Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_Position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	A	T	G	C	Cg	cG	tCw	wGa	tCa	tGa	tCt	aGa	tC	Ga	tCh	dGa	cC	Gg	wrC	Gyw	Cc	gG	wA	Tw	tC_mutation	tC_mutation_to_G	tC_mutation_to_T	APOBEC_mutation	APOBEC_mutation_to_G	APOBEC_mutation_to_T	"CONTEXT(+/-20)"	a_counts	t_counts	g_counts	c_counts	cg_counts	tcw_counts	wga_counts	tca_counts	tga_counts	tct_counts	aga_counts	tc_counts	ga_counts	tch_counts	dga_counts	cc_counts	gg_counts	wrc_counts	gyw_counts	cc_counts	gg_counts	wa_counts	tw_counts	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_CancerGermlineMut	i_CGC_CancerMolecularGenetics	i_CGC_CancerSomaticMut	i_CGC_CancerSyndrome	i_CGC_Chr	i_CGC_ChrBand	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_OtherGermlineMut	i_CGC_Other_Diseases	i_CGC_TissueType	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_AccessionNumbers	i_HGNC_CCDSIDs	i_HGNC_Chromosome	i_HGNC_DateModified	i_HGNC_DateNameChanged	i_HGNC_DateSymbolChanged	i_HGNC_EnsemblGeneID	i_HGNC_EnsemblIDsuppliedbyEnsembl	i_HGNC_EnzymeIDs	i_HGNC_Genefamilydescription	i_HGNC_HGNCID	i_HGNC_LocusGroup	i_HGNC_LocusType	i_HGNC_NameSynonyms	i_HGNC_OMIMIDsuppliedbyNCBI	i_HGNC_PreviousNames	i_HGNC_PreviousSymbols	i_HGNC_PrimaryIDs	i_HGNC_PubmedIDs	i_HGNC_RecordType	i_HGNC_RefSeqsuppliedbyNCBI	i_HGNC_SecondaryIDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSCIDsuppliedbyUCSC	i_HGNC_UniProtIDsuppliedbyUniProt	i_HGNC_VEGAIDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP_NR	i_dbNSFP_GERP_RS	i_dbNSFP_GERP_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_folddegenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos1coor	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample	newbase	end	tum_allele1	tum_allele2	start	effect_idx	newbase_idx	pat_idx	is_coding	is_flank	is_indel	is_ins	is_del	is_missense	is_nonsense	is_splice	is_silent	gene_idx	context_and_effect	context65	categ_idx	trackpos	categ	gene	chr	pos	type	classification	ref_allele	patient	DistBetween_Mutations	Distance_to_LT_end	Distance_to_RT_end	Strain_Mutation_ID	Dataset_Mutation_ID	Complex_ID	Complex_Size	StrainCluster_ID	Dataset_Cluster_ID	Distance_Between_Clusters	Cluster_Size_Mutations	Cluster_Size_Complexes	Cluster_Length	Cluster_Coordination	Content_of_non_coordinated_cluster	Cluster_Pvalue
TNFRSF8	943	broad.mit.edu	37	chr1	12170181	12170181	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctgtaagagggggcacccGcctcgcccaggaagctgctt	7	6	14	14	2	0	1	0	0	0	1	1	2	0	2	4	3	2	4	4	3	2	2			TCGA-2A-A8VL-01A-21D-A377-08	TCGA-2A-A8VL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47c9044-6b22-4de5-bb95-8f1114d63b96	58fd9726-f7b9-4e5a-8e51-73a8971a1317	g.chr1:12170181G>A	ENST00000263932.2	+	6	818	c.596G>A	c.(595-597)cGc>cAc	p.R199H	TNFRSF8_ENST00000417814.2_Missense_Mutation_p.R88H	NM_001243.3|NM_001281430.1	NP_001234.2|NP_001268359.1	P28908	TNR8_HUMAN	tumor necrosis factor receptor superfamily, member 8	199					cellular response to mechanical stimulus (GO:0071260)|negative regulation of cell proliferation (GO:0008285)|positive regulation of apoptotic process (GO:0043065)|positive regulation of TRAIL biosynthetic process (GO:0045556)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	27	Ovarian(185;0.249)	Lung NSC(185;8.71e-05)|all_lung(284;9.89e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649)	Brentuximab vedotin(DB08870)	GGGGGCACCCGCCTCGCCCAG	0.622																																						ENST00000263932.2																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	27						c.(595-597)cGc>cAc		tumor necrosis factor receptor superfamily, member 8							49	47	48					1																	12170181		2203	4300	6503	SO:0001583	missense	0				cellular response to mechanical stimulus|negative regulation of cell proliferation|positive regulation of apoptosis|positive regulation of TRAIL biosynthetic process|positive regulation of tumor necrosis factor biosynthetic process	cytoplasm|integral to membrane|plasma membrane		g.chr1:12170181G>A	M83554	CCDS144.1, CCDS59989.1	1p36	2008-02-05			ENSG00000120949	ENSG00000120949		"Tumor necrosis factor receptor superfamily", "CD molecules"	11923	protein-coding gene	gene with protein product		153243		CD30, D1S166E		1330892, 1310894	Standard	XM_006711049		Approved	KI-1	uc001atq.3	P28908	OTTHUMG00000001827	ENST00000263932.2:c.596G>A	1.37:g.12170181G>A	ENSP00000263932:p.Arg199His					TNFRSF8_ENST00000417814.2_Missense_Mutation_p.R88H	p.R199H	NM_001243.3	NP_001234.2	P28908	TNR8_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649)	6	818	+	Ovarian(185;0.249)	Lung NSC(185;8.71e-05)|all_lung(284;9.89e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)	199					B1AN79|B9EGD9|D3YTD8|Q6P4D9	Missense_Mutation	SNP	ENST00000263932.2	37	c.596G>A	CCDS144.1	.	.	.	.	.	.	.	.	.	.	.	8.840	0.942073	0.18281	.	.	ENSG00000120949	ENST00000263932;ENST00000417814	T;T	0.06768	3.26;3.26	3.76	-1.94	0.07571	.	26.210300	0.00166	N	0.000000	T	0.03011	0.0089	N	0.02011	-0.69	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.06405	0.002;0.001	T	0.34675	-0.9819	10	0.40728	T	0.16	-0.0783	0.3743	0.00384	0.3328:0.2836:0.1593:0.2244	.	88;199	D3YTD8;P28908	.;TNR8_HUMAN	H	199;88	ENSP00000263932:R199H;ENSP00000390650:R88H	ENSP00000263932:R199H	R	+	2	0	TNFRSF8	12092768	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.006000	0.03671	-0.358000	0.08162	-1.297000	0.01338	CGC		0.622	TNFRSF8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005130.1			16	25	0	0	0	1	0	16	25					A	12170181	G	A	12170181	3	1	1	1	0	0	0	0	1	0	0	0	16296	1087	38	1	618	1	TNFRSF8	1	12170181	Missense_Mutation	SNP	G	TCGA-2A-A8VL-01A-21D-A377-08		12170181	237080440	1	1											
MYOM3	127294	broad.mit.edu	37	chr1	24397629	24397629	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gcgagctgaagatctccttgTtgttgaagattagatgtagc	10	13	12	6	1	1	5	0	2	1	3	2	6	1	5	1	0	2	4	1	0	4	5			TCGA-2A-A8VL-01A-21D-A377-08	TCGA-2A-A8VL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47c9044-6b22-4de5-bb95-8f1114d63b96	58fd9726-f7b9-4e5a-8e51-73a8971a1317	g.chr1:24397629T>C	ENST00000374434.3	-	25	3290	c.3128A>G	c.(3127-3129)aAc>aGc	p.N1043S	MYOM3_ENST00000329601.7_Missense_Mutation_p.N1043S|RP11-293P20.4_ENST00000429191.1_RNA|RP11-293P20.2_ENST00000439239.2_RNA|MYOM3_ENST00000330966.7_Missense_Mutation_p.N1044S	NM_152372.3	NP_689585.3	Q5VTT5	MYOM3_HUMAN	myomesin 3	1043						M band (GO:0031430)	protein homodimerization activity (GO:0042803)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	68		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)		GATCTCCTTGTTGTTGAAGAT	0.567											OREG0013235	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000330966.7																			0				NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	68						c.(3130-3132)aAc>aGc		myomesin 3							72	71	71					1																	24397629		1923	4133	6056	SO:0001583	missense	127294							g.chr1:24397629T>C	AK093280	CCDS41281.1	1p36	2013-02-11	2012-10-17		ENSG00000142661	ENSG00000142661		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	26679	protein-coding gene	gene with protein product			"myomesin family, member 3"			18177667	Standard	NM_152372		Approved	FLJ35961	uc001bin.4	Q5VTT5	OTTHUMG00000002969	ENST00000374434.3:c.3128A>G	1.37:g.24397629T>C	ENSP00000363557:p.Asn1043Ser		OREG0013235	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	771	MYOM3_ENST00000374434.3_Missense_Mutation_p.N1043S|MYOM3_ENST00000329601.7_Missense_Mutation_p.N1043S|RP11-293P20.2_ENST00000439239.2_RNA|RP11-293P20.4_ENST00000429191.1_RNA	p.N1044S			Q5VTT5	MYOM3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)	25	3293	-		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)	1043					A6NF75|Q5VTT6|Q6AWC0|Q6AWC1|Q6NXF9|Q6ZRG7|Q7Z3G9|Q8NA11|Q96C54	Missense_Mutation	SNP	ENST00000374434.3	37	c.3131A>G	CCDS41281.1	.	.	.	.	.	.	.	.	.	.	T	15.86	2.957432	0.53400	.	.	ENSG00000142661	ENST00000374434;ENST00000330966;ENST00000329601	T;T;T	0.04706	3.57;3.57;3.57	5.54	4.41	0.53225	Immunoglobulin-like fold (1);	0.323500	0.36628	N	0.002492	T	0.06050	0.0157	L	0.40543	1.245	0.22851	N	0.998654	B;B	0.18166	0.026;0.011	B;B	0.28916	0.096;0.014	T	0.28004	-1.0057	10	0.62326	D	0.03	.	9.2857	0.37755	0.0:0.1484:0.0:0.8516	.	1043;1043	Q5VTT5-2;Q5VTT5	.;MYOM3_HUMAN	S	1043;1044;1043	ENSP00000363557:N1043S;ENSP00000332670:N1044S;ENSP00000328415:N1043S	ENSP00000328415:N1043S	N	-	2	0	MYOM3	24270216	0.986000	0.35501	0.966000	0.40874	0.909000	0.53808	4.369000	0.59511	0.930000	0.37217	0.379000	0.24179	AAC		0.567	MYOM3-001	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000008272.2	NM_152372		4	44	0	0	0	1	0	4	44					C	24397629	T	C	24397629	3	2	1	1	0	0	0	0	1	0	0	0	10093	1725	60	4	1237	4	MYOM3	1	24397629	Missense_Mutation	SNP	T	TCGA-2A-A8VL-01A-21D-A377-08	12227448	24397629	224852992	2	2											
GRIK3	2899	broad.mit.edu	37	chr1	37315953	37315953	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgatctgtttgtcagagagtCggtgacattagggcctcggc	7	12	14	8	2	2	3	1	2	1	1	4	4	2	3	1	3	0	1	1	3	1	2			TCGA-2A-A8VL-01A-21D-A377-08	TCGA-2A-A8VL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47c9044-6b22-4de5-bb95-8f1114d63b96	58fd9726-f7b9-4e5a-8e51-73a8971a1317	g.chr1:37315953C>T	ENST00000373091.3	-	9	1301	c.1285G>A	c.(1285-1287)Gac>Aac	p.D429N	GRIK3_ENST00000462621.1_5'UTR|GRIK3_ENST00000373093.4_Missense_Mutation_p.D429N	NM_000831.3	NP_000822.2	Q13003	GRIK3_HUMAN	glutamate receptor, ionotropic, kainate 3	429					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	axon (GO:0030424)|cell junction (GO:0030054)|dendrite (GO:0030425)|dendrite cytoplasm (GO:0032839)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	adenylate cyclase inhibiting G-protein coupled glutamate receptor activity (GO:0001640)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|ionotropic glutamate receptor activity (GO:0004970)|kainate selective glutamate receptor activity (GO:0015277)			breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	89		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)				GTCAGAGAGTCGGTGACATTA	0.587																																						ENST00000373091.3																			0				breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	89						c.(1285-1287)Gac>Aac		glutamate receptor, ionotropic, kainate 3	L-Glutamic Acid(DB00142)						148	127	134					1																	37315953		2203	4300	6503	SO:0001583	missense	2899				negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission	cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button	adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|G-protein-coupled receptor binding|kainate selective glutamate receptor activity	g.chr1:37315953C>T	U16127	CCDS416.1	1p34.3	2012-08-29			ENSG00000163873	ENSG00000163873		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4581	protein-coding gene	gene with protein product		138243				8128318	Standard	NM_000831		Approved	GluK3, GLUR7	uc001caz.2	Q13003	OTTHUMG00000004189	ENST00000373091.3:c.1285G>A	1.37:g.37315953C>T	ENSP00000362183:p.Asp429Asn					GRIK3_ENST00000373093.4_Missense_Mutation_p.D429N|GRIK3_ENST00000462621.1_5'UTR	p.D429N	NM_000831.3	NP_000822.2	Q13003	GRIK3_HUMAN			9	1301	-		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)	429					A9Z1Z8|B1AMS6|Q13004|Q16136	Missense_Mutation	SNP	ENST00000373091.3	37	c.1285G>A	CCDS416.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.953215	0.73902	.	.	ENSG00000163873	ENST00000373091;ENST00000373093	T;T	0.12255	2.76;2.7	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	T	0.20941	0.0504	M	0.74546	2.27	0.80722	D	1	B;B	0.31931	0.347;0.347	B;B	0.26517	0.07;0.07	T	0.01945	-1.1242	10	0.45353	T	0.12	.	19.5771	0.95449	0.0:1.0:0.0:0.0	.	429;429	A9Z1Z8;Q13003	.;GRIK3_HUMAN	N	429	ENSP00000362183:D429N;ENSP00000362185:D429N	ENSP00000362183:D429N	D	-	1	0	GRIK3	37088540	1.000000	0.71417	0.959000	0.39883	0.922000	0.55478	7.487000	0.81328	2.617000	0.88574	0.555000	0.69702	GAC		0.587	GRIK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012053.1	NM_000831		22	47	0	0	0	1	0	22	47					T	37315953	C	T	37315953	3	4	1	1	0	0	0	0	1	0	0	0	6775	884	31	2	1506	2	GRIK3	1	37315953	Missense_Mutation	SNP	C	TCGA-2A-A8VL-01A-21D-A377-08	12918324	37315953	211934668	3	3											
LPPR5	163404	broad.mit.edu	37	chr1	99380467	99380467	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctttgaaattattcaccaCgcacacaacctaaaatttca	15	11	2	13	1	2	1	2	1	0	0	2	1	2	1	3	0	1	1	3	0	5	5			TCGA-2A-A8VL-01A-21D-A377-08	TCGA-2A-A8VL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47c9044-6b22-4de5-bb95-8f1114d63b96	58fd9726-f7b9-4e5a-8e51-73a8971a1317	g.chr1:99380467C>T	ENST00000263177.4	-	5	1029	c.808G>A	c.(808-810)Gtg>Atg	p.V270M	LPPR5_ENST00000370188.3_Missense_Mutation_p.V270M	NM_001037317.1	NP_001032394.1	Q32ZL2	LPPR5_HUMAN		270						integral component of membrane (GO:0016021)	hydrolase activity (GO:0016787)										TTATTCACCACGCACACAACC	0.393																																						ENST00000370188.3																			0											c.(808-810)Gtg>Atg									158	152	154					1																	99380467		2203	4300	6503	SO:0001583	missense	0					integral to membrane	hydrolase activity	g.chr1:99380467C>T																												ENST00000263177.4:c.808G>A	1.37:g.99380467C>T	ENSP00000263177:p.Val270Met					LPPR5_ENST00000263177.4_Missense_Mutation_p.V270M	p.V270M	NM_001010861.2	NP_001010861.1	Q32ZL2	LPPR5_HUMAN			5	1168	-			270					A8MPX4|B7UCH3|Q32ZD0|Q3ZCU7	Missense_Mutation	SNP	ENST00000263177.4	37	c.808G>A	CCDS30778.1	.	.	.	.	.	.	.	.	.	.	C	25.8	4.672630	0.88348	.	.	ENSG00000117598	ENST00000370188;ENST00000263177	T;T	0.75477	-0.94;-0.94	5.98	5.98	0.97165	Phosphatidic acid phosphatase/chloroperoxidase, N-terminal (1);	0.063249	0.64402	D	0.000006	D	0.88355	0.6414	M	0.89840	3.065	0.58432	D	0.999994	D;D	0.89917	1.0;1.0	D;D	0.83275	0.993;0.996	D	0.89456	0.3733	10	0.87932	D	0	.	19.4463	0.94849	0.0:1.0:0.0:0.0	.	270;270	Q32ZL2-2;Q32ZL2	.;LPPR5_HUMAN	M	270	ENSP00000359207:V270M;ENSP00000263177:V270M	ENSP00000263177:V270M	V	-	1	0	AL161744.1	99153055	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	6.698000	0.74608	2.835000	0.97688	0.650000	0.86243	GTG		0.393	LPPR5-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000393221.1			19	98	0	0	0	1	0	19	98					T	99380467	C	T	99380467	3	4	1	1	0	0	0	0	1	0	0	0	8928	536	19	1	165	1	LPPR5	1	99380467	Missense_Mutation	SNP	C	TCGA-2A-A8VL-01A-21D-A377-08	62064514	99380467	149870154	4	4											
CD1C	911	broad.mit.edu	37	chr1	158262073	158262073	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatgaaggcgtcacagaaacAgtgtataatctcataagaag	17	9	9	6	1	2	3	2	1	1	2	3	3	2	3	0	1	1	1	0	1	7	4			TCGA-2A-A8VL-01A-21D-A377-08	TCGA-2A-A8VL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47c9044-6b22-4de5-bb95-8f1114d63b96	58fd9726-f7b9-4e5a-8e51-73a8971a1317	g.chr1:158262073A>T	ENST00000368170.3	+	3	807	c.528A>T	c.(526-528)acA>acT	p.T176T		NM_001765.2	NP_001756.2	P29017	CD1C_HUMAN	CD1c molecule	176					antigen processing and presentation (GO:0019882)|T cell activation involved in immune response (GO:0002286)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	endogenous lipid antigen binding (GO:0030883)|exogenous lipid antigen binding (GO:0030884)|glycolipid binding (GO:0051861)|lipopeptide binding (GO:0071723)			NS(1)|endometrium(3)|large_intestine(4)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	39	all_hematologic(112;0.0378)					TCACAGAAACAGTGTATAATC	0.478																																						ENST00000368170.3																			0				NS(1)|endometrium(3)|large_intestine(4)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	39						c.(526-528)acA>acT		CD1c molecule							291	291	291					1																	158262073		2203	4300	6503	SO:0001819	synonymous_variant	911				antigen processing and presentation|T cell activation involved in immune response	endosome membrane|integral to plasma membrane	endogenous lipid antigen binding|exogenous lipid antigen binding|glycolipid binding|lipopeptide binding	g.chr1:158262073A>T	M28827	CCDS1175.1	1q23.1	2014-01-14	2006-03-28		ENSG00000158481	ENSG00000158481		"CD molecules", "Immunoglobulin superfamily / C1-set domain containing"	1636	protein-coding gene	gene with protein product		188340	"CD1C antigen, c polypeptide", "CD1c antigen"	CD1		2447586	Standard	NM_001765		Approved		uc001fru.3	P29017	OTTHUMG00000017514	ENST00000368170.3:c.528A>T	1.37:g.158262073A>T							p.T176T	NM_001765.2	NP_001756.2	P29017	CD1C_HUMAN			3	807	+	all_hematologic(112;0.0378)		176					Q5TDJ7|Q6IAS4|Q9UMM0|Q9UN96	Silent	SNP	ENST00000368170.3	37	c.528A>T	CCDS1175.1	.	.	.	.	.	.	.	.	.	.	-	4.473	0.087725	0.08583	.	.	ENSG00000158481	ENST00000443761	.	.	.	3.36	-6.72	0.01755	.	.	.	.	.	T	0.09512	0.0234	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.26224	-1.0109	4	.	.	.	.	6.4656	0.21980	0.2122:0.4258:0.362:0.0	.	.	.	.	C	111	.	.	S	+	1	0	CD1C	156528697	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-4.793000	0.00185	-1.557000	0.01692	0.524000	0.50904	AGT		0.478	CD1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046351.2	NM_001765		7	281	0	0	0	1	0	7	281					T	158262073	A	T	158262073	2	4	1	1	0	0	0	0	0	0	0	1	2976	175	7	5		5	CD1C	1	158262073	Silent	SNP	A	TCGA-2A-A8VL-01A-21D-A377-08	58881606	158262073	90988548	5	5											
RYR2	6262	broad.mit.edu	37	chr1	237947732	237947732	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gctttcttctccattctgacGgtcaggtcggccctgtttgc	3	15	10	13	2	4	1	1	1	3	0	6	1	4	1	2	3	1	2	2	3	0	4			TCGA-2A-A8VL-01A-21D-A377-08	TCGA-2A-A8VL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47c9044-6b22-4de5-bb95-8f1114d63b96	58fd9726-f7b9-4e5a-8e51-73a8971a1317	g.chr1:237947732G>A	ENST00000366574.2	+	90	13037	c.12720G>A	c.(12718-12720)acG>acA	p.T4240T	RYR2_ENST00000542537.1_Silent_p.T4224T|RYR2_ENST00000609119.1_3'UTR|RYR2_ENST00000360064.6_Silent_p.T4246T	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4240					BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			CCATTCTGACGGTCAGGTCGG	0.507																																						ENST00000366574.2																			0				NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586						c.(12718-12720)acG>acA		ryanodine receptor 2 (cardiac)							56	62	60					1																	237947732		1971	4147	6118	SO:0001819	synonymous_variant	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237947732G>A	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"Ion channels / Ryanodine receptors", "EF-hand domain containing"	10484	protein-coding gene	gene with protein product		180902	"arrhythmogenic right ventricular dysplasia 2"	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.12720G>A	1.37:g.237947732G>A						RYR2_ENST00000542537.1_Silent_p.T4224T|RYR2_ENST00000360064.6_Silent_p.T4246T	p.T4240T	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		90	13037	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	4240					Q15411|Q546N8|Q5T3P2	Silent	SNP	ENST00000366574.2	37	c.12720G>A	CCDS55691.1																																																																																				0.507	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		7	25	0	0	0	1	0	7	25					A	237947732	G	A	237947732	2	1	1	1	0	0	0	0	0	0	0	1	13769	1103	39	2		2	RYR2	1	237947732	Silent	SNP	G	TCGA-2A-A8VL-01A-21D-A377-08	79685659	237947732	11302889	6	6											
LBH	81606	broad.mit.edu	37	chr2	30480447	30480447	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtccaggaggatgagcaagAtaactgcgaagagacagcga	15	4	15	7	2	0	3	0	1	0	2	1	8	1	5	1	3	4	1	1	3	3	1			TCGA-2A-A8VL-01A-21D-A377-08	TCGA-2A-A8VL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47c9044-6b22-4de5-bb95-8f1114d63b96	58fd9726-f7b9-4e5a-8e51-73a8971a1317	g.chr2:30480447A>G	ENST00000395323.3	+	3	486	c.278A>G	c.(277-279)gAt>gGt	p.D93G	LBH_ENST00000407930.2_Missense_Mutation_p.D76G|LBH_ENST00000401506.1_Missense_Mutation_p.D99G|LBH_ENST00000404397.1_Intron|LBH_ENST00000406087.1_3'UTR|LBH_ENST00000467242.1_3'UTR	NM_030915.3	NP_112177.2	Q53QV2	LBH_HUMAN	limb bud and heart development	93					multicellular organismal development (GO:0007275)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(2)|large_intestine(1)|lung(2)	5	Acute lymphoblastic leukemia(172;0.155)					GATGAGCAAGATAACTGCGAA	0.557																																						ENST00000395323.3																			0				endometrium(2)|large_intestine(1)|lung(2)	5						c.(277-279)gAt>gGt		limb bud and heart development							51	53	52					2																	30480447		2203	4300	6503	SO:0001583	missense	81606				multicellular organismal development|transcription, DNA-dependent	cytoplasm|nucleolus		g.chr2:30480447A>G	AF110224	CCDS33173.1	2p23.1	2012-12-07	2012-12-07		ENSG00000213626	ENSG00000213626			29532	protein-coding gene	gene with protein product		611763	"limb bud and heart development homolog (mouse)"			11230166, 11336496	Standard	NM_030915		Approved		uc002rne.2	Q53QV2	OTTHUMG00000152051	ENST00000395323.3:c.278A>G	2.37:g.30480447A>G	ENSP00000378733:p.Asp93Gly					LBH_ENST00000406087.1_3'UTR|LBH_ENST00000401506.1_Missense_Mutation_p.D99G|LBH_ENST00000407930.2_Missense_Mutation_p.D76G|LBH_ENST00000404397.1_Intron|LBH_ENST00000467242.1_3'UTR	p.D93G	NM_030915.3	NP_112177.2	Q53QV2	LBH_HUMAN			3	486	+	Acute lymphoblastic leukemia(172;0.155)		93					B2RBC2|Q9H0Q1	Missense_Mutation	SNP	ENST00000395323.3	37	c.278A>G	CCDS33173.1	.	.	.	.	.	.	.	.	.	.	A	13.98	2.398774	0.42512	.	.	ENSG00000213626	ENST00000395323;ENST00000401506;ENST00000407930	.	.	.	4.78	4.78	0.61160	.	0.273464	0.36591	N	0.002515	T	0.24005	0.0581	N	0.02011	-0.69	0.44711	D	0.997705	B	0.02656	0.0	B	0.06405	0.002	T	0.07770	-1.0755	9	0.33141	T	0.24	-17.3215	8.2693	0.31833	0.9112:0.0:0.0888:0.0	.	93	Q53QV2	LBH_HUMAN	G	93;99;76	.	ENSP00000378733:D93G	D	+	2	0	LBH	30333951	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	6.731000	0.74785	1.796000	0.52611	0.448000	0.29417	GAT		0.557	LBH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325091.1	NM_030915		13	25	0	0	0	1	0	13	25					G	30480447	A	G	30480447	3	3	1	1	0	0	0	0	1	0	0	0	8650	333	12	4	288	4	LBH	2	30480447	Missense_Mutation	SNP	A	TCGA-2A-A8VL-01A-21D-A377-08		30480447	212718926	7	7											
PRRT3	285368	broad.mit.edu	37	chr3	9990882	9990882	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaaggtcagcctgcttgggCgggggacctggggagctgac	6	6	20	9	1	1	1	1	1	0	0	1	4	1	4	2	7	3	2	2	7	1	1	rs370534364		TCGA-2A-A8VL-01A-21D-A377-08	TCGA-2A-A8VL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47c9044-6b22-4de5-bb95-8f1114d63b96	58fd9726-f7b9-4e5a-8e51-73a8971a1317	g.chr3:9990882C>T	ENST00000412055.1	-	2	1047	c.918G>A	c.(916-918)ccG>ccA	p.P306P	PRRT3-AS1_ENST00000431558.1_RNA|PRRT3_ENST00000411976.2_Silent_p.P306P	NM_207351.3	NP_997234.3	Q5FWE3	PRRT3_HUMAN	proline-rich transmembrane protein 3	306	Pro-rich.					integral component of membrane (GO:0016021)				NS(2)|breast(1)|endometrium(3)|large_intestine(3)|lung(1)|skin(1)|stomach(2)	13						CCTGCTTGGGCGGGGGACCTG	0.652													C|||	1	0.000199681	8e-04	0	5008	,	,		16496	0		0	False		,,,				2504	0					ENST00000412055.1																			0				NS(2)|breast(1)|endometrium(3)|large_intestine(3)|lung(1)|skin(1)|stomach(2)	13						c.(916-918)ccG>ccA		proline-rich transmembrane protein 3		C		0,3892		0,0,1946	63	71	68		918	-5.8	0	3		68	2,8294		0,2,4146	no	coding-synonymous	PRRT3	NM_207351.3		0,2,6092	TT,TC,CC		0.0241,0.0,0.0164		306/982	9990882	2,12186	1946	4148	6094	SO:0001819	synonymous_variant	285368					integral to membrane		g.chr3:9990882C>T	AK090993	CCDS43049.1	3p25.3	2011-10-10			ENSG00000163704	ENSG00000163704		"Proline-rich transmembrane proteins"	26591	protein-coding gene	gene with protein product							Standard	NM_207351		Approved	FLJ33674	uc003bul.2	Q5FWE3	OTTHUMG00000155285	ENST00000412055.1:c.918G>A	3.37:g.9990882C>T						PRRT3_ENST00000411976.2_Silent_p.P306P|PRRT3-AS1_ENST00000431558.1_RNA	p.P306P	NM_207351.3	NP_997234.3	Q5FWE3	PRRT3_HUMAN			2	1047	-			306			Pro-rich.		Q49AD0|Q6UXY6|Q8NBC9	Silent	SNP	ENST00000412055.1	37	c.918G>A	CCDS43049.1																																																																																				0.652	PRRT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339322.1	NM_207351		12	43	0	0	0	1	0	12	43					T	9990882	C	T	9990882	2	4	1	1	0	0	0	0	0	0	0	1	12611	755	27	1		1	PRRT3	3	9990882	Silent	SNP	C	TCGA-2A-A8VL-01A-21D-A377-08		9990882	188031548	8	8											
PRR23B	389151	broad.mit.edu	37	chr3	138739004	138739004	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agccggttggggagtccatcCggagctccgggaactcgggg	6	6	18	11	4	0	0	0	0	0	0	4	3	3	3	4	7	3	2	4	7	1	1	rs376706999		TCGA-2A-A8VL-01A-21D-A377-08	TCGA-2A-A8VL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47c9044-6b22-4de5-bb95-8f1114d63b96	58fd9726-f7b9-4e5a-8e51-73a8971a1317	g.chr3:138739004C>T	ENST00000329447.5	-	1	764	c.500G>A	c.(499-501)cGg>cAg	p.R167Q	MRPS22_ENST00000495075.1_Intron	NM_001013650.2	NP_001013672.1	Q6ZRT6	PR23B_HUMAN	proline rich 23B	167								p.R167Q(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GGAGTCCATCCGGAGCTCCGG	0.647																																						ENST00000329447.5																			1	Substitution - Missense(1)	p.R167Q(1)	lung(1)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(499-501)cGg>cAg		proline rich 23B		C	GLN/ARG	0,4402		0,0,2201	31	39	36		500	0.2	0	3		36	1,8597	1.2+/-3.3	0,1,4298	no	missense	PRR23B	NM_001013650.2	43	0,1,6499	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging	167/266	138739004	1,12999	2201	4299	6500	SO:0001583	missense	389151							g.chr3:138739004C>T	BC137146	CCDS33868.1	3q22.3	2014-06-03			ENSG00000184814	ENSG00000184814			33764	protein-coding gene	gene with protein product							Standard	NM_001013650		Approved	FLJ46116	uc003esy.1	Q6ZRT6	OTTHUMG00000160633	ENST00000329447.5:c.500G>A	3.37:g.138739004C>T	ENSP00000328768:p.Arg167Gln					MRPS22_ENST00000495075.1_Intron	p.R167Q	NM_001013650.2	NP_001013672.1	Q6ZRT6	PR23B_HUMAN			1	764	-			167					B2RNV9	Missense_Mutation	SNP	ENST00000329447.5	37	c.500G>A	CCDS33868.1	.	.	.	.	.	.	.	.	.	.	C	8.796	0.931691	0.18131	0.0	1.16E-4	ENSG00000184814	ENST00000329447	.	.	.	3.14	0.243	0.15503	.	1.288490	0.05675	N	0.589327	T	0.24044	0.0582	L	0.44542	1.39	0.09310	N	1	P	0.43973	0.823	B	0.33196	0.159	T	0.20874	-1.0262	9	0.23302	T	0.38	.	5.4872	0.16757	0.0:0.6056:0.0:0.3944	.	167	Q6ZRT6	PR23B_HUMAN	Q	167	.	ENSP00000328768:R167Q	R	-	2	0	PRR23B	140221694	0.000000	0.05858	0.000000	0.03702	0.031000	0.12232	-0.107000	0.10873	0.036000	0.15547	0.456000	0.33151	CGG		0.647	PRR23B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361501.1	NM_001013650		5	29	0	0	0	1	0	5	29					T	138739004	C	T	138739004	3	4	1	1	0	0	0	0	1	0	0	0	12595	652	23	2	301	2	PRR23B	3	138739004	Missense_Mutation	SNP	C	TCGA-2A-A8VL-01A-21D-A377-08	128748122	138739004	59283426	9	9											
JAKMIP1	152789	broad.mit.edu	37	chr4	6087153	6087153	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgctgcccctcacctggacGcccatgagctccaccatgtc	6	8	8	19	1	1	1	1	1	0	0	3	2	2	2	6	1	3	2	6	1	0	0	rs145998748	byFrequency	TCGA-2A-A8VL-01A-21D-A377-08	TCGA-2A-A8VL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47c9044-6b22-4de5-bb95-8f1114d63b96	58fd9726-f7b9-4e5a-8e51-73a8971a1317	g.chr4:6087153G>A	ENST00000282924.5	-	4	1313	c.828C>T	c.(826-828)ggC>ggT	p.G276G	JAKMIP1_ENST00000409021.3_Silent_p.G276G|JAKMIP1_ENST00000409371.3_Silent_p.G111G|JAKMIP1_ENST00000457227.2_5'UTR|JAKMIP1_ENST00000409831.1_Silent_p.G276G|JAKMIP1_ENST00000410077.2_Silent_p.G111G	NM_144720.3	NP_653321.1	Q96N16	JKIP1_HUMAN	janus kinase and microtubule interacting protein 1	276	Mediates association with microtubules.				cognition (GO:0050890)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|extrinsic component of membrane (GO:0019898)|microtubule (GO:0005874)|ribonucleoprotein complex (GO:0030529)	GABA receptor binding (GO:0050811)|RNA binding (GO:0003723)			NS(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						TCACCTGGACGCCCATGAGCT	0.617													G|||	2	0.000399361	0.0015	0	5008	,	,		17556	0		0	False		,,,				2504	0					ENST00000409021.3																			0				NS(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						c.(826-828)ggC>ggT		janus kinase and microtubule interacting protein 1		G	,	4,4402	8.1+/-20.4	0,4,2199	31	32	32		828,828	-2.7	0	4	dbSNP_134	32	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	JAKMIP1	NM_001099433.1,NM_144720.3	,	0,4,6499	AA,AG,GG		0.0,0.0908,0.0308	,	276/832,276/627	6087153	4,13002	2203	4300	6503	SO:0001819	synonymous_variant	152789				protein transport	cytoplasm|membrane|microtubule|peripheral to membrane of membrane fraction|ribonucleoprotein complex	GABA receptor binding|RNA binding	g.chr4:6087153G>A	AK056126	CCDS3385.1, CCDS47005.1	4p16.1	2013-10-11	2009-08-13		ENSG00000152969	ENSG00000152969			26460	protein-coding gene	gene with protein product		611195				18941173	Standard	NM_144720		Approved	MARLIN1, JAMIP1, Gababrbp, FLJ31564	uc010idb.1	Q96N16	OTTHUMG00000125491	ENST00000282924.5:c.828C>T	4.37:g.6087153G>A						JAKMIP1_ENST00000457227.2_5'UTR|JAKMIP1_ENST00000282924.5_Silent_p.G276G|JAKMIP1_ENST00000410077.2_Silent_p.G111G|JAKMIP1_ENST00000409831.1_Silent_p.G276G|JAKMIP1_ENST00000409371.3_Silent_p.G111G	p.G276G	NM_001099433.1	NP_001092903.1	Q96N16	JKIP1_HUMAN			4	1277	-			276			Mediates association with microtubules.		A6H2J2|A6H2J3|A6H2J4|A6H2J5|A8MTK6|B4DHZ8|B8ZZR7|D3DVT0|Q86Y69|Q8N7G3	Silent	SNP	ENST00000282924.5	37	c.828C>T	CCDS3385.1																																																																																				0.617	JAKMIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246816.2	NM_144720		8	26	0	0	0	1	0	8	26					A	6087153	G	A	6087153	2	1	1	1	0	0	0	0	0	0	0	1	7940	1074	38	1		1	JAKMIP1	4	6087153	Silent	SNP	G	TCGA-2A-A8VL-01A-21D-A377-08		6087153	185067123	10	10											
C6	729	broad.mit.edu	37	chr5	41160290	41160290	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcacagttctcaccataggtGccactctgacacacacacag	12	8	6	15	0	3	1	2	1	2	0	4	1	3	1	2	1	1	1	2	1	1	2	rs202107773		TCGA-2A-A8VL-01A-21D-A377-08	TCGA-2A-A8VL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47c9044-6b22-4de5-bb95-8f1114d63b96	58fd9726-f7b9-4e5a-8e51-73a8971a1317	g.chr5:41160290G>T	ENST00000263413.3	-	11	1902	c.1638C>A	c.(1636-1638)ggC>ggA	p.G546G	C6_ENST00000337836.5_Silent_p.G546G|C6_ENST00000475349.1_5'Flank	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	546	EGF-like.				complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane attack complex (GO:0005579)				central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				CACCATAGGTGCCACTCTGAC	0.463																																						ENST00000263413.3																			0				central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96						c.(1636-1638)ggC>ggA		complement component 6							155	148	150					5																	41160290		2203	4300	6503	SO:0001819	synonymous_variant	729				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding	g.chr5:41160290G>T	J05024	CCDS3936.1	5p13.1	2014-09-17			ENSG00000039537	ENSG00000039537		"Complement system"	1339	protein-coding gene	gene with protein product		217050					Standard	NM_001115131		Approved		uc003jmk.3	P13671	OTTHUMG00000094781	ENST00000263413.3:c.1638C>A	5.37:g.41160290G>T						C6_ENST00000337836.5_Silent_p.G546G	p.G546G	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN			11	1902	-		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)	546			EGF-like.			Silent	SNP	ENST00000263413.3	37	c.1638C>A	CCDS3936.1																																																																																				0.463	C6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211592.1			19	59	1	0	7.87624e-14	1	8.37898e-14	19	59					T	41160290	G	T	41160290	2	4	1	1	0	0	0	0	0	0	0	1	2315	1306	46	5		5	C6	5	41160290	Silent	SNP	G	TCGA-2A-A8VL-01A-21D-A377-08		41160290	139754970	11	11											
FRS3	10817	broad.mit.edu	37	chr6	41738928	41738928	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccagcccggctcctctgggCtcagtctccagccagcccct	4	8	9	20	1	3	0	1	0	2	0	6	0	5	0	7	2	3	2	7	2	0	0	rs143790685		TCGA-2A-A8VL-01A-21D-A377-08	TCGA-2A-A8VL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47c9044-6b22-4de5-bb95-8f1114d63b96	58fd9726-f7b9-4e5a-8e51-73a8971a1317	g.chr6:41738928C>T	ENST00000373018.3	-	7	1159	c.908G>A	c.(907-909)aGc>aAc	p.S303N	FRS3_ENST00000259748.2_Missense_Mutation_p.S303N	NM_006653.3	NP_006644.1	O43559	FRS3_HUMAN	fibroblast growth factor receptor substrate 3	303					fibroblast growth factor receptor signaling pathway (GO:0008543)|signal transduction (GO:0007165)	plasma membrane (GO:0005886)	fibroblast growth factor receptor binding (GO:0005104)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	Ovarian(28;0.0355)|Colorectal(47;0.121)		Epithelial(12;8.38e-05)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			CTCCTCTGGGCTCAGTCTCCA	0.652																																						ENST00000373018.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						c.(907-909)aGc>aAc		fibroblast growth factor receptor substrate 3							35	37	37					6																	41738928		2203	4300	6503	SO:0001583	missense	10817				fibroblast growth factor receptor signaling pathway	plasma membrane	fibroblast growth factor receptor binding|insulin receptor binding	g.chr6:41738928C>T	AF036718	CCDS4860.1	6p21.1	2010-08-05			ENSG00000137218	ENSG00000137218			16970	protein-coding gene	gene with protein product		607744				8761293, 9660748	Standard	NM_006653		Approved	SNT-2, FRS2beta, FRS2B	uc003orc.1	O43559	OTTHUMG00000014686	ENST00000373018.3:c.908G>A	6.37:g.41738928C>T	ENSP00000362109:p.Ser303Asn					FRS3_ENST00000259748.2_Missense_Mutation_p.S303N	p.S303N	NM_006653.3	NP_006644.1	O43559	FRS3_HUMAN	Epithelial(12;8.38e-05)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)		7	1159	-	Ovarian(28;0.0355)|Colorectal(47;0.121)		303					Q5T3D5	Missense_Mutation	SNP	ENST00000373018.3	37	c.908G>A	CCDS4860.1	.	.	.	.	.	.	.	.	.	.	C	17.90	3.502273	0.64298	.	.	ENSG00000137218	ENST00000373018;ENST00000259748	T;T	0.25912	1.77;1.77	5.49	4.63	0.57726	.	0.505906	0.25813	N	0.028126	T	0.22322	0.0538	M	0.61703	1.905	0.37196	D	0.904138	D	0.60575	0.988	P	0.53313	0.723	T	0.04825	-1.0924	10	0.30078	T	0.28	-28.6689	9.828	0.40923	0.0:0.7829:0.1399:0.0772	.	303	O43559	FRS3_HUMAN	N	303	ENSP00000362109:S303N;ENSP00000259748:S303N	ENSP00000259748:S303N	S	-	2	0	FRS3	41846906	0.998000	0.40836	1.000000	0.80357	0.992000	0.81027	1.118000	0.31246	1.333000	0.45449	-0.122000	0.15005	AGC		0.652	FRS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040532.2	NM_006653		8	23	0	0	0	1	0	8	23					T	41738928	C	T	41738928	3	4	1	1	0	0	0	0	1	0	0	0	6062	797	28	3	574	3	FRS3	6	41738928	Missense_Mutation	SNP	C	TCGA-2A-A8VL-01A-21D-A377-08		41738928	129376139	12	12											
BAI3	577	broad.mit.edu	37	chr6	69703688	69703688	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcaccttgctaaggggcagcGaatgctggcaggtgatggaa	10	7	16	8	1	0	1	0	1	0	0	0	3	0	2	1	5	3	5	1	5	3	2	rs369405391		TCGA-2A-A8VL-01A-21D-A377-08	TCGA-2A-A8VL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47c9044-6b22-4de5-bb95-8f1114d63b96	58fd9726-f7b9-4e5a-8e51-73a8971a1317	g.chr6:69703688G>A	ENST00000370598.1	+	11	2584	c.1763G>A	c.(1762-1764)cGa>cAa	p.R588Q		NM_001704.2	NP_001695	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	588					G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.R588P(1)|p.R588Q(1)		NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				AAGGGGCAGCGAATGCTGGCA	0.418													G|||	1	0.000199681	0	0	5008	,	,		19359	0		0	False		,,,				2504	0.001					ENST00000370598.1																			2	Substitution - Missense(2)	p.R588P(1)|p.R588Q(1)	lung(1)|skin(1)	NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210						c.(1762-1764)cGa>cAa		brain-specific angiogenesis inhibitor 3		G	GLN/ARG	0,4406		0,0,2203	212	227	222		1763	5.8	0.7	6		222	1,8599	1.2+/-3.3	0,1,4299	no	missense	BAI3	NM_001704.2	43	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	588/1523	69703688	1,13005	2203	4300	6503	SO:0001583	missense	577				negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr6:69703688G>A	AB005299	CCDS4968.1	6q12	2014-08-08			ENSG00000135298	ENSG00000135298		"-", "GPCR / Class B : Orphans"	945	protein-coding gene	gene with protein product		602684				9533023	Standard	NM_001704		Approved	KIAA0550	uc003pev.4	O60242	OTTHUMG00000014982	ENST00000370598.1:c.1763G>A	6.37:g.69703688G>A	ENSP00000359630:p.Arg588Gln						p.R588Q	NM_001704.2	NP_001695.1	O60242	BAI3_HUMAN			11	2584	+		all_lung(197;0.212)	588					B7Z1K0|O60297|Q2NKN6|Q5VY37|Q9BX54	Missense_Mutation	SNP	ENST00000370598.1	37	c.1763G>A	CCDS4968.1	.	.	.	.	.	.	.	.	.	.	G	36	5.722926	0.96847	0.0	1.16E-4	ENSG00000135298	ENST00000370598	T	0.11821	2.74	5.85	5.85	0.93711	Domain of unknown function DUF3497 (1);	0.072165	0.52532	D	0.000077	T	0.28665	0.0710	L	0.54323	1.7	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.00829	-1.1549	10	0.66056	D	0.02	.	20.1606	0.98132	0.0:0.0:1.0:0.0	.	588	O60242	BAI3_HUMAN	Q	588	ENSP00000359630:R588Q	ENSP00000359630:R588Q	R	+	2	0	BAI3	69760409	1.000000	0.71417	0.739000	0.30968	0.993000	0.82548	9.837000	0.99465	2.772000	0.95346	0.650000	0.86243	CGA		0.418	BAI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041120.1			33	171	0	0	0	1	0	33	171					A	69703688	G	A	69703688	3	1	1	1	0	0	0	0	1	0	0	0	1300	1058	37	2	1797	2	BAI3	6	69703688	Missense_Mutation	SNP	G	TCGA-2A-A8VL-01A-21D-A377-08	27964760	69703688	101411379	13	13											
MYB	4602	broad.mit.edu	37	chr6	135515025	135515025	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gttacatgtaaatatagtcaAtgtccctcagccagctgccg	11	11	8	11	1	2	0	2	0	0	0	3	0	3	0	3	0	4	3	3	0	6	4			TCGA-2A-A8VL-01A-21D-A377-08	TCGA-2A-A8VL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47c9044-6b22-4de5-bb95-8f1114d63b96	58fd9726-f7b9-4e5a-8e51-73a8971a1317	g.chr6:135515025A>T	ENST00000367814.4	+	7	998	c.812A>T	c.(811-813)aAt>aTt	p.N271I	MYB-AS1_ENST00000455534.1_RNA|MYB_ENST00000531845.1_3'UTR|MYB_ENST00000527615.1_Missense_Mutation_p.N271I|MYB_ENST00000528774.1_Missense_Mutation_p.N271I|MYB_ENST00000341911.5_Missense_Mutation_p.N271I|MYB_ENST00000533624.1_Missense_Mutation_p.N271I|MYB_ENST00000525369.1_Missense_Mutation_p.N271I|MYB_ENST00000534044.1_Missense_Mutation_p.N271I|MYB_ENST00000420123.2_Missense_Mutation_p.N247I|MYB_ENST00000534121.1_Missense_Mutation_p.N271I|MYB_ENST00000316528.8_Missense_Mutation_p.N271I|MYB_ENST00000442647.2_Missense_Mutation_p.N271I	NM_001161659.1|NM_005375.2	NP_001155131.1|NP_005366.2	P10242	MYB_HUMAN	v-myb avian myeloblastosis viral oncogene homolog	271					B cell differentiation (GO:0030183)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|chromatin remodeling (GO:0006338)|embryonic digestive tract development (GO:0048566)|G1/S transition of mitotic cell cycle (GO:0000082)|homeostasis of number of cells (GO:0048872)|in utero embryonic development (GO:0001701)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of histone H3-K9 methylation (GO:0051574)|positive regulation of T-helper cell differentiation (GO:0045624)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|thymus development (GO:0048538)	nuclear matrix (GO:0016363)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			breast(4)|endometrium(1)|kidney(2)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	28	all_epithelial(2;0.109)|Breast(56;0.158)|Colorectal(23;0.221)	Lung NSC(302;3.08e-05)|Ovarian(999;0.208)		OV - Ovarian serous cystadenocarcinoma(155;0.0079)|GBM - Glioblastoma multiforme(68;0.0117)		AATATAGTCAATGTCCCTCAG	0.413			T	NFIB	adenoid cystic carcinoma																																	ENST00000341911.5				Dom	yes		6	6q22-23	4602	T	v-myb myeloblastosis viral oncogene homolog			E	NFIB		adenoid cystic carcinoma		0				breast(4)|endometrium(1)|kidney(2)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	28						c.(811-813)aAt>aTt		v-myb avian myeloblastosis viral oncogene homolog							178	160	166					6																	135515025		2203	4300	6503	SO:0001583	missense	4602				blood coagulation|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of histone H3-K4 methylation|positive regulation of histone H3-K9 methylation|positive regulation of T-helper cell differentiation|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear matrix	DNA binding|protein binding	g.chr6:135515025A>T		CCDS5174.1, CCDS47481.1, CCDS47482.1, CCDS55058.1, CCDS55059.1, CCDS55060.1, CCDS55061.1, CCDS55062.1	6q22-q23	2013-07-09	2013-07-09		ENSG00000118513	ENSG00000118513			7545	protein-coding gene	gene with protein product		189990				17599807	Standard	NM_001130172		Approved	c-myb	uc003qfh.3	P10242	OTTHUMG00000015629	ENST00000367814.4:c.812A>T	6.37:g.135515025A>T	ENSP00000356788:p.Asn271Ile					MYB_ENST00000442647.2_Missense_Mutation_p.N271I|MYB_ENST00000420123.2_Missense_Mutation_p.N247I|MYB_ENST00000531845.1_3'UTR|MYB_ENST00000316528.8_Missense_Mutation_p.N271I|MYB_ENST00000367814.4_Missense_Mutation_p.N271I|MYB_ENST00000528774.1_Missense_Mutation_p.N271I|MYB_ENST00000534121.1_Missense_Mutation_p.N271I|MYB_ENST00000534044.1_Missense_Mutation_p.N271I|MYB_ENST00000527615.1_Missense_Mutation_p.N271I|MYB_ENST00000525369.1_Missense_Mutation_p.N271I|MYB_ENST00000533624.1_Missense_Mutation_p.N271I	p.N271I	NM_001130173.1|NM_001161656.1|NM_001161658.1	NP_001123645.1|NP_001155128.1|NP_001155130.1	P10242	MYB_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.0079)|GBM - Glioblastoma multiforme(68;0.0117)	7	1011	+	all_epithelial(2;0.109)|Breast(56;0.158)|Colorectal(23;0.221)	Lung NSC(302;3.08e-05)|Ovarian(999;0.208)	271					E9PI07|E9PLZ5|E9PNA4|E9PNL6|E9PRS2|P78391|P78392|P78525|P78526|Q14023|Q14024|Q708E4|Q708E7|Q9UE83	Missense_Mutation	SNP	ENST00000367814.4	37	c.812A>T	CCDS5174.1	.	.	.	.	.	.	.	.	.	.	A	23.6	4.431501	0.83776	.	.	ENSG00000118513	ENST00000341911;ENST00000442647;ENST00000316528;ENST00000237302;ENST00000367814;ENST00000527615;ENST00000420123;ENST00000525369;ENST00000528774;ENST00000534121;ENST00000534044;ENST00000533624;ENST00000430686	T;T;T;T;T;T;T;T;T;T	0.32515	2.69;2.21;2.2;2.21;1.45;1.9;2.69;2.68;1.87;2.22	5.23	5.23	0.72850	Transcription regulator Wos2-domain (1);	0.000000	0.85682	D	0.000000	T	0.35566	0.0936	L	0.38175	1.15	0.80722	D	1	D;D;D;D;D;D;D;D;P;D	0.89917	0.998;1.0;1.0;1.0;1.0;0.992;0.975;1.0;0.716;1.0	D;D;D;D;D;D;P;D;B;D	0.97110	0.993;0.999;0.999;0.998;1.0;0.972;0.843;0.999;0.289;0.999	T	0.16247	-1.0409	10	0.48119	T	0.1	-15.1899	15.1257	0.72481	1.0:0.0:0.0:0.0	.	271;271;247;271;271;271;271;271;271;271	E9PI07;E9PLZ5;E9PMQ0;P10242-2;E9PNL6;E9PRS2;E9PNA4;P10242-4;P10242;Q708E1	.;.;.;.;.;.;.;.;MYB_HUMAN;.	I	271;271;271;271;271;271;247;271;271;271;271;271;225	ENSP00000339992:N271I;ENSP00000410825:N271I;ENSP00000326328:N271I;ENSP00000356788:N271I;ENSP00000433227:N271I;ENSP00000435938:N271I;ENSP00000434723:N271I;ENSP00000432851:N271I;ENSP00000435055:N271I;ENSP00000436605:N271I	ENSP00000237302:N271I	N	+	2	0	MYB	135556718	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.406000	0.80017	1.973000	0.57446	0.528000	0.53228	AAT		0.413	MYB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000042347.4			24	61	0	0	0	1	0	24	61					T	135515025	A	T	135515025	3	4	1	1	0	0	0	0	1	0	0	0	10007	101	4	5	838	5	MYB	6	135515025	Missense_Mutation	SNP	A	TCGA-2A-A8VL-01A-21D-A377-08	65811337	135515025	35600042	14	14											
CNTNAP2	26047	broad.mit.edu	37	chr7	146829588	146829588	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cagaccaagatgagccaaatCgatatttcctcaggtcagtg	13	9	9	10	1	2	3	2	1	0	2	4	4	3	3	3	1	1	0	3	1	3	2			TCGA-2A-A8VL-01A-21D-A377-08	TCGA-2A-A8VL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47c9044-6b22-4de5-bb95-8f1114d63b96	58fd9726-f7b9-4e5a-8e51-73a8971a1317	g.chr7:146829588C>T	ENST00000361727.3	+	8	1851	c.1335C>T	c.(1333-1335)atC>atT	p.I445I		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	445	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				adult behavior (GO:0030534)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cellular protein localization (GO:0034613)|cerebral cortex development (GO:0021987)|clustering of voltage-gated potassium channels (GO:0045163)|learning (GO:0007612)|limbic system development (GO:0021761)|neuron projection development (GO:0031175)|neuron recognition (GO:0008038)|protein localization to juxtaparanode region of axon (GO:0071205)|social behavior (GO:0035176)|striatum development (GO:0021756)|superior temporal gyrus development (GO:0071109)|thalamus development (GO:0021794)|transmission of nerve impulse (GO:0019226)|vocalization behavior (GO:0071625)	axolemma (GO:0030673)|axon (GO:0030424)|cell surface (GO:0009986)|dendrite (GO:0030425)|early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|juxtaparanode region of axon (GO:0044224)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|voltage-gated potassium channel complex (GO:0008076)	enzyme binding (GO:0019899)			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			TGAGCCAAATCGATATTTCCT	0.403										HNSCC(39;0.1)																												ENST00000361727.3																			0				NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188						c.(1333-1335)atC>atT		contactin associated protein-like 2							110	93	99					7																	146829588		2203	4300	6503	SO:0001819	synonymous_variant	26047				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding	g.chr7:146829588C>T	AF193613	CCDS5889.1	7q35	2008-02-04			ENSG00000174469	ENSG00000174469			13830	protein-coding gene	gene with protein product		604569				10624965, 10048485	Standard	NM_014141		Approved	Caspr2, KIAA0868, NRXN4	uc003weu.2	Q9UHC6	OTTHUMG00000152743	ENST00000361727.3:c.1335C>T	7.37:g.146829588C>T		HNSCC(39;0.1)					p.I445I	NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0319)		8	1851	+	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	445			Laminin G-like 2.		D3DWG2|Q14DG2|Q52LV1|Q5H9Q7|Q9UQ12	Silent	SNP	ENST00000361727.3	37	c.1335C>T	CCDS5889.1																																																																																				0.403	CNTNAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327668.1			13	44	0	0	0	1	0	13	44					T	146829588	C	T	146829588	2	4	1	1	0	0	0	0	0	0	0	1	3647	874	31	2		2	CNTNAP2	7	146829588	Silent	SNP	C	TCGA-2A-A8VL-01A-21D-A377-08		146829588	12309075	15	15											
NRG1	3084	broad.mit.edu	37	chr8	32621514	32621514	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccttccaccacaaccccgCgcatgacagtaacagcctcc	10	6	5	20	2	0	1	0	1	0	0	3	1	3	1	7	0	3	2	7	0	2	2	rs572301736		TCGA-2A-A8VL-01A-21D-A377-08	TCGA-2A-A8VL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47c9044-6b22-4de5-bb95-8f1114d63b96	58fd9726-f7b9-4e5a-8e51-73a8971a1317	g.chr8:32621514C>T	ENST00000405005.3	+	12	1517	c.1517C>T	c.(1516-1518)gCg>gTg	p.A506V	NRG1_ENST00000287842.3_Missense_Mutation_p.A503V|NRG1_ENST00000287845.5_Missense_Mutation_p.A477V|NRG1_ENST00000521670.1_3'UTR|NRG1_ENST00000519301.1_Missense_Mutation_p.A456V|NRG1_ENST00000539990.1_Missense_Mutation_p.A349V|NRG1_ENST00000356819.4_Missense_Mutation_p.A511V|NRG1_ENST00000341377.5_3'UTR|NRG1_ENST00000338921.4_Missense_Mutation_p.A514V|RP11-1002K11.1_ENST00000607314.1_lincRNA			Q02297	NRG1_HUMAN	neuregulin 1	506					activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|cardiac conduction system development (GO:0003161)|cardiac muscle cell differentiation (GO:0055007)|cardiac muscle cell myoblast differentiation (GO:0060379)|cell communication (GO:0007154)|cell migration (GO:0016477)|cell morphogenesis (GO:0000902)|cell proliferation (GO:0008283)|cellular protein complex disassembly (GO:0043624)|embryo development (GO:0009790)|endocardial cell differentiation (GO:0060956)|epidermal growth factor receptor signaling pathway (GO:0007173)|ERBB signaling pathway (GO:0038127)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glial cell fate commitment (GO:0021781)|innate immune response (GO:0045087)|locomotory behavior (GO:0007626)|mammary gland development (GO:0030879)|MAPK cascade (GO:0000165)|negative regulation of cardiac muscle cell apoptotic process (GO:0010667)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of secretion (GO:0051048)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|neural crest cell development (GO:0014032)|neuron fate commitment (GO:0048663)|neurotransmitter receptor metabolic process (GO:0045213)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peripheral nervous system development (GO:0007422)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell growth (GO:0030307)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of Ras protein signal transduction (GO:0046579)|positive regulation of striated muscle cell differentiation (GO:0051155)|regulation of protein heterodimerization activity (GO:0043497)|regulation of protein homodimerization activity (GO:0043496)|synapse assembly (GO:0007416)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|ventricular cardiac muscle cell differentiation (GO:0055012)|ventricular trabecula myocardium morphogenesis (GO:0003222)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|axon (GO:0030424)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)	cytokine activity (GO:0005125)|ErbB-3 class receptor binding (GO:0043125)|growth factor activity (GO:0008083)|protein tyrosine kinase activator activity (GO:0030296)|receptor binding (GO:0005102)|receptor tyrosine kinase binding (GO:0030971)|transcription cofactor activity (GO:0003712)|transmembrane receptor protein tyrosine kinase activator activity (GO:0030297)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(1)|skin(1)	39		Breast(100;0.203)		KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943)		CACAACCCCGCGCATGACAGT	0.547													C|||	1	0.000199681	8e-04	0	5008	,	,		17974	0		0	False		,,,				2504	0					ENST00000338921.4																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(1)|skin(1)	39						c.(1540-1542)gCg>gTg		neuregulin 1							104	82	89					8																	32621514		2203	4300	6503	SO:0001583	missense	3084				activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|cardiac muscle cell differentiation|cell communication|cell proliferation|cellular protein complex disassembly|embryo development|mammary gland development|negative regulation of cardiac muscle cell apoptosis|negative regulation of secretion|negative regulation of transcription, DNA-dependent|nervous system development|neural crest cell development|Notch signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of striated muscle cell differentiation|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|transmembrane receptor protein tyrosine kinase signaling pathway|ventricular cardiac muscle cell differentiation|wound healing	apical plasma membrane|extracellular region|extracellular space|integral to membrane|nucleus|plasma membrane	cytokine activity|ErbB-3 class receptor binding|growth factor activity|protein binding|protein tyrosine kinase activator activity|receptor tyrosine kinase binding|transcription cofactor activity|transmembrane receptor protein tyrosine kinase activator activity	g.chr8:32621514C>T	L12261	CCDS6084.1, CCDS6085.1, CCDS6086.1, CCDS6087.1, CCDS47836.1, CCDS55218.1, CCDS55219.1, CCDS75727.1	8p21-p12	2014-06-23			ENSG00000157168	ENSG00000157168		"Immunoglobulin superfamily / I-set domain containing"	7997	protein-coding gene	gene with protein product		142445	"NRG1 intronic transcript 2 (non-protein coding)"	HGL, NRG1-IT2		1350381, 8095334	Standard	NM_013962		Approved	HRG, NDF, GGF	uc003xiu.2	Q02297	OTTHUMG00000163918	ENST00000405005.3:c.1517C>T	8.37:g.32621514C>T	ENSP00000384620:p.Ala506Val					NRG1_ENST00000519301.1_Missense_Mutation_p.A456V|NRG1_ENST00000539990.1_Missense_Mutation_p.A349V|NRG1_ENST00000287845.5_Missense_Mutation_p.A477V|NRG1_ENST00000521670.1_3'UTR|NRG1_ENST00000287842.3_Missense_Mutation_p.A503V|NRG1_ENST00000341377.5_3'UTR|NRG1_ENST00000356819.4_Missense_Mutation_p.A511V|NRG1_ENST00000405005.2_Missense_Mutation_p.A506V|NRG1_ENST00000287840.5_Missense_Mutation_p.A506V	p.A514V			Q02297	NRG1_HUMAN		KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943)	13	2058	+		Breast(100;0.203)	506					A5YAK4|A5YAK5|A8K1L2|B7Z4Z3|E9PHH4|O14667|P98202|Q02298|Q02299|Q07110|Q07111|Q12779|Q12780|Q12781|Q12782|Q12783|Q12784|Q15491|Q7RTV9|Q7RTW0|Q7RTW1|Q7RTW2|Q8NFN1|Q8NFN2|Q8NFN3|Q9UPE3	Missense_Mutation	SNP	ENST00000405005.3	37	c.1541C>T	CCDS6085.1	.	.	.	.	.	.	.	.	.	.	C	2.229	-0.376655	0.05000	.	.	ENSG00000157168	ENST00000518104;ENST00000519301;ENST00000523534;ENST00000338921;ENST00000356819;ENST00000287840;ENST00000287845;ENST00000287842;ENST00000405005;ENST00000539990	T;T;T;T;T;T;T;T;T;T	0.58797	0.31;0.31;0.31;0.31;0.31;0.31;0.31;0.31;0.31;0.31	5.75	1.44	0.22558	Neuregulin 1-related, C-terminal (1);	0.245097	0.39210	N	0.001424	T	0.34571	0.0902	N	0.12182	0.205	0.09310	N	1	B;B;B;B;B;B;B	0.21452	0.056;0.01;0.007;0.0;0.026;0.018;0.006	B;B;B;B;B;B;B	0.16722	0.016;0.009;0.015;0.0;0.009;0.015;0.009	T	0.25710	-1.0124	10	0.54805	T	0.06	-11.3637	8.1095	0.30907	0.0:0.6117:0.1098:0.2786	.	349;477;511;514;503;506;511	B7Z1E3;F8W9E3;Q7RTW4;Q02297-2;Q02297-7;Q02297;Q02297-6	.;.;.;.;.;NRG1_HUMAN;.	V	473;456;579;514;511;506;477;503;506;349	ENSP00000430053:A473V;ENSP00000429582:A456V;ENSP00000429067:A579V;ENSP00000343395:A514V;ENSP00000349275:A511V;ENSP00000287840:A506V;ENSP00000287845:A477V;ENSP00000287842:A503V;ENSP00000384620:A506V;ENSP00000439276:A349V	ENSP00000287840:A506V	A	+	2	0	NRG1	32741056	0.365000	0.25006	0.919000	0.36401	0.012000	0.07955	0.541000	0.23207	0.366000	0.24427	-0.463000	0.05309	GCG		0.547	NRG1-017	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000472504.1			9	24	0	0	0	1	0	9	24					T	32621514	C	T	32621514	3	4	1	1	0	0	0	0	1	0	0	0	10647	768	27	1	3288	1	NRG1	8	32621514	Missense_Mutation	SNP	C	TCGA-2A-A8VL-01A-21D-A377-08		32621514	113742508	16	16											
ADAM18	8749	broad.mit.edu	37	chr8	39495171	39495171	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	attacaaagatttttggcatGgaaacgggactatctcatcc	13	12	8	8	1	1	1	1	0	1	1	3	3	2	3	1	3	2	1	1	3	4	4			TCGA-2A-A8VL-01A-21D-A377-08	TCGA-2A-A8VL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47c9044-6b22-4de5-bb95-8f1114d63b96	58fd9726-f7b9-4e5a-8e51-73a8971a1317	g.chr8:39495171G>A	ENST00000265707.5	+	9	821	c.776G>A	c.(775-777)tGg>tAg	p.W259*	ADAM18_ENST00000541111.1_5'UTR|ADAM18_ENST00000379866.1_Nonsense_Mutation_p.W235*	NM_014237.2	NP_055052.1	Q9Y3Q7	ADA18_HUMAN	ADAM metallopeptidase domain 18	259	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(31)|ovary(1)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)	71		all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112)	LUSC - Lung squamous cell carcinoma(45;0.000199)			TTTTTGGCATGGAAACGGGAC	0.358																																						ENST00000265707.5																			0				NS(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(31)|ovary(1)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)	71						c.(775-777)tGg>tAg		ADAM metallopeptidase domain 18							109	105	107					8																	39495171		2203	4299	6502	SO:0001587	stop_gained	8749				cell differentiation|multicellular organismal development|proteolysis|spermatogenesis	integral to membrane|membrane fraction	metalloendopeptidase activity|zinc ion binding	g.chr8:39495171G>A	AJ133004	CCDS6113.1, CCDS55225.1	8p11.22	2008-08-07	2005-08-18		ENSG00000168619	ENSG00000168619		"ADAM metallopeptidase domain containing"	196	protein-coding gene	gene with protein product			"a disintegrin and metalloproteinase domain 18"			12200459	Standard	NM_014237		Approved	tMDCIII, ADAM27	uc003xni.3	Q9Y3Q7	OTTHUMG00000164040	ENST00000265707.5:c.776G>A	8.37:g.39495171G>A	ENSP00000265707:p.Trp259*					ADAM18_ENST00000541111.1_5'UTR|ADAM18_ENST00000379866.1_Nonsense_Mutation_p.W235*	p.W259*	NM_014237.2	NP_055052.1	Q9Y3Q7	ADA18_HUMAN	LUSC - Lung squamous cell carcinoma(45;0.000199)		9	821	+		all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112)	259			Peptidase M12B.		B2R9Y0|Q0VAI4|Q6IRW9|Q6UXJ9	Nonsense_Mutation	SNP	ENST00000265707.5	37	c.776G>A	CCDS6113.1	.	.	.	.	.	.	.	.	.	.	G	37	6.507653	0.97624	.	.	ENSG00000168619	ENST00000265707;ENST00000379866;ENST00000522198	.	.	.	5.3	5.3	0.74995	.	0.310895	0.23859	N	0.043865	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.3999	0.67037	0.0:0.0:1.0:0.0	.	.	.	.	X	259;235;191	.	ENSP00000265707:W259X	W	+	2	0	ADAM18	39614328	1.000000	0.71417	0.983000	0.44433	0.714000	0.41099	5.531000	0.67148	2.781000	0.95711	0.650000	0.86243	TGG		0.358	ADAM18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376916.1	NM_014237		18	65	0	0	0	1	0	18	65					A	39495171	G	A	39495171	4	1	1	1	0	0	0	0	0	1	0	0	239	1357	47	3	810	3	ADAM18	8	39495171	Nonsense_Mutation	SNP	G	TCGA-2A-A8VL-01A-21D-A377-08	6873657	39495171	106868851	17	17											
ANK1	286	broad.mit.edu	37	chr8	41519413	41519413	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cctcctcgtgctcctgggcgGcatcggcgctggacaagtct	4	9	13	15	4	1	0	0	0	1	0	5	1	3	1	3	4	1	3	3	4	1	0			TCGA-2A-A8VL-01A-21D-A377-08	TCGA-2A-A8VL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47c9044-6b22-4de5-bb95-8f1114d63b96	58fd9726-f7b9-4e5a-8e51-73a8971a1317	g.chr8:41519413G>A	ENST00000347528.4	-	41	5608	c.5525C>T	c.(5524-5526)gCc>gTc	p.A1842V	RP11-930P14.1_ENST00000585088.1_RNA|MIR486_ENST00000408108.1_RNA|ANK1_ENST00000352337.4_Intron|ANK1_ENST00000522231.1_Missense_Mutation_p.A117V|ANK1_ENST00000457297.1_Intron|ANK1_ENST00000289734.7_Missense_Mutation_p.A1842V|ANK1_ENST00000379758.2_Intron|ANK1_ENST00000396945.1_Intron|ANK1_ENST00000314214.8_Missense_Mutation_p.A117V|RP11-930P14.1_ENST00000522388.1_RNA|ANK1_ENST00000396942.1_Missense_Mutation_p.A1842V|RP11-930P14.1_ENST00000520418.1_RNA|ANK1_ENST00000522543.1_Missense_Mutation_p.A117V|ANK1_ENST00000265709.8_Missense_Mutation_p.A1883V	NM_020475.2|NM_020476.2|NM_020477.2	NP_065208.2|NP_065209.2|NP_065210.2	P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	1842	55 kDa regulatory domain.				axon guidance (GO:0007411)|cytoskeleton organization (GO:0007010)|ER to Golgi vesicle-mediated transport (GO:0006888)|erythrocyte development (GO:0048821)|exocytosis (GO:0006887)|maintenance of epithelial cell apical/basal polarity (GO:0045199)|monovalent inorganic cation transport (GO:0015672)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of organelle organization (GO:0010638)|protein targeting to plasma membrane (GO:0072661)|signal transduction (GO:0007165)	axolemma (GO:0030673)|basolateral plasma membrane (GO:0016323)|cortical cytoskeleton (GO:0030863)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|M band (GO:0031430)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|cytoskeletal adaptor activity (GO:0008093)|enzyme binding (GO:0019899)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			CTCCTGGGCGGCATCGGCGCT	0.572																																						ENST00000396942.1																			0				breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122						c.(5524-5526)gCc>gTc		ankyrin 1, erythrocytic							50	55	53					8																	41519413		2203	4300	6503	SO:0001583	missense	286				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton	g.chr8:41519413G>A	M28880	CCDS6119.1, CCDS6121.1, CCDS6122.1, CCDS47849.1, CCDS55227.1	8p11.21	2013-01-10			ENSG00000029534	ENSG00000029534		"Ankyrin repeat domain containing"	492	protein-coding gene	gene with protein product		612641		ANK		1689849	Standard	NM_001142445		Approved	SPH1	uc003xom.3	P16157	OTTHUMG00000150281	ENST00000347528.4:c.5525C>T	8.37:g.41519413G>A	ENSP00000339620:p.Ala1842Val					RP11-930P14.1_ENST00000585088.1_RNA|ANK1_ENST00000379758.2_Intron|ANK1_ENST00000457297.1_Intron|ANK1_ENST00000522231.1_Missense_Mutation_p.A117V|RP11-930P14.1_ENST00000520418.1_RNA|ANK1_ENST00000265709.8_Missense_Mutation_p.A1883V|ANK1_ENST00000352337.4_Intron|RP11-930P14.1_ENST00000522388.1_RNA|ANK1_ENST00000289734.7_Missense_Mutation_p.A1842V|ANK1_ENST00000347528.4_Missense_Mutation_p.A1842V|ANK1_ENST00000522543.1_Missense_Mutation_p.A117V|ANK1_ENST00000314214.8_Missense_Mutation_p.A117V|ANK1_ENST00000396945.1_Intron	p.A1842V			P16157	ANK1_HUMAN	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)		41	5608	-	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	1842			55 kDa regulatory domain.		A0PJN8|A6NJ23|E5RFL7|O43400|Q13768|Q53ER1|Q59FP2|Q8N604|Q99407	Missense_Mutation	SNP	ENST00000347528.4	37	c.5525C>T	CCDS6119.1	.	.	.	.	.	.	.	.	.	.	G	9.965	1.223834	0.22457	.	.	ENSG00000029534	ENST00000347528;ENST00000289734;ENST00000396942;ENST00000522231;ENST00000522543;ENST00000314214;ENST00000265709	T;T;T;D;D;D;T	0.86432	-0.2;-0.18;-0.18;-1.71;-2.11;-2.12;-0.23	5.94	2.12	0.27331	.	0.199600	0.40144	N	0.001173	T	0.81645	0.4866	L	0.42245	1.32	0.53005	D	0.99996	P;B;B;B;B;B;B;P;P	0.39940	0.481;0.005;0.125;0.001;0.0;0.0;0.076;0.572;0.696	B;B;B;B;B;B;B;B;B	0.41946	0.137;0.002;0.056;0.0;0.0;0.001;0.042;0.371;0.173	T	0.76465	-0.2949	10	0.42905	T	0.14	.	8.182	0.31315	0.0:0.0672:0.2624:0.6704	.	117;1883;1680;1842;1842;1842;996;117;117	Q6PK32;P16157-21;P16157-4;P16157;P16157-5;P16157-3;B3KX39;Q53ER1;E5RFL7	.;.;.;ANK1_HUMAN;.;.;.;.;.	V	1842;1842;1842;117;117;117;1883	ENSP00000339620:A1842V;ENSP00000289734:A1842V;ENSP00000380147:A1842V;ENSP00000428750:A117V;ENSP00000430368:A117V;ENSP00000319123:A117V;ENSP00000265709:A1883V	ENSP00000265709:A1883V	A	-	2	0	ANK1	41638570	0.851000	0.29673	0.459000	0.27081	0.000000	0.00434	0.325000	0.19628	0.502000	0.28037	-0.397000	0.06425	GCC		0.572	ANK1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317297.1	NM_020475		3	48	0	0	0	1	0	3	48					A	41519413	G	A	41519413	3	1	1	1	0	0	0	0	1	0	0	0	620	1203	42	3	231	3	ANK1	8	41519413	Missense_Mutation	SNP	G	TCGA-2A-A8VL-01A-21D-A377-08	2024242	41519413	104844609	18	18											
ABCA1	19	broad.mit.edu	37	chr9	107593339	107593339	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaagcccccccagacgtaccGcatgtcctcaaaggggtcag	10	5	11	15	2	2	1	2	0	0	1	3	2	3	1	5	2	2	2	5	2	3	1	rs2853574		TCGA-2A-A8VL-01A-21D-A377-08	TCGA-2A-A8VL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47c9044-6b22-4de5-bb95-8f1114d63b96	58fd9726-f7b9-4e5a-8e51-73a8971a1317	g.chr9:107593339G>A	ENST00000374736.3	-	14	2153	c.1759C>T	c.(1759-1761)Cgg>Tgg	p.R587W	ABCA1_ENST00000494467.1_5'Flank	NM_005502.3	NP_005493.2	O95477	ABCA1_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 1	587			R -> W (in HDLD1; dbSNP:rs2853574). {ECO:0000269|PubMed:11257260}.		apolipoprotein A-I-mediated signaling pathway (GO:0038027)|cellular lipid metabolic process (GO:0044255)|cellular response to cholesterol (GO:0071397)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to retinoic acid (GO:0071300)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|endosomal transport (GO:0016197)|G-protein coupled receptor signaling pathway (GO:0007186)|high-density lipoprotein particle assembly (GO:0034380)|interleukin-1 beta secretion (GO:0050702)|intracellular cholesterol transport (GO:0032367)|lipoprotein metabolic process (GO:0042157)|lysosome organization (GO:0007040)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|peptide secretion (GO:0002790)|phagocytosis, engulfment (GO:0006911)|phospholipid efflux (GO:0033700)|phospholipid homeostasis (GO:0055091)|phospholipid translocation (GO:0045332)|platelet dense granule organization (GO:0060155)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cholesterol efflux (GO:0010875)|protein lipidation (GO:0006497)|regulation of Cdc42 protein signal transduction (GO:0032489)|response to drug (GO:0042493)|response to laminar fluid shear stress (GO:0034616)|response to low-density lipoprotein particle (GO:0055098)|response to nutrient (GO:0007584)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)	endocytic vesicle (GO:0030139)|external side of plasma membrane (GO:0009897)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)	anion transmembrane transporter activity (GO:0008509)|apolipoprotein A-I binding (GO:0034186)|apolipoprotein A-I receptor activity (GO:0034188)|apolipoprotein binding (GO:0034185)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase binding (GO:0051117)|cholesterol binding (GO:0015485)|cholesterol transporter activity (GO:0017127)|phospholipid binding (GO:0005543)|phospholipid transporter activity (GO:0005548)|receptor binding (GO:0005102)|small GTPase binding (GO:0031267)|syntaxin binding (GO:0019905)			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	115				OV - Ovarian serous cystadenocarcinoma(323;0.023)	Adenosine triphosphate(DB00171)|Glyburide(DB01016)|Probucol(DB01599)	CAGACGTACCGCATGTCCTCA	0.502																																						ENST00000374736.3																			0				NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	115	GRCh37	CM993803	ABCA1	M	rs2853574	c.(1759-1761)Cgg>Tgg		ATP-binding cassette, sub-family A (ABC1), member 1	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)						90	78	82					9																	107593339		2203	4300	6503	SO:0001583	missense	19				Cdc42 protein signal transduction|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport	integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle	anion transmembrane transporter activity|apolipoprotein A-I receptor activity|ATP binding|ATPase activity|cholesterol transporter activity|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding	g.chr9:107593339G>A	AJ012376	CCDS6762.1	9q31	2014-03-14			ENSG00000165029	ENSG00000165029		"ATP binding cassette transporters / subfamily A"	29	protein-coding gene	gene with protein product	"Tangier disease"	600046		ABC1, HDLDT1		8088782, 10431236, 10431237, 10431238	Standard	NM_005502		Approved	TGD	uc004bcl.3	O95477	OTTHUMG00000020417	ENST00000374736.3:c.1759C>T	9.37:g.107593339G>A	ENSP00000363868:p.Arg587Trp						p.R587W	NM_005502.3	NP_005493.2	O95477	ABCA1_HUMAN		OV - Ovarian serous cystadenocarcinoma(323;0.023)	14	2153	-			587		R -> W (in HDLD1; dbSNP:rs2853574).			Q5VX33|Q96S56|Q96T85|Q9NQV4|Q9UN06|Q9UN07|Q9UN08|Q9UN09	Missense_Mutation	SNP	ENST00000374736.3	37	c.1759C>T	CCDS6762.1	.	.	.	.	.	.	.	.	.	.	G	26.7	4.759367	0.89932	.	.	ENSG00000165029	ENST00000374736	D	0.97665	-4.48	5.93	5.02	0.67125	.	0.000000	0.85682	D	0.000000	D	0.98557	0.9518	M	0.87097	2.86	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99353	1.0915	10	0.66056	D	0.02	.	16.3651	0.83317	0.0:0.0:0.8671:0.1329	rs2853574	587	O95477	ABCA1_HUMAN	W	587	ENSP00000363868:R587W	ENSP00000363868:R587W	R	-	1	2	ABCA1	106633160	1.000000	0.71417	0.999000	0.59377	0.732000	0.41865	7.973000	0.88032	1.467000	0.48044	0.561000	0.74099	CGG		0.502	ABCA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053491.1	NM_005502		3	49	0	0	0	1	0	3	49					A	107593339	G	A	107593339	3	1	1	1	0	0	0	0	1	0	0	0	28	1086	38	1	5174	1	ABCA1	9	107593339	Missense_Mutation	SNP	G	TCGA-2A-A8VL-01A-21D-A377-08		107593339	33620092	19	19											
SVIL	6840	broad.mit.edu	37	chr10	29775061	29775061	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cggaattttcccccagtagtCgtcatcaggaacaagtttgt	10	12	9	10	2	2	0	2	0	0	0	4	2	3	2	2	2	1	2	2	2	4	4			TCGA-2A-A8VL-01A-21D-A377-08	TCGA-2A-A8VL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47c9044-6b22-4de5-bb95-8f1114d63b96	58fd9726-f7b9-4e5a-8e51-73a8971a1317	g.chr10:29775061C>T	ENST00000355867.4	-	26	5484	c.4732G>A	c.(4732-4734)Gac>Aac	p.D1578N	PTCHD3P1_ENST00000413405.1_RNA|SVIL_ENST00000535393.1_Missense_Mutation_p.D492N|SVIL_ENST00000538146.1_Missense_Mutation_p.D370N|PTCHD3P1_ENST00000414457.1_RNA|PTCHD3P1_ENST00000423223.1_RNA|SVIL_ENST00000375398.2_Missense_Mutation_p.D1578N|SVIL_ENST00000375400.3_Missense_Mutation_p.D1152N|PTCHD3P1_ENST00000446807.1_RNA	NM_021738.2	NP_068506.2	O95425	SVIL_HUMAN	supervillin	1578	Interaction with NEB.				cytoskeleton organization (GO:0007010)|skeletal muscle tissue development (GO:0007519)	actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|costamere (GO:0043034)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112		Breast(68;0.103)				CCCCAGTAGTCGTCATCAGGA	0.473																																						ENST00000375398.2																			0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112						c.(4732-4734)Gac>Aac		supervillin							105	97	100					10																	29775061		2203	4300	6503	SO:0001583	missense	6840				cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding	g.chr10:29775061C>T	AF051851	CCDS7163.1, CCDS7164.1	10p11.2	2008-07-29			ENSG00000197321	ENSG00000197321			11480	protein-coding gene	gene with protein product	"archvillin"	604126				9382871	Standard	NM_003174		Approved		uc001iut.1	O95425	OTTHUMG00000017882	ENST00000355867.4:c.4732G>A	10.37:g.29775061C>T	ENSP00000348128:p.Asp1578Asn					SVIL_ENST00000538146.1_Missense_Mutation_p.D370N|SVIL_ENST00000375400.3_Missense_Mutation_p.D1152N|SVIL_ENST00000535393.1_Missense_Mutation_p.D492N|PTCHD3P1_ENST00000413405.1_RNA|SVIL_ENST00000355867.4_Missense_Mutation_p.D1578N	p.D1578N			O95425	SVIL_HUMAN			28	5181	-		Breast(68;0.103)	1578			Interaction with NEB.		D3DRW9|M1J557|O60611|O60612|Q5VZK5|Q5VZK6|Q9H1R7	Missense_Mutation	SNP	ENST00000355867.4	37	c.4732G>A	CCDS7164.1	.	.	.	.	.	.	.	.	.	.	C	24.4	4.531286	0.85706	.	.	ENSG00000197321	ENST00000375400;ENST00000375398;ENST00000355867;ENST00000535393;ENST00000535994;ENST00000538146	T;T;T;T;D	0.86030	2.73;2.76;2.76;2.62;-2.06	4.44	3.46	0.39613	.	0.086330	0.85682	D	0.000000	D	0.82582	0.5068	L	0.48642	1.525	0.49299	D	0.999776	P;B;B;B	0.47604	0.898;0.26;0.405;0.226	P;B;B;B	0.44732	0.459;0.063;0.094;0.03	D	0.85624	0.1266	10	0.72032	D	0.01	-35.9964	14.4534	0.67401	0.1473:0.8527:0.0:0.0	.	492;370;1152;1578	F5H2Q5;F5GXV0;O95425-2;O95425	.;.;.;SVIL_HUMAN	N	1152;1578;1578;492;532;370	ENSP00000364549:D1152N;ENSP00000364547:D1578N;ENSP00000348128:D1578N;ENSP00000445472:D492N;ENSP00000440343:D370N	ENSP00000348128:D1578N	D	-	1	0	SVIL	29815067	1.000000	0.71417	0.982000	0.44146	0.898000	0.52572	4.650000	0.61440	2.469000	0.83416	0.549000	0.68633	GAC		0.473	SVIL-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047395.1			11	62	0	0	0	1	0	11	62					T	29775061	C	T	29775061	3	4	1	1	0	0	0	0	1	0	0	0	15418	884	31	2	1964	2	SVIL	10	29775061	Missense_Mutation	SNP	C	TCGA-2A-A8VL-01A-21D-A377-08		29775061	105759686	20	20											
DNHD1	144132	broad.mit.edu	37	chr11	6541310	6541310	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tctaactggaggcctacagtCtgtcaagacctctgccttgc	8	11	9	13	0	4	1	1	0	3	1	4	2	4	2	3	2	4	0	3	2	3	3			TCGA-2A-A8VL-01A-21D-A377-08	TCGA-2A-A8VL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47c9044-6b22-4de5-bb95-8f1114d63b96	58fd9726-f7b9-4e5a-8e51-73a8971a1317	g.chr11:6541310C>T	ENST00000527990.2	+	7	1763	c.1763C>T	c.(1762-1764)tCt>tTt	p.S588F	DNHD1_ENST00000254579.6_Missense_Mutation_p.S588F|DNHD1_ENST00000354685.3_Missense_Mutation_p.S588F			Q96M86	DNHD1_HUMAN	dynein heavy chain domain 1	588					microtubule-based movement (GO:0007018)	dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)	microtubule motor activity (GO:0003777)			NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(13)|kidney(6)|large_intestine(11)|lung(14)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	55		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171)		Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		GGCCTACAGTCTGTCAAGACC	0.483																																						ENST00000254579.6																			0				NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(13)|kidney(6)|large_intestine(11)|lung(14)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	55						c.(1762-1764)tCt>tTt		dynein heavy chain domain 1							90	81	84					11																	6541310		2201	4296	6497	SO:0001583	missense	144132				microtubule-based movement	dynein complex	microtubule motor activity	g.chr11:6541310C>T	AK128064	CCDS44532.1, CCDS7767.1	11p15.4	2011-02-10		2005-11-28	ENSG00000179532	ENSG00000179532			26532	protein-coding gene	gene with protein product			"chromosome 11 open reading frame 47", "dynein heavy chain domain 1-like", "coiled-coil domain containing 35"	DHCD1, C11orf47, DNHD1L, CCDC35		12975309	Standard	NM_173589		Approved	FLJ32752, FLJ46184, FLJ35709, DKFZp686J0796	uc001mdw.4	Q96M86	OTTHUMG00000133403	ENST00000527990.2:c.1763C>T	11.37:g.6541310C>T	ENSP00000436180:p.Ser588Phe					DNHD1_ENST00000527990.2_Missense_Mutation_p.S588F|DNHD1_ENST00000354685.3_Missense_Mutation_p.S588F	p.S588F	NM_144666.2	NP_653267.2	Q96M86	DNHD1_HUMAN		Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)	9	2327	+		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171)	588					Q2NKK8|Q6UWI9|Q8NAA2|Q8TEE6|Q9NSZ9	Missense_Mutation	SNP	ENST00000527990.2	37	c.1763C>T	CCDS44532.1	.	.	.	.	.	.	.	.	.	.	C	14.06	2.423370	0.43020	.	.	ENSG00000179532	ENST00000254579;ENST00000354685;ENST00000527990	T;T;T	0.28666	1.6;2.64;1.6	5.68	1.36	0.22044	.	1.079220	0.07045	N	0.830885	T	0.22742	0.0549	L	0.29908	0.895	0.09310	N	1	B;B	0.17465	0.022;0.009	B;B	0.14023	0.008;0.01	T	0.30794	-0.9966	10	0.62326	D	0.03	.	6.274	0.20971	0.4785:0.4355:0.0:0.086	.	588;588	Q96M86;Q96M86-4	DNHD1_HUMAN;.	F	588	ENSP00000254579:S588F;ENSP00000346716:S588F;ENSP00000436180:S588F	ENSP00000254579:S588F	S	+	2	0	DNHD1	6497886	0.000000	0.05858	0.000000	0.03702	0.456000	0.32438	-0.293000	0.08320	0.298000	0.22638	0.561000	0.74099	TCT		0.483	DNHD1-007	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384673.2	NM_144666		13	36	0	0	0	1	0	13	36					T	6541310	C	T	6541310	3	4	1	1	0	0	0	0	1	0	0	0	4668	913	32	3	1789	3	DNHD1	11	6541310	Missense_Mutation	SNP	C	TCGA-2A-A8VL-01A-21D-A377-08		6541310	128465206	21	21											
LDHC	3948	broad.mit.edu	37	chr11	18460141	18460141	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tctggaccctaaattaggaaCggattcagataaggaacact	15	9	9	8	1	2	1	1	0	1	1	2	5	2	5	1	4	2	0	1	4	6	4	rs181881801		TCGA-2A-A8VL-01A-21D-A377-08	TCGA-2A-A8VL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47c9044-6b22-4de5-bb95-8f1114d63b96	58fd9726-f7b9-4e5a-8e51-73a8971a1317	g.chr11:18460141C>T	ENST00000541669.1	+	6	770	c.659C>T	c.(658-660)aCg>aTg	p.T220M	LDHC_ENST00000544105.1_Missense_Mutation_p.T220M|LDHC_ENST00000280704.4_Missense_Mutation_p.T220M|LDHC_ENST00000536880.1_Missense_Mutation_p.T206M|LDHC_ENST00000546146.1_Missense_Mutation_p.T162M|LDHC_ENST00000535809.1_Intron|LDHC_ENST00000537486.1_Intron			P07864	LDHC_HUMAN	lactate dehydrogenase C	220					ATP biosynthetic process (GO:0006754)|cellular carbohydrate metabolic process (GO:0044262)|lactate biosynthetic process from pyruvate (GO:0019244)|lactate oxidation (GO:0019516)|sperm motility (GO:0030317)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|motile cilium (GO:0031514)|nucleus (GO:0005634)	L-lactate dehydrogenase activity (GO:0004459)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						AAATTAGGAACGGATTCAGAT	0.358													C|||	1	0.000199681	0	0	5008	,	,		19905	0.001		0	False		,,,				2504	0					ENST00000541669.1																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						c.(658-660)aCg>aTg		lactate dehydrogenase C	NADH(DB00157)						149	136	140					11																	18460141		2199	4293	6492	SO:0001583	missense	3948				glycolysis	cytoplasm	binding|L-lactate dehydrogenase activity	g.chr11:18460141C>T	AY286300	CCDS7840.1	11p15.1	2012-10-02			ENSG00000166796	ENSG00000166796	1.1.1.27		6544	protein-coding gene	gene with protein product	"cancer/testis antigen 32"	150150					Standard	NM_002301		Approved	CT32	uc001mom.4	P07864	OTTHUMG00000167722	ENST00000541669.1:c.659C>T	11.37:g.18460141C>T	ENSP00000437783:p.Thr220Met					LDHC_ENST00000537486.1_Intron|LDHC_ENST00000536880.1_Missense_Mutation_p.T206M|LDHC_ENST00000280704.4_Missense_Mutation_p.T220M|LDHC_ENST00000546146.1_Missense_Mutation_p.T162M|LDHC_ENST00000535809.1_Intron|LDHC_ENST00000544105.1_Missense_Mutation_p.T220M	p.T220M			P07864	LDHC_HUMAN			6	770	+			220					D3DQY4|Q6GSG8|Q7Z7J4	Missense_Mutation	SNP	ENST00000541669.1	37	c.659C>T	CCDS7840.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	8.804	0.933576	0.18206	.	.	ENSG00000166796	ENST00000541669;ENST00000280704;ENST00000546146;ENST00000536880;ENST00000544105	T;T;T;T;T	0.67523	-0.27;-0.27;-0.27;-0.27;-0.27	5.4	2.44	0.29823	Lactate/malate dehydrogenase, C-terminal (1);Lactate dehydrogenase/glycoside hydrolase, family 4, C-terminal (2);	0.175696	0.49305	D	0.000142	T	0.62684	0.2448	M	0.64260	1.97	0.80722	D	1	P;P	0.39376	0.619;0.67	B;B	0.34652	0.075;0.187	T	0.66212	-0.5980	10	0.56958	D	0.05	-12.6413	16.3324	0.83048	0.0:0.6272:0.3728:0.0	.	220;220	G3XAP5;P07864	.;LDHC_HUMAN	M	220;220;162;206;220	ENSP00000437783:T220M;ENSP00000280704:T220M;ENSP00000443414:T162M;ENSP00000439555:T206M;ENSP00000439060:T220M	ENSP00000280704:T220M	T	+	2	0	LDHC	18416717	0.999000	0.42202	0.701000	0.30321	0.013000	0.08279	2.905000	0.48727	0.378000	0.24764	0.655000	0.94253	ACG		0.358	LDHC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395892.1	NM_017448		14	42	0	0	0	1	0	14	42					T	18460141	C	T	18460141	3	4	1	1	0	0	0	0	1	0	0	0	8702	536	19	1	677	1	LDHC	11	18460141	Missense_Mutation	SNP	C	TCGA-2A-A8VL-01A-21D-A377-08	11918831	18460141	116546375	22	22											
OR5D16	390144	broad.mit.edu	37	chr11	55606971	55606971	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acctgtgcctcccacctgacTgccatcaccatcttccatgg	7	10	6	18	0	2	1	1	1	1	0	4	1	4	1	7	1	2	0	7	1	0	1			TCGA-2A-A8VL-01A-21D-A377-08	TCGA-2A-A8VL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47c9044-6b22-4de5-bb95-8f1114d63b96	58fd9726-f7b9-4e5a-8e51-73a8971a1317	g.chr11:55606971T>A	ENST00000378396.1	+	1	744	c.744T>A	c.(742-744)acT>acA	p.T248T		NM_001005496.1	NP_001005496.1	Q8NGK9	OR5DG_HUMAN	olfactory receptor, family 5, subfamily D, member 16	248						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(1)|endometrium(2)|large_intestine(4)|lung(26)|ovary(5)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	44		all_epithelial(135;0.208)				CCCACCTGACTGCCATCACCA	0.507																																						ENST00000378396.1																			0				cervix(1)|endometrium(2)|large_intestine(4)|lung(26)|ovary(5)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	44						c.(742-744)acT>acA		olfactory receptor, family 5, subfamily D, member 16							145	125	132					11																	55606971		2201	4296	6497	SO:0001819	synonymous_variant	390144				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55606971T>A	AB065783	CCDS31512.1	11q11	2012-08-09			ENSG00000205029	ENSG00000205029		"GPCR / Class A : Olfactory receptors"	15283	protein-coding gene	gene with protein product							Standard	NM_001005496		Approved		uc010rio.2	Q8NGK9	OTTHUMG00000154233	ENST00000378396.1:c.744T>A	11.37:g.55606971T>A							p.T248T	NM_001005496.1	NP_001005496.1	Q8NGK9	OR5DG_HUMAN			1	744	+		all_epithelial(135;0.208)	248					Q6IF65|Q96RB4	Silent	SNP	ENST00000378396.1	37	c.744T>A	CCDS31512.1																																																																																				0.507	OR5D16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334506.1	NM_001005496		11	60	0	0	0	1	0	11	60					A	55606971	T	A	55606971	2	1	1	1	0	0	0	0	0	0	0	1	11156	1567	55	5		5	OR5D16	11	55606971	Silent	SNP	T	TCGA-2A-A8VL-01A-21D-A377-08	37146830	55606971	79399545	23	23											
TMED10	10972	broad.mit.edu	37	chr14	75602590	75602590	+	Splice_Site	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agcttctcaacttttgcaatCtggaaaagaatggaatattt	14	14	7	6	0	2	1	1	0	2	1	3	3	2	3	0	2	3	2	0	2	7	5			TCGA-2A-A8VL-01A-21D-A377-08	TCGA-2A-A8VL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47c9044-6b22-4de5-bb95-8f1114d63b96	58fd9726-f7b9-4e5a-8e51-73a8971a1317	g.chr14:75602590C>G	ENST00000303575.4	-	4	463		c.e4-1		TMED10_ENST00000557670.1_Splice_Site|RP11-950C14.7_ENST00000556236.1_RNA	NM_006827.5	NP_006818.3	P49755	TMEDA_HUMAN	transmembrane emp24-like trafficking protein 10 (yeast)						beta-amyloid formation (GO:0034205)|cargo loading into vesicle (GO:0035459)|COPI coating of Golgi vesicle (GO:0048205)|COPI-coated vesicle budding (GO:0035964)|COPII vesicle coating (GO:0048208)|ER to Golgi vesicle-mediated transport (GO:0006888)|Golgi organization (GO:0007030)|intracellular protein transport (GO:0006886)|kidney development (GO:0001822)|protein oligomerization (GO:0051259)|regulated secretory pathway (GO:0045055)|response to acid chemical (GO:0001101)|response to alkaloid (GO:0043279)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|vesicle targeting, to, from or within Golgi (GO:0048199)	cis-Golgi network (GO:0005801)|COPI-coated vesicle (GO:0030137)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular vesicular exosome (GO:0070062)|gamma-secretase complex (GO:0070765)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|secretory granule membrane (GO:0030667)|trans-Golgi network transport vesicle (GO:0030140)|zymogen granule membrane (GO:0042589)	syntaxin binding (GO:0019905)			endometrium(1)|large_intestine(5)|lung(3)	9				BRCA - Breast invasive adenocarcinoma(234;0.0126)		CTTTTGCAATCTGGAAAAGAA	0.368																																						ENST00000303575.4																			0				endometrium(1)|large_intestine(5)|lung(3)	9						c.e4-1		transmembrane emp24-like trafficking protein 10 (yeast)							70	67	68					14																	75602590		2203	4300	6503	SO:0001630	splice_region_variant	10972				protein transport|regulated secretory pathway|vesicle targeting, to, from or within Golgi	cis-Golgi network|ER-Golgi intermediate compartment|Golgi membrane|integral to membrane|melanosome|microsome|zymogen granule membrane	protein binding	g.chr14:75602590C>G	AL832012, X97442	CCDS9840.1	14q24.3	2008-08-11			ENSG00000170348	ENSG00000170348			16998	protein-coding gene	gene with protein product		605406				7596406, 8663407	Standard	NM_006827		Approved	TMP21, P24(DELTA)	uc001xrm.1	P49755		ENST00000303575.4:c.412-1G>C	14.37:g.75602590C>G						RP11-950C14.7_ENST00000556236.1_RNA|TMED10_ENST00000557670.1_Splice_Site		NM_006827.5	NP_006818.3	P49755	TMEDA_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0126)	4	463	-								B2R605|Q15602|Q16536|Q86TC2|Q86TS5	Splice_Site	SNP	ENST00000303575.4	37		CCDS9840.1	.	.	.	.	.	.	.	.	.	.	C	24.3	4.521318	0.85600	.	.	ENSG00000170348	ENST00000303575	.	.	.	5.62	5.62	0.85841	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.6584	0.95853	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TMED10	74672343	1.000000	0.71417	1.000000	0.80357	0.917000	0.54804	7.442000	0.80503	2.645000	0.89757	0.460000	0.39030	.		0.368	TMED10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415034.1	NM_006827	Intron	20	40	0	0	0	1	0	20	40					G	75602590	C	G	75602590	5	3	1	1	0	0	0	0	0	0	1	0	16000	927	32	5	256	5	TMED10	14	75602590	Splice_Site	SNP	C	TCGA-2A-A8VL-01A-21D-A377-08		75602590	31746950	24	24											
ATG2B	55102	broad.mit.edu	37	chr14	96829289	96829289	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccggcaggccctcttcttgaTggactccgaaaacggccaag	9	7	11	14	3	2	1	0	1	2	0	3	3	3	2	4	4	1	1	4	4	3	2			TCGA-2A-A8VL-01A-21D-A377-08	TCGA-2A-A8VL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47c9044-6b22-4de5-bb95-8f1114d63b96	58fd9726-f7b9-4e5a-8e51-73a8971a1317	g.chr14:96829289T>C	ENST00000359933.4	-	1	918	c.25A>G	c.(25-27)Atc>Gtc	p.I9V	GSKIP_ENST00000554182.1_5'Flank|GSKIP_ENST00000555181.1_5'Flank|GSKIP_ENST00000556095.1_5'Flank	NM_018036.5	NP_060506	Q96BY7	ATG2B_HUMAN	autophagy related 2B	9					autophagic vacuole assembly (GO:0000045)|cellular response to nitrogen starvation (GO:0006995)|mitochondrion degradation (GO:0000422)|nucleophagy (GO:0044804)	extrinsic component of membrane (GO:0019898)|lipid particle (GO:0005811)|pre-autophagosomal structure (GO:0000407)				breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7)	64		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)		CTCTTCTTGATGGACTCCGAA	0.647																																						ENST00000359933.4																			0				breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7)	64						c.(25-27)Atc>Gtc		autophagy related 2B							51	55	54					14																	96829289		2099	4231	6330	SO:0001583	missense	55102							g.chr14:96829289T>C	AK001104	CCDS9944.2	14q32.31	2014-02-12	2012-06-06	2007-07-31	ENSG00000066739	ENSG00000066739			20187	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 103", "ATG2 autophagy related 2 homolog B (S. cerevisiae)"	C14orf103		22350415	Standard	NM_018036		Approved	FLJ10242	uc001yfi.3	Q96BY7	OTTHUMG00000149933	ENST00000359933.4:c.25A>G	14.37:g.96829289T>C	ENSP00000353010:p.Ile9Val						p.I9V	NM_018036.5	NP_060506.5	Q96BY7	ATG2B_HUMAN		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)	1	918	-		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)	9					Q6ZRE7|Q96DQ3|Q9NW80	Missense_Mutation	SNP	ENST00000359933.4	37	c.25A>G	CCDS9944.2	.	.	.	.	.	.	.	.	.	.	T	16.03	3.008430	0.54361	.	.	ENSG00000066739	ENST00000359933	T	0.41758	0.99	4.02	4.02	0.46733	.	0.000000	0.64402	U	0.000004	T	0.50803	0.1637	L	0.45285	1.41	0.45330	D	0.998324	D	0.59357	0.985	D	0.67548	0.952	T	0.39396	-0.9616	10	0.16420	T	0.52	.	13.0934	0.59178	0.0:0.0:0.0:1.0	.	9	Q96BY7	ATG2B_HUMAN	V	9	ENSP00000353010:I9V	ENSP00000353010:I9V	I	-	1	0	ATG2B	95899042	1.000000	0.71417	0.995000	0.50966	0.958000	0.62258	7.106000	0.77039	1.674000	0.50907	0.402000	0.26972	ATC		0.647	ATG2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314037.1	NM_018036		18	61	0	0	0	1	0	18	61					C	96829289	T	C	96829289	3	2	1	1	0	0	0	0	1	0	0	0	1094	1464	51	4	6379	4	ATG2B	14	96829289	Missense_Mutation	SNP	T	TCGA-2A-A8VL-01A-21D-A377-08	21226699	96829289	10520251	25	25											
ASGR2	433	broad.mit.edu	37	chr17	7012080	7012080	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcccatccctgctggcccccGtgaccctcactttgggaccc	4	8	9	20	1	1	1	1	1	0	0	2	2	2	2	6	2	1	1	6	2	0	1	rs201742878		TCGA-2A-A8VL-01A-21D-A377-08	TCGA-2A-A8VL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47c9044-6b22-4de5-bb95-8f1114d63b96	58fd9726-f7b9-4e5a-8e51-73a8971a1317	g.chr17:7012080G>A	ENST00000380952.2	-	3	516	c.252C>T	c.(250-252)caC>caT	p.H84H	ASGR2_ENST00000254850.7_Intron|ASGR2_ENST00000446679.2_Silent_p.H65H|ASGR2_ENST00000355035.5_Silent_p.H84H	NM_001181.4|NM_001201352.1|NM_080912.3	NP_001172|NP_001188281.1|NP_550434	P07307	ASGR2_HUMAN	asialoglycoprotein receptor 2	84					bone mineralization (GO:0030282)|cell surface receptor signaling pathway (GO:0007166)|glycoprotein metabolic process (GO:0009100)|lipid homeostasis (GO:0055088)|receptor-mediated endocytosis (GO:0006898)|regulation of protein stability (GO:0031647)	integral component of membrane (GO:0016021)	asialoglycoprotein receptor activity (GO:0004873)|carbohydrate binding (GO:0030246)			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|skin(3)|stomach(4)	18					Antihemophilic Factor(DB00025)	GCTGGCCCCCGTGACCCTCAC	0.632																																						ENST00000380952.2																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|skin(3)|stomach(4)	18						c.(250-252)caC>caT		asialoglycoprotein receptor 2	Antihemophilic Factor(DB00025)	G	,,,,	0,4406		0,0,2203	69	59	62		252,,252,,195	0.8	0	17		62	3,8597	3.0+/-9.4	0,3,4297	no	coding-synonymous,intron,coding-synonymous,intron,coding-synonymous	ASGR2	NM_001181.4,NM_001201352.1,NM_080912.3,NM_080913.3,NM_080914.2	,,,,	0,3,6500	AA,AG,GG		0.0349,0.0,0.0231	,,,,	84/312,,84/312,,65/293	7012080	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	433				cell surface receptor linked signaling pathway|endocytosis	focal adhesion|integral to membrane|nucleolus	asialoglycoprotein receptor activity|protein binding|sugar binding	g.chr17:7012080G>A	M11025	CCDS11088.1, CCDS32544.1, CCDS45598.1	17p	2011-08-30			ENSG00000161944	ENSG00000161944		"C-type lectin domain containing"	743	protein-coding gene	gene with protein product		108361				3863106	Standard	NM_080912		Approved	CLEC4H2	uc002ger.3	P07307	OTTHUMG00000102158	ENST00000380952.2:c.252C>T	17.37:g.7012080G>A						ASGR2_ENST00000355035.5_Silent_p.H84H|ASGR2_ENST00000254850.7_Intron|ASGR2_ENST00000446679.2_Silent_p.H65H	p.H84H	NM_001181.4|NM_001201352.1|NM_080912.3	NP_001172.1|NP_001188281.1|NP_550434.1	P07307	ASGR2_HUMAN			3	516	-			84					A6NLV8|A8MT12|D3DTM9|D3DTN0|O00448|Q03969	Silent	SNP	ENST00000380952.2	37	c.252C>T	CCDS32544.1																																																																																				0.632	ASGR2-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000220003.1	NM_080914		10	10	0	0	0	1	0	10	10					A	7012080	G	A	7012080	2	1	1	1	0	0	0	0	0	0	0	1	1040	1136	40	1		1	ASGR2	17	7012080	Silent	SNP	G	TCGA-2A-A8VL-01A-21D-A377-08		7012080	74183130	26	26											
LASP1	3927	broad.mit.edu	37	chr17	37074891	37074891	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggtgtatgactacagcgccGccgacgaggacgaggtctcc	8	6	14	13	6	1	1	0	1	1	0	2	5	1	2	3	3	2	1	3	3	2	2			TCGA-2A-A8VL-01A-21D-A377-08	TCGA-2A-A8VL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47c9044-6b22-4de5-bb95-8f1114d63b96	58fd9726-f7b9-4e5a-8e51-73a8971a1317	g.chr17:37074891G>A	ENST00000318008.6	+	7	977	c.646G>A	c.(646-648)Gcc>Acc	p.A216T	LASP1_ENST00000435347.3_Missense_Mutation_p.A216T|RP1-56K13.3_ENST00000580121.1_RNA|LASP1_ENST00000433206.2_Missense_Mutation_p.A160T	NM_006148.2	NP_006139.1	Q14847	LASP1_HUMAN	LIM and SH3 protein 1	216	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				ion transport (GO:0006811)|positive regulation of signal transduction (GO:0009967)	cortical actin cytoskeleton (GO:0030864)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)	ion transmembrane transporter activity (GO:0015075)|SH3/SH2 adaptor activity (GO:0005070)|zinc ion binding (GO:0008270)			breast(1)|large_intestine(2)|lung(4)|urinary_tract(2)	9						CTACAGCGCCGCCGACGAGGA	0.637			T	MLL	AML																																	ENST00000318008.6				Dom	yes		17	17q11-q21.3	3927	T	LIM and SH3 protein 1			L	MLL		AML		0				breast(1)|large_intestine(2)|lung(4)|urinary_tract(2)	9						c.(646-648)Gcc>Acc		LIM and SH3 protein 1							105	94	98					17																	37074891		2203	4300	6503	SO:0001583	missense	3927					cortical actin cytoskeleton	ion transmembrane transporter activity|SH3/SH2 adaptor activity|zinc ion binding	g.chr17:37074891G>A		CCDS11331.1, CCDS62164.1	17q11-q21.3	2008-07-18			ENSG00000002834	ENSG00000002834			6513	protein-coding gene	gene with protein product		602920				7490069	Standard	NM_006148		Approved	MLN50, Lasp-1	uc010cvq.3	Q14847	OTTHUMG00000133182	ENST00000318008.6:c.646G>A	17.37:g.37074891G>A	ENSP00000325240:p.Ala216Thr					LASP1_ENST00000433206.2_Missense_Mutation_p.A160T|LASP1_ENST00000435347.3_Missense_Mutation_p.A216T	p.A216T	NM_006148.2	NP_006139.1	Q14847	LASP1_HUMAN			7	977	+			216			SH3.		B4DGQ0|Q96ED2|Q96IG0	Missense_Mutation	SNP	ENST00000318008.6	37	c.646G>A	CCDS11331.1	.	.	.	.	.	.	.	.	.	.	G	36	5.771642	0.96922	.	.	ENSG00000002834	ENST00000318008;ENST00000433206;ENST00000435347	T;T;T	0.45276	0.9;0.9;0.9	5.39	5.39	0.77823	Src homology-3 domain (4);	3.275460	0.01554	N	0.019794	T	0.62356	0.2421	L	0.31476	0.935	0.80722	D	1	D;D	0.89917	0.995;1.0	P;D	0.91635	0.832;0.999	T	0.44251	-0.9340	10	0.72032	D	0.01	.	17.7153	0.88335	0.0:0.0:1.0:0.0	.	160;216	B4DGQ0;Q14847	.;LASP1_HUMAN	T	216;160;216	ENSP00000325240:A216T;ENSP00000401048:A160T;ENSP00000392853:A216T	ENSP00000325240:A216T	A	+	1	0	LASP1	34328417	1.000000	0.71417	0.979000	0.43373	0.989000	0.77384	7.795000	0.85887	2.540000	0.85666	0.462000	0.41574	GCC		0.637	LASP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256890.3	NM_006148		26	69	0	0	0	1	0	26	69					A	37074891	G	A	37074891	3	1	1	1	0	0	0	0	1	0	0	0	8637	1087	38	1	672	1	LASP1	17	37074891	Missense_Mutation	SNP	G	TCGA-2A-A8VL-01A-21D-A377-08	30062811	37074891	44120319	27	27											
INTS2	57508	broad.mit.edu	37	chr17	60003895	60003895	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atccgtaccaaacagggcagAagaagtcttaattctggatc	14	9	9	9	1	2	2	0	0	2	2	4	3	3	3	2	2	2	2	2	2	5	3			TCGA-2A-A8VL-01A-21D-A377-08	TCGA-2A-A8VL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47c9044-6b22-4de5-bb95-8f1114d63b96	58fd9726-f7b9-4e5a-8e51-73a8971a1317	g.chr17:60003895A>C	ENST00000444766.3	-	2	210	c.135T>G	c.(133-135)ctT>ctG	p.L45L	INTS2_ENST00000251334.6_Silent_p.L37L	NM_020748.2	NP_065799	Q9H0H0	INT2_HUMAN	integrator complex subunit 2	45					snRNA processing (GO:0016180)	integral component of membrane (GO:0016021)|integrator complex (GO:0032039)|intracellular (GO:0005622)|membrane (GO:0016020)				NS(1)|breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	38						AACAGGGCAGAAGAAGTCTTA	0.478																																						ENST00000444766.3																			0				NS(1)|breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	38						c.(133-135)ctT>ctG		integrator complex subunit 2							73	68	70					17																	60003895		1925	4141	6066	SO:0001819	synonymous_variant	57508				snRNA processing	integral to membrane|integrator complex|nuclear membrane	protein binding	g.chr17:60003895A>C	AB033113	CCDS45750.1	17q23.2	2006-04-26	2006-03-15	2006-03-15		ENSG00000108506			29241	protein-coding gene	gene with protein product		611346	"KIAA1287"	KIAA1287		16239144	Standard	NR_026641		Approved	INT2	uc002izn.3	Q9H0H0		ENST00000444766.3:c.135T>G	17.37:g.60003895A>C						INTS2_ENST00000251334.6_Silent_p.L37L	p.L45L	NM_020748.2	NP_065799.1	Q9H0H0	INT2_HUMAN			2	210	-			45					Q9ULD3	Silent	SNP	ENST00000444766.3	37	c.135T>G	CCDS45750.1																																																																																				0.478	INTS2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000445368.1	NM_020748		6	14	0	0	0	1	0	6	14					C	60003895	A	C	60003895	2	2	1	1	0	0	0	0	0	0	0	1	7778	233	9	5		5	INTS2	17	60003895	Silent	SNP	A	TCGA-2A-A8VL-01A-21D-A377-08	22929004	60003895	21191315	28	28											
NCOA6	23054	broad.mit.edu	37	chr20	33324502	33324502	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	agtacgccttacctggtctgGcaacagaggcctgcagtgct	8	9	12	12	1	1	1	0	0	1	1	1	1	1	1	3	3	5	4	3	3	3	2			TCGA-2A-A8VL-01A-21D-A377-08	TCGA-2A-A8VL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47c9044-6b22-4de5-bb95-8f1114d63b96	58fd9726-f7b9-4e5a-8e51-73a8971a1317	g.chr20:33324502G>A	ENST00000374796.2	-	13	8524	c.5954C>T	c.(5953-5955)gCc>gTc	p.A1985V	NCOA6_ENST00000359003.2_Missense_Mutation_p.A1985V			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	1985	EP300/CRSP3-binding region.				brain development (GO:0007420)|cellular lipid metabolic process (GO:0044255)|cellular response to DNA damage stimulus (GO:0006974)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA-templated transcription, initiation (GO:0006352)|glucocorticoid receptor signaling pathway (GO:0042921)|heart development (GO:0007507)|intracellular estrogen receptor signaling pathway (GO:0030520)|labyrinthine layer blood vessel development (GO:0060716)|myeloid cell differentiation (GO:0030099)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|response to hormone (GO:0009725)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)	histone methyltransferase complex (GO:0035097)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|estrogen receptor binding (GO:0030331)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						ACCTGGTCTGGCAACAGAGGC	0.453																																						ENST00000374796.2																			0				NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						c.(5953-5955)gCc>gTc		nuclear receptor coactivator 6							94	82	86					20																	33324502		2203	4300	6503	SO:0001583	missense	23054				brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding	g.chr20:33324502G>A	AF128458	CCDS13241.1, CCDS74720.1	20q11	2008-08-01			ENSG00000198646	ENSG00000198646			15936	protein-coding gene	gene with protein product	"nuclear receptor coactivator RAP250", "activating signal cointegrator-2", "peroxisome proliferator-activated receptor interacting protein"	605299				8724849, 8263591	Standard	NM_014071		Approved	KIAA0181, RAP250, ASC2, AIB3, PRIP, TRBP, NRC	uc002xaw.3	Q14686	OTTHUMG00000032311	ENST00000374796.2:c.5954C>T	20.37:g.33324502G>A	ENSP00000363929:p.Ala1985Val					NCOA6_ENST00000359003.2_Missense_Mutation_p.A1985V	p.A1985V			Q14686	NCOA6_HUMAN			13	8524	-			1985			EP300/CRSP3-binding region.		A6NLF1|B2RMN5|E1P5P7|Q9NTZ9|Q9UH74|Q9UK86	Missense_Mutation	SNP	ENST00000374796.2	37	c.5954C>T	CCDS13241.1	.	.	.	.	.	.	.	.	.	.	G	12.99	2.103898	0.37145	.	.	ENSG00000198646	ENST00000374796;ENST00000359003	T;T	0.23552	1.9;1.9	5.82	2.55	0.30701	.	0.679259	0.14001	N	0.348120	T	0.12050	0.0293	N	0.14661	0.345	0.24698	N	0.993273	B	0.02656	0.0	B	0.01281	0.0	T	0.21793	-1.0235	10	0.28530	T	0.3	0.028	3.2011	0.06650	0.0928:0.1318:0.5268:0.2486	.	1985	Q14686	NCOA6_HUMAN	V	1985	ENSP00000363929:A1985V;ENSP00000351894:A1985V	ENSP00000351894:A1985V	A	-	2	0	NCOA6	32788163	1.000000	0.71417	0.995000	0.50966	0.628000	0.37860	1.872000	0.39549	0.791000	0.33826	0.591000	0.81541	GCC		0.453	NCOA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078811.2	NM_014071		3	52	0	0	0	1	0	3	52					A	33324502	G	A	33324502	3	1	1	1	0	0	0	0	1	0	0	0	10233	1203	42	3	253	3	NCOA6	20	33324502	Missense_Mutation	SNP	G	TCGA-2A-A8VL-01A-21D-A377-08		33324502	29701018	29	29											
GGT7	2686	broad.mit.edu	37	chr20	33440316	33440316	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ctgggagtcattgatatggcCccggaggtaggcggcctcca	7	8	15	11	2	1	1	1	1	0	0	2	3	2	3	4	6	0	1	4	6	2	3			TCGA-2A-A8VL-01A-21D-A377-08	TCGA-2A-A8VL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47c9044-6b22-4de5-bb95-8f1114d63b96	58fd9726-f7b9-4e5a-8e51-73a8971a1317	g.chr20:33440316C>A	ENST00000336431.5	-	11	1389	c.1345G>T	c.(1345-1347)Ggc>Tgc	p.G449C	GGT7_ENST00000469018.1_5'Flank	NM_178026.2	NP_821158.2	Q9UJ14	GGT7_HUMAN	gamma-glutamyltransferase 7	449					glutathione biosynthetic process (GO:0006750)|glutathione metabolic process (GO:0006749)|leukotriene biosynthetic process (GO:0019370)	anchored component of external side of plasma membrane (GO:0031362)|integral component of membrane (GO:0016021)	gamma-glutamyltransferase activity (GO:0003840)|glutathione hydrolase activity (GO:0036374)			NS(2)|breast(1)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2)	20						TTGATATGGCCCCGGAGGTAG	0.582																																						ENST00000336431.5																			0				NS(2)|breast(1)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2)	20						c.(1345-1347)Ggc>Tgc		gamma-glutamyltransferase 7							39	43	42					20																	33440316		2203	4300	6503	SO:0001583	missense	2686				glutathione biosynthetic process	integral to membrane	acyltransferase activity|gamma-glutamyltransferase activity	g.chr20:33440316C>A	AL049709	CCDS13242.2	20q11.22	2008-11-24	2008-03-10	2008-03-10	ENSG00000131067	ENSG00000131067		"Gamma-glutamyltransferases"	4259	protein-coding gene	gene with protein product		612342	"gamma-glutamyltransferase-like 3"	GGTL5, GGTL3		8104871, 18357469	Standard	NM_178026		Approved	D20S101, dJ18C9.2	uc002xay.3	Q9UJ14	OTTHUMG00000032314	ENST00000336431.5:c.1345G>T	20.37:g.33440316C>A	ENSP00000338964:p.Gly449Cys						p.G449C	NM_178026.2	NP_821158.2	Q9UJ14	GGT7_HUMAN			11	1389	-			449					Q8N899|Q8NF66|Q9BYP5|Q9BYP6	Missense_Mutation	SNP	ENST00000336431.5	37	c.1345G>T	CCDS13242.2	.	.	.	.	.	.	.	.	.	.	C	25.5	4.645896	0.87958	.	.	ENSG00000131067	ENST00000336431	T	0.06608	3.28	6.17	5.18	0.71444	.	0.112979	0.64402	D	0.000011	T	0.08980	0.0222	N	0.10645	0.015	0.44048	D	0.996786	D;D	0.63880	0.993;0.993	P;P	0.60173	0.815;0.87	T	0.32188	-0.9916	10	0.56958	D	0.05	-25.6616	13.7085	0.62654	0.0:0.7548:0.2452:0.0	.	449;449	A4FU32;Q9UJ14	.;GGT7_HUMAN	C	449	ENSP00000338964:G449C	ENSP00000338964:G449C	G	-	1	0	GGT7	32903977	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.697000	0.47060	2.941000	0.99782	0.655000	0.94253	GGC		0.582	GGT7-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000078816.2	NM_178026		9	48	1	0	2.17888e-05	1	2.26966e-05	9	48					A	33440316	C	A	33440316	3	1	1	1	0	0	0	0	1	0	0	0	6364	623	22	5	663	5	GGT7	20	33440316	Missense_Mutation	SNP	C	TCGA-2A-A8VL-01A-21D-A377-08	115814	33440316	29585204	30	30											
ITIH5L	347365	broad.mit.edu	37	chrX	54783701	54783701	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	atgccagaaccttccaggggGcagagtgggagtaaagggca	12	5	16	8	0	0	2	0	0	0	2	1	3	1	3	3	4	2	3	3	4	3	2			TCGA-2A-A8VL-01A-21D-A377-08	TCGA-2A-A8VL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47c9044-6b22-4de5-bb95-8f1114d63b96	58fd9726-f7b9-4e5a-8e51-73a8971a1317	g.chrX:54783701G>T	ENST00000218436.6	-	8	2835	c.2806C>A	c.(2806-2808)Ccc>Acc	p.P936T		NM_198510.2	NP_940912.1	Q6UXX5	ITIH6_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 6	936	Pro-rich.				hyaluronan metabolic process (GO:0030212)	extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)										CTTCCAGGGGGCAGAGTGGGA	0.562																																						ENST00000218436.6																			0											c.(2806-2808)Ccc>Acc		inter-alpha-trypsin inhibitor heavy chain family, member 6							62	58	59					X																	54783701		2203	4300	6503	SO:0001583	missense	347365				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	g.chrX:54783701G>T	AY358170	CCDS14361.1	Xp11.22-p11.21	2011-10-26	2011-10-26	2011-10-26	ENSG00000102313	ENSG00000102313			28907	protein-coding gene	gene with protein product			"inter-alpha (globulin) inhibitor H5-like"	ITIH5L		12975309	Standard	NM_198510		Approved	UNQ6369	uc004dtj.2	Q6UXX5	OTTHUMG00000021634	ENST00000218436.6:c.2806C>A	X.37:g.54783701G>T	ENSP00000218436:p.Pro936Thr						p.P936T	NM_198510.2	NP_940912.1	Q6UXX5	ITH5L_HUMAN			8	2835	-			936			Pro-rich.		A6NN03	Missense_Mutation	SNP	ENST00000218436.6	37	c.2806C>A	CCDS14361.1	.	.	.	.	.	.	.	.	.	.	G	2.583	-0.296887	0.05532	.	.	ENSG00000102313	ENST00000218436	T	0.03065	4.06	3.88	0.798	0.18660	.	4.604970	0.01130	N	0.005960	T	0.02533	0.0077	N	0.19112	0.55	0.09310	N	1	P	0.37330	0.59	B	0.27262	0.078	T	0.33854	-0.9852	10	0.46703	T	0.11	.	2.3585	0.04301	0.2849:0.0:0.4714:0.2437	.	936	Q6UXX5	ITH5L_HUMAN	T	936	ENSP00000218436:P936T	ENSP00000218436:P936T	P	-	1	0	ITIH5L	54800426	0.338000	0.24775	0.010000	0.14722	0.040000	0.13550	1.737000	0.38197	0.594000	0.29761	0.506000	0.49869	CCC		0.562	ITIH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056814.2	NM_198510		11	13	1	0	0.0692343	1	0.0706473	11	13					T	54783701	G	T	54783701	3	4	1	1	0	0	0	0	1	0	0	0	7908	1203	42	5	1159	5	ITIH5L	23	54783701	Missense_Mutation	SNP	G	TCGA-2A-A8VL-01A-21D-A377-08		54783701	100486859	31	31											
TIE1	7075	broad.mit.edu	37	chr1	43779588	43779588	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cttttaaccctggtgtgcatCcgcagaagctgcctgcatcg	7	11	10	13	2	0	1	0	0	0	1	2	1	1	1	3	1	5	4	3	1	2	2			TCGA-2A-A8VO-01A-11D-A377-08	TCGA-2A-A8VO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea3d3e0f-ff85-4f89-99b5-375033ec614a	10813632-d72a-449d-a4a1-0d0811d48ec5	g.chr1:43779588C>T	ENST00000372476.3	+	14	2437	c.2358C>T	c.(2356-2358)atC>atT	p.I786I	TIE1_ENST00000473014.1_3'UTR|TIE1_ENST00000433781.2_Silent_p.I431I	NM_001253357.1|NM_005424.4	NP_001240286.1|NP_005415.1	P35590	TIE1_HUMAN	tyrosine kinase with immunoglobulin-like and EGF-like domains 1	786					angiogenesis (GO:0001525)|in utero embryonic development (GO:0001701)|mesoderm development (GO:0007498)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell migration (GO:0030336)|peptidyl-tyrosine phosphorylation (GO:0018108)|plasma membrane fusion (GO:0045026)|response to retinoic acid (GO:0032526)|signal transduction (GO:0007165)|vasculogenesis (GO:0001570)	integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	70	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				TGGTGTGCATCCGCAGAAGCT	0.632																																						ENST00000372476.3																			0				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	70						c.(2356-2358)atC>atT		tyrosine kinase with immunoglobulin-like and EGF-like domains 1							77	70	72					1																	43779588		2203	4300	6503	SO:0001819	synonymous_variant	7075				mesoderm development	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity	g.chr1:43779588C>T	BC038239	CCDS482.1	1p34-p33	2013-02-11	2004-12-13	2004-12-14	ENSG00000066056	ENSG00000066056	2.7.10.1	"Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	11809	protein-coding gene	gene with protein product		600222	"tyrosine kinase with immunoglobulin and epidermal growth factor homology domains 1"	TIE		1312667	Standard	NM_005424		Approved	JTK14	uc001ciu.3	P35590	OTTHUMG00000007282	ENST00000372476.3:c.2358C>T	1.37:g.43779588C>T						TIE1_ENST00000473014.1_3'UTR|TIE1_ENST00000433781.2_Silent_p.I431I	p.I786I	NM_001253357.1|NM_005424.4	NP_001240286.1|NP_005415.1	P35590	TIE1_HUMAN			14	2437	+	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)	786					B5A949|B5A950	Silent	SNP	ENST00000372476.3	37	c.2358C>T	CCDS482.1																																																																																				0.632	TIE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019011.1	NM_005424		13	35	0	0	0	1	0	13	35					T	43779588	C	T	43779588	2	4	2	1	0	0	0	0	0	0	0	1	15890	845	30	3		3	TIE1	1	43779588	Silent	SNP	C	TCGA-2A-A8VO-01A-11D-A377-08		43779588	205471033	1	32											
B4GALT2	8704	broad.mit.edu	37	chr1	44446882	44446882	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgcgtctgcaaggctgtgcTccttctctgcctgctgcact	3	12	11	15	2	2	0	0	0	2	0	4	0	3	0	2	1	5	5	2	1	1	1			TCGA-2A-A8VO-01A-11D-A377-08	TCGA-2A-A8VO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea3d3e0f-ff85-4f89-99b5-375033ec614a	10813632-d72a-449d-a4a1-0d0811d48ec5	g.chr1:44446882T>A	ENST00000356836.6	+	2	840	c.50T>A	c.(49-51)cTc>cAc	p.L17H	B4GALT2_ENST00000309519.7_Missense_Mutation_p.L46H|B4GALT2_ENST00000434555.2_5'UTR|B4GALT2_ENST00000372324.1_Missense_Mutation_p.L17H	NM_001005417.2|NM_030587.2	NP_001005417.1|NP_085076.2	O60909	B4GT2_HUMAN	UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 2	17					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity (GO:0003831)|galactosyltransferase activity (GO:0008378)|lactose synthase activity (GO:0004461)|metal ion binding (GO:0046872)|N-acetyllactosamine synthase activity (GO:0003945)			endometrium(4)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)			N-Acetyl-D-glucosamine(DB00141)	AAGGCTGTGCTCCTTCTCTGC	0.682																																						ENST00000356836.6																			0				endometrium(4)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17						c.(49-51)cTc>cAc		UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 2	N-Acetyl-D-glucosamine(DB00141)						88	69	76					1																	44446882		2203	4300	6503	SO:0001583	missense	8704				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|integral to membrane	beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity|lactose synthase activity|metal ion binding|N-acetyllactosamine synthase activity	g.chr1:44446882T>A	AF038660	CCDS506.1, CCDS55596.1	1p34-p33	2013-02-19			ENSG00000117411	ENSG00000117411		"Beta 4-glycosyltransferases"	925	protein-coding gene	gene with protein product		604013				9405390, 9597550	Standard	NM_003780		Approved	beta4Gal-T2	uc010okl.2	O60909	OTTHUMG00000008296	ENST00000356836.6:c.50T>A	1.37:g.44446882T>A	ENSP00000349293:p.Leu17His					B4GALT2_ENST00000372324.1_Missense_Mutation_p.L17H|B4GALT2_ENST00000309519.7_Missense_Mutation_p.L46H|B4GALT2_ENST00000434555.2_5'UTR	p.L17H	NM_001005417.2|NM_030587.2	NP_001005417.1|NP_085076.2	O60909	B4GT2_HUMAN			2	840	+	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)	17					B3KTP0|B4DE14|D3DPY6|D3DPY7|O60511|Q4V9L9|Q5T4X5|Q5T4Y5|Q9BUP6|Q9NSY7	Missense_Mutation	SNP	ENST00000356836.6	37	c.50T>A	CCDS506.1	.	.	.	.	.	.	.	.	.	.	T	32	5.123854	0.94429	.	.	ENSG00000117411	ENST00000372324;ENST00000356836;ENST00000309519	T;T;T	0.52754	0.71;0.71;0.65	4.96	4.96	0.65561	.	0.000000	0.64402	D	0.000007	T	0.57330	0.2046	L	0.29908	0.895	0.80722	D	1	D;D	0.76494	0.999;0.996	D;P	0.85130	0.997;0.819	T	0.62329	-0.6877	10	0.87932	D	0	-26.7008	14.6211	0.68584	0.0:0.0:0.0:1.0	.	46;17	B4DE14;O60909	.;B4GT2_HUMAN	H	17;17;46	ENSP00000361399:L17H;ENSP00000349293:L17H;ENSP00000310696:L46H	ENSP00000310696:L46H	L	+	2	0	B4GALT2	44219469	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.306000	0.78905	1.843000	0.53566	0.533000	0.62120	CTC		0.682	B4GALT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022840.1	NM_003780		15	39	0	0	0	1	0	15	39					A	44446882	T	A	44446882	3	1	2	1	0	0	0	0	1	0	0	0	1271	1551	54	5	52	5	B4GALT2	1	44446882	Missense_Mutation	SNP	T	TCGA-2A-A8VO-01A-11D-A377-08	667294	44446882	204803739	2	33											
GATAD2B	57459	broad.mit.edu	37	chr1	153790536	153790536	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctgtaatgttctcaaattttGaggttcaaccccttgggccc	8	14	8	11	0	2	1	2	1	1	0	3	1	2	1	3	2	1	3	3	2	3	6			TCGA-2A-A8VO-01A-11D-A377-08	TCGA-2A-A8VO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea3d3e0f-ff85-4f89-99b5-375033ec614a	10813632-d72a-449d-a4a1-0d0811d48ec5	g.chr1:153790536G>A	ENST00000368655.4	-	5	952	c.709C>T	c.(709-711)Caa>Taa	p.Q237*		NM_020699.2	NP_065750.1	Q8WXI9	P66B_HUMAN	GATA zinc finger domain containing 2B	237					ATP-dependent chromatin remodeling (GO:0043044)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|protein complex (GO:0043234)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(5)|lung(12)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	38	all_lung(78;1.34e-32)|Lung NSC(65;1.04e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			CTCAAATTTTGAGGTTCAACC	0.493																																						ENST00000368655.4																			0				breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(5)|lung(12)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	38						c.(709-711)Caa>Taa		GATA zinc finger domain containing 2B							149	154	153					1																	153790536		2203	4300	6503	SO:0001587	stop_gained	57459					nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr1:153790536G>A	AF411836	CCDS1054.1	1q21.3	2013-01-25			ENSG00000143614	ENSG00000143614		"GATA zinc finger domain containing"	30778	protein-coding gene	gene with protein product	"transcription repressor p66 beta component of the MeCP1 complex"	614998				10574461, 11756549	Standard	NM_020699		Approved	P66beta	uc001fdb.4	Q8WXI9	OTTHUMG00000037162	ENST00000368655.4:c.709C>T	1.37:g.153790536G>A	ENSP00000357644:p.Gln237*						p.Q237*	NM_020699.2	NP_065750.1	Q8WXI9	P66B_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.151)		5	952	-	all_lung(78;1.34e-32)|Lung NSC(65;1.04e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		237					D3DUZ2|Q5VUR2|Q7LG68|Q9ULS0	Nonsense_Mutation	SNP	ENST00000368655.4	37	c.709C>T	CCDS1054.1	.	.	.	.	.	.	.	.	.	.	G	38	6.694766	0.97768	.	.	ENSG00000143614	ENST00000368655	.	.	.	5.49	5.49	0.81192	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	-13.2028	18.1254	0.89584	0.0:0.0:1.0:0.0	.	.	.	.	X	237	.	ENSP00000357644:Q237X	Q	-	1	0	GATAD2B	152057160	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.276000	0.89894	2.585000	0.87301	0.407000	0.27541	CAA		0.493	GATAD2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090305.1	NM_020699		45	149	0	0	0	1	0	45	149					A	153790536	G	A	153790536	4	1	2	1	0	0	0	0	0	1	0	0	6261	1299	45	3	1100	3	GATAD2B	1	153790536	Nonsense_Mutation	SNP	G	TCGA-2A-A8VO-01A-11D-A377-08	109343654	153790536	95460085	3	34											
HDGF	3068	broad.mit.edu	37	chr1	156714094	156714094	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caccgtcaccctctgcagctTcgggctctggttcaggctct	4	11	10	16	2	5	0	2	0	3	0	6	0	5	0	2	3	2	5	2	3	0	2			TCGA-2A-A8VO-01A-11D-A377-08	TCGA-2A-A8VO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea3d3e0f-ff85-4f89-99b5-375033ec614a	10813632-d72a-449d-a4a1-0d0811d48ec5	g.chr1:156714094T>C	ENST00000357325.5	-	4	664	c.350A>G	c.(349-351)gAa>gGa	p.E117G	HDGF_ENST00000368206.5_Missense_Mutation_p.E133G|HDGF_ENST00000465180.1_5'UTR|HDGF_ENST00000368209.5_Missense_Mutation_p.E110G|HDGF_ENST00000416666.2_Missense_Mutation_p.E85G|HDGF_ENST00000537739.1_Missense_Mutation_p.E117G	NM_004494.2	NP_004485.1	P51858	HDGF_HUMAN	hepatoma-derived growth factor	117	Glu-rich.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cell proliferation (GO:0008283)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein localization to nucleus (GO:0034504)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	DNA binding (GO:0003677)|heparin binding (GO:0008201)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription corepressor activity (GO:0001106)|transcription corepressor binding (GO:0001222)			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)	9	all_hematologic(923;0.088)|Hepatocellular(266;0.158)	Breast(1374;0.198)		Colorectal(1306;0.018)		CTCTGCAGCTTCGGGCTCTGG	0.592																																						ENST00000357325.5																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(6)	9						c.(349-351)gAa>gGa		hepatoma-derived growth factor							390	358	369					1																	156714094		2203	4300	6503	SO:0001583	missense	3068				cell proliferation|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus	DNA binding|growth factor activity|heparin binding|nucleotide binding	g.chr1:156714094T>C	D16431	CCDS1156.1, CCDS44247.1, CCDS44248.1	1q23.1	2013-10-14	2010-03-19		ENSG00000143321	ENSG00000143321			4856	protein-coding gene	gene with protein product	"high-mobility group protein 1-like"	600339	"hepatoma-derived growth factor (high-mobility group protein 1-like)"			8833162	Standard	NM_004494		Approved	HMG1L2	uc001fpy.4	P51858	OTTHUMG00000041295	ENST00000357325.5:c.350A>G	1.37:g.156714094T>C	ENSP00000349878:p.Glu117Gly					HDGF_ENST00000416666.2_Missense_Mutation_p.E85G|HDGF_ENST00000537739.1_Missense_Mutation_p.E117G|HDGF_ENST00000368209.5_Missense_Mutation_p.E110G|HDGF_ENST00000368206.5_Missense_Mutation_p.E133G|HDGF_ENST00000465180.1_5'UTR	p.E117G	NM_004494.2	NP_004485.1	P51858	HDGF_HUMAN		Colorectal(1306;0.018)	4	664	-	all_hematologic(923;0.088)|Hepatocellular(266;0.158)	Breast(1374;0.198)	117			Glu-rich.		B3KU21|D3DVC9|Q5SZ07|Q5SZ08|Q5SZ09	Missense_Mutation	SNP	ENST00000357325.5	37	c.350A>G	CCDS1156.1	.	.	.	.	.	.	.	.	.	.	T	7.818	0.717237	0.15372	.	.	ENSG00000143321	ENST00000357325;ENST00000368209;ENST00000537739;ENST00000416666;ENST00000368206;ENST00000406805	T;T;T;T;T	0.71579	-0.58;-0.58;-0.58;-0.58;-0.58	5.01	5.01	0.66863	.	0.454558	0.20985	U	0.082142	T	0.56247	0.1972	M	0.65498	2.005	0.20764	N	0.999859	B;P;B;B;B	0.49090	0.003;0.919;0.421;0.003;0.029	B;B;B;B;B	0.42692	0.002;0.395;0.154;0.001;0.018	T	0.54029	-0.8354	10	0.37606	T	0.19	-9.3477	12.7088	0.57078	0.0:0.0:0.0:1.0	.	92;117;133;110;117	B7Z958;B2RDE8;Q5SZ07;Q5SZ08;P51858	.;.;.;.;HDGF_HUMAN	G	117;110;117;85;133;140	ENSP00000349878:E117G;ENSP00000357192:E110G;ENSP00000443120:E117G;ENSP00000416752:E85G;ENSP00000357189:E133G	ENSP00000349878:E117G	E	-	2	0	HDGF	154980718	0.941000	0.31946	0.094000	0.20943	0.300000	0.27592	2.885000	0.48570	1.889000	0.54706	0.369000	0.22263	GAA		0.592	HDGF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098946.1	NM_004494		25	372	0	0	0	1	0	25	372					C	156714094	T	C	156714094	3	2	2	1	0	0	0	0	1	0	0	0	7018	1783	62	4	384	4	HDGF	1	156714094	Missense_Mutation	SNP	T	TCGA-2A-A8VO-01A-11D-A377-08	2923558	156714094	92536527	4	35											
FAM5C	339479	broad.mit.edu	37	chr1	190067681	190067681	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccagtctggaaagctgttttCattcacaggcataaaccagc	12	10	8	11	0	3	0	2	0	1	0	3	1	3	1	2	2	3	3	2	2	3	4			TCGA-2A-A8VO-01A-11D-A377-08	TCGA-2A-A8VO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea3d3e0f-ff85-4f89-99b5-375033ec614a	10813632-d72a-449d-a4a1-0d0811d48ec5	g.chr1:190067681C>T	ENST00000367462.3	-	8	1999	c.1768G>A	c.(1768-1770)Gaa>Aaa	p.E590K	BRINP3_ENST00000534846.1_Missense_Mutation_p.E488K	NM_199051.1	NP_950252.1	Q76B58	BRNP3_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 3	590					cell cycle arrest (GO:0007050)|cellular response to retinoic acid (GO:0071300)|negative regulation of mitotic cell cycle (GO:0045930)|positive regulation of neuron differentiation (GO:0045666)	dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)											AAGCTGTTTTCATTCACAGGC	0.458																																						ENST00000367462.3																			0				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2)	164						c.(1768-1770)Gaa>Aaa									144	148	147					1																	190067681		2203	4300	6503	SO:0001583	missense	0					extracellular region		g.chr1:190067681C>T	AB111893	CCDS1373.1	1q31.1	2013-09-18	2013-09-18	2013-09-18	ENSG00000162670	ENSG00000162670			22393	protein-coding gene	gene with protein product			"family with sequence similarity 5, member C"	FAM5C		16018821, 15193423	Standard	NM_199051		Approved	DBCCR1L, DBCCR1L1	uc001gse.1	Q76B58	OTTHUMG00000035533	ENST00000367462.3:c.1768G>A	1.37:g.190067681C>T	ENSP00000356432:p.Glu590Lys					FAM5C_ENST00000484105.1_5'UTR|FAM5C_ENST00000534846.1_Missense_Mutation_p.E488K	p.E590K	NM_199051.1	NP_950252.1	Q76B58	FAM5C_HUMAN			8	1999	-	Prostate(682;0.198)		590					B3KVP1|B7Z260|O95726|Q2M330	Missense_Mutation	SNP	ENST00000367462.3	37	c.1768G>A	CCDS1373.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.335742	0.81801	.	.	ENSG00000162670	ENST00000367462;ENST00000534846	T;T	0.21543	2.27;2.0	5.81	5.81	0.92471	.	0.105213	0.64402	D	0.000005	T	0.46658	0.1404	M	0.66939	2.045	0.80722	D	1	D;D	0.67145	0.996;0.993	D;D	0.73708	0.981;0.956	T	0.36359	-0.9751	10	0.87932	D	0	.	17.5652	0.87918	0.0:1.0:0.0:0.0	.	488;590	B7Z260;Q76B58	.;FAM5C_HUMAN	K	590;488	ENSP00000356432:E590K;ENSP00000438022:E488K	ENSP00000356432:E590K	E	-	1	0	FAM5C	188334304	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.968000	0.56809	2.750000	0.94351	0.585000	0.79938	GAA		0.458	BRINP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086278.1	NM_199051		41	130	0	0	0	1	0	41	130					T	190067681	C	T	190067681	3	4	2	1	0	0	0	0	1	0	0	0	5594	835	29	3	536	3	FAM5C	1	190067681	Missense_Mutation	SNP	C	TCGA-2A-A8VO-01A-11D-A377-08	33353587	190067681	59182940	5	36											
OBSL1	23363	broad.mit.edu	37	chr2	220428291	220428291	+	Frame_Shift_Del	DEL	G	G	-																															caggccagcatgacacactcGgaagttatggcatgcacgaa																								rs146306059	byFrequency	TCGA-2A-A8VO-01A-11D-A377-08	TCGA-2A-A8VO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea3d3e0f-ff85-4f89-99b5-375033ec614a	10813632-d72a-449d-a4a1-0d0811d48ec5	g.chr2:220428291delG	ENST00000404537.1	-	7	2522	c.2466delC	c.(2464-2466)tccfs	p.S822fs	OBSL1_ENST00000265318.4_Frame_Shift_Del_p.S822fs|OBSL1_ENST00000373876.1_Frame_Shift_Del_p.S822fs|OBSL1_ENST00000289656.3_Frame_Shift_Del_p.S409fs|OBSL1_ENST00000603926.1_Frame_Shift_Del_p.S822fs|OBSL1_ENST00000373873.4_Frame_Shift_Del_p.S822fs	NM_015311.2	NP_056126.1	O75147	OBSL1_HUMAN	obscurin-like 1	822	Ig-like 6.				cardiac myofibril assembly (GO:0055003)|cytoskeleton organization (GO:0007010)|Golgi organization (GO:0007030)|microtubule cytoskeleton organization (GO:0000226)|positive regulation of dendrite morphogenesis (GO:0050775)|protein localization to Golgi apparatus (GO:0034067)|regulation of mitosis (GO:0007088)	3M complex (GO:1990393)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|M band (GO:0031430)|perinuclear region of cytoplasm (GO:0048471)|Z disc (GO:0030018)	cytoskeletal adaptor activity (GO:0008093)						Renal(207;0.0376)		Epithelial(149;2.02e-07)|all cancers(144;1.68e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00834)		TGACACACTCGGAAGTTATGG	0.607																																						ENST00000404537.1																			0											c.(2464-2466)tcfs		obscurin-like 1							122	124	123					2																	220428291		2168	4256	6424	SO:0001589	frameshift_variant	23363				cardiac myofibril assembly	intercalated disc|M band|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity	g.chr2:220428291delG	BC007201	CCDS46520.1, CCDS54433.1, CCDS63134.1	2q35	2013-01-29			ENSG00000124006	ENSG00000124006		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	29092	protein-coding gene	gene with protein product		610991				9734811	Standard	NM_015311		Approved	KIAA0657	uc010fwk.3	O75147	OTTHUMG00000059157	ENST00000404537.1:c.2466delC	2.37:g.220428291delG	ENSP00000385636:p.Ser822fs					OBSL1_ENST00000603926.1_Frame_Shift_Del_p.S822fs|OBSL1_ENST00000265318.4_Frame_Shift_Del_p.S822fs|OBSL1_ENST00000373876.1_Frame_Shift_Del_p.S822fs|OBSL1_ENST00000289656.3_Frame_Shift_Del_p.S409fs|OBSL1_ENST00000373873.4_Frame_Shift_Del_p.S822fs	p.S822fs	NM_015311.2	NP_056126.1	O75147	OBSL1_HUMAN		Epithelial(149;2.02e-07)|all cancers(144;1.68e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00834)	7	2522	-		Renal(207;0.0376)	822			Ig-like 6.		A4KVA4|A4KVA5|Q96IW3|S4R3M6	Frame_Shift_Del	DEL	ENST00000404537.1	37	c.2466delC	CCDS46520.1																																																																																				0.607	OBSL1-014	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322012.1			11	107						11	107	---	---	---	---	-	220428291	G	-	220428291	7	5	2	1	0	1	0	1	0	0	0	0	10813	1103	39	0	3436	0	OBSL1	2	220428291	Frame_Shift_Del	DEL	G	TCGA-2A-A8VO-01A-11D-A377-08		220428291	22771082	6	37											
P4HTM	54681	broad.mit.edu	37	chr3	49042345	49042345	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atcgtggagctcagcgagccGctgcaggttgttcgatatgg	7	10	15	9	4	1	0	1	0	0	0	3	3	1	1	1	3	4	5	1	3	1	3			TCGA-2A-A8VO-01A-11D-A377-08	TCGA-2A-A8VO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea3d3e0f-ff85-4f89-99b5-375033ec614a	10813632-d72a-449d-a4a1-0d0811d48ec5	g.chr3:49042345G>A	ENST00000383729.4	+	6	1310	c.939G>A	c.(937-939)ccG>ccA	p.P313P	WDR6_ENST00000608424.1_5'Flank|P4HTM_ENST00000343546.4_Silent_p.P313P|WDR6_ENST00000395474.3_5'Flank|WDR6_ENST00000415265.2_5'Flank|WDR6_ENST00000448293.1_5'Flank	NM_177939.2	NP_808808.1	Q9NXG6	P4HTM_HUMAN	prolyl 4-hydroxylase, transmembrane (endoplasmic reticulum)	313	Fe2OG dioxygenase. {ECO:0000255|PROSITE- ProRule:PRU00805}.					endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)			NS(1)|breast(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	21					Vitamin C(DB00126)	TCAGCGAGCCGCTGCAGGTTG	0.632																																						ENST00000343546.4																			0				NS(1)|breast(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	21						c.(937-939)ccG>ccA		prolyl 4-hydroxylase, transmembrane (endoplasmic reticulum)	Vitamin C(DB00126)						81	73	76					3																	49042345		2203	4300	6503	SO:0001819	synonymous_variant	54681					endoplasmic reticulum membrane|integral to membrane	calcium ion binding|iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr3:49042345G>A		CCDS2781.2, CCDS43089.1	3p21.31	2009-01-14			ENSG00000178467	ENSG00000178467			28858	protein-coding gene	gene with protein product	"Prolyl hydroxlase domain-containing 4", "hypoxia inducible factor prolyl 4 hydroxylase"	614584				12163023, 17726031	Standard	XR_245139		Approved	P4H-TM, PHD4, PH4, HIFPH4, FLJ20262, EGLN4, PH-4	uc003cvh.3	Q9NXG6	OTTHUMG00000074057	ENST00000383729.4:c.939G>A	3.37:g.49042345G>A						P4HTM_ENST00000383729.4_Silent_p.P313P	p.P313P	NM_177938.2	NP_808807.2	Q9NXG6	P4HTM_HUMAN			6	1307	+			313			Fe2OG dioxygenase.		Q6PAG6|Q8TCJ9|Q8WV55|Q96F22|Q9BW77	Silent	SNP	ENST00000383729.4	37	c.939G>A	CCDS43089.1																																																																																				0.632	P4HTM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157211.1	NM_177938		5	43	0	0	0	1	0	5	43					A	49042345	G	A	49042345	2	1	2	1	0	0	0	0	0	0	0	1	11360	1074	38	1		1	P4HTM	3	49042345	Silent	SNP	G	TCGA-2A-A8VO-01A-11D-A377-08		49042345	148980085	7	38											
STXBP5L	9515	broad.mit.edu	37	chr3	120998787	120998787	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccacggtctcctcgaaaaaaCaaacagttcattgcaggtag	14	8	8	11	2	2	0	1	0	1	0	4	1	2	0	2	2	3	3	2	2	5	3			TCGA-2A-A8VO-01A-11D-A377-08	TCGA-2A-A8VO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea3d3e0f-ff85-4f89-99b5-375033ec614a	10813632-d72a-449d-a4a1-0d0811d48ec5	g.chr3:120998787C>A	ENST00000273666.6	+	19	2365	c.2094C>A	c.(2092-2094)aaC>aaA	p.N698K	STXBP5L_ENST00000497029.1_Missense_Mutation_p.N698K|STXBP5L_ENST00000492541.1_Missense_Mutation_p.N698K|STXBP5L_ENST00000471454.1_Missense_Mutation_p.N698K|STXBP5L_ENST00000472879.1_Missense_Mutation_p.N698K	NM_014980.2	NP_055795.1	Q9Y2K9	STB5L_HUMAN	syntaxin binding protein 5-like	698					exocytosis (GO:0006887)|glucose homeostasis (GO:0042593)|negative regulation of insulin secretion (GO:0046676)|positive regulation of protein secretion (GO:0050714)|protein transport (GO:0015031)|regulation of exocytosis (GO:0017157)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				GBM - Glioblastoma multiforme(114;0.0694)		CTCGAAAAAACAAACAGTTCA	0.368																																						ENST00000273666.6																			0				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68						c.(2092-2094)aaC>aaA		syntaxin binding protein 5-like							89	81	84					3																	120998787		1871	4110	5981	SO:0001583	missense	9515				exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane		g.chr3:120998787C>A	AB023223	CCDS43137.1	3q13.33-q21.1	2013-01-10			ENSG00000145087	ENSG00000145087		"WD repeat domain containing"	30757	protein-coding gene	gene with protein product		609381				10231032, 14767561	Standard	NM_014980		Approved	KIAA1006, LLGL4	uc003eec.4	Q9Y2K9	OTTHUMG00000159426	ENST00000273666.6:c.2094C>A	3.37:g.120998787C>A	ENSP00000273666:p.Asn698Lys					STXBP5L_ENST00000472879.1_Missense_Mutation_p.N698K|STXBP5L_ENST00000497029.1_Missense_Mutation_p.N698K|STXBP5L_ENST00000471454.1_Missense_Mutation_p.N698K|STXBP5L_ENST00000492541.1_Missense_Mutation_p.N698K	p.N698K	NM_014980.2	NP_055795.1	Q9Y2K9	STB5L_HUMAN		GBM - Glioblastoma multiforme(114;0.0694)	19	2365	+			698					Q4G1B4|Q6PIC3	Missense_Mutation	SNP	ENST00000273666.6	37	c.2094C>A	CCDS43137.1	.	.	.	.	.	.	.	.	.	.	C	9.837	1.189892	0.21954	.	.	ENSG00000145087	ENST00000273666;ENST00000471454;ENST00000472879;ENST00000497029;ENST00000492541;ENST00000471262	T;T;T;T;T;T	0.35421	1.99;2.0;1.8;1.31;1.79;2.0	5.45	3.59	0.41128	.	0.067218	0.56097	D	0.000032	T	0.26448	0.0646	L	0.33485	1.01	0.49389	D	0.999781	B;B	0.10296	0.002;0.003	B;B	0.08055	0.003;0.003	T	0.03910	-1.0993	10	0.37606	T	0.19	-16.8575	10.2137	0.43156	0.0:0.8302:0.0:0.1698	.	698;698	E9PFI2;Q9Y2K9	.;STB5L_HUMAN	K	698	ENSP00000273666:N698K;ENSP00000420019:N698K;ENSP00000419627:N698K;ENSP00000420287:N698K;ENSP00000420666:N698K;ENSP00000420167:N698K	ENSP00000273666:N698K	N	+	3	2	STXBP5L	122481477	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.203000	0.51075	0.598000	0.29829	0.467000	0.42956	AAC		0.368	STXBP5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355256.3			15	56	1	0	2.31682e-05	1	2.4647e-05	15	56					A	120998787	C	A	120998787	3	1	2	1	0	0	0	0	1	0	0	0	15356	477	17	5	2164	5	STXBP5L	3	120998787	Missense_Mutation	SNP	C	TCGA-2A-A8VO-01A-11D-A377-08	71956442	120998787	77023643	8	39											
MED12L	116931	broad.mit.edu	37	chr3	151075043	151075043	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tggaagctgaactgctcctaAaatcctccagcctggcagga	11	8	10	12	0	0	1	0	1	0	0	3	3	3	3	4	3	4	3	4	3	4	1			TCGA-2A-A8VO-01A-11D-A377-08	TCGA-2A-A8VO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea3d3e0f-ff85-4f89-99b5-375033ec614a	10813632-d72a-449d-a4a1-0d0811d48ec5	g.chr3:151075043A>C	ENST00000474524.1	+	18	2637	c.2599A>C	c.(2599-2601)Aaa>Caa	p.K867Q	MED12L_ENST00000273432.4_Missense_Mutation_p.K727Q|MED12L_ENST00000491549.1_3'UTR|P2RY12_ENST00000302632.3_Intron	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	867						mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)			NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			ACTGCTCCTAAAATCCTCCAG	0.423																																						ENST00000474524.1																			0				NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128						c.(2599-2601)Aaa>Caa		mediator complex subunit 12-like							95	84	88					3																	151075043		2203	4300	6503	SO:0001583	missense	116931				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex		g.chr3:151075043A>C	AB046855, AF388364	CCDS33876.1	3q25.1	2007-07-30	2007-07-30		ENSG00000144893	ENSG00000144893			16050	protein-coding gene	gene with protein product		611318	"mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)-like"			11524702	Standard	XM_006713487		Approved	KIAA1635, TNRC11L, TRALPUSH, TRALP	uc003eyp.3	Q86YW9	OTTHUMG00000159844	ENST00000474524.1:c.2599A>C	3.37:g.151075043A>C	ENSP00000417235:p.Lys867Gln					P2RY12_ENST00000302632.3_Intron|MED12L_ENST00000491549.1_3'UTR|MED12L_ENST00000273432.4_Missense_Mutation_p.K727Q	p.K867Q	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)		18	2637	+			867					Q96PC7|Q96PC8|Q9H9M5|Q9HCD7|Q9UI69	Missense_Mutation	SNP	ENST00000474524.1	37	c.2599A>C	CCDS33876.1	.	.	.	.	.	.	.	.	.	.	A	28.6	4.936818	0.92458	.	.	ENSG00000144893	ENST00000474524;ENST00000273432	D;D	0.82255	-1.59;-1.59	5.3	5.3	0.74995	.	0.000000	0.85682	D	0.000000	D	0.88503	0.6454	L	0.52759	1.655	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.998	D;D;D	0.78314	0.979;0.991;0.987	D	0.89687	0.3895	10	0.87932	D	0	-26.9706	15.2053	0.73175	1.0:0.0:0.0:0.0	.	727;867;867	F8WAE6;Q86YW9-4;Q86YW9	.;.;MD12L_HUMAN	Q	867;727	ENSP00000417235:K867Q;ENSP00000273432:K727Q	ENSP00000273432:K727Q	K	+	1	0	MED12L	152557733	1.000000	0.71417	0.960000	0.40013	0.998000	0.95712	8.291000	0.89927	2.113000	0.64589	0.533000	0.62120	AAA		0.423	MED12L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357707.2	NM_053002		14	71	0	0	0	1	0	14	71					C	151075043	A	C	151075043	3	2	2	1	0	0	0	0	1	0	0	0	9429	15	1	5	2669	5	MED12L	3	151075043	Missense_Mutation	SNP	A	TCGA-2A-A8VO-01A-11D-A377-08	30076256	151075043	46947387	9	40											
TP63	8626	broad.mit.edu	37	chr3	189586471	189586471	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atcagaaagcagcaagtttcGgacagtacaaagaacggtga	17	6	11	7	2	1	3	1	1	0	2	2	4	1	4	0	2	4	4	0	2	5	2			TCGA-2A-A8VO-01A-11D-A377-08	TCGA-2A-A8VO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea3d3e0f-ff85-4f89-99b5-375033ec614a	10813632-d72a-449d-a4a1-0d0811d48ec5	g.chr3:189586471G>A	ENST00000264731.3	+	8	1184	c.1095G>A	c.(1093-1095)tcG>tcA	p.S365S	TP63_ENST00000437221.1_Silent_p.S271S|TP63_ENST00000392463.2_Silent_p.S271S|TP63_ENST00000449992.1_Silent_p.S186S|TP63_ENST00000440651.2_Silent_p.S365S|TP63_ENST00000320472.5_Silent_p.S365S|TP63_ENST00000456148.1_Silent_p.S271S|TP63_ENST00000392461.3_Silent_p.S271S|TP63_ENST00000382063.4_Silent_p.S280S|TP63_ENST00000354600.5_Silent_p.S271S|TP63_ENST00000418709.2_Silent_p.S365S|TP63_ENST00000392460.3_Silent_p.S365S	NM_001114978.1|NM_003722.4	NP_001108450.1|NP_003713.3	Q9H3D4	P63_HUMAN	tumor protein p63	365	Interaction with HIPK2.				apoptotic process (GO:0006915)|cell aging (GO:0007569)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|chromatin remodeling (GO:0006338)|cloacal septation (GO:0060197)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|ectoderm and mesoderm interaction (GO:0007499)|embryonic limb morphogenesis (GO:0030326)|epidermal cell division (GO:0010481)|epithelial cell development (GO:0002064)|establishment of planar polarity (GO:0001736)|establishment of skin barrier (GO:0061436)|female genitalia morphogenesis (GO:0048807)|hair follicle morphogenesis (GO:0031069)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|keratinocyte differentiation (GO:0030216)|keratinocyte proliferation (GO:0043616)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organismal aging (GO:0010259)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular senescence (GO:2000773)|negative regulation of keratinocyte differentiation (GO:0045617)|negative regulation of mesoderm development (GO:2000381)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|odontogenesis of dentin-containing tooth (GO:0042475)|polarized epithelial cell differentiation (GO:0030859)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell cycle G1/S phase transition (GO:1902808)|positive regulation of fibroblast apoptotic process (GO:2000271)|positive regulation of keratinocyte proliferation (GO:0010838)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|post-anal tail morphogenesis (GO:0036342)|prostatic bud formation (GO:0060513)|protein homotetramerization (GO:0051289)|proximal/distal pattern formation (GO:0009954)|regulation of epidermal cell division (GO:0010482)|regulation of neuron apoptotic process (GO:0043523)|response to gamma radiation (GO:0010332)|response to X-ray (GO:0010165)|skeletal system development (GO:0001501)|smooth muscle tissue development (GO:0048745)|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development (GO:0060529)|sympathetic nervous system development (GO:0048485)|urinary bladder development (GO:0060157)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|p53 binding (GO:0002039)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding transcription factor activity (GO:0000989)|transcription regulatory region DNA binding (GO:0044212)|WW domain binding (GO:0050699)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6)	61	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)		AGCAAGTTTCGGACAGTACAA	0.532										HNSCC(45;0.13)																												ENST00000264731.3																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6)	61						c.(1093-1095)tcG>tcA		tumor protein p63							131	123	126					3																	189586471		2203	4300	6503	SO:0001819	synonymous_variant	8626				anti-apoptosis|cellular response to UV|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|Notch signaling pathway|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to gamma radiation|response to X-ray	chromatin|cytosol|dendrite|Golgi apparatus|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr3:189586471G>A	AB010153	CCDS3293.1, CCDS46976.1, CCDS46977.1, CCDS46978.1, CCDS46979.1, CCDS46980.1	3q27-q29	2014-09-17			ENSG00000073282	ENSG00000073282			15979	protein-coding gene	gene with protein product		603273	"tumor protein p73-like", "tumor protein p53-like", "tumor protein p53-competing protein"	TP73L, TP53L, TP53CP		9774969, 9662378, 11181441, 11181451	Standard	NM_003722		Approved	p51, SHFM4, EEC3, p63, p73L, OFC8, KET, p73H, NBP, p53CP	uc003fry.2	Q9H3D4	OTTHUMG00000156313	ENST00000264731.3:c.1095G>A	3.37:g.189586471G>A		HNSCC(45;0.13)				TP63_ENST00000437221.1_Silent_p.S271S|TP63_ENST00000392460.3_Silent_p.S365S|TP63_ENST00000392461.3_Silent_p.S271S|TP63_ENST00000449992.1_Silent_p.S186S|TP63_ENST00000382063.4_Silent_p.S280S|TP63_ENST00000354600.5_Silent_p.S271S|TP63_ENST00000418709.2_Silent_p.S365S|TP63_ENST00000320472.5_Silent_p.S365S|TP63_ENST00000392463.2_Silent_p.S271S|TP63_ENST00000440651.2_Silent_p.S365S|TP63_ENST00000456148.1_Silent_p.S271S	p.S365S	NM_001114978.1|NM_003722.4	NP_001108450.1|NP_003713.3	Q9H3D4	P63_HUMAN	Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)	8	1184	+	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		365			Interaction with HIPK2.		O75080|O75195|O75922|O76078|Q6VEG2|Q6VEG3|Q6VEG4|Q6VFJ1|Q6VFJ2|Q6VFJ3|Q6VH20|Q7LDI3|Q7LDI4|Q7LDI5|Q96KR0|Q9H3D2|Q9H3D3|Q9H3P8|Q9NPH7|Q9P1B4|Q9P1B5|Q9P1B6|Q9P1B7|Q9UBV9|Q9UE10|Q9UP26|Q9UP27|Q9UP28|Q9UP74	Silent	SNP	ENST00000264731.3	37	c.1095G>A	CCDS3293.1																																																																																				0.532	TP63-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000343865.1	NM_003722		14	77	0	0	0	1	0	14	77					A	189586471	G	A	189586471	2	1	2	1	0	0	0	0	0	0	0	1	16389	1103	39	2		2	TP63	3	189586471	Silent	SNP	G	TCGA-2A-A8VO-01A-11D-A377-08	38511428	189586471	8435959	10	41											
LCORL	254251	broad.mit.edu	37	chr4	17910904	17910905	+	Frame_Shift_Del	DEL	TA	TA	-																															tactcaatcgcaaattgacgTatcatctttttcattaattc																										TCGA-2A-A8VO-01A-11D-A377-08	TCGA-2A-A8VO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea3d3e0f-ff85-4f89-99b5-375033ec614a	10813632-d72a-449d-a4a1-0d0811d48ec5	g.chr4:17910904_17910905delTA	ENST00000382226.5	-	5	602_603	c.494_495delTA	c.(493-495)atafs	p.I165fs	LCORL_ENST00000382224.1_Frame_Shift_Del_p.I81fs|LCORL_ENST00000326877.4_Frame_Shift_Del_p.I165fs|LCORL_ENST00000539056.1_Frame_Shift_Del_p.I78fs	NM_001166139.1	NP_001159611.1	Q8N3X6	LCORL_HUMAN	ligand dependent nuclear receptor corepressor-like	165					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)			kidney(1)|large_intestine(1)|lung(1)|prostate(1)	4						CAAATTGACGTATCATCTTTTT	0.312																																						ENST00000382226.5																			0				kidney(1)|large_intestine(1)|lung(1)|prostate(1)	4						c.(493-495)afs		ligand dependent nuclear receptor corepressor-like																																				SO:0001589	frameshift_variant	254251				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr4:17910904_17910905delTA		CCDS3425.1, CCDS54749.1	4p15.32	2006-06-14			ENSG00000178177	ENSG00000178177			30776	protein-coding gene	gene with protein product		611799				12560079	Standard	NM_153686		Approved	MLR1, FLJ30696	uc021xmr.1	Q8N3X6	OTTHUMG00000128538	ENST00000382226.5:c.494_495delTA	4.37:g.17910904_17910905delTA	ENSP00000371661:p.Ile165fs					LCORL_ENST00000382224.1_Frame_Shift_Del_p.I81fs|LCORL_ENST00000326877.3_Frame_Shift_Del_p.I165fs|LCORL_ENST00000539056.1_Frame_Shift_Del_p.I78fs	p.I165fs	NM_001166139.1	NP_001159611.1	Q8N3X6	LCORL_HUMAN			5	602_603	-			165					Q96NK1	Frame_Shift_Del	DEL	ENST00000382226.5	37	c.494_495delTA	CCDS54749.1																																																																																				0.312	LCORL-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_153686		16	57						16	57	---	---	---	---	-	17910905	TA	-	17910904	7	5	2	1	0	1	0	1	0	0	0	0	8690	1628	57	0	1510	0	LCORL	4	17910904	Frame_Shift_Del	DEL	TA	TCGA-2A-A8VO-01A-11D-A377-08		17910904	173243372	11	42											
CEP135	9662	broad.mit.edu	37	chr4	56886920	56886920	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gattatgatgctctgaaaagGcagatctcaactgaaagata	16	10	9	6	0	2	5	1	3	2	2	3	6	2	5	0	1	2	2	0	1	6	2			TCGA-2A-A8VO-01A-11D-A377-08	TCGA-2A-A8VO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea3d3e0f-ff85-4f89-99b5-375033ec614a	10813632-d72a-449d-a4a1-0d0811d48ec5	g.chr4:56886920G>A	ENST00000257287.4	+	24	3418	c.3294G>A	c.(3292-3294)agG>agA	p.R1098R		NM_025009.4	NP_079285.2	Q66GS9	CP135_HUMAN	centrosomal protein 135kDa	1098					centriole replication (GO:0007099)|centriole-centriole cohesion (GO:0010457)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centriole (GO:0005814)|centrosome (GO:0005813)|cytosol (GO:0005829)	protein C-terminus binding (GO:0008022)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(26)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	50	Glioma(25;0.08)|all_neural(26;0.101)					CTCTGAAAAGGCAGATCTCAA	0.323																																						ENST00000257287.4																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(26)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	50						c.(3292-3294)agG>agA		centrosomal protein 135kDa							138	145	143					4																	56886920		2203	4300	6503	SO:0001819	synonymous_variant	9662				centriole replication|centriole-centriole cohesion|G2/M transition of mitotic cell cycle	centriole|cytosol	protein C-terminus binding	g.chr4:56886920G>A	AB014535	CCDS33986.1	4q12	2014-02-20	2005-12-02	2005-12-02	ENSG00000174799	ENSG00000174799			29086	protein-coding gene	gene with protein product		611423	"KIAA0635", "centrosomal protein 4"	KIAA0635, CEP4		9734811, 14654843	Standard	NM_025009		Approved	FLJ13621	uc003hbi.4	Q66GS9	OTTHUMG00000160748	ENST00000257287.4:c.3294G>A	4.37:g.56886920G>A							p.R1098R	NM_025009.4	NP_079285.2	Q66GS9	CP135_HUMAN			24	3418	+	Glioma(25;0.08)|all_neural(26;0.101)		1098					B2RMY0|O75130|Q58F25|Q9H8H7	Silent	SNP	ENST00000257287.4	37	c.3294G>A	CCDS33986.1																																																																																				0.323	CEP135-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362092.2	NM_025009		14	123	0	0	0	1	0	14	123					A	56886920	G	A	56886920	2	1	2	1	0	0	0	0	0	0	0	1	3247	1194	42	3		3	CEP135	4	56886920	Silent	SNP	G	TCGA-2A-A8VO-01A-11D-A377-08	38976016	56886920	134267356	12	43											
KIAA1430	57587	broad.mit.edu	37	chr4	186111652	186111652	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttggtgtagtacttgaaggCtgtgtttctgtcgattttat	6	20	11	4	1	1	1	0	1	1	0	2	2	1	1	0	2	1	4	0	2	4	7			TCGA-2A-A8VO-01A-11D-A377-08	TCGA-2A-A8VO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea3d3e0f-ff85-4f89-99b5-375033ec614a	10813632-d72a-449d-a4a1-0d0811d48ec5	g.chr4:186111652C>T	ENST00000458385.2	-	2	818	c.699G>A	c.(697-699)caG>caA	p.Q233Q	KIAA1430_ENST00000296775.6_Silent_p.Q233Q|KIAA1430_ENST00000514798.1_Silent_p.Q233Q	NM_020827.1	NP_065878.1	Q9P2B7	K1430_HUMAN		233	Ser-rich.									endometrium(3)|kidney(2)|large_intestine(5)|upper_aerodigestive_tract(1)	11		all_lung(41;1.19e-13)|Lung NSC(41;3.16e-13)|Hepatocellular(41;0.00826)|Colorectal(36;0.00872)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.243)		all cancers(43;9.44e-26)|Epithelial(43;2.64e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.66e-11)|Colorectal(24;6.03e-05)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.000331)|COAD - Colon adenocarcinoma(29;0.000427)|STAD - Stomach adenocarcinoma(60;0.000777)|LUSC - Lung squamous cell carcinoma(40;0.00924)|READ - Rectum adenocarcinoma(43;0.165)		TACTTGAAGGCTGTGTTTCTG	0.428																																						ENST00000458385.2																			0				endometrium(3)|kidney(2)|large_intestine(5)|upper_aerodigestive_tract(1)	11						c.(697-699)caG>caA		KIAA1430							155	144	148					4																	186111652		1924	4144	6068	SO:0001819	synonymous_variant	57587							g.chr4:186111652C>T																												ENST00000458385.2:c.699G>A	4.37:g.186111652C>T						KIAA1430_ENST00000514798.1_Silent_p.Q233Q|KIAA1430_ENST00000296775.6_Silent_p.Q233Q	p.Q233Q	NM_020827.1	NP_065878.1	Q9P2B7	K1430_HUMAN		all cancers(43;9.44e-26)|Epithelial(43;2.64e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.66e-11)|Colorectal(24;6.03e-05)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.000331)|COAD - Colon adenocarcinoma(29;0.000427)|STAD - Stomach adenocarcinoma(60;0.000777)|LUSC - Lung squamous cell carcinoma(40;0.00924)|READ - Rectum adenocarcinoma(43;0.165)	2	818	-		all_lung(41;1.19e-13)|Lung NSC(41;3.16e-13)|Hepatocellular(41;0.00826)|Colorectal(36;0.00872)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.243)	233			Ser-rich.		B3KRP7|D3DP60|Q05CU1|Q4W5M4|Q8N6E7|Q9UF45	Silent	SNP	ENST00000458385.2	37	c.699G>A	CCDS47168.1																																																																																				0.428	KIAA1430-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000360717.2			4	39	0	0	0	1	0	4	39					T	186111652	C	T	186111652	2	4	2	1	0	0	0	0	0	0	0	1	8232	796	28	3		3	KIAA1430	4	186111652	Silent	SNP	C	TCGA-2A-A8VO-01A-11D-A377-08	129224732	186111652	5042624	13	44											
CDH9	1007	broad.mit.edu	37	chr5	26906108	26906108	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttgttgttgacatctgtcagCgtgatgttcactgtggtggt	5	17	13	6	1	3	2	2	2	1	0	3	2	3	2	0	2	1	3	0	2	0	4	rs141361996		TCGA-2A-A8VO-01A-11D-A377-08	TCGA-2A-A8VO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea3d3e0f-ff85-4f89-99b5-375033ec614a	10813632-d72a-449d-a4a1-0d0811d48ec5	g.chr5:26906108C>T	ENST00000231021.4	-	5	943	c.771G>A	c.(769-771)acG>acA	p.T257T		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	257	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.T257T(1)		breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						CATCTGTCAGCGTGATGTTCA	0.463																																					Melanoma(8;187 585 15745 40864 52829)	ENST00000231021.4																			1	Substitution - coding silent(1)	p.T257T(1)	breast(1)	breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						c.(769-771)acG>acA		cadherin 9, type 2 (T1-cadherin)		C		1,4405	2.1+/-5.4	0,1,2202	248	226	234		771	-11.2	0.2	5	dbSNP_134	234	0,8600		0,0,4300	no	coding-synonymous	CDH9	NM_016279.3		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		257/790	26906108	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	1007				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:26906108C>T	AB035302	CCDS3893.1	5p14	2010-01-26			ENSG00000113100	ENSG00000113100		"Cadherins / Major cadherins"	1768	protein-coding gene	gene with protein product		609974				2059658	Standard	NM_016279		Approved		uc003jgs.1	Q9ULB4	OTTHUMG00000090671	ENST00000231021.4:c.771G>A	5.37:g.26906108C>T							p.T257T	NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN			5	943	-			257			Cadherin 2.		Q3B7I5	Silent	SNP	ENST00000231021.4	37	c.771G>A	CCDS3893.1																																																																																				0.463	CDH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207352.1	NM_016279		10	95	0	0	0	1	0	10	95					T	26906108	C	T	26906108	2	4	2	1	0	0	0	0	0	0	0	1	3117	755	27	1		1	CDH9	5	26906108	Silent	SNP	C	TCGA-2A-A8VO-01A-11D-A377-08		26906108	154009152	14	45											
ATXN1	6310	broad.mit.edu	37	chr6	16327916	16327918	+	In_Frame_Del	DEL	TGC	TGC	-																															gctgctgctgctgatgctgaTgctgctgctgctgctgctgc																								rs28555263	byFrequency	TCGA-2A-A8VO-01A-11D-A377-08	TCGA-2A-A8VO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea3d3e0f-ff85-4f89-99b5-375033ec614a	10813632-d72a-449d-a4a1-0d0811d48ec5	g.chr6:16327916_16327918delTGC	ENST00000244769.4	-	8	1560_1562	c.624_626delGCA	c.(622-627)cagcat>cat	p.Q208del	ATXN1_ENST00000436367.1_In_Frame_Del_p.Q208del	NM_000332.3	NP_000323.2	P54253	ATX1_HUMAN	ataxin 1	208	Poly-Gln.				adult locomotory behavior (GO:0008344)|cell death (GO:0008219)|negative regulation of insulin-like growth factor receptor signaling pathway (GO:0043569)|negative regulation of phosphorylation (GO:0042326)|negative regulation of transcription, DNA-templated (GO:0045892)|nuclear export (GO:0051168)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|RNA processing (GO:0006396)|transcription, DNA-templated (GO:0006351)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear inclusion body (GO:0042405)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|poly(G) binding (GO:0034046)|poly(U) RNA binding (GO:0008266)|protein C-terminus binding (GO:0008022)|protein self-association (GO:0043621)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|lung(12)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)	44	Breast(50;0.063)|Ovarian(93;0.0733)	all_hematologic(90;0.000682)|Ovarian(999;0.00973)				ctgatgctgatgctgctgctgct	0.665																																						ENST00000244769.4																			0				NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|lung(12)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)	44						c.(622-627)cat>ca		ataxin 1																																				SO:0001651	inframe_deletion	6310				cell death|negative regulation of transcription, DNA-dependent|nuclear export|RNA processing	cytoplasm|nuclear inclusion body|nuclear matrix|nucleoplasm	identical protein binding|poly(G) RNA binding|poly(U) RNA binding|protein binding|protein C-terminus binding|protein self-association	g.chr6:16327916_16327918delTGC	X79204	CCDS34342.1	6p23	2014-09-17	2004-08-12	2004-08-13	ENSG00000124788	ENSG00000124788		"Ataxins"	10548	protein-coding gene	gene with protein product		601556	"spinocerebellar ataxia 1 (olivopontocerebellar ataxia 1, autosomal dominant, ataxin 1)"	SCA1		1582256	Standard	NM_000332		Approved	D6S504E, ATX1	uc010jpi.3	P54253	OTTHUMG00000014303	ENST00000244769.4:c.624_626delGCA	6.37:g.16327925_16327927delTGC	ENSP00000244769:p.Gln208del					ATXN1_ENST00000436367.1_In_Frame_Del_p.QH210del	p.QH210del	NM_000332.3	NP_000323.2	P54253	ATX1_HUMAN			8	1560_1562	-	Breast(50;0.063)|Ovarian(93;0.0733)	all_hematologic(90;0.000682)|Ovarian(999;0.00973)	210			Poly-Gln.		Q17S02|Q9UJG2|Q9Y4J1	In_Frame_Del	DEL	ENST00000244769.4	37	c.624_626delGCA	CCDS34342.1																																																																																				0.665	ATXN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039943.3	NM_000332		4	9						4	9	---	---	---	---	-	16327918	TGC	-	16327916	7	5	2	1	0	1	0	1	0	0	0	0	1209	1464	51	0	1829	0	ATXN1	6	16327916	In_Frame_Del	DEL	TGC	TCGA-2A-A8VO-01A-11D-A377-08		16327916	154787151	15	46											
DNAH11	8701	broad.mit.edu	37	chr7	21840819	21840819	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agcaacagctgagaaagtccGgtgtcaagaagaggtgaacc	15	5	13	8	1	1	4	1	2	0	3	2	5	2	4	2	2	4	2	2	2	5	0	rs369682703		TCGA-2A-A8VO-01A-11D-A377-08	TCGA-2A-A8VO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea3d3e0f-ff85-4f89-99b5-375033ec614a	10813632-d72a-449d-a4a1-0d0811d48ec5	g.chr7:21840819G>A	ENST00000409508.3	+	62	10122	c.10091G>A	c.(10090-10092)cGg>cAg	p.R3364Q	DNAH11_ENST00000328843.6_Missense_Mutation_p.R3371Q	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	3371	Stalk. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						GAGAAAGTCCGGTGTCAAGAA	0.388									Kartagener syndrome																													ENST00000328843.6																			0				NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						c.(10111-10113)cGg>cAg		dynein, axonemal, heavy chain 11		G	GLN/ARG	1,3815		0,1,1907	70	68	69		10113	2.2	0	7		69	0,8242		0,0,4121	no	missense	DNAH11	NM_003777.3	43	0,1,6028	AA,AG,GG		0.0,0.0262,0.0083	benign	3371/4524	21840819	1,12057	1908	4121	6029	SO:0001583	missense	8701	Kartagener syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr7:21840819G>A	U83569	CCDS64602.1	7p21	2008-07-18	2006-09-04					"Axonemal dyneins"	2942	protein-coding gene	gene with protein product	"dynein, ciliary, heavy chain 11", "dynein, heavy chain beta-like"	603339	"dynein, axonemal, heavy polypeptide 11"			9256245	Standard	NM_001277115		Approved	Dnahc11, DPL11, CILD7, DNAHC11, DNAHBL, DNHBL	uc031swp.1	Q96DT5		ENST00000409508.3:c.10091G>A	7.37:g.21840819G>A	ENSP00000475939:p.Arg3364Gln					DNAH11_ENST00000409508.3_Missense_Mutation_p.R3364Q	p.R3371Q			Q96DT5	DYH11_HUMAN			63	10143	+			3371			Stalk (By similarity).		Q9UJ82	Missense_Mutation	SNP	ENST00000409508.3	37	c.10112G>A		.	.	.	.	.	.	.	.	.	.	G	16.60	3.167932	0.57476	2.62E-4	0.0	ENSG00000105877	ENST00000328843	T	0.74632	-0.86	5.93	2.19	0.27852	Dynein heavy chain, coiled coil stalk (1);	0.279051	0.40818	N	0.001019	T	0.62183	0.2407	.	.	.	0.29119	N	0.880376	P	0.34800	0.469	B	0.32583	0.148	T	0.55088	-0.8195	9	0.39692	T	0.17	.	10.471	0.44638	0.2561:0.0:0.7439:0.0	.	3371	Q96DT5	DYH11_HUMAN	Q	3371	ENSP00000330671:R3371Q	ENSP00000330671:R3371Q	R	+	2	0	DNAH11	21807344	0.031000	0.19500	0.019000	0.16419	0.997000	0.91878	1.922000	0.40045	0.128000	0.18479	0.655000	0.94253	CGG		0.388	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000326582.6	NM_003777		4	11	0	0	0	1	0	4	11					A	21840819	G	A	21840819	3	1	2	1	0	0	0	0	1	0	0	0	4599	1116	39	2	10359	2	DNAH11	7	21840819	Missense_Mutation	SNP	G	TCGA-2A-A8VO-01A-11D-A377-08		21840819	137297844	16	47											
TBXAS1	6916	broad.mit.edu	37	chr7	139572059	139572059	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccacatcagcattctcaagaCtggagaagttaggcctcaga	13	8	9	11	0	3	3	3	0	1	3	4	4	3	3	2	2	1	2	2	2	3	2			TCGA-2A-A8VO-01A-11D-A377-08	TCGA-2A-A8VO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea3d3e0f-ff85-4f89-99b5-375033ec614a	10813632-d72a-449d-a4a1-0d0811d48ec5	g.chr7:139572059C>A	ENST00000455353.1	+	2	252	c.115C>A	c.(115-117)Ctg>Atg	p.L39M	TBXAS1_ENST00000436047.2_Missense_Mutation_p.L40M|TBXAS1_ENST00000458722.1_Missense_Mutation_p.L39M|TBXAS1_ENST00000263552.6_Missense_Mutation_p.L40M|TBXAS1_ENST00000539806.1_Missense_Mutation_p.L40M|TBXAS1_ENST00000448866.1_Missense_Mutation_p.L39M|TBXAS1_ENST00000414508.2_Missense_Mutation_p.L40M|TBXAS1_ENST00000425687.1_5'UTR|TBXAS1_ENST00000411653.1_Missense_Mutation_p.L39M|TBXAS1_ENST00000462275.1_Intron|TBXAS1_ENST00000336425.5_Missense_Mutation_p.L39M|TBXAS1_ENST00000416849.2_Missense_Mutation_p.L40M			P24557	THAS_HUMAN	thromboxane A synthase 1 (platelet)	39					arachidonic acid metabolic process (GO:0019369)|cellular chloride ion homeostasis (GO:0030644)|cyclooxygenase pathway (GO:0019371)|icosanoid metabolic process (GO:0006690)|positive regulation of vasoconstriction (GO:0045907)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen (GO:0016705)|thromboxane-A synthase activity (GO:0004796)			breast(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	28	Melanoma(164;0.0142)				Ridogrel(DB01207)|Sulfasalazine(DB00795)	ATTCTCAAGACTGGAGAAGTT	0.443																																						ENST00000263552.6																			0				breast(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	28						c.(118-120)Ctg>Atg		thromboxane A synthase 1 (platelet)							166	146	153					7																	139572059		2203	4300	6503	SO:0001583	missense	6916				hormone biosynthetic process|prostaglandin biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|thromboxane-A synthase activity	g.chr7:139572059C>A	L36085	CCDS5855.1, CCDS5856.1, CCDS55174.1, CCDS55175.1	7q34-q35	2014-09-17	2008-07-31		ENSG00000059377	ENSG00000059377	5.3.99.5	"Cytochrome P450s"	11609	protein-coding gene	gene with protein product	"cytochrome P450, family 5, subfamily A, polypeptide 1"	274180	"thromboxane A synthase 1 (platelet, cytochrome P450, subfamily V)"			1714723, 8964509	Standard	NM_001061		Approved	CYP5, CYP5A1, THAS, TXS, TXAS, TS	uc011kqv.2	P24557	OTTHUMG00000157302	ENST00000455353.1:c.115C>A	7.37:g.139572059C>A	ENSP00000391567:p.Leu39Met					TBXAS1_ENST00000448866.1_Missense_Mutation_p.L39M|TBXAS1_ENST00000455353.1_Missense_Mutation_p.L39M|TBXAS1_ENST00000425687.1_5'UTR|TBXAS1_ENST00000411653.1_Missense_Mutation_p.L39M|TBXAS1_ENST00000436047.2_Missense_Mutation_p.L40M|TBXAS1_ENST00000414508.2_Missense_Mutation_p.L40M|TBXAS1_ENST00000462275.1_Intron|TBXAS1_ENST00000539806.1_Missense_Mutation_p.L40M|TBXAS1_ENST00000416849.2_Missense_Mutation_p.L40M|TBXAS1_ENST00000458722.1_Missense_Mutation_p.L39M|TBXAS1_ENST00000336425.5_Missense_Mutation_p.L39M	p.L40M	NM_001130966.2	NP_001124438.1	P24557	THAS_HUMAN			6	656	+	Melanoma(164;0.0142)		39					B4DJG6|E7EMU9|E7EP08|E7ESB5|O14987|Q16843|Q16844|Q8IUN1|Q96CN2|Q9GZW4|Q9HD77|Q9HD78|Q9HD79|Q9HD80|Q9HD81|Q9HD82|Q9HD83|Q9HD84	Missense_Mutation	SNP	ENST00000455353.1	37	c.118C>A		.	.	.	.	.	.	.	.	.	.	C	17.13	3.311593	0.60414	.	.	ENSG00000059377	ENST00000263552;ENST00000438104;ENST00000336425;ENST00000416849;ENST00000436047;ENST00000414508;ENST00000448866;ENST00000455353;ENST00000458722;ENST00000411653;ENST00000539806	T;T;T;T;T;T;T;T;T;T;T	0.06849	3.25;3.25;3.25;3.25;3.25;3.25;3.25;3.25;3.25;3.25;3.25	4.85	3.03	0.35002	.	0.000000	0.64402	D	0.000004	T	0.13030	0.0316	N	0.19112	0.55	0.41973	D	0.990764	P;D;P;P;P	0.76494	0.945;0.999;0.869;0.858;0.858	P;D;P;P;P	0.68192	0.709;0.956;0.461;0.493;0.493	T	0.04041	-1.0982	10	0.72032	D	0.01	.	8.9005	0.35493	0.0:0.8201:0.0:0.1799	.	40;40;40;40;39	B7Z6W1;E7EP08;E7EMU9;Q53F23;P24557	.;.;.;.;THAS_HUMAN	M	40;39;39;40;40;40;39;39;39;39;40	ENSP00000263552:L40M;ENSP00000388612:L39M;ENSP00000338087:L39M;ENSP00000389414:L40M;ENSP00000392361:L40M;ENSP00000392702:L40M;ENSP00000402536:L39M;ENSP00000391567:L39M;ENSP00000411274:L39M;ENSP00000411326:L39M;ENSP00000444626:L40M	ENSP00000263552:L40M	L	+	1	2	TBXAS1	139218528	0.975000	0.34042	0.963000	0.40424	0.955000	0.61496	2.026000	0.41069	0.568000	0.29311	0.557000	0.71058	CTG		0.443	TBXAS1-008	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000348380.1			39	161	1	0	4.44401e-20	1	5.29049e-20	39	161					A	139572059	C	A	139572059	3	1	2	1	0	0	0	0	1	0	0	0	15661	564	20	5	124	5	TBXAS1	7	139572059	Missense_Mutation	SNP	C	TCGA-2A-A8VO-01A-11D-A377-08	117731240	139572059	19566604	17	48											
BHLHE22	27319	broad.mit.edu	37	chr8	65494021	65494023	+	In_Frame_Del	DEL	GCA	GCA	-																															tagcggtagcggcagcggcgGcagcagcagcagcagcagca																								rs62519837		TCGA-2A-A8VO-01A-11D-A377-08	TCGA-2A-A8VO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea3d3e0f-ff85-4f89-99b5-375033ec614a	10813632-d72a-449d-a4a1-0d0811d48ec5	g.chr8:65494021_65494023delGCA	ENST00000321870.1	+	1	1208_1210	c.674_676delGCA	c.(673-678)ggcagc>ggc	p.S234del	RP11-21C4.1_ENST00000517909.1_RNA	NM_152414.4	NP_689627.1	Q8NFJ8	BHE22_HUMAN	basic helix-loop-helix family, member e22	234	Ser-rich.				anterior commissure morphogenesis (GO:0021960)|cerebral cortex regionalization (GO:0021796)|corpus callosum morphogenesis (GO:0021540)|corticospinal tract morphogenesis (GO:0021957)|negative regulation of transcription, DNA-templated (GO:0045892)|retinal bipolar neuron differentiation (GO:0060040)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)	p.S234delS(1)|p.S226G(1)		NS(1)|central_nervous_system(1)|lung(1)|prostate(1)|skin(1)	5						ggcagcggcggcagcagcagcag	0.709																																					Colon(113;104 1586 2865 9855 18065)	ENST00000321870.1																			2	Substitution - Missense(1)|Deletion - In frame(1)	p.S234delS(1)|p.S226G(1)	central_nervous_system(1)|skin(1)	NS(1)|central_nervous_system(1)|lung(1)|prostate(1)|skin(1)	5						c.(673-678)ggc>g		basic helix-loop-helix family, member e22																																				SO:0001651	inframe_deletion	27319				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chr8:65494021_65494023delGCA	U80755	CCDS6179.1	8q12.1	2009-01-12	2009-01-12	2009-01-12		ENSG00000180828		"Basic helix-loop-helix proteins"	11963	protein-coding gene	gene with protein product		613483	"trinucleotide repeat containing 20", "basic helix-loop-helix domain containing, class B, 5"	TNRC20, BHLHB5		9225980, 12213201, 18557763	Standard	NM_152414		Approved	CAGL85, Beta3, bHLHe22	uc003xvi.3	Q8NFJ8		ENST00000321870.1:c.674_676delGCA	8.37:g.65494030_65494032delGCA	ENSP00000318799:p.Ser234del					RP11-21C4.1_ENST00000517909.1_RNA	p.GS225del	NM_152414.4	NP_689627.1	Q8NFJ8	BHE22_HUMAN			1	1208_1210	+			225			Gly-rich.|Ser-rich.			In_Frame_Del	DEL	ENST00000321870.1	37	c.674_676delGCA	CCDS6179.1																																																																																				0.709	BHLHE22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378549.1	NM_152414		2	4						2	4	---	---	---	---	-	65494023	GCA	-	65494021	7	5	2	1	0	1	0	1	0	0	0	0	1421	1203	42	0	676	0	BHLHE22	8	65494021	In_Frame_Del	DEL	GCA	TCGA-2A-A8VO-01A-11D-A377-08		65494021	80870001	18	49											
GTPBP4	23560	broad.mit.edu	37	chr10	1044996	1044996	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcgttcacaaccaagtctctGtttgttgggcacatggatta	9	13	10	9	1	2	0	1	0	1	0	3	1	2	1	1	2	1	4	1	2	3	4			TCGA-2A-A8VO-01A-11D-A377-08	TCGA-2A-A8VO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea3d3e0f-ff85-4f89-99b5-375033ec614a	10813632-d72a-449d-a4a1-0d0811d48ec5	g.chr10:1044996G>A	ENST00000360803.4	+	6	697	c.615G>A	c.(613-615)ctG>ctA	p.L205L	GTPBP4_ENST00000491635.1_3'UTR|GTPBP4_ENST00000545048.1_Silent_p.L158L|GTPBP4_ENST00000538293.1_Silent_p.L89L	NM_012341.2	NP_036473.2	Q9BZE4	NOG1_HUMAN	GTP binding protein 4	205	OBG-type G. {ECO:0000255|PROSITE- ProRule:PRU01047}.				GTP catabolic process (GO:0006184)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of collagen binding (GO:0033342)|negative regulation of DNA replication (GO:0008156)|negative regulation of protein ubiquitination (GO:0031397)|osteoblast differentiation (GO:0001649)|protein stabilization (GO:0050821)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|ribosome biogenesis (GO:0042254)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)			endometrium(2)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(1)	21		all_epithelial(10;0.107)|Colorectal(49;0.14)	OV - Ovarian serous cystadenocarcinoma(33;0.0814)	Epithelial(11;0.0513)|all cancers(11;0.135)|OV - Ovarian serous cystadenocarcinoma(14;0.173)		CCAAGTCTCTGTTTGTTGGGC	0.413																																						ENST00000360803.4																			0				endometrium(2)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(1)	21						c.(613-615)ctG>ctA		GTP binding protein 4							229	181	197					10																	1044996		2203	4300	6503	SO:0001819	synonymous_variant	23560				negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of cell-cell adhesion|negative regulation of collagen binding|negative regulation of DNA replication|negative regulation of protein ubiquitination|protein stabilization|regulation of cyclin-dependent protein kinase activity|ribosome biogenesis	nucleolus|perinuclear region of cytoplasm	GTP binding|GTPase activity|protein binding	g.chr10:1044996G>A	AK001548	CCDS31132.1	10p15-p14	2007-07-27			ENSG00000107937	ENSG00000107937			21535	protein-coding gene	gene with protein product	"G protein-binding protein CRFG", " GTP-binding protein"					11316846	Standard	NM_012341		Approved	CRFG, NGB, FLJ10690, FLJ10686, NOG1	uc001ift.3	Q9BZE4	OTTHUMG00000017538	ENST00000360803.4:c.615G>A	10.37:g.1044996G>A						GTPBP4_ENST00000545048.1_Silent_p.L158L|GTPBP4_ENST00000538293.1_Silent_p.L89L|GTPBP4_ENST00000491635.1_3'UTR	p.L205L	NM_012341.2	NP_036473.2	Q9BZE4	NOG1_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;0.0814)	Epithelial(11;0.0513)|all cancers(11;0.135)|OV - Ovarian serous cystadenocarcinoma(14;0.173)	6	697	+		all_epithelial(10;0.107)|Colorectal(49;0.14)	205					B3KMC5|B4DY13|B7Z7A3|O95446|Q5T3R8|Q9NVJ8	Silent	SNP	ENST00000360803.4	37	c.615G>A	CCDS31132.1																																																																																				0.413	GTPBP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046412.1	NM_012341		11	26	0	0	0	1	0	11	26					A	1044996	G	A	1044996	2	1	2	1	0	0	0	0	0	0	0	1	6882	1364	48	3		3	GTPBP4	10	1044996	Silent	SNP	G	TCGA-2A-A8VO-01A-11D-A377-08		1044996	134489751	19	50											
ANK3	288	broad.mit.edu	37	chr10	61830119	61830119	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ctgatctgtcaggatgtctgCcttccagtgtgaagaactgg	8	12	12	9	0	3	3	1	2	2	1	4	4	4	4	2	2	2	0	2	2	2	1			TCGA-2A-A8VO-01A-11D-A377-08	TCGA-2A-A8VO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea3d3e0f-ff85-4f89-99b5-375033ec614a	10813632-d72a-449d-a4a1-0d0811d48ec5	g.chr10:61830119C>T	ENST00000280772.2	-	37	10711	c.10520G>A	c.(10519-10521)gGc>gAc	p.G3507D	ANK3_ENST00000355288.2_Intron|ANK3_ENST00000503366.1_Intron|ANK3_ENST00000373827.2_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	3507					axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization (GO:0045184)|Golgi to plasma membrane protein transport (GO:0043001)|maintenance of protein location in plasma membrane (GO:0072660)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|neuromuscular junction development (GO:0007528)|neuronal action potential (GO:0019228)|plasma membrane organization (GO:0007009)|positive regulation of cell communication by electrical coupling (GO:0010650)|positive regulation of gene expression (GO:0010628)|positive regulation of homotypic cell-cell adhesion (GO:0034112)|positive regulation of membrane depolarization during cardiac muscle cell action potential (GO:1900827)|positive regulation of membrane potential (GO:0045838)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein localization to plasma membrane (GO:0072659)|protein targeting to plasma membrane (GO:0072661)|regulation of potassium ion transport (GO:0043266)|signal transduction (GO:0007165)	axon initial segment (GO:0043194)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|costamere (GO:0043034)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|lysosome (GO:0005764)|neuromuscular junction (GO:0031594)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|T-tubule (GO:0030315)|Z disc (GO:0030018)	cadherin binding (GO:0045296)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)	p.G3507V(1)		NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						AGGATGTCTGCCTTCCAGTGT	0.428																																						ENST00000280772.1																			1	Substitution - Missense(1)	p.G3507V(1)	liver(1)	NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						c.(10519-10521)gGc>gAc		ankyrin 3, node of Ranvier (ankyrin G)							89	88	89					10																	61830119		2203	4300	6503	SO:0001583	missense	288				establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding	g.chr10:61830119C>T	U13616	CCDS7258.1, CCDS7259.1, CCDS55711.1, CCDS55712.1	10q21	2013-01-10			ENSG00000151150	ENSG00000151150		"Ankyrin repeat domain containing"	494	protein-coding gene	gene with protein product	"ankyrin-3, node of Ranvier", "ankyrin-G"	600465				7665168	Standard	NM_020987		Approved		uc001jky.3	Q12955	OTTHUMG00000018288	ENST00000280772.2:c.10520G>A	10.37:g.61830119C>T	ENSP00000280772:p.Gly3507Asp					ANK3_ENST00000355288.2_Intron|ANK3_ENST00000373827.2_Intron|ANK3_ENST00000503366.1_Intron	p.G3507D	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN			37	10711	-			3507					B1AQT2|B4DIL1|E9PE32|Q13484|Q5CZH9|Q5VXD5|Q7Z3G4|Q9H0P5	Missense_Mutation	SNP	ENST00000280772.2	37	c.10520G>A	CCDS7258.1	.	.	.	.	.	.	.	.	.	.	C	19.22	3.785682	0.70337	.	.	ENSG00000151150	ENST00000280772	T	0.26223	1.75	5.77	5.77	0.91146	.	0.000000	0.42964	D	0.000623	T	0.47229	0.1434	L	0.46157	1.445	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.14337	-1.0476	10	0.40728	T	0.16	.	19.9837	0.97340	0.0:1.0:0.0:0.0	.	3507	Q12955	ANK3_HUMAN	D	3507	ENSP00000280772:G3507D	ENSP00000280772:G3507D	G	-	2	0	ANK3	61500125	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	4.631000	0.61304	2.723000	0.93209	0.655000	0.94253	GGC		0.428	ANK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048201.4	NM_020987		21	97	0	0	0	1	0	21	97					T	61830119	C	T	61830119	3	4	2	1	0	0	0	0	1	0	0	0	622	739	26	3	2954	3	ANK3	10	61830119	Missense_Mutation	SNP	C	TCGA-2A-A8VO-01A-11D-A377-08	60785123	61830119	73704628	20	51											
C10orf90	118611	broad.mit.edu	37	chr10	128114440	128114440	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gggcagcctgtggttagaccGcattcctttgaaggagctgg	7	10	15	9	1	0	2	0	1	0	1	1	3	1	3	3	4	2	4	3	4	2	3			TCGA-2A-A8VO-01A-11D-A377-08	TCGA-2A-A8VO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea3d3e0f-ff85-4f89-99b5-375033ec614a	10813632-d72a-449d-a4a1-0d0811d48ec5	g.chr10:128114440G>A	ENST00000284694.7	-	9	2213	c.2093C>T	c.(2092-2094)gCg>gTg	p.A698V	C10orf90_ENST00000480379.1_Missense_Mutation_p.A102V|C10orf90_ENST00000544758.1_Missense_Mutation_p.A795V|C10orf90_ENST00000454341.1_Missense_Mutation_p.A601V|C10orf90_ENST00000356858.3_3'UTR	NM_001004298.2	NP_001004298.2	Q96M02	CJ090_HUMAN	chromosome 10 open reading frame 90	698	ALMS motif. {ECO:0000250}.				mitotic G2 DNA damage checkpoint (GO:0007095)|negative regulation of cell growth (GO:0030308)|protein stabilization (GO:0050821)|response to ionizing radiation (GO:0010212)|response to UV (GO:0009411)	actin cytoskeleton (GO:0015629)|centrosome (GO:0005813)|cytoplasm (GO:0005737)		p.A698V(1)		NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(19)|liver(1)|lung(29)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	65		all_epithelial(44;4.51e-05)|all_lung(145;0.0068)|Lung NSC(174;0.0105)|Colorectal(57;0.0848)|all_neural(114;0.0936)|Breast(234;0.203)		COAD - Colon adenocarcinoma(40;0.0442)|Colorectal(40;0.0479)		TGGTTAGACCGCATTCCTTTG	0.483																																						ENST00000284694.7																			1	Substitution - Missense(1)	p.A698V(1)	prostate(1)	NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(19)|liver(1)|lung(29)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	65						c.(2092-2094)gCg>gTg		chromosome 10 open reading frame 90							105	98	100					10																	128114440		2203	4300	6503	SO:0001583	missense	118611							g.chr10:128114440G>A	BC034828	CCDS31310.1	10q26.2	2012-05-31			ENSG00000154493	ENSG00000154493			26563	protein-coding gene	gene with protein product	"fragile-site associated tumor suppressor"					20843368, 20154723	Standard	NM_001004298		Approved	FLJ32938, bA422P15.2, FATS	uc001ljq.3	Q96M02	OTTHUMG00000019245	ENST00000284694.7:c.2093C>T	10.37:g.128114440G>A	ENSP00000284694:p.Ala698Val					C10orf90_ENST00000544758.1_Missense_Mutation_p.A795V|C10orf90_ENST00000480379.1_Missense_Mutation_p.A102V|C10orf90_ENST00000356858.3_3'UTR|C10orf90_ENST00000454341.1_Missense_Mutation_p.A601V	p.A698V	NM_001004298.2	NP_001004298.2	Q96M02	CJ090_HUMAN		COAD - Colon adenocarcinoma(40;0.0442)|Colorectal(40;0.0479)	9	2213	-		all_epithelial(44;4.51e-05)|all_lung(145;0.0068)|Lung NSC(174;0.0105)|Colorectal(57;0.0848)|all_neural(114;0.0936)|Breast(234;0.203)	698					B9EIQ9|Q5JRP6|Q5T023|Q8NCV5|Q8WU75	Missense_Mutation	SNP	ENST00000284694.7	37	c.2093C>T	CCDS31310.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	23.3|23.3	4.398313|4.398313	0.83120|0.83120	.|.	.|.	ENSG00000154493|ENSG00000154493	ENST00000356858;ENST00000284694;ENST00000454341;ENST00000544758|ENST00000424927	T;T;T|.	0.22134|.	1.97;2.06;1.98|.	5.58|5.58	4.63|4.63	0.57726|0.57726	.|.	0.000000|.	0.43919|.	D|.	0.000505|.	T|T	0.37812|0.37812	0.1017|0.1017	N|N	0.08118|0.08118	0|0	0.38199|0.38199	D|D	0.94014|0.94014	D;D;D|.	0.69078|.	0.997;0.996;0.99|.	P;P;P|.	0.55508|.	0.766;0.777;0.665|.	T|T	0.30446|0.30446	-0.9978|-0.9978	10|5	0.52906|.	T|.	0.07|.	-21.9319|-21.9319	13.9111|13.9111	0.63866|0.63866	0.0:0.0:0.8492:0.1508|0.0:0.0:0.8492:0.1508	.|.	795;698;601|.	F5GZL2;Q96M02;Q96M02-2|.	.;CJ090_HUMAN;.|.	V|W	651;698;601;795|241	ENSP00000284694:A698V;ENSP00000398786:A601V;ENSP00000444369:A795V|.	ENSP00000284694:A698V|.	A|R	-|-	2|1	0|2	C10orf90|C10orf90	128104430|128104430	0.993000|0.993000	0.37304|0.37304	0.072000|0.072000	0.20136|0.20136	0.343000|0.343000	0.28985|0.28985	4.314000|4.314000	0.59166|0.59166	2.782000|2.782000	0.95742|0.95742	0.655000|0.655000	0.94253|0.94253	GCG|CGG		0.483	C10orf90-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001004298		3	36	0	0	0	1	0	3	36					A	128114440	G	A	128114440	3	1	2	1	0	0	0	0	1	0	0	0	1623	1087	38	1	10	1	C10orf90	10	128114440	Missense_Mutation	SNP	G	TCGA-2A-A8VO-01A-11D-A377-08	66284321	128114440	7420307	21	52											
DCHS1	8642	broad.mit.edu	37	chr11	6662544	6662544	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caagacacgggctgtacggaCgaccccactgtgttcgtcaa	10	7	11	13	4	1	1	1	0	0	1	2	3	1	2	2	2	1	3	2	2	3	2			TCGA-2A-A8VO-01A-11D-A377-08	TCGA-2A-A8VO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea3d3e0f-ff85-4f89-99b5-375033ec614a	10813632-d72a-449d-a4a1-0d0811d48ec5	g.chr11:6662544C>T	ENST00000299441.3	-	2	712	c.301G>A	c.(301-303)Gtc>Atc	p.V101I		NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	101	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|calcium-dependent cell-cell adhesion (GO:0016339)|cochlea development (GO:0090102)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|neural tube development (GO:0021915)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|post-anal tail morphogenesis (GO:0036342)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GCTGTACGGACGACCCCACTG	0.622																																						ENST00000299441.3																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103						c.(301-303)Gtc>Atc		dachsous cadherin-related 1							67	58	61					11																	6662544		2201	4296	6497	SO:0001583	missense	8642				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr11:6662544C>T	AB000895	CCDS7771.1	11p15.4	2013-10-04	2013-10-04	2004-09-03	ENSG00000166341	ENSG00000166341		"Cadherins / Cadherin-related"	13681	protein-coding gene	gene with protein product	"cadherin-related family member 6"	603057	"protocadherin 16", "dachsous 1 (Drosophila)"	CDH25, PCDH16		9199196	Standard	XM_005253207		Approved	FIB1, KIAA1773, FLJ11790, CDHR6	uc001mem.1	Q96JQ0	OTTHUMG00000133398	ENST00000299441.3:c.301G>A	11.37:g.6662544C>T	ENSP00000299441:p.Val101Ile						p.V101I	NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	2	712	-		Medulloblastoma(188;0.00263)|all_neural(188;0.026)	101			Cadherin 1.		O15098	Missense_Mutation	SNP	ENST00000299441.3	37	c.301G>A	CCDS7771.1	.	.	.	.	.	.	.	.	.	.	C	3.292	-0.144722	0.06627	.	.	ENSG00000166341	ENST00000299441	T	0.31247	1.5	5.41	5.41	0.78517	Cadherin (4);Cadherin-like (1);	0.000000	0.42053	D	0.000769	T	0.11707	0.0285	N	0.00869	-1.13	0.33880	D	0.636014	P	0.45957	0.869	P	0.49829	0.623	T	0.33979	-0.9847	10	0.02654	T	1	.	7.9456	0.29985	0.0:0.8243:0.0:0.1757	.	101	Q96JQ0	PCD16_HUMAN	I	101	ENSP00000299441:V101I	ENSP00000299441:V101I	V	-	1	0	DCHS1	6619120	1.000000	0.71417	0.998000	0.56505	0.947000	0.59692	3.211000	0.51137	2.536000	0.85505	0.643000	0.83706	GTC		0.622	DCHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257258.1	NM_003737		8	40	0	0	0	1	0	8	40					T	6662544	C	T	6662544	3	4	2	1	0	0	0	0	1	0	0	0	4287	536	19	1	9675	1	DCHS1	11	6662544	Missense_Mutation	SNP	C	TCGA-2A-A8VO-01A-11D-A377-08		6662544	128343972	22	53											
CCDC87	55231	broad.mit.edu	37	chr11	66359398	66359398	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cgagtcccctccaacttcatCttctttatcaactgcttcag	8	14	4	15	1	5	0	3	0	2	0	7	1	7	0	3	0	3	1	3	0	3	5	rs142496256		TCGA-2A-A8VO-01A-11D-A377-08	TCGA-2A-A8VO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea3d3e0f-ff85-4f89-99b5-375033ec614a	10813632-d72a-449d-a4a1-0d0811d48ec5	g.chr11:66359398C>G	ENST00000333861.3	-	1	1156	c.1089G>C	c.(1087-1089)aaG>aaC	p.K363N	CCS_ENST00000310190.4_5'Flank|CCS_ENST00000533244.1_5'Flank	NM_018219.2	NP_060689.2	Q9NVE4	CCD87_HUMAN	coiled-coil domain containing 87	363					cytokinesis (GO:0000910)|microtubule cytoskeleton organization (GO:0000226)					central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						CCAACTTCATCTTCTTTATCA	0.597																																						ENST00000333861.3																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						c.(1087-1089)aaG>aaC		coiled-coil domain containing 87							51	55	54					11																	66359398		2200	4295	6495	SO:0001583	missense	55231							g.chr11:66359398C>G	BC034469	CCDS8145.1	11q13.2	2006-03-15			ENSG00000182791	ENSG00000182791			25579	protein-coding gene	gene with protein product						12477932	Standard	NM_018219		Approved	FLJ10786	uc001oiq.4	Q9NVE4	OTTHUMG00000167237	ENST00000333861.3:c.1089G>C	11.37:g.66359398C>G	ENSP00000328487:p.Lys363Asn						p.K363N	NM_018219.2	NP_060689.2	Q9NVE4	CCD87_HUMAN			1	1156	-			363					Q8NE76	Missense_Mutation	SNP	ENST00000333861.3	37	c.1089G>C	CCDS8145.1	.	.	.	.	.	.	.	.	.	.	C	0.009	-1.840087	0.00573	.	.	ENSG00000182791	ENST00000333861	T	0.29917	1.55	5.03	-2.33	0.06724	.	1.397050	0.04801	N	0.433398	T	0.06962	0.0177	N	0.00347	-1.61	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.18808	-1.0325	10	0.15066	T	0.55	.	3.6258	0.08112	0.0805:0.3663:0.2453:0.3079	.	363	Q9NVE4	CCD87_HUMAN	N	363	ENSP00000328487:K363N	ENSP00000328487:K363N	K	-	3	2	CCDC87	66115974	0.000000	0.05858	0.022000	0.16811	0.115000	0.19883	-0.276000	0.08514	-0.611000	0.05709	-0.256000	0.11100	AAG		0.597	CCDC87-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393825.1	NM_018219		7	33	0	0	0	1	0	7	33					G	66359398	C	G	66359398	3	3	2	1	0	0	0	0	1	0	0	0	2862	912	32	5	1464	5	CCDC87	11	66359398	Missense_Mutation	SNP	C	TCGA-2A-A8VO-01A-11D-A377-08	59696854	66359398	68647118	23	54											
ANKK1	255239	broad.mit.edu	37	chr11	113270738	113270738	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcaacctcctagaacatcacGcaaatgtccacgcccgcaac	13	6	5	17	3	2	1	2	0	0	1	4	1	4	1	4	0	3	2	4	0	5	1			TCGA-2A-A8VO-01A-11D-A377-08	TCGA-2A-A8VO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea3d3e0f-ff85-4f89-99b5-375033ec614a	10813632-d72a-449d-a4a1-0d0811d48ec5	g.chr11:113270738G>T	ENST00000303941.3	+	8	2141	c.2047G>T	c.(2047-2049)Gca>Tca	p.A683S		NM_178510.1	NP_848605.1	Q8NFD2	ANKK1_HUMAN	ankyrin repeat and kinase domain containing 1	683							ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(14)|ovary(1)|stomach(1)	29		all_cancers(61;1.53e-11)|all_epithelial(67;3e-06)|Melanoma(852;4.04e-05)|all_hematologic(158;0.000315)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0461)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Prostate(24;0.194)		BRCA - Breast invasive adenocarcinoma(274;4.82e-06)|Epithelial(105;5.41e-05)|all cancers(92;0.000442)|OV - Ovarian serous cystadenocarcinoma(223;0.238)		AGAACATCACGCAAATGTCCA	0.632																																						ENST00000303941.3																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(14)|ovary(1)|stomach(1)	29						c.(2047-2049)Gca>Tca		ankyrin repeat and kinase domain containing 1							62	69	66					11																	113270738		2067	4198	6265	SO:0001583	missense	255239						ATP binding|protein serine/threonine kinase activity	g.chr11:113270738G>T	AJ541797	CCDS44734.1	11q23.2	2013-01-10			ENSG00000170209	ENSG00000170209		"Ankyrin repeat domain containing"	21027	protein-coding gene	gene with protein product		608774				15146457	Standard	NM_178510		Approved	X-kinase	uc001pny.3	Q8NFD2	OTTHUMG00000167715	ENST00000303941.3:c.2047G>T	11.37:g.113270738G>T	ENSP00000306678:p.Ala683Ser						p.A683S	NM_178510.1	NP_848605.1	Q8NFD2	ANKK1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.82e-06)|Epithelial(105;5.41e-05)|all cancers(92;0.000442)|OV - Ovarian serous cystadenocarcinoma(223;0.238)	8	2141	+		all_cancers(61;1.53e-11)|all_epithelial(67;3e-06)|Melanoma(852;4.04e-05)|all_hematologic(158;0.000315)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0461)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Prostate(24;0.194)	683						Missense_Mutation	SNP	ENST00000303941.3	37	c.2047G>T	CCDS44734.1	.	.	.	.	.	.	.	.	.	.	G	10.31	1.315509	0.23908	.	.	ENSG00000170209	ENST00000303941	T	0.25414	1.8	4.53	2.66	0.31614	Ankyrin repeat-containing domain (4);	0.103393	0.40908	D	0.000990	T	0.51702	0.1690	M	0.80616	2.505	0.26601	N	0.973014	B	0.32283	0.362	P	0.59012	0.85	T	0.51639	-0.8680	10	0.72032	D	0.01	-3.745	9.6143	0.39681	0.1699:0.0:0.8301:0.0	.	683	Q8NFD2	ANKK1_HUMAN	S	683	ENSP00000306678:A683S	ENSP00000306678:A683S	A	+	1	0	ANKK1	112775948	0.967000	0.33354	0.001000	0.08648	0.001000	0.01503	3.335000	0.52105	0.542000	0.28846	0.514000	0.50259	GCA		0.632	ANKK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395830.1	NM_178510		8	47	1	0	1.06961e-07	1	1.16262e-07	8	47					T	113270738	G	T	113270738	3	4	2	1	0	0	0	0	1	0	0	0	631	1087	38	5	2077	5	ANKK1	11	113270738	Missense_Mutation	SNP	G	TCGA-2A-A8VO-01A-11D-A377-08	46911340	113270738	21735778	24	55											
GRIN2B	2904	broad.mit.edu	37	chr12	13717134	13717134	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgctgatggacctggactggGtggtgaagggtgggttgtca	6	11	19	5	0	1	2	1	2	0	0	1	4	1	4	1	6	1	2	1	6	1	1	rs202109019		TCGA-2A-A8VO-01A-11D-A377-08	TCGA-2A-A8VO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea3d3e0f-ff85-4f89-99b5-375033ec614a	10813632-d72a-449d-a4a1-0d0811d48ec5	g.chr12:13717134G>A	ENST00000609686.1	-	13	3247	c.3038C>T	c.(3037-3039)aCc>aTc	p.T1013I		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	1013					behavioral fear response (GO:0001662)|behavioral response to pain (GO:0048266)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|glutamate receptor signaling pathway (GO:0007215)|in utero embryonic development (GO:0001701)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning (GO:0007612)|learning or memory (GO:0007611)|memory (GO:0007613)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of synaptic plasticity (GO:0048167)|response to ethanol (GO:0045471)|sensory organ development (GO:0007423)|startle response (GO:0001964)|suckling behavior (GO:0001967)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Haloperidol(DB00502)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	CCTGGACTGGGTGGTGAAGGG	0.577																																						ENST00000279593.3																			0				NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143						c.(3037-3039)aCc>aTc		glutamate receptor, ionotropic, N-methyl D-aspartate 2B	Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)						116	90	99					12																	13717134		2203	4300	6503	SO:0001583	missense	2904				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	g.chr12:13717134G>A		CCDS8662.1	12p13.1	2014-07-16			ENSG00000273079			"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4586	protein-coding gene	gene with protein product		138252		NMDAR2B		1350383	Standard	NM_000834		Approved	GluN2B	uc001rbt.2	Q13224	OTTHUMG00000137373	ENST00000609686.1:c.3038C>T	12.37:g.13717134G>A	ENSP00000477455:p.Thr1013Ile						p.T1013I	NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN			13	3247	-			1013					Q12919|Q13220|Q13225|Q14CU4|Q9UM56	Missense_Mutation	SNP	ENST00000609686.1	37	c.3038C>T	CCDS8662.1	.	.	.	.	.	.	.	.	.	.	G	15.02	2.708117	0.48412	.	.	ENSG00000150086	ENST00000279593	T	0.12147	2.71	5.5	5.5	0.81552	Glutamate [NMDA] receptor, epsilon subunit, C-terminal (1);	0.108992	0.64402	D	0.000006	T	0.20659	0.0497	L	0.50333	1.59	0.58432	D	0.999999	B	0.29590	0.25	B	0.35813	0.211	T	0.01961	-1.1239	10	0.56958	D	0.05	.	19.39	0.94576	0.0:0.0:1.0:0.0	.	1013	Q13224	NMDE2_HUMAN	I	1013	ENSP00000279593:T1013I	ENSP00000279593:T1013I	T	-	2	0	GRIN2B	13608401	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	9.789000	0.99068	2.596000	0.87737	0.655000	0.94253	ACC		0.577	GRIN2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268014.2			14	29	0	0	0	1	0	14	29					A	13717134	G	A	13717134	3	1	2	1	0	0	0	0	1	0	0	0	6780	1261	44	3	1420	3	GRIN2B	12	13717134	Missense_Mutation	SNP	G	TCGA-2A-A8VO-01A-11D-A377-08		13717134	120134761	25	56											
AQP5	362	broad.mit.edu	37	chr12	50357351	50357360	+	Frame_Shift_Del	DEL	TCGCCTCCAC	TCGCCTCCAC	-																															ccagctggcactctgcatctTcgcctccactgactcccgcc																										TCGA-2A-A8VO-01A-11D-A377-08	TCGA-2A-A8VO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea3d3e0f-ff85-4f89-99b5-375033ec614a	10813632-d72a-449d-a4a1-0d0811d48ec5	g.chr12:50357351_50357360delTCGCCTCCAC	ENST00000293599.6	+	2	588_597	c.440_449delTCGCCTCCAC	c.(439-450)ttcgcctccactfs	p.FAST147fs	RP11-469H8.6_ENST00000552379.1_RNA|RP11-469H8.6_ENST00000550530.1_RNA|RP11-469H8.6_ENST00000550214.1_RNA	NM_001651.2	NP_001642.1	P55064	AQP5_HUMAN	aquaporin 5	147					camera-type eye morphogenesis (GO:0048593)|carbon dioxide transport (GO:0015670)|excretion (GO:0007588)|odontogenesis (GO:0042476)|pancreatic juice secretion (GO:0030157)|saliva secretion (GO:0046541)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	water channel activity (GO:0015250)			large_intestine(1)|lung(3)	4						CTCTGCATCTTCGCCTCCACTGACTCCCGC	0.619																																						ENST00000293599.6																			0				large_intestine(1)|lung(3)	4						c.(439-450)ttfs		aquaporin 5																																				SO:0001589	frameshift_variant	362				carbon dioxide transport|excretion|odontogenesis|pancreatic juice secretion	apical plasma membrane|integral to plasma membrane	protein binding|water channel activity	g.chr12:50357351_50357360delTCGCCTCCAC	U46569	CCDS8793.1	12q13	2013-09-10				ENSG00000161798		"Ion channels / Aquaporins"	638	protein-coding gene	gene with protein product		600442				8621489, 23830519	Standard	NM_001651		Approved		uc001rvo.3	P55064	OTTHUMG00000169710	ENST00000293599.6:c.440_449delTCGCCTCCAC	12.37:g.50357351_50357360delTCGCCTCCAC	ENSP00000293599:p.Phe147fs						p.FAST147fs	NM_001651.2	NP_001642.1	P55064	AQP5_HUMAN			2	588_597	+			147					Q6FGW8	Frame_Shift_Del	DEL	ENST00000293599.6	37	c.440_449delTCGCCTCCAC	CCDS8793.1																																																																																				0.619	AQP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405542.2	NM_001651		10	58						10	58	---	---	---	---	-	50357360	TCGCCTCCAC	-	50357351	7	5	2	1	0	1	0	1	0	0	0	0	829	1783	62	0	446	0	AQP5	12	50357351	Frame_Shift_Del	DEL	TCGCCTCCAC	TCGA-2A-A8VO-01A-11D-A377-08	36640217	50357351	83494544	26	57											
ERBB3	2065	broad.mit.edu	37	chr12	56481841	56481841	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	atgacagtggagcctgtgtaCctcgctgtccacagcctctt	7	11	10	13	1	1	1	0	1	1	0	3	2	2	2	4	1	3	2	4	1	1	2			TCGA-2A-A8VO-01A-11D-A377-08	TCGA-2A-A8VO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea3d3e0f-ff85-4f89-99b5-375033ec614a	10813632-d72a-449d-a4a1-0d0811d48ec5	g.chr12:56481841C>T	ENST00000267101.3	+	7	1209	c.769C>T	c.(769-771)Cct>Tct	p.P257S	ERBB3_ENST00000415288.2_Missense_Mutation_p.P198S|ERBB3_ENST00000450146.2_Intron	NM_001982.3	NP_001973.2	P21860	ERBB3_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3	257					cranial nerve development (GO:0021545)|endocardial cushion development (GO:0003197)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|negative regulation of cell adhesion (GO:0007162)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of secretion (GO:0051048)|negative regulation of signal transduction (GO:0009968)|neuron apoptotic process (GO:0051402)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein tyrosine kinase activity (GO:0061098)|regulation of cell proliferation (GO:0042127)|Schwann cell differentiation (GO:0014037)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein tyrosine kinase activator activity (GO:0030296)|transmembrane signaling receptor activity (GO:0004888)			central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	8			OV - Ovarian serous cystadenocarcinoma(18;0.112)			AGCCTGTGTACCTCGCTGTCC	0.517																																						ENST00000267101.3																			0				central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	8						c.(769-771)Cct>Tct		v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3							93	87	89					12																	56481841		2203	4300	6503	SO:0001583	missense	2065				cranial nerve development|heart development|negative regulation of cell adhesion|negative regulation of neuron apoptosis|negative regulation of secretion|negative regulation of signal transduction|neuron apoptosis|phosphatidylinositol 3-kinase cascade|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of cell proliferation|Schwann cell differentiation|transmembrane receptor protein tyrosine kinase signaling pathway|wound healing	basolateral plasma membrane|extracellular space|integral to plasma membrane|receptor complex	ATP binding|growth factor binding|protein heterodimerization activity|protein homodimerization activity|protein tyrosine kinase activator activity|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity	g.chr12:56481841C>T	M34309	CCDS31833.1, CCDS44918.1	12q13	2013-07-09	2013-07-09			ENSG00000065361			3431	protein-coding gene	gene with protein product		190151	"lethal congenital contracture syndrome 2"	LCCS2			Standard	NM_001982		Approved	HER3	uc001sjh.3	P21860	OTTHUMG00000170140	ENST00000267101.3:c.769C>T	12.37:g.56481841C>T	ENSP00000267101:p.Pro257Ser					ERBB3_ENST00000450146.2_Intron|ERBB3_ENST00000415288.2_Missense_Mutation_p.P198S	p.P257S	NM_001982.3	NP_001973.2	P21860	ERBB3_HUMAN	OV - Ovarian serous cystadenocarcinoma(18;0.112)		7	1209	+			257					A8K6L6|B4DIK7|B4DV32|E9PDT8|Q9BUD7	Missense_Mutation	SNP	ENST00000267101.3	37	c.769C>T	CCDS31833.1	.	.	.	.	.	.	.	.	.	.	C	5.530	0.282690	0.10458	.	.	ENSG00000065361	ENST00000267101;ENST00000394099;ENST00000415288	D;D	0.83163	-1.69;-1.69	4.78	3.8	0.43715	Growth factor, receptor (1);Furin-like cysteine-rich domain (1);	0.427811	0.21180	N	0.078840	T	0.64549	0.2608	N	0.16233	0.39	0.23751	N	0.996942	B	0.02656	0.0	B	0.08055	0.003	T	0.44711	-0.9310	10	0.10377	T	0.69	.	6.8992	0.24273	0.1786:0.72:0.0:0.1014	.	257	P21860	ERBB3_HUMAN	S	257;257;198	ENSP00000267101:P257S;ENSP00000408340:P198S	ENSP00000267101:P257S	P	+	1	0	ERBB3	54768108	0.000000	0.05858	0.957000	0.39632	0.837000	0.47467	0.590000	0.23954	2.482000	0.83794	0.563000	0.77884	CCT		0.517	ERBB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407619.3			22	33	0	0	0	1	0	22	33					T	56481841	C	T	56481841	3	4	2	1	0	0	0	0	1	0	0	0	5208	507	18	3	926	3	ERBB3	12	56481841	Missense_Mutation	SNP	C	TCGA-2A-A8VO-01A-11D-A377-08	6124490	56481841	77370054	27	58											
ERBB3	2065	broad.mit.edu	37	chr12	56482346	56482346	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gataactttgtggtggatcaAacatcctgtgtcagggcctg	9	12	12	8	0	2	0	2	0	0	0	3	2	3	1	2	3	2	0	2	3	2	2			TCGA-2A-A8VO-01A-11D-A377-08	TCGA-2A-A8VO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea3d3e0f-ff85-4f89-99b5-375033ec614a	10813632-d72a-449d-a4a1-0d0811d48ec5	g.chr12:56482346A>T	ENST00000267101.3	+	8	1334	c.894A>T	c.(892-894)caA>caT	p.Q298H	ERBB3_ENST00000415288.2_Missense_Mutation_p.Q239H|ERBB3_ENST00000450146.2_Intron	NM_001982.3	NP_001973.2	P21860	ERBB3_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3	298					cranial nerve development (GO:0021545)|endocardial cushion development (GO:0003197)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|negative regulation of cell adhesion (GO:0007162)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of secretion (GO:0051048)|negative regulation of signal transduction (GO:0009968)|neuron apoptotic process (GO:0051402)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein tyrosine kinase activity (GO:0061098)|regulation of cell proliferation (GO:0042127)|Schwann cell differentiation (GO:0014037)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein tyrosine kinase activator activity (GO:0030296)|transmembrane signaling receptor activity (GO:0004888)			central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	8			OV - Ovarian serous cystadenocarcinoma(18;0.112)			TGGTGGATCAAACATCCTGTG	0.507																																						ENST00000267101.3																			0				central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	8						c.(892-894)caA>caT		v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3							215	207	210					12																	56482346		2203	4300	6503	SO:0001583	missense	2065				cranial nerve development|heart development|negative regulation of cell adhesion|negative regulation of neuron apoptosis|negative regulation of secretion|negative regulation of signal transduction|neuron apoptosis|phosphatidylinositol 3-kinase cascade|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of cell proliferation|Schwann cell differentiation|transmembrane receptor protein tyrosine kinase signaling pathway|wound healing	basolateral plasma membrane|extracellular space|integral to plasma membrane|receptor complex	ATP binding|growth factor binding|protein heterodimerization activity|protein homodimerization activity|protein tyrosine kinase activator activity|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity	g.chr12:56482346A>T	M34309	CCDS31833.1, CCDS44918.1	12q13	2013-07-09	2013-07-09			ENSG00000065361			3431	protein-coding gene	gene with protein product		190151	"lethal congenital contracture syndrome 2"	LCCS2			Standard	NM_001982		Approved	HER3	uc001sjh.3	P21860	OTTHUMG00000170140	ENST00000267101.3:c.894A>T	12.37:g.56482346A>T	ENSP00000267101:p.Gln298His					ERBB3_ENST00000450146.2_Intron|ERBB3_ENST00000415288.2_Missense_Mutation_p.Q239H	p.Q298H	NM_001982.3	NP_001973.2	P21860	ERBB3_HUMAN	OV - Ovarian serous cystadenocarcinoma(18;0.112)		8	1334	+			298					A8K6L6|B4DIK7|B4DV32|E9PDT8|Q9BUD7	Missense_Mutation	SNP	ENST00000267101.3	37	c.894A>T	CCDS31833.1	.	.	.	.	.	.	.	.	.	.	A	0.612	-0.824668	0.02755	.	.	ENSG00000065361	ENST00000267101;ENST00000394099;ENST00000415288	T;T	0.63913	-0.07;-0.07	5.2	-8.92	0.00774	Growth factor, receptor (1);Furin-like cysteine-rich domain (1);	0.200442	0.34291	N	0.004096	T	0.28599	0.0708	N	0.04508	-0.205	0.45307	D	0.998305	B	0.06786	0.001	B	0.09377	0.004	T	0.11867	-1.0570	10	0.19147	T	0.46	.	12.6724	0.56874	0.7505:0.0913:0.1582:0.0	.	298	P21860	ERBB3_HUMAN	H	298;298;239	ENSP00000267101:Q298H;ENSP00000408340:Q239H	ENSP00000267101:Q298H	Q	+	3	2	ERBB3	54768613	0.000000	0.05858	0.057000	0.19452	0.282000	0.26991	-2.247000	0.01190	-1.497000	0.01826	-0.468000	0.05107	CAA		0.507	ERBB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407619.3			19	156	0	0	0	1	0	19	156					T	56482346	A	T	56482346	3	4	2	1	0	0	0	0	1	0	0	0	5208	11	1	5	1055	5	ERBB3	12	56482346	Missense_Mutation	SNP	A	TCGA-2A-A8VO-01A-11D-A377-08	505	56482346	77369549	28	59											
SLC25A3	5250	broad.mit.edu	37	chr12	98995223	98995223	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtggtttatctatgactccGtgaaggtctacttcagactt	9	15	9	8	1	3	3	1	2	2	1	4	3	4	3	1	2	1	1	1	2	4	6	rs11544657		TCGA-2A-A8VO-01A-11D-A377-08	TCGA-2A-A8VO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea3d3e0f-ff85-4f89-99b5-375033ec614a	10813632-d72a-449d-a4a1-0d0811d48ec5	g.chr12:98995223G>A	ENST00000228318.3	+	8	1126	c.1006G>A	c.(1006-1008)Gtg>Atg	p.V336M	SLC25A3_ENST00000551917.1_Missense_Mutation_p.V336M|SLC25A3_ENST00000552981.1_Missense_Mutation_p.V335M|SNORA53_ENST00000391141.1_RNA|SLC25A3_ENST00000401722.3_Missense_Mutation_p.V335M|SLC25A3_ENST00000188376.5_Missense_Mutation_p.V335M|SLC25A3_ENST00000549338.1_Missense_Mutation_p.V335M|SLC25A3_ENST00000548847.1_Missense_Mutation_p.V298M	NM_005888.3	NP_005879.1	Q00325	MPCP_HUMAN	solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 3	336					generation of precursor metabolites and energy (GO:0006091)|phosphate ion transmembrane transport (GO:0035435)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	phosphate ion carrier activity (GO:0015320)|protein complex binding (GO:0032403)|symporter activity (GO:0015293)			breast(1)|endometrium(2)|large_intestine(4)|lung(8)|prostate(1)	16		Lung NSC(355;4.08e-05)|Breast(359;0.00191)|Colorectal(145;0.00205)|Myeloproliferative disorder(1001;0.0255)		GBM - Glioblastoma multiforme(134;1.36e-23)|BRCA - Breast invasive adenocarcinoma(302;0.000115)		CTATGACTCCGTGAAGGTCTA	0.468																																						ENST00000188376.5																			0				breast(1)|endometrium(2)|large_intestine(4)|lung(8)|prostate(1)	16						c.(1003-1005)Gtg>Atg		solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 3		G	MET/VAL,MET/VAL,MET/VAL	0,4406		0,0,2203	153	146	148		1003,1006,1003	5.5	1	12	dbSNP_120	148	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	SLC25A3	NM_002635.3,NM_005888.3,NM_213611.2	21,21,21	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging	335/362,336/363,335/362	98995223	1,13005	2203	4300	6503	SO:0001583	missense	5250				generation of precursor metabolites and energy	integral to plasma membrane|mitochondrial inner membrane	phosphate carrier activity|symporter activity	g.chr12:98995223G>A		CCDS9065.1, CCDS9066.1	12q23.1	2013-05-22			ENSG00000075415	ENSG00000075415		"Solute carriers"	10989	protein-coding gene	gene with protein product		600370		PHC		8168843	Standard	NM_213611		Approved		uc001tfo.3	Q00325	OTTHUMG00000170212	ENST00000228318.3:c.1006G>A	12.37:g.98995223G>A	ENSP00000228318:p.Val336Met					SLC25A3_ENST00000549338.1_Missense_Mutation_p.V335M|SLC25A3_ENST00000548847.1_Missense_Mutation_p.V298M|SLC25A3_ENST00000401722.3_Missense_Mutation_p.V335M|SLC25A3_ENST00000228318.3_Missense_Mutation_p.V336M|SLC25A3_ENST00000552981.1_Missense_Mutation_p.V335M|SLC25A3_ENST00000551917.1_Missense_Mutation_p.V336M	p.V335M	NM_002635.3|NM_213611.2	NP_002626.1|NP_998776.1	Q00325	MPCP_HUMAN		GBM - Glioblastoma multiforme(134;1.36e-23)|BRCA - Breast invasive adenocarcinoma(302;0.000115)	7	1357	+		Lung NSC(355;4.08e-05)|Breast(359;0.00191)|Colorectal(145;0.00205)|Myeloproliferative disorder(1001;0.0255)	336					B3KS34|Q7Z7N7|Q96A03	Missense_Mutation	SNP	ENST00000228318.3	37	c.1003G>A	CCDS9066.1	.	.	.	.	.	.	.	.	.	.	G	28.2	4.896309	0.91962	0.0	1.16E-4	ENSG00000075415	ENST00000401722;ENST00000188376;ENST00000228318;ENST00000551917;ENST00000552981;ENST00000549338;ENST00000548847	T;T;T;T;T;T;T	0.24151	1.87;1.87;1.87;1.87;1.87;1.87;1.87	5.48	5.48	0.80851	Mitochondrial carrier domain (2);	0.000000	0.85682	D	0.000000	T	0.50599	0.1625	M	0.81942	2.565	0.80722	D	1	D;P;D;D	0.63880	0.977;0.911;0.993;0.993	P;P;P;P	0.56514	0.701;0.658;0.657;0.8	T	0.54576	-0.8273	10	0.66056	D	0.02	-27.1035	19.7153	0.96115	0.0:0.0:1.0:0.0	rs11544657;rs11544657	298;335;336;335	F8VVM2;B2RE88;Q00325;Q00325-2	.;.;MPCP_HUMAN;.	M	335;335;336;336;335;335;298	ENSP00000383898:V335M;ENSP00000188376:V335M;ENSP00000228318:V336M;ENSP00000447310:V336M;ENSP00000448708:V335M;ENSP00000447740:V335M;ENSP00000449166:V298M	ENSP00000188376:V335M	V	+	1	0	SLC25A3	97519354	1.000000	0.71417	0.995000	0.50966	0.966000	0.64601	7.340000	0.79292	2.731000	0.93534	0.655000	0.94253	GTG		0.468	SLC25A3-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000407989.1	NM_005888		4	137	0	0	0	1	0	4	137					A	98995223	G	A	98995223	3	1	2	1	0	0	0	0	1	0	0	0	14493	1145	40	1	1158	1	SLC25A3	12	98995223	Missense_Mutation	SNP	G	TCGA-2A-A8VO-01A-11D-A377-08	42512877	98995223	34856672	29	60											
RBM19	9904	broad.mit.edu	37	chr12	114296676	114296676	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agtcatcttctttggcaggcGgaccgtcttcaactccccaa	8	11	8	14	2	5	0	2	0	3	0	6	1	6	1	3	3	1	1	3	3	2	3	rs138978572		TCGA-2A-A8VO-01A-11D-A377-08	TCGA-2A-A8VO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea3d3e0f-ff85-4f89-99b5-375033ec614a	10813632-d72a-449d-a4a1-0d0811d48ec5	g.chr12:114296676G>A	ENST00000545145.2	-	22	2662	c.2584C>T	c.(2584-2586)Cgc>Tgc	p.R862C	RBM19_ENST00000392561.3_Missense_Mutation_p.R862C|RBM19_ENST00000261741.5_Missense_Mutation_p.R862C	NM_001146699.1	NP_001140171.1	Q9Y4C8	RBM19_HUMAN	RNA binding motif protein 19	862	RRM 6. {ECO:0000255|PROSITE- ProRule:PRU00176}.				multicellular organismal development (GO:0007275)|positive regulation of embryonic development (GO:0040019)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(4)	55	Medulloblastoma(191;0.163)|all_neural(191;0.178)					TTTGGCAGGCGGACCGTCTTC	0.542																																						ENST00000545145.2																			0				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(4)	55						c.(2584-2586)Cgc>Tgc		RNA binding motif protein 19		G	CYS/ARG,CYS/ARG,CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	112	105	107		2584,2584,2584	5.2	1	12	dbSNP_134	107	0,8600		0,0,4300	no	missense,missense,missense	RBM19	NM_001146698.1,NM_001146699.1,NM_016196.3	180,180,180	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging,probably-damaging	862/961,862/961,862/961	114296676	1,13005	2203	4300	6503	SO:0001583	missense	9904				multicellular organismal development|positive regulation of embryonic development	chromosome|cytoplasm|nucleolus|nucleoplasm	nucleotide binding|RNA binding	g.chr12:114296676G>A	AL117547	CCDS9172.1	12q24.21	2013-02-12				ENSG00000122965		"RNA binding motif (RRM) containing"	29098	protein-coding gene	gene with protein product						9734811, 11230166	Standard	NM_016196		Approved	DKFZp586F1023, KIAA0682	uc009zwi.2	Q9Y4C8	OTTHUMG00000169646	ENST00000545145.2:c.2584C>T	12.37:g.114296676G>A	ENSP00000442053:p.Arg862Cys					RBM19_ENST00000261741.5_Missense_Mutation_p.R862C|RBM19_ENST00000392561.3_Missense_Mutation_p.R862C	p.R862C	NM_001146699.1	NP_001140171.1	Q9Y4C8	RBM19_HUMAN			22	2662	-	Medulloblastoma(191;0.163)|all_neural(191;0.178)		862			RRM 6.		A8K5X9|Q9BPY6|Q9UFN5	Missense_Mutation	SNP	ENST00000545145.2	37	c.2584C>T	CCDS9172.1	.	.	.	.	.	.	.	.	.	.	G	27.4	4.827047	0.90955	2.27E-4	0.0	ENSG00000122965	ENST00000545145;ENST00000392561;ENST00000261741	T;T;T	0.18810	2.19;2.19;2.19	5.2	5.2	0.72013	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.113936	0.64402	D	0.000009	T	0.59280	0.2182	M	0.93283	3.4	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.70528	-0.4847	10	0.56958	D	0.05	-16.6674	18.7652	0.91869	0.0:0.0:1.0:0.0	.	862	Q9Y4C8	RBM19_HUMAN	C	862	ENSP00000442053:R862C;ENSP00000376344:R862C;ENSP00000261741:R862C	ENSP00000261741:R862C	R	-	1	0	RBM19	112781059	1.000000	0.71417	0.999000	0.59377	0.988000	0.76386	9.209000	0.95087	2.412000	0.81896	0.655000	0.94253	CGC		0.542	RBM19-003	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405251.1	NM_016196		9	39	0	0	0	1	0	9	39					A	114296676	G	A	114296676	3	1	2	1	0	0	0	0	1	0	0	0	13121	1116	39	2	310	2	RBM19	12	114296676	Missense_Mutation	SNP	G	TCGA-2A-A8VO-01A-11D-A377-08	15301453	114296676	19555219	30	61											
PIWIL1	9271	broad.mit.edu	37	chr12	130830351	130830351	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cgttagcagagagaggaggtCgtcgtagagattttcatgat	11	11	14	5	3	1	4	1	1	0	3	3	7	1	5	0	2	1	3	0	2	2	4			TCGA-2A-A8VO-01A-11D-A377-08	TCGA-2A-A8VO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea3d3e0f-ff85-4f89-99b5-375033ec614a	10813632-d72a-449d-a4a1-0d0811d48ec5	g.chr12:130830351C>T	ENST00000245255.3	+	4	516	c.244C>T	c.(244-246)Cgt>Tgt	p.R82C		NM_001190971.1|NM_004764.4	NP_001177900.1|NP_004755.2	Q96J94	PIWL1_HUMAN	piwi-like RNA-mediated gene silencing 1	82					gene silencing by RNA (GO:0031047)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|piRNA metabolic process (GO:0034587)|regulation of translation (GO:0006417)|spermatid development (GO:0007286)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|mRNA cap binding complex (GO:0005845)|P granule (GO:0043186)|polysome (GO:0005844)	mRNA binding (GO:0003729)|piRNA binding (GO:0034584)|single-stranded RNA binding (GO:0003727)			breast(6)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(26)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	57	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;3.02e-06)|Epithelial(86;3.85e-05)|all cancers(50;4.65e-05)		GAGAGGAGGTCGTCGTAGAGA	0.363																																						ENST00000245255.3																			0				breast(6)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(26)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	57						c.(244-246)Cgt>Tgt		piwi-like RNA-mediated gene silencing 1							163	156	158					12																	130830351		2203	4300	6503	SO:0001583	missense	9271				gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatid development	chromatoid body|P granule	mRNA binding|piRNA binding|protein binding	g.chr12:130830351C>T	AF104260	CCDS9268.1	12q24.33	2014-01-21	2013-02-15		ENSG00000125207	ENSG00000125207		"Argonaute/PIWI family"	9007	protein-coding gene	gene with protein product		605571	"piwi (Drosophila)-like 1", "piwi-like 1 (Drosophila)"			9851978, 12906857	Standard	NM_004764		Approved	PIWI, HIWI, CT80.1	uc001uik.3	Q96J94	OTTHUMG00000168382	ENST00000245255.3:c.244C>T	12.37:g.130830351C>T	ENSP00000245255:p.Arg82Cys						p.R82C	NM_001190971.1|NM_004764.4	NP_001177900.1|NP_004755.2	Q96J94	PIWL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.02e-06)|Epithelial(86;3.85e-05)|all cancers(50;4.65e-05)	4	516	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		82					A4F266|O95404|Q8NA60|Q8TBY5|Q96JD5	Missense_Mutation	SNP	ENST00000245255.3	37	c.244C>T	CCDS9268.1	.	.	.	.	.	.	.	.	.	.	C	29.0	4.966841	0.92855	.	.	ENSG00000125207	ENST00000245255;ENST00000546060;ENST00000539400;ENST00000539995;ENST00000535956;ENST00000542723	T;T;T;T;T;T	0.09723	2.95;2.95;2.95;2.95;2.95;2.95	5.98	5.98	0.97165	.	0.047272	0.85682	D	0.000000	T	0.34424	0.0897	M	0.74881	2.28	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.66847	0.91;0.947	T	0.00398	-1.1764	10	0.40728	T	0.16	-4.5675	19.4463	0.94849	0.0:1.0:0.0:0.0	.	82;82	Q96J94;Q96J94-2	PIWL1_HUMAN;.	C	82	ENSP00000245255:R82C;ENSP00000442086:R82C;ENSP00000440677:R82C;ENSP00000439096:R82C;ENSP00000444353:R82C;ENSP00000438582:R82C	ENSP00000245255:R82C	R	+	1	0	PIWIL1	129396304	1.000000	0.71417	0.994000	0.49952	0.995000	0.86356	5.697000	0.68295	2.835000	0.97688	0.650000	0.86243	CGT		0.363	PIWIL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399510.1			17	63	0	0	0	1	0	17	63					T	130830351	C	T	130830351	3	4	2	1	0	0	0	0	1	0	0	0	11957	884	31	2	254	2	PIWIL1	12	130830351	Missense_Mutation	SNP	C	TCGA-2A-A8VO-01A-11D-A377-08	16533675	130830351	3021544	31	62											
ASB2	51676	broad.mit.edu	37	chr14	94420793	94420793	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcttcaaggcctcttcatcGccatccttgatggcctttat	6	15	7	13	1	4	1	2	1	2	0	6	1	5	1	4	2	0	0	4	2	2	5	rs146382240	byFrequency	TCGA-2A-A8VO-01A-11D-A377-08	TCGA-2A-A8VO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea3d3e0f-ff85-4f89-99b5-375033ec614a	10813632-d72a-449d-a4a1-0d0811d48ec5	g.chr14:94420793G>A	ENST00000315988.4	-	2	692	c.204C>T	c.(202-204)ggC>ggT	p.G68G	ASB2_ENST00000555019.1_Silent_p.G116G|ASB2_ENST00000556337.1_Intron	NM_016150.4	NP_057234.2	Q96Q27	ASB2_HUMAN	ankyrin repeat and SOCS box containing 2	68					intracellular signal transduction (GO:0035556)|myoblast differentiation (GO:0045445)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|signal transduction (GO:0007165)|skeletal muscle cell differentiation (GO:0035914)	Cul5-RING ubiquitin ligase complex (GO:0031466)	ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|soft_tissue(1)|urinary_tract(1)	27		all_cancers(154;0.13)		COAD - Colon adenocarcinoma(157;0.217)|Epithelial(152;0.232)		CCTCTTCATCGCCATCCTTGA	0.602													G|||	7	0.00139776	0.0053	0	5008	,	,		20384	0		0	False		,,,				2504	0					ENST00000555019.1																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|soft_tissue(1)|urinary_tract(1)	27						c.(346-348)ggC>ggT		ankyrin repeat and SOCS box containing 2		G	,	24,4382	31.7+/-61.6	0,24,2179	96	79	85		348,204	-8.4	0	14	dbSNP_134	85	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	ASB2	NM_001202429.1,NM_016150.4	,	0,24,6479	AA,AG,GG		0.0,0.5447,0.1845	,	116/636,68/588	94420793	24,12982	2203	4300	6503	SO:0001819	synonymous_variant	51676				intracellular signal transduction			g.chr14:94420793G>A	AF159164	CCDS9915.1, CCDS55940.1	14q31-q32	2013-01-10	2011-01-25					"Ankyrin repeat domain containing"	16012	protein-coding gene	gene with protein product		605759	"ankyrin repeat and SOCS box-containing 2"				Standard	NM_016150		Approved	ASB-2	uc001ycd.3	Q96Q27		ENST00000315988.4:c.204C>T	14.37:g.94420793G>A						ASB2_ENST00000556337.1_Intron|ASB2_ENST00000315988.4_Silent_p.G68G	p.G116G	NM_001202429.1	NP_001189358.1	Q96Q27	ASB2_HUMAN		COAD - Colon adenocarcinoma(157;0.217)|Epithelial(152;0.232)	4	778	-		all_cancers(154;0.13)	68					B2RDP9|B4E166|Q9NSU5|Q9Y567	Silent	SNP	ENST00000315988.4	37	c.348C>T	CCDS9915.1																																																																																				0.602	ASB2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000412845.1			11	36	0	0	0	1	0	11	36					A	94420793	G	A	94420793	2	1	2	1	0	0	0	0	0	0	0	1	1023	1074	38	1		1	ASB2	14	94420793	Silent	SNP	G	TCGA-2A-A8VO-01A-11D-A377-08		94420793	12928747	32	63											
TUBGCP4	27229	broad.mit.edu	37	chr15	43696671	43696671	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagtgttcggaatcatcagAtcaactcagatttggctcaa	12	11	8	10	1	5	2	5	0	0	2	6	3	5	3	1	2	1	2	1	2	3	2			TCGA-2A-A8VO-01A-11D-A377-08	TCGA-2A-A8VO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea3d3e0f-ff85-4f89-99b5-375033ec614a	10813632-d72a-449d-a4a1-0d0811d48ec5	g.chr15:43696671A>G	ENST00000260383.7	+	17	2166	c.1912A>G	c.(1912-1914)Atc>Gtc	p.I638V	TUBGCP4_ENST00000399460.3_3'UTR|TUBGCP4_ENST00000564079.1_Missense_Mutation_p.I637V			Q9UGJ1	GCP4_HUMAN	tubulin, gamma complex associated protein 4	638					G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)|protein complex assembly (GO:0006461)	centrosome (GO:0005813)|cytosol (GO:0005829)|gamma-tubulin ring complex (GO:0008274)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|spindle pole (GO:0000922)	structural constituent of cytoskeleton (GO:0005200)			breast(1)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(4)|prostate(2)|upper_aerodigestive_tract(2)	21		all_cancers(109;1.27e-10)|all_epithelial(112;4.82e-09)|Lung NSC(122;1.72e-06)|all_lung(180;1.59e-05)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;3.53e-07)		GAATCATCAGATCAACTCAGA	0.478																																						ENST00000564079.1																			0				breast(1)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(4)|prostate(2)|upper_aerodigestive_tract(2)	21						c.(1909-1911)Atc>Gtc		tubulin, gamma complex associated protein 4							100	93	95					15																	43696671		1894	4113	6007	SO:0001583	missense	27229				G2/M transition of mitotic cell cycle|microtubule nucleation|protein complex assembly	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	structural constituent of cytoskeleton	g.chr15:43696671A>G	AJ249677	CCDS42030.1, CCDS66745.1	15q15.3	2014-08-12			ENSG00000137822	ENSG00000137822			16691	protein-coding gene	gene with protein product		609610				10562286	Standard	NM_001286414		Approved	76P, FLJ14797	uc001zrn.3	Q9UGJ1	OTTHUMG00000176647	ENST00000260383.7:c.1912A>G	15.37:g.43696671A>G	ENSP00000260383:p.Ile638Val					TUBGCP4_ENST00000260383.7_Missense_Mutation_p.I638V|TUBGCP4_ENST00000399460.3_3'UTR	p.I637V	NM_014444.2	NP_055259.2	Q9UGJ1	GCP4_HUMAN		GBM - Glioblastoma multiforme(94;3.53e-07)	17	2149	+		all_cancers(109;1.27e-10)|all_epithelial(112;4.82e-09)|Lung NSC(122;1.72e-06)|all_lung(180;1.59e-05)|Melanoma(134;0.0728)	638					B3KNK6|Q969X3|Q9NVF0	Missense_Mutation	SNP	ENST00000260383.7	37	c.1909A>G		.	.	.	.	.	.	.	.	.	.	A	16.90	3.250393	0.59212	.	.	ENSG00000137822	ENST00000260383	.	.	.	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	T	0.41166	0.1147	N	0.08118	0	0.80722	D	1	B;B	0.18863	0.018;0.031	B;B	0.30251	0.053;0.113	T	0.30966	-0.9960	9	0.22706	T	0.39	-16.3089	15.4929	0.75624	1.0:0.0:0.0:0.0	.	638;637	Q9UGJ1;Q9UGJ1-2	GCP4_HUMAN;.	V	637	.	ENSP00000260383:I637V	I	+	1	0	TUBGCP4	41483963	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.057000	0.93889	2.308000	0.77769	0.533000	0.62120	ATC		0.478	TUBGCP4-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000432970.1	NM_014444		3	51	0	0	0	1	0	3	51					G	43696671	A	G	43696671	3	3	2	1	0	0	0	0	1	0	0	0	16765	333	12	4	1975	4	TUBGCP4	15	43696671	Missense_Mutation	SNP	A	TCGA-2A-A8VO-01A-11D-A377-08		43696671	58834721	33	64											
KRT9	3857	broad.mit.edu	37	chr17	39724878	39724878	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggatacctcatgctcgatcTgggttatctgcaaaaccaaa	12	11	8	10	1	3	0	1	0	2	0	4	2	3	1	2	2	4	3	2	2	5	2			TCGA-2A-A8VO-01A-11D-A377-08	TCGA-2A-A8VO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea3d3e0f-ff85-4f89-99b5-375033ec614a	10813632-d72a-449d-a4a1-0d0811d48ec5	g.chr17:39724878T>C	ENST00000246662.4	-	5	1117	c.1052A>G	c.(1051-1053)cAg>cGg	p.Q351R	KRT9_ENST00000588431.1_Missense_Mutation_p.Q118R	NM_000226.3	NP_000217.2	P35527	K1C9_HUMAN	keratin 9	351	Coil 2.|Rod.				epidermis development (GO:0008544)|intermediate filament organization (GO:0045109)|skin development (GO:0043588)|spermatogenesis (GO:0007283)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|membrane (GO:0016020)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		Breast(137;0.000307)				ATGCTCGATCTGGGTTATCTG	0.557																																						ENST00000246662.4																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						c.(1051-1053)cAg>cGg		keratin 9							270	254	259					17																	39724878		2203	4300	6503	SO:0001583	missense	3857				intermediate filament organization|skin development		protein binding|structural constituent of cytoskeleton	g.chr17:39724878T>C		CCDS32654.1	17q21.2	2013-06-20	2008-08-01		ENSG00000171403	ENSG00000171403		"-", "Intermediate filaments type I, keratins (acidic)"	6447	protein-coding gene	gene with protein product	"cytokeratin 9", "type I cytoskeletal 9", "epidermolytic palmoplantar keratoderma"	607606				7512862, 16831889	Standard	NM_000226		Approved	EPPK, K9, CK-9	uc002hxe.4	P35527	OTTHUMG00000133599	ENST00000246662.4:c.1052A>G	17.37:g.39724878T>C	ENSP00000246662:p.Gln351Arg					KRT9_ENST00000588431.1_Missense_Mutation_p.Q118R	p.Q351R	NM_000226.3	NP_000217.2	P35527	K1C9_HUMAN			5	1117	-		Breast(137;0.000307)	351			Coil 2.|Rod.		O00109|Q0IJ47|Q14665	Missense_Mutation	SNP	ENST00000246662.4	37	c.1052A>G	CCDS32654.1	.	.	.	.	.	.	.	.	.	.	T	19.99	3.929208	0.73327	.	.	ENSG00000171403	ENST00000246662	D	0.97752	-4.52	5.15	4.07	0.47477	Filament (1);	0.284083	0.19070	N	0.123524	D	0.95098	0.8412	L	0.57536	1.79	0.09310	N	1	P	0.39480	0.675	B	0.32465	0.146	D	0.90054	0.4151	10	0.87932	D	0	.	8.9283	0.35655	0.0:0.0855:0.0:0.9145	.	351	P35527	K1C9_HUMAN	R	351	ENSP00000246662:Q351R	ENSP00000246662:Q351R	Q	-	2	0	KRT9	36978404	0.154000	0.22792	0.007000	0.13788	0.751000	0.42716	3.413000	0.52686	0.779000	0.33543	0.459000	0.35465	CAG		0.557	KRT9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257707.1	NM_000226		62	182	0	0	0	1	0	62	182					C	39724878	T	C	39724878	3	2	2	1	0	0	0	0	1	0	0	0	8501	1580	55	4	831	4	KRT9	17	39724878	Missense_Mutation	SNP	T	TCGA-2A-A8VO-01A-11D-A377-08		39724878	41470332	34	65											
PSG7	5676	broad.mit.edu	37	chr19	43429943	43429943	+	RNA	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accagagactctgactgtcaCggatttggagctttccttgc	8	12	10	11	1	2	2	1	1	1	1	3	5	3	4	2	2	2	1	2	2	0	3			TCGA-2A-A8VO-01A-11D-A377-08	TCGA-2A-A8VO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea3d3e0f-ff85-4f89-99b5-375033ec614a	10813632-d72a-449d-a4a1-0d0811d48ec5	g.chr19:43429943C>A	ENST00000406070.2	-	0	1321				PSG7_ENST00000446844.3_RNA	NM_002783.2	NP_002774.2	Q13046	PSG7_HUMAN	pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene)						female pregnancy (GO:0007565)	extracellular region (GO:0005576)							Prostate(69;0.00682)				CTGACTGTCACGGATTTGGAG	0.463																																						ENST00000446844.3																			0													pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene)							202	204	204					19																	43429943		2201	4300	6501			5676				female pregnancy	extracellular region		g.chr19:43429943C>A			19q13.2	2013-01-29	2010-02-26		ENSG00000221878	ENSG00000221878		"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	9524	protein-coding gene	gene with protein product		176396	"pregnancy specific beta-1-glycoprotein 7"				Standard	NM_002783		Approved		uc010xwl.2	Q13046	OTTHUMG00000151125		19.37:g.43429943C>A						PSG7_ENST00000406070.2_RNA				Q13046	PSG7_HUMAN			0	1314	-		Prostate(69;0.00682)						Q15232	RNA	SNP	ENST00000406070.2	37																																																																																						0.463	PSG7-001	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000321431.2	NM_001206650		54	145	1	0	7.89702e-26	1	9.63051e-26	54	145					A	43429943	C	A	43429943	1	1	2	0	1	0	0	0	0	0	0	0	12660	536	19	5		5	PSG7	19	43429943	RNA	SNP	C	TCGA-2A-A8VO-01A-11D-A377-08		43429943	15699040	35	66											
ZNF285	26974	broad.mit.edu	37	chr19	44891645	44891645	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ttataagatttttctcctagGtgagtgctgtgatggacatg	9	16	11	5	0	1	3	0	2	1	1	2	4	1	4	1	2	1	1	1	2	3	5			TCGA-2A-A8VO-01A-11D-A377-08	TCGA-2A-A8VO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea3d3e0f-ff85-4f89-99b5-375033ec614a	10813632-d72a-449d-a4a1-0d0811d48ec5	g.chr19:44891645G>A	ENST00000330997.4	-	4	826	c.762C>T	c.(760-762)caC>caT	p.H254H	CTC-512J12.6_ENST00000588212.1_Intron|ZNF285_ENST00000544719.2_Silent_p.H254H|ZNF285_ENST00000591679.1_Silent_p.H261H	NM_152354.3	NP_689567.3	Q96NJ3	ZN285_HUMAN	zinc finger protein 285	254					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|prostate(5)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	44						TTTCTCCTAGGTGAGTGCTGT	0.433																																						ENST00000330997.4																			0				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|prostate(5)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	44						c.(760-762)caC>caT		zinc finger protein 285							93	98	96					19																	44891645		2203	4298	6501	SO:0001819	synonymous_variant	26974							g.chr19:44891645G>A	AK055309	CCDS12638.1, CCDS74389.1	19q13.32	2013-01-08	2010-04-14	2010-04-14		ENSG00000267508		"Zinc fingers, C2H2-type", "-"	13079	protein-coding gene	gene with protein product			"zinc finger protein 285A"	ZNF285A			Standard	XM_005258734		Approved			Q96NJ3	OTTHUMG00000178848	ENST00000330997.4:c.762C>T	19.37:g.44891645G>A						ZNF285_ENST00000544719.2_Silent_p.H254H|ZNF285_ENST00000591679.1_Silent_p.H261H|CTC-512J12.6_ENST00000588212.1_Intron	p.H254H	NM_152354.3	NP_689567.3					4	826	-								Q17RJ3|Q6B0A8|Q6ISR5	Silent	SNP	ENST00000330997.4	37	c.762C>T	CCDS12638.1																																																																																				0.433	ZNF285-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443600.1	NM_152354		9	114	0	0	0	1	0	9	114					A	44891645	G	A	44891645	2	1	2	1	0	0	0	0	0	0	0	1	17819	1252	44	3		3	ZNF285	19	44891645	Silent	SNP	G	TCGA-2A-A8VO-01A-11D-A377-08	1461702	44891645	14237338	36	67											
TIAM1	7074	broad.mit.edu	37	chr21	32589885	32589885	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctacctgattgatgcttggcCgtccctgcttctttttggag	4	16	10	11	1	1	2	0	2	1	0	2	3	2	3	3	2	3	2	3	2	1	6	rs531274411		TCGA-2A-A8VO-01A-11D-A377-08	TCGA-2A-A8VO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea3d3e0f-ff85-4f89-99b5-375033ec614a	10813632-d72a-449d-a4a1-0d0811d48ec5	g.chr21:32589885C>T	ENST00000286827.3	-	10	2597	c.2126G>A	c.(2125-2127)cGg>cAg	p.R709Q	TIAM1_ENST00000541036.1_Missense_Mutation_p.R709Q|TIAM1_ENST00000469412.1_5'UTR	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	709					apoptotic signaling pathway (GO:0097190)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|ephrin receptor signaling pathway (GO:0048013)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axonogenesis (GO:0050772)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|Rac protein signal transduction (GO:0016601)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell-cell contact zone (GO:0044291)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)	phospholipid binding (GO:0005543)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|receptor signaling protein activity (GO:0005057)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						GATGCTTGGCCGTCCCTGCTT	0.512																																						ENST00000286827.3																			0				autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						c.(2125-2127)cGg>cAg		T-cell lymphoma invasion and metastasis 1							191	169	176					21																	32589885		2203	4300	6503	SO:0001583	missense	7074				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cell-cell junction|cytosol	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity	g.chr21:32589885C>T		CCDS13609.1	21q22.1	2013-01-10			ENSG00000156299	ENSG00000156299		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	11805	protein-coding gene	gene with protein product		600687				8595894, 15340013	Standard	NM_003253		Approved		uc002yow.1	Q13009	OTTHUMG00000084869	ENST00000286827.3:c.2126G>A	21.37:g.32589885C>T	ENSP00000286827:p.Arg709Gln					TIAM1_ENST00000469412.1_5'UTR|TIAM1_ENST00000541036.1_Missense_Mutation_p.R709Q	p.R709Q	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN			10	2597	-			709					B7ZLR6|F5GZ53|Q17RT7	Missense_Mutation	SNP	ENST00000286827.3	37	c.2126G>A	CCDS13609.1	.	.	.	.	.	.	.	.	.	.	C	17.74	3.463503	0.63513	.	.	ENSG00000156299	ENST00000286827;ENST00000399841;ENST00000541036	T;T	0.30981	1.51;1.51	5.41	5.41	0.78517	.	0.137445	0.46442	D	0.000292	T	0.39989	0.1099	L	0.46157	1.445	0.53005	D	0.999963	D;D;B;D	0.58970	0.976;0.984;0.052;0.984	P;P;B;P	0.49140	0.601;0.493;0.01;0.493	T	0.21999	-1.0229	10	0.72032	D	0.01	.	19.3868	0.94560	0.0:1.0:0.0:0.0	.	709;709;550;709	F5GZ53;B7ZLR6;E9PD83;Q13009	.;.;.;TIAM1_HUMAN	Q	709;550;709	ENSP00000286827:R709Q;ENSP00000441570:R709Q	ENSP00000286827:R709Q	R	-	2	0	TIAM1	31511756	1.000000	0.71417	1.000000	0.80357	0.568000	0.35870	5.702000	0.68332	2.803000	0.96430	0.655000	0.94253	CGG		0.512	TIAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000192552.1	NM_003253		17	107	0	0	0	1	0	17	107					T	32589885	C	T	32589885	3	4	2	1	0	0	0	0	1	0	0	0	15887	652	23	2	2729	2	TIAM1	21	32589885	Missense_Mutation	SNP	C	TCGA-2A-A8VO-01A-11D-A377-08		32589885	15540010	37	68											
ZNF182	7569	broad.mit.edu	37	chrX	47836948	47836948	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tccattatcatatttattttCtgcagaacttctactaaata	13	18	2	8	0	3	1	1	0	2	1	4	1	4	1	1	0	3	1	1	0	8	10			TCGA-2A-A8VO-01A-11D-A377-08	TCGA-2A-A8VO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea3d3e0f-ff85-4f89-99b5-375033ec614a	10813632-d72a-449d-a4a1-0d0811d48ec5	g.chrX:47836948C>T	ENST00000396965.1	-	7	888	c.538G>A	c.(538-540)Gaa>Aaa	p.E180K	ZNF182_ENST00000305127.6_Missense_Mutation_p.E180K|ZNF182_ENST00000376943.3_Missense_Mutation_p.E161K	NM_001178099.1	NP_001171570.1	P17025	ZN182_HUMAN	zinc finger protein 182	180					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(5)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|prostate(1)	22						TATTTATTTTCTGCAGAACTT	0.333																																						ENST00000396965.1																			0				endometrium(5)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|prostate(1)	22						c.(538-540)Gaa>Aaa		zinc finger protein 182							61	56	57					X																	47836948		2203	4299	6502	SO:0001583	missense	7569				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chrX:47836948C>T	AK122874, R98366	CCDS35235.1, CCDS35236.1	Xp11.23	2013-01-08	2006-05-10	2006-05-10	ENSG00000147118	ENSG00000147118		"Zinc fingers, C2H2-type", "-"	13001	protein-coding gene	gene with protein product		314993	"zinc finger protein 182 (HHZ150)", "zinc finger protein 21 (KOX 14)"	ZNF21		8088786, 2014798, 8914609	Standard	NM_001178099		Approved	KOX14, HHZ150, Zfp182	uc004dit.3	P17025	OTTHUMG00000021460	ENST00000396965.1:c.538G>A	X.37:g.47836948C>T	ENSP00000380165:p.Glu180Lys					ZNF182_ENST00000305127.6_Missense_Mutation_p.E180K|ZNF182_ENST00000376943.3_Missense_Mutation_p.E161K	p.E180K	NM_001178099.1	NP_001171570.1	P17025	ZN182_HUMAN			7	888	-			180					A2IDD7|Q3KP67|Q96QH7	Missense_Mutation	SNP	ENST00000396965.1	37	c.538G>A	CCDS35236.1	.	.	.	.	.	.	.	.	.	.	C	2.570	-0.299769	0.05532	.	.	ENSG00000147118	ENST00000376943;ENST00000396965;ENST00000305127	T;T;T	0.06449	3.3;3.31;3.31	3.87	3.87	0.44632	.	.	.	.	.	T	0.03305	0.0096	N	0.03608	-0.345	0.09310	N	1	B;B;B	0.19583	0.009;0.037;0.037	B;B;B	0.19946	0.027;0.021;0.021	T	0.36016	-0.9765	9	0.42905	T	0.14	.	8.6145	0.33822	0.0:0.77:0.23:0.0	.	160;161;180	B4DRM0;Q96QH7;P17025	.;.;ZN182_HUMAN	K	161;180;180	ENSP00000366142:E161K;ENSP00000380165:E180K;ENSP00000306351:E180K	ENSP00000306351:E180K	E	-	1	0	ZNF182	47721892	0.108000	0.22018	0.516000	0.27786	0.374000	0.29953	1.432000	0.34936	2.177000	0.69029	0.594000	0.82650	GAA		0.333	ZNF182-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000277055.1	NM_006962		15	15	0	0	0	1	0	15	15					T	47836948	C	T	47836948	3	4	2	1	0	0	0	0	1	0	0	0	17747	922	32	3	1385	3	ZNF182	23	47836948	Missense_Mutation	SNP	C	TCGA-2A-A8VO-01A-11D-A377-08		47836948	107433612	38	69											
IGSF1	3547	broad.mit.edu	37	chrX	130419246	130419246	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgtaaaccccttcatcctCaggtgtcaggttgtcaatgg	9	12	10	10	0	4	0	4	0	0	0	5	1	5	0	3	3	1	2	3	3	3	3			TCGA-2A-A8VO-01A-11D-A377-08	TCGA-2A-A8VO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea3d3e0f-ff85-4f89-99b5-375033ec614a	10813632-d72a-449d-a4a1-0d0811d48ec5	g.chrX:130419246C>A	ENST00000361420.3	-	5	653	c.574G>T	c.(574-576)Gag>Tag	p.E192*	IGSF1_ENST00000370901.4_Nonsense_Mutation_p.E192*|IGSF1_ENST00000370903.3_Nonsense_Mutation_p.E192*|IGSF1_ENST00000370900.1_Nonsense_Mutation_p.E192*|IGSF1_ENST00000370910.1_Nonsense_Mutation_p.E183*|IGSF1_ENST00000370904.1_Nonsense_Mutation_p.E183*			Q8N6C5	IGSF1_HUMAN	immunoglobulin superfamily, member 1	192	Ig-like C2-type 2.				regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	coreceptor activity (GO:0015026)|inhibin binding (GO:0034711)|receptor activity (GO:0004872)			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						CCTTCATCCTCAGGTGTCAGG	0.517																																						ENST00000370904.1																			0				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						c.(547-549)Gag>Tag		immunoglobulin superfamily, member 1							190	135	154					X																	130419246		2203	4300	6503	SO:0001587	stop_gained	3547				regulation of transcription, DNA-dependent	extracellular region|integral to membrane	inhibin beta-A binding|inhibin beta-B binding	g.chrX:130419246C>A	AF034198	CCDS14629.1, CCDS14630.1, CCDS55490.1, CCDS55491.1	Xq25	2013-01-11			ENSG00000147255	ENSG00000147255		"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5948	protein-coding gene	gene with protein product		300137				9521868, 9729118	Standard	NM_001555		Approved	KIAA0364, IGDC1, IGCD1, INHBP, MGC75490, PGSF2	uc004ewe.4	Q8N6C5	OTTHUMG00000022406	ENST00000361420.3:c.574G>T	X.37:g.130419246C>A	ENSP00000355010:p.Glu192*					IGSF1_ENST00000370903.3_Nonsense_Mutation_p.E192*|IGSF1_ENST00000370901.4_Nonsense_Mutation_p.E192*|IGSF1_ENST00000370910.1_Nonsense_Mutation_p.E183*|IGSF1_ENST00000361420.3_Nonsense_Mutation_p.E192*|IGSF1_ENST00000370900.1_Nonsense_Mutation_p.E192*	p.E183*			Q8N6C5	IGSF1_HUMAN			11	1457	-			192			Ig-like C2-type 2.		B5MEG2|H9KV64|O15070|Q9NTC8	Nonsense_Mutation	SNP	ENST00000361420.3	37	c.547G>T	CCDS14629.1	.	.	.	.	.	.	.	.	.	.	C	24.5	4.543760	0.86022	.	.	ENSG00000147255	ENST00000370910;ENST00000361420;ENST00000370904;ENST00000370903;ENST00000370901;ENST00000370900	.	.	.	4.01	4.01	0.46588	.	0.000000	0.47455	D	0.000223	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	.	10.5268	0.44954	0.0:1.0:0.0:0.0	.	.	.	.	X	183;192;183;192;192;192	.	ENSP00000355010:E192X	E	-	1	0	IGSF1	130246927	0.505000	0.26131	0.995000	0.50966	0.963000	0.63663	0.925000	0.28791	2.243000	0.73865	0.600000	0.82982	GAG		0.517	IGSF1-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058288.1			28	36	1	0	3.73988e-18	1	4.3487e-18	28	36					A	130419246	C	A	130419246	4	1	2	1	0	0	0	0	0	1	0	0	7596	835	29	5	3577	5	IGSF1	23	130419246	Nonsense_Mutation	SNP	C	TCGA-2A-A8VO-01A-11D-A377-08	82582298	130419246	24851314	39	70											
GSTM3	2947	broad.mit.edu	37	chr1	110280790	110280790	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctatgatgtccactcgaaTcttttcttcttcagtctcac	7	17	4	13	1	6	1	2	1	5	0	9	2	7	1	1	0	0	0	1	0	2	5			TCGA-2A-A8VT-01A-11D-A377-08	TCGA-2A-A8VT-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	517cb9af-54ec-4a7e-b093-16081dcfa7e1	076097b4-8ca9-433c-bd04-799c7e1da5f9	g.chr1:110280790T>A	ENST00000540225.1	-	6	605	c.295A>T	c.(295-297)Att>Ttt	p.I99F	RP4-735C1.4_ENST00000431955.1_RNA|GSTM3_ENST00000488824.1_5'UTR|GSTM3_ENST00000256594.3_Missense_Mutation_p.I99F|GSTM3_ENST00000361066.2_Missense_Mutation_p.I99F			P21266	GSTM3_HUMAN	glutathione S-transferase mu 3 (brain)	99	GST C-terminal.				cellular detoxification of nitrogen compound (GO:0070458)|establishment of blood-nerve barrier (GO:0008065)|glutathione derivative biosynthetic process (GO:1901687)|glutathione metabolic process (GO:0006749)|nitrobenzene metabolic process (GO:0018916)|response to estrogen (GO:0043627)|small molecule metabolic process (GO:0044281)|xenobiotic catabolic process (GO:0042178)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|sperm fibrous sheath (GO:0035686)	enzyme binding (GO:0019899)|glutathione binding (GO:0043295)|glutathione transferase activity (GO:0004364)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)|skin(1)	9		all_epithelial(167;1.95e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)		Colorectal(144;0.0339)|Lung(183;0.0426)|all cancers(265;0.113)|Epithelial(280;0.125)|COAD - Colon adenocarcinoma(174;0.134)|LUSC - Lung squamous cell carcinoma(189;0.228)	Glutathione(DB00143)|Vitamin E(DB00163)	TCCACTCGAATCTTTTCTTCT	0.473																																						ENST00000540225.1																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)|skin(1)	9						c.(295-297)Att>Ttt		glutathione S-transferase mu 3 (brain)	Glutathione(DB00143)						217	204	209					1																	110280790		2203	4300	6503	SO:0001583	missense	2947				establishment of blood-nerve barrier|glutathione metabolic process|response to estrogen stimulus	cytoplasm	glutathione transferase activity|identical protein binding	g.chr1:110280790T>A	BC000088	CCDS812.1	1p13.3	2012-06-21	2008-11-26		ENSG00000134202	ENSG00000134202	2.5.1.18	"Glutathione S-transferases / Soluble"	4635	protein-coding gene	gene with protein product		138390	"glutathione S-transferase M3 (brain)"			2345169	Standard	NM_000849		Approved	GST5	uc001dyo.2	P21266	OTTHUMG00000011640	ENST00000540225.1:c.295A>T	1.37:g.110280790T>A	ENSP00000444978:p.Ile99Phe					RP4-735C1.4_ENST00000431955.1_RNA|GSTM3_ENST00000361066.2_Missense_Mutation_p.I99F|GSTM3_ENST00000256594.3_Missense_Mutation_p.I99F|GSTM3_ENST00000488824.1_5'UTR	p.I99F			P21266	GSTM3_HUMAN		Colorectal(144;0.0339)|Lung(183;0.0426)|all cancers(265;0.113)|Epithelial(280;0.125)|COAD - Colon adenocarcinoma(174;0.134)|LUSC - Lung squamous cell carcinoma(189;0.228)	6	605	-		all_epithelial(167;1.95e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)	99			GST C-terminal.		O60550|Q96HA3	Missense_Mutation	SNP	ENST00000540225.1	37	c.295A>T	CCDS812.1	.	.	.	.	.	.	.	.	.	.	T	19.65	3.868200	0.72065	.	.	ENSG00000134202	ENST00000540225;ENST00000256594;ENST00000361066	T;T;T	0.03635	3.86;3.86;3.86	5.41	4.29	0.51040	Glutathione S-transferase, C-terminal-like (1);Glutathione S-transferase/chloride channel, C-terminal (1);Thioredoxin-like fold (1);	0.140827	0.64402	D	0.000005	T	0.12347	0.0300	H	0.95574	3.69	0.50313	D	0.999862	P;D;P	0.54207	0.642;0.965;0.642	B;P;B	0.56434	0.053;0.798;0.053	T	0.01409	-1.1362	10	0.87932	D	0	-7.924	10.3588	0.43980	0.0:0.0777:0.0:0.9222	.	99;105;99	Q6FGJ9;Q59EJ5;P21266	.;.;GSTM3_HUMAN	F	99	ENSP00000444978:I99F;ENSP00000256594:I99F;ENSP00000354357:I99F	ENSP00000256594:I99F	I	-	1	0	GSTM3	110082313	1.000000	0.71417	0.999000	0.59377	0.879000	0.50718	1.618000	0.36954	1.071000	0.40834	0.460000	0.39030	ATT		0.473	GSTM3-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032182.1	NM_000849		3	38	0	0	0	1	0	3	38					A	110280790	T	A	110280790	3	1	3	1	0	0	0	0	1	0	0	0	6839	1435	50	5	398	5	GSTM3	1	110280790	Missense_Mutation	SNP	T	TCGA-2A-A8VT-01A-11D-A377-08		110280790	138969831	1	71											
LY9	4063	broad.mit.edu	37	chr1	160793350	160793350	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaggcaacagcctacacccAcctcagacagcagctctgac	12	4	7	18	0	2	2	1	1	1	1	2	2	2	2	4	1	5	3	4	1	2	1			TCGA-2A-A8VT-01A-11D-A377-08	TCGA-2A-A8VT-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	517cb9af-54ec-4a7e-b093-16081dcfa7e1	076097b4-8ca9-433c-bd04-799c7e1da5f9	g.chr1:160793350A>T	ENST00000263285.6	+	8	1624	c.1594A>T	c.(1594-1596)Acc>Tcc	p.T532S	LY9_ENST00000368041.2_Missense_Mutation_p.T402S|LY9_ENST00000341032.4_Intron|LY9_ENST00000368040.1_Missense_Mutation_p.T170S|LY9_ENST00000368037.5_Missense_Mutation_p.T518S|LY9_ENST00000392203.4_Missense_Mutation_p.T442S			Q9HBG7	LY9_HUMAN	lymphocyte antigen 9	532					cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			GCCTACACCCACCTCAGACAG	0.557																																						ENST00000263285.5																			0				autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36						c.(1594-1596)Acc>Tcc		lymphocyte antigen 9							80	68	72					1																	160793350		2203	4300	6503	SO:0001583	missense	4063				cell adhesion|immunoglobulin mediated immune response	integral to membrane		g.chr1:160793350A>T	L42621	CCDS30916.1, CCDS30917.1, CCDS65695.1, CCDS65696.1	1q23.3	2013-01-11			ENSG00000122224	ENSG00000122224		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6730	protein-coding gene	gene with protein product		600684				8537117, 7797269	Standard	NM_001261457		Approved	CD229, mLY9, SLAMF3, hly9	uc001fwu.4	Q9HBG7	OTTHUMG00000024007	ENST00000263285.6:c.1594A>T	1.37:g.160793350A>T	ENSP00000263285:p.Thr532Ser					LY9_ENST00000341032.4_Intron|LY9_ENST00000368040.1_Missense_Mutation_p.T170S|LY9_ENST00000368035.1_Missense_Mutation_p.T170S|LY9_ENST00000368041.2_Missense_Mutation_p.T402S	p.T532S	NM_001261456.1|NM_002348.3	NP_001248385.1|NP_002339.2	Q9HBG7	LY9_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00737)		8	1624	+	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)		532					A8K7N3|Q14775|Q5VYI3|Q6P2J4|Q9H4N5|Q9NQ24	Missense_Mutation	SNP	ENST00000263285.6	37	c.1594A>T	CCDS30916.1	.	.	.	.	.	.	.	.	.	.	A	7.592	0.671045	0.14776	.	.	ENSG00000122224	ENST00000368041;ENST00000368040;ENST00000263285;ENST00000392203;ENST00000368037;ENST00000368035	T;T;T	0.36340	2.42;1.26;2.42	3.34	-6.68	0.01778	.	1.625600	0.04499	U	0.380910	T	0.07052	0.0179	L	0.31926	0.97	0.09310	N	1	B;B;B;B;B	0.28350	0.132;0.062;0.034;0.208;0.132	B;B;B;B;B	0.27887	0.038;0.01;0.011;0.084;0.038	T	0.03761	-1.1006	10	0.45353	T	0.12	-0.0145	2.2305	0.03995	0.2909:0.3291:0.2714:0.1086	.	170;478;402;518;532	Q5VYI1;Q5VYH7;Q5VYH9;Q9HBG7-2;Q9HBG7	.;.;.;.;LY9_HUMAN	S	532;170;532;402;478;170	ENSP00000357019:T170S;ENSP00000263285:T532S;ENSP00000357014:T170S	ENSP00000263285:T532S	T	+	1	0	LY9	159059974	0.000000	0.05858	0.000000	0.03702	0.089000	0.18198	-2.123000	0.01319	-3.031000	0.00266	-1.777000	0.00654	ACC		0.557	LY9-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060457.3	NM_002348		4	29	0	0	0	1	0	4	29					T	160793350	A	T	160793350	3	4	3	1	0	0	0	0	1	0	0	0	9101	159	6	5	1756	5	LY9	1	160793350	Missense_Mutation	SNP	A	TCGA-2A-A8VT-01A-11D-A377-08	50512560	160793350	88457271	2	72											
USH2A	7399	broad.mit.edu	37	chr1	215963501	215963501	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctctttggaataagttcaGtctcacagcattttactggc	9	14	9	9	0	3	0	2	0	2	0	4	1	3	1	0	3	2	3	0	3	3	5			TCGA-2A-A8VT-01A-11D-A377-08	TCGA-2A-A8VT-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	517cb9af-54ec-4a7e-b093-16081dcfa7e1	076097b4-8ca9-433c-bd04-799c7e1da5f9	g.chr1:215963501G>T	ENST00000307340.3	-	51	10468	c.10082C>A	c.(10081-10083)aCt>aAt	p.T3361N	USH2A_ENST00000366943.2_Missense_Mutation_p.T3361N	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	3361					hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		AATAAGTTCAGTCTCACAGCA	0.383										HNSCC(13;0.011)																												ENST00000366943.2																			0				NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527						c.(10081-10083)aCt>aAt		Usher syndrome 2A (autosomal recessive, mild)							134	128	130					1																	215963501		2203	4300	6503	SO:0001583	missense	7399				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	g.chr1:215963501G>T	AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"Fibronectin type III domain containing"	12601	protein-coding gene	gene with protein product	"usherin"	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.10082C>A	1.37:g.215963501G>T	ENSP00000305941:p.Thr3361Asn	HNSCC(13;0.011)				USH2A_ENST00000307340.3_Missense_Mutation_p.T3361N	p.T3361N			O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	51	10468	-			3361					Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	c.10082C>A	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.156772	0.78114	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	T;T	0.13901	2.55;2.55	5.76	4.85	0.62838	Fibronectin, type III (2);	0.144127	0.31484	N	0.007576	T	0.25568	0.0622	M	0.63428	1.95	0.42377	D	0.99247	D	0.59767	0.986	P	0.50970	0.655	T	0.03240	-1.1057	10	0.72032	D	0.01	.	15.0855	0.72148	0.0677:0.0:0.9323:0.0	.	3361	O75445	USH2A_HUMAN	N	3361	ENSP00000305941:T3361N;ENSP00000355910:T3361N	ENSP00000305941:T3361N	T	-	2	0	USH2A	214030124	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.960000	0.70348	1.445000	0.47624	-0.126000	0.14955	ACT		0.383	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		5	52	1	0	0.00116845	1	0.00123218	5	52					T	215963501	G	T	215963501	3	4	3	1	0	0	0	0	1	0	0	0	17033	1029	36	5	5614	5	USH2A	1	215963501	Missense_Mutation	SNP	G	TCGA-2A-A8VT-01A-11D-A377-08	55170151	215963501	33287120	3	73											
ETAA1	54465	broad.mit.edu	37	chr2	67631095	67631095	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtaaaactgttaaaaatacGtcaagagcaaatacaagtcc	20	8	6	7	1	1	1	1	0	0	1	2	1	2	1	1	0	4	3	1	0	10	4	rs148395449	byFrequency	TCGA-2A-A8VT-01A-11D-A377-08	TCGA-2A-A8VT-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	517cb9af-54ec-4a7e-b093-16081dcfa7e1	076097b4-8ca9-433c-bd04-799c7e1da5f9	g.chr2:67631095G>A	ENST00000272342.5	+	5	1411	c.1281G>A	c.(1279-1281)acG>acA	p.T427T	ETAA1_ENST00000462772.1_Intron	NM_019002.3	NP_061875.2	Q9NY74	ETAA1_HUMAN	Ewing tumor-associated antigen 1	427						cytoplasm (GO:0005737)				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(3)|prostate(1)|stomach(3)|urinary_tract(1)	33						TTAAAAATACGTCAAGAGCAA	0.333																																						ENST00000272342.5																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(3)|prostate(1)|stomach(3)|urinary_tract(1)	33						c.(1279-1281)acG>acA		Ewing tumor-associated antigen 1							47	51	50					2																	67631095		2194	4297	6491	SO:0001819	synonymous_variant	54465					cytoplasm|nucleus		g.chr2:67631095G>A	AJ242682	CCDS1882.1	2p14	2014-02-12	2007-10-04		ENSG00000143971	ENSG00000143971			24648	protein-coding gene	gene with protein product		613196	"Ewing's tumor-associated antigen 1"			16003559	Standard	XM_005264374		Approved	ETAA16	uc002sdz.1	Q9NY74	OTTHUMG00000129545	ENST00000272342.5:c.1281G>A	2.37:g.67631095G>A						ETAA1_ENST00000462772.1_Intron	p.T427T	NM_019002.3	NP_061875.2	Q9NY74	ETAA1_HUMAN			5	1411	+			427					Q05BT7|Q53SC4	Silent	SNP	ENST00000272342.5	37	c.1281G>A	CCDS1882.1																																																																																				0.333	ETAA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251735.1	NM_019002		3	53	0	0	0	1	0	3	53					A	67631095	G	A	67631095	2	1	3	1	0	0	0	0	0	0	0	1	5267	1132	40	1		1	ETAA1	2	67631095	Silent	SNP	G	TCGA-2A-A8VT-01A-11D-A377-08		67631095	175568278	4	74											
CLEC4F	165530	broad.mit.edu	37	chr2	71043280	71043280	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggccttctgcagattgctGtctaacatctgggtctggga	6	13	12	10	0	4	1	0	0	4	1	4	2	4	2	1	3	3	2	1	3	1	3	rs148473537		TCGA-2A-A8VT-01A-11D-A377-08	TCGA-2A-A8VT-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	517cb9af-54ec-4a7e-b093-16081dcfa7e1	076097b4-8ca9-433c-bd04-799c7e1da5f9	g.chr2:71043280G>T	ENST00000272367.2	-	4	1309	c.1233C>A	c.(1231-1233)gaC>gaA	p.D411E	CLEC4F_ENST00000426626.1_Missense_Mutation_p.D411E	NM_001258027.1|NM_173535.2	NP_001244956.1|NP_775806.2	Q8N1N0	CLC4F_HUMAN	C-type lectin domain family 4, member F	411					endocytosis (GO:0006897)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			endometrium(1)|large_intestine(5)|lung(18)|ovary(5)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)	37						GCAGATTGCTGTCTAACATCT	0.468																																					Colon(107;10 2157 6841 26035)	ENST00000272367.2																			0				endometrium(1)|large_intestine(5)|lung(18)|ovary(5)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)	37						c.(1231-1233)gaC>gaA		C-type lectin domain family 4, member F							138	125	130					2																	71043280		2203	4300	6503	SO:0001583	missense	165530				endocytosis	integral to membrane	receptor activity|sugar binding	g.chr2:71043280G>T	AK096429	CCDS1910.1	2p13.3	2008-02-05	2005-02-09	2005-02-11	ENSG00000152672	ENSG00000152672		"C-type lectin domain containing"	25357	protein-coding gene	gene with protein product			"C-type (calcium dependent, carbohydrate-recognition domain) lectin, superfamily member 13"	CLECSF13		8889548, 1846367	Standard	NM_001258027		Approved	FLJ39110, KCLR	uc002shf.3	Q8N1N0	OTTHUMG00000129713	ENST00000272367.2:c.1233C>A	2.37:g.71043280G>T	ENSP00000272367:p.Asp411Glu					CLEC4F_ENST00000426626.1_Missense_Mutation_p.D411E	p.D411E	NM_001258027.1|NM_173535.2	NP_001244956.1|NP_775806.2	Q8N1N0	CLC4F_HUMAN			4	1309	-			411					A4QPA5	Missense_Mutation	SNP	ENST00000272367.2	37	c.1233C>A	CCDS1910.1	.	.	.	.	.	.	.	.	.	.	G	0.309	-0.969036	0.02232	.	.	ENSG00000152672	ENST00000272367;ENST00000426626	T;T	0.68903	-0.36;-0.36	3.99	1.09	0.20402	.	0.935613	0.08830	N	0.887432	T	0.29620	0.0739	N	0.01352	-0.895	0.09310	N	1	B;B	0.06786	0.0;0.001	B;B	0.04013	0.001;0.001	T	0.31110	-0.9955	10	0.02654	T	1	.	5.363	0.16098	0.0:0.6498:0.2005:0.1497	.	411;411	B7ZMM1;Q8N1N0	.;CLC4F_HUMAN	E	411	ENSP00000272367:D411E;ENSP00000390581:D411E	ENSP00000272367:D411E	D	-	3	2	CLEC4F	70896788	0.000000	0.05858	0.001000	0.08648	0.418000	0.31294	-0.104000	0.10923	0.222000	0.20900	-0.499000	0.04595	GAC		0.468	CLEC4F-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251922.1	NM_173535		3	40	1	0	0.004672	1	0.00475396	3	40					T	71043280	G	T	71043280	3	4	3	1	0	0	0	0	1	0	0	0	3516	1368	48	5	552	5	CLEC4F	2	71043280	Missense_Mutation	SNP	G	TCGA-2A-A8VT-01A-11D-A377-08	3412185	71043280	172156093	5	75											
LRRTM1	347730	broad.mit.edu	37	chr2	80530341	80530341	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caagccggcgaaagagttgcGcgccagactcttgagctgat	10	7	13	11	4	1	4	0	2	1	2	1	5	1	4	2	1	3	2	2	1	2	2			TCGA-2A-A8VT-01A-11D-A377-08	TCGA-2A-A8VT-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	517cb9af-54ec-4a7e-b093-16081dcfa7e1	076097b4-8ca9-433c-bd04-799c7e1da5f9	g.chr2:80530341G>A	ENST00000295057.3	-	2	1260	c.604C>T	c.(604-606)Cgc>Tgc	p.R202C	LRRTM1_ENST00000409148.1_Missense_Mutation_p.R202C|CTNNA2_ENST00000402739.4_Intron|CTNNA2_ENST00000496558.1_Intron|CTNNA2_ENST00000541047.1_Intron|CTNNA2_ENST00000540488.1_Intron|CTNNA2_ENST00000466387.1_Intron|CTNNA2_ENST00000361291.4_Intron	NM_178839.4	NP_849161.2	Q86UE6	LRRT1_HUMAN	leucine rich repeat transmembrane neuronal 1	202					exploration behavior (GO:0035640)|locomotory behavior (GO:0007626)|long-term synaptic potentiation (GO:0060291)|negative regulation of receptor internalization (GO:0002091)|protein localization to synapse (GO:0035418)|synapse organization (GO:0050808)	axon (GO:0030424)|cell junction (GO:0030054)|endoplasmic reticulum (GO:0005783)|excitatory synapse (GO:0060076)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)				NS(1)|breast(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(33)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	63						AAAGAGTTGCGCGCCAGACTC	0.587										HNSCC(69;0.2)																												ENST00000295057.3																			0				NS(1)|breast(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(33)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	63						c.(604-606)Cgc>Tgc		leucine rich repeat transmembrane neuronal 1							76	78	77					2																	80530341		2203	4300	6503	SO:0001583	missense	347730					axon|endoplasmic reticulum membrane|growth cone|integral to membrane		g.chr2:80530341G>A	AY358310	CCDS1966.1	2p12	2004-06-22			ENSG00000162951	ENSG00000162951			19408	protein-coding gene	gene with protein product		610867				12676565	Standard	XR_244930		Approved	FLJ32082	uc002sok.1	Q86UE6	OTTHUMG00000130021	ENST00000295057.3:c.604C>T	2.37:g.80530341G>A	ENSP00000295057:p.Arg202Cys	HNSCC(69;0.2)				CTNNA2_ENST00000541047.1_Intron|CTNNA2_ENST00000361291.4_Intron|CTNNA2_ENST00000466387.1_Intron|LRRTM1_ENST00000409148.1_Missense_Mutation_p.R202C|CTNNA2_ENST00000540488.1_Intron|CTNNA2_ENST00000496558.1_Intron|CTNNA2_ENST00000402739.4_Intron	p.R202C	NM_178839.4	NP_849161.2	Q86UE6	LRRT1_HUMAN			2	1260	-			202					A8K397|D6W5K1|Q96DN1	Missense_Mutation	SNP	ENST00000295057.3	37	c.604C>T	CCDS1966.1	.	.	.	.	.	.	.	.	.	.	G	17.80	3.478843	0.63849	.	.	ENSG00000162951	ENST00000295057;ENST00000409148;ENST00000416268	T;T;T	0.79845	-1.31;-1.31;4.3	4.93	4.93	0.64822	.	0.000000	0.85682	U	0.000000	D	0.89054	0.6606	M	0.71036	2.16	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.89033	0.3443	9	.	.	.	.	18.1217	0.89573	0.0:0.0:1.0:0.0	.	202	Q86UE6	LRRT1_HUMAN	C	202	ENSP00000295057:R202C;ENSP00000386646:R202C;ENSP00000415368:R202C	.	R	-	1	0	LRRTM1	80383852	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.631000	0.74277	2.232000	0.73038	0.655000	0.94253	CGC		0.587	LRRTM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313614.1	NM_178839		10	59	0	0	0	1	0	10	59					A	80530341	G	A	80530341	3	1	3	1	0	0	0	0	1	0	0	0	9039	1087	38	1	968	1	LRRTM1	2	80530341	Missense_Mutation	SNP	G	TCGA-2A-A8VT-01A-11D-A377-08	9487061	80530341	162669032	6	76											
LRP1B	53353	broad.mit.edu	37	chr2	141598583	141598583	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gccttgccacattaatttgcGtttcatcaaattctgagcta	10	15	6	10	1	3	1	2	1	1	0	3	1	3	1	2	0	3	2	2	0	3	6	rs199519370	byFrequency	TCGA-2A-A8VT-01A-11D-A377-08	TCGA-2A-A8VT-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	517cb9af-54ec-4a7e-b093-16081dcfa7e1	076097b4-8ca9-433c-bd04-799c7e1da5f9	g.chr2:141598583G>A	ENST00000389484.3	-	30	5989	c.5018C>T	c.(5017-5019)aCg>aTg	p.T1673M		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	1673					protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)	p.T1673K(1)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		ATTAATTTGCGTTTCATCAAA	0.418										TSP Lung(27;0.18)			G|||	2	0.000399361	0	0	5008	,	,		14938	0.001		0	False		,,,				2504	0.001				Colon(99;50 2074 2507 20106)	ENST00000389484.3																			1	Substitution - Missense(1)	p.T1673K(1)	lung(1)	NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606						c.(5017-5019)aCg>aTg		low density lipoprotein receptor-related protein 1B		G	MET/THR	0,4406		0,0,2203	136	123	127		5018	5.4	1	2		127	2,8598	2.2+/-6.3	0,2,4298	no	missense	LRP1B	NM_018557.2	81	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	probably-damaging	1673/4600	141598583	2,13004	2203	4300	6503	SO:0001583	missense	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141598583G>A	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"Low density lipoprotein receptors"	6693	protein-coding gene	gene with protein product	"LRP-deleted in tumors"	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.5018C>T	2.37:g.141598583G>A	ENSP00000374135:p.Thr1673Met	TSP Lung(27;0.18)					p.T1673M	NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)	30	5989	-		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)	1673					Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	c.5018C>T	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.059924	0.76074	0.0	2.33E-4	ENSG00000168702	ENST00000389484;ENST00000544579	D	0.90261	-2.64	5.44	5.44	0.79542	Six-bladed beta-propeller, TolB-like (1);	0.074341	0.52532	U	0.000071	D	0.91808	0.7408	L	0.40543	1.245	0.44221	D	0.997051	D	0.76494	0.999	P	0.56088	0.791	D	0.91784	0.5438	10	0.49607	T	0.09	.	19.2577	0.93952	0.0:0.0:1.0:0.0	.	1673	Q9NZR2	LRP1B_HUMAN	M	1673;1611	ENSP00000374135:T1673M	ENSP00000374135:T1673M	T	-	2	0	LRP1B	141315053	1.000000	0.71417	0.998000	0.56505	0.882000	0.50991	5.345000	0.65987	2.563000	0.86464	0.460000	0.39030	ACG		0.418	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		17	45	0	0	0	1	0	17	45					A	141598583	G	A	141598583	3	1	3	1	0	0	0	0	1	0	0	0	8955	1145	40	1	9029	1	LRP1B	2	141598583	Missense_Mutation	SNP	G	TCGA-2A-A8VT-01A-11D-A377-08	61068242	141598583	101600790	7	77											
ALPP	250	broad.mit.edu	37	chr2	233244506	233244506	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagtggtaaccaccacacgaGtgcagcacgcctcgccagcc	10	4	11	16	3	0	0	0	0	0	0	1	2	0	0	5	1	4	3	5	1	1	1			TCGA-2A-A8VT-01A-11D-A377-08	TCGA-2A-A8VT-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	517cb9af-54ec-4a7e-b093-16081dcfa7e1	076097b4-8ca9-433c-bd04-799c7e1da5f9	g.chr2:233244506G>A	ENST00000392027.2	+	5	786	c.517G>A	c.(517-519)Gtg>Atg	p.V173M	AC068134.8_ENST00000441266.1_RNA|AC068134.8_ENST00000439072.1_RNA	NM_001632.3	NP_001623.3	P05187	PPB1_HUMAN	alkaline phosphatase, placental	173					dephosphorylation (GO:0016311)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alkaline phosphatase activity (GO:0004035)|magnesium ion binding (GO:0000287)|zinc ion binding (GO:0008270)			NS(1)|biliary_tract(1)|endometrium(1)|kidney(4)|large_intestine(2)|liver(1)|lung(10)|ovary(2)	22		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)		CACCACACGAGTGCAGCACGC	0.657																																						ENST00000392027.2																			0				NS(1)|biliary_tract(1)|endometrium(1)|kidney(4)|large_intestine(2)|liver(1)|lung(10)|ovary(2)	22						c.(517-519)Gtg>Atg		alkaline phosphatase, placental							60	59	59					2																	233244506		2203	4300	6503	SO:0001583	missense	250					anchored to membrane|cell surface|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding	g.chr2:233244506G>A	M14169	CCDS2490.1	2q37.1	2010-06-24	2010-06-24		ENSG00000163283	ENSG00000163283	3.1.3.1		439	protein-coding gene	gene with protein product	"Regan isozyme"	171800	"alkaline phosphatase, placental (Regan isozyme)"			3001717, 3461452	Standard	XM_005246439		Approved		uc002vsq.3	P05187	OTTHUMG00000133255	ENST00000392027.2:c.517G>A	2.37:g.233244506G>A	ENSP00000375881:p.Val173Met					AC068134.8_ENST00000441266.1_RNA|AC068134.8_ENST00000439072.1_RNA	p.V173M	NM_001632.3	NP_001623.3	P05187	PPB1_HUMAN		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)	5	786	+		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)	173					P05188|P06861|Q53S78|Q96DB7	Missense_Mutation	SNP	ENST00000392027.2	37	c.517G>A	CCDS2490.1	.	.	.	.	.	.	.	.	.	.	.	15.89	2.965837	0.53507	.	.	ENSG00000163283	ENST00000392027	D	0.97752	-4.52	2.31	2.31	0.28768	Alkaline phosphatase-like, alpha/beta/alpha (1);Alkaline-phosphatase-like, core domain (1);	0.000000	0.85682	D	0.000000	D	0.98754	0.9581	M	0.91300	3.195	0.54753	D	0.999989	D	0.89917	1.0	D	0.91635	0.999	D	0.99257	1.0889	10	0.87932	D	0	.	12.9891	0.58608	0.0:0.0:1.0:0.0	.	173	P05187	PPB1_HUMAN	M	173	ENSP00000375881:V173M	ENSP00000375881:V173M	V	+	1	0	ALPP	232952750	1.000000	0.71417	0.551000	0.28230	0.289000	0.27227	7.154000	0.77437	1.289000	0.44618	0.298000	0.19748	GTG		0.657	ALPP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257032.3	NM_001632		13	25	0	0	0	1	0	13	25					A	233244506	G	A	233244506	3	1	3	1	0	0	0	0	1	0	0	0	548	1029	36	3	535	3	ALPP	2	233244506	Missense_Mutation	SNP	G	TCGA-2A-A8VT-01A-11D-A377-08	91645923	233244506	9954867	8	78											
HLTF	6596	broad.mit.edu	37	chr3	148765942	148765942	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtcctttaaagaattctggaTtggagtacctagaaataaca	15	12	8	6	0	1	2	0	0	1	2	2	4	2	4	2	2	2	1	2	2	7	7			TCGA-2A-A8VT-01A-11D-A377-08	TCGA-2A-A8VT-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	517cb9af-54ec-4a7e-b093-16081dcfa7e1	076097b4-8ca9-433c-bd04-799c7e1da5f9	g.chr3:148765942T>C	ENST00000310053.5	-	17	1958	c.1765A>G	c.(1765-1767)Atc>Gtc	p.I589V	HLTF_ENST00000465259.1_Missense_Mutation_p.I588V|HLTF_ENST00000392912.2_Missense_Mutation_p.I589V|HLTF_ENST00000494055.1_Missense_Mutation_p.I589V	NM_003071.3|NM_139048.2	NP_003062.2|NP_620636.1	Q14527	HLTF_HUMAN	helicase-like transcription factor	589	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				chromatin modification (GO:0016568)|protein ubiquitination (GO:0016567)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	47			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)			GAATTCTGGATTGGAGTACCT	0.348																																						ENST00000310053.5																			0				breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	47						c.(1765-1767)Atc>Gtc		helicase-like transcription factor							55	57	57					3																	148765942		2203	4300	6503	SO:0001583	missense	6596				chromatin modification|transcription, DNA-dependent	nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding	g.chr3:148765942T>C	L34673	CCDS33875.1	3q25.1-q26.1	2006-11-09	2006-11-09	2006-11-09	ENSG00000071794	ENSG00000071794		"RING-type (C3HC4) zinc fingers"	11099	protein-coding gene	gene with protein product		603257	"SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 3"	SNF2L3, SMARCA3		7558014	Standard	NM_139048		Approved	HIP116A, HLTF1, RNF80	uc003ewr.1	Q14527	OTTHUMG00000159534	ENST00000310053.5:c.1765A>G	3.37:g.148765942T>C	ENSP00000308944:p.Ile589Val					HLTF_ENST00000494055.1_Missense_Mutation_p.I589V|HLTF_ENST00000465259.1_Missense_Mutation_p.I588V|HLTF_ENST00000392912.2_Missense_Mutation_p.I589V	p.I589V	NM_003071.3|NM_139048.2	NP_003062.2|NP_620636.1	Q14527	HLTF_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)		17	1958	-			589			Helicase ATP-binding.		D3DNH3|Q14536|Q16051|Q7KYJ6|Q86YA5|Q92652|Q96KM9	Missense_Mutation	SNP	ENST00000310053.5	37	c.1765A>G	CCDS33875.1	.	.	.	.	.	.	.	.	.	.	T	21.8	4.205036	0.79127	.	.	ENSG00000071794	ENST00000465259;ENST00000310053;ENST00000392912;ENST00000494055;ENST00000467858	D;D;D;D;D	0.93953	-3.32;-3.32;-3.32;-3.32;-3.32	5.65	5.65	0.86999	DEAD-like helicase (2);SNF2-related (1);	.	.	.	.	D	0.94476	0.8222	L	0.35249	1.045	0.58432	D	0.999992	D;D;D	0.76494	0.999;0.998;0.996	D;D;D	0.83275	0.988;0.996;0.944	D	0.95259	0.8367	9	0.87932	D	0	-4.2497	14.8528	0.70309	0.0:0.0:0.0:1.0	.	589;589;589	Q59GQ7;A8K5B6;Q14527	.;.;HLTF_HUMAN	V	588;589;589;589;53	ENSP00000420745:I588V;ENSP00000308944:I589V;ENSP00000376644:I589V;ENSP00000420429:I589V;ENSP00000420106:I53V	ENSP00000308944:I589V	I	-	1	0	HLTF	150248632	1.000000	0.71417	0.993000	0.49108	0.981000	0.71138	7.210000	0.77924	2.146000	0.66826	0.533000	0.62120	ATC		0.348	HLTF-003	KNOWN	alternative_3_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356064.1			16	25	0	0	0	1	0	16	25					C	148765942	T	C	148765942	3	2	3	1	0	0	0	0	1	0	0	0	7215	1493	52	4	1300	4	HLTF	3	148765942	Missense_Mutation	SNP	T	TCGA-2A-A8VT-01A-11D-A377-08		148765942	49256488	9	79											
SI	6476	broad.mit.edu	37	chr3	164712161	164712161	+	Frame_Shift_Del	DEL	A	A	-																															atattccttgacatttcagcAaaagtttcattccaggaagc																								rs148726149		TCGA-2A-A8VT-01A-11D-A377-08	TCGA-2A-A8VT-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	517cb9af-54ec-4a7e-b093-16081dcfa7e1	076097b4-8ca9-433c-bd04-799c7e1da5f9	g.chr3:164712161delA	ENST00000264382.3	-	41	4787	c.4725delT	c.(4723-4725)tttfs	p.F1575fs		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	1575	Sucrase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	brush border (GO:0005903)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|oligo-1,6-glucosidase activity (GO:0004574)|sucrose alpha-glucosidase activity (GO:0004575)			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)|Scopolamine(DB00747)	ACATTTCAGCAAAAGTTTCAT	0.328										HNSCC(35;0.089)																												ENST00000264382.3																			0				NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218						c.(4723-4725)ttfs		sucrase-isomaltase (alpha-glucosidase)	Acarbose(DB00284)						106	111	109					3																	164712161		2203	4300	6503	SO:0001589	frameshift_variant	6476				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity	g.chr3:164712161delA	X63597	CCDS3196.1	3q25.2-q26.2	2004-04-06	2004-04-06		ENSG00000090402	ENSG00000090402	3.2.1.10		10856	protein-coding gene	gene with protein product	"Oligosaccharide alpha-1,6-glucosidase"	609845	"sucrase-isomaltase"			2962903, 1353958	Standard	NM_001041		Approved		uc003fei.3	P14410	OTTHUMG00000158065	ENST00000264382.3:c.4725delT	3.37:g.164712161delA	ENSP00000264382:p.Phe1575fs	HNSCC(35;0.089)					p.F1575fs	NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN			41	4787	-		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)	1575			Sucrase.		A2RUC3|Q1JQ80|Q1RMC2	Frame_Shift_Del	DEL	ENST00000264382.3	37	c.4725delT	CCDS3196.1																																																																																				0.328	SI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350116.1	NM_001041		7	187						7	187	---	---	---	---	-	164712161	A	-	164712161	7	5	3	1	0	1	0	1	0	0	0	0	14297	127	5	0	790	0	SI	3	164712161	Frame_Shift_Del	DEL	A	TCGA-2A-A8VT-01A-11D-A377-08	15946219	164712161	33310269	10	80											
FAT4	79633	broad.mit.edu	37	chr4	126372551	126372551	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctattaatccgcagacaggAcagatcaccgttactgcaga	13	9	8	11	2	2	3	1	0	1	3	3	4	3	4	2	1	2	3	2	1	3	3			TCGA-2A-A8VT-01A-11D-A377-08	TCGA-2A-A8VT-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	517cb9af-54ec-4a7e-b093-16081dcfa7e1	076097b4-8ca9-433c-bd04-799c7e1da5f9	g.chr4:126372551A>G	ENST00000394329.3	+	9	10393	c.10380A>G	c.(10378-10380)ggA>ggG	p.G3460G	FAT4_ENST00000335110.5_Silent_p.G1758G	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	3460	Cadherin 33. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						CGCAGACAGGACAGATCACCG	0.473																																						ENST00000394329.3																			0				NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						c.(10378-10380)ggA>ggG		FAT atypical cadherin 4							101	104	103					4																	126372551		2203	4300	6503	SO:0001819	synonymous_variant	79633				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:126372551A>G	AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"Cadherins / Cadherin-related"	23109	protein-coding gene	gene with protein product	"cadherin-related family member 11"	612411	"FAT tumor suppressor homolog 4 (Drosophila)"			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.10380A>G	4.37:g.126372551A>G						FAT4_ENST00000335110.5_Silent_p.G1758G	p.G3460G	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN			9	10393	+			3460			Cadherin 33.		A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Silent	SNP	ENST00000394329.3	37	c.10380A>G	CCDS3732.3																																																																																				0.473	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582		18	59	0	0	0	1	0	18	59					G	126372551	A	G	126372551	2	3	3	1	0	0	0	0	0	0	0	1	5692	262	10	4		4	FAT4	4	126372551	Silent	SNP	A	TCGA-2A-A8VT-01A-11D-A377-08		126372551	64781725	11	81											
C9	735	broad.mit.edu	37	chr5	39331784	39331784	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccgaggagacttacttcataGatcaaagaagccacgttcca	14	8	8	11	2	2	3	2	0	0	3	3	5	3	3	3	1	2	1	3	1	4	4			TCGA-2A-A8VT-01A-11D-A377-08	TCGA-2A-A8VT-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	517cb9af-54ec-4a7e-b093-16081dcfa7e1	076097b4-8ca9-433c-bd04-799c7e1da5f9	g.chr5:39331784G>C	ENST00000263408.4	-	5	704	c.609C>G	c.(607-609)atC>atG	p.I203M	C9_ENST00000509186.1_5'UTR	NM_001737.3	NP_001728.1	P02748	CO9_HUMAN	complement component 9	203	MACPF. {ECO:0000255|PROSITE- ProRule:PRU00745}.		I -> V (in dbSNP:rs13361416).		complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|hemolysis by symbiont of host erythrocytes (GO:0019836)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane attack complex (GO:0005579)|plasma membrane (GO:0005886)				central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	32	all_lung(31;0.000197)	all_neural(839;7.57e-10)|Lung NSC(810;2.62e-08)|Ovarian(839;0.00384)|Breast(839;0.0184)|Myeloproliferative disorder(839;0.0511)	Epithelial(62;0.158)			TTACTTCATAGATCAAAGAAG	0.398																																						ENST00000263408.4																			0				central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	32						c.(607-609)atC>atG		complement component 9							123	119	121					5																	39331784		2203	4300	6503	SO:0001583	missense	735				complement activation, alternative pathway|complement activation, classical pathway|cytolysis|hemolysis by symbiont of host erythrocytes	extracellular region|membrane attack complex		g.chr5:39331784G>C		CCDS3929.1	5p14-p12	2014-09-17			ENSG00000113600	ENSG00000113600		"Complement system"	1358	protein-coding gene	gene with protein product		120940					Standard	NM_001737		Approved		uc003jlv.4	P02748	OTTHUMG00000094767	ENST00000263408.4:c.609C>G	5.37:g.39331784G>C	ENSP00000263408:p.Ile203Met					C9_ENST00000509186.1_5'UTR	p.I203M	NM_001737.3	NP_001728.1	P02748	CO9_HUMAN	Epithelial(62;0.158)		5	704	-	all_lung(31;0.000197)	all_neural(839;7.57e-10)|Lung NSC(810;2.62e-08)|Ovarian(839;0.00384)|Breast(839;0.0184)|Myeloproliferative disorder(839;0.0511)	203		I -> V (in dbSNP:rs13361416).	MACPF.			Missense_Mutation	SNP	ENST00000263408.4	37	c.609C>G	CCDS3929.1	.	.	.	.	.	.	.	.	.	.	G	0.804	-0.754264	0.03041	.	.	ENSG00000113600	ENST00000263408	T	0.29655	1.56	5.52	-2.09	0.07232	Membrane attack complex component/perforin (MACPF) domain (1);	1.368680	0.04186	N	0.327329	T	0.19366	0.0465	L	0.31294	0.92	0.09310	N	1	B	0.09022	0.002	B	0.09377	0.004	T	0.19877	-1.0292	10	0.38643	T	0.18	0.6476	1.9461	0.03357	0.2672:0.3687:0.2402:0.1239	.	203	P02748	CO9_HUMAN	M	203	ENSP00000263408:I203M	ENSP00000263408:I203M	I	-	3	3	C9	39367541	0.017000	0.18338	0.029000	0.17559	0.010000	0.07245	0.058000	0.14301	-0.211000	0.10124	-1.286000	0.01371	ATC		0.398	C9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211576.3			20	24	0	0	0	1	0	20	24					C	39331784	G	C	39331784	3	2	3	1	0	0	0	0	1	0	0	0	2443	932	33	5	1098	5	C9	5	39331784	Missense_Mutation	SNP	G	TCGA-2A-A8VT-01A-11D-A377-08		39331784	141583476	12	82											
NUDT12	83594	broad.mit.edu	37	chr5	102890441	102890441	+	Splice_Site	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	attattaagaaatggcttacCaggctcaataaatccagcaa	17	10	6	8	0	1	1	1	0	0	1	2	1	2	1	2	2	2	3	2	2	8	4			TCGA-2A-A8VT-01A-11D-A377-08	TCGA-2A-A8VT-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	517cb9af-54ec-4a7e-b093-16081dcfa7e1	076097b4-8ca9-433c-bd04-799c7e1da5f9	g.chr5:102890441C>G	ENST00000230792.2	-	5	1174	c.1078G>C	c.(1078-1080)Gga>Cga	p.G360R	NUDT12_ENST00000507423.1_Splice_Site_p.G342R|NUDT12_ENST00000515407.1_5'UTR	NM_031438.2	NP_113626.1	Q9BQG2	NUD12_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 12	360	Nudix hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00794}.				NAD catabolic process (GO:0019677)|NADP catabolic process (GO:0006742)	nucleus (GO:0005634)|peroxisome (GO:0005777)	metal ion binding (GO:0046872)|NAD+ diphosphatase activity (GO:0000210)|NADH pyrophosphatase activity (GO:0035529)			endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(6)|urinary_tract(1)	12		all_cancers(142;6.38e-08)|all_epithelial(76;1.99e-10)|Prostate(80;0.0138)|Lung NSC(167;0.0212)|Colorectal(57;0.0247)|all_lung(232;0.0283)|Ovarian(225;0.0423)		Epithelial(69;9.3e-13)|COAD - Colon adenocarcinoma(37;0.0221)		AATGGCTTACCAGGCTCAATA	0.313																																						ENST00000230792.2																			0				endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(6)|urinary_tract(1)	12						c.e5+1		nudix (nucleoside diphosphate linked moiety X)-type motif 12							46	45	45					5																	102890441		2202	4300	6502	SO:0001630	splice_region_variant	83594					nucleus|peroxisome	metal ion binding|NAD+ diphosphatase activity	g.chr5:102890441C>G	AL136592	CCDS4096.1, CCDS75284.1	5q15	2013-01-10			ENSG00000112874	ENSG00000112874		"Nudix motif containing", "Ankyrin repeat domain containing"	18826	protein-coding gene	gene with protein product	"nucleoside diphosphate linked moiety X-type motif 12"	609232				11230166	Standard	XM_005272095		Approved	DKFZP761I172	uc003koi.3	Q9BQG2	OTTHUMG00000128739	ENST00000230792.2:c.1078+1G>C	5.37:g.102890441C>G						NUDT12_ENST00000515407.1_5'UTR|NUDT12_ENST00000507423.1_Splice_Site_p.G342_splice	p.G360_splice	NM_031438.2	NP_113626.1	Q9BQG2	NUD12_HUMAN		Epithelial(69;9.3e-13)|COAD - Colon adenocarcinoma(37;0.0221)	5	1174	-		all_cancers(142;6.38e-08)|all_epithelial(76;1.99e-10)|Prostate(80;0.0138)|Lung NSC(167;0.0212)|Colorectal(57;0.0247)|all_lung(232;0.0283)|Ovarian(225;0.0423)	360			Nudix hydrolase.		B3KUW2|Q8TAL7	Splice_Site	SNP	ENST00000230792.2	37	c.1078_splice	CCDS4096.1	.	.	.	.	.	.	.	.	.	.	C	28.0	4.880329	0.91740	.	.	ENSG00000112874	ENST00000230792;ENST00000507423	T;T	0.66815	-0.23;-0.23	5.62	5.62	0.85841	NUDIX hydrolase domain (3);NUDIX hydrolase, conserved site (1);NUDIX hydrolase domain-like (1);	0.000000	0.85682	D	0.000000	D	0.88062	0.6336	H	0.95645	3.7	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.91123	0.4931	10	0.87932	D	0	-15.7369	19.6452	0.95773	0.0:1.0:0.0:0.0	.	342;360	E7EM93;Q9BQG2	.;NUD12_HUMAN	R	360;342	ENSP00000230792:G360R;ENSP00000424521:G342R	ENSP00000230792:G360R	G	-	1	0	NUDT12	102918340	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.420000	0.80191	2.638000	0.89438	0.655000	0.94253	GGA		0.313	NUDT12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250650.1	NM_031438	Missense_Mutation	3	28	0	0	0	1	0	3	28					G	102890441	C	G	102890441	5	3	3	1	0	0	0	0	0	0	1	0	10728	608	21	5	322	5	NUDT12	5	102890441	Splice_Site	SNP	C	TCGA-2A-A8VT-01A-11D-A377-08	63558657	102890441	78024819	13	83											
COQ3	51805	broad.mit.edu	37	chr6	99823923	99823923	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctgcagtctcttccacaaTctcttccagggaacacactc	9	12	5	15	0	3	0	0	0	3	0	8	1	5	1	2	1	2	1	2	1	2	3			TCGA-2A-A8VT-01A-11D-A377-08	TCGA-2A-A8VT-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	517cb9af-54ec-4a7e-b093-16081dcfa7e1	076097b4-8ca9-433c-bd04-799c7e1da5f9	g.chr6:99823923T>C	ENST00000254759.3	-	5	646	c.622A>G	c.(622-624)Att>Gtt	p.I208V	COQ3_ENST00000369242.1_Intron|COQ3_ENST00000479163.1_5'Flank|COQ3_ENST00000369240.1_Intron	NM_017421.3	NP_059117.3	Q9NZJ6	COQ3_HUMAN	coenzyme Q3 methyltransferase	208					glycerol metabolic process (GO:0006071)|small molecule metabolic process (GO:0044281)|ubiquinone biosynthetic process (GO:0006744)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	2-polyprenyl-6-methoxy-1,4-benzoquinone methyltransferase activity (GO:0008425)|3-demethylubiquinone-9 3-O-methyltransferase activity (GO:0008689)|hexaprenyldihydroxybenzoate methyltransferase activity (GO:0004395)|O-methyltransferase activity (GO:0008171)			cervix(1)|lung(5)|upper_aerodigestive_tract(2)	8		all_cancers(76;1.24e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.00716)|Colorectal(196;0.0691)|Lung NSC(302;0.186)		BRCA - Breast invasive adenocarcinoma(108;0.0625)		TCTTCCACAATCTCTTCCAGG	0.403																																						ENST00000254759.3																			0				cervix(1)|lung(5)|upper_aerodigestive_tract(2)	8						c.(622-624)Att>Gtt		coenzyme Q3 methyltransferase							209	200	203					6																	99823923		2203	4300	6503	SO:0001583	missense	51805				glycerol metabolic process|ubiquinone biosynthetic process	mitochondrial matrix	2-polyprenyl-6-methoxy-1,4-benzoquinone methyltransferase activity|3-demethylubiquinone-9 3-O-methyltransferase activity|hexaprenyldihydroxybenzoate methyltransferase activity	g.chr6:99823923T>C	AF193016	CCDS5042.1	6q21	2013-05-01	2013-05-01		ENSG00000132423	ENSG00000132423	2.1.1.114		18175	protein-coding gene	gene with protein product	"polyprenyldihydroxybenzoate methyltransferase"	605196	"coenzyme Q3 homolog, methyltransferase (yeast)", "coenzyme Q3 homolog, methyltransferase (S. cerevisiae)"			10777520	Standard	NM_017421		Approved	bA9819.1	uc003ppk.3	Q9NZJ6	OTTHUMG00000015264	ENST00000254759.3:c.622A>G	6.37:g.99823923T>C	ENSP00000254759:p.Ile208Val					COQ3_ENST00000369242.1_Intron|COQ3_ENST00000369240.1_Intron	p.I208V	NM_017421.3	NP_059117.3	Q9NZJ6	COQ3_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0625)	5	646	-		all_cancers(76;1.24e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.00716)|Colorectal(196;0.0691)|Lung NSC(302;0.186)	208					B3KPX0|Q5T061|Q6P4F0|Q8IXG6|Q96BG1|Q9H0N1	Missense_Mutation	SNP	ENST00000254759.3	37	c.622A>G	CCDS5042.1	.	.	.	.	.	.	.	.	.	.	T	13.75	2.329207	0.41197	.	.	ENSG00000132423	ENST00000254759	T	0.13901	2.55	5.49	4.28	0.50868	Methyltransferase type 11 (1);	0.293471	0.38326	N	0.001733	T	0.02649	0.0080	N	0.05012	-0.13	0.80722	D	1	B	0.24258	0.1	B	0.29077	0.098	T	0.29761	-1.0001	10	0.59425	D	0.04	-7.4689	7.6291	0.28228	0.0:0.0722:0.1402:0.7876	.	208	Q9NZJ6	COQ3_HUMAN	V	208	ENSP00000254759:I208V	ENSP00000254759:I208V	I	-	1	0	COQ3	99930644	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	3.925000	0.56484	0.871000	0.35750	0.459000	0.35465	ATT		0.403	COQ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041602.1	NM_017421		4	75	0	0	0	1	0	4	75					C	99823923	T	C	99823923	3	2	3	1	0	0	0	0	1	0	0	0	3746	1435	50	4	499	4	COQ3	6	99823923	Missense_Mutation	SNP	T	TCGA-2A-A8VT-01A-11D-A377-08		99823923	71291144	14	84											
TAB2	23118	broad.mit.edu	37	chr6	149699821	149699821	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcacagcctggtccctggaCtacttgtcctgcatctaatc	7	13	7	14	0	2	0	1	0	1	0	5	1	4	1	3	2	3	1	3	2	2	4			TCGA-2A-A8VT-01A-11D-A377-08	TCGA-2A-A8VT-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	517cb9af-54ec-4a7e-b093-16081dcfa7e1	076097b4-8ca9-433c-bd04-799c7e1da5f9	g.chr6:149699821C>T	ENST00000367456.1	+	4	1347	c.770C>T	c.(769-771)aCt>aTt	p.T257I	TAB2_ENST00000538427.1_Missense_Mutation_p.T257I|TAB2_ENST00000286332.5_Missense_Mutation_p.T257I|TAB2_ENST00000392282.1_Missense_Mutation_p.T257I|TAB2_ENST00000536230.1_Missense_Mutation_p.T225I			Q9NYJ8	TAB2_HUMAN	TGF-beta activated kinase 1/MAP3K7 binding protein 2	257					activation of MAPK activity (GO:0000187)|Fc-epsilon receptor signaling pathway (GO:0038095)|heart development (GO:0007507)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein kinase activity (GO:0045860)|stress-activated MAPK cascade (GO:0051403)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|endosome membrane (GO:0010008)|plasma membrane (GO:0005886)	K63-linked polyubiquitin binding (GO:0070530)|zinc ion binding (GO:0008270)			breast(2)|endometrium(6)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1)	22						GGTCCCTGGACTACTTGTCCT	0.488																																						ENST00000367456.1																			0				breast(2)|endometrium(6)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1)	22						c.(769-771)aCt>aTt		TGF-beta activated kinase 1/MAP3K7 binding protein 2							178	166	170					6																	149699821		2203	4300	6503	SO:0001583	missense	23118				activation of MAPK activity|heart development|I-kappaB kinase/NF-kappaB cascade|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane	K63-linked polyubiquitin binding|zinc ion binding	g.chr6:149699821C>T	AF241230	CCDS5214.1	6q25.1	2010-08-05	2010-02-05	2010-02-05	ENSG00000055208	ENSG00000055208			17075	protein-coding gene	gene with protein product		605101	"mitogen-activated protein kinase kinase kinase 7 interacting protein 2"	MAP3K7IP2		9872452, 10882101	Standard	XR_250046		Approved	KIAA0733	uc010kib.2	Q9NYJ8	OTTHUMG00000015783	ENST00000367456.1:c.770C>T	6.37:g.149699821C>T	ENSP00000356426:p.Thr257Ile					TAB2_ENST00000536230.1_Missense_Mutation_p.T225I|TAB2_ENST00000392282.1_Missense_Mutation_p.T257I|TAB2_ENST00000286332.5_Missense_Mutation_p.T257I|TAB2_ENST00000538427.1_Missense_Mutation_p.T257I	p.T257I			Q9NYJ8	TAB2_HUMAN			4	1347	+			257					B2RCC4|E1P5A0|O94838|Q6I9W8|Q76N06|Q9UFP7	Missense_Mutation	SNP	ENST00000367456.1	37	c.770C>T	CCDS5214.1	.	.	.	.	.	.	.	.	.	.	C	5.496	0.276540	0.10403	.	.	ENSG00000055208	ENST00000536230;ENST00000392282;ENST00000538427;ENST00000367456;ENST00000286332	T;T;T;T;T	0.72725	-0.67;-0.68;-0.67;-0.67;-0.67	5.84	5.84	0.93424	.	0.139329	0.64402	D	0.000004	T	0.44329	0.1288	N	0.08118	0	0.58432	D	0.999997	P;P	0.50617	0.937;0.937	B;B	0.42851	0.4;0.276	T	0.49390	-0.8945	10	0.27785	T	0.31	-16.6496	20.1346	0.98019	0.0:1.0:0.0:0.0	.	225;257	B4DIR9;Q9NYJ8	.;TAB2_HUMAN	I	225;257;257;257;257	ENSP00000443206:T225I;ENSP00000376106:T257I;ENSP00000445752:T257I;ENSP00000356426:T257I;ENSP00000286332:T257I	ENSP00000286332:T257I	T	+	2	0	TAB2	149741514	1.000000	0.71417	1.000000	0.80357	0.034000	0.12701	5.137000	0.64789	2.763000	0.94921	0.557000	0.71058	ACT		0.488	TAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042633.3			28	42	0	0	0	1	0	28	42					T	149699821	C	T	149699821	3	4	3	1	0	0	0	0	1	0	0	0	15493	565	20	3	776	3	TAB2	6	149699821	Missense_Mutation	SNP	C	TCGA-2A-A8VT-01A-11D-A377-08	49875898	149699821	21415246	15	85											
MACC1	346389	broad.mit.edu	37	chr7	20180754	20180754	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtgagcactccaggtatacaGaaaatcataggcaggtttcc	13	9	10	9	0	1	2	1	1	0	1	3	2	3	2	2	3	2	4	2	3	5	4			TCGA-2A-A8VT-01A-11D-A377-08	TCGA-2A-A8VT-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	517cb9af-54ec-4a7e-b093-16081dcfa7e1	076097b4-8ca9-433c-bd04-799c7e1da5f9	g.chr7:20180754G>C	ENST00000400331.5	-	7	2682	c.2374C>G	c.(2374-2376)Ctg>Gtg	p.L792V	MACC1_ENST00000589011.1_Missense_Mutation_p.L792V|MACC1_ENST00000332878.4_Missense_Mutation_p.L792V|MACC1-AS1_ENST00000439285.1_RNA	NM_182762.3	NP_877439.3	Q6ZN28	MACC1_HUMAN	metastasis associated in colon cancer 1	792					positive regulation of cell division (GO:0051781)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(1)|kidney(1)|large_intestine(15)|lung(12)|ovary(2)|prostate(1)|skin(3)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(1)	39						CAGGTATACAGAAAATCATAG	0.358																																						ENST00000400331.5																			0				endometrium(1)|kidney(1)|large_intestine(15)|lung(12)|ovary(2)|prostate(1)|skin(3)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(1)	39						c.(2374-2376)Ctg>Gtg		metastasis associated in colon cancer 1							63	66	65					7																	20180754		2203	4298	6501	SO:0001583	missense	346389				positive regulation of cell division|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	growth factor activity	g.chr7:20180754G>C		CCDS5369.1	7p15.3	2008-10-14			ENSG00000183742	ENSG00000183742			30215	protein-coding gene	gene with protein product		612646					Standard	NM_182762		Approved	7A5, SH3BP4L	uc003sus.4	Q6ZN28	OTTHUMG00000128415	ENST00000400331.5:c.2374C>G	7.37:g.20180754G>C	ENSP00000383185:p.Leu792Val					MACC1_ENST00000332878.4_Missense_Mutation_p.L792V|MACC1_ENST00000589011.1_Missense_Mutation_p.L792V	p.L792V	NM_182762.3	NP_877439.3	Q6ZN28	MACC1_HUMAN			7	2682	-			792					A8MUS5|B2RNR9|Q6ZQN8|Q7Z5A5	Missense_Mutation	SNP	ENST00000400331.5	37	c.2374C>G	CCDS5369.1	.	.	.	.	.	.	.	.	.	.	G	23.9	4.476470	0.84640	.	.	ENSG00000183742	ENST00000400331;ENST00000332878	T;T	0.59772	0.24;0.24	5.74	5.74	0.90152	.	0.000000	0.85682	D	0.000000	T	0.79185	0.4403	M	0.82056	2.57	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.80924	-0.1165	10	0.87932	D	0	-10.2468	19.9351	0.97137	0.0:0.0:1.0:0.0	.	792	Q6ZN28	MACC1_HUMAN	V	792	ENSP00000383185:L792V;ENSP00000328410:L792V	ENSP00000328410:L792V	L	-	1	2	MACC1	20147279	1.000000	0.71417	0.997000	0.53966	0.692000	0.40212	9.869000	0.99810	2.703000	0.92315	0.655000	0.94253	CTG		0.358	MACC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250202.5	NM_182762		5	30	0	0	0	1	0	5	30					C	20180754	G	C	20180754	3	2	3	1	0	0	0	0	1	0	0	0	9143	933	33	5	188	5	MACC1	7	20180754	Missense_Mutation	SNP	G	TCGA-2A-A8VT-01A-11D-A377-08		20180754	138957909	16	86											
STMN2	11075	broad.mit.edu	37	chr8	80549132	80549132	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcaacatctatacttacgatGgtgagtaacctaggatagac	14	11	8	8	1	2	2	1	1	1	1	2	4	2	3	1	2	4	1	1	2	7	6			TCGA-2A-A8VT-01A-11D-A377-08	TCGA-2A-A8VT-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	517cb9af-54ec-4a7e-b093-16081dcfa7e1	076097b4-8ca9-433c-bd04-799c7e1da5f9	g.chr8:80549132G>T	ENST00000220876.7	+	2	497	c.115G>T	c.(115-117)Gat>Tat	p.D39Y	STMN2_ENST00000518111.1_Splice_Site_p.D39Y|STMN2_ENST00000518491.1_Splice_Site_p.D28Y	NM_001199214.1|NM_007029.3	NP_001186143.1|NP_008960.2	Q93045	STMN2_HUMAN	stathmin 2	39	Regulatory/phosphorylation domain. {ECO:0000255}.|SLD. {ECO:0000255|PROSITE- ProRule:PRU00998}.				cellular response to nerve growth factor stimulus (GO:1990090)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of microtubule polymerization (GO:0031115)|negative regulation of neuron projection development (GO:0010977)|positive regulation of microtubule depolymerization (GO:0031117)|positive regulation of neuron projection development (GO:0010976)	cytoplasm (GO:0005737)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|vesicle (GO:0031982)	calcium-dependent protein binding (GO:0048306)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	11	all_lung(9;8.34e-05)		Epithelial(68;0.0229)|all cancers(69;0.0874)			TACTTACGATGGTGAGTAACC	0.398																																						ENST00000220876.7																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	11						c.e2+1		stathmin-like 2							97	88	91					8																	80549132		1911	4131	6042	SO:0001630	splice_region_variant	11075				intracellular signal transduction|negative regulation of microtubule depolymerization|negative regulation of microtubule polymerization|negative regulation of neuron projection development|neuron differentiation|positive regulation of microtubule depolymerization|positive regulation of neuron projection development	axon|growth cone|membrane|membrane fraction|perinuclear region of cytoplasm|soluble fraction	protein binding	g.chr8:80549132G>T		CCDS43748.1, CCDS56542.1	8q21.13	2014-04-01	2014-04-01	2001-07-13	ENSG00000104435	ENSG00000104435			10577	protein-coding gene	gene with protein product		600621	"stathmin-like 2"	SCGN10		8622778, 12140291	Standard	NM_007029		Approved	SCG10	uc022awk.1	Q93045	OTTHUMG00000164610	ENST00000220876.7:c.115+1G>T	8.37:g.80549132G>T						STMN2_ENST00000518491.1_Splice_Site_p.D28_splice|STMN2_ENST00000518111.1_Splice_Site_p.D39_splice	p.D39_splice	NM_001199214.1|NM_007029.3	NP_001186143.1|NP_008960.2	Q93045	STMN2_HUMAN	Epithelial(68;0.0229)|all cancers(69;0.0874)		2	497	+	all_lung(9;8.34e-05)		39			Regulatory/phosphorylation domain (Potential).		A8K9M2|G3V110|O14952|Q6PK68	Splice_Site	SNP	ENST00000220876.7	37	c.115_splice	CCDS43748.1	.	.	.	.	.	.	.	.	.	.	G	17.38	3.375727	0.61735	.	.	ENSG00000104435	ENST00000220876;ENST00000414622;ENST00000518111;ENST00000518491	.	.	.	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	D	0.85353	0.5677	M	0.88105	2.93	0.80722	D	1	D;D	0.89917	1.0;0.99	D;P	0.74348	0.983;0.9	D	0.87498	0.2431	9	0.87932	D	0	-3.1255	19.7439	0.96243	0.0:0.0:1.0:0.0	.	39;39	B7Z4K3;Q93045	.;STMN2_HUMAN	Y	39;39;39;28	.	ENSP00000220876:D39Y	D	+	1	0	STMN2	80711687	1.000000	0.71417	1.000000	0.80357	0.009000	0.06853	9.152000	0.94680	2.669000	0.90835	0.655000	0.94253	GAT		0.398	STMN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379261.2	NM_007029	Missense_Mutation	19	39	1	0	3.51602e-12	1	4.07858e-12	19	39					T	80549132	G	T	80549132	5	4	3	1	0	0	0	0	0	0	1	0	15308	1362	47	5	121	5	STMN2	8	80549132	Splice_Site	SNP	G	TCGA-2A-A8VT-01A-11D-A377-08		80549132	65814890	17	87											
RAD54B	25788	broad.mit.edu	37	chr8	95416434	95416434	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttattgaatacccactggTgattcttatctggtcgtggc	7	16	9	9	1	3	2	0	2	3	0	4	2	3	2	1	3	1	0	1	3	4	5			TCGA-2A-A8VT-01A-11D-A377-08	TCGA-2A-A8VT-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	517cb9af-54ec-4a7e-b093-16081dcfa7e1	076097b4-8ca9-433c-bd04-799c7e1da5f9	g.chr8:95416434T>C	ENST00000336148.5	-	6	939	c.815A>G	c.(814-816)cAc>cGc	p.H272R		NM_012415.3	NP_036547.1	Q9Y620	RA54B_HUMAN	RAD54 homolog B (S. cerevisiae)	272					ATP catabolic process (GO:0006200)|DNA duplex unwinding (GO:0032508)|double-strand break repair via homologous recombination (GO:0000724)|mitotic recombination (GO:0006312)|reciprocal meiotic recombination (GO:0007131)	nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|RNA helicase activity (GO:0003724)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(10)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39	Breast(36;4.5e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00217)			TACCCACTGGTGATTCTTATC	0.348								Direct reversal of damage;Homologous recombination																														ENST00000336148.5																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(10)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						c.(814-816)cAc>cGc	Direct reversal of damage;Homologous recombination	RAD54 homolog B (S. cerevisiae)							125	113	117					8																	95416434		2203	4300	6503	SO:0001583	missense	25788				double-strand break repair via homologous recombination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA translocase activity|protein binding	g.chr8:95416434T>C	AF112481	CCDS6262.1, CCDS56546.1, CCDS75768.1	8q22.1	2014-08-08			ENSG00000197275	ENSG00000197275			17228	protein-coding gene	gene with protein product		604289				10362364, 10851248	Standard	NM_012415		Approved	RDH54	uc003ygk.3	Q9Y620	OTTHUMG00000133658	ENST00000336148.5:c.815A>G	8.37:g.95416434T>C	ENSP00000336606:p.His272Arg						p.H272R	NM_012415.3	NP_036547.1	O95073	FSBP_HUMAN	BRCA - Breast invasive adenocarcinoma(8;0.00217)		6	939	-	Breast(36;4.5e-05)		0					F6WBS8	Missense_Mutation	SNP	ENST00000336148.5	37	c.815A>G	CCDS6262.1	.	.	.	.	.	.	.	.	.	.	T	20.2	3.944906	0.73672	.	.	ENSG00000197275	ENST00000336148	D	0.92805	-3.11	5.24	5.24	0.73138	.	0.000000	0.85682	D	0.000000	D	0.95548	0.8553	M	0.89968	3.075	0.80722	D	1	D	0.69078	0.997	P	0.60682	0.878	D	0.94725	0.7904	10	0.29301	T	0.29	-14.1386	11.494	0.50398	0.1342:0.0:0.0:0.8658	.	272	Q9Y620	RA54B_HUMAN	R	272	ENSP00000336606:H272R	ENSP00000336606:H272R	H	-	2	0	RAD54B	95485610	1.000000	0.71417	0.962000	0.40283	0.984000	0.73092	4.240000	0.58701	1.973000	0.57446	0.533000	0.62120	CAC		0.348	RAD54B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257806.3	NM_012415		13	57	0	0	0	1	0	13	57					C	95416434	T	C	95416434	3	2	3	1	0	0	0	0	1	0	0	0	12992	1696	59	4	1957	4	RAD54B	8	95416434	Missense_Mutation	SNP	T	TCGA-2A-A8VT-01A-11D-A377-08	14867302	95416434	50947588	18	88											
TYRP1	7306	broad.mit.edu	37	chr9	12695765	12695765	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gaaagctttggtgaagtggaTttctctcatgagggaccagc	10	11	13	7	0	2	2	1	2	1	0	3	5	2	4	1	3	2	1	1	3	2	2			TCGA-2A-A8VT-01A-11D-A377-08	TCGA-2A-A8VT-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	517cb9af-54ec-4a7e-b093-16081dcfa7e1	076097b4-8ca9-433c-bd04-799c7e1da5f9	g.chr9:12695765T>G	ENST00000388918.5	+	3	765	c.636T>G	c.(634-636)gaT>gaG	p.D212E	TYRP1_ENST00000381137.2_De_novo_Start_OutOfFrame|TYRP1_ENST00000381136.2_De_novo_Start_OutOfFrame	NM_000550.2	NP_000541.1	P17643	TYRP1_HUMAN	tyrosinase-related protein 1	212					acetoacetic acid metabolic process (GO:0043438)|melanin biosynthetic process (GO:0042438)|melanocyte differentiation (GO:0030318)|melanosome organization (GO:0032438)	clathrin-coated endocytic vesicle membrane (GO:0030669)|endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|melanosome (GO:0042470)|melanosome membrane (GO:0033162)	copper ion binding (GO:0005507)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, another compound as one donor, and incorporation of one atom of oxygen (GO:0016716)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			NS(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|stomach(1)	22		all_cancers(3;3.1e-05)|all_lung(3;1.7e-06)|Lung NSC(3;2.09e-06)|all_epithelial(3;0.000695)|all_hematologic(3;0.0033)|Acute lymphoblastic leukemia(23;0.0744)		GBM - Glioblastoma multiforme(50;9.85e-06)		GTGAAGTGGATTTCTCTCATG	0.428									Oculocutaneous Albinism																													ENST00000381137.2																			0				NS(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|stomach(1)	22								tyrosinase-related protein 1							90	92	91					9																	12695765		2203	4300	6503	SO:0001583	missense	7306	Oculocutaneous Albinism	Familial Cancer Database		melanin biosynthetic process	clathrin-coated endocytic vesicle membrane|endosome membrane|integral to membrane|melanosome membrane	copper ion binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, another compound as one donor, and incorporation of one atom of oxygen|protein heterodimerization activity|protein homodimerization activity	g.chr9:12695765T>G	L33830	CCDS34990.1	9p23	2013-01-08			ENSG00000107165	ENSG00000107165			12450	protein-coding gene	gene with protein product		115501		TYRP, CAS2		9434945	Standard	NM_000550		Approved	GP75, CATB, TRP, b-PROTEIN, OCA3	uc003zkv.4	P17643	OTTHUMG00000021034	ENST00000388918.5:c.636T>G	9.37:g.12695765T>G	ENSP00000373570:p.Asp212Glu					TYRP1_ENST00000381136.2_De_novo_Start_OutOfFrame|TYRP1_ENST00000388918.5_Missense_Mutation_p.D212E				P17643	TYRP1_HUMAN		GBM - Glioblastoma multiforme(50;9.85e-06)	0	814	+		all_cancers(3;3.1e-05)|all_lung(3;1.7e-06)|Lung NSC(3;2.09e-06)|all_epithelial(3;0.000695)|all_hematologic(3;0.0033)|Acute lymphoblastic leukemia(23;0.0744)						P78468|P78469|Q13721|Q15679	Translation_Start_Site	SNP	ENST00000388918.5	37		CCDS34990.1	.	.	.	.	.	.	.	.	.	.	T	20.5	3.996577	0.74818	.	.	ENSG00000107165	ENST00000388918	D	0.98987	-5.3	5.26	2.93	0.34026	Tyrosinase (1);Uncharacterised domain, di-copper centre (2);	0.000000	0.85682	D	0.000000	D	0.99230	0.9732	M	0.90425	3.115	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.99581	1.0973	10	0.87932	D	0	-13.8377	9.4562	0.38756	0.0:0.1443:0.0:0.8557	.	212	P17643	TYRP1_HUMAN	E	212	ENSP00000373570:D212E	ENSP00000373570:D212E	D	+	3	2	TYRP1	12685765	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	1.510000	0.35790	0.420000	0.25954	0.383000	0.25322	GAT		0.428	TYRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055502.3	NM_000550		19	27	0	0	0	1	0	19	27					G	12695765	T	G	12695765	3	3	3	1	0	0	0	0	1	0	0	0	16813	1490	52	5	642	5	TYRP1	9	12695765	Missense_Mutation	SNP	T	TCGA-2A-A8VT-01A-11D-A377-08		12695765	128517666	19	89											
GALT	2592	broad.mit.edu	37	chr9	34648844	34648844	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagacactgctgctgccccGtcggcatgtgcggcggctac	5	7	13	16	4	0	1	0	0	0	1	1	1	0	1	3	3	5	4	3	3	1	1			TCGA-2A-A8VT-01A-11D-A377-08	TCGA-2A-A8VT-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	517cb9af-54ec-4a7e-b093-16081dcfa7e1	076097b4-8ca9-433c-bd04-799c7e1da5f9	g.chr9:34648844G>A	ENST00000378842.3	+	8	815	c.773G>A	c.(772-774)cGt>cAt	p.R258H	GALT_ENST00000450095.2_Missense_Mutation_p.R149H|GALT_ENST00000556278.1_Intron|IL11RA_ENST00000555003.1_5'Flank	NM_000155.3	NP_000146.2	P07902	GALT_HUMAN	galactose-1-phosphate uridylyltransferase	258			R -> C (in GALCT).	RR -> VG (in Ref. 1; AAC83409). {ECO:0000305}.	carbohydrate metabolic process (GO:0005975)|galactose catabolic process (GO:0019388)|galactose metabolic process (GO:0006012)|small molecule metabolic process (GO:0044281)|UDP-glucose catabolic process (GO:0006258)	cytosol (GO:0005829)|Golgi apparatus (GO:0005794)	UDP-glucose:hexose-1-phosphate uridylyltransferase activity (GO:0008108)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|liver(2)|lung(5)|upper_aerodigestive_tract(1)	16	all_epithelial(49;0.102)		STAD - Stomach adenocarcinoma(86;0.178)	GBM - Glioblastoma multiforme(74;0.173)		CTGCTGCCCCGTCGGCATGTG	0.597									Galactosemia																													ENST00000378842.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|liver(2)|lung(5)|upper_aerodigestive_tract(1)	16						c.(772-774)cGt>cAt		galactose-1-phosphate uridylyltransferase							77	76	76					9																	34648844		2203	4300	6503	SO:0001583	missense	2592	Galactosemia	Familial Cancer Database	Galactose-1-Phosphate Uridyltransferase Deficiency	galactose catabolic process	cytosol	UDP-glucose:hexose-1-phosphate uridylyltransferase activity|zinc ion binding	g.chr9:34648844G>A	M60091	CCDS6565.1, CCDS59122.1	9p13	2013-01-08			ENSG00000213930	ENSG00000213930	2.7.7.12		4135	protein-coding gene	gene with protein product		606999					Standard	NM_000155		Approved		uc003zve.4	P07902	OTTHUMG00000019836	ENST00000378842.3:c.773G>A	9.37:g.34648844G>A	ENSP00000368119:p.Arg258His					GALT_ENST00000556278.1_Intron|GALT_ENST00000450095.2_Missense_Mutation_p.R149H	p.R258H	NM_000155.3	NP_000146.2	P07902	GALT_HUMAN	STAD - Stomach adenocarcinoma(86;0.178)	GBM - Glioblastoma multiforme(74;0.173)	8	815	+	all_epithelial(49;0.102)		258	RR -> VG (in Ref. 1; AAC83409).	R -> C (in GALCT).			B4E097|E7ET32|Q14355|Q14356|Q14357|Q14358|Q14359|Q14360|Q14361|Q14363|Q14364|Q14365|Q14369|Q14370|Q14371|Q14372|Q14373|Q14374|Q14375|Q14377|Q14378|Q14380|Q14381|Q14382|Q14383|Q14384|Q14385|Q14386|Q14387|Q14389|Q16766|Q53XK1|Q5VZ81|Q96BY1	Missense_Mutation	SNP	ENST00000378842.3	37	c.773G>A	CCDS6565.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.105316	0.77096	.	.	ENSG00000213930	ENST00000450095;ENST00000378842	D;D	0.99259	-5.64;-5.64	5.78	5.78	0.91487	Histidine triad motif (1);Galactose-1-phosphate uridyl transferase, C-terminal (1);Histidine triad-like motif (1);	0.157346	0.43919	U	0.000513	D	0.99083	0.9685	L	0.50993	1.605	0.80722	D	1	D;D;P	0.89917	1.0;1.0;0.766	D;D;B	0.75484	0.986;0.982;0.288	D	0.99457	1.0942	9	.	.	.	-12.2241	16.7452	0.85470	0.0:0.0:1.0:0.0	.	210;149;258	B4DT62;E7ET32;P07902	.;.;GALT_HUMAN	H	149;258	ENSP00000401956:R149H;ENSP00000368119:R258H	.	R	+	2	0	GALT	34638844	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.185000	0.94900	2.749000	0.94314	0.655000	0.94253	CGT		0.597	GALT-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052231.1	NM_000155		22	48	0	0	0	1	0	22	48					A	34648844	G	A	34648844	3	1	3	1	0	0	0	0	1	0	0	0	6230	1145	40	1	803	1	GALT	9	34648844	Missense_Mutation	SNP	G	TCGA-2A-A8VT-01A-11D-A377-08	21953079	34648844	106564587	20	90											
FAM75A6	389730	broad.mit.edu	37	chr9	43627521	43627521	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gaggtccgggcagctgtttcGagttctctcccatgttccag	5	12	12	12	2	1	0	0	0	1	0	6	2	4	0	3	2	1	5	3	2	0	3			TCGA-2A-A8VT-01A-11D-A377-08	TCGA-2A-A8VT-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	517cb9af-54ec-4a7e-b093-16081dcfa7e1	076097b4-8ca9-433c-bd04-799c7e1da5f9	g.chr9:43627521G>A	ENST00000332857.6	-	4	1194	c.1166C>T	c.(1165-1167)tCg>tTg	p.S389L	SPATA31A6_ENST00000496386.1_5'Flank	NM_001145196.1	NP_001138668.1	Q5VVP1	S31A6_HUMAN	SPATA31 subfamily A, member 6	389					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											CAGCTGTTTCGAGTTCTCTCC	0.483																																						ENST00000332857.6																			0											c.(1165-1167)tCg>tTg		SPATA31 subfamily A, member 6							1	1	1					9																	43627521		317	948	1265	SO:0001583	missense	389730							g.chr9:43627521G>A		CCDS75837.1	9p11.2	2012-10-15	2012-10-12	2012-10-12	ENSG00000185775	ENSG00000185775			32006	protein-coding gene	gene with protein product			"family with sequence similarity 75, member A6"	FAM75A6		20850414	Standard	NM_001145196		Approved	OTTHUMG00000013224	uc011lrb.2	Q5VVP1	OTTHUMG00000013224	ENST00000332857.6:c.1166C>T	9.37:g.43627521G>A	ENSP00000329825:p.Ser389Leu						p.S389L	NM_001145196.1	NP_001138668.1					4	1194	-									Missense_Mutation	SNP	ENST00000332857.6	37	c.1166C>T	CCDS47973.1	.	.	.	.	.	.	.	.	.	.	G	6.311	0.425514	0.11987	.	.	ENSG00000185775	ENST00000332857	T	0.03272	3.99	2.5	0.524	0.17066	.	1.385230	0.04713	N	0.417874	T	0.01421	0.0046	N	0.01789	-0.72	0.09310	N	1	B	0.12013	0.005	B	0.08055	0.003	T	0.44065	-0.9352	10	0.08179	T	0.78	-0.0403	2.8951	0.05688	0.159:0.0:0.5687:0.2723	.	389	Q5VVP1	F75A6_HUMAN	L	389	ENSP00000329825:S389L	ENSP00000329825:S389L	S	-	2	0	FAM75A6	43567517	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.077000	0.14738	0.124000	0.18369	0.393000	0.25936	TCG		0.483	SPATA31A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036987.1	NM_001145196		34	192	0	0	0	1	0	34	192					A	43627521	G	A	43627521	3	1	3	1	0	0	0	0	1	0	0	0	5622	1059	37	2	2869	2	FAM75A6	9	43627521	Missense_Mutation	SNP	G	TCGA-2A-A8VT-01A-11D-A377-08	8978677	43627521	97585910	21	91											
GOLM1	51280	broad.mit.edu	37	chr9	88651374	88651374	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ttgtggcacctctgtgtgtgGcaggcctgctgcctgcagcc	3	11	14	13	0	1	0	0	0	1	0	1	0	1	0	4	3	4	4	4	3	0	1			TCGA-2A-A8VT-01A-11D-A377-08	TCGA-2A-A8VT-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	517cb9af-54ec-4a7e-b093-16081dcfa7e1	076097b4-8ca9-433c-bd04-799c7e1da5f9	g.chr9:88651374G>T	ENST00000388712.3	-	7	814	c.646C>A	c.(646-648)Cca>Aca	p.P216T	GOLM1_ENST00000388711.3_Missense_Mutation_p.P216T|GOLM1_ENST00000257504.6_5'UTR	NM_016548.3	NP_057632.2	Q8NBJ4	GOLM1_HUMAN	golgi membrane protein 1	216					nucleus organization (GO:0006997)|regulation of lipid metabolic process (GO:0019216)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)				breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	17						TCTGTGTGTGGCAGGCCTGCT	0.582																																						ENST00000388712.3																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	17						c.(646-648)Cca>Aca		golgi membrane protein 1							99	86	90					9																	88651374		2203	4300	6503	SO:0001583	missense	51280					Golgi apparatus|integral to plasma membrane		g.chr9:88651374G>T	AF236056	CCDS35054.1	9q21.33	2012-12-13	2007-07-30	2007-07-30	ENSG00000135052	ENSG00000135052			15451	protein-coding gene	gene with protein product		606804	"golgi phosphoprotein 2", "chromosome 9 open reading frame 155"	GOLPH2, C9orf155		10831838, 18953438, 22542941	Standard	NM_016548		Approved	GP73, FLJ23608, bA379P1.3	uc004aol.3	Q8NBJ4	OTTHUMG00000020130	ENST00000388712.3:c.646C>A	9.37:g.88651374G>T	ENSP00000373364:p.Pro216Thr					GOLM1_ENST00000388711.3_Missense_Mutation_p.P216T|GOLM1_ENST00000257504.6_5'UTR	p.P216T	NM_016548.3	NP_057632.2	Q8NBJ4	GOLM1_HUMAN			7	814	-			216					Q6IAF4|Q9NRB9	Missense_Mutation	SNP	ENST00000388712.3	37	c.646C>A	CCDS35054.1	.	.	.	.	.	.	.	.	.	.	G	14.20	2.463707	0.43736	.	.	ENSG00000135052	ENST00000388712;ENST00000388711	T;T	0.44482	0.92;0.92	3.66	0.632	0.17705	.	0.671857	0.15489	N	0.259680	T	0.30103	0.0754	L	0.56769	1.78	0.09310	N	1	B	0.14805	0.011	B	0.14578	0.011	T	0.23440	-1.0188	10	0.15066	T	0.55	-31.8287	3.2259	0.06731	0.231:0.0:0.5629:0.2062	.	216	Q8NBJ4	GOLM1_HUMAN	T	216	ENSP00000373364:P216T;ENSP00000373363:P216T	ENSP00000373363:P216T	P	-	1	0	GOLM1	87841194	0.001000	0.12720	0.001000	0.08648	0.097000	0.18754	0.460000	0.21924	0.132000	0.18615	0.561000	0.74099	CCA		0.582	GOLM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052904.2	NM_177937		11	32	1	0	5.50884e-06	1	6.02854e-06	11	32					T	88651374	G	T	88651374	3	4	3	1	0	0	0	0	1	0	0	0	6567	1203	42	5	575	5	GOLM1	9	88651374	Missense_Mutation	SNP	G	TCGA-2A-A8VT-01A-11D-A377-08	45023853	88651374	52562057	22	92											
GALNT12	79695	broad.mit.edu	37	chr9	101608264	101608264	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctgccccatttttagtttttCgagtacacgtcccagaaaga	10	13	7	11	2	0	2	0	0	0	2	2	3	1	2	3	0	2	2	3	0	3	6			TCGA-2A-A8VT-01A-11D-A377-08	TCGA-2A-A8VT-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	517cb9af-54ec-4a7e-b093-16081dcfa7e1	076097b4-8ca9-433c-bd04-799c7e1da5f9	g.chr9:101608264C>T	ENST00000375011.3	+	9	1464	c.1464C>T	c.(1462-1464)ttC>ttT	p.F488F	RP11-92C4.3_ENST00000433997.1_RNA|RP11-92C4.3_ENST00000589257.1_RNA	NM_024642.4	NP_078918.3	Q8IXK2	GLT12_HUMAN	polypeptide N-acetylgalactosaminyltransferase 12	488	Ricin B-type lectin. {ECO:0000255|PROSITE-ProRule:PRU00174}.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			breast(1)|endometrium(2)|large_intestine(3)|lung(8)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	17		Acute lymphoblastic leukemia(62;0.0559)				TTTAGTTTTTCGAGTACACGT	0.483																																						ENST00000375011.3																			0				breast(1)|endometrium(2)|large_intestine(3)|lung(8)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	17						c.(1462-1464)ttC>ttT		UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 12 (GalNAc-T12)							71	61	65					9																	101608264		2203	4300	6503	SO:0001819	synonymous_variant	79695					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr9:101608264C>T	AB078146	CCDS6737.1	9q22.33	2014-03-13	2014-03-13		ENSG00000119514	ENSG00000119514	2.4.1.41	"Glycosyltransferase family 2 domain containing"	19877	protein-coding gene	gene with protein product	"polypeptide GalNAc transferase 12"	610290	"UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 12 (GalNAc-T12)"			12135769	Standard	NM_024642		Approved	GalNAc-T12	uc004ayz.3	Q8IXK2	OTTHUMG00000020348	ENST00000375011.3:c.1464C>T	9.37:g.101608264C>T							p.F488F	NM_024642.4	NP_078918.3	Q8IXK2	GLT12_HUMAN			9	1464	+		Acute lymphoblastic leukemia(62;0.0559)	488			Ricin B-type lectin.		Q5TCF7|Q8NG54|Q96CT9|Q9H771	Silent	SNP	ENST00000375011.3	37	c.1464C>T	CCDS6737.1																																																																																				0.483	GALNT12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053382.1	NM_024642		11	12	0	0	0	1	0	11	12					T	101608264	C	T	101608264	2	4	3	1	0	0	0	0	0	0	0	1	6210	883	31	2		2	GALNT12	9	101608264	Silent	SNP	C	TCGA-2A-A8VT-01A-11D-A377-08	12956890	101608264	39605167	23	93											
HDHD3	81932	broad.mit.edu	37	chr9	116136378	116136378	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgagcatcctggacacccGccaggtggaaggtctgcagg	8	6	14	13	1	1	1	0	1	1	0	2	3	2	3	4	5	2	2	4	5	1	0			TCGA-2A-A8VT-01A-11D-A377-08	TCGA-2A-A8VT-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	517cb9af-54ec-4a7e-b093-16081dcfa7e1	076097b4-8ca9-433c-bd04-799c7e1da5f9	g.chr9:116136378G>A	ENST00000238379.5	-	2	1154	c.257C>T	c.(256-258)gCg>gTg	p.A86V	HDHD3_ENST00000485934.1_5'UTR|HDHD3_ENST00000374180.3_Missense_Mutation_p.A86V	NM_031219.2	NP_112496.1	Q9BSH5	HDHD3_HUMAN	haloacid dehalogenase-like hydrolase domain containing 3	86						mitochondrion (GO:0005739)	hydrolase activity (GO:0016787)			large_intestine(2)|liver(1)	3						CTGGACACCCGCCAGGTGGAA	0.617																																						ENST00000238379.5																			0				large_intestine(2)|liver(1)	3						c.(256-258)gCg>gTg		haloacid dehalogenase-like hydrolase domain containing 3							51	53	53					9																	116136378		2203	4300	6503	SO:0001583	missense	81932						phosphoglycolate phosphatase activity|protein binding	g.chr9:116136378G>A	AK097067	CCDS6793.1	9q33.1	2006-04-12	2004-08-09	2004-08-12	ENSG00000119431	ENSG00000119431			28171	protein-coding gene	gene with protein product			"chromosome 9 open reading frame 158"	C9orf158		12477932	Standard	NM_031219		Approved	MGC12904	uc004bhi.1	Q9BSH5	OTTHUMG00000020524	ENST00000238379.5:c.257C>T	9.37:g.116136378G>A	ENSP00000238379:p.Ala86Val					HDHD3_ENST00000485934.1_5'UTR|HDHD3_ENST00000374180.3_Missense_Mutation_p.A86V	p.A86V	NM_031219.2	NP_112496.1	Q9BSH5	HDHD3_HUMAN			2	1154	-			86					B2RD47	Missense_Mutation	SNP	ENST00000238379.5	37	c.257C>T	CCDS6793.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.340042	0.81911	.	.	ENSG00000119431	ENST00000238379;ENST00000374180	T;T	0.05382	3.45;3.45	5.76	5.76	0.90799	Haloacid dehalogenase-like hydrolase (1);HAD-like domain (1);	0.218152	0.47455	D	0.000228	T	0.11324	0.0276	L	0.31752	0.955	0.40966	D	0.984663	D	0.76494	0.999	P	0.54965	0.765	T	0.35051	-0.9804	10	0.12766	T	0.61	-7.802	18.9453	0.92620	0.0:0.0:1.0:0.0	.	86	Q9BSH5	HDHD3_HUMAN	V	86	ENSP00000238379:A86V;ENSP00000363295:A86V	ENSP00000238379:A86V	A	-	2	0	HDHD3	115176199	0.999000	0.42202	0.921000	0.36526	0.640000	0.38277	5.977000	0.70492	2.721000	0.93114	0.655000	0.94253	GCG		0.617	HDHD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053731.1	NM_031219		15	30	0	0	0	1	0	15	30					A	116136378	G	A	116136378	3	1	3	1	0	0	0	0	1	0	0	0	7024	1087	38	1	502	1	HDHD3	9	116136378	Missense_Mutation	SNP	G	TCGA-2A-A8VT-01A-11D-A377-08	14528114	116136378	25077053	24	94											
ARHGAP12	94134	broad.mit.edu	37	chr10	32101744	32101744	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gaagaatctatgctagatacTttaaaggcttaagacaaaaa	19	10	7	5	0	1	3	0	0	1	3	1	4	1	3	0	1	2	2	0	1	10	6			TCGA-2A-A8VT-01A-11D-A377-08	TCGA-2A-A8VT-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	517cb9af-54ec-4a7e-b093-16081dcfa7e1	076097b4-8ca9-433c-bd04-799c7e1da5f9	g.chr10:32101744T>A	ENST00000344936.2	-	15	2076	c.1842A>T	c.(1840-1842)aaA>aaT	p.K614N	ARHGAP12_ENST00000375245.4_Missense_Mutation_p.K562N|ARHGAP12_ENST00000311380.4_Missense_Mutation_p.K562N|ARHGAP12_ENST00000492028.1_5'UTR|ARHGAP12_ENST00000396144.4_Missense_Mutation_p.K609N|ARHGAP12_ENST00000375250.5_Missense_Mutation_p.K584N	NM_001270697.1|NM_018287.6	NP_001257626.1|NP_060757.4	Q8IWW6	RHG12_HUMAN	Rho GTPase activating protein 12	614					morphogenesis of an epithelial sheet (GO:0002011)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)			NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(11)|lung(10)|skin(1)|urinary_tract(2)	31		Prostate(175;0.0199)				TGCTAGATACTTTAAAGGCTT	0.333																																						ENST00000375250.5																			0				NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(11)|lung(10)|skin(1)|urinary_tract(2)	31						c.(1750-1752)aaA>aaT		Rho GTPase activating protein 12							78	83	81					10																	32101744		2202	4300	6502	SO:0001583	missense	94134				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	g.chr10:32101744T>A	AY033594	CCDS7170.1, CCDS59214.1, CCDS59215.1, CCDS59216.1, CCDS73082.1	10p11.22	2013-01-10			ENSG00000165322	ENSG00000165322		"Rho GTPase activating proteins", "Pleckstrin homology (PH) domain containing"	16348	protein-coding gene	gene with protein product		610577				11854031	Standard	NM_001270695		Approved	FLJ20737, FLJ10971, FLJ21785	uc001ivz.2	Q8IWW6	OTTHUMG00000017911	ENST00000344936.2:c.1842A>T	10.37:g.32101744T>A	ENSP00000345808:p.Lys614Asn					ARHGAP12_ENST00000396144.4_Missense_Mutation_p.K609N|ARHGAP12_ENST00000311380.4_Missense_Mutation_p.K562N|ARHGAP12_ENST00000344936.2_Missense_Mutation_p.K614N|ARHGAP12_ENST00000375245.4_Missense_Mutation_p.K562N|ARHGAP12_ENST00000492028.1_5'UTR	p.K584N	NM_001270696.1	NP_001257625.1	Q8IWW6	RHG12_HUMAN			13	1993	-		Prostate(175;0.0199)	614					B1ANY0|B1ANY1|B1ANY2|Q504X1|Q86UB3|Q8IWW7|Q8N3L1|Q9NT76	Missense_Mutation	SNP	ENST00000344936.2	37	c.1752A>T	CCDS7170.1	.	.	.	.	.	.	.	.	.	.	T	21.8	4.207283	0.79240	.	.	ENSG00000165322	ENST00000311380;ENST00000375250;ENST00000344936;ENST00000396144;ENST00000375245	T;T;T;T;T	0.35048	1.33;1.33;1.33;1.33;1.33	5.74	5.74	0.90152	.	0.157374	0.64402	D	0.000019	T	0.43919	0.1269	L	0.34521	1.04	0.54753	D	0.999983	P;D;D;D;D;D	0.58620	0.871;0.97;0.983;0.97;0.97;0.983	P;P;P;P;P;P	0.62014	0.548;0.791;0.897;0.791;0.791;0.841	T	0.33979	-0.9847	10	0.46703	T	0.11	.	10.3984	0.44214	0.0:0.0727:0.0:0.9273	.	567;584;584;609;614;562	Q1RLN5;B3KR88;Q8IWW6-2;Q504X1;Q8IWW6;Q8IWW6-3	.;.;.;.;RHG12_HUMAN;.	N	562;584;614;609;562	ENSP00000310984:K562N;ENSP00000364399:K584N;ENSP00000345808:K614N;ENSP00000379448:K609N;ENSP00000364394:K562N	ENSP00000310984:K562N	K	-	3	2	ARHGAP12	32141750	1.000000	0.71417	0.994000	0.49952	0.866000	0.49608	2.910000	0.48766	2.183000	0.69458	0.533000	0.62120	AAA		0.333	ARHGAP12-009	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000047465.1			10	35	0	0	0	1	0	10	35					A	32101744	T	A	32101744	3	1	3	1	0	0	0	0	1	0	0	0	865	1606	56	5	722	5	ARHGAP12	10	32101744	Missense_Mutation	SNP	T	TCGA-2A-A8VT-01A-11D-A377-08		32101744	103433003	25	95											
C10orf71	118461	broad.mit.edu	37	chr10	50531758	50531758	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agccaaagactggcaaaaaaGggaaagaaagtctacaagat	21	4	10	6	0	1	3	0	0	1	3	1	4	1	4	1	2	2	1	1	2	8	1			TCGA-2A-A8VT-01A-11D-A377-08	TCGA-2A-A8VT-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	517cb9af-54ec-4a7e-b093-16081dcfa7e1	076097b4-8ca9-433c-bd04-799c7e1da5f9	g.chr10:50531758G>T	ENST00000374144.3	+	3	1456	c.1168G>T	c.(1168-1170)Ggg>Tgg	p.G390W	C10orf71_ENST00000323868.4_Missense_Mutation_p.G390W			Q711Q0	CJ071_HUMAN	chromosome 10 open reading frame 71	390								p.G390R(1)		endometrium(1)	1						TGGCAAAAAAGGGAAAGAAAG	0.473																																						ENST00000374144.3																			1	Substitution - Missense(1)	p.G390R(1)	skin(1)	endometrium(1)	1						c.(1168-1170)Ggg>Tgg		chromosome 10 open reading frame 71							86	89	88					10																	50531758		1872	4098	5970	SO:0001583	missense	118461							g.chr10:50531758G>T	AL833265	CCDS44387.1	10q11.23	2012-05-31			ENSG00000177354	ENSG00000177354			26973	protein-coding gene	gene with protein product							Standard	NM_001135196		Approved	FLJ45913	uc021pqa.2	Q711Q0	OTTHUMG00000018190	ENST00000374144.3:c.1168G>T	10.37:g.50531758G>T	ENSP00000363259:p.Gly390Trp					C10orf71_ENST00000323868.4_Missense_Mutation_p.G390W	p.G390W			Q711Q0	CJ071_HUMAN			3	1456	+			390					A0AVL8	Missense_Mutation	SNP	ENST00000374144.3	37	c.1168G>T	CCDS44387.1	.	.	.	.	.	.	.	.	.	.	G	10.14	1.267972	0.23136	.	.	ENSG00000177354	ENST00000323868;ENST00000374144	T;T	0.17691	2.26;3.4	5.64	1.62	0.23740	.	0.245643	0.28653	N	0.014582	T	0.32971	0.0847	L	0.59436	1.845	0.09310	N	1	D	0.76494	0.999	D	0.76575	0.988	T	0.07404	-1.0774	10	0.87932	D	0	.	9.4004	0.38428	0.4207:0.0:0.5793:0.0	.	390	Q711Q0-3	.	W	390	ENSP00000318713:G390W;ENSP00000363259:G390W	ENSP00000318713:G390W	G	+	1	0	C10orf71	50201764	0.013000	0.17824	0.009000	0.14445	0.206000	0.24218	0.240000	0.18042	0.041000	0.15688	0.655000	0.94253	GGG		0.473	C10orf71-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047984.2	NM_199459		10	33	1	0	2.17888e-05	1	2.34028e-05	10	33					T	50531758	G	T	50531758	3	4	3	1	0	0	0	0	1	0	0	0	1614	1000	35	5	1170	5	C10orf71	10	50531758	Missense_Mutation	SNP	G	TCGA-2A-A8VT-01A-11D-A377-08	18430014	50531758	85002989	26	96											
PIK3AP1	118788	broad.mit.edu	37	chr10	98386517	98386517	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tggtgagcaccaggagcagtGgtctctggtctgggcactgg	6	9	17	9	0	2	1	0	1	2	0	3	2	2	2	1	6	2	3	1	6	0	0			TCGA-2A-A8VT-01A-11D-A377-08	TCGA-2A-A8VT-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	517cb9af-54ec-4a7e-b093-16081dcfa7e1	076097b4-8ca9-433c-bd04-799c7e1da5f9	g.chr10:98386517G>A	ENST00000339364.5	-	10	1736	c.1617C>T	c.(1615-1617)acC>acT	p.T539T	PIK3AP1_ENST00000468783.1_5'Flank|PIK3AP1_ENST00000371110.2_Silent_p.T361T|PIK3AP1_ENST00000371109.3_Silent_p.T138T	NM_152309.2	NP_689522.2	Q6ZUJ8	BCAP_HUMAN	phosphoinositide-3-kinase adaptor protein 1	539					negative regulation of toll-like receptor signaling pathway (GO:0034122)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of toll-like receptor signaling pathway (GO:0034123)|regulation of inflammatory response (GO:0050727)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 7 signaling pathway (GO:0034154)|toll-like receptor 9 signaling pathway (GO:0034162)	cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	phosphatidylinositol 3-kinase regulatory subunit binding (GO:0036312)			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(27)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	52		Colorectal(252;0.0442)		Epithelial(162;6.29e-08)|all cancers(201;3.18e-06)		CAGGAGCAGTGGTCTCTGGTC	0.532																																						ENST00000339364.5																			0				NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(27)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	52						c.(1615-1617)acC>acT		phosphoinositide-3-kinase adaptor protein 1							113	103	106					10																	98386517		2203	4300	6503	SO:0001819	synonymous_variant	118788					cytoplasm|plasma membrane		g.chr10:98386517G>A	AK092883	CCDS31259.1	10q24.2	2008-10-23			ENSG00000155629	ENSG00000155629			30034	protein-coding gene	gene with protein product		607942				1251844, 11163197	Standard	NM_152309		Approved	BCAP, FLJ35564	uc001kmq.3	Q6ZUJ8	OTTHUMG00000018838	ENST00000339364.5:c.1617C>T	10.37:g.98386517G>A						PIK3AP1_ENST00000371110.2_Silent_p.T361T|PIK3AP1_ENST00000371109.3_Silent_p.T138T	p.T539T	NM_152309.2	NP_689522.2	Q6ZUJ8	BCAP_HUMAN		Epithelial(162;6.29e-08)|all cancers(201;3.18e-06)	10	1736	-		Colorectal(252;0.0442)	539					Q5TB56|Q5VXJ9|Q8N6J6|Q8NAC8	Silent	SNP	ENST00000339364.5	37	c.1617C>T	CCDS31259.1																																																																																				0.532	PIK3AP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049619.2	NM_152309		3	30	0	0	0	1	0	3	30					A	98386517	G	A	98386517	2	1	3	1	0	0	0	0	0	0	0	1	11908	1335	47	3		3	PIK3AP1	10	98386517	Silent	SNP	G	TCGA-2A-A8VT-01A-11D-A377-08	47854759	98386517	37148230	27	97											
E2F8	79733	broad.mit.edu	37	chr11	19252363	19252363	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaaatcagagggagtaaaaTgaatgactgggctggagcct	14	7	13	7	0	1	3	1	2	0	1	1	5	1	5	2	3	1	2	2	3	4	1			TCGA-2A-A8VT-01A-11D-A377-08	TCGA-2A-A8VT-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	517cb9af-54ec-4a7e-b093-16081dcfa7e1	076097b4-8ca9-433c-bd04-799c7e1da5f9	g.chr11:19252363T>C	ENST00000527884.1	-	8	1317	c.1085A>G	c.(1084-1086)cAt>cGt	p.H362R	E2F8_ENST00000250024.4_Missense_Mutation_p.H362R|RP11-428C19.4_ENST00000527978.1_RNA	NM_001256371.1|NM_001256372.1	NP_001243300.1|NP_001243301.1	A0AVK6	E2F8_HUMAN	E2F transcription factor 8	362					cell cycle comprising mitosis without cytokinesis (GO:0033301)|chorionic trophoblast cell differentiation (GO:0060718)|hepatocyte differentiation (GO:0070365)|negative regulation of cytokinesis (GO:0032466)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|placenta development (GO:0001890)|positive regulation of DNA endoreduplication (GO:0032877)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|sprouting angiogenesis (GO:0002040)|trophoblast giant cell differentiation (GO:0060707)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	core promoter binding (GO:0001047)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						GGGAGTAAAATGAATGACTGG	0.418																																						ENST00000527884.1																			0				breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						c.(1084-1086)cAt>cGt		E2F transcription factor 8							53	53	53					11																	19252363		2199	4293	6492	SO:0001583	missense	79733				cell cycle	transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr11:19252363T>C		CCDS7849.1	11p15	2008-02-05			ENSG00000129173	ENSG00000129173			24727	protein-coding gene	gene with protein product		612047				15722552	Standard	NM_024680		Approved	FLJ23311	uc001mpo.2	A0AVK6	OTTHUMG00000166102	ENST00000527884.1:c.1085A>G	11.37:g.19252363T>C	ENSP00000434199:p.His362Arg					E2F8_ENST00000250024.4_Missense_Mutation_p.H362R|RP11-428C19.4_ENST00000527978.1_RNA	p.H362R	NM_001256371.1|NM_001256372.1	NP_001243300.1|NP_001243301.1	A0AVK6	E2F8_HUMAN			8	1317	-			362					A8K9H3|Q2VPJ3|Q3C1U6|Q5BKY4|Q8N340|Q9H5M0	Missense_Mutation	SNP	ENST00000527884.1	37	c.1085A>G	CCDS7849.1	.	.	.	.	.	.	.	.	.	.	T	4.746	0.138711	0.09083	.	.	ENSG00000129173	ENST00000527884;ENST00000396159;ENST00000250024	T;T	0.16196	2.36;2.36	5.76	3.89	0.44902	.	0.502594	0.22532	N	0.058821	T	0.09291	0.0229	N	0.08118	0	0.09310	N	1	B	0.14805	0.011	B	0.15870	0.014	T	0.28459	-1.0043	10	0.17832	T	0.49	-1.0231	14.3515	0.66705	0.0:0.0:0.7287:0.2713	.	362	A0AVK6	E2F8_HUMAN	R	362	ENSP00000434199:H362R;ENSP00000250024:H362R	ENSP00000250024:H362R	H	-	2	0	E2F8	19208939	0.362000	0.24980	0.007000	0.13788	0.001000	0.01503	3.129000	0.50500	0.773000	0.33404	-0.860000	0.03012	CAT		0.418	E2F8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387830.1	NM_024680		9	27	0	0	0	1	0	9	27					C	19252363	T	C	19252363	3	2	3	1	0	0	0	0	1	0	0	0	4873	1464	51	4	1542	4	E2F8	11	19252363	Missense_Mutation	SNP	T	TCGA-2A-A8VT-01A-11D-A377-08		19252363	115754153	28	98											
PAX6	5080	broad.mit.edu	37	chr11	31815069	31815069	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgtgagggctgtgtctgttcGgcccaacatggagccagatg	7	10	15	9	1	1	2	0	1	1	1	2	3	1	3	2	3	2	2	2	3	1	1			TCGA-2A-A8VT-01A-11D-A377-08	TCGA-2A-A8VT-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	517cb9af-54ec-4a7e-b093-16081dcfa7e1	076097b4-8ca9-433c-bd04-799c7e1da5f9	g.chr11:31815069G>A	ENST00000379132.3	-	10	1229	c.949C>T	c.(949-951)Cga>Tga	p.R317*	PAX6_ENST00000379111.2_Nonsense_Mutation_p.R317*|PAX6_ENST00000379123.5_Nonsense_Mutation_p.R317*|PAX6_ENST00000379129.2_Nonsense_Mutation_p.R331*|PAX6_ENST00000419022.1_Nonsense_Mutation_p.R331*|PAX6_ENST00000379107.2_Nonsense_Mutation_p.R331*|PAX6_ENST00000241001.8_Nonsense_Mutation_p.R317*|PAX6_ENST00000379115.4_Nonsense_Mutation_p.R331*			P26367	PAX6_HUMAN	paired box 6	317	Pro/Ser/Thr-rich.			R -> L (in Ref. 1; AAA59962). {ECO:0000305}.	astrocyte differentiation (GO:0048708)|axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell fate determination (GO:0001709)|central nervous system development (GO:0007417)|cerebral cortex regionalization (GO:0021796)|commitment of neuronal cell to specific neuron type in forebrain (GO:0021902)|cornea development in camera-type eye (GO:0061303)|dorsal/ventral axis specification (GO:0009950)|embryonic camera-type eye morphogenesis (GO:0048596)|eye development (GO:0001654)|eye photoreceptor cell development (GO:0042462)|forebrain anterior/posterior pattern specification (GO:0021797)|forebrain dorsal/ventral pattern formation (GO:0021798)|forebrain-midbrain boundary formation (GO:0021905)|glucose homeostasis (GO:0042593)|hindbrain development (GO:0030902)|iris morphogenesis (GO:0061072)|keratinocyte differentiation (GO:0030216)|lacrimal gland development (GO:0032808)|lens development in camera-type eye (GO:0002088)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of neurogenesis (GO:0050768)|negative regulation of neuron differentiation (GO:0045665)|neuron fate commitment (GO:0048663)|neuron migration (GO:0001764)|oligodendrocyte cell fate specification (GO:0021778)|organ morphogenesis (GO:0009887)|pancreatic A cell development (GO:0003322)|pituitary gland development (GO:0021983)|positive regulation of cell fate specification (GO:0042660)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of gene expression (GO:0010628)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein localization to organelle (GO:0033365)|protein ubiquitination (GO:0016567)|regulation of cell migration (GO:0030334)|regulation of timing of cell differentiation (GO:0048505)|regulation of transcription from RNA polymerase II promoter involved in somatic motor neuron fate commitment (GO:0021918)|regulation of transcription from RNA polymerase II promoter involved in spinal cord motor neuron fate specification (GO:0021912)|regulation of transcription from RNA polymerase II promoter involved in ventral spinal cord interneuron specification (GO:0021913)|response to wounding (GO:0009611)|retina development in camera-type eye (GO:0060041)|salivary gland morphogenesis (GO:0007435)|signal transduction involved in regulation of gene expression (GO:0023019)|smoothened signaling pathway (GO:0007224)|transcription from RNA polymerase II promoter (GO:0006366)|type B pancreatic cell differentiation (GO:0003309)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	AT DNA binding (GO:0003680)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|histone acetyltransferase binding (GO:0035035)|protein kinase binding (GO:0019901)|R-SMAD binding (GO:0070412)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|ubiquitin-protein transferase activity (GO:0004842)			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(2)	35	Lung SC(675;0.225)					GTGTCTGTTCGGCCCAACATG	0.532									Wilms' tumor-Aniridia-ambiguous Genitals-mental Retardation																													ENST00000419022.1																			0				central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(2)	35	GRCh37	CM930573	PAX6	M		c.(991-993)Cga>Tga		paired box 6							130	133	132					11																	31815069		2202	4299	6501	SO:0001587	stop_gained	5080	Wilms' tumor-Aniridia-ambiguous Genitals-mental Retardation	Familial Cancer Database	WAGR syndrome	blood vessel development|central nervous system development|cornea development in camera-type eye|glucose homeostasis|iris morphogenesis|negative regulation of neurogenesis|neuron fate commitment|pancreatic A cell development|positive regulation of transcription, DNA-dependent|response to wounding|visual perception	cytoplasm|nuclear chromatin	R-SMAD binding|RNA polymerase II core promoter sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity|ubiquitin-protein ligase activity	g.chr11:31815069G>A	AY707088	CCDS31451.1, CCDS31452.1	11p13	2014-09-17	2007-07-12		ENSG00000007372	ENSG00000007372		"Paired boxes", "Homeoboxes / PRD class"	8620	protein-coding gene	gene with protein product	"aniridia, keratitis"	607108	"paired box gene 6 (aniridia, keratitis)"	AN2		1302030	Standard	NM_001127612		Approved	D11S812E, AN, WAGR	uc021qfm.1	P26367	OTTHUMG00000041447	ENST00000379132.3:c.949C>T	11.37:g.31815069G>A	ENSP00000368427:p.Arg317*					PAX6_ENST00000379129.2_Nonsense_Mutation_p.R331*|PAX6_ENST00000379111.2_Nonsense_Mutation_p.R317*|PAX6_ENST00000379115.4_Nonsense_Mutation_p.R331*|PAX6_ENST00000379123.5_Nonsense_Mutation_p.R317*|PAX6_ENST00000379132.3_Nonsense_Mutation_p.R317*|PAX6_ENST00000379107.2_Nonsense_Mutation_p.R331*|PAX6_ENST00000241001.8_Nonsense_Mutation_p.R317*	p.R331*	NM_001127612.1|NM_001258462.1|NM_001258463.1	NP_001121084.1|NP_001245391.1|NP_001245392.1	P26367	PAX6_HUMAN			12	1459	-	Lung SC(675;0.225)		317			Pro/Ser/Thr-rich.		Q6N006|Q99413	Nonsense_Mutation	SNP	ENST00000379132.3	37	c.991C>T	CCDS31451.1	.	.	.	.	.	.	.	.	.	.	G	39	7.560442	0.98358	.	.	ENSG00000007372	ENST00000419022;ENST00000379132;ENST00000379129;ENST00000531633;ENST00000379107;ENST00000464174;ENST00000241001;ENST00000379115;ENST00000379111;ENST00000379123;ENST00000494377;ENST00000470027;ENST00000379109;ENST00000533333;ENST00000530373	.	.	.	5.77	4.8	0.61643	.	0.209907	0.47093	D	0.000241	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.11182	T	0.66	.	12.1119	0.53844	0.0:0.0:0.6686:0.3314	.	.	.	.	X	331;317;331;146;331;116;317;331;317;317;181;181;317;272;116	.	ENSP00000241001:R317X	R	-	1	2	PAX6	31771645	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.321000	0.59209	2.698000	0.92095	0.643000	0.83706	CGA		0.532	PAX6-008	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000099293.4	NM_001604		11	33	0	0	0	1	0	11	33					A	31815069	G	A	31815069	4	1	3	1	0	0	0	0	0	1	0	0	11483	1124	39	2	331	2	PAX6	11	31815069	Nonsense_Mutation	SNP	G	TCGA-2A-A8VT-01A-11D-A377-08	12562706	31815069	103191447	29	99											
OR4C13	283092	broad.mit.edu	37	chr11	49974310	49974310	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agaggtgttgaggtcatcctActtactgtaatggcctatga	10	13	11	7	0	1	3	1	2	0	1	2	3	2	3	2	3	2	2	2	3	4	5			TCGA-2A-A8VT-01A-11D-A377-08	TCGA-2A-A8VT-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	517cb9af-54ec-4a7e-b093-16081dcfa7e1	076097b4-8ca9-433c-bd04-799c7e1da5f9	g.chr11:49974310A>C	ENST00000555099.1	+	1	368	c.336A>C	c.(334-336)ctA>ctC	p.L112L		NM_001001955.2	NP_001001955.2	Q8NGP0	OR4CD_HUMAN	olfactory receptor, family 4, subfamily C, member 13	112						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	43						AGGTCATCCTACTTACTGTAA	0.428																																						ENST00000555099.1																			0				autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	43						c.(334-336)ctA>ctC		olfactory receptor, family 4, subfamily C, member 13							110	105	107					11																	49974310		2201	4296	6497	SO:0001819	synonymous_variant	283092				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:49974310A>C	AB065750	CCDS31495.1	11p11.12	2012-10-03			ENSG00000258817	ENSG00000258817		"GPCR / Class A : Olfactory receptors"	15169	protein-coding gene	gene with protein product							Standard	NM_001001955		Approved		uc010rhz.2	Q8NGP0	OTTHUMG00000166686	ENST00000555099.1:c.336A>C	11.37:g.49974310A>C							p.L112L	NM_001001955.2	NP_001001955.2	Q8NGP0	OR4CD_HUMAN			1	368	+			112					A6NJJ3|B9EH30|Q6IF48|Q96R68	Silent	SNP	ENST00000555099.1	37	c.336A>C	CCDS31495.1																																																																																				0.428	OR4C13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391103.1	NM_001001955		4	58	0	0	0	1	0	4	58					C	49974310	A	C	49974310	2	2	3	1	0	0	0	0	0	0	0	1	11047	378	14	5		5	OR4C13	11	49974310	Silent	SNP	A	TCGA-2A-A8VT-01A-11D-A377-08	18159241	49974310	85032206	30	100											
DAK	26007	broad.mit.edu	37	chr11	61110228	61110228	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgtcatgtctacccgcaggCtcctcagttgtgatgatggt	6	13	12	10	1	3	2	2	2	1	0	4	2	4	2	2	2	1	3	2	2	1	2			TCGA-2A-A8VT-01A-11D-A377-08	TCGA-2A-A8VT-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	517cb9af-54ec-4a7e-b093-16081dcfa7e1	076097b4-8ca9-433c-bd04-799c7e1da5f9	g.chr11:61110228C>A	ENST00000394900.3	+	10	1006	c.777C>A	c.(775-777)ggC>ggA	p.G259G		NM_015533.3	NP_056348.2	Q3LXA3	DHAK_HUMAN	dihydroxyacetone kinase 2 homolog (S. cerevisiae)	259	DhaK. {ECO:0000255|PROSITE- ProRule:PRU00814}.				carbohydrate phosphorylation (GO:0046835)|cellular carbohydrate metabolic process (GO:0044262)|glycerol metabolic process (GO:0006071)|innate immune response (GO:0045087)|regulation of innate immune response (GO:0045088)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|FAD-AMP lyase (cyclizing) activity (GO:0034012)|glycerone kinase activity (GO:0004371)|metal ion binding (GO:0046872)|triokinase activity (GO:0050354)			NS(1)|breast(3)|endometrium(3)|large_intestine(5)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	23						TACCCGCAGGCTCCTCAGTTG	0.627																																						ENST00000394900.3																			0				NS(1)|breast(3)|endometrium(3)|large_intestine(5)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	23						c.e10-1		dihydroxyacetone kinase 2 homolog (S. cerevisiae)							70	72	71					11																	61110228		2203	4299	6502	SO:0001630	splice_region_variant	26007				glycerol metabolic process	cytosol	ATP binding|FAD-AMP lyase (cyclizing) activity|glycerone kinase activity|metal ion binding	g.chr11:61110228C>A		CCDS8003.1	11q12.2	2009-11-06	2006-04-04		ENSG00000149476	ENSG00000149476			24552	protein-coding gene	gene with protein product		615844	"dihydroxyacetone kinase 2 homolog (yeast)"				Standard	XM_005273898		Approved	DKFZP586B1621, NET45	uc001nre.3	Q3LXA3	OTTHUMG00000168076	ENST00000394900.3:c.776-1C>A	11.37:g.61110228C>A							p.G259_splice	NM_015533.3	NP_056348.2	Q3LXA3	DHAK_HUMAN			10	1006	+			259			DhaK.		Q2L9C1|Q53EQ9|Q9BVA7|Q9H895	Splice_Site	SNP	ENST00000394900.3	37	c.775_splice	CCDS8003.1																																																																																				0.627	DAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394425.4	NM_015533	Silent	14	23	1	0	0.00244969	1	0.00253718	14	23					A	61110228	C	A	61110228	5	1	3	1	0	0	0	0	0	0	1	0	4228	811	28	5	811	5	DAK	11	61110228	Splice_Site	SNP	C	TCGA-2A-A8VT-01A-11D-A377-08	11135918	61110228	73896288	31	101											
AHNAK	79026	broad.mit.edu	37	chr11	62284330	62284330	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacttcttagaggccagggaCaccccactcccctgtaactt	9	9	8	15	0	1	1	0	0	1	1	2	3	2	2	5	2	1	1	5	2	2	4			TCGA-2A-A8VT-01A-11D-A377-08	TCGA-2A-A8VT-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	517cb9af-54ec-4a7e-b093-16081dcfa7e1	076097b4-8ca9-433c-bd04-799c7e1da5f9	g.chr11:62284330C>A	ENST00000378024.4	-	5	17833	c.17559G>T	c.(17557-17559)gtG>gtT	p.V5853V	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000525875.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	5853					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				AGGCCAGGGACACCCCACTCC	0.522																																						ENST00000378024.4																			0				NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268						c.(17557-17559)gtG>gtT		AHNAK nucleoprotein							203	177	186					11																	62284330		2202	4299	6501	SO:0001819	synonymous_variant	79026				nervous system development	nucleus	protein binding	g.chr11:62284330C>A	M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"desmoyokin"	103390	"AHNAK nucleoprotein (desmoyokin)"			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.17559G>T	11.37:g.62284330C>A						AHNAK_ENST00000525875.1_Intron|AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	p.V5853V	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN			5	17833	-		Melanoma(852;0.155)	5853					A1A586	Silent	SNP	ENST00000378024.4	37	c.17559G>T	CCDS31584.1																																																																																				0.522	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060		35	69	1	0	6.29468e-14	1	7.45085e-14	35	69					A	62284330	C	A	62284330	2	1	3	1	0	0	0	0	0	0	0	1	414	465	17	5		5	AHNAK	11	62284330	Silent	SNP	C	TCGA-2A-A8VT-01A-11D-A377-08	1174102	62284330	72722186	32	102											
HNRNPA1	3178	broad.mit.edu	37	chr12	54675192	54675192	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctaaagagcccgaacagcTgaggaagctcttcattggag	12	8	11	10	1	2	2	1	1	1	1	3	5	3	4	2	2	4	2	2	2	4	3			TCGA-2A-A8VT-01A-11D-A377-08	TCGA-2A-A8VT-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	517cb9af-54ec-4a7e-b093-16081dcfa7e1	076097b4-8ca9-433c-bd04-799c7e1da5f9	g.chr12:54675192T>C	ENST00000340913.6	+	2	91	c.38T>C	c.(37-39)cTg>cCg	p.L13P	HNRNPA1_ENST00000547276.1_Missense_Mutation_p.L13P|CBX5_ENST00000209875.4_5'Flank|RP11-968A15.2_ENST00000547177.1_RNA|RP11-968A15.8_ENST00000553061.1_RNA|HNRNPA1_ENST00000330752.8_Missense_Mutation_p.L13P|HNRNPA1_ENST00000546500.1_Missense_Mutation_p.L13P	NM_002136.2|NM_031157.2	NP_002127.1|NP_112420.1	P09651	ROA1_HUMAN	heterogeneous nuclear ribonucleoprotein A1	13	Globular A domain.				cell death (GO:0008219)|gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|mRNA transport (GO:0051028)|nuclear export (GO:0051168)|nuclear import (GO:0051170)|RNA export from nucleus (GO:0006405)|RNA splicing (GO:0008380)|viral process (GO:0016032)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)|single-stranded RNA binding (GO:0003727)			endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	20						CCCGAACAGCTGAGGAAGCTC	0.483																																					Colon(83;502 1289 8436 16406 24870)	ENST00000546500.1																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	20						c.(37-39)cTg>cCg		heterogeneous nuclear ribonucleoprotein A1							70	73	72					12																	54675192		1941	4178	6119	SO:0001583	missense	3178				interspecies interaction between organisms|mRNA transport|nuclear import	catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleolus|nucleoplasm	nucleotide binding|protein binding|single-stranded DNA binding	g.chr12:54675192T>C	BC009600	CCDS41793.1, CCDS44909.1	12q13.1	2013-10-11		2007-08-16	ENSG00000135486	ENSG00000135486		"RNA binding motif (RRM) containing"	5031	protein-coding gene	gene with protein product		164017		HNRPA1		1733858	Standard	XR_245923		Approved	hnRNPA1, hnRNP-A1	uc001sfl.3	P09651		ENST00000340913.6:c.38T>C	12.37:g.54675192T>C	ENSP00000341826:p.Leu13Pro					HNRNPA1_ENST00000330752.8_Missense_Mutation_p.L13P|RP11-968A15.8_ENST00000553061.1_RNA|HNRNPA1_ENST00000547276.1_Missense_Mutation_p.L13P|HNRNPA1_ENST00000340913.6_Missense_Mutation_p.L13P	p.L13P			P09651	ROA1_HUMAN			2	653	+			13			Globular A domain.		A8K4Z8|Q3MIB7|Q6PJZ7	Missense_Mutation	SNP	ENST00000340913.6	37	c.38T>C	CCDS44909.1	.	.	.	.	.	.	.	.	.	.	T	17.58	3.425919	0.62733	.	.	ENSG00000135486	ENST00000546500;ENST00000547708;ENST00000547617;ENST00000552494;ENST00000340913;ENST00000330752;ENST00000552591;ENST00000551702;ENST00000551133;ENST00000547276;ENST00000548688	D;D;D;D;D;D;D	0.91464	-2.85;-2.85;-2.85;-2.85;-2.85;-2.85;-2.85	4.43	4.43	0.53597	.	0.000000	0.42821	D	0.000645	D	0.90307	0.6968	L	0.31664	0.95	0.80722	D	1	P;D;D;B;D;D	0.65815	0.928;0.989;0.995;0.051;0.989;0.993	P;P;P;B;P;P	0.59643	0.668;0.861;0.837;0.111;0.861;0.796	D	0.91206	0.4995	10	0.72032	D	0.01	.	12.293	0.54829	0.0:0.0:0.0:1.0	.	13;13;13;13;13;13	F8VRQ1;F8W6I7;F8VSB5;P09651-3;P09651-2;P09651	.;.;.;.;.;ROA1_HUMAN	P	13;13;13;13;13;13;13;13;13;13;32	ENSP00000448617:L13P;ENSP00000448229:L13P;ENSP00000341826:L13P;ENSP00000333504:L13P;ENSP00000448117:L13P;ENSP00000447260:L13P;ENSP00000447782:L32P	ENSP00000333504:L13P	L	+	2	0	HNRNPA1	52961459	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	7.949000	0.87791	1.951000	0.56629	0.402000	0.26972	CTG		0.483	HNRNPA1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000405480.1	NM_031157		18	26	0	0	0	1	0	18	26					C	54675192	T	C	54675192	3	2	3	1	0	0	0	0	1	0	0	0	7257	1580	55	4	44	4	HNRNPA1	12	54675192	Missense_Mutation	SNP	T	TCGA-2A-A8VT-01A-11D-A377-08		54675192	79176703	33	103											
GOLGA3	2802	broad.mit.edu	37	chr12	133353579	133353579	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggctgtttgctgagctgctCgtccagctgcttctgcagga	4	12	14	11	1	1	1	0	1	1	0	3	2	2	2	1	2	6	8	1	2	0	2			TCGA-2A-A8VT-01A-11D-A377-08	TCGA-2A-A8VT-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	517cb9af-54ec-4a7e-b093-16081dcfa7e1	076097b4-8ca9-433c-bd04-799c7e1da5f9	g.chr12:133353579C>A	ENST00000450791.2	-	19	4003	c.3820G>T	c.(3820-3822)Gag>Tag	p.E1274*	GOLGA3_ENST00000456883.2_Nonsense_Mutation_p.E1274*|GOLGA3_ENST00000204726.3_Nonsense_Mutation_p.E1274*			Q08378	GOGA3_HUMAN	golgin A3	1274	Gln-rich.				intra-Golgi vesicle-mediated transport (GO:0006891)	cytosol (GO:0005829)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extrinsic component of Golgi membrane (GO:0090498)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi transport complex (GO:0017119)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	transporter activity (GO:0005215)			breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06)		CTGAGCTGCTCGTCCAGCTGC	0.622																																						ENST00000204726.3																			0				breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						c.(3820-3822)Gag>Tag		golgin A3							58	50	53					12																	133353579		2203	4300	6503	SO:0001587	stop_gained	2802				intra-Golgi vesicle-mediated transport	Golgi cisterna membrane|Golgi transport complex	protein binding|transporter activity	g.chr12:133353579C>A	AF485338	CCDS9281.1, CCDS53846.1	12q24.33	2010-02-12	2010-02-12		ENSG00000090615	ENSG00000090615			4426	protein-coding gene	gene with protein product	"SY2/SY10 protein", "Golgi complex-associated protein of 170 kD"	602581	"golgi autoantigen, golgin subfamily a, 3"			8315394, 15829563	Standard	NM_001172557		Approved	golgin-160, GCP170, MEA-2	uc001ukz.1	Q08378	OTTHUMG00000168023	ENST00000450791.2:c.3820G>T	12.37:g.133353579C>A	ENSP00000410378:p.Glu1274*					GOLGA3_ENST00000456883.2_Nonsense_Mutation_p.E1274*|GOLGA3_ENST00000450791.2_Nonsense_Mutation_p.E1274*	p.E1274*	NM_005895.3	NP_005886.2	Q08378	GOGA3_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06)	20	4378	-	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)	1274			Gln-rich.		A5PKX6|O43241|Q6P9C7|Q86XW3|Q8TDA9|Q8WZA3	Nonsense_Mutation	SNP	ENST00000450791.2	37	c.3820G>T	CCDS9281.1	.	.	.	.	.	.	.	.	.	.	C	48	14.615130	0.99803	.	.	ENSG00000090615	ENST00000204726;ENST00000450791;ENST00000456883	.	.	.	5.75	4.87	0.63330	.	0.190928	0.56097	D	0.000040	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.52906	T	0.07	.	14.7624	0.69614	0.0:0.9307:0.0:0.0693	.	.	.	.	X	1274	.	ENSP00000204726:E1274X	E	-	1	0	GOLGA3	131863652	0.998000	0.40836	0.937000	0.37676	0.962000	0.63368	4.059000	0.57470	1.447000	0.47661	0.650000	0.86243	GAG		0.622	GOLGA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397569.2	NM_005895		13	9	1	0	2.27111e-07	1	2.58283e-07	13	9					A	133353579	C	A	133353579	4	1	3	1	0	0	0	0	0	1	0	0	6554	893	31	5	696	5	GOLGA3	12	133353579	Nonsense_Mutation	SNP	C	TCGA-2A-A8VT-01A-11D-A377-08	78678387	133353579	498316	34	104											
ANXA2	302	broad.mit.edu	37	chr15	60641330	60641330	+	Nonsense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgaattcagacctaatttTcaacatgtccacttcactgc	11	14	4	12	0	3	2	3	1	0	1	4	2	4	2	2	0	2	0	2	0	3	6			TCGA-2A-A8VT-01A-11D-A377-08	TCGA-2A-A8VT-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	517cb9af-54ec-4a7e-b093-16081dcfa7e1	076097b4-8ca9-433c-bd04-799c7e1da5f9	g.chr15:60641330T>A	ENST00000396024.3	-	13	1063	c.904A>T	c.(904-906)Aaa>Taa	p.K302*	ANXA2_ENST00000421017.2_Nonsense_Mutation_p.K302*|ANXA2_ENST00000332680.4_Nonsense_Mutation_p.K320*|ANXA2_ENST00000451270.2_Nonsense_Mutation_p.K302*	NM_001136015.2	NP_001129487.1	P07355	ANXA2_HUMAN	annexin A2	302					angiogenesis (GO:0001525)|body fluid secretion (GO:0007589)|cellular response to acid chemical (GO:0071229)|collagen fibril organization (GO:0030199)|fibrinolysis (GO:0042730)|membrane budding (GO:0006900)|membrane raft assembly (GO:0001765)|negative regulation of catalytic activity (GO:0043086)|osteoclast development (GO:0036035)|positive regulation of binding (GO:0051099)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of vesicle fusion (GO:0031340)|protein heterotetramerization (GO:0051290)|protein targeting to plasma membrane (GO:0072661)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell surface (GO:0009986)|early endosome (GO:0005769)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of plasma membrane (GO:0019897)|late endosome membrane (GO:0031902)|lipid particle (GO:0005811)|lysosomal membrane (GO:0005765)|macropinosome (GO:0044354)|membrane (GO:0016020)|midbody (GO:0030496)|myelin sheath adaxonal region (GO:0035749)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ruffle (GO:0001726)|sarcolemma (GO:0042383)|Schmidt-Lanterman incisure (GO:0043220)|vesicle (GO:0031982)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|calcium-dependent protein binding (GO:0048306)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phospholipase A2 inhibitor activity (GO:0019834)|poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)			kidney(1)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)	9					Tenecteplase(DB00031)	GACCTAATTTTCAACATGTCC	0.483																																						ENST00000396024.3																			0				kidney(1)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)	9						c.(904-906)Aaa>Taa		annexin A2	Alteplase(DB00009)|Anistreplase(DB00029)|Tenecteplase(DB00031)						80	70	73					15																	60641330		2203	4297	6500	SO:0001587	stop_gained	302				angiogenesis|positive regulation of vesicle fusion|skeletal system development	basement membrane|melanosome|midbody|soluble fraction	calcium ion binding|calcium-dependent phospholipid binding|cytoskeletal protein binding|phospholipase inhibitor activity	g.chr15:60641330T>A	D00017	CCDS10175.1, CCDS32256.1	15q22.2	2012-10-02			ENSG00000182718	ENSG00000182718		"Annexins"	537	protein-coding gene	gene with protein product	"annexin II"	151740		ANX2, ANX2L4, CAL1H, LPC2D		7961821	Standard	NM_001136015		Approved	LIP2	uc002agm.3	P07355	OTTHUMG00000132763	ENST00000396024.3:c.904A>T	15.37:g.60641330T>A	ENSP00000379342:p.Lys302*					ANXA2_ENST00000332680.4_Nonsense_Mutation_p.K320*|ANXA2_ENST00000451270.2_Nonsense_Mutation_p.K302*|ANXA2_ENST00000421017.2_Nonsense_Mutation_p.K302*	p.K302*	NM_001136015.2	NP_001129487.1	P07355	ANXA2_HUMAN			13	1063	-			302					Q567R4|Q6N0B3|Q8TBV2|Q96DD5|Q9UDH8	Nonsense_Mutation	SNP	ENST00000396024.3	37	c.904A>T	CCDS10175.1	.	.	.	.	.	.	.	.	.	.	T	38	6.710530	0.97780	.	.	ENSG00000182718	ENST00000396024;ENST00000332680;ENST00000421017;ENST00000451270	.	.	.	5.61	5.61	0.85477	.	0.000000	0.85682	U	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.39692	T	0.17	.	14.785	0.69796	0.0:0.0:0.0:1.0	.	.	.	.	X	302;320;302;302	.	ENSP00000346032:K320X	K	-	1	0	ANXA2	58428622	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.302000	0.78861	2.143000	0.66587	0.533000	0.62120	AAA		0.483	ANXA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256135.1	NM_001002857		3	30	0	0	0	1	0	3	30					A	60641330	T	A	60641330	4	1	3	1	0	0	0	0	0	1	0	0	718	1792	62	5	123	5	ANXA2	15	60641330	Nonsense_Mutation	SNP	T	TCGA-2A-A8VT-01A-11D-A377-08		60641330	41890062	35	105											
MYH11	4629	broad.mit.edu	37	chr16	15833981	15833981	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttgatcttggcctcagccGtgaccttctcaagttgcagc	6	13	9	13	1	4	2	2	2	3	0	5	2	4	2	3	1	3	2	3	1	1	4			TCGA-2A-A8VT-01A-11D-A377-08	TCGA-2A-A8VT-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	517cb9af-54ec-4a7e-b093-16081dcfa7e1	076097b4-8ca9-433c-bd04-799c7e1da5f9	g.chr16:15833981G>A	ENST00000300036.5	-	23	3033	c.2924C>T	c.(2923-2925)aCg>aTg	p.T975M	MYH11_ENST00000452625.2_Missense_Mutation_p.T982M|AF001548.6_ENST00000577048.1_RNA|MYH11_ENST00000396324.3_Missense_Mutation_p.T982M|MYH11_ENST00000576790.2_Missense_Mutation_p.T975M	NM_002474.2	NP_002465.1	P35749	MYH11_HUMAN	myosin, heavy chain 11, smooth muscle	975					axon guidance (GO:0007411)|cardiac muscle fiber development (GO:0048739)|elastic fiber assembly (GO:0048251)|muscle contraction (GO:0006936)|skeletal muscle myosin thick filament assembly (GO:0030241)|smooth muscle contraction (GO:0006939)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|smooth muscle contractile fiber (GO:0030485)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|motor activity (GO:0003774)|structural constituent of muscle (GO:0008307)	p.T975M(1)		NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						GGCCTCAGCCGTGACCTTCTC	0.502			T	CBFB	AML																																	ENST00000338282.6				Dom	yes		16	16p13.13-p13.12	4629	T	"myosin, heavy polypeptide 11, smooth muscle"			L	CBFB		AML		1	Substitution - Missense(1)	p.T975M(1)	prostate(1)	NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						c.(2923-2925)aCg>aTg		myosin, heavy chain 11, smooth muscle							166	146	153					16																	15833981		2197	4300	6497	SO:0001583	missense	4629				axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction	cytosol|melanosome|muscle myosin complex|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle	g.chr16:15833981G>A	X69292	CCDS10565.1, CCDS10566.1, CCDS45423.1, CCDS45424.1	16p13.11	2011-09-27	2006-09-29		ENSG00000133392	ENSG00000133392		"Myosins / Myosin superfamily : Class II"	7569	protein-coding gene	gene with protein product		160745	"myosin, heavy polypeptide 11, smooth muscle"			7684189	Standard	NM_001040113		Approved	SMMHC, SMHC	uc002ddx.3	P35749	OTTHUMG00000129935	ENST00000300036.5:c.2924C>T	16.37:g.15833981G>A	ENSP00000300036:p.Thr975Met					MYH11_ENST00000396324.3_Missense_Mutation_p.T982M|MYH11_ENST00000452625.2_Missense_Mutation_p.T982M|MYH11_ENST00000300036.5_Missense_Mutation_p.T975M|MYH11_ENST00000576790.1_Missense_Mutation_p.T975M	p.T975M	NM_022844.2	NP_074035.1	P35749	MYH11_HUMAN			23	3030	-			975					D2JYH7|O00396|O94944|P78422|Q3MIV8|Q3MNF0|Q3MNF1	Missense_Mutation	SNP	ENST00000300036.5	37	c.2924C>T	CCDS10565.1	.	.	.	.	.	.	.	.	.	.	G	19.41	3.822145	0.71028	.	.	ENSG00000133392	ENST00000300036;ENST00000338282;ENST00000396320;ENST00000396324;ENST00000452625	T;T;T;T	0.73575	-0.76;-0.76;-0.76;-0.76	4.28	4.28	0.50868	.	0.418766	0.25025	N	0.033733	D	0.83496	0.5267	M	0.79614	2.46	0.49213	D	0.999769	D;D;D;D;D	0.64830	0.994;0.964;0.964;0.964;0.964	P;P;P;P;P	0.57244	0.816;0.77;0.77;0.77;0.77	D	0.86740	0.1954	10	0.87932	D	0	.	15.7506	0.77983	0.0:0.0:1.0:0.0	.	982;975;982;975;982	B1PS43;P35749;Q3MNF1;Q3MIV8;Q3MNF0	.;MYH11_HUMAN;.;.;.	M	975;975;982;982;982	ENSP00000300036:T975M;ENSP00000345136:T975M;ENSP00000379616:T982M;ENSP00000407821:T982M	ENSP00000300036:T975M	T	-	2	0	MYH11	15741482	1.000000	0.71417	0.999000	0.59377	0.901000	0.52897	7.680000	0.84062	1.952000	0.56665	0.486000	0.48141	ACG		0.502	MYH11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252192.2	NM_001040113		32	58	0	0	0	1	0	32	58					A	15833981	G	A	15833981	3	1	3	1	0	0	0	0	1	0	0	0	10031	1145	40	1	3105	1	MYH11	16	15833981	Missense_Mutation	SNP	G	TCGA-2A-A8VT-01A-11D-A377-08		15833981	74520772	36	106											
CHD9	80205	broad.mit.edu	37	chr16	53190610	53190610	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaaattttatgaatgtttcTggtccacatagagtcaatgt	14	15	7	5	0	2	2	1	1	1	1	3	2	3	2	1	1	0	1	1	1	6	4			TCGA-2A-A8VT-01A-11D-A377-08	TCGA-2A-A8VT-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	517cb9af-54ec-4a7e-b093-16081dcfa7e1	076097b4-8ca9-433c-bd04-799c7e1da5f9	g.chr16:53190610T>A	ENST00000398510.3	+	1	696	c.609T>A	c.(607-609)tcT>tcA	p.S203S	CHD9_ENST00000566029.1_Silent_p.S203S|CHD9_ENST00000447540.1_Silent_p.S203S|CHD9_ENST00000564845.1_Silent_p.S203S			Q3L8U1	CHD9_HUMAN	chromodomain helicase DNA binding protein 9	203					cellular lipid metabolic process (GO:0044255)|chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78		all_cancers(37;0.0212)				TGAATGTTTCTGGTCCACATA	0.373																																						ENST00000566029.1																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78						c.(607-609)tcT>tcA		chromodomain helicase DNA binding protein 9							140	133	135					16																	53190610		1840	4093	5933	SO:0001819	synonymous_variant	80205				cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleoplasm	ATP binding|DNA binding|helicase activity|protein binding	g.chr16:53190610T>A	AK022240	CCDS45485.1	16q12.2	2006-04-12				ENSG00000177200			25701	protein-coding gene	gene with protein product						9205841	Standard	XM_005256168		Approved	FLJ12178, KIAA0308, BC022889	uc002egy.3	Q3L8U1		ENST00000398510.3:c.609T>A	16.37:g.53190610T>A						CHD9_ENST00000564845.1_Silent_p.S203S|CHD9_ENST00000398510.3_Silent_p.S203S|CHD9_ENST00000447540.1_Silent_p.S203S	p.S203S			Q3L8U1	CHD9_HUMAN			2	818	+		all_cancers(37;0.0212)	203					B2RTU2|B9ZVQ0|O15025|Q1WF12|Q6DTK9|Q9H9V7|Q9UHM2	Silent	SNP	ENST00000398510.3	37	c.609T>A																																																																																					0.373	CHD9-020	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000422345.1	NM_025134		26	55	0	0	0	1	0	26	55					A	53190610	T	A	53190610	2	1	3	1	0	0	0	0	0	0	0	1	3332	1567	55	5		5	CHD9	16	53190610	Silent	SNP	T	TCGA-2A-A8VT-01A-11D-A377-08	37356629	53190610	37164143	37	107											
TP53	7157	broad.mit.edu	37	chr17	7579592	7579592	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgggacggcaagggggacTgtagatgggtgaaaagagca	12	6	18	5	1	0	3	0	1	0	2	0	5	0	5	0	5	1	3	0	5	4	2			TCGA-2A-A8VT-01A-11D-A377-08	TCGA-2A-A8VT-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	517cb9af-54ec-4a7e-b093-16081dcfa7e1	076097b4-8ca9-433c-bd04-799c7e1da5f9	g.chr17:7579592T>C	ENST00000269305.4	-	4	286		c.e4-2		TP53_ENST00000413465.2_Splice_Site|TP53_ENST00000455263.2_Splice_Site|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000359597.4_Splice_Site|TP53_ENST00000445888.2_Splice_Site|TP53_ENST00000420246.2_Splice_Site	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53						apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.?(15)|p.0?(8)|p.S33fs*10(1)|p.P13fs*18(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	CAAGGGGGACTGTAGATGGGT	0.597		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"Mis, N, F"	tumor protein p53			"L, E, M, O"		"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"	"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"		25	Unknown(15)|Whole gene deletion(8)|Insertion - Frameshift(1)|Deletion - Frameshift(1)	p.?(15)|p.0?(8)|p.S33fs*10(1)|p.P13fs*18(1)	lung(8)|liver(4)|bone(4)|central_nervous_system(3)|upper_aerodigestive_tract(2)|ovary(2)|stomach(1)|haematopoietic_and_lymphoid_tissue(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185						c.e4-2	Other conserved DNA damage response genes	tumor protein p53							139	135	137					17																	7579592		2203	4300	6503	SO:0001630	splice_region_variant	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7579592T>C	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"Li-Fraumeni syndrome"	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.97-2A>G	17.37:g.7579592T>C		HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_ENST00000269305.4_Splice_Site|TP53_ENST00000413465.2_Splice_Site|TP53_ENST00000359597.4_Splice_Site|TP53_ENST00000445888.2_Splice_Site|TP53_ENST00000455263.2_Splice_Site		NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	4	229	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)						Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Splice_Site	SNP	ENST00000269305.4	37		CCDS11118.1	.	.	.	.	.	.	.	.	.	.	T	8.449	0.852564	0.17106	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000508793;ENST00000503591	.	.	.	3.59	3.59	0.41128	.	.	.	.	.	.	.	.	.	.	.	0.44330	D	0.997216	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.8383	0.35126	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	TP53	7520317	0.924000	0.31332	0.022000	0.16811	0.019000	0.09904	1.202000	0.32271	1.873000	0.54277	0.459000	0.35465	.		0.597	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546	Intron	41	38	0	0	0	1	0	41	38					C	7579592	T	C	7579592	5	2	3	1	0	0	0	0	0	0	1	0	16378	1594	55	4	1207	4	TP53	17	7579592	Splice_Site	SNP	T	TCGA-2A-A8VT-01A-11D-A377-08		7579592	73615618	38	108											
KCNG2	26251	broad.mit.edu	37	chr18	77624159	77624159	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcggccggcggcgcctgcgCgacgtggtggacaacccgca	5	3	17	16	9	0	0	0	0	0	0	0	2	0	1	3	5	2	1	3	5	1	0			TCGA-2A-A8VT-01A-11D-A377-08	TCGA-2A-A8VT-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	517cb9af-54ec-4a7e-b093-16081dcfa7e1	076097b4-8ca9-433c-bd04-799c7e1da5f9	g.chr18:77624159C>T	ENST00000316249.3	+	1	492	c.492C>T	c.(490-492)cgC>cgT	p.R164R		NM_012283.1	NP_036415.1	Q9UJ96	KCNG2_HUMAN	potassium voltage-gated channel, subfamily G, member 2	164					energy reserve metabolic process (GO:0006112)|potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of heart contraction (GO:0008016)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)			breast(2)|endometrium(4)|lung(7)|skin(1)|upper_aerodigestive_tract(4)	18		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;6.92e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0244)		ggcgccTGCGCGACGTGGTGG	0.796																																						ENST00000316249.3																			0				breast(2)|endometrium(4)|lung(7)|skin(1)|upper_aerodigestive_tract(4)	18						c.(490-492)cgC>cgT		potassium voltage-gated channel, subfamily G, member 2							10	10	10					18																	77624159		1930	3851	5781	SO:0001819	synonymous_variant	26251				energy reserve metabolic process|regulation of heart contraction|regulation of insulin secretion	voltage-gated potassium channel complex	delayed rectifier potassium channel activity	g.chr18:77624159C>T	AJ011021	CCDS12019.1	18q23	2011-07-05			ENSG00000178342	ENSG00000178342		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6249	protein-coding gene	gene with protein product		605696				10551266, 16382104	Standard	NM_012283		Approved	Kv6.2, KCNF2	uc010xfl.2	Q9UJ96	OTTHUMG00000044541	ENST00000316249.3:c.492C>T	18.37:g.77624159C>T							p.R164R	NM_012283.1	NP_036415.1	Q9UJ96	KCNG2_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;6.92e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0244)	1	492	+		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)	164						Silent	SNP	ENST00000316249.3	37	c.492C>T	CCDS12019.1																																																																																				0.796	KCNG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103906.1	NM_012283		8	6	0	0	0	1	0	8	6					T	77624159	C	T	77624159	2	4	3	1	0	0	0	0	0	0	0	1	8028	755	27	1		1	KCNG2	18	77624159	Silent	SNP	C	TCGA-2A-A8VT-01A-11D-A377-08		77624159	453089	39	109											
APC2	10297	broad.mit.edu	37	chr19	1465425	1465425	+	Frame_Shift_Del	DEL	G	G	-																															accaggcggccgccaccgccGtgtccccaggcagctgcgtg																										TCGA-2A-A8VT-01A-11D-A377-08	TCGA-2A-A8VT-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	517cb9af-54ec-4a7e-b093-16081dcfa7e1	076097b4-8ca9-433c-bd04-799c7e1da5f9	g.chr19:1465425delG	ENST00000535453.1	+	14	3838	c.2125delG	c.(2125-2127)gtgfs	p.V709fs	C19orf25_ENST00000588427.1_Intron|CTB-25B13.12_ENST00000588225.1_RNA|APC2_ENST00000233607.2_Frame_Shift_Del_p.V709fs|APC2_ENST00000238483.4_Frame_Shift_Del_p.V435fs			P02655	APOC2_HUMAN	adenomatosis polyposis coli 2	0					cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|chylomicron remnant clearance (GO:0034382)|chylomicron remodeling (GO:0034371)|high-density lipoprotein particle clearance (GO:0034384)|lipid catabolic process (GO:0016042)|lipoprotein metabolic process (GO:0042157)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cholesterol transport (GO:0032375)|negative regulation of lipid metabolic process (GO:0045833)|negative regulation of receptor-mediated endocytosis (GO:0048261)|negative regulation of very-low-density lipoprotein particle clearance (GO:0010916)|phospholipid efflux (GO:0033700)|phototransduction, visible light (GO:0007603)|positive regulation of fatty acid biosynthetic process (GO:0045723)|positive regulation of lipoprotein lipase activity (GO:0051006)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of phospholipid catabolic process (GO:0060697)|positive regulation of triglyceride catabolic process (GO:0010898)|positive regulation of very-low-density lipoprotein particle remodeling (GO:0010902)|retinoid metabolic process (GO:0001523)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)|triglyceride homeostasis (GO:0070328)|triglyceride-rich lipoprotein particle remodeling (GO:0034370)|very-low-density lipoprotein particle remodeling (GO:0034372)	chylomicron (GO:0042627)|early endosome (GO:0005769)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intermediate-density lipoprotein particle (GO:0034363)|low-density lipoprotein particle (GO:0034362)|spherical high-density lipoprotein particle (GO:0034366)|very-low-density lipoprotein particle (GO:0034361)	lipase inhibitor activity (GO:0055102)|lipid binding (GO:0008289)|lipoprotein lipase activator activity (GO:0060230)|phospholipase activator activity (GO:0016004)|phospholipase binding (GO:0043274)|protein homodimerization activity (GO:0042803)			breast(3)|cervix(1)|kidney(4)|large_intestine(2)|lung(5)|pancreas(1)|skin(2)	18		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CGCCACCGCCGTGTCCCCAGG	0.731																																						ENST00000535453.1																			0				breast(3)|cervix(1)|kidney(4)|large_intestine(2)|lung(5)|pancreas(1)|skin(2)	18						c.(2125-2127)tgfs		adenomatosis polyposis coli 2																																				SO:0001589	frameshift_variant	10297				negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|Wnt receptor signaling pathway	actin filament|catenin complex|cytoplasmic microtubule|Golgi membrane|lamellipodium membrane|perinuclear region of cytoplasm	beta-catenin binding|microtubule binding	g.chr19:1465425delG		CCDS12068.1	19p13.3	2013-02-14			ENSG00000115266	ENSG00000115266		"Armadillo repeat containing"	24036	protein-coding gene	gene with protein product	"adenomatous polyposis coli like"	612034				9823329, 10021369	Standard	XM_005259475		Approved	APCL	uc002lsr.1	O95996		ENST00000535453.1:c.2125delG	19.37:g.1465425delG	ENSP00000442954:p.Val709fs					APC2_ENST00000238483.4_Frame_Shift_Del_p.V435fs|APC2_ENST00000233607.2_Frame_Shift_Del_p.V709fs|C19orf25_ENST00000588427.1_Intron	p.V709fs			O95996	APC2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	14	3838	+		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)	709					C0JYY4|Q9BS39|Q9UDE3|Q9UNK3	Frame_Shift_Del	DEL	ENST00000535453.1	37	c.2125delG	CCDS12068.1																																																																																				0.731	APC2-004	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449539.2	NM_005883		2	4						2	4	---	---	---	---	-	1465425	G	-	1465425	7	5	3	1	0	1	0	1	0	0	0	0	764	1145	40	0	2179	0	APC2	19	1465425	Frame_Shift_Del	DEL	G	TCGA-2A-A8VT-01A-11D-A377-08		1465425	57663558	40	110											
OR10H2	26538	broad.mit.edu	37	chr19	15839766	15839766	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaaggttgccatgaagaggAccttcctcagcacactctat	11	10	9	11	0	2	3	1	2	1	1	3	4	3	4	3	2	2	2	3	2	3	3			TCGA-2A-A8VT-01A-11D-A377-08	TCGA-2A-A8VT-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	517cb9af-54ec-4a7e-b093-16081dcfa7e1	076097b4-8ca9-433c-bd04-799c7e1da5f9	g.chr19:15839766A>G	ENST00000305899.3	+	1	933	c.913A>G	c.(913-915)Acc>Gcc	p.T305A		NM_013939.2	NP_039227.1	O60403	O10H2_HUMAN	olfactory receptor, family 10, subfamily H, member 2	305						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(1)	27	all_hematologic(1;0.0517)|Acute lymphoblastic leukemia(2;0.074)					CATGAAGAGGACCTTCCTCAG	0.527																																						ENST00000305899.3																			0				breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(1)	27						c.(913-915)Acc>Gcc		olfactory receptor, family 10, subfamily H, member 2							76	66	70					19																	15839766		2203	4300	6503	SO:0001583	missense	26538				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr19:15839766A>G	AC004597	CCDS12333.1	19p13.1	2012-08-09				ENSG00000171942		"GPCR / Class A : Olfactory receptors"	8173	protein-coding gene	gene with protein product							Standard	NM_013939		Approved		uc002nbm.2	O60403		ENST00000305899.3:c.913A>G	19.37:g.15839766A>G	ENSP00000306095:p.Thr305Ala						p.T305A	NM_013939.2	NP_039227.1	O60403	O10H2_HUMAN			1	933	+	all_hematologic(1;0.0517)|Acute lymphoblastic leukemia(2;0.074)		305					Q6IFQ1|Q96R58	Missense_Mutation	SNP	ENST00000305899.3	37	c.913A>G	CCDS12333.1	.	.	.	.	.	.	.	.	.	.	.	0.005	-2.201244	0.00296	.	.	ENSG00000171942	ENST00000305899	T	0.37235	1.21	3.34	-0.736	0.11133	.	0.625472	0.14080	N	0.342768	T	0.13286	0.0322	N	0.11673	0.155	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.28138	-1.0053	10	0.09338	T	0.73	.	3.6188	0.08087	0.509:0.2043:0.2866:0.0	.	305	O60403	O10H2_HUMAN	A	305	ENSP00000306095:T305A	ENSP00000306095:T305A	T	+	1	0	OR10H2	15700766	0.000000	0.05858	0.075000	0.20258	0.040000	0.13550	-0.084000	0.11268	0.242000	0.21303	0.427000	0.28365	ACC		0.527	OR10H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460917.1			3	25	0	0	0	1	0	3	25					G	15839766	A	G	15839766	3	3	3	1	0	0	0	0	1	0	0	0	10906	275	10	4	915	4	OR10H2	19	15839766	Missense_Mutation	SNP	A	TCGA-2A-A8VT-01A-11D-A377-08	14374341	15839766	43289217	41	111											
COX7A1	1346	broad.mit.edu	37	chr19	36641901	36641901	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcttaattcctggggaaggAggcccagccaagggagtaca	11	7	14	9	0	1	0	0	0	1	0	2	3	2	3	3	5	2	1	3	5	4	3			TCGA-2A-A8VT-01A-11D-A377-08	TCGA-2A-A8VT-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	517cb9af-54ec-4a7e-b093-16081dcfa7e1	076097b4-8ca9-433c-bd04-799c7e1da5f9	g.chr19:36641901A>T	ENST00000292907.3	-	4	684	c.223T>A	c.(223-225)Tcc>Acc	p.S75T	AD001527.7_ENST00000604228.1_RNA|COX7A1_ENST00000437291.2_Missense_Mutation_p.S19T	NM_001864.2	NP_001855.1	P24310	CX7A1_HUMAN	cytochrome c oxidase subunit VIIa polypeptide 1 (muscle)	75					generation of precursor metabolites and energy (GO:0006091)|hydrogen ion transmembrane transport (GO:1902600)	integral component of membrane (GO:0016021)|mitochondrial respiratory chain (GO:0005746)|mitochondrion (GO:0005739)	cytochrome-c oxidase activity (GO:0004129)			endometrium(2)|large_intestine(1)	3	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			CTGGGGAAGGAGGCCCAGCCA	0.532																																						ENST00000292907.3																			0				endometrium(2)|large_intestine(1)	3						c.(223-225)Tcc>Acc		cytochrome c oxidase subunit VIIa polypeptide 1 (muscle)							128	110	116					19																	36641901		2203	4300	6503	SO:0001583	missense	1346				generation of precursor metabolites and energy	integral to membrane|mitochondrial respiratory chain	cytochrome-c oxidase activity|electron carrier activity	g.chr19:36641901A>T	BC002757	CCDS12490.1	19q13.1	2011-07-04			ENSG00000161281	ENSG00000161281	1.9.3.1	"Mitochondrial respiratory chain complex / Complex IV"	2287	protein-coding gene	gene with protein product		123995		COX7A		1327965, 2550906	Standard	NM_001864		Approved	COX7AH	uc002odm.1	P24310	OTTHUMG00000048144	ENST00000292907.3:c.223T>A	19.37:g.36641901A>T	ENSP00000292907:p.Ser75Thr					COX7A1_ENST00000437291.2_Missense_Mutation_p.S19T	p.S75T	NM_001864.2	NP_001855.1	P24310	CX7A1_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.06)		4	684	-	Esophageal squamous(110;0.162)		75						Missense_Mutation	SNP	ENST00000292907.3	37	c.223T>A	CCDS12490.1	.	.	.	.	.	.	.	.	.	.	a	19.87	3.906703	0.72868	.	.	ENSG00000161281	ENST00000292907	T	0.53857	0.6	4.54	2.33	0.28932	.	0.245129	0.34652	N	0.003789	T	0.53206	0.1782	.	.	.	0.31134	N	0.707376	P	0.45348	0.856	P	0.48454	0.578	T	0.59241	-0.7491	9	0.72032	D	0.01	-6.1717	8.4062	0.32616	0.6065:0.3935:0.0:0.0	.	75	P24310	CX7A1_HUMAN	T	75	ENSP00000292907:S75T	ENSP00000292907:S75T	S	-	1	0	COX7A1	41333741	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	1.824000	0.39072	0.221000	0.20879	0.523000	0.50628	TCC		0.532	COX7A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109545.2	NM_001864		4	59	0	0	0	1	0	4	59					T	36641901	A	T	36641901	3	4	3	1	0	0	0	0	1	0	0	0	3779	304	11	5	20	5	COX7A1	19	36641901	Missense_Mutation	SNP	A	TCGA-2A-A8VT-01A-11D-A377-08	20802135	36641901	22487082	42	112											
RYR1	6261	broad.mit.edu	37	chr19	38933032	38933032	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgttgcttcgtcctggagcAgtccctgtctgtgcgagccc	3	12	12	14	2	1	0	0	0	1	0	4	2	3	1	3	1	4	3	3	1	0	2			TCGA-2A-A8VT-01A-11D-A377-08	TCGA-2A-A8VT-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	517cb9af-54ec-4a7e-b093-16081dcfa7e1	076097b4-8ca9-433c-bd04-799c7e1da5f9	g.chr19:38933032A>T	ENST00000359596.3	+	3	209	c.209A>T	c.(208-210)cAg>cTg	p.Q70L	RYR1_ENST00000355481.4_Missense_Mutation_p.Q70L|RYR1_ENST00000360985.3_Missense_Mutation_p.Q70L			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	70					calcium ion transport (GO:0006816)|cellular response to caffeine (GO:0071313)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|ossification involved in bone maturation (GO:0043931)|outflow tract morphogenesis (GO:0003151)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|skeletal muscle fiber development (GO:0048741)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|integral component of plasma membrane (GO:0005887)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|voltage-gated calcium channel activity (GO:0005245)			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	GTCCTGGAGCAGTCCCTGTCT	0.652																																						ENST00000355481.4																			0				NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285						c.(208-210)cAg>cTg		ryanodine receptor 1 (skeletal)	Dantrolene(DB01219)						72	62	65					19																	38933032		2203	4300	6503	SO:0001583	missense	6261				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr19:38933032A>T	J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"Ion channels / Ryanodine receptors"	10483	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 137"	180901	"central core disease of muscle"	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.209A>T	19.37:g.38933032A>T	ENSP00000352608:p.Gln70Leu					RYR1_ENST00000360985.3_Missense_Mutation_p.Q70L|RYR1_ENST00000359596.3_Missense_Mutation_p.Q70L	p.Q70L	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		3	340	+	all_cancers(60;7.91e-06)		70					Q16314|Q16368|Q9NPK1|Q9P1U4	Missense_Mutation	SNP	ENST00000359596.3	37	c.209A>T	CCDS33011.1	.	.	.	.	.	.	.	.	.	.	a	11.95	1.790547	0.31685	.	.	ENSG00000196218	ENST00000359596;ENST00000355481;ENST00000360985	D;D;D	0.98493	-4.96;-4.96;-4.96	3.66	3.66	0.41972	Inositol 1,4,5-trisphosphate/ryanodine receptor (1);	0.000000	0.64402	U	0.000005	D	0.97955	0.9327	M	0.77820	2.39	0.46774	D	0.999197	P;D	0.54047	0.93;0.964	B;P	0.52386	0.319;0.697	D	0.97880	1.0291	10	0.87932	D	0	.	10.3087	0.43695	1.0:0.0:0.0:0.0	.	70;70	P21817-2;P21817	.;RYR1_HUMAN	L	70	ENSP00000352608:Q70L;ENSP00000347667:Q70L;ENSP00000354254:Q70L	ENSP00000347667:Q70L	Q	+	2	0	RYR1	43624872	1.000000	0.71417	1.000000	0.80357	0.902000	0.53008	8.696000	0.91302	1.536000	0.49237	0.241000	0.17934	CAG		0.652	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1			15	37	0	0	0	1	0	15	37					T	38933032	A	T	38933032	3	4	3	1	0	0	0	0	1	0	0	0	13768	188	7	5	219	5	RYR1	19	38933032	Missense_Mutation	SNP	A	TCGA-2A-A8VT-01A-11D-A377-08	2291131	38933032	20195951	43	113											
SLC1A5	6510	broad.mit.edu	37	chr19	47278981	47278981	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccagagcgtcaccttctacaTtgaggacggtacaggaccgg	10	7	12	12	3	2	2	1	1	1	1	2	4	2	4	3	4	3	1	3	4	2	4			TCGA-2A-A8VT-01A-11D-A377-08	TCGA-2A-A8VT-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	517cb9af-54ec-4a7e-b093-16081dcfa7e1	076097b4-8ca9-433c-bd04-799c7e1da5f9	g.chr19:47278981T>A	ENST00000542575.2	-	8	2040	c.1412A>T	c.(1411-1413)aAt>aTt	p.N471I	FKRP_ENST00000600646.1_Intron|SLC1A5_ENST00000412532.2_Missense_Mutation_p.N243I|SLC1A5_ENST00000434726.2_Missense_Mutation_p.N269I|SLC1A5_ENST00000594991.1_Missense_Mutation_p.N295I	NM_005628.2	NP_005619.1	Q15758	AAAT_HUMAN	solute carrier family 1 (neutral amino acid transporter), member 5	471					amino acid transport (GO:0006865)|extracellular amino acid transport (GO:0006860)|glutamine transport (GO:0006868)|ion transport (GO:0006811)|neutral amino acid transport (GO:0015804)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	L-glutamine transmembrane transporter activity (GO:0015186)|L-serine transmembrane transporter activity (GO:0015194)|neutral amino acid transmembrane transporter activity (GO:0015175)|receptor activity (GO:0004872)|sodium:dicarboxylate symporter activity (GO:0017153)|virus receptor activity (GO:0001618)			cervix(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(2)|stomach(1)	13		all_epithelial(76;0.00314)|Ovarian(192;0.0798)|all_neural(266;0.107)		OV - Ovarian serous cystadenocarcinoma(262;0.000338)|all cancers(93;0.000882)|Epithelial(262;0.0211)|GBM - Glioblastoma multiforme(486;0.0341)	L-Asparagine(DB00174)|L-Glutamine(DB00130)	ACCTTCTACATTGAGGACGGT	0.552																																						ENST00000542575.2																			0				cervix(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(2)|stomach(1)	13						c.(1411-1413)aAt>aTt		solute carrier family 1 (neutral amino acid transporter), member 5	L-Asparagine(DB00174)|L-Glutamine(DB00130)						60	50	53					19																	47278981		2203	4300	6503	SO:0001583	missense	6510				cellular nitrogen compound metabolic process	integral to plasma membrane|melanosome|membrane fraction	neutral amino acid transmembrane transporter activity|protein binding|receptor activity|sodium:dicarboxylate symporter activity	g.chr19:47278981T>A	U53347	CCDS12692.1, CCDS46125.1, CCDS46126.1	19q13.32	2013-07-15			ENSG00000105281	ENSG00000105281		"Solute carriers"	10943	protein-coding gene	gene with protein product		109190		RDRC, M7V1		8702519, 10051606	Standard	NM_005628		Approved	AAAT, ASCT2	uc002pfs.3	Q15758	OTTHUMG00000183434	ENST00000542575.2:c.1412A>T	19.37:g.47278981T>A	ENSP00000444408:p.Asn471Ile					SLC1A5_ENST00000434726.2_Missense_Mutation_p.N269I|SLC1A5_ENST00000412532.2_Missense_Mutation_p.N243I|SLC1A5_ENST00000594991.1_Missense_Mutation_p.N295I|FKRP_ENST00000600646.1_Intron	p.N471I	NM_005628.2	NP_005619.1	Q15758	AAAT_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000338)|all cancers(93;0.000882)|Epithelial(262;0.0211)|GBM - Glioblastoma multiforme(486;0.0341)	8	2040	-		all_epithelial(76;0.00314)|Ovarian(192;0.0798)|all_neural(266;0.107)	471					A8K9H5|B4DR77|B4DWS4|B7ZB81|D0EYG6|E9PC01|O95720|Q96RL9|Q9BWQ3|Q9UNP2	Missense_Mutation	SNP	ENST00000542575.2	37	c.1412A>T	CCDS12692.1	.	.	.	.	.	.	.	.	.	.	-	25.0	4.588927	0.86851	.	.	ENSG00000105281	ENST00000542575;ENST00000434726;ENST00000412532;ENST00000306894	T;T;T	0.80123	-1.34;-1.34;-1.34	4.7	4.7	0.59300	.	0.106398	0.64402	D	0.000006	D	0.93644	0.7970	H	0.98901	4.365	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.95659	0.8713	10	0.87932	D	0	-14.1141	13.2956	0.60294	0.0:0.0:0.0:1.0	.	269;471;471	E9PC01;Q15758;Q71UA6	.;AAAT_HUMAN;.	I	471;269;243;478	ENSP00000444408:N471I;ENSP00000406532:N269I;ENSP00000397924:N243I	ENSP00000303623:N478I	N	-	2	0	SLC1A5	51970821	1.000000	0.71417	0.998000	0.56505	0.929000	0.56500	7.026000	0.76455	1.978000	0.57642	0.449000	0.29647	AAT		0.552	SLC1A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466630.1			10	29	0	0	0	1	0	10	29					A	47278981	T	A	47278981	3	1	3	1	0	0	0	0	1	0	0	0	14435	1493	52	5	217	5	SLC1A5	19	47278981	Missense_Mutation	SNP	T	TCGA-2A-A8VT-01A-11D-A377-08	8345949	47278981	11850002	44	114											
IZUMO1	284359	broad.mit.edu	37	chr19	49248542	49248542	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accccttttgcagtgtggccTcatctgtcagaggagatata	9	12	10	10	0	3	2	2	0	1	2	3	3	3	2	3	2	1	1	3	2	2	4			TCGA-2A-A8VT-01A-11D-A377-08	TCGA-2A-A8VT-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	517cb9af-54ec-4a7e-b093-16081dcfa7e1	076097b4-8ca9-433c-bd04-799c7e1da5f9	g.chr19:49248542T>A	ENST00000332955.2	-	3	786	c.239A>T	c.(238-240)gAg>gTg	p.E80V		NM_182575.2	NP_872381.2	Q8IYV9	IZUM1_HUMAN	izumo sperm-egg fusion 1	80					cell adhesion (GO:0007155)|fusion of sperm to egg plasma membrane (GO:0007342)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)	acrosomal membrane (GO:0002080)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)			endometrium(4)|kidney(3)|large_intestine(4)|lung(2)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	17		all_lung(116;0.000156)|Lung NSC(112;0.000251)|all_epithelial(76;0.000761)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000348)|Epithelial(262;0.019)|GBM - Glioblastoma multiforme(486;0.022)		CAGTGTGGCCTCATCTGTCAG	0.498																																						ENST00000332955.2																			0				endometrium(4)|kidney(3)|large_intestine(4)|lung(2)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	17						c.(238-240)gAg>gTg		izumo sperm-egg fusion 1							130	110	117					19																	49248542		2203	4300	6503	SO:0001583	missense	284359				fusion of sperm to egg plasma membrane	integral to membrane		g.chr19:49248542T>A	BC034769	CCDS12732.1	19q13.33	2014-07-23			ENSG00000182264	ENSG00000182264		"-"	28539	protein-coding gene	gene with protein product	"oocyte binding/fusion factor"	609278				15759005, 18952059, 19658160, 22957301	Standard	NM_182575		Approved	IZUMO, MGC34799, OBF	uc002pkj.3	Q8IYV9	OTTHUMG00000183324	ENST00000332955.2:c.239A>T	19.37:g.49248542T>A	ENSP00000327786:p.Glu80Val						p.E80V	NM_182575.2	NP_872381.2	Q8IYV9	IZUM1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000348)|Epithelial(262;0.019)|GBM - Glioblastoma multiforme(486;0.022)	3	786	-		all_lung(116;0.000156)|Lung NSC(112;0.000251)|all_epithelial(76;0.000761)|all_neural(266;0.0506)|Ovarian(192;0.113)	80					Q6Q8P6|Q6Q8P7	Missense_Mutation	SNP	ENST00000332955.2	37	c.239A>T	CCDS12732.1	.	.	.	.	.	.	.	.	.	.	T	12.08	1.829731	0.32329	.	.	ENSG00000182264	ENST00000332955	T	0.20738	2.05	5.1	4.07	0.47477	.	0.550470	0.16324	N	0.219418	T	0.38268	0.1034	L	0.58101	1.795	0.19575	N	0.999963	D	0.76494	0.999	D	0.66497	0.944	T	0.12941	-1.0528	10	0.87932	D	0	-18.9065	9.266	0.37641	0.0:0.0:0.182:0.818	.	80	Q8IYV9	IZUM1_HUMAN	V	80	ENSP00000327786:E80V	ENSP00000327786:E80V	E	-	2	0	IZUMO1	53940354	0.690000	0.27699	0.027000	0.17364	0.039000	0.13416	1.483000	0.35497	0.886000	0.36113	0.402000	0.26972	GAG		0.498	IZUMO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466189.1	NM_182575		3	24	0	0	0	1	0	3	24					A	49248542	T	A	49248542	3	1	3	1	0	0	0	0	1	0	0	0	7933	1551	54	5	845	5	IZUMO1	19	49248542	Missense_Mutation	SNP	T	TCGA-2A-A8VT-01A-11D-A377-08	1969561	49248542	9880441	45	115											
DSTN	11034	broad.mit.edu	37	chr20	17581394	17581394	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcatcataggcctcaggagtGcaagtagctgatgaagtatg	12	10	12	7	0	3	2	3	2	0	0	3	3	3	3	1	2	2	4	1	2	5	3			TCGA-2A-A8VT-01A-11D-A377-08	TCGA-2A-A8VT-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	517cb9af-54ec-4a7e-b093-16081dcfa7e1	076097b4-8ca9-433c-bd04-799c7e1da5f9	g.chr20:17581394G>T	ENST00000246069.7	+	2	361	c.15G>T	c.(13-15)gtG>gtT	p.V5V	DSTN_ENST00000474024.1_5'UTR	NM_006870.3	NP_006861.1	P60981	DEST_HUMAN	destrin (actin depolymerizing factor)	5	ADF-H. {ECO:0000255|PROSITE- ProRule:PRU00599}.				actin filament depolymerization (GO:0030042)|actin filament severing (GO:0051014)|actin polymerization or depolymerization (GO:0008154)|cellular component movement (GO:0006928)|positive regulation of actin filament depolymerization (GO:0030836)	actin cytoskeleton (GO:0015629)|cortical actin cytoskeleton (GO:0030864)|extracellular vesicular exosome (GO:0070062)				endometrium(1)|large_intestine(5)|lung(8)|skin(1)	15						CCTCAGGAGTGCAAGTAGCTG	0.323																																						ENST00000246069.6																			0				endometrium(1)|large_intestine(5)|lung(8)|skin(1)	15						c.(13-15)gtG>gtT		destrin (actin depolymerizing factor)							29	28	28					20																	17581394		2203	4299	6502	SO:0001819	synonymous_variant	11034				actin filament severing|actin polymerization or depolymerization		actin binding	g.chr20:17581394G>T	S65738	CCDS13127.1, CCDS46580.1	20p12.1	2010-08-20			ENSG00000125868	ENSG00000125868			15750	protein-coding gene	gene with protein product		609114				8399167, 2156828	Standard	NM_006870		Approved	ADF, ACTDP	uc002wpr.3	P60981	OTTHUMG00000031947	ENST00000246069.7:c.15G>T	20.37:g.17581394G>T						DSTN_ENST00000543261.1_5'UTR|DSTN_ENST00000474024.1_3'UTR	p.V5V	NM_006870.3	NP_006861.1	P60981	DEST_HUMAN			2	361	+			5			ADF-H.		B2R6N2|B4DYA6|P18282|Q5W166|Q6IAW2	Silent	SNP	ENST00000246069.7	37	c.15G>T	CCDS13127.1																																																																																				0.323	DSTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078131.6	NM_001011546		3	23	1	0	0.115264	1	0.115264	3	23					T	17581394	G	T	17581394	2	4	3	1	0	0	0	0	0	0	0	1	4784	1306	46	5		5	DSTN	20	17581394	Silent	SNP	G	TCGA-2A-A8VT-01A-11D-A377-08		17581394	45444126	46	116											
CD40	958	broad.mit.edu	37	chr20	44756996	44756996	+	Splice_Site	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggccaagaagccaaccaataAggtaggtcacccctgagaac	15	4	10	12	0	1	2	1	1	0	2	1	3	1	2	5	3	3	1	5	3	7	2			TCGA-2A-A8VT-01A-11D-A377-08	TCGA-2A-A8VT-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	517cb9af-54ec-4a7e-b093-16081dcfa7e1	076097b4-8ca9-433c-bd04-799c7e1da5f9	g.chr20:44756996A>T	ENST00000372285.3	+	8	746	c.674A>T	c.(673-675)aAg>aTg	p.K225M	CD40_ENST00000372276.3_Splice_Site_p.*204Y|CD40_ENST00000489304.1_3'UTR	NM_001250.4	NP_001241.1	P25942	TNR5_HUMAN	CD40 molecule, TNF receptor superfamily member 5	225					B cell proliferation (GO:0042100)|cellular calcium ion homeostasis (GO:0006874)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to mechanical stimulus (GO:0071260)|defense response to virus (GO:0051607)|immune response-regulating cell surface receptor signaling pathway (GO:0002768)|inflammatory response (GO:0006954)|platelet activation (GO:0030168)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of Cdc42 GTPase activity (GO:0043089)|positive regulation of endothelial cell apoptotic process (GO:2000353)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of isotype switching to IgG isotypes (GO:0048304)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein kinase C signaling (GO:0090037)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|protein complex assembly (GO:0006461)|regulation of immune response (GO:0050776)|regulation of immunoglobulin secretion (GO:0051023)	CD40 receptor complex (GO:0035631)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)|enzyme binding (GO:0019899)|receptor activity (GO:0004872)|signal transducer activity (GO:0004871)|ubiquitin protein ligase binding (GO:0031625)			endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10		Myeloproliferative disorder(115;0.0122)				CCAACCAATAAGGTAGGTCAC	0.468									Immune Deficiency with Hyper-IgM		OREG0025991	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000372285.3																			0				endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10						c.e8+1		CD40 molecule, TNF receptor superfamily member 5	Simvastatin(DB00641)						52	52	52					20																	44756996		2203	4300	6503	SO:0001630	splice_region_variant	958	Immune Deficiency with Hyper-IgM	Familial Cancer Database	Hypogammaglobulinemia with Hyper-IgM, HIGM type I-V, XLHIGM	B cell proliferation|cellular response to mechanical stimulus|inflammatory response|platelet activation|positive regulation of endothelial cell apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein complex assembly	CD40 receptor complex|extracellular region	enzyme binding|receptor activity	g.chr20:44756996A>T	X60592	CCDS13393.1, CCDS13394.1	20q12-q13.2	2014-09-17	2006-03-28	2005-01-14	ENSG00000101017	ENSG00000101017		"Tumor necrosis factor receptor superfamily", "CD molecules"	11919	protein-coding gene	gene with protein product		109535	"tumor necrosis factor receptor superfamily, member 5"	TNFRSF5		7687385, 2998589	Standard	XM_005260617		Approved	p50, Bp50	uc002xrg.1	P25942	OTTHUMG00000033053	ENST00000372285.3:c.675+1A>T	20.37:g.44756996A>T			OREG0025991	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	926	CD40_ENST00000372276.3_Splice_Site_p.*204_splice|CD40_ENST00000489304.1_3'UTR	p.K225_splice	NM_001250.4	NP_001241.1	P25942	TNR5_HUMAN			8	746	+		Myeloproliferative disorder(115;0.0122)	225					E1P5S9|Q53GN5|Q5JY15|Q5U007|Q7M4Q8|Q86YK5|Q9BYU0	Splice_Site	SNP	ENST00000372285.3	37	c.675_splice	CCDS13393.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	6.980|6.980	0.550873|0.550873	0.13374|0.13374	.|.	.|.	ENSG00000101017|ENSG00000101017	ENST00000372285|ENST00000372276	T|.	0.76839|.	-1.05|.	5.02|5.02	3.91|3.91	0.45181|0.45181	.|.	13.097300|.	0.00166|.	N|.	0.000000|.	T|.	0.35566|.	0.0936|.	.|.	.|.	.|.	0.09310|0.09310	N|N	1|1	D|.	0.63880|.	0.993|.	P|.	0.49999|.	0.628|.	T|.	0.20240|.	-1.0281|.	9|.	0.87932|.	D|.	0|.	-1.183|-1.183	7.8584|7.8584	0.29495|0.29495	0.816:0.0:0.0:0.184|0.816:0.0:0.0:0.184	.|.	225|.	P25942|.	TNR5_HUMAN|.	M|Y	225|204	ENSP00000361359:K225M|.	ENSP00000361359:K225M|.	K|X	+|+	2|3	0|2	CD40|CD40	44190403|44190403	0.994000|0.994000	0.37717|0.37717	0.974000|0.974000	0.42286|0.42286	0.182000|0.182000	0.23217|0.23217	2.486000|2.486000	0.45259|0.45259	0.895000|0.895000	0.36342|0.36342	0.391000|0.391000	0.25812|0.25812	AAG|TAA		0.468	CD40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080376.1	NM_001250	Missense_Mutation	6	12	0	0	0	1	0	6	12					T	44756996	A	T	44756996	5	4	3	1	0	0	0	0	0	0	1	0	3015	86	3	5	704	5	CD40	20	44756996	Splice_Site	SNP	A	TCGA-2A-A8VT-01A-11D-A377-08	27175602	44756996	18268524	47	117											
GPKOW	27238	broad.mit.edu	37	chrX	48970825	48970825	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcccagcaccaccatcacaCggtcaccctctgccttggga	8	6	9	18	1	3	0	2	0	1	0	3	1	3	1	5	3	2	1	5	3	0	1			TCGA-2A-A8VT-01A-11D-A377-08	TCGA-2A-A8VT-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	517cb9af-54ec-4a7e-b093-16081dcfa7e1	076097b4-8ca9-433c-bd04-799c7e1da5f9	g.chrX:48970825C>T	ENST00000156109.5	-	10	1340	c.1262G>A	c.(1261-1263)cGt>cAt	p.R421H		NM_015698.4	NP_056513.2	Q92917	GPKOW_HUMAN	G patch domain and KOW motifs	421	KOW 2.					nucleus (GO:0005634)	nucleic acid binding (GO:0003676)			breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(11)|ovary(2)	21						CACCATCACACGGTCACCCTC	0.602																																						ENST00000156109.5																			0				breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(11)|ovary(2)	21						c.(1261-1263)cGt>cAt		G patch domain and KOW motifs							153	98	117					X																	48970825		2203	4300	6503	SO:0001583	missense	27238					nucleus	nucleic acid binding	g.chrX:48970825C>T	U66359	CCDS35251.1	Xp11.23	2013-01-28			ENSG00000068394	ENSG00000068394		"G patch domain containing"	30677	protein-coding gene	gene with protein product	"G patch domain containing 5"					21880142, 22365833	Standard	NM_015698		Approved	T54, GPATC5, GPATCH5, Spp2	uc004dmr.3	Q92917	OTTHUMG00000021511	ENST00000156109.5:c.1262G>A	X.37:g.48970825C>T	ENSP00000156109:p.Arg421His						p.R421H	NM_015698.4	NP_056513.2	Q92917	GPKOW_HUMAN			10	1340	-			421			KOW 2.		Q59EK5|Q9BQA8	Missense_Mutation	SNP	ENST00000156109.5	37	c.1262G>A	CCDS35251.1	.	.	.	.	.	.	.	.	.	.	C	7.681	0.689094	0.14973	.	.	ENSG00000068394	ENST00000156109	.	.	.	5.32	3.52	0.40303	KOW (1);	0.699200	0.15616	N	0.253148	T	0.30386	0.0763	L	0.49455	1.56	0.09310	N	1	B	0.22604	0.072	B	0.11329	0.006	T	0.25047	-1.0143	9	0.15499	T	0.54	-16.1211	4.6886	0.12769	0.1763:0.6357:0.0:0.188	.	421	Q92917	GPKOW_HUMAN	H	421	.	ENSP00000156109:R421H	R	-	2	0	GPKOW	48857769	0.007000	0.16637	0.564000	0.28396	0.939000	0.58152	1.181000	0.32017	0.654000	0.30846	0.591000	0.81541	CGT		0.602	GPKOW-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056535.2	NM_015698		5	12	0	0	0	1	0	5	12					T	48970825	C	T	48970825	3	4	3	1	0	0	0	0	1	0	0	0	6613	536	19	1	176	1	GPKOW	23	48970825	Missense_Mutation	SNP	C	TCGA-2A-A8VT-01A-11D-A377-08		48970825	106299735	48	118											
HS6ST2	90161	broad.mit.edu	37	chrX	131762490	131762490	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctggctctggaaatgggtctGaaggagccttcccttcagaa	9	10	12	10	0	3	2	1	1	2	1	4	4	4	4	2	4	1	1	2	4	3	2			TCGA-2A-A8VT-01A-11D-A377-08	TCGA-2A-A8VT-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	517cb9af-54ec-4a7e-b093-16081dcfa7e1	076097b4-8ca9-433c-bd04-799c7e1da5f9	g.chrX:131762490G>A	ENST00000370836.2	-	4	1994	c.1579C>T	c.(1579-1581)Cag>Tag	p.Q527*	HS6ST2_ENST00000406696.3_Nonsense_Mutation_p.Q253*|HS6ST2_ENST00000370833.2_Nonsense_Mutation_p.Q421*|HS6ST2_ENST00000521489.1_Nonsense_Mutation_p.Q567*	NM_147175.3	NP_671704.3	Q96MM7	H6ST2_HUMAN	heparan sulfate 6-O-sulfotransferase 2	527					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process, enzymatic modification (GO:0015015)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	heparan sulfate 6-O-sulfotransferase activity (GO:0017095)			central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(2)	9	Acute lymphoblastic leukemia(192;0.000127)					AAATGGGTCTGAAGGAGCCTT	0.498																																						ENST00000370836.2																			0				central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(2)	9						c.(1579-1581)Cag>Tag		heparan sulfate 6-O-sulfotransferase 2							78	75	76					X																	131762490		1952	4117	6069	SO:0001587	stop_gained	90161					integral to membrane	sulfotransferase activity	g.chrX:131762490G>A	AB067776	CCDS48169.1, CCDS48170.1	Xq26.2	2008-02-05			ENSG00000171004	ENSG00000171004		"Sulfotransferases, membrane-bound"	19133	protein-coding gene	gene with protein product		300545				10644753	Standard	NM_147175		Approved		uc011mvd.1	Q96MM7	OTTHUMG00000022430	ENST00000370836.2:c.1579C>T	X.37:g.131762490G>A	ENSP00000359873:p.Gln527*					HS6ST2_ENST00000370833.2_Nonsense_Mutation_p.Q421*|HS6ST2_ENST00000406696.3_Nonsense_Mutation_p.Q253*|HS6ST2_ENST00000370837.1_Nonsense_Mutation_p.Q381*|HS6ST2_ENST00000521489.1_Nonsense_Mutation_p.Q567*	p.Q527*	NM_147175.3	NP_671704.3	Q96MM7	H6ST2_HUMAN			4	1994	-	Acute lymphoblastic leukemia(192;0.000127)		527					B9WRT4|B9WRT5|E9PDY5|Q2TB13|Q4VC07|Q6PIC4|Q86SM9|Q8N3T4|Q8NBN4|Q96SJ4	Nonsense_Mutation	SNP	ENST00000370836.2	37	c.1579C>T	CCDS48169.1	.	.	.	.	.	.	.	.	.	.	G	38	7.000807	0.97994	.	.	ENSG00000171004	ENST00000370837;ENST00000370836;ENST00000521489;ENST00000406696;ENST00000370833	.	.	.	5.18	5.18	0.71444	.	0.379769	0.27759	N	0.017966	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	-12.096	14.55	0.68059	0.0:0.0:1.0:0.0	.	.	.	.	X	381;527;567;253;421	.	ENSP00000359870:Q421X	Q	-	1	0	HS6ST2	131590171	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	5.742000	0.68646	2.544000	0.85801	0.594000	0.82650	CAG		0.498	HS6ST2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058332.3	NM_147174		5	13	0	0	0	1	0	5	13					A	131762490	G	A	131762490	4	1	3	1	0	0	0	0	0	1	0	0	7371	1299	45	3	242	3	HS6ST2	23	131762490	Nonsense_Mutation	SNP	G	TCGA-2A-A8VT-01A-11D-A377-08	82791665	131762490	23508070	49	119											
TACSTD2	4070	broad.mit.edu	37	chr1	59042487	59042487	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggttgcactggcgcgccttGaagcggccctcggggtcgca	4	8	16	13	5	0	1	0	1	0	0	2	1	0	1	2	5	2	3	2	5	1	2			TCGA-2A-A8VV-01A-11D-A377-08	TCGA-2A-A8VV-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8ff080c-59c0-40d6-b8b1-4480719d7d17	1a90833f-1b9b-4585-8e45-807709fcf434	g.chr1:59042487G>T	ENST00000371225.2	-	1	679	c.342C>A	c.(340-342)ttC>ttA	p.F114L		NM_002353.2	NP_002344.2	P09758	TACD2_HUMAN	tumor-associated calcium signal transducer 2	114	Thyroglobulin type-1. {ECO:0000255|PROSITE-ProRule:PRU00500}.				cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|negative regulation of branching involved in ureteric bud morphogenesis (GO:0090191)|negative regulation of cell motility (GO:2000146)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of ruffle assembly (GO:1900028)|negative regulation of stress fiber assembly (GO:0051497)|negative regulation of substrate adhesion-dependent cell spreading (GO:1900025)|positive regulation of stem cell differentiation (GO:2000738)|regulation of epithelial cell proliferation (GO:0050678)|ureteric bud morphogenesis (GO:0060675)|visual perception (GO:0007601)	basal plasma membrane (GO:0009925)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|membrane (GO:0016020)|nucleus (GO:0005634)	receptor activity (GO:0004872)					all_cancers(7;6.54e-05)					GGCGCGCCTTGAAGCGGCCCT	0.701																																						ENST00000371225.2																			0											c.(340-342)ttC>ttA		tumor-associated calcium signal transducer 2							19	15	16					1																	59042487		2195	4293	6488	SO:0001583	missense	4070				cell proliferation|cell surface receptor linked signaling pathway|visual perception	cytosol|integral to plasma membrane	receptor activity	g.chr1:59042487G>T	X77753	CCDS609.1	1p32	2008-02-05			ENSG00000184292	ENSG00000184292			11530	protein-coding gene	gene with protein product		137290		M1S1		8382772, 11306819	Standard	NM_002353		Approved	TROP2, GA733-1, EGP-1	uc001cyz.4	P09758	OTTHUMG00000010067	ENST00000371225.2:c.342C>A	1.37:g.59042487G>T	ENSP00000360269:p.Phe114Leu						p.F114L	NM_002353.2	NP_002344.2	P09758	TACD2_HUMAN			1	679	-	all_cancers(7;6.54e-05)		114			Thyroglobulin type-1.		Q15658|Q6FG48|Q7Z7Q4|Q96QD2	Missense_Mutation	SNP	ENST00000371225.2	37	c.342C>A	CCDS609.1	.	.	.	.	.	.	.	.	.	.	G	27.9	4.876749	0.91664	.	.	ENSG00000184292	ENST00000371225	T	0.70399	-0.48	4.54	3.62	0.41486	Thyroglobulin type-1 (6);	0.000000	0.85682	D	0.000000	D	0.82875	0.5132	M	0.80332	2.49	0.53688	D	0.999979	D	0.76494	0.999	D	0.87578	0.998	D	0.84454	0.0590	10	0.87932	D	0	-25.0466	11.2316	0.48916	0.0861:0.0:0.9139:0.0	.	114	P09758	TACD2_HUMAN	L	114	ENSP00000360269:F114L	ENSP00000360269:F114L	F	-	3	2	TACSTD2	58815075	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	2.652000	0.46682	1.112000	0.41740	0.561000	0.74099	TTC		0.701	TACSTD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027818.1	NM_002353		10	4	1	0	0.00621372	1	0.00647262	10	4					T	59042487	G	T	59042487	3	4	4	1	0	0	0	0	1	0	0	0	15505	1281	45	5	633	5	TACSTD2	1	59042487	Missense_Mutation	SNP	G	TCGA-2A-A8VV-01A-11D-A377-08		59042487	190208134	1	120											
COL24A1	255631	broad.mit.edu	37	chr1	86590761	86590761	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tggttgcatttccatgagttCgttagtgtgtagatttgctg	6	18	12	5	1	0	2	0	1	0	1	2	2	1	2	1	1	2	6	1	1	2	6			TCGA-2A-A8VV-01A-11D-A377-08	TCGA-2A-A8VV-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8ff080c-59c0-40d6-b8b1-4480719d7d17	1a90833f-1b9b-4585-8e45-807709fcf434	g.chr1:86590761C>T	ENST00000370571.2	-	3	1624	c.1258G>A	c.(1258-1260)Gaa>Aaa	p.E420K	COL24A1_ENST00000436319.1_Missense_Mutation_p.E420K	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1	420					extracellular matrix organization (GO:0030198)|hematopoietic progenitor cell differentiation (GO:0002244)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)	p.E420*(1)		NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		TCCATGAGTTCGTTAGTGTGT	0.358																																						ENST00000370571.2																			1	Substitution - Nonsense(1)	p.E420*(1)	upper_aerodigestive_tract(1)	NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101						c.(1258-1260)Gaa>Aaa		collagen, type XXIV, alpha 1							154	130	137					1																	86590761		1866	4104	5970	SO:0001583	missense	255631				cell adhesion	collagen	extracellular matrix structural constituent	g.chr1:86590761C>T	AF410793	CCDS41353.1	1p22.3-p22.2	2013-01-16			ENSG00000171502	ENSG00000171502		"Collagens"	20821	protein-coding gene	gene with protein product		610025					Standard	NM_152890		Approved		uc001dlj.3	Q17RW2	OTTHUMG00000010629	ENST00000370571.2:c.1258G>A	1.37:g.86590761C>T	ENSP00000359603:p.Glu420Lys					COL24A1_ENST00000436319.1_Missense_Mutation_p.E420K	p.E420K	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN		all cancers(265;0.0627)|Epithelial(280;0.0689)	3	1624	-			420					C9J1X6|Q14BD7|Q59EX5|Q5VY50|Q7Z5L5	Missense_Mutation	SNP	ENST00000370571.2	37	c.1258G>A	CCDS41353.1	.	.	.	.	.	.	.	.	.	.	C	9.195	1.026954	0.19512	.	.	ENSG00000171502	ENST00000370571;ENST00000436319	T;T	0.11821	2.74;2.74	5.45	3.24	0.37175	.	0.000000	0.40640	N	0.001059	T	0.02418	0.0074	N	0.19112	0.55	0.35766	D	0.820548	B;B	0.27791	0.189;0.046	B;B	0.25506	0.061;0.005	T	0.29119	-1.0022	10	0.07990	T	0.79	.	10.6098	0.45415	0.0:0.8214:0.0:0.1786	.	420;420	F8WDM8;Q17RW2	.;COOA1_HUMAN	K	420	ENSP00000359603:E420K;ENSP00000392531:E420K	ENSP00000359603:E420K	E	-	1	0	COL24A1	86363349	1.000000	0.71417	1.000000	0.80357	0.263000	0.26337	2.119000	0.41958	1.307000	0.44944	0.563000	0.77884	GAA		0.358	COL24A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029335.4	NM_152890		4	58	0	0	0	1	0	4	58					T	86590761	C	T	86590761	3	4	4	1	0	0	0	0	1	0	0	0	3683	893	31	2	4118	2	COL24A1	1	86590761	Missense_Mutation	SNP	C	TCGA-2A-A8VV-01A-11D-A377-08	27548274	86590761	162659860	2	121											
ATP8B2	57198	broad.mit.edu	37	chr1	154305093	154305093	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcagagatactgtccttccaGcgagaccaacatgaaagtac	14	8	8	11	1	1	3	1	1	0	2	3	5	3	3	3	0	4	1	3	0	4	3			TCGA-2A-A8VV-01A-11D-A377-08	TCGA-2A-A8VV-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8ff080c-59c0-40d6-b8b1-4480719d7d17	1a90833f-1b9b-4585-8e45-807709fcf434	g.chr1:154305093G>A	ENST00000368489.3	+	9	608		c.e9-1		ATP8B2_ENST00000426445.1_Splice_Site|ATP8B2_ENST00000368487.3_Splice_Site|ATP8B2_ENST00000341822.2_Splice_Site	NM_020452.3	NP_065185.1	P98198	AT8B2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 2						ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)		IL6R/ATP8B2(2)	breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			TGTCCTTCCAGCGAGACCAAC	0.507																																						ENST00000368489.3																		IL6R/ATP8B2(2)	0				breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	51						c.e9-1		ATPase, aminophospholipid transporter, class I, type 8B, member 2							120	97	105					1																	154305093		2202	4299	6501	SO:0001630	splice_region_variant	57198				ATP biosynthetic process	plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr1:154305093G>A	AB032963	CCDS1066.1, CCDS41405.1	1q21.3	2012-03-09	2012-03-09		ENSG00000143515	ENSG00000143515		"ATPases / P-type"	13534	protein-coding gene	gene with protein product		605867	"ATPase, class I, type 8B, member 2"			10574461, 11015572	Standard	NM_020452		Approved	ATPID, KIAA1137	uc001fex.3	P98198	OTTHUMG00000035979	ENST00000368489.3:c.609-1G>A	1.37:g.154305093G>A						ATP8B2_ENST00000368487.3_Splice_Site|ATP8B2_ENST00000341822.2_Splice_Site|ATP8B2_ENST00000426445.1_Splice_Site		NM_020452.3	NP_065185.1	P98198	AT8B2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.185)		9	608	+	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)							B4E3P4|Q6NT69|Q7Z486|Q96I43|Q96NQ7	Splice_Site	SNP	ENST00000368489.3	37		CCDS1066.1	.	.	.	.	.	.	.	.	.	.	G	12.94	2.087770	0.36855	.	.	ENSG00000143515	ENST00000368487;ENST00000368489;ENST00000341822	.	.	.	5.12	5.12	0.69794	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.3057	0.87194	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ATP8B2	152571717	1.000000	0.71417	1.000000	0.80357	0.098000	0.18820	9.218000	0.95166	2.656000	0.90262	0.650000	0.86243	.		0.507	ATP8B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087658.2	NM_020452	Intron	3	7	0	0	0	1	0	3	7					A	154305093	G	A	154305093	5	1	4	1	0	0	0	0	0	0	1	0	1195	985	34	3	642	3	ATP8B2	1	154305093	Splice_Site	SNP	G	TCGA-2A-A8VV-01A-11D-A377-08	67714332	154305093	94945528	3	122											
RPS6KC1	26750	broad.mit.edu	37	chr1	213303168	213303168	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttaaaaaaggaagaagaagaCgactatgaagctgcttctga	18	8	10	5	1	1	5	0	2	1	3	1	7	1	6	0	1	2	2	0	1	8	3	rs573792172	byFrequency	TCGA-2A-A8VV-01A-11D-A377-08	TCGA-2A-A8VV-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8ff080c-59c0-40d6-b8b1-4480719d7d17	1a90833f-1b9b-4585-8e45-807709fcf434	g.chr1:213303168C>A	ENST00000366960.3	+	6	921	c.771C>A	c.(769-771)gaC>gaA	p.D257E	RPS6KC1_ENST00000366959.3_Missense_Mutation_p.D245E|RPS6KC1_ENST00000490299.1_3'UTR|RPS6KC1_ENST00000543354.1_Intron|RPS6KC1_ENST00000543470.1_Missense_Mutation_p.D76E	NM_012424.3	NP_036556.2	Q96S38	KS6C1_HUMAN	ribosomal protein S6 kinase, 52kDa, polypeptide 1	257					signal transduction (GO:0007165)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)	ATP binding (GO:0005524)|phosphatidylinositol binding (GO:0035091)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(6)|kidney(4)|large_intestine(8)|liver(2)|lung(15)|ovary(3)|prostate(1)|urinary_tract(3)	43				OV - Ovarian serous cystadenocarcinoma(81;0.00705)|all cancers(67;0.016)|GBM - Glioblastoma multiforme(131;0.0663)|Epithelial(68;0.145)		AAGAAGAAGACGACTATGAAG	0.383																																						ENST00000366960.3																			0				breast(1)|endometrium(6)|kidney(4)|large_intestine(8)|liver(2)|lung(15)|ovary(3)|prostate(1)|urinary_tract(3)	43						c.(769-771)gaC>gaA		ribosomal protein S6 kinase, 52kDa, polypeptide 1							60	63	62					1																	213303168		2203	4300	6503	SO:0001583	missense	26750				cell communication|signal transduction	early endosome|membrane	ATP binding|phosphatidylinositol binding|protein binding|protein serine/threonine kinase activity	g.chr1:213303168C>A	AF037447	CCDS1513.1, CCDS44317.1, CCDS73028.1, CCDS73029.1, CCDS73030.1	1q41	2011-04-05	2002-08-29		ENSG00000136643	ENSG00000136643			10439	protein-coding gene	gene with protein product			"ribosomal protein S6 kinase, 52kD, polypeptide 1"			10552933	Standard	XM_005273095		Approved	humS6PKh1	uc010ptr.2	Q96S38	OTTHUMG00000036926	ENST00000366960.3:c.771C>A	1.37:g.213303168C>A	ENSP00000355927:p.Asp257Glu					RPS6KC1_ENST00000543470.1_Missense_Mutation_p.D76E|RPS6KC1_ENST00000543354.1_Intron|RPS6KC1_ENST00000366959.3_Missense_Mutation_p.D245E|RPS6KC1_ENST00000490299.1_3'UTR	p.D257E	NM_012424.3	NP_036556.2	Q96S38	KS6C1_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.00705)|all cancers(67;0.016)|GBM - Glioblastoma multiforme(131;0.0663)|Epithelial(68;0.145)	6	921	+			257					B1APS8|B3KVM4|D3DTA4|Q8TDD3|Q9NSF4|Q9UL66	Missense_Mutation	SNP	ENST00000366960.3	37	c.771C>A	CCDS1513.1	.	.	.	.	.	.	.	.	.	.	c	0.365	-0.936959	0.02340	.	.	ENSG00000136643	ENST00000543470;ENST00000366960;ENST00000366959	T;T;T	0.69175	-0.38;-0.38;-0.38	5.54	-11.1	0.00147	MIT (2);	0.499064	0.23479	N	0.047734	T	0.15652	0.0377	N	0.00289	-1.7	0.80722	D	1	B;B;B	0.14012	0.009;0.006;0.006	B;B;B	0.19148	0.024;0.017;0.017	T	0.52465	-0.8572	10	0.02654	T	1	-18.8612	7.3383	0.26623	0.1164:0.501:0.0643:0.3184	.	76;257;245	F5H7T0;Q96S38;B1APS8	.;KS6C1_HUMAN;.	E	76;257;245	ENSP00000442306:D76E;ENSP00000355927:D257E;ENSP00000355926:D245E	ENSP00000355926:D245E	D	+	3	2	RPS6KC1	211369791	0.098000	0.21812	0.446000	0.26920	0.717000	0.41224	-0.718000	0.04980	-2.364000	0.00607	-3.119000	0.00061	GAC		0.383	RPS6KC1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000089690.3	NM_012424		4	59	1	0	0.00909568	1	0.00909568	4	59					A	213303168	C	A	213303168	3	1	4	1	0	0	0	0	1	0	0	0	13658	535	19	5	793	5	RPS6KC1	1	213303168	Missense_Mutation	SNP	C	TCGA-2A-A8VV-01A-11D-A377-08	58998075	213303168	35947453	4	123											
OR2G2	81470	broad.mit.edu	37	chr1	247752563	247752563	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cttgaggatcaaggaggtgaAaggggcattaaagaaagttc	15	8	14	4	0	1	3	1	2	0	1	2	5	1	5	0	5	0	2	0	5	5	3			TCGA-2A-A8VV-01A-11D-A377-08	TCGA-2A-A8VV-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8ff080c-59c0-40d6-b8b1-4480719d7d17	1a90833f-1b9b-4585-8e45-807709fcf434	g.chr1:247752563A>T	ENST00000320065.1	+	1	902	c.902A>T	c.(901-903)aAa>aTa	p.K301I	RP11-978I15.10_ENST00000435333.1_RNA|RP11-978I15.10_ENST00000446347.1_RNA	NM_001001915.1	NP_001001915.1	Q8NGZ5	OR2G2_HUMAN	olfactory receptor, family 2, subfamily G, member 2	301						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(4)|kidney(4)|large_intestine(3)|lung(30)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			AAGGAGGTGAAAGGGGCATTA	0.368																																						ENST00000320065.1																			0				endometrium(4)|kidney(4)|large_intestine(3)|lung(30)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						c.(901-903)aAa>aTa		olfactory receptor, family 2, subfamily G, member 2							80	85	83					1																	247752563		2203	4300	6503	SO:0001583	missense	81470				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:247752563A>T	BK004472	CCDS31092.1	1q44	2012-08-09	2008-05-23		ENSG00000177489	ENSG00000177489		"GPCR / Class A : Olfactory receptors"	15007	protein-coding gene	gene with protein product			"olfactory receptor, family 2, subfamily G, member 2", "olfactory receptor, family 2, subfamily G, member 2 pseudogene"				Standard	NM_001001915		Approved		uc010pyy.2	Q8NGZ5	OTTHUMG00000040575	ENST00000320065.1:c.902A>T	1.37:g.247752563A>T	ENSP00000326349:p.Lys301Ile					RP11-978I15.10_ENST00000435333.1_RNA|RP11-978I15.10_ENST00000446347.1_RNA	p.K301I	NM_001001915.1	NP_001001915.1	Q8NGZ5	OR2G2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.017)		1	902	+	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		301					Q5JQT2|Q6IEZ0	Missense_Mutation	SNP	ENST00000320065.1	37	c.902A>T	CCDS31092.1	.	.	.	.	.	.	.	.	.	.	A	12.96	2.094008	0.36952	.	.	ENSG00000177489	ENST00000320065	T	0.40225	1.04	4.05	4.05	0.47172	.	0.000000	0.38837	U	0.001543	T	0.47637	0.1456	L	0.48260	1.515	0.09310	N	1	D	0.58268	0.982	P	0.54460	0.753	T	0.39461	-0.9613	10	0.87932	D	0	.	11.0421	0.47838	1.0:0.0:0.0:0.0	.	301	Q8NGZ5	OR2G2_HUMAN	I	301	ENSP00000326349:K301I	ENSP00000326349:K301I	K	+	2	0	OR2G2	245819186	0.001000	0.12720	0.005000	0.12908	0.107000	0.19398	1.529000	0.35996	1.688000	0.51068	0.477000	0.44152	AAA		0.368	OR2G2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097623.1			6	101	0	0	0	1	0	6	101					T	247752563	A	T	247752563	3	4	4	1	0	0	0	0	1	0	0	0	10998	14	1	5	904	5	OR2G2	1	247752563	Missense_Mutation	SNP	A	TCGA-2A-A8VV-01A-11D-A377-08	34449395	247752563	1498058	5	124											
CCDC108	255101	broad.mit.edu	37	chr2	219892592	219892592	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggttgggggcctcaggccctGggcaggcaccgaagtctacc	6	6	16	13	1	2	0	1	0	1	0	2	1	2	0	4	6	1	3	4	6	2	2			TCGA-2A-A8VV-01A-11D-A377-08	TCGA-2A-A8VV-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8ff080c-59c0-40d6-b8b1-4480719d7d17	1a90833f-1b9b-4585-8e45-807709fcf434	g.chr2:219892592G>A	ENST00000341552.5	-	13	2074	c.1991C>T	c.(1990-1992)cCa>cTa	p.P664L	CCDC108_ENST00000410037.1_Missense_Mutation_p.P599L|CCDC108_ENST00000453220.1_Missense_Mutation_p.P664L|CCDC108_ENST00000441968.1_Missense_Mutation_p.P664L|CCDC108_ENST00000409865.3_Missense_Mutation_p.P653L	NM_194302.2	NP_919278.2	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108	664						integral component of membrane (GO:0016021)	poly(A) RNA binding (GO:0044822)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CTCAGGCCCTGGGCAGGCACC	0.617																																						ENST00000341552.5																			0				autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80						c.(1990-1992)cCa>cTa		coiled-coil domain containing 108							48	48	48					2																	219892592		2203	4300	6503	SO:0001583	missense	255101					integral to membrane	structural molecule activity	g.chr2:219892592G>A	NM_194302, AL833882, AK127189	CCDS2430.2, CCDS2431.2, CCDS63125.1, CCDS63126.1	2q35	2008-02-05			ENSG00000181378	ENSG00000181378			25325	protein-coding gene	gene with protein product		614270				12477932	Standard	NM_194302		Approved	DKFZp434O0527, MGC35338	uc002vjl.2	Q6ZU64	OTTHUMG00000133013	ENST00000341552.5:c.1991C>T	2.37:g.219892592G>A	ENSP00000340776:p.Pro664Leu					CCDC108_ENST00000441968.1_Missense_Mutation_p.P664L|CCDC108_ENST00000453220.1_Missense_Mutation_p.P664L|CCDC108_ENST00000410037.1_Missense_Mutation_p.P599L|CCDC108_ENST00000409865.3_Missense_Mutation_p.P653L	p.P664L	NM_194302.2	NP_919278.2	Q6ZU64	CC108_HUMAN		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	13	2074	-		Renal(207;0.0915)	664					A2BDD8|E9PCR1|E9PG25|E9PG72|Q6ZSR8|Q8N0T4|Q8NDJ3	Missense_Mutation	SNP	ENST00000341552.5	37	c.1991C>T	CCDS2430.2	.	.	.	.	.	.	.	.	.	.	G	15.52	2.859139	0.51376	.	.	ENSG00000181378	ENST00000341552;ENST00000441968;ENST00000453220;ENST00000545086;ENST00000409865;ENST00000410037;ENST00000441164	T;T;T;T;T	0.07327	3.51;3.51;3.51;3.2;3.22	5.18	5.18	0.71444	.	0.642064	0.13847	N	0.358653	T	0.09555	0.0235	L	0.60455	1.87	0.80722	D	1	P;P;B	0.34977	0.478;0.478;0.274	B;B;B	0.33960	0.173;0.173;0.112	T	0.08166	-1.0735	10	0.07644	T	0.81	-8.0752	12.6407	0.56709	0.0855:0.0:0.9145:0.0	.	653;598;664	E9PG25;B4DYZ8;Q6ZU64	.;.;CC108_HUMAN	L	664;664;664;140;653;599;598	ENSP00000340776:P664L;ENSP00000413377:P664L;ENSP00000409117:P664L;ENSP00000386945:P653L;ENSP00000386258:P599L	ENSP00000340776:P664L	P	-	2	0	CCDC108	219600836	0.981000	0.34729	0.404000	0.26397	0.868000	0.49771	5.304000	0.65744	2.688000	0.91661	0.655000	0.94253	CCA		0.617	CCDC108-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256598.4	NM_194302		16	24	0	0	0	1	0	16	24					A	219892592	G	A	219892592	3	1	4	1	0	0	0	0	1	0	0	0	2743	1348	47	3	3878	3	CCDC108	2	219892592	Missense_Mutation	SNP	G	TCGA-2A-A8VV-01A-11D-A377-08		219892592	23306781	6	125											
SEPT2	4735	broad.mit.edu	37	chr2	242276830	242276830	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atctcctatattgatgagcaAtttgagaggtacctgcatga	12	13	9	7	0	1	4	0	4	1	1	2	5	1	4	2	1	3	3	2	1	4	5	rs369644369		TCGA-2A-A8VV-01A-11D-A377-08	TCGA-2A-A8VV-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8ff080c-59c0-40d6-b8b1-4480719d7d17	1a90833f-1b9b-4585-8e45-807709fcf434	g.chr2:242276830A>G	ENST00000391973.2	+	6	903	c.375A>G	c.(373-375)caA>caG	p.Q125Q	SEPT2_ENST00000402092.2_Silent_p.Q125Q|SEPT2_ENST00000401990.1_Silent_p.Q135Q|SEPT2_ENST00000407971.1_Silent_p.Q85Q|SEPT2_ENST00000360051.3_Silent_p.Q125Q|SEPT2_ENST00000391971.2_Silent_p.Q125Q	NM_006155.1	NP_006146.1	Q15019	SEPT2_HUMAN	septin 2	125	Septin-type G.				cilium assembly (GO:0042384)|mitotic nuclear division (GO:0007067)|neuron projection development (GO:0031175)|regulation of L-glutamate transport (GO:0002036)|regulation of protein localization (GO:0032880)|smoothened signaling pathway (GO:0007224)	actin cytoskeleton (GO:0015629)|cell surface (GO:0009986)|ciliary membrane (GO:0060170)|ciliary transition zone (GO:0035869)|cytoplasm (GO:0005737)|exocyst (GO:0000145)|extracellular vesicular exosome (GO:0070062)|kinetochore (GO:0000776)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|septin complex (GO:0031105)|synapse (GO:0045202)	enzyme regulator activity (GO:0030234)|GTP binding (GO:0005525)			central_nervous_system(2)|endometrium(1)|large_intestine(4)|lung(3)|skin(2)	12		all_cancers(19;7.62e-41)|all_epithelial(40;1.71e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;1.24e-34)|all cancers(36;7.15e-32)|OV - Ovarian serous cystadenocarcinoma(60;1.21e-15)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;3.16e-06)|Lung(119;7.81e-05)|LUSC - Lung squamous cell carcinoma(224;0.000742)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0889)		TTGATGAGCAATTTGAGAGGT	0.398																																						ENST00000391973.2																			0				central_nervous_system(2)|endometrium(1)|large_intestine(4)|lung(3)|skin(2)	12						c.(373-375)caA>caG		septin 2		A	,,,	0,4406		0,0,2203	147	140	142		375,375,375,375	2.5	1	2		142	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	SEPT2	NM_001008491.1,NM_001008492.1,NM_004404.3,NM_006155.1	,,,	0,1,6502	GG,GA,AA		0.0116,0.0,0.0077	,,,	125/362,125/362,125/362,125/362	242276830	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	4735				cell division|mitosis	actin cytoskeleton|cleavage furrow|condensed chromosome kinetochore|midbody|nucleolus|septin complex|spindle	GTP binding	g.chr2:242276830A>G	D28540	CCDS2548.1, CCDS63195.1, CCDS74682.1	2q37.3	2013-01-21	2005-01-11	2005-01-12	ENSG00000168385	ENSG00000168385		"Septins"	7729	protein-coding gene	gene with protein product		601506	"neural precursor cell expressed, developmentally down-regulated 5"	DIFF6, NEDD5		8697812	Standard	XM_005247011		Approved	KIAA0158, hNedd5, Pnutl3	uc002wbd.3	Q15019	OTTHUMG00000133394	ENST00000391973.2:c.375A>G	2.37:g.242276830A>G						SEPT2_ENST00000360051.3_Silent_p.Q125Q|SEPT2_ENST00000401990.1_Silent_p.Q135Q|SEPT2_ENST00000402092.2_Silent_p.Q125Q|SEPT2_ENST00000407971.1_Silent_p.Q85Q|SEPT2_ENST00000391971.2_Silent_p.Q125Q	p.Q125Q	NM_006155.1	NP_006146.1	Q15019	SEPT2_HUMAN		Epithelial(32;1.24e-34)|all cancers(36;7.15e-32)|OV - Ovarian serous cystadenocarcinoma(60;1.21e-15)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;3.16e-06)|Lung(119;7.81e-05)|LUSC - Lung squamous cell carcinoma(224;0.000742)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0889)	6	903	+		all_cancers(19;7.62e-41)|all_epithelial(40;1.71e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)	125					B4DGE8|Q14132|Q53QU3|Q8IUK9|Q96CB0	Silent	SNP	ENST00000391973.2	37	c.375A>G	CCDS2548.1	.	.	.	.	.	.	.	.	.	.	A	8.870	0.949040	0.18356	0.0	1.16E-4	ENSG00000168385	ENST00000457874	.	.	.	5.28	2.48	0.30137	.	.	.	.	.	T	0.59959	0.2232	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.57596	-0.7784	4	.	.	.	.	10.725	0.46064	0.2023:0.0:0.7977:0.0	.	.	.	.	S	97	.	.	N	+	2	0	SEPT2	241925503	1.000000	0.71417	1.000000	0.80357	0.912000	0.54170	2.163000	0.42377	1.245000	0.43885	-0.132000	0.14878	AAT		0.398	SEPT2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323177.3	NM_006155		4	104	0	0	0	1	0	4	104					G	242276830	A	G	242276830	2	3	4	1	0	0	0	0	0	0	0	1	14064	98	4	4		4	SEPT2	2	242276830	Silent	SNP	A	TCGA-2A-A8VV-01A-11D-A377-08	22384238	242276830	922543	7	126											
ZNF518B	85460	broad.mit.edu	37	chr4	10445820	10445820	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccaagaccagtgagtgacacGttgatttcttgaataccttc	11	12	8	10	1	1	5	0	4	1	1	2	5	1	5	3	0	1	1	3	0	3	5			TCGA-2A-A8VV-01A-11D-A377-08	TCGA-2A-A8VV-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8ff080c-59c0-40d6-b8b1-4480719d7d17	1a90833f-1b9b-4585-8e45-807709fcf434	g.chr4:10445820G>A	ENST00000326756.3	-	3	2571	c.2133C>T	c.(2131-2133)aaC>aaT	p.N711N		NM_053042.2	NP_444270.2	Q9C0D4	Z518B_HUMAN	zinc finger protein 518B	711					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)	p.N711K(1)		breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	42						TGAGTGACACGTTGATTTCTT	0.443																																						ENST00000326756.3																			1	Substitution - Missense(1)	p.N711K(1)	endometrium(1)	breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	42						c.(2131-2133)aaC>aaT		zinc finger protein 518B							107	106	106					4																	10445820		2203	4300	6503	SO:0001819	synonymous_variant	85460				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr4:10445820G>A	AB051516	CCDS33960.1	4p16.1	2007-12-07				ENSG00000178163		"Zinc fingers, C2H2-type"	29365	protein-coding gene	gene with protein product						11214970	Standard	XM_005248193		Approved	KIAA1729	uc003gmn.3	Q9C0D4		ENST00000326756.3:c.2133C>T	4.37:g.10445820G>A							p.N711N	NM_053042.2	NP_444270.2	Q9C0D4	Z518B_HUMAN			3	2571	-			711					Q96LN8	Silent	SNP	ENST00000326756.3	37	c.2133C>T	CCDS33960.1																																																																																				0.443	ZNF518B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359040.1	NM_053042		35	62	0	0	0	1	0	35	62					A	10445820	G	A	10445820	2	1	4	1	0	0	0	0	0	0	0	1	17960	1136	40	1		1	ZNF518B	4	10445820	Silent	SNP	G	TCGA-2A-A8VV-01A-11D-A377-08		10445820	180708456	8	127											
PDLIM5	10611	broad.mit.edu	37	chr4	95508146	95508146	+	Intron	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttgtatttccacagggaaaaGataccccttcacgtctttag	11	13	7	10	1	2	1	1	0	1	1	3	2	3	2	3	1	1	1	3	1	5	7			TCGA-2A-A8VV-01A-11D-A377-08	TCGA-2A-A8VV-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8ff080c-59c0-40d6-b8b1-4480719d7d17	1a90833f-1b9b-4585-8e45-807709fcf434	g.chr4:95508146G>A	ENST00000317968.4	+	7	1056				PDLIM5_ENST00000508216.1_Silent_p.K206K|PDLIM5_ENST00000514743.1_Intron|PDLIM5_ENST00000437932.1_Intron|PDLIM5_ENST00000380176.3_Intron|PDLIM5_ENST00000380180.3_Silent_p.K206K|PDLIM5_ENST00000542407.1_Intron|PDLIM5_ENST00000538141.1_Silent_p.K186K|PDLIM5_ENST00000318007.5_Silent_p.K186K|PDLIM5_ENST00000450793.1_Silent_p.K206K	NM_001256428.1|NM_006457.4	NP_001243357.1|NP_006448	Q96HC4	PDLI5_HUMAN	PDZ and LIM domain 5						regulation of dendritic spine morphogenesis (GO:0061001)|regulation of synapse assembly (GO:0051963)	actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|cytosol (GO:0005829)|membrane (GO:0016020)|neuron projection (GO:0043005)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	actin binding (GO:0003779)|actinin binding (GO:0042805)|protein kinase C binding (GO:0005080)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	22		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.84e-09)		ACAGGGAAAAGATACCCCTTC	0.363																																						ENST00000380180.3																			0				central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	22						c.(616-618)aaG>aaA		PDZ and LIM domain 5							57	52	54					4																	95508146		1836	4088	5924	SO:0001627	intron_variant	10611				regulation of dendritic spine morphogenesis|regulation of synaptogenesis	actin cytoskeleton|cell junction|cytosol|postsynaptic density|postsynaptic membrane|synaptosome	actin binding|actinin binding|protein kinase C binding|zinc ion binding	g.chr4:95508146G>A	AF061258	CCDS3641.1, CCDS47103.1, CCDS47104.1, CCDS58915.1, CCDS58916.1, CCDS58917.1, CCDS75166.1	4q22	2006-04-12			ENSG00000163110	ENSG00000163110			17468	protein-coding gene	gene with protein product		605904				15346770	Standard	NM_006457		Approved	LIM, Enh	uc003htk.4	Q96HC4	OTTHUMG00000130973	ENST00000317968.4:c.920+551G>A	4.37:g.95508146G>A						PDLIM5_ENST00000508216.1_Silent_p.K206K|PDLIM5_ENST00000317968.4_Intron|PDLIM5_ENST00000542407.1_Intron|PDLIM5_ENST00000450793.1_Silent_p.K206K|PDLIM5_ENST00000538141.1_Silent_p.K186K|PDLIM5_ENST00000514743.1_Intron|PDLIM5_ENST00000380176.3_Intron|PDLIM5_ENST00000318007.5_Silent_p.K186K|PDLIM5_ENST00000437932.1_Intron	p.K206K	NM_001011515.2	NP_001011515.1	Q96HC4	PDLI5_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;1.84e-09)	9	769	+		Hepatocellular(203;0.114)	0					A8K6F9|D6RB78|E9PBF5|O60705|Q56VN4|Q5UW38|Q8WVK0	Silent	SNP	ENST00000317968.4	37	c.618G>A	CCDS3641.1	.	.	.	.	.	.	.	.	.	.	G	9.296	1.051865	0.19827	.	.	ENSG00000163110	ENST00000513341	.	.	.	5.38	5.38	0.77491	.	.	.	.	.	T	0.75354	0.3838	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.73344	-0.4012	4	.	.	.	.	19.4941	0.95064	0.0:0.0:1.0:0.0	.	.	.	.	K	168	.	.	R	+	2	0	PDLIM5	95727169	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.343000	0.79319	2.682000	0.91365	0.591000	0.81541	AGA		0.363	PDLIM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253586.1			4	18	0	0	0	1	0	4	18					A	95508146	G	A	95508146	1	1	4	0	1	0	0	0	0	0	0	0	11683	933	33	3		3	PDLIM5	4	95508146	Intron	SNP	G	TCGA-2A-A8VV-01A-11D-A377-08	85062326	95508146	95646130	9	128											
OR2Y1	134083	broad.mit.edu	37	chr5	180166466	180166466	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctatgactcgggccacaaacAtcttggcctctgttccttct	7	13	7	14	1	3	1	0	1	3	0	5	1	4	1	3	2	1	1	3	2	2	4			TCGA-2A-A8VV-01A-11D-A377-08	TCGA-2A-A8VV-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8ff080c-59c0-40d6-b8b1-4480719d7d17	1a90833f-1b9b-4585-8e45-807709fcf434	g.chr5:180166466A>T	ENST00000307832.2	-	1	633	c.593T>A	c.(592-594)aTg>aAg	p.M198K		NM_001001657.1	NP_001001657.1	Q8NGV0	OR2Y1_HUMAN	olfactory receptor, family 2, subfamily Y, member 1	198						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20	all_cancers(89;1.25e-05)|all_epithelial(37;4.36e-06)|Renal(175;0.000159)|Lung NSC(126;0.00317)|all_lung(126;0.0041)|Breast(19;0.114)	all_cancers(40;0.0834)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GGCCACAAACATCTTGGCCTC	0.517																																						ENST00000307832.2																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20						c.(592-594)aTg>aAg		olfactory receptor, family 2, subfamily Y, member 1							97	84	88					5																	180166466		2203	4300	6503	SO:0001583	missense	134083				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr5:180166466A>T	AB065676	CCDS34323.1	5q35	2012-08-09			ENSG00000174339	ENSG00000174339		"GPCR / Class A : Olfactory receptors"	14837	protein-coding gene	gene with protein product							Standard	NM_001001657		Approved		uc003mmf.1	Q8NGV0	OTTHUMG00000162237	ENST00000307832.2:c.593T>A	5.37:g.180166466A>T	ENSP00000312403:p.Met198Lys						p.M198K	NM_001001657.1	NP_001001657.1	Q8NGV0	OR2Y1_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		1	633	-	all_cancers(89;1.25e-05)|all_epithelial(37;4.36e-06)|Renal(175;0.000159)|Lung NSC(126;0.00317)|all_lung(126;0.0041)|Breast(19;0.114)	all_cancers(40;0.0834)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	198					B9EIP1|Q6IFB1|Q96R16	Missense_Mutation	SNP	ENST00000307832.2	37	c.593T>A	CCDS34323.1	.	.	.	.	.	.	.	.	.	.	a	15.75	2.924218	0.52653	.	.	ENSG00000174339	ENST00000307832	T	0.00099	8.73	4.41	1.97	0.26223	GPCR, rhodopsin-like superfamily (1);	0.095542	0.46442	D	0.000288	T	0.00328	0.0010	M	0.78223	2.4	0.09310	N	1	D	0.61697	0.99	D	0.63033	0.91	T	0.42849	-0.9427	10	0.87932	D	0	.	6.1712	0.20418	0.6741:0.1664:0.0:0.1595	.	198	Q8NGV0	OR2Y1_HUMAN	K	198	ENSP00000312403:M198K	ENSP00000312403:M198K	M	-	2	0	OR2Y1	180099072	0.009000	0.17119	0.043000	0.18650	0.002000	0.02628	2.282000	0.43461	0.304000	0.22809	0.418000	0.28097	ATG		0.517	OR2Y1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368059.2	XM_068682		4	80	0	0	0	1	0	4	80					T	180166466	A	T	180166466	3	4	4	1	0	0	0	0	1	0	0	0	11035	217	8	5	346	5	OR2Y1	5	180166466	Missense_Mutation	SNP	A	TCGA-2A-A8VV-01A-11D-A377-08		180166466	748794	10	129											
SYNE1	23345	broad.mit.edu	37	chr6	152652957	152652957	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gatcttcaatagcatactttCtctcctgcaatgccaatgct	10	14	5	12	0	3	0	1	0	2	0	5	1	4	0	2	0	5	3	2	0	5	4			TCGA-2A-A8VV-01A-11D-A377-08	TCGA-2A-A8VV-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8ff080c-59c0-40d6-b8b1-4480719d7d17	1a90833f-1b9b-4585-8e45-807709fcf434	g.chr6:152652957C>T	ENST00000367255.5	-	78	13464	c.12863G>A	c.(12862-12864)aGa>aAa	p.R4288K	SYNE1_ENST00000448038.1_Missense_Mutation_p.R4217K|SYNE1_ENST00000341594.5_Missense_Mutation_p.R4153K|SYNE1_ENST00000265368.4_Missense_Mutation_p.R4288K|SYNE1_ENST00000423061.1_Missense_Mutation_p.R4217K	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	4288					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		AGCATACTTTCTCTCCTGCAA	0.373										HNSCC(10;0.0054)																												ENST00000367255.5																			0				NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524						c.(12862-12864)aGa>aAa		spectrin repeat containing, nuclear envelope 1							92	92	92					6																	152652957		2203	4300	6503	SO:0001583	missense	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152652957C>T	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"myocyte nuclear envelope protein 1", "nuclear envelope spectrin repeat-1"	608441	"chromosome 6 open reading frame 98"	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.12863G>A	6.37:g.152652957C>T	ENSP00000356224:p.Arg4288Lys	HNSCC(10;0.0054)				SYNE1_ENST00000423061.1_Missense_Mutation_p.R4217K|SYNE1_ENST00000341594.5_Missense_Mutation_p.R4153K|SYNE1_ENST00000448038.1_Missense_Mutation_p.R4217K|SYNE1_ENST00000265368.4_Missense_Mutation_p.R4288K	p.R4288K	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	78	13464	-		Ovarian(120;0.0955)	4288					E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	c.12863G>A	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	C	12.01	1.808641	0.31961	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594	T;T;T;T;T	0.34275	1.37;1.37;1.37;1.37;1.37	5.66	-0.865	0.10662	.	0.521960	0.18623	N	0.135808	T	0.04407	0.0121	N	0.11560	0.145	0.09310	N	1	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.06405	0.001;0.001;0.001;0.002	T	0.44590	-0.9318	10	0.02654	T	1	.	11.4017	0.49875	0.0:0.5503:0.0:0.4497	.	4288;4288;4288;4217	Q8NF91-7;Q8NF91;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.	K	4288;4217;4288;4217;4153	ENSP00000356224:R4288K;ENSP00000396024:R4217K;ENSP00000265368:R4288K;ENSP00000390975:R4217K;ENSP00000341887:R4153K	ENSP00000265368:R4288K	R	-	2	0	SYNE1	152694650	0.128000	0.22383	0.056000	0.19401	0.975000	0.68041	0.858000	0.27845	-0.063000	0.13065	0.591000	0.81541	AGA		0.373	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		19	50	0	0	0	1	0	19	50					T	152652957	C	T	152652957	3	4	4	1	0	0	0	0	1	0	0	0	15442	913	32	3	13879	3	SYNE1	6	152652957	Missense_Mutation	SNP	C	TCGA-2A-A8VV-01A-11D-A377-08		152652957	18462110	11	130											
IGF2R	3482	broad.mit.edu	37	chr6	160482642	160482642	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agaggactttctatttgagcGtttgcaatcctctcccttac	8	15	7	11	1	2	2	0	1	2	1	4	3	3	3	2	1	3	2	2	1	3	5	rs8191843	byFrequency	TCGA-2A-A8VV-01A-11D-A377-08	TCGA-2A-A8VV-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8ff080c-59c0-40d6-b8b1-4480719d7d17	1a90833f-1b9b-4585-8e45-807709fcf434	g.chr6:160482642G>A	ENST00000356956.1	+	24	3518	c.3370G>A	c.(3370-3372)Gtt>Att	p.V1124I		NM_000876.2	NP_000867	P11717	MPRI_HUMAN	insulin-like growth factor 2 receptor	1124			V -> I (in dbSNP:rs8191843). {ECO:0000269|Ref.5}.		insulin-like growth factor receptor signaling pathway (GO:0048009)|liver development (GO:0001889)|organ regeneration (GO:0031100)|positive regulation of apoptotic process (GO:0043065)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|response to retinoic acid (GO:0032526)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)	cell surface (GO:0009986)|clathrin coat (GO:0030118)|endocytic vesicle (GO:0030139)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)|nuclear envelope lumen (GO:0005641)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network transport vesicle (GO:0030140)	G-protein coupled receptor activity (GO:0004930)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|insulin-like growth factor-activated receptor activity (GO:0005010)|mannose binding (GO:0005537)|phosphoprotein binding (GO:0051219)|receptor activity (GO:0004872)|retinoic acid binding (GO:0001972)|transporter activity (GO:0005215)	p.V1124I(1)		breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Breast(66;0.000777)|Ovarian(120;0.0305)		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)	Mecasermin(DB01277)	CTATTTGAGCGTTTGCAATCC	0.478																																						ENST00000356956.1																			1	Substitution - Missense(1)	p.V1124I(1)	endometrium(1)	breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	95						c.(3370-3372)Gtt>Att		insulin-like growth factor 2 receptor		G	ILE/VAL	0,4406		0,0,2203	186	178	181		3370	5.3	0.6	6	dbSNP_117	181	1,8599	1.2+/-3.3	0,1,4299	yes	missense	IGF2R	NM_000876.2	29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	1124/2492	160482642	1,13005	2203	4300	6503	SO:0001583	missense	3482				receptor-mediated endocytosis	cell surface|endocytic vesicle|endosome|integral to plasma membrane|lysosomal membrane|trans-Golgi network transport vesicle	glycoprotein binding|insulin-like growth factor receptor activity|phosphoprotein binding|transporter activity	g.chr6:160482642G>A	J03528	CCDS5273.1	6q25.3	2014-09-16			ENSG00000197081	ENSG00000197081		"CD molecules"	5467	protein-coding gene	gene with protein product	"cation-independent mannose-6 phosphate receptor"	147280					Standard	NM_000876		Approved	CD222, MPRI, MPR1, CIMPR, M6P-R	uc003qta.3	P11717	OTTHUMG00000015945	ENST00000356956.1:c.3370G>A	6.37:g.160482642G>A	ENSP00000349437:p.Val1124Ile						p.V1124I	NM_000876.2	NP_000867.2	P11717	MPRI_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)	24	3518	+		Breast(66;0.000777)|Ovarian(120;0.0305)	1124		V -> I (in dbSNP:rs8191843).			Q7Z7G9|Q96PT5	Missense_Mutation	SNP	ENST00000356956.1	37	c.3370G>A	CCDS5273.1	.	.	.	.	.	.	.	.	.	.	G	17.51	3.406537	0.62399	0.0	1.16E-4	ENSG00000197081	ENST00000356956	T	0.03745	3.82	5.35	5.35	0.76521	Mannose-6-phosphate receptor, binding (1);	0.000000	0.85682	D	0.000000	T	0.11110	0.0271	M	0.75085	2.285	0.58432	D	0.999998	D	0.89917	1.0	D	0.65323	0.934	T	0.06570	-1.0819	10	0.34782	T	0.22	-7.6027	19.0388	0.92989	0.0:0.0:1.0:0.0	rs8191843;rs8191843	1124	P11717	MPRI_HUMAN	I	1124	ENSP00000349437:V1124I	ENSP00000349437:V1124I	V	+	1	0	IGF2R	160402632	1.000000	0.71417	0.596000	0.28811	0.036000	0.12997	5.852000	0.69488	2.655000	0.90218	0.655000	0.94253	GTT		0.478	IGF2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042931.1	NM_000876		13	148	0	0	0	1	0	13	148					A	160482642	G	A	160482642	3	1	4	1	0	0	0	0	1	0	0	0	7576	1145	40	1	3464	1	IGF2R	6	160482642	Missense_Mutation	SNP	G	TCGA-2A-A8VV-01A-11D-A377-08	7829685	160482642	10632425	12	131											
SAMD9	54809	broad.mit.edu	37	chr7	92731791	92731791	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgagctggagaatttggattGtgtaaagcccaacttctatc	11	13	10	7	0	1	2	0	1	1	1	2	4	1	3	1	2	3	2	1	2	5	5			TCGA-2A-A8VV-01A-11D-A377-08	TCGA-2A-A8VV-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8ff080c-59c0-40d6-b8b1-4480719d7d17	1a90833f-1b9b-4585-8e45-807709fcf434	g.chr7:92731791G>T	ENST00000379958.2	-	3	3889	c.3620C>A	c.(3619-3621)aCa>aAa	p.T1207K		NM_001193307.1|NM_017654.3	NP_001180236.1|NP_060124.2	Q5K651	SAMD9_HUMAN	sterile alpha motif domain containing 9	1207						cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)				NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)			AATTTGGATTGTGTAAAGCCC	0.348																																						ENST00000379958.2																			0				NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						c.(3619-3621)aCa>aAa		sterile alpha motif domain containing 9							124	124	124					7																	92731791		2203	4300	6503	SO:0001583	missense	54809					cytoplasm		g.chr7:92731791G>T	AB095925	CCDS34680.1	7q21.2	2013-01-10	2004-07-15	2004-07-16	ENSG00000205413	ENSG00000205413		"Sterile alpha motif (SAM) domain containing"	1348	protein-coding gene	gene with protein product		610456	"chromosome 7 open reading frame 5"	C7orf5			Standard	NM_017654		Approved	KIAA2004, FLJ20073	uc003umg.3	Q5K651	OTTHUMG00000155809	ENST00000379958.2:c.3620C>A	7.37:g.92731791G>T	ENSP00000369292:p.Thr1207Lys						p.T1207K	NM_001193307.1|NM_017654.3	NP_001180236.1|NP_060124.2	Q5K651	SAMD9_HUMAN	STAD - Stomach adenocarcinoma(171;0.000302)		3	3889	-	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		1207					A2RU68|Q5K649|Q6P080|Q75N21|Q8IVG6|Q9NXS8	Missense_Mutation	SNP	ENST00000379958.2	37	c.3620C>A	CCDS34680.1	.	.	.	.	.	.	.	.	.	.	G	11.75	1.732177	0.30684	.	.	ENSG00000205413	ENST00000379958;ENST00000446617	T;T	0.24350	1.86;2.66	4.54	2.64	0.31445	.	0.481828	0.18946	N	0.126809	T	0.20088	0.0483	L	0.48642	1.525	0.09310	N	1	B	0.29432	0.244	B	0.27076	0.076	T	0.14952	-1.0454	10	0.51188	T	0.08	-3.6652	6.7826	0.23654	0.1549:0.1597:0.6854:0.0	.	1207	Q5K651	SAMD9_HUMAN	K	1207	ENSP00000369292:T1207K;ENSP00000414529:T1207K	ENSP00000369292:T1207K	T	-	2	0	SAMD9	92569727	0.010000	0.17322	0.651000	0.29564	0.876000	0.50452	2.062000	0.41413	1.102000	0.41551	0.511000	0.50034	ACA		0.348	SAMD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341761.1	NM_017654		6	125	1	0	2.0095e-06	1	2.13776e-06	6	125					T	92731791	G	T	92731791	3	4	4	1	0	0	0	0	1	0	0	0	13826	1377	48	5	1153	5	SAMD9	7	92731791	Missense_Mutation	SNP	G	TCGA-2A-A8VV-01A-11D-A377-08		92731791	66406872	13	132											
MUC17	140453	broad.mit.edu	37	chr7	100682353	100682353	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggtcacttctactgaaatCagttcatctgctacatccgc	9	13	7	12	1	5	1	3	1	2	0	6	1	6	1	1	1	3	2	1	1	3	4			TCGA-2A-A8VV-01A-11D-A377-08	TCGA-2A-A8VV-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8ff080c-59c0-40d6-b8b1-4480719d7d17	1a90833f-1b9b-4585-8e45-807709fcf434	g.chr7:100682353C>A	ENST00000306151.4	+	3	7720	c.7656C>A	c.(7654-7656)atC>atA	p.I2552I		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	2552	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CTACTGAAATCAGTTCATCTG	0.502																																						ENST00000306151.4																			0				NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343						c.(7654-7656)atC>atA		mucin 17, cell surface associated							252	252	252					7																	100682353		2203	4300	6503	SO:0001819	synonymous_variant	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100682353C>A	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"Mucins"	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.7656C>A	7.37:g.100682353C>A							p.I2552I	NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN			3	7720	+	Lung NSC(181;0.136)|all_lung(186;0.182)		2552			59 X approximate tandem repeats.|Ser-rich.		O14761|Q685J2|Q8TDH7	Silent	SNP	ENST00000306151.4	37	c.7656C>A	CCDS34711.1																																																																																				0.502	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		74	197	1	0	5.26073e-25	1	5.71818e-25	74	197					A	100682353	C	A	100682353	2	1	4	1	0	0	0	0	0	0	0	1	9974	816	29	5		5	MUC17	7	100682353	Silent	SNP	C	TCGA-2A-A8VV-01A-11D-A377-08	7950562	100682353	58456310	14	133											
PKHD1L1	93035	broad.mit.edu	37	chr8	110452985	110452985	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgttttagaagtgaccagcAtgtttccacaaagaggctcc	12	11	9	9	0	0	3	0	1	0	2	2	3	2	3	3	1	1	4	3	1	3	3	rs531943427		TCGA-2A-A8VV-01A-11D-A377-08	TCGA-2A-A8VV-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8ff080c-59c0-40d6-b8b1-4480719d7d17	1a90833f-1b9b-4585-8e45-807709fcf434	g.chr8:110452985A>C	ENST00000378402.5	+	33	4107	c.4003A>C	c.(4003-4005)Atg>Ctg	p.M1335L		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	1335	IPT/TIG 7.				immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			AGTGACCAGCATGTTTCCACA	0.368										HNSCC(38;0.096)																												ENST00000378402.5																			0				NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263						c.(4003-4005)Atg>Ctg		polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1							163	154	156					8																	110452985		1814	4080	5894	SO:0001583	missense	93035				immune response	cytosol|extracellular space|integral to membrane	receptor activity	g.chr8:110452985A>C	AY219181	CCDS47911.1	8q23	2003-03-28			ENSG00000205038	ENSG00000205038			20313	protein-coding gene	gene with protein product		607843				12620974	Standard	NM_177531		Approved		uc003yne.3	Q86WI1	OTTHUMG00000164934	ENST00000378402.5:c.4003A>C	8.37:g.110452985A>C	ENSP00000367655:p.Met1335Leu	HNSCC(38;0.096)					p.M1335L	NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)		33	4107	+			1335			IPT/TIG 7.		Q567P2|Q9UF27	Missense_Mutation	SNP	ENST00000378402.5	37	c.4003A>C	CCDS47911.1	.	.	.	.	.	.	.	.	.	.	A	6.504	0.461280	0.12342	.	.	ENSG00000205038	ENST00000378402	T	0.74002	-0.8	6.17	2.49	0.30216	Cell surface receptor IPT/TIG (2);Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.259820	0.38897	N	0.001534	T	0.51975	0.1706	N	0.14661	0.345	0.19575	N	0.999961	B	0.10296	0.003	B	0.08055	0.003	T	0.36648	-0.9739	10	0.38643	T	0.18	.	5.2283	0.15408	0.7216:0.0:0.1457:0.1327	.	1335	Q86WI1	PKHL1_HUMAN	L	1335	ENSP00000367655:M1335L	ENSP00000367655:M1335L	M	+	1	0	PKHD1L1	110522161	0.243000	0.23878	0.452000	0.26994	0.935000	0.57460	0.612000	0.24283	0.197000	0.20387	-0.333000	0.08304	ATG		0.368	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381017.1	NM_177531		14	111	0	0	0	1	0	14	111					C	110452985	A	C	110452985	3	2	4	1	0	0	0	0	1	0	0	0	11972	217	8	5	4133	5	PKHD1L1	8	110452985	Missense_Mutation	SNP	A	TCGA-2A-A8VV-01A-11D-A377-08		110452985	35911037	15	134											
PTPRD	5789	broad.mit.edu	37	chr9	8389278	8389278	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcatgacaactgtggcactcCgttgttcccatatcattctc	8	14	6	13	1	3	1	2	1	1	0	6	1	5	1	2	1	1	3	2	1	2	4			TCGA-2A-A8VV-01A-11D-A377-08	TCGA-2A-A8VV-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8ff080c-59c0-40d6-b8b1-4480719d7d17	1a90833f-1b9b-4585-8e45-807709fcf434	g.chr9:8389278C>T	ENST00000381196.4	-	34	4883	c.4340G>A	c.(4339-4341)cGg>cAg	p.R1447Q	PTPRD_ENST00000356435.5_Missense_Mutation_p.R1447Q|PTPRD_ENST00000397606.3_Missense_Mutation_p.R1040Q|PTPRD_ENST00000537002.1_Missense_Mutation_p.R1037Q|PTPRD_ENST00000360074.4_Missense_Mutation_p.R1434Q|PTPRD_ENST00000358503.5_Missense_Mutation_p.R1425Q|PTPRD_ENST00000355233.5_Missense_Mutation_p.R1041Q|PTPRD_ENST00000486161.1_Missense_Mutation_p.R1040Q|PTPRD_ENST00000397611.3_Missense_Mutation_p.R1037Q|PTPRD_ENST00000397617.3_Missense_Mutation_p.R1040Q|PTPRD_ENST00000540109.1_Missense_Mutation_p.R1447Q	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	1447	Tyrosine-protein phosphatase 1. {ECO:0000255|PROSITE-ProRule:PRU00160}.				heterophilic cell-cell adhesion (GO:0007157)|neuron differentiation (GO:0030182)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|positive regulation of dendrite morphogenesis (GO:0050775)|presynaptic membrane assembly (GO:0097105)|protein dephosphorylation (GO:0006470)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	cell adhesion molecule binding (GO:0050839)|receptor binding (GO:0005102)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		TGTGGCACTCCGTTGTTCCCA	0.403										TSP Lung(15;0.13)																												ENST00000381196.4																			0				NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168						c.(4339-4341)cGg>cAg		protein tyrosine phosphatase, receptor type, D							178	172	174					9																	8389278		2203	4300	6503	SO:0001583	missense	5789				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr9:8389278C>T	X54133	CCDS6472.1, CCDS43786.1, CCDS6472.2, CCDS55288.1, CCDS55289.1, CCDS55290.1, CCDS75813.1	9p24.1-p23	2013-02-11			ENSG00000153707	ENSG00000153707		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	9668	protein-coding gene	gene with protein product		601598				7896816, 8355697	Standard	NM_002839		Approved	PTPD, HPTP	uc003zkk.3	P23468	OTTHUMG00000021005	ENST00000381196.4:c.4340G>A	9.37:g.8389278C>T	ENSP00000370593:p.Arg1447Gln	TSP Lung(15;0.13)				PTPRD_ENST00000397606.3_Missense_Mutation_p.R1040Q|PTPRD_ENST00000397611.3_Missense_Mutation_p.R1037Q|PTPRD_ENST00000397617.3_Missense_Mutation_p.R1040Q|PTPRD_ENST00000540109.1_Missense_Mutation_p.R1447Q|PTPRD_ENST00000360074.4_Missense_Mutation_p.R1434Q|PTPRD_ENST00000537002.1_Missense_Mutation_p.R1037Q|PTPRD_ENST00000358503.5_Missense_Mutation_p.R1425Q|PTPRD_ENST00000486161.1_Missense_Mutation_p.R1040Q|PTPRD_ENST00000356435.5_Missense_Mutation_p.R1447Q|PTPRD_ENST00000355233.5_Missense_Mutation_p.R1041Q	p.R1447Q	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)	34	4883	-		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)	1447			Tyrosine-protein phosphatase 1.		B1ALA0|F5GWT7|Q3KPJ0|Q3KPJ1|Q3KPJ2	Missense_Mutation	SNP	ENST00000381196.4	37	c.4340G>A	CCDS43786.1	.	.	.	.	.	.	.	.	.	.	C	28.1	4.892443	0.91889	.	.	ENSG00000153707	ENST00000381196;ENST00000356435;ENST00000360074;ENST00000358503;ENST00000355233;ENST00000397617;ENST00000397611;ENST00000537002;ENST00000346816;ENST00000540109;ENST00000486161;ENST00000397606	T;T;T;T;T;T;T;T;T;T;T	0.30448	1.53;1.53;1.53;1.53;1.53;1.53;1.53;1.53;1.53;1.53;1.53	5.83	5.83	0.93111	Protein-tyrosine phosphatase, receptor/non-receptor type (3);	0.000000	0.85682	D	0.000000	T	0.37046	0.0989	N	0.16266	0.395	0.58432	D	0.999999	D;D;D;D;D;D;P;D;D	0.71674	0.998;0.998;0.998;0.998;0.968;0.998;0.941;0.985;0.97	D;D;D;D;B;P;B;P;B	0.66602	0.945;0.945;0.945;0.945;0.268;0.908;0.398;0.472;0.379	T	0.07888	-1.0749	9	.	.	.	.	15.2257	0.73348	0.0:0.9312:0.0:0.0688	.	1040;1031;1040;1041;1037;1037;1434;1447;1447	Q3KPJ2;Q3KPI9;Q3KPJ0;Q3KPJ1;F5GWT7;F5GWY7;G3XAE2;Q2HXI4;P23468	.;.;.;.;.;.;.;.;PTPRD_HUMAN	Q	1447;1447;1434;1425;1041;1040;1037;1037;918;1447;1040;1040	ENSP00000370593:R1447Q;ENSP00000348812:R1447Q;ENSP00000353187:R1434Q;ENSP00000351293:R1425Q;ENSP00000347373:R1041Q;ENSP00000380741:R1040Q;ENSP00000380735:R1037Q;ENSP00000440515:R1037Q;ENSP00000438164:R1447Q;ENSP00000417093:R1040Q;ENSP00000380731:R1040Q	.	R	-	2	0	PTPRD	8379278	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.027000	0.70881	2.763000	0.94921	0.555000	0.69702	CGG		0.403	PTPRD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055395.3			45	69	0	0	0	1	0	45	69					T	8389278	C	T	8389278	3	4	4	1	0	0	0	0	1	0	0	0	12799	652	23	2	1438	2	PTPRD	9	8389278	Missense_Mutation	SNP	C	TCGA-2A-A8VV-01A-11D-A377-08		8389278	132824153	16	135											
AGAP4	119016	broad.mit.edu	37	chr10	46322027	46322027	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgttttggatcgactgcaggGccatggccttgctctggctg	4	13	14	10	1	1	0	0	0	1	0	2	2	1	1	2	4	2	4	2	4	0	3			TCGA-2A-A8VV-01A-11D-A377-08	TCGA-2A-A8VV-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8ff080c-59c0-40d6-b8b1-4480719d7d17	1a90833f-1b9b-4585-8e45-807709fcf434	g.chr10:46322027G>A	ENST00000448048.2	-	7	1453	c.1328C>T	c.(1327-1329)gCc>gTc	p.A443V	AGAP4_ENST00000430779.2_5'Flank	NM_133446.2	NP_597703.2	Q96P64	AGAP4_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 4	443	Arf-GAP. {ECO:0000255|PROSITE- ProRule:PRU00288}.				regulation of ARF GTPase activity (GO:0032312)		ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)			central_nervous_system(1)|lung(1)|ovary(1)	3						CGACTGCAGGGCCATGGCCTT	0.577																																						ENST00000448048.2																			0				central_nervous_system(1)|lung(1)|ovary(1)	3						c.(1327-1329)gCc>gTc		ArfGAP with GTPase domain, ankyrin repeat and PH domain 4							19	18	18					10																	46322027		1954	3778	5732	SO:0001583	missense	119016				regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding	g.chr10:46322027G>A	AF411132	CCDS7215.1	10q11.21	2014-06-19	2008-09-22	2008-09-22	ENSG00000188234	ENSG00000188234		"ADP-ribosylation factor GTPase activating proteins", "Pleckstrin homology (PH) domain containing", "Ankyrin repeat domain containing"	23459	protein-coding gene	gene with protein product			"centaurin, gamma-like family, member 1", "ArfGAP with GTPase domain, ankyrin repeat and PH domain 8", "centaurin, gamma-like family, member 5"	CTGLF1, AGAP8, CTGLF5		12477932	Standard	XM_005271797		Approved	Em:AC012044.1, MRIP2	uc001jcx.4	Q96P64	OTTHUMG00000018088	ENST00000448048.2:c.1328C>T	10.37:g.46322027G>A	ENSP00000392513:p.Ala443Val						p.A443V	NM_133446.2	NP_597703.2	Q96P64	AGAP4_HUMAN			7	1453	-			443			Arf-GAP.			Missense_Mutation	SNP	ENST00000448048.2	37	c.1328C>T	CCDS7215.1	.	.	.	.	.	.	.	.	.	.	g	10.48	1.362715	0.24684	.	.	ENSG00000188234	ENST00000448048;ENST00000342551	T	0.41400	1.0	.	.	.	.	0.125014	0.52532	D	0.000062	T	0.46386	0.1390	L	0.37466	1.105	0.42070	D	0.991203	D;B;D	0.76494	0.999;0.115;0.999	D;B;D	0.91635	0.996;0.444;0.999	T	0.35251	-0.9796	9	0.49607	T	0.09	.	5.89	0.18904	8.0E-4:0.0:0.9992:0.0	.	466;511;443	C9JRW4;Q5VTM2;Q96P64	.;AGAP9_HUMAN;AGAP4_HUMAN	V	443;219	ENSP00000392513:A443V	ENSP00000343438:A219V	A	-	2	0	AGAP4	45642033	1.000000	0.71417	0.034000	0.17996	0.034000	0.12701	6.435000	0.73412	0.107000	0.17824	0.109000	0.15622	GCC		0.577	AGAP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047799.1	NM_133446		21	66	0	0	0	1	0	21	66					A	46322027	G	A	46322027	3	1	4	1	0	0	0	0	1	0	0	0	370	1203	42	3	667	3	AGAP4	10	46322027	Missense_Mutation	SNP	G	TCGA-2A-A8VV-01A-11D-A377-08		46322027	89212720	17	136											
OR56A3	390083	broad.mit.edu	37	chr11	5968953	5968953	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	catggtcatggcctatgatcGttatgtagccatctgccacc	8	12	9	12	1	2	1	1	1	1	0	3	1	2	1	4	2	2	2	4	2	3	3	rs375483702		TCGA-2A-A8VV-01A-11D-A377-08	TCGA-2A-A8VV-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8ff080c-59c0-40d6-b8b1-4480719d7d17	1a90833f-1b9b-4585-8e45-807709fcf434	g.chr11:5968953G>A	ENST00000329564.6	+	1	384	c.377G>A	c.(376-378)cGt>cAt	p.R126H	AC025016.1_ENST00000528915.1_lincRNA	NM_001003443.2	NP_001003443.2	Q8NH54	O56A3_HUMAN	olfactory receptor, family 56, subfamily A, member 3	126						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(27)|stomach(1)|upper_aerodigestive_tract(1)	41		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;9.41e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GCCTATGATCGTTATGTAGCC	0.458																																						ENST00000329564.6																			0				endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(27)|stomach(1)|upper_aerodigestive_tract(1)	41						c.(376-378)cGt>cAt		olfactory receptor, family 56, subfamily A, member 3							175	167	169					11																	5968953		2201	4296	6497	SO:0001583	missense	390083				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5968953G>A		CCDS41614.1	11p15.4	2012-08-09		2004-03-10	ENSG00000184478	ENSG00000184478		"GPCR / Class A : Olfactory receptors"	14786	protein-coding gene	gene with protein product				OR56A6, OR56A3P			Standard	NM_001003443		Approved		uc010qzt.2	Q8NH54	OTTHUMG00000165373	ENST00000329564.6:c.377G>A	11.37:g.5968953G>A	ENSP00000331572:p.Arg126His						p.R126H	NM_001003443.2	NP_001003443.2	Q8NH54	O56A3_HUMAN		Epithelial(150;9.41e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	384	+		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)	126					A6NN77|Q6IFF7	Missense_Mutation	SNP	ENST00000329564.6	37	c.377G>A	CCDS41614.1	.	.	.	.	.	.	.	.	.	.	G	11.55	1.673542	0.29693	.	.	ENSG00000184478	ENST00000329564	T	0.77489	-1.1	5.13	4.23	0.50019	GPCR, rhodopsin-like superfamily (1);	0.000000	0.28119	U	0.016527	D	0.82632	0.5079	M	0.93150	3.385	0.38884	D	0.956973	B	0.31730	0.337	B	0.30572	0.117	D	0.85506	0.1194	10	0.66056	D	0.02	-10.7749	13.3558	0.60627	0.0775:0.0:0.9225:0.0	.	126	Q8NH54	O56A3_HUMAN	H	126	ENSP00000331572:R126H	ENSP00000331572:R126H	R	+	2	0	OR56A3	5925529	0.996000	0.38824	0.992000	0.48379	0.097000	0.18754	4.122000	0.57910	1.385000	0.46445	-0.201000	0.12746	CGT		0.458	OR56A3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383753.1	NM_001003443		8	160	0	0	0	1	0	8	160					A	5968953	G	A	5968953	3	1	4	1	0	0	0	0	1	0	0	0	11134	1145	40	1	379	1	OR56A3	11	5968953	Missense_Mutation	SNP	G	TCGA-2A-A8VV-01A-11D-A377-08		5968953	129037563	18	137											
SLC17A6	57084	broad.mit.edu	37	chr11	22382484	22382484	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	catgggatatggagcaaatgGgccccacctctagagaggag	12	6	14	9	0	1	1	0	0	1	1	1	5	1	4	3	4	1	1	3	4	3	2			TCGA-2A-A8VV-01A-11D-A377-08	TCGA-2A-A8VV-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8ff080c-59c0-40d6-b8b1-4480719d7d17	1a90833f-1b9b-4585-8e45-807709fcf434	g.chr11:22382484G>A	ENST00000263160.3	+	5	1052	c.615G>A	c.(613-615)tgG>tgA	p.W205*	CTD-2140G10.4_ENST00000534543.1_RNA	NM_020346.2	NP_065079.1	Q9P2U8	VGLU2_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 6	205					ion transport (GO:0006811)|neurotransmitter uptake (GO:0001504)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|synaptic vesicle membrane (GO:0030672)	L-glutamate transmembrane transporter activity (GO:0005313)|symporter activity (GO:0015293)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)	50						GGAGCAAATGGGCCCCACCTC	0.478																																						ENST00000263160.3																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)	50						c.(613-615)tgG>tgA		solute carrier family 17 (vesicular glutamate transporter), member 6							154	114	128					11																	22382484		2203	4300	6503	SO:0001587	stop_gained	57084				sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity	g.chr11:22382484G>A	AB032435	CCDS7856.1	11p14.3	2013-07-18	2013-07-18		ENSG00000091664	ENSG00000091664		"Solute carriers"	16703	protein-coding gene	gene with protein product	"vesicular glutamate transporter 2", "differentiation-associated Na-dependent inorganic phosphate cotransporter"	607563	"solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 6"			11306821	Standard	NM_020346		Approved	DNPI, VGLUT2	uc001mqk.3	Q9P2U8	OTTHUMG00000166063	ENST00000263160.3:c.615G>A	11.37:g.22382484G>A	ENSP00000263160:p.Trp205*						p.W205*	NM_020346.2	NP_065079.1	Q9P2U8	VGLU2_HUMAN			5	1052	+			205					A6NKS2	Nonsense_Mutation	SNP	ENST00000263160.3	37	c.615G>A	CCDS7856.1	.	.	.	.	.	.	.	.	.	.	G	41	8.734002	0.98933	.	.	ENSG00000091664	ENST00000263160;ENST00000546171	.	.	.	5.49	5.49	0.81192	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.7347	0.96198	0.0:0.0:1.0:0.0	.	.	.	.	X	205;93	.	ENSP00000263160:W205X	W	+	3	0	SLC17A6	22339060	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.768000	0.98965	2.746000	0.94184	0.655000	0.94253	TGG		0.478	SLC17A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387671.1	NM_020346		3	33	0	0	0	1	0	3	33					A	22382484	G	A	22382484	4	1	4	1	0	0	0	0	0	1	0	0	14421	1241	43	3	633	3	SLC17A6	11	22382484	Nonsense_Mutation	SNP	G	TCGA-2A-A8VV-01A-11D-A377-08	16413531	22382484	112624032	19	138											
OR5L1	219437	broad.mit.edu	37	chr11	55579363	55579363	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcaccatgtcttggaaggtgCgtgtggagctggcttcttgc	5	13	14	9	1	3	0	1	0	2	0	3	2	3	2	1	4	3	2	1	4	1	3	rs372180673		TCGA-2A-A8VV-01A-11D-A377-08	TCGA-2A-A8VV-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8ff080c-59c0-40d6-b8b1-4480719d7d17	1a90833f-1b9b-4585-8e45-807709fcf434	g.chr11:55579363C>T	ENST00000333973.2	+	1	510	c.421C>T	c.(421-423)Cgt>Tgt	p.R141C		NM_001004738.1	NP_001004738.1	Q8NGL2	OR5L1_HUMAN	olfactory receptor, family 5, subfamily L, member 1	141						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(4)|liver(4)|lung(36)|ovary(2)|pancreas(1)|prostate(5)|skin(9)|stomach(4)|upper_aerodigestive_tract(3)	78		all_epithelial(135;0.208)				TTGGAAGGTGCGTGTGGAGCT	0.498																																						ENST00000333973.2																			0				NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(4)|liver(4)|lung(36)|ovary(2)|pancreas(1)|prostate(5)|skin(9)|stomach(4)|upper_aerodigestive_tract(3)	78						c.(421-423)Cgt>Tgt		olfactory receptor, family 5, subfamily L, member 1							217	174	189					11																	55579363		2200	4296	6496	SO:0001583	missense	219437				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55579363C>T	AB065780	CCDS31509.1	11q11	2012-08-09			ENSG00000186117	ENSG00000186117		"GPCR / Class A : Olfactory receptors"	8350	protein-coding gene	gene with protein product							Standard	NM_001004738		Approved	OST262	uc001nhw.1	Q8NGL2	OTTHUMG00000166810	ENST00000333973.2:c.421C>T	11.37:g.55579363C>T	ENSP00000335529:p.Arg141Cys						p.R141C	NM_001004738.1	NP_001004738.1	Q8NGL2	OR5L1_HUMAN			1	510	+		all_epithelial(135;0.208)	141					B2RNK6|Q6IFD0	Missense_Mutation	SNP	ENST00000333973.2	37	c.421C>T	CCDS31509.1	.	.	.	.	.	.	.	.	.	.	t	0.012	-1.658582	0.00779	.	.	ENSG00000186117	ENST00000333973	T	0.34275	1.37	3.98	1.61	0.23674	GPCR, rhodopsin-like superfamily (1);	0.359275	0.24386	N	0.038975	T	0.05868	0.0153	N	0.00065	-2.305	0.09310	N	1	B	0.06786	0.001	B	0.09377	0.004	T	0.42916	-0.9423	10	0.02654	T	1	-1.0929	9.8759	0.41202	0.0:0.0985:0.0:0.9015	.	141	Q8NGL2	OR5L1_HUMAN	C	141	ENSP00000335529:R141C	ENSP00000335529:R141C	R	+	1	0	OR5L1	55335939	0.084000	0.21492	0.001000	0.08648	0.005000	0.04900	0.517000	0.22832	0.026000	0.15269	-1.420000	0.01111	CGT		0.498	OR5L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391514.1	NM_001004738		6	120	0	0	0	1	0	6	120					T	55579363	C	T	55579363	3	4	4	1	0	0	0	0	1	0	0	0	11170	768	27	1	423	1	OR5L1	11	55579363	Missense_Mutation	SNP	C	TCGA-2A-A8VV-01A-11D-A377-08	33196879	55579363	79427153	20	139											
OR8I2	120586	broad.mit.edu	37	chr11	55861503	55861503	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cagaaggccttctccacctgCgcatcccacctcatggctgt	7	9	8	17	1	2	1	1	0	1	1	4	1	3	1	5	2	1	2	5	2	1	1	rs141691557		TCGA-2A-A8VV-01A-11D-A377-08	TCGA-2A-A8VV-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8ff080c-59c0-40d6-b8b1-4480719d7d17	1a90833f-1b9b-4585-8e45-807709fcf434	g.chr11:55861503C>T	ENST00000302124.2	+	1	751	c.720C>T	c.(718-720)tgC>tgT	p.C240C		NM_001003750.1	NP_001003750.1	Q8N0Y5	OR8I2_HUMAN	olfactory receptor, family 8, subfamily I, member 2	240						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(24)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	53	Esophageal squamous(21;0.00693)					TCTCCACCTGCGCATCCCACC	0.493																																						ENST00000302124.2																			0				NS(1)|breast(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(24)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	53						c.(718-720)tgC>tgT		olfactory receptor, family 8, subfamily I, member 2		C		0,4402		0,0,2201	149	138	142		720	1.8	0.5	11	dbSNP_134	142	1,8591	1.2+/-3.3	0,1,4295	no	coding-synonymous	OR8I2	NM_001003750.1		0,1,6496	TT,TC,CC		0.0116,0.0,0.0077		240/311	55861503	1,12993	2201	4296	6497	SO:0001819	synonymous_variant	120586				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55861503C>T	AB065656	CCDS31517.1	11q11	2012-08-09			ENSG00000172154	ENSG00000172154		"GPCR / Class A : Olfactory receptors"	15310	protein-coding gene	gene with protein product							Standard	NM_001003750		Approved		uc010rix.2	Q8N0Y5	OTTHUMG00000166831	ENST00000302124.2:c.720C>T	11.37:g.55861503C>T						OR8I2_ENST00000560768.1_3'UTR	p.C240C			Q8N0Y5	OR8I2_HUMAN			1	751	+	Esophageal squamous(21;0.00693)		240					B2RNN4|Q6IFC0|Q96RC5	Silent	SNP	ENST00000302124.2	37	c.720C>T	CCDS31517.1																																																																																				0.493	OR8I2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001003750		45	47	0	0	0	1	0	45	47					T	55861503	C	T	55861503	2	4	4	1	0	0	0	0	0	0	0	1	11240	776	27	1		1	OR8I2	11	55861503	Silent	SNP	C	TCGA-2A-A8VV-01A-11D-A377-08	282140	55861503	79145013	21	140											
MYO7A	4647	broad.mit.edu	37	chr11	76873971	76873971	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaactacatcccccccaagAacaaccatgagacccagttt	14	6	4	17	0	0	2	0	1	0	2	1	3	1	2	6	0	4	1	6	0	5	2			TCGA-2A-A8VV-01A-11D-A377-08	TCGA-2A-A8VV-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8ff080c-59c0-40d6-b8b1-4480719d7d17	1a90833f-1b9b-4585-8e45-807709fcf434	g.chr11:76873971A>T	ENST00000409709.3	+	14	1899	c.1627A>T	c.(1627-1629)Aac>Tac	p.N543Y	MYO7A_ENST00000458637.2_Missense_Mutation_p.N543Y|MYO7A_ENST00000409893.1_Missense_Mutation_p.N543Y|MYO7A_ENST00000409619.2_Missense_Mutation_p.N532Y	NM_000260.3	NP_000251.3	Q13402	MYO7A_HUMAN	myosin VIIA	543	Myosin motor.				actin filament-based movement (GO:0030048)|auditory receptor cell stereocilium organization (GO:0060088)|equilibrioception (GO:0050957)|eye photoreceptor cell development (GO:0042462)|intracellular protein transport (GO:0006886)|lysosome organization (GO:0007040)|metabolic process (GO:0008152)|phagolysosome assembly (GO:0001845)|pigment granule transport (GO:0051904)|post-embryonic organ morphogenesis (GO:0048563)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|melanosome (GO:0042470)|myosin VII complex (GO:0031477)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|stereocilium (GO:0032420)|synapse (GO:0045202)	actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|spectrin binding (GO:0030507)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						CCCCCCCAAGAACAACCATGA	0.572																																						ENST00000409709.3																			0				NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						c.(1627-1629)Aac>Tac		myosin VIIA							213	235	228					11																	76873971		2099	4215	6314	SO:0001583	missense	4647				actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception	cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse	actin binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr11:76873971A>T	U39226	CCDS53683.1, CCDS53684.1, CCDS53685.1	11q13.5	2013-01-08	2005-09-12		ENSG00000137474	ENSG00000137474		"A-kinase anchor proteins", "Myosins / Myosin superfamily : Class VII"	7606	protein-coding gene	gene with protein product		276903	"myosin VIIA (Usher syndrome 1B (autosomal recessive, severe))"	USH1B, DFNB2, DFNA11		8884266	Standard	NM_000260		Approved	NSRD2	uc001oyb.2	Q13402	OTTHUMG00000152822	ENST00000409709.3:c.1627A>T	11.37:g.76873971A>T	ENSP00000386331:p.Asn543Tyr					MYO7A_ENST00000409893.1_Missense_Mutation_p.N543Y|MYO7A_ENST00000409619.2_Missense_Mutation_p.N532Y|MYO7A_ENST00000458637.2_Missense_Mutation_p.N543Y	p.N543Y	NM_000260.3	NP_000251.3	Q13402	MYO7A_HUMAN			14	1899	+			543			Myosin head-like.		B9A011|F8VUN5|P78427|Q13321|Q14785|Q92821|Q92822	Missense_Mutation	SNP	ENST00000409709.3	37	c.1627A>T	CCDS53683.1	.	.	.	.	.	.	.	.	.	.	A	18.34	3.602687	0.66445	.	.	ENSG00000137474	ENST00000409709;ENST00000409893;ENST00000458637;ENST00000409619;ENST00000358342;ENST00000343356;ENST00000343419	D;D;D;D	0.87571	-2.27;-2.27;-2.27;-2.27	5.02	5.02	0.67125	Myosin head, motor domain (2);	0.000000	0.85682	D	0.000000	D	0.88691	0.6505	M	0.66506	2.035	0.58432	D	0.999999	B;B;P	0.40794	0.1;0.2;0.729	B;B;P	0.47470	0.088;0.139;0.548	D	0.87125	0.2193	10	0.29301	T	0.29	.	14.8886	0.70590	1.0:0.0:0.0:0.0	.	543;543;543	B9A012;F8VUN5;Q13402	.;.;MYO7A_HUMAN	Y	543;543;543;532;542;542;542	ENSP00000386331:N543Y;ENSP00000386689:N543Y;ENSP00000392185:N543Y;ENSP00000386635:N532Y	ENSP00000340325:N542Y	N	+	1	0	MYO7A	76551619	1.000000	0.71417	1.000000	0.80357	0.924000	0.55760	5.608000	0.67654	2.107000	0.64212	0.402000	0.26972	AAC		0.572	MYO7A-001	KNOWN	non_canonical_conserved|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000328133.1	NM_000260		8	153	0	0	0	1	0	8	153					T	76873971	A	T	76873971	3	4	4	1	0	0	0	0	1	0	0	0	10082	246	9	5	1677	5	MYO7A	11	76873971	Missense_Mutation	SNP	A	TCGA-2A-A8VV-01A-11D-A377-08	21012468	76873971	58132545	22	141											
SBNO1	55206	broad.mit.edu	37	chr12	123780522	123780522	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atagctgtttctgttggaccGcaagctgttgagactggtct	7	14	12	8	1	2	1	0	1	2	1	2	3	2	2	1	2	2	6	1	2	2	4			TCGA-2A-A8VV-01A-11D-A377-08	TCGA-2A-A8VV-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8ff080c-59c0-40d6-b8b1-4480719d7d17	1a90833f-1b9b-4585-8e45-807709fcf434	g.chr12:123780522G>A	ENST00000602398.1	-	32	4242	c.4115C>T	c.(4114-4116)gCg>gTg	p.A1372V	SBNO1_ENST00000602750.1_Missense_Mutation_p.A1371V|SBNO1_ENST00000420886.2_Missense_Mutation_p.A1372V|SBNO1_ENST00000267176.4_Missense_Mutation_p.A1371V			A3KN83	SBNO1_HUMAN	strawberry notch homolog 1 (Drosophila)	1372					regulation of transcription, DNA-templated (GO:0006355)			p.A1371V(2)		NS(2)|breast(6)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(11)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(2)	62	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197)		CTGTTGGACCGCAAGCTGTTG	0.433																																						ENST00000420886.2																			2	Substitution - Missense(2)	p.A1371V(2)	lung(1)|prostate(1)	NS(2)|breast(6)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(11)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(2)	62						c.(4114-4116)gCg>gTg		strawberry notch homolog 1 (Drosophila)							340	303	316					12																	123780522		2203	4300	6503	SO:0001583	missense	55206						ATP binding|DNA binding|hydrolase activity	g.chr12:123780522G>A	AK001563	CCDS9246.1, CCDS53844.1	12q24.31	2006-10-06	2006-10-06			ENSG00000139697			22973	protein-coding gene	gene with protein product		614274	"sno, strawberry notch homolog 1 (Drosophila)"				Standard	NM_018183		Approved	MOP3, FLJ10701, FLJ10833, Sno	uc010tap.2	A3KN83		ENST00000602398.1:c.4115C>T	12.37:g.123780522G>A	ENSP00000473665:p.Ala1372Val					SBNO1_ENST00000267176.4_Missense_Mutation_p.A1371V|SBNO1_ENST00000602398.1_Missense_Mutation_p.A1372V|SBNO1_ENST00000602750.1_Missense_Mutation_p.A1371V	p.A1372V	NM_001167856.1	NP_001161328.1	A3KN83	SBNO1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197)	31	4114	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		1372					Q05C06|Q3ZTS3|Q9H3T8|Q9NVB2	Missense_Mutation	SNP	ENST00000602398.1	37	c.4115C>T	CCDS53844.1	.	.	.	.	.	.	.	.	.	.	G	25.3	4.622923	0.87460	.	.	ENSG00000139697	ENST00000420886;ENST00000267176	T;T	0.32515	1.45;1.45	6.04	6.04	0.98038	.	0.000000	0.85682	D	0.000000	T	0.45236	0.1332	L	0.27053	0.805	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.73708	0.959;0.981	T	0.12785	-1.0534	10	0.33940	T	0.23	-19.465	20.5792	0.99380	0.0:0.0:1.0:0.0	.	1372;1371	A3KN83;A3KN83-2	SBNO1_HUMAN;.	V	1372;1371	ENSP00000387361:A1372V;ENSP00000267176:A1371V	ENSP00000267176:A1371V	A	-	2	0	SBNO1	122346475	1.000000	0.71417	0.790000	0.31976	0.976000	0.68499	9.431000	0.97494	2.873000	0.98535	0.561000	0.74099	GCG		0.433	SBNO1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000467684.1	NM_018183		5	221	0	0	0	1	0	5	221					A	123780522	G	A	123780522	3	1	4	1	0	0	0	0	1	0	0	0	13862	1087	38	1	70	1	SBNO1	12	123780522	Missense_Mutation	SNP	G	TCGA-2A-A8VV-01A-11D-A377-08		123780522	10071373	23	142											
TUBGCP3	10426	broad.mit.edu	37	chr13	113223466	113223466	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	catttaagaaaaatacgtacGctctttcttgattttttcag	12	17	5	7	2	3	2	1	1	2	1	3	2	3	2	0	0	2	2	0	0	5	9			TCGA-2A-A8VV-01A-11D-A377-08	TCGA-2A-A8VV-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8ff080c-59c0-40d6-b8b1-4480719d7d17	1a90833f-1b9b-4585-8e45-807709fcf434	g.chr13:113223466G>A	ENST00000261965.3	-	2	370	c.184C>T	c.(184-186)Ctt>Ttt	p.L62F	TUBGCP3_ENST00000375669.3_Splice_Site_p.L62F	NM_006322.4	NP_006313.1	Q96CW5	GCP3_HUMAN	tubulin, gamma complex associated protein 3	62					G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)|single fertilization (GO:0007338)	centriole (GO:0005814)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|polar microtubule (GO:0005827)|spindle (GO:0005819)	gamma-tubulin binding (GO:0043015)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|urinary_tract(1)	25	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)					AAATACGTACGCTCTTTCTTG	0.413																																						ENST00000261965.3																			0				central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|urinary_tract(1)	25						c.e2+1		tubulin, gamma complex associated protein 3							111	101	104					13																	113223466		2203	4300	6503	SO:0001630	splice_region_variant	10426				G2/M transition of mitotic cell cycle|microtubule nucleation|single fertilization	centriole|cytosol|polar microtubule	gamma-tubulin binding|structural constituent of cytoskeleton	g.chr13:113223466G>A	AF042378	CCDS9525.1, CCDS66584.1, CCDS73599.1	13q34	2008-07-18			ENSG00000126216	ENSG00000126216			18598	protein-coding gene	gene with protein product	"spindle pole body protein"					9566967, 9566969	Standard	XM_005268293		Approved	GCP3, Spc98p, SPBC98	uc001vse.1	Q96CW5	OTTHUMG00000017367	ENST00000261965.3:c.184+1C>T	13.37:g.113223466G>A						TUBGCP3_ENST00000375669.3_Splice_Site_p.L62_splice	p.L62_splice	NM_006322.4	NP_006313.1	Q96CW5	GCP3_HUMAN			2	370	-	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)		62					O43631|O60852|O60853|Q5T8L2|Q7Z4K1|Q96I79	Splice_Site	SNP	ENST00000261965.3	37	c.184_splice	CCDS9525.1	.	.	.	.	.	.	.	.	.	.	G	13.50	2.256452	0.39896	.	.	ENSG00000126216	ENST00000261965;ENST00000375669	T;T	0.60299	0.26;0.2	4.98	4.14	0.48551	.	0.066112	0.64402	D	0.000014	T	0.47875	0.1469	L	0.52905	1.665	0.50313	D	0.999865	B;P;B;B	0.42941	0.063;0.794;0.306;0.1	B;B;B;B	0.36959	0.011;0.237;0.058;0.011	T	0.43702	-0.9375	9	.	.	.	-16.4444	9.4703	0.38837	0.1632:0.0:0.8368:0.0	.	62;62;62;62	B4DYP7;Q96CW5-3;Q96CW5-2;Q96CW5	.;.;.;GCP3_HUMAN	F	62	ENSP00000261965:L62F;ENSP00000364821:L62F	.	L	-	1	0	TUBGCP3	112271467	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.066000	0.30604	1.120000	0.41904	0.536000	0.68110	CTT		0.413	TUBGCP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045825.2	NM_006322	Missense_Mutation	9	31	0	0	0	1	0	9	31					A	113223466	G	A	113223466	5	1	4	1	0	0	0	0	0	0	1	0	16764	1101	38	1	2623	1	TUBGCP3	13	113223466	Splice_Site	SNP	G	TCGA-2A-A8VV-01A-11D-A377-08		113223466	1946412	24	143											
SUPT16H	11198	broad.mit.edu	37	chr14	21820850	21820850	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agttacttcctctttttcttGgggggtgcagagctgtgtct	4	17	12	8	0	3	1	0	0	3	1	4	1	4	1	1	3	3	3	1	3	1	5			TCGA-2A-A8VV-01A-11D-A377-08	TCGA-2A-A8VV-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8ff080c-59c0-40d6-b8b1-4480719d7d17	1a90833f-1b9b-4585-8e45-807709fcf434	g.chr14:21820850G>T	ENST00000216297.2	-	26	3464	c.3126C>A	c.(3124-3126)ccC>ccA	p.P1042P		NM_007192.3	NP_009123.1	Q9Y5B9	SP16H_HUMAN	suppressor of Ty 16 homolog (S. cerevisiae)	1042					DNA repair (GO:0006281)|DNA replication (GO:0006260)|gene expression (GO:0010467)|nucleosome disassembly (GO:0006337)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|positive regulation of viral transcription (GO:0050434)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_cancers(95;0.00115)		Epithelial(56;1.62e-06)|all cancers(55;1.49e-05)	GBM - Glioblastoma multiforme(265;0.0159)		TCTTTTTCTTGGGGGGTGCAG	0.483																																						ENST00000216297.2																			0				breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27						c.(3124-3126)ccC>ccA		suppressor of Ty 16 homolog (S. cerevisiae)							146	147	147					14																	21820850		2203	4300	6503	SO:0001819	synonymous_variant	11198				DNA repair|DNA replication|nucleosome disassembly|positive regulation of transcription elongation, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	chromosome|nucleoplasm	GTP binding	g.chr14:21820850G>T	AF152961	CCDS9569.1	14q11.1	2008-08-13	2001-11-28		ENSG00000092201	ENSG00000092201			11465	protein-coding gene	gene with protein product	"facilitates chromatin remodeling 140 kDa subunit"	605012	"suppressor of Ty (S.cerevisiae) 16 homolog"			9489704, 11239457	Standard	NM_007192		Approved	FACT, FACTP140, SPT16/CDC68, FLJ14010, FLJ10857, CDC68	uc001wao.2	Q9Y5B9	OTTHUMG00000029685	ENST00000216297.2:c.3126C>A	14.37:g.21820850G>T							p.P1042P	NM_007192.3	NP_009123.1	Q9Y5B9	SP16H_HUMAN	Epithelial(56;1.62e-06)|all cancers(55;1.49e-05)	GBM - Glioblastoma multiforme(265;0.0159)	26	3464	-	all_cancers(95;0.00115)		1042					Q6GMT8|Q6P2F1|Q6PJM1|Q9NRX0	Silent	SNP	ENST00000216297.2	37	c.3126C>A	CCDS9569.1																																																																																				0.483	SUPT16H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000074025.2			4	172	1	0	0.00909568	1	0.00909568	4	172					T	21820850	G	T	21820850	2	4	4	1	0	0	0	0	0	0	0	1	15393	1335	47	5		5	SUPT16H	14	21820850	Silent	SNP	G	TCGA-2A-A8VV-01A-11D-A377-08		21820850	85528690	25	144											
MAGEL2	54551	broad.mit.edu	37	chr15	23889170	23889170	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggggcctgctggtggggccGtgggcactgtcaccggtgtc	2	8	20	11	2	1	0	1	0	0	0	2	0	1	0	3	7	1	2	3	7	0	0	rs368278417		TCGA-2A-A8VV-01A-11D-A377-08	TCGA-2A-A8VV-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8ff080c-59c0-40d6-b8b1-4480719d7d17	1a90833f-1b9b-4585-8e45-807709fcf434	g.chr15:23889170G>A	ENST00000532292.1	-	1	2005	c.1911C>T	c.(1909-1911)caC>caT	p.H637H		NM_019066.4	NP_061939.3	Q9UJ55	MAGL2_HUMAN	MAGE-like 2	520					Arp2/3 complex-mediated actin nucleation (GO:0034314)|protein K63-linked ubiquitination (GO:0070534)|retrograde transport, endosome to Golgi (GO:0042147)	endosome (GO:0005768)	ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;1.84e-06)|Epithelial(43;1.2e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)		TGGTGGGGCCGTGGGCACTGT	0.587																																						ENST00000532292.1																			0				breast(1)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7						c.(1909-1911)caC>caT		MAGE-like 2		G		0,4092		0,0,2046	35	39	37		3720	-8.4	0	15		37	1,8375		0,1,4187	no	coding-synonymous	MAGEL2	NM_019066.4		0,1,6233	AA,AG,GG		0.0119,0.0,0.0080		1240/1250	23889170	1,12467	2046	4188	6234	SO:0001819	synonymous_variant	54551							g.chr15:23889170G>A	AJ243531	CCDS73700.1	15q11-q12	2008-07-18				ENSG00000254585			6814	protein-coding gene	gene with protein product		605283		NDNL1		10556298	Standard	NM_019066		Approved	nM15	uc001ywj.4	Q9UJ55		ENST00000532292.1:c.1911C>T	15.37:g.23889170G>A							p.H637H	NM_019066.4	NP_061939.3				all cancers(64;1.84e-06)|Epithelial(43;1.2e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)	1	2005	-		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)							Silent	SNP	ENST00000532292.1	37	c.1911C>T		.	.	.	.	.	.	.	.	.	.	G	0.007	-1.940585	0.00479	0.0	1.19E-4	ENSG00000254585	ENST00000532292	.	.	.	4.28	-8.39	0.00969	.	.	.	.	.	T	0.25232	0.0613	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.28396	-1.0045	4	.	.	.	.	8.2508	0.31717	0.2078:0.2276:0.5645:0.0	.	.	.	.	M	669	.	.	T	-	2	0	MAGEL2	21440263	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.211000	0.01226	-1.963000	0.01013	-1.084000	0.02203	ACG		0.587	MAGEL2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000395182.2	NM_019066		4	29	0	0	0	1	0	4	29					A	23889170	G	A	23889170	2	1	4	1	0	0	0	0	0	0	0	1	9189	1136	40	1		1	MAGEL2	15	23889170	Silent	SNP	G	TCGA-2A-A8VV-01A-11D-A377-08		23889170	78642222	26	145											
CEP152	22995	broad.mit.edu	37	chr15	49059645	49059645	+	Nonsense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atggcttcatggtgctgctgAtaagtcctttcacacctgga	8	13	10	10	0	2	1	2	1	0	0	3	2	3	2	2	3	2	3	2	3	1	3	rs182018947	byFrequency	TCGA-2A-A8VV-01A-11D-A377-08	TCGA-2A-A8VV-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8ff080c-59c0-40d6-b8b1-4480719d7d17	1a90833f-1b9b-4585-8e45-807709fcf434	g.chr15:49059645A>C	ENST00000380950.2	-	16	2221	c.2034T>G	c.(2032-2034)taT>taG	p.Y678*	CEP152_ENST00000559398.1_5'Flank|CEP152_ENST00000325747.5_Nonsense_Mutation_p.Y585*|CEP152_ENST00000399334.3_Nonsense_Mutation_p.Y678*	NM_001194998.1|NM_014985.3	NP_001181927.1|NP_055800.2	O94986	CE152_HUMAN	centrosomal protein 152kDa	678					cell projection organization (GO:0030030)|centriole replication (GO:0007099)|centrosome duplication (GO:0051298)|de novo centriole assembly (GO:0098535)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytosol (GO:0005829)|deuterosome (GO:0098536)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)			breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(16)|lung(30)|ovary(1)|prostate(2)|skin(2)	63		all_lung(180;0.0428)		all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06)		GGTGCTGCTGATAAGTCCTTT	0.458													a|||	3	0.000599042	0.0015	0	5008	,	,		18866	0		0	False		,,,				2504	0.001					ENST00000380950.2																			0				breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(16)|lung(30)|ovary(1)|prostate(2)|skin(2)	63						c.(2032-2034)taT>taG		centrosomal protein 152kDa		G	stop/TYR,stop/TYR	7,3969		0,7,1981	133	127	129		2034,2034	0	1	15		129	2,8364		0,2,4181	yes	stop-gained,stop-gained	CEP152	NM_001194998.1,NM_014985.3	,	0,9,6162	CC,CA,AA		0.0239,0.1761,0.0729	,	678/1711,678/1655	49059645	9,12333	1988	4183	6171	SO:0001587	stop_gained	22995				centrosome duplication|G2/M transition of mitotic cell cycle	centrosome|cytosol	protein kinase binding	g.chr15:49059645A>C	AB020719	CCDS42033.1, CCDS58361.1	15q21.1	2014-02-20							29298	protein-coding gene	gene with protein product	"asterless"	613529	"microcephaly, primary autosomal recessive 4"	MCPH4		14654843, 21131973	Standard	NM_014985		Approved	KIAA0912, SCKL5	uc001zwz.3	O94986		ENST00000380950.2:c.2034T>G	15.37:g.49059645A>C	ENSP00000370337:p.Tyr678*					CEP152_ENST00000325747.5_Nonsense_Mutation_p.Y585*|CEP152_ENST00000399334.3_Nonsense_Mutation_p.Y678*	p.Y678*	NM_001194998.1|NM_014985.3	NP_001181927.1|NP_055800.2	O94986	CE152_HUMAN		all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06)	16	2221	-		all_lung(180;0.0428)	678					E7ER66|Q17RV1|Q6NTA0	Nonsense_Mutation	SNP	ENST00000380950.2	37	c.2034T>G	CCDS58361.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	a	39	7.802631	0.98498	0.001761	2.39E-4	ENSG00000103995	ENST00000380950;ENST00000325747;ENST00000399334	.	.	.	5.66	0.03	0.14165	.	0.207502	0.42682	D	0.000680	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-10.1793	12.2854	0.54789	0.3429:0.0:0.657:0.0	.	.	.	.	X	678;585;678	.	ENSP00000321000:Y585X	Y	-	3	2	CEP152	46846937	0.042000	0.20092	0.998000	0.56505	0.904000	0.53231	-1.025000	0.03600	0.091000	0.17302	-1.626000	0.00786	TAT		0.458	CEP152-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417365.1	NM_014985		21	33	0	0	0	1	0	21	33					C	49059645	A	C	49059645	4	2	4	1	0	0	0	0	0	1	0	0	3248	340	12	5	2974	5	CEP152	15	49059645	Nonsense_Mutation	SNP	A	TCGA-2A-A8VV-01A-11D-A377-08	25170475	49059645	53471747	27	146											
DNAJC7	7266	broad.mit.edu	37	chr17	40149135	40149135	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gccccattacatacatacccGgacaaaactgtcatccaacc	14	7	4	16	1	1	0	1	0	0	0	2	1	2	1	5	1	5	0	5	1	6	3			TCGA-2A-A8VV-01A-11D-A377-08	TCGA-2A-A8VV-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8ff080c-59c0-40d6-b8b1-4480719d7d17	1a90833f-1b9b-4585-8e45-807709fcf434	g.chr17:40149135G>A	ENST00000457167.4	-	3	525	c.289C>T	c.(289-291)Cgg>Tgg	p.R97W	DNAJC7_ENST00000316603.7_Missense_Mutation_p.R41W|DNAJC7_ENST00000426588.3_Missense_Mutation_p.R41W	NM_003315.3	NP_003306.3	Q99615	DNJC7_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 7	97					chaperone cofactor-dependent protein refolding (GO:0070389)|protein folding (GO:0006457)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	heat shock protein binding (GO:0031072)			endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)	9		all_cancers(22;0.00273)|Breast(137;0.00104)|all_epithelial(22;0.0305)				ATACATACCCGGACAAAACTG	0.483																																					Colon(63;618 1117 8600 10857 19751)	ENST00000457167.4																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)	9						c.(289-291)Cgg>Tgg		DnaJ (Hsp40) homolog, subfamily C, member 7							108	102	104					17																	40149135		1958	4122	6080	SO:0001583	missense	7266				chaperone cofactor-dependent protein refolding	cytoplasm|cytoskeleton|nucleus	heat shock protein binding|unfolded protein binding	g.chr17:40149135G>A	U46571	CCDS45677.1, CCDS45678.1	17q11.2	2013-01-10				ENSG00000168259		"Heat shock proteins / DNAJ (HSP40)", "Tetratricopeptide (TTC) repeat domain containing"	12392	protein-coding gene	gene with protein product		601964		TTC2		8836031, 11147971	Standard	NR_029431		Approved	TPR2	uc002hyo.3	Q99615		ENST00000457167.4:c.289C>T	17.37:g.40149135G>A	ENSP00000406463:p.Arg97Trp					DNAJC7_ENST00000316603.7_Missense_Mutation_p.R41W|DNAJC7_ENST00000426588.3_Missense_Mutation_p.R41W	p.R97W	NM_003315.3	NP_003306.3	Q99615	DNJC7_HUMAN			3	525	-		all_cancers(22;0.00273)|Breast(137;0.00104)|all_epithelial(22;0.0305)	97					Q7Z784	Missense_Mutation	SNP	ENST00000457167.4	37	c.289C>T	CCDS45677.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.105157	0.77096	.	.	ENSG00000168259	ENST00000457167;ENST00000426588;ENST00000316603	T;T;T	0.76186	1.11;-1.0;-1.0	5.71	5.71	0.89125	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.051298	0.85682	D	0.000000	T	0.75693	0.3884	N	0.24115	0.695	0.49582	D	0.999805	P;D;D	0.65815	0.648;0.995;0.96	B;P;B	0.61003	0.258;0.882;0.368	T	0.78142	-0.2319	10	0.87932	D	0	-3.552	14.5867	0.68331	0.0:0.0:0.7423:0.2577	.	86;41;97	Q59EH7;Q7Z784;Q99615	.;.;DNJC7_HUMAN	W	97;41;41	ENSP00000406463:R97W;ENSP00000394327:R41W;ENSP00000313311:R41W	ENSP00000313311:R41W	R	-	1	2	DNAJC7	37402661	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.171000	0.50824	2.861000	0.98227	0.650000	0.86243	CGG		0.483	DNAJC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453366.2			3	35	0	0	0	1	0	3	35					A	40149135	G	A	40149135	3	1	4	1	0	0	0	0	1	0	0	0	4654	1115	39	2	1243	2	DNAJC7	17	40149135	Missense_Mutation	SNP	G	TCGA-2A-A8VV-01A-11D-A377-08		40149135	41046075	28	147											
GNA15	2769	broad.mit.edu	37	chr19	3150224	3150224	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagtggctgtggagggatgcCggcatccgggcctactatga	7	8	16	10	2	0	1	0	1	0	0	1	3	1	3	3	5	2	2	3	5	2	2	rs143346089	byFrequency	TCGA-2A-A8VV-01A-11D-A377-08	TCGA-2A-A8VV-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8ff080c-59c0-40d6-b8b1-4480719d7d17	1a90833f-1b9b-4585-8e45-807709fcf434	g.chr19:3150224C>T	ENST00000262958.3	+	3	684	c.426C>T	c.(424-426)gcC>gcT	p.A142A	AC005264.2_ENST00000587587.1_RNA	NM_002068.2	NP_002059.2	P30679	GNA15_HUMAN	guanine nucleotide binding protein (G protein), alpha 15 (Gq class)	142					activation of phospholipase C activity (GO:0007202)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|blood coagulation (GO:0007596)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|phospholipase C-activating G-protein coupled acetylcholine receptor signaling pathway (GO:0007207)|platelet activation (GO:0030168)|positive regulation of cytosolic calcium ion concentration (GO:0007204)	heterotrimeric G-protein complex (GO:0005834)|plasma membrane (GO:0005886)	G-protein beta/gamma-subunit complex binding (GO:0031683)|G-protein coupled receptor binding (GO:0001664)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)			large_intestine(5)|lung(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;7.04e-05)|OV - Ovarian serous cystadenocarcinoma(105;5.08e-113)|Epithelial(107;6.19e-111)|all cancers(105;6.19e-103)|BRCA - Breast invasive adenocarcinoma(158;0.00145)|STAD - Stomach adenocarcinoma(1328;0.184)		GGAGGGATGCCGGCATCCGGG	0.642																																						ENST00000262958.3																			0				large_intestine(5)|lung(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						c.(424-426)gcC>gcT		guanine nucleotide binding protein (G protein), alpha 15 (Gq class)							69	72	71					19																	3150224		2203	4299	6502	SO:0001819	synonymous_variant	2769				activation of phospholipase C activity by dopamine receptor signaling pathway|activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|elevation of cytosolic calcium ion concentration|G-protein signaling, coupled to cAMP nucleotide second messenger|platelet activation|protein ADP-ribosylation	heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity	g.chr19:3150224C>T		CCDS12104.1	19p13.3	2008-07-16				ENSG00000060558			4383	protein-coding gene	gene with protein product		139314				1302014	Standard	NM_002068		Approved	GNA16	uc002lxf.2	P30679		ENST00000262958.3:c.426C>T	19.37:g.3150224C>T						AC005264.2_ENST00000587587.1_RNA	p.A142A	NM_002068.2	NP_002059.2	P30679	GNA15_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;7.04e-05)|OV - Ovarian serous cystadenocarcinoma(105;5.08e-113)|Epithelial(107;6.19e-111)|all cancers(105;6.19e-103)|BRCA - Breast invasive adenocarcinoma(158;0.00145)|STAD - Stomach adenocarcinoma(1328;0.184)	3	684	+		Hepatocellular(1079;0.137)	142					E9KL40|E9KL47|O75247|Q53XK2	Silent	SNP	ENST00000262958.3	37	c.426C>T	CCDS12104.1																																																																																				0.642	GNA15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452320.2	NM_002068		10	147	0	0	0	1	0	10	147					T	3150224	C	T	3150224	2	4	4	1	0	0	0	0	0	0	0	1	6503	639	23	2		2	GNA15	19	3150224	Silent	SNP	C	TCGA-2A-A8VV-01A-11D-A377-08		3150224	55978759	29	148											
ZNF99	7652	broad.mit.edu	37	chr19	22940380	22940380	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtatgaattatcttatgtttTctaagggctgagaaatgctt	11	17	9	4	0	2	2	0	2	2	1	2	3	2	2	0	1	1	4	0	1	6	7			TCGA-2A-A8VV-01A-11D-A377-08	TCGA-2A-A8VV-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8ff080c-59c0-40d6-b8b1-4480719d7d17	1a90833f-1b9b-4585-8e45-807709fcf434	g.chr19:22940380T>C	ENST00000596209.1	-	4	2421	c.2331A>G	c.(2329-2331)agA>agG	p.R777R	ZNF99_ENST00000397104.3_Silent_p.R686R|CTC-451A6.4_ENST00000442497.2_lincRNA	NM_001080409.2	NP_001073878.2	A8MXY4	ZNF99_HUMAN	zinc finger protein 99	777					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				TCTTATGTTTTCTAAGGGCTG	0.353																																						ENST00000397104.3																			0				NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124						c.(2056-2058)agA>agG		zinc finger protein 99							32	33	33					19																	22940380		1938	4133	6071	SO:0001819	synonymous_variant	7652							g.chr19:22940380T>C	BC021822	CCDS59369.1	19p12	2013-01-08	2006-01-17		ENSG00000213973	ENSG00000213973		"Zinc fingers, C2H2-type", "-"	13175	protein-coding gene	gene with protein product		603981	"zinc finger protein 99 (F8281)", "chromosome 19 open reading frame 9"	C19orf9			Standard	NM_001080409		Approved	MGC24986	uc021urt.1	A8MXY4		ENST00000596209.1:c.2331A>G	19.37:g.22940380T>C						ZNF99_ENST00000596209.1_Silent_p.R777R	p.R686R							5	2057	-		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)						M0R335	Silent	SNP	ENST00000596209.1	37	c.2058A>G	CCDS59369.1																																																																																				0.353	ZNF99-001	NOVEL	not_best_in_genome_evidence|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000464591.1	XM_065124		3	23	0	0	0	1	0	3	23					C	22940380	T	C	22940380	2	2	4	1	0	0	0	0	0	0	0	1	18201	1780	62	4		4	ZNF99	19	22940380	Silent	SNP	T	TCGA-2A-A8VV-01A-11D-A377-08	19790156	22940380	36188603	30	149											
ZNF568	374900	broad.mit.edu	37	chr19	37440962	37440962	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	accacagaattcatactgggGagaaaccttatgcatgtaag	15	9	9	8	0	1	2	1	0	0	2	1	3	1	2	2	2	3	2	2	2	5	4			TCGA-2A-A8VV-01A-11D-A377-08	TCGA-2A-A8VV-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8ff080c-59c0-40d6-b8b1-4480719d7d17	1a90833f-1b9b-4585-8e45-807709fcf434	g.chr19:37440962G>C	ENST00000333987.7	+	7	1413	c.907G>C	c.(907-909)Gag>Cag	p.E303Q	ZNF568_ENST00000455427.2_Intron|ZNF568_ENST00000427117.1_Intron|ZNF568_ENST00000415168.1_Missense_Mutation_p.E239Q	NM_001204835.1|NM_198539.3	NP_001191764.1|NP_940941.2	Q3ZCX4	ZN568_HUMAN	zinc finger protein 568	303					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(9)|ovary(1)	29	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TCATACTGGGGAGAAACCTTA	0.378																																						ENST00000415168.1																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(9)|ovary(1)	29						c.(715-717)Gag>Cag		zinc finger protein 568							36	40	39					19																	37440962		2169	4283	6452	SO:0001583	missense	374900				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:37440962G>C	BX640681	CCDS42558.1, CCDS56092.1, CCDS56093.1, CCDS74351.1	19q13.12	2013-09-20			ENSG00000198453	ENSG00000198453		"Zinc fingers, C2H2-type", "-"	25392	protein-coding gene	gene with protein product							Standard	NM_198539		Approved	DKFZp686B0797	uc002ofc.3	Q3ZCX4	OTTHUMG00000048160	ENST00000333987.7:c.907G>C	19.37:g.37440962G>C	ENSP00000334685:p.Glu303Gln					ZNF568_ENST00000455427.2_Intron|ZNF568_ENST00000427117.1_Intron|ZNF568_ENST00000333987.7_Missense_Mutation_p.E303Q	p.E239Q	NM_001204837.1	NP_001191766.1	Q3ZCX4	ZN568_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		5	1091	+	Esophageal squamous(110;0.183)		303					B4DS92|E7ER33|Q6N060|Q8NA64	Missense_Mutation	SNP	ENST00000333987.7	37	c.715G>C	CCDS42558.1	.	.	.	.	.	.	.	.	.	.	G	17.29	3.352791	0.61293	.	.	ENSG00000198453	ENST00000333987;ENST00000415168	T;T	0.25912	1.77;1.77	3.95	2.87	0.33458	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.37437	N	0.002095	T	0.35158	0.0922	L	0.31207	0.915	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.10337	-1.0634	10	0.72032	D	0.01	.	10.0237	0.42059	0.1042:0.0:0.8958:0.0	.	303	Q3ZCX4	ZN568_HUMAN	Q	303;239	ENSP00000334685:E303Q;ENSP00000394514:E239Q	ENSP00000334685:E303Q	E	+	1	0	ZNF568	42132802	1.000000	0.71417	0.079000	0.20413	0.994000	0.84299	3.549000	0.53681	0.956000	0.37904	0.655000	0.94253	GAG		0.378	ZNF568-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109572.2	NM_198539		4	40	0	0	0	1	0	4	40					C	37440962	G	C	37440962	3	2	4	1	0	0	0	0	1	0	0	0	17996	1175	41	5	925	5	ZNF568	19	37440962	Missense_Mutation	SNP	G	TCGA-2A-A8VV-01A-11D-A377-08	14500582	37440962	21688021	31	150											
FCGBP	8857	broad.mit.edu	37	chr19	40368750	40368750	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggggagcgtcacgtctacccGccagttccagtcatagctga	8	8	12	13	3	3	1	2	1	1	0	4	2	4	2	3	2	3	2	3	2	2	3	rs529826298		TCGA-2A-A8VV-01A-11D-A377-08	TCGA-2A-A8VV-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8ff080c-59c0-40d6-b8b1-4480719d7d17	1a90833f-1b9b-4585-8e45-807709fcf434	g.chr19:40368750G>A	ENST00000221347.6	-	28	12605	c.12598C>T	c.(12598-12600)Cgg>Tgg	p.R4200W		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	4200	VWFD 10. {ECO:0000255|PROSITE- ProRule:PRU00580}.					extracellular vesicular exosome (GO:0070062)				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			ACGTCTACCCGCCAGTTCCAG	0.602													G|||	1	0.000199681	8e-04	0	5008	,	,		36603	0		0	False		,,,				2504	0					ENST00000221347.6																			0				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165						c.(12598-12600)Cgg>Tgg		Fc fragment of IgG binding protein							180	193	188					19																	40368750		2203	4300	6503	SO:0001583	missense	8857					extracellular region	protein binding	g.chr19:40368750G>A	D84239		19q13.2	2013-09-20			ENSG00000090920	ENSG00000275395			13572	protein-coding gene	gene with protein product	"IgG Fc binding protein", "Human Fc gamma BP"					9182547	Standard	NM_003890		Approved	FC(GAMMA)BP	uc002omp.4	Q9Y6R7	OTTHUMG00000182580	ENST00000221347.6:c.12598C>T	19.37:g.40368750G>A	ENSP00000221347:p.Arg4200Trp						p.R4200W	NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)		28	12605	-	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		4200			VWFD 10.		O95784	Missense_Mutation	SNP	ENST00000221347.6	37	c.12598C>T	CCDS12546.1	.	.	.	.	.	.	.	.	.	.	G	9.928	1.214062	0.22289	.	.	ENSG00000090920	ENST00000221347	T	0.61274	0.12	3.37	1.05	0.20165	von Willebrand factor, type D domain (3);	.	.	.	.	T	0.67487	0.2898	M	0.87180	2.865	0.09310	N	1	D	0.69078	0.997	P	0.54815	0.761	T	0.55879	-0.8071	9	0.39692	T	0.17	.	5.1058	0.14783	0.1084:0.0:0.328:0.5636	.	4200	Q9Y6R7	FCGBP_HUMAN	W	4200	ENSP00000221347:R4200W	ENSP00000221347:R4200W	R	-	1	2	FCGBP	45060590	0.000000	0.05858	0.390000	0.26220	0.110000	0.19582	-0.472000	0.06623	0.363000	0.24346	0.305000	0.20034	CGG		0.602	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462507.1	NM_003890		8	497	0	0	0	1	0	8	497					A	40368750	G	A	40368750	3	1	4	1	0	0	0	0	1	0	0	0	5778	1086	38	1	3655	1	FCGBP	19	40368750	Missense_Mutation	SNP	G	TCGA-2A-A8VV-01A-11D-A377-08	2927788	40368750	18760233	32	151											
CNR2	1269	broad.mit.edu	37	chr1	24201287	24201287	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggccttcttgacctggtcaCtgagcgtagtggccaggctg	6	10	14	11	1	2	2	1	2	1	0	2	2	2	2	3	4	1	2	3	4	1	3			TCGA-2A-A8VX-01A-11D-A377-08	TCGA-2A-A8VX-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	957baedd-a3e5-4cc3-84bc-d96a98047c96	53b1cab7-43d1-4643-ac22-c93696c913ee	g.chr1:24201287C>G	ENST00000374472.4	-	2	982	c.821G>C	c.(820-822)aGt>aCt	p.S274T	CNR2_ENST00000536471.1_Missense_Mutation_p.S274T	NM_001841.2	NP_001832.1	P34972	CNR2_HUMAN	cannabinoid receptor 2 (macrophage)	274					G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|immune response (GO:0006955)|inflammatory response (GO:0006954)|negative regulation of action potential (GO:0045759)|negative regulation of inflammatory response (GO:0050728)|negative regulation of mast cell activation (GO:0033004)|negative regulation of nitric-oxide synthase activity (GO:0051001)|negative regulation of synaptic transmission, GABAergic (GO:0032229)|response to amphetamine (GO:0001975)|response to lipopolysaccharide (GO:0032496)|sensory perception of pain (GO:0019233)	dendrite (GO:0030425)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	cannabinoid receptor activity (GO:0004949)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(9)|pancreas(1)|skin(2)|stomach(6)|upper_aerodigestive_tract(2)	26		Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Ovarian(437;0.00348)|Breast(348;0.00957)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;1.32e-24)|Colorectal(126;6.09e-08)|COAD - Colon adenocarcinoma(152;3.33e-06)|GBM - Glioblastoma multiforme(114;2.9e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|KIRC - Kidney renal clear cell carcinoma(1967;0.00359)|STAD - Stomach adenocarcinoma(196;0.0131)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.146)	Dronabinol(DB00470)|Nabilone(DB00486)	GACCTGGTCACTGAGCGTAGT	0.572																																						ENST00000536471.1																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(9)|pancreas(1)|skin(2)|stomach(6)|upper_aerodigestive_tract(2)	26						c.(820-822)aGt>aCt		cannabinoid receptor 2 (macrophage)	Nabilone(DB00486)						83	71	75					1																	24201287		2203	4300	6503	SO:0001583	missense	1269				behavior|G-protein signaling, coupled to cyclic nucleotide second messenger|immune response|inflammatory response	dendrite|integral to plasma membrane|perikaryon	cannabinoid receptor activity	g.chr1:24201287C>G	X74328	CCDS245.1	1p	2012-08-08			ENSG00000188822	ENSG00000188822		"GPCR / Class A : Cannabinoid receptors"	2160	protein-coding gene	gene with protein product		605051					Standard	NM_001841		Approved	CB2	uc001bif.3	P34972	OTTHUMG00000013892	ENST00000374472.4:c.821G>C	1.37:g.24201287C>G	ENSP00000363596:p.Ser274Thr					CNR2_ENST00000374472.4_Missense_Mutation_p.S274T	p.S274T			P34972	CNR2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;1.32e-24)|Colorectal(126;6.09e-08)|COAD - Colon adenocarcinoma(152;3.33e-06)|GBM - Glioblastoma multiforme(114;2.9e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|KIRC - Kidney renal clear cell carcinoma(1967;0.00359)|STAD - Stomach adenocarcinoma(196;0.0131)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.146)	3	1079	-		Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Ovarian(437;0.00348)|Breast(348;0.00957)|Myeloproliferative disorder(586;0.0255)	274					C6ES44|Q4VBK8|Q5JRH7|Q6B0G7|Q6NSY0	Missense_Mutation	SNP	ENST00000374472.4	37	c.821G>C	CCDS245.1	.	.	.	.	.	.	.	.	.	.	C	5.689	0.311773	0.10789	.	.	ENSG00000188822	ENST00000374472;ENST00000536471	T;T	0.72725	-0.68;-0.68	5.5	2.26	0.28386	GPCR, rhodopsin-like superfamily (1);	0.353029	0.34879	N	0.003608	T	0.49236	0.1545	N	0.17278	0.47	0.23320	N	0.997918	B	0.13145	0.007	B	0.15052	0.012	T	0.32798	-0.9893	10	0.33141	T	0.24	.	7.1635	0.25677	0.0:0.5084:0.0:0.4916	.	274	P34972	CNR2_HUMAN	T	274	ENSP00000363596:S274T;ENSP00000442830:S274T	ENSP00000363596:S274T	S	-	2	0	CNR2	24073874	0.015000	0.18098	0.033000	0.17914	0.647000	0.38526	0.240000	0.18042	0.694000	0.31654	0.557000	0.71058	AGT		0.572	CNR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038949.1	NM_001841		15	18	0	0	0	1	0	15	18					G	24201287	C	G	24201287	3	3	5	1	0	0	0	0	1	0	0	0	3632	565	20	5	265	5	CNR2	1	24201287	Missense_Mutation	SNP	C	TCGA-2A-A8VX-01A-11D-A377-08		24201287	225049334	1	152											
ARID1A	8289	broad.mit.edu	37	chr1	27087548	27087548	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gctctcccgccagtgttgctCagtctcgctcaggaccactc	5	10	9	17	2	4	0	2	0	2	0	7	1	4	1	3	1	1	4	3	1	0	1			TCGA-2A-A8VX-01A-11D-A377-08	TCGA-2A-A8VX-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	957baedd-a3e5-4cc3-84bc-d96a98047c96	53b1cab7-43d1-4643-ac22-c93696c913ee	g.chr1:27087548C>T	ENST00000324856.7	+	5	2493	c.2122C>T	c.(2122-2124)Cag>Tag	p.Q708*	ARID1A_ENST00000374152.2_Nonsense_Mutation_p.Q325*|RN7SL501P_ENST00000578818.1_RNA|ARID1A_ENST00000457599.2_Nonsense_Mutation_p.Q708*	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	708					androgen receptor signaling pathway (GO:0030521)|ATP-dependent chromatin remodeling (GO:0043044)|cardiac chamber development (GO:0003205)|chromatin remodeling (GO:0006338)|chromatin-mediated maintenance of transcription (GO:0048096)|forebrain development (GO:0030900)|glucocorticoid receptor signaling pathway (GO:0042921)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|nucleosome disassembly (GO:0006337)|nucleosome mobilization (GO:0042766)|optic cup formation involved in camera-type eye development (GO:0003408)|placenta blood vessel development (GO:0060674)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|transcription coactivator activity (GO:0003713)	p.Q708*(1)	ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		CAGTGTTGCTCAGTCTCGCTC	0.592			"Mis, N, F, S, D"		"clear cell ovarian carcinoma, RCC"																																	ENST00000324856.7				Rec	yes		1	1p35.3	8289	"Mis, N, F, S, D"	AT rich interactive domain 1A (SWI-like)			E			"clear cell ovarian carcinoma, RCC"	ARID1A/MAST2_ENST00000361297(2)	1	Substitution - Nonsense(1)	p.Q708*(1)	ovary(1)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411						c.(2122-2124)Cag>Tag		AT rich interactive domain 1A (SWI-like)							64	60	61					1																	27087548		2203	4300	6503	SO:0001587	stop_gained	8289				androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding	g.chr1:27087548C>T	AB001895	CCDS285.1, CCDS44091.1	1p36.1-p35	2014-09-17	2006-11-08	2004-01-30	ENSG00000117713	ENSG00000117713		"-"	11110	protein-coding gene	gene with protein product		603024	"SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily f, member 1", "AT rich interactive domain 1A (SWI- like)"	C1orf4, SMARCF1		9630625, 9434167	Standard	NM_139135		Approved	B120, P270, C10rf4, BAF250, BAF250a	uc001bmv.1	O14497	OTTHUMG00000004004	ENST00000324856.7:c.2122C>T	1.37:g.27087548C>T	ENSP00000320485:p.Gln708*					ARID1A_ENST00000457599.2_Nonsense_Mutation_p.Q708*|ARID1A_ENST00000374152.2_Nonsense_Mutation_p.Q325*	p.Q708*	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)	5	2493	+		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	708					D3DPL1|Q53FK9|Q5T0W1|Q5T0W2|Q5T0W3|Q8NFD6|Q96T89|Q9BY33|Q9HBJ5|Q9UPZ1	Nonsense_Mutation	SNP	ENST00000324856.7	37	c.2122C>T	CCDS285.1	.	.	.	.	.	.	.	.	.	.	C	38	6.956006	0.97960	.	.	ENSG00000117713	ENST00000324856;ENST00000457599;ENST00000374152	.	.	.	5.77	5.77	0.91146	.	0.250823	0.39210	N	0.001433	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.35671	T	0.21	-6.6633	19.9915	0.97366	0.0:1.0:0.0:0.0	.	.	.	.	X	708;708;325	.	ENSP00000320485:Q708X	Q	+	1	0	ARID1A	26960135	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.335000	0.59298	2.723000	0.93209	0.655000	0.94253	CAG		0.592	ARID1A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000011437.2	NM_139135		4	37	0	0	0	1	0	4	37					T	27087548	C	T	27087548	4	4	5	1	0	0	0	0	0	1	0	0	913	827	29	3	2140	3	ARID1A	1	27087548	Nonsense_Mutation	SNP	C	TCGA-2A-A8VX-01A-11D-A377-08	2886261	27087548	222163073	2	153											
SLC16A4	9122	broad.mit.edu	37	chr1	110924399	110924399	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tctctccaagtatgtcacaaAtaatagcaaccaggggacct	14	9	7	11	0	2	0	1	0	1	0	4	1	3	1	3	2	2	2	3	2	6	3			TCGA-2A-A8VX-01A-11D-A377-08	TCGA-2A-A8VX-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	957baedd-a3e5-4cc3-84bc-d96a98047c96	53b1cab7-43d1-4643-ac22-c93696c913ee	g.chr1:110924399A>C	ENST00000369779.4	-	4	488	c.239T>G	c.(238-240)aTt>aGt	p.I80S	SLC16A4_ENST00000497687.1_Intron|SLC16A4_ENST00000437429.2_Intron|SLC16A4_ENST00000541986.1_Missense_Mutation_p.I18S|LAMTOR5-AS1_ENST00000590413.1_RNA|SLC16A4_ENST00000369781.4_Missense_Mutation_p.I80S|SLC16A4_ENST00000472422.2_Intron	NM_001201547.1|NM_004696.2	NP_001188476.1|NP_004687.1	O15374	MOT5_HUMAN	solute carrier family 16, member 4	80					monocarboxylic acid transport (GO:0015718)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	monocarboxylic acid transmembrane transporter activity (GO:0008028)|symporter activity (GO:0015293)			breast(1)|endometrium(1)|kidney(4)|large_intestine(2)|lung(2)|ovary(3)|prostate(1)|stomach(2)	16		all_cancers(81;0.000476)|all_epithelial(167;0.000401)|all_lung(203;0.00277)|Lung NSC(277;0.0043)		Lung(183;0.0251)|all cancers(265;0.0766)|Epithelial(280;0.0807)|Colorectal(144;0.112)|LUSC - Lung squamous cell carcinoma(189;0.14)	Pyruvic acid(DB00119)	TATGTCACAAATAATAGCAAC	0.408																																						ENST00000369779.4																			0				breast(1)|endometrium(1)|kidney(4)|large_intestine(2)|lung(2)|ovary(3)|prostate(1)|stomach(2)	16						c.(238-240)aTt>aGt		solute carrier family 16, member 4	Pyruvic acid(DB00119)						100	94	96					1																	110924399		2203	4300	6503	SO:0001583	missense	9122					integral to plasma membrane|membrane fraction	monocarboxylic acid transmembrane transporter activity|symporter activity	g.chr1:110924399A>C	U59185	CCDS823.1, CCDS55621.1, CCDS55622.1, CCDS55623.1, CCDS55624.1	1p13.3	2013-07-18	2013-07-18		ENSG00000168679	ENSG00000168679		"Solute carriers"	10925	protein-coding gene	gene with protein product		603878	"solute carrier family 16 (monocarboxylic acid transporters), member 4", "solute carrier family 16, member 4 (monocarboxylic acid transporter 5)"			9425115	Standard	NM_004696		Approved	MCT4, MCT5	uc001dzo.2	O15374	OTTHUMG00000011285	ENST00000369779.4:c.239T>G	1.37:g.110924399A>C	ENSP00000358794:p.Ile80Ser					SLC16A4_ENST00000497687.1_Intron|SLC16A4_ENST00000369781.4_Missense_Mutation_p.I80S|SLC16A4_ENST00000437429.2_Intron|SLC16A4_ENST00000541986.1_Missense_Mutation_p.I18S|SLC16A4_ENST00000472422.2_Intron	p.I80S	NM_001201547.1|NM_004696.2	NP_001188476.1|NP_004687.1	O15374	MOT5_HUMAN		Lung(183;0.0251)|all cancers(265;0.0766)|Epithelial(280;0.0807)|Colorectal(144;0.112)|LUSC - Lung squamous cell carcinoma(189;0.14)	4	488	-		all_cancers(81;0.000476)|all_epithelial(167;0.000401)|all_lung(203;0.00277)|Lung NSC(277;0.0043)	80					A8K3V5|B2R9C9|B4DJ67|B4DPX7|E7EPY8|G3V175|Q5T612|Q8WU09	Missense_Mutation	SNP	ENST00000369779.4	37	c.239T>G	CCDS823.1	.	.	.	.	.	.	.	.	.	.	A	12.04	1.817396	0.32145	.	.	ENSG00000168679	ENST00000369779;ENST00000369781;ENST00000541986	T;T;T	0.59224	0.28;0.28;0.28	5.2	-1.74	0.08056	Major facilitator superfamily domain, general substrate transporter (1);	0.825765	0.11655	N	0.542462	T	0.50531	0.1621	M	0.71581	2.175	0.09310	N	1	P;P;B;B	0.37594	0.601;0.552;0.14;0.43	B;P;B;B	0.49192	0.259;0.602;0.351;0.186	T	0.59096	-0.7518	10	0.87932	D	0	.	11.6484	0.51273	0.4552:0.0:0.5448:0.0	.	18;80;80;80	B4DJ67;Q53FH9;Q8WU09;O15374	.;.;.;MOT5_HUMAN	S	80;80;18	ENSP00000358794:I80S;ENSP00000358796:I80S;ENSP00000446087:I18S	ENSP00000358794:I80S	I	-	2	0	SLC16A4	110725922	0.135000	0.22499	0.000000	0.03702	0.104000	0.19210	1.468000	0.35332	-0.242000	0.09667	-0.899000	0.02877	ATT		0.408	SLC16A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000031115.3	NM_004696		19	22	0	0	0	1	0	19	22					C	110924399	A	C	110924399	3	2	5	1	0	0	0	0	1	0	0	0	14410	101	4	5	1248	5	SLC16A4	1	110924399	Missense_Mutation	SNP	A	TCGA-2A-A8VX-01A-11D-A377-08	83836851	110924399	138326222	3	154											
FCRL3	115352	broad.mit.edu	37	chr1	157666001	157666001	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttccttctttgtgccaggAgaatgtgacagtccctgaac	8	13	9	11	0	2	3	0	2	2	1	4	4	4	3	3	1	2	0	3	1	2	3			TCGA-2A-A8VX-01A-11D-A377-08	TCGA-2A-A8VX-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	957baedd-a3e5-4cc3-84bc-d96a98047c96	53b1cab7-43d1-4643-ac22-c93696c913ee	g.chr1:157666001A>G	ENST00000368184.3	-	7	1252	c.961T>C	c.(961-963)Tcc>Ccc	p.S321P	RP11-367J7.3_ENST00000453692.1_RNA|FCRL3_ENST00000368186.5_Missense_Mutation_p.S321P|FCRL3_ENST00000473231.1_5'UTR	NM_052939.3	NP_443171.2	Q96P31	FCRL3_HUMAN	Fc receptor-like 3	321	Ig-like C2-type 4.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(1)|large_intestine(13)|lung(31)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)	69	all_hematologic(112;0.0378)					TTGTGCCAGGAGAATGTGACA	0.522																																						ENST00000368184.3																			0				autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(1)|large_intestine(13)|lung(31)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)	69						c.(961-963)Tcc>Ccc		Fc receptor-like 3							132	121	125					1																	157666001		2203	4300	6503	SO:0001583	missense	115352					integral to membrane|plasma membrane	receptor activity	g.chr1:157666001A>G	AF459027	CCDS1167.1	1q21-q22	2013-01-11			ENSG00000160856	ENSG00000160856		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	18506	protein-coding gene	gene with protein product		606510				11493702, 12014205	Standard	XR_241065		Approved	FCRH3, IRTA3, IFGP3, SPAP2a, SPAP2, SPAP2b, SPAP2c, SPAP2d, SPAP2e, CD307c	uc001frb.3	Q96P31	OTTHUMG00000019400	ENST00000368184.3:c.961T>C	1.37:g.157666001A>G	ENSP00000357167:p.Ser321Pro					FCRL3_ENST00000368186.5_Missense_Mutation_p.S321P|FCRL3_ENST00000473231.1_5'UTR|RP11-367J7.3_ENST00000453692.1_RNA	p.S321P	NM_052939.3	NP_443171.2	Q96P31	FCRL3_HUMAN			7	1252	-	all_hematologic(112;0.0378)		321			Ig-like C2-type 4.		A0N0M4|A8MTH7|D3DVD2|Q5VXZ8|Q8N6S2|Q96LA4|Q96P27|Q96P28|Q96P29|Q96P30	Missense_Mutation	SNP	ENST00000368184.3	37	c.961T>C	CCDS1167.1	.	.	.	.	.	.	.	.	.	.	A	19.25	3.790904	0.70452	.	.	ENSG00000160856	ENST00000368186;ENST00000368184;ENST00000292392	T;T	0.13307	2.6;2.6	5.35	5.35	0.76521	Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin (1);Immunoglobulin-like fold (1);	0.151408	0.31123	N	0.008208	T	0.31979	0.0814	M	0.91768	3.24	0.27762	N	0.943806	D;D;D	0.76494	0.999;0.997;0.998	D;D;D	0.75484	0.986;0.986;0.976	T	0.41787	-0.9489	10	0.54805	T	0.06	.	11.729	0.51726	1.0:0.0:0.0:0.0	.	321;226;321	Q96P31;D3DVD1;Q96P31-6	FCRL3_HUMAN;.;.	P	321	ENSP00000357169:S321P;ENSP00000357167:S321P	ENSP00000292392:S321P	S	-	1	0	FCRL3	155932625	1.000000	0.71417	1.000000	0.80357	0.752000	0.42762	1.859000	0.39418	2.025000	0.59659	0.533000	0.62120	TCC		0.522	FCRL3-006	NOVEL	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051419.2	NM_052939		33	60	0	0	0	1	0	33	60					G	157666001	A	G	157666001	3	3	5	1	0	0	0	0	1	0	0	0	5796	304	11	4	1279	4	FCRL3	1	157666001	Missense_Mutation	SNP	A	TCGA-2A-A8VX-01A-11D-A377-08	46741602	157666001	91584620	4	155											
SMG7	9887	broad.mit.edu	37	chr1	183486931	183486931	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aacctttctctgttcctagaGgcagctagtggcttctatac	8	14	8	11	0	2	1	0	0	2	1	4	1	3	1	2	2	3	4	2	2	5	7			TCGA-2A-A8VX-01A-11D-A377-08	TCGA-2A-A8VX-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	957baedd-a3e5-4cc3-84bc-d96a98047c96	53b1cab7-43d1-4643-ac22-c93696c913ee	g.chr1:183486931G>C	ENST00000347615.2	+	4	407	c.288G>C	c.(286-288)gaG>gaC	p.E96D	SMG7_ENST00000508461.1_Missense_Mutation_p.E54D|SMG7_ENST00000367537.3_Missense_Mutation_p.E125D|SMG7_ENST00000515829.2_Missense_Mutation_p.E96D|SMG7_ENST00000456731.2_Missense_Mutation_p.E54D|SMG7_ENST00000507469.1_Missense_Mutation_p.E96D	NM_173156.2	NP_775179.1	Q92540	SMG7_HUMAN	SMG7 nonsense mediated mRNA decay factor	96					gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of dephosphorylation (GO:0035303)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)	protein phosphatase 2A binding (GO:0051721)			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(16)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						TGTTCCTAGAGGCAGCTAGTG	0.423																																						ENST00000367537.3																			0				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(16)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						c.(373-375)gaG>gaC		SMG7 nonsense mediated mRNA decay factor							179	168	172					1																	183486931		2203	4300	6503	SO:0001583	missense	9887				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation	cytoplasm|intermediate filament cytoskeleton|nucleus	protein phosphatase 2A binding	g.chr1:183486931G>C	D87437	CCDS1355.1, CCDS41445.1, CCDS41445.2, CCDS53444.1, CCDS53445.1	1q25	2013-07-02	2013-07-02	2006-02-16	ENSG00000116698	ENSG00000116698			16792	protein-coding gene	gene with protein product	"EST1 telomerase component homolog C (S. cerevisiae)"	610964	"chromosome 1 open reading frame 16", "smg-7 homolog, nonsense mediated mRNA decay factor (C. elegans)"	C1orf16		14636577, 15721257	Standard	NM_173156		Approved	KIAA0250, EST1C, SGA56M, SMG-7	uc001gqf.3	Q92540	OTTHUMG00000035221	ENST00000347615.2:c.288G>C	1.37:g.183486931G>C	ENSP00000340766:p.Glu96Asp					SMG7_ENST00000456731.2_Missense_Mutation_p.E54D|SMG7_ENST00000515829.2_Missense_Mutation_p.E96D|SMG7_ENST00000508461.1_Missense_Mutation_p.E54D|SMG7_ENST00000507469.1_Missense_Mutation_p.E96D|SMG7_ENST00000347615.2_Missense_Mutation_p.E96D	p.E125D			Q92540	SMG7_HUMAN			5	570	+			96					B4DRB2|E9PCI0|E9PEH2|Q5T1Q0|Q6PIE0|Q7Z7H9|Q8IXC1|Q8IXC2	Missense_Mutation	SNP	ENST00000347615.2	37	c.375G>C	CCDS1355.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.988394	0.74589	.	.	ENSG00000116698	ENST00000456731;ENST00000367537;ENST00000508461;ENST00000419169;ENST00000347615;ENST00000507469;ENST00000515829	T;T;T;T;T;T;T	0.16743	2.32;2.32;2.32;2.32;2.32;2.32;2.32	5.43	4.52	0.55395	Telomerase activating protein Est1 (1);	0.116064	0.64402	D	0.000016	T	0.25901	0.0631	L	0.31664	0.95	0.58432	D	0.999992	P;D;D;D;D;P	0.58970	0.95;0.966;0.966;0.957;0.984;0.815	P;P;D;P;D;P	0.64506	0.826;0.885;0.926;0.817;0.923;0.838	T	0.01405	-1.1363	10	0.45353	T	0.12	-13.5588	10.9811	0.47494	0.1486:0.0:0.8514:0.0	.	54;125;54;96;96;96	E9PCI0;E9PD50;E9PCE5;Q92540-2;Q92540;E9PEH2	.;.;.;.;SMG7_HUMAN;.	D	54;125;54;54;96;96;96	ENSP00000407629:E54D;ENSP00000356507:E125D;ENSP00000426915:E54D;ENSP00000388390:E54D;ENSP00000340766:E96D;ENSP00000425133:E96D;ENSP00000421358:E96D	ENSP00000340766:E96D	E	+	3	2	SMG7	181753554	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.415000	0.59809	1.274000	0.44362	0.655000	0.94253	GAG		0.423	SMG7-002	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000085432.1	NM_014837		36	52	0	0	0	1	0	36	52					C	183486931	G	C	183486931	3	2	5	1	0	0	0	0	1	0	0	0	14798	991	35	5	302	5	SMG7	1	183486931	Missense_Mutation	SNP	G	TCGA-2A-A8VX-01A-11D-A377-08	25820930	183486931	65763690	5	156											
APOB	338	broad.mit.edu	37	chr2	21234067	21234067	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gaacggaagacattgctgaaAtgcagtgagtctgaattata	15	10	11	5	1	1	4	0	3	1	1	1	6	1	5	0	1	3	2	0	1	6	3			TCGA-2A-A8VX-01A-11D-A377-08	TCGA-2A-A8VX-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	957baedd-a3e5-4cc3-84bc-d96a98047c96	53b1cab7-43d1-4643-ac22-c93696c913ee	g.chr2:21234067A>G	ENST00000233242.1	-	26	5800	c.5673T>C	c.(5671-5673)caT>caC	p.H1891H		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	1891					artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CATTGCTGAAATGCAGTGAGT	0.488																																						ENST00000233242.1																			0				NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305						c.(5671-5673)caT>caC		apolipoprotein B	Atorvastatin(DB01076)						118	111	114					2																	21234067		2203	4300	6503	SO:0001819	synonymous_variant	338				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	g.chr2:21234067A>G	M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"Apolipoproteins"	603	protein-coding gene	gene with protein product		107730	"apolipoprotein B (including Ag(x) antigen)"				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.5673T>C	2.37:g.21234067A>G							p.H1891H	NM_000384.2	NP_000375.2	P04114	APOB_HUMAN			26	5800	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		1891					O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Silent	SNP	ENST00000233242.1	37	c.5673T>C	CCDS1703.1																																																																																				0.488	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1			5	90	0	0	0	1	0	5	90					G	21234067	A	G	21234067	2	3	5	1	0	0	0	0	0	0	0	1	785	98	4	4		4	APOB	2	21234067	Silent	SNP	A	TCGA-2A-A8VX-01A-11D-A377-08		21234067	221965306	6	157											
FAM128B	80097	broad.mit.edu	37	chr2	130948170	130948170	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgcccaaggggggcgggcctGggaagagccctacacggggc	7	3	19	12	2	0	1	0	0	0	1	0	2	0	2	3	7	3	0	3	7	3	1			TCGA-2A-A8VX-01A-11D-A377-08	TCGA-2A-A8VX-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	957baedd-a3e5-4cc3-84bc-d96a98047c96	53b1cab7-43d1-4643-ac22-c93696c913ee	g.chr2:130948170G>C	ENST00000281871.6	+	3	803	c.448G>C	c.(448-450)Ggg>Cgg	p.G150R	MZT2B_ENST00000409255.1_Missense_Mutation_p.G210R	NM_025029.3	NP_079305.2	Q6NZ67	MZT2B_HUMAN	mitotic spindle organizing protein 2B	150						centrosome (GO:0005813)|gamma-tubulin ring complex (GO:0008274)|spindle (GO:0005819)				lung(1)	1						GGGCGGGCCTGGGAAGAGCCC	0.612																																						ENST00000281871.6																			0				lung(1)	1						c.(448-450)Ggg>Cgg		mitotic spindle organizing protein 2B							37	43	41					2																	130948170		2188	4289	6477	SO:0001583	missense	80097					centrosome|gamma-tubulin ring complex|spindle	protein binding	g.chr2:130948170G>C	BC066296	CCDS2157.1	2q21.1	2013-10-11	2010-07-22	2010-07-22	ENSG00000152082	ENSG00000152082			25886	protein-coding gene	gene with protein product	"mitotic-spindle organizing protein associated with a ring of gamma-tubulin 2B"	613450	"family with sequence similarity 128, member B"	FAM128B		20360068	Standard	NM_025029		Approved	FLJ14346, MOZART2B	uc002tqu.3	Q6NZ67	OTTHUMG00000131625	ENST00000281871.6:c.448G>C	2.37:g.130948170G>C	ENSP00000281871:p.Gly150Arg					MZT2B_ENST00000409255.1_Missense_Mutation_p.G210R	p.G150R	NM_025029.3	NP_079305.2	Q6NZ67	MZT2B_HUMAN			3	803	+			150					Q96CG4	Missense_Mutation	SNP	ENST00000281871.6	37	c.448G>C	CCDS2157.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	15.21|15.21	2.767279|2.767279	0.49574|0.49574	.|.	.|.	ENSG00000152082|ENSG00000152082	ENST00000457492;ENST00000281871;ENST00000409255|ENST00000455239	T;T;T|.	0.69685|.	0.01;-0.1;-0.42|.	3.59|3.59	3.59|3.59	0.41128|0.41128	.|.	0.278138|.	0.33199|.	N|.	0.005165|.	T|T	0.58736|0.58736	0.2143|0.2143	M|M	0.61703|0.61703	1.905|1.905	0.44061|0.44061	D|D	0.996806|0.996806	D|.	0.89917|.	1.0|.	D|.	0.91635|.	0.999|.	T|T	0.53725|0.53725	-0.8398|-0.8398	10|6	0.87932|0.07813	D|T	0|0.8	-23.2371|-23.2371	13.0628|13.0628	0.59015|0.59015	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	150|.	Q6NZ67|.	MZT2B_HUMAN|.	R|S	113;150;210|90	ENSP00000387805:G113R;ENSP00000281871:G150R;ENSP00000386419:G210R|.	ENSP00000281871:G150R|ENSP00000404629:W90S	G|W	+|+	1|2	0|0	MZT2B|MZT2B	130664640|130664640	1.000000|1.000000	0.71417|0.71417	0.730000|0.730000	0.30809|0.30809	0.363000|0.363000	0.29612|0.29612	5.841000|5.841000	0.69409|0.69409	2.006000|2.006000	0.58801|0.58801	0.455000|0.455000	0.32223|0.32223	GGG|TGG		0.612	MZT2B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254518.1	NM_025029		34	9	0	0	0	1	0	34	9					C	130948170	G	C	130948170	3	2	5	1	0	0	0	0	1	0	0	0	5435	1348	47	5	458	5	FAM128B	2	130948170	Missense_Mutation	SNP	G	TCGA-2A-A8VX-01A-11D-A377-08	109714103	130948170	112251203	7	158											
SF3B1	23451	broad.mit.edu	37	chr2	198266834	198266834	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcactgatggtccgaacttTctgctgctcatccacaagac	10	10	8	13	1	2	2	1	1	1	1	4	3	4	2	2	1	4	3	2	1	2	1	rs559063155		TCGA-2A-A8VX-01A-11D-A377-08	TCGA-2A-A8VX-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	957baedd-a3e5-4cc3-84bc-d96a98047c96	53b1cab7-43d1-4643-ac22-c93696c913ee	g.chr2:198266834T>C	ENST00000335508.6	-	15	2189	c.2098A>G	c.(2098-2100)Aaa>Gaa	p.K700E	SNORA4_ENST00000365564.1_RNA|SF3B1_ENST00000462613.1_5'UTR	NM_012433.2	NP_036565.2	O75533	SF3B1_HUMAN	splicing factor 3b, subunit 1, 155kDa	700					anterior/posterior pattern specification (GO:0009952)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U12-type spliceosomal complex (GO:0005689)	chromatin binding (GO:0003682)|poly(A) RNA binding (GO:0044822)	p.K700E(179)|p.Q699_K700del(2)		NS(35)|breast(10)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(524)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|pancreas(4)|prostate(6)|salivary_gland(1)|skin(4)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	633			OV - Ovarian serous cystadenocarcinoma(117;0.246)			GTCCGAACTTTCTGCTGCTCA	0.408			Mis		myelodysplastic syndrome								T|||	1	0.000199681	0	0	5008	,	,		17946	0		0	False		,,,				2504	0.001					ENST00000335508.5				Dom	yes		2	2q33.1	23451	Mis	"splicing factor 3b, subunit 1, 155kDa"			L			myelodysplastic syndrome		181	Substitution - Missense(179)|Deletion - In frame(2)	p.K700E(179)|p.Q699_K700del(2)	haematopoietic_and_lymphoid_tissue(153)|NS(20)|breast(5)|pancreas(2)|central_nervous_system(1)	NS(35)|breast(10)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(524)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|pancreas(4)|prostate(6)|salivary_gland(1)|skin(4)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	633						c.(2098-2100)Aaa>Gaa		splicing factor 3b, subunit 1, 155kDa																																				SO:0001583	missense	23451				nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|nuclear speck|U12-type spliceosomal complex	protein binding	g.chr2:198266834T>C	AF054284	CCDS33356.1, CCDS46479.1	2q33.1	2014-09-17	2002-08-29		ENSG00000115524	ENSG00000115524			10768	protein-coding gene	gene with protein product		605590	"splicing factor 3b, subunit 1, 155kD"			9585501	Standard	XM_005246428		Approved	SAP155, SF3b155, PRPF10, Prp10, Hsh155	uc002uue.3	O75533	OTTHUMG00000154447	ENST00000335508.6:c.2098A>G	2.37:g.198266834T>C	ENSP00000335321:p.Lys700Glu					SF3B1_ENST00000462613.1_5'UTR	p.K700E	NM_012433.2	NP_036565.2	O75533	SF3B1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.246)		15	2189	-			700					E9PCH3	Missense_Mutation	SNP	ENST00000335508.6	37	c.2098A>G	CCDS33356.1	.	.	.	.	.	.	.	.	.	.	T	33	5.243295	0.95272	.	.	ENSG00000115524	ENST00000335508	T	0.63580	-0.05	6.02	6.02	0.97574	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.85609	0.5736	H	0.95504	3.68	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.89820	0.3988	10	0.87932	D	0	.	16.542	0.84395	0.0:0.0:0.0:1.0	.	700	O75533	SF3B1_HUMAN	E	700	ENSP00000335321:K700E	ENSP00000335321:K700E	K	-	1	0	SF3B1	197975079	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.555000	0.82223	2.304000	0.77564	0.528000	0.53228	AAA		0.408	SF3B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335245.2			23	24	0	0	0	1	0	23	24					C	198266834	T	C	198266834	3	2	5	1	0	0	0	0	1	0	0	0	14149	1792	62	4	1860	4	SF3B1	2	198266834	Missense_Mutation	SNP	T	TCGA-2A-A8VX-01A-11D-A377-08	67318664	198266834	44932539	8	159											
SPEG	10290	broad.mit.edu	37	chr2	220309783	220309783	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gggcatctcgagctaatctgGtgggcgcaagctgggggtca	7	8	17	9	2	3	0	1	0	2	0	4	1	3	0	0	5	2	4	0	5	2	1			TCGA-2A-A8VX-01A-11D-A377-08	TCGA-2A-A8VX-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	957baedd-a3e5-4cc3-84bc-d96a98047c96	53b1cab7-43d1-4643-ac22-c93696c913ee	g.chr2:220309783G>A	ENST00000312358.7	+	3	847	c.715G>A	c.(715-717)Gtg>Atg	p.V239M	SPEG_ENST00000396698.1_Missense_Mutation_p.V135M|SPEG_ENST00000396695.2_Intron	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	239					cardiac muscle cell development (GO:0055013)|in utero embryonic development (GO:0001701)|muscle organ development (GO:0007517)|negative regulation of cell proliferation (GO:0008285)|respiratory system development (GO:0060541)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		AGCTAATCTGGTGGGCGCAAG	0.682																																						ENST00000312358.7																			0				breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100						c.(715-717)Gtg>Atg		SPEG complex locus							16	20	18					2																	220309783		2052	4180	6232	SO:0001583	missense	10290				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity	g.chr2:220309783G>A	BC006346	CCDS42824.1, CCDS54432.1	2q35	2013-01-11	2006-04-27	2006-04-27	ENSG00000072195	ENSG00000072195		"Immunoglobulin superfamily / I-set domain containing"	16901	protein-coding gene	gene with protein product		615950	"aortic preferentially expressed gene 1"	APEG1		8663449, 10973969	Standard	NM_005876		Approved	MGC12676, KIAA1297, SPEGalpha, SPEGbeta, BPEG	uc010fwg.3	Q15772	OTTHUMG00000058925	ENST00000312358.7:c.715G>A	2.37:g.220309783G>A	ENSP00000311684:p.Val239Met					SPEG_ENST00000396698.1_Missense_Mutation_p.V135M|SPEG_ENST00000396695.2_Intron	p.V239M	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)	3	847	+		Renal(207;0.0183)	239					A8K0G6|A8MRU0|Q27J74|Q695L1|Q6FGA6|Q6ZQW1|Q6ZTL8|Q9P2P9	Missense_Mutation	SNP	ENST00000312358.7	37	c.715G>A	CCDS42824.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	10.73|10.73	1.433951|1.433951	0.25813|0.25813	.|.	.|.	ENSG00000072195|ENSG00000072195	ENST00000451076|ENST00000312358;ENST00000265327;ENST00000396698	.|T;T	.|0.66099	.|-0.19;0.08	4.58|4.58	4.58|4.58	0.56647|0.56647	.|.	.|0.000000	.|0.33712	.|U	.|0.004630	T|T	0.50274|0.50274	0.1606|0.1606	N|N	0.14661|0.14661	0.345|0.345	0.80722|0.80722	D|D	1|1	.|D	.|0.54772	.|0.968	.|P	.|0.50860	.|0.652	T|T	0.52373|0.52373	-0.8584|-0.8584	5|10	.|0.48119	.|T	.|0.1	.|.	7.9183|7.9183	0.29831|0.29831	0.0866:0.1629:0.7504:0.0|0.0866:0.1629:0.7504:0.0	.|.	.|239	.|Q15772	.|SPEG_HUMAN	D|M	89|239;239;135	.|ENSP00000311684:V239M;ENSP00000379926:V135M	.|ENSP00000265327:V239M	G|V	+|+	2|1	0|0	SPEG|SPEG	220018027|220018027	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	3.957000|3.957000	0.56730|0.56730	2.084000|2.084000	0.62774|0.62774	0.442000|0.442000	0.29010|0.29010	GGT|GTG		0.682	SPEG-004	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130252.2	NM_005876		4	1	0	0	0	1	0	4	1					A	220309783	G	A	220309783	3	1	5	1	0	0	0	0	1	0	0	0	15035	1261	44	3	725	3	SPEG	2	220309783	Missense_Mutation	SNP	G	TCGA-2A-A8VX-01A-11D-A377-08	22042949	220309783	22889590	9	160											
GADL1	339896	broad.mit.edu	37	chr3	30885877	30885877	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttccagatcctgttcccattAccttccatctgtttccacaa	8	15	3	15	0	1	1	0	0	1	1	6	1	6	1	6	0	1	2	6	0	2	5			TCGA-2A-A8VX-01A-11D-A377-08	TCGA-2A-A8VX-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	957baedd-a3e5-4cc3-84bc-d96a98047c96	53b1cab7-43d1-4643-ac22-c93696c913ee	g.chr3:30885877A>G	ENST00000282538.5	-	7	882		c.e7+1		GADL1_ENST00000454381.3_Splice_Site	NM_207359.2	NP_997242.2	Q6ZQY3	GADL1_HUMAN	glutamate decarboxylase-like 1						carboxylic acid metabolic process (GO:0019752)		aspartate 1-decarboxylase activity (GO:0004068)|pyridoxal phosphate binding (GO:0030170)|sulfinoalanine decarboxylase activity (GO:0004782)			breast(2)|endometrium(3)|kidney(2)|lung(17)|upper_aerodigestive_tract(1)	25						TGTTCCCATTACCTTCCATCT	0.393																																						ENST00000454381.3																			0				breast(2)|endometrium(3)|kidney(2)|lung(17)|upper_aerodigestive_tract(1)	25						c.e7+1		glutamate decarboxylase-like 1	Pyridoxal Phosphate(DB00114)						186	189	188					3																	30885877		2203	4300	6503	SO:0001630	splice_region_variant	339896				carboxylic acid metabolic process		carboxy-lyase activity|pyridoxal phosphate binding	g.chr3:30885877A>G	AK128643	CCDS2649.2	3p23-p22	2009-01-14			ENSG00000144644	ENSG00000144644			27949	protein-coding gene	gene with protein product		615601					Standard	NM_207359		Approved		uc003cep.2	Q6ZQY3	OTTHUMG00000130621	ENST00000282538.5:c.731+1T>C	3.37:g.30885877A>G						GADL1_ENST00000282538.5_Splice_Site				Q6ZQY3	GADL1_HUMAN			7	778	-									Splice_Site	SNP	ENST00000282538.5	37		CCDS2649.2	.	.	.	.	.	.	.	.	.	.	A	22.1	4.247115	0.80024	.	.	ENSG00000144644	ENST00000282538;ENST00000454381	.	.	.	5.95	5.95	0.96441	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.4323	0.83853	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	GADL1	30860881	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	8.669000	0.91163	2.281000	0.76405	0.528000	0.53228	.		0.393	GADL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253106.2	NM_207359	Intron	53	65	0	0	0	1	0	53	65					G	30885877	A	G	30885877	5	3	5	1	0	0	0	0	0	0	1	0	6185	405	14	4	868	4	GADL1	3	30885877	Splice_Site	SNP	A	TCGA-2A-A8VX-01A-11D-A377-08		30885877	167136553	10	161											
CCR2	729230	broad.mit.edu	37	chr3	46399066	46399066	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atcagaaataccaacgagagCggtgaagaagtcaccacctt	16	6	9	10	2	2	4	2	1	0	3	2	5	2	4	3	1	3	0	3	1	5	2	rs372092396		TCGA-2A-A8VX-01A-11D-A377-08	TCGA-2A-A8VX-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	957baedd-a3e5-4cc3-84bc-d96a98047c96	53b1cab7-43d1-4643-ac22-c93696c913ee	g.chr3:46399066C>A	ENST00000400888.2	+	1	87	c.48C>A	c.(46-48)agC>agA	p.S16R	CCR2_ENST00000292301.4_Missense_Mutation_p.S16R|CCR2_ENST00000465202.1_Intron|CCR2_ENST00000445132.2_Missense_Mutation_p.S16R			P41597	CCR2_HUMAN	chemokine (C-C motif) receptor 2	16					blood vessel remodeling (GO:0001974)|cellular calcium ion homeostasis (GO:0006874)|cellular defense response (GO:0006968)|cellular homeostasis (GO:0019725)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|cytokine-mediated signaling pathway (GO:0019221)|dendritic cell chemotaxis (GO:0002407)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|JAK-STAT cascade (GO:0007259)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of angiogenesis (GO:0016525)|negative regulation of eosinophil degranulation (GO:0043310)|negative regulation of type 2 immune response (GO:0002829)|positive regulation of alpha-beta T cell proliferation (GO:0046641)|positive regulation of astrocyte chemotaxis (GO:2000464)|positive regulation of CD8-positive, alpha-beta T cell extravasation (GO:2000451)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of hematopoietic stem cell migration (GO:2000473)|positive regulation of immune complex clearance by monocytes and macrophages (GO:0090265)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of monocyte chemotaxis (GO:0090026)|positive regulation of monocyte extravasation (GO:2000439)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell chemotaxis (GO:0010820)|positive regulation of T-helper 1 type immune response (GO:0002827)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|regulation of vascular endothelial growth factor production (GO:0010574)|response to wounding (GO:0009611)|T-helper 17 cell chemotaxis (GO:0035705)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	C-C chemokine receptor activity (GO:0016493)|CCR2 chemokine receptor binding (GO:0031727)|chemokine receptor activity (GO:0004950)|protein homodimerization activity (GO:0042803)			breast(3)|endometrium(1)|large_intestine(1)|liver(2)|lung(7)	14				BRCA - Breast invasive adenocarcinoma(193;0.00114)|KIRC - Kidney renal clear cell carcinoma(197;0.0174)|Kidney(197;0.0206)		CCAACGAGAGCGGTGAAGAAG	0.463																																						ENST00000292301.4																			0				breast(3)|endometrium(1)|large_intestine(1)|liver(2)|lung(7)	14						c.(46-48)agC>agA		chemokine (C-C motif) receptor 2							201	175	183					3																	46399066		1568	3582	5150	SO:0001583	missense	729230				astrocyte cell migration|blood vessel remodeling|cellular defense response|chemokine-mediated signaling pathway|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|immune response|inflammatory response|interspecies interaction between organisms|JAK-STAT cascade|monocyte extravasation|negative regulation of adenylate cyclase activity|negative regulation of angiogenesis|negative regulation of eosinophil degranulation|negative regulation of type 2 immune response|positive regulation of alpha-beta T cell proliferation|positive regulation of immune complex clearance by monocytes and macrophages|positive regulation of inflammatory response|positive regulation of interferon-gamma production|positive regulation of interleukin-2 production|positive regulation of monocyte chemotaxis|positive regulation of T cell chemotaxis|positive regulation of T cell extravasation|positive regulation of T-helper 1 type immune response|positive regulation of tumor necrosis factor biosynthetic process|regulation of vascular endothelial growth factor production|T-helper 17 cell chemotaxis	cytosol|dendrite|integral to plasma membrane|perikaryon|perinuclear region of cytoplasm|soluble fraction	C-C chemokine receptor activity|CCR2 chemokine receptor binding|protein homodimerization activity	g.chr3:46399066C>A		CCDS43078.1, CCDS46813.1	3p21	2012-08-08			ENSG00000121807	ENSG00000121807		"GPCR / Class A : Chemokine receptors : C-C motif", "CD molecules"	1603	protein-coding gene	gene with protein product		601267		CMKBR2		8146186	Standard	NM_001123041		Approved	CC-CKR-2, CKR2, MCP-1-R, CD192, FLJ78302	uc003cpn.4	P41597	OTTHUMG00000156466	ENST00000400888.2:c.48C>A	3.37:g.46399066C>A	ENSP00000383681:p.Ser16Arg					CCR2_ENST00000465202.1_Intron|CCR2_ENST00000400888.2_Missense_Mutation_p.S16R|CCR2_ENST00000445132.2_Missense_Mutation_p.S16R	p.S16R	NM_001123041.2	NP_001116513.2	P41597	CCR2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00114)|KIRC - Kidney renal clear cell carcinoma(197;0.0174)|Kidney(197;0.0206)	2	533	+			16					A0AVQ3|B2RMT0|Q4VBL2	Missense_Mutation	SNP	ENST00000400888.2	37	c.48C>A	CCDS43078.1	.	.	.	.	.	.	.	.	.	.	C	10.84	1.465101	0.26335	.	.	ENSG00000121807	ENST00000445132;ENST00000292301;ENST00000421659;ENST00000400888	T;T;T;T	0.69175	-0.38;-0.36;1.28;-0.36	4.77	-6.29	0.02013	.	.	.	.	.	T	0.39627	0.1085	N	0.19112	0.55	0.09310	N	1	B;B	0.28208	0.203;0.151	B;B	0.25614	0.044;0.062	T	0.24404	-1.0161	9	0.19590	T	0.45	.	4.2396	0.10642	0.1043:0.2494:0.1033:0.5431	.	16;16	P41597;Q4VBL2	CCR2_HUMAN;.	R	16	ENSP00000399285:S16R;ENSP00000292301:S16R;ENSP00000396736:S16R;ENSP00000383681:S16R	ENSP00000292301:S16R	S	+	3	2	CCR2	46374070	0.017000	0.18338	0.000000	0.03702	0.000000	0.00434	1.942000	0.40243	-1.001000	0.03434	-0.143000	0.13931	AGC		0.463	CCR2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000344292.1	NM_000647		81	116	1	0	2.35497e-27	1	2.64934e-27	81	116					A	46399066	C	A	46399066	3	1	5	1	0	0	0	0	1	0	0	0	2941	767	27	5	50	5	CCR2	3	46399066	Missense_Mutation	SNP	C	TCGA-2A-A8VX-01A-11D-A377-08	15513189	46399066	151623364	11	162											
SERPINI2	5276	broad.mit.edu	37	chr3	167170724	167170724	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agaattatttatcatactacCtgttattccagaaaggtcgc	13	14	6	8	1	1	2	1	0	0	2	3	2	2	2	2	1	2	1	2	1	7	7			TCGA-2A-A8VX-01A-11D-A377-08	TCGA-2A-A8VX-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	957baedd-a3e5-4cc3-84bc-d96a98047c96	53b1cab7-43d1-4643-ac22-c93696c913ee	g.chr3:167170724C>A	ENST00000476257.1	-	7	1262	c.964G>T	c.(964-966)Gat>Tat	p.D322Y	SERPINI2_ENST00000264677.4_Splice_Site_p.D322Y|SERPINI2_ENST00000471111.1_Splice_Site_p.D322Y|SERPINI2_ENST00000461846.1_Splice_Site_p.D322Y			O75830	SPI2_HUMAN	serpin peptidase inhibitor, clade I (pancpin), member 2	322					cellular component movement (GO:0006928)|negative regulation of endopeptidase activity (GO:0010951)|regulation of cell adhesion (GO:0030155)|regulation of proteolysis (GO:0030162)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase inhibitor activity (GO:0004867)			NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(20)|prostate(1)|skin(5)|urinary_tract(1)	41						ATCATACTACCTGTTATTCCA	0.318																																						ENST00000476257.1																			0				NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(20)|prostate(1)|skin(5)|urinary_tract(1)	41						c.e7+1		serpin peptidase inhibitor, clade I (pancpin), member 2							50	50	50					3																	167170724		2203	4294	6497	SO:0001630	splice_region_variant	5276				cellular component movement|regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity	g.chr3:167170724C>A	AB006423	CCDS3200.1, CCDS75047.1	3q26.1	2014-02-18	2005-08-18		ENSG00000114204	ENSG00000114204		"Serine (or cysteine) peptidase inhibitors"	8945	protein-coding gene	gene with protein product		605587	"serine (or cysteine) proteinase inhibitor, clade I (neuroserpin), member 2", "serine (or cysteine) proteinase inhibitor, clade I (pancpin), member 2"	PI14		9624529, 24172014	Standard	NM_006217		Approved	PANCPIN, TSA2004, MEPI, pancpin	uc003fes.2	O75830	OTTHUMG00000158231	ENST00000476257.1:c.964+1G>T	3.37:g.167170724C>A						SERPINI2_ENST00000264677.4_Splice_Site_p.D322_splice|SERPINI2_ENST00000461846.1_Splice_Site_p.D322_splice|SERPINI2_ENST00000471111.1_Splice_Site_p.D322_splice	p.D322_splice			O75830	SPI2_HUMAN			7	1262	-			322						Splice_Site	SNP	ENST00000476257.1	37	c.964_splice	CCDS3200.1	.	.	.	.	.	.	.	.	.	.	C	13.57	2.275542	0.40294	.	.	ENSG00000114204	ENST00000476257;ENST00000461846;ENST00000264677;ENST00000471111	T;T;T;T	0.75938	-0.98;-0.98;-0.98;-0.98	5.48	4.61	0.57282	Serpin domain (3);	0.163888	0.52532	D	0.000070	D	0.86585	0.5968	M	0.88377	2.95	0.41149	D	0.986014	D;D	0.71674	0.998;0.998	D;D	0.66847	0.947;0.947	D	0.88588	0.3141	9	.	.	.	.	12.3554	0.55171	0.0:0.9179:0.0:0.0821	.	322;322	B4DDY9;O75830	.;SPI2_HUMAN	Y	322	ENSP00000420621:D322Y;ENSP00000417692:D322Y;ENSP00000264677:D322Y;ENSP00000419407:D322Y	.	D	-	1	0	SERPINI2	168653418	1.000000	0.71417	1.000000	0.80357	0.240000	0.25518	4.440000	0.59975	1.450000	0.47717	-0.251000	0.11542	GAT		0.318	SERPINI2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350450.1	NM_006217	Missense_Mutation	25	71	1	0	1.64293e-13	1	1.80322e-13	25	71					A	167170724	C	A	167170724	5	1	5	1	0	0	0	0	0	0	1	0	14119	695	24	5	269	5	SERPINI2	3	167170724	Splice_Site	SNP	C	TCGA-2A-A8VX-01A-11D-A377-08	120771658	167170724	30851706	12	163											
TECRL	253017	broad.mit.edu	37	chr4	65175614	65175614	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ataaggtttccaaaaggtatCggatgtagtgtatacaatga	15	12	10	4	1	0	1	0	1	0	0	2	2	1	2	1	3	1	4	1	3	8	6			TCGA-2A-A8VX-01A-11D-A377-08	TCGA-2A-A8VX-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	957baedd-a3e5-4cc3-84bc-d96a98047c96	53b1cab7-43d1-4643-ac22-c93696c913ee	g.chr4:65175614C>A	ENST00000381210.3	-	6	697	c.587G>T	c.(586-588)cGa>cTa	p.R196L	TECRL_ENST00000507440.1_Missense_Mutation_p.R196L|TECRL_ENST00000513125.1_5'UTR	NM_001010874.4	NP_001010874.2	Q5HYJ1	TECRL_HUMAN	trans-2,3-enoyl-CoA reductase-like	196					lipid metabolic process (GO:0006629)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	oxidoreductase activity, acting on the CH-CH group of donors (GO:0016627)	p.R196P(1)		endometrium(2)|kidney(5)|large_intestine(7)|lung(30)|prostate(1)|skin(1)|stomach(1)	47						CAAAAGGTATCGGATGTAGTG	0.343																																						ENST00000381210.3																			1	Substitution - Missense(1)	p.R196P(1)	lung(1)	endometrium(2)|kidney(5)|large_intestine(7)|lung(30)|prostate(1)|skin(1)|stomach(1)	47						c.(586-588)cGa>cTa		trans-2,3-enoyl-CoA reductase-like							96	101	100					4																	65175614		2203	4300	6503	SO:0001583	missense	253017				lipid metabolic process	cytoplasm|integral to membrane	oxidoreductase activity, acting on the CH-CH group of donors	g.chr4:65175614C>A	AL833108	CCDS33990.1	4q13.1	2009-07-21			ENSG00000205678	ENSG00000205678			27365	protein-coding gene	gene with protein product	"glycoprotein, synaptic 2-like"					12477932	Standard	NM_001010874		Approved	GPSN2L, SRD5A2L2, DKFZp313D0829, DKFZp313B2333, TERL	uc003hcv.3	Q5HYJ1	OTTHUMG00000160680	ENST00000381210.3:c.587G>T	4.37:g.65175614C>A	ENSP00000370607:p.Arg196Leu					TECRL_ENST00000507440.1_Missense_Mutation_p.R196L|TECRL_ENST00000513125.1_5'UTR	p.R196L	NM_001010874.4	NP_001010874.2	Q5HYJ1	TECRL_HUMAN			6	697	-			196						Missense_Mutation	SNP	ENST00000381210.3	37	c.587G>T	CCDS33990.1	.	.	.	.	.	.	.	.	.	.	C	19.77	3.889977	0.72524	.	.	ENSG00000205678	ENST00000507440;ENST00000381210	T;T	0.50548	0.74;0.74	5.11	5.11	0.69529	.	0.068040	0.56097	D	0.000026	T	0.67748	0.2926	M	0.72118	2.19	0.32172	N	0.581451	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.995	T	0.75736	-0.3213	10	0.87932	D	0	-13.5394	15.2611	0.73625	0.0:1.0:0.0:0.0	.	196;196	Q6IN47;Q5HYJ1	.;TECRL_HUMAN	L	196	ENSP00000426043:R196L;ENSP00000370607:R196L	ENSP00000370607:R196L	R	-	2	0	TECRL	64858209	0.998000	0.40836	0.992000	0.48379	0.911000	0.54048	4.095000	0.57728	2.370000	0.80446	0.555000	0.69702	CGA		0.343	TECRL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361705.4	NM_001010874		5	78	1	0	0.00198382	1	0.0020289	5	78					A	65175614	C	A	65175614	3	1	5	1	0	0	0	0	1	0	0	0	15743	884	31	5	532	5	TECRL	4	65175614	Missense_Mutation	SNP	C	TCGA-2A-A8VX-01A-11D-A377-08		65175614	125978662	13	164											
SCLT1	132320	broad.mit.edu	37	chr4	129924994	129924995	+	Frame_Shift_Ins	INS	-	-	T																															cccaggggaaaggcctccaaINSttttttttcaacagcatctt																										TCGA-2A-A8VX-01A-11D-A377-08	TCGA-2A-A8VX-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	957baedd-a3e5-4cc3-84bc-d96a98047c96	53b1cab7-43d1-4643-ac22-c93696c913ee	g.chr4:129924994_129924995insT	ENST00000281142.5	-	6	830_831	c.327_328insA	c.(325-330)aaattgfs	p.L110fs	SCLT1_ENST00000503215.1_Frame_Shift_Ins_p.L87fs|SCLT1_ENST00000439369.2_Intron|SCLT1_ENST00000434680.1_Frame_Shift_Ins_p.L110fs	NM_144643.2	NP_653244.2	Q96NL6	SCLT1_HUMAN	sodium channel and clathrin linker 1	110					cilium assembly (GO:0042384)|clustering of voltage-gated sodium channels (GO:0045162)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary transition fiber (GO:0097539)|clathrin complex (GO:0071439)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule cytoskeleton (GO:0015630)	sodium channel regulator activity (GO:0017080)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1)	29						AAGGCCTCCAATTTTTTTTCAA	0.381																																						ENST00000281142.5																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1)	29						c.(325-330)aatggafs		sodium channel and clathrin linker 1																																				SO:0001589	frameshift_variant	132320					centrosome		g.chr4:129924994_129924995insT	AK055217	CCDS3740.1	4q28.2	2008-05-02			ENSG00000151466	ENSG00000151466			26406	protein-coding gene	gene with protein product		611399				15797711	Standard	XM_005262732		Approved	hCAP-1A, FLJ30655	uc003igp.2	Q96NL6	OTTHUMG00000133346	ENST00000281142.5:c.328dupA	4.37:g.129925002_129925002dupT	ENSP00000281142:p.Leu110fs					SCLT1_ENST00000434680.1_Frame_Shift_Ins_p.NG109fs|SCLT1_ENST00000503215.1_Frame_Shift_Ins_p.NG86fs|SCLT1_ENST00000439369.2_Intron	p.NG109fs	NM_144643.2	NP_653244.2	Q96NL6	SCLT1_HUMAN			6	830_831	-			109					A4QN04|Q0VAH2|Q6P2M4	Frame_Shift_Ins	INS	ENST00000281142.5	37	c.327_328insA	CCDS3740.1																																																																																				0.381	SCLT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257176.2	NM_144643		7	88						7	88	---	---	---	---	T	129924995	-	T	129924994	7	5	5	1	0	1	1	0	0	0	0	0	13906	98	4	0	1802	0	SCLT1	4	129924994	Frame_Shift_Ins	INS	-	TCGA-2A-A8VX-01A-11D-A377-08	64749380	129924994	61229282	14	165											
CDH12	1010	broad.mit.edu	37	chr5	21752061	21752061	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggcagttggatccacatcatTttcctgtagcctttgatgaa	9	14	9	9	0	1	2	1	2	0	0	3	3	3	3	3	2	1	3	3	2	2	5			TCGA-2A-A8VX-01A-11D-A377-08	TCGA-2A-A8VX-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	957baedd-a3e5-4cc3-84bc-d96a98047c96	53b1cab7-43d1-4643-ac22-c93696c913ee	g.chr5:21752061T>C	ENST00000382254.1	-	15	3256	c.2170A>G	c.(2170-2172)Aat>Gat	p.N724D	CDH12_ENST00000522262.1_Missense_Mutation_p.N684D|RP11-804N13.1_ENST00000522350.1_RNA|CDH12_ENST00000504376.2_Missense_Mutation_p.N724D|CDH12_ENST00000521384.1_5'UTR	NM_004061.3	NP_004052.2	P55289	CAD12_HUMAN	cadherin 12, type 2 (N-cadherin 2)	724					adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						TCCACATCATTTTCCTGTAGC	0.483										HNSCC(59;0.17)																												ENST00000382254.1																			0				NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						c.(2170-2172)Aat>Gat		cadherin 12, type 2 (N-cadherin 2)							259	221	234					5																	21752061		2203	4300	6503	SO:0001583	missense	1010				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:21752061T>C	L33477	CCDS3890.1	5p14.3	2010-01-26			ENSG00000154162	ENSG00000154162		"Cadherins / Major cadherins"	1751	protein-coding gene	gene with protein product		600562				7731968	Standard	NM_004061		Approved	Br-cadherin, CDHB	uc003jgk.2	P55289	OTTHUMG00000090591	ENST00000382254.1:c.2170A>G	5.37:g.21752061T>C	ENSP00000371689:p.Asn724Asp	HNSCC(59;0.17)				CDH12_ENST00000521384.1_5'UTR|CDH12_ENST00000522262.1_Missense_Mutation_p.N684D|CDH12_ENST00000504376.2_Missense_Mutation_p.N724D|RP11-804N13.1_ENST00000522350.1_RNA	p.N724D	NM_004061.3	NP_004052.2	P55289	CAD12_HUMAN			15	3256	-			724					B2RBT1|B7Z2U6|Q86UD2	Missense_Mutation	SNP	ENST00000382254.1	37	c.2170A>G	CCDS3890.1	.	.	.	.	.	.	.	.	.	.	T	12.53	1.965849	0.34659	.	.	ENSG00000154162	ENST00000504376;ENST00000382254;ENST00000522262	T;T;T	0.76839	-1.05;-1.05;-1.05	5.12	3.93	0.45458	Cadherin, cytoplasmic domain (1);	0.216287	0.49305	D	0.000142	T	0.74435	0.3716	M	0.74258	2.255	0.40173	D	0.977204	B;P	0.37914	0.01;0.611	B;B	0.34138	0.071;0.176	T	0.74225	-0.3734	10	0.51188	T	0.08	.	10.9727	0.47448	0.0:0.0:0.2998:0.7001	.	684;724	B7Z2U6;P55289	.;CAD12_HUMAN	D	724;724;684	ENSP00000423577:N724D;ENSP00000371689:N724D;ENSP00000428786:N684D	ENSP00000371689:N724D	N	-	1	0	CDH12	21787818	1.000000	0.71417	0.930000	0.37139	0.906000	0.53458	2.774000	0.47694	0.780000	0.33566	0.383000	0.25322	AAT		0.483	CDH12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207139.1	NM_004061		19	38	0	0	0	1	0	19	38					C	21752061	T	C	21752061	3	2	5	1	0	0	0	0	1	0	0	0	3098	1841	64	4	218	4	CDH12	5	21752061	Missense_Mutation	SNP	T	TCGA-2A-A8VX-01A-11D-A377-08		21752061	159163199	15	166											
SLC45A2	51151	broad.mit.edu	37	chr5	33944917	33944917	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caccatgcatgtgagggtggCgcagtccatgcccttccctc	6	9	11	15	1	0	1	0	1	0	0	3	1	2	1	4	2	2	2	4	2	0	1			TCGA-2A-A8VX-01A-11D-A377-08	TCGA-2A-A8VX-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	957baedd-a3e5-4cc3-84bc-d96a98047c96	53b1cab7-43d1-4643-ac22-c93696c913ee	g.chr5:33944917C>T	ENST00000296589.4	-	7	1575	c.1429G>A	c.(1429-1431)Gcc>Acc	p.A477T	SLC45A2_ENST00000342059.3_Missense_Mutation_p.A418T	NM_016180.3	NP_057264	Q9UMX9	S45A2_HUMAN	solute carrier family 45, member 2	477			A -> T (in OCA4). {ECO:0000269|PubMed:14722913}.		developmental pigmentation (GO:0048066)|melanin biosynthetic process (GO:0042438)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)		p.A477T(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(25)|ovary(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48						GTGAGGGTGGCGCAGTCCATG	0.607																																					Ovarian(31;380 859 8490 22203 49048)	ENST00000296589.4																			1	Substitution - Missense(1)	p.A477T(1)	upper_aerodigestive_tract(1)	breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(25)|ovary(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48	GRCh37	CM040234	SLC45A2	M		c.(1429-1431)Gcc>Acc		solute carrier family 45, member 2							80	54	62					5																	33944917		2203	4300	6503	SO:0001583	missense	51151				melanin biosynthetic process|response to stimulus|transmembrane transport|visual perception	integral to membrane|melanosome membrane		g.chr5:33944917C>T	AF172849	CCDS3901.1, CCDS43308.1, CCDS75232.1	5p13.3	2013-08-06	2005-10-06	2005-10-06	ENSG00000164175	ENSG00000164175		"Solute carriers"	16472	protein-coding gene	gene with protein product		606202	"membrane associated transporter"	MATP		11916009, 11574907	Standard	NM_001012509		Approved	AIM-1, OCA4	uc003jid.3	Q9UMX9	OTTHUMG00000090719	ENST00000296589.4:c.1429G>A	5.37:g.33944917C>T	ENSP00000296589:p.Ala477Thr					SLC45A2_ENST00000342059.3_Missense_Mutation_p.A418T	p.A477T	NM_016180.3	NP_057264.3	Q9UMX9	S45A2_HUMAN			7	1575	-			477		A -> T (in OCA4).			Q6P2P0|Q9BTM3	Missense_Mutation	SNP	ENST00000296589.4	37	c.1429G>A	CCDS3901.1	.	.	.	.	.	.	.	.	.	.	C	36	5.765811	0.96914	.	.	ENSG00000164175	ENST00000296589;ENST00000342059	D;D	0.90504	-2.68;-1.75	5.81	5.81	0.92471	Major facilitator superfamily domain, general substrate transporter (1);	0.000000	0.85682	D	0.000000	D	0.96494	0.8856	M	0.89904	3.07	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.96652	0.9482	10	0.87932	D	0	-15.4041	20.0784	0.97758	0.0:1.0:0.0:0.0	.	477	Q9UMX9	S45A2_HUMAN	T	477;418	ENSP00000296589:A477T;ENSP00000341014:A418T	ENSP00000296589:A477T	A	-	1	0	SLC45A2	33980674	1.000000	0.71417	0.852000	0.33557	0.990000	0.78478	7.597000	0.82733	2.736000	0.93811	0.655000	0.94253	GCC		0.607	SLC45A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207443.2	NM_016180		10	10	0	0	0	1	0	10	10					T	33944917	C	T	33944917	3	4	5	1	0	0	0	0	1	0	0	0	14641	768	27	1	167	1	SLC45A2	5	33944917	Missense_Mutation	SNP	C	TCGA-2A-A8VX-01A-11D-A377-08	12192856	33944917	146970343	16	167											
PCDHGC4	56098	broad.mit.edu	37	chr5	140865402	140865402	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtcgatggagggaacccgcCgagatctggcaccgcagagc	9	5	15	12	4	1	2	0	0	1	2	2	6	1	4	3	3	2	2	3	3	1	0			TCGA-2A-A8VX-01A-11D-A377-08	TCGA-2A-A8VX-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	957baedd-a3e5-4cc3-84bc-d96a98047c96	53b1cab7-43d1-4643-ac22-c93696c913ee	g.chr5:140865402C>T	ENST00000306593.1	+	1	662	c.662C>T	c.(661-663)cCg>cTg	p.P221L	PCDHGA7_ENST00000518325.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGC3_ENST00000308177.3_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB3_ENST00000576222.1_Intron	NM_018928.2|NM_032406.1	NP_061751.1|NP_115782.1	Q9Y5F7	PCDGL_HUMAN	protocadherin gamma subfamily C, 4	221	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(13)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	42			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGGAACCCGCCGAGATCTGGC	0.602																																						ENST00000306593.1																			0				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(13)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	42						c.(661-663)cCg>cTg									29	33	32					5																	140865402		2203	4300	6503	SO:0001583	missense	0							g.chr5:140865402C>T	AF152525	CCDS4262.1, CCDS75349.1	5q31	2010-01-26			ENSG00000242419	ENSG00000242419		"Cadherins / Protocadherins : Clustered"	8717	other	protocadherin		606305				10380929	Standard	NM_018928		Approved	PCDH-GAMMA-C4		Q9Y5F7	OTTHUMG00000129625	ENST00000306593.1:c.662C>T	5.37:g.140865402C>T	ENSP00000306918:p.Pro221Leu					PCDHGC3_ENST00000308177.3_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA10_ENST00000398610.2_Intron	p.P221L	NM_018928.2|NM_032406.1	NP_061751.1|NP_115782.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	662	+								Q495T2|Q9Y5C3	Missense_Mutation	SNP	ENST00000306593.1	37	c.662C>T	CCDS4262.1	.	.	.	.	.	.	.	.	.	.	C	12.37	1.916569	0.33815	.	.	ENSG00000242419	ENST00000306593	T	0.56941	0.43	5.0	5.0	0.66597	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.58278	0.2111	M	0.64080	1.96	0.09310	N	1	D;P	0.63880	0.993;0.95	P;P	0.52646	0.705;0.541	T	0.50668	-0.8801	9	0.21540	T	0.41	.	11.5769	0.50866	0.0:0.9179:0.0:0.0821	.	221;221	Q9Y5F7-2;Q9Y5F7	.;PCDGL_HUMAN	L	221	ENSP00000306918:P221L	ENSP00000306918:P221L	P	+	2	0	PCDHGC4	140845586	0.000000	0.05858	0.604000	0.28916	0.990000	0.78478	0.422000	0.21296	2.596000	0.87737	0.561000	0.74099	CCG		0.602	PCDHGC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251820.1	NM_018928		11	18	0	0	0	1	0	11	18					T	140865402	C	T	140865402	3	4	5	1	0	0	0	0	1	0	0	0	11570	652	23	2	664	2	PCDHGC4	5	140865402	Missense_Mutation	SNP	C	TCGA-2A-A8VX-01A-11D-A377-08	106920485	140865402	40049858	17	168											
TAGAP	117289	broad.mit.edu	37	chr6	159457441	159457441	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttctgacacccctcgggacGtggtccctggtaaagtcttg	6	12	11	12	2	2	1	0	1	2	0	4	2	3	2	3	3	0	1	3	3	2	3			TCGA-2A-A8VX-01A-11D-A377-08	TCGA-2A-A8VX-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	957baedd-a3e5-4cc3-84bc-d96a98047c96	53b1cab7-43d1-4643-ac22-c93696c913ee	g.chr6:159457441G>A	ENST00000367066.3	-	10	1945	c.1614C>T	c.(1612-1614)caC>caT	p.H538H	RP1-111C20.4_ENST00000607391.1_RNA|RP1-111C20.4_ENST00000606470.1_RNA|TAGAP_ENST00000326965.6_Silent_p.H360H|RP1-111C20.4_ENST00000606466.1_RNA|RP1-111C20.4_ENST00000607796.1_RNA	NM_001278733.1|NM_054114.3	NP_001265662.1|NP_473455.2	Q8N103	TAGAP_HUMAN	T-cell activation RhoGTPase activating protein	538					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	guanyl-nucleotide exchange factor activity (GO:0005085)			NS(1)|autonomic_ganglia(1)|endometrium(3)|large_intestine(8)|lung(7)|ovary(2)|skin(1)	23		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.16e-16)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06)		CCCTCGGGACGTGGTCCCTGG	0.547																																						ENST00000367066.3																			0				NS(1)|autonomic_ganglia(1)|endometrium(3)|large_intestine(8)|lung(7)|ovary(2)|skin(1)	23						c.(1612-1614)caC>caT		T-cell activation RhoGTPase activating protein							52	56	55					6																	159457441		2203	4300	6503	SO:0001819	synonymous_variant	117289				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|guanyl-nucleotide exchange factor activity	g.chr6:159457441G>A	AF385429	CCDS5261.1, CCDS5262.1, CCDS5263.1	6q25.3	2011-09-07	2008-03-25		ENSG00000164691	ENSG00000164691		"Rho GTPase activating proteins"	15669	protein-coding gene	gene with protein product		609667	"T-cell activation GTPase activating protein"			16375659, 18311140, 18356936	Standard	NM_152133		Approved	FLJ32631, IDDM21, ARHGAP47	uc003qrz.3	Q8N103	OTTHUMG00000015923	ENST00000367066.3:c.1614C>T	6.37:g.159457441G>A						RP1-111C20.4_ENST00000607391.1_RNA|RP1-111C20.4_ENST00000606470.1_RNA|TAGAP_ENST00000326965.6_Silent_p.H360H|RP1-111C20.4_ENST00000606466.1_RNA|RP1-111C20.4_ENST00000607796.1_RNA	p.H538H	NM_054114.3	NP_473455.2	Q8N103	TAGAP_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.16e-16)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06)	10	1945	-		Breast(66;0.000776)|Ovarian(120;0.0303)	538					Q2NKM8|Q8NI40|Q96KZ2|Q96QA2	Silent	SNP	ENST00000367066.3	37	c.1614C>T	CCDS5261.1																																																																																				0.547	TAGAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042890.1	NM_054114		5	62	0	0	0	1	0	5	62					A	159457441	G	A	159457441	2	1	5	1	0	0	0	0	0	0	0	1	15534	1136	40	1		1	TAGAP	6	159457441	Silent	SNP	G	TCGA-2A-A8VX-01A-11D-A377-08		159457441	11657626	18	169											
SLC26A4	5172	broad.mit.edu	37	chr7	107314687	107314687	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgaacactttctcgtatccaGcagcaatggaactgtattaa	13	11	7	10	2	1	0	0	0	1	0	3	2	2	1	1	1	4	4	1	1	6	4			TCGA-2A-A8VX-01A-11D-A377-08	TCGA-2A-A8VX-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	957baedd-a3e5-4cc3-84bc-d96a98047c96	53b1cab7-43d1-4643-ac22-c93696c913ee	g.chr7:107314687G>A	ENST00000265715.3	+	5	718	c.494G>A	c.(493-495)aGc>aAc	p.S165N		NM_000441.1	NP_000432.1	O43511	S26A4_HUMAN	solute carrier family 26 (anion exchanger), member 4	165					chloride transmembrane transport (GO:1902476)|inorganic anion transport (GO:0015698)|ion transport (GO:0006811)|regulation of pH (GO:0006885)|regulation of protein localization (GO:0032880)|sensory perception of sound (GO:0007605)|sulfate transmembrane transport (GO:1902358)|sulfate transport (GO:0008272)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	chloride transmembrane transporter activity (GO:0015108)|iodide transmembrane transporter activity (GO:0015111)|secondary active sulfate transmembrane transporter activity (GO:0008271)|sulfate transmembrane transporter activity (GO:0015116)			central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(8)|lung(16)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						CTCGTATCCAGCAGCAATGGA	0.463									Pendred syndrome																													ENST00000265715.3																			0				central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(8)|lung(16)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						c.(493-495)aGc>aAc		solute carrier family 26 (anion exchanger), member 4							139	130	133					7																	107314687		2203	4300	6503	SO:0001583	missense	5172	Pendred syndrome	Familial Cancer Database	Goiter-Deafness syndrome	regulation of pH|regulation of protein localization|sensory perception of sound	apical plasma membrane|integral to membrane	chloride transmembrane transporter activity|inorganic anion exchanger activity|iodide transmembrane transporter activity|secondary active sulfate transmembrane transporter activity	g.chr7:107314687G>A	AF030880	CCDS5746.1	7q31	2013-07-18	2013-07-18		ENSG00000091137	ENSG00000091137		"Solute carriers"	8818	protein-coding gene	gene with protein product	"pendrin"	605646	"solute carrier family 26, member 4"	DFNB4		9500541, 11087667	Standard	NM_000441		Approved	PDS	uc003vep.3	O43511	OTTHUMG00000154807	ENST00000265715.3:c.494G>A	7.37:g.107314687G>A	ENSP00000265715:p.Ser165Asn						p.S165N	NM_000441.1	NP_000432.1	O43511	S26A4_HUMAN			5	718	+			165					B7Z266|O43170	Missense_Mutation	SNP	ENST00000265715.3	37	c.494G>A	CCDS5746.1	.	.	.	.	.	.	.	.	.	.	G	7.311	0.614907	0.14129	.	.	ENSG00000091137	ENST00000265715	D	0.93488	-3.23	4.91	1.84	0.25277	.	0.212121	0.40469	N	0.001083	D	0.83041	0.5168	N	0.20328	0.56	0.20821	N	0.999848	B	0.06786	0.001	B	0.04013	0.001	T	0.65861	-0.6065	10	0.11794	T	0.64	.	5.709	0.17925	0.0766:0.1392:0.6402:0.144	.	165	O43511	S26A4_HUMAN	N	165	ENSP00000265715:S165N	ENSP00000265715:S165N	S	+	2	0	SLC26A4	107101923	0.349000	0.24870	0.229000	0.23960	0.035000	0.12851	1.355000	0.34068	0.461000	0.27071	0.655000	0.94253	AGC		0.463	SLC26A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337148.1	NM_000441		41	36	0	0	0	1	0	41	36					A	107314687	G	A	107314687	3	1	5	1	0	0	0	0	1	0	0	0	14519	971	34	3	508	3	SLC26A4	7	107314687	Missense_Mutation	SNP	G	TCGA-2A-A8VX-01A-11D-A377-08		107314687	51823976	19	170											
SLC25A32	81034	broad.mit.edu	37	chr8	104413832	104413832	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tacgacttgatatgggtatgTtgctgcgacagcaaatattt	11	14	10	6	2	0	1	0	1	0	0	0	3	0	1	0	1	4	4	0	1	5	7			TCGA-2A-A8VX-01A-11D-A377-08	TCGA-2A-A8VX-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	957baedd-a3e5-4cc3-84bc-d96a98047c96	53b1cab7-43d1-4643-ac22-c93696c913ee	g.chr8:104413832T>C	ENST00000297578.4	-	6	890	c.724A>G	c.(724-726)Aca>Gca	p.T242A	SLC25A32_ENST00000543107.1_Missense_Mutation_p.T110A|SLC25A32_ENST00000523701.1_5'UTR	NM_030780.3	NP_110407.2	Q9H2D1	MFTC_HUMAN	solute carrier family 25 (mitochondrial folate carrier), member 32	242					folic acid metabolic process (GO:0046655)|folic acid transport (GO:0015884)|mitochondrial transport (GO:0006839)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)	folic acid transporter activity (GO:0008517)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	9			OV - Ovarian serous cystadenocarcinoma(57;2.79e-06)|STAD - Stomach adenocarcinoma(118;0.197)		Folic Acid(DB00158)	TATGGGTATGTTGCTGCGACA	0.378																																						ENST00000297578.4																			0				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	9						c.(724-726)Aca>Gca		solute carrier family 25 (mitochondrial folate carrier), member 32	Folic Acid(DB00158)						145	134	137					8																	104413832		2203	4300	6503	SO:0001583	missense	81034				folic acid metabolic process|mitochondrial transport	integral to membrane|mitochondrial inner membrane	binding|folic acid transporter activity	g.chr8:104413832T>C	AF283645	CCDS6300.1	8q22.3	2013-05-22	2013-03-15		ENSG00000164933	ENSG00000164933		"Solute carriers"	29683	protein-coding gene	gene with protein product		610815	"solute carrier family 25, member 32"			10978331	Standard	NM_030780		Approved	MFTC	uc003yll.4	Q9H2D1	OTTHUMG00000164790	ENST00000297578.4:c.724A>G	8.37:g.104413832T>C	ENSP00000297578:p.Thr242Ala					SLC25A32_ENST00000543107.1_Missense_Mutation_p.T110A|SLC25A32_ENST00000523701.1_5'UTR	p.T242A	NM_030780.3	NP_110407.2	Q9H2D1	MFTC_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;2.79e-06)|STAD - Stomach adenocarcinoma(118;0.197)		6	890	-			242					Q96JZ6|Q96SU7	Missense_Mutation	SNP	ENST00000297578.4	37	c.724A>G	CCDS6300.1	.	.	.	.	.	.	.	.	.	.	T	27.6	4.844248	0.91197	.	.	ENSG00000164933	ENST00000297578;ENST00000424899;ENST00000543107	D;D	0.81996	-1.56;-1.56	5.72	5.72	0.89469	Mitochondrial carrier domain (2);	0.000000	0.85682	D	0.000000	D	0.90174	0.6929	M	0.76727	2.345	0.80722	D	1	D	0.76494	0.999	D	0.72982	0.979	D	0.89181	0.3544	10	0.33940	T	0.23	-26.6622	15.9912	0.80206	0.0:0.0:0.0:1.0	.	242	Q9H2D1	MFTC_HUMAN	A	242;226;110	ENSP00000297578:T242A;ENSP00000443497:T110A	ENSP00000297578:T242A	T	-	1	0	SLC25A32	104483008	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.649000	0.83500	2.172000	0.68678	0.533000	0.62120	ACA		0.378	SLC25A32-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380290.2	NM_030780		21	92	0	0	0	1	0	21	92					C	104413832	T	C	104413832	3	2	5	1	0	0	0	0	1	0	0	0	14496	1725	60	4	231	4	SLC25A32	8	104413832	Missense_Mutation	SNP	T	TCGA-2A-A8VX-01A-11D-A377-08		104413832	41950190	20	171											
ASAP1	50807	broad.mit.edu	37	chr8	131073151	131073151	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cagttctcctggcttaggcgGcaaatctccaatttggggct	7	12	11	11	1	2	0	0	0	2	0	4	0	2	0	2	5	0	4	2	5	3	3			TCGA-2A-A8VX-01A-11D-A377-08	TCGA-2A-A8VX-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	957baedd-a3e5-4cc3-84bc-d96a98047c96	53b1cab7-43d1-4643-ac22-c93696c913ee	g.chr8:131073151G>A	ENST00000518721.1	-	28	3093	c.2866C>T	c.(2866-2868)Ccg>Tcg	p.P956S	ASAP1_ENST00000357668.1_Missense_Mutation_p.P956S	NM_001247996.1|NM_018482.3	NP_001234925.1|NP_060952.2	Q9ULH1	ASAP1_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 1	956	Pro-rich.				cilium morphogenesis (GO:0060271)|regulation of ARF GTPase activity (GO:0032312)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|zinc ion binding (GO:0008270)	p.P956S(1)		breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(22)|ovary(6)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	68						GGCTTAGGCGGCAAATCTCCA	0.572																																						ENST00000357668.1																			1	Substitution - Missense(1)	p.P956S(1)	lung(1)	breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(22)|ovary(6)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	68						c.(2866-2868)Ccg>Tcg		ArfGAP with SH3 domain, ankyrin repeat and PH domain 1							83	101	95					8																	131073151		2203	4300	6503	SO:0001583	missense	50807				cilium morphogenesis|filopodium assembly|regulation of ARF GTPase activity|signal transduction	cytoplasm|membrane	ARF GTPase activator activity|cytoskeletal adaptor activity|SH3 domain binding|zinc ion binding	g.chr8:131073151G>A	AB033075	CCDS6362.1, CCDS75788.1	8q24.1-q24.2	2013-01-11	2008-09-22	2008-09-22	ENSG00000153317	ENSG00000153317		"ADP-ribosylation factor GTPase activating proteins", "Pleckstrin homology (PH) domain containing", "Ankyrin repeat domain containing"	2720	protein-coding gene	gene with protein product	"centaurin, beta 4"	605953	"development and differentiation enhancing factor 1"	DDEF1		9819391	Standard	NM_018482		Approved	PAP, KIAA1249, ZG14P, CENTB4	uc003yta.2	Q9ULH1	OTTHUMG00000164772	ENST00000518721.1:c.2866C>T	8.37:g.131073151G>A	ENSP00000429900:p.Pro956Ser					ASAP1_ENST00000518721.1_Missense_Mutation_p.P956S	p.P956S			Q9ULH1	ASAP1_HUMAN			27	2893	-			956			Pro-rich.		B2RNV3	Missense_Mutation	SNP	ENST00000518721.1	37	c.2866C>T	CCDS6362.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.13|19.13	3.768398|3.768398	0.69878|0.69878	.|.	.|.	ENSG00000153317|ENSG00000153317	ENST00000524124;ENST00000519483|ENST00000343135;ENST00000357668;ENST00000518721	.|T;T	.|0.09255	.|3.0;3.0	5.24|5.24	5.24|5.24	0.73138|0.73138	.|.	.|0.520502	.|0.21834	.|N	.|0.068434	T|T	0.33527|0.33527	0.0866|0.0866	M|M	0.67397|0.67397	2.05|2.05	0.58432|0.58432	D|D	0.999999|0.999999	.|D;D;D	.|0.89917	.|1.0;1.0;1.0	.|D;D;D	.|0.87578	.|0.996;0.996;0.998	T|T	0.02378|0.02378	-1.1168|-1.1168	5|10	.|0.62326	.|D	.|0.03	.|.	17.8071|17.8071	0.88605|0.88605	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|956;956;959	.|B2RNV3;Q9ULH1;Q9ULH1-2	.|.;ASAP1_HUMAN;.	V|S	776;312|959;956;956	.|ENSP00000350297:P956S;ENSP00000429900:P956S	.|ENSP00000344591:P959S	A|P	-|-	2|1	0|0	ASAP1|ASAP1	131142333|131142333	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.763000|0.763000	0.43281|0.43281	7.517000|7.517000	0.81783|0.81783	2.436000|2.436000	0.82500|0.82500	0.655000|0.655000	0.94253|0.94253	GCC|CCG		0.572	ASAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380170.1	NM_018482		4	180	0	0	0	1	0	4	180					A	131073151	G	A	131073151	3	1	5	1	0	0	0	0	1	0	0	0	1010	1203	42	3	535	3	ASAP1	8	131073151	Missense_Mutation	SNP	G	TCGA-2A-A8VX-01A-11D-A377-08	26659319	131073151	15290871	21	172											
SMARCA2	6595	broad.mit.edu	37	chr9	2115841	2115841	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggatctgcaggcccaagaccGagctcaccgcatcgggcagc	9	4	13	15	3	2	1	1	0	1	1	3	3	2	2	3	3	3	4	3	3	1	0	rs281875187		TCGA-2A-A8VX-01A-11D-A377-08	TCGA-2A-A8VX-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	957baedd-a3e5-4cc3-84bc-d96a98047c96	53b1cab7-43d1-4643-ac22-c93696c913ee	g.chr9:2115841G>A	ENST00000382203.1	+	25	3685	c.3476G>A	c.(3475-3477)cGa>cAa	p.R1159Q	SMARCA2_ENST00000382194.1_Missense_Mutation_p.R1159Q|SMARCA2_ENST00000357248.2_Missense_Mutation_p.R1159Q|SMARCA2_ENST00000349721.2_Missense_Mutation_p.R1159Q			P51531	SMCA2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2	1159	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.		R -> G (in NCBRS; dbSNP:rs281875184). {ECO:0000269|PubMed:22366787}.|R -> L (in NCBRS; dbSNP:rs281875187). {ECO:0000269|PubMed:22366787}.|R -> Q (in NCBRS; dbSNP:rs281875187). {ECO:0000269|PubMed:22366787}.		aortic smooth muscle cell differentiation (GO:0035887)|ATP catabolic process (GO:0006200)|chromatin remodeling (GO:0006338)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)	intermediate filament cytoskeleton (GO:0045111)|intracellular membrane-bounded organelle (GO:0043231)|nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	ATP binding (GO:0005524)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|RNA polymerase II transcription coactivator activity (GO:0001105)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)		GBM - Glioblastoma multiforme(50;0.0475)		GCCCAAGACCGAGCTCACCGC	0.577																																						ENST00000382203.1																			0				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	56						c.(3475-3477)cGa>cAa		SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2							29	28	28					9																	2115841		2203	4300	6503	SO:0001583	missense	6595				chromatin remodeling|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development	intermediate filament cytoskeleton|nBAF complex|npBAF complex|nuclear chromatin|nucleoplasm|SWI/SNF complex|WINAC complex	ATP binding|DNA-dependent ATPase activity|helicase activity|protein binding|RNA polymerase II transcription coactivator activity|transcription regulatory region DNA binding	g.chr9:2115841G>A	D26155	CCDS34977.1, CCDS34978.1, CCDS75807.1, CCDS75808.1	9p24.3	2008-11-11	2006-11-09		ENSG00000080503	ENSG00000080503			11098	protein-coding gene	gene with protein product		600014		SNF2L2		8012116	Standard	NM_003070		Approved	BAF190, hSNF2a, hBRM, Sth1p, SNF2LA, BRM, SNF2, SWI2	uc003zhc.3	P51531	OTTHUMG00000019445	ENST00000382203.1:c.3476G>A	9.37:g.2115841G>A	ENSP00000371638:p.Arg1159Gln					SMARCA2_ENST00000382194.1_Missense_Mutation_p.R1159Q|SMARCA2_ENST00000349721.2_Missense_Mutation_p.R1159Q|SMARCA2_ENST00000357248.2_Missense_Mutation_p.R1159Q	p.R1159Q			P51531	SMCA2_HUMAN		GBM - Glioblastoma multiforme(50;0.0475)	25	3685	+		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)	1159			Helicase C-terminal.		B1ALG3|B1ALG4|D3DRH4|D3DRH5	Missense_Mutation	SNP	ENST00000382203.1	37	c.3476G>A	CCDS34977.1	.	.	.	.	.	.	.	.	.	.	G	26.5	4.743012	0.89663	.	.	ENSG00000080503	ENST00000349721;ENST00000357248;ENST00000382203;ENST00000382194	D;D;D;D	0.99143	-5.48;-5.48;-5.48;-5.48	5.67	5.67	0.87782	Helicase, C-terminal (3);	0.000000	0.64402	D	0.000001	D	0.99750	0.9900	H	0.99884	4.89	0.80722	D	1	D;D;D	0.89917	1.0;0.998;0.998	D;D;D	0.87578	0.998;0.986;0.992	D	0.96738	0.9544	10	0.87932	D	0	-14.6554	19.7699	0.96359	0.0:0.0:1.0:0.0	.	760;1159;1159	B4DK35;P51531-2;P51531	.;.;SMCA2_HUMAN	Q	1159	ENSP00000265773:R1159Q;ENSP00000349788:R1159Q;ENSP00000371638:R1159Q;ENSP00000371629:R1159Q	ENSP00000265773:R1159Q	R	+	2	0	SMARCA2	2105841	1.000000	0.71417	0.998000	0.56505	0.986000	0.74619	9.869000	0.99810	2.680000	0.91292	0.563000	0.77884	CGA		0.577	SMARCA2-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000051505.1	NM_003070		10	14	0	0	0	1	0	10	14					A	2115841	G	A	2115841	3	1	5	1	0	0	0	0	1	0	0	0	14769	1058	37	2	3570	2	SMARCA2	9	2115841	Missense_Mutation	SNP	G	TCGA-2A-A8VX-01A-11D-A377-08		2115841	139097590	22	173											
PLEKHA7	144100	broad.mit.edu	37	chr11	16816175	16816175	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	ggtccgcacagggctggtggGaggactgggctgtgggggcg	4	6	23	8	2	0	0	0	0	0	0	1	2	1	2	1	8	0	3	1	8	0	0			TCGA-2A-A8VX-01A-11D-A377-08	TCGA-2A-A8VX-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	957baedd-a3e5-4cc3-84bc-d96a98047c96	53b1cab7-43d1-4643-ac22-c93696c913ee	g.chr11:16816175G>C	ENST00000355661.3	-	19	2615	c.2605C>G	c.(2605-2607)Ccc>Gcc	p.P869A	PLEKHA7_ENST00000332954.4_5'Flank|PLEKHA7_ENST00000448080.2_Missense_Mutation_p.P869A|PLEKHA7_ENST00000532079.1_Intron|PLEKHA7_ENST00000531066.1_Missense_Mutation_p.P869A			Q6IQ23	PKHA7_HUMAN	pleckstrin homology domain containing, family A member 7	869	Pro-rich.				epithelial cell-cell adhesion (GO:0090136)|zonula adherens maintenance (GO:0045218)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|zonula adherens (GO:0005915)	delta-catenin binding (GO:0070097)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	37						GGGCTGGTGGGAGGACTGGGC	0.602																																						ENST00000355661.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	37						c.(2605-2607)Ccc>Gcc		pleckstrin homology domain containing, family A member 7							60	67	65					11																	16816175		2200	4294	6494	SO:0001583	missense	144100				epithelial cell-cell adhesion|zonula adherens maintenance	centrosome|zonula adherens	delta-catenin binding	g.chr11:16816175G>C	BC033239	CCDS31434.1	11p15	2013-01-10			ENSG00000166689	ENSG00000166689		"Pleckstrin homology (PH) domain containing"	27049	protein-coding gene	gene with protein product		612686				12477932	Standard	NM_175058		Approved	DKFZp686M22243	uc001mmo.3	Q6IQ23	OTTHUMG00000165954	ENST00000355661.3:c.2605C>G	11.37:g.16816175G>C	ENSP00000347883:p.Pro869Ala					PLEKHA7_ENST00000532079.1_Intron|PLEKHA7_ENST00000448080.2_Missense_Mutation_p.P869A|PLEKHA7_ENST00000531066.1_Missense_Mutation_p.P869A	p.P869A			Q6IQ23	PKHA7_HUMAN			19	2615	-			869			Pro-rich.		B4DK33|B4DWC3|Q86VZ7	Missense_Mutation	SNP	ENST00000355661.3	37	c.2605C>G	CCDS31434.1	.	.	.	.	.	.	.	.	.	.	G	15.96	2.987735	0.53934	.	.	ENSG00000166689	ENST00000531066;ENST00000355661;ENST00000448080	T;T;T	0.19250	2.16;2.16;2.16	5.6	5.6	0.85130	.	0.237483	0.42682	D	0.000668	T	0.16981	0.0408	L	0.44542	1.39	0.34114	D	0.663314	B;B;P;P	0.43662	0.4;0.065;0.78;0.814	B;B;B;B	0.38985	0.078;0.018;0.192;0.287	T	0.08700	-1.0709	10	0.09843	T	0.71	-19.1957	13.2315	0.59947	0.0729:0.0:0.9271:0.0	.	443;869;869;869	Q6IQ23-3;E9PKC0;Q6IQ23;Q6IQ23-2	.;.;PKHA7_HUMAN;.	A	869	ENSP00000435389:P869A;ENSP00000347883:P869A;ENSP00000416895:P869A	ENSP00000347883:P869A	P	-	1	0	PLEKHA7	16772751	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	5.825000	0.69286	2.806000	0.96561	0.655000	0.94253	CCC		0.602	PLEKHA7-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000387242.2	NM_175058		3	82	0	0	0	1	0	3	82					C	16816175	G	C	16816175	3	2	5	1	0	0	0	0	1	0	0	0	12061	1174	41	5	780	5	PLEKHA7	11	16816175	Missense_Mutation	SNP	G	TCGA-2A-A8VX-01A-11D-A377-08		16816175	118190341	23	174											
OR5A1	219982	broad.mit.edu	37	chr11	59211157	59211157	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atatttaggcttcacttttgCggacccaacatcatcaacca	12	12	5	12	1	3	0	3	0	0	0	3	1	3	1	2	2	3	1	2	2	4	6	rs150991894	byFrequency	TCGA-2A-A8VX-01A-11D-A377-08	TCGA-2A-A8VX-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	957baedd-a3e5-4cc3-84bc-d96a98047c96	53b1cab7-43d1-4643-ac22-c93696c913ee	g.chr11:59211157C>T	ENST00000302030.2	+	1	541	c.516C>T	c.(514-516)tgC>tgT	p.C172C		NM_001004728.1	NP_001004728.1	Q8NGJ0	OR5A1_HUMAN	olfactory receptor, family 5, subfamily A, member 1	172						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.C172C(2)		central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	28						TTCACTTTTGCGGACCCAACA	0.547																																						ENST00000302030.2																			2	Substitution - coding silent(2)	p.C172C(2)	prostate(1)|endometrium(1)	central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	28						c.(514-516)tgC>tgT		olfactory receptor, family 5, subfamily A, member 1		C		0,4402		0,0,2201	261	254	256		516	-5.9	0.4	11	dbSNP_134	256	3,8587	3.0+/-9.4	0,3,4292	no	coding-synonymous	OR5A1	NM_001004728.1		0,3,6493	TT,TC,CC		0.0349,0.0,0.0231		172/316	59211157	3,12989	2201	4295	6496	SO:0001819	synonymous_variant	219982				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:59211157C>T	AB065804	CCDS31561.1	11q12.1	2012-08-09			ENSG00000172320	ENSG00000172320		"GPCR / Class A : Olfactory receptors"	8319	protein-coding gene	gene with protein product				OR5A1P			Standard	NM_001004728		Approved	OST181	uc001nnx.1	Q8NGJ0	OTTHUMG00000167339	ENST00000302030.2:c.516C>T	11.37:g.59211157C>T							p.C172C	NM_001004728.1	NP_001004728.1	Q8NGJ0	OR5A1_HUMAN			1	541	+			172					B9EH58|Q6IFF2|Q96RB1	Silent	SNP	ENST00000302030.2	37	c.516C>T	CCDS31561.1																																																																																				0.547	OR5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394233.1	NM_001004728		5	233	0	0	0	1	0	5	233					T	59211157	C	T	59211157	2	4	5	1	0	0	0	0	0	0	0	1	11139	776	27	1		1	OR5A1	11	59211157	Silent	SNP	C	TCGA-2A-A8VX-01A-11D-A377-08	42394982	59211157	75795359	24	175											
ARID2	196528	broad.mit.edu	37	chr12	46287432	46287435	+	Frame_Shift_Del	DEL	TAAC	TAAC	-																															ggatgaaaaagagggaccaaTaactaaacacatccgactaa																										TCGA-2A-A8VX-01A-11D-A377-08	TCGA-2A-A8VX-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	957baedd-a3e5-4cc3-84bc-d96a98047c96	53b1cab7-43d1-4643-ac22-c93696c913ee	g.chr12:46287432_46287435delTAAC	ENST00000334344.6	+	20	5463_5466	c.5291_5294delTAAC	c.(5290-5295)ataactfs	p.IT1764fs	ARID2_ENST00000479608.1_3'UTR|ARID2_ENST00000457135.1_Frame_Shift_Del_p.IT372fs|ARID2_ENST00000422737.1_Frame_Shift_Del_p.IT1615fs|ARID2_ENST00000444670.1_Frame_Shift_Del_p.IT1374fs	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	1764					chromatin modification (GO:0016568)|nucleosome disassembly (GO:0006337)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		GAGGGACCAATAACTAAACACATC	0.333			"N, S, F"		hepatocellular carcinoma																																	ENST00000334344.6				Rec	yes		12	12q12	196528	"N, S, F"	AT rich interactive domain 2			E			hepatocellular carcinoma		0				NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116						c.(5290-5295)atfs		AT rich interactive domain 2 (ARID, RFX-like)																																				SO:0001589	frameshift_variant	196528				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr12:46287432_46287435delTAAC		CCDS31783.1	12q13.11	2013-02-07			ENSG00000189079	ENSG00000189079		"-"	18037	protein-coding gene	gene with protein product		609539					Standard	NM_152641		Approved	KIAA1557, DKFZp686G052, FLJ30619, BAF200	uc001ros.1	Q68CP9	OTTHUMG00000150487	ENST00000334344.6:c.5291_5294delTAAC	12.37:g.46287432_46287435delTAAC	ENSP00000335044:p.Ile1764fs					ARID2_ENST00000422737.1_Frame_Shift_Del_p.IT1615fs|ARID2_ENST00000479608.1_3'UTR|ARID2_ENST00000457135.1_Frame_Shift_Del_p.IT372fs|ARID2_ENST00000444670.1_Frame_Shift_Del_p.IT1374fs	p.IT1764fs	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)	20	5463_5466	+	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	1764					Q15KG9|Q5EB51|Q645I3|Q6ZRY5|Q7Z3I5|Q86T28|Q96SJ6|Q9HCL5	Frame_Shift_Del	DEL	ENST00000334344.6	37	c.5291_5294delTAAC	CCDS31783.1																																																																																				0.333	ARID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318380.2	XM_350875		50	68						50	68	---	---	---	---	-	46287435	TAAC	-	46287432	7	5	5	1	0	1	0	1	0	0	0	0	915	1406	49	0	5369	0	ARID2	12	46287432	Frame_Shift_Del	DEL	TAAC	TCGA-2A-A8VX-01A-11D-A377-08		46287432	87564463	25	176											
UTP20	27340	broad.mit.edu	37	chr12	101773277	101773277	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatggaataccaaaaagaccAaaaaacacctcccagaacct	21	4	4	12	0	0	2	0	0	0	2	1	3	1	3	5	1	3	0	5	1	9	1			TCGA-2A-A8VX-01A-11D-A377-08	TCGA-2A-A8VX-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	957baedd-a3e5-4cc3-84bc-d96a98047c96	53b1cab7-43d1-4643-ac22-c93696c913ee	g.chr12:101773277A>G	ENST00000261637.4	+	57	7699	c.7525A>G	c.(7525-7527)Aaa>Gaa	p.K2509E		NM_014503.2	NP_055318.2	O75691	UTP20_HUMAN	UTP20, small subunit (SSU) processome component, homolog (yeast)	2509					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000480)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000447)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000472)|negative regulation of cell proliferation (GO:0008285)|rRNA processing (GO:0006364)	90S preribosome (GO:0030686)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|preribosome, small subunit precursor (GO:0030688)|small-subunit processome (GO:0032040)	poly(A) RNA binding (GO:0044822)			NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						CAAAAAGACCAAAAAACACCT	0.453																																						ENST00000261637.4																			0				NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						c.(7525-7527)Aaa>Gaa		UTP20, small subunit (SSU) processome component, homolog (yeast)							115	111	112					12																	101773277		2203	4300	6503	SO:0001583	missense	27340				endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation	90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome	protein binding	g.chr12:101773277A>G	AJ006778	CCDS9081.1	12q23	2006-02-11				ENSG00000120800			17897	protein-coding gene	gene with protein product	"down regulated in metastasis"	612822				9673349, 15590835, 12837249	Standard	NM_014503		Approved	DRIM	uc001tia.1	O75691	OTTHUMG00000170270	ENST00000261637.4:c.7525A>G	12.37:g.101773277A>G	ENSP00000261637:p.Lys2509Glu						p.K2509E	NM_014503.2	NP_055318.2	O75691	UTP20_HUMAN			57	7699	+			2509					Q9H3H4	Missense_Mutation	SNP	ENST00000261637.4	37	c.7525A>G	CCDS9081.1	.	.	.	.	.	.	.	.	.	.	A	0.012	-1.686672	0.00738	.	.	ENSG00000120800	ENST00000261637	T	0.18174	2.23	6.04	2.31	0.28768	.	0.385420	0.32703	N	0.005754	T	0.08802	0.0218	L	0.34521	1.04	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.40720	-0.9548	10	0.02654	T	1	-12.5918	5.3662	0.16115	0.5487:0.2533:0.198:0.0	.	2509	O75691	UTP20_HUMAN	E	2509	ENSP00000261637:K2509E	ENSP00000261637:K2509E	K	+	1	0	UTP20	100297408	0.982000	0.34865	0.100000	0.21137	0.217000	0.24651	2.385000	0.44371	0.513000	0.28278	0.523000	0.50628	AAA		0.453	UTP20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408242.1	NM_014503		25	42	0	0	0	1	0	25	42					G	101773277	A	G	101773277	3	3	5	1	0	0	0	0	1	0	0	0	17096	131	5	4	7751	4	UTP20	12	101773277	Missense_Mutation	SNP	A	TCGA-2A-A8VX-01A-11D-A377-08	55485845	101773277	32078618	26	177											
NAA25	80018	broad.mit.edu	37	chr12	112528660	112528660	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gttctctgtaaaccaattgcCtttaaaacctgatagcaaca	14	12	5	10	0	1	1	0	1	1	0	2	1	1	1	3	0	5	3	3	0	7	6			TCGA-2A-A8VX-01A-11D-A377-08	TCGA-2A-A8VX-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	957baedd-a3e5-4cc3-84bc-d96a98047c96	53b1cab7-43d1-4643-ac22-c93696c913ee	g.chr12:112528660C>T	ENST00000261745.4	-	3	401	c.153G>A	c.(151-153)aaG>aaA	p.K51K		NM_024953.3	NP_079229.2	Q14CX7	NAA25_HUMAN	N(alpha)-acetyltransferase 25, NatB auxiliary subunit	51						cytoplasm (GO:0005737)				autonomic_ganglia(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(1)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	46						AACCAATTGCCTTTAAAACCT	0.398																																						ENST00000261745.4																			0				autonomic_ganglia(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(1)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	46						c.(151-153)aaG>aaA		N(alpha)-acetyltransferase 25, NatB auxiliary subunit							106	103	104					12																	112528660		2203	4300	6503	SO:0001819	synonymous_variant	80018					cytoplasm	protein binding	g.chr12:112528660C>T	AB054990	CCDS9159.1	12q24.13	2013-10-11	2010-01-14	2010-01-14		ENSG00000111300		"N(alpha)-acetyltransferase subunits"	25783	protein-coding gene	gene with protein product		612755	"chromosome 12 open reading frame 30"	C12orf30		19660095	Standard	NM_024953		Approved	FLJ13089	uc001ttm.3	Q14CX7	OTTHUMG00000169638	ENST00000261745.4:c.153G>A	12.37:g.112528660C>T							p.K51K	NM_024953.3	NP_079229.2	Q14CX7	NAA25_HUMAN			3	401	-			51					A0JLU7|Q6MZH1|Q7Z4N6|Q9H911	Silent	SNP	ENST00000261745.4	37	c.153G>A	CCDS9159.1	.	.	.	.	.	.	.	.	.	.	C	8.987	0.976863	0.18812	.	.	ENSG00000111300	ENST00000547133	.	.	.	5.49	1.1	0.20463	.	.	.	.	.	T	0.59514	0.2199	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.55186	-0.8180	4	.	.	.	-8.5724	11.4746	0.50291	0.0:0.6556:0.0:0.3444	.	.	.	.	S	13	.	.	G	-	1	0	NAA25	111013043	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	1.997000	0.40786	0.295000	0.22570	0.637000	0.83480	GGC		0.398	NAA25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405205.1	NM_024953		33	47	0	0	0	1	0	33	47					T	112528660	C	T	112528660	2	4	5	1	0	0	0	0	0	0	0	1	10121	680	24	3		3	NAA25	12	112528660	Silent	SNP	C	TCGA-2A-A8VX-01A-11D-A377-08	10755383	112528660	21323235	27	178											
FOXA1	3169	broad.mit.edu	37	chr14	38061223	38061228	+	In_Frame_Del	DEL	TCTCGA	TCTCGA	-																															gcggcgcaagtagcagccgtTctcgaacatgttgccggagt																										TCGA-2A-A8VX-01A-11D-A377-08	TCGA-2A-A8VX-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	957baedd-a3e5-4cc3-84bc-d96a98047c96	53b1cab7-43d1-4643-ac22-c93696c913ee	g.chr14:38061223_38061228delTCTCGA	ENST00000250448.2	-	2	822_827	c.761_766delTCGAGA	c.(760-768)ttcgagaac>tac	p.254_256FEN>Y	FOXA1_ENST00000545425.2_5'UTR|FOXA1_ENST00000540786.1_In_Frame_Del_p.221_223FEN>Y	NM_004496.3	NP_004487.2	P55317	FOXA1_HUMAN	forkhead box A1	254					anatomical structure formation involved in morphogenesis (GO:0048646)|chromatin remodeling (GO:0006338)|dorsal/ventral neural tube patterning (GO:0021904)|epithelial cell maturation involved in prostate gland development (GO:0060743)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|epithelial-mesenchymal signaling involved in prostate gland development (GO:0060738)|glucose homeostasis (GO:0042593)|hormone metabolic process (GO:0042445)|lung epithelial cell differentiation (GO:0060487)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron fate specification (GO:0048665)|positive regulation of cell-cell adhesion mediated by cadherin (GO:2000049)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prostate gland epithelium morphogenesis (GO:0060740)|prostate gland stromal morphogenesis (GO:0060741)|response to estradiol (GO:0032355)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)	microvillus (GO:0005902)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|endometrium(1)|large_intestine(2)|lung(3)|prostate(12)	19	Breast(36;0.0954)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		Lung(238;5.41e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0454)|LUSC - Lung squamous cell carcinoma(13;0.0917)|all cancers(34;0.0925)|BRCA - Breast invasive adenocarcinoma(188;0.239)	GBM - Glioblastoma multiforme(112;0.0222)		TAGCAGCCGTTCTCGAACATGTTGCC	0.689																																						ENST00000250448.2																			0				breast(1)|endometrium(1)|large_intestine(2)|lung(3)|prostate(12)	19						c.(760-768)tac>t		forkhead box A1																																				SO:0001651	inframe_deletion	3169				chromatin remodeling|embryo development|epithelial cell maturation involved in prostate gland development|epithelial tube branching involved in lung morphogenesis|epithelial-mesenchymal signaling involved in prostate gland development|glucose homeostasis|lung epithelial cell differentiation|negative regulation of survival gene product expression|neuron fate specification|pattern specification process|positive regulation of estrogen receptor signaling pathway|positive regulation of mitotic cell cycle|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|prostate gland epithelium morphogenesis|prostate gland stromal morphogenesis|response to estradiol stimulus|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development	transcription factor complex	DNA bending activity|double-stranded DNA binding|protein domain specific binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding	g.chr14:38061223_38061228delTCTCGA	U39840	CCDS9665.1	14q12-q13	2008-04-10		2002-09-20	ENSG00000129514	ENSG00000129514		"Forkhead boxes"	5021	protein-coding gene	gene with protein product		602294	"hepatocyte nuclear factor 3, alpha"	HNF3A		9119385, 8652662	Standard	NM_004496		Approved		uc001wuf.4	P55317	OTTHUMG00000140253	ENST00000250448.2:c.761_766delTCGAGA	14.37:g.38061223_38061228delTCTCGA	ENSP00000250448:p.Phe254_Asn256delinsTyr					FOXA1_ENST00000545425.2_5'UTR|FOXA1_ENST00000540786.1_In_Frame_Del_p.FEN221del	p.FEN254del	NM_004496.3	NP_004487.2	P55317	FOXA1_HUMAN	Lung(238;5.41e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0454)|LUSC - Lung squamous cell carcinoma(13;0.0917)|all cancers(34;0.0925)|BRCA - Breast invasive adenocarcinoma(188;0.239)	GBM - Glioblastoma multiforme(112;0.0222)	2	822_827	-	Breast(36;0.0954)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		254					B2R9H6|B7ZAP5|Q9H2A0	In_Frame_Del	DEL	ENST00000250448.2	37	c.761_766delTCGAGA	CCDS9665.1																																																																																				0.689	FOXA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276735.1			11	12						11	12	---	---	---	---	-	38061228	TCTCGA	-	38061223	7	5	5	1	0	1	0	1	0	0	0	0	5989	1783	62	0	656	0	FOXA1	14	38061223	In_Frame_Del	DEL	TCTCGA	TCGA-2A-A8VX-01A-11D-A377-08		38061223	69288317	28	179											
LCMT2	9836	broad.mit.edu	37	chr15	43622404	43622404	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggtttttaagcgaaaatagAgcgagtcgaagccagcgccg	12	7	13	9	6	0	1	0	0	0	1	1	4	0	1	2	1	4	1	2	1	5	4			TCGA-2A-A8VX-01A-11D-A377-08	TCGA-2A-A8VX-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	957baedd-a3e5-4cc3-84bc-d96a98047c96	53b1cab7-43d1-4643-ac22-c93696c913ee	g.chr15:43622404A>C	ENST00000305641.5	-	1	399	c.284T>G	c.(283-285)cTc>cGc	p.L95R	ADAL_ENST00000428046.3_5'Flank|ADAL_ENST00000389651.4_5'Flank|LCMT2_ENST00000567039.1_Intron|ADAL_ENST00000422466.2_5'Flank|LCMT2_ENST00000544735.1_Intron	NM_014793.4	NP_055608.2	O60294	TYW4_HUMAN	leucine carboxyl methyltransferase 2	95					tRNA processing (GO:0008033)		methyltransferase activity (GO:0008168)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(2)|liver(1)|lung(9)|skin(1)|urinary_tract(1)	20		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;8.1e-07)	L-Leucine(DB00149)	GCGAAAATAGAGCGAGTCGAA	0.642																																						ENST00000305641.5																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(2)|liver(1)|lung(9)|skin(1)|urinary_tract(1)	20						c.(283-285)cTc>cGc		leucine carboxyl methyltransferase 2	L-Leucine(DB00149)						17	22	20					15																	43622404		2155	4237	6392	SO:0001583	missense	9836				tRNA processing		methyltransferase activity|protein binding	g.chr15:43622404A>C	AF265443	CCDS10094.1	15q15.3	2007-01-26			ENSG00000168806	ENSG00000168806			17558	protein-coding gene	gene with protein product	"tRNA-yW synthesizing protein 4"	611246				9628581, 17150819	Standard	NM_014793		Approved	KIAA0547, MGC9534, TYW4, PPM2	uc001zrg.3	O60294	OTTHUMG00000130705	ENST00000305641.5:c.284T>G	15.37:g.43622404A>C	ENSP00000307214:p.Leu95Arg					LCMT2_ENST00000567039.1_Intron|LCMT2_ENST00000544735.1_Intron	p.L95R	NM_014793.4	NP_055608.2	O60294	LCMT2_HUMAN		GBM - Glioblastoma multiforme(94;8.1e-07)	1	399	-		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)	95					Q4JFT6|Q96B55|Q9NR10	Missense_Mutation	SNP	ENST00000305641.5	37	c.284T>G	CCDS10094.1	.	.	.	.	.	.	.	.	.	.	A	12.32	1.901348	0.33535	.	.	ENSG00000168806	ENST00000305641	T	0.14766	2.48	5.55	5.55	0.83447	.	0.174753	0.37809	N	0.001925	T	0.10766	0.0263	N	0.17872	0.535	0.58432	D	0.999991	P	0.44195	0.828	B	0.43194	0.411	T	0.29243	-1.0018	10	0.17832	T	0.49	-16.5671	13.6954	0.62575	1.0:0.0:0.0:0.0	.	95	O60294	LCMT2_HUMAN	R	95	ENSP00000307214:L95R	ENSP00000307214:L95R	L	-	2	0	LCMT2	41409696	0.941000	0.31946	0.755000	0.31263	0.003000	0.03518	5.605000	0.67634	2.333000	0.79357	0.533000	0.62120	CTC		0.642	LCMT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253205.1	NM_014793		16	29	0	0	0	1	0	16	29					C	43622404	A	C	43622404	3	2	5	1	0	0	0	0	1	0	0	0	8679	304	11	5	1780	5	LCMT2	15	43622404	Missense_Mutation	SNP	A	TCGA-2A-A8VX-01A-11D-A377-08		43622404	58908988	29	180											
RPS2	6187	broad.mit.edu	37	chr16	2014492	2014492	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ccgcgagctccgcggcctcgGccccggccccgtccacggcc	2	3	13	23	8	0	0	0	0	0	0	3	1	2	0	9	4	1	1	9	4	0	0			TCGA-2A-A8VX-01A-11D-A377-08	TCGA-2A-A8VX-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	957baedd-a3e5-4cc3-84bc-d96a98047c96	53b1cab7-43d1-4643-ac22-c93696c913ee	g.chr16:2014492G>A	ENST00000343262.4	-	2	191	c.135C>T	c.(133-135)ggC>ggT	p.G45G	SNHG9_ENST00000459373.1_lincRNA|RNF151_ENST00000569714.1_5'Flank|RPS2_ENST00000526522.1_Silent_p.G45G|RNF151_ENST00000569210.2_5'Flank|RPS2_ENST00000529806.1_Silent_p.G45G|SNORA10_ENST00000384084.1_RNA|RPS2_ENST00000530225.1_Silent_p.G45G|SNORA64_ENST00000384674.1_RNA|RNF151_ENST00000321392.3_5'Flank	NM_002952.3	NP_002943.2	P15880	RS2_HUMAN	ribosomal protein S2	45	Arg/Gly-rich.				cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|positive regulation of transferase activity (GO:0051347)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|cytosolic small ribosomal subunit (GO:0022627)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|fibroblast growth factor binding (GO:0017134)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|urinary_tract(2)	7						CGCGGCCTCGGCCCCGGCCCC	0.766																																						ENST00000529806.1																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|urinary_tract(2)	7						c.(133-135)ggC>ggT		ribosomal protein S2							7	11	9					16																	2014492		2032	4069	6101	SO:0001819	synonymous_variant	6187				endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit|nucleoplasm	fibroblast growth factor 1 binding|fibroblast growth factor 3 binding|RNA binding|structural constituent of ribosome	g.chr16:2014492G>A	AB007147	CCDS10452.1	16p13.3	2011-04-05			ENSG00000140988	ENSG00000140988		"S ribosomal proteins"	10404	protein-coding gene	gene with protein product		603624				9582194	Standard	NM_002952		Approved	LLREP3, S2	uc002cno.2	P15880	OTTHUMG00000128708	ENST00000343262.4:c.135C>T	16.37:g.2014492G>A						RPS2_ENST00000343262.4_Silent_p.G45G|RPS2_ENST00000530225.1_Silent_p.G45G|RPS2_ENST00000526522.1_Silent_p.G45G	p.G45G			P15880	RS2_HUMAN			1	321	-			45					B2R5G0|D3DU82|Q3MIB1	Silent	SNP	ENST00000343262.4	37	c.135C>T	CCDS10452.1																																																																																				0.766	RPS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250613.2	NM_002952		11	7	0	0	0	1	0	11	7					A	2014492	G	A	2014492	2	1	5	1	0	0	0	0	0	0	0	1	13631	1190	42	3		3	RPS2	16	2014492	Silent	SNP	G	TCGA-2A-A8VX-01A-11D-A377-08		2014492	88340261	30	181											
CALB2	794	broad.mit.edu	37	chr16	71411574	71411574	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctgtatcttcacagctggCgcagatcctgccaaccgaag	9	9	9	14	2	3	1	1	0	2	1	4	2	4	1	3	1	3	3	3	1	3	2			TCGA-2A-A8VX-01A-11D-A377-08	TCGA-2A-A8VX-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	957baedd-a3e5-4cc3-84bc-d96a98047c96	53b1cab7-43d1-4643-ac22-c93696c913ee	g.chr16:71411574C>T	ENST00000302628.4	+	4	343	c.266C>T	c.(265-267)gCg>gTg	p.A89V	CALB2_ENST00000349553.5_Missense_Mutation_p.A89V	NM_001740.4	NP_001731.2	P22676	CALB2_HUMAN	calbindin 2	89	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.				cytosolic calcium ion homeostasis (GO:0051480)	cytoplasm (GO:0005737)|gap junction (GO:0005921)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	18		Ovarian(137;0.125)				TCACAGCTGGCGCAGATCCTG	0.557																																						ENST00000302628.4																			0				NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	18						c.(265-267)gCg>gTg		calbindin 2							100	90	93					16																	71411574		2198	4300	6498	SO:0001583	missense	794						calcium ion binding	g.chr16:71411574C>T	X56667	CCDS10899.1	16q22.2	2013-01-10	2008-05-19		ENSG00000172137	ENSG00000172137		"EF-hand domain containing"	1435	protein-coding gene	gene with protein product	"calretinin"	114051	"calbindin 2, 29kDa (calretinin)"			1906795	Standard	NM_001740		Approved	CAL2	uc002faa.4	P22676	OTTHUMG00000137589	ENST00000302628.4:c.266C>T	16.37:g.71411574C>T	ENSP00000307508:p.Ala89Val					CALB2_ENST00000349553.5_Missense_Mutation_p.A89V	p.A89V	NM_001740.4	NP_001731.2	P22676	CALB2_HUMAN			4	343	+		Ovarian(137;0.125)	89			EF-hand 2.		A8K4Y1|Q53HD2|Q96BK4	Missense_Mutation	SNP	ENST00000302628.4	37	c.266C>T	CCDS10899.1	.	.	.	.	.	.	.	.	.	.	C	23.8	4.460107	0.84317	.	.	ENSG00000172137	ENST00000349553;ENST00000302628	T;T	0.65364	-0.15;-0.15	5.48	5.48	0.80851	EF-hand-like domain (1);	0.144262	0.64402	D	0.000007	T	0.55433	0.1920	L	0.42744	1.35	0.80722	D	1	P;P	0.45768	0.866;0.661	B;B	0.38880	0.284;0.195	T	0.59547	-0.7434	10	0.46703	T	0.11	-6.7839	17.2874	0.87146	0.0:1.0:0.0:0.0	.	89;89	A6NER6;P22676	.;CALB2_HUMAN	V	89	ENSP00000340294:A89V;ENSP00000307508:A89V	ENSP00000307508:A89V	A	+	2	0	CALB2	69969075	1.000000	0.71417	0.999000	0.59377	0.973000	0.67179	5.163000	0.64948	2.754000	0.94517	0.603000	0.83216	GCG		0.557	CALB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268988.1	NM_001740		6	41	0	0	0	1	0	6	41					T	71411574	C	T	71411574	3	4	5	1	0	0	0	0	1	0	0	0	2574	768	27	1	280	1	CALB2	16	71411574	Missense_Mutation	SNP	C	TCGA-2A-A8VX-01A-11D-A377-08	69397082	71411574	18943179	31	182											
ZFHX3	463	broad.mit.edu	37	chr16	72831173	72831189	+	Frame_Shift_Del	DEL	GGGATGTAGAAAGGGAA	GGGATGTAGAAAGGGAA	-																															taagctggaactcagcactgGggatgtagaaagggaagagg																										TCGA-2A-A8VX-01A-11D-A377-08	TCGA-2A-A8VX-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	957baedd-a3e5-4cc3-84bc-d96a98047c96	53b1cab7-43d1-4643-ac22-c93696c913ee	g.chr16:72831173_72831189delGGGATGTAGAAAGGGAA	ENST00000268489.5	-	9	6064_6080	c.5392_5408delTTCCCTTTCTACATCCC	c.(5392-5409)ttccctttctacatccccfs	p.FPFYIP1798fs	ZFHX3_ENST00000397992.5_Frame_Shift_Del_p.FPFYIP884fs	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	1798					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|muscle organ development (GO:0007517)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of myoblast differentiation (GO:0045663)|regulation of neuron differentiation (GO:0045664)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	enzyme binding (GO:0019899)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				CTCAGCACTGGGGATGTAGAAAGGGAAGAGGAGGTGC	0.576																																						ENST00000268489.5																			0				NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153						c.(5392-5409)cfs		zinc finger homeobox 3																																				SO:0001589	frameshift_variant	463				muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr16:72831173_72831189delGGGATGTAGAAAGGGAA	D10250	CCDS10908.1, CCDS54035.1	16q22.3	2012-03-09	2007-08-09	2007-08-09	ENSG00000140836	ENSG00000140836		"Zinc fingers, C2H2-type", "Homeoboxes / ZF class"	777	protein-coding gene	gene with protein product		104155	"AT-binding transcription factor 1"	ATBF1		1719379, 7592926	Standard	NM_006885		Approved	ZNF927	uc002fck.3	Q15911	OTTHUMG00000137599	ENST00000268489.5:c.5392_5408delTTCCCTTTCTACATCCC	16.37:g.72831173_72831189delGGGATGTAGAAAGGGAA	ENSP00000268489:p.Phe1798fs					ZFHX3_ENST00000397992.5_Frame_Shift_Del_p.FPFYIP884fs	p.FPFYIP1798fs	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN			9	6064_6080	-		Ovarian(137;0.13)	1798					D3DWS8|O15101|Q13719	Frame_Shift_Del	DEL	ENST00000268489.5	37	c.5392_5408delTTCCCTTTCTACATCCC	CCDS10908.1																																																																																				0.576	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269008.1	NM_006885		20	37						20	37	---	---	---	---	-	72831189	GGGATGTAGAAAGGGAA	-	72831173	7	5	5	1	0	1	0	1	0	0	0	0	17631	1232	43	0	5711	0	ZFHX3	16	72831173	Frame_Shift_Del	DEL	GGGATGTAGAAAGGGAA	TCGA-2A-A8VX-01A-11D-A377-08	1419599	72831173	17523580	32	183											
MLX	6945	broad.mit.edu	37	chr17	40723602	40723602	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gattggcgtcctgcaccaatTgaaaaaccagctttactgac	12	10	8	11	1	0	2	0	2	0	0	1	3	1	2	3	1	4	2	3	1	4	4			TCGA-2A-A8VX-01A-11D-A377-08	TCGA-2A-A8VX-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	957baedd-a3e5-4cc3-84bc-d96a98047c96	53b1cab7-43d1-4643-ac22-c93696c913ee	g.chr17:40723602T>G	ENST00000246912.4	+	8	931	c.878T>G	c.(877-879)tTg>tGg	p.L293W	MLX_ENST00000346833.4_Missense_Mutation_p.L209W|MLX_ENST00000435881.2_Missense_Mutation_p.L239W	NM_170607.2	NP_733752.1	Q9UH92	MLX_HUMAN	MLX, MAX dimerization protein	293					energy reserve metabolic process (GO:0006112)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleocytoplasmic transport (GO:0006913)|positive regulation of cellular metabolic process (GO:0031325)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			kidney(3)|large_intestine(4)|lung(1)|ovary(1)|urinary_tract(1)	10		all_cancers(22;4.26e-05)|Breast(137;0.000153)|all_epithelial(22;0.00148)		BRCA - Breast invasive adenocarcinoma(366;0.129)		CTGCACCAATTGAAAAACCAG	0.532																																					GBM(121;657 1601 4665 24731 34640)	ENST00000246912.4																			0				kidney(3)|large_intestine(4)|lung(1)|ovary(1)|urinary_tract(1)	10						c.(877-879)tTg>tGg		MLX, MAX dimerization protein							185	176	179					17																	40723602		2203	4300	6503	SO:0001583	missense	6945				energy reserve metabolic process|negative regulation of transcription, DNA-dependent|positive regulation of cellular metabolic process	cytoplasm|nucleus	DNA binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding	g.chr17:40723602T>G	AF213668	CCDS11430.1, CCDS42341.1, CCDS45687.1	17q21.1	2013-05-21	2012-11-15	2005-02-11		ENSG00000108788		"MAX dimerization proteins", "Basic helix-loop-helix proteins"	11645	protein-coding gene	gene with protein product		602976	"transcription factor-like 4", "MAX-like protein X"	TCFL4		8973301	Standard	NM_170607		Approved	MAD7, MXD7, bHLHd13	uc002iag.3	Q9UH92		ENST00000246912.4:c.878T>G	17.37:g.40723602T>G	ENSP00000246912:p.Leu293Trp					MLX_ENST00000346833.4_Missense_Mutation_p.L209W|MLX_ENST00000435881.2_Missense_Mutation_p.L239W	p.L293W	NM_170607.2	NP_733752.1	Q9UH92	MLX_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.129)	8	931	+		all_cancers(22;4.26e-05)|Breast(137;0.000153)|all_epithelial(22;0.00148)	293					A8K2J3|B2RAV8|B2RD73|Q53XM6|Q96FL2|Q9H2V0|Q9H2V1|Q9H2V2|Q9NXN3	Missense_Mutation	SNP	ENST00000246912.4	37	c.878T>G	CCDS11430.1	.	.	.	.	.	.	.	.	.	.	T	26.6	4.750342	0.89753	.	.	ENSG00000108788	ENST00000346833;ENST00000246912;ENST00000435881	D;D;D	0.85484	-1.71;-1.99;-1.67	5.15	5.15	0.70609	.	0.229453	0.36778	N	0.002419	D	0.90559	0.7041	M	0.64997	1.995	0.58432	D	0.99999	D;D;D	0.67145	0.994;0.996;0.996	D;D;D	0.69307	0.924;0.944;0.963	D	0.91645	0.5330	10	0.87932	D	0	-9.2426	15.1342	0.72549	0.0:0.0:0.0:1.0	.	209;293;239	Q9UH92-2;Q9UH92;Q9UH92-3	.;MLX_HUMAN;.	W	209;293;239	ENSP00000320913:L209W;ENSP00000246912:L293W;ENSP00000416627:L239W	ENSP00000246912:L293W	L	+	2	0	MLX	37977128	1.000000	0.71417	0.918000	0.36340	0.989000	0.77384	7.003000	0.76310	2.169000	0.68431	0.460000	0.39030	TTG		0.532	MLX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000450415.1	NM_170607		18	120	0	0	0	1	0	18	120					G	40723602	T	G	40723602	3	3	5	1	0	0	0	0	1	0	0	0	9635	1821	63	5	908	5	MLX	17	40723602	Missense_Mutation	SNP	T	TCGA-2A-A8VX-01A-11D-A377-08		40723602	40471608	33	184											
CACNG5	27091	broad.mit.edu	37	chr17	64876773	64876773	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acacatccgtccccaccggaCgatactggcctttgtctctg	7	10	8	16	3	1	0	0	0	1	0	4	2	3	1	5	2	1	0	5	2	1	2	rs149159754		TCGA-2A-A8VX-01A-11D-A377-08	TCGA-2A-A8VX-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	957baedd-a3e5-4cc3-84bc-d96a98047c96	53b1cab7-43d1-4643-ac22-c93696c913ee	g.chr17:64876773C>T	ENST00000533854.1	+	4	620	c.383C>T	c.(382-384)aCg>aTg	p.T128M	CACNG5_ENST00000307139.3_Missense_Mutation_p.T128M|CACNG5_ENST00000169565.3_Missense_Mutation_p.T128M			Q9UF02	CCG5_HUMAN	calcium channel, voltage-dependent, gamma subunit 5	128					regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|transport (GO:0006810)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	ion transmembrane transporter activity (GO:0015075)|voltage-gated calcium channel activity (GO:0005245)			NS(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2)	24			BRCA - Breast invasive adenocarcinoma(6;1.61e-08)			CCCCACCGGACGATACTGGCC	0.448																																						ENST00000533854.1																			0				NS(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2)	24						c.(382-384)aCg>aTg		calcium channel, voltage-dependent, gamma subunit 5		C	MET/THR	0,4406		0,0,2203	269	227	241		383	3.7	0.9	17	dbSNP_134	241	7,8593	5.7+/-21.5	0,7,4293	no	missense	CACNG5	NM_145811.2	81	0,7,6496	TT,TC,CC		0.0814,0.0,0.0538	probably-damaging	128/276	64876773	7,12999	2203	4300	6503	SO:0001583	missense	27091				regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|postsynaptic density|postsynaptic membrane	voltage-gated calcium channel activity	g.chr17:64876773C>T	AF148220	CCDS11665.1	17q24	2004-02-16				ENSG00000075429		"Calcium channel subunits"	1409	protein-coding gene	gene with protein product		606405				10613843	Standard	NM_145811		Approved		uc010wqj.2	Q9UF02		ENST00000533854.1:c.383C>T	17.37:g.64876773C>T	ENSP00000436836:p.Thr128Met					CACNG5_ENST00000169565.3_Missense_Mutation_p.T128M|CACNG5_ENST00000307139.3_Missense_Mutation_p.T128M	p.T128M			Q9UF02	CCG5_HUMAN	BRCA - Breast invasive adenocarcinoma(6;1.61e-08)		4	620	+			128					A8K2A6|Q547R3|Q8WXS7|Q9UHM3	Missense_Mutation	SNP	ENST00000533854.1	37	c.383C>T	CCDS11665.1	.	.	.	.	.	.	.	.	.	.	C	18.10	3.549512	0.65311	0.0	8.14E-4	ENSG00000075429	ENST00000533854;ENST00000307139;ENST00000169565	D;D;D	0.88896	-2.44;-2.44;-2.44	3.67	3.67	0.42095	.	0.067062	0.64402	D	0.000016	D	0.91147	0.7212	L	0.61036	1.89	0.58432	D	0.999996	D	0.65815	0.995	P	0.56823	0.807	D	0.90145	0.4216	10	0.32370	T	0.25	-1.0987	15.2223	0.73320	0.0:1.0:0.0:0.0	.	128	Q9UF02	CCG5_HUMAN	M	128	ENSP00000436836:T128M;ENSP00000303092:T128M;ENSP00000169565:T128M	ENSP00000169565:T128M	T	+	2	0	CACNG5	62307235	1.000000	0.71417	0.912000	0.35992	0.924000	0.55760	7.394000	0.79862	1.966000	0.57179	0.591000	0.81541	ACG		0.448	CACNG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389882.1	NM_014404, NM_145811		5	158	0	0	0	1	0	5	158					T	64876773	C	T	64876773	3	4	5	1	0	0	0	0	1	0	0	0	2560	536	19	1	393	1	CACNG5	17	64876773	Missense_Mutation	SNP	C	TCGA-2A-A8VX-01A-11D-A377-08	24153171	64876773	16318437	34	185											
FHOD3	80206	broad.mit.edu	37	chr18	34081915	34081915	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaaaactatacaactccagcGgacgagatttgagaagggcc	16	6	10	9	2	0	2	0	1	0	2	1	5	1	3	2	2	4	0	2	2	6	3	rs371092594		TCGA-2A-A8VX-01A-11D-A377-08	TCGA-2A-A8VX-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	957baedd-a3e5-4cc3-84bc-d96a98047c96	53b1cab7-43d1-4643-ac22-c93696c913ee	g.chr18:34081915G>A	ENST00000359247.4	+	4	358	c.358G>A	c.(358-360)Gga>Aga	p.G120R	FHOD3_ENST00000257209.4_Missense_Mutation_p.G120R|FHOD3_ENST00000590592.1_Missense_Mutation_p.G120R|FHOD3_ENST00000445677.1_Missense_Mutation_p.G120R	NM_001281739.1	NP_001268668.1	Q2V2M9	FHOD3_HUMAN	formin homology 2 domain containing 3	120	GBD/FH3. {ECO:0000255|PROSITE- ProRule:PRU00579}.				actin filament network formation (GO:0051639)|cardiac myofibril assembly (GO:0055003)|negative regulation of actin filament polymerization (GO:0030837)|sarcomere organization (GO:0045214)	striated muscle thin filament (GO:0005865)				NS(1)|breast(5)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|liver(2)|lung(29)|ovary(3)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	90		all_epithelial(2;0.0181)|Colorectal(2;0.0195)				CAACTCCAGCGGACGAGATTT	0.323																																						ENST00000257209.4																			0				NS(1)|breast(5)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|liver(2)|lung(29)|ovary(3)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	90						c.(358-360)Gga>Aga		formin homology 2 domain containing 3		G	ARG/GLY	0,4406		0,0,2203	28	28	28		358	5.4	1	18		28	1,8599		0,1,4299	no	missense	FHOD3	NM_025135.2	125	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	120/1440	34081915	1,13005	2203	4300	6503	SO:0001583	missense	80206				actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding	g.chr18:34081915G>A	AK091899	CCDS32816.1, CCDS62418.1, CCDS62419.1	18q12	2007-08-02				ENSG00000134775			26178	protein-coding gene	gene with protein product		609691				11214970	Standard	NM_025135		Approved	FHOS2, KIAA1695, FLJ22297, FLJ22717	uc021uiv.1	Q2V2M9		ENST00000359247.4:c.358G>A	18.37:g.34081915G>A	ENSP00000352186:p.Gly120Arg					FHOD3_ENST00000590592.1_Missense_Mutation_p.G120R|FHOD3_ENST00000445677.1_Missense_Mutation_p.G120R|FHOD3_ENST00000359247.4_Missense_Mutation_p.G120R	p.G120R	NM_025135.2	NP_079411.2	Q2V2M9	FHOD3_HUMAN			4	480	+		all_epithelial(2;0.0181)|Colorectal(2;0.0195)	120			GBD/FH3.		A8MQT4|E5F5Q0|Q642I2|Q6ZRQ7|Q86TF9|Q8N3A5|Q9C0G8|Q9H604|Q9H6G7	Missense_Mutation	SNP	ENST00000359247.4	37	c.358G>A		.	.	.	.	.	.	.	.	.	.	G	19.14	3.769874	0.69992	0.0	1.16E-4	ENSG00000134775	ENST00000257209;ENST00000359247;ENST00000445677	T;T;T	0.25250	1.81;1.81;1.81	5.45	5.45	0.79879	GTPase-binding/formin homology 3 (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.118293	0.56097	D	0.000026	T	0.56093	0.1962	M	0.82823	2.61	0.41244	D	0.986663	D;D;D	0.89917	1.0;1.0;0.999	D;D;P	0.91635	0.997;0.999;0.904	T	0.61491	-0.7052	10	0.87932	D	0	.	17.1316	0.86728	0.0:0.0:1.0:0.0	.	120;120;120	Q2V2M9;Q2V2M9-3;E5F5Q0	FHOD3_HUMAN;.;.	R	120	ENSP00000257209:G120R;ENSP00000352186:G120R;ENSP00000411430:G120R	ENSP00000257209:G120R	G	+	1	0	FHOD3	32335913	1.000000	0.71417	0.995000	0.50966	0.556000	0.35491	7.980000	0.88113	2.713000	0.92767	0.655000	0.94253	GGA		0.323	FHOD3-001	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460884.1	XM_371114		14	23	0	0	0	1	0	14	23					A	34081915	G	A	34081915	3	1	5	1	0	0	0	0	1	0	0	0	5883	1117	39	2	372	2	FHOD3	18	34081915	Missense_Mutation	SNP	G	TCGA-2A-A8VX-01A-11D-A377-08		34081915	43995333	35	186											
SERPINB10	5273	broad.mit.edu	37	chr18	61585257	61585257	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttccaaacacttatctcagAaatcctcaagcccaacgatg	14	10	4	13	1	2	1	2	0	1	1	5	2	4	1	3	0	3	0	3	0	5	2			TCGA-2A-A8VX-01A-11D-A377-08	TCGA-2A-A8VX-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	957baedd-a3e5-4cc3-84bc-d96a98047c96	53b1cab7-43d1-4643-ac22-c93696c913ee	g.chr18:61585257A>G	ENST00000238508.3	+	4	352	c.293A>G	c.(292-294)gAa>gGa	p.E98G		NM_005024.1	NP_005015.1	P48595	SPB10_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 10	98					negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleus (GO:0005634)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)|skin(3)|stomach(2)	24		Esophageal squamous(42;0.131)				CTTATCTCAGAAATCCTCAAG	0.348																																						ENST00000238508.3																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)|skin(3)|stomach(2)	24						c.(292-294)gAa>gGa		serpin peptidase inhibitor, clade B (ovalbumin), member 10							93	87	89					18																	61585257		2202	4300	6502	SO:0001583	missense	5273							g.chr18:61585257A>G	U35459	CCDS11990.1	18q21.3	2014-02-18	2005-08-18		ENSG00000242550	ENSG00000242550		"Serine (or cysteine) peptidase inhibitors"	8942	protein-coding gene	gene with protein product	"protease inhibitor 10 (ovalbumin type, bomapin)"	602058	"serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 10"	PI10		9268635, 10871600, 24172014	Standard	NM_005024		Approved	bomapin		P48595	OTTHUMG00000060594	ENST00000238508.3:c.293A>G	18.37:g.61585257A>G	ENSP00000238508:p.Glu98Gly						p.E98G	NM_005024.1	NP_005015.1					4	352	+		Esophageal squamous(42;0.131)						Q4VAX4|Q4VAX7	Missense_Mutation	SNP	ENST00000238508.3	37	c.293A>G	CCDS11990.1	.	.	.	.	.	.	.	.	.	.	A	17.87	3.494276	0.64186	.	.	ENSG00000242550	ENST00000238508	D	0.84873	-1.91	5.82	5.82	0.92795	Serpin domain (3);	0.112392	0.64402	D	0.000011	D	0.91161	0.7216	M	0.73962	2.25	0.44871	D	0.997889	D	0.63880	0.993	D	0.65323	0.934	D	0.92010	0.5617	10	0.72032	D	0.01	.	14.1425	0.65329	1.0:0.0:0.0:0.0	.	98	P48595	SPB10_HUMAN	G	98	ENSP00000238508:E98G	ENSP00000238508:E98G	E	+	2	0	SERPINB10	59736237	0.993000	0.37304	0.954000	0.39281	0.405000	0.30901	1.494000	0.35616	2.231000	0.72958	0.528000	0.53228	GAA		0.348	SERPINB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000134012.3	NM_005024		22	42	0	0	0	1	0	22	42					G	61585257	A	G	61585257	3	3	5	1	0	0	0	0	1	0	0	0	14097	246	9	4	303	4	SERPINB10	18	61585257	Missense_Mutation	SNP	A	TCGA-2A-A8VX-01A-11D-A377-08	27503342	61585257	16491991	36	187											
SIRPA	140885	broad.mit.edu	37	chr20	1895812	1895812	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgttggttgcagctggagaGacagccactctgcgctgcac	7	9	14	11	1	1	1	0	0	1	1	1	3	1	2	1	2	5	6	1	2	0	2			TCGA-2A-A8VX-01A-11D-A377-08	TCGA-2A-A8VX-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	957baedd-a3e5-4cc3-84bc-d96a98047c96	53b1cab7-43d1-4643-ac22-c93696c913ee	g.chr20:1895812G>T	ENST00000358771.4	+	2	299	c.147G>T	c.(145-147)gaG>gaT	p.E49D	SIRPA_ENST00000400068.3_Missense_Mutation_p.E49D|SIRPA_ENST00000356025.3_Missense_Mutation_p.E49D	NM_001040023.1	NP_001035112.1	P78324	SHPS1_HUMAN	signal-regulatory protein alpha	49	Ig-like V-type.				blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|leukocyte migration (GO:0050900)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)				cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	21				Colorectal(46;0.018)|READ - Rectum adenocarcinoma(1;0.0556)		CAGCTGGAGAGACAGCCACTC	0.552																																					GBM(155;1668 1920 5945 42733 48121)	ENST00000358771.4																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	21						c.(145-147)gaG>gaT		signal-regulatory protein alpha							53	48	50					20																	1895812		2087	3968	6055	SO:0001583	missense	140885				blood coagulation|cell adhesion|cell junction assembly|leukocyte migration	integral to membrane|plasma membrane	SH3 domain binding	g.chr20:1895812G>T	D86043	CCDS13022.1	20p13	2013-01-11	2006-03-29	2006-03-29	ENSG00000198053	ENSG00000198053		"Signal-regulatory proteins", "CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C1-set domain containing"	9662	protein-coding gene	gene with protein product		602461	"protein tyrosine phosphatase, non-receptor type substrate 1"	PTPNS1		9070220, 9062191, 16339511	Standard	XM_005260669		Approved	SHPS1, SIRP, MYD-1, BIT, P84, SHPS-1, SIRPalpha, CD172a, SIRPalpha2, MFR, SIRP-ALPHA-1	uc002wfr.3	P78324	OTTHUMG00000031682	ENST00000358771.4:c.147G>T	20.37:g.1895812G>T	ENSP00000351621:p.Glu49Asp					SIRPA_ENST00000356025.3_Missense_Mutation_p.E49D|SIRPA_ENST00000400068.3_Missense_Mutation_p.E49D	p.E49D	NM_001040023.1	NP_001035112.1	P78324	SHPS1_HUMAN		Colorectal(46;0.018)|READ - Rectum adenocarcinoma(1;0.0556)	2	299	+			49			Ig-like V-type.		A2A2E1|A8K411|B2R6C3|O00683|O43799|Q8N517|Q8TAL8|Q9H0Z2|Q9UDX2|Q9UIJ6|Q9Y4U9	Missense_Mutation	SNP	ENST00000358771.4	37	c.147G>T	CCDS13022.1	.	.	.	.	.	.	.	.	.	.	G	3.272	-0.148858	0.06627	.	.	ENSG00000198053	ENST00000400068;ENST00000356025;ENST00000358771	T;T;T	0.02369	4.32;4.32;4.32	5.11	1.97	0.26223	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.547303	0.17609	N	0.168157	T	0.02888	0.0086	L	0.53617	1.68	0.20196	N	0.999924	B;B;B	0.12013	0.0;0.005;0.0	B;B;B	0.11329	0.006;0.005;0.004	T	0.45469	-0.9259	10	0.22109	T	0.4	.	3.25	0.06811	0.0947:0.1669:0.5517:0.1866	.	29;49;49	B4DP97;P78324-2;P78324	.;.;SHPS1_HUMAN	D	49	ENSP00000382941:E49D;ENSP00000348307:E49D;ENSP00000351621:E49D	ENSP00000348307:E49D	E	+	3	2	SIRPA	1843812	0.032000	0.19561	0.660000	0.29694	0.050000	0.14768	0.045000	0.14013	0.285000	0.22329	0.555000	0.69702	GAG		0.552	SIRPA-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000077568.2	NM_080792		15	22	1	0	1.3612e-06	1	1.42452e-06	15	22					T	1895812	G	T	1895812	3	4	5	1	0	0	0	0	1	0	0	0	14332	933	33	5	153	5	SIRPA	20	1895812	Missense_Mutation	SNP	G	TCGA-2A-A8VX-01A-11D-A377-08		1895812	61129708	37	188											
MYLK2	85366	broad.mit.edu	37	chr20	30409489	30409489	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cctcagagaaatccgaggtgGggcaggccctctgtctcaca	9	7	12	13	1	3	1	2	0	2	1	5	3	4	1	3	4	0	1	3	4	1	0			TCGA-2A-A8VX-01A-11D-A377-08	TCGA-2A-A8VX-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	957baedd-a3e5-4cc3-84bc-d96a98047c96	53b1cab7-43d1-4643-ac22-c93696c913ee	g.chr20:30409489G>A	ENST00000375994.2	+	3	994	c.721G>A	c.(721-723)Ggg>Agg	p.G241R	MYLK2_ENST00000375985.4_Missense_Mutation_p.G241R			Q9H1R3	MYLK2_HUMAN	myosin light chain kinase 2	241					cardiac muscle contraction (GO:0060048)|cardiac muscle tissue morphogenesis (GO:0055008)|neuromuscular synaptic transmission (GO:0007274)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of gene expression (GO:0010628)|protein autophosphorylation (GO:0046777)|regulation of muscle filament sliding (GO:0032971)|skeletal muscle cell differentiation (GO:0035914)|skeletal muscle satellite cell differentiation (GO:0014816)|striated muscle contraction (GO:0006941)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|calmodulin-dependent protein kinase activity (GO:0004683)|myosin light chain kinase activity (GO:0004687)			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	33			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			ATCCGAGGTGGGGCAGGCCCT	0.652																																						ENST00000375994.2																			0				NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	33						c.(721-723)Ggg>Agg		myosin light chain kinase 2							80	90	87					20																	30409489		2203	4300	6503	SO:0001583	missense	85366				cardiac muscle tissue morphogenesis|regulation of muscle filament sliding		ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity	g.chr20:30409489G>A	AF325549	CCDS13191.1	20q13.31	2014-09-17	2008-01-23		ENSG00000101306	ENSG00000101306	2.7.11.18		16243	protein-coding gene	gene with protein product	"skeletal muscle myosin light chain kinase"	606566	"myosin light chain kinase 2, skeletal muscle"				Standard	NM_033118		Approved	skMLCK, KMLC, MLCK2	uc002wwq.2	Q9H1R3	OTTHUMG00000032194	ENST00000375994.2:c.721G>A	20.37:g.30409489G>A	ENSP00000365162:p.Gly241Arg					MYLK2_ENST00000375985.4_Missense_Mutation_p.G241R	p.G241R			Q9H1R3	MYLK2_HUMAN	Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)		3	994	+			241					Q569L1|Q96I84	Missense_Mutation	SNP	ENST00000375994.2	37	c.721G>A	CCDS13191.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.238441	0.79800	.	.	ENSG00000101306	ENST00000375994;ENST00000375985	T;T	0.67698	-0.28;-0.28	4.82	4.82	0.62117	.	.	.	.	.	T	0.61776	0.2374	M	0.63428	1.95	0.37130	D	0.90123	P	0.45902	0.868	B	0.40285	0.325	T	0.65240	-0.6216	9	0.21014	T	0.42	.	13.2661	0.60135	0.0:0.0:1.0:0.0	.	241	Q9H1R3	MYLK2_HUMAN	R	241	ENSP00000365162:G241R;ENSP00000365152:G241R	ENSP00000365152:G241R	G	+	1	0	MYLK2	29873150	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	2.855000	0.48333	2.516000	0.84829	0.561000	0.74099	GGG		0.652	MYLK2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078583.2	NM_033118		45	59	0	0	0	1	0	45	59					A	30409489	G	A	30409489	3	1	5	1	0	0	0	0	1	0	0	0	10057	1232	43	3	731	3	MYLK2	20	30409489	Missense_Mutation	SNP	G	TCGA-2A-A8VX-01A-11D-A377-08	28513677	30409489	32616031	38	189											
OR10J5	127385	broad.mit.edu	37	chr1	159505586	159505586	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caatgaccagtgtgtacaccGtctctgaactagccagcatg	11	9	9	12	1	1	2	0	2	1	0	2	2	1	2	3	0	4	2	3	0	4	2	rs143883325	byFrequency	TCGA-2A-A8W1-01A-11D-A377-08	TCGA-2A-A8W1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaee15be-7d62-47c8-bd51-6468b83855e4	1b8d7af8-3100-4f69-9f2c-4916afd1298b	g.chr1:159505586G>A	ENST00000334857.2	-	1	256	c.212C>T	c.(211-213)aCg>aTg	p.T71M		NM_001004469.1	NP_001004469.1	Q8NHC4	O10J5_HUMAN	olfactory receptor, family 10, subfamily J, member 5	71						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	22	all_hematologic(112;0.0429)					TGTGTACACCGTCTCTGAACT	0.433													G|||	3	0.000599042	8e-04	0.0014	5008	,	,		22856	0.001		0	False		,,,				2504	0					ENST00000334857.2																			0				kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	22						c.(211-213)aCg>aTg		olfactory receptor, family 10, subfamily J, member 5		G	MET/THR	2,4404	4.2+/-10.8	0,2,2201	169	136	147		212	-0.1	0	1	dbSNP_134	147	3,8597	3.7+/-12.6	0,3,4297	yes	missense	OR10J5	NM_001004469.1	81	0,5,6498	AA,AG,GG		0.0349,0.0454,0.0384	probably-damaging	71/310	159505586	5,13001	2203	4300	6503	SO:0001583	missense	127385				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:159505586G>A		CCDS30910.1	1q23.2	2012-08-09			ENSG00000184155	ENSG00000184155		"GPCR / Class A : Olfactory receptors"	14993	protein-coding gene	gene with protein product							Standard	NM_001004469		Approved		uc010piw.2	Q8NHC4	OTTHUMG00000022738	ENST00000334857.2:c.212C>T	1.37:g.159505586G>A	ENSP00000334441:p.Thr71Met						p.T71M	NM_001004469.1	NP_001004469.1	Q8NHC4	O10J5_HUMAN			1	256	-	all_hematologic(112;0.0429)		71					B9EH35|Q6IFH2	Missense_Mutation	SNP	ENST00000334857.2	37	c.212C>T	CCDS30910.1	2	9.157509157509158E-4	0	0.0	1	0.0027624309392265192	1	0.0017482517482517483	0	0.0	G	5.325	0.245370	0.10077	4.54E-4	3.49E-4	ENSG00000184155	ENST00000334857	T	0.02890	4.12	4.11	-0.0644	0.13772	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.02304	0.0071	L	0.36672	1.1	0.09310	N	1	D	0.89917	1.0	D	0.73708	0.981	T	0.45366	-0.9266	9	0.36615	T	0.2	.	5.8296	0.18572	0.346:0.1365:0.5175:0.0	.	71	Q8NHC4	O10J5_HUMAN	M	71	ENSP00000334441:T71M	ENSP00000334441:T71M	T	-	2	0	OR10J5	157772210	0.008000	0.16893	0.002000	0.10522	0.022000	0.10575	2.204000	0.42761	-0.342000	0.08363	-2.687000	0.00140	ACG		0.433	OR10J5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059021.1	NM_001004469		49	48	0	0	0	1	0	49	48					A	159505586	G	A	159505586	3	1	6	1	0	0	0	0	1	0	0	0	10912	1145	40	1	719	1	OR10J5	1	159505586	Missense_Mutation	SNP	G	TCGA-2A-A8W1-01A-11D-A377-08		159505586	89745035	1	190											
UCK2	7371	broad.mit.edu	37	chr1	165872475	165872475	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcagattttatctcagtacAttacgttcgtcaagcctgcc	10	13	7	11	2	2	1	2	0	1	1	4	1	2	1	2	0	5	3	2	0	4	5			TCGA-2A-A8W1-01A-11D-A377-08	TCGA-2A-A8W1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaee15be-7d62-47c8-bd51-6468b83855e4	1b8d7af8-3100-4f69-9f2c-4916afd1298b	g.chr1:165872475A>C	ENST00000367879.4	+	5	859	c.556A>C	c.(556-558)Att>Ctt	p.I186L	UCK2_ENST00000372212.4_3'UTR|UCK2_ENST00000469256.2_Missense_Mutation_p.I36L|RP11-525G13.2_ENST00000455257.2_RNA|UCK2_ENST00000470820.1_Missense_Mutation_p.I36L|UCK2_ENST00000462329.1_3'UTR	NM_012474.4	NP_036606.2	Q9BZX2	UCK2_HUMAN	uridine-cytidine kinase 2	186					cellular response to oxygen levels (GO:0071453)|CTP salvage (GO:0044211)|feeding behavior (GO:0007631)|nucleobase-containing small molecule metabolic process (GO:0055086)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside salvage (GO:0043097)|response to axon injury (GO:0048678)|small molecule metabolic process (GO:0044281)|UMP salvage (GO:0044206)	cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)	ATP binding (GO:0005524)|nucleoside kinase activity (GO:0019206)|uridine kinase activity (GO:0004849)			breast(1)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	10	all_hematologic(923;0.048)|Acute lymphoblastic leukemia(8;0.155)					ATCTCAGTACATTACGTTCGT	0.388																																						ENST00000367879.4																			0				breast(1)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	10						c.(556-558)Att>Ctt		uridine-cytidine kinase 2							255	219	231					1																	165872475		2203	4300	6503	SO:0001583	missense	7371				pyrimidine base metabolic process|pyrimidine nucleoside salvage	cytosol	ATP binding|phosphotransferase activity, alcohol group as acceptor|uridine kinase activity	g.chr1:165872475A>C	AF236637	CCDS1252.1	1p32	2012-10-02	2004-07-13	2004-07-14	ENSG00000143179	ENSG00000143179	2.7.1.48		12562	protein-coding gene	gene with protein product		609329	"uridine monophosphate kinase"	UMPK			Standard	NM_012474		Approved		uc001gdp.3	Q9BZX2	OTTHUMG00000040117	ENST00000367879.4:c.556A>C	1.37:g.165872475A>C	ENSP00000356853:p.Ile186Leu					UCK2_ENST00000479872.1_3'UTR|UCK2_ENST00000372212.4_3'UTR	p.I186L	NM_012474.4	NP_036606.2	Q9BZX2	UCK2_HUMAN			5	859	+	all_hematologic(923;0.048)|Acute lymphoblastic leukemia(8;0.155)		186					Q5VV91|Q7KZV3|Q92528|Q96KG5|Q9BU42	Missense_Mutation	SNP	ENST00000367879.4	37	c.556A>C	CCDS1252.1	.	.	.	.	.	.	.	.	.	.	A	16.62	3.173058	0.57584	.	.	ENSG00000143179	ENST00000367879	.	.	.	4.83	4.83	0.62350	Phosphoribulokinase/uridine kinase (1);	0.047721	0.85682	D	0.000000	T	0.04679	0.0127	N	0.00387	-1.565	0.50632	D	0.999884	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.002	T	0.22312	-1.0220	8	0.14656	T	0.56	-10.3876	12.4166	0.55496	1.0:0.0:0.0:0.0	.	36;186	Q9BZX2-2;Q9BZX2	.;UCK2_HUMAN	L	186	.	ENSP00000356853:I186L	I	+	1	0	UCK2	164139099	1.000000	0.71417	0.962000	0.40283	0.895000	0.52256	8.839000	0.92120	2.032000	0.59987	0.533000	0.62120	ATT		0.388	UCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096753.1	NM_012474		6	172	0	0	0	1	0	6	172					C	165872475	A	C	165872475	3	2	6	1	0	0	0	0	1	0	0	0	16921	217	8	5	574	5	UCK2	1	165872475	Missense_Mutation	SNP	A	TCGA-2A-A8W1-01A-11D-A377-08	6366889	165872475	83378146	2	191											
HMCN1	83872	broad.mit.edu	37	chr1	185880806	185880806	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ctttatgttctgtctttcagGgaagctgataaaaaagggat	12	14	10	5	0	3	1	1	1	2	0	3	3	3	3	0	2	1	2	0	2	5	5			TCGA-2A-A8W1-01A-11D-A377-08	TCGA-2A-A8W1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaee15be-7d62-47c8-bd51-6468b83855e4	1b8d7af8-3100-4f69-9f2c-4916afd1298b	g.chr1:185880806G>A	ENST00000271588.4	+	6	1023	c.794G>A	c.(793-795)gGg>gAg	p.G265E	HMCN1_ENST00000367492.2_Splice_Site_p.G265E	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	265					response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						TGTCTTTCAGGGAAGCTGATA	0.373																																						ENST00000271588.4																			0				NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						c.e6-1		hemicentin 1							213	225	221					1																	185880806		2203	4300	6503	SO:0001630	splice_region_variant	83872				response to stimulus|visual perception	basement membrane	calcium ion binding	g.chr1:185880806G>A	AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"Fibulins", "Immunoglobulin superfamily / I-set domain containing"	19194	protein-coding gene	gene with protein product	"fibulin 6"	608548	"age-related macular degeneration 1 (senile macular degeneration)"	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.794-1G>A	1.37:g.185880806G>A						HMCN1_ENST00000367492.2_Splice_Site_p.G265_splice	p.G265_splice	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN			6	1023	+			265					A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Splice_Site	SNP	ENST00000271588.4	37	c.793_splice	CCDS30956.1	.	.	.	.	.	.	.	.	.	.	G	26.8	4.771416	0.90108	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	T;T	0.73152	-0.71;-0.72	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	D	0.84669	0.5523	M	0.76170	2.325	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.83578	0.0116	9	.	.	.	.	20.0429	0.97598	0.0:0.0:1.0:0.0	.	265	Q96RW7	HMCN1_HUMAN	E	265	ENSP00000271588:G265E;ENSP00000356462:G265E	.	G	+	2	0	HMCN1	184147429	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	8.828000	0.92047	2.812000	0.96745	0.555000	0.69702	GGG		0.373	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935	Missense_Mutation	42	64	0	0	0	1	0	42	64					A	185880806	G	A	185880806	5	1	6	1	0	0	0	0	0	0	1	0	7220	1246	43	3	816	3	HMCN1	1	185880806	Splice_Site	SNP	G	TCGA-2A-A8W1-01A-11D-A377-08	20008331	185880806	63369815	3	192											
MIA3	375056	broad.mit.edu	37	chr1	222833531	222833531	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atctttaggtcctctgagccAgaatggctcttttggcccat	7	14	9	11	0	3	2	0	1	3	1	4	2	4	2	3	3	1	1	3	3	2	4			TCGA-2A-A8W1-01A-11D-A377-08	TCGA-2A-A8W1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaee15be-7d62-47c8-bd51-6468b83855e4	1b8d7af8-3100-4f69-9f2c-4916afd1298b	g.chr1:222833531A>G	ENST00000344922.5	+	24	5013	c.4988A>G	c.(4987-4989)cAg>cGg	p.Q1663R	RP11-378J18.8_ENST00000608771.1_RNA|MIA3_ENST00000340535.7_Missense_Mutation_p.Q541R|MIA3_ENST00000344507.1_Intron|MIA3_ENST00000344441.6_Missense_Mutation_p.Q1663R	NM_198551.2	NP_940953.2	Q5JRA6	MIA3_HUMAN	melanoma inhibitory activity family, member 3	1663	Pro-rich.				chondrocyte development (GO:0002063)|collagen fibril organization (GO:0030199)|exocytosis (GO:0006887)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell migration (GO:0030336)|positive regulation of bone mineralization (GO:0030501)|positive regulation of leukocyte migration (GO:0002687)|protein transport (GO:0015031)|wound healing (GO:0042060)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(5)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(15)|lung(37)|ovary(5)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|urinary_tract(1)	80				GBM - Glioblastoma multiforme(131;0.0199)		CCTCTGAGCCAGAATGGCTCT	0.468																																						ENST00000344922.5																			0				breast(5)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(15)|lung(37)|ovary(5)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|urinary_tract(1)	80						c.(4987-4989)cAg>cGg		melanoma inhibitory activity family, member 3							90	92	91					1																	222833531		1896	4116	6012	SO:0001583	missense	375056				exocytosis|negative regulation of cell adhesion|negative regulation of cell migration|positive regulation of leukocyte migration|protein transport|wound healing	endoplasmic reticulum membrane|integral to membrane	protein binding	g.chr1:222833531A>G		CCDS41470.1, CCDS73035.1	1p36.33	2012-12-13		2006-07-25	ENSG00000154305	ENSG00000154305			24008	protein-coding gene	gene with protein product	"C219 reactive peptide", "transport and golgi organization"	613455				15183315	Standard	XM_005273121		Approved	UNQ6077, FLJ39207, KIAA0268, TANGO	uc001hnl.3	Q5JRA6	OTTHUMG00000037543	ENST00000344922.5:c.4988A>G	1.37:g.222833531A>G	ENSP00000340900:p.Gln1663Arg					MIA3_ENST00000344441.6_Missense_Mutation_p.Q1663R|MIA3_ENST00000344507.1_Intron|MIA3_ENST00000340535.7_Missense_Mutation_p.Q541R	p.Q1663R	NM_198551.2	NP_940953.2	Q5JRA6	MIA3_HUMAN		GBM - Glioblastoma multiforme(131;0.0199)	24	5013	+			1663			Pro-rich.		A8K2S0|A8MT05|A8MT13|B7Z430|Q14083|Q3S4X3|Q5JRA5|Q5JRB0|Q5JRB1|Q5JRB2|Q6UVY8|Q86Y60|Q8N8M5|Q92580	Missense_Mutation	SNP	ENST00000344922.5	37	c.4988A>G	CCDS41470.1	.	.	.	.	.	.	.	.	.	.	A	10.39	1.337663	0.24253	.	.	ENSG00000154305	ENST00000344922;ENST00000344441;ENST00000320831;ENST00000340535;ENST00000284471	T;T;T	0.28895	1.59;1.59;1.59	6.08	4.96	0.65561	.	.	.	.	.	T	0.20170	0.0485	L	0.39397	1.21	0.27798	N	0.942598	B;B	0.26120	0.067;0.142	B;B	0.25140	0.058;0.047	T	0.23476	-1.0187	9	0.12766	T	0.61	.	3.4956	0.07654	0.6952:0.0:0.3048:0.0	.	541;1663	Q5JRA6-4;Q5JRA6	.;MIA3_HUMAN	R	1663;1663;1604;541;541	ENSP00000340900:Q1663R;ENSP00000340587:Q1663R;ENSP00000345866:Q541R	ENSP00000284471:Q541R	Q	+	2	0	MIA3	220900154	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.741000	0.47426	2.330000	0.79161	0.533000	0.62120	CAG		0.468	MIA3-001	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000091489.4	NM_198551		25	25	0	0	0	1	0	25	25					G	222833531	A	G	222833531	3	3	6	1	0	0	0	0	1	0	0	0	9565	188	7	4	5082	4	MIA3	1	222833531	Missense_Mutation	SNP	A	TCGA-2A-A8W1-01A-11D-A377-08	36952725	222833531	26417090	4	193											
FAM179A	165186	broad.mit.edu	37	chr2	29259409	29259409	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tttctgtttcttcaataggtCtttgatgctttcaccccaag	7	18	6	10	0	5	1	2	1	3	0	5	1	5	1	2	1	1	2	2	1	3	6	rs141848946	byFrequency	TCGA-2A-A8W1-01A-11D-A377-08	TCGA-2A-A8W1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaee15be-7d62-47c8-bd51-6468b83855e4	1b8d7af8-3100-4f69-9f2c-4916afd1298b	g.chr2:29259409C>G	ENST00000379558.4	+	18	2772	c.2421C>G	c.(2419-2421)gtC>gtG	p.V807V	FAM179A_ENST00000465300.1_3'UTR|FAM179A_ENST00000403861.2_Silent_p.V752V	NM_199280.2	NP_954974.2	Q6ZUX3	F179A_HUMAN	family with sequence similarity 179, member A	807										breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						TTCAATAGGTCTTTGATGCTT	0.557																																						ENST00000379558.4																			0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						c.(2419-2421)gtC>gtG		family with sequence similarity 179, member A							86	76	79					2																	29259409		2203	4300	6503	SO:0001819	synonymous_variant	165186						binding	g.chr2:29259409C>G	AK125239, AK125744	CCDS1769.2	2p23.2	2008-10-30			ENSG00000189350	ENSG00000189350			33715	protein-coding gene	gene with protein product						16344560	Standard	NM_199280		Approved	FLJ43249, LOC165186	uc010ezl.3	Q6ZUX3	OTTHUMG00000128432	ENST00000379558.4:c.2421C>G	2.37:g.29259409C>G						FAM179A_ENST00000403861.2_Silent_p.V752V|FAM179A_ENST00000465300.1_3'UTR	p.V807V	NM_199280.2	NP_954974.2	Q6ZUX3	F179A_HUMAN			18	2772	+			807					Q6ZUF5	Silent	SNP	ENST00000379558.4	37	c.2421C>G	CCDS1769.2																																																																																				0.557	FAM179A-003	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317848.4	NM_199280		16	25	0	0	0	1	0	16	25					G	29259409	C	G	29259409	2	3	6	1	0	0	0	0	0	0	0	1	5505	900	32	5		5	FAM179A	2	29259409	Silent	SNP	C	TCGA-2A-A8W1-01A-11D-A377-08		29259409	213939964	5	194											
IWS1	55677	broad.mit.edu	37	chr2	128263212	128263212	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tcagagtcgctgtccttttgCctgtgaagctcctcactttc	5	15	8	13	1	2	2	2	1	0	1	6	2	4	2	3	0	2	2	3	0	1	3			TCGA-2A-A8W1-01A-11D-A377-08	TCGA-2A-A8W1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaee15be-7d62-47c8-bd51-6468b83855e4	1b8d7af8-3100-4f69-9f2c-4916afd1298b	g.chr2:128263212C>T	ENST00000295321.4	-	3	526	c.267G>A	c.(265-267)agG>agA	p.R89R	IWS1_ENST00000486662.1_5'UTR|IWS1_ENST00000455721.2_Silent_p.R96R|AC010976.2_ENST00000599001.1_RNA	NM_017969.2	NP_060439.2	Q96ST2	IWS1_HUMAN	IWS1 homolog (S. cerevisiae)	89	Glu-rich.				mRNA processing (GO:0006397)|mRNA transport (GO:0051028)|regulation of histone H3-K36 trimethylation (GO:2001253)|regulation of histone H4 acetylation (GO:0090239)|regulation of mRNA export from nucleus (GO:0010793)|regulation of mRNA processing (GO:0050684)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)			cervix(1)|endometrium(2)|kidney(6)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	28	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0735)		TGTCCTTTTGCCTGTGAAGCT	0.493																																						ENST00000295321.4																			0				cervix(1)|endometrium(2)|kidney(6)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	28						c.(265-267)agG>agA		IWS1 homolog (S. cerevisiae)							165	165	165					2																	128263212		2203	4300	6503	SO:0001819	synonymous_variant	55677				transcription, DNA-dependent	nucleus	DNA binding	g.chr2:128263212C>T	AK000868	CCDS2146.1	2q14.3	2006-03-17			ENSG00000163166	ENSG00000163166			25467	protein-coding gene	gene with protein product							Standard	NM_017969		Approved	DKFZp761G0123, FLJ10006, FLJ14655, FLJ32319	uc002ton.2	Q96ST2	OTTHUMG00000131527	ENST00000295321.4:c.267G>A	2.37:g.128263212C>T						IWS1_ENST00000455721.2_Silent_p.R96R|IWS1_ENST00000486662.1_5'UTR|AC010976.2_ENST00000599001.1_RNA	p.R89R	NM_017969.2	NP_060439.2	Q96ST2	IWS1_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0735)	3	526	-	Colorectal(110;0.1)		89			Glu-rich.		Q2TB65|Q6P157|Q8N3E8|Q96MI7|Q9NV97|Q9NWH8	Silent	SNP	ENST00000295321.4	37	c.267G>A	CCDS2146.1																																																																																				0.493	IWS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254384.2	NM_017969		4	272	0	0	0	1	0	4	272					T	128263212	C	T	128263212	2	4	6	1	0	0	0	0	0	0	0	1	7931	738	26	3		3	IWS1	2	128263212	Silent	SNP	C	TCGA-2A-A8W1-01A-11D-A377-08	99003803	128263212	114936161	6	195											
LRP1B	53353	broad.mit.edu	37	chr2	141945999	141945999	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaatttcttaccctgctattGgatctactgctattgcttta	8	18	6	9	0	2	0	0	0	2	0	2	2	2	1	1	1	5	3	1	1	6	9	rs572771636		TCGA-2A-A8W1-01A-11D-A377-08	TCGA-2A-A8W1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaee15be-7d62-47c8-bd51-6468b83855e4	1b8d7af8-3100-4f69-9f2c-4916afd1298b	g.chr2:141945999G>C	ENST00000389484.3	-	7	1975	c.1004C>G	c.(1003-1005)cCa>cGa	p.P335R		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	335					protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CCCTGCTATTGGATCTACTGC	0.368										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	ENST00000389484.3																			0				NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606						c.(1003-1005)cCa>cGa		low density lipoprotein receptor-related protein 1B							79	76	77					2																	141945999		2203	4300	6503	SO:0001583	missense	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141945999G>C	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"Low density lipoprotein receptors"	6693	protein-coding gene	gene with protein product	"LRP-deleted in tumors"	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.1004C>G	2.37:g.141945999G>C	ENSP00000374135:p.Pro335Arg	TSP Lung(27;0.18)					p.P335R	NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)	7	1975	-		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)	335					Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	c.1004C>G	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	G	24.7	4.560313	0.86335	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	D	0.95518	-3.73	5.2	5.2	0.72013	Six-bladed beta-propeller, TolB-like (1);Growth factor, receptor (1);	0.000000	0.64402	U	0.000001	D	0.98473	0.9491	H	0.96015	3.755	0.58432	D	0.999999	D	0.69078	0.997	D	0.65874	0.939	D	0.99741	1.1015	10	0.87932	D	0	.	18.7278	0.91720	0.0:0.0:1.0:0.0	.	335	Q9NZR2	LRP1B_HUMAN	R	335;273	ENSP00000374135:P335R	ENSP00000374135:P335R	P	-	2	0	LRP1B	141662469	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	9.749000	0.98871	2.406000	0.81754	0.655000	0.94253	CCA		0.368	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		17	47	0	0	0	1	0	17	47					C	141945999	G	C	141945999	3	2	6	1	0	0	0	0	1	0	0	0	8955	1348	47	5	13135	5	LRP1B	2	141945999	Missense_Mutation	SNP	G	TCGA-2A-A8W1-01A-11D-A377-08	13682787	141945999	101253374	7	196											
FAP	2191	broad.mit.edu	37	chr2	163070543	163070543	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tagccactgcaaacatactcGttcatcagtaacccacgtga	13	9	6	13	2	2	1	2	1	0	0	3	1	2	1	2	0	5	3	2	0	4	4	rs143208145		TCGA-2A-A8W1-01A-11D-A377-08	TCGA-2A-A8W1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaee15be-7d62-47c8-bd51-6468b83855e4	1b8d7af8-3100-4f69-9f2c-4916afd1298b	g.chr2:163070543G>C	ENST00000188790.4	-	11	1114	c.907C>G	c.(907-909)Cga>Gga	p.R303G	FAP_ENST00000443424.1_Missense_Mutation_p.R278G	NM_004460.2	NP_004451.2			fibroblast activation protein, alpha											NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(34)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)	63						AAACATACTCGTTCATCAGTA	0.403																																						ENST00000188790.4																			0				NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(34)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)	63						c.(907-909)Cga>Gga		fibroblast activation protein, alpha							101	98	99					2																	163070543		2203	4300	6503	SO:0001583	missense	2191				endothelial cell migration|negative regulation of extracellular matrix disassembly|proteolysis	cell junction|integral to membrane|invadopodium membrane|lamellipodium membrane	dipeptidyl-peptidase activity|metalloendopeptidase activity|protein homodimerization activity|serine-type endopeptidase activity	g.chr2:163070543G>C	U09278	CCDS33311.1	2q23	2008-02-05			ENSG00000078098	ENSG00000078098			3590	protein-coding gene	gene with protein product	"seprase"	600403				9247085, 14707457	Standard	NM_004460		Approved	DPPIV	uc002ucd.3	Q12884	OTTHUMG00000153890	ENST00000188790.4:c.907C>G	2.37:g.163070543G>C	ENSP00000188790:p.Arg303Gly					FAP_ENST00000443424.1_Missense_Mutation_p.R278G	p.R303G	NM_004460.2	NP_004451.2	Q12884	SEPR_HUMAN			11	1114	-			303						Missense_Mutation	SNP	ENST00000188790.4	37	c.907C>G	CCDS33311.1	.	.	.	.	.	.	.	.	.	.	G	18.83	3.706255	0.68615	.	.	ENSG00000078098	ENST00000188790;ENST00000443424	D;T	0.96232	-3.95;1.4	5.53	2.58	0.30949	Peptidase S9B, dipeptidylpeptidase IV N-terminal (1);	0.135690	0.49916	D	0.000137	D	0.97583	0.9208	M	0.81497	2.545	0.58432	D	0.999997	P;D;D	0.71674	0.806;0.998;0.998	P;D;D	0.63703	0.616;0.917;0.917	D	0.97101	0.9797	10	0.66056	D	0.02	-19.9316	14.3053	0.66380	0.0:0.0:0.6111:0.3889	.	278;303;303	B4DLR2;B2RD89;Q12884	.;.;SEPR_HUMAN	G	303;278	ENSP00000188790:R303G;ENSP00000411391:R278G	ENSP00000188790:R303G	R	-	1	2	FAP	162778789	1.000000	0.71417	0.649000	0.29536	0.955000	0.61496	4.856000	0.62932	0.222000	0.20900	0.655000	0.94253	CGA		0.403	FAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332852.2			16	71	0	0	0	1	0	16	71					C	163070543	G	C	163070543	3	2	6	1	0	0	0	0	1	0	0	0	5673	1153	40	5	1439	5	FAP	2	163070543	Missense_Mutation	SNP	G	TCGA-2A-A8W1-01A-11D-A377-08	21124544	163070543	80128830	8	197											
SCN5A	6331	broad.mit.edu	37	chr3	38601865	38601865	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagccagaagatgaggcagaCgaggaggacgttcatgatgg	13	5	17	6	2	1	5	1	2	0	3	1	9	1	7	1	4	1	2	1	4	1	1	rs199473605		TCGA-2A-A8W1-01A-11D-A377-08	TCGA-2A-A8W1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaee15be-7d62-47c8-bd51-6468b83855e4	1b8d7af8-3100-4f69-9f2c-4916afd1298b	g.chr3:38601865C>T	ENST00000333535.4	-	23	4167	c.4018G>A	c.(4018-4020)Gtc>Atc	p.V1340I	SCN5A_ENST00000425664.1_Missense_Mutation_p.V1340I|SCN5A_ENST00000450102.2_Missense_Mutation_p.V1286I|SCN5A_ENST00000449557.2_Missense_Mutation_p.V1286I|SCN5A_ENST00000451551.2_Missense_Mutation_p.V1286I|SCN5A_ENST00000413689.1_Missense_Mutation_p.V1340I|SCN5A_ENST00000423572.2_Missense_Mutation_p.V1339I|SCN5A_ENST00000414099.2_Missense_Mutation_p.V1340I|SCN5A_ENST00000455624.2_Missense_Mutation_p.V1339I|SCN5A_ENST00000443581.1_Missense_Mutation_p.V1339I			Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	1340					AV node cell to bundle of His cell communication (GO:0086067)|brainstem development (GO:0003360)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cardiac muscle cell action potential involved in contraction (GO:0086002)|cardiac muscle contraction (GO:0060048)|cardiac ventricle development (GO:0003231)|cellular response to calcium ion (GO:0071277)|cerebellum development (GO:0021549)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane depolarization during SA node cell action potential (GO:0086046)|neuronal action potential (GO:0019228)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of action potential (GO:0045760)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of sodium ion transport (GO:0010765)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of sodium ion transmembrane transport (GO:1902305)|regulation of ventricular cardiac muscle cell membrane depolarization (GO:0060373)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|telencephalon development (GO:0021537)|ventricular cardiac muscle cell action potential (GO:0086005)	caveola (GO:0005901)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	ankyrin binding (GO:0030506)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|fibroblast growth factor binding (GO:0017134)|ion channel binding (GO:0044325)|nitric-oxide synthase binding (GO:0050998)|protein kinase binding (GO:0019901)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)|voltage-gated sodium channel activity (GO:0005248)|voltage-gated sodium channel activity involved in cardiac muscle cell action potential (GO:0086006)			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Ajmaline(DB01426)|Aprindine(DB01429)|Benzonatate(DB00868)|Carbamazepine(DB00564)|Cinchocaine(DB00527)|Cocaine(DB00907)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lidocaine(DB00281)|Mexiletine(DB00379)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine barbiturate(DB01346)|Quinidine(DB00908)|Ranolazine(DB00243)|Riluzole(DB00740)|Tocainide(DB01056)|Valproic Acid(DB00313)|Verapamil(DB00661)|Zonisamide(DB00909)	ATGAGGCAGACGAGGAGGACG	0.577																																						ENST00000413689.1																			0				NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107						c.(4018-4020)Gtc>Atc		sodium channel, voltage-gated, type V, alpha subunit	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)						112	106	108					3																	38601865		2203	4300	6503	SO:0001583	missense	6331				blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity	g.chr3:38601865C>T	AJ310893	CCDS46796.1, CCDS46797.1, CCDS46798.1, CCDS46799.1, CCDS54569.1, CCDS54570.1	3p21	2014-09-17	2007-01-23		ENSG00000183873	ENSG00000183873		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10593	protein-coding gene	gene with protein product	"long QT syndrome 3"	600163	"sodium channel, voltage-gated, type V, alpha (long QT syndrome 3)"	CMD1E		7842012, 15466643, 16382098	Standard	NM_198056		Approved	Nav1.5, LQT3, HB1, HBBD, PFHB1, IVF, HB2, HH1, SSS1, CDCD2, CMPD2, ICCD	uc021wvl.1	Q14524	OTTHUMG00000156166	ENST00000333535.4:c.4018G>A	3.37:g.38601865C>T	ENSP00000328968:p.Val1340Ile					SCN5A_ENST00000333535.4_Missense_Mutation_p.V1340I|SCN5A_ENST00000455624.2_Missense_Mutation_p.V1339I|SCN5A_ENST00000423572.2_Missense_Mutation_p.V1339I|SCN5A_ENST00000449557.2_Missense_Mutation_p.V1286I|SCN5A_ENST00000414099.2_Missense_Mutation_p.V1340I|SCN5A_ENST00000450102.2_Missense_Mutation_p.V1286I|SCN5A_ENST00000443581.1_Missense_Mutation_p.V1339I|SCN5A_ENST00000451551.2_Missense_Mutation_p.V1286I|SCN5A_ENST00000425664.1_Missense_Mutation_p.V1340I	p.V1340I	NM_001099404.1|NM_001160160.1	NP_001092874.1|NP_001153632.1	Q14524	SCN5A_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	23	4211	-	Medulloblastoma(35;0.163)		1340					A5H1P8|A6N922|A6N923|B2RTU0|E7ET19|E9PEF3|E9PEK2|E9PFW7|Q59H93|Q75RX9|Q75RY0|Q86UR3|Q8IZC9|Q96J69	Missense_Mutation	SNP	ENST00000333535.4	37	c.4018G>A	CCDS46796.1	.	.	.	.	.	.	.	.	.	.	C	29.3	4.994698	0.93167	.	.	ENSG00000183873	ENST00000414099;ENST00000423572;ENST00000413689;ENST00000451551;ENST00000443581;ENST00000425664;ENST00000333535;ENST00000455624;ENST00000450102;ENST00000449557	D;D;D;D;D;D;D;D;D;D	0.98493	-4.96;-4.96;-4.96;-4.96;-4.96;-4.96;-4.96;-4.96;-4.96;-4.96	4.25	4.25	0.50352	Ion transport (1);	0.133960	0.49916	D	0.000126	D	0.98865	0.9616	M	0.80616	2.505	0.54753	D	0.999989	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;0.998	D;D;D;D;D;D;P	0.87578	0.977;0.995;0.984;0.991;0.996;0.998;0.859	D	0.99758	1.1020	10	0.87932	D	0	.	17.2234	0.86963	0.0:1.0:0.0:0.0	.	1286;1339;1340;1340;1340;1339;1340	E9PEF3;E9PHB6;Q14524-6;E9PG18;Q14524;Q14524-2;E9PEK2	.;.;.;.;SCN5A_HUMAN;.;.	I	1340;1339;1340;1286;1339;1340;1340;1339;1286;1286	ENSP00000398962:V1340I;ENSP00000398266:V1339I;ENSP00000410257:V1340I;ENSP00000388797:V1286I;ENSP00000397915:V1339I;ENSP00000416634:V1340I;ENSP00000328968:V1340I;ENSP00000399524:V1339I;ENSP00000403355:V1286I;ENSP00000413996:V1286I	ENSP00000328968:V1340I	V	-	1	0	SCN5A	38576869	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.848000	0.69458	2.355000	0.79922	0.655000	0.94253	GTC		0.577	SCN5A-014	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000377958.1	NM_198056		16	21	0	0	0	1	0	16	21					T	38601865	C	T	38601865	3	4	6	1	0	0	0	0	1	0	0	0	13922	536	19	1	2056	1	SCN5A	3	38601865	Missense_Mutation	SNP	C	TCGA-2A-A8W1-01A-11D-A377-08		38601865	159420565	9	198											
ABHD14A	25864	broad.mit.edu	37	chr3	52014456	52014456	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggcaagcacagaggcagggCgggcagcgctgctggagcgg	9	2	20	10	3	0	1	0	0	0	1	0	2	0	2	0	6	4	6	0	6	1	0			TCGA-2A-A8W1-01A-11D-A377-08	TCGA-2A-A8W1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaee15be-7d62-47c8-bd51-6468b83855e4	1b8d7af8-3100-4f69-9f2c-4916afd1298b	g.chr3:52014456C>T	ENST00000273596.3	+	4	513	c.445C>T	c.(445-447)Cgg>Tgg	p.R149W	ABHD14A_ENST00000491470.1_Intron|ABHD14A-ACY1_ENST00000463937.1_Intron|ABHD14B_ENST00000483233.1_Intron|ACY1_ENST00000458031.2_Intron	NM_015407.4	NP_056222.2	Q9BUJ0	ABHEA_HUMAN	abhydrolase domain containing 14A	149						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	hydrolase activity (GO:0016787)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|stomach(1)	6				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000541)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		AGAGGCAGGGCGGGCAGCGCT	0.637																																						ENST00000273596.3																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|stomach(1)	6						c.(445-447)Cgg>Tgg		abhydrolase domain containing 14A							40	46	44					3																	52014456		2203	4300	6503	SO:0001583	missense	25864					cytoplasm|integral to membrane	hydrolase activity	g.chr3:52014456C>T	AY358201	CCDS2843.1	3p21.1	2011-02-14			ENSG00000248487	ENSG00000248487		"Abhydrolase domain containing"	24538	protein-coding gene	gene with protein product							Standard	NM_015407		Approved	DKFZP564O243, DORZ1	uc003dco.3	Q9BUJ0	OTTHUMG00000157818	ENST00000273596.3:c.445C>T	3.37:g.52014456C>T	ENSP00000273596:p.Arg149Trp					ABHD14A-ACY1_ENST00000463937.1_Intron|ACY1_ENST00000458031.2_Intron|ABHD14B_ENST00000483233.1_Intron|ABHD14A_ENST00000491470.1_Intron	p.R149W	NM_015407.4	NP_056222.2	Q9BUJ0	ABHEA_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000541)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	4	513	+			149					Q6UXU8|Q9Y3T7	Missense_Mutation	SNP	ENST00000273596.3	37	c.445C>T	CCDS2843.1	.	.	.	.	.	.	.	.	.	.	C	15.24	2.773789	0.49786	.	.	ENSG00000248487	ENST00000497864;ENST00000494478;ENST00000273596;ENST00000538216	T;T;T	0.37584	1.28;1.19;1.89	5.69	3.88	0.44766	.	.	.	.	.	T	0.55289	0.1911	M	0.66439	2.03	0.80722	D	1	D	0.89917	1.0	D	0.69654	0.965	T	0.54892	-0.8225	9	0.48119	T	0.1	.	13.216	0.59861	0.2904:0.7096:0.0:0.0	.	149	Q9BUJ0	ABHEA_HUMAN	W	214;144;149;107	ENSP00000418242:R214W;ENSP00000420475:R144W;ENSP00000273596:R149W	ENSP00000273596:R149W	R	+	1	2	ABHD14A	51989496	0.990000	0.36364	0.994000	0.49952	0.623000	0.37688	2.192000	0.42649	0.732000	0.32470	0.563000	0.77884	CGG		0.637	ABHD14A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349689.1	NM_015407		16	4	0	0	0	1	0	16	4					T	52014456	C	T	52014456	3	4	6	1	0	0	0	0	1	0	0	0	79	759	27	1	459	1	ABHD14A	3	52014456	Missense_Mutation	SNP	C	TCGA-2A-A8W1-01A-11D-A377-08	13412591	52014456	146007974	10	199											
SLC12A8	84561	broad.mit.edu	37	chr3	124854566	124854566	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaaaaaagattcccccgggCtgtaatcgggcagcgtgttg	10	9	13	9	3	0	2	0	1	0	1	2	2	1	2	2	2	1	4	2	2	4	3			TCGA-2A-A8W1-01A-11D-A377-08	TCGA-2A-A8W1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaee15be-7d62-47c8-bd51-6468b83855e4	1b8d7af8-3100-4f69-9f2c-4916afd1298b	g.chr3:124854566C>T	ENST00000393469.4	-	5	732	c.683G>A	c.(682-684)aGc>aAc	p.S228N	SLC12A8_ENST00000469902.1_Missense_Mutation_p.S228N|SLC12A8_ENST00000423114.2_Missense_Mutation_p.S257N|SLC12A8_ENST00000314584.7_5'UTR	NM_001195483.1	NP_001182412	A0AV02	S12A8_HUMAN	solute carrier family 12, member 8	228					potassium ion transport (GO:0006813)	integral component of membrane (GO:0016021)	symporter activity (GO:0015293)			endometrium(2)|kidney(2)|lung(12)	16						TTCCCCCGGGCTGTAATCGGG	0.443																																						ENST00000423114.2																			0				endometrium(2)|kidney(2)|lung(12)	16						c.(769-771)aGc>aAc		solute carrier family 12, member 8							69	71	70					3																	124854566		1901	4120	6021	SO:0001583	missense	84561				potassium ion transport	integral to membrane	symporter activity	g.chr3:124854566C>T		CCDS43143.1	3q21.2	2013-07-18	2013-07-18		ENSG00000221955	ENSG00000221955		"Solute carriers"	15595	protein-coding gene	gene with protein product	"solute carrier family 12 (sodium/potassium/chloride transporters), member 8", "cation-chloride cotransporter 9"	611316				11863360	Standard	NM_024628		Approved	CCC9	uc003ehv.4	A0AV02	OTTHUMG00000159483	ENST00000393469.4:c.683G>A	3.37:g.124854566C>T	ENSP00000377112:p.Ser228Asn					SLC12A8_ENST00000314584.7_5'UTR|SLC12A8_ENST00000469902.1_Missense_Mutation_p.S228N|SLC12A8_ENST00000393469.4_Missense_Mutation_p.S228N	p.S257N			A0AV02	S12A8_HUMAN			6	769	-			228					C9JJJ2|Q68D04|Q6I9Z2|Q6P4C0|Q7Z3A6|Q86WK0|Q8NFX9|Q8WUI3|Q96RF9|Q9H5P9	Missense_Mutation	SNP	ENST00000393469.4	37	c.770G>A	CCDS43143.1	.	.	.	.	.	.	.	.	.	.	c	17.50	3.405203	0.62288	.	.	ENSG00000221955	ENST00000393469;ENST00000423114;ENST00000469902;ENST00000479826	D;D;D;D	0.98876	-5.2;-5.2;-5.2;-5.2	5.14	4.25	0.50352	Amino acid permease domain (1);	.	.	.	.	D	0.98049	0.9357	L	0.58510	1.815	0.80722	D	1	P;B;P	0.50066	0.931;0.397;0.656	P;B;B	0.54965	0.765;0.274;0.243	D	0.97166	0.9841	9	0.19590	T	0.45	.	12.6109	0.56549	0.0:0.8154:0.1846:0.0	.	120;257;228	B5MDT1;A0AV02-2;A0AV02	.;.;S12A8_HUMAN	N	228;257;228;110	ENSP00000377112:S228N;ENSP00000404243:S257N;ENSP00000418783:S228N;ENSP00000420197:S110N	ENSP00000377112:S228N	S	-	2	0	SLC12A8	126337256	0.994000	0.37717	1.000000	0.80357	0.913000	0.54294	1.143000	0.31553	1.356000	0.45884	0.550000	0.68814	AGC		0.443	SLC12A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355711.4	NM_024628		5	32	0	0	0	1	0	5	32					T	124854566	C	T	124854566	3	4	6	1	0	0	0	0	1	0	0	0	14389	797	28	3	1497	3	SLC12A8	3	124854566	Missense_Mutation	SNP	C	TCGA-2A-A8W1-01A-11D-A377-08	72840110	124854566	73167864	11	200											
EPHB1	2047	broad.mit.edu	37	chr3	134670794	134670794	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagaggaagtggacgtgccCatcaaactctactgcaacgg	12	6	12	11	2	2	1	1	0	1	1	2	3	2	3	1	3	5	2	1	3	4	1			TCGA-2A-A8W1-01A-11D-A377-08	TCGA-2A-A8W1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaee15be-7d62-47c8-bd51-6468b83855e4	1b8d7af8-3100-4f69-9f2c-4916afd1298b	g.chr3:134670794C>T	ENST00000398015.3	+	3	1075	c.705C>T	c.(703-705)ccC>ccT	p.P235P	EPHB1_ENST00000488154.1_Intron	NM_004441.4	NP_004432.1	P54762	EPHB1_HUMAN	EPH receptor B1	235	Cys-rich.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|camera-type eye morphogenesis (GO:0048593)|cell chemotaxis (GO:0060326)|cell-substrate adhesion (GO:0031589)|central nervous system projection neuron axonogenesis (GO:0021952)|dendritic spine development (GO:0060996)|dendritic spine morphogenesis (GO:0060997)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|ephrin receptor signaling pathway (GO:0048013)|establishment of cell polarity (GO:0030010)|neural precursor cell proliferation (GO:0061351)|neurogenesis (GO:0022008)|optic nerve morphogenesis (GO:0021631)|positive regulation of synapse assembly (GO:0051965)|protein autophosphorylation (GO:0046777)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of JNK cascade (GO:0046328)|retinal ganglion cell axon guidance (GO:0031290)	axon (GO:0030424)|early endosome membrane (GO:0031901)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|transmembrane-ephrin receptor activity (GO:0005005)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						TGGACGTGCCCATCAAACTCT	0.557																																						ENST00000398015.3																			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						c.(703-705)ccC>ccT		EPH receptor B1							173	170	171					3																	134670794		2099	4251	6350	SO:0001819	synonymous_variant	2047					integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding	g.chr3:134670794C>T	L40636	CCDS46921.1	3q21-q23	2013-02-11	2004-10-28			ENSG00000154928		"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3392	protein-coding gene	gene with protein product		600600	"EphB1"	EPHT2		8666391	Standard	NM_004441		Approved	Hek6	uc003eqt.3	P54762		ENST00000398015.3:c.705C>T	3.37:g.134670794C>T						EPHB1_ENST00000488154.1_Intron	p.P235P	NM_004441.4	NP_004432.1	P54762	EPHB1_HUMAN			3	1075	+			235			Cys-rich.		A8K593|B3KTB2|B5A969|O43569|O95142|O95143|Q0VG87	Silent	SNP	ENST00000398015.3	37	c.705C>T	CCDS46921.1																																																																																				0.557	EPHB1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357671.1	NM_004441		65	79	0	0	0	1	0	65	79					T	134670794	C	T	134670794	2	4	6	1	0	0	0	0	0	0	0	1	5174	581	21	3		3	EPHB1	3	134670794	Silent	SNP	C	TCGA-2A-A8W1-01A-11D-A377-08	9816228	134670794	63351636	12	201											
BMP3	651	broad.mit.edu	37	chr4	81967606	81967606	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acagagaaaggggcctcatcGgaagagccagacgctccaat	14	4	12	11	2	1	3	1	0	0	3	3	5	2	4	3	3	1	1	3	3	3	0	rs200995746		TCGA-2A-A8W1-01A-11D-A377-08	TCGA-2A-A8W1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaee15be-7d62-47c8-bd51-6468b83855e4	1b8d7af8-3100-4f69-9f2c-4916afd1298b	g.chr4:81967606G>A	ENST00000282701.2	+	2	1351	c.1031G>A	c.(1030-1032)cGg>cAg	p.R344Q		NM_001201.2	NP_001192.2	P12645	BMP3_HUMAN	bone morphogenetic protein 3	344					cartilage development (GO:0051216)|cell differentiation (GO:0030154)|cell-cell signaling (GO:0007267)|growth (GO:0040007)|ossification (GO:0001503)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal system development (GO:0001501)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	BMP receptor binding (GO:0070700)|receptor binding (GO:0005102)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1)	29						GGGCCTCATCGGAAGAGCCAG	0.493																																						ENST00000282701.2																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1)	29						c.(1030-1032)cGg>cAg		bone morphogenetic protein 3		A	GLN/ARG	1,4405	825.4+/-416.5	0,1,2202	48	48	48		1031	4	0.4	4		48	1,8599	818.4+/-406.9	0,1,4299	yes	missense	BMP3	NM_001201.2	43	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	benign	344/473	81967606	2,13004	2203	4300	6503	SO:0001583	missense	651				cartilage development|cell differentiation|cell-cell signaling|growth|ossification	extracellular space	BMP receptor binding|cytokine activity|growth factor activity	g.chr4:81967606G>A	M22491	CCDS3588.1	4q21	2013-02-06	2008-05-22		ENSG00000152785	ENSG00000152785		"Bone morphogenetic proteins"	1070	protein-coding gene	gene with protein product	"osteogenin"	112263	"bone morphogenetic protein 3 (osteogenic)"				Standard	NM_001201		Approved		uc003hmg.4	P12645	OTTHUMG00000130292	ENST00000282701.2:c.1031G>A	4.37:g.81967606G>A	ENSP00000282701:p.Arg344Gln						p.R344Q	NM_001201.2	NP_001192.2	P12645	BMP3_HUMAN			2	1351	+			344					Q4VAS5	Missense_Mutation	SNP	ENST00000282701.2	37	c.1031G>A	CCDS3588.1	.	.	.	.	.	.	.	.	.	.	A	1.010	-0.688174	0.03328	2.27E-4	1.16E-4	ENSG00000152785	ENST00000282701	T	0.73258	-0.73	5.16	3.95	0.45737	.	0.211174	0.50627	N	0.000103	T	0.24509	0.0594	N	0.00075	-2.25	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.37337	-0.9710	10	0.07644	T	0.81	.	7.1354	0.25525	0.7965:0.0:0.0726:0.1308	.	344	P12645	BMP3_HUMAN	Q	344	ENSP00000282701:R344Q	ENSP00000282701:R344Q	R	+	2	0	BMP3	82186630	1.000000	0.71417	0.436000	0.26797	0.024000	0.10985	2.725000	0.47294	0.350000	0.24002	-0.254000	0.11334	CGG		0.493	BMP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252634.1			26	21	0	0	0	1	0	26	21					A	81967606	G	A	81967606	3	1	6	1	0	0	0	0	1	0	0	0	1461	1116	39	2	1037	2	BMP3	4	81967606	Missense_Mutation	SNP	G	TCGA-2A-A8W1-01A-11D-A377-08		81967606	109186670	13	202											
SYNE1	23345	broad.mit.edu	37	chr6	152754966	152754966	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcatgtccatggcagatgaCgaagtttccaaggcattgag	11	10	12	8	1	0	3	0	2	0	1	2	4	2	3	2	2	1	4	2	2	2	2			TCGA-2A-A8W1-01A-11D-A377-08	TCGA-2A-A8W1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaee15be-7d62-47c8-bd51-6468b83855e4	1b8d7af8-3100-4f69-9f2c-4916afd1298b	g.chr6:152754966C>T	ENST00000367255.5	-	34	5026	c.4425G>A	c.(4423-4425)tcG>tcA	p.S1475S	SYNE1_ENST00000448038.1_Silent_p.S1482S|SYNE1_ENST00000341594.5_Silent_p.S1545S|SYNE1_ENST00000265368.4_Silent_p.S1475S|SYNE1_ENST00000423061.1_Silent_p.S1482S|SYNE1_ENST00000367248.3_3'UTR|SYNE1_ENST00000367253.4_Silent_p.S1475S	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	1475					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TGGCAGATGACGAAGTTTCCA	0.373										HNSCC(10;0.0054)																												ENST00000367255.5																			0				NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524						c.(4423-4425)tcG>tcA		spectrin repeat containing, nuclear envelope 1							165	153	157					6																	152754966		2203	4300	6503	SO:0001819	synonymous_variant	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152754966C>T	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"myocyte nuclear envelope protein 1", "nuclear envelope spectrin repeat-1"	608441	"chromosome 6 open reading frame 98"	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.4425G>A	6.37:g.152754966C>T		HNSCC(10;0.0054)				SYNE1_ENST00000265368.4_Silent_p.S1475S|SYNE1_ENST00000341594.5_Silent_p.S1545S|SYNE1_ENST00000448038.1_Silent_p.S1482S|SYNE1_ENST00000367253.4_Silent_p.S1475S|SYNE1_ENST00000367248.3_3'UTR|SYNE1_ENST00000423061.1_Silent_p.S1482S	p.S1475S	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	34	5026	-		Ovarian(120;0.0955)	1475					E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Silent	SNP	ENST00000367255.5	37	c.4425G>A	CCDS5236.2																																																																																				0.373	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		7	114	0	0	0	1	0	7	114					T	152754966	C	T	152754966	2	4	6	1	0	0	0	0	0	0	0	1	15442	523	19	1		1	SYNE1	6	152754966	Silent	SNP	C	TCGA-2A-A8W1-01A-11D-A377-08		152754966	18360101	14	203											
PDK4	5166	broad.mit.edu	37	chr7	95222106	95222106	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	agcatccgagtagaaatacgGttcatgtaaaatcgatccaa	16	9	8	8	3	1	1	1	0	0	1	4	3	3	1	2	1	2	4	2	1	6	4			TCGA-2A-A8W1-01A-11D-A377-08	TCGA-2A-A8W1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaee15be-7d62-47c8-bd51-6468b83855e4	1b8d7af8-3100-4f69-9f2c-4916afd1298b	g.chr7:95222106G>C	ENST00000005178.5	-	4	692	c.495C>G	c.(493-495)aaC>aaG	p.N165K		NM_002612.3	NP_002603.1	Q16654	PDK4_HUMAN	pyruvate dehydrogenase kinase, isozyme 4	165	Histidine kinase. {ECO:0000255|PROSITE- ProRule:PRU00107}.				cellular metabolic process (GO:0044237)|cellular response to fatty acid (GO:0071398)|cellular response to starvation (GO:0009267)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|insulin receptor signaling pathway (GO:0008286)|negative regulation of anoikis (GO:2000811)|protein phosphorylation (GO:0006468)|pyruvate metabolic process (GO:0006090)|reactive oxygen species metabolic process (GO:0072593)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|regulation of bone resorption (GO:0045124)|regulation of cellular ketone metabolic process (GO:0010565)|regulation of fatty acid biosynthetic process (GO:0042304)|regulation of fatty acid oxidation (GO:0046320)|regulation of glucose metabolic process (GO:0010906)|regulation of pH (GO:0006885)|response to starvation (GO:0042594)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|pyruvate dehydrogenase (acetyl-transferring) kinase activity (GO:0004740)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|liver(1)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	15	all_cancers(62;1.06e-10)|all_epithelial(64;1.04e-09)|Lung NSC(181;0.128)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0151)			TAGAAATACGGTTCATGTAAA	0.373																																						ENST00000005178.5																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|liver(1)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	15						c.(493-495)aaC>aaG		pyruvate dehydrogenase kinase, isozyme 4							136	131	133					7																	95222106		2203	4300	6503	SO:0001583	missense	5166				glucose metabolic process|peptidyl-histidine phosphorylation|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	ATP binding|pyruvate dehydrogenase (acetyl-transferring) kinase activity|two-component sensor activity	g.chr7:95222106G>C	U54617	CCDS5643.1	7q21.3-q22.1	2008-07-18	2005-11-16		ENSG00000004799	ENSG00000004799			8812	protein-coding gene	gene with protein product		602527	"pyruvate dehydrogenase kinase, isoenzyme 4"			7499431	Standard	NM_002612		Approved		uc003uoa.3	Q16654	OTTHUMG00000153977	ENST00000005178.5:c.495C>G	7.37:g.95222106G>C	ENSP00000005178:p.Asn165Lys						p.N165K	NM_002612.3	NP_002603.1	Q16654	PDK4_HUMAN	STAD - Stomach adenocarcinoma(171;0.0151)		4	692	-	all_cancers(62;1.06e-10)|all_epithelial(64;1.04e-09)|Lung NSC(181;0.128)|all_lung(186;0.151)		165			Histidine kinase.			Missense_Mutation	SNP	ENST00000005178.5	37	c.495C>G	CCDS5643.1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.501492	0.85176	.	.	ENSG00000004799	ENST00000005178;ENST00000542888	T	0.30182	1.54	5.75	3.96	0.45880	Branched-chain alpha-ketoacid dehydrogenase kinase/Pyruvate dehydrogenase kinase, N-terminal (3);	0.037176	0.85682	D	0.000000	T	0.45875	0.1364	L	0.43152	1.355	0.58432	D	0.999998	D	0.62365	0.991	D	0.74348	0.983	T	0.41840	-0.9486	10	0.87932	D	0	.	12.5738	0.56352	0.1341:0.0:0.8659:0.0	.	165	Q16654	PDK4_HUMAN	K	165;129	ENSP00000005178:N165K	ENSP00000005178:N165K	N	-	3	2	PDK4	95060042	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.541000	0.53618	0.914000	0.36822	0.655000	0.94253	AAC		0.373	PDK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333298.1	NM_002612		4	64	0	0	0	1	0	4	64					C	95222106	G	C	95222106	3	2	6	1	0	0	0	0	1	0	0	0	11678	1252	44	5	772	5	PDK4	7	95222106	Missense_Mutation	SNP	G	TCGA-2A-A8W1-01A-11D-A377-08		95222106	63916557	15	204											
FEZF1	389549	broad.mit.edu	37	chr7	121943355	121943355	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gacgggttaagttatagtgcGcattaaagaccttaaaatta	15	12	9	5	2	0	1	0	0	0	1	0	2	0	1	1	1	1	3	1	1	8	6			TCGA-2A-A8W1-01A-11D-A377-08	TCGA-2A-A8W1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaee15be-7d62-47c8-bd51-6468b83855e4	1b8d7af8-3100-4f69-9f2c-4916afd1298b	g.chr7:121943355G>A	ENST00000442488.2	-	2	879	c.812C>T	c.(811-813)gCg>gTg	p.A271V	FEZF1_ENST00000331178.4_Missense_Mutation_p.A267V|FEZF1-AS1_ENST00000437317.1_RNA|FEZF1-AS1_ENST00000428449.1_RNA|FEZF1_ENST00000427185.2_Missense_Mutation_p.A221V	NM_001024613.2|NM_001160264.1	NP_001019784.2|NP_001153736.1	A0PJY2	FEZF1_HUMAN	FEZ family zinc finger 1	271					axon guidance (GO:0007411)|forebrain anterior/posterior pattern specification (GO:0021797)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|olfactory bulb development (GO:0021772)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)			breast(1)|large_intestine(3)|lung(18)|ovary(2)|prostate(1)	25						GTTATAGTGCGCATTAAAGAC	0.473																																						ENST00000442488.2																			0				breast(1)|large_intestine(3)|lung(18)|ovary(2)|prostate(1)	25						c.(811-813)gCg>gTg		FEZ family zinc finger 1							88	84	86					7																	121943355		2203	4300	6503	SO:0001583	missense	389549				cell differentiation|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:121943355G>A	AY726588	CCDS34741.1, CCDS34741.2, CCDS55157.1	7q31.32	2013-01-08	2006-08-15	2006-08-15	ENSG00000128610	ENSG00000128610		"Zinc fingers, C2H2-type"	22788	protein-coding gene	gene with protein product		613301	"zinc finger protein 312B"	ZNF312B			Standard	NM_001024613		Approved		uc003vkd.3	A0PJY2	OTTHUMG00000157091	ENST00000442488.2:c.812C>T	7.37:g.121943355G>A	ENSP00000411145:p.Ala271Val					FEZF1_ENST00000331178.4_Missense_Mutation_p.A267V|FEZF1_ENST00000427185.2_Missense_Mutation_p.A221V	p.A271V	NM_001024613.2|NM_001160264.1	NP_001019784.2|NP_001153736.1	A0PJY2	FEZF1_HUMAN			2	879	-			271					A0PJY3|A4D0W3|B4DUP9|B7ZM98	Missense_Mutation	SNP	ENST00000442488.2	37	c.812C>T	CCDS34741.2	.	.	.	.	.	.	.	.	.	.	G	23.5	4.425151	0.83667	.	.	ENSG00000128610	ENST00000442488;ENST00000331178;ENST00000427185	T;T;T	0.14766	3.23;2.48;3.23	5.22	5.22	0.72569	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.30603	0.0770	L	0.42245	1.32	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.991;0.996	T	0.01004	-1.1484	10	0.23891	T	0.37	-16.9756	19.1959	0.93689	0.0:0.0:1.0:0.0	.	271;221	A0PJY2;A0PJY2-2	FEZF1_HUMAN;.	V	271;267;221	ENSP00000411145:A271V;ENSP00000332777:A267V;ENSP00000392727:A221V	ENSP00000332777:A267V	A	-	2	0	FEZF1	121730591	1.000000	0.71417	0.983000	0.44433	0.959000	0.62525	7.887000	0.87295	2.598000	0.87819	0.644000	0.83932	GCG		0.473	FEZF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347410.1	NM_001024613		4	95	0	0	0	1	0	4	95					A	121943355	G	A	121943355	3	1	6	1	0	0	0	0	1	0	0	0	5825	1087	38	1	627	1	FEZF1	7	121943355	Missense_Mutation	SNP	G	TCGA-2A-A8W1-01A-11D-A377-08	26721249	121943355	37195308	16	205											
XKR9	389668	broad.mit.edu	37	chr8	71646088	71646088	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtcaactgttgattatcaagTagctttaagaaaatccttgc	13	14	7	7	0	2	2	2	1	0	1	3	2	3	2	1	0	3	3	1	0	7	6			TCGA-2A-A8W1-01A-11D-A377-08	TCGA-2A-A8W1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaee15be-7d62-47c8-bd51-6468b83855e4	1b8d7af8-3100-4f69-9f2c-4916afd1298b	g.chr8:71646088T>C	ENST00000408926.3	+	5	1085	c.551T>C	c.(550-552)gTa>gCa	p.V184A	XKR9_ENST00000520273.1_Intron|XKR9_ENST00000520030.1_Missense_Mutation_p.V184A	NM_001011720.1	NP_001011720.1	Q5GH70	XKR9_HUMAN	XK, Kell blood group complex subunit-related family, member 9	184						integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(4)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19	Breast(64;0.0716)		Epithelial(68;0.00301)|all cancers(69;0.0165)|OV - Ovarian serous cystadenocarcinoma(28;0.0524)|BRCA - Breast invasive adenocarcinoma(89;0.166)			GATTATCAAGTAGCTTTAAGA	0.313																																						ENST00000408926.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(4)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19						c.(550-552)gTa>gCa		XK, Kell blood group complex subunit-related family, member 9							81	76	78					8																	71646088		2203	4298	6501	SO:0001583	missense	389668					integral to membrane		g.chr8:71646088T>C	AY534247	CCDS34905.1	8q13.3	2006-01-12	2006-01-12			ENSG00000221947			20937	protein-coding gene	gene with protein product			"X Kell blood group precursor-related family, member 9"				Standard	NM_001287258		Approved		uc003xyq.3	Q5GH70		ENST00000408926.3:c.551T>C	8.37:g.71646088T>C	ENSP00000386141:p.Val184Ala					XKR9_ENST00000520030.1_Missense_Mutation_p.V184A|XKR9_ENST00000520273.1_Intron	p.V184A	NM_001011720.1	NP_001011720.1	Q5GH70	XKR9_HUMAN	Epithelial(68;0.00301)|all cancers(69;0.0165)|OV - Ovarian serous cystadenocarcinoma(28;0.0524)|BRCA - Breast invasive adenocarcinoma(89;0.166)		5	1085	+	Breast(64;0.0716)		184					B2RNS9|B9EH74	Missense_Mutation	SNP	ENST00000408926.3	37	c.551T>C	CCDS34905.1	.	.	.	.	.	.	.	.	.	.	T	14.14	2.446188	0.43429	.	.	ENSG00000221947	ENST00000408926;ENST00000520030	T;T	0.62639	0.01;0.01	4.69	4.69	0.59074	.	0.418104	0.26808	N	0.022383	T	0.49558	0.1564	L	0.36672	1.1	0.24235	N	0.995382	B	0.30563	0.285	B	0.28916	0.096	T	0.31943	-0.9925	10	0.11794	T	0.64	-6.6104	14.6127	0.68526	0.0:0.0:0.0:1.0	.	184	Q5GH70	XKR9_HUMAN	A	184	ENSP00000386141:V184A;ENSP00000431088:V184A	ENSP00000386141:V184A	V	+	2	0	XKR9	71808642	0.952000	0.32445	1.000000	0.80357	0.889000	0.51656	2.763000	0.47605	2.100000	0.63781	0.460000	0.39030	GTA		0.313	XKR9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378752.1	NM_001011720		16	67	0	0	0	1	0	16	67					C	71646088	T	C	71646088	3	2	6	1	0	0	0	0	1	0	0	0	17435	1638	57	4	561	4	XKR9	8	71646088	Missense_Mutation	SNP	T	TCGA-2A-A8W1-01A-11D-A377-08		71646088	74717934	17	206											
ODF2	4957	broad.mit.edu	37	chr9	131222909	131222909	+	Intron	DEL	A	A	-																															acccctgtccacgtccacatAaaaaaactcccgaaaccatc																										TCGA-2A-A8W1-01A-11D-A377-08	TCGA-2A-A8W1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaee15be-7d62-47c8-bd51-6468b83855e4	1b8d7af8-3100-4f69-9f2c-4916afd1298b	g.chr9:131222909delA	ENST00000434106.3	+	4	486				ODF2_ENST00000546203.1_Intron|ODF2_ENST00000393533.2_Intron|ODF2_ENST00000604420.1_Intron|ODF2_ENST00000372807.5_Frame_Shift_Del_p.I24fs|ODF2_ENST00000448249.3_Frame_Shift_Del_p.I24fs|ODF2_ENST00000351030.3_Frame_Shift_Del_p.I24fs|ODF2_ENST00000372791.3_Intron|ODF2_ENST00000393527.3_Frame_Shift_Del_p.I24fs|ODF2_ENST00000372814.3_Intron|ODF2_ENST00000444119.2_Frame_Shift_Del_p.I24fs|ODF2_ENST00000535026.1_Frame_Shift_Del_p.I24fs	NM_153433.1	NP_702911.1	Q5BJF6	ODFP2_HUMAN	outer dense fiber of sperm tails 2						G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|multicellular organismal development (GO:0007275)|regulation of cilium assembly (GO:1902017)|spermatid development (GO:0007286)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytosol (GO:0005829)|microtubule (GO:0005874)|nucleus (GO:0005634)|outer dense fiber (GO:0001520)|primary cilium (GO:0072372)	Rab GTPase binding (GO:0017137)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(7)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	37						ACGTCCACATAAAAAAACTCC	0.572																																						ENST00000303890.5																			0				autonomic_ganglia(1)|breast(7)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	37						c.(70-72)atfs		outer dense fiber of sperm tails 2							122	98	106					9																	131222909		2203	4300	6503	SO:0001627	intron_variant	4957				cell differentiation|G2/M transition of mitotic cell cycle|multicellular organismal development|spermatogenesis	centriole|cilium|cytosol|microtubule|spindle pole	protein binding|structural molecule activity	g.chr9:131222909delA	AF012549	CCDS6902.1, CCDS56585.1, CCDS56586.1, CCDS56587.1, CCDS56588.1, CCDS56589.1, CCDS56590.1	9q34	2010-04-23	2002-10-21		ENSG00000136811	ENSG00000136811			8114	protein-coding gene	gene with protein product	"cancer/testis antigen 134"	602015	"outer dense fibre of sperm tails 2"			9045620, 10072582	Standard	NM_153435		Approved	ODF84, CT134	uc004bvc.3	Q5BJF6	OTTHUMG00000020748	ENST00000434106.3:c.124-312A>-	9.37:g.131222909delA						ODF2_ENST00000372814.3_Intron|ODF2_ENST00000434106.2_Intron|ODF2_ENST00000372796.4_Intron|ODF2_ENST00000444119.2_Frame_Shift_Del_p.I24fs|ODF2_ENST00000351030.3_Frame_Shift_Del_p.I24fs|ODF2_ENST00000535026.1_Frame_Shift_Del_p.I24fs|ODF2_ENST00000393533.2_Intron|ODF2_ENST00000372791.3_Intron|ODF2_ENST00000372807.5_Frame_Shift_Del_p.I24fs|ODF2_ENST00000546203.1_Intron|ODF2_ENST00000448249.3_Frame_Shift_Del_p.I24fs	p.I24fs	NM_002540.4	NP_002531.3	Q5BJF6	ODFP2_HUMAN			5	657	+			0					B1AND3|B4DRK4|B4DX73|B4DZ02|E7EWL2|F5H6J4|O14721|O60631|Q1W2J6|Q6UN26|Q7Z5I6|Q96FN2	Frame_Shift_Del	DEL	ENST00000434106.3	37	c.72delA	CCDS56588.1																																																																																				0.572	ODF2-011	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054449.3			20	33						20	33	---	---	---	---	-	131222909	A	-	131222909	6	5	6	0	1	1	0	1	0	0	0	0	10827	352	13	0		0	ODF2	9	131222909	Intron	DEL	A	TCGA-2A-A8W1-01A-11D-A377-08		131222909	9990522	18	207											
ANAPC2	29882	broad.mit.edu	37	chr9	140074781	140074781	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggctgctcctctgctggcCgcttctcatcctcctcccgg	1	12	10	18	2	2	0	1	0	2	0	7	0	6	0	5	3	2	4	5	3	0	1			TCGA-2A-A8W1-01A-11D-A377-08	TCGA-2A-A8W1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaee15be-7d62-47c8-bd51-6468b83855e4	1b8d7af8-3100-4f69-9f2c-4916afd1298b	g.chr9:140074781C>T	ENST00000323927.2	-	10	1746	c.1742G>A	c.(1741-1743)cGg>cAg	p.R581Q		NM_013366.3	NP_037498.1	Q9UJX6	ANC2_HUMAN	anaphase promoting complex subunit 2	581					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of axon extension (GO:0045773)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic plasticity (GO:0031915)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)				breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	15	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.000858)		CTCTGCTGGCCGCTTCTCATC	0.667																																						ENST00000323927.2																			0				breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	15						c.(1741-1743)cGg>cAg		anaphase promoting complex subunit 2							57	55	56					9																	140074781		2203	4300	6503	SO:0001583	missense	29882				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|cyclin catabolic process|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of synapse maturation|positive regulation of synaptic plasticity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination|regulation of cyclin-dependent protein kinase activity	anaphase-promoting complex|cytosol|nucleoplasm	ubiquitin protein ligase binding|ubiquitin-protein ligase activity	g.chr9:140074781C>T	AB037827	CCDS7033.1	9q34.3	2011-06-15			ENSG00000176248	ENSG00000176248		"Anaphase promoting complex subunits"	19989	protein-coding gene	gene with protein product		606946				11739784	Standard	NM_013366		Approved	APC2, KIAA1406	uc004clr.1	Q9UJX6	OTTHUMG00000020983	ENST00000323927.2:c.1742G>A	9.37:g.140074781C>T	ENSP00000314004:p.Arg581Gln						p.R581Q	NM_013366.3	NP_037498.1	Q9UJX6	ANC2_HUMAN	STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.000858)	10	1746	-	all_cancers(76;0.0926)		581					Q5VSG1|Q96DG5|Q96GG4|Q9P2E1	Missense_Mutation	SNP	ENST00000323927.2	37	c.1742G>A	CCDS7033.1	.	.	.	.	.	.	.	.	.	.	C	12.67	2.008848	0.35415	.	.	ENSG00000176248	ENST00000323927	T	0.72835	-0.69	4.79	2.64	0.31445	Cullin, N-terminal (1);Cullin homology (3);	0.076641	0.52532	D	0.000069	T	0.40862	0.1134	N	0.03608	-0.345	0.29636	N	0.845089	B;B	0.06786	0.001;0.001	B;B	0.04013	0.001;0.001	T	0.27606	-1.0069	10	0.13853	T	0.58	-28.7334	8.083	0.30756	0.26:0.604:0.136:0.0	.	581;578	Q9UJX6;Q9UJX6-2	ANC2_HUMAN;.	Q	581	ENSP00000314004:R581Q	ENSP00000314004:R581Q	R	-	2	0	ANAPC2	139194602	1.000000	0.71417	0.998000	0.56505	0.646000	0.38490	3.105000	0.50314	0.980000	0.38523	0.462000	0.41574	CGG		0.667	ANAPC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055315.1	NM_013366		7	73	0	0	0	1	0	7	73					T	140074781	C	T	140074781	3	4	6	1	0	0	0	0	1	0	0	0	603	652	23	2	742	2	ANAPC2	9	140074781	Missense_Mutation	SNP	C	TCGA-2A-A8W1-01A-11D-A377-08	8851872	140074781	1138650	19	208											
ARHGAP21	57584	broad.mit.edu	37	chr10	24880205	24880205	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccaatgttggtgagtaaatGatctatgtttggcactggct	9	15	11	6	0	1	2	0	2	1	0	2	2	2	2	1	3	0	5	1	3	4	4			TCGA-2A-A8W1-01A-11D-A377-08	TCGA-2A-A8W1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaee15be-7d62-47c8-bd51-6468b83855e4	1b8d7af8-3100-4f69-9f2c-4916afd1298b	g.chr10:24880205G>T	ENST00000396432.2	-	24	4585	c.4099C>A	c.(4099-4101)Cat>Aat	p.H1367N	ARHGAP21_ENST00000320481.6_Missense_Mutation_p.H1154N	NM_020824.3	NP_065875.3	Q5T5U3	RHG21_HUMAN	Rho GTPase activating protein 21	1366					establishment of Golgi localization (GO:0051683)|Golgi organization (GO:0007030)|maintenance of Golgi location (GO:0051684)|organelle transport along microtubule (GO:0072384)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1)	78						GTGAGTAAATGATCTATGTTT	0.448																																						ENST00000396432.2																			0				NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1)	78						c.(4099-4101)Cat>Aat		Rho GTPase activating protein 21							178	173	175					10																	24880205		2203	4297	6500	SO:0001583	missense	57584				signal transduction	cell junction|cytoplasmic vesicle membrane|cytoskeleton|Golgi membrane	GTPase activator activity|protein binding	g.chr10:24880205G>T	AF480466	CCDS7144.2	10p12.31	2013-01-10			ENSG00000107863	ENSG00000107863		"Rho GTPase activating proteins", "Pleckstrin homology (PH) domain containing"	23725	protein-coding gene	gene with protein product		609870				12056806	Standard	NM_020824		Approved	KIAA1424, ARHGAP10	uc001isb.2	Q5T5U3	OTTHUMG00000017825	ENST00000396432.2:c.4099C>A	10.37:g.24880205G>T	ENSP00000379709:p.His1367Asn					ARHGAP21_ENST00000320481.6_Missense_Mutation_p.H1154N	p.H1367N	NM_020824.3	NP_065875.3	Q5T5U3	RHG21_HUMAN			24	4585	-			1366					Q0VF98|Q7Z3P7|Q8N3A2|Q8NI19|Q8TBV5|Q9P2C3	Missense_Mutation	SNP	ENST00000396432.2	37	c.4099C>A	CCDS7144.2	.	.	.	.	.	.	.	.	.	.	G	21.8	4.204825	0.79127	.	.	ENSG00000107863	ENST00000396432;ENST00000447364;ENST00000320481	T;T	0.12255	2.7;2.83	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	T	0.42653	0.1212	M	0.77103	2.36	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.24261	-1.0165	10	0.72032	D	0.01	.	20.0442	0.97604	0.0:0.0:1.0:0.0	.	1366	Q5T5U3	RHG21_HUMAN	N	1367;816;1154	ENSP00000379709:H1367N;ENSP00000365604:H1154N	ENSP00000365604:H1154N	H	-	1	0	ARHGAP21	24920211	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.805000	0.99149	2.814000	0.96858	0.655000	0.94253	CAT		0.448	ARHGAP21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047229.4	NM_020824		28	55	1	0	8.4185e-14	1	9.03449e-14	28	55					T	24880205	G	T	24880205	3	4	6	1	0	0	0	0	1	0	0	0	871	1290	45	5	1789	5	ARHGAP21	10	24880205	Missense_Mutation	SNP	G	TCGA-2A-A8W1-01A-11D-A377-08		24880205	110654542	20	209											
CCDC60	160777	broad.mit.edu	37	chr12	119968725	119968725	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagaggatctaaagaacttcCgccccgccaaaaagatcctg	14	6	8	13	2	1	3	0	0	1	3	3	4	3	4	5	1	1	0	5	1	5	2	rs372064797		TCGA-2A-A8W1-01A-11D-A377-08	TCGA-2A-A8W1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaee15be-7d62-47c8-bd51-6468b83855e4	1b8d7af8-3100-4f69-9f2c-4916afd1298b	g.chr12:119968725C>T	ENST00000327554.2	+	13	1873	c.1408C>T	c.(1408-1410)Cgc>Tgc	p.R470C	RP11-768F21.1_ENST00000509470.2_lincRNA	NM_178499.3	NP_848594.2	Q8IWA6	CCD60_HUMAN	coiled-coil domain containing 60	470										endometrium(4)|kidney(3)|large_intestine(8)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.207)		AAAGAACTTCCGCCCCGCCAA	0.493																																						ENST00000327554.2																			0				endometrium(4)|kidney(3)|large_intestine(8)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						c.(1408-1410)Cgc>Tgc		coiled-coil domain containing 60		C	CYS/ARG	0,4406		0,0,2203	91	89	90		1408	5.8	1	12		90	1,8599	1.2+/-3.3	0,1,4299	no	missense	CCDC60	NM_178499.3	180	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	470/551	119968725	1,13005	2203	4300	6503	SO:0001583	missense	160777							g.chr12:119968725C>T	BC040553	CCDS9190.1	12q24.23	2006-02-03			ENSG00000183273	ENSG00000183273			28610	protein-coding gene	gene with protein product						12477932	Standard	NM_178499		Approved	MGC39827	uc001txe.3	Q8IWA6	OTTHUMG00000168943	ENST00000327554.2:c.1408C>T	12.37:g.119968725C>T	ENSP00000333374:p.Arg470Cys					RP11-768F21.1_ENST00000509470.2_lincRNA	p.R470C	NM_178499.3	NP_848594.2	Q8IWA6	CCD60_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.207)	13	1873	+	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		470						Missense_Mutation	SNP	ENST00000327554.2	37	c.1408C>T	CCDS9190.1	.	.	.	.	.	.	.	.	.	.	C	19.75	3.885786	0.72410	0.0	1.16E-4	ENSG00000183273	ENST00000327554	T	0.25414	1.8	5.82	5.82	0.92795	.	0.383807	0.25164	N	0.032648	T	0.46814	0.1412	L	0.59436	1.845	0.80722	D	1	D	0.89917	1.0	D	0.66196	0.942	T	0.14980	-1.0453	9	.	.	.	-13.2127	17.0004	0.86380	0.0:1.0:0.0:0.0	.	470	Q8IWA6	CCD60_HUMAN	C	470	ENSP00000333374:R470C	.	R	+	1	0	CCDC60	118453108	0.987000	0.35691	1.000000	0.80357	0.977000	0.68977	1.831000	0.39141	2.751000	0.94390	0.655000	0.94253	CGC		0.493	CCDC60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401680.1	NM_178499		4	78	0	0	0	1	0	4	78					T	119968725	C	T	119968725	3	4	6	1	0	0	0	0	1	0	0	0	2831	652	23	2	1458	2	CCDC60	12	119968725	Missense_Mutation	SNP	C	TCGA-2A-A8W1-01A-11D-A377-08		119968725	13883170	21	210											
LRRC43	254050	broad.mit.edu	37	chr12	122685876	122685876	+	Splice_Site	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttaagaaagttgccaaaaaaGgtgagtgccgatggtggtga	14	9	14	4	1	0	3	0	2	0	1	0	4	0	3	2	3	2	1	2	3	5	2			TCGA-2A-A8W1-01A-11D-A377-08	TCGA-2A-A8W1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaee15be-7d62-47c8-bd51-6468b83855e4	1b8d7af8-3100-4f69-9f2c-4916afd1298b	g.chr12:122685876G>C	ENST00000339777.4	+	11	1871	c.1843G>C	c.(1843-1845)Gaa>Caa	p.E615Q	B3GNT4_ENST00000324189.4_5'Flank|LRRC43_ENST00000537733.1_3'UTR|LRRC43_ENST00000425921.1_Splice_Site_p.E430Q|B3GNT4_ENST00000546192.1_5'Flank	NM_152759.4	NP_689972.3	Q8N309	LRC43_HUMAN	leucine rich repeat containing 43	615										NS(1)|endometrium(1)|large_intestine(4)|lung(10)|skin(1)|upper_aerodigestive_tract(2)	19	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000312)|Epithelial(86;0.000539)|BRCA - Breast invasive adenocarcinoma(302;0.225)		TGCCAAAAAAGGTGAGTGCCG	0.522																																						ENST00000339777.4																			0				NS(1)|endometrium(1)|large_intestine(4)|lung(10)|skin(1)|upper_aerodigestive_tract(2)	19						c.e11+1		leucine rich repeat containing 43							139	145	143					12																	122685876		1914	4132	6046	SO:0001630	splice_region_variant	254050							g.chr12:122685876G>C	AK124107	CCDS45001.1	12q24.31	2014-09-11			ENSG00000158113	ENSG00000158113			28562	protein-coding gene	gene with protein product						12477932	Standard	NM_152759		Approved	MGC35140	uc009zxm.3	Q8N309	OTTHUMG00000168915	ENST00000339777.4:c.1843+1G>C	12.37:g.122685876G>C						LRRC43_ENST00000537733.1_3'UTR|LRRC43_ENST00000425921.1_Splice_Site_p.E430_splice	p.E615_splice	NM_152759.4	NP_689972.3	Q8N309	LRC43_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000312)|Epithelial(86;0.000539)|BRCA - Breast invasive adenocarcinoma(302;0.225)	11	1871	+	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		615					Q6ZVT9	Splice_Site	SNP	ENST00000339777.4	37	c.1843_splice	CCDS45001.1	.	.	.	.	.	.	.	.	.	.	G	14.55	2.567824	0.45798	.	.	ENSG00000158113	ENST00000339777;ENST00000289014;ENST00000425921	T;T	0.55760	0.5;0.92	3.66	3.66	0.41972	.	0.605551	0.15655	N	0.251194	T	0.49609	0.1567	L	0.40543	1.245	0.27777	N	0.943276	P	0.34684	0.463	B	0.43658	0.426	T	0.42241	-0.9463	10	0.25106	T	0.35	-0.9642	11.5993	0.50993	0.0:0.0:1.0:0.0	.	615	Q8N309	LRC43_HUMAN	Q	615;486;430	ENSP00000344233:E615Q;ENSP00000416628:E430Q	ENSP00000289014:E486Q	E	+	1	0	LRRC43	121251829	1.000000	0.71417	0.686000	0.30086	0.172000	0.22775	3.812000	0.55628	1.989000	0.58080	0.561000	0.74099	GAA		0.522	LRRC43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401589.1	NM_152759	Missense_Mutation	24	39	0	0	0	1	0	24	39					C	122685876	G	C	122685876	5	2	6	1	0	0	0	0	0	0	1	0	9001	1014	35	5	1885	5	LRRC43	12	122685876	Splice_Site	SNP	G	TCGA-2A-A8W1-01A-11D-A377-08	2717151	122685876	11166019	22	211											
KIAA0564	23078	broad.mit.edu	37	chr13	42273390	42273390	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgcatgtaactacatagagAgtattttgctcattttctga	11	17	7	6	0	2	2	1	1	1	1	2	3	2	2	0	0	4	4	0	0	4	9			TCGA-2A-A8W1-01A-11D-A377-08	TCGA-2A-A8W1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaee15be-7d62-47c8-bd51-6468b83855e4	1b8d7af8-3100-4f69-9f2c-4916afd1298b	g.chr13:42273390A>C	ENST00000379310.3	-	29	3449	c.3381T>G	c.(3379-3381)acT>acG	p.T1127T		NM_015058.1	NP_055873.1	A3KMH1	VWA8_HUMAN	von Willebrand factor A domain containing 8	1127						extracellular region (GO:0005576)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)										CTACATAGAGAGTATTTTGCT	0.378																																						ENST00000379310.3																			0											c.(3379-3381)acT>acG		von Willebrand factor A domain containing 8							78	76	77					13																	42273390		1841	4089	5930	SO:0001819	synonymous_variant	23078							g.chr13:42273390A>C	AB011136	CCDS31963.1, CCDS41881.1	13q14.11	2013-11-18	2012-08-02	2012-08-02	ENSG00000102763	ENSG00000102763			29071	protein-coding gene	gene with protein product			"KIAA0564"	KIAA0564		9628581	Standard	NM_015058		Approved		uc001uyj.3	A3KMH1	OTTHUMG00000016799	ENST00000379310.3:c.3381T>G	13.37:g.42273390A>C							p.T1127T	NM_015058.1	NP_055873.1					29	3449	-								O60310|Q5JTP6|Q5VW08|Q7Z6I9|Q86YC9|Q8N3E4	Silent	SNP	ENST00000379310.3	37	c.3381T>G	CCDS41881.1																																																																																				0.378	VWA8-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354828.2	NM_015058		29	35	0	0	0	1	0	29	35					C	42273390	A	C	42273390	2	2	6	1	0	0	0	0	0	0	0	1	8185	291	11	5		5	KIAA0564	13	42273390	Silent	SNP	A	TCGA-2A-A8W1-01A-11D-A377-08		42273390	72896488	23	212											
FOXA1	3169	broad.mit.edu	37	chr14	38061516	38061517	+	In_Frame_Ins	INS	-	-	CGC																															gcgcttgaacgtcttggcgtINScgccgccgccgcccgcgcgg																										TCGA-2A-A8W1-01A-11D-A377-08	TCGA-2A-A8W1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaee15be-7d62-47c8-bd51-6468b83855e4	1b8d7af8-3100-4f69-9f2c-4916afd1298b	g.chr14:38061516_38061517insCGC	ENST00000250448.2	-	2	533_534	c.472_473insGCG	c.(472-474)gac>gGCGac	p.157_158insG	FOXA1_ENST00000540786.1_In_Frame_Ins_p.124_125insG|FOXA1_ENST00000545425.2_5'UTR	NM_004496.3	NP_004487.2	P55317	FOXA1_HUMAN	forkhead box A1	157					anatomical structure formation involved in morphogenesis (GO:0048646)|chromatin remodeling (GO:0006338)|dorsal/ventral neural tube patterning (GO:0021904)|epithelial cell maturation involved in prostate gland development (GO:0060743)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|epithelial-mesenchymal signaling involved in prostate gland development (GO:0060738)|glucose homeostasis (GO:0042593)|hormone metabolic process (GO:0042445)|lung epithelial cell differentiation (GO:0060487)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron fate specification (GO:0048665)|positive regulation of cell-cell adhesion mediated by cadherin (GO:2000049)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prostate gland epithelium morphogenesis (GO:0060740)|prostate gland stromal morphogenesis (GO:0060741)|response to estradiol (GO:0032355)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)	microvillus (GO:0005902)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)	p.D158N(1)		breast(1)|endometrium(1)|large_intestine(2)|lung(3)|prostate(12)	19	Breast(36;0.0954)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		Lung(238;5.41e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0454)|LUSC - Lung squamous cell carcinoma(13;0.0917)|all cancers(34;0.0925)|BRCA - Breast invasive adenocarcinoma(188;0.239)	GBM - Glioblastoma multiforme(112;0.0222)		CGTCTTGGCGTcgccgccgccg	0.698																																						ENST00000250448.2																			1	Substitution - Missense(1)	p.D158N(1)	lung(1)	breast(1)|endometrium(1)|large_intestine(2)|lung(3)|prostate(12)	19						c.(472-474)cgc>GCGcgc		forkhead box A1																																				SO:0001652	inframe_insertion	3169				chromatin remodeling|embryo development|epithelial cell maturation involved in prostate gland development|epithelial tube branching involved in lung morphogenesis|epithelial-mesenchymal signaling involved in prostate gland development|glucose homeostasis|lung epithelial cell differentiation|negative regulation of survival gene product expression|neuron fate specification|pattern specification process|positive regulation of estrogen receptor signaling pathway|positive regulation of mitotic cell cycle|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|prostate gland epithelium morphogenesis|prostate gland stromal morphogenesis|response to estradiol stimulus|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development	transcription factor complex	DNA bending activity|double-stranded DNA binding|protein domain specific binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding	g.chr14:38061516_38061517insCGC	U39840	CCDS9665.1	14q12-q13	2008-04-10		2002-09-20	ENSG00000129514	ENSG00000129514		"Forkhead boxes"	5021	protein-coding gene	gene with protein product		602294	"hepatocyte nuclear factor 3, alpha"	HNF3A		9119385, 8652662	Standard	NM_004496		Approved		uc001wuf.4	P55317	OTTHUMG00000140253	ENST00000250448.2:c.470_472dupGCG	14.37:g.38061523_38061525dupCGC	ENSP00000250448:p.Gly157_Gly157dup					FOXA1_ENST00000545425.2_5'UTR|FOXA1_ENST00000540786.1_In_Frame_Ins_p.124_125insA	p.157_158insA	NM_004496.3	NP_004487.2	P55317	FOXA1_HUMAN	Lung(238;5.41e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0454)|LUSC - Lung squamous cell carcinoma(13;0.0917)|all cancers(34;0.0925)|BRCA - Breast invasive adenocarcinoma(188;0.239)	GBM - Glioblastoma multiforme(112;0.0222)	2	533_534	-	Breast(36;0.0954)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		157					B2R9H6|B7ZAP5|Q9H2A0	In_Frame_Ins	INS	ENST00000250448.2	37	c.472_473insGCG	CCDS9665.1																																																																																				0.698	FOXA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276735.1			11	28						11	28	---	---	---	---	CGC	38061517	-	CGC	38061516	7	5	6	1	0	1	1	0	0	0	0	0	5989	1667	58	0	949	0	FOXA1	14	38061516	In_Frame_Ins	INS	-	TCGA-2A-A8W1-01A-11D-A377-08		38061516	69288024	24	213											
EPB42	2038	broad.mit.edu	37	chr15	43498578	43498578	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcttcctccagagcttggcaGcaaggacaccgttgtagtgt	8	11	11	11	1	1	1	0	0	1	1	3	2	3	2	3	2	2	5	3	2	2	4			TCGA-2A-A8W1-01A-11D-A377-08	TCGA-2A-A8W1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaee15be-7d62-47c8-bd51-6468b83855e4	1b8d7af8-3100-4f69-9f2c-4916afd1298b	g.chr15:43498578G>A	ENST00000441366.2	-	10	1793	c.1568C>T	c.(1567-1569)gCt>gTt	p.A523V	EPB42_ENST00000540029.1_Missense_Mutation_p.A445V|EPB42_ENST00000563128.1_5'UTR|EPB42_ENST00000300215.3_Missense_Mutation_p.A553V	NM_000119.2|NM_001114134.1	NP_000110.2|NP_001107606.1	P16452	EPB42_HUMAN	erythrocyte membrane protein band 4.2	523					cell morphogenesis (GO:0000902)|erythrocyte maturation (GO:0043249)|hemoglobin metabolic process (GO:0020027)|iron ion homeostasis (GO:0055072)|peptide cross-linking (GO:0018149)|regulation of cell shape (GO:0008360)|spleen development (GO:0048536)	cortical cytoskeleton (GO:0030863)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)|structural constituent of cytoskeleton (GO:0005200)			endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;8.7e-07)		GAGCTTGGCAGCAAGGACACC	0.572																																						ENST00000300215.3																			0				endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						c.(1657-1659)gCt>gTt		erythrocyte membrane protein band 4.2							143	112	123					15																	43498578		2203	4299	6502	SO:0001583	missense	2038				erythrocyte maturation|peptide cross-linking|regulation of cell shape	cytoplasm|cytoskeleton|plasma membrane	ATP binding|protein binding|protein-glutamine gamma-glutamyltransferase activity|structural constituent of cytoskeleton	g.chr15:43498578G>A	M60298	CCDS10093.1, CCDS45249.1	15q15-q21	2013-05-02			ENSG00000166947	ENSG00000166947		"Transglutaminases"	3381	protein-coding gene	gene with protein product	"Erythrocyte surface protein band 4.2"	177070				1284644	Standard	NM_000119		Approved	PA, MGC116735, MGC116737	uc001zrb.4	P16452	OTTHUMG00000130701	ENST00000441366.2:c.1568C>T	15.37:g.43498578G>A	ENSP00000396616:p.Ala523Val					EPB42_ENST00000563128.1_5'UTR|EPB42_ENST00000441366.2_Missense_Mutation_p.A523V|EPB42_ENST00000540029.1_Missense_Mutation_p.A445V	p.A553V			P16452	EPB42_HUMAN		GBM - Glioblastoma multiforme(94;8.7e-07)	10	2115	-		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)	523					Q4KKX0|Q4VB97	Missense_Mutation	SNP	ENST00000441366.2	37	c.1658C>T	CCDS45249.1	.	.	.	.	.	.	.	.	.	.	G	15.59	2.877903	0.51801	.	.	ENSG00000166947	ENST00000300215;ENST00000540029;ENST00000441366;ENST00000397027	T;T;T	0.68903	-0.36;-0.36;-0.36	5.08	4.17	0.49024	Transglutaminase, C-terminal (2);Immunoglobulin-like fold (1);	0.696678	0.15188	N	0.275739	T	0.57475	0.2056	M	0.61703	1.905	0.09310	N	0.999999	P;B;B;B	0.40180	0.705;0.082;0.134;0.163	B;B;B;B	0.34242	0.178;0.049;0.041;0.068	T	0.46665	-0.9175	10	0.19147	T	0.46	-2.342	9.6341	0.39798	0.0948:0.0:0.9052:0.0	.	445;523;553;523	F5H563;B7Z4C3;P16452-2;P16452	.;.;.;EPB42_HUMAN	V	553;445;523;451	ENSP00000300215:A553V;ENSP00000444699:A445V;ENSP00000396616:A523V	ENSP00000300215:A553V	A	-	2	0	EPB42	41285870	0.075000	0.21258	0.773000	0.31616	0.887000	0.51463	1.236000	0.32683	1.381000	0.46364	0.561000	0.74099	GCT		0.572	EPB42-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432219.1	NM_000119		4	121	0	0	0	1	0	4	121					A	43498578	G	A	43498578	3	1	6	1	0	0	0	0	1	0	0	0	5158	971	34	3	523	3	EPB42	15	43498578	Missense_Mutation	SNP	G	TCGA-2A-A8W1-01A-11D-A377-08		43498578	59032814	25	214											
RHOT2	89941	broad.mit.edu	37	chr16	721165	721165	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctgcggcgcttcggctacagCgatgccctggagctgactgc	5	8	14	14	4	0	1	0	1	0	0	1	3	0	2	1	3	6	3	1	3	1	2			TCGA-2A-A8W1-01A-11D-A377-08	TCGA-2A-A8W1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaee15be-7d62-47c8-bd51-6468b83855e4	1b8d7af8-3100-4f69-9f2c-4916afd1298b	g.chr16:721165C>A	ENST00000315082.4	+	11	945	c.831C>A	c.(829-831)agC>agA	p.S277R		NM_138769.2	NP_620124.1	Q8IXI1	MIRO2_HUMAN	ras homolog family member T2	277					cellular homeostasis (GO:0019725)|mitochondrial outer membrane permeabilization (GO:0097345)|mitochondrion transport along microtubule (GO:0047497)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of mitochondrial outer membrane (GO:0031307)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)			endometrium(2)|kidney(3)|lung(4)|ovary(1)|pancreas(2)|prostate(1)	13		Hepatocellular(780;0.0218)				TCGGCTACAGCGATGCCCTGG	0.632																																						ENST00000315082.4																			0				endometrium(2)|kidney(3)|lung(4)|ovary(1)|pancreas(2)|prostate(1)	13						c.(829-831)agC>agA		ras homolog family member T2							79	75	76					16																	721165		2200	4300	6500	SO:0001583	missense	89941				apoptosis|cellular homeostasis|mitochondrion transport along microtubule|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|integral to mitochondrial outer membrane|plasma membrane	calcium ion binding|GTP binding|GTPase activity|protein binding	g.chr16:721165C>A	BC014942	CCDS10417.1	16p13.3	2013-01-10	2012-02-27	2004-03-24	ENSG00000140983	ENSG00000140983		"EF-hand domain containing"	21169	protein-coding gene	gene with protein product	"mitochondrial Rho (MIRO) GTPase 2"	613889	"chromosome 16 open reading frame 39", "ras homolog gene family, member T2"	C16orf39, ARHT2		12482879	Standard	NM_138769		Approved	MIRO-2	uc002cip.3	Q8IXI1	OTTHUMG00000121139	ENST00000315082.4:c.831C>A	16.37:g.721165C>A	ENSP00000321971:p.Ser277Arg						p.S277R	NM_138769.2	NP_620124.1	Q8IXI1	MIRO2_HUMAN			11	945	+		Hepatocellular(780;0.0218)	277					A2IDC2|Q8NF53|Q96C13|Q96S17|Q9BT60|Q9H7M8	Missense_Mutation	SNP	ENST00000315082.4	37	c.831C>A	CCDS10417.1	.	.	.	.	.	.	.	.	.	.	C	15.22	2.768533	0.49680	.	.	ENSG00000140983	ENST00000315082	T	0.43294	0.95	5.05	-10.1	0.00402	EF hand associated, type-2 (1);	0.186262	0.56097	D	0.000035	T	0.27933	0.0688	L	0.38175	1.15	0.23483	N	0.997582	P	0.50943	0.94	P	0.48654	0.585	T	0.63305	-0.6667	10	0.66056	D	0.02	2.4852	5.5057	0.16852	0.1449:0.4517:0.3027:0.1006	.	277	Q8IXI1	MIRO2_HUMAN	R	277	ENSP00000321971:S277R	ENSP00000321971:S277R	S	+	3	2	RHOT2	661166	0.000000	0.05858	0.003000	0.11579	0.003000	0.03518	-2.883000	0.00714	-4.509000	0.00045	-1.069000	0.02264	AGC		0.632	RHOT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241617.1	NM_138769		3	68	1	0	0.115264	1	0.115264	3	68					A	721165	C	A	721165	3	1	6	1	0	0	0	0	1	0	0	0	13344	767	27	5	873	5	RHOT2	16	721165	Missense_Mutation	SNP	C	TCGA-2A-A8W1-01A-11D-A377-08		721165	89633588	26	215											
IRX3	79191	broad.mit.edu	37	chr16	54319405	54319405	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctggtggcgttcttgggacGggacgggtccccgaactggt	4	9	17	11	4	1	0	0	0	1	0	2	3	2	2	3	6	1	1	3	6	1	2			TCGA-2A-A8W1-01A-11D-A377-08	TCGA-2A-A8W1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaee15be-7d62-47c8-bd51-6468b83855e4	1b8d7af8-3100-4f69-9f2c-4916afd1298b	g.chr16:54319405G>A	ENST00000329734.3	-	2	1100	c.388C>T	c.(388-390)Cgt>Tgt	p.R130C		NM_024336.2	NP_077312.2	P78415	IRX3_HUMAN	iroquois homeobox 3	130					mesoderm development (GO:0007498)|metanephros development (GO:0001656)|negative regulation of neuron differentiation (GO:0045665)|positive regulation of neuron differentiation (GO:0045666)|regulation of transcription, DNA-templated (GO:0006355)|specification of loop of Henle identity (GO:0072086)|transcription, DNA-templated (GO:0006351)	axon (GO:0030424)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|soft_tissue(1)|urinary_tract(1)	14						TTCTTGGGACGGGACGGGTCC	0.677																																					GBM(143;1830 1866 4487 4646 37383)	ENST00000329734.3																			0				endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|soft_tissue(1)|urinary_tract(1)	14						c.(388-390)Cgt>Tgt		iroquois homeobox 3							94	75	81					16																	54319405		2198	4300	6498	SO:0001583	missense	79191				multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr16:54319405G>A	U90308	CCDS10750.1	16q12.2	2011-06-20	2007-07-13		ENSG00000177508	ENSG00000177508		"Homeoboxes / TALE class"	14360	protein-coding gene	gene with protein product		612985					Standard	NM_024336		Approved	IRX-1	uc002eht.1	P78415	OTTHUMG00000133200	ENST00000329734.3:c.388C>T	16.37:g.54319405G>A	ENSP00000331608:p.Arg130Cys						p.R130C	NM_024336.2	NP_077312.2	P78415	IRX3_HUMAN			2	1100	-			130					Q7Z4A4|Q7Z4A5|Q8IVC6	Missense_Mutation	SNP	ENST00000329734.3	37	c.388C>T	CCDS10750.1	.	.	.	.	.	.	.	.	.	.	G	14.02	2.409750	0.42715	.	.	ENSG00000177508	ENST00000329734	T	0.65916	-0.18	3.84	1.82	0.25136	Homeodomain-related (1);Homeobox (1);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	T	0.76111	0.3942	M	0.86502	2.82	0.80722	D	1	D	0.89917	1.0	D	0.75484	0.986	T	0.73338	-0.4014	10	0.72032	D	0.01	-2.0244	4.7363	0.12989	0.1063:0.0:0.5138:0.3799	.	130	P78415	IRX3_HUMAN	C	130	ENSP00000331608:R130C	ENSP00000331608:R130C	R	-	1	0	IRX3	52876906	1.000000	0.71417	0.999000	0.59377	0.465000	0.32709	2.841000	0.48223	0.383000	0.24910	-0.251000	0.11542	CGT		0.677	IRX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256910.2			3	28	0	0	0	1	0	3	28					A	54319405	G	A	54319405	3	1	6	1	0	0	0	0	1	0	0	0	7845	1116	39	2	1129	2	IRX3	16	54319405	Missense_Mutation	SNP	G	TCGA-2A-A8W1-01A-11D-A377-08	53598240	54319405	36035348	27	216											
PLLP	51090	broad.mit.edu	37	chr16	57290877	57290877	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccgcattgctgcctactcctCgccaggcctggtagctgaag	6	9	11	15	2	0	1	0	1	0	0	2	1	1	1	5	2	4	4	5	2	3	3			TCGA-2A-A8W1-01A-11D-A377-08	TCGA-2A-A8W1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaee15be-7d62-47c8-bd51-6468b83855e4	1b8d7af8-3100-4f69-9f2c-4916afd1298b	g.chr16:57290877C>T	ENST00000219207.5	-	4	643	c.497G>A	c.(496-498)cGa>cAa	p.R166Q	PLLP_ENST00000569059.1_Missense_Mutation_p.R108Q	NM_015993.2	NP_057077.1	Q9Y342	PLLP_HUMAN	plasmolipin	166	MARVEL. {ECO:0000255|PROSITE- ProRule:PRU00581}.				ion transport (GO:0006811)|myelination (GO:0042552)|response to wounding (GO:0009611)	compact myelin (GO:0043218)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)				endometrium(1)|prostate(1)	2						GCCTACTCCTCGCCAGGCCTG	0.597																																						ENST00000219207.5																			0				endometrium(1)|prostate(1)	2						c.(496-498)cGa>cAa		plasmolipin							93	79	84					16																	57290877		2198	4300	6498	SO:0001583	missense	51090					integral to membrane	ion channel activity	g.chr16:57290877C>T	AF137386	CCDS10777.1	16q13	2010-06-24	2010-06-24	2005-03-21	ENSG00000102934	ENSG00000102934			18553	protein-coding gene	gene with protein product	"plasma membrane proteolipid"	600340	"transmembrane 4 superfamily member 11 (plasmolipin)", "plasma membrane proteolipid (plasmolipin)"	TM4SF11		11707781	Standard	NM_015993		Approved	PMLP	uc002elg.2	Q9Y342	OTTHUMG00000133465	ENST00000219207.5:c.497G>A	16.37:g.57290877C>T	ENSP00000219207:p.Arg166Gln					PLLP_ENST00000569059.1_Missense_Mutation_p.R108Q	p.R166Q	NM_015993.2	NP_057077.1	Q9Y342	PLLP_HUMAN			4	643	-			166			MARVEL.		B2R9T6	Missense_Mutation	SNP	ENST00000219207.5	37	c.497G>A	CCDS10777.1	.	.	.	.	.	.	.	.	.	.	C	29.3	4.995507	0.93167	.	.	ENSG00000102934	ENST00000219207	T	0.55588	0.51	5.65	4.49	0.54785	Marvel (1);	0.152498	0.39834	N	0.001248	T	0.42154	0.1190	L	0.53561	1.675	0.46874	D	0.99923	P	0.48640	0.913	B	0.37888	0.26	T	0.44019	-0.9355	10	0.54805	T	0.06	-27.7063	7.8219	0.29292	0.0:0.8216:0.0:0.1784	.	166	Q9Y342	PLLP_HUMAN	Q	166	ENSP00000219207:R166Q	ENSP00000219207:R166Q	R	-	2	0	PLLP	55848378	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.499000	0.35671	2.824000	0.97209	0.655000	0.94253	CGA		0.597	PLLP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257341.2			5	60	0	0	0	1	0	5	60					T	57290877	C	T	57290877	3	4	6	1	0	0	0	0	1	0	0	0	12099	884	31	2	55	2	PLLP	16	57290877	Missense_Mutation	SNP	C	TCGA-2A-A8W1-01A-11D-A377-08	2971472	57290877	33063876	28	217											
ZNF846	162993	broad.mit.edu	37	chr19	9868382	9868382	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tttgtggaacgagcaaatgcTttaccgcattccttacattc	10	14	7	10	2	0	0	0	0	0	0	2	2	1	1	2	1	5	3	2	1	4	6			TCGA-2A-A8W1-01A-11D-A377-08	TCGA-2A-A8W1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaee15be-7d62-47c8-bd51-6468b83855e4	1b8d7af8-3100-4f69-9f2c-4916afd1298b	g.chr19:9868382T>A	ENST00000397902.2	-	6	1784	c.1371A>T	c.(1369-1371)aaA>aaT	p.K457N	ZNF846_ENST00000586293.1_3'UTR|ZNF846_ENST00000592859.1_Intron|ZNF846_ENST00000588267.1_Intron	NM_001077624.1	NP_001071092.1	Q147U1	ZN846_HUMAN	zinc finger protein 846	457					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	22						GAGCAAATGCTTTACCGCATT	0.438																																						ENST00000397902.2																			0				NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	22						c.(1369-1371)aaA>aaT		zinc finger protein 846							94	105	101					19																	9868382		2153	4278	6431	SO:0001583	missense	162993				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:9868382T>A	AK097652	CCDS42496.1	19p13.2	2013-01-08			ENSG00000196605	ENSG00000196605		"Zinc fingers, C2H2-type", "-"	27260	protein-coding gene	gene with protein product							Standard	NM_001077624		Approved		uc002mmb.1	Q147U1		ENST00000397902.2:c.1371A>T	19.37:g.9868382T>A	ENSP00000380999:p.Lys457Asn					ZNF846_ENST00000592859.1_Intron|ZNF846_ENST00000586293.1_3'UTR|ZNF846_ENST00000588267.1_Intron	p.K457N	NM_001077624.1	NP_001071092.1	Q147U1	ZN846_HUMAN			6	1784	-			457					A8K0H1|B3KUP1	Missense_Mutation	SNP	ENST00000397902.2	37	c.1371A>T	CCDS42496.1	.	.	.	.	.	.	.	.	.	.	.	14.69	2.611741	0.46631	.	.	ENSG00000196605	ENST00000397902	T	0.07908	3.15	2.04	2.04	0.26737	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.26666	0.0652	M	0.86651	2.83	0.18873	N	0.999982	D	0.65815	0.995	P	0.61592	0.891	T	0.03287	-1.1052	8	.	.	.	.	8.067	0.30667	0.0:0.0:0.0:1.0	.	457	Q147U1	ZN846_HUMAN	N	457	ENSP00000380999:K457N	.	K	-	3	2	ZNF846	9729382	0.000000	0.05858	0.010000	0.14722	0.006000	0.05464	-1.326000	0.02685	1.205000	0.43262	0.454000	0.30748	AAA		0.438	ZNF846-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450253.1	NM_001077624		6	87	0	0	0	1	0	6	87					A	9868382	T	A	9868382	3	1	6	1	0	0	0	0	1	0	0	0	18189	1606	56	5	234	5	ZNF846	19	9868382	Missense_Mutation	SNP	T	TCGA-2A-A8W1-01A-11D-A377-08		9868382	49260601	29	218			1	1		2	2	21	N	T_C	2.067379e-05
ZNF846	162993	broad.mit.edu	37	chr19	9868402	9868402	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tttaccgcattccttacattCacaggccttttctccagtgt	7	16	5	13	1	2	0	1	0	1	0	4	0	3	0	4	1	2	1	4	1	2	7			TCGA-2A-A8W1-01A-11D-A377-08	TCGA-2A-A8W1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaee15be-7d62-47c8-bd51-6468b83855e4	1b8d7af8-3100-4f69-9f2c-4916afd1298b	g.chr19:9868402C>G	ENST00000397902.2	-	6	1764	c.1351G>C	c.(1351-1353)Gaa>Caa	p.E451Q	ZNF846_ENST00000586293.1_3'UTR|ZNF846_ENST00000592859.1_Intron|ZNF846_ENST00000588267.1_Intron	NM_001077624.1	NP_001071092.1	Q147U1	ZN846_HUMAN	zinc finger protein 846	451					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	22						TCCTTACATTCACAGGCCTTT	0.433																																						ENST00000397902.2																			0				NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	22						c.(1351-1353)Gaa>Caa		zinc finger protein 846							84	96	92					19																	9868402		2146	4282	6428	SO:0001583	missense	162993				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:9868402C>G	AK097652	CCDS42496.1	19p13.2	2013-01-08			ENSG00000196605	ENSG00000196605		"Zinc fingers, C2H2-type", "-"	27260	protein-coding gene	gene with protein product							Standard	NM_001077624		Approved		uc002mmb.1	Q147U1		ENST00000397902.2:c.1351G>C	19.37:g.9868402C>G	ENSP00000380999:p.Glu451Gln					ZNF846_ENST00000592859.1_Intron|ZNF846_ENST00000586293.1_3'UTR|ZNF846_ENST00000588267.1_Intron	p.E451Q	NM_001077624.1	NP_001071092.1	Q147U1	ZN846_HUMAN			6	1764	-			451					A8K0H1|B3KUP1	Missense_Mutation	SNP	ENST00000397902.2	37	c.1351G>C	CCDS42496.1	.	.	.	.	.	.	.	.	.	.	.	11.20	1.568941	0.28003	.	.	ENSG00000196605	ENST00000397902	T	0.07444	3.19	2.04	-1.4	0.08968	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.04137	0.0115	N	0.11756	0.17	0.09310	N	1	P	0.39282	0.666	B	0.38194	0.267	T	0.43212	-0.9405	8	.	.	.	.	6.1254	0.20176	0.0:0.3772:0.0:0.6228	.	451	Q147U1	ZN846_HUMAN	Q	451	ENSP00000380999:E451Q	.	E	-	1	0	ZNF846	9729402	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-5.299000	0.00133	-0.268000	0.09312	-0.266000	0.10368	GAA		0.433	ZNF846-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450253.1	NM_001077624		7	92	0	0	0	1	0	7	92					G	9868402	C	G	9868402	3	3	6	1	0	0	0	0	1	0	0	0	18189	835	29	5	254	5	ZNF846	19	9868402	Missense_Mutation	SNP	C	TCGA-2A-A8W1-01A-11D-A377-08	20	9868402	49260581	30	219			1	1		2	2	21	N	T_C	2.067379e-05
ZNF254	9534	broad.mit.edu	37	chr19	24310294	24310294	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatgtgaagaatgtggcaaaTcttttagccaatcctcaacc	14	11	7	9	0	2	2	1	1	1	1	3	2	3	2	3	1	2	1	3	1	7	2	rs554981870		TCGA-2A-A8W1-01A-11D-A377-08	TCGA-2A-A8W1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaee15be-7d62-47c8-bd51-6468b83855e4	1b8d7af8-3100-4f69-9f2c-4916afd1298b	g.chr19:24310294T>G	ENST00000357002.4	+	4	1607	c.1492T>G	c.(1492-1494)Tct>Gct	p.S498A	ZNF254_ENST00000342944.6_Missense_Mutation_p.S413A	NM_001278661.1|NM_001278662.1|NM_001278664.1|NM_001278677.1|NM_001278678.1|NM_203282.2	NP_001265590.1|NP_001265591.1|NP_001265593.1|NP_001265606.1|NP_001265607.1|NP_975011.3	O75437	ZN254_HUMAN	zinc finger protein 254	498					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)						all_cancers(12;0.086)|all_lung(12;0.00528)|Lung NSC(12;0.00731)|all_epithelial(12;0.0186)				ATGTGGCAAATCTTTTAGCCA	0.408																																						ENST00000357002.4																			0											c.(1492-1494)Tct>Gct		zinc finger protein 254							60	62	61					19																	24310294		2201	4297	6498	SO:0001583	missense	9534				negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:24310294T>G	AF054180	CCDS32983.1, CCDS62622.1, CCDS62623.1, CCDS74323.1, CCDS74324.1	19p13	2013-01-08				ENSG00000213096		"Zinc fingers, C2H2-type", "-"	13047	protein-coding gene	gene with protein product		604768	"zinc finger protein 539"	ZNF91L, ZNF539		9653160	Standard	NM_001278661		Approved	HD-ZNF1, BMZF-5	uc002nru.3	O75437		ENST00000357002.4:c.1492T>G	19.37:g.24310294T>G	ENSP00000349494:p.Ser498Ala					ZNF254_ENST00000342944.6_Missense_Mutation_p.S413A	p.S498A	NM_001278661.1|NM_001278662.1|NM_001278664.1|NM_001278677.1|NM_001278678.1|NM_203282.2	NP_001265590.1|NP_001265591.1|NP_001265593.1|NP_001265606.1|NP_001265607.1|NP_975011.3	O75437	ZN254_HUMAN			4	1607	+		all_cancers(12;0.086)|all_lung(12;0.00528)|Lung NSC(12;0.00731)|all_epithelial(12;0.0186)	498					A4QPC0|Q86XL7	Missense_Mutation	SNP	ENST00000357002.4	37	c.1492T>G	CCDS32983.1	.	.	.	.	.	.	.	.	.	.	T	0.001	-3.794782	0.00004	.	.	ENSG00000213096	ENST00000342944;ENST00000357002	T;T	0.35605	1.3;1.3	1.07	-0.329	0.12686	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.12689	0.0308	N	0.04686	-0.185	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.32322	-0.9911	9	0.02654	T	1	.	5.3479	0.16020	0.0:0.0:0.4143:0.5857	.	498	O75437	ZN254_HUMAN	A	413;498	ENSP00000445527:S413A;ENSP00000349494:S498A	ENSP00000445527:S413A	S	+	1	0	ZNF254	24102134	0.000000	0.05858	0.038000	0.18304	0.305000	0.27757	-1.126000	0.03254	-0.309000	0.08779	-0.762000	0.03455	TCT		0.408	ZNF254-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466453.1	NM_004876		4	90	0	0	0	1	0	4	90					G	24310294	T	G	24310294	3	3	6	1	0	0	0	0	1	0	0	0	17795	1435	50	5	1506	5	ZNF254	19	24310294	Missense_Mutation	SNP	T	TCGA-2A-A8W1-01A-11D-A377-08	14441892	24310294	34818689	31	220											
COL20A1	57642	broad.mit.edu	37	chr20	61929342	61929342	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agtcggaggggagcggcctcGgctacctggtgcaggtgaag	7	6	19	9	3	0	1	0	1	0	0	2	3	0	3	2	7	3	2	2	7	2	1			TCGA-2A-A8W1-01A-11D-A377-08	TCGA-2A-A8W1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaee15be-7d62-47c8-bd51-6468b83855e4	1b8d7af8-3100-4f69-9f2c-4916afd1298b	g.chr20:61929342G>A	ENST00000358894.6	+	3	263	c.163G>A	c.(163-165)Ggc>Agc	p.G55S	COL20A1_ENST00000422202.1_Missense_Mutation_p.G55S|COL20A1_ENST00000435874.1_Missense_Mutation_p.G55S|COL20A1_ENST00000326996.6_Missense_Mutation_p.G55S	NM_020882.2	NP_065933.2	Q9P218	COKA1_HUMAN	collagen, type XX, alpha 1	55	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)				NS(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(21)|ovary(1)|prostate(3)|urinary_tract(2)	36	all_cancers(38;1.39e-10)					GAGCGGCCTCGGCTACCTGGT	0.642																																						ENST00000422202.1																			0				NS(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(21)|ovary(1)|prostate(3)|urinary_tract(2)	36						c.(163-165)Ggc>Agc		collagen, type XX, alpha 1							37	48	44					20																	61929342		2013	4156	6169	SO:0001583	missense	57642				cell adhesion	collagen|extracellular space	structural molecule activity	g.chr20:61929342G>A	BC043183	CCDS46628.1	20q13.33	2014-02-12			ENSG00000101203	ENSG00000101203		"Collagens", "Fibronectin type III domain containing"	14670	protein-coding gene	gene with protein product						10819331	Standard	NM_020882		Approved	KIAA1510	uc011aau.2	Q9P218	OTTHUMG00000032964	ENST00000358894.6:c.163G>A	20.37:g.61929342G>A	ENSP00000351767:p.Gly55Ser					COL20A1_ENST00000358894.6_Missense_Mutation_p.G55S|COL20A1_ENST00000435874.1_Missense_Mutation_p.G55S|COL20A1_ENST00000326996.6_Missense_Mutation_p.G55S	p.G55S			Q9P218	COKA1_HUMAN			2	231	+	all_cancers(38;1.39e-10)		55			Fibronectin type-III 1.		Q4VXQ4|Q6PI59|Q8WUT2|Q96CY9|Q9BQU6|Q9BQU7	Missense_Mutation	SNP	ENST00000358894.6	37	c.163G>A	CCDS46628.1	.	.	.	.	.	.	.	.	.	.	G	16.78	3.217326	0.58560	.	.	ENSG00000101203	ENST00000358894;ENST00000326996;ENST00000435874;ENST00000422202	T;T;T;T	0.60040	0.22;0.22;0.22;0.22	3.95	3.95	0.45737	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.85682	U	0.000000	T	0.66509	0.2796	L	0.34521	1.04	0.45227	D	0.998235	D	0.89917	1.0	D	0.97110	1.0	T	0.71464	-0.4585	10	0.72032	D	0.01	.	15.63	0.76899	0.0:0.0:1.0:0.0	.	55	Q9P218	COKA1_HUMAN	S	55	ENSP00000351767:G55S;ENSP00000323077:G55S;ENSP00000408690:G55S;ENSP00000414753:G55S	ENSP00000323077:G55S	G	+	1	0	COL20A1	61399787	1.000000	0.71417	0.930000	0.37139	0.011000	0.07611	5.557000	0.67313	1.761000	0.52028	0.591000	0.81541	GGC		0.642	COL20A1-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000144595.2	NM_020882		16	19	0	0	0	1	0	16	19					A	61929342	G	A	61929342	3	1	6	1	0	0	0	0	1	0	0	0	3679	1116	39	2	169	2	COL20A1	20	61929342	Missense_Mutation	SNP	G	TCGA-2A-A8W1-01A-11D-A377-08		61929342	1096178	32	221											
EPHA10	284656	broad.mit.edu	37	chr1	38192843	38192843	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgagatggtcactacggtgAcgacaatggcggggctctgg	8	7	16	10	4	2	2	1	1	1	1	2	4	2	2	1	6	1	1	1	6	2	1			TCGA-2A-A8W3-01A-11D-A377-08	TCGA-2A-A8W3-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8c4b6f6-86d6-48a2-bbfb-7b8da1493669	a7e479c1-0527-4958-9741-e038dcfc931f	g.chr1:38192843A>G	ENST00000373048.4	-	8	1702	c.1703T>C	c.(1702-1704)gTc>gCc	p.V568A	EPHA10_ENST00000427468.2_Missense_Mutation_p.V568A|EPHA10_ENST00000540011.1_Missense_Mutation_p.V63A|EPHA10_ENST00000446149.2_5'UTR|EPHA10_ENST00000330210.7_Missense_Mutation_p.V63A	NM_001099439.1	NP_001092909.1	Q5JZY3	EPHAA_HUMAN	EPH receptor A10	568					ephrin receptor signaling pathway (GO:0048013)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|transmembrane-ephrin receptor activity (GO:0005005)			NS(2)|breast(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(13)|prostate(3)|skin(8)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				CACTACGGTGACGACAATGGC	0.642																																						ENST00000373048.4																			0				NS(2)|breast(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(13)|prostate(3)|skin(8)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						c.(1702-1704)gTc>gCc		EPH receptor A10							54	69	64					1																	38192843		2068	4198	6266	SO:0001583	missense	284656					extracellular region|integral to membrane|integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding|transmembrane-ephrin receptor activity	g.chr1:38192843A>G	AK090974	CCDS425.1, CCDS41305.1	1p34.3	2013-02-11			ENSG00000183317	ENSG00000183317		"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	19987	protein-coding gene	gene with protein product		611123				12477932	Standard	NM_001099439		Approved	FLJ16103, FLJ33655	uc009vvi.3	Q5JZY3	OTTHUMG00000004325	ENST00000373048.4:c.1703T>C	1.37:g.38192843A>G	ENSP00000362139:p.Val568Ala					EPHA10_ENST00000330210.7_Missense_Mutation_p.V63A|EPHA10_ENST00000540011.1_Missense_Mutation_p.V63A|EPHA10_ENST00000446149.2_5'UTR|EPHA10_ENST00000427468.2_Missense_Mutation_p.V568A	p.V568A	NM_001099439.1	NP_001092909.1	Q5JZY3	EPHAA_HUMAN			8	1702	-	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)	568					A4FU89|J3KPB5|Q6NW42	Missense_Mutation	SNP	ENST00000373048.4	37	c.1703T>C	CCDS41305.1	.	.	.	.	.	.	.	.	.	.	A	13.82	2.351948	0.41700	.	.	ENSG00000183317	ENST00000330210;ENST00000427468;ENST00000540011;ENST00000373048	T;T;T;T	0.12879	2.64;2.64;2.64;2.64	4.75	3.6	0.41247	.	0.193433	0.25456	N	0.030553	T	0.15089	0.0364	M	0.68952	2.095	0.22896	N	0.998595	B	0.06786	0.001	B	0.06405	0.002	T	0.10660	-1.0620	10	0.54805	T	0.06	.	8.0763	0.30718	0.8953:0.0:0.1047:0.0	.	568	Q5JZY3	EPHAA_HUMAN	A	63;568;63;568	ENSP00000330379:V63A;ENSP00000397746:V568A;ENSP00000441822:V63A;ENSP00000362139:V568A	ENSP00000330379:V63A	V	-	2	0	EPHA10	37965430	1.000000	0.71417	0.997000	0.53966	0.879000	0.50718	4.741000	0.62095	1.997000	0.58415	0.379000	0.24179	GTC		0.642	EPHA10-003	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000012497.2	NM_173641		3	23	0	0	0	1	0	3	23					G	38192843	A	G	38192843	3	3	7	1	0	0	0	0	1	0	0	0	5166	275	10	4	1363	4	EPHA10	1	38192843	Missense_Mutation	SNP	A	TCGA-2A-A8W3-01A-11D-A377-08		38192843	211057778	1	222											
FAM151A	338094	broad.mit.edu	37	chr1	55075174	55075174	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catggcctgcatctggaaggAcacaggttgccagagcccct	9	7	12	13	0	1	1	0	0	1	1	1	3	1	3	4	4	3	2	4	4	1	1			TCGA-2A-A8W3-01A-11D-A377-08	TCGA-2A-A8W3-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8c4b6f6-86d6-48a2-bbfb-7b8da1493669	a7e479c1-0527-4958-9741-e038dcfc931f	g.chr1:55075174A>G	ENST00000302250.2	-	8	1685	c.1525T>C	c.(1525-1527)Tcc>Ccc	p.S509P	ACOT11_ENST00000481208.1_3'UTR|ACOT11_ENST00000371316.3_Intron|ACOT11_ENST00000343744.2_3'UTR|FAM151A_ENST00000371304.2_Missense_Mutation_p.S322P	NM_176782.2	NP_788954.2	Q8WW52	F151A_HUMAN	family with sequence similarity 151, member A	509						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	12						ATCTGGAAGGACACAGGTTGC	0.632																																						ENST00000302250.2																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	12						c.(1525-1527)Tcc>Ccc		family with sequence similarity 151, member A							73	73	73					1																	55075174		2203	4300	6503	SO:0001583	missense	338094					integral to membrane		g.chr1:55075174A>G	AK091901	CCDS594.1	1p32.3	2008-02-05	2007-12-18	2007-12-18	ENSG00000162391	ENSG00000162391			25032	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 179"	C1orf179		17273976	Standard	NM_176782		Approved	MGC27169	uc001cxn.3	Q8WW52	OTTHUMG00000009888	ENST00000302250.2:c.1525T>C	1.37:g.55075174A>G	ENSP00000306888:p.Ser509Pro					ACOT11_ENST00000371316.3_Intron|ACOT11_ENST00000481208.1_3'UTR|ACOT11_ENST00000343744.2_3'UTR|FAM151A_ENST00000371304.2_Missense_Mutation_p.S322P	p.S509P	NM_176782.2	NP_788954.2	Q8WW52	F151A_HUMAN			8	1685	-			509					Q5VUG5|Q6DKH5|Q6UWV0|Q8NAX9|Q96KY5	Missense_Mutation	SNP	ENST00000302250.2	37	c.1525T>C	CCDS594.1	.	.	.	.	.	.	.	.	.	.	A	19.74	3.883010	0.72410	.	.	ENSG00000162391	ENST00000302250;ENST00000294370	T	0.11712	2.75	4.17	4.17	0.49024	.	0.000000	0.64402	D	0.000002	T	0.29882	0.0747	M	0.74881	2.28	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	T	0.01639	-1.1306	10	0.34782	T	0.22	-37.4534	11.8376	0.52336	1.0:0.0:0.0:0.0	.	509	Q8WW52	F151A_HUMAN	P	509;322	ENSP00000306888:S509P	ENSP00000294370:S322P	S	-	1	0	FAM151A	54847762	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	5.721000	0.68477	2.108000	0.64289	0.533000	0.62120	TCC		0.632	FAM151A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027342.1	NM_176782		21	103	0	0	0	1	0	21	103					G	55075174	A	G	55075174	3	3	7	1	0	0	0	0	1	0	0	0	5458	275	10	4	236	4	FAM151A	1	55075174	Missense_Mutation	SNP	A	TCGA-2A-A8W3-01A-11D-A377-08	16882331	55075174	194175447	2	223											
ATP1A2	477	broad.mit.edu	37	chr1	160093053	160093053	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctggctcgagatgggcccaaCgccctcacaccacctcccac	8	5	8	20	2	1	1	1	0	0	1	3	2	2	1	5	2	1	1	5	2	1	0	rs201540165	byFrequency	TCGA-2A-A8W3-01A-11D-A377-08	TCGA-2A-A8W3-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8c4b6f6-86d6-48a2-bbfb-7b8da1493669	a7e479c1-0527-4958-9741-e038dcfc931f	g.chr1:160093053C>T	ENST00000361216.3	+	4	317	c.228C>T	c.(226-228)aaC>aaT	p.N76N	ATP1A2_ENST00000392233.3_Silent_p.N76N	NM_000702.3	NP_000693.1	P50993	AT1A2_HUMAN	ATPase, Na+/K+ transporting, alpha 2 polypeptide	76					adult locomotory behavior (GO:0008344)|ATP biosynthetic process (GO:0006754)|ATP hydrolysis coupled proton transport (GO:0015991)|cardiac muscle contraction (GO:0060048)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular potassium ion homeostasis (GO:0030007)|cellular response to mechanical stimulus (GO:0071260)|cellular response to steroid hormone stimulus (GO:0071383)|cellular sodium ion homeostasis (GO:0006883)|ion transmembrane transport (GO:0034220)|locomotion (GO:0040011)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|negative regulation of heart contraction (GO:0045822)|negative regulation of striated muscle contraction (GO:0045988)|neurotransmitter uptake (GO:0001504)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|regulation of smooth muscle contraction (GO:0006940)|regulation of striated muscle contraction (GO:0006942)|regulation of the force of heart contraction (GO:0002026)|regulation of vasoconstriction (GO:0019229)|relaxation of cardiac muscle (GO:0055119)|response to nicotine (GO:0035094)|sodium ion export from cell (GO:0036376)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|visual learning (GO:0008542)	caveola (GO:0005901)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|endosome (GO:0005768)|plasma membrane (GO:0005886)|sodium:potassium-exchanging ATPase complex (GO:0005890)|synapse (GO:0045202)|T-tubule (GO:0030315)|vesicle (GO:0031982)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|metal ion binding (GO:0046872)|sodium:potassium-exchanging ATPase activity (GO:0005391)|steroid hormone binding (GO:1990239)			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(30)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	69	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			ATGGGCCCAACGCCCTCACAC	0.637													c|||	2	0.000399361	0	0	5008	,	,		18802	0.001		0.001	False		,,,				2504	0					ENST00000361216.3																			0				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(30)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	69						c.(226-228)aaC>aaT		ATPase, Na+/K+ transporting, alpha 2 polypeptide							130	127	128					1																	160093053		2203	4300	6503	SO:0001819	synonymous_variant	477				ATP biosynthetic process		ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity	g.chr1:160093053C>T	AB018321	CCDS1196.1	1q23.2	2014-09-17	2010-04-20		ENSG00000018625	ENSG00000018625	3.6.3.9	"ATPases / P-type"	800	protein-coding gene	gene with protein product	"sodium/potassium-transporting ATPase subunit alpha-2", "sodium pump subunit alpha-2", "sodium-potassium ATPase catalytic subunit alpha-2"	182340	"migraine, hemiplegic 2", "ATPase, Na+/K+ transporting, alpha 2 (+) polypeptide"	MHP2		9403481	Standard	NM_000702		Approved	FHM2	uc001fvc.3	P50993	OTTHUMG00000024080	ENST00000361216.3:c.228C>T	1.37:g.160093053C>T						ATP1A2_ENST00000392233.3_Silent_p.N76N|ATP1A2_ENST00000472488.1_3'UTR	p.N76N	NM_000702.3	NP_000693.1	P50993	AT1A2_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)		4	317	+	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		76					D3DVE4|Q07059|Q5JW74|Q86UZ5|Q9UQ25	Silent	SNP	ENST00000361216.3	37	c.228C>T	CCDS1196.1																																																																																				0.637	ATP1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060642.2	NM_000702		29	106	0	0	0	1	0	29	106					T	160093053	C	T	160093053	2	4	7	1	0	0	0	0	0	0	0	1	1129	535	19	1		1	ATP1A2	1	160093053	Silent	SNP	C	TCGA-2A-A8W3-01A-11D-A377-08	105017879	160093053	89157568	3	224											
SYT14	255928	broad.mit.edu	37	chr1	210334143	210334143	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caaatgcaagacatccatccGcagagggcagccaaatccag	15	4	9	13	1	0	2	0	0	0	2	3	2	3	2	4	1	2	3	4	1	3	0	rs186906124	byFrequency	TCGA-2A-A8W3-01A-11D-A377-08	TCGA-2A-A8W3-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8c4b6f6-86d6-48a2-bbfb-7b8da1493669	a7e479c1-0527-4958-9741-e038dcfc931f	g.chr1:210334143G>A	ENST00000472886.1	+	8	1438	c.1424G>A	c.(1423-1425)cGc>cAc	p.R475H	SYT14_ENST00000367015.1_Missense_Mutation_p.R437H|SYT14_ENST00000422431.1_Missense_Mutation_p.R539H|SYT14_ENST00000537238.1_Missense_Mutation_p.R437H|SYT14_ENST00000271745.7_3'UTR|SYT14_ENST00000367019.1_Missense_Mutation_p.R494H|SYT14_ENST00000534859.1_Missense_Mutation_p.R501H|SYT14_ENST00000399639.2_3'UTR			Q8NB59	SYT14_HUMAN	synaptotagmin XIV	475	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				cell death (GO:0008219)	integral component of membrane (GO:0016021)	phospholipid binding (GO:0005543)			endometrium(4)|large_intestine(11)|lung(17)|ovary(1)|prostate(1)|skin(3)	37				OV - Ovarian serous cystadenocarcinoma(81;0.085)		ACATCCATCCGCAGAGGGCAG	0.378													G|||	6	0.00119808	0	0.0014	5008	,	,		17469	0		0.001	False		,,,				2504	0.0041					ENST00000537238.1																			0				endometrium(4)|large_intestine(11)|lung(17)|ovary(1)|prostate(1)|skin(3)	37						c.(1309-1311)cGc>cAc		synaptotagmin XIV							111	115	114					1																	210334143		2203	4299	6502	SO:0001583	missense	255928					integral to membrane		g.chr1:210334143G>A	AK091517	CCDS31014.1, CCDS53470.1, CCDS58058.1	1q32.2	2013-01-21			ENSG00000143469	ENSG00000143469		"Synaptotagmins"	23143	protein-coding gene	gene with protein product		610949					Standard	NM_001256006		Approved	sytXIV, FLJ34198	uc001hhs.5	Q8NB59	OTTHUMG00000036652	ENST00000472886.1:c.1424G>A	1.37:g.210334143G>A	ENSP00000418901:p.Arg475His					SYT14_ENST00000534859.1_Missense_Mutation_p.R501H|SYT14_ENST00000399639.2_3'UTR|SYT14_ENST00000367015.1_Missense_Mutation_p.R437H|SYT14_ENST00000367019.1_Missense_Mutation_p.R494H|SYT14_ENST00000472886.1_Missense_Mutation_p.R475H|SYT14_ENST00000422431.1_Missense_Mutation_p.R539H|SYT14_ENST00000271745.7_3'UTR	p.R437H	NM_001256006.1|NM_153262.3	NP_001242935.1|NP_694994.2	Q8NB59	SYT14_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.085)	9	1701	+			475			C2 2.		B1AJU0|B1AJU1|F5H426|Q5THX7|Q707N3|Q707N4|Q707N5|Q707N6|Q707N7	Missense_Mutation	SNP	ENST00000472886.1	37	c.1310G>A	CCDS31014.1	3	0.0013736263736263737	0	0.0	2	0.0055248618784530384	0	0.0	1	0.0013192612137203166	G	18.66	3.671538	0.67814	.	.	ENSG00000143469	ENST00000422431;ENST00000534859;ENST00000537238;ENST00000367019;ENST00000472886;ENST00000367015	T;T;T;T;T;T	0.71817	-0.6;-0.6;-0.6;-0.6;-0.6;-0.6	5.84	4.93	0.64822	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.128347	0.64402	D	0.000019	T	0.71400	0.3335	L	0.56280	1.765	0.53688	D	0.999975	D;P;D;D	0.64830	0.991;0.948;0.994;0.994	P;P;P;P	0.57204	0.802;0.625;0.809;0.815	T	0.77846	-0.2436	10	0.72032	D	0.01	-6.4563	14.9161	0.70798	0.0688:0.0:0.9312:0.0	.	522;475;494;539	A1L3Y1;Q8NB59;Q8NB59-6;F5H426	.;SYT14_HUMAN;.;.	H	539;501;437;494;475;437	ENSP00000389039:R539H;ENSP00000442891:R501H;ENSP00000437423:R437H;ENSP00000355986:R494H;ENSP00000418901:R475H;ENSP00000355982:R437H	ENSP00000355982:R437H	R	+	2	0	SYT14	208400766	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	9.394000	0.97261	1.472000	0.48140	-0.237000	0.12165	CGC		0.378	SYT14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089124.1	NM_153262		13	65	0	0	0	1	0	13	65					A	210334143	G	A	210334143	3	1	7	1	0	0	0	0	1	0	0	0	15467	1087	38	1	1654	1	SYT14	1	210334143	Missense_Mutation	SNP	G	TCGA-2A-A8W3-01A-11D-A377-08	50241090	210334143	38916478	4	225											
CCT4	10575	broad.mit.edu	37	chr2	62099698	62099698	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gaacaacaattgtaactgttTttccagggctggcacagcct	11	11	9	10	0	0	0	0	0	0	0	1	1	1	0	2	2	4	4	2	2	4	4			TCGA-2A-A8W3-01A-11D-A377-08	TCGA-2A-A8W3-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8c4b6f6-86d6-48a2-bbfb-7b8da1493669	a7e479c1-0527-4958-9741-e038dcfc931f	g.chr2:62099698T>C	ENST00000394440.3	-	11	1447	c.1151A>G	c.(1150-1152)aAa>aGa	p.K384R	AC107081.5_ENST00000425779.1_RNA|CCT4_ENST00000538252.1_Missense_Mutation_p.K328R|CCT4_ENST00000544185.1_Missense_Mutation_p.K234R|CCT4_ENST00000544079.1_Missense_Mutation_p.K354R|CCT4_ENST00000461540.2_Intron	NM_006430.3	NP_006421.2	P50991	TCPD_HUMAN	chaperonin containing TCP1, subunit 4 (delta)	384					'de novo' posttranslational protein folding (GO:0051084)|binding of sperm to zona pellucida (GO:0007339)|cellular protein metabolic process (GO:0044267)|protein folding (GO:0006457)	cell body (GO:0044297)|centrosome (GO:0005813)|chaperonin-containing T-complex (GO:0005832)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|nucleus (GO:0005634)|zona pellucida receptor complex (GO:0002199)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|unfolded protein binding (GO:0051082)			breast(1)|large_intestine(2)|lung(6)|ovary(2)	11	Lung NSC(7;0.035)|all_lung(7;0.0691)		LUSC - Lung squamous cell carcinoma(7;6.5e-06)|Epithelial(17;0.0647)|all cancers(80;0.221)			TGTAACTGTTTTTCCAGGGCT	0.448																																						ENST00000394440.3																			0				breast(1)|large_intestine(2)|lung(6)|ovary(2)	11						c.(1150-1152)aAa>aGa		chaperonin containing TCP1, subunit 4 (delta)							67	65	65					2																	62099698		2203	4300	6503	SO:0001583	missense	10575				'de novo' posttranslational protein folding	melanosome|microtubule organizing center|nucleus	ATP binding|unfolded protein binding	g.chr2:62099698T>C		CCDS33206.1, CCDS58711.1	2p15	2011-09-02			ENSG00000115484	ENSG00000115484		"Heat Shock Proteins / Chaperonins"	1617	protein-coding gene	gene with protein product		605142				9819444	Standard	NM_001256721		Approved	Cctd	uc002sbo.4	P50991	OTTHUMG00000152166	ENST00000394440.3:c.1151A>G	2.37:g.62099698T>C	ENSP00000377958:p.Lys384Arg					CCT4_ENST00000538252.1_Missense_Mutation_p.K328R|CCT4_ENST00000461540.2_Intron|CCT4_ENST00000544185.1_Missense_Mutation_p.K234R|AC107081.5_ENST00000425779.1_RNA|CCT4_ENST00000544079.1_Missense_Mutation_p.K354R	p.K384R	NM_006430.3	NP_006421.2	P50991	TCPD_HUMAN	LUSC - Lung squamous cell carcinoma(7;6.5e-06)|Epithelial(17;0.0647)|all cancers(80;0.221)		11	1447	-	Lung NSC(7;0.035)|all_lung(7;0.0691)		384					B2R6I3|B7Z8B1|F5H5W3|O14870|Q53QP9|Q96C51	Missense_Mutation	SNP	ENST00000394440.3	37	c.1151A>G	CCDS33206.1	.	.	.	.	.	.	.	.	.	.	T	12.30	1.896191	0.33442	.	.	ENSG00000115484	ENST00000394440;ENST00000544079;ENST00000544185;ENST00000538252	T;T;T;T	0.80123	-1.34;-1.34;-1.34;-1.34	5.87	4.72	0.59763	.	0.041023	0.85682	D	0.000000	T	0.69726	0.3143	L	0.28694	0.88	0.58432	D	0.999996	B;B	0.06786	0.001;0.001	B;B	0.13407	0.009;0.005	T	0.62632	-0.6813	10	0.27785	T	0.31	-15.3401	11.8293	0.52285	0.0:0.0689:0.0:0.9311	.	354;384	F5H5W3;P50991	.;TCPD_HUMAN	R	384;354;234;328	ENSP00000377958:K384R;ENSP00000443061:K354R;ENSP00000443451:K234R;ENSP00000442174:K328R	ENSP00000377958:K384R	K	-	2	0	CCT4	61953202	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.993000	0.63895	1.158000	0.42547	0.533000	0.62120	AAA		0.448	CCT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325548.2			14	42	0	0	0	1	0	14	42					C	62099698	T	C	62099698	3	2	7	1	0	0	0	0	1	0	0	0	2955	1841	64	4	484	4	CCT4	2	62099698	Missense_Mutation	SNP	T	TCGA-2A-A8W3-01A-11D-A377-08		62099698	181099675	5	226											
ALMS1	7840	broad.mit.edu	37	chr2	73835695	73835696	+	Frame_Shift_Ins	INS	-	-	A																															ggctgcgagcccagctatatINSaaaaaggtcagtgggtcctc																										TCGA-2A-A8W3-01A-11D-A377-08	TCGA-2A-A8W3-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8c4b6f6-86d6-48a2-bbfb-7b8da1493669	a7e479c1-0527-4958-9741-e038dcfc931f	g.chr2:73835695_73835696insA	ENST00000264448.6	+	22	12564_12565	c.12453_12454insA	c.(12454-12456)aaafs	p.K4152fs	ALMS1_ENST00000409009.1_Frame_Shift_Ins_p.K4110fs	NM_015120.4	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	4152	ALMS motif.				endosomal transport (GO:0016197)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of stress fiber assembly (GO:0051492)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						CCCAGCTATATAAAAAGGTCAG	0.426																																						ENST00000264448.6																			0				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						c.(12451-12456)taaaaafs		Alstrom syndrome 1																																				SO:0001589	frameshift_variant	7840				G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole		g.chr2:73835695_73835696insA	AB002326	CCDS42697.1	2p13.1	2014-09-17			ENSG00000116127	ENSG00000116127			428	protein-coding gene	gene with protein product		606844				9063741	Standard	NM_015120		Approved	KIAA0328	uc002sje.1	Q8TCU4	OTTHUMG00000152812	ENST00000264448.6:c.12458dupA	2.37:g.73835700_73835700dupA	ENSP00000264448:p.Lys4152fs					ALMS1_ENST00000409009.1_Frame_Shift_Ins_p.*K4109fs	p.*K4151fs	NM_015120.4	NP_055935.4	Q8TCU4	ALMS1_HUMAN			22	12564_12565	+			4151					Q53S05|Q580Q8|Q86VP9|Q9Y4G4	Frame_Shift_Ins	INS	ENST00000264448.6	37	c.12453_12454insA	CCDS42697.1																																																																																				0.426	ALMS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000327776.1	NM_015120		7	25						7	25	---	---	---	---	A	73835696	-	A	73835695	7	5	7	1	0	1	1	0	0	0	0	0	535	1413	49	0	12539	0	ALMS1	2	73835695	Frame_Shift_Ins	INS	-	TCGA-2A-A8W3-01A-11D-A377-08	11735997	73835695	169363678	6	227											
COL5A2	1290	broad.mit.edu	37	chr2	189909928	189909928	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	taatccacgtttcccagctcGaccaggtggtcctataggac	9	10	9	13	2	0	0	0	0	0	0	4	2	3	1	4	3	1	2	4	3	3	4			TCGA-2A-A8W3-01A-11D-A377-08	TCGA-2A-A8W3-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8c4b6f6-86d6-48a2-bbfb-7b8da1493669	a7e479c1-0527-4958-9741-e038dcfc931f	g.chr2:189909928G>A	ENST00000374866.3	-	47	3614	c.3340C>T	c.(3340-3342)Cga>Tga	p.R1114*		NM_000393.3	NP_000384.2	P05997	CO5A2_HUMAN	collagen, type V, alpha 2	1114					axon guidance (GO:0007411)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|eye morphogenesis (GO:0048592)|negative regulation of endodermal cell differentiation (GO:1903225)|skeletal system development (GO:0001501)|skin development (GO:0043588)	collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)			NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			TTCCCAGCTCGACCAGGTGGT	0.303																																						ENST00000374866.3																			0				NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95						c.(3340-3342)Cga>Tga		collagen, type V, alpha 2							29	32	31					2																	189909928		2202	4299	6501	SO:0001587	stop_gained	1290				axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent	g.chr2:189909928G>A	Y14690	CCDS33350.1	2q14-q32	2014-09-17			ENSG00000204262	ENSG00000204262		"Collagens"	2210	protein-coding gene	gene with protein product	"AB collagen"	120190				1572660	Standard	NM_000393		Approved		uc002uqk.3	P05997	OTTHUMG00000149842	ENST00000374866.3:c.3340C>T	2.37:g.189909928G>A	ENSP00000364000:p.Arg1114*						p.R1114*	NM_000393.3	NP_000384.2	P05997	CO5A2_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)		47	3614	-			1114					P78440|Q13908|Q53WR4|Q59GR4|Q6LDJ5|Q7KZ55|Q86XF6|Q96QB0|Q96QB3	Nonsense_Mutation	SNP	ENST00000374866.3	37	c.3340C>T	CCDS33350.1	.	.	.	.	.	.	.	.	.	.	G	43	10.194554	0.99357	.	.	ENSG00000204262	ENST00000374866;ENST00000452536	.	.	.	5.74	1.65	0.23941	.	0.000000	0.42682	D	0.000667	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.14252	T	0.57	.	13.5107	0.61511	0.0:0.0:0.4589:0.5411	.	.	.	.	X	1114;754	.	ENSP00000364000:R1114X	R	-	1	2	COL5A2	189618173	0.862000	0.29867	1.000000	0.80357	0.998000	0.95712	1.145000	0.31577	0.331000	0.23511	0.655000	0.94253	CGA		0.303	COL5A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313523.1	NM_000393		7	28	0	0	0	1	0	7	28					A	189909928	G	A	189909928	4	1	7	1	0	0	0	0	0	1	0	0	3697	1066	37	2	1191	2	COL5A2	2	189909928	Nonsense_Mutation	SNP	G	TCGA-2A-A8W3-01A-11D-A377-08	116074233	189909928	53289445	7	228											
COL6A3	1293	broad.mit.edu	37	chr2	238283426	238283426	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ccccggtgttgggggtcggcCctcccagcagggtcagctgg	3	7	17	14	2	1	0	1	0	0	0	3	0	2	0	4	6	2	3	4	6	0	1			TCGA-2A-A8W3-01A-11D-A377-08	TCGA-2A-A8W3-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8c4b6f6-86d6-48a2-bbfb-7b8da1493669	a7e479c1-0527-4958-9741-e038dcfc931f	g.chr2:238283426C>T	ENST00000295550.4	-	8	3760	c.3308G>A	c.(3307-3309)gGg>gAg	p.G1103E	COL6A3_ENST00000472056.1_Missense_Mutation_p.G496E|COL6A3_ENST00000409809.1_Missense_Mutation_p.G897E|COL6A3_ENST00000346358.4_Missense_Mutation_p.G903E|COL6A3_ENST00000392003.2_Missense_Mutation_p.G696E|COL6A3_ENST00000347401.3_Missense_Mutation_p.G902E|COL6A3_ENST00000353578.4_Missense_Mutation_p.G897E|COL6A3_ENST00000392004.3_Missense_Mutation_p.G897E	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	1103	Nonhelical region.|VWFA 6. {ECO:0000255|PROSITE- ProRule:PRU00219}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|response to glucose (GO:0009749)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		GGGGGTCGGCCCTCCCAGCAG	0.617																																						ENST00000295550.4																			0				breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217						c.(3307-3309)gGg>gAg		collagen, type VI, alpha 3							54	55	55					2																	238283426		2203	4300	6503	SO:0001583	missense	1293				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity	g.chr2:238283426C>T	X52022	CCDS33409.1, CCDS33410.1, CCDS33411.1, CCDS33412.1, CCDS33410.2, CCDS33411.2, CCDS54439.1	2q37	2014-09-17			ENSG00000163359	ENSG00000163359		"Collagens"	2213	protein-coding gene	gene with protein product		120250				1339440, 11992252	Standard	NM_004369		Approved		uc002vwl.2	P12111	OTTHUMG00000150020	ENST00000295550.4:c.3308G>A	2.37:g.238283426C>T	ENSP00000295550:p.Gly1103Glu					COL6A3_ENST00000409809.1_Missense_Mutation_p.G897E|COL6A3_ENST00000472056.1_Missense_Mutation_p.G496E|COL6A3_ENST00000353578.4_Missense_Mutation_p.G897E|COL6A3_ENST00000347401.3_Missense_Mutation_p.G902E|COL6A3_ENST00000346358.4_Missense_Mutation_p.G903E|COL6A3_ENST00000392003.2_Missense_Mutation_p.G696E|COL6A3_ENST00000392004.3_Missense_Mutation_p.G897E	p.G1103E	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)	8	3760	-		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)	1103			Nonhelical region.|VWFA 6.		A8MT30|B4E3U5|B7ZMJ7|E9PFQ6|E9PGQ9|Q16501|Q53QF4|Q53QF6	Missense_Mutation	SNP	ENST00000295550.4	37	c.3308G>A	CCDS33412.1	.	.	.	.	.	.	.	.	.	.	C	16.26	3.073269	0.55646	.	.	ENSG00000163359	ENST00000295550;ENST00000347401;ENST00000353578;ENST00000472056;ENST00000409809;ENST00000346358;ENST00000392004;ENST00000392003	T;T;T;T;T;T;T;T	0.61510	0.1;0.1;0.1;0.1;0.1;0.1;0.1;0.1	5.22	4.34	0.51931	von Willebrand factor, type A (3);	0.262720	0.27901	N	0.017389	T	0.78742	0.4331	M	0.88181	2.935	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;0.999	D;D;D;D;D	0.97110	1.0;1.0;0.997;1.0;0.989	T	0.82065	-0.0642	10	0.52906	T	0.07	.	13.8331	0.63393	0.0:0.9265:0.0:0.0735	.	496;696;897;897;1103	E9PFQ6;A8MT30;E9PGQ9;P12111-2;P12111	.;.;.;.;CO6A3_HUMAN	E	1103;902;897;496;897;903;897;696	ENSP00000295550:G1103E;ENSP00000315609:G902E;ENSP00000315873:G897E;ENSP00000418285:G496E;ENSP00000386844:G897E;ENSP00000295546:G903E;ENSP00000375861:G897E;ENSP00000375860:G696E	ENSP00000295550:G1103E	G	-	2	0	COL6A3	237948165	1.000000	0.71417	0.016000	0.15963	0.139000	0.21198	7.591000	0.82666	1.324000	0.45282	0.655000	0.94253	GGG		0.617	COL6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315790.2	NM_004369		15	37	0	0	0	1	0	15	37					T	238283426	C	T	238283426	3	4	7	1	0	0	0	0	1	0	0	0	3701	623	22	3	6420	3	COL6A3	2	238283426	Missense_Mutation	SNP	C	TCGA-2A-A8W3-01A-11D-A377-08	48373498	238283426	4915947	8	229											
CNTN6	27255	broad.mit.edu	37	chr3	1367541	1367541	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aatccaaaatacacacctctCtatctatgacaacttgctct	14	12	2	13	0	3	1	0	1	3	0	5	1	4	1	2	0	3	1	2	0	7	4	rs150393896		TCGA-2A-A8W3-01A-11D-A377-08	TCGA-2A-A8W3-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8c4b6f6-86d6-48a2-bbfb-7b8da1493669	a7e479c1-0527-4958-9741-e038dcfc931f	g.chr3:1367541C>T	ENST00000446702.2	+	9	1616	c.989C>T	c.(988-990)tCt>tTt	p.S330F	CNTN6_ENST00000350110.2_Missense_Mutation_p.S330F|CNTN6_ENST00000539053.1_Missense_Mutation_p.S258F			Q9UQ52	CNTN6_HUMAN	contactin 6	330	Ig-like C2-type 4.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|central nervous system development (GO:0007417)|Notch signaling pathway (GO:0007219)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		all_cancers(2;0.000164)|all_epithelial(2;0.107)		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)		ACACACCTCTCTATCTATGAC	0.418																																						ENST00000446702.2																			0				breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90						c.(988-990)tCt>tTt		contactin 6							122	113	116					3																	1367541		2203	4300	6503	SO:0001583	missense	27255				axon guidance|cell adhesion|central nervous system development|Notch signaling pathway	anchored to membrane|plasma membrane		g.chr3:1367541C>T	AB003592	CCDS2557.1	3p26-p25	2013-02-11			ENSG00000134115	ENSG00000134115		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	2176	protein-coding gene	gene with protein product	"neural adhesion molecule"	607220				9486763	Standard	NM_014461		Approved	NB-3	uc003bpa.3	Q9UQ52	OTTHUMG00000119030	ENST00000446702.2:c.989C>T	3.37:g.1367541C>T	ENSP00000407822:p.Ser330Phe					CNTN6_ENST00000539053.1_Missense_Mutation_p.S258F|CNTN6_ENST00000350110.2_Missense_Mutation_p.S330F	p.S330F			Q9UQ52	CNTN6_HUMAN		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)	9	1616	+		all_cancers(2;0.000164)|all_epithelial(2;0.107)	330			Ig-like C2-type 4.		Q2KHM2	Missense_Mutation	SNP	ENST00000446702.2	37	c.989C>T	CCDS2557.1	.	.	.	.	.	.	.	.	.	.	C	20.5	4.008739	0.75046	.	.	ENSG00000134115	ENST00000446702;ENST00000539053;ENST00000350110	T;T;T	0.69685	-0.42;-0.42;-0.42	5.26	5.26	0.73747	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);	0.000000	0.53938	D	0.000041	T	0.72558	0.3475	N	0.24115	0.695	0.40861	D	0.983834	D	0.76494	0.999	D	0.87578	0.998	T	0.76942	-0.2772	10	0.66056	D	0.02	.	17.0749	0.86583	0.0:1.0:0.0:0.0	.	330	Q9UQ52	CNTN6_HUMAN	F	330;258;330	ENSP00000407822:S330F;ENSP00000442791:S258F;ENSP00000341882:S330F	ENSP00000341882:S330F	S	+	2	0	CNTN6	1342541	1.000000	0.71417	0.998000	0.56505	0.986000	0.74619	5.274000	0.65569	2.460000	0.83146	0.650000	0.86243	TCT		0.418	CNTN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239235.2	NM_014461		12	62	0	0	0	1	0	12	62					T	1367541	C	T	1367541	3	4	7	1	0	0	0	0	1	0	0	0	3645	913	32	3	1019	3	CNTN6	3	1367541	Missense_Mutation	SNP	C	TCGA-2A-A8W3-01A-11D-A377-08		1367541	196654889	9	230											
SRGAP3	9901	broad.mit.edu	37	chr3	9055452	9055452	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	agcgaagaggtatctcatgaCcacaatgaccacgcggggaa	14	5	12	10	3	1	3	1	2	1	1	2	5	1	4	2	3	1	1	2	3	4	1			TCGA-2A-A8W3-01A-11D-A377-08	TCGA-2A-A8W3-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8c4b6f6-86d6-48a2-bbfb-7b8da1493669	a7e479c1-0527-4958-9741-e038dcfc931f	g.chr3:9055452C>T	ENST00000383836.3	-	16	2315	c.1888G>A	c.(1888-1890)Gtc>Atc	p.V630I	SRGAP3-AS1_ENST00000414633.1_RNA|SRGAP3_ENST00000360413.3_Missense_Mutation_p.V606I|SRGAP3_ENST00000433332.3_5'Flank	NM_014850.3	NP_055665.1	O43295	SRGP3_HUMAN	SLIT-ROBO Rho GTPase activating protein 3	630	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)		SRGAP3/RAF1(6)	breast(1)|endometrium(2)|kidney(21)|large_intestine(7)|lung(13)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	54				OV - Ovarian serous cystadenocarcinoma(96;0.0563)		TATCTCATGACCACAATGACC	0.557			T	RAF1	pilocytic astrocytoma																																	ENST00000383836.3				Dom	yes		3	3p25.3	9901	T	SLIT-ROBO Rho GTPase activating protein 3			M	RAF1		pilocytic astrocytoma	SRGAP3/RAF1(6)	0				breast(1)|endometrium(2)|kidney(21)|large_intestine(7)|lung(13)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	54						c.(1888-1890)Gtc>Atc		SLIT-ROBO Rho GTPase activating protein 3							149	137	141					3																	9055452		2203	4300	6503	SO:0001583	missense	9901				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding	g.chr3:9055452C>T	AB007871	CCDS2572.1, CCDS33689.1	3p25.3	2011-07-04	2004-11-12	2004-11-12	ENSG00000196220	ENSG00000196220		"Rho GTPase activating proteins"	19744	protein-coding gene	gene with protein product		606525	"SLIT-ROBO Rho GTPase activating protein 2"	SRGAP2		12195014	Standard	NM_014850		Approved	KIAA0411, MEGAP, WRP, ARHGAP14	uc003brf.2	O43295	OTTHUMG00000090589	ENST00000383836.3:c.1888G>A	3.37:g.9055452C>T	ENSP00000373347:p.Val630Ile					SRGAP3_ENST00000360413.3_Missense_Mutation_p.V606I	p.V630I	NM_014850.3	NP_055665.1	O43295	SRGP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(96;0.0563)	16	2315	-			630			Rho-GAP.		Q8IX13|Q8IZV8	Missense_Mutation	SNP	ENST00000383836.3	37	c.1888G>A	CCDS2572.1	.	.	.	.	.	.	.	.	.	.	C	25.2	4.613670	0.87359	.	.	ENSG00000196220	ENST00000383836;ENST00000360413	T;T	0.19394	2.15;2.15	5.26	5.26	0.73747	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	0.000000	0.85682	D	0.000000	T	0.35068	0.0919	L	0.40543	1.245	0.80722	D	1	P;P	0.37276	0.589;0.484	P;P	0.53185	0.598;0.72	T	0.02244	-1.1189	10	0.33141	T	0.24	.	18.4861	0.90830	0.0:1.0:0.0:0.0	.	606;630	O43295-2;O43295	.;SRGP2_HUMAN	I	630;606	ENSP00000373347:V630I;ENSP00000353587:V606I	ENSP00000353587:V606I	V	-	1	0	SRGAP3	9030452	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.770000	0.85390	2.465000	0.83290	0.655000	0.94253	GTC		0.557	SRGAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207137.3			8	42	0	0	0	1	0	8	42					T	9055452	C	T	9055452	3	4	7	1	0	0	0	0	1	0	0	0	15146	507	18	3	1439	3	SRGAP3	3	9055452	Missense_Mutation	SNP	C	TCGA-2A-A8W3-01A-11D-A377-08	7687911	9055452	188966978	10	231											
DNAJC13	23317	broad.mit.edu	37	chr3	132196704	132196704	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agattactattggaggaagaTgagaatgaagaaagtggatc	17	9	13	2	0	0	5	0	2	0	4	1	9	0	8	0	3	1	0	0	3	6	3			TCGA-2A-A8W3-01A-11D-A377-08	TCGA-2A-A8W3-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8c4b6f6-86d6-48a2-bbfb-7b8da1493669	a7e479c1-0527-4958-9741-e038dcfc931f	g.chr3:132196704T>A	ENST00000260818.6	+	23	2765	c.2517T>A	c.(2515-2517)gaT>gaA	p.D839E		NM_015268.3	NP_056083.3	O75165	DJC13_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 13	839					osteoblast differentiation (GO:0001649)	extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)				breast(4)|endometrium(2)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|urinary_tract(1)	34						TGGAGGAAGATGAGAATGAAG	0.348																																						ENST00000260818.6																			0				breast(4)|endometrium(2)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|urinary_tract(1)	34						c.(2515-2517)gaT>gaA		DnaJ (Hsp40) homolog, subfamily C, member 13							102	112	108					3																	132196704		2203	4299	6502	SO:0001583	missense	23317						heat shock protein binding	g.chr3:132196704T>A	AB014578	CCDS33857.1	3q22.1	2011-09-02			ENSG00000138246	ENSG00000138246		"Heat shock proteins / DNAJ (HSP40)"	30343	protein-coding gene	gene with protein product		614334				12438707	Standard	NM_015268		Approved	RME8, KIAA0678	uc003eor.3	O75165	OTTHUMG00000159674	ENST00000260818.6:c.2517T>A	3.37:g.132196704T>A	ENSP00000260818:p.Asp839Glu						p.D839E	NM_015268.3	NP_056083.3	O75165	DJC13_HUMAN			23	2765	+			839					Q3L0T1|Q6PI82|Q6UJ77|Q6ZSW1|Q6ZUT5|Q86XG3|Q96DC1|Q9BWK9	Missense_Mutation	SNP	ENST00000260818.6	37	c.2517T>A	CCDS33857.1	.	.	.	.	.	.	.	.	.	.	T	16.59	3.165253	0.57476	.	.	ENSG00000138246	ENST00000260818	T	0.12465	2.68	5.26	5.26	0.73747	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.12050	0.0293	L	0.27053	0.805	0.58432	D	0.999998	B	0.21452	0.056	B	0.15870	0.014	T	0.04565	-1.0942	10	0.72032	D	0.01	.	15.4676	0.75412	0.0:0.0:0.0:1.0	.	839	O75165	DJC13_HUMAN	E	839	ENSP00000260818:D839E	ENSP00000260818:D839E	D	+	3	2	DNAJC13	133679394	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.333000	0.33816	2.110000	0.64415	0.377000	0.23210	GAT		0.348	DNAJC13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356807.2	NM_015268		17	104	0	0	0	1	0	17	104					A	132196704	T	A	132196704	3	1	7	1	0	0	0	0	1	0	0	0	4632	1461	51	5	2603	5	DNAJC13	3	132196704	Missense_Mutation	SNP	T	TCGA-2A-A8W3-01A-11D-A377-08	123141252	132196704	65825726	11	232											
ATP8A1	10396	broad.mit.edu	37	chr4	42576684	42576684	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcttaaactgcattacattgCatgtcagagtaccagttttg	11	15	7	8	0	2	1	1	0	1	1	2	1	2	1	1	0	5	4	1	0	4	6			TCGA-2A-A8W3-01A-11D-A377-08	TCGA-2A-A8W3-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8c4b6f6-86d6-48a2-bbfb-7b8da1493669	a7e479c1-0527-4958-9741-e038dcfc931f	g.chr4:42576684C>T	ENST00000381668.5	-	14	1478	c.1247G>A	c.(1246-1248)tGc>tAc	p.C416Y	ATP8A1_ENST00000264449.10_Missense_Mutation_p.C416Y	NM_006095.2	NP_006086.1	Q9Y2Q0	AT8A1_HUMAN	ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1	416					cation transmembrane transport (GO:0098655)|ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|transmembrane transport (GO:0055085)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	51					Phosphatidylserine(DB00144)	CATTACATTGCATGTCAGAGT	0.308																																						ENST00000381668.5																			0				NS(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	51						c.(1246-1248)tGc>tAc		ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1	Phosphatidylserine(DB00144)						59	60	60					4																	42576684		2203	4299	6502	SO:0001583	missense	10396				ATP biosynthetic process	chromaffin granule membrane|integral to membrane|plasma membrane	aminophospholipid transporter activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr4:42576684C>T	AF067820	CCDS3466.1, CCDS47049.1	4p13	2010-04-20	2007-09-19		ENSG00000124406	ENSG00000124406		"ATPases / P-type"	13531	protein-coding gene	gene with protein product		609542	"ATPase, aminophospholipid transporter (APLT), Class I, type 8A, member 1"			10198212, 9548971	Standard	NM_006095		Approved	ATPIA	uc003gwr.2	Q9Y2Q0	OTTHUMG00000099403	ENST00000381668.5:c.1247G>A	4.37:g.42576684C>T	ENSP00000371084:p.Cys416Tyr					ATP8A1_ENST00000264449.10_Missense_Mutation_p.C416Y	p.C416Y	NM_006095.2	NP_006086.1	Q9Y2Q0	AT8A1_HUMAN			14	1478	-			416					Q32M35|Q32M36|Q4W5J7|Q4W5P2	Missense_Mutation	SNP	ENST00000381668.5	37	c.1247G>A	CCDS3466.1	.	.	.	.	.	.	.	.	.	.	C	23.1	4.372695	0.82573	.	.	ENSG00000124406	ENST00000381668;ENST00000264449	T;T	0.74421	-0.84;-0.84	5.53	5.53	0.82687	ATPase, cation-transporting, domain N (1);HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	0.000000	0.85682	D	0.000000	D	0.90414	0.6999	H	0.94542	3.55	0.80722	D	1	D;D;D	0.89917	0.98;1.0;0.997	D;D;D	0.81914	0.962;0.995;0.961	D	0.92048	0.5646	10	0.54805	T	0.06	.	19.4736	0.94973	0.0:1.0:0.0:0.0	.	416;416;416	B4DII6;Q32M35;Q9Y2Q0	.;.;AT8A1_HUMAN	Y	416	ENSP00000371084:C416Y;ENSP00000264449:C416Y	ENSP00000264449:C416Y	C	-	2	0	ATP8A1	42271441	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	7.752000	0.85141	2.596000	0.87737	0.591000	0.81541	TGC		0.308	ATP8A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000216861.2	NM_006095		16	81	0	0	0	1	0	16	81					T	42576684	C	T	42576684	3	4	7	1	0	0	0	0	1	0	0	0	1192	710	25	3	2343	3	ATP8A1	4	42576684	Missense_Mutation	SNP	C	TCGA-2A-A8W3-01A-11D-A377-08		42576684	148577592	12	233											
TACR3	6870	broad.mit.edu	37	chr4	104640398	104640398	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	taccactcgctatgaagcgcGtagatgaaattgaccaacgt	13	9	9	10	4	0	4	0	3	0	1	1	4	0	4	2	0	3	2	2	0	6	4	rs199586035		TCGA-2A-A8W3-01A-11D-A377-08	TCGA-2A-A8W3-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8c4b6f6-86d6-48a2-bbfb-7b8da1493669	a7e479c1-0527-4958-9741-e038dcfc931f	g.chr4:104640398G>A	ENST00000304883.2	-	1	575	c.435C>T	c.(433-435)taC>taT	p.Y145Y		NM_001059.2	NP_001050.1	P29371	NK3R_HUMAN	tachykinin receptor 3	145					aging (GO:0007568)|hyperosmotic salinity response (GO:0042538)|positive regulation of blood pressure (GO:0045777)|positive regulation of heart rate (GO:0010460)|positive regulation of uterine smooth muscle contraction (GO:0070474)|regulation of dopamine metabolic process (GO:0042053)|regulation of feeding behavior (GO:0060259)|response to cocaine (GO:0042220)|response to estradiol (GO:0032355)|response to morphine (GO:0043278)|tachykinin receptor signaling pathway (GO:0007217)	cytoplasm (GO:0005737)|dendrite membrane (GO:0032590)|integral component of plasma membrane (GO:0005887)|neuronal cell body membrane (GO:0032809)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	tachykinin receptor activity (GO:0004995)			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51		Hepatocellular(203;0.217)		UCEC - Uterine corpus endometrioid carcinoma (10;0.22)|OV - Ovarian serous cystadenocarcinoma(123;3.4e-08)		TATGAAGCGCGTAGATGAAAT	0.537																																						ENST00000304883.2																			0				breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51						c.(433-435)taC>taT		tachykinin receptor 3							108	98	102					4																	104640398		2203	4300	6503	SO:0001819	synonymous_variant	6870					integral to plasma membrane	tachykinin receptor activity	g.chr4:104640398G>A	M89473	CCDS3664.1	4q25	2012-08-08			ENSG00000169836	ENSG00000169836		"GPCR / Class A : Tachykinin receptors"	11528	protein-coding gene	gene with protein product	"neurokinin beta receptor"	162332				1374246	Standard	NM_001059		Approved	NK3R	uc003hxe.1	P29371	OTTHUMG00000131124	ENST00000304883.2:c.435C>T	4.37:g.104640398G>A							p.Y145Y	NM_001059.2	NP_001050.1	P29371	NK3R_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (10;0.22)|OV - Ovarian serous cystadenocarcinoma(123;3.4e-08)	1	575	-		Hepatocellular(203;0.217)	145					Q0P510	Silent	SNP	ENST00000304883.2	37	c.435C>T	CCDS3664.1																																																																																				0.537	TACR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253804.1	NM_001059		7	31	0	0	0	1	0	7	31					A	104640398	G	A	104640398	2	1	7	1	0	0	0	0	0	0	0	1	15504	1140	40	1		1	TACR3	4	104640398	Silent	SNP	G	TCGA-2A-A8W3-01A-11D-A377-08	62063714	104640398	86513878	13	234											
NAA15	80155	broad.mit.edu	37	chr4	140297585	140297585	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaacttggtgaagaacaagAtagagactcatctttttgcc	14	11	9	7	0	2	5	1	1	1	4	2	6	2	5	1	1	3	0	1	1	5	4			TCGA-2A-A8W3-01A-11D-A377-08	TCGA-2A-A8W3-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8c4b6f6-86d6-48a2-bbfb-7b8da1493669	a7e479c1-0527-4958-9741-e038dcfc931f	g.chr4:140297585A>G	ENST00000296543.5	+	16	2337	c.2014A>G	c.(2014-2016)Ata>Gta	p.I672V	NAA15_ENST00000398947.1_Missense_Mutation_p.I672V	NM_057175.3	NP_476516.1	Q9BXJ9	NAA15_HUMAN	N(alpha)-acetyltransferase 15, NatA auxiliary subunit	672	Interaction with HYPK.				angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|N-terminal protein amino acid acetylation (GO:0006474)|negative regulation of apoptotic process (GO:0043066)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|NatA complex (GO:0031415)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	N-acetyltransferase activity (GO:0008080)|poly(A) RNA binding (GO:0044822)|ribosome binding (GO:0043022)			NS(1)|endometrium(3)|large_intestine(7)|liver(2)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	29						GAAGAACAAGATAGAGACTCA	0.333																																						ENST00000296543.5																			0				NS(1)|endometrium(3)|large_intestine(7)|liver(2)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	29						c.(2014-2016)Ata>Gta		N(alpha)-acetyltransferase 15, NatA auxiliary subunit							113	107	109					4																	140297585		1831	4086	5917	SO:0001583	missense	80155				angiogenesis|cell differentiation|N-terminal protein amino acid acetylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|transcription factor complex	protein binding	g.chr4:140297585A>G	AY039242	CCDS43270.1	4q31.1	2010-01-14	2010-01-14	2010-01-14	ENSG00000164134	ENSG00000164134		"N(alpha)-acetyltransferase subunits"	30782	protein-coding gene	gene with protein product		608000	"NMDA receptor regulated 1"	NARG1		12140756, 11478804, 19660095	Standard	XM_005263236		Approved	TBDN100, NATH, FLJ13340	uc003ihu.1	Q9BXJ9	OTTHUMG00000137363	ENST00000296543.5:c.2014A>G	4.37:g.140297585A>G	ENSP00000296543:p.Ile672Val					NAA15_ENST00000398947.1_Missense_Mutation_p.I672V	p.I672V	NM_057175.3	NP_476516.1	Q9BXJ9	NAA15_HUMAN			16	2337	+			672					D3DNY6|Q52LG9|Q8IWH4|Q8NEV2|Q9H8P6	Missense_Mutation	SNP	ENST00000296543.5	37	c.2014A>G	CCDS43270.1	.	.	.	.	.	.	.	.	.	.	A	17.88	3.497662	0.64186	.	.	ENSG00000164134	ENST00000296543;ENST00000544077;ENST00000398947	T;T	0.44083	0.93;0.93	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	T	0.42877	0.1222	L	0.60957	1.885	0.80722	D	1	B	0.17465	0.022	B	0.26969	0.075	T	0.26950	-1.0088	10	0.22706	T	0.39	-19.0649	15.8229	0.78673	1.0:0.0:0.0:0.0	.	672	Q9BXJ9	NAA15_HUMAN	V	672;546;672	ENSP00000296543:I672V;ENSP00000381920:I672V	ENSP00000296543:I672V	I	+	1	0	NAA15	140517035	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.119000	0.77145	2.130000	0.65690	0.477000	0.44152	ATA		0.333	NAA15-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000267839.2	NM_057175		12	45	0	0	0	1	0	12	45					G	140297585	A	G	140297585	3	3	7	1	0	0	0	0	1	0	0	0	10118	333	12	4	2076	4	NAA15	4	140297585	Missense_Mutation	SNP	A	TCGA-2A-A8W3-01A-11D-A377-08	35657187	140297585	50856691	14	235											
PCDHA1	56147	broad.mit.edu	37	chr5	140168038	140168038	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgctgctgtacacggcgctGcggtgctcagtgccgcccac	4	8	13	16	4	1	0	1	0	0	0	1	0	1	0	2	2	6	5	2	2	1	1			TCGA-2A-A8W3-01A-11D-A377-08	TCGA-2A-A8W3-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8c4b6f6-86d6-48a2-bbfb-7b8da1493669	a7e479c1-0527-4958-9741-e038dcfc931f	g.chr5:140168038G>T	ENST00000504120.2	+	1	2163	c.2163G>T	c.(2161-2163)ctG>ctT	p.L721L	PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000378133.3_Silent_p.L721L	NM_018900.2	NP_061723.1	Q9Y5I3	PCDA1_HUMAN	protocadherin alpha 1	721					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3)	70			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACACGGCGCTGCGGTGCTCAG	0.657																																						ENST00000504120.2																			0				breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3)	70						c.(2161-2163)ctG>ctT									53	47	49					5																	140168038		2203	4299	6502	SO:0001819	synonymous_variant	0							g.chr5:140168038G>T	AF152479	CCDS54912.1, CCDS54913.1	5q31	2010-11-26				ENSG00000204970		"Cadherins / Protocadherins : Clustered"	8663	other	complex locus constituent	"KIAA0345-like 13"	606307				10380929	Standard	NM_018900		Approved			Q9Y5I3		ENST00000504120.2:c.2163G>T	5.37:g.140168038G>T						PCDHA1_ENST00000378133.3_Silent_p.L721L|PCDHA1_ENST00000394633.3_Intron	p.L721L	NM_018900.2	NP_061723.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2163	+								O75288|Q9NRT7	Silent	SNP	ENST00000504120.2	37	c.2163G>T	CCDS54913.1																																																																																				0.657	PCDHA1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000389127.1	NM_018900		4	49	1	0	0.150653	1	0.150653	4	49					T	140168038	G	T	140168038	2	4	7	1	0	0	0	0	0	0	0	1	11519	1306	46	5		5	PCDHA1	5	140168038	Silent	SNP	G	TCGA-2A-A8W3-01A-11D-A377-08		140168038	40747222	15	236											
ATP10B	23120	broad.mit.edu	37	chr5	160047583	160047583	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagctgtaggcatgggcagcGtgcaccagggcggcctcatc	8	6	15	12	2	1	0	1	0	0	0	2	0	1	0	2	4	3	5	2	4	2	1			TCGA-2A-A8W3-01A-11D-A377-08	TCGA-2A-A8W3-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8c4b6f6-86d6-48a2-bbfb-7b8da1493669	a7e479c1-0527-4958-9741-e038dcfc931f	g.chr5:160047583G>A	ENST00000327245.5	-	15	3033	c.2187C>T	c.(2185-2187)caC>caT	p.H729H	CTC-348L5.1_ENST00000523598.1_RNA	NM_025153.2	NP_079429.2	O94823	AT10B_HUMAN	ATPase, class V, type 10B	729					phospholipid translocation (GO:0045332)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CATGGGCAGCGTGCACCAGGG	0.642																																						ENST00000327245.5																			0				NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75						c.(2185-2187)caC>caT		ATPase, class V, type 10B							34	38	37					5																	160047583		2110	4221	6331	SO:0001819	synonymous_variant	23120				ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr5:160047583G>A	AB018258	CCDS43394.1	5q34	2010-04-20	2007-09-19		ENSG00000118322	ENSG00000118322		"ATPases / P-type"	13543	protein-coding gene	gene with protein product			"ATPase, Class V, type 10B"			9872452, 11015572	Standard	NM_025153		Approved	ATPVB, KIAA0715, FLJ21477	uc003lym.1	O94823	OTTHUMG00000163551	ENST00000327245.5:c.2187C>T	5.37:g.160047583G>A						CTC-348L5.1_ENST00000523598.1_RNA	p.H729H	NM_025153.2	NP_079429.2	O94823	AT10B_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		15	3033	-	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	729					Q9H725	Silent	SNP	ENST00000327245.5	37	c.2187C>T	CCDS43394.1																																																																																				0.642	ATP10B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374127.1	NM_025153		7	24	0	0	0	1	0	7	24					A	160047583	G	A	160047583	2	1	7	1	0	0	0	0	0	0	0	1	1117	1136	40	1		1	ATP10B	5	160047583	Silent	SNP	G	TCGA-2A-A8W3-01A-11D-A377-08	19879545	160047583	20867677	16	237											
F13A1	2162	broad.mit.edu	37	chr6	6305671	6305671	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atagaaagactgccctctgcGgacaatcagcttgttgtttt	10	13	9	9	1	2	2	1	0	1	2	2	3	2	3	1	1	3	3	1	1	3	5			TCGA-2A-A8W3-01A-11D-A377-08	TCGA-2A-A8W3-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8c4b6f6-86d6-48a2-bbfb-7b8da1493669	a7e479c1-0527-4958-9741-e038dcfc931f	g.chr6:6305671G>A	ENST00000264870.3	-	3	497	c.232C>T	c.(232-234)Cgc>Tgc	p.R78C		NM_000129.3	NP_000120.2	P00488	F13A_HUMAN	coagulation factor XIII, A1 polypeptide	78					blood coagulation (GO:0007596)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|platelet alpha granule lumen (GO:0031093)	metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)	p.R78C(1)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	62	Ovarian(93;0.0816)	all_hematologic(90;0.152)			L-Glutamine(DB00130)	TGCCCTCTGCGGACAATCAGC	0.478																																						ENST00000264870.3																			1	Substitution - Missense(1)	p.R78C(1)	ovary(1)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	62	GRCh37	CM023370	F13A1	M		c.(232-234)Cgc>Tgc		coagulation factor XIII, A1 polypeptide	L-Glutamine(DB00130)						271	212	232					6																	6305671		2203	4300	6503	SO:0001583	missense	2162				peptide cross-linking|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity	g.chr6:6305671G>A	M14539	CCDS4496.1	6p24.2-p23	2014-01-24			ENSG00000124491	ENSG00000124491		"Transglutaminases"	3531	protein-coding gene	gene with protein product		134570		F13A			Standard	NM_000129		Approved		uc003mwv.3	P00488	OTTHUMG00000014186	ENST00000264870.3:c.232C>T	6.37:g.6305671G>A	ENSP00000264870:p.Arg78Cys						p.R78C	NM_000129.3	NP_000120.2	P00488	F13A_HUMAN			3	497	-	Ovarian(93;0.0816)	all_hematologic(90;0.152)	78					Q59HA7|Q8N6X2|Q96P24|Q9BX29	Missense_Mutation	SNP	ENST00000264870.3	37	c.232C>T	CCDS4496.1	.	.	.	.	.	.	.	.	.	.	G	19.77	3.890227	0.72524	.	.	ENSG00000124491	ENST00000264870;ENST00000414279;ENST00000431222	D;D	0.98958	-5.27;-5.27	5.48	5.48	0.80851	Immunoglobulin E-set (1);Transglutaminase, N-terminal (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.99245	0.9737	M	0.88640	2.97	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99537	1.0962	10	0.87932	D	0	.	16.8495	0.85990	0.0:0.0:1.0:0.0	.	78	P00488	F13A_HUMAN	C	78;78;116	ENSP00000264870:R78C;ENSP00000413334:R78C	ENSP00000264870:R78C	R	-	1	0	F13A1	6250670	1.000000	0.71417	0.344000	0.25628	0.772000	0.43724	7.501000	0.81600	2.572000	0.86782	0.585000	0.79938	CGC		0.478	F13A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039756.3	NM_000129		19	54	0	0	0	1	0	19	54					A	6305671	G	A	6305671	3	1	7	1	0	0	0	0	1	0	0	0	5340	1116	39	2	2018	2	F13A1	6	6305671	Missense_Mutation	SNP	G	TCGA-2A-A8W3-01A-11D-A377-08		6305671	164809396	17	238											
RANBP9	10048	broad.mit.edu	37	chr6	13625976	13625976	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgttccagggatctgaataTgctagtagactgaatgcatc	11	12	10	8	0	1	3	0	2	1	1	3	4	2	4	1	1	2	4	1	1	5	4			TCGA-2A-A8W3-01A-11D-A377-08	TCGA-2A-A8W3-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8c4b6f6-86d6-48a2-bbfb-7b8da1493669	a7e479c1-0527-4958-9741-e038dcfc931f	g.chr6:13625976T>C	ENST00000011619.3	-	13	2026	c.1968A>G	c.(1966-1968)gcA>gcG	p.A656A	RANBP9_ENST00000469916.1_5'UTR|NOL7_ENST00000474485.1_Intron|RANBP9_ENST00000539980.1_Silent_p.A427A	NM_005493.2	NP_005484.2	Q96S59	RANB9_HUMAN	RAN binding protein 9	656	Interaction with FMR1.				axon guidance (GO:0007411)|microtubule nucleation (GO:0007020)|protein complex assembly (GO:0006461)	cytosol (GO:0005829)|microtubule associated complex (GO:0005875)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|Ran GTPase binding (GO:0008536)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|skin(1)	16	Breast(50;0.00669)|Ovarian(93;0.0634)	all_hematologic(90;0.117)	Epithelial(50;0.223)			GATCTGAATATGCTAGTAGAC	0.388																																						ENST00000011619.3																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|skin(1)	16						c.(1966-1968)gcA>gcG		RAN binding protein 9							166	163	164					6																	13625976		2203	4300	6503	SO:0001819	synonymous_variant	10048				axon guidance|microtubule nucleation|protein complex assembly	cytosol|microtubule associated complex|nucleus	Ran GTPase binding	g.chr6:13625976T>C	AB008515	CCDS4529.1	6p23	2010-05-25			ENSG00000010017	ENSG00000010017			13727	protein-coding gene	gene with protein product	"Ran Binding Protein in the Microtubule organizing center"	603854				9817760	Standard	NM_005493		Approved	RanBPM	uc003nbb.3	Q96S59	OTTHUMG00000015642	ENST00000011619.3:c.1968A>G	6.37:g.13625976T>C						NOL7_ENST00000474485.1_Intron|RANBP9_ENST00000469916.1_5'UTR|RANBP9_ENST00000539980.1_Silent_p.A427A	p.A656A	NM_005493.2	NP_005484.2	Q96S59	RANB9_HUMAN	Epithelial(50;0.223)		13	2026	-	Breast(50;0.00669)|Ovarian(93;0.0634)	all_hematologic(90;0.117)	656			Interaction with FMR1.		A0PJA2|B2R8E1|O94764|Q6P3T7|Q7LBR2|Q7Z7F9	Silent	SNP	ENST00000011619.3	37	c.1968A>G	CCDS4529.1																																																																																				0.388	RANBP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042373.1			26	68	0	0	0	1	0	26	68					C	13625976	T	C	13625976	2	2	7	1	0	0	0	0	0	0	0	1	13032	1451	51	4		4	RANBP9	6	13625976	Silent	SNP	T	TCGA-2A-A8W3-01A-11D-A377-08	7320305	13625976	157489091	18	239											
HIST1H3C	8352	broad.mit.edu	37	chr6	26045770	26045770	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaacctcatcgctaccgcccGggcaccgtggccttgcgcga	7	6	11	17	6	1	0	1	0	0	0	2	1	1	0	5	2	3	2	5	2	2	2			TCGA-2A-A8W3-01A-11D-A377-08	TCGA-2A-A8W3-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8c4b6f6-86d6-48a2-bbfb-7b8da1493669	a7e479c1-0527-4958-9741-e038dcfc931f	g.chr6:26045770G>A	ENST00000540144.1	+	1	132	c.132G>A	c.(130-132)ccG>ccA	p.P44P	HIST1H2BB_ENST00000357905.2_5'Flank	NM_003531.2	NP_003522.1	P68431	H31_HUMAN	histone cluster 1, H3c	44					blood coagulation (GO:0007596)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|regulation of gene silencing (GO:0060968)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(1)|skin(1)	8						GCTACCGCCCGGGCACCGTGG	0.647																																						ENST00000540144.1																			0				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(1)|skin(1)	8						c.(130-132)ccG>ccA		histone cluster 1, H3c							47	50	49					6																	26045770		2203	4300	6503	SO:0001819	synonymous_variant	8352				blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding	g.chr6:26045770G>A	X57128	CCDS4576.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000196532	ENSG00000278272		"Histones / Replication-dependent"	4768	protein-coding gene	gene with protein product		602812	"H3 histone family, member C", "histone 1, H3c"	H3FC		8227173, 9119399, 12408966	Standard	NM_003531		Approved	H3/c, H3.1	uc003nfv.3	P68431	OTTHUMG00000014416	ENST00000540144.1:c.132G>A	6.37:g.26045770G>A							p.P44P	NM_003531.2	NP_003522.1	P68431	H31_HUMAN			1	132	+			44					A0PJT7|A5PLR1|P02295|P02296|P16106|Q6ISV8|Q6NWP8|Q6NWP9|Q6NXU4|Q71DJ3|Q93081	Silent	SNP	ENST00000540144.1	37	c.132G>A	CCDS4576.1																																																																																				0.647	HIST1H3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040078.1	NM_003531		6	68	0	0	0	1	0	6	68					A	26045770	G	A	26045770	2	1	7	1	0	0	0	0	0	0	0	1	7157	1103	39	2		2	HIST1H3C	6	26045770	Silent	SNP	G	TCGA-2A-A8W3-01A-11D-A377-08	12419794	26045770	145069297	19	240											
OR10C1	442194	broad.mit.edu	37	chr6	29408448	29408448	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	catcctgggctcctacgggcGtatcctcgttaccatcttcc	5	12	8	16	3	1	0	0	0	1	0	6	0	5	0	5	2	2	3	5	2	3	4	rs74711365		TCGA-2A-A8W3-01A-11D-A377-08	TCGA-2A-A8W3-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8c4b6f6-86d6-48a2-bbfb-7b8da1493669	a7e479c1-0527-4958-9741-e038dcfc931f	g.chr6:29408448G>A	ENST00000444197.2	+	1	1366	c.656G>A	c.(655-657)cGt>cAt	p.R219H	OR11A1_ENST00000377149.1_Intron	NM_013941.3	NP_039229.3	Q96KK4	O10C1_HUMAN	olfactory receptor, family 10, subfamily C, member 1 (gene/pseudogene)	219						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(2)|kidney(1)|large_intestine(3)|liver(2)|lung(14)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						TCCTACGGGCGTATCCTCGTT	0.582													G|||	1	0.000199681	0	0	5008	,	,		18522	0		0.001	False		,,,				2504	0					ENST00000444197.2																			0				NS(1)|breast(2)|kidney(1)|large_intestine(3)|liver(2)|lung(14)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						c.(655-657)cGt>cAt		olfactory receptor, family 10, subfamily C, member 1 (gene/pseudogene)							201	215	210					6																	29408448		1511	2709	4220	SO:0001583	missense	442194				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr6:29408448G>A		CCDS34364.1	6p22.2-p21.31	2013-10-10	2013-10-10		ENSG00000206474	ENSG00000206474		"GPCR / Class A : Olfactory receptors"	8165	protein-coding gene	gene with protein product			"olfactory receptor, family 10, subfamily C, member 2", "olfactory receptor, family 10, subfamily C, member 1"	OR10C2			Standard	NM_013941		Approved	hs6M1-17, OR10C1P	uc011dlp.2	Q96KK4	OTTHUMG00000031207	ENST00000444197.2:c.656G>A	6.37:g.29408448G>A	ENSP00000419119:p.Arg219His					OR11A1_ENST00000377149.1_Intron	p.R219H	NM_013941.3	NP_039229.3	Q96KK4	O10C1_HUMAN			1	1366	+			219					Q5SUN7|Q96R18	Missense_Mutation	SNP	ENST00000444197.2	37	c.656G>A	CCDS34364.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	2.237	-0.374776	0.05034	.	.	ENSG00000206474	ENST00000444197	T	0.00107	8.72	3.49	-0.39	0.12450	GPCR, rhodopsin-like superfamily (1);	1.341410	0.05509	N	0.559845	T	0.00039	0.0001	L	0.28458	0.855	0.09310	N	1	B	0.16802	0.019	B	0.20955	0.032	T	0.05767	-1.0865	10	0.33141	T	0.24	.	3.7393	0.08523	0.5714:0.0:0.2392:0.1894	.	219	Q96KK4	O10C1_HUMAN	H	219	ENSP00000419119:R219H	ENSP00000419119:R219H	R	+	2	0	OR10C1	29516427	0.000000	0.05858	0.001000	0.08648	0.018000	0.09664	-2.281000	0.01157	-0.067000	0.12976	-0.199000	0.12753	CGT		0.582	OR10C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076415.2			12	183	0	0	0	1	0	12	183					A	29408448	G	A	29408448	3	1	7	1	0	0	0	0	1	0	0	0	10898	1145	40	1	658	1	OR10C1	6	29408448	Missense_Mutation	SNP	G	TCGA-2A-A8W3-01A-11D-A377-08	3362678	29408448	141706619	20	241											
CGA	1081	broad.mit.edu	37	chr6	87796012	87796012	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaagtggactctgaggtgaCgttcttttggaccaacatcg	9	11	12	9	2	2	2	0	2	2	0	3	4	2	4	1	3	1	2	1	3	2	3	rs145503313		TCGA-2A-A8W3-01A-11D-A377-08	TCGA-2A-A8W3-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8c4b6f6-86d6-48a2-bbfb-7b8da1493669	a7e479c1-0527-4958-9741-e038dcfc931f	g.chr6:87796012C>T	ENST00000369582.2	-	3	329	c.229G>A	c.(229-231)Gtc>Atc	p.V77I	RN7SKP209_ENST00000516888.1_RNA	NM_000735.3	NP_000726.1	P01215	GLHA_HUMAN	glycoprotein hormones, alpha polypeptide	77					cell-cell signaling (GO:0007267)|cellular protein metabolic process (GO:0044267)|cellular response to hormone stimulus (GO:0032870)|developmental growth (GO:0048589)|follicle-stimulating hormone secretion (GO:0046884)|gonad development (GO:0008406)|luteinizing hormone secretion (GO:0032275)|negative regulation of organ growth (GO:0046621)|peptide hormone processing (GO:0016486)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|signal transduction (GO:0007165)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular region (GO:0005576)	hormone activity (GO:0005179)	p.V77I(1)		NS(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(1)	15		all_cancers(76;5.98e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;5.29e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.000102)		BRCA - Breast invasive adenocarcinoma(108;0.0484)		TCTGAGGTGACGTTCTTTTGG	0.483																																						ENST00000369582.2																			1	Substitution - Missense(1)	p.V77I(1)	large_intestine(1)	NS(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(1)	15						c.(229-231)Gtc>Atc		glycoprotein hormones, alpha polypeptide		C	ILE/VAL	0,4406		0,0,2203	196	192	193		229	4.3	0.9	6	dbSNP_134	193	1,8599	1.2+/-3.3	0,1,4299	no	missense	CGA	NM_000735.2	29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	77/117	87796012	1,13005	2203	4300	6503	SO:0001583	missense	1081				hormone biosynthetic process|peptide hormone processing|signal transduction	extracellular region|soluble fraction	hormone activity	g.chr6:87796012C>T	V00518	CCDS5007.1, CCDS75492.1	6q14-q21	2013-02-26			ENSG00000135346	ENSG00000135346		"Endogenous ligands"	1885	protein-coding gene	gene with protein product	"follicle-stimulating hormone alpha subunit", "chorionic gonadotropin, alpha polypeptide", "luteinizing hormone alpha chain", "lutropin alpha chain", "thyroid-stimulating hormone alpha chain", "glycoprotein hormones alpha chain"	118850				6286817	Standard	NM_000735		Approved	HCG, GPHa, GPHA1, FSHA, LHA, TSHA	uc021zci.1	P01215	OTTHUMG00000015161	ENST00000369582.2:c.229G>A	6.37:g.87796012C>T	ENSP00000358595:p.Val77Ile						p.V77I	NM_000735.3	NP_000726.1	P01215	GLHA_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0484)	3	329	-		all_cancers(76;5.98e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;5.29e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.000102)	77						Missense_Mutation	SNP	ENST00000369582.2	37	c.229G>A	CCDS5007.1	.	.	.	.	.	.	.	.	.	.	C	0.161	-1.080860	0.01888	0.0	1.16E-4	ENSG00000135346	ENST00000369582	.	.	.	5.62	4.35	0.52113	.	0.046039	0.85682	N	0.000000	T	0.02230	0.0069	N	0.00339	-1.615	0.29560	N	0.850677	B	0.15930	0.015	B	0.18561	0.022	T	0.44298	-0.9337	9	0.02654	T	1	-21.153	10.3843	0.44129	0.0:0.0853:0.0:0.9147	.	77	P01215	GLHA_HUMAN	I	77	.	ENSP00000358595:V77I	V	-	1	0	CGA	87852731	1.000000	0.71417	0.900000	0.35374	0.001000	0.01503	4.616000	0.61197	0.838000	0.34948	-0.225000	0.12378	GTC		0.483	CGA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041425.1	NM_000735		4	93	0	0	0	1	0	4	93					T	87796012	C	T	87796012	3	4	7	1	0	0	0	0	1	0	0	0	3295	536	19	1	129	1	CGA	6	87796012	Missense_Mutation	SNP	C	TCGA-2A-A8W3-01A-11D-A377-08	58387564	87796012	83319055	21	242											
SYNE1	23345	broad.mit.edu	37	chr6	152679519	152679519	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aggccttacctgaagatcacGcaatgttgtctcatgagtgt	10	12	10	9	1	2	3	2	2	1	1	3	3	2	3	2	1	1	2	2	1	3	2			TCGA-2A-A8W3-01A-11D-A377-08	TCGA-2A-A8W3-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8c4b6f6-86d6-48a2-bbfb-7b8da1493669	a7e479c1-0527-4958-9741-e038dcfc931f	g.chr6:152679519G>A	ENST00000367255.5	-	66	11198	c.10597C>T	c.(10597-10599)Cgt>Tgt	p.R3533C	SYNE1_ENST00000423061.1_Missense_Mutation_p.R3540C|SYNE1_ENST00000448038.1_Missense_Mutation_p.R3540C|SYNE1_ENST00000341594.5_Missense_Mutation_p.R3504C|SYNE1_ENST00000265368.4_Missense_Mutation_p.R3533C	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	3533					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TGAAGATCACGCAATGTTGTC	0.388										HNSCC(10;0.0054)																												ENST00000367255.5																			0				NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524						c.(10597-10599)Cgt>Tgt		spectrin repeat containing, nuclear envelope 1							198	179	185					6																	152679519		2203	4300	6503	SO:0001583	missense	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152679519G>A	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"myocyte nuclear envelope protein 1", "nuclear envelope spectrin repeat-1"	608441	"chromosome 6 open reading frame 98"	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.10597C>T	6.37:g.152679519G>A	ENSP00000356224:p.Arg3533Cys	HNSCC(10;0.0054)				SYNE1_ENST00000448038.1_Missense_Mutation_p.R3540C|SYNE1_ENST00000265368.4_Missense_Mutation_p.R3533C|SYNE1_ENST00000341594.5_Missense_Mutation_p.R3504C|SYNE1_ENST00000423061.1_Missense_Mutation_p.R3540C	p.R3533C	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	66	11198	-		Ovarian(120;0.0955)	3533					E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	c.10597C>T	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	G	14.70	2.613151	0.46631	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594	T;T;T;T;T	0.54675	0.56;1.22;0.56;1.22;0.56	5.35	3.49	0.39957	.	0.297961	0.24608	N	0.037066	T	0.51278	0.1665	L	0.56769	1.78	0.80722	D	1	D;D;D;D	0.71674	0.996;0.996;0.996;0.998	P;P;P;P	0.55824	0.614;0.614;0.614;0.785	T	0.56721	-0.7932	10	0.62326	D	0.03	.	14.0898	0.64982	0.0:0.0:0.7109:0.2891	.	3533;3533;3533;3540	B7ZBC3;Q8NF91;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.	C	3533;3540;3533;3540;3504	ENSP00000356224:R3533C;ENSP00000396024:R3540C;ENSP00000265368:R3533C;ENSP00000390975:R3540C;ENSP00000341887:R3504C	ENSP00000265368:R3533C	R	-	1	0	SYNE1	152721212	1.000000	0.71417	0.933000	0.37362	0.778000	0.44026	3.725000	0.54970	0.578000	0.29487	0.561000	0.74099	CGT		0.388	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		22	99	0	0	0	1	0	22	99					A	152679519	G	A	152679519	3	1	7	1	0	0	0	0	1	0	0	0	15442	1087	38	1	16193	1	SYNE1	6	152679519	Missense_Mutation	SNP	G	TCGA-2A-A8W3-01A-11D-A377-08	64883507	152679519	18435548	22	243											
CHRM2	1129	broad.mit.edu	37	chr7	136699850	136699850	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtgttttctccatgaacttgTacaccctctacactgtgatt	8	16	6	11	0	2	2	0	2	2	0	3	2	2	2	2	0	3	2	2	0	3	6			TCGA-2A-A8W3-01A-11D-A377-08	TCGA-2A-A8W3-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8c4b6f6-86d6-48a2-bbfb-7b8da1493669	a7e479c1-0527-4958-9741-e038dcfc931f	g.chr7:136699850T>C	ENST00000445907.2	+	3	766	c.238T>C	c.(238-240)Tac>Cac	p.Y80H	CHRM2_ENST00000320658.5_Missense_Mutation_p.Y80H|hsa-mir-490_ENST00000425981.2_RNA|hsa-mir-490_ENST00000586239.1_RNA|CHRM2_ENST00000397608.3_Missense_Mutation_p.Y80H|hsa-mir-490_ENST00000593789.1_RNA|CHRM2_ENST00000402486.3_Missense_Mutation_p.Y80H|hsa-mir-490_ENST00000592183.1_RNA|CHRM2_ENST00000401861.1_Missense_Mutation_p.Y80H|CHRM2_ENST00000453373.1_Missense_Mutation_p.Y80H|hsa-mir-490_ENST00000439694.1_RNA|hsa-mir-490_ENST00000598184.1_RNA|hsa-mir-490_ENST00000597642.1_RNA	NM_001006627.1|NM_001006629.1	NP_001006628.1|NP_001006630.1	P08172	ACM2_HUMAN	cholinergic receptor, muscarinic 2	80					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|nervous system development (GO:0007399)|phospholipase C-activating G-protein coupled acetylcholine receptor signaling pathway (GO:0007207)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|regulation of heart contraction (GO:0008016)|response to virus (GO:0009615)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	G-protein coupled acetylcholine receptor activity (GO:0016907)			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(13)|liver(1)|lung(29)|ovary(4)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	68					Aclidinium(DB08897)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Anisotropine Methylbromide(DB00517)|Aripiprazole(DB01238)|Atropine(DB00572)|Bethanechol(DB01019)|Brompheniramine(DB00835)|Carbachol(DB00411)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Cocaine(DB00907)|Cryptenamine(DB00785)|Cyproheptadine(DB00434)|Darifenacin(DB00496)|Desipramine(DB01151)|Dicyclomine(DB00804)|Dimetindene(DB08801)|Diphenidol(DB01231)|Disopyramide(DB00280)|Doxacurium chloride(DB01135)|Doxepin(DB01142)|Ethopropazine(DB00392)|Fesoterodine(DB06702)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Glycopyrrolate(DB00986)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Imipramine(DB00458)|Ipratropium bromide(DB00332)|Ketamine(DB01221)|Loxapine(DB00408)|Maprotiline(DB00934)|Methotrimeprazine(DB01403)|Methylscopolamine bromide(DB00462)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Nicardipine(DB00622)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pancuronium(DB01337)|Paroxetine(DB00715)|Pethidine(DB00454)|Pilocarpine(DB01085)|Pipecuronium(DB01338)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Rocuronium(DB00728)|Scopolamine(DB00747)|Solifenacin(DB01591)|Succinylcholine(DB00202)|Tiotropium(DB01409)|Tolterodine(DB01036)|Triflupromazine(DB00508)|Trihexyphenidyl(DB00376)|Trimipramine(DB00726)|Tropicamide(DB00809)|Ziprasidone(DB00246)	CATGAACTTGTACACCCTCTA	0.468																																						ENST00000445907.2																			0				central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(13)|liver(1)|lung(29)|ovary(4)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	68						c.(238-240)Tac>Cac		cholinergic receptor, muscarinic 2	Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Carbachol(DB00411)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Desipramine(DB01151)|Diphenidol(DB01231)|Doxacurium chloride(DB01135)|Doxacurium(DB01334)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Ipratropium(DB00332)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pilocarpine(DB01085)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Rocuronium(DB00728)|Thiethylperazine(DB00372)|Tolterodine(DB01036)|Tridihexethyl(DB00505)|Triflupromazine(DB00508)						224	199	208					7																	136699850		2203	4300	6503	SO:0001583	missense	1129				activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|nervous system development|regulation of heart contraction|response to virus	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|protein binding	g.chr7:136699850T>C		CCDS5843.1	7q35-q36	2014-09-17			ENSG00000181072	ENSG00000181072		"Cholinergic receptors", "GPCR / Class A : Cholinergic receptors, muscarinic"	1951	protein-coding gene	gene with protein product	"acetylcholine receptor, muscarinic 2"	118493					Standard	NM_000739		Approved		uc003vtl.1	P08172	OTTHUMG00000155658	ENST00000445907.2:c.238T>C	7.37:g.136699850T>C	ENSP00000399745:p.Tyr80His					CHRM2_ENST00000397608.3_Missense_Mutation_p.Y80H|AC009264.1_ENST00000586239.1_RNA|AC009264.1_ENST00000598184.1_RNA|CHRM2_ENST00000320658.5_Missense_Mutation_p.Y80H|AC009264.1_ENST00000425981.2_RNA|AC009264.1_ENST00000597642.1_RNA|AC009264.1_ENST00000593789.1_RNA|AC009264.1_ENST00000592183.1_RNA|CHRM2_ENST00000402486.3_Missense_Mutation_p.Y80H|CHRM2_ENST00000453373.1_Missense_Mutation_p.Y80H|CHRM2_ENST00000401861.1_Missense_Mutation_p.Y80H|AC009264.1_ENST00000439694.1_RNA	p.Y80H	NM_001006627.1|NM_001006629.1	NP_001006628.1|NP_001006630.1	P08172	ACM2_HUMAN			3	766	+			80					Q4VBK6|Q9P1X9	Missense_Mutation	SNP	ENST00000445907.2	37	c.238T>C	CCDS5843.1	.	.	.	.	.	.	.	.	.	.	T	18.81	3.703045	0.68501	.	.	ENSG00000181072	ENST00000445907;ENST00000453373;ENST00000320658;ENST00000397608;ENST00000402486;ENST00000401861	T;T;T;T;T;T	0.37584	1.19;1.19;1.19;1.19;1.19;1.19	5.4	5.4	0.78164	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.61085	0.2319	M	0.82433	2.59	0.80722	D	1	D	0.76494	0.999	D	0.75020	0.985	T	0.61232	-0.7104	10	0.21540	T	0.41	-15.2224	15.4806	0.75524	0.0:0.0:0.0:1.0	.	80	P08172	ACM2_HUMAN	H	80	ENSP00000399745:Y80H;ENSP00000415386:Y80H;ENSP00000319984:Y80H;ENSP00000380733:Y80H;ENSP00000384937:Y80H;ENSP00000384401:Y80H	ENSP00000319984:Y80H	Y	+	1	0	CHRM2	136350390	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.959000	0.87885	2.059000	0.61396	0.524000	0.50904	TAC		0.468	CHRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341010.1			22	90	0	0	0	1	0	22	90					C	136699850	T	C	136699850	3	2	7	1	0	0	0	0	1	0	0	0	3377	1638	57	4	240	4	CHRM2	7	136699850	Missense_Mutation	SNP	T	TCGA-2A-A8W3-01A-11D-A377-08		136699850	22438813	23	244											
ST3GAL1	6482	broad.mit.edu	37	chr8	134472109	134472109	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cccgtcttgcgaaaagccccCgcggatgggttgttctccca	6	9	11	15	4	2	0	0	0	2	0	3	2	2	1	4	2	2	2	4	2	2	3			TCGA-2A-A8W3-01A-11D-A377-08	TCGA-2A-A8W3-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8c4b6f6-86d6-48a2-bbfb-7b8da1493669	a7e479c1-0527-4958-9741-e038dcfc931f	g.chr8:134472109C>T	ENST00000319914.5	-	9	1948	c.921G>A	c.(919-921)gcG>gcA	p.A307A	ST3GAL1_ENST00000521180.1_Silent_p.A307A|ST3GAL1_ENST00000522652.1_Silent_p.A307A|ST3GAL1_ENST00000399640.2_Silent_p.A307A			Q11201	SIA4A_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase 1	307					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|cellular protein modification process (GO:0006464)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|N-acetylneuraminate metabolic process (GO:0006054)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation (GO:0006487)|protein phosphorylation (GO:0006468)|sialylation (GO:0097503)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)|membrane (GO:0016020)	beta-galactoside (CMP) alpha-2,3-sialyltransferase activity (GO:0003836)			endometrium(3)|large_intestine(2)|lung(11)|prostate(1)	17	all_epithelial(106;1.53e-23)|Lung NSC(106;3.15e-07)|all_lung(105;1.26e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.00721)			GAAAAGCCCCCGCGGATGGGT	0.552																																						ENST00000319914.5																			0				endometrium(3)|large_intestine(2)|lung(11)|prostate(1)	17						c.(919-921)gcG>gcA		ST3 beta-galactoside alpha-2,3-sialyltransferase 1							153	152	152					8																	134472109		2203	4300	6503	SO:0001819	synonymous_variant	6482				protein glycosylation	extracellular region|Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,3-sialyltransferase activity	g.chr8:134472109C>T	L29555	CCDS6373.1	8q24.22	2013-03-01	2003-01-14	2005-02-07	ENSG00000008513	ENSG00000008513	2.4.99.4	"Sialyltransferases"	10862	protein-coding gene	gene with protein product	"ST3Gal I"	607187	"sialyltransferase 4A (beta-galactosidase alpha-2,3-sialytransferase)"	SIAT4A		10504389, 7655169	Standard	NM_003033		Approved	ST3O, SIATFL, ST3GalA.1	uc003yuk.2	Q11201	OTTHUMG00000164534	ENST00000319914.5:c.921G>A	8.37:g.134472109C>T						ST3GAL1_ENST00000522652.1_Silent_p.A307A|ST3GAL1_ENST00000399640.2_Silent_p.A307A|ST3GAL1_ENST00000521180.1_Silent_p.A307A	p.A307A			Q11201	SIA4A_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.00721)		9	1948	-	all_epithelial(106;1.53e-23)|Lung NSC(106;3.15e-07)|all_lung(105;1.26e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)		307					O60677|Q9UN51	Silent	SNP	ENST00000319914.5	37	c.921G>A	CCDS6373.1																																																																																				0.552	ST3GAL1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379132.1	NM_003033		4	167	0	0	0	1	0	4	167					T	134472109	C	T	134472109	2	4	7	1	0	0	0	0	0	0	0	1	15213	639	23	2		2	ST3GAL1	8	134472109	Silent	SNP	C	TCGA-2A-A8W3-01A-11D-A377-08		134472109	11891913	24	245											
PDE6C	5146	broad.mit.edu	37	chr10	95399905	95399905	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcccccttacagagcacggaTtgattaaatgtggaatacga	13	10	9	9	2	0	2	0	1	0	1	1	5	1	4	2	2	3	1	2	2	5	4			TCGA-2A-A8W3-01A-11D-A377-08	TCGA-2A-A8W3-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8c4b6f6-86d6-48a2-bbfb-7b8da1493669	a7e479c1-0527-4958-9741-e038dcfc931f	g.chr10:95399905T>C	ENST00000371447.3	+	12	1699	c.1561T>C	c.(1561-1563)Ttg>Ctg	p.L521L		NM_006204.3	NP_006195.3	P51160	PDE6C_HUMAN	phosphodiesterase 6C, cGMP-specific, cone, alpha prime	521					phototransduction, visible light (GO:0007603)|retinal cone cell development (GO:0046549)|visual perception (GO:0007601)	plasma membrane (GO:0005886)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|cGMP binding (GO:0030553)|metal ion binding (GO:0046872)			breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	42		Colorectal(252;0.123)			Caffeine(DB00201)	AGAGCACGGATTGATTAAATG	0.413																																						ENST00000371447.3																			0				breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	42						c.(1561-1563)Ttg>Ctg		phosphodiesterase 6C, cGMP-specific, cone, alpha prime							124	116	119					10																	95399905		2203	4300	6503	SO:0001819	synonymous_variant	5146				visual perception	plasma membrane	3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|metal ion binding	g.chr10:95399905T>C	U31973	CCDS7429.1	10q24	2013-01-23			ENSG00000095464	ENSG00000095464	3.1.4.17	"Phosphodiesterases"	8787	protein-coding gene	gene with protein product		600827					Standard	NM_006204		Approved	PDEA2, ACHM5, COD4	uc001kiu.4	P51160	OTTHUMG00000018775	ENST00000371447.3:c.1561T>C	10.37:g.95399905T>C							p.L521L	NM_006204.3	NP_006195.3	P51160	PDE6C_HUMAN			12	1699	+		Colorectal(252;0.123)	521					A6NCR6|Q5VY29	Silent	SNP	ENST00000371447.3	37	c.1561T>C	CCDS7429.1																																																																																				0.413	PDE6C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049437.1	NM_006204		17	47	0	0	0	1	0	17	47					C	95399905	T	C	95399905	2	2	7	1	0	0	0	0	0	0	0	1	11647	1490	52	4		4	PDE6C	10	95399905	Silent	SNP	T	TCGA-2A-A8W3-01A-11D-A377-08		95399905	40134842	25	246											
KCNIP2	30819	broad.mit.edu	37	chr10	103588846	103588846	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	actcacgttcttgaagccccGgtacaggacctgcaactcct	9	9	8	15	2	2	1	1	1	1	0	3	2	3	2	4	2	4	3	4	2	3	3			TCGA-2A-A8W3-01A-11D-A377-08	TCGA-2A-A8W3-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8c4b6f6-86d6-48a2-bbfb-7b8da1493669	a7e479c1-0527-4958-9741-e038dcfc931f	g.chr10:103588846G>A	ENST00000356640.2	-	4	609	c.334C>T	c.(334-336)Cgg>Tgg	p.R112W	KCNIP2_ENST00000370046.1_Missense_Mutation_p.R62W|KCNIP2_ENST00000461105.1_Missense_Mutation_p.R127W|KCNIP2_ENST00000343195.4_Missense_Mutation_p.R62W|KCNIP2_ENST00000348850.5_Missense_Mutation_p.R67W|KCNIP2_ENST00000353068.3_Missense_Mutation_p.R62W|KCNIP2_ENST00000358038.3_Missense_Mutation_p.R94W|KCNIP2-AS1_ENST00000412353.1_RNA|KCNIP2_ENST00000355657.2_5'UTR	NM_014591.4|NM_173191.2	NP_055406.2|NP_775283.1	Q9NS61	KCIP2_HUMAN	Kv channel interacting protein 2	112	EF-hand 1; degenerate. {ECO:0000255|PROSITE-ProRule:PRU00448}.				clustering of voltage-gated potassium channels (GO:0045163)|detection of calcium ion (GO:0005513)|membrane repolarization (GO:0086009)|muscle contraction (GO:0006936)|potassium ion export (GO:0071435)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of cation channel activity (GO:2001257)|regulation of heart contraction (GO:0008016)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|voltage-gated potassium channel complex (GO:0008076)	A-type (transient outward) potassium channel activity (GO:0005250)|calcium ion binding (GO:0005509)|ER retention sequence binding (GO:0046923)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|potassium channel regulator activity (GO:0015459)|protein N-terminus binding (GO:0047485)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	11		Colorectal(252;0.122)		Epithelial(162;4.93e-09)|all cancers(201;2.63e-07)		TTGAAGCCCCGGTACAGGACC	0.582																																						ENST00000358038.3																			0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	11						c.(280-282)Cgg>Tgg		Kv channel interacting protein 2							96	78	84					10																	103588846		2203	4300	6503	SO:0001583	missense	30819				clustering of voltage-gated potassium channels|detection of calcium ion|muscle contraction|regulation of heart contraction|signal transduction|synaptic transmission	cytoplasm|voltage-gated potassium channel complex	A-type (transient outward) potassium channel activity|calcium ion binding|ER retention sequence binding|identical protein binding|protein N-terminus binding	g.chr10:103588846G>A		CCDS7521.1, CCDS7522.1, CCDS7523.1, CCDS7524.1, CCDS7525.1, CCDS7526.1, CCDS41562.1	10q24.32	2013-09-20	2001-11-29		ENSG00000120049	ENSG00000120049		"EF-hand domain containing"	15522	protein-coding gene	gene with protein product		604661	"Kv channel-interacting protein 2"			10676964	Standard	NM_173192		Approved	KCHIP2	uc001kuc.3	Q9NS61	OTTHUMG00000018937	ENST00000356640.2:c.334C>T	10.37:g.103588846G>A	ENSP00000349055:p.Arg112Trp					KCNIP2_ENST00000348850.5_Missense_Mutation_p.R67W|KCNIP2_ENST00000356640.2_Missense_Mutation_p.R112W|KCNIP2_ENST00000370046.1_Missense_Mutation_p.R62W|KCNIP2_ENST00000343195.4_Missense_Mutation_p.R62W|KCNIP2_ENST00000353068.3_Missense_Mutation_p.R62W|KCNIP2_ENST00000461105.1_Missense_Mutation_p.R127W|KCNIP2_ENST00000355657.2_5'UTR	p.R94W	NM_173192.2|NM_173193.2|NM_173195.2	NP_775284.1|NP_775285.1|NP_775287.1	Q9NS61	KCIP2_HUMAN		Epithelial(162;4.93e-09)|all cancers(201;2.63e-07)	3	631	-		Colorectal(252;0.122)	112			EF-hand 1; degenerate.		A6NJE5|A8MQ75|Q3YAC6|Q3YAC8|Q3YAC9|Q7Z6F1|Q96K86|Q96T41|Q96T42|Q96T43|Q96T44|Q9H0N4|Q9HD10|Q9HD11|Q9NS60|Q9NY10|Q9NZI1	Missense_Mutation	SNP	ENST00000356640.2	37	c.280C>T	CCDS7522.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.120062	0.77323	.	.	ENSG00000120049	ENST00000348850;ENST00000358038;ENST00000370059;ENST00000356640;ENST00000370046;ENST00000353068;ENST00000461105;ENST00000343195;ENST00000239117	T;T;T;T;T;T;T;T	0.27720	1.65;1.65;1.65;1.65;1.65;1.65;1.65;1.65	5.1	-1.52	0.08637	EF-hand-like domain (1);	0.062772	0.64402	D	0.000020	T	0.59115	0.2170	M	0.93594	3.435	0.48632	D	0.999682	D;D;D;D;D;D;D;D;D;D	0.89917	0.999;0.994;0.991;0.984;0.991;0.999;0.985;0.995;1.0;0.998	D;D;P;P;P;D;P;P;D;D	0.70487	0.969;0.932;0.796;0.63;0.796;0.969;0.891;0.796;0.957;0.929	T	0.68405	-0.5417	10	0.87932	D	0	.	11.9268	0.52825	0.0:0.0919:0.4558:0.4522	.	62;67;62;62;62;94;62;127;112;67	Q9NS61-9;B4DW99;Q9NS61-5;Q3YAC7;Q9NS61-3;Q9NS61-2;Q9NS61-7;Q9NS61-6;Q9NS61;Q3YAC6	.;.;.;.;.;.;.;.;KCIP2_HUMAN;.	W	67;94;94;112;62;62;127;62;62	ENSP00000239118:R67W;ENSP00000350733:R94W;ENSP00000349055:R112W;ENSP00000359063:R62W;ENSP00000341624:R62W;ENSP00000420040:R127W;ENSP00000344169:R62W;ENSP00000239117:R62W	ENSP00000239117:R62W	R	-	1	2	KCNIP2	103578836	0.961000	0.32948	0.985000	0.45067	0.992000	0.81027	-0.008000	0.12788	-0.122000	0.11766	0.561000	0.74099	CGG		0.582	KCNIP2-009	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000049973.1			9	17	0	0	0	1	0	9	17					A	103588846	G	A	103588846	3	1	7	1	0	0	0	0	1	0	0	0	8040	1115	39	2	574	2	KCNIP2	10	103588846	Missense_Mutation	SNP	G	TCGA-2A-A8W3-01A-11D-A377-08	8188941	103588846	31945901	26	247											
TACC2	10579	broad.mit.edu	37	chr10	123844843	123844843	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aacgagacagaagttgcctgCactaggggagaagcggccag	13	4	15	9	2	0	3	0	0	0	3	0	5	0	3	2	3	4	2	2	3	4	2			TCGA-2A-A8W3-01A-11D-A377-08	TCGA-2A-A8W3-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8c4b6f6-86d6-48a2-bbfb-7b8da1493669	a7e479c1-0527-4958-9741-e038dcfc931f	g.chr10:123844843C>T	ENST00000369005.1	+	4	3168	c.2828C>T	c.(2827-2829)gCa>gTa	p.A943V	TACC2_ENST00000513429.1_Intron|TACC2_ENST00000515603.1_Missense_Mutation_p.A943V|TACC2_ENST00000358010.1_Intron|TACC2_ENST00000453444.2_Missense_Mutation_p.A943V|TACC2_ENST00000515273.1_Missense_Mutation_p.A943V|TACC2_ENST00000334433.3_Missense_Mutation_p.A943V	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	943					astral microtubule organization (GO:0030953)|cerebral cortex development (GO:0021987)|interkinetic nuclear migration (GO:0022027)|neurogenesis (GO:0022008)|regulation of microtubule-based process (GO:0032886)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleus (GO:0005634)	nuclear hormone receptor binding (GO:0035257)			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				AAGTTGCCTGCACTAGGGGAG	0.527																																						ENST00000369005.1																			0				NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83						c.(2827-2829)gCa>gTa		transforming, acidic coiled-coil containing protein 2							98	101	100					10																	123844843		2203	4300	6503	SO:0001583	missense	10579					microtubule organizing center|nucleus	nuclear hormone receptor binding	g.chr10:123844843C>T	AF095791	CCDS7625.1, CCDS7626.1, CCDS7627.1, CCDS7628.1	10q26	2008-07-29			ENSG00000138162	ENSG00000138162			11523	protein-coding gene	gene with protein product		605302				14767476	Standard	XM_005269388		Approved	AZU-1	uc001lfv.3	O95359	OTTHUMG00000019181	ENST00000369005.1:c.2828C>T	10.37:g.123844843C>T	ENSP00000358001:p.Ala943Val					TACC2_ENST00000334433.3_Missense_Mutation_p.A943V|TACC2_ENST00000515273.1_Missense_Mutation_p.A943V|TACC2_ENST00000515603.1_Missense_Mutation_p.A943V|TACC2_ENST00000358010.1_Intron|TACC2_ENST00000513429.1_Intron|TACC2_ENST00000453444.2_Missense_Mutation_p.A943V	p.A943V	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN			4	3168	+		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)	943					Q4VXL0|Q4VXL3|Q4VXL6|Q4VXL7|Q5U5T7|Q86WG6|Q86WG7|Q8TCK9|Q9BVQ1|Q9NZ41|Q9NZR5	Missense_Mutation	SNP	ENST00000369005.1	37	c.2828C>T	CCDS7626.1	.	.	.	.	.	.	.	.	.	.	C	8.661	0.900520	0.17686	.	.	ENSG00000138162	ENST00000369005;ENST00000515273;ENST00000515603;ENST00000334433;ENST00000453444;ENST00000340076	T;T;T;T;T	0.03065	4.06;4.09;4.1;4.06;4.09	4.99	0.51	0.16983	.	0.717864	0.11504	N	0.557418	T	0.03390	0.0098	L	0.34521	1.04	0.09310	N	1	B;B;B	0.13145	0.007;0.007;0.007	B;B;B	0.08055	0.003;0.003;0.003	T	0.40232	-0.9574	10	0.72032	D	0.01	-1.4161	6.445	0.21871	0.1292:0.6115:0.0:0.2592	.	943;943;943	E9PBC6;E7EMZ9;O95359	.;.;TACC2_HUMAN	V	943;943;943;943;943;933	ENSP00000358001:A943V;ENSP00000424467:A943V;ENSP00000427618:A943V;ENSP00000334280:A943V;ENSP00000395048:A943V	ENSP00000334280:A943V	A	+	2	0	TACC2	123834833	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.537000	0.02206	0.051000	0.15978	-1.193000	0.01689	GCA		0.527	TACC2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090004.1			22	66	0	0	0	1	0	22	66					T	123844843	C	T	123844843	3	4	7	1	0	0	0	0	1	0	0	0	15499	710	25	3	2838	3	TACC2	10	123844843	Missense_Mutation	SNP	C	TCGA-2A-A8W3-01A-11D-A377-08	20255997	123844843	11689904	27	248											
IGSF22	283284	broad.mit.edu	37	chr11	18738274	18738274	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctcttgcccaaccactcaCggtcaacagtgagctgggcc	8	7	11	15	1	3	1	2	1	1	0	3	1	3	1	3	3	4	2	3	3	2	1			TCGA-2A-A8W3-01A-11D-A377-08	TCGA-2A-A8W3-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8c4b6f6-86d6-48a2-bbfb-7b8da1493669	a7e479c1-0527-4958-9741-e038dcfc931f	g.chr11:18738274C>T	ENST00000513874.1	-	10	1386		c.e10+1		RP11-1081L13.4_ENST00000527285.1_RNA	NM_173588.3	NP_775859	Q8N9C0	IGS22_HUMAN	immunoglobulin superfamily, member 22											NS(2)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(20)|ovary(4)|prostate(4)|skin(3)	56						CAACCACTCACGGTCAACAGT	0.517																																						ENST00000513874.1																			0				NS(2)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(20)|ovary(4)|prostate(4)|skin(3)	56						c.e10+1		immunoglobulin superfamily, member 22							88	86	87					11																	18738274		1955	4146	6101	SO:0001630	splice_region_variant	283284							g.chr11:18738274C>T	AK095113	CCDS41625.1, CCDS41625.2	11p15.1	2014-06-06			ENSG00000179057	ENSG00000179057		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	26750	protein-coding gene	gene with protein product							Standard	NM_173588		Approved	FLJ37794	uc009yht.2	Q8N9C0	OTTHUMG00000160502	ENST00000513874.1:c.1246+1G>A	11.37:g.18738274C>T						RP11-1081L13.4_ENST00000527285.1_RNA		NM_173588.3	NP_775859.3	Q8N9C0	IGS22_HUMAN			10	1386	-								A6NNA0|D6RGV7	Splice_Site	SNP	ENST00000513874.1	37		CCDS41625.2	.	.	.	.	.	.	.	.	.	.	C	14.50	2.553672	0.45487	.	.	ENSG00000179057	ENST00000513874	.	.	.	4.77	2.81	0.32909	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.0909	0.30801	0.0:0.7192:0.0:0.2808	.	.	.	.	.	-1	.	.	.	-	.	.	IGSF22	18694850	1.000000	0.71417	0.961000	0.40146	0.681000	0.39784	1.355000	0.34068	0.367000	0.24454	0.655000	0.94253	.		0.517	IGSF22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360850.2	NM_173588	Intron	16	44	0	0	0	1	0	16	44					T	18738274	C	T	18738274	5	4	7	1	0	0	0	0	0	0	1	0	7600	550	19	1	2789	1	IGSF22	11	18738274	Splice_Site	SNP	C	TCGA-2A-A8W3-01A-11D-A377-08		18738274	116268242	28	249											
SERPING1	710	broad.mit.edu	37	chr11	57365774	57365776	+	In_Frame_Del	DEL	CTG	CTG	-																															ggctgaccctgctgaccctcCtgctgctgctgctggctggg																										TCGA-2A-A8W3-01A-11D-A377-08	TCGA-2A-A8W3-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8c4b6f6-86d6-48a2-bbfb-7b8da1493669	a7e479c1-0527-4958-9741-e038dcfc931f	g.chr11:57365774_57365776delCTG	ENST00000278407.4	+	2	258_260	c.31_33delCTG	c.(31-33)ctgdel	p.L15del	SERPING1_ENST00000403558.1_In_Frame_Del_p.L49del|SERPING1_ENST00000378324.2_Intron|SERPING1_ENST00000340687.6_In_Frame_Del_p.L15del|SERPING1_ENST00000378323.4_In_Frame_Del_p.L15del	NM_000062.2	NP_000053.2	P05155	IC1_HUMAN	serpin peptidase inhibitor, clade G (C1 inhibitor), member 1	15					blood circulation (GO:0008015)|blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|complement activation, classical pathway (GO:0006958)|fibrinolysis (GO:0042730)|innate immune response (GO:0045087)|negative regulation of complement activation, lectin pathway (GO:0001869)|negative regulation of endopeptidase activity (GO:0010951)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule lumen (GO:0031093)	serine-type endopeptidase inhibitor activity (GO:0004867)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(11)|pancreas(2)|prostate(1)|urinary_tract(1)	27						GCTGACCCTCCTGCTGCTGCTGC	0.714																																						ENST00000403558.1																			0				central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(11)|pancreas(2)|prostate(1)|urinary_tract(1)	27						c.(133-135)del		serpin peptidase inhibitor, clade G (C1 inhibitor), member 1			,	70,4042		1,68,1987					,	0.6	1			7	176,7928		6,164,3882	no	coding,coding	SERPING1	NM_001032295.1,NM_000062.2	,	7,232,5869	A1A1,A1R,RR		2.1718,1.7023,2.0138	,	,		246,11970				SO:0001651	inframe_deletion	710				blood circulation|blood coagulation, intrinsic pathway|complement activation, classical pathway|innate immune response|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation	extracellular space|platelet alpha granule lumen	protein binding|serine-type endopeptidase inhibitor activity	g.chr11:57365774_57365776delCTG	X54486	CCDS7962.1	11q12.1	2014-09-17	2008-07-31		ENSG00000149131	ENSG00000149131		"Serine (or cysteine) peptidase inhibitors"	1228	protein-coding gene	gene with protein product	"plasma protease C1 inhibitor", "angioedema, hereditary"	606860	"serine (or cysteine) proteinase inhibitor, clade G (C1 inhibitor), member 1, (angioedema, hereditary)"	C1NH		2026152, 24172014	Standard	NM_000062		Approved	C1IN, C1-INH, HAE1, HAE2	uc001nkp.1	P05155	OTTHUMG00000150304	ENST00000278407.4:c.31_33delCTG	11.37:g.57365783_57365785delCTG	ENSP00000278407:p.Leu15del					SERPING1_ENST00000378323.4_In_Frame_Del_p.L15del|SERPING1_ENST00000378324.2_Intron|SERPING1_ENST00000340687.6_In_Frame_Del_p.L15del|SERPING1_ENST00000278407.4_In_Frame_Del_p.L15del	p.L49del	NM_001032295.1	NP_001027466.1	P05155	IC1_HUMAN			1	499_501	+			15					A6NMU0|A8KAI9|B2R6L5|B4E1F0|B4E1H2|Q16304|Q547W3|Q59EI5|Q7Z455|Q96FE0|Q9UC49|Q9UCF9	In_Frame_Del	DEL	ENST00000278407.4	37	c.133_135delCTG	CCDS7962.1																																																																																				0.714	SERPING1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317465.1	NM_000062		4	8						4	8	---	---	---	---	-	57365776	CTG	-	57365774	7	5	7	1	0	1	0	1	0	0	0	0	14116	680	24	0	33	0	SERPING1	11	57365774	In_Frame_Del	DEL	CTG	TCGA-2A-A8W3-01A-11D-A377-08	38627500	57365774	77640742	29	250											
ARHGEF17	9828	broad.mit.edu	37	chr11	73022674	73022674	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cctacccgagcccatcccacGttgcaggcaccatcgctcga	8	6	8	19	4	0	0	0	0	0	0	3	2	1	0	5	1	3	4	5	1	1	2	rs377593513		TCGA-2A-A8W3-01A-11D-A377-08	TCGA-2A-A8W3-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8c4b6f6-86d6-48a2-bbfb-7b8da1493669	a7e479c1-0527-4958-9741-e038dcfc931f	g.chr11:73022674G>A	ENST00000263674.3	+	1	3341	c.2991G>A	c.(2989-2991)acG>acA	p.T997T	RP11-800A3.7_ENST00000546324.1_RNA	NM_014786.3	NP_055601.2	Q96PE2	ARHGH_HUMAN	Rho guanine nucleotide exchange factor (GEF) 17	997	Pro-rich.				actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(2)	32						CCCATCCCACGTTGCAGGCAC	0.602																																						ENST00000263674.3																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(2)	32						c.(2989-2991)acG>acA		Rho guanine nucleotide exchange factor (GEF) 17							68	63	65					11																	73022674		2200	4293	6493	SO:0001819	synonymous_variant	9828				actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity	g.chr11:73022674G>A	AF378754	CCDS8221.1	11q13.3	2011-11-16			ENSG00000110237	ENSG00000110237		"Rho guanine nucleotide exchange factors"	21726	protein-coding gene	gene with protein product	"Rho-specific guanine-nucleotide exchange factor 164 kDa", "tumor endothelial marker 4"					11559528, 12071859	Standard	NM_014786		Approved	TEM4, KIAA0337, p164-RhoGEF	uc001otu.3	Q96PE2	OTTHUMG00000167971	ENST00000263674.3:c.2991G>A	11.37:g.73022674G>A							p.T997T	NM_014786.3	NP_055601.2	Q96PE2	ARHGH_HUMAN			1	3341	+			997			Pro-rich.		B2RP20|Q86XU2|Q8N2S0|Q9Y4G3	Silent	SNP	ENST00000263674.3	37	c.2991G>A	CCDS8221.1	.	.	.	.	.	.	.	.	.	.	G	3.366	-0.129361	0.06753	.	.	ENSG00000110237	ENST00000544519	.	.	.	4.49	-8.98	0.00754	.	.	.	.	.	T	0.26122	0.0637	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.24012	-1.0172	4	.	.	.	0.5623	8.804	0.34927	0.0924:0.3396:0.4915:0.0765	.	.	.	.	H	22	.	.	R	+	2	0	ARHGEF17	72700322	0.000000	0.05858	0.000000	0.03702	0.489000	0.33432	-3.391000	0.00487	-2.782000	0.00360	-0.793000	0.03317	CGT		0.602	ARHGEF17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397365.1	NM_014786		8	30	0	0	0	1	0	8	30					A	73022674	G	A	73022674	2	1	7	1	0	0	0	0	0	0	0	1	900	1132	40	1		1	ARHGEF17	11	73022674	Silent	SNP	G	TCGA-2A-A8W3-01A-11D-A377-08	15656900	73022674	61983842	30	251											
USP35	57558	broad.mit.edu	37	chr11	77917055	77917055	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	acatgctatgtcaacagcatCcttcaggccttattcatggc	10	12	7	12	0	3	0	3	0	0	0	4	0	4	0	2	2	3	2	2	2	3	4			TCGA-2A-A8W3-01A-11D-A377-08	TCGA-2A-A8W3-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8c4b6f6-86d6-48a2-bbfb-7b8da1493669	a7e479c1-0527-4958-9741-e038dcfc931f	g.chr11:77917055C>T	ENST00000529308.1	+	7	1626	c.1365C>T	c.(1363-1365)atC>atT	p.I455I	USP35_ENST00000526425.1_Silent_p.I186I|USP35_ENST00000441408.2_Missense_Mutation_p.S40F|USP35_ENST00000530267.1_Silent_p.I23I|USP35_ENST00000530535.1_Intron	NM_020798.2	NP_065849.1	Q9P2H5	UBP35_HUMAN	ubiquitin specific peptidase 35	455	USP.				protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitin-specific protease activity (GO:0004843)			endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(3)|urinary_tract(1)	23	all_cancers(14;3.77e-18)|all_epithelial(13;6.16e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.04e-25)			TCAACAGCATCCTTCAGGCCT	0.547																																						ENST00000441408.2																			0				endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(3)|urinary_tract(1)	23						c.(118-120)tCc>tTc		ubiquitin specific peptidase 35							268	271	270					11																	77917055		2054	4195	6249	SO:0001819	synonymous_variant	57558				ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr11:77917055C>T	AB037793	CCDS41693.1	11q13.4	2008-02-05	2005-08-08			ENSG00000118369		"Ubiquitin-specific peptidases"	20061	protein-coding gene	gene with protein product			"ubiquitin specific protease 35"			12838346	Standard	NM_020798		Approved	KIAA1372	uc021qny.1	Q9P2H5		ENST00000529308.1:c.1365C>T	11.37:g.77917055C>T						USP35_ENST00000530267.1_Silent_p.I23I|USP35_ENST00000529308.1_Silent_p.I455I|USP35_ENST00000526425.1_Silent_p.I186I|USP35_ENST00000530535.1_Intron	p.S40F			Q9P2H5	UBP35_HUMAN	OV - Ovarian serous cystadenocarcinoma(8;1.04e-25)		5	684	+	all_cancers(14;3.77e-18)|all_epithelial(13;6.16e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		0						Missense_Mutation	SNP	ENST00000529308.1	37	c.119C>T	CCDS41693.1	.	.	.	.	.	.	.	.	.	.	C	11.31	1.600990	0.28534	.	.	ENSG00000118369	ENST00000441408	T	0.13307	2.6	4.64	2.66	0.31614	.	.	.	.	.	T	0.15435	0.0372	.	.	.	0.26111	N	0.980686	B	0.28552	0.215	B	0.35607	0.206	T	0.24799	-1.0150	8	0.87932	D	0	-20.1251	11.4555	0.50179	0.0:0.7847:0.1368:0.0784	.	40	E7EWV7	.	F	40	ENSP00000400825:S40F	ENSP00000400825:S40F	S	+	2	0	USP35	77594703	1.000000	0.71417	1.000000	0.80357	0.903000	0.53119	2.549000	0.45803	1.163000	0.42636	0.591000	0.81541	TCC		0.547	USP35-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390026.1	XM_290527		5	298	0	0	0	1	0	5	298					T	77917055	C	T	77917055	2	4	7	1	0	0	0	0	0	0	0	1	17063	845	30	3		3	USP35	11	77917055	Silent	SNP	C	TCGA-2A-A8W3-01A-11D-A377-08	4894381	77917055	57089461	31	252											
PRCP	5547	broad.mit.edu	37	chr11	82560220	82560220	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcctgagaagttaatgggctGcataagtgaagggctccagt	11	10	13	7	0	0	2	0	2	0	1	2	3	2	2	2	2	1	4	2	2	4	2			TCGA-2A-A8W3-01A-11D-A377-08	TCGA-2A-A8W3-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8c4b6f6-86d6-48a2-bbfb-7b8da1493669	a7e479c1-0527-4958-9741-e038dcfc931f	g.chr11:82560220G>A	ENST00000313010.3	-	6	986	c.792C>T	c.(790-792)tgC>tgT	p.C264C	PRCP_ENST00000535099.1_Silent_p.C159C|PRCP_ENST00000393399.2_Silent_p.C285C	NM_005040.2	NP_005031.1	P42785	PCP_HUMAN	prolylcarboxypeptidase (angiotensinase C)	264	SKS domain.				angiogenesis involved in wound healing (GO:0060055)|blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|energy homeostasis (GO:0097009)|glucose homeostasis (GO:0042593)|negative regulation of systemic arterial blood pressure (GO:0003085)|plasma kallikrein-kinin cascade (GO:0002353)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of reactive oxygen species metabolic process (GO:2000377)|regulation of thyroid hormone mediated signaling pathway (GO:0002155)	basal part of cell (GO:0045178)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|plasma membrane (GO:0005886)	serine-type carboxypeptidase activity (GO:0004185)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	17						TTAATGGGCTGCATAAGTGAA	0.438																																						ENST00000313010.3																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	17						c.(790-792)tgC>tgT		prolylcarboxypeptidase (angiotensinase C)							108	103	105					11																	82560220		2203	4300	6503	SO:0001819	synonymous_variant	5547				blood coagulation, intrinsic pathway|proteolysis	lysosome|plasma membrane	protein binding|serine-type carboxypeptidase activity	g.chr11:82560220G>A	BC001500, BI827978, L13977	CCDS8262.1, CCDS41695.1	11q14	2005-10-04				ENSG00000137509			9344	protein-coding gene	gene with protein product		176785				8344943	Standard	NM_199418		Approved	PCP, HUMPCP	uc001ozr.3	P42785		ENST00000313010.3:c.792C>T	11.37:g.82560220G>A						PRCP_ENST00000535099.1_Silent_p.C159C|PRCP_ENST00000393399.2_Silent_p.C285C	p.C264C	NM_005040.2	NP_005031.1	P42785	PCP_HUMAN			6	986	-			264			SKS domain.		A8MU24|B2R7B7|B3KRK5|B5BU34	Silent	SNP	ENST00000313010.3	37	c.792C>T	CCDS8262.1																																																																																				0.438	PRCP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391792.1	NM_005040		4	47	0	0	0	1	0	4	47					A	82560220	G	A	82560220	2	1	7	1	0	0	0	0	0	0	0	1	12449	1311	46	3		3	PRCP	11	82560220	Silent	SNP	G	TCGA-2A-A8W3-01A-11D-A377-08	4643165	82560220	52446296	32	253											
WNK1	65125	broad.mit.edu	37	chr12	994555	994555	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggtagttagcgcacactcaCtagataagacatctcatagc	13	10	8	10	1	2	2	2	0	1	2	3	2	2	2	0	1	2	3	0	1	5	5			TCGA-2A-A8W3-01A-11D-A377-08	TCGA-2A-A8W3-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8c4b6f6-86d6-48a2-bbfb-7b8da1493669	a7e479c1-0527-4958-9741-e038dcfc931f	g.chr12:994555C>G	ENST00000315939.6	+	19	5228	c.4585C>G	c.(4585-4587)Cta>Gta	p.L1529V	WNK1_ENST00000530271.2_Missense_Mutation_p.L2027V|WNK1_ENST00000537687.1_Missense_Mutation_p.L1789V|WNK1_ENST00000340908.4_Missense_Mutation_p.L1122V|WNK1_ENST00000535572.1_Missense_Mutation_p.L1282V	NM_018979.3	NP_061852.3	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1	1529					intracellular signal transduction (GO:0035556)|ion transport (GO:0006811)|negative regulation of pancreatic juice secretion (GO:0090188)|negative regulation of phosphatase activity (GO:0010923)|neuron development (GO:0048666)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of systemic arterial blood pressure (GO:0003084)|protein phosphorylation (GO:0006468)|regulation of cellular process (GO:0050794)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|chloride channel inhibitor activity (GO:0019869)|phosphatase binding (GO:0019902)|protein kinase inhibitor activity (GO:0004860)|protein serine/threonine kinase activity (GO:0004674)			breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			CGCACACTCACTAGATAAGAC	0.468																																					Colon(19;451 567 6672 12618 28860)	ENST00000537687.1																			0				breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104						c.(5365-5367)Cta>Gta		WNK lysine deficient protein kinase 1							406	364	378					12																	994555		2203	4300	6503	SO:0001583	missense	65125				intracellular protein kinase cascade|ion transport|neuron development	cytoplasm	ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity	g.chr12:994555C>G	AJ296290	CCDS8506.1, CCDS53731.1, CCDS73419.1	12p13.3	2014-09-17	2005-01-19	2005-01-21	ENSG00000060237	ENSG00000060237			14540	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 167"	605232	"protein kinase, lysine deficient 1", "hereditary sensory neuropathy, type II"	PRKWNK1, HSN2			Standard	NM_001184985		Approved	HSAN2, PPP1R167	uc031qfk.1	Q9H4A3	OTTHUMG00000090321	ENST00000315939.6:c.4585C>G	12.37:g.994555C>G	ENSP00000313059:p.Leu1529Val					WNK1_ENST00000530271.2_Missense_Mutation_p.L2027V|WNK1_ENST00000315939.6_Missense_Mutation_p.L1529V|WNK1_ENST00000340908.4_Missense_Mutation_p.L1122V|WNK1_ENST00000535572.1_Missense_Mutation_p.L1282V	p.L1789V	NM_001184985.1|NM_213655.4	NP_001171914.1|NP_998820.3	Q9H4A3	WNK1_HUMAN	Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)		19	6008	+	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		1529					A1L4B0|C5HTZ5|C5HTZ6|C5HTZ7|H6WZW3|O15052|P54963|Q4VBX9|Q6IFS5|Q86WL5|Q8N673|Q96CZ6|Q9P1S9	Missense_Mutation	SNP	ENST00000315939.6	37	c.5365C>G	CCDS8506.1	.	.	.	.	.	.	.	.	.	.	C	7.946	0.743734	0.15642	.	.	ENSG00000060237	ENST00000535572;ENST00000315939;ENST00000537687;ENST00000252477;ENST00000530271;ENST00000340908	T;T;T;T;T	0.62639	0.01;0.01;0.01;0.01;0.01	5.3	2.45	0.29901	.	0.454838	0.19188	N	0.120484	T	0.51092	0.1654	L	0.47716	1.5	0.09310	N	1	P;P;P	0.41848	0.763;0.649;0.666	B;B;B	0.39660	0.306;0.23;0.115	T	0.37337	-0.9710	10	0.35671	T	0.21	-11.6328	8.1467	0.31115	0.0:0.6791:0.1157:0.2052	.	1282;1282;1529	Q9H4A3-2;F5GWT4;Q9H4A3	.;.;WNK1_HUMAN	V	1282;1529;1789;702;2027;1122	ENSP00000441972:L1282V;ENSP00000313059:L1529V;ENSP00000444465:L1789V;ENSP00000433548:L2027V;ENSP00000341292:L1122V	ENSP00000252477:L702V	L	+	1	2	WNK1	864816	0.002000	0.14202	0.980000	0.43619	0.689000	0.40095	0.797000	0.26999	0.731000	0.32448	-0.140000	0.14226	CTA		0.468	WNK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206683.1	NM_018979		64	166	0	0	0	1	0	64	166					G	994555	C	G	994555	3	3	7	1	0	0	0	0	1	0	0	0	17374	564	20	5	6161	5	WNK1	12	994555	Missense_Mutation	SNP	C	TCGA-2A-A8W3-01A-11D-A377-08		994555	132857340	33	254											
C12orf74	338809	broad.mit.edu	37	chr12	93100898	93100898	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cctgcccagccccaccctacGacaccctagtcctcaggtaa	9	6	6	20	1	1	0	1	0	0	0	2	1	2	0	7	1	3	1	7	1	3	3			TCGA-2A-A8W3-01A-11D-A377-08	TCGA-2A-A8W3-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8c4b6f6-86d6-48a2-bbfb-7b8da1493669	a7e479c1-0527-4958-9741-e038dcfc931f	g.chr12:93100898G>A	ENST00000397833.3	+	2	942	c.491G>A	c.(490-492)cGa>cAa	p.R164Q	C12orf74_ENST00000544406.2_Missense_Mutation_p.R164Q	NM_001037671.3|NM_001178097.2	NP_001032760.1|NP_001171568.1	Q32Q52	CL074_HUMAN	chromosome 12 open reading frame 74	164										kidney(1)|large_intestine(2)|lung(4)|prostate(1)|urinary_tract(2)	10						CCCACCCTACGACACCCTAGT	0.552																																						ENST00000544406.2																			0				kidney(1)|large_intestine(2)|lung(4)|prostate(1)|urinary_tract(2)	10						c.(490-492)cGa>cAa		chromosome 12 open reading frame 74							26	28	27					12																	93100898		1976	4145	6121	SO:0001583	missense	338809							g.chr12:93100898G>A	BC043363	CCDS41819.1, CCDS53818.1	12q22	2012-08-16			ENSG00000214215	ENSG00000214215			27887	protein-coding gene	gene with protein product						12477932	Standard	NM_001037671		Approved		uc001tch.2	Q32Q52	OTTHUMG00000170105	ENST00000397833.3:c.491G>A	12.37:g.93100898G>A	ENSP00000380933:p.Arg164Gln					C12orf74_ENST00000397833.3_Missense_Mutation_p.R164Q	p.R164Q			Q32Q52	CL074_HUMAN			2	757	+			164					F5H4P0	Missense_Mutation	SNP	ENST00000397833.3	37	c.491G>A	CCDS41819.1	.	.	.	.	.	.	.	.	.	.	G	2.937	-0.219785	0.06061	.	.	ENSG00000214215	ENST00000397833;ENST00000544406	.	.	.	4.81	-9.61	0.00550	.	.	.	.	.	T	0.11495	0.0280	N	0.04508	-0.205	0.09310	N	1	B;B	0.12013	0.005;0.005	B;B	0.04013	0.001;0.001	T	0.16482	-1.0401	8	0.15499	T	0.54	8.7047	6.1836	0.20486	0.5959:0.1215:0.206:0.0766	.	164;164	F5H4P0;Q32Q52	.;CL074_HUMAN	Q	164	.	ENSP00000380933:R164Q	R	+	2	0	C12orf74	91625029	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.097000	0.01348	-3.161000	0.00228	-1.134000	0.01955	CGA		0.552	C12orf74-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000407285.1	NM_001037671		6	20	0	0	0	1	0	6	20					A	93100898	G	A	93100898	3	1	7	1	0	0	0	0	1	0	0	0	1714	1058	37	2	493	2	C12orf74	12	93100898	Missense_Mutation	SNP	G	TCGA-2A-A8W3-01A-11D-A377-08	92106343	93100898	40750997	34	255											
SIPA1L1	26037	broad.mit.edu	37	chr14	72137985	72137985	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcataaatcggagaagtttcGggccatggcaactcggaccc	11	8	11	11	3	1	1	1	0	0	1	4	3	1	2	2	4	1	2	2	4	4	2			TCGA-2A-A8W3-01A-11D-A377-08	TCGA-2A-A8W3-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8c4b6f6-86d6-48a2-bbfb-7b8da1493669	a7e479c1-0527-4958-9741-e038dcfc931f	g.chr14:72137985G>A	ENST00000555818.1	+	8	2753	c.2405G>A	c.(2404-2406)cGg>cAg	p.R802Q	SIPA1L1_ENST00000537413.1_Missense_Mutation_p.R277Q|SIPA1L1_ENST00000381232.3_Missense_Mutation_p.R802Q|SIPA1L1_ENST00000358550.2_Missense_Mutation_p.R802Q	NM_001284247.1|NM_015556.1	NP_001271176.1|NP_056371.1	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like 1	802	Rap-GAP. {ECO:0000255|PROSITE- ProRule:PRU00165}.				actin cytoskeleton reorganization (GO:0031532)|activation of Rap GTPase activity (GO:0032861)|ephrin receptor signaling pathway (GO:0048013)|regulation of axonogenesis (GO:0050770)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of Rap GTPase activity (GO:0032317)|regulation of synaptic plasticity (GO:0048167)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	GTPase activator activity (GO:0005096)			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		GAGAAGTTTCGGGCCATGGCA	0.478																																						ENST00000555818.1																			0				NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78						c.(2404-2406)cGg>cAg		signal-induced proliferation-associated 1 like 1							95	95	95					14																	72137985		2203	4300	6503	SO:0001583	missense	26037				actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis	cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome	GTPase activator activity	g.chr14:72137985G>A	AB007900	CCDS9807.1, CCDS61490.1, CCDS61491.1	14q24.1	2003-12-11				ENSG00000197555			20284	protein-coding gene	gene with protein product						9858596	Standard	XM_005267514		Approved	KIAA0440, E6TP1	uc001xmr.1	O43166		ENST00000555818.1:c.2405G>A	14.37:g.72137985G>A	ENSP00000450832:p.Arg802Gln					SIPA1L1_ENST00000381232.3_Missense_Mutation_p.R802Q|SIPA1L1_ENST00000358550.2_Missense_Mutation_p.R802Q|SIPA1L1_ENST00000537413.1_Missense_Mutation_p.R277Q	p.R802Q	NM_015556.1	NP_056371.1	O43166	SI1L1_HUMAN		all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)	8	2753	+			802			Rap-GAP.		J3KP19|O95321|Q9UDU4|Q9UNU4	Missense_Mutation	SNP	ENST00000555818.1	37	c.2405G>A	CCDS9807.1	.	.	.	.	.	.	.	.	.	.	G	25.5	4.639706	0.87760	.	.	ENSG00000197555	ENST00000381232;ENST00000555818;ENST00000358550;ENST00000537413	T;T;T;T	0.53206	0.63;0.63;0.63;0.63	6.05	6.05	0.98169	Rap/ran-GAP (2);	0.111699	0.64402	D	0.000007	T	0.53029	0.1771	N	0.25890	0.77	0.45330	D	0.998325	D;B;D;D;D	0.71674	0.991;0.124;0.996;0.998;0.995	P;B;P;P;P	0.61658	0.856;0.02;0.871;0.892;0.784	T	0.49113	-0.8973	10	0.44086	T	0.13	-21.8731	15.3331	0.74229	0.0:0.0:0.8603:0.1397	.	277;802;277;802;802	F5GYF8;A6H8W6;B4DYX7;O43166-2;O43166	.;.;.;.;SI1L1_HUMAN	Q	802;802;802;277	ENSP00000370630:R802Q;ENSP00000450832:R802Q;ENSP00000351352:R802Q;ENSP00000440682:R277Q	ENSP00000351352:R802Q	R	+	2	0	SIPA1L1	71207738	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.838000	0.86804	2.878000	0.98634	0.650000	0.86243	CGG		0.478	SIPA1L1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412806.1	NM_015556		12	45	0	0	0	1	0	12	45					A	72137985	G	A	72137985	3	1	7	1	0	0	0	0	1	0	0	0	14329	1116	39	2	2431	2	SIPA1L1	14	72137985	Missense_Mutation	SNP	G	TCGA-2A-A8W3-01A-11D-A377-08		72137985	35211555	35	256											
OCA2	4948	broad.mit.edu	37	chr15	28116315	28116315	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctcaccatggtagcagtgaaCgggatgttgtcaatcaggga	11	9	13	8	1	3	1	3	1	0	0	3	3	3	3	1	3	2	3	1	3	3	2	rs41307118		TCGA-2A-A8W3-01A-11D-A377-08	TCGA-2A-A8W3-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8c4b6f6-86d6-48a2-bbfb-7b8da1493669	a7e479c1-0527-4958-9741-e038dcfc931f	g.chr15:28116315C>T	ENST00000354638.3	-	21	2384	c.2229G>A	c.(2227-2229)ccG>ccA	p.P743P	OCA2_ENST00000353809.5_Silent_p.P719P	NM_000275.2	NP_000266.2	Q04671	P_HUMAN	oculocutaneous albinism II	743			P -> L (in OCA2 and unclassified OCA). {ECO:0000269|PubMed:10649493, ECO:0000269|PubMed:12876664}.		cell proliferation (GO:0008283)|eye pigment biosynthetic process (GO:0006726)|melanin biosynthetic process (GO:0042438)|melanocyte differentiation (GO:0030318)|spermatid development (GO:0007286)|tyrosine transport (GO:0015828)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|melanosome membrane (GO:0033162)	L-tyrosine transmembrane transporter activity (GO:0005302)|transporter activity (GO:0005215)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(48)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234)		all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045)		TAGCAGTGAACGGGATGTTGT	0.592									Oculocutaneous Albinism																													ENST00000354638.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(48)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	85						c.(2227-2229)ccG>ccA		oculocutaneous albinism II							159	121	134					15																	28116315		2203	4300	6503	SO:0001819	synonymous_variant	4948	Oculocutaneous Albinism	Familial Cancer Database		eye pigment biosynthetic process	endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane|melanosome membrane	arsenite transmembrane transporter activity|citrate transmembrane transporter activity|L-tyrosine transmembrane transporter activity|protein binding	g.chr15:28116315C>T		CCDS10020.1, CCDS73701.1	15q12	2013-01-08	2008-01-30		ENSG00000104044	ENSG00000104044			8101	protein-coding gene	gene with protein product	"melanocyte-specific transporter protein"	611409	"oculocutaneous albinism II (pink-eye dilution (murine) homolog)", "eye color 3 (brown)", "eye color 2 (central brown)", "oculocutaneous albinism II (pink-eye dilution homolog, mouse)"	D15S12, P, EYCL3, EYCL2			Standard	NM_000275		Approved	BEY2, EYCL, BEY, BEY1	uc001zbh.4	Q04671	OTTHUMG00000128871	ENST00000354638.3:c.2229G>A	15.37:g.28116315C>T						OCA2_ENST00000353809.5_Silent_p.P719P	p.P743P	NM_000275.2	NP_000266.2	Q04671	P_HUMAN		all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045)	21	2384	-		all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234)	743		P -> L (in OCA2 and unclassified OCA).			Q15211|Q15212|Q96EN1|Q9UMI5	Silent	SNP	ENST00000354638.3	37	c.2229G>A	CCDS10020.1																																																																																				0.592	OCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250823.1	NM_000275		8	23	0	0	0	1	0	8	23					T	28116315	C	T	28116315	2	4	7	1	0	0	0	0	0	0	0	1	10815	523	19	1		1	OCA2	15	28116315	Silent	SNP	C	TCGA-2A-A8W3-01A-11D-A377-08		28116315	74415077	36	257											
MFGE8	4240	broad.mit.edu	37	chr15	89449106	89449107	+	Frame_Shift_Ins	INS	-	-	T																															acaggttgacatgcaccgcgINStttttgttccagttacccac																										TCGA-2A-A8W3-01A-11D-A377-08	TCGA-2A-A8W3-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8c4b6f6-86d6-48a2-bbfb-7b8da1493669	a7e479c1-0527-4958-9741-e038dcfc931f	g.chr15:89449106_89449107insT	ENST00000566497.1	-	5	627_628	c.566_567insA	c.(565-567)aacfs	p.N189fs	MFGE8_ENST00000542878.1_Frame_Shift_Ins_p.N145fs|MFGE8_ENST00000559997.1_Intron|MFGE8_ENST00000268150.8_Frame_Shift_Ins_p.N189fs|MFGE8_ENST00000268151.7_Frame_Shift_Ins_p.N189fs|MFGE8_ENST00000539437.1_Frame_Shift_Ins_p.N181fs			Q08431	MFGM_HUMAN	milk fat globule-EGF factor 8 protein	189	F5/8 type C 1. {ECO:0000255|PROSITE- ProRule:PRU00081}.				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|phagocytosis, engulfment (GO:0006911)|phagocytosis, recognition (GO:0006910)|positive regulation of apoptotic cell clearance (GO:2000427)|single fertilization (GO:0007338)|viral process (GO:0016032)	external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of plasma membrane (GO:0019897)|membrane (GO:0016020)|vesicle (GO:0031982)	phosphatidylethanolamine binding (GO:0008429)|phosphatidylserine binding (GO:0001786)			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	22	Lung NSC(78;0.0392)|all_lung(78;0.077)					CATGCACCGCGTTTTTGTTCCA	0.569																																						ENST00000539437.1																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	22						c.(541-543)agcfs		milk fat globule-EGF factor 8 protein																																				SO:0001589	frameshift_variant	4240				angiogenesis|cell adhesion|interspecies interaction between organisms|single fertilization			g.chr15:89449106_89449107insT	U58516	CCDS10347.1, CCDS45345.1	15q25	2009-03-25			ENSG00000140545	ENSG00000140545			7036	protein-coding gene	gene with protein product	"sperm surface protein hP47"	602281	"sperm associated antigen 10"	SPAG10		9027496, 19204935	Standard	NM_005928		Approved	SED1, EDIL1, BA46, OAcGD3S, HsT19888, MFG-E8, hP47	uc002bng.4	Q08431	OTTHUMG00000148682	ENST00000566497.1:c.567dupA	15.37:g.89449111_89449111dupT	ENSP00000456281:p.Asn189fs					MFGE8_ENST00000542878.1_Frame_Shift_Ins_p.S145fs|MFGE8_ENST00000268151.7_Frame_Shift_Ins_p.S189fs|MFGE8_ENST00000566497.1_Frame_Shift_Ins_p.S189fs|MFGE8_ENST00000268150.8_Frame_Shift_Ins_p.S189fs|MFGE8_ENST00000559997.1_Intron	p.S181fs			Q08431	MFGM_HUMAN			6	678_679	-	Lung NSC(78;0.0392)|all_lung(78;0.077)		189			F5/8 type C 1.		B2R6M7|Q53FU9|Q7Z3D2|Q9BTL9	Frame_Shift_Ins	INS	ENST00000566497.1	37	c.542_543insA	CCDS10347.1																																																																																				0.569	MFGE8-015	NOVEL	alternative_3_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000432804.1	NM_005928		15	99						15	99	---	---	---	---	T	89449107	-	T	89449106	7	5	7	1	0	1	1	0	0	0	0	0	9520	1136	40	0	612	0	MFGE8	15	89449106	Frame_Shift_Ins	INS	-	TCGA-2A-A8W3-01A-11D-A377-08	61332791	89449106	13082286	37	258											
IL4R	3566	broad.mit.edu	37	chr16	27367221	27367221	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctgttgtgctatgtcagcAtcaccaagtgagtcctgggc	7	11	12	11	0	2	1	2	1	0	0	3	1	3	1	3	1	2	3	3	1	2	2			TCGA-2A-A8W3-01A-11D-A377-08	TCGA-2A-A8W3-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8c4b6f6-86d6-48a2-bbfb-7b8da1493669	a7e479c1-0527-4958-9741-e038dcfc931f	g.chr16:27367221A>C	ENST00000395762.2	+	8	1022	c.763A>C	c.(763-765)Atc>Ctc	p.I255L	IL4R_ENST00000565915.1_3'UTR|IL4R_ENST00000170630.2_Missense_Mutation_p.I255L|IL4R_ENST00000543915.2_Missense_Mutation_p.I255L|IL4R_ENST00000380922.3_Missense_Mutation_p.I240L	NM_000418.3	NP_000409.1	P24394	IL4RA_HUMAN	interleukin 4 receptor	255					defense response to protozoan (GO:0042832)|immune response (GO:0006955)|interleukin-4-mediated signaling pathway (GO:0035771)|intracellular signal transduction (GO:0035556)|negative regulation of T-helper 1 cell differentiation (GO:0045626)|ovulation (GO:0030728)|positive regulation of chemokine secretion (GO:0090197)|positive regulation of macrophage activation (GO:0043032)|positive regulation of T-helper 2 cell differentiation (GO:0045630)|production of molecular mediator involved in inflammatory response (GO:0002532)|regulation of cell proliferation (GO:0042127)|response to estrogen (GO:0043627)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	interleukin-4 receptor activity (GO:0004913)|receptor signaling protein activity (GO:0005057)			breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	33						CTATGTCAGCATCACCAAGTG	0.612																																						ENST00000395762.2																			0				breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	33						c.(763-765)Atc>Ctc		interleukin 4 receptor							114	91	99					16																	27367221		2197	4300	6497	SO:0001583	missense	3566				immune response|production of molecular mediator involved in inflammatory response	integral to plasma membrane	identical protein binding|interleukin-4 receptor activity|receptor signaling protein activity	g.chr16:27367221A>C	X52425	CCDS10629.1, CCDS58441.1	16p12.1-p11.2	2008-05-14			ENSG00000077238	ENSG00000077238		"Interleukins and interleukin receptors", "CD molecules"	6015	protein-coding gene	gene with protein product		147781				1679753	Standard	NM_000418		Approved	CD124	uc010bxy.4	P24394	OTTHUMG00000097015	ENST00000395762.2:c.763A>C	16.37:g.27367221A>C	ENSP00000379111:p.Ile255Leu					IL4R_ENST00000543915.2_Missense_Mutation_p.I255L|IL4R_ENST00000565915.1_3'UTR|IL4R_ENST00000380922.3_Missense_Mutation_p.I240L|IL4R_ENST00000170630.2_Missense_Mutation_p.I255L	p.I255L	NM_000418.3	NP_000409.1	P24394	IL4RA_HUMAN			8	1022	+			255					B4E076|B9EKU8|H3BSY5|Q96P01|Q9H181|Q9H182|Q9H183|Q9H184|Q9H185|Q9H186|Q9H187|Q9H188	Missense_Mutation	SNP	ENST00000395762.2	37	c.763A>C	CCDS10629.1	.	.	.	.	.	.	.	.	.	.	A	7.505	0.653421	0.14580	.	.	ENSG00000077238	ENST00000395762;ENST00000543915;ENST00000380922;ENST00000170630	T;T;T;T	0.09723	2.95;2.95;2.98;2.95	4.31	-2.58	0.06228	.	1.876460	0.02091	N	0.053155	T	0.08133	0.0203	L	0.41415	1.275	0.09310	N	1	P;B;B	0.43431	0.807;0.307;0.307	B;B;B	0.39217	0.294;0.051;0.051	T	0.32402	-0.9908	10	0.10902	T	0.67	-9.8063	4.9135	0.13835	0.3163:0.0:0.501:0.1827	.	240;255;255	B4E076;B9EGC0;P24394	.;.;IL4RA_HUMAN	L	255;255;240;255	ENSP00000379111:I255L;ENSP00000441667:I255L;ENSP00000370309:I240L;ENSP00000170630:I255L	ENSP00000170630:I255L	I	+	1	0	IL4R	27274722	0.000000	0.05858	0.063000	0.19743	0.062000	0.15995	-0.943000	0.03917	-0.373000	0.07979	-0.563000	0.04171	ATC		0.612	IL4R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214104.4			6	42	0	0	0	1	0	6	42					C	27367221	A	C	27367221	3	2	7	1	0	0	0	0	1	0	0	0	7698	217	8	5	803	5	IL4R	16	27367221	Missense_Mutation	SNP	A	TCGA-2A-A8W3-01A-11D-A377-08		27367221	62987532	38	259											
CDH16	1014	broad.mit.edu	37	chr16	66947138	66947138	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgtgcagctccagaggggccGcatagtcctcgccatgggaa	8	6	14	13	3	0	1	0	0	0	1	3	2	2	2	4	3	2	3	4	3	2	1	rs377681344	byFrequency	TCGA-2A-A8W3-01A-11D-A377-08	TCGA-2A-A8W3-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8c4b6f6-86d6-48a2-bbfb-7b8da1493669	a7e479c1-0527-4958-9741-e038dcfc931f	g.chr16:66947138G>A	ENST00000299752.4	-	9	1143	c.950C>T	c.(949-951)gCg>gTg	p.A317V	CDH16_ENST00000568632.1_Missense_Mutation_p.A220V|CDH16_ENST00000565796.1_Missense_Mutation_p.A317V|CDH16_ENST00000570262.1_Missense_Mutation_p.A237V|CDH16_ENST00000394055.3_Missense_Mutation_p.A317V	NM_001204744.1|NM_001204745.1|NM_004062.3	NP_001191673.1|NP_001191674.1|NP_004053.1	O75309	CAD16_HUMAN	cadherin 16, KSP-cadherin	317	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)	basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)	p.A317V(1)		endometrium(1)|kidney(3)|large_intestine(10)|lung(15)|ovary(2)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0877)|Epithelial(162;0.203)		CAGAGGGGCCGCATAGTCCTC	0.622													G|||	2	0.000399361	0	0	5008	,	,		17670	0.002		0	False		,,,				2504	0					ENST00000299752.4																			1	Substitution - Missense(1)	p.A317V(1)	prostate(1)	endometrium(1)|kidney(3)|large_intestine(10)|lung(15)|ovary(2)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						c.(949-951)gCg>gTg		cadherin 16, KSP-cadherin		G	VAL/ALA,VAL/ALA,VAL/ALA,VAL/ALA	1,4399	2.1+/-5.4	0,1,2199	104	98	100		950,950,659,950	3.2	0	16		100	0,8600		0,0,4300	no	missense,missense,missense,missense	CDH16	NM_001204744.1,NM_001204745.1,NM_001204746.1,NM_004062.3	64,64,64,64	0,1,6499	AA,AG,GG		0.0,0.0227,0.0077	benign,benign,benign,benign	317/808,317/791,220/733,317/830	66947138	1,12999	2200	4300	6500	SO:0001583	missense	1014				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr16:66947138G>A	AF016272	CCDS10823.1, CCDS56002.1, CCDS58471.1, CCDS58472.1	16q22.1	2010-01-26			ENSG00000166589	ENSG00000166589		"Cadherins / Major cadherins"	1755	protein-coding gene	gene with protein product		603118				9721215, 7615566	Standard	NM_004062		Approved		uc002eql.3	O75309	OTTHUMG00000137518	ENST00000299752.4:c.950C>T	16.37:g.66947138G>A	ENSP00000299752:p.Ala317Val					CDH16_ENST00000570262.1_Missense_Mutation_p.A237V|CDH16_ENST00000394055.3_Missense_Mutation_p.A317V|CDH16_ENST00000565796.1_Missense_Mutation_p.A317V|CDH16_ENST00000568632.1_Missense_Mutation_p.A220V	p.A317V	NM_001204744.1|NM_001204745.1|NM_004062.3	NP_001191673.1|NP_001191674.1|NP_004053.1	O75309	CAD16_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0877)|Epithelial(162;0.203)	9	1143	-		Ovarian(137;0.0563)	317			Cadherin 3.		B4DPA8|H3BPD3|Q6UW93	Missense_Mutation	SNP	ENST00000299752.4	37	c.950C>T	CCDS10823.1	.	.	.	.	.	.	.	.	.	.	G	10.12	1.261961	0.23051	2.27E-4	0.0	ENSG00000166589	ENST00000394055;ENST00000299752;ENST00000544875	T;T	0.51817	0.69;0.69	5.29	3.2	0.36748	Cadherin (4);Cadherin-like (1);	0.377447	0.25552	N	0.029881	T	0.54711	0.1875	M	0.76574	2.34	0.09310	N	0.999998	P;P;D	0.54601	0.93;0.929;0.967	B;B;P	0.51999	0.307;0.355;0.687	T	0.50197	-0.8856	10	0.66056	D	0.02	-2.9976	7.8555	0.29480	0.0923:0.1635:0.7442:0.0	.	317;317;317	O75309-2;B2R7S8;O75309	.;.;CAD16_HUMAN	V	317;317;281	ENSP00000377619:A317V;ENSP00000299752:A317V	ENSP00000299752:A317V	A	-	2	0	CDH16	65504639	0.001000	0.12720	0.005000	0.12908	0.002000	0.02628	0.990000	0.29642	1.366000	0.46076	0.655000	0.94253	GCG		0.622	CDH16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268839.2	NM_004062		4	76	0	0	0	1	0	4	76					A	66947138	G	A	66947138	3	1	7	1	0	0	0	0	1	0	0	0	3101	1087	38	1	1579	1	CDH16	16	66947138	Missense_Mutation	SNP	G	TCGA-2A-A8W3-01A-11D-A377-08	39579917	66947138	23407615	39	260											
SLC9A5	6553	broad.mit.edu	37	chr16	67290816	67290816	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcctccctcccgctgtaggcGtagtcctgcagacctgggtg	4	9	13	15	2	0	1	0	0	0	1	3	1	3	1	5	2	1	4	5	2	2	2	rs567278884		TCGA-2A-A8W3-01A-11D-A377-08	TCGA-2A-A8W3-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8c4b6f6-86d6-48a2-bbfb-7b8da1493669	a7e479c1-0527-4958-9741-e038dcfc931f	g.chr16:67290816G>A	ENST00000299798.11	+	7	1200	c.1135G>A	c.(1135-1137)Gta>Ata	p.V379I		NM_004594.2	NP_004585.1	Q14940	SL9A5_HUMAN	solute carrier family 9, subfamily A (NHE5, cation proton antiporter 5), member 5	379					ion transport (GO:0006811)|regulation of pH (GO:0006885)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium:proton antiporter activity (GO:0015385)			breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	27		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)		CGCTGTAGGCGTAGTCCTGCA	0.622													G|||	1	0.000199681	8e-04	0	5008	,	,		20532	0		0	False		,,,				2504	0					ENST00000299798.11																			0				breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	27						c.(1135-1137)Gta>Ata		solute carrier family 9, subfamily A (NHE5, cation proton antiporter 5), member 5							55	60	58					16																	67290816		2089	4215	6304	SO:0001583	missense	6553				regulation of pH	integral to membrane|plasma membrane	sodium:hydrogen antiporter activity	g.chr16:67290816G>A		CCDS42178.1	16q22.1	2013-05-22	2012-03-22		ENSG00000135740	ENSG00000135740		"Solute carriers"	11078	protein-coding gene	gene with protein product		600477	"solute carrier family 9 (sodium/hydrogen exchanger), isoform 5", "solute carrier family 9 (sodium/hydrogen exchanger), member 5"			7759094, 9933642	Standard	NM_004594		Approved	NHE5	uc002esm.3	Q14940	OTTHUMG00000172935	ENST00000299798.11:c.1135G>A	16.37:g.67290816G>A	ENSP00000299798:p.Val379Ile						p.V379I	NM_004594.2	NP_004585.1	Q14940	SL9A5_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)	7	1200	+		Ovarian(137;0.0563)	379					A5PKY7|Q9Y626	Missense_Mutation	SNP	ENST00000299798.11	37	c.1135G>A	CCDS42178.1	.	.	.	.	.	.	.	.	.	.	G	24.1	4.494566	0.85069	.	.	ENSG00000135740	ENST00000299798	T	0.19938	2.11	5.63	5.63	0.86233	Cation/H+ exchanger (1);	0.000000	0.85682	D	0.000000	T	0.42698	0.1214	L	0.48362	1.52	0.80722	D	1	D	0.76494	0.999	D	0.79108	0.992	T	0.14448	-1.0472	10	0.87932	D	0	.	19.032	0.92961	0.0:0.0:1.0:0.0	.	379	Q14940	SL9A5_HUMAN	I	379	ENSP00000299798:V379I	ENSP00000299798:V379I	V	+	1	0	SLC9A5	65848317	1.000000	0.71417	1.000000	0.80357	0.814000	0.46013	9.813000	0.99286	2.814000	0.96858	0.655000	0.94253	GTA		0.622	SLC9A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421386.1			16	46	0	0	0	1	0	16	46					A	67290816	G	A	67290816	3	1	7	1	0	0	0	0	1	0	0	0	14717	1145	40	1	1161	1	SLC9A5	16	67290816	Missense_Mutation	SNP	G	TCGA-2A-A8W3-01A-11D-A377-08	343678	67290816	23063937	40	261											
SCO1	6341	broad.mit.edu	37	chr17	10600820	10600820	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgggtactaggaccagcatcGccatgagcctcggagaccgg	9	5	14	13	4	0	2	0	1	0	1	2	4	0	3	4	4	3	2	4	4	2	2	rs147487151	byFrequency	TCGA-2A-A8W3-01A-11D-A377-08	TCGA-2A-A8W3-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8c4b6f6-86d6-48a2-bbfb-7b8da1493669	a7e479c1-0527-4958-9741-e038dcfc931f	g.chr17:10600820G>A	ENST00000255390.5	-	1	65	c.5C>T	c.(4-6)gCg>gTg	p.A2V	SCO1_ENST00000582053.1_Intron|ADPRM_ENST00000379774.4_5'Flank|SCO1_ENST00000577427.1_Missense_Mutation_p.A2V	NM_004589.2	NP_004580.1	O75880	SCO1_HUMAN	SCO1 cytochrome c oxidase assembly protein	2					cellular copper ion homeostasis (GO:0006878)|copper ion transport (GO:0006825)|generation of precursor metabolites and energy (GO:0006091)|respiratory chain complex IV assembly (GO:0008535)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|myofibril (GO:0030016)	copper ion binding (GO:0005507)			cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(2)|urinary_tract(1)	10						GACCAGCATCGCCATGAGCCT	0.647																																					Melanoma(128;591 1731 19711 31891 44645)	ENST00000255390.5																			0				cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(2)|urinary_tract(1)	10						c.(4-6)gCg>gTg		SCO1 cytochrome c oxidase assembly protein							25	23	24					17																	10600820		2202	4300	6502	SO:0001583	missense	6341				cellular copper ion homeostasis|copper ion transport|generation of precursor metabolites and energy|respiratory chain complex IV assembly	mitochondrial inner membrane	copper ion binding	g.chr17:10600820G>A	AF026852	CCDS11158.1	17p13.1	2012-10-15	2012-10-15		ENSG00000133028	ENSG00000133028		"Mitochondrial respiratory chain complex assembly factors"	10603	protein-coding gene	gene with protein product		603644	"SCO (cytochrome oxidase deficient, yeast) homolog 1", "SCO cytochrome oxidase deficient homolog 1 (yeast)"	SCOD1		9878253	Standard	NM_004589		Approved		uc002gmr.4	O75880	OTTHUMG00000130364	ENST00000255390.5:c.5C>T	17.37:g.10600820G>A	ENSP00000255390:p.Ala2Val					SCO1_ENST00000577427.1_Missense_Mutation_p.A2V	p.A2V	NM_004589.2	NP_004580.1	O75880	SCO1_HUMAN			1	65	-			2					B2RDM0	Missense_Mutation	SNP	ENST00000255390.5	37	c.5C>T	CCDS11158.1	.	.	.	.	.	.	.	.	.	.	G	26.6	4.749696	0.89753	.	.	ENSG00000133028	ENST00000255390;ENST00000396047	D	0.85411	-1.98	4.36	4.36	0.52297	.	0.414217	0.23750	N	0.044925	D	0.86125	0.5858	N	0.24115	0.695	0.28917	N	0.892377	D;D	0.89917	1.0;1.0	D;D	0.78314	0.991;0.991	T	0.80756	-0.1240	10	0.87932	D	0	-3.8089	12.7021	0.57038	0.0:0.0:1.0:0.0	.	2;2	A8MY34;O75880	.;SCO1_HUMAN	V	2	ENSP00000255390:A2V	ENSP00000255390:A2V	A	-	2	0	SCO1	10541545	0.990000	0.36364	0.980000	0.43619	0.015000	0.08874	2.486000	0.45259	2.702000	0.92279	0.655000	0.94253	GCG		0.647	SCO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252729.2	NM_004589		4	20	0	0	0	1	0	4	20					A	10600820	G	A	10600820	3	1	7	1	0	0	0	0	1	0	0	0	13931	1087	38	1	924	1	SCO1	17	10600820	Missense_Mutation	SNP	G	TCGA-2A-A8W3-01A-11D-A377-08		10600820	70594390	41	262											
EVPL	2125	broad.mit.edu	37	chr17	74006445	74006445	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	agcctctccaagggccgctgGgtcctcagctgcagcagttg	6	8	13	14	1	2	0	1	0	1	0	4	0	3	0	4	2	4	5	4	2	1	1			TCGA-2A-A8W3-01A-11D-A377-08	TCGA-2A-A8W3-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8c4b6f6-86d6-48a2-bbfb-7b8da1493669	a7e479c1-0527-4958-9741-e038dcfc931f	g.chr17:74006445G>C	ENST00000301607.3	-	22	3094	c.2841C>G	c.(2839-2841)acC>acG	p.T947T	EVPL_ENST00000586740.1_Silent_p.T969T	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN	envoplakin	947	Central fibrous rod domain.				epidermis development (GO:0008544)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)	cell junction (GO:0030054)|cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	protein binding, bridging (GO:0030674)|structural molecule activity (GO:0005198)			breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						AGGGCCGCTGGGTCCTCAGCT	0.667																																						ENST00000301607.3																			0				breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						c.(2839-2841)acC>acG		envoplakin							40	41	41					17																	74006445		2203	4300	6503	SO:0001819	synonymous_variant	2125				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity	g.chr17:74006445G>C	U53786	CCDS11737.1	17q25	2008-07-18				ENSG00000167880			3503	protein-coding gene	gene with protein product		601590				8938451, 10409435	Standard	NM_001988		Approved	EVPK	uc002jqi.2	Q92817		ENST00000301607.3:c.2841C>G	17.37:g.74006445G>C						EVPL_ENST00000586740.1_Silent_p.T969T	p.T947T	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN			22	3094	-			947			Central fibrous rod domain.		A0AUV5	Silent	SNP	ENST00000301607.3	37	c.2841C>G	CCDS11737.1																																																																																				0.667	EVPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449483.1	NM_001988		11	36	0	0	0	1	0	11	36					C	74006445	G	C	74006445	2	2	7	1	0	0	0	0	0	0	0	1	5292	1219	43	5		5	EVPL	17	74006445	Silent	SNP	G	TCGA-2A-A8W3-01A-11D-A377-08	63405625	74006445	7188765	42	263											
ZNF750	79755	broad.mit.edu	37	chr17	80790121	80790121	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttggtttgcttggggtctagTgagttagatttagggcactt	6	17	14	4	0	1	2	0	1	1	1	1	2	1	2	0	4	1	4	0	4	3	8			TCGA-2A-A8W3-01A-11D-A377-08	TCGA-2A-A8W3-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8c4b6f6-86d6-48a2-bbfb-7b8da1493669	a7e479c1-0527-4958-9741-e038dcfc931f	g.chr17:80790121T>G	ENST00000269394.3	-	2	1043	c.210A>C	c.(208-210)tcA>tcC	p.S70S	TBCD_ENST00000539345.2_Intron|TBCD_ENST00000355528.4_Intron|TBCD_ENST00000397466.2_Intron|ZNF750_ENST00000572562.1_Intron	NM_024702.2	NP_078978.2	Q32MQ0	ZN750_HUMAN	zinc finger protein 750	70					cell differentiation (GO:0030154)|epidermis development (GO:0008544)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(3)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	31	Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0514)|all_epithelial(8;0.0748)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.149)			TGGGGTCTAGTGAGTTAGATT	0.473																																						ENST00000269394.3																			0				NS(3)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	31						c.(208-210)tcA>tcC		zinc finger protein 750							141	117	125					17																	80790121		2203	4300	6503	SO:0001819	synonymous_variant	79755					intracellular	zinc ion binding	g.chr17:80790121T>G	AK023903	CCDS11819.1	17q25.3	2008-05-02				ENSG00000141579			25843	protein-coding gene	gene with protein product		610226				16751772	Standard	NM_024702		Approved	FLJ13841, Zfp750	uc002kga.3	Q32MQ0		ENST00000269394.3:c.210A>C	17.37:g.80790121T>G						TBCD_ENST00000355528.4_Intron|ZNF750_ENST00000572562.1_Intron|TBCD_ENST00000539345.2_Intron|TBCD_ENST00000397466.2_Intron	p.S70S	NM_024702.2	NP_078978.2	Q32MQ0	ZN750_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.149)		2	1043	-	Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0514)|all_epithelial(8;0.0748)	70					Q9H899	Silent	SNP	ENST00000269394.3	37	c.210A>C	CCDS11819.1																																																																																				0.473	ZNF750-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439074.2	NM_024702		21	86	0	0	0	1	0	21	86					G	80790121	T	G	80790121	2	3	7	1	0	0	0	0	0	0	0	1	18129	1683	59	5		5	ZNF750	17	80790121	Silent	SNP	T	TCGA-2A-A8W3-01A-11D-A377-08	6783676	80790121	405089	43	264											
EPB41L3	23136	broad.mit.edu	37	chr18	5398057	5398057	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aagtagaagtaacccctcctAtgaattctgttggttttcgc	10	14	8	9	1	1	2	0	1	1	1	3	2	2	2	3	1	1	4	3	1	6	7			TCGA-2A-A8W3-01A-11D-A377-08	TCGA-2A-A8W3-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8c4b6f6-86d6-48a2-bbfb-7b8da1493669	a7e479c1-0527-4958-9741-e038dcfc931f	g.chr18:5398057A>G	ENST00000341928.2	-	17	2775	c.2435T>C	c.(2434-2436)aTa>aCa	p.I812T	EPB41L3_ENST00000544123.1_Missense_Mutation_p.I643T|EPB41L3_ENST00000400111.3_Intron|EPB41L3_ENST00000542146.1_Missense_Mutation_p.I117T|EPB41L3_ENST00000427684.2_Missense_Mutation_p.I109T|EPB41L3_ENST00000542652.2_Intron|EPB41L3_ENST00000540638.2_Intron|EPB41L3_ENST00000342933.3_Missense_Mutation_p.I812T	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	812	Spectrin--actin-binding. {ECO:0000255}.				apoptotic process (GO:0006915)|cortical actin cytoskeleton organization (GO:0030866)|cortical cytoskeleton organization (GO:0030865)|cytoskeletal anchoring at plasma membrane (GO:0007016)|myelin maintenance (GO:0043217)|neuron projection morphogenesis (GO:0048812)|paranodal junction assembly (GO:0030913)|protein localization to juxtaparanode region of axon (GO:0071205)|protein localization to paranode region of axon (GO:0002175)|protein localization to plasma membrane (GO:0072659)|regulation of cell shape (GO:0008360)	axolemma (GO:0030673)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)|juxtaparanode region of axon (GO:0044224)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						AACCCCTCCTATGAATTCTGT	0.443																																						ENST00000341928.2																			0				breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						c.(2434-2436)aTa>aCa		erythrocyte membrane protein band 4.1-like 3							210	212	211					18																	5398057		2203	4300	6503	SO:0001583	missense	23136				cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity	g.chr18:5398057A>G	AB023204	CCDS11838.1, CCDS62381.1, CCDS62382.1	18p11.32	2006-06-28			ENSG00000082397	ENSG00000082397			3380	protein-coding gene	gene with protein product		605331				9828140, 9892180	Standard	NM_012307		Approved	DAL1, KIAA0987, 4.1B	uc002kmt.1	Q9Y2J2	OTTHUMG00000131562	ENST00000341928.2:c.2435T>C	18.37:g.5398057A>G	ENSP00000343158:p.Ile812Thr					EPB41L3_ENST00000544123.1_Missense_Mutation_p.I643T|EPB41L3_ENST00000540638.2_Intron|EPB41L3_ENST00000400111.3_Intron|EPB41L3_ENST00000427684.2_Missense_Mutation_p.I109T|EPB41L3_ENST00000542652.2_Intron|EPB41L3_ENST00000342933.3_Missense_Mutation_p.I812T|EPB41L3_ENST00000542146.1_Missense_Mutation_p.I117T	p.I812T	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN			17	2775	-			812			Spectrin--actin-binding (Potential).		B7Z4I5|F5GX05|O95713|Q9BRP5	Missense_Mutation	SNP	ENST00000341928.2	37	c.2435T>C	CCDS11838.1	.	.	.	.	.	.	.	.	.	.	A	10.77	1.445045	0.25987	.	.	ENSG00000082397	ENST00000341928;ENST00000544123;ENST00000427684;ENST00000542146;ENST00000342933	D;D;T;T;D	0.83075	-1.5;-1.68;-0.5;-0.53;-1.5	6.17	6.17	0.99709	.	0.311579	0.37348	N	0.002130	D	0.85362	0.5679	M	0.68317	2.08	0.52099	D	0.999945	P;B;P;B;P	0.50272	0.933;0.418;0.853;0.075;0.565	P;B;P;B;B	0.50231	0.544;0.202;0.635;0.055;0.114	T	0.82418	-0.0467	10	0.13853	T	0.58	.	16.8222	0.85835	1.0:0.0:0.0:0.0	.	643;109;117;204;812	F5GX05;E7EUF8;F5H7W5;B7Z8M8;Q9Y2J2	.;.;.;.;E41L3_HUMAN	T	812;643;109;117;812	ENSP00000343158:I812T;ENSP00000441174:I643T;ENSP00000392195:I109T;ENSP00000442233:I117T;ENSP00000341138:I812T	ENSP00000343158:I812T	I	-	2	0	EPB41L3	5388057	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.683000	0.74533	2.371000	0.80710	0.533000	0.62120	ATA		0.443	EPB41L3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254424.1	NM_012307		38	163	0	0	0	1	0	38	163					G	5398057	A	G	5398057	3	3	7	1	0	0	0	0	1	0	0	0	5154	449	16	4	852	4	EPB41L3	18	5398057	Missense_Mutation	SNP	A	TCGA-2A-A8W3-01A-11D-A377-08		5398057	72679191	44	265											
C20orf106	200232	broad.mit.edu	37	chr20	55100069	55100069	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ggcttctttttgttgttgtgCcgtttgtgatactgcagtgt	3	20	12	6	1	1	1	0	1	1	0	1	1	1	1	1	1	3	5	1	1	1	7			TCGA-2A-A8W3-01A-11D-A377-08	TCGA-2A-A8W3-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8c4b6f6-86d6-48a2-bbfb-7b8da1493669	a7e479c1-0527-4958-9741-e038dcfc931f	g.chr20:55100069C>T	ENST00000371328.3	+	1	528	c.205C>T	c.(205-207)Ccg>Tcg	p.P69S	GCNT7_ENST00000243913.4_Intron|FAM209A_ENST00000481560.1_3'UTR	NM_001012971.3	NP_001012989.2	Q5JX71	F209A_HUMAN	family with sequence similarity 209, member A	69						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)											TGTTGTTGTGCCGTTTGTGAT	0.463																																						ENST00000371328.3																			0											c.(205-207)Ccg>Tcg		family with sequence similarity 209, member A							156	142	147					20																	55100069		2203	4300	6503	SO:0001583	missense	200232							g.chr20:55100069C>T	AL109806	CCDS33493.1	20q13.31	2011-11-24	2011-11-24	2011-11-24	ENSG00000124103	ENSG00000124103			16100	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 106"	C20orf106			Standard	NM_001012971		Approved	dJ1153D9.3		Q5JX71	OTTHUMG00000032799	ENST00000371328.3:c.205C>T	20.37:g.55100069C>T	ENSP00000360379:p.Pro69Ser					GCNT7_ENST00000243913.4_Intron|FAM209A_ENST00000481560.1_3'UTR	p.P69S	NM_001012971.3	NP_001012989.2					1	528	+								Q05C43	Missense_Mutation	SNP	ENST00000371328.3	37	c.205C>T	CCDS33493.1	.	.	.	.	.	.	.	.	.	.	C	11.48	1.652024	0.29336	.	.	ENSG00000124103	ENST00000371328	T	0.07688	3.17	5.51	2.34	0.29019	.	0.446120	0.16586	N	0.207989	T	0.05640	0.0148	N	0.22421	0.69	0.09310	N	1	B	0.18863	0.031	B	0.22601	0.04	T	0.36016	-0.9765	10	0.72032	D	0.01	-4.7215	4.1778	0.10360	0.1866:0.6066:0.0:0.2068	.	69	Q5JX71	CT106_HUMAN	S	69	ENSP00000360379:P69S	ENSP00000360379:P69S	P	+	1	0	C20orf106	54533476	0.179000	0.23135	0.059000	0.19551	0.005000	0.04900	0.138000	0.16016	0.206000	0.20587	-0.373000	0.07131	CCG		0.463	FAM209A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079815.2			15	68	0	0	0	1	0	15	68					T	55100069	C	T	55100069	3	4	7	1	0	0	0	0	1	0	0	0	2076	739	26	3	207	3	C20orf106	20	55100069	Missense_Mutation	SNP	C	TCGA-2A-A8W3-01A-11D-A377-08		55100069	7925451	45	266											
PHACTR3	116154	broad.mit.edu	37	chr20	58348360	58348360	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccacactcttccaagcctccAgcatgaagagtgccgaccct	10	7	7	17	1	1	2	0	1	1	1	3	3	3	2	6	0	3	1	6	0	2	1			TCGA-2A-A8W3-01A-11D-A377-08	TCGA-2A-A8W3-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8c4b6f6-86d6-48a2-bbfb-7b8da1493669	a7e479c1-0527-4958-9741-e038dcfc931f	g.chr20:58348360A>T	ENST00000371015.1	+	6	1245	c.778A>T	c.(778-780)Agc>Tgc	p.S260C	PHACTR3_ENST00000355648.4_Missense_Mutation_p.S219C|PHACTR3_ENST00000395639.4_Missense_Mutation_p.S149C|PHACTR3_ENST00000359926.3_Missense_Mutation_p.S257C|PHACTR3_ENST00000395636.2_Missense_Mutation_p.S219C|PHACTR3_ENST00000541461.1_Missense_Mutation_p.S219C|PHACTR3_ENST00000361300.4_Missense_Mutation_p.S149C	NM_001281507.1|NM_080672.3	NP_001268436.1|NP_542403.1	Q96KR7	PHAR3_HUMAN	phosphatase and actin regulator 3	260						nucleus (GO:0005634)	protein phosphatase inhibitor activity (GO:0004864)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|liver(2)|lung(32)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	59	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;2.76e-09)			CCAAGCCTCCAGCATGAAGAG	0.632																																						ENST00000371015.1																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|liver(2)|lung(32)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	59						c.(778-780)Agc>Tgc		phosphatase and actin regulator 3							86	88	87					20																	58348360		2203	4300	6503	SO:0001583	missense	116154					nuclear matrix	actin binding|protein phosphatase inhibitor activity	g.chr20:58348360A>T	AJ311122	CCDS13480.1, CCDS13481.1, CCDS42895.1, CCDS56202.1	20q13.32-q13.33	2014-06-13	2004-05-20	2004-05-20	ENSG00000087495	ENSG00000087495		"Phosphatase and actin regulators"	15833	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 123"	608725	"chromosome 20 open reading frame 101"	C20orf101		15107502	Standard	NM_001199505		Approved	PPP1R123	uc002yau.3	Q96KR7	OTTHUMG00000032869	ENST00000371015.1:c.778A>T	20.37:g.58348360A>T	ENSP00000360054:p.Ser260Cys					PHACTR3_ENST00000359926.3_Missense_Mutation_p.S257C|PHACTR3_ENST00000355648.4_Missense_Mutation_p.S219C|PHACTR3_ENST00000361300.4_Missense_Mutation_p.S149C|PHACTR3_ENST00000541461.1_Missense_Mutation_p.S219C|PHACTR3_ENST00000395636.2_Missense_Mutation_p.S219C|PHACTR3_ENST00000395639.4_Missense_Mutation_p.S149C	p.S260C	NM_080672.3	NP_542403.1	Q96KR7	PHAR3_HUMAN	BRCA - Breast invasive adenocarcinoma(7;2.76e-09)		6	1245	+	all_lung(29;0.00344)		260					B1AKX0|B1AN68|B1AN69|B2RB46|Q32P33|Q707P6|Q9H4T4	Missense_Mutation	SNP	ENST00000371015.1	37	c.778A>T	CCDS13480.1	.	.	.	.	.	.	.	.	.	.	A	2.469	-0.322298	0.05350	.	.	ENSG00000087495	ENST00000359926;ENST00000371015;ENST00000395639;ENST00000541461;ENST00000355648;ENST00000395636;ENST00000361300	T;T;T;T;T;T;T	0.32023	1.79;1.81;1.47;1.81;1.81;1.81;1.47	5.13	-1.83	0.07833	.	0.604159	0.18799	N	0.130823	T	0.16514	0.0397	N	0.22421	0.69	0.09310	N	1	B;P;B	0.37997	0.001;0.614;0.001	B;B;B	0.32624	0.002;0.149;0.002	T	0.06734	-1.0810	10	0.54805	T	0.06	-8.4802	10.5006	0.44804	0.4508:0.0:0.5492:0.0	.	149;260;257	Q96KR7-3;Q96KR7;B1AKX0	.;PHAR3_HUMAN;.	C	257;260;149;219;219;219;149	ENSP00000353002:S257C;ENSP00000360054:S260C;ENSP00000379001:S149C;ENSP00000442483:S219C;ENSP00000347866:S219C;ENSP00000378998:S219C;ENSP00000354555:S149C	ENSP00000347866:S219C	S	+	1	0	PHACTR3	57781755	0.023000	0.18921	0.000000	0.03702	0.000000	0.00434	0.258000	0.18387	-0.852000	0.04141	-2.200000	0.00306	AGC		0.632	PHACTR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079923.3	NM_080672		22	57	0	0	0	1	0	22	57					T	58348360	A	T	58348360	3	4	7	1	0	0	0	0	1	0	0	0	11811	188	7	5	800	5	PHACTR3	20	58348360	Missense_Mutation	SNP	A	TCGA-2A-A8W3-01A-11D-A377-08	3248291	58348360	4677160	46	267											
SCN3A	6328	broad.mit.edu	37	chr2	165952053	165952053	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggttgaagttatctatgaTgacaccaatgaatagattca	14	13	8	6	0	2	5	1	4	1	1	2	5	2	5	1	1	0	2	1	1	6	5			TCGA-2A-AAYF-01A-11D-A41K-08	TCGA-2A-AAYF-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d4f8ba6-7ff3-40ec-af29-7b3450f813a2	b4ade944-957e-4ec1-a880-e330b8de3980	g.chr2:165952053T>C	ENST00000360093.3	-	25	4890	c.4399A>G	c.(4399-4401)Atc>Gtc	p.I1467V	SCN3A_ENST00000283254.7_Missense_Mutation_p.I1467V|SCN3A_ENST00000465043.1_5'Flank|SCN3A_ENST00000540861.1_5'Flank|SCN3A_ENST00000409101.3_Missense_Mutation_p.I1418V	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	1467					membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lacosamide(DB06218)|Valproic Acid(DB00313)|Zonisamide(DB00909)	TTATCTATGATGACACCAATG	0.333																																						ENST00000360093.3																			0				NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120						c.(4399-4401)Atc>Gtc		sodium channel, voltage-gated, type III, alpha subunit	Lamotrigine(DB00555)						95	93	94					2																	165952053		2203	4300	6503	SO:0001583	missense	6328					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:165952053T>C	AF035685	CCDS33312.1, CCDS46440.1	2q24	2012-02-26	2007-01-23		ENSG00000153253	ENSG00000153253		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10590	protein-coding gene	gene with protein product		182391	"sodium channel, voltage-gated, type III, alpha polypeptide"			9589372, 16382098	Standard	NM_001081676		Approved	Nav1.3	uc002ucx.3	Q9NY46	OTTHUMG00000044171	ENST00000360093.3:c.4399A>G	2.37:g.165952053T>C	ENSP00000353206:p.Ile1467Val					SCN3A_ENST00000409101.3_Missense_Mutation_p.I1418V|SCN3A_ENST00000283254.7_Missense_Mutation_p.I1467V	p.I1467V	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN			25	4890	-			1467					Q16142|Q53SX0|Q9BZB3|Q9C006|Q9NYK2|Q9P2J1|Q9UPD1|Q9Y6P4	Missense_Mutation	SNP	ENST00000360093.3	37	c.4399A>G		.	.	.	.	.	.	.	.	.	.	T	17.53	3.413519	0.62511	.	.	ENSG00000153253	ENST00000360093;ENST00000283254;ENST00000409101	D;D;D	0.98876	-5.2;-5.2;-5.2	5.25	5.25	0.73442	.	0.070211	0.53938	D	0.000052	D	0.98934	0.9638	M	0.73430	2.235	0.80722	D	1	P;P;B	0.46327	0.876;0.876;0.02	D;D;B	0.64595	0.927;0.927;0.206	D	0.99690	1.1001	10	0.66056	D	0.02	.	15.619	0.76790	0.0:0.0:0.0:1.0	.	1418;1418;1467	Q9NY46-2;Q9NY46-4;Q9NY46-3	.;.;.	V	1467;1467;1418	ENSP00000353206:I1467V;ENSP00000283254:I1467V;ENSP00000386726:I1418V	ENSP00000283254:I1467V	I	-	1	0	SCN3A	165660299	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.825000	0.86693	2.333000	0.79357	0.482000	0.46254	ATC		0.333	SCN3A-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_006922		29	46	0	0	0	1	0	29	46					C	165952053	T	C	165952053	3	2	8	1	0	0	0	0	1	0	0	0	13918	1464	51	4	1619	4	SCN3A	2	165952053	Missense_Mutation	SNP	T	TCGA-2A-AAYF-01A-11D-A41K-08		165952053	77247320	1	268											
TTN	7273	broad.mit.edu	37	chr2	179580332	179580332	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcatttccagcacagccacCgagtcaacgaatgacattct	12	9	7	13	2	2	1	1	1	1	0	3	3	3	1	3	0	4	2	3	0	2	2	rs369099681		TCGA-2A-AAYF-01A-11D-A41K-08	TCGA-2A-AAYF-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d4f8ba6-7ff3-40ec-af29-7b3450f813a2	b4ade944-957e-4ec1-a880-e330b8de3980	g.chr2:179580332C>T	ENST00000591111.1	-	87	25082	c.24858G>A	c.(24856-24858)tcG>tcA	p.S8286S	TTN_ENST00000589042.1_Silent_p.S8603S|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000342992.6_Silent_p.S7359S|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000592630.1_RNA			Q8WZ42	TITIN_HUMAN	titin	12464	Ig-like 65.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GCACAGCCACCGAGTCAACGA	0.468													C|||	1	0.000199681	8e-04	0	5008	,	,		19816	0		0	False		,,,				2504	0					ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(25807-25809)tcG>tcA		titin		C	,,,	1,4123		0,1,2061	88	90	89		,22077,,	-10.7	0	2		89	0,8428		0,0,4214	no	intron,coding-synonymous,intron,intron	TTN	NM_003319.4,NM_133378.4,NM_133432.3,NM_133437.3	,,,	0,1,6275	TT,TC,CC		0.0,0.0242,0.0080	,,,	,7359/33424,,	179580332	1,12551	2062	4214	6276	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179580332C>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.24858G>A	2.37:g.179580332C>T						TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Silent_p.S7359S|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Silent_p.S8286S|TTN-AS1_ENST00000585451.1_RNA	p.S8603S	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		89	26033	-			8286			Ig-like 68.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	ENST00000591111.1	37	c.25809G>A																																																																																					0.468	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		17	28	0	0	0	1	0	17	28					T	179580332	C	T	179580332	2	4	8	1	0	0	0	0	0	0	0	1	16732	639	23	2		2	TTN	2	179580332	Silent	SNP	C	TCGA-2A-AAYF-01A-11D-A41K-08	13628279	179580332	63619041	2	269											
CELSR3	1951	broad.mit.edu	37	chr3	48679866	48679866	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gaggctgtggtcagtgtggtCagcggctgagccatgtcgaa	7	9	17	8	2	2	1	2	1	0	0	3	3	2	1	1	4	2	2	1	4	1	0			TCGA-2A-AAYF-01A-11D-A41K-08	TCGA-2A-AAYF-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d4f8ba6-7ff3-40ec-af29-7b3450f813a2	b4ade944-957e-4ec1-a880-e330b8de3980	g.chr3:48679866C>T	ENST00000164024.4	-	31	8870	c.8590G>A	c.(8590-8592)Gac>Aac	p.D2864N	MIR4793_ENST00000577502.1_RNA|CELSR3_ENST00000544264.1_Missense_Mutation_p.D2869N	NM_001407.2	NP_001398.2	Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	2864					axonal fasciculation (GO:0007413)|cilium assembly (GO:0042384)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of protein localization (GO:0032880)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		TCAGTGTGGTCAGCGGCTGAG	0.622																																						ENST00000544264.1																			0				NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83						c.(8605-8607)Gac>Aac		cadherin, EGF LAG seven-pass G-type receptor 3							69	59	62					3																	48679866		2202	4299	6501	SO:0001583	missense	1951				homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding	g.chr3:48679866C>T	AF231023	CCDS2775.1	3p21.31	2014-08-08	2013-02-18		ENSG00000008300	ENSG00000008300		"Cadherins / Major cadherins", "-", "GPCR / Class B : Orphans"	3230	protein-coding gene	gene with protein product	"flamingo homolog 1 (Drosophila)"	604264	"cadherin EGF LAG seven-pass G-type receptor 3, flamingo (Drosophila) homolog"	EGFL1		9693030	Standard	NM_001407		Approved	MEGF2, HFMI1, FMI1, CDHF11	uc003cuf.1	Q9NYQ7	OTTHUMG00000133544	ENST00000164024.4:c.8590G>A	3.37:g.48679866C>T	ENSP00000164024:p.Asp2864Asn					CELSR3_ENST00000164024.4_Missense_Mutation_p.D2864N	p.D2869N			Q9NYQ7	CELR3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)	32	8885	-			2864					O75092	Missense_Mutation	SNP	ENST00000164024.4	37	c.8605G>A	CCDS2775.1	.	.	.	.	.	.	.	.	.	.	C	14.96	2.690931	0.48097	.	.	ENSG00000008300	ENST00000164024;ENST00000544264	T;T	0.70516	-0.49;-0.48	5.43	5.43	0.79202	.	.	.	.	.	T	0.64994	0.2649	L	0.44542	1.39	0.28031	N	0.934134	B;B;B	0.31318	0.003;0.001;0.319	B;B;B	0.30572	0.004;0.001;0.117	T	0.54906	-0.8223	9	0.13108	T	0.6	.	19.5952	0.95535	0.0:1.0:0.0:0.0	.	2869;2864;2962	Q9NYQ7-2;Q9NYQ7;Q5Y190	.;CELR3_HUMAN;.	N	2864;2869	ENSP00000164024:D2864N;ENSP00000445694:D2869N	ENSP00000164024:D2864N	D	-	1	0	CELSR3	48654870	0.998000	0.40836	1.000000	0.80357	0.995000	0.86356	2.536000	0.45693	2.711000	0.92665	0.511000	0.50034	GAC		0.622	CELSR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257523.1	NM_001407		7	19	0	0	0	1	0	7	19					T	48679866	C	T	48679866	3	4	8	1	0	0	0	0	1	0	0	0	3223	826	29	3	1368	3	CELSR3	3	48679866	Missense_Mutation	SNP	C	TCGA-2A-AAYF-01A-11D-A41K-08		48679866	149342564	3	270											
LIMCH1	22998	broad.mit.edu	37	chr4	41621368	41621368	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagacggcctacgtccccgcGcctctgagaaagaagaaagc	12	4	11	14	4	1	4	0	1	1	4	2	5	2	4	4	1	2	0	4	1	4	1	rs139697872		TCGA-2A-AAYF-01A-11D-A41K-08	TCGA-2A-AAYF-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d4f8ba6-7ff3-40ec-af29-7b3450f813a2	b4ade944-957e-4ec1-a880-e330b8de3980	g.chr4:41621368G>A	ENST00000313860.7	+	8	900	c.846G>A	c.(844-846)gcG>gcA	p.A282A	LIMCH1_ENST00000509638.1_Silent_p.A123A|LIMCH1_ENST00000512632.1_Silent_p.A282A|LIMCH1_ENST00000513024.1_Silent_p.A123A|LIMCH1_ENST00000512946.1_Silent_p.A282A|LIMCH1_ENST00000396595.3_Silent_p.A128A|LIMCH1_ENST00000508501.1_Silent_p.A282A|LIMCH1_ENST00000509454.1_Silent_p.A130A|LIMCH1_ENST00000511496.1_Silent_p.A123A|LIMCH1_ENST00000509277.1_Silent_p.A128A|LIMCH1_ENST00000381753.4_Silent_p.A128A|LIMCH1_ENST00000503057.1_Silent_p.A123A|LIMCH1_ENST00000514096.1_Silent_p.A135A|LIMCH1_ENST00000512820.1_Silent_p.A282A	NM_014988.2	NP_055803.2	Q9UPQ0	LIMC1_HUMAN	LIM and calponin homology domains 1	282					actomyosin structure organization (GO:0031032)		zinc ion binding (GO:0008270)			central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(5)	41						ACGTCCCCGCGCCTCTGAGAA	0.577																																						ENST00000313860.7																			0				central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(5)	41						c.(844-846)gcG>gcA		LIM and calponin homology domains 1		G	,,,,	2,4404	4.2+/-10.8	0,2,2201	71	74	73		846,846,384,384,846	-6.7	0.4	4	dbSNP_134	73	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	LIMCH1	NM_001112717.1,NM_001112718.1,NM_001112719.1,NM_001112720.1,NM_014988.2	,,,,	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	,,,,	282/1058,282/1057,128/903,128/891,282/1084	41621368	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	22998				actomyosin structure organization		actin binding|zinc ion binding	g.chr4:41621368G>A	AB029025	CCDS33977.1, CCDS47047.1, CCDS54763.1, CCDS54764.1, CCDS54765.1, CCDS75119.1, CCDS75121.1	4p13	2007-06-14		2008-01-09	ENSG00000064042	ENSG00000064042			29191	protein-coding gene	gene with protein product						10470851	Standard	XM_005248057		Approved	DKFZP686A01247, LIMCH1A, LMO7B	uc003gvz.4	Q9UPQ0	OTTHUMG00000160575	ENST00000313860.7:c.846G>A	4.37:g.41621368G>A						LIMCH1_ENST00000513024.1_Silent_p.A123A|LIMCH1_ENST00000509638.1_Silent_p.A123A|LIMCH1_ENST00000508501.1_Silent_p.A282A|LIMCH1_ENST00000503057.1_Silent_p.A123A|LIMCH1_ENST00000509277.1_Silent_p.A128A|LIMCH1_ENST00000509454.1_Silent_p.A130A|LIMCH1_ENST00000512820.1_Silent_p.A282A|LIMCH1_ENST00000514096.1_Silent_p.A135A|LIMCH1_ENST00000512632.1_Silent_p.A282A|LIMCH1_ENST00000381753.4_Silent_p.A128A|LIMCH1_ENST00000511496.1_Silent_p.A123A|LIMCH1_ENST00000512946.1_Silent_p.A282A|LIMCH1_ENST00000396595.3_Silent_p.A128A	p.A282A	NM_014988.2	NP_055803.2	Q9UPQ0	LIMC1_HUMAN			8	900	+			282					A8MXC3|E9PHM7|Q503B5|Q5CZB1|Q5CZB6|Q5H9S8|Q68E07|Q6PJ44|Q7Z3G5|Q8N3S9|Q8N6M2	Silent	SNP	ENST00000313860.7	37	c.846G>A	CCDS33977.1	.	.	.	.	.	.	.	.	.	.	G	5.786	0.329387	0.10956	4.54E-4	0.0	ENSG00000064042	ENST00000508466	.	.	.	5.74	-6.73	0.01749	.	.	.	.	.	T	0.33962	0.0881	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.40961	-0.9535	4	.	.	.	-7.8941	0.4675	0.00526	0.274:0.1757:0.2956:0.2546	.	.	.	.	H	117	.	.	R	+	2	0	LIMCH1	41316125	0.024000	0.19004	0.433000	0.26760	0.350000	0.29205	-0.920000	0.04013	-1.151000	0.02836	-0.244000	0.11960	CGC		0.577	LIMCH1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000361249.2	NM_014988		21	43	0	0	0	1	0	21	43					A	41621368	G	A	41621368	2	1	8	1	0	0	0	0	0	0	0	1	8797	1074	38	1		1	LIMCH1	4	41621368	Silent	SNP	G	TCGA-2A-AAYF-01A-11D-A41K-08		41621368	149532908	4	271											
TMEM174	134288	broad.mit.edu	37	chr5	72469163	72469163	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	accgctgacatccaggtgtcCgatgatgacaaggcgggggc	9	6	15	11	3	0	3	0	3	0	0	2	4	2	3	3	4	0	1	3	4	1	0	rs140016650		TCGA-2A-AAYF-01A-11D-A41K-08	TCGA-2A-AAYF-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d4f8ba6-7ff3-40ec-af29-7b3450f813a2	b4ade944-957e-4ec1-a880-e330b8de3980	g.chr5:72469163C>T	ENST00000296776.5	+	1	142	c.93C>T	c.(91-93)tcC>tcT	p.S31S	TMEM174_ENST00000511737.1_3'UTR	NM_153217.2	NP_694949.1	Q8WUU8	TM174_HUMAN	transmembrane protein 174	31						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	7		Lung NSC(167;0.0378)|Ovarian(174;0.0908)|Prostate(461;0.165)		OV - Ovarian serous cystadenocarcinoma(47;1.46e-54)		TCCAGGTGTCCGATGATGACA	0.567																																						ENST00000296776.5																			0				endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	7						c.(91-93)tcC>tcT		transmembrane protein 174		C		0,4406		0,0,2203	164	155	158		93	-11	0.2	5	dbSNP_134	158	1,8599		0,1,4299	no	coding-synonymous	TMEM174	NM_153217.2		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		31/244	72469163	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	134288					integral to membrane		g.chr5:72469163C>T	BC019346	CCDS4018.1	5q13.2	2008-02-05			ENSG00000164325	ENSG00000164325			28187	protein-coding gene	gene with protein product		614909				12477932	Standard	NM_153217		Approved	MGC13034, FLJ31268	uc010izc.3	Q8WUU8	OTTHUMG00000131268	ENST00000296776.5:c.93C>T	5.37:g.72469163C>T						TMEM174_ENST00000511737.1_3'UTR	p.S31S	NM_153217.2	NP_694949.1	Q8WUU8	TM174_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;1.46e-54)	1	142	+		Lung NSC(167;0.0378)|Ovarian(174;0.0908)|Prostate(461;0.165)	31					B2RDA0|Q96N81	Silent	SNP	ENST00000296776.5	37	c.93C>T	CCDS4018.1																																																																																				0.567	TMEM174-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254036.1	NM_153217		63	93	0	0	0	1	0	63	93					T	72469163	C	T	72469163	2	4	8	1	0	0	0	0	0	0	0	1	16087	639	23	2		2	TMEM174	5	72469163	Silent	SNP	C	TCGA-2A-AAYF-01A-11D-A41K-08		72469163	108446097	5	272											
UIMC1	51720	broad.mit.edu	37	chr5	176395642	176395642	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttcctggaaatccttggtttTtgagtgccagtcagatgccc	7	14	10	10	0	1	2	1	1	0	1	3	3	3	3	4	2	2	1	4	2	1	4			TCGA-2A-AAYF-01A-11D-A41K-08	TCGA-2A-AAYF-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d4f8ba6-7ff3-40ec-af29-7b3450f813a2	b4ade944-957e-4ec1-a880-e330b8de3980	g.chr5:176395642T>C	ENST00000377227.4	-	6	1246	c.1114A>G	c.(1114-1116)Aaa>Gaa	p.K372E	UIMC1_ENST00000377219.2_Missense_Mutation_p.K372E|UIMC1_ENST00000511320.1_Missense_Mutation_p.K372E|UIMC1_ENST00000503273.1_5'UTR|UIMC1_ENST00000506128.1_Intron			Q96RL1	UIMC1_HUMAN	ubiquitin interaction motif containing 1	372	AIR.				double-strand break repair (GO:0006302)|G2 DNA damage checkpoint (GO:0031572)|histone H2A K63-linked deubiquitination (GO:0070537)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of DNA repair (GO:0045739)|response to ionizing radiation (GO:0010212)|transcription, DNA-templated (GO:0006351)	BRCA1-A complex (GO:0070531)|nucleus (GO:0005634)	histone binding (GO:0042393)|K63-linked polyubiquitin binding (GO:0070530)			NS(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(5)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	21	all_cancers(89;7.96e-05)|Renal(175;0.000269)|Lung NSC(126;0.00476)|all_lung(126;0.00806)	Medulloblastoma(196;0.0145)|all_neural(177;0.0325)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TCCTTGGTTTTTGAGTGCCAG	0.443																																						ENST00000377219.2																			0				NS(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(5)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	21						c.(1114-1116)Aaa>Gaa		ubiquitin interaction motif containing 1							147	142	144					5																	176395642		2203	4300	6503	SO:0001583	missense	51720				double-strand break repair|G2/M transition DNA damage checkpoint|histone H2A K63-linked deubiquitination|negative regulation of transcription, DNA-dependent|positive regulation of DNA repair|response to ionizing radiation|transcription, DNA-dependent	BRCA1-A complex	histone binding|K63-linked polyubiquitin binding	g.chr5:176395642T>C	AF349313	CCDS4408.1	5q35.2	2008-02-05			ENSG00000087206	ENSG00000087206			30298	protein-coding gene	gene with protein product	"receptor associated protein 80"	609433				12080054	Standard	NM_001199297		Approved	RAP80	uc021yin.1	Q96RL1	OTTHUMG00000130852	ENST00000377227.4:c.1114A>G	5.37:g.176395642T>C	ENSP00000366434:p.Lys372Glu					UIMC1_ENST00000503273.1_5'UTR|UIMC1_ENST00000377227.4_Missense_Mutation_p.K372E|UIMC1_ENST00000506128.1_Intron|UIMC1_ENST00000511320.1_Missense_Mutation_p.K372E	p.K372E	NM_016290.4	NP_057374.3	Q96RL1	UIMC1_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		6	1280	-	all_cancers(89;7.96e-05)|Renal(175;0.000269)|Lung NSC(126;0.00476)|all_lung(126;0.00806)	Medulloblastoma(196;0.0145)|all_neural(177;0.0325)	372			AIR.		A8MSA1|B3KMZ1|B4E3N2|Q5XKQ1|Q7Z3W7|Q8N5B9|Q9BZR1|Q9BZR5|Q9UHX7	Missense_Mutation	SNP	ENST00000377227.4	37	c.1114A>G	CCDS4408.1	.	.	.	.	.	.	.	.	.	.	T	13.54	2.267613	0.40095	.	.	ENSG00000087206	ENST00000377227;ENST00000377219;ENST00000511320;ENST00000377220	T;T;T	0.30448	1.53;1.53;1.53	5.74	-1.01	0.10169	.	0.389995	0.28098	N	0.016618	T	0.09069	0.0224	N	0.08118	0	0.09310	N	0.999999	B;B	0.12630	0.006;0.004	B;B	0.14578	0.011;0.007	T	0.23833	-1.0177	10	0.06236	T	0.91	.	1.8066	0.03082	0.1239:0.2815:0.1282:0.4664	.	372;294	Q96RL1;Q96RL1-3	UIMC1_HUMAN;.	E	372;372;372;294	ENSP00000366434:K372E;ENSP00000366425:K372E;ENSP00000421926:K372E	ENSP00000366425:K372E	K	-	1	0	UIMC1	176328248	0.891000	0.30450	0.982000	0.44146	0.990000	0.78478	-0.200000	0.09478	-0.085000	0.12573	0.454000	0.30748	AAA		0.443	UIMC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253422.1	NM_016290		54	85	0	0	0	1	0	54	85					C	176395642	T	C	176395642	3	2	8	1	0	0	0	0	1	0	0	0	16968	1850	64	4	1085	4	UIMC1	5	176395642	Missense_Mutation	SNP	T	TCGA-2A-AAYF-01A-11D-A41K-08	103926479	176395642	4519618	6	273											
HIST1H4B	8366	broad.mit.edu	37	chr6	26027174	26027174	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aaactgacgaaaagattaacCgccgaagccgtacagagtgc	16	5	10	10	4	0	3	0	1	0	2	0	5	0	3	3	0	5	1	3	0	6	2			TCGA-2A-AAYF-01A-11D-A41K-08	TCGA-2A-AAYF-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d4f8ba6-7ff3-40ec-af29-7b3450f813a2	b4ade944-957e-4ec1-a880-e330b8de3980	g.chr6:26027174C>A	ENST00000377364.3	-	1	306	c.307G>T	c.(307-309)Ggt>Tgt	p.G103C		NM_003544.2	NP_003535.1	P62805	H4_HUMAN	histone cluster 1, H4b	103					CENP-A containing nucleosome assembly (GO:0034080)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|histone H4-K20 demethylation (GO:0035574)|mitotic cell cycle (GO:0000278)|negative regulation of megakaryocyte differentiation (GO:0045653)|nucleosome assembly (GO:0006334)|telomere maintenance (GO:0000723)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|histone demethylase activity (H4-K20 specific) (GO:0035575)|poly(A) RNA binding (GO:0044822)			large_intestine(4)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)	13						AAAGATTAACCGCCGAAGCCG	0.537											OREG0017238	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000377364.3																			0				large_intestine(4)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)	13						c.(307-309)Ggt>Tgt		histone cluster 1, H4b							65	61	62					6																	26027174		2203	4300	6503	SO:0001583	missense	8366				CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding	g.chr6:26027174C>A	X67081	CCDS4572.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000124529	ENSG00000278705		"Histones / Replication-dependent"	4789	protein-coding gene	gene with protein product		602829	"H4 histone family, member I", "histone 1, H4b"	H4FI		9119399, 12408966	Standard	NM_003544		Approved	H4/I	uc003nfr.3	P62805	OTTHUMG00000014417	ENST00000377364.3:c.307G>T	6.37:g.26027174C>A	ENSP00000366581:p.Gly103Cys		OREG0017238	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	783		p.G103C	NM_003544.2	NP_003535.1	P62805	H4_HUMAN			1	306	-			103					A2VCL0|P02304|P02305|Q6DRA9|Q6FGB8|Q6NWP7	Missense_Mutation	SNP	ENST00000377364.3	37	c.307G>T	CCDS4572.1	.	.	.	.	.	.	.	.	.	.	c	17.11	3.304739	0.60305	.	.	ENSG00000124529	ENST00000377364	.	.	.	4.65	4.65	0.58169	.	0.000000	0.53938	U	0.000044	T	0.72011	0.3408	.	.	.	0.46167	D	0.998907	.	.	.	.	.	.	T	0.76318	-0.3003	6	0.87932	D	0	.	17.4106	0.87484	0.0:1.0:0.0:0.0	.	.	.	.	C	103	.	ENSP00000366581:G103C	G	-	1	0	HIST1H4B	26135153	1.000000	0.71417	0.762000	0.31397	0.006000	0.05464	7.393000	0.79851	2.506000	0.84524	0.563000	0.77884	GGT		0.537	HIST1H4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040079.2	NM_003544		21	35	1	0	4.96729e-08	1	5.37004e-08	21	35					A	26027174	C	A	26027174	3	1	8	1	0	0	0	0	1	0	0	0	7166	652	23	5	8	5	HIST1H4B	6	26027174	Missense_Mutation	SNP	C	TCGA-2A-AAYF-01A-11D-A41K-08		26027174	145087893	7	274											
WASF1	8936	broad.mit.edu	37	chr6	110426721	110426721	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagcttctgccattctcgcCgcctgtcatgaggtgctctt	4	13	9	15	2	4	1	1	1	3	0	5	1	4	1	4	1	3	2	4	1	0	3			TCGA-2A-AAYF-01A-11D-A41K-08	TCGA-2A-AAYF-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d4f8ba6-7ff3-40ec-af29-7b3450f813a2	b4ade944-957e-4ec1-a880-e330b8de3980	g.chr6:110426721C>T	ENST00000392589.1	-	8	1438	c.602G>A	c.(601-603)cGg>cAg	p.R201Q	WASF1_ENST00000392588.1_Missense_Mutation_p.R201Q|WASF1_ENST00000392586.1_Missense_Mutation_p.R201Q|WASF1_ENST00000392587.2_Missense_Mutation_p.R201Q|WASF1_ENST00000359451.2_Missense_Mutation_p.R201Q	NM_003931.2	NP_003922.1	Q92558	WASF1_HUMAN	WAS protein family, member 1	201					actin filament polymerization (GO:0030041)|cellular component movement (GO:0006928)|lamellipodium morphogenesis (GO:0072673)|positive regulation of Arp2/3 complex-mediated actin nucleation (GO:2000601)|protein complex assembly (GO:0006461)|Rac protein signal transduction (GO:0016601)	actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|cytoskeleton (GO:0005856)|lamellipodium (GO:0030027)|mitochondrial outer membrane (GO:0005741)|SCAR complex (GO:0031209)|synapse (GO:0045202)	protein complex binding (GO:0032403)			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	16		all_cancers(87;1.18e-05)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00159)|Colorectal(196;0.0488)		OV - Ovarian serous cystadenocarcinoma(136;0.0364)|Epithelial(106;0.051)|all cancers(137;0.0687)		CCATTCTCGCCGCCTGTCATG	0.448																																						ENST00000392589.1																			0				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	16						c.(601-603)cGg>cAg		WAS protein family, member 1							95	89	91					6																	110426721		2203	4300	6503	SO:0001583	missense	8936				actin filament polymerization|cellular component movement	actin cytoskeleton	actin binding	g.chr6:110426721C>T	D87459	CCDS5080.1	6q21	2010-08-20			ENSG00000112290	ENSG00000112290		"A-kinase anchor proteins"	12732	protein-coding gene	gene with protein product		605035				9843499, 9889097	Standard	XM_005267204		Approved	WAVE1, SCAR1, KIAA0269, WAVE	uc003pty.1	Q92558	OTTHUMG00000015357	ENST00000392589.1:c.602G>A	6.37:g.110426721C>T	ENSP00000376368:p.Arg201Gln					WASF1_ENST00000392587.2_Missense_Mutation_p.R201Q|WASF1_ENST00000359451.2_Missense_Mutation_p.R201Q|WASF1_ENST00000392586.1_Missense_Mutation_p.R201Q|WASF1_ENST00000392588.1_Missense_Mutation_p.R201Q	p.R201Q	NM_003931.2	NP_003922.1	Q92558	WASF1_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.0364)|Epithelial(106;0.051)|all cancers(137;0.0687)	8	1438	-		all_cancers(87;1.18e-05)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00159)|Colorectal(196;0.0488)	201					E1P5F2|Q5SZK7	Missense_Mutation	SNP	ENST00000392589.1	37	c.602G>A	CCDS5080.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.968063	0.74131	.	.	ENSG00000112290	ENST00000392586;ENST00000392587;ENST00000392589;ENST00000392588;ENST00000359451	T;T;T;T;T	0.48522	0.81;0.81;0.81;0.81;0.81	5.54	5.54	0.83059	.	0.177091	0.48767	D	0.000161	T	0.25382	0.0617	L	0.32530	0.975	0.39854	D	0.973287	P	0.38745	0.645	B	0.28011	0.085	T	0.21621	-1.0240	10	0.59425	D	0.04	.	19.543	0.95281	0.0:1.0:0.0:0.0	.	201	Q92558	WASF1_HUMAN	Q	201	ENSP00000376365:R201Q;ENSP00000376366:R201Q;ENSP00000376368:R201Q;ENSP00000376367:R201Q;ENSP00000352425:R201Q	ENSP00000352425:R201Q	R	-	2	0	WASF1	110533414	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.230000	0.58632	2.607000	0.88179	0.586000	0.80456	CGG		0.448	WASF1-203	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041784.3	NM_003931		25	51	0	0	0	1	0	25	51					T	110426721	C	T	110426721	3	4	8	1	0	0	0	0	1	0	0	0	17249	652	23	2	1093	2	WASF1	6	110426721	Missense_Mutation	SNP	C	TCGA-2A-AAYF-01A-11D-A41K-08	84399547	110426721	60688346	8	275											
AEBP1	165	broad.mit.edu	37	chr7	44146386	44146386	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaggccaccaagaagcccccGtcagggaagaggccccccat	12	2	11	16	1	1	2	1	0	0	2	1	3	1	3	7	3	1	0	7	3	4	0	rs144974496		TCGA-2A-AAYF-01A-11D-A41K-08	TCGA-2A-AAYF-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d4f8ba6-7ff3-40ec-af29-7b3450f813a2	b4ade944-957e-4ec1-a880-e330b8de3980	g.chr7:44146386G>A	ENST00000223357.3	+	2	800	c.495G>A	c.(493-495)ccG>ccA	p.P165P		NM_001129.3	NP_001120.3	Q8IUX7	AEBP1_HUMAN	AE binding protein 1	165	Pro-rich.				cell adhesion (GO:0007155)|muscle organ development (GO:0007517)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	carboxypeptidase activity (GO:0004180)|metallocarboxypeptidase activity (GO:0004181)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(13)|upper_aerodigestive_tract(2)	33						AGAAGCCCCCGTCAGGGAAGA	0.652																																						ENST00000223357.3																			0				NS(1)|breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(13)|upper_aerodigestive_tract(2)	33						c.(493-495)ccG>ccA		AE binding protein 1		G		0,4388		0,0,2194	49	54	52		495	-1.8	0	7	dbSNP_134	52	1,8591		0,1,4295	no	coding-synonymous	AEBP1	NM_001129.3		0,1,6489	AA,AG,GG		0.0116,0.0,0.0077		165/1159	44146386	1,12979	2194	4296	6490	SO:0001819	synonymous_variant	165				cell adhesion|muscle organ development|proteolysis|skeletal system development	cytoplasm|extracellular space|nucleus	DNA binding|metallocarboxypeptidase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr7:44146386G>A	D86479	CCDS5476.1	7p	2008-07-18	2001-11-28		ENSG00000106624	ENSG00000106624			303	protein-coding gene	gene with protein product	"aortic carboxypeptidase-like protein", "adipocyte enhancer binding protein 1"	602981	"AE-binding protein 1"			8920928	Standard	NM_001129		Approved	ACLP	uc003tkb.4	Q8IUX7	OTTHUMG00000023362	ENST00000223357.3:c.495G>A	7.37:g.44146386G>A							p.P165P	NM_001129.3	NP_001120.3	Q8IUX7	AEBP1_HUMAN			2	800	+			165			Pro-rich.		Q14113|Q59ER7|Q6ZSC7|Q7KZ79	Silent	SNP	ENST00000223357.3	37	c.495G>A	CCDS5476.1	.	.	.	.	.	.	.	.	.	.	G	5.468	0.271352	0.10349	0.0	1.16E-4	ENSG00000106624	ENST00000455443	.	.	.	4.33	-1.83	0.07833	.	.	.	.	.	T	0.18882	0.0453	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.25152	-1.0140	4	.	.	.	2.0383	1.4654	0.02405	0.2831:0.1443:0.4262:0.1463	.	.	.	.	I	123	.	.	V	+	1	0	AEBP1	44112911	0.000000	0.05858	0.000000	0.03702	0.178000	0.23041	-0.552000	0.06020	-0.223000	0.09943	0.462000	0.41574	GTC		0.652	AEBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250993.2	NM_001129		8	7	0	0	0	1	0	8	7					A	44146386	G	A	44146386	2	1	8	1	0	0	0	0	0	0	0	1	349	1132	40	1		1	AEBP1	7	44146386	Silent	SNP	G	TCGA-2A-AAYF-01A-11D-A41K-08		44146386	114992277	9	276											
GRM8	2918	broad.mit.edu	37	chr7	126882812	126882812	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgctgcagcacctatgacGccagaaatcttgtcgggctt	8	11	10	12	2	1	2	0	1	1	1	2	2	1	2	2	1	3	4	2	1	2	4			TCGA-2A-AAYF-01A-11D-A41K-08	TCGA-2A-AAYF-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d4f8ba6-7ff3-40ec-af29-7b3450f813a2	b4ade944-957e-4ec1-a880-e330b8de3980	g.chr7:126882812G>A	ENST00000339582.2	-	2	1255	c.447C>T	c.(445-447)ggC>ggT	p.G149G	GRM8_ENST00000444921.2_Silent_p.G149G|GRM8_ENST00000358373.3_Silent_p.G149G|GRM8_ENST00000405249.1_Silent_p.G149G			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	149					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|negative regulation of cAMP biosynthetic process (GO:0030818)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of smell (GO:0007608)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)				CACCTATGACGCCAGAAATCT	0.438										HNSCC(24;0.065)																												ENST00000339582.2																			0				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125						c.(445-447)ggC>ggT		glutamate receptor, metabotropic 8	L-Glutamic Acid(DB00142)						160	133	142					7																	126882812		2203	4300	6503	SO:0001819	synonymous_variant	0				negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane		g.chr7:126882812G>A		CCDS5794.1, CCDS47696.1	7q31.3-q32.1	2012-08-29			ENSG00000179603	ENSG00000179603		"GPCR / Class C : Glutamate receptors, metabotropic", "Glutamate receptors"	4600	protein-coding gene	gene with protein product		601116				8824806	Standard	NM_000845		Approved	GLUR8, GPRC1H, mGlu8, MGLUR8	uc003vlr.2	O00222	OTTHUMG00000022888	ENST00000339582.2:c.447C>T	7.37:g.126882812G>A		HNSCC(24;0.065)				GRM8_ENST00000405249.1_Silent_p.G149G|GRM8_ENST00000358373.3_Silent_p.G149G|GRM8_ENST00000444921.2_Silent_p.G149G	p.G149G			O00222	GRM8_HUMAN			2	1255	-		Prostate(267;0.186)	149					A4D0Y3|B0FZ74|B0M0L0|O15493|O95945|O95946|Q3MIV9|Q52M02|Q6J165	Silent	SNP	ENST00000339582.2	37	c.447C>T	CCDS5794.1																																																																																				0.438	GRM8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059209.4			32	56	0	0	0	1	0	32	56					A	126882812	G	A	126882812	2	1	8	1	0	0	0	0	0	0	0	1	6803	1074	38	1		1	GRM8	7	126882812	Silent	SNP	G	TCGA-2A-AAYF-01A-11D-A41K-08	82736426	126882812	32255851	10	277											
JHDM1D	80853	broad.mit.edu	37	chr7	139790982	139790982	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgccattcctttttttggaCgtttacctataaaacaccaa	11	16	4	10	1	0	0	0	0	0	0	1	1	1	1	4	1	3	1	4	1	5	9			TCGA-2A-AAYF-01A-11D-A41K-08	TCGA-2A-AAYF-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d4f8ba6-7ff3-40ec-af29-7b3450f813a2	b4ade944-957e-4ec1-a880-e330b8de3980	g.chr7:139790982C>T	ENST00000397560.2	-	20	2835	c.2738G>A	c.(2737-2739)cGt>cAt	p.R913H		NM_030647.1	NP_085150.1	Q6ZMT4	KDM7A_HUMAN		913					histone H3-K27 demethylation (GO:0071557)|histone H3-K36 demethylation (GO:0070544)|histone H3-K9 demethylation (GO:0033169)|histone H4-K20 demethylation (GO:0035574)|midbrain development (GO:0030901)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|nucleus (GO:0005634)	histone demethylase activity (H3-K27 specific) (GO:0071558)|histone demethylase activity (H3-K36 specific) (GO:0051864)|histone demethylase activity (H3-K9 specific) (GO:0032454)|histone demethylase activity (H4-K20 specific) (GO:0035575)|iron ion binding (GO:0005506)|methylated histone binding (GO:0035064)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|zinc ion binding (GO:0008270)	p.R913H(1)		central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1)	22	Melanoma(164;0.0142)					TTTTTTTGGACGTTTACCTAT	0.423																																						ENST00000397560.2																			1	Substitution - Missense(1)	p.R913H(1)	central_nervous_system(1)	central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1)	22						c.(2737-2739)cGt>cAt									130	125	127					7																	139790982		1906	4121	6027	SO:0001583	missense	0				midbrain development|transcription, DNA-dependent	nucleolus	histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding	g.chr7:139790982C>T																												ENST00000397560.2:c.2738G>A	7.37:g.139790982C>T	ENSP00000380692:p.Arg913His						p.R913H	NM_030647.1	NP_085150.1	Q6ZMT4	KDM7_HUMAN			20	2835	-	Melanoma(164;0.0142)		913					A4D1S9|C9JJH9|C9JQU2|Q6MZL8|Q9C0E5	Missense_Mutation	SNP	ENST00000397560.2	37	c.2738G>A	CCDS43658.1	.	.	.	.	.	.	.	.	.	.	C	18.69	3.677085	0.68042	.	.	ENSG00000006459	ENST00000397560	T	0.27890	1.64	5.66	4.78	0.61160	.	1.949490	0.02485	N	0.088909	T	0.62344	0.2420	M	0.70275	2.135	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.08617	-1.0713	10	0.87932	D	0	-0.2121	14.6992	0.69145	0.0:0.93:0.0:0.07	.	913	Q6ZMT4	KDM7_HUMAN	H	913	ENSP00000380692:R913H	ENSP00000380692:R913H	R	-	2	0	JHDM1D	139437451	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	6.306000	0.72810	1.390000	0.46547	0.591000	0.81541	CGT		0.423	JHDM1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348460.1			18	25	0	0	0	1	0	18	25					T	139790982	C	T	139790982	3	4	8	1	0	0	0	0	1	0	0	0	7948	536	19	1	91	1	JHDM1D	7	139790982	Missense_Mutation	SNP	C	TCGA-2A-AAYF-01A-11D-A41K-08	12908170	139790982	19347681	11	278											
NSMAF	8439	broad.mit.edu	37	chr8	59508192	59508192	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggccagtgttttgctttcttCggtcaggtcttcaaaagact	7	15	10	9	1	4	1	2	0	2	1	5	1	4	1	1	3	1	2	1	3	2	5			TCGA-2A-AAYF-01A-11D-A41K-08	TCGA-2A-AAYF-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d4f8ba6-7ff3-40ec-af29-7b3450f813a2	b4ade944-957e-4ec1-a880-e330b8de3980	g.chr8:59508192C>T	ENST00000038176.3	-	22	2031	c.1819G>A	c.(1819-1821)Gaa>Aaa	p.E607K	NSMAF_ENST00000427130.2_Missense_Mutation_p.E638K	NM_003580.3	NP_003571.2	Q92636	FAN_HUMAN	neutral sphingomyelinase (N-SMase) activation associated factor	607					ceramide metabolic process (GO:0006672)|intracellular signal transduction (GO:0035556)|positive regulation of apoptotic process (GO:0043065)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	receptor signaling protein activity (GO:0005057)|sphingomyelin phosphodiesterase activator activity (GO:0016230)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	38		all_lung(136;0.174)|Lung NSC(129;0.2)				TTGCTTTCTTCGGTCAGGTCT	0.388																																						ENST00000038176.3																			0				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	38						c.(1819-1821)Gaa>Aaa		neutral sphingomyelinase (N-SMase) activation associated factor							174	159	164					8																	59508192		2203	4300	6503	SO:0001583	missense	8439				ceramide metabolic process	cytoplasm|soluble fraction	protein binding|receptor signaling protein activity	g.chr8:59508192C>T	X96586	CCDS6173.1, CCDS47864.1	8q12-q13	2013-01-10			ENSG00000035681	ENSG00000035681		"WD repeat domain containing"	8017	protein-coding gene	gene with protein product		603043				8808629, 10640829	Standard	NM_003580		Approved	FAN	uc011lee.2	Q92636	OTTHUMG00000164352	ENST00000038176.3:c.1819G>A	8.37:g.59508192C>T	ENSP00000038176:p.Glu607Lys					NSMAF_ENST00000427130.2_Missense_Mutation_p.E638K	p.E607K	NM_003580.3	NP_003571.2	Q92636	FAN_HUMAN			22	2031	-		all_lung(136;0.174)|Lung NSC(129;0.2)	607					B4DFB0|E9PCH0|Q8IW26	Missense_Mutation	SNP	ENST00000038176.3	37	c.1819G>A	CCDS6173.1	.	.	.	.	.	.	.	.	.	.	C	31	5.078496	0.94000	.	.	ENSG00000035681	ENST00000038176;ENST00000427130	T;T	0.54279	0.59;0.58	5.95	5.95	0.96441	WD40 repeat-like-containing domain (1);	0.046390	0.85682	D	0.000000	T	0.72819	0.3508	M	0.65975	2.015	0.58432	D	0.999997	D;D	0.89917	1.0;0.994	D;P	0.83275	0.996;0.492	T	0.69320	-0.5176	9	.	.	.	.	20.3921	0.98947	0.0:1.0:0.0:0.0	.	638;607	Q92636-2;Q92636	.;FAN_HUMAN	K	607;638	ENSP00000038176:E607K;ENSP00000411012:E638K	.	E	-	1	0	NSMAF	59670746	1.000000	0.71417	0.967000	0.41034	0.913000	0.54294	7.340000	0.79292	2.822000	0.97130	0.650000	0.86243	GAA		0.388	NSMAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378384.1	NM_003580		21	50	0	0	0	1	0	21	50					T	59508192	C	T	59508192	3	4	8	1	0	0	0	0	1	0	0	0	10674	893	31	2	974	2	NSMAF	8	59508192	Missense_Mutation	SNP	C	TCGA-2A-AAYF-01A-11D-A41K-08		59508192	86855830	12	279											
C8orf45	157777	broad.mit.edu	37	chr8	67786786	67786786	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gttttattgctgttaagactCtctcattaattggacaattg	10	18	7	6	0	2	1	1	0	1	1	3	2	2	2	0	1	1	3	0	1	4	7			TCGA-2A-AAYF-01A-11D-A41K-08	TCGA-2A-AAYF-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d4f8ba6-7ff3-40ec-af29-7b3450f813a2	b4ade944-957e-4ec1-a880-e330b8de3980	g.chr8:67786786C>G	ENST00000422365.2	+	4	421	c.250C>G	c.(250-252)Ctc>Gtc	p.L84V	MCMDC2_ENST00000492775.1_Missense_Mutation_p.L84V|MCMDC2_ENST00000313616.5_Missense_Mutation_p.L84V|MCMDC2_ENST00000541540.1_Missense_Mutation_p.L21V|MCMDC2_ENST00000396592.3_Missense_Mutation_p.L84V|MCMDC2_ENST00000469823.1_3'UTR	NM_173518.4	NP_775789.3	Q4G0Z9	MCMD2_HUMAN	minichromosome maintenance domain containing 2	84					DNA replication (GO:0006260)		ATP binding (GO:0005524)|DNA binding (GO:0003677)			endometrium(2)|kidney(2)|lung(5)	9						TGTTAAGACTCTCTCATTAAT	0.294																																						ENST00000422365.2																			0				endometrium(2)|kidney(2)|lung(5)	9						c.(250-252)Ctc>Gtc		minichromosome maintenance domain containing 2							81	76	77					8																	67786786		2203	4299	6502	SO:0001583	missense	157777				DNA replication		ATP binding|DNA binding	g.chr8:67786786C>G	BC034576	CCDS6197.2, CCDS47868.1, CCDS47869.1	8q13.1	2012-04-13	2012-04-13	2012-04-13	ENSG00000178460	ENSG00000178460			26368	protein-coding gene	gene with protein product			"chromosome 8 open reading frame 45"	C8orf45			Standard	NM_173518		Approved	FLJ25692	uc003xwz.4	Q4G0Z9	OTTHUMG00000157068	ENST00000422365.2:c.250C>G	8.37:g.67786786C>G	ENSP00000413632:p.Leu84Val					MCMDC2_ENST00000541540.1_Missense_Mutation_p.L21V|MCMDC2_ENST00000492775.1_Missense_Mutation_p.L84V|MCMDC2_ENST00000396592.3_Missense_Mutation_p.L84V|MCMDC2_ENST00000313616.5_Missense_Mutation_p.L84V|MCMDC2_ENST00000469823.1_3'UTR	p.L84V	NM_173518.4	NP_775789.3	Q4G0Z9	CH045_HUMAN			4	421	+			84					B4DYZ3|B4DZM4|B4E293|Q6P533|Q7Z3P4	Missense_Mutation	SNP	ENST00000422365.2	37	c.250C>G	CCDS6197.2	.	.	.	.	.	.	.	.	.	.	C	19.93	3.918560	0.73098	.	.	ENSG00000178460	ENST00000396592;ENST00000422365;ENST00000492775;ENST00000313616;ENST00000541540	T;T;T;T;T	0.32988	3.6;3.6;3.6;3.6;1.43	4.87	4.87	0.63330	.	0.000000	0.85682	D	0.000000	T	0.50377	0.1612	M	0.66939	2.045	0.51482	D	0.999922	D;D;D;D	0.89917	1.0;0.999;0.999;1.0	D;D;D;D	0.83275	0.996;0.991;0.991;0.996	T	0.40040	-0.9584	10	0.28530	T	0.3	-5.4278	12.3172	0.54964	0.0:0.9102:0.0:0.0898	.	21;84;84;84	Q4G0Z9-4;Q4G0Z9;B4DXX4;G3XAN3	.;CH045_HUMAN;.;.	V	84;84;84;84;21	ENSP00000379837:L84V;ENSP00000413632:L84V;ENSP00000428037:L84V;ENSP00000317234:L84V;ENSP00000445629:L21V	ENSP00000317234:L84V	L	+	1	0	C8orf45	67949340	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.452000	0.44961	2.423000	0.82170	0.650000	0.86243	CTC		0.294	MCMDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347350.1	NM_173518		4	36	0	0	0	1	0	4	36					G	67786786	C	G	67786786	3	3	8	1	0	0	0	0	1	0	0	0	2430	913	32	5	260	5	C8orf45	8	67786786	Missense_Mutation	SNP	C	TCGA-2A-AAYF-01A-11D-A41K-08	8278594	67786786	78577236	13	280											
ZFHX4	79776	broad.mit.edu	37	chr8	77767702	77767702	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	caaaaactctggatactctgCcaaaacctgcaaccacacct	15	7	4	15	0	2	0	0	0	2	0	2	1	2	1	4	1	6	1	4	1	6	1			TCGA-2A-AAYF-01A-11D-A41K-08	TCGA-2A-AAYF-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d4f8ba6-7ff3-40ec-af29-7b3450f813a2	b4ade944-957e-4ec1-a880-e330b8de3980	g.chr8:77767702C>T	ENST00000521891.2	+	10	8993	c.8545C>T	c.(8545-8547)Cca>Tca	p.P2849S	ZFHX4_ENST00000050961.6_Missense_Mutation_p.P2804S|ZFHX4_ENST00000518282.1_Missense_Mutation_p.P2823S|ZFHX4_ENST00000455469.2_Missense_Mutation_p.P2804S	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	2804					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			GGATACTCTGCCAAAACCTGC	0.488										HNSCC(33;0.089)																												ENST00000521891.2																			0				NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432						c.(8545-8547)Cca>Tca		zinc finger homeobox 4							70	72	72					8																	77767702		1941	4141	6082	SO:0001583	missense	79776					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:77767702C>T		CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"Homeoboxes / ZF class"	30939	protein-coding gene	gene with protein product		606940	"zinc finger homeodomain 4"			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.8545C>T	8.37:g.77767702C>T	ENSP00000430497:p.Pro2849Ser	HNSCC(33;0.089)				ZFHX4_ENST00000050961.6_Missense_Mutation_p.P2804S|ZFHX4_ENST00000455469.2_Missense_Mutation_p.P2804S|ZFHX4_ENST00000518282.1_Missense_Mutation_p.P2823S	p.P2849S	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.0895)		10	8993	+			2804					G3V138|Q18PS0|Q6ZN20	Missense_Mutation	SNP	ENST00000521891.2	37	c.8545C>T	CCDS47878.2	.	.	.	.	.	.	.	.	.	.	C	2.569	-0.299972	0.05532	.	.	ENSG00000091656	ENST00000521891;ENST00000399468;ENST00000455469;ENST00000050961;ENST00000518282	T;T;T;T	0.41065	1.01;1.05;1.02;1.01	5.25	5.25	0.73442	.	0.745176	0.11366	U	0.571359	T	0.29652	0.0740	N	0.19112	0.55	0.27443	N	0.953663	B;B;B	0.06786	0.0;0.0;0.001	B;B;B	0.12156	0.002;0.004;0.007	T	0.06463	-1.0825	10	0.09590	T	0.72	.	15.4471	0.75238	0.139:0.861:0.0:0.0	.	2804;2804;2849	Q86UP3;Q86UP3-4;G3V138	ZFHX4_HUMAN;.;.	S	2849;2833;2804;2804;2823	ENSP00000430497:P2849S;ENSP00000399605:P2804S;ENSP00000050961:P2804S;ENSP00000430848:P2823S	ENSP00000050961:P2804S	P	+	1	0	ZFHX4	77930257	0.983000	0.35010	0.766000	0.31476	0.022000	0.10575	1.005000	0.29834	2.733000	0.93635	0.561000	0.74099	CCA		0.488	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	NM_024721		13	21	0	0	0	1	0	13	21					T	77767702	C	T	77767702	3	4	8	1	0	0	0	0	1	0	0	0	17632	739	26	3	8579	3	ZFHX4	8	77767702	Missense_Mutation	SNP	C	TCGA-2A-AAYF-01A-11D-A41K-08	9980916	77767702	68596320	14	281											
SNTB1	6641	broad.mit.edu	37	chr8	121823566	121823566	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acgcctgcaccgcctcgtcgTgggtggcgtcccgcaggtcg	3	7	15	16	7	0	0	0	0	0	0	4	0	1	0	4	3	1	2	4	3	0	0			TCGA-2A-AAYF-01A-11D-A41K-08	TCGA-2A-AAYF-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d4f8ba6-7ff3-40ec-af29-7b3450f813a2	b4ade944-957e-4ec1-a880-e330b8de3980	g.chr8:121823566T>C	ENST00000395601.3	-	2	932	c.518A>G	c.(517-519)cAc>cGc	p.H173R	RP11-713M15.2_ENST00000605955.1_RNA|SNTB1_ENST00000517992.1_Missense_Mutation_p.H173R|SNTB1_ENST00000519177.1_5'UTR	NM_021021.3	NP_066301.1	Q13884	SNTB1_HUMAN	syntrophin, beta 1 (dystrophin-associated protein A1, 59kDa, basic component 1)	173	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.|PH 1. {ECO:0000255|PROSITE- ProRule:PRU00145}.				muscle contraction (GO:0006936)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dystrophin-associated glycoprotein complex (GO:0016010)|focal adhesion (GO:0005925)|protein complex (GO:0043234)|synapse (GO:0045202)				NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|prostate(2)|skin(6)	24	Lung NSC(37;4.46e-09)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)		STAD - Stomach adenocarcinoma(47;0.00503)			CGCCTCGTCGTGGGTGGCGTC	0.692																																						ENST00000395601.3																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|prostate(2)|skin(6)	24						c.(517-519)cAc>cGc		syntrophin, beta 1 (dystrophin-associated protein A1, 59kDa, basic component 1)							68	72	71					8																	121823566		2202	4298	6500	SO:0001583	missense	6641				muscle contraction	cell junction|cytoplasm|cytoskeleton|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|calmodulin binding	g.chr8:121823566T>C	AF028828	CCDS6334.1	8q23-q24	2013-01-10	2002-08-29		ENSG00000172164	ENSG00000172164		"Pleckstrin homology (PH) domain containing"	11168	protein-coding gene	gene with protein product	"tax interaction protein 43"	600026	"syntrophin, beta 1 (dystrophin-associated protein A1, 59kD, basic component 1)"	SNT2B1		8183929, 9482110	Standard	NM_021021		Approved	59-DAP, A1B, BSYN2, TIP-43, SNT2	uc010mdg.3	Q13884	OTTHUMG00000165041	ENST00000395601.3:c.518A>G	8.37:g.121823566T>C	ENSP00000378965:p.His173Arg					SNTB1_ENST00000517992.1_Missense_Mutation_p.H173R|SNTB1_ENST00000519177.1_5'UTR	p.H173R	NM_021021.3	NP_066301.1	Q13884	SNTB1_HUMAN	STAD - Stomach adenocarcinoma(47;0.00503)		2	932	-	Lung NSC(37;4.46e-09)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)		173			PDZ.|PH 1.		A8K9E0|O14912|Q4KMG8	Missense_Mutation	SNP	ENST00000395601.3	37	c.518A>G	CCDS6334.1	.	.	.	.	.	.	.	.	.	.	T	28.4	4.914985	0.92178	.	.	ENSG00000172164	ENST00000395601;ENST00000517992	T;T	0.56444	0.46;0.46	4.84	4.84	0.62591	PDZ/DHR/GLGF (4);Pleckstrin homology domain (2);	0.000000	0.85682	D	0.000000	T	0.72661	0.3488	M	0.79011	2.435	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.997	T	0.77343	-0.2623	10	0.87932	D	0	.	14.7111	0.69232	0.0:0.0:0.0:1.0	.	173;173	Q13884;Q13884-2	SNTB1_HUMAN;.	R	173	ENSP00000378965:H173R;ENSP00000431124:H173R	ENSP00000378965:H173R	H	-	2	0	SNTB1	121892747	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.863000	0.87023	1.927000	0.55829	0.459000	0.35465	CAC		0.692	SNTB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381535.1	NM_021021		36	51	0	0	0	1	0	36	51					C	121823566	T	C	121823566	3	2	8	1	0	0	0	0	1	0	0	0	14872	1696	59	4	1126	4	SNTB1	8	121823566	Missense_Mutation	SNP	T	TCGA-2A-AAYF-01A-11D-A41K-08	44055864	121823566	24540456	15	282											
MYPN	84665	broad.mit.edu	37	chr10	69961683	69961683	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggagtgccgcgtgataggCatgcccccacctgtgttcta	6	10	12	13	2	1	1	0	1	1	0	1	2	1	2	4	2	2	2	4	2	2	3			TCGA-2A-AAYF-01A-11D-A41K-08	TCGA-2A-AAYF-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d4f8ba6-7ff3-40ec-af29-7b3450f813a2	b4ade944-957e-4ec1-a880-e330b8de3980	g.chr10:69961683C>T	ENST00000358913.5	+	18	4079	c.3591C>T	c.(3589-3591)ggC>ggT	p.G1197G	MYPN_ENST00000354393.2_Silent_p.G922G|MYPN_ENST00000540630.1_Silent_p.G1197G	NM_001256267.1|NM_032578.3	NP_001243196.1|NP_115967.2	Q86TC9	MYPN_HUMAN	myopalladin	1197	Ig-like 5.|Interaction with ACTN.				sarcomere organization (GO:0045214)	I band (GO:0031674)|nucleus (GO:0005634)|Z disc (GO:0030018)	cytoskeletal protein binding (GO:0008092)|muscle alpha-actinin binding (GO:0051371)|SH3 domain binding (GO:0017124)			breast(2)|central_nervous_system(1)|endometrium(13)|kidney(6)|large_intestine(13)|liver(1)|lung(43)|ovary(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(5)	94						GCGTGATAGGCATGCCCCCAC	0.562																																						ENST00000358913.5																			0				breast(2)|central_nervous_system(1)|endometrium(13)|kidney(6)|large_intestine(13)|liver(1)|lung(43)|ovary(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(5)	94						c.(3589-3591)ggC>ggT		myopalladin							146	130	136					10																	69961683		2203	4300	6503	SO:0001819	synonymous_variant	84665					nucleus|sarcomere	actin binding	g.chr10:69961683C>T	AL834247	CCDS7275.1, CCDS73142.1	10q22.1	2014-09-17			ENSG00000138347	ENSG00000138347		"Immunoglobulin superfamily / I-set domain containing"	23246	protein-coding gene	gene with protein product	"sarcomeric protein myopalladin, 145 kDa"	608517				11309420, 12482578	Standard	NM_032578		Approved	MYOP	uc001jnm.5	Q86TC9	OTTHUMG00000018344	ENST00000358913.5:c.3591C>T	10.37:g.69961683C>T						MYPN_ENST00000354393.2_Silent_p.G922G|MYPN_ENST00000540630.1_Silent_p.G1197G	p.G1197G	NM_001256267.1|NM_032578.3	NP_001243196.1|NP_115967.2	Q86TC9	MYPN_HUMAN			18	4079	+			1197			Ig-like 5.|Interaction with ACTN.		Q5VV35|Q5VV36|Q86T37|Q8N3L4|Q96K90|Q96KF5	Silent	SNP	ENST00000358913.5	37	c.3591C>T	CCDS7275.1																																																																																				0.562	MYPN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048307.1	NM_032578		36	47	0	0	0	1	0	36	47					T	69961683	C	T	69961683	2	4	8	1	0	0	0	0	0	0	0	1	10098	697	25	3		3	MYPN	10	69961683	Silent	SNP	C	TCGA-2A-AAYF-01A-11D-A41K-08		69961683	65573064	16	283											
UTP20	27340	broad.mit.edu	37	chr12	101757394	101757394	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tggtgctgttgctgaagagaAggaagtaaagcagatcctct	12	10	13	6	0	1	3	0	1	1	2	2	5	2	4	1	2	3	5	1	2	5	2			TCGA-2A-AAYF-01A-11D-A41K-08	TCGA-2A-AAYF-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d4f8ba6-7ff3-40ec-af29-7b3450f813a2	b4ade944-957e-4ec1-a880-e330b8de3980	g.chr12:101757394A>G	ENST00000261637.4	+	45	6005	c.5831A>G	c.(5830-5832)aAg>aGg	p.K1944R		NM_014503.2	NP_055318.2	O75691	UTP20_HUMAN	UTP20, small subunit (SSU) processome component, homolog (yeast)	1944					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000480)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000447)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000472)|negative regulation of cell proliferation (GO:0008285)|rRNA processing (GO:0006364)	90S preribosome (GO:0030686)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|preribosome, small subunit precursor (GO:0030688)|small-subunit processome (GO:0032040)	poly(A) RNA binding (GO:0044822)			NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						GCTGAAGAGAAGGAAGTAAAG	0.393																																						ENST00000261637.4																			0				NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						c.(5830-5832)aAg>aGg		UTP20, small subunit (SSU) processome component, homolog (yeast)							122	111	115					12																	101757394		2203	4300	6503	SO:0001583	missense	27340				endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation	90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome	protein binding	g.chr12:101757394A>G	AJ006778	CCDS9081.1	12q23	2006-02-11				ENSG00000120800			17897	protein-coding gene	gene with protein product	"down regulated in metastasis"	612822				9673349, 15590835, 12837249	Standard	NM_014503		Approved	DRIM	uc001tia.1	O75691	OTTHUMG00000170270	ENST00000261637.4:c.5831A>G	12.37:g.101757394A>G	ENSP00000261637:p.Lys1944Arg						p.K1944R	NM_014503.2	NP_055318.2	O75691	UTP20_HUMAN			45	6005	+			1944					Q9H3H4	Missense_Mutation	SNP	ENST00000261637.4	37	c.5831A>G	CCDS9081.1	.	.	.	.	.	.	.	.	.	.	A	28.9	4.962846	0.92791	.	.	ENSG00000120800	ENST00000261637	T	0.50277	0.75	5.92	5.92	0.95590	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.56232	0.1971	L	0.58510	1.815	0.80722	D	1	D	0.60575	0.988	P	0.52309	0.695	T	0.53479	-0.8433	10	0.32370	T	0.25	-23.9861	16.3662	0.83325	1.0:0.0:0.0:0.0	.	1944	O75691	UTP20_HUMAN	R	1944	ENSP00000261637:K1944R	ENSP00000261637:K1944R	K	+	2	0	UTP20	100281525	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.155000	0.94700	2.274000	0.75844	0.533000	0.62120	AAG		0.393	UTP20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408242.1	NM_014503		18	34	0	0	0	1	0	18	34					G	101757394	A	G	101757394	3	3	8	1	0	0	0	0	1	0	0	0	17096	72	3	4	6009	4	UTP20	12	101757394	Missense_Mutation	SNP	A	TCGA-2A-AAYF-01A-11D-A41K-08		101757394	32094501	17	284											
SETD8	387893	broad.mit.edu	37	chr12	123879653	123879653	+	Frame_Shift_Del	DEL	A	A	-																															agtccgaggaacagaagatcAaagacgccaggaaaggtccc																										TCGA-2A-AAYF-01A-11D-A41K-08	TCGA-2A-AAYF-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d4f8ba6-7ff3-40ec-af29-7b3450f813a2	b4ade944-957e-4ec1-a880-e330b8de3980	g.chr12:123879653delA	ENST00000402868.3	+	4	775	c.349delA	c.(349-351)aaafs	p.K117fs	SETD8_ENST00000478781.2_3'UTR|SETD8_ENST00000330479.4_Frame_Shift_Del_p.K117fs			Q9NQR1	SETD8_HUMAN	SET domain containing (lysine methyltransferase) 8	158					histone lysine methylation (GO:0034968)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-lysine monomethylation (GO:0018026)|regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043516)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)|p53 binding (GO:0002039)|protein-lysine N-methyltransferase activity (GO:0016279)|transcription corepressor activity (GO:0003714)			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(4)|prostate(3)|urinary_tract(1)	13	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.00101)|Epithelial(86;0.00425)		ACAGAAGATCAAAGACGCCAG	0.502																																						ENST00000402868.3																			0				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(4)|prostate(3)|urinary_tract(1)	13						c.(349-351)aafs		SET domain containing (lysine methyltransferase) 8							42	42	42					12																	123879653		2202	4299	6501	SO:0001589	frameshift_variant	387893				cell division|mitosis|negative regulation of transcription from RNA polymerase II promoter|peptidyl-lysine monomethylation|regulation of DNA damage response, signal transduction by p53 class mediator|transcription, DNA-dependent	chromosome|nucleus	histone-lysine N-methyltransferase activity|p53 binding|transcription corepressor activity	g.chr12:123879653delA	AY102937	CCDS9247.1	12q24.31	2011-07-01			ENSG00000183955	ENSG00000183955		"Chromatin-modifying enzymes / K-methyltransferases"	29489	protein-coding gene	gene with protein product		607240				15933070, 12086618, 12121615	Standard	NM_020382		Approved	SET8, SET07, PR-Set7, KMT5A	uc001uew.3	Q9NQR1	OTTHUMG00000150477	ENST00000402868.3:c.349delA	12.37:g.123879653delA	ENSP00000384629:p.Lys117fs					SETD8_ENST00000478781.2_3'UTR|SETD8_ENST00000330479.4_Frame_Shift_Del_p.K117fs	p.K117fs			Q9NQR1	SETD8_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.00101)|Epithelial(86;0.00425)	4	775	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		158					A8K9D0|Q86W83|Q8TD09	Frame_Shift_Del	DEL	ENST00000402868.3	37	c.349delA	CCDS9247.1																																																																																				0.502	SETD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318263.1	NM_020382		2	4						2	4	---	---	---	---	-	123879653	A	-	123879653	7	5	8	1	0	1	0	1	0	0	0	0	14137	131	5	0	363	0	SETD8	12	123879653	Frame_Shift_Del	DEL	A	TCGA-2A-AAYF-01A-11D-A41K-08	22122259	123879653	9972242	18	285											
FOXG1	2290	broad.mit.edu	37	chr14	29237877	29237877	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccctctttgccaagttttacGacgggactgtctgggggact	6	12	12	11	2	2	0	0	0	2	0	2	3	2	2	2	3	2	1	2	3	2	3			TCGA-2A-AAYF-01A-11D-A41K-08	TCGA-2A-AAYF-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d4f8ba6-7ff3-40ec-af29-7b3450f813a2	b4ade944-957e-4ec1-a880-e330b8de3980	g.chr14:29237877G>A	ENST00000313071.4	+	1	1591	c.1392G>A	c.(1390-1392)acG>acA	p.T464T	FOXG1_ENST00000382535.3_Silent_p.T464T	NM_005249.4	NP_005240.3	P55316	FOXG1_HUMAN	forkhead box G1	464					aging (GO:0007568)|axon midline choice point recognition (GO:0016199)|brain development (GO:0007420)|dorsal/ventral pattern formation (GO:0009953)|inner ear morphogenesis (GO:0042472)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron fate determination (GO:0048664)|positive regulation of cell cycle (GO:0045787)|positive regulation of neuroblast proliferation (GO:0002052)|pyramidal neuron migration (GO:0021852)|regulation of mitotic cell cycle (GO:0007346)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(2)	43			LUAD - Lung adenocarcinoma(48;0.011)|Lung(238;0.0575)	GBM - Glioblastoma multiforme(265;0.00413)		CAAGTTTTACGACGGGACTGT	0.547																																						ENST00000382535.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(2)	43						c.(1390-1392)acG>acA		forkhead box G1							85	85	85					14																	29237877		2203	4300	6503	SO:0001819	synonymous_variant	2290				axon midline choice point recognition|central nervous system neuron development|dorsal/ventral pattern formation|embryo development ending in birth or egg hatching|hindbrain development|inner ear morphogenesis|negative regulation of neuron differentiation|negative regulation of transcription, DNA-dependent|nonmotile primary cilium assembly|nose development|positive regulation of cell cycle|positive regulation of neuroblast proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of mitotic cell cycle|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chr14:29237877G>A		CCDS9636.1	14q11-q13	2007-10-05	2007-05-16	2007-05-16	ENSG00000176165	ENSG00000176165		"Forkhead boxes"	3811	protein-coding gene	gene with protein product		164874	"forkhead box G1B", "forkhead box G1C", "forkhead box G1A"	FKHL2, FOXG1B, FKHL4, FKH2, FKHL1, FOXG1C, FKHL3, FOXG1A		7959731, 17260156	Standard	NM_005249		Approved	HFK2, QIN, BF1, HFK1, HFK3, HBF-3	uc001wqe.4	P55316	OTTHUMG00000140187	ENST00000313071.4:c.1392G>A	14.37:g.29237877G>A						FOXG1_ENST00000313071.4_Silent_p.T464T	p.T464T			P55316	FOXG1_HUMAN	LUAD - Lung adenocarcinoma(48;0.011)|Lung(238;0.0575)	GBM - Glioblastoma multiforme(265;0.00413)	2	1761	+			464					A6NFY2|P55315|Q14488|Q86XT7	Silent	SNP	ENST00000313071.4	37	c.1392G>A	CCDS9636.1																																																																																				0.547	FOXG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276559.3			52	69	0	0	0	1	0	52	69					A	29237877	G	A	29237877	2	1	8	1	0	0	0	0	0	0	0	1	6007	1045	37	2		2	FOXG1	14	29237877	Silent	SNP	G	TCGA-2A-AAYF-01A-11D-A41K-08		29237877	78111663	19	286											
HSP90AA1	3320	broad.mit.edu	37	chr14	102551071	102551071	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caagctcttatagaattctcCgtactcctcattagtaatat	12	15	4	10	1	3	1	1	0	2	1	5	1	4	1	2	0	2	3	2	0	8	7			TCGA-2A-AAYF-01A-11D-A41K-08	TCGA-2A-AAYF-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d4f8ba6-7ff3-40ec-af29-7b3450f813a2	b4ade944-957e-4ec1-a880-e330b8de3980	g.chr14:102551071C>G	ENST00000216281.8	-	5	1133	c.928G>C	c.(928-930)Gga>Cga	p.G310R	HSP90AA1_ENST00000334701.7_Missense_Mutation_p.G432R|HSP90AA1_ENST00000441629.2_Missense_Mutation_p.G131R	NM_005348.3	NP_005339.3	P07900	HS90A_HUMAN	heat shock protein 90kDa alpha (cytosolic), class A member 1	310					ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|chaperone-mediated protein complex assembly (GO:0051131)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|G2/M transition of mitotic cell cycle (GO:0000086)|innate immune response (GO:0045087)|mitochondrial transport (GO:0006839)|mitotic cell cycle (GO:0000278)|nitric oxide metabolic process (GO:0046209)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|protein import into mitochondrial outer membrane (GO:0045040)|protein refolding (GO:0042026)|regulation of nitric-oxide synthase activity (GO:0050999)|response to unfolded protein (GO:0006986)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle lumen (GO:0071682)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|identical protein binding (GO:0042802)|MHC class II protein complex binding (GO:0023026)|nitric-oxide synthase regulator activity (GO:0030235)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|TPR domain binding (GO:0030911)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(6)|large_intestine(3)|liver(1)|lung(10)|ovary(2)|prostate(1)	28					Nedocromil(DB00716)|Rifabutin(DB00615)	TAGAATTCTCCGTACTCCTCA	0.418																																						ENST00000334701.7																			0				breast(1)|central_nervous_system(2)|endometrium(2)|kidney(6)|large_intestine(3)|liver(1)|lung(10)|ovary(2)|prostate(1)	28						c.(1294-1296)Gga>Cga		heat shock protein 90kDa alpha (cytosolic), class A member 1	Rifabutin(DB00615)						139	131	134					14																	102551071		2203	4300	6503	SO:0001583	missense	3320				axon guidance|cellular chaperone-mediated protein complex assembly|G2/M transition of mitotic cell cycle|nitric oxide metabolic process|positive regulation of nitric oxide biosynthetic process|protein import into mitochondrial outer membrane|protein refolding|regulation of nitric-oxide synthase activity|response to unfolded protein|signal transduction	cytosol|melanosome|plasma membrane	ATP binding|ATPase activity|nitric-oxide synthase regulator activity|protein homodimerization activity|TPR domain binding|unfolded protein binding	g.chr14:102551071C>G	M27024	CCDS9967.1, CCDS32160.1	14q32.33	2011-09-02	2006-02-24	2006-02-24	ENSG00000080824	ENSG00000080824		"Heat shock proteins / HSPC"	5253	protein-coding gene	gene with protein product		140571	"heat shock 90kD protein 1, alpha", "heat shock 90kDa protein 1, alpha"	HSPC1, HSPCA		2527334, 16269234	Standard	NM_001017963		Approved	Hsp89, Hsp90, FLJ31884, HSP90N	uc001ykv.4	P07900		ENST00000216281.8:c.928G>C	14.37:g.102551071C>G	ENSP00000216281:p.Gly310Arg					HSP90AA1_ENST00000216281.8_Missense_Mutation_p.G310R|HSP90AA1_ENST00000441629.2_Missense_Mutation_p.G131R	p.G432R	NM_001017963.2	NP_001017963.2	P07900	HS90A_HUMAN			6	1575	-			310					A8K500|B3KPJ9|Q2PP14|Q5CAQ6|Q5CAQ7|Q9BVQ5	Missense_Mutation	SNP	ENST00000216281.8	37	c.1294G>C	CCDS9967.1	.	.	.	.	.	.	.	.	.	.	c	26.3	4.720186	0.89205	.	.	ENSG00000080824	ENST00000216281;ENST00000334701;ENST00000441629	T;T;T	0.09445	2.98;2.98;2.98	4.47	4.47	0.54385	Ribosomal protein S5 domain 2-type fold (1);	0.000000	0.64402	U	0.000001	T	0.38639	0.1048	M	0.85945	2.785	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.984;0.998;0.997	T	0.46775	-0.9167	10	0.87932	D	0	-24.0844	17.1138	0.86683	0.0:1.0:0.0:0.0	.	131;432;310	Q86U12;P07900-2;P07900	.;.;HS90A_HUMAN	R	310;432;131	ENSP00000216281:G310R;ENSP00000335153:G432R;ENSP00000396189:G131R	ENSP00000216281:G310R	G	-	1	0	HSP90AA1	101620824	1.000000	0.71417	0.435000	0.26784	0.938000	0.57974	7.592000	0.82676	2.200000	0.70718	0.655000	0.94253	GGA		0.418	HSP90AA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414952.2	NM_005348		57	89	0	0	0	1	0	57	89					G	102551071	C	G	102551071	3	3	8	1	0	0	0	0	1	0	0	0	7401	661	23	5	1298	5	HSP90AA1	14	102551071	Missense_Mutation	SNP	C	TCGA-2A-AAYF-01A-11D-A41K-08	73313194	102551071	4798469	20	287											
HERC2	8924	broad.mit.edu	37	chr15	28463681	28463681	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	actaacattcgcagcagtccGcataaagtcttggtggcttc	10	11	9	11	2	1	0	0	0	1	0	4	0	2	0	1	2	2	4	1	2	3	5	rs376870436		TCGA-2A-AAYF-01A-11D-A41K-08	TCGA-2A-AAYF-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d4f8ba6-7ff3-40ec-af29-7b3450f813a2	b4ade944-957e-4ec1-a880-e330b8de3980	g.chr15:28463681G>A	ENST00000261609.7	-	38	6090	c.5982C>T	c.(5980-5982)tgC>tgT	p.C1994C		NM_004667.5	NP_004658.3			HECT and RLD domain containing E3 ubiquitin protein ligase 2									p.C1994C(1)		NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		GCAGCAGTCCGCATAAAGTCT	0.517																																						ENST00000261609.7																			1	Substitution - coding silent(1)	p.C1994C(1)	lung(1)	NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204						c.(5980-5982)tgC>tgT		HECT and RLD domain containing E3 ubiquitin protein ligase 2		G		1,2789		0,1,1394	129	145	139		5982	0.3	1	15		139	0,4764		0,0,2382	no	coding-synonymous	HERC2	NM_004667.4		0,1,3776	AA,AG,GG		0.0,0.0358,0.0132		1994/4835	28463681	1,7553	1395	2382	3777	SO:0001819	synonymous_variant	8924				DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr15:28463681G>A	AF071172	CCDS10021.1	15q13	2012-02-23	2012-02-23		ENSG00000128731	ENSG00000128731			4868	protein-coding gene	gene with protein product		605837	"hect domain and RLD 2"			9949213	Standard	NM_004667		Approved	jdf2, p528, D15F37S1	uc001zbj.4	O95714	OTTHUMG00000129251	ENST00000261609.7:c.5982C>T	15.37:g.28463681G>A							p.C1994C	NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)	38	6090	-		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)	1994						Silent	SNP	ENST00000261609.7	37	c.5982C>T	CCDS10021.1																																																																																				0.517	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251358.2	NM_004667		4	145	0	0	0	1	0	4	145					A	28463681	G	A	28463681	2	1	8	1	0	0	0	0	0	0	0	1	7058	1079	38	1		1	HERC2	15	28463681	Silent	SNP	G	TCGA-2A-AAYF-01A-11D-A41K-08		28463681	74067711	21	288											
CORO2B	10391	broad.mit.edu	37	chr15	68937526	68937541	+	Frame_Shift_Del	DEL	TCCAAGTTCCGGAATG	TCCAAGTTCCGGAATG	-																															ggcgtccgcaataccgtagcTccaagttccggaatgtctac																								rs372843642		TCGA-2A-AAYF-01A-11D-A41K-08	TCGA-2A-AAYF-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d4f8ba6-7ff3-40ec-af29-7b3450f813a2	b4ade944-957e-4ec1-a880-e330b8de3980	g.chr15:68937526_68937541delTCCAAGTTCCGGAATG	ENST00000566799.1	+	2	72_87	c.43_58delTCCAAGTTCCGGAATG	c.(43-60)tccaagttccggaatgtcfs	p.SKFRNV15fs	CORO2B_ENST00000543950.1_Frame_Shift_Del_p.SKFRNV10fs|CORO2B_ENST00000540068.1_Frame_Shift_Del_p.SKFRNV10fs|CORO2B_ENST00000261861.5_Frame_Shift_Del_p.SKFRNV10fs			Q9UQ03	COR2B_HUMAN	coronin, actin binding protein, 2B	15					actin cytoskeleton organization (GO:0030036)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|membrane (GO:0016020)	actin binding (GO:0003779)|actin filament binding (GO:0051015)	p.R18Q(1)		kidney(3)|large_intestine(13)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36						ATACCGTAGCTCCAAGTTCCGGAATGTCTACGGGAA	0.611																																						ENST00000543950.1																			1	Substitution - Missense(1)	p.R18Q(1)	large_intestine(1)	kidney(3)|large_intestine(13)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36						c.(28-45)tcfs		coronin, actin binding protein, 2B																																				SO:0001589	frameshift_variant	10391				actin cytoskeleton organization	actin cytoskeleton|cytoplasm|membrane	actin filament binding	g.chr15:68937526_68937541delTCCAAGTTCCGGAATG	AB010098	CCDS53952.1, CCDS10229.2	15q22.31	2013-01-10	2001-11-28		ENSG00000103647	ENSG00000103647		"Coronins", "WD repeat domain containing"	2256	protein-coding gene	gene with protein product	"clipin C", "coronin, actin-binding, 2B"	605002	"coronin, actin-binding protein, 2B"			10224093, 10231032	Standard	NM_001190456		Approved	ClipinC, KIAA0925	uc021spj.1	Q9UQ03	OTTHUMG00000133288	ENST00000566799.1:c.43_58delTCCAAGTTCCGGAATG	15.37:g.68937526_68937541delTCCAAGTTCCGGAATG	ENSP00000454783:p.Ser15fs					CORO2B_ENST00000540068.1_Frame_Shift_Del_p.SKFRNV10fs|CORO2B_ENST00000566799.1_Frame_Shift_Del_p.SKFRNV15fs|CORO2B_ENST00000261861.5_Frame_Shift_Del_p.SKFRNV10fs	p.SKFRNV10fs	NM_001190457.1	NP_001177386.1	Q9UQ03	COR2B_HUMAN			2	382_397	+			15					A8K0W3|O94767|Q8TAN1	Frame_Shift_Del	DEL	ENST00000566799.1	37	c.28_43delTCCAAGTTCCGGAATG	CCDS10229.2																																																																																				0.611	CORO2B-203	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_006091		5	9						5	9	---	---	---	---	-	68937541	TCCAAGTTCCGGAATG	-	68937526	7	5	8	1	0	1	0	1	0	0	0	0	3757	1551	54	0	49	0	CORO2B	15	68937526	Frame_Shift_Del	DEL	TCCAAGTTCCGGAATG	TCGA-2A-AAYF-01A-11D-A41K-08	40473845	68937526	33593866	22	289											
WDR7	23335	broad.mit.edu	37	chr18	54339808	54339808	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcgaaaagcgcccacacattGcatctcagccgtacttttaa	12	10	6	13	3	1	0	1	0	1	0	3	1	1	0	2	0	4	2	2	0	4	4			TCGA-2A-AAYF-01A-11D-A41K-08	TCGA-2A-AAYF-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d4f8ba6-7ff3-40ec-af29-7b3450f813a2	b4ade944-957e-4ec1-a880-e330b8de3980	g.chr18:54339808G>T	ENST00000254442.3	+	2	273	c.62G>T	c.(61-63)tGc>tTc	p.C21F	WDR7_ENST00000589935.1_Intron|WDR7_ENST00000357574.3_Missense_Mutation_p.C21F	NM_015285.2	NP_056100.2	Q9Y4E6	WDR7_HUMAN	WD repeat domain 7	21					hematopoietic progenitor cell differentiation (GO:0002244)					NS(1)|breast(5)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(37)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	78				Lung(128;0.0238)|Colorectal(16;0.0296)		CCCACACATTGCATCTCAGCC	0.433																																						ENST00000254442.3																			0				NS(1)|breast(5)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(37)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	78						c.(61-63)tGc>tTc		WD repeat domain 7							96	83	88					18																	54339808		2203	4300	6503	SO:0001583	missense	23335							g.chr18:54339808G>T	AB011113	CCDS11962.1, CCDS11963.1	18q21.31	2013-01-09			ENSG00000091157	ENSG00000091157		"WD repeat domain containing"	13490	protein-coding gene	gene with protein product		613473				10828621	Standard	XM_005266674		Approved	KIAA0541, TRAG	uc002lgk.1	Q9Y4E6	OTTHUMG00000132721	ENST00000254442.3:c.62G>T	18.37:g.54339808G>T	ENSP00000254442:p.Cys21Phe					WDR7_ENST00000589935.1_Intron|WDR7_ENST00000357574.3_Missense_Mutation_p.C21F	p.C21F	NM_015285.2	NP_056100.2	Q9Y4E6	WDR7_HUMAN		Lung(128;0.0238)|Colorectal(16;0.0296)	2	273	+			21					A7E2C8|Q86UX5|Q86VP2|Q96PS7	Missense_Mutation	SNP	ENST00000254442.3	37	c.62G>T	CCDS11962.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.369801	0.82573	.	.	ENSG00000091157	ENST00000254442;ENST00000357574;ENST00000444065;ENST00000398311	T;T	0.58652	0.32;0.32	5.72	5.72	0.89469	WD40/YVTN repeat-like-containing domain (1);Quinonprotein alcohol dehydrogenase-like (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.65004	0.2650	L	0.31294	0.92	0.80722	D	1	D;D	0.76494	0.998;0.999	P;D	0.87578	0.899;0.998	T	0.55717	-0.8097	10	0.10111	T	0.7	.	19.4836	0.95020	0.0:0.0:1.0:0.0	.	21;21	Q9Y4E6-2;Q9Y4E6	.;WDR7_HUMAN	F	21	ENSP00000254442:C21F;ENSP00000350187:C21F	ENSP00000254442:C21F	C	+	2	0	WDR7	52490806	1.000000	0.71417	0.999000	0.59377	0.737000	0.42083	7.308000	0.78929	2.700000	0.92200	0.563000	0.77884	TGC		0.433	WDR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256062.1			25	64	1	0	3.17567e-06	1	3.34281e-06	25	64					T	54339808	G	T	54339808	3	4	8	1	0	0	0	0	1	0	0	0	17317	1319	46	5	64	5	WDR7	18	54339808	Missense_Mutation	SNP	G	TCGA-2A-AAYF-01A-11D-A41K-08		54339808	23737440	23	290											
SBSN	374897	broad.mit.edu	37	chr19	36018434	36018434	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctcatttccggcctgcccCgcagcatggtgggccccctg	3	8	12	18	2	1	0	1	0	0	0	2	0	2	0	7	3	2	2	7	3	0	1			TCGA-2A-AAYF-01A-11D-A41K-08	TCGA-2A-AAYF-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d4f8ba6-7ff3-40ec-af29-7b3450f813a2	b4ade944-957e-4ec1-a880-e330b8de3980	g.chr19:36018434C>T	ENST00000452271.2	-	1	778	c.750G>A	c.(748-750)gcG>gcA	p.A250A	SBSN_ENST00000518157.1_Intron	NM_001166034.1	NP_001159506.1	Q6UWP8	SBSN_HUMAN	suprabasin	250	Ala/Gly/His-rich.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)				large_intestine(5)|lung(6)|ovary(1)|prostate(2)	14	all_lung(56;1.62e-08)|Lung NSC(56;2.47e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			CGGCCTGCCCCGCAGCATGGT	0.627																																						ENST00000452271.2																			0				large_intestine(5)|lung(6)|ovary(1)|prostate(2)	14						c.(748-750)gcG>gcA		suprabasin							31	37	35					19																	36018434		692	1591	2283	SO:0001819	synonymous_variant	374897					extracellular region		g.chr19:36018434C>T	AY358701	CCDS12464.1, CCDS54253.1	19q13.13	2008-02-05							24950	protein-coding gene	gene with protein product		609969				12228223	Standard	NM_198538		Approved	UNQ698, HLAR698	uc002oad.2	Q6UWP8		ENST00000452271.2:c.750G>A	19.37:g.36018434C>T						SBSN_ENST00000518157.1_Intron	p.A250A	NM_001166034.1	NP_001159506.1	Q6UWP8	SBSN_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0724)		1	778	-	all_lung(56;1.62e-08)|Lung NSC(56;2.47e-08)|Esophageal squamous(110;0.162)		123					A8K5J0|E9PBV3	Silent	SNP	ENST00000452271.2	37	c.750G>A	CCDS54253.1																																																																																				0.627	SBSN-002	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000109463.3	NM_198538		3	5	0	0	0	1	0	3	5					T	36018434	C	T	36018434	2	4	8	1	0	0	0	0	0	0	0	1	13864	639	23	2		2	SBSN	19	36018434	Silent	SNP	C	TCGA-2A-AAYF-01A-11D-A41K-08		36018434	23110549	24	291											
SLC45A1	50651	broad.mit.edu	37	chr1	8404029	8404029	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	tttatgaaattcctcccagcGacgctgcagacgaggagcac	11	8	10	12	3	0	2	0	1	0	1	2	5	2	3	2	1	3	3	2	1	2	3	rs560191786		TCGA-2A-AAYO-01A-11D-A41K-08	TCGA-2A-AAYO-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f519e32d-0ee8-4f58-975c-3d717fb4e774	441ada11-8a1f-40e6-8c6e-6ba3b7c22b4b	g.chr1:8404029G>C	ENST00000471889.1	+	9	2588	c.2203G>C	c.(2203-2205)Gac>Cac	p.D735H	SLC45A1_ENST00000289877.8_Missense_Mutation_p.D735H|SLC45A1_ENST00000377479.2_Missense_Mutation_p.D769H			Q9Y2W3	S45A1_HUMAN	solute carrier family 45, member 1	735					carbohydrate transport (GO:0008643)	integral component of membrane (GO:0016021)	symporter activity (GO:0015293)			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(2)	33	Ovarian(185;0.0661)|all_lung(157;0.127)	all_epithelial(116;1.22e-15)|all_lung(118;0.000147)|Lung NSC(185;0.000251)|Renal(390;0.000469)|Colorectal(325;0.00578)|Breast(348;0.00686)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;3.95e-66)|GBM - Glioblastoma multiforme(8;5.93e-33)|Colorectal(212;2.86e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|Kidney(185;5.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|KIRC - Kidney renal clear cell carcinoma(229;0.000979)|STAD - Stomach adenocarcinoma(132;0.00199)|READ - Rectum adenocarcinoma(331;0.0649)		TCCTCCCAGCGACGCTGCAGA	0.632																																						ENST00000471889.1																			0				central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(2)	33						c.(2203-2205)Gac>Cac		solute carrier family 45, member 1							81	67	72					1																	8404029		2203	4300	6503	SO:0001583	missense	50651				carbohydrate transport	integral to membrane	symporter activity	g.chr1:8404029G>C	AF118274	CCDS30577.1	1p36.23	2014-01-28	2005-10-04	2005-10-04	ENSG00000162426	ENSG00000162426		"Solute carriers"	17939	protein-coding gene	gene with protein product	"H+/sugar symporter"	605763	"deleted in neuroblastoma 5"	DNB5		10729226	Standard	XM_005263467		Approved		uc001apb.3	Q9Y2W3	OTTHUMG00000000503	ENST00000471889.1:c.2203G>C	1.37:g.8404029G>C	ENSP00000418096:p.Asp735His					SLC45A1_ENST00000377479.2_Missense_Mutation_p.D769H|SLC45A1_ENST00000289877.8_Missense_Mutation_p.D735H	p.D735H			Q9Y2W3	S45A1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;3.95e-66)|GBM - Glioblastoma multiforme(8;5.93e-33)|Colorectal(212;2.86e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|Kidney(185;5.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|KIRC - Kidney renal clear cell carcinoma(229;0.000979)|STAD - Stomach adenocarcinoma(132;0.00199)|READ - Rectum adenocarcinoma(331;0.0649)	9	2588	+	Ovarian(185;0.0661)|all_lung(157;0.127)	all_epithelial(116;1.22e-15)|all_lung(118;0.000147)|Lung NSC(185;0.000251)|Renal(390;0.000469)|Colorectal(325;0.00578)|Breast(348;0.00686)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11)	735					Q5VY46|Q5VY49	Missense_Mutation	SNP	ENST00000471889.1	37	c.2203G>C	CCDS30577.1	.	.	.	.	.	.	.	.	.	.	G	15.95	2.984899	0.53934	.	.	ENSG00000162426	ENST00000471889;ENST00000377479;ENST00000289877	T;T;T	0.19806	2.14;2.12;2.14	5.1	5.1	0.69264	Major facilitator superfamily domain, general substrate transporter (1);	0.569133	0.18484	N	0.139842	T	0.30417	0.0764	L	0.34521	1.04	0.58432	D	0.999999	P	0.52842	0.956	P	0.54431	0.752	T	0.01829	-1.1265	10	0.45353	T	0.12	-17.4717	17.513	0.87765	0.0:0.0:1.0:0.0	.	735	Q9Y2W3	S45A1_HUMAN	H	735;769;735	ENSP00000418096:D735H;ENSP00000366699:D769H;ENSP00000289877:D735H	ENSP00000289877:D735H	D	+	1	0	SLC45A1	8326616	1.000000	0.71417	0.034000	0.17996	0.032000	0.12392	7.360000	0.79487	2.363000	0.80096	0.555000	0.69702	GAC		0.632	SLC45A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001245.5			8	33	0	0	0	1	0	8	33					C	8404029	G	C	8404029	3	2	9	1	0	0	0	0	1	0	0	0	14640	1058	37	5	2233	5	SLC45A1	1	8404029	Missense_Mutation	SNP	G	TCGA-2A-AAYO-01A-11D-A41K-08		8404029	240846592	1	292											
NBPF3	84224	broad.mit.edu	37	chr1	21798095	21798095	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggttcactctcaggaacgAgagctgacccagttaaggga	11	8	12	10	1	2	2	2	1	1	1	3	5	2	4	1	3	2	3	1	3	2	2			TCGA-2A-AAYO-01A-11D-A41K-08	TCGA-2A-AAYO-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f519e32d-0ee8-4f58-975c-3d717fb4e774	441ada11-8a1f-40e6-8c6e-6ba3b7c22b4b	g.chr1:21798095A>G	ENST00000318249.5	+	5	830	c.480A>G	c.(478-480)cgA>cgG	p.R160R	NBPF3_ENST00000454000.2_Silent_p.R90R|NBPF3_ENST00000342104.5_Silent_p.R160R|NBPF3_ENST00000318220.6_Silent_p.R104R	NM_032264.3	NP_115640.1	Q9H094	NBPF3_HUMAN	neuroblastoma breakpoint family, member 3	160						cytoplasm (GO:0005737)				breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	20		all_lung(284;2.16e-05)|Lung NSC(340;2.19e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|OV - Ovarian serous cystadenocarcinoma(117;7.53e-27)|COAD - Colon adenocarcinoma(152;1.18e-05)|GBM - Glioblastoma multiforme(114;3.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000143)|STAD - Stomach adenocarcinoma(196;0.00306)|KIRC - Kidney renal clear cell carcinoma(1967;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		CTCAGGAACGAGAGCTGACCC	0.473																																						ENST00000318220.6																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	20						c.(310-312)cgA>cgG		neuroblastoma breakpoint family, member 3							118	131	127					1																	21798095		2202	4296	6498	SO:0001819	synonymous_variant	84224					cytoplasm		g.chr1:21798095A>G	BC024011	CCDS216.1, CCDS57976.1, CCDS57977.1	1p36.12	2013-01-17			ENSG00000142794	ENSG00000142794		"neuroblastoma breakpoint family"	25076	protein-coding gene	gene with protein product		612992				11230166, 16079250	Standard	NM_032264		Approved	AE2	uc001ber.4	Q9H094	OTTHUMG00000002944	ENST00000318249.5:c.480A>G	1.37:g.21798095A>G						NBPF3_ENST00000342104.5_Silent_p.R160R|NBPF3_ENST00000454000.2_Silent_p.R90R|NBPF3_ENST00000318249.5_Silent_p.R160R	p.R104R			Q9H094	NBPF3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|OV - Ovarian serous cystadenocarcinoma(117;7.53e-27)|COAD - Colon adenocarcinoma(152;1.18e-05)|GBM - Glioblastoma multiforme(114;3.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000143)|STAD - Stomach adenocarcinoma(196;0.00306)|KIRC - Kidney renal clear cell carcinoma(1967;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)	8	1360	+		all_lung(284;2.16e-05)|Lung NSC(340;2.19e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)	160					A8K965|B4DSP2|I3L0I8|Q3BBW1|Q5VTG2|Q5VTG3|Q5VTG4|Q8IX78|Q8ND86|Q8TC96	Silent	SNP	ENST00000318249.5	37	c.312A>G	CCDS216.1																																																																																				0.473	NBPF3-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_032264		4	199	0	0	0	1	0	4	199					G	21798095	A	G	21798095	2	3	9	1	0	0	0	0	0	0	0	1	10197	291	11	4		4	NBPF3	1	21798095	Silent	SNP	A	TCGA-2A-AAYO-01A-11D-A41K-08	13394066	21798095	227452526	2	293											
HPDL	84842	broad.mit.edu	37	chr1	45793570	45793570	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gtggagcagttcctggcccgGcacaaggggccaggcctgca	7	5	16	13	1	0	0	0	0	0	0	1	1	1	1	4	6	2	4	4	6	1	1	rs150145508	byFrequency	TCGA-2A-AAYO-01A-11D-A41K-08	TCGA-2A-AAYO-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f519e32d-0ee8-4f58-975c-3d717fb4e774	441ada11-8a1f-40e6-8c6e-6ba3b7c22b4b	g.chr1:45793570G>A	ENST00000334815.3	+	1	1026	c.750G>A	c.(748-750)cgG>cgA	p.R250R		NM_032756.2	NP_116145.1	Q96IR7	HPDL_HUMAN	4-hydroxyphenylpyruvate dioxygenase-like	250					aromatic amino acid family metabolic process (GO:0009072)		4-hydroxyphenylpyruvate dioxygenase activity (GO:0003868)|metal ion binding (GO:0046872)	p.R250R(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(1)	4	Acute lymphoblastic leukemia(166;0.155)					TCCTGGCCCGGCACAAGGGGC	0.662																																						ENST00000334815.3																			1	Substitution - coding silent(1)	p.R250R(1)	kidney(1)	endometrium(1)|kidney(1)|large_intestine(1)|lung(1)	4						c.(748-750)cgG>cgA		4-hydroxyphenylpyruvate dioxygenase-like							57	63	61					1																	45793570		2203	4300	6503	SO:0001819	synonymous_variant	84842				aromatic amino acid family metabolic process		4-hydroxyphenylpyruvate dioxygenase activity|metal ion binding	g.chr1:45793570G>A	BC007293	CCDS519.1	1p34.1	2008-02-05	2007-03-14	2007-03-14	ENSG00000186603	ENSG00000186603			28242	protein-coding gene	gene with protein product			"glyoxalase domain containing 1"	GLOXD1		12477932	Standard	NM_032756		Approved	MGC15668, 4-HPPD-L	uc001cne.3	Q96IR7	OTTHUMG00000007681	ENST00000334815.3:c.750G>A	1.37:g.45793570G>A							p.R250R	NM_032756.2	NP_116145.1	Q96IR7	HPDL_HUMAN			1	1026	+	Acute lymphoblastic leukemia(166;0.155)		250					B2R9B0	Silent	SNP	ENST00000334815.3	37	c.750G>A	CCDS519.1																																																																																				0.662	HPDL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000020527.1	NM_032756		4	102	0	0	0	1	0	4	102					A	45793570	G	A	45793570	2	1	9	1	0	0	0	0	0	0	0	1	7333	1190	42	3		3	HPDL	1	45793570	Silent	SNP	G	TCGA-2A-AAYO-01A-11D-A41K-08	23995475	45793570	203457051	3	294											
NPR1	4881	broad.mit.edu	37	chr1	153661480	153661480	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctgtcccgcatggagcagtaCgcgaacaatctggaggaact	11	7	12	11	3	1	0	0	0	1	0	2	4	2	3	1	3	4	3	1	3	4	1	rs145546823	byFrequency	TCGA-2A-AAYO-01A-11D-A41K-08	TCGA-2A-AAYO-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f519e32d-0ee8-4f58-975c-3d717fb4e774	441ada11-8a1f-40e6-8c6e-6ba3b7c22b4b	g.chr1:153661480C>T	ENST00000368680.3	+	16	2941	c.2469C>T	c.(2467-2469)taC>taT	p.Y823Y		NM_000906.3	NP_000897.3	P16066	ANPRA_HUMAN	natriuretic peptide receptor 1	823					body fluid secretion (GO:0007589)|cell surface receptor signaling pathway (GO:0007166)|cGMP biosynthetic process (GO:0006182)|dopamine metabolic process (GO:0042417)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell growth (GO:0030308)|negative regulation of smooth muscle cell proliferation (GO:0048662)|positive regulation of cGMP biosynthetic process (GO:0030828)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of urine volume (GO:0035810)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of blood pressure (GO:0008217)|regulation of blood vessel size (GO:0050880)|regulation of vascular permeability (GO:0043114)|regulation of vasodilation (GO:0042312)	integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|G-protein coupled peptide receptor activity (GO:0008528)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|hormone binding (GO:0042562)|natriuretic peptide receptor activity (GO:0016941)|peptide hormone binding (GO:0017046)|protein kinase activity (GO:0004672)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(17)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)		Amyl Nitrite(DB01612)|Erythrityl Tetranitrate(DB01613)|Isosorbide Dinitrate(DB00883)|Nesiritide(DB04899)|Nitroglycerin(DB00727)|Nitroprusside(DB00325)	TGGAGCAGTACGCGAACAATC	0.622													C|||	2	0.000399361	0	0	5008	,	,		18694	0		0.001	False		,,,				2504	0.001				Pancreas(141;1349 1870 15144 15830 40702)	ENST00000368680.3																			0				NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(17)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42						c.(2467-2469)taC>taT		natriuretic peptide receptor A/guanylate cyclase A (atrionatriuretic peptide receptor A)	Erythrityl Tetranitrate(DB01613)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Nesiritide(DB04899)|Nitric Oxide(DB00435)|Nitroglycerin(DB00727)|Nitroprusside(DB00325)	C		0,4406		0,0,2203	144	127	133		2469	-4.9	0.7	1	dbSNP_134	133	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	NPR1	NM_000906.3		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		823/1062	153661480	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	4881				body fluid secretion|intracellular signal transduction|negative regulation of angiogenesis|negative regulation of cell growth|positive regulation of renal sodium excretion|positive regulation of urine volume|receptor guanylyl cyclase signaling pathway|regulation of blood pressure|regulation of blood vessel size|regulation of vascular permeability|regulation of vasodilation		ATP binding|GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|peptide receptor activity, G-protein coupled|protein kinase activity	g.chr1:153661480C>T	BC063304	CCDS1051.1	1q21-q22	2014-03-03	2014-03-03		ENSG00000169418	ENSG00000169418			7943	protein-coding gene	gene with protein product	"guanylate cyclase A"	108960	"atrionatriuretic peptide receptor A", "natriuretic peptide receptor A"	ANPRA, NPRA		1979052	Standard	NM_000906		Approved	GUCY2A, ANPa	uc001fcs.4	P16066	OTTHUMG00000037085	ENST00000368680.3:c.2469C>T	1.37:g.153661480C>T							p.Y823Y	NM_000906.3	NP_000897.3	P16066	ANPRA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.151)		16	2941	+	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		823					B0ZBF0|Q5SR08|Q6P4Q3	Silent	SNP	ENST00000368680.3	37	c.2469C>T	CCDS1051.1																																																																																				0.622	NPR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090034.1	NM_000906		32	74	0	0	0	1	0	32	74					T	153661480	C	T	153661480	2	4	9	1	0	0	0	0	0	0	0	1	10594	547	19	1		1	NPR1	1	153661480	Silent	SNP	C	TCGA-2A-AAYO-01A-11D-A41K-08	107867910	153661480	95589141	4	295											
C2orf86	51057	broad.mit.edu	37	chr2	63660945	63660945	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tccttctcagaagaaatgggGgcccaaggccaagcatcatc	12	7	10	12	0	2	2	2	0	1	2	5	2	3	2	3	3	1	1	3	3	4	1			TCGA-2A-AAYO-01A-11D-A41K-08	TCGA-2A-AAYO-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f519e32d-0ee8-4f58-975c-3d717fb4e774	441ada11-8a1f-40e6-8c6e-6ba3b7c22b4b	g.chr2:63660945G>T	ENST00000272321.7	-	9	1286	c.759C>A	c.(757-759)gcC>gcA	p.A253A	WDPCP_ENST00000409199.1_Silent_p.A61A|WDPCP_ENST00000398544.3_Silent_p.A94A|WDPCP_ENST00000409120.1_Silent_p.A61A|WDPCP_ENST00000409835.1_5'UTR|WDPCP_ENST00000409562.3_Silent_p.A253A	NM_015910.5	NP_056994.3	O95876	FRITZ_HUMAN	WD repeat containing planar cell polarity effector	253					auditory receptor cell morphogenesis (GO:0002093)|camera-type eye development (GO:0043010)|cardiovascular system development (GO:0072358)|cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|digestive system development (GO:0055123)|embryonic digit morphogenesis (GO:0042733)|establishment of protein localization (GO:0045184)|glomerular visceral epithelial cell migration (GO:0090521)|kidney development (GO:0001822)|palate development (GO:0060021)|regulation of embryonic cell shape (GO:0016476)|regulation of establishment of cell polarity (GO:2000114)|regulation of fibroblast migration (GO:0010762)|regulation of focal adhesion assembly (GO:0051893)|regulation of protein localization (GO:0032880)|regulation of ruffle assembly (GO:1900027)|respiratory system development (GO:0060541)|septin cytoskeleton organization (GO:0032185)|smoothened signaling pathway (GO:0007224)	axonemal basal plate (GO:0097541)|axoneme (GO:0005930)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(19)|ovary(1)|skin(1)	35						AAGAAATGGGGGCCCAAGGCC	0.423																																						ENST00000409120.1																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(19)|ovary(1)|skin(1)	35						c.(181-183)gcC>gcA		WD repeat containing planar cell polarity effector							67	66	66					2																	63660945		1890	4114	6004	SO:0001819	synonymous_variant	51057				cilium morphogenesis|regulation of embryonic cell shape|regulation of protein localization|septin cytoskeleton organization	cilium axoneme|cytoplasm|cytoskeleton|plasma membrane		g.chr2:63660945G>T		CCDS42688.1, CCDS46301.1	2p15	2014-04-24	2011-02-01	2011-02-01	ENSG00000143951	ENSG00000143951			28027	protein-coding gene	gene with protein product		613580	"chromosome 2 open reading frame 86"	C2orf86		15654087, 20671153	Standard	NM_015910		Approved	hFrtz, fritz, BBS15	uc002sch.3	O95876	OTTHUMG00000152566	ENST00000272321.7:c.759C>A	2.37:g.63660945G>T						WDPCP_ENST00000409562.3_Silent_p.A253A|WDPCP_ENST00000409835.1_5'UTR|WDPCP_ENST00000409199.1_Silent_p.A61A|WDPCP_ENST00000398544.3_Silent_p.A94A|WDPCP_ENST00000272321.7_Silent_p.A253A	p.A61A			O95876	FRITZ_HUMAN			3	3733	-			253					Q53RW4|Q7Z2Z3	Silent	SNP	ENST00000272321.7	37	c.183C>A	CCDS42688.1																																																																																				0.423	WDPCP-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326820.1	NM_015910		17	33	1	0	5.3912e-06	1	5.54096e-06	17	33					T	63660945	G	T	63660945	2	4	9	1	0	0	0	0	0	0	0	1	2201	1219	43	5		5	C2orf86	2	63660945	Silent	SNP	G	TCGA-2A-AAYO-01A-11D-A41K-08		63660945	179538428	5	296											
TTN	7273	broad.mit.edu	37	chr2	179425802	179425802	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	catcataactcttggaggctCaacatcatctttaactataa	14	13	4	10	0	5	0	3	0	2	0	5	1	5	1	0	2	3	1	0	2	5	6			TCGA-2A-AAYO-01A-11D-A41K-08	TCGA-2A-AAYO-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f519e32d-0ee8-4f58-975c-3d717fb4e774	441ada11-8a1f-40e6-8c6e-6ba3b7c22b4b	g.chr2:179425802C>T	ENST00000591111.1	-	276	80358	c.80134G>A	c.(80134-80136)Gag>Aag	p.E26712K	TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E19413K|TTN_ENST00000460472.2_Missense_Mutation_p.E19288K|TTN_ENST00000589042.1_Missense_Mutation_p.E28353K|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E25785K|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E19480K			Q8WZ42	TITIN_HUMAN	titin	26712					adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTTGGAGGCTCAACATCATCT	0.443																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(85057-85059)Gag>Aag		titin							142	139	140					2																	179425802		1918	4120	6038	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179425802C>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.80134G>A	2.37:g.179425802C>T	ENSP00000465570:p.Glu26712Lys					TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.E26712K|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E19288K|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E19413K|TTN_ENST00000342992.6_Missense_Mutation_p.E25785K|TTN_ENST00000342175.6_Missense_Mutation_p.E19480K|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000586707.1_RNA	p.E28353K	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		326	85281	-			26712			Fibronectin type-III 106.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.85057G>A		.	.	.	.	.	.	.	.	.	.	C	17.15	3.316770	0.60524	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.55052	0.54;0.54;0.54;0.54	5.97	5.97	0.96955	Fibronectin, type III (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);	.	.	.	.	T	0.50137	0.1598	L	0.50333	1.59	0.58432	D	0.999999	P;P;P;P	0.43094	0.799;0.799;0.799;0.799	B;B;B;B	0.35931	0.214;0.214;0.214;0.214	T	0.56757	-0.7926	9	0.87932	D	0	.	20.4388	0.99107	0.0:1.0:0.0:0.0	.	19288;19413;19480;26712	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	K	25785;19288;19480;19413;19286	ENSP00000343764:E25785K;ENSP00000434586:E19288K;ENSP00000340554:E19480K;ENSP00000352154:E19413K	ENSP00000340554:E19480K	E	-	1	0	TTN	179134048	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.818000	0.86416	2.836000	0.97738	0.655000	0.94253	GAG		0.443	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		48	90	0	0	0	1	0	48	90					T	179425802	C	T	179425802	3	4	9	1	0	0	0	0	1	0	0	0	16732	835	29	3	23070	3	TTN	2	179425802	Missense_Mutation	SNP	C	TCGA-2A-AAYO-01A-11D-A41K-08	115764857	179425802	63773571	6	297											
MGLL	11343	broad.mit.edu	37	chr3	127500647	127500647	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctcaccatggtcgtgggcgaAcaccagcaggtccagcccca	9	5	11	16	2	1	0	1	0	0	0	3	1	2	0	5	3	3	1	5	3	1	0	rs371613630		TCGA-2A-AAYO-01A-11D-A41K-08	TCGA-2A-AAYO-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f519e32d-0ee8-4f58-975c-3d717fb4e774	441ada11-8a1f-40e6-8c6e-6ba3b7c22b4b	g.chr3:127500647A>G	ENST00000434178.2	-	3	1113	c.217T>C	c.(217-219)Ttc>Ctc	p.F73L	MGLL_ENST00000265052.5_Missense_Mutation_p.F83L|MGLL_ENST00000398104.1_Missense_Mutation_p.F73L|MGLL_ENST00000453507.2_Missense_Mutation_p.F83L			Q99685	MGLL_HUMAN	monoglyceride lipase	73					acylglycerol acyl-chain remodeling (GO:0036155)|acylglycerol catabolic process (GO:0046464)|arachidonic acid metabolic process (GO:0019369)|blood coagulation (GO:0007596)|fatty acid biosynthetic process (GO:0006633)|glycerophospholipid biosynthetic process (GO:0046474)|inflammatory response (GO:0006954)|lipid metabolic process (GO:0006629)|long term synaptic depression (GO:0060292)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|regulation of endocannabinoid signaling pathway (GO:2000124)|regulation of inflammatory response (GO:0050727)|regulation of sensory perception of pain (GO:0051930)|regulation of signal transduction (GO:0009966)|small molecule metabolic process (GO:0044281)|triglyceride catabolic process (GO:0019433)	endoplasmic reticulum membrane (GO:0005789)|plasma membrane (GO:0005886)|synapse (GO:0045202)	acylglycerol lipase activity (GO:0047372)|lipid binding (GO:0008289)|lysophospholipase activity (GO:0004622)|protein homodimerization activity (GO:0042803)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)	6						TCGTGGGCGAACACCAGCAGG	0.607																																						ENST00000434178.2																			0				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)	6						c.(217-219)Ttc>Ctc		monoglyceride lipase		A	LEU/PHE,LEU/PHE	0,4246		0,0,2123	58	65	63		217,247	5.2	0.9	3		63	1,8447		0,1,4223	no	missense,missense	MGLL	NM_001003794.1,NM_007283.5	22,22	0,1,6346	GG,GA,AA		0.0118,0.0,0.0079	probably-damaging,probably-damaging	73/304,83/314	127500647	1,12693	2123	4224	6347	SO:0001583	missense	11343				arachidonic acid metabolic process|fatty acid biosynthetic process|inflammatory response|platelet activation|regulation of endocannabinoid signaling pathway|regulation of inflammatory response|regulation of sensory perception of pain|triglyceride catabolic process	plasma membrane	acylglycerol lipase activity|carboxylesterase activity|lysophospholipase activity|protein homodimerization activity	g.chr3:127500647A>G	BC000551	CCDS43148.1, CCDS46902.1, CCDS58852.1	3p13-q13.33	2014-03-14			ENSG00000074416	ENSG00000074416	3.1.1.23		17038	protein-coding gene	gene with protein product		609699				9495531	Standard	NM_007283		Approved	HU-K5, MGL	uc003ejx.4	Q99685	OTTHUMG00000159641	ENST00000434178.2:c.217T>C	3.37:g.127500647A>G	ENSP00000402798:p.Phe73Leu					MGLL_ENST00000453507.2_Missense_Mutation_p.F83L|MGLL_ENST00000398104.1_Missense_Mutation_p.F73L|MGLL_ENST00000265052.5_Missense_Mutation_p.F83L	p.F73L			Q99685	MGLL_HUMAN			3	1113	-			73					B3KRC2|B7Z9D1|Q6IBG9|Q96AA5	Missense_Mutation	SNP	ENST00000434178.2	37	c.217T>C	CCDS43148.1	.	.	.	.	.	.	.	.	.	.	A	22.3	4.274035	0.80580	0.0	1.18E-4	ENSG00000074416	ENST00000434178;ENST00000265052;ENST00000398104;ENST00000536024;ENST00000453507;ENST00000493611;ENST00000494830	T;T;T;T;T	0.62498	0.02;0.02;0.02;0.02;1.12	5.19	5.19	0.71726	Alpha/beta hydrolase fold-1 (1);	0.000000	0.85682	D	0.000000	T	0.70465	0.3227	L	0.47078	1.49	0.58432	D	0.999999	D;D;D;D	0.69078	0.98;0.995;0.996;0.997	P;D;D;D	0.67900	0.901;0.954;0.954;0.954	T	0.71790	-0.4486	10	0.52906	T	0.07	-4.9828	11.4455	0.50120	1.0:0.0:0.0:0.0	.	83;73;73;83	B7Z9D1;B2ZGL7;Q99685;B3KRC2	.;.;MGLL_HUMAN;.	L	73;83;73;83;83;10;73	ENSP00000402798:F73L;ENSP00000265052:F83L;ENSP00000381176:F73L;ENSP00000417689:F10L;ENSP00000417489:F73L	ENSP00000265052:F83L	F	-	1	0	MGLL	128983337	1.000000	0.71417	0.921000	0.36526	0.412000	0.31113	7.501000	0.81600	1.953000	0.56701	0.383000	0.25322	TTC		0.607	MGLL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356637.2	NM_007283		11	37	0	0	0	1	0	11	37					G	127500647	A	G	127500647	3	3	9	1	0	0	0	0	1	0	0	0	9556	43	2	4	718	4	MGLL	3	127500647	Missense_Mutation	SNP	A	TCGA-2A-AAYO-01A-11D-A41K-08		127500647	70521783	7	298											
PLXND1	23129	broad.mit.edu	37	chr3	129279278	129279278	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agctcgtccgtaggcagcacCtgggaggccgggcagtggtc	6	6	17	12	3	0	0	0	0	0	0	3	1	1	1	3	5	2	5	3	5	1	1			TCGA-2A-AAYO-01A-11D-A41K-08	TCGA-2A-AAYO-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f519e32d-0ee8-4f58-975c-3d717fb4e774	441ada11-8a1f-40e6-8c6e-6ba3b7c22b4b	g.chr3:129279278C>T	ENST00000324093.4	-	31	5207		c.e31-1		PLXND1_ENST00000393239.1_Splice_Site	NM_015103.2	NP_055918	Q9Y4D7	PLXD1_HUMAN	plexin D1						angiogenesis (GO:0001525)|axon guidance (GO:0007411)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|endothelial cell migration (GO:0043542)|outflow tract morphogenesis (GO:0003151)|patterning of blood vessels (GO:0001569)|positive regulation of protein binding (GO:0032092)|regulation of angiogenesis (GO:0045765)|regulation of cell migration (GO:0030334)|semaphorin-plexin signaling pathway (GO:0071526)|synapse assembly (GO:0007416)	integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)	protein domain specific binding (GO:0019904)|semaphorin receptor activity (GO:0017154)		PLXND1/TMCC1(4)	NS(1)|breast(1)|endometrium(4)|kidney(5)|large_intestine(17)|lung(28)|prostate(10)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	72						TAGGCAGCACCTGGGAGGCCG	0.652																																					Ovarian(97;366 1484 3738 22084 39045)	ENST00000393239.1																		PLXND1/TMCC1(4)	0				NS(1)|breast(1)|endometrium(4)|kidney(5)|large_intestine(17)|lung(28)|prostate(10)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	72						c.e31-1		plexin D1							50	43	45					3																	129279278		2203	4300	6503	SO:0001630	splice_region_variant	23129				axon guidance	integral to membrane|intracellular|plasma membrane		g.chr3:129279278C>T	AY116661	CCDS33854.1	3q21.3	2007-05-16			ENSG00000004399	ENSG00000004399		"Plexins"	9107	protein-coding gene	gene with protein product		604282				12412018	Standard	NM_015103		Approved	KIAA0620	uc003emx.2	Q9Y4D7	OTTHUMG00000159547	ENST00000324093.4:c.5029-1G>A	3.37:g.129279278C>T						PLXND1_ENST00000324093.4_Splice_Site				Q9Y4D7	PLXD1_HUMAN			31	5207	-								A7E2C6|C9JPZ6|Q6PJS9|Q8IZJ2|Q9BTQ2	Splice_Site	SNP	ENST00000324093.4	37		CCDS33854.1	.	.	.	.	.	.	.	.	.	.	C	12.26	1.884760	0.33255	.	.	ENSG00000004399	ENST00000324093;ENST00000393239;ENST00000506979	.	.	.	4.85	4.85	0.62838	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.9837	0.89150	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PLXND1	130761968	1.000000	0.71417	0.993000	0.49108	0.267000	0.26476	5.751000	0.68720	2.244000	0.73946	0.462000	0.41574	.		0.652	PLXND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356132.4	NM_015103	Intron	4	14	0	0	0	1	0	4	14					T	129279278	C	T	129279278	5	4	9	1	0	0	0	0	0	0	1	0	12127	695	24	3	773	3	PLXND1	3	129279278	Splice_Site	SNP	C	TCGA-2A-AAYO-01A-11D-A41K-08	1778631	129279278	68743152	8	299											
THBS4	7060	broad.mit.edu	37	chr5	79366954	79366954	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aataacgaccagaaagacacCgatggggatggaagaggaga	18	3	14	6	2	0	4	0	0	0	4	0	9	0	6	2	4	1	0	2	4	4	1			TCGA-2A-AAYO-01A-11D-A41K-08	TCGA-2A-AAYO-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f519e32d-0ee8-4f58-975c-3d717fb4e774	441ada11-8a1f-40e6-8c6e-6ba3b7c22b4b	g.chr5:79366954C>T	ENST00000350881.2	+	13	1861	c.1671C>T	c.(1669-1671)acC>acT	p.T557T	THBS4_ENST00000511733.1_Silent_p.T466T|CTD-2201I18.1_ENST00000503007.1_RNA|CTD-2201I18.1_ENST00000514042.1_RNA	NM_003248.4	NP_003239.2	P35443	TSP4_HUMAN	thrombospondin 4	557					behavioral response to pain (GO:0048266)|endothelial cell-cell adhesion (GO:0071603)|myoblast migration (GO:0051451)|negative regulation of angiogenesis (GO:0016525)|positive regulation of cell division (GO:0051781)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|regulation of tissue remodeling (GO:0034103)|response to endoplasmic reticulum stress (GO:0034976)|response to unfolded protein (GO:0006986)|tissue remodeling (GO:0048771)	basement membrane (GO:0005604)|endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|sarcoplasmic reticulum (GO:0016529)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)|integrin binding (GO:0005178)			breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|stomach(3)	34		Lung NSC(167;0.00328)|all_lung(232;0.00355)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;6.3e-45)|Epithelial(54;1.77e-39)|all cancers(79;3.2e-34)		AGAAAGACACCGATGGGGATG	0.418																																						ENST00000350881.2																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|stomach(3)	34						c.(1669-1671)acC>acT		thrombospondin 4							276	266	269					5																	79366954		2203	4300	6503	SO:0001819	synonymous_variant	7060				endothelial cell-cell adhesion|myoblast migration|negative regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of neutrophil chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation	basement membrane|extracellular space	calcium ion binding|heparin binding|integrin binding|structural molecule activity	g.chr5:79366954C>T		CCDS4049.1	5q13	2008-05-15			ENSG00000113296	ENSG00000113296			11788	protein-coding gene	gene with protein product		600715				7852353	Standard	NM_003248		Approved		uc021yaw.1	P35443	OTTHUMG00000108173	ENST00000350881.2:c.1671C>T	5.37:g.79366954C>T						CTD-2201I18.1_ENST00000514042.1_RNA|CTD-2201I18.1_ENST00000503007.1_RNA|THBS4_ENST00000511733.1_Silent_p.T466T	p.T557T	NM_003248.4	NP_003239.2	P35443	TSP4_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;6.3e-45)|Epithelial(54;1.77e-39)|all cancers(79;3.2e-34)	13	1861	+		Lung NSC(167;0.00328)|all_lung(232;0.00355)|Ovarian(174;0.0261)	557					B2R909|Q86TG2	Silent	SNP	ENST00000350881.2	37	c.1671C>T	CCDS4049.1																																																																																				0.418	THBS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226977.1			60	117	0	0	0	1	0	60	117					T	79366954	C	T	79366954	2	4	9	1	0	0	0	0	0	0	0	1	15853	639	23	2		2	THBS4	5	79366954	Silent	SNP	C	TCGA-2A-AAYO-01A-11D-A41K-08		79366954	101548306	9	300											
SEMA6A	57556	broad.mit.edu	37	chr5	115814379	115814379	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgtgattctgatatggcccaGcagctgtgtccactgcaatt	8	13	10	10	0	1	2	0	2	1	0	2	2	2	2	2	1	3	3	2	1	2	3			TCGA-2A-AAYO-01A-11D-A41K-08	TCGA-2A-AAYO-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f519e32d-0ee8-4f58-975c-3d717fb4e774	441ada11-8a1f-40e6-8c6e-6ba3b7c22b4b	g.chr5:115814379G>A	ENST00000343348.6	-	13	2073	c.1286C>T	c.(1285-1287)gCt>gTt	p.A429V	CTB-118N6.3_ENST00000514214.1_RNA|SEMA6A_ENST00000510263.1_Missense_Mutation_p.A429V|CTB-118N6.3_ENST00000510682.1_RNA|SEMA6A_ENST00000257414.8_Missense_Mutation_p.A429V|SEMA6A_ENST00000282394.6_5'Flank|CTB-118N6.3_ENST00000508640.1_RNA	NM_020796.3	NP_065847	Q9H2E6	SEM6A_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6A	429	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				apoptotic process (GO:0006915)|axon guidance (GO:0007411)|cell surface receptor signaling pathway (GO:0007166)|centrosome localization (GO:0051642)|cytoskeleton organization (GO:0007010)|nervous system development (GO:0007399)|neuron migration (GO:0001764)|organ morphogenesis (GO:0009887)|positive regulation of neuron migration (GO:2001224)|semaphorin-plexin signaling pathway (GO:0071526)	axon (GO:0030424)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	transmembrane signaling receptor activity (GO:0004888)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31		all_cancers(142;0.00316)|all_epithelial(76;5.71e-05)|Prostate(80;0.00845)|Ovarian(225;0.0796)|Lung NSC(810;0.171)|all_lung(232;0.203)		OV - Ovarian serous cystadenocarcinoma(64;1.59e-08)|Epithelial(69;2e-08)|all cancers(49;5.7e-08)|COAD - Colon adenocarcinoma(49;0.151)		ATATGGCCCAGCAGCTGTGTC	0.408																																						ENST00000343348.6																			0				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31						c.(1285-1287)gCt>gTt		sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6A							76	74	75					5																	115814379		1895	4114	6009	SO:0001583	missense	57556				apoptosis|axon guidance|cell surface receptor linked signaling pathway|cytoskeleton organization|organ morphogenesis	axon|integral to membrane|plasma membrane	receptor activity	g.chr5:115814379G>A	AB037789	CCDS47256.1, CCDS75288.1	5q23.1	2014-07-29			ENSG00000092421			"Semaphorins"	10738	protein-coding gene	gene with protein product	"sema VIa"	605885		SEMAQ		9204478, 10993894	Standard	XM_006714663		Approved	KIAA1368, SEMA6A1, SEMA, HT018	uc010jck.3	Q9H2E6	OTTHUMG00000162987	ENST00000343348.6:c.1286C>T	5.37:g.115814379G>A	ENSP00000345512:p.Ala429Val					SEMA6A_ENST00000257414.8_Missense_Mutation_p.A429V|SEMA6A_ENST00000510263.1_Missense_Mutation_p.A429V|CTB-118N6.3_ENST00000514214.1_RNA|CTB-118N6.3_ENST00000510682.1_RNA|CTB-118N6.3_ENST00000508640.1_RNA	p.A429V	NM_020796.3	NP_065847.1	Q9H2E6	SEM6A_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;1.59e-08)|Epithelial(69;2e-08)|all cancers(49;5.7e-08)|COAD - Colon adenocarcinoma(49;0.151)	13	2073	-		all_cancers(142;0.00316)|all_epithelial(76;5.71e-05)|Prostate(80;0.00845)|Ovarian(225;0.0796)|Lung NSC(810;0.171)|all_lung(232;0.203)	429			Sema.		Q9P2H9	Missense_Mutation	SNP	ENST00000343348.6	37	c.1286C>T	CCDS47256.1	.	.	.	.	.	.	.	.	.	.	G	36	5.719898	0.96839	.	.	ENSG00000092421	ENST00000343348;ENST00000257414;ENST00000510263	T;T;T	0.23552	1.9;1.9;1.9	6.0	6.0	0.97389	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.048356	0.85682	D	0.000000	T	0.47414	0.1444	L	0.45352	1.415	0.80722	D	1	D;D	0.89917	1.0;0.976	D;P	0.87578	0.998;0.837	T	0.31806	-0.9930	10	0.87932	D	0	.	20.1506	0.98084	0.0:0.0:1.0:0.0	.	429;429	Q9H2E6;Q9H2E6-2	SEM6A_HUMAN;.	V	429	ENSP00000345512:A429V;ENSP00000257414:A429V;ENSP00000424388:A429V	ENSP00000257414:A429V	A	-	2	0	SEMA6A	115842278	1.000000	0.71417	0.981000	0.43875	0.927000	0.56198	9.869000	0.99810	2.864000	0.98301	0.551000	0.68910	GCT		0.408	SEMA6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371270.1	NM_020796		4	34	0	0	0	1	0	4	34					A	115814379	G	A	115814379	3	1	9	1	0	0	0	0	1	0	0	0	14039	971	34	3	1834	3	SEMA6A	5	115814379	Missense_Mutation	SNP	G	TCGA-2A-AAYO-01A-11D-A41K-08	36447425	115814379	65100881	10	301											
SYNE1	23345	broad.mit.edu	37	chr6	152804276	152804276	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgtttcctcgtggacctgttGaacggttatttcctctctca	5	17	8	11	2	2	1	1	1	1	0	6	2	4	2	3	2	1	3	3	2	2	4			TCGA-2A-AAYO-01A-11D-A41K-08	TCGA-2A-AAYO-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f519e32d-0ee8-4f58-975c-3d717fb4e774	441ada11-8a1f-40e6-8c6e-6ba3b7c22b4b	g.chr6:152804276G>C	ENST00000367255.5	-	14	1895	c.1294C>G	c.(1294-1296)Caa>Gaa	p.Q432E	SYNE1_ENST00000423061.1_Missense_Mutation_p.Q439E|SYNE1_ENST00000413186.2_Missense_Mutation_p.Q432E|SYNE1_ENST00000448038.1_Missense_Mutation_p.Q439E|SYNE1_ENST00000341594.5_Missense_Mutation_p.Q432E|SYNE1_ENST00000367253.4_Missense_Mutation_p.Q432E|SYNE1_ENST00000367248.3_Missense_Mutation_p.Q422E|SYNE1_ENST00000265368.4_Missense_Mutation_p.Q432E|SYNE1_ENST00000466159.2_Missense_Mutation_p.Q432E	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	432					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TGGACCTGTTGAACGGTTATT	0.483										HNSCC(10;0.0054)																												ENST00000367255.5																			0				NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524						c.(1294-1296)Caa>Gaa		spectrin repeat containing, nuclear envelope 1							291	274	280					6																	152804276		2203	4300	6503	SO:0001583	missense	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152804276G>C	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"myocyte nuclear envelope protein 1", "nuclear envelope spectrin repeat-1"	608441	"chromosome 6 open reading frame 98"	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.1294C>G	6.37:g.152804276G>C	ENSP00000356224:p.Gln432Glu	HNSCC(10;0.0054)				SYNE1_ENST00000265368.4_Missense_Mutation_p.Q432E|SYNE1_ENST00000466159.2_Missense_Mutation_p.Q432E|SYNE1_ENST00000367248.3_Missense_Mutation_p.Q422E|SYNE1_ENST00000367253.4_Missense_Mutation_p.Q432E|SYNE1_ENST00000448038.1_Missense_Mutation_p.Q439E|SYNE1_ENST00000413186.2_Missense_Mutation_p.Q432E|SYNE1_ENST00000423061.1_Missense_Mutation_p.Q439E|SYNE1_ENST00000341594.5_Missense_Mutation_p.Q432E	p.Q432E	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	14	1895	-		Ovarian(120;0.0955)	432					E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	c.1294C>G	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	G	26.4	4.733299	0.89482	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000367253;ENST00000367248;ENST00000413186;ENST00000466159;ENST00000537750	T;T;T;T;T;D;D;D;D;D	0.90955	0.67;0.67;0.58;0.67;0.81;-2.15;-2.29;-2.28;-2.56;-2.76	5.87	5.87	0.94306	.	0.116942	0.38663	N	0.001616	D	0.93318	0.7870	M	0.74881	2.28	0.80722	D	1	D;D;P;D;D	0.65815	0.995;0.968;0.927;0.968;0.981	D;P;P;P;P	0.73380	0.98;0.749;0.726;0.749;0.872	D	0.89104	0.3491	10	0.08599	T	0.76	.	20.5827	0.99408	0.0:0.0:1.0:0.0	.	415;432;432;432;439	B3W695;Q8NF91;F5H4Q0;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.;.	E	432;439;432;439;432;432;422;432;432;415	ENSP00000356224:Q432E;ENSP00000396024:Q439E;ENSP00000265368:Q432E;ENSP00000390975:Q439E;ENSP00000341887:Q432E;ENSP00000356222:Q432E;ENSP00000356217:Q422E;ENSP00000414510:Q432E;ENSP00000446021:Q432E;ENSP00000441264:Q415E	ENSP00000265368:Q432E	Q	-	1	0	SYNE1	152845969	1.000000	0.71417	0.982000	0.44146	0.920000	0.55202	9.420000	0.97426	2.941000	0.99782	0.655000	0.94253	CAA		0.483	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		28	99	0	0	0	1	0	28	99					C	152804276	G	C	152804276	3	2	9	1	0	0	0	0	1	0	0	0	15442	1299	45	5	25704	5	SYNE1	6	152804276	Missense_Mutation	SNP	G	TCGA-2A-AAYO-01A-11D-A41K-08		152804276	18310791	11	302											
ACTR3B	57180	broad.mit.edu	37	chr7	152549245	152549245	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aggaggctccaccatgttcaGggatttcggacgccgactgc	8	8	13	12	3	1	0	1	0	0	0	3	4	2	3	3	4	1	2	3	4	0	2			TCGA-2A-AAYO-01A-11D-A41K-08	TCGA-2A-AAYO-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f519e32d-0ee8-4f58-975c-3d717fb4e774	441ada11-8a1f-40e6-8c6e-6ba3b7c22b4b	g.chr7:152549245G>A	ENST00000256001.8	+	10	1120	c.986G>A	c.(985-987)aGg>aAg	p.R329K	ACTR3B_ENST00000377776.3_Intron|ACTR3B_ENST00000397282.2_Missense_Mutation_p.R241K|ACTR3B_ENST00000537264.1_Missense_Mutation_p.R241K	NM_020445.5	NP_065178.1	Q9P1U1	ARP3B_HUMAN	ARP3 actin-related protein 3 homolog B (yeast)	329						cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)			breast(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)	13		all_hematologic(28;0.0592)|Prostate(32;0.191)	OV - Ovarian serous cystadenocarcinoma(82;0.0287)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0434)		ACCATGTTCAGGGATTTCGGA	0.592																																						ENST00000256001.8																			0				breast(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)	13						c.(985-987)aGg>aAg		ARP3 actin-related protein 3 homolog B (yeast)							123	111	115					7																	152549245		2203	4300	6503	SO:0001583	missense	57180				regulation of actin filament polymerization	cell projection|cytoplasm|cytoskeleton	actin binding|ATP binding	g.chr7:152549245G>A		CCDS5934.1, CCDS34782.1	7q36.1	2010-07-20			ENSG00000133627	ENSG00000133627			17256	protein-coding gene	gene with protein product						10806390	Standard	NM_001040135		Approved	ARP11, ARP3beta	uc003wle.2	Q9P1U1	OTTHUMG00000151463	ENST00000256001.8:c.986G>A	7.37:g.152549245G>A	ENSP00000256001:p.Arg329Lys					ACTR3B_ENST00000377776.3_Intron|ACTR3B_ENST00000537264.1_Missense_Mutation_p.R241K|ACTR3B_ENST00000397282.2_Missense_Mutation_p.R241K	p.R329K	NM_020445.5	NP_065178.1	Q9P1U1	ARP3B_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0287)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0434)	10	1120	+		all_hematologic(28;0.0592)|Prostate(32;0.191)	329					A8MTG1|B4DFW4|Q7Z526|Q96BT2	Missense_Mutation	SNP	ENST00000256001.8	37	c.986G>A	CCDS5934.1	.	.	.	.	.	.	.	.	.	.	G	8.526	0.869913	0.17322	.	.	ENSG00000133627	ENST00000256001;ENST00000397282;ENST00000537264	T;T;T	0.07327	3.2;3.2;3.2	5.03	5.03	0.67393	.	0.000000	0.64402	U	0.000007	T	0.02727	0.0082	N	0.00855	-1.145	0.44694	D	0.997684	B	0.02656	0.0	B	0.06405	0.002	T	0.37407	-0.9707	10	0.02654	T	1	-9.6202	16.9778	0.86319	0.0:0.0:1.0:0.0	.	329	Q9P1U1	ARP3B_HUMAN	K	329;241;241	ENSP00000256001:R329K;ENSP00000380452:R241K;ENSP00000446157:R241K	ENSP00000256001:R329K	R	+	2	0	ACTR3B	152180178	1.000000	0.71417	1.000000	0.80357	0.476000	0.33039	9.169000	0.94788	2.322000	0.78497	0.557000	0.71058	AGG		0.592	ACTR3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322803.1	NM_020445		22	48	0	0	0	1	0	22	48					A	152549245	G	A	152549245	3	1	9	1	0	0	0	0	1	0	0	0	213	1000	35	3	1024	3	ACTR3B	7	152549245	Missense_Mutation	SNP	G	TCGA-2A-AAYO-01A-11D-A41K-08		152549245	6589418	12	303											
RP1	6101	broad.mit.edu	37	chr8	55541954	55541954	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atgaggacttgctggatgttCgcaatgaaacctgtgccaag	11	10	12	8	1	0	2	0	2	0	0	1	4	0	4	2	2	3	3	2	2	3	2			TCGA-2A-AAYO-01A-11D-A41K-08	TCGA-2A-AAYO-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f519e32d-0ee8-4f58-975c-3d717fb4e774	441ada11-8a1f-40e6-8c6e-6ba3b7c22b4b	g.chr8:55541954C>T	ENST00000220676.1	+	4	5660	c.5512C>T	c.(5512-5514)Cgc>Tgc	p.R1838C		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	1838					axoneme assembly (GO:0035082)|cellular response to light stimulus (GO:0071482)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|photoreceptor cell outer segment organization (GO:0035845)|phototransduction, visible light (GO:0007603)|retinal cone cell development (GO:0046549)|retinal rod cell development (GO:0046548)|visual perception (GO:0007601)	axoneme (GO:0005930)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)	microtubule binding (GO:0008017)			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			GCTGGATGTTCGCAATGAAAC	0.423																																					Colon(91;1014 1389 7634 14542 40420)	ENST00000220676.1																			0				NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169						c.(5512-5514)Cgc>Tgc		retinitis pigmentosa 1 (autosomal dominant)							94	87	89					8																	55541954		2203	4300	6503	SO:0001583	missense	6101				axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding	g.chr8:55541954C>T	AF146592	CCDS6160.1	8q12.1	2013-01-08				ENSG00000104237			10263	protein-coding gene	gene with protein product		603937				1783394	Standard	NM_006269		Approved	DCDC4A	uc003xsd.1	P56715		ENST00000220676.1:c.5512C>T	8.37:g.55541954C>T	ENSP00000220676:p.Arg1838Cys						p.R1838C	NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)		4	5660	+		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	1838						Missense_Mutation	SNP	ENST00000220676.1	37	c.5512C>T	CCDS6160.1	.	.	.	.	.	.	.	.	.	.	C	7.000	0.554598	0.13436	.	.	ENSG00000104237	ENST00000220676	T	0.44881	0.91	5.83	3.01	0.34805	.	0.506639	0.16231	N	0.223614	T	0.28830	0.0715	L	0.29908	0.895	0.09310	N	1	P	0.34934	0.476	B	0.30646	0.118	T	0.12116	-1.0560	10	0.87932	D	0	.	9.3662	0.38226	0.4305:0.5015:0.0:0.0679	.	1838	P56715	RP1_HUMAN	C	1838	ENSP00000220676:R1838C	ENSP00000220676:R1838C	R	+	1	0	RP1	55704507	0.000000	0.05858	0.010000	0.14722	0.001000	0.01503	0.052000	0.14163	0.354000	0.24105	-0.890000	0.02929	CGC		0.423	RP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378532.2	NM_006269		17	25	0	0	0	1	0	17	25					T	55541954	C	T	55541954	3	4	9	1	0	0	0	0	1	0	0	0	13532	884	31	2	5522	2	RP1	8	55541954	Missense_Mutation	SNP	C	TCGA-2A-AAYO-01A-11D-A41K-08		55541954	90822068	13	304											
OMP	4975	broad.mit.edu	37	chr11	76814332	76814351	+	Frame_Shift_Del	DEL	GGAGCCCGCCAACCTCAAGG	GGAGCCCGCCAACCTCAAGG	-																															gtcacctttggcgagggtgtGgagcccgccaacctcaaggc																								rs574557269|rs373329512		TCGA-2A-AAYO-01A-11D-A41K-08	TCGA-2A-AAYO-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f519e32d-0ee8-4f58-975c-3d717fb4e774	441ada11-8a1f-40e6-8c6e-6ba3b7c22b4b	g.chr11:76814332_76814351delGGAGCCCGCCAACCTCAAGG	ENST00000529803.1	+	1	447_466	c.447_466delGGAGCCCGCCAACCTCAAGG	c.(445-468)gtggagcccgccaacctcaaggccfs	p.EPANLKA150fs	CAPN5_ENST00000531028.1_Intron|CAPN5_ENST00000529629.1_Intron|CAPN5_ENST00000278559.3_Intron|CAPN5_ENST00000456580.2_Intron	NM_006189.1	NP_006180.1	P47874	OMP_HUMAN	olfactory marker protein	150					neurogenesis (GO:0022008)|sensory perception of smell (GO:0007608)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	axon (GO:0030424)|cytoplasm (GO:0005737)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	signal transducer activity (GO:0004871)			endometrium(1)|kidney(1)|large_intestine(2)|lung(1)	5						GCGAGGGTGTGGAGCCCGCCAACCTCAAGGCCTCCGTGGT	0.614																																						ENST00000529803.1																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(1)	5						c.(445-468)gtccfs		olfactory marker protein																																				SO:0001589	frameshift_variant	4975				sensory perception of smell|synaptic transmission			g.chr11:76814332_76814351delGGAGCCCGCCAACCTCAAGG	U01212	CCDS53682.1	11q14-q21	2008-07-21				ENSG00000254550			8136	protein-coding gene	gene with protein product		164340				8499899	Standard	NM_006189		Approved		uc010rsk.2	P47874		ENST00000529803.1:c.447_466delGGAGCCCGCCAACCTCAAGG	11.37:g.76814332_76814351delGGAGCCCGCCAACCTCAAGG	ENSP00000436376:p.Glu150fs					CAPN5_ENST00000456580.2_Intron|CAPN5_ENST00000529629.1_Intron|CAPN5_ENST00000278559.3_Intron|CAPN5_ENST00000531028.1_Intron	p.VEPANLKA149fs	NM_006189.1	NP_006180.1	P47874	OMP_HUMAN			1	447_466	+			149					Q562G2	Frame_Shift_Del	DEL	ENST00000529803.1	37	c.447_466delGGAGCCCGCCAACCTCAAGG	CCDS53682.1																																																																																				0.614	OMP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382570.1	NM_006189		12	58						12	58	---	---	---	---	-	76814351	GGAGCCCGCCAACCTCAAGG	-	76814332	7	5	9	1	0	1	0	1	0	0	0	0	10867	1335	47	0	449	0	OMP	11	76814332	Frame_Shift_Del	DEL	GGAGCCCGCCAACCTCAAGG	TCGA-2A-AAYO-01A-11D-A41K-08		76814332	58192184	14	305											
OR6X1	390260	broad.mit.edu	37	chr11	123624320	123624320	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	accagtctttgggcaagtcaTtgcctttcttaaggctccct	7	14	8	12	0	3	0	1	0	2	0	4	0	4	0	3	2	1	2	3	2	2	4			TCGA-2A-AAYO-01A-11D-A41K-08	TCGA-2A-AAYO-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f519e32d-0ee8-4f58-975c-3d717fb4e774	441ada11-8a1f-40e6-8c6e-6ba3b7c22b4b	g.chr11:123624320T>C	ENST00000327930.2	-	1	933	c.907A>G	c.(907-909)Atg>Gtg	p.M303V		NM_001005188.1	NP_001005188.1	Q8NH79	OR6X1_HUMAN	olfactory receptor, family 6, subfamily X, member 1	303						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(3)|endometrium(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)	23		Breast(109;0.0109)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		GGGCAAGTCATTGCCTTTCTT	0.398																																						ENST00000327930.2																			0				breast(3)|endometrium(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)	23						c.(907-909)Atg>Gtg		olfactory receptor, family 6, subfamily X, member 1							133	143	139					11																	123624320		2202	4299	6501	SO:0001583	missense	390260				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:123624320T>C	AB065510	CCDS31695.1	11q24.1	2012-08-09			ENSG00000221931	ENSG00000221931		"GPCR / Class A : Olfactory receptors"	14737	protein-coding gene	gene with protein product							Standard	NM_001005188		Approved		uc010rzy.2	Q8NH79	OTTHUMG00000166011	ENST00000327930.2:c.907A>G	11.37:g.123624320T>C	ENSP00000333724:p.Met303Val						p.M303V	NM_001005188.1	NP_001005188.1	Q8NH79	OR6X1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)	1	933	-		Breast(109;0.0109)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)	303					B9EGW9|Q6IFA0	Missense_Mutation	SNP	ENST00000327930.2	37	c.907A>G	CCDS31695.1	.	.	.	.	.	.	.	.	.	.	T	0.005	-2.170196	0.00315	.	.	ENSG00000221931	ENST00000327930	T	0.36157	1.27	3.82	2.69	0.31865	.	.	.	.	.	T	0.15349	0.0370	N	0.11023	0.085	0.21878	N	0.999493	B	0.02656	0.0	B	0.01281	0.0	T	0.31752	-0.9932	9	0.02654	T	1	-0.2177	7.0749	0.25199	0.0:0.1116:0.0:0.8884	.	303	Q8NH79	OR6X1_HUMAN	V	303	ENSP00000333724:M303V	ENSP00000333724:M303V	M	-	1	0	OR6X1	123129530	0.353000	0.24904	0.220000	0.23810	0.557000	0.35523	0.903000	0.28475	0.558000	0.29135	0.528000	0.53228	ATG		0.398	OR6X1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387436.1	NM_001005188		55	126	0	0	0	1	0	55	126					C	123624320	T	C	123624320	3	2	9	1	0	0	0	0	1	0	0	0	11212	1493	52	4	33	4	OR6X1	11	123624320	Missense_Mutation	SNP	T	TCGA-2A-AAYO-01A-11D-A41K-08	46809988	123624320	11382196	15	306											
REM2	161253	broad.mit.edu	37	chr14	23354496	23354496	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggatacctatgagagacgcaTcatggtggataaggaggaag	14	7	15	5	1	1	2	1	1	0	1	1	7	1	6	1	5	1	1	1	5	4	3			TCGA-2A-AAYO-01A-11D-A41K-08	TCGA-2A-AAYO-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f519e32d-0ee8-4f58-975c-3d717fb4e774	441ada11-8a1f-40e6-8c6e-6ba3b7c22b4b	g.chr14:23354496T>C	ENST00000267396.4	+	3	590	c.467T>C	c.(466-468)aTc>aCc	p.I156T	REM2_ENST00000536884.1_Intron	NM_173527.2	NP_775798.2	Q8IYK8	REM2_HUMAN	RAS (RAD and GEM)-like GTP binding 2	156					small GTPase mediated signal transduction (GO:0007264)	plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			breast(1)|central_nervous_system(1)|large_intestine(2)|ovary(1)	5	all_cancers(95;4.69e-05)			GBM - Glioblastoma multiforme(265;0.012)		GAGAGACGCATCATGGTGGAT	0.488																																						ENST00000267396.4																			0				breast(1)|central_nervous_system(1)|large_intestine(2)|ovary(1)	5						c.(466-468)aTc>aCc		RAS (RAD and GEM)-like GTP binding 2							145	132	136					14																	23354496		1958	4154	6112	SO:0001583	missense	161253				regulation of transcription, DNA-dependent|small GTPase mediated signal transduction	intracellular|plasma membrane	ATP binding|GTP binding|transcription factor binding	g.chr14:23354496T>C		CCDS45082.1	14q11.2	2014-05-09	2006-12-14		ENSG00000139890	ENSG00000139890			20248	protein-coding gene	gene with protein product			"RAS (RAD and GEM) like GTP binding 2"			10727423	Standard	NM_173527		Approved	FLJ38964	uc001whf.1	Q8IYK8	OTTHUMG00000170277	ENST00000267396.4:c.467T>C	14.37:g.23354496T>C	ENSP00000267396:p.Ile156Thr					REM2_ENST00000536884.1_Intron	p.I156T	NM_173527.2	NP_775798.2	Q8IYK8	REM2_HUMAN		GBM - Glioblastoma multiforme(265;0.012)	3	590	+	all_cancers(95;4.69e-05)		156					B7Z5P1|Q8N8R8	Missense_Mutation	SNP	ENST00000267396.4	37	c.467T>C	CCDS45082.1	.	.	.	.	.	.	.	.	.	.	T	18.21	3.573769	0.65765	.	.	ENSG00000139890	ENST00000267396	D	0.81659	-1.52	5.26	5.26	0.73747	.	0.252517	0.38058	N	0.001827	T	0.77948	0.4207	L	0.52759	1.655	0.80722	D	1	P	0.45126	0.851	B	0.42593	0.392	T	0.80279	-0.1449	10	0.54805	T	0.06	.	14.457	0.67423	0.0:0.0:0.0:1.0	.	156	Q8IYK8	REM2_HUMAN	T	156	ENSP00000267396:I156T	ENSP00000267396:I156T	I	+	2	0	REM2	22424336	0.931000	0.31567	1.000000	0.80357	0.987000	0.75469	5.958000	0.70330	2.112000	0.64535	0.533000	0.62120	ATC		0.488	REM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408290.1	NM_173527		12	62	0	0	0	1	0	12	62					C	23354496	T	C	23354496	3	2	9	1	0	0	0	0	1	0	0	0	13223	1435	50	4	477	4	REM2	14	23354496	Missense_Mutation	SNP	T	TCGA-2A-AAYO-01A-11D-A41K-08		23354496	83995044	16	307											
SPTB	6710	broad.mit.edu	37	chr14	65239641	65239641	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcccaatcgccccggtctccCgggcaaagtcccggaacttg	7	6	11	17	4	1	0	0	0	1	0	4	1	2	1	5	3	1	1	5	3	3	1	rs561976171		TCGA-2A-AAYO-01A-11D-A41K-08	TCGA-2A-AAYO-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f519e32d-0ee8-4f58-975c-3d717fb4e774	441ada11-8a1f-40e6-8c6e-6ba3b7c22b4b	g.chr14:65239641C>T	ENST00000389721.5	-	25	5242	c.5210G>A	c.(5209-5211)cGg>cAg	p.R1737Q	SPTB_ENST00000556626.1_Missense_Mutation_p.R1737Q|SPTB_ENST00000542895.1_Missense_Mutation_p.R1737Q|SPTB_ENST00000389720.3_Missense_Mutation_p.R1737Q|SPTB_ENST00000389722.3_Missense_Mutation_p.R1737Q	NM_000347.5	NP_000338.3	P11277	SPTB1_HUMAN	spectrin, beta, erythrocytic	1737					actin filament capping (GO:0051693)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)	actin cytoskeleton (GO:0015629)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|protein complex (GO:0043234)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ankyrin binding (GO:0030506)|structural constituent of cytoskeleton (GO:0005200)			breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		CCCGGTCTCCCGGGCAAAGTC	0.627													C|||	1	0.000199681	0	0	5008	,	,		18643	0.001		0	False		,,,				2504	0					ENST00000389722.3																			0				breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106						c.(5209-5211)cGg>cAg		spectrin, beta, erythrocytic							21	23	22					14																	65239641		2202	4299	6501	SO:0001583	missense	6710				actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton	g.chr14:65239641C>T		CCDS32099.1, CCDS32100.1	14q24.1-q24.2	2013-01-10	2008-07-29			ENSG00000070182		"Pleckstrin homology (PH) domain containing"	11274	protein-coding gene	gene with protein product	"spherocytosis, clinical type I"	182870				2209094	Standard	NM_001024858		Approved		uc001xhr.3	P11277		ENST00000389721.5:c.5210G>A	14.37:g.65239641C>T	ENSP00000374371:p.Arg1737Gln					SPTB_ENST00000556626.1_Missense_Mutation_p.R1737Q|SPTB_ENST00000542895.1_Missense_Mutation_p.R1737Q|SPTB_ENST00000389720.3_Missense_Mutation_p.R1737Q|SPTB_ENST00000389721.5_Missense_Mutation_p.R1737Q	p.R1737Q	NM_001024858.2	NP_001020029.1	P11277	SPTB1_HUMAN		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)	25	5263	-		all_lung(585;4.15e-09)	1737					Q15510|Q15519	Missense_Mutation	SNP	ENST00000389721.5	37	c.5210G>A	CCDS32100.1	.	.	.	.	.	.	.	.	.	.	C	26.0	4.698999	0.88830	.	.	ENSG00000070182	ENST00000389723;ENST00000389722;ENST00000335612;ENST00000553938;ENST00000556626;ENST00000389721;ENST00000542895;ENST00000389720	T;T;T;T;T;T	0.50548	0.74;0.74;0.74;0.74;0.74;0.74	5.21	5.21	0.72293	.	0.000000	0.85682	D	0.000000	T	0.58366	0.2117	L	0.58354	1.805	0.80722	D	1	P;D;P	0.60575	0.787;0.988;0.941	B;P;B	0.52710	0.343;0.707;0.365	T	0.61377	-0.7075	10	0.59425	D	0.04	.	17.8889	0.88865	0.0:1.0:0.0:0.0	.	521;1737;1741	E7EV95;P11277;Q59FP5	.;SPTB1_HUMAN;.	Q	1741;1737;521;402;1737;1737;1737;1737	ENSP00000374372:R1737Q;ENSP00000451324:R402Q;ENSP00000451752:R1737Q;ENSP00000374371:R1737Q;ENSP00000443882:R1737Q;ENSP00000374370:R1737Q	ENSP00000334218:R521Q	R	-	2	0	SPTB	64309394	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	4.941000	0.63540	2.595000	0.87683	0.561000	0.74099	CGG		0.627	SPTB-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000414080.1			11	12	0	0	0	1	0	11	12					T	65239641	C	T	65239641	3	4	9	1	0	0	0	0	1	0	0	0	15117	652	23	2	1889	2	SPTB	14	65239641	Missense_Mutation	SNP	C	TCGA-2A-AAYO-01A-11D-A41K-08	41885145	65239641	42109899	17	308											
TAOK2	9344	broad.mit.edu	37	chr16	29999004	29999004	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gggccccggcggcgtaatccCcgcaccacccaacacccatt	8	4	9	20	4	0	0	0	0	0	0	1	0	1	0	7	3	1	2	7	3	2	2			TCGA-2A-AAYO-01A-11D-A41K-08	TCGA-2A-AAYO-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f519e32d-0ee8-4f58-975c-3d717fb4e774	441ada11-8a1f-40e6-8c6e-6ba3b7c22b4b	g.chr16:29999004C>T	ENST00000308893.4	+	16	4454	c.3411C>T	c.(3409-3411)ccC>ccT	p.P1137P	TAOK2_ENST00000543033.1_Silent_p.P1024P|TAOK2_ENST00000279394.3_Intron|TAOK2_ENST00000416441.2_Silent_p.P964P	NM_001252043.1|NM_016151.3	NP_001238972.1|NP_057235.2	Q9UL54	TAOK2_HUMAN	TAO kinase 2	1137					actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|apoptotic process (GO:0006915)|cell migration (GO:0016477)|cellular response to DNA damage stimulus (GO:0006974)|focal adhesion assembly (GO:0048041)|G2 DNA damage checkpoint (GO:0031572)|positive regulation of JNK cascade (GO:0046330)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein targeting to membrane (GO:0006612)|regulation of cell growth (GO:0001558)|regulation of cell shape (GO:0008360)|response to stress (GO:0006950)|stress-activated MAPK cascade (GO:0051403)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|nucleolus (GO:0005730)|nucleus (GO:0005634)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|mitogen-activated protein kinase kinase binding (GO:0031434)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1)	22						GGCGTAATCCCCGCACCACCC	0.657																																						ENST00000308893.4																			0				breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1)	22						c.(3409-3411)ccC>ccT		TAO kinase 2							61	64	63					16																	29999004		2197	4300	6497	SO:0001819	synonymous_variant	9344				actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress	cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus	ATP binding|protein serine/threonine kinase activity	g.chr16:29999004C>T	AB020688	CCDS10662.1, CCDS10663.1, CCDS58448.1	16p11.2	2008-02-05			ENSG00000149930	ENSG00000149930			16835	protein-coding gene	gene with protein product		613199				10048485, 9786855	Standard	NM_016151		Approved	TAO1, KIAA0881, PSK, PSK1, TAO2, MAP3K17	uc002dva.2	Q9UL54	OTTHUMG00000132111	ENST00000308893.4:c.3411C>T	16.37:g.29999004C>T						TAOK2_ENST00000279394.3_Intron|TAOK2_ENST00000543033.1_Silent_p.P1024P|TAOK2_ENST00000416441.2_Silent_p.P964P	p.P1137P	NM_001252043.1|NM_016151.3	NP_001238972.1|NP_057235.2	Q9UL54	TAOK2_HUMAN			16	4454	+			1137					A5PKY1|A7MCZ2|B2RN35|B7ZM88|O94957|Q6UW73|Q7LC09|Q9NSW2	Silent	SNP	ENST00000308893.4	37	c.3411C>T	CCDS10663.1																																																																																				0.657	TAOK2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000255152.2	NM_016151		4	169	0	0	0	1	0	4	169					T	29999004	C	T	29999004	2	4	9	1	0	0	0	0	0	0	0	1	15545	610	22	3		3	TAOK2	16	29999004	Silent	SNP	C	TCGA-2A-AAYO-01A-11D-A41K-08		29999004	60355749	18	309											
ITGAD	3681	broad.mit.edu	37	chr16	31434512	31434512	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaggctgagcatcgataccGtgtgagagtctagggagtat	11	9	15	6	2	1	3	0	2	1	2	2	6	1	4	1	2	2	3	1	2	3	3			TCGA-2A-AAYO-01A-11D-A41K-08	TCGA-2A-AAYO-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f519e32d-0ee8-4f58-975c-3d717fb4e774	441ada11-8a1f-40e6-8c6e-6ba3b7c22b4b	g.chr16:31434512G>A	ENST00000389202.2	+	24	2907	c.2858G>A	c.(2857-2859)cGt>cAt	p.R953H		NM_005353.2	NP_005344.2	Q13349	ITAD_HUMAN	integrin, alpha D	953					activated T cell proliferation (GO:0050798)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|immune response (GO:0006955)|integrin-mediated signaling pathway (GO:0007229)	cell surface (GO:0009986)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						CATCGATACCGTGTGAGAGTC	0.512																																						ENST00000389202.2																			0				breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						c.e24+1		integrin, alpha D							74	64	67					16																	31434512		2197	4300	6497	SO:0001630	splice_region_variant	3681				cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway	integrin complex	receptor activity	g.chr16:31434512G>A	U40274	CCDS32438.1	16p13.1-p11	2010-03-23				ENSG00000156886		"CD molecules", "Integrins"	6146	protein-coding gene	gene with protein product		602453				8666289, 9598326	Standard	NM_005353		Approved	CD11d, ADB2	uc002ebv.1	Q13349		ENST00000389202.2:c.2859+1G>A	16.37:g.31434512G>A							p.R953_splice	NM_005353.2	NP_005344.2	Q13349	ITAD_HUMAN			24	2907	+			953					Q15575|Q15576	Splice_Site	SNP	ENST00000389202.2	37	c.2859_splice	CCDS32438.1	.	.	.	.	.	.	.	.	.	.	G	12.99	2.102434	0.37145	.	.	ENSG00000156886	ENST00000444228;ENST00000389202	T	0.50001	0.76	5.59	-2.68	0.06041	Integrin alpha-2 (1);	.	.	.	.	T	0.31670	0.0804	L	0.35487	1.065	0.09310	N	1	B;B	0.24533	0.105;0.105	B;B	0.21546	0.035;0.035	T	0.31641	-0.9936	9	0.59425	D	0.04	.	6.1642	0.20380	0.5311:0.1384:0.3305:0.0	.	969;953	Q59H14;Q13349	.;ITAD_HUMAN	H	969;953	ENSP00000373854:R953H	ENSP00000373854:R953H	R	+	2	0	ITGAD	31342013	0.000000	0.05858	0.000000	0.03702	0.212000	0.24457	-1.405000	0.02492	-0.224000	0.09928	-0.143000	0.13931	CGT		0.512	ITGAD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432836.1	NM_005353	Missense_Mutation	13	26	0	0	0	1	0	13	26					A	31434512	G	A	31434512	5	1	9	1	0	0	0	0	0	0	1	0	7884	1159	40	1	2952	1	ITGAD	16	31434512	Splice_Site	SNP	G	TCGA-2A-AAYO-01A-11D-A41K-08	1435508	31434512	58920241	19	310											
ZC3H18	124245	broad.mit.edu	37	chr16	88691151	88691151	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ccagccaggaccccccccagGaggtgagcactccggcgtcc	7	3	12	19	2	0	1	0	1	0	0	2	3	2	3	8	4	2	1	8	4	0	0			TCGA-2A-AAYO-01A-11D-A41K-08	TCGA-2A-AAYO-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f519e32d-0ee8-4f58-975c-3d717fb4e774	441ada11-8a1f-40e6-8c6e-6ba3b7c22b4b	g.chr16:88691151G>T	ENST00000301011.5	+	12	2240	c.2040G>T	c.(2038-2040)agG>agT	p.R680S	ZC3H18_ENST00000452588.2_Missense_Mutation_p.R704S	NM_144604.3	NP_653205.3	Q86VM9	ZCH18_HUMAN	zinc finger CCCH-type containing 18	680	Ser-rich.					nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(9)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	42				BRCA - Breast invasive adenocarcinoma(80;0.0542)		CCCCCCCCAGGAGGTGAGCAC	0.662																																					Ovarian(121;375 2276 20373 38669)	ENST00000301011.5																			0				endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(9)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	42						c.(2038-2040)agG>agT		zinc finger CCCH-type containing 18																																				SO:0001583	missense	124245					nucleus	nucleic acid binding|zinc ion binding	g.chr16:88691151G>T	BC001584	CCDS10967.1, CCDS73924.1	16q24.2-q24.3	2012-07-05			ENSG00000158545	ENSG00000158545		"Zinc fingers, CCCH-type domain containing"	25091	protein-coding gene	gene with protein product						17579712	Standard	NM_144604		Approved	NHN1	uc002fky.3	Q86VM9	OTTHUMG00000137679	ENST00000301011.5:c.2040G>T	16.37:g.88691151G>T	ENSP00000301011:p.Arg680Ser					ZC3H18_ENST00000452588.2_Missense_Mutation_p.R704S	p.R680S	NM_144604.3	NP_653205.3	Q86VM9	ZCH18_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0542)	12	2240	+			680			Ser-rich.		Q96DG4|Q96MP7	Missense_Mutation	SNP	ENST00000301011.5	37	c.2040G>T	CCDS10967.1	.	.	.	.	.	.	.	.	.	.	G	8.353	0.831247	0.16820	.	.	ENSG00000158545	ENST00000301011;ENST00000289509;ENST00000452588	T;T	0.32753	1.44;1.46	5.38	3.41	0.39046	.	0.103006	0.64402	D	0.000007	T	0.46464	0.1394	L	0.54323	1.7	0.40359	D	0.979224	D;D	0.61080	0.989;0.989	D;D	0.75020	0.985;0.985	T	0.47649	-0.9101	10	0.87932	D	0	-29.8136	9.6122	0.39670	0.1606:0.0:0.8394:0.0	.	704;680	E7ERS3;Q86VM9	.;ZCH18_HUMAN	S	680;648;704	ENSP00000301011:R680S;ENSP00000416951:R704S	ENSP00000289509:R648S	R	+	3	2	ZC3H18	87218652	1.000000	0.71417	1.000000	0.80357	0.098000	0.18820	2.324000	0.43831	1.264000	0.44198	0.655000	0.94253	AGG		0.662	ZC3H18-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000269168.1	NM_144604		8	8	1	0	2.52707e-12	1	2.67147e-12	8	8					T	88691151	G	T	88691151	3	4	9	1	0	0	0	0	1	0	0	0	17565	1165	41	5	2082	5	ZC3H18	16	88691151	Missense_Mutation	SNP	G	TCGA-2A-AAYO-01A-11D-A41K-08	57256639	88691151	1663602	20	311											
ZMYND15	84225	broad.mit.edu	37	chr17	4643959	4643959	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agggactagccttgagggccGctgccggcagctggaggccc	6	5	17	13	2	0	1	0	1	0	0	0	3	0	3	4	5	3	3	4	5	1	2			TCGA-2A-AAYO-01A-11D-A41K-08	TCGA-2A-AAYO-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f519e32d-0ee8-4f58-975c-3d717fb4e774	441ada11-8a1f-40e6-8c6e-6ba3b7c22b4b	g.chr17:4643959G>A	ENST00000433935.1	+	2	173	c.116G>A	c.(115-117)cGc>cAc	p.R39H	ZMYND15_ENST00000269289.6_Missense_Mutation_p.R39H|ZMYND15_ENST00000573751.2_Missense_Mutation_p.R39H|ZMYND15_ENST00000592813.1_Missense_Mutation_p.R39H|CXCL16_ENST00000574412.1_5'Flank|CXCL16_ENST00000293778.6_5'Flank	NM_001136046.2|NM_001267822.1	NP_001129518.1|NP_001254751.1	Q9H091	ZMY15_HUMAN	zinc finger, MYND-type containing 15	39					negative regulation of transcription, DNA-templated (GO:0045892)|spermatid development (GO:0007286)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			endometrium(5)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(2)	18						CTTGAGGGCCGCTGCCGGCAG	0.607																																						ENST00000433935.1																			0				endometrium(5)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(2)	18						c.(115-117)cGc>cAc		zinc finger, MYND-type containing 15							60	59	60					17																	4643959		2203	4300	6503	SO:0001583	missense	84225						zinc ion binding	g.chr17:4643959G>A	AL136893	CCDS11053.1, CCDS45584.1, CCDS58506.1	17p13.3	2008-05-02			ENSG00000141497	ENSG00000141497		"Zinc fingers, MYND-type"	20997	protein-coding gene	gene with protein product		614312				11230166	Standard	NM_001136046		Approved	DKFZp434N127	uc002fyu.3	Q9H091	OTTHUMG00000090760	ENST00000433935.1:c.116G>A	17.37:g.4643959G>A	ENSP00000391742:p.Arg39His					ZMYND15_ENST00000573751.2_Missense_Mutation_p.R39H|ZMYND15_ENST00000592813.1_Missense_Mutation_p.R39H|ZMYND15_ENST00000269289.6_Missense_Mutation_p.R39H	p.R39H	NM_001136046.2|NM_001267822.1	NP_001129518.1|NP_001254751.1	Q9H091	ZMY15_HUMAN			2	173	+			39					B4DXY5|I3L296	Missense_Mutation	SNP	ENST00000433935.1	37	c.116G>A	CCDS45584.1	.	.	.	.	.	.	.	.	.	.	G	9.788	1.177175	0.21787	.	.	ENSG00000141497	ENST00000433935;ENST00000269289	T;T	0.55588	0.52;0.51	5.26	4.25	0.50352	.	0.124563	0.37136	N	0.002221	T	0.37237	0.0996	L	0.27053	0.805	0.31682	N	0.642946	B;B	0.23249	0.082;0.032	B;B	0.15870	0.014;0.004	T	0.46803	-0.9165	10	0.87932	D	0	-7.6463	8.7825	0.34800	0.1091:0.0:0.8909:0.0	.	39;39	B4DXY5;Q9H091	.;ZMY15_HUMAN	H	39	ENSP00000391742:R39H;ENSP00000269289:R39H	ENSP00000269289:R39H	R	+	2	0	ZMYND15	4590708	0.203000	0.23435	0.971000	0.41717	0.225000	0.24961	0.873000	0.28052	1.362000	0.46000	-0.366000	0.07423	CGC		0.607	ZMYND15-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439580.1	NM_032265		13	14	0	0	0	1	0	13	14					A	4643959	G	A	4643959	3	1	9	1	0	0	0	0	1	0	0	0	17705	1087	38	1	118	1	ZMYND15	17	4643959	Missense_Mutation	SNP	G	TCGA-2A-AAYO-01A-11D-A41K-08		4643959	76551251	21	312											
MYH8	4626	broad.mit.edu	37	chr17	10305040	10305040	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tctttgattttggcctcaagTtggattttgtttttaatcag	7	21	8	5	0	3	1	2	1	1	0	3	2	3	2	1	2	0	2	1	2	2	9			TCGA-2A-AAYO-01A-11D-A41K-08	TCGA-2A-AAYO-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f519e32d-0ee8-4f58-975c-3d717fb4e774	441ada11-8a1f-40e6-8c6e-6ba3b7c22b4b	g.chr17:10305040T>A	ENST00000403437.2	-	23	2845	c.2751A>T	c.(2749-2751)caA>caT	p.Q917H	CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	917					ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|skeletal muscle contraction (GO:0003009)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|myosin light chain binding (GO:0032027)|structural constituent of muscle (GO:0008307)			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						TGGCCTCAAGTTGGATTTTGT	0.428									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling																													ENST00000403437.2																			0				NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						c.(2749-2751)caA>caT		myosin, heavy chain 8, skeletal muscle, perinatal							298	290	293					17																	10305040		2203	4300	6503	SO:0001583	missense	4626	Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling	Familial Cancer Database	Carney Complex Variant	muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle	g.chr17:10305040T>A		CCDS11153.1	17p13.1	2013-09-19	2006-09-29		ENSG00000133020	ENSG00000133020		"Myosins / Myosin superfamily : Class II"	7578	protein-coding gene	gene with protein product		160741	"myosin, heavy polypeptide 8, skeletal muscle, perinatal"			2373371	Standard	NM_002472		Approved	MyHC-peri, MyHC-pn	uc002gmm.2	P13535	OTTHUMG00000130361	ENST00000403437.2:c.2751A>T	17.37:g.10305040T>A	ENSP00000384330:p.Gln917His					CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA	p.Q917H	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN			23	2845	-			917					Q14910	Missense_Mutation	SNP	ENST00000403437.2	37	c.2751A>T	CCDS11153.1	.	.	.	.	.	.	.	.	.	.	T	12.33	1.905549	0.33628	.	.	ENSG00000133020	ENST00000252173;ENST00000403437	D	0.91180	-2.8	5.29	3.29	0.37713	.	0.000000	0.39544	U	0.001322	D	0.90487	0.7020	M	0.89095	3.005	0.44323	D	0.997205	B	0.02656	0.0	B	0.06405	0.002	D	0.87347	0.2335	10	0.72032	D	0.01	.	8.5766	0.33603	0.0:0.7625:0.0:0.2375	.	917	P13535	MYH8_HUMAN	H	917	ENSP00000384330:Q917H	ENSP00000252173:Q917H	Q	-	3	2	MYH8	10245765	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	0.885000	0.28227	0.786000	0.33708	-0.462000	0.05337	CAA		0.428	MYH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252724.2	NM_002472		7	163	0	0	0	1	0	7	163					A	10305040	T	A	10305040	3	1	9	1	0	0	0	0	1	0	0	0	10041	1722	60	5	3134	5	MYH8	17	10305040	Missense_Mutation	SNP	T	TCGA-2A-AAYO-01A-11D-A41K-08	5661081	10305040	70890170	22	313											
TNRC6C	57690	broad.mit.edu	37	chr17	76094486	76094486	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cctcccacacgcaagcctctCtgtctcatgaactatggaag	10	9	7	15	1	2	1	1	1	2	0	5	2	3	2	3	1	2	1	3	1	4	1			TCGA-2A-AAYO-01A-11D-A41K-08	TCGA-2A-AAYO-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f519e32d-0ee8-4f58-975c-3d717fb4e774	441ada11-8a1f-40e6-8c6e-6ba3b7c22b4b	g.chr17:76094486C>G	ENST00000588061.1	+	19	5096	c.4369C>G	c.(4369-4371)Ctg>Gtg	p.L1457V	TNRC6C_ENST00000588847.1_Missense_Mutation_p.L1493V|TNRC6C_ENST00000541771.1_Missense_Mutation_p.L1457V|TNRC6C_ENST00000335749.4_Missense_Mutation_p.L1493V|TNRC6C_ENST00000544502.1_Missense_Mutation_p.L1493V|TNRC6C_ENST00000301624.4_Missense_Mutation_p.L1457V			Q9HCJ0	TNR6C_HUMAN	trinucleotide repeat containing 6C	1457	Silencing domain; interaction with CNOT1 and PAN3.|Sufficient for translational repression when tethered to a target mRNA.				embryonic hemopoiesis (GO:0035162)|endoderm formation (GO:0001706)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|regulation of gene silencing by miRNA (GO:0060964)	cytosol (GO:0005829)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)			GCAAGCCTCTCTGTCTCATGA	0.552																																						ENST00000335749.4																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	40						c.(4477-4479)Ctg>Gtg		trinucleotide repeat containing 6C							62	68	66					17																	76094486		2022	4190	6212	SO:0001583	missense	57690				gene silencing by RNA|regulation of translation		nucleotide binding|RNA binding	g.chr17:76094486C>G	AL834429	CCDS45798.1, CCDS45799.1	17q25.3	2012-10-04			ENSG00000078687	ENSG00000078687		"Trinucleotide (CAG) repeat containing"	29318	protein-coding gene	gene with protein product		610741					Standard	NM_018996		Approved	KIAA1582, FLJ20015	uc002juf.2	Q9HCJ0	OTTHUMG00000132642	ENST00000588061.1:c.4369C>G	17.37:g.76094486C>G	ENSP00000468647:p.Leu1457Val					TNRC6C_ENST00000588847.1_Missense_Mutation_p.L1493V|TNRC6C_ENST00000301624.4_Missense_Mutation_p.L1457V|TNRC6C_ENST00000541771.1_Missense_Mutation_p.L1457V|TNRC6C_ENST00000588061.1_Missense_Mutation_p.L1457V|TNRC6C_ENST00000544502.1_Missense_Mutation_p.L1493V	p.L1493V	NM_001142640.1	NP_001136112.1	Q9HCJ0	TNR6C_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)		18	5046	+			1457			Sufficient for translational repression when tethered to a target mRNA.		G3XAB8|Q86UE5|Q8N3D8|Q96MU9	Missense_Mutation	SNP	ENST00000588061.1	37	c.4477C>G	CCDS45798.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.036699	0.75617	.	.	ENSG00000078687	ENST00000455761;ENST00000395801;ENST00000335749;ENST00000301624;ENST00000541771;ENST00000544502	T;T;T;T	0.18174	2.32;2.23;2.23;2.32	5.35	4.39	0.52855	.	0.000000	0.64402	D	0.000001	T	0.34716	0.0907	L	0.52011	1.625	0.58432	D	0.999999	D;D	0.71674	0.998;0.997	D;D	0.77557	0.99;0.985	T	0.03202	-1.1061	10	0.44086	T	0.13	-7.6345	13.9847	0.64326	0.0:0.9262:0.0:0.0738	.	1493;1457	G3XAB8;Q9HCJ0	.;TNR6C_HUMAN	V	1457;1493;1493;1457;1457;1493	ENSP00000336783:L1493V;ENSP00000301624:L1457V;ENSP00000440310:L1457V;ENSP00000442421:L1493V	ENSP00000301624:L1457V	L	+	1	2	TNRC6C	73606081	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.748000	0.55142	1.244000	0.43870	0.655000	0.94253	CTG		0.552	TNRC6C-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000395947.1	NM_018996		9	23	0	0	0	1	0	9	23					G	76094486	C	G	76094486	3	3	9	1	0	0	0	0	1	0	0	0	16339	912	32	5	4548	5	TNRC6C	17	76094486	Missense_Mutation	SNP	C	TCGA-2A-AAYO-01A-11D-A41K-08	65789446	76094486	5100724	23	314											
JAG1	182	broad.mit.edu	37	chr20	10620426	10620426	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgttggccccatgtttctcaAtggggtttttgatctggttc	4	18	11	8	0	2	1	1	1	2	0	4	1	2	1	2	4	0	4	2	4	1	5			TCGA-2A-AAYO-01A-11D-A41K-08	TCGA-2A-AAYO-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f519e32d-0ee8-4f58-975c-3d717fb4e774	441ada11-8a1f-40e6-8c6e-6ba3b7c22b4b	g.chr20:10620426A>G	ENST00000254958.5	-	26	3892	c.3377T>C	c.(3376-3378)aTt>aCt	p.I1126T	JAG1_ENST00000423891.2_Missense_Mutation_p.I967T	NM_000214.2	NP_000205.1	P78504	JAG1_HUMAN	jagged 1	1126					angiogenesis (GO:0001525)|aorta morphogenesis (GO:0035909)|auditory receptor cell differentiation (GO:0042491)|blood vessel remodeling (GO:0001974)|cardiac neural crest cell development involved in outflow tract morphogenesis (GO:0061309)|cardiac right ventricle morphogenesis (GO:0003215)|cardiac septum morphogenesis (GO:0060411)|cell fate determination (GO:0001709)|ciliary body morphogenesis (GO:0061073)|distal tubule development (GO:0072017)|endocardial cushion cell development (GO:0061444)|endothelial cell differentiation (GO:0045446)|hemopoiesis (GO:0030097)|keratinocyte differentiation (GO:0030216)|loop of Henle development (GO:0072070)|morphogenesis of an epithelial sheet (GO:0002011)|myoblast differentiation (GO:0045445)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of stem cell differentiation (GO:2000737)|nervous system development (GO:0007399)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|positive regulation of myeloid cell differentiation (GO:0045639)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|pulmonary artery morphogenesis (GO:0061156)|pulmonary valve morphogenesis (GO:0003184)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|response to muramyl dipeptide (GO:0032495)|T cell mediated immunity (GO:0002456)	apical part of cell (GO:0045177)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|growth factor activity (GO:0008083)|Notch binding (GO:0005112)|structural molecule activity (GO:0005198)			biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|urinary_tract(1)	44						ATGTTTCTCAATGGGGTTTTT	0.512									Alagille Syndrome																													ENST00000254958.5																			0				biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|urinary_tract(1)	44						c.(3376-3378)aTt>aCt		jagged 1							128	121	123					20																	10620426		2203	4300	6503	SO:0001583	missense	182	Alagille Syndrome	Familial Cancer Database	ALGS1, ALGS2.Alagille-Watson syndrome	angiogenesis|cell communication|cell fate determination|endothelial cell differentiation|hemopoiesis|keratinocyte differentiation|myoblast differentiation|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation	extracellular region|integral to plasma membrane	calcium ion binding|growth factor activity|Notch binding|structural molecule activity	g.chr20:10620426A>G	U61276	CCDS13112.1	20p12.1-p11.23	2011-05-12	2010-06-24		ENSG00000101384	ENSG00000101384		"CD molecules"	6188	protein-coding gene	gene with protein product		601920	"Alagille syndrome"	AGS, JAGL1		7697721, 9207788	Standard	NM_000214		Approved	AHD, AWS, HJ1, CD339	uc002wnw.2	P78504	OTTHUMG00000031872	ENST00000254958.5:c.3377T>C	20.37:g.10620426A>G	ENSP00000254958:p.Ile1126Thr					JAG1_ENST00000423891.2_Missense_Mutation_p.I967T	p.I1126T	NM_000214.2	NP_000205.1	P78504	JAG1_HUMAN			26	3892	-			1126					A0AV43|B4DYR1|E9PCF9|O14902|O15122|Q15816	Missense_Mutation	SNP	ENST00000254958.5	37	c.3377T>C	CCDS13112.1	.	.	.	.	.	.	.	.	.	.	A	15.56	2.869428	0.51588	.	.	ENSG00000101384	ENST00000254958;ENST00000423891	D;D	0.87412	-2.25;-2.25	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	D	0.89712	0.6794	L	0.36672	1.1	0.80722	D	1	D	0.67145	0.996	D	0.63703	0.917	D	0.90959	0.4811	10	0.87932	D	0	.	16.17	0.81801	1.0:0.0:0.0:0.0	.	1126	P78504	JAG1_HUMAN	T	1126;967	ENSP00000254958:I1126T;ENSP00000389519:I967T	ENSP00000254958:I1126T	I	-	2	0	JAG1	10568426	1.000000	0.71417	0.961000	0.40146	0.995000	0.86356	8.910000	0.92685	2.279000	0.76181	0.533000	0.62120	ATT		0.512	JAG1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_000214		27	45	0	0	0	1	0	27	45					G	10620426	A	G	10620426	3	3	9	1	0	0	0	0	1	0	0	0	7934	101	4	4	283	4	JAG1	20	10620426	Missense_Mutation	SNP	A	TCGA-2A-AAYO-01A-11D-A41K-08		10620426	52405094	24	315											
SMARCA1	6594	broad.mit.edu	37	chrX	128624063	128624064	+	Frame_Shift_Ins	INS	-	-	T																															tataacaattgaatcgagtcINStcagttttatctcagctctt																										TCGA-2A-AAYO-01A-11D-A41K-08	TCGA-2A-AAYO-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f519e32d-0ee8-4f58-975c-3d717fb4e774	441ada11-8a1f-40e6-8c6e-6ba3b7c22b4b	g.chrX:128624063_128624064insT	ENST00000371122.4	-	15	2050_2051	c.1921_1922insA	c.(1921-1923)agafs	p.R641fs	SMARCA1_ENST00000371121.3_Frame_Shift_Ins_p.R629fs|SMARCA1_ENST00000371123.1_Frame_Shift_Ins_p.R629fs	NM_003069.3	NP_003060.2	P28370	SMCA1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1	641	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|brain development (GO:0007420)|chromatin remodeling (GO:0006338)|DNA strand renaturation (GO:0000733)|neuron differentiation (GO:0030182)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of neural precursor cell proliferation (GO:2000177)|transcription, DNA-templated (GO:0006351)	CERF complex (GO:0090537)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|NURF complex (GO:0016589)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(13)|ovary(5)|prostate(1)|skin(1)	45						TGAATCGAGTCTCAGTTTTATC	0.342																																						ENST00000371122.4																			0				biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(13)|ovary(5)|prostate(1)|skin(1)	45						c.(1921-1923)actfs		SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1																																				SO:0001589	frameshift_variant	6594				ATP-dependent chromatin remodeling|brain development|neuron differentiation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	NURF complex	ATP binding|DNA binding|helicase activity|nucleosome binding|protein binding	g.chrX:128624063_128624064insT	M88163	CCDS14612.1, CCDS76018.1, CCDS76019.1	Xq25	2008-02-05			ENSG00000102038	ENSG00000102038			11097	protein-coding gene	gene with protein product		300012		SNF2L1, SNF2L		1408766, 14609955	Standard	XM_005262461		Approved	SNF2LB, NURF140, ISWI, SWI	uc004eun.4	P28370	OTTHUMG00000022370	ENST00000371122.4:c.1922dupA	X.37:g.128624064_128624064dupT	ENSP00000360163:p.Arg641fs					SMARCA1_ENST00000371121.3_Frame_Shift_Ins_p.T629fs|SMARCA1_ENST00000371123.1_Frame_Shift_Ins_p.T629fs	p.T641fs	NM_003069.3	NP_003060.2	P28370	SMCA1_HUMAN			15	2050_2051	-			641			Helicase C-terminal.		Q5JV41|Q5JV42	Frame_Shift_Ins	INS	ENST00000371122.4	37	c.1921_1922insA	CCDS14612.1																																																																																				0.342	SMARCA1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058206.1	NM_003069		25	12						25	12	---	---	---	---	T	128624064	-	T	128624063	7	5	9	1	0	1	1	0	0	0	0	0	14768	913	32	0	1282	0	SMARCA1	23	128624063	Frame_Shift_Ins	INS	-	TCGA-2A-AAYO-01A-11D-A41K-08		128624063	26646497	25	316											
SCP2	6342	broad.mit.edu	37	chr1	53453802	53453802	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caaagggacacccactaggcGctacaggtaatgctacatac	14	6	9	12	1	0	0	0	0	0	0	0	1	0	1	1	3	4	3	1	3	6	5			TCGA-2A-AAYU-01A-11D-A41K-08	TCGA-2A-AAYU-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3333fa05-d0eb-46bb-91af-2492f5b84e23	1695b0a1-b764-4797-83d5-4fcfed8fb4a7	g.chr1:53453802G>A	ENST00000528311.1	+	10	1128	c.832G>A	c.(832-834)Gct>Act	p.A278T	SCP2_ENST00000407246.2_Missense_Mutation_p.A335T|SCP2_ENST00000371513.5_Missense_Mutation_p.A315T|SCP2_ENST00000371509.4_Missense_Mutation_p.A315T|SCP2_ENST00000371514.3_Missense_Mutation_p.A359T	NM_001193617.1	NP_001180546.1	Q9BX26	SYCP2_HUMAN	sterol carrier protein 2	0					female meiotic division (GO:0007143)|fertilization (GO:0009566)|male genitalia morphogenesis (GO:0048808)|male meiosis (GO:0007140)|negative regulation of apoptotic process (GO:0043066)|synaptonemal complex assembly (GO:0007130)	lateral element (GO:0000800)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	DNA binding (GO:0003677)			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(1)	15						CCCACTAGGCGCTACAGGTAA	0.368																																						ENST00000371514.3																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(1)	15						c.(1075-1077)Gct>Act		sterol carrier protein 2							66	71	70					1																	53453802		2203	4300	6503	SO:0001583	missense	6342				bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase|lipid transport	mitochondrion|nucleus|peroxisomal matrix	propanoyl-CoA C-acyltransferase activity|propionyl-CoA C2-trimethyltridecanoyltransferase activity|protein binding|sterol binding	g.chr1:53453802G>A	M75884	CCDS572.1, CCDS30719.1, CCDS41338.1, CCDS44149.1, CCDS44150.1, CCDS53317.1, CCDS53318.1, CCDS53319.1	1p32	2010-08-20			ENSG00000116171	ENSG00000116171			10606	protein-coding gene	gene with protein product		184755				1703300, 1718316	Standard	NM_001007098		Approved		uc001cur.2	P22307	OTTHUMG00000008936	ENST00000528311.1:c.832G>A	1.37:g.53453802G>A	ENSP00000434132:p.Ala278Thr					SCP2_ENST00000528311.1_Missense_Mutation_p.A278T|SCP2_ENST00000407246.2_Missense_Mutation_p.A335T|SCP2_ENST00000371509.4_Missense_Mutation_p.A315T|SCP2_ENST00000371513.5_Missense_Mutation_p.A315T	p.A359T	NM_002979.4	NP_002970.2	P22307	NLTP_HUMAN			11	1243	+			359					A2RUE5|O75763|Q5JX11|Q9NTX8|Q9UG27	Missense_Mutation	SNP	ENST00000528311.1	37	c.1075G>A	CCDS53319.1	.	.	.	.	.	.	.	.	.	.	G	35	5.594882	0.96602	.	.	ENSG00000116171	ENST00000371514;ENST00000528311;ENST00000371509;ENST00000407246;ENST00000371513	D;D;D;D;D	0.93366	-2.06;-3.21;-2.06;-2.06;-3.21	5.8	5.8	0.92144	Thiolase-like, subgroup (1);Thiolase-like (1);Thiolase, conserved site (1);Thiolase, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.98394	0.9466	H	0.98754	4.32	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;0.999;0.999	D	0.99316	1.0905	10	0.87932	D	0	-19.6966	19.669	0.95903	0.0:0.0:1.0:0.0	.	335;315;359;315	C9JC79;A6NM69;P22307;Q6NXF4	.;.;NLTP_HUMAN;.	T	359;278;315;335;315	ENSP00000360569:A359T;ENSP00000434132:A278T;ENSP00000360564:A315T;ENSP00000384569:A335T;ENSP00000360568:A315T	ENSP00000360564:A315T	A	+	1	0	SCP2	53226390	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	8.840000	0.92125	2.741000	0.93983	0.650000	0.86243	GCT		0.368	SCP2-010	PUTATIVE	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000387558.1	NM_002979		15	18	0	0	0	1	0	15	18					A	53453802	G	A	53453802	3	1	10	1	0	0	0	0	1	0	0	0	13934	1087	38	1	1117	1	SCP2	1	53453802	Missense_Mutation	SNP	G	TCGA-2A-AAYU-01A-11D-A41K-08		53453802	195796819	1	317											
GBP6	163351	broad.mit.edu	37	chr1	89844044	89844044	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gcctgatggagtagaagattCcacagagtttgtgagtttct	10	13	12	6	0	1	5	0	2	1	3	2	6	2	6	2	1	0	3	2	1	2	4			TCGA-2A-AAYU-01A-11D-A41K-08	TCGA-2A-AAYU-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3333fa05-d0eb-46bb-91af-2492f5b84e23	1695b0a1-b764-4797-83d5-4fcfed8fb4a7	g.chr1:89844044C>T	ENST00000370456.4	+	5	590	c.497C>T	c.(496-498)tCc>tTc	p.S166F	GBP6_ENST00000535065.1_Missense_Mutation_p.S36F	NM_198460.2	NP_940862.2	Q6ZN66	GBP6_HUMAN	guanylate binding protein family, member 6	166	GB1/RHD3-type G.|GTPase domain (Globular). {ECO:0000250}.				cellular response to interferon-gamma (GO:0071346)|defense response to bacterium (GO:0042742)|immune response (GO:0006955)	extracellular vesicular exosome (GO:0070062)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	42		Lung NSC(277;0.0908)		all cancers(265;0.0108)|Epithelial(280;0.0398)		GTAGAAGATTCCACAGAGTTT	0.453																																						ENST00000370456.4																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	42						c.(496-498)tCc>tTc		guanylate binding protein family, member 6							124	131	129					1																	89844044		2203	4300	6503	SO:0001583	missense	163351						GTP binding|GTPase activity	g.chr1:89844044C>T	BX537949	CCDS723.1	1p22	2008-02-05			ENSG00000183347	ENSG00000183347			25395	protein-coding gene	gene with protein product		612467					Standard	NM_198460		Approved	DKFZp686G0786	uc001dnf.2	Q6ZN66	OTTHUMG00000010123	ENST00000370456.4:c.497C>T	1.37:g.89844044C>T	ENSP00000359485:p.Ser166Phe					GBP6_ENST00000535065.1_Missense_Mutation_p.S36F	p.S166F	NM_198460.2	NP_940862.2	Q6ZN66	GBP6_HUMAN		all cancers(265;0.0108)|Epithelial(280;0.0398)	5	590	+		Lung NSC(277;0.0908)	166					A2RRM3|Q6ZN86|Q7Z3F0	Missense_Mutation	SNP	ENST00000370456.4	37	c.497C>T	CCDS723.1	.	.	.	.	.	.	.	.	.	.	C	15.60	2.880789	0.51801	.	.	ENSG00000183347	ENST00000544311;ENST00000370456;ENST00000535065	T;T	0.76316	-1.01;-1.01	4.97	3.0	0.34707	Guanylate-binding protein, N-terminal (1);	0.486738	0.19966	N	0.102120	D	0.83436	0.5254	M	0.88512	2.96	0.19300	N	0.999979	D	0.89917	1.0	D	0.81914	0.995	T	0.76605	-0.2898	10	0.87932	D	0	-13.1611	9.5929	0.39557	0.1597:0.6861:0.1542:0.0	.	166	Q6ZN66	GBP6_HUMAN	F	137;166;36	ENSP00000359485:S166F;ENSP00000442530:S36F	ENSP00000359485:S166F	S	+	2	0	GBP6	89616632	0.001000	0.12720	0.001000	0.08648	0.004000	0.04260	1.084000	0.30828	0.439000	0.26476	0.585000	0.79938	TCC		0.453	GBP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028001.1	NM_198460		22	80	0	0	0	1	0	22	80					T	89844044	C	T	89844044	3	4	10	1	0	0	0	0	1	0	0	0	6278	855	30	3	511	3	GBP6	1	89844044	Missense_Mutation	SNP	C	TCGA-2A-AAYU-01A-11D-A41K-08	36390242	89844044	159406577	2	318											
RYR2	6262	broad.mit.edu	37	chr1	237972270	237972270	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tggtggcattcaattttttcCgaaaattctacaataaaagt	14	15	6	6	1	2	0	1	0	1	0	3	1	3	0	1	2	1	1	1	2	7	7			TCGA-2A-AAYU-01A-11D-A41K-08	TCGA-2A-AAYU-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3333fa05-d0eb-46bb-91af-2492f5b84e23	1695b0a1-b764-4797-83d5-4fcfed8fb4a7	g.chr1:237972270C>T	ENST00000366574.2	+	100	14685	c.14368C>T	c.(14368-14370)Cga>Tga	p.R4790*	RYR2_ENST00000360064.6_Nonsense_Mutation_p.R4796*|RYR2_ENST00000542537.1_Nonsense_Mutation_p.R4774*	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4790					BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)	p.R4788R(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			CAATTTTTTCCGAAAATTCTA	0.353																																						ENST00000366574.2																			1	Substitution - coding silent(1)	p.R4788R(1)	lung(1)	NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586						c.(14368-14370)Cga>Tga		ryanodine receptor 2 (cardiac)							260	254	256					1																	237972270		1845	4094	5939	SO:0001587	stop_gained	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237972270C>T	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"Ion channels / Ryanodine receptors", "EF-hand domain containing"	10484	protein-coding gene	gene with protein product		180902	"arrhythmogenic right ventricular dysplasia 2"	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.14368C>T	1.37:g.237972270C>T	ENSP00000355533:p.Arg4790*					RYR2_ENST00000542537.1_Nonsense_Mutation_p.R4774*|RYR2_ENST00000360064.6_Nonsense_Mutation_p.R4796*	p.R4790*	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		100	14685	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	4790					Q15411|Q546N8|Q5T3P2	Nonsense_Mutation	SNP	ENST00000366574.2	37	c.14368C>T	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	C	55	24.986533	0.99963	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537;ENST00000536033	.	.	.	4.88	3.95	0.45737	.	0.000000	0.47852	U	0.000203	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.754	0.69549	0.146:0.854:0.0:0.0	.	.	.	.	X	4790;4796;4774;223	.	ENSP00000353174:R4796X	R	+	1	2	RYR2	236038893	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	3.324000	0.52022	1.162000	0.42619	-0.309000	0.09137	CGA		0.353	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		68	88	0	0	0	1	0	68	88					T	237972270	C	T	237972270	4	4	10	1	0	0	0	0	0	1	0	0	13769	644	23	2	14766	2	RYR2	1	237972270	Nonsense_Mutation	SNP	C	TCGA-2A-AAYU-01A-11D-A41K-08	148128226	237972270	11278351	3	319											
PSME4	23198	broad.mit.edu	37	chr2	54114534	54114534	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	aattcgagcagtaaactcagGgacatgaggcgatatggttg	13	9	13	6	2	1	1	1	1	0	0	2	4	1	2	0	3	2	3	0	3	4	4			TCGA-2A-AAYU-01A-11D-A41K-08	TCGA-2A-AAYU-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3333fa05-d0eb-46bb-91af-2492f5b84e23	1695b0a1-b764-4797-83d5-4fcfed8fb4a7	g.chr2:54114534G>C	ENST00000404125.1	-	40	4646	c.4591C>G	c.(4591-4593)Cct>Gct	p.P1531A	PSME4_ENST00000421748.2_Missense_Mutation_p.P675A|PSME4_ENST00000476586.1_5'Flank	NM_014614.2	NP_055429.2	Q14997	PSME4_HUMAN	proteasome (prosome, macropain) activator subunit 4	1531					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to DNA damage stimulus (GO:0006974)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|proteasomal ubiquitin-independent protein catabolic process (GO:0010499)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|spermatogenesis, exchange of chromosomal proteins (GO:0035093)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleus (GO:0005634)|spermatoproteasome complex (GO:1990111)	lysine-acetylated histone binding (GO:0070577)|peptidase activator activity (GO:0016504)			breast(5)|endometrium(8)|kidney(1)|large_intestine(11)|lung(26)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(2)	60			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			GTAAACTCAGGGACATGAGGC	0.373																																						ENST00000404125.1																			0				breast(5)|endometrium(8)|kidney(1)|large_intestine(11)|lung(26)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(2)	60						c.(4591-4593)Cct>Gct		proteasome (prosome, macropain) activator subunit 4							121	111	114					2																	54114534		2203	4300	6503	SO:0001583	missense	23198				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|mRNA metabolic process|multicellular organismal development|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|spermatogenesis|viral reproduction	nuclear speck|proteasome complex	binding	g.chr2:54114534G>C	D38521	CCDS33197.2	2p16.1	2003-04-14			ENSG00000068878	ENSG00000068878		"Proteasome (prosome, macropain) subunits"	20635	protein-coding gene	gene with protein product		607705				7584044, 12093752	Standard	NM_014614		Approved	PA200, KIAA0077	uc002rxp.2	Q14997	OTTHUMG00000151852	ENST00000404125.1:c.4591C>G	2.37:g.54114534G>C	ENSP00000384211:p.Pro1531Ala					PSME4_ENST00000421748.2_Missense_Mutation_p.P675A	p.P1531A	NM_014614.2	NP_055429.2	Q14997	PSME4_HUMAN	Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)		40	4646	-			1531					Q1XBG4|Q1XBG5|Q1XBG6|Q2M1Z0|Q6IPR2|Q86XF8	Missense_Mutation	SNP	ENST00000404125.1	37	c.4591C>G	CCDS33197.2	.	.	.	.	.	.	.	.	.	.	G	9.662	1.144345	0.21205	.	.	ENSG00000068878	ENST00000421748;ENST00000404125	T;T	0.66280	-0.2;-0.2	5.48	2.19	0.27852	Armadillo-like helical (1);Armadillo-type fold (1);	0.299113	0.37483	N	0.002079	T	0.26268	0.0641	N	0.01352	-0.895	0.31355	N	0.68211	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.04013	0.001;0.0;0.0;0.0	T	0.27905	-1.0060	10	0.08381	T	0.77	1.9818	8.9163	0.35583	0.3443:0.0:0.6557:0.0	.	906;675;675;1531	Q14997-2;Q14997-3;F8WB44;Q14997	.;.;.;PSME4_HUMAN	A	675;1531	ENSP00000410830:P675A;ENSP00000384211:P1531A	ENSP00000384211:P1531A	P	-	1	0	PSME4	53968038	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	0.863000	0.27913	0.785000	0.33685	0.655000	0.94253	CCT		0.373	PSME4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324163.1	XM_040158		8	52	0	0	0	1	0	8	52					C	54114534	G	C	54114534	3	2	10	1	0	0	0	0	1	0	0	0	12709	1232	43	5	968	5	PSME4	2	54114534	Missense_Mutation	SNP	G	TCGA-2A-AAYU-01A-11D-A41K-08		54114534	189084839	4	320											
MUC13	56667	broad.mit.edu	37	chr3	124627149	124627149	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttttagattttgaaagtcttCgtcaatcaagttctcttctt	9	20	5	7	1	5	2	2	1	3	1	7	2	5	2	0	0	0	1	0	0	4	8	rs75643991		TCGA-2A-AAYU-01A-11D-A41K-08	TCGA-2A-AAYU-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3333fa05-d0eb-46bb-91af-2492f5b84e23	1695b0a1-b764-4797-83d5-4fcfed8fb4a7	g.chr3:124627149C>T	ENST00000311075.3	-	11	1419	c.1381G>A	c.(1381-1383)Gaa>Aaa	p.E461K		NM_033049.3	NP_149038	Q9H3R2	MUC13_HUMAN	mucin 13, cell surface associated	462					cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(1)|skin(1)|stomach(1)	18						TGAAAGTCTTCGTCAATCAAG	0.413													C|||	1	0.000199681	0	0	5008	,	,		17248	0		0.001	False		,,,				2504	0					ENST00000311075.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(1)|skin(1)|stomach(1)	18						c.(1381-1383)Gaa>Aaa		mucin 13, cell surface associated		C	LYS/GLU	2,4404	4.2+/-10.8	0,2,2201	86	82	83		1381	-6.2	0	3	dbSNP_131	83	4,8596	3.7+/-12.6	0,4,4296	yes	missense	MUC13	NM_033049.3	56	0,6,6497	TT,TC,CC		0.0465,0.0454,0.0461	benign	461/512	124627149	6,13000	2203	4300	6503	SO:0001583	missense	56667					extracellular region|integral to membrane|plasma membrane		g.chr3:124627149C>T	AF286113		3q21.2	2007-01-17	2006-03-14		ENSG00000173702	ENSG00000173702		"Mucins"	7511	protein-coding gene	gene with protein product		612181	"down-regulated in colon cancer 1", "mucin 13, epithelial transmembrane"	DRCC1		11278439	Standard	NM_033049		Approved		uc003ehq.2	Q9H3R2	OTTHUMG00000159484	ENST00000311075.3:c.1381G>A	3.37:g.124627149C>T	ENSP00000312235:p.Glu461Lys						p.E461K	NM_033049.3	NP_149038.3	Q9H3R2	MUC13_HUMAN			11	1419	-			461					Q6UWD9|Q9NXT5	Missense_Mutation	SNP	ENST00000311075.3	37	c.1381G>A		1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	5.695	0.312795	0.10789	4.54E-4	4.65E-4	ENSG00000173702	ENST00000311075	T	0.14144	2.53	4.18	-6.19	0.02078	.	1.017770	0.07856	N	0.965413	T	0.04272	0.0118	N	0.04508	-0.205	0.09310	N	1	B	0.12630	0.006	B	0.04013	0.001	T	0.44997	-0.9291	10	0.08599	T	0.76	-12.1255	7.1962	0.25853	0.1312:0.5197:0.0:0.3491	.	461	Q9H3R2	MUC13_HUMAN	K	461	ENSP00000312235:E461K	ENSP00000312235:E461K	E	-	1	0	MUC13	126109839	0.000000	0.05858	0.000000	0.03702	0.105000	0.19272	-0.566000	0.05922	-1.196000	0.02676	-0.122000	0.15005	GAA		0.413	MUC13-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000355714.1	NM_033049		16	59	0	0	0	1	0	16	59					T	124627149	C	T	124627149	3	4	10	1	0	0	0	0	1	0	0	0	9971	893	31	2	158	2	MUC13	3	124627149	Missense_Mutation	SNP	C	TCGA-2A-AAYU-01A-11D-A41K-08		124627149	73395281	5	321											
ADH6	130	broad.mit.edu	37	chr4	100126203	100126203	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agcaaccagtttagggatgtGctgtctgctcttccagcctg	7	12	11	11	0	2	0	0	0	2	0	3	1	3	1	3	1	5	4	3	1	2	3			TCGA-2A-AAYU-01A-11D-A41K-08	TCGA-2A-AAYU-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3333fa05-d0eb-46bb-91af-2492f5b84e23	1695b0a1-b764-4797-83d5-4fcfed8fb4a7	g.chr4:100126203G>A	ENST00000237653.7	-	8	1366	c.982C>T	c.(982-984)Cac>Tac	p.H328Y	RP11-696N14.1_ENST00000506454.1_RNA|ADH6_ENST00000394897.1_Silent_p.S282S|ADH6_ENST00000407820.2_Missense_Mutation_p.H119Y|RP11-696N14.1_ENST00000506160.1_RNA|ADH6_ENST00000394899.2_Missense_Mutation_p.H328Y|RP11-696N14.1_ENST00000500358.2_RNA	NM_000672.3	NP_000663	P28332	ADH6_HUMAN	alcohol dehydrogenase 6 (class V)	328					ethanol oxidation (GO:0006069)|response to ethanol (GO:0045471)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	alcohol dehydrogenase (NAD) activity (GO:0004022)|alcohol dehydrogenase activity, zinc-dependent (GO:0004024)|ethanol binding (GO:0035276)|zinc ion binding (GO:0008270)			breast(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(2)	20				OV - Ovarian serous cystadenocarcinoma(123;3.58e-08)	Abacavir(DB01048)	TTAGGGATGTGCTGTCTGCTC	0.363																																						ENST00000394899.2																			0				breast(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(2)	20						c.(982-984)Cac>Tac		alcohol dehydrogenase 6 (class V)	Abacavir(DB01048)|NADH(DB00157)						150	142	145					4																	100126203		2203	4300	6503	SO:0001583	missense	130				ethanol oxidation|response to ethanol|xenobiotic metabolic process	cytosol	alcohol dehydrogenase (NAD) activity|electron carrier activity|zinc ion binding	g.chr4:100126203G>A	AK092768	CCDS3647.1, CCDS43255.1	4q23	2008-02-05			ENSG00000172955	ENSG00000172955	1.1.1.1	"Alcohol dehydrogenases"	255	protein-coding gene	gene with protein product		103735				1881901	Standard	NM_000672		Approved	ADH-5	uc003huo.2	P28332	OTTHUMG00000131024	ENST00000237653.7:c.982C>T	4.37:g.100126203G>A	ENSP00000237653:p.His328Tyr					RP11-696N14.1_ENST00000500358.2_RNA|RP11-696N14.1_ENST00000506454.1_RNA|ADH6_ENST00000407820.2_Missense_Mutation_p.H119Y|ADH6_ENST00000394897.1_Silent_p.S282S|RP11-696N14.1_ENST00000506160.1_RNA|ADH6_ENST00000237653.7_Missense_Mutation_p.H328Y	p.H328Y	NM_001102470.1	NP_001095940.1	P28332	ADH6_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;3.58e-08)	8	1075	-			328					B3KS45|Q58F53	Missense_Mutation	SNP	ENST00000237653.7	37	c.982C>T	CCDS3647.1	.	.	.	.	.	.	.	.	.	.	G	5.621	0.299299	0.10622	.	.	ENSG00000172955	ENST00000394899;ENST00000407820;ENST00000237653	T;T;T	0.06371	3.31;3.31;3.31	3.79	-6.89	0.01660	Alcohol dehydrogenase, C-terminal (1);	1.741470	0.02705	N	0.112160	T	0.03178	0.0093	N	0.08118	0	0.09310	N	1	B;B;B	0.27498	0.002;0.18;0.139	B;B;B	0.26416	0.002;0.064;0.069	T	0.38045	-0.9679	10	0.62326	D	0.03	0.9617	4.4481	0.11607	0.3874:0.4156:0.1:0.097	.	205;328;328	B4DPD8;P28332;P28332-2	.;ADH6_HUMAN;.	Y	328;119;328	ENSP00000378359:H328Y;ENSP00000384997:H119Y;ENSP00000237653:H328Y	ENSP00000237653:H328Y	H	-	1	0	ADH6	100345226	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-3.999000	0.00316	-1.543000	0.01723	-0.280000	0.10049	CAC		0.363	ADH6-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000253665.1	NM_000672		4	106	0	0	0	1	0	4	106					A	100126203	G	A	100126203	3	1	10	1	0	0	0	0	1	0	0	0	312	1319	46	3	157	3	ADH6	4	100126203	Missense_Mutation	SNP	G	TCGA-2A-AAYU-01A-11D-A41K-08		100126203	91028073	6	322											
BANK1	55024	broad.mit.edu	37	chr4	102981512	102981512	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagaaatttaaacactggcAgatgggaaaaagtggcctgg	15	7	14	5	0	0	2	0	0	0	2	0	4	0	3	1	5	1	1	1	5	5	2			TCGA-2A-AAYU-01A-11D-A41K-08	TCGA-2A-AAYU-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3333fa05-d0eb-46bb-91af-2492f5b84e23	1695b0a1-b764-4797-83d5-4fcfed8fb4a7	g.chr4:102981512A>C	ENST00000322953.4	+	12	2388	c.2114A>C	c.(2113-2115)cAg>cCg	p.Q705P	BANK1_ENST00000504592.1_Missense_Mutation_p.Q690P|BANK1_ENST00000428908.1_Missense_Mutation_p.Q572P|BANK1_ENST00000444316.2_Missense_Mutation_p.Q675P|BANK1_ENST00000508653.1_Missense_Mutation_p.Q572P	NM_017935.4	NP_060405	Q8NDB2	BANK1_HUMAN	B-cell scaffold protein with ankyrin repeats 1	705					B cell activation (GO:0042113)					NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|liver(2)|lung(16)|ovary(2)|skin(2)|urinary_tract(1)	44		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;2.7e-07)		AAACACTGGCAGATGGGAAAA	0.433																																						ENST00000504592.1																			0				NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|liver(2)|lung(16)|ovary(2)|skin(2)|urinary_tract(1)	44						c.(2068-2070)cAg>cCg		B-cell scaffold protein with ankyrin repeats 1							89	94	92					4																	102981512		2203	4300	6503	SO:0001583	missense	55024				B cell activation			g.chr4:102981512A>C	AB063170	CCDS34038.1, CCDS47115.1, CCDS47116.1	4q23	2013-01-11						"Ankyrin repeat domain containing"	18233	protein-coding gene	gene with protein product		610292				11782428, 21208380, 21480188	Standard	NM_017935		Approved	BANK, FLJ20706	uc003hvy.4	Q8NDB2		ENST00000322953.4:c.2114A>C	4.37:g.102981512A>C	ENSP00000320509:p.Gln705Pro					BANK1_ENST00000508653.1_Missense_Mutation_p.Q572P|BANK1_ENST00000444316.2_Missense_Mutation_p.Q675P|BANK1_ENST00000428908.1_Missense_Mutation_p.Q572P|BANK1_ENST00000322953.4_Missense_Mutation_p.Q705P	p.Q690P			Q8NDB2	BANK1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;2.7e-07)	16	2487	+		Hepatocellular(203;0.217)	705					A8K7W8|B0F3S2|Q8N5K8|Q8NB56|Q8WYN5|Q9NWP2	Missense_Mutation	SNP	ENST00000322953.4	37	c.2069A>C	CCDS34038.1	.	.	.	.	.	.	.	.	.	.	A	18.82	3.706184	0.68615	.	.	ENSG00000153064	ENST00000504592;ENST00000322953;ENST00000428908;ENST00000508653;ENST00000444316	T;T;T;T;T	0.41065	1.7;1.65;1.01;1.01;1.69	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	T	0.60689	0.2288	M	0.62723	1.935	0.40395	D	0.979589	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.87578	0.997;0.997;0.998	T	0.65245	-0.6215	10	0.87932	D	0	.	12.1652	0.54125	1.0:0.0:0.0:0.0	.	572;705;690	Q8NDB2-4;Q8NDB2;Q8NDB2-2	.;BANK1_HUMAN;.	P	690;705;572;572;675	ENSP00000421443:Q690P;ENSP00000320509:Q705P;ENSP00000412748:Q572P;ENSP00000422314:Q572P;ENSP00000388817:Q675P	ENSP00000320509:Q705P	Q	+	2	0	BANK1	103200535	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	4.593000	0.61034	2.136000	0.66102	0.459000	0.35465	CAG		0.433	BANK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363161.1	NM_017935		24	37	0	0	0	1	0	24	37					C	102981512	A	C	102981512	3	2	10	1	0	0	0	0	1	0	0	0	1309	188	7	5	2160	5	BANK1	4	102981512	Missense_Mutation	SNP	A	TCGA-2A-AAYU-01A-11D-A41K-08	2855309	102981512	88172764	7	323											
YTHDC2	64848	broad.mit.edu	37	chr5	112878169	112878169	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	attgatgcctttgctcaggtCtttcatctcattttaactga	8	18	6	9	0	4	2	3	2	2	0	5	2	4	2	1	1	3	1	1	1	1	5			TCGA-2A-AAYU-01A-11D-A41K-08	TCGA-2A-AAYU-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3333fa05-d0eb-46bb-91af-2492f5b84e23	1695b0a1-b764-4797-83d5-4fcfed8fb4a7	g.chr5:112878169C>T	ENST00000161863.4	+	10	1677	c.1464C>T	c.(1462-1464)gtC>gtT	p.V488V	YTHDC2_ENST00000515883.1_Silent_p.V488V	NM_022828.3	NP_073739.3	Q9H6S0	YTDC2_HUMAN	YTH domain containing 2	488					ATP catabolic process (GO:0006200)|positive regulation by host of viral genome replication (GO:0044829)|response to interleukin-1 (GO:0070555)|response to tumor necrosis factor (GO:0034612)	endoplasmic reticulum (GO:0005783)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|RNA polymerase binding (GO:0070063)|RNA-dependent ATPase activity (GO:0008186)	p.V488V(1)		NS(2)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(13)|lung(10)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43		all_cancers(142;7.69e-05)|all_epithelial(76;6.42e-07)|Colorectal(10;0.00278)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Lung NSC(810;0.143)|all_lung(232;0.163)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;7.2e-08)|Epithelial(69;8.83e-08)|all cancers(49;6.9e-06)|COAD - Colon adenocarcinoma(37;0.0458)|Colorectal(14;0.0594)		TTGCTCAGGTCTTTCATCTCA	0.294																																						ENST00000161863.4																			1	Substitution - coding silent(1)	p.V488V(1)	lung(1)	NS(2)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(13)|lung(10)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43						c.(1462-1464)gtC>gtT		YTH domain containing 2							146	143	144					5																	112878169		2202	4299	6501	SO:0001819	synonymous_variant	64848						ATP binding|ATP-dependent helicase activity|nucleic acid binding	g.chr5:112878169C>T	AK000915	CCDS4113.1	5q22.3	2008-02-05			ENSG00000047188	ENSG00000047188			24721	protein-coding gene	gene with protein product						12477932	Standard	NM_022828		Approved	FLJ2194, FLJ10053, DKFZp564A186	uc003kqn.3	Q9H6S0	OTTHUMG00000128837	ENST00000161863.4:c.1464C>T	5.37:g.112878169C>T						YTHDC2_ENST00000515883.1_Silent_p.V488V	p.V488V	NM_022828.3	NP_073739.3	Q9H6S0	YTDC2_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;7.2e-08)|Epithelial(69;8.83e-08)|all cancers(49;6.9e-06)|COAD - Colon adenocarcinoma(37;0.0458)|Colorectal(14;0.0594)	10	1677	+		all_cancers(142;7.69e-05)|all_epithelial(76;6.42e-07)|Colorectal(10;0.00278)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Lung NSC(810;0.143)|all_lung(232;0.163)|Breast(839;0.244)	488					B2RP66	Silent	SNP	ENST00000161863.4	37	c.1464C>T	CCDS4113.1																																																																																				0.294	YTHDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250776.2	NM_022828		20	73	0	0	0	1	0	20	73					T	112878169	C	T	112878169	2	4	10	1	0	0	0	0	0	0	0	1	17494	900	32	3		3	YTHDC2	5	112878169	Silent	SNP	C	TCGA-2A-AAYU-01A-11D-A41K-08		112878169	68037091	8	324											
PCDHB1	29930	broad.mit.edu	37	chr5	140431407	140431407	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tggagccgctgcagtccttcCgggccgaggtcagggtattt	5	10	15	11	3	1	0	1	0	0	0	3	2	3	1	4	4	2	3	4	4	1	3			TCGA-2A-AAYU-01A-11D-A41K-08	TCGA-2A-AAYU-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3333fa05-d0eb-46bb-91af-2492f5b84e23	1695b0a1-b764-4797-83d5-4fcfed8fb4a7	g.chr5:140431407C>T	ENST00000306549.3	+	1	429	c.352C>T	c.(352-354)Cgg>Tgg	p.R118W		NM_013340.2	NP_037472.2	Q9Y5F3	PCDB1_HUMAN	protocadherin beta 1	118	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|liver(1)|lung(13)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	53			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCAGTCCTTCCGGGCCGAGGT	0.517																																						ENST00000306549.3																			0				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|liver(1)|lung(13)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	53						c.(352-354)Cgg>Tgg									42	47	45					5																	140431407		2203	4300	6503	SO:0001583	missense	0				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140431407C>T	AF152488	CCDS4243.1	5q31	2010-01-26			ENSG00000171815	ENSG00000171815		"Cadherins / Protocadherins : Clustered"	8680	other	protocadherin		606327				10380929	Standard	NM_013340		Approved	PCDH-BETA1	uc003lik.1	Q9Y5F3	OTTHUMG00000129627	ENST00000306549.3:c.352C>T	5.37:g.140431407C>T	ENSP00000307234:p.Arg118Trp						p.R118W	NM_013340.2	NP_037472.2	Q9Y5F3	PCDB1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	429	+			118			Cadherin 1.		Q2M257	Missense_Mutation	SNP	ENST00000306549.3	37	c.352C>T	CCDS4243.1	.	.	.	.	.	.	.	.	.	.	C	12.29	1.894536	0.33442	.	.	ENSG00000171815	ENST00000306549	T	0.53423	0.62	5.81	4.94	0.65067	Cadherin (3);Cadherin-like (1);	0.000000	0.46758	D	0.000276	T	0.58250	0.2109	M	0.81682	2.555	0.09310	N	1	D	0.71674	0.998	P	0.50791	0.65	T	0.59354	-0.7470	10	0.87932	D	0	.	10.5575	0.45125	0.2617:0.6102:0.1282:0.0	.	118	Q9Y5F3	PCDB1_HUMAN	W	118	ENSP00000307234:R118W	ENSP00000307234:R118W	R	+	1	2	PCDHB1	140411591	0.000000	0.05858	0.962000	0.40283	0.764000	0.43329	-0.008000	0.12788	1.464000	0.47987	0.655000	0.94253	CGG		0.517	PCDHB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251822.2	NM_013340		15	40	0	0	0	1	0	15	40					T	140431407	C	T	140431407	3	4	10	1	0	0	0	0	1	0	0	0	11534	643	23	2	354	2	PCDHB1	5	140431407	Missense_Mutation	SNP	C	TCGA-2A-AAYU-01A-11D-A41K-08	27553238	140431407	40483853	9	325											
PCDH12	51294	broad.mit.edu	37	chr5	141335501	141335501	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggtgggcttcatttccactgCggatgctgtagaggggctct	5	12	15	9	1	2	1	1	0	1	1	3	2	3	2	1	5	2	4	1	5	1	3			TCGA-2A-AAYU-01A-11D-A41K-08	TCGA-2A-AAYU-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3333fa05-d0eb-46bb-91af-2492f5b84e23	1695b0a1-b764-4797-83d5-4fcfed8fb4a7	g.chr5:141335501C>T	ENST00000231484.3	-	1	3126	c.1916G>A	c.(1915-1917)cGc>cAc	p.R639H	AC005740.6_ENST00000607378.1_RNA|PCDH12_ENST00000512221.1_5'Flank	NM_016580.2	NP_057664.1	Q9NPG4	PCD12_HUMAN	protocadherin 12	639	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|glycogen metabolic process (GO:0005977)|homophilic cell adhesion (GO:0007156)|labyrinthine layer development (GO:0060711)|neuron recognition (GO:0008038)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(3)|prostate(2)|skin(1)	38		all_hematologic(541;0.0999)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATTTCCACTGCGGATGCTGTA	0.567																																						ENST00000231484.3																			0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(3)|prostate(2)|skin(1)	38						c.(1915-1917)cGc>cAc		protocadherin 12							74	67	70					5																	141335501		2203	4300	6503	SO:0001583	missense	51294				neuron recognition	integral to plasma membrane	calcium ion binding	g.chr5:141335501C>T	AF231025	CCDS4269.1	5q31.3	2010-01-26			ENSG00000113555	ENSG00000113555		"Cadherins / Protocadherins : Non-clustered"	8657	protein-coding gene	gene with protein product		605622				10716726, 10380929	Standard	NM_016580		Approved	VE-cadherin-2	uc003llx.3	Q9NPG4	OTTHUMG00000129658	ENST00000231484.3:c.1916G>A	5.37:g.141335501C>T	ENSP00000231484:p.Arg639His						p.R639H	NM_016580.2	NP_057664.1	Q9NPG4	PCD12_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	3126	-		all_hematologic(541;0.0999)	639			Cadherin 6.		Q6UXB6|Q96KB8|Q9H7Y6|Q9H8E0	Missense_Mutation	SNP	ENST00000231484.3	37	c.1916G>A	CCDS4269.1	.	.	.	.	.	.	.	.	.	.	C	8.900	0.956043	0.18507	.	.	ENSG00000113555	ENST00000231484	T	0.51817	0.69	5.38	-0.497	0.12023	Cadherin (4);Cadherin-like (1);	0.691899	0.14591	N	0.310280	T	0.34513	0.0900	L	0.45352	1.415	0.09310	N	1	D	0.53151	0.958	B	0.43360	0.417	T	0.21008	-1.0258	10	0.32370	T	0.25	.	5.5187	0.16921	0.0:0.3641:0.1455:0.4904	.	639	Q9NPG4	PCD12_HUMAN	H	639	ENSP00000231484:R639H	ENSP00000231484:R639H	R	-	2	0	PCDH12	141315685	0.000000	0.05858	0.002000	0.10522	0.039000	0.13416	-0.161000	0.10026	0.002000	0.14630	0.655000	0.94253	CGC		0.567	PCDH12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251858.1	NM_016580		15	34	0	0	0	1	0	15	34					T	141335501	C	T	141335501	3	4	10	1	0	0	0	0	1	0	0	0	11510	768	27	1	1654	1	PCDH12	5	141335501	Missense_Mutation	SNP	C	TCGA-2A-AAYU-01A-11D-A41K-08	904094	141335501	39579759	10	326											
SYNPO	11346	broad.mit.edu	37	chr5	150027814	150027814	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	accccagtccccagagccccGacagaggggtccctggccac	8	3	11	19	1	0	2	0	0	0	2	2	3	2	2	8	3	1	0	8	3	0	0	rs78583075	byFrequency	TCGA-2A-AAYU-01A-11D-A41K-08	TCGA-2A-AAYU-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3333fa05-d0eb-46bb-91af-2492f5b84e23	1695b0a1-b764-4797-83d5-4fcfed8fb4a7	g.chr5:150027814G>A	ENST00000394243.1	+	3	1083	c.709G>A	c.(709-711)Gac>Aac	p.D237N	SYNPO_ENST00000519664.1_5'UTR|SYNPO_ENST00000522122.1_Missense_Mutation_p.D237N|SYNPO_ENST00000307662.4_5'UTR|SYNPO_ENST00000518872.1_Intron	NM_001166208.1	NP_001159680.1	Q8N3V7	SYNPO_HUMAN	synaptopodin	237					positive regulation of actin filament bundle assembly (GO:0032233)|regulation of stress fiber assembly (GO:0051492)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|postsynaptic membrane (GO:0045211)|stress fiber (GO:0001725)|tight junction (GO:0005923)	actin binding (GO:0003779)			NS(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(4)|prostate(1)|urinary_tract(2)	18		Medulloblastoma(196;0.134)|all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CCAGAGCCCCGACAGAGGGGT	0.672													G|||	10	0.00199681	0	0	5008	,	,		16630	0.0099		0	False		,,,				2504	0					ENST00000394243.1																			0				NS(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(4)|prostate(1)|urinary_tract(2)	18						c.(709-711)Gac>Aac		synaptopodin		G	,ASN/ASP,ASN/ASP,	1,4403		0,1,2201	25	32	30		,709,709,	0.7	0	5	dbSNP_131	30	0,8600		0,0,4300	yes	utr-5,missense,missense,utr-5	SYNPO	NM_001109974.2,NM_001166208.1,NM_001166209.1,NM_007286.5	,23,23,	0,1,6501	AA,AG,GG		0.0,0.0227,0.0077	,,,	,237/930,237/930,	150027814	1,13003	2202	4300	6502	SO:0001583	missense	11346				positive regulation of actin filament bundle assembly|regulation of stress fiber assembly	actin cytoskeleton|cytoplasm|dendritic spine|perikaryon|postsynaptic density|postsynaptic membrane|tight junction	actin binding|protein binding	g.chr5:150027814G>A	AF499137	CCDS4308.1, CCDS54937.1, CCDS54938.1	5q33.1	2008-02-05			ENSG00000171992	ENSG00000171992			30672	protein-coding gene	gene with protein product		608155				9314539, 10470851	Standard	NM_007286		Approved	KIAA1029	uc003lsn.3	Q8N3V7	OTTHUMG00000130078	ENST00000394243.1:c.709G>A	5.37:g.150027814G>A	ENSP00000377789:p.Asp237Asn					SYNPO_ENST00000518872.1_Intron|SYNPO_ENST00000307662.4_5'UTR|SYNPO_ENST00000519664.1_5'UTR|SYNPO_ENST00000522122.1_Missense_Mutation_p.D237N	p.D237N	NM_001166208.1	NP_001159680.1	Q8N3V7	SYNPO_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		3	1083	+		Medulloblastoma(196;0.134)|all_hematologic(541;0.224)	237					A5PKZ8|D3DQG8|O15271|Q9UPX1	Missense_Mutation	SNP	ENST00000394243.1	37	c.709G>A	CCDS54937.1	5	0.0022893772893772895	0	0.0	0	0.0	5	0.008741258741258742	0	0.0	G	11.40	1.627317	0.28978	2.27E-4	0.0	ENSG00000171992	ENST00000394243;ENST00000522122	T;T	0.23754	1.89;1.89	5.16	0.687	0.18020	.	1.765110	0.03141	N	0.166609	T	0.10809	0.0264	N	0.24115	0.695	0.09310	N	0.999992	B	0.06786	0.001	B	0.04013	0.001	T	0.14008	-1.0488	10	0.20046	T	0.44	0.0715	1.0321	0.01540	0.3139:0.1501:0.3824:0.1535	.	237	Q8N3V7	SYNPO_HUMAN	N	237	ENSP00000377789:D237N;ENSP00000428378:D237N	ENSP00000377789:D237N	D	+	1	0	SYNPO	150008007	0.002000	0.14202	0.012000	0.15200	0.674000	0.39518	0.878000	0.28126	-0.183000	0.10585	-0.258000	0.10820	GAC		0.672	SYNPO-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252371.1	NM_007286		11	18	0	0	0	1	0	11	18					A	150027814	G	A	150027814	3	1	10	1	0	0	0	0	1	0	0	0	15453	1058	37	2	715	2	SYNPO	5	150027814	Missense_Mutation	SNP	G	TCGA-2A-AAYU-01A-11D-A41K-08	8692313	150027814	30887446	11	327											
ODZ2	57451	broad.mit.edu	37	chr5	167420005	167420005	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgttcagcagctcttcccCgggataccctttgacctcag	6	12	8	15	1	3	1	2	1	1	0	4	2	4	2	4	1	3	3	4	1	1	5			TCGA-2A-AAYU-01A-11D-A41K-08	TCGA-2A-AAYU-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3333fa05-d0eb-46bb-91af-2492f5b84e23	1695b0a1-b764-4797-83d5-4fcfed8fb4a7	g.chr5:167420005C>T	ENST00000518659.1	+	5	1043	c.1004C>T	c.(1003-1005)cCg>cTg	p.P335L	TENM2_ENST00000545108.1_Missense_Mutation_p.P335L|TENM2_ENST00000519204.1_Missense_Mutation_p.P214L|TENM2_ENST00000520393.1_3'UTR|TENM2_ENST00000403607.2_Missense_Mutation_p.P168L|TENM2_ENST00000520394.1_Missense_Mutation_p.P144L	NM_001122679.1	NP_001116151.1	Q9NT68	TEN2_HUMAN	teneurin transmembrane protein 2	335	Teneurin N-terminal. {ECO:0000255|PROSITE-ProRule:PRU00694}.				axon guidance (GO:0007411)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|heterophilic cell-cell adhesion (GO:0007157)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of filopodium assembly (GO:0051491)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cell-cell junction (GO:0005911)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|endoplasmic reticulum (GO:0005783)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)										AGCTCTTCCCCGGGATACCCT	0.577																																						ENST00000519204.1																			0											c.(640-642)cCg>cTg		teneurin transmembrane protein 2							83	84	84					5																	167420005		1920	4124	6044	SO:0001583	missense	57451							g.chr5:167420005C>T	AB032953		5q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000145934	ENSG00000145934			29943	protein-coding gene	gene with protein product		610119	"odz, odd Oz/ten-m homolog 2 (Drosophila)"	ODZ2		10625539	Standard	NM_001122679		Approved	KIAA1127, Ten-M2	uc010jjd.3	Q9NT68	OTTHUMG00000162928	ENST00000518659.1:c.1004C>T	5.37:g.167420005C>T	ENSP00000429430:p.Pro335Leu					TENM2_ENST00000520393.1_3'UTR|TENM2_ENST00000545108.1_Missense_Mutation_p.P335L|TENM2_ENST00000403607.2_Missense_Mutation_p.P168L|TENM2_ENST00000518659.1_Missense_Mutation_p.P335L|TENM2_ENST00000520394.1_Missense_Mutation_p.P144L	p.P214L							4	759	+								Q9ULU2	Missense_Mutation	SNP	ENST00000518659.1	37	c.641C>T		.	.	.	.	.	.	.	.	.	.	C	35	5.481324	0.96307	.	.	ENSG00000145934	ENST00000518659;ENST00000545108;ENST00000519204;ENST00000520394;ENST00000403607	T;T;T;T;T	0.50813	0.73;0.73;0.73;0.73;0.73	5.74	5.74	0.90152	Teneurin intracellular, N-terminal (2);	0.000000	0.85682	D	0.000000	T	0.68522	0.3010	M	0.62723	1.935	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.996;0.994	T	0.67585	-0.5633	10	0.54805	T	0.06	.	19.9403	0.97159	0.0:1.0:0.0:0.0	.	335;144;214	Q9NT68;F8VNQ3;G3V106	TEN2_HUMAN;.;.	L	335;335;214;144;168	ENSP00000429430:P335L;ENSP00000438635:P335L;ENSP00000428964:P214L;ENSP00000427874:P144L;ENSP00000384905:P168L	ENSP00000384905:P168L	P	+	2	0	ODZ2	167352583	1.000000	0.71417	0.957000	0.39632	0.935000	0.57460	7.818000	0.86416	2.712000	0.92718	0.650000	0.86243	CCG		0.577	TENM2-001	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000376096.1	NM_001122679		6	62	0	0	0	1	0	6	62					T	167420005	C	T	167420005	3	4	10	1	0	0	0	0	1	0	0	0	10835	652	23	2	1022	2	ODZ2	5	167420005	Missense_Mutation	SNP	C	TCGA-2A-AAYU-01A-11D-A41K-08	17392191	167420005	13495255	12	328											
DAXX	1616	broad.mit.edu	37	chr6	33287453	33287453	+	Frame_Shift_Del	DEL	A	A	-																															agctcctcaggctgttctccAttgctttcagcatctatgct																										TCGA-2A-AAYU-01A-11D-A41K-08	TCGA-2A-AAYU-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3333fa05-d0eb-46bb-91af-2492f5b84e23	1695b0a1-b764-4797-83d5-4fcfed8fb4a7	g.chr6:33287453delA	ENST00000374542.5	-	6	1848	c.1644delT	c.(1642-1644)aatfs	p.N548fs	ZBTB22_ENST00000418724.1_5'Flank|ZBTB22_ENST00000431845.2_5'Flank|DAXX_ENST00000477162.1_5'UTR|DAXX_ENST00000414083.2_Frame_Shift_Del_p.N473fs|DAXX_ENST00000266000.6_Frame_Shift_Del_p.N548fs	NM_001141969.1|NM_001141970.1|NM_001350.4	NP_001135441.1|NP_001135442.1|NP_001341.1	Q9UER7	DAXX_HUMAN	death-domain associated protein	548	Asp/Glu-rich (acidic).|Interaction with MAP3K5.|Necessary for interaction with USP7.				activation of JUN kinase activity (GO:0007257)|androgen receptor signaling pathway (GO:0030521)|apoptotic process (GO:0006915)|chromatin remodeling (GO:0006338)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|mitotic cytokinesis (GO:0000281)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of neuron death (GO:1901216)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein phosphorylation (GO:0001934)|regulation of protein ubiquitination (GO:0031396)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|heterochromatin (GO:0000792)|nucleus (GO:0005634)|PML body (GO:0016605)|SWI/SNF superfamily-type complex (GO:0070603)	androgen receptor binding (GO:0050681)|enzyme binding (GO:0019899)|heat shock protein binding (GO:0031072)|histone binding (GO:0042393)|p53 binding (GO:0002039)|protein homodimerization activity (GO:0042803)|protein kinase activator activity (GO:0030295)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|receptor signaling protein activity (GO:0005057)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(2)|lung(7)|ovary(3)|pancreas(18)|prostate(3)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	55						GCTGTTCTCCATTGCTTTCAG	0.532			"Mis, F, N"		Pancreatic neuroendocrine tumors. Paediatric GBM																																	ENST00000374542.5				Rec	yes		6	6p21.3	1616	"Mis, F, N"	death-domain associated protein			E			Pancreatic neuroendocrine tumors. Paediatric GBM		0				breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(2)|lung(7)|ovary(3)|pancreas(18)|prostate(3)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	55						c.(1642-1644)aafs		death-domain associated protein							103	96	98					6																	33287453		2203	4300	6503	SO:0001589	frameshift_variant	1616				activation of JUN kinase activity|androgen receptor signaling pathway|apoptosis|induction of apoptosis via death domain receptors|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|regulation of protein ubiquitination|transcription, DNA-dependent	chromosome, centromeric region|cytosol|nucleolus|PML body	androgen receptor binding|heat shock protein binding|p53 binding|protein homodimerization activity|protein N-terminus binding|receptor signaling protein activity|transcription factor binding|ubiquitin protein ligase binding	g.chr6:33287453delA	AF006041	CCDS4776.1, CCDS59008.1	6p21.3	2008-08-29	2008-08-29			ENSG00000204209			2681	protein-coding gene	gene with protein product		603186	"death-associated protein 6"			9407001, 9215629	Standard	NM_001141970		Approved	DAP6	uc011dre.2	Q9UER7		ENST00000374542.5:c.1644delT	6.37:g.33287453delA	ENSP00000363668:p.Asn548fs					DAXX_ENST00000266000.6_Frame_Shift_Del_p.N548fs|DAXX_ENST00000477162.1_5'UTR|DAXX_ENST00000414083.2_Frame_Shift_Del_p.N473fs	p.N548fs	NM_001141969.1|NM_001141970.1|NM_001350.4	NP_001135441.1|NP_001135442.1|NP_001341.1	Q9UER7	DAXX_HUMAN			6	1848	-			548			Asp/Glu-rich (acidic).|Interaction with MAP3K5.|Necessary for interaction with USP7.		B4E1I3|F5H082|O14747|O15141|O15208|Q5STK9|Q9BWI3	Frame_Shift_Del	DEL	ENST00000374542.5	37	c.1644delT	CCDS4776.1																																																																																				0.532	DAXX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076403.1			35	103						35	103	---	---	---	---	-	33287453	A	-	33287453	7	5	10	1	0	1	0	1	0	0	0	0	4243	214	8	0	590	0	DAXX	6	33287453	Frame_Shift_Del	DEL	A	TCGA-2A-AAYU-01A-11D-A41K-08		33287453	137827614	13	329											
KIF6	221458	broad.mit.edu	37	chr6	39507801	39507801	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	attttcttgtggagcaaactGgatcttttccccaaaatgct	10	15	7	9	0	2	0	0	0	2	0	3	2	3	2	2	2	3	2	2	2	3	5			TCGA-2A-AAYU-01A-11D-A41K-08	TCGA-2A-AAYU-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3333fa05-d0eb-46bb-91af-2492f5b84e23	1695b0a1-b764-4797-83d5-4fcfed8fb4a7	g.chr6:39507801G>A	ENST00000287152.7	-	13	1717	c.1623C>T	c.(1621-1623)tcC>tcT	p.S541S	KIF6_ENST00000538893.1_Intron|KIF6_ENST00000373213.4_Silent_p.S380S|KIF6_ENST00000373215.3_Silent_p.S541S|KIF6_ENST00000373216.3_Silent_p.S541S	NM_145027.4	NP_659464.3	Q6ZMV9	KIF6_HUMAN	kinesin family member 6	541					ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|male germ cell nucleus (GO:0001673)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(16)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						GGAGCAAACTGGATCTTTTCC	0.448																																						ENST00000287152.7																			0				breast(2)|central_nervous_system(1)|endometrium(1)|kidney(16)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						c.(1621-1623)tcC>tcT		kinesin family member 6							186	195	192					6																	39507801		2203	4300	6503	SO:0001819	synonymous_variant	221458				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein binding	g.chr6:39507801G>A	AL832634	CCDS4844.1, CCDS75449.1	6p21.2	2010-03-30			ENSG00000164627	ENSG00000164627		"Kinesins"	21202	protein-coding gene	gene with protein product		613919	"chromosome 6 open reading frame 102"	C6orf102			Standard	NM_145027		Approved	dJ1043E3.1, MGC33317, dJ137F1.4, dJ188D3.1, DKFZp451I2418	uc003oot.2	Q6ZMV9	OTTHUMG00000014648	ENST00000287152.7:c.1623C>T	6.37:g.39507801G>A						KIF6_ENST00000373213.4_Silent_p.S380S|KIF6_ENST00000373215.3_Silent_p.S541S|KIF6_ENST00000373216.3_Silent_p.S541S|KIF6_ENST00000538893.1_Intron	p.S541S	NM_145027.4	NP_659464.3	Q6ZMV9	KIF6_HUMAN			13	1717	-			541					Q2MDE3|Q2MDE4|Q5T8J6|Q6ZWE3|Q86T87|Q8WTV4	Silent	SNP	ENST00000287152.7	37	c.1623C>T	CCDS4844.1	.	.	.	.	.	.	.	.	.	.	G	2.955	-0.215802	0.06101	.	.	ENSG00000164627	ENST00000458470	.	.	.	6.04	4.05	0.47172	.	.	.	.	.	T	0.42154	0.1190	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.43686	-0.9376	4	.	.	.	.	6.0312	0.19681	0.2474:0.0:0.7526:0.0	.	.	.	.	L	433	.	.	P	-	2	0	KIF6	39615779	1.000000	0.71417	1.000000	0.80357	0.174000	0.22865	3.141000	0.50593	1.573000	0.49748	0.563000	0.77884	CCA		0.448	KIF6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040455.2	NM_145027		46	89	0	0	0	1	0	46	89					A	39507801	G	A	39507801	2	1	10	1	0	0	0	0	0	0	0	1	8308	1335	47	3		3	KIF6	6	39507801	Silent	SNP	G	TCGA-2A-AAYU-01A-11D-A41K-08	6220348	39507801	131607266	14	330											
ZNF498	221785	broad.mit.edu	37	chr7	99217449	99217449	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtcgtcggtggctgaggcccGagttgcacaccaaggagcag	8	6	16	11	3	0	1	0	1	0	0	2	3	0	2	2	4	2	4	2	4	1	1			TCGA-2A-AAYU-01A-11D-A41K-08	TCGA-2A-AAYU-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3333fa05-d0eb-46bb-91af-2492f5b84e23	1695b0a1-b764-4797-83d5-4fcfed8fb4a7	g.chr7:99217449G>A	ENST00000394152.2	+	4	547	c.220G>A	c.(220-222)Gag>Aag	p.E74K	ZSCAN25_ENST00000334715.3_Missense_Mutation_p.E74K|ZSCAN25_ENST00000262941.6_Missense_Mutation_p.E74K|ZSCAN25_ENST00000466948.1_3'UTR	NM_145115.2	NP_660090.2	Q6NSZ9	ZSC25_HUMAN	zinc finger and SCAN domain containing 25	74	SCAN box. {ECO:0000255|PROSITE- ProRule:PRU00187}.				transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)										GCTGAGGCCCGAGTTGCACAC	0.627																																						ENST00000394152.2																			0											c.(220-222)Gag>Aag		zinc finger and SCAN domain containing 25							64	70	68					7																	99217449		2203	4300	6503	SO:0001583	missense	221785							g.chr7:99217449G>A	AK057030	CCDS5671.2	7q22.1	2013-01-09	2013-01-09	2013-01-09	ENSG00000197037	ENSG00000197037		"-", "Zinc fingers, C2H2-type"	21961	protein-coding gene	gene with protein product			"zinc finger protein 498"	ZNF498		11179890	Standard	XM_005250194		Approved	FLJ32468	uc003url.1	Q6NSZ9	OTTHUMG00000074055	ENST00000394152.2:c.220G>A	7.37:g.99217449G>A	ENSP00000377708:p.Glu74Lys					ZSCAN25_ENST00000262941.6_Missense_Mutation_p.E74K|ZSCAN25_ENST00000466948.1_3'UTR|ZSCAN25_ENST00000334715.3_Missense_Mutation_p.E74K	p.E74K	NM_145115.2	NP_660090.2					4	547	+								A4D290|D6W5T5|Q14C82|Q14C99|Q5EBM9|Q6DJZ0|Q6N032|Q6ZML3	Missense_Mutation	SNP	ENST00000394152.2	37	c.220G>A	CCDS5671.2	.	.	.	.	.	.	.	.	.	.	G	15.65	2.895256	0.52121	.	.	ENSG00000197037	ENST00000394152;ENST00000334715;ENST00000262941	T;T;T	0.07216	3.21;3.21;3.21	4.14	4.14	0.48551	Retrovirus capsid, C-terminal (1);Transcription regulator SCAN (3);	0.000000	0.44285	D	0.000462	T	0.27349	0.0671	M	0.77712	2.385	0.32247	N	0.571959	D;D	0.89917	0.996;1.0	P;D	0.74348	0.859;0.983	T	0.21042	-1.0257	10	0.87932	D	0	-30.7727	12.243	0.54553	0.0:0.0:1.0:0.0	.	74;74	Q6NSZ9-2;Q6NSZ9	.;ZN498_HUMAN	K	74	ENSP00000377708:E74K;ENSP00000334800:E74K;ENSP00000262941:E74K	ENSP00000262941:E74K	E	+	1	0	ZNF498	99055385	0.020000	0.18652	0.950000	0.38849	0.113000	0.19764	1.138000	0.31491	2.595000	0.87683	0.655000	0.94253	GAG		0.627	ZSCAN25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157203.4	NM_145115		37	75	0	0	0	1	0	37	75					A	99217449	G	A	99217449	3	1	10	1	0	0	0	0	1	0	0	0	17944	1059	37	2	222	2	ZNF498	7	99217449	Missense_Mutation	SNP	G	TCGA-2A-AAYU-01A-11D-A41K-08		99217449	59921214	15	331											
PRSS1	5644	broad.mit.edu	37	chr7	142459851	142459851	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcacgaagtgcctcatctctGgctggggcaacactgcgagc	8	7	13	13	2	2	0	1	0	1	0	3	2	2	0	1	3	4	3	1	3	2	0			TCGA-2A-AAYU-01A-11D-A41K-08	TCGA-2A-AAYU-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3333fa05-d0eb-46bb-91af-2492f5b84e23	1695b0a1-b764-4797-83d5-4fcfed8fb4a7	g.chr7:142459851G>A	ENST00000311737.7	+	3	433	c.427G>A	c.(427-429)Ggc>Agc	p.G143S	PRSS1_ENST00000486171.1_Missense_Mutation_p.G157S	NM_002769.4	NP_002760.1	P07477	TRY1_HUMAN	protease, serine, 1 (trypsin 1)	143	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				cobalamin metabolic process (GO:0009235)|digestion (GO:0007586)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(24)|prostate(2)	38	Melanoma(164;0.047)	all_cancers(3;2.14e-49)|Acute lymphoblastic leukemia(3;7.3e-185)|all_hematologic(3;1.1e-165)	all cancers(2;0.000126)|Colorectal(2;0.000157)|Epithelial(2;0.000191)|COAD - Colon adenocarcinoma(2;0.00189)		Aprotinin(DB06692)	CCTCATCTCTGGCTGGGGCAA	0.567																																						ENST00000486171.1																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(24)|prostate(2)	38						c.(469-471)Ggc>Agc		protease, serine, 1 (trypsin 1)							68	71	70					7																	142459851		2203	4300	6503	SO:0001583	missense	5644				digestion|proteolysis	extracellular space	metal ion binding|protein binding|serine-type endopeptidase activity	g.chr7:142459851G>A	M22612	CCDS5872.1	7q34	2012-10-02			ENSG00000204983	ENSG00000204983	3.4.21.4	"Serine peptidases / Serine peptidases"	9475	protein-coding gene	gene with protein product		276000		TRY1			Standard	NM_002769		Approved		uc003wak.2	P07477	OTTHUMG00000158923	ENST00000311737.7:c.427G>A	7.37:g.142459851G>A	ENSP00000308720:p.Gly143Ser					PRSS1_ENST00000311737.7_Missense_Mutation_p.G143S	p.G157S			P07477	TRY1_HUMAN	all cancers(2;0.000126)|Colorectal(2;0.000157)|Epithelial(2;0.000191)|COAD - Colon adenocarcinoma(2;0.00189)		4	486	+	Melanoma(164;0.047)	all_cancers(3;2.14e-49)|Acute lymphoblastic leukemia(3;7.3e-185)|all_hematologic(3;1.1e-165)	143			Peptidase S1.		A1A509|A6NJ71|B2R5I5|Q5NV57|Q7M4N3|Q7M4N4|Q92955|Q9HAN4|Q9HAN5|Q9HAN6|Q9HAN7	Missense_Mutation	SNP	ENST00000311737.7	37	c.469G>A	CCDS5872.1	.	.	.	.	.	.	.	.	.	.	G	17.91	3.504313	0.64410	.	.	ENSG00000204983	ENST00000486171;ENST00000311737;ENST00000529243;ENST00000492062	D;D;D	0.99532	-6.1;-6.1;-4.11	3.28	3.28	0.37604	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.85682	D	0.000000	D	0.99837	0.9926	H	0.99794	4.785	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.96236	0.9172	10	0.87932	D	0	.	14.0086	0.64481	0.0:0.0:1.0:0.0	.	157;143	E7EQ64;P07477	.;TRY1_HUMAN	S	157;143;133;93	ENSP00000417854:G157S;ENSP00000308720:G143S;ENSP00000419912:G93S	ENSP00000308720:G143S	G	+	1	0	PRSS1	142139425	1.000000	0.71417	0.996000	0.52242	0.031000	0.12232	9.680000	0.98651	1.789000	0.52484	0.398000	0.26397	GGC		0.567	PRSS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352538.2			11	44	0	0	0	1	0	11	44					A	142459851	G	A	142459851	3	1	10	1	0	0	0	0	1	0	0	0	12614	1348	47	3	437	3	PRSS1	7	142459851	Missense_Mutation	SNP	G	TCGA-2A-AAYU-01A-11D-A41K-08	43242402	142459851	16678812	16	332											
SLC4A2	6522	broad.mit.edu	37	chr7	150773114	150773114	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccccaggtccggaccctccgTatgcacctgttcacggccct	5	8	9	19	3	1	0	1	0	0	0	3	1	3	1	7	3	1	3	7	3	1	2			TCGA-2A-AAYU-01A-11D-A41K-08	TCGA-2A-AAYU-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3333fa05-d0eb-46bb-91af-2492f5b84e23	1695b0a1-b764-4797-83d5-4fcfed8fb4a7	g.chr7:150773114T>C	ENST00000485713.1	+	22	4526	c.3486T>C	c.(3484-3486)cgT>cgC	p.R1162R	RP11-148K1.12_ENST00000485974.1_RNA|FASTK_ENST00000489884.1_5'Flank|SLC4A2_ENST00000461735.1_Silent_p.R1148R|SLC4A2_ENST00000310317.5_Silent_p.R1080R|SLC4A2_ENST00000413384.2_Silent_p.R1162R|SLC4A2_ENST00000392826.2_Silent_p.R1153R	NM_001199692.1	NP_001186621.1	P04920	B3A2_HUMAN	solute carrier family 4 (anion exchanger), member 2	1162	Membrane (anion exchange).				anion transport (GO:0006820)|bicarbonate transport (GO:0015701)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	anion transmembrane transporter activity (GO:0008509)|chloride transmembrane transporter activity (GO:0015108)|inorganic anion exchanger activity (GO:0005452)			NS(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(14)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	33			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GGACCCTCCGTATGCACCTGT	0.652																																						ENST00000485713.1																			0				NS(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(14)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	33						c.(3484-3486)cgT>cgC		solute carrier family 4 (anion exchanger), member 2							62	62	62					7																	150773114		2203	4299	6502	SO:0001819	synonymous_variant	6522				bicarbonate transport	integral to membrane|membrane fraction	inorganic anion exchanger activity	g.chr7:150773114T>C		CCDS5917.1, CCDS56520.1, CCDS56521.1	7q36.1	2013-07-19	2013-07-19		ENSG00000164889	ENSG00000164889		"Solute carriers"	11028	protein-coding gene	gene with protein product	"anion exchanger 2 type a", "anion exchanger 2 type b1", "anion exchanger 2 type b2"	109280	"erythrocyte membrane protein band 3-like 1", "solute carrier family 4, anion exchanger, member 2 (erythrocyte membrane protein band 3-like 1)"	EPB3L1, AE2		8434259	Standard	NM_003040		Approved	HKB3, BND3L, NBND3	uc003wit.4	P04920	OTTHUMG00000158443	ENST00000485713.1:c.3486T>C	7.37:g.150773114T>C						SLC4A2_ENST00000310317.5_Silent_p.R1080R|RP11-148K1.12_ENST00000485974.1_RNA|SLC4A2_ENST00000392826.2_Silent_p.R1153R|SLC4A2_ENST00000413384.2_Silent_p.R1162R|SLC4A2_ENST00000461735.1_Silent_p.R1148R	p.R1162R	NM_001199692.1	NP_001186621.1	P04920	B3A2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	22	4526	+			1162			Membrane (anion exchange).		B2R6T0|B4DIT0|D3DX05|F8W682|Q45EY5|Q969L3	Silent	SNP	ENST00000485713.1	37	c.3486T>C	CCDS5917.1																																																																																				0.652	SLC4A2-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000351039.1	NM_003040		19	27	0	0	0	1	0	19	27					C	150773114	T	C	150773114	2	2	10	1	0	0	0	0	0	0	0	1	14654	1625	57	4		4	SLC4A2	7	150773114	Silent	SNP	T	TCGA-2A-AAYU-01A-11D-A41K-08	8313263	150773114	8365549	17	333											
RP1L1	94137	broad.mit.edu	37	chr8	10465053	10465053	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctggctgggcctccccttcTgcctctggggcctctacacc	2	11	10	18	0	4	0	0	0	4	0	5	0	5	0	6	4	2	1	6	4	1	2			TCGA-2A-AAYU-01A-11D-A41K-08	TCGA-2A-AAYU-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3333fa05-d0eb-46bb-91af-2492f5b84e23	1695b0a1-b764-4797-83d5-4fcfed8fb4a7	g.chr8:10465053T>A	ENST00000382483.3	-	4	6778	c.6555A>T	c.(6553-6555)gcA>gcT	p.A2185A		NM_178857.5	NP_849188.4	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	2265	25 X 16 AA approximate tandem repeats of [ED]-[AT]-[PQ]-[ED]-[AVT]-E-[GKE]-[ED]- [AMT]-Q-[EPK]-[EAT]-[TSELP]-[EG]- [EGSQDI]-[AVIE].				cell projection organization (GO:0030030)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|visual perception (GO:0007601)	axoneme (GO:0005930)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|photoreceptor connecting cilium (GO:0032391)|photoreceptor outer segment (GO:0001750)				breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		CCTCCCCTTCTGCCTCTGGGG	0.607																																						ENST00000382483.3																			0				breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148						c.(6553-6555)gcA>gcT		retinitis pigmentosa 1-like 1							167	180	176					8																	10465053		1870	4104	5974	SO:0001819	synonymous_variant	94137				intracellular signal transduction			g.chr8:10465053T>A	AY168346	CCDS43708.1	8p23.1	2011-12-06			ENSG00000183638	ENSG00000183638			15946	protein-coding gene	gene with protein product		608581				12634863	Standard	NM_178857		Approved	DCDC4B	uc003wtc.3	Q8IWN7	OTTHUMG00000163806	ENST00000382483.3:c.6555A>T	8.37:g.10465053T>A							p.A2185A	NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN		COAD - Colon adenocarcinoma(149;0.0811)	4	6778	-			2185					Q86SQ1|Q8IWN8|Q8IWN9|Q8IWP0|Q8IWP1|Q8IWP2	Silent	SNP	ENST00000382483.3	37	c.6555A>T	CCDS43708.1																																																																																				0.607	RP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375673.1			4	128	0	0	0	1	0	4	128					A	10465053	T	A	10465053	2	1	10	1	0	0	0	0	0	0	0	1	13533	1567	55	5		5	RP1L1	8	10465053	Silent	SNP	T	TCGA-2A-AAYU-01A-11D-A41K-08		10465053	135898969	18	334											
RUNX1T1	862	broad.mit.edu	37	chr8	93017508	93017508	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cagtggaggagctcacgctgCagcaggggcaagttggcctg	8	6	17	10	1	1	0	1	0	0	0	1	2	1	2	1	5	3	6	1	5	1	1			TCGA-2A-AAYU-01A-11D-A41K-08	TCGA-2A-AAYU-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3333fa05-d0eb-46bb-91af-2492f5b84e23	1695b0a1-b764-4797-83d5-4fcfed8fb4a7	g.chr8:93017508C>G	ENST00000523629.1	-	6	1030	c.576G>C	c.(574-576)ctG>ctC	p.L192L	RUNX1T1_ENST00000422361.2_Silent_p.L155L|RUNX1T1_ENST00000265814.3_Silent_p.L192L|RUNX1T1_ENST00000520724.1_Silent_p.L155L|RUNX1T1_ENST00000518844.1_Silent_p.L165L|RUNX1T1_ENST00000360348.2_Silent_p.L155L|RUNX1T1_ENST00000436581.2_Silent_p.L203L|RUNX1T1_ENST00000521553.1_Silent_p.L155L|RUNX1T1_ENST00000396218.1_Silent_p.L165L	NM_001198626.1|NM_001198630.1|NM_001198633.1|NM_175634.2	NP_001185555.1|NP_001185559.1|NP_001185562.1|NP_783552.1	Q06455	MTG8_HUMAN	runt-related transcription factor 1; translocated to, 1 (cyclin D-related)	192	TAFH. {ECO:0000255|PROSITE- ProRule:PRU00440}.				fat cell differentiation (GO:0045444)|generation of precursor metabolites and energy (GO:0006091)|regulation of DNA binding (GO:0051101)|transcription, DNA-templated (GO:0006351)	nuclear matrix (GO:0016363)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	86			BRCA - Breast invasive adenocarcinoma(11;0.0141)			GCTCACGCTGCAGCAGGGGCA	0.552																																						ENST00000523629.1																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	86						c.(574-576)ctG>ctC		runt-related transcription factor 1; translocated to, 1 (cyclin D-related)							105	85	92					8																	93017508		2203	4300	6503	SO:0001819	synonymous_variant	862				generation of precursor metabolites and energy	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:93017508C>G	D43638	CCDS6256.1, CCDS6257.1, CCDS47891.1, CCDS56544.1, CCDS75766.1, CCDS75767.1	8q22	2007-01-29	2005-01-20	2005-01-22	ENSG00000079102	ENSG00000079102		"Zinc fingers, MYND-type"	1535	protein-coding gene	gene with protein product		133435	"core-binding factor, runt domain, alpha subunit 2; translocated to, 1; cyclin D-related"	AML1T1, CBFA2T1		1391946, 9790752	Standard	NM_004349		Approved	CDR, ETO, MTG8, ZMYND2	uc011lgi.2	Q06455	OTTHUMG00000164066	ENST00000523629.1:c.576G>C	8.37:g.93017508C>G						RUNX1T1_ENST00000422361.2_Silent_p.L155L|RUNX1T1_ENST00000518844.1_Silent_p.L165L|RUNX1T1_ENST00000360348.2_Silent_p.L155L|RUNX1T1_ENST00000520724.1_Silent_p.L155L|RUNX1T1_ENST00000436581.2_Silent_p.L203L|RUNX1T1_ENST00000396218.1_Silent_p.L165L|RUNX1T1_ENST00000265814.3_Silent_p.L192L|RUNX1T1_ENST00000521553.1_Silent_p.L155L	p.L192L	NM_001198626.1|NM_001198630.1|NM_001198633.1|NM_175634.2	NP_001185555.1|NP_001185559.1|NP_001185562.1|NP_783552.1	Q06455	MTG8_HUMAN	BRCA - Breast invasive adenocarcinoma(11;0.0141)		6	1030	-			192			TAFH.		B7Z4P4|E7EPN4|O14784|Q06456|Q14873|Q16239|Q16346|Q16347|Q6IBL1|Q6NXH1|Q7Z4J5|Q92479|Q9BRZ0	Silent	SNP	ENST00000523629.1	37	c.576G>C	CCDS6256.1																																																																																				0.552	RUNX1T1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000377045.3	NM_004349, NM_175635		5	26	0	0	0	1	0	5	26					G	93017508	C	G	93017508	2	3	10	1	0	0	0	0	0	0	0	1	13747	697	25	5		5	RUNX1T1	8	93017508	Silent	SNP	C	TCGA-2A-AAYU-01A-11D-A41K-08	82552455	93017508	53346514	19	335											
C5	727	broad.mit.edu	37	chr9	123779761	123779761	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acacagtttggcctggagaaTatgcatctgcatcaggagac	12	9	11	9	0	2	2	1	0	1	2	2	4	2	2	1	3	2	3	1	3	2	2			TCGA-2A-AAYU-01A-11D-A41K-08	TCGA-2A-AAYU-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3333fa05-d0eb-46bb-91af-2492f5b84e23	1695b0a1-b764-4797-83d5-4fcfed8fb4a7	g.chr9:123779761T>C	ENST00000223642.1	-	14	1774	c.1745A>G	c.(1744-1746)tAt>tGt	p.Y582C		NM_001735.2	NP_001726.2	P01031	CO5_HUMAN	complement component 5	582					activation of MAPK activity (GO:0000187)|cell chemotaxis (GO:0060326)|cell surface receptor signaling pathway (GO:0007166)|cellular calcium ion homeostasis (GO:0006874)|chemotaxis (GO:0006935)|complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|in utero embryonic development (GO:0001701)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|leukocyte migration involved in inflammatory response (GO:0002523)|negative regulation of dopamine secretion (GO:0033602)|negative regulation of macrophage chemotaxis (GO:0010760)|negative regulation of norepinephrine secretion (GO:0010700)|positive regulation of angiogenesis (GO:0045766)|positive regulation of chemokine secretion (GO:0090197)|positive regulation of chemotaxis (GO:0050921)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of complement activation (GO:0030449)|response to stress (GO:0006950)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane attack complex (GO:0005579)	chemokine activity (GO:0008009)|endopeptidase inhibitor activity (GO:0004866)|receptor binding (GO:0005102)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(14)|lung(5)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(323;4.98e-53)|GBM - Glioblastoma multiforme(294;0.0242)	Eculizumab(DB01257)|Intravenous Immunoglobulin(DB00028)	GCCTGGAGAATATGCATCTGC	0.413																																						ENST00000223642.1																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(14)|lung(5)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						c.(1744-1746)tAt>tGt		complement component 5	Eculizumab(DB01257)						57	55	56					9																	123779761		2203	4300	6503	SO:0001583	missense	727				activation of MAPK activity|chemotaxis|complement activation, alternative pathway|complement activation, classical pathway|cytolysis|G-protein coupled receptor protein signaling pathway|inflammatory response|negative regulation of macrophage chemotaxis|positive regulation of chemokine secretion|positive regulation vascular endothelial growth factor production	extracellular space|membrane attack complex	chemokine activity|endopeptidase inhibitor activity	g.chr9:123779761T>C	M57729	CCDS6826.1	9q33-q34	2014-09-17			ENSG00000106804	ENSG00000106804		"Complement system", "Endogenous ligands"	1331	protein-coding gene	gene with protein product	"prepro-C5", "C5a anaphylatoxin"	120900					Standard	NM_001735		Approved	CPAMD4, C5a, C5b	uc004bkv.3	P01031	OTTHUMG00000020579	ENST00000223642.1:c.1745A>G	9.37:g.123779761T>C	ENSP00000223642:p.Tyr582Cys						p.Y582C	NM_001735.2	NP_001726.2	P01031	CO5_HUMAN		OV - Ovarian serous cystadenocarcinoma(323;4.98e-53)|GBM - Glioblastoma multiforme(294;0.0242)	14	1774	-			582					Q14CJ0|Q27I61	Missense_Mutation	SNP	ENST00000223642.1	37	c.1745A>G	CCDS6826.1	.	.	.	.	.	.	.	.	.	.	T	12.29	1.894836	0.33442	.	.	ENSG00000106804	ENST00000223642;ENST00000430906	T	0.66638	-0.22	5.93	4.76	0.60689	Alpha-2-macroglobulin, N-terminal 2 (1);	0.658650	0.15766	N	0.245713	T	0.80706	0.4674	M	0.85945	2.785	0.33863	D	0.634018	P;D	0.65815	0.946;0.995	B;P	0.62649	0.427;0.905	D	0.86376	0.1726	10	0.72032	D	0.01	.	10.3469	0.43911	0.332:0.0:0.0:0.668	.	653;582	Q59GS8;P01031	.;CO5_HUMAN	C	582;653	ENSP00000223642:Y582C	ENSP00000223642:Y582C	Y	-	2	0	C5	122819582	0.996000	0.38824	0.992000	0.48379	0.668000	0.39293	1.669000	0.37492	2.258000	0.74832	0.533000	0.62120	TAT		0.413	C5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053844.1	NM_001735		22	25	0	0	0	1	0	22	25					C	123779761	T	C	123779761	3	2	10	1	0	0	0	0	1	0	0	0	2280	1406	49	4	3397	4	C5	9	123779761	Missense_Mutation	SNP	T	TCGA-2A-AAYU-01A-11D-A41K-08		123779761	17433670	20	336											
GPR158	57512	broad.mit.edu	37	chr10	25887455	25887455	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcaaatcctgcggaggagcCaagaaagcctcagaaatctg	14	6	10	11	1	3	2	2	0	1	2	4	4	4	4	3	2	3	0	3	2	4	0	rs368773769		TCGA-2A-AAYU-01A-11D-A41K-08	TCGA-2A-AAYU-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3333fa05-d0eb-46bb-91af-2492f5b84e23	1695b0a1-b764-4797-83d5-4fcfed8fb4a7	g.chr10:25887455C>A	ENST00000376351.3	+	11	3259	c.2900C>A	c.(2899-2901)cCa>cAa	p.P967Q	GPR158_ENST00000490549.1_3'UTR	NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158	967					protein localization to plasma membrane (GO:0072659)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						GCGGAGGAGCCAAGAAAGCCT	0.463																																						ENST00000376351.3																			0				breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						c.(2899-2901)cCa>cAa		G protein-coupled receptor 158		C	GLN/PRO	0,4406		0,0,2203	76	85	82		2900	3.7	1	10		82	1,8599	1.2+/-3.3	0,1,4299	no	missense	GPR158	NM_020752.2	76	0,1,6502	AA,AC,CC		0.0116,0.0,0.0077	benign	967/1216	25887455	1,13005	2203	4300	6503	SO:0001583	missense	57512					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr10:25887455C>A	AB032962	CCDS31166.1	10p12.31	2012-08-21			ENSG00000151025	ENSG00000151025		"GPCR / Class C : Orphans"	23689	protein-coding gene	gene with protein product		614573					Standard	NM_020752		Approved	KIAA1136	uc001isj.3	Q5T848	OTTHUMG00000017832	ENST00000376351.3:c.2900C>A	10.37:g.25887455C>A	ENSP00000365529:p.Pro967Gln					GPR158_ENST00000490549.1_3'UTR	p.P967Q	NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN			11	3259	+			967					Q6QR81|Q9ULT3	Missense_Mutation	SNP	ENST00000376351.3	37	c.2900C>A	CCDS31166.1	.	.	.	.	.	.	.	.	.	.	C	2.799	-0.249611	0.05867	0.0	1.16E-4	ENSG00000151025	ENST00000376351	T	0.32988	1.43	5.61	3.72	0.42706	.	0.568131	0.16868	N	0.196260	T	0.25306	0.0615	L	0.43152	1.355	0.09310	N	1	B	0.24823	0.112	B	0.27887	0.084	T	0.16660	-1.0395	10	0.20519	T	0.43	.	10.2063	0.43116	0.0:0.7914:0.0:0.2086	.	967	Q5T848	GP158_HUMAN	Q	967	ENSP00000365529:P967Q	ENSP00000365529:P967Q	P	+	2	0	GPR158	25927461	0.951000	0.32395	0.979000	0.43373	0.859000	0.49053	1.533000	0.36040	1.333000	0.45449	0.650000	0.86243	CCA		0.463	GPR158-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047248.2	XM_166110		47	88	1	0	5.34276e-22	1	5.63957e-22	47	88					A	25887455	C	A	25887455	3	1	10	1	0	0	0	0	1	0	0	0	6663	594	21	5	2942	5	GPR158	10	25887455	Missense_Mutation	SNP	C	TCGA-2A-AAYU-01A-11D-A41K-08		25887455	109647292	21	337											
MKI67	4288	broad.mit.edu	37	chr10	129911740	129911740	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtgcattaccagagactttCttttggttggggcttctccc	5	16	10	10	0	2	1	0	0	2	1	3	2	2	1	2	3	2	3	2	3	1	6			TCGA-2A-AAYU-01A-11D-A41K-08	TCGA-2A-AAYU-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3333fa05-d0eb-46bb-91af-2492f5b84e23	1695b0a1-b764-4797-83d5-4fcfed8fb4a7	g.chr10:129911740C>A	ENST00000368654.3	-	8	1982	c.1607G>T	c.(1606-1608)aGa>aTa	p.R536I	MKI67_ENST00000484853.1_5'Flank|MKI67_ENST00000368653.3_Missense_Mutation_p.R176I	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	536					cell proliferation (GO:0008283)|cellular response to heat (GO:0034605)|DNA metabolic process (GO:0006259)|hyaluronan metabolic process (GO:0030212)|meiotic nuclear division (GO:0007126)|organ regeneration (GO:0031100)|response to organic cyclic compound (GO:0014070)	chromosome, centromeric region (GO:0000775)|condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				CAGAGACTTTCTTTTGGTTGG	0.498																																						ENST00000368654.3																			0				NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159						c.(1606-1608)aGa>aTa		marker of proliferation Ki-67							225	204	211					10																	129911740		2203	4300	6503	SO:0001583	missense	4288				cell proliferation	nucleolus	ATP binding|protein C-terminus binding	g.chr10:129911740C>A	X65550	CCDS7659.1, CCDS53588.1	10q26.2	2014-06-12	2013-10-10		ENSG00000148773	ENSG00000148773			7107	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 105"	176741	"antigen identified by monoclonal antibody Ki-67"			2571566, 16206250	Standard	NM_002417		Approved	MIB-, PPP1R105	uc001lke.3	P46013	OTTHUMG00000019255	ENST00000368654.3:c.1607G>T	10.37:g.129911740C>A	ENSP00000357643:p.Arg536Ile					MKI67_ENST00000368653.3_Missense_Mutation_p.R176I	p.R536I	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN			8	1982	-		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)	536					Q5VWH2	Missense_Mutation	SNP	ENST00000368654.3	37	c.1607G>T	CCDS7659.1	.	.	.	.	.	.	.	.	.	.	C	18.12	3.553514	0.65425	.	.	ENSG00000148773	ENST00000368654;ENST00000368653;ENST00000537609;ENST00000368652	T;T	0.01584	4.8;4.75	4.95	4.95	0.65309	.	0.135032	0.48286	D	0.000184	T	0.09686	0.0238	M	0.79258	2.445	0.20196	N	0.999925	D;D;D	0.89917	0.999;0.999;1.0	D;D;D	0.80764	0.994;0.991;0.991	T	0.01500	-1.1339	10	0.87932	D	0	.	12.6137	0.56565	0.2299:0.7701:0.0:0.0	.	536;176;536	F5H4V4;P46013-2;P46013	.;.;KI67_HUMAN	I	536;176;536;111	ENSP00000357643:R536I;ENSP00000357642:R176I	ENSP00000357641:R111I	R	-	2	0	MKI67	129801730	0.000000	0.05858	0.012000	0.15200	0.837000	0.47467	0.256000	0.18351	2.576000	0.86940	0.655000	0.94253	AGA		0.498	MKI67-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050999.1	NM_002417		6	205	1	0	0.00116845	1	0.00116845	6	205					A	129911740	C	A	129911740	3	1	10	1	0	0	0	0	1	0	0	0	9598	913	32	5	8195	5	MKI67	10	129911740	Missense_Mutation	SNP	C	TCGA-2A-AAYU-01A-11D-A41K-08	104024285	129911740	5623007	22	338											
OLFML1	283298	broad.mit.edu	37	chr11	7531065	7531065	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ctctgggccatccactctggGccaggcacccatagccattt	7	9	9	16	0	2	0	0	0	2	0	3	0	3	0	5	3	1	1	5	3	1	2			TCGA-2A-AAYU-01A-11D-A41K-08	TCGA-2A-AAYU-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3333fa05-d0eb-46bb-91af-2492f5b84e23	1695b0a1-b764-4797-83d5-4fcfed8fb4a7	g.chr11:7531065G>A	ENST00000329293.3	+	3	1249	c.855G>A	c.(853-855)ggG>ggA	p.G285G	CTD-2516F10.2_ENST00000530201.1_RNA|OLFML1_ENST00000530135.1_Silent_p.G285G|OLFML1_ENST00000528758.1_3'UTR	NM_198474.3	NP_940876.2	Q6UWY5	OLFL1_HUMAN	olfactomedin-like 1	285	Olfactomedin-like. {ECO:0000255|PROSITE- ProRule:PRU00446}.					extracellular region (GO:0005576)				breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(3)|prostate(2)	24				Epithelial(150;6.96e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194)		TCCACTCTGGGCCAGGCACCC	0.572																																						ENST00000329293.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(3)|prostate(2)	24						c.(853-855)ggG>ggA		olfactomedin-like 1							60	51	54					11																	7531065		2201	4296	6497	SO:0001819	synonymous_variant	283298					extracellular region		g.chr11:7531065G>A	AY358591	CCDS7779.1	11p15	2008-02-05			ENSG00000183801	ENSG00000183801			24473	protein-coding gene	gene with protein product							Standard	NM_198474		Approved	UNQ564	uc001mfi.3	Q6UWY5	OTTHUMG00000165527	ENST00000329293.3:c.855G>A	11.37:g.7531065G>A						CTD-2516F10.2_ENST00000530201.1_RNA|OLFML1_ENST00000528758.1_3'UTR|OLFML1_ENST00000530135.1_Silent_p.G285G	p.G285G	NM_198474.3	NP_940876.2	Q6UWY5	OLFL1_HUMAN		Epithelial(150;6.96e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194)	3	1249	+			285			Olfactomedin-like.		B4DP03|Q569G4	Silent	SNP	ENST00000329293.3	37	c.855G>A	CCDS7779.1																																																																																				0.572	OLFML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384656.1	NM_198474		3	38	0	0	0	1	0	3	38					A	7531065	G	A	7531065	2	1	10	1	0	0	0	0	0	0	0	1	10856	1190	42	3		3	OLFML1	11	7531065	Silent	SNP	G	TCGA-2A-AAYU-01A-11D-A41K-08		7531065	127475451	23	339											
ANGPTL5	253935	broad.mit.edu	37	chr11	101765741	101765741	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ccacatacagcataaaactgGtatttttctgatttactata	14	15	4	8	0	1	1	0	1	1	0	1	1	1	1	1	1	4	2	1	1	7	9			TCGA-2A-AAYU-01A-11D-A41K-08	TCGA-2A-AAYU-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3333fa05-d0eb-46bb-91af-2492f5b84e23	1695b0a1-b764-4797-83d5-4fcfed8fb4a7	g.chr11:101765741G>A	ENST00000334289.3	-	8	1311	c.716C>T	c.(715-717)aCc>aTc	p.T239I		NM_178127.4	NP_835228.2	Q86XS5	ANGL5_HUMAN	angiopoietin-like 5	239	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.					extracellular region (GO:0005576)				breast(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|ovary(2)|skin(3)	29		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.043)		BRCA - Breast invasive adenocarcinoma(274;0.0328)		CATAAAACTGGTATTTTTCTG	0.274																																						ENST00000334289.3																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|ovary(2)|skin(3)	29						c.(715-717)aCc>aTc		angiopoietin-like 5							60	62	62					11																	101765741		2201	4296	6497	SO:0001583	missense	253935				signal transduction	extracellular space	receptor binding	g.chr11:101765741G>A	BC049170	CCDS8312.1	11q22.2	2013-02-06				ENSG00000187151		"Fibrinogen C domain containing"	19705	protein-coding gene	gene with protein product		607666				12624729	Standard	NM_178127		Approved		uc001pgl.3	Q86XS5		ENST00000334289.3:c.716C>T	11.37:g.101765741G>A	ENSP00000335255:p.Thr239Ile						p.T239I	NM_178127.4	NP_835228.2	Q86XS5	ANGL5_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.0328)	8	1311	-		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.043)	239			Fibrinogen C-terminal.		A8K658|Q86VR9	Missense_Mutation	SNP	ENST00000334289.3	37	c.716C>T	CCDS8312.1	.	.	.	.	.	.	.	.	.	.	G	15.10	2.733339	0.48939	.	.	ENSG00000187151	ENST00000334289;ENST00000534527	T;T	0.77229	-1.08;-1.08	5.38	3.51	0.40186	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (4);Fibrinogen, alpha/beta/gamma chain, C-terminal globular, subdomain 1 (1);	0.255608	0.45361	N	0.000363	T	0.72748	0.3499	L	0.61387	1.9	0.39630	D	0.970161	B	0.25206	0.12	B	0.31016	0.123	T	0.67193	-0.5732	10	0.39692	T	0.17	.	7.3742	0.26818	0.1442:0.0:0.7194:0.1364	.	239	Q86XS5	ANGL5_HUMAN	I	239;174	ENSP00000335255:T239I;ENSP00000433562:T174I	ENSP00000335255:T239I	T	-	2	0	ANGPTL5	101270951	1.000000	0.71417	0.995000	0.50966	0.997000	0.91878	3.920000	0.56446	0.636000	0.30508	0.650000	0.86243	ACC		0.274	ANGPTL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394138.1	NM_178127		9	43	0	0	0	1	0	9	43					A	101765741	G	A	101765741	3	1	10	1	0	0	0	0	1	0	0	0	617	1261	44	3	458	3	ANGPTL5	11	101765741	Missense_Mutation	SNP	G	TCGA-2A-AAYU-01A-11D-A41K-08	94234676	101765741	33240775	24	340											
MGST1	4257	broad.mit.edu	37	chr12	16516847	16516847	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcagactatttgtcggagcaCggatctaccacaccattgca	11	10	8	12	2	2	1	1	0	1	1	3	3	2	3	2	2	3	2	2	2	2	4	rs200950775		TCGA-2A-AAYU-01A-11D-A41K-08	TCGA-2A-AAYU-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3333fa05-d0eb-46bb-91af-2492f5b84e23	1695b0a1-b764-4797-83d5-4fcfed8fb4a7	g.chr12:16516847C>T	ENST00000396209.1	+	4	483	c.340C>T	c.(340-342)Cgg>Tgg	p.R114W	MGST1_ENST00000396207.1_Missense_Mutation_p.R114W|MGST1_ENST00000396210.3_Missense_Mutation_p.R114W|MGST1_ENST00000540056.1_3'UTR|MGST1_ENST00000010404.2_Missense_Mutation_p.R114W|MGST1_ENST00000535309.1_Intron	NM_145791.2	NP_665734.1	P10620	MGST1_HUMAN	microsomal glutathione S-transferase 1	114					cellular response to lipid hydroperoxide (GO:0071449)|glutathione derivative biosynthetic process (GO:1901687)|glutathione metabolic process (GO:0006749)|Leydig cell differentiation (GO:0033327)|oxidation-reduction process (GO:0055114)|protein homotrimerization (GO:0070207)|response to drug (GO:0042493)|response to lipopolysaccharide (GO:0032496)|response to organonitrogen compound (GO:0010243)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	apical part of cell (GO:0045177)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|peroxisomal membrane (GO:0005778)	glutathione binding (GO:0043295)|glutathione peroxidase activity (GO:0004602)|glutathione transferase activity (GO:0004364)	p.R114W(1)		endometrium(2)|large_intestine(2)|lung(4)|ovary(1)	9		Hepatocellular(102;0.121)			Glutathione(DB00143)	TGTCGGAGCACGGATCTACCA	0.448																																						ENST00000396209.1																			1	Substitution - Missense(1)	p.R114W(1)	endometrium(1)	endometrium(2)|large_intestine(2)|lung(4)|ovary(1)	9						c.(340-342)Cgg>Tgg		microsomal glutathione S-transferase 1	Glutathione(DB00143)						214	195	201					12																	16516847		2203	4300	6503	SO:0001583	missense	4257				protein homotrimerization|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane	glutathione transferase activity	g.chr12:16516847C>T	U46494	CCDS8677.1, CCDS58209.1	12p12.3-p12.1	2012-06-21			ENSG00000008394	ENSG00000008394	2.5.1.18	"Glutathione S-transferases / Microsomal"	7061	protein-coding gene	gene with protein product		138330		GST12			Standard	NM_145792		Approved	MGST-I	uc031qgl.1	P10620	OTTHUMG00000168816	ENST00000396209.1:c.340C>T	12.37:g.16516847C>T	ENSP00000379512:p.Arg114Trp					MGST1_ENST00000396207.1_Missense_Mutation_p.R114W|MGST1_ENST00000535309.1_Intron|MGST1_ENST00000010404.2_Missense_Mutation_p.R114W|MGST1_ENST00000396210.3_Missense_Mutation_p.R114W|MGST1_ENST00000540056.1_3'UTR	p.R114W	NM_145791.2	NP_665734.1	P10620	MGST1_HUMAN			4	483	+		Hepatocellular(102;0.121)	114					A8K533|G5EA53	Missense_Mutation	SNP	ENST00000396209.1	37	c.340C>T	CCDS8677.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.040721	0.75732	.	.	ENSG00000008394	ENST00000010404;ENST00000543076;ENST00000396210;ENST00000396209;ENST00000396207	D;D;D;D;D	0.87887	-2.31;-2.31;-2.31;-2.31;-2.31	5.27	4.34	0.51931	Membrane associated eicosanoid/glutathione metabolism-like domain (1);	0.000000	0.85682	D	0.000000	D	0.94571	0.8251	M	0.93550	3.43	0.58432	D	0.999996	D	0.89917	1.0	D	0.97110	1.0	D	0.95017	0.8157	10	0.87932	D	0	-2.4241	12.5477	0.56210	0.3382:0.6618:0.0:0.0	.	114	P10620	MGST1_HUMAN	W	114;78;114;114;114	ENSP00000010404:R114W;ENSP00000442767:R78W;ENSP00000379513:R114W;ENSP00000379512:R114W;ENSP00000379510:R114W	ENSP00000010404:R114W	R	+	1	2	MGST1	16408114	0.996000	0.38824	1.000000	0.80357	0.960000	0.62799	3.290000	0.51755	2.739000	0.93911	0.655000	0.94253	CGG		0.448	MGST1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401189.1	NM_145791		8	179	0	0	0	1	0	8	179					T	16516847	C	T	16516847	3	4	10	1	0	0	0	0	1	0	0	0	9560	527	19	1	350	1	MGST1	12	16516847	Missense_Mutation	SNP	C	TCGA-2A-AAYU-01A-11D-A41K-08		16516847	117335048	25	341											
ESPL1	9700	broad.mit.edu	37	chr12	53663407	53663407	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgacctgctctccaggcaCgtgatcagagccttggtggg	7	9	14	11	1	2	3	1	2	1	1	3	4	2	3	3	3	2	2	3	3	0	1			TCGA-2A-AAYU-01A-11D-A41K-08	TCGA-2A-AAYU-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3333fa05-d0eb-46bb-91af-2492f5b84e23	1695b0a1-b764-4797-83d5-4fcfed8fb4a7	g.chr12:53663407C>T	ENST00000257934.4	+	3	772	c.681C>T	c.(679-681)caC>caT	p.H227H	ESPL1_ENST00000552462.1_Silent_p.H227H	NM_012291.4	NP_036423.4	Q14674	ESPL1_HUMAN	extra spindle pole bodies homolog 1 (S. cerevisiae)	227					apoptotic process (GO:0006915)|cytokinesis (GO:0000910)|establishment of mitotic spindle localization (GO:0040001)|homologous chromosome segregation (GO:0045143)|meiotic spindle organization (GO:0000212)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid segregation (GO:0000070)|negative regulation of sister chromatid cohesion (GO:0045875)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)	centrosome (GO:0005813)|cytosol (GO:0005829)|nucleus (GO:0005634)	catalytic activity (GO:0003824)|cysteine-type peptidase activity (GO:0008234)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(10)|large_intestine(12)|lung(21)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(8)	70						TCTCCAGGCACGTGATCAGAG	0.567																																					Colon(53;1069 1201 2587 5382)	ENST00000257934.4																			0				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(10)|large_intestine(12)|lung(21)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(8)	70						c.(679-681)caC>caT		extra spindle pole bodies homolog 1 (S. cerevisiae)							169	174	172					12																	53663407		2203	4300	6503	SO:0001819	synonymous_variant	9700				apoptosis|cytokinesis|establishment of mitotic spindle localization|mitotic sister chromatid segregation|negative regulation of sister chromatid cohesion|positive regulation of mitotic metaphase/anaphase transition|proteolysis	centrosome|nucleus	cysteine-type peptidase activity|protein binding	g.chr12:53663407C>T	D79987	CCDS8852.1	12q13.13	2014-08-04	2013-05-03		ENSG00000135476	ENSG00000135476	3.4.22.49		16856	protein-coding gene	gene with protein product	"separin", "separase", "separin, cysteine protease"	604143	"extra spindle poles like 1 (S. cerevisiae)"			8724849, 16258266	Standard	NM_012291		Approved	KIAA0165, ESP1, SEPA	uc001sck.2	Q14674	OTTHUMG00000169674	ENST00000257934.4:c.681C>T	12.37:g.53663407C>T						ESPL1_ENST00000552462.1_Silent_p.H227H	p.H227H	NM_012291.4	NP_036423.4	Q14674	ESPL1_HUMAN			3	772	+			227						Silent	SNP	ENST00000257934.4	37	c.681C>T	CCDS8852.1																																																																																				0.567	ESPL1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406899.2	NM_012291		6	256	0	0	0	1	0	6	256					T	53663407	C	T	53663407	2	4	10	1	0	0	0	0	0	0	0	1	5253	535	19	1		1	ESPL1	12	53663407	Silent	SNP	C	TCGA-2A-AAYU-01A-11D-A41K-08	37146560	53663407	80188488	26	342											
COL4A2	1284	broad.mit.edu	37	chr13	111130444	111130444	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgtatgggcctccaggactGcatggattcccaggagctcc	7	9	12	13	0	0	0	0	0	0	0	3	3	3	3	4	4	2	3	4	4	1	2			TCGA-2A-AAYU-01A-11D-A41K-08	TCGA-2A-AAYU-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3333fa05-d0eb-46bb-91af-2492f5b84e23	1695b0a1-b764-4797-83d5-4fcfed8fb4a7	g.chr13:111130444G>A	ENST00000360467.5	+	30	2826	c.2520G>A	c.(2518-2520)ctG>ctA	p.L840L		NM_001846.2	NP_001837.2	P08572	CO4A2_HUMAN	collagen, type IV, alpha 2	840	Triple-helical region.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|cellular response to transforming growth factor beta stimulus (GO:0071560)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of angiogenesis (GO:0016525)|transcription, DNA-templated (GO:0006351)	collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)	extracellular matrix structural constituent (GO:0005201)			NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	80	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)			CTCCAGGACTGCATGGATTCC	0.662																																						ENST00000360467.5																			0				NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						c.(2518-2520)ctG>ctA		collagen, type IV, alpha 2							19	22	21					13																	111130444		1859	4089	5948	SO:0001819	synonymous_variant	1284				angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis	collagen type IV	extracellular matrix structural constituent|protein binding	g.chr13:111130444G>A	AK025912	CCDS41907.1	13q34	2013-09-05			ENSG00000134871	ENSG00000134871		"Collagens"	2203	protein-coding gene	gene with protein product	"canstatin", "collagen type IV alpha 2"	120090				2439508, 3025878	Standard	NM_001846		Approved	FLJ22259, DKFZp686I14213	uc001vqx.3	P08572	OTTHUMG00000017344	ENST00000360467.5:c.2520G>A	13.37:g.111130444G>A							p.L840L	NM_001846.2	NP_001837.2	P08572	CO4A2_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)		30	2826	+	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	840			Triple-helical region.		Q14052|Q548C3|Q5VZA9|Q66K23	Silent	SNP	ENST00000360467.5	37	c.2520G>A	CCDS41907.1																																																																																				0.662	COL4A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045761.2	NM_001846		3	19	0	0	0	1	0	3	19					A	111130444	G	A	111130444	2	1	10	1	0	0	0	0	0	0	0	1	3690	1306	46	3		3	COL4A2	13	111130444	Silent	SNP	G	TCGA-2A-AAYU-01A-11D-A41K-08		111130444	4039434	27	343											
OR4K15	81127	broad.mit.edu	37	chr14	20444489	20444489	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gactgctcacatcactgtggTcactttattctttggaccat	8	15	7	11	0	4	0	3	0	1	0	4	2	4	1	1	2	1	1	1	2	1	4			TCGA-2A-AAYU-01A-11D-A41K-08	TCGA-2A-AAYU-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3333fa05-d0eb-46bb-91af-2492f5b84e23	1695b0a1-b764-4797-83d5-4fcfed8fb4a7	g.chr14:20444489T>A	ENST00000305051.5	+	1	887	c.812T>A	c.(811-813)gTc>gAc	p.V271D		NM_001005486.1	NP_001005486.1	Q8NH41	OR4KF_HUMAN	olfactory receptor, family 4, subfamily K, member 15	271						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|ovary(1)|prostate(2)|skin(1)|stomach(1)	39	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;3.58e-06)	GBM - Glioblastoma multiforme(265;0.00327)		ATCACTGTGGTCACTTTATTC	0.458																																						ENST00000305051.5																			0				endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|ovary(1)|prostate(2)|skin(1)|stomach(1)	39						c.(811-813)gTc>gAc		olfactory receptor, family 4, subfamily K, member 15							146	121	130					14																	20444489		2203	4299	6502	SO:0001583	missense	81127				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20444489T>A		CCDS32026.1	14q11.2	2013-09-23			ENSG00000169488	ENSG00000169488		"GPCR / Class A : Olfactory receptors"	15353	protein-coding gene	gene with protein product							Standard	NM_001005486		Approved	OR4K15Q	uc010tkx.2	Q8NH41	OTTHUMG00000170635	ENST00000305051.5:c.812T>A	14.37:g.20444489T>A	ENSP00000304077:p.Val271Asp						p.V271D	NM_001005486.1	NP_001005486.1	Q8NH41	OR4KF_HUMAN	Epithelial(56;9.96e-07)|all cancers(55;3.58e-06)	GBM - Glioblastoma multiforme(265;0.00327)	1	887	+	all_cancers(95;0.00108)		271					B9EIL3|Q6IEZ4	Missense_Mutation	SNP	ENST00000305051.5	37	c.812T>A	CCDS32026.1	.	.	.	.	.	.	.	.	.	.	.	14.97	2.695070	0.48202	.	.	ENSG00000169488	ENST00000305051	T	0.00367	7.78	3.99	3.99	0.46301	GPCR, rhodopsin-like superfamily (1);	0.000000	0.45867	D	0.000326	T	0.01870	0.0059	H	0.98738	4.315	0.54753	D	0.999983	D	0.69078	0.997	D	0.79108	0.992	T	0.01711	-1.1290	10	0.87932	D	0	.	10.8799	0.46933	0.0:0.0:0.0:1.0	.	271	Q8NH41	OR4KF_HUMAN	D	271	ENSP00000304077:V271D	ENSP00000304077:V271D	V	+	2	0	OR4K15	19514329	0.950000	0.32346	0.992000	0.48379	0.512000	0.34134	4.179000	0.58290	1.665000	0.50811	0.482000	0.46254	GTC		0.458	OR4K15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409883.1			24	53	0	0	0	1	0	24	53					A	20444489	T	A	20444489	3	1	10	1	0	0	0	0	1	0	0	0	11070	1667	58	5	814	5	OR4K15	14	20444489	Missense_Mutation	SNP	T	TCGA-2A-AAYU-01A-11D-A41K-08		20444489	86905051	28	344											
FLRT2	23768	broad.mit.edu	37	chr14	86087985	86087985	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gccctagtgtgtgccgctgcGacaggaactttgtctactgt	6	12	12	11	2	1	0	0	0	1	0	1	2	1	1	2	1	4	1	2	1	3	3			TCGA-2A-AAYU-01A-11D-A41K-08	TCGA-2A-AAYU-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3333fa05-d0eb-46bb-91af-2492f5b84e23	1695b0a1-b764-4797-83d5-4fcfed8fb4a7	g.chr14:86087985G>A	ENST00000330753.4	+	2	894	c.127G>A	c.(127-129)Gac>Aac	p.D43N	FLRT2_ENST00000554746.1_Missense_Mutation_p.D43N	NM_013231.4	NP_037363.1	O43155	FLRT2_HUMAN	fibronectin leucine rich transmembrane protein 2	43	LRRNT.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|intracellular signal transduction (GO:0035556)|regulation of neuron migration (GO:2001222)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|proteinaceous extracellular matrix (GO:0005578)	chemorepellent activity (GO:0045499)|protein binding, bridging (GO:0030674)|receptor signaling protein activity (GO:0005057)	p.D43N(2)		NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	73				BRCA - Breast invasive adenocarcinoma(234;0.0319)		GTGCCGCTGCGACAGGAACTT	0.522																																						ENST00000330753.4																			2	Substitution - Missense(2)	p.D43N(2)	large_intestine(1)|endometrium(1)	NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	73						c.(127-129)Gac>Aac		fibronectin leucine rich transmembrane protein 2							124	116	118					14																	86087985		2203	4300	6503	SO:0001583	missense	23768				cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity	g.chr14:86087985G>A	AF169676	CCDS9877.1	14q24-q32	2013-02-11				ENSG00000185070		"Fibronectin type III domain containing"	3761	protein-coding gene	gene with protein product		604807				10644439, 16872596	Standard	XM_005267490		Approved		uc001xvr.3	O43155		ENST00000330753.4:c.127G>A	14.37:g.86087985G>A	ENSP00000332879:p.Asp43Asn					FLRT2_ENST00000554746.1_Missense_Mutation_p.D43N	p.D43N	NM_013231.4	NP_037363.1	O43155	FLRT2_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0319)	2	894	+			43			LRRNT.		A0AV84|B7ZLP3	Missense_Mutation	SNP	ENST00000330753.4	37	c.127G>A	CCDS9877.1	.	.	.	.	.	.	.	.	.	.	G	33	5.224776	0.95173	.	.	ENSG00000185070	ENST00000330753;ENST00000554746	D;D	0.96104	-3.91;-3.91	5.73	5.73	0.89815	Leucine-rich repeat-containing N-terminal (2);	0.047964	0.85682	D	0.000000	D	0.90270	0.6957	N	0.17631	0.505	0.80722	D	1	P	0.46457	0.878	B	0.34038	0.174	D	0.90594	0.4539	10	0.42905	T	0.14	-31.8616	19.9036	0.96999	0.0:0.0:1.0:0.0	.	43	O43155	FLRT2_HUMAN	N	43	ENSP00000332879:D43N;ENSP00000451050:D43N	ENSP00000332879:D43N	D	+	1	0	FLRT2	85157738	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	8.061000	0.89467	2.706000	0.92434	0.655000	0.94253	GAC		0.522	FLRT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413193.1			17	105	0	0	0	1	0	17	105					A	86087985	G	A	86087985	3	1	10	1	0	0	0	0	1	0	0	0	5939	1058	37	2	129	2	FLRT2	14	86087985	Missense_Mutation	SNP	G	TCGA-2A-AAYU-01A-11D-A41K-08	65643496	86087985	21261555	29	345											
DNAH3	55567	broad.mit.edu	37	chr16	20975444	20975444	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgatggcggtttcatcctcCaggatgttacccttggacat	7	14	10	10	1	1	1	1	1	0	0	3	3	3	3	3	4	1	2	3	4	1	4			TCGA-2A-AAYU-01A-11D-A41K-08	TCGA-2A-AAYU-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3333fa05-d0eb-46bb-91af-2492f5b84e23	1695b0a1-b764-4797-83d5-4fcfed8fb4a7	g.chr16:20975444C>T	ENST00000261383.3	-	53	9761	c.9762G>A	c.(9760-9762)ctG>ctA	p.L3254L	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	3254	AAA 5. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		TTTCATCCTCCAGGATGTTAC	0.438																																						ENST00000261383.3																			0				NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202						c.(9760-9762)ctG>ctA		dynein, axonemal, heavy chain 3							143	135	138					16																	20975444		2201	4300	6501	SO:0001819	synonymous_variant	55567				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr16:20975444C>T	U83574	CCDS10594.1	16p12.2	2008-08-01	2006-09-04		ENSG00000158486	ENSG00000158486		"Axonemal dyneins"	2949	protein-coding gene	gene with protein product		603334	"dynein, axonemal, heavy polypeptide 3"			9256245, 9373155	Standard	NM_017539		Approved	Dnahc3b, DLP3, Hsadhc3, DKFZp434N074	uc010vbe.2	Q8TD57	OTTHUMG00000090677	ENST00000261383.3:c.9762G>A	16.37:g.20975444C>T						DNAH3_ENST00000415178.1_3'UTR	p.L3254L	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN		GBM - Glioblastoma multiforme(48;0.207)	53	9761	-			3254			AAA 5 (By similarity).		O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Silent	SNP	ENST00000261383.3	37	c.9762G>A	CCDS10594.1																																																																																				0.438	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207361.1	NM_017539		75	96	0	0	0	1	0	75	96					T	20975444	C	T	20975444	2	4	10	1	0	0	0	0	0	0	0	1	4603	581	21	3		3	DNAH3	16	20975444	Silent	SNP	C	TCGA-2A-AAYU-01A-11D-A41K-08		20975444	69379309	30	346											
NETO2	81831	broad.mit.edu	37	chr16	47143592	47143592	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cttgcattcatttgagtgctCcatttgataatctaggaacc	10	15	7	9	0	2	2	1	2	1	0	3	3	3	3	2	1	3	2	2	1	3	6			TCGA-2A-AAYU-01A-11D-A41K-08	TCGA-2A-AAYU-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3333fa05-d0eb-46bb-91af-2492f5b84e23	1695b0a1-b764-4797-83d5-4fcfed8fb4a7	g.chr16:47143592C>T	ENST00000562435.1	-	7	1069	c.685G>A	c.(685-687)Gag>Aag	p.E229K	NETO2_ENST00000303155.5_Missense_Mutation_p.E222K	NM_018092.4	NP_060562.3	Q8NC67	NETO2_HUMAN	neuropilin (NRP) and tolloid (TLL)-like 2	229	CUB 2. {ECO:0000255|PROSITE- ProRule:PRU00059}.				regulation of kainate selective glutamate receptor activity (GO:2000312)	kainate selective glutamate receptor complex (GO:0032983)|postsynaptic density (GO:0014069)				breast(1)|cervix(1)|endometrium(1)|large_intestine(8)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	29		all_cancers(37;0.00114)|all_lung(18;0.00432)|Lung NSC(13;0.0384)|Breast(268;0.174)				TTTGAGTGCTCCATTTGATAA	0.323										HNSCC(25;0.065)																												ENST00000562435.1																			0				breast(1)|cervix(1)|endometrium(1)|large_intestine(8)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	29						c.(685-687)Gag>Aag		neuropilin (NRP) and tolloid (TLL)-like 2							78	74	75					16																	47143592		2203	4300	6503	SO:0001583	missense	81831					integral to membrane	receptor activity	g.chr16:47143592C>T	AK001292	CCDS10727.1, CCDS58460.1	16q11.2	2008-08-04			ENSG00000171208	ENSG00000171208			14644	protein-coding gene	gene with protein product		607974				11943477	Standard	NM_018092		Approved	FLJ10430, NEOT2	uc002eer.2	Q8NC67	OTTHUMG00000133101	ENST00000562435.1:c.685G>A	16.37:g.47143592C>T	ENSP00000455169:p.Glu229Lys	HNSCC(25;0.065)				NETO2_ENST00000303155.5_Missense_Mutation_p.E222K	p.E229K	NM_018092.4	NP_060562.3	Q8NC67	NETO2_HUMAN			7	1069	-		all_cancers(37;0.00114)|all_lung(18;0.00432)|Lung NSC(13;0.0384)|Breast(268;0.174)	229			CUB 2.		J3KNF1|Q7Z381|Q8ND51|Q96SP4|Q9NVY8	Missense_Mutation	SNP	ENST00000562435.1	37	c.685G>A	CCDS10727.1	.	.	.	.	.	.	.	.	.	.	C	17.12	3.307178	0.60305	.	.	ENSG00000171208	ENST00000303155	.	.	.	5.48	5.48	0.80851	CUB (5);	0.052883	0.64402	D	0.000001	T	0.70675	0.3251	M	0.78456	2.415	0.58432	D	0.999996	B;P;P	0.47484	0.24;0.801;0.896	B;B;P	0.48368	0.403;0.339;0.575	T	0.75363	-0.3344	9	0.72032	D	0.01	.	15.2189	0.73296	0.0:0.8598:0.1402:0.0	.	86;222;229	B7Z4I7;Q32NC3;Q8NC67	.;.;NETO2_HUMAN	K	229	.	ENSP00000306726:E229K	E	-	1	0	NETO2	45701093	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.832000	0.62759	2.727000	0.93392	0.585000	0.79938	GAG		0.323	NETO2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256766.2	NM_018092		29	44	0	0	0	1	0	29	44					T	47143592	C	T	47143592	3	4	10	1	0	0	0	0	1	0	0	0	10340	864	30	3	904	3	NETO2	16	47143592	Missense_Mutation	SNP	C	TCGA-2A-AAYU-01A-11D-A41K-08	26168148	47143592	43211161	31	347											
GAS7	8522	broad.mit.edu	37	chr17	9843494	9843494	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agagcttagctaagttcttcGcatagtcttcttcaatcttt	9	17	6	9	1	5	1	1	0	4	1	6	1	5	1	0	0	2	4	0	0	4	8			TCGA-2A-AAYU-01A-11D-A41K-08	TCGA-2A-AAYU-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3333fa05-d0eb-46bb-91af-2492f5b84e23	1695b0a1-b764-4797-83d5-4fcfed8fb4a7	g.chr17:9843494G>A	ENST00000432992.2	-	8	915	c.755C>T	c.(754-756)gCg>gTg	p.A252V	GAS7_ENST00000580865.1_Missense_Mutation_p.A112V|GAS7_ENST00000583882.1_Intron|GAS7_ENST00000323816.4_Missense_Mutation_p.A192V|GAS7_ENST00000540214.1_Intron|GAS7_ENST00000396115.2_Intron|GAS7_ENST00000579158.1_Missense_Mutation_p.A188V|GAS7_ENST00000542249.1_Missense_Mutation_p.A188V|GAS7_ENST00000437099.2_Missense_Mutation_p.A188V|GAS7_ENST00000585266.1_Missense_Mutation_p.A192V	NM_201433.1	NP_958839.1	O60861	GAS7_HUMAN	growth arrest-specific 7	252	FCH. {ECO:0000255|PROSITE- ProRule:PRU00083}.				actin filament bundle assembly (GO:0051017)|actin filament polymerization (GO:0030041)|cell cycle arrest (GO:0007050)|neuron projection morphogenesis (GO:0048812)|regulation of cell shape (GO:0008360)|regulation of transcription, DNA-templated (GO:0006355)	actin filament (GO:0005884)|cytoplasm (GO:0005737)|ruffle (GO:0001726)	sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(7)|lung(18)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	39						TAAGTTCTTCGCATAGTCTTC	0.537			T	MLL	AML*																																	ENST00000396115.1				Dom	yes		17	17p	8522	T	growth arrest-specific 7			L	MLL		AML*		0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(7)|lung(18)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	39						c.(574-576)gCg>gTg		growth arrest-specific 7							197	174	182					17																	9843494		2203	4300	6503	SO:0001583	missense	8522				cell cycle arrest	cytoplasm	sequence-specific DNA binding transcription factor activity	g.chr17:9843494G>A	AB007854	CCDS11152.1, CCDS42263.1, CCDS45611.1, CCDS58518.1	17p13.1	2004-02-18							4169	protein-coding gene	gene with protein product		603127				9736752	Standard	NM_001130831		Approved	KIAA0394, MGC1348	uc002gmg.1	O60861		ENST00000432992.2:c.755C>T	17.37:g.9843494G>A	ENSP00000407552:p.Ala252Val					GAS7_ENST00000540214.1_Intron|GAS7_ENST00000323816.4_Missense_Mutation_p.A188V|GAS7_ENST00000583882.1_Intron|GAS7_ENST00000432992.2_Missense_Mutation_p.A252V|GAS7_ENST00000585266.1_Missense_Mutation_p.A188V|GAS7_ENST00000542249.1_Missense_Mutation_p.A197V|GAS7_ENST00000437099.2_Missense_Mutation_p.A188V|GAS7_ENST00000580865.1_Missense_Mutation_p.A112V|GAS7_ENST00000579158.1_Missense_Mutation_p.A204V	p.A192V	NM_201432.1	NP_958836.1	O60861	GAS7_HUMAN			8	885	-			252					A8KAC2|B2RCK9|O43144|Q53Y77|Q7Z571	Missense_Mutation	SNP	ENST00000432992.2	37	c.575C>T	CCDS11152.1	.	.	.	.	.	.	.	.	.	.	G	29.4	4.999247	0.93227	.	.	ENSG00000007237	ENST00000323816;ENST00000396115;ENST00000437099;ENST00000432992;ENST00000537970;ENST00000541114	T	0.60797	0.16	4.88	4.88	0.63580	Fps/Fes/Fer/CIP4 homology (3);	0.000000	0.85682	D	0.000000	T	0.77039	0.4072	M	0.83312	2.635	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.80764	0.994;0.991;0.993;0.991	T	0.78974	-0.1992	9	.	.	.	-1.7598	15.3977	0.74808	0.0:0.0:1.0:0.0	.	204;192;112;252	B7Z2L1;A8KAC2;O60861-2;O60861	.;.;.;GAS7_HUMAN	V	252;192;191;112;192;66	ENSP00000379421:A192V	.	A	-	2	0	GAS7	9784219	1.000000	0.71417	0.984000	0.44739	0.966000	0.64601	8.743000	0.91592	2.696000	0.92011	0.655000	0.94253	GCG		0.537	GAS7-017	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439883.1	NM_003644, NM_201432, NM_201433		5	194	0	0	0	1	0	5	194					A	9843494	G	A	9843494	3	1	10	1	0	0	0	0	1	0	0	0	6250	1087	38	1	703	1	GAS7	17	9843494	Missense_Mutation	SNP	G	TCGA-2A-AAYU-01A-11D-A41K-08		9843494	71351716	32	348											
RAI1	10743	broad.mit.edu	37	chr17	17697096	17697096	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggccgcctcagctatgaccaGcagcagcagcagcagcagca	11	3	12	15	1	1	1	1	1	0	0	1	1	1	1	3	1	8	8	3	1	1	1	rs113303801|rs398124422|rs371983878|rs571229335|rs587780431	byFrequency	TCGA-2A-AAYU-01A-11D-A41K-08	TCGA-2A-AAYU-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3333fa05-d0eb-46bb-91af-2492f5b84e23	1695b0a1-b764-4797-83d5-4fcfed8fb4a7	g.chr17:17697096G>C	ENST00000353383.1	+	3	1303	c.834G>C	c.(832-834)caG>caC	p.Q278H	RAI1_ENST00000261641.6_Missense_Mutation_p.Q278H	NM_030665.3	NP_109590.3	Q7Z5J4	RAI1_HUMAN	retinoic acid induced 1	278	Gln-rich.|Poly-Gln.				circadian regulation of gene expression (GO:0032922)|negative regulation of multicellular organism growth (GO:0040015)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	enhancer binding (GO:0035326)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(5)|urinary_tract(7)	48				READ - Rectum adenocarcinoma(1115;0.0276)		GCTATGACcagcagcagcagc	0.637																																						ENST00000353383.1																			0				breast(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(5)|urinary_tract(7)	48						c.(832-834)caG>caC		retinoic acid induced 1							18	23	22					17																	17697096		2081	4107	6188	SO:0001583	missense	10743					cytoplasm|nucleus	zinc ion binding	g.chr17:17697096G>C	AJ230819	CCDS11188.1	17p11.2	2011-02-08			ENSG00000108557	ENSG00000108557			9834	protein-coding gene	gene with protein product		607642	"Smith-Magenis syndrome chromosome region"	SMCR		10036180	Standard	NM_030665		Approved	DKFZP434A139, SMS, KIAA1820, MGC12824	uc002grm.3	Q7Z5J4	OTTHUMG00000059314	ENST00000353383.1:c.834G>C	17.37:g.17697096G>C	ENSP00000323074:p.Gln278His					RAI1_ENST00000261641.6_Missense_Mutation_p.Q278H	p.Q278H	NM_030665.3	NP_109590.3	Q7Z5J4	RAI1_HUMAN		READ - Rectum adenocarcinoma(1115;0.0276)	3	1303	+			278			Gln-rich.|Poly-Gln.		Q8N3B4|Q8ND08|Q8WU64|Q96JK5|Q9H1C1|Q9H1C2|Q9UF69	Missense_Mutation	SNP	ENST00000353383.1	37	c.834G>C	CCDS11188.1	.	.	.	.	.	.	.	.	.	.	g	0.076	-1.192861	0.01607	.	.	ENSG00000108557	ENST00000353383;ENST00000395774;ENST00000395776;ENST00000355970;ENST00000261641;ENST00000315321	T;T;T	0.69806	-0.43;1.41;0.17	4.53	-9.06	0.00727	.	0.597522	0.15390	N	0.264894	T	0.43743	0.1261	L	0.39898	1.24	0.18873	N	0.999987	P	0.37864	0.61	B	0.37198	0.243	T	0.31392	-0.9945	10	0.35671	T	0.21	.	4.0515	0.09798	0.4386:0.1326:0.3468:0.0819	.	278	Q7Z5J4	RAI1_HUMAN	H	278;278;278;278;278;255	ENSP00000323074:Q278H;ENSP00000379120:Q278H;ENSP00000261641:Q278H	ENSP00000261641:Q278H	Q	+	3	2	RAI1	17637821	0.953000	0.32496	0.000000	0.03702	0.311000	0.27955	0.063000	0.14410	-2.722000	0.00388	-1.461000	0.01025	CAG		0.637	RAI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131775.1	NM_030665		3	29	0	0	0	1	0	3	29					C	17697096	G	C	17697096	3	2	10	1	0	0	0	0	1	0	0	0	13007	962	34	5	836	5	RAI1	17	17697096	Missense_Mutation	SNP	G	TCGA-2A-AAYU-01A-11D-A41K-08	7853602	17697096	63498114	33	349											
LIG3	3980	broad.mit.edu	37	chr17	33310098	33310098	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aaaagaactgtgcctattccGaaaacatcactggcgtgatg	14	9	9	9	2	1	2	1	1	0	1	2	3	2	2	2	1	3	0	2	1	6	2	rs187881525	byFrequency	TCGA-2A-AAYU-01A-11D-A41K-08	TCGA-2A-AAYU-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3333fa05-d0eb-46bb-91af-2492f5b84e23	1695b0a1-b764-4797-83d5-4fcfed8fb4a7	g.chr17:33310098G>A	ENST00000378526.4	+	2	207	c.74G>A	c.(73-75)cGa>cAa	p.R25Q	LIG3_ENST00000586407.1_Intron|LIG3_ENST00000262327.5_Missense_Mutation_p.R25Q	NM_013975.3	NP_039269.2	P49916	DNLI3_HUMAN	ligase III, DNA, ATP-dependent	25					base-excision repair (GO:0006284)|base-excision repair, DNA ligation (GO:0006288)|DNA biosynthetic process (GO:0071897)|DNA repair (GO:0006281)|double-strand break repair via nonhomologous end joining (GO:0006303)|lagging strand elongation (GO:0006273)|mitochondrial DNA repair (GO:0043504)|negative regulation of DNA recombination (GO:0045910)|nucleotide-excision repair (GO:0006289)|reciprocal meiotic recombination (GO:0007131)|spermatogenesis (GO:0007283)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA ligase (ATP) activity (GO:0003910)|DNA ligase activity (GO:0003909)|zinc ion binding (GO:0008270)			endometrium(4)|large_intestine(8)|lung(9)|ovary(3)|pancreas(2)|prostate(1)|skin(3)|stomach(1)	31		Ovarian(249;0.17)			Bleomycin(DB00290)	TGCCTATTCCGAAAACATCAC	0.463								Other BER factors					G|||	2	0.000399361	0	0.0029	5008	,	,		19704	0		0	False		,,,				2504	0					ENST00000378526.4																			0				endometrium(4)|large_intestine(8)|lung(9)|ovary(3)|pancreas(2)|prostate(1)|skin(3)|stomach(1)	31						c.(73-75)cGa>cAa	Other BER factors	ligase III, DNA, ATP-dependent	Bleomycin(DB00290)						92	86	88					17																	33310098		2203	4300	6503	SO:0001583	missense	3980				base-excision repair|cell division|DNA ligation involved in DNA repair|DNA replication|reciprocal meiotic recombination|spermatogenesis	nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|protein binding|zinc ion binding	g.chr17:33310098G>A		CCDS11284.2, CCDS11285.2	17q11.2-q12	2008-10-29			ENSG00000005156	ENSG00000005156			6600	protein-coding gene	gene with protein product		600940	"ligase II, DNA, ATP-dependent"	LIG2		7760816	Standard	NM_002311		Approved		uc002hik.2	P49916	OTTHUMG00000128519	ENST00000378526.4:c.74G>A	17.37:g.33310098G>A	ENSP00000367787:p.Arg25Gln					LIG3_ENST00000586407.1_Intron|LIG3_ENST00000262327.5_Missense_Mutation_p.R25Q	p.R25Q	NM_013975.3	NP_039269.2	P49916	DNLI3_HUMAN			2	207	+		Ovarian(249;0.17)	25					Q16714|Q6NVK3	Missense_Mutation	SNP	ENST00000378526.4	37	c.74G>A	CCDS11284.2	2	9.157509157509158E-4	0	0.0	2	0.0055248618784530384	0	0.0	0	0.0	G	8.748	0.920607	0.17982	.	.	ENSG00000005156	ENST00000378526;ENST00000262327	T;T	0.61742	0.21;0.08	5.01	-1.94	0.07571	.	1.573020	0.03995	N	0.295502	T	0.34077	0.0885	L	0.27053	0.805	0.09310	N	1	B;B;B;B	0.14438	0.001;0.001;0.003;0.01	B;B;B;B	0.06405	0.001;0.001;0.001;0.002	T	0.35699	-0.9778	10	0.66056	D	0.02	1.8231	5.3353	0.15955	0.4341:0.1478:0.4181:0.0	.	25;25;25;25	E5KLB5;P49916;E5KLB6;Q96DF0	.;DNLI3_HUMAN;.;.	Q	25	ENSP00000367787:R25Q;ENSP00000262327:R25Q	ENSP00000262327:R25Q	R	+	2	0	LIG3	30334211	0.020000	0.18652	0.004000	0.12327	0.004000	0.04260	-0.155000	0.10115	-0.161000	0.10983	-0.793000	0.03317	CGA		0.463	LIG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250330.3	NM_013975		18	39	0	0	0	1	0	18	39					A	33310098	G	A	33310098	3	1	10	1	0	0	0	0	1	0	0	0	8782	1058	37	2	76	2	LIG3	17	33310098	Missense_Mutation	SNP	G	TCGA-2A-AAYU-01A-11D-A41K-08	15613002	33310098	47885112	34	350											
AZU1	566	broad.mit.edu	37	chr19	829580	829580	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aggaaccccggggttagcacCgtggtgctgggtgcctatga	7	8	16	10	2	0	1	0	1	0	0	0	2	0	2	4	5	4	3	4	5	3	2			TCGA-2A-AAYU-01A-11D-A41K-08	TCGA-2A-AAYU-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3333fa05-d0eb-46bb-91af-2492f5b84e23	1695b0a1-b764-4797-83d5-4fcfed8fb4a7	g.chr19:829580C>T	ENST00000233997.2	+	3	255	c.234C>T	c.(232-234)acC>acT	p.T78T		NM_001700.3	NP_001691.1	P20160	CAP7_HUMAN	azurocidin 1	78	Hydrophobic.|Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				cellular extravasation (GO:0045123)|defense response to Gram-negative bacterium (GO:0050829)|glial cell migration (GO:0008347)|induction of positive chemotaxis (GO:0050930)|inflammatory response (GO:0006954)|macrophage chemotaxis (GO:0048246)|microglial cell activation (GO:0001774)|monocyte activation (GO:0042117)|negative regulation of apoptotic process (GO:0043066)|positive regulation of cell adhesion (GO:0045785)|positive regulation of fractalkine biosynthetic process (GO:0050754)|positive regulation of interleukin-1 beta biosynthetic process (GO:0050725)|positive regulation of MHC class II biosynthetic process (GO:0045348)|positive regulation of phagocytosis (GO:0050766)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of vascular permeability (GO:0043114)	azurophil granule (GO:0042582)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	heparin binding (GO:0008201)|serine-type endopeptidase activity (GO:0004252)|toxic substance binding (GO:0015643)			NS(1)|endometrium(1)|kidney(1)|lung(4)|pancreas(1)|upper_aerodigestive_tract(2)	10		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;0.000172)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGGTTAGCACCGTGGTGCTGG	0.637																																						ENST00000233997.2																			0				NS(1)|endometrium(1)|kidney(1)|lung(4)|pancreas(1)|upper_aerodigestive_tract(2)	10						c.(232-234)acC>acT		azurocidin 1							78	75	76					19																	829580		2203	4300	6503	SO:0001819	synonymous_variant	566				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis|cellular extravasation|defense response to Gram-negative bacterium|glial cell migration|induction of positive chemotaxis|inflammatory response|macrophage chemotaxis|microglial cell activation|monocyte activation|positive regulation of cell adhesion|positive regulation of fractalkine biosynthetic process|positive regulation of interleukin-1 beta biosynthetic process|positive regulation of MHC class II biosynthetic process|positive regulation of phagocytosis|positive regulation of tumor necrosis factor biosynthetic process|proteolysis|regulation of vascular permeability	azurophil granule|extracellular region	heparin binding|serine-type endopeptidase activity|toxin binding	g.chr19:829580C>T	X58794	CCDS12044.1	19p13.3	2012-03-30	2008-08-01		ENSG00000172232	ENSG00000172232			913	protein-coding gene	gene with protein product	"cationic antimicrobial protein 37", "heparin-binding protein", "neutrophil azurocidin"	162815				1919011	Standard	NM_001700		Approved	AZU, CAP37, AZAMP, HBP, NAZC, HUMAZUR	uc002lpz.1	P20160		ENST00000233997.2:c.234C>T	19.37:g.829580C>T							p.T78T	NM_001700.3	NP_001691.1	P20160	CAP7_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	3	255	+		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;0.000172)|Hepatocellular(1079;0.137)|Renal(1328;0.228)	78			Hydrophobic.|Peptidase S1.		P80014|Q52LG4|Q9UCM1|Q9UCT5	Silent	SNP	ENST00000233997.2	37	c.234C>T	CCDS12044.1																																																																																				0.637	AZU1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457472.2	NM_001700		18	116	0	0	0	1	0	18	116					T	829580	C	T	829580	2	4	10	1	0	0	0	0	0	0	0	1	1243	639	23	2		2	AZU1	19	829580	Silent	SNP	C	TCGA-2A-AAYU-01A-11D-A41K-08		829580	58299403	35	351											
KCNJ4	3761	broad.mit.edu	37	chr22	38824098	38824098	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcggttgcggcgcttccgccGgggcacgtgggcctggccgt	1	7	19	14	7	0	0	0	0	0	0	1	0	1	0	4	6	1	3	4	6	0	2			TCGA-2A-AAYU-01A-11D-A41K-08	TCGA-2A-AAYU-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3333fa05-d0eb-46bb-91af-2492f5b84e23	1695b0a1-b764-4797-83d5-4fcfed8fb4a7	g.chr22:38824098G>A	ENST00000303592.3	-	2	298	c.40C>T	c.(40-42)Cgg>Tgg	p.R14W	RP3-434P1.6_ENST00000433230.1_RNA	NM_004981.1|NM_152868.2	NP_004972.1|NP_690607.1	P48050	KCNJ4_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 4	14					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	basolateral plasma membrane (GO:0016323)|cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|voltage-gated potassium channel complex (GO:0008076)	inward rectifier potassium channel activity (GO:0005242)|PDZ domain binding (GO:0030165)			endometrium(7)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	23	Melanoma(58;0.0286)					CGCTTCCGCCGGGGCACGTGG	0.642																																						ENST00000303592.3																			0				endometrium(7)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	23						c.(40-42)Cgg>Tgg		potassium inwardly-rectifying channel, subfamily J, member 4							216	194	201					22																	38824098		2203	4300	6503	SO:0001583	missense	3761				synaptic transmission	basolateral plasma membrane|voltage-gated potassium channel complex	inward rectifier potassium channel activity|PDZ domain binding	g.chr22:38824098G>A	U07364	CCDS13971.1	22q13.1	2011-07-05			ENSG00000168135	ENSG00000168135		"Potassium channels", "Voltage-gated ion channels / Potassium channels, Inwardly rectifying"	6265	protein-coding gene	gene with protein product		600504				8016146, 16382105	Standard	NM_152868		Approved	Kir2.3, HIR, HRK1, hIRK2, IRK3	uc003avs.1	P48050	OTTHUMG00000151131	ENST00000303592.3:c.40C>T	22.37:g.38824098G>A	ENSP00000306497:p.Arg14Trp						p.R14W	NM_004981.1|NM_152868.2	NP_004972.1|NP_690607.1	P48050	IRK4_HUMAN			2	298	-	Melanoma(58;0.0286)		14					Q14D44	Missense_Mutation	SNP	ENST00000303592.3	37	c.40C>T	CCDS13971.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.055826	0.76074	.	.	ENSG00000168135	ENST00000303592	D	0.89875	-2.58	4.4	3.35	0.38373	.	0.770623	0.11384	N	0.569488	D	0.94062	0.8097	M	0.87180	2.865	0.47905	D	0.999547	D	0.76494	0.999	P	0.59115	0.852	D	0.92779	0.6239	10	0.72032	D	0.01	.	13.51	0.61506	0.0:0.0:0.8374:0.1626	.	14	P48050	IRK4_HUMAN	W	14	ENSP00000306497:R14W	ENSP00000306497:R14W	R	-	1	2	KCNJ4	37154044	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.994000	0.56994	0.927000	0.37143	0.555000	0.69702	CGG		0.642	KCNJ4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321447.1	NM_004981		8	346	0	0	0	1	0	8	346					A	38824098	G	A	38824098	3	1	10	1	0	0	0	0	1	0	0	0	8053	1115	39	2	1301	2	KCNJ4	22	38824098	Missense_Mutation	SNP	G	TCGA-2A-AAYU-01A-11D-A41K-08		38824098	12480468	36	352											
SPAG17	200162	broad.mit.edu	37	chr1	118526457	118526457	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gattaagatcagatgtatctTgaacagctgtttcgtttgca	11	15	9	6	1	2	3	1	1	1	2	3	4	2	3	0	0	3	5	0	0	3	5	rs548988281		TCGA-4L-AA1F-01A-11D-A41K-08	TCGA-4L-AA1F-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0222802-6dcc-4ec8-a7de-cb26d52f09ee	e3a32f56-a8b5-40ca-a15b-7714da6f0ac7	g.chr1:118526457T>C	ENST00000336338.5	-	42	5914	c.5849A>G	c.(5848-5850)cAa>cGa	p.Q1950R	SPAG17_ENST00000492438.1_5'UTR	NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	1950						cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)|sperm flagellum (GO:0036126)				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		AGATGTATCTTGAACAGCTGT	0.333																																						ENST00000336338.5																			0				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123						c.(5848-5850)cAa>cGa		sperm associated antigen 17							155	146	149					1																	118526457		2202	4300	6502	SO:0001583	missense	200162					cilium|flagellar axoneme|microtubule		g.chr1:118526457T>C		CCDS899.1	1p12	2014-01-21			ENSG00000155761	ENSG00000155761			26620	protein-coding gene	gene with protein product							Standard	NM_206996		Approved	FLJ34497, PF6, RP4-776P7.2, CT143	uc001ehk.2	Q6Q759	OTTHUMG00000012198	ENST00000336338.5:c.5849A>G	1.37:g.118526457T>C	ENSP00000337804:p.Gln1950Arg					SPAG17_ENST00000492438.1_5'UTR	p.Q1950R	NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN		Lung(183;0.0858)	42	5914	-	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)	1950					Q8NAZ1|Q9NT21	Missense_Mutation	SNP	ENST00000336338.5	37	c.5849A>G	CCDS899.1	.	.	.	.	.	.	.	.	.	.	T	5.648	0.304150	0.10678	.	.	ENSG00000155761	ENST00000336338;ENST00000437255	T	0.18960	2.18	4.5	-2.5	0.06384	.	1.486420	0.03872	N	0.275849	T	0.06508	0.0167	L	0.51422	1.61	0.09310	N	1	B	0.09022	0.002	B	0.10450	0.005	T	0.37820	-0.9689	10	0.35671	T	0.21	.	5.5924	0.17309	0.0:0.1772:0.4607:0.3621	.	1950	Q6Q759	SPG17_HUMAN	R	1950;430	ENSP00000337804:Q1950R	ENSP00000337804:Q1950R	Q	-	2	0	SPAG17	118327980	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.512000	0.06313	-0.566000	0.06054	-1.006000	0.02489	CAA		0.333	SPAG17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033723.1	NM_206996		3	30	0	0	0	1	0	3	30					C	118526457	T	C	118526457	3	2	11	1	0	0	0	0	1	0	0	0	14979	1812	63	4	850	4	SPAG17	1	118526457	Missense_Mutation	SNP	T	TCGA-4L-AA1F-01A-11D-A41K-08		118526457	130724164	1	353											
INSRR	3645	broad.mit.edu	37	chr1	156821758	156821758	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tgccgaaggtggaggcacggCcgggcacagagtgcaggctg	8	4	19	10	3	0	1	0	0	0	1	0	3	0	2	2	6	2	4	2	6	1	0			TCGA-4L-AA1F-01A-11D-A41K-08	TCGA-4L-AA1F-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0222802-6dcc-4ec8-a7de-cb26d52f09ee	e3a32f56-a8b5-40ca-a15b-7714da6f0ac7	g.chr1:156821758C>G	ENST00000368195.3	-	3	1259	c.863G>C	c.(862-864)gGc>gCc	p.G288A	NTRK1_ENST00000392302.2_Intron	NM_014215.2	NP_055030.1	P14616	INSRR_HUMAN	insulin receptor-related receptor	288					actin cytoskeleton reorganization (GO:0031532)|cellular response to alkaline pH (GO:0071469)|male sex determination (GO:0030238)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein autophosphorylation (GO:0046777)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	42	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					GGAGGCACGGCCGGGCACAGA	0.662																																						ENST00000368195.3																			0				breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	42						c.(862-864)gGc>gCc		insulin receptor-related receptor							28	26	26					1																	156821758		2203	4300	6503	SO:0001583	missense	3645				protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|insulin receptor substrate binding|metal ion binding|phosphatidylinositol 3-kinase binding|transmembrane receptor protein tyrosine kinase activity	g.chr1:156821758C>G	J05046	CCDS1160.1	1q21-q23	2013-02-11			ENSG00000027644	ENSG00000027644		"Fibronectin type III domain containing"	6093	protein-coding gene	gene with protein product		147671				2768234, 2249481	Standard	NM_014215		Approved	IRR	uc010pht.2	P14616	OTTHUMG00000041291	ENST00000368195.3:c.863G>C	1.37:g.156821758C>G	ENSP00000357178:p.Gly288Ala					NTRK1_ENST00000392302.2_Intron	p.G288A	NM_014215.2	NP_055030.1	P14616	INSRR_HUMAN			3	1259	-	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)		288					O60724|Q5VZS3	Missense_Mutation	SNP	ENST00000368195.3	37	c.863G>C	CCDS1160.1	.	.	.	.	.	.	.	.	.	.	C	10.89	1.478188	0.26511	.	.	ENSG00000027644	ENST00000368195	D	0.83335	-1.71	4.62	4.62	0.57501	Growth factor, receptor (1);Furin-like cysteine-rich domain (1);	0.138983	0.33161	N	0.005218	T	0.56124	0.1964	.	.	.	0.27619	N	0.948405	B	0.28128	0.201	B	0.35182	0.197	T	0.43147	-0.9409	9	0.12430	T	0.62	.	9.9508	0.41638	0.0:0.9057:0.0:0.0943	.	288	P14616	INSRR_HUMAN	A	288	ENSP00000357178:G288A	ENSP00000357178:G288A	G	-	2	0	INSRR	155088382	0.017000	0.18338	0.655000	0.29622	0.923000	0.55619	1.356000	0.34079	2.419000	0.82065	0.456000	0.33151	GGC		0.662	INSRR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098929.1	NM_014215		7	23	0	0	0	1	0	7	23					G	156821758	C	G	156821758	3	3	11	1	0	0	0	0	1	0	0	0	7774	739	26	5	3109	5	INSRR	1	156821758	Missense_Mutation	SNP	C	TCGA-4L-AA1F-01A-11D-A41K-08	38295301	156821758	92428863	2	354											
NTRK1	4914	broad.mit.edu	37	chr1	156849884	156849884	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agagcgacgtgtggagcttcGgcgtggtgctctgggagatc	6	9	18	8	4	1	2	0	0	1	2	3	5	1	3	0	4	3	2	0	4	0	1			TCGA-4L-AA1F-01A-11D-A41K-08	TCGA-4L-AA1F-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0222802-6dcc-4ec8-a7de-cb26d52f09ee	e3a32f56-a8b5-40ca-a15b-7714da6f0ac7	g.chr1:156849884G>A	ENST00000524377.1	+	16	2181	c.2140G>A	c.(2140-2142)Ggc>Agc	p.G714S	NTRK1_ENST00000368196.3_Missense_Mutation_p.G708S|NTRK1_ENST00000358660.3_Missense_Mutation_p.G711S|NTRK1_ENST00000392302.2_Missense_Mutation_p.G678S|NTRK1_ENST00000531606.1_3'UTR	NM_002529.3	NP_002520.2	P04629	NTRK1_HUMAN	neurotrophic tyrosine kinase, receptor, type 1	714	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		G -> S (in CIPA; processed as wild-type but shows significantly diminished autophosphorylation in both neuronal and non-neuronal cells). {ECO:0000269|PubMed:10330344}.		activation of adenylate cyclase activity (GO:0007190)|activation of MAPKK activity (GO:0000186)|activation of phospholipase C activity (GO:0007202)|aging (GO:0007568)|axon guidance (GO:0007411)|axonogenesis involved in innervation (GO:0060385)|B cell differentiation (GO:0030183)|cellular response to nerve growth factor stimulus (GO:1990090)|cellular response to nicotine (GO:0071316)|circadian rhythm (GO:0007623)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|developmental programmed cell death (GO:0010623)|learning or memory (GO:0007611)|mechanoreceptor differentiation (GO:0042490)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|olfactory nerve development (GO:0021553)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of angiogenesis (GO:0045766)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron projection development (GO:0010976)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of programmed cell death (GO:0043068)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Ras protein signal transduction (GO:0046579)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|Ras protein signal transduction (GO:0007265)|response to activity (GO:0014823)|response to axon injury (GO:0048678)|response to drug (GO:0042493)|response to electrical stimulus (GO:0051602)|response to ethanol (GO:0045471)|response to hydrostatic pressure (GO:0051599)|response to nutrient levels (GO:0031667)|response to radiation (GO:0009314)|Sertoli cell development (GO:0060009)|small GTPase mediated signal transduction (GO:0007264)|sympathetic nervous system development (GO:0048485)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	axon (GO:0030424)|cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|early endosome (GO:0005769)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|nerve growth factor binding (GO:0048406)|nerve growth factor receptor activity (GO:0010465)|neurotrophin binding (GO:0043121)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(35)|ovary(8)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	74	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)				Amitriptyline(DB00321)|Imatinib(DB00619)|Regorafenib(DB08896)	GTGGAGCTTCGGCGTGGTGCT	0.647			T	"TPM3, TPR, TFG"	papillary thyroid					TSP Lung(10;0.080)																												ENST00000368196.3				Dom	yes		1	1q21-q22	4914	T	"neurotrophic tyrosine kinase, receptor, type 1"			E	"TPM3, TPR, TFG"		papillary thyroid		0				breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(35)|ovary(8)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	74	GRCh37	CM990980	NTRK1	M		c.(2122-2124)Ggc>Agc		neurotrophic tyrosine kinase, receptor, type 1	Imatinib(DB00619)						95	87	89					1																	156849884		2203	4300	6503	SO:0001583	missense	4914				activation of adenylate cyclase activity|activation of MAPKK activity|activation of phospholipase C activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development|phosphatidylinositol-mediated signaling|Ras protein signal transduction	endosome|integral to plasma membrane	ATP binding|neurotrophin receptor activity|transmembrane receptor protein serine/threonine kinase activity|transmembrane receptor protein tyrosine kinase activity	g.chr1:156849884G>A	Y09028	CCDS1161.1, CCDS30890.1, CCDS30891.1	1q21-q22	2014-09-17			ENSG00000198400	ENSG00000198400	2.7.10.1	"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	8031	protein-coding gene	gene with protein product	"high affinity nerve growth factor receptor"	191315				2869410	Standard	NM_001007792		Approved	TRK, TRKA, MTC	uc001fqh.1	P04629	OTTHUMG00000041304	ENST00000524377.1:c.2140G>A	1.37:g.156849884G>A	ENSP00000431418:p.Gly714Ser	TSP Lung(10;0.080)				NTRK1_ENST00000524377.1_Missense_Mutation_p.G714S|NTRK1_ENST00000531606.1_3'UTR|NTRK1_ENST00000358660.3_Missense_Mutation_p.G711S|NTRK1_ENST00000392302.2_Missense_Mutation_p.G678S	p.G708S	NM_001012331.1	NP_001012331.1	P04629	NTRK1_HUMAN			15	2242	+	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)		714			Protein kinase.		B2R6T5|B7ZM34|P08119|Q15655|Q15656|Q5D056|Q5VZS2|Q7Z5C3|Q9UIU7	Missense_Mutation	SNP	ENST00000524377.1	37	c.2122G>A	CCDS1161.1	.	.	.	.	.	.	.	.	.	.	G	34	5.329148	0.95733	.	.	ENSG00000198400	ENST00000392302;ENST00000368196;ENST00000524377;ENST00000358660	D;D;D;D	0.99150	-5.49;-5.49;-5.49;-5.49	4.23	4.23	0.50019	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.56097	D	0.000023	D	0.99399	0.9788	M	0.91510	3.215	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	D	0.98607	1.0661	10	0.87932	D	0	.	15.7052	0.77573	0.0:0.0:1.0:0.0	.	711;708;714;678	A8K3Z4;P04629-2;P04629;A6NF12	.;.;NTRK1_HUMAN;.	S	678;708;714;711	ENSP00000376120:G678S;ENSP00000357179:G708S;ENSP00000431418:G714S;ENSP00000351486:G711S	ENSP00000351486:G711S	G	+	1	0	NTRK1	155116508	1.000000	0.71417	0.998000	0.56505	0.992000	0.81027	9.342000	0.97044	2.362000	0.80069	0.561000	0.74099	GGC		0.647	NTRK1-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000392279.1	NM_002529		3	71	0	0	0	1	0	3	71					A	156849884	G	A	156849884	3	1	11	1	0	0	0	0	1	0	0	0	10706	1116	39	2	2332	2	NTRK1	1	156849884	Missense_Mutation	SNP	G	TCGA-4L-AA1F-01A-11D-A41K-08	28126	156849884	92400737	3	355											
ASTN1	460	broad.mit.edu	37	chr1	176852023	176852023	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggtgtcaggttccaggcatcGtatgatcagagagatggtgg	9	10	16	6	1	2	3	2	1	0	2	4	4	3	3	1	5	0	3	1	5	1	2	rs199961480		TCGA-4L-AA1F-01A-11D-A41K-08	TCGA-4L-AA1F-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0222802-6dcc-4ec8-a7de-cb26d52f09ee	e3a32f56-a8b5-40ca-a15b-7714da6f0ac7	g.chr1:176852023G>A	ENST00000367654.3	-	20	3569	c.3358C>T	c.(3358-3360)Cga>Tga	p.R1120*	ASTN1_ENST00000361833.2_Nonsense_Mutation_p.R1112*|ASTN1_ENST00000424564.2_Nonsense_Mutation_p.R1112*|ASTN1_ENST00000367657.3_Nonsense_Mutation_p.R1112*	NM_004319.1	NP_004310.1	O14525	ASTN1_HUMAN	astrotactin 1	1120	Fibronectin type-III 1.				locomotory behavior (GO:0007626)|neuron cell-cell adhesion (GO:0007158)|neuron migration (GO:0001764)	endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						TCCAGGCATCGTATGATCAGA	0.502																																						ENST00000367654.2																			0				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						c.(3358-3360)Cga>Tga		astrotactin 1		G	stop/ARG,stop/ARG	1,4405	2.1+/-5.4	0,1,2202	177	148	158		3334,3334	3.7	0.4	1		158	0,8600		0,0,4300	yes	stop-gained,stop-gained	ASTN1	NM_004319.1,NM_207108.1	,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,	1112/1295,1112/1217	176852023	1,13005	2203	4300	6503	SO:0001587	stop_gained	460				cell migration|neuron cell-cell adhesion	integral to membrane		g.chr1:176852023G>A	AB006627	CCDS1319.1, CCDS44280.1, CCDS65732.1	1q25.2	2008-02-05	2006-08-24	2006-08-24	ENSG00000152092	ENSG00000152092			773	protein-coding gene	gene with protein product		600904	"astrotactin"	ASTN		9070947	Standard	NM_001286164		Approved		uc001glc.3	O14525	OTTHUMG00000035041	ENST00000367654.3:c.3358C>T	1.37:g.176852023G>A	ENSP00000356626:p.Arg1120*					ASTN1_ENST00000424564.2_Nonsense_Mutation_p.R1112*|ASTN1_ENST00000361833.2_Nonsense_Mutation_p.R1112*|ASTN1_ENST00000367657.3_Nonsense_Mutation_p.R1112*	p.R1120*			O14525	ASTN1_HUMAN			20	3371	-			1120			Fibronectin type-III 1.		A5PL12|B4DHI9|E9PFR8|O60799|Q5W0V7|Q5W0V8	Nonsense_Mutation	SNP	ENST00000367654.3	37	c.3358C>T		.	.	.	.	.	.	.	.	.	.	G	41	8.808908	0.98962	2.27E-4	0.0	ENSG00000152092	ENST00000367657;ENST00000361833;ENST00000367654;ENST00000424564;ENST00000541808	.	.	.	5.66	3.72	0.42706	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06365	T	0.9	-5.3356	14.3581	0.66752	0.0:0.0:0.7301:0.2699	.	.	.	.	X	1112;1112;1120;1112;1112	.	ENSP00000354536:R1112X	R	-	1	2	ASTN1	175118646	1.000000	0.71417	0.431000	0.26735	0.993000	0.82548	2.999000	0.49473	0.683000	0.31428	0.467000	0.42956	CGA		0.502	ASTN1-201	KNOWN	basic	protein_coding	protein_coding		NM_004319		8	38	0	0	0	1	0	8	38					A	176852023	G	A	176852023	4	1	11	1	0	0	0	0	0	1	0	0	1064	1153	40	1	570	1	ASTN1	1	176852023	Nonsense_Mutation	SNP	G	TCGA-4L-AA1F-01A-11D-A41K-08	20002139	176852023	72398598	4	356											
FSHR	2492	broad.mit.edu	37	chr2	49190290	49190290	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aggacacgatgttggggttcCgcactgtgaggtagatgtgg	8	10	17	6	2	0	2	0	1	0	1	1	4	1	3	1	5	0	4	1	5	1	3	rs150235567		TCGA-4L-AA1F-01A-11D-A41K-08	TCGA-4L-AA1F-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0222802-6dcc-4ec8-a7de-cb26d52f09ee	e3a32f56-a8b5-40ca-a15b-7714da6f0ac7	g.chr2:49190290C>T	ENST00000406846.2	-	10	1789	c.1670G>A	c.(1669-1671)cGg>cAg	p.R557Q	FSHR_ENST00000346173.3_Missense_Mutation_p.R495Q|FSHR_ENST00000304421.4_Missense_Mutation_p.R531Q|FSHR_ENST00000541117.1_Missense_Mutation_p.R293Q	NM_000145.3	NP_000136.2	P23945	FSHR_HUMAN	follicle stimulating hormone receptor	557					female gamete generation (GO:0007292)|female gonad development (GO:0008585)|follicle-stimulating hormone signaling pathway (GO:0042699)|G-protein coupled receptor signaling pathway (GO:0007186)|gonad development (GO:0008406)|male gonad development (GO:0008584)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	follicle-stimulating hormone receptor activity (GO:0004963)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|liver(1)|lung(45)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	73		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Suramin(DB04786)|Urofollitropin(DB00094)	GTTGGGGTTCCGCACTGTGAG	0.527									Gonadal Dysgenesis, 46 XX																													ENST00000406846.2																			0				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|liver(1)|lung(45)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	73						c.(1669-1671)cGg>cAg		follicle stimulating hormone receptor	Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Urofollitropin(DB00094)	C	GLN/ARG,GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	114	94	101		1670,1592	5.3	1	2	dbSNP_134	101	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	FSHR	NM_000145.3,NM_181446.2	43,43	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	probably-damaging,probably-damaging	557/696,531/670	49190290	2,13004	2203	4300	6503	SO:0001583	missense	0	Gonadal Dysgenesis, 46 XX	Familial Cancer Database		female gamete generation|male gonad development|spermatogenesis	integral to membrane|plasma membrane	follicle-stimulating hormone receptor activity|protein binding	g.chr2:49190290C>T		CCDS1843.1, CCDS1844.1, CCDS1844.2	2p21-p16	2014-09-17			ENSG00000170820	ENSG00000170820		"GPCR / Class A : Gonadotropin and TSH receptors"	3969	protein-coding gene	gene with protein product		136435		ODG1		8230163, 8855829	Standard	NM_000145		Approved	FSHRO, LGR1	uc002rww.3	P23945	OTTHUMG00000129259	ENST00000406846.2:c.1670G>A	2.37:g.49190290C>T	ENSP00000384708:p.Arg557Gln					FSHR_ENST00000346173.3_Missense_Mutation_p.R495Q|FSHR_ENST00000541117.1_Missense_Mutation_p.R293Q|FSHR_ENST00000304421.4_Missense_Mutation_p.R531Q	p.R557Q	NM_000145.3	NP_000136.2	P23945	FSHR_HUMAN	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		10	1789	-		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181)	557					A8K947|G5CBS7|G5E967|J3KQ00|Q05AH0|Q16225|Q4QRJ3|Q4ZFZ2|Q53RW2	Missense_Mutation	SNP	ENST00000406846.2	37	c.1670G>A	CCDS1843.1	.	.	.	.	.	.	.	.	.	.	C	16.80	3.223604	0.58668	2.27E-4	1.16E-4	ENSG00000170820	ENST00000406846;ENST00000346173;ENST00000304421;ENST00000541117	T;T;T;T	0.42131	0.98;0.98;0.98;0.98	5.35	5.35	0.76521	GPCR, rhodopsin-like superfamily (1);	0.048531	0.85682	D	0.000000	T	0.66896	0.2836	M	0.76938	2.355	0.52501	D	0.999956	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.996;0.999	T	0.65623	-0.6123	9	.	.	.	.	18.5892	0.91202	0.0:1.0:0.0:0.0	.	531;495;557	Q05AH0;G5E967;P23945	.;.;FSHR_HUMAN	Q	557;495;531;293	ENSP00000384708:R557Q;ENSP00000333908:R495Q;ENSP00000306780:R531Q;ENSP00000444172:R293Q	.	R	-	2	0	FSHR	49043794	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.628000	0.61282	2.941000	0.99782	0.655000	0.94253	CGG		0.527	FSHR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251367.2			4	28	0	0	0	1	0	4	28					T	49190290	C	T	49190290	3	4	11	1	0	0	0	0	1	0	0	0	6073	652	23	2	421	2	FSHR	2	49190290	Missense_Mutation	SNP	C	TCGA-4L-AA1F-01A-11D-A41K-08		49190290	194009083	5	357											
COBLL1	22837	broad.mit.edu	37	chr2	165551251	165551251	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagcatggacactcttggcaGctgcagatgtcacatagtga	11	9	11	10	0	2	2	1	1	1	1	2	3	2	3	0	2	3	4	0	2	1	2			TCGA-4L-AA1F-01A-11D-A41K-08	TCGA-4L-AA1F-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0222802-6dcc-4ec8-a7de-cb26d52f09ee	e3a32f56-a8b5-40ca-a15b-7714da6f0ac7	g.chr2:165551251G>A	ENST00000392717.2	-	13	2883	c.2879C>T	c.(2878-2880)gCt>gTt	p.A960V	COBLL1_ENST00000409184.3_Missense_Mutation_p.A922V|COBLL1_ENST00000342193.4_Missense_Mutation_p.A922V|COBLL1_ENST00000375458.2_Missense_Mutation_p.A884V|COBLL1_ENST00000194871.6_Missense_Mutation_p.A989V			Q53SF7	COBL1_HUMAN	cordon-bleu WH2 repeat protein-like 1	960						extracellular vesicular exosome (GO:0070062)				central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	47						ACTCTTGGCAGCTGCAGATGT	0.468																																						ENST00000375458.2																			0				central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	47						c.(2650-2652)gCt>gTt		cordon-bleu WH2 repeat protein-like 1							45	47	46					2																	165551251		2203	4300	6503	SO:0001583	missense	22837							g.chr2:165551251G>A	AB023194	CCDS2223.2, CCDS63045.1	2q24.3	2012-12-07	2012-12-07		ENSG00000082438	ENSG00000082438			23571	protein-coding gene	gene with protein product		610318	"COBL-like 1"				Standard	NM_001278458		Approved	KIAA0977	uc002ucp.3	Q53SF7	OTTHUMG00000074019	ENST00000392717.2:c.2879C>T	2.37:g.165551251G>A	ENSP00000376478:p.Ala960Val					COBLL1_ENST00000342193.4_Missense_Mutation_p.A922V|COBLL1_ENST00000392717.2_Missense_Mutation_p.A960V|COBLL1_ENST00000194871.6_Missense_Mutation_p.A989V|COBLL1_ENST00000409184.3_Missense_Mutation_p.A922V	p.A884V	NM_001278460.1|NM_001278461.1	NP_001265389.1|NP_001265390.1	Q53SF7	COBL1_HUMAN			11	2872	-			960					A6NMZ3|Q6IQ33|Q7Z3I6|Q9BRH4|Q9UG88|Q9Y2I3	Missense_Mutation	SNP	ENST00000392717.2	37	c.2651C>T		.	.	.	.	.	.	.	.	.	.	G	12.51	1.959312	0.34565	.	.	ENSG00000082438	ENST00000375458;ENST00000342193;ENST00000409184;ENST00000392717;ENST00000194871	.	.	.	6.03	5.15	0.70609	.	0.195954	0.38837	N	0.001542	T	0.34164	0.0888	L	0.50333	1.59	0.34903	D	0.746657	P;P;P	0.49559	0.809;0.925;0.547	B;B;B	0.38712	0.194;0.194;0.28	T	0.36065	-0.9763	9	0.09338	T	0.73	-20.5907	9.2406	0.37493	0.1561:0.0:0.8439:0.0	.	960;989;922	Q53SF7;B7Z2P5;Q53SF7-2	COBL1_HUMAN;.;.	V	884;922;922;960;989	.	ENSP00000194871:A989V	A	-	2	0	COBLL1	165259497	1.000000	0.71417	1.000000	0.80357	0.648000	0.38561	3.345000	0.52182	2.854000	0.98071	0.655000	0.94253	GCT		0.468	COBLL1-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_014900		3	40	0	0	0	1	0	3	40					A	165551251	G	A	165551251	3	1	11	1	0	0	0	0	1	0	0	0	3654	971	34	3	747	3	COBLL1	2	165551251	Missense_Mutation	SNP	G	TCGA-4L-AA1F-01A-11D-A41K-08	116360961	165551251	77648122	6	358											
LRIG1	26018	broad.mit.edu	37	chr3	66433531	66433531	+	Frame_Shift_Del	DEL	T	T	-																															agatgcctaccgtggtcccaTccttcctgcagcctgctgcg																										TCGA-4L-AA1F-01A-11D-A41K-08	TCGA-4L-AA1F-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0222802-6dcc-4ec8-a7de-cb26d52f09ee	e3a32f56-a8b5-40ca-a15b-7714da6f0ac7	g.chr3:66433531delT	ENST00000273261.3	-	15	2890	c.2366delA	c.(2365-2367)gatfs	p.D789fs	LRIG1_ENST00000496559.2_5'UTR|LRIG1_ENST00000383703.3_Frame_Shift_Del_p.D766fs|SLC25A26_ENST00000536651.1_Intron	NM_015541.2	NP_056356.2	Q96JA1	LRIG1_HUMAN	leucine-rich repeats and immunoglobulin-like domains 1	789					innervation (GO:0060384)|otolith morphogenesis (GO:0032474)|sensory perception of sound (GO:0007605)	integral component of membrane (GO:0016021)				NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(4)|stomach(4)|urinary_tract(1)	42		Lung NSC(201;0.0101)		BRCA - Breast invasive adenocarcinoma(55;0.00047)		CGTGGTCCCATCCTTCCTGCA	0.597																																						ENST00000383703.3																			0				NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(4)|stomach(4)|urinary_tract(1)	42						c.(2296-2298)gtfs		leucine-rich repeats and immunoglobulin-like domains 1							137	128	131					3																	66433531		2203	4300	6503	SO:0001589	frameshift_variant	26018					integral to membrane		g.chr3:66433531delT	AB050468	CCDS33783.1	3p14	2013-01-14			ENSG00000144749	ENSG00000144749		"Immunoglobulin superfamily / I-set domain containing"	17360	protein-coding gene	gene with protein product	"ortholog of mouse integral membrane glycoprotein LIG-1", "leucine-rich repeat protein LRIG1"	608868				11414704, 12234026	Standard	NM_015541		Approved	LIG-1, DKFZP586O1624, LIG1	uc003dmx.3	Q96JA1	OTTHUMG00000158727	ENST00000273261.3:c.2366delA	3.37:g.66433531delT	ENSP00000273261:p.Asp789fs					LRIG1_ENST00000496559.2_5'UTR|LRIG1_ENST00000273261.3_Frame_Shift_Del_p.D789fs|SLC25A26_ENST00000536651.1_Intron	p.D766fs			Q96JA1	LRIG1_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.00047)	16	2900	-		Lung NSC(201;0.0101)	789			Ig-like C2-type 3.		Q6IQ51|Q96CF9|Q9BYB8|Q9UFI4	Frame_Shift_Del	DEL	ENST00000273261.3	37	c.2297delA	CCDS33783.1																																																																																				0.597	LRIG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351930.1	NM_015541		36	99						36	99	---	---	---	---	-	66433531	T	-	66433531	7	5	11	1	0	1	0	1	0	0	0	0	8944	1435	50	0	935	0	LRIG1	3	66433531	Frame_Shift_Del	DEL	T	TCGA-4L-AA1F-01A-11D-A41K-08		66433531	131588899	7	359											
HRG	3273	broad.mit.edu	37	chr3	186386777	186386777	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtgcaagaatcggactgttcGgtcctatccaggaaatactg	11	10	11	9	2	0	1	0	0	0	1	4	3	2	3	2	3	2	2	2	3	5	3	rs143118011		TCGA-4L-AA1F-01A-11D-A41K-08	TCGA-4L-AA1F-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0222802-6dcc-4ec8-a7de-cb26d52f09ee	e3a32f56-a8b5-40ca-a15b-7714da6f0ac7	g.chr3:186386777G>A	ENST00000232003.4	+	2	317	c.237G>A	c.(235-237)tcG>tcA	p.S79S		NM_000412.2	NP_000403.1	P04196	HRG_HUMAN	histidine-rich glycoprotein	79	Cystatin 1.|Interaction with ATP5A1.		S -> L (in dbSNP:rs4516605).		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|chemotaxis (GO:0006935)|defense response to fungus (GO:0050832)|fibrinolysis (GO:0042730)|heme export (GO:0097037)|negative regulation of angiogenesis (GO:0016525)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell adhesion mediated by integrin (GO:0033629)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of endothelial cell chemotaxis (GO:2001027)|negative regulation of fibrinolysis (GO:0051918)|negative regulation of lamellipodium assembly (GO:0010593)|negative regulation of vascular endothelial growth factor signaling pathway (GO:1900747)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of apoptotic process (GO:0043065)|positive regulation of blood vessel remodeling (GO:2000504)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of immune response to tumor cell (GO:0002839)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|regulation of platelet activation (GO:0010543)|regulation of protein complex assembly (GO:0043254)|regulation of transcription from RNA polymerase II promoter in response to iron (GO:0034395)|response to organic cyclic compound (GO:0014070)	blood microparticle (GO:0072562)|endolysosome (GO:0036019)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|phagolysosome membrane (GO:0061474)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	cysteine-type endopeptidase inhibitor activity (GO:0004869)|heme binding (GO:0020037)|heparan sulfate proteoglycan binding (GO:0043395)|heparin binding (GO:0008201)|immunoglobulin binding (GO:0019865)|metal ion binding (GO:0046872)|receptor binding (GO:0005102)|serine-type endopeptidase inhibitor activity (GO:0004867)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(12)|lung(13)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	all_cancers(143;6.64e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.73e-20)	GBM - Glioblastoma multiforme(93;0.0683)		CGGACTGTTCGGTCCTATCCA	0.428													G|||	1	0.000199681	8e-04	0	5008	,	,		18840	0		0	False		,,,				2504	0					ENST00000232003.4																			0				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(12)|lung(13)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						c.(235-237)tcG>tcA		histidine-rich glycoprotein							117	113	114					3																	186386777		2203	4300	6503	SO:0001819	synonymous_variant	3273				fibrinolysis|platelet activation|platelet degranulation	extracellular region|plasma membrane|platelet alpha granule lumen	cysteine-type endopeptidase inhibitor activity|heparin binding	g.chr3:186386777G>A		CCDS3280.1	3q27	2008-07-18			ENSG00000113905	ENSG00000113905			5181	protein-coding gene	gene with protein product	"histidine-proline rich glycoprotein", "thrombophilia due to elevated HRG"	142640				1678514	Standard	NM_000412		Approved	HRGP, HPRG	uc003fqq.3	P04196	OTTHUMG00000156578	ENST00000232003.4:c.237G>A	3.37:g.186386777G>A							p.S79S	NM_000412.2	NP_000403.1	P04196	HRG_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;5.73e-20)	GBM - Glioblastoma multiforme(93;0.0683)	2	317	+	all_cancers(143;6.64e-12)|Ovarian(172;0.0339)		79		S -> L (in dbSNP:rs4516605).	Cystatin 1.|Interaction with ATP5A1.		B9EK35|D3DNU7	Silent	SNP	ENST00000232003.4	37	c.237G>A	CCDS3280.1																																																																																				0.428	HRG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344655.1	NM_000412		4	70	0	0	0	1	0	4	70					A	186386777	G	A	186386777	2	1	11	1	0	0	0	0	0	0	0	1	7354	1103	39	2		2	HRG	3	186386777	Silent	SNP	G	TCGA-4L-AA1F-01A-11D-A41K-08	119953246	186386777	11635653	8	360											
ZBTB49	166793	broad.mit.edu	37	chr4	4317416	4317416	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tattattcactcaggagaaaAaccacacttgtgtgacatct	14	12	6	9	0	3	2	2	1	1	1	3	3	3	2	1	1	1	0	1	1	4	4			TCGA-4L-AA1F-01A-11D-A41K-08	TCGA-4L-AA1F-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0222802-6dcc-4ec8-a7de-cb26d52f09ee	e3a32f56-a8b5-40ca-a15b-7714da6f0ac7	g.chr4:4317416A>G	ENST00000337872.4	+	6	1551	c.1430A>G	c.(1429-1431)aAa>aGa	p.K477R	ZBTB49_ENST00000538529.1_5'UTR|ZBTB49_ENST00000355834.3_Intron	NM_145291.3	NP_660334.3	Q6ZSB9	ZBT49_HUMAN	zinc finger and BTB domain containing 49	477					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	28						TCAGGAGAAAAACCACACTTG	0.398																																						ENST00000337872.4																			0				breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	28						c.(1429-1431)aAa>aGa		zinc finger and BTB domain containing 49							102	103	103					4																	4317416		2203	4300	6503	SO:0001583	missense	166793				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr4:4317416A>G	AK095878	CCDS3375.1	4p16.2	2013-01-08	2010-01-26	2010-01-26	ENSG00000168826	ENSG00000168826		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	19883	protein-coding gene	gene with protein product			"zinc finger protein 509"	ZNF509		12477932	Standard	NM_145291		Approved	FLJ38559	uc003ghu.3	Q6ZSB9	OTTHUMG00000090325	ENST00000337872.4:c.1430A>G	4.37:g.4317416A>G	ENSP00000338807:p.Lys477Arg					ZBTB49_ENST00000355834.3_Intron|ZBTB49_ENST00000538529.1_5'UTR	p.K477R	NM_145291.3	NP_660334.3	Q6ZSB9	ZBT49_HUMAN			6	1551	+			477					Q59FJ4|Q5EBN0|Q8TB80	Missense_Mutation	SNP	ENST00000337872.4	37	c.1430A>G	CCDS3375.1	.	.	.	.	.	.	.	.	.	.	A	29.5	5.007280	0.93287	.	.	ENSG00000168826	ENST00000337872	T	0.24908	1.83	5.45	5.45	0.79879	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.64402	D	0.000012	T	0.37156	0.0993	N	0.21282	0.65	0.80722	D	1	D	0.56746	0.977	D	0.68621	0.959	T	0.26155	-1.0111	10	0.66056	D	0.02	.	15.5161	0.75826	1.0:0.0:0.0:0.0	.	477	Q6ZSB9	ZBT49_HUMAN	R	477	ENSP00000338807:K477R	ENSP00000338807:K477R	K	+	2	0	ZBTB49	4368317	1.000000	0.71417	0.990000	0.47175	0.996000	0.88848	6.706000	0.74649	2.079000	0.62486	0.379000	0.24179	AAA		0.398	ZBTB49-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206688.3	NM_145291		7	37	0	0	0	1	0	7	37					G	4317416	A	G	4317416	3	3	11	1	0	0	0	0	1	0	0	0	17547	14	1	4	1448	4	ZBTB49	4	4317416	Missense_Mutation	SNP	A	TCGA-4L-AA1F-01A-11D-A41K-08		4317416	186836860	9	361											
F2R	2149	broad.mit.edu	37	chr5	76028613	76028613	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	attttactgtaacatgtacgCctctatcttgctcatgacag	10	15	6	10	1	3	1	1	1	2	0	3	1	3	1	1	0	4	3	1	0	4	6			TCGA-4L-AA1F-01A-11D-A41K-08	TCGA-4L-AA1F-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0222802-6dcc-4ec8-a7de-cb26d52f09ee	e3a32f56-a8b5-40ca-a15b-7714da6f0ac7	g.chr5:76028613C>T	ENST00000319211.4	+	2	828	c.563C>T	c.(562-564)gCc>gTc	p.A188V		NM_001992.3	NP_001983.2	P25116	PAR1_HUMAN	coagulation factor II (thrombin) receptor	188					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of MAPKK activity (GO:0000186)|anatomical structure morphogenesis (GO:0009653)|blood coagulation (GO:0007596)|connective tissue replacement involved in inflammatory response wound healing (GO:0002248)|establishment of synaptic specificity at neuromuscular junction (GO:0007529)|G-protein coupled receptor signaling pathway (GO:0007186)|homeostasis of number of cells within a tissue (GO:0048873)|inflammatory response (GO:0006954)|negative regulation of cell proliferation (GO:0008285)|negative regulation of glomerular filtration (GO:0003105)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of renin secretion into blood stream (GO:1900134)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|platelet activation (GO:0030168)|platelet dense granule organization (GO:0060155)|positive regulation of blood coagulation (GO:0030194)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-6 secretion (GO:2000778)|positive regulation of interleukin-8 secretion (GO:2000484)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of Rho protein signal transduction (GO:0035025)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of vasoconstriction (GO:0045907)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of blood coagulation (GO:0030193)|regulation of interleukin-1 beta production (GO:0032651)|regulation of sensory perception of pain (GO:0051930)|release of sequestered calcium ion into cytosol (GO:0051209)|response to lipopolysaccharide (GO:0032496)|response to wounding (GO:0009611)|STAT protein import into nucleus (GO:0007262)|tyrosine phosphorylation of STAT protein (GO:0007260)	caveola (GO:0005901)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|platelet dense tubular network (GO:0031094)|postsynaptic membrane (GO:0045211)	G-protein alpha-subunit binding (GO:0001965)|G-protein beta-subunit binding (GO:0031681)|G-protein coupled receptor activity (GO:0004930)|receptor binding (GO:0005102)|thrombin receptor activity (GO:0015057)			NS(1)|breast(1)|endometrium(3)|kidney(1)|lung(7)|ovary(3)	16		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Prostate(461;0.00955)|Ovarian(174;0.0129)		all cancers(79;4.43e-43)	Streptokinase(DB00086)	AACATGTACGCCTCTATCTTG	0.493																																						ENST00000319211.4																			0				NS(1)|breast(1)|endometrium(3)|kidney(1)|lung(7)|ovary(3)	16						c.(562-564)gCc>gTc		coagulation factor II (thrombin) receptor	Streptokinase(DB00086)						190	188	189					5																	76028613		2203	4300	6503	SO:0001583	missense	2149				activation of caspase activity|anatomical structure morphogenesis|connective tissue replacement involved in inflammatory response wound healing|negative regulation of cell proliferation|platelet activation|positive regulation of blood coagulation|positive regulation of cell migration|positive regulation of collagen biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of JAK-STAT cascade|positive regulation of MAPKKK cascade|positive regulation of release of sequestered calcium ion into cytosol|positive regulation of transcription, DNA-dependent|STAT protein import into nucleus|tyrosine phosphorylation of STAT protein	caveola|extracellular region|Golgi apparatus|integral to plasma membrane|platelet dense tubular network	receptor binding|thrombin receptor activity	g.chr5:76028613C>T	M62424	CCDS4032.1	5q13	2012-08-08			ENSG00000181104	ENSG00000181104		"GPCR / Class A : Protease activated receptors"	3537	protein-coding gene	gene with protein product		187930				8395910	Standard	NM_001992		Approved	TR, CF2R, PAR1, PAR-1	uc003ken.4	P25116	OTTHUMG00000131299	ENST00000319211.4:c.563C>T	5.37:g.76028613C>T	ENSP00000321326:p.Ala188Val						p.A188V	NM_001992.3	NP_001983.2	P25116	PAR1_HUMAN		all cancers(79;4.43e-43)	2	828	+		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Prostate(461;0.00955)|Ovarian(174;0.0129)	188					Q53XV0|Q96RF7|Q9BUN4	Missense_Mutation	SNP	ENST00000319211.4	37	c.563C>T	CCDS4032.1	.	.	.	.	.	.	.	.	.	.	C	29.2	4.989875	0.93106	.	.	ENSG00000181104	ENST00000319211	T	0.75704	-0.96	4.89	4.89	0.63831	GPCR, rhodopsin-like superfamily (1);	0.103989	0.64402	D	0.000003	T	0.81847	0.4909	M	0.63169	1.94	0.80722	D	1	D	0.61080	0.989	P	0.62298	0.9	T	0.83144	-0.0107	10	0.72032	D	0.01	-32.3572	12.8734	0.57978	0.0:0.7058:0.2942:0.0	.	188	P25116	PAR1_HUMAN	V	188	ENSP00000321326:A188V	ENSP00000321326:A188V	A	+	2	0	F2R	76064369	1.000000	0.71417	1.000000	0.80357	0.928000	0.56348	6.768000	0.74980	2.684000	0.91462	0.561000	0.74099	GCC		0.493	F2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254068.2			11	129	0	0	0	1	0	11	129					T	76028613	C	T	76028613	3	4	11	1	0	0	0	0	1	0	0	0	5343	739	26	3	569	3	F2R	5	76028613	Missense_Mutation	SNP	C	TCGA-4L-AA1F-01A-11D-A41K-08		76028613	104886647	10	362											
PPP2CA	5515	broad.mit.edu	37	chr5	133541656	133541656	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ctgtttcaactgaataatatCctctgtcaacataatctccc	12	14	3	12	0	4	1	2	1	2	0	6	1	5	1	2	0	2	1	2	0	6	4			TCGA-4L-AA1F-01A-11D-A41K-08	TCGA-4L-AA1F-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0222802-6dcc-4ec8-a7de-cb26d52f09ee	e3a32f56-a8b5-40ca-a15b-7714da6f0ac7	g.chr5:133541656C>T	ENST00000481195.1	-	2	549	c.269G>A	c.(268-270)gGa>gAa	p.G90E	PPP2CA_ENST00000231504.5_5'UTR|CDKL3_ENST00000609654.1_Missense_Mutation_p.G440E|CTD-2410N18.5_ENST00000519718.1_Intron|CTD-2410N18.4_ENST00000518409.1_RNA|CDKL3_ENST00000609383.1_3'UTR	NM_002715.2	NP_002706.1	P67775	PP2AA_HUMAN	protein phosphatase 2, catalytic subunit, alpha isozyme	90					apoptotic process (GO:0006915)|ceramide metabolic process (GO:0006672)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|inactivation of MAPK activity (GO:0000188)|meiotic nuclear division (GO:0007126)|mesoderm development (GO:0007498)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope reassembly (GO:0007084)|mRNA metabolic process (GO:0016071)|negative regulation of cell growth (GO:0030308)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of tyrosine phosphorylation of Stat3 protein (GO:0042518)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|protein dephosphorylation (GO:0006470)|protein heterotrimerization (GO:0070208)|regulation of cell adhesion (GO:0030155)|regulation of cell differentiation (GO:0045595)|regulation of DNA replication (GO:0006275)|regulation of growth (GO:0040008)|regulation of protein autophosphorylation (GO:0031952)|regulation of protein catabolic process (GO:0042176)|regulation of receptor activity (GO:0010469)|regulation of transcription, DNA-templated (GO:0006355)|regulation of Wnt signaling pathway (GO:0030111)|response to organic substance (GO:0010033)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|second-messenger-mediated signaling (GO:0019932)	chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein phosphatase type 2A complex (GO:0000159)	metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)			endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|skin(1)	12			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		Vitamin E(DB00163)	TGAATAATATCCTCTGTCAAC	0.368																																						ENST00000481195.1																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|skin(1)	12						c.(268-270)gGa>gAa		protein phosphatase 2, catalytic subunit, alpha isozyme							113	107	109					5																	133541656		2203	4300	6503	SO:0001583	missense	5515							g.chr5:133541656C>T		CCDS4173.1	5q31.1	2013-01-24	2010-03-05		ENSG00000113575	ENSG00000113575	3.1.3.16	"Serine/threonine phosphatases / Protein phosphatase, catalytic subunits"	9299	protein-coding gene	gene with protein product	"protein phosphatase 2A catalytic subunit, alpha isoform"	176915	"protein phosphatase 2 (formerly 2A), catalytic subunit, alpha isoform"			8383590	Standard	NM_002715		Approved	PP2Calpha		P67775	OTTHUMG00000129119	ENST00000481195.1:c.269G>A	5.37:g.133541656C>T	ENSP00000418447:p.Gly90Glu					CDKL3_ENST00000518409.1_5'UTR|PPP2CA_ENST00000231504.5_5'UTR	p.G90E	NM_002715.2	NP_002706.1			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		2	549	-								P05323|P13197	Missense_Mutation	SNP	ENST00000481195.1	37	c.269G>A	CCDS4173.1	.	.	.	.	.	.	.	.	.	.	C	33	5.235209	0.95207	.	.	ENSG00000113575	ENST00000481195;ENST00000522385;ENST00000523082	T;T;T	0.28255	1.62;1.62;1.62	5.34	5.34	0.76211	Serine/threonine-specific protein phosphatase/bis(5-nucleosyl)-tetraphosphatase (2);Metallophosphoesterase domain (1);	0.000000	0.85682	D	0.000000	T	0.80944	0.4721	H	0.99998	5.56	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.91540	0.5249	10	0.87932	D	0	-11.2342	19.3944	0.94601	0.0:1.0:0.0:0.0	.	440;90	B7Z2C5;P67775	.;PP2AA_HUMAN	E	90;25;77	ENSP00000418447:G90E;ENSP00000430869:G25E;ENSP00000428816:G77E	ENSP00000418447:G90E	G	-	2	0	PPP2CA	133569555	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.776000	0.85560	2.665000	0.90641	0.591000	0.81541	GGA		0.368	PPP2CA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251165.1	NM_002715		10	34	0	0	0	1	0	10	34					T	133541656	C	T	133541656	3	4	11	1	0	0	0	0	1	0	0	0	12380	855	30	3	684	3	PPP2CA	5	133541656	Missense_Mutation	SNP	C	TCGA-4L-AA1F-01A-11D-A41K-08	57513043	133541656	47373604	11	363											
ODZ2	57451	broad.mit.edu	37	chr5	167545362	167545362	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggacgtgccagtgctacagcGgctggaaaggtgcagagtgc	9	6	17	9	2	0	1	0	0	0	1	0	3	0	3	1	4	6	3	1	4	2	1			TCGA-4L-AA1F-01A-11D-A41K-08	TCGA-4L-AA1F-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0222802-6dcc-4ec8-a7de-cb26d52f09ee	e3a32f56-a8b5-40ca-a15b-7714da6f0ac7	g.chr5:167545362G>A	ENST00000518659.1	+	10	1918	c.1879G>A	c.(1879-1881)Ggc>Agc	p.G627S	TENM2_ENST00000403607.2_Missense_Mutation_p.G460S|TENM2_ENST00000545108.1_Missense_Mutation_p.G627S|CTB-178M22.1_ENST00000517408.1_RNA|TENM2_ENST00000519204.1_Missense_Mutation_p.G506S|TENM2_ENST00000520394.1_Missense_Mutation_p.G395S	NM_001122679.1	NP_001116151.1	Q9NT68	TEN2_HUMAN	teneurin transmembrane protein 2	627	EGF-like 2. {ECO:0000255|PROSITE- ProRule:PRU00076}.				axon guidance (GO:0007411)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|heterophilic cell-cell adhesion (GO:0007157)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of filopodium assembly (GO:0051491)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cell-cell junction (GO:0005911)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|endoplasmic reticulum (GO:0005783)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)										GTGCTACAGCGGCTGGAAAGG	0.567																																						ENST00000519204.1																			0											c.(1516-1518)Ggc>Agc		teneurin transmembrane protein 2							161	164	163					5																	167545362		2144	4254	6398	SO:0001583	missense	57451							g.chr5:167545362G>A	AB032953		5q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000145934	ENSG00000145934			29943	protein-coding gene	gene with protein product		610119	"odz, odd Oz/ten-m homolog 2 (Drosophila)"	ODZ2		10625539	Standard	NM_001122679		Approved	KIAA1127, Ten-M2	uc010jjd.3	Q9NT68	OTTHUMG00000162928	ENST00000518659.1:c.1879G>A	5.37:g.167545362G>A	ENSP00000429430:p.Gly627Ser					TENM2_ENST00000403607.2_Missense_Mutation_p.G460S|CTB-178M22.1_ENST00000517408.1_RNA|TENM2_ENST00000518659.1_Missense_Mutation_p.G627S|TENM2_ENST00000520394.1_Missense_Mutation_p.G395S|TENM2_ENST00000545108.1_Missense_Mutation_p.G627S	p.G506S							9	1634	+								Q9ULU2	Missense_Mutation	SNP	ENST00000518659.1	37	c.1516G>A		.	.	.	.	.	.	.	.	.	.	G	35	5.466967	0.96257	.	.	ENSG00000145934	ENST00000518659;ENST00000545108;ENST00000519204;ENST00000520394;ENST00000403607	T;T;T;T;T	0.14022	2.54;2.54;2.54;2.54;2.54	4.79	4.79	0.61399	EGF-like region, conserved site (2);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	D	0.000000	T	0.45935	0.1367	M	0.89353	3.025	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.997;1.0	T	0.57946	-0.7723	10	0.87932	D	0	.	17.8545	0.88759	0.0:0.0:1.0:0.0	.	627;395;506	Q9NT68;F8VNQ3;G3V106	TEN2_HUMAN;.;.	S	627;627;506;395;460	ENSP00000429430:G627S;ENSP00000438635:G627S;ENSP00000428964:G506S;ENSP00000427874:G395S;ENSP00000384905:G460S	ENSP00000384905:G460S	G	+	1	0	ODZ2	167477940	1.000000	0.71417	0.998000	0.56505	0.969000	0.65631	9.869000	0.99810	2.208000	0.71279	0.563000	0.77884	GGC		0.567	TENM2-001	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000376096.1	NM_001122679		33	95	0	0	0	1	0	33	95					A	167545362	G	A	167545362	3	1	11	1	0	0	0	0	1	0	0	0	10835	1116	39	2	1917	2	ODZ2	5	167545362	Missense_Mutation	SNP	G	TCGA-4L-AA1F-01A-11D-A41K-08	34003706	167545362	13369898	12	364											
TREML2	79865	broad.mit.edu	37	chr6	41166145	41166163	+	Frame_Shift_Del	DEL	GTATACACTGTCAGCAGAG	GTATACACTGTCAGCAGAG	-																															tcaaggagcctcacttttgtGtatacactgtcagcagaggg																								rs77704965|rs35260020|rs144159694|rs71544266|rs61998254|rs62396355|rs564406669|rs41273772	byFrequency	TCGA-4L-AA1F-01A-11D-A41K-08	TCGA-4L-AA1F-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0222802-6dcc-4ec8-a7de-cb26d52f09ee	e3a32f56-a8b5-40ca-a15b-7714da6f0ac7	g.chr6:41166145_41166163delGTATACACTGTCAGCAGAG	ENST00000483722.1	-	2	245_263	c.60_78delCTCTGCTGACAGTGTATAC	c.(58-78)ccctctgctgacagtgtatacfs	p.PSADSVY20fs		NM_024807.2	NP_079083.2	Q5T2D2	TRML2_HUMAN	triggering receptor expressed on myeloid cells-like 2	20	Ig-like V-type.				T cell activation (GO:0042110)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			breast(1)|central_nervous_system(1)|large_intestine(1)|lung(13)|ovary(1)|prostate(1)	18	Ovarian(28;0.0418)|Colorectal(47;0.196)					TCACTTTTGTGTATACACTGTCAGCAGAGGGGCCTGTGG	0.47																																						ENST00000483722.1																			0				breast(1)|central_nervous_system(1)|large_intestine(1)|lung(13)|ovary(1)|prostate(1)	18						c.(58-78)ccfs		triggering receptor expressed on myeloid cells-like 2																																				SO:0001589	frameshift_variant	79865				T cell activation	cell surface|integral to membrane|plasma membrane	protein binding|receptor activity	g.chr6:41166145_41166163delGTATACACTGTCAGCAGAG	AK023755	CCDS4853.1, CCDS4853.2	6p21.1	2013-01-11	2004-04-14	2004-04-16	ENSG00000112195	ENSG00000112195		"Immunoglobulin superfamily / V-set domain containing"	21092	protein-coding gene	gene with protein product	"TREM-like transcript 2"	609715	"chromosome 6 open reading frame 76"	C6orf76		12645956	Standard	NM_024807		Approved	FLJ13693, TLT2, dJ238O23.1	uc010jxm.1	Q5T2D2	OTTHUMG00000016349	ENST00000483722.1:c.60_78delCTCTGCTGACAGTGTATAC	6.37:g.41166145_41166163delGTATACACTGTCAGCAGAG	ENSP00000418767:p.Pro20fs						p.PSADSVY20fs	NM_024807.2	NP_079083.2	Q5T2D2	TRML2_HUMAN			2	245_263	-	Ovarian(28;0.0418)|Colorectal(47;0.196)		20			Ig-like V-type.		Q08AP8|Q08AP9|Q8IWY0|Q9H8E9	Frame_Shift_Del	DEL	ENST00000483722.1	37	c.60_78delCTCTGCTGACAGTGTATAC	CCDS4853.2																																																																																				0.47	TREML2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043756.3	NM_024807		9	117						9	117	---	---	---	---	-	41166163	GTATACACTGTCAGCAGAG	-	41166145	7	5	11	1	0	1	0	1	0	0	0	0	16470	1372	48	0	903	0	TREML2	6	41166145	Frame_Shift_Del	DEL	GTATACACTGTCAGCAGAG	TCGA-4L-AA1F-01A-11D-A41K-08		41166145	129948922	13	365											
RFPL4B	442247	broad.mit.edu	37	chr6	112671564	112671564	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gatgctgacttagaagaaatCcagttttttgatgttgacaa	13	14	9	5	0	0	5	0	3	0	2	1	6	1	5	1	0	1	3	1	0	4	5	rs577059806		TCGA-4L-AA1F-01A-11D-A41K-08	TCGA-4L-AA1F-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0222802-6dcc-4ec8-a7de-cb26d52f09ee	e3a32f56-a8b5-40ca-a15b-7714da6f0ac7	g.chr6:112671564C>A	ENST00000441065.2	+	3	966	c.654C>A	c.(652-654)atC>atA	p.I218I	RP11-506B6.6_ENST00000590673.1_RNA|RP11-506B6.6_ENST00000587816.1_RNA|RP11-506B6.6_ENST00000585611.1_RNA	NM_001013734.2	NP_001013756.2	Q6ZWI9	RFPLB_HUMAN	ret finger protein-like 4B	218	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.						zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|skin(1)	14		all_cancers(87;9.44e-05)|all_hematologic(75;0.000114)|all_epithelial(87;0.00265)|Colorectal(196;0.0209)		all cancers(137;0.0202)|OV - Ovarian serous cystadenocarcinoma(136;0.0477)|Epithelial(106;0.0646)|GBM - Glioblastoma multiforme(226;0.0866)|BRCA - Breast invasive adenocarcinoma(108;0.244)		TAGAAGAAATCCAGTTTTTTG	0.458																																						ENST00000441065.2																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|skin(1)	14						c.(652-654)atC>atA		ret finger protein-like 4B							67	63	64					6																	112671564		2203	4300	6503	SO:0001819	synonymous_variant	442247						zinc ion binding	g.chr6:112671564C>A	AK122906	CCDS34515.1	6q21	2007-04-24			ENSG00000251258	ENSG00000251258		"RING-type (C3HC4) zinc fingers"	33264	protein-coding gene	gene with protein product							Standard	NM_001013734		Approved	RNF211	uc003pvx.1	Q6ZWI9	OTTHUMG00000015390	ENST00000441065.2:c.654C>A	6.37:g.112671564C>A							p.I218I	NM_001013734.2	NP_001013756.2	Q6ZWI9	RFPLB_HUMAN		all cancers(137;0.0202)|OV - Ovarian serous cystadenocarcinoma(136;0.0477)|Epithelial(106;0.0646)|GBM - Glioblastoma multiforme(226;0.0866)|BRCA - Breast invasive adenocarcinoma(108;0.244)	3	966	+		all_cancers(87;9.44e-05)|all_hematologic(75;0.000114)|all_epithelial(87;0.00265)|Colorectal(196;0.0209)	218			B30.2/SPRY.		A2RU91	Silent	SNP	ENST00000441065.2	37	c.654C>A	CCDS34515.1																																																																																				0.458	RFPL4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041885.2	NM_001013734		7	46	1	0	3.09899e-07	1	3.61548e-07	7	46					A	112671564	C	A	112671564	2	1	11	1	0	0	0	0	0	0	0	1	13256	845	30	5		5	RFPL4B	6	112671564	Silent	SNP	C	TCGA-4L-AA1F-01A-11D-A41K-08	71505419	112671564	58443503	14	366											
BCLAF1	9774	broad.mit.edu	37	chr6	136599145	136599145	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcgtgaagggatgtgatgaaTtggactattctgagaaggac	12	11	14	4	1	1	4	0	4	1	1	2	8	1	7	0	3	0	0	0	3	4	3			TCGA-4L-AA1F-01A-11D-A41K-08	TCGA-4L-AA1F-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0222802-6dcc-4ec8-a7de-cb26d52f09ee	e3a32f56-a8b5-40ca-a15b-7714da6f0ac7	g.chr6:136599145T>C	ENST00000531224.1	-	4	1126	c.874A>G	c.(874-876)Att>Gtt	p.I292V	BCLAF1_ENST00000530767.1_Missense_Mutation_p.I292V|BCLAF1_ENST00000392348.2_Missense_Mutation_p.I290V|BCLAF1_ENST00000353331.4_Missense_Mutation_p.I290V|BCLAF1_ENST00000527536.1_Missense_Mutation_p.I292V|BCLAF1_ENST00000527759.1_Missense_Mutation_p.I290V	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1	292					apoptotic process (GO:0006915)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA-templated transcription, initiation (GO:2000144)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of response to DNA damage stimulus (GO:2001022)|regulation of DNA-templated transcription in response to stress (GO:0043620)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		ATGTGATGAATTGGACTATTC	0.463																																					Colon(142;1534 1789 5427 7063 28491)	ENST00000531224.1																			0				haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9						c.(874-876)Att>Gtt		BCL2-associated transcription factor 1							99	86	91					6																	136599145		2203	4300	6503	SO:0001583	missense	9774				induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding	g.chr6:136599145T>C	AF249273	CCDS5177.1, CCDS47485.1, CCDS47486.1, CCDS75525.1	6q22-q23	2007-03-02			ENSG00000029363	ENSG00000029363			16863	protein-coding gene	gene with protein product		612588				8724849, 10330179	Standard	NM_001077440		Approved	KIAA0164, BTF	uc003qgx.1	Q9NYF8	OTTHUMG00000033323	ENST00000531224.1:c.874A>G	6.37:g.136599145T>C	ENSP00000435210:p.Ile292Val					BCLAF1_ENST00000527759.1_Missense_Mutation_p.I290V|BCLAF1_ENST00000527536.1_Missense_Mutation_p.I292V|BCLAF1_ENST00000392348.2_Missense_Mutation_p.I290V|BCLAF1_ENST00000530767.1_Missense_Mutation_p.I292V|BCLAF1_ENST00000353331.4_Missense_Mutation_p.I290V	p.I292V	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN		GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)	4	1126	-	Colorectal(23;0.24)		292					A2RU75|B7ZM58|E1P586|Q14673|Q86WU6|Q86WY0	Missense_Mutation	SNP	ENST00000531224.1	37	c.874A>G	CCDS5177.1	.	.	.	.	.	.	.	.	.	.	T	6.860	0.528080	0.13127	.	.	ENSG00000029363	ENST00000531224;ENST00000353331;ENST00000527536;ENST00000530767;ENST00000527759;ENST00000392348;ENST00000529826	T;T;T;T;T;T;T	0.13420	2.59;2.59;2.59;2.59;2.59;2.59;2.59	5.82	4.66	0.58398	.	0.135266	0.42682	D	0.000680	T	0.01558	0.0050	N	0.08118	0	0.80722	D	1	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.01281	0.0;0.0;0.0;0.0	T	0.41124	-0.9526	10	0.10636	T	0.68	-6.1196	3.5592	0.07875	0.1132:0.0731:0.2771:0.5366	.	290;290;292;292	Q9NYF8-2;Q9NYF8-3;Q9NYF8;Q9NYF8-4	.;.;BCLF1_HUMAN;.	V	292;290;292;292;290;290;292	ENSP00000435210:I292V;ENSP00000229446:I290V;ENSP00000435441:I292V;ENSP00000436501:I292V;ENSP00000434826:I290V;ENSP00000376159:I290V;ENSP00000431734:I292V	ENSP00000229446:I290V	I	-	1	0	BCLAF1	136640838	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.166000	0.31834	1.025000	0.39708	0.528000	0.53228	ATT		0.463	BCLAF1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042375.2	NM_014739		5	73	0	0	0	1	0	5	73					C	136599145	T	C	136599145	3	2	11	1	0	0	0	0	1	0	0	0	1383	1493	52	4	1928	4	BCLAF1	6	136599145	Missense_Mutation	SNP	T	TCGA-4L-AA1F-01A-11D-A41K-08	23927581	136599145	34515922	15	367											
ULBP1	80329	broad.mit.edu	37	chr6	150289967	150289967	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggtggatttccttaaagggCaactgcttgacattcaagtg	10	13	11	7	0	1	1	1	1	0	0	2	2	2	2	1	3	2	2	1	3	4	4			TCGA-4L-AA1F-01A-11D-A41K-08	TCGA-4L-AA1F-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0222802-6dcc-4ec8-a7de-cb26d52f09ee	e3a32f56-a8b5-40ca-a15b-7714da6f0ac7	g.chr6:150289967C>T	ENST00000229708.3	+	2	353	c.310C>T	c.(310-312)Caa>Taa	p.Q104*		NM_025218.2	NP_079494.1	Q9BZM6	N2DL1_HUMAN	UL16 binding protein 1	104	MHC class I alpha-1 like.				antigen processing and presentation (GO:0019882)|natural killer cell activation (GO:0030101)|natural killer cell mediated cytotoxicity (GO:0042267)|regulation of immune response (GO:0050776)	anchored component of plasma membrane (GO:0046658)|endoplasmic reticulum (GO:0005783)|plasma membrane (GO:0005886)	natural killer cell lectin-like receptor binding (GO:0046703)			large_intestine(3)|lung(5)|pancreas(1)|skin(1)	10		Ovarian(120;0.0907)	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;2.14e-11)		CCTTAAAGGGCAACTGCTTGA	0.413																																						ENST00000229708.2																			0				large_intestine(3)|lung(5)|pancreas(1)|skin(1)	10						c.(310-312)Caa>Taa		UL16 binding protein 1							88	93	92					6																	150289967		2203	4300	6503	SO:0001587	stop_gained	80329				antigen processing and presentation|immune response|natural killer cell activation|regulation of immune response	anchored to membrane|endoplasmic reticulum|MHC class I protein complex	MHC class I receptor activity	g.chr6:150289967C>T	AF304377	CCDS5223.1	6q25	2003-04-29			ENSG00000111981	ENSG00000111981			14893	protein-coding gene	gene with protein product		605697				11239445, 11827464	Standard	XM_005267151		Approved	RAET1I	uc003qnp.3	Q9BZM6	OTTHUMG00000015810	ENST00000229708.3:c.310C>T	6.37:g.150289967C>T	ENSP00000229708:p.Gln104*					ULBP1_ENST00000367345.1_Nonsense_Mutation_p.Q104*	p.Q104*	NM_025218.2	NP_079494.1	Q9BZM6	N2DL1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;2.14e-11)	2	353	+		Ovarian(120;0.0907)	104			MHC class I alpha-1 like.		Q5VY81|Q8IZW3|Q8IZX6	Nonsense_Mutation	SNP	ENST00000229708.3	37	c.310C>T	CCDS5223.1	.	.	.	.	.	.	.	.	.	.	c	10.71	1.426956	0.25726	.	.	ENSG00000111981	ENST00000367345;ENST00000229708	.	.	.	1.89	-1.62	0.08372	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	0.6452	0.00817	0.2437:0.3425:0.2407:0.173	.	.	.	.	X	104	.	ENSP00000229708:Q104X	Q	+	1	0	ULBP1	150331660	0.000000	0.05858	0.000000	0.03702	0.058000	0.15608	-4.055000	0.00304	-0.482000	0.06782	0.305000	0.20034	CAA		0.413	ULBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042677.2			16	64	0	0	0	1	0	16	64					T	150289967	C	T	150289967	4	4	11	1	0	0	0	0	0	1	0	0	16969	711	25	3	316	3	ULBP1	6	150289967	Nonsense_Mutation	SNP	C	TCGA-4L-AA1F-01A-11D-A41K-08	13690822	150289967	20825100	16	368											
FGL2	10875	broad.mit.edu	37	chr7	76828504	76828504	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attattatacatacctggacGtgactgtatttgttcttggc	9	17	8	7	1	1	1	0	1	1	0	1	2	1	2	1	2	2	2	1	2	5	8			TCGA-4L-AA1F-01A-11D-A41K-08	TCGA-4L-AA1F-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0222802-6dcc-4ec8-a7de-cb26d52f09ee	e3a32f56-a8b5-40ca-a15b-7714da6f0ac7	g.chr7:76828504G>T	ENST00000248598.5	-	1	639	c.607C>A	c.(607-609)Cgt>Agt	p.R203S	RP11-467H10.2_ENST00000459742.1_RNA|CCDC146_ENST00000431197.1_Intron|CCDC146_ENST00000285871.4_Intron	NM_006682.2	NP_006673.1	Q14314	FGL2_HUMAN	fibrinogen-like 2	203						extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)		p.R203S(1)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(2)	13						ATACCTGGACGTGACTGTATT	0.323																																						ENST00000248598.5																			1	Substitution - Missense(1)	p.R203S(1)	prostate(1)	breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(2)	13						c.(607-609)Cgt>Agt		fibrinogen-like 2							115	113	114					7																	76828504		2203	4300	6503	SO:0001583	missense	10875				signal transduction	fibrinogen complex	receptor binding	g.chr7:76828504G>T	Z36531	CCDS5591.1	7q11.23	2013-02-06			ENSG00000127951	ENSG00000127951		"Fibrinogen C domain containing"	3696	protein-coding gene	gene with protein product		605351				7642106	Standard	NM_006682		Approved	pT49, T49	uc003ugb.3	Q14314	OTTHUMG00000130681	ENST00000248598.5:c.607C>A	7.37:g.76828504G>T	ENSP00000248598:p.Arg203Ser					CCDC146_ENST00000285871.4_Intron|CCDC146_ENST00000431197.1_Intron	p.R203S	NM_006682.2	NP_006673.1	Q14314	FGL2_HUMAN			1	639	-			203						Missense_Mutation	SNP	ENST00000248598.5	37	c.607C>A	CCDS5591.1	.	.	.	.	.	.	.	.	.	.	G	10.11	1.260032	0.23051	.	.	ENSG00000127951	ENST00000248598	T	0.57752	0.38	6.17	-0.872	0.10638	.	1.751190	0.02594	N	0.100349	T	0.26557	0.0649	N	0.01874	-0.695	0.09310	N	1	B	0.09022	0.002	B	0.08055	0.003	T	0.24154	-1.0168	10	0.09338	T	0.73	.	11.8083	0.52169	0.0:0.0962:0.2882:0.6156	.	203	Q14314	FGL2_HUMAN	S	203	ENSP00000248598:R203S	ENSP00000248598:R203S	R	-	1	0	FGL2	76666440	0.001000	0.12720	0.000000	0.03702	0.988000	0.76386	0.531000	0.23052	0.113000	0.18004	0.655000	0.94253	CGT		0.323	FGL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253176.1	NM_006682		5	87	1	0	0.000602214	1	0.000655745	5	87					T	76828504	G	T	76828504	3	4	11	1	0	0	0	0	1	0	0	0	5873	1145	40	5	720	5	FGL2	7	76828504	Missense_Mutation	SNP	G	TCGA-4L-AA1F-01A-11D-A41K-08		76828504	82310159	17	369											
C7orf64	84060	broad.mit.edu	37	chr7	92164118	92164118	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gacaacacaactgcaggagcGcaaaagaagaagagaagatg	20	2	12	7	1	0	4	0	0	0	4	0	7	0	5	0	1	4	2	0	1	7	0	rs200432326		TCGA-4L-AA1F-01A-11D-A41K-08	TCGA-4L-AA1F-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0222802-6dcc-4ec8-a7de-cb26d52f09ee	e3a32f56-a8b5-40ca-a15b-7714da6f0ac7	g.chr7:92164118G>A	ENST00000265732.5	+	4	892	c.851G>A	c.(850-852)cGc>cAc	p.R284H	RBM48_ENST00000481551.1_Missense_Mutation_p.R284H	NM_032120.2	NP_115496.2	Q5RL73	RBM48_HUMAN	RNA binding motif protein 48	284						nucleus (GO:0005634)	RNA binding (GO:0003723)	p.R284H(1)									CTGCAGGAGCGCAAAAGAAGA	0.428																																						ENST00000481551.1																			1	Substitution - Missense(1)	p.R284H(1)	lung(1)								c.(850-852)cGc>cAc		RNA binding motif protein 48		G	HIS/ARG	0,3810		0,0,1905	58	58	58		851	5.4	1	7		58	4,8210		0,4,4103	yes	missense	C7orf64	NM_032120.2	29	0,4,6008	AA,AG,GG		0.0487,0.0,0.0333	probably-damaging	284/368	92164118	4,12020	1905	4107	6012	SO:0001583	missense	84060						nucleotide binding	g.chr7:92164118G>A	AL136619	CCDS43615.1	7q21.2	2013-02-12	2011-12-09	2011-12-09	ENSG00000127993	ENSG00000127993		"RNA binding motif (RRM) containing"	21785	protein-coding gene	gene with protein product			"chromosome 7 open reading frame 64"	C7orf64			Standard	NM_032120		Approved	DKFZp564O0523, HSPC304	uc003ulz.3	Q5RL73	OTTHUMG00000159535	ENST00000265732.5:c.851G>A	7.37:g.92164118G>A	ENSP00000265732:p.Arg284His					RBM48_ENST00000265732.5_Missense_Mutation_p.R284H	p.R284H			Q5RL73	CG064_HUMAN			4	892	+			284					B7Z2K5|B7ZL51|Q5H9T2|Q8IYW7|Q96NS0|Q9H0V7	Missense_Mutation	SNP	ENST00000265732.5	37	c.851G>A	CCDS43615.1	.	.	.	.	.	.	.	.	.	.	G	19.22	3.784595	0.70222	0.0	4.87E-4	ENSG00000127993	ENST00000265732;ENST00000481551;ENST00000450580	.	.	.	5.37	5.37	0.77165	.	0.199667	0.49916	D	0.000131	T	0.76800	0.4038	L	0.53249	1.67	0.58432	D	0.999999	D;D	0.89917	1.0;0.966	D;B	0.79108	0.992;0.272	T	0.77892	-0.2418	9	0.87932	D	0	2.361	19.3052	0.94158	0.0:0.0:1.0:0.0	.	284;284	B7Z2K5;Q5RL73	.;CG064_HUMAN	H	284	.	ENSP00000265732:R284H	R	+	2	0	C7orf64	92002054	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	7.144000	0.77357	2.793000	0.96121	0.591000	0.81541	CGC		0.428	RBM48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356076.1	NM_032120		3	41	0	0	0	1	0	3	41					A	92164118	G	A	92164118	3	1	11	1	0	0	0	0	1	0	0	0	2410	1087	38	1	865	1	C7orf64	7	92164118	Missense_Mutation	SNP	G	TCGA-4L-AA1F-01A-11D-A41K-08	15335614	92164118	66974545	18	370											
SNX16	64089	broad.mit.edu	37	chr8	82727590	82727590	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tctaggctatcaaatggaccCggtggatcatccaaacaaag	14	8	9	10	1	3	0	2	0	1	0	4	2	4	2	2	4	1	1	2	4	5	2			TCGA-4L-AA1F-01A-11D-A41K-08	TCGA-4L-AA1F-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0222802-6dcc-4ec8-a7de-cb26d52f09ee	e3a32f56-a8b5-40ca-a15b-7714da6f0ac7	g.chr8:82727590C>A	ENST00000345957.4	-	5	929	c.651G>T	c.(649-651)ccG>ccT	p.P217P	SNX16_ENST00000353788.4_Silent_p.P188P|SNX16_ENST00000396330.2_Silent_p.P217P|RP13-923O23.6_ENST00000524337.1_RNA	NM_152836.2	NP_690049.1	P57768	SNX16_HUMAN	sorting nexin 16	217	PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.				early endosome to late endosome transport (GO:0045022)|endosome to lysosome transport (GO:0008333)|protein targeting to lysosome (GO:0006622)	early endosome (GO:0005769)|extrinsic component of endosome membrane (GO:0031313)|late endosome (GO:0005770)|lysosome (GO:0005764)	identical protein binding (GO:0042802)|phosphatidylinositol binding (GO:0035091)			large_intestine(1)|ovary(1)|pancreas(1)|skin(2)	5						CAAATGGACCCGGTGGATCAT	0.338																																						ENST00000396330.2																			0				large_intestine(1)|ovary(1)|pancreas(1)|skin(2)	5						c.(649-651)ccG>ccT		sorting nexin 16							100	90	94					8																	82727590		2203	4300	6503	SO:0001819	synonymous_variant	64089				cell communication|early endosome to late endosome transport|endosome to lysosome transport|protein targeting to lysosome	early endosome membrane|extrinsic to endosome membrane|late endosome membrane|lysosome	identical protein binding|phosphatidylinositol binding	g.chr8:82727590C>A	AF305779	CCDS6234.1, CCDS6235.1	8q21.13	2011-05-03			ENSG00000104497	ENSG00000104497		"Sorting nexins"	14980	protein-coding gene	gene with protein product		614903				12461558, 12813048	Standard	NM_152837		Approved		uc003ycn.3	P57768	OTTHUMG00000164727	ENST00000345957.4:c.651G>T	8.37:g.82727590C>A						SNX16_ENST00000353788.4_Silent_p.P188P|SNX16_ENST00000345957.4_Silent_p.P217P|RP13-923O23.6_ENST00000524337.1_RNA	p.P217P	NM_022133.3	NP_071416.2	P57768	SNX16_HUMAN			6	1157	-			217			PX.		A8K4D8|Q658L0|Q8N4U3	Silent	SNP	ENST00000345957.4	37	c.651G>T	CCDS6234.1																																																																																				0.338	SNX16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379929.1	NM_022133		6	36	1	0	1.06961e-07	1	1.27832e-07	6	36					A	82727590	C	A	82727590	2	1	11	1	0	0	0	0	0	0	0	1	14887	639	23	5		5	SNX16	8	82727590	Silent	SNP	C	TCGA-4L-AA1F-01A-11D-A41K-08		82727590	63636432	19	371											
DMRT1	1761	broad.mit.edu	37	chr9	916850	916850	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcttacctgggccagagcGtgccccagttcttcactttt	5	13	8	15	1	3	1	1	0	2	1	3	1	3	1	5	1	3	1	5	1	1	5	rs141672484		TCGA-4L-AA1F-01A-11D-A41K-08	TCGA-4L-AA1F-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0222802-6dcc-4ec8-a7de-cb26d52f09ee	e3a32f56-a8b5-40ca-a15b-7714da6f0ac7	g.chr9:916850G>A	ENST00000382276.3	+	4	1059	c.910G>A	c.(910-912)Gtg>Atg	p.V304M	DMRT1_ENST00000569227.1_Missense_Mutation_p.V146M	NM_021951.2	NP_068770.2	Q9Y5R6	DMRT1_HUMAN	doublesex and mab-3 related transcription factor 1	304					cell morphogenesis (GO:0000902)|germ cell migration (GO:0008354)|intracellular signal transduction (GO:0035556)|male germ cell proliferation (GO:0002176)|male sex determination (GO:0030238)|male sex differentiation (GO:0046661)|negative regulation of meiosis (GO:0045835)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|oocyte development (GO:0048599)|positive regulation of male gonad development (GO:2000020)|positive regulation of meiosis I (GO:0060903)|positive regulation of mitosis (GO:0045840)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of nodal signaling pathway (GO:1900107)|Sertoli cell development (GO:0060009)|Sertoli cell differentiation (GO:0060008)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			large_intestine(2)|lung(10)|ovary(1)	13		all_lung(10;2.66e-10)|Lung NSC(10;2.82e-10)|Breast(48;0.232)		Lung(218;0.037)		GGGCCAGAGCGTGCCCCAGTT	0.542													G|||	1	0.000199681	8e-04	0	5008	,	,		17880	0		0	False		,,,				2504	0					ENST00000382276.3																			0				large_intestine(2)|lung(10)|ovary(1)	13						c.(910-912)Gtg>Atg		doublesex and mab-3 related transcription factor 1		G	MET/VAL	4,4402	8.1+/-20.4	0,4,2199	128	107	114		910	-2	0.2	9	dbSNP_134	114	0,8600		0,0,4300	no	missense	DMRT1	NM_021951.2	21	0,4,6499	AA,AG,GG		0.0,0.0908,0.0308	benign	304/374	916850	4,13002	2203	4300	6503	SO:0001583	missense	1761				cell differentiation|male gonad development|sex determination	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity	g.chr9:916850G>A	AF130728	CCDS6442.1	9p24.3	2014-01-21			ENSG00000137090	ENSG00000137090			2934	protein-coding gene	gene with protein product	"DM domain expressed in testis 1"	602424				9490411, 10332030	Standard	XM_006716732		Approved	DMT1, CT154	uc003zgv.3	Q9Y5R6	OTTHUMG00000019435	ENST00000382276.3:c.910G>A	9.37:g.916850G>A	ENSP00000371711:p.Val304Met					DMRT1_ENST00000569227.1_Missense_Mutation_p.V146M	p.V304M	NM_021951.2	NP_068770.2	Q9Y5R6	DMRT1_HUMAN		Lung(218;0.037)	4	1059	+		all_lung(10;2.66e-10)|Lung NSC(10;2.82e-10)|Breast(48;0.232)	304					B2R913|Q6T1H8|Q6T1H9|Q8IW77	Missense_Mutation	SNP	ENST00000382276.3	37	c.910G>A	CCDS6442.1	.	.	.	.	.	.	.	.	.	.	G	9.140	1.013705	0.19277	9.08E-4	0.0	ENSG00000137090	ENST00000382276	T	0.28454	1.61	5.44	-1.98	0.07480	.	0.867320	0.10094	N	0.716827	T	0.25306	0.0615	L	0.52266	1.64	0.09310	N	1	B	0.22480	0.07	B	0.13407	0.009	T	0.21008	-1.0258	10	0.40728	T	0.16	.	9.7344	0.40379	0.5402:0.0:0.4598:0.0	.	304	Q9Y5R6	DMRT1_HUMAN	M	304	ENSP00000371711:V304M	ENSP00000371711:V304M	V	+	1	0	DMRT1	906850	0.002000	0.14202	0.246000	0.24233	0.587000	0.36485	-0.583000	0.05807	-0.632000	0.05553	-0.812000	0.03155	GTG		0.542	DMRT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051489.2	NM_021951		9	30	0	0	0	1	0	9	30					A	916850	G	A	916850	3	1	11	1	0	0	0	0	1	0	0	0	4585	1145	40	1	924	1	DMRT1	9	916850	Missense_Mutation	SNP	G	TCGA-4L-AA1F-01A-11D-A41K-08		916850	140296581	20	372											
IFT74	80173	broad.mit.edu	37	chr9	27062709	27062709	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caataaaaccatcgtggatgCtttacatagcaccagcggaa	15	8	8	10	2	0	0	0	0	0	0	1	2	0	2	2	2	5	2	2	2	6	4			TCGA-4L-AA1F-01A-11D-A41K-08	TCGA-4L-AA1F-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0222802-6dcc-4ec8-a7de-cb26d52f09ee	e3a32f56-a8b5-40ca-a15b-7714da6f0ac7	g.chr9:27062709C>A	ENST00000443698.1	+	20	1949	c.1778C>A	c.(1777-1779)gCt>gAt	p.A593D	IFT74_ENST00000380062.5_Missense_Mutation_p.A593D|IFT74_ENST00000433700.1_Missense_Mutation_p.A593D	NM_001099222.1	NP_001092692.1	Q96LB3	IFT74_HUMAN	intraflagellar transport 74	593					cilium assembly (GO:0042384)|intraciliary transport involved in cilium morphogenesis (GO:0035735)|keratinocyte development (GO:0003334)|negative regulation of epithelial cell proliferation (GO:0050680)|Notch signaling pathway (GO:0007219)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasmic vesicle (GO:0031410)|intraciliary transport particle B (GO:0030992)|motile cilium (GO:0031514)|nucleus (GO:0005634)	beta-tubulin binding (GO:0048487)|chromatin binding (GO:0003682)			endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|skin(1)	6		all_neural(11;2.36e-10)		Lung(218;1.4e-05)|LUSC - Lung squamous cell carcinoma(38;0.000114)		ATCGTGGATGCTTTACATAGC	0.388																																						ENST00000443698.1																			0				endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|skin(1)	6						c.(1777-1779)gCt>gAt		intraflagellar transport 74 homolog (Chlamydomonas)							102	94	96					9																	27062709		1870	4099	5969	SO:0001583	missense	80173					cytoplasmic membrane-bounded vesicle|intraflagellar transport particle B|microtubule-based flagellum		g.chr9:27062709C>A	AK023707	CCDS43793.1, CCDS47955.1	9p21.1	2014-07-03	2014-07-03	2005-11-02	ENSG00000096872	ENSG00000096872		"Intraflagellar transport homologs"	21424	protein-coding gene	gene with protein product	"capillary morphogenesis protein 1"	608040	"coiled-coil domain containing 2", "intraflagellar transport 74 homolog (Chlamydomonas)"	CCDC2		11683410	Standard	NM_001099223		Approved	CMG1, CMG-1, FLJ22621	uc003zqg.4	Q96LB3	OTTHUMG00000021028	ENST00000443698.1:c.1778C>A	9.37:g.27062709C>A	ENSP00000404122:p.Ala593Asp					IFT74_ENST00000380062.5_Missense_Mutation_p.A593D|IFT74_ENST00000433700.1_Missense_Mutation_p.A593D	p.A593D	NM_001099222.1	NP_001092692.1	Q96LB3	IFT74_HUMAN		Lung(218;1.4e-05)|LUSC - Lung squamous cell carcinoma(38;0.000114)	20	1949	+		all_neural(11;2.36e-10)	593					Q3B789|Q5VY34|Q6PGQ8|Q9H643|Q9H8G7	Missense_Mutation	SNP	ENST00000443698.1	37	c.1778C>A	CCDS43793.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.985062	0.74474	.	.	ENSG00000096872	ENST00000433700;ENST00000443698;ENST00000380062	T;T;T	0.12039	2.72;2.72;2.72	6.07	6.07	0.98685	.	0.304109	0.34507	N	0.003904	T	0.19248	0.0462	L	0.51422	1.61	0.51233	D	0.999911	P	0.42203	0.773	B	0.40534	0.332	T	0.00287	-1.1846	10	0.41790	T	0.15	-3.8062	20.6525	0.99598	0.0:1.0:0.0:0.0	.	593	Q96LB3	IFT74_HUMAN	D	593	ENSP00000389224:A593D;ENSP00000404122:A593D;ENSP00000369402:A593D	ENSP00000369402:A593D	A	+	2	0	IFT74	27052709	1.000000	0.71417	1.000000	0.80357	0.927000	0.56198	2.358000	0.44134	2.890000	0.99128	0.585000	0.79938	GCT		0.388	IFT74-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055476.2	NM_025103		3	62	1	0	6.4e-05	1	7.29302e-05	3	62					A	27062709	C	A	27062709	3	1	11	1	0	0	0	0	1	0	0	0	7563	797	28	5	1921	5	IFT74	9	27062709	Missense_Mutation	SNP	C	TCGA-4L-AA1F-01A-11D-A41K-08	26145859	27062709	114150722	21	373											
NET1	10276	broad.mit.edu	37	chr10	5493864	5493864	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatttaatctctcctgtaagAaatggagctgtcagacgttt	12	14	8	7	1	2	2	1	0	1	2	4	3	3	3	1	1	1	3	1	1	4	4			TCGA-4L-AA1F-01A-11D-A41K-08	TCGA-4L-AA1F-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0222802-6dcc-4ec8-a7de-cb26d52f09ee	e3a32f56-a8b5-40ca-a15b-7714da6f0ac7	g.chr10:5493864A>C	ENST00000355029.4	+	4	469	c.327A>C	c.(325-327)agA>agC	p.R109S	NET1_ENST00000542715.1_5'UTR|NET1_ENST00000380359.3_Missense_Mutation_p.R55S	NM_001047160.2	NP_001040625.1	Q7Z628	ARHG8_HUMAN	neuroepithelial cell transforming 1	109					apoptotic signaling pathway (GO:0097190)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to ionizing radiation (GO:0071479)|myoblast migration (GO:0051451)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|regulation of cell growth (GO:0001558)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(4)|kidney(2)|large_intestine(9)|lung(5)|prostate(2)|skin(1)	23						CTCCTGTAAGAAATGGAGCTG	0.403																																						ENST00000355029.4																			0				breast(4)|kidney(2)|large_intestine(9)|lung(5)|prostate(2)|skin(1)	23						c.(325-327)agA>agC		neuroepithelial cell transforming 1							137	144	142					10																	5493864		2203	4300	6503	SO:0001583	missense	10276				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of cell growth|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|nucleus	Rho guanyl-nucleotide exchange factor activity	g.chr10:5493864A>C	AJ010046	CCDS7067.1, CCDS41483.1	10p15	2013-01-10	2008-09-12		ENSG00000173848	ENSG00000173848		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	14592	protein-coding gene	gene with protein product		606450				8649828	Standard	NR_073040		Approved	ARHGEF8, NET1A	uc001iia.4	Q7Z628	OTTHUMG00000017596	ENST00000355029.4:c.327A>C	10.37:g.5493864A>C	ENSP00000347134:p.Arg109Ser					NET1_ENST00000380359.3_Missense_Mutation_p.R55S|NET1_ENST00000542715.1_5'UTR	p.R109S	NM_001047160.1	NP_001040625.1	Q7Z628	ARHG8_HUMAN			4	469	+			109					Q12773|Q96D82|Q99903|Q9UEN6	Missense_Mutation	SNP	ENST00000355029.4	37	c.327A>C	CCDS41483.1	.	.	.	.	.	.	.	.	.	.	A	15.49	2.850504	0.51270	.	.	ENSG00000173848	ENST00000355029;ENST00000380359	T;T	0.11821	2.77;2.74	5.73	5.73	0.89815	.	0.000000	0.46145	D	0.000320	T	0.18467	0.0443	M	0.66939	2.045	0.80722	D	1	B;B	0.28439	0.212;0.212	B;B	0.25987	0.065;0.065	T	0.01345	-1.1379	10	0.41790	T	0.15	-23.0059	14.8453	0.70257	1.0:0.0:0.0:0.0	.	55;109	Q5SQI7;Q7Z628	.;ARHG8_HUMAN	S	109;55	ENSP00000347134:R109S;ENSP00000369717:R55S	ENSP00000347134:R109S	R	+	3	2	NET1	5483864	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	4.036000	0.57304	2.185000	0.69588	0.460000	0.39030	AGA		0.403	NET1-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000046553.3	NM_005863		15	103	0	0	0	1	0	15	103					C	5493864	A	C	5493864	3	2	11	1	0	0	0	0	1	0	0	0	10338	243	9	5	438	5	NET1	10	5493864	Missense_Mutation	SNP	A	TCGA-4L-AA1F-01A-11D-A41K-08		5493864	130040883	22	374											
MYO3A	53904	broad.mit.edu	37	chr10	26446395	26446395	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttctggaaacagcaagaattCgaagactaggattctcccat	14	10	8	9	1	2	2	0	0	2	2	4	5	2	4	1	2	2	1	1	2	5	4			TCGA-4L-AA1F-01A-11D-A41K-08	TCGA-4L-AA1F-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0222802-6dcc-4ec8-a7de-cb26d52f09ee	e3a32f56-a8b5-40ca-a15b-7714da6f0ac7	g.chr10:26446395C>T	ENST00000265944.5	+	26	3116	c.2950C>T	c.(2950-2952)Cga>Tga	p.R984*	MYO3A_ENST00000543632.1_Intron	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	984	Myosin motor.				ATP catabolic process (GO:0006200)|inner ear development (GO:0048839)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of filopodium assembly (GO:0051491)|protein autophosphorylation (GO:0046777)|response to stimulus (GO:0050896)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|filamentous actin (GO:0031941)|filopodium (GO:0030175)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|photoreceptor inner segment (GO:0001917)|stereocilium bundle tip (GO:0032426)	actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|plus-end directed microfilament motor activity (GO:0060002)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.R984*(3)		NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						AGCAAGAATTCGAAGACTAGG	0.363																																						ENST00000265944.5																			3	Substitution - Nonsense(3)	p.R984*(3)	large_intestine(3)	NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						c.(2950-2952)Cga>Tga		myosin IIIA							113	110	111					10																	26446395		2203	4300	6503	SO:0001587	stop_gained	53904				protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity	g.chr10:26446395C>T	AF229172	CCDS7148.1	10p11.1	2011-09-27	2004-05-19		ENSG00000095777	ENSG00000095777		"Myosins / Myosin superfamily : Class III"	7601	protein-coding gene	gene with protein product		606808	"deafness, autosomal recessive 30"	DFNB30		10936054	Standard	NM_017433		Approved		uc001isn.2	Q8NEV4	OTTHUMG00000017837	ENST00000265944.5:c.2950C>T	10.37:g.26446395C>T	ENSP00000265944:p.Arg984*					MYO3A_ENST00000543632.1_Intron	p.R984*	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN			26	3116	+			984			Myosin head-like.		Q4G0X2|Q5VZ28|Q8WX17|Q9NYS8	Nonsense_Mutation	SNP	ENST00000265944.5	37	c.2950C>T	CCDS7148.1	.	.	.	.	.	.	.	.	.	.	C	42	9.671764	0.99234	.	.	ENSG00000095777	ENST00000265944	.	.	.	5.07	5.07	0.68467	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	18.8211	0.92097	0.0:1.0:0.0:0.0	.	.	.	.	X	984	.	ENSP00000265944:R984X	R	+	1	2	MYO3A	26486401	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	3.217000	0.51184	2.524000	0.85096	0.655000	0.94253	CGA		0.363	MYO3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047259.1	NM_017433		20	73	0	0	0	1	0	20	73					T	26446395	C	T	26446395	4	4	11	1	0	0	0	0	0	1	0	0	10076	876	31	2	3044	2	MYO3A	10	26446395	Nonsense_Mutation	SNP	C	TCGA-4L-AA1F-01A-11D-A41K-08	20952531	26446395	109088352	23	375											
PTEN	5728	broad.mit.edu	37	chr10	89720803	89720804	+	Frame_Shift_Del	DEL	TA	TA	-																															gacaaggaatatctagtactTactttaacaaaaaatgatct																								rs398123330		TCGA-4L-AA1F-01A-11D-A41K-08	TCGA-4L-AA1F-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0222802-6dcc-4ec8-a7de-cb26d52f09ee	e3a32f56-a8b5-40ca-a15b-7714da6f0ac7	g.chr10:89720803_89720804delTA	ENST00000371953.3	+	8	2311_2312	c.954_955delTA	c.(952-957)cttactfs	p.T319fs	PTEN_ENST00000472832.1_3'UTR	NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	319	C2 tensin-type. {ECO:0000255|PROSITE- ProRule:PRU00589}.		Missing (in glioma; reduced tumor suppressor activity; fails to inactivate AKT/PKB). {ECO:0000269|PubMed:9090379}.		activation of mitotic anaphase-promoting complex activity (GO:0007092)|aging (GO:0007568)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|brain morphogenesis (GO:0048854)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle tissue development (GO:0048738)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|central nervous system myelin maintenance (GO:0032286)|central nervous system neuron axonogenesis (GO:0021955)|dendritic spine morphogenesis (GO:0060997)|dentate gyrus development (GO:0021542)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|innate immune response (GO:0045087)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|learning or memory (GO:0007611)|locomotor rhythm (GO:0045475)|locomotory behavior (GO:0007626)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|male mating behavior (GO:0060179)|maternal behavior (GO:0042711)|memory (GO:0007613)|multicellular organismal response to stress (GO:0033555)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell aging (GO:0090344)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031658)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myelination (GO:0031642)|negative regulation of organ growth (GO:0046621)|negative regulation of phagocytosis (GO:0050765)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of ribosome biogenesis (GO:0090071)|negative regulation of synaptic vesicle clustering (GO:2000808)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell proliferation (GO:0008284)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|postsynaptic density assembly (GO:0097107)|prepulse inhibition (GO:0060134)|presynaptic membrane assembly (GO:0097105)|prostate gland growth (GO:0060736)|protein dephosphorylation (GO:0006470)|protein kinase B signaling (GO:0043491)|protein stabilization (GO:0050821)|regulation of B cell apoptotic process (GO:0002902)|regulation of cellular component size (GO:0032535)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of neuron projection development (GO:0010975)|regulation of protein stability (GO:0031647)|response to arsenic-containing substance (GO:0046685)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse maturation (GO:0060074)|T cell receptor signaling pathway (GO:0050852)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|myelin sheath adaxonal region (GO:0035749)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)	anaphase-promoting complex binding (GO:0010997)|enzyme binding (GO:0019899)|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity (GO:0051717)|lipid binding (GO:0008289)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity (GO:0051800)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.0?(37)|p.L318fs*2(27)|p.T319fs*1(24)|p.T319fs*6(6)|p.R55fs*1(5)|p.V317fs*3(4)|p.?(2)|p.N212fs*1(2)|p.Y27fs*1(2)|p.T319del(2)|p.V317fs*6(2)|p.T319_K332del(1)|p.G165_*404del(1)|p.L318fs*3(1)|p.L316fs*1(1)|p.T319fs*4(1)|p.W274_F341del(1)|p.V317_K322del(1)|p.T318fs*2(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		ATCTAGTACTTACTTTAACAAA	0.327		31	"D, Mis, N, F, S"		"glioma,  prostate, endometrial"	"harmartoma, glioma,  prostate, endometrial"			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																												ENST00000371953.3		31	yes	Rec	yes	"Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"	10	10q23.3	5728	"D, Mis, N, F, S"	phosphatase and tensin homolog gene			"L, E, M, O"		"harmartoma, glioma,  prostate, endometrial"	"glioma,  prostate, endometrial"		121	Deletion - Frameshift(70)|Whole gene deletion(37)|Deletion - In frame(6)|Insertion - Frameshift(6)|Unknown(2)	p.0?(37)|p.L318fs*2(27)|p.T319fs*1(24)|p.T319fs*6(6)|p.R55fs*1(5)|p.V317fs*3(4)|p.?(2)|p.N212fs*1(2)|p.Y27fs*1(2)|p.T319del(2)|p.V317fs*6(2)|p.T319_K332del(1)|p.G165_*404del(1)|p.L318fs*3(1)|p.L316fs*1(1)|p.T319fs*4(1)|p.W274_F341del(1)|p.V317_K322del(1)|p.T318fs*2(1)	endometrium(38)|central_nervous_system(29)|prostate(17)|skin(8)|breast(7)|ovary(6)|lung(4)|large_intestine(3)|haematopoietic_and_lymphoid_tissue(3)|soft_tissue(2)|urinary_tract(2)|liver(2)	NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771	GRCh37	CD972424|CI075686	PTEN	D|I	rs146650273	c.(952-957)ctctfs		phosphatase and tensin homolog																																				SO:0001589	frameshift_variant	5728	Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	Familial Cancer Database	Incl.: Encephalocraniocutaneous Lipomatosis, ECCL, Proteus-like s.;incl.: Juvenile Polyposis of the Stomach;HMPS1, Colorectal Adenoma Carcinoma syndrome, CRAC, CRAC1;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;subset of PTEN-Hamartoma Tumor Syndrome; incl.: Ruvalcaba-Myhre-Smith s.	activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr10:89720803_89720804delTA	U92436	CCDS31238.1	10q23	2014-09-17	2008-07-31		ENSG00000171862	ENSG00000171862		"Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"	9588	protein-coding gene	gene with protein product	"mutated in multiple advanced cancers 1"	601728		BZS, MHAM		9090379	Standard	NM_000314		Approved	MMAC1, TEP1, PTEN1	uc001kfb.3	P60484	OTTHUMG00000018688	ENST00000371953.3:c.954_955delTA	10.37:g.89720803_89720804delTA	ENSP00000361021:p.Thr319fs	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)				PTEN_ENST00000472832.1_3'UTR	p.LT320fs	NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)	8	2311_2312	+		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	320			C2 tensin-type.		B2R904|F2YHV0|O00633|O02679|Q6ICT7	Frame_Shift_Del	DEL	ENST00000371953.3	37	c.954_955delTA	CCDS31238.1																																																																																				0.327	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1	NM_000314		14	91						14	91	---	---	---	---	-	89720804	TA	-	89720803	7	5	11	1	0	1	0	1	0	0	0	0	12738	1741	61	0	984	0	PTEN	10	89720803	Frame_Shift_Del	DEL	TA	TCGA-4L-AA1F-01A-11D-A41K-08	63274408	89720803	45813944	24	376											
CWF19L1	55280	broad.mit.edu	37	chr10	101993058	101993058	+	Nonsense_Mutation	SNP	T	T	A																															cagggtctcctcgtcttcctTgctgatctgacactgcctcc																										TCGA-4L-AA1F-01A-11D-A41K-08	TCGA-4L-AA1F-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0222802-6dcc-4ec8-a7de-cb26d52f09ee	e3a32f56-a8b5-40ca-a15b-7714da6f0ac7	g.chr10:101993058T>A	ENST00000354105.4	-	14	1629	c.1543A>T	c.(1543-1545)Aag>Tag	p.K515*	CWF19L1_ENST00000478047.1_5'UTR|CWF19L1_ENST00000370379.1_Nonsense_Mutation_p.K230*|RP11-316M21.6_ENST00000444359.1_RNA	NM_018294.4	NP_060764.3	Q69YN2	C19L1_HUMAN	CWF19-like 1, cell cycle control (S. pombe)	515							catalytic activity (GO:0003824)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(4)|pancreas(1)|prostate(1)|stomach(2)	17		Colorectal(252;0.117)		Epithelial(162;3.78e-10)|all cancers(201;3.1e-08)		TCGTCTTCCTTGCTGATCTGA	0.473																																						ENST00000354105.4																			0				cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(4)|pancreas(1)|prostate(1)|stomach(2)	17						c.(1543-1545)Aag>Tag		CWF19-like 1, cell cycle control (S. pombe)							93	93	93					10																	101993058		2203	4300	6503	SO:0001587	stop_gained	55280						catalytic activity	g.chr10:101993058T>A	AK001860	CCDS7489.1	10q24.31	2008-11-24			ENSG00000095485	ENSG00000095485			25613	protein-coding gene	gene with protein product						14702039	Standard	NM_018294		Approved	FLJ10998	uc001kqq.1	Q69YN2	OTTHUMG00000018901	ENST00000354105.4:c.1543A>T	10.37:g.101993058T>A	ENSP00000326411:p.Lys515*					CWF19L1_ENST00000478047.1_5'UTR|CWF19L1_ENST00000370379.1_Nonsense_Mutation_p.K230*|RP11-316M21.6_ENST00000444359.1_RNA	p.K515*	NM_018294.4	NP_060764.3	Q69YN2	C19L1_HUMAN		Epithelial(162;3.78e-10)|all cancers(201;3.1e-08)	14	1629	-		Colorectal(252;0.117)	515					B4DHX1|D3DR66|Q5W0I3|Q96HC3|Q9H865|Q9NV13	Nonsense_Mutation	SNP	ENST00000354105.4	37	c.1543A>T	CCDS7489.1	.	.	.	.	.	.	.	.	.	.	T	24.8	4.573962	0.86542	.	.	ENSG00000095485	ENST00000354105;ENST00000370379	.	.	.	5.38	4.28	0.50868	.	0.105420	0.64402	D	0.000005	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-9.5187	9.2445	0.37518	0.0:0.0:0.3353:0.6647	.	.	.	.	X	515;230	.	ENSP00000326411:K515X	K	-	1	0	CWF19L1	101983048	1.000000	0.71417	1.000000	0.80357	0.610000	0.37248	2.460000	0.45031	2.023000	0.59567	0.459000	0.35465	AAG		0.473	CWF19L1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_018294		10	60	0	0	0	1	0	10	60					A	101993058	T	A	101993058	4	1	11	1	0	0	0	0	0	1	0	0	4071	1821	63	5	77	5	CWF19L1	10	101993058	Nonsense_Mutation	SNP	T	TCGA-4L-AA1F-01A-11D-A41K-08	12272255	101993058	33541689	25	377	1	2									
CWF19L1	55280	broad.mit.edu	37	chr10	101993060	101993060	+	Missense_Mutation	SNP	C	C	T																															gggtctcctcgtcttccttgCtgatctgacactgcctccag																										TCGA-4L-AA1F-01A-11D-A41K-08	TCGA-4L-AA1F-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0222802-6dcc-4ec8-a7de-cb26d52f09ee	e3a32f56-a8b5-40ca-a15b-7714da6f0ac7	g.chr10:101993060C>T	ENST00000354105.4	-	14	1627	c.1541G>A	c.(1540-1542)aGc>aAc	p.S514N	CWF19L1_ENST00000478047.1_5'UTR|CWF19L1_ENST00000370379.1_Missense_Mutation_p.S229N|RP11-316M21.6_ENST00000444359.1_RNA	NM_018294.4	NP_060764.3	Q69YN2	C19L1_HUMAN	CWF19-like 1, cell cycle control (S. pombe)	514							catalytic activity (GO:0003824)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(4)|pancreas(1)|prostate(1)|stomach(2)	17		Colorectal(252;0.117)		Epithelial(162;3.78e-10)|all cancers(201;3.1e-08)		GTCTTCCTTGCTGATCTGACA	0.473																																						ENST00000354105.4																			0				cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(4)|pancreas(1)|prostate(1)|stomach(2)	17						c.(1540-1542)aGc>aAc		CWF19-like 1, cell cycle control (S. pombe)							92	92	92					10																	101993060		2203	4300	6503	SO:0001583	missense	55280						catalytic activity	g.chr10:101993060C>T	AK001860	CCDS7489.1	10q24.31	2008-11-24			ENSG00000095485	ENSG00000095485			25613	protein-coding gene	gene with protein product						14702039	Standard	NM_018294		Approved	FLJ10998	uc001kqq.1	Q69YN2	OTTHUMG00000018901	ENST00000354105.4:c.1541G>A	10.37:g.101993060C>T	ENSP00000326411:p.Ser514Asn					CWF19L1_ENST00000478047.1_5'UTR|CWF19L1_ENST00000370379.1_Missense_Mutation_p.S229N|RP11-316M21.6_ENST00000444359.1_RNA	p.S514N	NM_018294.4	NP_060764.3	Q69YN2	C19L1_HUMAN		Epithelial(162;3.78e-10)|all cancers(201;3.1e-08)	14	1627	-		Colorectal(252;0.117)	514					B4DHX1|D3DR66|Q5W0I3|Q96HC3|Q9H865|Q9NV13	Missense_Mutation	SNP	ENST00000354105.4	37	c.1541G>A	CCDS7489.1	.	.	.	.	.	.	.	.	.	.	C	15.59	2.879123	0.51801	.	.	ENSG00000095485	ENST00000354105;ENST00000370379	T;T	0.33865	1.39;1.39	5.38	5.38	0.77491	Histidine triad motif (1);Cwf19-like protein, C-terminal domain-2 (1);	0.155219	0.64402	D	0.000001	T	0.39436	0.1078	M	0.62723	1.935	0.51233	D	0.999918	B;B;B	0.31153	0.138;0.226;0.31	B;B;B	0.32393	0.105;0.124;0.145	T	0.20174	-1.0283	10	0.36615	T	0.2	-9.9724	16.6367	0.85060	0.0:1.0:0.0:0.0	.	218;377;514	Q69YN2-2;Q69YN2-3;Q69YN2	.;.;C19L1_HUMAN	N	514;229	ENSP00000326411:S514N;ENSP00000359405:S229N	ENSP00000326411:S514N	S	-	2	0	CWF19L1	101983050	0.998000	0.40836	1.000000	0.80357	0.608000	0.37181	0.975000	0.29449	2.499000	0.84300	0.561000	0.74099	AGC		0.473	CWF19L1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_018294		10	61	0	0	0	1	0	10	61					T	101993060	C	T	101993060	3	4	11	1	0	0	0	0	1	0	0	0	4071	797	28	3	79	3	CWF19L1	10	101993060	Missense_Mutation	SNP	C	TCGA-4L-AA1F-01A-11D-A41K-08	2	101993060	33541687	26	378	1	2									
LRRK2	120892	broad.mit.edu	37	chr12	40761496	40761496	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcaatcttccacatgaagtgCaaaatttagaaaaacacatt	18	11	4	8	0	2	2	1	1	1	1	3	2	3	2	1	0	2	1	1	0	7	4	rs201147695		TCGA-4L-AA1F-01A-11D-A41K-08	TCGA-4L-AA1F-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0222802-6dcc-4ec8-a7de-cb26d52f09ee	e3a32f56-a8b5-40ca-a15b-7714da6f0ac7	g.chr12:40761496C>A	ENST00000298910.7	+	51	7571	c.7513C>A	c.(7513-7515)Caa>Aaa	p.Q2505K		NM_198578.3	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	2505					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|autophagy (GO:0006914)|cellular protein localization (GO:0034613)|cellular response to dopamine (GO:1903351)|cellular response to manganese ion (GO:0071287)|cellular response to oxidative stress (GO:0034599)|determination of adult lifespan (GO:0008340)|endocytosis (GO:0006897)|exploration behavior (GO:0035640)|GTP catabolic process (GO:0006184)|intracellular distribution of mitochondria (GO:0048312)|intracellular signal transduction (GO:0035556)|locomotory exploration behavior (GO:0035641)|MAPK cascade (GO:0000165)|negative regulation of GTPase activity (GO:0034260)|negative regulation of hydrogen peroxide-induced cell death (GO:1903206)|negative regulation of late endosome to lysosome transport (GO:1902823)|negative regulation of peroxidase activity (GO:2000469)|negative regulation of protein binding (GO:0032091)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein processing (GO:0010955)|negative regulation of protein processing involved in protein targeting to mitochondrion (GO:1903217)|negative regulation of protein targeting to mitochondrion (GO:1903215)|negative regulation of thioredoxin peroxidase activity by peptidyl-threonine phosphorylation (GO:1903125)|neuromuscular junction development (GO:0007528)|neuron death (GO:0070997)|neuron projection morphogenesis (GO:0048812)|olfactory bulb development (GO:0021772)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of autophagy (GO:0010508)|positive regulation of dopamine receptor signaling pathway (GO:0060161)|positive regulation of GTPase activity (GO:0043547)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of programmed cell death (GO:0043068)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein autoubiquitination (GO:1902499)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination (GO:0031398)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reactive oxygen species metabolic process (GO:0072593)|regulation of branching morphogenesis of a nerve (GO:2000172)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of dopamine receptor signaling pathway (GO:0060159)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of kidney size (GO:0035564)|regulation of locomotion (GO:0040012)|regulation of membrane potential (GO:0042391)|regulation of mitochondrial depolarization (GO:0051900)|regulation of neuroblast proliferation (GO:1902692)|regulation of neuron death (GO:1901214)|regulation of neuron maturation (GO:0014041)|regulation of protein kinase A signaling (GO:0010738)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of synaptic vesicle exocytosis (GO:2000300)|regulation of synaptic vesicle transport (GO:1902803)|response to oxidative stress (GO:0006979)|small GTPase mediated signal transduction (GO:0007264)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytoplasmic side of mitochondrial outer membrane (GO:0032473)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite (GO:0030425)|dendrite cytoplasm (GO:0032839)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|inclusion body (GO:0016234)|lysosome (GO:0005764)|membrane raft (GO:0045121)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)|terminal bouton (GO:0043195)|trans-Golgi network (GO:0005802)	actin binding (GO:0003779)|ATP binding (GO:0005524)|clathrin binding (GO:0030276)|glycoprotein binding (GO:0001948)|GTP binding (GO:0005525)|GTP-dependent protein kinase activity (GO:0034211)|GTPase activator activity (GO:0005096)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|kinase activity (GO:0016301)|MAP kinase kinase activity (GO:0004708)|peroxidase inhibitor activity (GO:0036479)|protein homodimerization activity (GO:0042803)|protein kinase A binding (GO:0051018)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|Rho GTPase binding (GO:0017048)|SNARE binding (GO:0000149)|syntaxin-1 binding (GO:0017075)|tubulin binding (GO:0015631)			NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				ACATGAAGTGCAAAATTTAGA	0.323																																						ENST00000298910.7																			0				NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181						c.(7513-7515)Caa>Aaa		leucine-rich repeat kinase 2							56	59	58					12																	40761496		2203	4297	6500	SO:0001583	missense	120892				activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding	g.chr12:40761496C>A	AK026776	CCDS31774.1	12q12	2011-07-21			ENSG00000188906	ENSG00000188906		"Parkinson disease"	18618	protein-coding gene	gene with protein product		609007	"Parkinson disease (autosomal dominant) 8"	PARK8		15541308	Standard	NM_198578		Approved	ROCO2, DKFZp434H2111, FLJ45829, RIPK7	uc001rmg.4	Q5S007	OTTHUMG00000059742	ENST00000298910.7:c.7513C>A	12.37:g.40761496C>A	ENSP00000298910:p.Gln2505Lys						p.Q2505K	NM_198578.3	NP_940980.3	Q5S007	LRRK2_HUMAN			51	7571	+	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)	2505					A6NJU2|Q6ZS50|Q8NCX9	Missense_Mutation	SNP	ENST00000298910.7	37	c.7513C>A	CCDS31774.1	.	.	.	.	.	.	.	.	.	.	C	7.618	0.676249	0.14841	.	.	ENSG00000188906	ENST00000298910	T	0.69040	-0.37	5.3	3.34	0.38264	WD40 repeat-like-containing domain (1);	0.234251	0.44688	D	0.000422	T	0.52613	0.1745	L	0.38175	1.15	0.34851	D	0.741618	B;B	0.15473	0.013;0.013	B;B	0.17433	0.018;0.018	T	0.54125	-0.8340	10	0.08599	T	0.76	.	13.6586	0.62352	0.1164:0.7564:0.1272:0.0	.	2505;2505	Q17RV3;Q5S007	.;LRRK2_HUMAN	K	2505	ENSP00000298910:Q2505K	ENSP00000298910:Q2505K	Q	+	1	0	LRRK2	39047763	0.999000	0.42202	1.000000	0.80357	0.998000	0.95712	3.035000	0.49759	1.231000	0.43661	0.561000	0.74099	CAA		0.323	LRRK2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277179.1	XM_058513		7	66	1	0	0.00448238	1	0.00477471	7	66					A	40761496	C	A	40761496	3	1	11	1	0	0	0	0	1	0	0	0	9033	711	25	5	7715	5	LRRK2	12	40761496	Missense_Mutation	SNP	C	TCGA-4L-AA1F-01A-11D-A41K-08		40761496	93090399	27	379											
LRRIQ1	84125	broad.mit.edu	37	chr12	85518199	85518199	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagaagagagaagacagcaaGgcaagcagtattcccaccat	17	4	10	10	0	0	4	0	0	0	4	1	5	1	4	2	1	2	4	2	1	5	2			TCGA-4L-AA1F-01A-11D-A41K-08	TCGA-4L-AA1F-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0222802-6dcc-4ec8-a7de-cb26d52f09ee	e3a32f56-a8b5-40ca-a15b-7714da6f0ac7	g.chr12:85518199G>A	ENST00000393217.2	+	17	3970	c.3909G>A	c.(3907-3909)aaG>aaA	p.K1303K		NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	1303										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		AAGACAGCAAGGCAAGCAGTA	0.398																																						ENST00000393217.2																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83						c.(3907-3909)aaG>aaA		leucine-rich repeats and IQ motif containing 1							169	184	179					12																	85518199		2203	4300	6503	SO:0001819	synonymous_variant	84125							g.chr12:85518199G>A	AK022365	CCDS41816.1	12q21	2008-02-05			ENSG00000133640	ENSG00000133640			25708	protein-coding gene	gene with protein product						11347906	Standard	NM_001079910		Approved	FLJ12303, KIAA1801	uc001tac.3	Q96JM4	OTTHUMG00000166185	ENST00000393217.2:c.3909G>A	12.37:g.85518199G>A							p.K1303K	NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN		GBM - Glioblastoma multiforme(134;0.212)	17	3970	+			1303					Q567P4|Q9BS17|Q9HA36	Silent	SNP	ENST00000393217.2	37	c.3909G>A	CCDS41816.1																																																																																				0.398	LRRIQ1-004	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388249.2	NM_032165		12	159	0	0	0	1	0	12	159					A	85518199	G	A	85518199	2	1	11	1	0	0	0	0	0	0	0	1	9029	991	35	3		3	LRRIQ1	12	85518199	Silent	SNP	G	TCGA-4L-AA1F-01A-11D-A41K-08	44756703	85518199	48333696	28	380											
KDM2B	84678	broad.mit.edu	37	chr12	121880305	121880305	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccgcttgggctcctcgcccTcgctctcaggctccgacttg	2	10	11	18	4	1	0	1	0	1	0	6	1	3	0	4	2	0	4	4	2	0	2			TCGA-4L-AA1F-01A-11D-A41K-08	TCGA-4L-AA1F-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0222802-6dcc-4ec8-a7de-cb26d52f09ee	e3a32f56-a8b5-40ca-a15b-7714da6f0ac7	g.chr12:121880305T>G	ENST00000377071.4	-	19	3011	c.2939A>C	c.(2938-2940)gAg>gCg	p.E980A	KDM2B_ENST00000536437.1_Intron|KDM2B_ENST00000542973.1_Missense_Mutation_p.E348A|KDM2B_ENST00000377069.4_Missense_Mutation_p.E911A	NM_032590.4	NP_115979.3	Q8NHM5	KDM2B_HUMAN	lysine (K)-specific demethylase 2B	980					embryonic camera-type eye morphogenesis (GO:0048596)|forebrain development (GO:0030900)|fourth ventricle development (GO:0021592)|hindbrain development (GO:0030902)|histone demethylation (GO:0016577)|histone H2A monoubiquitination (GO:0035518)|initiation of neural tube closure (GO:0021993)|lateral ventricle development (GO:0021670)|midbrain development (GO:0030901)|midbrain-hindbrain boundary morphogenesis (GO:0021555)|negative regulation of neural precursor cell proliferation (GO:2000178)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|spermatogenesis (GO:0007283)|third ventricle development (GO:0021678)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone demethylase activity (GO:0032452)|histone demethylase activity (H3-K36 specific) (GO:0051864)|rRNA binding (GO:0019843)|zinc ion binding (GO:0008270)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	19						CTCCTCGCCCTCGCTCTCAGG	0.682																																						ENST00000377069.4																			0				breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	19						c.(2731-2733)gAg>gCg		lysine (K)-specific demethylase 2B							27	32	30					12																	121880305		2128	4236	6364	SO:0001583	missense	84678				embryonic camera-type eye morphogenesis|fourth ventricle development|histone H2A monoubiquitination|initiation of neural tube closure|lateral ventricle development|midbrain development|midbrain-hindbrain boundary morphogenesis|negative regulation of neural precursor cell proliferation|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|spermatogenesis|third ventricle development|transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|rRNA binding|zinc ion binding	g.chr12:121880305T>G	AJ459424	CCDS41849.1, CCDS41850.1	12q24.31	2014-02-18	2009-04-06	2009-04-06	ENSG00000089094	ENSG00000089094		"F-boxes / Leucine-rich repeats", "Chromatin-modifying enzymes / K-demethylases"	13610	protein-coding gene	gene with protein product	"jumonji C domain-containing histone demethylase 1B"	609078	"F-box and leucine-rich repeat protein 10"	FBXL10		10799292	Standard	NM_032590		Approved	PCCX2, CXXC2, Fbl10, JHDM1B	uc001uat.3	Q8NHM5	OTTHUMG00000169071	ENST00000377071.4:c.2939A>C	12.37:g.121880305T>G	ENSP00000366271:p.Glu980Ala					KDM2B_ENST00000542973.1_Missense_Mutation_p.E348A|KDM2B_ENST00000536437.1_Intron|KDM2B_ENST00000377071.4_Missense_Mutation_p.E980A	p.E911A	NM_001005366.1	NP_001005366.1	Q8NHM5	KDM2B_HUMAN			18	3138	-			980					A8MRS1|Q8NCI2|Q96HC7|Q96SL0|Q96T03|Q9NS96|Q9UF75	Missense_Mutation	SNP	ENST00000377071.4	37	c.2732A>C	CCDS41850.1	.	.	.	.	.	.	.	.	.	.	T	12.12	1.843997	0.32606	.	.	ENSG00000089094	ENST00000397480;ENST00000542973;ENST00000377069;ENST00000377071;ENST00000540043;ENST00000261824	T;T;T	0.24908	2.13;2.37;1.83	5.62	5.62	0.85841	.	1.468830	0.04099	N	0.312569	T	0.31327	0.0793	L	0.48642	1.525	0.80722	D	1	B;B;B;B	0.30406	0.131;0.278;0.278;0.131	B;B;B;B	0.24974	0.039;0.057;0.057;0.039	T	0.04915	-1.0918	10	0.49607	T	0.09	-30.8956	15.8157	0.78597	0.0:0.0:0.0:1.0	.	420;980;911;423	B7ZB05;Q8NHM5;A8MRS1;B4DSN4	.;KDM2B_HUMAN;.;.	A	968;348;911;980;423;983	ENSP00000437821:E348A;ENSP00000366269:E911A;ENSP00000366271:E980A	ENSP00000261824:E983A	E	-	2	0	KDM2B	120364688	1.000000	0.71417	0.727000	0.30756	0.004000	0.04260	3.978000	0.56881	2.142000	0.66516	0.533000	0.62120	GAG		0.682	KDM2B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000402132.2	NM_032590		12	21	0	0	0	1	0	12	21					G	121880305	T	G	121880305	3	3	11	1	0	0	0	0	1	0	0	0	8125	1551	54	5	1143	5	KDM2B	12	121880305	Missense_Mutation	SNP	T	TCGA-4L-AA1F-01A-11D-A41K-08	36362106	121880305	11971590	29	381											
G2E3	55632	broad.mit.edu	37	chr14	31066655	31066655	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ataaatgcgggagtgtttttCtttaggtgtacaatatgcaa	12	15	10	4	1	1	0	0	0	1	0	1	1	1	1	0	2	3	3	0	2	7	7			TCGA-4L-AA1F-01A-11D-A41K-08	TCGA-4L-AA1F-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0222802-6dcc-4ec8-a7de-cb26d52f09ee	e3a32f56-a8b5-40ca-a15b-7714da6f0ac7	g.chr14:31066655C>T	ENST00000206595.6	+	7	712	c.558C>T	c.(556-558)ttC>ttT	p.F186F	G2E3_ENST00000438909.2_Silent_p.F140F|G2E3_ENST00000553504.1_Silent_p.F216F|G2E3_ENST00000544007.1_3'UTR	NM_017769.3	NP_060239.2	Q7L622	G2E3_HUMAN	G2/M-phase specific E3 ubiquitin protein ligase	186					apoptotic process (GO:0006915)|blastocyst development (GO:0001824)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|protein polyubiquitination (GO:0000209)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	23						GAGTGTTTTTCTTTAGGTGTA	0.313																																						ENST00000206595.6																			0				endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	23						c.(556-558)ttC>ttT		G2/M-phase specific E3 ubiquitin protein ligase							148	166	160					14																	31066655		2203	4299	6502	SO:0001819	synonymous_variant	55632				apoptosis|multicellular organismal development|protein modification process	Golgi apparatus|nucleolus	acid-amino acid ligase activity|protein binding|zinc ion binding	g.chr14:31066655C>T	AK000340	CCDS9638.1	14q12	2013-01-28	2010-09-17	2009-02-03	ENSG00000092140	ENSG00000092140		"Zinc fingers, PHD-type"	20338	protein-coding gene	gene with protein product	"PHD finger protein 7B"	611299	"KIAA1333"	KIAA1333		18511420, 17239372	Standard	NM_017769		Approved	FLJ20333, PHF7B	uc001wqk.2	Q7L622	OTTHUMG00000140204	ENST00000206595.6:c.558C>T	14.37:g.31066655C>T						G2E3_ENST00000553504.1_Silent_p.F216F|G2E3_ENST00000438909.2_Silent_p.F140F|G2E3_ENST00000544007.1_3'UTR	p.F186F	NM_017769.3	NP_060239.2	Q7L622	G2E3_HUMAN			7	712	+			186					Q9BVR2|Q9H9E9|Q9NXC0|Q9P2L3	Silent	SNP	ENST00000206595.6	37	c.558C>T	CCDS9638.1																																																																																				0.313	G2E3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276613.2	NM_017769		17	112	0	0	0	1	0	17	112					T	31066655	C	T	31066655	2	4	11	1	0	0	0	0	0	0	0	1	6140	912	32	3		3	G2E3	14	31066655	Silent	SNP	C	TCGA-4L-AA1F-01A-11D-A41K-08		31066655	76282885	30	382											
EVI2A	2123	broad.mit.edu	37	chr17	29645857	29645857	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agttatagggtttgtgttaaTgttttcattttggtttctgc	6	22	10	3	0	2	0	1	0	1	0	2	0	2	0	0	2	1	5	0	2	3	9			TCGA-4L-AA1F-01A-11D-A41K-08	TCGA-4L-AA1F-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0222802-6dcc-4ec8-a7de-cb26d52f09ee	e3a32f56-a8b5-40ca-a15b-7714da6f0ac7	g.chr17:29645857T>G	ENST00000462804.2	-	2	574	c.175A>C	c.(175-177)Att>Ctt	p.I59L	NF1_ENST00000358273.4_Intron|NF1_ENST00000356175.3_Intron|CTD-2370N5.3_ENST00000578584.1_5'Flank|EVI2A_ENST00000461237.1_Missense_Mutation_p.I59L|NF1_ENST00000581113.2_Intron|EVI2A_ENST00000247270.3_Missense_Mutation_p.I82L	NM_014210.3	NP_055025.2	P22794	EVI2A_HUMAN	ecotropic viral integration site 2A	59					signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	transmembrane signaling receptor activity (GO:0004888)	p.0?(8)|p.?(3)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	14		all_cancers(10;6.97e-11)|all_epithelial(10;0.0051)|all_hematologic(16;0.0149)|Breast(31;0.0155)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0257)|all_lung(9;0.0468)|Lung NSC(157;0.094)		UCEC - Uterine corpus endometrioid carcinoma (4;6.64e-05)|all cancers(4;5.94e-13)|Epithelial(4;7.98e-12)|OV - Ovarian serous cystadenocarcinoma(4;9.4e-12)|GBM - Glioblastoma multiforme(4;0.18)		TTTGTGTTAATGTTTTCATTT	0.368																																						ENST00000247270.3																			11	Whole gene deletion(8)|Unknown(3)	p.0?(8)|p.?(3)	soft_tissue(7)|autonomic_ganglia(2)|lung(1)|central_nervous_system(1)	breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	14						c.(244-246)Att>Ctt		ecotropic viral integration site 2A							177	168	171					17																	29645857		2203	4300	6503	SO:0001583	missense	2123					integral to membrane	transmembrane receptor activity	g.chr17:29645857T>G	M55267	CCDS32608.1, CCDS42293.1	17q11.2	2008-07-18			ENSG00000126860	ENSG00000126860			3499	protein-coding gene	gene with protein product		158380		EVI2		2117566	Standard	NM_014210		Approved	EVDA	uc002hgm.3	P22794	OTTHUMG00000159306	ENST00000462804.2:c.175A>C	17.37:g.29645857T>G	ENSP00000420557:p.Ile59Leu					NF1_ENST00000581113.2_Intron|NF1_ENST00000358273.4_Intron|NF1_ENST00000356175.3_Intron|EVI2A_ENST00000462804.2_Missense_Mutation_p.I59L|EVI2A_ENST00000461237.1_Missense_Mutation_p.I59L	p.I82L	NM_001003927.2	NP_001003927.1	P22794	EVI2A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;6.64e-05)|all cancers(4;5.94e-13)|Epithelial(4;7.98e-12)|OV - Ovarian serous cystadenocarcinoma(4;9.4e-12)|GBM - Glioblastoma multiforme(4;0.18)	3	580	-		all_cancers(10;6.97e-11)|all_epithelial(10;0.0051)|all_hematologic(16;0.0149)|Breast(31;0.0155)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0257)|all_lung(9;0.0468)|Lung NSC(157;0.094)	59					B2R5X2|B4DHX8	Missense_Mutation	SNP	ENST00000462804.2	37	c.244A>C	CCDS42293.1	.	.	.	.	.	.	.	.	.	.	T	2.548	-0.304782	0.05495	.	.	ENSG00000126860	ENST00000394755;ENST00000462804;ENST00000461237;ENST00000247270	.	.	.	4.59	0.777	0.18538	.	1.289180	0.05443	N	0.548058	T	0.27594	0.0678	L	0.36672	1.1	0.29333	N	0.866556	B;B	0.20780	0.033;0.048	B;B	0.17098	0.017;0.015	T	0.23976	-1.0173	9	0.09338	T	0.73	.	2.8895	0.05671	0.1259:0.0844:0.2264:0.5633	.	59;82	P22794;P22794-2	EVI2A_HUMAN;.	L	59;55;59;82	.	ENSP00000247270:I82L	I	-	1	0	EVI2A	26669983	0.000000	0.05858	0.441000	0.26858	0.466000	0.32739	-0.701000	0.05075	0.224000	0.20940	-0.250000	0.11733	ATT		0.368	EVI2A-001	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000354491.3	NM_014210		5	108	0	0	0	1	0	5	108					G	29645857	T	G	29645857	3	3	11	1	0	0	0	0	1	0	0	0	5287	1464	51	5	539	5	EVI2A	17	29645857	Missense_Mutation	SNP	T	TCGA-4L-AA1F-01A-11D-A41K-08		29645857	51549353	31	383											
FAM59A	64762	broad.mit.edu	37	chr18	29867774	29867774	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tgcccctcacggatgaagtgGaggtcgtatgggtttctcgg	6	11	15	9	3	2	1	1	1	1	0	4	3	2	3	2	5	1	2	2	5	2	2			TCGA-4L-AA1F-01A-11D-A41K-08	TCGA-4L-AA1F-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0222802-6dcc-4ec8-a7de-cb26d52f09ee	e3a32f56-a8b5-40ca-a15b-7714da6f0ac7	g.chr18:29867774G>A	ENST00000269209.6	-	4	789	c.786C>T	c.(784-786)ctC>ctT	p.L262L	RP11-344B2.2_ENST00000579580.1_RNA|GAREM_ENST00000578619.1_5'Flank|GAREM_ENST00000399218.4_Silent_p.L262L			Q9H706	GAREM_HUMAN	GRB2 associated, regulator of MAPK1	262	CABIT.				cellular response to epidermal growth factor stimulus (GO:0071364)|epidermal growth factor receptor signaling pathway (GO:0007173)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)	plasma membrane (GO:0005886)	proline-rich region binding (GO:0070064)										GGATGAAGTGGAGGTCGTATG	0.542																																						ENST00000399218.4																			0											c.(784-786)ctC>ctT		GRB2 associated, regulator of MAPK1							195	167	177					18																	29867774		2203	4300	6503	SO:0001819	synonymous_variant	64762							g.chr18:29867774G>A	AK025263	CCDS11905.1, CCDS56057.1	18q12.1	2012-11-30	2012-11-30	2012-11-30	ENSG00000141441	ENSG00000141441			26136	protein-coding gene	gene with protein product	"Grb2-associated and regulator of Erk/MAPK"		"chromosome 18 open reading frame 11", "family with sequence similarity 59, member A"	C18orf11, FAM59A		19509291	Standard	NM_001242409		Approved	FLJ21610	uc002kxl.3	Q9H706	OTTHUMG00000132273	ENST00000269209.6:c.786C>T	18.37:g.29867774G>A						RP11-344B2.2_ENST00000579580.1_RNA|GAREM_ENST00000269209.6_Silent_p.L262L	p.L262L	NM_001242409.1|NM_022751.2	NP_001229338.1|NP_073588.1					4	841	-								Q0VAG3|Q0VAG4|Q8ND03|Q9BSF5	Silent	SNP	ENST00000269209.6	37	c.786C>T	CCDS56057.1																																																																																				0.542	GAREM-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255365.1	NM_022751		5	52	0	0	0	1	0	5	52					A	29867774	G	A	29867774	2	1	11	1	0	0	0	0	0	0	0	1	5592	1161	41	3		3	FAM59A	18	29867774	Silent	SNP	G	TCGA-4L-AA1F-01A-11D-A41K-08		29867774	48209474	32	384											
KRI1	65095	broad.mit.edu	37	chr19	10668457	10668457	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcctcaccgggttcaaacaCgggcttctcctgccccacgg	6	7	11	17	3	3	0	2	0	1	0	4	0	3	0	5	4	2	2	5	4	1	2	rs202211862		TCGA-4L-AA1F-01A-11D-A41K-08	TCGA-4L-AA1F-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0222802-6dcc-4ec8-a7de-cb26d52f09ee	e3a32f56-a8b5-40ca-a15b-7714da6f0ac7	g.chr19:10668457C>T	ENST00000312962.6	-	15	1511	c.1492G>A	c.(1492-1494)Gtg>Atg	p.V498M	KRI1_ENST00000361821.5_Missense_Mutation_p.V494M	NM_023008.3	NP_075384.3	Q8N9T8	KRI1_HUMAN	KRI1 homolog (S. cerevisiae)	492						nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	26			Epithelial(33;9.2e-06)|all cancers(31;3.9e-05)			GGTTCAAACACGGGCTTCTCC	0.701													C|||	1	0.000199681	8e-04	0	5008	,	,		15176	0		0	False		,,,				2504	0					ENST00000312962.6																			0				NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	26						c.(1492-1494)Gtg>Atg		KRI1 homolog (S. cerevisiae)							45	44	44					19																	10668457		2202	4298	6500	SO:0001583	missense	65095							g.chr19:10668457C>T		CCDS12242.1	19p13.2	2008-02-05			ENSG00000129347	ENSG00000129347			25769	protein-coding gene	gene with protein product						12878157	Standard	NM_023008		Approved	FLJ12949	uc002moy.1	Q8N9T8	OTTHUMG00000150343	ENST00000312962.6:c.1492G>A	19.37:g.10668457C>T	ENSP00000320917:p.Val498Met					KRI1_ENST00000361821.5_Missense_Mutation_p.V494M	p.V498M	NM_023008.3	NP_075384.3	Q8N9T8	KRI1_HUMAN	Epithelial(33;9.2e-06)|all cancers(31;3.9e-05)		15	1511	-			498					Q2M1R5|Q2M1R7|Q7L5J7|Q96G92|Q9BU50|Q9H6I1|Q9H978	Missense_Mutation	SNP	ENST00000312962.6	37	c.1492G>A	CCDS12242.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	9.139	1.013273	0.19277	.	.	ENSG00000129347	ENST00000312962;ENST00000361821;ENST00000541101;ENST00000539027	T;T;T	0.44083	3.16;2.99;0.93	5.36	1.76	0.24704	.	0.267296	0.35525	N	0.003150	T	0.24812	0.0602	L	0.50919	1.6	0.24664	N	0.993458	P;P	0.45283	0.76;0.855	B;B	0.29267	0.07;0.1	T	0.22312	-1.0220	10	0.44086	T	0.13	-31.9798	4.8486	0.13526	0.1393:0.5078:0.272:0.0809	.	498;494	Q8N9T8;D3YTE0	KRI1_HUMAN;.	M	498;494;498;147	ENSP00000320917:V498M;ENSP00000355366:V494M;ENSP00000445789:V147M	ENSP00000320917:V498M	V	-	1	0	KRI1	10529457	0.868000	0.29978	0.434000	0.26772	0.023000	0.10783	1.971000	0.40530	0.592000	0.29728	0.563000	0.77884	GTG		0.701	KRI1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317705.1	NM_023008		4	36	0	0	0	1	0	4	36					T	10668457	C	T	10668457	3	4	11	1	0	0	0	0	1	0	0	0	8444	536	19	1	657	1	KRI1	19	10668457	Missense_Mutation	SNP	C	TCGA-4L-AA1F-01A-11D-A41K-08		10668457	48460526	33	385											
EMR2	30817	broad.mit.edu	37	chr19	14883284	14883284	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aattttccgcatgacactttCgacagtgttgcacactcgtt	9	14	7	11	3	0	1	0	1	0	0	3	2	1	1	1	0	1	4	1	0	1	5	rs146183015	byFrequency	TCGA-4L-AA1F-01A-11D-A41K-08	TCGA-4L-AA1F-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0222802-6dcc-4ec8-a7de-cb26d52f09ee	e3a32f56-a8b5-40ca-a15b-7714da6f0ac7	g.chr19:14883284C>T	ENST00000315576.3	-	5	676	c.225G>A	c.(223-225)tcG>tcA	p.S75S	EMR2_ENST00000353876.1_Silent_p.S75S|EMR2_ENST00000594294.1_Silent_p.S75S|EMR2_ENST00000392967.2_Silent_p.S75S|EMR2_ENST00000599423.1_5'UTR|EMR2_ENST00000353005.1_Silent_p.S75S|EMR2_ENST00000392964.3_5'Flank|EMR2_ENST00000392965.3_Silent_p.S75S|EMR2_ENST00000595839.1_Silent_p.S75S|EMR2_ENST00000594076.1_Silent_p.S75S|EMR2_ENST00000596991.2_Silent_p.S75S|EMR2_ENST00000601345.1_Silent_p.S75S|EMR2_ENST00000346057.1_Silent_p.S75S	NM_013447.3	NP_038475.2	Q9UHX3	EMR2_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 2	75	EGF-like 2; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				cell adhesion (GO:0007155)|cell migration (GO:0016477)|G-protein coupled receptor signaling pathway (GO:0007186)|granulocyte chemotaxis (GO:0071621)|inflammatory response (GO:0006954)|neuropeptide signaling pathway (GO:0007218)	cell projection (GO:0042995)|integral component of membrane (GO:0016021)|leading edge membrane (GO:0031256)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|chondroitin sulfate binding (GO:0035374)|G-protein coupled receptor activity (GO:0004930)			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	48						ATGACACTTTCGACAGTGTTG	0.537																																						ENST00000315576.3																			0				breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	48						c.(223-225)tcG>tcA		egf-like module containing, mucin-like, hormone receptor-like 2		C	,,,,,,	1,4405	2.1+/-5.4	0,1,2202	151	111	125		225,225,225,225,225,225,225	-2.2	0	19	dbSNP_134	125	5,8595	4.3+/-15.6	0,5,4295	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	EMR2	NM_013447.2,NM_152916.1,NM_152917.1,NM_152918.1,NM_152919.1,NM_152920.1,NM_152921.1	,,,,,,	0,6,6497	TT,TC,CC		0.0581,0.0227,0.0461	,,,,,,	75/824,75/775,75/731,75/682,75/813,75/764,75/720	14883284	6,13000	2203	4300	6503	SO:0001819	synonymous_variant	30817				cell adhesion|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr19:14883284C>T	AF114491	CCDS32935.1, CCDS59361.1	19p13.1	2014-08-08	2003-11-26			ENSG00000127507		"CD molecules", "-", "GPCR / Class B : Orphans"	3337	protein-coding gene	gene with protein product		606100	"egf-like module containing, mucin-like, hormone receptor-like sequence 2"				Standard	NM_013447		Approved	CD312	uc002mzp.2	Q9UHX3		ENST00000315576.3:c.225G>A	19.37:g.14883284C>T						EMR2_ENST00000594294.1_Silent_p.S75S|EMR2_ENST00000346057.1_Silent_p.S75S|EMR2_ENST00000595839.1_Silent_p.S75S|EMR2_ENST00000596991.2_Silent_p.S75S|EMR2_ENST00000599423.1_5'UTR|EMR2_ENST00000594076.1_Silent_p.S75S|EMR2_ENST00000353876.1_Silent_p.S75S|EMR2_ENST00000392965.3_Silent_p.S75S|EMR2_ENST00000392967.2_Silent_p.S75S|EMR2_ENST00000353005.1_Silent_p.S75S|EMR2_ENST00000601345.1_Silent_p.S75S	p.S75S	NM_013447.2	NP_038475.2	Q9UHX3	EMR2_HUMAN			5	676	-			75			EGF-like 2; calcium-binding.		B4DQ96|E7ESD7|E9PBR1|E9PEL6|E9PFQ5|E9PG91|Q8NG96|Q9Y4B1	Silent	SNP	ENST00000315576.3	37	c.225G>A	CCDS32935.1																																																																																				0.537	EMR2-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000466502.2			8	47	0	0	0	1	0	8	47					T	14883284	C	T	14883284	2	4	11	1	0	0	0	0	0	0	0	1	5105	871	31	2		2	EMR2	19	14883284	Silent	SNP	C	TCGA-4L-AA1F-01A-11D-A41K-08	4214827	14883284	44245699	34	386											
PSG8	440533	broad.mit.edu	37	chr19	43268205	43268205	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cattggaatatattgtttctCgtccactgtatgcaggccca	9	14	8	10	1	1	0	0	0	1	0	3	1	2	1	2	2	1	3	2	2	4	6	rs142736244		TCGA-4L-AA1F-01A-11D-A41K-08	TCGA-4L-AA1F-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0222802-6dcc-4ec8-a7de-cb26d52f09ee	e3a32f56-a8b5-40ca-a15b-7714da6f0ac7	g.chr19:43268205C>T	ENST00000306511.4	-	2	390	c.293G>A	c.(292-294)cGa>cAa	p.R98Q	PSG8_ENST00000401467.2_Missense_Mutation_p.R98Q|PSG8_ENST00000404209.4_Missense_Mutation_p.R98Q|PSG8_ENST00000406636.3_Intron	NM_182707.2	NP_874366.1	Q9UQ74	PSG8_HUMAN	pregnancy specific beta-1-glycoprotein 8	98	Ig-like V-type.					extracellular region (GO:0005576)				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(19)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	40		Prostate(69;0.00899)				TATTGTTTCTCGTCCACTGTA	0.423													.|||	1	0.000199681	0	0	5008	,	,		22230	0.001		0	False		,,,				2504	0					ENST00000404209.4																			0				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(19)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	40						c.(292-294)cGa>cAa		pregnancy specific beta-1-glycoprotein 8							345	354	351					19																	43268205		2203	4299	6502	SO:0001583	missense	0					extracellular region		g.chr19:43268205C>T	M74106	CCDS33037.1, CCDS46090.1, CCDS46091.1	19q13.2	2013-01-29			ENSG00000124467	ENSG00000124467		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	9525	protein-coding gene	gene with protein product		176397				1672663, 1572651	Standard	NM_182707		Approved		uc002ouo.2	Q9UQ74	OTTHUMG00000151118	ENST00000306511.4:c.293G>A	19.37:g.43268205C>T	ENSP00000305005:p.Arg98Gln					PSG8_ENST00000406636.3_Intron|PSG8_ENST00000401467.2_Missense_Mutation_p.R98Q|PSG8_ENST00000306511.4_Missense_Mutation_p.R98Q	p.R98Q	NM_001130167.1	NP_001123639.1	Q9UQ74	PSG8_HUMAN			2	389	-		Prostate(69;0.00899)	98			Ig-like V-type.		A5PKV3|B2RPL4|B4DTI6|O60410|Q68CR6	Missense_Mutation	SNP	ENST00000306511.4	37	c.293G>A	CCDS33037.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	c	14.10	2.434111	0.43224	.	.	ENSG00000124467	ENST00000404209;ENST00000401467;ENST00000407488;ENST00000306511	T;T;T	0.72282	-0.64;-0.64;-0.64	1.35	0.254	0.15557	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.84297	0.5441	H	0.94582	3.555	0.09310	N	1	P;D;D;D;D	0.89917	0.864;0.999;0.998;0.999;1.0	P;P;D;D;D	0.71414	0.609;0.899;0.954;0.954;0.973	T	0.70691	-0.4802	9	0.72032	D	0.01	.	3.81	0.08793	0.0:0.7496:0.0:0.2504	.	98;98;98;98;98	B5MCQ0;Q9UQ74;E7ENH0;Q9UQ74-3;A5PKV3	.;PSG8_HUMAN;.;.;.	Q	98	ENSP00000385869:R98Q;ENSP00000386090:R98Q;ENSP00000305005:R98Q	ENSP00000305005:R98Q	R	-	2	0	PSG8	47960045	0.000000	0.05858	0.001000	0.08648	0.200000	0.23975	-0.080000	0.11339	0.143000	0.18926	0.184000	0.17185	CGA		0.423	PSG8-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000464526.1			7	308	0	0	0	1	0	7	308					T	43268205	C	T	43268205	3	4	11	1	0	0	0	0	1	0	0	0	12661	884	31	2	1024	2	PSG8	19	43268205	Missense_Mutation	SNP	C	TCGA-4L-AA1F-01A-11D-A41K-08	28384921	43268205	15860778	35	387											
PTPRH	5794	broad.mit.edu	37	chr19	55713580	55713580	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gccaccatctccagtgtactCaaccccgtaggtggagttct	8	10	9	14	1	3	0	1	0	2	0	4	1	3	1	5	2	2	3	5	2	3	3			TCGA-4L-AA1F-01A-11D-A41K-08	TCGA-4L-AA1F-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0222802-6dcc-4ec8-a7de-cb26d52f09ee	e3a32f56-a8b5-40ca-a15b-7714da6f0ac7	g.chr19:55713580C>T	ENST00000376350.3	-	6	1019	c.997G>A	c.(997-999)Gag>Aag	p.E333K	PTPRH_ENST00000263434.5_Missense_Mutation_p.E155K|PTPRH_ENST00000588559.1_5'UTR	NM_002842.3	NP_002833.3	Q9HD43	PTPRH_HUMAN	protein tyrosine phosphatase, receptor type, H	333	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				apoptotic process (GO:0006915)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(8)|lung(27)|ovary(2)|prostate(5)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	67		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0479)		CCAGTGTACTCAACCCCGTAG	0.567																																						ENST00000376350.3																			0				breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(8)|lung(27)|ovary(2)|prostate(5)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	67						c.(997-999)Gag>Aag		protein tyrosine phosphatase, receptor type, H							138	117	124					19																	55713580		2203	4300	6503	SO:0001583	missense	5794				apoptosis	cytoplasm|integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr19:55713580C>T		CCDS33110.1, CCDS54321.1	19q13.4	2013-02-11				ENSG00000080031		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Fibronectin type III domain containing"	9672	protein-coding gene	gene with protein product		602510				8294459	Standard	XM_006723312		Approved	SAP-1	uc002qjq.3	Q9HD43		ENST00000376350.3:c.997G>A	19.37:g.55713580C>T	ENSP00000365528:p.Glu333Lys					PTPRH_ENST00000263434.5_Missense_Mutation_p.E155K|PTPRH_ENST00000588559.1_5'UTR	p.E333K	NM_002842.3	NP_002833.3	Q9HD43	PTPRH_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0479)	6	1019	-		Renal(1328;0.245)	333			Fibronectin type-III 4.		C9JCH2|Q15426|Q2NKN9|Q2NKP0	Missense_Mutation	SNP	ENST00000376350.3	37	c.997G>A	CCDS33110.1	.	.	.	.	.	.	.	.	.	.	C	8.463	0.855674	0.17106	.	.	ENSG00000080031	ENST00000376350;ENST00000263434	T;T	0.57752	0.38;0.38	4.02	0.142	0.14816	Fibronectin, type III (4);Immunoglobulin-like fold (1);	.	.	.	.	T	0.38692	0.1050	L	0.34521	1.04	0.09310	N	1	P;B;P	0.38395	0.507;0.452;0.629	B;B;B	0.40702	0.338;0.228;0.326	T	0.21793	-1.0235	9	0.29301	T	0.29	.	5.7905	0.18357	0.0:0.2023:0.4243:0.3734	.	155;155;333	C9JCH2;Q9HD43-2;Q9HD43	.;.;PTPRH_HUMAN	K	333;155	ENSP00000365528:E333K;ENSP00000263434:E155K	ENSP00000263434:E155K	E	-	1	0	PTPRH	60405392	0.001000	0.12720	0.363000	0.25875	0.003000	0.03518	0.246000	0.18160	0.396000	0.25283	-0.518000	0.04402	GAG		0.567	PTPRH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452649.1			4	73	0	0	0	1	0	4	73					T	55713580	C	T	55713580	3	4	11	1	0	0	0	0	1	0	0	0	12803	835	29	3	2410	3	PTPRH	19	55713580	Missense_Mutation	SNP	C	TCGA-4L-AA1F-01A-11D-A41K-08	12445375	55713580	3415403	36	388											
ADAMTS1	9510	broad.mit.edu	37	chr21	28212235	28212235	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caaggttacaggatctgtagCgcactcgtttgccttcacag	9	11	10	11	2	2	0	1	0	1	0	3	1	2	1	1	2	3	4	1	2	3	4			TCGA-4L-AA1F-01A-11D-A41K-08	TCGA-4L-AA1F-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0222802-6dcc-4ec8-a7de-cb26d52f09ee	e3a32f56-a8b5-40ca-a15b-7714da6f0ac7	g.chr21:28212235C>T	ENST00000284984.3	-	6	2265	c.1811G>A	c.(1810-1812)cGc>cAc	p.R604H		NM_006988.3	NP_008919.3	Q9UHI8	ATS1_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 1	604	TSP type-1 1. {ECO:0000255|PROSITE- ProRule:PRU00210}.				heart trabecula formation (GO:0060347)|integrin-mediated signaling pathway (GO:0007229)|kidney development (GO:0001822)|negative regulation of cell proliferation (GO:0008285)|ovulation from ovarian follicle (GO:0001542)	basement membrane (GO:0005604)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)	heparin binding (GO:0008201)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(20)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	42		Breast(209;0.000962)		Lung(58;0.215)		GGATCTGTAGCGCACTCGTTT	0.473																																						ENST00000284984.2																			0				central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(20)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	42						c.(1810-1812)cGc>cAc		ADAM metallopeptidase with thrombospondin type 1 motif, 1							178	155	163					21																	28212235		2203	4300	6503	SO:0001583	missense	9510				integrin-mediated signaling pathway|negative regulation of cell proliferation|proteolysis		heparin binding|zinc ion binding	g.chr21:28212235C>T	AF060152	CCDS33524.1	21q21.3	2008-05-14	2005-08-19		ENSG00000154734	ENSG00000154734		"ADAM metallopeptidases with thrombospondin type 1 motif"	217	protein-coding gene	gene with protein product		605174	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 1"			10438512	Standard	NM_006988		Approved	C3-C5, METH1, KIAA1346	uc002ymf.3	Q9UHI8	OTTHUMG00000078688	ENST00000284984.3:c.1811G>A	21.37:g.28212235C>T	ENSP00000284984:p.Arg604His						p.R604H	NM_006988.3	NP_008919.3	Q9UHI8	ATS1_HUMAN		Lung(58;0.215)	6	2265	-		Breast(209;0.000962)	604			TSP type-1 1.		D3DSD5|Q9NSJ8|Q9P2K0|Q9UH83|Q9UP80	Missense_Mutation	SNP	ENST00000284984.3	37	c.1811G>A	CCDS33524.1	.	.	.	.	.	.	.	.	.	.	C	16.80	3.224138	0.58668	.	.	ENSG00000154734	ENST00000284984	T	0.06687	3.27	4.98	4.98	0.66077	.	.	.	.	.	T	0.17365	0.0417	M	0.64997	1.995	0.54753	D	0.999985	D	0.55172	0.97	P	0.56788	0.806	T	0.00148	-1.1989	9	0.66056	D	0.02	.	6.1955	0.20548	0.0:0.7835:0.0:0.2165	.	604	Q9UHI8	ATS1_HUMAN	H	604	ENSP00000284984:R604H	ENSP00000284984:R604H	R	-	2	0	ADAMTS1	27134106	1.000000	0.71417	1.000000	0.80357	0.096000	0.18686	5.670000	0.68088	2.758000	0.94735	0.563000	0.77884	CGC		0.473	ADAMTS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171650.2			5	112	0	0	0	1	0	5	112					T	28212235	C	T	28212235	3	4	11	1	0	0	0	0	1	0	0	0	255	768	27	1	1108	1	ADAMTS1	21	28212235	Missense_Mutation	SNP	C	TCGA-4L-AA1F-01A-11D-A41K-08		28212235	19917660	37	389											
APOBEC3B	9582	broad.mit.edu	37	chr22	39382336	39382336	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctgggaaaactttgtgtacaAtgaaggtcagcaattcatgc	13	11	10	7	0	2	1	2	1	0	0	2	2	2	2	0	2	4	2	0	2	6	3			TCGA-4L-AA1F-01A-11D-A41K-08	TCGA-4L-AA1F-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0222802-6dcc-4ec8-a7de-cb26d52f09ee	e3a32f56-a8b5-40ca-a15b-7714da6f0ac7	g.chr22:39382336A>G	ENST00000333467.3	+	4	533	c.488A>G	c.(487-489)aAt>aGt	p.N163S	APOBEC3B_ENST00000407298.3_Missense_Mutation_p.N163S|APOBEC3B_ENST00000402182.3_Missense_Mutation_p.N163S	NM_001270411.1|NM_004900.4	NP_001257340.1|NP_004891	Q9UH17	ABC3B_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3B	163					defense response to virus (GO:0051607)|innate immune response (GO:0045087)|metabolic process (GO:0008152)|negative regulation of transposition (GO:0010529)	nucleus (GO:0005634)	deoxycytidine deaminase activity (GO:0047844)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			cervix(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	13	Melanoma(58;0.04)					TTTGTGTACAATGAAGGTCAG	0.512																																						ENST00000402182.3																			0				cervix(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	13						c.(487-489)aAt>aGt		apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3B							232	206	215					22																	39382336		2197	4283	6480	SO:0001583	missense	9582				negative regulation of transposition		hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines|RNA binding|zinc ion binding	g.chr22:39382336A>G	AK024854	CCDS13982.1, CCDS58807.1	22q13.1-q13.2	2008-05-15			ENSG00000179750	ENSG00000179750		"Apolipoprotein B mRNA editing enzymes"	17352	protein-coding gene	gene with protein product	"phorbolin 3"	607110				11863358, 10469298	Standard	NM_004900		Approved	PHRBNL, FLJ21201	uc003awo.2	Q9UH17	OTTHUMG00000151085	ENST00000333467.3:c.488A>G	22.37:g.39382336A>G	ENSP00000327459:p.Asn163Ser					APOBEC3B_ENST00000407298.3_Missense_Mutation_p.N163S|APOBEC3B_ENST00000333467.3_Missense_Mutation_p.N163S	p.N163S			Q9UH17	ABC3B_HUMAN			4	543	+	Melanoma(58;0.04)		163					B0QYD2|O95618|Q20WL1|Q5IFJ4|Q7Z2N3|Q7Z6D6|Q9UE74	Missense_Mutation	SNP	ENST00000333467.3	37	c.488A>G	CCDS13982.1	.	.	.	.	.	.	.	.	.	.	.	6.705	0.498824	0.12762	.	.	ENSG00000179750	ENST00000407298;ENST00000402182;ENST00000333467	T;T;T	0.64803	-0.12;-0.12;-0.12	2.31	0.0375	0.14196	APOBEC-like, C-terminal (1);Cytidine deaminase-like (1);	.	.	.	.	T	0.46541	0.1398	L	0.41236	1.265	0.09310	N	1	B;B	0.28233	0.204;0.073	B;B	0.28916	0.096;0.078	T	0.30416	-0.9979	9	0.25751	T	0.34	.	4.5705	0.12207	0.6664:0.0:0.3336:0.0	.	163;163	B0QYD2;Q9UH17	.;ABC3B_HUMAN	S	163	ENSP00000385068:N163S;ENSP00000385060:N163S;ENSP00000327459:N163S	ENSP00000327459:N163S	N	+	2	0	APOBEC3B	37712282	0.000000	0.05858	0.000000	0.03702	0.176000	0.22953	0.649000	0.24843	-0.061000	0.13110	0.172000	0.16884	AAT		0.512	APOBEC3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321233.1	NM_004900		35	131	0	0	0	1	0	35	131					G	39382336	A	G	39382336	3	3	11	1	0	0	0	0	1	0	0	0	790	101	4	4	502	4	APOBEC3B	22	39382336	Missense_Mutation	SNP	A	TCGA-4L-AA1F-01A-11D-A41K-08		39382336	11922230	38	390											
SSX7	280658	broad.mit.edu	37	chrX	52681974	52681974	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	atacacatagctgattttctCcaaggatttcatcttttccc	10	16	4	11	0	3	1	1	1	2	0	5	2	4	2	2	1	2	1	2	1	3	7			TCGA-4L-AA1F-01A-11D-A41K-08	TCGA-4L-AA1F-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0222802-6dcc-4ec8-a7de-cb26d52f09ee	e3a32f56-a8b5-40ca-a15b-7714da6f0ac7	g.chrX:52681974C>A	ENST00000298181.5	-	3	288	c.130G>T	c.(130-132)Gag>Tag	p.E44*		NM_173358.2	NP_775494.1	Q7RTT5	SSX7_HUMAN	synovial sarcoma, X breakpoint 7	44	KRAB-related. {ECO:0000255|PROSITE- ProRule:PRU00120}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|skin(1)	16	Ovarian(276;0.236)					CTGATTTTCTCCAAGGATTTC	0.383																																						ENST00000298181.5																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|skin(1)	16						c.(130-132)Gag>Tag		synovial sarcoma, X breakpoint 7							183	143	157					X																	52681974		2203	4299	6502	SO:0001587	stop_gained	280658				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding	g.chrX:52681974C>A	BK000687	CCDS14343.1	Xp11.23	2011-02-10			ENSG00000187754	ENSG00000187754			19653	protein-coding gene	gene with protein product		300542				12216073	Standard	NM_173358		Approved		uc004dqx.1	Q7RTT5	OTTHUMG00000021572	ENST00000298181.5:c.130G>T	X.37:g.52681974C>A	ENSP00000298181:p.Glu44*						p.E44*	NM_173358.2	NP_775494.1	Q7RTT5	SSX7_HUMAN			3	288	-	Ovarian(276;0.236)		44			KRAB-related.			Nonsense_Mutation	SNP	ENST00000298181.5	37	c.130G>T	CCDS14343.1	.	.	.	.	.	.	.	.	.	.	N	12.20	1.867984	0.32977	.	.	ENSG00000187754	ENST00000298181	.	.	.	0.56	-1.12	0.09808	.	0.588356	0.15379	N	0.265404	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	.	.	.	.	.	.	.	X	44	.	ENSP00000298181:E44X	E	-	1	0	SSX7	52698699	0.007000	0.16637	0.002000	0.10522	0.006000	0.05464	-0.862000	0.04263	-0.597000	0.05813	0.174000	0.16983	GAG		0.383	SSX7-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056671.1	NM_173358		27	56	1	0	8.88839e-20	1	1.08883e-19	27	56					A	52681974	C	A	52681974	4	1	11	1	0	0	0	0	0	1	0	0	15208	864	30	5	456	5	SSX7	23	52681974	Nonsense_Mutation	SNP	C	TCGA-4L-AA1F-01A-11D-A41K-08		52681974	102588586	39	391											
DCAF12L1	139170	broad.mit.edu	37	chrX	125685748	125685748	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	caggtggaagtagccgtccaAggacaccgctcccagttcct	9	7	11	14	2	0	0	0	0	0	0	3	2	3	2	5	3	1	3	5	3	3	2			TCGA-4L-AA1F-01A-11D-A41K-08	TCGA-4L-AA1F-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0222802-6dcc-4ec8-a7de-cb26d52f09ee	e3a32f56-a8b5-40ca-a15b-7714da6f0ac7	g.chrX:125685748A>G	ENST00000371126.1	-	1	1086	c.844T>C	c.(844-846)Ttg>Ctg	p.L282L		NM_178470.4	NP_848565.2	Q5VU92	DC121_HUMAN	DDB1 and CUL4 associated factor 12-like 1	282										breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(39)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68						TAGCCGTCCAAGGACACCGCT	0.627																																						ENST00000371126.1																			0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(39)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68						c.(844-846)Ttg>Ctg		DDB1 and CUL4 associated factor 12-like 1							52	50	51					X																	125685748		2203	4300	6503	SO:0001819	synonymous_variant	139170							g.chrX:125685748A>G	BC035674	CCDS14610.1	Xq25	2013-01-09	2009-07-17	2009-07-17	ENSG00000198889	ENSG00000198889		"WD repeat domain containing"	29395	protein-coding gene	gene with protein product			"WD repeat domain 40B"	WDR40B		12477932	Standard	NM_178470		Approved	KIAA1892L	uc004eul.3	Q5VU92	OTTHUMG00000022353	ENST00000371126.1:c.844T>C	X.37:g.125685748A>G							p.L282L	NM_178470.4	NP_848565.2	Q5VU92	DC121_HUMAN			1	1086	-			282					Q8IYK3	Silent	SNP	ENST00000371126.1	37	c.844T>C	CCDS14610.1																																																																																				0.627	DCAF12L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058186.1	NM_178470		14	17	0	0	0	1	0	14	17					G	125685748	A	G	125685748	2	3	11	1	0	0	0	0	0	0	0	1	4264	69	3	4		4	DCAF12L1	23	125685748	Silent	SNP	A	TCGA-4L-AA1F-01A-11D-A41K-08	73003774	125685748	29584812	40	392											
SPEN	23013	broad.mit.edu	37	chr1	16257094	16257094	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ttgcttgaaagagctaaatcCctctcttcatctcgtgaaga	11	13	7	10	1	3	4	1	2	2	2	6	4	4	4	1	0	2	2	1	0	4	4			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr1:16257094C>T	ENST00000375759.3	+	11	4563	c.4359C>T	c.(4357-4359)tcC>tcT	p.S1453S		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	1453					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription, DNA-templated (GO:0045893)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription corepressor activity (GO:0003714)	p.S1453S(1)		NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		GAGCTAAATCCCTCTCTTCAT	0.363																																						ENST00000375759.3																			1	Substitution - coding silent(1)	p.S1453S(1)	prostate(1)	NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149						c.(4357-4359)tcC>tcT		spen family transcriptional repressor							76	80	79					1																	16257094		2203	4300	6503	SO:0001819	synonymous_variant	23013				interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding	g.chr1:16257094C>T		CCDS164.1	1p36	2013-10-17	2013-10-17		ENSG00000065526	ENSG00000065526		"RNA binding motif (RRM) containing"	17575	protein-coding gene	gene with protein product		613484	"SPEN homolog, transcriptional regulator (Drosophila)", "spen homolog, transcriptional regulator (Drosophila)"			10451362, 11331609	Standard	NM_015001		Approved	KIAA0929, MINT, SHARP, RBM15C	uc001axk.1	Q96T58	OTTHUMG00000009376	ENST00000375759.3:c.4359C>T	1.37:g.16257094C>T							p.S1453S	NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)	11	4563	+		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)	1453					Q9H9A8|Q9NWH5|Q9UQ01|Q9Y556	Silent	SNP	ENST00000375759.3	37	c.4359C>T	CCDS164.1																																																																																				0.363	SPEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025993.1	NM_015001		66	163	0	0	0	0.139131	0	66	163					T	16257094	C	T	16257094	2	4	12	1	0	0	0	0	0	0	0	1	15037	610	22	3		3	SPEN	1	16257094	Silent	SNP	C	TCGA-CH-5737-01A-11D-1576-08		16257094	232993527	1	393											
ARHGEF10L	55160	broad.mit.edu	37	chr1	17958926	17958926	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gagcgtcgggtcttcctgctCaacgacatgcttgtctgtgc	5	12	12	12	3	3	0	1	0	2	0	5	2	4	0	1	1	5	2	1	1	1	2	rs116425261		TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr1:17958926C>T	ENST00000361221.3	+	16	1854	c.1695C>T	c.(1693-1695)ctC>ctT	p.L565L	ARHGEF10L_ENST00000434513.1_Silent_p.L565L|ARHGEF10L_ENST00000375420.3_Silent_p.L323L|ARHGEF10L_ENST00000469726.1_3'UTR|ARHGEF10L_ENST00000375408.3_Silent_p.L343L|ARHGEF10L_ENST00000452522.1_Silent_p.L526L|ARHGEF10L_ENST00000167825.4_Silent_p.L273L|ARHGEF10L_ENST00000375415.1_Silent_p.L526L	NM_018125.3	NP_060595	Q9HCE6	ARGAL_HUMAN	Rho guanine nucleotide exchange factor (GEF) 10-like	565						cytoplasm (GO:0005737)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.L565L(3)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	43		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00598)|COAD - Colon adenocarcinoma(227;1.62e-05)|BRCA - Breast invasive adenocarcinoma(304;1.68e-05)|Kidney(64;0.000269)|KIRC - Kidney renal clear cell carcinoma(64;0.00361)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0718)|Lung(427;0.204)		TCTTCCTGCTCAACGACATGC	0.602																																						ENST00000361221.3																			3	Substitution - coding silent(3)	p.L565L(3)	prostate(3)	NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	43						c.(1693-1695)ctC>ctT		Rho guanine nucleotide exchange factor (GEF) 10-like							136	135	136					1																	17958926		2203	4300	6503	SO:0001819	synonymous_variant	55160				regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity	g.chr1:17958926C>T	AB046846	CCDS182.1, CCDS30617.1	1p36.13	2011-11-16			ENSG00000074964	ENSG00000074964		"Rho guanine nucleotide exchange factors"	25540	protein-coding gene	gene with protein product	"GrinchGEF"	612494				10997877, 16112081	Standard	XM_005245923		Approved	FLJ10521, KIAA1626	uc001ban.3	Q9HCE6	OTTHUMG00000002514	ENST00000361221.3:c.1695C>T	1.37:g.17958926C>T						ARHGEF10L_ENST00000375408.3_Silent_p.L343L|ARHGEF10L_ENST00000375415.1_Silent_p.L526L|ARHGEF10L_ENST00000452522.1_Silent_p.L526L|ARHGEF10L_ENST00000434513.1_Silent_p.L565L|ARHGEF10L_ENST00000469726.1_3'UTR|ARHGEF10L_ENST00000167825.4_Silent_p.L273L|ARHGEF10L_ENST00000375420.3_Silent_p.L323L	p.L565L	NM_018125.3	NP_060595.3	Q9HCE6	ARGAL_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00598)|COAD - Colon adenocarcinoma(227;1.62e-05)|BRCA - Breast invasive adenocarcinoma(304;1.68e-05)|Kidney(64;0.000269)|KIRC - Kidney renal clear cell carcinoma(64;0.00361)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0718)|Lung(427;0.204)	16	1854	+		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)	565					B7ZKS1|Q17RW1|Q3YFJ4|Q5VXI5|Q5VXI6|Q66K51|Q6P0L7|Q8NAV5|Q9NVT3	Silent	SNP	ENST00000361221.3	37	c.1695C>T	CCDS182.1																																																																																				0.602	ARHGEF10L-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000007147.1	NM_018125		7	288	0	0	0	0.038147	0	7	288					T	17958926	C	T	17958926	2	4	12	1	0	0	0	0	0	0	0	1	895	813	29	3		3	ARHGEF10L	1	17958926	Silent	SNP	C	TCGA-CH-5737-01A-11D-1576-08	1701832	17958926	231291695	2	394											
NBPF3	84224	broad.mit.edu	37	chr1	21799965	21799965	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tagccaccacccttgtgagtCcaaccagccttacgggaaca	11	7	8	15	1	0	1	0	1	0	0	1	2	1	2	6	1	5	0	6	1	4	3			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr1:21799965C>A	ENST00000318249.5	+	7	1177	c.827C>A	c.(826-828)tCc>tAc	p.S276Y	NBPF3_ENST00000318220.6_Missense_Mutation_p.S220Y|NBPF3_ENST00000454000.2_Missense_Mutation_p.S206Y|NBPF3_ENST00000342104.5_Missense_Mutation_p.S276Y	NM_032264.3	NP_115640.1	Q9H094	NBPF3_HUMAN	neuroblastoma breakpoint family, member 3	276	NBPF 1. {ECO:0000255|PROSITE- ProRule:PRU00647}.					cytoplasm (GO:0005737)		p.S276Y(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	20		all_lung(284;2.16e-05)|Lung NSC(340;2.19e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|OV - Ovarian serous cystadenocarcinoma(117;7.53e-27)|COAD - Colon adenocarcinoma(152;1.18e-05)|GBM - Glioblastoma multiforme(114;3.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000143)|STAD - Stomach adenocarcinoma(196;0.00306)|KIRC - Kidney renal clear cell carcinoma(1967;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		CCTTGTGAGTCCAACCAGCCT	0.493																																						ENST00000318220.6																			1	Substitution - Missense(1)	p.S276Y(1)	prostate(1)	breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	20						c.(658-660)tCc>tAc		neuroblastoma breakpoint family, member 3							237	217	224					1																	21799965		2203	4300	6503	SO:0001583	missense	84224					cytoplasm		g.chr1:21799965C>A	BC024011	CCDS216.1, CCDS57976.1, CCDS57977.1	1p36.12	2013-01-17			ENSG00000142794	ENSG00000142794		"neuroblastoma breakpoint family"	25076	protein-coding gene	gene with protein product		612992				11230166, 16079250	Standard	NM_032264		Approved	AE2	uc001ber.4	Q9H094	OTTHUMG00000002944	ENST00000318249.5:c.827C>A	1.37:g.21799965C>A	ENSP00000316782:p.Ser276Tyr					NBPF3_ENST00000454000.2_Missense_Mutation_p.S206Y|NBPF3_ENST00000342104.5_Missense_Mutation_p.S276Y|NBPF3_ENST00000318249.5_Missense_Mutation_p.S276Y	p.S220Y			Q9H094	NBPF3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|OV - Ovarian serous cystadenocarcinoma(117;7.53e-27)|COAD - Colon adenocarcinoma(152;1.18e-05)|GBM - Glioblastoma multiforme(114;3.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000143)|STAD - Stomach adenocarcinoma(196;0.00306)|KIRC - Kidney renal clear cell carcinoma(1967;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)	10	1707	+		all_lung(284;2.16e-05)|Lung NSC(340;2.19e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)	276					A8K965|B4DSP2|I3L0I8|Q3BBW1|Q5VTG2|Q5VTG3|Q5VTG4|Q8IX78|Q8ND86|Q8TC96	Missense_Mutation	SNP	ENST00000318249.5	37	c.659C>A	CCDS216.1	.	.	.	.	.	.	.	.	.	.	.	9.778	1.174495	0.21704	.	.	ENSG00000142794	ENST00000454000;ENST00000318220;ENST00000318249;ENST00000417552;ENST00000342104;ENST00000434838	T;T;T;T;T	0.16324	2.35;2.35;2.35;2.35;2.35	0.9	-0.243	0.13035	DUF1220 (2);	.	.	.	.	T	0.37812	0.1017	M	0.84326	2.69	0.09310	N	1	D;D;D	0.89917	0.999;0.999;1.0	D;D;D	0.91635	0.992;0.954;0.999	T	0.12372	-1.0550	9	0.62326	D	0.03	.	4.8618	0.13588	0.0:0.5191:0.4809:0.0	.	206;276;276	B4DSP2;Q9H094-3;Q9H094	.;.;NBPF3_HUMAN	Y	206;220;276;220;276;220	ENSP00000415711:S206Y;ENSP00000316739:S220Y;ENSP00000316782:S276Y;ENSP00000340336:S276Y;ENSP00000391865:S220Y	ENSP00000316739:S220Y	S	+	2	0	NBPF3	21672552	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.581000	0.05820	-0.080000	0.12685	0.184000	0.17185	TCC		0.493	NBPF3-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_032264		7	436	1	0	0.00198382	0.02938	0.00215701	7	436					A	21799965	C	A	21799965	3	1	12	1	0	0	0	0	1	0	0	0	10197	855	30	5	849	5	NBPF3	1	21799965	Missense_Mutation	SNP	C	TCGA-CH-5737-01A-11D-1576-08	3841039	21799965	227450656	3	395											
ZMYM4	9202	broad.mit.edu	37	chr1	35855556	35855556	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttcttctttttagatggccaAatgtgatgcttgtaagcgac	9	16	9	7	1	2	2	0	1	2	1	2	3	2	2	1	1	2	2	1	1	3	7			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr1:35855556A>G	ENST00000314607.6	+	15	2524	c.2444A>G	c.(2443-2445)aAa>aGa	p.K815R	ZMYM4_ENST00000373297.2_Missense_Mutation_p.K726R	NM_005095.2	NP_005086.2	Q5VZL5	ZMYM4_HUMAN	zinc finger, MYM-type 4	815					cytoskeleton organization (GO:0007010)|multicellular organismal development (GO:0007275)|regulation of cell morphogenesis (GO:0022604)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.K815R(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(16)|ovary(2)|prostate(3)|skin(2)	54		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				TAGATGGCCAAATGTGATGCT	0.368																																						ENST00000314607.6																			1	Substitution - Missense(1)	p.K815R(1)	prostate(1)	breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(16)|ovary(2)|prostate(3)|skin(2)	54						c.(2443-2445)aAa>aGa		zinc finger, MYM-type 4							122	116	118					1																	35855556		2203	4300	6503	SO:0001583	missense	9202				multicellular organismal development		DNA binding|zinc ion binding	g.chr1:35855556A>G	AB007885	CCDS389.1	1p34-p32	2013-01-08	2005-12-19	2005-12-19	ENSG00000146463	ENSG00000146463		"Zinc fingers, MYM type"	13055	protein-coding gene	gene with protein product		613568	"zinc finger protein 262"	ZNF262		10449923	Standard	NM_005095		Approved	KIAA0425, ZNF198L3, MYM	uc001byt.3	Q5VZL5	OTTHUMG00000004241	ENST00000314607.6:c.2444A>G	1.37:g.35855556A>G	ENSP00000322915:p.Lys815Arg					ZMYM4_ENST00000373297.2_Missense_Mutation_p.K726R	p.K815R	NM_005095.2	NP_005086.2	Q5VZL5	ZMYM4_HUMAN			15	2524	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)	815					A0JP19|A0JP20|O43308|Q5T5E1|Q5T5E2|Q7L3Q4	Missense_Mutation	SNP	ENST00000314607.6	37	c.2444A>G	CCDS389.1	.	.	.	.	.	.	.	.	.	.	A	14.59	2.580002	0.46006	.	.	ENSG00000146463	ENST00000314607;ENST00000373297	T;T	0.21543	2.1;2.0	5.22	5.22	0.72569	.	0.000000	0.85682	D	0.000000	T	0.13970	0.0338	N	0.21617	0.685	0.42463	D	0.992792	B	0.23490	0.086	B	0.27715	0.082	T	0.03493	-1.1031	10	0.02654	T	1	-13.9773	15.1003	0.72269	1.0:0.0:0.0:0.0	.	815	Q5VZL5	ZMYM4_HUMAN	R	815;726	ENSP00000322915:K815R;ENSP00000362394:K726R	ENSP00000322915:K815R	K	+	2	0	ZMYM4	35628143	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	3.812000	0.55628	1.976000	0.57569	0.383000	0.25322	AAA		0.368	ZMYM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012207.3	NM_005095		24	87	0	0	0	0.083992	0	24	87					G	35855556	A	G	35855556	3	3	12	1	0	0	0	0	1	0	0	0	17699	14	1	4	2502	4	ZMYM4	1	35855556	Missense_Mutation	SNP	A	TCGA-CH-5737-01A-11D-1576-08	14055591	35855556	213395065	4	396											
SLC6A9	6536	broad.mit.edu	37	chr1	44489938	44489938	+	Frame_Shift_Del	DEL	T	T	-																															accagcatccctttggcaccTtttcctaccatggcggcggt																								rs201148088		TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr1:44489938delT	ENST00000372310.3	-	2	177	c.12delA	c.(10-12)aaafs	p.K4fs	SLC6A9_ENST00000492434.2_5'UTR|SLC6A9_ENST00000475075.2_5'UTR|SLC6A9_ENST00000537678.1_5'UTR|SLC6A9_ENST00000372306.3_Frame_Shift_Del_p.K4fs	NM_001024845.2	NP_001020016.1	P48067	SC6A9_HUMAN	solute carrier family 6 (neurotransmitter transporter, glycine), member 9	335					transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	glycine:sodium symporter activity (GO:0015375)|neurotransmitter:sodium symporter activity (GO:0005328)			endometrium(3)|large_intestine(8)|lung(7)|ovary(1)|skin(1)|urinary_tract(2)	22	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)			Glycine(DB00145)	CTTTGGCACCTTTTCCTACCA	0.627																																						ENST00000372310.3																			0				endometrium(3)|large_intestine(8)|lung(7)|ovary(1)|skin(1)|urinary_tract(2)	22						c.(10-12)aafs		solute carrier family 6 (neurotransmitter transporter, glycine), member 9	Glycine(DB00145)						231	218	222					1																	44489938		2203	4300	6503	SO:0001589	frameshift_variant	6536					integral to plasma membrane|membrane fraction	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity	g.chr1:44489938delT	S70609	CCDS30695.1, CCDS41316.1, CCDS41317.1	1p33	2013-05-22			ENSG00000196517	ENSG00000196517		"Solute carriers"	11056	protein-coding gene	gene with protein product		601019				8183239, 7587377	Standard	NM_006934		Approved	GLYT1	uc001cll.4	P48067	OTTHUMG00000008294	ENST00000372310.3:c.12delA	1.37:g.44489938delT	ENSP00000361384:p.Lys4fs					SLC6A9_ENST00000537678.1_5'UTR|SLC6A9_ENST00000492434.2_5'UTR|SLC6A9_ENST00000372306.3_Frame_Shift_Del_p.K4fs|SLC6A9_ENST00000475075.2_5'UTR	p.K4fs	NM_001024845.2	NP_001020016.1	P48067	SC6A9_HUMAN			2	177	-	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)	335					A6NDH1|A6NII2|A6NNZ8|Q5TAB8|Q5TAB9|Q5TAC0	Frame_Shift_Del	DEL	ENST00000372310.3	37	c.12delA	CCDS30695.1																																																																																				0.627	SLC6A9-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022827.1	NM_201649		7	759						7	759	---	---	---	---	-	44489938	T	-	44489938	7	5	12	1	0	1	0	1	0	0	0	0	14691	1606	56	0	2198	0	SLC6A9	1	44489938	Frame_Shift_Del	DEL	T	TCGA-CH-5737-01A-11D-1576-08	8634382	44489938	204760683	5	397											
C1orf173	127254	broad.mit.edu	37	chr1	75072359	75072359	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttacttgtcatttcctccAcagcagttaccacttctttg	7	17	4	13	0	2	0	1	0	1	0	4	0	4	0	3	0	3	2	3	0	2	7			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr1:75072359A>T	ENST00000326665.5	-	10	1633	c.1415T>A	c.(1414-1416)gTg>gAg	p.V472E	RP4-612J11.1_ENST00000416017.1_RNA|C1orf173_ENST00000420661.2_Missense_Mutation_p.V275E	NM_001002912.4	NP_001002912.4	Q5RHP9	ERIC3_HUMAN		472	Glu-rich.							p.V472E(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						CATTTCCTCCACAGCAGTTAC	0.363																																						ENST00000326665.5																			1	Substitution - Missense(1)	p.V472E(1)	prostate(1)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						c.(1414-1416)gTg>gAg		chromosome 1 open reading frame 173							189	188	188					1																	75072359		2203	4300	6503	SO:0001583	missense	127254							g.chr1:75072359A>T																												ENST00000326665.5:c.1415T>A	1.37:g.75072359A>T	ENSP00000322609:p.Val472Glu					RP4-612J11.1_ENST00000416017.1_RNA|C1orf173_ENST00000420661.2_Missense_Mutation_p.V275E	p.V472E	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN			10	1633	-			472			Glu-rich.		Q68DL8|Q6GMR8|Q6ZSF9|Q8ND41	Missense_Mutation	SNP	ENST00000326665.5	37	c.1415T>A	CCDS30755.1	.	.	.	.	.	.	.	.	.	.	A	16.58	3.163040	0.57476	.	.	ENSG00000178965	ENST00000326665;ENST00000420661	T;T	0.18016	2.68;2.24	5.15	5.15	0.70609	.	.	.	.	.	T	0.13457	0.0326	L	0.50333	1.59	0.09310	N	1	D;D	0.71674	0.98;0.998	P;P	0.60541	0.731;0.876	T	0.07770	-1.0755	9	0.02654	T	1	-0.2136	14.261	0.66085	1.0:0.0:0.0:0.0	.	275;472	Q5RHP9-3;Q5RHP9	.;CA173_HUMAN	E	472;275	ENSP00000322609:V472E;ENSP00000398581:V275E	ENSP00000322609:V472E	V	-	2	0	C1orf173	74844947	0.009000	0.17119	0.085000	0.20634	0.122000	0.20287	2.216000	0.42871	2.072000	0.62099	0.533000	0.62120	GTG		0.363	C1orf173-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026516.1			9	495	0	0	0	0.058154	0	9	495					T	75072359	A	T	75072359	3	4	12	1	0	0	0	0	1	0	0	0	2014	159	6	5	3197	5	C1orf173	1	75072359	Missense_Mutation	SNP	A	TCGA-CH-5737-01A-11D-1576-08	30582421	75072359	174178262	6	398											
CDC7	8317	broad.mit.edu	37	chr1	91989955	91989955	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aagaataacagcagaagaagCtttgttgcatccatttttta	15	13	7	6	0	0	3	0	0	0	3	1	3	1	3	1	0	4	4	1	0	6	6			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr1:91989955C>A	ENST00000428239.1	+	12	1947	c.1688C>A	c.(1687-1689)gCt>gAt	p.A563D	CDC7_ENST00000234626.6_Missense_Mutation_p.A563D|CDC7_ENST00000430031.2_Missense_Mutation_p.A535D	NM_001134420.1	NP_001127892.1	O00311	CDC7_HUMAN	cell division cycle 7	563	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell cycle phase transition (GO:0044770)|cell division (GO:0051301)|DNA replication (GO:0006260)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|positive regulation of cell proliferation (GO:0008284)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)	cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|microtubule cytoskeleton (GO:0015630)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.A563D(2)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|stomach(2)	23		all_lung(203;0.0165)|Lung NSC(277;0.0562)		all cancers(265;0.00108)|Epithelial(280;0.0184)|KIRC - Kidney renal clear cell carcinoma(1967;0.124)		GCAGAAGAAGCTTTGTTGCAT	0.328																																						ENST00000428239.1																			2	Substitution - Missense(2)	p.A563D(2)	prostate(2)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|stomach(2)	23						c.(1687-1689)gCt>gAt		cell division cycle 7							97	102	100					1																	91989955		2202	4300	6502	SO:0001583	missense	8317				cell cycle checkpoint|cell division|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|positive regulation of cell proliferation|regulation of S phase	cytoplasm|nucleoplasm	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr1:91989955C>A	AF015592	CCDS734.1	1p22	2013-01-17	2013-01-17	2003-07-23	ENSG00000097046	ENSG00000097046			1745	protein-coding gene	gene with protein product		603311	"CDC7 (cell division cycle 7, S. cerevisiae, homolog)-like 1", "CDC7 cell division cycle 7 (S. cerevisiae)", "cell division cycle 7 (S. cerevisiae)", "cell division cycle 7 homolog (S. cerevisiae)"	CDC7L1		9405610, 9250678	Standard	NM_003503		Approved	Hsk1, huCdc7, HsCdc7	uc001dof.3	O00311	OTTHUMG00000047810	ENST00000428239.1:c.1688C>A	1.37:g.91989955C>A	ENSP00000393139:p.Ala563Asp					CDC7_ENST00000234626.6_Missense_Mutation_p.A563D|CDC7_ENST00000430031.2_Missense_Mutation_p.A535D	p.A563D	NM_001134420.1	NP_001127892.1	O00311	CDC7_HUMAN		all cancers(265;0.00108)|Epithelial(280;0.0184)|KIRC - Kidney renal clear cell carcinoma(1967;0.124)	12	1947	+		all_lung(203;0.0165)|Lung NSC(277;0.0562)	563			Protein kinase.		D3DT31|O00558|Q5T5U5	Missense_Mutation	SNP	ENST00000428239.1	37	c.1688C>A	CCDS734.1	.	.	.	.	.	.	.	.	.	.	C	34	5.332964	0.95758	.	.	ENSG00000097046	ENST00000430031;ENST00000234626;ENST00000428239	T;T;T	0.08546	3.08;3.08;3.08	6.02	6.02	0.97574	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.34337	0.0894	M	0.91406	3.205	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.35748	-0.9776	10	0.87932	D	0	-11.2128	20.5373	0.99239	0.0:1.0:0.0:0.0	.	535;563;563	B7Z5H7;B2R6V2;O00311	.;.;CDC7_HUMAN	D	535;563;563	ENSP00000407477:A535D;ENSP00000234626:A563D;ENSP00000393139:A563D	ENSP00000234626:A563D	A	+	2	0	CDC7	91762543	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.865000	0.69583	2.857000	0.98124	0.650000	0.86243	GCT		0.328	CDC7-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027928.1	NM_003503		14	263	1	0	1.5842e-08	0.105934	1.83928e-08	14	263					A	91989955	C	A	91989955	3	1	12	1	0	0	0	0	1	0	0	0	3084	797	28	5	1730	5	CDC7	1	91989955	Missense_Mutation	SNP	C	TCGA-CH-5737-01A-11D-1576-08	16917596	91989955	157260666	7	399											
BRDT	676	broad.mit.edu	37	chr1	92442729	92442729	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cacctataaaagaaaatatgCcaaagaatgttttgccagat	18	10	6	7	0	0	3	0	0	0	3	0	3	0	3	3	0	2	1	3	0	8	5			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr1:92442729C>G	ENST00000362005.3	+	7	1166	c.748C>G	c.(748-750)Cca>Gca	p.P250A	BRDT_ENST00000399546.2_Missense_Mutation_p.P250A|BRDT_ENST00000402388.1_Missense_Mutation_p.P250A|BRDT_ENST00000394530.3_Missense_Mutation_p.P204A|BRDT_ENST00000484781.1_3'UTR|BRDT_ENST00000370389.2_Missense_Mutation_p.P177A	NM_001242805.1	NP_001229734	Q58F21	BRDT_HUMAN	bromodomain, testis-specific	250					cell differentiation (GO:0030154)|chromatin remodeling (GO:0006338)|histone displacement (GO:0001207)|male meiosis (GO:0007140)|male meiosis I (GO:0007141)|mRNA processing (GO:0006397)|positive regulation of transcription during meiosis (GO:0051039)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	histone binding (GO:0042393)|lysine-acetylated histone binding (GO:0070577)|transcription coactivator activity (GO:0003713)	p.P250A(2)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(24)|ovary(1)|prostate(4)|skin(2)|stomach(2)|urinary_tract(2)	56		all_lung(203;0.00531)|Lung NSC(277;0.0194)		all cancers(265;0.0228)|Epithelial(280;0.133)		AGAAAATATGCCAAAGAATGT	0.348																																						ENST00000370389.2																			2	Substitution - Missense(2)	p.P250A(2)	prostate(2)	breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(24)|ovary(1)|prostate(4)|skin(2)|stomach(2)|urinary_tract(2)	56						c.(529-531)Cca>Gca		bromodomain, testis-specific							65	63	64					1																	92442729		2203	4300	6503	SO:0001583	missense	676				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein serine/threonine kinase activity|transcription coactivator activity	g.chr1:92442729C>G	AF019085	CCDS735.1, CCDS55615.1, CCDS55616.1, CCDS72820.1	1p22.1	2010-12-23			ENSG00000137948	ENSG00000137948			1105	protein-coding gene	gene with protein product	"cancer/testis antigen 9"	602144				9367677	Standard	NM_001726		Approved	BRD6, CT9	uc010osz.2	Q58F21	OTTHUMG00000010113	ENST00000362005.3:c.748C>G	1.37:g.92442729C>G	ENSP00000354568:p.Pro250Ala					BRDT_ENST00000362005.3_Missense_Mutation_p.P250A|BRDT_ENST00000484781.1_3'UTR|BRDT_ENST00000394530.3_Missense_Mutation_p.P204A|BRDT_ENST00000402388.1_Missense_Mutation_p.P250A|BRDT_ENST00000399546.2_Missense_Mutation_p.P250A	p.P177A	NM_001242810.1	NP_001229739.1	Q58F21	BRDT_HUMAN		all cancers(265;0.0228)|Epithelial(280;0.133)	6	1453	+		all_lung(203;0.00531)|Lung NSC(277;0.0194)	250					A6NF68|B7Z811|B7Z890|B7ZAX7|D3DT32|O14789|Q05DQ4|Q6P5T1|Q7Z4A6|Q8IWI6	Missense_Mutation	SNP	ENST00000362005.3	37	c.529C>G	CCDS735.1	.	.	.	.	.	.	.	.	.	.	C	5.414	0.261489	0.10239	.	.	ENSG00000137948	ENST00000362005;ENST00000370389;ENST00000399546;ENST00000539070;ENST00000394530;ENST00000426141;ENST00000402388	T;T;T;T;T;T	0.13420	2.85;2.88;2.85;2.94;2.59;2.85	5.33	-3.99	0.04069	Bromodomain (1);	1.687290	0.03276	N	0.185432	T	0.03739	0.0106	L	0.39898	1.24	0.09310	N	1	B;B;B;B	0.17465	0.022;0.022;0.0;0.022	B;B;B;B	0.14023	0.01;0.01;0.001;0.01	T	0.47045	-0.9147	10	0.48119	T	0.1	0.3159	6.9821	0.24708	0.0852:0.369:0.4195:0.1263	.	204;204;254;250	B7ZAX7;B7Z811;B7Z890;Q58F21	.;.;.;BRDT_HUMAN	A	250;177;250;250;204;250;250	ENSP00000354568:P250A;ENSP00000359416:P177A;ENSP00000387822:P250A;ENSP00000378038:P204A;ENSP00000404969:P250A;ENSP00000384051:P250A	ENSP00000354568:P250A	P	+	1	0	BRDT	92215317	0.000000	0.05858	0.001000	0.08648	0.289000	0.27227	0.035000	0.13797	-0.359000	0.08150	0.655000	0.94253	CCA		0.348	BRDT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027980.2	NM_207189		4	140	0	0	0	0.150653	0	4	140					G	92442729	C	G	92442729	3	3	12	1	0	0	0	0	1	0	0	0	1508	739	26	5	766	5	BRDT	1	92442729	Missense_Mutation	SNP	C	TCGA-CH-5737-01A-11D-1576-08	452774	92442729	156807892	8	400											
ABCD3	5825	broad.mit.edu	37	chr1	94980700	94980700	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	taaatcattttctttgtattAggttggcatcactctcttca	9	19	5	8	0	5	0	3	0	2	0	6	0	5	0	0	2	0	3	0	2	4	8			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr1:94980700A>G	ENST00000370214.4	+	22	1869		c.e22-1		ABCD3_ENST00000484213.1_Splice_Site|ABCD3_ENST00000454898.2_Splice_Site|ABCD3_ENST00000394233.2_Splice_Site|ABCD3_ENST00000536817.1_Splice_Site	NM_002858.3	NP_002849.1	P28288	ABCD3_HUMAN	ATP-binding cassette, sub-family D (ALD), member 3						ATP catabolic process (GO:0006200)|fatty acid beta-oxidation (GO:0006635)|peroxisome organization (GO:0007031)|transmembrane transport (GO:0055085)|very long-chain fatty acid catabolic process (GO:0042760)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|protein homodimerization activity (GO:0042803)			breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(2)|lung(10)|ovary(1)|pancreas(1)|skin(2)	26		all_lung(203;0.000434)|Lung NSC(277;0.0019)		all cancers(265;0.0261)|Epithelial(280;0.165)		TCTTTGTATTAGGTTGGCATC	0.328																																						ENST00000370214.4																			0				breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(2)|lung(10)|ovary(1)|pancreas(1)|skin(2)	26						c.e22-1		ATP-binding cassette, sub-family D (ALD), member 3							150	142	145					1																	94980700		2203	4299	6502	SO:0001630	splice_region_variant	5825				peroxisomal long-chain fatty acid import|peroxisome organization	cytosol|integral to peroxisomal membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr1:94980700A>G	M81182	CCDS749.1, CCDS44175.1	1p21.3	2012-05-16			ENSG00000117528	ENSG00000117528		"ATP binding cassette transporters / subfamily D"	67	protein-coding gene	gene with protein product		170995		PXMP1		1301993, 8449508	Standard	NM_002858		Approved	PMP70, ZWS2	uc001dqn.4	P28288	OTTHUMG00000010717	ENST00000370214.4:c.1846-1A>G	1.37:g.94980700A>G						ABCD3_ENST00000454898.2_Splice_Site|ABCD3_ENST00000394233.2_Splice_Site|ABCD3_ENST00000484213.1_Splice_Site|ABCD3_ENST00000536817.1_Splice_Site		NM_002858.3	NP_002849.1	P28288	ABCD3_HUMAN		all cancers(265;0.0261)|Epithelial(280;0.165)	22	1869	+		all_lung(203;0.000434)|Lung NSC(277;0.0019)						D3DT46|Q15271|Q6NUN5|Q96DA3|Q9H529	Splice_Site	SNP	ENST00000370214.4	37		CCDS749.1	.	.	.	.	.	.	.	.	.	.	A	20.2	3.957247	0.73902	.	.	ENSG00000117528	ENST00000394233;ENST00000454898;ENST00000536817;ENST00000370214	.	.	.	5.98	5.98	0.97165	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.1396	0.81513	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ABCD3	94753288	1.000000	0.71417	0.989000	0.46669	0.826000	0.46750	9.335000	0.96500	2.288000	0.76882	0.528000	0.53228	.		0.328	ABCD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029597.1	NM_002858	Intron	3	245	0	0	0	0.115264	0	3	245					G	94980700	A	G	94980700	5	3	12	1	0	0	0	0	0	0	1	0	62	434	15	4	1961	4	ABCD3	1	94980700	Splice_Site	SNP	A	TCGA-CH-5737-01A-11D-1576-08	2537971	94980700	154269921	9	401											
LRIG2	9860	broad.mit.edu	37	chr1	113655223	113655223	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cctggcagaaagatggtggtActgactttcctgcggctcga	8	10	13	10	2	0	3	0	1	0	2	2	4	1	3	2	4	2	3	2	4	2	2			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr1:113655223A>G	ENST00000361127.5	+	14	2119	c.1921A>G	c.(1921-1923)Act>Gct	p.T641A	LRIG2_ENST00000492207.1_3'UTR	NM_014813.1	NP_055628.1	O94898	LRIG2_HUMAN	leucine-rich repeats and immunoglobulin-like domains 2	641	Ig-like C2-type 2.				innervation (GO:0060384)|regulation of platelet-derived growth factor receptor signaling pathway (GO:0010640)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.T641A(2)		breast(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(10)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1)	31	Lung SC(450;0.246)	all_cancers(81;1.56e-05)|all_epithelial(167;2.62e-05)|all_lung(203;0.000665)|Lung NSC(69;0.000986)		Lung(183;0.0279)|Colorectal(144;0.0885)|COAD - Colon adenocarcinoma(174;0.134)|all cancers(265;0.139)|Epithelial(280;0.143)|LUSC - Lung squamous cell carcinoma(189;0.15)		AGATGGTGGTACTGACTTTCC	0.493																																						ENST00000361127.4																			2	Substitution - Missense(2)	p.T641A(2)	prostate(2)	breast(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(10)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1)	31						c.(1921-1923)Act>Gct		leucine-rich repeats and immunoglobulin-like domains 2							142	129	133					1																	113655223		2203	4300	6503	SO:0001583	missense	9860					cytoplasm|integral to membrane|plasma membrane		g.chr1:113655223A>G	AB018349	CCDS30808.1	1p13.1	2013-01-11			ENSG00000198799	ENSG00000198799		"Immunoglobulin superfamily / I-set domain containing"	20889	protein-coding gene	gene with protein product		608869					Standard	XM_005271369		Approved	KIAA0806	uc001edf.1	O94898	OTTHUMG00000012133	ENST00000361127.5:c.1921A>G	1.37:g.113655223A>G	ENSP00000355396:p.Thr641Ala					LRIG2_ENST00000492207.1_3'UTR	p.T641A	NM_014813.1	NP_055628.1	O94898	LRIG2_HUMAN		Lung(183;0.0279)|Colorectal(144;0.0885)|COAD - Colon adenocarcinoma(174;0.134)|all cancers(265;0.139)|Epithelial(280;0.143)|LUSC - Lung squamous cell carcinoma(189;0.15)	14	2119	+	Lung SC(450;0.246)	all_cancers(81;1.56e-05)|all_epithelial(167;2.62e-05)|all_lung(203;0.000665)|Lung NSC(69;0.000986)	641			Ig-like C2-type 2.		Q9NSN2	Missense_Mutation	SNP	ENST00000361127.5	37	c.1921A>G	CCDS30808.1	.	.	.	.	.	.	.	.	.	.	A	32	5.166345	0.94768	.	.	ENSG00000198799	ENST00000361127	T	0.66280	-0.2	5.45	5.45	0.79879	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.58235	0.2108	N	0.26130	0.795	0.50813	D	0.999899	P	0.51933	0.949	P	0.60886	0.88	T	0.65500	-0.6153	10	0.62326	D	0.03	.	15.5171	0.75833	1.0:0.0:0.0:0.0	.	641	O94898	LRIG2_HUMAN	A	641	ENSP00000355396:T641A	ENSP00000355396:T641A	T	+	1	0	LRIG2	113456746	1.000000	0.71417	0.999000	0.59377	0.993000	0.82548	7.474000	0.81024	2.070000	0.61991	0.482000	0.46254	ACT		0.493	LRIG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033549.2	NM_014813		5	201	0	0	0	0.021553	0	5	201					G	113655223	A	G	113655223	3	3	12	1	0	0	0	0	1	0	0	0	8945	391	14	4	1975	4	LRIG2	1	113655223	Missense_Mutation	SNP	A	TCGA-CH-5737-01A-11D-1576-08	18674523	113655223	135595398	10	402											
OR10Z1	128368	broad.mit.edu	37	chr1	158576525	158576525	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tcctatgtgggctgtgctgcCcagatgttcttttctgcctc	3	16	10	12	0	2	1	0	0	2	1	4	1	3	1	3	1	3	3	3	1	1	4	rs146841755		TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr1:158576525C>T	ENST00000361284.1	+	1	297	c.297C>T	c.(295-297)gcC>gcT	p.A99A		NM_001004478.1	NP_001004478.1	Q8NGY1	O10Z1_HUMAN	olfactory receptor, family 10, subfamily Z, member 1	99						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A99A(1)		endometrium(2)|large_intestine(6)|lung(21)|pancreas(1)|prostate(3)|skin(4)	37	all_hematologic(112;0.0378)					GCTGTGCTGCCCAGATGTTCT	0.542																																						ENST00000361284.1																			1	Substitution - coding silent(1)	p.A99A(1)	prostate(1)	endometrium(2)|large_intestine(6)|lung(21)|pancreas(1)|prostate(3)|skin(4)	37						c.(295-297)gcC>gcT		olfactory receptor, family 10, subfamily Z, member 1							164	171	169					1																	158576525		2203	4299	6502	SO:0001819	synonymous_variant	128368				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158576525C>T	AB065635	CCDS30901.1	1q23.1	2012-08-23			ENSG00000198967	ENSG00000198967		"GPCR / Class A : Olfactory receptors"	14996	protein-coding gene	gene with protein product							Standard	NM_001004478		Approved		uc010pio.2	Q8NGY1	OTTHUMG00000019637	ENST00000361284.1:c.297C>T	1.37:g.158576525C>T							p.A99A	NM_001004478.1	NP_001004478.1	Q8NGY1	O10Z1_HUMAN			1	297	+	all_hematologic(112;0.0378)		99					Q5VYL0|Q6IFR7	Silent	SNP	ENST00000361284.1	37	c.297C>T	CCDS30901.1																																																																																				0.542	OR10Z1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051853.1	NM_001004478		107	396	0	0	0	0.139131	0	107	396					T	158576525	C	T	158576525	2	4	12	1	0	0	0	0	0	0	0	1	10923	610	22	3		3	OR10Z1	1	158576525	Silent	SNP	C	TCGA-CH-5737-01A-11D-1576-08	44921302	158576525	90674096	11	403											
SMG7	9887	broad.mit.edu	37	chr1	183513545	183513545	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgaagccagaaaaacacctGtaactcaaaccccaactcaa	18	5	4	14	0	2	2	2	1	0	1	2	2	2	2	4	0	5	1	4	0	7	1			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr1:183513545G>C	ENST00000347615.2	+	15	2019	c.1900G>C	c.(1900-1902)Gta>Cta	p.V634L	SMG7_ENST00000515829.2_Missense_Mutation_p.V588L|SMG7_ENST00000507469.1_Missense_Mutation_p.V588L|SMG7_ENST00000508461.1_Missense_Mutation_p.V592L|SMG7_ENST00000367537.3_Missense_Mutation_p.V617L|SMG7_ENST00000456731.2_Missense_Mutation_p.V546L	NM_173156.2	NP_775179.1	Q92540	SMG7_HUMAN	SMG7 nonsense mediated mRNA decay factor	634					gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of dephosphorylation (GO:0035303)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)	protein phosphatase 2A binding (GO:0051721)	p.V634L(1)		breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(16)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						AAAAACACCTGTAACTCAAAC	0.423																																						ENST00000367537.3																			1	Substitution - Missense(1)	p.V634L(1)	prostate(1)	breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(16)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						c.(1849-1851)Gta>Cta		SMG7 nonsense mediated mRNA decay factor							125	116	119					1																	183513545		2203	4300	6503	SO:0001583	missense	9887				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation	cytoplasm|intermediate filament cytoskeleton|nucleus	protein phosphatase 2A binding	g.chr1:183513545G>C	D87437	CCDS1355.1, CCDS41445.1, CCDS41445.2, CCDS53444.1, CCDS53445.1	1q25	2013-07-02	2013-07-02	2006-02-16	ENSG00000116698	ENSG00000116698			16792	protein-coding gene	gene with protein product	"EST1 telomerase component homolog C (S. cerevisiae)"	610964	"chromosome 1 open reading frame 16", "smg-7 homolog, nonsense mediated mRNA decay factor (C. elegans)"	C1orf16		14636577, 15721257	Standard	NM_173156		Approved	KIAA0250, EST1C, SGA56M, SMG-7	uc001gqf.3	Q92540	OTTHUMG00000035221	ENST00000347615.2:c.1900G>C	1.37:g.183513545G>C	ENSP00000340766:p.Val634Leu					SMG7_ENST00000347615.2_Missense_Mutation_p.V634L|SMG7_ENST00000515829.2_Missense_Mutation_p.V588L|SMG7_ENST00000508461.1_Missense_Mutation_p.V592L|SMG7_ENST00000507469.1_Missense_Mutation_p.V588L|SMG7_ENST00000456731.2_Missense_Mutation_p.V546L	p.V617L			Q92540	SMG7_HUMAN			16	2044	+			634					B4DRB2|E9PCI0|E9PEH2|Q5T1Q0|Q6PIE0|Q7Z7H9|Q8IXC1|Q8IXC2	Missense_Mutation	SNP	ENST00000347615.2	37	c.1849G>C	CCDS1355.1	.	.	.	.	.	.	.	.	.	.	G	15.73	2.920521	0.52653	.	.	ENSG00000116698	ENST00000456731;ENST00000367537;ENST00000508461;ENST00000419169;ENST00000347615;ENST00000507469;ENST00000515829	T;T;T;T;T;T;T	0.55234	0.53;0.53;0.53;0.53;0.53;0.53;0.53	5.91	5.91	0.95273	.	0.321407	0.32578	N	0.005918	T	0.49321	0.1550	L	0.27053	0.805	0.58432	D	0.999999	P;P;P;P;P;D	0.53151	0.905;0.788;0.788;0.865;0.905;0.958	B;B;B;B;B;P	0.48552	0.427;0.335;0.335;0.397;0.427;0.581	T	0.28459	-1.0043	10	0.16420	T	0.52	-3.0236	20.2985	0.98592	0.0:0.0:1.0:0.0	.	592;617;546;588;634;588	E9PCI0;E9PD50;E9PCE5;Q92540-2;Q92540;E9PEH2	.;.;.;.;SMG7_HUMAN;.	L	546;617;592;546;634;588;588	ENSP00000407629:V546L;ENSP00000356507:V617L;ENSP00000426915:V592L;ENSP00000388390:V546L;ENSP00000340766:V634L;ENSP00000425133:V588L;ENSP00000421358:V588L	ENSP00000340766:V634L	V	+	1	0	SMG7	181780168	1.000000	0.71417	1.000000	0.80357	0.932000	0.56968	9.182000	0.94881	2.793000	0.96121	0.655000	0.94253	GTA		0.423	SMG7-002	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000085432.1	NM_014837		4	182	0	0	0	0.150653	0	4	182					C	183513545	G	C	183513545	3	2	12	1	0	0	0	0	1	0	0	0	14798	1377	48	5	1958	5	SMG7	1	183513545	Missense_Mutation	SNP	G	TCGA-CH-5737-01A-11D-1576-08	24937020	183513545	65737076	12	404											
NR5A2	2494	broad.mit.edu	37	chr1	200089985	200089985	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggagccaccctcaacaaccTcatgagtcatgcacaggagt	12	6	9	14	1	3	1	3	1	0	0	3	3	3	3	3	2	4	1	3	2	2	0			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr1:200089985T>C	ENST00000367362.3	+	7	1526	c.1280T>C	c.(1279-1281)cTc>cCc	p.L427P	NR5A2_ENST00000544748.1_Missense_Mutation_p.L355P|NR5A2_ENST00000236914.3_Missense_Mutation_p.L381P	NM_001276464.1|NM_205860.1	NP_001263393.1|NP_995582.1	O00482	NR5A2_HUMAN	nuclear receptor subfamily 5, group A, member 2	427					bile acid metabolic process (GO:0008206)|cholesterol homeostasis (GO:0042632)|embryo development (GO:0009790)|endocrine pancreas development (GO:0031018)|gene expression (GO:0010467)|homeostatic process (GO:0042592)|intracellular receptor signaling pathway (GO:0030522)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of viral genome replication (GO:0045070)|regulation of cell proliferation (GO:0042127)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|phospholipid binding (GO:0005543)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(15)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	31	Prostate(682;0.19)					CTCAACAACCTCATGAGTCAT	0.418																																					Melanoma(179;1138 2773 15678 26136)	ENST00000367362.3																			0				cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(15)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	31						c.(1279-1281)cTc>cCc		nuclear receptor subfamily 5, group A, member 2							177	149	159					1																	200089985		2203	4300	6503	SO:0001583	missense	2494				embryo development|positive regulation of viral genome replication|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	lipid binding|protein binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr1:200089985T>C	U93553	CCDS1400.1, CCDS1401.1, CCDS60383.1	1q32.11	2013-01-16			ENSG00000116833	ENSG00000116833		"Nuclear hormone receptors"	7984	protein-coding gene	gene with protein product	"liver receptor homolog-1"	604453		FTF		9858833, 7680097	Standard	NM_205860		Approved	FTZ-F1beta, hB1F, LRH-1, FTZ-F1, hB1F-2, B1F2	uc001gvb.4	O00482	OTTHUMG00000035635	ENST00000367362.3:c.1280T>C	1.37:g.200089985T>C	ENSP00000356331:p.Leu427Pro					NR5A2_ENST00000544748.1_Missense_Mutation_p.L355P|NR5A2_ENST00000236914.3_Missense_Mutation_p.L381P	p.L427P	NM_001276464.1|NM_205860.1	NP_001263393.1|NP_995582.1	O00482	NR5A2_HUMAN			7	1526	+	Prostate(682;0.19)		427					B4E2P3|O95642|Q147U3	Missense_Mutation	SNP	ENST00000367362.3	37	c.1280T>C	CCDS1401.1	.	.	.	.	.	.	.	.	.	.	T	25.1	4.608217	0.87258	.	.	ENSG00000116833	ENST00000367362;ENST00000236914;ENST00000544748	D;D;D	0.96856	-4.15;-4.15;-4.15	5.72	5.72	0.89469	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	0.000000	0.85682	D	0.000000	D	0.98416	0.9473	M	0.90814	3.15	0.80722	D	1	D;D	0.89917	0.978;1.0	P;D	0.85130	0.703;0.997	D	0.99399	1.0927	9	.	.	.	.	16.3625	0.83273	0.0:0.0:0.0:1.0	.	381;427	F1D8R9;O00482	.;NR5A2_HUMAN	P	427;381;355	ENSP00000356331:L427P;ENSP00000236914:L381P;ENSP00000439116:L355P	.	L	+	2	0	NR5A2	198356608	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.962000	0.87912	2.319000	0.78375	0.524000	0.50904	CTC		0.418	NR5A2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000086497.2			3	209	0	0	0	0.150653	0	3	209					C	200089985	T	C	200089985	3	2	12	1	0	0	0	0	1	0	0	0	10636	1551	54	4	1306	4	NR5A2	1	200089985	Missense_Mutation	SNP	T	TCGA-CH-5737-01A-11D-1576-08	16576440	200089985	49160636	13	405											
IRF6	3664	broad.mit.edu	37	chr1	209963071	209963071	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggccattcttccccaaagcAtaagtagatctcaaacggtg	12	10	8	11	1	2	1	1	0	2	1	4	1	3	1	3	2	2	2	3	2	4	4			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr1:209963071A>C	ENST00000367021.3	-	8	1292	c.1120T>G	c.(1120-1122)Tgc>Ggc	p.C374G	RP3-434O14.8_ENST00000430751.1_RNA|IRF6_ENST00000542854.1_Missense_Mutation_p.C279G	NM_006147.3	NP_006138.1	O14896	IRF6_HUMAN	interferon regulatory factor 6	374			C -> W (in VWS1). {ECO:0000269|PubMed:12219090}.		cell cycle arrest (GO:0007050)|cell development (GO:0048468)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|keratinocyte differentiation (GO:0030216)|keratinocyte proliferation (GO:0043616)|mammary gland epithelial cell differentiation (GO:0060644)|negative regulation of cell proliferation (GO:0008285)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)|regulatory region DNA binding (GO:0000975)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.C374G(1)		cervix(1)|large_intestine(4)|lung(12)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	28				OV - Ovarian serous cystadenocarcinoma(81;0.0351)		TCCCCAAAGCATAAGTAGATC	0.443										HNSCC(57;0.16)																												ENST00000367021.3																			1	Substitution - Missense(1)	p.C374G(1)	prostate(1)	cervix(1)|large_intestine(4)|lung(12)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	28	GRCh37	CM090292	IRF6	M		c.(1120-1122)Tgc>Ggc		interferon regulatory factor 6							157	133	141					1																	209963071		2203	4300	6503	SO:0001583	missense	3664				cell cycle arrest|interferon-gamma-mediated signaling pathway|mammary gland epithelial cell differentiation|negative regulation of cell proliferation|positive regulation of transcription, DNA-dependent|type I interferon-mediated signaling pathway	cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr1:209963071A>C	AL022398	CCDS1492.1, CCDS55681.1	1q32.2-q32.3	2011-02-10			ENSG00000117595	ENSG00000117595			6121	protein-coding gene	gene with protein product		607199	"Van der Woude syndrome"	VWS, LPS		12219090	Standard	NM_006147		Approved	OFC6, VWS1	uc001hhq.2	O14896	OTTHUMG00000036521	ENST00000367021.3:c.1120T>G	1.37:g.209963071A>C	ENSP00000355988:p.Cys374Gly	HNSCC(57;0.16)				IRF6_ENST00000542854.1_Missense_Mutation_p.C279G	p.C374G	NM_006147.3	NP_006138.1	O14896	IRF6_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0351)	8	1292	-			374		C -> W (in VWS).			B4DLE2|D3DT90|F5GWX8|G0ZTL0	Missense_Mutation	SNP	ENST00000367021.3	37	c.1120T>G	CCDS1492.1	.	.	.	.	.	.	.	.	.	.	A	24.1	4.489036	0.84962	.	.	ENSG00000117595	ENST00000367021;ENST00000542854	D;D	0.95205	-3.64;-3.64	6.06	6.06	0.98353	SMAD domain-like (1);SMAD/FHA domain (1);Interferon regulatory factor-3 (1);	0.000000	0.85682	D	0.000000	D	0.94568	0.8250	M	0.64170	1.965	0.80722	D	1	P	0.36125	0.538	B	0.43889	0.435	D	0.93403	0.6762	9	.	.	.	.	16.6154	0.84909	1.0:0.0:0.0:0.0	.	374	O14896	IRF6_HUMAN	G	374;279	ENSP00000355988:C374G;ENSP00000440532:C279G	.	C	-	1	0	IRF6	208029694	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	8.644000	0.91044	2.315000	0.78130	0.533000	0.62120	TGC		0.443	IRF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088827.1	NM_006147		3	156	0	0	0	0.115264	0	3	156					C	209963071	A	C	209963071	3	2	12	1	0	0	0	0	1	0	0	0	7834	217	8	5	291	5	IRF6	1	209963071	Missense_Mutation	SNP	A	TCGA-CH-5737-01A-11D-1576-08	9873086	209963071	39287550	14	406											
LBR	3930	broad.mit.edu	37	chr1	225607439	225607439	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgtatttttatgaggtgcgTcatttctctcaatatgctca	8	18	8	7	1	4	1	3	1	1	0	5	1	4	1	0	1	2	2	0	1	4	6			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr1:225607439T>C	ENST00000338179.2	-	4	553	c.428A>G	c.(427-429)gAc>gGc	p.D143G	LBR_ENST00000487054.1_5'Flank|LBR_ENST00000272163.4_Missense_Mutation_p.D143G	NM_194442.2	NP_919424.1	Q14739	LBR_HUMAN	lamin B receptor	143					cholesterol biosynthetic process (GO:0006695)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|integral component of nuclear inner membrane (GO:0005639)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)	chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|lamin binding (GO:0005521)|oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor (GO:0016628)|poly(A) RNA binding (GO:0044822)	p.D143G(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	22	Breast(184;0.165)			GBM - Glioblastoma multiforme(131;0.117)		ATGAGGTGCGTCATTTCTCTC	0.348																																						ENST00000338179.2																			1	Substitution - Missense(1)	p.D143G(1)	prostate(1)	breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	22						c.(427-429)gAc>gGc		lamin B receptor							140	144	143					1																	225607439		2203	4299	6502	SO:0001583	missense	3930				cholesterol biosynthetic process	integral to nuclear inner membrane	chromo shadow domain binding|delta14-sterol reductase activity|DNA binding|lamin binding|receptor activity	g.chr1:225607439T>C	L25931	CCDS1545.1	1q42.1	2013-01-23			ENSG00000143815	ENSG00000143815		"Tudor domain containing"	6518	protein-coding gene	gene with protein product	"tudor domain containing 18"	600024				8157663, 9878250	Standard	NM_194442		Approved	DHCR14B, TDRD18	uc001hoy.3	Q14739	OTTHUMG00000037520	ENST00000338179.2:c.428A>G	1.37:g.225607439T>C	ENSP00000339883:p.Asp143Gly					LBR_ENST00000272163.4_Missense_Mutation_p.D143G	p.D143G	NM_194442.2	NP_919424.1	Q14739	LBR_HUMAN		GBM - Glioblastoma multiforme(131;0.117)	4	553	-	Breast(184;0.165)		143			Nucleoplasmic (Potential).		B2R5P3|Q14740|Q53GU7|Q59FE6	Missense_Mutation	SNP	ENST00000338179.2	37	c.428A>G	CCDS1545.1	.	.	.	.	.	.	.	.	.	.	T	7.985	0.751990	0.15778	.	.	ENSG00000143815	ENST00000272163;ENST00000338179;ENST00000425080	D;D;T	0.97066	-4.23;-4.23;0.49	5.78	0.451	0.16629	.	0.771571	0.13241	N	0.402844	D	0.91415	0.7291	L	0.27053	0.805	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.06405	0.002;0.001	T	0.81837	-0.0749	10	0.25106	T	0.35	-10.4898	5.1942	0.15227	0.0:0.1625:0.2978:0.5397	.	143;143	C9JXK0;Q14739	.;LBR_HUMAN	G	143	ENSP00000272163:D143G;ENSP00000339883:D143G;ENSP00000388059:D143G	ENSP00000272163:D143G	D	-	2	0	LBR	223674062	0.017000	0.18338	0.001000	0.08648	0.004000	0.04260	0.395000	0.20850	0.104000	0.17725	0.459000	0.35465	GAC		0.348	LBR-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091398.1	NM_002296		4	297	0	0	0	0.014758	0	4	297					C	225607439	T	C	225607439	3	2	12	1	0	0	0	0	1	0	0	0	8652	1667	58	4	1463	4	LBR	1	225607439	Missense_Mutation	SNP	T	TCGA-CH-5737-01A-11D-1576-08	15644368	225607439	23643182	15	407											
REG3G	130120	broad.mit.edu	37	chr2	79255008	79255008	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	actttgcatgggagaaaaatCcctccaccatcttaaaccct	13	10	5	13	0	1	1	0	0	1	1	3	2	3	1	4	1	2	1	4	1	4	2			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr2:79255008C>G	ENST00000272324.5	+	5	593	c.409C>G	c.(409-411)Ccc>Gcc	p.P137A	REG3G_ENST00000409471.1_Missense_Mutation_p.P91A|REG3G_ENST00000393897.2_Missense_Mutation_p.P137A	NM_001008387.2	NP_001008388.1	Q6UW15	REG3G_HUMAN	regenerating islet-derived 3 gamma	137	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				acute-phase response (GO:0006953)|defense response to Gram-positive bacterium (GO:0050830)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|negative regulation of keratinocyte differentiation (GO:0045617)|positive regulation of keratinocyte proliferation (GO:0010838)|positive regulation of wound healing (GO:0090303)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)	carbohydrate binding (GO:0030246)	p.P137A(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(27)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						GGAGAAAAATCCCTCCACCAT	0.517																																						ENST00000272324.5																			1	Substitution - Missense(1)	p.P137A(1)	prostate(1)	NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(27)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						c.(409-411)Ccc>Gcc		regenerating islet-derived 3 gamma							140	137	138					2																	79255008		2203	4300	6503	SO:0001583	missense	130120				acute-phase response	extracellular region	sugar binding	g.chr2:79255008C>G	AY359047	CCDS1962.1, CCDS58714.1	2p12	2005-02-11			ENSG00000143954	ENSG00000143954			29595	protein-coding gene	gene with protein product		609933				12975309	Standard	NM_001008387		Approved	UNQ429, LPPM429, PAP1B	uc002snx.4	Q6UW15	OTTHUMG00000130018	ENST00000272324.5:c.409C>G	2.37:g.79255008C>G	ENSP00000272324:p.Pro137Ala					REG3G_ENST00000409471.1_Missense_Mutation_p.P91A|REG3G_ENST00000393897.2_Missense_Mutation_p.P137A	p.P137A	NM_001008387.2	NP_001008388.1	Q6UW15	REG3G_HUMAN			5	593	+			137			C-type lectin.		A8K980|D6W5J6|Q3SYE4|Q3SYE6|Q6FH18	Missense_Mutation	SNP	ENST00000272324.5	37	c.409C>G	CCDS1962.1	.	.	.	.	.	.	.	.	.	.	C	8.901	0.956294	0.18507	.	.	ENSG00000143954	ENST00000393897;ENST00000272324;ENST00000409471	T;T;T	0.16743	2.32;2.32;2.32	4.64	3.7	0.42460	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	0.268702	0.27039	N	0.021226	T	0.32526	0.0832	L	0.52905	1.665	0.09310	N	0.999999	D;D	0.89917	1.0;0.961	D;P	0.97110	1.0;0.774	T	0.01925	-1.1246	10	0.41790	T	0.15	.	10.2157	0.43166	0.0:0.7984:0.2016:0.0	.	91;137	Q3SYE6;Q6UW15	.;REG3G_HUMAN	A	137;137;91	ENSP00000377475:P137A;ENSP00000272324:P137A;ENSP00000387105:P91A	ENSP00000272324:P137A	P	+	1	0	REG3G	79108516	0.120000	0.22244	0.119000	0.21687	0.005000	0.04900	1.802000	0.38853	2.578000	0.87016	0.655000	0.94253	CCC		0.517	REG3G-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328247.1	NM_198448		70	183	0	0	0	0.139131	0	70	183					G	79255008	C	G	79255008	3	3	12	1	0	0	0	0	1	0	0	0	13213	855	30	5	423	5	REG3G	2	79255008	Missense_Mutation	SNP	C	TCGA-CH-5737-01A-11D-1576-08		79255008	163944365	16	408											
ZC3H6	376940	broad.mit.edu	37	chr2	113089935	113089935	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aattaggccacagtacagtgAtccaaggcaggcaaggcagc	14	5	12	10	0	0	1	0	1	0	0	1	1	1	1	2	4	2	4	2	4	5	2			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr2:113089935A>G	ENST00000409871.1	+	12	3841	c.3440A>G	c.(3439-3441)gAt>gGt	p.D1147G	ZC3H6_ENST00000343936.4_Missense_Mutation_p.D1147G|AC115115.2_ENST00000607612.1_RNA	NM_198581.2	NP_940983.2	P61129	ZC3H6_HUMAN	zinc finger CCCH-type containing 6	1147							metal ion binding (GO:0046872)	p.D1147G(1)		central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(4)|prostate(2)	35						CAGTACAGTGATCCAAGGCAG	0.517																																						ENST00000409871.1																			1	Substitution - Missense(1)	p.D1147G(1)	prostate(1)	central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(4)|prostate(2)	35						c.(3439-3441)gAt>gGt		zinc finger CCCH-type containing 6							38	45	43					2																	113089935		1974	4168	6142	SO:0001583	missense	376940						nucleic acid binding|zinc ion binding	g.chr2:113089935A>G	AK123404	CCDS46393.1	2q13	2012-07-05	2005-06-02	2005-06-02	ENSG00000188177	ENSG00000188177		"Zinc fingers, CCCH-type domain containing"	24762	protein-coding gene	gene with protein product			"zinc finger CCCH-type domain containing 6"	ZC3HDC6			Standard	NM_198581		Approved	FLJ41410, FLJ45877, KIAA2035	uc002thq.1	P61129	OTTHUMG00000153286	ENST00000409871.1:c.3440A>G	2.37:g.113089935A>G	ENSP00000386764:p.Asp1147Gly					ZC3H6_ENST00000343936.4_Missense_Mutation_p.D1147G	p.D1147G	NM_198581.2	NP_940983.2	P61129	ZC3H6_HUMAN			12	3841	+			1147					A9JR71|Q6ZW96	Missense_Mutation	SNP	ENST00000409871.1	37	c.3440A>G	CCDS46393.1	.	.	.	.	.	.	.	.	.	.	A	18.53	3.643819	0.67244	.	.	ENSG00000188177	ENST00000409871;ENST00000343936	T;T	0.16743	2.32;2.32	5.31	5.31	0.75309	.	0.155439	0.39083	N	0.001475	T	0.40015	0.1100	M	0.65498	2.005	0.54753	D	0.99998	D	0.76494	0.999	D	0.69654	0.965	T	0.28332	-1.0047	10	0.87932	D	0	-12.0768	15.2583	0.73601	1.0:0.0:0.0:0.0	.	1147	P61129	ZC3H6_HUMAN	G	1147	ENSP00000386764:D1147G;ENSP00000340298:D1147G	ENSP00000340298:D1147G	D	+	2	0	ZC3H6	112806406	1.000000	0.71417	0.783000	0.31826	0.986000	0.74619	8.664000	0.91139	1.991000	0.58162	0.533000	0.62120	GAT		0.517	ZC3H6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330551.1	NM_198581		6	149	0	0	0	0.021553	0	6	149					G	113089935	A	G	113089935	3	3	12	1	0	0	0	0	1	0	0	0	17568	333	12	4	3486	4	ZC3H6	2	113089935	Missense_Mutation	SNP	A	TCGA-CH-5737-01A-11D-1576-08	33834927	113089935	130109438	17	409											
GYPC	2995	broad.mit.edu	37	chr2	127453705	127453705	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggtgatagcagcagaaaggAgtactttatttgagggacaa	14	10	13	4	0	0	3	0	2	0	1	0	5	0	5	0	3	3	3	0	3	5	5			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr2:127453705A>T	ENST00000259254.4	+	4	705	c.374A>T	c.(373-375)gAg>gTg	p.E125V	GYPC_ENST00000356887.7_Missense_Mutation_p.E104V|GYPC_ENST00000409836.3_Missense_Mutation_p.E106V|GYPC_ENST00000464053.1_3'UTR	NM_002101.4	NP_002092.1	P04921	GLPC_HUMAN	glycophorin C (Gerbich blood group)	125						cortical cytoskeleton (GO:0030863)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)		p.E125V(1)		central_nervous_system(1)|kidney(1)|large_intestine(2)|liver(1)|lung(5)|prostate(2)|urinary_tract(1)	13	Colorectal(110;0.0533)			BRCA - Breast invasive adenocarcinoma(221;0.075)		AGCAGAAAGGAGTACTTTATT	0.547																																					Melanoma(110;806 1600 6704 9981 33404)	ENST00000259254.4																			1	Substitution - Missense(1)	p.E125V(1)	prostate(1)	central_nervous_system(1)|kidney(1)|large_intestine(2)|liver(1)|lung(5)|prostate(2)|urinary_tract(1)	13						c.(373-375)gAg>gTg		glycophorin C (Gerbich blood group)							94	79	84					2																	127453705		2203	4300	6503	SO:0001583	missense	2995					cortical cytoskeleton|integral to plasma membrane	protein binding	g.chr2:127453705A>T		CCDS2136.1, CCDS46402.1, CCDS58724.1	2q14-q21	2014-07-19			ENSG00000136732	ENSG00000136732		"CD molecules", "Blood group antigens"	4704	protein-coding gene	gene with protein product		110750					Standard	NM_016815		Approved	GPC, GYPD, Ge, CD236, CD236R	uc002tnq.4	P04921	OTTHUMG00000131464	ENST00000259254.4:c.374A>T	2.37:g.127453705A>T	ENSP00000259254:p.Glu125Val					GYPC_ENST00000464053.1_3'UTR|GYPC_ENST00000356887.7_Missense_Mutation_p.E104V|GYPC_ENST00000409836.3_Missense_Mutation_p.E106V	p.E125V	NM_002101.4	NP_002092.1	P04921	GLPC_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.075)	4	705	+	Colorectal(110;0.0533)		125					B2R522|Q53SV9|Q92642	Missense_Mutation	SNP	ENST00000259254.4	37	c.374A>T	CCDS2136.1	.	.	.	.	.	.	.	.	.	.	A	23.3	4.394111	0.83011	.	.	ENSG00000136732	ENST00000259254;ENST00000356887;ENST00000409836	T;T;T	0.57595	0.59;0.39;1.01	5.22	5.22	0.72569	.	.	.	.	.	T	0.77658	0.4163	M	0.90977	3.165	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.83239	-0.0059	9	0.87932	D	0	-3.1922	13.9264	0.63966	1.0:0.0:0.0:0.0	.	104;125	P04921-2;P04921	.;GLPC_HUMAN	V	125;104;106	ENSP00000259254:E125V;ENSP00000349354:E104V;ENSP00000386904:E106V	ENSP00000259254:E125V	E	+	2	0	GYPC	127170175	1.000000	0.71417	1.000000	0.80357	0.833000	0.47200	8.692000	0.91284	1.971000	0.57363	0.459000	0.35465	GAG		0.547	GYPC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254297.1	NM_002101		14	76	0	0	0	0.105934	0	14	76					T	127453705	A	T	127453705	3	4	12	1	0	0	0	0	1	0	0	0	6910	304	11	5	388	5	GYPC	2	127453705	Missense_Mutation	SNP	A	TCGA-CH-5737-01A-11D-1576-08	14363770	127453705	115745668	18	410											
HOXD3	3232	broad.mit.edu	37	chr2	177034058	177034058	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tctgcctgctccatccagagCtctgcccctctgagagcccc	5	9	8	19	0	3	2	0	1	3	2	5	3	5	2	7	0	5	2	7	0	0	0			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr2:177034058C>T	ENST00000468418.3	+	3	2306	c.216C>T	c.(214-216)agC>agT	p.S72S	HOXD3_ENST00000249440.3_Silent_p.S72S|HOXD3_ENST00000410016.1_Silent_p.S72S			P31249	HXD3_HUMAN	homeobox D3	72					anterior/posterior pattern specification (GO:0009952)|cartilage development (GO:0051216)|cell-matrix adhesion (GO:0007160)|embryonic skeletal system morphogenesis (GO:0048704)|Notch signaling pathway (GO:0007219)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron differentiation (GO:0045666)|thyroid gland development (GO:0030878)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.S72S(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(11)|prostate(1)|upper_aerodigestive_tract(2)	23			OV - Ovarian serous cystadenocarcinoma(117;0.00569)|Epithelial(96;0.0864)|all cancers(119;0.226)	Colorectal(32;0.247)		CCATCCAGAGCTCTGCCCCTC	0.652																																						ENST00000468418.3																			1	Substitution - coding silent(1)	p.S72S(1)	prostate(1)	breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(11)|prostate(1)|upper_aerodigestive_tract(2)	23						c.(214-216)agC>agT		homeobox D3							55	56	56					2																	177034058		2203	4300	6503	SO:0001819	synonymous_variant	3232				anterior/posterior pattern formation|cartilage development|cell-matrix adhesion|embryonic skeletal system morphogenesis|Notch signaling pathway|positive regulation of gene expression|positive regulation of neuron differentiation|thyroid gland development		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:177034058C>T		CCDS2270.1	2q31.1	2011-06-20	2005-12-22		ENSG00000128652	ENSG00000128652		"Homeoboxes / ANTP class : HOXL subclass"	5137	protein-coding gene	gene with protein product		142980	"homeo box D3"	HOX4A, HOX4, HOX1D		1973146, 1358459	Standard	NM_006898		Approved		uc002ukt.1	P31249	OTTHUMG00000132517	ENST00000468418.3:c.216C>T	2.37:g.177034058C>T						HOXD3_ENST00000410016.1_Silent_p.S72S|HOXD3_ENST00000249440.3_Silent_p.S72S	p.S72S			P31249	HXD3_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00569)|Epithelial(96;0.0864)|all cancers(119;0.226)	Colorectal(32;0.247)	3	2306	+			72					Q99955|Q9BSC5	Silent	SNP	ENST00000468418.3	37	c.216C>T	CCDS2270.1																																																																																				0.652	HOXD3-005	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334246.4			36	101	0	0	0	0.086207	0	36	101					T	177034058	C	T	177034058	2	4	12	1	0	0	0	0	0	0	0	1	7323	796	28	3		3	HOXD3	2	177034058	Silent	SNP	C	TCGA-CH-5737-01A-11D-1576-08	49580353	177034058	66165315	19	411											
TNS1	7145	broad.mit.edu	37	chr2	218750505	218750505	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagcagtcctggctcgatggTgatgcagacgctagtctggc	7	9	15	10	2	1	2	0	1	1	1	3	4	2	2	1	3	2	4	1	3	1	1			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr2:218750505T>C	ENST00000171887.4	-	13	1155	c.703A>G	c.(703-705)Acc>Gcc	p.T235A	TNS1_ENST00000430930.1_Missense_Mutation_p.T235A|TNS1_ENST00000419504.1_Missense_Mutation_p.T235A|TNS1_ENST00000310858.6_Missense_Mutation_p.T266A	NM_022648.4	NP_072174.3	Q9HBL0	TENS1_HUMAN	tensin 1	235	C2 tensin-type. {ECO:0000255|PROSITE- ProRule:PRU00589}.				cell-substrate junction assembly (GO:0007044)|fibroblast migration (GO:0010761)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)	poly(A) RNA binding (GO:0044822)	p.T235A(1)		breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(23)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	79		Renal(207;0.0483)|Lung NSC(271;0.213)		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)		GGCTCGATGGTGATGCAGACG	0.532																																						ENST00000171887.4																			1	Substitution - Missense(1)	p.T235A(1)	prostate(1)	breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(23)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	79						c.(703-705)Acc>Gcc		tensin 1							145	126	132					2																	218750505		2203	4300	6503	SO:0001583	missense	7145					cytoplasm|cytoskeleton|focal adhesion	actin binding	g.chr2:218750505T>C	AB209238	CCDS2407.1	2q35-q36	2014-06-13	2005-05-13	2005-05-13	ENSG00000079308	ENSG00000079308		"Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs", "SH2 domain containing"	11973	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 155"	600076	"tensin", "matrix-remodelling associated 6"	TNS, MXRA6			Standard	NM_022648		Approved	DKFZp586K0617, PPP1R155	uc002vgt.2	Q9HBL0	OTTHUMG00000133056	ENST00000171887.4:c.703A>G	2.37:g.218750505T>C	ENSP00000171887:p.Thr235Ala					TNS1_ENST00000430930.1_Missense_Mutation_p.T235A|TNS1_ENST00000310858.6_Missense_Mutation_p.T266A|TNS1_ENST00000419504.1_Missense_Mutation_p.T235A	p.T235A	NM_022648.4	NP_072174.3	Q9HBL0	TENS1_HUMAN		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)	13	1155	-		Renal(207;0.0483)|Lung NSC(271;0.213)	235			C2 tensin-type.		Q4ZG71|Q6IPI5	Missense_Mutation	SNP	ENST00000171887.4	37	c.703A>G	CCDS2407.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	13.42|13.42	2.233051|2.233051	0.39498|0.39498	.|.	.|.	ENSG00000079308|ENSG00000079308	ENST00000453356|ENST00000171887;ENST00000419504;ENST00000430930;ENST00000446903;ENST00000413554;ENST00000310858	.|D;D;D;D;D;D	.|0.84660	.|-1.88;-1.88;-1.88;-1.88;-1.88;-1.88	4.77|4.77	4.77|4.77	0.60923|0.60923	.|Tensin phosphatase, C2 domain (2);C2 calcium/lipid-binding domain, CaLB (1);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.82706|0.82706	0.5095|0.5095	N|N	0.04090|0.04090	-0.28|-0.28	0.80722|0.80722	D|D	1|1	.|D;B;B;D;D;P	.|0.89917	.|1.0;0.115;0.016;0.999;0.997;0.775	.|D;B;B;D;D;P	.|0.87578	.|0.998;0.246;0.055;0.998;0.992;0.526	D|D	0.85025|0.85025	0.0914|0.0914	5|10	.|0.39692	.|T	.|0.17	.|.	14.118|14.118	0.65167|0.65167	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|235;289;266;235;235;235	.|B2RU35;A1L0S7;Q6IPI5;Q9HBL0;E9PGF5;E9PF55	.|.;.;.;TENS1_HUMAN;.;.	R|A	10|235;235;235;360;303;266	.|ENSP00000171887:T235A;ENSP00000408724:T235A;ENSP00000406016:T235A;ENSP00000405460:T360A;ENSP00000400383:T303A;ENSP00000308321:T266A	.|ENSP00000171887:T235A	H|T	-|-	2|1	0|0	TNS1|TNS1	218458750|218458750	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.926000|0.926000	0.56050|0.56050	3.283000|3.283000	0.51701|0.51701	1.992000|1.992000	0.58205|0.58205	0.379000|0.379000	0.24179|0.24179	CAC|ACC		0.532	TNS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256672.2	NM_022648		6	145	0	0	0	0.02938	0	6	145					C	218750505	T	C	218750505	3	2	12	1	0	0	0	0	1	0	0	0	16340	1696	59	4	4588	4	TNS1	2	218750505	Missense_Mutation	SNP	T	TCGA-CH-5737-01A-11D-1576-08	41716447	218750505	24448868	20	412											
WDR6	11180	broad.mit.edu	37	chr3	49051423	49051423	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctgcttcagcatcatggttaCtccggaccccagcaccccaa	9	8	7	17	1	2	0	2	0	0	0	3	1	3	1	5	2	4	4	5	2	2	2			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr3:49051423C>A	ENST00000608424.1	+	2	2495	c.2456C>A	c.(2455-2457)aCt>aAt	p.T819N	WDR6_ENST00000415265.2_Missense_Mutation_p.T267N|WDR6_ENST00000395474.3_Missense_Mutation_p.T849N|WDR6_ENST00000448293.1_Missense_Mutation_p.T768N			Q9NNW5	WDR6_HUMAN	WD repeat domain 6	819					cell cycle arrest (GO:0007050)|negative regulation of autophagy (GO:0010507)|negative regulation of cell proliferation (GO:0008285)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)	p.T819N(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|liver(1)|lung(9)|ovary(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26				Kidney(197;9.12e-07)|KIRC - Kidney renal clear cell carcinoma(197;1.32e-05)|BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000155)		ATCATGGTTACTCCGGACCCC	0.647											OREG0015565	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000395474.3																			1	Substitution - Missense(1)	p.T819N(1)	prostate(1)	breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|liver(1)|lung(9)|ovary(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26						c.(2545-2547)aCt>aAt		WD repeat domain 6							51	48	49					3																	49051423		2203	4300	6503	SO:0001583	missense	11180				cell cycle arrest|negative regulation of cell proliferation	cytoplasm		g.chr3:49051423C>A	AF099100	CCDS2782.2	3p21.31	2013-01-09			ENSG00000178252	ENSG00000178252		"WD repeat domain containing"	12758	protein-coding gene	gene with protein product		606031					Standard	NM_018031		Approved		uc003cvj.2	Q9NNW5	OTTHUMG00000133546	ENST00000608424.1:c.2456C>A	3.37:g.49051423C>A	ENSP00000477389:p.Thr819Asn		OREG0015565	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	959	WDR6_ENST00000448293.1_Missense_Mutation_p.T768N|WDR6_ENST00000415265.2_Missense_Mutation_p.T267N	p.T849N	NM_018031.3	NP_060501.3	Q9NNW5	WDR6_HUMAN		Kidney(197;9.12e-07)|KIRC - Kidney renal clear cell carcinoma(197;1.32e-05)|BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000155)	2	2826	+			819					B4DHK2|Q3MIT1|Q9UF63	Missense_Mutation	SNP	ENST00000608424.1	37	c.2546C>A		.	.	.	.	.	.	.	.	.	.	C	6.595	0.478196	0.12521	.	.	ENSG00000178252	ENST00000395474;ENST00000415265;ENST00000448293	T;T	0.59906	0.23;0.24	5.39	2.38	0.29361	WD40 repeat-like-containing domain (1);	0.509267	0.23664	N	0.045796	T	0.29491	0.0735	N	0.12182	0.205	0.09310	N	1	B;B;B	0.12630	0.006;0.004;0.004	B;B;B	0.06405	0.002;0.002;0.002	T	0.10042	-1.0647	10	0.11485	T	0.65	-13.5848	4.5365	0.12037	0.23:0.4615:0.2353:0.0732	.	267;819;768	E9PBK6;Q9NNW5;E9PDU5	.;WDR6_HUMAN;.	N	849;267;768	ENSP00000378857:T849N;ENSP00000413432:T768N	ENSP00000378857:T849N	T	+	2	0	WDR6	49026427	0.000000	0.05858	0.971000	0.41717	0.713000	0.41058	0.511000	0.22739	1.371000	0.46172	0.561000	0.74099	ACT		0.647	WDR6-024	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000471652.1			5	107	1	0	0.0215528	0.021553	0.0230682	5	107					A	49051423	C	A	49051423	3	1	12	1	0	0	0	0	1	0	0	0	17307	565	20	5	2552	5	WDR6	3	49051423	Missense_Mutation	SNP	C	TCGA-CH-5737-01A-11D-1576-08		49051423	148971007	21	413											
WHSC1	7468	broad.mit.edu	37	chr4	1976594	1976594	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcacttgaccttacaggaccGtataatagacgctggcccca	11	9	8	13	2	1	2	1	1	0	1	1	3	1	3	4	2	1	2	4	2	4	5			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr4:1976594G>A	ENST00000382895.3	+	21	3808	c.3377G>A	c.(3376-3378)cGt>cAt	p.R1126H	WHSC1_ENST00000382888.3_Missense_Mutation_p.R474H|WHSC1_ENST00000508803.1_Missense_Mutation_p.R1126H|SCARNA22_ENST00000503991.1_RNA|WHSC1_ENST00000382892.2_Missense_Mutation_p.R1126H|WHSC1_ENST00000382891.5_Missense_Mutation_p.R1126H|WHSC1_ENST00000482415.2_3'UTR	NM_133330.2	NP_579877.1	O96028	NSD2_HUMAN	Wolf-Hirschhorn syndrome candidate 1	1126	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				anatomical structure morphogenesis (GO:0009653)|atrial septum primum morphogenesis (GO:0003289)|atrial septum secundum morphogenesis (GO:0003290)|bone development (GO:0060348)|membranous septum morphogenesis (GO:0003149)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	48		all_epithelial(65;1.34e-05)	OV - Ovarian serous cystadenocarcinoma(23;0.00606)	STAD - Stomach adenocarcinoma(129;0.232)		TTACAGGACCGTATAATAGAC	0.428			T	IGH@	MM																																	ENST00000382895.3				Dom	yes		4	4p16.3	7468	T	Wolf-Hirschhorn syndrome candidate 1(MMSET)			L	IGH@		MM		0				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	48						c.(3376-3378)cGt>cAt		Wolf-Hirschhorn syndrome candidate 1							115	114	114					4																	1976594		2203	4300	6503	SO:0001583	missense	7468				anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|cytoplasm|nuclear membrane|nucleolus	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding	g.chr4:1976594G>A	AF083386	CCDS3356.1, CCDS33940.1, CCDS46999.1	4p16.3	2013-05-20			ENSG00000109685	ENSG00000109685		"Zinc fingers, PHD-type"	12766	protein-coding gene	gene with protein product		602952				9618163, 9787135	Standard	NM_133334		Approved	MMSET, NSD2	uc003gdz.4	O96028	OTTHUMG00000121147	ENST00000382895.3:c.3377G>A	4.37:g.1976594G>A	ENSP00000372351:p.Arg1126His					WHSC1_ENST00000508803.1_Missense_Mutation_p.R1126H|WHSC1_ENST00000382892.2_Missense_Mutation_p.R1126H|WHSC1_ENST00000482415.2_3'UTR|WHSC1_ENST00000382888.3_Missense_Mutation_p.R474H|WHSC1_ENST00000382891.5_Missense_Mutation_p.R1126H	p.R1126H	NM_133330.2	NP_579877.1	O96028	NSD2_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.00606)	STAD - Stomach adenocarcinoma(129;0.232)	21	3808	+		all_epithelial(65;1.34e-05)	1126			SET.		A2A2T2|A2A2T3|A2A2T4|A7MCZ1|D3DVQ2|O96031|Q4VBY8|Q672J1|Q6IS00|Q86V01|Q9BZB4|Q9UI92|Q9UPR2	Missense_Mutation	SNP	ENST00000382895.3	37	c.3377G>A	CCDS33940.1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.253460	0.80135	.	.	ENSG00000109685	ENST00000508803;ENST00000382891;ENST00000382892;ENST00000382895;ENST00000382888	D;D;D;D;D	0.89196	-2.48;-2.48;-2.48;-2.48;-2.48	4.96	4.96	0.65561	SET domain (3);	0.000000	0.49916	D	0.000130	D	0.93572	0.7948	M	0.62088	1.915	0.80722	D	1	D;D	0.89917	0.998;1.0	P;D	0.97110	0.907;1.0	D	0.93652	0.6974	10	0.56958	D	0.05	.	18.3824	0.90455	0.0:0.0:1.0:0.0	.	474;1126	A2A2T2;O96028	.;NSD2_HUMAN	H	1126;1126;1126;1126;474	ENSP00000423972:R1126H;ENSP00000372347:R1126H;ENSP00000372348:R1126H;ENSP00000372351:R1126H;ENSP00000372344:R474H	ENSP00000372344:R474H	R	+	2	0	WHSC1	1946392	1.000000	0.71417	0.962000	0.40283	0.322000	0.28314	9.575000	0.98187	2.587000	0.87381	0.467000	0.42956	CGT		0.428	WHSC1-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366269.2	NM_133330		4	220	0	0	0	0.150653	0	4	220					A	1976594	G	A	1976594	3	1	12	1	0	0	0	0	1	0	0	0	17359	1145	40	1	3523	1	WHSC1	4	1976594	Missense_Mutation	SNP	G	TCGA-CH-5737-01A-11D-1576-08		1976594	189177682	22	414											
NAT8L	339983	broad.mit.edu	37	chr4	2065543	2065543	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggtgggcattgtggctgcaCgggcccacgaggaggacaac	8	6	17	10	2	0	0	0	0	0	0	0	3	0	2	1	6	2	3	1	6	1	1			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr4:2065543C>T	ENST00000423729.2	+	3	598	c.598C>T	c.(598-600)Cgg>Tgg	p.R200W	NAT8L_ENST00000331662.3_Missense_Mutation_p.R32W	NM_178557.3	NP_848652.2	Q8N9F0	NAT8L_HUMAN	N-acetyltransferase 8-like (GCN5-related, putative)	200	N-acetyltransferase. {ECO:0000255|PROSITE-ProRule:PRU00532}.				metabolic process (GO:0008152)|positive regulation of dopamine uptake involved in synaptic transmission (GO:0051586)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|mitochondrial membrane (GO:0031966)	aspartate N-acetyltransferase activity (GO:0017188)			haematopoietic_and_lymphoid_tissue(1)|lung(1)	2			OV - Ovarian serous cystadenocarcinoma(23;0.0315)			TGTGGCTGCACGGGCCCACGA	0.662																																						ENST00000423729.2																			0				haematopoietic_and_lymphoid_tissue(1)|lung(1)	2						c.(598-600)Cgg>Tgg		N-acetyltransferase 8-like (GCN5-related, putative)							68	55	59					4																	2065543		2202	4300	6502	SO:0001583	missense	339983					integral to membrane|microsome|mitochondrial membrane|rough endoplasmic reticulum membrane	aspartate N-acetyltransferase activity	g.chr4:2065543C>T	AK094797	CCDS3359.1, CCDS3359.2	4p16.3	2011-11-16	2008-09-24		ENSG00000185818	ENSG00000185818			26742	protein-coding gene	gene with protein product		610647	"N-acetyltransferase 8-like"			11397015	Standard	NM_178557		Approved	FLJ37478, Hcml3	uc003geq.2	Q8N9F0	OTTHUMG00000121151	ENST00000423729.2:c.598C>T	4.37:g.2065543C>T	ENSP00000413064:p.Arg200Trp					NAT8L_ENST00000331662.3_Missense_Mutation_p.R32W	p.R200W	NM_178557.3	NP_848652.2	Q8N9F0	NAT8L_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.0315)		3	598	+			200			N-acetyltransferase.			Missense_Mutation	SNP	ENST00000423729.2	37	c.598C>T	CCDS3359.2	.	.	.	.	.	.	.	.	.	.	C	18.62	3.662507	0.67700	.	.	ENSG00000185818	ENST00000423729;ENST00000331662	T;T	0.24350	1.86;1.86	5.54	4.69	0.59074	GCN5-related N-acetyltransferase (GNAT) domain (2);Acyl-CoA N-acyltransferase (2);	0.300322	0.27891	U	0.017434	T	0.46171	0.1379	L	0.60455	1.87	0.53005	D	0.999969	D	0.89917	1.0	D	0.70935	0.971	T	0.44483	-0.9325	10	0.66056	D	0.02	-9.7079	13.8721	0.63626	0.2775:0.7225:0.0:0.0	.	200	Q8N9F0	NAT8L_HUMAN	W	200;32	ENSP00000413064:R200W;ENSP00000328464:R32W	ENSP00000328464:R32W	R	+	1	2	NAT8L	2035341	0.921000	0.31238	0.919000	0.36401	0.483000	0.33249	1.978000	0.40598	1.322000	0.45245	-0.553000	0.04205	CGG		0.662	NAT8L-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_178557		4	101	0	0	0	0.150653	0	4	101					T	2065543	C	T	2065543	3	4	12	1	0	0	0	0	1	0	0	0	10181	527	19	1	608	1	NAT8L	4	2065543	Missense_Mutation	SNP	C	TCGA-CH-5737-01A-11D-1576-08	88949	2065543	189088733	23	415											
UTP3	57050	broad.mit.edu	37	chr4	71555682	71555682	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctaggagaaagaagattgatCgcaatcccagagtgaaacac	17	6	10	8	1	0	6	0	2	0	4	2	7	1	6	1	1	1	1	1	1	5	2			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr4:71555682C>T	ENST00000254803.2	+	1	1487	c.1288C>T	c.(1288-1290)Cgc>Tgc	p.R430C		NM_020368.2	NP_065101.1	Q9NQZ2	SAS10_HUMAN	UTP3, small subunit (SSU) processome component, homolog (S. cerevisiae)	430					brain development (GO:0007420)|chromatin modification (GO:0016568)	nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.R430C(1)		endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(4)	18			Lung(101;0.235)			GAAGATTGATCGCAATCCCAG	0.408																																						ENST00000254803.2																			1	Substitution - Missense(1)	p.R430C(1)	prostate(1)	endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(4)	18						c.(1288-1290)Cgc>Tgc		UTP3, small subunit (SSU) processome component, homolog (S. cerevisiae)							105	110	108					4																	71555682		2203	4300	6503	SO:0001583	missense	57050				brain development|chromatin modification|gene silencing	nucleolus		g.chr4:71555682C>T	AL136590	CCDS3546.1	4q13.3	2008-02-05			ENSG00000132467	ENSG00000132467			24477	protein-coding gene	gene with protein product	"disrupter of silencing 10"	611614				12477932	Standard	NM_020368		Approved	FLJ23256, DKFZp761F222, SAS10, CRLZ1	uc003hfo.3	Q9NQZ2	OTTHUMG00000129911	ENST00000254803.2:c.1288C>T	4.37:g.71555682C>T	ENSP00000254803:p.Arg430Cys						p.R430C	NM_020368.2	NP_065101.1	Q9NQZ2	SAS10_HUMAN	Lung(101;0.235)		1	1487	+			430					Q6FI82	Missense_Mutation	SNP	ENST00000254803.2	37	c.1288C>T	CCDS3546.1	.	.	.	.	.	.	.	.	.	.	C	18.19	3.569866	0.65765	.	.	ENSG00000132467	ENST00000254803	T	0.59083	0.29	5.46	3.57	0.40892	Something about silencing protein 10 (Sas10), C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.80717	0.4676	H	0.95187	3.635	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.84256	0.0480	10	0.87932	D	0	-3.878	9.9368	0.41556	0.2506:0.6808:0.0:0.0686	.	430	Q9NQZ2	SAS10_HUMAN	C	430	ENSP00000254803:R430C	ENSP00000254803:R430C	R	+	1	0	UTP3	71774546	1.000000	0.71417	0.998000	0.56505	0.955000	0.61496	3.548000	0.53670	1.369000	0.46134	0.655000	0.94253	CGC		0.408	UTP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252163.2	NM_020368		5	215	0	0	0	0.014758	0	5	215					T	71555682	C	T	71555682	3	4	12	1	0	0	0	0	1	0	0	0	17098	884	31	2	1290	2	UTP3	4	71555682	Missense_Mutation	SNP	C	TCGA-CH-5737-01A-11D-1576-08	69490139	71555682	119598594	24	416											
KLHL2	11275	broad.mit.edu	37	chr4	166218818	166218818	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aggatgtgaggcaagagtttAtggcccgactgatggaacat	12	9	14	6	1	0	3	0	2	0	1	0	6	0	5	1	4	1	2	1	4	3	2			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr4:166218818A>C	ENST00000226725.6	+	7	971	c.712A>C	c.(712-714)Atg>Ctg	p.M238L	KLHL2_ENST00000421009.2_Missense_Mutation_p.M141L|KLHL2_ENST00000514860.1_Missense_Mutation_p.M242L|KLHL2_ENST00000509028.1_3'UTR|KLHL2_ENST00000506761.1_Missense_Mutation_p.M72L|KLHL2_ENST00000538127.1_Missense_Mutation_p.M150L	NM_007246.3	NP_009177.3	O95198	KLHL2_HUMAN	kelch-like family member 2	238					protein ubiquitination (GO:0016567)	actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)	actin binding (GO:0003779)	p.M238L(2)		endometrium(3)|large_intestine(5)|lung(4)|prostate(1)|urinary_tract(1)	14	all_hematologic(180;0.221)			GBM - Glioblastoma multiforme(119;2.94e-27)|COAD - Colon adenocarcinoma(41;1.4e-05)|Kidney(143;4.95e-05)|KIRC - Kidney renal clear cell carcinoma(143;0.000927)		GCAAGAGTTTATGGCCCGACT	0.393																																						ENST00000226725.6																			2	Substitution - Missense(2)	p.M238L(2)	prostate(2)	endometrium(3)|large_intestine(5)|lung(4)|prostate(1)|urinary_tract(1)	14						c.(712-714)Atg>Ctg		kelch-like family member 2							155	127	137					4																	166218818		2203	4300	6503	SO:0001583	missense	11275				intracellular protein transport	actin cytoskeleton|cytoplasm	actin binding|transporter activity	g.chr4:166218818A>C	AF059569	CCDS34094.1, CCDS54815.1, CCDS54816.1	4q21.2	2013-01-30	2013-01-30		ENSG00000109466	ENSG00000109466		"Kelch-like", "BTB/POZ domain containing"	6353	protein-coding gene	gene with protein product	"mayven"	605774	"kelch (Drosophila)-like 2 (Mayven)", "kelch-like 2, Mayven (Drosophila)"			10397770, 16035103	Standard	NM_007246		Approved	MAV	uc011cjm.2	O95198	OTTHUMG00000161294	ENST00000226725.6:c.712A>C	4.37:g.166218818A>C	ENSP00000226725:p.Met238Leu					KLHL2_ENST00000506761.1_Missense_Mutation_p.M72L|KLHL2_ENST00000509028.1_3'UTR|KLHL2_ENST00000514860.1_Missense_Mutation_p.M242L|KLHL2_ENST00000538127.1_Missense_Mutation_p.M150L|KLHL2_ENST00000421009.2_Missense_Mutation_p.M141L	p.M238L	NM_007246.3	NP_009177.3	O95198	KLHL2_HUMAN		GBM - Glioblastoma multiforme(119;2.94e-27)|COAD - Colon adenocarcinoma(41;1.4e-05)|Kidney(143;4.95e-05)|KIRC - Kidney renal clear cell carcinoma(143;0.000927)	7	971	+	all_hematologic(180;0.221)		238					A6NCM7|B2RD18|B4DFH7|F5H6M3|Q8N484|Q8TBH5	Missense_Mutation	SNP	ENST00000226725.6	37	c.712A>C	CCDS34094.1	.	.	.	.	.	.	.	.	.	.	A	4.803	0.149254	0.09185	.	.	ENSG00000109466	ENST00000226725;ENST00000514860;ENST00000538127;ENST00000421009;ENST00000506761	T;T;T;T;T	0.64260	-0.09;-0.09;-0.09;-0.09;-0.09	5.98	5.98	0.97165	BTB/Kelch-associated (2);	0.044561	0.85682	D	0.000000	T	0.29652	0.0740	N	0.01464	-0.85	0.47737	D	0.9995	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.38286	-0.9668	10	0.02654	T	1	.	11.5024	0.50446	0.9306:0.0:0.0694:0.0	.	242;238	B4DFH7;O95198	.;KLHL2_HUMAN	L	238;242;150;141;72	ENSP00000226725:M238L;ENSP00000424198:M242L;ENSP00000437526:M150L;ENSP00000408974:M141L;ENSP00000424108:M72L	ENSP00000226725:M238L	M	+	1	0	KLHL2	166438268	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	2.658000	0.46733	2.296000	0.77279	0.482000	0.46254	ATG		0.393	KLHL2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000364439.1			4	174	0	0	0	0.014758	0	4	174					C	166218818	A	C	166218818	3	2	12	1	0	0	0	0	1	0	0	0	8374	449	16	5	780	5	KLHL2	4	166218818	Missense_Mutation	SNP	A	TCGA-CH-5737-01A-11D-1576-08	94663136	166218818	24935458	25	417											
F11	2160	broad.mit.edu	37	chr4	187206814	187206814	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tagagtcacctaagattttgCgtgtctacagtggcatttta	10	15	9	7	1	2	2	1	0	1	2	2	2	2	2	1	1	2	1	1	1	4	7	rs369435407		TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr4:187206814C>T	ENST00000403665.2	+	12	1679	c.1327C>T	c.(1327-1329)Cgt>Tgt	p.R443C	F11_ENST00000264692.4_Missense_Mutation_p.R391C|F11-AS1_ENST00000505103.1_RNA	NM_000128.3	NP_000119.1	P03951	FA11_HUMAN	coagulation factor XI	443	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|plasminogen activation (GO:0031639)|positive regulation of fibrinolysis (GO:0051919)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|serine-type aminopeptidase activity (GO:0070009)|serine-type endopeptidase activity (GO:0004252)	p.R443C(1)		NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(15)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	32		all_cancers(14;6.2e-52)|all_epithelial(14;1.62e-38)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Colorectal(36;0.0161)|all_neural(102;0.202)		OV - Ovarian serous cystadenocarcinoma(60;2.13e-11)|BRCA - Breast invasive adenocarcinoma(30;4.59e-06)|GBM - Glioblastoma multiforme(59;0.000149)|STAD - Stomach adenocarcinoma(60;0.000314)|LUSC - Lung squamous cell carcinoma(40;0.00112)|READ - Rectum adenocarcinoma(43;0.176)	Coagulation Factor IX(DB00100)	TAAGATTTTGCGTGTCTACAG	0.358																																						ENST00000264692.4																			1	Substitution - Missense(1)	p.R443C(1)	lung(1)	NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(15)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	32	GRCh37	CM062624	F11	M		c.(1171-1173)Cgt>Tgt		coagulation factor XI	Coagulation Factor IX(DB00100)	C	CYS/ARG	0,4406		0,0,2203	121	122	122		1327	4.9	1	4		122	1,8599	1.2+/-3.3	0,1,4299	no	missense	F11	NM_000128.3	180	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	443/626	187206814	1,13005	2203	4300	6503	SO:0001583	missense	2160				blood coagulation, intrinsic pathway|plasminogen activation|positive regulation of fibrinolysis	extracellular space|plasma membrane	heparin binding|serine-type endopeptidase activity	g.chr4:187206814C>T	M13142	CCDS3847.1	4q35	2008-08-01	2008-08-01		ENSG00000088926	ENSG00000088926	3.4.21.27		3529	protein-coding gene	gene with protein product	"plasma thromboplastin antecedent"	264900					Standard	NM_000128		Approved	FXI	uc003iza.1	P03951	OTTHUMG00000150311	ENST00000403665.2:c.1327C>T	4.37:g.187206814C>T	ENSP00000384957:p.Arg443Cys					F11_ENST00000403665.2_Missense_Mutation_p.R443C	p.R391C			P03951	FA11_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;2.13e-11)|BRCA - Breast invasive adenocarcinoma(30;4.59e-06)|GBM - Glioblastoma multiforme(59;0.000149)|STAD - Stomach adenocarcinoma(60;0.000314)|LUSC - Lung squamous cell carcinoma(40;0.00112)|READ - Rectum adenocarcinoma(43;0.176)	12	1504	+		all_cancers(14;6.2e-52)|all_epithelial(14;1.62e-38)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Colorectal(36;0.0161)|all_neural(102;0.202)	443			Peptidase S1.		D3DP64|Q4W5C2|Q9Y495	Missense_Mutation	SNP	ENST00000403665.2	37	c.1171C>T	CCDS3847.1	.	.	.	.	.	.	.	.	.	.	C	18.58	3.655726	0.67586	0.0	1.16E-4	ENSG00000088926	ENST00000403665;ENST00000264692	D;D	0.89617	-2.54;-2.54	4.86	4.86	0.63082	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.278238	0.31673	N	0.007243	D	0.93861	0.8036	M	0.81341	2.54	0.48395	D	0.999649	D	0.89917	1.0	D	0.76071	0.987	D	0.93783	0.7085	9	.	.	.	.	13.1878	0.59691	0.1594:0.8406:0.0:0.0	.	443	P03951	FA11_HUMAN	C	443;391	ENSP00000384957:R443C;ENSP00000264692:R391C	.	R	+	1	0	F11	187443808	1.000000	0.71417	0.997000	0.53966	0.900000	0.52787	3.339000	0.52135	2.504000	0.84457	0.650000	0.86243	CGT		0.358	F11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317519.4			4	215	0	0	0	0.014758	0	4	215					T	187206814	C	T	187206814	3	4	12	1	0	0	0	0	1	0	0	0	5337	768	27	1	1369	1	F11	4	187206814	Missense_Mutation	SNP	C	TCGA-CH-5737-01A-11D-1576-08	20987996	187206814	3947462	26	418											
CDH12	1010	broad.mit.edu	37	chr5	21755850	21755850	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cattgtgtttgtgctgctctGgacagggtagctgctgtctt	4	16	13	8	0	2	0	0	0	2	0	2	1	2	1	0	2	4	6	0	2	1	4			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr5:21755850G>A	ENST00000382254.1	-	14	2821	c.1735C>T	c.(1735-1737)Cag>Tag	p.Q579*	CDH12_ENST00000521384.1_5'UTR|CDH12_ENST00000522262.1_Nonsense_Mutation_p.Q539*|CDH12_ENST00000504376.2_Nonsense_Mutation_p.Q579*|RP11-804N13.1_ENST00000522350.1_RNA	NM_004061.3	NP_004052.2	P55289	CAD12_HUMAN	cadherin 12, type 2 (N-cadherin 2)	579	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.Q579*(1)		NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						GTGCTGCTCTGGACAGGGTAG	0.468										HNSCC(59;0.17)																												ENST00000382254.1																			1	Substitution - Nonsense(1)	p.Q579*(1)	prostate(1)	NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						c.(1735-1737)Cag>Tag		cadherin 12, type 2 (N-cadherin 2)							186	152	164					5																	21755850		2203	4300	6503	SO:0001587	stop_gained	1010				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:21755850G>A	L33477	CCDS3890.1	5p14.3	2010-01-26			ENSG00000154162	ENSG00000154162		"Cadherins / Major cadherins"	1751	protein-coding gene	gene with protein product		600562				7731968	Standard	NM_004061		Approved	Br-cadherin, CDHB	uc003jgk.2	P55289	OTTHUMG00000090591	ENST00000382254.1:c.1735C>T	5.37:g.21755850G>A	ENSP00000371689:p.Gln579*	HNSCC(59;0.17)				CDH12_ENST00000522262.1_Nonsense_Mutation_p.Q539*|RP11-804N13.1_ENST00000522350.1_RNA|CDH12_ENST00000521384.1_5'UTR|CDH12_ENST00000504376.2_Nonsense_Mutation_p.Q579*	p.Q579*	NM_004061.3	NP_004052.2	P55289	CAD12_HUMAN			14	2821	-			579			Cadherin 5.		B2RBT1|B7Z2U6|Q86UD2	Nonsense_Mutation	SNP	ENST00000382254.1	37	c.1735C>T	CCDS3890.1	.	.	.	.	.	.	.	.	.	.	G	42	9.822160	0.99272	.	.	ENSG00000154162	ENST00000504376;ENST00000382254;ENST00000522262	.	.	.	5.47	5.47	0.80525	.	0.105656	0.64402	D	0.000004	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	19.3164	0.94215	0.0:0.0:1.0:0.0	.	.	.	.	X	579;579;539	.	ENSP00000371689:Q579X	Q	-	1	0	CDH12	21791607	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	4.819000	0.62664	2.572000	0.86782	0.460000	0.39030	CAG		0.468	CDH12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207139.1	NM_004061		4	207	0	0	0	0.021553	0	4	207					A	21755850	G	A	21755850	4	1	12	1	0	0	0	0	0	1	0	0	3098	1357	47	3	657	3	CDH12	5	21755850	Nonsense_Mutation	SNP	G	TCGA-CH-5737-01A-11D-1576-08		21755850	159159410	27	419											
CDH6	1004	broad.mit.edu	37	chr5	31317551	31317551	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	accaattttcgttttccttgGcccctgaagcagccagtggc	7	12	9	13	1	0	1	0	1	0	0	2	1	1	1	5	2	2	2	5	2	2	5			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr5:31317551G>A	ENST00000265071.2	+	10	1847	c.1582G>A	c.(1582-1584)Gcc>Acc	p.A528T	CDH6_ENST00000514738.1_Missense_Mutation_p.A473T	NM_004932.3	NP_004923.1	P55285	CADH6_HUMAN	cadherin 6, type 2, K-cadherin (fetal kidney)	528	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.A528T(1)		NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						GTTTTCCTTGGCCCCTGAAGC	0.413																																						ENST00000265071.2																			1	Substitution - Missense(1)	p.A528T(1)	prostate(1)	NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						c.(1582-1584)Gcc>Acc		cadherin 6, type 2, K-cadherin (fetal kidney)							90	88	88					5																	31317551		2203	4300	6503	SO:0001583	missense	1004				adherens junction organization|cell junction assembly|homophilic cell adhesion	cytoplasm|integral to membrane|nucleus|plasma membrane	calcium ion binding	g.chr5:31317551G>A	D31784	CCDS3894.1	5p13.3	2010-01-26			ENSG00000113361	ENSG00000113361		"Cadherins / Major cadherins"	1765	protein-coding gene	gene with protein product	"K-Cadherin"	603007				7743525, 10191097	Standard	NM_004932		Approved		uc003jhe.2	P55285	OTTHUMG00000090673	ENST00000265071.2:c.1582G>A	5.37:g.31317551G>A	ENSP00000265071:p.Ala528Thr					CDH6_ENST00000514738.1_Missense_Mutation_p.A473T	p.A528T	NM_004932.3	NP_004923.1	P55285	CADH6_HUMAN			10	1847	+			528			Cadherin 5.		A8K5H5|Q9BWS0	Missense_Mutation	SNP	ENST00000265071.2	37	c.1582G>A	CCDS3894.1	.	.	.	.	.	.	.	.	.	.	G	16.55	3.154431	0.57259	.	.	ENSG00000113361	ENST00000514738;ENST00000265071	T;T	0.51325	0.71;0.71	4.75	4.75	0.60458	Cadherin (4);Cadherin-like (1);	0.354854	0.32473	N	0.006041	T	0.50257	0.1605	L	0.43646	1.37	0.58432	D	0.999998	P;P	0.48998	0.918;0.846	P;P	0.49451	0.604;0.611	T	0.38415	-0.9662	10	0.26408	T	0.33	.	18.3208	0.90238	0.0:0.0:1.0:0.0	.	528;528	P55285;P55285-2	CADH6_HUMAN;.	T	473;528	ENSP00000424843:A473T;ENSP00000265071:A528T	ENSP00000265071:A528T	A	+	1	0	CDH6	31353308	1.000000	0.71417	1.000000	0.80357	0.831000	0.47069	5.921000	0.70028	2.621000	0.88768	0.650000	0.86243	GCC		0.413	CDH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207355.2	NM_004932		51	163	0	0	0	0.139131	0	51	163					A	31317551	G	A	31317551	3	1	12	1	0	0	0	0	1	0	0	0	3114	1203	42	3	1616	3	CDH6	5	31317551	Missense_Mutation	SNP	G	TCGA-CH-5737-01A-11D-1576-08	9561701	31317551	149597709	28	420											
MTMR12	54545	broad.mit.edu	37	chr5	32274132	32274132	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacccaagaaggcaatcttgAagtctgtgcagacaagcctc	13	7	9	12	0	2	3	0	1	2	2	3	3	2	3	2	1	2	2	2	1	5	1			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr5:32274132A>C	ENST00000382142.3	-	3	409	c.239T>G	c.(238-240)tTc>tGc	p.F80C	MTMR12_ENST00000264934.5_Missense_Mutation_p.F80C|MTMR12_ENST00000280285.5_Missense_Mutation_p.F80C	NM_001040446.1	NP_001035536.1	Q9C0I1	MTMRC_HUMAN	myotubularin related protein 12	80						cytoplasm (GO:0005737)	phosphatase activity (GO:0016791)	p.F80C(1)		breast(3)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						GGCAATCTTGAAGTCTGTGCA	0.483																																						ENST00000382142.3																			1	Substitution - Missense(1)	p.F80C(1)	prostate(1)	breast(3)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						c.(238-240)tTc>tGc		myotubularin related protein 12							203	175	185					5																	32274132		2203	4300	6503	SO:0001583	missense	54545					cytoplasm	phosphatase activity	g.chr5:32274132A>C	AB051469	CCDS34138.1, CCDS75230.1	5p15.33	2011-06-09	2005-04-07	2005-04-07	ENSG00000150712	ENSG00000150712		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"	18191	protein-coding gene	gene with protein product		606501	"phosphatidylinositol-3-phosphate associated protein"	PIP3AP		11504939, 12495846	Standard	XM_005248313		Approved	3-PAP, FLJ20476, KIAA1682, 3PAP	uc003jhq.3	Q9C0I1	OTTHUMG00000161978	ENST00000382142.3:c.239T>G	5.37:g.32274132A>C	ENSP00000371577:p.Phe80Cys					MTMR12_ENST00000280285.5_Missense_Mutation_p.F80C|MTMR12_ENST00000264934.5_Missense_Mutation_p.F80C	p.F80C	NM_001040446.1	NP_001035536.1	Q9C0I1	MTMRC_HUMAN			3	409	-			80					Q69YJ4|Q6PFW3|Q96QU2|Q9NX27	Missense_Mutation	SNP	ENST00000382142.3	37	c.239T>G	CCDS34138.1	.	.	.	.	.	.	.	.	.	.	A	20.5	3.999567	0.74818	.	.	ENSG00000150712	ENST00000280285;ENST00000382142;ENST00000264934	D;D;D	0.85955	-2.05;-2.05;-2.05	4.8	4.8	0.61643	.	0.000000	0.85682	D	0.000000	D	0.91643	0.7359	M	0.75264	2.295	0.58432	D	0.999998	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.997;0.998;0.996	D	0.92762	0.6225	10	0.87932	D	0	.	14.6502	0.68792	1.0:0.0:0.0:0.0	.	80;80;80	Q9C0I1-3;Q9C0I1-2;Q9C0I1	.;.;MTMRC_HUMAN	C	80	ENSP00000280285:F80C;ENSP00000371577:F80C;ENSP00000264934:F80C	ENSP00000264934:F80C	F	-	2	0	MTMR12	32309889	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.410000	0.73294	1.912000	0.55364	0.448000	0.29417	TTC		0.483	MTMR12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366579.1	NM_019061		12	310	0	0	0	0.105934	0	12	310					C	32274132	A	C	32274132	3	2	12	1	0	0	0	0	1	0	0	0	9941	246	9	5	2060	5	MTMR12	5	32274132	Missense_Mutation	SNP	A	TCGA-CH-5737-01A-11D-1576-08	956581	32274132	148641128	29	421											
SKIV2L2	23517	broad.mit.edu	37	chr5	54635836	54635836	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttatttgttttcacatttgtAggtatgccattgcattggcc	7	19	8	7	0	1	0	1	0	0	0	1	0	1	0	2	2	2	4	2	2	3	9			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr5:54635836A>G	ENST00000230640.5	+	6	769		c.e6-1		SKIV2L2_ENST00000545714.1_Splice_Site	NM_015360.4	NP_056175.3	P42285	SK2L2_HUMAN	superkiller viralicidic activity 2-like 2 (S. cerevisiae)						maturation of 5.8S rRNA (GO:0000460)|mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)	p.?(1)		NS(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|lung(12)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Lung NSC(810;0.000744)|Breast(144;0.181)|Prostate(74;0.194)				TCACATTTGTAGGTATGCCAT	0.303																																					Melanoma(2;92 134 23744 29976 33782)	ENST00000230640.5																			1	Unknown(1)	p.?(1)	prostate(1)	NS(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|lung(12)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						c.e6-1		superkiller viralicidic activity 2-like 2 (S. cerevisiae)							83	79	80					5																	54635836		2203	4300	6503	SO:0001630	splice_region_variant	23517				maturation of 5.8S rRNA	catalytic step 2 spliceosome|nucleolus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding	g.chr5:54635836A>G	D29641	CCDS3967.1	5q11.2	2008-11-25	2005-02-18	2005-02-18	ENSG00000039123	ENSG00000039123			18734	protein-coding gene	gene with protein product	"functional spliceosome-associated protein 118"		"KIAA0052"	KIAA0052			Standard	NM_015360		Approved	Mtr4, Dob1, fSAP118	uc003jpy.4	P42285	OTTHUMG00000097019	ENST00000230640.5:c.516-1A>G	5.37:g.54635836A>G						SKIV2L2_ENST00000545714.1_Splice_Site		NM_015360.4	NP_056175.3	P42285	SK2L2_HUMAN			6	769	+		Lung NSC(810;0.000744)|Breast(144;0.181)|Prostate(74;0.194)						Q2M386|Q6MZZ8|Q6P170|Q8N5R0|Q8TAG2	Splice_Site	SNP	ENST00000230640.5	37		CCDS3967.1	.	.	.	.	.	.	.	.	.	.	A	23.6	4.431492	0.83776	.	.	ENSG00000039123	ENST00000230640;ENST00000545714	.	.	.	5.98	5.98	0.97165	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.4566	0.84019	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SKIV2L2	54671593	1.000000	0.71417	0.996000	0.52242	0.947000	0.59692	9.006000	0.93592	2.293000	0.77203	0.477000	0.44152	.		0.303	SKIV2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214108.1		Intron	25	120	0	0	0	0.083992	0	25	120					G	54635836	A	G	54635836	5	3	12	1	0	0	0	0	0	0	1	0	14360	434	15	4	536	4	SKIV2L2	5	54635836	Splice_Site	SNP	A	TCGA-CH-5737-01A-11D-1576-08	22361704	54635836	126279424	30	422											
ARSB	411	broad.mit.edu	37	chr5	78260259	78260259	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cttctctggtggatggttagTtatgagggctatagcccttt	6	16	12	7	0	1	1	0	1	1	0	2	2	1	2	1	4	1	3	1	4	4	6			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr5:78260259T>G	ENST00000264914.4	-	3	1206	c.670A>C	c.(670-672)Act>Cct	p.T224P	ARSB_ENST00000565165.1_Missense_Mutation_p.T224P|ARSB_ENST00000396151.3_Missense_Mutation_p.T224P	NM_000046.3	NP_000037.2	P15848	ARSB_HUMAN	arylsulfatase B	224					autophagy (GO:0006914)|carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|central nervous system development (GO:0007417)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|glycosphingolipid metabolic process (GO:0006687)|lysosomal transport (GO:0007041)|lysosome organization (GO:0007040)|post-translational protein modification (GO:0043687)|response to estrogen (GO:0043627)|response to methylmercury (GO:0051597)|response to nutrient (GO:0007584)|response to pH (GO:0009268)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)|mitochondrion (GO:0005739)|rough endoplasmic reticulum (GO:0005791)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)|N-acetylgalactosamine-4-sulfatase activity (GO:0003943)			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		all_lung(232;0.000637)|Lung NSC(167;0.00173)|Ovarian(174;0.0105)|Prostate(461;0.192)		OV - Ovarian serous cystadenocarcinoma(54;4.24e-44)|Epithelial(54;3.12e-39)|all cancers(79;3.02e-34)		GGATGGTTAGTTATGAGGGCT	0.363																																					Melanoma(169;563 1968 25780 26156 52266)	ENST00000264914.4																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						c.(670-672)Act>Cct		arylsulfatase B							79	80	80					5																	78260259		2203	4300	6503	SO:0001583	missense	411				lysosomal transport|lysosome organization	lysosome	arylsulfatase activity|metal ion binding|N-acetylgalactosamine-4-sulfatase activity	g.chr5:78260259T>G	M32373	CCDS4043.1, CCDS43334.1	5q14.1	2013-02-14			ENSG00000113273	ENSG00000113273	3.1.6.1	"Arylsulfatase family"	714	protein-coding gene	gene with protein product		611542				2303452	Standard	NM_000046		Approved		uc003kfq.3	P15848	OTTHUMG00000108129	ENST00000264914.4:c.670A>C	5.37:g.78260259T>G	ENSP00000264914:p.Thr224Pro					ARSB_ENST00000396151.3_Missense_Mutation_p.T224P|ARSB_ENST00000565165.1_Missense_Mutation_p.T224P	p.T224P	NM_000046.3	NP_000037.2	P15848	ARSB_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;4.24e-44)|Epithelial(54;3.12e-39)|all cancers(79;3.02e-34)	3	1206	-		all_lung(232;0.000637)|Lung NSC(167;0.00173)|Ovarian(174;0.0105)|Prostate(461;0.192)	224					B2RC20|Q8N322|Q9UDI9	Missense_Mutation	SNP	ENST00000264914.4	37	c.670A>C	CCDS4043.1	.	.	.	.	.	.	.	.	.	.	T	12.89	2.073368	0.36566	.	.	ENSG00000113273	ENST00000264914;ENST00000396151	D;D	0.96365	-3.99;-3.99	5.36	-0.353	0.12594	Alkaline phosphatase-like, alpha/beta/alpha (1);Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.863758	0.10545	N	0.662193	D	0.93151	0.7819	L	0.54323	1.7	0.29528	N	0.852985	B;B	0.23185	0.081;0.006	B;B	0.23018	0.043;0.015	D	0.85835	0.1394	10	0.46703	T	0.11	.	6.7585	0.23528	0.1146:0.6655:0.0:0.2199	.	224;224	Q8N322;P15848	.;ARSB_HUMAN	P	224	ENSP00000264914:T224P;ENSP00000379455:T224P	ENSP00000264914:T224P	T	-	1	0	ARSB	78296015	0.965000	0.33210	0.884000	0.34674	0.980000	0.70556	0.213000	0.17521	-0.315000	0.08703	-0.256000	0.11100	ACT		0.363	ARSB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226932.2	NM_000046		3	191	0	0	0	0.115264	0	3	191					G	78260259	T	G	78260259	3	3	12	1	0	0	0	0	1	0	0	0	988	1725	60	5	988	5	ARSB	5	78260259	Missense_Mutation	SNP	T	TCGA-CH-5737-01A-11D-1576-08	23624423	78260259	102655001	31	423											
KCNN2	3781	broad.mit.edu	37	chr5	113740445	113740445	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	taataagataaacttcaataCacgttttgttatgaagactt	16	15	5	5	1	1	3	1	1	0	2	1	3	1	3	0	0	2	2	0	0	8	9			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr5:113740445C>G	ENST00000512097.3	+	4	1911	c.893C>G	c.(892-894)aCa>aGa	p.T298R	KCNN2_ENST00000264773.3_Missense_Mutation_p.T298R|KCNN2_ENST00000507750.1_Intron			Q9H2S1	KCNN2_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 2	298					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of potassium ion transmembrane transport (GO:1901379)|synaptic transmission (GO:0007268)	dendritic spine (GO:0043197)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|calcium-activated potassium channel activity (GO:0015269)|calmodulin binding (GO:0005516)|protein homodimerization activity (GO:0042803)|small conductance calcium-activated potassium channel activity (GO:0016286)	p.T298R(2)		breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(142;2.86e-05)|all_epithelial(76;9.33e-06)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Breast(839;0.159)|Lung NSC(810;0.174)|all_lung(232;0.206)		OV - Ovarian serous cystadenocarcinoma(64;1.89e-08)|Epithelial(69;2.04e-08)|all cancers(49;3.74e-06)|COAD - Colon adenocarcinoma(37;0.142)|Colorectal(14;0.195)	Miconazole(DB01110)|Procaine(DB00721)	AACTTCAATACACGTTTTGTT	0.383																																						ENST00000512097.3																			2	Substitution - Missense(2)	p.T298R(2)	prostate(2)	breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						c.(892-894)aCa>aGa		potassium intermediate/small conductance calcium-activated channel, subfamily N, member 2							131	129	130					5																	113740445		2202	4300	6502	SO:0001583	missense	3781					integral to membrane	calmodulin binding|small conductance calcium-activated potassium channel activity	g.chr5:113740445C>G	AF239613	CCDS4114.1, CCDS43352.1	5q22.3	2012-07-05			ENSG00000080709	ENSG00000080709		"Potassium channels", "Voltage-gated ion channels / Potassium channels, calcium-activated"	6291	protein-coding gene	gene with protein product		605879				16382103	Standard	NM_001278204		Approved	KCa2.2, hSK2	uc003kqo.3	Q9H2S1	OTTHUMG00000128836	ENST00000512097.3:c.893C>G	5.37:g.113740445C>G	ENSP00000427120:p.Thr298Arg					KCNN2_ENST00000507750.1_Intron|KCNN2_ENST00000264773.3_Missense_Mutation_p.T298R	p.T298R			Q9H2S1	KCNN2_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;1.89e-08)|Epithelial(69;2.04e-08)|all cancers(49;3.74e-06)|COAD - Colon adenocarcinoma(37;0.142)|Colorectal(14;0.195)	4	1911	+		all_cancers(142;2.86e-05)|all_epithelial(76;9.33e-06)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Breast(839;0.159)|Lung NSC(810;0.174)|all_lung(232;0.206)	298					A6NF94|Q0VFZ4|Q6PJI0|Q6X2Y2	Missense_Mutation	SNP	ENST00000512097.3	37	c.893C>G	CCDS4114.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.296668	0.81025	.	.	ENSG00000080709	ENST00000512097;ENST00000264773	D;D	0.98747	-5.11;-5.11	5.42	5.42	0.78866	.	0.047810	0.85682	D	0.000000	D	0.99130	0.9700	M	0.85710	2.77	0.80722	D	1	D	0.58268	0.982	D	0.64321	0.924	D	0.99675	1.0997	10	0.72032	D	0.01	-5.339	18.8255	0.92117	0.0:1.0:0.0:0.0	.	298	Q9H2S1	KCNN2_HUMAN	R	298	ENSP00000427120:T298R;ENSP00000264773:T298R	ENSP00000264773:T298R	T	+	2	0	KCNN2	113768344	1.000000	0.71417	0.974000	0.42286	0.991000	0.79684	7.723000	0.84788	2.545000	0.85829	0.491000	0.48974	ACA		0.383	KCNN2-001	KNOWN	not_organism_supported|upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250775.2	NM_021614		7	376	0	0	0	0.02938	0	7	376					G	113740445	C	G	113740445	3	3	12	1	0	0	0	0	1	0	0	0	8079	478	17	5	903	5	KCNN2	5	113740445	Missense_Mutation	SNP	C	TCGA-CH-5737-01A-11D-1576-08	35480186	113740445	67174815	32	424											
SNCAIP	9627	broad.mit.edu	37	chr5	121786251	121786251	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accatcctcacctgcctccaGaaagtcccagtggaaatctc	11	8	6	16	0	2	1	1	0	1	1	6	2	5	2	6	1	1	0	6	1	2	0			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr5:121786251G>T	ENST00000261368.8	+	10	1971	c.1709G>T	c.(1708-1710)aGa>aTa	p.R570I	CTC-210G5.1_ENST00000503529.1_RNA|SNCAIP_ENST00000503116.2_3'UTR|SNCAIP_ENST00000379536.2_Missense_Mutation_p.R510I|SNCAIP_ENST00000414317.2_Missense_Mutation_p.R172I|SNCAIP_ENST00000379538.3_Missense_Mutation_p.R204I|CTC-210G5.1_ENST00000510972.1_RNA|SNCAIP_ENST00000504884.2_3'UTR|CTC-210G5.1_ENST00000506053.1_RNA|CTC-210G5.1_ENST00000509993.1_RNA|SNCAIP_ENST00000379533.2_Missense_Mutation_p.R617I|SNCAIP_ENST00000261367.7_Missense_Mutation_p.R617I|SNCAIP_ENST00000542191.1_Missense_Mutation_p.R128I|CTC-210G5.1_ENST00000505546.1_RNA	NM_005460.2	NP_005451.2	Q9Y6H5	SNCAP_HUMAN	synuclein, alpha interacting protein	570					cell death (GO:0008219)|dopamine metabolic process (GO:0042417)|regulation of inclusion body assembly (GO:0090083)|regulation of neurotransmitter secretion (GO:0046928)	cytoplasm (GO:0005737)|neuronal cell body (GO:0043025)|presynaptic membrane (GO:0042734)|synaptic vesicle (GO:0008021)	identical protein binding (GO:0042802)|ubiquitin protein ligase binding (GO:0031625)	p.R617I(1)|p.R570I(1)		NS(3)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	39		all_cancers(142;0.00787)|Prostate(80;0.0327)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232)		CCTGCCTCCAGAAAGTCCCAG	0.458																																						ENST00000261367.7																			2	Substitution - Missense(2)	p.R617I(1)|p.R570I(1)	prostate(2)	NS(3)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	39						c.(1849-1851)aGa>aTa		synuclein, alpha interacting protein							117	132	127					5																	121786251		2203	4299	6502	SO:0001583	missense	9627				cell death|dopamine metabolic process|regulation of inclusion body assembly|regulation of neurotransmitter secretion	cytoplasm|neuronal cell body|nucleolus|presynaptic membrane	ubiquitin protein ligase binding	g.chr5:121786251G>T	AF167306	CCDS4131.1, CCDS58964.1	5q23.2	2013-01-10	2008-07-31		ENSG00000064692	ENSG00000064692		"Ankyrin repeat domain containing"	11139	protein-coding gene	gene with protein product	"synphilin"	603779				10319874	Standard	NM_001242935		Approved	SYPH1	uc003ksw.1	Q9Y6H5	OTTHUMG00000128915	ENST00000261368.8:c.1709G>T	5.37:g.121786251G>T	ENSP00000261368:p.Arg570Ile					CTC-210G5.1_ENST00000503529.1_RNA|SNCAIP_ENST00000379538.3_Missense_Mutation_p.R204I|SNCAIP_ENST00000379536.2_Missense_Mutation_p.R510I|CTC-210G5.1_ENST00000510972.1_RNA|CTC-210G5.1_ENST00000505546.1_RNA|SNCAIP_ENST00000379533.2_Missense_Mutation_p.R617I|CTC-210G5.1_ENST00000509993.1_RNA|SNCAIP_ENST00000503116.2_3'UTR|CTC-210G5.1_ENST00000506053.1_RNA|SNCAIP_ENST00000542191.1_Missense_Mutation_p.R128I|SNCAIP_ENST00000504884.2_3'UTR|SNCAIP_ENST00000414317.2_Missense_Mutation_p.R172I|SNCAIP_ENST00000261368.8_Missense_Mutation_p.R570I	p.R617I			Q9Y6H5	SNCAP_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232)	12	3278	+		all_cancers(142;0.00787)|Prostate(80;0.0327)	570					D3DSZ1|Q05BS1|Q1PSC2|Q49AC6|Q504U9|Q6L984|Q6L985|Q6L986|Q9HC59	Missense_Mutation	SNP	ENST00000261368.8	37	c.1850G>T	CCDS4131.1	.	.	.	.	.	.	.	.	.	.	G	13.77	2.336585	0.41398	.	.	ENSG00000064692	ENST00000542191;ENST00000509154;ENST00000261368;ENST00000379533;ENST00000379536;ENST00000379538;ENST00000261367;ENST00000414317;ENST00000447854	T;T;T;T;T;T;T;T	0.13538	4.42;4.92;2.63;2.58;4.92;4.91;2.58;4.64	5.92	4.11	0.48088	.	0.296144	0.35772	N	0.002997	T	0.07279	0.0184	N	0.08118	0	0.41394	D	0.987636	B;B;B;B;B;B;B;B	0.34015	0.138;0.112;0.25;0.006;0.355;0.017;0.435;0.01	B;B;B;B;B;B;B;B	0.30495	0.051;0.034;0.037;0.005;0.101;0.009;0.116;0.002	T	0.36529	-0.9744	10	0.37606	T	0.19	-15.2987	12.3913	0.55360	0.0649:0.119:0.8161:0.0	.	510;198;172;510;204;204;617;570	D6R9G8;Q9NVG1;B7Z995;Q9Y6H5-4;Q9Y6H5-5;Q9Y6H5-2;Q9Y6H5-3;Q9Y6H5	.;.;.;.;.;.;.;SNCAP_HUMAN	I	128;510;570;617;510;204;617;172;210	ENSP00000441681:R128I;ENSP00000422106:R510I;ENSP00000261368:R570I;ENSP00000368848:R617I;ENSP00000368851:R510I;ENSP00000368854:R204I;ENSP00000261367:R617I;ENSP00000394392:R172I	ENSP00000261367:R617I	R	+	2	0	SNCAIP	121814150	1.000000	0.71417	0.705000	0.30386	0.931000	0.56810	2.492000	0.45311	0.796000	0.33947	0.655000	0.94253	AGA		0.458	SNCAIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250888.1			11	348	1	0	3.86212e-05	0.069234	4.33697e-05	11	348					T	121786251	G	T	121786251	3	4	12	1	0	0	0	0	1	0	0	0	14841	942	33	5	1743	5	SNCAIP	5	121786251	Missense_Mutation	SNP	G	TCGA-CH-5737-01A-11D-1576-08	8045806	121786251	59129009	33	425											
MATR3	9782	broad.mit.edu	37	chr5	138643657	138643657	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gggaagaaaaaaggcactttAgaagagatagttttgatgat	17	10	12	2	0	0	5	0	2	0	3	0	7	0	6	0	2	0	2	0	2	7	5			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr5:138643657A>C	ENST00000394805.3	+	2	888	c.553A>C	c.(553-555)Aga>Cga	p.R185R	MATR3_ENST00000502499.1_Intron|MATR3_ENST00000504203.1_Intron|MATR3_ENST00000394800.2_Silent_p.R185R|MATR3_ENST00000502929.1_Silent_p.R185R|MATR3_ENST00000361059.2_Silent_p.R185R|MATR3_ENST00000509990.1_Silent_p.R185R|MATR3_ENST00000503811.1_Intron|MATR3_ENST00000510056.1_Silent_p.R185R	NM_001194955.1|NM_018834.5	NP_001181884.1|NP_061322.2	P43243	MATR3_HUMAN	matrin 3	185					cell death (GO:0008219)	membrane (GO:0016020)|nuclear inner membrane (GO:0005637)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|structural molecule activity (GO:0005198)|zinc ion binding (GO:0008270)	p.R185R(1)		breast(2)|endometrium(3)|kidney(4)|large_intestine(6)|lung(9)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	29			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			AAGGCACTTTAGAAGAGATAG	0.443																																						ENST00000394800.2																			1	Substitution - coding silent(1)	p.R185R(1)	prostate(1)	breast(2)|endometrium(3)|kidney(4)|large_intestine(6)|lung(9)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	29						c.(553-555)Aga>Cga		matrin 3							124	116	119					5																	138643657		2203	4300	6503	SO:0001819	synonymous_variant	9782					nuclear inner membrane|nuclear matrix	nucleotide binding|protein binding|RNA binding|structural molecule activity|zinc ion binding	g.chr5:138643657A>C	M63483	CCDS4210.1, CCDS54908.1, CCDS75316.1	5q31.3	2010-08-12			ENSG00000015479	ENSG00000015479			6912	protein-coding gene	gene with protein product		164015	"myopathy, distal 2"	MPD2		2033075, 19344878	Standard	NM_018834		Approved	KIAA0723, MGC9105, VCPDM	uc003ldx.3	P43243	OTTHUMG00000129229	ENST00000394805.3:c.553A>C	5.37:g.138643657A>C						MATR3_ENST00000509990.1_Silent_p.R185R|MATR3_ENST00000394805.3_Silent_p.R185R|MATR3_ENST00000504203.1_Intron|MATR3_ENST00000502929.1_Silent_p.R185R|MATR3_ENST00000503811.1_Intron|MATR3_ENST00000510056.1_Silent_p.R185R|MATR3_ENST00000502499.1_Intron|MATR3_ENST00000361059.2_Silent_p.R185R	p.R185R			P43243	MATR3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)		6	1102	+			185					B7ZAV5|D3DQC3|Q9UHW0|Q9UQ27	Silent	SNP	ENST00000394805.3	37	c.553A>C	CCDS4210.1																																																																																				0.443	MATR3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251324.2	NM_018834		5	143	0	0	0	0.021553	0	5	143					C	138643657	A	C	138643657	2	2	12	1	0	0	0	0	0	0	0	1	9337	412	15	5		5	MATR3	5	138643657	Silent	SNP	A	TCGA-CH-5737-01A-11D-1576-08	16857406	138643657	42271603	34	426											
PCDHB2	56133	broad.mit.edu	37	chr5	140476346	140476346	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcctccgcgctcggccaccGccacgctgcacgtgctcctg	4	6	11	20	6	0	0	0	0	0	0	3	0	2	0	6	1	3	4	6	1	0	0			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr5:140476346G>A	ENST00000194155.4	+	1	2120	c.1972G>A	c.(1972-1974)Gcc>Acc	p.A658T		NM_018936.2	NP_061759.1	Q9Y5E7	PCDB2_HUMAN	protocadherin beta 2	658	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.A658T(1)		NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CTCGGCCACCGCCACGCTGCA	0.711																																						ENST00000194155.4																			1	Substitution - Missense(1)	p.A658T(1)	prostate(1)	NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	71						c.(1972-1974)Gcc>Acc									35	35	35					5																	140476346		1915	3814	5729	SO:0001583	missense	0				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	g.chr5:140476346G>A	AF152495	CCDS4244.1	5q31	2010-01-26			ENSG00000112852	ENSG00000112852		"Cadherins / Protocadherins : Clustered"	8687	other	protocadherin		606328				10380929	Standard	NM_018936		Approved	PCDH-BETA2	uc003lil.3	Q9Y5E7	OTTHUMG00000129606	ENST00000194155.4:c.1972G>A	5.37:g.140476346G>A	ENSP00000194155:p.Ala658Thr						p.A658T	NM_018936.2	NP_061759.1	Q9Y5E7	PCDB2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	2120	+			658			Cadherin 6.		Q4KMU1	Missense_Mutation	SNP	ENST00000194155.4	37	c.1972G>A	CCDS4244.1	.	.	.	.	.	.	.	.	.	.	G	12.99	2.104468	0.37145	.	.	ENSG00000112852	ENST00000194155	T	0.50548	0.74	3.99	3.99	0.46301	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.44871	0.1314	L	0.49571	1.57	0.28971	N	0.889222	B	0.29590	0.25	B	0.24848	0.056	T	0.50406	-0.8832	9	0.66056	D	0.02	.	16.1298	0.81418	0.0:0.0:1.0:0.0	.	658	Q9Y5E7	PCDB2_HUMAN	T	658	ENSP00000194155:A658T	ENSP00000194155:A658T	A	+	1	0	PCDHB2	140456530	0.260000	0.24053	1.000000	0.80357	0.344000	0.29017	3.030000	0.49720	1.921000	0.55644	0.456000	0.33151	GCC		0.711	PCDHB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251801.2	NM_018936		23	58	0	0	0	0.108266	0	23	58					A	140476346	G	A	140476346	3	1	12	1	0	0	0	0	1	0	0	0	11542	1087	38	1	1974	1	PCDHB2	5	140476346	Missense_Mutation	SNP	G	TCGA-CH-5737-01A-11D-1576-08	1832689	140476346	40438914	35	427											
SH3TC2	79628	broad.mit.edu	37	chr5	148407223	148407223	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	taccatgttgctggacagagGccactgcaaggtgtggaaga	11	8	14	8	0	0	2	0	0	0	2	0	4	0	4	2	4	3	3	2	4	3	2			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr5:148407223G>A	ENST00000515425.1	-	11	2173	c.2072C>T	c.(2071-2073)gCc>gTc	p.A691V	SH3TC2_ENST00000538184.1_Missense_Mutation_p.A238V|SH3TC2_ENST00000512049.1_Missense_Mutation_p.A684V|SH3TC2_ENST00000394358.2_Missense_Mutation_p.A576V|SH3TC2_ENST00000513340.1_5'Flank	NM_024577.3	NP_078853.2	Q8TF17	S3TC2_HUMAN	SH3 domain and tetratricopeptide repeats 2	691					cell death (GO:0008219)|peripheral nervous system myelin maintenance (GO:0032287)|regulation of ERBB signaling pathway (GO:1901184)|regulation of intracellular protein transport (GO:0033157)	cytoplasmic vesicle (GO:0031410)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)		p.A576V(1)|p.A691V(1)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	39			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGGACAGAGGCCACTGCAAG	0.527																																						ENST00000538184.1																			2	Substitution - Missense(2)	p.A576V(1)|p.A691V(1)	prostate(2)	breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	39						c.(712-714)gCc>gTc		SH3 domain and tetratricopeptide repeats 2							117	124	121					5																	148407223		2203	4300	6503	SO:0001583	missense	79628						binding	g.chr5:148407223G>A	AK127248	CCDS4293.1	5q32	2014-09-17			ENSG00000169247	ENSG00000169247		"Tetratricopeptide (TTC) repeat domain containing"	29427	protein-coding gene	gene with protein product		608206				14574644	Standard	NM_024577		Approved	KIAA1985, CMT4C	uc003lpu.3	Q8TF17	OTTHUMG00000129930	ENST00000515425.1:c.2072C>T	5.37:g.148407223G>A	ENSP00000423660:p.Ala691Val					SH3TC2_ENST00000515425.1_Missense_Mutation_p.A691V|SH3TC2_ENST00000512049.1_Missense_Mutation_p.A684V|SH3TC2_ENST00000394358.2_Missense_Mutation_p.A576V	p.A238V			Q8TF17	S3TC2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		7	1601	-			691					B3KWE5|Q14CC0|Q14CF5|Q9H8I5	Missense_Mutation	SNP	ENST00000515425.1	37	c.713C>T	CCDS4293.1	.	.	.	.	.	.	.	.	.	.	G	16.23	3.064834	0.55432	.	.	ENSG00000169247	ENST00000538184;ENST00000515425;ENST00000512049;ENST00000394358	T;T;T;T	0.68025	-0.3;-0.3;-0.3;-0.3	6.16	5.3	0.74995	.	0.059169	0.64402	D	0.000003	T	0.81093	0.4751	M	0.70275	2.135	0.52501	D	0.999955	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.982;0.999;0.999;0.999	D	0.83556	0.0104	10	0.87932	D	0	-17.2659	15.6426	0.77016	0.0653:0.0:0.9347:0.0	.	576;684;691;691	C9JLC3;Q14CC0;E9PDF1;Q8TF17	.;.;.;S3TC2_HUMAN	V	238;691;684;576	ENSP00000441427:A238V;ENSP00000423660:A691V;ENSP00000421860:A684V;ENSP00000377886:A576V	ENSP00000377886:A576V	A	-	2	0	SH3TC2	148387416	1.000000	0.71417	1.000000	0.80357	0.327000	0.28475	9.353000	0.97080	1.632000	0.50472	0.650000	0.86243	GCC		0.527	SH3TC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252186.2	NM_024577		49	176	0	0	0	0.139131	0	49	176					A	148407223	G	A	148407223	3	1	12	1	0	0	0	0	1	0	0	0	14262	1203	42	3	1822	3	SH3TC2	5	148407223	Missense_Mutation	SNP	G	TCGA-CH-5737-01A-11D-1576-08	7930877	148407223	32508037	36	428											
FAT2	2196	broad.mit.edu	37	chr5	150886733	150886733	+	Frame_Shift_Del	DEL	A	A	-																															acccatctcctcgctggaccAggttctcttaatgacaggct																										TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr5:150886733delA	ENST00000261800.5	-	22	12511	c.12499delT	c.(12499-12501)tggfs	p.W4167fs	CTC-251D13.1_ENST00000606930.1_RNA	NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	4167					epithelial cell migration (GO:0010631)|homophilic cell adhesion (GO:0007156)	cell-cell adherens junction (GO:0005913)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TCGCTGGACCAGGTTCTCTTA	0.557																																						ENST00000261800.5																			0				NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196						c.(12499-12501)ggfs		FAT atypical cadherin 2							85	84	85					5																	150886733		2203	4300	6503	SO:0001589	frameshift_variant	2196				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding	g.chr5:150886733delA	AF231022	CCDS4317.1	5q33.1	2014-07-21	2013-05-31		ENSG00000086570	ENSG00000086570		"Cadherins / Cadherin-related"	3596	protein-coding gene	gene with protein product	"cadherin-related family member 9"	604269	"FAT tumor suppressor (Drosophila) homolog 2", "FAT tumor suppressor homolog 2 (Drosophila)"			9693030	Standard	NM_001447		Approved	MEGF1, CDHF8, HFAT2, CDHR9	uc003lue.4	Q9NYQ8	OTTHUMG00000130126	ENST00000261800.5:c.12499delT	5.37:g.150886733delA	ENSP00000261800:p.Trp4167fs						p.W4167fs	NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		22	12511	-		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	4167					O75091|Q9NSR7	Frame_Shift_Del	DEL	ENST00000261800.5	37	c.12499delT	CCDS4317.1																																																																																				0.557	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252434.1	NM_001447		57	163						57	163	---	---	---	---	-	150886733	A	-	150886733	7	5	12	1	0	1	0	1	0	0	0	0	5690	188	7	0	558	0	FAT2	5	150886733	Frame_Shift_Del	DEL	A	TCGA-CH-5737-01A-11D-1576-08	2479510	150886733	30028527	37	429											
ATP10B	23120	broad.mit.edu	37	chr5	160042863	160042863	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accaagtaaggtgagttgatTctccagatgctgtgcagttt	10	13	11	7	0	1	3	0	2	1	1	2	3	1	3	2	1	2	5	2	1	2	4			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr5:160042863T>G	ENST00000327245.5	-	17	3481	c.2635A>C	c.(2635-2637)Aat>Cat	p.N879H	CTC-348L5.1_ENST00000523598.1_RNA	NM_025153.2	NP_079429.2	O94823	AT10B_HUMAN	ATPase, class V, type 10B	879					phospholipid translocation (GO:0045332)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)	p.N879H(1)		NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GTGAGTTGATTCTCCAGATGC	0.493																																						ENST00000327245.5																			1	Substitution - Missense(1)	p.N879H(1)	prostate(1)	NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75						c.(2635-2637)Aat>Cat		ATPase, class V, type 10B							112	110	111					5																	160042863		1921	4130	6051	SO:0001583	missense	23120				ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr5:160042863T>G	AB018258	CCDS43394.1	5q34	2010-04-20	2007-09-19		ENSG00000118322	ENSG00000118322		"ATPases / P-type"	13543	protein-coding gene	gene with protein product			"ATPase, Class V, type 10B"			9872452, 11015572	Standard	NM_025153		Approved	ATPVB, KIAA0715, FLJ21477	uc003lym.1	O94823	OTTHUMG00000163551	ENST00000327245.5:c.2635A>C	5.37:g.160042863T>G	ENSP00000313600:p.Asn879His					CTC-348L5.1_ENST00000523598.1_RNA	p.N879H	NM_025153.2	NP_079429.2	O94823	AT10B_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		17	3481	-	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	879					Q9H725	Missense_Mutation	SNP	ENST00000327245.5	37	c.2635A>C	CCDS43394.1	.	.	.	.	.	.	.	.	.	.	T	23.7	4.449864	0.84101	.	.	ENSG00000118322	ENST00000327245;ENST00000520108	T;T	0.70749	-0.51;-0.51	5.64	5.64	0.86602	ATPase, cation-transporting, domain N (1);HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	0.054385	0.64402	D	0.000001	T	0.71500	0.3347	N	0.24115	0.695	0.47009	D	0.999281	D;D	0.61080	0.989;0.989	P;P	0.61070	0.883;0.883	T	0.70655	-0.4812	9	.	.	.	.	15.0376	0.71761	0.0:0.0:0.0:1.0	.	487;879	Q2YDW8;O94823	.;AT10B_HUMAN	H	879;487	ENSP00000313600:N879H;ENSP00000431081:N487H	.	N	-	1	0	ATP10B	159975441	1.000000	0.71417	0.997000	0.53966	0.993000	0.82548	6.118000	0.71583	2.147000	0.66899	0.533000	0.62120	AAT		0.493	ATP10B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374127.1	NM_025153		114	173	0	0	0	0.139131	0	114	173					G	160042863	T	G	160042863	3	3	12	1	0	0	0	0	1	0	0	0	1117	1783	62	5	1790	5	ATP10B	5	160042863	Missense_Mutation	SNP	T	TCGA-CH-5737-01A-11D-1576-08	9156130	160042863	20872397	38	430											
HIST1H2BH	8345	broad.mit.edu	37	chr6	26252136	26252136	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcctggctcattacaacaaGcgttcgaccatcacctccag	10	8	7	16	3	2	0	2	0	0	0	4	1	3	0	4	1	3	2	4	1	3	2			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr6:26252136G>T	ENST00000356350.2	+	1	258	c.258G>T	c.(256-258)aaG>aaT	p.K86N	HIST1H3F_ENST00000446824.2_5'Flank	NM_003524.2	NP_003515.1	Q93079	H2B1H_HUMAN	histone cluster 1, H2bh	86					chromatin organization (GO:0006325)|nucleosome assembly (GO:0006334)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.K86N(1)		NS(3)|breast(2)|large_intestine(1)|lung(3)|ovary(3)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	17						ATTACAACAAGCGTTCGACCA	0.607																																						ENST00000356350.2																			1	Substitution - Missense(1)	p.K86N(1)	prostate(1)	NS(3)|breast(2)|large_intestine(1)|lung(3)|ovary(3)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	17						c.(256-258)aaG>aaT		histone cluster 1, H2bh							90	94	93					6																	26252136		2203	4300	6503	SO:0001583	missense	8345				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr6:26252136G>T	Z80781	CCDS4601.1	6p21.3	2011-01-27	2006-10-11	2003-02-14	ENSG00000197459	ENSG00000275713		"Histones / Replication-dependent"	4755	protein-coding gene	gene with protein product		602806	"H2B histone family, member J", "histone 1, H2bh"	H2BFJ		9119399, 12408966	Standard	NM_003524		Approved	H2B/j	uc003nhh.3	Q93079	OTTHUMG00000014447	ENST00000356350.2:c.258G>T	6.37:g.26252136G>T	ENSP00000348706:p.Lys86Asn						p.K86N	NM_003524.2	NP_003515.1	Q93079	H2B1H_HUMAN			1	258	+			86					B2R541|Q4VB74	Missense_Mutation	SNP	ENST00000356350.2	37	c.258G>T	CCDS4601.1	.	.	.	.	.	.	.	.	.	.	.	15.28	2.787917	0.49997	.	.	ENSG00000197459	ENST00000356350	T	0.75050	-0.9	4.48	2.66	0.31614	Histone-fold (2);Histone core (1);	0.000000	0.41500	U	0.000874	T	0.75561	0.3866	M	0.69248	2.105	0.29268	N	0.870859	D	0.71674	0.998	D	0.72625	0.978	T	0.70923	-0.4740	10	0.87932	D	0	.	10.4583	0.44563	0.1654:0.0:0.8346:0.0	.	86	Q93079	H2B1H_HUMAN	N	86	ENSP00000348706:K86N	ENSP00000348706:K86N	K	+	3	2	HIST1H2BH	26360115	1.000000	0.71417	1.000000	0.80357	0.003000	0.03518	3.839000	0.55835	0.574000	0.29417	0.543000	0.68304	AAG		0.607	HIST1H2BH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040110.1	NM_003524		15	167	1	0	1.35283e-19	0.146539	1.62577e-19	15	167					T	26252136	G	T	26252136	3	4	12	1	0	0	0	0	1	0	0	0	7147	962	34	5	260	5	HIST1H2BH	6	26252136	Missense_Mutation	SNP	G	TCGA-CH-5737-01A-11D-1576-08		26252136	144862931	39	431											
BTN3A1	11119	broad.mit.edu	37	chr6	26407900	26407900	+	Splice_Site	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctaattcatccttccacagcActgggttctgatcttcacgt	8	14	6	13	1	4	1	2	1	2	0	6	1	6	1	2	1	1	2	2	1	1	5			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr6:26407900A>T	ENST00000289361.6	+	4	803	c.435A>T	c.(433-435)gcA>gcT	p.A145A	BTN3A1_ENST00000414912.2_Intron|BTN3A1_ENST00000476549.2_Splice_Site_p.A145A|BTN3A1_ENST00000425234.2_Splice_Site_p.A145A	NM_001145008.1|NM_001145009.1|NM_007048.5	NP_001138480.1|NP_001138481.1|NP_008979.3	O00481	BT3A1_HUMAN	butyrophilin, subfamily 3, member A1	145	Ig-like V-type 2.				activated T cell proliferation (GO:0050798)|cytokine secretion (GO:0050663)|interferon-gamma secretion (GO:0072643)|T cell receptor signaling pathway (GO:0050852)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.A145A(1)		breast(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28						CTTCCACAGCACTGGGTTCTG	0.473																																						ENST00000289361.6																			1	Substitution - coding silent(1)	p.A145A(1)	prostate(1)	breast(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28						c.e4-1		butyrophilin, subfamily 3, member A1							85	74	78					6																	26407900		2203	4300	6503	SO:0001630	splice_region_variant	0				lipid metabolic process	integral to membrane		g.chr6:26407900A>T	U90552	CCDS4608.1, CCDS4609.1, CCDS47388.1, CCDS47389.1	6p22.1	2014-01-14			ENSG00000026950	ENSG00000026950		"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Butyrophilins"	1138	protein-coding gene	gene with protein product		613593				9149941	Standard	NM_007048		Approved	BT3.1, BTF5, CD277, BTN3.1	uc003nhv.3	O00481	OTTHUMG00000014449	ENST00000289361.6:c.434-1A>T	6.37:g.26407900A>T						BTN3A1_ENST00000425234.2_Splice_Site_p.A145_splice|BTN3A1_ENST00000414912.2_Intron|BTN3A1_ENST00000476549.2_Splice_Site_p.A145_splice	p.A145_splice	NM_001145008.1|NM_001145009.1|NM_007048.5	NP_001138480.1|NP_001138481.1|NP_008979.3	O00481	BT3A1_HUMAN			4	803	+			145			Ig-like V-type 2.		A2A278|A8K2C8|B4DIQ1|B4DRM2|E9PGB4|E9PHG8|Q0P515|Q147X5|Q53F15|Q99420|Q9HCY1	Splice_Site	SNP	ENST00000289361.6	37	c.433_splice	CCDS4608.1																																																																																				0.473	BTN3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040112.3		Silent	4	111	0	0	0	0.150653	0	4	111					T	26407900	A	T	26407900	5	4	12	1	0	0	0	0	0	0	1	0	1562	173	6	5	445	5	BTN3A1	6	26407900	Splice_Site	SNP	A	TCGA-CH-5737-01A-11D-1576-08	155764	26407900	144707167	40	432											
PPP2R5D	5528	broad.mit.edu	37	chr6	42975223	42975223	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aacatagccaagaagtacatCgaccagaagtttgtacttgc	15	9	8	9	1	0	2	0	0	0	2	1	3	0	2	2	0	5	3	2	0	7	5			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr6:42975223C>T	ENST00000485511.1	+	6	884	c.705C>T	c.(703-705)atC>atT	p.I235I	PPP2R5D_ENST00000472118.1_Silent_p.I227I|PPP2R5D_ENST00000461010.1_Silent_p.I129I|PPP2R5D_ENST00000394110.3_Silent_p.I203I	NM_001270476.1|NM_006245.3	NP_001257405.1|NP_006236.1	Q14738	2A5D_HUMAN	protein phosphatase 2, regulatory subunit B', delta	235					carbohydrate metabolic process (GO:0005975)|dephosphorylation (GO:0016311)|energy reserve metabolic process (GO:0006112)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of catalytic activity (GO:0050790)|small molecule metabolic process (GO:0044281)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein phosphatase type 2A complex (GO:0000159)	protein phosphatase type 2A regulator activity (GO:0008601)|protein serine/threonine phosphatase activity (GO:0004722)	p.I235I(1)		NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	25			Colorectal(64;0.00237)|all cancers(41;0.00411)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0664)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			AGAAGTACATCGACCAGAAGT	0.512																																					Melanoma(63;587 1613 29742 31770)	ENST00000485511.1																			1	Substitution - coding silent(1)	p.I235I(1)	prostate(1)	NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	25						c.(703-705)atC>atT		protein phosphatase 2, regulatory subunit B', delta							238	221	227					6																	42975223		2203	4300	6503	SO:0001819	synonymous_variant	5528				nervous system development|signal transduction	cytoplasm|nucleus|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity	g.chr6:42975223C>T	L76702	CCDS4878.1, CCDS43464.1, CCDS55002.1	6p21.1	2010-06-18	2010-04-14		ENSG00000112640	ENSG00000112640		"Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"	9312	protein-coding gene	gene with protein product		601646	"protein phosphatase 2, regulatory subunit B (B56), delta isoform", "protein phosphatase 2, regulatory subunit B', delta isoform"			7592815	Standard	NM_006245		Approved	B56D	uc003oth.4	Q14738	OTTHUMG00000014716	ENST00000485511.1:c.705C>T	6.37:g.42975223C>T						PPP2R5D_ENST00000461010.1_Silent_p.I129I|PPP2R5D_ENST00000394110.3_Silent_p.I203I|PPP2R5D_ENST00000472118.1_Silent_p.I227I	p.I235I	NM_001270476.1|NM_006245.3	NP_001257405.1|NP_006236.1	Q14738	2A5D_HUMAN	Colorectal(64;0.00237)|all cancers(41;0.00411)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0664)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)		6	884	+			235					A8K3I9|B5BUA6|O00494|O00696|Q15171|Q5TC39	Silent	SNP	ENST00000485511.1	37	c.705C>T	CCDS4878.1	.	.	.	.	.	.	.	.	.	.	C	9.993	1.231333	0.22626	.	.	ENSG00000112640	ENST00000470467	.	.	.	5.84	-0.473	0.12112	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-13.1097	6.408	0.21676	0.0:0.3523:0.1289:0.5187	.	.	.	.	X	155	.	.	R	+	1	2	PPP2R5D	43083201	0.304000	0.24472	0.997000	0.53966	0.993000	0.82548	-0.301000	0.08232	-0.079000	0.12707	-0.302000	0.09304	CGA		0.512	PPP2R5D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040573.3	NM_006245		16	224	0	0	0	0.043863	0	16	224					T	42975223	C	T	42975223	2	4	12	1	0	0	0	0	0	0	0	1	12395	874	31	2		2	PPP2R5D	6	42975223	Silent	SNP	C	TCGA-CH-5737-01A-11D-1576-08	16567323	42975223	128139844	41	433											
ROS1	6098	broad.mit.edu	37	chr6	117663708	117663708	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gctatactgtcctgaaattcCtgtaattgattttttaaaaa	13	17	5	6	0	0	2	0	2	0	0	2	2	2	2	2	0	1	2	2	0	7	8			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr6:117663708C>A	ENST00000368508.3	-	28	4723		c.e28-1		GOPC_ENST00000467125.1_Intron|ROS1_ENST00000368507.3_Splice_Site	NM_002944.2	NP_002935.2	P08922	ROS1_HUMAN	ROS proto-oncogene 1 , receptor tyrosine kinase						cell differentiation (GO:0030154)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|columnar/cuboidal epithelial cell development (GO:0002066)|negative regulation of gene expression (GO:0010629)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein phosphorylation (GO:0006468)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of phosphate transport (GO:0010966)|regulation of TOR signaling (GO:0032006)|spermatogenesis (GO:0007283)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.?(3)	TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		CCTGAAATTCCTGTAATTGAT	0.254			T	"GOPC, SDC4, SLC34A2, EZR, LRIG3"	"glioblastoma, NSCLC"																																	ENST00000368508.3				Dom	yes		6	6q22	6098	T	v-ros UR2 sarcoma virus oncogene homolog 1 (avian)			"O, E"	"GOPC, SDC4, SLC34A2, EZR, LRIG3"		"glioblastoma, NSCLC"	TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	3	Unknown(3)	p.?(3)	prostate(3)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162						c.e28-1		c-ros oncogene 1 , receptor tyrosine kinase							46	48	47					6																	117663708		2200	4291	6491	SO:0001630	splice_region_variant	6098				transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr6:117663708C>A	M13599	CCDS5116.1	6q21-q22	2014-06-26	2014-06-26		ENSG00000047936	ENSG00000047936		"Fibronectin type III domain containing"	10261	protein-coding gene	gene with protein product		165020	"v-ros avian UR2 sarcoma virus oncogene homolog 1", "v-ros UR2 sarcoma virus oncogene homolog 1 (avian)", "c-ros oncogene 1 , receptor tyrosine kinase"			1611909	Standard	NM_002944		Approved	MCF3, ROS, c-ros-1	uc003pxp.1	P08922	OTTHUMG00000016188	ENST00000368508.3:c.4525-1G>T	6.37:g.117663708C>A						GOPC_ENST00000467125.1_Intron|ROS1_ENST00000368507.3_Splice_Site		NM_002944.2	NP_002935.2	P08922	ROS_HUMAN		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)	28	4723	-		all_cancers(87;0.00846)|all_epithelial(87;0.0242)						Q15368|Q5TDB5	Splice_Site	SNP	ENST00000368508.3	37		CCDS5116.1	.	.	.	.	.	.	.	.	.	.	C	13.98	2.398645	0.42512	.	.	ENSG00000047936	ENST00000368508;ENST00000368507	.	.	.	5.32	5.32	0.75619	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.8443	0.70249	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ROS1	117770401	1.000000	0.71417	1.000000	0.80357	0.489000	0.33432	4.893000	0.63199	2.655000	0.90218	0.561000	0.74099	.		0.254	ROS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043464.1		Intron	14	46	1	0	4.3838e-07	0.105934	5.0469e-07	14	46					A	117663708	C	A	117663708	5	1	12	1	0	0	0	0	0	0	1	0	13531	695	24	5	2583	5	ROS1	6	117663708	Splice_Site	SNP	C	TCGA-CH-5737-01A-11D-1576-08	74688485	117663708	53451359	42	434											
ABCB5	340273	broad.mit.edu	37	chr7	20685387	20685387	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggtttattacagatggtcatCtcattgaccagtaaggaatt	12	14	9	6	0	2	2	2	1	1	1	3	3	2	3	1	3	1	2	1	3	4	6			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr7:20685387C>T	ENST00000404938.2	+	8	1339	c.687C>T	c.(685-687)atC>atT	p.I229I	ABCB5_ENST00000406935.1_5'Flank|ABCB5_ENST00000258738.6_5'Flank|ABCB5_ENST00000443026.2_5'Flank	NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 5	229	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-dependent (GO:0002485)|antigen processing and presentation of endogenous peptide antigen via MHC class Ib via ER pathway, TAP-dependent (GO:0002489)|antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent (GO:0002481)|cell differentiation (GO:0030154)|compound eye corneal lens development (GO:0048058)|positive regulation of antigen processing and presentation of peptide antigen via MHC class I (GO:0002591)|regulation of membrane potential (GO:0042391)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|efflux transmembrane transporter activity (GO:0015562)			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						AGATGGTCATCTCATTGACCA	0.403																																						ENST00000404938.2																			0				breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						c.(685-687)atC>atT		ATP-binding cassette, sub-family B (MDR/TAP), member 5							124	113	116					7																	20685387		1568	3582	5150	SO:0001819	synonymous_variant	340273				regulation of membrane potential	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus	ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity	g.chr7:20685387C>T	U66692	CCDS5371.1, CCDS55090.1, CCDS55091.1, CCDS55092.1	7p14	2012-03-14			ENSG00000004846	ENSG00000004846		"ATP binding cassette transporters / subfamily B"	46	protein-coding gene	gene with protein product	"P-glycoprotein ABCB5", "ATP-binding cassette protein"	611785				8894702, 12960149	Standard	NM_001163942		Approved	EST422562, ABCB5beta, ABCB5alpha	uc010kuh.3	Q2M3G0	OTTHUMG00000094789	ENST00000404938.2:c.687C>T	7.37:g.20685387C>T							p.I229I	NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN			8	1339	+			415					A4D131|A7BKA4|B5MD19|B7WPL1|F8QQP8|F8QQP9|J3KQ04|Q2M3I5|Q5I5Q7|Q5I5Q8|Q6KG50|Q6XFQ5|Q8IXA1	Silent	SNP	ENST00000404938.2	37	c.687C>T	CCDS55090.1																																																																																				0.403	ABCB5-004	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000326736.2	NM_178559		4	231	0	0	0	0.014758	0	4	231					T	20685387	C	T	20685387	2	4	12	1	0	0	0	0	0	0	0	1	44	903	32	3		3	ABCB5	7	20685387	Silent	SNP	C	TCGA-CH-5737-01A-11D-1576-08		20685387	138453276	43	435											
SUMF2	25870	broad.mit.edu	37	chr7	56142370	56142370	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccgtgcctactgtgcttggcGgggaaaacgactgcccacgg	7	7	14	13	4	0	0	0	0	0	0	0	2	0	1	3	4	5	1	3	4	3	2			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr7:56142370G>A	ENST00000413756.1	+	5	499	c.476G>A	c.(475-477)cGg>cAg	p.R159Q	SUMF2_ENST00000437307.2_Intron|SUMF2_ENST00000395435.2_Intron|SUMF2_ENST00000395436.2_Missense_Mutation_p.R163Q|SUMF2_ENST00000275607.9_Missense_Mutation_p.R71Q|SUMF2_ENST00000434526.2_Missense_Mutation_p.R178Q|SUMF2_ENST00000342190.6_Missense_Mutation_p.R178Q			Q8NBJ7	SUMF2_HUMAN	sulfatase modifying factor 2	159					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)	endoplasmic reticulum lumen (GO:0005788)	metal ion binding (GO:0046872)	p.R159L(1)|p.R178L(1)		breast(2)|endometrium(2)|large_intestine(1)|lung(6)|ovary(2)|skin(1)	14	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			TGTGCTTGGCGGGGAAAACGA	0.587											OREG0018081	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000434526.2																			2	Substitution - Missense(2)	p.R159L(1)|p.R178L(1)	lung(2)	breast(2)|endometrium(2)|large_intestine(1)|lung(6)|ovary(2)|skin(1)	14						c.(532-534)cGg>cAg		sulfatase modifying factor 2							95	96	96					7																	56142370		2203	4300	6503	SO:0001583	missense	25870					endoplasmic reticulum lumen	metal ion binding	g.chr7:56142370G>A	AK075477	CCDS5524.2, CCDS43588.2, CCDS43589.2, CCDS47589.1, CCDS55111.1	7q11.1	2004-04-30			ENSG00000129103	ENSG00000129103			20415	protein-coding gene	gene with protein product		607940				12757706	Standard	NM_015411		Approved	DKFZp566I1024	uc003trv.3	Q8NBJ7	OTTHUMG00000129373	ENST00000413756.1:c.476G>A	7.37:g.56142370G>A	ENSP00000406445:p.Arg159Gln		OREG0018081	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1013	SUMF2_ENST00000342190.6_Missense_Mutation_p.R178Q|SUMF2_ENST00000437307.2_Intron|SUMF2_ENST00000413756.1_Missense_Mutation_p.R159Q|SUMF2_ENST00000275607.9_Missense_Mutation_p.R71Q|SUMF2_ENST00000395436.2_Missense_Mutation_p.R163Q|SUMF2_ENST00000395435.2_Intron	p.R178Q	NM_001042469.1|NM_015411.2	NP_001035934.2|NP_056226.2	Q8NBJ7	SUMF2_HUMAN	Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)		5	564	+	Breast(14;0.214)		159					B4DU41|B4DWQ0|Q14DW5|Q53ZE3|Q96BH2|Q9BRN3|Q9BWI1|Q9Y405	Missense_Mutation	SNP	ENST00000413756.1	37	c.533G>A		.	.	.	.	.	.	.	.	.	.	G	16.50	3.140926	0.56936	.	.	ENSG00000129103	ENST00000395436;ENST00000434526;ENST00000275607;ENST00000413952;ENST00000342190;ENST00000413756;ENST00000451338	T;T;T;T;T;T;T	0.43688	0.94;0.94;0.94;0.94;0.94;0.94;0.94	5.39	2.44	0.29823	C-type lectin fold (1);Formylglycine-generating sulphatase enzyme domain (2);	0.378761	0.29113	N	0.013113	T	0.28234	0.0697	L	0.48935	1.535	0.30202	N	0.798556	B;B;B	0.30741	0.293;0.225;0.241	B;B;B	0.15870	0.014;0.013;0.005	T	0.25328	-1.0135	10	0.66056	D	0.02	-25.4066	4.1729	0.10337	0.3643:0.0:0.485:0.1507	.	163;159;178	A8MXB9;Q8NBJ7;F8WA42	.;SUMF2_HUMAN;.	Q	163;178;71;181;178;159;176	ENSP00000378824:R163Q;ENSP00000400922:R178Q;ENSP00000275607:R71Q;ENSP00000414434:R181Q;ENSP00000341938:R178Q;ENSP00000406445:R159Q;ENSP00000410796:R176Q	ENSP00000275607:R71Q	R	+	2	0	SUMF2	56109864	0.992000	0.36948	0.995000	0.50966	0.962000	0.63368	1.069000	0.30641	0.278000	0.22164	0.591000	0.81541	CGG		0.587	SUMF2-013	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000341457.2	NM_015411		5	226	0	0	0	0.014758	0	5	226					A	56142370	G	A	56142370	3	1	12	1	0	0	0	0	1	0	0	0	15383	1116	39	2	551	2	SUMF2	7	56142370	Missense_Mutation	SNP	G	TCGA-CH-5737-01A-11D-1576-08	35456983	56142370	102996293	44	436											
SEMA3D	223117	broad.mit.edu	37	chr7	84694822	84694822	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agggatcgagtgaatgcagtAtctttgccaaggaaatcaga	14	9	12	6	1	2	2	1	1	1	1	3	5	2	4	1	2	2	2	1	2	4	2			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr7:84694822A>G	ENST00000284136.6	-	6	679	c.636T>C	c.(634-636)gaT>gaC	p.D212D	SEMA3D_ENST00000444867.1_Silent_p.D212D	NM_152754.2	NP_689967.2	O95025	SEM3D_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3D	212	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|membrane (GO:0016020)	receptor activity (GO:0004872)	p.D212D(1)		NS(1)|breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(19)|lung(29)|ovary(3)|pancreas(1)|prostate(4)|skin(2)	73						TGAATGCAGTATCTTTGCCAA	0.423																																					Ovarian(63;442 1191 17318 29975 31528)	ENST00000284136.6																			1	Substitution - coding silent(1)	p.D212D(1)	prostate(1)	NS(1)|breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(19)|lung(29)|ovary(3)|pancreas(1)|prostate(4)|skin(2)	73						c.(634-636)gaT>gaC		sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3D							133	117	122					7																	84694822		2203	4300	6503	SO:0001819	synonymous_variant	223117				cell differentiation|nervous system development	extracellular region|membrane	receptor activity	g.chr7:84694822A>G	BC029590	CCDS34676.1	7q21.11	2013-01-11			ENSG00000153993	ENSG00000153993		"Semaphorins", "Immunoglobulin superfamily / V-set domain containing"	10726	protein-coding gene	gene with protein product		609907					Standard	NM_152754		Approved	coll-2, Sema-Z2	uc003uic.3	O95025	OTTHUMG00000154569	ENST00000284136.6:c.636T>C	7.37:g.84694822A>G						SEMA3D_ENST00000444867.1_Silent_p.D212D	p.D212D	NM_152754.2	NP_689967.2	O95025	SEM3D_HUMAN			6	679	-			212			Sema.		A6NK46|Q6UW77|Q8NCQ1	Silent	SNP	ENST00000284136.6	37	c.636T>C	CCDS34676.1																																																																																				0.423	SEMA3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336084.2	NM_152754		6	95	0	0	0	0.021553	0	6	95					G	84694822	A	G	84694822	2	3	12	1	0	0	0	0	0	0	0	1	14027	446	16	4		4	SEMA3D	7	84694822	Silent	SNP	A	TCGA-CH-5737-01A-11D-1576-08	28552452	84694822	74443841	45	437											
PON2	5445	broad.mit.edu	37	chr7	95053856	95053856	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	taatcaggtggcagtgtggaAggtctacagattctacttct	10	13	11	7	0	4	1	1	0	3	1	4	2	4	2	0	4	2	1	0	4	4	5			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr7:95053856A>G	ENST00000222572.3	-	2	362	c.116T>C	c.(115-117)cTt>cCt	p.L39P	PON2_ENST00000536183.1_Missense_Mutation_p.L60P|PON2_ENST00000433091.2_Missense_Mutation_p.L39P			Q15165	PON2_HUMAN	paraoxonase 2	39					aromatic compound catabolic process (GO:0019439)|response to oxidative stress (GO:0006979)	extracellular region (GO:0005576)|lysosome (GO:0005764)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	arylesterase activity (GO:0004064)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)	p.L39P(1)		breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)|prostate(1)	9	all_cancers(62;9.35e-11)|all_epithelial(64;3.37e-09)		STAD - Stomach adenocarcinoma(171;0.0151)			GCAGTGTGGAAGGTCTACAGA	0.333																																					GBM(42;803 823 13649 23368 31463)	ENST00000536183.1																			1	Substitution - Missense(1)	p.L39P(1)	prostate(1)	breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)|prostate(1)	9						c.(178-180)cTt>cCt		paraoxonase 2							132	124	127					7																	95053856		2203	4300	6503	SO:0001583	missense	5445				aromatic compound catabolic process	extracellular region|plasma membrane	arylesterase activity|identical protein binding|metal ion binding	g.chr7:95053856A>G	M63012, AF001601	CCDS5640.1, CCDS47644.1	7q21.3	2014-03-14			ENSG00000105854	ENSG00000105854	3.1.1.2	"Paraoxonases"	9205	protein-coding gene	gene with protein product	"paraoxonase nirs", "arylesterase 2"	602447				8661009, 9714608	Standard	XM_005250453		Approved		uc003unv.3	Q15165	OTTHUMG00000153948	ENST00000222572.3:c.116T>C	7.37:g.95053856A>G	ENSP00000222572:p.Leu39Pro					PON2_ENST00000222572.3_Missense_Mutation_p.L39P|PON2_ENST00000433091.2_Missense_Mutation_p.L39P	p.L60P	NM_000305.2	NP_000296.2	Q15165	PON2_HUMAN	STAD - Stomach adenocarcinoma(171;0.0151)		2	362	-	all_cancers(62;9.35e-11)|all_epithelial(64;3.37e-09)		39					A4D1H7|B2RCP9|B4DJD5|O15114|O15115|O75856|Q5FBX7|Q86YL0	Missense_Mutation	SNP	ENST00000222572.3	37	c.179T>C	CCDS5640.1	.	.	.	.	.	.	.	.	.	.	A	10.59	1.392271	0.25118	.	.	ENSG00000105854	ENST00000536183;ENST00000355659;ENST00000433091;ENST00000222572	T;T;T	0.42513	0.97;0.97;0.97	4.63	4.63	0.57726	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.85682	D	0.000000	T	0.22627	0.0546	N	0.05467	-0.045	0.80722	D	1	B;B	0.29671	0.254;0.254	B;B	0.30855	0.121;0.121	T	0.09862	-1.0655	10	0.25106	T	0.35	-9.1417	10.6205	0.45476	1.0:0.0:0.0:0.0	.	39;39	A4D1H7;Q15165	.;PON2_HUMAN	P	60;37;39;39	ENSP00000440282:L60P;ENSP00000404622:L39P;ENSP00000222572:L39P	ENSP00000222572:L39P	L	-	2	0	PON2	94891792	1.000000	0.71417	1.000000	0.80357	0.708000	0.40852	4.499000	0.60380	2.075000	0.62263	0.377000	0.23210	CTT		0.333	PON2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333142.1	NM_000305		16	183	0	0	0	0.160694	0	16	183					G	95053856	A	G	95053856	3	3	12	1	0	0	0	0	1	0	0	0	12249	72	3	4	980	4	PON2	7	95053856	Missense_Mutation	SNP	A	TCGA-CH-5737-01A-11D-1576-08	10359034	95053856	64084807	46	438											
TAS2R16	50833	broad.mit.edu	37	chr7	122635274	122635274	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agctgaagggatgattgttaCacaagtaatcatcagagaac	16	9	10	6	0	2	3	2	2	0	1	2	5	2	4	0	1	3	3	0	1	5	3			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr7:122635274C>A	ENST00000249284.2	-	1	480	c.415G>T	c.(415-417)Gta>Tta	p.V139L		NM_016945.2	NP_058641.1	Q9NYV7	T2R16_HUMAN	taste receptor, type 2, member 16	139					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|G-protein coupled receptor signaling pathway (GO:0007186)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	bitter taste receptor activity (GO:0033038)	p.V139L(1)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						ATGATTGTTACACAAGTAATC	0.403																																						ENST00000249284.2																			1	Substitution - Missense(1)	p.V139L(1)	lung(1)	breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						c.(415-417)Gta>Tta		taste receptor, type 2, member 16							129	124	126					7																	122635274		2203	4300	6503	SO:0001583	missense	50833				detection of chemical stimulus involved in sensory perception of bitter taste	endoplasmic reticulum|external side of plasma membrane|trans-Golgi network	bitter taste receptor activity|protein binding	g.chr7:122635274C>A	AF227139	CCDS5785.1	7q31.1-q31.3	2012-08-22			ENSG00000128519	ENSG00000128519		"Taste receptors / Type 2", "GPCR / Unclassified : Taste receptors"	14921	protein-coding gene	gene with protein product		604867				10761934	Standard	NM_016945		Approved	T2R16	uc003vkl.1	Q9NYV7	OTTHUMG00000157090	ENST00000249284.2:c.415G>T	7.37:g.122635274C>A	ENSP00000249284:p.Val139Leu						p.V139L	NM_016945.2	NP_058641.1	Q9NYV7	T2R16_HUMAN			1	480	-			139					A4D0X2|Q502V3|Q549U8|Q645W1	Missense_Mutation	SNP	ENST00000249284.2	37	c.415G>T	CCDS5785.1	.	.	.	.	.	.	.	.	.	.	C	0.110	-1.139574	0.01728	.	.	ENSG00000128519	ENST00000249284	T	0.35421	1.31	4.56	0.134	0.14771	.	0.919034	0.08945	N	0.871040	T	0.19644	0.0472	N	0.20483	0.58	0.09310	N	1	B	0.21520	0.057	B	0.26094	0.066	T	0.32981	-0.9886	10	0.07030	T	0.85	.	6.7869	0.23677	0.3423:0.3458:0.3119:0.0	.	139	Q9NYV7	T2R16_HUMAN	L	139	ENSP00000249284:V139L	ENSP00000249284:V139L	V	-	1	0	TAS2R16	122422510	0.000000	0.05858	0.008000	0.14137	0.029000	0.11900	-0.197000	0.09518	0.208000	0.20626	-0.176000	0.13171	GTA		0.403	TAS2R16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347409.1	NM_016945		4	171	1	0	0.150653	0.150653	0.158766	4	171					A	122635274	C	A	122635274	3	1	12	1	0	0	0	0	1	0	0	0	15566	478	17	5	464	5	TAS2R16	7	122635274	Missense_Mutation	SNP	C	TCGA-CH-5737-01A-11D-1576-08	27581418	122635274	36503389	47	439											
PAXIP1	22976	broad.mit.edu	37	chr7	154754078	154754078	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgggaaggccactgggaagtGaagggctcggtgcggcggta	8	6	20	7	3	0	1	0	1	0	0	1	3	0	3	1	7	1	2	1	7	4	1			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr7:154754078G>A	ENST00000404141.1	-	10	2234	c.2080C>T	c.(2080-2082)Cac>Tac	p.H694Y	PAXIP1_ENST00000473219.1_5'UTR|PAXIP1_ENST00000397192.1_Missense_Mutation_p.H694Y			Q6ZW49	PAXI1_HUMAN	PAX interacting (with transcription-activation domain) protein 1	694	BRCT 3. {ECO:0000255|PROSITE- ProRule:PRU00033}.|Interaction with TP53BP1.				adipose tissue development (GO:0060612)|chorion development (GO:0060717)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|endothelial cell migration (GO:0043542)|histone H3-K4 methylation (GO:0051568)|positive regulation of histone acetylation (GO:0035066)|positive regulation of histone H3-K36 methylation (GO:0000416)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of isotype switching (GO:0045830)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)|response to ionizing radiation (GO:0010212)|transcription, DNA-templated (GO:0006351)|vasculogenesis (GO:0001570)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)		p.H660Y(1)|p.H694Y(1)		NS(1)|breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	33	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.0296)	UCEC - Uterine corpus endometrioid carcinoma (81;0.178)		ACTGGGAAGTGAAGGGCTCGG	0.468																																						ENST00000404141.1																			2	Substitution - Missense(2)	p.H660Y(1)|p.H694Y(1)	prostate(2)	NS(1)|breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	33						c.(2080-2082)Cac>Tac		PAX interacting (with transcription-activation domain) protein 1							160	166	164					7																	154754078		1941	4119	6060	SO:0001583	missense	22976				DNA damage response, signal transduction by p53 class mediator|DNA recombination|DNA repair|histone H3-K4 methylation|positive regulation of histone acetylation|positive regulation of histone H3-K36 methylation|positive regulation of histone H3-K4 methylation|positive regulation of isotype switching|positive regulation of protein ubiquitination|positive regulation of transcription initiation from RNA polymerase II promoter|response to ionizing radiation|transcription, DNA-dependent	histone methyltransferase complex|nuclear matrix		g.chr7:154754078G>A	U80735	CCDS47753.1	7q36	2007-07-06	2005-04-05	2005-04-05	ENSG00000157212	ENSG00000157212			8624	protein-coding gene	gene with protein product		608254	"PAX transcription activation domain interacting protein 1 like"	PAXIP1L		9225980	Standard	XM_005249539		Approved	CAGF29, CAGF28, TNRC2, PTIP	uc022aqf.1	Q6ZW49	OTTHUMG00000151322	ENST00000404141.1:c.2080C>T	7.37:g.154754078G>A	ENSP00000384048:p.His694Tyr					PAXIP1_ENST00000397192.1_Missense_Mutation_p.H694Y|PAXIP1_ENST00000473219.1_5'UTR	p.H694Y			Q6ZW49	PAXI1_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0296)	UCEC - Uterine corpus endometrioid carcinoma (81;0.178)	10	2234	-	all_neural(206;0.119)	all_hematologic(28;0.0592)	694			BRCT 3.|Interaction with TP53BP1.		O15404|Q6N099|Q6ZWH9|Q7Z315|Q86UN0|Q8N4P9|Q96HP2	Missense_Mutation	SNP	ENST00000404141.1	37	c.2080C>T	CCDS47753.1	.	.	.	.	.	.	.	.	.	.	G	16.75	3.210175	0.58343	.	.	ENSG00000157212	ENST00000404141;ENST00000397192;ENST00000357094;ENST00000323199	T;T	0.57907	0.37;0.37	4.91	4.91	0.64330	BRCT (2);	0.000000	0.56097	U	0.000022	T	0.73961	0.3654	M	0.79123	2.44	0.58432	D	0.999999	D;D;D	0.76494	0.999;0.998;0.997	D;D;D	0.81914	0.995;0.994;0.986	T	0.77440	-0.2587	10	0.62326	D	0.03	-41.5024	18.4584	0.90729	0.0:0.0:1.0:0.0	.	647;660;694	B4DEQ6;Q6ZW49-1;Q6ZW49	.;.;PAXI1_HUMAN	Y	694;694;518;647	ENSP00000384048:H694Y;ENSP00000380376:H694Y	ENSP00000319149:H647Y	H	-	1	0	PAXIP1	154385011	1.000000	0.71417	0.535000	0.28026	0.492000	0.33523	9.049000	0.93837	2.426000	0.82243	0.467000	0.42956	CAC		0.468	PAXIP1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322223.1	NM_007349		5	163	0	0	0	0.021553	0	5	163					A	154754078	G	A	154754078	3	1	12	1	0	0	0	0	1	0	0	0	11487	1290	45	3	1177	3	PAXIP1	7	154754078	Missense_Mutation	SNP	G	TCGA-CH-5737-01A-11D-1576-08	32118804	154754078	4384585	48	440											
CCDC25	55246	broad.mit.edu	37	chr8	27605731	27605731	+	Silent	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	gctaggtctgggaaccgctcGactttggtcttttctaatcg	6	14	11	10	3	3	0	0	0	3	0	5	2	3	1	1	3	1	2	1	3	3	5			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr8:27605731G>C	ENST00000356537.4	-	7	507	c.414C>G	c.(412-414)gtC>gtG	p.V138V	RP11-16P20.3_ENST00000521510.1_RNA|CCDC25_ENST00000522915.1_Silent_p.V70V|CCDC25_ENST00000539095.1_Silent_p.V70V	NM_018246.2	NP_060716.2	Q86WR0	CCD25_HUMAN	coiled-coil domain containing 25	138						extracellular vesicular exosome (GO:0070062)		p.V138V(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)	7		Ovarian(32;0.000953)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0223)|KIRC - Kidney renal clear cell carcinoma(542;0.11)|Kidney(114;0.131)|Colorectal(74;0.154)		GGAACCGCTCGACTTTGGTCT	0.393																																						ENST00000356537.4																			1	Substitution - coding silent(1)	p.V138V(1)	prostate(1)	endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)	7						c.(412-414)gtC>gtG		coiled-coil domain containing 25							124	120	121					8																	27605731		2203	4300	6503	SO:0001819	synonymous_variant	55246							g.chr8:27605731G>C	AK001715	CCDS6062.2	8p21.1	2006-09-20			ENSG00000147419	ENSG00000147419			25591	protein-coding gene	gene with protein product						12477932	Standard	NM_018246		Approved	FLJ10853	uc003xgc.3	Q86WR0	OTTHUMG00000132173	ENST00000356537.4:c.414C>G	8.37:g.27605731G>C						CCDC25_ENST00000522915.1_Silent_p.V70V|CCDC25_ENST00000539095.1_Silent_p.V70V|RP11-16P20.3_ENST00000521510.1_RNA	p.V138V	NM_018246.2	NP_060716.2	Q86WR0	CCD25_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0223)|KIRC - Kidney renal clear cell carcinoma(542;0.11)|Kidney(114;0.131)|Colorectal(74;0.154)	7	507	-		Ovarian(32;0.000953)	138					Q0P663|Q96SI2|Q9NV98	Silent	SNP	ENST00000356537.4	37	c.414C>G	CCDS6062.2																																																																																				0.393	CCDC25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255224.1	NM_018246		39	175	0	0	0	0.09836	0	39	175					C	27605731	G	C	27605731	2	2	12	1	0	0	0	0	0	0	0	1	2800	1045	37	5		5	CCDC25	8	27605731	Silent	SNP	G	TCGA-CH-5737-01A-11D-1576-08		27605731	118758291	49	441											
MPDZ	8777	broad.mit.edu	37	chr9	13224386	13224386	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttcttacctgggccatatttTtgataagctgatcaaattca	11	16	6	8	0	3	2	2	2	1	0	3	2	3	2	2	1	2	1	2	1	4	7			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr9:13224386T>G	ENST00000319217.7	-	4	627	c.380A>C	c.(379-381)aAa>aCa	p.K127T	MPDZ_ENST00000546205.1_Missense_Mutation_p.K127T|MPDZ_ENST00000536827.1_Missense_Mutation_p.K127T|MPDZ_ENST00000541718.1_Missense_Mutation_p.K127T|MPDZ_ENST00000381015.4_Missense_Mutation_p.K127T|MPDZ_ENST00000447879.1_Missense_Mutation_p.K127T|MPDZ_ENST00000381022.2_Missense_Mutation_p.K127T	NM_001261406.1	NP_001248335.1	O75970	MPDZ_HUMAN	multiple PDZ domain protein	127					cell adhesion (GO:0007155)|myelination (GO:0042552)|viral process (GO:0016032)	apical plasma membrane (GO:0016324)|apicolateral plasma membrane (GO:0016327)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|neuron projection (GO:0043005)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)|tight junction (GO:0005923)	protein C-terminus binding (GO:0008022)	p.K127T(2)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(15)|ovary(5)|prostate(7)|stomach(1)|urinary_tract(2)	61				GBM - Glioblastoma multiforme(50;2.03e-06)		GGCCATATTTTTGATAAGCTG	0.338																																						ENST00000319217.7																			2	Substitution - Missense(2)	p.K127T(2)	prostate(2)	NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(15)|ovary(5)|prostate(7)|stomach(1)|urinary_tract(2)	61						c.(379-381)aAa>aCa		multiple PDZ domain protein							109	104	105					9																	13224386		1823	4080	5903	SO:0001583	missense	8777				interspecies interaction between organisms	apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	protein C-terminus binding	g.chr9:13224386T>G	AF093419	CCDS47951.1, CCDS59119.1, CCDS59120.1	9p23	2008-05-15			ENSG00000107186	ENSG00000107186			7208	protein-coding gene	gene with protein product		603785					Standard	NM_003829		Approved	MUPP1	uc003zlb.4	O75970	OTTHUMG00000021031	ENST00000319217.7:c.380A>C	9.37:g.13224386T>G	ENSP00000320006:p.Lys127Thr					MPDZ_ENST00000536827.1_Missense_Mutation_p.K127T|MPDZ_ENST00000447879.1_Missense_Mutation_p.K127T|MPDZ_ENST00000381022.2_Missense_Mutation_p.K127T|MPDZ_ENST00000546205.1_Missense_Mutation_p.K127T|MPDZ_ENST00000381015.4_Missense_Mutation_p.K127T|MPDZ_ENST00000541718.1_Missense_Mutation_p.K127T	p.K127T	NM_001261406.1	NP_001248335.1	O75970	MPDZ_HUMAN		GBM - Glioblastoma multiforme(50;2.03e-06)	4	627	-			127					A6NLC2|B2RTS3|B7ZMI4|O43798|Q4LE30|Q5CZ80|Q5JTX3|Q5JTX6|Q5JTX7|Q5JUC3|Q5JUC4|Q5VZ62|Q8N790	Missense_Mutation	SNP	ENST00000319217.7	37	c.380A>C		.	.	.	.	.	.	.	.	.	.	T	17.40	3.380536	0.61845	.	.	ENSG00000107186	ENST00000319217;ENST00000541718;ENST00000381022;ENST00000536827;ENST00000447879;ENST00000381015;ENST00000399902;ENST00000546205	T;T;T;T;T;T;T	0.11495	2.83;2.78;2.78;2.77;2.81;2.83;2.83	5.72	0.495	0.16890	.	0.128902	0.35235	N	0.003348	T	0.08537	0.0212	N	0.24115	0.695	0.80722	D	1	P;P;P	0.49635	0.926;0.909;0.909	P;P;P	0.49528	0.495;0.614;0.614	T	0.36962	-0.9726	10	0.31617	T	0.26	.	5.5697	0.17190	0.0:0.224:0.2515:0.5246	.	127;127;127	B7ZMI4;O75970-3;O75970-2	.;.;.	T	127	ENSP00000320006:K127T;ENSP00000439807:K127T;ENSP00000370410:K127T;ENSP00000444151:K127T;ENSP00000415208:K127T;ENSP00000370403:K127T;ENSP00000446358:K127T	ENSP00000320006:K127T	K	-	2	0	MPDZ	13214386	1.000000	0.71417	0.999000	0.59377	0.992000	0.81027	1.311000	0.33562	0.083000	0.17047	0.533000	0.62120	AAA		0.338	MPDZ-001	KNOWN	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000055485.2	NM_003829		53	207	0	0	0	0.139131	0	53	207					G	13224386	T	G	13224386	3	3	12	1	0	0	0	0	1	0	0	0	9722	1841	64	5	5917	5	MPDZ	9	13224386	Missense_Mutation	SNP	T	TCGA-CH-5737-01A-11D-1576-08		13224386	127989045	50	442											
TAF1L	138474	broad.mit.edu	37	chr9	32632973	32632973	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccctgtgcgtttgaagtcagCgcagagctttagcctcttcc	6	12	10	13	2	2	2	1	1	1	1	3	2	3	2	3	0	4	3	3	0	2	4			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr9:32632973C>T	ENST00000242310.4	-	1	2694	c.2605G>A	c.(2605-2607)Gct>Act	p.A869T	RP11-555J4.4_ENST00000430787.1_RNA	NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	869					DNA-templated transcription, initiation (GO:0006352)|histone acetylation (GO:0016573)|male meiosis (GO:0007140)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	transcription factor TFIID complex (GO:0005669)	DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine-acetylated histone binding (GO:0070577)|protein serine/threonine kinase activity (GO:0004674)|TBP-class protein binding (GO:0017025)	p.A869T(1)		breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		TTGAAGTCAGCGCAGAGCTTT	0.463																																						ENST00000242310.4																			1	Substitution - Missense(1)	p.A869T(1)	prostate(1)	breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159						c.(2605-2607)Gct>Act		TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like							137	139	138					9																	32632973		2203	4300	6503	SO:0001583	missense	138474				male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding	g.chr9:32632973C>T	AF390562	CCDS35003.1	9p12	2007-07-27	2007-07-27		ENSG00000122728	ENSG00000122728			18056	protein-coding gene	gene with protein product		607798	"TAF1-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa"			12217962	Standard	NM_153809		Approved		uc003zrg.1	Q8IZX4	OTTHUMG00000019747	ENST00000242310.4:c.2605G>A	9.37:g.32632973C>T	ENSP00000418379:p.Ala869Thr						p.A869T	NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)	1	2694	-			869					Q0VG57	Missense_Mutation	SNP	ENST00000242310.4	37	c.2605G>A	CCDS35003.1	.	.	.	.	.	.	.	.	.	.	C	15.96	2.987904	0.53934	.	.	ENSG00000122728	ENST00000242310	T	0.15487	2.42	1.19	1.19	0.21007	Transcription initiation factor TFIID subunit 1, domain of unknown function (1);	0.000000	0.85682	D	0.000000	T	0.38799	0.1054	M	0.82630	2.6	0.53005	D	0.999969	D	0.89917	1.0	D	0.83275	0.996	T	0.22521	-1.0214	10	0.72032	D	0.01	.	7.8312	0.29344	0.0:1.0:0.0:0.0	.	869	Q8IZX4	TAF1L_HUMAN	T	869	ENSP00000418379:A869T	ENSP00000418379:A869T	A	-	1	0	TAF1L	32622973	1.000000	0.71417	0.991000	0.47740	0.694000	0.40290	4.928000	0.63447	0.632000	0.30432	0.195000	0.17529	GCT		0.463	TAF1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052012.2			11	307	0	0	0	0.080935	0	11	307					T	32632973	C	T	32632973	3	4	12	1	0	0	0	0	1	0	0	0	15520	768	27	1	2879	1	TAF1L	9	32632973	Missense_Mutation	SNP	C	TCGA-CH-5737-01A-11D-1576-08	19408587	32632973	108580458	51	443											
MSMP	692094	broad.mit.edu	37	chr9	35753744	35753744	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	actcacccagggtaaaatatTtcccctcatagtgacagggg	12	9	9	11	0	2	1	2	1	0	0	3	1	3	1	3	3	0	1	3	3	4	4			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr9:35753744T>G	ENST00000436428.2	-	2	291	c.152A>C	c.(151-153)aAa>aCa	p.K51T	RP11-112J3.15_ENST00000425499.2_RNA|RGP1_ENST00000378078.4_3'UTR|MSMP_ENST00000414286.1_5'UTR	NM_001044264.2	NP_001037729.1	Q1L6U9	MSMP_HUMAN	microseminoprotein, prostate associated	51						cytoplasm (GO:0005737)|extracellular space (GO:0005615)		p.K51T(1)		endometrium(2)|kidney(1)|lung(3)|prostate(3)	9						GGTAAAATATTTCCCCTCATA	0.537																																						ENST00000436428.2																			1	Substitution - Missense(1)	p.K51T(1)	prostate(1)	endometrium(2)|kidney(1)|lung(3)|prostate(3)	9						c.(151-153)aAa>aCa		microseminoprotein, prostate associated							37	38	38					9																	35753744		2015	4182	6197	SO:0001583	missense	692094					extracellular region		g.chr9:35753744T>G	DQ012170	CCDS43797.1	9p13.3	2012-10-02			ENSG00000215183	ENSG00000215183			29663	protein-coding gene	gene with protein product		612191				17338636	Standard	NM_001044264		Approved	PC-3, PSMP	uc003zyb.2	Q1L6U9	OTTHUMG00000019882	ENST00000436428.2:c.152A>C	9.37:g.35753744T>G	ENSP00000419194:p.Lys51Thr					MSMP_ENST00000414286.1_5'UTR|RGP1_ENST00000378078.4_3'UTR	p.K51T	NM_001044264.2	NP_001037729.1	Q1L6U9	MSMP_HUMAN			2	291	-			51						Missense_Mutation	SNP	ENST00000436428.2	37	c.152A>C	CCDS43797.1	.	.	.	.	.	.	.	.	.	.	T	12.53	1.966677	0.34659	.	.	ENSG00000215183	ENST00000436428	T	0.07800	3.16	5.5	5.5	0.81552	.	0.183426	0.21116	U	0.079892	T	0.16128	0.0388	N	0.19112	0.55	0.39544	D	0.968866	D	0.89917	1.0	D	0.77557	0.99	T	0.10636	-1.0621	10	0.44086	T	0.13	-17.6375	14.1763	0.65544	0.0:0.0:0.0:1.0	.	51	Q1L6U9	MSMP_HUMAN	T	51	ENSP00000419194:K51T	ENSP00000419194:K51T	K	-	2	0	MSMP	35743744	1.000000	0.71417	0.973000	0.42090	0.950000	0.60333	2.446000	0.44908	2.082000	0.62665	0.533000	0.62120	AAA		0.537	MSMP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052384.2	NM_001044264		9	60	0	0	0	0.047766	0	9	60					G	35753744	T	G	35753744	3	3	12	1	0	0	0	0	1	0	0	0	9884	1841	64	5	275	5	MSMP	9	35753744	Missense_Mutation	SNP	T	TCGA-CH-5737-01A-11D-1576-08	3120771	35753744	105459687	52	444											
VPS13A	23230	broad.mit.edu	37	chr9	79938099	79938099	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctattgtttgtcaaattgatAcagtagaaggaagtaagaag	16	12	10	3	0	1	3	1	1	0	2	1	4	1	4	0	1	1	3	0	1	8	7			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr9:79938099A>G	ENST00000360280.3	+	45	6207	c.5947A>G	c.(5947-5949)Aca>Gca	p.T1983A	VPS13A_ENST00000376636.3_Missense_Mutation_p.T1944A|VPS13A_ENST00000357409.5_Missense_Mutation_p.T1983A|VPS13A_ENST00000376634.4_Missense_Mutation_p.T1983A	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13 homolog A (S. cerevisiae)	1983					cell death (GO:0008219)|Golgi to endosome transport (GO:0006895)|locomotory behavior (GO:0007626)|nervous system development (GO:0007399)|protein localization (GO:0008104)|protein transport (GO:0015031)|social behavior (GO:0035176)	dense core granule (GO:0031045)|intracellular (GO:0005622)		p.T1983A(2)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						TCAAATTGATACAGTAGAAGG	0.403																																						ENST00000360280.3																			2	Substitution - Missense(2)	p.T1983A(2)	breast(2)	breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						c.(5947-5949)Aca>Gca		vacuolar protein sorting 13 homolog A (S. cerevisiae)							116	106	109					9																	79938099		2203	4300	6503	SO:0001583	missense	23230				Golgi to endosome transport|protein transport	intracellular	protein binding	g.chr9:79938099A>G	AB023203	CCDS6655.1, CCDS6656.1, CCDS47983.1, CCDS55321.1	9q21	2014-01-30	2006-04-04	2004-02-11	ENSG00000197969	ENSG00000197969			1908	protein-coding gene	gene with protein product	"chorein"	605978	"chorea acanthocytosis", "vacuolar protein sorting 13A (yeast)"	CHAC		9382101, 11381253	Standard	NM_001018038		Approved	KIAA0986	uc004akr.3	Q96RL7	OTTHUMG00000020055	ENST00000360280.3:c.5947A>G	9.37:g.79938099A>G	ENSP00000353422:p.Thr1983Ala					VPS13A_ENST00000357409.5_Missense_Mutation_p.T1983A|VPS13A_ENST00000376634.4_Missense_Mutation_p.T1983A|VPS13A_ENST00000376636.3_Missense_Mutation_p.T1944A	p.T1983A	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN			45	6207	+			1983					Q5JSX9|Q5JSY0|Q5VYR5|Q702P4|Q709D0|Q86YF8|Q96S61|Q9H995|Q9Y2J1	Missense_Mutation	SNP	ENST00000360280.3	37	c.5947A>G	CCDS6655.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	2.487|2.487	-0.318238|-0.318238	0.05386|0.05386	.|.	.|.	ENSG00000197969|ENSG00000197969	ENST00000419472|ENST00000376634;ENST00000376636;ENST00000360280;ENST00000357409	.|T;T;T;T	.|0.46063	.|1.05;0.88;0.96;1.05	4.76|4.76	-0.256|-0.256	0.12984|0.12984	.|.	.|0.477149	.|0.21885	.|N	.|0.067675	T|T	0.19208|0.19208	0.0461|0.0461	N|N	0.13168|0.13168	0.305|0.305	0.80722|0.80722	D|D	1|1	.|B;B;B;B;B	.|0.09022	.|0.001;0.0;0.001;0.002;0.001	.|B;B;B;B;B	.|0.10450	.|0.005;0.001;0.002;0.002;0.002	T|T	0.05257|0.05257	-1.0896|-1.0896	5|10	.|0.21014	.|T	.|0.42	.|.	4.9182|4.9182	0.13856|0.13856	0.6481:0.0:0.1827:0.1692|0.6481:0.0:0.1827:0.1692	.|.	.|235;1944;1983;1983;1983	.|B1ALW4;Q96RL7-3;Q96RL7;Q96RL7-2;Q96RL7-4	.|.;.;VP13A_HUMAN;.;.	M|A	235|1983;1944;1983;1983	.|ENSP00000365821:T1983A;ENSP00000365823:T1944A;ENSP00000353422:T1983A;ENSP00000349985:T1983A	.|ENSP00000349985:T1983A	I|T	+|+	3|1	3|0	VPS13A|VPS13A	79127919|79127919	1.000000|1.000000	0.71417|0.71417	0.737000|0.737000	0.30932|0.30932	0.983000|0.983000	0.72400|0.72400	0.824000|0.824000	0.27379|0.27379	0.099000|0.099000	0.17552|0.17552	0.477000|0.477000	0.44152|0.44152	ATA|ACA		0.403	VPS13A-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052753.2	NM_015186		3	186	0	0	0	0.115264	0	3	186					G	79938099	A	G	79938099	3	3	12	1	0	0	0	0	1	0	0	0	17186	391	14	4	6125	4	VPS13A	9	79938099	Missense_Mutation	SNP	A	TCGA-CH-5737-01A-11D-1576-08	44184355	79938099	61275332	53	445											
COL15A1	1306	broad.mit.edu	37	chr9	101748355	101748355	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gagtccagcgctggaatcttCatgggcaatgcaggagctac	10	8	13	10	1	2	0	1	0	1	0	3	3	3	2	1	3	4	4	1	3	3	2			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr9:101748355C>T	ENST00000375001.3	+	3	1032	c.609C>T	c.(607-609)ttC>ttT	p.F203F		NM_001855.3	NP_001846.3	P39059	COFA1_HUMAN	collagen, type XV, alpha 1	203	Laminin G-like.				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|signal transduction (GO:0007165)	collagen type XV trimer (GO:0005582)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	extracellular matrix structural constituent (GO:0005201)	p.F203F(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	107		Acute lymphoblastic leukemia(62;0.0562)				CTGGAATCTTCATGGGCAATG	0.557																																						ENST00000375001.3																			1	Substitution - coding silent(1)	p.F203F(1)	prostate(1)	NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	107						c.(607-609)ttC>ttT		collagen, type XV, alpha 1							33	35	34					9																	101748355		2203	4298	6501	SO:0001819	synonymous_variant	1306				angiogenesis|cell differentiation|signal transduction	collagen type XV|extracellular space|integral to membrane	binding	g.chr9:101748355C>T	L25286	CCDS35081.1	9q21-q22	2013-01-16			ENSG00000204291	ENSG00000204291		"Proteoglycans / Extracellular Matrix : Collagen proteoglycans", "Collagens"	2192	protein-coding gene	gene with protein product	"collagen type XV proteoglycan"	120325				1427836	Standard	NM_001855		Approved		uc004azb.2	P39059	OTTHUMG00000020351	ENST00000375001.3:c.609C>T	9.37:g.101748355C>T							p.F203F	NM_001855.3	NP_001846.3	P39059	COFA1_HUMAN			3	1032	+		Acute lymphoblastic leukemia(62;0.0562)	203			TSP N-terminal.		Q5T6J4|Q9UDC5|Q9Y4W4	Silent	SNP	ENST00000375001.3	37	c.609C>T	CCDS35081.1																																																																																				0.557	COL15A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053386.3	NM_001855		4	138	0	0	0	0.014758	0	4	138					T	101748355	C	T	101748355	2	4	12	1	0	0	0	0	0	0	0	1	3672	825	29	3		3	COL15A1	9	101748355	Silent	SNP	C	TCGA-CH-5737-01A-11D-1576-08	21810256	101748355	39465076	54	446											
SNX30	401548	broad.mit.edu	37	chr9	115631068	115631068	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatgttgtcgttccagtgccTcatggcgtgggagtcgatta	6	14	13	8	3	1	0	1	0	0	0	4	2	2	1	2	2	1	2	2	2	2	4			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr9:115631068T>C	ENST00000374232.3	+	9	1423	c.1259T>C	c.(1258-1260)cTc>cCc	p.L420P	SNX30_ENST00000604751.1_Intron	NM_001012994.1	NP_001013012.1	Q5VWJ9	SNX30_HUMAN	sorting nexin family member 30	420					apoptotic process (GO:0006915)|intracellular protein transport (GO:0006886)	endosome (GO:0005768)	phosphatidylinositol binding (GO:0035091)			large_intestine(1)|lung(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8						TTCCAGTGCCTCATGGCGTGG	0.493																																						ENST00000374232.3																			0				large_intestine(1)|lung(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8						c.(1258-1260)cTc>cCc		sorting nexin family member 30							175	177	177					9																	115631068		2019	4179	6198	SO:0001583	missense	401548				cell communication|protein transport	cytoplasm	phosphatidylinositol binding	g.chr9:115631068T>C	AK126644	CCDS43865.1	9q33.1	2014-02-12			ENSG00000148158	ENSG00000148158		"Sorting nexins"	23685	protein-coding gene	gene with protein product							Standard	NM_001012994		Approved	ATG24A	uc004bgj.4	Q5VWJ9	OTTHUMG00000020512	ENST00000374232.3:c.1259T>C	9.37:g.115631068T>C	ENSP00000363349:p.Leu420Pro					SNX30_ENST00000604751.1_Intron	p.L420P	NM_001012994.1	NP_001013012.1	Q5VWJ9	SNX30_HUMAN			9	1423	+			420						Missense_Mutation	SNP	ENST00000374232.3	37	c.1259T>C	CCDS43865.1	.	.	.	.	.	.	.	.	.	.	T	21.0	4.085251	0.76642	.	.	ENSG00000148158	ENST00000374232	T	0.49720	0.77	5.43	5.43	0.79202	BAR (1);	0.145736	0.49305	D	0.000158	T	0.65481	0.2695	M	0.69823	2.125	0.80722	D	1	D	0.65815	0.995	P	0.61658	0.892	T	0.69749	-0.5061	10	0.72032	D	0.01	.	15.4981	0.75673	0.0:0.0:0.0:1.0	.	420	Q5VWJ9	SNX30_HUMAN	P	420	ENSP00000363349:L420P	ENSP00000363349:L420P	L	+	2	0	SNX30	114670889	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	5.539000	0.67199	2.061000	0.61500	0.533000	0.62120	CTC		0.493	SNX30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053700.1			3	195	0	0	0	0.150653	0	3	195					C	115631068	T	C	115631068	3	2	12	1	0	0	0	0	1	0	0	0	14900	1551	54	4	1293	4	SNX30	9	115631068	Missense_Mutation	SNP	T	TCGA-CH-5737-01A-11D-1576-08	13882713	115631068	25582363	55	447											
GOLGA2	2801	broad.mit.edu	37	chr9	131023799	131023799	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cctttgagattctccgcataTttatctctctccatttgtag	7	18	5	11	1	3	1	0	1	3	1	6	2	3	1	3	0	0	2	3	0	3	7			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr9:131023799T>A	ENST00000421699.2	-	15	1197	c.1185A>T	c.(1183-1185)aaA>aaT	p.K395N	GOLGA2_ENST00000609374.1_Missense_Mutation_p.K383N	NM_004486.4	NP_004477.3	Q08379	GOGA2_HUMAN	golgin A2	395					mitotic cell cycle (GO:0000278)	cis-Golgi network (GO:0005801)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)		p.K383N(1)|p.K395N(1)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	34						TCTCCGCATATTTATCTCTCT	0.517																																						ENST00000421699.2																			2	Substitution - Missense(2)	p.K383N(1)|p.K395N(1)	prostate(2)	NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	34						c.(1183-1185)aaA>aaT		golgin A2							130	133	132					9																	131023799		2203	4300	6503	SO:0001583	missense	2801					Golgi cisterna membrane	protein binding	g.chr9:131023799T>A	L06147	CCDS6896.2	9q34.13	2010-06-28	2010-02-12		ENSG00000167110	ENSG00000167110			4425	protein-coding gene	gene with protein product	"Golgi matrix protein GM130", "SY11 protein"	602580	"golgi autoantigen, golgin subfamily a, 2"			8315394	Standard	NM_004486		Approved	GM130, golgin-95	uc011maw.2	Q08379	OTTHUMG00000020732	ENST00000421699.2:c.1185A>T	9.37:g.131023799T>A	ENSP00000416097:p.Lys395Asn						p.K395N	NM_004486.4	NP_004477.3	Q08379	GOGA2_HUMAN			15	1197	-			395					Q6GRM9|Q9BRB0|Q9NYF9	Missense_Mutation	SNP	ENST00000421699.2	37	c.1185A>T	CCDS6896.2	.	.	.	.	.	.	.	.	.	.	t	20.5	4.006911	0.74932	.	.	ENSG00000167110	ENST00000421699;ENST00000450617	T;T	0.24350	1.86;1.86	5.3	-7.12	0.01537	.	0.758213	0.13290	N	0.399059	T	0.07007	0.0178	N	0.03608	-0.345	0.09310	N	0.999998	B	0.06786	0.001	B	0.01281	0.0	T	0.24440	-1.0160	10	0.19590	T	0.45	.	4.9217	0.13872	0.1845:0.2505:0.4453:0.1197	.	395	Q08379	GOGA2_HUMAN	N	395;422	ENSP00000416097:K395N;ENSP00000409271:K422N	ENSP00000416097:K395N	K	-	3	2	GOLGA2	130063620	0.398000	0.25279	0.000000	0.03702	0.760000	0.43138	-0.199000	0.09491	-1.764000	0.01305	0.254000	0.18369	AAA		0.517	GOLGA2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054358.2	NM_004486		9	217	0	0	0	0.058154	0	9	217					A	131023799	T	A	131023799	3	1	12	1	0	0	0	0	1	0	0	0	6552	1490	52	5	1871	5	GOLGA2	9	131023799	Missense_Mutation	SNP	T	TCGA-CH-5737-01A-11D-1576-08	15392731	131023799	10189632	56	448											
ARID5B	84159	broad.mit.edu	37	chr10	63851205	63851205	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gacatgttcaaagacaaagaCctgactgggcccatgaacga	15	6	10	10	1	1	4	1	2	0	2	1	6	1	4	2	1	1	1	2	1	3	1			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr10:63851205C>G	ENST00000279873.7	+	10	2393	c.1983C>G	c.(1981-1983)gaC>gaG	p.D661E	ARID5B_ENST00000309334.5_Missense_Mutation_p.D418E	NM_032199.2	NP_115575.1	Q14865	ARI5B_HUMAN	AT rich interactive domain 5B (MRF1-like)	661					adipose tissue development (GO:0060612)|adrenal gland development (GO:0030325)|cell development (GO:0048468)|face morphogenesis (GO:0060325)|fat cell differentiation (GO:0045444)|fat pad development (GO:0060613)|female gonad development (GO:0008585)|fibroblast migration (GO:0010761)|kidney development (GO:0001822)|liver development (GO:0001889)|male gonad development (GO:0008584)|multicellular organism growth (GO:0035264)|muscle organ morphogenesis (GO:0048644)|negative regulation of transcription, DNA-templated (GO:0045892)|palate development (GO:0060021)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|post-embryonic development (GO:0009791)|skeletal system morphogenesis (GO:0048705)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|transcription regulatory region DNA binding (GO:0044212)	p.D661E(1)		NS(1)|breast(2)|endometrium(13)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	Prostate(12;0.016)|all_hematologic(501;0.215)					AAGACAAAGACCTGACTGGGC	0.537																																						ENST00000279873.7																			1	Substitution - Missense(1)	p.D661E(1)	prostate(1)	NS(1)|breast(2)|endometrium(13)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44						c.(1981-1983)gaC>gaG		AT rich interactive domain 5B (MRF1-like)							69	59	62					10																	63851205		2203	4300	6503	SO:0001583	missense	84159				liver development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent		protein binding|transcription regulatory region DNA binding	g.chr10:63851205C>G	M73837	CCDS31208.1, CCDS58082.1	10q11.22	2013-02-07			ENSG00000150347	ENSG00000150347		"-"	17362	protein-coding gene	gene with protein product		608538				11483573, 11478881	Standard	NM_032199		Approved	FLJ21150, MRF2	uc001jlt.2	Q14865	OTTHUMG00000018298	ENST00000279873.7:c.1983C>G	10.37:g.63851205C>G	ENSP00000279873:p.Asp661Glu					ARID5B_ENST00000309334.5_Missense_Mutation_p.D418E	p.D661E	NM_032199.2	NP_115575.1	Q14865	ARI5B_HUMAN			10	2393	+	Prostate(12;0.016)|all_hematologic(501;0.215)		661					B4DLB3|Q05DG6|Q32Q59|Q5VST4|Q6NZ42|Q7Z3M4|Q8N421|Q9H786	Missense_Mutation	SNP	ENST00000279873.7	37	c.1983C>G	CCDS31208.1	.	.	.	.	.	.	.	.	.	.	C	0.831	-0.745108	0.03065	.	.	ENSG00000150347	ENST00000279873;ENST00000309334	T;T	0.36520	1.25;1.27	5.87	0.683	0.17998	.	0.051506	0.85682	D	0.000000	T	0.09024	0.0223	N	0.02315	-0.6	0.30370	N	0.782973	B	0.02656	0.0	B	0.04013	0.001	T	0.16778	-1.0391	10	0.06757	T	0.87	-25.4974	0.6843	0.00880	0.2011:0.3191:0.2394:0.2404	.	661	Q14865	ARI5B_HUMAN	E	661;418	ENSP00000279873:D661E;ENSP00000308862:D418E	ENSP00000279873:D661E	D	+	3	2	ARID5B	63521211	0.000000	0.05858	0.997000	0.53966	0.983000	0.72400	-0.532000	0.06164	0.400000	0.25396	-0.137000	0.14449	GAC		0.537	ARID5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048233.1	XM_084482		3	59	0	0	0	0.115264	0	3	59					G	63851205	C	G	63851205	3	3	12	1	0	0	0	0	1	0	0	0	922	506	18	5	2021	5	ARID5B	10	63851205	Missense_Mutation	SNP	C	TCGA-CH-5737-01A-11D-1576-08		63851205	71683542	57	449											
CBARA1	10367	broad.mit.edu	37	chr10	74135571	74135571	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aaagagtgcaaacaccacatCacacacgtggtctgagagct	15	6	9	11	1	2	2	1	1	1	2	2	3	2	2	1	1	3	2	1	1	2	0			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr10:74135571C>G	ENST00000361114.5	-	11	1336	c.1240G>C	c.(1240-1242)Gat>Cat	p.D414H	MICU1_ENST00000398761.4_Missense_Mutation_p.D416H|MICU1_ENST00000398763.4_Missense_Mutation_p.D216H|MICU1_ENST00000418483.2_Missense_Mutation_p.D216H|MICU1_ENST00000401998.3_Missense_Mutation_p.D414H	NM_001195518.1|NM_006077.3	NP_001182447.1|NP_006068.2	Q9BPX6	MICU1_HUMAN	mitochondrial calcium uptake 1	414	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.				calcium ion import (GO:0070509)|calcium ion transmembrane import into mitochondrion (GO:0036444)|defense response (GO:0006952)|mitochondrial calcium ion homeostasis (GO:0051560)|mitochondrial calcium ion transport (GO:0006851)|positive regulation of mitochondrial calcium ion concentration (GO:0051561)|protein homooligomerization (GO:0051260)	calcium channel complex (GO:0034704)|integral component of mitochondrial membrane (GO:0032592)|intracellular (GO:0005622)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|uniplex complex (GO:1990246)	calcium ion binding (GO:0005509)|protein heterodimerization activity (GO:0046982)	p.D414H(1)|p.D416H(1)									AACACCACATCACACACGTGG	0.537																																						ENST00000398761.4																			2	Substitution - Missense(2)	p.D414H(1)|p.D416H(1)	prostate(2)								c.(1246-1248)Gat>Cat		mitochondrial calcium uptake 1							74	75	75					10																	74135571		2102	4225	6327	SO:0001583	missense	10367				calcium ion import|defense response|elevation of mitochondrial calcium ion concentration	integral to membrane|mitochondrial inner membrane	calcium ion binding|protein binding	g.chr10:74135571C>G	Y17711	CCDS55714.1, CCDS55715.1	10q22.1	2013-01-10	2011-06-23	2011-06-23	ENSG00000107745	ENSG00000107745		"EF-hand domain containing"	1530	protein-coding gene	gene with protein product		605084	"calcium binding atopy-related autoantigen 1"	CBARA1		9806765, 20693986	Standard	NM_006077		Approved	CALC, EFHA3, FLJ12684	uc001jtb.2	Q9BPX6	OTTHUMG00000018437	ENST00000361114.5:c.1240G>C	10.37:g.74135571C>G	ENSP00000354415:p.Asp414His					MICU1_ENST00000398763.4_Missense_Mutation_p.D216H|MICU1_ENST00000361114.5_Missense_Mutation_p.D414H|MICU1_ENST00000418483.2_Missense_Mutation_p.D216H|MICU1_ENST00000401998.3_Missense_Mutation_p.D414H	p.D416H			Q9BPX6	MICU1_HUMAN			13	1378	-			414			EF-hand 2.		A8MV96|B3KN20|B4DJH9|B4DPI1|B5MBY3|D3YTJ3|O75785|Q9H9N6|Q9UFX0	Missense_Mutation	SNP	ENST00000361114.5	37	c.1246G>C	CCDS55715.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.136449	0.77662	.	.	ENSG00000107745	ENST00000361114;ENST00000398761;ENST00000401998;ENST00000418483;ENST00000398763	T;T;T;T;T	0.80909	-1.43;-1.43;-1.43;-1.43;-1.43	5.75	5.75	0.90469	EF-hand-like domain (1);	0.053416	0.64402	D	0.000001	D	0.84165	0.5412	M	0.79258	2.445	0.80722	D	1	B;B;P	0.45672	0.113;0.113;0.864	B;B;B	0.43386	0.214;0.214;0.418	D	0.85832	0.1392	10	0.59425	D	0.04	.	20.0116	0.97452	0.0:1.0:0.0:0.0	.	216;216;414	Q9BPX6-4;Q9BPX6-5;Q9BPX6	.;.;MICU1_HUMAN	H	414;416;414;216;216	ENSP00000354415:D414H;ENSP00000381745:D416H;ENSP00000384068:D414H;ENSP00000402470:D216H;ENSP00000381747:D216H	ENSP00000354415:D414H	D	-	1	0	MICU1	73805577	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.050000	0.71063	2.742000	0.94016	0.650000	0.86243	GAT		0.537	MICU1-002	KNOWN	overlapping_uORF|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048586.1	NM_006077		6	22	0	0	0	0.038147	0	6	22					G	74135571	C	G	74135571	3	3	12	1	0	0	0	0	1	0	0	0	2696	826	29	5	198	5	CBARA1	10	74135571	Missense_Mutation	SNP	C	TCGA-CH-5737-01A-11D-1576-08	10284366	74135571	61399176	58	450											
PTEN	5728	broad.mit.edu	37	chr10	89692871	89692871	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	taagtgaagatgacaatcatGttgcagcaattcactgtaaa	16	11	8	6	0	2	3	2	2	0	1	2	3	2	3	0	0	2	4	0	0	6	4	rs139767111		TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr10:89692871G>T	ENST00000371953.3	+	5	1712	c.355G>T	c.(355-357)Gtt>Ttt	p.V119F		NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	119	Phosphatase tensin-type. {ECO:0000255|PROSITE-ProRule:PRU00590}.		V -> L (in multiple cancers). {ECO:0000269|PubMed:10807691}.		activation of mitotic anaphase-promoting complex activity (GO:0007092)|aging (GO:0007568)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|brain morphogenesis (GO:0048854)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle tissue development (GO:0048738)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|central nervous system myelin maintenance (GO:0032286)|central nervous system neuron axonogenesis (GO:0021955)|dendritic spine morphogenesis (GO:0060997)|dentate gyrus development (GO:0021542)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|innate immune response (GO:0045087)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|learning or memory (GO:0007611)|locomotor rhythm (GO:0045475)|locomotory behavior (GO:0007626)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|male mating behavior (GO:0060179)|maternal behavior (GO:0042711)|memory (GO:0007613)|multicellular organismal response to stress (GO:0033555)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell aging (GO:0090344)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031658)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myelination (GO:0031642)|negative regulation of organ growth (GO:0046621)|negative regulation of phagocytosis (GO:0050765)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of ribosome biogenesis (GO:0090071)|negative regulation of synaptic vesicle clustering (GO:2000808)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell proliferation (GO:0008284)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|postsynaptic density assembly (GO:0097107)|prepulse inhibition (GO:0060134)|presynaptic membrane assembly (GO:0097105)|prostate gland growth (GO:0060736)|protein dephosphorylation (GO:0006470)|protein kinase B signaling (GO:0043491)|protein stabilization (GO:0050821)|regulation of B cell apoptotic process (GO:0002902)|regulation of cellular component size (GO:0032535)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of neuron projection development (GO:0010975)|regulation of protein stability (GO:0031647)|response to arsenic-containing substance (GO:0046685)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse maturation (GO:0060074)|T cell receptor signaling pathway (GO:0050852)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|myelin sheath adaxonal region (GO:0035749)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)	anaphase-promoting complex binding (GO:0010997)|enzyme binding (GO:0019899)|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity (GO:0051717)|lipid binding (GO:0008289)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity (GO:0051800)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.0?(37)|p.?(5)|p.R55fs*1(5)|p.Y27fs*1(2)|p.V119F(2)|p.V119fs*15(1)|p.F56fs*2(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		TGACAATCATGTTGCAGCAAT	0.403		31	"D, Mis, N, F, S"		"glioma,  prostate, endometrial"	"harmartoma, glioma,  prostate, endometrial"			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																												ENST00000371953.3		31	yes	Rec	yes	"Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"	10	10q23.3	5728	"D, Mis, N, F, S"	phosphatase and tensin homolog gene			"L, E, M, O"		"harmartoma, glioma,  prostate, endometrial"	"glioma,  prostate, endometrial"		53	Whole gene deletion(37)|Deletion - Frameshift(9)|Unknown(5)|Substitution - Missense(2)	p.0?(37)|p.?(5)|p.R55fs*1(5)|p.Y27fs*1(2)|p.V119F(2)|p.V119fs*15(1)|p.F56fs*2(1)	prostate(17)|central_nervous_system(12)|skin(6)|lung(5)|haematopoietic_and_lymphoid_tissue(4)|breast(3)|ovary(3)|soft_tissue(1)|endometrium(1)|urinary_tract(1)	NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771	GRCh37	CM001318	PTEN	M	rs139767111	c.(355-357)Gtt>Ttt		phosphatase and tensin homolog							137	126	130					10																	89692871		2203	4298	6501	SO:0001583	missense	5728	Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	Familial Cancer Database	Incl.: Encephalocraniocutaneous Lipomatosis, ECCL, Proteus-like s.;incl.: Juvenile Polyposis of the Stomach;HMPS1, Colorectal Adenoma Carcinoma syndrome, CRAC, CRAC1;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;subset of PTEN-Hamartoma Tumor Syndrome; incl.: Ruvalcaba-Myhre-Smith s.	activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr10:89692871G>T	U92436	CCDS31238.1	10q23	2014-09-17	2008-07-31		ENSG00000171862	ENSG00000171862		"Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"	9588	protein-coding gene	gene with protein product	"mutated in multiple advanced cancers 1"	601728		BZS, MHAM		9090379	Standard	NM_000314		Approved	MMAC1, TEP1, PTEN1	uc001kfb.3	P60484	OTTHUMG00000018688	ENST00000371953.3:c.355G>T	10.37:g.89692871G>T	ENSP00000361021:p.Val119Phe	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)					p.V119F	NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)	5	1712	+		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	119		V -> L (in multiple cancers).	Phosphatase tensin-type.		B2R904|F2YHV0|O00633|O02679|Q6ICT7	Missense_Mutation	SNP	ENST00000371953.3	37	c.355G>T	CCDS31238.1	.	.	.	.	.	.	.	.	.	.	G	29.8	5.037334	0.93630	.	.	ENSG00000171862	ENST00000371953	D	0.98747	-5.11	5.22	5.22	0.72569	Phosphatase tensin type (1);Dual specificity phosphatase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.99504	0.9823	H	0.97214	3.96	0.80722	D	1	D	0.76494	0.999	D	0.75484	0.986	D	0.98043	1.0383	9	.	.	.	-4.8547	18.7776	0.91918	0.0:0.0:1.0:0.0	.	119	P60484	PTEN_HUMAN	F	119	ENSP00000361021:V119F	.	V	+	1	0	PTEN	89682851	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.429000	0.97481	2.411000	0.81874	0.655000	0.94253	GTT		0.403	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1	NM_000314		58	83	1	0	5.00936e-31	0.139131	6.12752e-31	58	83					T	89692871	G	T	89692871	3	4	12	1	0	0	0	0	1	0	0	0	12738	1377	48	5	373	5	PTEN	10	89692871	Missense_Mutation	SNP	G	TCGA-CH-5737-01A-11D-1576-08	15557300	89692871	45841876	59	451											
CCDC147	159686	broad.mit.edu	37	chr10	106125599	106125599	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagaaatccagcaacgtcagAacgaagcttcccgggagttc	14	6	10	11	3	1	2	1	0	0	2	4	4	3	3	2	1	4	3	2	1	5	2			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr10:106125599A>C	ENST00000369704.3	+	5	759	c.625A>C	c.(625-627)Aac>Cac	p.N209H	CCDC147_ENST00000312902.5_5'UTR	NM_001008723.1	NP_001008723.1	Q5T655	CC147_HUMAN		209						extracellular space (GO:0005615)		p.N209H(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	52		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;7.55e-10)|all cancers(201;3.37e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0189)		GCAACGTCAGAACGAAGCTTC	0.512																																						ENST00000369704.3																			1	Substitution - Missense(1)	p.N209H(1)	prostate(1)	NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						c.(625-627)Aac>Cac		coiled-coil domain containing 147							72	74	73					10																	106125599		2203	4300	6503	SO:0001583	missense	159686							g.chr10:106125599A>C																												ENST00000369704.3:c.625A>C	10.37:g.106125599A>C	ENSP00000358718:p.Asn209His					CCDC147_ENST00000312902.5_5'UTR	p.N209H	NM_001008723.1	NP_001008723.1	Q5T655	CC147_HUMAN		Epithelial(162;7.55e-10)|all cancers(201;3.37e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0189)	5	759	+		Colorectal(252;0.103)|Breast(234;0.122)	209					D3DRA6|Q8NA27	Missense_Mutation	SNP	ENST00000369704.3	37	c.625A>C	CCDS31282.1	.	.	.	.	.	.	.	.	.	.	A	16.19	3.054146	0.55218	.	.	ENSG00000120051	ENST00000369704	T	0.33865	1.39	5.79	5.79	0.91817	.	0.121462	0.85682	D	0.000000	T	0.44787	0.1310	M	0.80616	2.505	0.80722	D	1	B	0.32188	0.359	B	0.32289	0.143	T	0.46062	-0.9218	10	0.51188	T	0.08	-15.2647	16.1193	0.81336	1.0:0.0:0.0:0.0	.	209	Q5T655	CC147_HUMAN	H	209	ENSP00000358718:N209H	ENSP00000358718:N209H	N	+	1	0	CCDC147	106115589	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	7.155000	0.77445	2.201000	0.70794	0.533000	0.62120	AAC		0.512	CCDC147-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050216.1			4	86	0	0	0	0.150653	0	4	86					C	106125599	A	C	106125599	3	2	12	1	0	0	0	0	1	0	0	0	2781	246	9	5	643	5	CCDC147	10	106125599	Missense_Mutation	SNP	A	TCGA-CH-5737-01A-11D-1576-08	16432728	106125599	29409148	60	452											
OR5T1	390155	broad.mit.edu	37	chr11	56043918	56043918	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atttatcatgggacaatcctCttcatgtatgtgagaccaag	12	13	8	8	0	3	1	2	1	1	1	4	3	4	2	2	1	0	1	2	1	4	4			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr11:56043918C>T	ENST00000313033.2	+	1	890	c.804C>T	c.(802-804)ctC>ctT	p.L268L		NM_001004745.1	NP_001004745.1	Q8NG75	OR5T1_HUMAN	olfactory receptor, family 5, subfamily T, member 1	268						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L268L(1)		NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(27)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	43	Esophageal squamous(21;0.00448)					GGACAATCCTCTTCATGTATG	0.428																																						ENST00000313033.2																			1	Substitution - coding silent(1)	p.L268L(1)	prostate(1)	NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(27)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	43						c.(802-804)ctC>ctT		olfactory receptor, family 5, subfamily T, member 1							235	203	213					11																	56043918		2201	4296	6497	SO:0001819	synonymous_variant	390155				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56043918C>T	AB065962	CCDS31525.1	11q11	2012-08-09		2004-03-10	ENSG00000181698	ENSG00000181698		"GPCR / Class A : Olfactory receptors"	14821	protein-coding gene	gene with protein product				OR5T1P			Standard	NM_001004745		Approved		uc001nio.1	Q8NG75	OTTHUMG00000166853	ENST00000313033.2:c.804C>T	11.37:g.56043918C>T							p.L268L	NM_001004745.1	NP_001004745.1	Q8NG75	OR5T1_HUMAN			1	890	+	Esophageal squamous(21;0.00448)		268					B2RNM9	Silent	SNP	ENST00000313033.2	37	c.804C>T	CCDS31525.1																																																																																				0.428	OR5T1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391600.1	NM_001004745		165	329	0	0	0	0.139131	0	165	329					T	56043918	C	T	56043918	2	4	12	1	0	0	0	0	0	0	0	1	11181	900	32	3		3	OR5T1	11	56043918	Silent	SNP	C	TCGA-CH-5737-01A-11D-1576-08		56043918	78962598	61	453											
OR5B12	390191	broad.mit.edu	37	chr11	58207266	58207266	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtttacacaatgctgcatagCggtcataggccattgatgcc	10	11	10	10	1	1	1	1	1	0	0	1	1	1	1	2	2	5	3	2	2	4	5			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr11:58207266C>T	ENST00000302572.2	-	1	380	c.359G>A	c.(358-360)cGc>cAc	p.R120H		NM_001004733.2	NP_001004733.1	Q96R08	OR5BC_HUMAN	olfactory receptor, family 5, subfamily B, member 12	120						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R120H(1)		large_intestine(6)|liver(1)|lung(28)|ovary(1)|prostate(3)|skin(1)	40	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				TGCTGCATAGCGGTCATAGGC	0.433																																						ENST00000302572.2																			1	Substitution - Missense(1)	p.R120H(1)	prostate(1)	large_intestine(6)|liver(1)|lung(28)|ovary(1)|prostate(3)|skin(1)	40						c.(358-360)cGc>cAc		olfactory receptor, family 5, subfamily B, member 12							128	121	123					11																	58207266		2201	4295	6496	SO:0001583	missense	390191				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:58207266C>T	AB065851	CCDS31551.1	11q12.1	2012-08-09		2004-03-10	ENSG00000172362	ENSG00000172362		"GPCR / Class A : Olfactory receptors"	15432	protein-coding gene	gene with protein product				OR5B12P, OR5B16		12213199	Standard	NM_001004733		Approved	OST743	uc010rkh.2	Q96R08	OTTHUMG00000167543	ENST00000302572.2:c.359G>A	11.37:g.58207266C>T	ENSP00000306657:p.Arg120His						p.R120H	NM_001004733.2	NP_001004733.1	Q96R08	OR5BC_HUMAN			1	380	-	Esophageal squamous(5;0.0027)	Breast(21;0.0778)	120					B2RNL2|Q6IEV5	Missense_Mutation	SNP	ENST00000302572.2	37	c.359G>A	CCDS31551.1	.	.	.	.	.	.	.	.	.	.	C	18.66	3.671700	0.67928	.	.	ENSG00000172362	ENST00000302572	T	0.77489	-1.1	4.44	4.44	0.53790	GPCR, rhodopsin-like superfamily (1);	0.130653	0.35525	N	0.003143	T	0.78880	0.4353	M	0.84156	2.68	0.44908	D	0.997921	P	0.37781	0.608	B	0.33521	0.165	D	0.83695	0.0179	10	0.66056	D	0.02	-10.6595	16.5752	0.84634	0.0:1.0:0.0:0.0	.	120	Q96R08	OR5BC_HUMAN	H	120	ENSP00000306657:R120H	ENSP00000306657:R120H	R	-	2	0	OR5B12	57963842	0.582000	0.26749	0.999000	0.59377	0.881000	0.50899	2.046000	0.41260	2.471000	0.83476	0.462000	0.41574	CGC		0.433	OR5B12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394987.1	NM_001004733		48	112	0	0	0	0.139131	0	48	112					T	58207266	C	T	58207266	3	4	12	1	0	0	0	0	1	0	0	0	11148	768	27	1	589	1	OR5B12	11	58207266	Missense_Mutation	SNP	C	TCGA-CH-5737-01A-11D-1576-08	2163348	58207266	76799250	62	454											
VWCE	220001	broad.mit.edu	37	chr11	61034970	61034970	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agacatgggtccagcacagaCgggaaggtctcgttgttata	11	9	13	8	2	1	2	0	0	1	2	3	3	2	3	1	3	1	3	1	3	3	3	rs192323431		TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr11:61034970C>T	ENST00000335613.5	-	16	2315	c.1929G>A	c.(1927-1929)ccG>ccA	p.P643P	VWCE_ENST00000535710.1_Silent_p.P108P	NM_152718.2	NP_689931.2	Q96DN2	VWCE_HUMAN	von Willebrand factor C and EGF domains	643	VWFC 5. {ECO:0000255|PROSITE- ProRule:PRU00220}.					extracellular region (GO:0005576)	calcium ion binding (GO:0005509)	p.P643P(1)		biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						CCAGCACAGACGGGAAGGTCT	0.597													C|||	1	0.000199681	0	0	5008	,	,		17829	0		0.001	False		,,,				2504	0					ENST00000335613.5																			1	Substitution - coding silent(1)	p.P643P(1)	prostate(1)	biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						c.(1927-1929)ccG>ccA		von Willebrand factor C and EGF domains							141	113	123					11																	61034970		2203	4299	6502	SO:0001819	synonymous_variant	220001					extracellular region	calcium ion binding	g.chr11:61034970C>T	AK056571	CCDS8002.1	11q12.2	2006-08-04			ENSG00000167992	ENSG00000167992			26487	protein-coding gene	gene with protein product		611115				12869306	Standard	NM_152718		Approved	URG11, FLJ32009, VWC1	uc001nra.3	Q96DN2	OTTHUMG00000168208	ENST00000335613.5:c.1929G>A	11.37:g.61034970C>T						VWCE_ENST00000535710.1_Silent_p.P108P	p.P643P	NM_152718.2	NP_689931.2	Q96DN2	VWCE_HUMAN			16	2315	-			643			VWFC 5.		A5PKV0|Q7Z7L6|Q86WK8	Silent	SNP	ENST00000335613.5	37	c.1929G>A	CCDS8002.1																																																																																				0.597	VWCE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398811.1	NM_152718		40	83	0	0	0	0.080422	0	40	83					T	61034970	C	T	61034970	2	4	12	1	0	0	0	0	0	0	0	1	17242	523	19	1		1	VWCE	11	61034970	Silent	SNP	C	TCGA-CH-5737-01A-11D-1576-08	2827704	61034970	73971546	63	455											
FERMT3	83706	broad.mit.edu	37	chr11	63978262	63978262	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccgcgcactgcgcctccgtGccagcttctcccagcccctc	3	7	9	22	4	1	0	0	0	1	0	4	0	2	0	7	0	4	2	7	0	0	1			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr11:63978262G>T	ENST00000279227.5	+	3	435	c.340G>T	c.(340-342)Gcc>Tcc	p.A114S	FERMT3_ENST00000345728.5_Missense_Mutation_p.A114S	NM_178443.2	NP_848537.1	Q86UX7	URP2_HUMAN	fermitin family member 3	114					integrin activation (GO:0033622)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|platelet aggregation (GO:0070527)|regulation of cell-cell adhesion mediated by integrin (GO:0033632)|substrate adhesion-dependent cell spreading (GO:0034446)	cell junction (GO:0030054)|cell projection (GO:0042995)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|podosome (GO:0002102)	integrin binding (GO:0005178)	p.A114S(2)		breast(1)|cervix(1)|endometrium(4)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	18						GCGCCTCCGTGCCAGCTTCTC	0.667																																						ENST00000279227.5																			2	Substitution - Missense(2)	p.A114S(2)	prostate(2)	breast(1)|cervix(1)|endometrium(4)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	18						c.(340-342)Gcc>Tcc		fermitin family member 3							74	85	81					11																	63978262		2201	4297	6498	SO:0001583	missense	83706				integrin activation|leukocyte cell-cell adhesion|platelet aggregation|regulation of cell-cell adhesion mediated by integrin	cell junction|cell projection|podosome	integrin binding	g.chr11:63978262G>T	L25343	CCDS8059.1, CCDS8060.1	11q13.1	2014-09-17	2010-06-24		ENSG00000149781	ENSG00000149781		"Fermitins", "Pleckstrin homology (PH) domain containing"	23151	protein-coding gene	gene with protein product	"kindlin-3"	607901	"fermitin family homolog 3 (Drosophila)"				Standard	NM_178443		Approved	URP2, KIND3, MIG2B, MGC10966, MIG-2, UNC112C	uc001nym.2	Q86UX7	OTTHUMG00000167790	ENST00000279227.5:c.340G>T	11.37:g.63978262G>T	ENSP00000279227:p.Ala114Ser					FERMT3_ENST00000345728.5_Missense_Mutation_p.A114S	p.A114S	NM_178443.2	NP_848537.1	Q86UX7	URP2_HUMAN			3	435	+			114					Q8IUA1|Q8N207|Q9BT48	Missense_Mutation	SNP	ENST00000279227.5	37	c.340G>T	CCDS8060.1	.	.	.	.	.	.	.	.	.	.	G	16.61	3.170157	0.57584	.	.	ENSG00000149781	ENST00000544997;ENST00000345728;ENST00000279227	T;T;T	0.16196	2.36;2.36;2.36	3.68	2.76	0.32466	Band 4.1 domain (1);	0.220204	0.36740	N	0.002431	T	0.13670	0.0331	L	0.34521	1.04	0.29712	N	0.839325	B;B	0.20164	0.042;0.001	B;B	0.23419	0.046;0.005	T	0.11203	-1.0597	10	0.87932	D	0	-16.5228	9.9831	0.41826	0.104:0.0:0.896:0.0	.	114;114	Q86UX7-2;Q86UX7	.;URP2_HUMAN	S	114	ENSP00000445778:A114S;ENSP00000339950:A114S;ENSP00000279227:A114S	ENSP00000279227:A114S	A	+	1	0	FERMT3	63734838	0.995000	0.38212	0.738000	0.30950	0.902000	0.53008	3.589000	0.53972	0.905000	0.36596	0.555000	0.69702	GCC		0.667	FERMT3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000396297.1	NM_031471		6	192	1	0	0.00198382	0.02938	0.00215701	6	192					T	63978262	G	T	63978262	3	4	12	1	0	0	0	0	1	0	0	0	5819	1319	46	5	346	5	FERMT3	11	63978262	Missense_Mutation	SNP	G	TCGA-CH-5737-01A-11D-1576-08	2943292	63978262	71028254	64	456											
TIGD3	220359	broad.mit.edu	37	chr11	65123663	65123663	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggctggctggtccgctggaaAcgccgaaacaacgtcggctt	8	7	14	12	5	0	0	0	0	0	0	2	2	1	1	2	5	3	4	2	5	3	1			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr11:65123663A>G	ENST00000309880.5	+	2	591	c.384A>G	c.(382-384)aaA>aaG	p.K128K		NM_145719.2	NP_663771.1	Q6B0B8	TIGD3_HUMAN	tigger transposable element derived 3	128	HTH CENPB-type. {ECO:0000255|PROSITE- ProRule:PRU00583}.					nucleus (GO:0005634)	DNA binding (GO:0003677)	p.K128K(1)		endometrium(3)|large_intestine(1)|lung(9)|prostate(2)|skin(2)	17						TCCGCTGGAAACGCCGAAACA	0.657																																						ENST00000309880.5																			1	Substitution - coding silent(1)	p.K128K(1)	prostate(1)	endometrium(3)|large_intestine(1)|lung(9)|prostate(2)|skin(2)	17						c.(382-384)aaA>aaG		tigger transposable element derived 3							41	44	43					11																	65123663		2201	4297	6498	SO:0001819	synonymous_variant	220359				regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	DNA binding	g.chr11:65123663A>G		CCDS8101.1	11q13.1	2008-07-21				ENSG00000173825			18334	protein-coding gene	gene with protein product							Standard	NM_145719		Approved		uc001odo.4	Q6B0B8		ENST00000309880.5:c.384A>G	11.37:g.65123663A>G							p.K128K	NM_145719.2	NP_663771.1	Q6B0B8	TIGD3_HUMAN			2	591	+			128			HTH CENPB-type.			Silent	SNP	ENST00000309880.5	37	c.384A>G	CCDS8101.1																																																																																				0.657	TIGD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387310.1	NM_145719		7	62	0	0	0	0.047766	0	7	62					G	65123663	A	G	65123663	2	3	12	1	0	0	0	0	0	0	0	1	15894	40	2	4		4	TIGD3	11	65123663	Silent	SNP	A	TCGA-CH-5737-01A-11D-1576-08	1145401	65123663	69882853	65	457											
DPP3	10072	broad.mit.edu	37	chr11	66259193	66259193	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	atcgggttcatcgagagctaCcgcgacccctttggttcccg	6	10	11	14	5	1	1	1	0	0	1	4	3	2	1	4	2	2	3	4	2	1	4			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr11:66259193C>T	ENST00000360510.2	+	9	1019	c.954C>T	c.(952-954)taC>taT	p.Y318Y	DPP3_ENST00000541961.1_Silent_p.Y318Y|DPP3_ENST00000453114.1_Silent_p.Y318Y|DPP3_ENST00000530165.1_Silent_p.Y288Y|DPP3_ENST00000531863.1_Silent_p.Y338Y|DPP3_ENST00000532677.1_Silent_p.Y337Y			Q9NY33	DPP3_HUMAN	dipeptidyl-peptidase 3	318					proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	dipeptidyl-peptidase activity (GO:0008239)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.Y318Y(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)	23						TCGAGAGCTACCGCGACCCCT	0.612																																						ENST00000532677.1																			1	Substitution - coding silent(1)	p.Y318Y(1)	prostate(1)	breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)	23						c.(1009-1011)taC>taT		dipeptidyl-peptidase 3							165	168	167					11																	66259193		2200	4295	6495	SO:0001819	synonymous_variant	10072				proteolysis	cytoplasm	aminopeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity	g.chr11:66259193C>T	AB017970	CCDS8141.1, CCDS58147.1	11q12-q13.1	2008-02-05	2006-01-12		ENSG00000254986	ENSG00000254986	3.4.14.4		3008	protein-coding gene	gene with protein product		606818	"dipeptidylpeptidase III", "dipeptidylpeptidase 3"			10773679	Standard	NM_005700		Approved		uc001oif.2	Q9NY33	OTTHUMG00000167143	ENST00000360510.2:c.954C>T	11.37:g.66259193C>T						DPP3_ENST00000541961.1_Silent_p.Y318Y|DPP3_ENST00000531863.1_Silent_p.Y338Y|DPP3_ENST00000360510.2_Silent_p.Y318Y|DPP3_ENST00000530165.1_Silent_p.Y288Y|DPP3_ENST00000453114.1_Silent_p.Y318Y	p.Y337Y	NM_001256670.1|NM_005700.4|NM_130443.3	NP_001243599.1|NP_005691.2|NP_569710.2	Q9NY33	DPP3_HUMAN			9	1412	+			318					B2RDB5|B4DLX4|F5H8L6|O95748|Q969H2|Q9BV67|Q9HAL6	Silent	SNP	ENST00000360510.2	37	c.1011C>T	CCDS8141.1																																																																																				0.612	DPP3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393424.2			6	390	0	0	0	0.02938	0	6	390					T	66259193	C	T	66259193	2	4	12	1	0	0	0	0	0	0	0	1	4728	518	18	3		3	DPP3	11	66259193	Silent	SNP	C	TCGA-CH-5737-01A-11D-1576-08	1135530	66259193	68747323	66	458											
KRTAP5-11	440051	broad.mit.edu	37	chr11	71293806	71293806	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagccacagcccccacagccAgagccacagcccccactgcc	10	1	8	22	0	0	1	0	0	0	1	0	2	0	1	8	0	6	0	8	0	0	0			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr11:71293806A>T	ENST00000398530.1	-	1	115	c.78T>A	c.(76-78)tcT>tcA	p.S26S	KRTAP5-11_ENST00000526239.1_Intron|AP000867.1_ENST00000343767.3_Intron	NM_001005405.2	NP_001005405.1	Q6L8G4	KR511_HUMAN	keratin associated protein 5-11	26						keratin filament (GO:0045095)		p.S26S(1)		endometrium(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						CCCCACAGCCAGAGCCACAGC	0.637																																						ENST00000398530.1																			1	Substitution - coding silent(1)	p.S26S(1)	prostate(1)	endometrium(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						c.(76-78)tcT>tcA		keratin associated protein 5-11							38	53	48					11																	71293806		2197	4281	6478	SO:0001819	synonymous_variant	440051					keratin filament		g.chr11:71293806A>T	AB126080	CCDS41685.1	11q13.4	2008-11-06			ENSG00000204571	ENSG00000204571		"Keratin associated proteins"	23606	protein-coding gene	gene with protein product						15144888	Standard	NM_001005405		Approved	KRTAP5.11, KRTAP5-6	uc001oqu.3	Q6L8G4	OTTHUMG00000057586	ENST00000398530.1:c.78T>A	11.37:g.71293806A>T						AP000867.1_ENST00000343767.3_Intron|KRTAP5-11_ENST00000526239.1_Intron	p.S26S	NM_001005405.2	NP_001005405.1	Q6L8G4	KR511_HUMAN			1	115	-			26						Silent	SNP	ENST00000398530.1	37	c.78T>A	CCDS41685.1																																																																																				0.637	KRTAP5-11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127969.1	NM_001005405		8	32	0	0	0	0.105934	0	8	32					T	71293806	A	T	71293806	2	4	12	1	0	0	0	0	0	0	0	1	8560	175	7	5		5	KRTAP5-11	11	71293806	Silent	SNP	A	TCGA-CH-5737-01A-11D-1576-08	5034613	71293806	63712710	67	459											
DYNC2H1	79659	broad.mit.edu	37	chr11	103090670	103090670	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtgagcaaaaaacagaactTgaaagactgaagcacagaat	21	5	9	6	0	0	6	0	3	0	3	0	6	0	6	0	0	4	2	0	0	7	1			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr11:103090670T>G	ENST00000375735.2	+	56	9003	c.8859T>G	c.(8857-8859)ctT>ctG	p.L2953L	DYNC2H1_ENST00000334267.7_Intron|DYNC2H1_ENST00000398093.3_Silent_p.L2953L	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	2953	Stalk. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|asymmetric protein localization (GO:0008105)|cilium assembly (GO:0042384)|determination of left/right symmetry (GO:0007368)|dorsal/ventral pattern formation (GO:0009953)|embryonic limb morphogenesis (GO:0030326)|forebrain development (GO:0030900)|Golgi organization (GO:0007030)|intraciliary retrograde transport (GO:0035721)|positive regulation of smoothened signaling pathway (GO:0045880)|protein processing (GO:0016485)|spinal cord motor neuron differentiation (GO:0021522)	apical part of cell (GO:0045177)|axoneme (GO:0005930)|cytosol (GO:0005829)|dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|motile primary cilium (GO:0031512)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)	p.L386L(1)		NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		AAACAGAACTTGAAAGACTGA	0.259																																						ENST00000375735.2																			1	Substitution - coding silent(1)	p.L386L(1)	prostate(1)	NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33						c.(8857-8859)ctT>ctG		dynein, cytoplasmic 2, heavy chain 1							43	41	41					11																	103090670		1786	4044	5830	SO:0001819	synonymous_variant	79659				cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development	cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity	g.chr11:103090670T>G	AB082528	CCDS44717.1, CCDS53701.1	11q21-q22.1	2011-06-02	2005-11-24	2005-11-24	ENSG00000187240	ENSG00000187240		"Cytoplasmic dyneins"	2962	protein-coding gene	gene with protein product		603297	"dynein, cytoplasmic, heavy polypeptide 2"	DNCH2		9763680, 9373155	Standard	NM_001080463		Approved	hdhc11, DHC2, DHC1b, DYH1B	uc001phn.1	Q8NCM8	OTTHUMG00000165941	ENST00000375735.2:c.8859T>G	11.37:g.103090670T>G						DYNC2H1_ENST00000398093.3_Silent_p.L2953L|DYNC2H1_ENST00000334267.7_Intron	p.L2953L	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)	56	9003	+		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)	2953			Stalk (By similarity).		O00432|Q16693|Q3C1U8|Q4AC93|Q6ZMX7|Q6ZUM6|Q7Z363|Q8N977|Q92815|Q9HAE4	Silent	SNP	ENST00000375735.2	37	c.8859T>G	CCDS53701.1																																																																																				0.259	DYNC2H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387196.1	XM_370652		3	8	0	0	0	0.115264	0	3	8					G	103090670	T	G	103090670	2	3	12	1	0	0	0	0	0	0	0	1	4846	1799	63	5		5	DYNC2H1	11	103090670	Silent	SNP	T	TCGA-CH-5737-01A-11D-1576-08	31796864	103090670	31915846	68	460											
ATM	472	broad.mit.edu	37	chr11	108205768	108205768	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagaatttcgcttagcaggaGgtgtaaatttaccaaaaata	16	11	8	6	1	0	1	0	0	0	1	1	2	0	2	1	2	2	3	1	2	8	6			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr11:108205768G>A	ENST00000452508.2	+	56	8272	c.8083G>A	c.(8083-8085)Ggt>Agt	p.G2695S	C11orf65_ENST00000525729.1_Intron|ATM_ENST00000278616.4_Missense_Mutation_p.G2695S			Q13315	ATM_HUMAN	ATM serine/threonine kinase	2695			G -> A (in T-prolymphocytic leukemia and B-cell chronic lymphocytic leukemia). {ECO:0000269|PubMed:10023947, ECO:0000269|PubMed:9288106}.		brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|DNA damage induced protein phosphorylation (GO:0006975)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|heart development (GO:0007507)|histone mRNA catabolic process (GO:0071044)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|lipoprotein catabolic process (GO:0042159)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of B cell proliferation (GO:0030889)|neuron apoptotic process (GO:0051402)|oocyte development (GO:0048599)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of neuron apoptotic process (GO:0043525)|pre-B cell allelic exclusion (GO:0002331)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reciprocal meiotic recombination (GO:0007131)|replicative senescence (GO:0090399)|response to hypoxia (GO:0001666)|response to ionizing radiation (GO:0010212)|signal transduction (GO:0007165)|signal transduction involved in mitotic G2 DNA damage checkpoint (GO:0072434)|somitogenesis (GO:0001756)|telomere maintenance (GO:0000723)	cytoplasmic vesicle (GO:0031410)|nucleoplasm (GO:0005654)|spindle (GO:0005819)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|histone serine kinase activity (GO:0035174)|protein complex binding (GO:0032403)|protein dimerization activity (GO:0046983)|protein N-terminus binding (GO:0047485)|protein serine/threonine kinase activity (GO:0004674)	p.G2695S(4)|p.G2695C(2)		NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	Caffeine(DB00201)	CTTAGCAGGAGGTGTAAATTT	0.398			"D, Mis, N, F, S"		T-PLL	"leukemia, lymphoma, medulloblastoma, glioma"		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)																												ENST00000278616.4			yes	Rec	yes	Ataxia-telangiectasia	11	11q22.3	472	"D, Mis, N, F, S"	ataxia telangiectasia mutated			"L, O"		"leukemia, lymphoma, medulloblastoma, glioma"	T-PLL		6	Substitution - Missense(6)	p.G2695S(4)|p.G2695C(2)	lung(4)|prostate(2)	NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448						c.(8083-8085)Ggt>Agt	Genes defective in diseases associated with sensitivity to DNA damaging agents	ataxia telangiectasia mutated							101	100	100					11																	108205768		2201	4298	6499	SO:0001583	missense	472	Ataxia Telangiectasia	Familial Cancer Database	AT, Louis-Bar syndrome	cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding	g.chr11:108205768G>A	AB209133	CCDS31669.1	11q22-q23	2014-09-17	2014-06-17		ENSG00000149311	ENSG00000149311			795	protein-coding gene	gene with protein product	"TEL1, telomere maintenance 1, homolog (S. cerevisiae)"	607585	"ataxia telangiectasia mutated (includes complementation groups A, C and D)", "ataxia telangiectasia mutated"	ATA, ATDC, ATC, ATD			Standard	XM_005271561		Approved	TEL1, TELO1	uc001pkb.1	Q13315	OTTHUMG00000166480	ENST00000452508.2:c.8083G>A	11.37:g.108205768G>A	ENSP00000388058:p.Gly2695Ser	TSP Lung(14;0.12)				ATM_ENST00000452508.2_Missense_Mutation_p.G2695S|C11orf65_ENST00000525729.1_Intron	p.G2695S	NM_000051.3	NP_000042.3	Q13315	ATM_HUMAN		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	55	8468	+		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)	2695		G -> A (in T-prolymphocytic leukemia and B-cell chronic lymphocytic leukemia).			B2RNX5|O15429|Q12758|Q16551|Q93007|Q9NP02|Q9UCX7	Missense_Mutation	SNP	ENST00000452508.2	37	c.8083G>A	CCDS31669.1	.	.	.	.	.	.	.	.	.	.	G	36	5.908021	0.97093	.	.	ENSG00000149311	ENST00000278616;ENST00000452508	D;D	0.94232	-3.38;-3.38	5.67	5.67	0.87782	Protein kinase-like domain (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.94696	0.8289	L	0.31065	0.9	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.94347	0.7576	10	0.44086	T	0.13	.	19.7775	0.96400	0.0:0.0:1.0:0.0	.	2695	Q13315	ATM_HUMAN	S	2695	ENSP00000278616:G2695S;ENSP00000388058:G2695S	ENSP00000278616:G2695S	G	+	1	0	ATM	107710978	1.000000	0.71417	0.991000	0.47740	0.995000	0.86356	9.107000	0.94261	2.680000	0.91292	0.655000	0.94253	GGT		0.398	ATM-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389938.1	NM_000051		28	185	0	0	0	0.108266	0	28	185					A	108205768	G	A	108205768	3	1	12	1	0	0	0	0	1	0	0	0	1109	1000	35	3	8297	3	ATM	11	108205768	Missense_Mutation	SNP	G	TCGA-CH-5737-01A-11D-1576-08	5115098	108205768	26800748	69	461											
SLC4A8	9498	broad.mit.edu	37	chr12	51883662	51883662	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcccaagttcctgggcatccGagaacagagagtgacaggcc	11	5	13	12	1	0	3	0	1	0	2	2	5	2	3	4	2	1	2	4	2	2	1			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr12:51883662G>A	ENST00000453097.2	+	19	2844	c.2627G>A	c.(2626-2628)cGa>cAa	p.R876Q	SLC4A8_ENST00000358657.3_Missense_Mutation_p.R903Q	NM_001039960.2|NM_001258401.2	NP_001035049.1|NP_001245330.1			solute carrier family 4, sodium bicarbonate cotransporter, member 8											NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(18)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(2)|urinary_tract(5)	55				BRCA - Breast invasive adenocarcinoma(357;0.15)		CTGGGCATCCGAGAACAGAGA	0.473																																						ENST00000453097.2																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(18)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(2)|urinary_tract(5)	55						c.(2626-2628)cGa>cAa		solute carrier family 4, sodium bicarbonate cotransporter, member 8							143	132	136					12																	51883662		2203	4300	6503	SO:0001583	missense	9498				bicarbonate transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity	g.chr12:51883662G>A	AB018282	CCDS44890.1, CCDS58232.1, CCDS58233.1, CCDS73470.1	12q13.13	2013-05-22			ENSG00000050438	ENSG00000050438		"Solute carriers"	11034	protein-coding gene	gene with protein product		605024				11133997	Standard	NM_001039960		Approved	NBC3	uc001rys.2	Q2Y0W8	OTTHUMG00000169489	ENST00000453097.2:c.2627G>A	12.37:g.51883662G>A	ENSP00000405812:p.Arg876Gln					SLC4A8_ENST00000358657.3_Missense_Mutation_p.R903Q	p.R876Q	NM_001039960.2|NM_001258401.2	NP_001035049.1|NP_001245330.1	Q2Y0W8	S4A8_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.15)	19	2844	+			876						Missense_Mutation	SNP	ENST00000453097.2	37	c.2627G>A	CCDS44890.1	.	.	.	.	.	.	.	.	.	.	G	19.09	3.760873	0.69763	.	.	ENSG00000050438	ENST00000358657;ENST00000453097;ENST00000319957;ENST00000551071	T;T	0.81163	-1.46;-1.46	5.17	5.17	0.71159	Bicarbonate transporter, C-terminal (1);	0.061232	0.64402	D	0.000003	D	0.84065	0.5390	M	0.69358	2.11	0.80722	D	1	P;P;P	0.49783	0.812;0.928;0.912	B;P;P	0.48921	0.261;0.595;0.538	D	0.86326	0.1695	10	0.72032	D	0.01	.	17.8274	0.88669	0.0:0.0:1.0:0.0	.	903;876;876	Q2Y0W8-2;Q2Y0W8;Q2Y0W8-3	.;S4A8_HUMAN;.	Q	903;876;876;823	ENSP00000351483:R903Q;ENSP00000405812:R876Q	ENSP00000315789:R876Q	R	+	2	0	SLC4A8	50169929	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	7.984000	0.88150	2.574000	0.86865	0.491000	0.48974	CGA		0.473	SLC4A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404356.1	NM_004858		5	329	0	0	0	0.021553	0	5	329					A	51883662	G	A	51883662	3	1	12	1	0	0	0	0	1	0	0	0	14659	1058	37	2	2701	2	SLC4A8	12	51883662	Missense_Mutation	SNP	G	TCGA-CH-5737-01A-11D-1576-08		51883662	81968233	70	462											
KIF5A	3798	broad.mit.edu	37	chr12	57962799	57962799	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gacgaggcaaagaatatcaaCaagtcactgtcagctctggg	14	7	11	9	1	4	1	3	0	1	1	4	3	4	1	0	2	2	2	0	2	5	1			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr12:57962799C>T	ENST00000455537.2	+	9	1042	c.768C>T	c.(766-768)aaC>aaT	p.N256N	KIF5A_ENST00000286452.5_Silent_p.N167N	NM_004984.2	NP_004975.2	Q12840	KIF5A_HUMAN	kinesin family member 5A	256	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.|Microtubule-binding.		Missing (in SPG10). {ECO:0000269|PubMed:18245137}.|N -> S (in SPG10; slightly decreases microtubule affinity; reduces gliding velocity; reduces microtubule-dependent ATP turnover). {ECO:0000269|PubMed:12355402}.		antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell death (GO:0008219)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|protein localization (GO:0008104)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|motor activity (GO:0003774)|plus-end-directed microtubule motor activity (GO:0008574)	p.N256N(1)		breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(32)|ovary(2)|prostate(2)|skin(2)	62						AGAATATCAACAAGTCACTGT	0.557																																						ENST00000455537.2																			1	Substitution - coding silent(1)	p.N256N(1)	prostate(1)	breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(32)|ovary(2)|prostate(2)|skin(2)	62	GRCh37	CD083326	KIF5A	D		c.(766-768)aaC>aaT		kinesin family member 5A							179	131	148					12																	57962799		2203	4300	6503	SO:0001819	synonymous_variant	3798				blood coagulation|cell death|microtubule-based movement|synaptic transmission	cytosol|kinesin complex|membrane fraction|microtubule|perinuclear region of cytoplasm	ATP binding|microtubule motor activity	g.chr12:57962799C>T	U06698	CCDS8945.1	12q13.13	2011-07-15	2004-02-13			ENSG00000155980		"Kinesins"	6323	protein-coding gene	gene with protein product		602821	"spastic paraplegia 10 (autosomal dominant)"	SPG10		9858832, 10441583, 16489470	Standard	NM_004984		Approved	D12S1889, NKHC, MY050	uc001sor.1	Q12840	OTTHUMG00000170143	ENST00000455537.2:c.768C>T	12.37:g.57962799C>T						KIF5A_ENST00000286452.5_Silent_p.N167N	p.N256N	NM_004984.2	NP_004975.2	Q12840	KIF5A_HUMAN			9	1042	+			256		Missing (in SPG10).|N -> S (in SPG10; slightly decreases microtubule affinity; reduces gliding velocity; reduces microtubule-dependent ATP turnover).	Kinesin-motor.|Microtubule-binding.		A6H8M5|Q4LE26	Silent	SNP	ENST00000455537.2	37	c.768C>T	CCDS8945.1																																																																																				0.557	KIF5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407634.1	NM_004984		16	97	0	0	0	0.160694	0	16	97					T	57962799	C	T	57962799	2	4	12	1	0	0	0	0	0	0	0	1	8305	477	17	3		3	KIF5A	12	57962799	Silent	SNP	C	TCGA-CH-5737-01A-11D-1576-08	6079137	57962799	75889096	71	463											
HELB	92797	broad.mit.edu	37	chr12	66696411	66696411	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtcgagtccgtacctgcgcCaacttcagggacctctgctc	6	9	11	15	3	2	0	1	0	1	0	5	2	3	1	4	2	4	2	4	2	2	2			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr12:66696411C>A	ENST00000247815.4	+	1	87	c.28C>A	c.(28-30)Caa>Aaa	p.Q10K		NM_033647.3	NP_387467.2	Q8NG08	HELB_HUMAN	helicase (DNA) B	10					DNA duplex unwinding (GO:0032508)|DNA replication (GO:0006260)|DNA replication, synthesis of RNA primer (GO:0006269)		ATP binding (GO:0005524)|ATP-dependent 5'-3' DNA helicase activity (GO:0043141)|single-stranded DNA-dependent ATP-dependent DNA helicase activity (GO:0017116)	p.Q10K(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	40			GBM - Glioblastoma multiforme(2;0.000142)	GBM - Glioblastoma multiforme(28;0.0265)		GTACCTGCGCCAACTTCAGGG	0.557																																						ENST00000247815.4																			1	Substitution - Missense(1)	p.Q10K(1)	prostate(1)	autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	40						c.(28-30)Caa>Aaa		helicase (DNA) B							79	74	76					12																	66696411		2203	4300	6503	SO:0001583	missense	92797				DNA replication, synthesis of RNA primer		ATP binding|ATP-dependent 5'-3' DNA helicase activity|single-stranded DNA-dependent ATP-dependent DNA helicase activity	g.chr12:66696411C>A	AF319995	CCDS8976.1	12q14.2	2009-01-15			ENSG00000127311	ENSG00000127311			17196	protein-coding gene	gene with protein product		614539				12181327	Standard	NM_033647		Approved		uc001sti.3	Q8NG08	OTTHUMG00000169006	ENST00000247815.4:c.28C>A	12.37:g.66696411C>A	ENSP00000247815:p.Gln10Lys						p.Q10K	NM_033647.3	NP_387467.2	Q8NG08	HELB_HUMAN	GBM - Glioblastoma multiforme(2;0.000142)	GBM - Glioblastoma multiforme(28;0.0265)	1	87	+			10					A8K4C9|Q4G0T2|Q9H7L5	Missense_Mutation	SNP	ENST00000247815.4	37	c.28C>A	CCDS8976.1	.	.	.	.	.	.	.	.	.	.	C	12.44	1.939323	0.34189	.	.	ENSG00000127311	ENST00000247815	T	0.10860	2.83	4.95	0.645	0.17782	.	0.873151	0.10155	N	0.709133	T	0.08714	0.0216	N	0.22421	0.69	0.09310	N	1	B	0.15930	0.015	B	0.12156	0.007	T	0.37407	-0.9707	9	.	.	.	-5.3572	15.5468	0.76108	0.0:0.6877:0.3123:0.0	.	10	Q8NG08	HELB_HUMAN	K	10	ENSP00000247815:Q10K	.	Q	+	1	0	HELB	64982678	0.001000	0.12720	0.000000	0.03702	0.002000	0.02628	0.649000	0.24843	0.007000	0.14760	-0.311000	0.09066	CAA		0.557	HELB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401919.1			6	116	1	0	5.18039e-06	0.038147	5.91428e-06	6	116					A	66696411	C	A	66696411	3	1	12	1	0	0	0	0	1	0	0	0	7045	595	21	5	30	5	HELB	12	66696411	Missense_Mutation	SNP	C	TCGA-CH-5737-01A-11D-1576-08	8733612	66696411	67155484	72	464											
RNF31	55072	broad.mit.edu	37	chr14	24621084	24621085	+	Frame_Shift_Del	DEL	GA	GA	-																															ctgctgcaggagacacccagGaactatgagttgggggatgt																										TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr14:24621084_24621085delGA	ENST00000324103.6	+	11	2333_2334	c.2013_2014delGA	c.(2011-2016)aggaacfs	p.N672fs	RNF31_ENST00000382687.3_Frame_Shift_Del_p.N521fs|RP11-468E2.4_ENST00000558468.1_Frame_Shift_Del_p.N147fs|RNF31_ENST00000559275.1_Frame_Shift_Del_p.N521fs	NM_017999.4	NP_060469.4	Q96EP0	RNF31_HUMAN	ring finger protein 31	672					CD40 signaling pathway (GO:0023035)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein linear polyubiquitination (GO:0097039)|protein polyubiquitination (GO:0000209)|T cell receptor signaling pathway (GO:0050852)	CD40 receptor complex (GO:0035631)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|LUBAC complex (GO:0071797)	ligase activity (GO:0016874)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|prostate(4)|skin(2)|soft_tissue(1)	39				GBM - Glioblastoma multiforme(265;0.00861)		AGACACCCAGGAACTATGAGTT	0.634																																						ENST00000558468.1																			0											c.(436-441)agacfs																																						SO:0001589	frameshift_variant	0							g.chr14:24621084_24621085delGA	AK000973	CCDS41931.1	14q11.2	2012-09-20			ENSG00000092098	ENSG00000092098		"RING-type (C3HC4) zinc fingers"	16031	protein-coding gene	gene with protein product	"HOIL-1-interacting protein"	612487				10422847	Standard	NM_017999		Approved	ZIBRA, FLJ10111, FLJ23501, HOIP	uc001wmn.1	Q96EP0	OTTHUMG00000028798	ENST00000324103.6:c.2013_2014delGA	14.37:g.24621084_24621085delGA	ENSP00000315112:p.Asn672fs					RNF31_ENST00000559275.1_Frame_Shift_Del_p.RN520fs|RNF31_ENST00000382687.3_Frame_Shift_Del_p.RN520fs|RNF31_ENST00000324103.6_Frame_Shift_Del_p.RN671fs	p.RN146fs							3	438_439	+								A0A962|Q86VI2|Q8TEI0|Q96GB4|Q96NF1|Q9H5F1|Q9NWD2	Frame_Shift_Del	DEL	ENST00000324103.6	37	c.438_439delGA	CCDS41931.1																																																																																				0.634	RNF31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071921.3	NM_017999		29	213						29	213	---	---	---	---	-	24621085	GA	-	24621084	7	5	12	1	0	1	0	1	0	0	0	0	13487	1165	41	0	2055	0	RNF31	14	24621084	Frame_Shift_Del	DEL	GA	TCGA-CH-5737-01A-11D-1576-08		24621084	82728456	73	465											
GZMH	2999	broad.mit.edu	37	chr14	25076555	25076555	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctggcttcacctgggcctTgctgctaggtagcctgagag	5	10	13	13	0	1	1	1	1	0	1	1	2	1	1	4	3	3	4	4	3	2	4	rs144759599		TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr14:25076555T>G	ENST00000216338.4	-	4	441	c.397A>C	c.(397-399)Aag>Cag	p.K133Q	GZMH_ENST00000382548.4_Intron|RP11-104E19.1_ENST00000557736.1_RNA|GZMH_ENST00000557220.2_Intron|RP11-104E19.1_ENST00000555300.1_RNA	NM_033423.4	NP_219491.1	P20718	GRAH_HUMAN	granzyme H (cathepsin G-like 2, protein h-CCPX)	133	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				apoptotic process (GO:0006915)|cytolysis (GO:0019835)	membrane (GO:0016020)	serine-type endopeptidase activity (GO:0004252)	p.K133Q(1)		central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)	12				GBM - Glioblastoma multiforme(265;0.0267)		ACCTGGGCCTTGCTGCTAGGT	0.572																																						ENST00000216338.4																			1	Substitution - Missense(1)	p.K133Q(1)	prostate(1)	central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)	12						c.(397-399)Aag>Cag		granzyme H (cathepsin G-like 2, protein h-CCPX)							60	57	58					14																	25076555		2203	4300	6503	SO:0001583	missense	2999				apoptosis|cytolysis|proteolysis	cytoplasm	serine-type endopeptidase activity	g.chr14:25076555T>G	M72150	CCDS9632.1, CCDS59243.1	14q11.2	2003-10-20			ENSG00000100450	ENSG00000100450			4710	protein-coding gene	gene with protein product		116831		CTSGL2		2049336	Standard	NM_033423		Approved	CGL-2, CCP-X, CTLA1, CSP-C	uc001wpr.2	P20718	OTTHUMG00000140185	ENST00000216338.4:c.397A>C	14.37:g.25076555T>G	ENSP00000216338:p.Lys133Gln					GZMH_ENST00000557220.2_Intron|GZMH_ENST00000382548.4_Intron|RP11-104E19.1_ENST00000555300.1_RNA|RP11-104E19.1_ENST00000557736.1_RNA	p.K133Q	NM_033423.3	NP_219491.1	P20718	GRAH_HUMAN		GBM - Glioblastoma multiforme(265;0.0267)	4	441	-			133			Peptidase S1.		G3V2C5|Q6XGZ0|Q6XGZ1	Missense_Mutation	SNP	ENST00000216338.4	37	c.397A>C	CCDS9632.1	.	.	.	.	.	.	.	.	.	.	t	1.568	-0.534802	0.04082	.	.	ENSG00000100450	ENST00000216338	D	0.88818	-2.43	4.74	-9.47	0.00594	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	.	.	.	.	T	0.69895	0.3162	N	0.17594	0.5	0.09310	N	1	B	0.14012	0.009	B	0.11329	0.006	T	0.56547	-0.7961	9	0.10902	T	0.67	.	2.4012	0.04401	0.2559:0.2831:0.3442:0.1169	.	133	P20718	GRAH_HUMAN	Q	133	ENSP00000216338:K133Q	ENSP00000216338:K133Q	K	-	1	0	GZMH	24146395	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.508000	0.02266	-3.697000	0.00119	0.533000	0.62120	AAG		0.572	GZMH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276538.2	NM_033423		7	116	0	0	0	0.069234	0	7	116					G	25076555	T	G	25076555	3	3	12	1	0	0	0	0	1	0	0	0	6917	1821	63	5	351	5	GZMH	14	25076555	Missense_Mutation	SNP	T	TCGA-CH-5737-01A-11D-1576-08	455471	25076555	82272985	74	466											
G2E3	55632	broad.mit.edu	37	chr14	31066642	31066642	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtaggttcaagcaataaatgCgggagtgtttttctttaggt	10	15	12	4	1	2	0	1	0	1	0	2	1	2	1	0	3	2	4	0	3	6	7			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr14:31066642C>T	ENST00000206595.6	+	7	699	c.545C>T	c.(544-546)gCg>gTg	p.A182V	G2E3_ENST00000544007.1_3'UTR|G2E3_ENST00000553504.1_Missense_Mutation_p.A212V|G2E3_ENST00000438909.2_Missense_Mutation_p.A136V	NM_017769.3	NP_060239.2	Q7L622	G2E3_HUMAN	G2/M-phase specific E3 ubiquitin protein ligase	182					apoptotic process (GO:0006915)|blastocyst development (GO:0001824)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|protein polyubiquitination (GO:0000209)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.A182V(1)		endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	23						GCAATAAATGCGGGAGTGTTT	0.313																																						ENST00000206595.6																			1	Substitution - Missense(1)	p.A182V(1)	prostate(1)	endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	23						c.(544-546)gCg>gTg		G2/M-phase specific E3 ubiquitin protein ligase							147	164	158					14																	31066642		2203	4299	6502	SO:0001583	missense	55632				apoptosis|multicellular organismal development|protein modification process	Golgi apparatus|nucleolus	acid-amino acid ligase activity|protein binding|zinc ion binding	g.chr14:31066642C>T	AK000340	CCDS9638.1	14q12	2013-01-28	2010-09-17	2009-02-03	ENSG00000092140	ENSG00000092140		"Zinc fingers, PHD-type"	20338	protein-coding gene	gene with protein product	"PHD finger protein 7B"	611299	"KIAA1333"	KIAA1333		18511420, 17239372	Standard	NM_017769		Approved	FLJ20333, PHF7B	uc001wqk.2	Q7L622	OTTHUMG00000140204	ENST00000206595.6:c.545C>T	14.37:g.31066642C>T	ENSP00000206595:p.Ala182Val					G2E3_ENST00000544007.1_3'UTR|G2E3_ENST00000438909.2_Missense_Mutation_p.A136V|G2E3_ENST00000553504.1_Missense_Mutation_p.A212V	p.A182V	NM_017769.3	NP_060239.2	Q7L622	G2E3_HUMAN			7	699	+			182					Q9BVR2|Q9H9E9|Q9NXC0|Q9P2L3	Missense_Mutation	SNP	ENST00000206595.6	37	c.545C>T	CCDS9638.1	.	.	.	.	.	.	.	.	.	.	C	33	5.216967	0.95104	.	.	ENSG00000092140	ENST00000206595;ENST00000438909;ENST00000553504	T;T;T	0.62941	-0.01;-0.01;-0.01	5.67	5.67	0.87782	Zinc finger, RING-type (1);Zinc finger, PHD-type (1);	0.000000	0.85682	D	0.000000	D	0.82591	0.5070	M	0.86178	2.8	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.934;0.996	D	0.83933	0.0307	10	0.66056	D	0.02	-16.4834	20.1169	0.97940	0.0:1.0:0.0:0.0	.	136;182	B4DIF9;Q7L622	.;G2E3_HUMAN	V	182;136;212	ENSP00000206595:A182V;ENSP00000391068:A136V;ENSP00000451653:A212V	ENSP00000206595:A182V	A	+	2	0	G2E3	30136393	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.774000	0.75012	2.835000	0.97688	0.591000	0.81541	GCG		0.313	G2E3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276613.2	NM_017769		9	380	0	0	0	0.058154	0	9	380					T	31066642	C	T	31066642	3	4	12	1	0	0	0	0	1	0	0	0	6140	768	27	1	567	1	G2E3	14	31066642	Missense_Mutation	SNP	C	TCGA-CH-5737-01A-11D-1576-08	5990087	31066642	76282898	75	467											
FOXA1	3169	broad.mit.edu	37	chr14	38061220	38061225	+	In_Frame_Del	DEL	CGTTCT	CGTTCT	-																															ctggcggcgcaagtagcagcCgttctcgaacatgttgccgg																										TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr14:38061220_38061225delCGTTCT	ENST00000250448.2	-	2	825_830	c.764_769delAGAACG	c.(763-771)gagaacggc>ggc	p.EN255del	FOXA1_ENST00000540786.1_In_Frame_Del_p.EN222del|FOXA1_ENST00000545425.2_5'UTR	NM_004496.3	NP_004487.2	P55317	FOXA1_HUMAN	forkhead box A1	255					anatomical structure formation involved in morphogenesis (GO:0048646)|chromatin remodeling (GO:0006338)|dorsal/ventral neural tube patterning (GO:0021904)|epithelial cell maturation involved in prostate gland development (GO:0060743)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|epithelial-mesenchymal signaling involved in prostate gland development (GO:0060738)|glucose homeostasis (GO:0042593)|hormone metabolic process (GO:0042445)|lung epithelial cell differentiation (GO:0060487)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron fate specification (GO:0048665)|positive regulation of cell-cell adhesion mediated by cadherin (GO:2000049)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prostate gland epithelium morphogenesis (GO:0060740)|prostate gland stromal morphogenesis (GO:0060741)|response to estradiol (GO:0032355)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)	microvillus (GO:0005902)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|endometrium(1)|large_intestine(2)|lung(3)|prostate(12)	19	Breast(36;0.0954)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		Lung(238;5.41e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0454)|LUSC - Lung squamous cell carcinoma(13;0.0917)|all cancers(34;0.0925)|BRCA - Breast invasive adenocarcinoma(188;0.239)	GBM - Glioblastoma multiforme(112;0.0222)		AAGTAGCAGCCGTTCTCGAACATGTT	0.694																																						ENST00000250448.2																			0				breast(1)|endometrium(1)|large_intestine(2)|lung(3)|prostate(12)	19						c.(763-771)ggc>g		forkhead box A1																																				SO:0001651	inframe_deletion	3169				chromatin remodeling|embryo development|epithelial cell maturation involved in prostate gland development|epithelial tube branching involved in lung morphogenesis|epithelial-mesenchymal signaling involved in prostate gland development|glucose homeostasis|lung epithelial cell differentiation|negative regulation of survival gene product expression|neuron fate specification|pattern specification process|positive regulation of estrogen receptor signaling pathway|positive regulation of mitotic cell cycle|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|prostate gland epithelium morphogenesis|prostate gland stromal morphogenesis|response to estradiol stimulus|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development	transcription factor complex	DNA bending activity|double-stranded DNA binding|protein domain specific binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding	g.chr14:38061220_38061225delCGTTCT	U39840	CCDS9665.1	14q12-q13	2008-04-10		2002-09-20	ENSG00000129514	ENSG00000129514		"Forkhead boxes"	5021	protein-coding gene	gene with protein product		602294	"hepatocyte nuclear factor 3, alpha"	HNF3A		9119385, 8652662	Standard	NM_004496		Approved		uc001wuf.4	P55317	OTTHUMG00000140253	ENST00000250448.2:c.764_769delAGAACG	14.37:g.38061220_38061225delCGTTCT	ENSP00000250448:p.Glu255_Asn256del					FOXA1_ENST00000540786.1_In_Frame_Del_p.ENG222del|FOXA1_ENST00000545425.2_5'UTR	p.ENG255del	NM_004496.3	NP_004487.2	P55317	FOXA1_HUMAN	Lung(238;5.41e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0454)|LUSC - Lung squamous cell carcinoma(13;0.0917)|all cancers(34;0.0925)|BRCA - Breast invasive adenocarcinoma(188;0.239)	GBM - Glioblastoma multiforme(112;0.0222)	2	825_830	-	Breast(36;0.0954)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		255					B2R9H6|B7ZAP5|Q9H2A0	In_Frame_Del	DEL	ENST00000250448.2	37	c.764_769delAGAACG	CCDS9665.1																																																																																				0.694	FOXA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276735.1			12	24						12	24	---	---	---	---	-	38061225	CGTTCT	-	38061220	7	5	12	1	0	1	0	1	0	0	0	0	5989	652	23	0	653	0	FOXA1	14	38061220	In_Frame_Del	DEL	CGTTCT	TCGA-CH-5737-01A-11D-1576-08	6994578	38061220	69288320	76	468											
OTX2	5015	broad.mit.edu	37	chr14	57268617	57268617	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tccctgggtggaaagagaagCtggggactgattgagatggc	10	8	17	6	0	0	3	0	2	0	2	1	7	1	5	1	5	1	1	1	5	2	1			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr14:57268617C>G	ENST00000555006.1	-	4	1114	c.706G>C	c.(706-708)Gct>Cct	p.A236P	OTX2_ENST00000554788.1_3'UTR|OTX2_ENST00000339475.5_Missense_Mutation_p.A244P|RP11-1085N6.6_ENST00000602485.1_lincRNA|OTX2_ENST00000408990.3_Missense_Mutation_p.A236P			P32243	OTX2_HUMAN	orthodenticle homeobox 2	236					axon guidance (GO:0007411)|cell fate specification (GO:0001708)|diencephalon morphogenesis (GO:0048852)|dorsal/ventral pattern formation (GO:0009953)|endoderm development (GO:0007492)|eye photoreceptor cell fate commitment (GO:0042706)|forebrain development (GO:0030900)|inner ear morphogenesis (GO:0042472)|metencephalon development (GO:0022037)|midbrain development (GO:0030901)|neuron fate determination (GO:0048664)|positive regulation of embryonic development (GO:0040019)|positive regulation of gastrulation (GO:2000543)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|primitive streak formation (GO:0090009)|protein complex assembly (GO:0006461)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|regulation of smoothened signaling pathway (GO:0008589)|somite rostral/caudal axis specification (GO:0032525)	cytoplasm (GO:0005737)|growth cone (GO:0030426)|nucleus (GO:0005634)|protein complex (GO:0043234)	eukaryotic initiation factor 4E binding (GO:0008190)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)	p.A244P(1)		central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	19	Medulloblastoma(1;0.00184)|all_neural(1;0.00414)					GAAAGAGAAGCTGGGGACTGA	0.502																																						ENST00000339475.5																			1	Substitution - Missense(1)	p.A244P(1)	prostate(1)	central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	19						c.(730-732)Gct>Cct		orthodenticle homeobox 2							122	117	119					14																	57268617		2203	4300	6503	SO:0001583	missense	5015				axon guidance|forebrain development|midbrain development|positive regulation of embryonic development|positive regulation of gastrulation|primitive streak formation|protein complex assembly|regulation of fibroblast growth factor receptor signaling pathway|regulation of smoothened signaling pathway	growth cone|nucleus|protein complex	eukaryotic initiation factor 4E binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding	g.chr14:57268617C>G	AF298117	CCDS9728.1, CCDS41960.1	14q22.3	2014-09-17	2007-02-15		ENSG00000165588	ENSG00000165588		"Homeoboxes / PRD class"	8522	protein-coding gene	gene with protein product		600037	"orthodenticle homolog 2 (Drosophila)"			7959790	Standard	NM_021728		Approved		uc031qor.1	P32243	OTTHUMG00000152338	ENST00000555006.1:c.706G>C	14.37:g.57268617C>G	ENSP00000452336:p.Ala236Pro					OTX2_ENST00000554788.1_3'UTR|OTX2_ENST00000408990.3_Missense_Mutation_p.A236P|OTX2_ENST00000555006.1_Missense_Mutation_p.A236P	p.A244P	NM_001270523.1|NM_001270524.1|NM_001270525.1|NM_021728.3	NP_001257452.1|NP_001257453.1|NP_001257454.1|NP_068374.1	P32243	OTX2_HUMAN			5	1006	-	Medulloblastoma(1;0.00184)|all_neural(1;0.00414)		236					B2RAN5|Q6GTV3|Q9HAW3|Q9P2R1	Missense_Mutation	SNP	ENST00000555006.1	37	c.730G>C	CCDS41960.1	.	.	.	.	.	.	.	.	.	.	C	10.09	1.254381	0.22965	.	.	ENSG00000165588	ENST00000339475;ENST00000408990;ENST00000555006	D;D;D	0.90069	-2.61;-2.6;-2.6	5.65	4.76	0.60689	.	0.146283	0.31612	N	0.007343	D	0.86372	0.5917	M	0.65975	2.015	0.80722	D	1	B;B	0.12630	0.003;0.006	B;B	0.15484	0.004;0.013	T	0.81634	-0.0844	10	0.15066	T	0.55	.	13.6808	0.62484	0.0:0.9268:0.0:0.0732	.	244;236	F1T0D1;P32243	.;OTX2_HUMAN	P	244;236;236	ENSP00000343819:A244P;ENSP00000386185:A236P;ENSP00000452336:A236P	ENSP00000343819:A244P	A	-	1	0	OTX2	56338370	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.868000	0.69605	1.616000	0.50265	0.655000	0.94253	GCT		0.502	OTX2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411522.1	NM_021728.		66	128	0	0	0	0.139131	0	66	128					G	57268617	C	G	57268617	3	3	12	1	0	0	0	0	1	0	0	0	11321	797	28	5	167	5	OTX2	14	57268617	Missense_Mutation	SNP	C	TCGA-CH-5737-01A-11D-1576-08	19207397	57268617	50080923	77	469											
RYR3	6263	broad.mit.edu	37	chr15	33990173	33990173	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtgatggaggtgatggtgaaCgtgttgggtacagagaaatc	11	10	17	3	1	0	4	0	3	0	1	1	6	0	5	0	4	2	2	0	4	3	2			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr15:33990173C>T	ENST00000389232.4	+	40	6295	c.6225C>T	c.(6223-6225)aaC>aaT	p.N2075N	RYR3_ENST00000415757.3_Silent_p.N2075N	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	2075	4 X approximate repeats.				calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)	p.N2075N(2)		NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		TGATGGTGAACGTGTTGGGTA	0.493																																						ENST00000389232.4																			2	Substitution - coding silent(2)	p.N2075N(2)	prostate(2)	NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311						c.(6223-6225)aaC>aaT		ryanodine receptor 3							197	191	193					15																	33990173		2087	4239	6326	SO:0001819	synonymous_variant	6263				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr15:33990173C>T		CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"Ion channels / Ryanodine receptors", "EF-hand domain containing"	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.6225C>T	15.37:g.33990173C>T						RYR3_ENST00000415757.3_Silent_p.N2075N	p.N2075N	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)	40	6295	+		all_lung(180;7.18e-09)	2075			4 X approximate repeats.		O15175|Q15412	Silent	SNP	ENST00000389232.4	37	c.6225C>T	CCDS45210.1																																																																																				0.493	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1			47	212	0	0	0	0.139131	0	47	212					T	33990173	C	T	33990173	2	4	12	1	0	0	0	0	0	0	0	1	13770	535	19	1		1	RYR3	15	33990173	Silent	SNP	C	TCGA-CH-5737-01A-11D-1576-08		33990173	68541219	78	470											
TLN2	83660	broad.mit.edu	37	chr15	62978869	62978869	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaggcaagaacaagctggtGcctcgcctgctggggatcac	11	6	13	11	1	1	1	1	0	0	1	2	2	1	2	2	4	4	3	2	4	4	0	rs369934703		TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr15:62978869G>T	ENST00000561311.1	+	11	1217	c.987G>T	c.(985-987)gtG>gtT	p.V329V	RP11-625H11.2_ENST00000559589.1_RNA|TLN2_ENST00000306829.6_Silent_p.V329V			Q9Y4G6	TLN2_HUMAN	talin 2	329	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.|Interaction with PIP5K1C. {ECO:0000250}.				cell adhesion (GO:0007155)|cell-cell junction assembly (GO:0007043)|cytoskeletal anchoring at plasma membrane (GO:0007016)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|synapse (GO:0045202)	actin binding (GO:0003779)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)	p.V329V(1)		NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						ACAAGCTGGTGCCTCGCCTGC	0.537																																						ENST00000561311.1																			1	Substitution - coding silent(1)	p.V329V(1)	prostate(1)	NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						c.(985-987)gtG>gtT		talin 2		G		0,4406		0,0,2203	57	47	50		987	1.6	1	15		50	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	TLN2	NM_015059.2		0,1,6502	TT,TG,GG		0.0116,0.0,0.0077		329/2543	62978869	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	83660				cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane	actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse	actin binding|insulin receptor binding|structural constituent of cytoskeleton	g.chr15:62978869G>T	AB002318	CCDS32261.1	15q15-q21	2008-07-03			ENSG00000171914	ENSG00000171914			15447	protein-coding gene	gene with protein product		607349				9205841, 11527381	Standard	NM_015059		Approved	KIAA0320, ILWEQ	uc002alb.4	Q9Y4G6	OTTHUMG00000133679	ENST00000561311.1:c.987G>T	15.37:g.62978869G>T						RP11-625H11.2_ENST00000559589.1_RNA|TLN2_ENST00000306829.6_Silent_p.V329V	p.V329V			Q9Y4G6	TLN2_HUMAN			11	1217	+			329			FERM.|Interaction with PIP5K1C (By similarity).		A6NLB8	Silent	SNP	ENST00000561311.1	37	c.987G>T	CCDS32261.1																																																																																				0.537	TLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257878.2			12	31	1	0	2.80697e-09	0.080935	3.2868e-09	12	31					T	62978869	G	T	62978869	2	4	12	1	0	0	0	0	0	0	0	1	15945	1306	46	5		5	TLN2	15	62978869	Silent	SNP	G	TCGA-CH-5737-01A-11D-1576-08	28988696	62978869	39552523	79	471											
LRRK1	79705	broad.mit.edu	37	chr15	101593153	101593153	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctggagaacagcaagctggAgcacagcgaggacgagggca	13	2	16	10	2	0	1	0	0	0	1	0	6	0	3	1	4	5	4	1	4	2	0			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr15:101593153A>G	ENST00000388948.3	+	25	4075	c.3716A>G	c.(3715-3717)gAg>gGg	p.E1239G	RP11-505E24.2_ENST00000559857.1_RNA|LRRK1_ENST00000284395.5_Missense_Mutation_p.E1236G	NM_024652.3	NP_078928.3			leucine-rich repeat kinase 1									p.E1239G(1)|p.E1251G(1)		breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			AGCAAGCTGGAGCACAGCGAG	0.692																																						ENST00000284395.5																			2	Substitution - Missense(2)	p.E1239G(1)|p.E1251G(1)	prostate(2)	breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72						c.(3706-3708)gAg>gGg		leucine-rich repeat kinase 1							26	36	33					15																	101593153		2183	4284	6467	SO:0001583	missense	79705				small GTPase mediated signal transduction	mitochondrion	ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr15:101593153A>G	AB058693	CCDS42086.1	15q26.3	2007-01-29			ENSG00000154237	ENSG00000154237			18608	protein-coding gene	gene with protein product		610986				11347906, 14654223	Standard	XM_005254979		Approved	FLJ23119, KIAA1790, Roco1, RIPK6	uc002bwr.3	Q38SD2	OTTHUMG00000165514	ENST00000388948.3:c.3716A>G	15.37:g.101593153A>G	ENSP00000373600:p.Glu1239Gly					RP11-505E24.2_ENST00000559857.1_RNA|LRRK1_ENST00000388948.3_Missense_Mutation_p.E1239G	p.E1236G			Q38SD2	LRRK1_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)		26	4107	+	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		1239						Missense_Mutation	SNP	ENST00000388948.3	37	c.3707A>G	CCDS42086.1	.	.	.	.	.	.	.	.	.	.	A	18.61	3.661640	0.67700	.	.	ENSG00000154237	ENST00000388948;ENST00000284395	D;D	0.93247	-3.19;-3.19	5.08	3.93	0.45458	Protein kinase-like domain (1);	0.289069	0.37304	N	0.002144	D	0.88760	0.6524	L	0.29908	0.895	0.45777	D	0.998665	B	0.30851	0.297	B	0.33890	0.172	D	0.86107	0.1560	10	0.72032	D	0.01	.	10.9923	0.47557	0.8496:0.0:0.0:0.1504	.	1239	Q38SD2	LRRK1_HUMAN	G	1239;1236	ENSP00000373600:E1239G;ENSP00000284395:E1236G	ENSP00000284395:E1236G	E	+	2	0	LRRK1	99410676	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	7.201000	0.77847	0.837000	0.34925	0.524000	0.50904	GAG		0.692	LRRK1-003	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384567.2	NM_024652		3	60	0	0	0	0.115264	0	3	60					G	101593153	A	G	101593153	3	3	12	1	0	0	0	0	1	0	0	0	9032	304	11	4	3810	4	LRRK1	15	101593153	Missense_Mutation	SNP	A	TCGA-CH-5737-01A-11D-1576-08	38614284	101593153	938239	80	472											
OR2C1	4993	broad.mit.edu	37	chr16	3406160	3406160	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cctccttggaccttgctttcGctactagttcagtcccccaa	6	13	6	16	1	1	0	1	0	0	0	4	1	3	1	5	1	2	3	5	1	3	6	rs188328730		TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr16:3406160G>A	ENST00000304936.2	+	1	272	c.220G>A	c.(220-222)Gct>Act	p.A74T		NM_012368.2	NP_036500.2	O95371	OR2C1_HUMAN	olfactory receptor, family 2, subfamily C, member 1	74					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)	cell cortex (GO:0005938)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A74T(1)		kidney(1)|large_intestine(2)|liver(1)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						CCTTGCTTTCGCTACTAGTTC	0.522													A|||	1	0.000199681	0	0.0014	5008	,	,		20862	0		0	False		,,,				2504	0					ENST00000304936.2																			1	Substitution - Missense(1)	p.A74T(1)	prostate(1)	kidney(1)|large_intestine(2)|liver(1)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						c.(220-222)Gct>Act		olfactory receptor, family 2, subfamily C, member 1							136	116	123					16																	3406160		2197	4300	6497	SO:0001583	missense	4993				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr16:3406160G>A	AF098664	CCDS10502.1	16p13.3	2012-08-09			ENSG00000168158	ENSG00000168158		"GPCR / Class A : Olfactory receptors"	8242	protein-coding gene	gene with protein product				OR2C2P		9847080	Standard	NM_012368		Approved	OLFmf3	uc002cuw.1	O95371	OTTHUMG00000090505	ENST00000304936.2:c.220G>A	16.37:g.3406160G>A	ENSP00000307726:p.Ala74Thr						p.A74T	NM_012368.2	NP_036500.2	O95371	OR2C1_HUMAN			1	272	+			74					A0AVA4|Q6IF34|Q6IF55	Missense_Mutation	SNP	ENST00000304936.2	37	c.220G>A	CCDS10502.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	a	0.006	-2.045777	0.00398	.	.	ENSG00000168158	ENST00000304936	T	0.00433	7.43	4.35	4.35	0.52113	GPCR, rhodopsin-like superfamily (1);	0.000000	0.41712	N	0.000839	T	0.00073	0.0002	N	0.00076	-2.245	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.36040	-0.9764	10	0.02654	T	1	.	8.1157	0.30942	0.9024:0.0:0.0976:0.0	.	74	O95371	OR2C1_HUMAN	T	74	ENSP00000307726:A74T	ENSP00000307726:A74T	A	+	1	0	OR2C1	3346161	0.001000	0.12720	0.610000	0.28997	0.310000	0.27922	1.008000	0.29872	0.707000	0.31934	-0.746000	0.03513	GCT		0.522	OR2C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206993.3			40	297	0	0	0	0.086207	0	40	297					A	3406160	G	A	3406160	3	1	12	1	0	0	0	0	1	0	0	0	10992	1087	38	1	222	1	OR2C1	16	3406160	Missense_Mutation	SNP	G	TCGA-CH-5737-01A-11D-1576-08		3406160	86948593	81	473											
BTBD12	84464	broad.mit.edu	37	chr16	3640681	3640681	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tctccctgagttgatgagaaGagctgttcgtaatccccggc	8	11	11	11	2	1	4	0	3	1	2	4	5	2	4	3	1	1	4	3	1	2	3	rs148111699		TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr16:3640681G>A	ENST00000294008.3	-	12	3598	c.2958C>T	c.(2956-2958)ctC>ctT	p.L986L		NM_032444.2	NP_115820.2	Q8IY92	SLX4_HUMAN	SLX4 structure-specific endonuclease subunit	986	Interaction with PLK1 and TERF2-TERF2IP.				DNA catabolic process, endonucleolytic (GO:0000737)|DNA double-strand break processing involved in repair via single-strand annealing (GO:0010792)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|double-strand break repair via homologous recombination (GO:0000724)|nucleotide-excision repair (GO:0006289)|positive regulation of catalytic activity (GO:0043085)|response to intra-S DNA damage checkpoint signaling (GO:0072429)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|Slx1-Slx4 complex (GO:0033557)	5'-flap endonuclease activity (GO:0017108)|enzyme activator activity (GO:0008047)	p.L986L(1)		breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	76						TTGATGAGAAGAGCTGTTCGT	0.557								Direct reversal of damage																														ENST00000294008.3																			1	Substitution - coding silent(1)	p.L986L(1)	prostate(1)	breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	76						c.(2956-2958)ctC>ctT	Direct reversal of damage	SLX4 structure-specific endonuclease subunit							82	82	82					16																	3640681		2197	4300	6497	SO:0001819	synonymous_variant	84464				DNA double-strand break processing involved in repair via single-strand annealing|double-strand break repair via homologous recombination|nucleotide-excision repair	Slx1-Slx4 complex	enzyme activator activity|protein binding	g.chr16:3640681G>A	AB058687	CCDS10506.2	16p13.3	2014-09-17	2013-06-05	2010-09-13	ENSG00000188827	ENSG00000188827		"Fanconi anemia, complementation groups", "BTB/POZ domain containing"	23845	protein-coding gene	gene with protein product	"Fanconi anemia, complementation group P"	613278	"BTB (POZ) domain containing 12", "SLX4 structure-specific endonuclease subunit homolog (S. cerevisiae)"	BTBD12		11347906, 19595721	Standard	NM_032444		Approved	KIAA1784, KIAA1987, FANCP	uc002cvp.2	Q8IY92	OTTHUMG00000074089	ENST00000294008.3:c.2958C>T	16.37:g.3640681G>A							p.L986L	NM_032444.2	NP_115820.2	Q8IY92	SLX4_HUMAN			12	3598	-			986			Interaction with PLK1 and TERF2-TERF2IP.		Q69YT8|Q8TF15|Q96JP1	Silent	SNP	ENST00000294008.3	37	c.2958C>T	CCDS10506.2																																																																																				0.557	SLX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157301.3	NM_032444		7	180	0	0	0	0.058154	0	7	180					A	3640681	G	A	3640681	2	1	12	1	0	0	0	0	0	0	0	1	1540	929	33	3		3	BTBD12	16	3640681	Silent	SNP	G	TCGA-CH-5737-01A-11D-1576-08	234521	3640681	86714072	82	474											
SMG1	23049	broad.mit.edu	37	chr16	18866183	18866183	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctagcaaattttgctgctgtTagacctaattccatgagatg	11	14	8	8	0	0	2	0	1	0	2	1	3	1	2	2	0	3	4	2	0	4	6			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr16:18866183T>C	ENST00000446231.2	-	30	4690	c.4278A>G	c.(4276-4278)ctA>ctG	p.L1426L	SMG1_ENST00000389467.3_Silent_p.L1426L			Q96Q15	SMG1_HUMAN	SMG1 phosphatidylinositol 3-kinase-related kinase	1426	FAT. {ECO:0000255|PROSITE- ProRule:PRU00534}.|Interaction with SMG8 and SMG9.				DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol phosphorylation (GO:0046854)|protein autophosphorylation (GO:0046777)|response to stress (GO:0006950)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						TTGCTGCTGTTAGACCTAATT	0.438																																						ENST00000446231.2																			0				NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						c.(4276-4278)ctA>ctG		SMG1 phosphatidylinositol 3-kinase-related kinase							142	133	136					16																	18866183		1908	4130	6038	SO:0001819	synonymous_variant	23049				DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation	cytoplasm|nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr16:18866183T>C	AB061371	CCDS45430.1	16p12.3	2013-07-02	2013-07-02		ENSG00000157106	ENSG00000157106			30045	protein-coding gene	gene with protein product	"phosphatidylinositol 3-kinase-related kinase"	607032	"smg-1 homolog, phosphatidylinositol 3-kinase-related kinase (C. elegans)"			9455477, 11331269, 17229728	Standard	NM_015092		Approved	LIP, KIAA0421, ATX	uc002dfm.3	Q96Q15	OTTHUMG00000166900	ENST00000446231.2:c.4278A>G	16.37:g.18866183T>C						SMG1_ENST00000389467.3_Silent_p.L1426L	p.L1426L			Q96Q15	SMG1_HUMAN			30	4690	-			1426			FAT.|Interaction with SMG8 and SMG9.		O43305|Q13284|Q8NFX2|Q96QV0|Q96RW3	Silent	SNP	ENST00000446231.2	37	c.4278A>G	CCDS45430.1																																																																																				0.438	SMG1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000391817.1	NM_015092		6	257	0	0	0	0.021553	0	6	257					C	18866183	T	C	18866183	2	2	12	1	0	0	0	0	0	0	0	1	14795	1741	61	4		4	SMG1	16	18866183	Silent	SNP	T	TCGA-CH-5737-01A-11D-1576-08	15225502	18866183	71488570	83	475											
PDILT	204474	broad.mit.edu	37	chr16	20370791	20370791	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcatgttctccagctcaggCgactgctgttcaggtaaccc	7	11	10	13	1	4	0	3	0	1	0	5	1	4	0	2	2	3	5	2	2	1	3	rs376390632		TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr16:20370791C>T	ENST00000302451.4	-	12	1853	c.1605G>A	c.(1603-1605)tcG>tcA	p.S535S		NM_174924.1	NP_777584.1	Q8N807	PDILT_HUMAN	protein disulfide isomerase-like, testis expressed	535					cell migration (GO:0016477)|cell redox homeostasis (GO:0045454)|multicellular organismal development (GO:0007275)|protein folding (GO:0006457)|spermatid development (GO:0007286)	endoplasmic reticulum (GO:0005783)	protein disulfide isomerase activity (GO:0003756)	p.S535S(1)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(33)|prostate(3)|skin(1)|urinary_tract(1)	61						CCAGCTCAGGCGACTGCTGTT	0.502													c|||	1	0.000199681	8e-04	0	5008	,	,		17697	0		0	False		,,,				2504	0					ENST00000302451.4																			1	Substitution - coding silent(1)	p.S535S(1)	prostate(1)	breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(33)|prostate(3)|skin(1)|urinary_tract(1)	61						c.(1603-1605)tcG>tcA		protein disulfide isomerase-like, testis expressed							233	201	212					16																	20370791		2203	4300	6503	SO:0001819	synonymous_variant	204474				cell differentiation|cell redox homeostasis|multicellular organismal development|spermatogenesis	endoplasmic reticulum	isomerase activity	g.chr16:20370791C>T		CCDS10584.1	16p12.3	2011-11-10	2009-02-23		ENSG00000169340	ENSG00000169340		"Protein disulfide isomerases"	27338	protein-coding gene	gene with protein product	"protein disulfide isomerase family A, member 7", "protein disulfide isomerase-like protein of the testis"					15475357	Standard	NM_174924		Approved	PDIA7	uc002dhc.1	Q8N807	OTTHUMG00000131487	ENST00000302451.4:c.1605G>A	16.37:g.20370791C>T							p.S535S	NM_174924.1	NP_777584.1	Q8N807	PDILT_HUMAN			12	1853	-			535					Q8IVQ5	Silent	SNP	ENST00000302451.4	37	c.1605G>A	CCDS10584.1																																																																																				0.502	PDILT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254332.1	NM_174924		12	468	0	0	0	0.062417	0	12	468					T	20370791	C	T	20370791	2	4	12	1	0	0	0	0	0	0	0	1	11674	755	27	1		1	PDILT	16	20370791	Silent	SNP	C	TCGA-CH-5737-01A-11D-1576-08	1504608	20370791	69983962	84	476											
GNAO1	2775	broad.mit.edu	37	chr16	56362633	56362633	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttctgccatgatgcggctcTggggcgactcaggaatccaa	8	10	12	11	2	3	1	1	1	2	0	4	3	4	2	2	4	2	1	2	4	2	1			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr16:56362633T>C	ENST00000262493.6	+	4	1240	c.394T>C	c.(394-396)Tgg>Cgg	p.W132R	GNAO1_ENST00000262494.7_Missense_Mutation_p.W132R	NM_020988.2	NP_066268.1	P09471	GNAO_HUMAN	guanine nucleotide binding protein (G protein), alpha activating activity polypeptide O	132					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|aging (GO:0007568)|dopamine receptor signaling pathway (GO:0007212)|forebrain development (GO:0030900)|locomotory behavior (GO:0007626)|muscle contraction (GO:0006936)|negative regulation of calcium ion transport (GO:0051926)|neuron projection development (GO:0031175)|positive regulation of GTPase activity (GO:0043547)|regulation of heart contraction (GO:0008016)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to hydrogen peroxide (GO:0042542)|response to morphine (GO:0043278)	heterotrimeric G-protein complex (GO:0005834)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	corticotropin-releasing hormone receptor 1 binding (GO:0051430)|G-protein beta/gamma-subunit complex binding (GO:0031683)|G-protein coupled serotonin receptor binding (GO:0031821)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|mu-type opioid receptor binding (GO:0031852)|signal transducer activity (GO:0004871)	p.W132R(3)		breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(4)|prostate(1)	17		all_neural(199;0.159)				GATGCGGCTCTGGGGCGACTC	0.587																																						ENST00000262494.7																			3	Substitution - Missense(3)	p.W132R(3)	prostate(3)	breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(4)|prostate(1)	17						c.(394-396)Tgg>Cgg		guanine nucleotide binding protein (G protein), alpha activating activity polypeptide O							88	80	83					16																	56362633		2198	4300	6498	SO:0001583	missense	2775				dopamine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|muscle contraction	heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|metabotropic serotonin receptor binding|signal transducer activity	g.chr16:56362633T>C		CCDS10756.1, CCDS10757.1	16q13	2008-08-01			ENSG00000087258	ENSG00000087258			4389	protein-coding gene	gene with protein product		139311				1899283, 11395521	Standard	NM_020988		Approved	G-ALPHA-o	uc002eit.4	P09471	OTTHUMG00000133241	ENST00000262493.6:c.394T>C	16.37:g.56362633T>C	ENSP00000262493:p.Trp132Arg					GNAO1_ENST00000262493.6_Missense_Mutation_p.W132R	p.W132R	NM_138736.2	NP_620073.2	P09471	GNAO_HUMAN			4	654	+		all_neural(199;0.159)	132					P29777|Q8TD72|Q9UMV4	Missense_Mutation	SNP	ENST00000262493.6	37	c.394T>C	CCDS10756.1	.	.	.	.	.	.	.	.	.	.	T	22.5	4.303420	0.81136	.	.	ENSG00000087258	ENST00000262493;ENST00000262494	D;D	0.93659	-3.26;-3.26	4.95	4.95	0.65309	G protein alpha subunit, helical insertion (2);	0.000000	0.85682	D	0.000000	D	0.98147	0.9388	H	0.98786	4.33	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.997	D	0.99517	1.0957	10	0.87932	D	0	.	14.6119	0.68522	0.0:0.0:0.0:1.0	.	132;132	P09471;P09471-2	GNAO_HUMAN;.	R	132	ENSP00000262493:W132R;ENSP00000262494:W132R	ENSP00000262493:W132R	W	+	1	0	GNAO1	54920134	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.040000	0.89188	1.846000	0.53633	0.379000	0.24179	TGG		0.587	GNAO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256981.2	NM_020988		16	91	0	0	0	0.132662	0	16	91					C	56362633	T	C	56362633	3	2	12	1	0	0	0	0	1	0	0	0	6508	1580	55	4	408	4	GNAO1	16	56362633	Missense_Mutation	SNP	T	TCGA-CH-5737-01A-11D-1576-08	35991842	56362633	33992120	85	477											
DPEP1	1800	broad.mit.edu	37	chr16	89703762	89703762	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtgcgcaagccggcgcaacGtgcctgacgacgtcctgagg	7	6	15	13	6	0	2	0	2	0	0	1	3	1	2	3	2	4	2	3	2	2	0			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr16:89703762G>A	ENST00000393092.3	+	7	1033	c.742G>A	c.(742-744)Gtg>Atg	p.V248M	DPEP1_ENST00000261615.4_Missense_Mutation_p.V248M|DPEP1_ENST00000421184.1_Missense_Mutation_p.V248M	NM_004413.3	NP_004404.1	P16444	DPEP1_HUMAN	dipeptidase 1 (renal)	248					antibiotic metabolic process (GO:0016999)|arachidonic acid metabolic process (GO:0019369)|cellular lactam catabolic process (GO:0072340)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|cellular response to nitric oxide (GO:0071732)|glutathione metabolic process (GO:0006749)|homocysteine metabolic process (GO:0050667)|leukotriene metabolic process (GO:0006691)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell migration (GO:0030336)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|apical part of cell (GO:0045177)|cell projection (GO:0042995)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|dipeptidyl-peptidase activity (GO:0008239)|GPI anchor binding (GO:0034235)|metallodipeptidase activity (GO:0070573)|metalloexopeptidase activity (GO:0008235)|modified amino acid binding (GO:0072341)|zinc ion binding (GO:0008270)	p.V248M(1)		large_intestine(2)|lung(10)|prostate(1)|urinary_tract(1)	14		all_lung(18;0.0054)|all_hematologic(23;0.094)		BRCA - Breast invasive adenocarcinoma(80;0.0258)	Cilastatin(DB01597)	CCGGCGCAACGTGCCTGACGA	0.682																																						ENST00000393092.3																			1	Substitution - Missense(1)	p.V248M(1)	prostate(1)	large_intestine(2)|lung(10)|prostate(1)|urinary_tract(1)	14						c.(742-744)Gtg>Atg		dipeptidase 1 (renal)	Cilastatin(DB01597)						49	45	47					16																	89703762		2190	4287	6477	SO:0001583	missense	1800				proteolysis	anchored to membrane|apical plasma membrane|microvillus membrane	dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metalloexopeptidase activity|protein binding	g.chr16:89703762G>A		CCDS10982.1	16q24	2011-07-22			ENSG00000015413	ENSG00000015413	3.4.13.19		3002	protein-coding gene	gene with protein product		179780					Standard	NM_004413		Approved		uc002fnr.4	P16444	OTTHUMG00000138052	ENST00000393092.3:c.742G>A	16.37:g.89703762G>A	ENSP00000376807:p.Val248Met					DPEP1_ENST00000261615.4_Missense_Mutation_p.V248M|DPEP1_ENST00000421184.1_Missense_Mutation_p.V248M	p.V248M	NM_004413.3	NP_004404.1	P16444	DPEP1_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0258)	7	1033	+		all_lung(18;0.0054)|all_hematologic(23;0.094)	248					D3DX80|Q96AK2	Missense_Mutation	SNP	ENST00000393092.3	37	c.742G>A	CCDS10982.1	.	.	.	.	.	.	.	.	.	.	G	18.78	3.697458	0.68386	.	.	ENSG00000015413	ENST00000421184;ENST00000393092;ENST00000261615	T;T;T	0.25414	1.8;1.8;1.8	5.12	5.12	0.69794	.	0.000000	0.85682	D	0.000000	T	0.50854	0.1640	M	0.79123	2.44	0.80722	D	1	D	0.69078	0.997	P	0.60068	0.868	T	0.57423	-0.7814	10	0.87932	D	0	-7.3445	18.5466	0.91048	0.0:0.0:1.0:0.0	.	248	P16444	DPEP1_HUMAN	M	248	ENSP00000397313:V248M;ENSP00000376807:V248M;ENSP00000261615:V248M	ENSP00000261615:V248M	V	+	1	0	DPEP1	88231263	1.000000	0.71417	1.000000	0.80357	0.050000	0.14768	7.613000	0.82986	2.389000	0.81357	0.491000	0.48974	GTG		0.682	DPEP1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000423058.1	NM_001128141		3	42	0	0	0	0.150653	0	3	42					A	89703762	G	A	89703762	3	1	12	1	0	0	0	0	1	0	0	0	4713	1145	40	1	764	1	DPEP1	16	89703762	Missense_Mutation	SNP	G	TCGA-CH-5737-01A-11D-1576-08	33341129	89703762	650991	86	478											
KCNH4	23415	broad.mit.edu	37	chr17	40328219	40328219	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggataaggccgtcccagaTggccttggagacgctgtagt	9	8	15	9	2	0	2	0	0	0	2	1	5	1	3	3	4	0	2	3	4	2	3			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr17:40328219T>G	ENST00000264661.3	-	5	1014	c.682A>C	c.(682-684)Atc>Ctc	p.I228L	KCNH4_ENST00000607371.1_Missense_Mutation_p.I228L	NM_012285.2	NP_036417.1	Q9UQ05	KCNH4_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 4	228					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|urinary_tract(1)	32		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.126)		CCGTCCCAGATGGCCTTGGAG	0.592																																					NSCLC(117;707 1703 2300 21308 31858)	ENST00000264661.3																			0				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|urinary_tract(1)	32						c.(682-684)Atc>Ctc		potassium voltage-gated channel, subfamily H (eag-related), member 4							134	115	121					17																	40328219		2203	4300	6503	SO:0001583	missense	23415				regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	two-component sensor activity|voltage-gated potassium channel activity	g.chr17:40328219T>G	AB022698	CCDS11420.1	17q21	2012-07-05				ENSG00000089558		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6253	protein-coding gene	gene with protein product		604528				10455180, 16382104	Standard	NM_012285		Approved	Kv12.3, elk1	uc002hzb.2	Q9UQ05		ENST00000264661.3:c.682A>C	17.37:g.40328219T>G	ENSP00000264661:p.Ile228Leu					KCNH4_ENST00000607371.1_Missense_Mutation_p.I228L	p.I228L	NM_012285.2	NP_036417.1	Q9UQ05	KCNH4_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.126)	5	1014	-		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)	228						Missense_Mutation	SNP	ENST00000264661.3	37	c.682A>C	CCDS11420.1	.	.	.	.	.	.	.	.	.	.	T	9.939	1.216876	0.22373	.	.	ENSG00000089558	ENST00000264661	D	0.97256	-4.31	5.45	-2.25	0.06888	.	0.452778	0.16327	N	0.219286	D	0.89301	0.6676	N	0.10874	0.06	0.09310	N	0.999999	B	0.02656	0.0	B	0.01281	0.0	T	0.80872	-0.1188	10	0.27785	T	0.31	.	7.6269	0.28218	0.0:0.4207:0.1524:0.4269	.	228	Q9UQ05	KCNH4_HUMAN	L	228	ENSP00000264661:I228L	ENSP00000264661:I228L	I	-	1	0	KCNH4	37581745	0.000000	0.05858	0.092000	0.20876	0.997000	0.91878	-0.659000	0.05323	-0.145000	0.11294	0.533000	0.62120	ATC		0.592	KCNH4-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449791.2	NM_012285		3	230	0	0	0	0.115264	0	3	230					G	40328219	T	G	40328219	3	3	12	1	0	0	0	0	1	0	0	0	8034	1464	51	5	2419	5	KCNH4	17	40328219	Missense_Mutation	SNP	T	TCGA-CH-5737-01A-11D-1576-08		40328219	40866991	87	479											
SKAP1	8631	broad.mit.edu	37	chr17	46262165	46262165	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcgcaggtggggggccatccGtacaccgtagcccttaatga	8	8	13	12	3	0	1	0	1	0	0	2	1	1	1	4	4	2	3	4	4	3	3	rs573034197		TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr17:46262165G>A	ENST00000336915.6	-	7	556	c.487C>T	c.(487-489)Cgg>Tgg	p.R163W	RP11-456D7.1_ENST00000582246.1_RNA|SKAP1_ENST00000584924.1_Missense_Mutation_p.R163W	NM_001075099.1|NM_003726.3	NP_001068567.1|NP_003717.3	Q86WV1	SKAP1_HUMAN	src kinase associated phosphoprotein 1	163	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				positive regulation of signal transduction (GO:0009967)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|T cell receptor signaling pathway (GO:0050852)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|SH2 domain binding (GO:0042169)|SH3 domain binding (GO:0017124)|SH3/SH2 adaptor activity (GO:0005070)	p.R163W(1)		large_intestine(1)|lung(10)|prostate(2)|skin(4)|urinary_tract(1)	18						GGGGCCATCCGTACACCGTAG	0.542																																						ENST00000336915.6																			1	Substitution - Missense(1)	p.R163W(1)	prostate(1)	large_intestine(1)|lung(10)|prostate(2)|skin(4)|urinary_tract(1)	18						c.(487-489)Cgg>Tgg		src kinase associated phosphoprotein 1							125	106	112					17																	46262165		2203	4300	6503	SO:0001583	missense	8631				positive regulation of transcription from RNA polymerase II promoter|T cell receptor signaling pathway	cytoplasm|nucleus|plasma membrane	antigen binding|protein kinase binding|SH2 domain binding	g.chr17:46262165G>A	Y11215	CCDS32674.1	17q21.32	2013-01-10	2006-09-28	2006-09-28		ENSG00000141293		"Pleckstrin homology (PH) domain containing"	15605	protein-coding gene	gene with protein product		604969	"src family associated phosphoprotein 1"	SCAP1		9195899	Standard	NM_003726		Approved	SKAP55	uc002ini.1	Q86WV1		ENST00000336915.6:c.487C>T	17.37:g.46262165G>A	ENSP00000338171:p.Arg163Trp					SKAP1_ENST00000584924.1_Missense_Mutation_p.R163W	p.R163W	NM_001075099.1|NM_003726.3	NP_001068567.1|NP_003717.3	Q86WV1	SKAP1_HUMAN			7	556	-			163			PH.		D3DTV1|O15268	Missense_Mutation	SNP	ENST00000336915.6	37	c.487C>T	CCDS32674.1	.	.	.	.	.	.	.	.	.	.	G	23.3	4.396557	0.83011	.	.	ENSG00000141293	ENST00000336915	T	0.77489	-1.1	5.37	5.37	0.77165	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.211232	0.41194	D	0.000939	D	0.86781	0.6015	M	0.67397	2.05	0.45046	D	0.998066	D;D	0.89917	1.0;1.0	P;D	0.65443	0.863;0.935	D	0.87835	0.2647	10	0.72032	D	0.01	-53.9291	18.7013	0.91621	0.0:0.0:1.0:0.0	.	163;163	Q86WV1-2;Q86WV1	.;SKAP1_HUMAN	W	163	ENSP00000338171:R163W	ENSP00000338171:R163W	R	-	1	2	SKAP1	43617164	1.000000	0.71417	0.982000	0.44146	0.912000	0.54170	3.289000	0.51747	2.509000	0.84616	0.557000	0.71058	CGG		0.542	SKAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443432.1	NM_003726		29	165	0	0	0	0.163468	0	29	165					A	46262165	G	A	46262165	3	1	12	1	0	0	0	0	1	0	0	0	14355	1144	40	1	616	1	SKAP1	17	46262165	Missense_Mutation	SNP	G	TCGA-CH-5737-01A-11D-1576-08	5933946	46262165	34933045	88	480											
KIF2B	84643	broad.mit.edu	37	chr17	51900688	51900688	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cccccgcccttatcccccttGgctctggcgccctcttcggc	1	10	8	22	3	2	0	0	0	2	0	4	0	3	0	6	3	0	1	6	3	1	3			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr17:51900688G>T	ENST00000268919.4	+	1	450	c.294G>T	c.(292-294)ttG>ttT	p.L98F		NM_032559.4	NP_115948.4	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	98					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|regulation of chromosome segregation (GO:0051983)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.L98F(1)		NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						TATCCCCCTTGGCTCTGGCGC	0.587																																						ENST00000268919.4																			1	Substitution - Missense(1)	p.L98F(1)	prostate(1)	NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						c.(292-294)ttG>ttT		kinesin family member 2B							97	107	104					17																	51900688		2203	4300	6503	SO:0001583	missense	84643				blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity	g.chr17:51900688G>T	AF333335	CCDS32685.1	17q22	2014-08-12			ENSG00000141200	ENSG00000141200		"Kinesins"	29443	protein-coding gene	gene with protein product		615142				11416179	Standard	NM_032559		Approved		uc002iua.2	Q8N4N8	OTTHUMG00000177756	ENST00000268919.4:c.294G>T	17.37:g.51900688G>T	ENSP00000268919:p.Leu98Phe						p.L98F	NM_032559.4	NP_115948.4	Q8N4N8	KIF2B_HUMAN			1	450	+			98					Q96MA2|Q9BXG6	Missense_Mutation	SNP	ENST00000268919.4	37	c.294G>T	CCDS32685.1	.	.	.	.	.	.	.	.	.	.	G	0.013	-1.633253	0.00806	.	.	ENSG00000141200	ENST00000268919;ENST00000416491	T	0.74002	-0.8	4.83	1.62	0.23740	.	2.684090	0.01932	N	0.041318	T	0.56470	0.1987	N	0.14661	0.345	0.09310	N	1	B	0.14012	0.009	B	0.11329	0.006	T	0.43015	-0.9417	10	0.10902	T	0.67	.	5.7492	0.18138	0.0926:0.0:0.5429:0.3645	.	98	Q8N4N8	KIF2B_HUMAN	F	98;21	ENSP00000268919:L98F	ENSP00000268919:L98F	L	+	3	2	KIF2B	49255687	0.002000	0.14202	0.000000	0.03702	0.001000	0.01503	0.724000	0.25954	0.276000	0.22118	-0.244000	0.11960	TTG		0.587	KIF2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438854.1	NM_032559		6	260	1	0	0.00198382	0.02938	0.00215701	6	260					T	51900688	G	T	51900688	3	4	12	1	0	0	0	0	1	0	0	0	8298	1339	47	5	296	5	KIF2B	17	51900688	Missense_Mutation	SNP	G	TCGA-CH-5737-01A-11D-1576-08	5638523	51900688	29294522	89	481											
TRIM25	7706	broad.mit.edu	37	chr17	54969322	54969322	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acgcaccaggaggcgctgttGcggccgagcctgctttctgg	5	8	15	13	4	1	0	0	0	1	0	1	2	1	1	3	4	3	4	3	4	0	2			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr17:54969322G>A	ENST00000316881.4	-	9	1681	c.1632C>T	c.(1630-1632)cgC>cgT	p.R544R	RP11-670E13.5_ENST00000574826.1_RNA|MIR3614_ENST00000581261.1_RNA|TRIM25_ENST00000573108.1_5'Flank|TRIM25_ENST00000537230.1_Silent_p.R544R	NM_005082.4	NP_005073.2	Q14258	TRI25_HUMAN	tripartite motif containing 25	544	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of type I interferon production (GO:0032480)|negative regulation of viral entry into host cell (GO:0046597)|negative regulation of viral release from host cell (GO:1902187)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein ubiquitination (GO:0016567)|regulation of viral entry into host cell (GO:0046596)|regulation of viral release from host cell (GO:1902186)|response to estrogen (GO:0043627)|response to vitamin D (GO:0033280)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	acid-amino acid ligase activity (GO:0016881)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.R544R(2)		breast(2)|endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Breast(9;6.15e-08)					AGGCGCTGTTGCGGCCGAGCC	0.602																																						ENST00000316881.4																			2	Substitution - coding silent(2)	p.R544R(2)	prostate(2)	breast(2)|endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(1630-1632)cgC>cgT		tripartite motif containing 25							79	70	73					17																	54969322		2203	4300	6503	SO:0001819	synonymous_variant	7706				innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|response to virus	cell junction|cytosol|nucleus	sequence-specific DNA binding transcription factor activity|ubiquitin-protein ligase activity|zinc ion binding	g.chr17:54969322G>A	D21205	CCDS11591.1	17q23.1	2013-01-09	2011-01-25	2004-03-30				"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	12932	protein-coding gene	gene with protein product		600453	"zinc finger protein 147 (estrogen-responsive finger protein)", "tripartite motif-containing 25"	ZNF147		7789997	Standard	NM_005082		Approved	EFP, RNF147	uc002iut.3	Q14258		ENST00000316881.4:c.1632C>T	17.37:g.54969322G>A						TRIM25_ENST00000537230.1_Silent_p.R544R	p.R544R	NM_005082.4	NP_005073.2	Q14258	TRI25_HUMAN			9	1681	-	Breast(9;6.15e-08)		544			B30.2/SPRY.			Silent	SNP	ENST00000316881.4	37	c.1632C>T	CCDS11591.1																																																																																				0.602	TRIM25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440609.1	NM_005082		37	94	0	0	0	0.092188	0	37	94					A	54969322	G	A	54969322	2	1	12	1	0	0	0	0	0	0	0	1	16496	1306	46	3		3	TRIM25	17	54969322	Silent	SNP	G	TCGA-CH-5737-01A-11D-1576-08	3068634	54969322	26225888	90	482											
FSCN2	25794	broad.mit.edu	37	chr17	79496338	79496338	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tggaggagagtcacccacagGtggtgctggtggctgccaac	8	7	16	10	0	1	1	1	0	0	1	1	3	1	2	2	6	3	2	2	6	1	0			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr17:79496338G>T	ENST00000417245.2	+	1	917	c.781G>T	c.(781-783)Gtg>Ttg	p.V261L	RP13-766D20.2_ENST00000442532.1_RNA|RP13-766D20.2_ENST00000430912.1_RNA|FSCN2_ENST00000334850.7_Missense_Mutation_p.V261L	NM_001077182.2|NM_012418.3	NP_001070650.1|NP_036550.1	O14926	FSCN2_HUMAN	fascin actin-bundling protein 2, retinal	261					actin cytoskeleton organization (GO:0030036)|actin filament bundle assembly (GO:0051017)|anatomical structure morphogenesis (GO:0009653)|eye photoreceptor cell development (GO:0042462)|visual perception (GO:0007601)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|stereocilium (GO:0032420)	actin binding (GO:0003779)|actin filament binding (GO:0051015)	p.V261L(2)		endometrium(1)|lung(1)|prostate(1)|urinary_tract(1)	4	all_neural(118;0.0878)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0371)			TCACCCACAGGTGGTGCTGGT	0.662																																						ENST00000417245.2																			2	Substitution - Missense(2)	p.V261L(2)	prostate(2)	endometrium(1)|lung(1)|prostate(1)|urinary_tract(1)	4						c.(781-783)Gtg>Ttg		fascin homolog 2, actin-bundling protein, retinal (Strongylocentrotus purpuratus)							12	14	13					17																	79496338		2175	4241	6416	SO:0001583	missense	25794				actin filament bundle assembly|anatomical structure morphogenesis|visual perception	actin cytoskeleton|cytoplasm|stereocilium	actin filament binding|protein binding, bridging	g.chr17:79496338G>T	AF030165	CCDS45810.1, CCDS45811.1	17q25	2014-02-03	2014-02-03		ENSG00000186765	ENSG00000186765		"Fascins"	3960	protein-coding gene	gene with protein product		607643	"fascin (Strongylocentrotus purpuratus) homolog 2 (actin-bundling protein, retinal)", "fascin homolog 2, actin-bundling protein, retinal (Strongylocentrotus purpuratus)"			10234509	Standard	NM_012418		Approved	RP30, RFSN	uc010wuo.2	O14926	OTTHUMG00000167477	ENST00000417245.2:c.781G>T	17.37:g.79496338G>T	ENSP00000388716:p.Val261Leu					FSCN2_ENST00000334850.7_Missense_Mutation_p.V261L	p.V261L	NM_001077182.2|NM_012418.3	NP_001070650.1|NP_036550.1	O14926	FSCN2_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0371)		1	917	+	all_neural(118;0.0878)|Melanoma(429;0.242)		261					A0AVC4|A8MRA6	Missense_Mutation	SNP	ENST00000417245.2	37	c.781G>T	CCDS45811.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.388000	0.82902	.	.	ENSG00000186765	ENST00000417245;ENST00000334850	T;T	0.36878	1.23;1.28	4.65	4.65	0.58169	Actin cross-linking (1);	0.000000	0.64402	D	0.000001	T	0.62925	0.2468	M	0.84326	2.69	0.80722	D	1	D;D	0.89917	0.957;1.0	D;D	0.78314	0.914;0.991	T	0.66164	-0.5992	10	0.41790	T	0.15	-20.04	16.6572	0.85231	0.0:0.0:1.0:0.0	.	261;261	O14926;A8MRA6	FSCN2_HUMAN;.	L	261	ENSP00000388716:V261L;ENSP00000334665:V261L	ENSP00000334665:V261L	V	+	1	0	FSCN2	77110933	1.000000	0.71417	1.000000	0.80357	0.811000	0.45836	9.192000	0.94947	2.266000	0.75297	0.460000	0.39030	GTG		0.662	FSCN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394746.1	NM_012418		4	7	1	0	0.150653	0.150653	0.158766	4	7					T	79496338	G	T	79496338	3	4	12	1	0	0	0	0	1	0	0	0	6068	1261	44	5	783	5	FSCN2	17	79496338	Missense_Mutation	SNP	G	TCGA-CH-5737-01A-11D-1576-08	24527016	79496338	1698872	91	483											
PSMA8	143471	broad.mit.edu	37	chr18	23759096	23759096	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aagaaatcaacctttgaaggTaagtcattaaccaaagagga	19	8	8	6	0	2	3	2	1	0	2	2	4	2	4	2	2	2	1	2	2	7	3			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr18:23759096T>C	ENST00000308268.6	+	6	767		c.e6+2		PSMA8_ENST00000415576.2_Splice_Site|PSMA8_ENST00000343848.6_Splice_Site	NM_001025096.1|NM_144662.2	NP_001020267.1|NP_653263.2	Q8TAA3	PSA7L_HUMAN	proteasome (prosome, macropain) subunit, alpha type, 8						anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|proteasome core complex, alpha-subunit complex (GO:0019773)|spermatoproteasome complex (GO:1990111)	threonine-type endopeptidase activity (GO:0004298)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|skin(2)	16	all_cancers(21;0.000585)|Lung NSC(5;0.00148)|all_lung(6;0.0038)|Ovarian(20;0.124)		OV - Ovarian serous cystadenocarcinoma(3;0.000324)|all cancers(3;0.000954)|LUSC - Lung squamous cell carcinoma(2;0.181)			CCTTTGAAGGTAAGTCATTAA	0.313																																						ENST00000308268.6																			0				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|skin(2)	16						c.e6+2		proteasome (prosome, macropain) subunit, alpha type, 8							45	51	49					18																	23759096		2203	4296	6499	SO:0001630	splice_region_variant	143471				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|mRNA metabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome core complex, alpha-subunit complex	threonine-type endopeptidase activity	g.chr18:23759096T>C	BC047355	CCDS32808.1, CCDS45842.1, CCDS45843.1	18q11.2	2006-12-18				ENSG00000154611		"Proteasome (prosome, macropain) subunits"	22985	protein-coding gene	gene with protein product							Standard	XM_005258199		Approved	MGC26605, PSMA7L	uc002kvq.3	Q8TAA3		ENST00000308268.6:c.678+2T>C	18.37:g.23759096T>C						PSMA8_ENST00000343848.6_Splice_Site|PSMA8_ENST00000415576.2_Splice_Site		NM_001025096.1|NM_144662.2	NP_001020267.1|NP_653263.2	Q8TAA3	PSA7L_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;0.000324)|all cancers(3;0.000954)|LUSC - Lung squamous cell carcinoma(2;0.181)		6	767	+	all_cancers(21;0.000585)|Lung NSC(5;0.00148)|all_lung(6;0.0038)|Ovarian(20;0.124)							B0YJ75|Q8IVP4|Q8TA98|Q8TAA2	Splice_Site	SNP	ENST00000308268.6	37		CCDS32808.1	.	.	.	.	.	.	.	.	.	.	T	21.7	4.192773	0.78902	.	.	ENSG00000154611	ENST00000308268;ENST00000415576;ENST00000343848;ENST00000538664;ENST00000536423	.	.	.	5.46	5.46	0.80206	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.5384	0.61659	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	PSMA8	22013094	1.000000	0.71417	0.963000	0.40424	0.990000	0.78478	7.133000	0.77259	2.081000	0.62600	0.529000	0.55759	.		0.313	PSMA8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000446255.1	NM_144662	Intron	3	172	0	0	0	0.115264	0	3	172					C	23759096	T	C	23759096	5	2	12	1	0	0	0	0	0	0	1	0	12673	1652	57	4	702	4	PSMA8	18	23759096	Splice_Site	SNP	T	TCGA-CH-5737-01A-11D-1576-08		23759096	54318152	92	484											
PIP5K1C	23396	broad.mit.edu	37	chr19	3641788	3641788	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgctgcagatcctcttccgCgggtggctcctcctgcggcc	2	10	12	17	3	1	1	0	0	1	1	5	1	5	1	5	3	3	3	5	3	0	1			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr19:3641788C>T	ENST00000335312.3	-	15	1790	c.1702G>A	c.(1702-1704)Gcg>Acg	p.A568T	PIP5K1C_ENST00000537021.1_Missense_Mutation_p.A568T|PIP5K1C_ENST00000539785.1_Missense_Mutation_p.A568T|PIP5K1C_ENST00000589578.1_Missense_Mutation_p.A568T	NM_001195733.1|NM_012398.2	NP_001182662.1|NP_036530.1	O60331	PI51C_HUMAN	phosphatidylinositol-4-phosphate 5-kinase, type I, gamma	568					actin cytoskeleton organization (GO:0030036)|adherens junction assembly (GO:0034333)|axon guidance (GO:0007411)|clathrin-mediated endocytosis (GO:0072583)|cytoskeletal anchoring at plasma membrane (GO:0007016)|neutrophil chemotaxis (GO:0030593)|phagocytosis (GO:0006909)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|platelet aggregation (GO:0070527)|single organismal cell-cell adhesion (GO:0016337)|small molecule metabolic process (GO:0044281)|synaptic vesicle endocytosis (GO:0048488)|synaptic vesicle exocytosis (GO:0016079)	cytosol (GO:0005829)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|uropod (GO:0001931)	1-phosphatidylinositol-4-phosphate 5-kinase activity (GO:0016308)|ATP binding (GO:0005524)	p.A568T(1)		large_intestine(3)|ovary(1)|skin(3)|stomach(2)	9		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.95e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0026)|STAD - Stomach adenocarcinoma(1328;0.183)		TCCTCTTCCGCGGGTGGCTCC	0.637																																					Esophageal Squamous(135;99 1744 12852 27186 39851)	ENST00000335312.3																			1	Substitution - Missense(1)	p.A568T(1)	prostate(1)	large_intestine(3)|ovary(1)|skin(3)|stomach(2)	9						c.(1702-1704)Gcg>Acg		phosphatidylinositol-4-phosphate 5-kinase, type I, gamma							79	61	67					19																	3641788		2203	4300	6503	SO:0001583	missense	23396				axon guidance	cytosol|plasma membrane	1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding	g.chr19:3641788C>T	AB011161	CCDS32872.1, CCDS56074.1, CCDS74257.1	19p13.3	2012-10-02			ENSG00000186111	ENSG00000186111			8996	protein-coding gene	gene with protein product		606102				9535851	Standard	NM_001195733		Approved	PIP5Kgamma, KIAA0589, LCCS3	uc002lyj.2	O60331	OTTHUMG00000180870	ENST00000335312.3:c.1702G>A	19.37:g.3641788C>T	ENSP00000335333:p.Ala568Thr					PIP5K1C_ENST00000539785.1_Missense_Mutation_p.A568T|PIP5K1C_ENST00000537021.1_Missense_Mutation_p.A568T|PIP5K1C_ENST00000589578.1_Missense_Mutation_p.A568T	p.A568T	NM_001195733.1|NM_012398.2	NP_001182662.1|NP_036530.1	O60331	PI51C_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.95e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0026)|STAD - Stomach adenocarcinoma(1328;0.183)	15	1790	-		Hepatocellular(1079;0.137)	568					B7Z9E7|C6GIJ7|C6GIJ8|Q7LE07	Missense_Mutation	SNP	ENST00000335312.3	37	c.1702G>A	CCDS32872.1	.	.	.	.	.	.	.	.	.	.	C	3.075	-0.190211	0.06299	.	.	ENSG00000186111	ENST00000335312;ENST00000539785;ENST00000537021	T;T;T	0.26660	1.74;1.74;1.72	4.63	4.63	0.57726	.	0.409434	0.23556	N	0.046920	T	0.13543	0.0328	N	0.14661	0.345	0.09310	N	1	B;B	0.34313	0.391;0.448	B;B	0.24394	0.053;0.023	T	0.12760	-1.0535	10	0.13108	T	0.6	-4.2187	16.5273	0.84334	0.0:1.0:0.0:0.0	.	568;568	O60331-3;O60331	.;PI51C_HUMAN	T	568	ENSP00000335333:A568T;ENSP00000445992:A568T;ENSP00000444779:A568T	ENSP00000335333:A568T	A	-	1	0	PIP5K1C	3592788	0.014000	0.17966	0.003000	0.11579	0.001000	0.01503	2.673000	0.46858	2.140000	0.66376	0.603000	0.83216	GCG		0.637	PIP5K1C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000453432.2	NM_012398		28	44	0	0	0	0.116897	0	28	44					T	3641788	C	T	3641788	3	4	12	1	0	0	0	0	1	0	0	0	11941	768	27	1	320	1	PIP5K1C	19	3641788	Missense_Mutation	SNP	C	TCGA-CH-5737-01A-11D-1576-08		3641788	55487195	93	485											
UNC13A	23025	broad.mit.edu	37	chr19	17780382	17780382	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctaagggtagctcaaagcgcGtgtccaggaggatgcggtgg	9	7	17	8	3	1	0	1	0	0	0	2	2	2	2	1	5	3	2	1	5	3	2			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr19:17780382G>A	ENST00000519716.2	-	5	373	c.374C>T	c.(373-375)aCg>aTg	p.T125M	UNC13A_ENST00000252773.7_Missense_Mutation_p.T125M|UNC13A_ENST00000428389.2_Missense_Mutation_p.T213M|UNC13A_ENST00000551649.1_Missense_Mutation_p.T125M|UNC13A_ENST00000550896.1_Missense_Mutation_p.T125M|UNC13A_ENST00000552293.1_Missense_Mutation_p.T125M	NM_001080421.2	NP_001073890.2	Q9UPW8	UN13A_HUMAN	unc-13 homolog A (C. elegans)	125					beta-amyloid metabolic process (GO:0050435)|innervation (GO:0060384)|intracellular signal transduction (GO:0035556)|neuromuscular junction development (GO:0007528)|neurotransmitter secretion (GO:0007269)|positive regulation of neurotransmitter secretion (GO:0001956)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission, glutamatergic (GO:0035249)|synaptic vesicle docking involved in exocytosis (GO:0016081)|synaptic vesicle maturation (GO:0016188)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|neuromuscular junction (GO:0031594)|neuron projection (GO:0043005)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)|protein N-terminus binding (GO:0047485)|syntaxin-1 binding (GO:0017075)	p.T213M(2)|p.T125M(2)		breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2)	61						CTCAAAGCGCGTGTCCAGGAG	0.612																																						ENST00000428389.2																			4	Substitution - Missense(4)	p.T213M(2)|p.T125M(2)	prostate(2)|lung(2)	breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2)	61						c.(637-639)aCg>aTg		unc-13 homolog A (C. elegans)							38	42	41					19																	17780382		2053	4191	6244	SO:0001583	missense	23025				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding	g.chr19:17780382G>A	AB028955	CCDS46013.1, CCDS46013.2	19p13.12	2008-02-05				ENSG00000130477			23150	protein-coding gene	gene with protein product		609894					Standard	NM_001080421		Approved	KIAA1032, Munc13-1	uc031rjv.1	Q9UPW8		ENST00000519716.2:c.374C>T	19.37:g.17780382G>A	ENSP00000429562:p.Thr125Met					UNC13A_ENST00000551649.1_Missense_Mutation_p.T125M|UNC13A_ENST00000252773.7_Missense_Mutation_p.T125M|UNC13A_ENST00000552293.1_Missense_Mutation_p.T125M|UNC13A_ENST00000550896.1_Missense_Mutation_p.T125M|UNC13A_ENST00000519716.2_Missense_Mutation_p.T125M	p.T213M			Q9UPW8	UN13A_HUMAN			6	637	-			125					E5RHY9	Missense_Mutation	SNP	ENST00000519716.2	37	c.638C>T	CCDS46013.2	.	.	.	.	.	.	.	.	.	.	G	23.0	4.361399	0.82353	.	.	ENSG00000130477	ENST00000519716;ENST00000428389;ENST00000252773;ENST00000551649;ENST00000552293;ENST00000550896	T;T;T;T;T;T	0.70749	-0.51;-0.51;-0.51;-0.51;-0.51;-0.51	4.92	4.92	0.64577	C2 calcium/lipid-binding domain, CaLB (1);	0.063724	0.64402	U	0.000009	T	0.65375	0.2685	L	0.52759	1.655	0.37414	D	0.913368	P	0.47677	0.899	B	0.39876	0.312	T	0.74044	-0.3791	10	0.49607	T	0.09	-13.1865	15.6173	0.76778	0.0:0.0:1.0:0.0	.	125	Q9UPW8	UN13A_HUMAN	M	125;213;125;125;125;125	ENSP00000429562:T125M;ENSP00000400409:T213M;ENSP00000252773:T125M;ENSP00000447236:T125M;ENSP00000447572:T125M;ENSP00000446831:T125M	ENSP00000252773:T125M	T	-	2	0	UNC13A	17641382	1.000000	0.71417	0.945000	0.38365	0.925000	0.55904	6.480000	0.73604	2.283000	0.76528	0.561000	0.74099	ACG		0.612	UNC13A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000376169.2	XM_038604		3	64	0	0	0	0.150653	0	3	64					A	17780382	G	A	17780382	3	1	12	1	0	0	0	0	1	0	0	0	16981	1145	40	1	4889	1	UNC13A	19	17780382	Missense_Mutation	SNP	G	TCGA-CH-5737-01A-11D-1576-08	14138594	17780382	41348601	94	486											
ZNF676	163223	broad.mit.edu	37	chr19	22364321	22364321	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttgtcatatcttctcaatatCattttttggaaagaatcttc	11	19	4	7	0	5	1	3	0	3	1	7	2	5	2	0	1	0	0	0	1	5	8			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr19:22364321C>T	ENST00000397121.2	-	3	515	c.198G>A	c.(196-198)atG>atA	p.M66I		NM_001001411.2	NP_001001411.2	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676	66					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.M66I(1)		NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				TTCTCAATATCATTTTTTGGA	0.303																																						ENST00000397121.2																			1	Substitution - Missense(1)	p.M66I(1)	prostate(1)	NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67						c.(196-198)atG>atA		zinc finger protein 676							61	54	56					19																	22364321		1891	4156	6047	SO:0001583	missense	163223				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:22364321C>T	AK097798	CCDS42539.1	19p12	2013-01-08				ENSG00000196109		"Zinc fingers, C2H2-type"	20429	protein-coding gene	gene with protein product							Standard	NM_001001411		Approved		uc002nqs.1	Q8N7Q3		ENST00000397121.2:c.198G>A	19.37:g.22364321C>T	ENSP00000380310:p.Met66Ile						p.M66I	NM_001001411.2	NP_001001411.2	Q8N7Q3	ZN676_HUMAN			3	515	-		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)	66					A8MVX5	Missense_Mutation	SNP	ENST00000397121.2	37	c.198G>A	CCDS42539.1	.	.	.	.	.	.	.	.	.	.	.	3.498	-0.102513	0.06967	.	.	ENSG00000196109	ENST00000397121	T	0.06768	3.26	0.814	0.814	0.18756	.	.	.	.	.	T	0.02848	0.0085	N	0.01874	-0.695	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.43814	-0.9368	9	0.35671	T	0.21	.	4.7761	0.13180	0.0:1.0:0.0:0.0	.	66	Q8N7Q3	ZN676_HUMAN	I	66	ENSP00000380310:M66I	ENSP00000380310:M66I	M	-	3	0	ZNF676	22156161	0.000000	0.05858	0.034000	0.17996	0.034000	0.12701	-1.290000	0.02777	0.183000	0.20059	0.186000	0.17326	ATG		0.303	ZNF676-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464392.1	NM_001001411		5	148	0	0	0	0.014758	0	5	148					T	22364321	C	T	22364321	3	4	12	1	0	0	0	0	1	0	0	0	18080	826	29	3	1572	3	ZNF676	19	22364321	Missense_Mutation	SNP	C	TCGA-CH-5737-01A-11D-1576-08	4583939	22364321	36764662	95	487											
ZNF98	148198	broad.mit.edu	37	chr19	22585674	22585674	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggtgatcaggtctggcttaGaggcagcaatacctgtttta	10	12	12	7	0	2	2	1	1	1	1	2	2	2	2	1	4	2	4	1	4	4	4			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr19:22585674G>T	ENST00000357774.5	-	3	291	c.170C>A	c.(169-171)tCt>tAt	p.S57Y	ZNF98_ENST00000601553.1_Missense_Mutation_p.S57Y	NM_001098626.1	NP_001092096.1	A6NK75	ZNF98_HUMAN	zinc finger protein 98	57	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.S57Y(2)		central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	37		all_cancers(12;0.0536)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00542)|Hepatocellular(1079;0.244)				GTCTGGCTTAGAGGCAGCAAT	0.393																																						ENST00000357774.5																			2	Substitution - Missense(2)	p.S57Y(2)	prostate(2)	central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	37						c.(169-171)tCt>tAt		zinc finger protein 98																																				SO:0001583	missense	148198				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:22585674G>T		CCDS46031.1	19p12	2014-02-14	2010-04-20	2008-06-12	ENSG00000197360	ENSG00000197360		"Zinc fingers, C2H2-type", "-"	13174	protein-coding gene	gene with protein product	"zinc finger protein 739"	603980					Standard	NM_001098626		Approved	ZNF739, F7175	uc002nqt.2	A6NK75	OTTHUMG00000182940	ENST00000357774.5:c.170C>A	19.37:g.22585674G>T	ENSP00000350418:p.Ser57Tyr					ZNF98_ENST00000601553.1_Missense_Mutation_p.S57Y	p.S57Y	NM_001098626.1	NP_001092096.1	A6NK75	ZNF98_HUMAN			3	291	-		all_cancers(12;0.0536)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00542)|Hepatocellular(1079;0.244)	57			KRAB.			Missense_Mutation	SNP	ENST00000357774.5	37	c.170C>A	CCDS46031.1	.	.	.	.	.	.	.	.	.	.	.	14.84	2.656178	0.47467	.	.	ENSG00000197360	ENST00000357774	T	0.00864	5.6	0.476	0.476	0.16779	Krueppel-associated box (3);	.	.	.	.	T	0.03608	0.0103	M	0.74881	2.28	0.21878	N	0.999498	D	0.64830	0.994	D	0.65010	0.931	T	0.33574	-0.9863	8	0.56958	D	0.05	.	.	.	.	.	57	A6NK75	ZNF98_HUMAN	Y	57	ENSP00000350418:S57Y	ENSP00000350418:S57Y	S	-	2	0	ZNF98	22377514	0.164000	0.22935	0.816000	0.32577	0.950000	0.60333	0.418000	0.21230	0.532000	0.28657	0.298000	0.19748	TCT		0.393	ZNF98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464398.1	NM_001098626		34	130	1	0	3.03874e-20	0.183431	3.68414e-20	34	130					T	22585674	G	T	22585674	3	4	12	1	0	0	0	0	1	0	0	0	18200	942	33	5	1556	5	ZNF98	19	22585674	Missense_Mutation	SNP	G	TCGA-CH-5737-01A-11D-1576-08	221353	22585674	36543309	96	488											
ZNF492	57615	broad.mit.edu	37	chr19	22836734	22836734	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taaaacaggtattgctgcctCtaagccagacctgatcacct	12	10	7	12	0	2	2	1	1	1	1	2	2	2	2	4	1	4	2	4	1	4	4			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr19:22836734C>A	ENST00000456783.2	+	3	291	c.47C>A	c.(46-48)tCt>tAt	p.S16Y		NM_020855.2	NP_065906.1	Q9P255	ZN492_HUMAN	zinc finger protein 492	16	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.S16Y(1)		endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		all_cancers(12;0.0266)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00203)|Hepatocellular(1079;0.244)				ATTGCTGCCTCTAAGCCAGAC	0.398																																						ENST00000456783.2																			1	Substitution - Missense(1)	p.S16Y(1)	prostate(1)	endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(46-48)tCt>tAt		zinc finger protein 492							50	59	56					19																	22836734		2182	4274	6456	SO:0001583	missense	57615				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:22836734C>A	AB040906	CCDS46032.1	19p13.11	2013-01-08				ENSG00000229676		"Zinc fingers, C2H2-type"	23707	protein-coding gene	gene with protein product			"zinc finger protein 115 (Y20)"	ZNF115		10819331	Standard	NM_020855		Approved	KIAA1473	uc002nqw.3	Q9P255		ENST00000456783.2:c.47C>A	19.37:g.22836734C>A	ENSP00000413660:p.Ser16Tyr						p.S16Y	NM_020855.2	NP_065906.1	Q9P255	ZN492_HUMAN			3	291	+		all_cancers(12;0.0266)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00203)|Hepatocellular(1079;0.244)	16			KRAB.		Q08EI7|Q08EI8	Missense_Mutation	SNP	ENST00000456783.2	37	c.47C>A	CCDS46032.1	.	.	.	.	.	.	.	.	.	.	.	10.80	1.452477	0.26074	.	.	ENSG00000229676	ENST00000456783	T	0.00864	5.6	0.458	0.458	0.16670	Krueppel-associated box (3);	.	.	.	.	T	0.03477	0.0100	M	0.87097	2.86	0.09310	N	1	D	0.55605	0.972	P	0.53549	0.729	T	0.24799	-1.0150	8	0.87932	D	0	.	.	.	.	.	16	Q9P255	ZN492_HUMAN	Y	16	ENSP00000413660:S16Y	ENSP00000413660:S16Y	S	+	2	0	ZNF492	22628574	0.553000	0.26513	0.276000	0.24689	0.263000	0.26337	1.097000	0.30988	0.482000	0.27582	0.484000	0.47621	TCT		0.398	ZNF492-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464581.1	NM_020855		14	151	1	0	3.8784e-16	0.062417	4.58053e-16	14	151					A	22836734	C	A	22836734	3	1	12	1	0	0	0	0	1	0	0	0	17940	913	32	5	53	5	ZNF492	19	22836734	Missense_Mutation	SNP	C	TCGA-CH-5737-01A-11D-1576-08	251060	22836734	36292249	97	489											
ZNF536	9745	broad.mit.edu	37	chr19	31039026	31039026	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaaagcttctctgttcatcAggccagacatcctgaggggg	9	9	12	11	0	3	2	2	1	1	1	5	2	4	2	2	3	1	3	2	3	1	2			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr19:31039026A>G	ENST00000355537.3	+	4	2647	c.2500A>G	c.(2500-2502)Agg>Ggg	p.R834G		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	834					negative regulation of neuron differentiation (GO:0045665)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|retinoic acid-responsive element binding (GO:0044323)	p.R834G(1)		NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					TCTGTTCATCAGGCCAGACAT	0.587																																						ENST00000355537.3																			1	Substitution - Missense(1)	p.R834G(1)	prostate(1)	NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182						c.(2500-2502)Agg>Ggg		zinc finger protein 536							71	79	76					19																	31039026		2203	4300	6503	SO:0001583	missense	9745				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	g.chr19:31039026A>G		CCDS32984.1	19q13.11	2013-01-08				ENSG00000198597		"Zinc fingers, C2H2-type"	29025	protein-coding gene	gene with protein product						9205841	Standard	XM_005259445		Approved	KIAA0390	uc002nsu.1	O15090		ENST00000355537.3:c.2500A>G	19.37:g.31039026A>G	ENSP00000347730:p.Arg834Gly						p.R834G	NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN			4	2647	+	Esophageal squamous(110;0.0834)		834					A2RU18	Missense_Mutation	SNP	ENST00000355537.3	37	c.2500A>G	CCDS32984.1	.	.	.	.	.	.	.	.	.	.	A	13.36	2.213363	0.39102	.	.	ENSG00000198597	ENST00000355537	T	0.09911	2.93	5.98	2.67	0.31697	.	0.045704	0.85682	D	0.000000	T	0.19927	0.0479	L	0.34521	1.04	0.43164	D	0.994952	D;D	0.76494	0.999;0.999	D;D	0.78314	0.991;0.991	T	0.00376	-1.1779	10	0.25106	T	0.35	-36.8699	13.871	0.63619	0.6411:0.3589:0.0:0.0	.	834;834	A7E228;O15090	.;ZN536_HUMAN	G	834	ENSP00000347730:R834G	ENSP00000347730:R834G	R	+	1	2	ZNF536	35730866	1.000000	0.71417	0.997000	0.53966	0.866000	0.49608	2.408000	0.44574	0.111000	0.17947	0.482000	0.46254	AGG		0.587	ZNF536-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459667.2	NM_014717		5	225	0	0	0	0.02938	0	5	225					G	31039026	A	G	31039026	3	3	12	1	0	0	0	0	1	0	0	0	17971	179	7	4	2510	4	ZNF536	19	31039026	Missense_Mutation	SNP	A	TCGA-CH-5737-01A-11D-1576-08	8202292	31039026	28089957	98	490											
GPI	2821	broad.mit.edu	37	chr19	34887247	34887247	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaatacatcaccaaatctggAacccgtgtggaccaccagac	15	6	7	13	1	2	1	1	0	1	1	2	3	2	3	4	2	2	0	4	2	4	1			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr19:34887247A>G	ENST00000356487.5	+	13	1345	c.1104A>G	c.(1102-1104)ggA>ggG	p.G368G	GPI_ENST00000415930.3_Silent_p.G379G|GPI_ENST00000586425.1_Silent_p.G368G	NM_000175.3	NP_000166.2	P06744	G6PI_HUMAN	glucose-6-phosphate isomerase	368					aldehyde catabolic process (GO:0046185)|angiogenesis (GO:0001525)|carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose 6-phosphate metabolic process (GO:0051156)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|hemostasis (GO:0007599)|humoral immune response (GO:0006959)|learning or memory (GO:0007611)|methylglyoxal biosynthetic process (GO:0019242)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of neuron apoptotic process (GO:0043524)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	glucose-6-phosphate isomerase activity (GO:0004347)|intramolecular transferase activity (GO:0016866)|monosaccharide binding (GO:0048029)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	25	Esophageal squamous(110;0.162)					CCAAATCTGGAACCCGTGTGG	0.502																																						ENST00000415930.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	25						c.(1135-1137)ggA>ggG		glucose-6-phosphate isomerase							64	68	67					19																	34887247		2203	4300	6503	SO:0001819	synonymous_variant	2821				angiogenesis|gluconeogenesis|glycolysis|hemostasis|humoral immune response	cytosol|extracellular space|nucleus|plasma membrane	cytokine activity|glucose-6-phosphate isomerase activity|growth factor activity	g.chr19:34887247A>G	M61214	CCDS12437.1, CCDS54246.1	19q13.1	2012-10-02	2010-05-11			ENSG00000105220	5.3.1.9		4458	protein-coding gene	gene with protein product		172400	"glucose phosphate isomerase"			2387591, 8575767	Standard	NM_001184722		Approved	AMF, NLK	uc002nvg.2	P06744		ENST00000356487.5:c.1104A>G	19.37:g.34887247A>G						GPI_ENST00000586425.1_Silent_p.G368G|GPI_ENST00000356487.5_Silent_p.G368G	p.G379G	NM_001184722.1	NP_001171651.1	P06744	G6PI_HUMAN			13	1307	+	Esophageal squamous(110;0.162)		368					B4DG39|Q9BRD3|Q9BSK5|Q9UHE6	Silent	SNP	ENST00000356487.5	37	c.1137A>G	CCDS12437.1																																																																																				0.502	GPI-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451693.3			4	209	0	0	0	0.014758	0	4	209					G	34887247	A	G	34887247	2	3	12	1	0	0	0	0	0	0	0	1	6611	233	9	4		4	GPI	19	34887247	Silent	SNP	A	TCGA-CH-5737-01A-11D-1576-08	3848221	34887247	24241736	99	491											
SUPT5H	6829	broad.mit.edu	37	chr19	39959750	39959750	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtgaagccaacactctctgAgctggaaaagtttgaggacc	12	9	11	9	0	1	3	0	3	1	0	2	5	1	5	2	2	3	2	2	2	4	1			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr19:39959750A>G	ENST00000599117.1	+	16	1542	c.1175A>G	c.(1174-1176)gAg>gGg	p.E392G	SUPT5H_ENST00000598725.1_Missense_Mutation_p.E392G|SUPT5H_ENST00000432763.2_Missense_Mutation_p.E392G|SUPT5H_ENST00000359191.6_Missense_Mutation_p.E388G|SUPT5H_ENST00000402194.2_Missense_Mutation_p.E388G			O00267	SPT5H_HUMAN	suppressor of Ty 5 homolog (S. cerevisiae)	392	Interaction with RNA polymerase II.				7-methylguanosine mRNA capping (GO:0006370)|cell cycle (GO:0007049)|chromatin remodeling (GO:0006338)|DNA-templated transcription, elongation (GO:0006354)|gene expression (GO:0010467)|negative regulation of DNA-templated transcription, elongation (GO:0032785)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|positive regulation of macroautophagy (GO:0016239)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of viral transcription (GO:0050434)|response to organic substance (GO:0010033)|single stranded viral RNA replication via double stranded DNA intermediate (GO:0039692)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	DSIF complex (GO:0032044)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|poly(A) RNA binding (GO:0044822)|protein heterodimerization activity (GO:0046982)	p.E392G(1)		breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(13)|lung(12)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	51	all_cancers(60;6.69e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;1.57e-06)|Ovarian(47;0.159)		Epithelial(26;3.9e-26)|all cancers(26;1.35e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			ACACTCTCTGAGCTGGAAAAG	0.567																																						ENST00000599117.1																			1	Substitution - Missense(1)	p.E392G(1)	prostate(1)	breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(13)|lung(12)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	51						c.(1174-1176)gAg>gGg		suppressor of Ty 5 homolog (S. cerevisiae)							80	84	83					19																	39959750		2203	4300	6503	SO:0001583	missense	6829				cell cycle|chromatin remodeling|mRNA capping|negative regulation of transcription elongation, DNA-dependent|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription elongation from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|response to organic substance|retroviral genome replication|transcription elongation from RNA polymerase II promoter	nucleoplasm	enzyme binding|protein heterodimerization activity	g.chr19:39959750A>G	U56402	CCDS12536.1, CCDS46072.1	19q13	2008-07-22	2001-11-28			ENSG00000196235			11469	protein-coding gene	gene with protein product		602102	"suppressor of Ty (S.cerevisiae) 5 homolog"			8975720	Standard	NM_003169		Approved	SPT5H, SPT5, FLJ34157	uc002olp.4	O00267		ENST00000599117.1:c.1175A>G	19.37:g.39959750A>G	ENSP00000470252:p.Glu392Gly					SUPT5H_ENST00000359191.6_Missense_Mutation_p.E388G|SUPT5H_ENST00000432763.2_Missense_Mutation_p.E392G|SUPT5H_ENST00000402194.2_Missense_Mutation_p.E388G|SUPT5H_ENST00000598725.1_Missense_Mutation_p.E392G	p.E392G			O00267	SPT5H_HUMAN	Epithelial(26;3.9e-26)|all cancers(26;1.35e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)		16	1542	+	all_cancers(60;6.69e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;1.57e-06)|Ovarian(47;0.159)		392			Interaction with RNA polymerase II.		O43279|Q59G52|Q99639	Missense_Mutation	SNP	ENST00000599117.1	37	c.1175A>G	CCDS12536.1	.	.	.	.	.	.	.	.	.	.	A	27.3	4.822442	0.90873	.	.	ENSG00000196235	ENST00000432763;ENST00000402194;ENST00000378524;ENST00000359191	.	.	.	5.67	5.67	0.87782	.	0.054469	0.64402	D	0.000001	D	0.86981	0.6064	H	0.95539	3.685	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.989;0.998;0.996	D	0.90756	0.4661	8	.	.	.	-25.4719	14.9018	0.70684	1.0:0.0:0.0:0.0	.	184;388;392	B4DJK4;O00267-2;O00267	.;.;SPT5H_HUMAN	G	392;388;370;392	.	.	E	+	2	0	SUPT5H	44651590	1.000000	0.71417	0.997000	0.53966	0.763000	0.43281	9.125000	0.94402	2.179000	0.69175	0.528000	0.53228	GAG		0.567	SUPT5H-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000464918.1	NM_003169		17	115	0	0	0	0.062417	0	17	115					G	39959750	A	G	39959750	3	3	12	1	0	0	0	0	1	0	0	0	15396	304	11	4	1229	4	SUPT5H	19	39959750	Missense_Mutation	SNP	A	TCGA-CH-5737-01A-11D-1576-08	5072503	39959750	19169233	100	492											
PSG8	440533	broad.mit.edu	37	chr19	43259290	43259290	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	taccctgggactgaccgggaGgctctgaccatttagccacc	8	8	11	14	1	1	2	0	2	1	0	1	4	1	4	5	3	2	1	5	3	2	3			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr19:43259290G>T	ENST00000306511.4	-	4	935	c.838C>A	c.(838-840)Ctc>Atc	p.L280I	PSG8_ENST00000404209.4_Missense_Mutation_p.L280I|PSG8_ENST00000600709.1_Intron|PSG8_ENST00000401467.2_Missense_Mutation_p.L187I|PSG8_ENST00000406636.3_Missense_Mutation_p.L158I	NM_182707.2	NP_874366.1	Q9UQ74	PSG8_HUMAN	pregnancy specific beta-1-glycoprotein 8	280	Ig-like C2-type 2.					extracellular region (GO:0005576)		p.L280I(1)		breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(19)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	40		Prostate(69;0.00899)				CTGACCGGGAGGCTCTGACCA	0.448																																						ENST00000404209.4																			1	Substitution - Missense(1)	p.L280I(1)	prostate(1)	breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(19)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	40						c.(838-840)Ctc>Atc		pregnancy specific beta-1-glycoprotein 8							73	79	77					19																	43259290		2202	4280	6482	SO:0001583	missense	0					extracellular region		g.chr19:43259290G>T	M74106	CCDS33037.1, CCDS46090.1, CCDS46091.1	19q13.2	2013-01-29			ENSG00000124467	ENSG00000124467		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	9525	protein-coding gene	gene with protein product		176397				1672663, 1572651	Standard	NM_182707		Approved		uc002ouo.2	Q9UQ74	OTTHUMG00000151118	ENST00000306511.4:c.838C>A	19.37:g.43259290G>T	ENSP00000305005:p.Leu280Ile					PSG8_ENST00000306511.4_Missense_Mutation_p.L280I|PSG8_ENST00000600709.1_Intron|PSG8_ENST00000406636.3_Missense_Mutation_p.L158I|PSG8_ENST00000401467.2_Missense_Mutation_p.L187I	p.L280I	NM_001130167.1	NP_001123639.1	Q9UQ74	PSG8_HUMAN			4	934	-		Prostate(69;0.00899)	280			Ig-like C2-type 2.		A5PKV3|B2RPL4|B4DTI6|O60410|Q68CR6	Missense_Mutation	SNP	ENST00000306511.4	37	c.838C>A	CCDS33037.1	.	.	.	.	.	.	.	.	.	.	N	9.920	1.211781	0.22289	.	.	ENSG00000124467	ENST00000404209;ENST00000406636;ENST00000401467;ENST00000426252;ENST00000407488;ENST00000306511	T;T;T;T	0.13420	2.59;2.59;2.59;2.59	1.26	0.133	0.14766	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.30665	0.0772	M	0.81239	2.535	0.09310	N	1	D;D;D;D;D;D	0.89917	0.994;1.0;0.972;0.999;0.982;0.986	D;D;P;D;P;D	0.91635	0.966;0.999;0.896;0.996;0.852;0.909	T	0.10543	-1.0625	9	0.42905	T	0.14	.	3.0739	0.06240	0.3293:0.0:0.6706:0.0	.	158;187;280;187;280;280	Q9UQ74-2;B5MCQ0;Q9UQ74;E7ENH0;Q9UQ74-3;A5PKV3	.;.;PSG8_HUMAN;.;.;.	I	280;158;187;92;187;280	ENSP00000385869:L280I;ENSP00000385081:L158I;ENSP00000386090:L187I;ENSP00000305005:L280I	ENSP00000305005:L280I	L	-	1	0	PSG8	47951130	0.018000	0.18449	0.187000	0.23214	0.061000	0.15899	0.421000	0.21280	0.653000	0.30826	0.298000	0.19748	CTC		0.448	PSG8-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000464526.1			95	584	1	0	6.01484e-32	0.139131	7.42372e-32	95	584					T	43259290	G	T	43259290	3	4	12	1	0	0	0	0	1	0	0	0	12661	1000	35	5	471	5	PSG8	19	43259290	Missense_Mutation	SNP	G	TCGA-CH-5737-01A-11D-1576-08	3299540	43259290	15869693	101	493											
ZC3H4	23211	broad.mit.edu	37	chr19	47589711	47589711	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ccatagagcctctgcccctgCctcggctgcccctgcccatg	4	8	9	20	1	1	1	0	0	1	1	2	1	1	1	8	1	5	1	8	1	1	1	rs653615		TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr19:47589711C>T	ENST00000253048.5	-	6	837	c.800G>A	c.(799-801)gGc>gAc	p.G267D	ZC3H4_ENST00000594019.1_Intron	NM_015168.1	NP_055983.1	Q9UPT8	ZC3H4_HUMAN	zinc finger CCCH-type containing 4	267	Gly-rich.						metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.G267D(1)		NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	41		all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889)		OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372)		TCTGCCCCTGCCTCGGCTGCC	0.667																																						ENST00000253048.5																			1	Substitution - Missense(1)	p.G267D(1)	prostate(1)	NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	41						c.(799-801)gGc>gAc		zinc finger CCCH-type containing 4							61	72	69					19																	47589711		2000	4154	6154	SO:0001583	missense	23211						nucleic acid binding|zinc ion binding	g.chr19:47589711C>T	AB028987	CCDS42582.1	19q13.33	2012-07-05	2007-10-18	2007-10-18		ENSG00000130749		"Zinc fingers, CCCH-type domain containing"	17808	protein-coding gene	gene with protein product			"chromosome 19 open reading frame 7"	C19orf7			Standard	NM_015168		Approved	KIAA1064	uc002pga.4	Q9UPT8		ENST00000253048.5:c.800G>A	19.37:g.47589711C>T	ENSP00000253048:p.Gly267Asp					ZC3H4_ENST00000594019.1_Intron	p.G267D	NM_015168.1	NP_055983.1	Q9UPT8	ZC3H4_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372)	6	837	-		all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889)	267			Gly-rich.		Q9Y420	Missense_Mutation	SNP	ENST00000253048.5	37	c.800G>A	CCDS42582.1	.	.	.	.	.	.	.	.	.	.	C	19.40	3.820265	0.71028	.	.	ENSG00000130749	ENST00000253048	T	0.28069	1.63	5.12	5.12	0.69794	.	0.666466	0.13658	N	0.371780	T	0.49830	0.1580	L	0.44542	1.39	0.58432	D	0.999998	D	0.89917	1.0	D	0.71414	0.973	T	0.41342	-0.9514	10	0.52906	T	0.07	.	17.7009	0.88294	0.0:1.0:0.0:0.0	rs653615	267	Q9UPT8	ZC3H4_HUMAN	D	267	ENSP00000253048:G267D	ENSP00000253048:G267D	G	-	2	0	ZC3H4	52281551	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.152000	0.64882	2.540000	0.85666	0.655000	0.94253	GGC		0.667	ZC3H4-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466667.1			4	81	0	0	0	0.150653	0	4	81					T	47589711	C	T	47589711	3	4	12	1	0	0	0	0	1	0	0	0	17567	739	26	3	3151	3	ZC3H4	19	47589711	Missense_Mutation	SNP	C	TCGA-CH-5737-01A-11D-1576-08	4330421	47589711	11539272	102	494											
C20orf194	25943	broad.mit.edu	37	chr20	3251194	3251194	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtgtgactggtgaataccaCgttactcaccaggcctggga	9	9	13	10	1	1	2	1	2	0	0	1	3	1	3	3	4	2	1	3	4	3	2	rs368282556		TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr20:3251194C>T	ENST00000252032.9	-	30	2732	c.2665G>A	c.(2665-2667)Gtg>Atg	p.V889M	C20orf194_ENST00000453730.2_3'UTR	NM_001009984.2	NP_001009984.1	Q5TEA3	CT194_HUMAN	chromosome 20 open reading frame 194	889								p.V889M(1)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(15)|prostate(2)|skin(1)	39						GTGAATACCACGTTACTCACC	0.557																																						ENST00000252032.9																			1	Substitution - Missense(1)	p.V889M(1)	prostate(1)	NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(15)|prostate(2)|skin(1)	39						c.(2665-2667)Gtg>Atg		chromosome 20 open reading frame 194							47	52	50					20																	3251194		2151	4258	6409	SO:0001583	missense	25943							g.chr20:3251194C>T	AL110249	CCDS42851.1	20p13	2012-10-30			ENSG00000088854	ENSG00000088854			17721	protein-coding gene	gene with protein product		614146					Standard	NM_001009984		Approved	DKFZp434N061	uc002wii.3	Q5TEA3	OTTHUMG00000031742	ENST00000252032.9:c.2665G>A	20.37:g.3251194C>T	ENSP00000252032:p.Val889Met					C20orf194_ENST00000453730.2_3'UTR	p.V889M	NM_001009984.2	NP_001009984.1	Q5TEA3	CT194_HUMAN			30	2732	-			889					Q66K86|Q6P2R9|Q9UFX9	Missense_Mutation	SNP	ENST00000252032.9	37	c.2665G>A	CCDS42851.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.164435	0.78339	.	.	ENSG00000088854	ENST00000252032	T	0.25912	1.77	5.26	5.26	0.73747	.	0.067883	0.56097	D	0.000021	T	0.50086	0.1595	L	0.59436	1.845	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.51180	-0.8738	10	0.87932	D	0	.	18.8657	0.92292	0.0:1.0:0.0:0.0	.	628;889	Q0IIP3;Q5TEA3	.;CT194_HUMAN	M	889	ENSP00000252032:V889M	ENSP00000252032:V889M	V	-	1	0	C20orf194	3199194	0.996000	0.38824	0.993000	0.49108	0.852000	0.48524	3.610000	0.54125	2.450000	0.82876	0.643000	0.83706	GTG		0.557	C20orf194-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077734.1	NM_001009984		11	103	0	0	0	0.069234	0	11	103					T	3251194	C	T	3251194	3	4	12	1	0	0	0	0	1	0	0	0	2099	536	19	1	900	1	C20orf194	20	3251194	Missense_Mutation	SNP	C	TCGA-CH-5737-01A-11D-1576-08		3251194	59774326	103	495											
C20orf111	51526	broad.mit.edu	37	chr20	42831694	42831697	+	Frame_Shift_Del	DEL	ACAG	ACAG	-																															tgacacctgtgccttctccaAcagacagagatgctacagac																										TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr20:42831694_42831697delACAG	ENST00000372970.2	-	5	275_278	c.95_98delCTGT	c.(94-99)tctgttfs	p.SV32fs	OSER1_ENST00000255174.2_Frame_Shift_Del_p.SV32fs			Q9NX31	OSER1_HUMAN	oxidative stress responsive serine-rich 1	32					cellular response to hydrogen peroxide (GO:0070301)												GCCTTCTCCAACAGACAGAGATGC	0.417																																						ENST00000372970.2																			0											c.(94-99)ttfs		oxidative stress responsive serine-rich 1																																				SO:0001589	frameshift_variant	51526							g.chr20:42831694_42831697delACAG	AL035447	CCDS13327.1	20q13.11	2013-05-17	2013-05-17	2013-05-17	ENSG00000132823	ENSG00000132823			16105	protein-coding gene	gene with protein product	"peroxide-inducible transcript 1", "oxidative stress-responsive 1"		"chromosome 20 open reading frame 111"	C20orf111		17148688	Standard	NM_016470		Approved	dJ1183I21.1, HSPC207, Perit1, Osr1		Q9NX31	OTTHUMG00000032518	ENST00000372970.2:c.95_98delCTGT	20.37:g.42831698_42831701delACAG	ENSP00000362061:p.Ser32fs					OSER1_ENST00000255174.2_Frame_Shift_Del_p.SV32fs	p.SV32fs							5	275_278	-								B2RCK4|O95912|Q9NZ84|Q9P0R8	Frame_Shift_Del	DEL	ENST00000372970.2	37	c.95_98delCTGT	CCDS13327.1																																																																																				0.417	OSER1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079334.2	NM_016470		35	72						35	72	---	---	---	---	-	42831697	ACAG	-	42831694	7	5	12	1	0	1	0	1	0	0	0	0	2080	43	2	0	788	0	C20orf111	20	42831694	Frame_Shift_Del	DEL	ACAG	TCGA-CH-5737-01A-11D-1576-08	39580500	42831694	20193826	104	496											
DDX27	55661	broad.mit.edu	37	chr20	47845307	47845307	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cgtctgatttataaaccccgCcaggctccagtcacccgcgt	8	9	8	16	4	2	1	1	1	1	0	3	1	3	1	5	1	1	1	5	1	3	3			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr20:47845307C>T	ENST00000371764.4	+	8	864	c.855C>T	c.(853-855)cgC>cgT	p.R285R	DDX27_ENST00000484427.1_3'UTR	NM_017895.7	NP_060365.7	Q96GQ7	DDX27_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 27	285	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.					nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)	p.R285R(2)		NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	45			BRCA - Breast invasive adenocarcinoma(12;0.000899)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			ATAAACCCCGCCAGGCTCCAG	0.572																																						ENST00000371764.4																			2	Substitution - coding silent(2)	p.R285R(2)	prostate(2)	NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	45						c.(853-855)cgC>cgT		DEAD (Asp-Glu-Ala-Asp) box polypeptide 27							111	118	116					20																	47845307		2203	4300	6503	SO:0001819	synonymous_variant	55661					nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding	g.chr20:47845307C>T	AL049766	CCDS13416.1	20q13.13	2010-07-06	2003-06-13		ENSG00000124228	ENSG00000124228		"DEAD-boxes"	15837	protein-coding gene	gene with protein product			"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 27"				Standard	NM_017895		Approved	dJ686N3.1, DRS1	uc002xuh.3	Q96GQ7	OTTHUMG00000033072	ENST00000371764.4:c.855C>T	20.37:g.47845307C>T						DDX27_ENST00000484427.1_3'UTR	p.R285R	NM_017895.7	NP_060365.7	Q96GQ7	DDX27_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.000899)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		8	864	+			285			Helicase ATP-binding.		A0AVB6|B7ZLY1|Q5VXM7|Q8WYG4|Q969N7|Q96F57|Q96L97|Q9BWY9|Q9BXF0|Q9H990|Q9NWU3|Q9P0C2|Q9UGD6	Silent	SNP	ENST00000371764.4	37	c.855C>T	CCDS13416.1																																																																																				0.572	DDX27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080485.1			109	226	0	0	0	0.139131	0	109	226					T	47845307	C	T	47845307	2	4	12	1	0	0	0	0	0	0	0	1	4354	726	26	3		3	DDX27	20	47845307	Silent	SNP	C	TCGA-CH-5737-01A-11D-1576-08	5013613	47845307	15180213	105	497											
KCNG1	3755	broad.mit.edu	37	chr20	49620929	49620929	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggccatctcgttctcgatgaCgtagagcaggggcgcgaaga	9	7	15	10	5	2	3	0	1	2	2	4	5	2	3	1	3	1	3	1	3	2	2			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr20:49620929C>T	ENST00000371571.4	-	3	1474	c.1189G>A	c.(1189-1191)Gtc>Atc	p.V397I	RP5-955M13.4_ENST00000424566.1_RNA|KCNG1_ENST00000506387.1_5'UTR	NM_002237.3	NP_002228.2	Q9UIX4	KCNG1_HUMAN	potassium voltage-gated channel, subfamily G, member 1	397					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)	p.V397I(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						TTCTCGATGACGTAGAGCAGG	0.662																																						ENST00000371571.4																			1	Substitution - Missense(1)	p.V397I(1)	prostate(1)	breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						c.(1189-1191)Gtc>Atc		potassium voltage-gated channel, subfamily G, member 1							39	40	40					20																	49620929		2203	4300	6503	SO:0001583	missense	3755					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr20:49620929C>T	AF033383	CCDS13436.1	20q13	2011-07-05			ENSG00000026559	ENSG00000026559		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6248	protein-coding gene	gene with protein product		603788		KCNG		9434767, 16382104	Standard	NM_002237		Approved	Kv6.1, kH2, K13	uc002xwa.4	Q9UIX4	OTTHUMG00000032745	ENST00000371571.4:c.1189G>A	20.37:g.49620929C>T	ENSP00000360626:p.Val397Ile					RP5-955M13.3_ENST00000506387.1_RNA|RP5-955M13.4_ENST00000424566.1_RNA	p.V397I	NM_002237.3	NP_002228.2	Q9UIX4	KCNG1_HUMAN			3	1474	-			397					A8K3S4|O43528|Q5JXL5|Q9BRC1	Missense_Mutation	SNP	ENST00000371571.4	37	c.1189G>A	CCDS13436.1	.	.	.	.	.	.	.	.	.	.	C	11.82	1.751258	0.31046	.	.	ENSG00000026559	ENST00000371571	T	0.41758	0.99	5.49	5.49	0.81192	Ion transport (1);	0.066432	0.64402	D	0.000008	T	0.36799	0.0980	N	0.25890	0.77	0.80722	D	1	P	0.46656	0.882	P	0.46659	0.523	T	0.05683	-1.0870	9	.	.	.	.	14.2294	0.65882	0.1494:0.8506:0.0:0.0	.	397	Q9UIX4	KCNG1_HUMAN	I	397	ENSP00000360626:V397I	.	V	-	1	0	KCNG1	49054336	0.989000	0.36119	0.996000	0.52242	0.474000	0.32979	2.394000	0.44450	2.578000	0.87016	0.462000	0.41574	GTC		0.662	KCNG1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079726.4	NM_002237		4	72	0	0	0	0.150653	0	4	72					T	49620929	C	T	49620929	3	4	12	1	0	0	0	0	1	0	0	0	8027	536	19	1	356	1	KCNG1	20	49620929	Missense_Mutation	SNP	C	TCGA-CH-5737-01A-11D-1576-08	1775622	49620929	13404591	106	498											
CTCFL	140690	broad.mit.edu	37	chr20	56099193	56099193	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctccttcaggcctttttcCggcatcaactcgagttcttt	5	16	6	14	2	3	0	2	0	1	0	7	1	6	0	4	2	1	2	4	2	1	5			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr20:56099193C>T	ENST00000608263.1	-	1	730	c.69G>A	c.(67-69)ccG>ccA	p.P23P	CTCFL_ENST00000502686.2_Intron|CTCFL_ENST00000432255.2_Silent_p.P23P|CTCFL_ENST00000481655.2_Silent_p.P23P|CTCFL_ENST00000608425.1_Silent_p.P23P|CTCFL_ENST00000608858.1_Intron|CTCFL_ENST00000371196.2_Silent_p.P23P|CTCFL_ENST00000243914.3_Silent_p.P23P|CTCFL_ENST00000608440.1_Silent_p.P23P|CTCFL_ENST00000429804.3_Silent_p.P23P|CTCFL_ENST00000608903.1_Intron|CTCFL_ENST00000608158.1_Silent_p.P23P|CTCFL_ENST00000422869.2_Silent_p.P23P|CTCFL_ENST00000423479.3_Silent_p.P23P|CTCFL_ENST00000539382.1_Intron|CTCFL_ENST00000433949.3_Intron|CTCFL_ENST00000609232.1_Silent_p.P23P	NM_001269041.1	NP_001255970.1	Q8NI51	CTCFL_HUMAN	CCCTC-binding factor (zinc finger protein)-like	23					cell cycle (GO:0007049)|DNA methylation involved in gamete generation (GO:0043046)|histone methylation (GO:0016571)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of histone H3-K4 methylation (GO:0051569)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone binding (GO:0042393)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|transcription regulatory region DNA binding (GO:0044212)	p.P23P(1)		NS(1)|breast(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(28)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58	Lung NSC(12;0.00132)|all_lung(29;0.00433)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;3.95e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.09e-07)			GGCCTTTTTCCGGCATCAACT	0.507																																						ENST00000426658.2																			1	Substitution - coding silent(1)	p.P23P(1)	prostate(1)	NS(1)|breast(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(28)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						c.(67-69)ccG>ccA		CCCTC-binding factor (zinc finger protein)-like							221	250	240					20																	56099193		2203	4300	6503	SO:0001819	synonymous_variant	140690				cell cycle|DNA methylation involved in gamete generation|histone methylation|positive regulation of transcription, DNA-dependent|regulation of gene expression by genetic imprinting|regulation of histone H3-K4 methylation|transcription, DNA-dependent	cytoplasm|nucleus	histone binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding	g.chr20:56099193C>T		CCDS13459.1, CCDS58776.1, CCDS58777.1, CCDS58778.1, CCDS58779.1, CCDS58780.1, CCDS58781.1, CCDS58782.1, CCDS68161.1, CCDS68162.1, CCDS68163.1, CCDS68164.1	20q13.31	2013-01-08			ENSG00000124092	ENSG00000124092		"Zinc fingers, C2H2-type"	16234	protein-coding gene	gene with protein product	"cancer/testis antigen 27"	607022					Standard	NM_001269040		Approved	dJ579F20.2, BORIS, CT27	uc010giw.1	Q8NI51	OTTHUMG00000032829	ENST00000608263.1:c.69G>A	20.37:g.56099193C>T						CTCFL_ENST00000433949.2_Silent_p.P23P|CTCFL_ENST00000422869.2_Silent_p.P23P|CTCFL_ENST00000422109.2_Silent_p.P23P|CTCFL_ENST00000243914.3_Silent_p.P23P|CTCFL_ENST00000539382.1_Intron|CTCFL_ENST00000432255.2_Silent_p.P23P|CTCFL_ENST00000429804.2_Silent_p.P23P|CTCFL_ENST00000502686.2_Intron|CTCFL_ENST00000423479.2_Silent_p.P23P|CTCFL_ENST00000371196.2_Silent_p.P23P	p.P23P			Q8NI51	CTCFL_HUMAN	BRCA - Breast invasive adenocarcinoma(13;3.95e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.09e-07)		1	730	-	Lung NSC(12;0.00132)|all_lung(29;0.00433)|Melanoma(10;0.242)		23					A0S6W1|A1L4C6|A6XGL8|A6XGM2|A6XGM3|A6XGM8|A6XGN0|A6XGN1|A6XGN2|A6XGN3|A6XGN4|E7EQ27|E7EUE3|E9PBA9|Q5JUG4|Q9BZ30|Q9NQJ3	Silent	SNP	ENST00000608263.1	37	c.69G>A	CCDS13459.1																																																																																				0.507	CTCFL-019	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000472040.1	NM_080618		241	498	0	0	0	0.139131	0	241	498					T	56099193	C	T	56099193	2	4	12	1	0	0	0	0	0	0	0	1	4001	639	23	2		2	CTCFL	20	56099193	Silent	SNP	C	TCGA-CH-5737-01A-11D-1576-08	6478264	56099193	6926327	107	499											
DYRK1A	1859	broad.mit.edu	37	chr21	38884778	38884778	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgaggcaaggggctgatagaGaagagtcccccatgacagga	13	5	15	8	0	0	5	0	3	0	2	1	7	1	6	2	4	0	2	2	4	3	1			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr21:38884778G>C	ENST00000398960.2	+	11	2311	c.2236G>C	c.(2236-2238)Gaa>Caa	p.E746Q	DYRK1A_ENST00000455387.2_Missense_Mutation_p.E518Q|DYRK1A_ENST00000338785.3_3'UTR|DYRK1A_ENST00000339659.4_Missense_Mutation_p.E737Q	NM_001396.3|NM_130438.2	NP_001387.2|NP_569122.1	Q13627	DYR1A_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1A	746					circadian rhythm (GO:0007623)|mitotic cell cycle (GO:0000278)|negative regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043518)|nervous system development (GO:0007399)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of protein deacetylation (GO:0090312)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)	nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase activity (GO:0004672)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)|tau protein binding (GO:0048156)	p.E746Q(1)		breast(4)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	42						GGCTGATAGAGAAGAGTCCCC	0.438																																					Melanoma(114;464 1602 31203 43785 45765)	ENST00000339659.3																			1	Substitution - Missense(1)	p.E746Q(1)	prostate(1)	breast(4)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	42						c.(2209-2211)Gaa>Caa		dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1A							103	105	104					21																	38884778		2203	4300	6503	SO:0001583	missense	1859				nervous system development|peptidyl-tyrosine phosphorylation|protein autophosphorylation	nuclear speck	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding|protein self-association|protein serine/threonine kinase activity	g.chr21:38884778G>C	U52373	CCDS13653.1, CCDS13654.1, CCDS42925.1, CCDS42926.1	21q22.13	2010-04-21			ENSG00000157540	ENSG00000157540			3091	protein-coding gene	gene with protein product		600855		DYRK1, DYRK, MNBH		9284911	Standard	NM_130436		Approved		uc002ywk.3	Q13627	OTTHUMG00000086657	ENST00000398960.2:c.2236G>C	21.37:g.38884778G>C	ENSP00000381932:p.Glu746Gln					DYRK1A_ENST00000338785.3_3'UTR|DYRK1A_ENST00000398960.2_Missense_Mutation_p.E746Q|DYRK1A_ENST00000455387.2_Missense_Mutation_p.E518Q	p.E737Q	NM_130436.2	NP_569120.1	Q13627	DYR1A_HUMAN			11	3679	+			746					O60769|Q92582|Q92810|Q9UNM5	Missense_Mutation	SNP	ENST00000398960.2	37	c.2209G>C	CCDS42925.1	.	.	.	.	.	.	.	.	.	.	G	18.65	3.670215	0.67814	.	.	ENSG00000157540	ENST00000339659;ENST00000398960;ENST00000455387	T;T;T	0.60548	0.18;0.23;0.79	5.13	5.13	0.70059	.	0.000000	0.85682	D	0.000000	T	0.65678	0.2714	L	0.27053	0.805	0.80722	D	1	D;D	0.61080	0.981;0.989	D;D	0.70487	0.932;0.969	T	0.65681	-0.6109	10	0.41790	T	0.15	.	18.9479	0.92628	0.0:0.0:1.0:0.0	.	746;737	Q13627;Q13627-2	DYR1A_HUMAN;.	Q	737;746;518	ENSP00000340373:E737Q;ENSP00000381932:E746Q;ENSP00000407854:E518Q	ENSP00000340373:E737Q	E	+	1	0	DYRK1A	37806648	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.691000	0.98679	2.556000	0.86216	0.591000	0.81541	GAA		0.438	DYRK1A-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194804.1	NM_001396		7	178	0	0	0	0.02938	0	7	178					C	38884778	G	C	38884778	3	2	12	1	0	0	0	0	1	0	0	0	4854	943	33	5	2362	5	DYRK1A	21	38884778	Missense_Mutation	SNP	G	TCGA-CH-5737-01A-11D-1576-08		38884778	9245117	108	500											
RFPL1	5988	broad.mit.edu	37	chr22	29837851	29837851	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gcctctctgccagcacggtgCcgctgactttcctcttcgta	4	12	9	16	3	2	1	0	1	2	0	5	1	3	1	4	1	3	3	4	1	1	3			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr22:29837851C>T	ENST00000354373.2	+	2	903	c.694C>T	c.(694-696)Ccg>Tcg	p.P232S	RFPL1S_ENST00000461286.3_RNA|RFPL1S_ENST00000539579.1_RNA	NM_021026.2	NP_066306.2	O75677	RFPL1_HUMAN	ret finger protein-like 1	232	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.						zinc ion binding (GO:0008270)			endometrium(3)|large_intestine(1)|lung(6)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	16						CAGCACGGTGCCGCTGACTTT	0.522																																						ENST00000354373.2																			0				endometrium(3)|large_intestine(1)|lung(6)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	16						c.(694-696)Ccg>Tcg		ret finger protein-like 1							121	106	111					22																	29837851		2203	4300	6503	SO:0001583	missense	5988						zinc ion binding	g.chr22:29837851C>T	AJ010228	CCDS13857.2	22q12	2006-04-25			ENSG00000128250	ENSG00000128250		"RING-type (C3HC4) zinc fingers"	9977	protein-coding gene	gene with protein product		605968				10508838	Standard	NM_021026		Approved	RNF78	uc003afn.3	O75677	OTTHUMG00000150516	ENST00000354373.2:c.694C>T	22.37:g.29837851C>T	ENSP00000346342:p.Pro232Ser					RFPL1S_ENST00000461286.2_RNA	p.P232S	NM_021026.2	NP_066306.2	O75677	RFPL1_HUMAN			2	903	+			232			B30.2/SPRY.		Q6IC06|Q9UJ97	Missense_Mutation	SNP	ENST00000354373.2	37	c.694C>T	CCDS13857.2	.	.	.	.	.	.	.	.	.	.	C	13.19	2.162547	0.38217	.	.	ENSG00000128250	ENST00000354373	T	0.69435	-0.4	0.723	0.723	0.18231	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	.	.	.	.	T	0.76990	0.4065	M	0.72894	2.215	0.09310	N	1	D	0.89917	1.0	D	0.87578	0.998	T	0.62421	-0.6858	9	0.87932	D	0	.	7.2768	0.26290	0.0:0.9999:0.0:1.0E-4	.	232	O75677	RFPL1_HUMAN	S	232	ENSP00000346342:P232S	ENSP00000346342:P232S	P	+	1	0	RFPL1	28167851	0.000000	0.05858	0.027000	0.17364	0.161000	0.22273	-0.245000	0.08890	0.669000	0.31146	0.184000	0.17185	CCG		0.522	RFPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318719.1	NM_021026		4	163	0	0	0	0.014758	0	4	163					T	29837851	C	T	29837851	3	4	12	1	0	0	0	0	1	0	0	0	13253	739	26	3	700	3	RFPL1	22	29837851	Missense_Mutation	SNP	C	TCGA-CH-5737-01A-11D-1576-08		29837851	21466715	109	501											
PLXNB2	23654	broad.mit.edu	37	chr22	50716066	50716066	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcaggcatccatgaaggtcTgcgcgatgactgacagcgag	10	7	14	10	3	1	3	0	3	1	0	2	5	2	3	1	2	3	2	1	2	1	0			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr22:50716066T>C	ENST00000449103.1	-	33	5290	c.5150A>G	c.(5149-5151)cAg>cGg	p.Q1717R	PLXNB2_ENST00000359337.4_Missense_Mutation_p.Q1717R			O15031	PLXB2_HUMAN	plexin B2	1717					brain development (GO:0007420)|neural tube closure (GO:0001843)|neuroblast proliferation (GO:0007405)|positive regulation of axonogenesis (GO:0050772)|regulation of cell shape (GO:0008360)|regulation of neuron migration (GO:2001222)|regulation of protein phosphorylation (GO:0001932)|regulation of Rho GTPase activity (GO:0032319)|semaphorin-plexin signaling pathway (GO:0071526)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)	GTPase activator activity (GO:0005096)|semaphorin receptor activity (GO:0017154)	p.Q1760R(1)		breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	66		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		CATGAAGGTCTGCGCGATGAC	0.627																																						ENST00000449103.1																			1	Substitution - Missense(1)	p.Q1760R(1)	prostate(1)	breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	66						c.(5149-5151)cAg>cGg		plexin B2							59	65	63					22																	50716066		2140	4260	6400	SO:0001583	missense	23654				regulation of small GTPase mediated signal transduction	integral to membrane|intracellular	GTPase activator activity|protein binding|receptor activity	g.chr22:50716066T>C		CCDS43035.1	22q13.33	2008-06-12			ENSG00000196576	ENSG00000196576		"Plexins"	9104	protein-coding gene	gene with protein product		604293				10520995, 12183458	Standard	NM_012401		Approved	MM1, KIAA0315, PLEXB2	uc003bkv.4	O15031	OTTHUMG00000150219	ENST00000449103.1:c.5150A>G	22.37:g.50716066T>C	ENSP00000409171:p.Gln1717Arg					PLXNB2_ENST00000359337.4_Missense_Mutation_p.Q1717R	p.Q1717R			O15031	PLXB2_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)	33	5290	-		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)	1717					A6QRH0|Q7KZU3|Q9BSU7	Missense_Mutation	SNP	ENST00000449103.1	37	c.5150A>G	CCDS43035.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	16.99|16.99	3.274483|3.274483	0.59649|0.59649	.|.	.|.	ENSG00000196576|ENSG00000196576	ENST00000449103;ENST00000359337|ENST00000399964	T;T|.	0.16324|.	2.35;2.35|.	3.94|3.94	3.94|3.94	0.45596|0.45596	Plexin, cytoplasmic RasGAP domain (1);Rho GTPase activation protein (1);Ras GTPase-activating protein (1);|.	0.000000|.	0.64402|.	D|.	0.000011|.	T|T	0.80727|0.80727	0.4678|0.4678	M|M	0.91972|0.91972	3.26|3.26	0.58432|0.58432	D|D	0.999999|0.999999	D|.	0.89917|.	1.0|.	D|.	0.97110|.	1.0|.	D|D	0.85411|0.85411	0.1137|0.1137	10|6	0.87932|0.87932	D|D	0|0	.|.	12.9635|12.9635	0.58472|0.58472	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	1717|.	O15031|.	PLXB2_HUMAN|.	R|G	1717|347	ENSP00000409171:Q1717R;ENSP00000352288:Q1717R|.	ENSP00000352288:Q1717R|ENSP00000382845:R347G	Q|R	-|-	2|1	0|2	PLXNB2|PLXNB2	49058193|49058193	1.000000|1.000000	0.71417|0.71417	0.980000|0.980000	0.43619|0.43619	0.103000|0.103000	0.19146|0.19146	5.853000|5.853000	0.69496|0.69496	1.648000|1.648000	0.50643|0.50643	0.402000|0.402000	0.26972|0.26972	CAG|AGA		0.627	PLXNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316874.3	NM_012401		3	119	0	0	0	0.150653	0	3	119					C	50716066	T	C	50716066	3	2	12	1	0	0	0	0	1	0	0	0	12124	1580	55	4	386	4	PLXNB2	22	50716066	Missense_Mutation	SNP	T	TCGA-CH-5737-01A-11D-1576-08	20878215	50716066	588500	110	502											
TSPAN7	7102	broad.mit.edu	37	chrX	38540490	38540490	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctggtaactagtttcatggaGactaacatgggaatcatcgc	12	11	10	8	1	2	1	2	0	0	1	3	3	2	2	0	3	2	2	0	3	4	4			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chrX:38540490G>C	ENST00000378482.2	+	6	807	c.630G>C	c.(628-630)gaG>gaC	p.E210D	TM4SF2_ENST00000465127.1_Missense_Mutation_p.E240D|TSPAN7_ENST00000545599.1_Missense_Mutation_p.E184D|TSPAN7_ENST00000422612.2_Missense_Mutation_p.E236D|TSPAN7_ENST00000286824.6_Missense_Mutation_p.E227D	NM_004615.3	NP_004606.2	P41732	TSN7_HUMAN	tetraspanin 7	210					viral process (GO:0016032)	integral component of plasma membrane (GO:0005887)		p.E210D(2)|p.E205D(1)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	11						GTTTCATGGAGACTAACATGG	0.478																																						ENST00000378482.2																			3	Substitution - Missense(3)	p.E210D(2)|p.E205D(1)	prostate(3)	haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	11						c.(628-630)gaG>gaC		tetraspanin 7							201	166	178					X																	38540490		2202	4300	6502	SO:0001583	missense	7102				interspecies interaction between organisms	integral to plasma membrane		g.chrX:38540490G>C	D29808	CCDS14248.1	Xp11.4	2013-02-14	2005-03-21	2005-03-21	ENSG00000156298	ENSG00000156298		"CD molecules", "Tetraspanins"	11854	protein-coding gene	gene with protein product		300096	"transmembrane 4 superfamily member 2", "mental retardation, X-linked 58"	MXS1, TM4SF2, MRX58		12070254	Standard	NM_004615		Approved	DXS1692E, TALLA-1, A15, CD231	uc004deg.4	P41732	OTTHUMG00000024090	ENST00000378482.2:c.630G>C	X.37:g.38540490G>C	ENSP00000367743:p.Glu210Asp					TM4SF2_ENST00000465127.1_Missense_Mutation_p.E240D|TSPAN7_ENST00000545599.1_Missense_Mutation_p.E184D|TSPAN7_ENST00000286824.6_Missense_Mutation_p.E227D|TSPAN7_ENST00000422612.2_Missense_Mutation_p.E236D	p.E210D	NM_004615.3	NP_004606.2	P41732	TSN7_HUMAN			6	807	+			210					B2R5W7|D3DWB1|Q8WVG5|Q9UEY9	Missense_Mutation	SNP	ENST00000378482.2	37	c.630G>C	CCDS14248.1	.	.	.	.	.	.	.	.	.	.	G	23.3	4.394450	0.83011	.	.	ENSG00000250349;ENSG00000156298;ENSG00000156298;ENSG00000156298;ENSG00000156298	ENST00000465127;ENST00000378482;ENST00000422612;ENST00000286824;ENST00000545599	T;T;T;T;T	0.79749	-1.3;-1.3;-1.3;-1.3;-1.3	5.0	5.0	0.66597	Tetraspanin, EC2 domain (1);	0.000000	0.85682	D	0.000000	D	0.86904	0.6045	M	0.78916	2.43	0.80722	D	1	P;P;P	0.51240	0.943;0.771;0.943	P;P;P	0.53722	0.733;0.53;0.733	D	0.87501	0.2433	9	.	.	.	.	17.6913	0.88269	0.0:0.0:1.0:0.0	.	227;236;210	B4DDG0;B4DEA5;P41732	.;.;TSN7_HUMAN	D	240;210;236;227;184	ENSP00000417050:E240D;ENSP00000367743:E210D;ENSP00000388954:E236D;ENSP00000286824:E227D;ENSP00000441540:E184D	.	E	+	3	2	RP5-972B16.2;TSPAN7	38425434	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.368000	0.52357	2.453000	0.82957	0.600000	0.82982	GAG		0.478	TSPAN7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356412.1			59	105	0	0	0	0.139131	0	59	105					C	38540490	G	C	38540490	3	2	12	1	0	0	0	0	1	0	0	0	16649	933	33	5	652	5	TSPAN7	23	38540490	Missense_Mutation	SNP	G	TCGA-CH-5737-01A-11D-1576-08		38540490	116730070	111	503											
ABCB7	22	broad.mit.edu	37	chrX	74318818	74318818	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cagcgaaatggcaactctagCtcgtagatctggcctgtctt	9	11	10	11	2	3	1	0	0	3	1	4	2	3	1	1	2	3	3	1	2	4	3			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chrX:74318818C>A	ENST00000373394.3	-	4	419	c.412G>T	c.(412-414)Gct>Tct	p.A138S	ABCB7_ENST00000339447.4_Intron|ABCB7_ENST00000253577.3_Missense_Mutation_p.A139S			O75027	ABCB7_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 7	138					cellular iron ion homeostasis (GO:0006879)|heme transport (GO:0015886)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|heme transporter activity (GO:0015232)	p.A139S(1)		breast(1)|endometrium(5)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)	20						GCAACTCTAGCTCGTAGATCT	0.363																																						ENST00000253577.3																			1	Substitution - Missense(1)	p.A139S(1)	prostate(1)	breast(1)|endometrium(5)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)	20						c.(415-417)Gct>Tct		ATP-binding cassette, sub-family B (MDR/TAP), member 7							119	100	107					X																	74318818		2203	4300	6503	SO:0001583	missense	22				cellular iron ion homeostasis	integral to membrane|mitochondrial inner membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|heme transporter activity	g.chrX:74318818C>A	AF038950	CCDS14428.1, CCDS65290.1, CCDS65291.1, CCDS75994.1	Xq13.3	2012-03-14			ENSG00000131269	ENSG00000131269		"ATP binding cassette transporters / subfamily B"	48	protein-coding gene	gene with protein product		300135		ABC7		9143506	Standard	NM_004299		Approved	EST140535, Atm1p, ASAT	uc004ebz.4	O75027	OTTHUMG00000021862	ENST00000373394.3:c.412G>T	X.37:g.74318818C>A	ENSP00000362492:p.Ala138Ser					ABCB7_ENST00000373394.3_Missense_Mutation_p.A138S|ABCB7_ENST00000339447.4_Intron	p.A139S	NM_001271696.1|NM_004299.3	NP_001258625.1|NP_004290.2	O75027	ABCB7_HUMAN			4	439	-			138					G3XAC4|O75345|Q5VWY7|Q5VWY8|Q9BRE1|Q9UND1|Q9UP01	Missense_Mutation	SNP	ENST00000373394.3	37	c.415G>T		.	.	.	.	.	.	.	.	.	.	C	12.25	1.881575	0.33255	.	.	ENSG00000131269	ENST00000535115;ENST00000253577;ENST00000373394;ENST00000529949;ENST00000534524;ENST00000526404	D;D;D;T	0.88124	-2.34;-2.34;-2.3;1.5	5.68	5.68	0.88126	ABC transporter, transmembrane domain, type 1 (1);	0.000000	0.85682	D	0.000000	D	0.83538	0.5276	L	0.39898	1.24	0.80722	D	1	B;B;B	0.28584	0.126;0.077;0.216	B;B;B	0.33799	0.07;0.052;0.17	T	0.79334	-0.1846	10	0.22109	T	0.4	0.5266	16.2258	0.82288	0.0:1.0:0.0:0.0	.	112;138;139	G3V1J3;O75027;O75027-2	.;ABCB7_HUMAN;.	S	112;139;138;112;83;151	ENSP00000253577:A139S;ENSP00000362492:A138S;ENSP00000436586:A112S;ENSP00000435521:A83S	ENSP00000253577:A139S	A	-	1	0	ABCB7	74235543	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	6.967000	0.76079	2.524000	0.85096	0.544000	0.68410	GCT		0.363	ABCB7-002	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000057274.1	NM_004299		55	70	1	0	9.16383e-17	0.139131	1.09169e-16	55	70					A	74318818	C	A	74318818	3	1	12	1	0	0	0	0	1	0	0	0	46	797	28	5	1898	5	ABCB7	23	74318818	Missense_Mutation	SNP	C	TCGA-CH-5737-01A-11D-1576-08	35778328	74318818	80951742	112	504											
OR10R2	343406	broad.mit.edu	37	chr1	158449980	158449980	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tacccaagatgctcatcaatCtactttctgtggccaggaca	11	11	7	12	0	4	1	2	0	2	1	4	2	4	2	2	2	3	1	2	2	4	3			TCGA-CH-5738-01A-11D-1576-08	TCGA-CH-5738-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2df47d25-97d9-4d8b-bd00-01bdfe040ceb	21323ad5-08ed-4261-a1cd-8a5f1457829e	g.chr1:158449980C>G	ENST00000368152.1	+	1	313	c.313C>G	c.(313-315)Cta>Gta	p.L105V	RP11-144L1.4_ENST00000419738.1_RNA|RP11-144L1.4_ENST00000426251.1_RNA	NM_001004472.1	NP_001004472.1	Q8NGX6	O10R2_HUMAN	olfactory receptor, family 10, subfamily R, member 2	105						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L105V(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(26)|pancreas(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	41	all_hematologic(112;0.0378)					GCTCATCAATCTACTTTCTGT	0.438																																						ENST00000368152.1																			1	Substitution - Missense(1)	p.L105V(1)	prostate(1)	breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(26)|pancreas(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	41						c.(313-315)Cta>Gta		olfactory receptor, family 10, subfamily R, member 2							343	291	309					1																	158449980		2203	4300	6503	SO:0001583	missense	343406				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158449980C>G	AB065640	CCDS30898.1	1q23.1	2012-08-09			ENSG00000198965	ENSG00000198965		"GPCR / Class A : Olfactory receptors"	14820	protein-coding gene	gene with protein product							Standard	NM_001004472		Approved	OR10R2Q	uc010pik.2	Q8NGX6	OTTHUMG00000019632	ENST00000368152.1:c.313C>G	1.37:g.158449980C>G	ENSP00000357134:p.Leu105Val					RP11-144L1.4_ENST00000426251.1_RNA|RP11-144L1.4_ENST00000419738.1_RNA	p.L105V	NM_001004472.1	NP_001004472.1	Q8NGX6	O10R2_HUMAN			1	313	+	all_hematologic(112;0.0378)		105					Q5VWM8|Q6IFS1|Q96R61	Missense_Mutation	SNP	ENST00000368152.1	37	c.313C>G	CCDS30898.1	.	.	.	.	.	.	.	.	.	.	c	14.67	2.604739	0.46423	.	.	ENSG00000198965	ENST00000368152	T	0.00408	7.54	4.28	3.36	0.38483	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00580	0.0019	M	0.89214	3.015	0.09310	N	1	D	0.89917	1.0	D	0.91635	0.999	T	0.43637	-0.9379	9	0.87932	D	0	.	8.4331	0.32771	0.0:0.8078:0.0:0.1922	.	105	Q8NGX6	O10R2_HUMAN	V	105	ENSP00000357134:L105V	ENSP00000357134:L105V	L	+	1	2	OR10R2	156716604	0.000000	0.05858	0.066000	0.19879	0.996000	0.88848	-0.697000	0.05098	0.981000	0.38548	0.655000	0.94253	CTA		0.438	OR10R2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051847.2	NM_001004472		6	603	0	0	0	0.217242	0	6	603					G	158449980	C	G	158449980	3	3	13	1	0	0	0	0	1	0	0	0	10917	912	32	5	315	5	OR10R2	1	158449980	Missense_Mutation	SNP	C	TCGA-CH-5738-01A-11D-1576-08		158449980	90800641	1	505											
VSIG8	391123	broad.mit.edu	37	chr1	159827904	159827904	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gacagtgacaatgaccttccGggtggccatggtggtcttct	7	11	13	10	1	2	2	0	2	2	0	3	3	3	2	3	4	0	0	3	4	1	2	rs112455697		TCGA-CH-5738-01A-11D-1576-08	TCGA-CH-5738-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2df47d25-97d9-4d8b-bd00-01bdfe040ceb	21323ad5-08ed-4261-a1cd-8a5f1457829e	g.chr1:159827904G>A	ENST00000368100.1	-	3	541	c.406C>T	c.(406-408)Cgg>Tgg	p.R136W	C1orf204_ENST00000368102.1_5'Flank|RP11-190A12.7_ENST00000544342.1_Intron	NM_001013661.1	NP_001013683.1	Q5VU13	VSIG8_HUMAN	V-set and immunoglobulin domain containing 8	136	Ig-like V-type 1.					integral component of membrane (GO:0016021)|intracellular (GO:0005622)	poly(A) RNA binding (GO:0044822)	p.R136W(1)		central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	8	all_hematologic(112;0.0597)					ATGACCTTCCGGGTGGCCATG	0.557																																						ENST00000368100.1																			1	Substitution - Missense(1)	p.R136W(1)	prostate(1)	central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	8						c.(406-408)Cgg>Tgg		V-set and immunoglobulin domain containing 8							95	79	85					1																	159827904		2203	4300	6503	SO:0001583	missense	391123					integral to membrane		g.chr1:159827904G>A		CCDS30913.1	1q23.2	2013-01-11			ENSG00000243284	ENSG00000243284		"Immunoglobulin superfamily / V-set domain containing"	32063	protein-coding gene	gene with protein product							Standard	NM_001013661		Approved		uc001fuh.3	Q5VU13	OTTHUMG00000168834	ENST00000368100.1:c.406C>T	1.37:g.159827904G>A	ENSP00000357080:p.Arg136Trp					RP11-190A12.7_ENST00000544342.1_Intron	p.R136W	NM_001013661.1	NP_001013683.1	Q5VU13	VSIG8_HUMAN			3	541	-	all_hematologic(112;0.0597)		136			Ig-like V-type 1.		Q5VU14	Missense_Mutation	SNP	ENST00000368100.1	37	c.406C>T	CCDS30913.1	.	.	.	.	.	.	.	.	.	.	G	16.79	3.220387	0.58560	.	.	ENSG00000243284	ENST00000368100	T	0.50001	0.76	5.39	2.39	0.29439	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.051124	0.85682	D	0.000000	T	0.18593	0.0446	L	0.39245	1.2	0.47949	D	0.999556	B	0.18310	0.027	B	0.15484	0.013	T	0.07214	-1.0784	10	0.66056	D	0.02	.	6.2104	0.20626	0.0878:0.0:0.572:0.3403	.	136	Q5VU13	VSIG8_HUMAN	W	136	ENSP00000357080:R136W	ENSP00000357080:R136W	R	-	1	2	VSIG8	158094528	1.000000	0.71417	0.997000	0.53966	0.847000	0.48162	2.350000	0.44063	0.217000	0.20800	-0.314000	0.08810	CGG		0.557	VSIG8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085978.8	NM_001013661		32	75	0	0	0	0.740014	0	32	75					A	159827904	G	A	159827904	3	1	13	1	0	0	0	0	1	0	0	0	17223	1115	39	2	858	2	VSIG8	1	159827904	Missense_Mutation	SNP	G	TCGA-CH-5738-01A-11D-1576-08	1377924	159827904	89422717	2	506											
FMOD	2331	broad.mit.edu	37	chr1	203316790	203316790	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgtgttggaggtacaaggcCgtgaggttctccagcccctc	6	11	13	11	1	1	1	0	1	1	0	3	2	1	2	4	4	2	3	4	4	2	4	rs374060031		TCGA-CH-5738-01A-11D-1576-08	TCGA-CH-5738-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2df47d25-97d9-4d8b-bd00-01bdfe040ceb	21323ad5-08ed-4261-a1cd-8a5f1457829e	g.chr1:203316790C>T	ENST00000354955.4	-	2	1072	c.609G>A	c.(607-609)acG>acA	p.T203T	FMOD_ENST00000493296.1_Intron	NM_002023.4	NP_002014.2	Q06828	FMOD_HUMAN	fibromodulin	203					carbohydrate metabolic process (GO:0005975)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|small molecule metabolic process (GO:0044281)|transforming growth factor beta receptor complex assembly (GO:0007181)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)		p.T203T(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	17			BRCA - Breast invasive adenocarcinoma(75;0.171)			GGTACAAGGCCGTGAGGTTCT	0.582																																						ENST00000354955.4																			1	Substitution - coding silent(1)	p.T203T(1)	prostate(1)	breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	17						c.(607-609)acG>acA		fibromodulin		C		1,4405	2.1+/-5.4	0,1,2202	112	112	112		609	-10.4	0.1	1		112	0,8600		0,0,4300	no	coding-synonymous	FMOD	NM_002023.3		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		203/377	203316790	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	2331				transforming growth factor beta receptor complex assembly	extracellular space|proteinaceous extracellular matrix		g.chr1:203316790C>T	U05291	CCDS30976.1	1q32	2008-02-05			ENSG00000122176	ENSG00000122176		"Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"	3774	protein-coding gene	gene with protein product	"fibromodulin proteoglycan"	600245				7851907	Standard	NM_002023		Approved	SLRR2E	uc001gzr.3	Q06828	OTTHUMG00000035910	ENST00000354955.4:c.609G>A	1.37:g.203316790C>T						FMOD_ENST00000464898.1_5'UTR	p.T203T	NM_002023.4	NP_002014.2	Q06828	FMOD_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.171)		2	1072	-			203					Q15331|Q8IV47	Silent	SNP	ENST00000354955.4	37	c.609G>A	CCDS30976.1	.	.	.	.	.	.	.	.	.	.	C	3.726	-0.056527	0.07362	2.27E-4	0.0	ENSG00000122176	ENST00000539467	.	.	.	5.18	-10.4	0.00318	.	.	.	.	.	T	0.61048	0.2316	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.77515	-0.2559	5	0.56958	D	0.05	-18.9309	10.3996	0.44222	0.0791:0.5638:0.1607:0.1964	.	.	.	.	Q	182	.	ENSP00000438680:R182Q	R	-	2	0	FMOD	201583413	0.000000	0.05858	0.145000	0.22337	0.812000	0.45895	-8.119000	0.00024	-3.403000	0.00170	-1.004000	0.02495	CGG		0.582	FMOD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087472.1	NM_002023		73	242	0	0	0	0.870114	0	73	242					T	203316790	C	T	203316790	2	4	13	1	0	0	0	0	0	0	0	1	5959	639	23	2		2	FMOD	1	203316790	Silent	SNP	C	TCGA-CH-5738-01A-11D-1576-08	43488886	203316790	45933831	3	507											
ZC3H11A	9877	broad.mit.edu	37	chr1	203819752	203819752	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gctgctgtcattgccgctgtGaagccactcagctccagcag	7	9	11	14	1	2	1	2	1	0	0	3	1	3	1	3	0	5	5	3	0	1	1			TCGA-CH-5738-01A-11D-1576-08	TCGA-CH-5738-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2df47d25-97d9-4d8b-bd00-01bdfe040ceb	21323ad5-08ed-4261-a1cd-8a5f1457829e	g.chr1:203819752G>A	ENST00000545588.1	+	15	5876	c.2049G>A	c.(2047-2049)gtG>gtA	p.V683V	ZC3H11A_ENST00000367214.1_Silent_p.V683V|ZC3H11A_ENST00000367210.1_Silent_p.V683V|ZC3H11A_ENST00000332127.4_Silent_p.V683V|ZC3H11A_ENST00000367212.3_Silent_p.V683V	NM_001271675.1	NP_001258604.1	O75152	ZC11A_HUMAN	zinc finger CCCH-type containing 11A	683					poly(A)+ mRNA export from nucleus (GO:0016973)		metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.V683V(1)		central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32	all_cancers(21;0.0904)|all_epithelial(62;0.234)		BRCA - Breast invasive adenocarcinoma(75;0.109)			TTGCCGCTGTGAAGCCACTCA	0.498																																						ENST00000545588.1																			1	Substitution - coding silent(1)	p.V683V(1)	prostate(1)	central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32						c.(2047-2049)gtG>gtA		zinc finger CCCH-type containing 11A							82	81	81					1																	203819752		2203	4300	6503	SO:0001819	synonymous_variant	9877						nucleic acid binding|protein binding|zinc ion binding	g.chr1:203819752G>A		CCDS30978.1	1q32.1	2012-07-05	2005-06-02	2005-06-02	ENSG00000058673	ENSG00000058673		"Zinc fingers, CCCH-type domain containing"	29093	protein-coding gene	gene with protein product		613513	"zinc finger CCCH-type domain containing 11A"	ZC3HDC11A		9734811	Standard	NM_014827		Approved	KIAA0663	uc001hac.3	O75152	OTTHUMG00000035909	ENST00000545588.1:c.2049G>A	1.37:g.203819752G>A						ZC3H11A_ENST00000367214.1_Silent_p.V683V|ZC3H11A_ENST00000367212.3_Silent_p.V683V|ZC3H11A_ENST00000332127.4_Silent_p.V683V|ZC3H11A_ENST00000367210.1_Silent_p.V683V	p.V683V	NM_001271675.1	NP_001258604.1	O75152	ZC11A_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.109)		15	5876	+	all_cancers(21;0.0904)|all_epithelial(62;0.234)		683					Q6AHY4|Q6AHY9|Q6AW79|Q6AWA1|Q6PJK4|Q86XZ7	Silent	SNP	ENST00000545588.1	37	c.2049G>A	CCDS30978.1																																																																																				0.498	ZC3H11A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087471.3	NM_014827		5	52	0	0	0	0.608945	0	5	52					A	203819752	G	A	203819752	2	1	13	1	0	0	0	0	0	0	0	1	17557	1277	45	3		3	ZC3H11A	1	203819752	Silent	SNP	G	TCGA-CH-5738-01A-11D-1576-08	502962	203819752	45430869	4	508											
ITGB6	3694	broad.mit.edu	37	chr2	160994176	160994176	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agggtggcaggcacacacccCacactggaaagagccgttcc	11	4	12	14	1	0	1	0	0	0	1	1	2	1	2	4	4	1	3	4	4	1	1			TCGA-CH-5738-01A-11D-1576-08	TCGA-CH-5738-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2df47d25-97d9-4d8b-bd00-01bdfe040ceb	21323ad5-08ed-4261-a1cd-8a5f1457829e	g.chr2:160994176C>A	ENST00000283249.2	-	10	1666	c.1429G>T	c.(1429-1431)Ggg>Tgg	p.G477W	ITGB6_ENST00000428609.2_Missense_Mutation_p.G435W|ITGB6_ENST00000409872.1_Missense_Mutation_p.G477W|ITGB6_ENST00000409967.2_Missense_Mutation_p.G477W	NM_001282353.1|NM_001282354.1|NM_001282388.1	NP_001269282.1|NP_001269283.1|NP_001269317.1	P18564	ITB6_HUMAN	integrin, beta 6	477	Cysteine-rich tandem repeats.				cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)|inflammatory response (GO:0006954)|integrin-mediated signaling pathway (GO:0007229)|multicellular organismal development (GO:0007275)|viral process (GO:0016032)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	virus receptor activity (GO:0001618)	p.G477W(2)		breast(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	23						GCACACACCCCACACTGGAAA	0.572																																						ENST00000283249.2																			2	Substitution - Missense(2)	p.G477W(2)	prostate(2)	breast(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	23						c.(1429-1431)Ggg>Tgg		integrin, beta 6							69	50	57					2																	160994176		2203	4300	6503	SO:0001583	missense	3694				cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|multicellular organismal development	integrin complex	receptor activity	g.chr2:160994176C>A		CCDS2212.1, CCDS63040.1, CCDS74596.1, CCDS74597.1	2q24.2	2010-03-23			ENSG00000115221	ENSG00000115221		"Integrins"	6161	protein-coding gene	gene with protein product		147558				1729173, 8120056	Standard	NM_001282353		Approved		uc002ubh.2	P18564	OTTHUMG00000132026	ENST00000283249.2:c.1429G>T	2.37:g.160994176C>A	ENSP00000283249:p.Gly477Trp					ITGB6_ENST00000409872.1_Missense_Mutation_p.G477W|ITGB6_ENST00000409967.2_Missense_Mutation_p.G477W|ITGB6_ENST00000428609.2_Missense_Mutation_p.G435W	p.G477W			P18564	ITB6_HUMAN			10	1666	-			477			Cysteine-rich tandem repeats.		B2R9W5|C9JA97|Q0VA95|Q16500|Q53RG5|Q53RR6	Missense_Mutation	SNP	ENST00000283249.2	37	c.1429G>T	CCDS2212.1	.	.	.	.	.	.	.	.	.	.	C	25.2	4.618527	0.87359	.	.	ENSG00000115221	ENST00000283249;ENST00000428609;ENST00000409967;ENST00000409872	T;T;T;T	0.64260	-0.09;-0.09;-0.09;-0.09	5.39	5.39	0.77823	.	0.000000	0.85682	D	0.000000	D	0.87775	0.6262	H	0.97783	4.075	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.92010	0.5617	10	0.87932	D	0	.	19.5146	0.95157	0.0:1.0:0.0:0.0	.	435;477	E9PEE8;P18564	.;ITB6_HUMAN	W	477;435;477;477	ENSP00000283249:G477W;ENSP00000408024:G435W;ENSP00000386828:G477W;ENSP00000386367:G477W	ENSP00000283249:G477W	G	-	1	0	ITGB6	160702422	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	7.776000	0.85560	2.690000	0.91761	0.655000	0.94253	GGG		0.572	ITGB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255036.1	NM_000888		4	92	1	0	0.150653	0.150653	0.156233	4	92					A	160994176	C	A	160994176	3	1	13	1	0	0	0	0	1	0	0	0	7899	594	21	5	961	5	ITGB6	2	160994176	Missense_Mutation	SNP	C	TCGA-CH-5738-01A-11D-1576-08		160994176	82205197	5	509											
TTN	7273	broad.mit.edu	37	chr2	179444120	179444120	+	Splice_Site	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttaagtcaagatcaggagccActgtaaaatagcagagataa	18	8	9	6	0	2	2	2	0	0	2	2	4	2	3	1	1	2	2	1	1	6	4			TCGA-CH-5738-01A-11D-1576-08	TCGA-CH-5738-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2df47d25-97d9-4d8b-bd00-01bdfe040ceb	21323ad5-08ed-4261-a1cd-8a5f1457829e	g.chr2:179444120A>T	ENST00000591111.1	-	270	62938	c.62714T>A	c.(62713-62715)gTg>gAg	p.V20905E	TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Splice_Site_p.V13673E|TTN_ENST00000342992.6_Splice_Site_p.V19978E|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000586831.1_RNA|RP11-171I2.2_ENST00000603521.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000359218.5_Splice_Site_p.V13606E|TTN_ENST00000460472.2_Splice_Site_p.V13481E|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000456053.1_RNA|RP11-171I2.5_ENST00000604215.1_RNA|TTN_ENST00000589042.1_Splice_Site_p.V22546E|TTN-AS1_ENST00000590932.1_RNA			Q8WZ42	TITIN_HUMAN	titin	20905	Fibronectin type-III 51. {ECO:0000255|PROSITE-ProRule:PRU00316}.|Ig-like 112.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.V13481E(2)|p.V19976E(1)|p.V13606E(1)|p.V19978E(1)|p.V13673E(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATCAGGAGCCACTGTAAAATA	0.378																																						ENST00000589042.1																			6	Substitution - Missense(6)	p.V13481E(2)|p.V19976E(1)|p.V13606E(1)|p.V19978E(1)|p.V13673E(1)	prostate(6)	NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.e320-1		titin							35	34	34					2																	179444120		1840	4079	5919	SO:0001630	splice_region_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179444120A>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.62714-1T>A	2.37:g.179444120A>T						TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000359218.5_Splice_Site_p.V13606_splice|TTN_ENST00000342992.6_Splice_Site_p.V19978_splice|TTN_ENST00000342175.6_Splice_Site_p.V13673_splice|TTN-AS1_ENST00000586707.1_RNA|RP11-171I2.2_ENST00000603521.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000591111.1_Splice_Site_p.V20905_splice|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Splice_Site_p.V13481_splice|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000438095.1_RNA	p.V22546_splice	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		320	67861	-			20905			Fibronectin type-III 63.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Splice_Site	SNP	ENST00000591111.1	37	c.67636_splice		.	.	.	.	.	.	.	.	.	.	A	12.50	1.955618	0.34471	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.65732	-0.17;0.02;0.01;-0.01	5.68	5.68	0.88126	Fibronectin, type III (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.49236	0.1545	N	0.20986	0.625	0.58432	D	0.99999	P;P;P;P	0.50272	0.883;0.883;0.883;0.933	B;B;B;B	0.41860	0.368;0.368;0.368;0.368	T	0.56950	-0.7894	9	0.87932	D	0	.	12.0543	0.53524	0.9307:0.0:0.0693:0.0	.	13481;13606;13673;20905	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	E	19978;13481;13673;13606;13479	ENSP00000343764:V19978E;ENSP00000434586:V13481E;ENSP00000340554:V13673E;ENSP00000352154:V13606E	ENSP00000340554:V13673E	V	-	2	0	TTN	179152366	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.433000	0.80362	2.284000	0.76573	0.533000	0.62120	GTG		0.378	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	Missense_Mutation	4	76	0	0	0	0.184627	0	4	76					T	179444120	A	T	179444120	5	4	13	1	0	0	0	0	0	0	1	0	16732	173	6	5	40514	5	TTN	2	179444120	Splice_Site	SNP	A	TCGA-CH-5738-01A-11D-1576-08	18449944	179444120	63755253	6	510											
AOX1	316	broad.mit.edu	37	chr2	201468741	201468741	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgatatgttctctttttagaCaagtccaaaactcttcgcag	11	15	6	9	1	2	2	0	1	2	1	5	2	3	2	1	0	1	2	1	0	5	6			TCGA-CH-5738-01A-11D-1576-08	TCGA-CH-5738-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2df47d25-97d9-4d8b-bd00-01bdfe040ceb	21323ad5-08ed-4261-a1cd-8a5f1457829e	g.chr2:201468741C>A	ENST00000374700.2	+	8	831	c.590C>A	c.(589-591)aCa>aAa	p.T197K		NM_001159.3	NP_001150.3	Q06278	AOXA_HUMAN	aldehyde oxidase 1	197					inflammatory response (GO:0006954)|reactive oxygen species metabolic process (GO:0072593)|small molecule metabolic process (GO:0044281)|vitamin B6 metabolic process (GO:0042816)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	2 iron, 2 sulfur cluster binding (GO:0051537)|aldehyde oxidase activity (GO:0004031)|electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|iron ion binding (GO:0005506)|molybdopterin cofactor binding (GO:0043546)|NAD binding (GO:0051287)|UDP-N-acetylmuramate dehydrogenase activity (GO:0008762)|xanthine dehydrogenase activity (GO:0004854)	p.T197K(1)		breast(5)|endometrium(3)|kidney(4)|large_intestine(13)|lung(38)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	81					Allopurinol(DB00437)|Aminocaproic Acid(DB00513)|Brimonidine(DB00484)|Famciclovir(DB00426)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|Pyrazinamide(DB00339)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909)	TCTTTTTAGACAAGTCCAAAA	0.383																																						ENST00000374700.2																			1	Substitution - Missense(1)	p.T197K(1)	prostate(1)	breast(5)|endometrium(3)|kidney(4)|large_intestine(13)|lung(38)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	81						c.e8-1		aldehyde oxidase 1	Brimonidine(DB00484)|Chlorpromazine(DB00477)|Famciclovir(DB00426)|Menadione(DB00170)|Methotrexate(DB00563)|NADH(DB00157)|Palonosetron(DB00377)|Penciclovir(DB00299)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909)						65	65	65					2																	201468741		2203	4300	6503	SO:0001630	splice_region_variant	316				inflammatory response|reactive oxygen species metabolic process	cytoplasm	2 iron, 2 sulfur cluster binding|aldehyde oxidase activity|flavin adenine dinucleotide binding|iron ion binding|NAD binding|xanthine dehydrogenase activity	g.chr2:201468741C>A	AF017060	CCDS33360.1	2q33	2008-05-20			ENSG00000138356	ENSG00000138356			553	protein-coding gene	gene with protein product		602841				7570184	Standard	NM_001159		Approved	AO, AOH1	uc002uvx.3	Q06278	OTTHUMG00000154536	ENST00000374700.2:c.589-1C>A	2.37:g.201468741C>A							p.T197_splice	NM_001159.3	NP_001150.3	Q06278	ADO_HUMAN			8	831	+			197					O14765|Q53RR8|Q53TV3|Q9BYF0|Q9UPG6	Splice_Site	SNP	ENST00000374700.2	37	c.588_splice	CCDS33360.1	.	.	.	.	.	.	.	.	.	.	C	0.010	-1.788435	0.00628	.	.	ENSG00000138356	ENST00000374700	T	0.53857	0.6	5.46	1.74	0.24563	[2Fe-2S]-binding (2);	0.671285	0.14912	N	0.291178	T	0.41282	0.1152	M	0.67700	2.07	0.23107	N	0.998289	B	0.14012	0.009	B	0.14578	0.011	T	0.39820	-0.9595	10	0.05959	T	0.93	-6.6264	5.5637	0.17158	0.1246:0.4692:0.0:0.4062	.	197	Q06278	ADO_HUMAN	K	197	ENSP00000363832:T197K	ENSP00000363832:T197K	T	+	2	0	AOX1	201176986	0.000000	0.05858	0.152000	0.22495	0.016000	0.09150	-0.286000	0.08399	0.145000	0.18977	-0.150000	0.13652	ACA		0.383	AOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335844.1	NM_001159	Missense_Mutation	10	146	1	0	1.76689e-08	0.335167	2.151e-08	10	146					A	201468741	C	A	201468741	5	1	13	1	0	0	0	0	0	0	1	0	729	492	17	5	620	5	AOX1	2	201468741	Splice_Site	SNP	C	TCGA-CH-5738-01A-11D-1576-08	22024621	201468741	41730632	7	511											
PIKFYVE	200576	broad.mit.edu	37	chr2	209190217	209190217	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcattccattccctgattgaGggacgagggcatgagggggc	8	9	15	9	1	1	3	1	3	0	0	3	5	3	4	2	4	0	1	2	4	0	3	rs139157818	byFrequency	TCGA-CH-5738-01A-11D-1576-08	TCGA-CH-5738-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2df47d25-97d9-4d8b-bd00-01bdfe040ceb	21323ad5-08ed-4261-a1cd-8a5f1457829e	g.chr2:209190217G>T	ENST00000264380.4	+	20	2840	c.2682G>T	c.(2680-2682)gaG>gaT	p.E894D		NM_015040.3	NP_055855.2	Q9Y2I7	FYV1_HUMAN	phosphoinositide kinase, FYVE finger containing	894					cellular protein metabolic process (GO:0044267)|intracellular signal transduction (GO:0035556)|myelin assembly (GO:0032288)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phospholipid metabolic process (GO:0006644)|protein localization to nucleus (GO:0034504)|retrograde transport, endosome to Golgi (GO:0042147)|small molecule metabolic process (GO:0044281)	cell-cell junction (GO:0005911)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|early endosome membrane (GO:0031901)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|late endosome membrane (GO:0031902)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|vesicle membrane (GO:0012506)	1-phosphatidylinositol-3-phosphate 5-kinase activity (GO:0000285)|1-phosphatidylinositol-4-phosphate 5-kinase activity (GO:0016308)|ATP binding (GO:0005524)|phosphatidylinositol-3,5-bisphosphate 5-phosphatase activity (GO:0043813)|zinc ion binding (GO:0008270)	p.E894D(2)		NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(14)|kidney(6)|large_intestine(25)|lung(40)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	107						CCCTGATTGAGGGACGAGGGC	0.493																																						ENST00000264380.4																			2	Substitution - Missense(2)	p.E894D(2)	prostate(2)	NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(14)|kidney(6)|large_intestine(25)|lung(40)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	107						c.(2680-2682)gaG>gaT		phosphoinositide kinase, FYVE finger containing							107	105	106					2																	209190217		2203	4300	6503	SO:0001583	missense	200576				cellular protein metabolic process|intracellular signal transduction|protein localization to nucleus|retrograde transport, endosome to Golgi	early endosome membrane|membrane raft	1-phosphatidylinositol-3-phosphate 5-kinase activity|1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|metal ion binding|protein binding	g.chr2:209190217G>T	AB023198	CCDS2382.1, CCDS33368.1, CCDS54431.1	2q34	2014-01-15	2009-04-17	2009-04-17	ENSG00000115020	ENSG00000115020		"Zinc fingers, FYVE domain containing"	23785	protein-coding gene	gene with protein product	"zinc finger, FYVE domain containing 29"	609414	"phosphatidylinositol-3-phosphate/phosphatidylinositol 5-kinase, type III"	PIP5K3		9858586, 12270933	Standard	NM_015040		Approved	MGC40423, KIAA0981, PIKfyve, PIP5K, p235, ZFYVE29, FAB1	uc002vcz.3	Q9Y2I7	OTTHUMG00000132945	ENST00000264380.4:c.2682G>T	2.37:g.209190217G>T	ENSP00000264380:p.Glu894Asp						p.E894D	NM_015040.3	NP_055855.2	Q9Y2I7	FYV1_HUMAN			20	2840	+			894					Q08AR7|Q08AR8|Q53ST3|Q53T36|Q8N5H0|Q8NB67	Missense_Mutation	SNP	ENST00000264380.4	37	c.2682G>T	CCDS2382.1	.	.	.	.	.	.	.	.	.	.	G	10.84	1.463971	0.26335	.	.	ENSG00000115020	ENST00000264380;ENST00000392200;ENST00000452564	T;T	0.31510	1.49;1.74	6.07	2.99	0.34606	.	0.143287	0.46145	N	0.000306	T	0.41880	0.1178	M	0.67953	2.075	0.80722	D	1	B;D	0.58268	0.022;0.982	B;D	0.67548	0.011;0.952	T	0.44817	-0.9303	10	0.13853	T	0.58	-19.5159	4.6078	0.12387	0.2843:0.0:0.5558:0.1599	.	894;838	Q9Y2I7;E9PDH4	FYV1_HUMAN;.	D	894;470;838	ENSP00000264380:E894D;ENSP00000405736:E838D	ENSP00000264380:E894D	E	+	3	2	PIKFYVE	208898462	1.000000	0.71417	0.997000	0.53966	0.046000	0.14306	1.140000	0.31516	0.922000	0.37019	-0.133000	0.14855	GAG		0.493	PIKFYVE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256477.2	NM_015040		5	262	1	0	0.0215528	0.217242	0.0236658	5	262					T	209190217	G	T	209190217	3	4	13	1	0	0	0	0	1	0	0	0	11924	991	35	5	2767	5	PIKFYVE	2	209190217	Missense_Mutation	SNP	G	TCGA-CH-5738-01A-11D-1576-08	7721476	209190217	34009156	8	512											
SLC6A1	6529	broad.mit.edu	37	chr3	11078641	11078641	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gcagctccaccagcaaggagGcctacatctagggtgggggc	9	5	15	12	0	1	0	0	0	1	0	2	1	2	1	3	5	3	3	3	5	3	2			TCGA-CH-5738-01A-11D-1576-08	TCGA-CH-5738-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2df47d25-97d9-4d8b-bd00-01bdfe040ceb	21323ad5-08ed-4261-a1cd-8a5f1457829e	g.chr3:11078641G>T	ENST00000287766.4	+	16	2210	c.1789G>T	c.(1789-1791)Gcc>Tcc	p.A597S	SLC6A1_ENST00000536032.1_Missense_Mutation_p.A419S	NM_003042.3	NP_003033.3	P30531	SC6A1_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 1	597					gamma-aminobutyric acid import (GO:0051939)|learning (GO:0007612)|negative regulation of synaptic transmission, GABAergic (GO:0032229)|neurotransmitter secretion (GO:0007269)|positive regulation of gamma-aminobutyric acid secretion (GO:0014054)|protein homooligomerization (GO:0051260)|response to calcium ion (GO:0051592)|response to cocaine (GO:0042220)|response to estradiol (GO:0032355)|response to lead ion (GO:0010288)|response to purine-containing compound (GO:0014074)|response to sucrose (GO:0009744)|response to toxic substance (GO:0009636)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	axon (GO:0030424)|cell surface (GO:0009986)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	gamma-aminobutyric acid:sodium symporter activity (GO:0005332)|neurotransmitter:sodium symporter activity (GO:0005328)	p.A597S(1)		breast(1)|endometrium(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	26		Ovarian(110;0.0392)		OV - Ovarian serous cystadenocarcinoma(96;0.00099)	Clobazam(DB00349)|Tiagabine(DB00906)	CAGCAAGGAGGCCTACATCTA	0.627																																						ENST00000287766.4																			1	Substitution - Missense(1)	p.A597S(1)	prostate(1)	breast(1)|endometrium(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	26						c.(1789-1791)Gcc>Tcc		solute carrier family 6 (neurotransmitter transporter), member 1	Cocaine(DB00907)|Tiagabine(DB00906)						56	54	55					3																	11078641		2203	4300	6503	SO:0001583	missense	6529				neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity	g.chr3:11078641G>T		CCDS2603.1	3p25.3	2013-07-19	2013-07-19		ENSG00000157103	ENSG00000157103		"Solute carriers"	11042	protein-coding gene	gene with protein product	"GABA transporter 1"	137165	"solute carrier family 6 (neurotransmitter transporter, GABA), member 1"			8530094	Standard	NM_003042		Approved	GAT1, GABATR, GABATHG	uc010hdq.3	P30531	OTTHUMG00000044208	ENST00000287766.4:c.1789G>T	3.37:g.11078641G>T	ENSP00000287766:p.Ala597Ser					SLC6A1_ENST00000536032.1_Missense_Mutation_p.A419S	p.A597S	NM_003042.3	NP_003033.3	P30531	SC6A1_HUMAN		OV - Ovarian serous cystadenocarcinoma(96;0.00099)	16	2210	+		Ovarian(110;0.0392)	597					Q8N4K8	Missense_Mutation	SNP	ENST00000287766.4	37	c.1789G>T	CCDS2603.1	.	.	.	.	.	.	.	.	.	.	G	17.28	3.348977	0.61183	.	.	ENSG00000157103	ENST00000287766;ENST00000536032	T;T	0.74947	-0.76;-0.89	4.15	4.15	0.48705	.	0.189542	0.24978	U	0.034097	T	0.56934	0.2019	N	0.08118	0	0.51233	D	0.999918	P	0.42908	0.793	B	0.38842	0.283	T	0.66204	-0.5982	10	0.52906	T	0.07	.	16.4418	0.83903	0.0:0.0:1.0:0.0	.	597	P30531	SC6A1_HUMAN	S	597;419	ENSP00000287766:A597S;ENSP00000445171:A419S	ENSP00000287766:A597S	A	+	1	0	SLC6A1	11053641	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.693000	0.84214	1.865000	0.54081	0.467000	0.42956	GCC		0.627	SLC6A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102767.2	NM_003042		7	67	1	0	0.0293803	0.248553	0.0316404	7	67					T	11078641	G	T	11078641	3	4	13	1	0	0	0	0	1	0	0	0	14673	1203	42	5	1843	5	SLC6A1	3	11078641	Missense_Mutation	SNP	G	TCGA-CH-5738-01A-11D-1576-08		11078641	186943789	9	513											
RASL11B	65997	broad.mit.edu	37	chr4	53730662	53730662	+	Frame_Shift_Del	DEL	C	C	-																															taggtaatctctatactagaCaagttcagatagaaggtgaa																										TCGA-CH-5738-01A-11D-1576-08	TCGA-CH-5738-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2df47d25-97d9-4d8b-bd00-01bdfe040ceb	21323ad5-08ed-4261-a1cd-8a5f1457829e	g.chr4:53730662delC	ENST00000248706.3	+	3	435	c.217delC	c.(217-219)caafs	p.Q73fs	RASL11B_ENST00000505041.1_3'UTR	NM_023940.2	NP_076429.1			RAS-like, family 11, member B											autonomic_ganglia(1)|central_nervous_system(1)|lung(5)|ovary(1)|stomach(1)	9			LUSC - Lung squamous cell carcinoma(32;0.0302)			CTATACTAGACAAGTTCAGAT	0.378																																						ENST00000248706.3																			0				autonomic_ganglia(1)|central_nervous_system(1)|lung(5)|ovary(1)|stomach(1)	9						c.(217-219)aafs		RAS-like, family 11, member B							175	190	185					4																	53730662		2203	4300	6503	SO:0001589	frameshift_variant	65997				small GTPase mediated signal transduction	membrane	GTP binding|GTPase activity	g.chr4:53730662delC	BK001672	CCDS3490.1	4q12	2014-05-09			ENSG00000128045	ENSG00000128045			23804	protein-coding gene	gene with protein product		612404					Standard	NM_023940		Approved		uc003gzt.3	Q9BPW5	OTTHUMG00000102097	ENST00000248706.3:c.217delC	4.37:g.53730662delC	ENSP00000248706:p.Gln73fs					RASL11B_ENST00000505041.1_3'UTR	p.Q73fs	NM_023940.2	NP_076429.1	Q9BPW5	RSLBB_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.0302)		3	435	+			73			Small GTPase-like.			Frame_Shift_Del	DEL	ENST00000248706.3	37	c.217delC	CCDS3490.1																																																																																				0.378	RASL11B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219931.2	NM_023940		7	785						7	785	---	---	---	---	-	53730662	C	-	53730662	7	5	13	1	0	1	0	1	0	0	0	0	13082	479	17	0	227	0	RASL11B	4	53730662	Frame_Shift_Del	DEL	C	TCGA-CH-5738-01A-11D-1576-08		53730662	137423614	10	514											
C4orf21	55345	broad.mit.edu	37	chr4	113468559	113468559	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caagaatcagcttttcacacTcaaacctaaaacagaatttc	17	10	3	11	0	3	2	3	0	0	2	4	2	3	2	1	0	3	1	1	0	6	4			TCGA-CH-5738-01A-11D-1576-08	TCGA-CH-5738-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2df47d25-97d9-4d8b-bd00-01bdfe040ceb	21323ad5-08ed-4261-a1cd-8a5f1457829e	g.chr4:113468559T>C	ENST00000505019.1	-	24	5605	c.5480A>G	c.(5479-5481)gAg>gGg	p.E1827G	RP11-402J6.1_ENST00000504009.1_RNA	NM_018392.4	NP_060862.3	Q86YA3	ZGRF1_HUMAN		1827						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)	p.E1827G(1)		breast(1)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(6)|lung(21)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000676)		CTTTTCACACTCAAACCTAAA	0.348																																						ENST00000505019.1																			1	Substitution - Missense(1)	p.E1827G(1)	prostate(1)	breast(1)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(6)|lung(21)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						c.(5479-5481)gAg>gGg		chromosome 4 open reading frame 21							65	60	62					4																	113468559		2203	4300	6503	SO:0001583	missense	55345							g.chr4:113468559T>C																												ENST00000505019.1:c.5480A>G	4.37:g.113468559T>C	ENSP00000424737:p.Glu1827Gly						p.E1827G	NM_018392.4	NP_060862.3	Q86YA3	CD021_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000676)	24	5605	-		Ovarian(17;0.156)	0					B3KQX2|B4DSN6|B4DYU8|E9PDE1|G5EA02|Q6ZU11|Q9NSW3|Q9NUJ4	Missense_Mutation	SNP	ENST00000505019.1	37	c.5480A>G		.	.	.	.	.	.	.	.	.	.	T	18.12	3.552596	0.65425	.	.	ENSG00000138658	ENST00000505019	T	0.79749	-1.3	5.93	5.93	0.95920	.	0.306220	0.31897	N	0.006888	T	0.54287	0.1849	N	0.00608	-1.33	0.80722	D	1	B;B	0.24768	0.111;0.001	B;B	0.22753	0.041;0.002	T	0.58526	-0.7621	10	0.21014	T	0.42	-19.5403	16.3766	0.83401	0.0:0.0:0.0:1.0	.	1827;285	G5EA02;B3KQX2	.;.	G	1827	ENSP00000424737:E1827G	ENSP00000424737:E1827G	E	-	2	0	C4orf21	113688008	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.475000	0.35409	2.263000	0.75096	0.533000	0.62120	GAG		0.348	C4orf21-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000256413.1			4	54	0	0	0	0.150653	0	4	54					C	113468559	T	C	113468559	3	2	13	1	0	0	0	0	1	0	0	0	2254	1551	54	4	854	4	C4orf21	4	113468559	Missense_Mutation	SNP	T	TCGA-CH-5738-01A-11D-1576-08	59737897	113468559	77685717	11	515											
MAP1B	4131	broad.mit.edu	37	chr5	71493006	71493006	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaagacccccctgggtgaacGtagtgtgaacttctctctga	10	10	10	11	1	2	4	0	3	2	1	3	4	2	4	3	1	2	1	3	1	4	2	rs372421201		TCGA-CH-5738-01A-11D-1576-08	TCGA-CH-5738-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2df47d25-97d9-4d8b-bd00-01bdfe040ceb	21323ad5-08ed-4261-a1cd-8a5f1457829e	g.chr5:71493006G>A	ENST00000296755.7	+	5	4122	c.3824G>A	c.(3823-3825)cGt>cAt	p.R1275H		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	1275					axon extension (GO:0048675)|cellular process (GO:0009987)|dendrite development (GO:0016358)|establishment of monopolar cell polarity (GO:0061162)|microtubule bundle formation (GO:0001578)|mitochondrion transport along microtubule (GO:0047497)|negative regulation of intracellular transport (GO:0032387)|positive regulation of axon extension (GO:0045773)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|plasma membrane (GO:0005886)|synapse (GO:0045202)	structural molecule activity (GO:0005198)	p.R1275H(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		CTGGGTGAACGTAGTGTGAAC	0.517													G|||	1	0.000199681	8e-04	0	5008	,	,		20810	0		0	False		,,,				2504	0				Melanoma(17;367 822 11631 31730 47712)	ENST00000296755.7																			1	Substitution - Missense(1)	p.R1275H(1)	prostate(1)	NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104						c.(3823-3825)cGt>cAt		microtubule-associated protein 1B		G	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	64	64	64		3824	5.8	1	5		64	0,8600		0,0,4300	no	missense	MAP1B	NM_005909.3	29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	1275/2469	71493006	1,13005	2203	4300	6503	SO:0001583	missense	4131					microtubule|microtubule associated complex	structural molecule activity	g.chr5:71493006G>A	L06237	CCDS4012.1	5q13	2014-06-12			ENSG00000131711	ENSG00000131711			6836	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 102"	157129				1881920	Standard	NM_005909		Approved	MAP5, PPP1R102	uc003kbw.4	P46821	OTTHUMG00000100952	ENST00000296755.7:c.3824G>A	5.37:g.71493006G>A	ENSP00000296755:p.Arg1275His						p.R1275H	NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)	5	4122	+		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)	1275					A2BDK5	Missense_Mutation	SNP	ENST00000296755.7	37	c.3824G>A	CCDS4012.1	.	.	.	.	.	.	.	.	.	.	G	15.93	2.976924	0.53720	2.27E-4	0.0	ENSG00000131711	ENST00000296755	T	0.03524	3.9	5.79	5.79	0.91817	.	0.000000	0.64402	D	0.000004	T	0.07458	0.0188	N	0.08118	0	0.47153	D	0.999338	D;D	0.76494	0.999;0.998	P;P	0.61275	0.886;0.862	T	0.52208	-0.8606	10	0.56958	D	0.05	-10.8595	20.032	0.97543	0.0:0.0:1.0:0.0	.	1149;1275	A2BDK6;P46821	.;MAP1B_HUMAN	H	1275	ENSP00000296755:R1275H	ENSP00000296755:R1275H	R	+	2	0	MAP1B	71528762	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	3.924000	0.56476	2.743000	0.94032	0.655000	0.94253	CGT		0.517	MAP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218561.6	NM_005909		15	131	0	0	0	0.500413	0	15	131					A	71493006	G	A	71493006	3	1	13	1	0	0	0	0	1	0	0	0	9228	1145	40	1	3842	1	MAP1B	5	71493006	Missense_Mutation	SNP	G	TCGA-CH-5738-01A-11D-1576-08		71493006	109422254	12	516											
PPP2R2B	5521	broad.mit.edu	37	chr5	145969623	145969623	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tttgctaaagtccagactgtCgacactgatctcgtcttttc	8	15	7	11	2	2	2	0	1	2	1	6	3	3	2	1	0	1	1	1	0	2	4			TCGA-CH-5738-01A-11D-1576-08	TCGA-CH-5738-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2df47d25-97d9-4d8b-bd00-01bdfe040ceb	21323ad5-08ed-4261-a1cd-8a5f1457829e	g.chr5:145969623C>T	ENST00000394413.3	-	9	1789	c.1219G>A	c.(1219-1221)Gac>Aac	p.D407N	PPP2R2B_ENST00000453001.1_Missense_Mutation_p.D407N|PPP2R2B_ENST00000530902.1_5'UTR|PPP2R2B_ENST00000356826.3_Missense_Mutation_p.D407N|PPP2R2B_ENST00000394414.1_Missense_Mutation_p.D473N|PPP2R2B_ENST00000394409.3_Missense_Mutation_p.D465N|PPP2R2B_ENST00000504198.1_Missense_Mutation_p.D413N|CTB-99A3.1_ENST00000512730.1_RNA|PPP2R2B_ENST00000394410.2_Missense_Mutation_p.D396N|PPP2R2B_ENST00000394411.4_Missense_Mutation_p.D407N|PPP2R2B_ENST00000336640.6_Missense_Mutation_p.D410N|PPP2R2B_ENST00000508545.2_Missense_Mutation_p.D396N			Q00005	2ABB_HUMAN	protein phosphatase 2, regulatory subunit B, beta	407					apoptotic process (GO:0006915)|regulation of catalytic activity (GO:0050790)|signal transduction (GO:0007165)	cytoskeleton (GO:0005856)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|protein phosphatase type 2A complex (GO:0000159)	protein phosphatase type 2A regulator activity (GO:0008601)	p.D410N(1)|p.D465N(1)		endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(9)|ovary(1)|prostate(4)|skin(3)	32			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TCCAGACTGTCGACACTGATC	0.478																																						ENST00000394413.3																			2	Substitution - Missense(2)	p.D410N(1)|p.D465N(1)	prostate(2)	endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(9)|ovary(1)|prostate(4)|skin(3)	32						c.(1219-1221)Gac>Aac		protein phosphatase 2, regulatory subunit B, beta							169	177	174					5																	145969623		2203	4300	6503	SO:0001583	missense	5521				apoptosis|signal transduction	cytoskeleton|mitochondrial outer membrane|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity	g.chr5:145969623C>T	M64930	CCDS4283.1, CCDS4284.1, CCDS43380.1, CCDS4284.2, CCDS64282.1	5q32	2013-01-10	2010-04-14		ENSG00000156475	ENSG00000156475	3.1.3.16	"Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits", "WD repeat domain containing"	9305	protein-coding gene	gene with protein product	"PP2A subunit B isoform beta"	604325	"spinocerebellar ataxia 12", "protein phosphatase 2 (formerly 2A), regulatory subunit B (PR 52), beta isoform", "protein phosphatase 2 (formerly 2A), regulatory subunit B, beta isoform"	SCA12		1849734, 10581021	Standard	NM_181674		Approved	PR55-BETA, PR52B	uc003log.5	Q00005	OTTHUMG00000163381	ENST00000394413.3:c.1219G>A	5.37:g.145969623C>T	ENSP00000377935:p.Asp407Asn					PPP2R2B_ENST00000508545.2_Missense_Mutation_p.D396N|PPP2R2B_ENST00000530902.1_5'UTR|PPP2R2B_ENST00000394414.1_Missense_Mutation_p.D473N|PPP2R2B_ENST00000356826.3_Missense_Mutation_p.D407N|PPP2R2B_ENST00000394409.3_Missense_Mutation_p.D465N|CTB-99A3.1_ENST00000512730.1_RNA|PPP2R2B_ENST00000394411.4_Missense_Mutation_p.D407N|PPP2R2B_ENST00000336640.6_Missense_Mutation_p.D410N|PPP2R2B_ENST00000453001.1_Missense_Mutation_p.D407N|PPP2R2B_ENST00000394410.2_Missense_Mutation_p.D396N|PPP2R2B_ENST00000504198.1_Missense_Mutation_p.D413N	p.D407N			Q00005	2ABB_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		9	1789	-			407					A6NEJ2|A8K102|B3KPD0|B7Z2F2|B7Z304|D3DQF7|D3DQF8|G3V149	Missense_Mutation	SNP	ENST00000394413.3	37	c.1219G>A	CCDS4284.1	.	.	.	.	.	.	.	.	.	.	C	20.5	4.004272	0.74932	.	.	ENSG00000156475	ENST00000394413;ENST00000508545;ENST00000394414;ENST00000394411;ENST00000356826;ENST00000453001;ENST00000394410;ENST00000336640;ENST00000504198;ENST00000394409	T;T;T;T;T;T;T;T;T;T	0.28454	1.61;1.61;1.61;1.61;1.61;1.61;1.61;1.61;1.61;1.61	6.17	6.17	0.99709	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.089939	0.85682	D	0.000000	T	0.52789	0.1756	M	0.73372	2.23	0.80722	D	1	D;D;D;D;P;D	0.58620	0.98;0.98;0.98;0.983;0.636;0.98	P;P;P;P;B;P	0.57502	0.741;0.822;0.822;0.728;0.171;0.822	T	0.32824	-0.9892	10	0.35671	T	0.21	-9.5699	20.8794	0.99867	0.0:1.0:0.0:0.0	.	465;413;396;473;410;407	Q00005-4;Q00005-3;G3V149;Q00005-5;Q00005-2;Q00005	.;.;.;.;.;2ABB_HUMAN	N	407;396;473;407;407;407;396;410;413;465	ENSP00000377935:D407N;ENSP00000431320:D396N;ENSP00000377936:D473N;ENSP00000377933:D407N;ENSP00000349283:D407N;ENSP00000398779:D407N;ENSP00000377932:D396N;ENSP00000336591:D410N;ENSP00000421396:D413N;ENSP00000377931:D465N	ENSP00000336591:D410N	D	-	1	0	AC011357.1	145949816	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	7.487000	0.81328	2.941000	0.99782	0.655000	0.94253	GAC		0.478	PPP2R2B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251893.2	NM_181678		18	509	0	0	0	0.575678	0	18	509					T	145969623	C	T	145969623	3	4	13	1	0	0	0	0	1	0	0	0	12385	884	31	2	116	2	PPP2R2B	5	145969623	Missense_Mutation	SNP	C	TCGA-CH-5738-01A-11D-1576-08	74476617	145969623	34945637	13	517											
ZNF454	285676	broad.mit.edu	37	chr5	178392359	178392359	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	agggcacaccttaccaaacaCcagaatatccacagtggaga	16	5	8	12	0	0	2	0	0	0	2	1	3	1	2	4	2	2	1	4	2	4	2			TCGA-CH-5738-01A-11D-1576-08	TCGA-CH-5738-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2df47d25-97d9-4d8b-bd00-01bdfe040ceb	21323ad5-08ed-4261-a1cd-8a5f1457829e	g.chr5:178392359C>G	ENST00000320129.3	+	5	1257	c.954C>G	c.(952-954)caC>caG	p.H318Q	ZNF454_ENST00000519564.1_Missense_Mutation_p.H318Q	NM_001178090.1|NM_182594.2	NP_001171561.1|NP_872400.2	Q8N9F8	ZN454_HUMAN	zinc finger protein 454	318					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.H318Q(1)		breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(11)|lung(18)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)	46	all_cancers(89;0.000904)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.225)|all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.234)		TTACCAAACACCAGAATATCC	0.393																																						ENST00000320129.3																			1	Substitution - Missense(1)	p.H318Q(1)	prostate(1)	breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(11)|lung(18)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)	46						c.(952-954)caC>caG		zinc finger protein 454							54	57	56					5																	178392359		2203	4300	6503	SO:0001583	missense	285676				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr5:178392359C>G	AK094763	CCDS4441.1	5q35.3	2013-01-08			ENSG00000178187	ENSG00000178187		"Zinc fingers, C2H2-type", "-"	21200	protein-coding gene	gene with protein product							Standard	NM_182594		Approved	FLJ37444	uc021yjc.1	Q8N9F8	OTTHUMG00000130891	ENST00000320129.3:c.954C>G	5.37:g.178392359C>G	ENSP00000326249:p.His318Gln					ZNF454_ENST00000519564.1_Missense_Mutation_p.H318Q	p.H318Q	NM_001178090.1|NM_182594.2	NP_001171561.1|NP_872400.2	Q8N9F8	ZN454_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.234)	5	1257	+	all_cancers(89;0.000904)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.225)|all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	318					Q2M1P2|Q2M323	Missense_Mutation	SNP	ENST00000320129.3	37	c.954C>G	CCDS4441.1	.	.	.	.	.	.	.	.	.	.	C	8.237	0.805978	0.16467	.	.	ENSG00000178187	ENST00000320129;ENST00000519564	D;D	0.86865	-2.18;-2.18	4.11	1.35	0.21983	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.42172	D	0.000748	D	0.93861	0.8036	H	0.94306	3.52	0.31131	N	0.707735	D	0.89917	1.0	D	0.91635	0.999	D	0.90550	0.4508	10	0.87932	D	0	-6.8485	7.7422	0.28848	0.0:0.7154:0.0:0.2845	.	318	Q8N9F8	ZN454_HUMAN	Q	318	ENSP00000326249:H318Q;ENSP00000430354:H318Q	ENSP00000326249:H318Q	H	+	3	2	ZNF454	178324965	0.403000	0.25319	1.000000	0.80357	0.049000	0.14656	0.561000	0.23515	0.160000	0.19432	-0.482000	0.04802	CAC		0.393	ZNF454-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253476.2	XM_209718		4	142	0	0	0	0.150653	0	4	142					G	178392359	C	G	178392359	3	3	13	1	0	0	0	0	1	0	0	0	17920	506	18	5	968	5	ZNF454	5	178392359	Missense_Mutation	SNP	C	TCGA-CH-5738-01A-11D-1576-08	32422736	178392359	2522901	14	518											
HIST1H2BN	8341	broad.mit.edu	37	chr6	27806476	27806476	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtccgctcctgccccgaagAaaggctccaagaaggcagtg	11	5	12	13	2	0	2	0	0	0	2	3	3	3	2	5	2	1	3	5	2	4	0			TCGA-CH-5738-01A-11D-1576-08	TCGA-CH-5738-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2df47d25-97d9-4d8b-bd00-01bdfe040ceb	21323ad5-08ed-4261-a1cd-8a5f1457829e	g.chr6:27806476A>C	ENST00000396980.3	+	1	37	c.37A>C	c.(37-39)Aaa>Caa	p.K13Q	HIST1H2BN_ENST00000606613.1_Missense_Mutation_p.K13Q|HIST1H2AK_ENST00000330180.2_5'Flank	NM_003520.3	NP_003511.1	Q99877	H2B1N_HUMAN	histone cluster 1, H2bn	13					chromatin organization (GO:0006325)|nucleosome assembly (GO:0006334)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.K13Q(1)		central_nervous_system(1)|endometrium(3)|lung(3)|prostate(1)	8						TGCCCCGAAGAAAGGCTCCAA	0.552																																						ENST00000606613.1																			1	Substitution - Missense(1)	p.K13Q(1)	prostate(1)	central_nervous_system(1)|endometrium(3)|lung(3)|prostate(1)	8						c.(37-39)Aaa>Caa		histone cluster 1, H2bn							97	100	99					6																	27806476		2203	4300	6503	SO:0001583	missense	8341				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr6:27806476A>C	Z83336	CCDS4633.1	6p22.1	2011-01-27	2006-10-11	2003-02-28	ENSG00000233822	ENSG00000233822		"Histones / Replication-dependent"	4749	protein-coding gene	gene with protein product		602801	"H2B histone family, member D", "histone 1, H2bn"	H2BFD		9439656, 12408966	Standard	NM_003520		Approved	H2B/d	uc003njv.3	Q99877	OTTHUMG00000016397	ENST00000396980.3:c.37A>C	6.37:g.27806476A>C	ENSP00000380177:p.Lys13Gln					HIST1H2BN_ENST00000396980.3_Missense_Mutation_p.K13Q	p.K13Q			Q99877	H2B1N_HUMAN			1	98	+			13					B2R5L4|Q494S8|Q96FB7	Missense_Mutation	SNP	ENST00000396980.3	37	c.37A>C	CCDS4633.1	.	.	.	.	.	.	.	.	.	.	.	9.854	1.194442	0.22037	.	.	ENSG00000233822	ENST00000449538;ENST00000396980	T;T	0.25414	1.8;1.8	4.75	3.55	0.40652	Histone-fold (2);	0.000000	0.31784	U	0.007066	T	0.21631	0.0521	M	0.92367	3.3	0.25474	N	0.987799	B;B	0.20887	0.0;0.049	B;B	0.11329	0.0;0.006	T	0.32666	-0.9898	10	0.72032	D	0.01	.	11.2321	0.48918	0.8459:0.154:0.0:0.0	.	13;13	Q99877;B2R4S9	H2B1N_HUMAN;.	Q	13	ENSP00000446031:K13Q;ENSP00000380177:K13Q	ENSP00000380177:K13Q	K	+	1	0	HIST1H2BN	27914455	1.000000	0.71417	0.998000	0.56505	0.538000	0.34931	4.615000	0.61190	0.861000	0.35504	0.533000	0.62120	AAA		0.552	HIST1H2BN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043840.2	NM_003520		5	201	0	0	0	0.184627	0	5	201					C	27806476	A	C	27806476	3	2	13	1	0	0	0	0	1	0	0	0	7153	247	9	5	39	5	HIST1H2BN	6	27806476	Missense_Mutation	SNP	A	TCGA-CH-5738-01A-11D-1576-08		27806476	143308591	15	519											
ABCC10	89845	broad.mit.edu	37	chr6	43403589	43403589	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggccaaagtgtccttggaccGgatccagcttttcctcgacc	7	10	10	14	2	0	0	0	0	0	0	4	3	3	2	6	3	1	1	6	3	1	3			TCGA-CH-5738-01A-11D-1576-08	TCGA-CH-5738-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2df47d25-97d9-4d8b-bd00-01bdfe040ceb	21323ad5-08ed-4261-a1cd-8a5f1457829e	g.chr6:43403589G>A	ENST00000372530.4	+	5	1924	c.1709G>A	c.(1708-1710)cGg>cAg	p.R570Q	ABCC10_ENST00000244533.3_Missense_Mutation_p.R527Q	NM_001198934.1	NP_001185863.1	Q5T3U5	MRP7_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 10	570					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)	p.R527Q(2)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(8)|lung(21)|ovary(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)		Cyclosporine(DB00091)|Cytarabine(DB00987)|Daunorubicin(DB00694)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Estradiol(DB00783)|Etoposide(DB00773)|Gemcitabine(DB00441)|Methotrexate(DB00563)|Paclitaxel(DB01229)|Sildenafil(DB00203)|Tenofovir(DB00300)|Verapamil(DB00661)|Vincristine(DB00541)	TCCTTGGACCGGATCCAGCTT	0.567																																						ENST00000244533.3																			2	Substitution - Missense(2)	p.R527Q(2)	prostate(1)|lung(1)	NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(8)|lung(21)|ovary(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						c.(1579-1581)cGg>cAg		ATP-binding cassette, sub-family C (CFTR/MRP), member 10							113	102	106					6																	43403589		2203	4300	6503	SO:0001583	missense	89845					integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr6:43403589G>A	U66684	CCDS4896.1, CCDS56430.1	6p12.3	2012-03-14			ENSG00000124574	ENSG00000124574		"ATP binding cassette transporters / subfamily C"	52	protein-coding gene	gene with protein product		612509				8894702	Standard	NM_033450		Approved	EST182763, MRP7, SIMRP7	uc003ouy.1	Q5T3U5	OTTHUMG00000014733	ENST00000372530.4:c.1709G>A	6.37:g.43403589G>A	ENSP00000361608:p.Arg570Gln					ABCC10_ENST00000372530.4_Missense_Mutation_p.R570Q	p.R527Q	NM_033450.2	NP_258261.2	Q5T3U5	MRP7_HUMAN	Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)		3	1939	+	all_lung(25;0.00536)		570			ABC transmembrane type-1 1.		Q8NHX7|Q9H7N2|Q9NXY3|Q9UF48	Missense_Mutation	SNP	ENST00000372530.4	37	c.1580G>A	CCDS56430.1	.	.	.	.	.	.	.	.	.	.	G	32	5.126887	0.94429	.	.	ENSG00000124574	ENST00000372515;ENST00000372530;ENST00000244533	D;D;D	0.97161	-4.27;-3.92;-3.92	5.3	5.3	0.74995	ABC transporter, transmembrane domain, type 1 (1);	0.072532	0.56097	D	0.000025	D	0.99111	0.9694	H	0.97051	3.93	0.58432	D	0.999993	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.998	D	0.99331	1.0909	10	0.87932	D	0	-36.0171	18.9723	0.92719	0.0:0.0:1.0:0.0	.	527;570	Q5T3U5-2;Q5T3U5	.;MRP7_HUMAN	Q	126;570;527	ENSP00000361593:R126Q;ENSP00000361608:R570Q;ENSP00000244533:R527Q	ENSP00000244533:R527Q	R	+	2	0	ABCC10	43511567	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	9.835000	0.99442	2.492000	0.84095	0.462000	0.41574	CGG		0.567	ABCC10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040603.2	NM_033450		5	177	0	0	0	0.217242	0	5	177					A	43403589	G	A	43403589	3	1	13	1	0	0	0	0	1	0	0	0	50	1116	39	2	1590	2	ABCC10	6	43403589	Missense_Mutation	SNP	G	TCGA-CH-5738-01A-11D-1576-08	15597113	43403589	127711478	16	520											
BAI3	577	broad.mit.edu	37	chr6	69348738	69348738	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aactttacaaactgcacttgGacgctggaaaatccagatcc	14	9	7	11	1	0	1	0	0	0	1	2	3	2	3	2	2	4	2	2	2	5	3			TCGA-CH-5738-01A-11D-1576-08	TCGA-CH-5738-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2df47d25-97d9-4d8b-bd00-01bdfe040ceb	21323ad5-08ed-4261-a1cd-8a5f1457829e	g.chr6:69348738G>T	ENST00000370598.1	+	3	992	c.171G>T	c.(169-171)tgG>tgT	p.W57C		NM_001704.2	NP_001695	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	57	CUB. {ECO:0000255|PROSITE- ProRule:PRU00059}.				G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.W57C(2)		NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				ACTGCACTTGGACGCTGGAAA	0.393																																						ENST00000370598.1																			2	Substitution - Missense(2)	p.W57C(2)	prostate(2)	NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210						c.(169-171)tgG>tgT		brain-specific angiogenesis inhibitor 3							73	76	75					6																	69348738		2203	4300	6503	SO:0001583	missense	577				negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr6:69348738G>T	AB005299	CCDS4968.1	6q12	2014-08-08			ENSG00000135298	ENSG00000135298		"-", "GPCR / Class B : Orphans"	945	protein-coding gene	gene with protein product		602684				9533023	Standard	NM_001704		Approved	KIAA0550	uc003pev.4	O60242	OTTHUMG00000014982	ENST00000370598.1:c.171G>T	6.37:g.69348738G>T	ENSP00000359630:p.Trp57Cys						p.W57C	NM_001704.2	NP_001695.1	O60242	BAI3_HUMAN			3	992	+		all_lung(197;0.212)	57			CUB.		B7Z1K0|O60297|Q2NKN6|Q5VY37|Q9BX54	Missense_Mutation	SNP	ENST00000370598.1	37	c.171G>T	CCDS4968.1	.	.	.	.	.	.	.	.	.	.	G	16.25	3.068964	0.55539	.	.	ENSG00000135298	ENST00000370598	T	0.70869	-0.52	5.49	5.49	0.81192	CUB (1);	0.000000	0.64402	D	0.000001	T	0.80076	0.4557	L	0.57536	1.79	0.80722	D	1	D	0.69078	0.997	D	0.72338	0.977	T	0.80924	-0.1165	10	0.87932	D	0	.	19.7289	0.96175	0.0:0.0:1.0:0.0	.	57	O60242	BAI3_HUMAN	C	57	ENSP00000359630:W57C	ENSP00000359630:W57C	W	+	3	0	BAI3	69405459	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.416000	0.97383	2.737000	0.93849	0.650000	0.86243	TGG		0.393	BAI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041120.1			5	226	1	0	0.000602214	0.184627	0.000688245	5	226					T	69348738	G	T	69348738	3	4	13	1	0	0	0	0	1	0	0	0	1300	1183	41	5	173	5	BAI3	6	69348738	Missense_Mutation	SNP	G	TCGA-CH-5738-01A-11D-1576-08	25945149	69348738	101766329	17	521											
EFCAB1	79645	broad.mit.edu	37	chr8	49641698	49641698	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagacagcttcccatcatggTcatgatcctaggggaatgag	12	9	11	9	0	2	3	2	2	0	1	4	4	4	4	2	3	1	1	2	3	3	2			TCGA-CH-5738-01A-11D-1576-08	TCGA-CH-5738-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2df47d25-97d9-4d8b-bd00-01bdfe040ceb	21323ad5-08ed-4261-a1cd-8a5f1457829e	g.chr8:49641698T>C	ENST00000262103.3	-	5	559	c.479A>G	c.(478-480)gAc>gGc	p.D160G	EFCAB1_ENST00000521002.1_Intron|EFCAB1_ENST00000433756.1_Missense_Mutation_p.D108G|EFCAB1_ENST00000523092.1_Missense_Mutation_p.D108G	NM_024593.3	NP_078869.1	Q9HAE3	EFCB1_HUMAN	EF-hand calcium binding domain 1	160	EF-hand 3. {ECO:0000255|PROSITE- ProRule:PRU00448}.						calcium ion binding (GO:0005509)	p.D160G(1)		endometrium(1)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|urinary_tract(2)	14		all_epithelial(80;0.0134)|Lung NSC(129;0.0207)|all_lung(136;0.0464)				CCCATCATGGTCATGATCCTA	0.408																																						ENST00000433756.1																			1	Substitution - Missense(1)	p.D160G(1)	prostate(1)	endometrium(1)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|urinary_tract(2)	14						c.(322-324)gAc>gGc		EF-hand calcium binding domain 1							111	94	100					8																	49641698		2203	4300	6503	SO:0001583	missense	79645						calcium ion binding	g.chr8:49641698T>C		CCDS6145.1, CCDS47853.1	8q11.21	2013-01-10			ENSG00000034239	ENSG00000034239		"EF-hand domain containing"	25678	protein-coding gene	gene with protein product						12477932	Standard	NM_024593		Approved	FLJ11767	uc003xqo.2	Q9HAE3	OTTHUMG00000164203	ENST00000262103.3:c.479A>G	8.37:g.49641698T>C	ENSP00000262103:p.Asp160Gly					EFCAB1_ENST00000521002.1_Intron|EFCAB1_ENST00000262103.3_Missense_Mutation_p.D160G|EFCAB1_ENST00000523092.1_Missense_Mutation_p.D108G	p.D108G	NM_001142857.1	NP_001136329.1	Q9HAE3	EFCB1_HUMAN			4	482	-		all_epithelial(80;0.0134)|Lung NSC(129;0.0207)|all_lung(136;0.0464)	160			EF-hand 2.		B4DSB4|E7EVN7	Missense_Mutation	SNP	ENST00000262103.3	37	c.323A>G	CCDS6145.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	22.4|22.4	4.288960|4.288960	0.80914|0.80914	.|.	.|.	ENSG00000034239|ENSG00000034239	ENST00000433756;ENST00000262103;ENST00000450553;ENST00000523092|ENST00000523008;ENST00000522254	T;T;T|.	0.75821|.	-0.97;-0.97;-0.97|.	5.09|5.09	5.09|5.09	0.68999|0.68999	EF-hand-like domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|.	0.87107|.	0.6095|.	H|H	0.96633|0.96633	3.855|3.855	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.87578|.	0.998;0.996|.	D|.	0.90859|.	0.4737|.	9|.	.|.	.|.	.|.	.|.	12.8684|12.8684	0.57951|0.57951	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	108;160|.	Q9HAE3-2;Q9HAE3|.	.;EFCB1_HUMAN|.	G|W	108;160;160;108|26;77	ENSP00000400873:D108G;ENSP00000262103:D160G;ENSP00000430765:D108G|.	.|.	D|X	-|-	2|3	0|0	EFCAB1|EFCAB1	49804251|49804251	1.000000|1.000000	0.71417|0.71417	0.992000|0.992000	0.48379|0.48379	0.893000|0.893000	0.52053|0.52053	7.560000|7.560000	0.82277|0.82277	2.134000|2.134000	0.65973|0.65973	0.374000|0.374000	0.22700|0.22700	GAC|TGA		0.408	EFCAB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377778.1	NM_024593		3	151	0	0	0	0.150653	0	3	151					C	49641698	T	C	49641698	3	2	13	1	0	0	0	0	1	0	0	0	4933	1667	58	4	164	4	EFCAB1	8	49641698	Missense_Mutation	SNP	T	TCGA-CH-5738-01A-11D-1576-08		49641698	96722324	18	522											
CREM	1390	broad.mit.edu	37	chr10	35500241	35500241	+	Intron	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtcaaatgtcttgaaaatcGtgtggctgtgcttgaaaacc	11	13	10	7	1	2	2	1	2	1	0	3	2	2	2	1	1	2	2	1	1	5	2			TCGA-CH-5738-01A-11D-1576-08	TCGA-CH-5738-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2df47d25-97d9-4d8b-bd00-01bdfe040ceb	21323ad5-08ed-4261-a1cd-8a5f1457829e	g.chr10:35500241G>A	ENST00000395895.2	+	10	1100				CREM_ENST00000374728.3_Intron|CREM_ENST00000488741.1_Missense_Mutation_p.R75H|CREM_ENST00000488328.1_Intron|CREM_ENST00000463314.1_Intron|CREM_ENST00000487763.1_Intron|CREM_ENST00000429130.3_Intron|CREM_ENST00000479070.1_Intron|CREM_ENST00000439705.1_Missense_Mutation_p.R258H|CREM_ENST00000395887.3_Intron|CREM_ENST00000474931.1_Missense_Mutation_p.R85H|CREM_ENST00000374721.3_Missense_Mutation_p.R242H|CREM_ENST00000474362.1_Intron|CREM_ENST00000473940.1_Missense_Mutation_p.R93H|CREM_ENST00000344351.5_Missense_Mutation_p.R68H|CREM_ENST00000468236.1_Intron|CREM_ENST00000460270.1_Missense_Mutation_p.R68H|CREM_ENST00000333809.8_Missense_Mutation_p.R321H|CREM_ENST00000337656.4_Missense_Mutation_p.R272H|CREM_ENST00000354759.3_Missense_Mutation_p.R221H|CREM_ENST00000490511.1_Intron|CREM_ENST00000348787.2_Intron|CREM_ENST00000361599.4_Intron|CREM_ENST00000484283.1_Intron|CREM_ENST00000374734.3_Missense_Mutation_p.R209H|CREM_ENST00000345491.3_Intron|RP11-324I22.3_ENST00000602435.1_RNA|CREM_ENST00000356917.5_Missense_Mutation_p.R81H|CREM_ENST00000463960.1_Intron|CREM_ENST00000342105.3_Intron			Q03060	CREM_HUMAN	cAMP responsive element modulator						cell differentiation (GO:0030154)|glycosphingolipid metabolic process (GO:0006687)|multicellular organismal development (GO:0007275)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|rhythmic process (GO:0048511)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	cAMP response element binding protein binding (GO:0008140)|DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R272H(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)	14						CTTGAAAATCGTGTGGCTGTG	0.443																																						ENST00000333809.8																			1	Substitution - Missense(1)	p.R272H(1)	prostate(1)	NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)	14						c.(961-963)cGt>cAt		cAMP responsive element modulator							116	108	111					10																	35500241		2203	4300	6503	SO:0001627	intron_variant	1390				cell differentiation|multicellular organismal development|signal transduction|spermatogenesis	nucleus	cAMP response element binding protein binding|protein binding|protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr10:35500241G>A		CCDS7180.1, CCDS7181.1, CCDS7182.1, CCDS7183.1, CCDS7184.1, CCDS7185.1, CCDS7186.1, CCDS7187.1, CCDS7188.1, CCDS31181.1, CCDS53519.1, CCDS53520.1, CCDS53517.1, CCDS53518.1, CCDS53521.1, CCDS58074.1, CCDS58075.1, CCDS58076.1	10p12.1-p11.1	2013-01-10			ENSG00000095794	ENSG00000095794		"basic leucine zipper proteins"	2352	protein-coding gene	gene with protein product		123812				1461747, 7916662	Standard	NM_182717		Approved	hCREM-2	uc001iyb.3	Q03060	OTTHUMG00000017953	ENST00000395895.2:c.939-343G>A	10.37:g.35500241G>A						CREM_ENST00000488741.1_Missense_Mutation_p.R75H|CREM_ENST00000488328.1_Intron|CREM_ENST00000374734.3_Missense_Mutation_p.R209H|CREM_ENST00000474931.1_Missense_Mutation_p.R85H|CREM_ENST00000473940.1_Missense_Mutation_p.R93H|CREM_ENST00000354759.3_Missense_Mutation_p.R221H|CREM_ENST00000395887.3_Intron|CREM_ENST00000490511.1_Intron|CREM_ENST00000395895.2_Intron|CREM_ENST00000487763.1_Intron|CREM_ENST00000474362.1_Intron|CREM_ENST00000356917.5_Missense_Mutation_p.R81H|CREM_ENST00000429130.3_Intron|CREM_ENST00000479070.1_Intron|CREM_ENST00000460270.1_Missense_Mutation_p.R68H|CREM_ENST00000463960.1_Intron|CREM_ENST00000345491.3_Intron|CREM_ENST00000463314.1_Intron|CREM_ENST00000484283.1_Intron|CREM_ENST00000439705.1_Missense_Mutation_p.R258H|CREM_ENST00000374728.3_Intron|CREM_ENST00000342105.3_Intron|CREM_ENST00000348787.2_Intron|CREM_ENST00000344351.5_Missense_Mutation_p.R68H|CREM_ENST00000468236.1_Intron|CREM_ENST00000361599.4_Intron|CREM_ENST00000374721.3_Missense_Mutation_p.R242H|CREM_ENST00000337656.4_Missense_Mutation_p.R272H	p.R321H	NM_183011.1	NP_898829.1	Q03060	CREM_HUMAN			8	1016	+			333					A8K014|A8K3J7|A8K6A1|A8MPQ2|B4DXC1|C9J785|C9JZ10|E9PAR4|E9PHM1|O75519|Q14501|Q14503|Q14504|Q14505|Q14506|Q15731|Q16114|Q16116|Q5T9H7|Q5W1A6|Q5W1A7|Q5W1A8|Q5W1A9|Q5W1B0|Q5W1B2|Q7Z2Q6|Q8IVD4|Q96AG7|Q9NZ98|Q9NZ99|Q9NZB9	Missense_Mutation	SNP	ENST00000395895.2	37	c.962G>A		.	.	.	.	.	.	.	.	.	.	G	21.5	4.161795	0.78226	.	.	ENSG00000095794	ENST00000460270;ENST00000354759;ENST00000333809;ENST00000439705;ENST00000374734;ENST00000337656;ENST00000462058;ENST00000374721;ENST00000473940;ENST00000356917;ENST00000488741;ENST00000474931;ENST00000344351	T;T;T;T;T;T;T;T;T;T;T	0.59772	0.24;0.24;0.24;0.24;0.24;0.24;0.24;0.24;0.24;0.24;0.24	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	D	0.84266	0.5434	H	0.95504	3.68	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	1.0;0.999;0.999;1.0;1.0;1.0;1.0	D	0.88529	0.3101	10	0.87932	D	0	.	19.7263	0.96165	0.0:0.0:1.0:0.0	.	85;75;81;93;209;272;221	A8K014;A8K6A1;A8K3J7;Q5W1B2;A8MPQ2;E9PHM1;Q5W1B0	.;.;.;.;.;.;.	H	68;221;321;258;209;272;242;305;93;81;75;85;68	ENSP00000420437:R68H;ENSP00000346804:R221H;ENSP00000333055:R321H;ENSP00000409220:R258H;ENSP00000363866:R209H;ENSP00000337138:R272H;ENSP00000420681:R93H;ENSP00000349387:R81H;ENSP00000419075:R75H;ENSP00000417562:R85H;ENSP00000344365:R68H	ENSP00000333055:R321H	R	+	2	0	CREM	35540247	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.895000	0.87343	2.664000	0.90586	0.650000	0.86243	CGT		0.443	CREM-203	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001881		33	111	0	0	0	0.740014	0	33	111					A	35500241	G	A	35500241	1	1	13	0	1	0	0	0	0	0	0	0	3868	1145	40	1		1	CREM	10	35500241	Intron	SNP	G	TCGA-CH-5738-01A-11D-1576-08		35500241	100034506	19	523											
PACS1	55690	broad.mit.edu	37	chr11	66000448	66000449	+	Frame_Shift_Ins	INS	-	-	A																															agtatgtggctgagctgctcINScaggaccagcggaagcctgt																										TCGA-CH-5738-01A-11D-1576-08	TCGA-CH-5738-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2df47d25-97d9-4d8b-bd00-01bdfe040ceb	21323ad5-08ed-4261-a1cd-8a5f1457829e	g.chr11:66000448_66000449insA	ENST00000320580.4	+	15	1782_1783	c.1749_1750insA	c.(1750-1752)cagfs	p.Q584fs	PACS1_ENST00000529757.1_Frame_Shift_Ins_p.Q120fs	NM_018026.3	NP_060496.2	Q6VY07	PACS1_HUMAN	phosphofurin acidic cluster sorting protein 1	584					protein targeting to Golgi (GO:0000042)|protein targeting to plasma membrane (GO:0072661)|regulation of defense response to virus by virus (GO:0050690)|viral process (GO:0016032)	COPI-coated vesicle (GO:0030137)|cytosol (GO:0005829)	ion channel binding (GO:0044325)		RBM14/PACS1(2)	breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(8)|ovary(6)|skin(2)|urinary_tract(1)	37						CTGAGCTGCTCCAGGACCAGCG	0.624																																						ENST00000320580.4																		RBM14/PACS1(2)	0				breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(8)|ovary(6)|skin(2)|urinary_tract(1)	37						c.(1747-1752)ctaggafs		phosphofurin acidic cluster sorting protein 1																																				SO:0001589	frameshift_variant	55690				interspecies interaction between organisms|regulation of defense response to virus by virus|viral reproduction	cytosol	protein binding	g.chr11:66000448_66000449insA	AB033001	CCDS8129.1	11q13.1-q13.2	2008-02-05			ENSG00000175115	ENSG00000175115			30032	protein-coding gene	gene with protein product		607492				12855553, 14608369	Standard	NM_018026		Approved	FLJ10209, KIAA1175	uc001oha.2	Q6VY07	OTTHUMG00000166889	Exception_encountered	11.37:g.66000448_66000449insA	ENSP00000316454:p.Gln584fs					PACS1_ENST00000529757.1_Frame_Shift_Ins_p.G120fs	p.G584fs	NM_018026.3	NP_060496.2	Q6VY07	PACS1_HUMAN			15	1782_1783	+			584					Q6PJY6|Q6PKB6|Q7Z590|Q7Z5W4|Q8N8K6|Q96MW0|Q9NW92|Q9ULP5	Frame_Shift_Ins	INS	ENST00000320580.4	37	c.1749_1750insA	CCDS8129.1																																																																																				0.624	PACS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391690.2	NM_018026		35	423						35	423	---	---	---	---	A	66000449	-	A	66000448	7	5	13	1	0	1	1	0	0	0	0	0	11372	842	30	0	1807	0	PACS1	11	66000448	Frame_Shift_Ins	INS	-	TCGA-CH-5738-01A-11D-1576-08		66000448	69006068	20	524											
KRTAP5-9	3846	broad.mit.edu	37	chr11	71259894	71259894	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tggcaagcggggctgtggctCctgtgggggctccaagggag	5	7	20	9	1	0	0	0	0	0	0	2	1	2	1	2	7	1	4	2	7	2	0			TCGA-CH-5738-01A-11D-1576-08	TCGA-CH-5738-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2df47d25-97d9-4d8b-bd00-01bdfe040ceb	21323ad5-08ed-4261-a1cd-8a5f1457829e	g.chr11:71259894C>T	ENST00000528743.2	+	1	429	c.191C>T	c.(190-192)tCc>tTc	p.S64F		NM_005553.3	NP_005544.4	P26371	KRA59_HUMAN	keratin associated protein 5-9	64	8 X 4 AA repeats of C-C-X-P.				epidermis development (GO:0008544)	keratin filament (GO:0045095)		p.S64F(1)		kidney(1)|large_intestine(1)|lung(6)|prostate(3)	11						GGCTGTGGCTCCTGTGGGGGC	0.632																																						ENST00000528743.2																			1	Substitution - Missense(1)	p.S64F(1)	prostate(1)	kidney(1)|large_intestine(1)|lung(6)|prostate(3)	11						c.(190-192)tCc>tTc		keratin associated protein 5-9							101	117	111					11																	71259894		2200	4293	6493	SO:0001583	missense	3846				epidermis development	keratin filament		g.chr11:71259894C>T	AB126078	CCDS53677.1	11q13.4	2008-02-05				ENSG00000254997		"Keratin associated proteins"	23604	protein-coding gene	gene with protein product		148021		KRN1		15144888	Standard	NM_005553		Approved	KRTAP5.9, KRTAP5-1	uc001oqs.1	P26371		ENST00000528743.2:c.191C>T	11.37:g.71259894C>T	ENSP00000431443:p.Ser64Phe						p.S64F	NM_005553.3	NP_005544.4	P26371	KRA59_HUMAN			1	429	+			64			8 X 4 AA repeats of C-C-X-P.		Q14564|Q3MIP8	Missense_Mutation	SNP	ENST00000528743.2	37	c.191C>T	CCDS53677.1	.	.	.	.	.	.	.	.	.	.	N	3.767	-0.048487	0.07407	.	.	ENSG00000254997	ENST00000528743	T	0.04317	3.65	1.21	1.21	0.21127	.	.	.	.	.	T	0.21509	0.0518	M	0.91510	3.215	0.23376	N	0.997801	D	0.65815	0.995	D	0.63381	0.914	T	0.02581	-1.1138	9	0.62326	D	0.03	.	8.3609	0.32359	0.0:1.0:0.0:0.0	.	64	P26371	KRA59_HUMAN	F	64	ENSP00000431443:S64F	ENSP00000431443:S64F	S	+	2	0	KRTAP5-9	70937542	0.832000	0.29368	0.987000	0.45799	0.076000	0.17211	-0.079000	0.11357	0.987000	0.38709	0.442000	0.29010	TCC		0.632	KRTAP5-9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393901.2			6	211	0	0	0	0.248553	0	6	211					T	71259894	C	T	71259894	3	4	13	1	0	0	0	0	1	0	0	0	8568	855	30	3	193	3	KRTAP5-9	11	71259894	Missense_Mutation	SNP	C	TCGA-CH-5738-01A-11D-1576-08	5259446	71259894	63746622	21	525											
R3HDM2	22864	broad.mit.edu	37	chr12	57662763	57662763	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cttgcatctggccccccatgCtgctcctctggctgctgagc	3	11	10	17	0	2	1	0	1	2	0	3	1	3	1	4	2	5	5	4	2	0	1			TCGA-CH-5738-01A-11D-1576-08	TCGA-CH-5738-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2df47d25-97d9-4d8b-bd00-01bdfe040ceb	21323ad5-08ed-4261-a1cd-8a5f1457829e	g.chr12:57662763C>A	ENST00000347140.3	-	17	2165	c.1775G>T	c.(1774-1776)aGc>aTc	p.S592I	R3HDM2_ENST00000413953.2_Missense_Mutation_p.S319I|R3HDM2_ENST00000546843.1_5'Flank|R3HDM2_ENST00000358907.2_Missense_Mutation_p.S592I|RP11-123K3.4_ENST00000548184.1_3'UTR|R3HDM2_ENST00000402412.1_Missense_Mutation_p.S606I|R3HDM2_ENST00000441731.2_Missense_Mutation_p.S287I|R3HDM2_ENST00000403821.2_Missense_Mutation_p.S626I			Q9Y2K5	R3HD2_HUMAN	R3H domain containing 2	592	Gln-rich.					nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.S253I(1)|p.S592I(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	22						GCCCCCCATGCTGCTCCTCTG	0.587																																						ENST00000402412.1																			2	Substitution - Missense(2)	p.S253I(1)|p.S592I(1)	prostate(2)	breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	22						c.(1816-1818)aGc>aTc		R3H domain containing 2							111	106	107					12																	57662763		2203	4300	6503	SO:0001583	missense	22864					nucleus	nucleic acid binding	g.chr12:57662763C>A	AB023219	CCDS8937.2	12q13.3	2012-11-19			ENSG00000179912	ENSG00000179912			29167	protein-coding gene	gene with protein product							Standard	NM_014925		Approved	KIAA1002	uc009zpm.1	Q9Y2K5	OTTHUMG00000171568	ENST00000347140.3:c.1775G>T	12.37:g.57662763C>A	ENSP00000317903:p.Ser592Ile					R3HDM2_ENST00000441731.2_Missense_Mutation_p.S287I|R3HDM2_ENST00000413953.2_Missense_Mutation_p.S319I|R3HDM2_ENST00000403821.2_Missense_Mutation_p.S626I|R3HDM2_ENST00000393811.2_Missense_Mutation_p.S319I|R3HDM2_ENST00000358907.2_Missense_Mutation_p.S592I|R3HDM2_ENST00000347140.3_Missense_Mutation_p.S592I|RP11-123K3.4_ENST00000548184.1_RNA	p.S606I			Q9Y2K5	R3HD2_HUMAN			17	2207	-			592			Gln-rich.		Q2M1T9|Q3ZCT5	Missense_Mutation	SNP	ENST00000347140.3	37	c.1817G>T	CCDS8937.2	.	.	.	.	.	.	.	.	.	.	C	18.17	3.565174	0.65651	.	.	ENSG00000179912	ENST00000413953;ENST00000393811;ENST00000347140;ENST00000402412;ENST00000358907;ENST00000441731;ENST00000429355;ENST00000403821	T;T;T;T;T;T;T;T	0.45276	0.9;0.9;0.9;0.9;0.9;0.9;0.9;0.9	5.07	3.21	0.36854	.	0.341865	0.38164	N	0.001798	T	0.32133	0.0819	L	0.39898	1.24	0.32805	D	0.50063	P;P;P;P	0.48503	0.877;0.641;0.468;0.911	B;B;B;B	0.42422	0.276;0.216;0.216;0.387	T	0.46898	-0.9158	10	0.54805	T	0.06	-0.8964	6.8321	0.23915	0.0:0.6899:0.1484:0.1617	.	626;606;592;319	B5MCG9;B5MCU0;Q9Y2K5;E9PAL1	.;.;R3HD2_HUMAN;.	I	319;319;592;606;592;287;357;626	ENSP00000409146:S319I;ENSP00000377400:S319I;ENSP00000317903:S592I;ENSP00000385839:S606I;ENSP00000351784:S592I;ENSP00000408536:S287I;ENSP00000394676:S357I;ENSP00000385169:S626I	ENSP00000317903:S592I	S	-	2	0	R3HDM2	55949030	0.879000	0.30193	1.000000	0.80357	0.995000	0.86356	0.485000	0.22324	0.819000	0.34492	0.655000	0.94253	AGC		0.587	R3HDM2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000326570.2	NM_014925		5	255	1	0	6.5536e-12	0.27861	8.15559e-12	5	255					A	57662763	C	A	57662763	3	1	13	1	0	0	0	0	1	0	0	0	12888	797	28	5	1187	5	R3HDM2	12	57662763	Missense_Mutation	SNP	C	TCGA-CH-5738-01A-11D-1576-08		57662763	76189132	22	526											
METTL3	56339	broad.mit.edu	37	chr14	21969230	21969230	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aacatgtattaaggaaagagCagtcacctaaagactcatca	18	8	7	8	0	3	2	3	0	0	2	3	3	3	3	1	1	2	2	1	1	6	3			TCGA-CH-5738-01A-11D-1576-08	TCGA-CH-5738-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2df47d25-97d9-4d8b-bd00-01bdfe040ceb	21323ad5-08ed-4261-a1cd-8a5f1457829e	g.chr14:21969230C>G	ENST00000298717.4	-	5	1092	c.941G>C	c.(940-942)tGc>tCc	p.C314S	METTL3_ENST00000538267.1_3'UTR	NM_019852.3	NP_062826.2	Q86U44	MTA70_HUMAN	methyltransferase like 3	314					circadian rhythm (GO:0007623)|gene expression (GO:0010467)|mRNA destabilization (GO:0061157)|mRNA methylation (GO:0080009)|mRNA processing (GO:0006397)|RNA methylation (GO:0001510)|stem cell maintenance (GO:0019827)	MIS complex (GO:0036396)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	mRNA (2'-O-methyladenosine-N6-)-methyltransferase activity (GO:0016422)|RNA binding (GO:0003723)	p.C314S(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	20	all_cancers(95;0.000628)		Epithelial(56;6.61e-06)	GBM - Glioblastoma multiforme(265;0.0146)		AAGGAAAGAGCAGTCACCTAA	0.413																																						ENST00000298717.4																			1	Substitution - Missense(1)	p.C314S(1)	prostate(1)	breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	20						c.(940-942)tGc>tCc		methyltransferase like 3							72	71	72					14																	21969230		2203	4300	6503	SO:0001583	missense	56339				gene expression	nuclear speck	mRNA (2'-O-methyladenosine-N6-)-methyltransferase activity|RNA binding	g.chr14:21969230C>G	AF014837	CCDS32044.1	14q11.1	2012-06-12			ENSG00000165819	ENSG00000165819	2.1.1.62		17563	protein-coding gene	gene with protein product	"N6-adenosine-methyltransferase 70 kDa subunit"	612472					Standard	XM_006720206		Approved	Spo8, M6A, MT-A70	uc001wbc.3	Q86U44	OTTHUMG00000168825	ENST00000298717.4:c.941G>C	14.37:g.21969230C>G	ENSP00000298717:p.Cys314Ser					METTL3_ENST00000538267.1_3'UTR	p.C314S	NM_019852.3	NP_062826.2	Q86U44	MTA70_HUMAN	Epithelial(56;6.61e-06)	GBM - Glioblastoma multiforme(265;0.0146)	5	1092	-	all_cancers(95;0.000628)		314					O14736|Q86V05|Q9HB32	Missense_Mutation	SNP	ENST00000298717.4	37	c.941G>C	CCDS32044.1	.	.	.	.	.	.	.	.	.	.	C	24.1	4.490633	0.84962	.	.	ENSG00000165819	ENST00000298717	.	.	.	5.32	5.32	0.75619	.	0.000000	0.85682	D	0.000000	D	0.84506	0.5487	M	0.86864	2.845	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.86787	0.1983	9	0.87932	D	0	-8.1129	17.9303	0.88994	0.0:1.0:0.0:0.0	.	314	Q86U44	MTA70_HUMAN	S	314	.	ENSP00000298717:C314S	C	-	2	0	METTL3	21039070	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.999000	0.76283	2.760000	0.94817	0.655000	0.94253	TGC		0.413	METTL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401227.1	NM_019852		3	137	0	0	0	0.115264	0	3	137					G	21969230	C	G	21969230	3	3	13	1	0	0	0	0	1	0	0	0	9501	710	25	5	829	5	METTL3	14	21969230	Missense_Mutation	SNP	C	TCGA-CH-5738-01A-11D-1576-08		21969230	85380310	23	527											
ASB2	51676	broad.mit.edu	37	chr14	94401108	94401108	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tggcctttcgaacccgcagtCggcaaaggtgagccagaggt	9	7	14	11	3	0	2	0	1	0	1	2	3	0	2	3	4	2	2	3	4	2	1			TCGA-CH-5738-01A-11D-1576-08	TCGA-CH-5738-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2df47d25-97d9-4d8b-bd00-01bdfe040ceb	21323ad5-08ed-4261-a1cd-8a5f1457829e	g.chr14:94401108C>T	ENST00000315988.4	-	8	2146	c.1658G>A	c.(1657-1659)cGa>cAa	p.R553Q	ASB2_ENST00000555019.1_Missense_Mutation_p.R601Q	NM_016150.4	NP_057234.2	Q96Q27	ASB2_HUMAN	ankyrin repeat and SOCS box containing 2	553	SOCS box. {ECO:0000255|PROSITE- ProRule:PRU00194}.				intracellular signal transduction (GO:0035556)|myoblast differentiation (GO:0045445)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|signal transduction (GO:0007165)|skeletal muscle cell differentiation (GO:0035914)	Cul5-RING ubiquitin ligase complex (GO:0031466)	ubiquitin-protein transferase activity (GO:0004842)	p.R553Q(2)		breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|soft_tissue(1)|urinary_tract(1)	27		all_cancers(154;0.13)		COAD - Colon adenocarcinoma(157;0.217)|Epithelial(152;0.232)		AACCCGCAGTCGGCAAAGGTG	0.488																																						ENST00000555019.1																			2	Substitution - Missense(2)	p.R553Q(2)	prostate(2)	breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|soft_tissue(1)|urinary_tract(1)	27						c.(1801-1803)cGa>cAa		ankyrin repeat and SOCS box containing 2							77	78	78					14																	94401108		2203	4300	6503	SO:0001583	missense	51676				intracellular signal transduction			g.chr14:94401108C>T	AF159164	CCDS9915.1, CCDS55940.1	14q31-q32	2013-01-10	2011-01-25					"Ankyrin repeat domain containing"	16012	protein-coding gene	gene with protein product		605759	"ankyrin repeat and SOCS box-containing 2"				Standard	NM_016150		Approved	ASB-2	uc001ycd.3	Q96Q27		ENST00000315988.4:c.1658G>A	14.37:g.94401108C>T	ENSP00000320675:p.Arg553Gln					ASB2_ENST00000315988.4_Missense_Mutation_p.R553Q	p.R601Q	NM_001202429.1	NP_001189358.1	Q96Q27	ASB2_HUMAN		COAD - Colon adenocarcinoma(157;0.217)|Epithelial(152;0.232)	10	2232	-		all_cancers(154;0.13)	553					B2RDP9|B4E166|Q9NSU5|Q9Y567	Missense_Mutation	SNP	ENST00000315988.4	37	c.1802G>A	CCDS9915.1	.	.	.	.	.	.	.	.	.	.	C	36	5.672173	0.96754	.	.	ENSG00000100628	ENST00000555019;ENST00000434324;ENST00000315988	D;D	0.85484	-1.99;-1.99	5.44	5.44	0.79542	SOCS protein, C-terminal (3);	0.000000	0.85682	D	0.000000	D	0.95513	0.8542	H	0.97611	4.04	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.97110	0.998;1.0	D	0.96291	0.9214	10	0.51188	T	0.08	.	19.2525	0.93930	0.0:1.0:0.0:0.0	.	601;553	B4E166;Q96Q27	.;ASB2_HUMAN	Q	601;569;553	ENSP00000451575:R601Q;ENSP00000320675:R553Q	ENSP00000320675:R553Q	R	-	2	0	ASB2	93470861	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	7.336000	0.79245	2.549000	0.85964	0.491000	0.48974	CGA		0.488	ASB2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000412845.1			46	109	0	0	0	0.870114	0	46	109					T	94401108	C	T	94401108	3	4	13	1	0	0	0	0	1	0	0	0	1023	884	31	2	109	2	ASB2	14	94401108	Missense_Mutation	SNP	C	TCGA-CH-5738-01A-11D-1576-08	72431878	94401108	12948432	24	528											
ADAM10	102	broad.mit.edu	37	chr15	58902623	58902623	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cacagtaacctctaaaatcgTtgcaaggggatccaggttgc	12	9	10	10	1	1	0	0	0	1	0	3	1	2	1	2	3	3	4	2	3	4	4			TCGA-CH-5738-01A-11D-1576-08	TCGA-CH-5738-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2df47d25-97d9-4d8b-bd00-01bdfe040ceb	21323ad5-08ed-4261-a1cd-8a5f1457829e	g.chr15:58902623T>C	ENST00000260408.3	-	14	2341	c.1898A>G	c.(1897-1899)aAc>aGc	p.N633S	ADAM10_ENST00000402627.1_Intron|ADAM10_ENST00000561288.1_Intron|ADAM10_ENST00000396140.2_Missense_Mutation_p.N332S	NM_001110.2	NP_001101.1	O14672	ADA10_HUMAN	ADAM metallopeptidase domain 10	633	Cys-rich.				cell death (GO:0008219)|cell-cell signaling (GO:0007267)|collagen catabolic process (GO:0030574)|constitutive protein ectodomain proteolysis (GO:0051089)|epidermal growth factor receptor signaling pathway (GO:0007173)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|in utero embryonic development (GO:0001701)|integrin-mediated signaling pathway (GO:0007229)|membrane protein ectodomain proteolysis (GO:0006509)|monocyte activation (GO:0042117)|negative regulation of cell adhesion (GO:0007162)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|PMA-inducible membrane protein ectodomain proteolysis (GO:0051088)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of T cell chemotaxis (GO:0010820)|protein phosphorylation (GO:0006468)|response to tumor necrosis factor (GO:0034612)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|Golgi-associated vesicle (GO:0005798)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|tetraspanin-enriched microdomain (GO:0097197)	endopeptidase activity (GO:0004175)|integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|receptor binding (GO:0005102)|zinc ion binding (GO:0008270)	p.N633S(1)		breast(1)|endometrium(1)|kidney(5)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(3)	27				GBM - Glioblastoma multiforme(80;0.202)		TCTAAAATCGTTGCAAGGGGA	0.478																																						ENST00000260408.3																			1	Substitution - Missense(1)	p.N633S(1)	prostate(1)	breast(1)|endometrium(1)|kidney(5)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(3)	27						c.(1897-1899)aAc>aGc		ADAM metallopeptidase domain 10							112	104	107					15																	58902623		2192	4292	6484	SO:0001583	missense	102				cell-cell signaling|constitutive protein ectodomain proteolysis|epidermal growth factor receptor signaling pathway|in utero embryonic development|integrin-mediated signaling pathway|monocyte activation|negative regulation of cell adhesion|Notch receptor processing|Notch signaling pathway|PMA-inducible membrane protein ectodomain proteolysis|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of T cell chemotaxis|protein phosphorylation|response to tumor necrosis factor	cell surface|endomembrane system|Golgi-associated vesicle|integral to membrane|nucleus|plasma membrane	integrin binding|metalloendopeptidase activity|protein homodimerization activity|protein kinase binding|SH3 domain binding|zinc ion binding	g.chr15:58902623T>C	AF009615	CCDS10167.1	15q2	2006-09-25	2005-08-18		ENSG00000137845	ENSG00000137845		"ADAM metallopeptidase domain containing", "CD molecules"	188	protein-coding gene	gene with protein product		602192	"a disintegrin and metalloproteinase domain 10"			9344679, 9441766	Standard	XM_005254117		Approved	kuz, MADM, HsT18717, CD156c	uc002afd.1	O14672	OTTHUMG00000132633	ENST00000260408.3:c.1898A>G	15.37:g.58902623T>C	ENSP00000260408:p.Asn633Ser					ADAM10_ENST00000561288.1_Intron|ADAM10_ENST00000402627.1_Intron|ADAM10_ENST00000396140.2_Missense_Mutation_p.N332S	p.N633S	NM_001110.2	NP_001101.1	O14672	ADA10_HUMAN		GBM - Glioblastoma multiforme(80;0.202)	14	2341	-			633			Cys-rich.		B4DU28|Q10742|Q92650	Missense_Mutation	SNP	ENST00000260408.3	37	c.1898A>G	CCDS10167.1	.	.	.	.	.	.	.	.	.	.	T	27.6	4.842622	0.91197	.	.	ENSG00000137845	ENST00000260408;ENST00000396136;ENST00000396140	T;T	0.26067	1.76;3.06	5.37	5.37	0.77165	.	0.000000	0.85682	D	0.000000	T	0.25606	0.0623	M	0.64997	1.995	0.80722	D	1	P;B;P	0.38551	0.636;0.45;0.636	B;B;B	0.30855	0.121;0.084;0.084	T	0.04961	-1.0915	10	0.31617	T	0.26	-32.899	15.6683	0.77252	0.0:0.0:0.0:1.0	.	332;452;633	B4DU28;A8MY20;O14672	.;.;ADA10_HUMAN	S	633;452;332	ENSP00000260408:N633S;ENSP00000379444:N332S	ENSP00000260408:N633S	N	-	2	0	ADAM10	56689915	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.655000	0.83696	2.154000	0.67381	0.533000	0.62120	AAC		0.478	ADAM10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255880.2	NM_001110		5	161	0	0	0	0.248553	0	5	161					C	58902623	T	C	58902623	3	2	13	1	0	0	0	0	1	0	0	0	234	1725	60	4	360	4	ADAM10	15	58902623	Missense_Mutation	SNP	T	TCGA-CH-5738-01A-11D-1576-08		58902623	43628769	25	529											
KIAA1199	57214	broad.mit.edu	37	chr15	81234649	81234649	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gttccaagcagcacttcttcCacctctggaacgacttcgct	8	11	7	15	2	2	0	0	0	2	0	5	2	4	1	3	1	3	4	3	1	2	4			TCGA-CH-5738-01A-11D-1576-08	TCGA-CH-5738-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2df47d25-97d9-4d8b-bd00-01bdfe040ceb	21323ad5-08ed-4261-a1cd-8a5f1457829e	g.chr15:81234649C>T	ENST00000394685.3	+	27	4089	c.3670C>T	c.(3670-3672)Cac>Tac	p.H1224Y	KIAA1199_ENST00000220244.3_Missense_Mutation_p.H1224Y|KIAA1199_ENST00000356249.5_Missense_Mutation_p.H1224Y|RP11-351M8.2_ENST00000560873.1_RNA			Q8WUJ3	CEMIP_HUMAN		1224					hyaluronan catabolic process (GO:0030214)|positive regulation of cell migration (GO:0030335)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of protein kinase C activity (GO:1900020)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|sensory perception of sound (GO:0007605)	clathrin-coated vesicle membrane (GO:0030665)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	clathrin heavy chain binding (GO:0032050)|ER retention sequence binding (GO:0046923)|hyaluronic acid binding (GO:0005540)|hyalurononglucosaminidase activity (GO:0004415)	p.H1224Y(1)		breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						GCACTTCTTCCACCTCTGGAA	0.478																																						ENST00000394685.3																			1	Substitution - Missense(1)	p.H1224Y(1)	prostate(1)	breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						c.(3670-3672)Cac>Tac		KIAA1199							100	97	98					15																	81234649		2203	4300	6503	SO:0001583	missense	57214							g.chr15:81234649C>T																												ENST00000394685.3:c.3670C>T	15.37:g.81234649C>T	ENSP00000378177:p.His1224Tyr					RP11-351M8.2_ENST00000560873.1_RNA|KIAA1199_ENST00000220244.3_Missense_Mutation_p.H1224Y|KIAA1199_ENST00000356249.5_Missense_Mutation_p.H1224Y	p.H1224Y			Q8WUJ3	K1199_HUMAN			27	4089	+			1224					Q6L9J5|Q9H1K5|Q9NPN9|Q9ULM1	Missense_Mutation	SNP	ENST00000394685.3	37	c.3670C>T	CCDS10315.1	.	.	.	.	.	.	.	.	.	.	C	23.7	4.451349	0.84209	.	.	ENSG00000103888	ENST00000220244;ENST00000394685;ENST00000356249	T;T;T	0.65732	-0.17;-0.17;-0.17	5.88	5.88	0.94601	.	0.000000	0.85682	D	0.000000	T	0.79787	0.4506	M	0.69823	2.125	0.54753	D	0.999989	D	0.69078	0.997	D	0.75484	0.986	T	0.78748	-0.2083	10	0.52906	T	0.07	-38.7501	20.2207	0.98324	0.0:1.0:0.0:0.0	.	1224	Q8WUJ3	K1199_HUMAN	Y	1224	ENSP00000220244:H1224Y;ENSP00000378177:H1224Y;ENSP00000348583:H1224Y	ENSP00000220244:H1224Y	H	+	1	0	KIAA1199	79021704	1.000000	0.71417	1.000000	0.80357	0.587000	0.36485	6.747000	0.74872	2.790000	0.95986	0.591000	0.81541	CAC		0.478	KIAA1199-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000291389.1			47	173	0	0	0	0.870114	0	47	173					T	81234649	C	T	81234649	3	4	13	1	0	0	0	0	1	0	0	0	8213	594	21	3	3768	3	KIAA1199	15	81234649	Missense_Mutation	SNP	C	TCGA-CH-5738-01A-11D-1576-08	22332026	81234649	21296743	26	530											
DNAH9	1770	broad.mit.edu	37	chr17	11790187	11790187	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgaaaatcaacgaggcccgaGagcactaccggccagcagct	13	4	11	13	3	1	2	1	1	0	1	1	4	1	2	3	2	5	3	3	2	4	1			TCGA-CH-5738-01A-11D-1576-08	TCGA-CH-5738-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2df47d25-97d9-4d8b-bd00-01bdfe040ceb	21323ad5-08ed-4261-a1cd-8a5f1457829e	g.chr17:11790187G>A	ENST00000262442.4	+	57	11085	c.11017G>A	c.(11017-11019)Gag>Aag	p.E3673K	DNAH9_ENST00000396001.2_3'UTR|DNAH9_ENST00000454412.2_Missense_Mutation_p.E3673K|DNAH9_ENST00000608377.1_5'UTR	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	3673					cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)	p.E3673K(1)		NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		CGAGGCCCGAGAGCACTACCG	0.527																																						ENST00000262442.3																			1	Substitution - Missense(1)	p.E3673K(1)	prostate(1)	NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290						c.(11017-11019)Gag>Aag		dynein, axonemal, heavy chain 9							93	81	85					17																	11790187		2203	4300	6503	SO:0001583	missense	1770				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:11790187G>A	U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"Axonemal dyneins"	2953	protein-coding gene	gene with protein product		603330	"dynein, axonemal, heavy polypeptide 17-like", "dynein, axonemal, heavy polypeptide 9"	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.11017G>A	17.37:g.11790187G>A	ENSP00000262442:p.Glu3673Lys					DNAH9_ENST00000396001.2_5'UTR|DNAH9_ENST00000454412.2_Missense_Mutation_p.E3673K	p.E3673K	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)	57	11085	+		Breast(5;0.0122)|all_epithelial(5;0.131)	3673					A2VCQ8|O15064|O95494|Q9NQ28	Missense_Mutation	SNP	ENST00000262442.4	37	c.11017G>A	CCDS11160.1	.	.	.	.	.	.	.	.	.	.	G	36	5.793065	0.96952	.	.	ENSG00000007174	ENST00000262442;ENST00000454412;ENST00000413703;ENST00000361801	D;D	0.87412	-2.25;-2.25	5.33	5.33	0.75918	.	0.096519	0.64402	D	0.000001	D	0.93488	0.7922	M	0.88842	2.985	0.80722	D	1	D;D	0.62365	0.978;0.991	P;P	0.56563	0.53;0.801	D	0.94359	0.7586	10	0.87932	D	0	.	19.2213	0.93797	0.0:0.0:1.0:0.0	.	26;3673	B7Z7H0;Q9NYC9	.;DYH9_HUMAN	K	3673;3673;2255;26	ENSP00000262442:E3673K;ENSP00000414874:E3673K	ENSP00000262442:E3673K	E	+	1	0	DNAH9	11730912	1.000000	0.71417	0.993000	0.49108	0.994000	0.84299	9.601000	0.98297	2.775000	0.95449	0.655000	0.94253	GAG		0.527	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2	NM_001372		7	180	0	0	0	0.248553	0	7	180					A	11790187	G	A	11790187	3	1	13	1	0	0	0	0	1	0	0	0	4608	943	33	3	11243	3	DNAH9	17	11790187	Missense_Mutation	SNP	G	TCGA-CH-5738-01A-11D-1576-08		11790187	69405023	27	531											
LLGL1	3996	broad.mit.edu	37	chr17	18137336	18137336	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcctccacagcgtgccagaCgactaccgctgtgggaaggc	8	7	12	14	3	0	1	0	0	0	1	2	3	2	2	4	2	3	1	4	2	2	2	rs374218881		TCGA-CH-5738-01A-11D-1576-08	TCGA-CH-5738-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2df47d25-97d9-4d8b-bd00-01bdfe040ceb	21323ad5-08ed-4261-a1cd-8a5f1457829e	g.chr17:18137336C>T	ENST00000316843.4	+	6	657	c.561C>T	c.(559-561)gaC>gaT	p.D187D		NM_004140.3	NP_004131	Q15334	L2GL1_HUMAN	lethal giant larvae homolog 1 (Drosophila)	187					axonogenesis (GO:0007409)|cortical actin cytoskeleton organization (GO:0030866)|exocytosis (GO:0006887)|Golgi to plasma membrane transport (GO:0006893)|maintenance of apical/basal cell polarity (GO:0035090)|positive regulation of Rab GTPase activity (GO:0032851)|protein complex assembly (GO:0006461)	cell projection (GO:0042995)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|early endosome membrane (GO:0031901)|Golgi cis cisterna (GO:0000137)|myelin sheath abaxonal region (GO:0035748)|trans-Golgi network membrane (GO:0032588)	protein kinase binding (GO:0019901)|Rab GTPase activator activity (GO:0005097)|structural molecule activity (GO:0005198)	p.D187D(2)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21	all_neural(463;0.228)					GCGTGCCAGACGACTACCGCT	0.652																																						ENST00000316843.4																			2	Substitution - coding silent(2)	p.D187D(2)	prostate(2)	breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21						c.(559-561)gaC>gaT		lethal giant larvae homolog 1 (Drosophila)		C		0,4406		0,0,2203	27	31	30		561	-11.7	0	17		30	2,8596	2.2+/-6.3	0,2,4297	no	coding-synonymous	LLGL1	NM_004140.3		0,2,6500	TT,TC,CC		0.0233,0.0,0.0154		187/1065	18137336	2,13002	2203	4299	6502	SO:0001819	synonymous_variant	3996				cortical actin cytoskeleton organization|exocytosis|protein complex assembly	cortical actin cytoskeleton	protein kinase binding|structural molecule activity	g.chr17:18137336C>T		CCDS32586.1	17p11.2	2013-01-10	2001-11-28		ENSG00000131899	ENSG00000131899		"WD repeat domain containing"	6628	protein-coding gene	gene with protein product		600966	"lethal giant larvae (Drosophila) homolog 1"	DLG4, LLGL, HUGL, HUGL-1		7542763, 8565641	Standard	XM_005256643		Approved		uc002gsp.3	Q15334	OTTHUMG00000059396	ENST00000316843.4:c.561C>T	17.37:g.18137336C>T							p.D187D	NM_004140.3	NP_004131.3	Q15334	L2GL1_HUMAN			6	657	+	all_neural(463;0.228)		187					A7MBM7|O00188|Q58F11|Q86UK6	Silent	SNP	ENST00000316843.4	37	c.561C>T	CCDS32586.1																																																																																				0.652	LLGL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132067.3			5	32	0	0	0	0.217242	0	5	32					T	18137336	C	T	18137336	2	4	13	1	0	0	0	0	0	0	0	1	8833	535	19	1		1	LLGL1	17	18137336	Silent	SNP	C	TCGA-CH-5738-01A-11D-1576-08	6347149	18137336	63057874	28	532											
LRRC37A3	374819	broad.mit.edu	37	chr17	62856432	62856432	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	actttctaaaatggaaatagCgtgggttaagtctttccatc	12	14	8	7	1	2	0	0	0	2	0	4	1	3	1	1	2	1	1	1	2	5	5			TCGA-CH-5738-01A-11D-1576-08	TCGA-CH-5738-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2df47d25-97d9-4d8b-bd00-01bdfe040ceb	21323ad5-08ed-4261-a1cd-8a5f1457829e	g.chr17:62856432C>T	ENST00000584306.1	-	11	4362	c.3832G>A	c.(3832-3834)Gct>Act	p.A1278T	LRRC37A3_ENST00000400877.3_Missense_Mutation_p.A316T|LRRC37A3_ENST00000339474.5_Missense_Mutation_p.A396T|LRRC37A3_ENST00000319651.5_Missense_Mutation_p.A1278T|LRRC37A3_ENST00000334962.5_Missense_Mutation_p.A255T	NM_199340.2	NP_955372.2	O60309	L37A3_HUMAN	leucine rich repeat containing 37, member A3	1278						integral component of membrane (GO:0016021)		p.A1278T(1)		NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|liver(1)|lung(10)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						ATGGAAATAGCGTGGGTTAAG	0.453																																						ENST00000584306.1																			1	Substitution - Missense(1)	p.A1278T(1)	prostate(1)	NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|liver(1)|lung(10)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						c.(3832-3834)Gct>Act		leucine rich repeat containing 37, member A3							97	99	98					17																	62856432		2203	4298	6501	SO:0001583	missense	374819					integral to membrane		g.chr17:62856432C>T	AB011135	CCDS32708.1	17q24.1	2008-10-22			ENSG00000176809	ENSG00000176809			32427	protein-coding gene	gene with protein product							Standard	NM_199340		Approved	FLJ34306, KIAA0563	uc031rbi.1	O60309	OTTHUMG00000132307	ENST00000584306.1:c.3832G>A	17.37:g.62856432C>T	ENSP00000464535:p.Ala1278Thr					LRRC37A3_ENST00000319651.5_Missense_Mutation_p.A1278T|LRRC37A3_ENST00000334962.5_Missense_Mutation_p.A255T|LRRC37A3_ENST00000339474.5_Missense_Mutation_p.A396T|LRRC37A3_ENST00000400877.3_Missense_Mutation_p.A316T	p.A1278T	NM_199340.2	NP_955372.2	O60309	L37A3_HUMAN			11	4362	-			1278					Q49A01|Q49A80|Q8NB33	Missense_Mutation	SNP	ENST00000584306.1	37	c.3832G>A	CCDS32708.1	.	.	.	.	.	.	.	.	.	.	.	0.016	-1.512027	0.00984	.	.	ENSG00000176809	ENST00000339474;ENST00000400877;ENST00000334962;ENST00000319651	T;T;T	0.55588	1.63;1.63;0.51	2.26	-2.81	0.05805	.	.	.	.	.	T	0.22399	0.0540	N	0.12569	0.235	0.09310	N	1	B;B	0.15719	0.008;0.014	B;B	0.08055	0.003;0.002	T	0.28839	-1.0031	9	0.02654	T	1	.	3.6515	0.08205	0.0:0.1736:0.485:0.3414	.	396;1278	B4DG20;O60309	.;L37A3_HUMAN	T	359;316;255;1278	ENSP00000383674:A316T;ENSP00000335617:A255T;ENSP00000325713:A1278T	ENSP00000325713:A1278T	A	-	1	0	LRRC37A3	60286894	0.000000	0.05858	0.004000	0.12327	0.022000	0.10575	-1.077000	0.03416	-0.253000	0.09514	0.175000	0.17021	GCT		0.453	LRRC37A3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445377.1	NM_199340		15	300	0	0	0	0.520397	0	15	300					T	62856432	C	T	62856432	3	4	13	1	0	0	0	0	1	0	0	0	8993	768	27	1	1088	1	LRRC37A3	17	62856432	Missense_Mutation	SNP	C	TCGA-CH-5738-01A-11D-1576-08	44719096	62856432	18338778	29	533											
KIAA0355	9710	broad.mit.edu	37	chr19	34818760	34818760	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgaatccaaaggcgattgaaGcaagtttgcaggtacacttt	13	11	10	7	1	0	2	0	2	0	0	1	3	1	2	1	2	3	4	1	2	5	4			TCGA-CH-5738-01A-11D-1576-08	TCGA-CH-5738-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2df47d25-97d9-4d8b-bd00-01bdfe040ceb	21323ad5-08ed-4261-a1cd-8a5f1457829e	g.chr19:34818760G>A	ENST00000299505.6	+	5	1804	c.931G>A	c.(931-933)Gca>Aca	p.A311T		NM_014686.3	NP_055501.2	O15063	K0355_HUMAN	KIAA0355	311								p.A311T(1)		breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	41	Esophageal squamous(110;0.162)					GGCGATTGAAGCAAGTTTGCA	0.453																																						ENST00000299505.6																			1	Substitution - Missense(1)	p.A311T(1)	prostate(1)	breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	41						c.(931-933)Gca>Aca		KIAA0355							85	92	90					19																	34818760		2203	4300	6503	SO:0001583	missense	9710							g.chr19:34818760G>A		CCDS12436.1	19q13.12	2012-11-29			ENSG00000166398	ENSG00000166398			29016	protein-coding gene	gene with protein product						9205841	Standard	NM_014686		Approved		uc002nvd.4	O15063	OTTHUMG00000180505	ENST00000299505.6:c.931G>A	19.37:g.34818760G>A	ENSP00000299505:p.Ala311Thr						p.A311T	NM_014686.3	NP_055501.2	O15063	K0355_HUMAN			5	1804	+	Esophageal squamous(110;0.162)		311					Q2M3W4	Missense_Mutation	SNP	ENST00000299505.6	37	c.931G>A	CCDS12436.1	.	.	.	.	.	.	.	.	.	.	G	19.39	3.817855	0.71028	.	.	ENSG00000166398	ENST00000299505;ENST00000543188	.	.	.	5.46	4.43	0.53597	.	0.114427	0.64402	D	0.000016	T	0.38825	0.1055	N	0.08118	0	0.47621	D	0.999475	B	0.19331	0.035	B	0.16289	0.015	T	0.31024	-0.9958	9	0.87932	D	0	-17.3952	14.1897	0.65630	0.072:0.0:0.928:0.0	.	311	O15063	K0355_HUMAN	T	311;14	.	ENSP00000299505:A311T	A	+	1	0	KIAA0355	39510600	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	5.159000	0.64923	1.327000	0.45338	-0.277000	0.10078	GCA		0.453	KIAA0355-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451678.4	NM_014686		28	183	0	0	0	0.717897	0	28	183					A	34818760	G	A	34818760	3	1	13	1	0	0	0	0	1	0	0	0	8170	971	34	3	945	3	KIAA0355	19	34818760	Missense_Mutation	SNP	G	TCGA-CH-5738-01A-11D-1576-08		34818760	24310223	30	534											
ZNF420	147923	broad.mit.edu	37	chr19	37618589	37618589	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gaagaatgtgggaaagccttTattcgtagctcacaacttac	13	11	9	8	1	1	1	1	0	0	1	2	3	1	2	1	1	4	2	1	1	7	5			TCGA-CH-5738-01A-11D-1576-08	TCGA-CH-5738-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2df47d25-97d9-4d8b-bd00-01bdfe040ceb	21323ad5-08ed-4261-a1cd-8a5f1457829e	g.chr19:37618589T>A	ENST00000337995.3	+	5	911	c.696T>A	c.(694-696)ttT>ttA	p.F232L	ZNF420_ENST00000304239.7_Missense_Mutation_p.F232L|CTC-454I21.4_ENST00000587645.1_RNA|ZNF585A_ENST00000588723.1_Intron	NM_144689.3	NP_653290.2	Q8TAQ5	ZN420_HUMAN	zinc finger protein 420	232					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.F232L(1)		breast(2)|endometrium(2)|large_intestine(9)|lung(10)|prostate(1)|skin(3)	27			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			GGAAAGCCTTTATTCGTAGCT	0.368																																						ENST00000337995.3																			1	Substitution - Missense(1)	p.F232L(1)	prostate(1)	breast(2)|endometrium(2)|large_intestine(9)|lung(10)|prostate(1)|skin(3)	27						c.(694-696)ttT>ttA		zinc finger protein 420							54	58	57					19																	37618589		2203	4300	6503	SO:0001583	missense	147923				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:37618589T>A	AK056695	CCDS12498.1	19q13.12	2013-01-08			ENSG00000197050	ENSG00000197050		"Zinc fingers, C2H2-type", "-"	20649	protein-coding gene	gene with protein product							Standard	NM_144689		Approved	FLJ32191	uc002ofl.3	Q8TAQ5	OTTHUMG00000048168	ENST00000337995.3:c.696T>A	19.37:g.37618589T>A	ENSP00000338770:p.Phe232Leu					ZNF420_ENST00000304239.7_Missense_Mutation_p.F232L|ZNF585A_ENST00000588723.1_Intron	p.F232L	NM_144689.3	NP_653290.2	Q8TAQ5	ZN420_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		5	911	+			232					B2RDY6|Q96ML5	Missense_Mutation	SNP	ENST00000337995.3	37	c.696T>A	CCDS12498.1	.	.	.	.	.	.	.	.	.	.	T	16.61	3.171771	0.57584	.	.	ENSG00000197050	ENST00000304239;ENST00000337995	T;T	0.46063	0.88;0.88	3.98	2.92	0.33932	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.63815	0.2543	M	0.87456	2.885	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	T	0.67385	-0.5684	9	0.87932	D	0	.	7.6394	0.28284	0.0:0.1087:0.0:0.8913	.	232	Q8TAQ5	ZN420_HUMAN	L	232	ENSP00000306102:F232L;ENSP00000338770:F232L	ENSP00000306102:F232L	F	+	3	2	ZNF420	42310429	0.000000	0.05858	1.000000	0.80357	0.997000	0.91878	-0.865000	0.04250	1.663000	0.50791	0.533000	0.62120	TTT		0.368	ZNF420-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109587.3	NM_144689		11	203	0	0	0	0.361761	0	11	203					A	37618589	T	A	37618589	3	1	13	1	0	0	0	0	1	0	0	0	17894	1751	61	5	706	5	ZNF420	19	37618589	Missense_Mutation	SNP	T	TCGA-CH-5738-01A-11D-1576-08	2799829	37618589	21510394	31	535											
HNRNPUL1	11100	broad.mit.edu	37	chr19	41807592	41807592	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gaaggatgtcccagatcatgCggtcttagaaatgaaaggta	14	9	12	6	1	2	3	1	1	1	2	3	5	3	4	1	3	1	1	1	3	5	2			TCGA-CH-5738-01A-11D-1576-08	TCGA-CH-5738-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2df47d25-97d9-4d8b-bd00-01bdfe040ceb	21323ad5-08ed-4261-a1cd-8a5f1457829e	g.chr19:41807592C>T	ENST00000392006.3	+	11	1843	c.1670C>T	c.(1669-1671)gCg>gTg	p.A557V	HNRNPUL1_ENST00000263367.3_Missense_Mutation_p.A468V|HNRNPUL1_ENST00000602130.1_Missense_Mutation_p.A557V|HNRNPUL1_ENST00000593587.1_Missense_Mutation_p.A457V|HNRNPUL1_ENST00000595018.1_Missense_Mutation_p.A457V|HNRNPUL1_ENST00000378215.4_Missense_Mutation_p.A443V|HNRNPUL1_ENST00000352456.3_Missense_Mutation_p.A457V	NM_007040.3	NP_008971.2	Q9BUJ2	HNRL1_HUMAN	heterogeneous nuclear ribonucleoprotein U-like 1	557	Necessary for interaction with BRD7 and transcriptional activation.|Necessary for interaction with TP53.				gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|regulation of transcription, DNA-templated (GO:0006355)|response to virus (GO:0009615)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	enzyme binding (GO:0019899)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.A557V(1)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	29						CCAGATCATGCGGTCTTAGAA	0.483																																						ENST00000392006.3																			1	Substitution - Missense(1)	p.A557V(1)	prostate(1)	breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	29						c.(1669-1671)gCg>gTg		heterogeneous nuclear ribonucleoprotein U-like 1							109	91	97					19																	41807592		2203	4300	6503	SO:0001583	missense	11100				nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|response to virus|transcription, DNA-dependent	heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	enzyme binding|RNA binding	g.chr19:41807592C>T	AJ007509	CCDS12576.1, CCDS12577.1	19q13.2	2013-06-12		2008-04-18	ENSG00000105323	ENSG00000105323			17011	protein-coding gene	gene with protein product	"E1B 55kDa associated protein 5"	605800		HNRPUL1		9733834, 12489984	Standard	XM_005258459		Approved	E1B-AP5, E1BAP5, FLJ12944	uc002oqb.4	Q9BUJ2	OTTHUMG00000182740	ENST00000392006.3:c.1670C>T	19.37:g.41807592C>T	ENSP00000375863:p.Ala557Val					HNRNPUL1_ENST00000593587.1_Missense_Mutation_p.A457V|HNRNPUL1_ENST00000352456.3_Missense_Mutation_p.A457V|HNRNPUL1_ENST00000263367.3_Missense_Mutation_p.A468V|HNRNPUL1_ENST00000602130.1_Missense_Mutation_p.A557V|HNRNPUL1_ENST00000378215.4_Missense_Mutation_p.A443V|HNRNPUL1_ENST00000595018.1_Missense_Mutation_p.A457V	p.A557V	NM_007040.3	NP_008971.2	Q9BUJ2	HNRL1_HUMAN			11	1843	+			557			Necessary for interaction with BRD7 and transcriptional activation.|Necessary for interaction with TP53.		B3KMW7|O76022|Q6ZSZ0|Q7L8P4|Q8N6Z4|Q96G37|Q9HAL3|Q9UG75	Missense_Mutation	SNP	ENST00000392006.3	37	c.1670C>T	CCDS12576.1	.	.	.	.	.	.	.	.	.	.	C	36	5.719497	0.96839	.	.	ENSG00000105323	ENST00000352456;ENST00000392006;ENST00000378215;ENST00000263367	T;T;T;T	0.42131	0.98;0.98;0.98;0.98	6.06	6.06	0.98353	.	0.000000	0.85682	D	0.000000	T	0.61961	0.2389	L	0.49571	1.57	0.80722	D	1	P;P;D;D;P;P	0.89917	0.951;0.951;0.994;1.0;0.9;0.939	P;P;P;D;P;P	0.85130	0.818;0.818;0.841;0.997;0.751;0.723	T	0.59101	-0.7517	10	0.59425	D	0.04	-12.4957	19.3958	0.94607	0.0:1.0:0.0:0.0	.	468;457;557;443;557;457	B7Z4B8;A8K3W4;Q9BUJ2-2;Q9BUJ2-3;Q9BUJ2;Q9BUJ2-4	.;.;.;.;HNRL1_HUMAN;.	V	457;557;443;468	ENSP00000340857:A457V;ENSP00000375863:A557V;ENSP00000367460:A443V;ENSP00000263367:A468V	ENSP00000263367:A468V	A	+	2	0	HNRNPUL1	46499432	1.000000	0.71417	0.993000	0.49108	0.998000	0.95712	7.771000	0.85420	2.879000	0.98667	0.650000	0.86243	GCG		0.483	HNRNPUL1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463406.1	NM_144732, NM_007040		4	150	0	0	0	0.184627	0	4	150					T	41807592	C	T	41807592	3	4	13	1	0	0	0	0	1	0	0	0	7274	768	27	1	1712	1	HNRNPUL1	19	41807592	Missense_Mutation	SNP	C	TCGA-CH-5738-01A-11D-1576-08	4189003	41807592	17321391	32	536											
SHANK1	50944	broad.mit.edu	37	chr19	51219979	51219979	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcatgctgaagtgggcgtcGtctgggacggacattgagcg	8	9	16	8	4	2	2	1	2	1	0	3	4	2	4	0	3	2	1	0	3	1	1	rs545121253		TCGA-CH-5738-01A-11D-1576-08	TCGA-CH-5738-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2df47d25-97d9-4d8b-bd00-01bdfe040ceb	21323ad5-08ed-4261-a1cd-8a5f1457829e	g.chr19:51219979G>A	ENST00000293441.1	-	1	216	c.198C>T	c.(196-198)gaC>gaT	p.D66D	SHANK1_ENST00000359082.3_Silent_p.D66D|SHANK1_ENST00000391814.1_Silent_p.D66D	NM_016148.2	NP_057232.2	Q9Y566	SHAN1_HUMAN	SH3 and multiple ankyrin repeat domains 1	66					adult behavior (GO:0030534)|associative learning (GO:0008306)|cytoskeletal anchoring at plasma membrane (GO:0007016)|dendritic spine morphogenesis (GO:0060997)|determination of affect (GO:0050894)|habituation (GO:0046959)|long-term memory (GO:0007616)|negative regulation of actin filament bundle assembly (GO:0032232)|neuromuscular process controlling balance (GO:0050885)|olfactory behavior (GO:0042048)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|protein complex assembly (GO:0006461)|protein localization to synapse (GO:0035418)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|righting reflex (GO:0060013)|social behavior (GO:0035176)|synapse maturation (GO:0060074)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|excitatory synapse (GO:0060076)|intracellular (GO:0005622)|membrane (GO:0016020)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	ankyrin repeat binding (GO:0071532)|GKAP/Homer scaffold activity (GO:0030160)|identical protein binding (GO:0042802)|ionotropic glutamate receptor binding (GO:0035255)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|scaffold protein binding (GO:0097110)|SH3 domain binding (GO:0017124)|somatostatin receptor binding (GO:0031877)	p.D66D(2)		breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		AGTGGGCGTCGTCTGGGACGG	0.672																																						ENST00000293441.1																			2	Substitution - coding silent(2)	p.D66D(2)	prostate(1)|kidney(1)	breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64						c.(196-198)gaC>gaT		SH3 and multiple ankyrin repeat domains 1							81	68	72					19																	51219979		2203	4300	6503	SO:0001819	synonymous_variant	50944				cytoskeletal anchoring at plasma membrane	cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane	ionotropic glutamate receptor binding	g.chr19:51219979G>A	AF163302	CCDS12799.1	19q13.3	2013-01-10			ENSG00000161681	ENSG00000161681		"Sterile alpha motif (SAM) domain containing", "Ankyrin repeat domain containing"	15474	protein-coding gene	gene with protein product	"somatostatin receptor-interacting protein"	604999				10551867	Standard	NM_016148		Approved	SSTRIP, SPANK-1, synamon	uc002psx.1	Q9Y566	OTTHUMG00000137380	ENST00000293441.1:c.198C>T	19.37:g.51219979G>A						SHANK1_ENST00000359082.3_Silent_p.D66D|SHANK1_ENST00000391814.1_Silent_p.D66D	p.D66D	NM_016148.2	NP_057232.2	Q9Y566	SHAN1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)	1	216	-		all_neural(266;0.057)	66					A8MXP5|B7WNY6|Q9NYW9	Silent	SNP	ENST00000293441.1	37	c.198C>T	CCDS12799.1																																																																																				0.672	SHANK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268071.1	NM_016148		4	141	0	0	0	0.150653	0	4	141					A	51219979	G	A	51219979	2	1	13	1	0	0	0	0	0	0	0	1	14264	1136	40	1		1	SHANK1	19	51219979	Silent	SNP	G	TCGA-CH-5738-01A-11D-1576-08	9412387	51219979	7909004	33	537											
ZNF600	162966	broad.mit.edu	37	chr19	53270592	53270592	+	Nonsense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaattcggggaattattcccAtagttattagaaatatggat	14	14	9	4	1	0	1	0	0	0	1	2	4	1	3	1	3	0	1	1	3	8	7			TCGA-CH-5738-01A-11D-1576-08	TCGA-CH-5738-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2df47d25-97d9-4d8b-bd00-01bdfe040ceb	21323ad5-08ed-4261-a1cd-8a5f1457829e	g.chr19:53270592A>C	ENST00000338230.3	-	3	684	c.417T>G	c.(415-417)taT>taG	p.Y139*		NM_198457.2	NP_940859	Q6ZNG1	ZN600_HUMAN	zinc finger protein 600	139					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.Y139*(2)		breast(2)|endometrium(2)|kidney(4)|large_intestine(9)|liver(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	30				OV - Ovarian serous cystadenocarcinoma(262;0.0241)|GBM - Glioblastoma multiforme(134;0.0404)		AATTATTCCCATAGTTATTAG	0.373																																					Esophageal Squamous(196;1235 2112 2375 33339 34207)	ENST00000338230.3																			2	Substitution - Nonsense(2)	p.Y139*(2)	prostate(1)|lung(1)	breast(2)|endometrium(2)|kidney(4)|large_intestine(9)|liver(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	30						c.(415-417)taT>taG		zinc finger protein 600							108	114	112					19																	53270592		2200	4300	6500	SO:0001587	stop_gained	162966				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53270592A>C	U52096	CCDS12856.1	19q13.42	2013-01-08				ENSG00000189190		"Zinc fingers, C2H2-type"	30951	protein-coding gene	gene with protein product						12576331	Standard	NM_198457		Approved	KR-ZNF1, DKFZp686F06123	uc002qab.4	Q6ZNG1		ENST00000338230.3:c.417T>G	19.37:g.53270592A>C	ENSP00000344791:p.Tyr139*						p.Y139*	NM_198457.2	NP_940859.2	Q6ZNG1	ZN600_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0241)|GBM - Glioblastoma multiforme(134;0.0404)	3	684	-			139					Q6MZR0	Nonsense_Mutation	SNP	ENST00000338230.3	37	c.417T>G	CCDS12856.1	.	.	.	.	.	.	.	.	.	.	.	17.45	3.393180	0.62066	.	.	ENSG00000189190	ENST00000338230	.	.	.	1.15	1.15	0.20763	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.33141	T	0.24	.	4.5436	0.12071	1.0:0.0:0.0:0.0	.	.	.	.	X	139	.	ENSP00000344791:Y139X	Y	-	3	2	ZNF600	57962404	0.119000	0.22226	0.001000	0.08648	0.002000	0.02628	0.566000	0.23593	0.813000	0.34350	0.248000	0.18094	TAT		0.373	ZNF600-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463093.1	NM_198457		5	390	0	0	0	0.184627	0	5	390					C	53270592	A	C	53270592	4	2	13	1	0	0	0	0	0	1	0	0	18027	224	8	5	1755	5	ZNF600	19	53270592	Nonsense_Mutation	SNP	A	TCGA-CH-5738-01A-11D-1576-08	2050613	53270592	5858391	34	538											
NRIP1	8204	broad.mit.edu	37	chr21	16338592	16338592	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctcttccactgacatggatGactgcattccacattgtgct	8	13	8	12	0	1	2	0	2	1	0	3	3	3	3	2	1	2	3	2	1	0	3			TCGA-CH-5738-01A-11D-1576-08	TCGA-CH-5738-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2df47d25-97d9-4d8b-bd00-01bdfe040ceb	21323ad5-08ed-4261-a1cd-8a5f1457829e	g.chr21:16338592G>T	ENST00000400202.1	-	3	2634	c.1922C>A	c.(1921-1923)tCa>tAa	p.S641*	AF127577.10_ENST00000446301.1_RNA|NRIP1_ENST00000400199.1_Nonsense_Mutation_p.S641*|NRIP1_ENST00000318948.4_Nonsense_Mutation_p.S641*			P48552	NRIP1_HUMAN	nuclear receptor interacting protein 1	641	Repression domain 2.				androgen receptor signaling pathway (GO:0030521)|lipid storage (GO:0019915)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|ovarian follicle rupture (GO:0001543)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|histone deacetylase complex (GO:0000118)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|estrogen receptor binding (GO:0030331)|glucocorticoid receptor binding (GO:0035259)|nuclear hormone receptor binding (GO:0035257)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)	p.S641*(1)		cervix(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(13)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	39				Epithelial(23;1.19e-05)|all cancers(11;4.64e-05)|COAD - Colon adenocarcinoma(22;0.000232)|Colorectal(24;0.0006)|OV - Ovarian serous cystadenocarcinoma(11;0.00418)|Lung(58;0.199)|LUSC - Lung squamous cell carcinoma(23;0.24)		TGACATGGATGACTGCATTCC	0.438																																						ENST00000400202.1																			1	Substitution - Nonsense(1)	p.S641*(1)	prostate(1)	cervix(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(13)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	39						c.(1921-1923)tCa>tAa		nuclear receptor interacting protein 1							154	155	155					21																	16338592		2203	4300	6503	SO:0001587	stop_gained	8204				androgen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		androgen receptor binding|estrogen receptor binding|glucocorticoid receptor binding|transcription coactivator activity|transcription corepressor activity	g.chr21:16338592G>T	X84373	CCDS13568.1	21q11.2	2008-07-31			ENSG00000180530	ENSG00000180530			8001	protein-coding gene	gene with protein product	"receptor interacting protein 140", "nuclear factor RIP140"	602490				7641693, 9521594	Standard	NM_003489		Approved	RIP140	uc002yjx.2	P48552	OTTHUMG00000074323	ENST00000400202.1:c.1922C>A	21.37:g.16338592G>T	ENSP00000383063:p.Ser641*					NRIP1_ENST00000400199.1_Nonsense_Mutation_p.S641*|NRIP1_ENST00000318948.4_Nonsense_Mutation_p.S641*	p.S641*			P48552	NRIP1_HUMAN		Epithelial(23;1.19e-05)|all cancers(11;4.64e-05)|COAD - Colon adenocarcinoma(22;0.000232)|Colorectal(24;0.0006)|OV - Ovarian serous cystadenocarcinoma(11;0.00418)|Lung(58;0.199)|LUSC - Lung squamous cell carcinoma(23;0.24)	3	2634	-			641			Repression domain 2.		Q8IWE8	Nonsense_Mutation	SNP	ENST00000400202.1	37	c.1922C>A	CCDS13568.1	.	.	.	.	.	.	.	.	.	.	G	41	9.136693	0.99077	.	.	ENSG00000180530	ENST00000400199;ENST00000400202;ENST00000318948	.	.	.	5.69	5.69	0.88448	.	0.147292	0.46442	D	0.000298	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	3.9401	17.1324	0.86729	0.0:0.1261:0.8739:0.0	.	.	.	.	X	641	.	ENSP00000327213:S641X	S	-	2	0	NRIP1	15260463	1.000000	0.71417	0.998000	0.56505	0.360000	0.29518	2.536000	0.45693	2.865000	0.98341	0.655000	0.94253	TCA		0.438	NRIP1-002	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157926.1	NM_003489		8	316	1	0	1.06961e-07	0.27861	1.27443e-07	8	316					T	16338592	G	T	16338592	4	4	13	1	0	0	0	0	0	1	0	0	10652	1294	45	5	1558	5	NRIP1	21	16338592	Nonsense_Mutation	SNP	G	TCGA-CH-5738-01A-11D-1576-08		16338592	31791303	35	539											
ADAMTS1	9510	broad.mit.edu	37	chr21	28211980	28211980	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcacctgtcctttggtgagaCgccagcgtacttgggaatcc	7	10	12	12	2	0	1	0	1	0	1	2	3	2	2	4	2	2	2	4	2	2	3	rs201769018		TCGA-CH-5738-01A-11D-1576-08	TCGA-CH-5738-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2df47d25-97d9-4d8b-bd00-01bdfe040ceb	21323ad5-08ed-4261-a1cd-8a5f1457829e	g.chr21:28211980C>T	ENST00000284984.3	-	7	2408	c.1954G>A	c.(1954-1956)Gtc>Atc	p.V652I		NM_006988.3	NP_008919.3	Q9UHI8	ATS1_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 1	652	Cys-rich.				heart trabecula formation (GO:0060347)|integrin-mediated signaling pathway (GO:0007229)|kidney development (GO:0001822)|negative regulation of cell proliferation (GO:0008285)|ovulation from ovarian follicle (GO:0001542)	basement membrane (GO:0005604)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)	heparin binding (GO:0008201)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.V652I(2)		central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(20)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	42		Breast(209;0.000962)		Lung(58;0.215)		TTTGGTGAGACGCCAGCGTAC	0.468													C|||	1	0.000199681	0	0	5008	,	,		16223	0		0.001	False		,,,				2504	0					ENST00000284984.2																			2	Substitution - Missense(2)	p.V652I(2)	prostate(2)	central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(20)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	42						c.(1954-1956)Gtc>Atc		ADAM metallopeptidase with thrombospondin type 1 motif, 1							127	121	123					21																	28211980		2203	4300	6503	SO:0001583	missense	9510				integrin-mediated signaling pathway|negative regulation of cell proliferation|proteolysis		heparin binding|zinc ion binding	g.chr21:28211980C>T	AF060152	CCDS33524.1	21q21.3	2008-05-14	2005-08-19		ENSG00000154734	ENSG00000154734		"ADAM metallopeptidases with thrombospondin type 1 motif"	217	protein-coding gene	gene with protein product		605174	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 1"			10438512	Standard	NM_006988		Approved	C3-C5, METH1, KIAA1346	uc002ymf.3	Q9UHI8	OTTHUMG00000078688	ENST00000284984.3:c.1954G>A	21.37:g.28211980C>T	ENSP00000284984:p.Val652Ile						p.V652I	NM_006988.3	NP_008919.3	Q9UHI8	ATS1_HUMAN		Lung(58;0.215)	7	2408	-		Breast(209;0.000962)	652			Cys-rich.		D3DSD5|Q9NSJ8|Q9P2K0|Q9UH83|Q9UP80	Missense_Mutation	SNP	ENST00000284984.3	37	c.1954G>A	CCDS33524.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	10.29	1.308055	0.23821	.	.	ENSG00000154734	ENST00000284984	T	0.59502	0.26	5.35	5.35	0.76521	.	.	.	.	.	T	0.52645	0.1747	L	0.52905	1.665	0.54753	D	0.999989	P	0.45396	0.857	B	0.40677	0.337	T	0.50118	-0.8865	9	0.30854	T	0.27	.	13.8532	0.63510	0.0:0.9272:0.0:0.0728	.	652	Q9UHI8	ATS1_HUMAN	I	652	ENSP00000284984:V652I	ENSP00000284984:V652I	V	-	1	0	ADAMTS1	27133851	1.000000	0.71417	0.931000	0.37212	0.048000	0.14542	4.517000	0.60503	2.941000	0.99782	0.655000	0.94253	GTC		0.468	ADAMTS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171650.2			20	299	0	0	0	0.575678	0	20	299					T	28211980	C	T	28211980	3	4	13	1	0	0	0	0	1	0	0	0	255	536	19	1	961	1	ADAMTS1	21	28211980	Missense_Mutation	SNP	C	TCGA-CH-5738-01A-11D-1576-08	11873388	28211980	19917915	36	540											
TBC1D10A	83874	broad.mit.edu	37	chr22	30688748	30688748	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tgcagcctgggcggggagcgGcactgcagctcaccccgggt	5	5	17	14	3	1	0	1	0	0	0	1	1	1	1	3	5	5	4	3	5	0	0			TCGA-CH-5738-01A-11D-1576-08	TCGA-CH-5738-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2df47d25-97d9-4d8b-bd00-01bdfe040ceb	21323ad5-08ed-4261-a1cd-8a5f1457829e	g.chr22:30688748G>A	ENST00000215790.7	-	9	1307	c.1143C>T	c.(1141-1143)tgC>tgT	p.C381C	TBC1D10A_ENST00000403477.3_Silent_p.C388C|TBC1D10A_ENST00000403362.1_Silent_p.C293C|RP1-130H16.18_ENST00000447976.1_Intron	NM_031937.2	NP_114143.1	Q9BXI6	TB10A_HUMAN	TBC1 domain family, member 10A	381					activation of cysteine-type endopeptidase activity (GO:0097202)|positive regulation of proteolysis (GO:0045862)|retrograde transport, endosome to Golgi (GO:0042147)	extracellular vesicular exosome (GO:0070062)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|PDZ domain binding (GO:0030165)|Rab GTPase activator activity (GO:0005097)	p.C381C(1)		cervix(2)|endometrium(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	23						GCGGGGAGCGGCACTGCAGCT	0.657																																						ENST00000215790.7																			1	Substitution - coding silent(1)	p.C381C(1)	prostate(1)	cervix(2)|endometrium(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	23						c.(1141-1143)tgC>tgT		TBC1 domain family, member 10A							28	31	30					22																	30688748		2203	4300	6503	SO:0001819	synonymous_variant	83874					intracellular|microvillus	guanyl-nucleotide exchange factor activity|PDZ domain binding|Rab GTPase activator activity	g.chr22:30688748G>A	AF331038	CCDS13874.1, CCDS56227.1	22q12.2	2013-07-09	2005-03-10	2005-03-10	ENSG00000099992	ENSG00000099992			23609	protein-coding gene	gene with protein product	"EBP50-PDZ interactor of 64 kD"	610020	"TBC1 domain family, member 10"	TBC1D10		11285285, 20404108	Standard	NM_001204240		Approved	EPI64, AC004997.C22.2	uc010gvu.3	Q9BXI6	OTTHUMG00000150924	ENST00000215790.7:c.1143C>T	22.37:g.30688748G>A						RP1-130H16.18_ENST00000447976.1_Intron|TBC1D10A_ENST00000403362.1_Silent_p.C293C|TBC1D10A_ENST00000403477.3_Silent_p.C388C	p.C381C	NM_031937.2	NP_114143.1	Q9BXI6	TB10A_HUMAN			9	1307	-			381					B3KXT8|O76053|Q20WK7|Q543A2	Silent	SNP	ENST00000215790.7	37	c.1143C>T	CCDS13874.1																																																																																				0.657	TBC1D10A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000320550.1	NM_031937		4	55	0	0	0	0.184627	0	4	55					A	30688748	G	A	30688748	2	1	13	1	0	0	0	0	0	0	0	1	15595	1195	42	3		3	TBC1D10A	22	30688748	Silent	SNP	G	TCGA-CH-5738-01A-11D-1576-08		30688748	20615818	37	541											
SYN3	8224	broad.mit.edu	37	chr22	33260926	33260926	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcttatggttggggaaaaaTgtttgctccacaagcgggaa	11	10	14	6	1	0	0	0	0	0	0	1	2	1	2	1	5	2	4	1	5	5	3			TCGA-CH-5738-01A-11D-1576-08	TCGA-CH-5738-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2df47d25-97d9-4d8b-bd00-01bdfe040ceb	21323ad5-08ed-4261-a1cd-8a5f1457829e	g.chr22:33260926T>C	ENST00000358763.2	-	6	929	c.687A>G	c.(685-687)acA>acG	p.T229T	SYN3_ENST00000332840.5_Silent_p.T229T	NM_001135774.1	NP_001129246.1	O14994	SYN3_HUMAN	synapsin III	229	C; actin-binding and synaptic-vesicle binding.				neurotransmitter secretion (GO:0007269)|regulation of synaptic transmission, GABAergic (GO:0032228)	cell junction (GO:0030054)|synaptic vesicle (GO:0008021)|synaptic vesicle membrane (GO:0030672)	ATP binding (GO:0005524)|catalytic activity (GO:0003824)	p.T229T(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						TGGGGAAAAATGTTTGCTCCA	0.438																																						ENST00000358763.2																			1	Substitution - coding silent(1)	p.T229T(1)	prostate(1)	breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						c.(685-687)acA>acG		synapsin III							213	214	214					22																	33260926		2203	4300	6503	SO:0001819	synonymous_variant	8224				neurotransmitter secretion	cell junction|synaptic vesicle membrane	ATP binding|ligase activity	g.chr22:33260926T>C	AF046873	CCDS13908.1	22q12.3	2008-05-14			ENSG00000185666	ENSG00000185666			11496	protein-coding gene	gene with protein product		602705				9539796	Standard	NM_003490		Approved		uc003amx.3	O14994	OTTHUMG00000031004	ENST00000358763.2:c.687A>G	22.37:g.33260926T>C						SYN3_ENST00000332840.5_Silent_p.T229T	p.T229T	NM_001135774.1	NP_001129246.1	O14994	SYN3_HUMAN			6	929	-			229			C; actin-binding and synaptic-vesicle binding.		B1B1F9	Silent	SNP	ENST00000358763.2	37	c.687A>G	CCDS13908.1																																																																																				0.438	SYN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075892.4			15	371	0	0	0	0.500413	0	15	371					C	33260926	T	C	33260926	2	2	13	1	0	0	0	0	0	0	0	1	15439	1451	51	4		4	SYN3	22	33260926	Silent	SNP	T	TCGA-CH-5738-01A-11D-1576-08	2572178	33260926	18043640	38	542											
POF1B	79983	broad.mit.edu	37	chrX	84561266	84561266	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttagtctgtattccatgtctGatagtgtatgtcgaagagag	10	15	11	5	1	2	2	0	1	2	1	4	4	3	2	1	0	0	2	1	0	5	5			TCGA-CH-5738-01A-11D-1576-08	TCGA-CH-5738-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2df47d25-97d9-4d8b-bd00-01bdfe040ceb	21323ad5-08ed-4261-a1cd-8a5f1457829e	g.chrX:84561266G>T	ENST00000262753.4	-	12	1383	c.1238C>A	c.(1237-1239)tCa>tAa	p.S413*	POF1B_ENST00000373145.3_Nonsense_Mutation_p.S413*	NM_024921.3	NP_079197.3	Q8WVV4	POF1B_HUMAN	premature ovarian failure, 1B	413						tight junction (GO:0005923)		p.S413*(2)		central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1)	35						TTCCATGTCTGATAGTGTATG	0.343																																						ENST00000262753.4																			2	Substitution - Nonsense(2)	p.S413*(2)	prostate(2)	central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1)	35						c.(1237-1239)tCa>tAa		premature ovarian failure, 1B							166	138	147					X																	84561266		2203	4300	6503	SO:0001587	stop_gained	79983						actin binding	g.chrX:84561266G>T	BC017500	CCDS14452.1	Xq21.2	2008-02-05			ENSG00000124429	ENSG00000124429			13711	protein-coding gene	gene with protein product		300603				11299520	Standard	NM_024921		Approved	POF, FLJ22792	uc004eer.2	Q8WVV4	OTTHUMG00000021934	ENST00000262753.4:c.1238C>A	X.37:g.84561266G>T	ENSP00000262753:p.Ser413*					POF1B_ENST00000373145.3_Nonsense_Mutation_p.S413*	p.S413*	NM_024921.3	NP_079197.3	Q8WVV4	POF1B_HUMAN			12	1383	-			413					A8K2U5|Q5H9E9|Q5H9F0|Q8NG12|Q9H5Y2|Q9H738|Q9H744	Nonsense_Mutation	SNP	ENST00000262753.4	37	c.1238C>A	CCDS14452.1	.	.	.	.	.	.	.	.	.	.	g	38	6.679839	0.97755	.	.	ENSG00000124429	ENST00000262753;ENST00000373145	.	.	.	5.88	5.88	0.94601	.	0.281536	0.37136	N	0.002221	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-0.0049	12.1679	0.54141	0.0:0.1672:0.8328:0.0	.	.	.	.	X	413	.	ENSP00000262753:S413X	S	-	2	0	POF1B	84447922	1.000000	0.71417	0.990000	0.47175	0.974000	0.67602	2.806000	0.47947	2.480000	0.83734	0.597000	0.82753	TCA		0.343	POF1B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000057391.2	NM_024921		50	155	1	0	1.30409e-13	0.870114	1.65975e-13	50	155					T	84561266	G	T	84561266	4	4	13	1	0	0	0	0	0	1	0	0	12182	1294	45	5	555	5	POF1B	23	84561266	Nonsense_Mutation	SNP	G	TCGA-CH-5738-01A-11D-1576-08		84561266	70709294	39	543											
GABRQ	55879	broad.mit.edu	37	chrX	151821286	151821286	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atgacagtatttttcctaccGaaatccgcaaccgtgtcgaa	12	11	7	11	4	0	1	0	1	0	0	3	3	2	1	4	0	2	2	4	0	5	4			TCGA-CH-5738-01A-11D-1576-08	TCGA-CH-5738-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2df47d25-97d9-4d8b-bd00-01bdfe040ceb	21323ad5-08ed-4261-a1cd-8a5f1457829e	g.chrX:151821286G>A	ENST00000370306.2	+	9	1461	c.1441G>A	c.(1441-1443)Gaa>Aaa	p.E481K		NM_018558.2	NP_061028.3	Q9UN88	GBRT_HUMAN	gamma-aminobutyric acid (GABA) A receptor, theta	481					neurotransmitter transport (GO:0006836)|signal transduction (GO:0007165)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)|neurotransmitter transporter activity (GO:0005326)|transmembrane signaling receptor activity (GO:0004888)	p.E481K(2)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(9)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	52	Acute lymphoblastic leukemia(192;6.56e-05)				Acamprosate(DB00659)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	TTTTCCTACCGAAATCCGCAA	0.547																																						ENST00000370306.2																			2	Substitution - Missense(2)	p.E481K(2)	prostate(2)	breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(9)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	52						c.(1441-1443)Gaa>Aaa		gamma-aminobutyric acid (GABA) A receptor, theta							126	109	115					X																	151821286		2203	4300	6503	SO:0001583	missense	55879					cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|neurotransmitter transporter activity	g.chrX:151821286G>A	U47334	CCDS14707.1	Xq28	2012-06-22	2012-02-03		ENSG00000147402	ENSG00000268089		"GABA receptors", "Ligand-gated ion channels / GABA(A) receptors"	14454	protein-coding gene	gene with protein product	"GABA(A) receptor, theta"	300349	"gamma-aminobutyric acid (GABA) receptor, theta"			10804200, 10449790	Standard	NM_018558		Approved	THETA	uc004ffp.1	Q9UN88	OTTHUMG00000022649	ENST00000370306.2:c.1441G>A	X.37:g.151821286G>A	ENSP00000359329:p.Glu481Lys						p.E481K	NM_018558.2	NP_061028.2	Q9UN88	GBRT_HUMAN			9	1461	+	Acute lymphoblastic leukemia(192;6.56e-05)		481					A6NFN1|Q32MB4|Q9NZK8	Missense_Mutation	SNP	ENST00000370306.2	37	c.1441G>A	CCDS14707.1	.	.	.	.	.	.	.	.	.	.	G	3.112	-0.182412	0.06340	.	.	ENSG00000147402	ENST00000370306	T	0.77489	-1.1	4.59	-1.05	0.10036	Neurotransmitter-gated ion-channel transmembrane domain (2);	1.657650	0.03269	N	0.184502	T	0.60353	0.2262	N	0.19112	0.55	0.09310	N	1	B	0.18310	0.027	B	0.12837	0.008	T	0.37934	-0.9684	10	0.15499	T	0.54	.	4.5485	0.12092	0.5305:0.1754:0.2941:0.0	.	481	Q9UN88	GBRT_HUMAN	K	481	ENSP00000359329:E481K	ENSP00000359329:E481K	E	+	1	0	GABRQ	151571942	0.000000	0.05858	0.000000	0.03702	0.025000	0.11179	-0.421000	0.07053	-0.358000	0.08162	0.600000	0.82982	GAA		0.547	GABRQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058763.2	NM_018558		4	161	0	0	0	0.184627	0	4	161					A	151821286	G	A	151821286	3	1	13	1	0	0	0	0	1	0	0	0	6175	1059	37	2	1475	2	GABRQ	23	151821286	Missense_Mutation	SNP	G	TCGA-CH-5738-01A-11D-1576-08	67260020	151821286	3449274	40	544											
MAGEA6	4105	broad.mit.edu	37	chrX	151869832	151869832	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagtggaccccatcggccaCgtgtacatctttgccacctg	8	9	10	14	2	1	0	0	0	1	0	2	2	1	1	5	2	2	1	5	2	2	2			TCGA-CH-5738-01A-11D-1576-08	TCGA-CH-5738-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2df47d25-97d9-4d8b-bd00-01bdfe040ceb	21323ad5-08ed-4261-a1cd-8a5f1457829e	g.chrX:151869832C>T	ENST00000329342.5	+	3	747	c.522C>T	c.(520-522)caC>caT	p.H174H		NM_005363.2	NP_005354.1	P43360	MAGA6_HUMAN	melanoma antigen family A, 6	174	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.							p.H174H(1)		breast(1)|endometrium(3)|large_intestine(3)|lung(16)|prostate(3)|skin(1)|urinary_tract(1)	28	Acute lymphoblastic leukemia(192;6.56e-05)					CCATCGGCCACGTGTACATCT	0.532																																						ENST00000329342.5																			1	Substitution - coding silent(1)	p.H174H(1)	prostate(1)	breast(1)|endometrium(3)|large_intestine(3)|lung(16)|prostate(3)|skin(1)|urinary_tract(1)	28						c.(520-522)caC>caT		melanoma antigen family A, 6							126	113	118					X																	151869832		2203	4299	6502	SO:0001819	synonymous_variant	4105						protein binding	g.chrX:151869832C>T		CCDS76050.1	Xq28	2009-03-13			ENSG00000197172	ENSG00000197172			6804	protein-coding gene	gene with protein product	"MAGE-6 antigen", "melanoma-associated antigen 6", "melanoma antigen family A 6", "cancer/testis antigen family 1, member 6"	300176		MAGE6		8575766	Standard	NM_005363		Approved	CT1.6	uc004ffq.1	P43360	OTTHUMG00000022642	ENST00000329342.5:c.522C>T	X.37:g.151869832C>T							p.H174H	NM_005363.2	NP_005354.1	P43360	MAGA6_HUMAN			3	747	+	Acute lymphoblastic leukemia(192;6.56e-05)		174			MAGE.		A8IF93|Q6NW44	Silent	SNP	ENST00000329342.5	37	c.522C>T	CCDS14708.1																																																																																				0.532	MAGEA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058747.2	NM_005363		13	143	0	0	0	0.411799	0	13	143					T	151869832	C	T	151869832	2	4	13	1	0	0	0	0	0	0	0	1	9170	535	19	1		1	MAGEA6	23	151869832	Silent	SNP	C	TCGA-CH-5738-01A-11D-1576-08	48546	151869832	3400728	41	545											
HNRNPR	10236	broad.mit.edu	37	chr1	23650124	23650124	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctctattctgaccggacagTggatccatcataagacgtag	11	10	9	11	2	3	2	1	1	2	1	4	4	4	4	3	2	0	1	3	2	3	4			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr1:23650124T>C	ENST00000374612.1	-	6	723	c.600A>G	c.(598-600)ccA>ccG	p.P200P	HNRNPR_ENST00000427764.2_Silent_p.P162P|HNRNPR_ENST00000302271.6_Silent_p.P200P|HNRNPR_ENST00000374616.3_Silent_p.P200P|HNRNPR_ENST00000606561.1_Silent_p.P61P|HNRNPR_ENST00000478691.1_Silent_p.P99P|HNRNPR_ENST00000426846.2_Intron	NM_001102398.1|NM_005826.3	NP_001095868.1|NP_005817.1	O43390	HNRPR_HUMAN	heterogeneous nuclear ribonucleoprotein R	200	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.P200P(2)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00394)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;6.83e-27)|Colorectal(126;6.01e-08)|COAD - Colon adenocarcinoma(152;3.32e-06)|GBM - Glioblastoma multiforme(114;6.69e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|KIRC - Kidney renal clear cell carcinoma(1967;0.00357)|STAD - Stomach adenocarcinoma(196;0.0131)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0875)|LUSC - Lung squamous cell carcinoma(448;0.19)		GACCGGACAGTGGATCCATCA	0.443																																						ENST00000478691.1																			2	Substitution - coding silent(2)	p.P200P(2)	prostate(2)	endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(295-297)ccA>ccG		heterogeneous nuclear ribonucleoprotein R							114	115	114					1																	23650124		2203	4300	6503	SO:0001819	synonymous_variant	10236					catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|RNA binding	g.chr1:23650124T>C	AF000364	CCDS232.1, CCDS44085.1, CCDS60020.1, CCDS72726.1, CCDS72727.1	1p36.12	2013-02-12		2007-08-16	ENSG00000125944	ENSG00000125944		"RNA binding motif (RRM) containing"	5047	protein-coding gene	gene with protein product		607201		HNRPR		9421497	Standard	XM_005245711		Approved	hnRNP-R	uc001bgp.4	O43390	OTTHUMG00000003224	ENST00000374612.1:c.600A>G	1.37:g.23650124T>C						HNRNPR_ENST00000302271.6_Silent_p.P200P|HNRNPR_ENST00000374616.3_Silent_p.P200P|HNRNPR_ENST00000606561.1_Silent_p.P61P|HNRNPR_ENST00000374612.1_Silent_p.P200P|HNRNPR_ENST00000427764.2_Silent_p.P162P|HNRNPR_ENST00000426846.2_Intron	p.P99P	NM_001102397.1|NM_001102399.1	NP_001095867.1|NP_001095869.1	O43390	HNRPR_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;6.83e-27)|Colorectal(126;6.01e-08)|COAD - Colon adenocarcinoma(152;3.32e-06)|GBM - Glioblastoma multiforme(114;6.69e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|KIRC - Kidney renal clear cell carcinoma(1967;0.00357)|STAD - Stomach adenocarcinoma(196;0.0131)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0875)|LUSC - Lung squamous cell carcinoma(448;0.19)	5	568	-		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00394)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)	200			Asp/Glu-rich (acidic).		Q2L7G6|Q5TEH1|Q9BV64|S4R3J4	Silent	SNP	ENST00000374612.1	37	c.297A>G	CCDS232.1																																																																																				0.443	HNRNPR-003	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000008889.1	NM_005826		10	197	0	0	0	0.000442599	0	10	197					C	23650124	T	C	23650124	2	2	14	1	0	0	0	0	0	0	0	1	7272	1683	59	4		4	HNRNPR	1	23650124	Silent	SNP	T	TCGA-CH-5739-01A-11D-1576-08		23650124	225600497	1	546											
RPE65	6121	broad.mit.edu	37	chr1	68906685	68906685	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	catagttgcaaagatcaaccTacggaagtaaagtgaatgtc	16	9	9	7	1	1	2	1	1	0	1	2	3	1	3	1	1	3	3	1	1	8	4			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr1:68906685T>C	ENST00000262340.5	-	6	549		c.e6-2			NM_000329.2	NP_000320.1	Q16518	RPE65_HUMAN	retinal pigment epithelium-specific protein 65kDa						cellular response to electrical stimulus (GO:0071257)|detection of light stimulus involved in visual perception (GO:0050908)|insulin receptor signaling pathway (GO:0008286)|phototransduction, visible light (GO:0007603)|regulation of rhodopsin gene expression (GO:0007468)|retina homeostasis (GO:0001895)|retina morphogenesis in camera-type eye (GO:0060042)|retinal metabolic process (GO:0042574)|retinoid metabolic process (GO:0001523)|visual perception (GO:0007601)|vitamin A metabolic process (GO:0006776)	endoplasmic reticulum (GO:0005783)|plasma membrane (GO:0005886)	all-trans-retinyl-ester hydrolase, 11-cis retinol forming activity (GO:0052885)|all-trans-retinyl-palmitate hydrolase, 11-cis retinol forming activity (GO:0052884)|metal ion binding (GO:0046872)|retinal isomerase activity (GO:0004744)	p.?(1)		central_nervous_system(1)|kidney(3)|large_intestine(12)|lung(15)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	35						AAGATCAACCTACGGAAGTAA	0.428																																						ENST00000262340.5																			1	Unknown(1)	p.?(1)	prostate(1)	central_nervous_system(1)|kidney(3)|large_intestine(12)|lung(15)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	35						c.e6-2		retinal pigment epithelium-specific protein 65kDa							61	62	61					1																	68906685		2203	4300	6503	SO:0001630	splice_region_variant	6121				visual perception	cytoplasm|plasma membrane	all-trans-retinyl-palmitate hydrolase activity|metal ion binding|retinol isomerase activity	g.chr1:68906685T>C	U18991	CCDS643.1	1p31	2014-05-13	2002-08-29		ENSG00000116745	ENSG00000116745	3.1.1.64		10294	protein-coding gene	gene with protein product	"retinol isomerase", "all-trans-retinyl-palmitate hydrolase", "retinoid isomerohydrolase", "BCO family, member 3"	180069	"retinal pigment epithelium-specific protein (65kD)"	RP20		8340400	Standard	XM_006710811		Approved	LCA2, rd12, BCO3	uc001dei.1	Q16518	OTTHUMG00000009208	ENST00000262340.5:c.496-2A>G	1.37:g.68906685T>C								NM_000329.2	NP_000320.1	Q16518	RPE65_HUMAN			6	549	-								A8K1L0|Q5T9U3	Splice_Site	SNP	ENST00000262340.5	37		CCDS643.1	.	.	.	.	.	.	.	.	.	.	T	13.20	2.166603	0.38217	.	.	ENSG00000116745	ENST00000262340	.	.	.	5.54	5.54	0.83059	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.6694	0.77262	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	RPE65	68679273	1.000000	0.71417	0.971000	0.41717	0.222000	0.24845	7.475000	0.81041	2.107000	0.64212	0.477000	0.44152	.		0.428	RPE65-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025509.1	NM_000329	Intron	4	79	0	0	0	0.00024832	0	4	79					C	68906685	T	C	68906685	5	2	14	1	0	0	0	0	0	0	1	0	13545	1536	53	4	1143	4	RPE65	1	68906685	Splice_Site	SNP	T	TCGA-CH-5739-01A-11D-1576-08	45256561	68906685	180343936	2	547											
ABCA4	24	broad.mit.edu	37	chr1	94514475	94514475	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cgtttcctctgttaggggctCggtcttttccagggctcttt	2	17	11	11	2	3	0	0	0	3	0	6	0	5	0	2	4	0	4	2	4	1	5	rs61749441	byFrequency	TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr1:94514475C>T	ENST00000370225.3	-	18	2778	c.2692G>A	c.(2692-2694)Gag>Aag	p.E898K	ABCA4_ENST00000535735.1_Missense_Mutation_p.E824K	NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	898					phospholipid transfer to membrane (GO:0006649)|photoreceptor cell maintenance (GO:0045494)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|photoreceptor disc membrane (GO:0097381)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|phospholipid-translocating ATPase activity (GO:0004012)|transporter activity (GO:0005215)	p.E898K(1)		NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		GTTAGGGGCTCGGTCTTTTCC	0.517													C|||	2	0.000399361	0	0	5008	,	,		17850	0		0.002	False		,,,				2504	0					ENST00000370225.3																			1	Substitution - Missense(1)	p.E898K(1)	prostate(1)	NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147	GRCh37	CM012875	ABCA4	M	rs61749441	c.(2692-2694)Gag>Aag		ATP-binding cassette, sub-family A (ABC1), member 4		C	LYS/GLU	1,4405	2.1+/-5.4	0,1,2202	165	148	154	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	2692	5.3	0.8	1	dbSNP_129	154	2,8598	2.2+/-6.3	0,2,4298	yes	missense	ABCA4	NM_000350.2	56	0,3,6500	TT,TC,CC		0.0233,0.0227,0.0231	benign	898/2274	94514475	3,13003	2203	4300	6503	SO:0001583	missense	24				phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr1:94514475C>T	U88667	CCDS747.1	1p22	2013-01-23			ENSG00000198691	ENSG00000198691		"ATP binding cassette transporters / subfamily A"	34	protein-coding gene	gene with protein product	"Stargardt disease"	601691	"ATP-binding cassette transporter, retinal-specific"	STGD1, ABCR, RP19, STGD		9490294	Standard	NM_000350		Approved	FFM, ARMD2, CORD3	uc001dqh.3	P78363	OTTHUMG00000010622	ENST00000370225.3:c.2692G>A	1.37:g.94514475C>T	ENSP00000359245:p.Glu898Lys					ABCA4_ENST00000535735.1_Missense_Mutation_p.E824K	p.E898K	NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)	18	2778	-		all_lung(203;0.000757)|Lung NSC(277;0.00335)	898					O15112|O60438|O60915|Q0QD48|Q4LE31	Missense_Mutation	SNP	ENST00000370225.3	37	c.2692G>A	CCDS747.1	2	9.157509157509158E-4	0	0.0	0	0.0	0	0.0	2	0.002638522427440633	C	11.12	1.544018	0.27563	2.27E-4	2.33E-4	ENSG00000198691	ENST00000370225;ENST00000535735	D;D	0.91407	-2.79;-2.84	5.35	5.35	0.76521	.	1.680890	0.02684	N	0.109977	D	0.91250	0.7242	L	0.46157	1.445	0.31607	N	0.651949	D;B	0.76494	0.999;0.074	D;B	0.76575	0.988;0.018	T	0.80743	-0.1246	10	0.11794	T	0.64	.	14.9185	0.70815	0.0:1.0:0.0:0.0	rs61749441	824;898	F5H6E5;P78363	.;ABCA4_HUMAN	K	898;824	ENSP00000359245:E898K;ENSP00000437682:E824K	ENSP00000359245:E898K	E	-	1	0	ABCA4	94287063	0.879000	0.30193	0.775000	0.31657	0.604000	0.37047	3.717000	0.54911	2.642000	0.89623	0.655000	0.94253	GAG		0.517	ABCA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029320.1	NM_000350		14	171	0	0	0	7.07596e-05	0	14	171					T	94514475	C	T	94514475	3	4	14	1	0	0	0	0	1	0	0	0	34	893	31	2	4261	2	ABCA4	1	94514475	Missense_Mutation	SNP	C	TCGA-CH-5739-01A-11D-1576-08	25607790	94514475	154736146	3	548											
SLC16A4	9122	broad.mit.edu	37	chr1	110925493	110925493	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	gatgacatgatggatccaatCcaaccaatttgctctgaggt	12	11	9	9	0	1	3	0	3	1	0	3	5	3	4	3	2	2	1	3	2	3	1			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr1:110925493C>G	ENST00000369779.4	-	3	432	c.183G>C	c.(181-183)tgG>tgC	p.W61C	SLC16A4_ENST00000497687.1_Intron|SLC16A4_ENST00000437429.2_Intron|LAMTOR5-AS1_ENST00000590413.1_RNA|SLC16A4_ENST00000541986.1_Intron|SLC16A4_ENST00000472422.2_Missense_Mutation_p.W61C|SLC16A4_ENST00000369781.4_Missense_Mutation_p.W61C	NM_001201547.1|NM_004696.2	NP_001188476.1|NP_004687.1	O15374	MOT5_HUMAN	solute carrier family 16, member 4	61					monocarboxylic acid transport (GO:0015718)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	monocarboxylic acid transmembrane transporter activity (GO:0008028)|symporter activity (GO:0015293)	p.W61C(1)		breast(1)|endometrium(1)|kidney(4)|large_intestine(2)|lung(2)|ovary(3)|prostate(1)|stomach(2)	16		all_cancers(81;0.000476)|all_epithelial(167;0.000401)|all_lung(203;0.00277)|Lung NSC(277;0.0043)		Lung(183;0.0251)|all cancers(265;0.0766)|Epithelial(280;0.0807)|Colorectal(144;0.112)|LUSC - Lung squamous cell carcinoma(189;0.14)	Pyruvic acid(DB00119)	TGGATCCAATCCAACCAATTT	0.408																																						ENST00000369779.4																			1	Substitution - Missense(1)	p.W61C(1)	prostate(1)	breast(1)|endometrium(1)|kidney(4)|large_intestine(2)|lung(2)|ovary(3)|prostate(1)|stomach(2)	16						c.(181-183)tgG>tgC		solute carrier family 16, member 4	Pyruvic acid(DB00119)						136	128	131					1																	110925493		2203	4300	6503	SO:0001583	missense	9122					integral to plasma membrane|membrane fraction	monocarboxylic acid transmembrane transporter activity|symporter activity	g.chr1:110925493C>G	U59185	CCDS823.1, CCDS55621.1, CCDS55622.1, CCDS55623.1, CCDS55624.1	1p13.3	2013-07-18	2013-07-18		ENSG00000168679	ENSG00000168679		"Solute carriers"	10925	protein-coding gene	gene with protein product		603878	"solute carrier family 16 (monocarboxylic acid transporters), member 4", "solute carrier family 16, member 4 (monocarboxylic acid transporter 5)"			9425115	Standard	NM_004696		Approved	MCT4, MCT5	uc001dzo.2	O15374	OTTHUMG00000011285	ENST00000369779.4:c.183G>C	1.37:g.110925493C>G	ENSP00000358794:p.Trp61Cys					SLC16A4_ENST00000437429.2_Intron|LAMTOR5-AS1_ENST00000590413.1_RNA|SLC16A4_ENST00000497687.1_Intron|SLC16A4_ENST00000472422.2_Missense_Mutation_p.W61C|SLC16A4_ENST00000369781.4_Missense_Mutation_p.W61C|SLC16A4_ENST00000541986.1_Intron	p.W61C	NM_001201547.1|NM_004696.2	NP_001188476.1|NP_004687.1	O15374	MOT5_HUMAN		Lung(183;0.0251)|all cancers(265;0.0766)|Epithelial(280;0.0807)|Colorectal(144;0.112)|LUSC - Lung squamous cell carcinoma(189;0.14)	3	432	-		all_cancers(81;0.000476)|all_epithelial(167;0.000401)|all_lung(203;0.00277)|Lung NSC(277;0.0043)	61					A8K3V5|B2R9C9|B4DJ67|B4DPX7|E7EPY8|G3V175|Q5T612|Q8WU09	Missense_Mutation	SNP	ENST00000369779.4	37	c.183G>C	CCDS823.1	.	.	.	.	.	.	.	.	.	.	C	18.32	3.597102	0.66332	.	.	ENSG00000168679	ENST00000369779;ENST00000472422;ENST00000369781	T;D;T	0.82081	0.02;-1.57;0.02	4.55	3.61	0.41365	Major facilitator superfamily domain, general substrate transporter (1);	0.262068	0.41396	D	0.000887	D	0.88687	0.6504	M	0.84156	2.68	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;0.999;1.0	D	0.90179	0.4241	10	0.72032	D	0.01	.	12.4566	0.55708	0.1676:0.8324:0.0:0.0	.	61;61;61	G3V175;Q8WU09;O15374	.;.;MOT5_HUMAN	C	61	ENSP00000358794:W61C;ENSP00000432495:W61C;ENSP00000358796:W61C	ENSP00000358794:W61C	W	-	3	0	SLC16A4	110727016	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.453000	0.66645	1.221000	0.43506	0.655000	0.94253	TGG		0.408	SLC16A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000031115.3	NM_004696		62	156	0	0	0	0.000147903	0	62	156					G	110925493	C	G	110925493	3	3	14	1	0	0	0	0	1	0	0	0	14410	856	30	5	1308	5	SLC16A4	1	110925493	Missense_Mutation	SNP	C	TCGA-CH-5739-01A-11D-1576-08	16411018	110925493	138325128	4	549											
PTGFRN	5738	broad.mit.edu	37	chr1	117529548	117529548	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaaggaggttcaggagacaCggcgcgagcgccgcaggctc	10	3	17	11	5	1	2	1	0	0	2	2	5	1	3	1	5	1	3	1	5	1	1	rs140355100|rs34483540		TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr1:117529548C>T	ENST00000393203.2	+	9	2746	c.2599C>T	c.(2599-2601)Cgg>Tgg	p.R867W		NM_020440.2	NP_065173.2	Q9P2B2	FPRP_HUMAN	prostaglandin F2 receptor inhibitor	867					lipid particle organization (GO:0034389)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)		p.R867W(1)		NS(1)|breast(1)|endometrium(4)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)	46	Lung SC(450;0.225)	all_cancers(81;0.00104)|all_lung(203;8.97e-05)|all_epithelial(167;0.000139)|Lung NSC(69;0.000446)		Lung(183;0.0704)|LUSC - Lung squamous cell carcinoma(189;0.227)|Colorectal(144;0.248)		TCAGGAGACACGGCGCGAGCG	0.617																																						ENST00000393203.2																			1	Substitution - Missense(1)	p.R867W(1)	prostate(1)	NS(1)|breast(1)|endometrium(4)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)	46						c.(2599-2601)Cgg>Tgg		prostaglandin F2 receptor inhibitor							102	101	101					1																	117529548		2203	4300	6503	SO:0001583	missense	5738					endoplasmic reticulum membrane|Golgi apparatus|integral to membrane	protein binding	g.chr1:117529548C>T	AB014734	CCDS890.1	1p13.1	2013-01-29	2013-01-25		ENSG00000134247	ENSG00000134247		"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	9601	protein-coding gene	gene with protein product		601204	"prostaglandin F2 receptor negative regulator"			8655148	Standard	NM_020440		Approved	FPRP, EWI-F, CD9P-1, FLJ11001, KIAA1436, SMAP-6, CD315	uc001egv.1	Q9P2B2	OTTHUMG00000012028	ENST00000393203.2:c.2599C>T	1.37:g.117529548C>T	ENSP00000376899:p.Arg867Trp						p.R867W	NM_020440.2	NP_065173.2	Q9P2B2	FPRP_HUMAN		Lung(183;0.0704)|LUSC - Lung squamous cell carcinoma(189;0.227)|Colorectal(144;0.248)	9	2746	+	Lung SC(450;0.225)	all_cancers(81;0.00104)|all_lung(203;8.97e-05)|all_epithelial(167;0.000139)|Lung NSC(69;0.000446)	867					Q5VVU9|Q8N2K6	Missense_Mutation	SNP	ENST00000393203.2	37	c.2599C>T	CCDS890.1	.	.	.	.	.	.	.	.	.	.	C	16.04	3.011030	0.54361	.	.	ENSG00000134247	ENST00000393203;ENST00000544471	T	0.32988	1.43	6.16	-3.92	0.04155	.	0.064020	0.64402	D	0.000012	T	0.39332	0.1074	L	0.51422	1.61	0.30394	N	0.780742	D	0.89917	1.0	D	0.87578	0.998	T	0.60271	-0.7296	10	0.87932	D	0	-35.0866	25.0221	0.99992	0.1362:0.8638:0.0:0.0	.	867	Q9P2B2	FPRP_HUMAN	W	867;726	ENSP00000376899:R867W	ENSP00000376899:R867W	R	+	1	2	PTGFRN	117331071	0.001000	0.12720	0.195000	0.23364	0.988000	0.76386	-0.294000	0.08309	-0.534000	0.06315	-0.275000	0.10095	CGG		0.617	PTGFRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033271.1	NM_020440		56	108	0	0	0	0.000147903	0	56	108					T	117529548	C	T	117529548	3	4	14	1	0	0	0	0	1	0	0	0	12750	527	19	1	2633	1	PTGFRN	1	117529548	Missense_Mutation	SNP	C	TCGA-CH-5739-01A-11D-1576-08	6604055	117529548	131721073	5	550											
GJA5	2702	broad.mit.edu	37	chr1	147230995	147230995	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctcgtaagagccagagccccGgacctctttggccctctcgg	6	8	11	16	3	2	2	0	0	2	2	4	3	2	3	5	3	2	1	5	3	1	2			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr1:147230995G>A	ENST00000271348.2	-	2	513	c.352C>T	c.(352-354)Cgg>Tgg	p.R118W	GJA5_ENST00000369237.1_Missense_Mutation_p.R118W|RP11-433J22.2_ENST00000428911.1_RNA	NM_005266.5	NP_005257.2	P36382	CXA5_HUMAN	gap junction protein, alpha 5, 40kDa	118					angiogenesis (GO:0001525)|artery morphogenesis (GO:0048844)|atrial cardiac muscle cell action potential (GO:0086014)|atrial septum development (GO:0003283)|AV node cell to bundle of His cell communication by electrical coupling (GO:0086053)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|gap junction assembly (GO:0016264)|mitral valve development (GO:0003174)|outflow tract morphogenesis (GO:0003151)|pulmonary valve formation (GO:0003193)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of cardiac muscle contraction (GO:0055117)|transmembrane transport (GO:0055085)|ventricular septum development (GO:0003281)	connexon complex (GO:0005922)|gap junction (GO:0005921)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)	gap junction channel activity involved in AV node cell-bundle of His cell electrical coupling (GO:0086077)|gap junction channel activity involved in cardiac conduction electrical coupling (GO:0086075)|gap junction hemi-channel activity (GO:0055077)	p.R118W(1)		breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	20	all_hematologic(923;0.0276)		LUSC - Lung squamous cell carcinoma(543;0.202)			CCAGAGCCCCGGACCTCTTTG	0.622																																						ENST00000271348.2																			1	Substitution - Missense(1)	p.R118W(1)	prostate(1)	breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	20						c.(352-354)Cgg>Tgg		gap junction protein, alpha 5, 40kDa							67	67	67					1																	147230995		2203	4300	6503	SO:0001583	missense	2702				angiogenesis|cell-cell junction assembly|muscle contraction	integral to membrane		g.chr1:147230995G>A		CCDS929.1	1q21.1	2008-02-05	2007-01-16		ENSG00000143140	ENSG00000265107		"Ion channels / Gap junction proteins (connexins)"	4279	protein-coding gene	gene with protein product	"connexin 40"	121013	"gap junction protein, alpha 5, 40kD (connexin 40)", "gap junction protein, alpha 5, 40kDa (connexin 40)"				Standard	NM_005266		Approved	CX40	uc001eps.1	P36382	OTTHUMG00000014020	ENST00000271348.2:c.352C>T	1.37:g.147230995G>A	ENSP00000271348:p.Arg118Trp					GJA5_ENST00000369237.1_Missense_Mutation_p.R118W	p.R118W	NM_005266.5|NM_181703.2	NP_005257.2|NP_859054.1	P36382	CXA5_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.202)		2	513	-	all_hematologic(923;0.0276)		118					Q5T3B6|Q5U0N6	Missense_Mutation	SNP	ENST00000271348.2	37	c.352C>T	CCDS929.1	.	.	.	.	.	.	.	.	.	.	G	9.323	1.058560	0.19987	.	.	ENSG00000143140	ENST00000271348;ENST00000369237;ENST00000430508	D;D;D	0.97752	-4.48;-4.48;-4.52	5.01	-1.01	0.10169	.	1.697480	0.02990	N	0.146749	D	0.92980	0.7766	L	0.36672	1.1	0.09310	N	1	D	0.62365	0.991	P	0.44860	0.462	D	0.88575	0.3132	10	0.66056	D	0.02	.	10.555	0.45112	0.0:0.2584:0.4905:0.2511	.	118	P36382	CXA5_HUMAN	W	118	ENSP00000271348:R118W;ENSP00000358240:R118W;ENSP00000407645:R118W	ENSP00000271348:R118W	R	-	1	2	GJA5	145697619	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.429000	0.21412	-0.002000	0.14469	-0.257000	0.10917	CGG		0.622	GJA5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039422.2	NM_181703		53	149	0	0	0	0.000147903	0	53	149					A	147230995	G	A	147230995	3	1	14	1	0	0	0	0	1	0	0	0	6404	1115	39	2	728	2	GJA5	1	147230995	Missense_Mutation	SNP	G	TCGA-CH-5739-01A-11D-1576-08	29701447	147230995	102019626	6	551											
CRNN	49860	broad.mit.edu	37	chr1	152382359	152382359	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagtctgggcctgtcctcccGgtactgtctctcctgcctca	3	12	9	17	1	3	0	1	0	2	0	7	0	6	0	5	2	2	1	5	2	1	1	rs200128647		TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr1:152382359G>A	ENST00000271835.3	-	3	1261	c.1199C>T	c.(1198-1200)cCg>cTg	p.P400L	RP1-91G5.3_ENST00000411804.1_RNA	NM_016190.2	NP_057274.1	Q9UBG3	CRNN_HUMAN	cornulin	400					response to heat (GO:0009408)|single organismal cell-cell adhesion (GO:0016337)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	calcium ion binding (GO:0005509)	p.P400L(1)		breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTGTCCTCCCGGTACTGTCTC	0.612													G|||	1	0.000199681	0	0.0014	5008	,	,		23894	0		0	False		,,,				2504	0					ENST00000271835.3																			1	Substitution - Missense(1)	p.P400L(1)	prostate(1)	breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35						c.(1198-1200)cCg>cTg		cornulin							96	80	85					1																	152382359		2203	4300	6503	SO:0001583	missense	49860				cell-cell adhesion|response to heat	cytoplasm|membrane	calcium ion binding	g.chr1:152382359G>A	AF077831	CCDS1010.1	1q21	2014-01-28	2005-06-13	2005-06-13	ENSG00000143536	ENSG00000143536		"EF-hand domain containing"	1230	protein-coding gene	gene with protein product		611312	"chromosome 1 open reading frame 10"	C1orf10		11056050, 15854041	Standard	NM_016190		Approved	SEP53	uc001ezx.2	Q9UBG3	OTTHUMG00000012383	ENST00000271835.3:c.1199C>T	1.37:g.152382359G>A	ENSP00000271835:p.Pro400Leu					RP1-91G5.3_ENST00000411804.1_RNA	p.P400L	NM_016190.2	NP_057274.1	Q9UBG3	CRNN_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	1261	-	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		400					B2RE60|Q8N613	Missense_Mutation	SNP	ENST00000271835.3	37	c.1199C>T	CCDS1010.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	G	3.586	-0.084551	0.07097	.	.	ENSG00000143536	ENST00000271835	T	0.03745	3.82	5.01	-10.0	0.00425	.	1.727610	0.03049	N	0.154336	T	0.00300	0.0009	N	0.01242	-0.935	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.39603	-0.9606	10	0.02654	T	1	.	9.1807	0.37141	0.1601:0.0:0.5346:0.3053	.	400	Q9UBG3	CRNN_HUMAN	L	400	ENSP00000271835:P400L	ENSP00000271835:P400L	P	-	2	0	CRNN	150648983	0.000000	0.05858	0.000000	0.03702	0.055000	0.15305	-0.802000	0.04545	-3.270000	0.00200	-1.627000	0.00785	CCG		0.612	CRNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034503.1	NM_016190		50	105	0	0	0	0.000147903	0	50	105					A	152382359	G	A	152382359	3	1	14	1	0	0	0	0	1	0	0	0	3892	1116	39	2	292	2	CRNN	1	152382359	Missense_Mutation	SNP	G	TCGA-CH-5739-01A-11D-1576-08	5151364	152382359	96868262	7	552											
LCE1C	353133	broad.mit.edu	37	chr1	152777624	152777624	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagcctccagagtgctggcCactccccccgccacagcagc	7	4	10	20	1	0	1	0	0	0	1	2	1	2	1	7	1	4	3	7	1	0	0			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr1:152777624C>T	ENST00000607093.1	-	1	330	c.331G>A	c.(331-333)Ggc>Agc	p.G111S	LCE1C_ENST00000368768.1_Missense_Mutation_p.G111S			Q5T751	LCE1C_HUMAN	late cornified envelope 1C	111	Gly-rich.				keratinization (GO:0031424)			p.G111S(1)		NS(1)|lung(4)|prostate(1)|skin(2)|urinary_tract(1)	9	Lung NSC(65;9.06e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			GAGTGCTGGCCACTCCCCCCG	0.657																																						ENST00000368768.1																			1	Substitution - Missense(1)	p.G111S(1)	prostate(1)	NS(1)|lung(4)|prostate(1)|skin(2)|urinary_tract(1)	9						c.(331-333)Ggc>Agc		late cornified envelope 1C							34	40	38					1																	152777624		2190	4291	6481	SO:0001583	missense	353133				keratinization			g.chr1:152777624C>T		CCDS1026.1	1q21.3	2008-02-05			ENSG00000197084	ENSG00000197084		"Late cornified envelopes"	29464	protein-coding gene	gene with protein product		612605				11698679	Standard	NM_001276331		Approved	LEP3	uc001fap.1	Q5T751	OTTHUMG00000012445	ENST00000607093.1:c.331G>A	1.37:g.152777624C>T	ENSP00000475270:p.Gly111Ser					LCE1C_ENST00000607093.1_Missense_Mutation_p.G111S	p.G111S	NM_178351.3	NP_848128.1	Q5T751	LCE1C_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		2	381	-	Lung NSC(65;9.06e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		111			Gly-rich.			Missense_Mutation	SNP	ENST00000607093.1	37	c.331G>A	CCDS1026.1	.	.	.	.	.	.	.	.	.	.	C	0.712	-0.786716	0.02907	.	.	ENSG00000197084	ENST00000368768	T	0.05081	3.5	2.82	-5.64	0.02466	.	1.541000	0.04274	N	0.342653	T	0.02418	0.0074	L	0.51422	1.61	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.41288	-0.9517	10	0.87932	D	0	.	12.4185	0.55508	0.0:0.772:0.0:0.228	.	111	Q5T751	LCE1C_HUMAN	S	111	ENSP00000357757:G111S	ENSP00000357757:G111S	G	-	1	0	LCE1C	151044248	0.000000	0.05858	0.000000	0.03702	0.049000	0.14656	-2.057000	0.01395	-1.710000	0.01397	-0.793000	0.03317	GGC		0.657	LCE1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034658.2	NM_178351		14	39	0	0	0	0.000132079	0	14	39					T	152777624	C	T	152777624	3	4	14	1	0	0	0	0	1	0	0	0	8661	594	21	3	29	3	LCE1C	1	152777624	Missense_Mutation	SNP	C	TCGA-CH-5739-01A-11D-1576-08	395265	152777624	96472997	8	553											
LCE1A	353131	broad.mit.edu	37	chr1	152800255	152800255	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gctgctgtggaggggacagcGgccagcactctggaggctgc	6	6	18	11	1	1	0	0	0	1	0	1	3	1	3	1	6	4	4	1	6	0	0			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr1:152800255G>A	ENST00000335123.2	+	1	307	c.307G>A	c.(307-309)Ggc>Agc	p.G103S		NM_178348.2	NP_848125.1	Q5T7P2	LCE1A_HUMAN	late cornified envelope 1A	103	Cys-rich.				keratinization (GO:0031424)			p.G103S(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)|skin(1)	8	Lung NSC(65;9.06e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			AGGGGACAGCGGCCAGCACTC	0.622																																						ENST00000335123.2																			1	Substitution - Missense(1)	p.G103S(1)	prostate(1)	endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)|skin(1)	8						c.(307-309)Ggc>Agc		late cornified envelope 1A							16	19	18					1																	152800255		2190	4273	6463	SO:0001583	missense	353131				keratinization			g.chr1:152800255G>A		CCDS1028.1	1q21.3	2011-01-28			ENSG00000186844	ENSG00000186844		"Late cornified envelopes"	29459	protein-coding gene	gene with protein product		612603				11698679	Standard	NM_178348		Approved	LEP1	uc010pdw.2	Q5T7P2	OTTHUMG00000012447	ENST00000335123.2:c.307G>A	1.37:g.152800255G>A	ENSP00000334869:p.Gly103Ser						p.G103S	NM_178348.2	NP_848125.1	Q5T7P2	LCE1A_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		1	307	+	Lung NSC(65;9.06e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		103			Cys-rich.			Missense_Mutation	SNP	ENST00000335123.2	37	c.307G>A	CCDS1028.1	.	.	.	.	.	.	.	.	.	.	g	2.780	-0.253790	0.05829	.	.	ENSG00000186844	ENST00000368766;ENST00000335123	T;T	0.05081	3.5;3.5	4.3	-8.61	0.00885	.	1.380920	0.05331	N	0.528276	T	0.02267	0.0070	L	0.57536	1.79	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.43605	-0.9381	10	0.87932	D	0	.	10.546	0.45060	0.7437:0.0:0.1464:0.1099	.	103	Q5T7P2	LCE1A_HUMAN	S	103	ENSP00000357755:G103S;ENSP00000334869:G103S	ENSP00000334869:G103S	G	+	1	0	LCE1A	151066879	0.000000	0.05858	0.000000	0.03702	0.074000	0.17049	-1.920000	0.01571	-1.867000	0.01144	-1.309000	0.01313	GGC		0.622	LCE1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034660.2	NM_178348		4	14	0	0	0	0.000442599	0	4	14					A	152800255	G	A	152800255	3	1	14	1	0	0	0	0	1	0	0	0	8659	1116	39	2	309	2	LCE1A	1	152800255	Missense_Mutation	SNP	G	TCGA-CH-5739-01A-11D-1576-08	22631	152800255	96450366	9	554											
TPR	7175	broad.mit.edu	37	chr1	186289546	186289546	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agggacaccagcaacctgcgGcgaactaaatggacaaaaac	17	3	10	11	2	0	0	0	0	0	0	0	3	0	2	2	3	5	1	2	3	6	1			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr1:186289546G>A	ENST00000367478.4	-	46	6762	c.6466C>T	c.(6466-6468)Ccg>Tcg	p.P2156S		NM_003292.2	NP_003283.2	P12270	TPR_HUMAN	translocated promoter region, nuclear basket protein	2156					carbohydrate metabolic process (GO:0005975)|cellular response to heat (GO:0034605)|cellular response to interferon-alpha (GO:0035457)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|MAPK import into nucleus (GO:0000189)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope disassembly (GO:0007077)|mitotic spindle assembly checkpoint (GO:0007094)|mRNA export from nucleus in response to heat stress (GO:0031990)|negative regulation of RNA export from nucleus (GO:0046832)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of translational initiation (GO:0045947)|nuclear pore organization (GO:0006999)|positive regulation of heterochromatin assembly (GO:0031453)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090267)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of protein import into nucleus (GO:0042307)|protein import into nucleus (GO:0006606)|regulation of glucose transport (GO:0010827)|regulation of mitotic sister chromatid separation (GO:0010965)|regulation of spindle assembly involved in mitosis (GO:1901673)|response to epidermal growth factor (GO:0070849)|RNA export from nucleus (GO:0006405)|RNA import into nucleus (GO:0006404)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoplasmic dynein complex (GO:0005868)|extrinsic component of membrane (GO:0019898)|kinetochore (GO:0000776)|mitotic spindle (GO:0072686)|nuclear envelope (GO:0005635)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|dynein complex binding (GO:0070840)|heat shock protein binding (GO:0031072)|mitogen-activated protein kinase binding (GO:0051019)|mRNA binding (GO:0003729)|nucleocytoplasmic transporter activity (GO:0005487)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|tubulin binding (GO:0015631)	p.P2156S(2)|p.P2143S(1)		autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(9)|kidney(12)|large_intestine(23)|liver(1)|lung(45)|ovary(2)|pancreas(1)|prostate(6)|skin(3)|stomach(1)|urinary_tract(8)	123		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)		GCAACCTGCGGCGAACTAAAT	0.398			T	NTRK1	papillary thyroid																																	ENST00000367478.3				Dom	yes		1	1q25	7175	T	translocated promoter region			E	NTRK1		papillary thyroid		3	Substitution - Missense(3)	p.P2156S(2)|p.P2143S(1)	prostate(3)	autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(9)|kidney(12)|large_intestine(23)|liver(1)|lung(45)|ovary(2)|pancreas(1)|prostate(6)|skin(3)|stomach(1)|urinary_tract(8)	123						c.(6466-6468)Ccg>Tcg		translocated promoter region, nuclear basket protein							63	55	57					1																	186289546		1829	4076	5905	SO:0001583	missense	7175				carbohydrate metabolic process|glucose transport|mitotic cell cycle spindle assembly checkpoint|mRNA transport|protein import into nucleus|regulation of glucose transport|seryl-tRNA aminoacylation|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytoplasm|nuclear membrane|nuclear pore|nucleoplasm	ATP binding|protein binding|serine-tRNA ligase activity	g.chr1:186289546G>A	U69668	CCDS41446.1	1q25	2012-03-13	2012-03-13		ENSG00000047410	ENSG00000047410			12017	protein-coding gene	gene with protein product		189940	"translocated promoter region (to activated MET oncogene)"			1611909, 15229283	Standard	NM_003292		Approved		uc001grv.3	P12270	OTTHUMG00000035580	ENST00000367478.4:c.6466C>T	1.37:g.186289546G>A	ENSP00000356448:p.Pro2156Ser						p.P2156S	NM_003292.2	NP_003283.2	P12270	TPR_HUMAN		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)	46	6762	-		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)	2156					Q15655|Q5SWY0|Q99968	Missense_Mutation	SNP	ENST00000367478.4	37	c.6466C>T	CCDS41446.1	.	.	.	.	.	.	.	.	.	.	G	16.34	3.095884	0.56075	.	.	ENSG00000047410	ENST00000367478	T	0.73681	-0.77	5.19	5.19	0.71726	.	0.000000	0.85682	D	0.000000	D	0.83589	0.5287	M	0.75264	2.295	0.80722	D	1	D	0.64830	0.994	P	0.56343	0.796	D	0.84963	0.0878	10	0.52906	T	0.07	.	18.7252	0.91711	0.0:0.0:1.0:0.0	.	2156	P12270	TPR_HUMAN	S	2156	ENSP00000356448:P2156S	ENSP00000356448:P2156S	P	-	1	0	TPR	184556169	1.000000	0.71417	1.000000	0.80357	0.508000	0.34012	8.950000	0.93019	2.421000	0.82119	0.563000	0.77884	CCG		0.398	TPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086353.2	NM_003292		14	63	0	0	0	0.000422831	0	14	63					A	186289546	G	A	186289546	3	1	14	1	0	0	0	0	1	0	0	0	16413	1203	42	3	649	3	TPR	1	186289546	Missense_Mutation	SNP	G	TCGA-CH-5739-01A-11D-1576-08	33489291	186289546	62961075	10	555											
LYST	1130	broad.mit.edu	37	chr1	235950607	235950607	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	catttgcttgggaggaaaatAttctcctgtgattcaacctg	10	14	9	8	0	2	1	1	1	1	0	3	3	2	3	2	2	2	1	2	2	4	5			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr1:235950607A>G	ENST00000389794.3	-	14	4929	c.4755T>C	c.(4753-4755)aaT>aaC	p.N1585N	LYST_ENST00000536965.1_3'UTR|LYST_ENST00000389793.2_Silent_p.N1585N			Q99698	LYST_HUMAN	lysosomal trafficking regulator	1585					blood coagulation (GO:0007596)|defense response to bacterium (GO:0042742)|defense response to protozoan (GO:0042832)|defense response to virus (GO:0051607)|endosome to lysosome transport via multivesicular body sorting pathway (GO:0032510)|leukocyte chemotaxis (GO:0030595)|lysosome organization (GO:0007040)|mast cell secretory granule organization (GO:0033364)|melanosome organization (GO:0032438)|microtubule-based process (GO:0007017)|natural killer cell mediated cytotoxicity (GO:0042267)|neutrophil mediated immunity (GO:0002446)|phospholipid homeostasis (GO:0055091)|phospholipid metabolic process (GO:0006644)|pigmentation (GO:0043473)|positive regulation of natural killer cell activation (GO:0032816)|response to drug (GO:0042493)|secretion of lysosomal enzymes (GO:0033299)|T cell mediated immunity (GO:0002456)	cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)				NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			GGAGGAAAATATTCTCCTGTG	0.418																																						ENST00000389794.3																			0				NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162						c.(4753-4755)aaT>aaC		lysosomal trafficking regulator							204	200	202					1																	235950607		2203	4300	6503	SO:0001819	synonymous_variant	1130				defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding	g.chr1:235950607A>G	U70064	CCDS31062.1	1q42.1-q42.2	2014-09-17	2004-12-09	2004-12-10	ENSG00000143669	ENSG00000143669		"WD repeat domain containing"	1968	protein-coding gene	gene with protein product		606897	"Chediak-Higashi syndrome 1"	CHS1		8717042, 8896560	Standard	NM_000081		Approved	CHS	uc001hxj.3	Q99698	OTTHUMG00000040527	ENST00000389794.3:c.4755T>C	1.37:g.235950607A>G						LYST_ENST00000389793.2_Silent_p.N1585N|LYST_ENST00000536965.1_3'UTR	p.N1585N			Q99698	LYST_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.000674)		14	4929	-	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	1585					O43274|Q5T2U9|Q96TD7|Q96TD8|Q99709|Q9H133	Silent	SNP	ENST00000389794.3	37	c.4755T>C	CCDS31062.1																																																																																				0.418	LYST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097533.5			7	457	0	0	0	0.000157383	0	7	457					G	235950607	A	G	235950607	2	3	14	1	0	0	0	0	0	0	0	1	9128	446	16	4		4	LYST	1	235950607	Silent	SNP	A	TCGA-CH-5739-01A-11D-1576-08	49661061	235950607	13300014	11	556											
CPSF3	51692	broad.mit.edu	37	chr2	9595849	9595849	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gccattccatatactggtccCtttaatttgctctgttacca	8	16	5	12	0	1	0	0	0	1	0	3	0	3	0	4	1	3	2	4	1	4	7			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr2:9595849C>G	ENST00000238112.3	+	13	1772	c.1566C>G	c.(1564-1566)ccC>ccG	p.P522P	CPSF3_ENST00000460593.1_Silent_p.P485P	NM_016207.3	NP_057291.1	Q9UKF6	CPSF3_HUMAN	cleavage and polyadenylation specific factor 3, 73kDa	522					gene expression (GO:0010467)|histone mRNA 3'-end processing (GO:0006398)|mRNA 3'-end processing (GO:0031124)|mRNA cleavage (GO:0006379)|mRNA export from nucleus (GO:0006406)|mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	mRNA cleavage and polyadenylation specificity factor complex (GO:0005847)|nucleoplasm (GO:0005654)|ribonucleoprotein complex (GO:0030529)	5'-3' exonuclease activity (GO:0008409)|endoribonuclease activity (GO:0004521)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)	p.P522P(1)		NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)	all_cancers(51;2.39e-25)|all_epithelial(98;8.75e-19)|Lung NSC(108;2.38e-06)|Ovarian(717;0.0308)		all cancers(51;2.2e-40)|Epithelial(75;6.71e-35)|OV - Ovarian serous cystadenocarcinoma(76;4.35e-21)|STAD - Stomach adenocarcinoma(1183;0.00644)		ATACTGGTCCCTTTAATTTGC	0.383																																					Colon(194;1259 2048 3845 5218 19985)	ENST00000460593.1																			1	Substitution - coding silent(1)	p.P522P(1)	prostate(1)	NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						c.(1453-1455)ccC>ccG		cleavage and polyadenylation specific factor 3, 73kDa							121	120	120					2																	9595849		2203	4300	6503	SO:0001819	synonymous_variant	51692				histone mRNA 3'-end processing|mRNA cleavage|mRNA export from nucleus|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage and polyadenylation specificity factor complex|ribonucleoprotein complex	5'-3' exonuclease activity|endoribonuclease activity|metal ion binding|protein binding|RNA binding	g.chr2:9595849C>G	AF171877	CCDS1664.1	2p25.1	2009-01-06	2002-08-29		ENSG00000119203	ENSG00000119203			2326	protein-coding gene	gene with protein product		606029	"cleavage and polyadenylation specific factor 3, 73kD subunit"			8929409	Standard	NM_016207		Approved	CPSF-73, CPSF73, YSH1	uc002qzo.2	Q9UKF6	OTTHUMG00000090415	ENST00000238112.3:c.1566C>G	2.37:g.9595849C>G						CPSF3_ENST00000238112.3_Silent_p.P522P	p.P485P			Q9UKF6	CPSF3_HUMAN		all cancers(51;2.2e-40)|Epithelial(75;6.71e-35)|OV - Ovarian serous cystadenocarcinoma(76;4.35e-21)|STAD - Stomach adenocarcinoma(1183;0.00644)	13	2593	+	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)	all_cancers(51;2.39e-25)|all_epithelial(98;8.75e-19)|Lung NSC(108;2.38e-06)|Ovarian(717;0.0308)	522					O14769|Q53RS2|Q96F36	Silent	SNP	ENST00000238112.3	37	c.1455C>G	CCDS1664.1																																																																																				0.383	CPSF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206843.1	NM_016207		14	121	0	0	0	0.000422831	0	14	121					G	9595849	C	G	9595849	2	3	14	1	0	0	0	0	0	0	0	1	3826	668	24	5		5	CPSF3	2	9595849	Silent	SNP	C	TCGA-CH-5739-01A-11D-1576-08		9595849	233603524	12	557											
PROKR1	10887	broad.mit.edu	37	chr2	68882252	68882252	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atctttggcatagaattcgtGggccccgtggtcaccatgac	8	11	11	11	2	2	2	1	1	1	1	3	2	2	2	3	3	0	1	3	3	2	3			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr2:68882252G>T	ENST00000303786.3	+	3	1146	c.726G>T	c.(724-726)gtG>gtT	p.V242V	PROKR1_ENST00000394342.2_Silent_p.V242V			Q8TCW9	PKR1_HUMAN	prokineticin receptor 1	242					negative regulation of apoptotic process (GO:0043066)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	neuropeptide Y receptor activity (GO:0004983)	p.V242V(1)		endometrium(3)|kidney(2)|large_intestine(14)|lung(9)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						TAGAATTCGTGGGCCCCGTGG	0.557																																						ENST00000303786.3																			1	Substitution - coding silent(1)	p.V242V(1)	prostate(1)	endometrium(3)|kidney(2)|large_intestine(14)|lung(9)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						c.(724-726)gtG>gtT		prokineticin receptor 1							99	95	97					2																	68882252		2203	4300	6503	SO:0001819	synonymous_variant	10887					integral to membrane|plasma membrane	neuropeptide Y receptor activity	g.chr2:68882252G>T	AF506287	CCDS1889.1	2p14	2012-08-08	2006-02-15	2006-02-15	ENSG00000169618	ENSG00000169618		"GPCR / Class A : Prokineticin receptors"	4524	protein-coding gene	gene with protein product		607122	"G protein-coupled receptor 73"	GPR73		10760605	Standard	NM_138964		Approved	PKR1, ZAQ, GPR73a	uc010yqj.2	Q8TCW9	OTTHUMG00000129567	ENST00000303786.3:c.726G>T	2.37:g.68882252G>T						PROKR1_ENST00000394342.2_Silent_p.V242V	p.V242V			Q8TCW9	PKR1_HUMAN			3	1146	+			242					A5JUU2|Q53QT9|Q8NFJ7	Silent	SNP	ENST00000303786.3	37	c.726G>T	CCDS1889.1																																																																																				0.557	PROKR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251760.2			32	86	1	0	9.78306e-22	0.000279167	2.19319e-20	32	86					T	68882252	G	T	68882252	2	4	14	1	0	0	0	0	0	0	0	1	12552	1335	47	5		5	PROKR1	2	68882252	Silent	SNP	G	TCGA-CH-5739-01A-11D-1576-08	59286403	68882252	174317121	13	558											
GPR17	2840	broad.mit.edu	37	chr2	128408804	128408804	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtggctgtggccatggccccGctgctggtgagcccacagac	5	7	15	14	1	0	2	0	1	0	1	0	2	0	2	4	4	2	3	4	4	0	0	rs374867696		TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr2:128408804G>A	ENST00000272644.3	+	3	653	c.579G>A	c.(577-579)ccG>ccA	p.P193P	LIMS2_ENST00000409254.1_5'Flank|LIMS2_ENST00000410011.1_Intron|LIMS2_ENST00000409808.2_Intron|LIMS2_ENST00000545738.2_Intron|LIMS2_ENST00000355119.4_Intron|LIMS2_ENST00000410038.1_5'Flank|LIMS2_ENST00000324938.5_Intron|GPR17_ENST00000486700.1_3'UTR|GPR17_ENST00000544369.1_Silent_p.P193P|LIMS2_ENST00000409455.1_Intron|GPR17_ENST00000393018.3_Silent_p.P193P	NM_001161416.1|NM_001161417.1|NM_005291.2	NP_001154888.1|NP_001154889.1|NP_005282.1	Q13304	GPR17_HUMAN	G protein-coupled receptor 17	193					chemokine-mediated signaling pathway (GO:0070098)|G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	chemokine receptor activity (GO:0004950)	p.P193P(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|prostate(2)|urinary_tract(1)	19	Colorectal(110;0.1)	Ovarian(717;0.15)		BRCA - Breast invasive adenocarcinoma(221;0.0677)		CCATGGCCCCGCTGCTGGTGA	0.667																																						ENST00000544369.1																			1	Substitution - coding silent(1)	p.P193P(1)	prostate(1)	endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|prostate(2)|urinary_tract(1)	19						c.(577-579)ccG>ccA		G protein-coupled receptor 17		G	,,,,,,,	0,4406		0,0,2203	92	86	88		,,,579,495,495,579,	-10.9	0.7	2		88	1,8599	1.2+/-3.3	0,1,4299	no	intron,intron,intron,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,intron	GPR17,LIMS2	NM_001136037.2,NM_001161403.1,NM_001161404.1,NM_001161415.1,NM_001161416.1,NM_001161417.1,NM_005291.2,NM_017980.4	,,,,,,,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,,,,,,,	,,,193/368,165/340,165/340,193/368,	128408804	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0					integral to plasma membrane	chemokine receptor activity|purinergic nucleotide receptor activity, G-protein coupled	g.chr2:128408804G>A		CCDS2148.1	2q21	2014-01-30			ENSG00000144230	ENSG00000144230		"GPCR / Class A : Orphans"	4471	protein-coding gene	gene with protein product		603071				8558062	Standard	NM_001161415		Approved		uc002tpc.3	Q13304	OTTHUMG00000131533	ENST00000272644.3:c.579G>A	2.37:g.128408804G>A						LIMS2_ENST00000324938.5_Intron|GPR17_ENST00000393018.3_Silent_p.P193P|LIMS2_ENST00000355119.4_Intron|GPR17_ENST00000486700.1_3'UTR|LIMS2_ENST00000410011.1_Intron|LIMS2_ENST00000409808.2_Intron|LIMS2_ENST00000409455.1_Intron|LIMS2_ENST00000545738.2_Intron|GPR17_ENST00000272644.3_Silent_p.P193P	p.P193P	NM_001161415.1	NP_001154887.1	Q13304	GPR17_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0677)	4	1190	+	Colorectal(110;0.1)	Ovarian(717;0.15)	193					A8K9L0|B2R9X0|Q8N5S7|Q9UDZ6|Q9UE21	Silent	SNP	ENST00000272644.3	37	c.579G>A	CCDS2148.1																																																																																				0.667	GPR17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254390.1			45	106	0	0	0	0.000147903	0	45	106					A	128408804	G	A	128408804	2	1	14	1	0	0	0	0	0	0	0	1	6667	1074	38	1		1	GPR17	2	128408804	Silent	SNP	G	TCGA-CH-5739-01A-11D-1576-08	59526552	128408804	114790569	14	559											
FAM126B	285172	broad.mit.edu	37	chr2	201846109	201846109	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttgacctagccggtcttcctGcagactgacagttgagtatc	8	12	10	11	1	1	4	0	3	1	1	3	4	2	4	3	1	2	3	3	1	2	5			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr2:201846109G>A	ENST00000418596.3	-	12	1664	c.1477C>T	c.(1477-1479)Cag>Tag	p.Q493*	AC005037.3_ENST00000332935.6_RNA|AC005037.3_ENST00000413848.1_RNA	NM_173822.3	NP_776183.1	Q8IXS8	F126B_HUMAN	family with sequence similarity 126, member B	493						intracellular (GO:0005622)		p.Q493*(1)		endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	16						CGGTCTTCCTGCAGACTGACA	0.512																																						ENST00000418596.2																			1	Substitution - Nonsense(1)	p.Q493*(1)	prostate(1)	endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	16						c.(1477-1479)Cag>Tag		family with sequence similarity 126, member B							118	97	104					2																	201846109		2203	4300	6503	SO:0001587	stop_gained	285172					intracellular		g.chr2:201846109G>A	BC039295	CCDS2335.1	2q33.1	2008-10-02			ENSG00000155744	ENSG00000155744			28593	protein-coding gene	gene with protein product						12477932	Standard	NM_173822		Approved	MGC39518, HYCC2	uc002uws.4	Q8IXS8	OTTHUMG00000132823	ENST00000418596.3:c.1477C>T	2.37:g.201846109G>A	ENSP00000393667:p.Gln493*					AC005037.3_ENST00000413848.1_RNA	p.Q493*	NM_173822.3	NP_776183.1	Q8IXS8	F126B_HUMAN			12	1664	-			493					B2RCG7|Q4ZG87|Q53TX6	Nonsense_Mutation	SNP	ENST00000418596.3	37	c.1477C>T	CCDS2335.1	.	.	.	.	.	.	.	.	.	.	G	30	5.055166	0.93793	.	.	ENSG00000155744	ENST00000418596	.	.	.	5.86	4.99	0.66335	.	0.243384	0.42682	D	0.000670	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.51188	T	0.08	-7.8694	14.8489	0.70281	0.0686:0.0:0.9314:0.0	.	.	.	.	X	493	.	ENSP00000393667:Q493X	Q	-	1	0	FAM126B	201554354	1.000000	0.71417	0.999000	0.59377	0.991000	0.79684	4.126000	0.57937	1.491000	0.48482	0.655000	0.94253	CAG		0.512	FAM126B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256285.3	NM_173822		33	60	0	0	0	0.000279167	0	33	60					A	201846109	G	A	201846109	4	1	14	1	0	0	0	0	0	1	0	0	5430	1328	46	3	119	3	FAM126B	2	201846109	Nonsense_Mutation	SNP	G	TCGA-CH-5739-01A-11D-1576-08	73437305	201846109	41353264	15	560											
MYH15	22989	broad.mit.edu	37	chr3	108117984	108117984	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgacacctgccggttggcacAgctaagctggagttccatct	8	10	11	12	1	1	1	0	1	1	0	2	2	2	2	3	3	3	5	3	3	1	3			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr3:108117984A>T	ENST00000273353.3	-	35	4983	c.4927T>A	c.(4927-4929)Tgt>Agt	p.C1643S		NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN	myosin, heavy chain 15	1643						cytoplasm (GO:0005737)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)	p.C1643S(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						CGGTTGGCACAGCTAAGCTGG	0.488																																						ENST00000273353.3																			1	Substitution - Missense(1)	p.C1643S(1)	prostate(1)	NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						c.(4927-4929)Tgt>Agt		myosin, heavy chain 15							89	91	91					3																	108117984		2149	4294	6443	SO:0001583	missense	22989					myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity	g.chr3:108117984A>T	AB023217	CCDS43127.1	3q13	2011-09-27	2006-09-29		ENSG00000144821	ENSG00000144821		"Myosins / Myosin superfamily : Class II"	31073	protein-coding gene	gene with protein product		609929	"myosin, heavy polypeptide 15"			15014174, 15042088	Standard	NM_014981		Approved	KIAA1000	uc003dxa.1	Q9Y2K3	OTTHUMG00000159226	ENST00000273353.3:c.4927T>A	3.37:g.108117984A>T	ENSP00000273353:p.Cys1643Ser						p.C1643S	NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN			35	4983	-			1643						Missense_Mutation	SNP	ENST00000273353.3	37	c.4927T>A	CCDS43127.1	.	.	.	.	.	.	.	.	.	.	A	13.03	2.115214	0.37339	.	.	ENSG00000144821	ENST00000273353	D	0.81659	-1.52	5.91	-5.88	0.02290	Myosin tail (1);	.	.	.	.	T	0.60025	0.2237	N	0.19112	0.55	0.09310	N	1	B	0.02656	0.0	B	0.11329	0.006	T	0.48502	-0.9030	9	0.72032	D	0.01	.	2.3237	0.04217	0.2627:0.1179:0.4095:0.2099	.	1643	Q9Y2K3	MYH15_HUMAN	S	1643	ENSP00000273353:C1643S	ENSP00000273353:C1643S	C	-	1	0	MYH15	109600674	0.089000	0.21612	0.000000	0.03702	0.472000	0.32918	0.977000	0.29475	-0.857000	0.04115	0.528000	0.53228	TGT		0.488	MYH15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353935.1	XM_036988		66	96	0	0	0	0.000147903	0	66	96					T	108117984	A	T	108117984	3	4	14	1	0	0	0	0	1	0	0	0	10034	188	7	5	945	5	MYH15	3	108117984	Missense_Mutation	SNP	A	TCGA-CH-5739-01A-11D-1576-08		108117984	89904446	16	561											
SRPRB	58477	broad.mit.edu	37	chr3	133525537	133525537	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgattccgggaaaacgttgcTctttgtcagggtaaatgatt	10	14	11	6	2	2	2	1	2	1	0	3	3	3	3	1	2	2	3	1	2	4	5			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr3:133525537T>G	ENST00000466490.2	+	3	524	c.239T>G	c.(238-240)cTc>cGc	p.L80R		NM_021203.3	NP_067026.3	Q9Y5M8	SRPRB_HUMAN	signal recognition particle receptor, B subunit	80					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|gene expression (GO:0010467)|small GTPase mediated signal transduction (GO:0007264)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	GTP binding (GO:0005525)	p.L80R(1)		breast(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|urinary_tract(2)	12						AAAACGTTGCTCTTTGTCAGG	0.403																																						ENST00000466490.2																			1	Substitution - Missense(1)	p.L80R(1)	prostate(1)	breast(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|urinary_tract(2)	12						c.(238-240)cTc>cGc		signal recognition particle receptor, B subunit							179	166	170					3																	133525537		2203	4300	6503	SO:0001583	missense	58477					endoplasmic reticulum membrane|integral to membrane	GTP binding|protein binding|receptor activity	g.chr3:133525537T>G	AK075531	CCDS3081.1	3q22.1	2004-01-29			ENSG00000144867	ENSG00000144867			24085	protein-coding gene	gene with protein product						7844142, 10859309	Standard	NM_021203		Approved	APMCF1	uc003epx.2	Q9Y5M8	OTTHUMG00000159753	ENST00000466490.2:c.239T>G	3.37:g.133525537T>G	ENSP00000418401:p.Leu80Arg						p.L80R	NM_021203.3	NP_067026.3	Q9Y5M8	SRPRB_HUMAN			3	524	+			80					Q6P595|Q8N2D8	Missense_Mutation	SNP	ENST00000466490.2	37	c.239T>G	CCDS3081.1	.	.	.	.	.	.	.	.	.	.	T	24.7	4.560683	0.86335	.	.	ENSG00000144867	ENST00000466490;ENST00000484684	T;T	0.64085	1.28;-0.08	5.33	5.33	0.75918	.	0.000000	0.56097	D	0.000025	D	0.84502	0.5486	H	0.94925	3.6	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.89039	0.3447	10	0.87932	D	0	-9.9471	14.9554	0.71110	0.0:0.0:0.0:1.0	.	80	Q9Y5M8	SRPRB_HUMAN	R	80	ENSP00000418401:L80R;ENSP00000417096:L80R	ENSP00000418401:L80R	L	+	2	0	SRPRB	135008227	1.000000	0.71417	0.996000	0.52242	0.981000	0.71138	6.561000	0.73955	2.016000	0.59253	0.533000	0.62120	CTC		0.403	SRPRB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357170.2			21	165	0	0	0	0.000132079	0	21	165					G	133525537	T	G	133525537	3	3	14	1	0	0	0	0	1	0	0	0	15162	1551	54	5	245	5	SRPRB	3	133525537	Missense_Mutation	SNP	T	TCGA-CH-5739-01A-11D-1576-08	25407553	133525537	64496893	17	562											
SEPSECS	51091	broad.mit.edu	37	chr4	25160704	25160704	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agagttcaagtgtactttcaTcccagccattctctggacac	10	12	7	12	0	3	1	2	0	1	1	5	2	4	2	2	1	2	2	2	1	2	4			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr4:25160704T>C	ENST00000382103.2	-	2	212	c.140A>G	c.(139-141)gAt>gGt	p.D47G	SEPSECS_ENST00000302922.3_Intron|PI4K2B_ENST00000512921.1_5'Flank	NM_016955.3	NP_058651.3	Q9HD40	SPCS_HUMAN	Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase	47					selenocysteine incorporation (GO:0001514)|selenocysteinyl-tRNA(Sec) biosynthetic process (GO:0097056)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	pyridoxal phosphate binding (GO:0030170)|transferase activity, transferring selenium-containing groups (GO:0016785)|tRNA binding (GO:0000049)	p.D47G(2)		endometrium(1)|large_intestine(4)|lung(2)|stomach(1)	8		Breast(46;0.173)				TGTACTTTCATCCCAGCCATT	0.363																																						ENST00000382103.2																			2	Substitution - Missense(2)	p.D47G(2)	prostate(1)|kidney(1)	endometrium(1)|large_intestine(4)|lung(2)|stomach(1)	8						c.(139-141)gAt>gGt		Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase	Pyridoxal Phosphate(DB00114)						118	108	111					4																	25160704		1865	4098	5963	SO:0001583	missense	51091				selenocysteine incorporation	cytoplasm|nucleus	pyridoxal phosphate binding|transferase activity, transferring selenium-containing groups|tRNA binding	g.chr4:25160704T>C	AJ238617	CCDS3432.1, CCDS3432.2	4p15.2	2008-10-27			ENSG00000109618	ENSG00000109618			30605	protein-coding gene	gene with protein product	"soluble liver antigen/liver pancreas antigen"	613009				16230358, 10931155, 17142313, 17194211	Standard	NM_016955		Approved	SLA/LP, SLA	uc003grg.3	Q9HD40	OTTHUMG00000128563	ENST00000382103.2:c.140A>G	4.37:g.25160704T>C	ENSP00000371535:p.Asp47Gly					SEPSECS_ENST00000302922.3_Intron	p.D47G	NM_016955.3	NP_058651.3	Q9HD40	SPCS_HUMAN			2	212	-		Breast(46;0.173)	47					A8K8W1|Q0D2P3|Q17RT1|Q9NXZ5|Q9UGM9|Q9Y353	Missense_Mutation	SNP	ENST00000382103.2	37	c.140A>G	CCDS3432.2	.	.	.	.	.	.	.	.	.	.	T	13.10	2.137631	0.37728	.	.	ENSG00000109618	ENST00000382103;ENST00000513285	D;D	0.81908	-1.55;-1.55	5.71	5.71	0.89125	Pyridoxal phosphate-dependent transferase, major domain (1);	0.188853	0.56097	D	0.000029	D	0.84257	0.5432	M	0.72894	2.215	0.80722	D	1	B;B	0.25904	0.137;0.028	B;B	0.32533	0.147;0.008	T	0.82750	-0.0303	10	0.56958	D	0.05	-2.1426	15.9715	0.80025	0.0:0.0:0.0:1.0	.	46;47	Q9HD40-3;Q9HD40	.;SPCS_HUMAN	G	47;132	ENSP00000371535:D47G;ENSP00000423361:D132G	ENSP00000371535:D47G	D	-	2	0	SEPSECS	24769802	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.862000	0.48388	2.165000	0.68154	0.528000	0.53228	GAT		0.363	SEPSECS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250414.2	NM_016955		9	44	0	0	0	0.00047179	0	9	44					C	25160704	T	C	25160704	3	2	14	1	0	0	0	0	1	0	0	0	14058	1435	50	4	1405	4	SEPSECS	4	25160704	Missense_Mutation	SNP	T	TCGA-CH-5739-01A-11D-1576-08		25160704	165993572	18	563											
ARHGEF37	389337	broad.mit.edu	37	chr5	149011707	149011707	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	atgtgccttctggcttcttgGccagggctcggagcccagtt	4	12	13	12	1	2	0	0	0	2	0	3	1	2	1	3	4	2	3	3	4	0	4			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr5:149011707G>C	ENST00000333677.6	+	13	2144	c.1981G>C	c.(1981-1983)Gcc>Ccc	p.A661P		NM_001001669.2	NP_001001669.2	A1IGU5	ARH37_HUMAN	Rho guanine nucleotide exchange factor (GEF) 37	661	SH3 2. {ECO:0000255|PROSITE- ProRule:PRU00192}.					cytoplasm (GO:0005737)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.A661P(1)		large_intestine(5)|lung(6)|ovary(1)|prostate(2)|stomach(3)	17						TGGCTTCTTGGCCAGGGCTCG	0.592																																						ENST00000333677.6																			1	Substitution - Missense(1)	p.A661P(1)	prostate(1)	large_intestine(5)|lung(6)|ovary(1)|prostate(2)|stomach(3)	17						c.(1981-1983)Gcc>Ccc		Rho guanine nucleotide exchange factor (GEF) 37							83	86	85					5																	149011707		1916	4122	6038	SO:0001583	missense	389337				regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity	g.chr5:149011707G>C	BC041325	CCDS43385.1	5q33.1	2012-07-24			ENSG00000183111	ENSG00000183111		"Rho guanine nucleotide exchange factors"	34430	protein-coding gene	gene with protein product							Standard	XM_005268448		Approved	FLJ41603	uc003lra.1	A1IGU5	OTTHUMG00000163491	ENST00000333677.6:c.1981G>C	5.37:g.149011707G>C	ENSP00000328083:p.Ala661Pro						p.A661P	NM_001001669.2	NP_001001669.2	A1IGU5	ARH37_HUMAN			13	2144	+			661			SH3 2.		Q6ZW51	Missense_Mutation	SNP	ENST00000333677.6	37	c.1981G>C	CCDS43385.1	.	.	.	.	.	.	.	.	.	.	G	16.31	3.086268	0.55861	.	.	ENSG00000183111	ENST00000333677	T	0.68765	-0.35	5.44	5.44	0.79542	Src homology-3 domain (3);	0.284902	0.39407	N	0.001378	T	0.74665	0.3746	M	0.87180	2.865	0.36491	D	0.868442	D	0.56521	0.976	P	0.44597	0.454	T	0.82139	-0.0605	10	0.38643	T	0.18	.	18.8438	0.92196	0.0:0.0:1.0:0.0	.	661	A1IGU5	ARH37_HUMAN	P	661	ENSP00000328083:A661P	ENSP00000328083:A661P	A	+	1	0	ARHGEF37	148991900	1.000000	0.71417	1.000000	0.80357	0.255000	0.26057	3.841000	0.55850	2.545000	0.85829	0.655000	0.94253	GCC		0.592	ARHGEF37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373763.1	NM_001001669		3	93	0	0	0	0.00024832	0	3	93					C	149011707	G	C	149011707	3	2	14	1	0	0	0	0	1	0	0	0	906	1203	42	5	2027	5	ARHGEF37	5	149011707	Missense_Mutation	SNP	G	TCGA-CH-5739-01A-11D-1576-08		149011707	31903553	19	564											
SDK1	221935	broad.mit.edu	37	chr7	3990604	3990604	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccaaccattgtggttcccccGggcaacagaagtgtggtggc	8	8	13	12	1	0	1	0	0	0	1	1	1	1	1	4	4	2	2	4	4	3	2	rs202239316		TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr7:3990604G>A	ENST00000404826.2	+	6	1036	c.897G>A	c.(895-897)ccG>ccA	p.P299P	SDK1_ENST00000389531.3_Silent_p.P299P	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	299	Ig-like C2-type 3.				cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)		p.P299P(1)		NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		TGGTTCCCCCGGGCAACAGAA	0.522													G|||	1	0.000199681	0	0	5008	,	,		18657	0.001		0	False		,,,				2504	0					ENST00000404826.2																			1	Substitution - coding silent(1)	p.P299P(1)	prostate(1)	NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153						c.(895-897)ccG>ccA		sidekick cell adhesion molecule 1							102	78	86					7																	3990604		2203	4300	6503	SO:0001819	synonymous_variant	221935				cell adhesion	integral to membrane		g.chr7:3990604G>A	AK074077	CCDS34590.1	7p22.3	2013-02-11	2011-12-09		ENSG00000146555	ENSG00000146555		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	19307	protein-coding gene	gene with protein product		607216	"sidekick homolog 1 (chicken)", "sidekick homolog 1, cell adhesion molecule (chicken)"			12230981, 17307840, 15213259	Standard	NM_001079653		Approved	FLJ31425	uc003smx.3	Q7Z5N4	OTTHUMG00000151733	ENST00000404826.2:c.897G>A	7.37:g.3990604G>A						SDK1_ENST00000389531.3_Silent_p.P299P	p.P299P	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)	6	1036	+		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)	299			Ig-like C2-type 3.		Q8TEN9|Q8TEP5|Q96N44	Silent	SNP	ENST00000404826.2	37	c.897G>A	CCDS34590.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	7.362	0.625118	0.14257	.	.	ENSG00000146555	ENST00000426596	.	.	.	5.51	-11.0	0.00169	.	.	.	.	.	T	0.43919	0.1269	.	.	.	0.58432	D	0.999997	.	.	.	.	.	.	T	0.57130	-0.7864	4	.	.	.	.	6.906	0.24309	0.1597:0.2412:0.5196:0.0794	.	.	.	.	Q	18	.	.	R	+	2	0	SDK1	3957130	0.000000	0.05858	0.027000	0.17364	0.877000	0.50540	-5.232000	0.00139	-3.450000	0.00161	-0.302000	0.09304	CGG		0.522	SDK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323702.1	NM_152744		36	68	0	0	0	0.000125731	0	36	68					A	3990604	G	A	3990604	2	1	14	1	0	0	0	0	0	0	0	1	13968	1103	39	2		2	SDK1	7	3990604	Silent	SNP	G	TCGA-CH-5739-01A-11D-1576-08		3990604	155148059	20	565											
CLEC5A	23601	broad.mit.edu	37	chr7	141635653	141635653	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acaattgccaatgtggatccTtttcctttgcaaaagtccct	10	14	6	11	0	0	0	0	0	0	0	3	1	3	1	4	1	2	1	4	1	4	4			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr7:141635653T>C	ENST00000546910.1	-	5	502	c.306A>G	c.(304-306)aaA>aaG	p.K102K	CLEC5A_ENST00000470595.1_Intron|CLEC5A_ENST00000439991.1_Intron|CLEC5A_ENST00000551012.2_Silent_p.K79K|CLEC5A_ENST00000438351.1_Silent_p.K79K	NM_013252.2	NP_037384.1	Q9NY25	CLC5A_HUMAN	C-type lectin domain family 5, member A	102	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				cellular defense response (GO:0006968)|innate immune response (GO:0045087)|negative regulation of apoptotic process (GO:0043066)|negative regulation of myeloid cell apoptotic process (GO:0033033)|osteoblast development (GO:0002076)|positive regulation of cytokine secretion (GO:0050715)|response to virus (GO:0009615)|signal transduction (GO:0007165)|viral process (GO:0016032)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|virus receptor activity (GO:0001618)	p.K102K(1)		endometrium(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)	10	Melanoma(164;0.0171)					ATGTGGATCCTTTTCCTTTGC	0.448																																					GBM(154;1592 2613 3360 42983)	ENST00000546910.1																			1	Substitution - coding silent(1)	p.K102K(1)	prostate(1)	endometrium(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)	10						c.(304-306)aaA>aaG		C-type lectin domain family 5, member A							161	139	146					7																	141635653		2203	4300	6503	SO:0001819	synonymous_variant	23601				anti-apoptosis|cellular defense response|innate immune response|interspecies interaction between organisms|osteoblast development	cell surface|integral to plasma membrane	sugar binding|viral receptor activity	g.chr7:141635653T>C		CCDS5870.1, CCDS75670.1	7q34	2012-10-03	2005-02-09	2005-02-09	ENSG00000258227	ENSG00000258227		"C-type lectin domain containing"	2054	protein-coding gene	gene with protein product		604987	"C-type (calcium dependent, carbohydrate-recognition domain) lectin, superfamily member 5"	CLECSF5		10449773	Standard	NM_013252		Approved	MDL-1	uc003vwv.1	Q9NY25	OTTHUMG00000157173	ENST00000546910.1:c.306A>G	7.37:g.141635653T>C						CLEC5A_ENST00000470595.1_Intron|CLEC5A_ENST00000551012.2_Silent_p.K79K|CLEC5A_ENST00000438351.1_Silent_p.K79K|CLEC5A_ENST00000439991.1_Intron	p.K102K	NM_013252.2	NP_037384.1	Q9NY25	CLC5A_HUMAN			5	502	-	Melanoma(164;0.0171)		102			C-type lectin.		Q52M11|Q9UKQ0	Silent	SNP	ENST00000546910.1	37	c.306A>G	CCDS5870.1																																																																																				0.448	CLEC5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347756.1	NM_013252		43	168	0	0	0	0.000589545	0	43	168					C	141635653	T	C	141635653	2	2	14	1	0	0	0	0	0	0	0	1	3519	1606	56	4		4	CLEC5A	7	141635653	Silent	SNP	T	TCGA-CH-5739-01A-11D-1576-08	137645049	141635653	17503010	21	566											
NCAPG2	54892	broad.mit.edu	37	chr7	158451099	158451099	+	Splice_Site	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagggatcttgcagcgatcaTcctaaaagcgaaaaaagaaa	19	6	9	7	2	2	1	1	0	1	1	3	4	3	2	1	1	3	1	1	1	7	2			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr7:158451099T>A	ENST00000409423.1	-	18	2163	c.1991A>T	c.(1990-1992)gAt>gTt	p.D664V	NCAPG2_ENST00000409339.3_Splice_Site_p.D664V|NCAPG2_ENST00000449727.2_Splice_Site_p.D664V|NCAPG2_ENST00000541468.1_Splice_Site_p.D165V|NCAPG2_ENST00000275830.10_Splice_Site_p.D456V|NCAPG2_ENST00000356309.3_Splice_Site_p.D664V	NM_001281932.1	NP_001268861.1	Q86XI2	CNDG2_HUMAN	non-SMC condensin II complex, subunit G2	664					chromosome condensation (GO:0030261)|inner cell mass cell proliferation (GO:0001833)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	methylated histone binding (GO:0035064)	p.D664V(1)		NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(7)|liver(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	39	Ovarian(565;0.152)	all_cancers(7;3.44e-11)|all_epithelial(9;3.05e-05)|all_hematologic(28;0.014)	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.187)|STAD - Stomach adenocarcinoma(7;0.18)		GCAGCGATCATCCTAAAAGCG	0.383																																						ENST00000409339.3																			1	Substitution - Missense(1)	p.D664V(1)	prostate(1)	NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(7)|liver(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	39						c.e17-1		non-SMC condensin II complex, subunit G2							46	45	45					7																	158451099		1864	4112	5976	SO:0001630	splice_region_variant	54892				cell division|chromosome condensation|mitosis	nucleus	methylated histone residue binding	g.chr7:158451099T>A	BC043404	CCDS43686.1, CCDS64816.1	7q36.3	2006-09-04	2006-09-04	2006-09-04	ENSG00000146918	ENSG00000146918			21904	protein-coding gene	gene with protein product		608532	"leucine zipper protein 5"	LUZP5		14532007	Standard	NM_001281933		Approved	FLJ20311, MTB, CAP-G2, hCAP-G2	uc003wnv.1	Q86XI2	OTTHUMG00000151438	ENST00000409423.1:c.1990-1A>T	7.37:g.158451099T>A						NCAPG2_ENST00000449727.2_Splice_Site_p.D664_splice|NCAPG2_ENST00000409423.1_Splice_Site_p.D664_splice|NCAPG2_ENST00000275830.10_Splice_Site_p.D456_splice|NCAPG2_ENST00000541468.1_Splice_Site_p.D165_splice|NCAPG2_ENST00000356309.3_Splice_Site_p.D664_splice	p.D664_splice			Q86XI2	CNDG2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.187)|STAD - Stomach adenocarcinoma(7;0.18)	17	2104	-	Ovarian(565;0.152)	all_cancers(7;3.44e-11)|all_epithelial(9;3.05e-05)|all_hematologic(28;0.014)	664					A4D228|Q7Z3J9|Q8WUG8|Q9BRX6|Q9H8S2|Q9H9K6	Splice_Site	SNP	ENST00000409423.1	37	c.1989_splice	CCDS43686.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	26.3|26.3	4.728145|4.728145	0.89390|0.89390	.|.	.|.	ENSG00000146918|ENSG00000146918	ENST00000541468;ENST00000356309;ENST00000409423;ENST00000275830;ENST00000409339;ENST00000545393;ENST00000449727|ENST00000441982	T;T;T;T;T;T|.	0.38401|.	1.17;1.15;1.15;1.19;1.14;1.14|.	5.7|5.7	5.7|5.7	0.88788|0.88788	.|.	0.090754|.	0.85682|.	D|.	0.000000|.	T|T	0.73102|0.73102	0.3544|0.3544	M|M	0.66939|0.66939	2.045|2.045	0.80722|0.80722	D|D	1|1	D;D;D;D|.	0.89917|.	1.0;1.0;0.998;1.0|.	D;D;D;D|.	0.78314|.	0.991;0.988;0.957;0.98|.	T|T	0.72659|0.72659	-0.4226|-0.4226	10|5	0.87932|.	D|.	0|.	-29.0247|-29.0247	15.9677|15.9677	0.79987|0.79987	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	664;107;456;664|.	Q86XI2-2;B4DHE5;E7EUH9;Q86XI2|.	.;.;.;CNDG2_HUMAN|.	V|L	165;664;664;456;664;107;664|466	ENSP00000442337:D165V;ENSP00000348657:D664V;ENSP00000386569:D664V;ENSP00000275830:D456V;ENSP00000387007:D664V;ENSP00000388326:D664V|.	ENSP00000275830:D456V|.	D|M	-|-	2|1	0|0	NCAPG2|NCAPG2	158143860|158143860	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.905000|0.905000	0.53344|0.53344	7.064000|7.064000	0.76721|0.76721	2.181000|2.181000	0.69327|0.69327	0.533000|0.533000	0.62120|0.62120	GAT|ATG		0.383	NCAPG2-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327111.1	NM_017760	Missense_Mutation	14	31	0	0	0	0.000308642	0	14	31					A	158451099	T	A	158451099	5	1	14	1	0	0	0	0	0	0	1	0	10208	1449	50	5	1488	5	NCAPG2	7	158451099	Splice_Site	SNP	T	TCGA-CH-5739-01A-11D-1576-08	16815446	158451099	687564	22	567											
ZHX2	22882	broad.mit.edu	37	chr8	123964946	123964946	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	catcacacttgccgtggcagGagtcaccaaccatggccaga	11	6	10	14	1	2	1	2	0	0	1	2	2	2	2	4	3	2	1	4	3	1	1			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr8:123964946G>T	ENST00000314393.4	+	3	2031	c.1196G>T	c.(1195-1197)gGa>gTa	p.G399V		NM_014943.3	NP_055758.1	Q9Y6X8	ZHX2_HUMAN	zinc fingers and homeoboxes 2	399	Required for interaction with NFYA.|Required for nuclear localization.|Required for repressor activity.				mRNA catabolic process (GO:0006402)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)	p.G399V(1)		breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	45	Lung NSC(37;2e-09)|Ovarian(258;0.0205)|Hepatocellular(40;0.105)		STAD - Stomach adenocarcinoma(47;0.00527)			GCCGTGGCAGGAGTCACCAAC	0.627																																					Esophageal Squamous(94;1056 1388 11767 13799 49639)	ENST00000314393.4																			1	Substitution - Missense(1)	p.G399V(1)	prostate(1)	breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	45						c.(1195-1197)gGa>gTa		zinc fingers and homeoboxes 2							51	57	55					8																	123964946		2203	4300	6503	SO:0001583	missense	22882					cytoplasm|nucleus|plasma membrane	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:123964946G>T	AB020661	CCDS6336.1	8q24.13	2012-03-09	2004-01-23		ENSG00000178764	ENSG00000178764		"Zinc fingers, C2H2-type", "Homeoboxes / ZF class"	18513	protein-coding gene	gene with protein product		609185	"zinc-fingers and homeoboxes 2"			10048485, 12741956	Standard	XM_005250837		Approved	KIAA0854	uc003ypk.1	Q9Y6X8	OTTHUMG00000165077	ENST00000314393.4:c.1196G>T	8.37:g.123964946G>T	ENSP00000314709:p.Gly399Val						p.G399V	NM_014943.3	NP_055758.1	Q9Y6X8	ZHX2_HUMAN	STAD - Stomach adenocarcinoma(47;0.00527)		3	2031	+	Lung NSC(37;2e-09)|Ovarian(258;0.0205)|Hepatocellular(40;0.105)		399			Required for interaction with NFYA.|Required for nuclear localization.|Required for repressor activity.			Missense_Mutation	SNP	ENST00000314393.4	37	c.1196G>T	CCDS6336.1	.	.	.	.	.	.	.	.	.	.	G	15.40	2.823202	0.50739	.	.	ENSG00000178764	ENST00000314393	T	0.20738	2.05	5.72	5.72	0.89469	.	0.320352	0.32736	N	0.005701	T	0.36303	0.0962	L	0.34521	1.04	0.54753	D	0.999986	D	0.89917	1.0	D	0.87578	0.998	T	0.03017	-1.1082	10	0.54805	T	0.06	-13.1157	15.4162	0.74970	0.0:0.0:1.0:0.0	.	399	Q9Y6X8	ZHX2_HUMAN	V	399	ENSP00000314709:G399V	ENSP00000314709:G399V	G	+	2	0	ZHX2	124034127	0.986000	0.35501	0.986000	0.45419	0.751000	0.42716	2.478000	0.45189	2.718000	0.92993	0.485000	0.47835	GGA		0.627	ZHX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381709.1	NM_014943		25	57	1	0	5.61819e-17	0.000117367	1.237e-15	25	57					T	123964946	G	T	123964946	3	4	14	1	0	0	0	0	1	0	0	0	17673	1174	41	5	1198	5	ZHX2	8	123964946	Missense_Mutation	SNP	G	TCGA-CH-5739-01A-11D-1576-08		123964946	22399076	23	568											
FER1L6	654463	broad.mit.edu	37	chr8	125072891	125072891	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacaaggtgtgaagtcctgcGtgatccagagctacaagaac	13	7	12	9	1	0	4	0	2	0	2	2	5	2	4	2	1	4	1	2	1	5	1	rs138376786	byFrequency	TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr8:125072891G>A	ENST00000522917.1	+	24	3294	c.3088G>A	c.(3088-3090)Gtg>Atg	p.V1030M	FER1L6_ENST00000399018.1_Missense_Mutation_p.V1030M|FER1L6-AS2_ENST00000520031.1_RNA|FER1L6-AS2_ENST00000601180.1_RNA	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like family member 6	1030						integral component of membrane (GO:0016021)		p.V1030M(2)		NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			GAAGTCCTGCGTGATCCAGAG	0.547													G|||	4	0.000798722	0	0.0014	5008	,	,		17487	0		0.001	False		,,,				2504	0.002					ENST00000522917.1																			2	Substitution - Missense(2)	p.V1030M(2)	large_intestine(1)|prostate(1)	NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118						c.(3088-3090)Gtg>Atg		fer-1-like 6 (C. elegans)		G	MET/VAL	1,4405	2.1+/-5.4	0,1,2202	145	131	136		3088	5.9	1	8	dbSNP_134	136	16,8584	10.5+/-38.8	0,16,4284	yes	missense	FER1L6	NM_001039112.2	21	0,17,6486	AA,AG,GG		0.186,0.0227,0.1307	probably-damaging	1030/1858	125072891	17,12989	2203	4300	6503	SO:0001583	missense	654463					integral to membrane		g.chr8:125072891G>A	AB196633	CCDS43767.1	8q24.13	2014-06-27	2014-06-27		ENSG00000214814	ENSG00000214814			28065	protein-coding gene	gene with protein product			"fer-1-like 6 (C. elegans)"				Standard	NM_001039112		Approved	C8ORFK23	uc003yqw.3	Q2WGJ9	OTTHUMG00000164998	ENST00000522917.1:c.3088G>A	8.37:g.125072891G>A	ENSP00000428280:p.Val1030Met					FER1L6-AS2_ENST00000520031.1_RNA|FER1L6-AS2_ENST00000601180.1_RNA|FER1L6_ENST00000399018.1_Missense_Mutation_p.V1030M	p.V1030M	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	STAD - Stomach adenocarcinoma(47;0.00186)		24	3294	+	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		1030						Missense_Mutation	SNP	ENST00000522917.1	37	c.3088G>A	CCDS43767.1	2	9.157509157509158E-4	0	0.0	1	0.0027624309392265192	0	0.0	1	0.0013192612137203166	G	26.3	4.719859	0.89205	2.27E-4	0.00186	ENSG00000214814	ENST00000522917;ENST00000399018	D;D	0.81579	-1.51;-1.51	5.95	5.95	0.96441	C2 calcium-dependent membrane targeting (1);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.64402	U	0.000001	D	0.90724	0.7089	M	0.79926	2.475	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.90657	0.4587	10	0.66056	D	0.02	-16.6725	19.9804	0.97323	0.0:0.0:1.0:0.0	.	1030	Q2WGJ9	FR1L6_HUMAN	M	1030	ENSP00000428280:V1030M;ENSP00000381982:V1030M	ENSP00000381982:V1030M	V	+	1	0	FER1L6	125142072	0.999000	0.42202	0.993000	0.49108	0.964000	0.63967	2.637000	0.46553	2.825000	0.97269	0.655000	0.94253	GTG		0.547	FER1L6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381400.1	NM_001039112		8	137	0	0	0	0.000274275	0	8	137					A	125072891	G	A	125072891	3	1	14	1	0	0	0	0	1	0	0	0	5815	1145	40	1	3178	1	FER1L6	8	125072891	Missense_Mutation	SNP	G	TCGA-CH-5739-01A-11D-1576-08	1107945	125072891	21291131	24	569											
COL22A1	169044	broad.mit.edu	37	chr8	139788238	139788238	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcgagttcccttttcacctcGttctccttggagaccctggg	4	14	9	14	2	2	1	1	0	1	1	6	3	3	1	4	2	0	2	4	2	0	5			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr8:139788238G>A	ENST00000303045.6	-	16	2220	c.1774C>T	c.(1774-1776)Cga>Tga	p.R592*	COL22A1_ENST00000435777.1_Nonsense_Mutation_p.R592*	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	592	Collagen-like 3.|Gly-rich.|Pro-rich.				extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			TTTTCACCTCGTTCTCCTTGG	0.493										HNSCC(7;0.00092)																												ENST00000303045.6																			0				breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211						c.(1774-1776)Cga>Tga		collagen, type XXII, alpha 1							230	201	211					8																	139788238		2203	4300	6503	SO:0001587	stop_gained	169044				cell adhesion	collagen|cytoplasm	structural molecule activity	g.chr8:139788238G>A	AF406780	CCDS6376.1	8q24.3	2013-01-16			ENSG00000169436	ENSG00000169436		"Collagens"	22989	protein-coding gene	gene with protein product		610026					Standard	NM_152888		Approved		uc003yvd.3	Q8NFW1	OTTHUMG00000150035	ENST00000303045.6:c.1774C>T	8.37:g.139788238G>A	ENSP00000303153:p.Arg592*	HNSCC(7;0.00092)				COL22A1_ENST00000435777.1_Nonsense_Mutation_p.R592*	p.R592*	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0517)		16	2220	-	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		592			Collagen-like 3.|Gly-rich.|Pro-rich.		B7ZMH0|C9K0G4|Q8IVT9	Nonsense_Mutation	SNP	ENST00000303045.6	37	c.1774C>T	CCDS6376.1	.	.	.	.	.	.	.	.	.	.	G	44	10.833860	0.99475	.	.	ENSG00000169436	ENST00000303045;ENST00000435777	.	.	.	4.41	4.41	0.53225	.	0.157271	0.28093	N	0.016625	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.10111	T	0.7	.	12.8234	0.57707	0.0:0.0:1.0:0.0	.	.	.	.	X	592	.	ENSP00000303153:R592X	R	-	1	2	COL22A1	139857420	0.929000	0.31497	0.999000	0.59377	0.956000	0.61745	2.729000	0.47327	2.748000	0.94277	0.655000	0.94253	CGA		0.493	COL22A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000315905.2	XM_291257		6	232	0	0	0	8.12818e-05	0	6	232					A	139788238	G	A	139788238	4	1	14	1	0	0	0	0	0	1	0	0	3681	1153	40	1	3306	1	COL22A1	8	139788238	Nonsense_Mutation	SNP	G	TCGA-CH-5739-01A-11D-1576-08	14715347	139788238	6575784	25	570											
TGFBR1	7046	broad.mit.edu	37	chr9	101900330	101900330	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttatcaaactgtaatgttacGtcatgaaaacatcctgggat	14	13	7	7	1	2	1	2	1	0	0	3	2	3	2	1	1	3	2	1	1	6	3			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr9:101900330G>T	ENST00000374994.4	+	4	881	c.764G>T	c.(763-765)cGt>cTt	p.R255L	TGFBR1_ENST00000552516.1_Missense_Mutation_p.R259L|TGFBR1_ENST00000374990.2_Missense_Mutation_p.R178L|TGFBR1_ENST00000550253.1_Missense_Mutation_p.R186L	NM_004612.2	NP_004603.1	P36897	TGFR1_HUMAN	transforming growth factor, beta receptor 1	255	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPKK activity (GO:0000186)|angiogenesis (GO:0001525)|anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|artery morphogenesis (GO:0048844)|blastocyst development (GO:0001824)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cellular response to transforming growth factor beta stimulus (GO:0071560)|collagen fibril organization (GO:0030199)|embryonic cranial skeleton morphogenesis (GO:0048701)|endothelial cell migration (GO:0043542)|epithelial to mesenchymal transition (GO:0001837)|extracellular structure organization (GO:0043062)|germ cell migration (GO:0008354)|heart development (GO:0007507)|in utero embryonic development (GO:0001701)|kidney development (GO:0001822)|lens development in camera-type eye (GO:0002088)|mesenchymal cell differentiation (GO:0048762)|negative regulation of apoptotic process (GO:0043066)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron fate commitment (GO:0048663)|palate development (GO:0060021)|parathyroid gland development (GO:0060017)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|pharyngeal system development (GO:0060037)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell growth (GO:0030307)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cellular component movement (GO:0051272)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of transcription, DNA-templated (GO:0045893)|post-embryonic development (GO:0009791)|protein phosphorylation (GO:0006468)|regulation of protein binding (GO:0043393)|regulation of protein ubiquitination (GO:0031396)|regulation of transcription, DNA-templated (GO:0006355)|response to cholesterol (GO:0070723)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)|skeletal system morphogenesis (GO:0048705)|thymus development (GO:0048538)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	endosome (GO:0005768)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|tight junction (GO:0005923)|transforming growth factor beta receptor homodimeric complex (GO:0070022)	ATP binding (GO:0005524)|I-SMAD binding (GO:0070411)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|SMAD binding (GO:0046332)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta receptor activity, type I (GO:0005025)|transforming growth factor beta-activated receptor activity (GO:0005024)|type II transforming growth factor beta receptor binding (GO:0005114)	p.R255L(1)		endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	27		Acute lymphoblastic leukemia(62;0.0559)				GTAATGTTACGTCATGAAAAC	0.378																																						ENST00000374994.4																			1	Substitution - Missense(1)	p.R255L(1)	prostate(1)	endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	27						c.(763-765)cGt>cTt		transforming growth factor, beta receptor 1							138	136	137					9																	101900330		2203	4300	6503	SO:0001583	missense	7046				activation of MAPKK activity|anterior/posterior pattern formation|artery morphogenesis|collagen fibril organization|embryonic cranial skeleton morphogenesis|germ cell migration|heart development|kidney development|neuron fate commitment|palate development|parathyroid gland development|pathway-restricted SMAD protein phosphorylation|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|pharyngeal system development|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of cellular component movement|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of SMAD protein import into nucleus|positive regulation of survival gene product expression|positive regulation of transcription, DNA-dependent|response to cholesterol|thymus development|transforming growth factor beta receptor signaling pathway		ATP binding|I-SMAD binding|metal ion binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type I|type II transforming growth factor beta receptor binding	g.chr9:101900330G>T		CCDS6738.1, CCDS47998.1	9q22	2014-01-30	2008-07-31		ENSG00000106799	ENSG00000106799			11772	protein-coding gene	gene with protein product	"activin A receptor type II-like kinase, 53kDa"	190181	"transforming growth factor, beta receptor I (activin A receptor type II-like kinase, 53kD)", "multiple self-healing squamous epithelioma"	MSSE, ESS1		1319842, 8530052, 21358634	Standard	NM_001130916		Approved	ALK-5, ACVRLK4	uc004azc.3	P36897	OTTHUMG00000020353	ENST00000374994.4:c.764G>T	9.37:g.101900330G>T	ENSP00000364133:p.Arg255Leu					TGFBR1_ENST00000552516.1_Missense_Mutation_p.R259L|TGFBR1_ENST00000550253.1_Missense_Mutation_p.R186L|TGFBR1_ENST00000374990.2_Missense_Mutation_p.R178L	p.R255L	NM_004612.2	NP_004603.1	P36897	TGFR1_HUMAN			4	881	+		Acute lymphoblastic leukemia(62;0.0559)	255			Protein kinase.		Q6IR47|Q706C0|Q706C1	Missense_Mutation	SNP	ENST00000374994.4	37	c.764G>T	CCDS6738.1	.	.	.	.	.	.	.	.	.	.	G	23.9	4.470776	0.84533	.	.	ENSG00000106799	ENST00000374994;ENST00000540092;ENST00000374990;ENST00000552516;ENST00000549021;ENST00000550253	D;D;D;D;D	0.94280	-3.39;-3.39;-3.39;-3.39;-3.39	5.36	5.36	0.76844	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.97642	0.9227	M	0.93939	3.475	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.998	D	0.98619	1.0666	9	.	.	.	.	17.8646	0.88792	0.0:0.0:1.0:0.0	.	178;255	P36897-3;P36897	.;TGFR1_HUMAN	L	255;255;178;259;109;186	ENSP00000364133:R255L;ENSP00000364129:R178L;ENSP00000447297:R259L;ENSP00000449028:R109L;ENSP00000450052:R186L	.	R	+	2	0	TGFBR1	100940151	1.000000	0.71417	1.000000	0.80357	0.434000	0.31775	9.810000	0.99221	2.530000	0.85305	0.655000	0.94253	CGT		0.378	TGFBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053390.3			55	132	1	0	4.96213e-28	0.000147903	1.13302e-26	55	132					T	101900330	G	T	101900330	3	4	14	1	0	0	0	0	1	0	0	0	15818	1145	40	5	778	5	TGFBR1	9	101900330	Missense_Mutation	SNP	G	TCGA-CH-5739-01A-11D-1576-08		101900330	39313101	26	571											
LRIT2	340745	broad.mit.edu	37	chr10	85981837	85981837	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cctgcgatgaagacagccgcGcaggacccacttgctgcagc	9	5	12	15	3	0	2	0	1	0	1	0	4	0	3	3	1	5	3	3	1	1	1	rs372043491		TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr10:85981837G>A	ENST00000372113.4	-	3	1497	c.1492C>T	c.(1492-1494)Cgc>Tgc	p.R498C	LRIT2_ENST00000538192.1_Missense_Mutation_p.R508C	NM_001017924.2	NP_001017924.1	A6NDA9	LRIT2_HUMAN	leucine-rich repeat, immunoglobulin-like and transmembrane domains 2	498						integral component of membrane (GO:0016021)		p.R498C(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(3)|prostate(6)|urinary_tract(1)	32						AGACAGCCGCGCAGGACCCAC	0.637																																						ENST00000372113.4																			1	Substitution - Missense(1)	p.R498C(1)	prostate(1)	central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(3)|prostate(6)|urinary_tract(1)	32						c.(1492-1494)Cgc>Tgc		leucine-rich repeat, immunoglobulin-like and transmembrane domains 2		G	CYS/ARG	0,4406		0,0,2203	35	42	39		1492	-7.5	0	10		39	1,8599		0,1,4299	no	missense	LRIT2	NM_001017924.2	180	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	498/551	85981837	1,13005	2203	4300	6503	SO:0001583	missense	340745					integral to membrane		g.chr10:85981837G>A		CCDS31234.1, CCDS60581.1	10q23.2	2013-01-11	2007-06-19	2007-06-19	ENSG00000204033	ENSG00000204033		"Immunoglobulin superfamily / I-set domain containing"	23443	protein-coding gene	gene with protein product			"leucine rich repeat containing 22"	LRRC22			Standard	NM_001017924		Approved	AC022389.4	uc001kcy.3	A6NDA9	OTTHUMG00000018633	ENST00000372113.4:c.1492C>T	10.37:g.85981837G>A	ENSP00000361185:p.Arg498Cys					LRIT2_ENST00000538192.1_Missense_Mutation_p.R508C	p.R498C	NM_001017924.2	NP_001017924.1	A6NDA9	LRIT2_HUMAN			3	1497	-			498					B7ZME6	Missense_Mutation	SNP	ENST00000372113.4	37	c.1492C>T	CCDS31234.1	.	.	.	.	.	.	.	.	.	.	G	6.370	0.436418	0.12104	0.0	1.16E-4	ENSG00000204033	ENST00000372113;ENST00000538192	T;T	0.18810	2.19;2.19	4.84	-7.51	0.01346	.	2.754420	0.00829	N	0.001641	T	0.08268	0.0206	N	0.08118	0	0.09310	N	1	B;B	0.14805	0.0;0.011	B;B	0.04013	0.0;0.001	T	0.17592	-1.0364	10	0.51188	T	0.08	.	0.4567	0.00509	0.2222:0.199:0.2883:0.2905	.	508;498	B7ZME6;A6NDA9	.;LRIT2_HUMAN	C	498;508	ENSP00000361185:R498C;ENSP00000438264:R508C	ENSP00000361185:R498C	R	-	1	0	LRIT2	85971817	0.000000	0.05858	0.000000	0.03702	0.056000	0.15407	-1.420000	0.02457	-1.283000	0.02393	-1.007000	0.02485	CGC		0.637	LRIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049110.4	XM_291697		38	87	0	0	0	0.000374591	0	38	87					A	85981837	G	A	85981837	3	1	14	1	0	0	0	0	1	0	0	0	8948	1087	38	1	164	1	LRIT2	10	85981837	Missense_Mutation	SNP	G	TCGA-CH-5739-01A-11D-1576-08		85981837	49552910	27	572											
MRGPRX3	117195	broad.mit.edu	37	chr11	18159642	18159642	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagagggctctgcaggacaCgcctgaggtggatgaaggtg	9	6	17	9	1	1	3	0	2	1	1	1	5	1	5	2	5	1	2	2	5	1	0	rs551318965		TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr11:18159642C>T	ENST00000396275.2	+	3	1254	c.893C>T	c.(892-894)aCg>aTg	p.T298M		NM_054031.3	NP_473372.3	Q96LB0	MRGX3_HUMAN	MAS-related GPR, member X3	298						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.T298M(1)		NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27						CTGCAGGACACGCCTGAGGTG	0.562																																						ENST00000396275.2																			1	Substitution - Missense(1)	p.T298M(1)	prostate(1)	NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27						c.(892-894)aCg>aTg		MAS-related GPR, member X3							45	48	47					11																	18159642		2200	4292	6492	SO:0001583	missense	117195					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr11:18159642C>T		CCDS7830.1	11p15.1	2013-10-10			ENSG00000179826	ENSG00000179826		"GPCR / Class A : Orphans"	17980	protein-coding gene	gene with protein product		607229				11551509	Standard	NM_054031		Approved	MRGX3	uc001mnu.3	Q96LB0	OTTHUMG00000166435	ENST00000396275.2:c.893C>T	11.37:g.18159642C>T	ENSP00000379571:p.Thr298Met						p.T298M	NM_054031.3	NP_473372.3	Q96LB0	MRGX3_HUMAN			3	1254	+			298					B0M0L1|Q8TDE0|Q8TDE1	Missense_Mutation	SNP	ENST00000396275.2	37	c.893C>T	CCDS7830.1	.	.	.	.	.	.	.	.	.	.	C	8.740	0.918658	0.17982	.	.	ENSG00000179826	ENST00000396275	T	0.24538	1.85	1.3	0.311	0.15831	.	0.912774	0.09241	N	0.829205	T	0.23649	0.0572	M	0.71871	2.18	0.20821	N	0.999841	P	0.40476	0.718	B	0.36335	0.222	T	0.24368	-1.0162	10	0.66056	D	0.02	.	3.3533	0.07160	0.0:0.704:0.0:0.296	.	298	Q96LB0	MRGX3_HUMAN	M	298	ENSP00000379571:T298M	ENSP00000379571:T298M	T	+	2	0	MRGPRX3	18116218	0.000000	0.05858	0.560000	0.28344	0.046000	0.14306	0.332000	0.19751	0.097000	0.17492	0.195000	0.17529	ACG		0.562	MRGPRX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389767.1	NM_054031		10	80	0	0	0	0.000566183	0	10	80					T	18159642	C	T	18159642	3	4	14	1	0	0	0	0	1	0	0	0	9768	536	19	1	895	1	MRGPRX3	11	18159642	Missense_Mutation	SNP	C	TCGA-CH-5739-01A-11D-1576-08		18159642	116846874	28	573											
SCGB2A2	4250	broad.mit.edu	37	chr11	62038408	62038408	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagacaatcaatccacaagtGtctaagactgaatacaaaga	20	7	6	8	0	2	4	1	1	1	3	3	4	3	4	1	0	1	0	1	0	8	2			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr11:62038408G>C	ENST00000227918.2	+	2	173	c.111G>C	c.(109-111)gtG>gtC	p.V37V	SCGB2A2_ENST00000525380.1_Silent_p.V37V	NM_002411.2	NP_002402.1	Q13296	SG2A2_HUMAN	secretoglobin, family 2A, member 2	37								p.V37V(1)		large_intestine(1)|lung(4)|ovary(1)|prostate(1)	7						ATCCACAAGTGTCTAAGACTG	0.418																																						ENST00000525380.1																			1	Substitution - coding silent(1)	p.V37V(1)	prostate(1)	large_intestine(1)|lung(4)|ovary(1)|prostate(1)	7						c.(109-111)gtG>gtC		secretoglobin, family 2A, member 2							107	98	101					11																	62038408		2202	4299	6501	SO:0001819	synonymous_variant	4250					extracellular region	steroid binding	g.chr11:62038408G>C	AF015224	CCDS8018.1	11q13	2011-12-14	2002-03-22	2002-03-22	ENSG00000110484	ENSG00000110484		"Secretoglobins"	7050	protein-coding gene	gene with protein product	"mammaglobin A"	605562	"mammaglobin 1"	MGB1		9488047, 8631025, 22155607	Standard	XM_005274005		Approved	UGB2, MGC71974	uc001ntc.3	Q13296	OTTHUMG00000167509	ENST00000227918.2:c.111G>C	11.37:g.62038408G>C						SCGB2A2_ENST00000227918.2_Silent_p.V37V	p.V37V			Q13296	SG2A2_HUMAN			2	170	+			37					A1A522|Q86WH8	Silent	SNP	ENST00000227918.2	37	c.111G>C	CCDS8018.1																																																																																				0.418	SCGB2A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394860.1	NM_002411		55	128	0	0	0	0.000147903	0	55	128					C	62038408	G	C	62038408	2	2	14	1	0	0	0	0	0	0	0	1	13900	1364	48	5		5	SCGB2A2	11	62038408	Silent	SNP	G	TCGA-CH-5739-01A-11D-1576-08	43878766	62038408	72968108	29	574											
TRIM49	57093	broad.mit.edu	37	chr11	89531568	89531568	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttctcattctgattcttctcTttccgatacatattacagac	9	18	3	11	1	4	2	1	1	4	1	7	3	5	2	1	0	2	0	1	0	3	8	rs560492199	byFrequency	TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr11:89531568T>C	ENST00000329758.1	-	8	1417	c.1089A>G	c.(1087-1089)aaA>aaG	p.K363K	TRIM49_ENST00000532501.2_Silent_p.K286K	NM_020358.2	NP_065091.1	P0CI25	TRI49_HUMAN	tripartite motif containing 49	363	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.					intracellular (GO:0005622)	zinc ion binding (GO:0008270)	p.K363K(3)		breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(1)|lung(14)|prostate(1)|skin(2)|stomach(1)	27		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)				GATTCTTCTCTTTCCGATACA	0.458													c|||	2	0.000399361	8e-04	0	5008	,	,		20193	0.001		0	False		,,,				2504	0					ENST00000329758.1																			3	Substitution - coding silent(3)	p.K363K(3)	endometrium(2)|prostate(1)	breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(1)|lung(14)|prostate(1)|skin(2)|stomach(1)	27						c.(1087-1089)aaA>aaG		tripartite motif containing 49							74	79	77					11																	89531568		2195	4299	6494	SO:0001819	synonymous_variant	57093					intracellular	zinc ion binding	g.chr11:89531568T>C	AB037682	CCDS8287.1	11p11.12-q12	2012-05-21	2011-01-25	2004-11-17	ENSG00000168930	ENSG00000168930		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	13431	protein-coding gene	gene with protein product		606124	"ring finger protein 18", "tripartite motif-containing 49"	RNF18		11018261	Standard	NM_020358		Approved	TRIM49A	uc001pdb.3	P0CI25		ENST00000329758.1:c.1089A>G	11.37:g.89531568T>C						TRIM49_ENST00000532501.2_Silent_p.K286K	p.K363K	NM_020358.2	NP_065091.1	P0CI25	TRI49_HUMAN			8	1417	-		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)	363			B30.2/SPRY.		A0AVR7|A0AVR9|Q6DJV1|Q9NS80	Silent	SNP	ENST00000329758.1	37	c.1089A>G	CCDS8287.1																																																																																				0.458	TRIM49-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395435.1	NM_020358		6	225	0	0	0	3.59834e-05	0	6	225					C	89531568	T	C	89531568	2	2	14	1	0	0	0	0	0	0	0	1	16521	1606	56	4		4	TRIM49	11	89531568	Silent	SNP	T	TCGA-CH-5739-01A-11D-1576-08	27493160	89531568	45474948	30	575											
BTBD11	121551	broad.mit.edu	37	chr12	108008872	108008879	+	Frame_Shift_Del	DEL	ACCCCGAG	ACCCCGAG	-																															tcataaatatccatccgtccAccccgagacccgccattgga																								rs76689600|rs200353697|rs369956661		TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr12:108008872_108008879delACCCCGAG	ENST00000280758.5	+	7	2462_2469	c.1934_1941delACCCCGAG	c.(1933-1941)caccccgagfs	p.HPE645fs	BTBD11_ENST00000490090.2_Frame_Shift_Del_p.HPE645fs|BTBD11_ENST00000420571.2_Frame_Shift_Del_p.HPE645fs|BTBD11_ENST00000357167.4_Frame_Shift_Del_p.HPE182fs|RP11-128P10.1_ENST00000548473.1_RNA	NM_001018072.1	NP_001018082.1	A6QL63	BTBDB_HUMAN	BTB (POZ) domain containing 11	645						integral component of membrane (GO:0016021)				NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(18)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						CCATCCGTCCACCCCGAGACCCGCCATT	0.404																																						ENST00000280758.5																			0				NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(18)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						c.(1933-1941)cfs		BTB (POZ) domain containing 11																																				SO:0001589	frameshift_variant	121551					integral to membrane	DNA binding	g.chr12:108008872_108008879delACCCCGAG	AK091276	CCDS31893.1, CCDS41827.1	12q24.11	2013-10-02			ENSG00000151136	ENSG00000151136		"BTB/POZ domain containing", "Ankyrin repeat domain containing"	23844	protein-coding gene	gene with protein product							Standard	XM_005268645		Approved	FLJ33957, ABTB2B	uc001tmk.1	A6QL63	OTTHUMG00000150413	ENST00000280758.5:c.1934_1941delACCCCGAG	12.37:g.108008872_108008879delACCCCGAG	ENSP00000280758:p.His645fs					RP11-128P10.1_ENST00000548473.1_RNA|BTBD11_ENST00000357167.4_Frame_Shift_Del_p.HPE182fs|BTBD11_ENST00000490090.2_Frame_Shift_Del_p.HPE645fs|BTBD11_ENST00000420571.2_Frame_Shift_Del_p.HPE645fs	p.HPE645fs	NM_001018072.1	NP_001018082.1	A6QL63	BTBDB_HUMAN			7	2462_2469	+			645					A4FU41|B3KXG3|C9J019|C9JK80|E9PHS4|Q3ZTQ4|Q52M89|Q6ZV99|Q8N245	Frame_Shift_Del	DEL	ENST00000280758.5	37	c.1934_1941delACCCCGAG	CCDS31893.1																																																																																				0.404	BTBD11-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318003.1	NM_152322		11	78						11	78	---	---	---	---	-	108008879	ACCCCGAG	-	108008872	7	5	14	1	0	1	0	1	0	0	0	0	1539	159	6	0	2065	0	BTBD11	12	108008872	Frame_Shift_Del	DEL	ACCCCGAG	TCGA-CH-5739-01A-11D-1576-08		108008872	25843023	31	576											
RNF17	56163	broad.mit.edu	37	chr13	25416253	25416253	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctgaaatgactactactagtAttaatgaccagctagttaaa	16	12	6	7	0	0	3	0	3	0	0	0	3	0	3	1	0	3	3	1	0	9	7			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr13:25416253A>G	ENST00000255324.5	+	19	2609	c.2557A>G	c.(2557-2559)Att>Gtt	p.I853V	RNF17_ENST00000381921.1_Missense_Mutation_p.I853V|RNF17_ENST00000339524.3_5'Flank	NM_001184993.1|NM_031277.2	NP_001171922.1|NP_112567.2	Q9BXT8	RNF17_HUMAN	ring finger protein 17	853					multicellular organismal development (GO:0007275)|spermatid development (GO:0007286)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	hydrolase activity, acting on ester bonds (GO:0016788)|nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)	p.I853V(1)		NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6)	36		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)		TACTACTAGTATTAATGACCA	0.343																																						ENST00000255324.5																			1	Substitution - Missense(1)	p.I853V(1)	prostate(1)	NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6)	36						c.(2557-2559)Att>Gtt		ring finger protein 17							147	138	141					13																	25416253		2203	4300	6503	SO:0001583	missense	56163				multicellular organismal development	cytoplasm|nucleus	hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding	g.chr13:25416253A>G	AF285602, AK001907	CCDS9308.2	13q12.13	2013-01-23			ENSG00000132972	ENSG00000132972		"RING-type (C3HC4) zinc fingers", "Tudor domain containing"	10060	protein-coding gene	gene with protein product	"spermatogenesis associated 23"	605793	"tudor domain containing 4"	TDRD4		11279525	Standard	NM_001184993		Approved	Mmip-2, SPATA23, FLJ11045	uc001upr.3	Q9BXT8	OTTHUMG00000016589	ENST00000255324.5:c.2557A>G	13.37:g.25416253A>G	ENSP00000255324:p.Ile853Val					RNF17_ENST00000381921.1_Missense_Mutation_p.I853V	p.I853V	NM_001184993.1|NM_031277.2	NP_001171922.1|NP_112567.2	Q9BXT8	RNF17_HUMAN		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)	19	2609	+		Lung SC(185;0.0225)|Breast(139;0.077)	853					Q5T2J9|Q6P1W3|Q9BXT7|Q9NUY9	Missense_Mutation	SNP	ENST00000255324.5	37	c.2557A>G	CCDS9308.2	.	.	.	.	.	.	.	.	.	.	A	8.723	0.914770	0.17907	.	.	ENSG00000132972	ENST00000255324;ENST00000381921;ENST00000429047;ENST00000418120	T;T;T	0.28895	1.59;1.59;1.59	5.29	2.62	0.31277	Staphylococcal nuclease (SNase-like) (1);	0.231736	0.35207	N	0.003368	T	0.15869	0.0382	N	0.20986	0.625	0.80722	D	1	B;B;B	0.15719	0.005;0.001;0.014	B;B;B	0.16289	0.007;0.003;0.015	T	0.07520	-1.0768	10	0.19147	T	0.46	-13.2712	4.9152	0.13842	0.6735:0.0:0.3265:0.0	.	853;853;853	B7Z7S1;Q9BXT8-5;Q9BXT8	.;.;RNF17_HUMAN	V	853;853;712;177	ENSP00000255324:I853V;ENSP00000371346:I853V;ENSP00000388892:I177V	ENSP00000255324:I853V	I	+	1	0	RNF17	24314253	1.000000	0.71417	1.000000	0.80357	0.762000	0.43233	0.877000	0.28106	0.966000	0.38159	0.477000	0.44152	ATT		0.343	RNF17-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044217.1	NM_031994		55	127	0	0	0	0.000147903	0	55	127					G	25416253	A	G	25416253	3	3	14	1	0	0	0	0	1	0	0	0	13461	449	16	4	2631	4	RNF17	13	25416253	Missense_Mutation	SNP	A	TCGA-CH-5739-01A-11D-1576-08		25416253	89753625	32	577											
LRCH1	23143	broad.mit.edu	37	chr13	47269054	47269054	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ttcatcaggaatttcaaccgGagccttcccttttgggtgac	8	13	9	11	1	3	1	3	1	0	0	4	3	4	3	3	3	2	0	3	3	2	5			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr13:47269054G>T	ENST00000389798.3	+	9	1344	c.1147G>T	c.(1147-1149)Gag>Tag	p.E383*	LRCH1_ENST00000389797.3_Nonsense_Mutation_p.E383*|LRCH1_ENST00000311191.6_Nonsense_Mutation_p.E383*	NM_015116.2	NP_055931	Q9Y2L9	LRCH1_HUMAN	leucine-rich repeats and calponin homology (CH) domain containing 1	383								p.E383*(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26		all_lung(13;5.61e-07)|Lung NSC(96;0.000117)|Breast(56;0.000141)|Prostate(109;0.0029)|Lung SC(185;0.0367)|Myeloproliferative disorder(33;0.0505)|Hepatocellular(98;0.0556)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000123)		ATTTCAACCGGAGCCTTCCCT	0.408																																						ENST00000311191.6																			1	Substitution - Nonsense(1)	p.E383*(1)	prostate(1)	breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26						c.(1147-1149)Gag>Tag		leucine-rich repeats and calponin homology (CH) domain containing 1							87	91	90					13																	47269054		2203	4300	6503	SO:0001587	stop_gained	23143							g.chr13:47269054G>T	AB023233	CCDS31972.1, CCDS53865.1, CCDS53866.1	13q14.11	2008-02-05	2004-05-27	2004-05-28	ENSG00000136141	ENSG00000136141			20309	protein-coding gene	gene with protein product		610368	"calponin homology (CH) domain containing 1"	CHDC1		10231032	Standard	NM_015116		Approved	KIAA1016	uc001vbk.3	Q9Y2L9	OTTHUMG00000016877	ENST00000389798.3:c.1147G>T	13.37:g.47269054G>T	ENSP00000374448:p.Glu383*					LRCH1_ENST00000389797.3_Nonsense_Mutation_p.E383*|LRCH1_ENST00000389798.3_Nonsense_Mutation_p.E383*	p.E383*	NM_001164213.1	NP_001157685.1	Q9Y2L9	LRCH1_HUMAN	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000123)	9	1376	+		all_lung(13;5.61e-07)|Lung NSC(96;0.000117)|Breast(56;0.000141)|Prostate(109;0.0029)|Lung SC(185;0.0367)|Myeloproliferative disorder(33;0.0505)|Hepatocellular(98;0.0556)	383					B7ZLL5|F8W6F0|Q17R43|Q2KHR1|Q5TBU9|Q7Z5F6|Q7Z5F7	Nonsense_Mutation	SNP	ENST00000389798.3	37	c.1147G>T	CCDS31972.1	.	.	.	.	.	.	.	.	.	.	G	34	5.400124	0.96030	.	.	ENSG00000136141	ENST00000311191;ENST00000389798;ENST00000389797	.	.	.	5.68	2.22	0.28083	.	0.729179	0.12787	N	0.439151	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.30854	T	0.27	-2.2636	9.8229	0.40894	0.1929:0.0:0.8071:0.0	.	.	.	.	X	383	.	ENSP00000308493:E383X	E	+	1	0	LRCH1	46167055	0.003000	0.15002	0.005000	0.12908	0.820000	0.46376	0.499000	0.22546	0.179000	0.19938	-0.300000	0.09419	GAG		0.408	LRCH1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000044824.2	NM_015116		84	82	1	0	7.31121e-38	0.000147903	1.70089e-36	84	82					T	47269054	G	T	47269054	4	4	14	1	0	0	0	0	0	1	0	0	8932	1175	41	5	1181	5	LRCH1	13	47269054	Nonsense_Mutation	SNP	G	TCGA-CH-5739-01A-11D-1576-08	21852801	47269054	67900824	33	578											
SLITRK5	26050	broad.mit.edu	37	chr13	88328403	88328403	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggattggttggacagcatcTcctattcagccctggtgggg	7	11	14	9	0	2	0	1	0	1	0	3	2	2	2	2	6	2	2	2	6	1	4			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr13:88328403T>C	ENST00000325089.6	+	2	979	c.760T>C	c.(760-762)Tcc>Ccc	p.S254P	SLITRK5_ENST00000400028.3_Intron	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5	254	LRRCT 1.				adult behavior (GO:0030534)|axonogenesis (GO:0007409)|cardiovascular system development (GO:0072358)|dendrite morphogenesis (GO:0048813)|grooming behavior (GO:0007625)|response to xenobiotic stimulus (GO:0009410)|skin development (GO:0043588)|striatum development (GO:0021756)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)		p.S254P(1)		breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81	all_neural(89;0.101)|Medulloblastoma(90;0.163)					GGACAGCATCTCCTATTCAGC	0.507																																						ENST00000325089.6																			1	Substitution - Missense(1)	p.S254P(1)	prostate(1)	breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81						c.(760-762)Tcc>Ccc		SLIT and NTRK-like family, member 5							106	106	106					13																	88328403		2203	4300	6503	SO:0001583	missense	26050					integral to membrane		g.chr13:88328403T>C	AB020725	CCDS9465.1	13q31.1	2004-04-16	2004-01-08		ENSG00000165300	ENSG00000165300			20295	protein-coding gene	gene with protein product		609680	"leucine rich repeat containing 11"	LRRC11		10048485, 14557068	Standard	NM_015567		Approved	bA364G4.2, KIAA0918	uc001vln.3	O94991	OTTHUMG00000017167	ENST00000325089.6:c.760T>C	13.37:g.88328403T>C	ENSP00000366283:p.Ser254Pro					SLITRK5_ENST00000400028.3_Intron	p.S254P	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN			2	979	+	all_neural(89;0.101)|Medulloblastoma(90;0.163)		254			LRRCT 1.		B3KNB8|B4DSH5|Q5VT81	Missense_Mutation	SNP	ENST00000325089.6	37	c.760T>C	CCDS9465.1	.	.	.	.	.	.	.	.	.	.	T	0.011	-1.701923	0.00725	.	.	ENSG00000165300	ENST00000325089	T	0.52754	0.65	5.61	4.41	0.53225	Cysteine-rich flanking region, C-terminal (1);	0.128132	0.53938	D	0.000051	T	0.18964	0.0455	N	0.01482	-0.84	0.80722	D	1	B	0.13145	0.007	B	0.14023	0.01	T	0.05500	-1.0881	9	.	.	.	-17.4076	10.1719	0.42915	0.1494:0.0:0.0:0.8506	.	254	O94991	SLIK5_HUMAN	P	254	ENSP00000366283:S254P	.	S	+	1	0	SLITRK5	87126404	1.000000	0.71417	1.000000	0.80357	0.874000	0.50279	3.547000	0.53663	0.933000	0.37291	-0.669000	0.03829	TCC		0.507	SLITRK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045416.3			75	242	0	0	0	0.000147903	0	75	242					C	88328403	T	C	88328403	3	2	14	1	0	0	0	0	1	0	0	0	14746	1551	54	4	762	4	SLITRK5	13	88328403	Missense_Mutation	SNP	T	TCGA-CH-5739-01A-11D-1576-08	41059349	88328403	26841475	34	579											
PAPLN	89932	broad.mit.edu	37	chr14	73731013	73731013	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcagcacccggccaggccgcGactcccagaagatccaactt	10	4	10	17	3	0	2	0	0	0	2	2	3	2	2	5	2	2	2	5	2	2	1	rs145618706	byFrequency	TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr14:73731013G>A	ENST00000554301.1	+	20	3119	c.2956G>A	c.(2956-2958)Gac>Aac	p.D986N	PAPLN_ENST00000427855.1_Missense_Mutation_p.D986N|PAPLN_ENST00000340738.5_Missense_Mutation_p.D959N|PAPLN_ENST00000554314.1_3'UTR|PAPLN_ENST00000381166.3_Missense_Mutation_p.D986N|PAPLN_ENST00000555445.1_Missense_Mutation_p.D970N			O95428	PPN_HUMAN	papilin, proteoglycan-like sulfated glycoprotein	986	Ig-like C2-type 1.					basement membrane (GO:0005604)	metalloendopeptidase activity (GO:0004222)|serine-type endopeptidase inhibitor activity (GO:0004867)|zinc ion binding (GO:0008270)	p.D986N(1)|p.D959N(1)		NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(3)	42				BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.0468)		GCCAGGCCGCGACTCCCAGAA	0.647													G|||	7	0.00139776	0	0	5008	,	,		15827	0		0.001	False		,,,				2504	0.0061					ENST00000427855.1																			2	Substitution - Missense(2)	p.D986N(1)|p.D959N(1)	prostate(2)	NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(3)	42						c.(2956-2958)Gac>Aac		papilin, proteoglycan-like sulfated glycoprotein		G	ASN/ASP	1,4405	2.1+/-5.4	0,1,2202	61	65	63		2875	-1.5	0	14	dbSNP_134	63	4,8596	3.7+/-12.6	0,4,4296	yes	missense	PAPLN	NM_173462.3	23	0,5,6498	AA,AG,GG		0.0465,0.0227,0.0384	benign	959/1252	73731013	5,13001	2203	4300	6503	SO:0001583	missense	89932					proteinaceous extracellular matrix	metalloendopeptidase activity|serine-type endopeptidase inhibitor activity|zinc ion binding	g.chr14:73731013G>A	BC042057	CCDS32114.1	14q24.2	2013-01-11				ENSG00000100767		"Immunoglobulin superfamily / I-set domain containing"	19262	protein-coding gene	gene with protein product						11076767, 19734141	Standard	NM_173462		Approved	MGC50452	uc001xnw.4	O95428		ENST00000554301.1:c.2956G>A	14.37:g.73731013G>A	ENSP00000451803:p.Asp986Asn					PAPLN_ENST00000554314.1_3'UTR|PAPLN_ENST00000381166.3_Missense_Mutation_p.D986N|PAPLN_ENST00000340738.5_Missense_Mutation_p.D959N|PAPLN_ENST00000555445.1_Missense_Mutation_p.D970N|PAPLN_ENST00000554301.1_Missense_Mutation_p.D986N	p.D986N			O95428	PPN_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.0468)	21	3058	+			986			Ig-like C2-type 1.		B4DES8|B4DGE6|Q659F2|Q6UXJ4|Q6ZNM1|Q6ZUJ0|Q7Z681|Q8IVU0	Missense_Mutation	SNP	ENST00000554301.1	37	c.2956G>A		.	.	.	.	.	.	.	.	.	.	G	10.76	1.440250	0.25900	2.27E-4	4.65E-4	ENSG00000100767	ENST00000340738;ENST00000427855;ENST00000381166;ENST00000554301;ENST00000555445	T;T;T;T;T	0.67698	-0.28;-0.28;-0.28;-0.28;-0.28	4.08	-1.51	0.08664	Immunoglobulin I-set (1);Immunoglobulin-like (1);	.	.	.	.	T	0.52468	0.1736	L	0.49350	1.555	0.09310	N	1	B;B;B;B;B	0.18310	0.009;0.027;0.021;0.016;0.021	B;B;B;B;B	0.13407	0.004;0.007;0.009;0.009;0.006	T	0.49437	-0.8940	9	0.66056	D	0.02	.	1.6888	0.02847	0.2949:0.2259:0.3641:0.1151	.	970;986;986;185;959	O95428-5;O95428;O95428-4;O95428-2;O95428-6	.;PPN_HUMAN;.;.;.	N	959;986;986;986;970	ENSP00000345395:D959N;ENSP00000403403:D986N;ENSP00000370558:D986N;ENSP00000451803:D986N;ENSP00000451729:D970N	ENSP00000345395:D959N	D	+	1	0	PAPLN	72800766	0.000000	0.05858	0.000000	0.03702	0.033000	0.12548	0.536000	0.23129	-0.092000	0.12417	-1.020000	0.02445	GAC		0.647	PAPLN-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000413182.1	NM_173462		16	38	0	0	0	0.00047179	0	16	38					A	73731013	G	A	73731013	3	1	14	1	0	0	0	0	1	0	0	0	11428	1058	37	2	2949	2	PAPLN	14	73731013	Missense_Mutation	SNP	G	TCGA-CH-5739-01A-11D-1576-08		73731013	33618527	35	580											
ALDH1A2	8854	broad.mit.edu	37	chr15	58306166	58306166	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	accaagagagaaagccaggcGggctgcctgcactgctttgt	10	7	13	11	1	0	2	0	0	0	2	0	3	0	2	3	2	4	3	3	2	2	1			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr15:58306166G>A	ENST00000249750.4	-	3	1020	c.253C>T	c.(253-255)Cgc>Tgc	p.R85C	ALDH1A2_ENST00000558231.1_Missense_Mutation_p.R56C|ALDH1A2_ENST00000559517.1_5'UTR|ALDH1A2_ENST00000347587.3_Missense_Mutation_p.R85C|ALDH1A2_ENST00000537372.1_Missense_Mutation_p.R64C	NM_003888.3	NP_003879.2	O94788	AL1A2_HUMAN	aldehyde dehydrogenase 1 family, member A2	85					9-cis-retinoic acid biosynthetic process (GO:0042904)|anterior/posterior pattern specification (GO:0009952)|blood vessel development (GO:0001568)|cardiac muscle tissue development (GO:0048738)|cellular response to retinoic acid (GO:0071300)|determination of bilateral symmetry (GO:0009855)|embryonic camera-type eye development (GO:0031076)|embryonic digestive tract development (GO:0048566)|embryonic forelimb morphogenesis (GO:0035115)|face development (GO:0060324)|heart morphogenesis (GO:0003007)|hindbrain development (GO:0030902)|kidney development (GO:0001822)|liver development (GO:0001889)|lung development (GO:0030324)|midgut development (GO:0007494)|morphogenesis of embryonic epithelium (GO:0016331)|negative regulation of cell proliferation (GO:0008285)|neural crest cell development (GO:0014032)|neural tube development (GO:0021915)|neuron differentiation (GO:0030182)|pancreas development (GO:0031016)|pituitary gland development (GO:0021983)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|proximal/distal pattern formation (GO:0009954)|regulation of endothelial cell proliferation (GO:0001936)|response to cytokine (GO:0034097)|response to estradiol (GO:0032355)|response to vitamin A (GO:0033189)|retinal metabolic process (GO:0042574)|retinoic acid metabolic process (GO:0042573)|retinoic acid receptor signaling pathway (GO:0048384)|retinol metabolic process (GO:0042572)|ureter maturation (GO:0035799)|vitamin A metabolic process (GO:0006776)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|perinuclear region of cytoplasm (GO:0048471)	3-chloroallyl aldehyde dehydrogenase activity (GO:0004028)|retinal binding (GO:0016918)|retinal dehydrogenase activity (GO:0001758)	p.R85S(1)		NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(15)|prostate(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(80;0.152)|all cancers(107;0.18)	Tretinoin(DB00755)|Vitamin A(DB00162)	AAAGCCAGGCGGGCTGCCTGC	0.498																																						ENST00000249750.4																			1	Substitution - Missense(1)	p.R85S(1)	lung(1)	NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(15)|prostate(1)|upper_aerodigestive_tract(1)	31						c.(253-255)Cgc>Tgc		aldehyde dehydrogenase 1 family, member A2	NADH(DB00157)|Tretinoin(DB00755)|Vitamin A(DB00162)						192	211	204					15																	58306166		2192	4292	6484	SO:0001583	missense	8854				negative regulation of cell proliferation|neural tube development|response to cytokine stimulus	nucleus	3-chloroallyl aldehyde dehydrogenase activity|retinal binding|retinal dehydrogenase activity	g.chr15:58306166G>A	AB015228	CCDS10163.1, CCDS10164.1, CCDS45266.1, CCDS55968.1	15q21.2	2011-02-18			ENSG00000128918	ENSG00000128918		"Aldehyde dehydrogenases"	15472	protein-coding gene	gene with protein product	"retinaldehyde dehydrogenase 2"	603687				9819382	Standard	NM_003888		Approved	RALDH2	uc002aex.3	O94788	OTTHUMG00000132624	ENST00000249750.4:c.253C>T	15.37:g.58306166G>A	ENSP00000249750:p.Arg85Cys					ALDH1A2_ENST00000537372.1_Missense_Mutation_p.R64C|ALDH1A2_ENST00000558231.1_Missense_Mutation_p.R56C|ALDH1A2_ENST00000347587.3_Missense_Mutation_p.R85C|ALDH1A2_ENST00000559517.1_5'UTR	p.R85C	NM_003888.3	NP_003879.2	O94788	AL1A2_HUMAN		GBM - Glioblastoma multiforme(80;0.152)|all cancers(107;0.18)	3	1020	-			85					B3KY52|B4DZR2|F5H2Y9|H0YM00|Q2PJS6|Q8NHQ4|Q9UBR8|Q9UFY0	Missense_Mutation	SNP	ENST00000249750.4	37	c.253C>T	CCDS10163.1	.	.	.	.	.	.	.	.	.	.	G	15.41	2.824484	0.50739	.	.	ENSG00000128918	ENST00000249750;ENST00000543386;ENST00000347587;ENST00000537372	T;T;T	0.78126	-1.15;2.15;-1.15	4.69	3.77	0.43336	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, N-terminal (1);Aldehyde/histidinol dehydrogenase (1);	0.000000	0.85682	D	0.000000	D	0.90875	0.7133	H	0.96547	3.84	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.81914	0.973;0.954;0.99;0.995	D	0.92736	0.6204	10	0.87932	D	0	.	12.2655	0.54676	0.0:0.0:0.6916:0.3084	.	56;64;85;85	B4DH89;F5H2Y9;O94788-2;O94788	.;.;.;AL1A2_HUMAN	C	85;56;85;64	ENSP00000249750:R85C;ENSP00000309623:R85C;ENSP00000438296:R64C	ENSP00000249750:R85C	R	-	1	0	ALDH1A2	56093458	1.000000	0.71417	1.000000	0.80357	0.093000	0.18481	7.298000	0.78815	1.180000	0.42898	-0.169000	0.13324	CGC		0.498	ALDH1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255869.1			7	547	0	0	0	0.000274275	0	7	547					A	58306166	G	A	58306166	3	1	14	1	0	0	0	0	1	0	0	0	491	1116	39	2	1347	2	ALDH1A2	15	58306166	Missense_Mutation	SNP	G	TCGA-CH-5739-01A-11D-1576-08		58306166	44225226	36	581											
IGDCC4	57722	broad.mit.edu	37	chr15	65685846	65685846	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aagctgtgtctcatttcctcGcacctcagtagagaaaatct	11	12	7	11	1	3	1	2	0	2	1	6	2	4	1	2	0	1	3	2	0	4	2	rs138576438		TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr15:65685846G>A	ENST00000352385.2	-	10	1947	c.1738C>T	c.(1738-1740)Cga>Tga	p.R580*		NM_020962.1	NP_066013.1	Q8TDY8	IGDC4_HUMAN	immunoglobulin superfamily, DCC subclass, member 4	580	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.R580*(1)		NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	44						TCATTTCCTCGCACCTCAGTA	0.552																																						ENST00000352385.2																			1	Substitution - Nonsense(1)	p.R580*(1)	prostate(1)	NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	44						c.(1738-1740)Cga>Tga		immunoglobulin superfamily, DCC subclass, member 4		G	stop/ARG	0,4402		0,0,2201	90	79	83		1738	2.3	1	15	dbSNP_134	83	1,8597	1.2+/-3.3	0,1,4298	no	stop-gained	IGDCC4	NM_020962.1		0,1,6499	AA,AG,GG		0.0116,0.0,0.0077		580/1251	65685846	1,12999	2201	4299	6500	SO:0001587	stop_gained	57722					integral to membrane|plasma membrane		g.chr15:65685846G>A		CCDS10206.1	15q22.31	2013-02-11			ENSG00000103742	ENSG00000103742		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	13770	protein-coding gene	gene with protein product	"likely ortholog of mouse neighbor of Punc E11"						Standard	NM_020962		Approved	NOPE, LOC57722	uc002aou.1	Q8TDY8	OTTHUMG00000133136	ENST00000352385.2:c.1738C>T	15.37:g.65685846G>A	ENSP00000319623:p.Arg580*						p.R580*	NM_020962.1	NP_066013.1	Q8TDY8	IGDC4_HUMAN			10	1947	-			580			Fibronectin type-III 2.		Q9HCE4	Nonsense_Mutation	SNP	ENST00000352385.2	37	c.1738C>T	CCDS10206.1	.	.	.	.	.	.	.	.	.	.	G	39	7.460534	0.98299	0.0	1.16E-4	ENSG00000103742	ENST00000352385;ENST00000356152	.	.	.	4.63	2.3	0.28687	.	0.627117	0.16751	N	0.201002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.28530	T	0.3	-3.2918	5.8376	0.18615	0.2362:0.2095:0.5543:0.0	.	.	.	.	X	580;309	.	ENSP00000319623:R580X	R	-	1	2	IGDCC4	63472899	0.003000	0.15002	0.990000	0.47175	0.833000	0.47200	1.036000	0.30228	1.075000	0.40932	0.491000	0.48974	CGA		0.552	IGDCC4-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000256825.2	NM_020962		32	83	0	0	0	0.00058488	0	32	83					A	65685846	G	A	65685846	4	1	14	1	0	0	0	0	0	1	0	0	7569	1095	38	1	2058	1	IGDCC4	15	65685846	Nonsense_Mutation	SNP	G	TCGA-CH-5739-01A-11D-1576-08	7379680	65685846	36845546	37	582											
STAT3	6774	broad.mit.edu	37	chr17	40474448	40474448	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttatagcccatgatgatttcAgcaaatgacatgttgttcag	12	14	8	7	0	2	3	2	3	0	0	2	3	2	3	1	0	2	3	1	0	3	5			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr17:40474448A>G	ENST00000264657.5	-	21	2265	c.1953T>C	c.(1951-1953)gcT>gcC	p.A651A	STAT3_ENST00000389272.3_Silent_p.A553A|STAT3_ENST00000404395.3_Silent_p.A651A|STAT3_ENST00000585517.1_Silent_p.A651A|STAT3_ENST00000588969.1_Silent_p.A651A	NM_003150.3|NM_139276.2	NP_003141.2|NP_644805.1	P40763	STAT3_HUMAN	signal transducer and activator of transcription 3 (acute-phase response factor)	651	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				acute-phase response (GO:0006953)|astrocyte differentiation (GO:0048708)|cell proliferation (GO:0008283)|cellular component movement (GO:0006928)|cellular response to hormone stimulus (GO:0032870)|cytokine-mediated signaling pathway (GO:0019221)|eating behavior (GO:0042755)|eye photoreceptor cell differentiation (GO:0001754)|glucose homeostasis (GO:0042593)|growth hormone receptor signaling pathway (GO:0060396)|interleukin-6-mediated signaling pathway (GO:0070102)|intracellular receptor signaling pathway (GO:0030522)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|negative regulation of cell death (GO:0060548)|negative regulation of cell proliferation (GO:0008285)|negative regulation of glycolytic process (GO:0045820)|negative regulation of neuron migration (GO:2001223)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphorylation (GO:0016310)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein import into nucleus (GO:0006606)|radial glial cell differentiation (GO:0060019)|regulation of multicellular organism growth (GO:0040014)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|sexual reproduction (GO:0019953)|signal transduction (GO:0007165)|stem cell maintenance (GO:0019827)|temperature homeostasis (GO:0001659)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein dimerization activity (GO:0046983)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|RNA polymerase II repressing transcription factor binding (GO:0001103)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)	p.A651A(1)		breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		all_cancers(22;1.39e-06)|all_epithelial(22;2.95e-05)|Breast(137;0.000135)		BRCA - Breast invasive adenocarcinoma(366;0.139)		TGATGATTTCAGCAAATGACA	0.473									Hyperimmunoglobulin E Recurrent Infection Syndrome																													ENST00000264657.5																			1	Substitution - coding silent(1)	p.A651A(1)	prostate(1)	breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						c.(1951-1953)gcT>gcC		signal transducer and activator of transcription 3 (acute-phase response factor)							262	228	240					17																	40474448		2203	4300	6503	SO:0001819	synonymous_variant	6774	Hyperimmunoglobulin E Recurrent Infection Syndrome	Familial Cancer Database	HIES, Hyper IgE syndrome, autosomal dominant (Job syndrome) / recessive	cellular component movement|eating behavior|eye photoreceptor cell differentiation|glucose homeostasis|interleukin-6-mediated signaling pathway|interspecies interaction between organisms|JAK-STAT cascade involved in growth hormone signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|protein import into nucleus|response to estradiol stimulus|sexual reproduction|temperature homeostasis	cytosol|nucleus|plasma membrane	calcium ion binding|ligand-regulated transcription factor activity|protein dimerization activity|protein kinase binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription factor binding|transcription regulatory region DNA binding	g.chr17:40474448A>G	BC014482	CCDS32656.1, CCDS32657.1, CCDS59288.1	17q21	2014-09-17			ENSG00000168610	ENSG00000168610		"SH2 domain containing"	11364	protein-coding gene	gene with protein product		102582				7512451	Standard	NM_139276		Approved	APRF	uc002hzl.1	P40763	OTTHUMG00000150645	ENST00000264657.5:c.1953T>C	17.37:g.40474448A>G						STAT3_ENST00000404395.3_Silent_p.A651A|STAT3_ENST00000389272.3_Silent_p.A553A|STAT3_ENST00000588969.1_Silent_p.A651A|STAT3_ENST00000585517.1_Silent_p.A651A	p.A651A	NM_003150.3|NM_139276.2	NP_003141.2|NP_644805.1	P40763	STAT3_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.139)	21	2265	-		all_cancers(22;1.39e-06)|all_epithelial(22;2.95e-05)|Breast(137;0.000135)	651			SH2.		A8K7B8|K7ENL3|O14916|Q9BW54	Silent	SNP	ENST00000264657.5	37	c.1953T>C	CCDS32656.1																																																																																				0.473	STAT3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319353.3	NM_139276, NM_003150		98	239	0	0	0	0.000147903	0	98	239					G	40474448	A	G	40474448	2	3	14	1	0	0	0	0	0	0	0	1	15265	175	7	4		4	STAT3	17	40474448	Silent	SNP	A	TCGA-CH-5739-01A-11D-1576-08		40474448	40720762	38	583											
COL1A1	1277	broad.mit.edu	37	chr17	48264184	48264184	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccggtagtagcggccaccatCgtgagccttctcttgaggtg	6	10	13	12	3	1	2	0	2	1	0	3	2	1	2	4	3	2	2	4	3	2	4			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr17:48264184C>T	ENST00000225964.5	-	48	3749	c.3631G>A	c.(3631-3633)Gat>Aat	p.D1211N		NM_000088.3	NP_000079	P02452	CO1A1_HUMAN	collagen, type I, alpha 1	1211	Nonhelical region (C-terminal).				blood coagulation (GO:0007596)|blood vessel development (GO:0001568)|bone trabecula formation (GO:0060346)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|cellular response to amino acid stimulus (GO:0071230)|cellular response to mechanical stimulus (GO:0071260)|cellular response to retinoic acid (GO:0071300)|cellular response to transforming growth factor beta stimulus (GO:0071560)|collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|embryonic skeletal system development (GO:0048706)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|face morphogenesis (GO:0060325)|intramembranous ossification (GO:0001957)|leukocyte migration (GO:0050900)|negative regulation of cell-substrate adhesion (GO:0010812)|osteoblast differentiation (GO:0001649)|platelet activation (GO:0030168)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of transcription, DNA-templated (GO:0045893)|protein heterotrimerization (GO:0070208)|protein localization to nucleus (GO:0034504)|protein transport (GO:0015031)|response to cAMP (GO:0051591)|response to corticosteroid (GO:0031960)|response to estradiol (GO:0032355)|response to hydrogen peroxide (GO:0042542)|response to nutrient (GO:0007584)|response to peptide hormone (GO:0043434)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|skin morphogenesis (GO:0043589)|tooth mineralization (GO:0034505)|visual perception (GO:0007601)	collagen type I trimer (GO:0005584)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	extracellular matrix structural constituent (GO:0005201)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)	p.D1211N(1)	COL1A1/PDGFB(429)	NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	71					Collagenase(DB00048)	CGGCCACCATCGTGAGCCTTC	0.637			T	"PDGFB, USP6"	"dermatofibrosarcoma protuberans, aneurysmal bone cyst "		Osteogenesis imperfecta																															ENST00000225964.5				Dom	yes		17	17q21.31-q22	1277	T	"collagen, type I, alpha 1"	yes	Osteogenesis imperfecta	M	"PDGFB, USP6"		"dermatofibrosarcoma protuberans, aneurysmal bone cyst "	COL1A1/PDGFB(429)	1	Substitution - Missense(1)	p.D1211N(1)	prostate(1)	NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	71						c.(3631-3633)Gat>Aat		collagen, type I, alpha 1	Collagenase(DB00048)|Palifermin(DB00039)						108	97	101					17																	48264184		2203	4300	6503	SO:0001583	missense	1277				axon guidance|blood vessel development|collagen biosynthetic process|collagen fibril organization|embryonic skeletal system development|leukocyte migration|platelet activation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|protein localization to nucleus|sensory perception of sound|skin morphogenesis|tooth mineralization|visual perception	collagen type I|extracellular space|plasma membrane	identical protein binding|platelet-derived growth factor binding	g.chr17:48264184C>T	Z74615	CCDS11561.1	17q21.33	2014-09-17			ENSG00000108821	ENSG00000108821		"Collagens"	2197	protein-coding gene	gene with protein product		120150				3178743, 2857713	Standard	NM_000088		Approved	OI4	uc002iqm.3	P02452	OTTHUMG00000148674	ENST00000225964.5:c.3631G>A	17.37:g.48264184C>T	ENSP00000225964:p.Asp1211Asn						p.D1211N	NM_000088.3	NP_000079.2	P02452	CO1A1_HUMAN			48	3749	-			1211			Nonhelical region (C-terminal).		O76045|P78441|Q13896|Q13902|Q13903|Q14037|Q14992|Q15176|Q15201|Q16050|Q59F64|Q7KZ30|Q7KZ34|Q8IVI5|Q8N473|Q9UML6|Q9UMM7	Missense_Mutation	SNP	ENST00000225964.5	37	c.3631G>A	CCDS11561.1	.	.	.	.	.	.	.	.	.	.	C	15.25	2.776835	0.49786	.	.	ENSG00000108821	ENST00000225964	D	0.89681	-2.55	3.88	3.88	0.44766	.	0.000000	0.85682	D	0.000000	D	0.94588	0.8256	M	0.88105	2.93	0.58432	D	0.999996	D	0.69078	0.997	D	0.74348	0.983	D	0.94416	0.7636	10	0.38643	T	0.18	.	14.7474	0.69499	0.0:1.0:0.0:0.0	.	1211	P02452	CO1A1_HUMAN	N	1211	ENSP00000225964:D1211N	ENSP00000225964:D1211N	D	-	1	0	COL1A1	45619183	0.959000	0.32827	0.998000	0.56505	0.285000	0.27093	5.612000	0.67681	1.984000	0.57885	0.313000	0.20887	GAT		0.637	COL1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309036.2			45	122	0	0	0	0.000147903	0	45	122					T	48264184	C	T	48264184	3	4	14	1	0	0	0	0	1	0	0	0	3677	884	31	2	779	2	COL1A1	17	48264184	Missense_Mutation	SNP	C	TCGA-CH-5739-01A-11D-1576-08	7789736	48264184	32931026	39	584											
GAA	2548	broad.mit.edu	37	chr17	78079689	78079689	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccggcagctggacggccgcGtgctgtgagttctgggctct	3	9	17	12	4	2	1	0	1	2	0	2	2	2	2	2	4	2	5	2	4	0	1	rs145866792		TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr17:78079689G>T	ENST00000302262.3	+	3	907	c.688G>T	c.(688-690)Gtg>Ttg	p.V230L	GAA_ENST00000390015.3_Missense_Mutation_p.V230L	NM_000152.3	NP_000143.2	P10253	LYAG_HUMAN	glucosidase, alpha; acid	230					cardiac muscle contraction (GO:0060048)|diaphragm contraction (GO:0002086)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|heart morphogenesis (GO:0003007)|locomotory behavior (GO:0007626)|lysosome organization (GO:0007040)|maltose metabolic process (GO:0000023)|muscle cell cellular homeostasis (GO:0046716)|neuromuscular process controlling balance (GO:0050885)|neuromuscular process controlling posture (GO:0050884)|regulation of the force of heart contraction (GO:0002026)|sucrose metabolic process (GO:0005985)|tissue development (GO:0009888)|vacuolar sequestering (GO:0043181)	extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)	alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|maltose alpha-glucosidase activity (GO:0032450)	p.V230L(1)		autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(6)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	21	all_neural(118;0.117)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.139)		Acarbose(DB00284)|Miglitol(DB00491)	GGACGGCCGCGTGCTGTGAGT	0.662																																						ENST00000302262.3																			1	Substitution - Missense(1)	p.V230L(1)	prostate(1)	autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(6)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	21						c.(688-690)Gtg>Ttg		glucosidase, alpha; acid	Acarbose(DB00284)						36	33	34					17																	78079689		2202	4300	6502	SO:0001583	missense	2548				cardiac muscle contraction|diaphragm contraction|glycogen catabolic process|lysosome organization|tongue morphogenesis|vacuolar sequestering|ventricular cardiac muscle tissue morphogenesis	lysosomal membrane	carbohydrate binding|maltose alpha-glucosidase activity	g.chr17:78079689G>T		CCDS32760.1	17q25.2-q25.3	2014-09-17	2008-08-01				3.2.1.20		4065	protein-coding gene	gene with protein product	"Pompe disease", "glycogen storage disease type II"	606800					Standard	NM_000152		Approved		uc002jxq.3	P10253		ENST00000302262.3:c.688G>T	17.37:g.78079689G>T	ENSP00000305692:p.Val230Leu					GAA_ENST00000390015.3_Missense_Mutation_p.V230L	p.V230L	NM_000152.3	NP_000143.2	P10253	LYAG_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.139)		3	907	+	all_neural(118;0.117)		230					Q09GN4|Q14351|Q16302|Q8IWE7	Missense_Mutation	SNP	ENST00000302262.3	37	c.688G>T	CCDS32760.1	.	.	.	.	.	.	.	.	.	.	G	15.91	2.970961	0.53614	.	.	ENSG00000171298	ENST00000302262;ENST00000390015	D;D	0.83837	-1.77;-1.77	5.15	4.16	0.48862	Glycoside hydrolase-type carbohydrate-binding (1);	0.140625	0.47852	N	0.000213	D	0.87873	0.6287	M	0.92604	3.325	0.40072	D	0.976023	D	0.58970	0.984	P	0.49085	0.6	D	0.88455	0.3051	10	0.56958	D	0.05	-34.7005	8.294	0.31973	0.0794:0.0:0.7636:0.1569	.	230	P10253	LYAG_HUMAN	L	230	ENSP00000305692:V230L;ENSP00000374665:V230L	ENSP00000305692:V230L	V	+	1	0	GAA	75694284	1.000000	0.71417	0.839000	0.33178	0.022000	0.10575	6.308000	0.72820	1.134000	0.42165	-0.182000	0.12963	GTG		0.662	GAA-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437441.1			22	36	1	0	7.92952e-12	0.000586117	1.71528e-10	22	36					T	78079689	G	T	78079689	3	4	14	1	0	0	0	0	1	0	0	0	6147	1145	40	5	694	5	GAA	17	78079689	Missense_Mutation	SNP	G	TCGA-CH-5739-01A-11D-1576-08	29815505	78079689	3115521	40	585											
SKA1	220134	broad.mit.edu	37	chr18	47906549	47906549	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaataggagatgagatcattGtaataaatgaacttctaaat	19	12	7	3	0	2	3	1	2	1	2	2	5	2	3	0	1	1	1	0	1	8	6			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr18:47906549G>A	ENST00000285116.3	+	3	353	c.142G>A	c.(142-144)Gta>Ata	p.V48I	SKA1_ENST00000417656.2_Missense_Mutation_p.V48I|SKA1_ENST00000488454.1_Intron|SKA1_ENST00000398452.2_Missense_Mutation_p.V48I	NM_001039535.2|NM_145060.3	NP_001034624.1|NP_659497.1	Q96BD8	SKA1_HUMAN	spindle and kinetochore associated complex subunit 1	48					cell division (GO:0051301)|chromosome segregation (GO:0007059)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|regulation of microtubule polymerization or depolymerization (GO:0031110)	condensed chromosome outer kinetochore (GO:0000940)|cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)|spindle microtubule (GO:0005876)	microtubule binding (GO:0008017)	p.V48I(1)		breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(6)|ovary(1)|prostate(1)	13						TGAGATCATTGTAATAAATGA	0.289																																						ENST00000285116.3																			1	Substitution - Missense(1)	p.V48I(1)	prostate(1)	breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(6)|ovary(1)|prostate(1)	13						c.(142-144)Gta>Ata		spindle and kinetochore associated complex subunit 1							49	58	55					18																	47906549		2195	4279	6474	SO:0001583	missense	220134				cell division|chromosome segregation|mitotic anaphase|mitotic prometaphase|regulation of microtubule polymerization or depolymerization	condensed chromosome outer kinetochore|cytosol|spindle microtubule	microtubule binding	g.chr18:47906549G>A	BC015706	CCDS11946.1	18q21.1	2013-01-17	2009-08-19	2009-08-19	ENSG00000154839	ENSG00000154839			28109	protein-coding gene	gene with protein product			"chromosome 18 open reading frame 24"	C18orf24		17093495	Standard	NM_145060		Approved	MGC10200	uc002leu.3	Q96BD8	OTTHUMG00000132685	ENST00000285116.3:c.142G>A	18.37:g.47906549G>A	ENSP00000285116:p.Val48Ile					SKA1_ENST00000417656.2_Missense_Mutation_p.V48I|SKA1_ENST00000398452.2_Missense_Mutation_p.V48I|SKA1_ENST00000488454.1_Intron	p.V48I	NM_001039535.2|NM_145060.3	NP_001034624.1|NP_659497.1	Q96BD8	SKA1_HUMAN			3	353	+			48					B2R9Y6|B4E0P4	Missense_Mutation	SNP	ENST00000285116.3	37	c.142G>A	CCDS11946.1	.	.	.	.	.	.	.	.	.	.	G	9.012	0.982822	0.18889	.	.	ENSG00000154839	ENST00000285116;ENST00000417656;ENST00000398452	T;T;T	0.42131	0.98;0.98;0.98	6.06	0.865	0.19074	.	1.032160	0.07623	N	0.927298	T	0.25606	0.0623	N	0.22421	0.69	0.09310	N	0.999999	B;B	0.02656	0.0;0.0	B;B	0.08055	0.002;0.003	T	0.25047	-1.0143	10	0.21540	T	0.41	-0.4769	5.0435	0.14471	0.3703:0.1813:0.4484:0.0	.	48;48	Q96BD8-2;Q96BD8	.;SKA1_HUMAN	I	48	ENSP00000285116:V48I;ENSP00000397222:V48I;ENSP00000381470:V48I	ENSP00000285116:V48I	V	+	1	0	SKA1	46160547	0.696000	0.27757	0.141000	0.22245	0.937000	0.57800	0.487000	0.22356	0.116000	0.18110	-0.157000	0.13467	GTA		0.289	SKA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255982.2	NM_145060		79	151	0	0	0	0.000147903	0	79	151					A	47906549	G	A	47906549	3	1	14	1	0	0	0	0	1	0	0	0	14352	1377	48	3	148	3	SKA1	18	47906549	Missense_Mutation	SNP	G	TCGA-CH-5739-01A-11D-1576-08		47906549	30170699	41	586											
MUC16	94025	broad.mit.edu	37	chr19	8959691	8959691	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtattctccttccttcttccGccggcgggtggtcacctatg	3	14	10	14	3	3	0	1	0	2	0	6	0	5	0	5	3	0	1	5	3	2	6			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr19:8959691G>A	ENST00000397910.4	-	84	43644	c.43441C>T	c.(43441-43443)Cgg>Tgg	p.R14481W	MUC16_ENST00000380951.5_Missense_Mutation_p.R1122W	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	22126	SEA 16. {ECO:0000255|PROSITE- ProRule:PRU00188}.			Missing (in Ref. 3; AAK74120). {ECO:0000305}.	cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)		p.R14481W(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TCCTTCTTCCGCCGGCGGGTG	0.582																																						ENST00000397910.4																			1	Substitution - Missense(1)	p.R14481W(1)	prostate(1)	NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(43441-43443)Cgg>Tgg		mucin 16, cell surface associated							77	78	78					19																	8959691		1985	4182	6167	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:8959691G>A	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.43441C>T	19.37:g.8959691G>A	ENSP00000381008:p.Arg14481Trp					MUC16_ENST00000380951.5_Missense_Mutation_p.R1122W	p.R14481W	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			84	43644	-			22126	Missing (in Ref. 3; AAK74120).		SEA 16.		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.43441C>T	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	G	14.17	2.454936	0.43634	.	.	ENSG00000181143	ENST00000397910;ENST00000380951	T	0.02656	4.21	3.47	1.18	0.20946	.	.	.	.	.	T	0.08044	0.0201	L	0.43701	1.375	.	.	.	D;D	0.89917	1.0;1.0	P;D	0.73708	0.867;0.981	T	0.17684	-1.0361	8	0.87932	D	0	.	7.9759	0.30155	0.0:0.0:0.5341:0.4659	.	22126;14481	Q8WXI7;B5ME49	MUC16_HUMAN;.	W	14481;1122	ENSP00000381008:R14481W	ENSP00000370338:R1122W	R	-	1	2	MUC16	8820691	0.056000	0.20664	0.012000	0.15200	0.005000	0.04900	0.610000	0.24253	0.400000	0.25396	-0.500000	0.04577	CGG		0.582	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		8	17	0	0	0	0.00010058	0	8	17					A	8959691	G	A	8959691	3	1	14	1	0	0	0	0	1	0	0	0	9973	1086	38	1	86	1	MUC16	19	8959691	Missense_Mutation	SNP	G	TCGA-CH-5739-01A-11D-1576-08		8959691	50169292	42	587											
ZNF283	284349	broad.mit.edu	37	chr19	44352689	44352689	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctcaaaacttgttcatgagAgaactcatagtaatgataaa	17	11	7	6	0	3	3	3	2	0	1	3	4	3	3	0	0	2	3	0	0	7	5	rs386809610		TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr19:44352689A>G	ENST00000324461.7	+	7	2233	c.1936A>G	c.(1936-1938)Aga>Gga	p.R646G	ZNF283_ENST00000588797.1_Missense_Mutation_p.R507G	NM_181845.1	NP_862828.1	Q8N7M2	ZN283_HUMAN	zinc finger protein 283	646			R -> I (in dbSNP:rs10417624).		regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R646G(1)		endometrium(1)|large_intestine(3)|lung(4)	8		Prostate(69;0.0352)				TGTTCATGAGAGAACTCATAG	0.368																																						ENST00000324461.7																			1	Substitution - Missense(1)	p.R646G(1)	prostate(1)	endometrium(1)|large_intestine(3)|lung(4)	8						c.(1936-1938)Aga>Gga		zinc finger protein 283							91	97	95					19																	44352689		1955	4155	6110	SO:0001583	missense	284349				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44352689A>G	AK098175	CCDS46097.1, CCDS74387.1	19q13.31	2013-01-08			ENSG00000167637	ENSG00000167637		"Zinc fingers, C2H2-type", "-"	13077	protein-coding gene	gene with protein product						12743021	Standard	NM_181845		Approved		uc002oxr.4	Q8N7M2		ENST00000324461.7:c.1936A>G	19.37:g.44352689A>G	ENSP00000327314:p.Arg646Gly					ZNF283_ENST00000588797.1_Missense_Mutation_p.R507G	p.R646G	NM_181845.1	NP_862828.1	Q8N7M2	ZN283_HUMAN			7	2233	+		Prostate(69;0.0352)	646		R -> I (in dbSNP:rs10417624).			B4DGZ5|B7WP04|Q6RFR9|Q86WM6	Missense_Mutation	SNP	ENST00000324461.7	37	c.1936A>G	CCDS46097.1	.	.	.	.	.	.	.	.	.	.	A	13.51	2.259715	0.39995	.	.	ENSG00000167637	ENST00000324461	T	0.49432	0.78	2.89	1.86	0.25419	Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.45895	0.1365	M	0.81682	2.555	0.80722	D	1	B	0.06786	0.001	B	0.09377	0.004	T	0.42413	-0.9453	9	0.59425	D	0.04	.	6.1127	0.20110	0.8666:0.0:0.1334:0.0	.	646	Q8N7M2	ZN283_HUMAN	G	646	ENSP00000327314:R646G	ENSP00000327314:R646G	R	+	1	2	ZNF283	49044529	0.003000	0.15002	0.229000	0.23960	0.174000	0.22865	0.276000	0.18716	0.346000	0.23899	0.455000	0.32223	AGA		0.368	ZNF283-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459909.1	NM_181845		5	132	0	0	0	0.000157383	0	5	132					G	44352689	A	G	44352689	3	3	14	1	0	0	0	0	1	0	0	0	17817	296	11	4	1950	4	ZNF283	19	44352689	Missense_Mutation	SNP	A	TCGA-CH-5739-01A-11D-1576-08	35392998	44352689	14776294	43	588											
FAM47B	170062	broad.mit.edu	37	chrX	34962549	34962549	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgggacaggagacgccgggCggcaccgcattcttatagtg	8	7	15	11	4	1	1	0	0	1	1	1	3	1	2	2	4	0	2	2	4	2	3			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chrX:34962549C>T	ENST00000329357.5	+	1	1637	c.1601C>T	c.(1600-1602)gCg>gTg	p.A534V		NM_152631.2	NP_689844.2	Q8NA70	FA47B_HUMAN	family with sequence similarity 47, member B	534								p.A534V(2)		breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	71						AGACGCCGGGCGGCACCGCAT	0.502																																						ENST00000329357.5																			2	Substitution - Missense(2)	p.A534V(2)	prostate(2)	breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	71						c.(1600-1602)gCg>gTg		family with sequence similarity 47, member B							91	82	85					X																	34962549		2202	4300	6502	SO:0001583	missense	170062							g.chrX:34962549C>T	BC035026	CCDS14236.1	Xp21.1	2004-08-09			ENSG00000189132	ENSG00000189132			26659	protein-coding gene	gene with protein product						14702039	Standard	NM_152631		Approved	FLJ35782	uc004ddi.2	Q8NA70	OTTHUMG00000021345	ENST00000329357.5:c.1601C>T	X.37:g.34962549C>T	ENSP00000328307:p.Ala534Val						p.A534V	NM_152631.2	NP_689844.2	Q8NA70	FA47B_HUMAN			1	1637	+			534					Q5JQN5|Q6PIG3	Missense_Mutation	SNP	ENST00000329357.5	37	c.1601C>T	CCDS14236.1	.	.	.	.	.	.	.	.	.	.	C	7.505	0.653469	0.14580	.	.	ENSG00000189132	ENST00000329357	T	0.42513	0.97	0.602	0.602	0.17535	.	.	.	.	.	T	0.22513	0.0543	N	0.22421	0.69	0.09310	N	1	P	0.38280	0.625	B	0.28305	0.088	T	0.11421	-1.0588	8	0.59425	D	0.04	.	.	.	.	.	534	Q8NA70	FA47B_HUMAN	V	534	ENSP00000328307:A534V	ENSP00000328307:A534V	A	+	2	0	FAM47B	34872470	0.002000	0.14202	0.001000	0.08648	0.001000	0.01503	0.279000	0.18771	0.543000	0.28864	0.292000	0.19580	GCG		0.502	FAM47B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056211.1	NM_152631		16	57	0	0	0	0.000566183	0	16	57					T	34962549	C	T	34962549	3	4	14	1	0	0	0	0	1	0	0	0	5570	768	27	1	1603	1	FAM47B	23	34962549	Missense_Mutation	SNP	C	TCGA-CH-5739-01A-11D-1576-08		34962549	120308011	44	589											
C1orf173	127254	broad.mit.edu	37	chr1	75038884	75038884	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgctgctccctctgcccccCtttctatgcctggagggatc	3	12	9	17	0	2	0	0	0	2	0	4	2	3	2	5	2	4	2	5	2	1	2			TCGA-CH-5740-01A-11D-1576-08	TCGA-CH-5740-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0e1221-01d3-44dc-a762-2084b3a42cc1	bbb53cc1-7aaf-42c9-b4c9-dbaf6864f414	g.chr1:75038884C>A	ENST00000326665.5	-	14	2728	c.2510G>T	c.(2509-2511)aGg>aTg	p.R837M	C1orf173_ENST00000433746.2_5'UTR	NM_001002912.4	NP_001002912.4	Q5RHP9	ERIC3_HUMAN		837	Glu-rich.							p.R837M(1)|p.R837K(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						CTCTGCCCCCCTTTCTATGCC	0.562																																						ENST00000326665.5																			2	Substitution - Missense(2)	p.R837M(1)|p.R837K(1)	prostate(1)|lung(1)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						c.(2509-2511)aGg>aTg		chromosome 1 open reading frame 173							98	93	94					1																	75038884		2203	4300	6503	SO:0001583	missense	127254							g.chr1:75038884C>A																												ENST00000326665.5:c.2510G>T	1.37:g.75038884C>A	ENSP00000322609:p.Arg837Met					C1orf173_ENST00000433746.2_5'UTR	p.R837M	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN			14	2728	-			837			Glu-rich.		Q68DL8|Q6GMR8|Q6ZSF9|Q8ND41	Missense_Mutation	SNP	ENST00000326665.5	37	c.2510G>T	CCDS30755.1	.	.	.	.	.	.	.	.	.	.	C	12.72	2.021621	0.35701	.	.	ENSG00000178965	ENST00000326665	T	0.12465	2.68	5.4	-0.135	0.13477	.	.	.	.	.	T	0.02888	0.0086	N	0.22421	0.69	0.09310	N	1	P	0.45348	0.856	B	0.44163	0.443	T	0.31110	-0.9955	9	0.49607	T	0.09	0.018	1.6636	0.02797	0.2407:0.4355:0.1177:0.2061	.	837	Q5RHP9	CA173_HUMAN	M	837	ENSP00000322609:R837M	ENSP00000322609:R837M	R	-	2	0	C1orf173	74811472	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.620000	0.05565	-0.033000	0.13736	0.655000	0.94253	AGG		0.562	C1orf173-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026516.1			21	227	1	0	3.5997e-14	0.624587	4.05784e-14	21	227					A	75038884	C	A	75038884	3	1	15	1	0	0	0	0	1	0	0	0	2014	681	24	5	2086	5	C1orf173	1	75038884	Missense_Mutation	SNP	C	TCGA-CH-5740-01A-11D-1576-08		75038884	174211737	1	590											
NTNG1	22854	broad.mit.edu	37	chr1	107961230	107961230	+	Intron	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aagtttaataggatatggccGaatatttcttcccttgaggt	11	15	9	6	1	1	1	0	1	1	0	2	3	2	2	2	3	0	1	2	3	6	8			TCGA-CH-5740-01A-11D-1576-08	TCGA-CH-5740-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0e1221-01d3-44dc-a762-2084b3a42cc1	bbb53cc1-7aaf-42c9-b4c9-dbaf6864f414	g.chr1:107961230G>A	ENST00000370068.1	+	5	1933				NTNG1_ENST00000370074.4_Intron|NTNG1_ENST00000370067.1_Silent_p.P372P|NTNG1_ENST00000370073.2_Intron|NTNG1_ENST00000370070.2_Silent_p.P372P|NTNG1_ENST00000370061.3_Silent_p.P372P|NTNG1_ENST00000542803.1_Intron|NTNG1_ENST00000370066.1_Silent_p.P372P|NTNG1_ENST00000370071.2_Silent_p.P372P|NTNG1_ENST00000370072.3_Intron|NTNG1_ENST00000370065.1_Intron			Q9Y2I2	NTNG1_HUMAN	netrin G1						axonogenesis (GO:0007409)	anchored component of plasma membrane (GO:0046658)		p.P372P(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|soft_tissue(1)|urinary_tract(1)	37		all_epithelial(167;1.39e-05)|all_lung(203;0.000115)|Lung NSC(277;0.000238)|Breast(1374;0.243)		Lung(183;0.0946)|BRCA - Breast invasive adenocarcinoma(282;0.237)|Epithelial(280;0.245)		GGATATGGCCGAATATTTCTT	0.368																																						ENST00000370067.1																			1	Substitution - coding silent(1)	p.P372P(1)	prostate(1)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|soft_tissue(1)|urinary_tract(1)	37						c.(1114-1116)ccG>ccA		netrin G1							105	90	94					1																	107961230		1567	3581	5148	SO:0001627	intron_variant	22854				axonogenesis	anchored to plasma membrane	protein binding	g.chr1:107961230G>A	AB023193	CCDS30785.1, CCDS44179.1, CCDS44180.1	1p13.2-p13.1	2013-03-01			ENSG00000162631	ENSG00000162631		"Netrins"	23319	protein-coding gene	gene with protein product	"netrin G1f", "Netrin-G1"	608818				10964959	Standard	NM_001113226		Approved	KIAA0976, Lmnt1	uc001dvh.4	Q9Y2I2	OTTHUMG00000010965	ENST00000370068.1:c.1087+10900G>A	1.37:g.107961230G>A						NTNG1_ENST00000370074.4_Intron|NTNG1_ENST00000370073.2_Intron|NTNG1_ENST00000370072.3_Intron|NTNG1_ENST00000370068.1_Intron|NTNG1_ENST00000370071.2_Silent_p.P372P|NTNG1_ENST00000370070.2_Silent_p.P372P|NTNG1_ENST00000370061.3_Silent_p.P372P|NTNG1_ENST00000542803.1_Intron|NTNG1_ENST00000370065.1_Intron|NTNG1_ENST00000370066.1_Silent_p.P372P	p.P372P			Q9Y2I2	NTNG1_HUMAN		Lung(183;0.0946)|BRCA - Breast invasive adenocarcinoma(282;0.237)|Epithelial(280;0.245)	6	1743	+		all_epithelial(167;1.39e-05)|all_lung(203;0.000115)|Lung NSC(277;0.000238)|Breast(1374;0.243)	380			Laminin EGF-like 2.		Q5VU86|Q5VU87|Q5VU89|Q5VU90|Q5VU91|Q7Z2Y3|Q8N633	Silent	SNP	ENST00000370068.1	37	c.1116G>A	CCDS44180.1																																																																																				0.368	NTNG1-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000030340.1	NM_014917		16	26	0	0	0	0.520397	0	16	26					A	107961230	G	A	107961230	1	1	15	0	1	0	0	0	0	0	0	0	10704	1045	37	2		2	NTNG1	1	107961230	Intron	SNP	G	TCGA-CH-5740-01A-11D-1576-08	32922346	107961230	141289391	2	591											
OVGP1	5016	broad.mit.edu	37	chr1	111969101	111969101	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgggtagagaattttctcaTcctggagatccttagcaaca	11	12	9	9	0	1	2	1	0	1	2	4	4	3	2	2	2	2	2	2	2	4	4			TCGA-CH-5740-01A-11D-1576-08	TCGA-CH-5740-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0e1221-01d3-44dc-a762-2084b3a42cc1	bbb53cc1-7aaf-42c9-b4c9-dbaf6864f414	g.chr1:111969101T>C	ENST00000369732.3	-	3	273	c.218A>G	c.(217-219)gAt>gGt	p.D73G	OVGP1_ENST00000540696.1_Missense_Mutation_p.D13G	NM_002557.3	NP_002548.3	Q12889	OVGP1_HUMAN	oviductal glycoprotein 1, 120kDa	73					binding of sperm to zona pellucida (GO:0007339)|carbohydrate metabolic process (GO:0005975)|chitin catabolic process (GO:0006032)|female pregnancy (GO:0007565)|multicellular organism reproduction (GO:0032504)|negative regulation of binding of sperm to zona pellucida (GO:2000360)|single fertilization (GO:0007338)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|egg coat (GO:0035805)|perivitelline space (GO:0098595)	chitinase activity (GO:0004568)	p.D73G(1)|p.D115G(1)		NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	39		all_cancers(81;8.18e-06)|all_epithelial(167;5.64e-06)|all_lung(203;0.000152)|Lung NSC(277;0.000302)		Lung(183;0.0253)|Colorectal(144;0.033)|all cancers(265;0.0552)|Epithelial(280;0.0802)|COAD - Colon adenocarcinoma(174;0.123)|LUSC - Lung squamous cell carcinoma(189;0.14)		AATTTTCTCATCCTGGAGATC	0.428																																						ENST00000369732.3																			2	Substitution - Missense(2)	p.D73G(1)|p.D115G(1)	prostate(2)	NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	39						c.(217-219)gAt>gGt		oviductal glycoprotein 1, 120kDa							99	98	98					1																	111969101		2203	4300	6503	SO:0001583	missense	5016				chitin catabolic process|female pregnancy|single fertilization	transport vesicle	cation binding|chitinase activity	g.chr1:111969101T>C	U09550	CCDS834.1	1p13.2	2008-07-31	2008-07-31		ENSG00000085465	ENSG00000085465		"Mucins"	8524	protein-coding gene	gene with protein product	"oviductin"	603578	"mucin 9"	MUC9		7819450, 9341614	Standard	NM_002557		Approved	CHIT5	uc001eba.3	Q12889	OTTHUMG00000011746	ENST00000369732.3:c.218A>G	1.37:g.111969101T>C	ENSP00000358747:p.Asp73Gly					OVGP1_ENST00000540696.1_Missense_Mutation_p.D13G	p.D73G	NM_002557.3	NP_002548.3	Q12889	OVGP1_HUMAN		Lung(183;0.0253)|Colorectal(144;0.033)|all cancers(265;0.0552)|Epithelial(280;0.0802)|COAD - Colon adenocarcinoma(174;0.123)|LUSC - Lung squamous cell carcinoma(189;0.14)	3	273	-		all_cancers(81;8.18e-06)|all_epithelial(167;5.64e-06)|all_lung(203;0.000152)|Lung NSC(277;0.000302)	73					A0AV19|B9EGE1|Q15841	Missense_Mutation	SNP	ENST00000369732.3	37	c.218A>G	CCDS834.1	.	.	.	.	.	.	.	.	.	.	T	20.5	3.993756	0.74703	.	.	ENSG00000085465	ENST00000369732;ENST00000369728;ENST00000540696	T;T	0.39056	1.1;3.53	4.23	4.23	0.50019	Chitinase II (1);Glycoside hydrolase, family 18, catalytic domain (1);Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.099968	0.64402	D	0.000003	T	0.55016	0.1894	M	0.78223	2.4	0.38790	D	0.954962	D;D;D	0.89917	1.0;1.0;0.998	D;D;D	0.87578	0.998;0.998;0.975	T	0.62544	-0.6832	10	0.72032	D	0.01	-13.2511	11.577	0.50866	0.0:0.0:0.0:1.0	.	73;73;115	B2RA77;Q12889;Q59HH5	.;OVGP1_HUMAN;.	G	73;115;13	ENSP00000358747:D73G;ENSP00000438449:D13G	ENSP00000358743:D115G	D	-	2	0	OVGP1	111770624	1.000000	0.71417	0.985000	0.45067	0.973000	0.67179	6.892000	0.75644	1.903000	0.55091	0.402000	0.26972	GAT		0.428	OVGP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032461.1	NM_002557		11	201	0	0	0	0.435327	0	11	201					C	111969101	T	C	111969101	3	2	15	1	0	0	0	0	1	0	0	0	11325	1435	50	4	1854	4	OVGP1	1	111969101	Missense_Mutation	SNP	T	TCGA-CH-5740-01A-11D-1576-08	4007871	111969101	137281520	3	592											
AP4B1	10717	broad.mit.edu	37	chr1	114442814	114442814	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tagcaaaggtcccttgacccGcacaaggacatcagtttgta	12	9	9	11	1	1	1	1	1	0	0	2	2	2	2	2	2	1	4	2	2	4	4			TCGA-CH-5740-01A-11D-1576-08	TCGA-CH-5740-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0e1221-01d3-44dc-a762-2084b3a42cc1	bbb53cc1-7aaf-42c9-b4c9-dbaf6864f414	g.chr1:114442814G>A	ENST00000369569.1	-	5	1106	c.826C>T	c.(826-828)Cgg>Tgg	p.R276W	AP4B1_ENST00000369566.3_Missense_Mutation_p.R183W|AP4B1_ENST00000256658.4_Missense_Mutation_p.R276W|AP4B1-AS1_ENST00000419536.1_RNA|AP4B1_ENST00000462591.1_5'Flank|AP4B1_ENST00000369567.1_Missense_Mutation_p.R108W	NM_001253852.1	NP_001240781.1	Q9Y6B7	AP4B1_HUMAN	adaptor-related protein complex 4, beta 1 subunit	276					intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	clathrin adaptor complex (GO:0030131)|coated pit (GO:0005905)|trans-Golgi network (GO:0005802)	protein transporter activity (GO:0008565)|transporter activity (GO:0005215)	p.R276W(2)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|ovary(3)|prostate(3)	25	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.1e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CCCTTGACCCGCACAAGGACA	0.483																																						ENST00000369569.1																			2	Substitution - Missense(2)	p.R276W(2)	prostate(2)	breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|ovary(3)|prostate(3)	25						c.(826-828)Cgg>Tgg		adaptor-related protein complex 4, beta 1 subunit							74	81	78					1																	114442814		2203	4300	6503	SO:0001583	missense	10717				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|soluble fraction|trans-Golgi network	protein binding|protein transporter activity	g.chr1:114442814G>A	AF092094	CCDS865.1	1p13.2	2012-03-30			ENSG00000134262	ENSG00000134262			572	protein-coding gene	gene with protein product	"beta 4 subunit of AP-4"	607245	"spastic paraplegia 47"	SPG47		10066790	Standard	NM_006594		Approved	BETA-4	uc001eeb.3	Q9Y6B7	OTTHUMG00000011943	ENST00000369569.1:c.826C>T	1.37:g.114442814G>A	ENSP00000358582:p.Arg276Trp					AP4B1_ENST00000369567.1_Missense_Mutation_p.R108W|AP4B1_ENST00000256658.4_Missense_Mutation_p.R276W|AP4B1_ENST00000369566.3_Missense_Mutation_p.R183W|AP4B1-AS1_ENST00000419536.1_RNA	p.R276W	NM_001253852.1	NP_001240781.1	Q9Y6B7	AP4B1_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	5	1106	-	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.1e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)	276					B7Z4X3|Q59EJ4|Q96CL6	Missense_Mutation	SNP	ENST00000369569.1	37	c.826C>T	CCDS865.1	.	.	.	.	.	.	.	.	.	.	G	16.98	3.272545	0.59649	.	.	ENSG00000134262	ENST00000369567;ENST00000369569;ENST00000256658;ENST00000369566;ENST00000369564;ENST00000432415	T;T;T;T;T;T	0.27104	1.69;1.69;1.69;2.55;1.69;1.69	5.09	3.04	0.35103	Clathrin/coatomer adaptor, adaptin-like, N-terminal (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.174999	0.49305	D	0.000144	T	0.47192	0.1432	M	0.87328	2.875	0.41890	D	0.990362	D;D;D;D	0.89917	1.0;1.0;0.998;1.0	D;D;D;D	0.91635	0.999;0.995;0.974;0.99	T	0.62186	-0.6907	10	0.87932	D	0	.	15.2638	0.73646	0.0:0.0:0.6536:0.3464	.	183;108;276;177	B7Z4X3;B1ALD0;Q9Y6B7;B4DTG3	.;.;AP4B1_HUMAN;.	W	108;276;276;183;201;108	ENSP00000358580:R108W;ENSP00000358582:R276W;ENSP00000256658:R276W;ENSP00000358579:R183W;ENSP00000358577:R201W;ENSP00000393622:R108W	ENSP00000256658:R276W	R	-	1	2	AP4B1	114244337	0.992000	0.36948	0.837000	0.33122	0.912000	0.54170	1.685000	0.37659	1.225000	0.43566	0.561000	0.74099	CGG		0.483	AP4B1-009	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033037.1	NM_006594		5	128	0	0	0	0.184627	0	5	128					A	114442814	G	A	114442814	3	1	15	1	0	0	0	0	1	0	0	0	751	1086	38	1	1417	1	AP4B1	1	114442814	Missense_Mutation	SNP	G	TCGA-CH-5740-01A-11D-1576-08	2473713	114442814	134807807	4	593											
LCE2D	353141	broad.mit.edu	37	chr1	152636733	152636733	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctcttcctgctgtggtcccaGctctgggagctgctgtggtc	2	13	13	13	0	2	0	0	0	2	0	5	1	4	1	2	3	4	4	2	3	0	1			TCGA-CH-5740-01A-11D-1576-08	TCGA-CH-5740-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0e1221-01d3-44dc-a762-2084b3a42cc1	bbb53cc1-7aaf-42c9-b4c9-dbaf6864f414	g.chr1:152636733G>T	ENST00000368784.1	+	2	207	c.152G>T	c.(151-153)aGc>aTc	p.S51I		NM_178430.2	NP_848517.1	Q5TA82	LCE2D_HUMAN	late cornified envelope 2D	51	Cys-rich.				keratinization (GO:0031424)			p.S51I(1)		large_intestine(1)|lung(7)|prostate(2)	10	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGTGGTCCCAGCTCTGGGAGC	0.647																																						ENST00000368784.1																			1	Substitution - Missense(1)	p.S51I(1)	prostate(1)	large_intestine(1)|lung(7)|prostate(2)	10						c.(151-153)aGc>aTc		late cornified envelope 2D							102	112	108					1																	152636733		2203	4300	6503	SO:0001583	missense	353141				keratinization			g.chr1:152636733G>T	BI670513	CCDS1018.1	1q21.3	2008-02-05	2004-10-11	2004-10-15	ENSG00000187223	ENSG00000187223		"Late cornified envelopes"	16518	protein-coding gene	gene with protein product		612612	"small proline rich-like (epidermal differentiation complex) 1A"	SPRL1A		11698679	Standard	NM_178430		Approved	LEP12	uc001fag.4	Q5TA82	OTTHUMG00000014400	ENST00000368784.1:c.152G>T	1.37:g.152636733G>T	ENSP00000357773:p.Ser51Ile						p.S51I	NM_178430.2	NP_848517.1	Q5TA82	LCE2D_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	207	+	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		51			Cys-rich.		A1L4M8	Missense_Mutation	SNP	ENST00000368784.1	37	c.152G>T	CCDS1018.1	.	.	.	.	.	.	.	.	.	.	G	0.195	-1.049957	0.01981	.	.	ENSG00000187223	ENST00000368784	T	0.03831	3.79	2.4	1.47	0.22746	.	.	.	.	.	T	0.03827	0.0108	L	0.46741	1.465	0.22389	N	0.999141	D	0.62365	0.991	D	0.68039	0.955	T	0.37314	-0.9711	9	0.16896	T	0.51	.	6.162	0.20370	0.0:0.0:0.6991:0.3009	.	51	Q5TA82	LCE2D_HUMAN	I	51	ENSP00000357773:S51I	ENSP00000357773:S51I	S	+	2	0	LCE2D	150903357	0.328000	0.24687	0.957000	0.39632	0.031000	0.12232	1.072000	0.30678	0.213000	0.20722	-0.708000	0.03648	AGC		0.647	LCE2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040058.1	NM_178430		109	191	1	0	5.67207e-43	0.870114	6.63525e-43	109	191					T	152636733	G	T	152636733	3	4	15	1	0	0	0	0	1	0	0	0	8668	971	34	5	154	5	LCE2D	1	152636733	Missense_Mutation	SNP	G	TCGA-CH-5740-01A-11D-1576-08	38193919	152636733	96613888	5	594											
AIM2	9447	broad.mit.edu	37	chr1	159033301	159033301	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggtgctatgaactccagatGtcagctgtagtttttctcca	8	15	9	9	0	2	2	1	1	1	1	4	2	3	2	2	1	3	4	2	1	3	4			TCGA-CH-5740-01A-11D-1576-08	TCGA-CH-5740-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0e1221-01d3-44dc-a762-2084b3a42cc1	bbb53cc1-7aaf-42c9-b4c9-dbaf6864f414	g.chr1:159033301G>A	ENST00000368130.4	-	5	1268	c.980C>T	c.(979-981)aCa>aTa	p.T327I	AIM2_ENST00000411768.1_5'Flank	NM_004833.1	NP_004824.1	O14862	AIM2_HUMAN	absent in melanoma 2	327	HIN-200. {ECO:0000255|PROSITE- ProRule:PRU00106}.				activation of innate immune response (GO:0002218)|apoptotic process (GO:0006915)|cellular response to drug (GO:0035690)|cellular response to interferon-beta (GO:0035458)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-1 beta secretion (GO:0050702)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of cysteine-type endopeptidase activity (GO:2001056)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of interleukin-1 beta production (GO:0032731)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein oligomerization (GO:0032461)|pyroptosis (GO:0070269)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	AIM2 inflammasome complex (GO:0097169)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|identical protein binding (GO:0042802)	p.T327I(1)		breast(1)|large_intestine(1)|lung(7)|ovary(2)|pancreas(2)|prostate(2)|skin(1)	16	all_hematologic(112;0.0429)					AACTCCAGATGTCAGCTGTAG	0.423																																						ENST00000368130.4																			1	Substitution - Missense(1)	p.T327I(1)	prostate(1)	breast(1)|large_intestine(1)|lung(7)|ovary(2)|pancreas(2)|prostate(2)|skin(1)	16						c.(979-981)aCa>aTa		absent in melanoma 2							225	211	216					1																	159033301		2203	4300	6503	SO:0001583	missense	9447				cellular response to drug|immune response|interleukin-1 beta secretion	mitochondrion|nucleus		g.chr1:159033301G>A	AF024714	CCDS1181.1	1q22	2008-07-18			ENSG00000163568	ENSG00000163568			357	protein-coding gene	gene with protein product		604578				9242382	Standard	NM_004833		Approved	PYHIN4	uc001ftj.1	O14862	OTTHUMG00000037183	ENST00000368130.4:c.980C>T	1.37:g.159033301G>A	ENSP00000357112:p.Thr327Ile						p.T327I	NM_004833.1	NP_004824.1	O14862	AIM2_HUMAN			5	1268	-	all_hematologic(112;0.0429)		327			HIN-200.		A8K7M7|Q5T3V9|Q96FG9	Missense_Mutation	SNP	ENST00000368130.4	37	c.980C>T	CCDS1181.1	.	.	.	.	.	.	.	.	.	.	G	1.709	-0.499649	0.04291	.	.	ENSG00000163568	ENST00000368130	T	0.21734	1.99	3.92	-1.79	0.07932	HIN-200/IF120x (1);Nucleic acid-binding, OB-fold (1);	0.480132	0.15562	N	0.255884	T	0.02970	0.0088	N	0.22421	0.69	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.43163	-0.9408	10	0.23891	T	0.37	-5.3273	4.5787	0.12248	0.3091:0.0:0.3473:0.3436	.	327	O14862	AIM2_HUMAN	I	327	ENSP00000357112:T327I	ENSP00000357112:T327I	T	-	2	0	AIM2	157299925	0.006000	0.16342	0.011000	0.14972	0.147000	0.21601	-0.436000	0.06922	-0.462000	0.06984	-0.397000	0.06425	ACA		0.423	AIM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090341.1	NM_004833		91	348	0	0	0	0.870114	0	91	348					A	159033301	G	A	159033301	3	1	15	1	0	0	0	0	1	0	0	0	432	1377	48	3	59	3	AIM2	1	159033301	Missense_Mutation	SNP	G	TCGA-CH-5740-01A-11D-1576-08	6396568	159033301	90217320	6	595											
CR1L	1379	broad.mit.edu	37	chr1	207870862	207870862	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ccccagtatgtcagccacctCcagatgtcctgcatgctgag	8	9	9	15	0	1	2	1	1	0	1	3	2	3	2	6	0	3	3	6	0	1	1			TCGA-CH-5740-01A-11D-1576-08	TCGA-CH-5740-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0e1221-01d3-44dc-a762-2084b3a42cc1	bbb53cc1-7aaf-42c9-b4c9-dbaf6864f414	g.chr1:207870862C>A	ENST00000508064.2	+	6	937	c.877C>A	c.(877-879)Cca>Aca	p.P293T	CR1L_ENST00000530905.1_Intron	NM_175710.1	NP_783641.1	Q2VPA4	CR1L_HUMAN	complement component (3b/4b) receptor 1-like	293	Sushi 5. {ECO:0000255|PROSITE- ProRule:PRU00302}.					cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)|receptor complex (GO:0043235)		p.P293T(1)|p.P301T(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						TCAGCCACCTCCAGATGTCCT	0.478																																						ENST00000508064.2																			2	Substitution - Missense(2)	p.P293T(1)|p.P301T(1)	prostate(2)	endometrium(1)|kidney(1)|large_intestine(2)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						c.(877-879)Cca>Aca		complement component (3b/4b) receptor 1-like							158	152	154					1																	207870862		1900	4115	6015	SO:0001583	missense	1379					cytoplasm|extracellular region|membrane		g.chr1:207870862C>A	AY114160	CCDS44310.1	1q32.1	2008-02-05			ENSG00000197721	ENSG00000197721		"Complement system"	2335	protein-coding gene	gene with protein product		605886				2295627	Standard	NM_175710		Approved		uc001hga.4	Q2VPA4	OTTHUMG00000036354	ENST00000508064.2:c.877C>A	1.37:g.207870862C>A	ENSP00000421736:p.Pro293Thr					CR1L_ENST00000530905.1_Intron	p.P293T	NM_175710.1	NP_783641.1	Q2VPA4	CR1L_HUMAN			6	937	+			293			Sushi 5.		Q32MC9|Q8NEU7	Missense_Mutation	SNP	ENST00000508064.2	37	c.877C>A	CCDS44310.1	.	.	.	.	.	.	.	.	.	.	C	11.65	1.700925	0.30142	.	.	ENSG00000197721	ENST00000444269;ENST00000508064	T	0.66995	-0.24	2.53	1.44	0.22558	Complement control module (2);Sushi/SCR/CCP (3);	.	.	.	.	T	0.76485	0.3994	M	0.79011	2.435	0.09310	N	1	D	0.63046	0.992	D	0.67382	0.951	T	0.61178	-0.7115	9	0.46703	T	0.11	.	5.8187	0.18516	0.3146:0.6854:0.0:0.0	.	293	Q2VPA4	CR1L_HUMAN	T	293	ENSP00000421736:P293T	ENSP00000434864:P237T	P	+	1	0	CR1L	205937485	0.000000	0.05858	0.017000	0.16124	0.082000	0.17680	0.067000	0.14510	1.411000	0.46957	0.298000	0.19748	CCA		0.478	CR1L-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390247.1	XM_114735		110	249	1	0	2.77839e-60	0.870114	3.3127e-60	110	249					A	207870862	C	A	207870862	3	1	15	1	0	0	0	0	1	0	0	0	3841	855	30	5	899	5	CR1L	1	207870862	Missense_Mutation	SNP	C	TCGA-CH-5740-01A-11D-1576-08	48837561	207870862	41379759	7	596											
CD46	4179	broad.mit.edu	37	chr1	207932991	207932991	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttttctcatttagttattacTtaattggtgaagaaattcta	12	20	5	4	0	2	2	1	1	2	1	3	2	2	2	0	1	1	1	0	1	7	10			TCGA-CH-5740-01A-11D-1576-08	TCGA-CH-5740-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0e1221-01d3-44dc-a762-2084b3a42cc1	bbb53cc1-7aaf-42c9-b4c9-dbaf6864f414	g.chr1:207932991T>G	ENST00000358170.2	+	4	553	c.397T>G	c.(397-399)Tta>Gta	p.L133V	CD46_ENST00000322875.4_Missense_Mutation_p.L133V|CD46_ENST00000361067.1_Missense_Mutation_p.L133V|CD46_ENST00000367047.1_Missense_Mutation_p.L70V|CD46_ENST00000354848.1_Missense_Mutation_p.L133V|CD46_ENST00000480003.1_Missense_Mutation_p.L133V|CD46_ENST00000360212.2_Missense_Mutation_p.L133V|CD46_ENST00000441839.2_Missense_Mutation_p.L133V|CD46_ENST00000357714.1_Missense_Mutation_p.L133V|CD46_ENST00000469535.1_3'UTR|CD46_ENST00000367042.1_Missense_Mutation_p.L133V|CD46_ENST00000367041.1_Missense_Mutation_p.L133V|CD46_ENST00000322918.5_Missense_Mutation_p.L133V	NM_002389.4	NP_002380.3	P15529	MCP_HUMAN	CD46 molecule, complement regulatory protein	133	Sushi 2. {ECO:0000255|PROSITE- ProRule:PRU00302}.				adaptive immune response (GO:0002250)|complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)|interleukin-10 production (GO:0032613)|negative regulation of complement activation (GO:0045916)|negative regulation of gene expression (GO:0010629)|positive regulation of gene expression (GO:0010628)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of memory T cell differentiation (GO:0043382)|positive regulation of regulatory T cell differentiation (GO:0045591)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of transforming growth factor beta production (GO:0071636)|proteolysis (GO:0006508)|regulation of complement activation (GO:0030449)|regulation of Notch signaling pathway (GO:0008593)|sequestering of extracellular ligand from receptor (GO:0035581)|single fertilization (GO:0007338)|T cell mediated immunity (GO:0002456)|viral process (GO:0016032)	basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|inner acrosomal membrane (GO:0002079)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cadherin binding (GO:0045296)|receptor activity (GO:0004872)	p.L133V(1)		breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(6)|prostate(1)|skin(1)	19						TAGTTATTACTTAATTGGTGA	0.279																																						ENST00000358170.2																			1	Substitution - Missense(1)	p.L133V(1)	prostate(1)	breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(6)|prostate(1)|skin(1)	19						c.(397-399)Tta>Gta		CD46 molecule, complement regulatory protein							37	39	38					1																	207932991		2202	4291	6493	SO:0001583	missense	4179				complement activation, classical pathway|innate immune response|interspecies interaction between organisms|single fertilization	inner acrosomal membrane|integral to plasma membrane	protein binding|receptor activity	g.chr1:207932991T>G	BC030594	CCDS1479.1, CCDS1480.1, CCDS1481.1, CCDS1482.1, CCDS1484.1, CCDS1485.1, CCDS31008.1, CCDS31009.1	1q32	2014-09-17	2006-03-28	2006-02-09	ENSG00000117335	ENSG00000117335		"CD molecules", "Complement system"	6953	protein-coding gene	gene with protein product		120920	"antigen identified by monoclonal antibody TRA-2-10", "membrane cofactor protein (CD46, trophoblast-lymphocyte cross-reactive antigen)", "CD46 antigen, complement regulatory protein"	MIC10, MCP		7929741	Standard	NM_002389		Approved	TRA2.10, MGC26544, TLX	uc001hgj.3	P15529	OTTHUMG00000036397	ENST00000358170.2:c.397T>G	1.37:g.207932991T>G	ENSP00000350893:p.Leu133Val					CD46_ENST00000480003.1_Missense_Mutation_p.L133V|CD46_ENST00000354848.1_Missense_Mutation_p.L133V|CD46_ENST00000361067.1_Missense_Mutation_p.L133V|CD46_ENST00000441839.2_Missense_Mutation_p.L133V|CD46_ENST00000367047.1_Missense_Mutation_p.L70V|CD46_ENST00000469535.1_3'UTR|CD46_ENST00000367041.1_Missense_Mutation_p.L133V|CD46_ENST00000357714.1_Missense_Mutation_p.L133V|CD46_ENST00000360212.2_Missense_Mutation_p.L133V|CD46_ENST00000322918.5_Missense_Mutation_p.L133V|CD46_ENST00000367042.1_Missense_Mutation_p.L133V|CD46_ENST00000322875.4_Missense_Mutation_p.L133V	p.L133V	NM_002389.4	NP_002380.3	P15529	MCP_HUMAN			4	553	+			133			Sushi 2.		A0T1T0|A0T1T1|A0T1T2|Q15429|Q53GV9|Q5HY94|Q5VWS6|Q5VWS7|Q5VWS8|Q5VWS9|Q5VWT0|Q5VWT1|Q5VWT2|Q6N0A1|Q7Z3R5|Q9NNW2|Q9NNW3|Q9NNW4|Q9UCJ4	Missense_Mutation	SNP	ENST00000358170.2	37	c.397T>G	CCDS1485.1	.	.	.	.	.	.	.	.	.	.	T	11.78	1.741614	0.30865	.	.	ENSG00000117335	ENST00000358170;ENST00000354848;ENST00000322918;ENST00000367042;ENST00000367041;ENST00000357714;ENST00000322875;ENST00000367047;ENST00000441839;ENST00000361067;ENST00000360212;ENST00000480003	T;T;T;T;T;T;T;T;T;T;T;T	0.69926	-0.44;-0.44;-0.44;-0.44;-0.44;-0.44;-0.44;-0.44;-0.44;-0.44;-0.44;-0.44	4.66	-7.35	0.01422	Complement control module (2);Sushi/SCR/CCP (3);	1.548440	0.04254	N	0.339122	T	0.77432	0.4129	M	0.88181	2.935	0.09310	N	1	P;B;B;P;P;P;P;B;P;B;P;P;P;D	0.53885	0.826;0.285;0.421;0.826;0.863;0.954;0.826;0.421;0.826;0.099;0.826;0.954;0.942;0.963	B;B;B;B;P;D;B;B;B;B;B;D;P;D	0.68483	0.34;0.118;0.095;0.34;0.855;0.93;0.435;0.095;0.435;0.032;0.34;0.924;0.897;0.958	T	0.72730	-0.4205	10	0.52906	T	0.07	.	0.2804	0.00244	0.3608:0.1746:0.2387:0.2259	.	133;133;133;133;133;133;133;133;133;133;133;133;133;133	P15529-4;P15529-5;P15529-14;P15529-3;P15529-12;P15529-13;P15529-2;P15529-11;P15529-7;P15529-9;P15529-15;P15529-6;P15529-8;P15529	.;.;.;.;.;.;.;.;.;.;.;.;.;MCP_HUMAN	V	133;133;133;133;133;133;133;70;133;133;133;133	ENSP00000350893:L133V;ENSP00000346912:L133V;ENSP00000314664:L133V;ENSP00000356009:L133V;ENSP00000356008:L133V;ENSP00000350346:L133V;ENSP00000313875:L133V;ENSP00000356014:L70V;ENSP00000413543:L133V;ENSP00000354358:L133V;ENSP00000353342:L133V;ENSP00000418471:L133V	ENSP00000313875:L133V	L	+	1	2	CD46	205999614	0.000000	0.05858	0.000000	0.03702	0.118000	0.20060	-1.494000	0.02296	-1.522000	0.01769	0.482000	0.46254	TTA		0.279	CD46-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000088588.3	NM_172361		23	45	0	0	0	0.624587	0	23	45					G	207932991	T	G	207932991	3	3	15	1	0	0	0	0	1	0	0	0	3018	1606	56	5	411	5	CD46	1	207932991	Missense_Mutation	SNP	T	TCGA-CH-5740-01A-11D-1576-08	62129	207932991	41317630	8	597											
HEATR1	55127	broad.mit.edu	37	chr1	236760202	236760202	+	Silent	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctctgcagctaccagcgcCgacactatggtagaagcata	11	8	9	13	2	1	1	0	0	1	1	2	2	2	1	3	1	5	4	3	1	5	4	rs575915869		TCGA-CH-5740-01A-11D-1576-08	TCGA-CH-5740-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0e1221-01d3-44dc-a762-2084b3a42cc1	bbb53cc1-7aaf-42c9-b4c9-dbaf6864f414	g.chr1:236760202C>G	ENST00000366582.3	-	6	792	c.678G>C	c.(676-678)tcG>tcC	p.S226S	HEATR1_ENST00000366581.2_Silent_p.S226S|HEATR1_ENST00000483073.1_5'UTR	NM_018072.5	NP_060542.4	Q9H583	HEAT1_HUMAN	HEAT repeat containing 1	226					rRNA processing (GO:0006364)	membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)	p.S226S(1)		NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	87	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			CTACCAGCGCCGACACTATGG	0.448																																						ENST00000366582.3																			1	Substitution - coding silent(1)	p.S226S(1)	prostate(1)	NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	87						c.(676-678)tcG>tcC		HEAT repeat containing 1							123	119	120					1																	236760202		2203	4300	6503	SO:0001819	synonymous_variant	55127				rRNA processing	nucleolus|ribonucleoprotein complex	protein binding	g.chr1:236760202C>G	BC065205	CCDS31066.1	1q43	2011-08-12			ENSG00000119285	ENSG00000119285			25517	protein-coding gene	gene with protein product	"UTP10, small subunit (SSU) processome component, homolog (yeast)"					17699751	Standard	NM_018072		Approved	FLJ10359, BAP28, UTP10	uc001hyd.2	Q9H583	OTTHUMG00000040061	ENST00000366582.3:c.678G>C	1.37:g.236760202C>G						HEATR1_ENST00000366581.2_Silent_p.S226S|HEATR1_ENST00000483073.1_5'UTR	p.S226S	NM_018072.5	NP_060542.4	Q9H583	HEAT1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00117)		6	792	-	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	226					Q5T3Q8|Q6P197|Q9NW23	Silent	SNP	ENST00000366582.3	37	c.678G>C	CCDS31066.1																																																																																				0.448	HEATR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096635.1	XM_375853		3	116	0	0	0	0.115264	0	3	116					G	236760202	C	G	236760202	2	3	15	1	0	0	0	0	0	0	0	1	7027	639	23	5		5	HEATR1	1	236760202	Silent	SNP	C	TCGA-CH-5740-01A-11D-1576-08	28827211	236760202	12490419	9	598											
TFB2M	64216	broad.mit.edu	37	chr1	246729167	246729167	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	taggtgtggaggtctacttgGttttcccaaatagatttgcg	8	15	12	6	1	1	1	0	0	1	1	2	2	2	2	1	4	2	1	1	4	4	7			TCGA-CH-5740-01A-11D-1576-08	TCGA-CH-5740-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0e1221-01d3-44dc-a762-2084b3a42cc1	bbb53cc1-7aaf-42c9-b4c9-dbaf6864f414	g.chr1:246729167G>C	ENST00000366514.4	-	1	459	c.274C>G	c.(274-276)Cca>Gca	p.P92A	TFB2M_ENST00000544618.1_Missense_Mutation_p.P92A|CNST_ENST00000366512.3_5'Flank|CNST_ENST00000366513.4_5'Flank	NM_022366.2	NP_071761.1	Q9H5Q4	TFB2M_HUMAN	transcription factor B2, mitochondrial	92					gene expression (GO:0010467)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from mitochondrial promoter (GO:0006390)|transcription initiation from mitochondrial promoter (GO:0006391)	mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)	poly(A) RNA binding (GO:0044822)|rRNA (adenine-N6,N6-)-dimethyltransferase activity (GO:0000179)|transcription cofactor activity (GO:0003712)	p.P92A(1)		breast(1)|endometrium(1)|kidney(12)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	28	all_cancers(71;4.25e-05)|all_epithelial(71;4.92e-06)|Ovarian(71;0.0254)|all_lung(81;0.0272)|Breast(184;0.0318)|Lung NSC(105;0.0376)		OV - Ovarian serous cystadenocarcinoma(106;0.00358)			GGTCTACTTGGTTTTCCCAAA	0.473																																						ENST00000366514.4																			1	Substitution - Missense(1)	p.P92A(1)	prostate(1)	breast(1)|endometrium(1)|kidney(12)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	28						c.(274-276)Cca>Gca		transcription factor B2, mitochondrial							83	85	84					1																	246729167		2203	4300	6503	SO:0001583	missense	64216				positive regulation of transcription, DNA-dependent|transcription initiation from mitochondrial promoter	mitochondrial nucleoid	protein binding|rRNA (adenine-N6,N6-)-dimethyltransferase activity|transcription cofactor activity	g.chr1:246729167G>C	AK026835	CCDS1627.1	1q44	2008-02-05			ENSG00000162851	ENSG00000162851			18559	protein-coding gene	gene with protein product		607055					Standard	NM_022366		Approved	FLJ23182, FLJ22661, Hkp1	uc001ibn.3	Q9H5Q4	OTTHUMG00000040091	ENST00000366514.4:c.274C>G	1.37:g.246729167G>C	ENSP00000355471:p.Pro92Ala					TFB2M_ENST00000544618.1_Missense_Mutation_p.P92A	p.P92A	NM_022366.2	NP_071761.1	Q9H5Q4	TFB2M_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00358)		1	459	-	all_cancers(71;4.25e-05)|all_epithelial(71;4.92e-06)|Ovarian(71;0.0254)|all_lung(81;0.0272)|Breast(184;0.0318)|Lung NSC(105;0.0376)		92					Q9H626	Missense_Mutation	SNP	ENST00000366514.4	37	c.274C>G	CCDS1627.1	.	.	.	.	.	.	.	.	.	.	G	1.150	-0.647076	0.03506	.	.	ENSG00000162851	ENST00000366514;ENST00000544618	T;T	0.34859	1.34;1.34	3.97	-3.63	0.04529	.	2.356290	0.01474	N	0.016390	T	0.20251	0.0487	N	0.14661	0.345	0.09310	N	1	B	0.19583	0.037	B	0.24394	0.053	T	0.19192	-1.0313	10	0.09338	T	0.73	1.9589	7.9861	0.30213	0.0:0.3744:0.2143:0.4113	.	92	Q9H5Q4	TFB2M_HUMAN	A	92	ENSP00000355471:P92A;ENSP00000442426:P92A	ENSP00000355471:P92A	P	-	1	0	TFB2M	244795790	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.410000	0.02480	-0.707000	0.05022	-0.467000	0.05162	CCA		0.473	TFB2M-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096673.1	NM_022366		3	137	0	0	0	0.115264	0	3	137					C	246729167	G	C	246729167	3	2	15	1	0	0	0	0	1	0	0	0	15791	1261	44	5	948	5	TFB2M	1	246729167	Missense_Mutation	SNP	G	TCGA-CH-5740-01A-11D-1576-08	9968965	246729167	2521454	10	599											
OR11L1	391189	broad.mit.edu	37	chr1	248004290	248004290	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccacatttccttctcatgacCtttctaacagcttctttgaa	9	16	3	13	0	3	2	1	2	3	0	5	2	4	2	3	0	2	1	3	0	2	6			TCGA-CH-5740-01A-11D-1576-08	TCGA-CH-5740-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0e1221-01d3-44dc-a762-2084b3a42cc1	bbb53cc1-7aaf-42c9-b4c9-dbaf6864f414	g.chr1:248004290C>A	ENST00000355784.2	-	1	964	c.909G>T	c.(907-909)aaG>aaT	p.K303N		NM_001001959.1	NP_001001959.1	Q8NGX0	O11L1_HUMAN	olfactory receptor, family 11, subfamily L, member 1	303						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.K303N(1)		NS(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57	all_cancers(71;8.78e-05)|all_epithelial(71;9.15e-06)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			TTCTCATGACCTTTCTAACAG	0.378																																						ENST00000355784.2																			1	Substitution - Missense(1)	p.K303N(1)	prostate(1)	NS(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57						c.(907-909)aaG>aaT		olfactory receptor, family 11, subfamily L, member 1							91	87	88					1																	248004290		2203	4300	6503	SO:0001583	missense	391189				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248004290C>A	AB065646	CCDS31098.1	1q44	2013-09-24			ENSG00000197591	ENSG00000197591		"GPCR / Class A : Olfactory receptors"	14998	protein-coding gene	gene with protein product							Standard	NM_001001959		Approved		uc001idn.1	Q8NGX0	OTTHUMG00000040193	ENST00000355784.2:c.909G>T	1.37:g.248004290C>A	ENSP00000348033:p.Lys303Asn						p.K303N	NM_001001959.1	NP_001001959.1	Q8NGX0	O11L1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0319)		1	964	-	all_cancers(71;8.78e-05)|all_epithelial(71;9.15e-06)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)		303						Missense_Mutation	SNP	ENST00000355784.2	37	c.909G>T	CCDS31098.1	.	.	.	.	.	.	.	.	.	.	C	7.104	0.574632	0.13623	.	.	ENSG00000197591	ENST00000355784	T	0.41065	1.01	3.78	1.41	0.22369	.	0.233965	0.21140	U	0.079488	T	0.36413	0.0966	L	0.39566	1.225	0.09310	N	1	P	0.35077	0.483	B	0.42163	0.378	T	0.26292	-1.0107	10	0.56958	D	0.05	.	7.593	0.28031	0.0:0.2833:0.0:0.7167	.	303	Q8NGX0	O11L1_HUMAN	N	303	ENSP00000348033:K303N	ENSP00000348033:K303N	K	-	3	2	OR11L1	246070913	0.000000	0.05858	0.027000	0.17364	0.645000	0.38454	-0.037000	0.12164	0.182000	0.20032	-0.498000	0.04607	AAG		0.378	OR11L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096850.1	NM_001001959		49	57	1	0	9.58827e-17	0.870114	1.10088e-16	49	57					A	248004290	C	A	248004290	3	1	15	1	0	0	0	0	1	0	0	0	10930	680	24	5	63	5	OR11L1	1	248004290	Missense_Mutation	SNP	C	TCGA-CH-5740-01A-11D-1576-08	1275123	248004290	1246331	11	600											
MECOM	2122	broad.mit.edu	37	chr3	168807995	168807995	+	Frame_Shift_Del	DEL	T	T	-																															tttgactggtcaccaaagccTtttcatctttaaaatgactg																										TCGA-CH-5740-01A-11D-1576-08	TCGA-CH-5740-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0e1221-01d3-44dc-a762-2084b3a42cc1	bbb53cc1-7aaf-42c9-b4c9-dbaf6864f414	g.chr3:168807995delT	ENST00000464456.1	-	13	3803	c.2603delA	c.(2602-2604)aagfs	p.K868fs	MECOM_ENST00000433243.2_Frame_Shift_Del_p.K878fs|MECOM_ENST00000392736.3_Frame_Shift_Del_p.K877fs|MECOM_ENST00000264674.3_Frame_Shift_Del_p.K942fs|MECOM_ENST00000494292.1_Frame_Shift_Del_p.K1056fs|MECOM_ENST00000472280.1_Frame_Shift_Del_p.K878fs|MECOM_ENST00000468789.1_Frame_Shift_Del_p.K877fs|MECOM_ENST00000460814.1_Frame_Shift_Del_p.K868fs	NM_001164000.1	NP_001157472.1	Q13465	MDS1_HUMAN	MDS1 and EVI1 complex locus	0					regulation of transcription, DNA-templated (GO:0006355)		sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						CACCAAAGCCTTTTCATCTTT	0.318																																						ENST00000464456.1																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						c.(2602-2604)agfs		MDS1 and EVI1 complex locus							103	104	104					3																	168807995		2203	4299	6502	SO:0001589	frameshift_variant	2122						sequence-specific DNA binding transcription factor activity	g.chr3:168807995delT	S82592, AF164154	CCDS3205.1, CCDS54669.1, CCDS54670.1	3q26.2	2013-01-08	2009-08-07	2009-08-07	ENSG00000085276	ENSG00000085276		"Zinc fingers, C2H2-type"	3498	protein-coding gene	gene with protein product		165215	"myelodysplasia syndrome 1", "ecotropic viral integration site 1"	MDS1, EVI1		2115646, 8171026, 8643684	Standard	NM_001105077		Approved	MDS1-EVI1, PRDM3	uc011bpj.1	Q03112	OTTHUMG00000158596	ENST00000464456.1:c.2603delA	3.37:g.168807995delT	ENSP00000419770:p.Lys868fs					MECOM_ENST00000472280.1_Frame_Shift_Del_p.K878fs|MECOM_ENST00000468789.1_Frame_Shift_Del_p.K877fs|MECOM_ENST00000264674.3_Frame_Shift_Del_p.K942fs|MECOM_ENST00000494292.1_Frame_Shift_Del_p.K1056fs|MECOM_ENST00000460814.1_Frame_Shift_Del_p.K868fs|MECOM_ENST00000392736.3_Frame_Shift_Del_p.K877fs|MECOM_ENST00000433243.2_Frame_Shift_Del_p.K878fs	p.K868fs	NM_001164000.1	NP_001157472.1	Q13465	MDS1_HUMAN			13	3803	-			0					Q13466|Q6FH90	Frame_Shift_Del	DEL	ENST00000464456.1	37	c.2603delA	CCDS54669.1																																																																																				0.318	MECOM-020	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000351519.1	NM_005241, NM_004991		38	286						38	286	---	---	---	---	-	168807995	T	-	168807995	7	5	15	1	0	1	0	1	0	0	0	0	9422	1609	56	0	537	0	MECOM	3	168807995	Frame_Shift_Del	DEL	T	TCGA-CH-5740-01A-11D-1576-08		168807995	29214435	12	601											
CYTL1	54360	broad.mit.edu	37	chr4	5016888	5016888	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcagttcccttagcgctgaCgatctggcaggaccgtagtc	7	10	11	13	3	2	1	1	1	1	0	4	3	3	2	2	2	1	4	2	2	2	3			TCGA-CH-5740-01A-11D-1576-08	TCGA-CH-5740-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0e1221-01d3-44dc-a762-2084b3a42cc1	bbb53cc1-7aaf-42c9-b4c9-dbaf6864f414	g.chr4:5016888C>T	ENST00000307746.4	-	4	427	c.401G>A	c.(400-402)cGt>cAt	p.R134H		NM_018659.2	NP_061129.1	Q9NRR1	CYTL1_HUMAN	cytokine-like 1	134					cartilage homeostasis (GO:1990079)|chondrocyte differentiation (GO:0002062)|chondroitin sulfate proteoglycan biosynthetic process (GO:0050650)|inner ear development (GO:0048839)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|signal transduction (GO:0007165)	extracellular space (GO:0005615)	receptor binding (GO:0005102)	p.R134H(1)		breast(1)|large_intestine(4)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	11				UCEC - Uterine corpus endometrioid carcinoma (64;0.164)		TTAGCGCTGACGATCTGGCAG	0.493																																					Colon(15;457 478 29696 43408 47165)	ENST00000307746.4																			1	Substitution - Missense(1)	p.R134H(1)	prostate(1)	breast(1)|large_intestine(4)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	11						c.(400-402)cGt>cAt		cytokine-like 1							128	115	119					4																	5016888		2203	4300	6503	SO:0001583	missense	54360				signal transduction	extracellular space|soluble fraction	receptor binding	g.chr4:5016888C>T	AF193766	CCDS3379.1	4p16-p15	2007-08-01			ENSG00000170891	ENSG00000170891			24435	protein-coding gene	gene with protein product		607930				10857752	Standard	NM_018659		Approved	C17, C4orf4	uc003gig.3	Q9NRR1	OTTHUMG00000125479	ENST00000307746.4:c.401G>A	4.37:g.5016888C>T	ENSP00000303550:p.Arg134His						p.R134H	NM_018659.2	NP_061129.1	Q9NRR1	CYTL1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.164)	4	427	-			134						Missense_Mutation	SNP	ENST00000307746.4	37	c.401G>A	CCDS3379.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	2.543|2.543	-0.305759|-0.305759	0.05495|0.05495	.|.	.|.	ENSG00000170891|ENSG00000170891	ENST00000307746|ENST00000509419	T|.	0.29655|.	1.56|.	3.67|3.67	-7.34|-7.34	0.01427|0.01427	.|.	2.772270|.	0.00864|.	N|.	0.001945|.	T|T	0.10465|0.10465	0.0256|0.0256	N|N	0.02539|0.02539	-0.55|-0.55	0.09310|0.09310	N|N	1|1	B|.	0.06786|.	0.001|.	B|.	0.04013|.	0.001|.	T|T	0.19679|0.19679	-1.0298|-1.0298	10|5	0.19147|.	T|.	0.46|.	0.151|0.151	5.292|5.292	0.15731|0.15731	0.2008:0.5655:0.1007:0.133|0.2008:0.5655:0.1007:0.133	.|.	134|.	Q9NRR1|.	CYTL1_HUMAN|.	H|I	134|90	ENSP00000303550:R134H|.	ENSP00000303550:R134H|.	R|V	-|-	2|1	0|0	CYTL1|CYTL1	5067789|5067789	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.021000|0.021000	0.10359|0.10359	-3.257000|-3.257000	0.00537|0.00537	-3.061000|-3.061000	0.00256|0.00256	-1.343000|-1.343000	0.01246|0.01246	CGT|GTC		0.493	CYTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246802.1	NM_018659		37	66	0	0	0	0.834066	0	37	66					T	5016888	C	T	5016888	3	4	15	1	0	0	0	0	1	0	0	0	4208	536	19	1	13	1	CYTL1	4	5016888	Missense_Mutation	SNP	C	TCGA-CH-5740-01A-11D-1576-08		5016888	186137388	13	602											
ADAMTS3	9508	broad.mit.edu	37	chr4	73186511	73186511	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cagagtggttgagatcagatCtttgctgttgggacgcccag	8	11	14	8	1	2	3	1	1	1	3	2	5	2	4	1	2	1	3	1	2	0	3			TCGA-CH-5740-01A-11D-1576-08	TCGA-CH-5740-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0e1221-01d3-44dc-a762-2084b3a42cc1	bbb53cc1-7aaf-42c9-b4c9-dbaf6864f414	g.chr4:73186511C>G	ENST00000286657.4	-	7	1058	c.1022G>C	c.(1021-1023)aGa>aCa	p.R341T	RP11-373J21.1_ENST00000503918.1_RNA	NM_014243.2	NP_055058.2	O15072	ATS3_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 3	341	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular fibril organization (GO:0043206)|extracellular matrix organization (GO:0030198)|positive regulation of vascular endothelial growth factor signaling pathway (GO:1900748)|protein processing (GO:0016485)|vascular endothelial growth factor production (GO:0010573)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	endopeptidase activity (GO:0004175)|heparin binding (GO:0008201)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.R341T(2)		NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	76			Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			GAGATCAGATCTTTGCTGTTG	0.443																																					NSCLC(168;1941 2048 2918 13048 43078)	ENST00000286657.4																			2	Substitution - Missense(2)	p.R341T(2)	prostate(2)	NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	76						c.(1021-1023)aGa>aCa		ADAM metallopeptidase with thrombospondin type 1 motif, 3							200	186	191					4																	73186511		2203	4300	6503	SO:0001583	missense	9508				collagen catabolic process|collagen fibril organization|proteolysis	proteinaceous extracellular matrix	heparin binding|metalloendopeptidase activity|zinc ion binding	g.chr4:73186511C>G	AB002364	CCDS3553.1	4q21	2008-07-29	2005-08-19		ENSG00000156140	ENSG00000156140	3.4.24.-	"ADAM metallopeptidases with thrombospondin type 1 motif"	219	protein-coding gene	gene with protein product		605011	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 3"			10094461	Standard	NM_014243		Approved	KIAA0366, ADAMTS-4	uc003hgk.2	O15072	OTTHUMG00000129912	ENST00000286657.4:c.1022G>C	4.37:g.73186511C>G	ENSP00000286657:p.Arg341Thr						p.R341T	NM_014243.2	NP_055058.2	O15072	ATS3_HUMAN	Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		7	1058	-			341			Peptidase M12B.		A1L3U9|Q9BXZ8	Missense_Mutation	SNP	ENST00000286657.4	37	c.1022G>C	CCDS3553.1	.	.	.	.	.	.	.	.	.	.	C	6.338	0.430438	0.12045	.	.	ENSG00000156140	ENST00000286657	D	0.86164	-2.08	6.07	2.44	0.29823	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.178187	0.47455	D	0.000237	T	0.81264	0.4786	N	0.20610	0.595	0.25069	N	0.991007	B	0.27932	0.194	B	0.43658	0.426	T	0.68116	-0.5494	10	0.16420	T	0.52	.	9.2802	0.37725	0.0:0.2005:0.0:0.7995	.	341	O15072	ATS3_HUMAN	T	341	ENSP00000286657:R341T	ENSP00000286657:R341T	R	-	2	0	ADAMTS3	73405375	0.924000	0.31332	0.996000	0.52242	0.036000	0.12997	1.436000	0.34980	0.541000	0.28827	-0.793000	0.03317	AGA		0.443	ADAMTS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252164.2			10	227	0	0	0	0.361761	0	10	227					G	73186511	C	G	73186511	3	3	15	1	0	0	0	0	1	0	0	0	267	913	32	5	2659	5	ADAMTS3	4	73186511	Missense_Mutation	SNP	C	TCGA-CH-5740-01A-11D-1576-08	68169623	73186511	117967765	14	603											
FAT4	79633	broad.mit.edu	37	chr4	126373735	126373735	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caagtgtctgccaggatatgCgggtagctggtgtgaaatag	10	10	15	6	1	1	1	0	1	1	0	1	2	1	2	1	3	3	2	1	3	5	3	rs536513777		TCGA-CH-5740-01A-11D-1576-08	TCGA-CH-5740-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0e1221-01d3-44dc-a762-2084b3a42cc1	bbb53cc1-7aaf-42c9-b4c9-dbaf6864f414	g.chr4:126373735C>T	ENST00000394329.3	+	9	11577	c.11564C>T	c.(11563-11565)gCg>gTg	p.A3855V	FAT4_ENST00000335110.5_Missense_Mutation_p.A2153V	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	3855	EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00076}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.A3855V(2)		NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						CCAGGATATGCGGGTAGCTGG	0.473													C|||	1	0.000199681	0	0	5008	,	,		20817	0.001		0	False		,,,				2504	0					ENST00000394329.3																			2	Substitution - Missense(2)	p.A3855V(2)	prostate(2)	NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						c.(11563-11565)gCg>gTg		FAT atypical cadherin 4							89	89	89					4																	126373735		2203	4300	6503	SO:0001583	missense	79633				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:126373735C>T	AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"Cadherins / Cadherin-related"	23109	protein-coding gene	gene with protein product	"cadherin-related family member 11"	612411	"FAT tumor suppressor homolog 4 (Drosophila)"			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.11564C>T	4.37:g.126373735C>T	ENSP00000377862:p.Ala3855Val					FAT4_ENST00000335110.5_Missense_Mutation_p.A2153V	p.A3855V	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN			9	11577	+			3855			EGF-like 1.		A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Missense_Mutation	SNP	ENST00000394329.3	37	c.11564C>T	CCDS3732.3	.	.	.	.	.	.	.	.	.	.	C	11.18	1.563763	0.27915	.	.	ENSG00000196159	ENST00000394329;ENST00000335110	D;D	0.91792	-2.91;-2.39	5.41	5.41	0.78517	Epidermal growth factor-like (1);EGF-like region, conserved site (2);Epidermal growth factor-like, type 3 (1);	0.627735	0.12030	U	0.506062	T	0.82056	0.4954	N	0.11023	0.085	0.09310	N	1	P;P;P	0.37997	0.516;0.614;0.516	B;B;B	0.28139	0.086;0.038;0.086	T	0.73701	-0.3900	10	0.37606	T	0.19	.	12.3484	0.55134	0.285:0.715:0.0:0.0	.	2153;3855;3855	Q6V0I7-2;Q6V0I7;Q6V0I7-3	.;FAT4_HUMAN;.	V	3855;2153	ENSP00000377862:A3855V;ENSP00000335169:A2153V	ENSP00000335169:A2153V	A	+	2	0	FAT4	126593185	0.206000	0.23470	0.011000	0.14972	0.505000	0.33919	3.842000	0.55858	2.527000	0.85204	0.561000	0.74099	GCG		0.473	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582		3	73	0	0	0	0.150653	0	3	73					T	126373735	C	T	126373735	3	4	15	1	0	0	0	0	1	0	0	0	5692	768	27	1	11598	1	FAT4	4	126373735	Missense_Mutation	SNP	C	TCGA-CH-5740-01A-11D-1576-08	53187224	126373735	64780541	15	604											
EFHC1	114327	broad.mit.edu	37	chr6	52285247	52285247	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	catggcttgccctttcttccGggcacgtcctttaaggactc	5	13	9	14	2	1	0	0	0	1	0	4	1	3	1	3	3	1	2	3	3	1	5			TCGA-CH-5740-01A-11D-1576-08	TCGA-CH-5740-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0e1221-01d3-44dc-a762-2084b3a42cc1	bbb53cc1-7aaf-42c9-b4c9-dbaf6864f414	g.chr6:52285247G>A	ENST00000371068.5	+	1	142	c.39G>A	c.(37-39)ccG>ccA	p.P13P	EFHC1_ENST00000491749.1_3'UTR|EFHC1_ENST00000433625.2_5'UTR	NM_018100.3	NP_060570.2	Q5JVL4	EFHC1_HUMAN	EF-hand domain (C-terminal) containing 1	13						axoneme (GO:0005930)|neuronal cell body (GO:0043025)	calcium ion binding (GO:0005509)|protein C-terminus binding (GO:0008022)	p.P13P(1)		breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(8)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	27	Lung NSC(77;0.109)					CCTTTCTTCCGGGCACGTCCT	0.622																																						ENST00000371068.5																			1	Substitution - coding silent(1)	p.P13P(1)	prostate(1)	breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(8)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	27						c.(37-39)ccG>ccA		EF-hand domain (C-terminal) containing 1							209	149	169					6																	52285247		2203	4300	6503	SO:0001819	synonymous_variant	114327					axoneme|neuronal cell body	calcium ion binding|protein C-terminus binding	g.chr6:52285247G>A	AK001328	CCDS4942.1, CCDS55021.1	6p12.3	2014-02-04			ENSG00000096093	ENSG00000096093		"EF-hand domain containing"	16406	protein-coding gene	gene with protein product	"myoclonin-1"	608815	"epilepsy, juvenile myoclonic 1"	EJM1, EJM		15258581	Standard	NM_018100		Approved	FLJ10466	uc003pap.4	Q5JVL4	OTTHUMG00000014848	ENST00000371068.5:c.39G>A	6.37:g.52285247G>A						EFHC1_ENST00000433625.2_5'UTR|EFHC1_ENST00000491749.1_3'UTR	p.P13P	NM_018100.3	NP_060570.2	Q5JVL4	EFHC1_HUMAN			1	142	+	Lung NSC(77;0.109)		13					B4DMU3|F5GZD8|Q5XKM4|Q6E1U7|Q6E1U8|Q8WUL2|Q9NVW6	Silent	SNP	ENST00000371068.5	37	c.39G>A	CCDS4942.1																																																																																				0.622	EFHC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040905.2	NM_018100		3	72	0	0	0	0.115264	0	3	72					A	52285247	G	A	52285247	2	1	15	1	0	0	0	0	0	0	0	1	4946	1103	39	2		2	EFHC1	6	52285247	Silent	SNP	G	TCGA-CH-5740-01A-11D-1576-08		52285247	118829820	16	605											
MYO6	4646	broad.mit.edu	37	chr6	76604978	76604978	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acaagacccaaaatgacaccGtatgtcacttacctttacct	14	10	4	13	1	1	2	1	1	0	1	1	2	1	2	4	0	2	1	4	0	6	4	rs200713129		TCGA-CH-5740-01A-11D-1576-08	TCGA-CH-5740-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0e1221-01d3-44dc-a762-2084b3a42cc1	bbb53cc1-7aaf-42c9-b4c9-dbaf6864f414	g.chr6:76604978G>A	ENST00000369977.3	+	29	3276		c.e29+1		MYO6_ENST00000369975.1_Intron|MYO6_ENST00000369981.3_Splice_Site|MYO6_ENST00000369985.4_Intron	NM_004999.3	NP_004990.3	Q9UM54	MYO6_HUMAN	myosin VI						actin filament-based movement (GO:0030048)|auditory receptor cell differentiation (GO:0042491)|cellular response to electrical stimulus (GO:0071257)|dendrite development (GO:0016358)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|endocytosis (GO:0006897)|glutamate secretion (GO:0014047)|inner ear morphogenesis (GO:0042472)|intracellular protein transport (GO:0006886)|locomotory behavior (GO:0007626)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein targeting (GO:0006605)|regulation of secretion (GO:0051046)|regulation of synaptic plasticity (GO:0048167)|response to drug (GO:0042493)|sensory perception of sound (GO:0007605)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	apical part of cell (GO:0045177)|axon (GO:0030424)|cell cortex (GO:0005938)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|endocytic vesicle (GO:0030139)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|microvillus (GO:0005902)|neuronal cell body (GO:0043025)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|ruffle membrane (GO:0032587)|unconventional myosin complex (GO:0016461)|vesicle membrane (GO:0012506)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|minus-end directed microfilament motor activity (GO:0060001)|motor activity (GO:0003774)	p.?(1)		breast(2)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(16)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	58		all_hematologic(105;0.189)		BRCA - Breast invasive adenocarcinoma(397;0.223)		AAATGACACCGTATGTCACTT	0.289																																						ENST00000369981.3																			1	Unknown(1)	p.?(1)	prostate(1)	breast(2)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(16)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						c.e30+1		myosin VI		G		2,4404	4.2+/-10.8	0,2,2201	75	68	70			4.6	1	6		70	0,8584		0,0,4292	no	splice-5	MYO6	NM_004999.3		0,2,6493	AA,AG,GG		0.0,0.0454,0.0154			76604978	2,12988	2203	4292	6495	SO:0001630	splice_region_variant	4646				actin filament-based movement|DNA damage response, signal transduction by p53 class mediator|endocytosis|intracellular protein transport|positive regulation of transcription from RNA polymerase II promoter|regulation of secretion|sensory perception of sound|synaptic transmission	cell cortex|clathrin coated vesicle membrane|coated pit|cytosol|DNA-directed RNA polymerase II, holoenzyme|filamentous actin|Golgi apparatus|nuclear membrane|perinuclear region of cytoplasm|ruffle membrane|unconventional myosin complex	actin filament binding|ADP binding|ATP binding|calmodulin binding|minus-end directed microfilament motor activity|protein binding	g.chr6:76604978G>A	U90236, AB002387	CCDS34487.1, CCDS75481.1	6q14.1	2014-09-17	2004-05-19		ENSG00000196586	ENSG00000196586		"Myosins / Myosin superfamily : Class VI"	7605	protein-coding gene	gene with protein product		600970	"deafness, autosomal recessive 37"	DFNA22, DFNB37		9259267, 11468689	Standard	XM_005248719		Approved	KIAA0389	uc003pih.1	Q9UM54	OTTHUMG00000015061	ENST00000369977.3:c.3137+1G>A	6.37:g.76604978G>A						MYO6_ENST00000369975.1_Intron|MYO6_ENST00000369985.4_Intron|MYO6_ENST00000369977.3_Splice_Site				Q9UM54	MYO6_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.223)	30	3446	+		all_hematologic(105;0.189)						A6H8V4|E1P540|Q5TEM5|Q5TEM6|Q5TEM7|Q9BZZ7|Q9UEG2	Splice_Site	SNP	ENST00000369977.3	37		CCDS34487.1	.	.	.	.	.	.	.	.	.	.	G	16.32	3.091514	0.55968	4.54E-4	0.0	ENSG00000196586	ENST00000428345;ENST00000369981;ENST00000369977;ENST00000430435	.	.	.	4.61	4.61	0.57282	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.4979	0.84250	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	MYO6	76661698	1.000000	0.71417	1.000000	0.80357	0.709000	0.40893	5.693000	0.68264	2.507000	0.84556	0.591000	0.81541	.		0.289	MYO6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041279.2	NM_004999	Intron	42	91	0	0	0	0.859065	0	42	91					A	76604978	G	A	76604978	5	1	15	1	0	0	0	0	0	0	1	0	10081	1159	40	1	3248	1	MYO6	6	76604978	Splice_Site	SNP	G	TCGA-CH-5740-01A-11D-1576-08	24319731	76604978	94510089	17	606											
C6orf182	285753	broad.mit.edu	37	chr6	109476463	109476466	+	Frame_Shift_Del	DEL	AAGG	AAGG	-																															aacatttagaagaaaaacttAaggaagaagaacatcagcgt																										TCGA-CH-5740-01A-11D-1576-08	TCGA-CH-5740-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0e1221-01d3-44dc-a762-2084b3a42cc1	bbb53cc1-7aaf-42c9-b4c9-dbaf6864f414	g.chr6:109476463_109476466delAAGG	ENST00000517392.1	+	6	1036_1039	c.610_613delAAGG	c.(610-615)aaggaafs	p.KE204fs	CEP57L1_ENST00000407272.1_Frame_Shift_Del_p.KE204fs|CEP57L1_ENST00000368970.2_Frame_Shift_Del_p.KE204fs|CEP57L1_ENST00000368968.2_Frame_Shift_Del_p.KE204fs|CEP57L1_ENST00000523787.1_Frame_Shift_Del_p.KE207fs|CEP57L1_ENST00000359793.3_Frame_Shift_Del_p.KE204fs|CEP57L1_ENST00000521277.1_Frame_Shift_Del_p.KE188fs|CEP57L1_ENST00000336977.4_Frame_Shift_Del_p.KE128fs|CEP57L1_ENST00000519095.1_Frame_Shift_Del_p.KE204fs|CEP57L1_ENST00000521522.1_Frame_Shift_Del_p.KE204fs|CEP57L1_ENST00000520883.1_Frame_Shift_Del_p.KE128fs	NM_001271852.1|NM_001271853.1	NP_001258781.1|NP_001258782.1	Q8IYX8	CE57L_HUMAN	centrosomal protein 57kDa-like 1	204					microtubule anchoring (GO:0034453)	cytoplasm (GO:0005737)|microtubule (GO:0005874)				endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)	11						AGAAAAACTTAAGGAAGAAGAACA	0.275																																						ENST00000521277.1																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)	11						c.(562-567)aafs		centrosomal protein 57kDa-like 1																																				SO:0001589	frameshift_variant	285753					microtubule|microtubule organizing center		g.chr6:109476463_109476466delAAGG	AK092723	CCDS5071.1, CCDS64491.1	6q21	2014-01-28	2010-09-30	2010-09-30	ENSG00000183137	ENSG00000183137			21561	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 182"	C6orf182			Standard	NM_001083535		Approved	bA487F23.2, MGC21731	uc003psy.4	Q8IYX8	OTTHUMG00000015336	ENST00000517392.1:c.610_613delAAGG	6.37:g.109476463_109476466delAAGG	ENSP00000427844:p.Lys204fs					CEP57L1_ENST00000407272.1_Frame_Shift_Del_p.KE204fs|CEP57L1_ENST00000519095.1_Frame_Shift_Del_p.KE204fs|CEP57L1_ENST00000520883.1_Frame_Shift_Del_p.KE128fs|CEP57L1_ENST00000368968.2_Frame_Shift_Del_p.KE204fs|CEP57L1_ENST00000359793.3_Frame_Shift_Del_p.KE204fs|CEP57L1_ENST00000517392.1_Frame_Shift_Del_p.KE204fs|CEP57L1_ENST00000336977.4_Frame_Shift_Del_p.KE128fs|CEP57L1_ENST00000523787.1_Frame_Shift_Del_p.KE207fs|CEP57L1_ENST00000521522.1_Frame_Shift_Del_p.KE204fs|CEP57L1_ENST00000368970.2_Frame_Shift_Del_p.KE204fs	p.KE188fs			Q8IYX8	CE57L_HUMAN			7	1087_1090	+			204					G5E992	Frame_Shift_Del	DEL	ENST00000517392.1	37	c.562_565delAAGG	CCDS5071.1																																																																																				0.275	CEP57L1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000041734.4	NM_173830		33	134						33	134	---	---	---	---	-	109476466	AAGG	-	109476463	7	5	15	1	0	1	0	1	0	0	0	0	2346	363	13	0	628	0	C6orf182	6	109476463	Frame_Shift_Del	DEL	AAGG	TCGA-CH-5740-01A-11D-1576-08	32871485	109476463	61638604	18	607											
SMPDL3A	10924	broad.mit.edu	37	chr6	123127429	123127429	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctgttacaccagtgaagaGtgttttagaaaaacagacca	15	10	9	7	0	0	4	0	1	0	3	0	4	0	4	2	0	3	3	2	0	5	3			TCGA-CH-5740-01A-11D-1576-08	TCGA-CH-5740-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0e1221-01d3-44dc-a762-2084b3a42cc1	bbb53cc1-7aaf-42c9-b4c9-dbaf6864f414	g.chr6:123127429G>A	ENST00000368440.4	+	7	1148	c.971G>A	c.(970-972)aGt>aAt	p.S324N	SMPDL3A_ENST00000539041.1_Missense_Mutation_p.S193N	NM_006714.3	NP_006705.1	Q92484	ASM3A_HUMAN	sphingomyelin phosphodiesterase, acid-like 3A	324					sphingomyelin catabolic process (GO:0006685)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	hydrolase activity, acting on glycosyl bonds (GO:0016798)|sphingomyelin phosphodiesterase activity (GO:0004767)	p.S324N(1)		breast(1)|cervix(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	10				GBM - Glioblastoma multiforme(226;0.236)		CCAGTGAAGAGTGTTTTAGAA	0.358																																						ENST00000368440.4																			1	Substitution - Missense(1)	p.S324N(1)	prostate(1)	breast(1)|cervix(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	10						c.(970-972)aGt>aAt		sphingomyelin phosphodiesterase, acid-like 3A							117	118	118					6																	123127429		2203	4300	6503	SO:0001583	missense	10924				sphingomyelin catabolic process	extracellular space	hydrolase activity, acting on glycosyl bonds|protein binding|sphingomyelin phosphodiesterase activity	g.chr6:123127429G>A	AK000184	CCDS5128.1, CCDS69190.1	6q22.32	2006-04-12			ENSG00000172594	ENSG00000172594			17389	protein-coding gene	gene with protein product	"acid sphingomyelinase-like phosphodiesterase 3a"	610728				12442002	Standard	XM_005266798		Approved	FLJ20177, ASM3A, ASML3a, yR36GH4.1	uc003pzg.3	Q92484	OTTHUMG00000015490	ENST00000368440.4:c.971G>A	6.37:g.123127429G>A	ENSP00000357425:p.Ser324Asn					SMPDL3A_ENST00000539041.1_Missense_Mutation_p.S193N	p.S324N	NM_006714.3	NP_006705.1	Q92484	ASM3A_HUMAN		GBM - Glioblastoma multiforme(226;0.236)	7	1148	+			324					B7Z729|Q8WV13	Missense_Mutation	SNP	ENST00000368440.4	37	c.971G>A	CCDS5128.1	.	.	.	.	.	.	.	.	.	.	G	5.067	0.197982	0.09652	.	.	ENSG00000172594	ENST00000368440;ENST00000539041	D;D	0.85484	-1.99;-1.99	5.76	-3.55	0.04639	.	1.084690	0.06736	N	0.777442	T	0.47002	0.1422	L	0.27053	0.805	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.44877	-0.9299	10	0.02654	T	1	-0.2303	8.1448	0.31104	0.5168:0.1822:0.301:0.0	.	324	Q92484	ASM3A_HUMAN	N	324;193	ENSP00000357425:S324N;ENSP00000442152:S193N	ENSP00000357425:S324N	S	+	2	0	SMPDL3A	123169128	0.004000	0.15560	0.000000	0.03702	0.170000	0.22686	-0.223000	0.09177	-0.589000	0.05874	-1.105000	0.02106	AGT		0.358	SMPDL3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042039.1	NM_006714		14	124	0	0	0	0.435327	0	14	124					A	123127429	G	A	123127429	3	1	15	1	0	0	0	0	1	0	0	0	14808	1029	36	3	997	3	SMPDL3A	6	123127429	Missense_Mutation	SNP	G	TCGA-CH-5740-01A-11D-1576-08	13650966	123127429	47987638	19	608											
SYNE1	23345	broad.mit.edu	37	chr6	152831401	152831401	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gatcttggtggtcaccttccGtttacttggtgggctgggag	4	14	15	8	1	2	0	1	0	1	0	3	2	3	1	2	5	1	2	2	5	1	5			TCGA-CH-5740-01A-11D-1576-08	TCGA-CH-5740-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0e1221-01d3-44dc-a762-2084b3a42cc1	bbb53cc1-7aaf-42c9-b4c9-dbaf6864f414	g.chr6:152831401G>A	ENST00000367255.5	-	8	1109	c.508C>T	c.(508-510)Cgg>Tgg	p.R170W	SYNE1_ENST00000448038.1_Missense_Mutation_p.R177W|SYNE1_ENST00000413186.2_Missense_Mutation_p.R170W|SYNE1_ENST00000466159.2_Missense_Mutation_p.R170W|SYNE1_ENST00000341594.5_Missense_Mutation_p.R170W|SYNE1_ENST00000367248.3_Missense_Mutation_p.R177W|SYNE1_ENST00000265368.4_Missense_Mutation_p.R170W|SYNE1_ENST00000367253.4_Missense_Mutation_p.R170W|SYNE1_ENST00000423061.1_Missense_Mutation_p.R177W	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	170	Actin-binding.				cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)	p.R170W(7)		NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		GTCACCTTCCGTTTACTTGGT	0.483										HNSCC(10;0.0054)																												ENST00000367255.5																			7	Substitution - Missense(7)	p.R170W(7)	large_intestine(4)|prostate(3)	NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524						c.(508-510)Cgg>Tgg		spectrin repeat containing, nuclear envelope 1							195	175	182					6																	152831401		2203	4300	6503	SO:0001583	missense	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152831401G>A	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"myocyte nuclear envelope protein 1", "nuclear envelope spectrin repeat-1"	608441	"chromosome 6 open reading frame 98"	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.508C>T	6.37:g.152831401G>A	ENSP00000356224:p.Arg170Trp	HNSCC(10;0.0054)				SYNE1_ENST00000466159.2_Missense_Mutation_p.R170W|SYNE1_ENST00000413186.2_Missense_Mutation_p.R170W|SYNE1_ENST00000341594.5_Missense_Mutation_p.R170W|SYNE1_ENST00000367248.3_Missense_Mutation_p.R177W|SYNE1_ENST00000448038.1_Missense_Mutation_p.R177W|SYNE1_ENST00000367253.4_Missense_Mutation_p.R170W|SYNE1_ENST00000423061.1_Missense_Mutation_p.R177W|SYNE1_ENST00000265368.4_Missense_Mutation_p.R170W	p.R170W	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	8	1109	-		Ovarian(120;0.0955)	170			Actin-binding.		E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	c.508C>T	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	G	16.98	3.271820	0.59649	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000367253;ENST00000367248;ENST00000413186;ENST00000466159;ENST00000537750	T;T;T;T;T;D;D;D;D;D	0.92348	0.32;0.31;0.22;0.31;0.47;-2.46;-2.58;-2.59;-2.83;-3.02	5.66	1.3	0.21679	Calponin homology domain (1);	0.118151	0.37219	N	0.002183	D	0.94889	0.8348	M	0.83774	2.66	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.999;0.999;0.998;0.999;1.0	D	0.95353	0.8448	10	0.72032	D	0.01	.	14.8467	0.70264	0.0:0.0:0.52:0.4799	.	170;170;170;170;177	B3W695;Q8NF91;F5H4Q0;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.;.	W	170;177;170;177;170;170;177;170;170;170	ENSP00000356224:R170W;ENSP00000396024:R177W;ENSP00000265368:R170W;ENSP00000390975:R177W;ENSP00000341887:R170W;ENSP00000356222:R170W;ENSP00000356217:R177W;ENSP00000414510:R170W;ENSP00000446021:R170W;ENSP00000441264:R170W	ENSP00000265368:R170W	R	-	1	2	SYNE1	152873094	0.978000	0.34361	0.672000	0.29872	0.750000	0.42670	1.413000	0.34725	0.686000	0.31488	-0.202000	0.12741	CGG		0.483	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		6	306	0	0	0	0.217242	0	6	306					A	152831401	G	A	152831401	3	1	15	1	0	0	0	0	1	0	0	0	15442	1144	40	1	26514	1	SYNE1	6	152831401	Missense_Mutation	SNP	G	TCGA-CH-5740-01A-11D-1576-08	29703972	152831401	18283666	20	609											
INMT	11185	broad.mit.edu	37	chr7	30793464	30793464	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgactttaccgaccgcaaccGggaggagctggaaaagtggc	11	5	14	11	4	0	0	0	0	0	0	0	5	0	3	3	4	3	2	3	4	4	2	rs200629016		TCGA-CH-5740-01A-11D-1576-08	TCGA-CH-5740-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0e1221-01d3-44dc-a762-2084b3a42cc1	bbb53cc1-7aaf-42c9-b4c9-dbaf6864f414	g.chr7:30793464G>A	ENST00000013222.5	+	2	288	c.272G>A	c.(271-273)cGg>cAg	p.R91Q	INMT_ENST00000409539.1_Missense_Mutation_p.R90Q|INMT-FAM188B_ENST00000458257.1_Missense_Mutation_p.R90Q|INMT_ENST00000484180.1_3'UTR	NM_001199219.1|NM_006774.4	NP_001186148.1|NP_006765.4	O95050	INMT_HUMAN	indolethylamine N-methyltransferase	91					amine metabolic process (GO:0009308)|methylation (GO:0032259)|response to toxic substance (GO:0009636)	cytosol (GO:0005829)	amine N-methyltransferase activity (GO:0030748)|thioether S-methyltransferase activity (GO:0004790)	p.R91Q(1)		kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|stomach(1)	23						GACCGCAACCGGGAGGAGCTG	0.557																																						ENST00000458257.1																			1	Substitution - Missense(1)	p.R91Q(1)	prostate(1)								c.(268-270)cGg>cAg				G	GLN/ARG,GLN/ARG	2,4404	4.2+/-10.8	0,2,2201	142	146	145		269,272	-0.6	0.3	7		145	2,8598	2.2+/-6.3	0,2,4298	yes	missense,missense	INMT	NM_001199219.1,NM_006774.4	43,43	0,4,6499	AA,AG,GG		0.0233,0.0454,0.0308	probably-damaging,probably-damaging	90/263,91/264	30793464	4,13002	2203	4300	6503	SO:0001583	missense	0							g.chr7:30793464G>A		CCDS5430.1, CCDS56479.1	7p14.3	2011-08-30			ENSG00000241644	ENSG00000241644	2.1.1.49		6069	protein-coding gene	gene with protein product		604854				10552930	Standard	NM_001199219		Approved		uc003tbs.1	O95050	OTTHUMG00000167163	ENST00000013222.5:c.272G>A	7.37:g.30793464G>A	ENSP00000013222:p.Arg91Gln					INMT_ENST00000484180.1_3'UTR|INMT_ENST00000409539.1_Missense_Mutation_p.R90Q|INMT_ENST00000013222.5_Missense_Mutation_p.R91Q	p.R90Q							2	283	+								B8ZZ69|Q3KP49|Q9P1Y2|Q9UBY4|Q9UHQ0	Missense_Mutation	SNP	ENST00000013222.5	37	c.269G>A	CCDS5430.1	.	.	.	.	.	.	.	.	.	.	G	13.63	2.293482	0.40594	4.54E-4	2.33E-4	ENSG00000241644	ENST00000013222;ENST00000409539	T;T	0.10099	2.91;2.91	3.69	-0.654	0.11443	.	0.334565	0.21689	N	0.070611	T	0.13756	0.0333	M	0.80183	2.485	0.45172	D	0.998189	D;D	0.63046	0.992;0.992	B;B	0.43123	0.409;0.409	T	0.09079	-1.0691	10	0.46703	T	0.11	-16.0083	7.7039	0.28638	0.0:0.1441:0.3853:0.4706	.	90;91	B8ZZ69;O95050	.;INMT_HUMAN	Q	91;90	ENSP00000013222:R91Q;ENSP00000386961:R90Q	ENSP00000013222:R91Q	R	+	2	0	INMT	30759989	0.909000	0.30893	0.253000	0.24343	0.026000	0.11368	0.976000	0.29462	-0.277000	0.09193	0.561000	0.74099	CGG		0.557	INMT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214993.3	NM_006774		6	407	0	0	0	0.27861	0	6	407					A	30793464	G	A	30793464	3	1	15	1	0	0	0	0	1	0	0	0	7745	1116	39	2	278	2	INMT	7	30793464	Missense_Mutation	SNP	G	TCGA-CH-5740-01A-11D-1576-08		30793464	128345199	21	610											
MEPCE	56257	broad.mit.edu	37	chr7	100028387	100028387	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacttgcactgatgagggccAtgtagttcttgcttcgccac	7	13	10	11	1	1	2	0	2	1	0	2	2	1	2	2	1	3	4	2	1	2	6			TCGA-CH-5740-01A-11D-1576-08	TCGA-CH-5740-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0e1221-01d3-44dc-a762-2084b3a42cc1	bbb53cc1-7aaf-42c9-b4c9-dbaf6864f414	g.chr7:100028387A>C	ENST00000310512.2	+	1	1134	c.746A>C	c.(745-747)cAt>cCt	p.H249P	ZCWPW1_ENST00000360951.4_5'Flank|ZCWPW1_ENST00000324725.6_5'Flank|ZCWPW1_ENST00000398027.2_5'Flank|MEPCE_ENST00000414441.1_5'UTR	NM_019606.5	NP_062552.2	Q7L2J0	MEPCE_HUMAN	methylphosphate capping enzyme	249					negative regulation of chromatin binding (GO:0035562)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|RNA methylation (GO:0001510)|snRNA metabolic process (GO:0016073)|snRNA modification (GO:0040031)		poly(A) RNA binding (GO:0044822)|RNA methyltransferase activity (GO:0008173)|S-adenosylmethionine-dependent methyltransferase activity (GO:0008757)	p.H249P(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(2)|lung(9)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GATGAGGGCCATGTAGTTCTT	0.582																																						ENST00000310512.2																			1	Substitution - Missense(1)	p.H249P(1)	prostate(1)	breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(2)|lung(9)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24						c.(745-747)cAt>cCt		methylphosphate capping enzyme							137	149	145					7																	100028387		2203	4300	6503	SO:0001583	missense	56257						methyltransferase activity	g.chr7:100028387A>C	AF264752	CCDS5693.1, CCDS55136.1	7q22.1	2008-02-04	2007-07-26	2007-07-26	ENSG00000146834	ENSG00000146834			20247	protein-coding gene	gene with protein product		611478	"bin3, bicoid-interacting 3, homolog (Drosophila)"	BCDIN3		12358911, 17643375	Standard	NM_019606		Approved	FLJ20257, MePCE	uc003uuw.3	Q7L2J0	OTTHUMG00000155255	ENST00000310512.2:c.746A>C	7.37:g.100028387A>C	ENSP00000308546:p.His249Pro					MEPCE_ENST00000414441.1_5'UTR	p.H249P	NM_019606.5	NP_062552.2	Q7L2J0	MEPCE_HUMAN			1	1134	+	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		249					B3KP86|D6W5V7|Q9NPD4	Missense_Mutation	SNP	ENST00000310512.2	37	c.746A>C	CCDS5693.1	.	.	.	.	.	.	.	.	.	.	A	10.24	1.295507	0.23564	.	.	ENSG00000146834	ENST00000310512	.	.	.	4.49	4.49	0.54785	.	0.415949	0.23670	N	0.045729	T	0.16938	0.0407	N	0.08118	0	0.27166	N	0.961049	B	0.14012	0.009	B	0.14578	0.011	T	0.09530	-1.0670	9	0.27082	T	0.32	-16.6629	6.6157	0.22776	0.8943:0.0:0.1057:0.0	.	249	Q7L2J0	MEPCE_HUMAN	P	249	.	ENSP00000308546:H249P	H	+	2	0	MEPCE	99866323	0.999000	0.42202	0.994000	0.49952	0.978000	0.69477	4.014000	0.57145	1.895000	0.54865	0.260000	0.18958	CAT		0.582	MEPCE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339135.1			18	291	0	0	0	0.557998	0	18	291					C	100028387	A	C	100028387	3	2	15	1	0	0	0	0	1	0	0	0	9477	217	8	5	748	5	MEPCE	7	100028387	Missense_Mutation	SNP	A	TCGA-CH-5740-01A-11D-1576-08	69234923	100028387	59110276	22	611											
VGF	7425	broad.mit.edu	37	chr7	100807590	100807590	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	cgtctctgctgccgccgtctCctgctggcgcttggcgctac	1	11	12	17	5	2	0	0	0	2	0	4	0	2	0	3	2	4	4	3	2	1	2			TCGA-CH-5740-01A-11D-1576-08	TCGA-CH-5740-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0e1221-01d3-44dc-a762-2084b3a42cc1	bbb53cc1-7aaf-42c9-b4c9-dbaf6864f414	g.chr7:100807590C>G	ENST00000249330.2	-	2	774	c.535G>C	c.(535-537)Gag>Cag	p.E179Q	VGF_ENST00000445482.2_Missense_Mutation_p.E179Q	NM_003378.3	NP_003369.2	O15240	VGF_HUMAN	VGF nerve growth factor inducible	179					defense response to bacterium (GO:0042742)|generation of precursor metabolites and energy (GO:0006091)|glucose homeostasis (GO:0042593)|insulin secretion (GO:0030073)|ovarian follicle development (GO:0001541)|response to cAMP (GO:0051591)|response to cold (GO:0009409)|response to dietary excess (GO:0002021)|response to insulin (GO:0032868)|sexual reproduction (GO:0019953)	cytoplasmic vesicle (GO:0031410)|extracellular space (GO:0005615)		p.E179Q(1)		cervix(1)|large_intestine(1)|lung(4)|prostate(2)|skin(1)	9	Lung NSC(181;0.168)|all_lung(186;0.215)					GCCGCCGTCTCCTGCTGGCGC	0.672																																						ENST00000249330.2																			1	Substitution - Missense(1)	p.E179Q(1)	prostate(1)	cervix(1)|large_intestine(1)|lung(4)|prostate(2)|skin(1)	9						c.(535-537)Gag>Cag		VGF nerve growth factor inducible							33	34	34					7																	100807590		2149	4219	6368	SO:0001583	missense	7425				response to cAMP	extracellular space|transport vesicle	growth factor activity	g.chr7:100807590C>G	Y12661	CCDS5712.1	7q22	2008-07-18			ENSG00000128564	ENSG00000128564			12684	protein-coding gene	gene with protein product	"neuro-endocrine specific protein VGF"	602186				9344675	Standard	NM_003378		Approved		uc003uxx.4	O15240	OTTHUMG00000157109	ENST00000249330.2:c.535G>C	7.37:g.100807590C>G	ENSP00000249330:p.Glu179Gln					VGF_ENST00000445482.2_Missense_Mutation_p.E179Q	p.E179Q	NM_003378.3	NP_003369.2	O15240	VGF_HUMAN			2	774	-	Lung NSC(181;0.168)|all_lung(186;0.215)		179					Q9UDW8	Missense_Mutation	SNP	ENST00000249330.2	37	c.535G>C	CCDS5712.1	.	.	.	.	.	.	.	.	.	.	C	14.32	2.501199	0.44455	.	.	ENSG00000128564	ENST00000249330;ENST00000448792;ENST00000445482	.	.	.	5.09	5.09	0.68999	.	0.111853	0.35646	N	0.003063	T	0.41442	0.1159	N	0.19112	0.55	0.31043	N	0.716071	D	0.56968	0.978	P	0.53649	0.731	T	0.49428	-0.8941	9	0.87932	D	0	-10.3519	13.9824	0.64313	0.0:1.0:0.0:0.0	.	179	O15240	VGF_HUMAN	Q	179	.	ENSP00000249330:E179Q	E	-	1	0	VGF	100594310	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	3.435000	0.52849	2.387000	0.81309	0.561000	0.74099	GAG		0.672	VGF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347462.1	NM_003378		3	80	0	0	0	0.184627	0	3	80					G	100807590	C	G	100807590	3	3	15	1	0	0	0	0	1	0	0	0	17154	864	30	5	1316	5	VGF	7	100807590	Missense_Mutation	SNP	C	TCGA-CH-5740-01A-11D-1576-08	779203	100807590	58331073	23	612											
KLF10	7071	broad.mit.edu	37	chr8	103664291	103664291	+	Splice_Site	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgtaaggtggagtcaaacacTaaagaaaagggaaatacata	20	7	10	4	0	1	1	1	0	0	1	1	3	1	3	0	3	2	1	0	3	9	4			TCGA-CH-5740-01A-11D-1576-08	TCGA-CH-5740-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0e1221-01d3-44dc-a762-2084b3a42cc1	bbb53cc1-7aaf-42c9-b4c9-dbaf6864f414	g.chr8:103664291T>A	ENST00000285407.6	-	3	571		c.e3-2		KLF10_ENST00000395884.3_Splice_Site	NM_005655.2	NP_005646.1	Q13118	KLF10_HUMAN	Kruppel-like factor 10						bone mineralization (GO:0030282)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|cellular response to peptide (GO:1901653)|cellular response to starvation (GO:0009267)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of osteoclast differentiation (GO:0045672)|regulation of circadian rhythm (GO:0042752)|skeletal system development (GO:0001501)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.?(1)		cervix(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|prostate(3)	18	all_epithelial(15;5.63e-07)|Lung NSC(17;8.18e-05)|all_lung(17;0.000169)		OV - Ovarian serous cystadenocarcinoma(57;0.000112)|STAD - Stomach adenocarcinoma(118;0.0826)			AGTCAAACACTAAAGAAAAGG	0.333											OREG0018913	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									Esophageal Squamous(16;495 519 2144 16528 44005)	ENST00000395884.3																			1	Unknown(1)	p.?(1)	prostate(1)	cervix(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|prostate(3)	18						c.e3-2		Kruppel-like factor 10							36	40	38					8																	103664291		2175	4284	6459	SO:0001630	splice_region_variant	7071				cell proliferation|cell-cell signaling|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|skeletal system development|transforming growth factor beta receptor signaling pathway	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:103664291T>A	U21847	CCDS6294.1, CCDS47905.1	8q22.3	2014-09-17	2004-11-29	2004-12-01	ENSG00000155090	ENSG00000155090		"Kruppel-like transcription factors", "Zinc fingers, C2H2-type"	11810	protein-coding gene	gene with protein product		601878	"TGFB inducible early growth response"	TIEG		8584037, 9721211	Standard	NM_001032282		Approved	EGRA, TIEG1	uc011lhk.1	Q13118	OTTHUMG00000164735	ENST00000285407.6:c.271-2A>T	8.37:g.103664291T>A			OREG0018913	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1375	KLF10_ENST00000285407.6_Splice_Site		NM_001032282.2	NP_001027453.1	Q13118	KLF10_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.000112)|STAD - Stomach adenocarcinoma(118;0.0826)		3	1140	-	all_epithelial(15;5.63e-07)|Lung NSC(17;8.18e-05)|all_lung(17;0.000169)							A8MVH0|B2R794|L0R4P6|L0R679|O75411|Q503B2	Splice_Site	SNP	ENST00000285407.6	37		CCDS6294.1	.	.	.	.	.	.	.	.	.	.	T	16.25	3.068855	0.55539	.	.	ENSG00000155090	ENST00000285407;ENST00000395884	.	.	.	5.92	4.78	0.61160	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.8024	0.52135	0.0:0.0681:0.0:0.9319	.	.	.	.	.	-1	.	.	.	-	.	.	KLF10	103733467	1.000000	0.71417	0.964000	0.40570	0.915000	0.54546	7.422000	0.80217	1.085000	0.41206	0.533000	0.62120	.		0.333	KLF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379967.1		Intron	4	74	0	0	0	0.150653	0	4	74					A	103664291	T	A	103664291	5	1	15	1	0	0	0	0	0	0	1	0	8338	1536	53	5	1181	5	KLF10	8	103664291	Splice_Site	SNP	T	TCGA-CH-5740-01A-11D-1576-08		103664291	42699731	24	613											
ZHX1	11244	broad.mit.edu	37	chr8	124265827	124265827	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acttgtgcttcaggtaataaTccttaagtattgcagttcca	11	15	7	8	0	1	0	1	0	0	0	3	0	3	0	2	1	2	5	2	1	4	8			TCGA-CH-5740-01A-11D-1576-08	TCGA-CH-5740-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0e1221-01d3-44dc-a762-2084b3a42cc1	bbb53cc1-7aaf-42c9-b4c9-dbaf6864f414	g.chr8:124265827T>C	ENST00000522655.1	-	3	2900	c.2360A>G	c.(2359-2361)gAt>gGt	p.D787G	ZHX1_ENST00000297857.2_Missense_Mutation_p.D787G|ZHX1_ENST00000395571.3_Missense_Mutation_p.D787G|ZHX1-C8ORF76_ENST00000357082.4_Intron|ZHX1_ENST00000522595.1_5'Flank			Q9UKY1	ZHX1_HUMAN	zinc fingers and homeoboxes 1	787					cell differentiation (GO:0030154)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)	p.D787G(1)		breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29	Lung NSC(37;1.25e-09)|Ovarian(258;0.0154)		STAD - Stomach adenocarcinoma(47;0.00527)			CAGGTAATAATCCTTAAGTAT	0.423																																						ENST00000395571.3																			1	Substitution - Missense(1)	p.D787G(1)	prostate(1)	breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29						c.(2359-2361)gAt>gGt		zinc fingers and homeoboxes 1							179	179	179					8																	124265827		2203	4300	6503	SO:0001583	missense	11244				negative regulation of transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:124265827T>C	AF106862	CCDS6342.1	8q24.13	2012-03-09	2004-01-23		ENSG00000165156	ENSG00000165156		"Zinc fingers, C2H2-type", "Homeoboxes / ZF class"	12871	protein-coding gene	gene with protein product		604764	"zinc-fingers and homeoboxes 1"			10441475	Standard	NM_001017926		Approved		uc003yqe.3	Q9UKY1	OTTHUMG00000165088	ENST00000522655.1:c.2360A>G	8.37:g.124265827T>C	ENSP00000428821:p.Asp787Gly					ZHX1_ENST00000297857.2_Missense_Mutation_p.D787G|ZHX1_ENST00000522655.1_Missense_Mutation_p.D787G|ZHX1-C8ORF76_ENST00000357082.4_Intron	p.D787G	NM_001017926.2|NM_007222.4	NP_001017926.1|NP_009153.3	Q9UKY1	ZHX1_HUMAN	STAD - Stomach adenocarcinoma(47;0.00527)		3	2977	-	Lung NSC(37;1.25e-09)|Ovarian(258;0.0154)		787					Q8IWD8	Missense_Mutation	SNP	ENST00000522655.1	37	c.2360A>G	CCDS6342.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	20.8|20.8	4.050748|4.050748	0.75960|0.75960	.|.	.|.	ENSG00000165156|ENSG00000165156	ENST00000297857;ENST00000395571;ENST00000522655|ENST00000520474	T;T;T|.	0.24538|.	1.85;1.85;1.85|.	6.04|6.04	6.04|6.04	0.98038|0.98038	Homeodomain-related (1);Homeobox (1);Homeodomain-like (1);|.	0.098436|.	0.64402|.	D|.	0.000002|.	T|T	0.73418|0.73418	0.3584|0.3584	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	D|.	0.71674|.	0.998|.	D|.	0.69824|.	0.966|.	T|T	0.72207|0.72207	-0.4360|-0.4360	9|4	0.51188|.	T|.	0.08|.	-14.9912|-14.9912	16.5763|16.5763	0.84648|0.84648	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	787|.	Q9UKY1|.	ZHX1_HUMAN|.	G|V	787|472	ENSP00000297857:D787G;ENSP00000378938:D787G;ENSP00000428821:D787G|.	ENSP00000297857:D787G|.	D|I	-|-	2|1	0|0	ZHX1|ZHX1	124335008|124335008	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	5.691000|5.691000	0.68249|0.68249	2.317000|2.317000	0.78254|0.78254	0.459000|0.459000	0.35465|0.35465	GAT|ATT		0.423	ZHX1-003	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000381759.1			6	565	0	0	0	0.217242	0	6	565					C	124265827	T	C	124265827	3	2	15	1	0	0	0	0	1	0	0	0	17672	1435	50	4	265	4	ZHX1	8	124265827	Missense_Mutation	SNP	T	TCGA-CH-5740-01A-11D-1576-08	20601536	124265827	22098195	25	614											
VPS13A	23230	broad.mit.edu	37	chr9	79981645	79981645	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atctctttatctttttagttAcatttaagtgtttcactgag	9	21	5	6	0	3	1	1	1	2	0	4	1	3	1	0	0	1	2	0	0	4	9			TCGA-CH-5740-01A-11D-1576-08	TCGA-CH-5740-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0e1221-01d3-44dc-a762-2084b3a42cc1	bbb53cc1-7aaf-42c9-b4c9-dbaf6864f414	g.chr9:79981645A>T	ENST00000360280.3	+	61	8588	c.8328A>T	c.(8326-8328)ttA>ttT	p.L2776F	VPS13A_ENST00000376636.3_Missense_Mutation_p.L2737F|VPS13A_ENST00000376634.4_Missense_Mutation_p.L2776F|VPS13A_ENST00000357409.5_Missense_Mutation_p.L2776F	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13 homolog A (S. cerevisiae)	2776					cell death (GO:0008219)|Golgi to endosome transport (GO:0006895)|locomotory behavior (GO:0007626)|nervous system development (GO:0007399)|protein localization (GO:0008104)|protein transport (GO:0015031)|social behavior (GO:0035176)	dense core granule (GO:0031045)|intracellular (GO:0005622)		p.L2776F(2)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						CTTTTTAGTTACATTTAAGTG	0.269																																						ENST00000360280.3																			2	Substitution - Missense(2)	p.L2776F(2)	prostate(2)	breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						c.(8326-8328)ttA>ttT		vacuolar protein sorting 13 homolog A (S. cerevisiae)							31	32	31					9																	79981645		2194	4296	6490	SO:0001583	missense	23230				Golgi to endosome transport|protein transport	intracellular	protein binding	g.chr9:79981645A>T	AB023203	CCDS6655.1, CCDS6656.1, CCDS47983.1, CCDS55321.1	9q21	2014-01-30	2006-04-04	2004-02-11	ENSG00000197969	ENSG00000197969			1908	protein-coding gene	gene with protein product	"chorein"	605978	"chorea acanthocytosis", "vacuolar protein sorting 13A (yeast)"	CHAC		9382101, 11381253	Standard	NM_001018038		Approved	KIAA0986	uc004akr.3	Q96RL7	OTTHUMG00000020055	ENST00000360280.3:c.8328A>T	9.37:g.79981645A>T	ENSP00000353422:p.Leu2776Phe					VPS13A_ENST00000376634.4_Missense_Mutation_p.L2776F|VPS13A_ENST00000376636.3_Missense_Mutation_p.L2737F|VPS13A_ENST00000357409.5_Missense_Mutation_p.L2776F	p.L2776F	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN			61	8588	+			2776					Q5JSX9|Q5JSY0|Q5VYR5|Q702P4|Q709D0|Q86YF8|Q96S61|Q9H995|Q9Y2J1	Missense_Mutation	SNP	ENST00000360280.3	37	c.8328A>T	CCDS6655.1	.	.	.	.	.	.	.	.	.	.	A	16.39	3.108737	0.56291	.	.	ENSG00000197969	ENST00000376634;ENST00000376636;ENST00000360280;ENST00000357409	D;D;D;D	0.83914	-1.78;-1.78;-1.78;-1.78	5.5	2.32	0.28847	.	0.000000	0.64402	D	0.000004	D	0.89361	0.6693	M	0.81497	2.545	0.80722	D	1	D;D;D;D	0.89917	0.997;1.0;1.0;1.0	D;D;D;D	0.83275	0.968;0.996;0.988;0.992	D	0.87704	0.2562	9	.	.	.	.	9.3254	0.37990	0.389:0.0:0.611:0.0	.	2737;2776;2776;2776	Q96RL7-3;Q96RL7;Q96RL7-2;Q96RL7-4	.;VP13A_HUMAN;.;.	F	2776;2737;2776;2776	ENSP00000365821:L2776F;ENSP00000365823:L2737F;ENSP00000353422:L2776F;ENSP00000349985:L2776F	.	L	+	3	2	VPS13A	79171465	0.975000	0.34042	1.000000	0.80357	0.774000	0.43823	0.117000	0.15583	0.536000	0.28733	-0.479000	0.04858	TTA		0.269	VPS13A-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052753.2	NM_015186		4	79	0	0	0	0.150653	0	4	79					T	79981645	A	T	79981645	3	4	15	1	0	0	0	0	1	0	0	0	17186	388	14	5	8570	5	VPS13A	9	79981645	Missense_Mutation	SNP	A	TCGA-CH-5740-01A-11D-1576-08		79981645	61231786	26	615											
SH2D3C	10044	broad.mit.edu	37	chr9	130504081	130504081	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagtacctgggccatgtccaGggcacccatgaccgccgcga	8	5	12	16	3	0	1	0	1	0	0	1	2	1	1	6	2	1	2	6	2	1	1			TCGA-CH-5740-01A-11D-1576-08	TCGA-CH-5740-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0e1221-01d3-44dc-a762-2084b3a42cc1	bbb53cc1-7aaf-42c9-b4c9-dbaf6864f414	g.chr9:130504081G>C	ENST00000314830.8	-	9	2187	c.2074C>G	c.(2074-2076)Ctg>Gtg	p.L692V	SH2D3C_ENST00000373274.3_Missense_Mutation_p.L532V|SH2D3C_ENST00000420366.1_Missense_Mutation_p.L534V|SH2D3C_ENST00000373277.4_Missense_Mutation_p.L535V|SH2D3C_ENST00000471939.1_5'Flank|SH2D3C_ENST00000429553.1_Missense_Mutation_p.L338V|SH2D3C_ENST00000373276.3_Missense_Mutation_p.L624V	NM_170600.2	NP_733745.1	Q8N5H7	SH2D3_HUMAN	SH2 domain containing 3C	692	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				JNK cascade (GO:0007254)|positive regulation of signal transduction (GO:0009967)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|membrane (GO:0016020)	guanyl-nucleotide exchange factor activity (GO:0005085)|SH3/SH2 adaptor activity (GO:0005070)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						GCCATGTCCAGGGCACCCATG	0.637																																						ENST00000314830.8																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						c.(2074-2076)Ctg>Gtg		SH2 domain containing 3C							34	32	33					9																	130504081		2203	4300	6503	SO:0001583	missense	10044				JNK cascade|small GTPase mediated signal transduction	cytoplasm|membrane	guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity	g.chr9:130504081G>C	AF124251	CCDS6877.1, CCDS6878.1, CCDS48026.1, CCDS48028.1, CCDS59145.1	9q33.1-q33.3	2013-02-14	2002-01-14		ENSG00000095370	ENSG00000095370		"SH2 domain containing"	16884	protein-coding gene	gene with protein product		604722	"SH2 domain-containing 3C"			10187783	Standard	NM_170600		Approved	NSP3	uc004bsc.3	Q8N5H7	OTTHUMG00000020717	ENST00000314830.8:c.2074C>G	9.37:g.130504081G>C	ENSP00000317817:p.Leu692Val					SH2D3C_ENST00000373277.4_Missense_Mutation_p.L535V|SH2D3C_ENST00000429553.1_Missense_Mutation_p.L338V|SH2D3C_ENST00000373274.3_Missense_Mutation_p.L532V|SH2D3C_ENST00000373276.3_Missense_Mutation_p.L624V|SH2D3C_ENST00000420366.1_Missense_Mutation_p.L534V	p.L692V	NM_170600.2	NP_733745.1	Q8N5H7	SH2D3_HUMAN			9	2187	-			692			Ras-GEF.		A8K5S8|E9PG48|Q5HYE5|Q5JU31|Q6UY42|Q8N6X3|Q9Y2X5	Missense_Mutation	SNP	ENST00000314830.8	37	c.2074C>G	CCDS6877.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.956151	0.73902	.	.	ENSG00000095370	ENST00000373277;ENST00000420366;ENST00000373276;ENST00000373274;ENST00000429553;ENST00000314830	T;T;T;T;T;T	0.58940	0.3;0.3;0.3;0.3;0.3;0.3	5.79	3.63	0.41609	Guanine-nucleotide dissociation stimulator CDC25 (4);Ras guanine nucleotide exchange factor, domain (1);	0.137726	0.49916	D	0.000126	T	0.76350	0.3975	M	0.85630	2.765	0.58432	D	0.999997	D;D;D;D;D	0.76494	0.996;0.996;0.999;0.997;0.993	P;P;D;D;P	0.78314	0.835;0.848;0.991;0.971;0.679	T	0.80668	-0.1280	10	0.87932	D	0	-14.3926	12.3479	0.55132	0.1647:0.0:0.8353:0.0	.	532;692;624;535;534	E9PG48;Q8N5H7;E7EUN5;Q8N5H7-2;Q8N5H7-5	.;SH2D3_HUMAN;.;.;.	V	535;534;624;532;338;692	ENSP00000362374:L535V;ENSP00000388536:L534V;ENSP00000362373:L624V;ENSP00000362371:L532V;ENSP00000394632:L338V;ENSP00000317817:L692V	ENSP00000317817:L692V	L	-	1	2	SH2D3C	129543902	1.000000	0.71417	1.000000	0.80357	0.787000	0.44495	2.145000	0.42207	1.438000	0.47492	0.563000	0.77884	CTG		0.637	SH2D3C-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000054264.1	NM_005489		15	32	0	0	0	0.539581	0	15	32					C	130504081	G	C	130504081	3	2	15	1	0	0	0	0	1	0	0	0	14234	991	35	5	524	5	SH2D3C	9	130504081	Missense_Mutation	SNP	G	TCGA-CH-5740-01A-11D-1576-08	50522436	130504081	10709350	27	616											
PTEN	5728	broad.mit.edu	37	chr10	89720826	89720826	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttaacaaaaaatgatcttgAcaaagcaaataaagacaaag	23	8	5	5	0	1	3	0	2	1	1	1	3	1	3	0	0	2	1	0	0	9	4			TCGA-CH-5740-01A-11D-1576-08	TCGA-CH-5740-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0e1221-01d3-44dc-a762-2084b3a42cc1	bbb53cc1-7aaf-42c9-b4c9-dbaf6864f414	g.chr10:89720826A>G	ENST00000371953.3	+	8	2334	c.977A>G	c.(976-978)gAc>gGc	p.D326G	PTEN_ENST00000472832.1_3'UTR	NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	326	C2 tensin-type. {ECO:0000255|PROSITE- ProRule:PRU00589}.				activation of mitotic anaphase-promoting complex activity (GO:0007092)|aging (GO:0007568)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|brain morphogenesis (GO:0048854)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle tissue development (GO:0048738)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|central nervous system myelin maintenance (GO:0032286)|central nervous system neuron axonogenesis (GO:0021955)|dendritic spine morphogenesis (GO:0060997)|dentate gyrus development (GO:0021542)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|innate immune response (GO:0045087)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|learning or memory (GO:0007611)|locomotor rhythm (GO:0045475)|locomotory behavior (GO:0007626)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|male mating behavior (GO:0060179)|maternal behavior (GO:0042711)|memory (GO:0007613)|multicellular organismal response to stress (GO:0033555)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell aging (GO:0090344)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031658)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myelination (GO:0031642)|negative regulation of organ growth (GO:0046621)|negative regulation of phagocytosis (GO:0050765)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of ribosome biogenesis (GO:0090071)|negative regulation of synaptic vesicle clustering (GO:2000808)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell proliferation (GO:0008284)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|postsynaptic density assembly (GO:0097107)|prepulse inhibition (GO:0060134)|presynaptic membrane assembly (GO:0097105)|prostate gland growth (GO:0060736)|protein dephosphorylation (GO:0006470)|protein kinase B signaling (GO:0043491)|protein stabilization (GO:0050821)|regulation of B cell apoptotic process (GO:0002902)|regulation of cellular component size (GO:0032535)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of neuron projection development (GO:0010975)|regulation of protein stability (GO:0031647)|response to arsenic-containing substance (GO:0046685)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse maturation (GO:0060074)|T cell receptor signaling pathway (GO:0050852)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|myelin sheath adaxonal region (GO:0035749)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)	anaphase-promoting complex binding (GO:0010997)|enzyme binding (GO:0019899)|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity (GO:0051717)|lipid binding (GO:0008289)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity (GO:0051800)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.0?(37)|p.R55fs*1(5)|p.?(2)|p.D326G(2)|p.N212fs*1(2)|p.Y27fs*1(2)|p.T319_K332del(1)|p.G165_*404del(1)|p.W274_F341del(1)|p.D326_K342del(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		AATGATCTTGACAAAGCAAAT	0.333		31	"D, Mis, N, F, S"		"glioma,  prostate, endometrial"	"harmartoma, glioma,  prostate, endometrial"			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																												ENST00000371953.3		31	yes	Rec	yes	"Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"	10	10q23.3	5728	"D, Mis, N, F, S"	phosphatase and tensin homolog gene			"L, E, M, O"		"harmartoma, glioma,  prostate, endometrial"	"glioma,  prostate, endometrial"		54	Whole gene deletion(37)|Deletion - Frameshift(9)|Deletion - In frame(4)|Substitution - Missense(2)|Unknown(2)	p.0?(37)|p.R55fs*1(5)|p.?(2)|p.D326G(2)|p.N212fs*1(2)|p.Y27fs*1(2)|p.T319_K332del(1)|p.G165_*404del(1)|p.W274_F341del(1)|p.D326_K342del(1)	prostate(17)|central_nervous_system(13)|skin(6)|lung(4)|haematopoietic_and_lymphoid_tissue(3)|breast(3)|ovary(3)|endometrium(2)|urinary_tract(2)|soft_tissue(1)	NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771						c.(976-978)gAc>gGc		phosphatase and tensin homolog							77	79	79					10																	89720826		2203	4299	6502	SO:0001583	missense	5728	Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	Familial Cancer Database	Incl.: Encephalocraniocutaneous Lipomatosis, ECCL, Proteus-like s.;incl.: Juvenile Polyposis of the Stomach;HMPS1, Colorectal Adenoma Carcinoma syndrome, CRAC, CRAC1;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;subset of PTEN-Hamartoma Tumor Syndrome; incl.: Ruvalcaba-Myhre-Smith s.	activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr10:89720826A>G	U92436	CCDS31238.1	10q23	2014-09-17	2008-07-31		ENSG00000171862	ENSG00000171862		"Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"	9588	protein-coding gene	gene with protein product	"mutated in multiple advanced cancers 1"	601728		BZS, MHAM		9090379	Standard	NM_000314		Approved	MMAC1, TEP1, PTEN1	uc001kfb.3	P60484	OTTHUMG00000018688	ENST00000371953.3:c.977A>G	10.37:g.89720826A>G	ENSP00000361021:p.Asp326Gly	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)				PTEN_ENST00000472832.1_3'UTR	p.D326G	NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)	8	2334	+		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	326			C2 tensin-type.		B2R904|F2YHV0|O00633|O02679|Q6ICT7	Missense_Mutation	SNP	ENST00000371953.3	37	c.977A>G	CCDS31238.1	.	.	.	.	.	.	.	.	.	.	A	27.5	4.838352	0.91117	.	.	ENSG00000171862	ENST00000371953	D	0.97529	-4.42	5.37	5.37	0.77165	Tensin phosphatase, C2 domain (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	D	0.98513	0.9504	M	0.86953	2.85	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.99376	1.0921	9	.	.	.	-9.3215	15.3536	0.74409	1.0:0.0:0.0:0.0	.	326	P60484	PTEN_HUMAN	G	326	ENSP00000361021:D326G	.	D	+	2	0	PTEN	89710806	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	8.861000	0.92277	2.034000	0.60081	0.482000	0.46254	GAC		0.333	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1	NM_000314		7	161	0	0	0	0.307466	0	7	161					G	89720826	A	G	89720826	3	3	15	1	0	0	0	0	1	0	0	0	12738	275	10	4	1007	4	PTEN	10	89720826	Missense_Mutation	SNP	A	TCGA-CH-5740-01A-11D-1576-08		89720826	45813921	28	617											
SLC5A12	159963	broad.mit.edu	37	chr11	26734248	26734248	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggtttgttgaatcgtagttgTaagtactaaaggaaacagaa	15	12	11	3	1	0	2	0	1	0	1	1	3	0	3	0	2	2	6	0	2	8	7			TCGA-CH-5740-01A-11D-1576-08	TCGA-CH-5740-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0e1221-01d3-44dc-a762-2084b3a42cc1	bbb53cc1-7aaf-42c9-b4c9-dbaf6864f414	g.chr11:26734248T>A	ENST00000396005.3	-	2	654	c.345A>T	c.(343-345)ttA>ttT	p.L115F	SLC5A12_ENST00000280467.6_Missense_Mutation_p.L115F	NM_178498.3	NP_848593.2	Q1EHB4	SC5AC_HUMAN	solute carrier family 5 (sodium/monocarboxylate cotransporter), member 12	115					sodium ion transport (GO:0006814)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	symporter activity (GO:0015293)	p.L115F(2)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)	35						ATCGTAGTTGTAAGTACTAAA	0.428																																						ENST00000396005.3																			2	Substitution - Missense(2)	p.L115F(2)	prostate(2)	breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)	35						c.(343-345)ttA>ttT		solute carrier family 5 (sodium/monocarboxylate cotransporter), member 12							281	242	256					11																	26734248		2203	4299	6502	SO:0001583	missense	159963				sodium ion transport	apical plasma membrane|integral to membrane	symporter activity	g.chr11:26734248T>A	BC049207	CCDS7860.2	11p14.2	2013-07-19	2013-07-19		ENSG00000148942	ENSG00000148942		"Solute carriers"	28750	protein-coding gene	gene with protein product		612455	"solute carrier family 5 (sodium/glucose cotransporter), member 12"			12477932	Standard	NM_178498		Approved	MGC52019, SMCT2	uc001mra.2	Q1EHB4	OTTHUMG00000150706	ENST00000396005.3:c.345A>T	11.37:g.26734248T>A	ENSP00000379326:p.Leu115Phe					SLC5A12_ENST00000280467.6_Missense_Mutation_p.L115F	p.L115F	NM_178498.3	NP_848593.2	Q1EHB4	SC5AC_HUMAN			2	654	-			115					Q86UC7	Missense_Mutation	SNP	ENST00000396005.3	37	c.345A>T	CCDS7860.2	.	.	.	.	.	.	.	.	.	.	T	17.85	3.489183	0.64074	.	.	ENSG00000148942	ENST00000396005;ENST00000280467	D;D	0.89939	-2.59;-2.59	5.13	2.69	0.31865	.	0.000000	0.64402	D	0.000006	D	0.92071	0.7487	M	0.71871	2.18	0.47994	D	0.999566	P;D	0.69078	0.913;0.997	P;D	0.66196	0.795;0.942	D	0.90579	0.4528	10	0.87932	D	0	.	9.0156	0.36168	0.0:0.3849:0.0:0.6151	.	115;115	Q1EHB4-2;Q1EHB4	.;SC5AC_HUMAN	F	115	ENSP00000379326:L115F;ENSP00000280467:L115F	ENSP00000280467:L115F	L	-	3	2	SLC5A12	26690824	1.000000	0.71417	0.999000	0.59377	0.898000	0.52572	0.777000	0.26718	0.315000	0.23110	-0.408000	0.06270	TTA		0.428	SLC5A12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319681.1	NM_178498		8	453	0	0	0	0.27861	0	8	453					A	26734248	T	A	26734248	3	1	15	1	0	0	0	0	1	0	0	0	14664	1635	57	5	1567	5	SLC5A12	11	26734248	Missense_Mutation	SNP	T	TCGA-CH-5740-01A-11D-1576-08		26734248	108272268	29	618											
OR5L2	26338	broad.mit.edu	37	chr11	55595427	55595427	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tctccacctgtgcctcccacCtcacagccatcactgtctcc	6	10	4	21	0	4	0	2	0	2	0	7	0	5	0	7	0	2	0	7	0	0	0			TCGA-CH-5740-01A-11D-1576-08	TCGA-CH-5740-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0e1221-01d3-44dc-a762-2084b3a42cc1	bbb53cc1-7aaf-42c9-b4c9-dbaf6864f414	g.chr11:55595427C>A	ENST00000378397.1	+	1	733	c.733C>A	c.(733-735)Ctc>Atc	p.L245I		NM_001004739.1	NP_001004739.1	Q8NGL0	OR5L2_HUMAN	olfactory receptor, family 5, subfamily L, member 2	245						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L245I(1)		breast(2)|kidney(1)|large_intestine(1)|lung(42)|ovary(1)|prostate(3)|skin(1)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	59		all_epithelial(135;0.208)				TGCCTCCCACCTCACAGCCAT	0.498										HNSCC(27;0.073)																												ENST00000378397.1																			1	Substitution - Missense(1)	p.L245I(1)	prostate(1)	breast(2)|kidney(1)|large_intestine(1)|lung(42)|ovary(1)|prostate(3)|skin(1)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	59						c.(733-735)Ctc>Atc		olfactory receptor, family 5, subfamily L, member 2							153	134	141					11																	55595427		2200	4296	6496	SO:0001583	missense	26338				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55595427C>A	AB065782	CCDS31511.1	11q11	2012-08-09			ENSG00000205030	ENSG00000205030		"GPCR / Class A : Olfactory receptors"	8351	protein-coding gene	gene with protein product						1370859	Standard	NM_001004739		Approved	HTPCRX16, HSHTPCRX16	uc001nhy.1	Q8NGL0	OTTHUMG00000166812	ENST00000378397.1:c.733C>A	11.37:g.55595427C>A	ENSP00000367650:p.Leu245Ile	HNSCC(27;0.073)					p.L245I	NM_001004739.1	NP_001004739.1	Q8NGL0	OR5L2_HUMAN			1	733	+		all_epithelial(135;0.208)	245					Q6IF66|Q96RB2	Missense_Mutation	SNP	ENST00000378397.1	37	c.733C>A	CCDS31511.1	.	.	.	.	.	.	.	.	.	.	.	12.60	1.986980	0.35036	.	.	ENSG00000205030	ENST00000378397	T	0.43294	0.95	5.24	4.31	0.51392	GPCR, rhodopsin-like superfamily (1);	0.442698	0.19334	N	0.116829	T	0.53834	0.1821	M	0.65975	2.015	0.32795	N	0.500606	D	0.55385	0.971	P	0.61874	0.895	T	0.64019	-0.6505	10	0.56958	D	0.05	-35.9148	5.6407	0.17562	0.1702:0.6692:0.0:0.1606	.	245	Q8NGL0	OR5L2_HUMAN	I	245	ENSP00000367650:L245I	ENSP00000367650:L245I	L	+	1	0	OR5L2	55352003	0.001000	0.12720	1.000000	0.80357	0.053000	0.15095	-0.022000	0.12480	2.617000	0.88574	0.632000	0.83419	CTC		0.498	OR5L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391516.1	NM_001004739		5	179	1	0	0.000602214	0.184627	0.000666737	5	179					A	55595427	C	A	55595427	3	1	15	1	0	0	0	0	1	0	0	0	11171	681	24	5	735	5	OR5L2	11	55595427	Missense_Mutation	SNP	C	TCGA-CH-5740-01A-11D-1576-08	28861179	55595427	79411089	30	619											
AQP2	359	broad.mit.edu	37	chr12	50349301	50349301	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtgctgaagggcctggagccGgacaccgattgggaggagcg	8	5	19	9	3	0	1	0	1	0	0	0	6	0	5	3	5	3	1	3	5	1	1			TCGA-CH-5740-01A-11D-1576-08	TCGA-CH-5740-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0e1221-01d3-44dc-a762-2084b3a42cc1	bbb53cc1-7aaf-42c9-b4c9-dbaf6864f414	g.chr12:50349301G>A	ENST00000199280.3	+	4	811	c.726G>A	c.(724-726)ccG>ccA	p.P242P	RP11-469H8.6_ENST00000552379.1_RNA|RP11-469H8.8_ENST00000552806.1_RNA|RP11-469H8.6_ENST00000550530.1_RNA	NM_000486.5	NP_000477.1	P41181	AQP2_HUMAN	aquaporin 2 (collecting duct)	242					actin filament depolymerization (GO:0030042)|aging (GO:0007568)|apoptotic process (GO:0006915)|cell volume homeostasis (GO:0006884)|cellular response to copper ion (GO:0071280)|cellular response to mercury ion (GO:0071288)|cellular response to water deprivation (GO:0042631)|excretion (GO:0007588)|female pregnancy (GO:0007565)|glycerol transport (GO:0015793)|hyperosmotic response (GO:0006972)|metanephric collecting duct development (GO:0072205)|positive regulation of calcium ion transport (GO:0051928)|renal water transport (GO:0003097)|response to calcium ion (GO:0051592)|response to glucagon (GO:0033762)|response to lipopolysaccharide (GO:0032496)|response to lithium ion (GO:0010226)|response to salt stress (GO:0009651)|response to starvation (GO:0042594)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|clathrin-coated vesicle (GO:0030136)|early endosome (GO:0005769)|exocytic vesicle (GO:0070382)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|recycling endosome (GO:0055037)|rough endoplasmic reticulum (GO:0005791)|trans-Golgi network (GO:0005802)|transport vesicle membrane (GO:0030658)	glycerol transmembrane transporter activity (GO:0015168)|water channel activity (GO:0015250)|water transmembrane transporter activity (GO:0005372)			breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(4)|ovary(2)	10						GCCTGGAGCCGGACACCGATT	0.692																																						ENST00000199280.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(4)|ovary(2)	10						c.(724-726)ccG>ccA		aquaporin 2 (collecting duct)							18	20	20					12																	50349301		2202	4300	6502	SO:0001819	synonymous_variant	359				cellular response to copper ion|cellular response to mercury ion|excretion	apical plasma membrane|integral to membrane|transport vesicle membrane	glycerol transmembrane transporter activity|water channel activity	g.chr12:50349301G>A		CCDS8792.1	12q12-q13	2014-09-17				ENSG00000167580		"Ion channels / Aquaporins"	634	protein-coding gene	gene with protein product		107777				7512890	Standard	NM_000486		Approved		uc001rvn.3	P41181		ENST00000199280.3:c.726G>A	12.37:g.50349301G>A						RP11-469H8.6_ENST00000550530.1_RNA|RP11-469H8.8_ENST00000552806.1_RNA|RP11-469H8.6_ENST00000552379.1_RNA	p.P242P	NM_000486.5	NP_000477.1	P41181	AQP2_HUMAN			4	811	+			242					Q9UD68	Silent	SNP	ENST00000199280.3	37	c.726G>A	CCDS8792.1																																																																																				0.692	AQP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405540.1	NM_000486		3	33	0	0	0	0.150653	0	3	33					A	50349301	G	A	50349301	2	1	15	1	0	0	0	0	0	0	0	1	826	1103	39	2		2	AQP2	12	50349301	Silent	SNP	G	TCGA-CH-5740-01A-11D-1576-08		50349301	83502594	31	620											
UBC	7316	broad.mit.edu	37	chr12	125398090	125398090	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gtcttcacgaagatttgcatCccacctctgagacggagcac	10	9	9	13	2	3	2	1	1	2	2	4	5	4	3	2	1	2	2	2	1	1	2			TCGA-CH-5740-01A-11D-1576-08	TCGA-CH-5740-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0e1221-01d3-44dc-a762-2084b3a42cc1	bbb53cc1-7aaf-42c9-b4c9-dbaf6864f414	g.chr12:125398090C>T	ENST00000538617.1	-	3	544	c.228G>A	c.(226-228)ggG>ggA	p.G76G	UBC_ENST00000536661.1_5'Flank|UBC_ENST00000339647.5_Silent_p.G76G|MIR5188_ENST00000583467.1_RNA|UBC_ENST00000546120.1_Silent_p.G76G|UBC_ENST00000536769.1_Silent_p.G76G			P0CG48	UBC_HUMAN	ubiquitin C	456	Ubiquitin-like 1. {ECO:0000255|PROSITE- ProRule:PRU00214}.				activation of MAPK activity (GO:0000187)|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|carbohydrate metabolic process (GO:0005975)|cellular response to hypoxia (GO:0071456)|cytokine-mediated signaling pathway (GO:0019221)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|endosomal transport (GO:0016197)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|intracellular transport of virus (GO:0075733)|ion transmembrane transport (GO:0034220)|JNK cascade (GO:0007254)|membrane organization (GO:0061024)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of type I interferon production (GO:0032480)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of apoptotic process (GO:0043065)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of type I interferon production (GO:0032479)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|stress-activated MAPK cascade (GO:0051403)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|transmembrane transport (GO:0055085)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral protein processing (GO:0019082)|virion assembly (GO:0019068)	cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|protease binding (GO:0002020)	p.G76G(1)		breast(3)|endometrium(4)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308)		AGATTTGCATCCCACCTCTGA	0.532																																						ENST00000536769.1																			1	Substitution - coding silent(1)	p.G76G(1)	prostate(1)	breast(3)|endometrium(4)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(226-228)ggG>ggA		ubiquitin C							210	191	198					12																	125398090		2203	4300	6503	SO:0001819	synonymous_variant	7316				activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|viral reproduction	cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane	protein binding	g.chr12:125398090C>T		CCDS9260.1	12q24.3	2008-09-08			ENSG00000150991	ENSG00000150991			12468	protein-coding gene	gene with protein product	"polyubiquitin-C"	191340				1315303, 11872750	Standard	NM_021009		Approved		uc001ugs.4	P0CG48		ENST00000538617.1:c.228G>A	12.37:g.125398090C>T						UBC_ENST00000339647.5_Silent_p.G76G|UBC_ENST00000546120.1_Silent_p.G76G|UBC_ENST00000538617.1_Silent_p.G76G	p.G76G			P0CG48	UBC_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308)	1	1804	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		76			Ubiquitin-like 1.		P02248|P02249|P02250|P62988|Q29120|Q6LBL4|Q6LDU5|Q8WYN8|Q91887|Q91888|Q9BWD6|Q9BX98|Q9UEF2|Q9UEG1|Q9UEK8|Q9UPK7	Silent	SNP	ENST00000538617.1	37	c.228G>A																																																																																					0.532	UBC-003	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000400179.1	NM_021009		8	346	0	0	0	0.307466	0	8	346					T	125398090	C	T	125398090	2	4	15	1	0	0	0	0	0	0	0	1	16839	842	30	3		3	UBC	12	125398090	Silent	SNP	C	TCGA-CH-5740-01A-11D-1576-08	75048789	125398090	8453805	32	621											
RNF17	56163	broad.mit.edu	37	chr13	25376711	25376711	+	Splice_Site	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tttttatggaactagcaaagTaagtaacttattaaaactta	17	15	5	4	0	0	0	0	0	0	0	0	1	0	1	0	1	4	3	0	1	10	9			TCGA-CH-5740-01A-11D-1576-08	TCGA-CH-5740-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0e1221-01d3-44dc-a762-2084b3a42cc1	bbb53cc1-7aaf-42c9-b4c9-dbaf6864f414	g.chr13:25376711T>A	ENST00000255324.5	+	14	2001		c.e14+2		RNF17_ENST00000381921.1_Splice_Site|RNF17_ENST00000255325.6_Splice_Site	NM_001184993.1|NM_031277.2	NP_001171922.1|NP_112567.2	Q9BXT8	RNF17_HUMAN	ring finger protein 17						multicellular organismal development (GO:0007275)|spermatid development (GO:0007286)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	hydrolase activity, acting on ester bonds (GO:0016788)|nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)	p.?(4)		NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6)	36		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)		ACTAGCAAAGTAAGTAACTTA	0.323																																						ENST00000255324.5																			4	Unknown(4)	p.?(4)	prostate(4)	NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6)	36						c.e14+2		ring finger protein 17							75	79	77					13																	25376711		2203	4300	6503	SO:0001630	splice_region_variant	56163				multicellular organismal development	cytoplasm|nucleus	hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding	g.chr13:25376711T>A	AF285602, AK001907	CCDS9308.2	13q12.13	2013-01-23			ENSG00000132972	ENSG00000132972		"RING-type (C3HC4) zinc fingers", "Tudor domain containing"	10060	protein-coding gene	gene with protein product	"spermatogenesis associated 23"	605793	"tudor domain containing 4"	TDRD4		11279525	Standard	NM_001184993		Approved	Mmip-2, SPATA23, FLJ11045	uc001upr.3	Q9BXT8	OTTHUMG00000016589	ENST00000255324.5:c.1949+2T>A	13.37:g.25376711T>A						RNF17_ENST00000381921.1_Splice_Site|RNF17_ENST00000255325.5_Splice_Site		NM_001184993.1|NM_031277.2	NP_001171922.1|NP_112567.2	Q9BXT8	RNF17_HUMAN		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)	14	2001	+		Lung SC(185;0.0225)|Breast(139;0.077)						Q5T2J9|Q6P1W3|Q9BXT7|Q9NUY9	Splice_Site	SNP	ENST00000255324.5	37		CCDS9308.2	.	.	.	.	.	.	.	.	.	.	T	19.59	3.857059	0.71834	.	.	ENSG00000132972	ENST00000255324;ENST00000381921;ENST00000429047;ENST00000255325	.	.	.	4.75	4.75	0.60458	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.3697	0.60707	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	RNF17	24274711	1.000000	0.71417	0.999000	0.59377	0.962000	0.63368	3.699000	0.54778	1.997000	0.58415	0.482000	0.46254	.		0.323	RNF17-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044217.1	NM_031994	Intron	5	183	0	0	0	0.184627	0	5	183					A	25376711	T	A	25376711	5	1	15	1	0	0	0	0	0	0	1	0	13461	1652	57	5	2005	5	RNF17	13	25376711	Splice_Site	SNP	T	TCGA-CH-5740-01A-11D-1576-08		25376711	89793167	33	622											
PCSK6	5046	broad.mit.edu	37	chr15	101938639	101938639	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccatactcgaaagcctgcttAgccagtcggccgggcccgtc	7	7	11	16	4	0	0	0	0	0	0	3	1	0	0	5	2	4	1	5	2	3	2			TCGA-CH-5740-01A-11D-1576-08	TCGA-CH-5740-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0e1221-01d3-44dc-a762-2084b3a42cc1	bbb53cc1-7aaf-42c9-b4c9-dbaf6864f414	g.chr15:101938639A>C	ENST00000348070.1	-	8	962	c.963T>G	c.(961-963)gcT>gcG	p.A321A	PCSK6_ENST00000561177.1_5'UTR|PCSK6_ENST00000358417.3_Silent_p.A321A|PCSK6_ENST00000398181.2_Silent_p.A321A|PCSK6_ENST00000331826.7_Silent_p.A156A|PCSK6_ENST00000344273.2_Silent_p.A321A	NM_002570.3|NM_138320.1	NP_002561.1|NP_612193.1	P29122	PCSK6_HUMAN	proprotein convertase subtilisin/kexin type 6	322	Peptidase S8.				determination of left/right symmetry (GO:0007368)|glycoprotein metabolic process (GO:0009100)|nerve growth factor processing (GO:0032455)|nerve growth factor production (GO:0032902)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptide hormone processing (GO:0016486)|protein processing (GO:0016485)|regulation of BMP signaling pathway (GO:0030510)|secretion by cell (GO:0032940)|zygotic determination of anterior/posterior axis, embryo (GO:0007354)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|membrane (GO:0016020)	endopeptidase activity (GO:0004175)|heparin binding (GO:0008201)|nerve growth factor binding (GO:0048406)|serine-type endopeptidase activity (GO:0004252)	p.A321A(3)		breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Lung NSC(78;0.00102)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000803)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			AAGCCTGCTTAGCCAGTCGGC	0.552																																						ENST00000348070.1																			3	Substitution - coding silent(3)	p.A321A(3)	prostate(3)	breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(961-963)gcT>gcG		proprotein convertase subtilisin/kexin type 6							109	118	115					15																	101938639		1975	4193	6168	SO:0001819	synonymous_variant	5046				glycoprotein metabolic process|nerve growth factor processing|nerve growth factor production|nerve growth factor receptor signaling pathway|regulation of BMP signaling pathway|secretion by cell	cell surface|endomembrane system|endoplasmic reticulum|extracellular matrix|extracellular space|Golgi lumen|membrane|soluble fraction	eukaryotic cell surface binding|heparin binding|nerve growth factor binding|serine-type endopeptidase activity	g.chr15:101938639A>C		CCDS73789.1, CCDS73790.1, CCDS73791.1, CCDS73792.1, CCDS73793.1	15q26	2008-07-18	2004-06-14	2004-06-16		ENSG00000140479			8569	protein-coding gene	gene with protein product	"subtilisin-like protease", "subtilisin-like proprotein convertase 4", "subtilisin/kexin-like protease PACE4"	167405	"paired basic amino acid cleaving system 4"	PACE4		1741956	Standard	NM_002570		Approved	SPC4	uc002bwy.3	P29122		ENST00000348070.1:c.963T>G	15.37:g.101938639A>C						PCSK6_ENST00000358417.3_Silent_p.A321A|PCSK6_ENST00000561177.1_5'UTR|PCSK6_ENST00000331826.7_Silent_p.A156A|PCSK6_ENST00000344273.2_Silent_p.A321A|PCSK6_ENST00000398181.2_Silent_p.A321A	p.A321A	NM_002570.3|NM_138320.1	NP_002561.1|NP_612193.1	P29122	PCSK6_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.000803)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)		8	962	-	Lung NSC(78;0.00102)|all_lung(78;0.00128)|Melanoma(26;0.00505)		322			Catalytic.		Q15099|Q15100|Q9UEG7|Q9UEJ1|Q9UEJ2|Q9UEJ7|Q9UEJ8|Q9UEJ9|Q9Y4G9|Q9Y4H0|Q9Y4H1	Silent	SNP	ENST00000348070.1	37	c.963T>G																																																																																					0.552	PCSK6-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_002570		7	171	0	0	0	0.335167	0	7	171					C	101938639	A	C	101938639	2	2	15	1	0	0	0	0	0	0	0	1	11604	407	15	5		5	PCSK6	15	101938639	Silent	SNP	A	TCGA-CH-5740-01A-11D-1576-08		101938639	592753	34	623											
CDH8	1006	broad.mit.edu	37	chr16	61935093	61935093	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcatacatacccaaaatggaCatttctggcacagtagcatg	14	9	8	10	0	1	0	0	0	1	0	1	1	1	1	1	2	3	4	1	2	5	4			TCGA-CH-5740-01A-11D-1576-08	TCGA-CH-5740-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0e1221-01d3-44dc-a762-2084b3a42cc1	bbb53cc1-7aaf-42c9-b4c9-dbaf6864f414	g.chr16:61935093C>A	ENST00000577390.1	-	3	1491	c.537G>T	c.(535-537)atG>atT	p.M179I	CDH8_ENST00000577730.1_Missense_Mutation_p.M179I|CDH8_ENST00000584337.1_Missense_Mutation_p.M179I|CDH8_ENST00000299345.6_Missense_Mutation_p.M179I	NM_001796.4	NP_001787.2	P55286	CADH8_HUMAN	cadherin 8, type 2	179	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|response to cold (GO:0009409)|synaptic transmission, glutamatergic (GO:0035249)	axon terminus (GO:0043679)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synaptic cleft (GO:0043083)	calcium ion binding (GO:0005509)	p.M179I(1)		biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		CCAAAATGGACATTTCTGGCA	0.383																																						ENST00000577390.1																			1	Substitution - Missense(1)	p.M179I(1)	prostate(1)	biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112						c.(535-537)atG>atT		cadherin 8, type 2							97	96	96					16																	61935093		2203	4300	6503	SO:0001583	missense	1006				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr16:61935093C>A	L34060	CCDS10802.1	16q22.1	2010-01-26			ENSG00000150394	ENSG00000150394		"Cadherins / Major cadherins"	1767	protein-coding gene	gene with protein product		603008				9615235, 2059658	Standard	NM_001796		Approved		uc002eog.2	P55286	OTTHUMG00000137493	ENST00000577390.1:c.537G>T	16.37:g.61935093C>A	ENSP00000462701:p.Met179Ile					CDH8_ENST00000299345.6_Missense_Mutation_p.M179I|CDH8_ENST00000577730.1_Missense_Mutation_p.M179I|CDH8_ENST00000584337.1_Missense_Mutation_p.M179I	p.M179I	NM_001796.4	NP_001787.2	P55286	CADH8_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)	3	1491	-		Ovarian(137;0.0799)|Melanoma(118;0.16)	179			Cadherin 2.		B3KWC1|Q14DC6|Q9ULB2	Missense_Mutation	SNP	ENST00000577390.1	37	c.537G>T	CCDS10802.1	.	.	.	.	.	.	.	.	.	.	C	18.58	3.654381	0.67472	.	.	ENSG00000150394	ENST00000299345	T	0.59083	0.29	6.08	6.08	0.98989	Cadherin (4);Cadherin-like (1);	0.070956	0.85682	D	0.000000	T	0.59555	0.2202	L	0.53617	1.68	0.80722	D	1	B	0.10296	0.003	B	0.19666	0.026	T	0.54503	-0.8284	10	0.72032	D	0.01	.	20.6721	0.99693	0.0:1.0:0.0:0.0	.	179	P55286	CADH8_HUMAN	I	179	ENSP00000299345:M179I	ENSP00000299345:M179I	M	-	3	0	CDH8	60492594	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.763000	0.68818	2.894000	0.99253	0.591000	0.81541	ATG		0.383	CDH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268754.3	NM_001796		5	193	1	0	0.184627	0.184627	0.19736	5	193					A	61935093	C	A	61935093	3	1	15	1	0	0	0	0	1	0	0	0	3116	478	17	5	1902	5	CDH8	16	61935093	Missense_Mutation	SNP	C	TCGA-CH-5740-01A-11D-1576-08		61935093	28419660	35	624											
POLDIP2	26073	broad.mit.edu	37	chr17	26680002	26680002	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tggatgggaacctgatcagtGgaggtgtaggggaggatgtc	9	9	19	4	0	1	1	1	1	0	0	2	6	1	6	1	7	1	1	1	7	2	1			TCGA-CH-5740-01A-11D-1576-08	TCGA-CH-5740-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0e1221-01d3-44dc-a762-2084b3a42cc1	bbb53cc1-7aaf-42c9-b4c9-dbaf6864f414	g.chr17:26680002G>A	ENST00000540200.1	-	7	554	c.555C>T	c.(553-555)tcC>tcT	p.S185S	POLDIP2_ENST00000003607.4_5'UTR	NM_015584.3	NP_056399.1	Q9Y2S7	PDIP2_HUMAN	polymerase (DNA-directed), delta interacting protein 2	186					mitochondrion morphogenesis (GO:0070584)	mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	DNA binding (GO:0003677)					all_lung(13;0.000354)|Lung NSC(42;0.00115)			UCEC - Uterine corpus endometrioid carcinoma (53;0.154)		CCTGATCAGTGGAGGTGTAGG	0.488																																						ENST00000540200.1																			0											c.(553-555)tcC>tcT		polymerase (DNA-directed), delta interacting protein 2							83	83	83					17																	26680002		1938	4138	6076	SO:0001819	synonymous_variant	26073					mitochondrial nucleoid|nucleus		g.chr17:26680002G>A	AF077203	CCDS74018.1	17q11.2	2008-02-05			ENSG00000004142	ENSG00000004142			23781	protein-coding gene	gene with protein product		611519				12522211	Standard	NM_015584		Approved	PDIP38, DKFZP586F1524	uc002haz.3	Q9Y2S7	OTTHUMG00000132065	ENST00000540200.1:c.555C>T	17.37:g.26680002G>A						POLDIP2_ENST00000003607.4_5'UTR	p.S185S	NM_015584.3	NP_056399.1	Q9Y2S7	PDIP2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (53;0.154)	7	554	-	all_lung(13;0.000354)|Lung NSC(42;0.00115)		186					B2R846|Q96JE4	Silent	SNP	ENST00000540200.1	37	c.555C>T																																																																																					0.488	POLDIP2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_015584		17	41	0	0	0	0.592651	0	17	41					A	26680002	G	A	26680002	2	1	15	1	0	0	0	0	0	0	0	1	12194	1335	47	3		3	POLDIP2	17	26680002	Silent	SNP	G	TCGA-CH-5740-01A-11D-1576-08		26680002	54515208	36	625											
GLTSCR1	29998	broad.mit.edu	37	chr19	48202015	48202015	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	atgtctaccagggcgccctcCcctcccccagtgactaccac	7	7	7	20	1	1	1	0	1	1	0	3	1	3	1	7	1	2	0	7	1	2	2			TCGA-CH-5740-01A-11D-1576-08	TCGA-CH-5740-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0e1221-01d3-44dc-a762-2084b3a42cc1	bbb53cc1-7aaf-42c9-b4c9-dbaf6864f414	g.chr19:48202015C>T	ENST00000396720.3	+	12	3567	c.3373C>T	c.(3373-3375)Ccc>Tcc	p.P1125S	CTD-2571L23.8_ENST00000599924.1_lincRNA	NM_015711.3	NP_056526.3	Q9NZM4	GSCR1_HUMAN	glioma tumor suppressor candidate region gene 1	1125								p.P1125S(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|pancreas(3)|prostate(4)|skin(2)	20		all_cancers(25;1.8e-07)|all_lung(116;5.73e-06)|Lung NSC(112;9.69e-06)|all_epithelial(76;2.42e-05)|all_neural(266;0.0332)|Ovarian(192;0.086)		all cancers(93;0.000358)|OV - Ovarian serous cystadenocarcinoma(262;0.000576)|Epithelial(262;0.0212)|GBM - Glioblastoma multiforme(486;0.0355)		GGGCGCCCTCCCCTCCCCCAG	0.682											OREG0025594	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000396720.3																			1	Substitution - Missense(1)	p.P1125S(1)	prostate(1)	breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|pancreas(3)|prostate(4)|skin(2)	20						c.(3373-3375)Ccc>Tcc		glioma tumor suppressor candidate region gene 1							27	28	28					19																	48202015		1966	4145	6111	SO:0001583	missense	29998						protein binding	g.chr19:48202015C>T	AF182077	CCDS46134.1	19q13.3	2012-11-29			ENSG00000063169	ENSG00000063169			4332	protein-coding gene	gene with protein product		605690				10708517	Standard	NM_015711		Approved		uc002phh.4	Q9NZM4		ENST00000396720.3:c.3373C>T	19.37:g.48202015C>T	ENSP00000379946:p.Pro1125Ser		OREG0025594	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	952	CTD-2571L23.8_ENST00000599924.1_lincRNA	p.P1125S	NM_015711.3	NP_056526.3	Q9NZM4	GSCR1_HUMAN		all cancers(93;0.000358)|OV - Ovarian serous cystadenocarcinoma(262;0.000576)|Epithelial(262;0.0212)|GBM - Glioblastoma multiforme(486;0.0355)	12	3567	+		all_cancers(25;1.8e-07)|all_lung(116;5.73e-06)|Lung NSC(112;9.69e-06)|all_epithelial(76;2.42e-05)|all_neural(266;0.0332)|Ovarian(192;0.086)	1125					A8MW01	Missense_Mutation	SNP	ENST00000396720.3	37	c.3373C>T	CCDS46134.1	.	.	.	.	.	.	.	.	.	.	c	13.40	2.225017	0.39300	.	.	ENSG00000063169	ENST00000396720	T	0.36340	1.26	4.27	4.27	0.50696	.	.	.	.	.	T	0.34135	0.0887	L	0.28400	0.85	0.35098	D	0.764972	P	0.41345	0.746	P	0.44921	0.464	T	0.47195	-0.9136	9	0.39692	T	0.17	.	15.6207	0.76805	0.0:1.0:0.0:0.0	.	1125	Q9NZM4	GSCR1_HUMAN	S	1125	ENSP00000379946:P1125S	ENSP00000379946:P1125S	P	+	1	0	GLTSCR1	52893827	0.998000	0.40836	0.992000	0.48379	0.981000	0.71138	3.564000	0.53791	2.222000	0.72286	0.556000	0.70494	CCC		0.682	GLTSCR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465846.1	NM_015711		3	9	0	0	0	0.184627	0	3	9					T	48202015	C	T	48202015	3	4	15	1	0	0	0	0	1	0	0	0	6474	623	22	3	3411	3	GLTSCR1	19	48202015	Missense_Mutation	SNP	C	TCGA-CH-5740-01A-11D-1576-08		48202015	10926968	37	626											
VRK3	51231	broad.mit.edu	37	chr19	50511057	50511058	+	Frame_Shift_Ins	INS	-	-	G																															gtcttctgagggctgcttttINSgggggttgggggtctgctcc																										TCGA-CH-5740-01A-11D-1576-08	TCGA-CH-5740-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0e1221-01d3-44dc-a762-2084b3a42cc1	bbb53cc1-7aaf-42c9-b4c9-dbaf6864f414	g.chr19:50511057_50511058insG	ENST00000599538.1	-	5	979_980	c.315_316insC	c.(313-318)cccaaafs	p.K106fs	VRK3_ENST00000443401.2_5'UTR|VRK3_ENST00000593919.1_Frame_Shift_Ins_p.K106fs|VRK3_ENST00000601912.1_Frame_Shift_Ins_p.K56fs|VRK3_ENST00000377011.2_Frame_Shift_Ins_p.K56fs|VRK3_ENST00000594948.1_Frame_Shift_Ins_p.K106fs|VRK3_ENST00000424804.2_5'UTR|VRK3_ENST00000601341.1_Frame_Shift_Ins_p.K56fs|VRK3_ENST00000316763.3_Frame_Shift_Ins_p.K106fs|VRK3_ENST00000594092.1_Frame_Shift_Ins_p.K106fs			Q8IV63	VRK3_HUMAN	vaccinia related kinase 3	106					negative regulation of ERK1 and ERK2 cascade (GO:0070373)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|skin(2)|stomach(2)|urinary_tract(1)	23		all_neural(266;0.0459)|Ovarian(192;0.0481)		GBM - Glioblastoma multiforme(134;0.00166)|OV - Ovarian serous cystadenocarcinoma(262;0.00652)		GGGCTGCTTTTGGGGGTTGGGG	0.564																																					Pancreas(6;90 181 4352 12603 17050 34726 35237 44094)	ENST00000599538.1																			0				breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|skin(2)|stomach(2)|urinary_tract(1)	23						c.(313-318)ccaaagfs		vaccinia related kinase 3																																				SO:0001589	frameshift_variant	51231					nucleus	ATP binding|protein kinase activity	g.chr19:50511057_50511058insG	AB031052	CCDS12791.1, CCDS33076.1	19q13.33	2011-01-14			ENSG00000105053	ENSG00000105053			18996	protein-coding gene	gene with protein product							Standard	XM_005258971		Approved		uc002prh.1	Q8IV63		ENST00000599538.1:c.316dupC	19.37:g.50511062_50511062dupG	ENSP00000469880:p.Lys106fs					VRK3_ENST00000601912.1_Frame_Shift_Ins_p.PK55fs|VRK3_ENST00000601341.1_Frame_Shift_Ins_p.PK55fs|VRK3_ENST00000593919.1_Frame_Shift_Ins_p.PK105fs|VRK3_ENST00000377011.2_Frame_Shift_Ins_p.PK55fs|VRK3_ENST00000316763.3_Frame_Shift_Ins_p.PK105fs|VRK3_ENST00000594948.1_Frame_Shift_Ins_p.PK105fs|VRK3_ENST00000594092.1_Frame_Shift_Ins_p.PK105fs|VRK3_ENST00000424804.2_5'UTR|VRK3_ENST00000443401.2_5'UTR	p.PK105fs			Q8IV63	VRK3_HUMAN		GBM - Glioblastoma multiforme(134;0.00166)|OV - Ovarian serous cystadenocarcinoma(262;0.00652)	5	979_980	-		all_neural(266;0.0459)|Ovarian(192;0.0481)	105		P -> T (in dbSNP:rs11547882).			A6NEG5|A8KA53|Q502Y2|Q9P2V8	Frame_Shift_Ins	INS	ENST00000599538.1	37	c.315_316insC	CCDS12791.1																																																																																				0.564	VRK3-009	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000464815.1	NM_016440		7	251						7	251	---	---	---	---	G	50511058	-	G	50511057	7	5	15	1	0	1	1	0	0	0	0	0	17218	1821	63	0	1148	0	VRK3	19	50511057	Frame_Shift_Ins	INS	-	TCGA-CH-5740-01A-11D-1576-08	2309042	50511057	8617926	38	627											
XKR7	343702	broad.mit.edu	37	chr20	30584459	30584459	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgttcagcattgccgcccgCggcctggccttcgcgctctt	2	11	11	17	5	2	0	1	0	1	0	3	0	2	0	4	2	2	3	4	2	0	4			TCGA-CH-5740-01A-11D-1576-08	TCGA-CH-5740-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0e1221-01d3-44dc-a762-2084b3a42cc1	bbb53cc1-7aaf-42c9-b4c9-dbaf6864f414	g.chr20:30584459C>T	ENST00000562532.2	+	3	1113	c.939C>T	c.(937-939)cgC>cgT	p.R313R		NM_001011718.1	NP_001011718.1	Q5GH72	XKR7_HUMAN	XK, Kell blood group complex subunit-related family, member 7	313						integral component of membrane (GO:0016021)		p.R313R(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(19)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	34			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			TTGCCGCCCGCGGCCTGGCCT	0.637																																						ENST00000217299.3																			1	Substitution - coding silent(1)	p.R313R(1)	prostate(1)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(19)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	34						c.(937-939)cgC>cgT		XK, Kell blood group complex subunit-related family, member 7							62	61	62					20																	30584459		2203	4300	6503	SO:0001819	synonymous_variant	343702					integral to membrane		g.chr20:30584459C>T	AY534245	CCDS33459.1	20q11.21	2014-07-16	2006-01-12		ENSG00000260903	ENSG00000260903			23062	protein-coding gene	gene with protein product			"X Kell blood group precursor-related family, member 7", "chromosome 20 open reading frame 159"	C20orf159			Standard	NM_001011718		Approved	dJ310O13.4	uc002wxe.3	Q5GH72	OTTHUMG00000032198	ENST00000562532.2:c.939C>T	20.37:g.30584459C>T							p.R313R	NM_001011718.1	NP_001011718.1	Q5GH72	XKR7_HUMAN	Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)		3	1113	+			313					Q9NUG5	Silent	SNP	ENST00000562532.2	37	c.939C>T	CCDS33459.1																																																																																				0.637	XKR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078597.3	NM_001011718		26	57	0	0	0	0.667858	0	26	57					T	30584459	C	T	30584459	2	4	15	1	0	0	0	0	0	0	0	1	17433	755	27	1		1	XKR7	20	30584459	Silent	SNP	C	TCGA-CH-5740-01A-11D-1576-08		30584459	32441061	39	628											
KIF3B	9371	broad.mit.edu	37	chr20	30904102	30904102	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agaaaatcctggagcagaaaCgacaggaaattgcagagcag	18	4	12	7	1	0	3	0	0	0	3	1	6	1	5	1	2	4	3	1	2	4	1	rs149015672		TCGA-CH-5740-01A-11D-1576-08	TCGA-CH-5740-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0e1221-01d3-44dc-a762-2084b3a42cc1	bbb53cc1-7aaf-42c9-b4c9-dbaf6864f414	g.chr20:30904102C>T	ENST00000375712.3	+	3	1653	c.1486C>T	c.(1486-1488)Cga>Tga	p.R496*	KIF3B_ENST00000418717.2_Nonsense_Mutation_p.R122*	NM_004798.3	NP_004789.1	O15066	KIF3B_HUMAN	kinesin family member 3B	496					anterograde axon cargo transport (GO:0008089)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cytoskeleton-dependent intracellular transport (GO:0030705)|determination of left/right symmetry (GO:0007368)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic centrosome separation (GO:0007100)|mitotic spindle organization (GO:0007052)|plus-end-directed vesicle transport along microtubule (GO:0072383)|spindle assembly involved in mitosis (GO:0090307)	centrosome (GO:0005813)|cilium (GO:0005929)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intraciliary transport particle (GO:0030990)|kinesin II complex (GO:0016939)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|midbody (GO:0030496)|plus-end kinesin complex (GO:0005873)|spindle (GO:0005819)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)|Rho GTPase binding (GO:0017048)	p.R496*(1)		NS(2)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(5)|lung(9)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	36			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			GGAGCAGAAACGACAGGAAAT	0.408																																						ENST00000375712.3																			1	Substitution - Nonsense(1)	p.R496*(1)	prostate(1)	NS(2)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(5)|lung(9)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	36						c.(1486-1488)Cga>Tga		kinesin family member 3B		C	stop/ARG	0,4406		0,0,2203	94	96	95		1486	3.6	1	20	dbSNP_134	95	1,8599	1.2+/-3.3	0,1,4299	no	stop-gained	KIF3B	NM_004798.3		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		496/748	30904102	1,13005	2203	4300	6503	SO:0001587	stop_gained	9371				anterograde axon cargo transport|blood coagulation|determination of left/right symmetry|mitotic centrosome separation|plus-end-directed vesicle transport along microtubule|spindle assembly involved in mitosis	centrosome|cytosol|kinesin II complex|plus-end kinesin complex|spindle microtubule	ATP binding|plus-end-directed microtubule motor activity|Rho GTPase binding	g.chr20:30904102C>T	AB002357	CCDS13200.1	20q11.21	2012-08-01			ENSG00000101350	ENSG00000101350		"Kinesins"	6320	protein-coding gene	gene with protein product		603754				9205841	Standard	NM_004798		Approved	KIAA0359, FLA8, KLP-11	uc002wxq.3	O15066	OTTHUMG00000032214	ENST00000375712.3:c.1486C>T	20.37:g.30904102C>T	ENSP00000364864:p.Arg496*					KIF3B_ENST00000418717.2_Nonsense_Mutation_p.R122*	p.R496*	NM_004798.3	NP_004789.1	O15066	KIF3B_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)		3	1653	+			496					B2RMP4|B4DSR5|E1P5M5	Nonsense_Mutation	SNP	ENST00000375712.3	37	c.1486C>T	CCDS13200.1	.	.	.	.	.	.	.	.	.	.	C	38	6.945629	0.97956	0.0	1.16E-4	ENSG00000101350	ENST00000375712;ENST00000418717	.	.	.	4.63	3.64	0.41730	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.4357	0.38637	0.2737:0.5916:0.1346:0.0	.	.	.	.	X	496;122	.	ENSP00000364864:R496X	R	+	1	2	KIF3B	30367763	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.058000	0.49939	2.381000	0.81170	0.561000	0.74099	CGA		0.408	KIF3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078619.1	NM_004798		63	128	0	0	0	0.870114	0	63	128					T	30904102	C	T	30904102	4	4	15	1	0	0	0	0	0	1	0	0	8301	528	19	1	1492	1	KIF3B	20	30904102	Nonsense_Mutation	SNP	C	TCGA-CH-5740-01A-11D-1576-08	319643	30904102	32121418	40	629											
TMPRSS2	7113	broad.mit.edu	37	chr21	42852443	42852443	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggccgcccgcccgtagttctCgttccagtcgtcttggcaca	4	10	11	16	5	2	0	0	0	2	0	5	0	3	0	4	2	0	4	4	2	1	4	rs139092674		TCGA-CH-5740-01A-11D-1576-08	TCGA-CH-5740-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0e1221-01d3-44dc-a762-2084b3a42cc1	bbb53cc1-7aaf-42c9-b4c9-dbaf6864f414	g.chr21:42852443C>T	ENST00000332149.5	-	6	666	c.532G>A	c.(532-534)Gag>Aag	p.E178K	TMPRSS2_ENST00000458356.1_Missense_Mutation_p.E178K|TMPRSS2_ENST00000398585.3_Missense_Mutation_p.E215K	NM_005656.3	NP_005647.3	O15393	TMPS2_HUMAN	transmembrane protease, serine 2	178	SRCR. {ECO:0000255|PROSITE- ProRule:PRU00196}.				positive regulation of viral entry into host cell (GO:0046598)|protein autoprocessing (GO:0016540)|proteolysis (GO:0006508)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)	p.E178K(3)	TMPRSS2/ETV1(34)|TMPRSS2/ETV5_ENST00000306376(5)|TMPRSS2/ERG(3582)|TMPRSS2/ETV4(13)	central_nervous_system(1)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	4		Prostate(19;4.48e-07)|all_epithelial(19;0.031)				CCGTAGTTCTCGTTCCAGTCG	0.572			T	"ERG, ETV1, ETV4, ETV5"	prostate																																	ENST00000398585.3				Dom	yes		21	21q22.3	7113	T	"transmembrane protease, serine 2"			E	"ERG, ETV1, ETV4, ETV5"		prostate	TMPRSS2/ETV1(34)|TMPRSS2/ETV5_ENST00000306376(5)|TMPRSS2/ERG(3582)|TMPRSS2/ETV4(13)	3	Substitution - Missense(3)	p.E178K(3)	prostate(3)	central_nervous_system(1)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	4						c.(643-645)Gag>Aag		transmembrane protease, serine 2		C	LYS/GLU,LYS/GLU	0,4406		0,0,2203	61	55	57		643,532	4.2	0	21	dbSNP_134	57	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	TMPRSS2	NM_001135099.1,NM_005656.3	56,56	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging	215/530,178/493	42852443	1,13005	2203	4300	6503	SO:0001583	missense	0				proteolysis	cytoplasm|extracellular region|integral to plasma membrane	scavenger receptor activity|serine-type endopeptidase activity	g.chr21:42852443C>T	U75329	CCDS33564.1, CCDS54486.1	21q22.3	2010-04-13			ENSG00000184012	ENSG00000184012		"Serine peptidases / Transmembrane"	11876	protein-coding gene	gene with protein product		602060				9325052	Standard	NM_005656		Approved	PRSS10	uc010gor.3	O15393	OTTHUMG00000086762	ENST00000332149.5:c.532G>A	21.37:g.42852443C>T	ENSP00000330330:p.Glu178Lys					TMPRSS2_ENST00000458356.1_Missense_Mutation_p.E178K|TMPRSS2_ENST00000332149.5_Missense_Mutation_p.E178K	p.E215K	NM_001135099.1	NP_001128571.1	O15393	TMPS2_HUMAN			6	703	-		Prostate(19;4.48e-07)|all_epithelial(19;0.031)	178			SRCR.		A8K6Z8|B2R8E5|B7Z459|D3DSJ2|F8WES1|Q6GTK7|Q9BXX1	Missense_Mutation	SNP	ENST00000332149.5	37	c.643G>A	CCDS33564.1	.	.	.	.	.	.	.	.	.	.	C	11.51	1.659116	0.29515	0.0	1.16E-4	ENSG00000184012	ENST00000332149;ENST00000398585;ENST00000458356;ENST00000454499;ENST00000424093	T;T;T;T;T	0.49720	0.77;0.77;0.77;0.77;0.77	5.12	4.22	0.49857	Speract/scavenger receptor (2);Speract/scavenger receptor-related (2);	0.259165	0.31542	N	0.007477	T	0.41259	0.1151	L	0.42245	1.32	0.09310	N	1	D;P	0.54397	0.966;0.94	B;B	0.44163	0.405;0.443	T	0.26087	-1.0113	10	0.36615	T	0.2	.	11.4947	0.50402	0.0:0.8182:0.1818:0.0	.	215;178	F8WES1;O15393	.;TMPS2_HUMAN	K	178;215;178;178;138	ENSP00000330330:E178K;ENSP00000381588:E215K;ENSP00000391216:E178K;ENSP00000389006:E178K;ENSP00000397846:E138K	ENSP00000330330:E178K	E	-	1	0	TMPRSS2	41774313	0.643000	0.27269	0.025000	0.17156	0.054000	0.15201	1.362000	0.34148	1.128000	0.42052	0.561000	0.74099	GAG		0.572	TMPRSS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195189.1			40	68	0	0	0	0.827153	0	40	68					T	42852443	C	T	42852443	3	4	15	1	0	0	0	0	1	0	0	0	16244	893	31	2	982	2	TMPRSS2	21	42852443	Missense_Mutation	SNP	C	TCGA-CH-5740-01A-11D-1576-08		42852443	5277452	41	630											
GRHL3	57822	broad.mit.edu	37	chr1	24676595	24676595	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gagaacatttacaaagtctaCaagaaatgcaagcgagggtg	17	7	11	6	1	1	2	0	0	1	2	1	4	1	2	0	1	5	1	0	1	7	3			TCGA-CH-5741-01A-11D-1576-08	TCGA-CH-5741-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1be2ab-1f84-46dc-b166-4d703d0e8ffa	3b14c841-4ca0-49a9-b938-de2ebbea8bdf	g.chr1:24676595C>G	ENST00000350501.5	+	15	1804	c.1677C>G	c.(1675-1677)taC>taG	p.Y559*	GRHL3_ENST00000361548.4_Nonsense_Mutation_p.Y559*|GRHL3_ENST00000342072.4_Nonsense_Mutation_p.Y466*|GRHL3_ENST00000236255.4_Nonsense_Mutation_p.Y564*|GRHL3_ENST00000356046.2_Nonsense_Mutation_p.Y513*	NM_198174.2	NP_937817.3	Q8TE85	GRHL3_HUMAN	grainyhead-like 3 (Drosophila)	559					central nervous system development (GO:0007417)|cochlea morphogenesis (GO:0090103)|ectoderm development (GO:0007398)|epidermis development (GO:0008544)|establishment of planar polarity (GO:0001736)|eyelid development in camera-type eye (GO:0061029)|pattern specification process (GO:0007389)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of actin cytoskeleton organization (GO:0032956)|wound healing (GO:0042060)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)	p.Y564*(1)		breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.00171)|all_lung(284;0.00226)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;8.72e-25)|Colorectal(126;4.38e-08)|COAD - Colon adenocarcinoma(152;1.84e-06)|GBM - Glioblastoma multiforme(114;0.000132)|BRCA - Breast invasive adenocarcinoma(304;0.00105)|STAD - Stomach adenocarcinoma(196;0.00151)|KIRC - Kidney renal clear cell carcinoma(1967;0.00377)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.143)		ACAAAGTCTACAAGAAATGCA	0.498																																						ENST00000361548.4																			1	Substitution - Nonsense(1)	p.Y564*(1)	prostate(1)	breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						c.(1675-1677)taC>taG		grainyhead-like 3 (Drosophila)							79	72	75					1																	24676595		2203	4300	6503	SO:0001587	stop_gained	57822				regulation of actin cytoskeleton organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr1:24676595C>G	AY231161	CCDS251.1, CCDS252.1, CCDS44088.1, CCDS252.2, CCDS53284.1	1p36	2008-02-05	2005-07-11	2005-07-11	ENSG00000158055	ENSG00000158055			25839	protein-coding gene	gene with protein product		608317	"transcription factor CP2-like 4"	TFCP2L4		12549979	Standard	NM_021180		Approved	SOM	uc021oiw.1	Q8TE85	OTTHUMG00000003040	ENST00000350501.5:c.1677C>G	1.37:g.24676595C>G	ENSP00000288955:p.Tyr559*					GRHL3_ENST00000356046.2_Nonsense_Mutation_p.Y513*|GRHL3_ENST00000350501.5_Nonsense_Mutation_p.Y559*|GRHL3_ENST00000342072.4_Nonsense_Mutation_p.Y466*|GRHL3_ENST00000236255.4_Nonsense_Mutation_p.Y564*	p.Y559*	NM_198173.2	NP_937816.1	Q8TE85	GRHL3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;8.72e-25)|Colorectal(126;4.38e-08)|COAD - Colon adenocarcinoma(152;1.84e-06)|GBM - Glioblastoma multiforme(114;0.000132)|BRCA - Breast invasive adenocarcinoma(304;0.00105)|STAD - Stomach adenocarcinoma(196;0.00151)|KIRC - Kidney renal clear cell carcinoma(1967;0.00377)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.143)	15	1907	+		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.00171)|all_lung(284;0.00226)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)	559					A2A297|B2RCL1|G3XAF0|Q5TH78|Q86Y06|Q8N407	Nonsense_Mutation	SNP	ENST00000350501.5	37	c.1677C>G	CCDS252.2	.	.	.	.	.	.	.	.	.	.	C	40	8.225976	0.98714	.	.	ENSG00000158055	ENST00000361548;ENST00000342072;ENST00000350501;ENST00000356046;ENST00000236255	.	.	.	5.08	2.83	0.33086	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-25.8457	11.4213	0.49982	0.0:0.8231:0.0:0.1769	.	.	.	.	X	559;466;559;513;564	.	ENSP00000236255:Y564X	Y	+	3	2	GRHL3	24549182	1.000000	0.71417	1.000000	0.80357	0.862000	0.49288	1.203000	0.32284	1.141000	0.42275	0.484000	0.47621	TAC		0.498	GRHL3-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000009047.2	NM_021180		3	51	0	0	0	1	0	3	51					G	24676595	C	G	24676595	4	3	16	1	0	0	0	0	0	1	0	0	6765	489	17	5	1771	5	GRHL3	1	24676595	Nonsense_Mutation	SNP	C	TCGA-CH-5741-01A-11D-1576-08		24676595	224574026	1	631											
RUNX3	864	broad.mit.edu	37	chr1	25229113	25229113	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tggcagcgtggggaaggagcGgtcaaactggcgggggtcgg	7	5	22	7	4	1	0	1	0	0	0	2	2	1	2	0	9	3	1	0	9	2	0			TCGA-CH-5741-01A-11D-1576-08	TCGA-CH-5741-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1be2ab-1f84-46dc-b166-4d703d0e8ffa	3b14c841-4ca0-49a9-b938-de2ebbea8bdf	g.chr1:25229113G>A	ENST00000308873.6	-	5	756	c.748C>T	c.(748-750)Cgc>Tgc	p.R250C	RUNX3_ENST00000540420.1_Missense_Mutation_p.R157C|RUNX3_ENST00000496967.1_5'UTR|RUNX3_ENST00000338888.3_Missense_Mutation_p.R264C|RUNX3_ENST00000399916.1_Missense_Mutation_p.R264C	NM_004350.2	NP_004341.1	Q13761	RUNX3_HUMAN	runt-related transcription factor 3	250	Pro/Ser/Thr-rich.				axon guidance (GO:0007411)|cell maturation (GO:0048469)|chondrocyte differentiation (GO:0002062)|hair follicle morphogenesis (GO:0031069)|interferon-gamma production (GO:0032609)|negative regulation of cell cycle (GO:0045786)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|peripheral nervous system neuron development (GO:0048935)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	ATP binding (GO:0005524)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R264C(1)|p.R250C(1)		endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(3)	18		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00131)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0419)|OV - Ovarian serous cystadenocarcinoma(117;2.85e-26)|Colorectal(126;4.35e-08)|COAD - Colon adenocarcinoma(152;1.92e-06)|GBM - Glioblastoma multiforme(114;0.000102)|STAD - Stomach adenocarcinoma(196;0.000766)|KIRC - Kidney renal clear cell carcinoma(1967;0.00148)|BRCA - Breast invasive adenocarcinoma(304;0.00173)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.136)		GGGAAGGAGCGGTCAAACTGG	0.637																																						ENST00000399916.1																			2	Substitution - Missense(2)	p.R264C(1)|p.R250C(1)	prostate(2)	endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(3)	18						c.(790-792)Cgc>Tgc		runt-related transcription factor 3							77	74	75					1																	25229113		2188	4285	6473	SO:0001583	missense	864				cell proliferation|induction of apoptosis|negative regulation of cell cycle|negative regulation of epithelial cell proliferation|protein phosphorylation|transcription from RNA polymerase II promoter	cytoplasm|nucleus	ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr1:25229113G>A	BC013362	CCDS257.1, CCDS30633.1	1p36	2008-02-05			ENSG00000020633	ENSG00000020633			10473	protein-coding gene	gene with protein product		600210		CBFA3		7835892	Standard	NM_001031680		Approved	AML2, PEBP2A3	uc001bjq.3	Q13761	OTTHUMG00000003316	ENST00000308873.6:c.748C>T	1.37:g.25229113G>A	ENSP00000308051:p.Arg250Cys					RUNX3_ENST00000308873.6_Missense_Mutation_p.R250C|RUNX3_ENST00000338888.3_Missense_Mutation_p.R264C|RUNX3_ENST00000540420.1_Missense_Mutation_p.R157C|RUNX3_ENST00000496967.1_5'UTR	p.R264C	NM_001031680.2	NP_001026850.1	Q13761	RUNX3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0419)|OV - Ovarian serous cystadenocarcinoma(117;2.85e-26)|Colorectal(126;4.35e-08)|COAD - Colon adenocarcinoma(152;1.92e-06)|GBM - Glioblastoma multiforme(114;0.000102)|STAD - Stomach adenocarcinoma(196;0.000766)|KIRC - Kidney renal clear cell carcinoma(1967;0.00148)|BRCA - Breast invasive adenocarcinoma(304;0.00173)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.136)	6	1228	-		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00131)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)	250			Pro/Ser/Thr-rich.		B1AJV5|Q12969|Q13760	Missense_Mutation	SNP	ENST00000308873.6	37	c.790C>T	CCDS257.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.165569	0.78339	.	.	ENSG00000020633	ENST00000399916;ENST00000308873;ENST00000338888;ENST00000540420;ENST00000428150	D;D;D;D	0.97161	-4.27;-4.27;-4.27;-3.91	4.27	4.27	0.50696	.	0.231094	0.42682	D	0.000672	D	0.98150	0.9389	M	0.75777	2.31	0.48087	D	0.999582	D;D;D	0.89917	1.0;0.999;1.0	D;P;D	0.76575	0.954;0.791;0.988	D	0.98521	1.0623	10	0.52906	T	0.07	-21.9039	17.3123	0.87213	0.0:0.0:1.0:0.0	.	197;264;250	E9PH34;B1AJV5;Q13761	.;.;RUNX3_HUMAN	C	264;250;264;157;197	ENSP00000382800:R264C;ENSP00000308051:R250C;ENSP00000343477:R264C;ENSP00000444872:R157C	ENSP00000308051:R250C	R	-	1	0	RUNX3	25101700	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	8.761000	0.91691	2.395000	0.81488	0.456000	0.33151	CGC		0.637	RUNX3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000009284.1	NM_004350		5	202	0	0	0	1	0	5	202					A	25229113	G	A	25229113	3	1	16	1	0	0	0	0	1	0	0	0	13749	1116	39	2	503	2	RUNX3	1	25229113	Missense_Mutation	SNP	G	TCGA-CH-5741-01A-11D-1576-08	552518	25229113	224021508	2	632											
MACF1	23499	broad.mit.edu	37	chr1	39798824	39798824	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatattcatgatgaaactggAggatctcacataaaacccca	16	10	6	9	0	2	2	2	2	1	0	3	4	2	4	2	2	2	0	2	2	5	4	rs371929191		TCGA-CH-5741-01A-11D-1576-08	TCGA-CH-5741-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1be2ab-1f84-46dc-b166-4d703d0e8ffa	3b14c841-4ca0-49a9-b938-de2ebbea8bdf	g.chr1:39798824A>G	ENST00000372915.3	+	36	6666	c.6579A>G	c.(6577-6579)ggA>ggG	p.G2193G	MACF1_ENST00000317713.7_Intron|MACF1_ENST00000476350.1_Intron|MACF1_ENST00000289893.4_Silent_p.G628G|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000567887.1_Silent_p.G2225G|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000564288.1_Silent_p.G2188G|MACF1_ENST00000545844.1_Intron			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	2193					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			ATGAAACTGGAGGATCTCACA	0.358																																						ENST00000564288.1																			0				breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203						c.(6562-6564)ggA>ggG		microtubule-actin crosslinking factor 1		A	,	0,4406		0,0,2203	46	50	49		,1884	3.6	0	1		49	1,8599	1.2+/-3.3	0,1,4299	no	intron,coding-synonymous	MACF1	NM_012090.4,NM_033044.3	,	0,1,6502	GG,GA,AA		0.0116,0.0,0.0077	,	,628/5939	39798824	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	23499				cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding	g.chr1:39798824A>G	AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"EF-hand domain containing"	13664	protein-coding gene	gene with protein product	"actin cross-linking factor", "620 kDa actin binding protein", "macrophin 1", "trabeculin-alpha", "actin cross-linking family protein 7"	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.6579A>G	1.37:g.39798824A>G						MACF1_ENST00000539005.1_Intron|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000372915.3_Silent_p.G2193G|MACF1_ENST00000567887.1_Silent_p.G2225G|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000476350.1_Intron|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000289893.4_Silent_p.G628G	p.G2188G			Q9UPN3	MACF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)		37	7341	+	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	2193					B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Silent	SNP	ENST00000372915.3	37	c.6564A>G																																																																																					0.358	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1	NM_033044		3	154	0	0	0	1	0	3	154					G	39798824	A	G	39798824	2	3	16	1	0	0	0	0	0	0	0	1	9144	291	11	4		4	MACF1	1	39798824	Silent	SNP	A	TCGA-CH-5741-01A-11D-1576-08	14569711	39798824	209451797	3	633											
CC2D1B	200014	broad.mit.edu	37	chr1	52827241	52827241	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctcctcctcctccacatcccGcatacagtctgccgccaact	7	9	4	21	2	1	0	0	0	1	0	6	0	6	0	7	0	3	1	7	0	2	1	rs149044360		TCGA-CH-5741-01A-11D-1576-08	TCGA-CH-5741-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1be2ab-1f84-46dc-b166-4d703d0e8ffa	3b14c841-4ca0-49a9-b938-de2ebbea8bdf	g.chr1:52827241G>A	ENST00000371586.2	-	4	400	c.262C>T	c.(262-264)Cgg>Tgg	p.R88W	CC2D1B_ENST00000438831.1_5'UTR|CC2D1B_ENST00000284376.3_Missense_Mutation_p.R88W|CC2D1B_ENST00000460261.1_5'Flank	NM_032449.2	NP_115825.1	Q5T0F9	C2D1B_HUMAN	coiled-coil and C2 domain containing 1B	88						nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)	p.R88W(1)		breast(1)|large_intestine(6)|lung(13)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	27						tccACATCCCGCATACAGTCT	0.587																																						ENST00000371586.2																			1	Substitution - Missense(1)	p.R88W(1)	prostate(1)	breast(1)|large_intestine(6)|lung(13)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	27						c.(262-264)Cgg>Tgg		coiled-coil and C2 domain containing 1B		G	TRP/ARG	2,4404	4.2+/-10.8	0,2,2201	84	69	74		262	3.7	0.9	1	dbSNP_134	74	1,8599	1.2+/-3.3	0,1,4299	yes	missense	CC2D1B	NM_032449.2	101	0,3,6500	AA,AG,GG		0.0116,0.0454,0.0231	probably-damaging	88/859	52827241	3,13003	2203	4300	6503	SO:0001583	missense	200014							g.chr1:52827241G>A	AB058739	CCDS30714.1	1p32.3	2008-02-05			ENSG00000154222	ENSG00000154222			29386	protein-coding gene	gene with protein product						11347906	Standard	NM_032449		Approved	KIAA1836	uc001ctq.2	Q5T0F9	OTTHUMG00000008102	ENST00000371586.2:c.262C>T	1.37:g.52827241G>A	ENSP00000360642:p.Arg88Trp					CC2D1B_ENST00000284376.3_Missense_Mutation_p.R88W|CC2D1B_ENST00000438831.1_5'UTR	p.R88W	NM_032449.2	NP_115825.1	Q5T0F9	C2D1B_HUMAN			4	400	-			88					Q49AE8|Q5T0F8|Q5T0G0|Q6ZNQ1|Q96AP3|Q96I04|Q96JJ1	Missense_Mutation	SNP	ENST00000371586.2	37	c.262C>T	CCDS30714.1	.	.	.	.	.	.	.	.	.	.	G	14.65	2.600228	0.46423	4.54E-4	1.16E-4	ENSG00000154222	ENST00000371586;ENST00000284376;ENST00000371575;ENST00000371573	D;D	0.82081	-1.57;-1.57	4.62	3.7	0.42460	.	0.623886	0.15151	N	0.277725	T	0.78997	0.4372	M	0.67397	2.05	0.80722	D	1	P	0.48834	0.916	B	0.36666	0.23	T	0.80271	-0.1452	10	0.87932	D	0	-0.0088	11.5502	0.50716	0.0:0.0:0.6773:0.3227	.	88	Q5T0F9	C2D1B_HUMAN	W	88;88;88;2	ENSP00000360642:R88W;ENSP00000284376:R88W	ENSP00000284376:R88W	R	-	1	2	CC2D1B	52599829	0.997000	0.39634	0.922000	0.36590	0.964000	0.63967	2.666000	0.46799	1.157000	0.42530	-0.181000	0.13052	CGG		0.587	CC2D1B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000022189.1	NM_032449		4	93	0	0	0	1	0	4	93					A	52827241	G	A	52827241	3	1	16	1	0	0	0	0	1	0	0	0	2727	1086	38	1	2398	1	CC2D1B	1	52827241	Missense_Mutation	SNP	G	TCGA-CH-5741-01A-11D-1576-08	13028417	52827241	196423380	4	634											
SGIP1	84251	broad.mit.edu	37	chr1	67206953	67206953	+	Splice_Site	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtaataatgtgtttttttttAggggtgggttctttgttggc	5	21	13	2	0	1	0	0	0	1	0	1	0	1	0	0	4	0	4	0	4	3	10			TCGA-CH-5741-01A-11D-1576-08	TCGA-CH-5741-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1be2ab-1f84-46dc-b166-4d703d0e8ffa	3b14c841-4ca0-49a9-b938-de2ebbea8bdf	g.chr1:67206953A>T	ENST00000371037.4	+	24	2376		c.e24-1		SGIP1_ENST00000371035.3_Splice_Site|SGIP1_ENST00000371036.3_Splice_Site|SGIP1_ENST00000435165.2_Splice_Site|SGIP1_ENST00000237247.6_Splice_Site|SGIP1_ENST00000371039.1_Splice_Site	NM_032291.2	NP_115667.2	Q9BQI5	SGIP1_HUMAN	SH3-domain GRB2-like (endophilin) interacting protein 1						endocytosis (GO:0006897)|membrane tubulation (GO:0097320)|positive regulation of energy homeostasis (GO:2000507)|positive regulation of feeding behavior (GO:2000253)|positive regulation of receptor-mediated endocytosis (GO:0048260)|response to dietary excess (GO:0002021)	AP-2 adaptor complex (GO:0030122)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	microtubule binding (GO:0008017)|phospholipid binding (GO:0005543)|SH3 domain binding (GO:0017124)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(43)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	71						GTTTTTTTTTAGGGGTGGGTT	0.373																																						ENST00000371037.4																			0				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(43)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	71						c.e24-1		SH3-domain GRB2-like (endophilin) interacting protein 1							77	72	74					1																	67206953		2203	4300	6503	SO:0001630	splice_region_variant	84251				positive regulation of energy homeostasis|positive regulation of feeding behavior|positive regulation of receptor-mediated endocytosis|response to dietary excess	AP-2 adaptor complex	microtubule binding|phospholipid binding|SH3 domain binding	g.chr1:67206953A>T	AL136561	CCDS30744.1	1p31.3	2008-02-05			ENSG00000118473	ENSG00000118473			25412	protein-coding gene	gene with protein product		611540				11230166	Standard	NM_032291		Approved	DKFZp761D221	uc001dcr.3	Q9BQI5	OTTHUMG00000009161	ENST00000371037.4:c.2300-1A>T	1.37:g.67206953A>T						SGIP1_ENST00000371035.3_Splice_Site|SGIP1_ENST00000371036.3_Splice_Site|SGIP1_ENST00000371039.1_Splice_Site|SGIP1_ENST00000237247.6_Splice_Site|SGIP1_ENST00000435165.2_Splice_Site		NM_032291.2	NP_115667.2	Q9BQI5	SGIP1_HUMAN			24	2376	+								A6NL81|A6NLD1|Q4LE32|Q5VYE2|Q5VYE3|Q5VYE4|Q68D76|Q6MZY6|Q8IWC2	Splice_Site	SNP	ENST00000371037.4	37		CCDS30744.1	.	.	.	.	.	.	.	.	.	.	A	22.1	4.248369	0.80024	.	.	ENSG00000118473	ENST00000237247;ENST00000371039;ENST00000371035;ENST00000371038;ENST00000407289;ENST00000371036;ENST00000371037;ENST00000435165	.	.	.	5.72	5.72	0.89469	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.0037	0.80327	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SGIP1	66979541	1.000000	0.71417	0.995000	0.50966	0.886000	0.51366	8.822000	0.92013	2.184000	0.69523	0.533000	0.62120	.		0.373	SGIP1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000025395.4	NM_032291	Intron	4	221	0	0	0	1	0	4	221					T	67206953	A	T	67206953	5	4	16	1	0	0	0	0	0	0	1	0	14206	434	15	5	2392	5	SGIP1	1	67206953	Splice_Site	SNP	A	TCGA-CH-5741-01A-11D-1576-08	14379712	67206953	182043668	5	635											
NTRK1	4914	broad.mit.edu	37	chr1	156849827	156849827	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tgctgcccattcgctggatgCcgcccgagagcatcctgtac	6	9	11	15	3	0	1	0	0	0	1	2	3	1	2	4	1	5	4	4	1	1	2			TCGA-CH-5741-01A-11D-1576-08	TCGA-CH-5741-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1be2ab-1f84-46dc-b166-4d703d0e8ffa	3b14c841-4ca0-49a9-b938-de2ebbea8bdf	g.chr1:156849827C>T	ENST00000524377.1	+	16	2124	c.2083C>T	c.(2083-2085)Ccg>Tcg	p.P695S	NTRK1_ENST00000358660.3_Missense_Mutation_p.P692S|NTRK1_ENST00000531606.1_3'UTR|NTRK1_ENST00000392302.2_Missense_Mutation_p.P659S|NTRK1_ENST00000368196.3_Missense_Mutation_p.P689S	NM_002529.3	NP_002520.2	P04629	NTRK1_HUMAN	neurotrophic tyrosine kinase, receptor, type 1	695	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		P -> L (in CIPA). {ECO:0000269|PubMed:10861667}.		activation of adenylate cyclase activity (GO:0007190)|activation of MAPKK activity (GO:0000186)|activation of phospholipase C activity (GO:0007202)|aging (GO:0007568)|axon guidance (GO:0007411)|axonogenesis involved in innervation (GO:0060385)|B cell differentiation (GO:0030183)|cellular response to nerve growth factor stimulus (GO:1990090)|cellular response to nicotine (GO:0071316)|circadian rhythm (GO:0007623)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|developmental programmed cell death (GO:0010623)|learning or memory (GO:0007611)|mechanoreceptor differentiation (GO:0042490)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|olfactory nerve development (GO:0021553)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of angiogenesis (GO:0045766)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron projection development (GO:0010976)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of programmed cell death (GO:0043068)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Ras protein signal transduction (GO:0046579)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|Ras protein signal transduction (GO:0007265)|response to activity (GO:0014823)|response to axon injury (GO:0048678)|response to drug (GO:0042493)|response to electrical stimulus (GO:0051602)|response to ethanol (GO:0045471)|response to hydrostatic pressure (GO:0051599)|response to nutrient levels (GO:0031667)|response to radiation (GO:0009314)|Sertoli cell development (GO:0060009)|small GTPase mediated signal transduction (GO:0007264)|sympathetic nervous system development (GO:0048485)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	axon (GO:0030424)|cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|early endosome (GO:0005769)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|nerve growth factor binding (GO:0048406)|nerve growth factor receptor activity (GO:0010465)|neurotrophin binding (GO:0043121)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.P695S(3)|p.P659S(2)		breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(35)|ovary(8)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	74	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)				Amitriptyline(DB00321)|Imatinib(DB00619)|Regorafenib(DB08896)	TCGCTGGATGCCGCCCGAGAG	0.647			T	"TPM3, TPR, TFG"	papillary thyroid					TSP Lung(10;0.080)																												ENST00000368196.3				Dom	yes		1	1q21-q22	4914	T	"neurotrophic tyrosine kinase, receptor, type 1"			E	"TPM3, TPR, TFG"		papillary thyroid		5	Substitution - Missense(5)	p.P695S(3)|p.P659S(2)	prostate(3)|kidney(2)	breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(35)|ovary(8)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	74						c.(2065-2067)Ccg>Tcg		neurotrophic tyrosine kinase, receptor, type 1	Imatinib(DB00619)						62	60	61					1																	156849827		2203	4300	6503	SO:0001583	missense	4914				activation of adenylate cyclase activity|activation of MAPKK activity|activation of phospholipase C activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development|phosphatidylinositol-mediated signaling|Ras protein signal transduction	endosome|integral to plasma membrane	ATP binding|neurotrophin receptor activity|transmembrane receptor protein serine/threonine kinase activity|transmembrane receptor protein tyrosine kinase activity	g.chr1:156849827C>T	Y09028	CCDS1161.1, CCDS30890.1, CCDS30891.1	1q21-q22	2014-09-17			ENSG00000198400	ENSG00000198400	2.7.10.1	"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	8031	protein-coding gene	gene with protein product	"high affinity nerve growth factor receptor"	191315				2869410	Standard	NM_001007792		Approved	TRK, TRKA, MTC	uc001fqh.1	P04629	OTTHUMG00000041304	ENST00000524377.1:c.2083C>T	1.37:g.156849827C>T	ENSP00000431418:p.Pro695Ser	TSP Lung(10;0.080)				NTRK1_ENST00000524377.1_Missense_Mutation_p.P695S|NTRK1_ENST00000358660.3_Missense_Mutation_p.P692S|NTRK1_ENST00000531606.1_3'UTR|NTRK1_ENST00000392302.2_Missense_Mutation_p.P659S	p.P689S	NM_001012331.1	NP_001012331.1	P04629	NTRK1_HUMAN			15	2185	+	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)		695			Protein kinase.		B2R6T5|B7ZM34|P08119|Q15655|Q15656|Q5D056|Q5VZS2|Q7Z5C3|Q9UIU7	Missense_Mutation	SNP	ENST00000524377.1	37	c.2065C>T	CCDS1161.1	.	.	.	.	.	.	.	.	.	.	C	27.3	4.817037	0.90790	.	.	ENSG00000198400	ENST00000392302;ENST00000368196;ENST00000524377;ENST00000358660	D;D;D;D	0.88046	-2.33;-2.33;-2.33;-2.33	4.23	4.23	0.50019	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.56097	D	0.000034	T	0.82226	0.4991	N	0.04275	-0.24	0.80722	D	1	D;D;D;D	0.89917	0.995;0.972;0.998;1.0	D;B;P;D	0.78314	0.946;0.29;0.852;0.991	D	0.88267	0.2927	10	0.87932	D	0	.	15.7052	0.77573	0.0:1.0:0.0:0.0	.	692;689;695;659	A8K3Z4;P04629-2;P04629;A6NF12	.;.;NTRK1_HUMAN;.	S	659;689;695;692	ENSP00000376120:P659S;ENSP00000357179:P689S;ENSP00000431418:P695S;ENSP00000351486:P692S	ENSP00000351486:P692S	P	+	1	0	NTRK1	155116451	1.000000	0.71417	0.997000	0.53966	0.961000	0.63080	7.388000	0.79795	2.362000	0.80069	0.561000	0.74099	CCG		0.647	NTRK1-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000392279.1	NM_002529		4	96	0	0	0	1	0	4	96					T	156849827	C	T	156849827	3	4	16	1	0	0	0	0	1	0	0	0	10706	739	26	3	2275	3	NTRK1	1	156849827	Missense_Mutation	SNP	C	TCGA-CH-5741-01A-11D-1576-08	89642874	156849827	92400794	6	636											
CACNA1S	779	broad.mit.edu	37	chr1	201061108	201061108	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	actgccacccactaggcaccCccgacaccagccggaggggt	9	3	11	18	2	0	0	0	0	0	0	0	2	0	1	6	4	2	1	6	4	1	1			TCGA-CH-5741-01A-11D-1576-08	TCGA-CH-5741-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1be2ab-1f84-46dc-b166-4d703d0e8ffa	3b14c841-4ca0-49a9-b938-de2ebbea8bdf	g.chr1:201061108C>A	ENST00000362061.3	-	4	759	c.533G>T	c.(532-534)gGg>gTg	p.G178V	CACNA1S_ENST00000367338.3_Missense_Mutation_p.G178V	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	178					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport (GO:0006816)|endoplasmic reticulum organization (GO:0007029)|extraocular skeletal muscle development (GO:0002074)|membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|myoblast fusion (GO:0007520)|neuromuscular junction development (GO:0007528)|skeletal muscle adaptation (GO:0043501)|skeletal muscle fiber development (GO:0048741)|skeletal system development (GO:0001501)|striated muscle contraction (GO:0006941)	cytoplasm (GO:0005737)|I band (GO:0031674)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)	p.G178V(1)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	ACTAGGCACCCCCGACACCAG	0.612																																						ENST00000362061.3																			1	Substitution - Missense(1)	p.G178V(1)	prostate(1)	NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102						c.(532-534)gGg>gTg		calcium channel, voltage-dependent, L type, alpha 1S subunit	Magnesium Sulfate(DB00653)|Verapamil(DB00661)						60	59	59					1																	201061108		2203	4300	6503	SO:0001583	missense	779				axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity	g.chr1:201061108C>A	L33798	CCDS1407.1	1q32	2012-03-07			ENSG00000081248	ENSG00000081248		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1397	protein-coding gene	gene with protein product		114208		HOKPP, MHS5, CACNL1A3		7916735, 16382099	Standard	NM_000069		Approved	Cav1.1, hypoPP	uc001gvv.3	Q13698	OTTHUMG00000035784	ENST00000362061.3:c.533G>T	1.37:g.201061108C>A	ENSP00000355192:p.Gly178Val					CACNA1S_ENST00000367338.3_Missense_Mutation_p.G178V	p.G178V	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN			4	759	-			178					A4IF51|B1ALM2|Q12896|Q13934	Missense_Mutation	SNP	ENST00000362061.3	37	c.533G>T	CCDS1407.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.170325	0.78452	.	.	ENSG00000081248	ENST00000362061;ENST00000367338	D;D	0.98264	-4.83;-4.83	4.48	4.48	0.54585	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.98482	0.9494	L	0.56199	1.76	0.80722	D	1	D	0.76494	0.999	D	0.77557	0.99	D	0.99895	1.1144	10	0.87932	D	0	.	17.5103	0.87758	0.0:1.0:0.0:0.0	.	178	Q13698	CAC1S_HUMAN	V	178	ENSP00000355192:G178V;ENSP00000356307:G178V	ENSP00000355192:G178V	G	-	2	0	CACNA1S	199327731	1.000000	0.71417	1.000000	0.80357	0.712000	0.41017	7.256000	0.78350	2.198000	0.70561	0.655000	0.94253	GGG		0.612	CACNA1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087049.1	NM_000069		3	69	1	0	0.115264	1	0.121175	3	69					A	201061108	C	A	201061108	3	1	16	1	0	0	0	0	1	0	0	0	2547	623	22	5	5252	5	CACNA1S	1	201061108	Missense_Mutation	SNP	C	TCGA-CH-5741-01A-11D-1576-08	44211281	201061108	48189513	7	637											
ATP2B4	493	broad.mit.edu	37	chr1	203681221	203681221	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tggggatgacttcctgtgctTagaaggcaaagaattcaacc	12	10	11	8	0	1	3	1	1	0	2	2	4	2	4	2	3	2	2	2	3	5	3			TCGA-CH-5741-01A-11D-1576-08	TCGA-CH-5741-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1be2ab-1f84-46dc-b166-4d703d0e8ffa	3b14c841-4ca0-49a9-b938-de2ebbea8bdf	g.chr1:203681221T>C	ENST00000357681.5	+	13	3288	c.2165T>C	c.(2164-2166)tTa>tCa	p.L722S	ATP2B4_ENST00000367218.3_Missense_Mutation_p.L722S|ATP2B4_ENST00000367219.3_Missense_Mutation_p.L710S|ATP2B4_ENST00000341360.2_Missense_Mutation_p.L722S|ATP2B4_ENST00000391954.2_Missense_Mutation_p.L722S	NM_001684.4	NP_001675.3	P23634	AT2B4_HUMAN	ATPase, Ca++ transporting, plasma membrane 4	722					blood coagulation (GO:0007596)|calcium ion homeostasis (GO:0055074)|calcium ion import across plasma membrane (GO:0098703)|calcium ion transmembrane transport (GO:0070588)|cellular calcium ion homeostasis (GO:0006874)|cellular response to epinephrine stimulus (GO:0071872)|ion transmembrane transport (GO:0034220)|negative regulation of adrenergic receptor signaling pathway involved in heart process (GO:1901205)|negative regulation of arginine catabolic process (GO:1900082)|negative regulation of calcineurin-NFAT signaling cascade (GO:0070885)|negative regulation of cardiac muscle hypertrophy in response to stress (GO:1903243)|negative regulation of citrulline biosynthetic process (GO:1903249)|negative regulation of nitric oxide biosynthetic process (GO:0045019)|negative regulation of nitric oxide mediated signal transduction (GO:0010751)|negative regulation of nitric-oxide synthase activity (GO:0051001)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of the force of heart contraction (GO:0098736)|positive regulation of cAMP-dependent protein kinase activity (GO:2000481)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of sodium ion transmembrane transport (GO:1902305)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to hydrostatic pressure (GO:0051599)|transmembrane transport (GO:0055085)	caveola (GO:0005901)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|calmodulin binding (GO:0005516)|metal ion binding (GO:0046872)|nitric-oxide synthase binding (GO:0050998)|protein phosphatase 2B binding (GO:0030346)|scaffold protein binding (GO:0097110)			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(20)|ovary(2)|prostate(6)|skin(1)|stomach(1)|urinary_tract(3)	56	all_cancers(21;0.071)|all_epithelial(62;0.228)		BRCA - Breast invasive adenocarcinoma(75;0.109)			TTCCTGTGCTTAGAAGGCAAA	0.547																																						ENST00000357681.5																			0				NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(20)|ovary(2)|prostate(6)|skin(1)|stomach(1)|urinary_tract(3)	56						c.(2164-2166)tTa>tCa		ATPase, Ca++ transporting, plasma membrane 4							105	99	101					1																	203681221		2203	4300	6503	SO:0001583	missense	493				ATP biosynthetic process|platelet activation	integral to plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding	g.chr1:203681221T>C	M25874	CCDS1440.1, CCDS30977.1	1q32.1	2010-04-20	2005-05-26		ENSG00000058668	ENSG00000058668	3.6.3.8	"ATPases / P-type"	817	protein-coding gene	gene with protein product	"plasma membrane calcium-transporting ATPase 4"	108732	"matrix-remodelling associated 1"	ATP2B2, MXRA1		1674727	Standard	NM_001001396		Approved	PMCA4	uc001gzw.3	P23634	OTTHUMG00000035906	ENST00000357681.5:c.2165T>C	1.37:g.203681221T>C	ENSP00000350310:p.Leu722Ser					ATP2B4_ENST00000367219.3_Missense_Mutation_p.L710S|ATP2B4_ENST00000391954.2_Missense_Mutation_p.L722S|ATP2B4_ENST00000341360.2_Missense_Mutation_p.L722S|ATP2B4_ENST00000367218.3_Missense_Mutation_p.L722S	p.L722S	NM_001684.4	NP_001675.3	P23634	AT2B4_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.109)		13	3288	+	all_cancers(21;0.071)|all_epithelial(62;0.228)		722					B1APW5|B1APW6|Q13450|Q13452|Q13455|Q16817|Q7Z3S1	Missense_Mutation	SNP	ENST00000357681.5	37	c.2165T>C	CCDS1440.1	.	.	.	.	.	.	.	.	.	.	T	27.9	4.870173	0.91587	.	.	ENSG00000058668	ENST00000357681;ENST00000367218;ENST00000367219;ENST00000391954;ENST00000341360	D;D;D;D;D	0.97529	-4.42;-4.42;-4.42;-4.42;-4.42	5.58	5.58	0.84498	Haloacid dehalogenase-like hydrolase (1);HAD-like domain (1);ATPase, P-type,  transmembrane domain (1);	0.000000	0.41294	D	0.000903	D	0.98820	0.9602	M	0.93375	3.41	0.80722	D	1	D;D;D	0.89917	1.0;0.984;0.999	D;P;D	0.91635	0.999;0.858;0.997	D	0.99741	1.1015	10	0.87932	D	0	-13.6998	15.4121	0.74933	0.0:0.0:0.0:1.0	.	722;722;722	P23634;P23634-6;B1APW5	AT2B4_HUMAN;.;.	S	722;722;710;722;722	ENSP00000350310:L722S;ENSP00000356187:L722S;ENSP00000356188:L710S;ENSP00000375816:L722S;ENSP00000340930:L722S	ENSP00000340930:L722S	L	+	2	0	ATP2B4	201947844	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.940000	0.87693	2.113000	0.64589	0.528000	0.53228	TTA		0.547	ATP2B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087462.1	NM_001001396		3	168	0	0	0	1	0	3	168					C	203681221	T	C	203681221	3	2	16	1	0	0	0	0	1	0	0	0	1142	1764	61	4	2211	4	ATP2B4	1	203681221	Missense_Mutation	SNP	T	TCGA-CH-5741-01A-11D-1576-08	2620113	203681221	45569400	8	638											
CDK18	5129	broad.mit.edu	37	chr1	205493463	205493463	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tctgcccaagccgctcagccGcatgtcccgccgggcctccc	4	6	10	21	4	2	0	1	0	1	0	4	0	4	0	7	1	3	2	7	1	1	0	rs377139154		TCGA-CH-5741-01A-11D-1576-08	TCGA-CH-5741-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1be2ab-1f84-46dc-b166-4d703d0e8ffa	3b14c841-4ca0-49a9-b938-de2ebbea8bdf	g.chr1:205493463G>A	ENST00000360066.2	+	4	678	c.377G>A	c.(376-378)cGc>cAc	p.R126H	CDK18_ENST00000506784.1_Missense_Mutation_p.R156H|CDK18_ENST00000429964.2_Missense_Mutation_p.R126H|CDK18_ENST00000509056.1_Intron	NM_002596.3|NM_212502.2|NM_212503.2	NP_002587.2|NP_997667.1|NP_997668.1	Q07002	CDK18_HUMAN	cyclin-dependent kinase 18	124							ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)			breast(2)|endometrium(2)|large_intestine(2)|lung(10)|stomach(2)|urinary_tract(1)	19						CCGCTCAGCCGCATGTCCCGC	0.612											OREG0014156	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									Pancreas(180;489 2072 28461 40831 44265)	ENST00000360066.2																			0				breast(2)|endometrium(2)|large_intestine(2)|lung(10)|stomach(2)|urinary_tract(1)	19						c.(376-378)cGc>cAc		cyclin-dependent kinase 18		G	HIS/ARG,HIS/ARG,HIS/ARG	0,4406		0,0,2203	77	82	80		377,377,467	4.2	1	1		80	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	CDK18	NM_002596.3,NM_212502.2,NM_212503.2	29,29,29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging,possibly-damaging	126/475,126/475,156/505	205493463	1,13005	2203	4300	6503	SO:0001583	missense	5129						ATP binding|cyclin-dependent protein kinase activity|protein binding|signal transducer activity	g.chr1:205493463G>A	X66362	CCDS1454.1, CCDS44300.1	1q31-q32	2011-11-08	2009-12-16	2009-12-16	ENSG00000117266	ENSG00000117266		"Cyclin-dependent kinases"	8751	protein-coding gene	gene with protein product		169190	"PCTAIRE protein kinase 3"	PCTK3		1437147, 19884882	Standard	NM_002596		Approved	PCTAIRE3	uc010pri.2	Q07002	OTTHUMG00000037203	ENST00000360066.2:c.377G>A	1.37:g.205493463G>A	ENSP00000353176:p.Arg126His		OREG0014156	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	2152	CDK18_ENST00000509056.1_Intron|CDK18_ENST00000429964.2_Missense_Mutation_p.R126H|CDK18_ENST00000506784.1_Missense_Mutation_p.R156H	p.R126H	NM_002596.3|NM_212502.2|NM_212503.2	NP_002587.2|NP_997667.1|NP_997668.1	Q07002	CDK18_HUMAN			4	678	+			124					Q5VXQ2|Q6V3A2|Q6V3A3|Q96F90	Missense_Mutation	SNP	ENST00000360066.2	37	c.377G>A	CCDS44300.1	.	.	.	.	.	.	.	.	.	.	G	27.5	4.835989	0.91117	0.0	1.16E-4	ENSG00000117266	ENST00000429964;ENST00000506784;ENST00000360066;ENST00000478560;ENST00000443813;ENST00000419301	T;T;T;T;T;T	0.71461	-0.57;-0.57;-0.57;0.08;0.65;1.33	5.14	4.21	0.49690	.	0.053949	0.64402	D	0.000001	T	0.74801	0.3764	M	0.82517	2.595	0.80722	D	1	P;P;P;P	0.47841	0.552;0.84;0.901;0.901	B;B;B;B	0.44315	0.168;0.26;0.446;0.446	T	0.79841	-0.1633	10	0.87932	D	0	-18.6789	12.7312	0.57199	0.0:0.0:0.8345:0.1655	.	88;124;156;126	Q59G02;Q07002;Q07002-3;Q07002-2	.;CDK18_HUMAN;.;.	H	126;156;126;37;135;156	ENSP00000399082:R126H;ENSP00000423665:R156H;ENSP00000353176:R126H;ENSP00000423408:R37H;ENSP00000397831:R135H;ENSP00000391324:R156H	ENSP00000353176:R126H	R	+	2	0	CDK18	203760086	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.551000	0.98112	1.367000	0.46095	0.655000	0.94253	CGC		0.612	CDK18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090407.2	NM_002596		4	183	0	0	0	1	0	4	183					A	205493463	G	A	205493463	3	1	16	1	0	0	0	0	1	0	0	0	3134	1087	38	1	477	1	CDK18	1	205493463	Missense_Mutation	SNP	G	TCGA-CH-5741-01A-11D-1576-08	1812242	205493463	43757158	9	639											
EML4	27436	broad.mit.edu	37	chr2	42513409	42513409	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gctgtcttgtgtttttgcagCctctacaaccccacgtcaga	7	13	8	13	1	3	1	1	0	2	1	3	1	3	1	3	0	4	3	3	0	2	4			TCGA-CH-5741-01A-11D-1576-08	TCGA-CH-5741-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1be2ab-1f84-46dc-b166-4d703d0e8ffa	3b14c841-4ca0-49a9-b938-de2ebbea8bdf	g.chr2:42513409C>T	ENST00000318522.5	+	10	1274	c.1012C>T	c.(1012-1014)Cct>Tct	p.P338S	EML4_ENST00000401738.3_Splice_Site_p.P349S|EML4_ENST00000402711.2_Splice_Site_p.P280S	NM_019063.3	NP_061936	Q9HC35	EMAL4_HUMAN	echinoderm microtubule associated protein like 4	338					microtubule-based process (GO:0007017)|mitotic nuclear division (GO:0007067)|negative regulation of microtubule depolymerization (GO:0007026)	cytoplasm (GO:0005737)|membrane (GO:0016020)|microtubule (GO:0005874)|mitotic spindle (GO:0072686)		p.P338S(1)	EML4/ALK(543)	NS(2)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	12						GTTTTTGCAGCCTCTACAACC	0.443			T	ALK	NSCLC																																	ENST00000318522.5				Dom	yes		2	2p21	27436	T	echinoderm microtubule associated protein like 4			E	ALK		NSCLC	EML4/ALK(543)	1	Substitution - Missense(1)	p.P338S(1)	prostate(1)	NS(2)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	12						c.e10-1		echinoderm microtubule associated protein like 4							152	128	136					2																	42513409		2203	4300	6503	SO:0001630	splice_region_variant	27436				microtubule-based process|mitosis	cytoplasm|microtubule	protein binding	g.chr2:42513409C>T	AF177377	CCDS1807.1, CCDS46266.1	2p21	2013-01-10		2002-02-15	ENSG00000143924	ENSG00000143924		"WD repeat domain containing"	1316	protein-coding gene	gene with protein product		607442		C2orf2			Standard	NM_019063		Approved	ROPP120, ELP120	uc002rsi.3	Q9HC35	OTTHUMG00000128603	ENST00000318522.5:c.1012-1C>T	2.37:g.42513409C>T						EML4_ENST00000402711.2_Splice_Site_p.P280_splice|EML4_ENST00000401738.3_Splice_Site_p.P349_splice	p.P338_splice	NM_019063.3	NP_061936.2	Q9HC35	EMAL4_HUMAN			10	1274	+			338					A6H8Y6|B2RBK3|B2RTW7|B5MCW9|Q3SWW0|Q53R29|Q53TW8|Q6PJ45|Q9NV40	Splice_Site	SNP	ENST00000318522.5	37	c.1011_splice	CCDS1807.1	.	.	.	.	.	.	.	.	.	.	C	19.79	3.893864	0.72639	.	.	ENSG00000143924	ENST00000318522;ENST00000402711;ENST00000401738	T;T;T	0.40476	1.03;1.11;1.08	4.94	4.94	0.65067	WD40/YVTN repeat-like-containing domain (1);Quinonprotein alcohol dehydrogenase-like (1);	0.101787	0.64402	D	0.000002	T	0.54046	0.1834	L	0.55481	1.735	0.80722	D	1	B;D;D	0.64830	0.395;0.994;0.994	B;P;P	0.54499	0.147;0.637;0.754	T	0.55798	-0.8084	10	0.51188	T	0.08	-13.2362	18.5327	0.90999	0.0:1.0:0.0:0.0	.	280;349;338	B5MCW9;B5MBZ0;Q9HC35	.;.;EMAL4_HUMAN	S	338;280;349	ENSP00000320663:P338S;ENSP00000385059:P280S;ENSP00000384939:P349S	ENSP00000320663:P338S	P	+	1	0	EML4	42366913	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	1.815000	0.38981	2.438000	0.82558	0.650000	0.86243	CCT		0.443	EML4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250463.3	NM_019063	Missense_Mutation	73	116	0	0	0	1	0	73	116					T	42513409	C	T	42513409	5	4	16	1	0	0	0	0	0	0	1	0	5099	753	26	3	1050	3	EML4	2	42513409	Splice_Site	SNP	C	TCGA-CH-5741-01A-11D-1576-08		42513409	200685964	10	640											
TRIM43	129868	broad.mit.edu	37	chr2	96260870	96260870	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	agagaaatctatatgaggagGgaagaacagccttcctctgg	14	8	12	7	0	2	3	0	1	2	2	3	6	3	5	2	3	2	0	2	3	5	3	rs201221399		TCGA-CH-5741-01A-11D-1576-08	TCGA-CH-5741-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1be2ab-1f84-46dc-b166-4d703d0e8ffa	3b14c841-4ca0-49a9-b938-de2ebbea8bdf	g.chr2:96260870G>A	ENST00000272395.2	+	3	620	c.484G>A	c.(484-486)Gga>Aga	p.G162R		NM_001164464.1|NM_138800.1	NP_001157936.1|NP_620155.1	Q96BQ3	TRI43_HUMAN	tripartite motif containing 43	162						intracellular (GO:0005622)	zinc ion binding (GO:0008270)	p.G162R(2)		breast(1)|large_intestine(3)|lung(7)|ovary(1)	12						ATATGAGGAGGGAAGAACAGC	0.398																																						ENST00000272395.2																			2	Substitution - Missense(2)	p.G162R(2)	lung(2)	breast(1)|large_intestine(3)|lung(7)|ovary(1)	12						c.(484-486)Gga>Aga		tripartite motif containing 43							71	67	68					2																	96260870		2203	4300	6503	SO:0001583	missense	129868					intracellular	zinc ion binding	g.chr2:96260870G>A	BK000505	CCDS2015.1	2q11	2014-02-17	2011-01-25		ENSG00000144015	ENSG00000144015		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	19015	protein-coding gene	gene with protein product			"tripartite motif-containing 43"				Standard	NM_138800		Approved	TRIM43A	uc002suv.3	Q96BQ3	OTTHUMG00000130401	ENST00000272395.2:c.484G>A	2.37:g.96260870G>A	ENSP00000272395:p.Gly162Arg						p.G162R	NM_001164464.1|NM_138800.1	NP_001157936.1|NP_620155.1	Q96BQ3	TRI43_HUMAN			3	620	+			162					Q53TJ7	Missense_Mutation	SNP	ENST00000272395.2	37	c.484G>A	CCDS2015.1	.	.	.	.	.	.	.	.	.	.	.	0.011	-1.704919	0.00719	.	.	ENSG00000144015	ENST00000272395	T	0.04603	3.59	0.911	-1.82	0.07857	.	.	.	.	.	T	0.01730	0.0055	N	0.04297	-0.235	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.40421	-0.9564	9	0.08381	T	0.77	5.3819	2.9369	0.05817	0.51:0.0:0.285:0.205	.	162	Q96BQ3	TRI43_HUMAN	R	162	ENSP00000272395:G162R	ENSP00000272395:G162R	G	+	1	0	TRIM43	95624597	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	-1.758000	0.01810	-2.941000	0.00297	-2.114000	0.00352	GGA		0.398	TRIM43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252784.1	NM_138800		4	76	0	0	0	1	0	4	76					A	96260870	G	A	96260870	3	1	16	1	0	0	0	0	1	0	0	0	16515	1233	43	3	490	3	TRIM43	2	96260870	Missense_Mutation	SNP	G	TCGA-CH-5741-01A-11D-1576-08	53747461	96260870	146938503	11	641											
CYP27C1	339761	broad.mit.edu	37	chr2	127958780	127958780	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgaagccatctggggatggcGcctgcatacatggaggtctt	8	9	14	10	2	2	0	0	0	2	0	2	3	2	2	2	5	3	1	2	5	2	2	rs188173831		TCGA-CH-5741-01A-11D-1576-08	TCGA-CH-5741-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1be2ab-1f84-46dc-b166-4d703d0e8ffa	3b14c841-4ca0-49a9-b938-de2ebbea8bdf	g.chr2:127958780G>T	ENST00000335247.7	-	3	436	c.306C>A	c.(304-306)ggC>ggA	p.G102G	CYP27C1_ENST00000409327.1_Silent_p.G102G	NM_001001665.3	NP_001001665.3	Q4G0S4	C27C1_HUMAN	cytochrome P450, family 27, subfamily C, polypeptide 1	102						membrane (GO:0016020)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen (GO:0016705)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|stomach(1)	16	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.071)		TGGGGATGGCGCCTGCATACA	0.527																																						ENST00000335247.7																			0				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|stomach(1)	16						c.(304-306)ggC>ggA		cytochrome P450, family 27, subfamily C, polypeptide 1							111	114	113					2																	127958780		2203	4300	6503	SO:0001819	synonymous_variant	339761					membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen	g.chr2:127958780G>T	AC027142	CCDS33285.1	2q14.3	2008-05-14	2007-05-18		ENSG00000186684	ENSG00000186684		"Cytochrome P450s"	33480	protein-coding gene	gene with protein product							Standard	NM_001001665		Approved	FLJ16008	uc002tod.2	Q4G0S4	OTTHUMG00000153400	ENST00000335247.7:c.306C>A	2.37:g.127958780G>T						CYP27C1_ENST00000409327.1_Silent_p.G102G	p.G102G	NM_001001665.3	NP_001001665.3	Q4G0S4	C27C1_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.071)	3	436	-	Colorectal(110;0.1)		102					Q6ZNI7	Silent	SNP	ENST00000335247.7	37	c.306C>A	CCDS33285.1																																																																																				0.527	CYP27C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331046.1	NM_001001665		6	276	1	0	0.00307968	1	0.00336712	6	276					T	127958780	G	T	127958780	2	4	16	1	0	0	0	0	0	0	0	1	4160	1074	38	5		5	CYP27C1	2	127958780	Silent	SNP	G	TCGA-CH-5741-01A-11D-1576-08	31697910	127958780	115240593	12	642											
LASS6	253782	broad.mit.edu	37	chr2	169417720	169417720	+	Frame_Shift_Del	DEL	T	T	-																															agcatcctgatgaaaagagaTtggaaggcctctccaagcaa																										TCGA-CH-5741-01A-11D-1576-08	TCGA-CH-5741-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1be2ab-1f84-46dc-b166-4d703d0e8ffa	3b14c841-4ca0-49a9-b938-de2ebbea8bdf	g.chr2:169417720delT	ENST00000305747.6	+	3	882	c.295delT	c.(295-297)ttgfs	p.L99fs	CERS6_ENST00000392687.4_Frame_Shift_Del_p.L99fs	NM_203463.2	NP_982288.1	Q6ZMG9	CERS6_HUMAN	ceramide synthase 6	99					ceramide biosynthetic process (GO:0046513)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sphingosine N-acyltransferase activity (GO:0050291)										TGAAAAGAGATTGGAAGGCCT	0.428																																						ENST00000305747.6																			0											c.(295-297)tgfs		ceramide synthase 6							132	130	131					2																	169417720		2203	4300	6503	SO:0001589	frameshift_variant	253782					endoplasmic reticulum membrane|integral to membrane|nuclear membrane	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sphingosine N-acyltransferase activity	g.chr2:169417720delT	BX393696	CCDS2228.1, CCDS58734.1	2q31	2011-07-11	2011-07-08	2011-07-08	ENSG00000172292	ENSG00000172292		"Homeoboxes / CERS class"	23826	protein-coding gene	gene with protein product		615336	"LAG1 longevity assurance homolog 6 (S. cerevisiae)", "LAG1 homolog, ceramide synthase 6"	LASS6			Standard	NM_203463		Approved		uc002uec.2	Q6ZMG9	OTTHUMG00000132183	ENST00000305747.6:c.295delT	2.37:g.169417720delT	ENSP00000306579:p.Leu99fs					CERS6_ENST00000392687.4_Frame_Shift_Del_p.L99fs	p.L99fs	NM_203463.2	NP_982288.1	Q6ZMG9	CERS6_HUMAN			3	882	+			99					Q32M63|Q8N617	Frame_Shift_Del	DEL	ENST00000305747.6	37	c.295delT	CCDS2228.1																																																																																				0.428	CERS6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255235.2	NM_203463		14	250						14	250	---	---	---	---	-	169417720	T	-	169417720	7	5	16	1	0	1	0	1	0	0	0	0	8643	1490	52	0	305	0	LASS6	2	169417720	Frame_Shift_Del	DEL	T	TCGA-CH-5741-01A-11D-1576-08	41458940	169417720	73781653	13	643											
TTN	7273	broad.mit.edu	37	chr2	179659235	179659235	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tggccatatcaacggcagcaAcaacagtcgcaacagctgca	14	5	9	13	2	1	0	1	0	0	0	2	0	1	0	1	2	7	5	1	2	5	1			TCGA-CH-5741-01A-11D-1576-08	TCGA-CH-5741-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1be2ab-1f84-46dc-b166-4d703d0e8ffa	3b14c841-4ca0-49a9-b938-de2ebbea8bdf	g.chr2:179659235A>T	ENST00000591111.1	-	8	1513	c.1289T>A	c.(1288-1290)gTt>gAt	p.V430D	TTN_ENST00000359218.5_Missense_Mutation_p.V430D|TTN_ENST00000460472.2_Missense_Mutation_p.V430D|TTN_ENST00000360870.5_Missense_Mutation_p.V430D|TTN_ENST00000342175.6_Missense_Mutation_p.V430D|TTN_ENST00000589042.1_Missense_Mutation_p.V430D|TTN_ENST00000342992.6_Missense_Mutation_p.V430D			Q8WZ42	TITIN_HUMAN	titin	0	Ala-rich.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.V430D(7)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AACGGCAGCAACAACAGTCGC	0.458																																						ENST00000589042.1																			7	Substitution - Missense(7)	p.V430D(7)	prostate(7)	NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(1288-1290)gTt>gAt		titin							144	131	135					2																	179659235		2203	4300	6503	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179659235A>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.1289T>A	2.37:g.179659235A>T	ENSP00000465570:p.Val430Asp					TTN_ENST00000360870.5_Missense_Mutation_p.V430D|TTN_ENST00000359218.5_Missense_Mutation_p.V430D|TTN_ENST00000460472.2_Missense_Mutation_p.V430D|TTN_ENST00000591111.1_Missense_Mutation_p.V430D|TTN_ENST00000342992.6_Missense_Mutation_p.V430D|TTN_ENST00000342175.6_Missense_Mutation_p.V430D	p.V430D	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		8	1513	-			430			Ala-rich.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.1289T>A		.	.	.	.	.	.	.	.	.	.	A	15.09	2.729697	0.48833	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127;ENST00000360870;ENST00000436599	T;T;T;T;T;T	0.71222	-0.55;-0.55;-0.55;-0.55;-0.55;-0.55	5.87	5.87	0.94306	Titin Z (1);Ribonuclease H-like (1);	.	.	.	.	T	0.76615	0.4012	L	0.27053	0.805	0.48901	D	0.999724	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.999;0.999;0.999;0.999;0.999	T	0.79797	-0.1652	9	0.87932	D	0	.	15.9548	0.79880	1.0:0.0:0.0:0.0	.	430;430;430;430;430	D3DPF9;E7EQE6;E7ET18;Q8WZ42;Q8WZ42-6	.;.;.;TITIN_HUMAN;.	D	430;430;430;430;430;430;26	ENSP00000343764:V430D;ENSP00000434586:V430D;ENSP00000340554:V430D;ENSP00000352154:V430D;ENSP00000354117:V430D;ENSP00000405517:V26D	ENSP00000340554:V430D	V	-	2	0	TTN	179367480	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.175000	0.77632	2.244000	0.73946	0.533000	0.62120	GTT		0.458	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		9	151	0	0	0	1	0	9	151					T	179659235	A	T	179659235	3	4	16	1	0	0	0	0	1	0	0	0	16732	43	2	5	110119	5	TTN	2	179659235	Missense_Mutation	SNP	A	TCGA-CH-5741-01A-11D-1576-08	10241515	179659235	63540138	14	644											
COL3A1	1281	broad.mit.edu	37	chr2	189856917	189856917	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cttctctttttagggtgctcGgggtaatgacggtgctcgag	5	14	14	8	3	1	1	0	1	1	0	4	2	1	1	0	4	2	3	0	4	2	5			TCGA-CH-5741-01A-11D-1576-08	TCGA-CH-5741-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1be2ab-1f84-46dc-b166-4d703d0e8ffa	3b14c841-4ca0-49a9-b938-de2ebbea8bdf	g.chr2:189856917G>A	ENST00000304636.3	+	14	1129	c.959G>A	c.(958-960)cGg>cAg	p.R320Q	COL3A1_ENST00000317840.5_Missense_Mutation_p.R320Q	NM_000090.3	NP_000081	P02461	CO3A1_HUMAN	collagen, type III, alpha 1	320	Triple-helical region.				aging (GO:0007568)|axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell-matrix adhesion (GO:0007160)|cellular response to amino acid stimulus (GO:0071230)|cerebral cortex development (GO:0021987)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|digestive tract development (GO:0048565)|extracellular fibril organization (GO:0043206)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|integrin-mediated signaling pathway (GO:0007229)|negative regulation of immune response (GO:0050777)|negative regulation of neuron migration (GO:2001223)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|positive regulation of Rho protein signal transduction (GO:0035025)|response to cytokine (GO:0034097)|response to mechanical stimulus (GO:0009612)|response to radiation (GO:0009314)|skeletal system development (GO:0001501)|skin development (GO:0043588)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	collagen type III trimer (GO:0005586)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	extracellular matrix structural constituent (GO:0005201)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)	p.R320Q(1)		NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)	TAGGGTGCTCGGGGTAATGAC	0.378																																						ENST00000304636.3																			1	Substitution - Missense(1)	p.R320Q(1)	prostate(1)	NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126						c.(958-960)cGg>cAg		collagen, type III, alpha 1	Collagenase(DB00048)|Palifermin(DB00039)						146	142	144					2																	189856917		2203	4300	6503	SO:0001583	missense	1281				axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding	g.chr2:189856917G>A	X15332	CCDS2297.1	2q32.2	2014-09-17	2008-06-23		ENSG00000168542	ENSG00000168542		"Collagens"	2201	protein-coding gene	gene with protein product		120180	"Ehlers-Danlos syndrome type IV, autosomal dominant"	EDS4A		2780304, 2834369	Standard	NM_000090		Approved		uc002uqj.1	P02461	OTTHUMG00000132648	ENST00000304636.3:c.959G>A	2.37:g.189856917G>A	ENSP00000304408:p.Arg320Gln					COL3A1_ENST00000317840.5_Missense_Mutation_p.R320Q	p.R320Q	NM_000090.3	NP_000081.1	P02461	CO3A1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		14	1129	+			320			Triple-helical region.		D2JYH5|D3DPH4|P78429|Q15112|Q16403|Q53S91|Q541P8|Q6LDB3|Q6LDJ2|Q6LDJ3|Q7KZ56|Q8N6U4|Q9UC88|Q9UC89|Q9UC90|Q9UC91|R4N3C5|V9GZI1	Missense_Mutation	SNP	ENST00000304636.3	37	c.959G>A	CCDS2297.1	.	.	.	.	.	.	.	.	.	.	G	16.69	3.194327	0.58017	.	.	ENSG00000168542	ENST00000304636;ENST00000317840	D;D	0.93307	-3.2;-3.2	6.06	6.06	0.98353	.	0.000000	0.43416	D	0.000569	D	0.91092	0.7196	N	0.16130	0.375	0.41617	D	0.988946	D	0.58970	0.984	P	0.57679	0.825	D	0.89973	0.4095	10	0.35671	T	0.21	.	12.4187	0.55508	0.0823:0.0:0.9177:0.0	.	320	P02461	CO3A1_HUMAN	Q	320	ENSP00000304408:R320Q;ENSP00000315243:R320Q	ENSP00000304408:R320Q	R	+	2	0	COL3A1	189565162	1.000000	0.71417	0.998000	0.56505	0.500000	0.33767	4.599000	0.61076	2.882000	0.98803	0.655000	0.94253	CGG		0.378	COL3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255899.3	NM_000090		30	190	0	0	0	1	0	30	190					A	189856917	G	A	189856917	3	1	16	1	0	0	0	0	1	0	0	0	3688	1116	39	2	1013	2	COL3A1	2	189856917	Missense_Mutation	SNP	G	TCGA-CH-5741-01A-11D-1576-08	10197682	189856917	53342456	15	645											
PPARG	5468	broad.mit.edu	37	chr3	12475528	12475528	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaagctgctccagaaaatgAcagacctcagacagattgtc	14	7	8	12	0	1	5	1	1	0	4	3	5	2	5	3	0	2	2	3	0	3	1			TCGA-CH-5741-01A-11D-1576-08	TCGA-CH-5741-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1be2ab-1f84-46dc-b166-4d703d0e8ffa	3b14c841-4ca0-49a9-b938-de2ebbea8bdf	g.chr3:12475528A>G	ENST00000287820.6	+	7	1523	c.1402A>G	c.(1402-1404)Aca>Gca	p.T468A	PPARG_ENST00000309576.6_Missense_Mutation_p.T440A|PPARG_ENST00000397015.2_Missense_Mutation_p.T440A|PPARG_ENST00000539812.1_3'UTR|PPARG_ENST00000397026.2_Missense_Mutation_p.T446A|PPARG_ENST00000397012.2_Missense_Mutation_p.T440A|PPARG_ENST00000397010.2_Missense_Mutation_p.T440A|PPARG_ENST00000397000.1_3'UTR	NM_015869.4	NP_056953.2	P37231	PPARG_HUMAN	peroxisome proliferator-activated receptor gamma	468	Ligand-binding.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|brown fat cell differentiation (GO:0050873)|cell fate commitment (GO:0045165)|cell maturation (GO:0048469)|cellular response to insulin stimulus (GO:0032869)|cellular response to lithium ion (GO:0071285)|epithelial cell differentiation (GO:0030855)|fatty acid oxidation (GO:0019395)|G-protein coupled receptor signaling pathway (GO:0007186)|gene expression (GO:0010467)|glucose homeostasis (GO:0042593)|heart development (GO:0007507)|innate immune response (GO:0045087)|lipid homeostasis (GO:0055088)|lipid metabolic process (GO:0006629)|lipoprotein transport (GO:0042953)|long-chain fatty acid transport (GO:0015909)|low-density lipoprotein particle receptor biosynthetic process (GO:0045713)|monocyte differentiation (GO:0030224)|negative regulation of acute inflammatory response (GO:0002674)|negative regulation of cell growth (GO:0030308)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of interferon-gamma-mediated signaling pathway (GO:0060336)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|negative regulation of receptor biosynthetic process (GO:0010871)|negative regulation of sequestering of triglyceride (GO:0010891)|negative regulation of smooth muscle cell proliferation (GO:0048662)|negative regulation of telomerase activity (GO:0051974)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|organ regeneration (GO:0031100)|peroxisome proliferator activated receptor signaling pathway (GO:0035357)|placenta development (GO:0001890)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of fatty acid oxidation (GO:0046321)|positive regulation of oligodendrocyte differentiation (GO:0048714)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of blood pressure (GO:0008217)|regulation of cholesterol transporter activity (GO:0060694)|regulation of transcription involved in cell fate commitment (GO:0060850)|response to caffeine (GO:0031000)|response to cold (GO:0009409)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to lipid (GO:0033993)|response to low-density lipoprotein particle (GO:0055098)|response to nutrient (GO:0007584)|response to retinoic acid (GO:0032526)|response to vitamin A (GO:0033189)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)|white fat cell differentiation (GO:0050872)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	activating transcription factor binding (GO:0033613)|arachidonic acid binding (GO:0050544)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|drug binding (GO:0008144)|enzyme binding (GO:0019899)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|prostaglandin receptor activity (GO:0004955)|retinoid X receptor binding (GO:0046965)|RNA polymerase II regulatory region DNA binding (GO:0001012)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.T468A(1)	PAX8/PPARG(117)	breast(2)|endometrium(4)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)	20					Balsalazide(DB01014)|Bezafibrate(DB01393)|Glipizide(DB01067)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Mesalazine(DB00244)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Pioglitazone(DB01132)|Repaglinide(DB00912)|Rosiglitazone(DB00412)|Sulfasalazine(DB00795)|Telmisartan(DB00966)	CCAGAAAATGACAGACCTCAG	0.522			T	PAX8	follicular thyroid		"Insulin resistance ; lipodystrophy, familial partial L;diabetes mellitus, insulin-resistantI, with acanthosis nigricans and hypertension"																															ENST00000397026.2				Dom	yes		3	3p25	5468	T	"peroxisome proliferative activated receptor, gamma"	yes	"Insulin resistance ; lipodystrophy, familial partial L;diabetes mellitus, insulin-resistantI, with acanthosis nigricans and hypertension"	E	PAX8		follicular thyroid	PAX8/PPARG(117)	1	Substitution - Missense(1)	p.T468A(1)	prostate(1)	breast(2)|endometrium(4)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)	20						c.(1336-1338)Aca>Gca		peroxisome proliferator-activated receptor gamma	Atorvastatin(DB01076)|Icosapent(DB00159)|Pioglitazone(DB01132)|Rosiglitazone(DB00412)|Troglitazone(DB00197)						89	79	83					3																	12475528		2203	4300	6503	SO:0001583	missense	5468				activation of caspase activity|cell fate commitment|cell maturation|cellular response to insulin stimulus|epithelial cell differentiation|glucose homeostasis|induction of apoptosis|innate immune response|lipid homeostasis|lipoprotein transport|long-chain fatty acid transport|low-density lipoprotein particle receptor biosynthetic process|monocyte differentiation|negative regulation of cholesterol storage|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of macrophage derived foam cell differentiation|negative regulation of receptor biosynthetic process|negative regulation of sequestering of triglyceride|negative regulation of transcription from RNA polymerase II promoter|placenta development|positive regulation of fat cell differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to lipid|response to low-density lipoprotein particle stimulus|white fat cell differentiation	cytosol|nucleoplasm	activating transcription factor binding|arachidonic acid binding|drug binding|enzyme binding|prostaglandin receptor activity|retinoid X receptor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr3:12475528A>G	X90563	CCDS2609.1, CCDS2610.2	3p25	2013-01-16	2006-10-17		ENSG00000132170	ENSG00000132170		"Nuclear hormone receptors"	9236	protein-coding gene	gene with protein product		601487	"peroxisome proliferative activated receptor, gamma"			7862171, 9750197	Standard	NM_005037		Approved	PPARG1, PPARG2, NR1C3, PPARgamma	uc003bwx.3	P37231	OTTHUMG00000129764	ENST00000287820.6:c.1402A>G	3.37:g.12475528A>G	ENSP00000287820:p.Thr468Ala					PPARG_ENST00000309576.6_Missense_Mutation_p.T440A|PPARG_ENST00000287820.6_Missense_Mutation_p.T468A|PPARG_ENST00000397000.1_3'UTR|PPARG_ENST00000397012.2_Missense_Mutation_p.T440A|PPARG_ENST00000539812.1_3'UTR|PPARG_ENST00000397010.2_Missense_Mutation_p.T440A|PPARG_ENST00000397015.2_Missense_Mutation_p.T440A	p.T446A			P37231	PPARG_HUMAN			9	1719	+			468			Ligand-binding.		A8K3G6|B5BUA1|O00684|O00710|O14515|Q0QJH8|Q15178|Q15179|Q15180|Q15832|Q86U60|Q96J12	Missense_Mutation	SNP	ENST00000287820.6	37	c.1336A>G	CCDS2609.1	.	.	.	.	.	.	.	.	.	.	A	9.919	1.211687	0.22289	.	.	ENSG00000132170	ENST00000397010;ENST00000309576;ENST00000397015;ENST00000397012;ENST00000397026;ENST00000287820	T;T;T;T;T;T	0.70164	-0.46;-0.46;-0.46;-0.46;-0.46;-0.46	5.61	5.61	0.85477	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	0.000000	0.85682	D	0.000000	T	0.54175	0.1842	N	0.11892	0.195	0.80722	D	1	P	0.39903	0.694	P	0.45558	0.485	T	0.52328	-0.8590	10	0.11485	T	0.65	.	15.8526	0.78943	1.0:0.0:0.0:0.0	.	468	P37231	PPARG_HUMAN	A	440;440;440;440;446;468	ENSP00000380205:T440A;ENSP00000312472:T440A;ENSP00000380210:T440A;ENSP00000380207:T440A;ENSP00000380221:T446A;ENSP00000287820:T468A	ENSP00000287820:T468A	T	+	1	0	PPARG	12450528	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.634000	0.54302	2.147000	0.66899	0.529000	0.55759	ACA		0.522	PPARG-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251979.2	NM_005037		3	101	0	0	0	1	0	3	101					G	12475528	A	G	12475528	3	3	16	1	0	0	0	0	1	0	0	0	12299	275	10	4	1428	4	PPARG	3	12475528	Missense_Mutation	SNP	A	TCGA-CH-5741-01A-11D-1576-08		12475528	185546902	16	646											
XIRP1	165904	broad.mit.edu	37	chr3	39230128	39230128	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gccgggtctcaaagagccagCgggcagacctcaccgcgttg	8	5	14	14	4	2	2	2	0	1	2	3	2	2	2	4	2	2	2	4	2	1	1	rs200664748		TCGA-CH-5741-01A-11D-1576-08	TCGA-CH-5741-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1be2ab-1f84-46dc-b166-4d703d0e8ffa	3b14c841-4ca0-49a9-b938-de2ebbea8bdf	g.chr3:39230128C>T	ENST00000340369.3	-	2	1037	c.809G>A	c.(808-810)cGc>cAc	p.R270H	XIRP1_ENST00000396251.1_Missense_Mutation_p.R270H|XIRP1_ENST00000421646.1_Intron	NM_194293.2	NP_919269.2	Q702N8	XIRP1_HUMAN	xin actin-binding repeat containing 1	270					cardiac muscle cell development (GO:0055013)|negative regulation of cell proliferation (GO:0008285)|regulation of membrane potential (GO:0042391)|sarcomere organization (GO:0045214)	fascia adherens (GO:0005916)	poly(A) RNA binding (GO:0044822)	p.R270H(1)		breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6)	71				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		AAAGAGCCAGCGGGCAGACCT	0.677													C|||	1	0.000199681	0	0.0014	5008	,	,		17187	0		0	False		,,,				2504	0					ENST00000340369.3																			1	Substitution - Missense(1)	p.R270H(1)	prostate(1)	breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6)	71						c.(808-810)cGc>cAc		xin actin-binding repeat containing 1							53	56	55					3																	39230128		2203	4300	6503	SO:0001583	missense	165904						actin binding	g.chr3:39230128C>T	AW755250	CCDS2683.1, CCDS56245.1	3p21.33	2008-02-05	2007-06-27	2007-06-27	ENSG00000168334	ENSG00000168334			14301	protein-coding gene	gene with protein product		609777	"cardiomyopathy associated 1"	CMYA1		12203715, 15454575	Standard	NM_001198621		Approved	DKFZp451D042, Xin	uc003cjk.2	Q702N8	OTTHUMG00000131297	ENST00000340369.3:c.809G>A	3.37:g.39230128C>T	ENSP00000343140:p.Arg270His					XIRP1_ENST00000421646.1_Intron|XIRP1_ENST00000396251.1_Missense_Mutation_p.R270H	p.R270H	NM_194293.2	NP_919269.2	Q702N8	XIRP1_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)	2	1037	-			270					A0JP25|A4QPE2|Q68DF2|Q6ZTR3|Q702N9|Q8IVN7|Q8N1N3|Q8N904|Q8TCG7	Missense_Mutation	SNP	ENST00000340369.3	37	c.809G>A	CCDS2683.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	25.5	4.642811	0.87859	.	.	ENSG00000168334	ENST00000396251;ENST00000340369	T;T	0.12255	2.7;3.03	4.95	4.95	0.65309	.	0.060143	0.64402	D	0.000007	T	0.38719	0.1051	M	0.76574	2.34	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	T	0.22382	-1.0218	10	0.87932	D	0	.	16.0762	0.80969	0.0:1.0:0.0:0.0	.	270;270	Q702N8;Q702N8-2	XIRP1_HUMAN;.	H	270	ENSP00000379550:R270H;ENSP00000343140:R270H	ENSP00000343140:R270H	R	-	2	0	XIRP1	39205132	1.000000	0.71417	0.998000	0.56505	0.921000	0.55340	7.438000	0.80431	2.475000	0.83589	0.591000	0.81541	CGC		0.677	XIRP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254065.1	XM_093522		42	73	0	0	0	1	0	42	73					T	39230128	C	T	39230128	3	4	16	1	0	0	0	0	1	0	0	0	17426	768	27	1	4726	1	XIRP1	3	39230128	Missense_Mutation	SNP	C	TCGA-CH-5741-01A-11D-1576-08	26754600	39230128	158792302	17	647											
CCDC51	79714	broad.mit.edu	37	chr3	48476330	48476330	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aggtcgctcgttgctgaatgCtgtgccccagggctcttccc	4	11	12	14	2	1	1	0	1	1	0	4	1	2	1	3	2	3	5	3	2	1	2			TCGA-CH-5741-01A-11D-1576-08	TCGA-CH-5741-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1be2ab-1f84-46dc-b166-4d703d0e8ffa	3b14c841-4ca0-49a9-b938-de2ebbea8bdf	g.chr3:48476330C>T	ENST00000395694.2	-	2	294	c.209G>A	c.(208-210)aGc>aAc	p.S70N	CCDC51_ENST00000412398.2_5'UTR|CCDC51_ENST00000442740.1_5'UTR|CCDC51_ENST00000447018.1_5'UTR|CCDC51_ENST00000395696.1_Missense_Mutation_p.S70N	NM_001256964.1	NP_001243893.1	Q96ER9	CCD51_HUMAN	coiled-coil domain containing 51	70						integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|nucleus (GO:0005634)				endometrium(4)|kidney(4)|large_intestine(1)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	15				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		TTGCTGAATGCTGTGCCCCAG	0.612																																						ENST00000395694.2																			0				endometrium(4)|kidney(4)|large_intestine(1)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						c.(208-210)aGc>aAc		coiled-coil domain containing 51							76	79	78					3																	48476330		1995	4172	6167	SO:0001583	missense	79714					integral to membrane		g.chr3:48476330C>T	AK022498	CCDS2766.2, CCDS58830.1	3p21.31	2005-12-30			ENSG00000164051	ENSG00000164051			25714	protein-coding gene	gene with protein product						12477932	Standard	NM_001256964		Approved	FLJ12436	uc003ctc.3	Q96ER9	OTTHUMG00000133534	ENST00000395694.2:c.209G>A	3.37:g.48476330C>T	ENSP00000379047:p.Ser70Asn					CCDC51_ENST00000395696.1_Missense_Mutation_p.S70N|CCDC51_ENST00000442740.1_5'UTR|CCDC51_ENST00000447018.1_5'UTR|CCDC51_ENST00000412398.2_5'UTR	p.S70N	NM_001256964.1	NP_001243893.1	Q96ER9	CCD51_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)	2	294	-			70					Q9HA01	Missense_Mutation	SNP	ENST00000395694.2	37	c.209G>A	CCDS2766.2	.	.	.	.	.	.	.	.	.	.	C	2.345	-0.350203	0.05173	.	.	ENSG00000164051	ENST00000395694;ENST00000395696;ENST00000446140	T;T;T	0.28255	1.62;1.62;1.62	4.77	0.491	0.16867	.	0.682763	0.16202	N	0.224841	T	0.11410	0.0278	N	0.12746	0.255	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.33497	-0.9866	10	0.05721	T	0.95	-17.4712	4.7389	0.13003	0.0:0.3626:0.3184:0.319	.	70	Q96ER9	CCD51_HUMAN	N	70	ENSP00000379047:S70N;ENSP00000379049:S70N;ENSP00000409494:S70N	ENSP00000379047:S70N	S	-	2	0	CCDC51	48451334	0.293000	0.24371	0.459000	0.27081	0.941000	0.58515	-0.211000	0.09332	0.099000	0.17552	0.467000	0.42956	AGC		0.612	CCDC51-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344599.2	NM_024661		4	176	0	0	0	1	0	4	176					T	48476330	C	T	48476330	3	4	16	1	0	0	0	0	1	0	0	0	2821	797	28	3	1038	3	CCDC51	3	48476330	Missense_Mutation	SNP	C	TCGA-CH-5741-01A-11D-1576-08	9246202	48476330	149546100	18	648											
KCNIP4	80333	broad.mit.edu	37	chr4	20751288	20751288	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aataatccagagcttacctcGaaactcacagctccattgtg	13	10	6	12	1	1	1	1	0	0	1	4	2	3	1	3	0	4	2	3	0	4	3			TCGA-CH-5741-01A-11D-1576-08	TCGA-CH-5741-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1be2ab-1f84-46dc-b166-4d703d0e8ffa	3b14c841-4ca0-49a9-b938-de2ebbea8bdf	g.chr4:20751288G>A	ENST00000382152.2	-	5	593	c.426C>T	c.(424-426)ttC>ttT	p.F142F	KCNIP4_ENST00000359001.5_Silent_p.F80F|KCNIP4_ENST00000382148.3_Silent_p.F117F|KCNIP4_ENST00000447367.2_Silent_p.F108F|KCNIP4_ENST00000509207.1_Silent_p.F80F|KCNIP4_ENST00000382149.4_5'UTR|KCNIP4_ENST00000382150.4_Silent_p.F121F|PACRGL_ENST00000507634.1_Intron	NM_025221.5	NP_079497.2	Q6PIL6	KCIP4_HUMAN	Kv channel interacting protein 4	142	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.					dendrite (GO:0030425)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|potassium channel activity (GO:0005267)|voltage-gated ion channel activity (GO:0005244)	p.F121F(2)|p.F108F(2)		NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	13		Breast(46;0.134)				AGCTTACCTCGAAACTCACAG	0.358																																						ENST00000382148.3																			4	Substitution - coding silent(4)	p.F121F(2)|p.F108F(2)	large_intestine(2)|prostate(2)	NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	13						c.(349-351)ttC>ttT		Kv channel interacting protein 4							105	96	99					4																	20751288		2203	4300	6503	SO:0001819	synonymous_variant	80333					plasma membrane	calcium ion binding|potassium channel activity|protein binding|voltage-gated ion channel activity	g.chr4:20751288G>A	AF453244	CCDS3428.1, CCDS43215.1, CCDS43216.1, CCDS43217.1, CCDS47035.1	4p15.32	2013-01-10			ENSG00000185774	ENSG00000185774		"EF-hand domain containing"	30083	protein-coding gene	gene with protein product		608182				11805342, 11847232	Standard	XM_005248190		Approved	CALP, KCHIP4, MGC44947	uc003gqh.1	Q6PIL6	OTTHUMG00000128557	ENST00000382152.2:c.426C>T	4.37:g.20751288G>A						KCNIP4_ENST00000447367.2_Silent_p.F108F|PACRGL_ENST00000507634.1_Intron|KCNIP4_ENST00000382152.2_Silent_p.F142F|KCNIP4_ENST00000359001.5_Silent_p.F80F|KCNIP4_ENST00000382149.4_5'UTR|KCNIP4_ENST00000509207.1_Silent_p.F80F|KCNIP4_ENST00000382150.4_Silent_p.F121F	p.F117F	NM_001035003.1	NP_001030175.1	Q6PIL6	KCIP4_HUMAN			4	687	-		Breast(46;0.134)	142			EF-hand 1; degenerate.		Q3YAB8|Q3YAB9|Q3YAC0|Q3YAC1|Q3YAC2|Q4W5G8|Q8NEU0|Q9BWT2|Q9H294|Q9H2A4	Silent	SNP	ENST00000382152.2	37	c.351C>T	CCDS43216.1																																																																																				0.358	KCNIP4-004	KNOWN	non_canonical_conserved|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000360407.3	NM_025221		22	85	0	0	0	1	0	22	85					A	20751288	G	A	20751288	2	1	16	1	0	0	0	0	0	0	0	1	8042	1049	37	2		2	KCNIP4	4	20751288	Silent	SNP	G	TCGA-CH-5741-01A-11D-1576-08		20751288	170402988	19	649											
ATG12	9140	broad.mit.edu	37	chr5	115177236	115177236	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaagctgcaacacagactgcGgctcctccgccatcttgctt	8	9	9	15	2	1	1	0	0	1	1	3	2	3	1	3	1	5	4	3	1	2	2			TCGA-CH-5741-01A-11D-1576-08	TCGA-CH-5741-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1be2ab-1f84-46dc-b166-4d703d0e8ffa	3b14c841-4ca0-49a9-b938-de2ebbea8bdf	g.chr5:115177236G>A	ENST00000509910.1	-	1	319	c.14C>T	c.(13-15)cCg>cTg	p.P5L	ATG12_ENST00000500945.2_Missense_Mutation_p.P5L|ATG12_ENST00000274459.4_Missense_Mutation_p.P52L|ATG12_ENST00000509598.1_5'Flank|AP3S1_ENST00000316788.7_5'UTR			O94817	ATG12_HUMAN	autophagy related 12	5					autophagic vacuole assembly (GO:0000045)|C-terminal protein lipidation (GO:0006501)|cellular response to nitrogen starvation (GO:0006995)|innate immune response (GO:0045087)|mitochondrion degradation (GO:0000422)|negative regulation of type I interferon production (GO:0032480)|nucleophagy (GO:0044804)	Atg12-Atg5-Atg16 complex (GO:0034274)|pre-autophagosomal structure membrane (GO:0034045)	Atg8 ligase activity (GO:0019776)	p.P52L(1)		endometrium(2)|kidney(1)|lung(1)|prostate(1)	5		all_cancers(142;0.00377)|all_epithelial(76;0.000129)|Prostate(80;0.0132)|Ovarian(225;0.0776)|Lung NSC(810;0.245)		OV - Ovarian serous cystadenocarcinoma(64;7.59e-08)|Epithelial(69;7.05e-07)|all cancers(49;3.11e-05)		CACAGACTGCGGCTCCTCCGC	0.607																																						ENST00000509910.1																			1	Substitution - Missense(1)	p.P52L(1)	prostate(1)	endometrium(2)|kidney(1)|lung(1)|prostate(1)	5						c.(13-15)cCg>cTg		autophagy related 12							76	85	82					5																	115177236		2202	4300	6502	SO:0001583	missense	9140				autophagic vacuole assembly|negative regulation of type I interferon production	pre-autophagosomal structure membrane	protein binding	g.chr5:115177236G>A	AB017507	CCDS4122.1, CCDS4122.2, CCDS64222.1	5q21-q22	2014-02-12	2012-06-06	2005-09-11	ENSG00000145782	ENSG00000145782			588	protein-coding gene	gene with protein product	"APG12 autophagy 12-like"	609608	"Apg12 (autophagy 12, S. cerevisiae)-like", "APG12 autophagy 12-like (S. cerevisiae)", "ATG12 autophagy related 12 homolog (S. cerevisiae)"	APG12L		9852036	Standard	NM_004707		Approved	APG12	uc003krh.3	O94817	OTTHUMG00000128889	ENST00000509910.1:c.14C>T	5.37:g.115177236G>A	ENSP00000425107:p.Pro5Leu					AP3S1_ENST00000316788.7_5'UTR|ATG12_ENST00000274459.4_Missense_Mutation_p.P52L|ATG12_ENST00000500945.2_Missense_Mutation_p.P5L	p.P5L			O94817	ATG12_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;7.59e-08)|Epithelial(69;7.05e-07)|all cancers(49;3.11e-05)	1	319	-		all_cancers(142;0.00377)|all_epithelial(76;0.000129)|Prostate(80;0.0132)|Ovarian(225;0.0776)|Lung NSC(810;0.245)	5					Q6PJV2	Missense_Mutation	SNP	ENST00000509910.1	37	c.14C>T	CCDS4122.2	.	.	.	.	.	.	.	.	.	.	G	16.39	3.109715	0.56398	.	.	ENSG00000145782	ENST00000274459;ENST00000509910;ENST00000500945	.	.	.	4.87	2.96	0.34315	.	0.956568	0.08681	N	0.909454	T	0.33644	0.0870	L	0.51422	1.61	0.23661	N	0.99718	D;P	0.58268	0.982;0.553	B;B	0.41723	0.365;0.054	T	0.22138	-1.0225	9	0.87932	D	0	-2.7118	8.8274	0.35063	0.0:0.1546:0.6621:0.1832	.	5;52	O94817;C1IDX9	ATG12_HUMAN;.	L	52;5;5	.	ENSP00000274459:P52L	P	-	2	0	ATG12	115205135	0.000000	0.05858	0.002000	0.10522	0.028000	0.11728	0.361000	0.20267	1.006000	0.39211	-0.274000	0.10170	CCG		0.607	ATG12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250851.3	NM_004707		81	92	0	0	0	1	0	81	92					A	115177236	G	A	115177236	3	1	16	1	0	0	0	0	1	0	0	0	1090	1116	39	2	424	2	ATG12	5	115177236	Missense_Mutation	SNP	G	TCGA-CH-5741-01A-11D-1576-08		115177236	65738024	20	650											
PCDHA5	56143	broad.mit.edu	37	chr5	140202486	140202486	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctgatcagcgtgtctgacCgtgactcaggtgccaacggg	7	9	13	12	3	4	3	2	3	2	0	4	3	4	3	2	2	3	0	2	2	1	0			TCGA-CH-5741-01A-11D-1576-08	TCGA-CH-5741-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1be2ab-1f84-46dc-b166-4d703d0e8ffa	3b14c841-4ca0-49a9-b938-de2ebbea8bdf	g.chr5:140202486C>T	ENST00000529859.1	+	1	1126	c.1126C>T	c.(1126-1128)Cgt>Tgt	p.R376C	PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Missense_Mutation_p.R376C|PCDHA5_ENST00000378126.3_Missense_Mutation_p.R376C	NM_018908.2	NP_061731.1	Q9Y5H7	PCDA5_HUMAN	protocadherin alpha 5	376	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.R376S(2)|p.R376C(2)		NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(3)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGTGTCTGACCGTGACTCAGG	0.542																																						ENST00000529859.1																			4	Substitution - Missense(4)	p.R376S(2)|p.R376C(2)	prostate(2)|lung(2)	NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(3)	60						c.(1126-1128)Cgt>Tgt									116	103	108					5																	140202486		2203	4300	6503	SO:0001583	missense	0							g.chr5:140202486C>T	AF152483	CCDS54917.1	5q31	2010-11-26				ENSG00000204965		"Cadherins / Protocadherins : Clustered"	8671	other	complex locus constituent	"ortholog of mouse CNR6", "KIAA0345-like 9"	606311		CNRS6		10380929, 10662547	Standard	NM_018908		Approved	CNR6, CRNR6, CNRN6, PCDH-ALPHA5		Q9Y5H7		ENST00000529859.1:c.1126C>T	5.37:g.140202486C>T	ENSP00000436557:p.Arg376Cys					PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Missense_Mutation_p.R376C|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000378126.3_Missense_Mutation_p.R376C	p.R376C	NM_018908.2	NP_061731.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1126	+								O75284|Q8N4R3	Missense_Mutation	SNP	ENST00000529859.1	37	c.1126C>T	CCDS54917.1	.	.	.	.	.	.	.	.	.	.	C	7.320	0.616737	0.14129	.	.	ENSG00000204965	ENST00000529619;ENST00000529859;ENST00000378126	T;T;T	0.54071	0.59;0.59;0.59	3.84	3.84	0.44239	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.64103	0.2568	M	0.88979	2.995	0.20489	N	0.999891	P;P;P	0.48998	0.882;0.857;0.918	P;B;B	0.46110	0.504;0.154;0.154	T	0.62364	-0.6870	9	0.72032	D	0.01	.	12.1639	0.54119	0.1718:0.8282:0.0:0.0	.	376;376;376	Q9Y5H7;Q9Y5H7-3;Q9Y5H7-2	PCDA5_HUMAN;.;.	C	376	ENSP00000433416:R376C;ENSP00000436557:R376C;ENSP00000367366:R376C	ENSP00000367366:R376C	R	+	1	0	PCDHA5	140182670	0.000000	0.05858	0.154000	0.22540	0.463000	0.32649	-1.162000	0.03141	1.829000	0.53265	0.563000	0.77884	CGT		0.542	PCDHA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372883.2	NM_018908		14	186	0	0	0	1	0	14	186					T	140202486	C	T	140202486	3	4	16	1	0	0	0	0	1	0	0	0	11527	652	23	2	1128	2	PCDHA5	5	140202486	Missense_Mutation	SNP	C	TCGA-CH-5741-01A-11D-1576-08	25025250	140202486	40712774	21	651											
DLX5	1749	broad.mit.edu	37	chr7	96653697	96653697	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agctcccggcggagccgttcAcgccgtgatactgatactgg	7	8	13	13	5	1	2	1	2	0	0	2	3	2	3	3	3	4	2	3	3	2	3	rs149635296	byFrequency	TCGA-CH-5741-01A-11D-1576-08	TCGA-CH-5741-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1be2ab-1f84-46dc-b166-4d703d0e8ffa	3b14c841-4ca0-49a9-b938-de2ebbea8bdf	g.chr7:96653697A>T	ENST00000222598.4	-	1	712	c.239T>A	c.(238-240)gTg>gAg	p.V80E	DLX5_ENST00000493764.1_5'UTR|DLX5_ENST00000486603.2_Missense_Mutation_p.V80E	NM_005221.5	NP_005212.1	P56178	DLX5_HUMAN	distal-less homeobox 5	80					anatomical structure formation involved in morphogenesis (GO:0048646)|axon guidance (GO:0007411)|BMP signaling pathway (GO:0030509)|cell proliferation (GO:0008283)|cellular response to BMP stimulus (GO:0071773)|embryonic limb morphogenesis (GO:0030326)|endochondral ossification (GO:0001958)|epithelial cell differentiation (GO:0030855)|face morphogenesis (GO:0060325)|inner ear morphogenesis (GO:0042472)|nervous system development (GO:0007399)|olfactory pit development (GO:0060166)|osteoblast differentiation (GO:0001649)|palate development (GO:0060021)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus (GO:1901522)|positive regulation of transcription, DNA-templated (GO:0045893)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|transcription regulatory region DNA binding (GO:0044212)	p.V80E(1)		central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)	20	all_cancers(62;9.56e-09)|all_epithelial(64;7.38e-09)|Esophageal squamous(72;0.0125)|all_lung(186;0.0855)|Lung NSC(181;0.0858)					GGAGCCGTTCACGCCGTGATA	0.612																																						ENST00000222598.4																			1	Substitution - Missense(1)	p.V80E(1)	prostate(1)	central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)	20						c.(238-240)gTg>gAg		distal-less homeobox 5							56	56	56					7																	96653697		2203	4300	6503	SO:0001583	missense	1749				cell proliferation|endochondral ossification|osteoblast differentiation|positive regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	g.chr7:96653697A>T		CCDS5647.1	7q21.3	2011-06-20	2005-12-22		ENSG00000105880	ENSG00000105880		"Homeoboxes / ANTP class : NKL subclass"	2918	protein-coding gene	gene with protein product		600028	"distal-less homeo box 5"			7907794	Standard	XM_005250185		Approved		uc003uon.3	P56178	OTTHUMG00000154200	ENST00000222598.4:c.239T>A	7.37:g.96653697A>T	ENSP00000222598:p.Val80Glu					DLX5_ENST00000493764.1_5'UTR|DLX5_ENST00000486603.2_Missense_Mutation_p.V80E	p.V80E	NM_005221.5	NP_005212.1	P56178	DLX5_HUMAN			1	712	-	all_cancers(62;9.56e-09)|all_epithelial(64;7.38e-09)|Esophageal squamous(72;0.0125)|all_lung(186;0.0855)|Lung NSC(181;0.0858)		80					B7Z4P3|Q9UPL1	Missense_Mutation	SNP	ENST00000222598.4	37	c.239T>A	CCDS5647.1	.	.	.	.	.	.	.	.	.	.	A	18.61	3.661742	0.67700	.	.	ENSG00000105880	ENST00000222598	D	0.89681	-2.55	4.97	3.8	0.43715	.	0.121727	0.56097	D	0.000039	D	0.88858	0.6551	M	0.69823	2.125	0.50632	D	0.999888	P;B	0.35208	0.49;0.185	B;B	0.42319	0.383;0.266	D	0.84875	0.0827	10	0.25751	T	0.34	-10.2441	11.9679	0.53047	0.8548:0.1452:0.0:0.0	.	80;80	B7Z4P3;P56178	.;DLX5_HUMAN	E	80	ENSP00000222598:V80E	ENSP00000222598:V80E	V	-	2	0	DLX5	96491633	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.261000	0.78400	0.895000	0.36342	0.459000	0.35465	GTG		0.612	DLX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334371.2			22	58	0	0	0	1	0	22	58					T	96653697	A	T	96653697	3	4	16	1	0	0	0	0	1	0	0	0	4574	159	6	5	642	5	DLX5	7	96653697	Missense_Mutation	SNP	A	TCGA-CH-5741-01A-11D-1576-08		96653697	62484966	22	652											
DENND2A	27147	broad.mit.edu	37	chr7	140301371	140301371	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	catctttgtccccttctccgGcatgtttgaacgttctccgg	4	15	8	14	3	3	1	0	1	3	0	6	1	4	1	4	2	1	3	4	2	1	4			TCGA-CH-5741-01A-11D-1576-08	TCGA-CH-5741-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1be2ab-1f84-46dc-b166-4d703d0e8ffa	3b14c841-4ca0-49a9-b938-de2ebbea8bdf	g.chr7:140301371G>A	ENST00000275884.6	-	2	1244	c.827C>T	c.(826-828)gCc>gTc	p.A276V	DENND2A_ENST00000496613.1_Missense_Mutation_p.A276V|DENND2A_ENST00000537639.1_Missense_Mutation_p.A276V|DENND2A_ENST00000492720.1_Missense_Mutation_p.A276V			Q9ULE3	DEN2A_HUMAN	DENN/MADD domain containing 2A	276					positive regulation of Rab GTPase activity (GO:0032851)|protein transport (GO:0015031)|retrograde transport, endosome to Golgi (GO:0042147)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(22)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49	Melanoma(164;0.00956)					CCCTTCTCCGGCATGTTTGAA	0.582																																						ENST00000275884.6																			0				breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(22)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49						c.(826-828)gCc>gTc		DENN/MADD domain containing 2A							117	125	123					7																	140301371		1959	4145	6104	SO:0001583	missense	27147							g.chr7:140301371G>A	AB033103	CCDS43659.1	7q34	2012-10-03	2005-08-17	2005-08-17	ENSG00000146966	ENSG00000146966		"DENN/MADD domain containing"	22212	protein-coding gene	gene with protein product			"KIAA1277"	KIAA1277			Standard	NM_015689		Approved	FAM31D	uc010lnj.3	Q9ULE3	OTTHUMG00000157411	ENST00000275884.6:c.827C>T	7.37:g.140301371G>A	ENSP00000275884:p.Ala276Val					DENND2A_ENST00000537639.1_Missense_Mutation_p.A276V|DENND2A_ENST00000496613.1_Missense_Mutation_p.A276V|DENND2A_ENST00000492720.1_Missense_Mutation_p.A276V	p.A276V			Q9ULE3	DEN2A_HUMAN			2	1244	-	Melanoma(164;0.00956)		276					C9JUI3|Q1RMD5|Q86XY0	Missense_Mutation	SNP	ENST00000275884.6	37	c.827C>T	CCDS43659.1	.	.	.	.	.	.	.	.	.	.	G	12.48	1.950901	0.34471	.	.	ENSG00000146966	ENST00000275884;ENST00000537639;ENST00000496613;ENST00000492720	T;T;T;T	0.10099	3.61;3.61;3.61;2.91	4.85	3.83	0.44106	.	1.035520	0.07631	N	0.928591	T	0.09730	0.0239	N	0.22421	0.69	0.29365	N	0.86438	B;B	0.32283	0.362;0.037	B;B	0.31869	0.137;0.028	T	0.26985	-1.0087	10	0.54805	T	0.06	-3.1772	10.5809	0.45255	0.0:0.0:0.2762:0.7238	.	276;276	Q9ULE3-2;Q9ULE3	.;DEN2A_HUMAN	V	276	ENSP00000275884:A276V;ENSP00000442245:A276V;ENSP00000419654:A276V;ENSP00000419464:A276V	ENSP00000275884:A276V	A	-	2	0	DENND2A	139947840	0.995000	0.38212	0.360000	0.25837	0.386000	0.30323	3.235000	0.51328	1.084000	0.41184	0.462000	0.41574	GCC		0.582	DENND2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348742.1	NM_015689		5	386	0	0	0	1	0	5	386					A	140301371	G	A	140301371	3	1	16	1	0	0	0	0	1	0	0	0	4429	1203	42	3	2274	3	DENND2A	7	140301371	Missense_Mutation	SNP	G	TCGA-CH-5741-01A-11D-1576-08	43647674	140301371	18837292	23	653											
RGS20	8601	broad.mit.edu	37	chr8	54791832	54791832	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccccagtccttcccgcctgcAcagctcccagactcgcccgc	5	6	7	23	3	0	1	0	0	0	1	4	1	3	1	7	0	2	2	7	0	0	1			TCGA-CH-5741-01A-11D-1576-08	TCGA-CH-5741-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1be2ab-1f84-46dc-b166-4d703d0e8ffa	3b14c841-4ca0-49a9-b938-de2ebbea8bdf	g.chr8:54791832A>T	ENST00000297313.3	+	2	272	c.180A>T	c.(178-180)gcA>gcT	p.A60A	RGS20_ENST00000344277.6_Intron|RGS20_ENST00000522225.1_5'Flank|RP11-1070A24.2_ENST00000606037.1_RNA|RGS20_ENST00000276500.4_5'Flank	NM_170587.2	NP_733466.1	O76081	RGS20_HUMAN	regulator of G-protein signaling 20	60					positive regulation of GTPase activity (GO:0043547)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)	p.A60A(1)		breast(2)|endometrium(1)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(7;1.37e-06)|Epithelial(17;0.000126)|all cancers(17;0.0009)			TCCCGCCTGCACAGCTCCCAG	0.597																																						ENST00000297313.3																			1	Substitution - coding silent(1)	p.A60A(1)	prostate(1)	breast(2)|endometrium(1)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21						c.(178-180)gcA>gcT		regulator of G-protein signaling 20							93	116	108					8																	54791832		2203	4300	6503	SO:0001819	synonymous_variant	8601				negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|nucleus|plasma membrane	GTPase activator activity|protein binding|signal transducer activity	g.chr8:54791832A>T	AF074979	CCDS6155.1, CCDS6156.1, CCDS69482.1	8q11.23	2008-07-25	2007-08-14		ENSG00000147509	ENSG00000147509		"Regulators of G-protein signaling"	14600	protein-coding gene	gene with protein product		607193	"regulator of G-protein signalling 20"			9748279, 9748280	Standard	NM_003702		Approved	RGSZ1, ZGAP1	uc003xrp.3	O76081	OTTHUMG00000164750	ENST00000297313.3:c.180A>T	8.37:g.54791832A>T						RGS20_ENST00000344277.6_Intron	p.A60A	NM_170587.2	NP_733466.1	O76081	RGS20_HUMAN	OV - Ovarian serous cystadenocarcinoma(7;1.37e-06)|Epithelial(17;0.000126)|all cancers(17;0.0009)		2	272	+			60					Q96BG9	Silent	SNP	ENST00000297313.3	37	c.180A>T	CCDS6155.1																																																																																				0.597	RGS20-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000380058.1			88	166	0	0	0	1	0	88	166					T	54791832	A	T	54791832	2	4	16	1	0	0	0	0	0	0	0	1	13303	146	6	5		5	RGS20	8	54791832	Silent	SNP	A	TCGA-CH-5741-01A-11D-1576-08		54791832	91572190	24	654											
SULF1	23213	broad.mit.edu	37	chr8	70498706	70498706	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	taattacactgtttgtcgcaAtggcatcaaagaaaagcatg	15	11	8	7	1	1	1	1	0	0	1	2	1	1	1	0	1	2	4	0	1	6	3			TCGA-CH-5741-01A-11D-1576-08	TCGA-CH-5741-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1be2ab-1f84-46dc-b166-4d703d0e8ffa	3b14c841-4ca0-49a9-b938-de2ebbea8bdf	g.chr8:70498706A>G	ENST00000260128.4	+	7	1244	c.527A>G	c.(526-528)aAt>aGt	p.N176S	SULF1_ENST00000419716.3_Missense_Mutation_p.N176S|SULF1_ENST00000402687.4_Missense_Mutation_p.N176S|SULF1_ENST00000458141.2_Missense_Mutation_p.N176S	NM_015170.2	NP_055985.2	Q8IWU6	SULF1_HUMAN	sulfatase 1	176					apoptotic process (GO:0006915)|bone development (GO:0060348)|cartilage development (GO:0051216)|chondrocyte development (GO:0002063)|embryonic skeletal system development (GO:0048706)|esophagus smooth muscle contraction (GO:0014846)|glial cell-derived neurotrophic factor receptor signaling pathway (GO:0035860)|glomerular basement membrane development (GO:0032836)|glomerular filtration (GO:0003094)|heparan sulfate proteoglycan metabolic process (GO:0030201)|innervation (GO:0060384)|kidney development (GO:0001822)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell migration (GO:0030336)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|negative regulation of prostatic bud formation (GO:0060686)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of Wnt signaling pathway (GO:0030177)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	arylsulfatase activity (GO:0004065)|calcium ion binding (GO:0005509)|N-acetylglucosamine-6-sulfatase activity (GO:0008449)	p.N176S(1)		breast(2)|central_nervous_system(3)|endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	Breast(64;0.0654)		Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)			GTTTGTCGCAATGGCATCAAA	0.388																																						ENST00000260128.4																			1	Substitution - Missense(1)	p.N176S(1)	prostate(1)	breast(2)|central_nervous_system(3)|endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	52						c.(526-528)aAt>aGt		sulfatase 1							119	125	123					8																	70498706		2203	4300	6503	SO:0001583	missense	23213				apoptosis|bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding	g.chr8:70498706A>G	AB029000	CCDS6204.1	8q13.2	2014-09-11			ENSG00000137573	ENSG00000137573			20391	protein-coding gene	gene with protein product		610012				12368295	Standard	NM_015170		Approved	KIAA1077, SULF-1	uc003xyd.2	Q8IWU6	OTTHUMG00000164466	ENST00000260128.4:c.527A>G	8.37:g.70498706A>G	ENSP00000260128:p.Asn176Ser					SULF1_ENST00000419716.3_Missense_Mutation_p.N176S|SULF1_ENST00000458141.2_Missense_Mutation_p.N176S|SULF1_ENST00000402687.4_Missense_Mutation_p.N176S	p.N176S	NM_015170.2	NP_055985.2	Q8IWU6	SULF1_HUMAN	Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)		7	1244	+	Breast(64;0.0654)		176					Q86YV8|Q8NCA2|Q9UPS5	Missense_Mutation	SNP	ENST00000260128.4	37	c.527A>G	CCDS6204.1	.	.	.	.	.	.	.	.	.	.	A	27.7	4.853020	0.91355	.	.	ENSG00000137573	ENST00000458141;ENST00000260128;ENST00000402687;ENST00000419716	D;D;D;D	0.98474	-4.95;-4.95;-4.95;-4.95	5.86	5.86	0.93980	Alkaline phosphatase-like, alpha/beta/alpha (1);Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.000000	0.85682	D	0.000000	D	0.98667	0.9553	M	0.88181	2.935	0.80722	D	1	B	0.25441	0.126	B	0.42422	0.387	D	0.98773	1.0729	10	0.87932	D	0	.	16.2513	0.82489	1.0:0.0:0.0:0.0	.	176	Q8IWU6	SULF1_HUMAN	S	176	ENSP00000403040:N176S;ENSP00000260128:N176S;ENSP00000385704:N176S;ENSP00000390315:N176S	ENSP00000260128:N176S	N	+	2	0	SULF1	70661260	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	9.310000	0.96267	2.239000	0.73571	0.528000	0.53228	AAT		0.388	SULF1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378885.2	NM_015170		16	293	0	0	0	1	0	16	293					G	70498706	A	G	70498706	3	3	16	1	0	0	0	0	1	0	0	0	15369	101	4	4	537	4	SULF1	8	70498706	Missense_Mutation	SNP	A	TCGA-CH-5741-01A-11D-1576-08	15706874	70498706	75865316	25	655											
RBM12B	389677	broad.mit.edu	37	chr8	94746488	94746488	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggaaatgctcctggggtgaCtgcctgaagtcctcctcagg	7	9	13	12	1	1	2	1	2	0	0	4	3	4	3	4	4	2	1	4	4	2	0			TCGA-CH-5741-01A-11D-1576-08	TCGA-CH-5741-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1be2ab-1f84-46dc-b166-4d703d0e8ffa	3b14c841-4ca0-49a9-b938-de2ebbea8bdf	g.chr8:94746488C>G	ENST00000399300.2	-	3	2364	c.2151G>C	c.(2149-2151)caG>caC	p.Q717H	RBM12B_ENST00000520961.1_Intron|RP11-10N23.4_ENST00000517998.1_RNA|RBM12B_ENST00000517700.1_Intron	NM_203390.2	NP_976324.2	Q8IXT5	RB12B_HUMAN	RNA binding motif protein 12B	717							nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.Q717H(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	30	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.0168)			CCTGGGGTGACTGCCTGAAGT	0.627																																						ENST00000399300.2																			1	Substitution - Missense(1)	p.Q717H(1)	prostate(1)	breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	30						c.(2149-2151)caG>caC		RNA binding motif protein 12B							98	104	102					8																	94746488		1886	4099	5985	SO:0001583	missense	389677						nucleotide binding|RNA binding	g.chr8:94746488C>G		CCDS43755.1	8q22	2014-05-20			ENSG00000183808	ENSG00000183808		"RNA binding motif (RRM) containing"	32310	protein-coding gene	gene with protein product							Standard	NM_203390		Approved		uc003yfz.3	Q8IXT5	OTTHUMG00000164317	ENST00000399300.2:c.2151G>C	8.37:g.94746488C>G	ENSP00000382239:p.Gln717His					RBM12B_ENST00000520961.1_Intron|RBM12B_ENST00000517700.1_Intron	p.Q717H	NM_203390.2	NP_976324.2	Q8IXT5	RB12B_HUMAN	BRCA - Breast invasive adenocarcinoma(8;0.0168)		3	2364	-	Breast(36;4.14e-07)		717					A8MYB5	Missense_Mutation	SNP	ENST00000399300.2	37	c.2151G>C	CCDS43755.1	.	.	.	.	.	.	.	.	.	.	C	13.46	2.244827	0.39697	.	.	ENSG00000183808	ENST00000399300	T	0.07114	3.22	4.66	-7.02	0.01589	.	.	.	.	.	T	0.02888	0.0086	N	0.08118	0	0.18873	N	0.999982	B	0.02656	0.0	B	0.01281	0.0	T	0.41858	-0.9485	9	0.33940	T	0.23	.	2.4121	0.04427	0.4779:0.2201:0.1677:0.1343	.	717	Q8IXT5	RB12B_HUMAN	H	717	ENSP00000382239:Q717H	ENSP00000382239:Q717H	Q	-	3	2	RBM12B	94815664	0.000000	0.05858	0.000000	0.03702	0.710000	0.40934	-4.908000	0.00171	-1.540000	0.01730	-0.309000	0.09137	CAG		0.627	RBM12B-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383603.1	NM_203390		145	235	0	0	0	1	0	145	235					G	94746488	C	G	94746488	3	3	16	1	0	0	0	0	1	0	0	0	13114	564	20	5	858	5	RBM12B	8	94746488	Missense_Mutation	SNP	C	TCGA-CH-5741-01A-11D-1576-08	24247782	94746488	51617534	26	656											
ANXA13	312	broad.mit.edu	37	chr8	124705463	124705463	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ataggcttgaaaggtggctcGtaactgcttgtagctcctct	8	13	11	9	1	1	1	0	1	1	0	3	1	2	1	1	3	3	6	1	3	4	5			TCGA-CH-5741-01A-11D-1576-08	TCGA-CH-5741-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1be2ab-1f84-46dc-b166-4d703d0e8ffa	3b14c841-4ca0-49a9-b938-de2ebbea8bdf	g.chr8:124705463G>A	ENST00000419625.1	-	8	688	c.616C>T	c.(616-618)Cga>Tga	p.R206*	ANXA13_ENST00000262219.6_Nonsense_Mutation_p.R247*	NM_004306.2	NP_004297.2	P27216	ANX13_HUMAN	annexin A13	206					cell differentiation (GO:0030154)|negative regulation of Golgi to plasma membrane protein transport (GO:0042997)|positive regulation of Golgi to plasma membrane protein transport (GO:0042998)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|exocytic vesicle (GO:0070382)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|phosphatidylglycerol binding (GO:1901611)|phosphatidylserine binding (GO:0001786)	p.R247*(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(2)	25	Lung NSC(37;2.06e-11)|Ovarian(258;0.00579)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00288)			AAGGTGGCTCGTAACTGCTTG	0.448																																						ENST00000262219.6																			1	Substitution - Nonsense(1)	p.R247*(1)	prostate(1)	breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(2)	25						c.(739-741)Cga>Tga		annexin A13							190	197	195					8																	124705463		2203	4300	6503	SO:0001587	stop_gained	312				cell differentiation	plasma membrane	calcium ion binding|calcium-dependent phospholipid binding	g.chr8:124705463G>A	Z11502	CCDS34939.1, CCDS47917.1	8q24.13	2005-11-09			ENSG00000104537	ENSG00000104537		"Annexins"	536	protein-coding gene	gene with protein product		602573		ANX13		9503022	Standard	NM_004306		Approved		uc003yqt.3	P27216	OTTHUMG00000164987	ENST00000419625.1:c.616C>T	8.37:g.124705463G>A	ENSP00000390809:p.Arg206*					ANXA13_ENST00000419625.1_Nonsense_Mutation_p.R206*	p.R247*	NM_001003954.1	NP_001003954.1	P27216	ANX13_HUMAN	STAD - Stomach adenocarcinoma(47;0.00288)		9	806	-	Lung NSC(37;2.06e-11)|Ovarian(258;0.00579)|all_neural(195;0.0741)		206					Q9BQR5	Nonsense_Mutation	SNP	ENST00000419625.1	37	c.739C>T	CCDS47917.1	.	.	.	.	.	.	.	.	.	.	G	17.39	3.376868	0.61735	.	.	ENSG00000104537	ENST00000262219;ENST00000419625	.	.	.	5.41	2.14	0.27477	.	0.621672	0.17778	N	0.162351	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.8481	0.57842	0.0:0.0:0.3504:0.6495	.	.	.	.	X	247;206	.	ENSP00000262219:R247X	R	-	1	2	ANXA13	124774644	0.875000	0.30112	0.045000	0.18777	0.261000	0.26267	2.735000	0.47377	0.764000	0.33197	-0.865000	0.03005	CGA		0.448	ANXA13-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381308.1	NM_004306		9	404	0	0	0	1	0	9	404					A	124705463	G	A	124705463	4	1	16	1	0	0	0	0	0	1	0	0	717	1153	40	1	350	1	ANXA13	8	124705463	Nonsense_Mutation	SNP	G	TCGA-CH-5741-01A-11D-1576-08	29958975	124705463	21658559	27	657											
CYC1	1537	broad.mit.edu	37	chr8	145150822	145150822	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atgctggcggcagggggtgcGgggctggccatggctctgca	4	7	20	10	2	1	0	0	0	1	0	1	0	1	0	1	8	3	5	1	8	0	0			TCGA-CH-5741-01A-11D-1576-08	TCGA-CH-5741-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1be2ab-1f84-46dc-b166-4d703d0e8ffa	3b14c841-4ca0-49a9-b938-de2ebbea8bdf	g.chr8:145150822G>A	ENST00000318911.4	+	2	289	c.216G>A	c.(214-216)gcG>gcA	p.A72A		NM_001916.3	NP_001907	P08574	CY1_HUMAN	cytochrome c-1	72					cellular metabolic process (GO:0044237)|respiratory electron transport chain (GO:0022904)|response to glucagon (GO:0033762)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|respiratory chain (GO:0070469)	electron transporter, transferring electrons from CoQH2-cytochrome c reductase complex and cytochrome c oxidase complex activity (GO:0045155)|heme binding (GO:0020037)|iron ion binding (GO:0005506)	p.A72A(2)		endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(2)	15	all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;8.71e-40)|all cancers(56;3e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CAGGGGGTGCGGGGCTGGCCA	0.652											OREG0019052	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000318911.4																			2	Substitution - coding silent(2)	p.A72A(2)	prostate(2)	endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(2)	15						c.(214-216)gcG>gcA		cytochrome c-1							56	58	58					8																	145150822		2203	4298	6501	SO:0001819	synonymous_variant	1537				respiratory electron transport chain|transport	cell junction|integral to membrane|mitochondrial inner membrane|respiratory chain	electron transporter, transferring electrons from CoQH2-cytochrome c reductase complex and cytochrome c oxidase complex activity|heme binding	g.chr8:145150822G>A	BC001006	CCDS6415.1	8q24	2011-07-04			ENSG00000179091	ENSG00000179091		"Mitochondrial respiratory chain complex / Complex III"	2579	protein-coding gene	gene with protein product		123980					Standard	NM_001916		Approved	UQCR4	uc003zaz.4	P08574	OTTHUMG00000165242	ENST00000318911.4:c.216G>A	8.37:g.145150822G>A			OREG0019052	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1692		p.A72A	NM_001916.3	NP_001907.2	P08574	CY1_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;8.71e-40)|all cancers(56;3e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		2	289	+	all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		72					Q5U062|Q6FHS7	Silent	SNP	ENST00000318911.4	37	c.216G>A	CCDS6415.1																																																																																				0.652	CYC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382895.1	NM_001916		3	67	0	0	0	1	0	3	67					A	145150822	G	A	145150822	2	1	16	1	0	0	0	0	0	0	0	1	4135	1103	39	2		2	CYC1	8	145150822	Silent	SNP	G	TCGA-CH-5741-01A-11D-1576-08	20445359	145150822	1213200	28	658											
TRAF2	7186	broad.mit.edu	37	chr9	139815644	139815644	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccaggaagctgtggctggccGcatacccgccatcttctccc	6	8	10	17	2	2	0	0	0	2	0	3	1	2	1	5	3	2	3	5	3	2	2			TCGA-CH-5741-01A-11D-1576-08	TCGA-CH-5741-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1be2ab-1f84-46dc-b166-4d703d0e8ffa	3b14c841-4ca0-49a9-b938-de2ebbea8bdf	g.chr9:139815644G>A	ENST00000247668.2	+	9	1167	c.1115G>A	c.(1114-1116)cGc>cAc	p.R372H	TRAF2_ENST00000536468.1_Missense_Mutation_p.R372H|TRAF2_ENST00000359662.3_Missense_Mutation_p.R424H	NM_021138.3	NP_066961.2	Q12933	TRAF2_HUMAN	TNF receptor-associated factor 2	372	MATH. {ECO:0000255|PROSITE- ProRule:PRU00129}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of NF-kappaB-inducing kinase activity (GO:0007250)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cellular protein complex assembly (GO:0043623)|cellular response to nitric oxide (GO:0071732)|innate immune response (GO:0045087)|negative regulation of glial cell apoptotic process (GO:0034351)|negative regulation of neuron death (GO:1901215)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein homodimerization activity (GO:0090073)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell cytokine production (GO:0002726)|programmed necrotic cell death (GO:0097300)|protein autoubiquitination (GO:0051865)|protein catabolic process (GO:0030163)|protein complex assembly (GO:0006461)|protein heterooligomerization (GO:0051291)|protein homotrimerization (GO:0070207)|protein K63-linked ubiquitination (GO:0070534)|regulation of apoptotic process (GO:0042981)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|regulation of immunoglobulin secretion (GO:0051023)|signal transduction (GO:0007165)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	CD40 receptor complex (GO:0035631)|cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|membrane raft (GO:0045121)|ubiquitin ligase complex (GO:0000151)	CD40 receptor binding (GO:0005174)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|ligase activity (GO:0016874)|protein phosphatase binding (GO:0019903)|signal transducer activity (GO:0004871)|sphingolipid binding (GO:0046625)|thioesterase binding (GO:0031996)|tumor necrosis factor receptor binding (GO:0005164)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.229)	OV - Ovarian serous cystadenocarcinoma(145;4.48e-06)|Epithelial(140;9.55e-06)		GTGGCTGGCCGCATACCCGCC	0.592																																						ENST00000359662.3																			0				breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						c.(1270-1272)cGc>cAc		TNF receptor-associated factor 2							58	55	56					9																	139815644		2203	4300	6503	SO:0001583	missense	7186				activation of caspase activity|activation of NF-kappaB-inducing kinase activity|activation of pro-apoptotic gene products|cellular protein complex assembly|induction of apoptosis by extracellular signals|positive regulation of interleukin-2 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of T cell cytokine production|protein autoubiquitination|protein homotrimerization|protein K63-linked ubiquitination|tumor necrosis factor-mediated signaling pathway	CD40 receptor complex|cytosol|internal side of plasma membrane	CD40 receptor binding|enzyme binding|protein binding|signal transducer activity|sphingolipid binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr9:139815644G>A	U12597	CCDS7013.1	9q34	2013-01-09			ENSG00000127191	ENSG00000127191		"RING-type (C3HC4) zinc fingers"	12032	protein-coding gene	gene with protein product		601895				7639698	Standard	NM_021138		Approved	TRAP3	uc004cjv.3	Q12933	OTTHUMG00000020952	ENST00000247668.2:c.1115G>A	9.37:g.139815644G>A	ENSP00000247668:p.Arg372His					TRAF2_ENST00000247668.2_Missense_Mutation_p.R372H|TRAF2_ENST00000536468.1_Missense_Mutation_p.R372H	p.R424H			Q12933	TRAF2_HUMAN	STAD - Stomach adenocarcinoma(284;0.229)	OV - Ovarian serous cystadenocarcinoma(145;4.48e-06)|Epithelial(140;9.55e-06)	9	1316	+	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0511)	372			MATH.		A8K107|B4DPJ7|Q7Z337|Q96NT2	Missense_Mutation	SNP	ENST00000247668.2	37	c.1271G>A	CCDS7013.1	.	.	.	.	.	.	.	.	.	.	G	18.67	3.672923	0.67928	.	.	ENSG00000127191	ENST00000536468;ENST00000432785;ENST00000247668;ENST00000359662;ENST00000371645	T;T;T	0.37915	1.47;1.47;1.17	4.23	4.23	0.50019	TRAF-type (1);TRAF-like (1);MATH (2);	0.000000	0.85682	D	0.000000	T	0.56396	0.1982	L	0.59912	1.85	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.999	D;D;P	0.91635	0.999;0.999;0.828	T	0.58115	-0.7693	10	0.46703	T	0.11	-47.377	16.7645	0.85521	0.0:0.0:1.0:0.0	.	361;347;372	Q12933-3;Q12933-4;Q12933	.;.;TRAF2_HUMAN	H	372;371;372;424;293	ENSP00000446414:R372H;ENSP00000247668:R372H;ENSP00000352685:R424H	ENSP00000247668:R372H	R	+	2	0	TRAF2	138935465	1.000000	0.71417	1.000000	0.80357	0.619000	0.37552	9.108000	0.94275	2.162000	0.67917	0.491000	0.48974	CGC		0.592	TRAF2-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055166.1	NM_021138		4	67	0	0	0	1	0	4	67					A	139815644	G	A	139815644	3	1	16	1	0	0	0	0	1	0	0	0	16435	1087	38	1	1145	1	TRAF2	9	139815644	Missense_Mutation	SNP	G	TCGA-CH-5741-01A-11D-1576-08		139815644	1397787	29	659											
ANK3	288	broad.mit.edu	37	chr10	61827718	61827718	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caactaagtcccaggtgatcGgctactattgccatcctgat	10	11	8	12	1	0	2	0	2	0	0	3	2	2	2	3	2	3	1	3	2	4	4	rs138073935		TCGA-CH-5741-01A-11D-1576-08	TCGA-CH-5741-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1be2ab-1f84-46dc-b166-4d703d0e8ffa	3b14c841-4ca0-49a9-b938-de2ebbea8bdf	g.chr10:61827718G>A	ENST00000280772.2	-	38	12485	c.12294C>T	c.(12292-12294)gcC>gcT	p.A4098A	ANK3_ENST00000355288.2_Silent_p.A619A|ANK3_ENST00000373827.2_Silent_p.A1479A|ANK3_ENST00000503366.1_Silent_p.A1486A	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	4098	Death. {ECO:0000255|PROSITE- ProRule:PRU00064}.				axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization (GO:0045184)|Golgi to plasma membrane protein transport (GO:0043001)|maintenance of protein location in plasma membrane (GO:0072660)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|neuromuscular junction development (GO:0007528)|neuronal action potential (GO:0019228)|plasma membrane organization (GO:0007009)|positive regulation of cell communication by electrical coupling (GO:0010650)|positive regulation of gene expression (GO:0010628)|positive regulation of homotypic cell-cell adhesion (GO:0034112)|positive regulation of membrane depolarization during cardiac muscle cell action potential (GO:1900827)|positive regulation of membrane potential (GO:0045838)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein localization to plasma membrane (GO:0072659)|protein targeting to plasma membrane (GO:0072661)|regulation of potassium ion transport (GO:0043266)|signal transduction (GO:0007165)	axon initial segment (GO:0043194)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|costamere (GO:0043034)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|lysosome (GO:0005764)|neuromuscular junction (GO:0031594)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|T-tubule (GO:0030315)|Z disc (GO:0030018)	cadherin binding (GO:0045296)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						CCAGGTGATCGGCTACTATTG	0.373																																						ENST00000280772.1																			0				NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						c.(12292-12294)gcC>gcT		ankyrin 3, node of Ranvier (ankyrin G)		G	,,,	1,4405	2.1+/-5.4	0,1,2202	166	154	158		1857,4437,4458,12294	0.5	1	10	dbSNP_134	158	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	ANK3	NM_001149.3,NM_001204403.1,NM_001204404.1,NM_020987.3	,,,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,,,	619/1002,1479/1862,1486/1869,4098/4378	61827718	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	288				establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding	g.chr10:61827718G>A	U13616	CCDS7258.1, CCDS7259.1, CCDS55711.1, CCDS55712.1	10q21	2013-01-10			ENSG00000151150	ENSG00000151150		"Ankyrin repeat domain containing"	494	protein-coding gene	gene with protein product	"ankyrin-3, node of Ranvier", "ankyrin-G"	600465				7665168	Standard	NM_020987		Approved		uc001jky.3	Q12955	OTTHUMG00000018288	ENST00000280772.2:c.12294C>T	10.37:g.61827718G>A						ANK3_ENST00000373827.2_Silent_p.A1479A|ANK3_ENST00000355288.2_Silent_p.A619A|ANK3_ENST00000503366.1_Silent_p.A1486A	p.A4098A	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN			38	12485	-			4098			Death.		B1AQT2|B4DIL1|E9PE32|Q13484|Q5CZH9|Q5VXD5|Q7Z3G4|Q9H0P5	Silent	SNP	ENST00000280772.2	37	c.12294C>T	CCDS7258.1	.	.	.	.	.	.	.	.	.	.	G	9.938	1.216593	0.22373	2.27E-4	0.0	ENSG00000151150	ENST00000511043	.	.	.	5.54	0.545	0.17190	.	.	.	.	.	T	0.51278	0.1665	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.37957	-0.9683	4	.	.	.	.	5.5912	0.17301	0.5017:0.1446:0.3538:0.0	.	.	.	.	L	45	.	.	P	-	2	0	ANK3	61497724	0.484000	0.25964	1.000000	0.80357	0.998000	0.95712	-0.195000	0.09546	0.177000	0.19895	0.591000	0.81541	CCG		0.373	ANK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048201.4	NM_020987		4	304	0	0	0	1	0	4	304					A	61827718	G	A	61827718	2	1	16	1	0	0	0	0	0	0	0	1	622	1103	39	2		2	ANK3	10	61827718	Silent	SNP	G	TCGA-CH-5741-01A-11D-1576-08		61827718	73707029	30	660											
HSPA12A	259217	broad.mit.edu	37	chr10	118441315	118441315	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acgctaccttcctccagctcGgaccagatttctcctatgac	8	11	6	16	2	1	2	0	1	1	1	5	3	3	3	5	1	2	2	5	1	2	4			TCGA-CH-5741-01A-11D-1576-08	TCGA-CH-5741-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1be2ab-1f84-46dc-b166-4d703d0e8ffa	3b14c841-4ca0-49a9-b938-de2ebbea8bdf	g.chr10:118441315G>T	ENST00000369209.3	-	8	1013	c.909C>A	c.(907-909)tcC>tcA	p.S303S		NM_025015.2	NP_079291.2	O43301	HS12A_HUMAN	heat shock 70kDa protein 12A	303						extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)	p.S924S(2)		breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	32				all cancers(201;0.0158)		CCTCCAGCTCGGACCAGATTT	0.478											OREG0020558	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000369209.3																			2	Substitution - coding silent(2)	p.S924S(2)	large_intestine(1)|prostate(1)	breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	32						c.(907-909)tcC>tcA		heat shock 70kDa protein 12A							98	97	97					10																	118441315		1944	4146	6090	SO:0001819	synonymous_variant	259217						ATP binding	g.chr10:118441315G>T	AB007877	CCDS41569.1	10q25.3	2011-09-02	2002-08-29		ENSG00000165868	ENSG00000165868		"Heat shock proteins / HSP70"	19022	protein-coding gene	gene with protein product		610701	"heat shock 70kD protein 12A"			12552099	Standard	NM_025015		Approved	FLJ13874, KIAA0417	uc001lct.3	O43301	OTTHUMG00000019107	ENST00000369209.3:c.909C>A	10.37:g.118441315G>T			OREG0020558	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1488		p.S303S	NM_025015.2	NP_079291.2	O43301	HS12A_HUMAN		all cancers(201;0.0158)	8	1013	-			303						Silent	SNP	ENST00000369209.3	37	c.909C>A	CCDS41569.1																																																																																				0.478	HSPA12A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050530.1	NM_025015		3	73	1	0	1	1	1	3	73					T	118441315	G	T	118441315	2	4	16	1	0	0	0	0	0	0	0	1	7404	1103	39	5		5	HSPA12A	10	118441315	Silent	SNP	G	TCGA-CH-5741-01A-11D-1576-08	56613597	118441315	17093432	31	661											
OR52E4	390081	broad.mit.edu	37	chr11	5905957	5905957	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	accaataaaaccatcagtatCctagcttctgtggttgttgg	11	13	8	9	0	2	0	1	0	1	0	3	0	3	0	3	2	2	4	3	2	5	6			TCGA-CH-5741-01A-11D-1576-08	TCGA-CH-5741-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1be2ab-1f84-46dc-b166-4d703d0e8ffa	3b14c841-4ca0-49a9-b938-de2ebbea8bdf	g.chr11:5905957C>T	ENST00000316987.2	+	1	457	c.435C>T	c.(433-435)atC>atT	p.I145I		NM_001005165.1	NP_001005165.1	Q8NGH9	O52E4_HUMAN	olfactory receptor, family 52, subfamily E, member 4	145						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.I145I(1)		autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(2)|prostate(1)|skin(2)	30		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.24e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CCATCAGTATCCTAGCTTCTG	0.453																																						ENST00000316987.2																			1	Substitution - coding silent(1)	p.I145I(1)	prostate(1)	autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(2)|prostate(1)|skin(2)	30						c.(433-435)atC>atT		olfactory receptor, family 52, subfamily E, member 4							143	126	131					11																	5905957		2201	4296	6497	SO:0001819	synonymous_variant	390081				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5905957C>T	AB065817	CCDS31401.1	11p15.4	2012-08-09			ENSG00000180974	ENSG00000180974		"GPCR / Class A : Olfactory receptors"	15213	protein-coding gene	gene with protein product							Standard	NM_001005165		Approved		uc010qzs.2	Q8NGH9	OTTHUMG00000168804	ENST00000316987.2:c.435C>T	11.37:g.5905957C>T							p.I145I	NM_001005165.1	NP_001005165.1	Q8NGH9	O52E4_HUMAN		Epithelial(150;1.24e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	457	+		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)	145					Q6IFG0	Silent	SNP	ENST00000316987.2	37	c.435C>T	CCDS31401.1																																																																																				0.453	OR52E4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401146.1	NM_001005165		6	256	0	0	0	1	0	6	256					T	5905957	C	T	5905957	2	4	16	1	0	0	0	0	0	0	0	1	11116	845	30	3		3	OR52E4	11	5905957	Silent	SNP	C	TCGA-CH-5741-01A-11D-1576-08		5905957	129100559	32	662											
DNAJC4	3338	broad.mit.edu	37	chr11	64000258	64000258	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cccagttgaggcagcagcaaCacaaacaaaacaaacaagtg	19	3	8	11	0	0	1	0	1	0	0	0	1	0	1	1	1	6	4	1	1	6	1			TCGA-CH-5741-01A-11D-1576-08	TCGA-CH-5741-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1be2ab-1f84-46dc-b166-4d703d0e8ffa	3b14c841-4ca0-49a9-b938-de2ebbea8bdf	g.chr11:64000258C>A	ENST00000321685.3	+	5	913	c.448C>A	c.(448-450)Cac>Aac	p.H150N	RP11-783K16.14_ENST00000539963.1_RNA|RP11-783K16.14_ENST00000534988.1_RNA|VEGFB_ENST00000309422.2_5'Flank|DNAJC4_ENST00000321460.5_Missense_Mutation_p.H151N|VEGFB_ENST00000426086.2_5'Flank|DNAJC4_ENST00000355040.4_Intron	NM_005528.3	NP_005519.2	Q9NNZ3	DNJC4_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 4	150					protein folding (GO:0006457)|response to unfolded protein (GO:0006986)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrion (GO:0005739)	unfolded protein binding (GO:0051082)	p.H150N(1)|p.H109N(1)		endometrium(1)|lung(1)|prostate(1)	3						GCAGCAGCAACACAAACAAAA	0.607																																						ENST00000321685.3																			2	Substitution - Missense(2)	p.H150N(1)|p.H109N(1)	prostate(2)	endometrium(1)|lung(1)|prostate(1)	3						c.(448-450)Cac>Aac		DnaJ (Hsp40) homolog, subfamily C, member 4							53	58	56					11																	64000258		2085	4211	6296	SO:0001583	missense	3338				protein folding|response to unfolded protein	integral to membrane|membrane fraction	heat shock protein binding|unfolded protein binding	g.chr11:64000258C>A	AF012106	CCDS41666.1	11q13	2011-09-02			ENSG00000110011	ENSG00000110011		"Heat shock proteins / DNAJ (HSP40)"	5271	protein-coding gene	gene with protein product		604189		HSPF2		9473517, 11147971	Standard	NM_005528		Approved	MCG18	uc001nys.3	Q9NNZ3	OTTHUMG00000167792	ENST00000321685.3:c.448C>A	11.37:g.64000258C>A	ENSP00000396896:p.His150Asn					RP11-783K16.14_ENST00000539963.1_RNA|DNAJC4_ENST00000355040.4_Intron|DNAJC4_ENST00000321460.5_Missense_Mutation_p.H151N|RP11-783K16.14_ENST00000534988.1_RNA	p.H150N	NM_005528.3	NP_005519.2	Q9NNZ3	DNJC4_HUMAN			5	913	+			150					O14716	Missense_Mutation	SNP	ENST00000321685.3	37	c.448C>A	CCDS41666.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	10.71|10.71	1.426852|1.426852	0.25726|0.25726	.|.	.|.	ENSG00000110011|ENSG00000110011	ENST00000321685;ENST00000321460|ENST00000535246	T;T|.	0.24350|.	1.86;1.87|.	5.23|5.23	2.37|2.37	0.29283|0.29283	.|.	0.613652|.	0.16895|.	N|.	0.195173|.	T|T	0.37376|0.37376	0.1001|0.1001	L|L	0.43152|0.43152	1.355|1.355	0.09310|0.09310	N|N	1|1	P;P|.	0.43231|.	0.801;0.454|.	B;B|.	0.34180|.	0.177;0.104|.	T|T	0.23013|0.23013	-1.0200|-1.0200	10|5	0.48119|.	T|.	0.1|.	-3.3857|-3.3857	7.6849|7.6849	0.28534|0.28534	0.0:0.7334:0.0:0.2666|0.0:0.7334:0.0:0.2666	.|.	151;150|.	Q6PIN0;Q9NNZ3|.	.;DNJC4_HUMAN|.	N|K	150;151|87	ENSP00000396896:H150N;ENSP00000320548:H151N|.	ENSP00000320548:H151N|.	H|N	+|+	1|3	0|2	DNAJC4|DNAJC4	63756834|63756834	0.003000|0.003000	0.15002|0.15002	0.179000|0.179000	0.23059|0.23059	0.086000|0.086000	0.17979|0.17979	0.122000|0.122000	0.15687|0.15687	0.309000|0.309000	0.22966|0.22966	0.563000|0.563000	0.77884|0.77884	CAC|AAC		0.607	DNAJC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396305.1			3	107	1	0	0.115264	1	0.121175	3	107					A	64000258	C	A	64000258	3	1	16	1	0	0	0	0	1	0	0	0	4649	478	17	5	462	5	DNAJC4	11	64000258	Missense_Mutation	SNP	C	TCGA-CH-5741-01A-11D-1576-08	58094301	64000258	71006258	33	663											
CNTN5	53942	broad.mit.edu	37	chr11	99690380	99690380	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttccaaaaccagaccacgatAcagcagcccttcattaggaa	15	7	6	13	1	1	1	1	0	0	1	2	3	2	2	4	1	4	1	4	1	5	4			TCGA-CH-5741-01A-11D-1576-08	TCGA-CH-5741-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1be2ab-1f84-46dc-b166-4d703d0e8ffa	3b14c841-4ca0-49a9-b938-de2ebbea8bdf	g.chr11:99690380A>C	ENST00000524871.1	+	4	451	c.161A>C	c.(160-162)tAc>tCc	p.Y54S	CNTN5_ENST00000279463.3_Missense_Mutation_p.Y54S|CNTN5_ENST00000527185.1_Missense_Mutation_p.Y54S|CNTN5_ENST00000418526.2_Intron|CNTN5_ENST00000528682.1_Missense_Mutation_p.Y54S	NM_014361.3	NP_055176.1	O94779	CNTN5_HUMAN	contactin 5	54					cell adhesion (GO:0007155)|sensory perception of sound (GO:0007605)	anchored component of membrane (GO:0031225)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)		p.Y54S(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		AGACCACGATACAGCAGCCCT	0.428																																						ENST00000524871.1																			1	Substitution - Missense(1)	p.Y54S(1)	prostate(1)	NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81						c.(160-162)tAc>tCc		contactin 5							113	114	114					11																	99690380		1917	4142	6059	SO:0001583	missense	53942				cell adhesion	anchored to membrane|plasma membrane	protein binding	g.chr11:99690380A>C	AB013802	CCDS53696.1, CCDS53697.1, CCDS58168.1	11q22.1	2013-02-11			ENSG00000149972	ENSG00000149972		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	2175	protein-coding gene	gene with protein product		607219					Standard	NM_014361		Approved	NB-2, hNB-2	uc021qpb.1	O94779	OTTHUMG00000167579	ENST00000524871.1:c.161A>C	11.37:g.99690380A>C	ENSP00000435637:p.Tyr54Ser					CNTN5_ENST00000279463.3_Missense_Mutation_p.Y54S|CNTN5_ENST00000418526.2_Intron|CNTN5_ENST00000527185.1_Missense_Mutation_p.Y54S|CNTN5_ENST00000528682.1_Missense_Mutation_p.Y54S	p.Y54S	NM_014361.3	NP_055176.1	O94779	CNTN5_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)	4	451	+		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)	54					A1L4P0|B7ZM07|E9PKE8|O94780|Q49AF3	Missense_Mutation	SNP	ENST00000524871.1	37	c.161A>C	CCDS53696.1	.	.	.	.	.	.	.	.	.	.	A	6.409	0.443667	0.12164	.	.	ENSG00000149972	ENST00000527185;ENST00000528682;ENST00000524871;ENST00000279463	T;T;T;T	0.56776	0.44;0.51;0.51;0.51	5.06	-6.3	0.02007	.	0.669254	0.13978	N	0.349692	T	0.24736	0.0600	N	0.19112	0.55	0.09310	N	0.999999	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.08166	-1.0735	10	0.30078	T	0.28	.	2.4256	0.04459	0.2753:0.2734:0.0658:0.3856	.	54;54	E9PKE8;O94779	.;CNTN5_HUMAN	S	54	ENSP00000433575:Y54S;ENSP00000436185:Y54S;ENSP00000435637:Y54S;ENSP00000279463:Y54S	ENSP00000279463:Y54S	Y	+	2	0	CNTN5	99195590	0.833000	0.29383	0.096000	0.21009	0.283000	0.27025	0.204000	0.17335	-0.837000	0.04223	-0.344000	0.07964	TAC		0.428	CNTN5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395148.2	NM_014361		5	188	0	0	0	1	0	5	188					C	99690380	A	C	99690380	3	2	16	1	0	0	0	0	1	0	0	0	3644	391	14	5	167	5	CNTN5	11	99690380	Missense_Mutation	SNP	A	TCGA-CH-5741-01A-11D-1576-08	35690122	99690380	35316136	34	664											
C11orf70	85016	broad.mit.edu	37	chr11	101946634	101946634	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggaagactcagaaaaatatGaaatattcagccaaccagat	19	8	7	7	0	2	4	2	1	0	3	2	5	2	5	2	1	2	0	2	1	7	3	rs267602669		TCGA-CH-5741-01A-11D-1576-08	TCGA-CH-5741-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1be2ab-1f84-46dc-b166-4d703d0e8ffa	3b14c841-4ca0-49a9-b938-de2ebbea8bdf	g.chr11:101946634G>T	ENST00000434758.2	+	5	494	c.466G>T	c.(466-468)Gaa>Taa	p.E156*	C11orf70_ENST00000526781.1_Nonsense_Mutation_p.E156*|C11orf70_ENST00000534360.1_Nonstop_Mutation_p.*100L	NM_032930.2	NP_116319.2	Q9BRQ4	CK070_HUMAN	chromosome 11 open reading frame 70	156								p.E118*(1)		breast(1)|kidney(1)|lung(5)|ovary(1)|prostate(2)|skin(2)	12	all_epithelial(12;0.0137)	Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.0137)	Lung(13;0.245)	BRCA - Breast invasive adenocarcinoma(274;0.0335)		AGAAAAATATGAAATATTCAG	0.343																																						ENST00000434758.2																			1	Substitution - Nonsense(1)	p.E118*(1)	prostate(1)	breast(1)|kidney(1)|lung(5)|ovary(1)|prostate(2)|skin(2)	12						c.(466-468)Gaa>Taa		chromosome 11 open reading frame 70							114	113	113					11																	101946634		2203	4299	6502	SO:0001587	stop_gained	85016							g.chr11:101946634G>T	AK094851	CCDS8313.1, CCDS8313.2, CCDS53698.1	11q22.1	2012-05-31			ENSG00000137691	ENSG00000137691			28188	protein-coding gene	gene with protein product							Standard	NM_032930		Approved	MGC13040	uc001pgp.3	Q9BRQ4	OTTHUMG00000167320	ENST00000434758.2:c.466G>T	11.37:g.101946634G>T	ENSP00000414390:p.Glu156*					C11orf70_ENST00000526781.1_Nonsense_Mutation_p.E156*|C11orf70_ENST00000534360.1_Nonstop_Mutation_p.*100L	p.E156*	NM_032930.2	NP_116319.2	Q9BRQ4	CK070_HUMAN	Lung(13;0.245)	BRCA - Breast invasive adenocarcinoma(274;0.0335)	5	494	+	all_epithelial(12;0.0137)	Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.0137)	156					E9PJU1	Nonsense_Mutation	SNP	ENST00000434758.2	37	c.466G>T	CCDS8313.2	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	G|G|G	20.9|20.9|20.9	4.060982|4.060982|4.060982	0.76074|0.76074|0.76074	.|.|.	.|.|.	ENSG00000137691|ENSG00000137691|ENSG00000137691	ENST00000434758;ENST00000526781;ENST00000423732|ENST00000529204|ENST00000534360	.|.|.	.|.|.	.|.|.	5.55|5.55|5.55	5.55|5.55|5.55	0.83447|0.83447|0.83447	.|.|.	0.190145|.|.	0.53938|.|.	D|.|.	0.000046|.|.	.|T|.	.|0.57198|.	.|0.2037|.	.|.|.	.|.|.	.|.|.	0.09310|0.09310|0.09310	N|N|N	1|1|1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|T|.	.|0.50874|.	.|-0.8776|.	.|4|.	0.38643|.|.	T|.|.	0.18|.|.	-24.3639|-24.3639|-24.3639	19.8575|19.8575|19.8575	0.96767|0.96767|0.96767	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.|.	.|.|.	.|.|.	.|.|.	X|I|L	156;156;118|47|100	.|.|.	ENSP00000392150:E118X|.|.	E|M|X	+|+|+	1|3|2	0|0|2	C11orf70|C11orf70|C11orf70	101451844|101451844|101451844	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.936000|0.936000|0.936000	0.57629|0.57629|0.57629	4.456000|4.456000|4.456000	0.60081|0.60081|0.60081	2.767000|2.767000|2.767000	0.95098|0.95098|0.95098	0.563000|0.563000|0.563000	0.77884|0.77884|0.77884	GAA|ATG|TGA		0.343	C11orf70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394144.1	NM_032930		17	191	1	0	9.16793e-09	1	1.08952e-08	17	191					T	101946634	G	T	101946634	4	4	16	1	0	0	0	0	0	1	0	0	1659	1291	45	5	366	5	C11orf70	11	101946634	Nonsense_Mutation	SNP	G	TCGA-CH-5741-01A-11D-1576-08	2256254	101946634	33059882	35	665											
MIP	4284	broad.mit.edu	37	chr12	56848144	56848144	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgccatatagcagaaggcaCggagcagggacatctgggag	12	5	15	9	1	1	1	0	0	1	1	1	4	1	4	1	4	3	3	1	4	3	2			TCGA-CH-5741-01A-11D-1576-08	TCGA-CH-5741-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1be2ab-1f84-46dc-b166-4d703d0e8ffa	3b14c841-4ca0-49a9-b938-de2ebbea8bdf	g.chr12:56848144C>T	ENST00000257979.4	-	1	282	c.254G>A	c.(253-255)cGt>cAt	p.R85H	MIP_ENST00000555551.1_Intron	NM_012064.3	NP_036196.1	P30301	MIP_HUMAN	major intrinsic protein of lens fiber	85					canalicular bile acid transport (GO:0015722)|lens development in camera-type eye (GO:0002088)|response to stimulus (GO:0050896)|transmembrane transport (GO:0055085)|visual perception (GO:0007601)|water transport (GO:0006833)	gap junction (GO:0005921)|integral component of plasma membrane (GO:0005887)|intracellular canaliculus (GO:0046691)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	calmodulin binding (GO:0005516)|structural constituent of eye lens (GO:0005212)|transporter activity (GO:0005215)|water channel activity (GO:0015250)	p.R85H(1)		kidney(1)|large_intestine(2)|lung(8)|prostate(1)|skin(3)|urinary_tract(1)	16						GCAGAAGGCACGGAGCAGGGA	0.597																																						ENST00000257979.4																			1	Substitution - Missense(1)	p.R85H(1)	prostate(1)	kidney(1)|large_intestine(2)|lung(8)|prostate(1)|skin(3)|urinary_tract(1)	16						c.(253-255)cGt>cAt		major intrinsic protein of lens fiber							46	50	49					12																	56848144		2203	4300	6503	SO:0001583	missense	4284				response to stimulus|visual perception	gap junction|integral to plasma membrane	structural constituent of eye lens	g.chr12:56848144C>T		CCDS8919.1	12q13	2012-10-02				ENSG00000135517		"Ion channels / Aquaporins"	7103	protein-coding gene	gene with protein product	aquaporin 0	154050				1840563, 7536742	Standard	NM_012064		Approved	MP26, LIM1, AQP0	uc001slh.3	P30301		ENST00000257979.4:c.254G>A	12.37:g.56848144C>T	ENSP00000257979:p.Arg85His					MIP_ENST00000555551.1_Intron	p.R85H	NM_012064.3	NP_036196.1	P30301	MIP_HUMAN			1	282	-			85					Q17R41	Missense_Mutation	SNP	ENST00000257979.4	37	c.254G>A	CCDS8919.1	.	.	.	.	.	.	.	.	.	.	C	29.9	5.044971	0.93685	.	.	ENSG00000135517	ENST00000257979	D	0.88277	-2.36	5.18	5.18	0.71444	Aquaporin-like (2);	0.000000	0.85682	D	0.000000	D	0.93930	0.8057	M	0.81341	2.54	0.80722	D	1	D	0.61080	0.989	P	0.60541	0.876	D	0.94601	0.7796	10	0.87932	D	0	-5.7036	17.8392	0.88710	0.0:1.0:0.0:0.0	.	85	P30301	MIP_HUMAN	H	85	ENSP00000257979:R85H	ENSP00000257979:R85H	R	-	2	0	MIP	55134411	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.487000	0.81328	2.588000	0.87417	0.561000	0.74099	CGT		0.597	MIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409620.1	NM_012064		34	46	0	0	0	1	0	34	46					T	56848144	C	T	56848144	3	4	16	1	0	0	0	0	1	0	0	0	9591	536	19	1	553	1	MIP	12	56848144	Missense_Mutation	SNP	C	TCGA-CH-5741-01A-11D-1576-08		56848144	77003751	36	666											
HELB	92797	broad.mit.edu	37	chr12	66725033	66725033	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccaggggccgctgccgagtgTatgtgattgcagaggagtct	7	9	16	9	2	1	2	0	1	1	1	1	4	1	3	3	3	2	3	3	3	1	2			TCGA-CH-5741-01A-11D-1576-08	TCGA-CH-5741-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1be2ab-1f84-46dc-b166-4d703d0e8ffa	3b14c841-4ca0-49a9-b938-de2ebbea8bdf	g.chr12:66725033T>C	ENST00000247815.4	+	12	2829	c.2770T>C	c.(2770-2772)Tat>Cat	p.Y924H		NM_033647.3	NP_387467.2	Q8NG08	HELB_HUMAN	helicase (DNA) B	924					DNA duplex unwinding (GO:0032508)|DNA replication (GO:0006260)|DNA replication, synthesis of RNA primer (GO:0006269)		ATP binding (GO:0005524)|ATP-dependent 5'-3' DNA helicase activity (GO:0043141)|single-stranded DNA-dependent ATP-dependent DNA helicase activity (GO:0017116)	p.Y924H(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	40			GBM - Glioblastoma multiforme(2;0.000142)	GBM - Glioblastoma multiforme(28;0.0265)		CTGCCGAGTGTATGTGATTGC	0.532																																						ENST00000247815.4																			1	Substitution - Missense(1)	p.Y924H(1)	prostate(1)	autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	40						c.(2770-2772)Tat>Cat		helicase (DNA) B							46	50	48					12																	66725033		2203	4300	6503	SO:0001583	missense	92797				DNA replication, synthesis of RNA primer		ATP binding|ATP-dependent 5'-3' DNA helicase activity|single-stranded DNA-dependent ATP-dependent DNA helicase activity	g.chr12:66725033T>C	AF319995	CCDS8976.1	12q14.2	2009-01-15			ENSG00000127311	ENSG00000127311			17196	protein-coding gene	gene with protein product		614539				12181327	Standard	NM_033647		Approved		uc001sti.3	Q8NG08	OTTHUMG00000169006	ENST00000247815.4:c.2770T>C	12.37:g.66725033T>C	ENSP00000247815:p.Tyr924His						p.Y924H	NM_033647.3	NP_387467.2	Q8NG08	HELB_HUMAN	GBM - Glioblastoma multiforme(2;0.000142)	GBM - Glioblastoma multiforme(28;0.0265)	12	2829	+			924					A8K4C9|Q4G0T2|Q9H7L5	Missense_Mutation	SNP	ENST00000247815.4	37	c.2770T>C	CCDS8976.1	.	.	.	.	.	.	.	.	.	.	T	22.0	4.223926	0.79576	.	.	ENSG00000127311	ENST00000247815	T	0.12984	2.63	5.37	5.37	0.77165	.	0.000000	0.64402	D	0.000002	T	0.38321	0.1036	M	0.77313	2.365	0.41321	D	0.987179	D	0.89917	1.0	D	0.91635	0.999	T	0.21280	-1.0250	9	.	.	.	-16.5279	13.9382	0.64039	0.0:0.0:0.0:1.0	.	924	Q8NG08	HELB_HUMAN	H	924	ENSP00000247815:Y924H	.	Y	+	1	0	HELB	65011300	1.000000	0.71417	0.998000	0.56505	0.963000	0.63663	5.789000	0.69029	2.028000	0.59812	0.459000	0.35465	TAT		0.532	HELB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401919.1			43	99	0	0	0	1	0	43	99					C	66725033	T	C	66725033	3	2	16	1	0	0	0	0	1	0	0	0	7045	1638	57	4	2816	4	HELB	12	66725033	Missense_Mutation	SNP	T	TCGA-CH-5741-01A-11D-1576-08	9876889	66725033	67126862	37	667											
NAV3	89795	broad.mit.edu	37	chr12	78562611	78562611	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctgcccaggcggctattcAgggagcactgaatggtccag	8	8	14	11	1	1	1	1	1	0	0	2	2	2	2	2	4	3	3	2	4	2	2			TCGA-CH-5741-01A-11D-1576-08	TCGA-CH-5741-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1be2ab-1f84-46dc-b166-4d703d0e8ffa	3b14c841-4ca0-49a9-b938-de2ebbea8bdf	g.chr12:78562611A>G	ENST00000397909.2	+	24	5119	c.4946A>G	c.(4945-4947)cAg>cGg	p.Q1649R	NAV3_ENST00000228327.6_Missense_Mutation_p.Q1649R|NAV3_ENST00000536525.2_Missense_Mutation_p.Q1649R|NAV3_ENST00000266692.7_Missense_Mutation_p.Q1472R			Q8IVL0	NAV3_HUMAN	neuron navigator 3	1649						membrane (GO:0016020)|nuclear envelope (GO:0005635)				NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						GCGGCTATTCAGGGAGCACTG	0.373										HNSCC(70;0.22)																												ENST00000397909.2																			0				NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						c.(4945-4947)cAg>cGg		neuron navigator 3							77	79	78					12																	78562611		1828	4069	5897	SO:0001583	missense	89795					nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity	g.chr12:78562611A>G	AB023155	CCDS41815.1, CCDS66432.1	12q14.3	2008-08-05				ENSG00000067798			15998	protein-coding gene	gene with protein product	"pore membrane and/or filament interacting like protein 1", "steerin 3"	611629				12079279, 12062803	Standard	XM_005269215		Approved	KIAA0938, POMFIL1	uc001syo.3	Q8IVL0	OTTHUMG00000170001	ENST00000397909.2:c.4946A>G	12.37:g.78562611A>G	ENSP00000381007:p.Gln1649Arg	HNSCC(70;0.22)				NAV3_ENST00000228327.6_Missense_Mutation_p.Q1649R|NAV3_ENST00000536525.2_Missense_Mutation_p.Q1649R|NAV3_ENST00000266692.7_Missense_Mutation_p.Q1472R	p.Q1649R			Q8IVL0	NAV3_HUMAN			24	5119	+			1649					Q8NFW7|Q9Y2E7	Missense_Mutation	SNP	ENST00000397909.2	37	c.4946A>G		.	.	.	.	.	.	.	.	.	.	A	23.8	4.462850	0.84425	.	.	ENSG00000067798	ENST00000536525;ENST00000397909;ENST00000228327;ENST00000266692;ENST00000378640;ENST00000550788	D;D;D;D;D	0.93189	-3.18;-3.18;-3.18;-3.18;-3.18	5.41	5.41	0.78517	.	0.000000	0.38005	U	0.001858	D	0.91482	0.7311	L	0.61218	1.895	0.80722	D	1	B;B;P;P	0.41848	0.417;0.11;0.736;0.763	B;B;B;B	0.36608	0.142;0.082;0.223;0.229	D	0.92059	0.5655	10	0.54805	T	0.06	-13.8589	15.7378	0.77859	1.0:0.0:0.0:0.0	.	1649;1472;1649;1649	E7EUC6;Q8IVL0-3;Q8IVL0;Q8IVL0-2	.;.;NAV3_HUMAN;.	R	1649;1649;1649;1472;270;278	ENSP00000446132:Q1649R;ENSP00000381007:Q1649R;ENSP00000228327:Q1649R;ENSP00000266692:Q1472R;ENSP00000448303:Q278R	ENSP00000228327:Q1649R	Q	+	2	0	NAV3	77086742	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.526000	0.81920	2.185000	0.69588	0.528000	0.53228	CAG		0.373	NAV3-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000406812.1	NM_001024383		3	226	0	0	0	1	0	3	226					G	78562611	A	G	78562611	3	3	16	1	0	0	0	0	1	0	0	0	10185	188	7	4	5040	4	NAV3	12	78562611	Missense_Mutation	SNP	A	TCGA-CH-5741-01A-11D-1576-08	11837578	78562611	55289284	38	668											
ACSS3	79611	broad.mit.edu	37	chr12	81647350	81647350	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aacattggccctgtggctgcTtttcgaaatgcagtgtttgt	7	15	11	8	1	0	0	0	0	0	0	1	1	0	0	1	2	3	4	1	2	2	4			TCGA-CH-5741-01A-11D-1576-08	TCGA-CH-5741-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1be2ab-1f84-46dc-b166-4d703d0e8ffa	3b14c841-4ca0-49a9-b938-de2ebbea8bdf	g.chr12:81647350T>C	ENST00000548058.1	+	15	2806	c.1896T>C	c.(1894-1896)gcT>gcC	p.A632A	ACSS3_ENST00000548324.1_Silent_p.A314A|ACSS3_ENST00000261206.3_Silent_p.A631A			Q9H6R3	ACSS3_HUMAN	acyl-CoA synthetase short-chain family member 3	632						mitochondrion (GO:0005739)	acetate-CoA ligase activity (GO:0003987)|ATP binding (GO:0005524)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(7)|liver(3)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	51						CTGTGGCTGCTTTTCGAAATG	0.433																																						ENST00000548058.1																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(7)|liver(3)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	51						c.(1894-1896)gcT>gcC		acyl-CoA synthetase short-chain family member 3							99	100	99					12																	81647350		2203	4300	6503	SO:0001819	synonymous_variant	79611					mitochondrion	acetate-CoA ligase activity|ATP binding	g.chr12:81647350T>C		CCDS9022.1	12q21.31	2014-08-08			ENSG00000111058	ENSG00000111058		"Acyl-CoA synthetase family"	24723	protein-coding gene	gene with protein product		614356				17762044	Standard	NM_024560		Approved	FLJ21963	uc001szl.1	Q9H6R3	OTTHUMG00000170179	ENST00000548058.1:c.1896T>C	12.37:g.81647350T>C						ACSS3_ENST00000261206.3_Silent_p.A631A|ACSS3_ENST00000548324.1_Silent_p.A314A	p.A632A			Q9H6R3	ACSS3_HUMAN			15	2806	+			632					Q8NC66	Silent	SNP	ENST00000548058.1	37	c.1896T>C	CCDS9022.1																																																																																				0.433	ACSS3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000407794.1	NM_024560		6	207	0	0	0	1	0	6	207					C	81647350	T	C	81647350	2	2	16	1	0	0	0	0	0	0	0	1	190	1596	56	4		4	ACSS3	12	81647350	Silent	SNP	T	TCGA-CH-5741-01A-11D-1576-08	3084739	81647350	52204545	39	669											
TMEM55B	90809	broad.mit.edu	37	chr14	20927580	20927580	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gaggacaacgtgccaaagtgCggtctgtgaactctgtccac	10	8	12	11	2	2	1	0	1	2	0	3	3	3	2	2	2	4	0	2	2	3	0			TCGA-CH-5741-01A-11D-1576-08	TCGA-CH-5741-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1be2ab-1f84-46dc-b166-4d703d0e8ffa	3b14c841-4ca0-49a9-b938-de2ebbea8bdf	g.chr14:20927580C>T	ENST00000250489.4	-	5	852	c.566G>A	c.(565-567)cGc>cAc	p.R189H	TMEM55B_ENST00000398020.4_Missense_Mutation_p.R196H|TMEM55B_ENST00000554028.1_Missense_Mutation_p.R22H			Q86T03	TM55B_HUMAN	transmembrane protein 55B	189						endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)	hydrolase activity (GO:0016787)	p.R189H(1)		endometrium(3)|kidney(2)|large_intestine(2)|lung(3)|prostate(1)	11	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;1.09e-07)|all cancers(55;1.19e-06)	GBM - Glioblastoma multiforme(265;0.0224)|READ - Rectum adenocarcinoma(17;0.193)		TGCCAAAGTGCGGTCTGTGAA	0.443																																						ENST00000250489.4																			1	Substitution - Missense(1)	p.R189H(1)	endometrium(1)	endometrium(3)|kidney(2)|large_intestine(2)|lung(3)|prostate(1)	11						c.(565-567)cGc>cAc		transmembrane protein 55B							235	227	230					14																	20927580		2203	4300	6503	SO:0001583	missense	90809					integral to membrane|late endosome membrane|lysosomal membrane	hydrolase activity	g.chr14:20927580C>T	BC002867	CCDS9551.1, CCDS41911.1	14q11.1	2002-11-27	2005-07-18	2005-07-18	ENSG00000165782	ENSG00000165782			19299	protein-coding gene	gene with protein product		609865	"chromosome 14 open reading frame 9"	C14orf9			Standard	NM_144568		Approved	MGC26684	uc001vxk.2	Q86T03	OTTHUMG00000029545	ENST00000250489.4:c.566G>A	14.37:g.20927580C>T	ENSP00000250489:p.Arg189His					TMEM55B_ENST00000554028.1_Missense_Mutation_p.R22H|TMEM55B_ENST00000398020.4_Missense_Mutation_p.R196H	p.R189H			Q86T03	TM55B_HUMAN	Epithelial(56;1.09e-07)|all cancers(55;1.19e-06)	GBM - Glioblastoma multiforme(265;0.0224)|READ - Rectum adenocarcinoma(17;0.193)	5	852	-	all_cancers(95;0.00123)	all_lung(585;0.235)	189					B2RA35|Q86U09|Q8WUC0|Q9BU67|Q9NSU8	Missense_Mutation	SNP	ENST00000250489.4	37	c.566G>A	CCDS9551.1	.	.	.	.	.	.	.	.	.	.	C	27.3	4.819763	0.90873	.	.	ENSG00000165782	ENST00000250489;ENST00000398020;ENST00000554028	.	.	.	5.16	5.16	0.70880	.	0.064020	0.64402	D	0.000006	T	0.68833	0.3044	L	0.41236	1.265	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.81914	0.995;0.991	T	0.68716	-0.5335	9	0.45353	T	0.12	-2.9343	17.4467	0.87580	0.0:1.0:0.0:0.0	.	189;196	Q86T03;Q86T03-2	TM55B_HUMAN;.	H	189;196;22	.	ENSP00000250489:R189H	R	-	2	0	TMEM55B	19997420	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	4.342000	0.59341	2.407000	0.81776	0.650000	0.86243	CGC		0.443	TMEM55B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000073643.3	NM_144568		5	475	0	0	0	1	0	5	475					T	20927580	C	T	20927580	3	4	16	1	0	0	0	0	1	0	0	0	16179	768	27	1	279	1	TMEM55B	14	20927580	Missense_Mutation	SNP	C	TCGA-CH-5741-01A-11D-1576-08		20927580	86421960	40	670											
C14orf101	54916	broad.mit.edu	37	chr14	57114085	57114085	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agatcctgaagtgctgttatCggaaaccatcagacatttcc	12	11	8	10	1	1	3	1	1	0	2	4	4	3	4	3	1	2	2	3	1	3	2	rs147042249		TCGA-CH-5741-01A-11D-1576-08	TCGA-CH-5741-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1be2ab-1f84-46dc-b166-4d703d0e8ffa	3b14c841-4ca0-49a9-b938-de2ebbea8bdf	g.chr14:57114085C>T	ENST00000261556.6	+	16	2116	c.1994C>T	c.(1993-1995)tCg>tTg	p.S665L	TMEM260_ENST00000536419.1_Missense_Mutation_p.S199L|RP11-1085N6.2_ENST00000553800.1_RNA|RP11-1085N6.2_ENST00000555924.1_RNA	NM_017799.3	NP_060269.3	Q9NX78	TM260_HUMAN	transmembrane protein 260	665						integral component of membrane (GO:0016021)		p.S665L(1)									GTGCTGTTATCGGAAACCATC	0.478													C|||	1	0.000199681	8e-04	0	5008	,	,		16437	0		0	False		,,,				2504	0					ENST00000261556.6																			1	Substitution - Missense(1)	p.S665L(1)	prostate(1)								c.(1993-1995)tCg>tTg		transmembrane protein 260		C	LEU/SER	3,4403	6.2+/-15.9	0,3,2200	96	81	86		1994	5.4	1	14	dbSNP_134	86	0,8600		0,0,4300	yes	missense	C14orf101	NM_017799.3	145	0,3,6500	TT,TC,CC		0.0,0.0681,0.0231	probably-damaging	665/708	57114085	3,13003	2203	4300	6503	SO:0001583	missense	54916							g.chr14:57114085C>T	AK000399	CCDS9727.2	14q22.2	2013-03-08	2013-03-08	2013-03-08	ENSG00000070269	ENSG00000070269			20185	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 101"	C14orf101			Standard	XR_245695		Approved	FLJ20392	uc001xcm.3	Q9NX78	OTTHUMG00000152337	ENST00000261556.6:c.1994C>T	14.37:g.57114085C>T	ENSP00000261556:p.Ser665Leu					TMEM260_ENST00000536419.1_Missense_Mutation_p.S199L|RP11-1085N6.2_ENST00000555924.1_RNA|RP11-1085N6.2_ENST00000553800.1_RNA	p.S665L	NM_017799.3	NP_060269.3					16	2116	+								A8KAN4|B3KPF5|Q86XE1	Missense_Mutation	SNP	ENST00000261556.6	37	c.1994C>T	CCDS9727.2	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	14.67	2.604153	0.46423	6.81E-4	0.0	ENSG00000070269	ENST00000261556;ENST00000536419	T;T	0.49720	1.35;0.77	5.43	5.43	0.79202	.	0.124732	0.56097	D	0.000026	T	0.36413	0.0966	L	0.32530	0.975	0.43330	D	0.995367	B	0.23490	0.086	B	0.12837	0.008	T	0.13899	-1.0492	10	0.48119	T	0.1	-20.0256	11.9479	0.52938	0.0:0.9211:0.0:0.0789	.	665	Q9NX78	CN101_HUMAN	L	665;199	ENSP00000261556:S665L;ENSP00000438742:S199L	ENSP00000261556:S665L	S	+	2	0	C14orf101	56183838	0.995000	0.38212	0.992000	0.48379	0.603000	0.37013	3.636000	0.54317	2.823000	0.97156	0.650000	0.86243	TCG		0.478	TMEM260-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276924.1	NM_017799		10	126	0	0	0	1	0	10	126					T	57114085	C	T	57114085	3	4	16	1	0	0	0	0	1	0	0	0	1734	893	31	2	2056	2	C14orf101	14	57114085	Missense_Mutation	SNP	C	TCGA-CH-5741-01A-11D-1576-08	36186505	57114085	50235455	41	671											
DYNC1H1	1778	broad.mit.edu	37	chr14	102474613	102474613	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cggatgctctcggctgtgtcCcagcaggtgcagtgcataca	7	9	13	12	2	1	0	0	0	1	0	3	1	2	1	1	3	5	5	1	3	1	1			TCGA-CH-5741-01A-11D-1576-08	TCGA-CH-5741-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1be2ab-1f84-46dc-b166-4d703d0e8ffa	3b14c841-4ca0-49a9-b938-de2ebbea8bdf	g.chr14:102474613C>A	ENST00000360184.4	+	29	6080	c.5916C>A	c.(5914-5916)tcC>tcA	p.S1972S		NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	1972	AAA 1. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|cytoplasmic mRNA processing body assembly (GO:0033962)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic spindle organization (GO:0007052)|stress granule assembly (GO:0034063)|transport (GO:0006810)	centrosome (GO:0005813)|cytoplasmic dynein complex (GO:0005868)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|poly(A) RNA binding (GO:0044822)	p.S1972S(1)		NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						CGGCTGTGTCCCAGCAGGTGC	0.537																																						ENST00000360184.4																			1	Substitution - coding silent(1)	p.S1972S(1)	prostate(1)	NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						c.(5914-5916)tcC>tcA		dynein, cytoplasmic 1, heavy chain 1							66	60	62					14																	102474613		2203	4300	6503	SO:0001819	synonymous_variant	1778				cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding	g.chr14:102474613C>A	AB002323	CCDS9966.1	14q32.31	2006-12-21	2005-11-24	2005-11-24		ENSG00000197102		"Cytoplasmic dyneins"	2961	protein-coding gene	gene with protein product		600112	"dynein, cytoplasmic, heavy polypeptide 1"	DNECL, DNCL, DNCH1		16260502, 8666668	Standard	NM_001376		Approved	Dnchc1, HL-3, p22, DHC1	uc001yks.2	Q14204		ENST00000360184.4:c.5916C>A	14.37:g.102474613C>A							p.S1972S	NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN			29	6080	+			1972			AAA 1 (By similarity).		B0I1R0|Q6DKQ7|Q8WU28|Q92814|Q9Y4G5	Silent	SNP	ENST00000360184.4	37	c.5916C>A	CCDS9966.1																																																																																				0.537	DYNC1H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414574.1	NM_001376		38	51	1	0	1.57019e-19	1	1.92173e-19	38	51					A	102474613	C	A	102474613	2	1	16	1	0	0	0	0	0	0	0	1	4841	610	22	5		5	DYNC1H1	14	102474613	Silent	SNP	C	TCGA-CH-5741-01A-11D-1576-08	45360528	102474613	4874927	42	672											
TIMM22	29928	broad.mit.edu	37	chr17	900589	900589	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gagaaggcgatggaaagctgCgctttcaaggctgcgctggc	9	7	16	9	3	1	1	1	0	0	1	1	4	1	2	0	4	3	4	0	4	3	1			TCGA-CH-5741-01A-11D-1576-08	TCGA-CH-5741-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1be2ab-1f84-46dc-b166-4d703d0e8ffa	3b14c841-4ca0-49a9-b938-de2ebbea8bdf	g.chr17:900589C>A	ENST00000327158.4	+	1	233	c.207C>A	c.(205-207)tgC>tgA	p.C69*		NM_013337.2	NP_037469.2	Q9Y584	TIM22_HUMAN	translocase of inner mitochondrial membrane 22 homolog (yeast)	69					cellular protein metabolic process (GO:0044267)|protein import into mitochondrial inner membrane (GO:0045039)|protein targeting to mitochondrion (GO:0006626)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)	protein channel activity (GO:0015266)	p.C69*(1)		breast(2)|endometrium(2)|large_intestine(1)|prostate(1)|upper_aerodigestive_tract(1)	7				UCEC - Uterine corpus endometrioid carcinoma (25;0.022)		TGGAAAGCTGCGCTTTCAAGG	0.662																																						ENST00000327158.3																			1	Substitution - Nonsense(1)	p.C69*(1)	prostate(1)	breast(2)|endometrium(2)|large_intestine(1)|prostate(1)|upper_aerodigestive_tract(1)	7						c.(205-207)tgC>tgA		translocase of inner mitochondrial membrane 22 homolog (yeast)							57	54	55					17																	900589		2201	4298	6499	SO:0001587	stop_gained	29928				transmembrane transport	integral to membrane|mitochondrial inner membrane	protein transporter activity	g.chr17:900589C>A	AF155330	CCDS32521.1	17p13	2008-02-05	2003-07-22			ENSG00000177370			17317	protein-coding gene	gene with protein product		607251	"testis-expressed sequence 4"	TEX4			Standard	NM_013337		Approved		uc002fsc.3	Q9Y584		ENST00000327158.4:c.207C>A	17.37:g.900589C>A	ENSP00000320236:p.Cys69*						p.C69*	NM_013337.2	NP_037469.2	Q9Y584	TIM22_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.022)	1	233	+			69					Q9NWI8	Nonsense_Mutation	SNP	ENST00000327158.4	37	c.207C>A	CCDS32521.1	.	.	.	.	.	.	.	.	.	.	C	37	6.338194	0.97485	.	.	ENSG00000177370	ENST00000327158	.	.	.	5.61	2.58	0.30949	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-12.8231	9.0432	0.36329	0.0:0.7142:0.0:0.2858	.	.	.	.	X	69	.	ENSP00000320236:C69X	C	+	3	2	TIMM22	847339	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	0.997000	0.29731	0.308000	0.22923	-0.355000	0.07637	TGC		0.662	TIMM22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450107.2	NM_013337		3	47	1	0	0.115264	1	0.121175	3	47					A	900589	C	A	900589	4	1	16	1	0	0	0	0	0	1	0	0	15907	776	27	5	209	5	TIMM22	17	900589	Nonsense_Mutation	SNP	C	TCGA-CH-5741-01A-11D-1576-08		900589	80294621	43	673											
NLRP1	22861	broad.mit.edu	37	chr17	5418327	5418327	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccaccgatgtcactcgggctAtcagctgctctcgatactgg	7	10	10	14	3	3	0	2	0	1	0	5	2	3	0	2	2	3	3	2	2	2	2			TCGA-CH-5741-01A-11D-1576-08	TCGA-CH-5741-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1be2ab-1f84-46dc-b166-4d703d0e8ffa	3b14c841-4ca0-49a9-b938-de2ebbea8bdf	g.chr17:5418327A>G	ENST00000572272.1	-	17	4168	c.4169T>C	c.(4168-4170)aTa>aCa	p.I1390T	NLRP1_ENST00000354411.3_Missense_Mutation_p.I1360T|NLRP1_ENST00000269280.4_Missense_Mutation_p.I1346T|RNU7-31P_ENST00000517262.1_RNA|NLRP1_ENST00000262467.5_Intron|NLRP1_ENST00000345221.3_Missense_Mutation_p.I1346T|NLRP1_ENST00000577119.1_Missense_Mutation_p.I1316T			Q9C000	NALP1_HUMAN	NLR family, pyrin domain containing 1	1390	CARD. {ECO:0000255|PROSITE- ProRule:PRU00046}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|defense response to bacterium (GO:0042742)|innate immune response (GO:0045087)|neuron apoptotic process (GO:0051402)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of interleukin-1 beta secretion (GO:0050718)|regulation of inflammatory response (GO:0050727)|response to muramyl dipeptide (GO:0032495)	cytosol (GO:0005829)|intracellular (GO:0005622)|NLRP1 inflammasome complex (GO:0072558)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|enzyme binding (GO:0019899)|protein domain specific binding (GO:0019904)	p.I1390T(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(17)|liver(5)|lung(17)|ovary(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Colorectal(1115;3.48e-05)				CACTCGGGCTATCAGCTGCTC	0.582																																						ENST00000345221.3																			1	Substitution - Missense(1)	p.I1390T(1)	prostate(1)	breast(4)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(17)|liver(5)|lung(17)|ovary(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						c.(4036-4038)aTa>aCa		NLR family, pyrin domain containing 1							63	67	66					17																	5418327		2109	4233	6342	SO:0001583	missense	22861				defense response to bacterium|induction of apoptosis|neuron apoptosis|positive regulation of interleukin-1 beta secretion|response to muramyl dipeptide	cytoplasm|NALP1 inflammasome complex|nucleus	ATP binding|caspase activator activity|enzyme binding|protein domain specific binding	g.chr17:5418327A>G	AB023143	CCDS32537.1, CCDS42244.1, CCDS42245.1, CCDS42246.1, CCDS58508.1	17p13	2014-01-29	2006-12-08	2006-12-08	ENSG00000091592	ENSG00000091592		"Nucleotide-binding domain and leucine rich repeat containing"	14374	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 1"	606636	"NACHT, leucine rich repeat and PYD (pyrin domain) containing 1", "systemic lupus erythematosus, vitiligo-related 1"	NALP1, SLEV1		8781126, 12563287, 17377159	Standard	NM_033006		Approved	KIAA0926, DKFZp586O1822, CARD7, NAC, CLR17.1, DEFCAP, VAMAS1	uc002gci.3	Q9C000		ENST00000572272.1:c.4169T>C	17.37:g.5418327A>G	ENSP00000460475:p.Ile1390Thr					NLRP1_ENST00000262467.5_Intron|NLRP1_ENST00000354411.3_Missense_Mutation_p.I1360T|NLRP1_ENST00000572272.1_Missense_Mutation_p.I1390T|NLRP1_ENST00000577119.1_Missense_Mutation_p.I1316T|NLRP1_ENST00000269280.4_Missense_Mutation_p.I1346T	p.I1346T	NM_014922.4|NM_033004.3|NM_033007.3	NP_055737.1|NP_127497.1|NP_127500.1	Q9C000	NALP1_HUMAN			16	4591	-		Colorectal(1115;3.48e-05)	1390					E9PE50|I6L9D9|Q9BZZ8|Q9BZZ9|Q9H5Z7|Q9H5Z8|Q9HAV8|Q9UFT4|Q9Y2E0	Missense_Mutation	SNP	ENST00000572272.1	37	c.4037T>C	CCDS42246.1	.	.	.	.	.	.	.	.	.	.	A	8.722	0.914490	0.17907	.	.	ENSG00000091592	ENST00000269280;ENST00000354411;ENST00000345221	T;T	0.25250	1.81;1.81	5.07	4.0	0.46444	DEATH-like (2);Caspase Recruitment (2);	0.503974	0.14778	N	0.298930	T	0.27098	0.0664	M	0.64404	1.975	0.09310	N	1	B;B;B;B	0.31625	0.332;0.163;0.196;0.332	B;B;B;B	0.30943	0.075;0.075;0.122;0.075	T	0.20773	-1.0265	10	0.87932	D	0	.	9.1808	0.37141	0.9124:0.0:0.0876:0.0	.	1316;1360;1390;1346	Q9C000-3;Q9C000-4;Q9C000;Q9C000-2	.;.;NALP1_HUMAN;.	T	1390;1360;1346	ENSP00000346390:I1360T;ENSP00000324366:I1346T	ENSP00000269280:I1390T	I	-	2	0	NLRP1	5359051	0.420000	0.25457	0.010000	0.14722	0.190000	0.23558	3.245000	0.51407	0.902000	0.36520	0.529000	0.55759	ATA		0.582	NLRP1-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000439517.1	NM_033004		3	93	0	0	0	1	0	3	93					G	5418327	A	G	5418327	3	3	16	1	0	0	0	0	1	0	0	0	10471	449	16	4	319	4	NLRP1	17	5418327	Missense_Mutation	SNP	A	TCGA-CH-5741-01A-11D-1576-08	4517738	5418327	75776883	44	674											
RAB34	83871	broad.mit.edu	37	chr17	27042839	27042839	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gctgcaaactgaagggaatgCccagcacctcaaatcgttcc	12	7	9	13	1	1	1	1	1	0	0	3	2	2	2	3	1	4	4	3	1	4	1			TCGA-CH-5741-01A-11D-1576-08	TCGA-CH-5741-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1be2ab-1f84-46dc-b166-4d703d0e8ffa	3b14c841-4ca0-49a9-b938-de2ebbea8bdf	g.chr17:27042839C>T	ENST00000395245.3	-	4	919	c.293G>A	c.(292-294)gGc>gAc	p.G98D	RAB34_ENST00000450529.1_Missense_Mutation_p.G98D|RAB34_ENST00000453384.3_Missense_Mutation_p.G156D|RAB34_ENST00000447716.1_Missense_Mutation_p.G155D|RAB34_ENST00000415040.2_Missense_Mutation_p.G76D|RAB34_ENST00000395243.3_Missense_Mutation_p.G98D|RAB34_ENST00000395242.2_Missense_Mutation_p.G99D|RAB34_ENST00000301043.6_Missense_Mutation_p.G98D|RAB34_ENST00000436730.3_Missense_Mutation_p.G98D	NM_001256281.1|NM_031934.5	NP_001243210.1|NP_114140.4	Q9BZG1	RAB34_HUMAN	RAB34, member RAS oncogene family	98					antigen processing and presentation (GO:0019882)|Golgi to plasma membrane protein transport (GO:0043001)|lysosome localization (GO:0032418)|phagosome maturation (GO:0090382)|phagosome-lysosome fusion (GO:0090385)|protein localization to plasma membrane (GO:0072659)|small GTPase mediated signal transduction (GO:0007264)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi cisterna (GO:0031985)|Golgi stack (GO:0005795)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|phagocytic vesicle (GO:0045335)|vesicle (GO:0031982)	GTP binding (GO:0005525)			endometrium(1)|kidney(1)|large_intestine(1)|liver(1)|lung(8)|skin(2)	14	Lung NSC(42;0.00431)					GAAGGGAATGCCCAGCACCTC	0.517																																					Pancreas(175;216 2049 29940 32498 41589)	ENST00000395245.3																			0				endometrium(1)|kidney(1)|large_intestine(1)|liver(1)|lung(8)|skin(2)	14						c.(292-294)gGc>gAc		RAB34, member RAS oncogene family							202	195	197					17																	27042839		2203	4300	6503	SO:0001583	missense	83871				protein transport|small GTPase mediated signal transduction	Golgi apparatus	GTP binding	g.chr17:27042839C>T	AF322067	CCDS11240.1, CCDS45636.1, CCDS54101.1, CCDS58536.1	17q11.2	2008-07-18			ENSG00000109113	ENSG00000109113		"RAB, member RAS oncogene"	16519	protein-coding gene	gene with protein product		610917				12446704	Standard	NM_031934		Approved	RAB39, RAH	uc010was.1	P0DI83	OTTHUMG00000132680	ENST00000395245.3:c.293G>A	17.37:g.27042839C>T	ENSP00000378666:p.Gly98Asp					RAB34_ENST00000395242.2_Missense_Mutation_p.G99D|RAB34_ENST00000453384.3_Missense_Mutation_p.G156D|RAB34_ENST00000301043.6_Missense_Mutation_p.G98D|RAB34_ENST00000436730.3_Missense_Mutation_p.G98D|RAB34_ENST00000395243.3_Missense_Mutation_p.G98D|RAB34_ENST00000450529.1_Missense_Mutation_p.G98D|RAB34_ENST00000415040.2_Missense_Mutation_p.G76D|RAB34_ENST00000447716.1_Missense_Mutation_p.G155D	p.G98D	NM_001256281.1|NM_031934.5	NP_001243210.1|NP_114140.4	Q9BZG1	RAB34_HUMAN			4	919	-	Lung NSC(42;0.00431)		98					B4E3A0|E9PEJ9|Q5BJE6|Q8NCJ8|Q96AR4	Missense_Mutation	SNP	ENST00000395245.3	37	c.293G>A	CCDS11240.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.59|14.59	2.582074|2.582074	0.46006|0.46006	.|.	.|.	ENSG00000109113|ENSG00000109113	ENST00000419712|ENST00000453384;ENST00000447716;ENST00000301043;ENST00000395243;ENST00000415040;ENST00000450529;ENST00000395242;ENST00000395245;ENST00000436730;ENST00000430132;ENST00000412625;ENST00000353676	.|D;D;D;D;D;D;D;D;D	.|0.82526	.|-1.62;-1.62;-1.62;-1.62;-1.62;-1.62;-1.62;-1.62;-1.62	5.68|5.68	5.68|5.68	0.88126|0.88126	.|Small GTP-binding protein domain (1);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.86372|0.86372	0.5917|0.5917	L|L	0.28054|0.28054	0.825|0.825	.|.	.|.	.|.	.|D;D;D;D;D;D;D	.|0.89917	.|1.0;1.0;0.991;1.0;0.965;0.993;1.0	.|D;D;P;D;D;D;D	.|0.97110	.|1.0;1.0;0.86;1.0;0.919;0.914;1.0	D|D	0.87745|0.87745	0.2588|0.2588	4|9	.|0.72032	.|D	.|0.01	-18.566|-18.566	17.2803|17.2803	0.87126|0.87126	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|156;76;98;121;121;99;98	.|E7ES60;E9PEJ9;Q9BZG1-2;C9JI96;B4DNC0;A8MYQ9;Q9BZG1	.|.;.;.;.;.;.;RAB34_HUMAN	T|D	119|156;155;98;98;76;121;99;98;121;99;98;98	.|ENSP00000413156:G156D;ENSP00000410403:G155D;ENSP00000301043:G98D;ENSP00000378664:G98D;ENSP00000410279:G76D;ENSP00000378663:G99D;ENSP00000378666:G98D;ENSP00000398706:G98D;ENSP00000226259:G98D	.|ENSP00000301043:G98D	A|G	-|-	1|2	0|0	RAB34|RAB34	24066966|24066966	1.000000|1.000000	0.71417|0.71417	0.969000|0.969000	0.41365|0.41365	0.842000|0.842000	0.47809|0.47809	5.703000|5.703000	0.68340|0.68340	2.685000|2.685000	0.91497|0.91497	0.462000|0.462000	0.41574|0.41574	GCA|GGC		0.517	RAB34-018	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000345906.1	NM_031934		4	315	0	0	0	1	0	4	315					T	27042839	C	T	27042839	3	4	16	1	0	0	0	0	1	0	0	0	12924	739	26	3	578	3	RAB34	17	27042839	Missense_Mutation	SNP	C	TCGA-CH-5741-01A-11D-1576-08	21624512	27042839	54152371	45	675											
KRT25	147183	broad.mit.edu	37	chr17	38911399	38911399	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aggcactagagaagccacttCcaatccctgaaatgccacaa	15	6	7	13	0	0	2	0	1	0	1	2	3	2	2	4	1	2	1	4	1	5	2			TCGA-CH-5741-01A-11D-1576-08	TCGA-CH-5741-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1be2ab-1f84-46dc-b166-4d703d0e8ffa	3b14c841-4ca0-49a9-b938-de2ebbea8bdf	g.chr17:38911399C>A	ENST00000312150.4	-	1	185	c.125G>T	c.(124-126)gGa>gTa	p.G42V		NM_181534.3	NP_853512.1			keratin 25									p.G42V(1)		endometrium(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(4)	16		Breast(137;0.00526)				GAAGCCACTTCCAATCCCTGA	0.557																																						ENST00000312150.4																			1	Substitution - Missense(1)	p.G42V(1)	prostate(1)	endometrium(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(4)	16						c.(124-126)gGa>gTa		keratin 25							61	59	60					17																	38911399		2203	4300	6503	SO:0001583	missense	147183					cytoplasm|intermediate filament	structural molecule activity	g.chr17:38911399C>A	AK129503	CCDS11373.1	17q21.2	2013-01-16	2006-07-17	2006-07-17	ENSG00000204897	ENSG00000204897		"-", "Intermediate filaments type I, keratins (acidic)"	30839	protein-coding gene	gene with protein product			"keratin 25A"	KRT25A		16831889	Standard	NM_181534		Approved		uc002hve.3	Q7Z3Z0	OTTHUMG00000133373	ENST00000312150.4:c.125G>T	17.37:g.38911399C>A	ENSP00000310573:p.Gly42Val						p.G42V	NM_181534.3	NP_853512.1	Q7Z3Z0	K1C25_HUMAN			1	185	-		Breast(137;0.00526)	42			Gly-rich.|Head.			Missense_Mutation	SNP	ENST00000312150.4	37	c.125G>T	CCDS11373.1	.	.	.	.	.	.	.	.	.	.	C	15.88	2.962499	0.53400	.	.	ENSG00000204897	ENST00000394042;ENST00000312150	D	0.85629	-2.01	5.76	5.76	0.90799	.	0.000000	0.64402	D	0.000004	D	0.87744	0.6254	L	0.29908	0.895	0.58432	D	0.999995	D	0.76494	0.999	P	0.61874	0.895	D	0.87527	0.2450	10	0.48119	T	0.1	.	19.5546	0.95338	0.0:1.0:0.0:0.0	.	42	Q7Z3Z0	K1C25_HUMAN	V	42	ENSP00000310573:G42V	ENSP00000310573:G42V	G	-	2	0	KRT25	36164925	1.000000	0.71417	1.000000	0.80357	0.556000	0.35491	4.735000	0.62051	2.727000	0.93392	0.655000	0.94253	GGA		0.557	KRT25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257218.1	NM_181534		5	67	1	0	1.12685e-05	1	1.28336e-05	5	67					A	38911399	C	A	38911399	3	1	16	1	0	0	0	0	1	0	0	0	8462	855	30	5	1259	5	KRT25	17	38911399	Missense_Mutation	SNP	C	TCGA-CH-5741-01A-11D-1576-08	11868560	38911399	42283811	46	676											
C17orf28	283987	broad.mit.edu	37	chr17	72949181	72949181	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cctccatgcctggctgggctCctggcccccagaaaggaaca	8	6	11	16	0	0	1	0	0	0	1	2	2	2	2	6	4	2	2	6	4	2	0			TCGA-CH-5741-01A-11D-1576-08	TCGA-CH-5741-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1be2ab-1f84-46dc-b166-4d703d0e8ffa	3b14c841-4ca0-49a9-b938-de2ebbea8bdf	g.chr17:72949181C>A	ENST00000425042.2	-	16	2049	c.1972G>T	c.(1972-1974)Gag>Tag	p.E658*		NM_030630.2	NP_085133.1	Q8IV36	HID1_HUMAN	HID1 domain containing	658					intracellular protein transport (GO:0006886)|response to brefeldin A (GO:0031001)	cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|extracellular vesicular exosome (GO:0070062)|extrinsic component of Golgi membrane (GO:0090498)|Golgi apparatus (GO:0005794)|Golgi medial cisterna (GO:0005797)|Golgi trans cisterna (GO:0000138)		p.E658*(1)									TGGCTGGGCTCCTGGCCCCCA	0.672																																						ENST00000425042.2																			1	Substitution - Nonsense(1)	p.E658*(1)	prostate(1)								c.e16-1		HID1 domain containing							18	16	17					17																	72949181		2203	4299	6502	SO:0001630	splice_region_variant	283987							g.chr17:72949181C>A		CCDS32726.1	17q25.1	2012-10-10	2012-10-10	2012-10-10	ENSG00000167861	ENSG00000167861			15736	protein-coding gene	gene with protein product	"downregulated in multiple cancer 1"	605752	"chromosome 17 open reading frame 28"	C17orf28		11281419, 21337012	Standard	NM_030630		Approved	DMC1, HID-1	uc002jmj.4	Q8IV36	OTTHUMG00000166490	ENST00000425042.2:c.1972-1G>T	17.37:g.72949181C>A							p.E658_splice	NM_030630.2	NP_085133.1					16	2049	-								Q8N5L6|Q8TE83|Q9NT34	Splice_Site	SNP	ENST00000425042.2	37	c.1971_splice	CCDS32726.1	.	.	.	.	.	.	.	.	.	.	C	38	7.272381	0.98179	.	.	ENSG00000167861	ENST00000525426;ENST00000425042;ENST00000318565	.	.	.	5.09	5.09	0.68999	.	0.473749	0.22282	N	0.062105	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07644	T	0.81	-27.2514	13.1243	0.59344	0.1604:0.8396:0.0:0.0	.	.	.	.	X	430;658;430	.	ENSP00000317795:E430X	E	-	1	0	C17orf28	70460776	1.000000	0.71417	0.997000	0.53966	0.740000	0.42216	3.194000	0.51005	2.372000	0.80975	0.561000	0.74099	GAG		0.672	HID1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390011.2	NM_030630	Nonsense_Mutation	3	13	1	0	1	1	1	3	13					A	72949181	C	A	72949181	5	1	16	1	0	0	0	0	0	0	1	0	1853	869	30	5	410	5	C17orf28	17	72949181	Splice_Site	SNP	C	TCGA-CH-5741-01A-11D-1576-08	34037782	72949181	8246029	47	677											
ANKRD30B	374860	broad.mit.edu	37	chr18	14757889	14757889	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cttcagcaaaatgttgacgtCtttgctgaagacatacatgg	12	12	9	8	1	2	3	1	2	1	1	2	3	2	3	0	1	3	3	0	1	4	4			TCGA-CH-5741-01A-11D-1576-08	TCGA-CH-5741-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1be2ab-1f84-46dc-b166-4d703d0e8ffa	3b14c841-4ca0-49a9-b938-de2ebbea8bdf	g.chr18:14757889C>G	ENST00000358984.4	+	5	873	c.693C>G	c.(691-693)gtC>gtG	p.V231V	ANKRD30B_ENST00000579292.1_Intron|RNU6-1210P_ENST00000363775.1_RNA|ANKRD30B_ENST00000447268.2_Silent_p.V231V	NM_001145029.1	NP_001138501.1	Q9BXX2	AN30B_HUMAN	ankyrin repeat domain 30B	231								p.V231V(2)		breast(3)|endometrium(4)|kidney(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	22						ATGTTGACGTCTTTGCTGAAG	0.378																																						ENST00000358984.4																			2	Substitution - coding silent(2)	p.V231V(2)	prostate(2)	breast(3)|endometrium(4)|kidney(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	22						c.(691-693)gtC>gtG		ankyrin repeat domain 30B							122	98	105					18																	14757889		692	1591	2283	SO:0001819	synonymous_variant	374860							g.chr18:14757889C>G	BC028407	CCDS54182.1	18p11.21	2013-01-10			ENSG00000180777	ENSG00000180777		"Ankyrin repeat domain containing"	24165	protein-coding gene	gene with protein product						11280766	Standard	NM_001145029		Approved	NY-BR-1.1	uc010dlo.2	Q9BXX2		ENST00000358984.4:c.693C>G	18.37:g.14757889C>G						ANKRD30B_ENST00000579292.1_Intron|ANKRD30B_ENST00000447268.2_Silent_p.V231V	p.V231V	NM_001145029.1	NP_001138501.1	Q9BXX2	AN30B_HUMAN			5	873	+			231					B4DGP1|F8WAG3|Q4G175	Silent	SNP	ENST00000358984.4	37	c.693C>G	CCDS54182.1																																																																																				0.378	ANKRD30B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000443557.1	NM_001145029		3	65	0	0	0	1	0	3	65					G	14757889	C	G	14757889	2	3	16	1	0	0	0	0	0	0	0	1	659	900	32	5		5	ANKRD30B	18	14757889	Silent	SNP	C	TCGA-CH-5741-01A-11D-1576-08		14757889	63319359	48	678											
TTC39C	125488	broad.mit.edu	37	chr18	21663014	21663014	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccaaattcttccctctttaTgtttttcaagggacggatac	9	16	6	10	1	3	0	1	0	2	0	5	2	5	2	2	2	1	1	2	2	4	7			TCGA-CH-5741-01A-11D-1576-08	TCGA-CH-5741-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1be2ab-1f84-46dc-b166-4d703d0e8ffa	3b14c841-4ca0-49a9-b938-de2ebbea8bdf	g.chr18:21663014T>C	ENST00000317571.3	+	6	1189	c.953T>C	c.(952-954)aTg>aCg	p.M318T	TTC39C_ENST00000304621.6_Missense_Mutation_p.M257T|RP11-403A21.3_ENST00000578443.1_RNA	NM_001135993.1	NP_001129465.1	Q8N584	TT39C_HUMAN	tetratricopeptide repeat domain 39C	318								p.M257T(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(1)	19						TCCCTCTTTATGTTTTTCAAG	0.398																																						ENST00000317571.3																			1	Substitution - Missense(1)	p.M257T(1)	prostate(1)	breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(1)	19						c.(952-954)aTg>aCg		tetratricopeptide repeat domain 39C							104	106	105					18																	21663014		2203	4300	6503	SO:0001583	missense	125488						binding	g.chr18:21663014T>C	AK091080	CCDS32804.1, CCDS45839.1, CCDS58616.1	18q11.2	2014-02-07	2008-06-23	2008-06-23	ENSG00000168234	ENSG00000168234		"Tetratricopeptide (TTC) repeat domain containing"	26595	protein-coding gene	gene with protein product			"chromosome 18 open reading frame 17"	C18orf17		14702039	Standard	NM_153211		Approved	FLJ33761, HsT2697	uc002kuw.3	Q8N584	OTTHUMG00000179403	ENST00000317571.3:c.953T>C	18.37:g.21663014T>C	ENSP00000323645:p.Met318Thr					RP11-403A21.3_ENST00000578443.1_RNA|TTC39C_ENST00000304621.6_Missense_Mutation_p.M257T	p.M318T	NM_001135993.1	NP_001129465.1	Q8N584	TT39C_HUMAN			6	1189	+			318					B7WP63|J3QRR1|Q0VAJ2|Q8N284	Missense_Mutation	SNP	ENST00000317571.3	37	c.953T>C	CCDS45839.1	.	.	.	.	.	.	.	.	.	.	T	17.63	3.438218	0.62955	.	.	ENSG00000168234	ENST00000304621;ENST00000317571	T;T	0.75589	-0.95;-0.95	5.8	5.8	0.92144	Tetratricopeptide-like helical (1);	0.034697	0.85682	D	0.000000	T	0.74504	0.3725	L	0.57536	1.79	0.80722	D	1	P	0.36282	0.546	B	0.39027	0.288	T	0.77062	-0.2727	10	0.72032	D	0.01	-18.7183	16.129	0.81412	0.0:0.0:0.0:1.0	.	318	Q8N584	TT39C_HUMAN	T	257;318	ENSP00000306598:M257T;ENSP00000323645:M318T	ENSP00000306598:M257T	M	+	2	0	TTC39C	19917012	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	5.915000	0.69973	2.209000	0.71365	0.455000	0.32223	ATG		0.398	TTC39C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446107.1	NM_153211		71	47	0	0	0	1	0	71	47					C	21663014	T	C	21663014	3	2	16	1	0	0	0	0	1	0	0	0	16706	1464	51	4	975	4	TTC39C	18	21663014	Missense_Mutation	SNP	T	TCGA-CH-5741-01A-11D-1576-08	6905125	21663014	56414234	49	679											
DSG2	1829	broad.mit.edu	37	chr18	29122756	29122756	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gggcttccagagacatggccGgagctcaggcagctgctgtt	7	8	15	11	1	1	1	1	0	0	1	2	3	2	2	2	4	3	6	2	4	0	2			TCGA-CH-5741-01A-11D-1576-08	TCGA-CH-5741-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1be2ab-1f84-46dc-b166-4d703d0e8ffa	3b14c841-4ca0-49a9-b938-de2ebbea8bdf	g.chr18:29122756G>A	ENST00000261590.8	+	14	2484	c.2275G>A	c.(2275-2277)Gga>Aga	p.G759R	RP11-75N4.2_ENST00000583706.1_RNA	NM_001943.3	NP_001934.2	Q14126	DSG2_HUMAN	desmoglein 2	759					apoptotic process (GO:0006915)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cell adhesion (GO:0007155)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|homophilic cell adhesion (GO:0007156)|maternal process involved in female pregnancy (GO:0060135)|regulation of heart rate by cardiac conduction (GO:0086091)|response to progesterone (GO:0032570)|ventricular cardiac muscle cell action potential (GO:0086005)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(2)|prostate(4)|skin(2)|urinary_tract(1)	49			OV - Ovarian serous cystadenocarcinoma(10;0.0068)			AGACATGGCCGGAGCTCAGGC	0.522																																						ENST00000261590.8																			0				breast(2)|central_nervous_system(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(2)|prostate(4)|skin(2)|urinary_tract(1)	49						c.(2275-2277)Gga>Aga		desmoglein 2							73	80	78					18																	29122756		2051	4204	6255	SO:0001583	missense	1829				cellular component disassembly involved in apoptosis|homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding	g.chr18:29122756G>A	Z26317	CCDS42423.1	18q12.1	2014-09-17				ENSG00000046604		"Cadherins / Major cadherins"	3049	protein-coding gene	gene with protein product		125671				1612610	Standard	NM_001943		Approved	CDHF5	uc002kwu.4	Q14126		ENST00000261590.8:c.2275G>A	18.37:g.29122756G>A	ENSP00000261590:p.Gly759Arg					RP11-75N4.2_ENST00000583706.1_RNA	p.G759R	NM_001943.3	NP_001934.2	Q14126	DSG2_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.0068)		14	2484	+			759					Q4KKU6	Missense_Mutation	SNP	ENST00000261590.8	37	c.2275G>A	CCDS42423.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.034358	0.75617	.	.	ENSG00000046604	ENST00000261590	T	0.59772	0.24	5.44	4.57	0.56435	.	0.095343	0.46442	N	0.000300	T	0.40767	0.1130	N	0.22421	0.69	0.80722	D	1	P	0.48162	0.906	B	0.39068	0.289	T	0.40384	-0.9566	10	0.52906	T	0.07	.	10.5854	0.45280	0.1461:0.0:0.8539:0.0	.	759	Q14126	DSG2_HUMAN	R	759	ENSP00000261590:G759R	ENSP00000261590:G759R	G	+	1	0	DSG2	27376754	0.986000	0.35501	0.710000	0.30468	0.012000	0.07955	1.940000	0.40223	1.532000	0.49169	0.655000	0.94253	GGA		0.522	DSG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447506.1	NM_001943		4	170	0	0	0	1	0	4	170					A	29122756	G	A	29122756	3	1	16	1	0	0	0	0	1	0	0	0	4777	1117	39	2	2329	2	DSG2	18	29122756	Missense_Mutation	SNP	G	TCGA-CH-5741-01A-11D-1576-08	7459742	29122756	48954492	50	680											
TBXA2R	6915	broad.mit.edu	37	chr19	3600348	3600348	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cagccagggtccacggcgtgCcactcgaagagcgcggcgtg	7	4	16	14	6	0	1	0	0	0	1	2	2	1	1	3	3	3	0	3	3	1	0			TCGA-CH-5741-01A-11D-1576-08	TCGA-CH-5741-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1be2ab-1f84-46dc-b166-4d703d0e8ffa	3b14c841-4ca0-49a9-b938-de2ebbea8bdf	g.chr19:3600348C>T	ENST00000375190.4	-	2	678	c.285G>A	c.(283-285)tgG>tgA	p.W95*	TBXA2R_ENST00000587717.1_5'Flank|TBXA2R_ENST00000411851.3_Nonsense_Mutation_p.W95*|TBXA2R_ENST00000589966.1_Nonsense_Mutation_p.W95*	NM_001060.5|NM_201636.2	NP_001051.1|NP_963998.2	P21731	TA2R_HUMAN	thromboxane A2 receptor	95					blood coagulation (GO:0007596)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|platelet activation (GO:0030168)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood pressure (GO:0045777)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of GTPase activity (GO:0043547)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of vasoconstriction (GO:0045907)|response to drug (GO:0042493)|response to lipopolysaccharide (GO:0032496)|response to nutrient (GO:0007584)|second-messenger-mediated signaling (GO:0019932)|thromboxane A2 signaling pathway (GO:0038193)	acrosomal vesicle (GO:0001669)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|thromboxane A2 receptor activity (GO:0004961)	p.W95*(1)		kidney(1)|lung(2)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	8		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18)	Ridogrel(DB01207)	CCACGGCGTGCCACTCGAAGA	0.672																																						ENST00000375190.4																			1	Substitution - Nonsense(1)	p.W95*(1)	prostate(1)	kidney(1)|lung(2)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	8						c.(283-285)tgG>tgA		thromboxane A2 receptor	Ridogrel(DB01207)						36	48	44					19																	3600348		2165	4239	6404	SO:0001587	stop_gained	0				platelet activation	integral to plasma membrane	guanyl-nucleotide exchange factor activity|protein binding|thromboxane A2 receptor activity	g.chr19:3600348C>T		CCDS42467.1, CCDS54198.1	19p13.3	2014-09-17						"GPCR / Class A : Prostanoid receptors"	11608	protein-coding gene	gene with protein product		188070				1825698	Standard	NM_001060		Approved		uc021umv.1	P21731		ENST00000375190.4:c.285G>A	19.37:g.3600348C>T	ENSP00000364336:p.Trp95*					TBXA2R_ENST00000411851.3_Nonsense_Mutation_p.W95*|TBXA2R_ENST00000589966.1_Nonsense_Mutation_p.W95*	p.W95*	NM_001060.5|NM_201636.2	NP_001051.1|NP_963998.2	P21731	TA2R_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18)	2	678	-		Hepatocellular(1079;0.137)	95					O75228|Q6DK52|Q9UCY1|Q9UCY2	Nonsense_Mutation	SNP	ENST00000375190.4	37	c.285G>A	CCDS42467.1	.	.	.	.	.	.	.	.	.	.	C	38	6.930385	0.97944	.	.	ENSG00000006638	ENST00000411851;ENST00000375190	.	.	.	4.67	4.67	0.58626	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-26.2664	16.483	0.84163	0.0:1.0:0.0:0.0	.	.	.	.	X	95	.	ENSP00000364336:W95X	W	-	3	0	TBXA2R	3551348	1.000000	0.71417	0.992000	0.48379	0.287000	0.27160	5.666000	0.68059	2.296000	0.77279	0.313000	0.20887	TGG		0.672	TBXA2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453081.2			3	50	0	0	0	1	0	3	50					T	3600348	C	T	3600348	4	4	16	1	0	0	0	0	0	1	0	0	15660	740	26	3	999	3	TBXA2R	19	3600348	Nonsense_Mutation	SNP	C	TCGA-CH-5741-01A-11D-1576-08		3600348	55528635	51	681											
LILRB5	10990	broad.mit.edu	37	chr19	54760066	54760066	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gggagcttctgtgagtacagGgtcctggggagcttctgttc	5	12	16	8	0	2	1	0	1	2	0	4	3	3	3	1	4	3	4	1	4	1	4			TCGA-CH-5741-01A-11D-1576-08	TCGA-CH-5741-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1be2ab-1f84-46dc-b166-4d703d0e8ffa	3b14c841-4ca0-49a9-b938-de2ebbea8bdf	g.chr19:54760066G>T	ENST00000316219.5	-	4	602	c.495C>A	c.(493-495)acC>acA	p.T165T	LILRB5_ENST00000449561.2_Silent_p.T165T|LILRB5_ENST00000345866.6_Intron|LILRB5_ENST00000450632.1_Silent_p.T156T	NM_001081442.1|NM_006840.3	NP_001074911.1|NP_006831.1	O75023	LIRB5_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5	165	Ig-like C2-type 2.				cell surface receptor signaling pathway (GO:0007166)|defense response (GO:0006952)|immune system process (GO:0002376)	integral component of membrane (GO:0016021)	transmembrane signaling receptor activity (GO:0004888)	p.T165T(1)|p.T156T(1)		NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		GTGAGTACAGGGTCCTGGGGA	0.557																																						ENST00000450632.1																			2	Substitution - coding silent(2)	p.T165T(1)|p.T156T(1)	prostate(2)	NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	56						c.(466-468)acC>acA		leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5							61	71	68					19																	54760066		2203	4300	6503	SO:0001819	synonymous_variant	0				cell surface receptor linked signaling pathway|defense response	integral to membrane	transmembrane receptor activity	g.chr19:54760066G>T	AF025534	CCDS12885.1, CCDS42611.1, CCDS46176.1	19q13.4	2013-01-11			ENSG00000105609	ENSG00000105609		"Leukocyte immunoglobulin-like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6609	protein-coding gene	gene with protein product		604814				9548455	Standard	NM_006840		Approved	LIR-8, LIR8, CD85c	uc002qey.3	O75023	OTTHUMG00000066636	ENST00000316219.5:c.495C>A	19.37:g.54760066G>T						LILRB5_ENST00000449561.2_Silent_p.T165T|LILRB5_ENST00000316219.5_Silent_p.T165T|LILRB5_ENST00000345866.6_Intron	p.T156T			O75023	LIRB5_HUMAN		GBM - Glioblastoma multiforme(193;0.105)	4	545	-	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)		165			Ig-like C2-type 2.		Q8N760	Silent	SNP	ENST00000316219.5	37	c.468C>A	CCDS12885.1																																																																																				0.557	LILRB5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000142877.2			57	105	1	0	1.54043e-34	1	1.97368e-34	57	105					T	54760066	G	T	54760066	2	4	16	1	0	0	0	0	0	0	0	1	8794	1219	43	5		5	LILRB5	19	54760066	Silent	SNP	G	TCGA-CH-5741-01A-11D-1576-08	51159718	54760066	4368917	52	682											
TCF15	6939	broad.mit.edu	37	chr20	585299	585299	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcagctgccccccaggtcaCgacggccaccctgcagaggg	8	3	13	17	2	1	1	1	0	0	1	1	2	1	1	5	3	4	3	5	3	0	0			TCGA-CH-5741-01A-11D-1576-08	TCGA-CH-5741-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1be2ab-1f84-46dc-b166-4d703d0e8ffa	3b14c841-4ca0-49a9-b938-de2ebbea8bdf	g.chr20:585299C>A	ENST00000246080.3	-	2	696	c.536G>T	c.(535-537)cGt>cTt	p.R179L		NM_004609.3	NP_004600.2	Q12870	TCF15_HUMAN	transcription factor 15 (basic helix-loop-helix)	179					death (GO:0016265)|ear development (GO:0043583)|eating behavior (GO:0042755)|establishment of epithelial cell apical/basal polarity (GO:0045198)|mesenchymal to epithelial transition (GO:0060231)|mesoderm development (GO:0007498)|muscle organ morphogenesis (GO:0048644)|neuromuscular process controlling posture (GO:0050884)|paraxial mesoderm development (GO:0048339)|post-anal tail morphogenesis (GO:0036342)|regulation of gene expression involved in extracellular matrix organization (GO:1901311)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|respiratory system process (GO:0003016)|skeletal system morphogenesis (GO:0048705)|skin development (GO:0043588)|somitogenesis (GO:0001756)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R179L(1)		autonomic_ganglia(1)|lung(2)|prostate(1)	4		Breast(17;0.231)				CCCCAGGTCACGACGGCCACC	0.607																																						ENST00000246080.3																			1	Substitution - Missense(1)	p.R179L(1)	prostate(1)	autonomic_ganglia(1)|lung(2)|prostate(1)	4						c.(535-537)cGt>cTt		transcription factor 15 (basic helix-loop-helix)							14	16	15					20																	585299		2116	4171	6287	SO:0001583	missense	6939				regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr20:585299C>A		CCDS33432.1	20p13	2013-05-21			ENSG00000125878	ENSG00000125878		"Basic helix-loop-helix proteins"	11627	protein-coding gene	gene with protein product		601010				8825648, 8041747	Standard	NM_004609		Approved	EC2, PARAXIS, bHLHa40	uc002wdz.3	Q12870	OTTHUMG00000031640	ENST00000246080.3:c.536G>T	20.37:g.585299C>A	ENSP00000246080:p.Arg179Leu						p.R179L	NM_004609.3	NP_004600.2	Q12870	TCF15_HUMAN			2	696	-		Breast(17;0.231)	179					Q9NQQ1	Missense_Mutation	SNP	ENST00000246080.3	37	c.536G>T	CCDS33432.1	.	.	.	.	.	.	.	.	.	.	C	15.40	2.822295	0.50739	.	.	ENSG00000125878	ENST00000246080	D	0.96232	-3.95	5.08	5.08	0.68730	.	0.159118	0.43260	D	0.000586	D	0.93488	0.7922	L	0.45051	1.395	0.30535	N	0.76708	P	0.49090	0.919	B	0.40864	0.342	D	0.91110	0.4921	10	0.27082	T	0.32	-2.6733	16.1469	0.81577	0.0:1.0:0.0:0.0	.	179	Q12870	TCF15_HUMAN	L	179	ENSP00000246080:R179L	ENSP00000246080:R179L	R	-	2	0	TCF15	533299	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.133000	0.42093	2.793000	0.96121	0.655000	0.94253	CGT		0.607	TCF15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077475.2	NM_004609		2	3	1	0	1	1	1	2	3					A	585299	C	A	585299	3	1	16	1	0	0	0	0	1	0	0	0	15685	536	19	5	67	5	TCF15	20	585299	Missense_Mutation	SNP	C	TCGA-CH-5741-01A-11D-1576-08		585299	62440221	53	683											
SNAP25	6616	broad.mit.edu	37	chr20	10277647	10277647	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtggccagccagcctgctcGtgtagtggacgaacgggagc	7	6	17	11	3	0	0	0	0	0	0	1	3	0	2	3	4	5	2	3	4	2	1			TCGA-CH-5741-01A-11D-1576-08	TCGA-CH-5741-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1be2ab-1f84-46dc-b166-4d703d0e8ffa	3b14c841-4ca0-49a9-b938-de2ebbea8bdf	g.chr20:10277647G>A	ENST00000254976.2	+	6	567	c.356G>A	c.(355-357)cGt>cAt	p.R119H	SNAP25-AS1_ENST00000453544.1_RNA|SNAP25_ENST00000304886.2_Missense_Mutation_p.R119H|SNAP25_ENST00000495883.1_3'UTR|SNAP25-AS1_ENST00000421143.2_RNA	NM_130811.2	NP_570824.1	P60880	SNP25_HUMAN	synaptosomal-associated protein, 25kDa	119					energy reserve metabolic process (GO:0006112)|glutamate secretion (GO:0014047)|long-term synaptic potentiation (GO:0060291)|neurotransmitter secretion (GO:0007269)|neurotransmitter uptake (GO:0001504)|regulation of establishment of protein localization (GO:0070201)|regulation of insulin secretion (GO:0050796)|regulation of neuron projection development (GO:0010975)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|synaptic vesicle docking involved in exocytosis (GO:0016081)|synaptic vesicle exocytosis (GO:0016079)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|growth cone (GO:0030426)|membrane (GO:0016020)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)|SNARE complex (GO:0031201)|synaptobrevin 2-SNAP-25-syntaxin-1a-complexin I complex (GO:0070032)|trans-Golgi network (GO:0005802)	calcium-dependent protein binding (GO:0048306)	p.R119H(2)		endometrium(1)|large_intestine(2)|lung(8)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	18					Botulinum Toxin Type A(DB00083)	CAGCCTGCTCGTGTAGTGGAC	0.517																																						ENST00000254976.2																			2	Substitution - Missense(2)	p.R119H(2)	prostate(2)	endometrium(1)|large_intestine(2)|lung(8)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	18						c.(355-357)cGt>cAt		synaptosomal-associated protein, 25kDa	Botulinum Toxin Type A(DB00083)						75	71	72					20																	10277647		2203	4300	6503	SO:0001583	missense	6616				energy reserve metabolic process|glutamate secretion|neurotransmitter uptake|synaptic vesicle docking involved in exocytosis	cell junction|growth cone|perinuclear region of cytoplasm|synapse|synaptosome		g.chr20:10277647G>A		CCDS13109.1, CCDS13110.1	20p12-p11.2	2008-08-01	2002-08-29		ENSG00000132639	ENSG00000132639			11132	protein-coding gene	gene with protein product	"resistance to inhibitors of cholinesterase 4 homolog"	600322	"synaptosomal-associated protein, 25kD"	SNAP		8661740, 10692432	Standard	NM_003081		Approved	SNAP-25, RIC-4, RIC4, SEC9, bA416N4.2, dJ1068F16.2	uc002wnr.2	P60880	OTTHUMG00000031863	ENST00000254976.2:c.356G>A	20.37:g.10277647G>A	ENSP00000254976:p.Arg119His					SNAP25-AS1_ENST00000453544.1_RNA|SNAP25_ENST00000495883.1_3'UTR|SNAP25_ENST00000304886.2_Missense_Mutation_p.R119H|SNAP25-AS1_ENST00000421143.2_RNA	p.R119H	NM_130811.2	NP_570824.1	P60880	SNP25_HUMAN			6	567	+			119					B2RAU4|D3DW16|D3DW17|P13795|P36974|P70557|P70558|Q53EM2|Q5U0B5|Q8IXK3|Q96FM2|Q9BR45	Missense_Mutation	SNP	ENST00000254976.2	37	c.356G>A	CCDS13110.1	.	.	.	.	.	.	.	.	.	.	G	15.44	2.834583	0.50951	.	.	ENSG00000132639	ENST00000254976;ENST00000304886	.	.	.	5.86	5.86	0.93980	SNAP-25 (1);	0.000000	0.85682	D	0.000000	T	0.72350	0.3449	M	0.85945	2.785	0.80722	D	1	P;P	0.52316	0.951;0.952	B;P	0.45138	0.299;0.471	T	0.75789	-0.3194	9	0.45353	T	0.12	-2.2047	20.1996	0.98256	0.0:0.0:1.0:0.0	.	119;119	P60880-2;P60880	.;SNP25_HUMAN	H	119	.	ENSP00000254976:R119H	R	+	2	0	SNAP25	10225647	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.818000	0.75257	2.776000	0.95493	0.650000	0.86243	CGT		0.517	SNAP25-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000077976.3	NM_130811		34	49	0	0	0	1	0	34	49					A	10277647	G	A	10277647	3	1	16	1	0	0	0	0	1	0	0	0	14830	1145	40	1	496	1	SNAP25	20	10277647	Missense_Mutation	SNP	G	TCGA-CH-5741-01A-11D-1576-08	9692348	10277647	52747873	54	684											
MMP24	10893	broad.mit.edu	37	chr20	33839802	33839802	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctgactggacagaagtggAggcaaaaacacatcacctac	15	5	9	12	0	1	2	1	1	0	1	1	4	1	4	2	3	2	1	2	3	4	1			TCGA-CH-5741-01A-11D-1576-08	TCGA-CH-5741-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1be2ab-1f84-46dc-b166-4d703d0e8ffa	3b14c841-4ca0-49a9-b938-de2ebbea8bdf	g.chr20:33839802A>G	ENST00000246186.6	+	3	575	c.490A>G	c.(490-492)Agg>Ggg	p.R164G	EDEM2_ENST00000540582.1_Intron|MMP24-AS1_ENST00000454184.1_RNA|MMP24-AS1_ENST00000456350.1_RNA|MMP24-AS1_ENST00000438751.1_RNA|MMP24-AS1_ENST00000433764.1_RNA|MMP24-AS1_ENST00000566203.2_RNA	NM_006690.3	NP_006681.1	Q9Y5R2	MMP24_HUMAN	matrix metallopeptidase 24 (membrane-inserted)	164					cell-cell adhesion (GO:0098609)|cell-cell adhesion mediated by cadherin (GO:0044331)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|glial cell differentiation (GO:0010001)|neuronal stem cell maintenance (GO:0097150)|positive regulation of catalytic activity (GO:0043085)|proteolysis (GO:0006508)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|proteinaceous extracellular matrix (GO:0005578)|trans-Golgi network membrane (GO:0032588)	calcium ion binding (GO:0005509)|enzyme activator activity (GO:0008047)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.R164G(1)		NS(1)|endometrium(3)|large_intestine(1)|lung(2)|prostate(2)|skin(5)	14			BRCA - Breast invasive adenocarcinoma(18;0.00252)		Marimastat(DB00786)	ACAGAAGTGGAGGCAAAAACA	0.552																																						ENST00000246186.6																			1	Substitution - Missense(1)	p.R164G(1)	prostate(1)	NS(1)|endometrium(3)|large_intestine(1)|lung(2)|prostate(2)|skin(5)	14						c.(490-492)Agg>Ggg		matrix metallopeptidase 24 (membrane-inserted)							144	152	149					20																	33839802		2047	4193	6240	SO:0001583	missense	10893				proteolysis	integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding	g.chr20:33839802A>G	AF131284	CCDS46593.1	20q11.2	2008-07-16	2005-08-08		ENSG00000125966	ENSG00000125966			7172	protein-coding gene	gene with protein product	"membrane-type 5 matrix metalloproteinase"	604871	"matrix metalloproteinase 24 (membrane-inserted)"			10363975	Standard	NM_006690		Approved	MT5-MMP	uc002xbu.2	Q9Y5R2	OTTHUMG00000032330	ENST00000246186.6:c.490A>G	20.37:g.33839802A>G	ENSP00000246186:p.Arg164Gly					MMP24-AS1_ENST00000456350.1_RNA|MMP24-AS1_ENST00000454184.1_RNA|MMP24-AS1_ENST00000438751.1_RNA|MMP24-AS1_ENST00000433764.1_RNA|MMP24-AS1_ENST00000566203.1_RNA|EDEM2_ENST00000540582.1_Intron	p.R164G	NM_006690.3	NP_006681.1	Q9Y5R2	MMP24_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.00252)		3	575	+			164					B7ZBG8|Q9H440	Missense_Mutation	SNP	ENST00000246186.6	37	c.490A>G	CCDS46593.1	.	.	.	.	.	.	.	.	.	.	A	16.39	3.110402	0.56398	.	.	ENSG00000125966	ENST00000246186;ENST00000540655	T	0.21734	1.99	5.04	3.94	0.45596	Peptidase M10, metallopeptidase (1);Peptidase, metallopeptidase (1);Metallopeptidase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.19167	0.0460	L	0.43598	1.365	0.58432	D	0.999999	B	0.06786	0.001	B	0.15052	0.012	T	0.02837	-1.1104	10	0.51188	T	0.08	.	11.4729	0.50280	0.8493:0.1506:0.0:0.0	.	164	Q9Y5R2	MMP24_HUMAN	G	164;112	ENSP00000246186:R164G	ENSP00000246186:R164G	R	+	1	2	MMP24	33303218	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.539000	0.45718	0.924000	0.37069	0.533000	0.62120	AGG		0.552	MMP24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078851.4	NM_006690		4	121	0	0	0	1	0	4	121					G	33839802	A	G	33839802	3	3	16	1	0	0	0	0	1	0	0	0	9661	295	11	4	250	4	MMP24	20	33839802	Missense_Mutation	SNP	A	TCGA-CH-5741-01A-11D-1576-08	23562155	33839802	29185718	55	685											
SHROOM2	357	broad.mit.edu	37	chrX	9912815	9912815	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgaaaggcgtctgcaagccCagcgagtttgacaagttccg	10	8	13	10	3	1	2	0	2	1	0	2	3	2	2	2	1	3	3	2	1	3	2			TCGA-CH-5741-01A-11D-1576-08	TCGA-CH-5741-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1be2ab-1f84-46dc-b166-4d703d0e8ffa	3b14c841-4ca0-49a9-b938-de2ebbea8bdf	g.chrX:9912815C>T	ENST00000380913.3	+	9	4536	c.4446C>T	c.(4444-4446)ccC>ccT	p.P1482P	SHROOM2_ENST00000418909.2_Silent_p.P317P	NM_001649.2	NP_001640.1	Q13796	SHRM2_HUMAN	shroom family member 2	1482	ASD2. {ECO:0000255|PROSITE- ProRule:PRU00638}.				apical protein localization (GO:0045176)|brain development (GO:0007420)|camera-type eye development (GO:0043010)|camera-type eye morphogenesis (GO:0048593)|cell migration (GO:0016477)|cell-cell junction maintenance (GO:0045217)|cellular pigment accumulation (GO:0043482)|ear development (GO:0043583)|establishment of melanosome localization (GO:0032401)|eye pigment granule organization (GO:0008057)|lens morphogenesis in camera-type eye (GO:0002089)|melanosome organization (GO:0032438)|negative regulation of actin filament depolymerization (GO:0030835)|sodium ion transmembrane transport (GO:0035725)	apical plasma membrane (GO:0016324)|cell cortex (GO:0005938)|cell-cell adherens junction (GO:0005913)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|microtubule (GO:0005874)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|beta-catenin binding (GO:0008013)|ligand-gated sodium channel activity (GO:0015280)	p.P1482P(1)		breast(4)|central_nervous_system(2)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	57		Hepatocellular(5;0.000888)				TCTGCAAGCCCAGCGAGTTTG	0.647																																						ENST00000380913.3																			1	Substitution - coding silent(1)	p.P1482P(1)	prostate(1)	breast(4)|central_nervous_system(2)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	57						c.(4444-4446)ccC>ccT		shroom family member 2							81	65	70					X																	9912815		2203	4300	6503	SO:0001819	synonymous_variant	357				apical protein localization|brain development|cell migration|cell morphogenesis|cellular pigment accumulation|ear development|establishment of melanosome localization|eye pigment granule organization|lens morphogenesis in camera-type eye|melanosome organization	apical plasma membrane|cell-cell adherens junction|microtubule|tight junction	actin filament binding|beta-catenin binding|ligand-gated sodium channel activity	g.chrX:9912815C>T	X83543	CCDS14135.1	Xp22.3	2008-02-05	2006-07-20	2006-07-20	ENSG00000146950	ENSG00000146950			630	protein-coding gene	gene with protein product		300103	"apical protein, Xenopus laevis-like", "apical protein-like (Xenopus laevis)"	APXL		7795590, 16615870	Standard	NM_001649		Approved		uc004csu.1	Q13796	OTTHUMG00000021121	ENST00000380913.3:c.4446C>T	X.37:g.9912815C>T						SHROOM2_ENST00000418909.2_Silent_p.P317P	p.P1482P	NM_001649.2	NP_001640.1	Q13796	SHRM2_HUMAN			9	4536	+		Hepatocellular(5;0.000888)	1482			ASD2.		B9EIQ7	Silent	SNP	ENST00000380913.3	37	c.4446C>T	CCDS14135.1																																																																																				0.647	SHROOM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055721.1	NM_001649		3	42	0	0	0	1	0	3	42					T	9912815	C	T	9912815	2	4	16	1	0	0	0	0	0	0	0	1	14294	581	21	3		3	SHROOM2	23	9912815	Silent	SNP	C	TCGA-CH-5741-01A-11D-1576-08		9912815	145357745	56	686											
GPR64	10149	broad.mit.edu	37	chrX	19026198	19026199	+	Frame_Shift_Ins	INS	-	-	T																															cagcgatgaaggaagagtaaINSttgtgccaatactgttctca																										TCGA-CH-5741-01A-11D-1576-08	TCGA-CH-5741-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1be2ab-1f84-46dc-b166-4d703d0e8ffa	3b14c841-4ca0-49a9-b938-de2ebbea8bdf	g.chrX:19026198_19026199insT	ENST00000379869.3	-	19	1628_1629	c.1465_1466insA	c.(1465-1467)attfs	p.I489fs	GPR64_ENST00000360279.4_Frame_Shift_Ins_p.I467fs|GPR64_ENST00000340581.3_Intron|GPR64_ENST00000379878.3_Frame_Shift_Ins_p.I473fs|GPR64_ENST00000357544.3_Frame_Shift_Ins_p.I459fs|GPR64_ENST00000356606.4_Frame_Shift_Ins_p.I475fs|GPR64_ENST00000379876.1_Frame_Shift_Ins_p.I465fs|GPR64_ENST00000354791.3_Frame_Shift_Ins_p.I473fs|GPR64_ENST00000379873.2_Frame_Shift_Ins_p.I489fs|GPR64_ENST00000357991.3_Frame_Shift_Ins_p.I486fs	NM_001079858.2|NM_005756.3	NP_001073327.1|NP_005747.2	Q8IZP9	GPR64_HUMAN	G protein-coupled receptor 64	489					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)|spermatogenesis (GO:0007283)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)			breast(5)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(18)|stomach(1)|urinary_tract(1)	42	Hepatocellular(33;0.183)					AGGAAGAGTAATTGTGCCAATA	0.391																																						ENST00000354791.3																			0				breast(5)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(18)|stomach(1)|urinary_tract(1)	42						c.(1417-1419)tacfs		G protein-coupled receptor 64																																				SO:0001589	frameshift_variant	10149				neuropeptide signaling pathway|spermatogenesis	cytoplasm|integral to plasma membrane	G-protein coupled receptor activity	g.chrX:19026198_19026199insT	X81892	CCDS14191.1, CCDS43921.1, CCDS43922.1, CCDS43923.1, CCDS55376.1, CCDS55377.1, CCDS55378.1, CCDS55379.1	Xp22.13	2014-08-08			ENSG00000173698	ENSG00000173698		"-", "GPCR / Class B : Orphans"	4516	protein-coding gene	gene with protein product	"epididymal protein 6"	300572				9739419, 9150425	Standard	NM_005756		Approved	HE6, TM7LN2, EDDM6	uc004cyx.3	Q8IZP9	OTTHUMG00000021223	ENST00000379869.3:c.1466dupA	X.37:g.19026200_19026200dupT	ENSP00000369198:p.Ile489fs					GPR64_ENST00000379873.2_Frame_Shift_Ins_p.Y489fs|GPR64_ENST00000379876.1_Frame_Shift_Ins_p.Y465fs|GPR64_ENST00000356606.4_Frame_Shift_Ins_p.Y475fs|GPR64_ENST00000340581.3_Intron|GPR64_ENST00000379878.3_Frame_Shift_Ins_p.Y473fs|GPR64_ENST00000357544.3_Frame_Shift_Ins_p.Y459fs|GPR64_ENST00000360279.4_Frame_Shift_Ins_p.Y467fs|GPR64_ENST00000357991.3_Frame_Shift_Ins_p.Y486fs|GPR64_ENST00000379869.3_Frame_Shift_Ins_p.Y489fs	p.Y473fs			Q8IZP9	GPR64_HUMAN			18	1658_1659	-	Hepatocellular(33;0.183)		489					B1AWB3|B1AWB4|B1AWB6|B1AWB7|O00406|Q14CE0|Q8IWT2|Q8IZE4|Q8IZE5|Q8IZE6|Q8IZE7|Q8IZP3|Q8IZP4	Frame_Shift_Ins	INS	ENST00000379869.3	37	c.1417_1418insA	CCDS43923.1																																																																																				0.391	GPR64-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000055970.2			91	23						91	23	---	---	---	---	T	19026199	-	T	19026198	7	5	16	1	0	1	1	0	0	0	0	0	6705	101	4	0	1631	0	GPR64	23	19026198	Frame_Shift_Ins	INS	-	TCGA-CH-5741-01A-11D-1576-08	9113383	19026198	136244362	57	687											
ZMYM3	9203	broad.mit.edu	37	chrX	70471027	70471027	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acttcctcaaatcctacttaCtgctctcagtggaatctaca	11	13	4	13	0	3	0	2	0	2	0	6	1	5	1	2	1	4	1	2	1	5	4			TCGA-CH-5741-01A-11D-1576-08	TCGA-CH-5741-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1be2ab-1f84-46dc-b166-4d703d0e8ffa	3b14c841-4ca0-49a9-b938-de2ebbea8bdf	g.chrX:70471027C>A	ENST00000353904.2	-	4	966		c.e4+1		ZMYM3_ENST00000373978.1_Splice_Site|ZMYM3_ENST00000373981.1_Splice_Site|ZMYM3_ENST00000489332.1_Splice_Site|ZMYM3_ENST00000314425.5_Splice_Site|ZMYM3_ENST00000373988.1_Splice_Site|ZMYM3_ENST00000373998.1_Splice_Site|ZMYM3_ENST00000373984.3_Splice_Site|ZMYM3_ENST00000373982.1_Splice_Site	NM_005096.3	NP_005087.1	Q14202	ZMYM3_HUMAN	zinc finger, MYM-type 3						cytoskeleton organization (GO:0007010)|multicellular organismal development (GO:0007275)|regulation of cell morphogenesis (GO:0022604)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.?(1)		breast(1)|central_nervous_system(7)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(17)|ovary(1)|prostate(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(35;0.156)					ATCCTACTTACTGCTCTCAGT	0.532																																						ENST00000373998.1																			1	Unknown(1)	p.?(1)	prostate(1)	breast(1)|central_nervous_system(7)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(17)|ovary(1)|prostate(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						c.e4+1		zinc finger, MYM-type 3							143	121	128					X																	70471027		2203	4300	6503	SO:0001630	splice_region_variant	9203				multicellular organismal development	nucleus	DNA binding|zinc ion binding	g.chrX:70471027C>A	AB002383	CCDS14409.1, CCDS55443.1, CCDS55444.1	Xq13.1	2013-01-08	2005-12-19	2005-12-19	ENSG00000147130	ENSG00000147130		"Zinc fingers, MYM type"	13054	protein-coding gene	gene with protein product		300061	"zinc finger protein 261"	ZNF261		10486218	Standard	NM_201599		Approved	ZNF198L2, DXS6673E, KIAA0385, MYM	uc004dzh.2	Q14202	OTTHUMG00000021799	ENST00000353904.2:c.778+1G>T	X.37:g.70471027C>A						ZMYM3_ENST00000373981.1_Splice_Site|ZMYM3_ENST00000373984.3_Splice_Site|ZMYM3_ENST00000373978.1_Splice_Site|ZMYM3_ENST00000353904.2_Splice_Site|ZMYM3_ENST00000373988.1_Splice_Site|ZMYM3_ENST00000489332.1_Splice_Site|ZMYM3_ENST00000373982.1_Splice_Site|ZMYM3_ENST00000314425.5_Splice_Site		NM_001171162.1	NP_001164633.1	Q14202	ZMYM3_HUMAN			4	1476	-	Renal(35;0.156)							D3DVV3|O15089|Q96E26	Splice_Site	SNP	ENST00000353904.2	37		CCDS14409.1	.	.	.	.	.	.	.	.	.	.	C	18.50	3.637565	0.67130	.	.	ENSG00000147130	ENST00000314425;ENST00000373998;ENST00000353904;ENST00000373984;ENST00000373988;ENST00000373982;ENST00000373981;ENST00000373978	.	.	.	4.6	4.6	0.57074	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.7966	0.85603	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ZMYM3	70387752	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.844000	0.62846	2.139000	0.66308	0.519000	0.50382	.		0.532	ZMYM3-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000057154.1	NM_201599	Intron	65	15	1	0	1.52808e-22	1	1.92773e-22	65	15					A	70471027	C	A	70471027	5	1	16	1	0	0	0	0	0	0	1	0	17698	579	20	5	3439	5	ZMYM3	23	70471027	Splice_Site	SNP	C	TCGA-CH-5741-01A-11D-1576-08	51444829	70471027	84799533	58	688											
OGT	8473	broad.mit.edu	37	chrX	70767813	70767813	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttgcagtagcttggagtaaTcttggctgtgttttcaatgc	7	17	11	6	0	2	0	1	0	1	0	2	1	2	1	0	2	3	6	0	2	3	7	rs200109331		TCGA-CH-5741-01A-11D-1576-08	TCGA-CH-5741-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1be2ab-1f84-46dc-b166-4d703d0e8ffa	3b14c841-4ca0-49a9-b938-de2ebbea8bdf	g.chrX:70767813T>G	ENST00000373719.3	+	5	805	c.588T>G	c.(586-588)aaT>aaG	p.N196K	OGT_ENST00000373701.3_Missense_Mutation_p.N186K	NM_181672.2|NM_181673.2	NP_858058.1|NP_858059.1	O15294	OGT1_HUMAN	O-linked N-acetylglucosamine (GlcNAc) transferase	196					apoptotic process (GO:0006915)|cellular response to retinoic acid (GO:0071300)|chromatin organization (GO:0006325)|circadian regulation of gene expression (GO:0032922)|histone H3-K4 trimethylation (GO:0080182)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)|negative regulation of protein ubiquitination (GO:0031397)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of catalytic activity (GO:0043085)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of histone H3-K27 methylation (GO:0061087)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of proteolysis (GO:0045862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein O-linked glycosylation (GO:0006493)|regulation of gluconeogenesis involved in cellular glucose homeostasis (GO:0090526)|regulation of glycolytic process (GO:0006110)|regulation of insulin receptor signaling pathway (GO:0046626)|regulation of Rac protein signal transduction (GO:0035020)|response to insulin (GO:0032868)|response to nutrient (GO:0007584)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|histone acetyltransferase complex (GO:0000123)|microtubule organizing center (GO:0005815)|mitochondrion (GO:0005739)|MLL5-L complex (GO:0070688)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	acetylglucosaminyltransferase activity (GO:0008375)|enzyme activator activity (GO:0008047)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|protein N-acetylglucosaminyltransferase activity (GO:0016262)|protein O-GlcNAc transferase activity (GO:0097363)	p.N196K(1)|p.N186K(1)		breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|liver(3)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Renal(35;0.156)					CTTGGAGTAATCTTGGCTGTG	0.378																																						ENST00000373719.3																			2	Substitution - Missense(2)	p.N196K(1)|p.N186K(1)	prostate(2)	breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|liver(3)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						c.(586-588)aaT>aaG		O-linked N-acetylglucosamine (GlcNAc) transferase							145	134	138					X																	70767813		2203	4300	6503	SO:0001583	missense	8473				cellular response to retinoic acid|positive regulation of granulocyte differentiation|positive regulation of histone H3-K4 methylation|positive regulation of proteolysis|protein O-linked glycosylation|signal transduction	cytosol|MLL5-L complex	enzyme activator activity|protein binding|protein N-acetylglucosaminyltransferase activity	g.chrX:70767813T>G	U77413	CCDS14414.1, CCDS35502.1	Xq13	2013-07-24	2012-05-04		ENSG00000147162	ENSG00000147162	2.4.1.255	"Tetratricopeptide (TTC) repeat domain containing"	8127	protein-coding gene	gene with protein product	"UDP-N-acetylglucosamine:polypeptide-N-acetylglucosaminyl transferase"	300255	"O-linked N-acetylglucosamine (GlcNAc) transferase (UDP-N-acetylglucosamine:polypeptide-N-acetylglucosaminyl transferase)"			9083068	Standard	NM_181672		Approved	O-GLCNAC, HRNT1, MGC22921, FLJ23071	uc004eaa.2	O15294	OTTHUMG00000033316	ENST00000373719.3:c.588T>G	X.37:g.70767813T>G	ENSP00000362824:p.Asn196Lys					OGT_ENST00000373701.3_Missense_Mutation_p.N186K	p.N196K	NM_181672.2|NM_181673.2	NP_858058.1|NP_858059.1	O15294	OGT1_HUMAN			5	805	+	Renal(35;0.156)		196					Q7Z3K0|Q8WWM8|Q96CC1|Q9UG57	Missense_Mutation	SNP	ENST00000373719.3	37	c.588T>G	CCDS14414.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	t|t	18.16|18.16	3.562560|3.562560	0.65538|0.65538	.|.	.|.	ENSG00000147162|ENSG00000147162	ENST00000455587|ENST00000373719;ENST00000373701	.|T;T	.|0.69306	.|-0.39;-0.39	5.07|5.07	5.07|5.07	0.68467|0.68467	.|Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.77054|0.77054	0.4074|0.4074	M|M	0.62723|0.62723	1.935|1.935	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|1.0;0.98;1.0	.|D;P;D	.|0.97110	.|0.998;0.693;1.0	T|T	0.78094|0.78094	-0.2338|-0.2338	5|10	.|0.56958	.|D	.|0.05	-5.9626|-5.9626	9.2858|9.2858	0.37755|0.37755	0.0:0.0844:0.0:0.9156|0.0:0.0844:0.0:0.9156	.|.	.|70;186;196	.|Q548W1;O15294-3;O15294	.|.;.;OGT1_HUMAN	S|K	156|196;186	.|ENSP00000362824:N196K;ENSP00000362805:N186K	.|ENSP00000362805:N186K	I|N	+|+	2|3	0|2	OGT|OGT	70684538|70684538	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	2.894000|2.894000	0.48640|0.48640	1.878000|1.878000	0.54408|0.54408	0.478000|0.478000	0.44815|0.44815	ATC|AAT		0.378	OGT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000081829.3	NM_003605, NM_181672		9	189	0	0	0	1	0	9	189					G	70767813	T	G	70767813	3	3	16	1	0	0	0	0	1	0	0	0	10847	1432	50	5	606	5	OGT	23	70767813	Missense_Mutation	SNP	T	TCGA-CH-5741-01A-11D-1576-08	296786	70767813	84502747	59	689											
TNNI3K	100526835	broad.mit.edu	37	chr1	74808773	74808773	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	atctagggcatgctacaatgGcaaatttgaagttgccaagg	13	10	11	7	0	1	1	0	1	1	0	1	1	1	1	1	3	3	4	1	3	6	4			TCGA-CH-5743-01A-21D-1576-08	TCGA-CH-5743-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fac8ffea-e7f8-41d3-889f-dd24cf5dcd64	d6bb9600-d340-45e4-aac0-08db7c5ea4e8	g.chr1:74808773G>A	ENST00000370899.3	+	11	1182	c.1145G>A	c.(1144-1146)gGc>gAc	p.G382D	RP11-439H8.4_ENST00000415549.2_RNA|FPGT-TNNI3K_ENST00000370895.1_Missense_Mutation_p.G382D|FPGT-TNNI3K_ENST00000557284.2_Missense_Mutation_p.G395D|TNNI3K_ENST00000370891.2_Missense_Mutation_p.G382D|TNNI3K_ENST00000326637.3_Missense_Mutation_p.G281D	NM_001199327.1	NP_001186256			FPGT-TNNI3K readthrough									p.G281D(1)									TGCTACAATGGCAAATTTGAA	0.348																																						ENST00000370895.1																			1	Substitution - Missense(1)	p.G281D(1)	prostate(1)								c.(1144-1146)gGc>gAc									74	74	74					1																	74808773		2203	4300	6503	SO:0001583	missense	0					cytoplasm|nucleus	ATP binding|metal ion binding|protein C-terminus binding|protein serine/threonine kinase activity|troponin I binding	g.chr1:74808773G>A			1p31.3	2014-03-14			ENSG00000259030	ENSG00000259030			42952	other	readthrough							Standard	NM_001112808		Approved		uc001dge.2		OTTHUMG00000166281	ENST00000370899.3:c.1145G>A	1.37:g.74808773G>A	ENSP00000359936:p.Gly382Asp					TNNI3K_ENST00000326637.3_Missense_Mutation_p.G281D|FPGT-TNNI3K_ENST00000370899.3_Missense_Mutation_p.G382D|RP11-439H8.4_ENST00000415549.2_RNA|FPGT-TNNI3K_ENST00000557284.1_Missense_Mutation_p.G382D|TNNI3K_ENST00000370891.2_Missense_Mutation_p.G382D	p.G382D			Q59H18	TNI3K_HUMAN			11	1180	+			281						Missense_Mutation	SNP	ENST00000370899.3	37	c.1145G>A		.	.	.	.	.	.	.	.	.	.	G	27.3	4.822584	0.90873	.	.	ENSG00000259030;ENSG00000259030;ENSG00000259030;ENSG00000116783;ENSG00000116783	ENST00000370899;ENST00000370895;ENST00000557284;ENST00000370891;ENST00000326637	T;T;T;T;T	0.73897	-0.57;-0.57;-0.79;-0.79;-0.57	5.63	5.63	0.86233	Ankyrin repeat-containing domain (3);	0.000000	0.85682	D	0.000000	D	0.85093	0.5618	M	0.80332	2.49	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.99;0.985;0.979;1.0	T	0.82955	-0.0200	10	0.37606	T	0.19	.	19.6926	0.96008	0.0:0.0:1.0:0.0	.	281;382;382;382	Q59H18;Q59H18-1;Q59H18-4;Q59H18-3	TNI3K_HUMAN;.;.;.	D	382;382;382;382;281	ENSP00000359936:G382D;ENSP00000359932:G382D;ENSP00000450895:G382D;ENSP00000359928:G382D;ENSP00000322251:G281D	ENSP00000322251:G281D	G	+	2	0	RP11-653A5.2;AC093158.1	74581361	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.343000	0.97047	2.676000	0.91093	0.555000	0.69702	GGC		0.348	FPGT-TNNI3K-003	NOVEL	basic|appris_candidate|readthrough_transcript|exp_conf	protein_coding	protein_coding	OTTHUMT00000026438.3			4	94	0	0	0	0.150653	0	4	94					A	74808773	G	A	74808773	3	1	17	1	0	0	0	0	1	0	0	0	16326	1203	42	3	1231	3	TNNI3K	1	74808773	Missense_Mutation	SNP	G	TCGA-CH-5743-01A-21D-1576-08		74808773	174441848	1	690											
HSD17B12	51144	broad.mit.edu	37	chr11	43876382	43876382	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aaacagtcggcctgcaatccCgaaccaatggatacctgatc	13	7	8	13	2	0	1	0	1	0	0	3	3	1	2	4	2	4	1	4	2	5	1			TCGA-CH-5743-01A-21D-1576-08	TCGA-CH-5743-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fac8ffea-e7f8-41d3-889f-dd24cf5dcd64	d6bb9600-d340-45e4-aac0-08db7c5ea4e8	g.chr11:43876382C>A	ENST00000278353.4	+	10	921	c.802C>A	c.(802-804)Cga>Aga	p.R268R	RP11-613D13.5_ENST00000530450.1_RNA	NM_016142.2	NP_057226.1	Q53GQ0	DHB12_HUMAN	hydroxysteroid (17-beta) dehydrogenase 12	268					cellular lipid metabolic process (GO:0044255)|estrogen biosynthetic process (GO:0006703)|extracellular matrix organization (GO:0030198)|fatty acid biosynthetic process (GO:0006633)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|positive regulation of cell-substrate adhesion (GO:0010811)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum membrane (GO:0005789)|extracellular matrix (GO:0031012)|integral component of membrane (GO:0016021)	estradiol 17-beta-dehydrogenase activity (GO:0004303)|heparin binding (GO:0008201)			endometrium(2)|large_intestine(4)|lung(4)	10						CCTGCAATCCCGAACCAATGG	0.438																																					Ovarian(58;548 1143 13948 16572 34258)	ENST00000278353.4																			0				endometrium(2)|large_intestine(4)|lung(4)	10						c.(802-804)Cga>Aga		hydroxysteroid (17-beta) dehydrogenase 12							76	76	76					11																	43876382		2203	4300	6503	SO:0001819	synonymous_variant	51144				long-chain fatty-acyl-CoA biosynthetic process|steroid biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane	estradiol 17-beta-dehydrogenase activity|long-chain-3-hydroxyacyl-CoA dehydrogenase activity	g.chr11:43876382C>A	AF078850	CCDS7905.1	11q11	2011-09-20				ENSG00000149084	1.1.1.62	"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3"	18646	protein-coding gene	gene with protein product	"3-ketoacyl-CoA reductase", "short chain dehydrogenase/reductase family 12C, member 1"	609574				12482854, 19027726	Standard	NM_016142		Approved	KAR, SDR12C1	uc001mxq.4	Q53GQ0		ENST00000278353.4:c.802C>A	11.37:g.43876382C>A						RP11-613D13.5_ENST00000530450.1_RNA	p.R268R	NM_016142.2	NP_057226.1	Q53GQ0	DHB12_HUMAN			10	921	+			268					A8K9B0|D3DR23|Q96EA9|Q96JU2|Q9Y6G8	Silent	SNP	ENST00000278353.4	37	c.802C>A	CCDS7905.1																																																																																				0.438	HSD17B12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389594.1			3	111	1	0	0.115264	0.115264	0.139963	3	111					A	43876382	C	A	43876382	2	1	17	1	0	0	0	0	0	0	0	1	7381	644	23	5		5	HSD17B12	11	43876382	Silent	SNP	C	TCGA-CH-5743-01A-21D-1576-08		43876382	91130134	2	691											
FANCM	57697	broad.mit.edu	37	chr14	45605353	45605353	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagccctggcagctccaaggCgcctttgccagcagcagcgg	7	5	14	15	2	0	0	0	0	0	0	1	1	1	0	4	3	6	4	4	3	1	1			TCGA-CH-5743-01A-21D-1576-08	TCGA-CH-5743-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fac8ffea-e7f8-41d3-889f-dd24cf5dcd64	d6bb9600-d340-45e4-aac0-08db7c5ea4e8	g.chr14:45605353C>A	ENST00000267430.5	+	1	204	c.119C>A	c.(118-120)gCg>gAg	p.A40E	FANCM_ENST00000556036.1_Missense_Mutation_p.A40E|FKBP3_ENST00000396062.3_5'Flank|FKBP3_ENST00000216330.3_5'Flank|FANCM_ENST00000542564.2_Missense_Mutation_p.A40E	NM_020937.2	NP_065988.1	Q8IYD8	FANCM_HUMAN	Fanconi anemia, complementation group M	40					DNA repair (GO:0006281)|replication fork processing (GO:0031297)|resolution of meiotic recombination intermediates (GO:0000712)	FANCM-MHF complex (GO:0071821)|Fanconi anaemia nuclear complex (GO:0043240)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|nuclease activity (GO:0004518)	p.A40E(1)		breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	85						AGCTCCAAGGCGCCTTTGCCA	0.607								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																													ENST00000267430.5																			1	Substitution - Missense(1)	p.A40E(1)	prostate(1)	breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	85						c.(118-120)gCg>gAg	Involved in tolerance or repair of DNA crosslinks	Fanconi anemia, complementation group M							50	50	50					14																	45605353		2203	4299	6502	SO:0001583	missense	57697	Fanconi Anemia	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	DNA repair	Fanconi anaemia nuclear complex	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|nuclease activity|protein binding	g.chr14:45605353C>A	AK001672	CCDS32070.1	14q21.3	2014-09-17	2005-09-01	2005-09-01		ENSG00000187790		"Fanconi anemia, complementation groups"	23168	protein-coding gene	gene with protein product		609644	"KIAA1596"	KIAA1596		10997877, 16116422	Standard	NM_020937		Approved	FAAP250	uc001wwd.4	Q8IYD8		ENST00000267430.5:c.119C>A	14.37:g.45605353C>A	ENSP00000267430:p.Ala40Glu					FANCM_ENST00000542564.2_Missense_Mutation_p.A40E|FANCM_ENST00000556036.1_Missense_Mutation_p.A40E	p.A40E	NM_020937.2	NP_065988.1	Q8IYD8	FANCM_HUMAN			1	204	+			40					B2RTQ9|Q3YFH9|Q8N9X6|Q9HCH6	Missense_Mutation	SNP	ENST00000267430.5	37	c.119C>A	CCDS32070.1	.	.	.	.	.	.	.	.	.	.	C	13.50	2.256263	0.39896	.	.	ENSG00000187790	ENST00000556036;ENST00000267430;ENST00000542564	T;T;T	0.11930	2.73;2.78;2.78	4.99	4.04	0.47022	.	1.142320	0.06677	N	0.767302	T	0.14227	0.0344	L	0.51422	1.61	0.09310	N	1	B;B;B	0.28552	0.215;0.215;0.034	B;B;B	0.26094	0.056;0.056;0.066	T	0.35375	-0.9791	10	0.07175	T	0.84	.	12.5126	0.56013	0.0:0.8304:0.1695:0.0	.	40;40;40	B2RTQ9;Q8IYD8;Q8IYD8-2	.;FANCM_HUMAN;.	E	40	ENSP00000450596:A40E;ENSP00000267430:A40E;ENSP00000442493:A40E	ENSP00000267430:A40E	A	+	2	0	FANCM	44675103	0.001000	0.12720	0.051000	0.19133	0.587000	0.36485	0.935000	0.28924	2.311000	0.77944	0.462000	0.41574	GCG		0.607	FANCM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410474.1	XM_048128		4	83	1	0	0.150653	0.150653	0.170741	4	83					A	45605353	C	A	45605353	3	1	17	1	0	0	0	0	1	0	0	0	5671	768	27	5	121	5	FANCM	14	45605353	Missense_Mutation	SNP	C	TCGA-CH-5743-01A-21D-1576-08		45605353	61744187	3	692											
FAM189B	10712	broad.mit.edu	37	chr1	155218031	155218031	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gccgtttctcggctgaccggGcacgtagcaacttgggggaa	7	8	15	11	4	1	1	0	1	1	0	2	2	1	2	2	4	2	5	2	4	3	3			TCGA-CH-5744-01A-11D-1576-08	TCGA-CH-5744-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e46606-ecb4-4a53-acaf-e9e46855fe4d	84029535-3038-490b-b904-910d79fce5c8	g.chr1:155218031G>A	ENST00000361361.2	-	11	2152	c.1643C>T	c.(1642-1644)gCc>gTc	p.A548V	FAM189B_ENST00000368368.3_Missense_Mutation_p.A530V|FAM189B_ENST00000472550.1_5'Flank|FAM189B_ENST00000350210.2_Missense_Mutation_p.A452V	NM_006589.2	NP_006580.2	P81408	F189B_HUMAN	family with sequence similarity 189, member B	548						integral component of membrane (GO:0016021)	WW domain binding (GO:0050699)	p.A548V(1)		breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	23						GGCTGACCGGGCACGTAGCAA	0.627																																						ENST00000361361.2																			1	Substitution - Missense(1)	p.A548V(1)	prostate(1)	breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	23						c.(1642-1644)gCc>gTc		family with sequence similarity 189, member B							20	26	24					1																	155218031		2203	4300	6503	SO:0001583	missense	10712					integral to membrane	WW domain binding	g.chr1:155218031G>A	AF070550	CCDS1103.1, CCDS1104.1, CCDS58035.1	1q21	2009-07-09	2009-07-09	2009-07-09	ENSG00000160767	ENSG00000160767			1233	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 2"	C1orf2		9331372	Standard	NM_006589		Approved	cote1	uc001fjm.3	P81408	OTTHUMG00000035844	ENST00000361361.2:c.1643C>T	1.37:g.155218031G>A	ENSP00000354958:p.Ala548Val					FAM189B_ENST00000368368.3_Missense_Mutation_p.A530V|FAM189B_ENST00000350210.2_Missense_Mutation_p.A452V	p.A548V	NM_006589.2	NP_006580.2	P81408	F189B_HUMAN			11	2152	-			548					B1AVS5|Q8IXL3|Q9BR66	Missense_Mutation	SNP	ENST00000361361.2	37	c.1643C>T	CCDS1103.1	.	.	.	.	.	.	.	.	.	.	G	17.26	3.343660	0.61073	.	.	ENSG00000160767	ENST00000350210;ENST00000368368;ENST00000361361;ENST00000323361;ENST00000491082	T;T;T;T	0.03242	4.0;4.0;4.0;4.0	4.4	4.4	0.53042	.	0.509560	0.19341	N	0.116643	T	0.03136	0.0092	N	0.08118	0	0.28881	N	0.894393	D;D;D;D	0.76494	0.999;0.993;0.996;0.993	D;D;D;D	0.80764	0.994;0.956;0.98;0.956	T	0.45160	-0.9280	10	0.66056	D	0.02	.	12.7254	0.57168	0.0:0.0:1.0:0.0	.	313;530;452;548	B1AVS2;B1AVS5;P81408-2;P81408	.;.;.;F189B_HUMAN	V	452;530;548;231;270	ENSP00000307128:A452V;ENSP00000357352:A530V;ENSP00000354958:A548V;ENSP00000427011:A270V	ENSP00000323164:A231V	A	-	2	0	FAM189B	153484655	1.000000	0.71417	0.996000	0.52242	0.815000	0.46073	4.242000	0.58714	2.453000	0.82957	0.549000	0.68633	GCC		0.627	FAM189B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087224.1	NM_006589		3	48	0	0	0	1	0	3	48					A	155218031	G	A	155218031	3	1	18	1	0	0	0	0	1	0	0	0	5517	1203	42	3	371	3	FAM189B	1	155218031	Missense_Mutation	SNP	G	TCGA-CH-5744-01A-11D-1576-08		155218031	94032590	1	693											
PAPPA2	60676	broad.mit.edu	37	chr1	176762740	176762740	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taatcccccccagtgaccccGtgatgctacctgagaatatc	10	9	7	15	1	0	3	0	3	0	1	2	4	1	3	6	0	2	1	6	0	4	3	rs199980590		TCGA-CH-5744-01A-11D-1576-08	TCGA-CH-5744-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e46606-ecb4-4a53-acaf-e9e46855fe4d	84029535-3038-490b-b904-910d79fce5c8	g.chr1:176762740G>A	ENST00000367662.3	+	20	6229	c.5065G>A	c.(5065-5067)Gtg>Atg	p.V1689M		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	1689	Sushi 5. {ECO:0000255|PROSITE- ProRule:PRU00302}.				bone morphogenesis (GO:0060349)|cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|proteolysis (GO:0006508)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.V1689M(2)		NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						CAGTGACCCCGTGATGCTACC	0.473													G|||	1	0.000199681	8e-04	0	5008	,	,		17432	0		0	False		,,,				2504	0					ENST00000367662.3																			2	Substitution - Missense(2)	p.V1689M(2)	upper_aerodigestive_tract(1)|prostate(1)	NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						c.(5065-5067)Gtg>Atg		pappalysin 2							181	179	180					1																	176762740		1982	4162	6144	SO:0001583	missense	60676				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding	g.chr1:176762740G>A	BG354569	CCDS41438.1, CCDS41439.1	1q23-q25	2008-05-23	2004-07-07	2004-07-09	ENSG00000116183	ENSG00000116183			14615	protein-coding gene	gene with protein product			"placenta-specific 3"	PLAC3		11018262, 11264294	Standard	NM_021936		Approved	PAPPE, PAPP-A2	uc001gkz.3	Q9BXP8	OTTHUMG00000035025	ENST00000367662.3:c.5065G>A	1.37:g.176762740G>A	ENSP00000356634:p.Val1689Met						p.V1689M	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN			20	6229	+			1689			Sushi 5.		A9Z1Y8|Q96PH7|Q96PH8|Q9H4C9	Missense_Mutation	SNP	ENST00000367662.3	37	c.5065G>A	CCDS41438.1	.	.	.	.	.	.	.	.	.	.	G	16.88	3.243919	0.58995	.	.	ENSG00000116183	ENST00000367662	T	0.02216	4.39	5.17	5.17	0.71159	.	0.136470	0.48767	D	0.000161	T	0.11965	0.0291	M	0.76328	2.33	0.80722	D	1	D	0.89917	1.0	D	0.71184	0.972	T	0.00173	-1.1957	10	0.66056	D	0.02	-13.812	15.5755	0.76380	0.0:0.0:1.0:0.0	.	1689	Q9BXP8	PAPP2_HUMAN	M	1689	ENSP00000356634:V1689M	ENSP00000356634:V1689M	V	+	1	0	PAPPA2	175029363	1.000000	0.71417	0.039000	0.18376	0.573000	0.36030	6.833000	0.75334	2.404000	0.81709	0.655000	0.94253	GTG		0.473	PAPPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084763.1			4	133	0	0	0	1	0	4	133					A	176762740	G	A	176762740	3	1	18	1	0	0	0	0	1	0	0	0	11433	1145	40	1	5192	1	PAPPA2	1	176762740	Missense_Mutation	SNP	G	TCGA-CH-5744-01A-11D-1576-08	21544709	176762740	72487881	2	694											
CACNA1E	777	broad.mit.edu	37	chr1	181725167	181725167	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aagcgccatgaattccactaCgacaacattatctgggccct	12	9	7	13	2	1	1	0	1	1	0	2	2	2	1	3	1	3	0	3	1	5	3			TCGA-CH-5744-01A-11D-1576-08	TCGA-CH-5744-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e46606-ecb4-4a53-acaf-e9e46855fe4d	84029535-3038-490b-b904-910d79fce5c8	g.chr1:181725167C>T	ENST00000367573.2	+	29	4065	c.4065C>T	c.(4063-4065)taC>taT	p.Y1355Y	CACNA1E_ENST00000357570.5_Silent_p.Y1306Y|CACNA1E_ENST00000358338.5_Silent_p.Y1287Y|CACNA1E_ENST00000526775.1_Silent_p.Y1336Y|CACNA1E_ENST00000367567.4_Silent_p.Y962Y|CACNA1E_ENST00000360108.3_Silent_p.Y1336Y|CACNA1E_ENST00000367570.1_Silent_p.Y1355Y	NM_001205293.1	NP_001192222.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	1355					calcium ion import (GO:0070509)|energy reserve metabolic process (GO:0006112)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|voltage-gated calcium channel activity (GO:0005245)	p.Y1355Y(1)		NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						AATTCCACTACGACAACATTA	0.493																																						ENST00000526775.1																			1	Substitution - coding silent(1)	p.Y1355Y(1)	prostate(1)	NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						c.(4006-4008)taC>taT		calcium channel, voltage-dependent, R type, alpha 1E subunit							87	88	87					1																	181725167		2023	4188	6211	SO:0001819	synonymous_variant	777				energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr1:181725167C>T	AK096563	CCDS53443.1, CCDS55664.1, CCDS55665.1	1q25.3	2013-01-10	2007-02-16		ENSG00000198216	ENSG00000198216		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels", "EF-hand domain containing"	1392	protein-coding gene	gene with protein product		601013		CACNL1A6		8388125, 16382099	Standard	NM_001205293		Approved	Cav2.3, BII, CACH6	uc009wxt.3	Q15878	OTTHUMG00000037301	ENST00000367573.2:c.4065C>T	1.37:g.181725167C>T						CACNA1E_ENST00000357570.5_Silent_p.Y1306Y|CACNA1E_ENST00000358338.5_Silent_p.Y1287Y|CACNA1E_ENST00000367573.2_Silent_p.Y1355Y|CACNA1E_ENST00000367570.1_Silent_p.Y1355Y|CACNA1E_ENST00000360108.3_Silent_p.Y1336Y|CACNA1E_ENST00000367567.4_Silent_p.Y962Y	p.Y1336Y	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN			28	4173	+			1355					B1AM12|B1AM13|B1AM14|Q14580|Q14581	Silent	SNP	ENST00000367573.2	37	c.4008C>T	CCDS55664.1																																																																																				0.493	CACNA1E-003	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090793.2	NM_000721		18	56	0	0	0	1	0	18	56					T	181725167	C	T	181725167	2	4	18	1	0	0	0	0	0	0	0	1	2542	547	19	1		1	CACNA1E	1	181725167	Silent	SNP	C	TCGA-CH-5744-01A-11D-1576-08	4962427	181725167	67525454	3	695											
CRB1	23418	broad.mit.edu	37	chr1	197313415	197313415	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctgacttttttaaaaggtgtAaactgtgaattggaaattga	14	15	9	3	0	0	3	0	3	0	0	0	4	0	4	0	2	1	1	0	2	6	6			TCGA-CH-5744-01A-11D-1576-08	TCGA-CH-5744-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e46606-ecb4-4a53-acaf-e9e46855fe4d	84029535-3038-490b-b904-910d79fce5c8	g.chr1:197313415A>G	ENST00000367400.3	+	3	792	c.657A>G	c.(655-657)gtA>gtG	p.V219V	CRB1_ENST00000535699.1_Silent_p.V150V|CRB1_ENST00000543483.1_5'UTR|CRB1_ENST00000367399.2_Intron|CRB1_ENST00000538660.1_Silent_p.V219V	NM_201253.2	NP_957705.1	P82279	CRUM1_HUMAN	crumbs family member 1, photoreceptor morphogenesis associated	219	EGF-like 5; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|eye photoreceptor cell development (GO:0042462)|plasma membrane organization (GO:0007009)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.V219V(1)		NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						TAAAAGGTGTAAACTGTGAAT	0.398																																						ENST00000367400.3																			1	Substitution - coding silent(1)	p.V219V(1)	prostate(1)	NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						c.(655-657)gtA>gtG		crumbs homolog 1 (Drosophila)							153	156	155					1																	197313415		2203	4300	6503	SO:0001819	synonymous_variant	23418				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding	g.chr1:197313415A>G		CCDS1390.1, CCDS53454.1, CCDS58052.1, CCDS58053.1	1q31-q32.1	2014-02-06	2014-02-06		ENSG00000134376	ENSG00000134376			2343	protein-coding gene	gene with protein product		604210	"crumbs (Drosophila) homolog 1", "crumbs homolog 1 (Drosophila)"	RP12		10373321, 10508521	Standard	NM_201253		Approved	LCA8	uc001gtz.3	P82279	OTTHUMG00000035663	ENST00000367400.3:c.657A>G	1.37:g.197313415A>G						CRB1_ENST00000543483.1_5'UTR|CRB1_ENST00000367399.2_Intron|CRB1_ENST00000535699.1_Silent_p.V150V|CRB1_ENST00000538660.1_Silent_p.V219V	p.V219V	NM_201253.2	NP_957705.1	P82279	CRUM1_HUMAN			3	792	+			219			EGF-like 5; calcium-binding (Potential).		A2A308|B7Z5T2|B9EG71|Q5K3A6|Q5TC28|Q5VUT1|Q6N027|Q8WWY0|Q8WWY1	Silent	SNP	ENST00000367400.3	37	c.657A>G	CCDS1390.1																																																																																				0.398	CRB1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086565.2	NM_201253		6	397	0	0	0	1	0	6	397					G	197313415	A	G	197313415	2	3	18	1	0	0	0	0	0	0	0	1	3848	349	13	4		4	CRB1	1	197313415	Silent	SNP	A	TCGA-CH-5744-01A-11D-1576-08	15588248	197313415	51937206	4	696											
BCL11A	53335	broad.mit.edu	37	chr2	60773250	60773250	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggggaaggtggcttatccaCagctttttctaagcagaggc	10	10	13	8	0	1	1	0	0	1	1	2	2	2	2	1	5	2	3	1	5	3	4			TCGA-CH-5744-01A-11D-1576-08	TCGA-CH-5744-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e46606-ecb4-4a53-acaf-e9e46855fe4d	84029535-3038-490b-b904-910d79fce5c8	g.chr2:60773250C>T	ENST00000335712.6	-	2	468	c.241G>A	c.(241-243)Gtg>Atg	p.V81M	BCL11A_ENST00000538214.1_Missense_Mutation_p.V81M|BCL11A_ENST00000537768.1_De_novo_Start_InFrame|BCL11A_ENST00000359629.5_Missense_Mutation_p.V81M|BCL11A_ENST00000356842.4_Missense_Mutation_p.V81M|BCL11A_ENST00000358510.4_Missense_Mutation_p.V81M	NM_022893.3	NP_075044.2	Q9H165	BC11A_HUMAN	B-cell CLL/lymphoma 11A (zinc finger protein)	81	Required for nuclear body formation and for SUMO1 recruitment. {ECO:0000250}.				B cell differentiation (GO:0030183)|negative regulation of axon extension (GO:0030517)|negative regulation of collateral sprouting (GO:0048671)|negative regulation of dendrite development (GO:2000171)|negative regulation of neuron projection development (GO:0010977)|negative regulation of protein homooligomerization (GO:0032463)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of collateral sprouting (GO:0048672)|positive regulation of neuron projection development (GO:0010976)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein sumoylation (GO:0016925)|regulation of dendrite development (GO:0050773)|T cell differentiation (GO:0030217)	cytoplasm (GO:0005737)|nuclear body (GO:0016604)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|transcription corepressor activity (GO:0003714)	p.V81M(3)		NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	59			LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)			GGCTTATCCACAGCTTTTTCT	0.483			T	IGH@	B-CLL																																	ENST00000335712.6				Dom	yes		2	2p13	53335	T	B-cell CLL/lymphoma 11A			L	IGH@		B-CLL		3	Substitution - Missense(3)	p.V81M(3)	prostate(3)	NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	59						c.(241-243)Gtg>Atg		B-cell CLL/lymphoma 11A (zinc finger protein)							159	154	155					2																	60773250		2203	4300	6503	SO:0001583	missense	53335				negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding	g.chr2:60773250C>T	AJ404611	CCDS1861.1, CCDS1862.1, CCDS46295.1	2p16.1	2013-01-08	2002-05-08		ENSG00000119866	ENSG00000119866		"Zinc fingers, C2H2-type"	13221	protein-coding gene	gene with protein product		606557	"ecotropic viral integration site 9"	EVI9		11719382, 18245381	Standard	NM_018014		Approved	BCL11A-XL, BCL11A-L, BCL11A-S, CTIP1, HBFQTL5, ZNF856	uc002sae.1	Q9H165	OTTHUMG00000129420	ENST00000335712.6:c.241G>A	2.37:g.60773250C>T	ENSP00000338774:p.Val81Met					BCL11A_ENST00000356842.4_Missense_Mutation_p.V81M|BCL11A_ENST00000359629.5_Missense_Mutation_p.V81M|BCL11A_ENST00000537768.1_De_novo_Start_InFrame|BCL11A_ENST00000538214.1_Missense_Mutation_p.V81M|BCL11A_ENST00000358510.4_Missense_Mutation_p.V81M	p.V81M	NM_022893.3	NP_075044.2	Q9H165	BC11A_HUMAN	LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)		2	468	-			81			Required for nuclear body formation and for SUMO1 recruitment (By similarity).		D6W5D7|Q86W14|Q8WU92|Q96JL6|Q9H163|Q9H164|Q9H3G9|Q9NWA7	Missense_Mutation	SNP	ENST00000335712.6	37	c.241G>A	CCDS1862.1	.	.	.	.	.	.	.	.	.	.	C	12.52	1.962189	0.34659	.	.	ENSG00000119866	ENST00000356842;ENST00000359629;ENST00000378117;ENST00000538214;ENST00000335712;ENST00000358510	T;T;T;T	0.08370	3.1;3.39;3.4;3.32	5.78	5.78	0.91487	.	0.192650	0.34700	N	0.003758	T	0.10637	0.0260	L	0.28274	0.84	0.80722	D	1	P;B;B;B;P;B	0.48503	0.712;0.435;0.189;0.005;0.911;0.005	B;B;B;B;P;B	0.45506	0.198;0.3;0.16;0.007;0.483;0.019	T	0.12426	-1.0548	10	0.32370	T	0.25	-3.0404	20.0165	0.97478	0.0:1.0:0.0:0.0	.	81;81;81;81;81;81	F5H2Y4;Q66LN6;Q9H165-6;Q9H165;Q9H165-3;D9YZV9	.;.;.;BC11A_HUMAN;.;.	M	81;81;117;81;81;81	ENSP00000349300:V81M;ENSP00000438303:V81M;ENSP00000338774:V81M;ENSP00000351307:V81M	ENSP00000338774:V81M	V	-	1	0	BCL11A	60626754	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	3.434000	0.52841	2.736000	0.93811	0.557000	0.71058	GTG		0.483	BCL11A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251579.2	NM_022893		5	133	0	0	0	1	0	5	133					T	60773250	C	T	60773250	3	4	18	1	0	0	0	0	1	0	0	0	1363	478	17	3	2384	3	BCL11A	2	60773250	Missense_Mutation	SNP	C	TCGA-CH-5744-01A-11D-1576-08		60773250	182426123	5	697											
LRP1B	53353	broad.mit.edu	37	chr2	141473639	141473639	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gagtcttgcaacttcaattaAgttgaaaccatgatctgtcc	12	13	7	9	0	3	2	1	2	2	0	4	3	4	2	2	0	3	2	2	0	4	4			TCGA-CH-5744-01A-11D-1576-08	TCGA-CH-5744-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e46606-ecb4-4a53-acaf-e9e46855fe4d	84029535-3038-490b-b904-910d79fce5c8	g.chr2:141473639A>C	ENST00000389484.3	-	37	6897	c.5926T>G	c.(5926-5928)Tta>Gta	p.L1976V		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	1976					protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)	p.L1976V(1)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		ACTTCAATTAAGTTGAAACCA	0.343										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	ENST00000389484.3																			1	Substitution - Missense(1)	p.L1976V(1)	prostate(1)	NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606						c.(5926-5928)Tta>Gta		low density lipoprotein receptor-related protein 1B							116	122	120					2																	141473639		2203	4300	6503	SO:0001583	missense	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141473639A>C	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"Low density lipoprotein receptors"	6693	protein-coding gene	gene with protein product	"LRP-deleted in tumors"	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.5926T>G	2.37:g.141473639A>C	ENSP00000374135:p.Leu1976Val	TSP Lung(27;0.18)					p.L1976V	NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)	37	6897	-		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)	1976					Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	c.5926T>G	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	A	11.00	1.510617	0.27036	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	D	0.88664	-2.41	5.13	3.98	0.46160	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.52532	U	0.000075	T	0.73265	0.3565	N	0.05534	-0.03	0.38983	D	0.958989	B	0.15719	0.014	B	0.17722	0.019	T	0.61973	-0.6952	10	0.15952	T	0.53	.	5.7537	0.18160	0.7074:0.1416:0.1509:0.0	.	1976	Q9NZR2	LRP1B_HUMAN	V	1976;1914	ENSP00000374135:L1976V	ENSP00000374135:L1976V	L	-	1	2	LRP1B	141190109	1.000000	0.71417	0.999000	0.59377	0.955000	0.61496	1.827000	0.39102	0.805000	0.34159	-0.263000	0.10527	TTA		0.343	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		92	216	0	0	0	1	0	92	216					C	141473639	A	C	141473639	3	2	18	1	0	0	0	0	1	0	0	0	8955	69	3	5	8093	5	LRP1B	2	141473639	Missense_Mutation	SNP	A	TCGA-CH-5744-01A-11D-1576-08	80700389	141473639	101725734	6	698											
CUL3	8452	broad.mit.edu	37	chr2	225379456	225379456	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taatcccaaattgtagacgtTctccacattattttgttgta	11	17	5	8	1	1	1	0	0	1	1	3	1	2	1	2	0	0	4	2	0	5	9			TCGA-CH-5744-01A-11D-1576-08	TCGA-CH-5744-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e46606-ecb4-4a53-acaf-e9e46855fe4d	84029535-3038-490b-b904-910d79fce5c8	g.chr2:225379456T>C	ENST00000264414.4	-	4	750	c.412A>G	c.(412-414)Aac>Gac	p.N138D	CUL3_ENST00000409096.1_Missense_Mutation_p.N114D|CUL3_ENST00000409777.1_Missense_Mutation_p.N114D|CUL3_ENST00000432260.2_5'UTR|CUL3_ENST00000344951.4_Missense_Mutation_p.N72D	NM_003590.4	NP_003581.1	Q13618	CUL3_HUMAN	cullin 3	138					cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|COPII vesicle coating (GO:0048208)|cyclin catabolic process (GO:0008054)|embryonic cleavage (GO:0040016)|ER to Golgi vesicle-mediated transport (GO:0006888)|G1/S transition of mitotic cell cycle (GO:0000082)|gastrulation (GO:0007369)|integrin-mediated signaling pathway (GO:0007229)|intrinsic apoptotic signaling pathway (GO:0097193)|mitotic metaphase plate congression (GO:0007080)|negative regulation of Rho protein signal transduction (GO:0035024)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokinesis (GO:0032467)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|stem cell division (GO:0017145)|stress fiber assembly (GO:0043149)|trophectodermal cellular morphogenesis (GO:0001831)|Wnt signaling pathway (GO:0016055)	Cul3-RING ubiquitin ligase complex (GO:0031463)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|membrane (GO:0016020)|nucleus (GO:0005634)|polar microtubule (GO:0005827)	POZ domain binding (GO:0031208)	p.N138D(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(2)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	46		all_lung(227;0.00877)|Lung NSC(271;0.011)|Renal(207;0.0112)|all_hematologic(139;0.138)		Epithelial(121;1.58e-11)|all cancers(144;1.43e-08)|Lung(261;0.00863)|LUSC - Lung squamous cell carcinoma(224;0.00902)		TTGTAGACGTTCTCCACATTA	0.338																																						ENST00000264414.4																			1	Substitution - Missense(1)	p.N138D(1)	prostate(1)	endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(2)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	46						c.(412-414)Aac>Gac		cullin 3							135	114	121					2																	225379456		2202	4300	6502	SO:0001583	missense	8452				cell cycle arrest|cell migration|cyclin catabolic process|cytokinesis|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|mitotic anaphase|negative regulation of Rho protein signal transduction|positive regulation of cell proliferation|protein ubiquitination|stress fiber assembly	Cul3-RING ubiquitin ligase complex|Golgi apparatus|nucleus|polar microtubule	ubiquitin protein ligase binding	g.chr2:225379456T>C	U58089	CCDS2462.1, CCDS58751.1	2q36.2	2011-05-24			ENSG00000036257	ENSG00000036257			2553	protein-coding gene	gene with protein product		603136				8681378, 17192413	Standard	NM_003590		Approved		uc002vny.3	Q13618	OTTHUMG00000133167	ENST00000264414.4:c.412A>G	2.37:g.225379456T>C	ENSP00000264414:p.Asn138Asp					CUL3_ENST00000409096.1_Missense_Mutation_p.N114D|CUL3_ENST00000409777.1_Missense_Mutation_p.N114D|CUL3_ENST00000344951.4_Missense_Mutation_p.N72D|CUL3_ENST00000432260.2_5'UTR	p.N138D	NM_003590.4	NP_003581.1	Q13618	CUL3_HUMAN		Epithelial(121;1.58e-11)|all cancers(144;1.43e-08)|Lung(261;0.00863)|LUSC - Lung squamous cell carcinoma(224;0.00902)	4	750	-		all_lung(227;0.00877)|Lung NSC(271;0.011)|Renal(207;0.0112)|all_hematologic(139;0.138)	138					A8K536|B8ZZC3|O75415|Q569L3|Q9UBI8|Q9UET7	Missense_Mutation	SNP	ENST00000264414.4	37	c.412A>G	CCDS2462.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	25.6|25.6	4.651387|4.651387	0.88056|0.88056	.|.	.|.	ENSG00000036257|ENSG00000036257	ENST00000436172|ENST00000264414;ENST00000344951;ENST00000409096;ENST00000409777	T|T;T;T;T	0.76316|0.28069	-1.01|1.63;1.63;1.63;1.63	6.06|6.06	6.06|6.06	0.98353|0.98353	.|Cullin, N-terminal (1);Cullin repeat-like-containing domain (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.28267|0.28267	0.0698|0.0698	N|N	0.25286|0.25286	0.73|0.73	0.80722|0.80722	D|D	1|1	.|P;P;P	.|0.47762	.|0.9;0.863;0.863	.|B;P;P	.|0.46685	.|0.39;0.524;0.524	T|T	0.02333|0.02333	-1.1175|-1.1175	7|10	0.30854|0.22706	T|T	0.27|0.39	.|.	16.6245|16.6245	0.84952|0.84952	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|72;116;138	.|Q13618-3;Q53S54;Q13618	.|.;.;CUL3_HUMAN	G|D	158|138;72;114;114	ENSP00000400935:E158G|ENSP00000264414:N138D;ENSP00000343601:N72D;ENSP00000387200:N114D;ENSP00000386525:N114D	ENSP00000400935:E158G|ENSP00000264414:N138D	E|N	-|-	2|1	0|0	CUL3|CUL3	225087700|225087700	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	8.040000|8.040000	0.89188|0.89188	2.323000|2.323000	0.78572|0.78572	0.528000|0.528000	0.53228|0.53228	GAA|AAC		0.338	CUL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256871.2			27	79	0	0	0	1	0	27	79					C	225379456	T	C	225379456	3	2	18	1	0	0	0	0	1	0	0	0	4056	1783	62	4	1946	4	CUL3	2	225379456	Missense_Mutation	SNP	T	TCGA-CH-5744-01A-11D-1576-08	83905817	225379456	17819917	7	699											
RNPEPL1	57140	broad.mit.edu	37	chr2	241516387	241516387	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atcctgacctccacagggtgCggcgcttcctggagagccag	7	7	13	14	2	0	2	0	1	0	1	3	3	3	2	5	3	2	1	5	3	0	1	rs193086300		TCGA-CH-5744-01A-11D-1576-08	TCGA-CH-5744-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e46606-ecb4-4a53-acaf-e9e46855fe4d	84029535-3038-490b-b904-910d79fce5c8	g.chr2:241516387C>T	ENST00000270357.4	+	10	1764	c.1171C>T	c.(1171-1173)Cgg>Tgg	p.R391W	RNPEPL1_ENST00000464550.1_3'UTR	NM_018226.4	NP_060696.4	Q9HAU8	RNPL1_HUMAN	arginyl aminopeptidase (aminopeptidase B)-like 1	391					leukotriene biosynthetic process (GO:0019370)		aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.R391W(1)		central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	13		all_epithelial(40;1.13e-11)|Breast(86;0.000169)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.204)|Melanoma(123;0.238)		Epithelial(32;3.05e-31)|all cancers(36;8.2e-29)|OV - Ovarian serous cystadenocarcinoma(60;8.55e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.12e-06)|Lung(119;0.00168)|Colorectal(34;0.005)|LUSC - Lung squamous cell carcinoma(224;0.00813)|COAD - Colon adenocarcinoma(134;0.0322)		CCACAGGGTGCGGCGCTTCCT	0.647													C|||	1	0.000199681	0	0	5008	,	,		17545	0		0.001	False		,,,				2504	0					ENST00000270357.3																			1	Substitution - Missense(1)	p.R391W(1)	prostate(1)	central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	13						c.(1171-1173)Cgg>Tgg		arginyl aminopeptidase (aminopeptidase B)-like 1							72	68	70					2																	241516387		2203	4300	6503	SO:0001583	missense	57140				leukotriene biosynthetic process|proteolysis		aminopeptidase activity|metallopeptidase activity|zinc ion binding	g.chr2:241516387C>T			2q37.3	2012-03-06			ENSG00000142327	ENSG00000142327			10079	protein-coding gene	gene with protein product		605287				19508204	Standard	NM_018226		Approved		uc002vzi.4	Q9HAU8	OTTHUMG00000133357	ENST00000270357.4:c.1171C>T	2.37:g.241516387C>T	ENSP00000270357:p.Arg391Trp					RNPEPL1_ENST00000464550.1_3'UTR	p.R391W	NM_018226.4	NP_060696.4	Q9HAU8	RNPL1_HUMAN		Epithelial(32;3.05e-31)|all cancers(36;8.2e-29)|OV - Ovarian serous cystadenocarcinoma(60;8.55e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.12e-06)|Lung(119;0.00168)|Colorectal(34;0.005)|LUSC - Lung squamous cell carcinoma(224;0.00813)|COAD - Colon adenocarcinoma(134;0.0322)	10	1764	+		all_epithelial(40;1.13e-11)|Breast(86;0.000169)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.204)|Melanoma(123;0.238)	391					Q5XKC3|Q6NX56|Q96AC9|Q9H033|Q9NVD0	Missense_Mutation	SNP	ENST00000270357.4	37	c.1171C>T		1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	26.4	4.734145	0.89482	.	.	ENSG00000142327	ENST00000270357;ENST00000437406	T;T	0.46063	0.88;0.88	4.73	4.73	0.59995	Peptidase M1, leukotriene A4 hydrolase, aminopeptidase C-terminal (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.63307	0.2500	M	0.71581	2.175	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.997	T	0.66052	-0.6019	10	0.52906	T	0.07	-11.76	15.1567	0.72749	0.0:1.0:0.0:0.0	.	297;391	A4FTX9;Q9HAU8	.;RNPL1_HUMAN	W	391;144	ENSP00000270357:R391W;ENSP00000403319:R144W	ENSP00000270357:R391W	R	+	1	2	RNPEPL1	241165060	0.998000	0.40836	0.985000	0.45067	0.838000	0.47535	3.322000	0.52007	2.167000	0.68274	0.591000	0.81541	CGG		0.647	RNPEPL1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000257190.4	NM_018226		4	111	0	0	0	1	0	4	111					T	241516387	C	T	241516387	3	4	18	1	0	0	0	0	1	0	0	0	13510	759	27	1	1201	1	RNPEPL1	2	241516387	Missense_Mutation	SNP	C	TCGA-CH-5744-01A-11D-1576-08	16136931	241516387	1682986	8	700											
DOCK3	1795	broad.mit.edu	37	chr3	51101984	51101984	+	Missense_Mutation	SNP	G	G	A																															tgactcaggatcaggtgcggGaggttaagcggcacatcacc																										TCGA-CH-5744-01A-11D-1576-08	TCGA-CH-5744-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e46606-ecb4-4a53-acaf-e9e46855fe4d	84029535-3038-490b-b904-910d79fce5c8	g.chr3:51101984G>A	ENST00000266037.9	+	6	444	c.421G>A	c.(421-423)Gag>Aag	p.E141K		NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	141					small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)	p.E130K(1)|p.E141K(1)		breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		TCAGGTGCGGGAGGTTAAGCG	0.453																																						ENST00000266037.9																			2	Substitution - Missense(2)	p.E130K(1)|p.E141K(1)	lung(2)	breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45						c.(421-423)Gag>Aag		dedicator of cytokinesis 3							93	96	95					3																	51101984		1982	4180	6162	SO:0001583	missense	1795					cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding	g.chr3:51101984G>A	AB002297	CCDS46835.1	3p21	2008-02-01			ENSG00000088538	ENSG00000088538			2989	protein-coding gene	gene with protein product		603123	"dedicator of cyto-kinesis 3"			9205841	Standard	NM_004947		Approved	KIAA0299, MOCA, PBP	uc011bds.2	Q8IZD9	OTTHUMG00000156892	ENST00000266037.9:c.421G>A	3.37:g.51101984G>A	ENSP00000266037:p.Glu141Lys						p.E141K	NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)	6	444	+			141					O15017	Missense_Mutation	SNP	ENST00000266037.9	37	c.421G>A	CCDS46835.1	.	.	.	.	.	.	.	.	.	.	G	31	5.091471	0.94149	.	.	ENSG00000088538	ENST00000266037	T	0.60040	0.22	5.88	5.88	0.94601	.	0.045251	0.85682	D	0.000000	T	0.54175	0.1842	L	0.45581	1.43	0.80722	D	1	P	0.41420	0.749	B	0.38500	0.275	T	0.49679	-0.8914	10	0.27082	T	0.32	.	20.2422	0.98381	0.0:0.0:1.0:0.0	.	141	Q8IZD9	DOCK3_HUMAN	K	141	ENSP00000266037:E141K	ENSP00000266037:E141K	E	+	1	0	DOCK3	51077024	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.835000	0.99442	2.788000	0.95919	0.650000	0.86243	GAG		0.453	DOCK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346478.5	NM_004947		28	120	0	0	0	1	0	28	120					A	51101984	G	A	51101984	3	1	18	1	0	0	0	0	1	0	0	0	4688	1175	41	3	443	3	DOCK3	3	51101984	Missense_Mutation	SNP	G	TCGA-CH-5744-01A-11D-1576-08		51101984	146920446	9	701	2	2	1	2		3	2	30	N	G	4.21547e-05
DOCK3	1795	broad.mit.edu	37	chr3	51101986	51101986	+	Silent	SNP	G	G	A																															actcaggatcaggtgcgggaGgttaagcggcacatcaccgt																										TCGA-CH-5744-01A-11D-1576-08	TCGA-CH-5744-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e46606-ecb4-4a53-acaf-e9e46855fe4d	84029535-3038-490b-b904-910d79fce5c8	g.chr3:51101986G>A	ENST00000266037.9	+	6	446	c.423G>A	c.(421-423)gaG>gaA	p.E141E		NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	141					small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)	p.E141E(2)|p.E130E(1)		breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		AGGTGCGGGAGGTTAAGCGGC	0.453																																						ENST00000266037.9																			3	Substitution - coding silent(3)	p.E141E(2)|p.E130E(1)	prostate(3)	breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45						c.(421-423)gaG>gaA		dedicator of cytokinesis 3							93	96	95					3																	51101986		1982	4181	6163	SO:0001819	synonymous_variant	1795					cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding	g.chr3:51101986G>A	AB002297	CCDS46835.1	3p21	2008-02-01			ENSG00000088538	ENSG00000088538			2989	protein-coding gene	gene with protein product		603123	"dedicator of cyto-kinesis 3"			9205841	Standard	NM_004947		Approved	KIAA0299, MOCA, PBP	uc011bds.2	Q8IZD9	OTTHUMG00000156892	ENST00000266037.9:c.423G>A	3.37:g.51101986G>A							p.E141E	NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)	6	446	+			141					O15017	Silent	SNP	ENST00000266037.9	37	c.423G>A	CCDS46835.1																																																																																				0.453	DOCK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346478.5	NM_004947		27	122	0	0	0	1	0	27	122					A	51101986	G	A	51101986	2	1	18	1	0	0	0	0	0	0	0	1	4688	991	35	3		3	DOCK3	3	51101986	Silent	SNP	G	TCGA-CH-5744-01A-11D-1576-08	2	51101986	146920444	10	702	2	2	1	2		3	2	30	N	G	4.21547e-05
DOCK3	1795	broad.mit.edu	37	chr3	51102013	51102013	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cggcacatcaccgtgcgcctGgactggggtaatgagtaagt	9	8	14	10	3	1	1	1	1	0	0	1	2	1	2	2	4	1	3	2	4	2	2			TCGA-CH-5744-01A-11D-1576-08	TCGA-CH-5744-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e46606-ecb4-4a53-acaf-e9e46855fe4d	84029535-3038-490b-b904-910d79fce5c8	g.chr3:51102013G>A	ENST00000266037.9	+	6	473	c.450G>A	c.(448-450)ctG>ctA	p.L150L		NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	150					small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)	p.L150L(2)|p.L139L(1)		breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		CCGTGCGCCTGGACTGGGGTA	0.463																																						ENST00000266037.9																			3	Substitution - coding silent(3)	p.L150L(2)|p.L139L(1)	prostate(3)	breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45						c.(448-450)ctG>ctA		dedicator of cytokinesis 3							82	85	84					3																	51102013		1954	4164	6118	SO:0001819	synonymous_variant	1795					cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding	g.chr3:51102013G>A	AB002297	CCDS46835.1	3p21	2008-02-01			ENSG00000088538	ENSG00000088538			2989	protein-coding gene	gene with protein product		603123	"dedicator of cyto-kinesis 3"			9205841	Standard	NM_004947		Approved	KIAA0299, MOCA, PBP	uc011bds.2	Q8IZD9	OTTHUMG00000156892	ENST00000266037.9:c.450G>A	3.37:g.51102013G>A							p.L150L	NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)	6	473	+			150					O15017	Silent	SNP	ENST00000266037.9	37	c.450G>A	CCDS46835.1																																																																																				0.463	DOCK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346478.5	NM_004947		26	123	0	0	0	1	0	26	123					A	51102013	G	A	51102013	2	1	18	1	0	0	0	0	0	0	0	1	4688	1335	47	3		3	DOCK3	3	51102013	Silent	SNP	G	TCGA-CH-5744-01A-11D-1576-08	27	51102013	146920417	11	703			1	2		3	2	30	N	G	4.21547e-05
RYBP	23429	broad.mit.edu	37	chr3	72428496	72428496	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcttttcaactttctcctTcttctcctttttagggggtg	3	20	7	11	0	4	0	1	0	3	0	6	0	4	0	2	2	2	1	2	2	2	8			TCGA-CH-5744-01A-11D-1576-08	TCGA-CH-5744-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e46606-ecb4-4a53-acaf-e9e46855fe4d	84029535-3038-490b-b904-910d79fce5c8	g.chr3:72428496T>C	ENST00000477973.2	-	2	505	c.506A>G	c.(505-507)gAa>gGa	p.E169G		NM_012234.5	NP_036366.3	Q8N488	RYBP_HUMAN	RING1 and YY1 binding protein	0	Interaction with E4TF1B.				apoptotic process (GO:0006915)|histone H2A monoubiquitination (GO:0035518)|multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)	p.K169R(2)		prostate(1)|upper_aerodigestive_tract(1)	2		Prostate(10;0.00174)|Lung NSC(201;0.0659)|Myeloproliferative disorder(1037;0.204)		BRCA - Breast invasive adenocarcinoma(55;0.000197)|Epithelial(33;0.00068)|LUSC - Lung squamous cell carcinoma(21;0.00228)|Lung(16;0.00677)|KIRC - Kidney renal clear cell carcinoma(39;0.198)|Kidney(39;0.232)		ACTTTCTCCTTCTTCTCCTTT	0.408																																						ENST00000477973.1																			2	Substitution - Missense(2)	p.K169R(2)	prostate(2)	prostate(1)|upper_aerodigestive_tract(1)	2						c.(505-507)gAa>gGa		RING1 and YY1 binding protein							152	146	148					3																	72428496		1846	4090	5936	SO:0001583	missense	23429				apoptosis|histone H2A monoubiquitination|multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleoplasm	DNA binding|protein binding|transcription corepressor activity|zinc ion binding	g.chr3:72428496T>C	AF179286		3p14.2	2008-07-18			ENSG00000163602	ENSG00000163602			10480	protein-coding gene	gene with protein product	"YY1 and E4TF1 associated factor 1", "ring1 interactor RYBP", "apoptin-associating protein 1", "death effector domain-associated factor"	607535				10369680	Standard	NM_012234		Approved	YEAF1, AAP1, DEDAF	uc003dpe.3	Q8N488	OTTHUMG00000159190	ENST00000477973.2:c.506A>G	3.37:g.72428496T>C	ENSP00000419494:p.Glu169Gly						p.E169G	NM_012234.5	NP_036366.3	Q8N488	RYBP_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000197)|Epithelial(33;0.00068)|LUSC - Lung squamous cell carcinoma(21;0.00228)|Lung(16;0.00677)|KIRC - Kidney renal clear cell carcinoma(39;0.198)|Kidney(39;0.232)	2	505	-		Prostate(10;0.00174)|Lung NSC(201;0.0659)|Myeloproliferative disorder(1037;0.204)	0			Interaction with E4TF1B.		Q9P2W5|Q9UMW4	Missense_Mutation	SNP	ENST00000477973.2	37	c.506A>G		.	.	.	.	.	.	.	.	.	.	T	21.3	4.134719	0.77662	.	.	ENSG00000163602	ENST00000477973	.	.	.	5.88	5.88	0.94601	.	.	.	.	.	T	0.63367	0.2505	L	0.48642	1.525	.	.	.	.	.	.	.	.	.	T	0.64499	-0.6393	4	.	.	.	-25.1796	15.9749	0.80054	0.0:0.0:0.0:1.0	.	.	.	.	G	169	.	.	E	-	2	0	RYBP	72511186	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.276000	0.72601	2.239000	0.73571	0.533000	0.62120	GAA		0.408	RYBP-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000353762.3	NM_012234		65	193	0	0	0	1	0	65	193					C	72428496	T	C	72428496	3	2	18	1	0	0	0	0	1	0	0	0	13766	1792	62	4	457	4	RYBP	3	72428496	Missense_Mutation	SNP	T	TCGA-CH-5744-01A-11D-1576-08	21326483	72428496	125593934	12	704											
PLCXD2	257068	broad.mit.edu	37	chr3	111426940	111426940	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aacagctggaagctgggatcCgctactttgacctgcgtgtg	8	10	13	10	2	0	1	0	1	0	0	1	3	1	3	2	2	5	3	2	2	3	2	rs199703580		TCGA-CH-5744-01A-11D-1576-08	TCGA-CH-5744-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e46606-ecb4-4a53-acaf-e9e46855fe4d	84029535-3038-490b-b904-910d79fce5c8	g.chr3:111426940C>T	ENST00000477665.1	+	2	655	c.331C>T	c.(331-333)Cgc>Tgc	p.R111C	PLCXD2_ENST00000393934.3_Missense_Mutation_p.R111C	NM_001185106.1	NP_001172035.1	Q0VAA5	PLCX2_HUMAN	phosphatidylinositol-specific phospholipase C, X domain containing 2	111	PI-PLC X-box. {ECO:0000255|PROSITE- ProRule:PRU00270}.				lipid catabolic process (GO:0016042)		phosphoric diester hydrolase activity (GO:0008081)|signal transducer activity (GO:0004871)	p.R111C(1)		endometrium(1)|large_intestine(5)|lung(9)|prostate(1)|skin(1)	17						AGCTGGGATCCGCTACTTTGA	0.512													C|||	1	0.000199681	0	0.0014	5008	,	,		18232	0		0	False		,,,				2504	0					ENST00000393934.3																			1	Substitution - Missense(1)	p.R111C(1)	prostate(1)	endometrium(1)|large_intestine(5)|lung(9)|prostate(1)|skin(1)	17						c.(331-333)Cgc>Tgc		phosphatidylinositol-specific phospholipase C, X domain containing 2							107	103	105					3																	111426940		2203	4300	6503	SO:0001583	missense	257068				intracellular signal transduction|lipid catabolic process		phospholipase C activity|signal transducer activity	g.chr3:111426940C>T	AK056141	CCDS2961.1, CCDS54619.1	3q13.2	2004-09-09			ENSG00000240891	ENSG00000240891			26462	protein-coding gene	gene with protein product							Standard	NM_001185106		Approved	FLJ31579	uc003dxz.3	Q0VAA5	OTTHUMG00000159279	ENST00000477665.1:c.331C>T	3.37:g.111426940C>T	ENSP00000420686:p.Arg111Cys					PLCXD2_ENST00000477665.1_Missense_Mutation_p.R111C	p.R111C	NM_153268.3	NP_695000.1	Q0VAA5	PLCX2_HUMAN			2	901	+			111			PI-PLC X-box.		Q96N12	Missense_Mutation	SNP	ENST00000477665.1	37	c.331C>T	CCDS54619.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	27.1	4.796940	0.90453	.	.	ENSG00000240891	ENST00000393934;ENST00000477665;ENST00000468174	D;D	0.81499	-1.5;-1.5	5.77	5.77	0.91146	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);Phospholipase C, phosphatidylinositol-specific , X domain (2);	.	.	.	.	D	0.93259	0.7852	H	0.96301	3.8	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.997;0.999;0.998	D	0.94689	0.7872	9	0.87932	D	0	-18.8101	17.8364	0.88699	0.0:1.0:0.0:0.0	.	21;111;111	C9JB87;Q0VAA5;Q0VAA5-2	.;PLCX2_HUMAN;.	C	111;111;21	ENSP00000377511:R111C;ENSP00000420686:R111C	ENSP00000377511:R111C	R	+	1	0	PLCXD2	112909630	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	7.445000	0.80570	2.884000	0.98904	0.655000	0.94253	CGC		0.512	PLCXD2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000354322.1	NM_153268		31	147	0	0	0	1	0	31	147					T	111426940	C	T	111426940	3	4	18	1	0	0	0	0	1	0	0	0	12042	652	23	2	337	2	PLCXD2	3	111426940	Missense_Mutation	SNP	C	TCGA-CH-5744-01A-11D-1576-08	38998444	111426940	86595490	13	705											
COL6A5	256076	broad.mit.edu	37	chr3	130189738	130189738	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccatcaacaaatatcccaccGaagatatgaaagccacatgt	17	7	5	12	1	1	2	1	1	0	1	2	3	2	2	4	0	2	0	4	0	6	2	rs200982668		TCGA-CH-5744-01A-11D-1576-08	TCGA-CH-5744-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e46606-ecb4-4a53-acaf-e9e46855fe4d	84029535-3038-490b-b904-910d79fce5c8	g.chr3:130189738G>A	ENST00000432398.2	+	39	7995	c.7501G>A	c.(7501-7503)Gaa>Aaa	p.E2501K	COL6A5_ENST00000265379.6_Missense_Mutation_p.E2501K	NM_153264.5	NP_694996.5	A8TX70	CO6A5_HUMAN	collagen, type VI, alpha 5	2501	Nonhelical region.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)		p.E2501K(2)|p.E540K(2)		endometrium(6)|kidney(4)|large_intestine(8)|lung(19)|pancreas(2)|prostate(3)|stomach(1)|urinary_tract(1)	44						ATATCCCACCGAAGATATGAA	0.428																																						ENST00000265379.6																			4	Substitution - Missense(4)	p.E2501K(2)|p.E540K(2)	prostate(2)|pancreas(2)	endometrium(6)|kidney(4)|large_intestine(8)|lung(19)|pancreas(2)|prostate(3)|stomach(1)|urinary_tract(1)	44						c.(7501-7503)Gaa>Aaa		collagen, type VI, alpha 5		G	LYS/GLU	3,3781		0,3,1889	82	80	81		7501	-6.1	0	3		81	0,8248		0,0,4124	yes	missense	COL6A5	NM_153264.5	56	0,3,6013	AA,AG,GG		0.0,0.0793,0.0249	benign	2501/2527	130189738	3,12029	1892	4124	6016	SO:0001583	missense	256076				axon guidance|cell adhesion	collagen		g.chr3:130189738G>A	AK093199		3q21.3	2013-01-16	2010-05-24	2010-05-24	ENSG00000172752	ENSG00000172752		"Collagens"	26674	protein-coding gene	gene with protein product	"von Willebrand factor A domain containing 4"	611916	"collagen, type XXIX, alpha 1"	COL29A1		17850181	Standard	NM_153264		Approved	FLJ35880, VWA4	uc010htk.2	A8TX70	OTTHUMG00000159712	ENST00000432398.2:c.7501G>A	3.37:g.130189738G>A	ENSP00000390895:p.Glu2501Lys					COL6A5_ENST00000432398.2_Missense_Mutation_p.E2501K	p.E2501K			A8TX70	CO6A5_HUMAN			39	7995	+			2501			Nonhelical region.		A9J6L2|A9J6L4|A9J6L6|A9J6L7|A9J6M0|A9J6M1|A9J6M2|B5MEA7|Q6ZW26|Q8NA36	Missense_Mutation	SNP	ENST00000432398.2	37	c.7501G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	3.622|3.622	-0.077284|-0.077284	0.07184|0.07184	7.93E-4|7.93E-4	0.0|0.0	ENSG00000172752|ENSG00000172752	ENST00000432398;ENST00000265379;ENST00000373157;ENST00000512482|ENST00000512836	D;D;T;T|.	0.88741|.	-2.32;-2.42;-0.87;-0.71|.	5.35|5.35	-6.05|-6.05	0.02172|0.02172	.|.	1.426660|.	0.04442|.	N|.	0.371131|.	T|T	0.10637|0.10637	0.0260|0.0260	N|N	0.02011|0.02011	-0.69|-0.69	0.09310|0.09310	N|N	1|1	B;B|.	0.02656|.	0.0;0.0|.	B;B|.	0.04013|.	0.0;0.001|.	T|T	0.35475|0.35475	-0.9787|-0.9787	10|5	0.06494|.	T|.	0.89|.	.|.	8.3196|8.3196	0.32121|0.32121	0.4391:0.1056:0.4553:0.0|0.4391:0.1056:0.4553:0.0	.|.	2501;2501|.	A8TX70;A8TX70-2|.	CO6A5_HUMAN;.|.	K|Q	2501;2501;444;336|752	ENSP00000390895:E2501K;ENSP00000265379:E2501K;ENSP00000362250:E444K;ENSP00000424968:E336K|.	ENSP00000265379:E2501K|.	E|R	+|+	1|2	0|0	COL6A5|COL6A5	131672428|131672428	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.133000|0.133000	0.20885|0.20885	-0.373000|-0.373000	0.07494|0.07494	-1.229000|-1.229000	0.02564|0.02564	-2.209000|-2.209000	0.00301|0.00301	GAA|CGA		0.428	COL6A5-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_153264		10	39	0	0	0	1	0	10	39					A	130189738	G	A	130189738	3	1	18	1	0	0	0	0	1	0	0	0	3702	1059	37	2	7651	2	COL6A5	3	130189738	Missense_Mutation	SNP	G	TCGA-CH-5744-01A-11D-1576-08	18762798	130189738	67832692	14	706											
CDKL3	51265	broad.mit.edu	37	chr5	133634385	133634385	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttcaaattcttcccctcgCaatggccatctccaccctaa	9	12	3	17	1	4	0	1	0	3	0	7	0	5	0	5	1	0	1	5	1	3	4			TCGA-CH-5744-01A-11D-1576-08	TCGA-CH-5744-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e46606-ecb4-4a53-acaf-e9e46855fe4d	84029535-3038-490b-b904-910d79fce5c8	g.chr5:133634385C>T	ENST00000265334.4	-	13	1854	c.1736G>A	c.(1735-1737)tGc>tAc	p.C579Y	CTD-2410N18.4_ENST00000518409.1_RNA|CDKL3_ENST00000435240.2_Intron|CDKL3_ENST00000523054.1_3'UTR|CDKL3_ENST00000609654.1_Intron|CDKL3_ENST00000536186.1_Intron|CDKL3_ENST00000609383.1_Intron	NM_001113575.1	NP_001107047.1	Q8IVW4	CDKL3_HUMAN	cyclin-dependent kinase-like 3	579					cellular protein modification process (GO:0006464)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672)	p.C579Y(1)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|prostate(3)	11			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CTTCCCCTCGCAATGGCCATC	0.348																																						ENST00000265334.4																			1	Substitution - Missense(1)	p.C579Y(1)	prostate(1)	breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|prostate(3)	11						c.(1735-1737)tGc>tAc		cyclin-dependent kinase-like 3							115	111	112					5																	133634385		1568	3582	5150	SO:0001583	missense	51265					cytoplasm	ATP binding|cyclin-dependent protein kinase activity	g.chr5:133634385C>T	AF130372	CCDS47264.1, CCDS47265.1, CCDS75303.1	5q31.1	2014-09-09			ENSG00000006837	ENSG00000006837	2.7.11.22	"Cyclin-dependent kinases"	15483	protein-coding gene	gene with protein product	"serine-threonine protein kinase NKIAMRE"	608459				10463609	Standard	NM_016508		Approved	NKIAMRE	uc003kzf.4	Q8IVW4	OTTHUMG00000186341	ENST00000265334.4:c.1736G>A	5.37:g.133634385C>T	ENSP00000265334:p.Cys579Tyr					CDKL3_ENST00000523054.1_3'UTR|CDKL3_ENST00000536186.1_Intron|CDKL3_ENST00000518409.1_Intron|CDKL3_ENST00000435240.2_Intron	p.C579Y	NM_001113575.1	NP_001107047.1	Q8IVW4	CDKL3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		13	1854	-			579					D3DQA0|D3DQA1|Q9P114	Missense_Mutation	SNP	ENST00000265334.4	37	c.1736G>A	CCDS47264.1	.	.	.	.	.	.	.	.	.	.	C	12.82	2.052195	0.36181	.	.	ENSG00000006837	ENST00000265334	T	0.78595	-1.19	5.65	1.76	0.24704	.	0.318283	0.27856	N	0.017573	T	0.60209	0.2251	L	0.27053	0.805	0.58432	D	0.999992	B	0.02656	0.0	B	0.01281	0.0	T	0.51545	-0.8692	10	0.59425	D	0.04	-33.4788	4.1156	0.10079	0.3485:0.4775:0.0:0.1739	.	579	Q8IVW4	CDKL3_HUMAN	Y	579	ENSP00000265334:C579Y	ENSP00000265334:C579Y	C	-	2	0	CDKL3	133662284	1.000000	0.71417	0.739000	0.30968	0.888000	0.51559	1.306000	0.33505	0.283000	0.22279	-0.362000	0.07510	TGC		0.348	CDKL3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000377697.1	NM_001113575		37	125	0	0	0	1	0	37	125					T	133634385	C	T	133634385	3	4	18	1	0	0	0	0	1	0	0	0	3155	710	25	3	46	3	CDKL3	5	133634385	Missense_Mutation	SNP	C	TCGA-CH-5744-01A-11D-1576-08		133634385	47280875	15	707											
FAM53C	51307	broad.mit.edu	37	chr5	137681219	137681219	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gccttgtgatctggatgcccGcaaaactggggtcaagcggc	8	8	14	11	2	2	1	1	1	1	0	2	2	2	2	2	4	3	1	2	4	3	1			TCGA-CH-5744-01A-11D-1576-08	TCGA-CH-5744-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e46606-ecb4-4a53-acaf-e9e46855fe4d	84029535-3038-490b-b904-910d79fce5c8	g.chr5:137681219G>A	ENST00000239906.5	+	4	1270	c.842G>A	c.(841-843)cGc>cAc	p.R281H	FAM53C_ENST00000513056.1_Missense_Mutation_p.A91T|FAM53C_ENST00000434981.2_Missense_Mutation_p.R281H|RP11-256P1.1_ENST00000504539.1_RNA	NM_016605.2	NP_057689.1	Q9NYF3	FA53C_HUMAN	family with sequence similarity 53, member C	281								p.R281H(1)		breast(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			CTGGATGCCCGCAAAACTGGG	0.642																																						ENST00000239906.5																			1	Substitution - Missense(1)	p.R281H(1)	prostate(1)	breast(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17						c.(841-843)cGc>cAc		family with sequence similarity 53, member C							48	58	54					5																	137681219		2203	4300	6503	SO:0001583	missense	51307							g.chr5:137681219G>A	AF251040	CCDS4204.1	5q31	2008-02-05	2004-11-24	2004-11-26	ENSG00000120709	ENSG00000120709			1336	protein-coding gene	gene with protein product		609372	"chromosome 5 open reading frame 6"	C5orf6		11087669, 11161817	Standard	NM_001135647		Approved		uc003lcv.3	Q9NYF3	OTTHUMG00000129201	ENST00000239906.5:c.842G>A	5.37:g.137681219G>A	ENSP00000239906:p.Arg281His					FAM53C_ENST00000513056.1_Missense_Mutation_p.A91T|FAM53C_ENST00000434981.2_Missense_Mutation_p.R281H	p.R281H	NM_016605.2	NP_057689.1	Q9NYF3	FA53C_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)		4	1270	+			281					B2RDJ5|D3DQB9	Missense_Mutation	SNP	ENST00000239906.5	37	c.842G>A	CCDS4204.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.79|13.79	2.342235|2.342235	0.41498|0.41498	.|.	.|.	ENSG00000120709|ENSG00000120709	ENST00000513056|ENST00000434981;ENST00000239906	T|T;T	0.52526|0.51574	0.66|0.7;0.7	5.55|5.55	5.55|5.55	0.83447|0.83447	.|.	.|0.058156	.|0.64402	.|D	.|0.000005	T|T	0.66489|0.66489	0.2794|0.2794	L|L	0.58101|0.58101	1.795|1.795	0.23391|0.23391	N|N	0.997779|0.997779	P|D	0.51791|0.89917	0.948|1.0	B|D	0.42771|0.72075	0.397|0.976	T|T	0.60219|0.60219	-0.7306|-0.7306	9|10	0.49607|0.87932	T|D	0.09|0	-9.4647|-9.4647	18.4386|18.4386	0.90656|0.90656	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	91|281	D6RE00|Q9NYF3	.|FA53C_HUMAN	T|H	91|281	ENSP00000425154:A91T|ENSP00000403705:R281H;ENSP00000239906:R281H	ENSP00000425154:A91T|ENSP00000239906:R281H	A|R	+|+	1|2	0|0	FAM53C|FAM53C	137709118|137709118	0.965000|0.965000	0.33210|0.33210	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	2.118000|2.118000	0.41949|0.41949	2.894000|2.894000	0.99253|0.99253	0.655000|0.655000	0.94253|0.94253	GCA|CGC		0.642	FAM53C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251278.2	NM_016605		4	171	0	0	0	1	0	4	171					A	137681219	G	A	137681219	3	1	18	1	0	0	0	0	1	0	0	0	5581	1087	38	1	852	1	FAM53C	5	137681219	Missense_Mutation	SNP	G	TCGA-CH-5744-01A-11D-1576-08	4046834	137681219	43234041	16	708											
PSD2	84249	broad.mit.edu	37	chr5	139189047	139189047	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggaggaggacaagctcttaTctgcagtgcctgaggaaggc	10	8	15	8	0	2	1	0	1	2	0	2	5	2	5	1	5	3	2	1	5	3	1	rs549790303		TCGA-CH-5744-01A-11D-1576-08	TCGA-CH-5744-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e46606-ecb4-4a53-acaf-e9e46855fe4d	84029535-3038-490b-b904-910d79fce5c8	g.chr5:139189047T>C	ENST00000274710.3	+	2	227	c.22T>C	c.(22-24)Tct>Cct	p.S8P		NM_032289.2	NP_115665.1	Q9BQI7	PSD2_HUMAN	pleckstrin and Sec7 domain containing 2	8					neuron differentiation (GO:0030182)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|phospholipid binding (GO:0005543)	p.S8P(1)		breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(10)|liver(2)|lung(15)|ovary(1)|prostate(2)	38			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAAGCTCTTATCTGCAGTGCC	0.627													T|||	1	0.000199681	0	0	5008	,	,		19004	0		0	False		,,,				2504	0.001					ENST00000274710.3																			1	Substitution - Missense(1)	p.S8P(1)	prostate(1)	breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(10)|liver(2)|lung(15)|ovary(1)|prostate(2)	38						c.(22-24)Tct>Cct		pleckstrin and Sec7 domain containing 2							15	18	17					5																	139189047		2203	4299	6502	SO:0001583	missense	84249				regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity	g.chr5:139189047T>C	AL136559	CCDS4216.1	5q31.3	2013-01-10			ENSG00000146005	ENSG00000146005		"Pleckstrin homology (PH) domain containing"	19092	protein-coding gene	gene with protein product							Standard	NM_032289		Approved	DKFZp761B0514	uc003leu.1	Q9BQI7	OTTHUMG00000129240	ENST00000274710.3:c.22T>C	5.37:g.139189047T>C	ENSP00000274710:p.Ser8Pro						p.S8P	NM_032289.2	NP_115665.1	Q9BQI7	PSD2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		2	227	+			8					D3DQD3|Q8N3J8	Missense_Mutation	SNP	ENST00000274710.3	37	c.22T>C	CCDS4216.1	.	.	.	.	.	.	.	.	.	.	T	12.47	1.948480	0.34377	.	.	ENSG00000146005	ENST00000274710	T	0.32753	1.44	4.64	-5.4	0.02656	.	0.491882	0.17387	N	0.176080	T	0.11367	0.0277	N	0.19112	0.55	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.11397	-1.0589	10	0.31617	T	0.26	.	0.2362	0.00186	0.2603:0.1757:0.2745:0.2895	.	8	Q9BQI7	PSD2_HUMAN	P	8	ENSP00000274710:S8P	ENSP00000274710:S8P	S	+	1	0	PSD2	139169231	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.455000	0.06762	-0.610000	0.05716	-0.429000	0.05907	TCT		0.627	PSD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251339.1	NM_032289		3	21	0	0	0	1	0	3	21					C	139189047	T	C	139189047	3	2	18	1	0	0	0	0	1	0	0	0	12647	1435	50	4	24	4	PSD2	5	139189047	Missense_Mutation	SNP	T	TCGA-CH-5744-01A-11D-1576-08	1507828	139189047	41726213	17	709											
GRIA1	2890	broad.mit.edu	37	chr5	153078545	153078545	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcacgtgggctactcctaccGtctggagattgtcagtgatg	7	11	13	10	2	2	2	1	1	1	1	3	3	3	2	2	2	2	2	2	2	2	3			TCGA-CH-5744-01A-11D-1576-08	TCGA-CH-5744-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e46606-ecb4-4a53-acaf-e9e46855fe4d	84029535-3038-490b-b904-910d79fce5c8	g.chr5:153078545G>A	ENST00000285900.5	+	10	1707	c.1364G>A	c.(1363-1365)cGt>cAt	p.R455H	GRIA1_ENST00000518783.1_Missense_Mutation_p.R465H|GRIA1_ENST00000340592.5_Missense_Mutation_p.R455H|GRIA1_ENST00000448073.4_Missense_Mutation_p.R465H|GRIA1_ENST00000518142.1_Missense_Mutation_p.R375H|GRIA1_ENST00000521843.2_Missense_Mutation_p.R386H	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1	455					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|long-term memory (GO:0007616)|receptor internalization (GO:0031623)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|axonal spine (GO:0044308)|cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|dendrite membrane (GO:0032590)|dendritic spine (GO:0043197)|endocytic vesicle membrane (GO:0030666)|endoplasmic reticulum (GO:0005783)|neuron spine (GO:0044309)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|PDZ domain binding (GO:0030165)	p.R455H(1)		NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Perampanel(DB08883)|Sevoflurane(DB01236)	TACTCCTACCGTCTGGAGATT	0.542																																						ENST00000285900.5																			1	Substitution - Missense(1)	p.R455H(1)	prostate(1)	NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81						c.(1363-1365)cGt>cAt		glutamate receptor, ionotropic, AMPA 1	Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)						95	86	89					5																	153078545		2203	4300	6503	SO:0001583	missense	0				synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding	g.chr5:153078545G>A		CCDS4322.1, CCDS47318.1, CCDS58986.1, CCDS58987.1, CCDS58988.1, CCDS58989.1	5q33	2012-08-29			ENSG00000155511	ENSG00000155511		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4571	protein-coding gene	gene with protein product		138248		GLUR1		1652753, 1319477	Standard	NM_000827		Approved	GluA1, GLURA	uc011dcy.2	P42261	OTTHUMG00000130148	ENST00000285900.5:c.1364G>A	5.37:g.153078545G>A	ENSP00000285900:p.Arg455His					GRIA1_ENST00000448073.4_Missense_Mutation_p.R465H|GRIA1_ENST00000518783.1_Missense_Mutation_p.R465H|GRIA1_ENST00000518142.1_Missense_Mutation_p.R375H|GRIA1_ENST00000340592.5_Missense_Mutation_p.R455H|GRIA1_ENST00000521843.2_Missense_Mutation_p.R386H	p.R455H	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		10	1707	+		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	455					B7Z2S0|B7Z2W8|B7Z3F6|B7Z9G9|D3DQI4|E7ESV8|Q2NKM6	Missense_Mutation	SNP	ENST00000285900.5	37	c.1364G>A	CCDS4322.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.045356	0.75846	.	.	ENSG00000155511	ENST00000285900;ENST00000544403;ENST00000518142;ENST00000537037;ENST00000340592;ENST00000521843;ENST00000544794;ENST00000518783;ENST00000448073	T;T;T;T;T;T;T	0.39229	1.67;1.67;1.09;1.67;1.67;1.67;1.09	5.44	4.58	0.56647	Glutamate receptor, L-glutamate/glycine-binding (2);Ionotropic glutamate receptor (1);	0.117144	0.64402	D	0.000015	T	0.42810	0.1219	L	0.37507	1.11	0.40583	D	0.98141	D;D;B;D;P;B	0.54207	0.965;0.965;0.334;0.965;0.897;0.09	P;P;B;P;B;B	0.52109	0.69;0.69;0.105;0.69;0.439;0.042	T	0.43556	-0.9384	10	0.87932	D	0	.	9.5797	0.39479	0.1592:0.0:0.8408:0.0	.	465;465;375;465;455;455	E7ESV8;B7Z9G9;B7Z3F6;B7Z2W8;P42261-2;P42261	.;.;.;.;.;GRIA1_HUMAN	H	455;455;375;409;455;386;386;465;465	ENSP00000285900:R455H;ENSP00000427920:R375H;ENSP00000339343:R455H;ENSP00000427864:R386H;ENSP00000442108:R386H;ENSP00000428994:R465H;ENSP00000415569:R465H	ENSP00000285900:R455H	R	+	2	0	GRIA1	153058738	0.996000	0.38824	1.000000	0.80357	0.993000	0.82548	1.664000	0.37439	1.300000	0.44818	-0.136000	0.14681	CGT		0.542	GRIA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252456.3			33	75	0	0	0	1	0	33	75					A	153078545	G	A	153078545	3	1	18	1	0	0	0	0	1	0	0	0	6767	1145	40	1	1402	1	GRIA1	5	153078545	Missense_Mutation	SNP	G	TCGA-CH-5744-01A-11D-1576-08	13889498	153078545	27836715	18	710											
ATP10B	23120	broad.mit.edu	37	chr5	159992774	159992774	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggtcgagccacttcggggaCaggggcaggcctctgtctgc	5	8	16	12	2	2	0	0	0	2	0	4	2	2	1	2	6	2	1	2	6	0	1			TCGA-CH-5744-01A-11D-1576-08	TCGA-CH-5744-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e46606-ecb4-4a53-acaf-e9e46855fe4d	84029535-3038-490b-b904-910d79fce5c8	g.chr5:159992774C>G	ENST00000327245.5	-	26	4918	c.4072G>C	c.(4072-4074)Gtc>Ctc	p.V1358L		NM_025153.2	NP_079429.2	O94823	AT10B_HUMAN	ATPase, class V, type 10B	1358					phospholipid translocation (GO:0045332)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)	p.V1358L(1)		NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			ACTTCGGGGACAGGGGCAGGC	0.517																																						ENST00000327245.5																			1	Substitution - Missense(1)	p.V1358L(1)	prostate(1)	NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75						c.(4072-4074)Gtc>Ctc		ATPase, class V, type 10B							117	124	122					5																	159992774		1875	4115	5990	SO:0001583	missense	23120				ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr5:159992774C>G	AB018258	CCDS43394.1	5q34	2010-04-20	2007-09-19		ENSG00000118322	ENSG00000118322		"ATPases / P-type"	13543	protein-coding gene	gene with protein product			"ATPase, Class V, type 10B"			9872452, 11015572	Standard	NM_025153		Approved	ATPVB, KIAA0715, FLJ21477	uc003lym.1	O94823	OTTHUMG00000163551	ENST00000327245.5:c.4072G>C	5.37:g.159992774C>G	ENSP00000313600:p.Val1358Leu						p.V1358L	NM_025153.2	NP_079429.2	O94823	AT10B_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		26	4918	-	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	1358					Q9H725	Missense_Mutation	SNP	ENST00000327245.5	37	c.4072G>C	CCDS43394.1	.	.	.	.	.	.	.	.	.	.	C	5.426	0.263667	0.10294	.	.	ENSG00000118322	ENST00000327245	T	0.38887	1.11	5.33	-0.59	0.11679	.	1.157530	0.06381	N	0.715206	T	0.25568	0.0622	N	0.22421	0.69	0.09310	N	1	B	0.10296	0.003	B	0.09377	0.004	T	0.21211	-1.0252	9	.	.	.	.	5.1522	0.15015	0.1445:0.4896:0.0:0.3659	.	1358	O94823	AT10B_HUMAN	L	1358	ENSP00000313600:V1358L	.	V	-	1	0	ATP10B	159925352	0.000000	0.05858	0.001000	0.08648	0.019000	0.09904	-0.422000	0.07043	-0.027000	0.13873	0.644000	0.83932	GTC		0.517	ATP10B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374127.1	NM_025153		58	234	0	0	0	1	0	58	234					G	159992774	C	G	159992774	3	3	18	1	0	0	0	0	1	0	0	0	1117	478	17	5	317	5	ATP10B	5	159992774	Missense_Mutation	SNP	C	TCGA-CH-5744-01A-11D-1576-08	6914229	159992774	20922486	19	711											
ZAN	7455	broad.mit.edu	37	chr7	100345786	100345786	+	RNA	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggtaggcgtttttggaaaGaccccagagccagctgtggc	8	9	15	9	1	0	2	0	0	0	2	0	3	0	3	3	4	2	3	3	4	2	3			TCGA-CH-5744-01A-11D-1576-08	TCGA-CH-5744-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e46606-ecb4-4a53-acaf-e9e46855fe4d	84029535-3038-490b-b904-910d79fce5c8	g.chr7:100345786G>T	ENST00000348028.3	+	0	1215				ZAN_ENST00000538115.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000542585.1_RNA			Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida (GO:0007339)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.K350N(3)		NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			TTTTTGGAAAGACCCCAGAGC	0.597																																						ENST00000542585.1																			3	Substitution - Missense(3)	p.K350N(3)	prostate(3)	NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139								zonadhesin (gene/pseudogene)							66	68	67					7																	100345786		1972	4164	6136			7455				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane		g.chr7:100345786G>T	U83191		7q22.1	2013-10-10	2013-10-10		ENSG00000146839	ENSG00000146839			12857	protein-coding gene	gene with protein product		602372	"zonadhesin"			9799793, 17033959	Standard	NM_003386		Approved		uc003uwk.3	Q9Y493	OTTHUMG00000157037		7.37:g.100345786G>T						ZAN_ENST00000443370.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000546292.1_RNA		NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	STAD - Stomach adenocarcinoma(171;0.19)		0	1198	+	Lung NSC(181;0.041)|all_lung(186;0.0581)							A0FKC8|D6W5W4|O00218|Q96L85|Q96L86|Q96L87|Q96L88|Q96L89|Q96L90|Q9BXN9|Q9BZ83|Q9BZ84|Q9BZ85|Q9BZ86|Q9BZ87|Q9BZ88	RNA	SNP	ENST00000348028.3	37			.	.	.	.	.	.	.	.	.	.	G	16.81	3.226473	0.58668	.	.	ENSG00000146839	ENST00000546292;ENST00000538115;ENST00000542585	T;T;T	0.02216	4.39;4.39;4.39	4.72	-2.72	0.05968	Concanavalin A-like lectin/glucanase (1);MAM domain (3);	2.087150	0.02417	N	0.082171	T	0.01627	0.0052	N	0.16307	0.4	0.09310	N	0.999999	B;B	0.18166	0.021;0.026	B;B	0.13407	0.005;0.009	T	0.45425	-0.9262	10	0.41790	T	0.15	.	1.1946	0.01872	0.1848:0.1301:0.2656:0.4195	.	350;350	F5H0T8;Q9Y493	.;ZAN_HUMAN	N	350	ENSP00000445943:K350N;ENSP00000445091:K350N;ENSP00000444427:K350N	ENSP00000423579:K350N	K	+	3	2	ZAN	100183722	0.000000	0.05858	0.000000	0.03702	0.806000	0.45545	0.185000	0.16958	-0.686000	0.05170	0.555000	0.69702	AAG		0.597	ZAN-006	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000347214.1	NM_003386		12	59	1	0	0.000219431	1	0.000234308	12	59					T	100345786	G	T	100345786	1	4	18	0	1	0	0	0	0	0	0	0	17510	933	33	5		5	ZAN	7	100345786	RNA	SNP	G	TCGA-CH-5744-01A-11D-1576-08		100345786	58792877	20	712											
EBF2	64641	broad.mit.edu	37	chr8	25745360	25745360	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cctgttgcctctgcttacctCgctccatacaagcatagtcc	7	12	6	16	1	1	0	0	0	1	0	4	0	3	0	5	0	5	4	5	0	4	4	rs199818972		TCGA-CH-5744-01A-11D-1576-08	TCGA-CH-5744-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e46606-ecb4-4a53-acaf-e9e46855fe4d	84029535-3038-490b-b904-910d79fce5c8	g.chr8:25745360C>T	ENST00000520164.1	-	9	1417	c.880G>A	c.(880-882)Gag>Aag	p.E294K	EBF2_ENST00000535548.1_Missense_Mutation_p.E25K|EBF2_ENST00000408929.3_Missense_Mutation_p.E146K	NM_022659.3	NP_073150.2	Q9HAK2	COE2_HUMAN	early B-cell factor 2	294	IPT/TIG.				adipose tissue development (GO:0060612)|brown fat cell differentiation (GO:0050873)|cell fate determination (GO:0001709)|positive regulation of chromatin binding (GO:0035563)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.E294K(2)		endometrium(3)|kidney(2)|large_intestine(3)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	39		all_cancers(63;0.0989)|Ovarian(32;2.74e-05)|all_epithelial(46;0.0608)|Prostate(55;0.0845)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0277)|Epithelial(17;3.29e-10)|Colorectal(74;0.00383)|COAD - Colon adenocarcinoma(73;0.00738)		CTGCTTACCTCGCTCCATACA	0.463																																					Esophageal Squamous(166;1018 1046 3854 8328 13429 13634 14071 26624 32918)	ENST00000520164.1																			2	Substitution - Missense(2)	p.E294K(2)	prostate(2)	endometrium(3)|kidney(2)|large_intestine(3)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	39						c.(880-882)Gag>Aag		early B-cell factor 2		C	LYS/GLU	0,3976		0,0,1988	100	94	96		880	6.1	1	8		96	1,8389		0,1,4194	no	missense	EBF2	NM_022659.2	56	0,1,6182	TT,TC,CC		0.0119,0.0,0.0081	probably-damaging	294/576	25745360	1,12365	1988	4195	6183	SO:0001583	missense	64641				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding	g.chr8:25745360C>T	AK021562, AK001144	CCDS43726.1	8p21.1	2007-07-26			ENSG00000221818	ENSG00000221818			19090	protein-coding gene	gene with protein product		609934				9151732	Standard	NM_022659		Approved	FLJ11500, COE2	uc003xes.2	Q9HAK2	OTTHUMG00000163838	ENST00000520164.1:c.880G>A	8.37:g.25745360C>T	ENSP00000430241:p.Glu294Lys					EBF2_ENST00000535548.1_Missense_Mutation_p.E25K|EBF2_ENST00000408929.3_Missense_Mutation_p.E146K	p.E294K	NM_022659.3	NP_073150.2	Q9HAK2	COE2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0277)|Epithelial(17;3.29e-10)|Colorectal(74;0.00383)|COAD - Colon adenocarcinoma(73;0.00738)	9	1417	-		all_cancers(63;0.0989)|Ovarian(32;2.74e-05)|all_epithelial(46;0.0608)|Prostate(55;0.0845)	294			IPT/TIG.		A0PJM4|A6NMF7|F5H645|Q66VZ3|Q6DK36|Q6IS86|Q6ISA4	Missense_Mutation	SNP	ENST00000520164.1	37	c.880G>A	CCDS43726.1	.	.	.	.	.	.	.	.	.	.	C	26.3	4.722706	0.89298	0.0	1.19E-4	ENSG00000221818	ENST00000520164;ENST00000408929;ENST00000535548	T;T;T	0.76316	-1.01;-1.01;0.94	6.08	6.08	0.98989	Cell surface receptor IPT/TIG (2);Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.80722	0.4677	M	0.82630	2.6	0.80722	D	1	P	0.40282	0.711	B	0.35470	0.203	T	0.82311	-0.0520	10	0.52906	T	0.07	-1.4851	20.6634	0.99662	0.0:1.0:0.0:0.0	.	294	Q9HAK2	COE2_HUMAN	K	294;146;25	ENSP00000430241:E294K;ENSP00000386178:E146K;ENSP00000437909:E25K	ENSP00000386178:E146K	E	-	1	0	EBF2	25801277	1.000000	0.71417	0.991000	0.47740	0.983000	0.72400	7.818000	0.86416	2.894000	0.99253	0.655000	0.94253	GAG		0.463	EBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375886.2	NM_022659		37	58	0	0	0	1	0	37	58					T	25745360	C	T	25745360	3	4	18	1	0	0	0	0	1	0	0	0	4881	893	31	2	879	2	EBF2	8	25745360	Missense_Mutation	SNP	C	TCGA-CH-5744-01A-11D-1576-08		25745360	120618662	21	713											
KDM4C	23081	broad.mit.edu	37	chr9	7169914	7169914	+	Intron	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agtgctggcagatgccacttGgggacctgccaagtgaattc	9	9	13	10	0	0	2	0	1	0	1	1	3	0	3	3	3	3	2	3	3	2	2			TCGA-CH-5744-01A-11D-1576-08	TCGA-CH-5744-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e46606-ecb4-4a53-acaf-e9e46855fe4d	84029535-3038-490b-b904-910d79fce5c8	g.chr9:7169914G>C	ENST00000381309.3	+	21	3559				KDM4C_ENST00000428870.2_Intron|KDM4C_ENST00000381306.3_Missense_Mutation_p.L1006F|KDM4C_ENST00000442236.2_Intron	NM_015061.3	NP_055876.2	Q9H3R0	KDM4C_HUMAN	lysine (K)-specific demethylase 4C						histone H3-K9 demethylation (GO:0033169)|positive regulation of cell proliferation (GO:0008284)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)	androgen receptor binding (GO:0050681)|dioxygenase activity (GO:0051213)|enzyme binding (GO:0019899)|histone demethylase activity (H3-K9 specific) (GO:0032454)|zinc ion binding (GO:0008270)	p.L1006F(1)		breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	43						GATGCCACTTGGGGACCTGCC	0.448																																						ENST00000381306.3																			1	Substitution - Missense(1)	p.L1006F(1)	prostate(1)	breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	43						c.(3016-3018)ttG>ttC		lysine (K)-specific demethylase 4C							57	49	52					9																	7169914		2203	4300	6503	SO:0001627	intron_variant	23081				positive regulation of cell proliferation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription, DNA-dependent	nuclear chromatin	androgen receptor binding|enzyme binding|histone demethylase activity (H3-K9 specific)|nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding	g.chr9:7169914G>C	AB018323	CCDS6471.1, CCDS55285.1, CCDS55286.1, CCDS55287.1	9p24-p23	2013-01-23	2009-04-06	2009-04-06	ENSG00000107077	ENSG00000107077		"Chromatin-modifying enzymes / K-demethylases", "Tudor domain containing"	17071	protein-coding gene	gene with protein product	"tudor domain containing 14C"	605469	"jumonji domain containing 2C"	JMJD2C		9872452, 15138608	Standard	NM_015061		Approved	GASC1, KIAA0780, TDRD14C	uc003zkh.3	Q9H3R0	OTTHUMG00000019536	ENST00000381309.3:c.2994+24G>C	9.37:g.7169914G>C						KDM4C_ENST00000381309.3_Intron|KDM4C_ENST00000442236.2_Intron|KDM4C_ENST00000428870.2_Intron	p.L1006F	NM_001146694.1	NP_001140166.1	Q9H3R0	KDM4C_HUMAN			21	3583	+			0					B4E1Y4|B7ZL46|F5H347|F5H7P0|O94877|Q2M3M0|Q5JUC9|Q5VYJ2|Q5VYJ3	Missense_Mutation	SNP	ENST00000381309.3	37	c.3018G>C	CCDS6471.1	.	.	.	.	.	.	.	.	.	.	G	10.56	1.384088	0.25031	.	.	ENSG00000107077	ENST00000381306	T	0.17528	2.27	4.11	-0.0991	0.13625	.	.	.	.	.	T	0.10337	0.0253	.	.	.	0.09310	N	0.999996	B	0.32467	0.372	B	0.32533	0.147	T	0.34800	-0.9814	7	.	.	.	.	6.5193	0.22266	0.4789:0.0:0.5211:0.0	.	1006	Q9H3R0-2	.	F	1006	ENSP00000370707:L1006F	.	L	+	3	2	KDM4C	7159914	0.000000	0.05858	0.000000	0.03702	0.160000	0.22226	-3.337000	0.00507	-0.122000	0.11766	0.467000	0.42956	TTG		0.448	KDM4C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051692.1	NM_015061		12	53	0	0	0	1	0	12	53					C	7169914	G	C	7169914	1	2	18	0	1	0	0	0	0	0	0	0	8130	1339	47	5		5	KDM4C	9	7169914	Intron	SNP	G	TCGA-CH-5744-01A-11D-1576-08		7169914	134043517	22	714											
TRPM6	140803	broad.mit.edu	37	chr9	77427337	77427337	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	agcatctgacattgcttgttCcagggcatcaggcttcagaa	10	11	10	10	0	3	2	2	1	1	1	4	2	4	2	1	2	2	5	1	2	1	4			TCGA-CH-5744-01A-11D-1576-08	TCGA-CH-5744-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e46606-ecb4-4a53-acaf-e9e46855fe4d	84029535-3038-490b-b904-910d79fce5c8	g.chr9:77427337C>T	ENST00000360774.1	-	12	1558	c.1321G>A	c.(1321-1323)Gaa>Aaa	p.E441K	TRPM6_ENST00000376871.3_Missense_Mutation_p.E441K|TRPM6_ENST00000376864.4_Missense_Mutation_p.E441K|TRPM6_ENST00000376872.3_Missense_Mutation_p.E441K|TRPM6_ENST00000361255.3_Missense_Mutation_p.E436K|TRPM6_ENST00000449912.2_Missense_Mutation_p.E436K|TRPM6_ENST00000451710.3_Missense_Mutation_p.E441K	NM_017662.4	NP_060132.3	Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	441					calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|response to toxic substance (GO:0009636)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium channel activity (GO:0005262)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)	p.E441K(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						ATTGCTTGTTCCAGGGCATCA	0.363																																						ENST00000451710.3																			1	Substitution - Missense(1)	p.E441K(1)	prostate(1)	NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						c.(1321-1323)Gaa>Aaa		transient receptor potential cation channel, subfamily M, member 6							81	75	77					9																	77427337		2203	4300	6503	SO:0001583	missense	140803				response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr9:77427337C>T	AK026281	CCDS6647.1, CCDS55318.1, CCDS55319.1	9q21.13	2011-12-14	2003-12-02		ENSG00000119121	ENSG00000119121		"Voltage-gated ion channels / Transient receptor potential cation channels"	17995	protein-coding gene	gene with protein product		607009	"hypomagnesemia, secondary hypocalcemia"	HOMG, HSH		10021370, 12032570, 16382100	Standard	NM_017662		Approved	CHAK2, FLJ22628	uc004ajk.1	Q9BX84	OTTHUMG00000020027	ENST00000360774.1:c.1321G>A	9.37:g.77427337C>T	ENSP00000354006:p.Glu441Lys					TRPM6_ENST00000360774.1_Missense_Mutation_p.E441K|TRPM6_ENST00000449912.2_Missense_Mutation_p.E436K|TRPM6_ENST00000376864.4_Missense_Mutation_p.E441K|TRPM6_ENST00000376871.3_Missense_Mutation_p.E441K|TRPM6_ENST00000376872.3_Missense_Mutation_p.E441K|TRPM6_ENST00000361255.3_Missense_Mutation_p.E436K	p.E441K			Q9BX84	TRPM6_HUMAN			12	1558	-			441					Q6VPR8|Q6VPR9|Q6VPS0|Q6VPS1|Q6VPS2	Missense_Mutation	SNP	ENST00000360774.1	37	c.1321G>A	CCDS6647.1	.	.	.	.	.	.	.	.	.	.	C	29.3	4.990262	0.93106	.	.	ENSG00000119121	ENST00000360774;ENST00000451710;ENST00000376872;ENST00000376871;ENST00000449912;ENST00000361255;ENST00000376864;ENST00000312449;ENST00000448641	T;T;T;T;T;T;T	0.55234	0.53;0.53;0.53;0.53;0.53;0.53;0.53	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	T	0.78181	0.4243	M	0.86651	2.83	0.58432	D	0.999999	D;D;D;D	0.89917	1.0;1.0;1.0;0.999	D;D;D;D	0.91635	0.997;0.997;0.999;0.99	T	0.81261	-0.1013	10	0.87932	D	0	.	19.8436	0.96701	0.0:1.0:0.0:0.0	.	441;441;441;436	Q9BX84-6;Q9BX84-5;Q9BX84;Q9BX84-3	.;.;TRPM6_HUMAN;.	K	441;441;441;441;436;436;441;104;104	ENSP00000354006:E441K;ENSP00000407341:E441K;ENSP00000366068:E441K;ENSP00000366067:E441K;ENSP00000396672:E436K;ENSP00000354962:E436K;ENSP00000366060:E441K	ENSP00000309693:E104K	E	-	1	0	TRPM6	76617157	1.000000	0.71417	0.998000	0.56505	0.734000	0.41952	7.818000	0.86416	2.695000	0.91970	0.650000	0.86243	GAA		0.363	TRPM6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000052693.1	NM_017662		51	91	0	0	0	1	0	51	91					T	77427337	C	T	77427337	3	4	18	1	0	0	0	0	1	0	0	0	16587	864	30	3	4859	3	TRPM6	9	77427337	Missense_Mutation	SNP	C	TCGA-CH-5744-01A-11D-1576-08	70257423	77427337	63786094	23	715											
IKBKAP	8518	broad.mit.edu	37	chr9	111662626	111662626	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagaacttccccatgggacaCatgattgctgctcaggccgg	9	8	11	13	1	1	2	1	1	0	1	2	3	2	3	3	3	3	2	3	3	1	2			TCGA-CH-5744-01A-11D-1576-08	TCGA-CH-5744-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e46606-ecb4-4a53-acaf-e9e46855fe4d	84029535-3038-490b-b904-910d79fce5c8	g.chr9:111662626C>T	ENST00000374647.5	-	19	2351	c.2044G>A	c.(2044-2046)Gtg>Atg	p.V682M	IKBKAP_ENST00000537196.1_Missense_Mutation_p.V333M	NM_003640.3	NP_003631.2	O95163	ELP1_HUMAN	inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein	682					chromatin organization (GO:0006325)|immune response (GO:0006955)|positive regulation of cell migration (GO:0030335)|protein complex assembly (GO:0006461)|protein phosphorylation (GO:0006468)|regulation of protein kinase activity (GO:0045859)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|transcription elongation from RNA polymerase II promoter (GO:0006368)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|Elongator holoenzyme complex (GO:0033588)|nucleolus (GO:0005730)|transcription elongation factor complex (GO:0008023)	phosphorylase kinase regulator activity (GO:0008607)|signal transducer activity (GO:0004871)	p.V682M(1)		NS(2)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						CCATGGGACACATGATTGCTG	0.458																																						ENST00000374647.5																			1	Substitution - Missense(1)	p.V682M(1)	prostate(1)	NS(2)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						c.(2044-2046)Gtg>Atg		inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein							139	106	117					9																	111662626		2203	4300	6503	SO:0001583	missense	8518				immune response|protein complex assembly|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|DNA-directed RNA polymerase II, holoenzyme|nucleolus|transcription elongation factor complex	phosphorylase kinase regulator activity|protein binding|signal transducer activity	g.chr9:111662626C>T	AF044195	CCDS6773.1	9q31	2014-09-17	2003-12-02		ENSG00000070061	ENSG00000070061		"Elongator acetyltransferase complex subunits"	5959	protein-coding gene	gene with protein product	"elongator acetyltransferase complex subunit 1"	603722	"dysautonomia (Riley-Day syndrome, hereditary sensory autonomic neuropathy type III)"	DYS		9751059, 11179008	Standard	NM_003640		Approved	IKAP, TOT1, ELP1, IKI3	uc004bdm.4	O95163	OTTHUMG00000020465	ENST00000374647.5:c.2044G>A	9.37:g.111662626C>T	ENSP00000363779:p.Val682Met					IKBKAP_ENST00000537196.1_Missense_Mutation_p.V333M	p.V682M	NM_003640.3	NP_003631.2	O95163	ELP1_HUMAN			19	2351	-			682					Q5JSV2|Q9H327|Q9UG87	Missense_Mutation	SNP	ENST00000374647.5	37	c.2044G>A	CCDS6773.1	.	.	.	.	.	.	.	.	.	.	C	14.23	2.473353	0.43942	.	.	ENSG00000070061	ENST00000374647;ENST00000537196	T;T	0.26957	1.7;1.7	5.24	1.24	0.21308	.	0.855094	0.10870	N	0.625089	T	0.14141	0.0342	N	0.12182	0.205	0.09310	N	1	B	0.09022	0.002	B	0.15484	0.013	T	0.27262	-1.0079	10	0.46703	T	0.11	-0.0159	7.9156	0.29816	0.0:0.5575:0.0:0.4425	.	682	O95163	ELP1_HUMAN	M	682;333	ENSP00000363779:V682M;ENSP00000439367:V333M	ENSP00000363779:V682M	V	-	1	0	IKBKAP	110702447	0.000000	0.05858	0.000000	0.03702	0.764000	0.43329	-0.361000	0.07612	0.026000	0.15269	0.655000	0.94253	GTG		0.458	IKBKAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053574.1			22	108	0	0	0	1	0	22	108					T	111662626	C	T	111662626	3	4	18	1	0	0	0	0	1	0	0	0	7610	478	17	3	2030	3	IKBKAP	9	111662626	Missense_Mutation	SNP	C	TCGA-CH-5744-01A-11D-1576-08	34235289	111662626	29550805	24	716											
WDR38	401551	broad.mit.edu	37	chr9	127618187	127618187	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcttcagccctgactcgagaCagctggcatcaggtggctgg	7	8	14	12	1	2	2	2	1	0	1	3	3	2	2	1	4	2	4	1	4	0	1	rs200022041		TCGA-CH-5744-01A-11D-1576-08	TCGA-CH-5744-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e46606-ecb4-4a53-acaf-e9e46855fe4d	84029535-3038-490b-b904-910d79fce5c8	g.chr9:127618187C>A	ENST00000373574.1	+	4	411	c.355C>A	c.(355-357)Cag>Aag	p.Q119K		NM_001045476.1|NM_001276374.1	NP_001038941.1|NP_001263303.1	Q5JTN6	WDR38_HUMAN	WD repeat domain 38	119					hematopoietic progenitor cell differentiation (GO:0002244)			p.Q119K(1)		breast(1)|large_intestine(1)|lung(4)|prostate(1)|skin(1)	8						TGACTCGAGACAGCTGGCATC	0.622											OREG0019485	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000373574.1																			1	Substitution - Missense(1)	p.Q119K(1)	prostate(1)	breast(1)|large_intestine(1)|lung(4)|prostate(1)|skin(1)	8						c.(355-357)Cag>Aag		WD repeat domain 38							91	101	98					9																	127618187		2134	4253	6387	SO:0001583	missense	401551							g.chr9:127618187C>A		CCDS43876.1, CCDS75898.1, CCDS75899.1	9q33.3	2013-01-09			ENSG00000136918	ENSG00000136918		"WD repeat domain containing"	23745	protein-coding gene	gene with protein product							Standard	NM_001276375		Approved		uc011lzo.3	Q5JTN6	OTTHUMG00000020664	ENST00000373574.1:c.355C>A	9.37:g.127618187C>A	ENSP00000362677:p.Gln119Lys		OREG0019485	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1558		p.Q119K	NM_001045476.1|NM_001276374.1	NP_001038941.1|NP_001263303.1	Q5JTN6	WDR38_HUMAN			4	411	+			119					A0PK24	Missense_Mutation	SNP	ENST00000373574.1	37	c.355C>A	CCDS43876.1	.	.	.	.	.	.	.	.	.	.	C	9.790	1.177693	0.21787	.	.	ENSG00000136918	ENST00000373574	T	0.59638	0.25	4.37	4.37	0.52481	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.550372	0.17260	N	0.180821	T	0.29061	0.0722	N	0.02842	-0.48	0.23113	N	0.998279	P;P;P;P	0.35033	0.481;0.481;0.481;0.481	B;B;B;B	0.33042	0.157;0.157;0.157;0.157	T	0.07966	-1.0745	10	0.29301	T	0.29	.	8.1121	0.30920	0.0:0.8916:0.0:0.1084	.	119;119;108;119	B9EK65;B7ZW23;B7ZW24;Q5JTN6	.;.;.;WDR38_HUMAN	K	119	ENSP00000362677:Q119K	ENSP00000362677:Q119K	Q	+	1	0	WDR38	126658008	0.814000	0.29104	0.872000	0.34217	0.603000	0.37013	1.566000	0.36396	2.255000	0.74692	0.462000	0.41574	CAG		0.622	WDR38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054048.1	NM_001045476		4	139	1	0	0.00024832	1	0.000256462	4	139					A	127618187	C	A	127618187	3	1	18	1	0	0	0	0	1	0	0	0	17289	479	17	5	369	5	WDR38	9	127618187	Missense_Mutation	SNP	C	TCGA-CH-5744-01A-11D-1576-08	15955561	127618187	13595244	25	717											
TNKS1BP1	85456	broad.mit.edu	37	chr11	57077492	57077492	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gctcgttggcatcttggctgGcataagcacccagagaatct	9	10	11	11	1	2	1	0	0	2	1	3	2	2	1	1	3	1	6	1	3	2	3			TCGA-CH-5744-01A-11D-1576-08	TCGA-CH-5744-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e46606-ecb4-4a53-acaf-e9e46855fe4d	84029535-3038-490b-b904-910d79fce5c8	g.chr11:57077492G>A	ENST00000532437.1	-	5	3004	c.2693C>T	c.(2692-2694)gCc>gTc	p.A898V	TNKS1BP1_ENST00000530920.1_5'UTR|TNKS1BP1_ENST00000358252.3_Missense_Mutation_p.A898V			Q9C0C2	TB182_HUMAN	tankyrase 1 binding protein 1, 182kDa	898	Acidic.				gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|RNA metabolic process (GO:0016070)|telomere maintenance via telomerase (GO:0007004)	CCR4-NOT complex (GO:0030014)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nuclear telomeric heterochromatin (GO:0005724)|nucleus (GO:0005634)	ankyrin binding (GO:0030506)|enzyme binding (GO:0019899)	p.A898V(1)		breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	64		all_epithelial(135;0.21)				ATCTTGGCTGGCATAAGCACC	0.532																																						ENST00000532437.1																			1	Substitution - Missense(1)	p.A898V(1)	prostate(1)	breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						c.(2692-2694)gCc>gTc		tankyrase 1 binding protein 1, 182kDa							187	185	186					11																	57077492		2201	4296	6497	SO:0001583	missense	85456				nuclear-transcribed mRNA poly(A) tail shortening|telomere maintenance via telomerase	cytoskeleton|cytosol|nuclear telomeric heterochromatin	ankyrin binding|enzyme binding	g.chr11:57077492G>A	AB051528	CCDS7951.1	11q12.2	2008-07-21			ENSG00000149115	ENSG00000149115			19081	protein-coding gene	gene with protein product		607104				11854288	Standard	NM_033396		Approved	TAB182, KIAA1741, FLJ45975	uc001njs.3	Q9C0C2	OTTHUMG00000167022	ENST00000532437.1:c.2693C>T	11.37:g.57077492G>A	ENSP00000437271:p.Ala898Val					TNKS1BP1_ENST00000530920.1_5'UTR|TNKS1BP1_ENST00000358252.3_Missense_Mutation_p.A898V	p.A898V			Q9C0C2	TB182_HUMAN			5	3004	-		all_epithelial(135;0.21)	898			Acidic.		A7E2F8|Q6PJ35|Q6ZV74	Missense_Mutation	SNP	ENST00000532437.1	37	c.2693C>T	CCDS7951.1	.	.	.	.	.	.	.	.	.	.	G	11.57	1.678909	0.29783	.	.	ENSG00000149115	ENST00000358252;ENST00000532437	T;T	0.34667	1.35;1.35	4.47	-3.24	0.05094	.	1.939410	0.03105	N	0.161631	T	0.27697	0.0681	L	0.29908	0.895	0.09310	N	0.999999	B	0.32829	0.386	B	0.28011	0.085	T	0.42241	-0.9463	10	0.59425	D	0.04	0.0096	11.9863	0.53149	0.0805:0.6124:0.3072:0.0	.	898	Q9C0C2	TB182_HUMAN	V	898	ENSP00000350990:A898V;ENSP00000437271:A898V	ENSP00000350990:A898V	A	-	2	0	TNKS1BP1	56834068	0.000000	0.05858	0.003000	0.11579	0.360000	0.29518	0.096000	0.15147	-0.334000	0.08463	0.462000	0.41574	GCC		0.532	TNKS1BP1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392455.1	NM_033396		6	414	0	0	0	1	0	6	414					A	57077492	G	A	57077492	3	1	18	1	0	0	0	0	1	0	0	0	16317	1203	42	3	2520	3	TNKS1BP1	11	57077492	Missense_Mutation	SNP	G	TCGA-CH-5744-01A-11D-1576-08		57077492	77929024	26	718											
NCAM1	4684	broad.mit.edu	37	chr11	113105824	113105824	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtacgccgtaaggctggcggCgctcaatggcaaagggctgg	8	6	17	10	4	1	0	1	0	0	0	1	0	1	0	1	6	1	6	1	6	4	2			TCGA-CH-5744-01A-11D-1576-08	TCGA-CH-5744-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e46606-ecb4-4a53-acaf-e9e46855fe4d	84029535-3038-490b-b904-910d79fce5c8	g.chr11:113105824C>T	ENST00000533760.1	+	13	1978	c.1379C>T	c.(1378-1380)gCg>gTg	p.A460V	NCAM1_ENST00000316851.7_Missense_Mutation_p.A578V|NCAM1_ENST00000397957.4_3'UTR|NCAM1_ENST00000401611.2_Missense_Mutation_p.A587V	NM_001242608.1	NP_001229537.1	P13591	NCAM1_HUMAN	neural cell adhesion molecule 1	588	Ig-like C2-type 5.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cytokine-mediated signaling pathway (GO:0019221)|extracellular matrix organization (GO:0030198)|interferon-gamma-mediated signaling pathway (GO:0060333)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)	p.A587V(2)|p.A578V(2)		breast(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(27)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	49		all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212)		AGGCTGGCGGCGCTCAATGGC	0.587																																						ENST00000316851.7																			4	Substitution - Missense(4)	p.A587V(2)|p.A578V(2)	prostate(4)	breast(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(27)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	49						c.(1732-1734)gCg>gTg		neural cell adhesion molecule 1							27	31	29					11																	113105824		2012	4166	6178	SO:0001583	missense	4684				axon guidance|interferon-gamma-mediated signaling pathway	anchored to membrane|extracellular region|Golgi membrane|integral to membrane		g.chr11:113105824C>T		CCDS73384.1, CCDS73385.1, CCDS73386.1, CCDS73387.1, CCDS73388.1	11q23.2	2013-02-11			ENSG00000149294	ENSG00000149294		"CD molecules", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	7656	protein-coding gene	gene with protein product		116930					Standard	NM_000615		Approved	NCAM, CD56	uc021qqp.1	P13591	OTTHUMG00000167196	ENST00000533760.1:c.1379C>T	11.37:g.113105824C>T	ENSP00000473281:p.Ala460Val					NCAM1_ENST00000401611.2_Missense_Mutation_p.A587V|NCAM1_ENST00000533760.1_Missense_Mutation_p.A460V|NCAM1_ENST00000397957.4_3'UTR	p.A578V	NM_001242607.1|NM_181351.4	NP_001229536.1|NP_851996.2	P13591	NCAM1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212)	13	1733	+		all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207)	588			Fibronectin type-III 1.		A8K8T8|P13592|P13593|Q05C58|Q15829|Q16180|Q16209|Q59FL7|Q86X47|Q96CJ3	Missense_Mutation	SNP	ENST00000533760.1	37	c.1733C>T		.	.	.	.	.	.	.	.	.	.	C	23.5	4.418407	0.83559	.	.	ENSG00000149294	ENST00000531044;ENST00000401611;ENST00000316851;ENST00000433634	T;T	0.69806	-0.43;-0.34	5.84	5.84	0.93424	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.85682	U	0.000000	D	0.83922	0.5359	.	.	.	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.999;0.999	D	0.84963	0.0878	9	0.87932	D	0	-35.8497	20.1336	0.98010	0.0:1.0:0.0:0.0	.	588;578;588;578	P13591-5;P13591-1;P13591;P13591-3	.;.;NCAM1_HUMAN;.	V	460;587;578;22	ENSP00000384055:A587V;ENSP00000318472:A578V	ENSP00000318472:A578V	A	+	2	0	NCAM1	112611034	1.000000	0.71417	0.985000	0.45067	0.079000	0.17450	7.629000	0.83207	2.767000	0.95098	0.591000	0.81541	GCG		0.587	NCAM1-003	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000394068.2	NM_000615		9	15	0	0	0	1	0	9	15					T	113105824	C	T	113105824	3	4	18	1	0	0	0	0	1	0	0	0	10202	768	27	1	1818	1	NCAM1	11	113105824	Missense_Mutation	SNP	C	TCGA-CH-5744-01A-11D-1576-08	56028332	113105824	21900692	27	719											
MLL	4297	broad.mit.edu	37	chr11	118343971	118343971	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggagccctcttctgagagcTccaagatttactccaagtga	11	10	9	11	0	2	3	0	2	2	2	4	5	4	4	3	1	3	1	3	1	3	3			TCGA-CH-5744-01A-11D-1576-08	TCGA-CH-5744-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e46606-ecb4-4a53-acaf-e9e46855fe4d	84029535-3038-490b-b904-910d79fce5c8	g.chr11:118343971T>C	ENST00000389506.5	+	3	2097	c.2097T>C	c.(2095-2097)gcT>gcC	p.A699A	KMT2A_ENST00000354520.4_Silent_p.A699A|KMT2A_ENST00000534358.1_Silent_p.A699A			Q03164	KMT2A_HUMAN	lysine (K)-specific methyltransferase 2A	699					anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|DNA methylation (GO:0006306)|embryonic hemopoiesis (GO:0035162)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|histone H4-K16 acetylation (GO:0043984)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cellular response to drug (GO:2001040)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transporter activity (GO:0032411)|protein complex assembly (GO:0006461)|regulation of histone H3-K4 methylation (GO:0051569)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|histone methyltransferase complex (GO:0035097)|MLL1 complex (GO:0071339)|nucleus (GO:0005634)	AT DNA binding (GO:0003680)|chromatin binding (GO:0003682)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|identical protein binding (GO:0042802)|lysine-acetylated histone binding (GO:0070577)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|unmethylated CpG binding (GO:0045322)|zinc ion binding (GO:0008270)	p.A699A(2)									TTCTGAGAGCTCCAAGATTTA	0.453																																						ENST00000534358.1																			2	Substitution - coding silent(2)	p.A699A(2)	prostate(2)								c.(2095-2097)gcT>gcC		lysine (K)-specific methyltransferase 2A							55	55	55					11																	118343971		2200	4296	6496	SO:0001819	synonymous_variant	4297							g.chr11:118343971T>C	L04284	CCDS31686.1, CCDS55791.1	11q23	2014-09-17	2013-05-09	2013-05-09	ENSG00000118058	ENSG00000118058		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	7132	protein-coding gene	gene with protein product		159555	"myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog)", "myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila)"	MLL		1720549	Standard	NM_001197104		Approved	TRX1, HRX, ALL-1, HTRX1, CXXC7, MLL1A		Q03164	OTTHUMG00000166337	ENST00000389506.5:c.2097T>C	11.37:g.118343971T>C						KMT2A_ENST00000389506.5_Silent_p.A699A|KMT2A_ENST00000354520.4_Silent_p.A699A	p.A699A	NM_001197104.1|NM_005933.3	NP_001184033.1|NP_005924.2					3	2120	+								E9PQG7|Q13743|Q13744|Q14845|Q16364|Q59FF2|Q6UBD1|Q9HBJ3|Q9UD94|Q9UMA3	Silent	SNP	ENST00000389506.5	37	c.2097T>C	CCDS31686.1																																																																																				0.453	KMT2A-015	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399085.2	NM_005933		33	124	0	0	0	1	0	33	124					C	118343971	T	C	118343971	2	2	18	1	0	0	0	0	0	0	0	1	9620	1538	54	4		4	MLL	11	118343971	Silent	SNP	T	TCGA-CH-5744-01A-11D-1576-08	5238147	118343971	16662545	28	720											
OR10G9	219870	broad.mit.edu	37	chr11	123893785	123893785	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccccatgccccagggctggaCgccccactctttggaatctt	6	9	9	17	1	2	0	0	0	2	0	2	2	2	2	6	3	1	1	6	3	1	2			TCGA-CH-5744-01A-11D-1576-08	TCGA-CH-5744-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e46606-ecb4-4a53-acaf-e9e46855fe4d	84029535-3038-490b-b904-910d79fce5c8	g.chr11:123893785C>T	ENST00000375024.1	+	1	66	c.66C>T	c.(64-66)gaC>gaT	p.D22D		NM_001001953.1	NP_001001953.1	Q8NGN4	O10G9_HUMAN	olfactory receptor, family 10, subfamily G, member 9	22						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.D22D(2)|p.D22E(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(33)|prostate(2)|skin(4)|stomach(8)|urinary_tract(1)	61		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		CAGGGCTGGACGCCCCACTCT	0.587																																						ENST00000375024.1																			3	Substitution - coding silent(2)|Substitution - Missense(1)	p.D22D(2)|p.D22E(1)	prostate(1)|lung(1)|endometrium(1)	breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(33)|prostate(2)|skin(4)|stomach(8)|urinary_tract(1)	61						c.(64-66)gaC>gaT		olfactory receptor, family 10, subfamily G, member 9							203	192	196					11																	123893785		2201	4299	6500	SO:0001819	synonymous_variant	219870				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:123893785C>T	AB065756	CCDS31703.1	11q24.1	2012-08-09			ENSG00000236981	ENSG00000236981		"GPCR / Class A : Olfactory receptors"	15129	protein-coding gene	gene with protein product				OR10G10P			Standard	NM_001001953		Approved		uc010sad.2	Q8NGN4	OTTHUMG00000165967	ENST00000375024.1:c.66C>T	11.37:g.123893785C>T							p.D22D	NM_001001953.1	NP_001001953.1	Q8NGN4	O10G9_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)	1	66	+		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	22						Silent	SNP	ENST00000375024.1	37	c.66C>T	CCDS31703.1																																																																																				0.587	OR10G9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387269.1	NM_001001953		18	416	0	0	0	1	0	18	416					T	123893785	C	T	123893785	2	4	18	1	0	0	0	0	0	0	0	1	10904	535	19	1		1	OR10G9	11	123893785	Silent	SNP	C	TCGA-CH-5744-01A-11D-1576-08	5549814	123893785	11112731	29	721											
OR10G7	390265	broad.mit.edu	37	chr11	123909643	123909643	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagattccaaagaggggggcGtccagccctggggcatgggg	9	5	18	9	1	0	2	0	0	0	2	2	2	2	2	3	7	1	1	3	7	2	1	rs370886031		TCGA-CH-5744-01A-11D-1576-08	TCGA-CH-5744-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e46606-ecb4-4a53-acaf-e9e46855fe4d	84029535-3038-490b-b904-910d79fce5c8	g.chr11:123909643G>A	ENST00000330487.5	-	1	74	c.66C>T	c.(64-66)gaC>gaT	p.D22D		NM_001004463.1	NP_001004463.1	Q8NGN6	O10G7_HUMAN	olfactory receptor, family 10, subfamily G, member 7	22						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.D22D(1)		central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(6)|lung(20)|ovary(2)|prostate(2)|stomach(3)|urinary_tract(1)	47		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		AGAGGGGGGCGTCCAGCCCTG	0.562																																						ENST00000330487.5																			1	Substitution - coding silent(1)	p.D22D(1)	prostate(1)	central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(6)|lung(20)|ovary(2)|prostate(2)|stomach(3)|urinary_tract(1)	47						c.(64-66)gaC>gaT		olfactory receptor, family 10, subfamily G, member 7							96	92	93					11																	123909643		2200	4299	6499	SO:0001819	synonymous_variant	390265				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:123909643G>A	AB065754	CCDS31705.1	11q24.1	2012-08-09			ENSG00000182634	ENSG00000182634		"GPCR / Class A : Olfactory receptors"	14842	protein-coding gene	gene with protein product							Standard	NM_001004463		Approved		uc001pzq.1	Q8NGN6	OTTHUMG00000165969	ENST00000330487.5:c.66C>T	11.37:g.123909643G>A							p.D22D	NM_001004463.1	NP_001004463.1	Q8NGN6	O10G7_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)	1	74	-		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	22					Q6IFE8	Silent	SNP	ENST00000330487.5	37	c.66C>T	CCDS31705.1																																																																																				0.562	OR10G7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387271.1	NM_001004463		12	129	0	0	0	1	0	12	129					A	123909643	G	A	123909643	2	1	18	1	0	0	0	0	0	0	0	1	10902	1136	40	1		1	OR10G7	11	123909643	Silent	SNP	G	TCGA-CH-5744-01A-11D-1576-08	15858	123909643	11096873	30	722											
BARX2	8538	broad.mit.edu	37	chr11	129312807	129312807	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gaatcgcaggatgaaatggaAgaaaatggtaagaaaggagt	19	6	14	2	1	0	3	0	1	0	2	1	7	0	6	0	4	0	2	0	4	7	1			TCGA-CH-5744-01A-11D-1576-08	TCGA-CH-5744-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e46606-ecb4-4a53-acaf-e9e46855fe4d	84029535-3038-490b-b904-910d79fce5c8	g.chr11:129312807A>G	ENST00000281437.4	+	3	662	c.566A>G	c.(565-567)aAg>aGg	p.K189R	BARX2_ENST00000531946.1_Missense_Mutation_p.K67R|BARX2_ENST00000526127.1_Missense_Mutation_p.K44R	NM_003658.4	NP_003649.2	Q9UMQ3	BARX2_HUMAN	BARX homeobox 2	189					cartilage condensation (GO:0001502)|catagen (GO:0042637)|myotube differentiation (GO:0014902)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)	p.K189R(1)		breast(1)|central_nervous_system(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	20	all_hematologic(175;0.0749)	Lung NSC(97;0.000383)|all_lung(97;0.000824)|Breast(109;0.000962)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.00929)|Lung(977;0.0245)|LUSC - Lung squamous cell carcinoma(976;0.0253)		ATGAAATGGAAGAAAATGGTA	0.498																																						ENST00000281437.4																			1	Substitution - Missense(1)	p.K189R(1)	prostate(1)	breast(1)|central_nervous_system(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	20						c.(565-567)aAg>aGg		BARX homeobox 2							138	123	128					11																	129312807		2201	4297	6498	SO:0001583	missense	8538							g.chr11:129312807A>G	AF031924	CCDS8481.1	11q24.3	2011-06-20	2007-07-09		ENSG00000043039	ENSG00000043039		"Homeoboxes / ANTP class : NKL subclass"	956	protein-coding gene	gene with protein product		604823	"BarH-like homeobox 2"			10644443	Standard	NM_003658		Approved		uc001qfc.4	Q9UMQ3	OTTHUMG00000165776	ENST00000281437.4:c.566A>G	11.37:g.129312807A>G	ENSP00000281437:p.Lys189Arg					BARX2_ENST00000531946.1_Missense_Mutation_p.K67R|BARX2_ENST00000526127.1_Missense_Mutation_p.K44R	p.K189R	NM_003658.4	NP_003649.2	Q9UMQ3	BARX2_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.00929)|Lung(977;0.0245)|LUSC - Lung squamous cell carcinoma(976;0.0253)	3	662	+	all_hematologic(175;0.0749)	Lung NSC(97;0.000383)|all_lung(97;0.000824)|Breast(109;0.000962)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)	189					O43518|Q6NT51	Missense_Mutation	SNP	ENST00000281437.4	37	c.566A>G	CCDS8481.1	.	.	.	.	.	.	.	.	.	.	A	27.1	4.801801	0.90538	.	.	ENSG00000043039	ENST00000281437;ENST00000526127;ENST00000531946	D;D;D	0.97209	-4.29;-4.29;-4.29	5.47	5.47	0.80525	Homeobox, eukaryotic (1);Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);Homeobox, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.97607	0.9216	L	0.53780	1.695	0.50813	D	0.99989	D	0.76494	0.999	D	0.83275	0.996	D	0.97280	0.9917	10	0.34782	T	0.22	.	14.3869	0.66949	1.0:0.0:0.0:0.0	.	189	Q9UMQ3	BARX2_HUMAN	R	189;44;67	ENSP00000281437:K189R;ENSP00000451113:K44R;ENSP00000450418:K67R	ENSP00000281437:K189R	K	+	2	0	BARX2	128818017	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.962000	0.93254	2.065000	0.61736	0.533000	0.62120	AAG		0.498	BARX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386153.1	NM_003658		7	125	0	0	0	1	0	7	125					G	129312807	A	G	129312807	3	3	18	1	0	0	0	0	1	0	0	0	1316	72	3	4	576	4	BARX2	11	129312807	Missense_Mutation	SNP	A	TCGA-CH-5744-01A-11D-1576-08	5403164	129312807	5693709	31	723											
MBD6	114785	broad.mit.edu	37	chr12	57920425	57920425	+	Frame_Shift_Del	DEL	G	G	-																															caaagcccatccgaaggactGgggatgggggcaggcccggc																										TCGA-CH-5744-01A-11D-1576-08	TCGA-CH-5744-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e46606-ecb4-4a53-acaf-e9e46855fe4d	84029535-3038-490b-b904-910d79fce5c8	g.chr12:57920425delG	ENST00000355673.3	+	7	1853	c.1497delG	c.(1495-1497)ctgfs	p.L499fs	MBD6_ENST00000431731.2_Frame_Shift_Del_p.L499fs	NM_052897.3	NP_443129.3	Q96DN6	MBD6_HUMAN	methyl-CpG binding domain protein 6	499	Pro-rich.					chromocenter (GO:0010369)|nucleus (GO:0005634)	chromatin binding (GO:0003682)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|urinary_tract(1)	31						CCGAAGGACTGGGGATGGGGG	0.647																																						ENST00000355673.3																			0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|urinary_tract(1)	31						c.(1495-1497)ctfs		methyl-CpG binding domain protein 6							42	52	48					12																	57920425		2203	4300	6503	SO:0001589	frameshift_variant	0					chromosome|nucleus	chromatin binding|DNA binding	g.chr12:57920425delG	AB067474	CCDS8944.1	12q13.2	2008-02-05				ENSG00000166987			20445	protein-coding gene	gene with protein product						12529184	Standard	NM_052897		Approved	KIAA1887	uc001soj.1	Q96DN6		ENST00000355673.3:c.1497delG	12.37:g.57920425delG	ENSP00000347896:p.Leu499fs					MBD6_ENST00000431731.2_Frame_Shift_Del_p.L499fs	p.L499fs	NM_052897.3	NP_443129.3	Q96DN6	MBD6_HUMAN			7	1853	+			499			Pro-rich.		Q8N3M0|Q8NA81|Q96Q00	Frame_Shift_Del	DEL	ENST00000355673.3	37	c.1497delG	CCDS8944.1																																																																																				0.647	MBD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407250.1			51	217						51	217	---	---	---	---	-	57920425	G	-	57920425	7	5	18	1	0	1	0	1	0	0	0	0	9348	1335	47	0	1515	0	MBD6	12	57920425	Frame_Shift_Del	DEL	G	TCGA-CH-5744-01A-11D-1576-08		57920425	75931470	32	724											
NAP1L1	4673	broad.mit.edu	37	chr12	76446996	76446996	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	attatttaccttcaggagggGcaaaaaagttaaagaaagag	18	9	10	4	0	1	2	1	0	0	2	1	3	1	3	1	3	1	2	1	3	8	5			TCGA-CH-5744-01A-11D-1576-08	TCGA-CH-5744-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e46606-ecb4-4a53-acaf-e9e46855fe4d	84029535-3038-490b-b904-910d79fce5c8	g.chr12:76446996G>A	ENST00000261182.8	-	10	1391	c.905C>T	c.(904-906)gCc>gTc	p.A302V	NAP1L1_ENST00000547773.1_Missense_Mutation_p.A239V|NAP1L1_ENST00000548044.1_Missense_Mutation_p.A261V|NAP1L1_ENST00000535020.2_Missense_Mutation_p.A302V|NAP1L1_ENST00000393263.3_Missense_Mutation_p.A302V|NAP1L1_ENST00000549596.1_Missense_Mutation_p.A302V|NAP1L1_ENST00000431879.3_Missense_Mutation_p.A234V|NAP1L1_ENST00000547993.1_Missense_Mutation_p.A119V|NAP1L1_ENST00000542344.1_Missense_Mutation_p.A260V|NAP1L1_ENST00000544816.1_Missense_Mutation_p.A119V|NAP1L1_ENST00000552342.1_Missense_Mutation_p.A313V	NM_004537.4|NM_139207.2	NP_004528.1|NP_631946.1	P55209	NP1L1_HUMAN	nucleosome assembly protein 1-like 1	302					DNA replication (GO:0006260)|nucleosome assembly (GO:0006334)|positive regulation of cell proliferation (GO:0008284)	membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.A302V(1)		kidney(1)|large_intestine(1)|lung(3)|ovary(2)|prostate(1)|skin(1)	9		Colorectal(145;0.09)				TTCAGGAGGGGCAAAAAAGTT	0.328																																						ENST00000261182.8																			1	Substitution - Missense(1)	p.A302V(1)	prostate(1)	kidney(1)|large_intestine(1)|lung(3)|ovary(2)|prostate(1)|skin(1)	9						c.(904-906)gCc>gTc		nucleosome assembly protein 1-like 1							97	97	97					12																	76446996		2203	4300	6503	SO:0001583	missense	4673				DNA replication|nucleosome assembly|positive regulation of cell proliferation	chromatin assembly complex|melanosome	protein binding	g.chr12:76446996G>A		CCDS9013.1	12q21.1	2010-03-17			ENSG00000187109	ENSG00000187109			7637	protein-coding gene	gene with protein product		164060				8297347	Standard	NM_004537		Approved	NRP, NAP1, NAP1L, MGC8688, MGC23410	uc001sxx.2	P55209		ENST00000261182.8:c.905C>T	12.37:g.76446996G>A	ENSP00000261182:p.Ala302Val					NAP1L1_ENST00000535020.2_Missense_Mutation_p.A302V|NAP1L1_ENST00000431879.3_Missense_Mutation_p.A234V|NAP1L1_ENST00000547993.1_Missense_Mutation_p.A119V|NAP1L1_ENST00000548044.1_Missense_Mutation_p.A261V|NAP1L1_ENST00000544816.1_Missense_Mutation_p.A119V|NAP1L1_ENST00000552342.1_Missense_Mutation_p.A313V|NAP1L1_ENST00000549596.1_Missense_Mutation_p.A302V|NAP1L1_ENST00000547773.1_Missense_Mutation_p.A239V|NAP1L1_ENST00000393263.3_Missense_Mutation_p.A302V|NAP1L1_ENST00000542344.1_Missense_Mutation_p.A260V	p.A302V	NM_004537.4|NM_139207.2	NP_004528.1|NP_631946.1	P55209	NP1L1_HUMAN			10	1391	-		Colorectal(145;0.09)	302					B3KNT8	Missense_Mutation	SNP	ENST00000261182.8	37	c.905C>T	CCDS9013.1	.	.	.	.	.	.	.	.	.	.	G	17.16	3.319754	0.60524	.	.	ENSG00000187109	ENST00000261182;ENST00000552056;ENST00000393263;ENST00000431879;ENST00000547773;ENST00000544816;ENST00000542344;ENST00000535020;ENST00000549596;ENST00000547993;ENST00000552342;ENST00000548044	T;T;T;T;T;T;T;T;T;T;T;T	0.26223	1.75;1.75;1.75;1.75;1.75;1.75;1.75;1.75;1.75;1.75;1.75;1.75	5.92	4.98	0.66077	.	0.348482	0.31963	N	0.006784	T	0.27697	0.0681	L	0.42686	1.345	0.27306	N	0.957443	B;B;B;B;B;B;B	0.28933	0.228;0.022;0.142;0.108;0.026;0.021;0.011	B;B;B;B;B;B;B	0.35813	0.211;0.079;0.211;0.102;0.051;0.038;0.063	T	0.24657	-1.0154	10	0.72032	D	0.01	.	13.9941	0.64386	0.0:0.314:0.686:0.0	.	302;260;313;302;234;239;302	F5H4R6;B7Z9C2;F8W0J6;B3KNT8;B3KV44;F8W543;P55209	.;.;.;.;.;.;NP1L1_HUMAN	V	302;296;302;234;239;119;260;302;302;119;313;261	ENSP00000261182:A302V;ENSP00000450236:A296V;ENSP00000376947:A302V;ENSP00000409795:A234V;ENSP00000448167:A239V;ENSP00000437507:A119V;ENSP00000444759:A260V;ENSP00000445008:A302V;ENSP00000447793:A302V;ENSP00000448007:A119V;ENSP00000447196:A313V;ENSP00000449649:A261V	ENSP00000261182:A302V	A	-	2	0	NAP1L1	74733263	1.000000	0.71417	0.999000	0.59377	0.948000	0.59901	3.676000	0.54612	2.828000	0.97474	0.650000	0.86243	GCC		0.328	NAP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405850.3	NM_139207		5	197	0	0	0	1	0	5	197					A	76446996	G	A	76446996	3	1	18	1	0	0	0	0	1	0	0	0	10156	1203	42	3	294	3	NAP1L1	12	76446996	Missense_Mutation	SNP	G	TCGA-CH-5744-01A-11D-1576-08	18526571	76446996	57404899	33	725											
SPIC	121599	broad.mit.edu	37	chr12	101876611	101876611	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tttgaaggaaatattcatcaAtctctgcagaacataactga	16	12	6	7	0	3	3	2	2	1	1	4	4	3	4	0	1	3	1	0	1	6	4	rs554489172		TCGA-CH-5744-01A-11D-1576-08	TCGA-CH-5744-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e46606-ecb4-4a53-acaf-e9e46855fe4d	84029535-3038-490b-b904-910d79fce5c8	g.chr12:101876611A>G	ENST00000551346.1	+	5	411	c.252A>G	c.(250-252)caA>caG	p.Q84Q	SPIC_ENST00000299272.5_Silent_p.Q84Q			Q8N5J4	SPIC_HUMAN	Spi-C transcription factor (Spi-1/PU.1 related)	84					blastocyst development (GO:0001824)|cell differentiation (GO:0030154)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)	p.Q84Q(1)		cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(8)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	22						ATATTCATCAATCTCTGCAGA	0.403													A|||	1	0.000199681	8e-04	0	5008	,	,		18572	0		0	False		,,,				2504	0					ENST00000551346.1																			1	Substitution - coding silent(1)	p.Q84Q(1)	prostate(1)	cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(8)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	22						c.(250-252)caA>caG		Spi-C transcription factor (Spi-1/PU.1 related)							139	150	146					12																	101876611		2203	4298	6501	SO:0001819	synonymous_variant	121599					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr12:101876611A>G	AF518404	CCDS9082.1	12q23	2005-10-18				ENSG00000166211			29549	protein-coding gene	gene with protein product		612568				12459275	Standard	NM_152323		Approved	MGC40611, SPI-C	uc021rcq.1	Q8N5J4	OTTHUMG00000170273	ENST00000551346.1:c.252A>G	12.37:g.101876611A>G						SPIC_ENST00000299272.5_Silent_p.Q84Q	p.Q84Q			Q8N5J4	SPIC_HUMAN			5	411	+			84						Silent	SNP	ENST00000551346.1	37	c.252A>G	CCDS9082.1																																																																																				0.403	SPIC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408260.1	NM_152323		131	332	0	0	0	1	0	131	332					G	101876611	A	G	101876611	2	3	18	1	0	0	0	0	0	0	0	1	15050	98	4	4		4	SPIC	12	101876611	Silent	SNP	A	TCGA-CH-5744-01A-11D-1576-08	25429615	101876611	31975284	34	726											
FERMT2	10979	broad.mit.edu	37	chr14	53385917	53385917	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttcaccttcacatacttcatGttgggaagctgcaggcggag	9	11	11	10	1	3	0	3	0	0	0	3	2	3	2	1	3	3	3	1	3	2	5			TCGA-CH-5744-01A-11D-1576-08	TCGA-CH-5744-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e46606-ecb4-4a53-acaf-e9e46855fe4d	84029535-3038-490b-b904-910d79fce5c8	g.chr14:53385917G>T	ENST00000395631.2	-	3	531	c.315C>A	c.(313-315)aaC>aaA	p.N105K	FERMT2_ENST00000343279.4_Missense_Mutation_p.N105K|FERMT2_ENST00000553373.1_Missense_Mutation_p.N105K|FERMT2_ENST00000399304.3_Missense_Mutation_p.N105K|FERMT2_ENST00000341590.3_Missense_Mutation_p.N105K			Q96AC1	FERM2_HUMAN	fermitin family member 2	105					cell junction assembly (GO:0034329)|cell-matrix adhesion (GO:0007160)|focal adhesion assembly (GO:0048041)|integrin activation (GO:0033622)|integrin-mediated signaling pathway (GO:0007229)|protein localization to membrane (GO:0072657)|regulation of cell shape (GO:0008360)|substrate adhesion-dependent cell spreading (GO:0034446)|transforming growth factor beta receptor signaling pathway (GO:0007179)|Wnt signaling pathway (GO:0016055)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|filamentous actin (GO:0031941)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|stress fiber (GO:0001725)	phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)	p.N105K(1)	ERO1L/FERMT2(2)	NS(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	20	Breast(41;0.0342)					CATACTTCATGTTGGGAAGCT	0.398																																						ENST00000395631.2																		ERO1L/FERMT2(2)	1	Substitution - Missense(1)	p.N105K(1)	prostate(1)	NS(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	20						c.(313-315)aaC>aaA		fermitin family member 2							125	117	120					14																	53385917		2203	4300	6503	SO:0001583	missense	10979				actin cytoskeleton organization|cell adhesion|cell junction assembly|regulation of cell shape	cell cortex|cytosol|focal adhesion|stress fiber	binding	g.chr14:53385917G>T	Z24725	CCDS9713.1, CCDS45107.1, CCDS45108.1	14q22.1	2013-01-10	2010-06-24	2007-12-14	ENSG00000073712	ENSG00000073712		"Fermitins", "Pleckstrin homology (PH) domain containing"	15767	protein-coding gene	gene with protein product	"kindlin-2"	607746	"pleckstrin homology domain containing, family C (with FERM domain) member 1", "fermitin family homolog 2 (Drosophila)"	PLEKHC1		8175911, 12697302	Standard	NM_006832		Approved	mig-2, KIND2, UNC112B	uc001xac.3	Q96AC1	OTTHUMG00000140309	ENST00000395631.2:c.315C>A	14.37:g.53385917G>T	ENSP00000378993:p.Asn105Lys					FERMT2_ENST00000341590.3_Missense_Mutation_p.N105K|FERMT2_ENST00000399304.3_Missense_Mutation_p.N105K|FERMT2_ENST00000343279.4_Missense_Mutation_p.N105K|FERMT2_ENST00000553373.1_Missense_Mutation_p.N105K	p.N105K			Q96AC1	FERM2_HUMAN			3	531	-	Breast(41;0.0342)		105					B5TJY2|Q14840|Q86TY7	Missense_Mutation	SNP	ENST00000395631.2	37	c.315C>A	CCDS9713.1	.	.	.	.	.	.	.	.	.	.	G	23.5	4.424070	0.83667	.	.	ENSG00000073712	ENST00000395631;ENST00000341590;ENST00000554152;ENST00000343279;ENST00000553373;ENST00000399304;ENST00000555692;ENST00000554712	T;T;T;T;T;T;T;T	0.78816	-1.21;-1.21;-1.21;-1.21;-1.21;-1.21;2.81;2.81	5.71	4.82	0.62117	FERM, N-terminal (1);Band 4.1 domain (1);	0.000000	0.85682	D	0.000000	D	0.84754	0.5542	L	0.60067	1.865	0.80722	D	1	D;D;P	0.62365	0.991;0.974;0.955	D;D;P	0.65323	0.931;0.934;0.904	D	0.86438	0.1765	10	0.87932	D	0	.	14.7282	0.69360	0.0695:0.0:0.9305:0.0	.	105;105;105	Q96AC1-2;Q96AC1;B5TJY2	.;FERM2_HUMAN;.	K	105;105;47;105;105;105;61;105	ENSP00000378993:N105K;ENSP00000340391:N105K;ENSP00000450741:N47K;ENSP00000342858:N105K;ENSP00000451084:N105K;ENSP00000382243:N105K;ENSP00000452472:N61K;ENSP00000450506:N105K	ENSP00000340391:N105K	N	-	3	2	FERMT2	52455667	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.700000	0.68318	1.430000	0.47334	-0.145000	0.13849	AAC		0.398	FERMT2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276907.2	NM_006832		6	288	1	0	5.9392e-07	1	6.4512e-07	6	288					T	53385917	G	T	53385917	3	4	18	1	0	0	0	0	1	0	0	0	5818	1368	48	5	1816	5	FERMT2	14	53385917	Missense_Mutation	SNP	G	TCGA-CH-5744-01A-11D-1576-08		53385917	53963623	35	727											
EML1	2009	broad.mit.edu	37	chr14	100405575	100405575	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acggaaccgacatcaatgccGtctgtcgggcccatgagaag	11	6	12	12	4	2	1	1	1	1	1	3	4	2	2	3	2	2	0	3	2	3	0			TCGA-CH-5744-01A-11D-1576-08	TCGA-CH-5744-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e46606-ecb4-4a53-acaf-e9e46855fe4d	84029535-3038-490b-b904-910d79fce5c8	g.chr14:100405575G>A	ENST00000262233.6	+	21	2372	c.2233G>A	c.(2233-2235)Gtc>Atc	p.V745I	EML1_ENST00000327921.9_Missense_Mutation_p.V733I|EML1_ENST00000334192.4_Missense_Mutation_p.V764I	NM_004434.2	NP_004425.2	O00423	EMAL1_HUMAN	echinoderm microtubule associated protein like 1	745	Tandem atypical propeller in EMLs.				brain development (GO:0007420)|hematopoietic progenitor cell differentiation (GO:0002244)|microtubule cytoskeleton organization (GO:0000226)|mitotic spindle organization (GO:0007052)|neuroblast proliferation (GO:0007405)	cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)	calcium ion binding (GO:0005509)|microtubule binding (GO:0008017)|tubulin binding (GO:0015631)	p.V764I(1)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Melanoma(154;0.0879)|all_epithelial(191;0.216)				CATCAATGCCGTCTGTCGGGC	0.562																																						ENST00000262233.6																			1	Substitution - Missense(1)	p.V764I(1)	prostate(1)	breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						c.(2233-2235)Gtc>Atc		echinoderm microtubule associated protein like 1							124	110	115					14																	100405575		2203	4300	6503	SO:0001583	missense	2009					cytoplasm|microtubule|microtubule associated complex	calcium ion binding|protein binding	g.chr14:100405575G>A	AK023861	CCDS32154.1, CCDS32155.1	14q32	2013-01-10		2002-02-15		ENSG00000066629		"WD repeat domain containing"	3330	protein-coding gene	gene with protein product		602033		EMAPL		9226380, 10521658	Standard	XM_005267397		Approved	EMAP, HuEMAP, ELP79	uc001ygr.3	O00423		ENST00000262233.6:c.2233G>A	14.37:g.100405575G>A	ENSP00000262233:p.Val745Ile					EML1_ENST00000334192.4_Missense_Mutation_p.V764I|EML1_ENST00000327921.9_Missense_Mutation_p.V733I	p.V745I	NM_004434.2	NP_004425.2	O00423	EMAL1_HUMAN			21	2372	+		Melanoma(154;0.0879)|all_epithelial(191;0.216)	745					Q86U15|Q8N536|Q8N5C4|Q8WWL6	Missense_Mutation	SNP	ENST00000262233.6	37	c.2233G>A	CCDS32155.1	.	.	.	.	.	.	.	.	.	.	G	12.56	1.974659	0.34848	.	.	ENSG00000066629	ENST00000327921;ENST00000262233;ENST00000334192;ENST00000542138	T;T;T	0.20738	2.05;2.05;2.05	4.56	2.67	0.31697	.	0.208970	0.42053	D	0.000761	T	0.21801	0.0525	M	0.68952	2.095	0.46499	D	0.999071	B;B;B	0.22851	0.008;0.076;0.001	B;B;B	0.21151	0.005;0.033;0.003	T	0.06588	-1.0818	10	0.52906	T	0.07	-15.228	9.1438	0.36919	0.2434:0.0:0.7566:0.0	.	733;745;764	F8W717;O00423;O00423-3	.;EMAL1_HUMAN;.	I	733;745;764;764	ENSP00000327384:V733I;ENSP00000262233:V745I;ENSP00000334314:V764I	ENSP00000262233:V745I	V	+	1	0	EML1	99475328	1.000000	0.71417	0.356000	0.25785	0.438000	0.31896	3.852000	0.55934	1.032000	0.39892	0.561000	0.74099	GTC		0.562	EML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413943.1	NM_001008707		36	99	0	0	0	1	0	36	99					A	100405575	G	A	100405575	3	1	18	1	0	0	0	0	1	0	0	0	5096	1145	40	1	2376	1	EML1	14	100405575	Missense_Mutation	SNP	G	TCGA-CH-5744-01A-11D-1576-08	47019658	100405575	6943965	36	728											
C15orf63	25764	broad.mit.edu	37	chr15	44094002	44094002	+	Nonstop_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcttattgccctaaccaacTgatgcgtgctttctcaaata	10	13	6	12	2	1	1	1	1	1	0	2	1	1	1	2	0	5	2	2	0	5	5			TCGA-CH-5744-01A-11D-1576-08	TCGA-CH-5744-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e46606-ecb4-4a53-acaf-e9e46855fe4d	84029535-3038-490b-b904-910d79fce5c8	g.chr15:44094002T>G	ENST00000406925.1	+	5	4499	c.388T>G	c.(388-390)Tga>Gga	p.*130G	SERINC4_ENST00000249714.3_5'Flank|SERF2_ENST00000600633.1_Nonstop_Mutation_p.*130G|SERINC4_ENST00000319327.6_5'Flank|HYPK_ENST00000458412.1_3'UTR|SERF2_ENST00000594896.1_Nonstop_Mutation_p.*176G|RP11-296A16.1_ENST00000417761.2_5'Flank|SERINC4_ENST00000299969.6_5'Flank|HYPK_ENST00000442995.2_Nonstop_Mutation_p.*130G			Q9NX55	HYPK_HUMAN	huntingtin interacting protein K	0						cytoplasm (GO:0005737)|nucleus (GO:0005634)							all_cancers(109;3.26e-11)|all_epithelial(112;4.82e-09)|Lung NSC(122;1.61e-06)|all_lung(180;1.5e-05)|Melanoma(134;0.0417)		GBM - Glioblastoma multiforme(94;8.1e-07)		CCTAACCAACTGATGCGTGCT	0.413																																						ENST00000406925.1																			0											c.(388-390)Tga>Gga		huntingtin interacting protein K							75	69	71					15																	44094002		2198	4298	6496	SO:0001578	stop_lost	25764							g.chr15:44094002T>G	AF049613	CCDS10104.1	15q14	2012-10-08	2012-10-08	2012-10-08	ENSG00000242028	ENSG00000242028			18418	protein-coding gene	gene with protein product	"Huntingtin yeast partner K"	612784	"chromosome 15 open reading frame 63"	C15orf63		9700202, 20154145	Standard	NM_016400		Approved	HSPC136, FLJ20431	uc001ztf.3	Q9NX55	OTTHUMG00000060146	ENST00000406925.1:c.388T>G	15.37:g.44094002T>G	ENSP00000384474:p.*130Glyext*11					SERF2_ENST00000600633.1_Nonstop_Mutation_p.*130G|SERF2_ENST00000594896.1_Nonstop_Mutation_p.*176G|HYPK_ENST00000442995.2_Nonstop_Mutation_p.*130G|HYPK_ENST00000458412.1_3'UTR	p.*130G						GBM - Glioblastoma multiforme(94;8.1e-07)	5	4499	+		all_cancers(109;3.26e-11)|all_epithelial(112;4.82e-09)|Lung NSC(122;1.61e-06)|all_lung(180;1.5e-05)|Melanoma(134;0.0417)						C9JKJ0|O75408|Q8WUW8|Q9P024	Nonstop_Mutation	SNP	ENST00000406925.1	37	c.388T>G	CCDS10104.1	.	.	.	.	.	.	.	.	.	.	T	34	5.379180	0.95945	.	.	ENSG00000242028	ENST00000406925;ENST00000442995	.	.	.	5.33	5.33	0.75918	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.463	0.75373	0.0:0.0:0.0:1.0	.	.	.	.	G	130	.	.	X	+	1	0	C15orf63	41881294	1.000000	0.71417	1.000000	0.80357	0.911000	0.54048	7.824000	0.86668	2.241000	0.73720	0.533000	0.62120	TGA		0.413	HYPK-007	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000133876.3	NM_016400		31	92	0	0	0	1	0	31	92					G	44094002	T	G	44094002	4	3	18	1	0	0	0	0	0	0	0	0	1809	1593	55	5	402	5	C15orf63	15	44094002	Nonstop_Mutation	SNP	T	TCGA-CH-5744-01A-11D-1576-08		44094002	58437390	37	729											
ZNF434	54925	broad.mit.edu	37	chr16	3440104	3440104	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cattcttgctgacagagggaTacagctctgttgtcacgcat	9	12	10	10	1	3	2	1	1	2	1	3	3	3	3	0	1	3	4	0	1	1	4			TCGA-CH-5744-01A-11D-1576-08	TCGA-CH-5744-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e46606-ecb4-4a53-acaf-e9e46855fe4d	84029535-3038-490b-b904-910d79fce5c8	g.chr16:3440104T>A	ENST00000396852.4	-	5	964	c.657A>T	c.(655-657)gtA>gtT	p.V219V	ZSCAN32_ENST00000422427.2_Silent_p.V7V|ZSCAN32_ENST00000396846.3_Silent_p.V219V|ZSCAN32_ENST00000573830.1_Intron|ZSCAN32_ENST00000439568.2_Intron|ZSCAN32_ENST00000574940.1_Silent_p.V219V|ZSCAN32_ENST00000304926.3_Silent_p.V7V	NM_001284527.1|NM_001284529.1	NP_001271456.1|NP_001271458.1	Q9NX65	ZSC32_HUMAN	zinc finger and SCAN domain containing 32	219	KRAB.				regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)	p.V7V(1)									GACAGAGGGATACAGCTCTGT	0.582																																						ENST00000396852.4																			1	Substitution - coding silent(1)	p.V7V(1)	prostate(1)								c.(655-657)gtA>gtT		zinc finger and SCAN domain containing 32							78	56	63					16																	3440104		2197	4300	6497	SO:0001819	synonymous_variant	54925							g.chr16:3440104T>A	AK000424	CCDS10503.1, CCDS66920.1, CCDS66921.1	16p13.3	2013-01-09	2013-01-09	2013-01-09	ENSG00000140987	ENSG00000140987		"-", "Zinc fingers, C2H2-type"	20812	protein-coding gene	gene with protein product			"zinc finger protein 434"	ZNF434			Standard	XM_005255402		Approved	FLJ20417	uc002cux.4	Q9NX65	OTTHUMG00000129357	ENST00000396852.4:c.657A>T	16.37:g.3440104T>A						ZSCAN32_ENST00000396846.3_Silent_p.V219V|ZSCAN32_ENST00000439568.2_Intron|ZSCAN32_ENST00000574940.1_Silent_p.V219V|ZSCAN32_ENST00000573830.1_Intron|ZSCAN32_ENST00000422427.2_Silent_p.V7V|LA16c-306E5.2_ENST00000575785.1_RNA|ZSCAN32_ENST00000304926.3_Silent_p.V7V	p.V219V							5	964	-								B4DWL5|C9JB03|Q6WMU8|Q7Z6G2|Q8NFX8|Q9BU74	Silent	SNP	ENST00000396852.4	37	c.657A>T																																																																																					0.582	ZSCAN32-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000251509.2	NM_017810		13	39	0	0	0	1	0	13	39					A	3440104	T	A	3440104	2	1	18	1	0	0	0	0	0	0	0	1	17905	1393	49	5		5	ZNF434	16	3440104	Silent	SNP	T	TCGA-CH-5744-01A-11D-1576-08		3440104	86914649	38	730											
KIAA0100	9703	broad.mit.edu	37	chr17	26961608	26961608	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tctaatccctcagggggaaaAgggctgcctggatcaagctc	10	8	12	11	0	3	0	2	0	1	0	5	2	4	2	2	4	2	2	2	4	4	1			TCGA-CH-5744-01A-11D-1576-08	TCGA-CH-5744-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e46606-ecb4-4a53-acaf-e9e46855fe4d	84029535-3038-490b-b904-910d79fce5c8	g.chr17:26961608A>G	ENST00000528896.2	-	16	3071	c.2997T>C	c.(2995-2997)ccT>ccC	p.P999P	KIAA0100_ENST00000544884.1_Silent_p.P856P|RP11-192H23.7_ENST00000577814.1_RNA|RP11-192H23.7_ENST00000583787.1_RNA|KIAA0100_ENST00000389003.3_Silent_p.P856P	NM_014680.3	NP_055495.2	Q14667	K0100_HUMAN	KIAA0100	999						extracellular region (GO:0005576)		p.P999P(1)		breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3)	68	Lung NSC(42;0.00431)					CAGGGGGAAAAGGGCTGCCTG	0.493																																						ENST00000528896.2																			1	Substitution - coding silent(1)	p.P999P(1)	prostate(1)	breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3)	68						c.(2995-2997)ccT>ccC		KIAA0100							110	106	107					17																	26961608		2203	4300	6503	SO:0001819	synonymous_variant	9703					extracellular region		g.chr17:26961608A>G	D43947	CCDS32595.1	17q11.2	2012-11-29			ENSG00000007202	ENSG00000007202			28960	protein-coding gene	gene with protein product	"cancer/testis antigen 101", "breast cancer overexpressed gene 1"	610664				16289875	Standard	NM_014680		Approved	DKFZp686M0843, MGC111488, BCOX1, CT101, BCOX	uc002hbu.3	Q14667	OTTHUMG00000166587	ENST00000528896.2:c.2997T>C	17.37:g.26961608A>G						RP11-192H23.7_ENST00000577814.1_RNA|KIAA0100_ENST00000544884.1_Silent_p.P856P|KIAA0100_ENST00000389003.3_Silent_p.P856P	p.P999P	NM_014680.3	NP_055495.2	Q14667	K0100_HUMAN			16	3071	-	Lung NSC(42;0.00431)		999					A6NCX3|Q3SYN5|Q49A07|Q5H9T4|Q6WG74|Q6ZP51|Q96HH8	Silent	SNP	ENST00000528896.2	37	c.2997T>C	CCDS32595.1																																																																																				0.493	KIAA0100-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390571.3	NM_014680		4	223	0	0	0	1	0	4	223					G	26961608	A	G	26961608	2	3	18	1	0	0	0	0	0	0	0	1	8154	59	3	4		4	KIAA0100	17	26961608	Silent	SNP	A	TCGA-CH-5744-01A-11D-1576-08		26961608	54233602	39	731											
ZNF521	25925	broad.mit.edu	37	chr18	22804338	22804338	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ctgggagggactgattctggGcattggtgatacttggggcg	6	11	18	6	1	1	2	0	2	1	0	1	4	1	4	0	6	1	1	0	6	1	4			TCGA-CH-5744-01A-11D-1576-08	TCGA-CH-5744-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e46606-ecb4-4a53-acaf-e9e46855fe4d	84029535-3038-490b-b904-910d79fce5c8	g.chr18:22804338G>A	ENST00000361524.3	-	4	3692	c.3544C>T	c.(3544-3546)Ccc>Tcc	p.P1182S	ZNF521_ENST00000538137.2_Missense_Mutation_p.P1182S|ZNF521_ENST00000584787.1_Missense_Mutation_p.P962S	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521	1182					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein domain specific binding (GO:0019904)			NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					CTGATTCTGGGCATTGGTGAT	0.478			T	PAX5	ALL																																	ENST00000361524.3				Dom	yes		18	18q11.2	25925	T	zinc finger protein 521			L	PAX5		ALL		0				NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149						c.(3544-3546)Ccc>Tcc		zinc finger protein 521							138	133	135					18																	22804338		2203	4300	6503	SO:0001583	missense	25925				cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein domain specific binding|zinc ion binding	g.chr18:22804338G>A	AK027354	CCDS32806.1	18q11.2	2013-01-08				ENSG00000198795		"Zinc fingers, C2H2-type"	24605	protein-coding gene	gene with protein product	"early hematopoietic zinc finger"	610974				11984006, 14630787	Standard	NM_015461		Approved	EHZF, Evi3	uc002kvk.2	Q96K83		ENST00000361524.3:c.3544C>T	18.37:g.22804338G>A	ENSP00000354794:p.Pro1182Ser					ZNF521_ENST00000584787.1_Missense_Mutation_p.P962S|ZNF521_ENST00000538137.2_Missense_Mutation_p.P1182S	p.P1182S	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN			4	3692	-	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)		1182					A3QVP7|B0YJB7|Q8IXI0|Q8TES6|Q9C065|Q9HAL5|Q9UFK4	Missense_Mutation	SNP	ENST00000361524.3	37	c.3544C>T	CCDS32806.1	.	.	.	.	.	.	.	.	.	.	G	11.12	1.545980	0.27652	.	.	ENSG00000198795	ENST00000361524;ENST00000538137;ENST00000399425	T;T	0.22336	3.09;1.96	5.98	5.98	0.97165	.	0.055326	0.85682	D	0.000000	T	0.25044	0.0608	L	0.32530	0.975	0.48632	D	0.999684	P	0.45827	0.867	P	0.45639	0.488	T	0.00282	-1.1850	10	0.32370	T	0.25	-32.5297	20.4581	0.99154	0.0:0.0:1.0:0.0	.	1182	Q96K83	ZN521_HUMAN	S	1182;1216;1182	ENSP00000354794:P1182S;ENSP00000382352:P1182S	ENSP00000354794:P1182S	P	-	1	0	ZNF521	21058336	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	6.171000	0.71926	2.835000	0.97688	0.650000	0.86243	CCC		0.478	ZNF521-001	KNOWN	overlapping_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446781.2	NM_015461		4	191	0	0	0	1	0	4	191					A	22804338	G	A	22804338	3	1	18	1	0	0	0	0	1	0	0	0	17962	1203	42	3	411	3	ZNF521	18	22804338	Missense_Mutation	SNP	G	TCGA-CH-5744-01A-11D-1576-08		22804338	55272910	40	732											
TMEM146	257062	broad.mit.edu	37	chr19	5768180	5768180	+	Splice_Site	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtccacttttgcttgcagcAaagtttccgcctgttccatg	6	15	8	12	1	0	0	0	0	0	0	3	0	3	0	4	0	3	5	4	0	1	5			TCGA-CH-5744-01A-11D-1576-08	TCGA-CH-5744-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e46606-ecb4-4a53-acaf-e9e46855fe4d	84029535-3038-490b-b904-910d79fce5c8	g.chr19:5768180A>C	ENST00000381624.3	+	18	1622	c.1561A>C	c.(1561-1563)Aaa>Caa	p.K521Q	CATSPERD_ENST00000381614.2_Splice_Site_p.K179Q|CATSPERD_ENST00000309164.7_3'UTR	NM_152784.3	NP_689997.3	Q86XM0	CTSRD_HUMAN	catsper channel auxiliary subunit delta	521					multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|single fertilization (GO:0007338)|sperm capacitation (GO:0048240)|sperm motility (GO:0030317)|sperm-egg recognition (GO:0035036)|spermatogenesis (GO:0007283)	CatSper complex (GO:0036128)|plasma membrane (GO:0005886)|sperm principal piece (GO:0097228)		p.K521Q(1)									TGCTTGCAGCAAAGTTTCCGC	0.537																																						ENST00000381624.3																			1	Substitution - Missense(1)	p.K521Q(1)	prostate(1)								c.e18-1		catsper channel auxiliary subunit delta							80	78	79					19																	5768180		2049	4184	6233	SO:0001630	splice_region_variant	257062					integral to membrane		g.chr19:5768180A>C	BC043005	CCDS12149.2	19p13.3	2013-10-11	2012-02-22	2012-02-22	ENSG00000174898	ENSG00000174898			28598	protein-coding gene	gene with protein product			"transmembrane protein 146"	TMEM146		21224844	Standard	NM_152784		Approved	MGC39581	uc002mda.3	Q86XM0	OTTHUMG00000143036	ENST00000381624.3:c.1560-1A>C	19.37:g.5768180A>C						CATSPERD_ENST00000381614.2_Splice_Site_p.K179_splice|CATSPERD_ENST00000309164.7_3'UTR	p.K521_splice	NM_152784.3	NP_689997.3	Q86XM0	TM146_HUMAN			18	1622	+			521					Q6ZRP1	Splice_Site	SNP	ENST00000381624.3	37	c.1559_splice	CCDS12149.2	.	.	.	.	.	.	.	.	.	.	A	9.643	1.139406	0.21205	.	.	ENSG00000174898	ENST00000394548;ENST00000381624;ENST00000381614;ENST00000309164;ENST00000381613	T;T	0.24151	1.87;1.87	3.44	-1.2	0.09554	.	1.341520	0.05524	N	0.562664	T	0.21590	0.0520	L	0.47190	1.495	0.09310	N	1	B;P	0.35272	0.358;0.493	B;B	0.32864	0.154;0.107	T	0.30416	-0.9979	10	0.49607	T	0.09	-4.726	6.7767	0.23624	0.6431:0.0:0.3569:0.0	.	447;521	B7WNK5;Q86XM0	.;TM146_HUMAN	Q	447;521;179;192;190	ENSP00000371037:K521Q;ENSP00000371027:K179Q	ENSP00000310546:K192Q	K	+	1	0	TMEM146	5719180	0.010000	0.17322	0.005000	0.12908	0.008000	0.06430	0.061000	0.14366	-0.229000	0.09854	0.449000	0.29647	AAA		0.537	CATSPERD-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000286953.2	NM_152784	Missense_Mutation	39	104	0	0	0	1	0	39	104					C	5768180	A	C	5768180	5	2	18	1	0	0	0	0	0	0	1	0	16057	144	5	5	1631	5	TMEM146	19	5768180	Splice_Site	SNP	A	TCGA-CH-5744-01A-11D-1576-08		5768180	53360803	41	733											
LDLR	3949	broad.mit.edu	37	chr19	11227612	11227612	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgatgtcaacgggggcaacCggaagaccatcttggaggat	11	7	14	9	3	2	1	1	0	1	1	3	5	2	4	2	5	2	1	2	5	3	1	rs373371572		TCGA-CH-5744-01A-11D-1576-08	TCGA-CH-5744-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e46606-ecb4-4a53-acaf-e9e46855fe4d	84029535-3038-490b-b904-910d79fce5c8	g.chr19:11227612C>T	ENST00000558518.1	+	12	1970	c.1783C>T	c.(1783-1785)Cgg>Tgg	p.R595W	LDLR_ENST00000545707.1_Missense_Mutation_p.R468W|LDLR_ENST00000535915.1_Missense_Mutation_p.R554W|LDLR_ENST00000455727.2_Missense_Mutation_p.R427W|LDLR_ENST00000558013.1_Missense_Mutation_p.R595W|LDLR_ENST00000557933.1_Missense_Mutation_p.R595W	NM_000527.4|NM_001195798.1	NP_000518.1|NP_001182727.1	P01130	LDLR_HUMAN	low density lipoprotein receptor	595					cholesterol homeostasis (GO:0042632)|cholesterol import (GO:0070508)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|endocytosis (GO:0006897)|intestinal cholesterol absorption (GO:0030299)|lipid metabolic process (GO:0006629)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|low-density lipoprotein particle clearance (GO:0034383)|phospholipid transport (GO:0015914)|phototransduction, visible light (GO:0007603)|positive regulation of triglyceride biosynthetic process (GO:0010867)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol homeostasis (GO:2000188)|regulation of phosphatidylcholine catabolic process (GO:0010899)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cell surface (GO:0009986)|clathrin-coated endocytic vesicle membrane (GO:0030669)|coated pit (GO:0005905)|early endosome (GO:0005769)|endosome membrane (GO:0010008)|external side of plasma membrane (GO:0009897)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|low-density lipoprotein particle (GO:0034362)|lysosome (GO:0005764)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|glycoprotein binding (GO:0001948)|low-density lipoprotein particle binding (GO:0030169)|low-density lipoprotein receptor activity (GO:0005041)|very-low-density lipoprotein particle receptor activity (GO:0030229)	p.R595W(1)|p.?(1)		breast(2)|endometrium(2)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Lung NSC(9;0.000245)|Renal(1328;0.0007)|Hepatocellular(1079;0.0524)		GBM - Glioblastoma multiforme(1328;1.36e-05)|STAD - Stomach adenocarcinoma(1328;0.000766)|Lung(535;0.197)	Porfimer(DB00707)	CGGGGGCAACCGGAAGACCAT	0.542																																					GBM(18;201 575 7820 21545)	ENST00000558518.1																			2	Substitution - Missense(1)|Unknown(1)	p.R595W(1)|p.?(1)	prostate(1)|lung(1)	breast(2)|endometrium(2)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	GRCh37	CM014579	LDLR	M		c.(1783-1785)Cgg>Tgg		low density lipoprotein receptor	Methyl aminolevulinate(DB00992)|Porfimer(DB00707)	C	TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG	0,4406		0,0,2203	230	205	214		1783,1783,1660,1279,1420,1402	3.2	1	19		214	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense,missense,missense	LDLR	NM_000527.4,NM_001195798.1,NM_001195799.1,NM_001195800.1,NM_001195802.1,NM_001195803.1	101,101,101,101,101,101	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	595/861,595/859,554/820,427/693,474/740,468/683	11227612	1,13005	2203	4300	6503	SO:0001583	missense	3949				cholesterol homeostasis|cholesterol metabolic process|interspecies interaction between organisms|intestinal cholesterol absorption|low-density lipoprotein particle clearance|receptor-mediated endocytosis	clathrin-coated endocytic vesicle membrane|coated pit|early endosome|endosome membrane|external side of plasma membrane|integral to plasma membrane|low-density lipoprotein particle|lysosome	calcium ion binding|low-density lipoprotein receptor activity|protein binding|very-low-density lipoprotein particle receptor activity	g.chr19:11227612C>T	AY114155	CCDS12254.1, CCDS56083.1, CCDS56084.1, CCDS56085.1, CCDS58651.1	19p13.2	2014-09-17	2008-08-01		ENSG00000130164	ENSG00000130164		"Low density lipoprotein receptors"	6547	protein-coding gene	gene with protein product	"familial hypercholesterolemia"	606945					Standard	NM_000527		Approved	LDLCQ2	uc002mqk.4	P01130		ENST00000558518.1:c.1783C>T	19.37:g.11227612C>T	ENSP00000454071:p.Arg595Trp					LDLR_ENST00000535915.1_Missense_Mutation_p.R554W|LDLR_ENST00000545707.1_Missense_Mutation_p.R468W|LDLR_ENST00000558013.1_Missense_Mutation_p.R595W|LDLR_ENST00000557933.1_Missense_Mutation_p.R595W|LDLR_ENST00000455727.2_Missense_Mutation_p.R427W	p.R595W	NM_000527.4|NM_001195798.1	NP_000518.1|NP_001182727.1	P01130	LDLR_HUMAN		GBM - Glioblastoma multiforme(1328;1.36e-05)|STAD - Stomach adenocarcinoma(1328;0.000766)|Lung(535;0.197)	12	1970	+		Lung NSC(9;0.000245)|Renal(1328;0.0007)|Hepatocellular(1079;0.0524)	595					B4DII3|B4DJZ8|B4DR00|B4DTQ3|C0JYY8|H0YLU8|H0YNT7|Q53ZD9|Q59FQ1|Q9UDH7	Missense_Mutation	SNP	ENST00000558518.1	37	c.1783C>T	CCDS12254.1	.	.	.	.	.	.	.	.	.	.	C	14.46	2.543341	0.45280	0.0	1.16E-4	ENSG00000130164	ENST00000252444;ENST00000545707;ENST00000535915;ENST00000455727	D;D;D	0.97665	-4.48;-4.48;-4.48	5.48	3.24	0.37175	Six-bladed beta-propeller, TolB-like (1);Growth factor, receptor (1);	0.000000	0.56097	D	0.000027	D	0.98814	0.9600	H	0.96777	3.88	0.58432	D	0.999997	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	1.0;1.0;0.999;0.999;1.0;1.0	D	0.98914	1.0781	10	0.87932	D	0	.	11.1964	0.48715	0.5654:0.4346:0.0:0.0	.	427;468;474;554;607;595	B4DR00;B4DJZ8;B4DII3;B4DTQ3;Q59FQ1;P01130	.;.;.;.;.;LDLR_HUMAN	W	595;468;554;427	ENSP00000437639:R468W;ENSP00000440520:R554W;ENSP00000397829:R427W	ENSP00000252444:R595W	R	+	1	2	LDLR	11088612	0.287000	0.24315	0.989000	0.46669	0.082000	0.17680	0.818000	0.27295	1.283000	0.44513	0.462000	0.41574	CGG		0.542	LDLR-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000415973.2			73	342	0	0	0	1	0	73	342					T	11227612	C	T	11227612	3	4	18	1	0	0	0	0	1	0	0	0	8704	643	23	2	1829	2	LDLR	19	11227612	Missense_Mutation	SNP	C	TCGA-CH-5744-01A-11D-1576-08	5459432	11227612	47901371	42	734											
JAK3	3718	broad.mit.edu	37	chr19	17950419	17950419	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggccaaccagaaggaaggtTcctgtggggctgcgccggat	9	6	16	10	2	0	1	0	0	0	1	1	3	1	3	4	6	2	2	4	6	3	1			TCGA-CH-5744-01A-11D-1576-08	TCGA-CH-5744-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e46606-ecb4-4a53-acaf-e9e46855fe4d	84029535-3038-490b-b904-910d79fce5c8	g.chr19:17950419T>A	ENST00000527670.1	-	9	1337	c.1308A>T	c.(1306-1308)ggA>ggT	p.G436G	JAK3_ENST00000534444.1_Silent_p.G436G|JAK3_ENST00000458235.1_Silent_p.G436G|JAK3_ENST00000526008.1_5'UTR			P52333	JAK3_HUMAN	Janus kinase 3	436	SH2; atypical.				B cell differentiation (GO:0030183)|enzyme linked receptor protein signaling pathway (GO:0007167)|innate immune response (GO:0045087)|interleukin-4-mediated signaling pathway (GO:0035771)|intracellular signal transduction (GO:0035556)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|negative regulation of dendritic cell cytokine production (GO:0002731)|negative regulation of FasL biosynthetic process (GO:0045221)|negative regulation of interleukin-10 production (GO:0032693)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of T cell activation (GO:0050868)|negative regulation of T-helper 1 cell differentiation (GO:0045626)|negative regulation of thymocyte apoptotic process (GO:0070244)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of dendritic cell apoptotic process (GO:2000670)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of T cell apoptotic process (GO:0070232)|response to interleukin-15 (GO:0070672)|response to interleukin-2 (GO:0070669)|response to interleukin-4 (GO:0070670)|response to interleukin-9 (GO:0071104)|STAT protein import into nucleus (GO:0007262)|T cell homeostasis (GO:0043029)|tyrosine phosphorylation of STAT protein (GO:0007260)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)	p.G436G(2)		breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(85)|kidney(4)|large_intestine(11)|lung(22)|ovary(3)|prostate(5)|skin(1)|stomach(2)|upper_aerodigestive_tract(5)	147					Tofacitinib(DB08895)	GAAGGAAGGTTCCTGTGGGGC	0.612		2	Mis		"acute megakaryocytic leukemia, ETP ALL"																																	ENST00000458235.1		2		Dom	yes		19	19p13.1	3718	Mis	Janus kinase 3			L			"acute megakaryocytic leukemia, ETP ALL"		2	Substitution - coding silent(2)	p.G436G(2)	prostate(2)	breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(85)|kidney(4)|large_intestine(11)|lung(22)|ovary(3)|prostate(5)|skin(1)|stomach(2)|upper_aerodigestive_tract(5)	147						c.(1306-1308)ggA>ggT		Janus kinase 3							34	31	32					19																	17950419		2203	4300	6503	SO:0001819	synonymous_variant	3718				B cell differentiation|cytokine-mediated signaling pathway|enzyme linked receptor protein signaling pathway|intracellular protein kinase cascade|negative regulation of dendritic cell cytokine production|negative regulation of FasL biosynthetic process|negative regulation of interleukin-10 production|negative regulation of interleukin-12 production|negative regulation of T-helper 1 cell differentiation|negative regulation of thymocyte apoptosis|peptidyl-tyrosine phosphorylation|positive regulation of anti-apoptosis|response to interleukin-15|response to interleukin-2|response to interleukin-4|response to interleukin-9|T cell homeostasis	cytoskeleton|cytosol|endomembrane system|membrane	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding	g.chr19:17950419T>A	U31601	CCDS12366.1	19p13-p12	2014-09-17	2009-04-23		ENSG00000105639	ENSG00000105639	2.7.10.1		6193	protein-coding gene	gene with protein product	"tyrosine-protein kinase JAK3", "leukocyte Janus kinase"	600173				8921370, 9226382	Standard	NM_000215		Approved	L-JAK, JAKL, LJAK, JAK3_HUMAN, JAK-3	uc002nhn.4	P52333	OTTHUMG00000165648	ENST00000527670.1:c.1308A>T	19.37:g.17950419T>A						JAK3_ENST00000527670.1_Silent_p.G436G|JAK3_ENST00000534444.1_Silent_p.G436G|JAK3_ENST00000526008.1_5'UTR	p.G436G	NM_000215.3	NP_000206.2	P52333	JAK3_HUMAN			10	1407	-			436			SH2; atypical.		Q13259|Q13260|Q13611|Q8N1E8|Q99699|Q9Y6S2	Silent	SNP	ENST00000527670.1	37	c.1308A>T	CCDS12366.1																																																																																				0.612	JAK3-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385549.1	NM_000215		5	30	0	0	0	1	0	5	30					A	17950419	T	A	17950419	2	1	18	1	0	0	0	0	0	0	0	1	7939	1770	62	5		5	JAK3	19	17950419	Silent	SNP	T	TCGA-CH-5744-01A-11D-1576-08	6722807	17950419	41178564	43	735											
TSKS	60385	broad.mit.edu	37	chr19	50248602	50248602	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agcagccgcagggcttcctgCaccgccccctcctcctgatg	5	7	10	19	2	0	1	0	1	0	0	3	1	3	1	7	1	3	4	7	1	0	1			TCGA-CH-5744-01A-11D-1576-08	TCGA-CH-5744-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e46606-ecb4-4a53-acaf-e9e46855fe4d	84029535-3038-490b-b904-910d79fce5c8	g.chr19:50248602C>T	ENST00000246801.3	-	7	1126	c.1044G>A	c.(1042-1044)gtG>gtA	p.V348V	TSKS_ENST00000358830.3_Silent_p.V148V	NM_021733.1	NP_068379.1	Q9UJT2	TSKS_HUMAN	testis-specific serine kinase substrate	348					negative regulation of phosphatase activity (GO:0010923)	centriole (GO:0005814)	protein kinase binding (GO:0019901)	p.V348V(1)		breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|prostate(3)|skin(3)	38		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(134;0.0145)		GGGCTTCCTGCACCGCCCCCT	0.706																																						ENST00000246801.3																			1	Substitution - coding silent(1)	p.V348V(1)	prostate(1)	breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|prostate(3)|skin(3)	38						c.(1042-1044)gtG>gtA		testis-specific serine kinase substrate							11	12	12					19																	50248602		2195	4273	6468	SO:0001819	synonymous_variant	60385						protein binding	g.chr19:50248602C>T	BC058862	CCDS12780.1	19q13.3	2014-06-13							30719	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 161"	608253				11444856, 18495105	Standard	NM_021733		Approved	TSSKS, PPP1R161	uc002ppm.3	Q9UJT2		ENST00000246801.3:c.1044G>A	19.37:g.50248602C>T						TSKS_ENST00000358830.3_Silent_p.V148V	p.V348V	NM_021733.1	NP_068379.1	Q9UJT2	TSKS_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(134;0.0145)	7	1126	-		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)	348					Q8WXJ0	Silent	SNP	ENST00000246801.3	37	c.1044G>A	CCDS12780.1																																																																																				0.706	TSKS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465795.1	NM_021733		3	8	0	0	0	1	0	3	8					T	50248602	C	T	50248602	2	4	18	1	0	0	0	0	0	0	0	1	16623	697	25	3		3	TSKS	19	50248602	Silent	SNP	C	TCGA-CH-5744-01A-11D-1576-08	32298183	50248602	8880381	44	736											
ZSCAN1	284312	broad.mit.edu	37	chr19	58565060	58565060	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcgtgggccccgaggtgggCggcccttccagtgtgccgac	3	6	17	15	5	0	0	0	0	0	0	1	2	1	0	5	4	1	0	5	4	0	1			TCGA-CH-5744-01A-11D-1576-08	TCGA-CH-5744-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e46606-ecb4-4a53-acaf-e9e46855fe4d	84029535-3038-490b-b904-910d79fce5c8	g.chr19:58565060C>A	ENST00000282326.1	+	6	1115	c.868C>A	c.(868-870)Cgg>Agg	p.R290R		NM_182572.3	NP_872378.3	Q8NBB4	ZSCA1_HUMAN	zinc finger and SCAN domain containing 1	290					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|transcription coactivator activity (GO:0003713)	p.R290R(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)		CCGAGGTGGGCGGCCCTTCCA	0.652																																						ENST00000282326.1																			1	Substitution - coding silent(1)	p.R290R(1)	prostate(1)	NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						c.(868-870)Cgg>Agg		zinc finger and SCAN domain containing 1							62	60	61					19																	58565060		2203	4300	6503	SO:0001819	synonymous_variant	284312				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:58565060C>A	AK091098	CCDS12969.1	19q13.43	2013-06-13	2004-04-21		ENSG00000152467	ENSG00000152467		"-", "Zinc fingers, C2H2-type"	23712	protein-coding gene	gene with protein product			"zinc finger with SCAN domain 1"			12477932	Standard	NM_182572		Approved	FLJ33779, ZNF915	uc002qrc.1	Q8NBB4	OTTHUMG00000183381	ENST00000282326.1:c.868C>A	19.37:g.58565060C>A							p.R290R	NM_182572.3	NP_872378.3	Q8NBB4	ZSCA1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)	6	1115	+		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)	290					Q3B798|Q6WLH8|Q86WS8	Silent	SNP	ENST00000282326.1	37	c.868C>A	CCDS12969.1																																																																																				0.652	ZSCAN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466427.1	NM_182572		4	100	1	0	0.00024832	1	0.000256462	4	100					A	58565060	C	A	58565060	2	1	18	1	0	0	0	0	0	0	0	1	18223	759	27	5		5	ZSCAN1	19	58565060	Silent	SNP	C	TCGA-CH-5744-01A-11D-1576-08	8316458	58565060	563923	45	737											
SNX12	29934	broad.mit.edu	37	chrX	70280884	70280884	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctactggcgcaccttcccCgggacgtagttcctgtcaat	6	11	9	15	3	1	0	1	0	0	0	4	1	4	1	5	2	1	3	5	2	3	4			TCGA-CH-5744-01A-11D-1576-08	TCGA-CH-5744-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e46606-ecb4-4a53-acaf-e9e46855fe4d	84029535-3038-490b-b904-910d79fce5c8	g.chrX:70280884C>A	ENST00000374274.3	-	4	587	c.471G>T	c.(469-471)ccG>ccT	p.P157P	SNX12_ENST00000276105.3_Silent_p.P153P|SNX12_ENST00000465030.1_5'UTR	NM_001256185.1|NM_001256188.1|NM_013346.3	NP_001243114.1|NP_001243117.1|NP_037478.2	Q9UMY4	SNX12_HUMAN	sorting nexin 12	157					intracellular protein transport (GO:0006886)|negative regulation of early endosome to late endosome transport (GO:2000642)|negative regulation of gene expression (GO:0010629)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of protein processing (GO:0010955)|negative regulation of protein transport (GO:0051224)|regulation of endocytosis (GO:0030100)	early endosome (GO:0005769)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	enzyme binding (GO:0019899)|phosphatidylinositol binding (GO:0035091)	p.P157P(1)		endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	8	Renal(35;0.156)					GCACCTTCCCCGGGACGTAGT	0.512																																						ENST00000374274.3																			1	Substitution - coding silent(1)	p.P157P(1)	prostate(1)	endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	8						c.(469-471)ccG>ccT		sorting nexin 12							87	65	72					X																	70280884		2203	4300	6503	SO:0001819	synonymous_variant	29934				cell communication|protein transport	membrane	phosphatidylinositol binding|protein binding	g.chrX:70280884C>A	AF171229	CCDS14405.1, CCDS59169.1	Xq13.1	2008-03-11			ENSG00000147164	ENSG00000147164		"Sorting nexins"	14976	protein-coding gene	gene with protein product		300883					Standard	NM_013346		Approved		uc004dyr.2	Q9UMY4	OTTHUMG00000021786	ENST00000374274.3:c.471G>T	X.37:g.70280884C>A						SNX12_ENST00000465030.1_5'UTR|SNX12_ENST00000276105.3_Silent_p.P153P	p.P157P	NM_001256185.1|NM_001256188.1|NM_013346.3	NP_001243114.1|NP_001243117.1|NP_037478.2	Q9UMY4	SNX12_HUMAN			4	587	-	Renal(35;0.156)		157					F8W8K5|Q8WUG9	Silent	SNP	ENST00000374274.3	37	c.471G>T	CCDS14405.1																																																																																				0.512	SNX12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057094.1	NM_013346		3	22	1	0	1	1	1	3	22					A	70280884	C	A	70280884	2	1	18	1	0	0	0	0	0	0	0	1	14883	639	23	5		5	SNX12	23	70280884	Silent	SNP	C	TCGA-CH-5744-01A-11D-1576-08		70280884	84989676	46	738											
SPTA1	6708	broad.mit.edu	37	chr1	158617396	158617396	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccttacgatcctttgtacGcccctgcaggtcttcccagg	5	12	8	16	2	1	0	0	0	1	0	4	1	4	0	5	2	3	2	5	2	2	4	rs143642542	byFrequency	TCGA-CH-5745-01A-11D-1576-08	TCGA-CH-5745-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51db8439-c35f-472e-baf0-8e6e22833c39	e32b30c3-6ed3-42ce-ad17-69b26146f7e4	g.chr1:158617396G>A	ENST00000368147.4	-	27	4009	c.3829C>T	c.(3829-3831)Cgt>Tgt	p.R1277C		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	1277					actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)	p.R1277C(1)		NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					TCCTTTGTACGCCCCTGCAGG	0.562													G|||	8	0.00159744	0.0023	0.0043	5008	,	,		18162	0.001		0	False		,,,				2504	0.001					ENST00000368148.3																			1	Substitution - Missense(1)	p.R1277C(1)	prostate(1)	NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307						c.(3829-3831)Cgt>Tgt		spectrin, alpha, erythrocytic 1 (elliptocytosis 2)		G	CYS/ARG	2,3948		0,2,1973	113	114	114		3829	-1.1	0	1	dbSNP_134	114	0,8296		0,0,4148	yes	missense	SPTA1	NM_003126.2	180	0,2,6121	AA,AG,GG		0.0,0.0506,0.0163	benign	1277/2420	158617396	2,12244	1975	4148	6123	SO:0001583	missense	6708				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	g.chr1:158617396G>A	M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"EF-hand domain containing"	11272	protein-coding gene	gene with protein product	"elliptocytosis 2"	182860	"spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.3829C>T	1.37:g.158617396G>A	ENSP00000357129:p.Arg1277Cys					SPTA1_ENST00000368147.3_Missense_Mutation_p.R1277C	p.R1277C	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN			27	4009	-	all_hematologic(112;0.0378)		1277					Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Missense_Mutation	SNP	ENST00000368147.4	37	c.3829C>T	CCDS41423.1	3	0.0013736263736263737	3	0.006097560975609756	0	0.0	0	0.0	0	0.0	G	5.969	0.362783	0.11296	5.06E-4	0.0	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.52526	0.66;0.66	4.43	-1.13	0.09775	.	.	.	.	.	T	0.17916	0.0430	L	0.45352	1.415	0.09310	N	1	B	0.16396	0.017	B	0.18561	0.022	T	0.37407	-0.9707	9	0.59425	D	0.04	.	7.7532	0.28909	0.1407:0.362:0.4973:0.0	.	1277	P02549	SPTA1_HUMAN	C	1277	ENSP00000357130:R1277C;ENSP00000357129:R1277C	ENSP00000357129:R1277C	R	-	1	0	SPTA1	156884020	0.161000	0.22892	0.000000	0.03702	0.013000	0.08279	2.855000	0.48333	-0.293000	0.08986	0.563000	0.77884	CGT		0.562	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126		14	208	0	0	0	1	0	14	208					A	158617396	G	A	158617396	3	1	19	1	0	0	0	0	1	0	0	0	15115	1087	38	1	3534	1	SPTA1	1	158617396	Missense_Mutation	SNP	G	TCGA-CH-5745-01A-11D-1576-08		158617396	90633225	1	739											
HMCN1	83872	broad.mit.edu	37	chr1	186094769	186094769	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cagaagtacagaaggacactAcacggtcaatgagaattcac	17	6	9	9	1	2	3	2	1	0	3	2	5	2	4	0	2	2	1	0	2	6	3			TCGA-CH-5745-01A-11D-1576-08	TCGA-CH-5745-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51db8439-c35f-472e-baf0-8e6e22833c39	e32b30c3-6ed3-42ce-ad17-69b26146f7e4	g.chr1:186094769A>G	ENST00000271588.4	+	82	12762	c.12533A>G	c.(12532-12534)tAc>tGc	p.Y4178C	HMCN1_ENST00000367492.2_Missense_Mutation_p.Y4178C	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	4178	Ig-like C2-type 41.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)	p.Y4178C(1)		NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						GAAGGACACTACACGGTCAAT	0.388																																						ENST00000271588.4																			1	Substitution - Missense(1)	p.Y4178C(1)	prostate(1)	NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						c.(12532-12534)tAc>tGc		hemicentin 1							85	85	85					1																	186094769		2203	4300	6503	SO:0001583	missense	83872				response to stimulus|visual perception	basement membrane	calcium ion binding	g.chr1:186094769A>G	AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"Fibulins", "Immunoglobulin superfamily / I-set domain containing"	19194	protein-coding gene	gene with protein product	"fibulin 6"	608548	"age-related macular degeneration 1 (senile macular degeneration)"	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.12533A>G	1.37:g.186094769A>G	ENSP00000271588:p.Tyr4178Cys					HMCN1_ENST00000367492.2_Missense_Mutation_p.Y4178C	p.Y4178C	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN			82	12762	+			4178			Ig-like C2-type 41.		A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Missense_Mutation	SNP	ENST00000271588.4	37	c.12533A>G	CCDS30956.1	.	.	.	.	.	.	.	.	.	.	A	16.61	3.170264	0.57584	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	T;T	0.66995	-0.24;-0.24	5.04	3.89	0.44902	Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.201533	0.41294	D	0.000907	T	0.65668	0.2713	L	0.28192	0.835	0.27006	N	0.96481	D	0.71674	0.998	D	0.64506	0.926	T	0.56329	-0.7997	10	0.37606	T	0.19	.	7.7084	0.28663	0.7168:0.1448:0.0:0.1384	.	4178	Q96RW7	HMCN1_HUMAN	C	4178	ENSP00000271588:Y4178C;ENSP00000356462:Y4178C	ENSP00000271588:Y4178C	Y	+	2	0	HMCN1	184361392	1.000000	0.71417	0.973000	0.42090	0.967000	0.64934	2.944000	0.49034	0.827000	0.34685	0.528000	0.53228	TAC		0.388	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935		5	98	0	0	0	1	0	5	98					G	186094769	A	G	186094769	3	3	19	1	0	0	0	0	1	0	0	0	7220	391	14	4	12859	4	HMCN1	1	186094769	Missense_Mutation	SNP	A	TCGA-CH-5745-01A-11D-1576-08	27477373	186094769	63155852	2	740											
CFHR5	81494	broad.mit.edu	37	chr1	196977769	196977769	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tatcatcaccaccatttcgaGcaatctgtcaggaagggaaa	14	9	8	10	1	4	0	3	0	1	0	5	3	4	2	2	2	1	1	2	2	4	2			TCGA-CH-5745-01A-11D-1576-08	TCGA-CH-5745-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51db8439-c35f-472e-baf0-8e6e22833c39	e32b30c3-6ed3-42ce-ad17-69b26146f7e4	g.chr1:196977769G>A	ENST00000256785.4	+	10	1775	c.1666G>A	c.(1666-1668)Gca>Aca	p.A556T	CFHR5_ENST00000367414.5_Missense_Mutation_p.A580T			Q9BXR6	FHR5_HUMAN	complement factor H-related 5	556	Sushi 9. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation, alternative pathway (GO:0006957)	extracellular region (GO:0005576)				NS(2)|breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(23)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	49						ACCATTTCGAGCAATCTGTCA	0.363																																						ENST00000367414.5																			0				NS(2)|breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(23)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	49						c.(1738-1740)Gca>Aca		complement factor H-related 5							113	105	107					1																	196977769		2203	4300	6503	SO:0001583	missense	81494				complement activation, alternative pathway	extracellular region		g.chr1:196977769G>A	AF295327	CCDS1387.1	1q31.3	2014-09-17		2006-02-28	ENSG00000134389	ENSG00000134389		"Complement system"	24668	protein-coding gene	gene with protein product	"factor H related protein 5"	608593		CFHL5		11058592, 12041828	Standard	NM_030787		Approved	FHR5, FHR-5	uc001gts.4	Q9BXR6	OTTHUMG00000036517	ENST00000256785.4:c.1666G>A	1.37:g.196977769G>A	ENSP00000256785:p.Ala556Thr					CFHR5_ENST00000256785.4_Missense_Mutation_p.A556T	p.A580T	NM_030787.3	NP_110414.1	Q9BXR6	FHR5_HUMAN			10	1794	+			556					Q2NKK2	Missense_Mutation	SNP	ENST00000256785.4	37	c.1738G>A	CCDS1387.1	.	.	.	.	.	.	.	.	.	.	G	8.818	0.936874	0.18206	.	.	ENSG00000134389	ENST00000367414;ENST00000256785	D;D	0.82893	-1.66;-1.66	4.62	-1.79	0.07932	Complement control module (1);Sushi/SCR/CCP (1);	.	.	.	.	T	0.63212	0.2492	N	0.16478	0.41	0.09310	N	1	B	0.27971	0.196	B	0.28784	0.094	T	0.50338	-0.8840	9	0.14656	T	0.56	.	4.2478	0.10680	0.4335:0.0:0.4111:0.1554	.	556	Q9BXR6	FHR5_HUMAN	T	580;556	ENSP00000356384:A580T;ENSP00000256785:A556T	ENSP00000256785:A556T	A	+	1	0	CFHR5	195244392	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.711000	0.05019	-0.112000	0.11979	-0.291000	0.09656	GCA		0.363	CFHR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088814.2	NM_030787		3	176	0	0	0	1	0	3	176					A	196977769	G	A	196977769	3	1	19	1	0	0	0	0	1	0	0	0	3288	971	34	3	1704	3	CFHR5	1	196977769	Missense_Mutation	SNP	G	TCGA-CH-5745-01A-11D-1576-08	10883000	196977769	52272852	3	741											
UGP2	7360	broad.mit.edu	37	chr2	64114692	64114692	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tggtgatgtcaaacctctatAgtcttaatgcaggatctctg	10	14	9	8	0	4	1	1	1	3	0	5	2	4	2	1	2	2	1	1	2	4	3			TCGA-CH-5745-01A-11D-1576-08	TCGA-CH-5745-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51db8439-c35f-472e-baf0-8e6e22833c39	e32b30c3-6ed3-42ce-ad17-69b26146f7e4	g.chr2:64114692A>T	ENST00000337130.5	+	8	1704	c.1228A>T	c.(1228-1230)Agt>Tgt	p.S410C	UGP2_ENST00000467648.2_Missense_Mutation_p.S399C|UGP2_ENST00000394417.2_Missense_Mutation_p.S399C|UGP2_ENST00000445915.2_Missense_Mutation_p.S419C	NM_006759.3	NP_006750.3	Q16851	UGPA_HUMAN	UDP-glucose pyrophosphorylase 2	410					carbohydrate metabolic process (GO:0005975)|cellular glucuronidation (GO:0052695)|glucose 1-phosphate metabolic process (GO:0019255)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|small molecule metabolic process (GO:0044281)|UDP-glucose metabolic process (GO:0006011)|UDP-glucuronate biosynthetic process (GO:0006065)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	glucose binding (GO:0005536)|metal ion binding (GO:0046872)|pyrimidine ribonucleotide binding (GO:0032557)|UTP:glucose-1-phosphate uridylyltransferase activity (GO:0003983)	p.S410C(1)		endometrium(2)|kidney(1)|large_intestine(8)|lung(6)|prostate(1)	18						AAACCTCTATAGTCTTAATGC	0.403																																						ENST00000337130.5																			1	Substitution - Missense(1)	p.S410C(1)	prostate(1)	endometrium(2)|kidney(1)|large_intestine(8)|lung(6)|prostate(1)	18						c.(1228-1230)Agt>Tgt		UDP-glucose pyrophosphorylase 2							142	143	143					2																	64114692		2203	4300	6503	SO:0001583	missense	7360				glycogen biosynthetic process|phosphorylation|UDP-glucose metabolic process|UDP-glucuronate biosynthetic process|xenobiotic metabolic process	cytosol	metal ion binding|protein binding|UTP:glucose-1-phosphate uridylyltransferase activity	g.chr2:64114692A>T		CCDS1875.1, CCDS42690.1	2p14-p13	2012-10-02			ENSG00000169764	ENSG00000169764	2.7.7.9		12527	protein-coding gene	gene with protein product		191760	"UDP-glucose pyrophosphorylase 1"	UGP1			Standard	NM_006759		Approved	UGPP1	uc002scm.3	Q16851	OTTHUMG00000129513	ENST00000337130.5:c.1228A>T	2.37:g.64114692A>T	ENSP00000338703:p.Ser410Cys					UGP2_ENST00000467648.2_Missense_Mutation_p.S399C|UGP2_ENST00000445915.2_Missense_Mutation_p.S419C|UGP2_ENST00000394417.2_Missense_Mutation_p.S399C	p.S410C	NM_006759.3	NP_006750.3	Q16851	UGPA_HUMAN			8	1704	+			410					Q07131|Q0P6K2|Q86Y81|Q9BU15	Missense_Mutation	SNP	ENST00000337130.5	37	c.1228A>T	CCDS1875.1	.	.	.	.	.	.	.	.	.	.	A	25.9	4.684678	0.88639	.	.	ENSG00000169764	ENST00000394417;ENST00000467648;ENST00000337130;ENST00000445915	T;T;T;T	0.19105	2.17;2.17;2.17;2.17	5.81	5.81	0.92471	.	0.000000	0.85682	D	0.000000	T	0.39600	0.1084	L	0.55103	1.725	0.80722	D	1	D;D	0.63880	0.993;0.987	P;P	0.61275	0.886;0.84	T	0.06807	-1.0806	10	0.45353	T	0.12	-23.1089	16.1536	0.81640	1.0:0.0:0.0:0.0	.	419;410	E7EUC7;Q16851	.;UGPA_HUMAN	C	399;399;410;419	ENSP00000377939:S399C;ENSP00000420793:S399C;ENSP00000338703:S410C;ENSP00000411803:S419C	ENSP00000338703:S410C	S	+	1	0	UGP2	63968196	1.000000	0.71417	0.992000	0.48379	0.974000	0.67602	9.335000	0.96500	2.203000	0.70933	0.528000	0.53228	AGT		0.403	UGP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251688.1	NM_006759		8	246	0	0	0	1	0	8	246					T	64114692	A	T	64114692	3	4	19	1	0	0	0	0	1	0	0	0	16940	420	15	5	1258	5	UGP2	2	64114692	Missense_Mutation	SNP	A	TCGA-CH-5745-01A-11D-1576-08		64114692	179084681	4	742											
LOXL3	84695	broad.mit.edu	37	chr2	74763166	74763166	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gtaggttgcaccggaccccgGcatcctggctatgtgaacaa	9	8	12	12	2	0	1	0	1	0	0	1	2	1	2	4	4	2	5	4	4	4	3			TCGA-CH-5745-01A-11D-1576-08	TCGA-CH-5745-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51db8439-c35f-472e-baf0-8e6e22833c39	e32b30c3-6ed3-42ce-ad17-69b26146f7e4	g.chr2:74763166G>A	ENST00000264094.3	-	7	1276	c.1205C>T	c.(1204-1206)gCc>gTc	p.A402V	LOXL3_ENST00000409549.1_Missense_Mutation_p.A402V|LOXL3_ENST00000409986.1_Missense_Mutation_p.A257V|LOXL3_ENST00000409249.1_Intron|LOXL3_ENST00000393937.2_Missense_Mutation_p.A257V	NM_032603.2	NP_115992.1	P58215	LOXL3_HUMAN	lysyl oxidase-like 3	402	SRCR 3. {ECO:0000255|PROSITE- ProRule:PRU00196}.				epithelial to mesenchymal transition (GO:0001837)|negative regulation of transcription, DNA-templated (GO:0045892)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)|nucleus (GO:0005634)	copper ion binding (GO:0005507)|protein-lysine 6-oxidase activity (GO:0004720)|scavenger receptor activity (GO:0005044)	p.A402V(1)		endometrium(7)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	30						CCGGACCCCGGCATCCTGGCT	0.552																																						ENST00000264094.3																			1	Substitution - Missense(1)	p.A402V(1)	prostate(1)	endometrium(7)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	30						c.(1204-1206)gCc>gTc		lysyl oxidase-like 3							96	95	95					2																	74763166		2203	4300	6503	SO:0001583	missense	84695					extracellular space|membrane	copper ion binding|protein-lysine 6-oxidase activity|scavenger receptor activity	g.chr2:74763166G>A	AF282619	CCDS1953.1, CCDS74527.1	2p13	2008-05-23			ENSG00000115318	ENSG00000115318			13869	protein-coding gene	gene with protein product		607163				11386757	Standard	NM_032603		Approved		uc002smp.1	P58215	OTTHUMG00000129953	ENST00000264094.3:c.1205C>T	2.37:g.74763166G>A	ENSP00000264094:p.Ala402Val					LOXL3_ENST00000393937.2_Missense_Mutation_p.A257V|LOXL3_ENST00000409549.1_Missense_Mutation_p.A402V|LOXL3_ENST00000409986.1_Missense_Mutation_p.A257V|LOXL3_ENST00000409249.1_Intron	p.A402V	NM_032603.2	NP_115992.1	P58215	LOXL3_HUMAN			7	1276	-			402			SRCR 3.		D6W5J1|Q2EHP2|Q6IPL7|Q96RS1	Missense_Mutation	SNP	ENST00000264094.3	37	c.1205C>T	CCDS1953.1	.	.	.	.	.	.	.	.	.	.	G	24.4	4.528667	0.85706	.	.	ENSG00000115318	ENST00000264094;ENST00000393937;ENST00000409549;ENST00000409986	T;T;T;T	0.36878	1.23;1.23;1.23;1.23	5.09	5.09	0.68999	Speract/scavenger receptor (3);Speract/scavenger receptor-related (2);	0.000000	0.85682	D	0.000000	T	0.53318	0.1789	L	0.48877	1.53	0.58432	D	0.999998	D;D;D;D	0.89917	1.0;0.995;0.995;0.999	D;D;D;D	0.97110	1.0;0.98;0.951;0.998	T	0.45234	-0.9275	10	0.42905	T	0.14	.	16.3805	0.83460	0.0:0.0:1.0:0.0	.	257;402;257;402	B9A025;E7END4;Q6IPL7;P58215	.;.;.;LOXL3_HUMAN	V	402;257;402;257	ENSP00000264094:A402V;ENSP00000377512:A257V;ENSP00000386696:A402V;ENSP00000386545:A257V	ENSP00000264094:A402V	A	-	2	0	LOXL3	74616674	1.000000	0.71417	0.966000	0.40874	0.757000	0.42996	5.383000	0.66219	2.806000	0.96561	0.551000	0.68910	GCC		0.552	LOXL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252215.1	NM_032603		5	162	0	0	0	1	0	5	162					A	74763166	G	A	74763166	3	1	19	1	0	0	0	0	1	0	0	0	8901	1203	42	3	1088	3	LOXL3	2	74763166	Missense_Mutation	SNP	G	TCGA-CH-5745-01A-11D-1576-08	10648474	74763166	168436207	5	743											
NCKAP5	344148	broad.mit.edu	37	chr2	133540002	133540002	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggggggcttctgaactcacaGcatcagtcgcggttgcagag	8	8	15	10	2	3	2	2	1	1	1	4	2	3	2	0	4	3	4	0	4	1	2			TCGA-CH-5745-01A-11D-1576-08	TCGA-CH-5745-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51db8439-c35f-472e-baf0-8e6e22833c39	e32b30c3-6ed3-42ce-ad17-69b26146f7e4	g.chr2:133540002G>A	ENST00000409261.1	-	14	4755	c.4382C>T	c.(4381-4383)gCt>gTt	p.A1461V	NCKAP5_ENST00000405974.3_Intron|NCKAP5_ENST00000409213.1_Intron|NCKAP5_ENST00000317721.6_Missense_Mutation_p.A1461V|NCKAP5_ENST00000473859.1_5'Flank	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	1461								p.A1461V(1)		NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						TGAACTCACAGCATCAGTCGC	0.502																																						ENST00000409261.1																			1	Substitution - Missense(1)	p.A1461V(1)	prostate(1)	NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						c.(4381-4383)gCt>gTt		NCK-associated protein 5							56	55	55					2																	133540002		1919	4119	6038	SO:0001583	missense	344148						protein binding	g.chr2:133540002G>A	AB005217	CCDS46417.1, CCDS46418.1	2q21.2	2010-02-17			ENSG00000176771	ENSG00000176771			29847	protein-coding gene	gene with protein product	"Nck associated protein 5", "peripheral clock protein"	608789				9344857	Standard	NM_207363		Approved	NAP5, ERIH1, ERIH2	uc002ttp.3	O14513	OTTHUMG00000153573	ENST00000409261.1:c.4382C>T	2.37:g.133540002G>A	ENSP00000387128:p.Ala1461Val					NCKAP5_ENST00000409213.1_Intron|NCKAP5_ENST00000405974.3_Intron|NCKAP5_ENST00000317721.6_Missense_Mutation_p.A1461V	p.A1461V	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN			14	4755	-			1461					B8ZZL0|Q29SS9|Q29ST0|Q2NL90|Q6ZVE2|Q8NAS3	Missense_Mutation	SNP	ENST00000409261.1	37	c.4382C>T	CCDS46418.1	.	.	.	.	.	.	.	.	.	.	G	0.100	-1.153672	0.01700	.	.	ENSG00000176771	ENST00000409261;ENST00000317721	T;T	0.09538	2.97;2.97	5.5	-0.0545	0.13813	.	1.109510	0.07254	N	0.866385	T	0.03783	0.0107	N	0.03608	-0.345	0.09310	N	1	B	0.11235	0.004	B	0.09377	0.004	T	0.45483	-0.9258	10	0.13108	T	0.6	.	3.2344	0.06760	0.4019:0.0:0.2672:0.3309	.	1461	O14513	NCKP5_HUMAN	V	1461	ENSP00000387128:A1461V;ENSP00000380603:A1461V	ENSP00000380603:A1461V	A	-	2	0	NCKAP5	133256472	0.001000	0.12720	0.002000	0.10522	0.304000	0.27724	0.899000	0.28417	0.101000	0.17610	0.655000	0.94253	GCT		0.502	NCKAP5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331663.1	NM_207481		19	68	0	0	0	1	0	19	68					A	133540002	G	A	133540002	3	1	19	1	0	0	0	0	1	0	0	0	10223	971	34	3	1375	3	NCKAP5	2	133540002	Missense_Mutation	SNP	G	TCGA-CH-5745-01A-11D-1576-08	58776836	133540002	109659371	6	744											
MCM6	4175	broad.mit.edu	37	chr2	136630397	136630397	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgcaagtatttaatttctcCatcgctgctctgaaacctgc	9	15	6	11	1	2	1	0	1	2	0	4	1	2	1	2	0	4	4	2	0	4	5			TCGA-CH-5745-01A-11D-1576-08	TCGA-CH-5745-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51db8439-c35f-472e-baf0-8e6e22833c39	e32b30c3-6ed3-42ce-ad17-69b26146f7e4	g.chr2:136630397C>A	ENST00000264156.2	-	2	184	c.124G>T	c.(124-126)Gga>Tga	p.G42*		NM_005915.5	NP_005906.2	Q14566	MCM6_HUMAN	minichromosome maintenance complex component 6	42					DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA unwinding involved in DNA replication (GO:0006268)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)	MCM complex (GO:0042555)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA helicase activity (GO:0003678)|identical protein binding (GO:0042802)|single-stranded DNA binding (GO:0003697)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(15)|prostate(2)|skin(1)	29				BRCA - Breast invasive adenocarcinoma(221;0.166)		TTAATTTCTCCATCGCTGCTC	0.403																																					Ovarian(196;141 2104 8848 24991 25939)	ENST00000264156.2																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(15)|prostate(2)|skin(1)	29						c.(124-126)Gga>Tga		minichromosome maintenance complex component 6	Atorvastatin(DB01076)						128	119	122					2																	136630397		2203	4300	6503	SO:0001587	stop_gained	4175				cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	MCM complex	ATP binding|identical protein binding	g.chr2:136630397C>A		CCDS2179.1	2q14-q21	2008-02-05	2007-04-04		ENSG00000076003	ENSG00000076003			6949	protein-coding gene	gene with protein product	"MIS5 homolog (S.pombe)"	601806	"minichromosome maintenance deficient (mis5, S. pombe) 6", "MCM6 minichromosome maintenance deficient 6 (MIS5 homolog, S. pombe) (S. cerevisiae)", "minichromosome maintenance deficient 6 homolog (S. cerevisiae)"				Standard	NM_005915		Approved	Mis5	uc002tuw.4	Q14566	OTTHUMG00000131739	ENST00000264156.2:c.124G>T	2.37:g.136630397C>A	ENSP00000264156:p.Gly42*						p.G42*	NM_005915.5	NP_005906.2	Q14566	MCM6_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.166)	2	184	-			42					B2R6H2|Q13504|Q99859	Nonsense_Mutation	SNP	ENST00000264156.2	37	c.124G>T	CCDS2179.1	.	.	.	.	.	.	.	.	.	.	C	37	6.166919	0.97343	.	.	ENSG00000076003	ENST00000264156	.	.	.	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.45353	T	0.12	-20.2996	19.7324	0.96188	0.0:1.0:0.0:0.0	.	.	.	.	X	42	.	ENSP00000264156:G42X	G	-	1	0	MCM6	136346867	1.000000	0.71417	1.000000	0.80357	0.906000	0.53458	6.031000	0.70911	2.663000	0.90544	0.655000	0.94253	GGA		0.403	MCM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254658.1	NM_005915		4	171	1	0	1	1	1	4	171					A	136630397	C	A	136630397	4	1	19	1	0	0	0	0	0	1	0	0	9391	603	21	5	2405	5	MCM6	2	136630397	Nonsense_Mutation	SNP	C	TCGA-CH-5745-01A-11D-1576-08	3090395	136630397	106568976	7	745											
XIRP2	129446	broad.mit.edu	37	chr2	168106327	168106327	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggaagcaaagagaatttagcGgatctgacagagggaaactt	16	7	13	5	1	1	3	0	1	1	2	1	7	1	6	0	3	3	1	0	3	5	3			TCGA-CH-5745-01A-11D-1576-08	TCGA-CH-5745-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51db8439-c35f-472e-baf0-8e6e22833c39	e32b30c3-6ed3-42ce-ad17-69b26146f7e4	g.chr2:168106327G>A	ENST00000409195.1	+	9	8514	c.8425G>A	c.(8425-8427)Gga>Aga	p.G2809R	XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.G2809R|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.G2587R|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000420519.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	2634					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						AGAATTTAGCGGATCTGACAG	0.403																																						ENST00000409195.1																			0				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						c.(8425-8427)Gga>Aga		xin actin-binding repeat containing 2							69	68	68					2																	168106327		1854	4096	5950	SO:0001583	missense	129446				actin cytoskeleton organization	cell junction	actin binding	g.chr2:168106327G>A	AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"myomaxin"	609778	"cardiomyopathy associated 3"	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409195.1:c.8425G>A	2.37:g.168106327G>A	ENSP00000386840:p.Gly2809Arg					XIRP2_ENST00000295237.9_Missense_Mutation_p.G2809R|XIRP2_ENST00000409273.1_Missense_Mutation_p.G2587R|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409728.1_Intron	p.G2809R	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN			9	8514	+			2634					A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Missense_Mutation	SNP	ENST00000409195.1	37	c.8425G>A	CCDS42769.1	.	.	.	.	.	.	.	.	.	.	G	2.909	-0.225702	0.06022	.	.	ENSG00000163092	ENST00000409195;ENST00000295237;ENST00000409273;ENST00000413534	T;T;T	0.02323	4.34;4.34;4.34	6.02	3.21	0.36854	.	0.737730	0.13531	N	0.380944	T	0.01870	0.0059	N	0.22421	0.69	0.09310	N	1	B;B;B	0.31879	0.233;0.344;0.344	B;B;B	0.22386	0.017;0.039;0.039	T	0.49652	-0.8917	10	0.21014	T	0.42	-2.1874	5.1586	0.15048	0.293:0.1419:0.5652:0.0	.	2634;2634;2587	A4UGR9;A4UGR9-3;A4UGR9-2	XIRP2_HUMAN;.;.	R	2809;2809;2587;223	ENSP00000386840:G2809R;ENSP00000295237:G2809R;ENSP00000387255:G2587R	ENSP00000295237:G2809R	G	+	1	0	XIRP2	167814573	0.077000	0.21312	0.000000	0.03702	0.001000	0.01503	0.738000	0.26158	0.411000	0.25702	0.655000	0.94253	GGA		0.403	XIRP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333547.1	NM_152381		4	97	0	0	0	1	0	4	97					A	168106327	G	A	168106327	3	1	19	1	0	0	0	0	1	0	0	0	17427	1117	39	2	8455	2	XIRP2	2	168106327	Missense_Mutation	SNP	G	TCGA-CH-5745-01A-11D-1576-08	31475930	168106327	75093046	8	746											
PIKFYVE	200576	broad.mit.edu	37	chr2	209212747	209212747	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atcaaggcgttgagcctcaaGgtgtgttaaagaagagtaaa	15	9	12	5	1	2	3	2	1	0	2	2	3	2	3	1	2	1	3	1	2	7	3			TCGA-CH-5745-01A-11D-1576-08	TCGA-CH-5745-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51db8439-c35f-472e-baf0-8e6e22833c39	e32b30c3-6ed3-42ce-ad17-69b26146f7e4	g.chr2:209212747G>A	ENST00000264380.4	+	35	5532	c.5374G>A	c.(5374-5376)Gat>Aat	p.D1792N		NM_015040.3	NP_055855.2	Q9Y2I7	FYV1_HUMAN	phosphoinositide kinase, FYVE finger containing	1792	PIPK. {ECO:0000255|PROSITE- ProRule:PRU00781}.				cellular protein metabolic process (GO:0044267)|intracellular signal transduction (GO:0035556)|myelin assembly (GO:0032288)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phospholipid metabolic process (GO:0006644)|protein localization to nucleus (GO:0034504)|retrograde transport, endosome to Golgi (GO:0042147)|small molecule metabolic process (GO:0044281)	cell-cell junction (GO:0005911)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|early endosome membrane (GO:0031901)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|late endosome membrane (GO:0031902)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|vesicle membrane (GO:0012506)	1-phosphatidylinositol-3-phosphate 5-kinase activity (GO:0000285)|1-phosphatidylinositol-4-phosphate 5-kinase activity (GO:0016308)|ATP binding (GO:0005524)|phosphatidylinositol-3,5-bisphosphate 5-phosphatase activity (GO:0043813)|zinc ion binding (GO:0008270)	p.D1792N(2)		NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(14)|kidney(6)|large_intestine(25)|lung(40)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	107						TGAGCCTCAAGGTGTGTTAAA	0.408																																						ENST00000264380.4																			2	Substitution - Missense(2)	p.D1792N(2)	prostate(2)	NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(14)|kidney(6)|large_intestine(25)|lung(40)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	107						c.e35+1		phosphoinositide kinase, FYVE finger containing							103	101	102					2																	209212747		2203	4300	6503	SO:0001630	splice_region_variant	200576				cellular protein metabolic process|intracellular signal transduction|protein localization to nucleus|retrograde transport, endosome to Golgi	early endosome membrane|membrane raft	1-phosphatidylinositol-3-phosphate 5-kinase activity|1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|metal ion binding|protein binding	g.chr2:209212747G>A	AB023198	CCDS2382.1, CCDS33368.1, CCDS54431.1	2q34	2014-01-15	2009-04-17	2009-04-17	ENSG00000115020	ENSG00000115020		"Zinc fingers, FYVE domain containing"	23785	protein-coding gene	gene with protein product	"zinc finger, FYVE domain containing 29"	609414	"phosphatidylinositol-3-phosphate/phosphatidylinositol 5-kinase, type III"	PIP5K3		9858586, 12270933	Standard	NM_015040		Approved	MGC40423, KIAA0981, PIKfyve, PIP5K, p235, ZFYVE29, FAB1	uc002vcz.3	Q9Y2I7	OTTHUMG00000132945	ENST00000264380.4:c.5374+1G>A	2.37:g.209212747G>A							p.D1792_splice	NM_015040.3	NP_055855.2	Q9Y2I7	FYV1_HUMAN			35	5532	+			1792			PIPK.		Q08AR7|Q08AR8|Q53ST3|Q53T36|Q8N5H0|Q8NB67	Splice_Site	SNP	ENST00000264380.4	37	c.5374_splice	CCDS2382.1	.	.	.	.	.	.	.	.	.	.	G	18.07	3.542378	0.65198	.	.	ENSG00000115020	ENST00000264380	T	0.29655	1.56	5.58	5.58	0.84498	Phosphatidylinositol-4-phosphate 5-kinase, core (1);Phosphatidylinositol-4-phosphate 5-kinase, core, subgroup (1);	0.206161	0.50627	D	0.000101	T	0.25269	0.0614	L	0.27053	0.805	0.80722	D	1	B	0.06786	0.001	B	0.06405	0.002	T	0.04440	-1.0951	10	0.21014	T	0.42	-19.5415	19.5735	0.95432	0.0:0.0:1.0:0.0	.	1792	Q9Y2I7	FYV1_HUMAN	N	1792	ENSP00000264380:D1792N	ENSP00000264380:D1792N	D	+	1	0	PIKFYVE	208920992	1.000000	0.71417	1.000000	0.80357	0.924000	0.55760	7.235000	0.78143	2.636000	0.89361	0.655000	0.94253	GAT		0.408	PIKFYVE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256477.2	NM_015040	Missense_Mutation	5	172	0	0	0	1	0	5	172					A	209212747	G	A	209212747	5	1	19	1	0	0	0	0	0	0	1	0	11924	1014	35	3	5519	3	PIKFYVE	2	209212747	Splice_Site	SNP	G	TCGA-CH-5745-01A-11D-1576-08	41106420	209212747	33986626	9	747											
LRIG1	26018	broad.mit.edu	37	chr3	66463350	66463350	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atctgtcagtttgctgatgtTgtttcgctgaagcttcagca	7	16	10	8	1	3	2	2	2	1	0	4	2	3	2	0	0	3	7	0	0	1	4			TCGA-CH-5745-01A-11D-1576-08	TCGA-CH-5745-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51db8439-c35f-472e-baf0-8e6e22833c39	e32b30c3-6ed3-42ce-ad17-69b26146f7e4	g.chr3:66463350T>G	ENST00000273261.3	-	6	1260	c.736A>C	c.(736-738)Aac>Cac	p.N246H	LRIG1_ENST00000383703.3_Missense_Mutation_p.N246H	NM_015541.2	NP_056356.2	Q96JA1	LRIG1_HUMAN	leucine-rich repeats and immunoglobulin-like domains 1	246					innervation (GO:0060384)|otolith morphogenesis (GO:0032474)|sensory perception of sound (GO:0007605)	integral component of membrane (GO:0016021)		p.N246H(2)		NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(4)|stomach(4)|urinary_tract(1)	42		Lung NSC(201;0.0101)		BRCA - Breast invasive adenocarcinoma(55;0.00047)		TTGCTGATGTTGTTTCGCTGA	0.532																																						ENST00000383703.3																			2	Substitution - Missense(2)	p.N246H(2)	prostate(2)	NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(4)|stomach(4)|urinary_tract(1)	42						c.(736-738)Aac>Cac		leucine-rich repeats and immunoglobulin-like domains 1							228	157	181					3																	66463350		2203	4300	6503	SO:0001583	missense	26018					integral to membrane		g.chr3:66463350T>G	AB050468	CCDS33783.1	3p14	2013-01-14			ENSG00000144749	ENSG00000144749		"Immunoglobulin superfamily / I-set domain containing"	17360	protein-coding gene	gene with protein product	"ortholog of mouse integral membrane glycoprotein LIG-1", "leucine-rich repeat protein LRIG1"	608868				11414704, 12234026	Standard	NM_015541		Approved	LIG-1, DKFZP586O1624, LIG1	uc003dmx.3	Q96JA1	OTTHUMG00000158727	ENST00000273261.3:c.736A>C	3.37:g.66463350T>G	ENSP00000273261:p.Asn246His					LRIG1_ENST00000273261.3_Missense_Mutation_p.N246H	p.N246H			Q96JA1	LRIG1_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.00047)	6	1339	-		Lung NSC(201;0.0101)	246					Q6IQ51|Q96CF9|Q9BYB8|Q9UFI4	Missense_Mutation	SNP	ENST00000273261.3	37	c.736A>C	CCDS33783.1	.	.	.	.	.	.	.	.	.	.	T	15.01	2.707218	0.48412	.	.	ENSG00000144749	ENST00000273261;ENST00000383703;ENST00000383702	T;T	0.58358	0.34;0.34	5.69	4.53	0.55603	.	0.186412	0.56097	D	0.000027	T	0.41236	0.1150	N	0.25825	0.765	0.43421	D	0.995577	B;B	0.33000	0.393;0.221	B;B	0.35727	0.142;0.209	T	0.29701	-1.0003	10	0.45353	T	0.12	.	11.366	0.49673	0.0:0.0708:0.0:0.9292	.	246;246	Q96JA1-2;Q96JA1	.;LRIG1_HUMAN	H	246;246;173	ENSP00000273261:N246H;ENSP00000373208:N246H	ENSP00000273261:N246H	N	-	1	0	LRIG1	66546040	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	1.837000	0.39201	0.999000	0.39023	0.402000	0.26972	AAC		0.532	LRIG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351930.1	NM_015541		16	60	0	0	0	1	0	16	60					G	66463350	T	G	66463350	3	3	19	1	0	0	0	0	1	0	0	0	8944	1812	63	5	2601	5	LRIG1	3	66463350	Missense_Mutation	SNP	T	TCGA-CH-5745-01A-11D-1576-08		66463350	131559080	10	748											
CHRD	8646	broad.mit.edu	37	chr3	184104857	184104857	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agagaaacaagatgtcagagActtgccagggctgccaagga	15	5	13	8	0	1	3	1	0	0	3	1	6	1	4	2	2	3	1	2	2	3	1			TCGA-CH-5745-01A-11D-1576-08	TCGA-CH-5745-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51db8439-c35f-472e-baf0-8e6e22833c39	e32b30c3-6ed3-42ce-ad17-69b26146f7e4	g.chr3:184104857A>G	ENST00000204604.1	+	18	2555	c.2309A>G	c.(2308-2310)gAc>gGc	p.D770G	CHRD_ENST00000450923.1_Missense_Mutation_p.D770G|CHRD_ENST00000545352.1_Missense_Mutation_p.D312G|CHRD_ENST00000348986.3_Missense_Mutation_p.D730G|EIF2B5_ENST00000444495.1_Intron	NM_003741.2	NP_003732.2	Q9H2X0	CHRD_HUMAN	chordin	770					BMP signaling pathway involved in spinal cord dorsal/ventral patterning (GO:0021919)|floor plate development (GO:0033504)|forebrain development (GO:0030900)|gastrulation with mouth forming second (GO:0001702)|mesoderm formation (GO:0001707)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of cell migration (GO:0030336)|negative regulation of osteoblast differentiation (GO:0045668)|osteoblast differentiation (GO:0001649)|positive regulation of cell adhesion (GO:0045785)|positive regulation of mesenchymal cell proliferation (GO:0002053)|skeletal system development (GO:0001501)	extracellular space (GO:0005615)	cytokine binding (GO:0019955)|heparin binding (GO:0008201)	p.D770G(1)|p.D483G(1)		NS(1)|biliary_tract(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(23)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48	all_cancers(143;6.33e-11)|Ovarian(172;0.0339)		Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			GATGTCAGAGACTTGCCAGGG	0.592																																						ENST00000204604.1																			2	Substitution - Missense(2)	p.D770G(1)|p.D483G(1)	prostate(2)	NS(1)|biliary_tract(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(23)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						c.(2308-2310)gAc>gGc		chordin							46	56	53					3																	184104857		2203	4300	6503	SO:0001583	missense	8646				BMP signaling pathway involved in spinal cord dorsal/ventral patterning|floor plate development|negative regulation of BMP signaling pathway|negative regulation of cell migration|positive regulation of cell adhesion|skeletal system development	extracellular space	cytokine binding	g.chr3:184104857A>G	AF076612	CCDS3266.1	3q27	2008-07-18			ENSG00000090539	ENSG00000090539			1949	protein-coding gene	gene with protein product		603475				9782094, 11472837	Standard	NM_003741		Approved		uc003fov.3	Q9H2X0	OTTHUMG00000141267	ENST00000204604.1:c.2309A>G	3.37:g.184104857A>G	ENSP00000204604:p.Asp770Gly					CHRD_ENST00000348986.3_Missense_Mutation_p.D730G|CHRD_ENST00000545352.1_Missense_Mutation_p.D312G|CHRD_ENST00000450923.1_Missense_Mutation_p.D770G|EIF2B5_ENST00000444495.1_Intron	p.D770G	NM_003741.2	NP_003732.2	Q9H2X0	CHRD_HUMAN	Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		18	2555	+	all_cancers(143;6.33e-11)|Ovarian(172;0.0339)		770					O95254|Q2M1I8|Q6UW83|Q9H2D3|Q9H2W8|Q9H2W9|Q9P0Z2|Q9P0Z3|Q9P0Z4|Q9P0Z5	Missense_Mutation	SNP	ENST00000204604.1	37	c.2309A>G	CCDS3266.1	.	.	.	.	.	.	.	.	.	.	A	14.26	2.482541	0.44147	.	.	ENSG00000090539	ENST00000204604;ENST00000450923;ENST00000348986;ENST00000545352;ENST00000342610	T;T;T;T	0.46451	2.63;2.41;2.41;0.87	4.87	3.62	0.41486	.	0.166180	0.51477	D	0.000085	T	0.31263	0.0791	L	0.41710	1.295	0.26493	N	0.974909	B;B;B;B	0.33940	0.004;0.433;0.001;0.306	B;B;B;B	0.36845	0.005;0.234;0.011;0.118	T	0.11421	-1.0588	10	0.25106	T	0.35	-15.7703	7.4025	0.26973	0.8064:0.0:0.0:0.1936	.	312;730;770;770	B7Z6F4;Q9H2X0-5;E7ESX1;Q9H2X0	.;.;.;CHRD_HUMAN	G	770;770;730;312;483	ENSP00000204604:D770G;ENSP00000408972:D770G;ENSP00000334036:D730G;ENSP00000442948:D312G	ENSP00000204604:D770G	D	+	2	0	CHRD	185587551	0.988000	0.35896	0.596000	0.28811	0.937000	0.57800	3.176000	0.50863	1.956000	0.56807	0.460000	0.39030	GAC		0.592	CHRD-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000280432.1	NM_003741		20	78	0	0	0	1	0	20	78					G	184104857	A	G	184104857	3	3	19	1	0	0	0	0	1	0	0	0	3372	275	10	4	2379	4	CHRD	3	184104857	Missense_Mutation	SNP	A	TCGA-CH-5745-01A-11D-1576-08	117641507	184104857	13917573	11	749											
FYTTD1	84248	broad.mit.edu	37	chr3	197497068	197497068	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctgagacaaaatgaagggcaGaggaaaccagtagcagttct	16	6	12	7	0	1	3	0	2	1	2	1	5	1	4	1	2	2	4	1	2	5	2			TCGA-CH-5745-01A-11D-1576-08	TCGA-CH-5745-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51db8439-c35f-472e-baf0-8e6e22833c39	e32b30c3-6ed3-42ce-ad17-69b26146f7e4	g.chr3:197497068G>A	ENST00000241502.4	+	4	672	c.450G>A	c.(448-450)caG>caA	p.Q150Q	FYTTD1_ENST00000415708.2_Silent_p.Q124Q|FYTTD1_ENST00000428395.2_Silent_p.Q59Q|FYTTD1_ENST00000424384.2_Silent_p.Q83Q	NM_032288.6	NP_115664.2	Q96QD9	UIF_HUMAN	forty-two-three domain containing 1	150					mRNA export from nucleus (GO:0006406)	nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)	p.Q150Q(1)		kidney(1)|large_intestine(3)|lung(7)|prostate(1)|skin(1)	13	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)	Lung NSC(153;0.132)	Epithelial(36;2.19e-23)|all cancers(36;1.39e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.21e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(93;0.175)		ATGAAGGGCAGAGGAAACCAG	0.348																																						ENST00000428395.2																			1	Substitution - coding silent(1)	p.Q150Q(1)	prostate(1)	kidney(1)|large_intestine(3)|lung(7)|prostate(1)|skin(1)	13						c.(175-177)caG>caA		forty-two-three domain containing 1							70	67	68					3																	197497068		2203	4300	6503	SO:0001819	synonymous_variant	84248				mRNA export from nucleus	nuclear speck	mRNA binding|protein binding	g.chr3:197497068G>A	AJ344094	CCDS3329.1, CCDS43196.1, CCDS43196.2	3q29	2011-03-03			ENSG00000122068	ENSG00000122068			25407	protein-coding gene	gene with protein product	"UAP56-interacting factor"					19836239	Standard	NM_001011537		Approved	DKFZp761B1514, UIF	uc003fyi.2	Q96QD9	OTTHUMG00000155453	ENST00000241502.4:c.450G>A	3.37:g.197497068G>A						FYTTD1_ENST00000241502.3_Silent_p.Q150Q|FYTTD1_ENST00000424384.2_Silent_p.Q83Q|FYTTD1_ENST00000415708.2_Silent_p.Q124Q	p.Q59Q	NM_001011537.2	NP_001011537.2	Q96QD9	UIF_HUMAN	Epithelial(36;2.19e-23)|all cancers(36;1.39e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.21e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(93;0.175)	5	610	+	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)	Lung NSC(153;0.132)	150					A8MY74|B2RCB2|B7Z3R4|B7Z7V1|B7Z8I0|B7ZAJ3|C9J7P6|C9JNG6|C9JTH3|C9JY50|Q96SL9|Q9BQI8	Silent	SNP	ENST00000241502.4	37	c.177G>A	CCDS3329.1																																																																																				0.348	FYTTD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340185.3	NM_032288		4	21	0	0	0	1	0	4	21					A	197497068	G	A	197497068	2	1	19	1	0	0	0	0	0	0	0	1	6127	933	33	3		3	FYTTD1	3	197497068	Silent	SNP	G	TCGA-CH-5745-01A-11D-1576-08	13392211	197497068	525362	12	750											
USP46	64854	broad.mit.edu	37	chr4	53468062	53468062	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccgcaaccaagtcatacatgCggtccaggttcactgcatca	11	8	8	14	2	3	0	3	0	0	0	4	0	4	0	3	2	4	3	3	2	3	2			TCGA-CH-5745-01A-11D-1576-08	TCGA-CH-5745-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51db8439-c35f-472e-baf0-8e6e22833c39	e32b30c3-6ed3-42ce-ad17-69b26146f7e4	g.chr4:53468062C>A	ENST00000441222.3	-	7	1065	c.881G>T	c.(880-882)cGc>cTc	p.R294L	USP46_ENST00000451218.2_Missense_Mutation_p.R267L|USP46_ENST00000508499.1_Missense_Mutation_p.R287L	NM_022832.3	NP_073743.2	P62068	UBP46_HUMAN	ubiquitin specific peptidase 46	294	USP.				adult feeding behavior (GO:0008343)|behavioral fear response (GO:0001662)|behavioral response to ethanol (GO:0048149)|protein deubiquitination (GO:0016579)|regulation of synaptic transmission, GABAergic (GO:0032228)|righting reflex (GO:0060013)|ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			breast(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(2)	12			LUSC - Lung squamous cell carcinoma(32;0.0295)			GTCATACATGCGGTCCAGGTT	0.537																																						ENST00000441222.2																			0				breast(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(2)	12						c.(880-882)cGc>cTc		ubiquitin specific peptidase 46							107	104	105					4																	53468062		2082	4216	6298	SO:0001583	missense	64854				behavior|protein deubiquitination|regulation of synaptic transmission, GABAergic|ubiquitin-dependent protein catabolic process		protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr4:53468062C>A	AK022614	CCDS47053.1, CCDS47054.1	4q12	2008-02-05	2005-08-08		ENSG00000109189	ENSG00000109189		"Ubiquitin-specific peptidases"	20075	protein-coding gene	gene with protein product		612849	"ubiquitin specific protease 46"			12838346	Standard	NM_022832		Approved	FLJ12552	uc003gzn.3	P62068	OTTHUMG00000160640	ENST00000441222.3:c.881G>T	4.37:g.53468062C>A	ENSP00000407818:p.Arg294Leu					USP46_ENST00000508499.1_Missense_Mutation_p.R287L|USP46_ENST00000451218.2_Missense_Mutation_p.R267L	p.R294L	NM_022832.3	NP_073743.2	P62068	UBP46_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.0295)		7	1065	-			294					B7Z3Y7|B7Z675|B7Z7S3|G8ACC7|Q80V95|Q9H7U4|Q9H9T8	Missense_Mutation	SNP	ENST00000441222.3	37	c.881G>T	CCDS47053.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.407845	0.83340	.	.	ENSG00000109189	ENST00000441222;ENST00000451218;ENST00000508499	T;T;T	0.28666	1.6;1.6;1.6	5.32	4.48	0.54585	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.000000	0.50627	U	0.000118	T	0.34221	0.0890	L	0.31420	0.93	0.80722	D	1	B;B;P;P	0.47604	0.011;0.011;0.898;0.798	B;B;P;P	0.54664	0.024;0.024;0.737;0.758	T	0.03335	-1.1047	10	0.20519	T	0.43	-14.7655	13.5402	0.61671	0.0:0.9246:0.0:0.0754	.	178;282;294;287	P62068-2;P62068-4;P62068;P62068-3	.;.;UBP46_HUMAN;.	L	294;267;287	ENSP00000407818:R294L;ENSP00000390102:R267L;ENSP00000423244:R287L	ENSP00000407818:R294L	R	-	2	0	USP46	53162819	1.000000	0.71417	1.000000	0.80357	0.764000	0.43329	7.776000	0.85560	1.371000	0.46172	-0.157000	0.13467	CGC		0.537	USP46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361516.2	NM_022832		3	105	1	0	0.004672	1	0.0052383	3	105					A	53468062	C	A	53468062	3	1	19	1	0	0	0	0	1	0	0	0	17074	768	27	5	231	5	USP46	4	53468062	Missense_Mutation	SNP	C	TCGA-CH-5745-01A-11D-1576-08		53468062	137686214	13	751											
TDO2	6999	broad.mit.edu	37	chr4	156835562	156835562	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgtccttatttgatgagaaaCgtcatgaacatctccttagt	11	15	7	8	1	2	3	1	3	1	1	4	4	3	3	2	0	2	0	2	0	4	3			TCGA-CH-5745-01A-11D-1576-08	TCGA-CH-5745-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51db8439-c35f-472e-baf0-8e6e22833c39	e32b30c3-6ed3-42ce-ad17-69b26146f7e4	g.chr4:156835562C>T	ENST00000536354.2	+	8	878	c.814C>T	c.(814-816)Cgt>Tgt	p.R272C		NM_005651.3	NP_005642.1			tryptophan 2,3-dioxygenase									p.R272C(1)		breast(3)|endometrium(1)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	18	all_hematologic(180;0.24)	Renal(120;0.0854)		KIRC - Kidney renal clear cell carcinoma(143;0.0455)|Kidney(143;0.0568)|COAD - Colon adenocarcinoma(41;0.141)		TGATGAGAAACGTCATGAACA	0.348																																					Colon(57;928 1036 2595 6946 26094)	ENST00000536354.2																			1	Substitution - Missense(1)	p.R272C(1)	prostate(1)	breast(3)|endometrium(1)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	18						c.(814-816)Cgt>Tgt		tryptophan 2,3-dioxygenase	L-Tryptophan(DB00150)						110	112	111					4																	156835562		2202	4300	6502	SO:0001583	missense	6999				tryptophan catabolic process to kynurenine	cytosol	tryptophan 2,3-dioxygenase activity	g.chr4:156835562C>T		CCDS34086.1	4q31-q32	2008-02-05				ENSG00000151790	1.13.11.11		11708	protein-coding gene	gene with protein product		191070					Standard	NM_005651		Approved	TDO, TPH2	uc003ipf.2	P48775		ENST00000536354.2:c.814C>T	4.37:g.156835562C>T	ENSP00000444788:p.Arg272Cys						p.R272C	NM_005651.3	NP_005642.1	P48775	T23O_HUMAN		KIRC - Kidney renal clear cell carcinoma(143;0.0455)|Kidney(143;0.0568)|COAD - Colon adenocarcinoma(41;0.141)	8	878	+	all_hematologic(180;0.24)	Renal(120;0.0854)	272						Missense_Mutation	SNP	ENST00000536354.2	37	c.814C>T	CCDS34086.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.024566	0.75390	.	.	ENSG00000151790	ENST00000536354	.	.	.	5.66	5.66	0.87406	.	0.046263	0.85682	D	0.000000	T	0.78660	0.4318	M	0.75447	2.3	0.80722	D	1	D	0.71674	0.998	P	0.62740	0.906	T	0.77907	-0.2412	9	0.49607	T	0.09	-17.9098	20.1041	0.97884	0.0:1.0:0.0:0.0	.	272	P48775	T23O_HUMAN	C	272	.	ENSP00000281525:R272C	R	+	1	0	TDO2	157055012	1.000000	0.71417	1.000000	0.80357	0.912000	0.54170	4.262000	0.58847	2.826000	0.97356	0.655000	0.94253	CGT		0.348	TDO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366209.3	NM_005651		17	46	0	0	0	1	0	17	46					T	156835562	C	T	156835562	3	4	19	1	0	0	0	0	1	0	0	0	15724	536	19	1	844	1	TDO2	4	156835562	Missense_Mutation	SNP	C	TCGA-CH-5745-01A-11D-1576-08	103367500	156835562	34318714	14	752											
GABRP	2568	broad.mit.edu	37	chr5	170216165	170216165	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggggagtcagttcaacgtcgAggtcggcagaagtgacaagc	11	6	16	8	3	2	2	2	1	0	1	4	4	2	3	0	4	2	2	0	4	3	1			TCGA-CH-5745-01A-11D-1576-08	TCGA-CH-5745-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51db8439-c35f-472e-baf0-8e6e22833c39	e32b30c3-6ed3-42ce-ad17-69b26146f7e4	g.chr5:170216165A>G	ENST00000518525.1	+	4	550	c.86A>G	c.(85-87)gAg>gGg	p.E29G	GABRP_ENST00000519598.1_Missense_Mutation_p.E29G|GABRP_ENST00000265294.4_Missense_Mutation_p.E29G|MIR4454_ENST00000518172.1_RNA|GABRP_ENST00000519385.1_Missense_Mutation_p.E29G			O00591	GBRP_HUMAN	gamma-aminobutyric acid (GABA) A receptor, pi	29					signal transduction (GO:0007165)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			NS(1)|breast(1)|cervix(1)|endometrium(5)|large_intestine(4)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	29	Renal(175;0.000159)|Lung NSC(126;0.0122)|all_lung(126;0.0193)	Medulloblastoma(196;0.0109)|all_neural(177;0.0298)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)		Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	TTCAACGTCGAGGTCGGCAGA	0.473																																						ENST00000518525.1																			0				NS(1)|breast(1)|cervix(1)|endometrium(5)|large_intestine(4)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	29						c.(85-87)gAg>gGg		gamma-aminobutyric acid (GABA) A receptor, pi							142	132	136					5																	170216165		2203	4300	6503	SO:0001583	missense	2568					cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chr5:170216165A>G	U95367	CCDS4375.1, CCDS75368.1	5q35.1	2012-06-22			ENSG00000094755	ENSG00000094755		"GABA receptors", "Ligand-gated ion channels / GABA(A) receptors"	4089	protein-coding gene	gene with protein product	"GABA(A) receptor, pi"	602729				9182563	Standard	NM_014211		Approved		uc003mau.3	O00591	OTTHUMG00000130443	ENST00000518525.1:c.86A>G	5.37:g.170216165A>G	ENSP00000430100:p.Glu29Gly					GABRP_ENST00000519598.1_Missense_Mutation_p.E29G|GABRP_ENST00000519385.1_Missense_Mutation_p.E29G|GABRP_ENST00000265294.4_Missense_Mutation_p.E29G	p.E29G			O00591	GBRP_HUMAN	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)		4	550	+	Renal(175;0.000159)|Lung NSC(126;0.0122)|all_lung(126;0.0193)	Medulloblastoma(196;0.0109)|all_neural(177;0.0298)	29					A8KA36|D3DQL2|Q32MJ1	Missense_Mutation	SNP	ENST00000518525.1	37	c.86A>G	CCDS4375.1	.	.	.	.	.	.	.	.	.	.	A	14.00	2.404381	0.42613	.	.	ENSG00000094755	ENST00000521481;ENST00000521009;ENST00000519196;ENST00000522868;ENST00000518525;ENST00000518122;ENST00000265294;ENST00000519385;ENST00000519598	T;D;T;T;T;T;T	0.87179	0.52;-2.22;0.09;-1.31;-1.31;-0.85;-1.47	5.1	3.91	0.45181	.	0.458825	0.24303	N	0.039701	T	0.70859	0.3272	N	0.08118	0	0.20489	N	0.999895	B;B	0.19817	0.039;0.016	B;B	0.19391	0.025;0.011	T	0.57619	-0.7780	10	0.30078	T	0.28	.	5.6283	0.17495	0.5534:0.1525:0.0:0.294	.	29;29	E7EWG0;O00591	.;GBRP_HUMAN	G	29	ENSP00000428804:E29G;ENSP00000428103:E29G;ENSP00000430188:E29G;ENSP00000430100:E29G;ENSP00000265294:E29G;ENSP00000430727:E29G;ENSP00000430772:E29G	ENSP00000265294:E29G	E	+	2	0	GABRP	170148743	1.000000	0.71417	0.283000	0.24790	0.357000	0.29423	2.648000	0.46647	0.859000	0.35456	0.459000	0.35465	GAG		0.473	GABRP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252834.3	NM_014211		3	165	0	0	0	1	0	3	165					G	170216165	A	G	170216165	3	3	19	1	0	0	0	0	1	0	0	0	6174	304	11	4	92	4	GABRP	5	170216165	Missense_Mutation	SNP	A	TCGA-CH-5745-01A-11D-1576-08		170216165	10699095	15	753											
FAM50B	26240	broad.mit.edu	37	chr6	3850735	3850735	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcctggagctgcgctccgcCggcgtggagcagctcatgtt	4	10	14	13	4	1	0	1	0	0	0	3	2	3	2	3	3	4	5	3	3	0	2			TCGA-CH-5745-01A-11D-1576-08	TCGA-CH-5745-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51db8439-c35f-472e-baf0-8e6e22833c39	e32b30c3-6ed3-42ce-ad17-69b26146f7e4	g.chr6:3850735C>T	ENST00000380274.1	+	1	1116	c.690C>T	c.(688-690)gcC>gcT	p.A230A	FAM50B_ENST00000380272.3_Silent_p.A230A			Q9Y247	FA50B_HUMAN	family with sequence similarity 50, member B	230						nucleus (GO:0005634)		p.A230A(1)		cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|pancreas(1)|prostate(3)|urinary_tract(3)	17	Ovarian(93;0.0925)	all_hematologic(90;0.108)				TGCGCTCCGCCGGCGTGGAGC	0.652																																						ENST00000380274.1																			1	Substitution - coding silent(1)	p.A230A(1)	prostate(1)	cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|pancreas(1)|prostate(3)|urinary_tract(3)	17						c.(688-690)gcC>gcT		family with sequence similarity 50, member B							53	50	51					6																	3850735		2203	4300	6503	SO:0001819	synonymous_variant	26240					nucleus		g.chr6:3850735C>T	Y18504	CCDS4487.1	6p25.2	2008-05-15			ENSG00000145945	ENSG00000145945			18789	protein-coding gene	gene with protein product		614686				10534398	Standard	NM_012135		Approved	D6S2654E, X5L	uc003mvu.3	Q9Y247	OTTHUMG00000014147	ENST00000380274.1:c.690C>T	6.37:g.3850735C>T						FAM50B_ENST00000380272.3_Silent_p.A230A	p.A230A			Q9Y247	FA50B_HUMAN			1	1116	+	Ovarian(93;0.0925)	all_hematologic(90;0.108)	230					Q5T2L6	Silent	SNP	ENST00000380274.1	37	c.690C>T	CCDS4487.1																																																																																				0.652	FAM50B-002	NOVEL	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039693.1	NM_012135		3	66	0	0	0	1	0	3	66					T	3850735	C	T	3850735	2	4	19	1	0	0	0	0	0	0	0	1	5578	639	23	2		2	FAM50B	6	3850735	Silent	SNP	C	TCGA-CH-5745-01A-11D-1576-08		3850735	167264332	16	754											
CYP21A2	1590	broad.mit.edu	37	chr6	31975463	31975463	+	5'Flank	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cccagattcagcagcgactgTaggaggagctagaccacgaa	13	5	12	11	2	1	2	1	0	0	2	1	6	1	4	2	2	3	3	2	2	3	3	rs370433041	byFrequency	TCGA-CH-5745-01A-11D-1576-08	TCGA-CH-5745-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51db8439-c35f-472e-baf0-8e6e22833c39	e32b30c3-6ed3-42ce-ad17-69b26146f7e4	g.chr6:31975463T>C	ENST00000594256.1	-	0	0				CYP21A1P_ENST00000342991.6_RNA																							GCAGCGACTGTAGGAGGAGCT	0.657													C|||	271	0.0541134	0.1324	0.0303	5008	,	,		12708	0.0288		0.0268	False		,,,				2504	0.0194					ENST00000342991.6																			0																																																	SO:0001631	upstream_gene_variant	0						electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen	g.chr6:31975463T>C																													6.37:g.31975463T>C	Exception_encountered							NR_040090.1		Q5ST44	Q5ST44_HUMAN			0	1386	+									RNA	SNP	ENST00000594256.1	37																																																																																						0.657	AL645922.1-201	NOVEL	basic|appris_principal	protein_coding	protein_coding				3	25	0	0	0	1	0	3	25					C	31975463	T	C	31975463	1	2	19	0	1	0	0	0	0	0	0	0	4153	1651	57	4		4	CYP21A2	6	31975463	5'Flank	SNP	T	TCGA-CH-5745-01A-11D-1576-08	28124728	31975463	139139604	17	755											
KIAA0240	23506	broad.mit.edu	37	chr6	42832484	42832484	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccggagtgaccagcatggcaGtaaagcaagcagctctctgc	11	6	12	12	1	1	1	0	1	1	0	2	2	1	2	2	2	5	6	2	2	3	1			TCGA-CH-5745-01A-11D-1576-08	TCGA-CH-5745-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51db8439-c35f-472e-baf0-8e6e22833c39	e32b30c3-6ed3-42ce-ad17-69b26146f7e4	g.chr6:42832484G>A	ENST00000314073.5	+	13	2716	c.2540G>A	c.(2539-2541)aGt>aAt	p.S847N	GLTSCR1L_ENST00000394168.1_Missense_Mutation_p.S847N			Q6AI39	GSC1L_HUMAN	GLTSCR1-like	847																	CAGCATGGCAGTAAAGCAAGC	0.507																																						ENST00000314073.5																			0											c.(2539-2541)aGt>aAt		GLTSCR1-like							123	104	110					6																	42832484		2203	4300	6503	SO:0001583	missense	23506							g.chr6:42832484G>A	AL833540	CCDS34451.1	6p21.1	2012-11-29	2012-11-29	2012-11-29	ENSG00000112624	ENSG00000112624			21111	protein-coding gene	gene with protein product			"KIAA0240"	KIAA0240			Standard	XM_005248972		Approved		uc003osp.1	Q6AI39	OTTHUMG00000014706	ENST00000314073.5:c.2540G>A	6.37:g.42832484G>A	ENSP00000313933:p.Ser847Asn					GLTSCR1L_ENST00000394168.1_Missense_Mutation_p.S847N	p.S847N							13	2716	+								A1L3W2|Q5TFZ3|Q92514	Missense_Mutation	SNP	ENST00000314073.5	37	c.2540G>A	CCDS34451.1	.	.	.	.	.	.	.	.	.	.	G	14.70	2.615088	0.46631	.	.	ENSG00000112624	ENST00000394167;ENST00000314073;ENST00000394168	T;T	0.52526	0.66;0.66	5.07	5.07	0.68467	.	0.301561	0.33553	N	0.004781	T	0.27489	0.0675	L	0.29908	0.895	0.43103	D	0.994791	B	0.06786	0.001	B	0.09377	0.004	T	0.10132	-1.0643	10	0.62326	D	0.03	-0.2986	18.8118	0.92061	0.0:0.0:1.0:0.0	.	847	Q6AI39	K0240_HUMAN	N	847	ENSP00000313933:S847N;ENSP00000377723:S847N	ENSP00000313933:S847N	S	+	2	0	KIAA0240	42940462	1.000000	0.71417	0.830000	0.32933	0.917000	0.54804	3.912000	0.56386	2.476000	0.83614	0.655000	0.94253	AGT		0.507	GLTSCR1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040562.3	NM_015349		3	149	0	0	0	1	0	3	149					A	42832484	G	A	42832484	3	1	19	1	0	0	0	0	1	0	0	0	8164	1029	36	3	2582	3	KIAA0240	6	42832484	Missense_Mutation	SNP	G	TCGA-CH-5745-01A-11D-1576-08	10857021	42832484	128282583	18	756											
TAAR8	83551	broad.mit.edu	37	chr6	132873901	132873901	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgaatggatcttgtattgaaActccctattctcctgggtcc	8	15	8	10	0	2	2	0	2	2	0	5	3	4	3	3	2	1	1	3	2	4	5			TCGA-CH-5745-01A-11D-1576-08	TCGA-CH-5745-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51db8439-c35f-472e-baf0-8e6e22833c39	e32b30c3-6ed3-42ce-ad17-69b26146f7e4	g.chr6:132873901A>G	ENST00000275200.1	+	1	70	c.70A>G	c.(70-72)Act>Gct	p.T24A		NM_053278.1	NP_444508.1	Q969N4	TAAR8_HUMAN	trace amine associated receptor 8	24					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|trace-amine receptor activity (GO:0001594)			endometrium(3)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22	Breast(56;0.112)			OV - Ovarian serous cystadenocarcinoma(155;0.00412)|GBM - Glioblastoma multiforme(226;0.00792)		TTGTATTGAAACTCCCTATTC	0.428																																						ENST00000275200.1																			0				endometrium(3)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22						c.(70-72)Act>Gct		trace amine associated receptor 8							170	153	158					6																	132873901		2203	4300	6503	SO:0001583	missense	83551					plasma membrane	G-protein coupled receptor activity	g.chr6:132873901A>G	AF380193	CCDS5154.1	6q23.2	2014-05-14	2005-02-23	2005-02-24	ENSG00000146385	ENSG00000146385		"GPCR / Class A : Trace amine associated receptors"	14964	protein-coding gene	gene with protein product		606927	"trace amine receptor 5"	GPR102, TRAR5		11574155, 15718104	Standard	NM_053278		Approved	TA5, TAR5	uc011ecj.2	Q969N4	OTTHUMG00000015586	ENST00000275200.1:c.70A>G	6.37:g.132873901A>G	ENSP00000275200:p.Thr24Ala						p.T24A	NM_053278.1	NP_444508.1	Q969N4	TAAR8_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.00412)|GBM - Glioblastoma multiforme(226;0.00792)	1	70	+	Breast(56;0.112)		24					Q5VUQ0	Missense_Mutation	SNP	ENST00000275200.1	37	c.70A>G	CCDS5154.1	.	.	.	.	.	.	.	.	.	.	A	11.21	1.572699	0.28092	.	.	ENSG00000146385	ENST00000275200	T	0.36520	1.25	4.61	-1.55	0.08558	.	0.734179	0.11262	N	0.582452	T	0.15046	0.0363	M	0.83384	2.64	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.30416	-0.9979	10	0.41790	T	0.15	-3.7586	1.0174	0.01510	0.462:0.11:0.152:0.276	.	24	Q969N4	TAAR8_HUMAN	A	24	ENSP00000275200:T24A	ENSP00000275200:T24A	T	+	1	0	TAAR8	132915594	0.000000	0.05858	0.003000	0.11579	0.029000	0.11900	-0.028000	0.12350	-0.191000	0.10448	0.533000	0.62120	ACT		0.428	TAAR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042262.1	NM_053278		4	309	0	0	0	1	0	4	309					G	132873901	A	G	132873901	3	3	19	1	0	0	0	0	1	0	0	0	15490	43	2	4	72	4	TAAR8	6	132873901	Missense_Mutation	SNP	A	TCGA-CH-5745-01A-11D-1576-08	90041417	132873901	38241166	19	757											
BAZ1B	9031	broad.mit.edu	37	chr7	72858424	72858424	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttgctgcaggggggatgaCgctgtgcttgccccggatgg	4	9	17	11	2	0	1	0	1	0	0	0	3	0	3	3	5	4	4	3	5	0	2			TCGA-CH-5745-01A-11D-1576-08	TCGA-CH-5745-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51db8439-c35f-472e-baf0-8e6e22833c39	e32b30c3-6ed3-42ce-ad17-69b26146f7e4	g.chr7:72858424C>A	ENST00000339594.4	-	17	4218	c.3880G>T	c.(3880-3882)Gtc>Ttc	p.V1294F	BAZ1B_ENST00000404251.1_Missense_Mutation_p.V1294F	NM_032408.3	NP_115784.1	Q9UIG0	BAZ1B_HUMAN	bromodomain adjacent to zinc finger domain, 1B	1294					cellular response to DNA damage stimulus (GO:0006974)|chromatin assembly or disassembly (GO:0006333)|chromatin-mediated maintenance of transcription (GO:0048096)|double-strand break repair (GO:0006302)|heart morphogenesis (GO:0003007)|histone phosphorylation (GO:0016572)|peptidyl-tyrosine phosphorylation (GO:0018108)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	condensed chromosome (GO:0000793)|nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|histone kinase activity (GO:0035173)|lysine-acetylated histone binding (GO:0070577)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)|vitamin D receptor activator activity (GO:0071884)|zinc ion binding (GO:0008270)	p.V1294I(1)		NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(5)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Lung NSC(55;0.0659)|all_lung(88;0.152)				GGGGGGATGACGCTGTGCTTG	0.562																																					Esophageal Squamous(112;1167 1561 21085 43672 48228)	ENST00000339594.4																			1	Substitution - Missense(1)	p.V1294I(1)	prostate(1)	NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(5)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						c.(3880-3882)Gtc>Ttc		bromodomain adjacent to zinc finger domain, 1B							99	94	95					7																	72858424		2203	4300	6503	SO:0001583	missense	9031				ATP-dependent chromatin remodeling|chromatin-mediated maintenance of transcription|DNA replication-dependent nucleosome disassembly|double-strand break repair|heart morphogenesis|transcription, DNA-dependent	WINAC complex	ATP binding|chromatin binding|histone acetyl-lysine binding|histone kinase activity|non-membrane spanning protein tyrosine kinase activity|protein complex scaffold|vitamin D receptor activator activity|vitamin D receptor binding|zinc ion binding	g.chr7:72858424C>A	AF084479	CCDS5549.1	7q11.23	2013-01-28			ENSG00000009954	ENSG00000009954		"Zinc fingers, PHD-type"	961	protein-coding gene	gene with protein product	"Williams-Beuren syndrome chromosome region 9", "Williams-Beuren syndrome chromosome region 10", "transcription factor WSTF"	605681		WBSCR9, WBSCR10		9858827, 9828126	Standard	NM_032408		Approved	WSTF	uc003tyc.3	Q9UIG0	OTTHUMG00000023847	ENST00000339594.4:c.3880G>T	7.37:g.72858424C>A	ENSP00000342434:p.Val1294Phe					BAZ1B_ENST00000404251.1_Missense_Mutation_p.V1294F	p.V1294F	NM_032408.3	NP_115784.1	Q9UIG0	BAZ1B_HUMAN			17	4218	-		Lung NSC(55;0.0659)|all_lung(88;0.152)	1294					B9EGK3|D3DXE9|O95039|O95247|O95277|Q6P1K4|Q86UJ6	Missense_Mutation	SNP	ENST00000339594.4	37	c.3880G>T	CCDS5549.1	.	.	.	.	.	.	.	.	.	.	C	10.07	1.248718	0.22880	.	.	ENSG00000009954	ENST00000339594;ENST00000404251	T;T	0.59502	0.26;0.26	5.74	2.9	0.33743	.	0.704169	0.13234	N	0.403361	T	0.33702	0.0872	N	0.14661	0.345	0.09310	N	1	P	0.34724	0.465	B	0.29077	0.098	T	0.10314	-1.0635	10	0.18710	T	0.47	-4.1079	8.4813	0.33045	0.0:0.7477:0.0:0.2523	.	1294	Q9UIG0	BAZ1B_HUMAN	F	1294	ENSP00000342434:V1294F;ENSP00000385442:V1294F	ENSP00000342434:V1294F	V	-	1	0	BAZ1B	72496360	0.000000	0.05858	0.410000	0.26471	0.409000	0.31022	0.009000	0.13219	0.412000	0.25729	0.563000	0.77884	GTC		0.562	BAZ1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252123.4	NM_032408		5	219	1	0	0.000602214	1	0.00069631	5	219					A	72858424	C	A	72858424	3	1	19	1	0	0	0	0	1	0	0	0	1330	536	19	5	583	5	BAZ1B	7	72858424	Missense_Mutation	SNP	C	TCGA-CH-5745-01A-11D-1576-08		72858424	86280239	20	758											
ZC3HAV1	56829	broad.mit.edu	37	chr7	138764546	138764546	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaagagcgggcggcaggtaGcgtgggagaaaacacagtct	13	4	17	7	3	1	3	0	0	1	3	1	4	1	3	0	4	3	2	0	4	4	1			TCGA-CH-5745-01A-11D-1576-08	TCGA-CH-5745-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51db8439-c35f-472e-baf0-8e6e22833c39	e32b30c3-6ed3-42ce-ad17-69b26146f7e4	g.chr7:138764546G>C	ENST00000242351.5	-	4	1457	c.1141C>G	c.(1141-1143)Cta>Gta	p.L381V	ZC3HAV1_ENST00000471652.1_Missense_Mutation_p.L381V|ZC3HAV1_ENST00000464606.1_Missense_Mutation_p.L381V	NM_020119.3	NP_064504.2	Q7Z2W4	ZCCHV_HUMAN	zinc finger CCCH-type, antiviral 1	381					defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of viral genome replication (GO:0045071)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of mRNA catabolic process (GO:0061014)|positive regulation of RIG-I signaling pathway (GO:1900246)|response to virus (GO:0009615)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|NAD+ ADP-ribosyltransferase activity (GO:0003950)|poly(A) RNA binding (GO:0044822)	p.L381V(1)		cervix(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|prostate(4)|skin(1)	37						GCGGCAGGTAGCGTGGGAGAA	0.532																																						ENST00000242351.5																			1	Substitution - Missense(1)	p.L381V(1)	prostate(1)	cervix(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|prostate(4)|skin(1)	37						c.(1141-1143)Cta>Gta		zinc finger CCCH-type, antiviral 1							116	117	116					7																	138764546		2203	4300	6503	SO:0001583	missense	56829				response to virus	cytoplasm|nucleus	NAD+ ADP-ribosyltransferase activity|RNA binding|zinc ion binding	g.chr7:138764546G>C	BX571742	CCDS5851.1, CCDS55171.1	7q34	2012-07-05			ENSG00000105939	ENSG00000105939		"Zinc fingers, CCCH-type domain containing", "Poly (ADP-ribose) polymerases"	23721	protein-coding gene	gene with protein product	"zinc finger antiviral protein", " CCCH-type zinc finger antiviral protein"	607312				12215647, 12851707	Standard	NM_024625		Approved	ZAP, FLB6421, FLJ13288, MGC48898, ZC3HDC2, ZC3H2, PARP13	uc003vun.3	Q7Z2W4	OTTHUMG00000157471	ENST00000242351.5:c.1141C>G	7.37:g.138764546G>C	ENSP00000242351:p.Leu381Val					ZC3HAV1_ENST00000471652.1_Missense_Mutation_p.L381V|ZC3HAV1_ENST00000464606.1_Missense_Mutation_p.L381V	p.L381V	NM_020119.3	NP_064504.2	Q7Z2W4	ZCCHV_HUMAN			4	1457	-			381					A4D1R2|A4D1S4|Q8IW57|Q8TAJ3|Q96N79|Q9H8R9|Q9P0Y7	Missense_Mutation	SNP	ENST00000242351.5	37	c.1141C>G	CCDS5851.1	.	.	.	.	.	.	.	.	.	.	G	5.579	0.291698	0.10567	.	.	ENSG00000105939	ENST00000242351;ENST00000464606;ENST00000471652;ENST00000540247	T;T;T	0.17691	3.3;3.25;2.26	4.65	0.272	0.15645	.	2.458410	0.01766	N	0.030858	T	0.11196	0.0273	N	0.14661	0.345	0.09310	N	1	B;B	0.29805	0.257;0.137	B;B	0.29077	0.098;0.043	T	0.25502	-1.0130	10	0.29301	T	0.29	.	7.0117	0.24865	0.0:0.3186:0.3548:0.3266	.	381;381	Q7Z2W4-2;Q7Z2W4	.;ZCCHV_HUMAN	V	381;381;381;141	ENSP00000242351:L381V;ENSP00000418385:L381V;ENSP00000419855:L381V	ENSP00000242351:L381V	L	-	1	2	ZC3HAV1	138415086	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.125000	0.15749	0.224000	0.20940	0.655000	0.94253	CTA		0.532	ZC3HAV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348915.1	NM_020119		68	201	0	0	0	1	0	68	201					C	138764546	G	C	138764546	3	2	19	1	0	0	0	0	1	0	0	0	17572	962	34	5	1611	5	ZC3HAV1	7	138764546	Missense_Mutation	SNP	G	TCGA-CH-5745-01A-11D-1576-08	65906122	138764546	20374117	21	759											
GIMAP1	170575	broad.mit.edu	37	chr7	150417468	150417468	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccagttgggtcggttcaccGcccaggaccagcaggcggtg	6	6	15	14	3	1	0	1	0	0	0	2	1	1	1	4	5	1	3	4	5	0	2	rs374968861		TCGA-CH-5745-01A-11D-1576-08	TCGA-CH-5745-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51db8439-c35f-472e-baf0-8e6e22833c39	e32b30c3-6ed3-42ce-ad17-69b26146f7e4	g.chr7:150417468G>T	ENST00000307194.5	+	3	516	c.376G>T	c.(376-378)Gcc>Tcc	p.A126S		NM_130759.3	NP_570115.1	Q8WWP7	GIMA1_HUMAN	GTPase, IMAP family member 1	126	AIG1-type G.				B cell differentiation (GO:0030183)|T cell differentiation (GO:0030217)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	GTP binding (GO:0005525)	p.A126T(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	28			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TCGGTTCACCGCCCAGGACCA	0.637																																						ENST00000307194.5																			1	Substitution - Missense(1)	p.A126T(1)	large_intestine(1)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	28						c.(376-378)Gcc>Tcc		GTPase, IMAP family member 1							46	45	45					7																	150417468		2203	4300	6503	SO:0001583	missense	170575							g.chr7:150417468G>T	AJ306287	CCDS5906.1	7q36.1	2014-04-04			ENSG00000213203	ENSG00000213203		"GTPases, IMAP"	23237	protein-coding gene	gene with protein product	"immune-associated nucleotide-binding protein 2"	608084				15474311, 18701445	Standard	NM_130759		Approved	HIMAP1, IMAP38, IMAP1, IAN2		Q8WWP7	OTTHUMG00000157489	ENST00000307194.5:c.376G>T	7.37:g.150417468G>T	ENSP00000302833:p.Ala126Ser						p.A126S	NM_130759.3	NP_570115.1			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	3	516	+								B2RCI3|Q8NAZ0	Missense_Mutation	SNP	ENST00000307194.5	37	c.376G>T	CCDS5906.1	.	.	.	.	.	.	.	.	.	.	G	11.44	1.640287	0.29157	.	.	ENSG00000213203	ENST00000307194	T	0.61274	0.12	4.72	-4.65	0.03339	AIG1 (1);	3.346840	0.01980	U	0.044724	T	0.47637	0.1456	L	0.41961	1.31	0.09310	N	1	B	0.12013	0.005	B	0.27500	0.08	T	0.24799	-1.0150	10	0.25751	T	0.34	.	6.2026	0.20585	0.5487:0.2703:0.1809:0.0	.	126	Q8WWP7	GIMA1_HUMAN	S	126	ENSP00000302833:A126S	ENSP00000302833:A126S	A	+	1	0	GIMAP1	150048401	0.000000	0.05858	0.001000	0.08648	0.627000	0.37826	-0.026000	0.12392	-0.826000	0.04284	-0.751000	0.03497	GCC		0.637	GIMAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348951.2	NM_130759		3	81	1	0	0.115264	1	0.123616	3	81					T	150417468	G	T	150417468	3	4	19	1	0	0	0	0	1	0	0	0	6379	1087	38	5	382	5	GIMAP1	7	150417468	Missense_Mutation	SNP	G	TCGA-CH-5745-01A-11D-1576-08	11652922	150417468	8721195	22	760											
NKX3-1	4824	broad.mit.edu	37	chr8	23539135	23539135	+	Frame_Shift_Del	DEL	A	A	-																															gttttcagagtccaacagatAagaccccaagtgcctttctg																										TCGA-CH-5745-01A-11D-1576-08	TCGA-CH-5745-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51db8439-c35f-472e-baf0-8e6e22833c39	e32b30c3-6ed3-42ce-ad17-69b26146f7e4	g.chr8:23539135delA	ENST00000380871.4	-	2	341	c.304delT	c.(304-306)tatfs	p.Y102fs	NKX3-1_ENST00000523261.1_Frame_Shift_Del_p.Y27fs	NM_006167.3	NP_006158.2	Q99801	NKX31_HUMAN	NK3 homeobox 1	102					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|androgen receptor signaling pathway (GO:0030521)|branching involved in prostate gland morphogenesis (GO:0060442)|branching morphogenesis of an epithelial tube (GO:0048754)|cellular response to drug (GO:0035690)|cellular response to hypoxia (GO:0071456)|cellular response to interleukin-1 (GO:0071347)|cellular response to steroid hormone stimulus (GO:0071383)|cellular response to tumor necrosis factor (GO:0071356)|dorsal aorta development (GO:0035907)|epithelial cell proliferation involved in salivary gland morphogenesis (GO:0060664)|heart development (GO:0007507)|male gonad development (GO:0008584)|metanephros development (GO:0001656)|mitotic cell cycle arrest (GO:0071850)|multicellular organismal development (GO:0007275)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|negative regulation of estrogen receptor binding (GO:0071899)|negative regulation of gene expression (GO:0010629)|negative regulation of insulin-like growth factor receptor signaling pathway (GO:0043569)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of transcription, DNA-templated (GO:0045892)|pharyngeal system development (GO:0060037)|positive regulation of androgen secretion (GO:2000836)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell death (GO:0010942)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of gene expression (GO:0010628)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of response to DNA damage stimulus (GO:2001022)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein kinase B signaling (GO:0043491)|regulation of transcription, DNA-templated (GO:0006355)|response to testosterone (GO:0033574)|salivary gland development (GO:0007431)|somitogenesis (GO:0001756)|steroid hormone mediated signaling pathway (GO:0043401)	intracellular (GO:0005622)|nucleus (GO:0005634)	androgen receptor activity (GO:0004882)|core promoter binding (GO:0001047)|estrogen receptor activity (GO:0030284)|estrogen receptor binding (GO:0030331)|histone deacetylase binding (GO:0042826)|protein kinase activator activity (GO:0030295)|protein self-association (GO:0043621)|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity (GO:0000983)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			large_intestine(3)|lung(4)|prostate(5)|skin(2)	14		Prostate(55;0.114)		Colorectal(74;0.0146)|COAD - Colon adenocarcinoma(73;0.061)|BRCA - Breast invasive adenocarcinoma(99;0.0708)		TCCAACAGATAAGACCCCAAG	0.527																																						ENST00000380871.4																			0				large_intestine(3)|lung(4)|prostate(5)|skin(2)	14						c.(304-306)atfs		NK3 homeobox 1							57	63	61					8																	23539135		2203	4300	6503	SO:0001589	frameshift_variant	4824				negative regulation of estrogen receptor binding|negative regulation of transcription, DNA-dependent|positive regulation of cell division|positive regulation of mitotic cell cycle|positive regulation of transcription from RNA polymerase II promoter	nucleus	estrogen receptor activity|estrogen receptor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region sequence-specific DNA binding	g.chr8:23539135delA		CCDS6042.1, CCDS59095.1	8p21.2	2012-03-09	2007-07-09	2002-10-04	ENSG00000167034	ENSG00000167034		"Homeoboxes / ANTP class : NKL subclass"	7838	protein-coding gene	gene with protein product		602041	"NK homeobox (Drosophila), family 3, A", "NK3 transcription factor related, locus 1 (Drosophila)"	NKX3A		9226374	Standard	NM_006167		Approved	NKX3.1, BAPX2	uc011kzx.2	Q99801	OTTHUMG00000097851	ENST00000380871.4:c.304delT	8.37:g.23539135delA	ENSP00000370253:p.Tyr102fs					NKX3-1_ENST00000523261.1_Frame_Shift_Del_p.Y27fs	p.Y102fs	NM_006167.3	NP_006158.2	Q99801	NKX31_HUMAN		Colorectal(74;0.0146)|COAD - Colon adenocarcinoma(73;0.061)|BRCA - Breast invasive adenocarcinoma(99;0.0708)	2	341	-		Prostate(55;0.114)	102					O15465|Q9H2P4|Q9H2P5|Q9H2P6|Q9H2P7|Q9HBG0	Frame_Shift_Del	DEL	ENST00000380871.4	37	c.304delT	CCDS6042.1																																																																																				0.527	NKX3-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215141.2			55	178						55	178	---	---	---	---	-	23539135	A	-	23539135	7	5	19	1	0	1	0	1	0	0	0	0	10455	362	13	0	404	0	NKX3-1	8	23539135	Frame_Shift_Del	DEL	A	TCGA-CH-5745-01A-11D-1576-08		23539135	122824887	23	761											
ZNF395	55893	broad.mit.edu	37	chr8	28209153	28209154	+	Frame_Shift_Ins	INS	-	-	A																															gaggtggtggaagagcagacINSagaggcaggccagtcatgct																										TCGA-CH-5745-01A-11D-1576-08	TCGA-CH-5745-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51db8439-c35f-472e-baf0-8e6e22833c39	e32b30c3-6ed3-42ce-ad17-69b26146f7e4	g.chr8:28209153_28209154insA	ENST00000344423.5	-	7	1222_1223	c.1091_1092insT	c.(1090-1092)ctgfs	p.L364fs	ZNF395_ENST00000523202.1_Frame_Shift_Ins_p.L364fs|ZNF395_ENST00000523095.1_Frame_Shift_Ins_p.L364fs	NM_018660.2	NP_061130.1	Q9H8N7	ZN395_HUMAN	zinc finger protein 395	364					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			cervix(1)|endometrium(1)|kidney(5)|large_intestine(6)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24		Ovarian(32;2.06e-05)		KIRC - Kidney renal clear cell carcinoma(542;0.102)|Kidney(114;0.123)|Colorectal(74;0.142)		GAAGAGCAGACAGAGGCAGGCC	0.663																																						ENST00000344423.5																			0				cervix(1)|endometrium(1)|kidney(5)|large_intestine(6)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						c.(1090-1092)ctcfs		zinc finger protein 395																																				SO:0001589	frameshift_variant	55893				transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding	g.chr8:28209153_28209154insA	AB044750	CCDS6067.1	8p21	2008-05-02			ENSG00000186918	ENSG00000186918		"Zinc fingers, C2H2-type"	18737	protein-coding gene	gene with protein product		609494				14625278	Standard	NM_018660		Approved	PRF-1, HDBP2, PBF, DKFZp434K1210	uc003xgr.3	Q9H8N7	OTTHUMG00000102137	ENST00000344423.5:c.1092dupT	8.37:g.28209154_28209154dupA	ENSP00000340494:p.Leu364fs					ZNF395_ENST00000523202.1_Frame_Shift_Ins_p.L364fs|ZNF395_ENST00000523095.1_Frame_Shift_Ins_p.L364fs	p.L364fs	NM_018660.2	NP_061130.1	Q9H8N7	ZN395_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.102)|Kidney(114;0.123)|Colorectal(74;0.142)	7	1222_1223	-		Ovarian(32;2.06e-05)	364					B3KUY7|D3DST4|Q6F6H2|Q9BY72|Q9NPB2|Q9NS57|Q9NS58|Q9NS59	Frame_Shift_Ins	INS	ENST00000344423.5	37	c.1091_1092insT	CCDS6067.1																																																																																				0.663	ZNF395-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219976.1			13	257						13	257	---	---	---	---	A	28209154	-	A	28209153	7	5	19	1	0	1	1	0	0	0	0	0	17878	465	17	0	465	0	ZNF395	8	28209153	Frame_Shift_Ins	INS	-	TCGA-CH-5745-01A-11D-1576-08	4670018	28209153	118154869	24	762											
PLEC	5339	broad.mit.edu	37	chr8	144995013	144995013	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctggtagagctcgcggtcGatgaccctgctctccagcag	6	9	13	13	3	1	2	0	1	1	1	4	3	1	2	2	2	4	5	2	2	1	1	rs375914011	byFrequency	TCGA-CH-5745-01A-11D-1576-08	TCGA-CH-5745-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51db8439-c35f-472e-baf0-8e6e22833c39	e32b30c3-6ed3-42ce-ad17-69b26146f7e4	g.chr8:144995013G>T	ENST00000322810.4	-	32	9556	c.9387C>A	c.(9385-9387)atC>atA	p.I3129I	PLEC_ENST00000398774.2_Silent_p.I2960I|PLEC_ENST00000354589.3_Silent_p.I2992I|PLEC_ENST00000354958.2_Silent_p.I2970I|PLEC_ENST00000356346.3_Silent_p.I2978I|PLEC_ENST00000436759.2_Silent_p.I3019I|PLEC_ENST00000357649.2_Silent_p.I2996I|PLEC_ENST00000527096.1_Silent_p.I3015I|PLEC_ENST00000345136.3_Silent_p.I2992I	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	3129	Globular 2.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)	p.I3019I(1)|p.I3129I(1)		NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						GCTCGCGGTCGATGACCCTGC	0.672																																						ENST00000322810.4																			2	Substitution - coding silent(2)	p.I3019I(1)|p.I3129I(1)	prostate(2)	NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						c.(9385-9387)atC>atA		plectin							14	17	16					8																	144995013		2006	4092	6098	SO:0001819	synonymous_variant	5339				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle	g.chr8:144995013G>T	U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"plectin 1, intermediate filament binding protein, 500kD", "epidermolysis bullosa simplex 1 (Ogna)", "plectin 1, intermediate filament binding protein 500kDa"	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.9387C>A	8.37:g.144995013G>T						PLEC_ENST00000398774.2_Silent_p.I2960I|PLEC_ENST00000354589.3_Silent_p.I2992I|PLEC_ENST00000527096.1_Silent_p.I3015I|PLEC_ENST00000436759.2_Silent_p.I3019I|PLEC_ENST00000354958.2_Silent_p.I2970I|PLEC_ENST00000356346.3_Silent_p.I2978I|PLEC_ENST00000345136.3_Silent_p.I2992I|PLEC_ENST00000357649.2_Silent_p.I2996I	p.I3129I	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN			32	9556	-			3129			Globular 2.		Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Silent	SNP	ENST00000322810.4	37	c.9387C>A	CCDS43772.1																																																																																				0.672	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	NM_000445		3	32	1	0	0.115264	1	0.123616	3	32					T	144995013	G	T	144995013	2	4	19	1	0	0	0	0	0	0	0	1	12052	1048	37	5		5	PLEC	8	144995013	Silent	SNP	G	TCGA-CH-5745-01A-11D-1576-08	116785860	144995013	1369009	25	763											
TRPM6	140803	broad.mit.edu	37	chr9	77448986	77448986	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaactgtccagatttttctCaaggaatgagaggaatggga	13	10	11	7	0	1	2	1	1	1	2	3	6	2	5	2	3	1	0	2	3	4	2			TCGA-CH-5745-01A-11D-1576-08	TCGA-CH-5745-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51db8439-c35f-472e-baf0-8e6e22833c39	e32b30c3-6ed3-42ce-ad17-69b26146f7e4	g.chr9:77448986C>A	ENST00000360774.1	-	6	834	c.597G>T	c.(595-597)ttG>ttT	p.L199F	TRPM6_ENST00000359047.2_Missense_Mutation_p.L199F|TRPM6_ENST00000376871.3_Missense_Mutation_p.L199F|TRPM6_ENST00000376864.4_Missense_Mutation_p.L199F|TRPM6_ENST00000361255.3_Missense_Mutation_p.L194F|TRPM6_ENST00000449912.2_Missense_Mutation_p.L194F|TRPM6_ENST00000451710.3_Missense_Mutation_p.L199F|TRPM6_ENST00000483186.1_5'Flank|TRPM6_ENST00000376872.3_Missense_Mutation_p.L199F	NM_017662.4	NP_060132.3	Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	199					calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|response to toxic substance (GO:0009636)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium channel activity (GO:0005262)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						AGATTTTTCTCAAGGAATGAG	0.403																																						ENST00000451710.3																			0				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						c.(595-597)ttG>ttT		transient receptor potential cation channel, subfamily M, member 6							135	125	128					9																	77448986		2203	4300	6503	SO:0001583	missense	140803				response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr9:77448986C>A	AK026281	CCDS6647.1, CCDS55318.1, CCDS55319.1	9q21.13	2011-12-14	2003-12-02		ENSG00000119121	ENSG00000119121		"Voltage-gated ion channels / Transient receptor potential cation channels"	17995	protein-coding gene	gene with protein product		607009	"hypomagnesemia, secondary hypocalcemia"	HOMG, HSH		10021370, 12032570, 16382100	Standard	NM_017662		Approved	CHAK2, FLJ22628	uc004ajk.1	Q9BX84	OTTHUMG00000020027	ENST00000360774.1:c.597G>T	9.37:g.77448986C>A	ENSP00000354006:p.Leu199Phe					TRPM6_ENST00000360774.1_Missense_Mutation_p.L199F|TRPM6_ENST00000359047.2_Missense_Mutation_p.L199F|TRPM6_ENST00000376864.4_Missense_Mutation_p.L199F|TRPM6_ENST00000449912.2_Missense_Mutation_p.L194F|TRPM6_ENST00000376871.3_Missense_Mutation_p.L199F|TRPM6_ENST00000376872.3_Missense_Mutation_p.L199F|TRPM6_ENST00000361255.3_Missense_Mutation_p.L194F	p.L199F			Q9BX84	TRPM6_HUMAN			6	834	-			199					Q6VPR8|Q6VPR9|Q6VPS0|Q6VPS1|Q6VPS2	Missense_Mutation	SNP	ENST00000360774.1	37	c.597G>T	CCDS6647.1	.	.	.	.	.	.	.	.	.	.	C	17.59	3.426378	0.62733	.	.	ENSG00000119121	ENST00000360774;ENST00000451710;ENST00000376872;ENST00000376871;ENST00000449912;ENST00000361255;ENST00000376870;ENST00000376864;ENST00000359047	T;T;T;T;T;T;T;T	0.62639	4.07;4.07;0.01;0.01;4.07;4.07;4.07;0.01	5.69	4.74	0.60224	.	0.066774	0.64402	D	0.000008	T	0.73931	0.3650	M	0.62723	1.935	0.42234	D	0.9919	D;D;D;D;P;P	0.76494	0.999;0.999;0.999;0.993;0.76;0.931	D;D;D;P;B;P	0.67548	0.952;0.952;0.952;0.863;0.379;0.789	T	0.76231	-0.3035	10	0.72032	D	0.01	.	12.6224	0.56610	0.0:0.799:0.1296:0.0713	.	199;199;199;199;199;194	Q9BX84-7;Q9BX84-6;Q9BX84-5;Q96LV9;Q9BX84;Q9BX84-3	.;.;.;.;TRPM6_HUMAN;.	F	199;199;199;199;194;194;198;199;199	ENSP00000354006:L199F;ENSP00000407341:L199F;ENSP00000366068:L199F;ENSP00000366067:L199F;ENSP00000396672:L194F;ENSP00000354962:L194F;ENSP00000366060:L199F;ENSP00000351942:L199F	ENSP00000351942:L199F	L	-	3	2	TRPM6	76638806	0.032000	0.19561	1.000000	0.80357	0.985000	0.73830	0.899000	0.28417	2.692000	0.91855	0.491000	0.48974	TTG		0.403	TRPM6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000052693.1	NM_017662		4	190	1	0	0.184627	1	0.192428	4	190					A	77448986	C	A	77448986	3	1	19	1	0	0	0	0	1	0	0	0	16587	825	29	5	5607	5	TRPM6	9	77448986	Missense_Mutation	SNP	C	TCGA-CH-5745-01A-11D-1576-08		77448986	63764445	26	764											
ZNF782	158431	broad.mit.edu	37	chr9	99580381	99580381	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acaattatatggtttctcccCggtgtgagttcgctgatgtt	7	16	10	8	2	1	2	0	2	1	0	3	2	1	2	2	2	0	4	2	2	3	5	rs566491974		TCGA-CH-5745-01A-11D-1576-08	TCGA-CH-5745-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51db8439-c35f-472e-baf0-8e6e22833c39	e32b30c3-6ed3-42ce-ad17-69b26146f7e4	g.chr9:99580381C>T	ENST00000481138.1	-	6	2585	c.1924G>A	c.(1924-1926)Ggg>Agg	p.G642R	ZNF782_ENST00000535338.1_Missense_Mutation_p.G510R|ZNF782_ENST00000466833.1_5'Flank	NM_001001662.1	NP_001001662.1	Q6ZMW2	ZN782_HUMAN	zinc finger protein 782	642					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.G642R(1)		NS(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(8)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)	33		Acute lymphoblastic leukemia(62;0.0527)				GGTTTCTCCCCGGTGTGAGTT	0.433													C|||	1	0.000199681	0	0	5008	,	,		18270	0		0	False		,,,				2504	0.001					ENST00000481138.1																			1	Substitution - Missense(1)	p.G642R(1)	prostate(1)	NS(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(8)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)	33						c.(1924-1926)Ggg>Agg		zinc finger protein 782							115	107	110					9																	99580381		2203	4300	6503	SO:0001583	missense	158431				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:99580381C>T	AK131468	CCDS35075.1	9q22.33	2013-01-08			ENSG00000196597	ENSG00000196597		"Zinc fingers, C2H2-type", "-"	33110	protein-coding gene	gene with protein product							Standard	NM_001001662		Approved	FLJ16636	uc004awp.1	Q6ZMW2	OTTHUMG00000020310	ENST00000481138.1:c.1924G>A	9.37:g.99580381C>T	ENSP00000419397:p.Gly642Arg					ZNF782_ENST00000535338.1_Missense_Mutation_p.G510R	p.G642R	NM_001001662.1	NP_001001662.1	Q6ZMW2	ZN782_HUMAN			6	2585	-		Acute lymphoblastic leukemia(62;0.0527)	642					B2RNR0	Missense_Mutation	SNP	ENST00000481138.1	37	c.1924G>A	CCDS35075.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	16.20|16.20	3.054586|3.054586	0.55218|0.55218	.|.	.|.	ENSG00000196597|ENSG00000196597	ENST00000481138;ENST00000535338|ENST00000289032	T;T|.	0.01629|.	4.72;4.72|.	3.06|3.06	2.16|2.16	0.27623|0.27623	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);|.	0.000000|.	0.33438|.	N|.	0.004905|.	T|T	0.51584|0.51584	0.1683|0.1683	M|M	0.66939|0.66939	2.045|2.045	0.28818|0.28818	N|N	0.89787|0.89787	D|.	0.56746|.	0.977|.	P|.	0.45610|.	0.487|.	T|T	0.47509|0.47509	-0.9112|-0.9112	10|5	0.66056|.	D|.	0.02|.	.|.	8.3002|8.3002	0.32010|0.32010	0.0:0.8768:0.0:0.1232|0.0:0.8768:0.0:0.1232	.|.	642|.	Q6ZMW2|.	ZN782_HUMAN|.	R|Q	642;510|630	ENSP00000419397:G642R;ENSP00000440624:G510R|.	ENSP00000419397:G642R|.	G|R	-|-	1|2	0|0	ZNF782|ZNF782	98620202|98620202	0.491000|0.491000	0.26019|0.26019	0.992000|0.992000	0.48379|0.48379	0.686000|0.686000	0.39977|0.39977	3.048000|3.048000	0.49862|0.49862	0.856000|0.856000	0.35383|0.35383	0.655000|0.655000	0.94253|0.94253	GGG|CGG		0.433	ZNF782-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356810.1	NM_001001662		7	233	0	0	0	1	0	7	233					T	99580381	C	T	99580381	3	4	19	1	0	0	0	0	1	0	0	0	18152	652	23	2	179	2	ZNF782	9	99580381	Missense_Mutation	SNP	C	TCGA-CH-5745-01A-11D-1576-08	22131395	99580381	41633050	27	765											
NRP1	8829	broad.mit.edu	37	chr10	33469152	33469152	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacagtacagcacgaccccaCagacagcccccaggaggacc	13	1	9	18	1	0	1	0	0	0	1	0	4	0	3	5	2	3	2	5	2	1	1	rs142822518		TCGA-CH-5745-01A-11D-1576-08	TCGA-CH-5745-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51db8439-c35f-472e-baf0-8e6e22833c39	e32b30c3-6ed3-42ce-ad17-69b26146f7e4	g.chr10:33469152C>T	ENST00000265371.4	-	18	3149	c.2624G>A	c.(2623-2625)tGt>tAt	p.C875Y	NRP1_ENST00000374867.2_Missense_Mutation_p.C875Y|NRP1_ENST00000395995.1_Missense_Mutation_p.C858Y|NRP1_ENST00000374875.1_Missense_Mutation_p.C687Y			O14786	NRP1_HUMAN	neuropilin 1	875					angiogenesis (GO:0001525)|angiogenesis involved in coronary vascular morphogenesis (GO:0060978)|artery morphogenesis (GO:0048844)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|axonogenesis involved in innervation (GO:0060385)|branchiomotor neuron axon guidance (GO:0021785)|cell adhesion (GO:0007155)|cell migration involved in sprouting angiogenesis (GO:0002042)|cell-cell signaling (GO:0007267)|cellular response to hepatocyte growth factor stimulus (GO:0035729)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|commissural neuron axon guidance (GO:0071679)|coronary artery morphogenesis (GO:0060982)|dendrite development (GO:0016358)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|endothelial cell chemotaxis (GO:0035767)|endothelial tip cell fate specification (GO:0097102)|facial nerve structural organization (GO:0021612)|gonadotrophin-releasing hormone neuronal migration to the hypothalamus (GO:0021828)|hepatocyte growth factor receptor signaling pathway (GO:0048012)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of neuron apoptotic process (GO:0043524)|nerve development (GO:0021675)|neural crest cell migration involved in autonomic nervous system development (GO:1901166)|neuron migration (GO:0001764)|organ morphogenesis (GO:0009887)|patterning of blood vessels (GO:0001569)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive chemotaxis (GO:0050918)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of cytokine activity (GO:0060301)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of retinal ganglion cell axon guidance (GO:1902336)|positive regulation of smooth muscle cell migration (GO:0014911)|protein localization to early endosome (GO:1902946)|regulation of retinal ganglion cell axon guidance (GO:0090259)|regulation of vesicle-mediated transport (GO:0060627)|renal artery morphogenesis (GO:0061441)|response to wounding (GO:0009611)|retina vasculature morphogenesis in camera-type eye (GO:0061299)|retinal ganglion cell axon guidance (GO:0031290)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|semaphorin-plexin signaling pathway involved in neuron projection guidance (GO:1902285)|signal transduction (GO:0007165)|sprouting angiogenesis (GO:0002040)|sympathetic ganglion development (GO:0061549)|sympathetic neuron projection extension (GO:0097490)|sympathetic neuron projection guidance (GO:0097491)|trigeminal nerve structural organization (GO:0021637)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|VEGF-activated neuropilin signaling pathway (GO:0038190)|VEGF-activated neuropilin signaling pathway involved in axon guidance (GO:1902378)	axon (GO:0030424)|cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|early endosome (GO:0005769)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|neurofilament (GO:0005883)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|semaphorin receptor complex (GO:0002116)|sorting endosome (GO:0097443)	coreceptor activity (GO:0015026)|cytokine binding (GO:0019955)|growth factor binding (GO:0019838)|heparin binding (GO:0008201)|metal ion binding (GO:0046872)|semaphorin receptor activity (GO:0017154)|vascular endothelial growth factor binding (GO:0038085)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(2)|breast(6)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	48					Palifermin(DB00039)|Pegaptanib(DB04895)	CACGACCCCACAGACAGCCCC	0.517																																					Melanoma(104;886 1489 44640 45944 51153)	ENST00000265371.4																			0				NS(2)|breast(6)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	48						c.(2623-2625)tGt>tAt		neuropilin 1	Palifermin(DB00039)|Pegaptanib(DB04895)						159	153	155					10																	33469152		2203	4300	6503	SO:0001583	missense	8829				axon guidance|cell adhesion|cell-cell signaling|organ morphogenesis|positive regulation of cell proliferation	extracellular region|integral to membrane|plasma membrane	growth factor binding|heparin binding|metal ion binding|vascular endothelial growth factor receptor activity	g.chr10:33469152C>T	AF016050	CCDS7177.1, CCDS31179.1, CCDS31180.1	10p12	2006-02-23			ENSG00000099250	ENSG00000099250		"CD molecules"	8004	protein-coding gene	gene with protein product		602069				9529250, 9331348	Standard	NM_003873		Approved	NRP, VEGF165R, CD304	uc001iwx.4	O14786	OTTHUMG00000019343	ENST00000265371.4:c.2624G>A	10.37:g.33469152C>T	ENSP00000265371:p.Cys875Tyr					NRP1_ENST00000374867.2_Missense_Mutation_p.C875Y|NRP1_ENST00000395995.1_Missense_Mutation_p.C858Y	p.C875Y			O14786	NRP1_HUMAN			18	3149	-			875					B0LPG9|O60461|Q5T7F1|Q5T7F2|Q5T7F3|Q86T59|Q96I90|Q96IH5	Missense_Mutation	SNP	ENST00000265371.4	37	c.2624G>A	CCDS7177.1	.	.	.	.	.	.	.	.	.	.	C	16.55	3.154509	0.57259	.	.	ENSG00000099250	ENST00000265371;ENST00000374875;ENST00000374867;ENST00000413802;ENST00000395995	D;D;D;D	0.97279	-3.2;-4.32;-3.2;-2.6	5.84	5.84	0.93424	Neuropilin-1, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.97601	0.9214	L	0.36672	1.1	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;0.999;1.0;1.0;0.999	D	0.98543	1.0633	10	0.87932	D	0	-24.0673	20.1551	0.98106	0.0:1.0:0.0:0.0	.	869;875;875;687;858	A8K9V7;Q68DN3;O14786;Q5JWQ6;E9PEP6	.;.;NRP1_HUMAN;.;.	Y	875;687;875;57;858	ENSP00000265371:C875Y;ENSP00000364009:C687Y;ENSP00000364001:C875Y;ENSP00000379317:C858Y	ENSP00000265371:C875Y	C	-	2	0	NRP1	33509158	1.000000	0.71417	0.313000	0.25210	0.265000	0.26407	7.487000	0.81328	2.760000	0.94817	0.655000	0.94253	TGT		0.517	NRP1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051203.2			6	335	0	0	0	1	0	6	335					T	33469152	C	T	33469152	3	4	19	1	0	0	0	0	1	0	0	0	10660	478	17	3	151	3	NRP1	10	33469152	Missense_Mutation	SNP	C	TCGA-CH-5745-01A-11D-1576-08		33469152	102065595	28	766											
PANK1	53354	broad.mit.edu	37	chr10	91359112	91359112	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agggtatgggttatcaaggcAgtacggctttttttgacaca	10	13	12	6	1	1	1	1	1	0	0	1	1	1	1	0	4	1	5	0	4	4	6			TCGA-CH-5745-01A-11D-1576-08	TCGA-CH-5745-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51db8439-c35f-472e-baf0-8e6e22833c39	e32b30c3-6ed3-42ce-ad17-69b26146f7e4	g.chr10:91359112A>T	ENST00000307534.4	-	3	1362	c.1207T>A	c.(1207-1209)Tgc>Agc	p.C403S	PANK1_ENST00000371774.2_Missense_Mutation_p.C205S|PANK1_ENST00000342512.3_Missense_Mutation_p.C178S|PANK1_ENST00000322191.6_Missense_Mutation_p.C178S	NM_148977.2	NP_683878.1	Q8TE04	PANK1_HUMAN	pantothenate kinase 1	403					coenzyme A biosynthetic process (GO:0015937)|coenzyme biosynthetic process (GO:0009108)|pantothenate metabolic process (GO:0015939)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cell periphery (GO:0071944)|clathrin coat (GO:0030118)|cytosol (GO:0005829)|nucleus (GO:0005634)|recycling endosome (GO:0055037)	ATP binding (GO:0005524)|pantothenate kinase activity (GO:0004594)	p.C403S(1)		cervix(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)	11						TTATCAAGGCAGTACGGCTTT	0.448																																						ENST00000307534.4																			1	Substitution - Missense(1)	p.C403S(1)	prostate(1)	cervix(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)	11						c.(1207-1209)Tgc>Agc		pantothenate kinase 1	Bezafibrate(DB01393)						237	214	222					10																	91359112		2203	4300	6503	SO:0001583	missense	53354				coenzyme A biosynthetic process|pantothenate metabolic process	cytosol|nucleus	ATP binding|pantothenate kinase activity	g.chr10:91359112A>T	AF355198	CCDS7405.1, CCDS7406.1, CCDS31244.1	10q23.31	2008-05-14	2002-11-13	2002-11-15	ENSG00000152782	ENSG00000152782			8598	protein-coding gene	gene with protein product		606160	"pantothenate kinase"	PANK		11809413	Standard	NM_148977		Approved	MGC24596, PANK1a, PANK1b	uc001kgp.2	Q8TE04	OTTHUMG00000018718	ENST00000307534.4:c.1207T>A	10.37:g.91359112A>T	ENSP00000302108:p.Cys403Ser					PANK1_ENST00000342512.3_Missense_Mutation_p.C178S|PANK1_ENST00000371774.2_Missense_Mutation_p.C205S|PANK1_ENST00000322191.6_Missense_Mutation_p.C178S	p.C403S	NM_148977.2	NP_683878.1	Q8TE04	PANK1_HUMAN			3	1362	-			403					A6NIP0|Q7RTX6|Q7Z495|Q8TBQ8	Missense_Mutation	SNP	ENST00000307534.4	37	c.1207T>A	CCDS31244.1	.	.	.	.	.	.	.	.	.	.	A	8.051	0.766013	0.15983	.	.	ENSG00000152782	ENST00000342512;ENST00000322191;ENST00000371774;ENST00000307534;ENST00000371775	D;D;D;D	0.99454	-5.92;-5.92;-5.92;-5.92	6.02	4.85	0.62838	.	0.152504	0.64402	D	0.000016	D	0.95541	0.8551	N	0.03608	-0.345	0.42059	D	0.991156	B;B;B;B	0.31655	0.0;0.334;0.0;0.0	B;B;B;B	0.24848	0.0;0.056;0.001;0.0	D	0.95499	0.8576	10	0.09338	T	0.73	.	12.4549	0.55697	0.8744:0.0:0.0:0.1256	.	205;403;178;178	Q8TE04-4;Q8TE04;Q8TE04-3;Q8TE04-2	.;PANK1_HUMAN;.;.	S	178;178;205;403;266	ENSP00000345118:C178S;ENSP00000318526:C178S;ENSP00000360839:C205S;ENSP00000302108:C403S	ENSP00000302108:C403S	C	-	1	0	PANK1	91349092	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	3.242000	0.51384	1.042000	0.40150	0.528000	0.53228	TGC		0.448	PANK1-201	KNOWN	basic|CCDS	protein_coding	protein_coding				38	338	0	0	0	1	0	38	338					T	91359112	A	T	91359112	3	4	19	1	0	0	0	0	1	0	0	0	11416	188	7	5	609	5	PANK1	10	91359112	Missense_Mutation	SNP	A	TCGA-CH-5745-01A-11D-1576-08	57889960	91359112	44175635	29	767											
C10orf81	79949	broad.mit.edu	37	chr10	115527188	115527188	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaatgccaccctgatgaggtCatgtccatcagaaccactaa	14	8	7	12	0	2	3	2	2	0	1	3	3	3	3	4	1	2	0	4	1	3	1			TCGA-CH-5745-01A-11D-1576-08	TCGA-CH-5745-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51db8439-c35f-472e-baf0-8e6e22833c39	e32b30c3-6ed3-42ce-ad17-69b26146f7e4	g.chr10:115527188C>T	ENST00000369310.3	+	4	853	c.291C>T	c.(289-291)gtC>gtT	p.V97V	PLEKHS1_ENST00000361048.1_Silent_p.V103V|PLEKHS1_ENST00000369312.4_Silent_p.V15V	NM_182601.1	NP_872407.1	Q5SXH7	PKHS1_HUMAN	pleckstrin homology domain containing, family S member 1	97	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.							p.V103V(1)|p.V15V(1)									CTGATGAGGTCATGTCCATCA	0.403																																						ENST00000361048.1																			2	Substitution - coding silent(2)	p.V103V(1)|p.V15V(1)	prostate(2)								c.(307-309)gtC>gtT		pleckstrin homology domain containing, family S member 1							95	93	93					10																	115527188		2203	4300	6503	SO:0001819	synonymous_variant	79949							g.chr10:115527188C>T	AK027190	CCDS7583.1, CCDS53580.1, CCDS53581.1	10q26.11	2013-01-11	2012-05-31	2012-05-31	ENSG00000148735	ENSG00000148735		"Pleckstrin homology (PH) domain containing"	26285	protein-coding gene	gene with protein product			"chromosome 10 open reading frame 81"	C10orf81		12477932	Standard	NM_024889		Approved	FLJ23537, bA211N11.2	uc001lat.2	Q5SXH7	OTTHUMG00000019074	ENST00000369310.3:c.291C>T	10.37:g.115527188C>T						PLEKHS1_ENST00000369310.3_Silent_p.V97V|PLEKHS1_ENST00000369312.4_Silent_p.V15V	p.V103V	NM_024889.4	NP_079165.3					5	636	+								A8KA02|B3KX00|B6EDE1|Q5SXH8|Q5SXI0|Q6ZQR5|Q8NE42|Q9H5D9	Silent	SNP	ENST00000369310.3	37	c.309C>T	CCDS53580.1																																																																																				0.403	PLEKHS1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050432.1	NM_024889		25	73	0	0	0	1	0	25	73					T	115527188	C	T	115527188	2	4	19	1	0	0	0	0	0	0	0	1	1619	813	29	3		3	C10orf81	10	115527188	Silent	SNP	C	TCGA-CH-5745-01A-11D-1576-08	24168076	115527188	20007559	30	768											
HBG2	3048	broad.mit.edu	37	chr11	5275542	5275542	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgaagttctcaggatccaCatgcagcttgtcacagtgca	10	11	9	11	0	2	1	2	1	1	0	4	2	3	2	1	1	3	4	1	1	1	3			TCGA-CH-5745-01A-11D-1576-08	TCGA-CH-5745-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51db8439-c35f-472e-baf0-8e6e22833c39	e32b30c3-6ed3-42ce-ad17-69b26146f7e4	g.chr11:5275542C>T	ENST00000380259.2	-	7	1535	c.295G>A	c.(295-297)Gtg>Atg	p.V99M	HBG2_ENST00000380252.1_Missense_Mutation_p.V89M|HBG2_ENST00000336906.4_Missense_Mutation_p.V99M			P69892	HBG2_HUMAN	hemoglobin, gamma G	99					blood coagulation (GO:0007596)	blood microparticle (GO:0072562)|cytosol (GO:0005829)|hemoglobin complex (GO:0005833)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxygen binding (GO:0019825)|oxygen transporter activity (GO:0005344)	p.V99M(1)		endometrium(1)|large_intestine(2)|lung(7)|prostate(1)|skin(2)	13		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.76e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TCAGGATCCACATGCAGCTTG	0.498																																						ENST00000380259.2																			1	Substitution - Missense(1)	p.V99M(1)	prostate(1)	endometrium(1)|large_intestine(2)|lung(7)|prostate(1)|skin(2)	13						c.(295-297)Gtg>Atg		hemoglobin, gamma G							166	129	141					11																	5275542		2201	4296	6497	SO:0001583	missense	3048							g.chr11:5275542C>T	BC029387	CCDS7755.1	11p15.5	2014-05-19			ENSG00000196565	ENSG00000196565			4832	protein-coding gene	gene with protein product		142250				2649166	Standard	NM_000184		Approved	HBG-T1		P69892	OTTHUMG00000066673	ENST00000380259.2:c.295G>A	11.37:g.5275542C>T	ENSP00000369609:p.Val99Met					HBG2_ENST00000336906.4_Missense_Mutation_p.V99M|HBG2_ENST00000380252.1_Missense_Mutation_p.V89M	p.V99M						Epithelial(150;2.76e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	7	1535	-		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)						A8MZE0|P02096|P62027|Q14491|Q68NH9|Q96FH6|Q96FH7	Missense_Mutation	SNP	ENST00000380259.2	37	c.295G>A	CCDS7755.1	.	.	.	.	.	.	.	.	.	.	C	19.34	3.808955	0.70797	.	.	ENSG00000196565	ENST00000380252;ENST00000380259;ENST00000336906;ENST00000380247	D;D;D	0.96940	-4.18;-4.18;-4.18	3.41	2.46	0.29980	Globin-like (2);Globin, structural domain (2);	0.071029	0.56097	U	0.000034	D	0.98150	0.9389	M	0.92367	3.3	0.58432	D	0.999996	D;D	0.89917	1.0;1.0	D;D	0.79784	0.989;0.993	D	0.98198	1.0466	10	0.87932	D	0	.	10.6932	0.45884	0.0:0.8991:0.0:0.1009	.	99;99	P69892;P69891	HBG2_HUMAN;HBG1_HUMAN	M	89;99;99;99	ENSP00000369602:V89M;ENSP00000369609:V99M;ENSP00000338082:V99M	ENSP00000338082:V99M	V	-	1	0	HBG2	5232118	1.000000	0.71417	0.852000	0.33557	0.981000	0.71138	5.473000	0.66774	0.956000	0.37904	0.650000	0.86243	GTG		0.498	HBG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142967.2	NM_000184		46	276	0	0	0	1	0	46	276					T	5275542	C	T	5275542	3	4	19	1	0	0	0	0	1	0	0	0	6983	478	17	3	156	3	HBG2	11	5275542	Missense_Mutation	SNP	C	TCGA-CH-5745-01A-11D-1576-08		5275542	129730974	31	769											
MRGPRX2	117194	broad.mit.edu	37	chr11	19077003	19077003	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccggggtgccctgacggaagCatccttcactgtgatccacc	7	8	11	15	2	1	2	1	2	0	0	3	3	3	3	5	3	2	1	5	3	1	1			TCGA-CH-5745-01A-11D-1576-08	TCGA-CH-5745-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51db8439-c35f-472e-baf0-8e6e22833c39	e32b30c3-6ed3-42ce-ad17-69b26146f7e4	g.chr11:19077003C>A	ENST00000329773.2	-	2	1034	c.947G>T	c.(946-948)tGc>tTc	p.C316F		NM_054030.2	NP_473371.1	Q96LB1	MRGX2_HUMAN	MAS-related GPR, member X2	316					positive regulation of cytokinesis (GO:0032467)|sensory perception of pain (GO:0019233)|sleep (GO:0030431)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|neuropeptide binding (GO:0042923)			NS(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	15						CTGACGGAAGCATCCTTCACT	0.552																																					GBM(198;1966 2199 4849 37227 49954)	ENST00000329773.2																			0				NS(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	15						c.(946-948)tGc>tTc		MAS-related GPR, member X2							66	67	67					11																	19077003		2199	4293	6492	SO:0001583	missense	117194				sensory perception of pain|sleep	plasma membrane	G-protein coupled receptor activity|neuropeptide binding	g.chr11:19077003C>A		CCDS7847.1	11p15.1	2013-10-10			ENSG00000183695	ENSG00000183695		"GPCR / Class A : Orphans"	17983	protein-coding gene	gene with protein product		607228				11551509	Standard	NM_054030		Approved	MRGX2	uc001mph.3	Q96LB1	OTTHUMG00000166098	ENST00000329773.2:c.947G>T	11.37:g.19077003C>A	ENSP00000333800:p.Cys316Phe						p.C316F	NM_054030.2	NP_473371.1	Q96LB1	MRGX2_HUMAN			2	1034	-			316					B5B0C7|Q4QXW4|Q4QXW7|Q4QXX0|Q4QXX2|Q4QXX3|Q4QXX4|Q4QXX6|Q4QXX7	Missense_Mutation	SNP	ENST00000329773.2	37	c.947G>T	CCDS7847.1	.	.	.	.	.	.	.	.	.	.	.	5.741	0.321201	0.10845	.	.	ENSG00000183695	ENST00000329773	T	0.05513	3.43	4.71	0.58	0.17402	.	1.271040	0.05154	N	0.496474	T	0.04907	0.0132	N	0.22421	0.69	0.09310	N	1	B	0.14438	0.01	B	0.09377	0.004	T	0.42849	-0.9427	10	0.42905	T	0.14	.	3.7135	0.08428	0.1545:0.4124:0.3434:0.0897	.	316	Q96LB1	MRGX2_HUMAN	F	316	ENSP00000333800:C316F	ENSP00000333800:C316F	C	-	2	0	MRGPRX2	19033579	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	-0.039000	0.12124	0.122000	0.18314	0.650000	0.86243	TGC		0.552	MRGPRX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387819.1	NM_054030		4	134	1	0	0.150653	1	0.159262	4	134					A	19077003	C	A	19077003	3	1	19	1	0	0	0	0	1	0	0	0	9767	710	25	5	49	5	MRGPRX2	11	19077003	Missense_Mutation	SNP	C	TCGA-CH-5745-01A-11D-1576-08	13801461	19077003	115929513	32	770											
OR5D16	390144	broad.mit.edu	37	chr11	55606429	55606429	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtattttttcctcaaccacCtctcctttgtggatttctgc	5	19	5	12	0	3	0	1	0	2	0	5	1	4	1	4	1	2	1	4	1	2	6			TCGA-CH-5745-01A-11D-1576-08	TCGA-CH-5745-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51db8439-c35f-472e-baf0-8e6e22833c39	e32b30c3-6ed3-42ce-ad17-69b26146f7e4	g.chr11:55606429C>A	ENST00000378396.1	+	1	202	c.202C>A	c.(202-204)Ctc>Atc	p.L68I		NM_001005496.1	NP_001005496.1	Q8NGK9	OR5DG_HUMAN	olfactory receptor, family 5, subfamily D, member 16	68						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L68I(1)		cervix(1)|endometrium(2)|large_intestine(4)|lung(26)|ovary(5)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	44		all_epithelial(135;0.208)				CCTCAACCACCTCTCCTTTGT	0.433																																						ENST00000378396.1																			1	Substitution - Missense(1)	p.L68I(1)	prostate(1)	cervix(1)|endometrium(2)|large_intestine(4)|lung(26)|ovary(5)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	44						c.(202-204)Ctc>Atc		olfactory receptor, family 5, subfamily D, member 16							192	188	189					11																	55606429		2201	4296	6497	SO:0001583	missense	390144				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55606429C>A	AB065783	CCDS31512.1	11q11	2012-08-09			ENSG00000205029	ENSG00000205029		"GPCR / Class A : Olfactory receptors"	15283	protein-coding gene	gene with protein product							Standard	NM_001005496		Approved		uc010rio.2	Q8NGK9	OTTHUMG00000154233	ENST00000378396.1:c.202C>A	11.37:g.55606429C>A	ENSP00000367649:p.Leu68Ile						p.L68I	NM_001005496.1	NP_001005496.1	Q8NGK9	OR5DG_HUMAN			1	202	+		all_epithelial(135;0.208)	68					Q6IF65|Q96RB4	Missense_Mutation	SNP	ENST00000378396.1	37	c.202C>A	CCDS31512.1	.	.	.	.	.	.	.	.	.	.	.	17.13	3.309555	0.60414	.	.	ENSG00000205029	ENST00000378396	T	0.00502	6.95	4.05	1.65	0.23941	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.02848	0.0085	H	0.97962	4.115	0.24703	N	0.99324	D	0.89917	1.0	D	0.87578	0.998	T	0.19976	-1.0289	9	0.87932	D	0	-37.5826	6.2733	0.20966	0.0:0.6452:0.0:0.3548	.	68	Q8NGK9	OR5DG_HUMAN	I	68	ENSP00000367649:L68I	ENSP00000367649:L68I	L	+	1	0	OR5D16	55363005	0.000000	0.05858	0.379000	0.26080	0.974000	0.67602	-0.235000	0.09016	0.856000	0.35383	0.530000	0.56133	CTC		0.433	OR5D16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334506.1	NM_001005496		77	475	1	0	3.1711e-36	1	3.78486e-36	77	475					A	55606429	C	A	55606429	3	1	19	1	0	0	0	0	1	0	0	0	11156	681	24	5	204	5	OR5D16	11	55606429	Missense_Mutation	SNP	C	TCGA-CH-5745-01A-11D-1576-08	36529426	55606429	79400087	33	771											
FEN1	746	broad.mit.edu	37	chr11	61563030	61563030	+	5'Flank	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gaccaccagccacctgatggGcatgttctaccgcaccattc	9	8	8	16	1	1	1	0	1	1	0	2	2	1	1	6	1	2	3	6	1	1	3			TCGA-CH-5745-01A-11D-1576-08	TCGA-CH-5745-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51db8439-c35f-472e-baf0-8e6e22833c39	e32b30c3-6ed3-42ce-ad17-69b26146f7e4	g.chr11:61563030G>A	ENST00000537328.1	-	0	0				MIR611_ENST00000384869.1_RNA|FADS2_ENST00000574708.1_Intron|TMEM258_ENST00000543510.1_5'Flank|FEN1_ENST00000305885.2_Missense_Mutation_p.G66D	NM_014206.3	NP_055021.1	P61165	TM258_HUMAN	transmembrane protein 258							integral component of membrane (GO:0016021)											CACCTGATGGGCATGTTCTAC	0.542																																						ENST00000305885.2																			0				endometrium(1)|large_intestine(4)|lung(1)|ovary(1)	7						c.(196-198)gGc>gAc	Editing and processing nucleases	flap structure-specific endonuclease 1							94	82	86					11																	61563030		2202	4299	6501	SO:0001631	upstream_gene_variant	2237				base-excision repair|DNA replication, removal of RNA primer|double-strand break repair|phosphatidylinositol-mediated signaling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|UV protection	mitochondrion|nucleolus|nucleoplasm	5'-3' exonuclease activity|5'-flap endonuclease activity|damaged DNA binding|double-stranded DNA binding|double-stranded DNA specific exodeoxyribonuclease activity|metal ion binding|protein binding|ribonuclease H activity	g.chr11:61563030G>A		CCDS8009.1	11q12.2	2012-12-03	2012-12-03	2012-12-03	ENSG00000134825	ENSG00000134825			1164	protein-coding gene	gene with protein product			"chromosome 11 open reading frame 10"	C11orf10		12427278	Standard	NM_014206		Approved		uc001nsf.3	P61165	OTTHUMG00000168172		11.37:g.61563030G>A	Exception_encountered					FADS2_ENST00000574708.1_Intron	p.G66D	NM_004111.5	NP_004102.1	P39748	FEN1_HUMAN			2	610	+			66			N-domain.		A8K6L8|Q9D953|Q9Y2Q7	Missense_Mutation	SNP	ENST00000537328.1	37	c.197G>A	CCDS8009.1	.	.	.	.	.	.	.	.	.	.	G	19.41	3.822793	0.71028	.	.	ENSG00000168496	ENST00000305885;ENST00000535723	T;T	0.52983	0.64;0.64	5.44	5.44	0.79542	XPG N-terminal (2);	0.000000	0.85682	D	0.000000	D	0.83225	0.5208	H	0.99336	4.52	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.90227	0.4276	10	0.87932	D	0	-24.1451	19.6661	0.95893	0.0:0.0:1.0:0.0	.	66	P39748	FEN1_HUMAN	D	66	ENSP00000305480:G66D;ENSP00000445692:G66D	ENSP00000305480:G66D	G	+	2	0	FEN1	61319606	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	9.348000	0.97062	2.724000	0.93272	0.561000	0.74099	GGC		0.542	TMEM258-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398577.1	NM_014206		4	118	0	0	0	1	0	4	118					A	61563030	G	A	61563030	1	1	19	0	1	0	0	0	0	0	0	0	5812	1203	42	3		3	FEN1	11	61563030	5'Flank	SNP	G	TCGA-CH-5745-01A-11D-1576-08	5956601	61563030	73443486	34	772											
GRM5	2915	broad.mit.edu	37	chr11	88583140	88583140	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatcagcagacctctcaccGtcatgccctcacagaagcag	11	6	7	17	1	4	2	4	0	1	2	5	2	4	2	4	0	3	2	4	0	1	0			TCGA-CH-5745-01A-11D-1576-08	TCGA-CH-5745-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51db8439-c35f-472e-baf0-8e6e22833c39	e32b30c3-6ed3-42ce-ad17-69b26146f7e4	g.chr11:88583140G>A	ENST00000305447.4	-	2	994	c.845C>T	c.(844-846)aCg>aTg	p.T282M	GRM5_ENST00000418177.2_Missense_Mutation_p.T282M|GRM5_ENST00000455756.2_Missense_Mutation_p.T282M|GRM5_ENST00000393297.1_Missense_Mutation_p.T282M|GRM5_ENST00000305432.5_Missense_Mutation_p.T282M	NM_001143831.2	NP_001137303.1	P41594	GRM5_HUMAN	glutamate receptor, metabotropic 5	282					activation of MAPKKK activity (GO:0000185)|cognition (GO:0050890)|desensitization of G-protein coupled receptor protein signaling pathway (GO:0002029)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|learning (GO:0007612)|locomotory behavior (GO:0007626)|negative regulation of locomotion (GO:0040013)|phospholipase C-activating G-protein coupled glutamate receptor signaling pathway (GO:0007206)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein phosphorylation (GO:0006468)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of transcription, DNA-templated (GO:0006355)|synaptic transmission (GO:0007268)	astrocyte projection (GO:0097449)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)	p.T282M(2)		NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)			Acamprosate(DB00659)|Rufinamide(DB06201)	ACCTCTCACCGTCATGCCCTC	0.522																																						ENST00000418177.2																			2	Substitution - Missense(2)	p.T282M(2)	prostate(2)	NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90						c.(844-846)aCg>aTg		glutamate receptor, metabotropic 5	Acamprosate(DB00659)						62	65	64					11																	88583140		2201	4299	6500	SO:0001583	missense	2915				activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	g.chr11:88583140G>A	D28538	CCDS8283.1, CCDS44694.1	11q14.3	2014-06-12			ENSG00000168959	ENSG00000168959		"GPCR / Class C : Glutamate receptors, metabotropic", "Glutamate receptors"	4597	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 86"	604102				7908515	Standard	NM_001143831		Approved	MGLUR5, GPRC1E, mGlu5, PPP1R86	uc001pcq.3	P41594	OTTHUMG00000134306	ENST00000305447.4:c.845C>T	11.37:g.88583140G>A	ENSP00000306138:p.Thr282Met					GRM5_ENST00000393297.1_Missense_Mutation_p.T282M|GRM5_ENST00000305447.4_Missense_Mutation_p.T282M|GRM5_ENST00000305432.5_Missense_Mutation_p.T282M|GRM5_ENST00000455756.2_Missense_Mutation_p.T282M	p.T282M			P41594	GRM5_HUMAN			3	1212	-		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)	282					Q6J164	Missense_Mutation	SNP	ENST00000305447.4	37	c.845C>T	CCDS44694.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.370915	0.82573	.	.	ENSG00000168959	ENST00000418177;ENST00000455756;ENST00000305432;ENST00000305447;ENST00000393297	D;D;D;D;D	0.83335	-1.71;-1.71;-1.71;-1.71;-1.71	5.39	5.39	0.77823	Extracellular ligand-binding receptor (1);	0.000000	0.85682	D	0.000000	D	0.91033	0.7179	M	0.73962	2.25	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.97110	0.998;1.0	D	0.90474	0.4455	9	.	.	.	.	19.1659	0.93557	0.0:0.0:1.0:0.0	.	282;282	P41594-2;P41594	.;GRM5_HUMAN	M	282	ENSP00000402912:T282M;ENSP00000405690:T282M;ENSP00000305905:T282M;ENSP00000306138:T282M;ENSP00000376975:T282M	.	T	-	2	0	GRM5	88222788	1.000000	0.71417	0.969000	0.41365	0.840000	0.47671	9.033000	0.93741	2.528000	0.85240	0.563000	0.77884	ACG		0.522	GRM5-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000259226.1	NM_000842		53	112	0	0	0	1	0	53	112					A	88583140	G	A	88583140	3	1	19	1	0	0	0	0	1	0	0	0	6800	1145	40	1	2825	1	GRM5	11	88583140	Missense_Mutation	SNP	G	TCGA-CH-5745-01A-11D-1576-08	27020110	88583140	46423376	35	773											
PTPRO	5800	broad.mit.edu	37	chr12	15731856	15731856	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cactgaatcgatgtaaaaacCgttacacaaacatcctacca	17	8	4	12	2	0	1	0	1	0	0	2	2	1	1	3	0	4	2	3	0	7	3			TCGA-CH-5745-01A-11D-1576-08	TCGA-CH-5745-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51db8439-c35f-472e-baf0-8e6e22833c39	e32b30c3-6ed3-42ce-ad17-69b26146f7e4	g.chr12:15731856C>T	ENST00000281171.4	+	20	3229	c.2899C>T	c.(2899-2901)Cgt>Tgt	p.R967C	PTPRO_ENST00000544244.1_Missense_Mutation_p.R128C|PTPRO_ENST00000542557.1_Missense_Mutation_p.R128C|PTPRO_ENST00000348962.2_Missense_Mutation_p.R939C|PTPRO_ENST00000445537.2_Missense_Mutation_p.R156C|PTPRO_ENST00000442921.2_Missense_Mutation_p.R156C	NM_030667.2	NP_109592.1	Q16827	PTPRO_HUMAN	protein tyrosine phosphatase, receptor type, O	967	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				axon guidance (GO:0007411)|cell morphogenesis (GO:0000902)|glomerular visceral epithelial cell differentiation (GO:0072112)|glomerulus development (GO:0032835)|lamellipodium assembly (GO:0030032)|monocyte chemotaxis (GO:0002548)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of glomerular filtration (GO:0003105)|negative regulation of neuron projection development (GO:0010977)|negative regulation of retinal ganglion cell axon guidance (GO:0090260)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of glomerular filtration (GO:0003093)|slit diaphragm assembly (GO:0036060)	apical plasma membrane (GO:0016324)|axon (GO:0030424)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	phosphatase activity (GO:0016791)|protein homodimerization activity (GO:0042803)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)|Wnt-protein binding (GO:0017147)	p.R967C(1)		NS(2)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(11)|lung(30)|ovary(2)|prostate(1)|skin(17)|upper_aerodigestive_tract(1)	74		Hepatocellular(102;0.244)				ATGTAAAAACCGTTACACAAA	0.393																																						ENST00000281171.4																			1	Substitution - Missense(1)	p.R967C(1)	prostate(1)	NS(2)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(11)|lung(30)|ovary(2)|prostate(1)|skin(17)|upper_aerodigestive_tract(1)	74						c.(2899-2901)Cgt>Tgt		protein tyrosine phosphatase, receptor type, O							201	178	185					12																	15731856		2203	4300	6503	SO:0001583	missense	5800					integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr12:15731856C>T	U20489	CCDS8674.1, CCDS8675.1, CCDS44837.1, CCDS53754.1	12p13-p12	2013-02-11			ENSG00000151490	ENSG00000151490		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Fibronectin type III domain containing"	9678	protein-coding gene	gene with protein product	"osteoclastic transmembrane protein-tyrosine phosphatase"	600579				7519601, 7665166, 21722858	Standard	NM_030667		Approved	PTPU2, GLEPP1, PTP-U2, PTP-oc, NPHS6	uc001rcv.2	Q16827	OTTHUMG00000168786	ENST00000281171.4:c.2899C>T	12.37:g.15731856C>T	ENSP00000281171:p.Arg967Cys					PTPRO_ENST00000442921.2_Missense_Mutation_p.R156C|PTPRO_ENST00000445537.2_Missense_Mutation_p.R156C|PTPRO_ENST00000544244.1_Missense_Mutation_p.R128C|PTPRO_ENST00000348962.2_Missense_Mutation_p.R939C|PTPRO_ENST00000542557.1_Missense_Mutation_p.R128C	p.R967C	NM_030667.2	NP_109592.1	Q16827	PTPRO_HUMAN			20	3229	+		Hepatocellular(102;0.244)	967			Tyrosine-protein phosphatase.		A0AV39|Q13101|Q8IYG3|Q9UBF0|Q9UBT5	Missense_Mutation	SNP	ENST00000281171.4	37	c.2899C>T	CCDS8675.1	.	.	.	.	.	.	.	.	.	.	C	24.2	4.505464	0.85282	.	.	ENSG00000151490	ENST00000281171;ENST00000348962;ENST00000442921;ENST00000542557;ENST00000445537;ENST00000544244	T;T;T;T;T;T	0.35789	1.29;1.29;1.29;1.29;1.29;1.29	4.98	4.98	0.66077	Protein-tyrosine phosphatase, receptor/non-receptor type (3);	0.000000	0.49305	D	0.000154	T	0.76955	0.4060	H	0.99058	4.415	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;1.0	D	0.87080	0.2165	10	0.87932	D	0	.	18.4381	0.90653	0.0:1.0:0.0:0.0	.	128;939;967	Q9UBT5;Q16827-2;Q16827	.;.;PTPRO_HUMAN	C	967;939;156;128;156;128	ENSP00000281171:R967C;ENSP00000343434:R939C;ENSP00000404188:R156C;ENSP00000437571:R128C;ENSP00000393449:R156C;ENSP00000439234:R128C	ENSP00000281171:R967C	R	+	1	0	PTPRO	15623123	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.351000	0.59398	2.584000	0.87258	0.650000	0.86243	CGT		0.393	PTPRO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401079.1			21	129	0	0	0	1	0	21	129					T	15731856	C	T	15731856	3	4	19	1	0	0	0	0	1	0	0	0	12809	652	23	2	2977	2	PTPRO	12	15731856	Missense_Mutation	SNP	C	TCGA-CH-5745-01A-11D-1576-08		15731856	118120039	36	774											
TCTN2	79867	broad.mit.edu	37	chr12	124171487	124171488	+	Frame_Shift_Ins	INS	-	-	ACGAC																															agctctgctctgctgggacgINSacgacacgtggtgtccccga																								rs199981419		TCGA-CH-5745-01A-11D-1576-08	TCGA-CH-5745-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51db8439-c35f-472e-baf0-8e6e22833c39	e32b30c3-6ed3-42ce-ad17-69b26146f7e4	g.chr12:124171487_124171488insACGAC	ENST00000303372.5	+	6	797_798	c.669_670insACGAC	c.(670-672)acgfs	p.T224fs	TCTN2_ENST00000426174.2_Frame_Shift_Ins_p.T223fs	NM_001143850.2|NM_024809.4	NP_001137322.1|NP_079085.2	Q96GX1	TECT2_HUMAN	tectonic family member 2	224					cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|smoothened signaling pathway (GO:0007224)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|TCTN-B9D complex (GO:0036038)				breast(2)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000163)|Epithelial(86;0.000502)|all cancers(50;0.00451)		CTGCTGGGACGACGACACGTGG	0.525																																						ENST00000303372.5																			0				breast(2)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30						c.(667-672)accgacfs		tectonic family member 2																																				SO:0001589	frameshift_variant	79867				cilium assembly|smoothened signaling pathway	integral to membrane		g.chr12:124171487_124171488insACGAC	AK056924	CCDS9253.1, CCDS45007.1	12q24.31	2011-04-12	2007-08-20	2007-08-20	ENSG00000168778	ENSG00000168778		"Tectonic proteins"	25774	protein-coding gene	gene with protein product	"Meckel syndrome, type 8"	613846	"chromosome 12 open reading frame 38"	C12orf38		21462283	Standard	NM_024809		Approved	FLJ12975, TECT2, MKS8	uc001ufp.3	Q96GX1	OTTHUMG00000168700	ENST00000303372.5:c.670_674dupACGAC	12.37:g.124171488_124171492dupACGAC	ENSP00000304941:p.Thr224fs					TCTN2_ENST00000426174.2_Frame_Shift_Ins_p.D223fs	p.D224fs	NM_001143850.2|NM_024809.4	NP_001137322.1|NP_079085.2	Q96GX1	TECT2_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000163)|Epithelial(86;0.000502)|all cancers(50;0.00451)	6	797_798	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		224					A8K7Y8|B3KPW5|Q9H966	Frame_Shift_Ins	INS	ENST00000303372.5	37	c.669_670insACGAC	CCDS9253.1																																																																																				0.525	TCTN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000400652.1	NM_024809		7	798						7	798	---	---	---	---	ACGAC	124171488	-	ACGAC	124171487	7	5	19	1	0	1	1	0	0	0	0	0	15720	1045	37	0	691	0	TCTN2	12	124171487	Frame_Shift_Ins	INS	-	TCGA-CH-5745-01A-11D-1576-08	108439631	124171487	9680408	37	775											
CENPJ	55835	broad.mit.edu	37	chr13	25486853	25486853	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atgccgctacctgtggtcccTttttaatgcaaggaaaggct	9	12	10	10	1	0	0	0	0	0	0	1	1	1	1	3	3	3	3	3	3	4	4			TCGA-CH-5745-01A-11D-1576-08	TCGA-CH-5745-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51db8439-c35f-472e-baf0-8e6e22833c39	e32b30c3-6ed3-42ce-ad17-69b26146f7e4	g.chr13:25486853T>C	ENST00000381884.4	-	2	496	c.311A>G	c.(310-312)aAg>aGg	p.K104R	CENPJ_ENST00000545981.1_Missense_Mutation_p.K104R	NM_018451.4	NP_060921.3	Q9HC77	CENPJ_HUMAN	centromere protein J	104					cell division (GO:0051301)|centriole replication (GO:0007099)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|microtubule polymerization (GO:0046785)|mitotic cell cycle (GO:0000278)|regulation of centriole replication (GO:0046599)	centriole (GO:0005814)|centrosome (GO:0005813)|cytosol (GO:0005829)|gamma-tubulin small complex (GO:0008275)|microtubule (GO:0005874)	protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)|tubulin binding (GO:0015631)			endometrium(5)|kidney(4)|large_intestine(14)|lung(13)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.00793)|Epithelial(112;0.0411)|OV - Ovarian serous cystadenocarcinoma(117;0.139)		CTGTGGTCCCTTTTTAATGCA	0.438																																						ENST00000381884.4																			0				endometrium(5)|kidney(4)|large_intestine(14)|lung(13)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						c.(310-312)aAg>aGg		centromere protein J							184	169	174					13																	25486853		2203	4300	6503	SO:0001583	missense	55835				cell division|centriole replication|G2/M transition of mitotic cell cycle|microtubule nucleation|microtubule polymerization	centriole|cytosol|gamma-tubulin small complex|microtubule	protein domain specific binding|tubulin binding	g.chr13:25486853T>C	AF139625	CCDS9310.1	13q12.12	2013-11-05			ENSG00000151849	ENSG00000151849			17272	protein-coding gene	gene with protein product	"centrosomal P4.1-associated protein"	609279	"microcephaly, primary autosomal recessive 6"	MCPH6		11003675, 22699936	Standard	NM_018451		Approved	CPAP, BM032, LAP, LIP1, Sas-4, SASS4, SCKL4	uc001upt.5	Q9HC77	OTTHUMG00000016595	ENST00000381884.4:c.311A>G	13.37:g.25486853T>C	ENSP00000371308:p.Lys104Arg					CENPJ_ENST00000545981.1_Missense_Mutation_p.K104R	p.K104R	NM_018451.4	NP_060921.3	Q9HC77	CENPJ_HUMAN		all cancers(112;0.00793)|Epithelial(112;0.0411)|OV - Ovarian serous cystadenocarcinoma(117;0.139)	2	496	-		Lung SC(185;0.0225)|Breast(139;0.0602)	104					Q2KHM6|Q5JPD5|Q5T6R5|Q96KS5|Q9C067	Missense_Mutation	SNP	ENST00000381884.4	37	c.311A>G	CCDS9310.1	.	.	.	.	.	.	.	.	.	.	T	3.034	-0.199094	0.06219	.	.	ENSG00000151849	ENST00000381884;ENST00000545981;ENST00000445729	T;T	0.18810	2.19;2.19	5.63	-0.0823	0.13698	.	1.383910	0.04132	N	0.318094	T	0.14917	0.0360	L	0.29908	0.895	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.26155	-1.0111	10	0.26408	T	0.33	.	5.158	0.15046	0.0:0.1578:0.2869:0.5553	.	104	Q9HC77	CENPJ_HUMAN	R	104	ENSP00000371308:K104R;ENSP00000441090:K104R	ENSP00000371308:K104R	K	-	2	0	CENPJ	24384853	0.000000	0.05858	0.001000	0.08648	0.030000	0.12068	-0.053000	0.11846	0.066000	0.16515	0.533000	0.62120	AAG		0.438	CENPJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044209.1	NM_018451		5	306	0	0	0	1	0	5	306					C	25486853	T	C	25486853	3	2	19	1	0	0	0	0	1	0	0	0	3234	1609	56	4	3769	4	CENPJ	13	25486853	Missense_Mutation	SNP	T	TCGA-CH-5745-01A-11D-1576-08		25486853	89683025	38	776											
NBEA	26960	broad.mit.edu	37	chr13	36158143	36158143	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ataatacccattattcaacaGcaacatctactttatcctgg	14	13	3	11	0	2	0	1	0	1	0	3	0	3	0	2	1	5	1	2	1	7	7			TCGA-CH-5745-01A-11D-1576-08	TCGA-CH-5745-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51db8439-c35f-472e-baf0-8e6e22833c39	e32b30c3-6ed3-42ce-ad17-69b26146f7e4	g.chr13:36158143G>A	ENST00000400445.3	+	46	7678	c.7144G>A	c.(7144-7146)Gca>Aca	p.A2382T	NBEA_ENST00000537702.1_Missense_Mutation_p.A175T|NBEA_ENST00000379939.2_Missense_Mutation_p.A2379T|NBEA_ENST00000540320.1_Missense_Mutation_p.A2382T|NBEA_ENST00000310336.4_Missense_Mutation_p.A2382T	NM_015678.4	NP_056493.3	Q8NFP9	NBEA_HUMAN	neurobeachin	2382	BEACH. {ECO:0000255|PROSITE- ProRule:PRU00026, ECO:0000305}.				protein localization (GO:0008104)	cytosol (GO:0005829)|endomembrane system (GO:0012505)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)				NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		TTATTCAACAGCAACATCTAC	0.363																																						ENST00000540320.1																			0				NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108						c.(7144-7146)Gca>Aca		neurobeachin							212	212	212					13																	36158143		1866	4105	5971	SO:0001583	missense	26960					cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding	g.chr13:36158143G>A	AF467288	CCDS45026.1, CCDS55894.1	13q13	2014-09-17			ENSG00000172915	ENSG00000172915		"A-kinase anchor proteins", "WD repeat domain containing"	7648	protein-coding gene	gene with protein product		604889				10501977	Standard	NM_015678		Approved	KIAA1544, BCL8B, FLJ10197	uc021ric.1	Q8NFP9	OTTHUMG00000016724	ENST00000400445.3:c.7144G>A	13.37:g.36158143G>A	ENSP00000383295:p.Ala2382Thr					NBEA_ENST00000400445.3_Missense_Mutation_p.A2382T|NBEA_ENST00000379939.2_Missense_Mutation_p.A2379T|NBEA_ENST00000310336.4_Missense_Mutation_p.A2382T|NBEA_ENST00000537702.1_Missense_Mutation_p.A175T	p.A2382T			Q8NFP9	NBEA_HUMAN		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)	46	7678	+		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)	2382			BEACH.		B7Z2H9|Q5T320|Q9HCM8|Q9NSU1|Q9NW98|Q9Y6J1	Missense_Mutation	SNP	ENST00000400445.3	37	c.7144G>A	CCDS45026.1	.	.	.	.	.	.	.	.	.	.	G	16.68	3.190335	0.58017	.	.	ENSG00000172915	ENST00000540320;ENST00000400445;ENST00000379939;ENST00000310336;ENST00000422518;ENST00000543274;ENST00000537702	T;T;T;T;T	0.80653	-1.4;-1.4;-1.4;-1.4;-1.4	5.74	2.74	0.32292	BEACH domain (4);	0.267655	0.43260	D	0.000581	D	0.88640	0.6491	M	0.92691	3.335	0.32299	N	0.565284	P;D	0.54397	0.831;0.966	P;P	0.54140	0.657;0.743	D	0.91986	0.5599	10	0.72032	D	0.01	.	13.4572	0.61206	0.0:0.0:0.4746:0.5254	.	2382;2379	Q8NFP9;Q5T321	NBEA_HUMAN;.	T	2382;2382;2379;2382;1009;175;175	ENSP00000440951:A2382T;ENSP00000383295:A2382T;ENSP00000369271:A2379T;ENSP00000308534:A2382T;ENSP00000440233:A175T	ENSP00000308534:A2382T	A	+	1	0	NBEA	35056143	0.996000	0.38824	0.090000	0.20809	0.535000	0.34838	2.424000	0.44714	1.395000	0.46643	0.650000	0.86243	GCA		0.363	NBEA-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_015678		5	344	0	0	0	1	0	5	344					A	36158143	G	A	36158143	3	1	19	1	0	0	0	0	1	0	0	0	10187	971	34	3	7326	3	NBEA	13	36158143	Missense_Mutation	SNP	G	TCGA-CH-5745-01A-11D-1576-08	10671290	36158143	79011735	39	777											
CCNA1	8900	broad.mit.edu	37	chr13	37006834	37006834	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gagaagagtatctcagctggGaaggaccggggctcccagat	11	6	15	9	1	1	3	1	0	1	3	3	6	2	5	2	4	1	3	2	4	3	1			TCGA-CH-5745-01A-11D-1576-08	TCGA-CH-5745-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51db8439-c35f-472e-baf0-8e6e22833c39	e32b30c3-6ed3-42ce-ad17-69b26146f7e4	g.chr13:37006834G>A	ENST00000255465.4	+	1	340	c.76G>A	c.(76-78)Gaa>Aaa	p.E26K	CCNA1_ENST00000449823.1_Intron|CCNA1_ENST00000440264.1_Intron|CCNA1_ENST00000463403.1_Intron|CCNA1_ENST00000418263.1_Missense_Mutation_p.E26K			P78396	CCNA1_HUMAN	cyclin A1	26					G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|male meiosis I (GO:0007141)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|spermatogenesis (GO:0007283)	cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)|nucleoplasm (GO:0005654)		p.E26K(1)		breast(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(2)|urinary_tract(1)	35		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.91e-07)|Epithelial(112;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0119)|GBM - Glioblastoma multiforme(144;0.0242)		TCTCAGCTGGGAAGGACCGGG	0.552																																						ENST00000418263.1																			1	Substitution - Missense(1)	p.E26K(1)	prostate(1)	breast(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(2)|urinary_tract(1)	35						c.(76-78)Gaa>Aaa		cyclin A1							49	51	50					13																	37006834		2203	4300	6503	SO:0001583	missense	8900				cell division|G2/M transition of mitotic cell cycle|male meiosis I|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|spermatogenesis	cytosol|microtubule cytoskeleton|nucleoplasm	protein kinase binding	g.chr13:37006834G>A	U66838	CCDS9357.1, CCDS45031.1	13q12.3-q13	2014-01-21			ENSG00000133101	ENSG00000133101			1577	protein-coding gene	gene with protein product		604036				9041194	Standard	NM_003914		Approved	CT146	uc001uvr.4	P78396	OTTHUMG00000016733	ENST00000255465.4:c.76G>A	13.37:g.37006834G>A	ENSP00000255465:p.Glu26Lys					CCNA1_ENST00000449823.1_Intron|CCNA1_ENST00000440264.1_Intron|CCNA1_ENST00000463403.1_Intron|CCNA1_ENST00000255465.4_Missense_Mutation_p.E26K	p.E26K	NM_001111045.1|NM_003914.3	NP_001104515.1|NP_003905.1	P78396	CCNA1_HUMAN	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.91e-07)|Epithelial(112;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0119)|GBM - Glioblastoma multiforme(144;0.0242)	1	426	+		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	26					B7Z7E3|Q5T3V0|Q5U0G2|Q8IY91	Missense_Mutation	SNP	ENST00000255465.4	37	c.76G>A	CCDS9357.1	.	.	.	.	.	.	.	.	.	.	G	11.78	1.741877	0.30865	.	.	ENSG00000133101	ENST00000418263;ENST00000255465	T;T	0.17370	2.28;2.29	3.31	1.49	0.22878	.	.	.	.	.	T	0.07863	0.0197	N	0.08118	0	0.09310	N	1	B;B	0.19200	0.034;0.02	B;B	0.16722	0.016;0.004	T	0.33752	-0.9856	9	0.42905	T	0.14	.	4.4874	0.11797	0.1328:0.2319:0.6353:0.0	.	26;26	P78396-2;P78396	.;CCNA1_HUMAN	K	26	ENSP00000396479:E26K;ENSP00000255465:E26K	ENSP00000255465:E26K	E	+	1	0	CCNA1	35904834	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.170000	0.09897	0.209000	0.20645	0.561000	0.74099	GAA		0.552	CCNA1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000044514.2	NM_003914		11	41	0	0	0	1	0	11	41					A	37006834	G	A	37006834	3	1	19	1	0	0	0	0	1	0	0	0	2909	1175	41	3	78	3	CCNA1	13	37006834	Missense_Mutation	SNP	G	TCGA-CH-5745-01A-11D-1576-08	848691	37006834	78163044	40	778											
GOLGA5	9950	broad.mit.edu	37	chr14	93264023	93264023	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagccaccatcttagctggcActgcaaatgtgaaagtagga	14	8	10	9	0	1	1	0	1	1	0	1	2	1	2	2	2	3	4	2	2	5	2			TCGA-CH-5745-01A-11D-1576-08	TCGA-CH-5745-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51db8439-c35f-472e-baf0-8e6e22833c39	e32b30c3-6ed3-42ce-ad17-69b26146f7e4	g.chr14:93264023A>C	ENST00000163416.2	+	2	497	c.241A>C	c.(241-243)Act>Cct	p.T81P	GOLGA5_ENST00000355976.2_Missense_Mutation_p.T81P	NM_005113.2	NP_005104	Q8TBA6	GOGA5_HUMAN	golgin A5	81					Golgi organization (GO:0007030)|Golgi vesicle transport (GO:0048193)	cis-Golgi network (GO:0005801)|Golgi apparatus (GO:0005794)|Golgi cisterna (GO:0031985)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	protein homodimerization activity (GO:0042803)|Rab GTPase binding (GO:0017137)	p.T81P(1)		large_intestine(6)|lung(1)|ovary(2)	9		all_cancers(154;0.0934)		COAD - Colon adenocarcinoma(157;0.222)		CTTAGCTGGCACTGCAAATGT	0.413			T	RET	papillary thyroid																																	ENST00000163416.2				Dom	yes		14	14q	9950	T	"golgi autoantigen, golgin subfamily a, 5  (PTC5)"			E	RET		papillary thyroid		1	Substitution - Missense(1)	p.T81P(1)	prostate(1)	large_intestine(6)|lung(1)|ovary(2)	9						c.(241-243)Act>Cct		golgin A5							112	108	109					14																	93264023		2203	4300	6503	SO:0001583	missense	9950				Golgi organization	cis-Golgi network|integral to membrane	ATP binding|protein homodimerization activity|protein tyrosine kinase activity|Rab GTPase binding	g.chr14:93264023A>C	AF085199	CCDS9905.1	14q32.12	2012-05-04	2010-02-12		ENSG00000066455	ENSG00000066455			4428	protein-coding gene	gene with protein product	"golgi integral membrane protein 5"	606918	"golgi autoantigen, golgin subfamily a, 5"			2734021, 9443391, 15004235	Standard	NM_005113		Approved	ret-II, golgin-84, rfg5, GOLIM5	uc001yaz.1	Q8TBA6	OTTHUMG00000171217	ENST00000163416.2:c.241A>C	14.37:g.93264023A>C	ENSP00000163416:p.Thr81Pro					GOLGA5_ENST00000355976.2_Missense_Mutation_p.T81P	p.T81P	NM_005113.2	NP_005104.2	Q8TBA6	GOGA5_HUMAN		COAD - Colon adenocarcinoma(157;0.222)	2	497	+		all_cancers(154;0.0934)	81					C9JRU1|O95287|Q03962|Q2TS49|Q9UQQ7	Missense_Mutation	SNP	ENST00000163416.2	37	c.241A>C	CCDS9905.1	.	.	.	.	.	.	.	.	.	.	A	23.3	4.404860	0.83230	.	.	ENSG00000066455	ENST00000163416;ENST00000355976	T;T	0.38401	1.14;1.14	5.65	5.65	0.86999	.	0.000000	0.50627	D	0.000113	T	0.52338	0.1728	M	0.67953	2.075	0.80722	D	1	D	0.61697	0.99	P	0.54815	0.761	T	0.55661	-0.8106	10	0.62326	D	0.03	-21.4466	16.1778	0.81874	1.0:0.0:0.0:0.0	.	81	Q8TBA6	GOGA5_HUMAN	P	81	ENSP00000163416:T81P;ENSP00000348252:T81P	ENSP00000163416:T81P	T	+	1	0	GOLGA5	92333776	1.000000	0.71417	0.994000	0.49952	0.997000	0.91878	6.214000	0.72200	2.279000	0.76181	0.533000	0.62120	ACT		0.413	GOLGA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412365.1			10	175	0	0	0	1	0	10	175					C	93264023	A	C	93264023	3	2	19	1	0	0	0	0	1	0	0	0	6556	159	6	5	243	5	GOLGA5	14	93264023	Missense_Mutation	SNP	A	TCGA-CH-5745-01A-11D-1576-08		93264023	14085517	41	779											
AHNAK2	113146	broad.mit.edu	37	chr14	105414189	105414189	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggtcagcggaagggggctgAatgctgaggtcagtggcctt	8	8	18	7	1	2	2	2	2	0	0	2	3	2	3	1	6	2	2	1	6	2	1	rs533925213	byFrequency	TCGA-CH-5745-01A-11D-1576-08	TCGA-CH-5745-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51db8439-c35f-472e-baf0-8e6e22833c39	e32b30c3-6ed3-42ce-ad17-69b26146f7e4	g.chr14:105414189A>T	ENST00000333244.5	-	7	7718	c.7599T>A	c.(7597-7599)atT>atA	p.I2533I	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	2533						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			AAGGGGGCTGAATGCTGAGGT	0.667													.|||	3	0.000599042	8e-04	0.0029	5008	,	,		16754	0		0	False		,,,				2504	0					ENST00000333244.5																			0				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33						c.(7597-7599)atT>atA		AHNAK nucleoprotein 2							114	128	124					14																	105414189		1911	4107	6018	SO:0001819	synonymous_variant	113146					nucleus		g.chr14:105414189A>T	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"chromosome 14 open reading frame 78"	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.7599T>A	14.37:g.105414189A>T						AHNAK2_ENST00000557457.1_Intron	p.I2533I	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)		7	7718	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	2533					Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Silent	SNP	ENST00000333244.5	37	c.7599T>A	CCDS45177.1																																																																																				0.667	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		6	343	0	0	0	1	0	6	343					T	105414189	A	T	105414189	2	4	19	1	0	0	0	0	0	0	0	1	415	242	9	5		5	AHNAK2	14	105414189	Silent	SNP	A	TCGA-CH-5745-01A-11D-1576-08	12150166	105414189	1935351	42	780											
INO80	54617	broad.mit.edu	37	chr15	41384239	41384239	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcttacctccttgtctttacTatacttattttggtgaagtt	7	21	5	8	0	2	1	0	1	2	0	3	1	3	1	2	1	3	1	2	1	6	10			TCGA-CH-5745-01A-11D-1576-08	TCGA-CH-5745-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51db8439-c35f-472e-baf0-8e6e22833c39	e32b30c3-6ed3-42ce-ad17-69b26146f7e4	g.chr15:41384239T>G	ENST00000361937.3	-	5	947	c.523A>C	c.(523-525)Agt>Cgt	p.S175R	INO80_ENST00000401393.3_Missense_Mutation_p.S175R			Q9ULG1	INO80_HUMAN	INO80 complex subunit	175	Assembles INO80 complex module with putative regulatory components INO80E, INO80F, UCHL5, NFRKB, MCRS1 and IN80D.				ATP catabolic process (GO:0006200)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|chromatin remodeling (GO:0006338)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|mitotic sister chromatid segregation (GO:0000070)|positive regulation of cell growth (GO:0030307)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of G1/S transition of mitotic cell cycle (GO:2000045)|spindle assembly (GO:0051225)|UV-damage excision repair (GO:0070914)	Ino80 complex (GO:0031011)|microtubule (GO:0005874)|nucleus (GO:0005634)	alpha-tubulin binding (GO:0043014)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)	p.S175R(2)		NS(1)|breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						TTGTCTTTACTATACTTATTT	0.373																																						ENST00000361937.3																			2	Substitution - Missense(2)	p.S175R(2)	prostate(2)	NS(1)|breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						c.(523-525)Agt>Cgt		INO80 complex subunit							175	173	174					15																	41384239		2203	4299	6502	SO:0001583	missense	54617				cell division|cellular response to ionizing radiation|cellular response to UV|chromatin remodeling|double-strand break repair via homologous recombination|mitotic sister chromatid segregation|positive regulation of cell growth|positive regulation of DNA replication involved in S phase|positive regulation of transcription from RNA polymerase II promoter|regulation of G1/S transition of mitotic cell cycle|spindle assembly|UV-damage excision repair	Ino80 complex|microtubule	actin binding|alpha-tubulin binding|ATP binding|ATPase activity|DNA binding|DNA helicase activity	g.chr15:41384239T>G	AB033085	CCDS10071.1	15q15.1	2013-08-21	2013-08-21	2008-08-07	ENSG00000128908	ENSG00000128908	3.6.1.3	"INO80 complex subunits"	26956	protein-coding gene	gene with protein product	"INO80 complex subunit A"	610169	"INO80 complex homolog 1 (S. cerevisiae)", "INO80 homolog (S. cerevisiae)"	INOC1		16298340, 16230350, 20237820	Standard	NM_017553		Approved	KIAA1259, Ino80, hINO80, INO80A	uc001zni.3	Q9ULG1	OTTHUMG00000130209	ENST00000361937.3:c.523A>C	15.37:g.41384239T>G	ENSP00000355205:p.Ser175Arg					INO80_ENST00000401393.3_Missense_Mutation_p.S175R	p.S175R			Q9ULG1	INO80_HUMAN			5	947	-			175			Assembles INO80 complex module with putative regulatory components INO80E, INO80F, UCHL5, NFRKB, MCRS1 and IN80D.		A6H8X4|Q9NTG6	Missense_Mutation	SNP	ENST00000361937.3	37	c.523A>C	CCDS10071.1	.	.	.	.	.	.	.	.	.	.	T	10.94	1.492916	0.26774	.	.	ENSG00000128908	ENST00000361937;ENST00000401393	D;D	0.90676	-2.71;-2.71	5.28	5.28	0.74379	.	0.139415	0.64402	D	0.000003	T	0.81607	0.4858	N	0.19112	0.55	0.32789	N	0.501386	B	0.29432	0.244	B	0.21917	0.037	T	0.82250	-0.0550	10	0.27785	T	0.31	.	11.3783	0.49741	0.0:0.0:0.1513:0.8487	.	175	Q9ULG1	INO80_HUMAN	R	175	ENSP00000355205:S175R;ENSP00000384686:S175R	ENSP00000355205:S175R	S	-	1	0	INO80	39171531	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.631000	0.54280	2.222000	0.72286	0.374000	0.22700	AGT		0.373	INO80-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252527.2	NM_017553		57	184	0	0	0	1	0	57	184					G	41384239	T	G	41384239	3	3	19	1	0	0	0	0	1	0	0	0	7746	1522	53	5	4275	5	INO80	15	41384239	Missense_Mutation	SNP	T	TCGA-CH-5745-01A-11D-1576-08		41384239	61147153	43	781											
PARP16	54956	broad.mit.edu	37	chr15	65559013	65559013	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttggtctcataaaatttggCgttggctgggtcaaagtact	9	15	11	6	1	2	0	2	0	1	0	3	0	2	0	0	4	1	3	0	4	4	5			TCGA-CH-5745-01A-11D-1576-08	TCGA-CH-5745-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51db8439-c35f-472e-baf0-8e6e22833c39	e32b30c3-6ed3-42ce-ad17-69b26146f7e4	g.chr15:65559013C>T	ENST00000261888.6	-	3	851	c.406G>A	c.(406-408)Gcc>Acc	p.A136T	PARP16_ENST00000444347.2_Intron|PARP16_ENST00000558873.1_5'UTR	NM_017851.4	NP_060321.3	Q8N5Y8	PAR16_HUMAN	poly (ADP-ribose) polymerase family, member 16	136	PARP catalytic. {ECO:0000255|PROSITE- ProRule:PRU00397}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of cell death (GO:0060548)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|protein ADP-ribosylation (GO:0006471)|protein auto-ADP-ribosylation (GO:0070213)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum tubular network (GO:0071782)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear envelope (GO:0005635)	kinase binding (GO:0019900)|NAD(P)+-protein-arginine ADP-ribosyltransferase activity (GO:0003956)|NAD+ ADP-ribosyltransferase activity (GO:0003950)|protein serine/threonine kinase activator activity (GO:0043539)	p.A136T(1)		kidney(1)|large_intestine(1)|lung(5)|prostate(1)|skin(1)	9						TAAAATTTGGCGTTGGCTGGG	0.458																																					NSCLC(50;885 1163 13509 21242 41978)	ENST00000261888.6																			1	Substitution - Missense(1)	p.A136T(1)	prostate(1)	kidney(1)|large_intestine(1)|lung(5)|prostate(1)|skin(1)	9						c.(406-408)Gcc>Acc		poly (ADP-ribose) polymerase family, member 16							132	121	125					15																	65559013		2201	4299	6500	SO:0001583	missense	54956					integral to membrane	NAD+ ADP-ribosyltransferase activity	g.chr15:65559013C>T	AK000516	CCDS10204.1	15q22.2	2010-02-16	2004-08-25	2004-08-25	ENSG00000138617	ENSG00000138617		"Poly (ADP-ribose) polymerases"	26040	protein-coding gene	gene with protein product			"chromosome 15 open reading frame 30"	C15orf30		15273990	Standard	NM_017851		Approved	FLJ20509, FLJ25281, pART15	uc002aoq.3	Q8N5Y8	OTTHUMG00000133138	ENST00000261888.6:c.406G>A	15.37:g.65559013C>T	ENSP00000261888:p.Ala136Thr					PARP16_ENST00000444347.2_Intron|PARP16_ENST00000558873.1_5'UTR	p.A136T	NM_017851.4	NP_060321.3	Q8N5Y8	PAR16_HUMAN			3	851	-			136			PARP catalytic.		Q6PK64|Q9NX03	Missense_Mutation	SNP	ENST00000261888.6	37	c.406G>A	CCDS10204.1	.	.	.	.	.	.	.	.	.	.	C	15.30	2.792235	0.50102	.	.	ENSG00000138617	ENST00000261888	T	0.13657	2.57	5.58	3.69	0.42338	Poly(ADP-ribose) polymerase, catalytic domain (2);	0.160845	0.53938	N	0.000041	T	0.14787	0.0357	M	0.69823	2.125	0.80722	D	1	B;B	0.15473	0.011;0.013	B;B	0.17098	0.01;0.017	T	0.05649	-1.0872	10	0.19147	T	0.46	-13.0677	7.9807	0.30181	0.1312:0.7265:0.0:0.1423	.	136;136	Q8N5Y8-3;Q8N5Y8	.;PAR16_HUMAN	T	136	ENSP00000261888:A136T	ENSP00000261888:A136T	A	-	1	0	PARP16	63346066	0.301000	0.24444	0.882000	0.34594	0.986000	0.74619	0.755000	0.26405	0.706000	0.31912	0.462000	0.41574	GCC		0.458	PARP16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256827.2	NM_017851		4	86	0	0	0	1	0	4	86					T	65559013	C	T	65559013	3	4	19	1	0	0	0	0	1	0	0	0	11460	768	27	1	581	1	PARP16	15	65559013	Missense_Mutation	SNP	C	TCGA-CH-5745-01A-11D-1576-08	24174774	65559013	36972379	44	782											
TXNDC11	51061	broad.mit.edu	37	chr16	11785489	11785489	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acaccttgttcagagtcgatGaagcctgacacacccctgct	10	9	8	14	1	1	3	1	2	0	1	2	4	1	3	4	0	2	2	4	0	1	2			TCGA-CH-5745-01A-11D-1576-08	TCGA-CH-5745-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51db8439-c35f-472e-baf0-8e6e22833c39	e32b30c3-6ed3-42ce-ad17-69b26146f7e4	g.chr16:11785489G>A	ENST00000356957.3	-	9	1745	c.1638C>T	c.(1636-1638)ttC>ttT	p.F546F	TXNDC11_ENST00000570917.1_5'Flank|TXNDC11_ENST00000283033.5_Silent_p.F519F			Q6PKC3	TXD11_HUMAN	thioredoxin domain containing 11	546					cell redox homeostasis (GO:0045454)|protein folding (GO:0006457)|response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	protein disulfide isomerase activity (GO:0003756)	p.F519F(1)		endometrium(3)|large_intestine(5)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	21						CAGAGTCGATGAAGCCTGACA	0.468																																						ENST00000356957.3																			1	Substitution - coding silent(1)	p.F519F(1)	prostate(1)	endometrium(3)|large_intestine(5)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	21						c.(1636-1638)ttC>ttT		thioredoxin domain containing 11							122	112	115					16																	11785489		2197	4300	6497	SO:0001819	synonymous_variant	51061				cell redox homeostasis	endoplasmic reticulum membrane|integral to membrane		g.chr16:11785489G>A	BC013727	CCDS32387.1	16p13.13	2008-09-29				ENSG00000153066			28030	protein-coding gene	gene with protein product	"EF-hand binding protein 1"					8619474, 9110174	Standard	XM_005255346		Approved	EFP1	uc002dbg.1	Q6PKC3		ENST00000356957.3:c.1638C>T	16.37:g.11785489G>A						TXNDC11_ENST00000283033.5_Silent_p.F519F	p.F546F			Q6PKC3	TXD11_HUMAN			9	1745	-			546					O95887|Q6PJA6|Q8N2Q4|Q96K45|Q96K53	Silent	SNP	ENST00000356957.3	37	c.1638C>T																																																																																					0.468	TXNDC11-002	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000437057.1	NM_015914		98	205	0	0	0	1	0	98	205					A	11785489	G	A	11785489	2	1	19	1	0	0	0	0	0	0	0	1	16789	1281	45	3		3	TXNDC11	16	11785489	Silent	SNP	G	TCGA-CH-5745-01A-11D-1576-08		11785489	78569264	45	783											
VWA3A	146177	broad.mit.edu	37	chr16	22120821	22120821	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aggcatttggcctcatcaaaGgggccagagtcagcatcctc	10	8	11	12	0	3	1	3	0	0	1	5	1	4	1	3	4	1	2	3	4	1	1			TCGA-CH-5745-01A-11D-1576-08	TCGA-CH-5745-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51db8439-c35f-472e-baf0-8e6e22833c39	e32b30c3-6ed3-42ce-ad17-69b26146f7e4	g.chr16:22120821G>A	ENST00000389398.5	+	7	598	c.502G>A	c.(502-504)Ggg>Agg	p.G168R	VWA3A_ENST00000389397.4_5'UTR	NM_173615.3	NP_775886.3	A6NCI4	VWA3A_HUMAN	von Willebrand factor A domain containing 3A	168						extracellular region (GO:0005576)		p.G168R(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(1)|skin(1)	7				GBM - Glioblastoma multiforme(48;0.0439)		CCTCATCAAAGGGGCCAGAGT	0.512																																						ENST00000389398.5																			1	Substitution - Missense(1)	p.G168R(1)	prostate(1)	haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(1)|skin(1)	7						c.(502-504)Ggg>Agg		von Willebrand factor A domain containing 3A							101	86	90					16																	22120821		692	1591	2283	SO:0001583	missense	146177					extracellular region		g.chr16:22120821G>A	AK128606, AK098260	CCDS45441.1	16p12.1	2008-02-05				ENSG00000175267			27088	protein-coding gene	gene with protein product						12477932	Standard	XM_006721021		Approved	FLJ46765, FLJ40941	uc010vbq.2	A6NCI4		ENST00000389398.5:c.502G>A	16.37:g.22120821G>A	ENSP00000374049:p.Gly168Arg					VWA3A_ENST00000389397.4_5'UTR	p.G168R	NM_173615.3	NP_775886.3	A6NCI4	VWA3A_HUMAN		GBM - Glioblastoma multiforme(48;0.0439)	7	598	+			168					A4QMU8|A6NNC0|Q6UTX4|Q6ZQZ9|Q8IUY6|Q8N9W1	Missense_Mutation	SNP	ENST00000389398.5	37	c.502G>A	CCDS45441.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.249792	0.80024	.	.	ENSG00000175267	ENST00000310694;ENST00000389398	T	0.14640	2.49	5.29	5.29	0.74685	.	0.000000	0.64402	D	0.000020	T	0.36771	0.0979	M	0.64404	1.975	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.06734	-1.0810	10	0.72032	D	0.01	.	17.5529	0.87881	0.0:0.0:1.0:0.0	.	168	A6NCI4	VWA3A_HUMAN	R	68;168	ENSP00000374049:G168R	ENSP00000308827:G68R	G	+	1	0	VWA3A	22028322	1.000000	0.71417	0.999000	0.59377	0.824000	0.46624	5.398000	0.66308	2.481000	0.83766	0.650000	0.86243	GGG		0.512	VWA3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430052.1			9	16	0	0	0	1	0	9	16					A	22120821	G	A	22120821	3	1	19	1	0	0	0	0	1	0	0	0	17237	1000	35	3	528	3	VWA3A	16	22120821	Missense_Mutation	SNP	G	TCGA-CH-5745-01A-11D-1576-08	10335332	22120821	68233932	46	784											
KIAA0556	23247	broad.mit.edu	37	chr16	27782957	27782957	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agcatggactacgaggcaccGctgatgccctgtggctgtat	8	9	13	11	2	0	1	0	1	0	0	0	3	0	2	2	3	3	5	2	3	2	2	rs202124589		TCGA-CH-5745-01A-11D-1576-08	TCGA-CH-5745-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51db8439-c35f-472e-baf0-8e6e22833c39	e32b30c3-6ed3-42ce-ad17-69b26146f7e4	g.chr16:27782957G>A	ENST00000261588.4	+	22	4201	c.4182G>A	c.(4180-4182)ccG>ccA	p.P1394P		NM_015202.2	NP_056017.2	O60303	K0556_HUMAN	KIAA0556	1394						extracellular space (GO:0005615)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.P1394P(4)		breast(4)|endometrium(7)|kidney(8)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	76						ACGAGGCACCGCTGATGCCCT	0.607													G|||	1	0.000199681	0	0	5008	,	,		18869	0.001		0	False		,,,				2504	0					ENST00000261588.4																			4	Substitution - coding silent(4)	p.P1394P(4)	large_intestine(2)|prostate(2)	breast(4)|endometrium(7)|kidney(8)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	76						c.(4180-4182)ccG>ccA		KIAA0556							161	126	138					16																	27782957		2197	4300	6497	SO:0001819	synonymous_variant	23247							g.chr16:27782957G>A	AB011128	CCDS32415.1	16p12.1-p11.2	2012-11-30			ENSG00000047578	ENSG00000047578			29068	protein-coding gene	gene with protein product						9628581	Standard	NM_015202		Approved		uc002dow.3	O60303	OTTHUMG00000176780	ENST00000261588.4:c.4182G>A	16.37:g.27782957G>A							p.P1394P	NM_015202.2	NP_056017.2	O60303	K0556_HUMAN			22	4201	+			1394					A7E2C2	Silent	SNP	ENST00000261588.4	37	c.4182G>A	CCDS32415.1																																																																																				0.607	KIAA0556-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433724.1	NM_015202		7	134	0	0	0	1	0	7	134					A	27782957	G	A	27782957	2	1	19	1	0	0	0	0	0	0	0	1	8183	1074	38	1		1	KIAA0556	16	27782957	Silent	SNP	G	TCGA-CH-5745-01A-11D-1576-08	5662136	27782957	62571796	47	785											
MYH2	4620	broad.mit.edu	37	chr17	10430104	10430104	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgcagggcatgcgccagggcGttcttggcctatggaggcag	6	8	17	10	2	1	0	0	0	1	0	1	1	1	1	2	5	2	4	2	5	1	3			TCGA-CH-5745-01A-11D-1576-08	TCGA-CH-5745-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51db8439-c35f-472e-baf0-8e6e22833c39	e32b30c3-6ed3-42ce-ad17-69b26146f7e4	g.chr17:10430104G>A	ENST00000245503.5	-	30	4383	c.3999C>T	c.(3997-3999)aaC>aaT	p.N1333N	MYH2_ENST00000397183.2_Silent_p.N1333N|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA|MYH2_ENST00000532183.2_Intron	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	1333					Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|plasma membrane repair (GO:0001778)|response to activity (GO:0014823)	A band (GO:0031672)|actomyosin contractile ring (GO:0005826)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|protein complex (GO:0043234)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)	p.N1333N(1)		NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						GCGCCAGGGCGTTCTTGGCCT	0.498																																						ENST00000245503.5																			1	Substitution - coding silent(1)	p.N1333N(1)	prostate(1)	NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						c.(3997-3999)aaC>aaT		myosin, heavy chain 2, skeletal muscle, adult							80	78	79					17																	10430104		2203	4300	6503	SO:0001819	synonymous_variant	4620				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr17:10430104G>A		CCDS11156.1	17p13.1	2014-02-04	2006-09-29		ENSG00000125414	ENSG00000125414		"Myosins / Myosin superfamily : Class II"	7572	protein-coding gene	gene with protein product		160740	"myosin, heavy polypeptide 2, skeletal muscle, adult", "inclusion body myopathy 3, autosomal dominant"	IBM3		7545970, 11889243	Standard	NM_001100112		Approved	MYH2A, MYHSA2, MyHC-IIa, MYHas8, MyHC-2A	uc010coi.3	Q9UKX2	OTTHUMG00000130363	ENST00000245503.5:c.3999C>T	17.37:g.10430104G>A						CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|MYH2_ENST00000532183.1_Intron|MYH2_ENST00000397183.2_Silent_p.N1333N	p.N1333N	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN			30	4383	-			1333					A0AVL4|Q14322|Q16229|Q567P6|Q86T56	Silent	SNP	ENST00000245503.5	37	c.3999C>T	CCDS11156.1																																																																																				0.498	MYH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252726.3	NM_017534		5	151	0	0	0	1	0	5	151					A	10430104	G	A	10430104	2	1	19	1	0	0	0	0	0	0	0	1	10035	1136	40	1		1	MYH2	17	10430104	Silent	SNP	G	TCGA-CH-5745-01A-11D-1576-08		10430104	70765106	48	786											
PGAP3	93210	broad.mit.edu	37	chr17	37830251	37830251	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cccaggcaggctcacctgacGcagcacaggtagattgagtg	10	6	13	12	1	1	3	1	2	0	1	1	3	1	3	2	3	1	5	2	3	1	2	rs147768703	byFrequency	TCGA-CH-5745-01A-11D-1576-08	TCGA-CH-5745-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51db8439-c35f-472e-baf0-8e6e22833c39	e32b30c3-6ed3-42ce-ad17-69b26146f7e4	g.chr17:37830251G>A	ENST00000300658.4	-	5	644	c.552C>T	c.(550-552)tgC>tgT	p.C184C	PGAP3_ENST00000429199.2_Silent_p.C163C|PGAP3_ENST00000378011.4_Silent_p.C133C|PGAP3_ENST00000579146.1_Intron	NM_033419.3	NP_219487.3	Q96FM1	PGAP3_HUMAN	post-GPI attachment to proteins 3	184					GPI anchor biosynthetic process (GO:0006506)|GPI anchor metabolic process (GO:0006505)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)	hydrolase activity, acting on ester bonds (GO:0016788)	p.C184C(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	12						CTCACCTGACGCAGCACAGGT	0.587													G|||	2	0.000399361	0	0.0014	5008	,	,		19262	0.001		0	False		,,,				2504	0					ENST00000300658.4																			1	Substitution - coding silent(1)	p.C184C(1)	prostate(1)	breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	12						c.(550-552)tgC>tgT		post-GPI attachment to proteins 3		G		0,4406		0,0,2203	109	90	96		552	-3	1	17	dbSNP_134	96	12,8588	9.1+/-34.3	0,12,4288	no	coding-synonymous	PGAP3	NM_033419.3		0,12,6491	AA,AG,GG		0.1395,0.0,0.0923		184/321	37830251	12,12994	2203	4300	6503	SO:0001819	synonymous_variant	93210				GPI anchor biosynthetic process	Golgi membrane|integral to membrane|intrinsic to endoplasmic reticulum membrane	hydrolase activity, acting on ester bonds	g.chr17:37830251G>A	AB088396	CCDS32641.1	17q21.2	2009-06-02	2009-06-02	2009-06-02		ENSG00000161395			23719	protein-coding gene	gene with protein product	"post-GPI attachment to proteins 3"	611801	"per1-like domain containing 1"	PERLD1		15010812, 17021251, 17314402	Standard	NM_001291728		Approved	MGC9753, CAB2, PP1498, PER1	uc002hsj.3	Q96FM1		ENST00000300658.4:c.552C>T	17.37:g.37830251G>A						PGAP3_ENST00000429199.2_Silent_p.C163C|PGAP3_ENST00000579146.1_Intron|PGAP3_ENST00000378011.4_Silent_p.C133C	p.C184C	NM_033419.3	NP_219487.3	Q96FM1	PGAP3_HUMAN			5	644	-			184					B4DGK7|Q86Z03|Q8NBJ8	Silent	SNP	ENST00000300658.4	37	c.552C>T	CCDS32641.1																																																																																				0.587	PGAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444825.2	NM_033419		20	36	0	0	0	1	0	20	36					A	37830251	G	A	37830251	2	1	19	1	0	0	0	0	0	0	0	1	11779	1079	38	1		1	PGAP3	17	37830251	Silent	SNP	G	TCGA-CH-5745-01A-11D-1576-08	27400147	37830251	43364959	49	787											
WNK4	65266	broad.mit.edu	37	chr17	40934857	40934857	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctgcagcaccccaacatcGtccgcttctatgattcgtgg	7	10	10	14	3	1	1	0	1	1	0	4	1	2	1	3	2	3	4	3	2	2	3			TCGA-CH-5745-01A-11D-1576-08	TCGA-CH-5745-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51db8439-c35f-472e-baf0-8e6e22833c39	e32b30c3-6ed3-42ce-ad17-69b26146f7e4	g.chr17:40934857G>A	ENST00000246914.5	+	2	721	c.700G>A	c.(700-702)Gtc>Atc	p.V234I		NM_032387.4	NP_115763.2	Q96J92	WNK4_HUMAN	WNK lysine deficient protein kinase 4	234	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				chloride transport (GO:0006821)|distal tubule morphogenesis (GO:0072156)|intracellular signal transduction (GO:0035556)|ion homeostasis (GO:0050801)|ion transport (GO:0006811)|negative regulation of pancreatic juice secretion (GO:0090188)|protein localization (GO:0008104)|protein phosphorylation (GO:0006468)|regulation of cellular process (GO:0050794)|renal sodium ion absorption (GO:0070294)	cytoplasm (GO:0005737)|tight junction (GO:0005923)	ATP binding (GO:0005524)|chloride channel inhibitor activity (GO:0019869)|protein serine/threonine kinase activity (GO:0004674)	p.V234I(2)|p.V222I(1)		NS(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|prostate(1)|skin(5)|stomach(1)	35		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.0749)		CCCCAACATCGTCCGCTTCTA	0.602																																					Esophageal Squamous(6;201 374 4964 23855 42828)	ENST00000246914.5																			3	Substitution - Missense(3)	p.V234I(2)|p.V222I(1)	prostate(3)	NS(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|prostate(1)|skin(5)|stomach(1)	35						c.(700-702)Gtc>Atc		WNK lysine deficient protein kinase 4							105	91	96					17																	40934857		2203	4300	6503	SO:0001583	missense	65266				intracellular protein kinase cascade	tight junction	ATP binding|protein serine/threonine kinase activity	g.chr17:40934857G>A	AJ309861	CCDS11439.1	17q21-q22	2005-01-19	2005-01-19	2005-01-19		ENSG00000126562			14544	protein-coding gene	gene with protein product		601844	"protein kinase, lysine deficient 4"	PRKWNK4			Standard	NM_032387		Approved		uc002ibj.3	Q96J92		ENST00000246914.5:c.700G>A	17.37:g.40934857G>A	ENSP00000246914:p.Val234Ile						p.V234I	NM_032387.4	NP_115763.2	Q96J92	WNK4_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.0749)	2	721	+		Breast(137;0.000143)	234			Protein kinase.		B0LPI0|Q8N8X3|Q8N8Z2|Q96DT8|Q9BYS5	Missense_Mutation	SNP	ENST00000246914.5	37	c.700G>A	CCDS11439.1	.	.	.	.	.	.	.	.	.	.	G	29.9	5.042143	0.93685	.	.	ENSG00000126562	ENST00000246914	T	0.35421	1.31	3.97	3.97	0.46021	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.390131	0.18502	N	0.139314	T	0.48857	0.1523	L	0.33485	1.01	0.42555	D	0.993123	D	0.71674	0.998	D	0.69307	0.963	T	0.54807	-0.8238	10	0.72032	D	0.01	-6.6437	16.2013	0.82084	0.0:0.0:1.0:0.0	.	234	Q96J92	WNK4_HUMAN	I	234	ENSP00000246914:V234I	ENSP00000246914:V234I	V	+	1	0	WNK4	38188383	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	9.616000	0.98359	2.045000	0.60652	0.462000	0.41574	GTC		0.602	WNK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452389.1			24	60	0	0	0	1	0	24	60					A	40934857	G	A	40934857	3	1	19	1	0	0	0	0	1	0	0	0	17377	1145	40	1	706	1	WNK4	17	40934857	Missense_Mutation	SNP	G	TCGA-CH-5745-01A-11D-1576-08	3104606	40934857	40260353	50	788											
NMT1	4836	broad.mit.edu	37	chr17	43138780	43138780	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agggaacgggaacggccatgAgcactgcagcgattgcgaga	12	4	16	9	4	0	2	0	1	0	1	0	6	0	4	1	3	6	2	1	3	2	1			TCGA-CH-5745-01A-11D-1576-08	TCGA-CH-5745-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51db8439-c35f-472e-baf0-8e6e22833c39	e32b30c3-6ed3-42ce-ad17-69b26146f7e4	g.chr17:43138780A>T	ENST00000592782.1	+	2	214	c.83A>T	c.(82-84)gAg>gTg	p.E28V	DCAKD_ENST00000342350.5_5'Flank|NMT1_ENST00000258960.2_Missense_Mutation_p.E28V|DCAKD_ENST00000310604.4_5'Flank|NMT1_ENST00000590114.1_3'UTR			P30419	NMT1_HUMAN	N-myristoyltransferase 1	28					apoptotic process (GO:0006915)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|N-terminal protein myristoylation (GO:0006499)|phototransduction, visible light (GO:0007603)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|protein lipoylation (GO:0009249)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|viral process (GO:0016032)	actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	catalytic activity (GO:0003824)|glycylpeptide N-tetradecanoyltransferase activity (GO:0004379)	p.E28V(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)	8		Prostate(33;0.155)				AACGGCCATGAGCACTGCAGC	0.602																																						ENST00000592782.1																			1	Substitution - Missense(1)	p.E28V(1)	prostate(1)	breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)	8						c.(82-84)gAg>gTg		N-myristoyltransferase 1							79	65	69					17																	43138780		2203	4300	6503	SO:0001583	missense	4836				activation of pro-apoptotic gene products|induction of apoptosis by intracellular signals|N-terminal protein myristoylation|protein lipoylation	actin cytoskeleton|cell junction|cytosol	glycylpeptide N-tetradecanoyltransferase activity	g.chr17:43138780A>T		CCDS11494.1	17q21.31	2012-10-02			ENSG00000136448	ENSG00000136448			7857	protein-coding gene	gene with protein product	"alternative, short form NMT-S", "myristoyl-CoA:protein N-myristoyltransferase", "long form, NMT-L"	160993				1570339	Standard	NM_021079		Approved	NMT	uc002ihz.3	P30419	OTTHUMG00000180003	ENST00000592782.1:c.83A>T	17.37:g.43138780A>T	ENSP00000468424:p.Glu28Val					NMT1_ENST00000258960.2_Missense_Mutation_p.E28V|NMT1_ENST00000590114.1_3'UTR	p.E28V			P30419	NMT1_HUMAN			2	214	+		Prostate(33;0.155)	28					A8K7C1|Q9UE09	Missense_Mutation	SNP	ENST00000592782.1	37	c.83A>T	CCDS11494.1	.	.	.	.	.	.	.	.	.	.	A	17.45	3.391600	0.62066	.	.	ENSG00000136448	ENST00000258960;ENST00000543908	T;T	0.51071	0.82;0.72	5.93	5.93	0.95920	.	0.210315	0.49916	D	0.000136	T	0.28566	0.0707	N	0.08118	0	0.35717	D	0.816855	B	0.16396	0.017	B	0.13407	0.009	T	0.30794	-0.9966	10	0.66056	D	0.02	-13.7864	10.4216	0.44354	0.9272:0.0:0.0728:0.0	.	28	P30419	NMT1_HUMAN	V	28	ENSP00000258960:E28V;ENSP00000439263:E28V	ENSP00000258960:E28V	E	+	2	0	NMT1	40494306	1.000000	0.71417	0.981000	0.43875	0.983000	0.72400	2.666000	0.46799	2.281000	0.76405	0.533000	0.62120	GAG		0.602	NMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449239.1	NM_021079		3	36	0	0	0	1	0	3	36					T	43138780	A	T	43138780	3	4	19	1	0	0	0	0	1	0	0	0	10503	304	11	5	85	5	NMT1	17	43138780	Missense_Mutation	SNP	A	TCGA-CH-5745-01A-11D-1576-08	2203923	43138780	38056430	51	789											
LRRC8E	80131	broad.mit.edu	37	chr19	7964266	7964266	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcagtttcctggtggcctgtAgggtggagacgtcagaggtc	6	11	16	8	1	2	2	2	0	0	2	4	3	3	2	2	5	0	2	2	5	1	2			TCGA-CH-5745-01A-11D-1576-08	TCGA-CH-5745-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51db8439-c35f-472e-baf0-8e6e22833c39	e32b30c3-6ed3-42ce-ad17-69b26146f7e4	g.chr19:7964266A>C	ENST00000306708.6	+	3	960	c.859A>C	c.(859-861)Agg>Cgg	p.R287R	RN7SL115P_ENST00000392196.5_RNA|AC010336.1_ENST00000539278.1_3'UTR	NM_001268284.1|NM_001268285.1|NM_025061.4	NP_001255213.1|NP_001255214.1|NP_079337.2	Q6NSJ5	LRC8E_HUMAN	leucine rich repeat containing 8 family, member E	287					ion transport (GO:0006811)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(10)	35						GGTGGCCTGTAGGGTGGAGAC	0.542																																						ENST00000306708.6																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(10)	35						c.(859-861)Agg>Cgg		leucine rich repeat containing 8 family, member E							123	102	109					19																	7964266		2203	4300	6503	SO:0001819	synonymous_variant	80131					integral to membrane		g.chr19:7964266A>C		CCDS12189.1	19p13.2	2008-02-05				ENSG00000171017			26272	protein-coding gene	gene with protein product		612891				12477932	Standard	NM_025061		Approved	FLJ23420	uc002mir.3	Q6NSJ5		ENST00000306708.6:c.859A>C	19.37:g.7964266A>C						AC010336.1_ENST00000539278.1_3'UTR	p.R287R	NM_001268284.1|NM_001268285.1|NM_025061.4	NP_001255213.1|NP_001255214.1|NP_079337.2	Q6NSJ5	LRC8E_HUMAN			3	960	+			287					B3KR78|Q2YDY3|Q7L236|Q8N3B0|Q9H5H8	Silent	SNP	ENST00000306708.6	37	c.859A>C	CCDS12189.1																																																																																				0.542	LRRC8E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461354.1	NM_025061		3	93	0	0	0	1	0	3	93					C	7964266	A	C	7964266	2	2	19	1	0	0	0	0	0	0	0	1	9025	411	15	5		5	LRRC8E	19	7964266	Silent	SNP	A	TCGA-CH-5745-01A-11D-1576-08		7964266	51164717	52	790											
SLC1A6	6511	broad.mit.edu	37	chr19	15067354	15067354	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caatgaaggggaaggggttcCggtgagtgacgaggaagtag	12	6	19	4	2	0	3	0	3	0	0	1	6	1	5	1	6	0	2	1	6	5	2	rs188504788	byFrequency	TCGA-CH-5745-01A-11D-1576-08	TCGA-CH-5745-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51db8439-c35f-472e-baf0-8e6e22833c39	e32b30c3-6ed3-42ce-ad17-69b26146f7e4	g.chr19:15067354C>T	ENST00000221742.3	-	6	1110	c.1103G>A	c.(1102-1104)cGg>cAg	p.R368Q	SLC1A6_ENST00000600144.1_Intron|SLC1A6_ENST00000430939.2_Missense_Mutation_p.R304Q	NM_005071.1	NP_005062.1	P48664	EAA4_HUMAN	solute carrier family 1 (high affinity aspartate/glutamate transporter), member 6	368					aspartate transport (GO:0015810)|ion transport (GO:0006811)|L-glutamate transport (GO:0015813)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	L-aspartate transmembrane transporter activity (GO:0015183)|L-glutamate transmembrane transporter activity (GO:0005313)|sodium:dicarboxylate symporter activity (GO:0017153)	p.R368Q(1)		breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(8)|liver(1)|lung(12)|ovary(3)|pancreas(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42						GAAGGGGTTCCGGTGAGTGAC	0.607													N|||	3	0.000599042	0	0	5008	,	,		20247	0		0.003	False		,,,				2504	0					ENST00000430939.2																			1	Substitution - Missense(1)	p.R368Q(1)	prostate(1)	breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(8)|liver(1)|lung(12)|ovary(3)|pancreas(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42						c.(910-912)cGg>cAg		solute carrier family 1 (high affinity aspartate/glutamate transporter), member 6	L-Glutamic Acid(DB00142)						164	126	139					19																	15067354		2203	4300	6503	SO:0001583	missense	6511				synaptic transmission	integral to plasma membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|L-aspartate transmembrane transporter activity|sodium:dicarboxylate symporter activity	g.chr19:15067354C>T		CCDS12321.1, CCDS62578.1	19p13.12	2013-07-15			ENSG00000105143	ENSG00000105143		"Solute carriers"	10944	protein-coding gene	gene with protein product		600637				7791878	Standard	NM_005071		Approved	EAAT4	uc002naa.2	P48664	OTTHUMG00000183351	ENST00000221742.3:c.1103G>A	19.37:g.15067354C>T	ENSP00000221742:p.Arg368Gln					SLC1A6_ENST00000600144.1_Intron|SLC1A6_ENST00000221742.3_Missense_Mutation_p.R368Q	p.R304Q			P48664	EAA4_HUMAN			6	1040	-			368					Q8N753	Missense_Mutation	SNP	ENST00000221742.3	37	c.911G>A	CCDS12321.1	3	0.0013736263736263737	0	0.0	0	0.0	0	0.0	3	0.00395778364116095	c	17.34	3.365056	0.61513	.	.	ENSG00000105143	ENST00000430939;ENST00000221742	T;T	0.59364	0.27;0.27	3.96	2.92	0.33932	.	0.217737	0.46442	D	0.000300	T	0.45216	0.1331	L	0.41710	1.295	0.80722	D	1	P;B	0.36282	0.546;0.169	B;B	0.38803	0.282;0.017	T	0.50127	-0.8864	10	0.72032	D	0.01	-12.7596	5.41	0.16342	0.0:0.7728:0.0:0.2272	.	304;368	E7EV13;P48664	.;EAA4_HUMAN	Q	304;368	ENSP00000409386:R304Q;ENSP00000221742:R368Q	ENSP00000221742:R368Q	R	-	2	0	SLC1A6	14928354	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	3.110000	0.50352	2.225000	0.72522	0.591000	0.81541	CGG		0.607	SLC1A6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466283.1	NM_005071		3	59	0	0	0	1	0	3	59					T	15067354	C	T	15067354	3	4	19	1	0	0	0	0	1	0	0	0	14436	652	23	2	607	2	SLC1A6	19	15067354	Missense_Mutation	SNP	C	TCGA-CH-5745-01A-11D-1576-08	7103088	15067354	44061629	53	791											
BANF2	140836	broad.mit.edu	37	chr20	17705710	17705710	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggctgagagccttcctctccGaacccattggagaaaaggat	11	8	11	11	1	1	2	0	1	1	2	3	6	2	3	4	3	2	1	4	3	3	2	rs375278663		TCGA-CH-5745-01A-11D-1576-08	TCGA-CH-5745-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51db8439-c35f-472e-baf0-8e6e22833c39	e32b30c3-6ed3-42ce-ad17-69b26146f7e4	g.chr20:17705710G>A	ENST00000246090.5	+	3	302	c.40G>A	c.(40-42)Gaa>Aaa	p.E14K	BANF2_ENST00000377805.3_Missense_Mutation_p.E14K|BANF2_ENST00000545418.2_Missense_Mutation_p.E21K	NM_178477.4	NP_848572.3	Q9H503	BAFL_HUMAN	barrier to autointegration factor 2	14						cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.E14K(1)		large_intestine(1)|lung(1)|prostate(3)|skin(1)	6						CTTCCTCTCCGAACCCATTGG	0.502																																						ENST00000246090.5																			1	Substitution - Missense(1)	p.E14K(1)	prostate(1)	large_intestine(1)|lung(1)|prostate(3)|skin(1)	6						c.(40-42)Gaa>Aaa		barrier to autointegration factor 2							157	139	145					20																	17705710		2203	4300	6503	SO:0001583	missense	140836					cytoplasm|nucleus	DNA binding	g.chr20:17705710G>A	BC054871	CCDS13129.1, CCDS54449.1	20p12.1	2007-12-17	2007-12-17	2007-12-17	ENSG00000125888	ENSG00000125888			16172	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 179"	C20orf179			Standard	NM_178477		Approved	dJ803K15.1, BAF-L, BAFL, BAF2	uc010zrs.1	Q9H503	OTTHUMG00000031949	ENST00000246090.5:c.40G>A	20.37:g.17705710G>A	ENSP00000246090:p.Glu14Lys					BANF2_ENST00000377805.3_Missense_Mutation_p.E14K|BANF2_ENST00000545418.2_Missense_Mutation_p.E21K	p.E14K	NM_178477.4	NP_848572.3	Q9H503	BAFL_HUMAN			3	302	+			14					D3DW25|F5H3F6|Q7Z4M6	Missense_Mutation	SNP	ENST00000246090.5	37	c.40G>A	CCDS13129.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.944015	0.73672	.	.	ENSG00000125888	ENST00000545418;ENST00000427254;ENST00000377805;ENST00000246090	T;T;T;T	0.66280	-0.2;-0.2;-0.2;-0.2	5.05	4.01	0.46588	.	0.000000	0.64402	D	0.000009	T	0.75583	0.3869	.	.	.	0.37140	D	0.901685	D;D	0.89917	1.0;1.0	D;D	0.72338	0.962;0.977	T	0.80412	-0.1393	9	0.87932	D	0	.	10.7237	0.46055	0.0:0.1928:0.8072:0.0	.	21;14	F5H3F6;Q9H503	.;BAFL_HUMAN	K	21;14;14;14	ENSP00000439128:E21K;ENSP00000398738:E14K;ENSP00000367036:E14K;ENSP00000246090:E14K	ENSP00000246090:E14K	E	+	1	0	BANF2	17653710	0.994000	0.37717	0.989000	0.46669	0.467000	0.32768	2.760000	0.47581	2.704000	0.92352	0.655000	0.94253	GAA		0.502	BANF2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102261.2	NM_178477		42	161	0	0	0	1	0	42	161					A	17705710	G	A	17705710	3	1	19	1	0	0	0	0	1	0	0	0	1308	1059	37	2	67	2	BANF2	20	17705710	Missense_Mutation	SNP	G	TCGA-CH-5745-01A-11D-1576-08		17705710	45319810	54	792											
TSSK2	23617	broad.mit.edu	37	chr22	19119550	19119550	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gtacatcatggtctgcggctCcatgccctatgacgactccg	7	10	10	14	3	2	1	1	1	1	0	4	2	4	1	3	2	3	2	3	2	2	2			TCGA-CH-5745-01A-11D-1576-08	TCGA-CH-5745-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51db8439-c35f-472e-baf0-8e6e22833c39	e32b30c3-6ed3-42ce-ad17-69b26146f7e4	g.chr22:19119550C>A	ENST00000399635.2	+	1	1230	c.638C>A	c.(637-639)tCc>tAc	p.S213Y	DGCR14_ENST00000252137.6_3'UTR	NM_053006.4	NP_443732.3	Q96PF2	TSSK2_HUMAN	testis-specific serine kinase 2	213	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				multicellular organismal development (GO:0007275)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|spermatid development (GO:0007286)	acrosomal vesicle (GO:0001669)|centriole (GO:0005814)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)	p.S213Y(2)		endometrium(2)|large_intestine(2)|lung(2)|prostate(4)|stomach(1)	11	Colorectal(54;0.0993)					GTCTGCGGCTCCATGCCCTAT	0.592																																						ENST00000399635.2																			2	Substitution - Missense(2)	p.S213Y(2)	prostate(2)	endometrium(2)|large_intestine(2)|lung(2)|prostate(4)|stomach(1)	11						c.(637-639)tCc>tAc		testis-specific serine kinase 2							97	91	93					22																	19119550		2203	4300	6503	SO:0001583	missense	23617				cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity	g.chr22:19119550C>A	AF362953	CCDS13755.1	22q11.21	2007-01-30	2005-03-10	2005-03-12	ENSG00000206203	ENSG00000206203			11401	protein-coding gene	gene with protein product		610710	"serine/threonine kinase 22B (spermiogenesis associated)"	STK22B		10591208	Standard	NM_053006		Approved	SPOGA2, FLJ38613	uc002zow.2	Q96PF2	OTTHUMG00000150118	ENST00000399635.2:c.638C>A	22.37:g.19119550C>A	ENSP00000382544:p.Ser213Tyr					DGCR14_ENST00000252137.6_3'UTR	p.S213Y	NM_053006.4	NP_443732.3	Q96PF2	TSSK2_HUMAN			1	1230	+	Colorectal(54;0.0993)		213			Protein kinase.		Q8IY55	Missense_Mutation	SNP	ENST00000399635.2	37	c.638C>A	CCDS13755.1	.	.	.	.	.	.	.	.	.	.	C	13.07	2.126644	0.37533	.	.	ENSG00000206203	ENST00000399635	T	0.66460	-0.21	5.29	4.25	0.50352	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.137828	0.33364	N	0.004995	T	0.43964	0.1271	N	0.02916	-0.46	0.32591	N	0.527201	B	0.17667	0.023	B	0.21546	0.035	T	0.53479	-0.8433	10	0.62326	D	0.03	.	12.9918	0.58622	0.0:0.8373:0.1627:0.0	.	213	Q96PF2	TSSK2_HUMAN	Y	213	ENSP00000382544:S213Y	ENSP00000382544:S213Y	S	+	2	0	TSSK2	17499550	0.003000	0.15002	1.000000	0.80357	0.962000	0.63368	0.393000	0.20817	1.179000	0.42884	0.655000	0.94253	TCC		0.592	TSSK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316431.1			87	144	1	0	4.47867e-22	1	5.26066e-22	87	144					A	19119550	C	A	19119550	3	1	19	1	0	0	0	0	1	0	0	0	16666	855	30	5	640	5	TSSK2	22	19119550	Missense_Mutation	SNP	C	TCGA-CH-5745-01A-11D-1576-08		19119550	32185016	55	793											
BCORL1	63035	broad.mit.edu	37	chrX	129155089	129155089	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agccgacaaagccggagtccCagtctccaggaaaacgagcc	13	3	11	14	3	1	0	0	0	1	0	3	4	2	2	5	2	4	0	5	2	3	0			TCGA-CH-5745-01A-11D-1576-08	TCGA-CH-5745-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51db8439-c35f-472e-baf0-8e6e22833c39	e32b30c3-6ed3-42ce-ad17-69b26146f7e4	g.chrX:129155089C>A	ENST00000218147.7	+	5	3768	c.3571C>A	c.(3571-3573)Cag>Aag	p.Q1191K	BCORL1_ENST00000303743.5_Missense_Mutation_p.Q1191K|BCORL1_ENST00000540052.1_Missense_Mutation_p.Q1191K|BCORL1_ENST00000359304.2_Missense_Mutation_p.Q1191K			Q5H9F3	BCORL_HUMAN	BCL6 corepressor-like 1	1191					chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.Q1191K(1)		breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						GCCGGAGTCCCAGTCTCCAGG	0.622																																						ENST00000540052.1																			1	Substitution - Missense(1)	p.Q1191K(1)	prostate(1)	breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						c.(3571-3573)Cag>Aag		BCL6 corepressor-like 1							34	35	35					X																	129155089		2200	4299	6499	SO:0001583	missense	63035				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus		g.chrX:129155089C>A	AL136450	CCDS14616.1	Xq25-q26.1	2014-09-17	2010-06-10		ENSG00000085185	ENSG00000085185		"Ankyrin repeat domain containing"	25657	protein-coding gene	gene with protein product		300688	"chromosome X open reading frame 10", "BCL6 co-repressor-like 1"	CXorf10			Standard	NM_021946		Approved	FLJ11362	uc022cdu.1	Q5H9F3	OTTHUMG00000022379	ENST00000218147.7:c.3571C>A	X.37:g.129155089C>A	ENSP00000218147:p.Gln1191Lys					BCORL1_ENST00000359304.2_Missense_Mutation_p.Q1191K|BCORL1_ENST00000218147.7_Missense_Mutation_p.Q1191K|BCORL1_ENST00000303743.5_Missense_Mutation_p.Q1191K	p.Q1191K	NM_021946.4	NP_068765.3	Q5H9F3	BCORL_HUMAN			4	3615	+			1191					B5MDQ8|Q5H9F2|Q5H9F4|Q6ZVE0|Q8TEN3|Q9Y528	Missense_Mutation	SNP	ENST00000218147.7	37	c.3571C>A	CCDS14616.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.24|19.24	3.789600|3.789600	0.70337|0.70337	.|.	.|.	ENSG00000085185|ENSG00000085185	ENST00000441294|ENST00000218147;ENST00000303743;ENST00000359304;ENST00000540052;ENST00000456822	.|T;T;T;T;T	.|0.39592	.|1.07;1.43;1.07;1.07;1.5	6.17|6.17	6.17|6.17	0.99709|0.99709	.|.	.|0.239409	.|0.21703	.|N	.|0.070381	T|T	0.36386|0.36386	0.0965|0.0965	L|L	0.27053|0.27053	0.805|0.805	0.28758|0.28758	N|N	0.901059|0.901059	.|P;B	.|0.52692	.|0.955;0.41	.|P;B	.|0.47162	.|0.54;0.096	T|T	0.20472|0.20472	-1.0274|-1.0274	5|10	.|0.10111	.|T	.|0.7	-6.6112|-6.6112	16.7455|16.7455	0.85470|0.85470	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|1191;1191	.|Q5H9F3-2;Q5H9F3	.|.;BCORL_HUMAN	Q|K	626|1191;1191;1191;1191;791	.|ENSP00000218147:Q1191K;ENSP00000307541:Q1191K;ENSP00000352253:Q1191K;ENSP00000437775:Q1191K;ENSP00000399483:Q791K	.|ENSP00000218147:Q1191K	P|Q	+|+	2|1	0|0	BCORL1|BCORL1	128982770|128982770	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.991000|0.991000	0.79684|0.79684	2.168000|2.168000	0.42424|0.42424	2.618000|2.618000	0.88619|0.88619	0.600000|0.600000	0.82982|0.82982	CCA|CAG		0.622	BCORL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058223.1	NM_021946		3	23	1	0	1	1	1	3	23					A	129155089	C	A	129155089	3	1	19	1	0	0	0	0	1	0	0	0	1387	595	21	5	3585	5	BCORL1	23	129155089	Missense_Mutation	SNP	C	TCGA-CH-5745-01A-11D-1576-08		129155089	26115471	56	794											
ZNF683	257101	broad.mit.edu	37	chr1	26691329	26691329	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agctcattgaccatcatcagCaggctaggcatagccatggt	11	9	10	11	0	3	1	3	1	0	0	3	1	3	1	2	3	3	4	2	3	2	3			TCGA-CH-5746-01A-11D-1576-08	TCGA-CH-5746-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96a30919-cafe-43b9-9f46-226a8a38d246	040ca048-b608-4268-968c-2d436e9293cd	g.chr1:26691329C>A	ENST00000436292.1	-	4	828	c.708G>T	c.(706-708)ctG>ctT	p.L236L	ZNF683_ENST00000403843.1_Silent_p.L236L|ZNF683_ENST00000349618.3_Silent_p.L236L|ZNF683_ENST00000374204.1_Silent_p.L236L			Q8IZ20	ZN683_HUMAN	zinc finger protein 683	236					natural killer cell differentiation (GO:0001779)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.L236L(1)|p.L221L(1)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(1)	15		all_cancers(24;2.39e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.76e-26)|Colorectal(126;1.38e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|BRCA - Breast invasive adenocarcinoma(304;0.00099)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00793)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.159)|LUSC - Lung squamous cell carcinoma(448;0.233)		CCATCATCAGCAGGCTAGGCA	0.632																																						ENST00000436292.1																			2	Substitution - coding silent(2)	p.L236L(1)|p.L221L(1)	prostate(2)	NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(1)	15						c.(706-708)ctG>ctT		zinc finger protein 683							53	58	57					1																	26691329		2203	4300	6503	SO:0001819	synonymous_variant	257101				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:26691329C>A	BC029505	CCDS279.2	1p36.11	2013-01-08			ENSG00000176083	ENSG00000176083		"Zinc fingers, C2H2-type"	28495	protein-coding gene	gene with protein product	"hypothetical protein MGC33414"					12477932	Standard	NM_173574		Approved	MGC33414	uc009vsj.1	Q8IZ20	OTTHUMG00000003521	ENST00000436292.1:c.708G>T	1.37:g.26691329C>A						ZNF683_ENST00000349618.3_Silent_p.L236L|ZNF683_ENST00000403843.1_Silent_p.L236L|ZNF683_ENST00000374204.1_Silent_p.L236L	p.L236L			Q8IZ20	ZN683_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.76e-26)|Colorectal(126;1.38e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|BRCA - Breast invasive adenocarcinoma(304;0.00099)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00793)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.159)|LUSC - Lung squamous cell carcinoma(448;0.233)	4	828	-		all_cancers(24;2.39e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	236					Q5T141|Q5T146|Q5T147|Q5T149|Q8NEN4	Silent	SNP	ENST00000436292.1	37	c.708G>T		.	.	.	.	.	.	.	.	.	.	C	2.518	-0.311364	0.05422	.	.	ENSG00000176083	ENST00000374203	.	.	.	4.74	1.79	0.24919	.	.	.	.	.	T	0.41073	0.1143	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.35500	-0.9786	5	0.87932	D	0	-0.1957	6.9614	0.24599	0.0:0.7038:0.0:0.2962	.	.	.	.	F	168	.	ENSP00000363319:C168F	C	-	2	0	ZNF683	26563916	0.382000	0.25148	0.009000	0.14445	0.016000	0.09150	0.091000	0.15046	0.619000	0.30197	-0.258000	0.10820	TGC		0.632	ZNF683-202	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000009794.2	NM_173574		13	119	1	0	0.000422831	1	0.000502827	13	119					A	26691329	C	A	26691329	2	1	20	1	0	0	0	0	0	0	0	1	18087	697	25	5		5	ZNF683	1	26691329	Silent	SNP	C	TCGA-CH-5746-01A-11D-1576-08		26691329	222559292	1	795											
COL9A2	1298	broad.mit.edu	37	chr1	40769637	40769637	+	Frame_Shift_Del	DEL	G	G	-																															cggggaggccggccacccctGggtcaccctgcagagagaac																										TCGA-CH-5746-01A-11D-1576-08	TCGA-CH-5746-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96a30919-cafe-43b9-9f46-226a8a38d246	040ca048-b608-4268-968c-2d436e9293cd	g.chr1:40769637delG	ENST00000372748.3	-	26	1427	c.1331delC	c.(1330-1332)ccafs	p.P444fs	COL9A2_ENST00000466267.1_5'UTR	NM_001852.3	NP_001843.1	Q14055	CO9A2_HUMAN	collagen, type IX, alpha 2	444	Triple-helical region 3 (COL3).				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	collagen type IX trimer (GO:0005594)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(4)|stomach(2)|urinary_tract(2)	22	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;2.08e-17)			GGCCACCCCTGGGTCACCCTG	0.736																																						ENST00000372748.3																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(4)|stomach(2)|urinary_tract(2)	22						c.(1330-1332)cafs		collagen, type IX, alpha 2							10	13	12					1																	40769637		2150	4198	6348	SO:0001589	frameshift_variant	1298				axon guidance|skeletal system development	collagen type IX		g.chr1:40769637delG	M95610	CCDS450.1	1p33-p32	2013-01-16			ENSG00000049089	ENSG00000049089		"Proteoglycans / Extracellular Matrix : Collagen proteoglycans", "Collagens"	2218	protein-coding gene	gene with protein product		120260		EDM2		8454052, 8528240, 1429648	Standard	NM_001852		Approved	MED	uc001cfh.1	Q14055	OTTHUMG00000005761	ENST00000372748.3:c.1331delC	1.37:g.40769637delG	ENSP00000361834:p.Pro444fs					COL9A2_ENST00000466267.1_5'UTR	p.P444fs	NM_001852.3	NP_001843.1	Q14055	CO9A2_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;2.08e-17)		26	1427	-	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	444			Triple-helical region 3 (COL3).		B2RMP9	Frame_Shift_Del	DEL	ENST00000372748.3	37	c.1331delC	CCDS450.1																																																																																				0.736	COL9A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000015764.3	NM_001852		2	4						2	4	---	---	---	---	-	40769637	G	-	40769637	7	5	20	1	0	1	0	1	0	0	0	0	3708	1348	47	0	766	0	COL9A2	1	40769637	Frame_Shift_Del	DEL	G	TCGA-CH-5746-01A-11D-1576-08	14078308	40769637	208480984	2	796											
SFRS11	9295	broad.mit.edu	37	chr1	70687370	70687371	+	Frame_Shift_Ins	INS	-	-	G																															caggtccgggccccagcggcINSgggcccggtggcggaggtgg																										TCGA-CH-5746-01A-11D-1576-08	TCGA-CH-5746-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96a30919-cafe-43b9-9f46-226a8a38d246	040ca048-b608-4268-968c-2d436e9293cd	g.chr1:70687370_70687371insG	ENST00000370950.3	+	2	133_134	c.51_52insG	c.(52-54)gggfs	p.G18fs	SRSF11_ENST00000405432.1_Frame_Shift_Ins_p.G18fs|SRSF11_ENST00000370951.1_Frame_Shift_Ins_p.G18fs|SRSF11_ENST00000454435.2_Frame_Shift_Ins_p.G18fs|SRSF11_ENST00000436161.2_Frame_Shift_Ins_p.G18fs|RP4-677H15.4_ENST00000422107.1_RNA			Q05519	SRS11_HUMAN	serine/arginine-rich splicing factor 11	18	Poly-Gly.				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			large_intestine(3)|ovary(2)|skin(1)	6						GCCCCAGCGGCGGGCCcggtgg	0.649																																						ENST00000370950.3																			0				large_intestine(3)|ovary(2)|skin(1)	6						c.(49-54)ggggccfs		serine/arginine-rich splicing factor 11			,	40,4006		6,28,1989					,	3.3	1			61	39,8013		6,27,3993	no	frameshift,frameshift	SRSF11	NM_004768.3,NM_001190987.1	,	12,55,5982	A1A1,A1R,RR		0.4844,0.9886,0.653	,	,		79,12019				SO:0001589	frameshift_variant	9295				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nucleoplasm	nucleotide binding|protein binding|RNA binding	g.chr1:70687370_70687371insG	M74002	CCDS647.1, CCDS53332.1	1p31.1	2013-02-12	2010-06-22	2010-06-22	ENSG00000116754	ENSG00000116754		"Serine/arginine-rich splicing factors", "RNA binding motif (RRM) containing"	10782	protein-coding gene	gene with protein product	"SR splicing factor 11"	602010	"splicing factor, arginine/serine-rich 11"	SFRS11		1896467, 20516191	Standard	NM_004768		Approved	p54, NET2	uc001des.3	Q05519	OTTHUMG00000009342	ENST00000370950.3:c.54dupG	1.37:g.70687373_70687373dupG	ENSP00000359988:p.Gly18fs					SRSF11_ENST00000370951.1_Frame_Shift_Ins_p.A18fs|SRSF11_ENST00000405432.1_Frame_Shift_Ins_p.A18fs|SRSF11_ENST00000454435.2_Frame_Shift_Ins_p.A18fs|SRSF11_ENST00000436161.2_Frame_Shift_Ins_p.A18fs	p.A18fs			Q05519	SRS11_HUMAN			2	133_134	+			18			Poly-Gly.		Q5T758|Q8IWE6	Frame_Shift_Ins	INS	ENST00000370950.3	37	c.51_52insG	CCDS647.1																																																																																				0.649	SRSF11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000025889.1	NM_004768		7	253						7	253	---	---	---	---	G	70687371	-	G	70687370	7	5	20	1	0	1	1	0	0	0	0	0	14166	755	27	0	53	0	SFRS11	1	70687370	Frame_Shift_Ins	INS	-	TCGA-CH-5746-01A-11D-1576-08	29917733	70687370	178563251	3	797											
CYR61	3491	broad.mit.edu	37	chr1	86048170	86048170	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtattgttcaaacaacttcaTggtcccagtgctcaaagacc	12	11	7	11	0	3	1	3	0	0	1	4	1	4	1	2	1	3	3	2	1	4	4			TCGA-CH-5746-01A-11D-1576-08	TCGA-CH-5746-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96a30919-cafe-43b9-9f46-226a8a38d246	040ca048-b608-4268-968c-2d436e9293cd	g.chr1:86048170T>C	ENST00000451137.2	+	4	930	c.706T>C	c.(706-708)Tgg>Cgg	p.W236R		NM_001554.4	NP_001545.2	O00622	CYR61_HUMAN	cysteine-rich, angiogenic inducer, 61	236	TSP type-1. {ECO:0000255|PROSITE- ProRule:PRU00210}.				anatomical structure morphogenesis (GO:0009653)|apoptotic process involved in heart morphogenesis (GO:0003278)|atrial septum morphogenesis (GO:0060413)|atrioventricular valve morphogenesis (GO:0003181)|cell proliferation (GO:0008283)|chemotaxis (GO:0006935)|chondroblast differentiation (GO:0060591)|chorio-allantoic fusion (GO:0060710)|extracellular matrix organization (GO:0030198)|intussusceptive angiogenesis (GO:0002041)|labyrinthine layer blood vessel development (GO:0060716)|negative regulation of apoptotic process (GO:0043066)|osteoblast differentiation (GO:0001649)|positive regulation of apoptotic process (GO:0043065)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cartilage development (GO:0061036)|positive regulation of cell migration (GO:0030335)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of ceramide biosynthetic process (GO:2000304)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of osteoblast proliferation (GO:0033690)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|reactive oxygen species metabolic process (GO:0072593)|regulation of cell growth (GO:0001558)|regulation of ERK1 and ERK2 cascade (GO:0070372)|ventricular septum development (GO:0003281)|wound healing, spreading of cells (GO:0044319)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)|heparin binding (GO:0008201)	p.W236R(1)		central_nervous_system(1)|endometrium(1)|large_intestine(2)|prostate(1)	5				all cancers(265;0.0216)|Epithelial(280;0.0441)		AACAACTTCATGGTCCCAGTG	0.458											OREG0013583	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000451137.2																			1	Substitution - Missense(1)	p.W236R(1)	prostate(1)	central_nervous_system(1)|endometrium(1)|large_intestine(2)|prostate(1)	5						c.(706-708)Tgg>Cgg		cysteine-rich, angiogenic inducer, 61							88	82	84					1																	86048170		2203	4300	6503	SO:0001583	missense	3491				cell proliferation|chemotaxis|positive regulation of BMP signaling pathway|positive regulation of cell migration|positive regulation of osteoblast differentiation|positive regulation of osteoblast proliferation|positive regulation of protein kinase activity|positive regulation of protein phosphorylation|positive regulation of transcription from RNA polymerase II promoter|regulation of cell growth|regulation of ERK1 and ERK2 cascade|wound healing, spreading of cells	extracellular region	heparin binding|insulin-like growth factor binding	g.chr1:86048170T>C	AF031385	CCDS706.1	1p22.3	2008-02-05			ENSG00000142871	ENSG00000142871			2654	protein-coding gene	gene with protein product		602369		IGFBP10		9135077	Standard	NM_001554		Approved	GIG1, CCN1	uc001dle.3	O00622	OTTHUMG00000010577	ENST00000451137.2:c.706T>C	1.37:g.86048170T>C	ENSP00000398736:p.Trp236Arg		OREG0013583	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1241		p.W236R	NM_001554.4	NP_001545.2	O00622	CYR61_HUMAN		all cancers(265;0.0216)|Epithelial(280;0.0441)	4	930	+			236			TSP type-1.		O14934|O43775|Q9BZL7	Missense_Mutation	SNP	ENST00000451137.2	37	c.706T>C	CCDS706.1	.	.	.	.	.	.	.	.	.	.	T	19.40	3.820020	0.71028	.	.	ENSG00000142871	ENST00000451137;ENST00000536321;ENST00000360431	T	0.77489	-1.1	6.08	6.08	0.98989	.	0.000000	0.85682	D	0.000000	D	0.93187	0.7830	H	0.99404	4.55	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96083	0.9055	10	0.87932	D	0	-23.7684	16.6438	0.85155	0.0:0.0:0.0:1.0	.	236	O00622	CYR61_HUMAN	R	236;212;236	ENSP00000398736:W236R	ENSP00000353612:W236R	W	+	1	0	CYR61	85820758	1.000000	0.71417	0.969000	0.41365	0.957000	0.61999	8.026000	0.88783	2.333000	0.79357	0.533000	0.62120	TGG		0.458	CYR61-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029187.1	NM_001554		13	110	0	0	0	1	0	13	110					C	86048170	T	C	86048170	3	2	20	1	0	0	0	0	1	0	0	0	4199	1464	51	4	720	4	CYR61	1	86048170	Missense_Mutation	SNP	T	TCGA-CH-5746-01A-11D-1576-08	15360800	86048170	163202451	4	798											
HIST3H3	8290	broad.mit.edu	37	chr1	228612642	228612642	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgctccccgcggatacggcGtgccagctggatgtccttag	5	8	13	15	5	0	0	0	0	0	0	2	2	2	2	5	3	3	2	5	3	2	2			TCGA-CH-5746-01A-11D-1576-08	TCGA-CH-5746-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96a30919-cafe-43b9-9f46-226a8a38d246	040ca048-b608-4268-968c-2d436e9293cd	g.chr1:228612642G>A	ENST00000366696.1	-	1	384	c.385C>T	c.(385-387)Cgc>Tgc	p.R129C		NM_003493.2	NP_003484.1	Q16695	H31T_HUMAN	histone cluster 3, H3	129					telomere maintenance (GO:0000723)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.R129C(1)		large_intestine(1)|lung(2)|prostate(2)|skin(1)	6		Prostate(94;0.0724)				CGGATACGGCGTGCCAGCTGG	0.602																																						ENST00000366696.1																			1	Substitution - Missense(1)	p.R129C(1)	prostate(1)	large_intestine(1)|lung(2)|prostate(2)|skin(1)	6						c.(385-387)Cgc>Tgc		histone cluster 3, H3							77	68	71					1																	228612642		2203	4300	6503	SO:0001583	missense	8290				nucleosome assembly|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding	g.chr1:228612642G>A	Z49861	CCDS1572.1	1q42.13	2012-09-19	2006-10-11	2003-02-21	ENSG00000168148	ENSG00000168148		"Histones / Replication-dependent"	4778	protein-coding gene	gene with protein product		602820	"H3 histone family, member T", "histone 3, H3"	H3FT		8834248, 12408966	Standard	NM_003493		Approved	H3t, H3/g, H3.4	uc001hsx.1	Q16695	OTTHUMG00000040044	ENST00000366696.1:c.385C>T	1.37:g.228612642G>A	ENSP00000355657:p.Arg129Cys						p.R129C	NM_003493.2	NP_003484.1	Q16695	H31T_HUMAN			1	384	-		Prostate(94;0.0724)	129					B2R5K3|Q6FGU4	Missense_Mutation	SNP	ENST00000366696.1	37	c.385C>T	CCDS1572.1	.	.	.	.	.	.	.	.	.	.	g	7.073	0.568738	0.13560	.	.	ENSG00000168148	ENST00000366696	T	0.70164	-0.46	3.89	2.98	0.34508	Histone-fold (2);Histone core (1);	0.000000	0.40222	N	0.001160	T	0.68044	0.2958	M	0.90705	3.14	0.54753	D	0.999985	B	0.28439	0.212	B	0.18263	0.021	T	0.71148	-0.4677	10	0.59425	D	0.04	.	9.6576	0.39936	0.1043:0.0:0.8957:0.0	.	129	Q16695	H31T_HUMAN	C	129	ENSP00000355657:R129C	ENSP00000355657:R129C	R	-	1	0	HIST3H3	226679265	1.000000	0.71417	0.118000	0.21660	0.083000	0.17756	3.543000	0.53633	1.202000	0.43218	0.645000	0.84053	CGC		0.602	HIST3H3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096595.2	NM_003493		6	85	0	0	0	1	0	6	85					A	228612642	G	A	228612642	3	1	20	1	0	0	0	0	1	0	0	0	7184	1145	40	1	29	1	HIST3H3	1	228612642	Missense_Mutation	SNP	G	TCGA-CH-5746-01A-11D-1576-08	142564472	228612642	20637979	5	799											
NID1	4811	broad.mit.edu	37	chr1	236228307	236228308	+	Frame_Shift_Ins	INS	-	-	C																															cggctcaggcagcccacaggINSccccgccagcagcagcggca																								rs551401604	byFrequency	TCGA-CH-5746-01A-11D-1576-08	TCGA-CH-5746-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96a30919-cafe-43b9-9f46-226a8a38d246	040ca048-b608-4268-968c-2d436e9293cd	g.chr1:236228307_236228308insC	ENST00000264187.6	-	1	154_155	c.72_73insG	c.(70-75)gggcctfs	p.P25fs	NID1_ENST00000366595.3_Frame_Shift_Ins_p.P25fs	NM_002508.2	NP_002499.2	P14543	NID1_HUMAN	nidogen 1	25					basement membrane organization (GO:0071711)|cell-matrix adhesion (GO:0007160)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glomerular basement membrane development (GO:0032836)|positive regulation of cell-substrate adhesion (GO:0010811)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|cell periphery (GO:0071944)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|laminin binding (GO:0043236)|proteoglycan binding (GO:0043394)			breast(4)|endometrium(9)|kidney(1)|large_intestine(23)|lung(20)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(1)	66	Ovarian(103;0.0544)|Breast(184;0.23)	all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		Urokinase(DB00013)	CAGCCCACAGGCCCCGCCAGCA	0.708																																						ENST00000264187.6																			0				breast(4)|endometrium(9)|kidney(1)|large_intestine(23)|lung(20)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(1)	66						c.(70-75)ggctgtfs		nidogen 1	Becaplermin(DB00102)|Urokinase(DB00013)																																			SO:0001589	frameshift_variant	4811				cell-matrix adhesion	basement membrane	calcium ion binding	g.chr1:236228307_236228308insC	BC045606	CCDS1608.1	1q43	2011-05-08	2005-06-02	2005-06-02	ENSG00000116962	ENSG00000116962			7821	protein-coding gene	gene with protein product		131390	"nidogen (enactin)"	NID		2471408, 7557988	Standard	NM_002508		Approved	entactin	uc001hxo.3	P14543	OTTHUMG00000040071	ENST00000264187.6:c.73dupG	1.37:g.236228311_236228311dupC	ENSP00000264187:p.Pro25fs					NID1_ENST00000366595.3_Frame_Shift_Ins_p.C25fs	p.C25fs	NM_002508.2	NP_002499.2	P14543	NID1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		1	154_155	-	Ovarian(103;0.0544)|Breast(184;0.23)	all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229)	25					Q14942|Q59FL2|Q5TAF2|Q5TAF3|Q86XD7	Frame_Shift_Ins	INS	ENST00000264187.6	37	c.72_73insG	CCDS1608.1																																																																																				0.708	NID1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096647.2	NM_002508		2	4						2	4	---	---	---	---	C	236228308	-	C	236228307	7	5	20	1	0	1	1	0	0	0	0	0	10414	1203	42	0	3750	0	NID1	1	236228307	Frame_Shift_Ins	INS	-	TCGA-CH-5746-01A-11D-1576-08	7615665	236228307	13022314	6	800											
PDK1	5163	broad.mit.edu	37	chr2	173457705	173457705	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatatcacgtctttacgcaCaatacttccaaggagacctg	12	10	6	13	2	2	1	1	0	1	1	3	2	3	1	3	1	2	1	3	1	5	5			TCGA-CH-5746-01A-11D-1576-08	TCGA-CH-5746-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96a30919-cafe-43b9-9f46-226a8a38d246	040ca048-b608-4268-968c-2d436e9293cd	g.chr2:173457705C>A	ENST00000282077.3	+	10	1281	c.1099C>A	c.(1099-1101)Caa>Aaa	p.Q367K	PDK1_ENST00000392571.2_Missense_Mutation_p.Q387K|PDK1_ENST00000544863.1_Missense_Mutation_p.Q212K|PDK1_ENST00000543905.1_Missense_Mutation_p.Q291K|PDK1_ENST00000410055.1_Missense_Mutation_p.Q367K			Q15118	PDK1_HUMAN	pyruvate dehydrogenase kinase, isozyme 1	367	Histidine kinase. {ECO:0000255|PROSITE- ProRule:PRU00107}.				cell proliferation (GO:0008283)|cellular metabolic process (GO:0044237)|glucose metabolic process (GO:0006006)|hypoxia-inducible factor-1alpha signaling pathway (GO:0097411)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|protein phosphorylation (GO:0006468)|pyruvate metabolic process (GO:0006090)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|regulation of glucose metabolic process (GO:0010906)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|pyruvate dehydrogenase (acetyl-transferring) kinase activity (GO:0004740)	p.Q367K(1)		central_nervous_system(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)	16			OV - Ovarian serous cystadenocarcinoma(117;0.12)			TCTTTACGCACAATACTTCCA	0.378									Autosomal Dominant Polycystic Kidney Disease																													ENST00000410055.1																			1	Substitution - Missense(1)	p.Q367K(1)	prostate(1)	central_nervous_system(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)	16						c.(1099-1101)Caa>Aaa		pyruvate dehydrogenase kinase, isozyme 1							141	138	139					2																	173457705		2203	4300	6503	SO:0001583	missense	5163	Autosomal Dominant Polycystic Kidney Disease	Familial Cancer Database	ADPKD	glucose metabolic process|peptidyl-histidine phosphorylation|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate|small GTPase mediated signal transduction	mitochondrial matrix	ATP binding|pyruvate dehydrogenase (acetyl-transferring) kinase activity|two-component sensor activity	g.chr2:173457705C>A	L42450	CCDS2250.1, CCDS63059.1	2q31.1	2008-05-23	2005-11-16		ENSG00000152256	ENSG00000152256			8809	protein-coding gene	gene with protein product		602524	"pyruvate dehydrogenase kinase, isoenzyme 1"			7499431	Standard	NR_103731		Approved		uc002uhs.3	Q15118	OTTHUMG00000132285	ENST00000282077.3:c.1099C>A	2.37:g.173457705C>A	ENSP00000282077:p.Gln367Lys					PDK1_ENST00000282077.2_Missense_Mutation_p.Q367K|PDK1_ENST00000392571.2_Missense_Mutation_p.Q387K|PDK1_ENST00000543905.1_Missense_Mutation_p.Q291K|PDK1_ENST00000544863.1_Missense_Mutation_p.Q212K	p.Q367K	NM_002610.3	NP_002601.1	Q15118	PDK1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.12)		10	1199	+			367			Histidine kinase.		B2R6T1|B7Z937|D3DPD8|E9PD65|Q308M4	Missense_Mutation	SNP	ENST00000282077.3	37	c.1099C>A	CCDS2250.1	.	.	.	.	.	.	.	.	.	.	C	11.36	1.614680	0.28712	.	.	ENSG00000152256	ENST00000543905;ENST00000544863;ENST00000282077;ENST00000392571;ENST00000410055	T;T;T;T;T	0.53857	0.6;0.6;0.6;0.6;0.6	5.8	5.8	0.92144	Signal transduction histidine kinase, core (1);ATPase-like, ATP-binding domain (4);	0.099026	0.64402	D	0.000002	T	0.26593	0.0650	N	0.01679	-0.765	0.44711	D	0.997707	B;B	0.06786	0.001;0.0	B;B	0.08055	0.003;0.002	T	0.17048	-1.0382	10	0.24483	T	0.36	-6.6937	14.9017	0.70684	0.1432:0.8568:0.0:0.0	.	367;387	Q15118;E9PD65	PDK1_HUMAN;.	K	291;212;367;387;367	ENSP00000438567:Q291K;ENSP00000437502:Q212K;ENSP00000282077:Q367K;ENSP00000376352:Q387K;ENSP00000386985:Q367K	ENSP00000282077:Q367K	Q	+	1	0	PDK1	173165951	0.996000	0.38824	0.957000	0.39632	0.939000	0.58152	3.338000	0.52128	2.775000	0.95449	0.650000	0.86243	CAA		0.378	PDK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255380.3	NM_002610		4	160	1	0	0.150653	1	0.157827	4	160					A	173457705	C	A	173457705	3	1	20	1	0	0	0	0	1	0	0	0	11675	479	17	5	1137	5	PDK1	2	173457705	Missense_Mutation	SNP	C	TCGA-CH-5746-01A-11D-1576-08		173457705	69741668	7	801											
CHPF	79586	broad.mit.edu	37	chr2	220406592	220406592	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caggctgaggtggccagttaGgcgtgccaggccgtgcgcct	5	7	17	12	3	0	1	0	1	0	0	0	1	0	1	4	5	2	2	4	5	1	1			TCGA-CH-5746-01A-11D-1576-08	TCGA-CH-5746-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96a30919-cafe-43b9-9f46-226a8a38d246	040ca048-b608-4268-968c-2d436e9293cd	g.chr2:220406592G>T	ENST00000243776.6	-	2	882	c.634C>A	c.(634-636)Cta>Ata	p.L212I	TMEM198_ENST00000344458.2_5'Flank|CHPF_ENST00000535926.1_Missense_Mutation_p.L50I|TMEM198_ENST00000373883.3_5'Flank|CHPF_ENST00000373891.2_Missense_Mutation_p.L212I	NM_024536.5	NP_078812	Q8IZ52	CHSS2_HUMAN	chondroitin polymerizing factor	212					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi cisterna membrane (GO:0032580)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity (GO:0047238)|metal ion binding (GO:0046872)|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity (GO:0050510)	p.L212I(1)		central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)	21		Renal(207;0.0183)		Epithelial(149;3.02e-08)|all cancers(144;3.41e-06)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802)		TGGCCAGTTAGGCGTGCCAGG	0.706											OREG0015229	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000243776.6																			1	Substitution - Missense(1)	p.L212I(1)	prostate(1)	central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)	21						c.(634-636)Cta>Ata		chondroitin polymerizing factor							31	26	28					2																	220406592		2200	4299	6499	SO:0001583	missense	79586					Golgi cisterna membrane|integral to membrane	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity|protein binding	g.chr2:220406592G>T	BC008878	CCDS2443.1, CCDS56169.1	2q35	2014-02-12			ENSG00000123989	ENSG00000123989	2.4.1.175, 2.4.1.226	"Beta 3-glycosyltransferases", "Beta 4-glycosyltransferases"	24291	protein-coding gene	gene with protein product	"chondroitin sulfate synthase 2"	610405				11230166, 12716890	Standard	NM_024536		Approved	CSS2, CHSY2	uc002vmc.4	Q8IZ52	OTTHUMG00000058929	ENST00000243776.6:c.634C>A	2.37:g.220406592G>T	ENSP00000243776:p.Leu212Ile		OREG0015229	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	2266	CHPF_ENST00000535926.1_Missense_Mutation_p.L50I|CHPF_ENST00000373891.2_Missense_Mutation_p.L212I	p.L212I	NM_024536.5	NP_078812.2	Q8IZ52	CHSS2_HUMAN		Epithelial(149;3.02e-08)|all cancers(144;3.41e-06)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802)	2	882	-		Renal(207;0.0183)	212					B4DXU0|Q6UXD6|Q7L4G1|Q9H0F8|Q9H618	Missense_Mutation	SNP	ENST00000243776.6	37	c.634C>A	CCDS2443.1	.	.	.	.	.	.	.	.	.	.	G	15.01	2.706923	0.48412	.	.	ENSG00000123989	ENST00000243776;ENST00000535926;ENST00000373891	T;T	0.15256	2.44;2.51	4.29	2.49	0.30216	.	0.000000	0.64402	D	0.000013	T	0.35799	0.0944	M	0.74647	2.275	0.51012	D	0.999905	D;P	0.67145	0.996;0.791	D;B	0.80764	0.994;0.279	T	0.04203	-1.0969	10	0.33141	T	0.24	-9.9151	9.0295	0.36249	0.2435:0.0:0.7565:0.0	.	212;212	F8W6H2;Q8IZ52	.;CHSS2_HUMAN	I	212;50;212	ENSP00000243776:L212I;ENSP00000445571:L50I	ENSP00000243776:L212I	L	-	1	2	CHPF	220114836	1.000000	0.71417	0.161000	0.22692	0.977000	0.68977	2.832000	0.48152	0.577000	0.29470	0.549000	0.68633	CTA		0.706	CHPF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130268.1	NM_024536		3	30	1	0	0.115264	1	0.123698	3	30					T	220406592	G	T	220406592	3	4	20	1	0	0	0	0	1	0	0	0	3368	991	35	5	1705	5	CHPF	2	220406592	Missense_Mutation	SNP	G	TCGA-CH-5746-01A-11D-1576-08	46948887	220406592	22792781	8	802											
PHF15	23338	broad.mit.edu	37	chr5	133914476	133914476	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ccaccaccaccgcaggacggGcctggttcacggacgactcc	8	4	11	18	4	1	0	1	0	0	0	2	3	2	2	6	4	0	2	6	4	0	1			TCGA-CH-5746-01A-11D-1576-08	TCGA-CH-5746-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96a30919-cafe-43b9-9f46-226a8a38d246	040ca048-b608-4268-968c-2d436e9293cd	g.chr5:133914476G>A	ENST00000282605.4	+	12	2060	c.1974G>A	c.(1972-1974)ggG>ggA	p.G658G	PHF15_ENST00000395003.1_Silent_p.G614G|PHF15_ENST00000402835.1_3'UTR|PHF15_ENST00000361895.2_Silent_p.G615G														p.G614G(1)		NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	22			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CGCAGGACGGGCCTGGTTCAC	0.672																																						ENST00000395003.1																			1	Substitution - coding silent(1)	p.G614G(1)	prostate(1)	NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	22						c.(1840-1842)ggG>ggA									43	47	45					5																	133914476		2203	4300	6503	SO:0001819	synonymous_variant	0				histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation	histone acetyltransferase complex	zinc ion binding	g.chr5:133914476G>A																												ENST00000282605.4:c.1974G>A	5.37:g.133914476G>A						PHF15_ENST00000282605.4_Silent_p.G658G|PHF15_ENST00000361895.2_Silent_p.G615G|PHF15_ENST00000402835.1_3'UTR	p.G614G	NM_015288.4	NP_056103.4	Q9NQC1	JADE2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		11	2021	+			614			Pro-rich.			Silent	SNP	ENST00000282605.4	37	c.1842G>A																																																																																					0.672	PHF15-003	NOVEL	alternative_5_UTR|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000251170.1			5	48	0	0	0	1	0	5	48					A	133914476	G	A	133914476	2	1	20	1	0	0	0	0	0	0	0	1	11826	1190	42	3		3	PHF15	5	133914476	Silent	SNP	G	TCGA-CH-5746-01A-11D-1576-08		133914476	47000784	9	803											
GCM2	9247	broad.mit.edu	37	chr6	10881950	10881950	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cacttacctgaggcatctgcGgatcgttgatgtcccagctg	7	11	11	12	2	1	2	0	2	1	0	3	3	2	3	2	2	3	3	2	2	1	2			TCGA-CH-5746-01A-11D-1576-08	TCGA-CH-5746-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96a30919-cafe-43b9-9f46-226a8a38d246	040ca048-b608-4268-968c-2d436e9293cd	g.chr6:10881950G>T	ENST00000379491.4	-	1	224	c.77C>A	c.(76-78)cCg>cAg	p.P26Q	SYCP2L_ENST00000543878.1_Intron|RP11-637O19.2_ENST00000436249.3_RNA|RP11-637O19.3_ENST00000480294.1_Intron	NM_004752.3	NP_004743.1	O75603	GCM2_HUMAN	glial cells missing homolog 2 (Drosophila)	26					cell differentiation (GO:0030154)|cellular calcium ion homeostasis (GO:0006874)|cellular phosphate ion homeostasis (GO:0030643)|cellular response to organic substance (GO:0071310)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|parathyroid gland development (GO:0060017)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)	p.P26Q(1)		NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	30	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)				AGGCATCTGCGGATCGTTGAT	0.642																																						ENST00000379491.4																			1	Substitution - Missense(1)	p.P26Q(1)	prostate(1)	NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	30						c.(76-78)cCg>cAg		glial cells missing homolog 2 (Drosophila)							52	46	48					6																	10881950		2203	4300	6503	SO:0001583	missense	9247				cellular calcium ion homeostasis|cellular phosphate ion homeostasis|parathyroid gland development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|sequence-specific DNA binding	g.chr6:10881950G>T	AF079550	CCDS4517.1	6p24.2	2008-08-29	2001-11-28	2002-09-27	ENSG00000124827	ENSG00000124827			4198	protein-coding gene	gene with protein product		603716	"glial cells missing (Drosophila) homolog b"	GCMB		9928992	Standard	NM_004752		Approved	hGCMb	uc003mzn.4	O75603	OTTHUMG00000014249	ENST00000379491.4:c.77C>A	6.37:g.10881950G>T	ENSP00000368805:p.Pro26Gln					SYCP2L_ENST00000543878.1_Intron|RP11-637O19.3_ENST00000480294.1_Intron	p.P26Q	NM_004752.3	NP_004743.1	O75603	GCM2_HUMAN			1	224	-	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)	26					D3GDV6|Q5THN5	Missense_Mutation	SNP	ENST00000379491.4	37	c.77C>A	CCDS4517.1	.	.	.	.	.	.	.	.	.	.	G	31	5.061572	0.93846	.	.	ENSG00000124827	ENST00000379491	T	0.73363	-0.74	5.38	5.38	0.77491	.	0.000000	0.85682	D	0.000000	D	0.83454	0.5258	M	0.68593	2.085	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.84625	0.0686	10	0.66056	D	0.02	-14.6888	19.1268	0.93388	0.0:0.0:1.0:0.0	.	26	O75603	GCM2_HUMAN	Q	26	ENSP00000368805:P26Q	ENSP00000368805:P26Q	P	-	2	0	GCM2	10989936	1.000000	0.71417	0.937000	0.37676	0.912000	0.54170	9.005000	0.93587	2.503000	0.84419	0.561000	0.74099	CCG		0.642	GCM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039844.1			3	68	1	0	0.115264	1	0.123698	3	68					T	10881950	G	T	10881950	3	4	20	1	0	0	0	0	1	0	0	0	6298	1116	39	5	1463	5	GCM2	6	10881950	Missense_Mutation	SNP	G	TCGA-CH-5746-01A-11D-1576-08		10881950	160233117	10	804											
TBX18	9096	broad.mit.edu	37	chr6	85448257	85448257	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atcttcaaaggtcagagtccGtagtgatggtcgccagaatg	11	10	12	8	2	3	3	2	1	1	2	5	3	4	3	2	2	0	1	2	2	3	2	rs571410094		TCGA-CH-5746-01A-11D-1576-08	TCGA-CH-5746-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96a30919-cafe-43b9-9f46-226a8a38d246	040ca048-b608-4268-968c-2d436e9293cd	g.chr6:85448257G>A	ENST00000369663.5	-	7	1394	c.1057C>T	c.(1057-1059)Cgg>Tgg	p.R353W	TBX18_ENST00000606784.1_Missense_Mutation_p.R195W	NM_001080508.1	NP_001073977.1	O95935	TBX18_HUMAN	T-box 18	353					anterior/posterior axis specification (GO:0009948)|cochlea morphogenesis (GO:0090103)|morphogenesis of embryonic epithelium (GO:0016331)|negative regulation of canonical Wnt signaling pathway involved in neural plate anterior/posterior pattern formation (GO:0060829)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of mesenchymal cell proliferation involved in ureter development (GO:2000729)|sensory perception of sound (GO:0007605)|sinoatrial node development (GO:0003163)|smooth muscle cell differentiation (GO:0051145)|somitogenesis (GO:0001756)|ureter development (GO:0072189)	nucleus (GO:0005634)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)	p.R353W(2)		NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(9)|liver(1)|lung(31)|ovary(2)|pancreas(3)|prostate(6)|skin(3)	61		all_cancers(76;0.000283)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0858)		BRCA - Breast invasive adenocarcinoma(108;0.0267)		GTCAGAGTCCGTAGTGATGGT	0.468													G|||	1	0.000199681	0	0	5008	,	,		19793	0.001		0	False		,,,				2504	0					ENST00000369663.5																			2	Substitution - Missense(2)	p.R353W(2)	large_intestine(1)|prostate(1)	NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(9)|liver(1)|lung(31)|ovary(2)|pancreas(3)|prostate(6)|skin(3)	61						c.(1057-1059)Cgg>Tgg		T-box 18							218	204	209					6																	85448257		2203	4300	6503	SO:0001583	missense	9096				multicellular organismal development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr6:85448257G>A	AJ010278	CCDS34495.1	6q14.1-q15	2012-12-19			ENSG00000112837	ENSG00000112837		"T-boxes"	11595	protein-coding gene	gene with protein product		604613				9888994, 16688725, 23242162	Standard	NM_001080508		Approved		uc003pkl.2	O95935	OTTHUMG00000015129	ENST00000369663.5:c.1057C>T	6.37:g.85448257G>A	ENSP00000358677:p.Arg353Trp					TBX18_ENST00000606784.1_Missense_Mutation_p.R195W	p.R353W	NM_001080508.1	NP_001073977.1	O95935	TBX18_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0267)	7	1394	-		all_cancers(76;0.000283)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0858)	353					A2RU13|Q7Z6U4|Q9UJI6	Missense_Mutation	SNP	ENST00000369663.5	37	c.1057C>T	CCDS34495.1	.	.	.	.	.	.	.	.	.	.	G	17.52	3.409287	0.62399	.	.	ENSG00000112837	ENST00000416980;ENST00000369663	D	0.89343	-2.5	5.54	3.61	0.41365	.	0.000000	0.85682	D	0.000000	D	0.88514	0.6457	L	0.34521	1.04	0.58432	D	0.999997	D;D	0.89917	1.0;1.0	D;D	0.91635	0.969;0.999	D	0.90421	0.4417	10	0.87932	D	0	.	13.4672	0.61260	0.0:0.0:0.5625:0.4375	.	269;353	Q8IW86;O95935	.;TBX18_HUMAN	W	268;353	ENSP00000358677:R353W	ENSP00000358677:R353W	R	-	1	2	TBX18	85504976	0.987000	0.35691	0.934000	0.37439	0.548000	0.35241	1.935000	0.40173	1.427000	0.47276	0.650000	0.86243	CGG		0.468	TBX18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041378.2	NM_001080508		93	398	0	0	0	1	0	93	398					A	85448257	G	A	85448257	3	1	20	1	0	0	0	0	1	0	0	0	15650	1144	40	1	774	1	TBX18	6	85448257	Missense_Mutation	SNP	G	TCGA-CH-5746-01A-11D-1576-08	74566307	85448257	85666810	11	805											
REEP4	80346	broad.mit.edu	37	chr8	21996234	21996235	+	Frame_Shift_Ins	INS	-	-	G																															tcggggccgggctggcgcccINSgggggactgcctcagtatct																										TCGA-CH-5746-01A-11D-1576-08	TCGA-CH-5746-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96a30919-cafe-43b9-9f46-226a8a38d246	040ca048-b608-4268-968c-2d436e9293cd	g.chr8:21996234_21996235insG	ENST00000306306.3	-	7	1093_1094	c.625_626insC	c.(625-627)cggfs	p.R209fs	REEP4_ENST00000523293.1_Intron|REEP4_ENST00000334530.5_Frame_Shift_Ins_p.G164fs	NM_025232.2	NP_079508.2	Q9H6H4	REEP4_HUMAN	receptor accessory protein 4	209					mitotic nuclear division (GO:0007067)|mitotic nuclear envelope reassembly (GO:0007084)|nuclear envelope organization (GO:0006998)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|microtubule (GO:0005874)	microtubule binding (GO:0008017)			kidney(1)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	7				Colorectal(74;0.00187)|COAD - Colon adenocarcinoma(73;0.061)|READ - Rectum adenocarcinoma(644;0.0993)		GGCTGGCGCCCGGGGGACTGCC	0.663																																						ENST00000306306.3																			0				kidney(1)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	7						c.(625-627)ggcfs		receptor accessory protein 4																																				SO:0001589	frameshift_variant	80346					integral to membrane		g.chr8:21996234_21996235insG	BC013048	CCDS6024.1	8p21.3	2008-05-02	2006-02-07	2006-02-07	ENSG00000168476	ENSG00000168476		"Receptor accessory proteins"	26176	protein-coding gene	gene with protein product		609349	"chromosome 8 open reading frame 20"	C8orf20		16271481, 15550249	Standard	NM_025232		Approved	FLJ22246, FLJ22277, PP432	uc003xau.1	Q9H6H4	OTTHUMG00000131491	ENST00000306306.3:c.626dupC	8.37:g.21996239_21996239dupG	ENSP00000303482:p.Arg209fs					REEP4_ENST00000523293.1_Intron|REEP4_ENST00000334530.5_Frame_Shift_Ins_p.A164fs	p.G209fs	NM_025232.2	NP_079508.2	Q9H6H4	REEP4_HUMAN		Colorectal(74;0.00187)|COAD - Colon adenocarcinoma(73;0.061)|READ - Rectum adenocarcinoma(644;0.0993)	7	1093_1094	-			209					D3DSQ9|Q86VL1|Q9H6I5|Q9HBP4	Frame_Shift_Ins	INS	ENST00000306306.3	37	c.625_626insC	CCDS6024.1																																																																																				0.663	REEP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254337.2	NM_025232		11	253						11	253	---	---	---	---	G	21996235	-	G	21996234	7	5	20	1	0	1	1	0	0	0	0	0	13207	652	23	0	155	0	REEP4	8	21996234	Frame_Shift_Ins	INS	-	TCGA-CH-5746-01A-11D-1576-08		21996234	124367788	12	806											
DPYSL2	1808	broad.mit.edu	37	chr8	26484737	26484737	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgtctctctctcagatttatGaagtactgagtgtgatccgg	8	15	10	8	1	3	4	1	3	2	1	6	4	4	4	1	1	1	1	1	1	3	3			TCGA-CH-5746-01A-11D-1576-08	TCGA-CH-5746-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96a30919-cafe-43b9-9f46-226a8a38d246	040ca048-b608-4268-968c-2d436e9293cd	g.chr8:26484737G>A	ENST00000311151.5	+	6	959	c.547G>A	c.(547-549)Gaa>Aaa	p.E183K	DPYSL2_ENST00000521983.1_3'UTR|DPYSL2_ENST00000521913.1_Missense_Mutation_p.E147K|DPYSL2_ENST00000523027.1_Missense_Mutation_p.E147K	NM_001386.5	NP_001377.1	Q16555	DPYL2_HUMAN	dihydropyrimidinase-like 2	183					axon guidance (GO:0007411)|cytoskeleton organization (GO:0007010)|endocytosis (GO:0006897)|nervous system development (GO:0007399)|nucleobase-containing compound metabolic process (GO:0006139)|olfactory bulb development (GO:0021772)|positive regulation of glutamate secretion (GO:0014049)|pyrimidine nucleobase catabolic process (GO:0006208)|regulation of neuron differentiation (GO:0045664)|response to amphetamine (GO:0001975)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|signal transduction (GO:0007165)|spinal cord development (GO:0021510)|synaptic vesicle transport (GO:0048489)	axon (GO:0030424)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|membrane (GO:0016020)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)|protein complex (GO:0043234)	dihydropyrimidinase activity (GO:0004157)	p.E183K(1)		breast(1)|endometrium(5)|large_intestine(8)|lung(3)|prostate(1)|skin(1)|stomach(1)	20		all_cancers(63;0.121)|Ovarian(32;2.68e-05)|all_epithelial(46;0.116)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;3.33e-10)|Colorectal(74;0.183)		TCAGATTTATGAAGTACTGAG	0.483																																						ENST00000311151.5																			1	Substitution - Missense(1)	p.E183K(1)	prostate(1)	breast(1)|endometrium(5)|large_intestine(8)|lung(3)|prostate(1)|skin(1)|stomach(1)	20						c.(547-549)Gaa>Aaa		dihydropyrimidinase-like 2							115	107	110					8																	26484737		2203	4300	6503	SO:0001583	missense	1808				axon guidance|pyrimidine base catabolic process|signal transduction	cytosol	dihydropyrimidinase activity|protein binding	g.chr8:26484737G>A	D78013	CCDS6051.1, CCDS59096.1	8p22-p21	2011-09-28			ENSG00000092964	ENSG00000092964			3014	protein-coding gene	gene with protein product		602463				8973361	Standard	NM_001197293		Approved	DRP-2, DHPRP2, CRMP2, DRP2	uc003xfa.3	Q16555	OTTHUMG00000099439	ENST00000311151.5:c.547G>A	8.37:g.26484737G>A	ENSP00000309539:p.Glu183Lys					DPYSL2_ENST00000521983.1_3'UTR|DPYSL2_ENST00000521913.1_Missense_Mutation_p.E147K|DPYSL2_ENST00000523027.1_Missense_Mutation_p.E147K	p.E183K	NM_001386.5	NP_001377.1	Q16555	DPYL2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;3.33e-10)|Colorectal(74;0.183)	6	959	+		all_cancers(63;0.121)|Ovarian(32;2.68e-05)|all_epithelial(46;0.116)	183					A8K5H2|B4DR31|D3DSS7|O00424	Missense_Mutation	SNP	ENST00000311151.5	37	c.547G>A	CCDS6051.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.198118	0.79015	.	.	ENSG00000092964	ENST00000521913;ENST00000311151;ENST00000522745;ENST00000523027	D;D;D;D	0.90261	-2.64;-2.64;-2.64;-2.64	5.58	5.58	0.84498	Amidohydrolase 1 (1);	0.000000	0.85682	D	0.000000	D	0.94042	0.8091	L	0.52011	1.625	0.80722	D	1	B;D;D	0.76494	0.17;0.991;0.999	B;D;D	0.78314	0.099;0.977;0.991	D	0.93595	0.6925	10	0.49607	T	0.09	-22.2419	19.5653	0.95390	0.0:0.0:1.0:0.0	.	183;183;239	Q53ET2;Q16555;Q59GB4	.;DPYL2_HUMAN;.	K	147;183;183;147	ENSP00000427985:E147K;ENSP00000309539:E183K;ENSP00000428909:E183K;ENSP00000431117:E147K	ENSP00000309539:E183K	E	+	1	0	DPYSL2	26540654	1.000000	0.71417	1.000000	0.80357	0.758000	0.43043	9.864000	0.99589	2.612000	0.88384	0.655000	0.94253	GAA		0.483	DPYSL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216904.3	NM_001386		14	55	0	0	0	1	0	14	55					A	26484737	G	A	26484737	3	1	20	1	0	0	0	0	1	0	0	0	4747	1291	45	3	569	3	DPYSL2	8	26484737	Missense_Mutation	SNP	G	TCGA-CH-5746-01A-11D-1576-08	4488503	26484737	119879285	13	807											
BRD3	8019	broad.mit.edu	37	chr9	136899859	136899859	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgctgctgctcagctgccCgctgacatcctgcagacgct	5	10	10	16	2	1	2	1	1	0	1	2	2	2	2	2	0	6	7	2	0	0	1	rs202198193		TCGA-CH-5746-01A-11D-1576-08	TCGA-CH-5746-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96a30919-cafe-43b9-9f46-226a8a38d246	040ca048-b608-4268-968c-2d436e9293cd	g.chr9:136899859C>T	ENST00000303407.7	-	11	2214	c.2029G>A	c.(2029-2031)Ggg>Agg	p.G677R	LINC00094_ENST00000605164.1_RNA|BRD3_ENST00000473349.1_5'UTR	NM_007371.3	NP_031397.1	Q15059	BRD3_HUMAN	bromodomain containing 3	677	Ser-rich.				chromatin modification (GO:0016568)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|lysine-acetylated histone binding (GO:0070577)	p.G677R(2)	BRD3/C15orf55(3)	kidney(1)|skin(1)|stomach(4)	6				OV - Ovarian serous cystadenocarcinoma(145;1.43e-08)|Epithelial(140;8.41e-08)|all cancers(34;5.21e-07)		CTCAGCTGCCCGCTGACATCC	0.617			T	C15orf55	lethal midline carcinoma of young people																																	ENST00000303407.7				Dom	yes		9	9q34	8019	T	bromodomain containing 3			E	C15orf55		lethal midline carcinoma of young people	BRD3/C15orf55(3)	2	Substitution - Missense(2)	p.G677R(2)	prostate(2)	kidney(1)|skin(1)|stomach(4)	6						c.(2029-2031)Ggg>Agg		bromodomain containing 3							104	102	103					9																	136899859		2203	4300	6503	SO:0001583	missense	8019					nucleus	protein binding	g.chr9:136899859C>T		CCDS6980.1	9q34	2010-12-23	2002-01-14		ENSG00000169925	ENSG00000169925			1104	protein-coding gene	gene with protein product	"RING3-like"	601541	"bromodomain-containing 3"			7584044, 8781126	Standard	NM_007371		Approved	RING3L, ORFX, KIAA0043	uc004cew.3	Q15059	OTTHUMG00000021004	ENST00000303407.7:c.2029G>A	9.37:g.136899859C>T	ENSP00000305918:p.Gly677Arg					BRD3_ENST00000473349.1_5'UTR	p.G677R	NM_007371.3	NP_031397.1	Q15059	BRD3_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.43e-08)|Epithelial(140;8.41e-08)|all cancers(34;5.21e-07)	11	2214	-			677			Ser-rich.		B1APD9|Q4G5Y3|Q5T1R7|Q8N5M3|Q92645	Missense_Mutation	SNP	ENST00000303407.7	37	c.2029G>A	CCDS6980.1	.	.	.	.	.	.	.	.	.	.	C	25.5	4.643449	0.87859	.	.	ENSG00000169925	ENST00000303407;ENST00000540795	T	0.33216	1.42	4.76	4.76	0.60689	.	0.000000	0.85682	D	0.000000	T	0.58736	0.2143	M	0.79805	2.47	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.64676	-0.6351	10	0.59425	D	0.04	-40.4828	16.7337	0.85442	0.0:1.0:0.0:0.0	.	677	Q15059	BRD3_HUMAN	R	677;356	ENSP00000305918:G677R	ENSP00000305918:G677R	G	-	1	0	BRD3	135889680	1.000000	0.71417	0.925000	0.36789	0.830000	0.47004	6.896000	0.75665	2.185000	0.69588	0.491000	0.48974	GGG		0.617	BRD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055390.4	NM_007371		4	181	0	0	0	1	0	4	181					T	136899859	C	T	136899859	3	4	20	1	0	0	0	0	1	0	0	0	1503	652	23	2	159	2	BRD3	9	136899859	Missense_Mutation	SNP	C	TCGA-CH-5746-01A-11D-1576-08		136899859	4313572	14	808											
PHYH	5264	broad.mit.edu	37	chr10	13330436	13330436	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caaccagacagccgttgttcCggctgatgtgctccatcgcc	7	9	10	15	3	0	2	0	1	0	1	3	2	2	2	5	1	3	4	5	1	1	2			TCGA-CH-5746-01A-11D-1576-08	TCGA-CH-5746-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96a30919-cafe-43b9-9f46-226a8a38d246	040ca048-b608-4268-968c-2d436e9293cd	g.chr10:13330436C>T	ENST00000263038.4	-	6	660	c.602G>A	c.(601-603)cGg>cAg	p.R201Q	PHYH_ENST00000396920.3_Missense_Mutation_p.R184Q|PHYH_ENST00000396913.2_Missense_Mutation_p.R101Q	NM_006214.3	NP_006205.1	O14832	PAHX_HUMAN	phytanoyl-CoA 2-hydroxylase	201					cellular lipid metabolic process (GO:0044255)|fatty acid alpha-oxidation (GO:0001561)|isoprenoid metabolic process (GO:0006720)|methyl-branched fatty acid metabolic process (GO:0097089)|small molecule metabolic process (GO:0044281)	mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	cofactor binding (GO:0048037)|electron carrier activity (GO:0009055)|L-ascorbic acid binding (GO:0031418)|metal ion binding (GO:0046872)|phytanoyl-CoA dioxygenase activity (GO:0048244)	p.R201Q(1)		NS(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2)	25		Ovarian(717;0.0448)			Antihemophilic Factor(DB00025)|Vitamin C(DB00126)	GCCGTTGTTCCGGCTGATGTG	0.627																																						ENST00000396920.3																			1	Substitution - Missense(1)	p.R201Q(1)	prostate(1)	NS(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2)	25						c.(550-552)cGg>cAg		phytanoyl-CoA 2-hydroxylase	Antihemophilic Factor(DB00025)|Vitamin C(DB00126)						68	65	66					10																	13330436		2203	4300	6503	SO:0001583	missense	5264				fatty acid alpha-oxidation|nervous system development	peroxisomal matrix	electron carrier activity|L-ascorbic acid binding|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|phytanoyl-CoA dioxygenase activity|protein binding	g.chr10:13330436C>T		CCDS7097.1, CCDS41489.1	10p13	2010-04-27	2006-01-09		ENSG00000107537	ENSG00000107537	1.14.11.18		8940	protein-coding gene	gene with protein product	"Refsum disease", "phytanoyl-CoA dioxygenase"	602026	"phytanoyl-CoA hydroxylase (Refsum disease)", "phytanoyl-CoA hydroxylase"			9326939	Standard	XM_005252469		Approved	PAHX, RD, PHYH1	uc001imf.3	O14832	OTTHUMG00000017693	ENST00000263038.4:c.602G>A	10.37:g.13330436C>T	ENSP00000263038:p.Arg201Gln					PHYH_ENST00000263038.4_Missense_Mutation_p.R201Q|PHYH_ENST00000396913.2_Missense_Mutation_p.R101Q	p.R184Q			O14832	PAHX_HUMAN			6	955	-		Ovarian(717;0.0448)	201					A8MTS8|B1ALH5	Missense_Mutation	SNP	ENST00000263038.4	37	c.551G>A	CCDS7097.1	.	.	.	.	.	.	.	.	.	.	C	16.20	3.055245	0.55325	.	.	ENSG00000107537	ENST00000396913;ENST00000263038;ENST00000396920;ENST00000453759;ENST00000479604	D;D;D;D;D	0.89485	-2.52;-2.52;-2.52;-2.52;-2.52	5.69	3.85	0.44370	.	0.150191	0.56097	N	0.000034	D	0.91994	0.7464	M	0.90019	3.08	0.23820	N	0.996755	P;D	0.56035	0.947;0.974	P;P	0.51229	0.532;0.663	D	0.84800	0.0784	10	0.30854	T	0.27	-19.1168	10.3563	0.43967	0.0:0.7722:0.0:0.2278	.	184;201	B1ALH6;O14832	.;PAHX_HUMAN	Q	101;201;184;101;203	ENSP00000380121:R101Q;ENSP00000263038:R201Q;ENSP00000380126:R184Q;ENSP00000412525:R101Q;ENSP00000420117:R203Q	ENSP00000263038:R201Q	R	-	2	0	PHYH	13370442	0.997000	0.39634	0.224000	0.23877	0.025000	0.11179	3.279000	0.51670	0.764000	0.33197	0.655000	0.94253	CGG		0.627	PHYH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046845.2			3	88	0	0	0	1	0	3	88					T	13330436	C	T	13330436	3	4	20	1	0	0	0	0	1	0	0	0	11864	652	23	2	430	2	PHYH	10	13330436	Missense_Mutation	SNP	C	TCGA-CH-5746-01A-11D-1576-08		13330436	122204311	15	809											
CNGA4	1262	broad.mit.edu	37	chr11	6261464	6261464	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgaaccgctttctccgcgCgccccgcctcttcgaggcct	3	9	10	19	6	2	1	0	1	2	0	4	2	2	1	6	1	1	2	6	1	1	2			TCGA-CH-5746-01A-11D-1576-08	TCGA-CH-5746-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96a30919-cafe-43b9-9f46-226a8a38d246	040ca048-b608-4268-968c-2d436e9293cd	g.chr11:6261464C>T	ENST00000379936.2	+	4	555	c.440C>T	c.(439-441)gCg>gTg	p.A147V	CNGA4_ENST00000533426.1_Intron	NM_001037329.3	NP_001032406.1	Q8IV77	CNGA4_HUMAN	cyclic nucleotide gated channel alpha 4	147					phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|sensory perception of smell (GO:0007608)	integral component of plasma membrane (GO:0005887)	cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|intracellular cAMP activated cation channel activity (GO:0005222)|intracellular cGMP activated cation channel activity (GO:0005223)|voltage-gated potassium channel activity (GO:0005249)	p.A147V(1)		endometrium(2)|kidney(1)|large_intestine(9)|lung(24)|prostate(3)|skin(1)	40		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;2.04e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TTTCTCCGCGCGCCCCGCCTC	0.587																																						ENST00000379936.2																			1	Substitution - Missense(1)	p.A147V(1)	prostate(1)	endometrium(2)|kidney(1)|large_intestine(9)|lung(24)|prostate(3)|skin(1)	40						c.(439-441)gCg>gTg		cyclic nucleotide gated channel alpha 4							79	86	84					11																	6261464		2201	4296	6497	SO:0001583	missense	1262				response to stimulus|sensory perception of smell		cAMP binding	g.chr11:6261464C>T	AK122736	CCDS31408.1	11p15.4	2011-07-05		2002-01-18		ENSG00000132259		"Voltage-gated ion channels / Cyclic nucleotide-regulated channels"	2152	protein-coding gene	gene with protein product		609472	"cyclic nucleotide gated channel beta 2"	CNCA2, CNGB2		11764791, 16382102	Standard	NM_001037329		Approved	OCNC2, OCNCb, CNG5	uc001mco.3	Q8IV77		ENST00000379936.2:c.440C>T	11.37:g.6261464C>T	ENSP00000369268:p.Ala147Val					CNGA4_ENST00000533426.1_Intron	p.A147V	NM_001037329.3	NP_001032406.1	Q8IV77	CNGA4_HUMAN		Epithelial(150;2.04e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)	4	555	+		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)	147						Missense_Mutation	SNP	ENST00000379936.2	37	c.440C>T	CCDS31408.1	.	.	.	.	.	.	.	.	.	.	C	1.015	-0.686802	0.03328	.	.	ENSG00000132259	ENST00000379936	D	0.97404	-4.37	5.26	-5.43	0.02632	Ion transport (1);	0.589948	0.18900	N	0.128064	D	0.86760	0.6010	N	0.01668	-0.77	0.09310	N	1	B;B	0.06786	0.0;0.001	B;B	0.04013	0.001;0.001	T	0.74450	-0.3661	10	0.22109	T	0.4	.	14.3643	0.66795	0.0:0.5734:0.0:0.4266	.	147;107	Q8IV77;Q8IV77-2	CNGA4_HUMAN;.	V	147	ENSP00000369268:A147V	ENSP00000369268:A147V	A	+	2	0	CNGA4	6218040	0.000000	0.05858	0.000000	0.03702	0.284000	0.27059	-0.473000	0.06615	-1.108000	0.03000	-0.794000	0.03295	GCG		0.587	CNGA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383765.2	NM_001037329		5	205	0	0	0	1	0	5	205					T	6261464	C	T	6261464	3	4	20	1	0	0	0	0	1	0	0	0	3599	768	27	1	454	1	CNGA4	11	6261464	Missense_Mutation	SNP	C	TCGA-CH-5746-01A-11D-1576-08		6261464	128745052	16	810											
SLC2A14	144195	broad.mit.edu	37	chr12	7982567	7982567	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ccataaggcagccaccagtgGcagccaacaggttgacaatc	13	5	10	13	0	0	1	0	1	0	0	1	1	0	1	4	3	3	3	4	3	3	2	rs145793375	byFrequency	TCGA-CH-5746-01A-11D-1576-08	TCGA-CH-5746-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96a30919-cafe-43b9-9f46-226a8a38d246	040ca048-b608-4268-968c-2d436e9293cd	g.chr12:7982567G>A	ENST00000543909.1	-	10	1136	c.377C>T	c.(376-378)gCc>gTc	p.A126V	SLC2A14_ENST00000542505.1_Intron|SLC2A14_ENST00000340749.5_Missense_Mutation_p.A103V|SLC2A14_ENST00000539924.1_Missense_Mutation_p.A141V|SLC2A14_ENST00000396589.2_Missense_Mutation_p.A126V|SLC2A14_ENST00000431042.2_Missense_Mutation_p.A103V|SLC2A14_ENST00000542546.1_Missense_Mutation_p.A17V|SLC2A14_ENST00000535295.1_Missense_Mutation_p.A17V			Q8TDB8	GTR14_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 14	126					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	glucose transmembrane transporter activity (GO:0005355)	p.A126V(1)		central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	38				Kidney(36;0.0883)		GCCACCAGTGGCAGCCAACAG	0.478													g|||	5	0.000998403	0.0038	0	5008	,	,		-128	0		0	False		,,,				2504	0					ENST00000543909.1																			1	Substitution - Missense(1)	p.A126V(1)	prostate(1)	central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	38						c.(376-378)gCc>gTc		solute carrier family 2 (facilitated glucose transporter), member 14		G	VAL/ALA	8,4398	14.3+/-33.2	0,8,2195	65	63	64		377	1.9	0	12	dbSNP_134	64	2,8598	2.2+/-6.3	0,2,4298	no	missense	SLC2A14	NM_153449.2	64	0,10,6493	AA,AG,GG		0.0233,0.1816,0.0769	benign	126/521	7982567	10,12996	2203	4300	6503	SO:0001583	missense	144195				cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane	glucose transmembrane transporter activity	g.chr12:7982567G>A	AF481878	CCDS8585.1, CCDS66300.1, CCDS66301.1, CCDS66302.1	12p13.31	2013-07-15			ENSG00000173262	ENSG00000173262		"Solute carriers"	18301	protein-coding gene	gene with protein product		611039	"solute carrier family 2 (facilitated glucose transporter), member 3 pseudogene 3"	SLC2A3P3		12504846	Standard	NM_001286234		Approved	GLUT14	uc001qtn.3	Q8TDB8	OTTHUMG00000168463	ENST00000543909.1:c.377C>T	12.37:g.7982567G>A	ENSP00000440480:p.Ala126Val					SLC2A14_ENST00000340749.5_Missense_Mutation_p.A103V|SLC2A14_ENST00000396589.2_Missense_Mutation_p.A126V|SLC2A14_ENST00000542546.1_Missense_Mutation_p.A17V|SLC2A14_ENST00000539924.1_Missense_Mutation_p.A141V|SLC2A14_ENST00000431042.2_Missense_Mutation_p.A103V|SLC2A14_ENST00000535295.1_Missense_Mutation_p.A17V|SLC2A14_ENST00000542505.1_Intron	p.A126V			Q8TDB8	GTR14_HUMAN		Kidney(36;0.0883)	10	1136	-			126					B3KVB5|B3KWW7|B7Z844|B7ZAC3|Q6UY84|Q8TDB9	Missense_Mutation	SNP	ENST00000543909.1	37	c.377C>T	CCDS8585.1	4	0.0018315018315018315	4	0.008130081300813009	0	0.0	0	0.0	0	0.0	g	0.809	-0.752646	0.03041	0.001816	2.33E-4	ENSG00000173262	ENST00000340749;ENST00000543909;ENST00000431042;ENST00000396589;ENST00000535295;ENST00000542546;ENST00000539924;ENST00000546234;ENST00000542782;ENST00000535344;ENST00000537557	T;T;T;T;T;T;T;T;T;T;T	0.70164	-0.46;-0.46;-0.46;-0.46;-0.46;-0.46;-0.46;-0.46;-0.46;-0.46;-0.46	3.11	1.93	0.25924	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.845509	0.10675	N	0.647105	T	0.23171	0.0560	N	0.00754	-1.215	0.09310	N	1	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.04013	0.001;0.001;0.0;0.001	T	0.20605	-1.0270	10	0.13853	T	0.58	.	6.7344	0.23401	0.8739:0.0:0.1261:0.0	.	141;17;103;126	B7ZAC3;B7Z844;Q8TDB8-2;Q8TDB8	.;.;.;GTR14_HUMAN	V	103;126;103;126;17;17;141;103;103;103;126	ENSP00000340450:A103V;ENSP00000440480:A126V;ENSP00000407287:A103V;ENSP00000379834:A126V;ENSP00000440492:A17V;ENSP00000443903:A17V;ENSP00000445929:A141V;ENSP00000440043:A103V;ENSP00000438312:A103V;ENSP00000443217:A103V;ENSP00000440044:A126V	ENSP00000340450:A103V	A	-	2	0	SLC2A14	7873834	0.741000	0.28217	0.000000	0.03702	0.018000	0.09664	6.492000	0.73654	0.214000	0.20742	-0.606000	0.04082	GCC		0.478	SLC2A14-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000399836.2	NM_153449		3	69	0	0	0	1	0	3	69					A	7982567	G	A	7982567	3	1	20	1	0	0	0	0	1	0	0	0	14543	1203	42	3	1213	3	SLC2A14	12	7982567	Missense_Mutation	SNP	G	TCGA-CH-5746-01A-11D-1576-08		7982567	125869328	17	811											
SLCO1B1	10599	broad.mit.edu	37	chr12	21350054	21350054	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtctttgcatgtgctggaaaCaaatgatgaaaaggatcaaa	16	10	10	5	0	2	2	1	2	1	0	2	4	2	4	0	2	3	2	0	2	5	1			TCGA-CH-5746-01A-11D-1576-08	TCGA-CH-5746-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96a30919-cafe-43b9-9f46-226a8a38d246	040ca048-b608-4268-968c-2d436e9293cd	g.chr12:21350054C>A	ENST00000256958.2	+	8	998	c.902C>A	c.(901-903)aCa>aAa	p.T301K		NM_006446.4	NP_006437.3	Q9Y6L6	SO1B1_HUMAN	solute carrier organic anion transporter family, member 1B1	301					bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|organic anion transport (GO:0015711)|small molecule metabolic process (GO:0044281)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	sodium-independent organic anion transmembrane transporter activity (GO:0015347)	p.T301K(1)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	70					Acetylcysteine(DB06151)|Aminohippurate(DB00345)|Atorvastatin(DB01076)|Axitinib(DB06626)|Benzylpenicillin(DB01053)|Bezafibrate(DB01393)|Cabazitaxel(DB06772)|Caspofungin(DB00520)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Dabrafenib(DB08912)|Dextrothyroxine(DB00509)|Digoxin(DB00390)|Dinoprostone(DB00917)|Eltrombopag(DB06210)|Estradiol(DB00783)|Estrone(DB00655)|Ezetimibe(DB00973)|Fexofenadine(DB00950)|Fluvastatin(DB01095)|Gadoxetate(DB08884)|Gemfibrozil(DB01241)|Indinavir(DB00224)|Irinotecan(DB00762)|L-Carnitine(DB00583)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)|Lovastatin(DB00227)|Methotrexate(DB00563)|Mycophenolate mofetil(DB00688)|Nelfinavir(DB00220)|Olmesartan(DB00275)|Ouabain(DB01092)|Pantoprazole(DB00213)|Pazopanib(DB06589)|Penicillamine(DB00859)|Pioglitazone(DB01132)|Pitavastatin(DB08860)|Pravastatin(DB00175)|Quinidine(DB00908)|Repaglinide(DB00912)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|SIMEPREVIR(DB06290)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sumatriptan(DB00669)|Valsartan(DB00177)|Verapamil(DB00661)	GTGCTGGAAACAAATGATGAA	0.328																																						ENST00000256958.2																			1	Substitution - Missense(1)	p.T301K(1)	prostate(1)	breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	70						c.(901-903)aCa>aAa		solute carrier organic anion transporter family, member 1B1	Digoxin(DB00390)|Gemfibrozil(DB01241)|Pravastatin(DB00175)						101	97	98					12																	21350054		2203	4300	6503	SO:0001583	missense	10599				bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|integral to plasma membrane|membrane fraction	bile acid transmembrane transporter activity|sodium-independent organic anion transmembrane transporter activity|thyroid hormone transmembrane transporter activity	g.chr12:21350054C>A		CCDS8685.1	12p12	2013-05-22	2003-11-25	2003-11-26	ENSG00000134538	ENSG00000134538		"Solute carriers"	10959	protein-coding gene	gene with protein product		604843	"solute carrier family 21 (organic anion transporter), member 6"	SLC21A6		10358072	Standard	NM_006446		Approved	OATP-C, LST-1, OATP1B1	uc001req.4	Q9Y6L6	OTTHUMG00000169047	ENST00000256958.2:c.902C>A	12.37:g.21350054C>A	ENSP00000256958:p.Thr301Lys						p.T301K	NM_006446.4	NP_006437.3	Q9Y6L6	SO1B1_HUMAN			8	998	+			301					B2R7G2|Q29R64|Q9NQ37|Q9UBF3|Q9UH89	Missense_Mutation	SNP	ENST00000256958.2	37	c.902C>A	CCDS8685.1	.	.	.	.	.	.	.	.	.	.	C	7.166	0.586714	0.13749	.	.	ENSG00000134538	ENST00000256958	T	0.56444	0.46	3.08	2.15	0.27550	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	2.278740	0.01658	N	0.024928	T	0.48077	0.1480	L	0.43152	1.355	0.09310	N	1	B	0.14438	0.01	B	0.27608	0.081	T	0.25222	-1.0138	10	0.14656	T	0.56	.	8.5032	0.33170	0.5588:0.4412:0.0:0.0	.	301	Q9Y6L6	SO1B1_HUMAN	K	301	ENSP00000256958:T301K	ENSP00000256958:T301K	T	+	2	0	SLCO1B1	21241321	0.293000	0.24371	0.168000	0.22838	0.079000	0.17450	1.264000	0.33015	0.578000	0.29487	0.313000	0.20887	ACA		0.328	SLCO1B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402070.1	NM_006446		30	122	1	0	9.39395e-14	1	1.18095e-13	30	122					A	21350054	C	A	21350054	3	1	20	1	0	0	0	0	1	0	0	0	14723	478	17	5	928	5	SLCO1B1	12	21350054	Missense_Mutation	SNP	C	TCGA-CH-5746-01A-11D-1576-08	13367487	21350054	112501841	18	812											
GALNT4	8693	broad.mit.edu	37	chr12	89917323	89917323	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	acagctcaaggttttcacctCcccacacttccattcctgtg	8	12	5	16	0	2	0	2	0	0	0	5	0	5	0	5	1	1	2	5	1	1	4			TCGA-CH-5746-01A-11D-1576-08	TCGA-CH-5746-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96a30919-cafe-43b9-9f46-226a8a38d246	040ca048-b608-4268-968c-2d436e9293cd	g.chr12:89917323C>G	ENST00000529983.2	-	1	1260	c.1004G>C	c.(1003-1005)gGa>gCa	p.G335A	POC1B_ENST00000549035.1_Intron|RP11-734K2.4_ENST00000605233.1_RNA|POC1B-GALNT4_ENST00000547474.1_3'UTR|POC1B_ENST00000549504.1_Intron|POC1B-GALNT4_ENST00000548729.1_Missense_Mutation_p.G332A|POC1B_ENST00000313546.3_Intron|GALNT4_ENST00000413530.1_Missense_Mutation_p.G163A|POC1B_ENST00000541909.1_Intron|POC1B_ENST00000393179.4_Intron	NM_003774.4	NP_003765.2	Q8N4A0	GALT4_HUMAN	polypeptide N-acetylgalactosaminyltransferase 4	335	Catalytic subdomain B.				carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)	p.G335A(1)		endometrium(4)|kidney(2)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)	14						GTTTTCACCTCCCCACACTTC	0.522																																						ENST00000548729.1																			1	Substitution - Missense(1)	p.G335A(1)	prostate(1)								c.(994-996)gGa>gCa									180	183	182					12																	89917323		2037	4204	6241	SO:0001583	missense	0							g.chr12:89917323C>G	Y08564	CCDS53817.1	12q21.33	2014-03-13	2014-03-13		ENSG00000257594	ENSG00000257594	2.4.1.41	"Glycosyltransferase family 2 domain containing"	4126	protein-coding gene	gene with protein product	"polypeptide GalNAc transferase 4"	603565	"UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 4 (GalNAc-T4)"			9804815	Standard	NM_003774		Approved	GalNAc-T4	uc001tbd.3	Q8N4A0	OTTHUMG00000166292	ENST00000529983.2:c.1004G>C	12.37:g.89917323C>G	ENSP00000436604:p.Gly335Ala					POC1B-GALNT4_ENST00000413530.1_Missense_Mutation_p.G163A|POC1B_ENST00000393179.4_Intron|POC1B-GALNT4_ENST00000547474.1_3'UTR|POC1B_ENST00000549504.1_Intron|GALNT4_ENST00000529983.2_Missense_Mutation_p.G335A|POC1B_ENST00000541909.1_Intron|POC1B_ENST00000313546.3_Intron|POC1B_ENST00000549035.1_Intron	p.G332A	NM_001199781.1|NM_001199782.1	NP_001186710.1|NP_001186711.1					3	1297	-								B2R775|B4DMX6|O00208	Missense_Mutation	SNP	ENST00000529983.2	37	c.995G>C	CCDS53817.1	.	.	.	.	.	.	.	.	.	.	C	24.1	4.491033	0.84962	.	.	ENSG00000259075;ENSG00000259075;ENSG00000257594	ENST00000548729;ENST00000413530;ENST00000529983	T;D;T	0.96136	-0.26;-3.92;-0.26	5.84	5.84	0.93424	.	.	.	.	.	D	0.98679	0.9557	H	0.96691	3.865	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.99383	1.0923	9	0.87932	D	0	.	19.1417	0.93448	0.0:1.0:0.0:0.0	.	332;335	F8VUJ3;Q8N4A0	.;GALT4_HUMAN	A	332;163;335	ENSP00000447852:G332A;ENSP00000389686:G163A;ENSP00000436604:G335A	ENSP00000436604:G335A	G	-	2	0	GALNT4;RP11-1109F11.4	88441454	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.760000	0.85248	2.764000	0.94973	0.650000	0.86243	GGA		0.522	GALNT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388973.2	NM_003774		42	257	0	0	0	1	0	42	257					G	89917323	C	G	89917323	3	3	20	1	0	0	0	0	1	0	0	0	6215	855	30	5	736	5	GALNT4	12	89917323	Missense_Mutation	SNP	C	TCGA-CH-5746-01A-11D-1576-08	68567269	89917323	43934572	19	813											
SIP1	8487	broad.mit.edu	37	chr14	39601187	39601188	+	Frame_Shift_Ins	INS	-	-	T																															tggctttatgctttattggcINSttgtcttgaaaagcctttgt																										TCGA-CH-5746-01A-11D-1576-08	TCGA-CH-5746-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96a30919-cafe-43b9-9f46-226a8a38d246	040ca048-b608-4268-968c-2d436e9293cd	g.chr14:39601187_39601188insT	ENST00000308317.6	+	8	742_743	c.659_660insT	c.(658-663)gcttgtfs	p.C221fs	GEMIN2_ENST00000396249.2_Frame_Shift_Ins_p.C221fs|GEMIN2_ENST00000250379.8_Frame_Shift_Ins_p.C206fs	NM_003616.2	NP_003607.1	O14893	GEMI2_HUMAN	gem (nuclear organelle) associated protein 2	221					gene expression (GO:0010467)|mRNA processing (GO:0006397)|ncRNA metabolic process (GO:0034660)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)|spliceosomal complex assembly (GO:0000245)|spliceosomal snRNP assembly (GO:0000387)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMN complex (GO:0032797)|SMN-Sm protein complex (GO:0034719)|spliceosomal complex (GO:0005681)											GCTTTATTGGCTTGTCTTGAAA	0.351																																						ENST00000308317.6																			0											c.(658-660)gtgfs		gem (nuclear organelle) associated protein 2																																				SO:0001589	frameshift_variant	8487				ncRNA metabolic process|spliceosomal snRNP assembly|spliceosome assembly	Cajal body|cytosol|spliceosomal complex	protein binding	g.chr14:39601187_39601188insT	AF027150	CCDS9669.1, CCDS32068.1, CCDS41946.1	14q21.1	2011-08-04	2011-08-04	2011-08-04	ENSG00000092208	ENSG00000092208			10884	protein-coding gene	gene with protein product		602595	"survival of motor neuron protein interacting protein 1"	SIP1		9323130, 9323129, 11121410	Standard	NM_003616		Approved		uc001wuq.3	O14893	OTTHUMG00000028816	ENST00000308317.6:c.661dupT	14.37:g.39601189_39601189dupT	ENSP00000308533:p.Cys221fs					GEMIN2_ENST00000396249.2_Frame_Shift_Ins_p.V220fs|GEMIN2_ENST00000250379.8_Frame_Shift_Ins_p.V205fs	p.V220fs	NM_003616.2	NP_003607.1	O14893	GEMI2_HUMAN			8	742_743	+			220					B2R9W8|Q2M3B3|Q9H4F5|Q9NS77|Q9NS78|Q9NS79	Frame_Shift_Ins	INS	ENST00000308317.6	37	c.659_660insT	CCDS9669.1																																																																																				0.351	GEMIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276730.2			11	381						11	381	---	---	---	---	T	39601188	-	T	39601187	7	5	20	1	0	1	1	0	0	0	0	0	14327	797	28	0	689	0	SIP1	14	39601187	Frame_Shift_Ins	INS	-	TCGA-CH-5746-01A-11D-1576-08		39601187	67748353	20	814											
CLMN	79789	broad.mit.edu	37	chr14	95670748	95670748	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cagaaggagtttctttgatgCgaacaaaagtggattcgata	14	11	11	5	2	1	2	0	1	1	1	2	6	1	4	0	2	2	1	0	2	5	4	rs145924471		TCGA-CH-5746-01A-11D-1576-08	TCGA-CH-5746-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96a30919-cafe-43b9-9f46-226a8a38d246	040ca048-b608-4268-968c-2d436e9293cd	g.chr14:95670748C>T	ENST00000298912.4	-	9	1051	c.938G>A	c.(937-939)cGc>cAc	p.R313H		NM_024734.3	NP_079010.2	Q96JQ2	CLMN_HUMAN	calmin (calponin-like, transmembrane)	313					negative regulation of cell proliferation (GO:0008285)|neuron projection development (GO:0031175)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)		p.R313H(1)		central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(17)|prostate(3)|skin(3)	44				Epithelial(152;0.193)		TTCTTTGATGCGAACAAAAGT	0.373																																						ENST00000298912.4																			1	Substitution - Missense(1)	p.R313H(1)	prostate(1)	central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(17)|prostate(3)|skin(3)	44						c.(937-939)cGc>cAc		calmin (calponin-like, transmembrane)		C	HIS/ARG	2,4404	4.2+/-10.8	0,2,2201	91	96	95		938	2.9	1	14	dbSNP_134	95	0,8600		0,0,4300	no	missense	CLMN	NM_024734.3	29	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	possibly-damaging	313/1003	95670748	2,13004	2203	4300	6503	SO:0001583	missense	79789					integral to membrane	actin binding	g.chr14:95670748C>T	AB033014	CCDS9933.1	14q32.13	2012-10-02			ENSG00000165959	ENSG00000165959			19972	protein-coding gene	gene with protein product		611121				11386753	Standard	NM_024734		Approved	FLJ12383, KIAA1188, KIAA0500	uc001yef.2	Q96JQ2	OTTHUMG00000171629	ENST00000298912.4:c.938G>A	14.37:g.95670748C>T	ENSP00000298912:p.Arg313His						p.R313H	NM_024734.3	NP_079010.2	Q96JQ2	CLMN_HUMAN		Epithelial(152;0.193)	9	1051	-			313					B2RAR7|Q9H713|Q9HA23|Q9HA57|Q9UFP4|Q9ULN2	Missense_Mutation	SNP	ENST00000298912.4	37	c.938G>A	CCDS9933.1	.	.	.	.	.	.	.	.	.	.	C	14.42	2.531008	0.45073	4.54E-4	0.0	ENSG00000165959	ENST00000298912	D	0.93307	-3.2	5.64	2.86	0.33363	.	0.354493	0.20869	N	0.084216	D	0.87156	0.6107	L	0.52364	1.645	0.80722	D	1	P	0.45715	0.865	B	0.36766	0.232	T	0.81393	-0.0953	10	0.25106	T	0.35	.	6.0299	0.19675	0.0:0.5391:0.0:0.4608	.	313	Q96JQ2	CLMN_HUMAN	H	313	ENSP00000298912:R313H	ENSP00000298912:R313H	R	-	2	0	CLMN	94740501	1.000000	0.71417	0.995000	0.50966	0.737000	0.42083	0.987000	0.29603	0.753000	0.32945	0.655000	0.94253	CGC		0.373	CLMN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414518.2			4	174	0	0	0	1	0	4	174					T	95670748	C	T	95670748	3	4	20	1	0	0	0	0	1	0	0	0	3542	768	27	1	2090	1	CLMN	14	95670748	Missense_Mutation	SNP	C	TCGA-CH-5746-01A-11D-1576-08	56069561	95670748	11678792	21	815											
NOX5	79400	broad.mit.edu	37	chr15	69348910	69348910	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ccccactgactccaggtgttCcagaaagtggctgctgagaa	10	8	11	12	0	0	3	0	2	0	2	2	4	2	3	4	2	1	3	4	2	2	1			TCGA-CH-5746-01A-11D-1576-08	TCGA-CH-5746-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96a30919-cafe-43b9-9f46-226a8a38d246	040ca048-b608-4268-968c-2d436e9293cd	g.chr15:69348910C>A	ENST00000388866.3	+	16	2213	c.2172C>A	c.(2170-2172)ttC>ttA	p.F724L	NOX5_ENST00000455873.3_Missense_Mutation_p.F689L|NOX5_ENST00000260364.5_Missense_Mutation_p.F706L|NOX5_ENST00000448182.3_Missense_Mutation_p.F678L|NOX5_ENST00000530406.2_Missense_Mutation_p.F696L	NM_001184779.1|NM_024505.3	NP_001171708.1|NP_078781.3	Q96PH1	NOX5_HUMAN	NADPH oxidase, EF-hand calcium binding domain 5	724					angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|cytokine secretion (GO:0050663)|cytokinesis (GO:0000910)|endothelial cell proliferation (GO:0001935)|oxidation-reduction process (GO:0055114)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|proton transport (GO:0015992)|regulation of fusion of sperm to egg plasma membrane (GO:0043012)|regulation of proton transport (GO:0010155)|superoxide anion generation (GO:0042554)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|flavin adenine dinucleotide binding (GO:0050660)|heme binding (GO:0020037)|hydrogen ion channel activity (GO:0015252)|NADP binding (GO:0050661)|superoxide-generating NADPH oxidase activity (GO:0016175)	p.F706L(1)		breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35						TCCAGGTGTTCCAGAAAGTGG	0.557																																						ENST00000260364.5																			1	Substitution - Missense(1)	p.F706L(1)	prostate(1)	breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35						c.(2116-2118)ttC>ttA		NADPH oxidase, EF-hand calcium binding domain 5							86	82	84					15																	69348910		2200	4298	6498	SO:0001583	missense	79400				angiogenesis|cytokine secretion|cytokinesis|electron transport chain|endothelial cell proliferation|induction of apoptosis|positive regulation of reactive oxygen species metabolic process|regulation of fusion of sperm to egg plasma membrane|regulation of proton transport|superoxide anion generation	endoplasmic reticulum|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|hydrogen ion channel activity|NADP binding|superoxide-generating NADPH oxidase activity	g.chr15:69348910C>A	AF317889	CCDS32276.1, CCDS32276.2, CCDS53953.1, CCDS53954.1	15q22.31	2013-01-10			ENSG00000255346	ENSG00000255346		"EF-hand domain containing"	14874	protein-coding gene	gene with protein product		606572				11483596	Standard	NM_001184779		Approved	NOX5A, NOX5B	uc002ars.2	Q96PH1	OTTHUMG00000133320	ENST00000388866.3:c.2172C>A	15.37:g.69348910C>A	ENSP00000373518:p.Phe724Leu					NOX5_ENST00000388866.3_Missense_Mutation_p.F724L|NOX5_ENST00000455873.3_Missense_Mutation_p.F689L|NOX5_ENST00000530406.2_Missense_Mutation_p.F696L|NOX5_ENST00000448182.3_Missense_Mutation_p.F678L	p.F706L			Q96PH1	NOX5_HUMAN			17	2419	+			724					B2RBJ4|Q08AN2|Q08AN3|Q8TEQ1|Q8TER4|Q96PH2|Q96PJ8|Q96PJ9|Q9H6E0|Q9HAM8	Missense_Mutation	SNP	ENST00000388866.3	37	c.2118C>A	CCDS32276.2	.	.	.	.	.	.	.	.	.	.	C	9.647	1.140587	0.21205	.	.	ENSG00000255346	ENST00000455873;ENST00000448182;ENST00000388866;ENST00000530406	D;D;D	0.93307	-3.2;-3.2;-3.2	3.41	3.41	0.39046	Ferric reductase, NAD binding (1);	0.071563	0.56097	U	0.000033	D	0.88485	0.6449	L	0.42581	1.335	0.43857	D	0.996453	B;B;B	0.29162	0.02;0.235;0.02	B;B;B	0.26094	0.027;0.066;0.027	D	0.85413	0.1138	10	0.30854	T	0.27	.	10.6097	0.45415	0.0:0.8025:0.1975:0.0	.	689;724;696	Q96PH1-6;Q96PH1;Q96PH1-3	.;NOX5_HUMAN;.	L	689;706;724;696	ENSP00000416828:F689L;ENSP00000373518:F724L;ENSP00000432440:F696L	ENSP00000373518:F724L	F	+	3	2	NOX5	67135964	1.000000	0.71417	0.998000	0.56505	0.407000	0.30961	0.641000	0.24720	1.746000	0.51805	0.505000	0.49811	TTC		0.557	NOX5-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000257124.2	NM_024505		26	145	1	0	1.22384e-17	1	1.58379e-17	26	145					A	69348910	C	A	69348910	3	1	20	1	0	0	0	0	1	0	0	0	10559	854	30	5	2267	5	NOX5	15	69348910	Missense_Mutation	SNP	C	TCGA-CH-5746-01A-11D-1576-08		69348910	33182482	22	816											
C16orf62	57020	broad.mit.edu	37	chr16	19661780	19661780	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaagacagctgcatttgtccGggtatgttcttaagataagg	12	12	11	6	1	1	2	0	0	1	2	2	2	2	2	1	2	2	4	1	2	4	5			TCGA-CH-5746-01A-11D-1576-08	TCGA-CH-5746-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96a30919-cafe-43b9-9f46-226a8a38d246	040ca048-b608-4268-968c-2d436e9293cd	g.chr16:19661780G>A	ENST00000251143.5	+	25	2117	c.2105G>A	c.(2104-2106)cGg>cAg	p.R702Q	C16orf62_ENST00000448695.1_Splice_Site_p.R552Q|C16orf62_ENST00000543152.1_Splice_Site_p.R451Q|C16orf62_ENST00000544275.1_3'UTR|C16orf62_ENST00000438132.3_Splice_Site_p.R791Q|C16orf62_ENST00000542263.1_Intron|C16orf62_ENST00000417362.2_Intron			Q7Z3J2	CP062_HUMAN	chromosome 16 open reading frame 62	702						integral component of membrane (GO:0016021)		p.R702Q(1)|p.R791Q(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	36						GCATTTGTCCGGGTATGTTCT	0.378																																						ENST00000438132.3																			2	Substitution - Missense(2)	p.R702Q(1)|p.R791Q(1)	prostate(2)	breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	36						c.e25+1		chromosome 16 open reading frame 62							104	104	104					16																	19661780		2197	4300	6497	SO:0001630	splice_region_variant	57020					integral to membrane		g.chr16:19661780G>A		CCDS32397.1, CCDS32397.2, CCDS73840.1	16p12.3	2012-05-30			ENSG00000103544	ENSG00000103544			24641	protein-coding gene	gene with protein product						10493829	Standard	NM_020314		Approved	MGC16824	uc002dgn.3	Q7Z3J2	OTTHUMG00000167925	ENST00000251143.5:c.2106+1G>A	16.37:g.19661780G>A						C16orf62_ENST00000251143.5_Splice_Site_p.R702_splice|C16orf62_ENST00000543152.1_Splice_Site_p.R451_splice|C16orf62_ENST00000542263.1_Intron|C16orf62_ENST00000544275.1_3'UTR|C16orf62_ENST00000448695.1_Splice_Site_p.R552_splice|C16orf62_ENST00000417362.2_Intron	p.R791_splice	NM_020314.5	NP_064710.4	Q7Z3J2	CP062_HUMAN			25	2420	+			702					A8K2M1|O43329|Q69YI1|Q6PDA0|Q7L371|Q86W66|Q8WXA5|Q9H0L7|Q9H7C8	Splice_Site	SNP	ENST00000251143.5	37	c.2373_splice		.	.	.	.	.	.	.	.	.	.	G	33	5.253721	0.95336	.	.	ENSG00000103544	ENST00000438132;ENST00000251143;ENST00000448695	T;T;T	0.61274	0.12;0.12;0.12	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.78162	0.4240	M	0.79926	2.475	0.80722	D	1	D	0.76494	0.999	D	0.77557	0.99	T	0.77230	-0.2664	9	.	.	.	-26.7973	18.3732	0.90420	0.0:0.0:1.0:0.0	.	702	Q7Z3J2	CP062_HUMAN	Q	791;702;552	ENSP00000400815:R791Q;ENSP00000251143:R702Q;ENSP00000398009:R552Q	.	R	+	2	0	C16orf62	19569281	1.000000	0.71417	1.000000	0.80357	0.570000	0.35934	7.328000	0.79160	2.941000	0.99782	0.655000	0.94253	CGG		0.378	C16orf62-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_020314	Missense_Mutation	4	186	0	0	0	1	0	4	186					A	19661780	G	A	19661780	5	1	20	1	0	0	0	0	0	0	1	0	1825	1130	39	2	2203	2	C16orf62	16	19661780	Splice_Site	SNP	G	TCGA-CH-5746-01A-11D-1576-08		19661780	70692973	23	817											
LRRC36	55282	broad.mit.edu	37	chr16	67375899	67375899	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	attgcagggatcttatgctgGcaaaatccattccattggtg	10	13	10	8	0	1	0	0	0	1	0	3	1	3	1	2	3	2	3	2	3	3	4			TCGA-CH-5746-01A-11D-1576-08	TCGA-CH-5746-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96a30919-cafe-43b9-9f46-226a8a38d246	040ca048-b608-4268-968c-2d436e9293cd	g.chr16:67375899G>A	ENST00000329956.6	+	2	129	c.110G>A	c.(109-111)gGc>gAc	p.G37D	LRRC36_ENST00000563303.1_Intron	NM_018296.5	NP_060766.5	Q1X8D7	LRC36_HUMAN	leucine rich repeat containing 36	37								p.G37D(1)		endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	24		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0669)|Epithelial(162;0.161)		TCTTATGCTGGCAAAATCCAT	0.378																																						ENST00000329956.6																			1	Substitution - Missense(1)	p.G37D(1)	prostate(1)	endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	24						c.(109-111)gGc>gAc		leucine rich repeat containing 36							122	117	119					16																	67375899		2198	4300	6498	SO:0001583	missense	55282							g.chr16:67375899G>A	BC026156	CCDS32467.1, CCDS58474.1	16q22.1	2008-02-05				ENSG00000159708			25615	protein-coding gene	gene with protein product						12477932	Standard	NM_001161575		Approved	FLJ11004	uc002esv.3	Q1X8D7		ENST00000329956.6:c.110G>A	16.37:g.67375899G>A	ENSP00000329943:p.Gly37Asp					LRRC36_ENST00000563303.1_Intron	p.G37D	NM_018296.5	NP_060766.5	Q1X8D7	LRC36_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0669)|Epithelial(162;0.161)	2	129	+		Ovarian(137;0.192)	37					A4FTV6|A6NDE9|A8K8E6|Q7Z5K5	Missense_Mutation	SNP	ENST00000329956.6	37	c.110G>A	CCDS32467.1	.	.	.	.	.	.	.	.	.	.	G	13.85	2.360169	0.41801	.	.	ENSG00000159708	ENST00000329956	T	0.06608	3.28	5.55	5.55	0.83447	.	0.143109	0.46758	D	0.000280	T	0.10078	0.0247	N	0.05306	-0.075	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.52457	-0.8573	10	0.29301	T	0.29	-11.0739	15.0199	0.71621	0.0:0.0:1.0:0.0	.	37	Q1X8D7	LRC36_HUMAN	D	37	ENSP00000329943:G37D	ENSP00000329943:G37D	G	+	2	0	LRRC36	65933400	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.760000	0.62235	2.614000	0.88457	0.563000	0.77884	GGC		0.378	LRRC36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421770.1	NM_018296		4	159	0	0	0	1	0	4	159					A	67375899	G	A	67375899	3	1	20	1	0	0	0	0	1	0	0	0	8990	1203	42	3	116	3	LRRC36	16	67375899	Missense_Mutation	SNP	G	TCGA-CH-5746-01A-11D-1576-08	47714119	67375899	22978854	24	818											
PRKCSH	5589	broad.mit.edu	37	chr19	11558391	11558391	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaagaagaggctgaagaagaGgaggaggaggaggattccga	16	3	19	3	1	0	5	0	1	0	4	1	12	1	10	1	6	0	1	1	6	4	1			TCGA-CH-5746-01A-11D-1576-08	TCGA-CH-5746-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96a30919-cafe-43b9-9f46-226a8a38d246	040ca048-b608-4268-968c-2d436e9293cd	g.chr19:11558391G>A	ENST00000589838.1	+	10	987	c.987G>A	c.(985-987)gaG>gaA	p.E329E	PRKCSH_ENST00000591462.1_Silent_p.E329E|PRKCSH_ENST00000252455.2_Silent_p.E329E|PRKCSH_ENST00000592741.1_Silent_p.E329E|PRKCSH_ENST00000412601.1_Silent_p.E329E|PRKCSH_ENST00000587327.1_Silent_p.E329E			P14314	GLU2B_HUMAN	protein kinase C substrate 80K-H	329	Glu-rich (acidic).				cellular protein metabolic process (GO:0044267)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|liver development (GO:0001889)|N-glycan processing (GO:0006491)|negative regulation of neuron projection development (GO:0010977)|nitrogen compound metabolic process (GO:0006807)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein heterooligomerization (GO:0051291)|protein N-linked glycosylation via asparagine (GO:0018279)|renal system development (GO:0072001)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|intracellular (GO:0005622)	calcium ion binding (GO:0005509)|ion channel binding (GO:0044325)|phosphoprotein binding (GO:0051219)|protein kinase C binding (GO:0005080)|RNA binding (GO:0003723)	p.E329E(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|prostate(3)	19						ctgaagaagaggaggaggagg	0.632																																						ENST00000252455.2																			1	Substitution - coding silent(1)	p.E329E(1)	prostate(1)	breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|prostate(3)	19						c.(985-987)gaG>gaA		protein kinase C substrate 80K-H							23	23	23					19																	11558391		2201	4298	6499	SO:0001819	synonymous_variant	5589				innate immune response|intracellular protein kinase cascade|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen	calcium ion binding|protein kinase C binding	g.chr19:11558391G>A		CCDS32911.1, CCDS45977.1, CCDS74286.1	19p13.2	2014-01-30			ENSG00000130175	ENSG00000130175	2.7.11.1	"EF-hand domain containing"	9411	protein-coding gene	gene with protein product		177060	"polycystic liver disease"	G19P1, PCLD, PLD1		12529853	Standard	NM_002743		Approved		uc002mrt.3	P14314	OTTHUMG00000182029	ENST00000589838.1:c.987G>A	19.37:g.11558391G>A						PRKCSH_ENST00000591462.1_Silent_p.E329E|PRKCSH_ENST00000589838.1_Silent_p.E329E|PRKCSH_ENST00000412601.1_Silent_p.E329E|PRKCSH_ENST00000587327.1_Silent_p.E329E|PRKCSH_ENST00000592741.1_Silent_p.E329E	p.E329E	NM_002743.2	NP_002734.2	P14314	GLU2B_HUMAN			11	1323	+			329			Glu-rich (acidic).		A8K318|Q96BU9|Q96D06|Q9P0W9	Silent	SNP	ENST00000589838.1	37	c.987G>A	CCDS32911.1																																																																																				0.632	PRKCSH-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000458817.1			3	11	0	0	0	1	0	3	11					A	11558391	G	A	11558391	2	1	20	1	0	0	0	0	0	0	0	1	12516	991	35	3		3	PRKCSH	19	11558391	Silent	SNP	G	TCGA-CH-5746-01A-11D-1576-08		11558391	47570592	25	819											
HRC	3270	broad.mit.edu	37	chr19	49656664	49656664	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caccagcccaggccacttacCtgtgtcctcaccgctttcct	6	10	6	19	1	1	0	1	0	0	0	3	0	3	0	7	1	2	1	7	1	1	2			TCGA-CH-5746-01A-11D-1576-08	TCGA-CH-5746-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96a30919-cafe-43b9-9f46-226a8a38d246	040ca048-b608-4268-968c-2d436e9293cd	g.chr19:49656664C>A	ENST00000252825.4	-	1	2017	c.1831G>T	c.(1831-1833)Ggt>Tgt	p.G611C	HRC_ENST00000595625.1_Splice_Site_p.G611C	NM_002152.2	NP_002143.1	P23327	SRCH_HUMAN	histidine rich calcium binding protein	611					cytosolic calcium ion homeostasis (GO:0051480)|muscle contraction (GO:0006936)|positive regulation of heart contraction (GO:0045823)|positive regulation of heart rate (GO:0010460)|positive regulation of relaxation of cardiac muscle (GO:1901899)|regulation of calcium ion transmembrane transport (GO:1903169)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cell communication by electrical coupling involved in cardiac conduction (GO:1901844)|regulation of heart rate (GO:0002027)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)	sarcoplasmic reticulum lumen (GO:0033018)|sarcoplasmic reticulum membrane (GO:0033017)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|calcium ion binding (GO:0005509)|ion channel binding (GO:0044325)	p.G611C(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(10)|lung(10)|ovary(1)|prostate(3)|urinary_tract(2)	34		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.01e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.00019)|GBM - Glioblastoma multiforme(486;0.00279)|Epithelial(262;0.00622)		GGCCACTTACCTGTGTCCTCA	0.632																																					Melanoma(37;75 1097 24567 25669 30645)	ENST00000252825.4																			1	Substitution - Missense(1)	p.G611C(1)	prostate(1)	endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(10)|lung(10)|ovary(1)|prostate(3)|urinary_tract(2)	34						c.e1+1		histidine rich calcium binding protein							92	76	82					19																	49656664		2203	4300	6503	SO:0001630	splice_region_variant	3270				muscle contraction	sarcoplasmic reticulum lumen	calcium ion binding	g.chr19:49656664C>A		CCDS12759.1	19q13.3	2008-07-16	2001-11-28			ENSG00000130528			5178	protein-coding gene	gene with protein product		142705	"histidine-rich calcium-binding protein"			2037293	Standard	XR_243928		Approved	MGC133236	uc002pmv.3	P23327		ENST00000252825.4:c.1831+1G>T	19.37:g.49656664C>A						HRC_ENST00000595625.1_Splice_Site_p.G611_splice	p.G611_splice	NM_002152.2	NP_002143.1	P23327	SRCH_HUMAN		all cancers(93;2.01e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.00019)|GBM - Glioblastoma multiforme(486;0.00279)|Epithelial(262;0.00622)	1	2017	-		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)	611					Q504Y6	Splice_Site	SNP	ENST00000252825.4	37	c.1831_splice	CCDS12759.1	.	.	.	.	.	.	.	.	.	.	C	15.87	2.960315	0.53400	.	.	ENSG00000130528	ENST00000252825;ENST00000391863	T	0.51325	0.71	3.01	3.01	0.34805	.	.	.	.	.	T	0.49474	0.1559	L	0.51422	1.61	0.39039	D	0.960086	D	0.63046	0.992	P	0.52710	0.707	T	0.50659	-0.8802	8	.	.	.	-3.5834	9.7229	0.40313	0.0:1.0:0.0:0.0	.	611	P23327	SRCH_HUMAN	C	611;301	ENSP00000252825:G611C	.	G	-	1	0	HRC	54348476	0.954000	0.32549	0.966000	0.40874	0.624000	0.37722	2.584000	0.46102	2.016000	0.59253	0.563000	0.77884	GGT		0.632	HRC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465649.1	NM_002152	Missense_Mutation	3	72	1	0	1	1	1	3	72					A	49656664	C	A	49656664	5	1	20	1	0	0	0	0	0	0	1	0	7352	695	24	5	292	5	HRC	19	49656664	Splice_Site	SNP	C	TCGA-CH-5746-01A-11D-1576-08	38098273	49656664	9472319	26	820											
NCAM2	4685	broad.mit.edu	37	chr21	22849736	22849736	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agctgccaatagattgggatAttctgaaccgacagtttatg	12	12	10	7	1	1	2	0	1	1	1	1	4	1	3	2	1	3	2	2	1	5	6			TCGA-CH-5746-01A-11D-1576-08	TCGA-CH-5746-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96a30919-cafe-43b9-9f46-226a8a38d246	040ca048-b608-4268-968c-2d436e9293cd	g.chr21:22849736A>G	ENST00000400546.1	+	15	2270	c.2021A>G	c.(2020-2022)tAt>tGt	p.Y674C	NCAM2_ENST00000284894.7_Missense_Mutation_p.Y532C	NM_004540.3	NP_004531.2	O15394	NCAM2_HUMAN	neural cell adhesion molecule 2	674	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axonal fasciculation (GO:0007413)|neuron cell-cell adhesion (GO:0007158)|sensory perception of smell (GO:0007608)	axon (GO:0030424)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.Y674C(1)		breast(4)|cervix(2)|endometrium(8)|kidney(6)|large_intestine(22)|liver(4)|lung(49)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	108		Lung NSC(9;0.195)		all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174)		AGATTGGGATATTCTGAACCG	0.368																																						ENST00000400546.1																			1	Substitution - Missense(1)	p.Y674C(1)	prostate(1)	breast(4)|cervix(2)|endometrium(8)|kidney(6)|large_intestine(22)|liver(4)|lung(49)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	108						c.(2020-2022)tAt>tGt		neural cell adhesion molecule 2							91	85	87					21																	22849736		1871	4113	5984	SO:0001583	missense	4685				neuron cell-cell adhesion	integral to membrane|plasma membrane		g.chr21:22849736A>G		CCDS42910.1	21q21	2013-02-11			ENSG00000154654	ENSG00000154654		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	7657	protein-coding gene	gene with protein product		602040				9226371	Standard	NM_004540		Approved	NCAM21, MGC51008	uc002yld.2	O15394	OTTHUMG00000078121	ENST00000400546.1:c.2021A>G	21.37:g.22849736A>G	ENSP00000383392:p.Tyr674Cys					NCAM2_ENST00000284894.7_Missense_Mutation_p.Y532C	p.Y674C	NM_004540.3	NP_004531.2	O15394	NCAM2_HUMAN		all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174)	15	2270	+		Lung NSC(9;0.195)	674			Fibronectin type-III 2.		A8MQ06|B7Z841|Q7Z7F2	Missense_Mutation	SNP	ENST00000400546.1	37	c.2021A>G	CCDS42910.1	.	.	.	.	.	.	.	.	.	.	A	16.41	3.114208	0.56505	.	.	ENSG00000154654	ENST00000400546;ENST00000284894	T;T	0.53640	0.61;0.61	5.8	3.21	0.36854	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.202352	0.45126	D	0.000390	T	0.35682	0.0940	N	0.08118	0	0.80722	D	1	D;D	0.54397	0.966;0.966	P;P	0.52627	0.704;0.704	T	0.18116	-1.0347	10	0.40728	T	0.16	-18.2703	10.8739	0.46900	0.7994:0.0:0.0:0.2006	.	532;674	B7Z5K2;O15394	.;NCAM2_HUMAN	C	674;532	ENSP00000383392:Y674C;ENSP00000284894:Y532C	ENSP00000284894:Y532C	Y	+	2	0	NCAM2	21771607	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	1.972000	0.40540	2.213000	0.71641	0.528000	0.53228	TAT		0.368	NCAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000170915.1	NM_004540		21	129	0	0	0	1	0	21	129					G	22849736	A	G	22849736	3	3	20	1	0	0	0	0	1	0	0	0	10203	449	16	4	2079	4	NCAM2	21	22849736	Missense_Mutation	SNP	A	TCGA-CH-5746-01A-11D-1576-08		22849736	25280159	27	821											
GGT5	2687	broad.mit.edu	37	chr22	24622217	24622217	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgggccagggtctcccccagCaggtcccgggaggcattctg	5	7	15	14	1	2	0	0	0	2	0	4	1	3	1	4	5	1	2	4	5	0	1			TCGA-CH-5746-01A-11D-1576-08	TCGA-CH-5746-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96a30919-cafe-43b9-9f46-226a8a38d246	040ca048-b608-4268-968c-2d436e9293cd	g.chr22:24622217C>A	ENST00000327365.4	-	8	1472	c.1056G>T	c.(1054-1056)ctG>ctT	p.L352L	GGT5_ENST00000418439.2_Silent_p.L275L|GGT5_ENST00000263112.7_Silent_p.L320L|GGT5_ENST00000398292.3_Silent_p.L352L	NM_001099781.1|NM_004121.2	NP_001093251.1|NP_004112.2	P36269	GGT5_HUMAN	gamma-glutamyltransferase 5	352					arachidonic acid metabolic process (GO:0019369)|cellular amino acid metabolic process (GO:0006520)|glutathione biosynthetic process (GO:0006750)|glutathione metabolic process (GO:0006749)|inflammatory response (GO:0006954)|leukotriene biosynthetic process (GO:0019370)|leukotriene metabolic process (GO:0006691)|small molecule metabolic process (GO:0044281)	anchored component of external side of plasma membrane (GO:0031362)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	gamma-glutamyltransferase activity (GO:0003840)|glutathione hydrolase activity (GO:0036374)	p.L352L(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(3)|skin(3)	28						TCTCCCCCAGCAGGTCCCGGG	0.682																																						ENST00000327365.4																			1	Substitution - coding silent(1)	p.L352L(1)	prostate(1)	breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(3)|skin(3)	28						c.(1054-1056)ctG>ctT		gamma-glutamyltransferase 5							25	30	28					22																	24622217		2202	4297	6499	SO:0001819	synonymous_variant	2687				glutathione biosynthetic process|hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process	integral to membrane|plasma membrane	acyltransferase activity|gamma-glutamyltransferase activity	g.chr22:24622217C>A	M64099	CCDS13825.1, CCDS42989.1, CCDS42990.1	22q11.23	2008-03-25	2008-03-10	2008-03-10	ENSG00000099998	ENSG00000099998		"Gamma-glutamyltransferases"	4260	protein-coding gene	gene with protein product		137168	"gamma-glutamyltransferase-like activity 1"	GGTLA1		1676842, 8095916, 18357469	Standard	NM_004121		Approved	GGT-REL	uc002zzp.4	P36269	OTTHUMG00000150796	ENST00000327365.4:c.1056G>T	22.37:g.24622217C>A						GGT5_ENST00000263112.7_Silent_p.L320L|GGT5_ENST00000418439.2_Silent_p.L275L|GGT5_ENST00000398292.3_Silent_p.L352L	p.L352L	NM_001099781.1|NM_004121.2	NP_001093251.1|NP_004112.2	P36269	GGT5_HUMAN			8	1472	-			352					Q53XM9|Q6GMP0|Q96FC1|Q9UFM5	Silent	SNP	ENST00000327365.4	37	c.1056G>T	CCDS13825.1																																																																																				0.682	GGT5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000320119.1	NM_004121		3	52	1	0	1	1	1	3	52					A	24622217	C	A	24622217	2	1	20	1	0	0	0	0	0	0	0	1	6362	697	25	5		5	GGT5	22	24622217	Silent	SNP	C	TCGA-CH-5746-01A-11D-1576-08		24622217	26682349	28	822											
ACTRT1	139741	broad.mit.edu	37	chrX	127185764	127185764	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aggcatagagcgctgccaccGcatgattagacaggtagaaa	14	6	12	9	2	0	4	0	1	0	3	0	4	0	4	2	2	2	4	2	2	4	3			TCGA-CH-5746-01A-11D-1576-08	TCGA-CH-5746-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96a30919-cafe-43b9-9f46-226a8a38d246	040ca048-b608-4268-968c-2d436e9293cd	g.chrX:127185764G>A	ENST00000371124.3	-	1	618	c.422C>T	c.(421-423)gCg>gTg	p.A141V		NM_138289.3	NP_612146.1	Q8TDG2	ACTT1_HUMAN	actin-related protein T1	141						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)		p.A141V(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3)	34						CGCTGCCACCGCATGATTAGA	0.522																																						ENST00000371124.3																			1	Substitution - Missense(1)	p.A141V(1)	lung(1)	breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3)	34						c.(421-423)gCg>gTg		actin-related protein T1							192	176	182					X																	127185764		2203	4300	6503	SO:0001583	missense	139741					cytoplasm|cytoskeleton		g.chrX:127185764G>A	AF440739	CCDS14611.1	Xq25	2008-02-05	2005-11-22		ENSG00000123165	ENSG00000123165			24027	protein-coding gene	gene with protein product		300487				12243744	Standard	NM_138289		Approved	AIP1, KIAA0705, ARIP1, Arp-T1	uc004eum.3	Q8TDG2	OTTHUMG00000022359	ENST00000371124.3:c.422C>T	X.37:g.127185764G>A	ENSP00000360165:p.Ala141Val						p.A141V	NM_138289.3	NP_612146.1	Q8TDG2	ACTT1_HUMAN			1	618	-			141					Q6X7C1|Q96L10	Missense_Mutation	SNP	ENST00000371124.3	37	c.422C>T	CCDS14611.1	.	.	.	.	.	.	.	.	.	.	G	13.14	2.148347	0.37923	.	.	ENSG00000123165	ENST00000371124	D	0.97811	-4.55	3.75	1.94	0.25998	.	0.094216	0.44097	D	0.000492	D	0.98673	0.9555	H	0.94462	3.54	0.43207	D	0.995069	D	0.89917	1.0	D	0.97110	1.0	D	0.97562	1.0099	10	0.87932	D	0	.	5.6715	0.17725	0.113:0.0:0.6924:0.1946	.	141	Q8TDG2	ACTT1_HUMAN	V	141	ENSP00000360165:A141V	ENSP00000360165:A141V	A	-	2	0	ACTRT1	127013445	1.000000	0.71417	0.020000	0.16555	0.085000	0.17905	3.934000	0.56553	0.390000	0.25115	0.538000	0.68166	GCG		0.522	ACTRT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058192.1	NM_138289		5	266	0	0	0	1	0	5	266					A	127185764	G	A	127185764	3	1	20	1	0	0	0	0	1	0	0	0	218	1087	38	1	712	1	ACTRT1	23	127185764	Missense_Mutation	SNP	G	TCGA-CH-5746-01A-11D-1576-08		127185764	28084796	29	823											
TXLNA	200081	broad.mit.edu	37	chr1	32657918	32657918	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	catctttgttgcagcatatcGacaaagtcttcaaacacaag	14	11	6	10	1	3	0	1	0	2	0	4	1	3	0	0	0	3	3	0	0	4	4			TCGA-CH-5748-01A-11D-1576-08	TCGA-CH-5748-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b436546f-99a3-4f71-b1aa-8653fe9471ec	feca02f5-4ac6-4bff-8de2-4256809ab640	g.chr1:32657918G>C	ENST00000373609.1	+	6	1251	c.970G>C	c.(970-972)Gac>Cac	p.D324H	TXLNA_ENST00000373610.3_Missense_Mutation_p.D324H			P40222	TXLNA_HUMAN	taxilin alpha	324					B cell activation (GO:0042113)|cell proliferation (GO:0008283)|exocytosis (GO:0006887)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)	cytokine activity (GO:0005125)|high molecular weight B cell growth factor receptor binding (GO:0030372)	p.D324H(1)		endometrium(1)|kidney(1)|large_intestine(4)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)				GCAGCATATCGACAAAGTCTT	0.587																																						ENST00000373609.1																			1	Substitution - Missense(1)	p.D324H(1)	prostate(1)	endometrium(1)|kidney(1)|large_intestine(4)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13						c.(970-972)Gac>Cac		taxilin alpha							93	91	92					1																	32657918		2203	4300	6503	SO:0001583	missense	200081				cell proliferation|exocytosis	cytoplasm|extracellular region	cytokine activity|high molecular weight B cell growth factor receptor binding	g.chr1:32657918G>C	AF516206	CCDS353.1	1p35	2012-02-21			ENSG00000084652	ENSG00000084652			30685	protein-coding gene	gene with protein product		608676				15184072, 14623251	Standard	NM_175852		Approved	DKFZp451J0118	uc001bui.3	P40222	OTTHUMG00000004423	ENST00000373609.1:c.970G>C	1.37:g.32657918G>C	ENSP00000362711:p.Asp324His					TXLNA_ENST00000373610.3_Missense_Mutation_p.D324H	p.D324H			P40222	TXLNA_HUMAN			6	1251	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)	324					D3DPP6|Q5TFJ6|Q66K62|Q86T54|Q86T85|Q86T86|Q86Y86|Q86YW3|Q8N2Y3	Missense_Mutation	SNP	ENST00000373609.1	37	c.970G>C	CCDS353.1	.	.	.	.	.	.	.	.	.	.	G	24.5	4.540327	0.85917	.	.	ENSG00000084652	ENST00000373610;ENST00000373609	T;T	0.32515	1.45;1.45	5.56	5.56	0.83823	.	0.041486	0.85682	D	0.000000	T	0.48642	0.1511	L	0.38838	1.175	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	T	0.37865	-0.9687	10	0.52906	T	0.07	-31.1277	19.8897	0.96925	0.0:0.0:1.0:0.0	.	324	P40222	TXLNA_HUMAN	H	324	ENSP00000362712:D324H;ENSP00000362711:D324H	ENSP00000362711:D324H	D	+	1	0	TXLNA	32430505	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	8.062000	0.89475	2.786000	0.95864	0.591000	0.81541	GAC		0.587	TXLNA-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012844.1	NM_175852		12	128	0	0	0	1	0	12	128					C	32657918	G	C	32657918	3	2	21	1	0	0	0	0	1	0	0	0	16784	1058	37	5	992	5	TXLNA	1	32657918	Missense_Mutation	SNP	G	TCGA-CH-5748-01A-11D-1576-08		32657918	216592703	1	824											
MAST2	23139	broad.mit.edu	37	chr1	46493536	46493539	+	Splice_Site	DEL	GTAA	GTAA	-																															gggaattcctggacaagcagGtaaggaagggtagttgatac																										TCGA-CH-5748-01A-11D-1576-08	TCGA-CH-5748-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b436546f-99a3-4f71-b1aa-8653fe9471ec	feca02f5-4ac6-4bff-8de2-4256809ab640	g.chr1:46493536_46493539delGTAA	ENST00000361297.2	+	17	2335		c.e17+1		MAST2_ENST00000372009.2_Splice_Site	NM_015112.2	NP_055927.2			microtubule associated serine/threonine kinase 2											breast(1)|lung(3)|ovary(5)|stomach(2)	11	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.184)					GGACAAGCAGGTAAGGAAGGGTAG	0.515																																						ENST00000361297.2																			0				breast(1)|lung(3)|ovary(5)|stomach(2)	11						c.e17+1		microtubule associated serine/threonine kinase 2																																				SO:0001630	splice_region_variant	23139				regulation of interleukin-12 biosynthetic process|spermatid differentiation	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|phosphatase binding|protein serine/threonine kinase activity	g.chr1:46493536_46493539delGTAA	AB047005	CCDS41326.1	1p34.1	2008-02-05			ENSG00000086015	ENSG00000086015			19035	protein-coding gene	gene with protein product		612257					Standard	NM_015112		Approved	MAST205, KIAA0807	uc001cov.3	Q6P0Q8	OTTHUMG00000008007	ENST00000361297.2:c.2052+1GTAA>-	1.37:g.46493536_46493539delGTAA						MAST2_ENST00000372008.1_Splice_Site|MAST2_ENST00000372009.2_Splice_Site		NM_015112.2	NP_055927.2	Q6P0Q8	MAST2_HUMAN			17	2335	+	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.184)								Splice_Site	DEL	ENST00000361297.2	37		CCDS41326.1																																																																																				0.515	MAST2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021977.1	NM_015112	Intron	9	114						9	114	---	---	---	---	-	46493539	GTAA	-	46493536	8	5	21	1	0	1	0	1	0	0	1	0	9325	1275	44	0	2119	0	MAST2	1	46493536	Splice_Site	DEL	GTAA	TCGA-CH-5748-01A-11D-1576-08	13835618	46493536	202757085	2	825											
TMEM61	199964	broad.mit.edu	37	chr1	55457539	55457539	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtggttgacatccccacttaCgaggaagccgtgagcttccc	8	9	11	13	2	0	2	0	2	0	0	2	4	2	3	4	2	3	2	4	2	2	3	rs367741541		TCGA-CH-5748-01A-11D-1576-08	TCGA-CH-5748-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b436546f-99a3-4f71-b1aa-8653fe9471ec	feca02f5-4ac6-4bff-8de2-4256809ab640	g.chr1:55457539C>T	ENST00000371268.3	+	3	670	c.396C>T	c.(394-396)taC>taT	p.Y132Y	RP11-12C17.2_ENST00000436960.1_RNA	NM_182532.1	NP_872338.1	Q8N0U2	TMM61_HUMAN	transmembrane protein 61	132						integral component of membrane (GO:0016021)		p.Y132Y(1)		endometrium(1)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	4						TCCCCACTTACGAGGAAGCCG	0.627																																						ENST00000371268.3																			1	Substitution - coding silent(1)	p.Y132Y(1)	prostate(1)	endometrium(1)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	4						c.(394-396)taC>taT		transmembrane protein 61		C		0,4406		0,0,2203	77	78	77		396	-7.3	0	1		77	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	TMEM61	NM_182532.1		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		132/211	55457539	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	199964					integral to membrane		g.chr1:55457539C>T	BC029775	CCDS601.1	1p32.3	2008-02-05			ENSG00000143001	ENSG00000143001			27296	protein-coding gene	gene with protein product						12477932	Standard	NM_182532		Approved		uc001cyd.3	Q8N0U2	OTTHUMG00000009991	ENST00000371268.3:c.396C>T	1.37:g.55457539C>T						RP11-12C17.2_ENST00000436960.1_RNA	p.Y132Y	NM_182532.1	NP_872338.1	Q8N0U2	TMM61_HUMAN			3	670	+			132						Silent	SNP	ENST00000371268.3	37	c.396C>T	CCDS601.1																																																																																				0.627	TMEM61-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027683.1	NM_182532		10	140	0	0	0	1	0	10	140					T	55457539	C	T	55457539	2	4	21	1	0	0	0	0	0	0	0	1	16185	547	19	1		1	TMEM61	1	55457539	Silent	SNP	C	TCGA-CH-5748-01A-11D-1576-08	8964003	55457539	193793082	3	826											
CACHD1	57685	broad.mit.edu	37	chr1	65147750	65147750	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacacagtccagaaagaaggCgccgctactggggtcgatca	12	5	12	12	3	1	2	1	0	0	2	3	3	2	2	2	3	1	1	2	3	3	1			TCGA-CH-5748-01A-11D-1576-08	TCGA-CH-5748-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b436546f-99a3-4f71-b1aa-8653fe9471ec	feca02f5-4ac6-4bff-8de2-4256809ab640	g.chr1:65147750C>T	ENST00000371073.2	+	26	3547	c.3547C>T	c.(3547-3549)Cgc>Tgc	p.R1183C	CACHD1_ENST00000290039.5_Missense_Mutation_p.R1132C|CACHD1_ENST00000495994.1_3'UTR			Q5VU97	CAHD1_HUMAN	cache domain containing 1	1183					calcium ion transport (GO:0006816)	integral component of membrane (GO:0016021)		p.R1132C(2)		breast(4)|endometrium(3)|kidney(3)|large_intestine(20)|lung(14)|ovary(2)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						AGAAAGAAGGCGCCGCTACTG	0.493																																						ENST00000371073.2																			2	Substitution - Missense(2)	p.R1132C(2)	large_intestine(1)|prostate(1)	breast(4)|endometrium(3)|kidney(3)|large_intestine(20)|lung(14)|ovary(2)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						c.(3547-3549)Cgc>Tgc		cache domain containing 1							120	108	112					1																	65147750		2203	4300	6503	SO:0001583	missense	57685				calcium ion transport	integral to membrane		g.chr1:65147750C>T	AB046793	CCDS628.2	1p31.3	2008-02-05	2005-10-11	2005-10-11	ENSG00000158966	ENSG00000158966			29314	protein-coding gene	gene with protein product			"von Willebrand factor type A and cache domain containing 1"	VWCD1		10997877	Standard	NM_020925		Approved	KIAA1573	uc001dbo.1	Q5VU97	OTTHUMG00000009030	ENST00000371073.2:c.3547C>T	1.37:g.65147750C>T	ENSP00000360113:p.Arg1183Cys					CACHD1_ENST00000290039.5_Missense_Mutation_p.R1132C|CACHD1_ENST00000495994.1_3'UTR	p.R1183C			Q5VU97	CAHD1_HUMAN			26	3547	+			1183					Q49AE9|Q658T4|Q7Z3P2|Q9H7W4|Q9H9W3|Q9HCJ9	Missense_Mutation	SNP	ENST00000371073.2	37	c.3547C>T		.	.	.	.	.	.	.	.	.	.	C	33	5.222927	0.95139	.	.	ENSG00000158966	ENST00000371073;ENST00000290039	T;T	0.28454	1.61;1.62	5.91	5.91	0.95273	.	0.049203	0.85682	D	0.000000	T	0.39091	0.1065	L	0.29908	0.895	0.80722	D	1	D	0.89917	1.0	D	0.74023	0.982	T	0.26430	-1.0103	10	0.72032	D	0.01	-18.8868	20.2985	0.98592	0.0:1.0:0.0:0.0	.	1183	Q5VU97	CAHD1_HUMAN	C	1183;1132	ENSP00000360113:R1183C;ENSP00000290039:R1132C	ENSP00000290039:R1132C	R	+	1	0	CACHD1	64920338	1.000000	0.71417	0.998000	0.56505	0.930000	0.56654	7.410000	0.80065	2.793000	0.96121	0.655000	0.94253	CGC		0.493	CACHD1-201	KNOWN	basic	protein_coding	protein_coding		NM_020925		4	59	0	0	0	1	0	4	59					T	65147750	C	T	65147750	3	4	21	1	0	0	0	0	1	0	0	0	2537	768	27	1	3496	1	CACHD1	1	65147750	Missense_Mutation	SNP	C	TCGA-CH-5748-01A-11D-1576-08	9690211	65147750	184102871	4	827											
DEPDC1	55635	broad.mit.edu	37	chr1	68948183	68948183	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgatgaaagacactggatgcCtctttacttgaattccctgg	10	13	9	9	0	1	4	0	3	1	1	2	5	2	5	2	2	2	0	2	2	3	4			TCGA-CH-5748-01A-11D-1576-08	TCGA-CH-5748-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b436546f-99a3-4f71-b1aa-8653fe9471ec	feca02f5-4ac6-4bff-8de2-4256809ab640	g.chr1:68948183C>G	ENST00000456315.2	-	8	1422	c.1308G>C	c.(1306-1308)gaG>gaC	p.E436D	RP4-694A7.2_ENST00000425820.1_RNA|DEPDC1_ENST00000370966.5_Intron	NM_001114120.1	NP_001107592.1	Q5TB30	DEP1A_HUMAN	DEP domain containing 1	436					intracellular signal transduction (GO:0035556)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	GTPase activator activity (GO:0005096)	p.E436D(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	13				OV - Ovarian serous cystadenocarcinoma(397;7.21e-36)		CACTGGATGCCTCTTTACTTG	0.373																																						ENST00000456315.2																			1	Substitution - Missense(1)	p.E436D(1)	prostate(1)	endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	13						c.(1306-1308)gaG>gaC		DEP domain containing 1							188	172	177					1																	68948183		1568	3582	5150	SO:0001583	missense	55635				intracellular signal transduction|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	transcriptional repressor complex	GTPase activator activity|protein binding	g.chr1:68948183C>G	AK000361	CCDS644.1, CCDS44159.1	1p31.2	2008-08-19			ENSG00000024526	ENSG00000024526			22949	protein-coding gene	gene with protein product		612002					Standard	NM_001114120		Approved	DEP.8, FLJ20354, SDP35, DEPDC1A	uc001dem.4	Q5TB30	OTTHUMG00000009212	ENST00000456315.2:c.1308G>C	1.37:g.68948183C>G	ENSP00000412292:p.Glu436Asp					DEPDC1_ENST00000370966.5_Intron|RP4-694A7.2_ENST00000425820.1_RNA	p.E436D	NM_001114120.1	NP_001107592.1	Q5TB30	DEP1A_HUMAN		OV - Ovarian serous cystadenocarcinoma(397;7.21e-36)	8	1422	-			436					A8QXE0|A8QXE1|Q05DU3|Q5TB28|Q9H9I3|Q9NX21|Q9NXZ0	Missense_Mutation	SNP	ENST00000456315.2	37	c.1308G>C	CCDS44159.1	.	.	.	.	.	.	.	.	.	.	C	2.778	-0.254168	0.05829	.	.	ENSG00000024526	ENST00000456315	T	0.10477	2.87	5.46	1.4	0.22301	Rho GTPase activation protein (1);	0.519098	0.21382	N	0.075452	T	0.01387	0.0045	N	0.17082	0.46	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.47686	-0.9098	10	0.15066	T	0.55	-0.8968	4.693	0.12790	0.272:0.4936:0.0:0.2344	.	436	Q5TB30	DEP1A_HUMAN	D	436	ENSP00000412292:E436D	ENSP00000412292:E436D	E	-	3	2	DEPDC1	68720771	0.000000	0.05858	0.545000	0.28153	0.386000	0.30323	-0.119000	0.10676	0.646000	0.30693	-0.143000	0.13931	GAG		0.373	DEPDC1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000025514.2	NM_017779		9	227	0	0	0	1	0	9	227					G	68948183	C	G	68948183	3	3	21	1	0	0	0	0	1	0	0	0	4439	680	24	5	1147	5	DEPDC1	1	68948183	Missense_Mutation	SNP	C	TCGA-CH-5748-01A-11D-1576-08	3800433	68948183	180302438	5	828											
CA14	23632	broad.mit.edu	37	chr1	150235768	150235768	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	gcttctggtacagaactaccGagcccttcagcctctcaatc	9	10	7	15	1	3	1	2	0	2	1	5	2	3	1	3	1	5	2	3	1	4	4			TCGA-CH-5748-01A-11D-1576-08	TCGA-CH-5748-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b436546f-99a3-4f71-b1aa-8653fe9471ec	feca02f5-4ac6-4bff-8de2-4256809ab640	g.chr1:150235768G>C	ENST00000369111.4	+	8	1761	c.791G>C	c.(790-792)cGa>cCa	p.R264P	APH1A_ENST00000461320.1_5'Flank|snoU13_ENST00000458929.1_RNA	NM_012113.1	NP_036245.1	Q9ULX7	CAH14_HUMAN	carbonic anhydrase XIV	264					bicarbonate transport (GO:0015701)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbonate dehydratase activity (GO:0004089)|metal ion binding (GO:0046872)	p.R264P(1)		central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(2)|prostate(2)	18	Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)		Acetazolamide(DB00819)|Zonisamide(DB00909)	CAGAACTACCGAGCCCTTCAG	0.522																																						ENST00000369111.4																			1	Substitution - Missense(1)	p.R264P(1)	prostate(1)	central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(2)|prostate(2)	18						c.(790-792)cGa>cCa		carbonic anhydrase XIV							92	94	93					1																	150235768		2203	4300	6503	SO:0001583	missense	23632					integral to membrane	carbonate dehydratase activity|metal ion binding	g.chr1:150235768G>C	AB025904	CCDS947.1	1q21	2008-02-05			ENSG00000118298	ENSG00000118298		"Carbonic anhydrases"	1372	protein-coding gene	gene with protein product		604832				10512682	Standard	XM_005245059		Approved		uc001etx.3	Q9ULX7	OTTHUMG00000012549	ENST00000369111.4:c.791G>C	1.37:g.150235768G>C	ENSP00000358107:p.Arg264Pro						p.R264P	NM_012113.1	NP_036245.1	Q9ULX7	CAH14_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		8	1761	+	Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		264					Q5TB24|Q8NCF4	Missense_Mutation	SNP	ENST00000369111.4	37	c.791G>C	CCDS947.1	.	.	.	.	.	.	.	.	.	.	G	26.5	4.742679	0.89573	.	.	ENSG00000118298	ENST00000369111	T	0.79845	-1.31	5.2	5.2	0.72013	Carbonic anhydrase, alpha-class, catalytic domain (4);	0.000000	0.85682	D	0.000000	D	0.93038	0.7784	H	0.98426	4.23	0.58432	D	0.999998	D	0.89917	1.0	D	0.97110	1.0	D	0.94836	0.8000	10	0.87932	D	0	.	14.1104	0.65118	0.0:0.0:1.0:0.0	.	264	Q9ULX7	CAH14_HUMAN	P	264	ENSP00000358107:R264P	ENSP00000358107:R264P	R	+	2	0	CA14	148502392	1.000000	0.71417	0.991000	0.47740	0.983000	0.72400	7.632000	0.83247	2.691000	0.91804	0.655000	0.94253	CGA		0.522	CA14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000035064.2	NM_012113		11	112	0	0	0	1	0	11	112					C	150235768	G	C	150235768	3	2	21	1	0	0	0	0	1	0	0	0	2515	1058	37	5	821	5	CA14	1	150235768	Missense_Mutation	SNP	G	TCGA-CH-5748-01A-11D-1576-08	81287585	150235768	99014853	6	829											
CACNA1E	777	broad.mit.edu	37	chr1	181724376	181724376	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtttgctctgtccacaggccGtcttcgactgcgtagtgacc	5	12	11	13	3	2	1	0	1	2	0	4	2	3	1	3	1	2	3	3	1	1	3			TCGA-CH-5748-01A-11D-1576-08	TCGA-CH-5748-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b436546f-99a3-4f71-b1aa-8653fe9471ec	feca02f5-4ac6-4bff-8de2-4256809ab640	g.chr1:181724376G>A	ENST00000367573.2	+	28	3832	c.3832G>A	c.(3832-3834)Gtc>Atc	p.V1278I	CACNA1E_ENST00000357570.5_Missense_Mutation_p.V1229I|CACNA1E_ENST00000526775.1_Missense_Mutation_p.V1259I|CACNA1E_ENST00000367567.4_Missense_Mutation_p.V885I|CACNA1E_ENST00000358338.5_Missense_Mutation_p.V1210I|CACNA1E_ENST00000367570.1_Missense_Mutation_p.V1278I|CACNA1E_ENST00000360108.3_Missense_Mutation_p.V1259I	NM_001205293.1	NP_001192222.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	1278					calcium ion import (GO:0070509)|energy reserve metabolic process (GO:0006112)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|voltage-gated calcium channel activity (GO:0005245)	p.V1278I(1)		NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						TCCACAGGCCGTCTTCGACTG	0.517																																						ENST00000526775.1																			1	Substitution - Missense(1)	p.V1278I(1)	prostate(1)	NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						c.(3775-3777)Gtc>Atc		calcium channel, voltage-dependent, R type, alpha 1E subunit							117	113	114					1																	181724376		2008	4192	6200	SO:0001583	missense	777				energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr1:181724376G>A	AK096563	CCDS53443.1, CCDS55664.1, CCDS55665.1	1q25.3	2013-01-10	2007-02-16		ENSG00000198216	ENSG00000198216		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels", "EF-hand domain containing"	1392	protein-coding gene	gene with protein product		601013		CACNL1A6		8388125, 16382099	Standard	NM_001205293		Approved	Cav2.3, BII, CACH6	uc009wxt.3	Q15878	OTTHUMG00000037301	ENST00000367573.2:c.3832G>A	1.37:g.181724376G>A	ENSP00000356545:p.Val1278Ile					CACNA1E_ENST00000367567.4_Missense_Mutation_p.V885I|CACNA1E_ENST00000357570.5_Missense_Mutation_p.V1229I|CACNA1E_ENST00000358338.5_Missense_Mutation_p.V1210I|CACNA1E_ENST00000367573.2_Missense_Mutation_p.V1278I|CACNA1E_ENST00000367570.1_Missense_Mutation_p.V1278I|CACNA1E_ENST00000360108.3_Missense_Mutation_p.V1259I	p.V1259I	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN			27	3940	+			1278					B1AM12|B1AM13|B1AM14|Q14580|Q14581	Missense_Mutation	SNP	ENST00000367573.2	37	c.3775G>A	CCDS55664.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.109005	0.77096	.	.	ENSG00000198216	ENST00000367570;ENST00000526775;ENST00000357570;ENST00000358338;ENST00000367567;ENST00000360108;ENST00000367573	D;D;D;D;D;D;D	0.98381	-4.9;-4.9;-4.9;-4.9;-4.9;-4.9;-4.9	5.0	5.0	0.66597	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.98732	0.9574	M	0.70842	2.15	0.80722	D	1	D;D;D	0.71674	0.964;0.971;0.998	P;P;D	0.73708	0.668;0.495;0.981	D	0.99891	1.1134	10	0.87932	D	0	.	17.8993	0.88898	0.0:0.0:1.0:0.0	.	1259;1278;1278	Q15878-2;Q15878;Q15878-3	.;CAC1E_HUMAN;.	I	1278;1259;1229;1210;885;1259;1278	ENSP00000356542:V1278I;ENSP00000434814:V1259I;ENSP00000350183:V1229I;ENSP00000351101:V1210I;ENSP00000356539:V885I;ENSP00000353222:V1259I;ENSP00000356545:V1278I	ENSP00000350183:V1229I	V	+	1	0	CACNA1E	179990999	1.000000	0.71417	0.991000	0.47740	0.957000	0.61999	9.685000	0.98661	2.330000	0.79161	0.650000	0.86243	GTC		0.517	CACNA1E-003	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090793.2	NM_000721		4	90	0	0	0	1	0	4	90					A	181724376	G	A	181724376	3	1	21	1	0	0	0	0	1	0	0	0	2542	1145	40	1	3942	1	CACNA1E	1	181724376	Missense_Mutation	SNP	G	TCGA-CH-5748-01A-11D-1576-08	31488608	181724376	67526245	7	830											
HNRPLL	92906	broad.mit.edu	37	chr2	38818746	38818746	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	tcacagagtcctcgaacatgGacgacgggtgaaacagaaac	15	5	11	10	3	1	3	1	1	0	2	3	6	2	4	1	2	3	0	1	2	3	0			TCGA-CH-5748-01A-11D-1576-08	TCGA-CH-5748-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b436546f-99a3-4f71-b1aa-8653fe9471ec	feca02f5-4ac6-4bff-8de2-4256809ab640	g.chr2:38818746G>C	ENST00000449105.3	-	2	573	c.234C>G	c.(232-234)gtC>gtG	p.V78V	HNRNPLL_ENST00000358367.4_Silent_p.V78V|HNRNPLL_ENST00000378915.3_Silent_p.V78V|HNRNPLL_ENST00000608859.1_Silent_p.V78V|HNRNPLL_ENST00000409328.1_Silent_p.V78V|HNRNPLL_ENST00000410076.1_Silent_p.V73V|HNRNPLL_ENST00000498516.1_5'UTR|HNRNPLL_ENST00000409636.1_Silent_p.V73V			Q8WVV9	HNRLL_HUMAN	heterogeneous nuclear ribonucleoprotein L-like	78	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA processing (GO:0006397)|positive regulation of RNA splicing (GO:0033120)	membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.V78V(1)|p.V73V(1)									CTCGAACATGGACGACGGGTG	0.433																																						ENST00000449105.2																			2	Substitution - coding silent(2)	p.V78V(1)|p.V73V(1)	prostate(2)								c.(232-234)gtC>gtG		heterogeneous nuclear ribonucleoprotein L-like							116	111	112					2																	38818746		2203	4300	6503	SO:0001819	synonymous_variant	92906							g.chr2:38818746G>C	BC008217	CCDS46261.1, CCDS1796.2	2p22	2014-02-10		2013-06-12	ENSG00000143889	ENSG00000143889		"RNA binding motif (RRM) containing"	25127	protein-coding gene	gene with protein product		611208		HNRPLL		18669861	Standard	NM_138394		Approved		uc021vgc.1	Q8WVV9	OTTHUMG00000102075	ENST00000449105.3:c.234C>G	2.37:g.38818746G>C						HNRNPLL_ENST00000409636.1_Silent_p.V73V|HNRNPLL_ENST00000378915.3_Silent_p.V78V|HNRNPLL_ENST00000410076.1_Silent_p.V73V|HNRNPLL_ENST00000498516.1_5'UTR|HNRNPLL_ENST00000358367.4_Silent_p.V78V|HNRNPLL_ENST00000409328.1_Silent_p.V78V	p.V78V	NM_138394.3	NP_612403.2					2	573	-								Q53T80|Q5JB51|Q5JB52|Q659B9|Q8IVH5|Q8IVH6|Q96HR5	Silent	SNP	ENST00000449105.3	37	c.234C>G																																																																																					0.433	HNRNPLL-001	KNOWN	non_canonical_conserved|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000219887.2	NM_138394		17	123	0	0	0	1	0	17	123					C	38818746	G	C	38818746	2	2	21	1	0	0	0	0	0	0	0	1	7277	1161	41	5		5	HNRPLL	2	38818746	Silent	SNP	G	TCGA-CH-5748-01A-11D-1576-08		38818746	204380627	8	831											
TMEFF2	23671	broad.mit.edu	37	chr2	193056699	193056699	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcacagaggaagagatcattTtctctgtcatcataacctca	13	12	6	10	0	6	2	5	0	1	2	7	4	6	3	1	1	1	0	1	1	2	3			TCGA-CH-5748-01A-11D-1576-08	TCGA-CH-5748-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b436546f-99a3-4f71-b1aa-8653fe9471ec	feca02f5-4ac6-4bff-8de2-4256809ab640	g.chr2:193056699T>C	ENST00000272771.5	-	2	1373	c.189A>G	c.(187-189)gaA>gaG	p.E63E	TMEFF2_ENST00000392314.1_Silent_p.E63E|TMEFF2_ENST00000409056.3_Silent_p.E63E	NM_016192.2	NP_057276.2	Q9UIK5	TEFF2_HUMAN	transmembrane protein with EGF-like and two follistatin-like domains 2	63				E -> G (in Ref. 6; BAC11030). {ECO:0000305}.		extracellular region (GO:0005576)|integral component of membrane (GO:0016021)		p.E63E(1)		breast(2)|cervix(1)|kidney(2)|large_intestine(4)|liver(1)|lung(12)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27			OV - Ovarian serous cystadenocarcinoma(117;0.0835)			AGAGATCATTTTCTCTGTCAT	0.348																																					Pancreas(50;1277 1381 28487 47072)	ENST00000409056.3																			1	Substitution - coding silent(1)	p.E63E(1)	prostate(1)	breast(2)|cervix(1)|kidney(2)|large_intestine(4)|liver(1)|lung(12)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						c.(187-189)gaA>gaG		transmembrane protein with EGF-like and two follistatin-like domains 2							87	83	84					2																	193056699		2203	4300	6503	SO:0001819	synonymous_variant	23671					extracellular region|integral to membrane		g.chr2:193056699T>C	AB017269	CCDS2314.1	2q32.3	2010-05-04			ENSG00000144339	ENSG00000144339			11867	protein-coding gene	gene with protein product	"transmembrane protein TENB2", "tomoregulin", "cancer/testis antigen family 120, member 2"	605734				10903839	Standard	NM_016192		Approved	TENB2, HPP1, TR, TPEF, CT120.2	uc002utc.3	Q9UIK5	OTTHUMG00000132723	ENST00000272771.5:c.189A>G	2.37:g.193056699T>C						TMEFF2_ENST00000272771.5_Silent_p.E63E|TMEFF2_ENST00000392314.1_Silent_p.E63E	p.E63E			Q9UIK5	TEFF2_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0835)		2	188	-			63	E -> G (in Ref. 6; BAC11030).				Q2FA44|Q4ZFW4|Q53H90|Q53RE1|Q8N2R5|Q9NR15|Q9NSS5|Q9P2Y9|Q9UK65	Silent	SNP	ENST00000272771.5	37	c.189A>G	CCDS2314.1																																																																																				0.348	TMEFF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256065.2	NM_016192		7	58	0	0	0	1	0	7	58					C	193056699	T	C	193056699	2	2	21	1	0	0	0	0	0	0	0	1	16011	1838	64	4		4	TMEFF2	2	193056699	Silent	SNP	T	TCGA-CH-5748-01A-11D-1576-08	154237953	193056699	50142674	9	832											
C3orf38	285237	broad.mit.edu	37	chr3	88202584	88202584	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	attgaaggaaacgccagagcCagttacaaagacagaggaca	18	4	11	8	1	0	4	0	1	0	3	0	6	0	6	2	2	3	1	2	2	4	2			TCGA-CH-5748-01A-11D-1576-08	TCGA-CH-5748-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b436546f-99a3-4f71-b1aa-8653fe9471ec	feca02f5-4ac6-4bff-8de2-4256809ab640	g.chr3:88202584C>T	ENST00000318887.3	+	2	648	c.338C>T	c.(337-339)cCa>cTa	p.P113L	C3orf38_ENST00000486971.1_Missense_Mutation_p.P113L	NM_173824.3	NP_776185.2	Q5JPI3	CC038_HUMAN	chromosome 3 open reading frame 38	113					apoptotic process (GO:0006915)			p.P111L(1)|p.P113L(1)		breast(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	12		Lung NSC(201;0.17)		UCEC - Uterine corpus endometrioid carcinoma (27;0.194)|LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00661)		ACGCCAGAGCCAGTTACAAAG	0.368																																						ENST00000318887.3																			2	Substitution - Missense(2)	p.P111L(1)|p.P113L(1)	prostate(2)	breast(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	12						c.(337-339)cCa>cTa		chromosome 3 open reading frame 38							81	80	80					3																	88202584		2203	4300	6503	SO:0001583	missense	285237				apoptosis			g.chr3:88202584C>T	AL832398	CCDS2921.1, CCDS2921.2	3p11.1	2011-01-25			ENSG00000179021	ENSG00000179021			28384	protein-coding gene	gene with protein product						12477932	Standard	NM_173824		Approved	MGC26717	uc003dqw.3	Q5JPI3	OTTHUMG00000155752	ENST00000318887.3:c.338C>T	3.37:g.88202584C>T	ENSP00000322469:p.Pro113Leu					C3orf38_ENST00000486971.1_Missense_Mutation_p.P113L	p.P113L	NM_173824.3	NP_776185.2	Q5JPI3	CC038_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.194)|LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00661)	2	648	+		Lung NSC(201;0.17)	113					B2R8X6|Q8TC85	Missense_Mutation	SNP	ENST00000318887.3	37	c.338C>T	CCDS2921.2	.	.	.	.	.	.	.	.	.	.	C	11.01	1.512600	0.27123	.	.	ENSG00000179021	ENST00000318887;ENST00000486971	.	.	.	5.84	1.89	0.25635	.	0.793733	0.12023	N	0.506735	T	0.33411	0.0862	L	0.53249	1.67	0.09310	N	1	B	0.34015	0.435	B	0.31101	0.124	T	0.25117	-1.0141	9	0.52906	T	0.07	-3.5415	5.4961	0.16804	0.1247:0.5282:0.2676:0.0796	.	113	Q5JPI3	CC038_HUMAN	L	113	.	ENSP00000322469:P113L	P	+	2	0	C3orf38	88285274	0.000000	0.05858	0.128000	0.21923	0.570000	0.35934	-0.051000	0.11885	0.793000	0.33875	0.650000	0.86243	CCA		0.368	C3orf38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341513.1	NM_173824		5	71	0	0	0	1	0	5	71					T	88202584	C	T	88202584	3	4	21	1	0	0	0	0	1	0	0	0	2228	594	21	3	344	3	C3orf38	3	88202584	Missense_Mutation	SNP	C	TCGA-CH-5748-01A-11D-1576-08		88202584	109819846	10	833											
SH3TC1	54436	broad.mit.edu	37	chr4	8235132	8235132	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tacaccaaacgaagtctgggGattttcattgacctccagaa	13	10	8	10	1	2	2	1	1	1	1	3	4	3	3	3	2	2	0	3	2	4	4			TCGA-CH-5748-01A-11D-1576-08	TCGA-CH-5748-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b436546f-99a3-4f71-b1aa-8653fe9471ec	feca02f5-4ac6-4bff-8de2-4256809ab640	g.chr4:8235132G>A	ENST00000245105.3	+	14	3241	c.3174G>A	c.(3172-3174)ggG>ggA	p.G1058G	SH3TC1_ENST00000539824.1_Silent_p.G982G	NM_018986.3	NP_061859	Q8TE82	S3TC1_HUMAN	SH3 domain and tetratricopeptide repeats 1	1058								p.G1058G(1)		NS(1)|breast(3)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33						GAAGTCTGGGGATTTTCATTG	0.537																																					NSCLC(145;2298 2623 35616 37297)	ENST00000539824.1																			1	Substitution - coding silent(1)	p.G1058G(1)	prostate(1)	NS(1)|breast(3)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33						c.(2944-2946)ggG>ggA		SH3 domain and tetratricopeptide repeats 1							82	73	76					4																	8235132		2203	4300	6503	SO:0001819	synonymous_variant	54436						binding	g.chr4:8235132G>A	AK074093	CCDS3399.1	4p16.1	2013-01-11			ENSG00000125089	ENSG00000125089		"Tetratricopeptide (TTC) repeat domain containing"	26009	protein-coding gene	gene with protein product							Standard	NM_018986		Approved	FLJ20356	uc003gkv.4	Q8TE82	OTTHUMG00000160934	ENST00000245105.3:c.3174G>A	4.37:g.8235132G>A						SH3TC1_ENST00000245105.3_Silent_p.G1058G	p.G982G			Q8TE82	S3TC1_HUMAN			14	3320	+			1058					Q4W5G5	Silent	SNP	ENST00000245105.3	37	c.2946G>A	CCDS3399.1																																																																																				0.537	SH3TC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206991.2	NM_018986		6	34	0	0	0	1	0	6	34					A	8235132	G	A	8235132	2	1	21	1	0	0	0	0	0	0	0	1	14261	1161	41	3		3	SH3TC1	4	8235132	Silent	SNP	G	TCGA-CH-5748-01A-11D-1576-08		8235132	182919144	11	834											
C4orf23	152992	broad.mit.edu	37	chr4	8467202	8467202	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	gtaagaagactcagtaccggGaataccttgacttcattaaa	15	10	8	8	1	2	3	2	1	0	2	2	4	2	4	2	1	2	2	2	1	7	6			TCGA-CH-5748-01A-11D-1576-08	TCGA-CH-5748-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b436546f-99a3-4f71-b1aa-8653fe9471ec	feca02f5-4ac6-4bff-8de2-4256809ab640	g.chr4:8467202G>C	ENST00000389737.4	+	8	1408	c.1408G>C	c.(1408-1410)Gaa>Caa	p.E470Q	TRMT44_ENST00000513449.2_Missense_Mutation_p.E229Q	NM_152544.2	NP_689757.2	Q8IYL2	TRM44_HUMAN	tRNA methyltransferase 44 homolog (S. cerevisiae)	470					tRNA processing (GO:0008033)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)	p.E470Q(1)|p.E78Q(1)									TCAGTACCGGGAATACCTTGA	0.473																																						ENST00000389737.4																			2	Substitution - Missense(2)	p.E470Q(1)|p.E78Q(1)	prostate(2)								c.(1408-1410)Gaa>Caa		tRNA methyltransferase 44 homolog (S. cerevisiae)							131	129	129					4																	8467202		2203	4300	6503	SO:0001583	missense	152992							g.chr4:8467202G>C	AK093044	CCDS3402.1, CCDS3402.2	4p16.1	2012-06-12	2012-06-12	2012-06-12	ENSG00000155275	ENSG00000155275			26653	protein-coding gene	gene with protein product	"tRNA methyltransferase 44 homolog (S. cerevisiae)"	614309	"chromosome 4 open reading frame 23", "methyltransferase like 19"	C4orf23, METTL19		21658913	Standard	NM_152544		Approved	FLJ35725, TRM44	uc003glg.2	Q8IYL2	OTTHUMG00000160935	ENST00000389737.4:c.1408G>C	4.37:g.8467202G>C	ENSP00000374387:p.Glu470Gln					TRMT44_ENST00000513449.2_Missense_Mutation_p.E229Q	p.E470Q	NM_152544.2	NP_689757.2					8	1408	+								Q8NA95	Missense_Mutation	SNP	ENST00000389737.4	37	c.1408G>C	CCDS3402.2	.	.	.	.	.	.	.	.	.	.	G	19.05	3.751590	0.69533	.	.	ENSG00000155275	ENST00000513449;ENST00000389737;ENST00000285635	T;T	0.33438	1.41;1.41	4.75	4.75	0.60458	.	0.058315	0.64402	D	0.000002	T	0.46946	0.1419	L	0.57536	1.79	0.58432	D	0.999998	P;D	0.53312	0.761;0.959	B;P	0.56474	0.248;0.799	T	0.34625	-0.9821	10	0.37606	T	0.19	-23.3519	17.9328	0.89004	0.0:0.0:1.0:0.0	.	470;229	Q8IYL2;Q8IYL2-2	TRM44_HUMAN;.	Q	229;470;78	ENSP00000424643:E229Q;ENSP00000374387:E470Q	ENSP00000285635:E78Q	E	+	1	0	METTL19	8518102	1.000000	0.71417	0.641000	0.29422	0.859000	0.49053	8.616000	0.90924	2.453000	0.82957	0.637000	0.83480	GAA		0.473	TRMT44-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000359197.2	NM_152544		5	126	0	0	0	1	0	5	126					C	8467202	G	C	8467202	3	2	21	1	0	0	0	0	1	0	0	0	2256	1175	41	5	1438	5	C4orf23	4	8467202	Missense_Mutation	SNP	G	TCGA-CH-5748-01A-11D-1576-08	232070	8467202	182687074	12	835											
CWH43	80157	broad.mit.edu	37	chr4	48994016	48994016	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gttgttctacgcatatggtaTacttcactaaacccaatctg	11	14	6	10	1	3	0	1	0	2	0	3	0	3	0	1	1	3	4	1	1	7	8			TCGA-CH-5748-01A-11D-1576-08	TCGA-CH-5748-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b436546f-99a3-4f71-b1aa-8653fe9471ec	feca02f5-4ac6-4bff-8de2-4256809ab640	g.chr4:48994016T>C	ENST00000226432.4	+	4	603	c.420T>C	c.(418-420)taT>taC	p.Y140Y	CWH43_ENST00000513409.1_Silent_p.Y113Y	NM_025087.2	NP_079363.2	Q9H720	PG2IP_HUMAN	cell wall biogenesis 43 C-terminal homolog (S. cerevisiae)	140					GPI anchor biosynthetic process (GO:0006506)	integral component of membrane (GO:0016021)		p.Y140Y(1)		cervix(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(26)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43						GCATATGGTATACTTCACTAA	0.368																																						ENST00000226432.4																			1	Substitution - coding silent(1)	p.Y140Y(1)	prostate(1)	cervix(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(26)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43						c.(418-420)taT>taC		cell wall biogenesis 43 C-terminal homolog (S. cerevisiae)							189	171	177					4																	48994016		2203	4300	6503	SO:0001819	synonymous_variant	80157				GPI anchor biosynthetic process	integral to membrane		g.chr4:48994016T>C		CCDS3486.1, CCDS68697.1	4p12-p11	2010-09-21			ENSG00000109182	ENSG00000109182			26133	protein-coding gene	gene with protein product						17714445, 17761529	Standard	NM_025087		Approved	FLJ21511, CWH43-C	uc003gyv.3	Q9H720	OTTHUMG00000128627	ENST00000226432.4:c.420T>C	4.37:g.48994016T>C						CWH43_ENST00000513409.1_Silent_p.Y113Y	p.Y140Y	NM_025087.2	NP_079363.2	Q9H720	PG2IP_HUMAN			4	603	+			140					B2RPD7	Silent	SNP	ENST00000226432.4	37	c.420T>C	CCDS3486.1																																																																																				0.368	CWH43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250496.2	NM_025087		13	111	0	0	0	1	0	13	111					C	48994016	T	C	48994016	2	2	21	1	0	0	0	0	0	0	0	1	4073	1413	49	4		4	CWH43	4	48994016	Silent	SNP	T	TCGA-CH-5748-01A-11D-1576-08	40526814	48994016	142160260	13	836											
PCDH18	54510	broad.mit.edu	37	chr4	138451489	138451489	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgggaatggtgatttctgccGtattattacgcaatgcaggc	9	13	12	7	2	1	1	0	1	1	0	1	2	1	2	1	3	3	3	1	3	5	4			TCGA-CH-5748-01A-11D-1576-08	TCGA-CH-5748-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b436546f-99a3-4f71-b1aa-8653fe9471ec	feca02f5-4ac6-4bff-8de2-4256809ab640	g.chr4:138451489G>A	ENST00000344876.4	-	1	2140	c.1754C>T	c.(1753-1755)aCg>aTg	p.T585M	PCDH18_ENST00000507846.1_Missense_Mutation_p.T365M|PCDH18_ENST00000412923.2_Missense_Mutation_p.T585M|PCDH18_ENST00000510305.1_Intron|PCDH18_ENST00000511115.1_Intron	NM_019035.3	NP_061908.1	Q9HCL0	PCD18_HUMAN	protocadherin 18	585	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				brain development (GO:0007420)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.T585M(1)		NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					GATTTCTGCCGTATTATTACG	0.468																																						ENST00000344876.4																			1	Substitution - Missense(1)	p.T585M(1)	prostate(1)	NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86						c.(1753-1755)aCg>aTg		protocadherin 18							208	194	199					4																	138451489		2203	4300	6503	SO:0001583	missense	54510				brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:138451489G>A	AL137471	CCDS34064.1, CCDS75193.1	4q28.3	2010-01-26			ENSG00000189184	ENSG00000189184		"Cadherins / Protocadherins : Non-clustered"	14268	protein-coding gene	gene with protein product		608287				10835267, 11549318	Standard	XM_005263070		Approved	KIAA1562, PCDH68L	uc003ihe.4	Q9HCL0	OTTHUMG00000161348	ENST00000344876.4:c.1754C>T	4.37:g.138451489G>A	ENSP00000355082:p.Thr585Met					PCDH18_ENST00000507846.1_Missense_Mutation_p.T365M|PCDH18_ENST00000511115.1_Intron|PCDH18_ENST00000412923.2_Missense_Mutation_p.T585M|PCDH18_ENST00000510305.1_Intron	p.T585M	NM_019035.3	NP_061908.1	Q9HCL0	PCD18_HUMAN			1	2140	-	all_hematologic(180;0.24)		585			Cadherin 6.		A8K7K3|B7ZKT1|Q52LS2	Missense_Mutation	SNP	ENST00000344876.4	37	c.1754C>T	CCDS34064.1	.	.	.	.	.	.	.	.	.	.	G	16.72	3.202711	0.58234	.	.	ENSG00000189184	ENST00000344876;ENST00000412923;ENST00000507846	T;T;T	0.59906	0.23;0.23;0.23	5.93	5.93	0.95920	Cadherin (2);Cadherin-like (1);	0.000000	0.44483	D	0.000441	T	0.76737	0.4029	M	0.68728	2.09	0.80722	D	1	D;P;D	0.89917	1.0;0.939;1.0	D;P;D	0.91635	0.998;0.669;0.999	T	0.77081	-0.2720	10	0.87932	D	0	.	20.3437	0.98782	0.0:0.0:1.0:0.0	.	365;585;585	D6RIG4;Q9HCL0-2;Q9HCL0	.;.;PCD18_HUMAN	M	585;585;365	ENSP00000355082:T585M;ENSP00000390688:T585M;ENSP00000425903:T365M	ENSP00000355082:T585M	T	-	2	0	PCDH18	138670939	1.000000	0.71417	0.723000	0.30687	0.817000	0.46193	9.802000	0.99131	2.802000	0.96397	0.563000	0.77884	ACG		0.468	PCDH18-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364614.1	NM_019035		9	425	0	0	0	1	0	9	425					A	138451489	G	A	138451489	3	1	21	1	0	0	0	0	1	0	0	0	11513	1145	40	1	1669	1	PCDH18	4	138451489	Missense_Mutation	SNP	G	TCGA-CH-5748-01A-11D-1576-08	89457473	138451489	52702787	14	837											
SNX18	112574	broad.mit.edu	37	chr5	53814839	53814839	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggacttcatctctaagcgcAggaagggcctgatctggtgg	9	9	14	9	1	3	1	1	1	2	0	4	3	3	3	1	5	1	1	1	5	2	2			TCGA-CH-5748-01A-11D-1576-08	TCGA-CH-5748-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b436546f-99a3-4f71-b1aa-8653fe9471ec	feca02f5-4ac6-4bff-8de2-4256809ab640	g.chr5:53814839A>T	ENST00000326277.3	+	1	1247	c.1057A>T	c.(1057-1059)Agg>Tgg	p.R353W	SNX18_ENST00000381410.4_Missense_Mutation_p.R353W|SNX18_ENST00000343017.6_Missense_Mutation_p.R353W	NM_052870.2	NP_443102.2	Q96RF0	SNX18_HUMAN	sorting nexin 18	353	PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.				cleavage furrow formation (GO:0036089)|endocytosis (GO:0006897)|endosomal transport (GO:0016197)|intracellular protein transport (GO:0006886)|mitotic cytokinesis (GO:0000281)|mitotic nuclear division (GO:0007067)|positive regulation of GTPase activity (GO:0043547)	cytoplasmic membrane-bounded vesicle (GO:0016023)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|growth cone (GO:0030426)|neuronal cell body (GO:0043025)	phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)	p.R353W(3)		endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)	18		Lung NSC(810;3.46e-05)|Breast(144;0.102)				CTCTAAGCGCAGGAAGGGCCT	0.652																																						ENST00000343017.6																			3	Substitution - Missense(3)	p.R353W(3)	prostate(3)	endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)	18						c.(1057-1059)Agg>Tgg		sorting nexin 18							28	33	32					5																	53814839		2202	4299	6501	SO:0001583	missense	112574				cell communication|endocytosis|positive regulation of GTPase activity|protein transport	endomembrane system|endosome membrane|extrinsic to internal side of plasma membrane	phosphatidylinositol binding|protein binding	g.chr5:53814839A>T	AF395536	CCDS3962.1, CCDS43317.1, CCDS54851.1	5q11.2	2010-05-12	2008-03-11	2008-03-11	ENSG00000178996	ENSG00000178996		"Sorting nexins"	19245	protein-coding gene	gene with protein product			"sorting nexin associated golgi protein 1"	SNAG1		16782399, 17761170	Standard	NM_052870		Approved	SH3PX2, SH3PXD3B	uc003jpi.4	Q96RF0	OTTHUMG00000096994	ENST00000326277.3:c.1057A>T	5.37:g.53814839A>T	ENSP00000317332:p.Arg353Trp					SNX18_ENST00000381410.4_Missense_Mutation_p.R353W|SNX18_ENST00000326277.3_Missense_Mutation_p.R353W	p.R353W	NM_001145427.1	NP_001138899.1	Q96RF0	SNX18_HUMAN			1	1251	+		Lung NSC(810;3.46e-05)|Breast(144;0.102)	353			PX.		B4E2B3|H7BXX3|Q05BB3|Q0VG02	Missense_Mutation	SNP	ENST00000326277.3	37	c.1057A>T	CCDS3962.1	.	.	.	.	.	.	.	.	.	.	A	18.24	3.580212	0.65992	.	.	ENSG00000178996	ENST00000343017;ENST00000381410;ENST00000326277	T;T;T	0.44083	0.93;0.93;0.93	4.87	-0.971	0.10303	Phox homologous domain (5);	0.104913	0.64402	D	0.000011	T	0.68137	0.2968	M	0.89968	3.075	0.49389	D	0.999783	D;D	0.76494	0.999;0.999	D;D	0.73708	0.975;0.981	T	0.77104	-0.2711	10	0.87932	D	0	-27.1511	17.156	0.86791	0.3265:0.6735:0.0:0.0	.	353;353	Q96RF0;Q96RF0-2	SNX18_HUMAN;.	W	353	ENSP00000342276:R353W;ENSP00000370817:R353W;ENSP00000317332:R353W	ENSP00000317332:R353W	R	+	1	2	SNX18	53850596	0.999000	0.42202	0.964000	0.40570	0.933000	0.57130	1.612000	0.36889	-0.300000	0.08895	0.455000	0.32223	AGG		0.652	SNX18-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000214072.2			7	64	0	0	0	1	0	7	64					T	53814839	A	T	53814839	3	4	21	1	0	0	0	0	1	0	0	0	14889	179	7	5	1059	5	SNX18	5	53814839	Missense_Mutation	SNP	A	TCGA-CH-5748-01A-11D-1576-08		53814839	127100421	15	838											
TTC37	9652	broad.mit.edu	37	chr5	94857934	94857934	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	tcaaggctgttgtgtagcctCctctgcttaagtatgcttct	6	16	9	10	0	3	0	1	0	2	0	4	0	4	0	2	1	3	6	2	1	4	5			TCGA-CH-5748-01A-11D-1576-08	TCGA-CH-5748-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b436546f-99a3-4f71-b1aa-8653fe9471ec	feca02f5-4ac6-4bff-8de2-4256809ab640	g.chr5:94857934C>G	ENST00000358746.2	-	19	2133	c.1835G>C	c.(1834-1836)gGa>gCa	p.G612A	RNU6-308P_ENST00000390957.1_RNA	NM_014639.3	NP_055454.1	Q6PGP7	TTC37_HUMAN	tetratricopeptide repeat domain 37	612						cytoplasm (GO:0005737)|nucleus (GO:0005634)|Ski complex (GO:0055087)|transcriptionally active chromatin (GO:0035327)		p.G612A(1)		breast(2)|endometrium(6)|kidney(3)|large_intestine(13)|liver(1)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	47						TGTGTAGCCTCCTCTGCTTAA	0.413																																						ENST00000358746.2																			1	Substitution - Missense(1)	p.G612A(1)	prostate(1)	breast(2)|endometrium(6)|kidney(3)|large_intestine(13)|liver(1)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	47						c.(1834-1836)gGa>gCa		tetratricopeptide repeat domain 37							194	168	177					5																	94857934		2203	4300	6503	SO:0001583	missense	9652						binding	g.chr5:94857934C>G	AB002370	CCDS4072.1	5q15	2014-09-17	2008-06-11	2008-06-11	ENSG00000198677	ENSG00000198677		"Tetratricopeptide (TTC) repeat domain containing"	23639	protein-coding gene	gene with protein product		614589	"KIAA0372"	KIAA0372		9205841	Standard	NM_014639		Approved		uc003klb.3	Q6PGP7	OTTHUMG00000121165	ENST00000358746.2:c.1835G>C	5.37:g.94857934C>G	ENSP00000351596:p.Gly612Ala						p.G612A	NM_014639.3	NP_055454.1	Q6PGP7	TTC37_HUMAN			19	2133	-			612					O15077|Q6PJI3	Missense_Mutation	SNP	ENST00000358746.2	37	c.1835G>C	CCDS4072.1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.355579	0.82243	.	.	ENSG00000198677	ENST00000358746;ENST00000514952	T;T	0.70986	-0.53;-0.53	4.72	4.72	0.59763	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.059335	0.64402	D	0.000002	D	0.87018	0.6073	M	0.90425	3.115	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79108	0.991;0.992	D	0.89606	0.3838	10	0.59425	D	0.04	.	18.0693	0.89400	0.0:1.0:0.0:0.0	.	564;612	D6RCE2;Q6PGP7	.;TTC37_HUMAN	A	612;564	ENSP00000351596:G612A;ENSP00000423742:G564A	ENSP00000351596:G612A	G	-	2	0	TTC37	94883690	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	5.642000	0.67888	2.336000	0.79503	0.467000	0.42956	GGA		0.413	TTC37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241651.1	NM_014639		19	137	0	0	0	1	0	19	137					G	94857934	C	G	94857934	3	3	21	1	0	0	0	0	1	0	0	0	16702	855	30	5	2959	5	TTC37	5	94857934	Missense_Mutation	SNP	C	TCGA-CH-5748-01A-11D-1576-08	41043095	94857934	86057326	16	839											
SLC25A2	83884	broad.mit.edu	37	chr5	140682861	140682861	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aaaacgatcggctcagttcaTagccaccaaagaaaaagaaa	20	5	7	9	2	2	2	2	0	0	2	3	3	2	2	2	1	2	2	2	1	7	2			TCGA-CH-5748-01A-11D-1576-08	TCGA-CH-5748-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b436546f-99a3-4f71-b1aa-8653fe9471ec	feca02f5-4ac6-4bff-8de2-4256809ab640	g.chr5:140682861T>C	ENST00000239451.4	-	1	751	c.572A>G	c.(571-573)tAt>tGt	p.Y191C		NM_031947.2	NP_114153.1	Q9BXI2	ORNT2_HUMAN	solute carrier family 25 (mitochondrial carrier; ornithine transporter) member 2	191					cellular nitrogen compound metabolic process (GO:0034641)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)|urea cycle (GO:0000050)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)		p.Y191C(1)		breast(3)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	19		all_lung(500;0.000249)|Lung NSC(810;0.0011)|Ovarian(839;0.00556)|Breast(839;0.0173)|all_hematologic(541;0.152)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;0.00204)	L-Ornithine(DB00129)	GCTCAGTTCATAGCCACCAAA	0.458																																						ENST00000239451.4																			1	Substitution - Missense(1)	p.Y191C(1)	prostate(1)	breast(3)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	19						c.(571-573)tAt>tGt		solute carrier family 25 (mitochondrial carrier; ornithine transporter) member 2	L-Ornithine(DB00129)						85	89	87					5																	140682861		2203	4300	6503	SO:0001583	missense	83884				mitochondrial ornithine transport|urea cycle	integral to membrane|mitochondrial inner membrane	L-ornithine transmembrane transporter activity	g.chr5:140682861T>C	AF332005	CCDS4258.1	5q31.3	2013-05-22			ENSG00000120329	ENSG00000120329		"Solute carriers"	22921	protein-coding gene	gene with protein product		608157				11004451	Standard	NM_031947		Approved	ORNT2	uc003ljf.3	Q9BXI2	OTTHUMG00000129604	ENST00000239451.4:c.572A>G	5.37:g.140682861T>C	ENSP00000239451:p.Tyr191Cys						p.Y191C	NM_031947.2	NP_114153.1	Q9BXI2	ORNT2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;0.00204)	1	751	-		all_lung(500;0.000249)|Lung NSC(810;0.0011)|Ovarian(839;0.00556)|Breast(839;0.0173)|all_hematologic(541;0.152)	191					Q496C1|Q6XUI0|Q8NFZ2	Missense_Mutation	SNP	ENST00000239451.4	37	c.572A>G	CCDS4258.1	.	.	.	.	.	.	.	.	.	.	T	16.00	2.999048	0.54147	.	.	ENSG00000120329	ENST00000239451	D	0.84944	-1.92	3.78	2.6	0.31112	Mitochondrial carrier domain (2);	0.000000	0.85682	D	0.000000	D	0.93252	0.7850	H	0.95437	3.67	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.92221	0.5784	10	0.87932	D	0	0.0086	7.7191	0.28721	0.0:0.105:0.0:0.895	.	191	Q9BXI2	ORNT2_HUMAN	C	191	ENSP00000239451:Y191C	ENSP00000239451:Y191C	Y	-	2	0	SLC25A2	140663045	1.000000	0.71417	1.000000	0.80357	0.794000	0.44872	6.579000	0.74036	0.813000	0.34350	0.528000	0.53228	TAT		0.458	SLC25A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251799.2	NM_031947		12	122	0	0	0	1	0	12	122					C	140682861	T	C	140682861	3	2	21	1	0	0	0	0	1	0	0	0	14482	1406	49	4	337	4	SLC25A2	5	140682861	Missense_Mutation	SNP	T	TCGA-CH-5748-01A-11D-1576-08	45824927	140682861	40232399	17	840											
EYS	346007	broad.mit.edu	37	chr6	66205253	66205253	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	catgtttttccatttatgaaAgagctgtgaaaaaccatcag	14	13	7	7	0	1	3	1	2	0	1	2	3	2	3	2	0	2	2	2	0	4	4			TCGA-CH-5748-01A-11D-1576-08	TCGA-CH-5748-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b436546f-99a3-4f71-b1aa-8653fe9471ec	feca02f5-4ac6-4bff-8de2-4256809ab640	g.chr6:66205253A>T	ENST00000370621.3	-	4	577	c.51T>A	c.(49-51)tcT>tcA	p.S17S	EYS_ENST00000342421.5_Silent_p.S17S|EYS_ENST00000503581.1_Silent_p.S17S|EYS_ENST00000370616.2_Silent_p.S17S|EYS_ENST00000393380.2_Silent_p.S17S|EYS_ENST00000370618.3_Silent_p.S17S			Q5T1H1	EYS_HUMAN	eyes shut homolog (Drosophila)	17					detection of light stimulus involved in visual perception (GO:0050908)|skeletal muscle tissue regeneration (GO:0043403)	extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						CATTTATGAAAGAGCTGTGAA	0.378																																						ENST00000503581.1																			0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						c.(49-51)tcT>tcA		eyes shut homolog (Drosophila)							70	70	70					6																	66205253		2203	4300	6503	SO:0001819	synonymous_variant	346007				response to stimulus|visual perception	extracellular region	calcium ion binding	g.chr6:66205253A>T		CCDS4967.1, CCDS47445.1, CCDS47446.1	6q12	2014-01-28	2008-10-20	2008-10-20	ENSG00000188107	ENSG00000188107			21555	protein-coding gene	gene with protein product		612424	"chromosome 6 open reading frame 180", "EGF-like-domain, multiple 11", "retinitis pigmentosa 25 (autosomal recessive)", "EGF-like-domain, multiple 10", "chromosome 6 open reading frame 178", "chromosome 6 open reading frame 179"	C6orf180, EGFL11, RP25, EGFL10, C6orf178, C6orf179		18836446, 18976725	Standard	NM_001142800		Approved	dJ1018A4.2, bA166P24.2, SPAM, bA307F22.3, dJ303F19.1, bA74E24.1	uc011dxu.1	Q5T1H1	OTTHUMG00000014971	ENST00000370621.3:c.51T>A	6.37:g.66205253A>T						EYS_ENST00000342421.5_Silent_p.S17S|EYS_ENST00000393380.2_Silent_p.S17S|EYS_ENST00000370616.2_Silent_p.S17S|EYS_ENST00000370618.3_Silent_p.S17S|EYS_ENST00000370621.3_Silent_p.S17S	p.S17S	NM_001142800.1	NP_001136272.1	Q5T1H1	EYS_HUMAN			4	588	-			17					A2RUR2|A8MVE7|B7TYK8|B7UUQ3|B7ZBE7|B7ZBE8|B7ZBR3|B9ZVD2|Q5SZM4|Q5T3C8|Q5T669|Q5TEL3|Q5TEL4|Q5VVG4|Q6UY05|Q9H557|Q9NQ15	Silent	SNP	ENST00000370621.3	37	c.51T>A																																																																																					0.378	EYS-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000351351.3	XM_294050		16	95	0	0	0	1	0	16	95					T	66205253	A	T	66205253	2	4	21	1	0	0	0	0	0	0	0	1	5332	59	3	5		5	EYS	6	66205253	Silent	SNP	A	TCGA-CH-5748-01A-11D-1576-08		66205253	104909814	18	841											
HTR1E	3354	broad.mit.edu	37	chr6	87725481	87725481	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aagagggccgcgctgatgatCcttaccgtctggaccatctc	8	9	11	13	3	2	3	0	2	2	1	4	4	3	4	4	2	1	1	4	2	2	1			TCGA-CH-5748-01A-11D-1576-08	TCGA-CH-5748-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b436546f-99a3-4f71-b1aa-8653fe9471ec	feca02f5-4ac6-4bff-8de2-4256809ab640	g.chr6:87725481C>A	ENST00000305344.5	+	2	1132	c.429C>A	c.(427-429)atC>atA	p.I143I		NM_000865.2	NP_000856.1	P28566	5HT1E_HUMAN	5-hydroxytryptamine (serotonin) receptor 1E, G protein-coupled	143					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|negative regulation of cAMP metabolic process (GO:0030815)|serotonin receptor signaling pathway (GO:0007210)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)	p.I143I(1)		breast(3)|endometrium(2)|kidney(3)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(3)	41		all_cancers(76;7.11e-06)|Acute lymphoblastic leukemia(125;1.2e-09)|Prostate(29;3.51e-09)|all_hematologic(105;7.43e-06)|all_epithelial(107;0.00819)		BRCA - Breast invasive adenocarcinoma(108;0.055)	Aripiprazole(DB01238)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Ketamine(DB01221)|Loxapine(DB00408)|Methysergide(DB00247)|Olanzapine(DB00334)|Quetiapine(DB01224)|Ziprasidone(DB00246)	CGCTGATGATCCTTACCGTCT	0.582																																						ENST00000305344.4																			1	Substitution - coding silent(1)	p.I143I(1)	prostate(1)	breast(3)|endometrium(2)|kidney(3)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(3)	41						c.(427-429)atC>atA		5-hydroxytryptamine (serotonin) receptor 1E, G protein-coupled	Eletriptan(DB00216)						111	95	100					6																	87725481		2203	4300	6503	SO:0001819	synonymous_variant	3354				G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	protein binding|serotonin binding|serotonin receptor activity	g.chr6:87725481C>A		CCDS5006.1	6q14-q15	2013-06-19	2012-02-03		ENSG00000168830	ENSG00000168830		"5-HT (serotonin) receptors", "GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"	5291	protein-coding gene	gene with protein product		182132	"5-hydroxytryptamine (serotonin) receptor 1E"			1608964	Standard	NM_000865		Approved	5-HT1E	uc003pli.3	P28566	OTTHUMG00000015154	ENST00000305344.5:c.429C>A	6.37:g.87725481C>A						HTR1E_ENST00000369584.1_Silent_p.I143I	p.I143I	NM_000865.2	NP_000856.1	P28566	5HT1E_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.055)	2	1132	+		all_cancers(76;7.11e-06)|Acute lymphoblastic leukemia(125;1.2e-09)|Prostate(29;3.51e-09)|all_hematologic(105;7.43e-06)|all_epithelial(107;0.00819)	143					E1P503|Q9P1Y1	Silent	SNP	ENST00000305344.5	37	c.429C>A	CCDS5006.1																																																																																				0.582	HTR1E-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000472488.2	NM_000865		12	83	1	0	7.03913e-09	1	7.03913e-09	12	83					A	87725481	C	A	87725481	2	1	21	1	0	0	0	0	0	0	0	1	7439	845	30	5		5	HTR1E	6	87725481	Silent	SNP	C	TCGA-CH-5748-01A-11D-1576-08	21520228	87725481	83389586	19	842											
MUC17	140453	broad.mit.edu	37	chr7	100675944	100675944	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggctagcaccacttcaacaaTtcctgttgactccaaaactt	12	11	5	13	0	1	1	1	1	0	0	3	1	3	1	3	1	3	3	3	1	5	5			TCGA-CH-5748-01A-11D-1576-08	TCGA-CH-5748-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b436546f-99a3-4f71-b1aa-8653fe9471ec	feca02f5-4ac6-4bff-8de2-4256809ab640	g.chr7:100675944T>A	ENST00000306151.4	+	3	1311	c.1247T>A	c.(1246-1248)aTt>aAt	p.I416N		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	416	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)	p.I416N(1)		NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					ACTTCAACAATTCCTGTTGAC	0.458																																						ENST00000306151.4																			1	Substitution - Missense(1)	p.I416N(1)	prostate(1)	NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343						c.(1246-1248)aTt>aAt		mucin 17, cell surface associated							191	198	196					7																	100675944		2203	4300	6503	SO:0001583	missense	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100675944T>A	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"Mucins"	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.1247T>A	7.37:g.100675944T>A	ENSP00000302716:p.Ile416Asn						p.I416N	NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN			3	1311	+	Lung NSC(181;0.136)|all_lung(186;0.182)		416			59 X approximate tandem repeats.|Ser-rich.		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	c.1247T>A	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	C	2.229	-0.376491	0.05000	.	.	ENSG00000169876	ENST00000306151	T	0.02709	4.19	1.22	-1.04	0.10068	.	.	.	.	.	T	0.01523	0.0049	N	0.08118	0	0.09310	N	1	B	0.18166	0.026	B	0.08055	0.003	T	0.48581	-0.9023	9	0.23302	T	0.38	.	6.3649	0.21449	0.0:0.5196:0.0:0.4804	.	416	Q685J3	MUC17_HUMAN	N	416	ENSP00000302716:I416N	ENSP00000302716:I416N	I	+	2	0	MUC17	100462664	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.975000	0.03790	-0.919000	0.03803	-1.686000	0.00732	ATT		0.458	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		7	276	0	0	0	1	0	7	276					A	100675944	T	A	100675944	3	1	21	1	0	0	0	0	1	0	0	0	9974	1493	52	5	1257	5	MUC17	7	100675944	Missense_Mutation	SNP	T	TCGA-CH-5748-01A-11D-1576-08		100675944	58462719	20	843											
SCARA5	286133	broad.mit.edu	37	chr8	27762295	27762295	+	Splice_Site	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccccagcagaatgtccttacTggcatccccagctctgtctc	7	10	7	17	0	2	1	0	0	2	1	5	1	4	1	5	1	3	3	5	1	2	1			TCGA-CH-5748-01A-11D-1576-08	TCGA-CH-5748-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b436546f-99a3-4f71-b1aa-8653fe9471ec	feca02f5-4ac6-4bff-8de2-4256809ab640	g.chr8:27762295T>G	ENST00000354914.3	-	7	1638	c.1153A>C	c.(1153-1155)Agt>Cgt	p.S385R	RP11-597M17.1_ENST00000517735.1_RNA|SCARA5_ENST00000518030.1_Missense_Mutation_p.S342R|SCARA5_ENST00000380385.2_Splice_Site_p.S160R|SCARA5_ENST00000524352.1_Missense_Mutation_p.S385R|SCARA5_ENST00000301906.4_Missense_Mutation_p.S342R	NM_173833.5	NP_776194.2	Q6ZMJ2	SCAR5_HUMAN	scavenger receptor class A, member 5	385					cellular iron ion homeostasis (GO:0006879)|cellular response to heat (GO:0034605)|endocytosis (GO:0006897)|iron ion transmembrane transport (GO:0034755)|protein homotrimerization (GO:0070207)|receptor-mediated endocytosis (GO:0006898)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)	ferritin receptor activity (GO:0070287)|scavenger receptor activity (GO:0005044)	p.S385R(1)		central_nervous_system(1)|large_intestine(6)|lung(5)|prostate(3)|skin(3)	18		Ovarian(32;0.0218)		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)|Colorectal(74;0.228)		ATGTCCTTACTGGCATCCCCA	0.532																																						ENST00000524352.1																			1	Substitution - Missense(1)	p.S385R(1)	prostate(1)	central_nervous_system(1)|large_intestine(6)|lung(5)|prostate(3)|skin(3)	18						c.(1153-1155)Agt>Cgt		scavenger receptor class A, member 5 (putative)							140	111	121					8																	27762295		2203	4300	6503	SO:0001630	splice_region_variant	286133				cellular iron ion homeostasis|endocytosis|iron ion transmembrane transport|protein homotrimerization	integral to plasma membrane	ferritin receptor activity|scavenger receptor activity	g.chr8:27762295T>G	AK172746	CCDS6064.1	8p21.1	2014-07-08	2014-07-08		ENSG00000168079	ENSG00000168079			28701	protein-coding gene	gene with protein product		611306	"scavenger receptor class A, member 5 (putative)"			19154717	Standard	NM_173833		Approved	FLJ23907, MGC45780, NET33	uc003xgj.3	Q6ZMJ2	OTTHUMG00000132172	ENST00000354914.3:c.1153+1A>C	8.37:g.27762295T>G						SCARA5_ENST00000518030.1_Missense_Mutation_p.S342R|SCARA5_ENST00000301906.4_Missense_Mutation_p.S342R|SCARA5_ENST00000380385.2_Splice_Site_p.S160_splice|SCARA5_ENST00000354914.3_Splice_Site_p.S385_splice|RP11-597M17.1_ENST00000517735.1_RNA	p.S385R			Q6ZMJ2	SCAR5_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)|Colorectal(74;0.228)	7	1535	-		Ovarian(32;0.0218)	385					Q6UXZ1|Q7Z4A1|Q8N4Z7	Missense_Mutation	SNP	ENST00000354914.3	37	c.1153A>C	CCDS6064.1	.	.	.	.	.	.	.	.	.	.	T	10.52	1.373034	0.24857	.	.	ENSG00000168079	ENST00000354914;ENST00000380385;ENST00000517320;ENST00000524352;ENST00000518030;ENST00000301906	D;D;D;D;D	0.91068	-2.4;-2.37;-2.78;-2.69;-2.69	4.18	-1.52	0.08637	.	0.900193	0.09628	N	0.776595	T	0.81550	0.4846	N	0.08118	0	0.29271	N	0.870654	B;P;P;B	0.35656	0.226;0.514;0.514;0.022	B;B;B;B	0.41332	0.178;0.354;0.354;0.053	T	0.74150	-0.3758	10	0.62326	D	0.03	.	8.5634	0.33525	0.0:0.5745:0.0:0.4255	.	160;385;342;385	Q6ZMJ2-4;Q6ZMJ2-2;Q6ZMJ2-3;Q6ZMJ2	.;.;.;SCAR5_HUMAN	R	385;160;185;385;342;342	ENSP00000346990:S385R;ENSP00000369746:S160R;ENSP00000428663:S385R;ENSP00000430713:S342R;ENSP00000301906:S342R	ENSP00000301906:S342R	S	-	1	0	SCARA5	27818214	0.406000	0.25344	0.872000	0.34217	0.484000	0.33280	-0.071000	0.11505	-0.242000	0.09667	-0.250000	0.11733	AGT		0.532	SCARA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255223.2	NM_173833	Missense_Mutation	6	51	0	0	0	1	0	6	51					G	27762295	T	G	27762295	5	3	21	1	0	0	0	0	0	0	1	0	13880	1594	55	5	346	5	SCARA5	8	27762295	Splice_Site	SNP	T	TCGA-CH-5748-01A-11D-1576-08		27762295	118601727	21	844											
PRKDC	5591	broad.mit.edu	37	chr8	48811034	48811034	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	aagcaagatcacctaccgcgGcaaacgtcgtttctttgctt	10	11	8	12	4	2	1	1	0	1	1	3	1	2	1	2	1	4	4	2	1	4	4			TCGA-CH-5748-01A-11D-1576-08	TCGA-CH-5748-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b436546f-99a3-4f71-b1aa-8653fe9471ec	feca02f5-4ac6-4bff-8de2-4256809ab640	g.chr8:48811034G>A	ENST00000314191.2	-	29	3516	c.3460C>T	c.(3460-3462)Ccg>Tcg	p.P1154S	PRKDC_ENST00000523565.1_5'UTR|PRKDC_ENST00000338368.3_Missense_Mutation_p.P1154S	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	1154					B cell lineage commitment (GO:0002326)|brain development (GO:0007420)|cellular protein modification process (GO:0006464)|cellular response to insulin stimulus (GO:0032869)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|ectopic germ cell programmed cell death (GO:0035234)|heart development (GO:0007507)|immunoglobulin V(D)J recombination (GO:0033152)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of protein phosphorylation (GO:0001933)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|pro-B cell differentiation (GO:0002328)|protein destabilization (GO:0031648)|regulation of circadian rhythm (GO:0042752)|response to gamma radiation (GO:0010332)|rhythmic process (GO:0048511)|signal transduction involved in mitotic G1 DNA damage checkpoint (GO:0072431)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell receptor V(D)J recombination (GO:0033153)|telomere maintenance (GO:0000723)	cytosol (GO:0005829)|DNA-dependent protein kinase-DNA ligase 4 complex (GO:0005958)|membrane (GO:0016020)|nonhomologous end joining complex (GO:0070419)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transcription factor binding (GO:0008134)	p.P1154S(2)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)			Caffeine(DB00201)	ACCTACCGCGGCAAACGTCGT	0.403								Non-homologous end-joining																													Esophageal Squamous(79;1091 1253 12329 31680 40677)	ENST00000314191.2																			2	Substitution - Missense(2)	p.P1154S(2)	prostate(2)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147						c.(3460-3462)Ccg>Tcg	Non-homologous end-joining	protein kinase, DNA-activated, catalytic polypeptide							95	94	94					8																	48811034		1894	4109	6003	SO:0001583	missense	5591				cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding	g.chr8:48811034G>A		CCDS75734.1, CCDS75735.1	8q11	2014-09-17				ENSG00000253729	2.7.11.1		9413	protein-coding gene	gene with protein product		600899		HYRC, HYRC1		7638222	Standard	NM_001081640		Approved	DNPK1, p350, DNAPK, XRCC7, DNA-PKcs	uc003xqi.3	P78527		ENST00000314191.2:c.3460C>T	8.37:g.48811034G>A	ENSP00000313420:p.Pro1154Ser					PRKDC_ENST00000523565.1_5'UTR|PRKDC_ENST00000338368.3_Missense_Mutation_p.P1154S	p.P1154S	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN			29	3516	-		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)	1154					P78528|Q13327|Q13337|Q14175|Q59H99|Q7Z611|Q96SE6|Q9UME3	Missense_Mutation	SNP	ENST00000314191.2	37	c.3460C>T		.	.	.	.	.	.	.	.	.	.	G	19.66	3.869459	0.72065	.	.	ENSG00000253729	ENST00000314191;ENST00000338368	T;T	0.03124	4.11;4.04	5.46	5.46	0.80206	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.09555	0.0235	.	.	.	0.80722	D	1	P;P	0.47302	0.893;0.893	P;B	0.46275	0.51;0.328	T	0.01027	-1.1476	9	0.72032	D	0.01	.	19.3005	0.94143	0.0:0.0:1.0:0.0	.	1154;1154	E7EUY0;P78527	.;PRKDC_HUMAN	S	1154	ENSP00000313420:P1154S;ENSP00000345182:P1154S	ENSP00000313420:P1154S	P	-	1	0	PRKDC	48973587	1.000000	0.71417	0.404000	0.26397	0.811000	0.45836	8.487000	0.90454	2.567000	0.86603	0.557000	0.71058	CCG		0.403	PRKDC-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001081640		3	7	0	0	0	1	0	3	7					A	48811034	G	A	48811034	3	1	21	1	0	0	0	0	1	0	0	0	12521	1203	42	3	9157	3	PRKDC	8	48811034	Missense_Mutation	SNP	G	TCGA-CH-5748-01A-11D-1576-08	21048739	48811034	97552988	22	845											
ZNF658	26149	broad.mit.edu	37	chr9	40772246	40772246	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtgaattctctggtgtactCtgagagttgaattttgggca	8	16	12	5	0	2	3	0	3	2	1	3	4	2	3	0	2	1	3	0	2	3	5			TCGA-CH-5748-01A-11D-1576-08	TCGA-CH-5748-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b436546f-99a3-4f71-b1aa-8653fe9471ec	feca02f5-4ac6-4bff-8de2-4256809ab640	g.chr9:40772246C>A	ENST00000602553.1	-	5	3323	c.3029G>T	c.(3028-3030)aGa>aTa	p.R1010I	ZNF658_ENST00000377626.3_Missense_Mutation_p.R1010I|ZNF658_ENST00000441795.1_Intron			Q5TYW1	ZN658_HUMAN	zinc finger protein 658	1010					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R1010I(1)		breast(3)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	46				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		CTGGTGTACTCTGAGAGTTGA	0.443																																						ENST00000602553.1																			1	Substitution - Missense(1)	p.R1010I(1)	prostate(1)	breast(3)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	46						c.(3028-3030)aGa>aTa		zinc finger protein 658							23	36	32					9																	40772246		1477	3726	5203	SO:0001583	missense	26149				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:40772246C>A	AA482262	CCDS75846.1	9p13.1	2013-01-08			ENSG00000196409	ENSG00000274349		"Zinc fingers, C2H2-type", "-"	25226	protein-coding gene	gene with protein product							Standard	NM_033160		Approved	MGC35232, DKFZp572C163, FLJ32813	uc004abs.2	Q5TYW1	OTTHUMG00000013392	ENST00000602553.1:c.3029G>T	9.37:g.40772246C>A	ENSP00000473484:p.Arg1010Ile					ZNF658_ENST00000441795.1_Intron|ZNF658_ENST00000377626.3_Missense_Mutation_p.R1010I	p.R1010I			Q5TYW1	ZN658_HUMAN		GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)	5	3323	-			1010					Q6PIP3|Q96M55|Q9H9S6|Q9UG02	Missense_Mutation	SNP	ENST00000602553.1	37	c.3029G>T	CCDS35023.1	.	.	.	.	.	.	.	.	.	.	c	7.847	0.723099	0.15439	.	.	ENSG00000196409	ENST00000377626	T	0.07567	3.18	2.05	-1.76	0.08006	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.03220	0.0094	N	0.17312	0.475	0.09310	N	1	B	0.24618	0.107	B	0.14578	0.011	T	0.45352	-0.9267	9	0.10902	T	0.67	.	0.9686	0.01411	0.3985:0.2652:0.197:0.1393	.	1010	Q5TYW1	ZN658_HUMAN	I	1010	ENSP00000366853:R1010I	ENSP00000366853:R1010I	R	-	2	0	ZNF658	40762246	0.000000	0.05858	0.000000	0.03702	0.917000	0.54804	-4.841000	0.00179	-0.400000	0.07656	0.518000	0.50308	AGA		0.443	ZNF658-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467800.1	NM_033160		33	146	1	0	4.31865e-32	1	4.38408e-32	33	146					A	40772246	C	A	40772246	3	1	21	1	0	0	0	0	1	0	0	0	18066	913	32	5	154	5	ZNF658	9	40772246	Missense_Mutation	SNP	C	TCGA-CH-5748-01A-11D-1576-08		40772246	100441185	23	846											
ROR2	4920	broad.mit.edu	37	chr9	94495690	94495690	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gagcactggtccgacaggtgCgtagacgtgccgatcatggt	8	8	15	10	4	1	1	1	0	0	1	2	4	2	1	2	3	3	2	2	3	1	1			TCGA-CH-5748-01A-11D-1576-08	TCGA-CH-5748-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b436546f-99a3-4f71-b1aa-8653fe9471ec	feca02f5-4ac6-4bff-8de2-4256809ab640	g.chr9:94495690C>T	ENST00000375708.3	-	6	849	c.651G>A	c.(649-651)acG>acA	p.T217T	ROR2_ENST00000375715.1_Silent_p.T77T|ROR2_ENST00000550066.1_5'UTR	NM_004560.3	NP_004551.2	Q01974	ROR2_HUMAN	receptor tyrosine kinase-like orphan receptor 2	217	FZ. {ECO:0000255|PROSITE- ProRule:PRU00090}.				cartilage condensation (GO:0001502)|cell differentiation (GO:0030154)|embryonic genitalia morphogenesis (GO:0030538)|inner ear morphogenesis (GO:0042472)|JNK cascade (GO:0007254)|multicellular organismal development (GO:0007275)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell migration (GO:0030335)|positive regulation of transcription, DNA-templated (GO:0045893)|signal transduction (GO:0007165)|somitogenesis (GO:0001756)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|Wnt signaling pathway, calcium modulating pathway (GO:0007223)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	clathrin-coated endocytic vesicle membrane (GO:0030669)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|Wnt-protein binding (GO:0017147)	p.T217T(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						CCGACAGGTGCGTAGACGTGC	0.647																																						ENST00000375708.3																			1	Substitution - coding silent(1)	p.T217T(1)	prostate(1)	autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						c.(649-651)acG>acA		receptor tyrosine kinase-like orphan receptor 2							43	42	43					9																	94495690		2203	4300	6503	SO:0001819	synonymous_variant	4920				negative regulation of cell proliferation|positive regulation of cell migration|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding	g.chr9:94495690C>T	M97639	CCDS6691.1	9q22	2013-01-11			ENSG00000169071	ENSG00000169071		"Immunoglobulin superfamily / I-set domain containing"	10257	protein-coding gene	gene with protein product		602337		NTRKR2, BDB, BDB1		1334494, 10700182	Standard	NM_004560		Approved		uc004arj.2	Q01974	OTTHUMG00000020211	ENST00000375708.3:c.651G>A	9.37:g.94495690C>T						ROR2_ENST00000550066.1_5'UTR|ROR2_ENST00000375715.1_Silent_p.T77T	p.T217T	NM_004560.3	NP_004551.2	Q01974	ROR2_HUMAN			6	849	-			217			FZ.		Q59GF5|Q5SPI5|Q9HAY7|Q9HB61	Silent	SNP	ENST00000375708.3	37	c.651G>A	CCDS6691.1																																																																																				0.647	ROR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053040.1			3	34	0	0	0	1	0	3	34					T	94495690	C	T	94495690	2	4	21	1	0	0	0	0	0	0	0	1	13527	755	27	1		1	ROR2	9	94495690	Silent	SNP	C	TCGA-CH-5748-01A-11D-1576-08	53723444	94495690	46717741	24	847											
DBC1	1620	broad.mit.edu	37	chr9	121971070	121971070	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaaaagcttgcgggcagtgcGttggatcttttgtctctgtg	6	14	14	7	2	2	0	0	0	2	0	3	2	2	1	0	2	3	3	0	2	2	4	rs540545974	byFrequency	TCGA-CH-5748-01A-11D-1576-08	TCGA-CH-5748-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b436546f-99a3-4f71-b1aa-8653fe9471ec	feca02f5-4ac6-4bff-8de2-4256809ab640	g.chr9:121971070G>A	ENST00000265922.3	-	7	1533	c.1072C>T	c.(1072-1074)Cgc>Tgc	p.R358C	BRINP1_ENST00000482797.1_5'UTR	NM_014618.2	NP_055433.2	O60477	BRNP1_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 1	358			R -> H (common polymorphism; dbSNP:rs17476783). {ECO:0000269|PubMed:11420708}.		cell cycle arrest (GO:0007050)|cell death (GO:0008219)|cellular response to retinoic acid (GO:0071300)|negative regulation of cell cycle (GO:0045786)|negative regulation of mitotic cell cycle (GO:0045930)|positive regulation of neuron differentiation (GO:0045666)	cytoplasm (GO:0005737)		p.R358C(1)									CGGGCAGTGCGTTGGATCTTT	0.577													G|||	2	0.000399361	0	0	5008	,	,		18993	0.001		0	False		,,,				2504	0.001					ENST00000265922.3																			1	Substitution - Missense(1)	p.R358C(1)	prostate(1)	NS(1)|breast(3)|central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(15)|liver(1)|lung(34)|ovary(3)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	83						c.(1072-1074)Cgc>Tgc									221	184	196					9																	121971070		2203	4300	6503	SO:0001583	missense	0				cell cycle arrest|cell death	cytoplasm	protein binding	g.chr9:121971070G>A	AF027734	CCDS6822.1	9q32-q33	2013-08-06	2013-08-06	2013-07-31	ENSG00000078725	ENSG00000078725			2687	protein-coding gene	gene with protein product		602865	"deleted in bladder cancer chromosome region candidate 1", "deleted in bladder cancer 1"	DBCCR1, DBC1		9175739, 10444335, 15193422	Standard	NM_014618		Approved	FAM5A	uc004bkc.2	O60477	OTTHUMG00000021020	ENST00000265922.3:c.1072C>T	9.37:g.121971070G>A	ENSP00000265922:p.Arg358Cys					DBC1_ENST00000482797.1_5'UTR	p.R358C	NM_014618.2	NP_055433.2	O60477	DBC1_HUMAN			7	1533	-			358		R -> H (common polymorphism; dbSNP:rs17476783).			Q6IPV6|Q6P1A0|Q8WU22	Missense_Mutation	SNP	ENST00000265922.3	37	c.1072C>T	CCDS6822.1	.	.	.	.	.	.	.	.	.	.	G	18.04	3.535004	0.64972	.	.	ENSG00000078725	ENST00000373969;ENST00000265922	T	0.16897	2.31	5.79	4.89	0.63831	.	0.100392	0.64402	D	0.000002	T	0.23289	0.0563	L	0.57536	1.79	0.80722	D	1	D	0.61697	0.99	P	0.44597	0.454	T	0.03608	-1.1020	10	0.87932	D	0	-11.8241	15.5739	0.76359	0.0:0.0:0.8618:0.1382	.	358	O60477	DBC1_HUMAN	C	358	ENSP00000265922:R358C	ENSP00000265922:R358C	R	-	1	0	DBC1	121010891	1.000000	0.71417	0.986000	0.45419	0.995000	0.86356	5.299000	0.65716	1.421000	0.47157	0.650000	0.86243	CGC		0.577	BRINP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055440.2	NM_014618		7	87	0	0	0	1	0	7	87					A	121971070	G	A	121971070	3	1	21	1	0	0	0	0	1	0	0	0	4247	1145	40	1	1221	1	DBC1	9	121971070	Missense_Mutation	SNP	G	TCGA-CH-5748-01A-11D-1576-08	27475380	121971070	19242361	25	848											
KIAA0649	9858	broad.mit.edu	37	chr9	138378219	138378219	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aaagacggtagccaggatgcCgaccacagccaggggagagc	13	2	15	11	2	0	2	0	0	0	2	0	5	0	3	4	4	4	1	4	4	2	1	rs149069756		TCGA-CH-5748-01A-11D-1576-08	TCGA-CH-5748-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b436546f-99a3-4f71-b1aa-8653fe9471ec	feca02f5-4ac6-4bff-8de2-4256809ab640	g.chr9:138378219C>T	ENST00000356818.2	+	4	2412	c.1863C>T	c.(1861-1863)gcC>gcT	p.A621A	PPP1R26_ENST00000605286.1_Silent_p.A621A|PPP1R26_ENST00000605660.1_Silent_p.A621A|PPP1R26_ENST00000401470.3_Silent_p.A621A|PPP1R26_ENST00000604351.1_Silent_p.A621A|PPP1R26_ENST00000602993.1_Intron	NM_014811.3	NP_055626.3	Q5T8A7	PPR26_HUMAN	protein phosphatase 1, regulatory subunit 26	621					negative regulation of phosphatase activity (GO:0010923)	nucleus (GO:0005634)	phosphatase binding (GO:0019902)|protein phosphatase inhibitor activity (GO:0004864)	p.A621A(1)									GCCAGGATGCCGACCACAGCC	0.647																																						ENST00000356818.2																			1	Substitution - coding silent(1)	p.A621A(1)	prostate(1)								c.(1861-1863)gcC>gcT		protein phosphatase 1, regulatory subunit 26		C		1,4405		0,1,2202	31	34	33		1863	-5.7	0	9	dbSNP_134	33	0,8600		0,0,4300	no	coding-synonymous	KIAA0649	NM_014811.3		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		621/1210	138378219	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	9858					nucleolus	protein binding	g.chr9:138378219C>T	AB014549	CCDS6988.1	9q34.3	2012-04-17	2011-10-11	2011-10-11	ENSG00000196422	ENSG00000196422		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	29089	protein-coding gene	gene with protein product	"DRIM/UTP20 interacting protein", "1A6/DRIM (down-regulated in metastasis) interacting protein"	614056	"KIAA0649"	KIAA0649		9734811, 16053918	Standard	NM_014811		Approved		uc004cfr.1	Q5T8A7	OTTHUMG00000020904	ENST00000356818.2:c.1863C>T	9.37:g.138378219C>T						PPP1R26_ENST00000401470.3_Silent_p.A621A|PPP1R26_ENST00000605660.1_Silent_p.A621A|PPP1R26_ENST00000605286.1_Silent_p.A621A|PPP1R26_ENST00000604351.1_Silent_p.A621A|PPP1R26_ENST00000602993.1_Intron	p.A621A	NM_014811.3	NP_055626.3	Q5T8A7	K0649_HUMAN			4	2412	+			621					Q86WU0|Q8WVV0|Q9Y4D3	Silent	SNP	ENST00000356818.2	37	c.1863C>T	CCDS6988.1																																																																																				0.647	PPP1R26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054987.1	NM_014811		5	62	0	0	0	1	0	5	62					T	138378219	C	T	138378219	2	4	21	1	0	0	0	0	0	0	0	1	8187	639	23	2		2	KIAA0649	9	138378219	Silent	SNP	C	TCGA-CH-5748-01A-11D-1576-08	16407149	138378219	2835212	26	849											
RNLS	55328	broad.mit.edu	37	chr10	90342915	90342915	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcagcgcacaagcttcctgtCatcccggcgcccacgatcag	8	6	10	17	4	2	0	2	0	0	0	4	1	4	0	3	1	2	3	3	1	1	1			TCGA-CH-5748-01A-11D-1576-08	TCGA-CH-5748-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b436546f-99a3-4f71-b1aa-8653fe9471ec	feca02f5-4ac6-4bff-8de2-4256809ab640	g.chr10:90342915C>T	ENST00000331772.4	-	1	55	c.33G>A	c.(31-33)atG>atA	p.M11I	RNLS_ENST00000437752.1_Missense_Mutation_p.M11I|RNLS_ENST00000371947.3_Missense_Mutation_p.M11I|RNLS_ENST00000466945.1_5'UTR|Y_RNA_ENST00000364678.1_RNA	NM_001031709.2	NP_001026879.2	Q5VYX0	RNLS_HUMAN	renalase, FAD-dependent amine oxidase	11					cardiac left ventricle morphogenesis (GO:0003214)|dopamine metabolic process (GO:0042417)|epinephrine metabolic process (GO:0042414)|heart contraction (GO:0060047)|norepinephrine metabolic process (GO:0042415)|phosphate ion homeostasis (GO:0055062)|regulation of systemic arterial blood pressure (GO:0003073)|response to epinephrine (GO:0071871)|response to ischemia (GO:0002931)|response to norepinephrine (GO:0071873)|response to salt (GO:1902074)	extracellular space (GO:0005615)	oxidoreductase activity (GO:0016491)	p.M11I(1)		breast(1)|kidney(1)|lung(3)|ovary(1)|prostate(1)	7						AGCTTCCTGTCATCCCGGCGC	0.647											OREG0020353	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000371947.3																			1	Substitution - Missense(1)	p.M11I(1)	prostate(1)	breast(1)|kidney(1)|lung(3)|ovary(1)|prostate(1)	7						c.(31-33)atG>atA		renalase, FAD-dependent amine oxidase							52	49	50					10																	90342915		2203	4300	6503	SO:0001583	missense	55328					extracellular region	oxidoreductase activity	g.chr10:90342915C>T	BC005364	CCDS7388.1, CCDS31239.1	10q23.31	2009-04-22	2009-04-22	2009-04-22	ENSG00000184719	ENSG00000184719			25641	protein-coding gene	gene with protein product		609360	"chromosome 10 open reading frame 59"	C10orf59		15841207, 17565281	Standard	NM_001031709		Approved	FLJ11218, renalase	uc001kfe.3	Q5VYX0	OTTHUMG00000018692	ENST00000331772.4:c.33G>A	10.37:g.90342915C>T	ENSP00000332530:p.Met11Ile		OREG0020353	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1274	RNLS_ENST00000331772.4_Missense_Mutation_p.M11I|RNLS_ENST00000466945.1_5'UTR|RNLS_ENST00000437752.1_Missense_Mutation_p.M11I	p.M11I	NM_018363.3	NP_060833.1	Q5VYX0	RNLS_HUMAN			1	1372	-			11					Q9BS33|Q9NUP8	Missense_Mutation	SNP	ENST00000331772.4	37	c.33G>A	CCDS31239.1	.	.	.	.	.	.	.	.	.	.	C	12.29	1.894886	0.33442	.	.	ENSG00000184719	ENST00000371947;ENST00000437752;ENST00000331772	T;T;T	0.78707	-1.2;-1.2;-1.2	4.99	1.35	0.21983	.	0.197902	0.33772	N	0.004569	T	0.48978	0.1530	N	0.03304	-0.355	0.22710	N	0.998827	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.0;0.0;0.001	T	0.33033	-0.9884	10	0.12430	T	0.62	.	8.5163	0.33248	0.0:0.6746:0.136:0.1895	.	11;11;11	B4DJW3;Q5VYX0;Q5VYX0-2	.;RNLS_HUMAN;.	I	11	ENSP00000361015:M11I;ENSP00000387577:M11I;ENSP00000332530:M11I	ENSP00000332530:M11I	M	-	3	0	RNLS	90332895	0.995000	0.38212	0.994000	0.49952	0.848000	0.48234	0.134000	0.15932	0.363000	0.24346	0.462000	0.41574	ATG		0.647	RNLS-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049250.1	NM_018363		4	75	0	0	0	1	0	4	75					T	90342915	C	T	90342915	3	4	21	1	0	0	0	0	1	0	0	0	13505	826	29	3	1099	3	RNLS	10	90342915	Missense_Mutation	SNP	C	TCGA-CH-5748-01A-11D-1576-08		90342915	45191832	27	850											
SYCE1	93426	broad.mit.edu	37	chr10	135369308	135369308	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tggctgcagcctcctggctgCggagaaagagtccctcatca	8	8	12	13	1	2	2	2	0	0	2	4	3	4	2	3	3	3	3	3	3	1	0	rs150742469		TCGA-CH-5748-01A-11D-1576-08	TCGA-CH-5748-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b436546f-99a3-4f71-b1aa-8653fe9471ec	feca02f5-4ac6-4bff-8de2-4256809ab640	g.chr10:135369308C>T	ENST00000343131.5	-	10	799	c.695G>A	c.(694-696)cGc>cAc	p.R232H	SYCE1_ENST00000368517.3_Missense_Mutation_p.R196H|SYCE1_ENST00000432597.2_Missense_Mutation_p.R196H|SPRN_ENST00000541506.1_Intron	NM_001143764.1	NP_001137236.1	Q8N0S2	SYCE1_HUMAN	synaptonemal complex central element protein 1	232					synaptonemal complex assembly (GO:0007130)	central element (GO:0000801)		p.R232H(2)|p.R196H(2)		breast(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(2)|stomach(3)|urinary_tract(1)	19		all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)		CTCCTGGCTGCGGAGAAAGAG	0.642																																						ENST00000368517.3																			4	Substitution - Missense(4)	p.R232H(2)|p.R196H(2)	prostate(2)|lung(2)	breast(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(2)|stomach(3)|urinary_tract(1)	19						c.(586-588)cGc>cAc		synaptonemal complex central element protein 1		C	HIS/ARG,HIS/ARG,HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	41	43	43		695,695,587	3.5	1	10	dbSNP_134	43	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	SYCE1	NM_001143763.1,NM_001143764.1,NM_130784.2	29,29,29	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	probably-damaging,probably-damaging,probably-damaging	232/319,232/352,196/283	135369308	2,13004	2203	4300	6503	SO:0001583	missense	93426				cell division	central element		g.chr10:135369308C>T	AY027808	CCDS7687.1, CCDS44500.1, CCDS44501.1	10q26.3	2009-03-12	2005-09-27	2005-09-27	ENSG00000171772	ENSG00000171772			28852	protein-coding gene	gene with protein product	"cancer/testis antigen 76"	611486	"chromosome 10 open reading frame 94"	C10orf94		11829491	Standard	NM_130784		Approved	bA108K14.6, CT76	uc001lno.2	Q8N0S2	OTTHUMG00000019321	ENST00000343131.5:c.695G>A	10.37:g.135369308C>T	ENSP00000341282:p.Arg232His					SPRN_ENST00000541506.1_Intron|SYCE1_ENST00000343131.5_Missense_Mutation_p.R232H|SYCE1_ENST00000432597.2_Missense_Mutation_p.R196H	p.R196H	NM_130784.2	NP_570140.1	Q8N0S2	SYCE1_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)	10	725	-		all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)	232					B2RC80|Q9BWU3|Q9BWU4	Missense_Mutation	SNP	ENST00000343131.5	37	c.587G>A	CCDS44501.1	.	.	.	.	.	.	.	.	.	.	C	13.03	2.114959	0.37339	2.27E-4	1.16E-4	ENSG00000171772	ENST00000303903;ENST00000432597;ENST00000368517;ENST00000343131	T;T;T;T	0.35973	1.28;2.91;2.91;2.91	4.38	3.48	0.39840	.	0.000000	0.64402	D	0.000004	T	0.51686	0.1689	L	0.61218	1.895	0.30487	N	0.77174	B;D;D	0.89917	0.357;1.0;1.0	B;D;D	0.85130	0.072;0.997;0.997	T	0.51772	-0.8663	10	0.45353	T	0.12	-11.2554	8.388	0.32512	0.0:0.8952:0.0:0.1048	.	104;232;196	Q8N0S2-3;Q8N0S2;Q8N0S2-2	.;SYCE1_HUMAN;.	H	232;196;196;232	ENSP00000303978:R232H;ENSP00000411779:R196H;ENSP00000357503:R196H;ENSP00000341282:R232H	ENSP00000303978:R232H	R	-	2	0	SYCE1	135219298	1.000000	0.71417	0.992000	0.48379	0.193000	0.23685	1.371000	0.34250	1.451000	0.47736	-0.136000	0.14681	CGC		0.642	SYCE1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_201564		6	105	0	0	0	1	0	6	105					T	135369308	C	T	135369308	3	4	21	1	0	0	0	0	1	0	0	0	15425	768	27	1	419	1	SYCE1	10	135369308	Missense_Mutation	SNP	C	TCGA-CH-5748-01A-11D-1576-08	45026393	135369308	165439	28	851											
NUP98	4928	broad.mit.edu	37	chr11	3721914	3721914	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gaatgacagcaactcccagaTtggggacaatgagaggacac	15	5	12	9	0	0	3	0	2	0	2	1	7	1	5	1	3	2	1	1	3	3	1			TCGA-CH-5748-01A-11D-1576-08	TCGA-CH-5748-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b436546f-99a3-4f71-b1aa-8653fe9471ec	feca02f5-4ac6-4bff-8de2-4256809ab640	g.chr11:3721914T>C	ENST00000324932.7	-	24	4088	c.3668A>G	c.(3667-3669)aAt>aGt	p.N1223S	NUP98_ENST00000359171.4_Missense_Mutation_p.N1223S|NUP98_ENST00000355260.3_Missense_Mutation_p.N1223S	NM_016320.4|NM_139132.3	NP_057404.2|NP_624358.2	P52948	NUP98_HUMAN	nucleoporin 98kDa	1240					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|DNA replication (GO:0006260)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|nuclear pore organization (GO:0006999)|nucleocytoplasmic transport (GO:0006913)|protein import into nucleus, docking (GO:0000059)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|nuclear envelope (GO:0005635)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)|nuclear pore outer ring (GO:0031080)|nucleoplasm (GO:0005654)	peptide binding (GO:0042277)|structural constituent of nuclear pore (GO:0017056)|transporter activity (GO:0005215)	p.N1223S(1)		NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199)		AACTCCCAGATTGGGGACAAT	0.418			T	"HOXA9, NSD1, WHSC1L1, DDX10, TOP1, HOXD13, PMX1, HOXA13, HOXD11, HOXA11, RAP1GDS1, HOXC11"	AML																																	ENST00000324932.7				Dom	yes		11	11p15	4928	T	nucleoporin 98kDa			L	"HOXA9, NSD1, WHSC1L1, DDX10, TOP1, HOXD13, PMX1, HOXA13, HOXD11, HOXA11, RAP1GDS1, HOXC11"		AML		1	Substitution - Missense(1)	p.N1223S(1)	prostate(1)	NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66						c.(3667-3669)aAt>aGt		nucleoporin 98kDa							174	156	162					11																	3721914		2201	4298	6499	SO:0001583	missense	4928				carbohydrate metabolic process|DNA replication|glucose transport|interspecies interaction between organisms|mitotic prometaphase|mRNA transport|nuclear pore organization|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear membrane|nucleoplasm|Nup107-160 complex	protein binding|structural constituent of nuclear pore|transporter activity	g.chr11:3721914T>C	AF071076, AF231130, BC012906, BG773331	CCDS7746.1, CCDS31347.1, CCDS41605.1, CCDS41606.1	11p15	2008-02-26	2002-08-29		ENSG00000110713	ENSG00000110713			8068	protein-coding gene	gene with protein product		601021	"nucleoporin 98kD"			9166830	Standard	NM_139131		Approved	NUP96	uc001lyh.3	P52948	OTTHUMG00000011846	ENST00000324932.7:c.3668A>G	11.37:g.3721914T>C	ENSP00000316032:p.Asn1223Ser					NUP98_ENST00000355260.3_Missense_Mutation_p.N1223S|NUP98_ENST00000359171.4_Missense_Mutation_p.N1223S	p.N1223S	NM_016320.4|NM_139132.3	NP_057404.2|NP_624358.2	P52948	NUP98_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199)	24	4088	-		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)	1240					Q8IUT2|Q8WYB0|Q96E54|Q9H3Q4|Q9NT02|Q9UF57|Q9UHX0|Q9Y6J4|Q9Y6J5	Missense_Mutation	SNP	ENST00000324932.7	37	c.3668A>G	CCDS7746.1	.	.	.	.	.	.	.	.	.	.	T	12.19	1.862145	0.32884	.	.	ENSG00000110713	ENST00000324932;ENST00000359171;ENST00000355260	.	.	.	5.4	5.4	0.78164	.	0.287519	0.39615	N	0.001315	T	0.58192	0.2105	L	0.54323	1.7	0.28559	N	0.911208	P;P;D	0.67145	0.914;0.519;0.996	B;B;D	0.77557	0.341;0.269;0.99	T	0.54159	-0.8335	9	0.02654	T	1	-17.937	14.6112	0.68517	0.0:0.0:0.0:1.0	.	1223;1223;1137	P52948-2;P52948-5;P52948-6	.;.;.	S	1223	.	ENSP00000316032:N1223S	N	-	2	0	NUP98	3678490	1.000000	0.71417	0.997000	0.53966	0.853000	0.48598	2.737000	0.47393	2.060000	0.61445	0.528000	0.53228	AAT		0.418	NUP98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032766.3	NM_016320		5	94	0	0	0	1	0	5	94					C	3721914	T	C	3721914	3	2	21	1	0	0	0	0	1	0	0	0	10773	1493	52	4	1774	4	NUP98	11	3721914	Missense_Mutation	SNP	T	TCGA-CH-5748-01A-11D-1576-08		3721914	131284602	29	852											
NAV2	89797	broad.mit.edu	37	chr11	19955124	19955124	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gagcgaggagctggaggccgCcagtcgcatgctcaccaccg	8	4	15	14	4	1	0	1	0	0	0	2	4	1	2	4	3	3	3	4	3	0	0			TCGA-CH-5748-01A-11D-1576-08	TCGA-CH-5748-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b436546f-99a3-4f71-b1aa-8653fe9471ec	feca02f5-4ac6-4bff-8de2-4256809ab640	g.chr11:19955124C>G	ENST00000396087.3	+	8	1502	c.1403C>G	c.(1402-1404)gCc>gGc	p.A468G	NAV2_ENST00000540292.1_Missense_Mutation_p.A399G|NAV2_ENST00000349880.4_Missense_Mutation_p.A445G|NAV2_ENST00000360655.4_Missense_Mutation_p.A381G|NAV2_ENST00000396085.1_Missense_Mutation_p.A445G|NAV2_ENST00000527559.2_Missense_Mutation_p.A397G	NM_001244963.1	NP_001231892.1	Q8IVL1	NAV2_HUMAN	neuron navigator 2	468					glossopharyngeal nerve development (GO:0021563)|locomotory behavior (GO:0007626)|optic nerve development (GO:0021554)|regulation of systemic arterial blood pressure by baroreceptor feedback (GO:0003025)|sensory perception of smell (GO:0007608)|sensory perception of sound (GO:0007605)|vagus nerve development (GO:0021564)	interstitial matrix (GO:0005614)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|heparin binding (GO:0008201)	p.A468G(1)		NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						CTGGAGGCCGCCAGTCGCATG	0.647																																						ENST00000396085.1																			1	Substitution - Missense(1)	p.A468G(1)	prostate(1)	NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						c.(1333-1335)gCc>gGc		neuron navigator 2							38	45	43					11																	19955124		2199	4292	6491	SO:0001583	missense	89797					nucleus	ATP binding|helicase activity	g.chr11:19955124C>G	AB037840	CCDS7850.1, CCDS7851.2, CCDS44552.1, CCDS53612.1, CCDS58126.1	11p15.1	2008-07-18			ENSG00000166833	ENSG00000166833	3.6.1.1		15997	protein-coding gene	gene with protein product	"pore membrane and/or filament interacting like protein 2", "retinoic acid inducible gene in neuroblastoma 1", "helicase, APC down-regulated 1"	607026				12079279, 12062803	Standard	NM_145117		Approved	FLJ10633, FLJ11030, HELAD1, KIAA1419, POMFIL2, RAINB1, FLJ23707	uc010rdm.2	Q8IVL1	OTTHUMG00000151837	ENST00000396087.3:c.1403C>G	11.37:g.19955124C>G	ENSP00000379396:p.Ala468Gly					NAV2_ENST00000349880.4_Missense_Mutation_p.A445G|NAV2_ENST00000540292.1_Missense_Mutation_p.A399G|NAV2_ENST00000396087.3_Missense_Mutation_p.A468G|NAV2_ENST00000360655.4_Missense_Mutation_p.A381G|NAV2_ENST00000527559.2_Missense_Mutation_p.A397G	p.A445G	NM_182964.5	NP_892009.3	Q8IVL1	NAV2_HUMAN			7	1695	+			468					A6NEC1|Q8IVK3|Q8IVK4|Q8IVK5|Q8IVK6|Q8IVK7|Q8IVK8|Q8NHC9|Q8NHD0|Q8TDE9|Q8TDF0|Q8TEB3|Q96B30|Q9NUZ6|Q9NVM7|Q9P2C8	Missense_Mutation	SNP	ENST00000396087.3	37	c.1334C>G	CCDS58126.1	.	.	.	.	.	.	.	.	.	.	C	5.736	0.320276	0.10845	.	.	ENSG00000166833	ENST00000360655;ENST00000396085;ENST00000349880;ENST00000396087;ENST00000527559;ENST00000540292	T;T;T;T;T;T	0.29142	1.59;1.69;1.7;1.69;1.59;1.58	5.42	3.53	0.40419	.	0.754197	0.12384	N	0.473613	T	0.26122	0.0637	L	0.43152	1.355	0.35967	D	0.835066	B;B	0.14805	0.001;0.011	B;B	0.20767	0.012;0.031	T	0.12451	-1.0547	9	.	.	.	.	9.6264	0.39752	0.0:0.776:0.1479:0.0761	.	445;381	Q8IVL1-3;Q8IVL1-4	.;.	G	381;445;445;468;397;399	ENSP00000353871:A381G;ENSP00000379394:A445G;ENSP00000309577:A445G;ENSP00000379396:A468G;ENSP00000435395:A397G;ENSP00000443489:A399G	.	A	+	2	0	NAV2	19911700	0.000000	0.05858	0.002000	0.10522	0.346000	0.29079	0.460000	0.21924	0.652000	0.30806	0.455000	0.32223	GCC		0.647	NAV2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324112.1	NM_145117		4	60	0	0	0	1	0	4	60					G	19955124	C	G	19955124	3	3	21	1	0	0	0	0	1	0	0	0	10184	739	26	5	1439	5	NAV2	11	19955124	Missense_Mutation	SNP	C	TCGA-CH-5748-01A-11D-1576-08	16233210	19955124	115051392	30	853											
OR4D9	390199	broad.mit.edu	37	chr11	59282922	59282922	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gttcttgacactttctactgCgatgtcccccaggtcctcaa	7	13	7	14	1	3	1	1	1	2	0	5	2	5	1	3	1	2	1	3	1	2	4	rs145873782		TCGA-CH-5748-01A-11D-1576-08	TCGA-CH-5748-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b436546f-99a3-4f71-b1aa-8653fe9471ec	feca02f5-4ac6-4bff-8de2-4256809ab640	g.chr11:59282922C>T	ENST00000329328.3	+	1	537	c.537C>T	c.(535-537)tgC>tgT	p.C179C		NM_001004711.1	NP_001004711.1	Q8NGE8	OR4D9_HUMAN	olfactory receptor, family 4, subfamily D, member 9	179						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.C179C(1)		endometrium(1)|kidney(2)|large_intestine(3)|lung(14)|prostate(5)|upper_aerodigestive_tract(1)	26						CTTTCTACTGCGATGTCCCCC	0.493																																						ENST00000329328.3																			1	Substitution - coding silent(1)	p.C179C(1)	prostate(1)	endometrium(1)|kidney(2)|large_intestine(3)|lung(14)|prostate(5)|upper_aerodigestive_tract(1)	26						c.(535-537)tgC>tgT		olfactory receptor, family 4, subfamily D, member 9		C		1,4401	2.1+/-5.4	0,1,2200	162	147	152		537	-5.2	0.9	11	dbSNP_134	152	0,8590		0,0,4295	no	coding-synonymous	OR4D9	NM_001004711.1		0,1,6495	TT,TC,CC		0.0,0.0227,0.0077		179/315	59282922	1,12991	2201	4295	6496	SO:0001819	synonymous_variant	390199				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:59282922C>T	AB065861	CCDS31564.1	11q12.1	2012-08-09	2003-12-15		ENSG00000172742	ENSG00000172742		"GPCR / Class A : Olfactory receptors"	15178	protein-coding gene	gene with protein product			"olfactory receptor, family 4, subfamily D, member 9 pseudogene"				Standard	NM_001004711		Approved		uc010rkv.2	Q8NGE8	OTTHUMG00000167343	ENST00000329328.3:c.537C>T	11.37:g.59282922C>T							p.C179C	NM_001004711.1	NP_001004711.1	Q8NGE8	OR4D9_HUMAN			1	537	+			179					Q6IFF3	Silent	SNP	ENST00000329328.3	37	c.537C>T	CCDS31564.1																																																																																				0.493	OR4D9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394237.1	NM_001004711		10	200	0	0	0	1	0	10	200					T	59282922	C	T	59282922	2	4	21	1	0	0	0	0	0	0	0	1	11059	776	27	1		1	OR4D9	11	59282922	Silent	SNP	C	TCGA-CH-5748-01A-11D-1576-08	39327798	59282922	75723594	31	854											
NPAT	4863	broad.mit.edu	37	chr11	108032027	108032027	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cggggcacaggtaaatcactActatcagcaagcctacttac	13	8	8	12	1	2	0	2	0	0	0	2	0	2	0	1	3	5	3	1	3	7	5			TCGA-CH-5748-01A-11D-1576-08	TCGA-CH-5748-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b436546f-99a3-4f71-b1aa-8653fe9471ec	feca02f5-4ac6-4bff-8de2-4256809ab640	g.chr11:108032027A>G	ENST00000278612.8	-	17	3891	c.3786T>C	c.(3784-3786)agT>agC	p.S1262S		NM_002519.2	NP_002510.2	Q14207	NPAT_HUMAN	nuclear protein, ataxia-telangiectasia locus	1262					positive regulation of transcription, DNA-templated (GO:0045893)|regulation of gene expression (GO:0010468)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|transcription, DNA-templated (GO:0006351)	Cajal body (GO:0015030)|cytoplasm (GO:0005737)|Gemini of coiled bodies (GO:0097504)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)	p.S1262S(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(21)|ovary(2)|prostate(2)|skin(5)	46		all_cancers(61;2.31e-10)|all_epithelial(67;1.11e-06)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		BRCA - Breast invasive adenocarcinoma(274;1.05e-05)|Epithelial(105;3.01e-05)|all cancers(92;0.000816)|Colorectal(284;0.116)		GTAAATCACTACTATCAGCAA	0.438																																						ENST00000278612.8																			1	Substitution - coding silent(1)	p.S1262S(1)	prostate(1)	breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(21)|ovary(2)|prostate(2)|skin(5)	46						c.(3784-3786)agT>agC		nuclear protein, ataxia-telangiectasia locus							109	108	109					11																	108032027		1853	4091	5944	SO:0001819	synonymous_variant	4863				positive regulation of transcription, DNA-dependent|regulation of transcription involved in G1/S phase of mitotic cell cycle	Cajal body	protein C-terminus binding|protein N-terminus binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity	g.chr11:108032027A>G	X97186	CCDS41710.1	11q22-q23	2008-02-01			ENSG00000149308	ENSG00000149308			7896	protein-coding gene	gene with protein product		601448				9205109	Standard	NM_002519		Approved	E14	uc001pjz.4	Q14207	OTTHUMG00000166385	ENST00000278612.8:c.3786T>C	11.37:g.108032027A>G							p.S1262S	NM_002519.2	NP_002510.2	Q14207	NPAT_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.05e-05)|Epithelial(105;3.01e-05)|all cancers(92;0.000816)|Colorectal(284;0.116)	17	3891	-		all_cancers(61;2.31e-10)|all_epithelial(67;1.11e-06)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)	1262					A8K1V5|A8K6M2|Q13632|Q14967|Q16580|Q86W55|Q8IWE9	Silent	SNP	ENST00000278612.8	37	c.3786T>C	CCDS41710.1	.	.	.	.	.	.	.	.	.	.	A	0.009	-1.822054	0.00589	.	.	ENSG00000149308	ENST00000527296	.	.	.	4.61	-0.429	0.12303	.	.	.	.	.	T	0.30854	0.0778	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.29366	-1.0014	4	.	.	.	-4.7396	6.8692	0.24111	0.4198:0.1397:0.4405:0.0	.	.	.	.	A	261	.	.	V	-	2	0	NPAT	107537237	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.379000	0.20585	-0.156000	0.11079	-0.385000	0.06624	GTA		0.438	NPAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389506.2	NM_002519		6	234	0	0	0	1	0	6	234					G	108032027	A	G	108032027	2	3	21	1	0	0	0	0	0	0	0	1	10566	388	14	4		4	NPAT	11	108032027	Silent	SNP	A	TCGA-CH-5748-01A-11D-1576-08	48749105	108032027	26974489	32	855											
C1S	716	broad.mit.edu	37	chr12	7177943	7177943	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	atgcaggaaaatagcaccccCcgtgaggactaatccagata	15	6	9	11	1	0	2	0	1	0	1	1	4	1	4	4	2	2	2	4	2	5	3			TCGA-CH-5748-01A-11D-1576-08	TCGA-CH-5748-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b436546f-99a3-4f71-b1aa-8653fe9471ec	feca02f5-4ac6-4bff-8de2-4256809ab640	g.chr12:7177943C>T	ENST00000406697.1	+	15	2683	c.2055C>T	c.(2053-2055)ccC>ccT	p.P685P	C1S_ENST00000402681.3_Silent_p.P518P|C1S_ENST00000360817.5_Silent_p.P685P|C1S_ENST00000328916.3_Silent_p.P685P			P09871	C1S_HUMAN	complement component 1, s subcomponent	685					complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|serine-type endopeptidase activity (GO:0004252)	p.P685P(1)		breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(4)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33					Abciximab(DB00054)|Adalimumab(DB00051)|Basiliximab(DB00074)|Cetuximab(DB00002)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Muromonab(DB00075)|Rituximab(DB00073)|Trastuzumab(DB00072)	ATAGCACCCCCCGTGAGGACT	0.483																																					GBM(156;750 1943 12971 24779 31015)	ENST00000406697.1																			1	Substitution - coding silent(1)	p.P685P(1)	prostate(1)	breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(4)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33						c.(2053-2055)ccC>ccT		complement component 1, s subcomponent	Abciximab(DB00054)|Adalimumab(DB00051)|Basiliximab(DB00074)|Cetuximab(DB00002)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Rituximab(DB00073)|Trastuzumab(DB00072)						59	65	63					12																	7177943		2203	4300	6503	SO:0001819	synonymous_variant	716				complement activation, classical pathway|innate immune response|proteolysis	extracellular region	calcium ion binding|serine-type endopeptidase activity	g.chr12:7177943C>T		CCDS31735.1	12p13	2014-09-17			ENSG00000182326	ENSG00000182326	3.4.21.42	"Complement system"	1247	protein-coding gene	gene with protein product		120580					Standard	NM_201442		Approved		uc001qsl.3	P09871	OTTHUMG00000150305	ENST00000406697.1:c.2055C>T	12.37:g.7177943C>T						C1S_ENST00000360817.5_Silent_p.P685P|C1S_ENST00000402681.3_Silent_p.P518P|C1S_ENST00000328916.3_Silent_p.P685P	p.P685P			P09871	C1S_HUMAN			15	2683	+			685					D3DUT4|Q9UCU7|Q9UCU8|Q9UCU9|Q9UCV0|Q9UCV1|Q9UCV2|Q9UCV3|Q9UCV4|Q9UCV5|Q9UM14	Silent	SNP	ENST00000406697.1	37	c.2055C>T	CCDS31735.1																																																																																				0.483	C1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317481.1	NM_001734		15	127	0	0	0	1	0	15	127					T	7177943	C	T	7177943	2	4	21	1	0	0	0	0	0	0	0	1	1974	610	22	3		3	C1S	12	7177943	Silent	SNP	C	TCGA-CH-5748-01A-11D-1576-08		7177943	126673952	33	856											
FREM2	341640	broad.mit.edu	37	chr13	39262558	39262558	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gacctgttgatcttcaacctTacttctccattccagcctgg	7	14	6	14	0	3	1	1	1	2	0	5	2	4	1	5	1	3	1	5	1	2	5			TCGA-CH-5748-01A-11D-1576-08	TCGA-CH-5748-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b436546f-99a3-4f71-b1aa-8653fe9471ec	feca02f5-4ac6-4bff-8de2-4256809ab640	g.chr13:39262558T>C	ENST00000280481.7	+	1	1293	c.1077T>C	c.(1075-1077)ctT>ctC	p.L359L		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	359					cell communication (GO:0007154)|homophilic cell adhesion (GO:0007156)|inner ear development (GO:0048839)|morphogenesis of an epithelium (GO:0002009)	basement membrane (GO:0005604)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.L359L(1)		NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		TCTTCAACCTTACTTCTCCAT	0.572																																						ENST00000280481.7																			1	Substitution - coding silent(1)	p.L359L(1)	prostate(1)	NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148						c.(1075-1077)ctT>ctC		FRAS1 related extracellular matrix protein 2							126	114	118					13																	39262558		2203	4300	6503	SO:0001819	synonymous_variant	341640				cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr13:39262558T>C	BX538150	CCDS31960.1	13q13.3	2004-12-15			ENSG00000150893	ENSG00000150893			25396	protein-coding gene	gene with protein product		608945				15345741	Standard	NM_207361		Approved	DKFZp686J0811	uc001uwv.3	Q5SZK8	OTTHUMG00000016759	ENST00000280481.7:c.1077T>C	13.37:g.39262558T>C							p.L359L	NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)	1	1293	+		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)	359					Q4QQG1|Q5H9N8|Q5T6Q1|Q6N057|Q6ZSB4|Q7Z305|Q7Z341	Silent	SNP	ENST00000280481.7	37	c.1077T>C	CCDS31960.1																																																																																				0.572	FREM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044599.2	NM_207361		5	79	0	0	0	1	0	5	79					C	39262558	T	C	39262558	2	2	21	1	0	0	0	0	0	0	0	1	6045	1741	61	4		4	FREM2	13	39262558	Silent	SNP	T	TCGA-CH-5748-01A-11D-1576-08		39262558	75907320	34	857											
GPR183	1880	broad.mit.edu	37	chr13	99948335	99948335	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctgtgatgtgcatagaggTcacagtcatttccctgagga	9	12	12	8	0	2	3	2	2	0	1	3	4	3	4	1	2	2	2	1	2	1	2			TCGA-CH-5748-01A-11D-1576-08	TCGA-CH-5748-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b436546f-99a3-4f71-b1aa-8653fe9471ec	feca02f5-4ac6-4bff-8de2-4256809ab640	g.chr13:99948335T>G	ENST00000376414.4	-	2	148	c.65A>C	c.(64-66)gAc>gCc	p.D22A	UBAC2_ENST00000376440.2_Intron|UBAC2_ENST00000403766.3_Intron	NM_004951.4	NP_004942.1	P32249	GP183_HUMAN	G protein-coupled receptor 183	22					G-protein coupled receptor signaling pathway (GO:0007186)|humoral immune response (GO:0006959)|immune response (GO:0006955)|mature B cell differentiation involved in immune response (GO:0002313)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|oxysterol binding (GO:0008142)	p.D22A(1)		cervix(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(10)|prostate(1)|skin(1)	23						TGCATAGAGGTCACAGTCATT	0.478																																						ENST00000376414.4																			1	Substitution - Missense(1)	p.D22A(1)	prostate(1)	cervix(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(10)|prostate(1)|skin(1)	23						c.(64-66)gAc>gCc		G protein-coupled receptor 183							75	68	70					13																	99948335		2203	4290	6493	SO:0001583	missense	1880				humoral immune response|mature B cell differentiation involved in immune response	integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	g.chr13:99948335T>G	L08177	CCDS9492.1	13q32.3	2012-08-21	2008-07-21	2008-07-21	ENSG00000169508	ENSG00000169508		"GPCR / Class A : Orphans"	3128	protein-coding gene	gene with protein product	"EBV-induced G-protein coupled receptor 2"	605741	"Epstein-Barr virus induced gene 2 (lymphocyte-specific G protein-coupled receptor)"	EBI2		8383238	Standard	NM_004951		Approved		uc001vog.3	P32249	OTTHUMG00000017263	ENST00000376414.4:c.65A>C	13.37:g.99948335T>G	ENSP00000365596:p.Asp22Ala					UBAC2_ENST00000403766.3_Intron|UBAC2_ENST00000376440.2_Intron	p.D22A	NM_004951.4	NP_004942.1	P32249	GP183_HUMAN			2	148	-			22					B2R8N5|Q53F99|Q5JUH7	Missense_Mutation	SNP	ENST00000376414.4	37	c.65A>C	CCDS9492.1	.	.	.	.	.	.	.	.	.	.	T	11.51	1.659589	0.29515	.	.	ENSG00000169508	ENST00000376414	T	0.36878	1.23	5.69	5.69	0.88448	.	0.243736	0.40908	D	0.000998	T	0.23688	0.0573	N	0.19112	0.55	0.41849	D	0.990165	P	0.45078	0.85	B	0.36666	0.23	T	0.04481	-1.0948	9	.	.	.	.	15.9448	0.79784	0.0:0.0:0.0:1.0	.	22	P32249	GP183_HUMAN	A	22	ENSP00000365596:D22A	.	D	-	2	0	GPR183	98746336	1.000000	0.71417	0.978000	0.43139	0.623000	0.37688	6.696000	0.74598	2.158000	0.67659	0.533000	0.62120	GAC		0.478	GPR183-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045582.2	NM_004951		7	96	0	0	0	1	0	7	96					G	99948335	T	G	99948335	3	3	21	1	0	0	0	0	1	0	0	0	6678	1667	58	5	1024	5	GPR183	13	99948335	Missense_Mutation	SNP	T	TCGA-CH-5748-01A-11D-1576-08	60685777	99948335	15221543	35	858											
PROZ	8858	broad.mit.edu	37	chr13	113825982	113825982	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tgcacatgcggtatgacgcgGacgcgggggagaatgacctg	9	6	17	9	5	0	3	0	2	0	1	0	5	0	4	1	4	2	2	1	4	2	1			TCGA-CH-5748-01A-11D-1576-08	TCGA-CH-5748-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b436546f-99a3-4f71-b1aa-8653fe9471ec	feca02f5-4ac6-4bff-8de2-4256809ab640	g.chr13:113825982G>A	ENST00000375547.2	+	8	773	c.766G>A	c.(766-768)Gac>Aac	p.D256N	PROZ_ENST00000342783.4_Missense_Mutation_p.D278N	NM_003891.2	NP_003882.1	P22891	PROZ_HUMAN	protein Z, vitamin K-dependent plasma glycoprotein	256	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|peptidyl-glutamic acid carboxylation (GO:0017187)|post-translational protein modification (GO:0043687)|proteolysis (GO:0006508)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)	calcium ion binding (GO:0005509)|serine-type endopeptidase activity (GO:0004252)	p.D256N(1)		NS(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(4)|prostate(2)|skin(2)	16	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_lung(25;0.216)	all cancers(43;0.104)		Menadione(DB00170)	GTATGACGCGGACGCGGGGGA	0.562																																						ENST00000342783.4																			1	Substitution - Missense(1)	p.D256N(1)	prostate(1)	NS(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(4)|prostate(2)|skin(2)	16						c.(832-834)Gac>Aac		protein Z, vitamin K-dependent plasma glycoprotein	Menadione(DB00170)						82	79	80					13																	113825982		2203	4300	6503	SO:0001583	missense	8858				blood coagulation|peptidyl-glutamic acid carboxylation|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|extracellular region|Golgi lumen	calcium ion binding|serine-type endopeptidase activity	g.chr13:113825982G>A	M55670	CCDS9531.1, CCDS58300.1	13q34	2008-07-18			ENSG00000126231	ENSG00000126231			9460	protein-coding gene	gene with protein product		176895				2244898, 2403355	Standard	NM_001256134		Approved	PZ	uc010agr.2	P22891	OTTHUMG00000017376	ENST00000375547.2:c.766G>A	13.37:g.113825982G>A	ENSP00000364697:p.Asp256Asn					PROZ_ENST00000375547.2_Missense_Mutation_p.D256N	p.D278N	NM_001256134.1	NP_001243063.1	P22891	PROZ_HUMAN	all cancers(43;0.104)		9	839	+	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_lung(25;0.216)	256			Peptidase S1.		A6NMB4|Q15213|Q5JVF5|Q5JVF6	Missense_Mutation	SNP	ENST00000375547.2	37	c.832G>A	CCDS9531.1	.	.	.	.	.	.	.	.	.	.	G	9.367	1.069577	0.20147	.	.	ENSG00000126231	ENST00000375547;ENST00000342783	D;D	0.88818	-2.43;-2.43	4.16	4.16	0.48862	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.242826	0.41712	D	0.000840	T	0.81226	0.4778	N	0.21194	0.64	0.26948	N	0.966093	B;B	0.15719	0.014;0.006	B;B	0.15052	0.01;0.012	T	0.74934	-0.3495	10	0.87932	D	0	.	11.1517	0.48462	0.0919:0.0:0.9081:0.0	.	278;256	P22891-2;P22891	.;PROZ_HUMAN	N	256;278	ENSP00000364697:D256N;ENSP00000344458:D278N	ENSP00000344458:D278N	D	+	1	0	PROZ	112873983	0.415000	0.25416	0.018000	0.16275	0.005000	0.04900	2.058000	0.41374	1.842000	0.53543	0.313000	0.20887	GAC		0.562	PROZ-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000045845.1	NM_003891		9	129	0	0	0	1	0	9	129					A	113825982	G	A	113825982	3	1	21	1	0	0	0	0	1	0	0	0	12562	1174	41	3	796	3	PROZ	13	113825982	Missense_Mutation	SNP	G	TCGA-CH-5748-01A-11D-1576-08	13877647	113825982	1343896	36	859											
DHRS7	51635	broad.mit.edu	37	chr14	60619800	60619800	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgtcaaggacaccgtccctaAgtagttaagctctattagct	11	12	8	10	1	2	0	1	0	1	0	3	1	3	1	2	1	2	4	2	1	6	5	rs111656127		TCGA-CH-5748-01A-11D-1576-08	TCGA-CH-5748-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b436546f-99a3-4f71-b1aa-8653fe9471ec	feca02f5-4ac6-4bff-8de2-4256809ab640	g.chr14:60619800A>C	ENST00000216500.5	-	5	945	c.490T>G	c.(490-492)Tta>Gta	p.L164V	DHRS7_ENST00000553986.1_5'UTR|DHRS7_ENST00000557185.1_Missense_Mutation_p.L164V|PCNXL4_ENST00000406949.1_Intron|DHRS7_ENST00000536410.2_Missense_Mutation_p.L114V|PCNXL4_ENST00000553898.1_Intron			Q9Y394	DHRS7_HUMAN	dehydrogenase/reductase (SDR family) member 7	164						membrane (GO:0016020)	oxidoreductase activity (GO:0016491)	p.L164V(1)		endometrium(1)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	5				OV - Ovarian serous cystadenocarcinoma(108;0.121)		ACCGTCCCTAAGTAGTTAAGC	0.443																																						ENST00000216500.5																			1	Substitution - Missense(1)	p.L164V(1)	prostate(1)	endometrium(1)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	5						c.(490-492)Tta>Gta		dehydrogenase/reductase (SDR family) member 7							182	153	163					14																	60619800		2203	4300	6503	SO:0001583	missense	51635						binding|oxidoreductase activity	g.chr14:60619800A>C	AF151844	CCDS9743.1	14q23.1	2011-09-20			ENSG00000100612	ENSG00000100612		"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3"	21524	protein-coding gene	gene with protein product	"retinal short-chain dehydrogenase/reductase 4", "short chain dehydrogenase/reductase family 34C, member 1"	612833				10800688, 10810093, 19027726	Standard	NM_016029		Approved	retDSR4, SDR34C1	uc001xes.3	Q9Y394	OTTHUMG00000140331	ENST00000216500.5:c.490T>G	14.37:g.60619800A>C	ENSP00000216500:p.Leu164Val					DHRS7_ENST00000557185.1_Missense_Mutation_p.L164V|PCNXL4_ENST00000406949.1_Intron|PCNXL4_ENST00000553898.1_Intron|DHRS7_ENST00000536410.2_Missense_Mutation_p.L114V|DHRS7_ENST00000553986.1_5'UTR	p.L164V			Q9Y394	DHRS7_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.121)	5	945	-			164					B2R896|Q9UKU2	Missense_Mutation	SNP	ENST00000216500.5	37	c.490T>G	CCDS9743.1	.	.	.	.	.	.	.	.	.	.	A	16.63	3.175887	0.57692	.	.	ENSG00000100612	ENST00000216500;ENST00000360557;ENST00000557185;ENST00000536410	T;T;T	0.54071	0.59;0.59;0.59	5.2	1.66	0.24008	NAD(P)-binding domain (1);	0.065573	0.64402	D	0.000010	T	0.37019	0.0988	L	0.33710	1.025	0.47584	D	0.999469	P;P	0.47604	0.898;0.793	B;B	0.43658	0.426;0.422	T	0.11891	-1.0569	10	0.49607	T	0.09	.	3.1339	0.06433	0.4421:0.0:0.371:0.1869	.	164;164	F8W9Q4;Q9Y394	.;DHRS7_HUMAN	V	164;164;164;114	ENSP00000216500:L164V;ENSP00000451882:L164V;ENSP00000442993:L114V	ENSP00000216500:L164V	L	-	1	2	DHRS7	59689553	1.000000	0.71417	0.997000	0.53966	0.965000	0.64279	1.020000	0.30027	0.074000	0.16767	0.460000	0.39030	TTA		0.443	DHRS7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276947.2	NM_016029		16	174	0	0	0	1	0	16	174					C	60619800	A	C	60619800	3	2	21	1	0	0	0	0	1	0	0	0	4495	69	3	5	545	5	DHRS7	14	60619800	Missense_Mutation	SNP	A	TCGA-CH-5748-01A-11D-1576-08		60619800	46729740	37	860											
ETFA	2108	broad.mit.edu	37	chr15	76584842	76584842	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tctgagttgccaaaatcaatGgtgtcagttcctctgagaat	11	13	9	8	0	4	2	2	2	2	1	5	3	5	2	2	1	1	2	2	1	4	2			TCGA-CH-5748-01A-11D-1576-08	TCGA-CH-5748-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b436546f-99a3-4f71-b1aa-8653fe9471ec	feca02f5-4ac6-4bff-8de2-4256809ab640	g.chr15:76584842G>A	ENST00000557943.1	-	4	361	c.281C>T	c.(280-282)cCa>cTa	p.P94L	ETFA_ENST00000433983.2_Missense_Mutation_p.P45L|ETFA_ENST00000560726.1_5'UTR|ETFA_ENST00000559602.1_Intron	NM_000126.3	NP_000117.1	P13804	ETFA_HUMAN	electron-transfer-flavoprotein, alpha polypeptide	94	Domain I. {ECO:0000269|PubMed:8962055}.				cellular metabolic process (GO:0044237)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|oxidoreductase activity (GO:0016491)	p.P94L(1)		endometrium(1)|large_intestine(3)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	9						CAAAATCAATGGTGTCAGTTC	0.338																																						ENST00000557943.1																			1	Substitution - Missense(1)	p.P94L(1)	prostate(1)	endometrium(1)|large_intestine(3)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	9						c.(280-282)cCa>cTa		electron-transfer-flavoprotein, alpha polypeptide							94	89	91					15																	76584842		2197	4294	6491	SO:0001583	missense	2108				respiratory electron transport chain|transport	mitochondrial matrix	electron carrier activity|flavin adenine dinucleotide binding|oxidoreductase activity	g.chr15:76584842G>A	J04058	CCDS32299.1, CCDS45311.1	15q23-q25	2012-04-04	2008-08-01		ENSG00000140374	ENSG00000140374			3481	protein-coding gene	gene with protein product	"glutaric aciduria II"	608053					Standard	NM_000126		Approved	GA2, EMA, MADD	uc002bbt.2	P13804	OTTHUMG00000172586	ENST00000557943.1:c.281C>T	15.37:g.76584842G>A	ENSP00000452762:p.Pro94Leu					ETFA_ENST00000559602.1_Intron|ETFA_ENST00000560726.1_5'UTR|ETFA_ENST00000433983.2_Missense_Mutation_p.P45L	p.P94L	NM_000126.3	NP_000117.1	P13804	ETFA_HUMAN			4	361	-			94					B4DT43|Q53XN3	Missense_Mutation	SNP	ENST00000557943.1	37	c.281C>T	CCDS32299.1	.	.	.	.	.	.	.	.	.	.	G	26.3	4.720904	0.89205	.	.	ENSG00000140374	ENST00000433983;ENST00000267950	D	0.87809	-2.3	5.6	5.6	0.85130	Electron transfer flavoprotein, alpha/beta-subunit, N-terminal (2);Rossmann-like alpha/beta/alpha sandwich fold (1);	0.000000	0.85682	D	0.000000	D	0.93510	0.7929	M	0.83483	2.645	0.80722	D	1	D;D;D	0.64830	0.97;0.994;0.994	P;D;D	0.64042	0.701;0.921;0.921	D	0.93461	0.6810	10	0.52906	T	0.07	-20.5838	18.6133	0.91294	0.0:0.0:1.0:0.0	.	45;94;94	B4DT43;Q53XN3;P13804	.;.;ETFA_HUMAN	L	45;94	ENSP00000399273:P45L	ENSP00000267950:P94L	P	-	2	0	ETFA	74371897	1.000000	0.71417	0.995000	0.50966	0.979000	0.70002	9.476000	0.97823	2.636000	0.89361	0.655000	0.94253	CCA		0.338	ETFA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419302.2	NM_000126		7	102	0	0	0	1	0	7	102					A	76584842	G	A	76584842	3	1	21	1	0	0	0	0	1	0	0	0	5269	1348	47	3	756	3	ETFA	15	76584842	Missense_Mutation	SNP	G	TCGA-CH-5748-01A-11D-1576-08		76584842	25946550	38	861											
ITFG3	83986	broad.mit.edu	37	chr16	309488	309488	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gttttctctttcagttatctAtgactttctggctgtggatg	5	20	9	7	0	4	1	1	1	3	0	5	2	4	2	0	2	0	3	0	2	2	6			TCGA-CH-5748-01A-11D-1576-08	TCGA-CH-5748-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b436546f-99a3-4f71-b1aa-8653fe9471ec	feca02f5-4ac6-4bff-8de2-4256809ab640	g.chr16:309488A>G	ENST00000399932.3	+	4	726	c.275A>G	c.(274-276)tAt>tGt	p.Y92C	ITFG3_ENST00000301679.2_Missense_Mutation_p.Y92C|ITFG3_ENST00000600536.1_Missense_Mutation_p.Y92C|ITFG3_ENST00000450082.2_Missense_Mutation_p.Y92C|ITFG3_ENST00000442458.2_Missense_Mutation_p.Y92C|ITFG3_ENST00000301678.3_Missense_Mutation_p.Y92C	NM_001284497.1	NP_001271426.1	Q9H0X4	ITFG3_HUMAN	integrin alpha FG-GAP repeat containing 3	92						cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)		p.Y92C(1)		central_nervous_system(3)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	16		all_cancers(16;0.000129)|all_epithelial(16;0.000206)|Hepatocellular(16;0.00264)|Lung NSC(18;0.0626)|all_lung(18;0.13)				TCAGTTATCTATGACTTTCTG	0.453																																						ENST00000399932.3																			1	Substitution - Missense(1)	p.Y92C(1)	prostate(1)	central_nervous_system(3)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	16						c.(274-276)tAt>tGt		integrin alpha FG-GAP repeat containing 3							266	267	267					16																	309488		1879	4096	5975	SO:0001583	missense	83986					integral to membrane		g.chr16:309488A>G	AL136542	CCDS10402.1	16p13.3	2006-03-31	2006-03-31	2006-03-31	ENSG00000167930	ENSG00000167930			14163	protein-coding gene	gene with protein product			"chromosome 16 open reading frame 9"	C16orf9			Standard	XM_005255622		Approved	DKFZP761D0211, FLJ32603	uc002cgf.3	Q9H0X4	OTTHUMG00000060728	ENST00000399932.3:c.275A>G	16.37:g.309488A>G	ENSP00000382814:p.Tyr92Cys					ITFG3_ENST00000600536.1_Missense_Mutation_p.Y92C|ITFG3_ENST00000442458.2_Missense_Mutation_p.Y92C|ITFG3_ENST00000450082.2_Missense_Mutation_p.Y92C|ITFG3_ENST00000301679.2_Missense_Mutation_p.Y92C|ITFG3_ENST00000301678.3_Missense_Mutation_p.Y92C	p.Y92C			Q9H0X4	ITFG3_HUMAN			4	726	+		all_cancers(16;0.000129)|all_epithelial(16;0.000206)|Hepatocellular(16;0.00264)|Lung NSC(18;0.0626)|all_lung(18;0.13)	92					D3DU45|Q7L416|Q96FR1|Q96MC7|Q96S30	Missense_Mutation	SNP	ENST00000399932.3	37	c.275A>G	CCDS10402.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	15.81|15.81	2.943197|2.943197	0.53079|0.53079	.|.	.|.	ENSG00000167930|ENSG00000167930	ENST00000421000|ENST00000399932;ENST00000301679;ENST00000419173;ENST00000438220;ENST00000453430;ENST00000442458;ENST00000449945;ENST00000420046;ENST00000301678;ENST00000450082	.|T;T;T;T;T;T;T;T	.|0.57273	.|0.41;0.41;0.41;0.41;0.41;0.41;0.41;0.41	5.35|5.35	5.35|5.35	0.76521|0.76521	.|Quinonprotein alcohol dehydrogenase-like (1);	.|0.065881	.|0.64402	.|D	.|0.000006	T|T	0.70535|0.70535	0.3235|0.3235	M|M	0.79805|0.79805	2.47|2.47	0.51233|0.51233	D|D	0.999915|0.999915	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.87578	.|0.998;0.998	T|T	0.72043|0.72043	-0.4409|-0.4409	5|10	.|0.42905	.|T	.|0.14	-3.6495|-3.6495	9.5603|9.5603	0.39364|0.39364	0.8433:0.0:0.0:0.1567|0.8433:0.0:0.0:0.1567	.|.	.|92;92	.|Q9H0X4-2;Q9H0X4	.|.;ITFG3_HUMAN	V|C	21|92	.|ENSP00000382814:Y92C;ENSP00000301679:Y92C;ENSP00000399150:Y92C;ENSP00000397477:Y92C;ENSP00000407669:Y92C;ENSP00000398433:Y92C;ENSP00000301678:Y92C;ENSP00000411394:Y92C	.|ENSP00000301678:Y92C	M|Y	+|+	1|2	0|0	ITFG3|ITFG3	249489|249489	0.992000|0.992000	0.36948|0.36948	0.988000|0.988000	0.46212|0.46212	0.737000|0.737000	0.42083|0.42083	2.992000|2.992000	0.49417|0.49417	2.041000|2.041000	0.60428|0.60428	0.533000|0.533000	0.62120|0.62120	ATG|TAT		0.453	ITFG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000134227.2	NM_032039		19	369	0	0	0	1	0	19	369					G	309488	A	G	309488	3	3	21	1	0	0	0	0	1	0	0	0	7871	449	16	4	281	4	ITFG3	16	309488	Missense_Mutation	SNP	A	TCGA-CH-5748-01A-11D-1576-08		309488	90045265	39	862											
PKD1	5310	broad.mit.edu	37	chr16	2140788	2140788	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaagacggaccactggcgcaCgaagcgtagctgctgggcag	11	4	15	11	4	0	1	0	0	0	1	0	3	0	2	1	3	3	5	1	3	3	1			TCGA-CH-5748-01A-11D-1576-08	TCGA-CH-5748-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b436546f-99a3-4f71-b1aa-8653fe9471ec	feca02f5-4ac6-4bff-8de2-4256809ab640	g.chr16:2140788C>T	ENST00000262304.4	-	44	12233	c.12025G>A	c.(12025-12027)Gtg>Atg	p.V4009M	RP11-304L19.1_ENST00000570072.1_RNA|PKD1_ENST00000423118.1_Missense_Mutation_p.V4008M|MIR1225_ENST00000408729.1_RNA	NM_001009944.2	NP_001009944	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	4009					anatomical structure morphogenesis (GO:0009653)|branching morphogenesis of an epithelial tube (GO:0048754)|calcium ion transmembrane transport (GO:0070588)|calcium-independent cell-matrix adhesion (GO:0007161)|cartilage condensation (GO:0001502)|cartilage development (GO:0051216)|cation transmembrane transport (GO:0098655)|cell cycle arrest (GO:0007050)|cell-matrix adhesion (GO:0007160)|cytoplasmic sequestering of transcription factor (GO:0042994)|detection of mechanical stimulus (GO:0050982)|digestive tract development (GO:0048565)|embryonic placenta development (GO:0001892)|genitalia development (GO:0048806)|heart development (GO:0007507)|homophilic cell adhesion (GO:0007156)|in utero embryonic development (GO:0001701)|JAK-STAT cascade (GO:0007259)|kidney development (GO:0001822)|liver development (GO:0001889)|lung epithelium development (GO:0060428)|mesonephric duct development (GO:0072177)|mesonephric tubule development (GO:0072164)|metanephric ascending thin limb development (GO:0072218)|metanephric collecting duct development (GO:0072205)|metanephric distal tubule morphogenesis (GO:0072287)|metanephric proximal tubule development (GO:0072237)|neural tube development (GO:0021915)|neuropeptide signaling pathway (GO:0007218)|nitrogen compound metabolic process (GO:0006807)|peptidyl-serine phosphorylation (GO:0018105)|placenta blood vessel development (GO:0060674)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of protein binding (GO:0032092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein export from nucleus (GO:0006611)|regulation of mitotic spindle organization (GO:0060236)|regulation of proteasomal protein catabolic process (GO:0061136)|response to fluid shear stress (GO:0034405)|skin development (GO:0043588)|spinal cord development (GO:0021510)	basolateral plasma membrane (GO:0016323)|cilium (GO:0005929)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|motile primary cilium (GO:0031512)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|polycystin complex (GO:0002133)	calcium channel activity (GO:0005262)|carbohydrate binding (GO:0030246)|cation channel activity (GO:0005261)|ion channel binding (GO:0044325)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)	p.V4009M(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						CACTGGCGCACGAAGCGTAGC	0.672																																						ENST00000262304.4																			1	Substitution - Missense(1)	p.V4009M(1)	prostate(1)	breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						c.(12025-12027)Gtg>Atg		polycystic kidney disease 1 (autosomal dominant)							48	50	49					16																	2140788		2197	4298	6495	SO:0001583	missense	5310				calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding	g.chr16:2140788C>T	L33243	CCDS32369.1, CCDS45385.1	16p13.3	2014-01-28			ENSG00000008710	ENSG00000008710		"Voltage-gated ion channels / Transient receptor potential cation channels"	9008	protein-coding gene	gene with protein product	"polycystin 1", "transient receptor potential cation channel, subfamily P, member 1"	601313					Standard	NM_001009944		Approved	PBP, Pc-1, TRPP1	uc002cos.1	P98161	OTTHUMG00000155795	ENST00000262304.4:c.12025G>A	16.37:g.2140788C>T	ENSP00000262304:p.Val4009Met					PKD1_ENST00000423118.1_Missense_Mutation_p.V4008M	p.V4009M	NM_001009944.2	NP_001009944.2	P98161	PKD1_HUMAN			44	12233	-			4009					Q15140|Q15141	Missense_Mutation	SNP	ENST00000262304.4	37	c.12025G>A	CCDS32369.1	.	.	.	.	.	.	.	.	.	.	c	13.20	2.165028	0.38217	.	.	ENSG00000008710	ENST00000262304;ENST00000423118;ENST00000306101	T;T	0.70986	-0.53;-0.53	3.25	2.17	0.27698	Polycystin cation channel, PKD1/PKD2 (1);	0.378221	0.23865	U	0.043802	T	0.75280	0.3828	M	0.64997	1.995	0.28244	N	0.925559	D;D	0.76494	0.999;0.999	D;D	0.65684	0.935;0.937	T	0.63703	-0.6577	10	0.34782	T	0.22	.	6.1303	0.20201	0.0:0.6726:0.0:0.3274	.	4008;4009	P98161-3;P98161	.;PKD1_HUMAN	M	4009;4008;3343	ENSP00000262304:V4009M;ENSP00000399501:V4008M	ENSP00000262304:V4009M	V	-	1	0	PKD1	2080789	0.101000	0.21875	0.998000	0.56505	0.709000	0.40893	0.481000	0.22260	1.669000	0.50854	0.306000	0.20318	GTG		0.672	PKD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341688.1			14	78	0	0	0	1	0	14	78					T	2140788	C	T	2140788	3	4	21	1	0	0	0	0	1	0	0	0	11963	536	19	1	898	1	PKD1	16	2140788	Missense_Mutation	SNP	C	TCGA-CH-5748-01A-11D-1576-08	1831300	2140788	88213965	40	863											
CREBBP	1387	broad.mit.edu	37	chr16	3786756	3786756	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttttgatcaggtgggtggcaAtggaagatgtaatcatctcc	10	13	12	6	0	3	2	2	1	1	1	4	3	3	3	1	4	0	2	1	4	3	3			TCGA-CH-5748-01A-11D-1576-08	TCGA-CH-5748-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b436546f-99a3-4f71-b1aa-8653fe9471ec	feca02f5-4ac6-4bff-8de2-4256809ab640	g.chr16:3786756A>G	ENST00000262367.5	-	27	5264	c.4455T>C	c.(4453-4455)caT>caC	p.H1485H	CREBBP_ENST00000382070.3_Silent_p.H1447H	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	1485	CBP/p300-type HAT. {ECO:0000255|PROSITE- ProRule:PRU01065}.|Cys/His-rich.|Interaction with TRERF1.				cellular lipid metabolic process (GO:0044255)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|embryonic digit morphogenesis (GO:0042733)|gene expression (GO:0010467)|germ-line stem cell maintenance (GO:0030718)|histone acetylation (GO:0016573)|homeostatic process (GO:0042592)|innate immune response (GO:0045087)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein complex assembly (GO:0006461)|regulation of smoothened signaling pathway (GO:0008589)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|response to hypoxia (GO:0001666)|rhythmic process (GO:0048511)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nuclear body (GO:0016604)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|histone acetyltransferase activity (GO:0004402)|MRF binding (GO:0043426)|p53 binding (GO:0002039)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.H1485H(2)		NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		GTGGGTGGCAATGGAAGATGT	0.512			"T, N, F, Mis, O"	"MLL, MORF, RUNXBP2"	"ALL, AML, DLBCL, B-NHL "		Rubinstein-Taybi syndrome																															ENST00000262367.5				Dom/Rec	yes		16	16p13.3	1387	"T, N, F, Mis, O"	CREB binding protein (CBP)	yes	Rubinstein-Taybi syndrome	L	"MLL, MORF, RUNXBP2"		"ALL, AML, DLBCL, B-NHL "		2	Substitution - coding silent(2)	p.H1485H(2)	prostate(2)	NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295						c.(4453-4455)caT>caC		CREB binding protein							237	202	214					16																	3786756		2197	4300	6497	SO:0001819	synonymous_variant	1387				cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding	g.chr16:3786756A>G	U85962	CCDS10509.1, CCDS45399.1	16p13.3	2011-07-01	2008-08-01		ENSG00000005339	ENSG00000005339		"Chromatin-modifying enzymes / K-acetyltransferases"	2348	protein-coding gene	gene with protein product		600140	"Rubinstein-Taybi syndrome"	RSTS		8413673	Standard	NM_001079846		Approved	RTS, CBP, KAT3A	uc002cvv.3	Q92793	OTTHUMG00000129431	ENST00000262367.5:c.4455T>C	16.37:g.3786756A>G						CREBBP_ENST00000382070.3_Silent_p.H1447H	p.H1485H	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)	27	5264	-		Ovarian(90;0.0266)	1485			Cys/His-rich.|Interaction with TRERF1.		D3DUC9|O00147|Q16376|Q4LE28	Silent	SNP	ENST00000262367.5	37	c.4455T>C	CCDS10509.1																																																																																				0.512	CREBBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251591.2	NM_004380		16	169	0	0	0	1	0	16	169					G	3786756	A	G	3786756	2	3	21	1	0	0	0	0	0	0	0	1	3861	98	4	4		4	CREBBP	16	3786756	Silent	SNP	A	TCGA-CH-5748-01A-11D-1576-08	1645968	3786756	86567997	41	864											
XPO6	23214	broad.mit.edu	37	chr16	28157508	28157508	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agatatccaaacaagagaagTaaccttcatgagtaggctat	17	9	8	7	0	1	3	1	1	0	2	2	4	2	3	2	1	2	3	2	1	7	5			TCGA-CH-5748-01A-11D-1576-08	TCGA-CH-5748-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b436546f-99a3-4f71-b1aa-8653fe9471ec	feca02f5-4ac6-4bff-8de2-4256809ab640	g.chr16:28157508T>C	ENST00000304658.5	-	9	1741	c.1241A>G	c.(1240-1242)tAc>tGc	p.Y414C	XPO6_ENST00000565698.1_Missense_Mutation_p.Y400C	NM_015171.3	NP_055986.1	Q96QU8	XPO6_HUMAN	exportin 6	414					protein export from nucleus (GO:0006611)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein transporter activity (GO:0008565)	p.Y414C(3)		breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	25						ACAAGAGAAGTAACCTTCATG	0.358																																						ENST00000304658.5																			3	Substitution - Missense(3)	p.Y414C(3)	prostate(3)	breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	25						c.(1240-1242)tAc>tGc		exportin 6							139	124	129					16																	28157508		1825	4078	5903	SO:0001583	missense	23214				protein export from nucleus		protein binding|protein transporter activity	g.chr16:28157508T>C	AY026388	CCDS42135.1, CCDS59266.1	16p11.2	2011-04-13	2003-03-11	2003-03-14		ENSG00000169180		"Exportins"	19733	protein-coding gene	gene with protein product		608411	"RAN binding protein 20"	RANBP20		14592989	Standard	NM_001270940		Approved	KIAA0370, FLJ22519	uc002dpa.2	Q96QU8		ENST00000304658.5:c.1241A>G	16.37:g.28157508T>C	ENSP00000302790:p.Tyr414Cys					XPO6_ENST00000565698.1_Missense_Mutation_p.Y400C	p.Y414C	NM_015171.2	NP_055986.1	Q96QU8	XPO6_HUMAN			9	1741	-			414					A1L3W4|D3DWF9|Q2YDX3|Q53G88|Q68G50|Q76N88|Q96CP8|Q9BT21	Missense_Mutation	SNP	ENST00000304658.5	37	c.1241A>G	CCDS42135.1	.	.	.	.	.	.	.	.	.	.	T	21.3	4.122051	0.77436	.	.	ENSG00000169180	ENST00000304658	T	0.59083	0.29	5.07	5.07	0.68467	Armadillo-like helical (1);Armadillo-type fold (1);	0.061384	0.64402	D	0.000002	T	0.72669	0.3489	M	0.70275	2.135	0.58432	D	0.999999	D;D	0.89917	1.0;0.999	D;P	0.66847	0.947;0.887	T	0.76421	-0.2965	10	0.87932	D	0	-7.9345	12.9249	0.58254	0.0:0.0:0.0:1.0	.	414;414	B7ZM10;Q96QU8	.;XPO6_HUMAN	C	414	ENSP00000302790:Y414C	ENSP00000302790:Y414C	Y	-	2	0	XPO6	28065009	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.625000	0.83145	1.925000	0.55765	0.524000	0.50904	TAC		0.358	XPO6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433732.1	XM_055195		5	124	0	0	0	1	0	5	124					C	28157508	T	C	28157508	3	2	21	1	0	0	0	0	1	0	0	0	17445	1638	57	4	2200	4	XPO6	16	28157508	Missense_Mutation	SNP	T	TCGA-CH-5748-01A-11D-1576-08	24370752	28157508	62197245	42	865											
CRK	1398	broad.mit.edu	37	chr17	1359240	1359240	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgttgatgatgtagtgggAgacgcgcgagttctctgaga	8	11	16	6	3	1	4	0	3	1	2	2	7	1	4	0	1	0	4	0	1	1	3			TCGA-CH-5748-01A-11D-1576-08	TCGA-CH-5748-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b436546f-99a3-4f71-b1aa-8653fe9471ec	feca02f5-4ac6-4bff-8de2-4256809ab640	g.chr17:1359240A>C	ENST00000300574.2	-	1	312	c.172T>G	c.(172-174)Tcc>Gcc	p.S58A	CRK_ENST00000398970.5_Missense_Mutation_p.S58A|CRK_ENST00000574295.1_Missense_Mutation_p.S58A|CRK_ENST00000572145.1_Intron	NM_016823.3	NP_058431.2	P46108	CRK_HUMAN	v-crk avian sarcoma virus CT10 oncogene homolog	58	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				activation of MAPKK activity (GO:0000186)|blood coagulation (GO:0007596)|ephrin receptor signaling pathway (GO:0048013)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of signal transduction (GO:0009967)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of Rac protein signal transduction (GO:0035020)|regulation of Rho GTPase activity (GO:0032319)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ephrin receptor binding (GO:0046875)|SH2 domain binding (GO:0042169)	p.S58A(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(2)	9				UCEC - Uterine corpus endometrioid carcinoma (25;0.083)		ATGTAGTGGGAGACGCGCGAG	0.731																																						ENST00000300574.2																			1	Substitution - Missense(1)	p.S58A(1)	prostate(1)	central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(2)	9						c.(172-174)Tcc>Gcc		v-crk avian sarcoma virus CT10 oncogene homolog							26	30	29					17																	1359240		2200	4296	6496	SO:0001583	missense	1398				actin cytoskeleton organization|activation of MAPKK activity|blood coagulation|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of transcription from RNA polymerase II promoter	cytosol|endosome|nucleus|plasma membrane	protein binding|SH2 domain binding	g.chr17:1359240A>C	D10656	CCDS11002.1, CCDS45561.1	17p13	2013-07-09	2013-07-09		ENSG00000167193	ENSG00000167193		"SH2 domain containing"	2362	protein-coding gene	gene with protein product		164762				1690891	Standard	NM_005206		Approved		uc002fsl.3	P46108	OTTHUMG00000090317	ENST00000300574.2:c.172T>G	17.37:g.1359240A>C	ENSP00000300574:p.Ser58Ala					CRK_ENST00000572145.1_Intron|CRK_ENST00000574295.1_Missense_Mutation_p.S58A|CRK_ENST00000398970.5_Missense_Mutation_p.S58A	p.S58A	NM_016823.3	NP_058431.2	P46108	CRK_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.083)	1	312	-			58			SH2.		A8MWE8|B0LPE8|D3DTH6|Q96GA9|Q96HJ0	Missense_Mutation	SNP	ENST00000300574.2	37	c.172T>G	CCDS11002.1	.	.	.	.	.	.	.	.	.	.	A	29.7	5.030651	0.93575	.	.	ENSG00000167193	ENST00000300574;ENST00000398970	D;D	0.88431	-2.38;-2.38	4.72	4.72	0.59763	Src homology-3 domain (1);SH2 motif (5);	0.114545	0.64402	D	0.000009	D	0.91975	0.7458	L	0.50993	1.605	0.80722	D	1	B;D	0.69078	0.019;0.997	B;D	0.91635	0.356;0.999	D	0.92170	0.5743	10	0.56958	D	0.05	-21.9095	12.467	0.55764	1.0:0.0:0.0:0.0	.	58;58	P46108-2;P46108	.;CRK_HUMAN	A	58	ENSP00000300574:S58A;ENSP00000381942:S58A	ENSP00000300574:S58A	S	-	1	0	CRK	1305990	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.807000	0.75201	1.893000	0.54813	0.533000	0.62120	TCC		0.731	CRK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206679.1	NM_016823		7	40	0	0	0	1	0	7	40					C	1359240	A	C	1359240	3	2	21	1	0	0	0	0	1	0	0	0	3884	304	11	5	754	5	CRK	17	1359240	Missense_Mutation	SNP	A	TCGA-CH-5748-01A-11D-1576-08		1359240	79835970	43	866											
NEURL4	84461	broad.mit.edu	37	chr17	7221921	7221921	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgaagatgcagccccccagAgctgtccagccgcagtccca	10	5	10	16	1	0	3	0	1	0	2	2	3	2	3	6	0	4	3	6	0	1	0			TCGA-CH-5748-01A-11D-1576-08	TCGA-CH-5748-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b436546f-99a3-4f71-b1aa-8653fe9471ec	feca02f5-4ac6-4bff-8de2-4256809ab640	g.chr17:7221921A>G	ENST00000399464.2	-	23	3772	c.3757T>C	c.(3757-3759)Tct>Cct	p.S1253P	NEURL4_ENST00000570460.1_Missense_Mutation_p.S1229P|NEURL4_ENST00000574120.1_5'UTR|RP11-542C16.2_ENST00000575474.1_Silent_p.A66A|NEURL4_ENST00000315614.7_Missense_Mutation_p.S1251P	NM_032442.2	NP_115818.2	Q96JN8	NEUL4_HUMAN	neuralized E3 ubiquitin protein ligase 4	1253	NHR 6. {ECO:0000255|PROSITE- ProRule:PRU00400}.					cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)		p.S1253P(1)|p.S1251P(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						AGCCCCCCAGAGCTGTCCAGC	0.617																																						ENST00000399464.2																			2	Substitution - Missense(2)	p.S1253P(1)|p.S1251P(1)	prostate(2)	central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						c.(3757-3759)Tct>Cct		neuralized E3 ubiquitin protein ligase 4							48	54	52					17																	7221921		2037	4183	6220	SO:0001583	missense	84461							g.chr17:7221921A>G		CCDS42251.1, CCDS42252.1	17p13	2013-10-24	2013-10-24		ENSG00000215041	ENSG00000215041			34410	protein-coding gene	gene with protein product		615865	"neuralized homolog 4 (Drosophila)"			22261722, 22441691	Standard	NM_001005408		Approved	KIAA1787	uc002gga.1	Q96JN8	OTTHUMG00000132319	ENST00000399464.2:c.3757T>C	17.37:g.7221921A>G	ENSP00000382390:p.Ser1253Pro					NEURL4_ENST00000574120.1_5'UTR|RP11-542C16.2_ENST00000575474.1_Silent_p.A66A|NEURL4_ENST00000570460.1_Missense_Mutation_p.S1229P|NEURL4_ENST00000315614.7_Missense_Mutation_p.S1251P	p.S1253P	NM_032442.2	NP_115818.2					23	3772	-								Q6GPI8|Q96IU9|Q9H0B0	Missense_Mutation	SNP	ENST00000399464.2	37	c.3757T>C	CCDS42251.1	.	.	.	.	.	.	.	.	.	.	A	9.511	1.105674	0.20632	.	.	ENSG00000215041	ENST00000315614;ENST00000399464	T;T	0.33438	1.41;1.41	5.36	2.98	0.34508	NEUZ (1);	0.211175	0.41605	D	0.000845	T	0.30665	0.0772	M	0.62723	1.935	0.20563	N	0.999889	B;B	0.28880	0.226;0.145	B;B	0.34242	0.178;0.086	T	0.27020	-1.0086	10	0.56958	D	0.05	-0.487	7.0535	0.25085	0.5845:0.28:0.0:0.1355	.	1251;1253	Q96JN8-2;Q96JN8	.;NEUL4_HUMAN	P	1251;1253	ENSP00000319826:S1251P;ENSP00000382390:S1253P	ENSP00000319826:S1251P	S	-	1	0	NEURL4	7162645	0.634000	0.27190	0.971000	0.41717	0.004000	0.04260	2.013000	0.40942	0.842000	0.35045	0.460000	0.39030	TCT		0.617	NEURL4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255434.2	NM_032442		8	63	0	0	0	1	0	8	63					G	7221921	A	G	7221921	3	3	21	1	0	0	0	0	1	0	0	0	10347	304	11	4	959	4	NEURL4	17	7221921	Missense_Mutation	SNP	A	TCGA-CH-5748-01A-11D-1576-08	5862681	7221921	73973289	44	867											
NLE1	54475	broad.mit.edu	37	chr17	33462276	33462276	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	acccctactcacttgcccgtCctgccatcccacagcttgat	7	10	5	19	1	1	1	1	1	0	0	3	1	3	1	6	0	4	1	6	0	1	3			TCGA-CH-5748-01A-11D-1576-08	TCGA-CH-5748-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b436546f-99a3-4f71-b1aa-8653fe9471ec	feca02f5-4ac6-4bff-8de2-4256809ab640	g.chr17:33462276C>T	ENST00000442241.4	-	10	1245	c.1206G>A	c.(1204-1206)agG>agA	p.R402R	NLE1_ENST00000586869.1_Silent_p.R110R|NLE1_ENST00000593176.1_5'Flank|NLE1_ENST00000360831.5_Silent_p.R360R	NM_001014445.1|NM_018096.3	NP_001014445.1|NP_060566.2	Q9NVX2	NLE1_HUMAN	notchless homolog 1 (Drosophila)	402					hematopoietic stem cell homeostasis (GO:0061484)|inner cell mass cell differentiation (GO:0001826)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:2001268)|negative regulation of mitotic cell cycle (GO:0045930)|Notch signaling pathway (GO:0007219)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|ribosomal large subunit biogenesis (GO:0042273)	nucleolus (GO:0005730)|nucleus (GO:0005634)		p.R402R(2)		NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)	22		Ovarian(249;0.17)				ACTTGCCCGTCCTGCCATCCC	0.567																																						ENST00000586869.1																			2	Substitution - coding silent(2)	p.R402R(2)	prostate(2)	NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)	22						c.(328-330)agG>agA		notchless homolog 1 (Drosophila)							165	135	145					17																	33462276		2203	4300	6503	SO:0001819	synonymous_variant	54475					nucleolus		g.chr17:33462276C>T		CCDS11291.1, CCDS45647.1	17q12	2013-01-10		2005-08-09	ENSG00000073536	ENSG00000073536		"WD repeat domain containing"	19889	protein-coding gene	gene with protein product	"Notchless gene homolog, (Drosophila)"						Standard	XM_005257989		Approved	FLJ10458	uc002hiy.1	Q9NVX2	OTTHUMG00000132928	ENST00000442241.4:c.1206G>A	17.37:g.33462276C>T						NLE1_ENST00000360831.5_Silent_p.R360R|NLE1_ENST00000442241.4_Silent_p.R402R	p.R110R			Q9NVX2	NLE1_HUMAN			9	1349	-		Ovarian(249;0.17)	402					O60868|Q59GJ8|Q9BU54	Silent	SNP	ENST00000442241.4	37	c.330G>A	CCDS11291.1	.	.	.	.	.	.	.	.	.	.	C	9.469	1.095243	0.20471	.	.	ENSG00000073536	ENST00000436188	.	.	.	5.11	5.11	0.69529	.	.	.	.	.	T	0.71945	0.3400	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.70353	-0.4895	4	.	.	.	-22.6767	16.0884	0.81073	0.0:1.0:0.0:0.0	.	.	.	.	E	182	.	.	G	-	2	0	NLE1	30486389	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	0.970000	0.29383	2.637000	0.89404	0.650000	0.86243	GGA		0.567	NLE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256441.2	NM_018096		9	80	0	0	0	1	0	9	80					T	33462276	C	T	33462276	2	4	21	1	0	0	0	0	0	0	0	1	10460	854	30	3		3	NLE1	17	33462276	Silent	SNP	C	TCGA-CH-5748-01A-11D-1576-08	26240355	33462276	47732934	45	868											
ZNF799	90576	broad.mit.edu	37	chr19	12502821	12502821	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tccacattcatgatactcatAtggtttgtgcccagcaccaa	11	12	6	12	0	2	1	2	1	0	0	3	1	3	1	3	1	3	2	3	1	3	4	rs2902319		TCGA-CH-5748-01A-11D-1576-08	TCGA-CH-5748-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b436546f-99a3-4f71-b1aa-8653fe9471ec	feca02f5-4ac6-4bff-8de2-4256809ab640	g.chr19:12502821A>G	ENST00000430385.3	-	4	591	c.391T>C	c.(391-393)Tat>Cat	p.Y131H	CTD-3105H18.16_ENST00000595562.1_Missense_Mutation_p.Y131H|ZNF799_ENST00000419318.1_Missense_Mutation_p.Y99H|CTD-3105H18.14_ENST00000435033.1_Intron	NM_001080821.2	NP_001074290.1	Q96GE5	ZN799_HUMAN	zinc finger protein 799	131					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.Y131H(1)		breast(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(2)	19						TGATACTCATATGGTTTGTGC	0.448																																						ENST00000419318.1																			1	Substitution - Missense(1)	p.Y131H(1)	prostate(1)	breast(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(2)	19						c.(295-297)Tat>Cat		zinc finger protein 799							169	155	160					19																	12502821		2203	4299	6502	SO:0001583	missense	90576				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12502821A>G	BC009517	CCDS45989.1	19p13.2	2013-01-08			ENSG00000196466	ENSG00000196466		"Zinc fingers, C2H2-type", "-"	28071	protein-coding gene	gene with protein product			"zinc finger protein 842"	ZNF842			Standard	NM_001080821		Approved	HIT-40, MGC71805	uc002mts.4	Q96GE5	OTTHUMG00000156408	ENST00000430385.3:c.391T>C	19.37:g.12502821A>G	ENSP00000411084:p.Tyr131His					CTD-3105H18.14_ENST00000435033.1_Intron|ZNF799_ENST00000430385.3_Missense_Mutation_p.Y131H|CTD-3105H18.16_ENST00000595562.1_Missense_Mutation_p.Y131H	p.Y99H			Q96GE5	ZN799_HUMAN			4	1044	-			131						Missense_Mutation	SNP	ENST00000430385.3	37	c.295T>C	CCDS45989.1	.	.	.	.	.	.	.	.	.	.	G	3.267	-0.149998	0.06585	.	.	ENSG00000196466	ENST00000419318;ENST00000430385	T;T	0.08282	3.11;3.25	1.12	-2.24	0.06909	Zinc finger, C2H2-like (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.08403	0.0209	M	0.62016	1.91	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.28964	-1.0027	9	0.49607	T	0.09	.	3.7569	0.08589	0.4985:0.1981:0.3033:0.0	rs2902319	131	Q96GE5	ZN799_HUMAN	H	99;131	ENSP00000415278:Y99H;ENSP00000411084:Y131H	ENSP00000415278:Y99H	Y	-	1	0	ZNF799	12363821	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.678000	0.01942	-2.231000	0.00718	-1.432000	0.01085	TAT		0.448	ZNF799-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344099.2	NM_001080821		4	181	0	0	0	1	0	4	181					G	12502821	A	G	12502821	3	3	21	1	0	0	0	0	1	0	0	0	18163	449	16	4	1544	4	ZNF799	19	12502821	Missense_Mutation	SNP	A	TCGA-CH-5748-01A-11D-1576-08		12502821	46626162	46	869											
ZNF781	163115	broad.mit.edu	37	chr19	38160949	38160949	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctttccacatatctgacatTcatagggtttctgattagca	10	15	7	9	0	3	2	1	2	2	0	4	2	4	2	1	1	1	3	1	1	3	6			TCGA-CH-5748-01A-11D-1576-08	TCGA-CH-5748-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b436546f-99a3-4f71-b1aa-8653fe9471ec	feca02f5-4ac6-4bff-8de2-4256809ab640	g.chr19:38160949T>A	ENST00000590008.1	-	5	953	c.101A>T	c.(100-102)gAa>gTa	p.E34V	ZFP30_ENST00000586732.1_Intron|ZNF781_ENST00000358582.4_Missense_Mutation_p.E34V|ZNF781_ENST00000593040.1_5'Flank			Q8N8C0	ZN781_HUMAN	zinc finger protein 781	34					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.E34V(1)		NS(1)|breast(2)|large_intestine(5)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	24						TATCTGACATTCATAGGGTTT	0.383																																						ENST00000358582.4																			1	Substitution - Missense(1)	p.E34V(1)	prostate(1)	NS(1)|breast(2)|large_intestine(5)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	24						c.(100-102)gAa>gTa		zinc finger protein 781							167	164	165					19																	38160949		2203	4300	6503	SO:0001583	missense	163115				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:38160949T>A	AK097019	CCDS12507.1	19q13.12	2013-01-08				ENSG00000196381		"Zinc fingers, C2H2-type"	26745	protein-coding gene	gene with protein product							Standard	NM_152605		Approved	FLJ37549	uc002ogy.2	Q8N8C0		ENST00000590008.1:c.101A>T	19.37:g.38160949T>A	ENSP00000466370:p.Glu34Val					ZNF781_ENST00000590008.1_Missense_Mutation_p.E34V|ZFP30_ENST00000586732.1_Intron	p.E34V	NM_152605.3	NP_689818.2	Q8N8C0	ZN781_HUMAN			4	849	-			34					Q2VPJ8	Missense_Mutation	SNP	ENST00000590008.1	37	c.101A>T	CCDS12507.1	.	.	.	.	.	.	.	.	.	.	T	14.57	2.574628	0.45902	.	.	ENSG00000196381	ENST00000358582;ENST00000545586	T	0.07688	3.17	2.28	2.28	0.28536	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.08268	0.0206	L	0.27944	0.81	0.09310	N	1	P	0.35527	0.507	B	0.42653	0.394	T	0.32348	-0.9910	9	0.59425	D	0.04	-1.037	6.3202	0.21213	0.0:0.0:0.2547:0.7453	.	34	Q8N8C0	ZN781_HUMAN	V	34	ENSP00000351391:E34V	ENSP00000351391:E34V	E	-	2	0	ZNF781	42852789	0.000000	0.05858	0.013000	0.15412	0.306000	0.27790	-0.060000	0.11712	1.029000	0.39812	0.338000	0.21704	GAA		0.383	ZNF781-002	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000459495.2	NM_152605		21	290	0	0	0	1	0	21	290					A	38160949	T	A	38160949	3	1	21	1	0	0	0	0	1	0	0	0	18151	1783	62	5	886	5	ZNF781	19	38160949	Missense_Mutation	SNP	T	TCGA-CH-5748-01A-11D-1576-08	25658128	38160949	20968034	47	870											
SIGLEC11	114132	broad.mit.edu	37	chr19	50455562	50455562	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccgatgcttacctgaagaCgacaaggcaggaacagaaag	15	5	11	10	2	0	3	0	1	0	2	1	6	1	4	2	2	3	2	2	2	5	1	rs140702198		TCGA-CH-5748-01A-11D-1576-08	TCGA-CH-5748-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b436546f-99a3-4f71-b1aa-8653fe9471ec	feca02f5-4ac6-4bff-8de2-4256809ab640	g.chr19:50455562C>T	ENST00000447370.2	-	9	1831	c.1741G>A	c.(1741-1743)Gtc>Atc	p.V581I	SIGLEC11_ENST00000426971.2_Missense_Mutation_p.V485I|CTC-326K19.6_ENST00000451973.1_Intron|U3_ENST00000408198.1_RNA	NM_052884.2	NP_443116.2	Q96RL6	SIG11_HUMAN	sialic acid binding Ig-like lectin 11	581					cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)	p.V569I(1)|p.V581I(1)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(6)|pancreas(1)|prostate(1)|skin(1)	32		all_lung(116;0.00318)|all_neural(266;0.107)|Ovarian(192;0.17)		GBM - Glioblastoma multiforme(134;0.00107)|OV - Ovarian serous cystadenocarcinoma(262;0.00517)		TACCTGAAGACGACAAGGCAG	0.622													C|||	1	0.000199681	8e-04	0	5008	,	,		18765	0		0	False		,,,				2504	0					ENST00000447370.2																			2	Substitution - Missense(2)	p.V569I(1)|p.V581I(1)	prostate(2)	breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(6)|pancreas(1)|prostate(1)|skin(1)	32						c.(1741-1743)Gtc>Atc		sialic acid binding Ig-like lectin 11							78	78	78					19																	50455562		2203	4300	6503	SO:0001583	missense	114132				cell adhesion	integral to membrane	sugar binding	g.chr19:50455562C>T	AF337818	CCDS12790.2, CCDS46150.1	19q13.3	2013-01-29			ENSG00000161640	ENSG00000161640		"Sialic acid binding Ig-like lectins", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	15622	protein-coding gene	gene with protein product		607157				11986327	Standard	NM_052884		Approved		uc010ybi.2	Q96RL6	OTTHUMG00000157077	ENST00000447370.2:c.1741G>A	19.37:g.50455562C>T	ENSP00000412361:p.Val581Ile					CTC-326K19.6_ENST00000451973.1_Intron|SIGLEC11_ENST00000426971.2_Missense_Mutation_p.V485I	p.V581I	NM_052884.2	NP_443116.2	Q96RL6	SIG11_HUMAN		GBM - Glioblastoma multiforme(134;0.00107)|OV - Ovarian serous cystadenocarcinoma(262;0.00517)	9	1831	-		all_lung(116;0.00318)|all_neural(266;0.107)|Ovarian(192;0.17)	581						Missense_Mutation	SNP	ENST00000447370.2	37	c.1741G>A	CCDS12790.2	.	.	.	.	.	.	.	.	.	.	C	0.133	-1.111219	0.01813	.	.	ENSG00000161640	ENST00000447370;ENST00000458019	T	0.53857	0.6	3.14	-6.27	0.02026	.	2.248880	0.01854	N	0.036149	T	0.15739	0.0379	N	0.01209	-0.955	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.30504	-0.9976	10	0.02654	T	1	.	1.3741	0.02216	0.1835:0.2933:0.1047:0.4185	.	485;581	Q96RL6-2;Q96RL6	.;SIG11_HUMAN	I	581;485	ENSP00000412361:V581I	ENSP00000412361:V581I	V	-	1	0	SIGLEC11	55147374	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.895000	0.01606	-1.594000	0.01615	-3.096000	0.00064	GTC		0.622	SIGLEC11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000347382.1	NM_052884		6	97	0	0	0	1	0	6	97					T	50455562	C	T	50455562	3	4	21	1	0	0	0	0	1	0	0	0	14307	536	19	1	367	1	SIGLEC11	19	50455562	Missense_Mutation	SNP	C	TCGA-CH-5748-01A-11D-1576-08	12294613	50455562	8673421	48	871											
RASSF2	9770	broad.mit.edu	37	chr20	4770305	4770305	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atggtgctgttgatgcggacGttggtgacagagccataggc	8	10	16	7	2	0	3	0	2	0	1	0	4	0	4	1	4	3	3	1	4	1	3			TCGA-CH-5748-01A-11D-1576-08	TCGA-CH-5748-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b436546f-99a3-4f71-b1aa-8653fe9471ec	feca02f5-4ac6-4bff-8de2-4256809ab640	g.chr20:4770305G>A	ENST00000379400.3	-	8	771	c.576C>T	c.(574-576)aaC>aaT	p.N192N	RASSF2_ENST00000379376.2_Silent_p.N192N|RASSF2_ENST00000478553.1_5'UTR	NM_014737.2	NP_055552.1	P50749	RASF2_HUMAN	Ras association (RalGDS/AF-6) domain family member 2	192	Ras-associating. {ECO:0000255|PROSITE- ProRule:PRU00166}.				bone remodeling (GO:0046849)|cell cycle (GO:0007049)|epidermal growth factor receptor signaling pathway via I-kappaB kinase/NF-kappaB cascade (GO:0038168)|homeostasis of number of cells (GO:0048872)|negative regulation of NIK/NF-kappaB signaling (GO:1901223)|ossification (GO:0001503)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoclast differentiation (GO:0045670)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.N192N(1)		endometrium(3)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|pancreas(2)|prostate(2)|skin(2)	34						TGATGCGGACGTTGGTGACAG	0.542																																					Melanoma(158;1891 3343 50738)	ENST00000379400.3																			1	Substitution - coding silent(1)	p.N192N(1)	prostate(1)	endometrium(3)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|pancreas(2)|prostate(2)|skin(2)	34						c.(574-576)aaC>aaT		Ras association (RalGDS/AF-6) domain family member 2							156	137	143					20																	4770305		2203	4300	6503	SO:0001819	synonymous_variant	9770				cell cycle|signal transduction	nucleus	protein binding	g.chr20:4770305G>A	D79990	CCDS13083.1	20p13	2011-08-12	2008-02-22		ENSG00000101265	ENSG00000101265			9883	protein-coding gene	gene with protein product	"centromere protein 34"	609492				8724849, 15806169	Standard	NM_014737		Approved	KIAA0168, CENP-34	uc002wld.3	P50749	OTTHUMG00000031790	ENST00000379400.3:c.576C>T	20.37:g.4770305G>A						RASSF2_ENST00000478553.1_5'UTR|RASSF2_ENST00000379376.2_Silent_p.N192N	p.N192N	NM_014737.2	NP_055552.1	P50749	RASF2_HUMAN			8	771	-			192			Ras-associating.		A6NIX9|A8K5Z3|Q17S06|Q53HD0|Q6AHZ2|Q8IZA5	Silent	SNP	ENST00000379400.3	37	c.576C>T	CCDS13083.1																																																																																				0.542	RASSF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077828.1	NM_014737		7	66	0	0	0	1	0	7	66					A	4770305	G	A	4770305	2	1	21	1	0	0	0	0	0	0	0	1	13086	1136	40	1		1	RASSF2	20	4770305	Silent	SNP	G	TCGA-CH-5748-01A-11D-1576-08		4770305	58255215	49	872											
LDOC1L	84247	broad.mit.edu	37	chr22	44892839	44892839	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcagagcatctgcctctctcGcacagccctattagaggcag	9	8	10	14	1	2	2	0	0	2	2	4	2	2	2	2	1	3	4	2	1	2	2			TCGA-CH-5748-01A-11D-1576-08	TCGA-CH-5748-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b436546f-99a3-4f71-b1aa-8653fe9471ec	feca02f5-4ac6-4bff-8de2-4256809ab640	g.chr22:44892839G>A	ENST00000341255.3	-	2	1107	c.598C>T	c.(598-600)Cga>Tga	p.R200*		NM_032287.2	NP_115663.2	Q6ICC9	LDOCL_HUMAN	leucine zipper, down-regulated in cancer 1-like	200								p.R200*(1)		breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(3)|prostate(2)	11		Ovarian(80;0.024)|all_neural(38;0.0416)		LUAD - Lung adenocarcinoma(64;0.0161)		TGCCTCTCTCGCACAGCCCTA	0.647																																						ENST00000341255.3																			1	Substitution - Nonsense(1)	p.R200*(1)	prostate(1)	breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(3)|prostate(2)	11						c.(598-600)Cga>Tga		leucine zipper, down-regulated in cancer 1-like							29	32	31					22																	44892839		2203	4300	6503	SO:0001587	stop_gained	84247							g.chr22:44892839G>A	CR456439	CCDS33662.1	22q13.3	2006-09-06			ENSG00000188636	ENSG00000188636			13343	protein-coding gene	gene with protein product						15716091, 16093683	Standard	NM_032287		Approved	dJ1033E15.2, DKFZp761O17121, Mart6, Mar6	uc003beu.1	Q6ICC9	OTTHUMG00000150465	ENST00000341255.3:c.598C>T	22.37:g.44892839G>A	ENSP00000340434:p.Arg200*						p.R200*	NM_032287.2	NP_115663.2	Q6ICC9	LDOCL_HUMAN		LUAD - Lung adenocarcinoma(64;0.0161)	2	1107	-		Ovarian(80;0.024)|all_neural(38;0.0416)	200					Q6ZTR1	Nonsense_Mutation	SNP	ENST00000341255.3	37	c.598C>T	CCDS33662.1	.	.	.	.	.	.	.	.	.	.	G	39	7.527102	0.98339	.	.	ENSG00000188636	ENST00000341255	.	.	.	3.18	0.944	0.19537	.	0.428844	0.16684	N	0.203809	.	.	.	.	.	.	0.48452	D	0.999658	.	.	.	.	.	.	.	.	.	.	0.11794	T	0.64	-3.8429	8.0677	0.30669	0.0:0.0:0.5675:0.4325	.	.	.	.	X	200	.	ENSP00000340434:R200X	R	-	1	2	LDOC1L	43271503	0.831000	0.29352	0.048000	0.18961	0.666000	0.39218	0.789000	0.26886	0.330000	0.23485	0.555000	0.69702	CGA		0.647	LDOC1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318222.1	NM_032287		11	63	0	0	0	1	0	11	63					A	44892839	G	A	44892839	4	1	21	1	0	0	0	0	0	1	0	0	8710	1095	38	1	125	1	LDOC1L	22	44892839	Nonsense_Mutation	SNP	G	TCGA-CH-5748-01A-11D-1576-08		44892839	6411727	50	873											
MED12	9968	broad.mit.edu	37	chrX	70349258	70349258	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atggagccgtgtttgctgttCtcaaggctgtgtttgtactt	5	17	12	7	1	1	0	1	0	1	0	2	1	1	1	1	2	3	6	1	2	2	5			TCGA-CH-5748-01A-11D-1576-08	TCGA-CH-5748-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b436546f-99a3-4f71-b1aa-8653fe9471ec	feca02f5-4ac6-4bff-8de2-4256809ab640	g.chrX:70349258C>T	ENST00000374080.3	+	26	3702	c.3670C>T	c.(3670-3672)Ctc>Ttc	p.L1224F	MED12_ENST00000333646.6_Missense_Mutation_p.L1224F|MED12_ENST00000374102.1_Missense_Mutation_p.L1224F			Q93074	MED12_HUMAN	mediator complex subunit 12	1224					androgen receptor signaling pathway (GO:0030521)|axis elongation involved in somitogenesis (GO:0090245)|canonical Wnt signaling pathway (GO:0060070)|gene expression (GO:0010467)|heart development (GO:0007507)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|negative regulation of Wnt signaling pathway (GO:0030178)|neural tube closure (GO:0001843)|oligodendrocyte development (GO:0014003)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|Schwann cell development (GO:0014044)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein C-terminus binding (GO:0008022)|protein domain specific binding (GO:0019904)|receptor activity (GO:0004872)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II transcription cofactor activity (GO:0001104)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)	p.L1224F(10)|p.V1223>?(2)|p.L1224V(2)		breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					GTTTGCTGTTCTCAAGGCTGT	0.562			"M, S"		uterine leiomyoma		Opitz-Kaveggia Syndrome				OREG0019857	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000333646.6				Dom	yes		X	Xq13	9968	"M, S"	mediator complex subunit 12	Yes	Opitz-Kaveggia Syndrome	M			uterine leiomyoma		14	Substitution - Missense(12)|Complex(2)	p.L1224F(10)|p.V1223>?(2)|p.L1224V(2)	prostate(12)|lung(2)	breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420						c.(3670-3672)Ctc>Ttc		mediator complex subunit 12							49	51	51					X																	70349258		2086	4189	6275	SO:0001583	missense	9968				androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	g.chrX:70349258C>T	U80742	CCDS43970.1	Xq13	2011-02-14	2007-07-30	2004-11-26	ENSG00000184634	ENSG00000184634			11957	protein-coding gene	gene with protein product		300188	"trinucleotide repeat containing 11 (THR-associated protein, 230kDa subunit)", "mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)", "FG syndrome 1"	TNRC11, FGS1		9225980, 10198638, 17334363, 20507344	Standard	NM_005120		Approved	CAGH45, HOPA, OPA1, TRAP230, KIAA0192, OKS	uc004dyy.3	Q93074	OTTHUMG00000021788	ENST00000374080.3:c.3670C>T	X.37:g.70349258C>T	ENSP00000363193:p.Leu1224Phe		OREG0019857	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1121	MED12_ENST00000374080.3_Missense_Mutation_p.L1224F|MED12_ENST00000374102.1_Missense_Mutation_p.L1224F	p.L1224F	NM_005120.2	NP_005111.2	Q93074	MED12_HUMAN			26	3869	+	Renal(35;0.156)		1224					O15410|O75557|Q9UHV6|Q9UND7	Missense_Mutation	SNP	ENST00000374080.3	37	c.3670C>T	CCDS43970.1	.	.	.	.	.	.	.	.	.	.	.	20.2	3.946602	0.73672	.	.	ENSG00000184634	ENST00000333646;ENST00000536756;ENST00000374102;ENST00000374080;ENST00000430072	T;T;T;T	0.34472	1.36;1.36;1.36;1.36	5.09	5.09	0.68999	.	0.000000	0.85682	D	0.000000	T	0.61261	0.2333	M	0.72353	2.195	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.998;0.999;0.998	T	0.65100	-0.6250	10	0.87932	D	0	-17.5145	17.9253	0.88982	0.0:1.0:0.0:0.0	.	1224;1071;1224;1224	F5H3Y1;Q7Z3Z5;Q93074-3;Q93074	.;.;.;MED12_HUMAN	F	1224;1224;1224;1224;1192	ENSP00000333125:L1224F;ENSP00000363215:L1224F;ENSP00000363193:L1224F;ENSP00000414203:L1192F	ENSP00000333125:L1224F	L	+	1	0	MED12	70265983	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.474000	0.53129	2.509000	0.84616	0.529000	0.55759	CTC		0.562	MED12-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000057105.1	NM_005120		8	33	0	0	0	1	0	8	33					T	70349258	C	T	70349258	3	4	21	1	0	0	0	0	1	0	0	0	9428	913	32	3	3772	3	MED12	23	70349258	Missense_Mutation	SNP	C	TCGA-CH-5748-01A-11D-1576-08		70349258	84921302	51	874											
TCEAL6	158931	broad.mit.edu	37	chrX	101395981	101395981	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtttttctttttgctttcCggggcacataatctccagcc	5	17	7	12	1	2	0	0	0	2	0	4	0	3	0	3	2	2	3	3	2	1	6			TCGA-CH-5748-01A-11D-1576-08	TCGA-CH-5748-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b436546f-99a3-4f71-b1aa-8653fe9471ec	feca02f5-4ac6-4bff-8de2-4256809ab640	g.chrX:101395981C>T	ENST00000372774.3	-	3	572	c.323G>A	c.(322-324)cGg>cAg	p.R108Q	TCEAL6_ENST00000372773.1_Missense_Mutation_p.R108Q	NM_001006938.2	NP_001006939.2	Q6IPX3	TCAL6_HUMAN	transcription elongation factor A (SII)-like 6	108					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)		p.R108Q(1)		central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	14						TTTTGCTTTCCGGGGCACATA	0.602																																						ENST00000372774.3																			1	Substitution - Missense(1)	p.R108Q(1)	prostate(1)	central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	14						c.(322-324)cGg>cAg		transcription elongation factor A (SII)-like 6							101	99	99					X																	101395981		2203	4300	6503	SO:0001583	missense	158931				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chrX:101395981C>T	BC071675	CCDS43978.1	Xq22.1	2014-03-21			ENSG00000204071	ENSG00000204071			24553	protein-coding gene	gene with protein product						16221301	Standard	NM_001006938		Approved	WEX2	uc004eiq.3	Q6IPX3	OTTHUMG00000022050	ENST00000372774.3:c.323G>A	X.37:g.101395981C>T	ENSP00000361860:p.Arg108Gln					TCEAL6_ENST00000372773.1_Missense_Mutation_p.R108Q	p.R108Q	NM_001006938.2	NP_001006939.2	Q6IPX3	TCAL6_HUMAN			3	572	-			108					Q5H9J8	Missense_Mutation	SNP	ENST00000372774.3	37	c.323G>A	CCDS43978.1	.	.	.	.	.	.	.	.	.	.	C	17.81	3.481625	0.63849	.	.	ENSG00000204071	ENST00000372774;ENST00000372773;ENST00000536102	T;T	0.09445	2.98;2.98	2.75	1.88	0.25563	.	0.000000	0.35903	N	0.002901	T	0.24890	0.0604	M	0.74258	2.255	0.27905	N	0.938836	D	0.76494	0.999	D	0.77557	0.99	T	0.03034	-1.1080	10	0.42905	T	0.14	.	4.918	0.13856	0.0:0.8229:0.0:0.1771	.	108	Q6IPX3-2	.	Q	108	ENSP00000361860:R108Q;ENSP00000361859:R108Q	ENSP00000361859:R108Q	R	-	2	0	TCEAL6	101282637	0.995000	0.38212	0.923000	0.36655	0.939000	0.58152	1.062000	0.30555	0.576000	0.29452	0.468000	0.43344	CGG		0.602	TCEAL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057609.1	NM_001006938		28	98	0	0	0	1	0	28	98					T	101395981	C	T	101395981	3	4	21	1	0	0	0	0	1	0	0	0	15672	652	23	2	232	2	TCEAL6	23	101395981	Missense_Mutation	SNP	C	TCGA-CH-5748-01A-11D-1576-08	31046723	101395981	53874579	52	875											
PLCH2	9651	broad.mit.edu	37	chr1	2411659	2411659	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttgacgaggccgacaagaacGgggatggcagcctgagcatt	11	6	15	9	3	0	3	0	2	0	1	0	6	0	4	2	4	3	2	2	4	2	2	rs370344110		TCGA-CH-5750-01A-11D-1576-08	TCGA-CH-5750-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b169c3-44e0-43e5-9ee3-2df7a678a5ea	69ebe1ab-c416-4473-8d82-91b475b206d4	g.chr1:2411659G>T	ENST00000419816.2	+	4	827	c.553G>T	c.(553-555)Ggg>Tgg	p.G185W	PLCH2_ENST00000378486.3_Missense_Mutation_p.G185W|PLCH2_ENST00000288766.5_Intron|PLCH2_ENST00000449969.1_Missense_Mutation_p.G158W|PLCH2_ENST00000378488.3_Missense_Mutation_p.G185W			O75038	PLCH2_HUMAN	phospholipase C, eta 2	185	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.				inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|phosphatidylinositol metabolic process (GO:0046488)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871)	p.G185W(1)|p.G32W(1)		central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(3)|skin(1)	20	all_cancers(77;0.000161)|all_epithelial(69;5.98e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;7.32e-16)|all_lung(118;1.15e-06)|Lung NSC(185;6.26e-05)|Renal(390;0.00571)|Breast(487;0.00832)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;1.44e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.78e-23)|GBM - Glioblastoma multiforme(42;2.8e-08)|Colorectal(212;4.19e-05)|COAD - Colon adenocarcinoma(227;0.000195)|Kidney(185;0.00034)|BRCA - Breast invasive adenocarcinoma(365;0.00443)|KIRC - Kidney renal clear cell carcinoma(229;0.00548)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.2)		CGACAAGAACGGGGATGGCAG	0.617																																						ENST00000449969.1																			2	Substitution - Missense(2)	p.G185W(1)|p.G32W(1)	prostate(2)	central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(3)|skin(1)	20						c.(472-474)Ggg>Tgg		phospholipase C, eta 2							91	101	98					1																	2411659		2171	4266	6437	SO:0001583	missense	9651				intracellular signal transduction|lipid catabolic process	cytoplasm|plasma membrane	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr1:2411659G>T	AB007919	CCDS59959.1	1p36.32	2013-01-10	2006-03-16	2006-03-16	ENSG00000149527	ENSG00000149527	3.1.4.11	"EF-hand domain containing"	29037	protein-coding gene	gene with protein product		612836	"phospholipase C-like 4"	PLCL4		15899900	Standard	XM_006711054		Approved	KIAA0450, PLCeta2, RP3-395M20.1, PLC-eta2	uc001aji.1	O75038	OTTHUMG00000000719	ENST00000419816.2:c.553G>T	1.37:g.2411659G>T	ENSP00000389803:p.Gly185Trp					PLCH2_ENST00000378483.2_Intron|PLCH2_ENST00000378488.3_Missense_Mutation_p.G185W|PLCH2_ENST00000419816.2_Missense_Mutation_p.G185W|PLCH2_ENST00000378486.3_Missense_Mutation_p.G185W|PLCH2_ENST00000288766.5_Intron	p.G158W			O75038	PLCH2_HUMAN		Epithelial(90;1.44e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.78e-23)|GBM - Glioblastoma multiforme(42;2.8e-08)|Colorectal(212;4.19e-05)|COAD - Colon adenocarcinoma(227;0.000195)|Kidney(185;0.00034)|BRCA - Breast invasive adenocarcinoma(365;0.00443)|KIRC - Kidney renal clear cell carcinoma(229;0.00548)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.2)	4	633	+	all_cancers(77;0.000161)|all_epithelial(69;5.98e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;7.32e-16)|all_lung(118;1.15e-06)|Lung NSC(185;6.26e-05)|Renal(390;0.00571)|Breast(487;0.00832)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)	185					A2VCM3|B9DI80|Q3LUA8|Q86XJ2|Q86XU1|Q86YU7|Q8TEH5|Q8WUS6	Missense_Mutation	SNP	ENST00000419816.2	37	c.472G>T		.	.	.	.	.	.	.	.	.	.	G	14.68	2.607795	0.46527	.	.	ENSG00000149527	ENST00000449969;ENST00000378486;ENST00000378488;ENST00000343889	T;T;T	0.74842	-0.88;-0.88;-0.88	5.01	3.1	0.35709	EF-hand-like domain (1);	0.055410	0.64402	D	0.000001	D	0.88923	0.6569	H	0.95645	3.7	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.89566	0.3810	10	0.87932	D	0	.	10.9998	0.47598	0.0:0.1403:0.7136:0.146	.	185	O75038	PLCH2_HUMAN	W	158;185;185;32	ENSP00000397289:G158W;ENSP00000367747:G185W;ENSP00000367749:G185W	ENSP00000341313:G32W	G	+	1	0	PLCH2	2401519	1.000000	0.71417	0.998000	0.56505	0.638000	0.38207	6.394000	0.73223	0.519000	0.28406	0.561000	0.74099	GGG		0.617	PLCH2-009	KNOWN	non_canonical_conserved|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000467514.1	NM_014638		36	100	1	0	1.49673e-21	0.819951	1.70804e-21	36	100					T	2411659	G	T	2411659	3	4	22	1	0	0	0	0	1	0	0	0	12038	1116	39	5	567	5	PLCH2	1	2411659	Missense_Mutation	SNP	G	TCGA-CH-5750-01A-11D-1576-08		2411659	246838962	1	876											
PKN2	5586	broad.mit.edu	37	chr1	89206847	89206848	+	Frame_Shift_Ins	INS	-	-	A																															tgaggaaagtcacaacagatINSaaaaaaagtttggcttatgt																										TCGA-CH-5750-01A-11D-1576-08	TCGA-CH-5750-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b169c3-44e0-43e5-9ee3-2df7a678a5ea	69ebe1ab-c416-4473-8d82-91b475b206d4	g.chr1:89206847_89206848insA	ENST00000370521.3	+	2	584_585	c.225_226insA	c.(226-228)aaafs	p.K76fs	PKN2_ENST00000370513.5_Frame_Shift_Ins_p.K76fs|PKN2_ENST00000316005.7_Frame_Shift_Ins_p.K76fs|PKN2_ENST00000370505.3_Intron	NM_006256.2	NP_006247.1	Q16513	PKN2_HUMAN	protein kinase N2	76					apical junction assembly (GO:0043297)|apoptotic process (GO:0006915)|cell adhesion (GO:0007155)|cell cycle (GO:0007049)|cell division (GO:0051301)|epithelial cell migration (GO:0010631)|positive regulation of cytokinesis (GO:0032467)|positive regulation of mitotic cell cycle (GO:0045931)|protein phosphorylation (GO:0006468)|regulation of cell motility (GO:2000145)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	apical junction complex (GO:0043296)|centrosome (GO:0005813)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium (GO:0030027)|membrane (GO:0016020)|midbody (GO:0030496)|nucleus (GO:0005634)	ATP binding (GO:0005524)|histone deacetylase binding (GO:0042826)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|endometrium(3)|kidney(3)|large_intestine(8)|lung(15)|prostate(1)|skin(1)	33		Lung NSC(277;0.123)		all cancers(265;0.0136)|Epithelial(280;0.0301)		TCACAACAGATAAAAAAAGTTT	0.307																																						ENST00000370521.3																			0				breast(2)|endometrium(3)|kidney(3)|large_intestine(8)|lung(15)|prostate(1)|skin(1)	33						c.(223-228)gaaaaafs		protein kinase N2																																				SO:0001589	frameshift_variant	5586				signal transduction	cytoplasm	ATP binding|histone deacetylase binding|protein kinase C activity	g.chr1:89206847_89206848insA	U33052	CCDS714.1	1p22	2014-04-23	2004-07-01	2004-07-01	ENSG00000065243	ENSG00000065243			9406	protein-coding gene	gene with protein product	"cardiolipin-activated protein kinase Pak2"	602549	"protein kinase C-like 2"	PRKCL2		7988719, 7851406	Standard	NM_006256		Approved	PRK2, Pak-2, STK7	uc001dmn.3	Q16513	OTTHUMG00000010074	ENST00000370521.3:c.232dupA	1.37:g.89206854_89206854dupA	ENSP00000359552:p.Lys76fs					PKN2_ENST00000316005.7_Frame_Shift_Ins_p.EK75fs|PKN2_ENST00000370513.5_Frame_Shift_Ins_p.EK75fs|PKN2_ENST00000370505.3_Intron	p.EK75fs	NM_006256.2	NP_006247.1	Q16513	PKN2_HUMAN		all cancers(265;0.0136)|Epithelial(280;0.0301)	2	584_585	+		Lung NSC(277;0.123)	75					B4DQ21|B4DTP5|B4DVG1|D3DT24|Q08AF4|Q9H1W4	Frame_Shift_Ins	INS	ENST00000370521.3	37	c.225_226insA	CCDS714.1																																																																																				0.307	PKN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027828.3	NM_006256		40	75						40	75	---	---	---	---	A	89206848	-	A	89206847	7	5	22	1	0	1	1	0	0	0	0	0	11980	1403	49	0	231	0	PKN2	1	89206847	Frame_Shift_Ins	INS	-	TCGA-CH-5750-01A-11D-1576-08	86795188	89206847	160043774	2	877											
VAV3	10451	broad.mit.edu	37	chr1	108247662	108247662	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgtggaaattggagtctgcAtagtctggtcttatgttaga	9	15	12	5	1	3	1	0	0	3	1	4	3	3	3	0	3	1	2	0	3	4	4			TCGA-CH-5750-01A-11D-1576-08	TCGA-CH-5750-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b169c3-44e0-43e5-9ee3-2df7a678a5ea	69ebe1ab-c416-4473-8d82-91b475b206d4	g.chr1:108247662A>G	ENST00000370056.4	-	16	1798	c.1524T>C	c.(1522-1524)taT>taC	p.Y508Y	VAV3_ENST00000527011.1_Silent_p.Y508Y|VAV3_ENST00000371846.4_Silent_p.Y443Y|VAV3_ENST00000343258.4_5'UTR	NM_006113.4	NP_006104.4	Q9UKW4	VAV3_HUMAN	vav 3 guanine nucleotide exchange factor	508					angiogenesis (GO:0001525)|apoptotic signaling pathway (GO:0097190)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|cellular response to DNA damage stimulus (GO:0006974)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|lamellipodium assembly (GO:0030032)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil chemotaxis (GO:0030593)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cell adhesion (GO:0045785)|positive regulation of GTPase activity (GO:0043547)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of signal transduction (GO:0009967)|regulation of Rac GTPase activity (GO:0032314)|regulation of small GTPase mediated signal transduction (GO:0051056)|response to drug (GO:0042493)|small GTPase mediated signal transduction (GO:0007264)|vesicle fusion (GO:0006906)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|SH3/SH2 adaptor activity (GO:0005070)	p.Y508Y(2)|p.Y508*(1)		NS(2)|breast(5)|endometrium(4)|kidney(2)|large_intestine(14)|lung(20)|ovary(6)|prostate(3)|stomach(1)|urinary_tract(1)	58		all_epithelial(167;5.38e-05)|all_lung(203;0.000314)|Lung NSC(277;0.000594)		Colorectal(144;0.0331)|Lung(183;0.128)|Epithelial(280;0.204)		TGGAGTCTGCATAGTCTGGTC	0.403																																						ENST00000370056.4																			3	Substitution - coding silent(2)|Substitution - Nonsense(1)	p.Y508Y(2)|p.Y508*(1)	prostate(2)|lung(1)	NS(2)|breast(5)|endometrium(4)|kidney(2)|large_intestine(14)|lung(20)|ovary(6)|prostate(3)|stomach(1)|urinary_tract(1)	58						c.(1522-1524)taT>taC		vav 3 guanine nucleotide exchange factor							100	88	92					1																	108247662		2203	4300	6503	SO:0001819	synonymous_variant	10451				angiogenesis|apoptosis|B cell receptor signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of B cell proliferation|regulation of Rho protein signal transduction|response to DNA damage stimulus|response to drug|small GTPase mediated signal transduction	cytosol	GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity	g.chr1:108247662A>G	AF118886	CCDS785.1, CCDS44181.1	1p13.3	2013-02-14	2007-07-25		ENSG00000134215	ENSG00000134215		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing", "SH2 domain containing"	12659	protein-coding gene	gene with protein product		605541	"vav 3 oncogene"				Standard	NM_001079874		Approved		uc001dvk.1	Q9UKW4	OTTHUMG00000010995	ENST00000370056.4:c.1524T>C	1.37:g.108247662A>G						VAV3_ENST00000371846.4_Silent_p.Y443Y|VAV3_ENST00000343258.4_5'UTR|VAV3_ENST00000527011.1_Silent_p.Y508Y	p.Y508Y	NM_006113.4	NP_006104.4	Q9UKW4	VAV3_HUMAN		Colorectal(144;0.0331)|Lung(183;0.128)|Epithelial(280;0.204)	16	1798	-		all_epithelial(167;5.38e-05)|all_lung(203;0.000314)|Lung NSC(277;0.000594)	508					B1AMM0|B1APV5|B4E232|B7ZLR1|E9PQ97|O60498|O95230|Q9Y5X8	Silent	SNP	ENST00000370056.4	37	c.1524T>C	CCDS785.1	.	.	.	.	.	.	.	.	.	.	A	9.297	1.052008	0.19827	.	.	ENSG00000134215	ENST00000529809;ENST00000490388	.	.	.	6.16	-3.72	0.04411	.	.	.	.	.	T	0.48259	0.1490	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.56432	-0.7980	4	.	.	.	.	12.9536	0.58415	0.5862:0.0:0.4138:0.0	.	.	.	.	T	60;503	.	.	M	-	2	0	VAV3	108049185	0.346000	0.24844	0.628000	0.29241	0.992000	0.81027	-0.180000	0.09754	-0.976000	0.03542	-0.274000	0.10170	ATG		0.403	VAV3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030242.2	NM_006113		3	133	0	0	0	0.115264	0	3	133					G	108247662	A	G	108247662	2	3	22	1	0	0	0	0	0	0	0	1	17130	224	8	4		4	VAV3	1	108247662	Silent	SNP	A	TCGA-CH-5750-01A-11D-1576-08	19040815	108247662	141002959	3	878											
OR6N2	81442	broad.mit.edu	37	chr1	158746645	158746645	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggaatagctcttctttagccGcacatacatgaagatgatgc	12	11	9	9	1	2	3	0	2	2	1	2	4	2	4	1	1	4	2	1	1	5	5			TCGA-CH-5750-01A-11D-1576-08	TCGA-CH-5750-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b169c3-44e0-43e5-9ee3-2df7a678a5ea	69ebe1ab-c416-4473-8d82-91b475b206d4	g.chr1:158746645G>A	ENST00000339258.1	-	1	780	c.781C>T	c.(781-783)Cgg>Tgg	p.R261W		NM_001005278.1	NP_001005278.1	Q8NGY6	OR6N2_HUMAN	olfactory receptor, family 6, subfamily N, member 2	261						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|large_intestine(6)|lung(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_hematologic(112;0.0378)					TTCTTTAGCCGCACATACATG	0.433																																						ENST00000339258.1																			0				endometrium(3)|large_intestine(6)|lung(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						c.(781-783)Cgg>Tgg		olfactory receptor, family 6, subfamily N, member 2							102	97	98					1																	158746645		2203	4300	6503	SO:0001583	missense	81442				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158746645G>A	BK004200	CCDS30906.1	1q23.1	2012-08-09			ENSG00000188340	ENSG00000188340		"GPCR / Class A : Olfactory receptors"	15035	protein-coding gene	gene with protein product							Standard	NM_001005278		Approved		uc010pir.2	Q8NGY6	OTTHUMG00000022775	ENST00000339258.1:c.781C>T	1.37:g.158746645G>A	ENSP00000344101:p.Arg261Trp						p.R261W	NM_001005278.1	NP_001005278.1	Q8NGY6	OR6N2_HUMAN			1	780	-	all_hematologic(112;0.0378)		261					Q6IFR2	Missense_Mutation	SNP	ENST00000339258.1	37	c.781C>T	CCDS30906.1	.	.	.	.	.	.	.	.	.	.	G	12.05	1.822416	0.32237	.	.	ENSG00000188340	ENST00000339258	T	0.37915	1.17	4.94	-2.19	0.07015	GPCR, rhodopsin-like superfamily (1);	0.000000	0.33732	N	0.004604	T	0.44644	0.1303	M	0.72118	2.19	0.20307	N	0.999916	D	0.89917	1.0	D	0.91635	0.999	T	0.58967	-0.7542	10	0.66056	D	0.02	-8.2257	18.501	0.90880	0.0:0.0:0.1769:0.8231	.	261	Q8NGY6	OR6N2_HUMAN	W	261	ENSP00000344101:R261W	ENSP00000344101:R261W	R	-	1	2	OR6N2	157013269	0.000000	0.05858	0.168000	0.22838	0.539000	0.34962	-0.709000	0.05030	-0.609000	0.05724	-0.836000	0.03065	CGG		0.433	OR6N2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059068.1			4	156	0	0	0	0.150653	0	4	156					A	158746645	G	A	158746645	3	1	22	1	0	0	0	0	1	0	0	0	11207	1086	38	1	175	1	OR6N2	1	158746645	Missense_Mutation	SNP	G	TCGA-CH-5750-01A-11D-1576-08	50498983	158746645	90503976	4	879											
MSH6	2956	broad.mit.edu	37	chr2	48026269	48026269	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaagagaagagatgagcacAggaggaggcctgatcacccc	16	3	13	9	0	1	4	1	2	0	2	1	8	1	6	3	3	1	1	3	3	3	0	rs267608043		TCGA-CH-5750-01A-11D-1576-08	TCGA-CH-5750-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b169c3-44e0-43e5-9ee3-2df7a678a5ea	69ebe1ab-c416-4473-8d82-91b475b206d4	g.chr2:48026269A>G	ENST00000234420.5	+	4	1299	c.1147A>G	c.(1147-1149)Agg>Ggg	p.R383G	FBXO11_ENST00000405808.1_Intron|MSH6_ENST00000538136.1_Missense_Mutation_p.R81G|MSH6_ENST00000540021.1_Missense_Mutation_p.R253G	NM_000179.2	NP_000170.1	P52701	MSH6_HUMAN	mutS homolog 6	383					ATP catabolic process (GO:0006200)|determination of adult lifespan (GO:0008340)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|isotype switching (GO:0045190)|meiotic mismatch repair (GO:0000710)|mismatch repair (GO:0006298)|negative regulation of DNA recombination (GO:0045910)|positive regulation of helicase activity (GO:0051096)|reciprocal meiotic recombination (GO:0007131)|response to UV (GO:0009411)|somatic hypermutation of immunoglobulin genes (GO:0016446)|somatic recombination of immunoglobulin gene segments (GO:0016447)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|MutSalpha complex (GO:0032301)|nuclear chromatin (GO:0000790)|nuclear chromosome (GO:0000228)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|damaged DNA binding (GO:0003684)|DNA-dependent ATPase activity (GO:0008094)|guanine/thymine mispair binding (GO:0032137)|methylated histone binding (GO:0035064)|mismatched DNA binding (GO:0030983)	p.R383G(2)|p.0?(2)		breast(8)|central_nervous_system(29)|cervix(1)|endometrium(32)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(75)|lung(25)|ovary(3)|prostate(3)|skin(10)|stomach(22)|thyroid(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	229		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			AGATGAGCACAGGAGGAGGCC	0.478			"Mis, N, F, S"		colorectal	"colorectal, endometrial, ovarian"		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome																													ENST00000234420.4			yes	Rec	yes	Hereditary non-polyposis colorectal cancer	2	2p16	2956	"Mis, N, F, S"	mutS homolog 6 (E. coli)			E		"colorectal, endometrial, ovarian"	colorectal		4	Substitution - Missense(2)|Whole gene deletion(2)	p.R383G(2)|p.0?(2)	haematopoietic_and_lymphoid_tissue(2)|prostate(2)	breast(8)|central_nervous_system(29)|cervix(1)|endometrium(32)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(75)|lung(25)|ovary(3)|prostate(3)|skin(10)|stomach(22)|thyroid(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	229						c.(1147-1149)Agg>Ggg	Mismatch excision repair (MMR)	mutS homolog 6							114	113	113					2																	48026269		2203	4300	6503	SO:0001583	missense	2956	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome; ;Hereditary Non-Polyposis Colorectal Cancer, HNPCC, Lynch syndromes 1 and 2 (= Cancer Family Syndrome), Hereditary Mismatch Repair Deficiency syndrome, HMRDS;Mismatch Repair Cancer syndrome, MMRCS, Childhood Cancer Syndrome, CCS, Biallelic Mismatch Repair Gene Mutations Associated Early Onset Cancer, Lynch syndrome type III	determination of adult lifespan|DNA damage response, signal transduction resulting in induction of apoptosis|isotype switching|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|response to UV|somatic hypermutation of immunoglobulin genes	MutSalpha complex	ATP binding|DNA-dependent ATPase activity|protein binding	g.chr2:48026269A>G	U54777	CCDS1836.1, CCDS62906.1, CCDS62907.1	2p16	2014-09-17	2013-09-12		ENSG00000116062	ENSG00000116062			7329	protein-coding gene	gene with protein product		600678	"mutS (E. coli) homolog 6", "mutS homolog 6 (E. coli)"	GTBP		7604266	Standard	NM_000179		Approved		uc002rwd.4	P52701	OTTHUMG00000129129	ENST00000234420.5:c.1147A>G	2.37:g.48026269A>G	ENSP00000234420:p.Arg383Gly					MSH6_ENST00000540021.1_Missense_Mutation_p.R253G|MSH6_ENST00000538136.1_Missense_Mutation_p.R81G|FBXO11_ENST00000405808.1_Intron	p.R383G	NM_000179.2	NP_000170.1	P52701	MSH6_HUMAN	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		4	1299	+		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	383					B4DF41|B4E3I4|F5H2F9|O43706|O43917|Q8TCX4|Q9BTB5	Missense_Mutation	SNP	ENST00000234420.5	37	c.1147A>G	CCDS1836.1	.	.	.	.	.	.	.	.	.	.	A	10.53	1.376248	0.24857	.	.	ENSG00000116062	ENST00000234420;ENST00000544857;ENST00000540021;ENST00000538136	D;D;D	0.86432	-1.8;-1.86;-2.12	4.26	3.08	0.35506	.	0.000000	0.85682	D	0.000000	T	0.74007	0.3660	N	0.11724	0.165	0.80722	D	1	B;B;B	0.23058	0.004;0.004;0.079	B;B;B	0.24006	0.017;0.017;0.05	T	0.64407	-0.6415	10	0.27785	T	0.31	-18.3018	10.0175	0.42022	0.6722:0.3278:0.0:0.0	.	253;383;383	B4DF41;P52701;P52701-2	.;MSH6_HUMAN;.	G	383;381;253;81	ENSP00000234420:R383G;ENSP00000446475:R253G;ENSP00000438580:R81G	ENSP00000234420:R383G	R	+	1	2	MSH6	47879773	0.869000	0.29996	0.951000	0.38953	0.986000	0.74619	1.820000	0.39032	0.674000	0.31244	-0.313000	0.08912	AGG		0.478	MSH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251180.4	NM_000179		47	110	0	0	0	0.864702	0	47	110					G	48026269	A	G	48026269	3	3	22	1	0	0	0	0	1	0	0	0	9874	179	7	4	1161	4	MSH6	2	48026269	Missense_Mutation	SNP	A	TCGA-CH-5750-01A-11D-1576-08		48026269	195173104	5	880											
REG1A	5967	broad.mit.edu	37	chr2	79349167	79349167	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgtctgtgctcacccaggcCgagggtgcctttgtggcctc	3	11	14	13	1	2	0	1	0	1	0	3	1	2	0	4	3	2	1	4	3	0	1			TCGA-CH-5750-01A-11D-1576-08	TCGA-CH-5750-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b169c3-44e0-43e5-9ee3-2df7a678a5ea	69ebe1ab-c416-4473-8d82-91b475b206d4	g.chr2:79349167C>T	ENST00000233735.1	+	4	340	c.237C>T	c.(235-237)gcC>gcT	p.A79A		NM_002909.4	NP_002900.2	P05451	REG1A_HUMAN	regenerating islet-derived 1 alpha	79	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				positive regulation of cell proliferation (GO:0008284)	extracellular vesicular exosome (GO:0070062)	carbohydrate binding (GO:0030246)|growth factor activity (GO:0008083)	p.A79A(1)		NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(26)|prostate(1)|upper_aerodigestive_tract(1)	39						TCACCCAGGCCGAGGGTGCCT	0.527																																						ENST00000233735.1																			1	Substitution - coding silent(1)	p.A79A(1)	prostate(1)	NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(26)|prostate(1)|upper_aerodigestive_tract(1)	39						c.(235-237)gcC>gcT		regenerating islet-derived 1 alpha							138	126	130					2																	79349167		2203	4300	6503	SO:0001819	synonymous_variant	5967				positive regulation of cell proliferation	extracellular region	growth factor activity|sugar binding	g.chr2:79349167C>T		CCDS1964.1	2p12	2008-09-04	2008-06-04		ENSG00000115386	ENSG00000115386			9951	protein-coding gene	gene with protein product	"pancreatic stone protein", "pancreatic thread protein"	167770	"regenerating islet-derived 1 alpha (pancreatic stone protein, pancreatic thread protein)"	REG		2332435, 8333731	Standard	NM_002909		Approved	PSP, PTP, PSPS, PSPS1	uc002snz.3	P05451	OTTHUMG00000130016	ENST00000233735.1:c.237C>T	2.37:g.79349167C>T							p.A79A	NM_002909.4	NP_002900.2	P05451	REG1A_HUMAN			4	340	+			79			C-type lectin.		P11379|Q4ZG28	Silent	SNP	ENST00000233735.1	37	c.237C>T	CCDS1964.1																																																																																				0.527	REG1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252289.1	NM_002909		73	115	0	0	0	0.870114	0	73	115					T	79349167	C	T	79349167	2	4	22	1	0	0	0	0	0	0	0	1	13210	639	23	2		2	REG1A	2	79349167	Silent	SNP	C	TCGA-CH-5750-01A-11D-1576-08	31322898	79349167	163850206	6	881											
PROM2	150696	broad.mit.edu	37	chr2	95944760	95944760	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaggcagtggcccagcagcCggaaggggtgaggacactgg	10	3	19	9	1	0	1	0	1	0	0	0	4	0	3	2	7	2	2	2	7	2	0	rs189781710		TCGA-CH-5750-01A-11D-1576-08	TCGA-CH-5750-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b169c3-44e0-43e5-9ee3-2df7a678a5ea	69ebe1ab-c416-4473-8d82-91b475b206d4	g.chr2:95944760C>A	ENST00000317620.9	+	10	1275	c.1142C>A	c.(1141-1143)cCg>cAg	p.P381Q	PROM2_ENST00000317668.4_Missense_Mutation_p.P381Q|PROM2_ENST00000542147.1_Missense_Mutation_p.P381Q|PROM2_ENST00000403131.2_Missense_Mutation_p.P381Q	NM_001165978.1	NP_001159450.1	Q8N271	PROM2_HUMAN	prominin 2	381					negative regulation of caveolin-mediated endocytosis (GO:2001287)|negative regulation of pinocytosis (GO:0048550)|positive regulation of cell projection organization (GO:0031346)|positive regulation of protein phosphorylation (GO:0001934)|regulation of Cdc42 GTPase activity (GO:0043088)	cell projection (GO:0042995)|cell surface (GO:0009986)|cilium (GO:0005929)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|microspike (GO:0044393)|microvillus (GO:0005902)|prominosome (GO:0071914)	cholesterol binding (GO:0015485)	p.P381Q(1)		breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	32						GCCCAGCAGCCGGAAGGGGTG	0.662																																						ENST00000317620.9																			1	Substitution - Missense(1)	p.P381Q(1)	prostate(1)	breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	32						c.(1141-1143)cCg>cAg		prominin 2							37	41	39					2																	95944760		2203	4300	6503	SO:0001583	missense	150696					apical plasma membrane|basolateral plasma membrane|cilium membrane|integral to membrane|microvillus membrane		g.chr2:95944760C>A	AF245303	CCDS2012.1	2q11.1	2008-02-05			ENSG00000155066	ENSG00000155066			20685	protein-coding gene	gene with protein product						12514187	Standard	NM_001165978		Approved		uc002sui.3	Q8N271	OTTHUMG00000130393	ENST00000317620.9:c.1142C>A	2.37:g.95944760C>A	ENSP00000318270:p.Pro381Gln					PROM2_ENST00000403131.2_Missense_Mutation_p.P381Q|PROM2_ENST00000317668.4_Missense_Mutation_p.P381Q|PROM2_ENST00000542147.1_Missense_Mutation_p.P381Q	p.P381Q	NM_001165978.1	NP_001159450.1	Q8N271	PROM2_HUMAN			10	1275	+			381					A8K2V1|Q2HIX6|Q8NB84|Q8TAE2	Missense_Mutation	SNP	ENST00000317620.9	37	c.1142C>A	CCDS2012.1	.	.	.	.	.	.	.	.	.	.	C	14.66	2.602306	0.46423	.	.	ENSG00000155066	ENST00000403131;ENST00000317668;ENST00000317620;ENST00000542147	T;T;T;T	0.41065	1.01;1.01;1.01;1.01	4.94	4.94	0.65067	.	0.412269	0.23504	N	0.047466	T	0.53786	0.1818	M	0.75447	2.3	0.34931	D	0.749399	D	0.56287	0.975	P	0.54590	0.756	T	0.60146	-0.7320	10	0.13108	T	0.6	-12.6349	14.0365	0.64649	0.0:1.0:0.0:0.0	.	381	Q8N271	PROM2_HUMAN	Q	381	ENSP00000385716:P381Q;ENSP00000318520:P381Q;ENSP00000318270:P381Q;ENSP00000442542:P381Q	ENSP00000318270:P381Q	P	+	2	0	PROM2	95308487	0.005000	0.15991	0.790000	0.31976	0.180000	0.23129	1.960000	0.40422	2.446000	0.82766	0.609000	0.83330	CCG		0.662	PROM2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252771.1	NM_144707		3	99	1	0	0.115264	0.115264	0.121528	3	99					A	95944760	C	A	95944760	3	1	22	1	0	0	0	0	1	0	0	0	12556	652	23	5	1180	5	PROM2	2	95944760	Missense_Mutation	SNP	C	TCGA-CH-5750-01A-11D-1576-08	16595593	95944760	147254613	7	882											
CNTNAP5	129684	broad.mit.edu	37	chr2	125521571	125521571	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggacgcttctggaacgccGtctcattttatacagaagcc	10	10	9	12	3	2	1	1	0	2	1	3	3	2	3	2	2	3	1	2	2	4	4			TCGA-CH-5750-01A-11D-1576-08	TCGA-CH-5750-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b169c3-44e0-43e5-9ee3-2df7a678a5ea	69ebe1ab-c416-4473-8d82-91b475b206d4	g.chr2:125521571G>A	ENST00000431078.1	+	16	2741	c.2377G>A	c.(2377-2379)Gtc>Atc	p.V793I		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	793	Laminin G-like 3. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)		p.V793I(2)		NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		CTGGAACGCCGTCTCATTTTA	0.428																																						ENST00000431078.1																			2	Substitution - Missense(2)	p.V793I(2)	prostate(2)	NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176						c.(2377-2379)Gtc>Atc		contactin associated protein-like 5							128	121	123					2																	125521571		1867	4092	5959	SO:0001583	missense	129684				cell adhesion|signal transduction	integral to membrane	receptor binding	g.chr2:125521571G>A	AB077881	CCDS46401.1	2q14.1	2008-02-05			ENSG00000155052	ENSG00000155052			18748	protein-coding gene	gene with protein product		610519					Standard	NM_130773		Approved	caspr5, FLJ31966	uc002tno.3	Q8WYK1	OTTHUMG00000153356	ENST00000431078.1:c.2377G>A	2.37:g.125521571G>A	ENSP00000399013:p.Val793Ile						p.V793I	NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.248)	16	2741	+			793			Laminin G-like 3.		Q4ZFW2|Q4ZG21|Q53R09|Q53RX1|Q53SG3|Q584P3|Q96MS7	Missense_Mutation	SNP	ENST00000431078.1	37	c.2377G>A	CCDS46401.1	.	.	.	.	.	.	.	.	.	.	G	18.61	3.660591	0.67586	.	.	ENSG00000155052	ENST00000431078	T	0.49139	0.79	5.9	4.99	0.66335	Concanavalin A-like lectin/glucanase (1);Laminin G domain (1);	0.142139	0.31601	N	0.007361	T	0.30510	0.0767	L	0.28556	0.865	0.36018	D	0.83852	P	0.43633	0.813	B	0.25405	0.06	T	0.45086	-0.9285	10	0.37606	T	0.19	.	16.2139	0.82191	0.0:0.1324:0.8676:0.0	.	793	Q8WYK1	CNTP5_HUMAN	I	793	ENSP00000399013:V793I	ENSP00000399013:V793I	V	+	1	0	CNTNAP5	125238041	1.000000	0.71417	0.976000	0.42696	0.983000	0.72400	7.857000	0.86963	2.804000	0.96469	0.655000	0.94253	GTC		0.428	CNTNAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330864.3			69	118	0	0	0	0.870114	0	69	118					A	125521571	G	A	125521571	3	1	22	1	0	0	0	0	1	0	0	0	3650	1145	40	1	2439	1	CNTNAP5	2	125521571	Missense_Mutation	SNP	G	TCGA-CH-5750-01A-11D-1576-08	29576811	125521571	117677802	8	883											
SSB	6741	broad.mit.edu	37	chr2	170663358	170663358	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggttagaagataaaggtcaaGtactaaatattcagatgaga	18	10	10	3	0	2	4	2	1	0	4	2	5	2	4	0	2	1	2	0	2	9	6			TCGA-CH-5750-01A-11D-1576-08	TCGA-CH-5750-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b169c3-44e0-43e5-9ee3-2df7a678a5ea	69ebe1ab-c416-4473-8d82-91b475b206d4	g.chr2:170663358G>T	ENST00000409333.1	+	5	656	c.409G>T	c.(409-411)Gta>Tta	p.V137L	SSB_ENST00000260956.4_Missense_Mutation_p.V137L			P05455	LA_HUMAN	Sjogren syndrome antigen B (autoantigen La)	137	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.				histone mRNA metabolic process (GO:0008334)|tRNA modification (GO:0006400)	nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|tRNA binding (GO:0000049)	p.V137L(1)		endometrium(3)|large_intestine(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						TAAAGGTCAAGTACTAAATAT	0.299																																						ENST00000409333.1																			1	Substitution - Missense(1)	p.V137L(1)	prostate(1)	endometrium(3)|large_intestine(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						c.(409-411)Gta>Tta		Sjogren syndrome antigen B (autoantigen La)							86	88	88					2																	170663358		2203	4298	6501	SO:0001583	missense	6741				histone mRNA metabolic process|tRNA modification	nucleus|ribonucleoprotein complex	mRNA binding|nucleotide binding|protein binding|tRNA binding	g.chr2:170663358G>T		CCDS2237.1	2q31.1	2014-02-14		2005-06-16	ENSG00000138385	ENSG00000138385		"La ribonucleoprotein domain containing", "RNA binding motif (RRM) containing"	11316	protein-coding gene	gene with protein product	"La ribonucleoprotein domain family, member 3"	109090					Standard	NM_003142		Approved	LARP3, La, La/SSB	uc002ufk.3	P05455	OTTHUMG00000132212	ENST00000409333.1:c.409G>T	2.37:g.170663358G>T	ENSP00000386636:p.Val137Leu					SSB_ENST00000260956.4_Missense_Mutation_p.V137L	p.V137L			P05455	LA_HUMAN			5	656	+			137			RRM.		Q15367|Q53XJ4	Missense_Mutation	SNP	ENST00000409333.1	37	c.409G>T	CCDS2237.1	.	.	.	.	.	.	.	.	.	.	G	14.60	2.582934	0.46006	.	.	ENSG00000138385	ENST00000422006;ENST00000260956;ENST00000409005;ENST00000417292;ENST00000409333	T;T;T;T	0.20598	2.06;2.06;2.06;2.06	5.43	3.61	0.41365	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.329577	0.33753	N	0.004583	T	0.22627	0.0546	L	0.60455	1.87	0.43777	D	0.996302	B;B	0.21309	0.027;0.054	B;B	0.28638	0.052;0.092	T	0.04333	-1.0959	10	0.66056	D	0.02	-13.7897	8.6743	0.34170	0.2337:0.0:0.7663:0.0	.	137;137	E9PFH8;P05455	.;LA_HUMAN	L	137;137;137;86;137	ENSP00000397029:V137L;ENSP00000260956:V137L;ENSP00000396890:V86L;ENSP00000386636:V137L	ENSP00000260956:V137L	V	+	1	0	SSB	170371604	0.825000	0.29262	1.000000	0.80357	0.995000	0.86356	1.070000	0.30653	0.758000	0.33059	0.467000	0.42956	GTA		0.299	SSB-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333316.1	NM_003142		5	165	1	0	0.000602214	0.184627	0.000649053	5	165					T	170663358	G	T	170663358	3	4	22	1	0	0	0	0	1	0	0	0	15177	1029	36	5	423	5	SSB	2	170663358	Missense_Mutation	SNP	G	TCGA-CH-5750-01A-11D-1576-08	45141787	170663358	72536015	9	884											
TTN	7273	broad.mit.edu	37	chr2	179472383	179472383	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatttgtattccacccttgaCagaaacatccagttccacag	12	12	5	12	0	0	2	0	1	0	1	3	2	3	2	4	0	1	2	4	0	3	6			TCGA-CH-5750-01A-11D-1576-08	TCGA-CH-5750-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b169c3-44e0-43e5-9ee3-2df7a678a5ea	69ebe1ab-c416-4473-8d82-91b475b206d4	g.chr2:179472383C>T	ENST00000591111.1	-	227	48333	c.48109G>A	c.(48109-48111)Gtc>Atc	p.V16037I	TTN_ENST00000342175.6_Missense_Mutation_p.V8805I|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.V8613I|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.V8738I|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.V17678I|TTN_ENST00000342992.6_Missense_Mutation_p.V15110I|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589234.1_RNA			Q8WZ42	TITIN_HUMAN	titin	16037	Ig-like 99.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.V8613I(2)|p.V15110I(2)|p.V8738I(1)|p.V8805I(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CCACCCTTGACAGAAACATCC	0.428																																						ENST00000589042.1																			6	Substitution - Missense(6)	p.V8613I(2)|p.V15110I(2)|p.V8738I(1)|p.V8805I(1)	prostate(6)	NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(53032-53034)Gtc>Atc		titin							101	99	100					2																	179472383		1857	4091	5948	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179472383C>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.48109G>A	2.37:g.179472383C>T	ENSP00000465570:p.Val16037Ile					TTN_ENST00000342175.6_Missense_Mutation_p.V8805I|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.V15110I|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.V8738I|TTN_ENST00000591111.1_Missense_Mutation_p.V16037I|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.V8613I|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000590807.1_RNA	p.V17678I	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		277	53256	-			16037			Fibronectin type-III 28.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.53032G>A		.	.	.	.	.	.	.	.	.	.	C	15.27	2.785160	0.49997	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.62788	-0.0;0.19;0.19;0.18	6.17	6.17	0.99709	Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.66297	0.2775	N	0.05414	-0.055	0.58432	D	0.999999	D;D;D;D	0.69078	0.997;0.997;0.997;0.997	D;D;D;D	0.80764	0.994;0.994;0.994;0.994	T	0.73180	-0.4064	9	0.87932	D	0	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	8613;8738;8805;16037	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	I	15110;8613;8805;8738;8613	ENSP00000343764:V15110I;ENSP00000434586:V8613I;ENSP00000340554:V8805I;ENSP00000352154:V8738I	ENSP00000340554:V8805I	V	-	1	0	TTN	179180628	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	4.635000	0.61332	2.941000	0.99782	0.655000	0.94253	GTC		0.428	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		79	116	0	0	0	0.870114	0	79	116					T	179472383	C	T	179472383	3	4	22	1	0	0	0	0	1	0	0	0	16732	478	17	3	55005	3	TTN	2	179472383	Missense_Mutation	SNP	C	TCGA-CH-5750-01A-11D-1576-08	8809025	179472383	63726990	10	885											
ZDBF2	57683	broad.mit.edu	37	chr2	207170939	207170939	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctgtcacagaaacaaaacttCggaagaaggctcataccagc	16	6	8	11	1	2	2	2	0	0	2	3	3	2	3	1	2	4	1	1	2	6	2			TCGA-CH-5750-01A-11D-1576-08	TCGA-CH-5750-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b169c3-44e0-43e5-9ee3-2df7a678a5ea	69ebe1ab-c416-4473-8d82-91b475b206d4	g.chr2:207170939C>T	ENST00000374423.3	+	5	2073	c.1687C>T	c.(1687-1689)Cgg>Tgg	p.R563W		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	563							nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)	p.R563W(2)		endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						AACAAAACTTCGGAAGAAGGC	0.438																																						ENST00000374423.3																			2	Substitution - Missense(2)	p.R563W(2)	prostate(2)	endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						c.(1687-1689)Cgg>Tgg		zinc finger, DBF-type containing 2							93	86	88					2																	207170939		1869	4110	5979	SO:0001583	missense	57683						nucleic acid binding|zinc ion binding	g.chr2:207170939C>T	AB046791	CCDS46501.1, CCDS74637.1	2q33.3	2013-01-10			ENSG00000204186	ENSG00000204186		"Zinc fingers, DBF-type"	29313	protein-coding gene	gene with protein product						10997877	Standard	XM_005246711		Approved	FLJ45338, KIAA1571	uc002vbp.2	Q9HCK1	OTTHUMG00000154648	ENST00000374423.3:c.1687C>T	2.37:g.207170939C>T	ENSP00000363545:p.Arg563Trp						p.R563W	NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN			5	2073	+			563					Q6ZNP7|Q6ZSN8	Missense_Mutation	SNP	ENST00000374423.3	37	c.1687C>T	CCDS46501.1	.	.	.	.	.	.	.	.	.	.	C	12.66	2.004503	0.35320	.	.	ENSG00000204186	ENST00000374423	T	0.45668	0.89	4.02	-3.77	0.04346	.	1.684400	0.03907	N	0.281273	T	0.29223	0.0727	L	0.34521	1.04	0.09310	N	1	B	0.14012	0.009	B	0.04013	0.001	T	0.17899	-1.0354	10	0.38643	T	0.18	.	5.6932	0.17841	0.0:0.3167:0.4149:0.2684	.	563	Q9HCK1	ZDBF2_HUMAN	W	563	ENSP00000363545:R563W	ENSP00000363545:R563W	R	+	1	2	ZDBF2	206879184	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-1.887000	0.01617	-0.824000	0.04295	-0.181000	0.13052	CGG		0.438	ZDBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336458.1	NM_020923		27	47	0	0	0	0.693898	0	27	47					T	207170939	C	T	207170939	3	4	22	1	0	0	0	0	1	0	0	0	17596	875	31	2	1697	2	ZDBF2	2	207170939	Missense_Mutation	SNP	C	TCGA-CH-5750-01A-11D-1576-08	27698556	207170939	36028434	11	886											
SPHKAP	80309	broad.mit.edu	37	chr2	228858269	228858269	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cttaatcatgggagaagatgGcatgctttcctgataaatgt	12	13	10	6	0	1	3	1	1	0	2	2	4	2	3	1	2	1	2	1	2	4	3			TCGA-CH-5750-01A-11D-1576-08	TCGA-CH-5750-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b169c3-44e0-43e5-9ee3-2df7a678a5ea	69ebe1ab-c416-4473-8d82-91b475b206d4	g.chr2:228858269G>A	ENST00000392056.3	-	9	4748	c.4702C>T	c.(4702-4704)Cca>Tca	p.P1568S	SPHKAP_ENST00000344657.5_Intron	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	1568						extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|Z disc (GO:0030018)	protein kinase A binding (GO:0051018)	p.P1568S(1)		NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		GGAGAAGATGGCATGCTTTCC	0.423																																						ENST00000392056.3																			1	Substitution - Missense(1)	p.P1568S(1)	prostate(1)	NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185						c.(4702-4704)Cca>Tca		SPHK1 interactor, AKAP domain containing							112	87	95					2																	228858269		1568	3582	5150	SO:0001583	missense	80309					cytoplasm	protein binding	g.chr2:228858269G>A		CCDS33389.1, CCDS46537.1	2q36.3	2010-08-20			ENSG00000153820	ENSG00000153820		"A-kinase anchor proteins"	30619	protein-coding gene	gene with protein product	"sphingosine kinase type 1-interacting protein"	611646				12080051, 11214970	Standard	NM_030623		Approved	SKIP	uc002vpq.2	Q2M3C7	OTTHUMG00000153584	ENST00000392056.3:c.4702C>T	2.37:g.228858269G>A	ENSP00000375909:p.Pro1568Ser					SPHKAP_ENST00000344657.5_Intron	p.P1568S	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)	9	4748	-		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)	1568					Q68DA3|Q68DR8|Q9C0I5	Missense_Mutation	SNP	ENST00000392056.3	37	c.4702C>T	CCDS46537.1	.	.	.	.	.	.	.	.	.	.	G	11.76	1.733543	0.30684	.	.	ENSG00000153820	ENST00000392056	T	0.10005	2.92	6.06	5.13	0.70059	.	0.136092	0.28815	U	0.014046	T	0.17280	0.0415	L	0.31294	0.92	0.80722	D	1	D	0.89917	1.0	D	0.72075	0.976	T	0.01697	-1.1293	10	0.05959	T	0.93	.	14.3161	0.66452	0.0:0.1478:0.8522:0.0	.	1568	Q2M3C7	SPKAP_HUMAN	S	1568	ENSP00000375909:P1568S	ENSP00000375909:P1568S	P	-	1	0	SPHKAP	228566513	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.736000	0.38187	2.882000	0.98803	0.655000	0.94253	CCA		0.423	SPHKAP-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331750.1	NM_030623		6	14	0	0	0	0.27861	0	6	14					A	228858269	G	A	228858269	3	1	22	1	0	0	0	0	1	0	0	0	15047	1203	42	3	416	3	SPHKAP	2	228858269	Missense_Mutation	SNP	G	TCGA-CH-5750-01A-11D-1576-08	21687330	228858269	14341104	12	887											
BRPF1	7862	broad.mit.edu	37	chr3	9788936	9788936	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gctggagggccgcaagtccaAcatccgcaagtcagtacaga	12	5	12	12	2	1	1	1	0	0	1	3	2	3	2	3	2	2	4	3	2	4	1			TCGA-CH-5750-01A-11D-1576-08	TCGA-CH-5750-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b169c3-44e0-43e5-9ee3-2df7a678a5ea	69ebe1ab-c416-4473-8d82-91b475b206d4	g.chr3:9788936A>G	ENST00000457855.1	+	13	3559	c.3548A>G	c.(3547-3549)aAc>aGc	p.N1183S	OGG1_ENST00000302008.8_5'Flank|OGG1_ENST00000349503.5_5'Flank|OGG1_ENST00000449570.2_5'Flank|OGG1_ENST00000339511.5_5'Flank|OGG1_ENST00000302003.7_5'Flank|OGG1_ENST00000383826.5_5'Flank|OGG1_ENST00000302036.7_5'Flank|OGG1_ENST00000344629.7_5'Flank|BRPF1_ENST00000433861.2_Missense_Mutation_p.N1088S|BRPF1_ENST00000383829.2_Missense_Mutation_p.N1189S|BRPF1_ENST00000302054.3_Missense_Mutation_p.N1183S|BRPF1_ENST00000424362.1_Missense_Mutation_p.N1182S			P55201	BRPF1_HUMAN	bromodomain and PHD finger containing, 1	1183					chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.N1189S(1)		central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	49	Medulloblastoma(99;0.227)					CGCAAGTCCAACATCCGCAAG	0.567																																						ENST00000383829.2																			1	Substitution - Missense(1)	p.N1189S(1)	prostate(1)	central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	49						c.(3565-3567)aAc>aGc		bromodomain and PHD finger containing, 1							137	118	124					3																	9788936		2203	4300	6503	SO:0001583	missense	7862				histone H3 acetylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|MOZ/MORF histone acetyltransferase complex|plasma membrane	DNA binding|zinc ion binding	g.chr3:9788936A>G	M91585	CCDS2575.1, CCDS33692.1	3p26-p25	2008-07-18			ENSG00000156983	ENSG00000156983			14255	protein-coding gene	gene with protein product	"peregrin", "bromodomain-containing protein, 140kD"	602410				8946209, 7906940	Standard	NM_001003694		Approved	BR140	uc003bsf.3	P55201	OTTHUMG00000097033	ENST00000457855.1:c.3548A>G	3.37:g.9788936A>G	ENSP00000410210:p.Asn1183Ser					BRPF1_ENST00000457855.1_Missense_Mutation_p.N1183S|BRPF1_ENST00000302054.3_Missense_Mutation_p.N1183S|BRPF1_ENST00000424362.1_Missense_Mutation_p.N1182S|BRPF1_ENST00000433861.2_Missense_Mutation_p.N1088S	p.N1189S	NM_001003694.1	NP_001003694.1	P55201	BRPF1_HUMAN			14	3970	+	Medulloblastoma(99;0.227)		1183					B4DEZ6|Q7Z6E0|Q8TCM6|Q9UHI0	Missense_Mutation	SNP	ENST00000457855.1	37	c.3566A>G	CCDS2575.1	.	.	.	.	.	.	.	.	.	.	A	7.535	0.659519	0.14645	.	.	ENSG00000156983	ENST00000433861;ENST00000424362;ENST00000383829;ENST00000302054;ENST00000457855	T;T;T;T;T	0.69561	-0.41;-0.41;-0.41;-0.41;-0.41	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	T	0.57799	0.2078	N	0.12569	0.235	0.80722	D	1	D;B;B;B	0.54047	0.964;0.004;0.002;0.016	P;B;B;B	0.54544	0.755;0.002;0.001;0.002	T	0.56691	-0.7937	10	0.02654	T	1	.	16.004	0.80344	1.0:0.0:0.0:0.0	.	1088;1182;1189;1183	P55201-4;P55201-3;P55201-2;P55201	.;.;.;BRPF1_HUMAN	S	1088;1182;1189;1183;1183	ENSP00000402485:N1088S;ENSP00000398863:N1182S;ENSP00000373340:N1189S;ENSP00000306297:N1183S;ENSP00000410210:N1183S	ENSP00000306297:N1183S	N	+	2	0	BRPF1	9763936	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.420000	0.80191	2.263000	0.75096	0.379000	0.24179	AAC		0.567	BRPF1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000338485.1	NM_001003694		28	124	0	0	0	0.788014	0	28	124					G	9788936	A	G	9788936	3	3	22	1	0	0	0	0	1	0	0	0	1520	43	2	4	3616	4	BRPF1	3	9788936	Missense_Mutation	SNP	A	TCGA-CH-5750-01A-11D-1576-08		9788936	188233494	13	888											
SLITRK3	22865	broad.mit.edu	37	chr3	164908014	164908014	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttaacctatttccacgtaggTccaaatgggttaaagagaca	14	11	8	8	1	0	1	0	0	0	1	2	2	2	1	3	2	1	2	3	2	6	5			TCGA-CH-5750-01A-11D-1576-08	TCGA-CH-5750-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b169c3-44e0-43e5-9ee3-2df7a678a5ea	69ebe1ab-c416-4473-8d82-91b475b206d4	g.chr3:164908014T>C	ENST00000475390.1	-	2	1048	c.605A>G	c.(604-606)gAc>gGc	p.D202G	SLITRK3_ENST00000241274.3_Missense_Mutation_p.D202G			O94933	SLIK3_HUMAN	SLIT and NTRK-like family, member 3	202					axonogenesis (GO:0007409)	integral component of membrane (GO:0016021)		p.D202G(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						TCCACGTAGGTCCAAATGGGT	0.408										HNSCC(40;0.11)																												ENST00000475390.1																			1	Substitution - Missense(1)	p.D202G(1)	prostate(1)	NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						c.(604-606)gAc>gGc		SLIT and NTRK-like family, member 3							66	68	68					3																	164908014		2203	4300	6503	SO:0001583	missense	22865					integral to membrane		g.chr3:164908014T>C	AB020655	CCDS3197.1	3q26.1	2004-07-28			ENSG00000121871	ENSG00000121871			23501	protein-coding gene	gene with protein product		609679				10048485, 14557068	Standard	NM_014926		Approved	KIAA0848	uc003fek.3	O94933	OTTHUMG00000158072	ENST00000475390.1:c.605A>G	3.37:g.164908014T>C	ENSP00000420091:p.Asp202Gly	HNSCC(40;0.11)				SLITRK3_ENST00000241274.3_Missense_Mutation_p.D202G	p.D202G			O94933	SLIK3_HUMAN			2	1048	-			202					Q1RMY6	Missense_Mutation	SNP	ENST00000475390.1	37	c.605A>G	CCDS3197.1	.	.	.	.	.	.	.	.	.	.	T	18.69	3.677490	0.68042	.	.	ENSG00000121871	ENST00000475390;ENST00000241274	T;T	0.57107	0.42;0.42	5.99	5.99	0.97316	.	0.000000	0.39834	N	0.001258	T	0.71728	0.3374	M	0.67397	2.05	0.58432	D	0.999998	D	0.69078	0.997	D	0.83275	0.996	T	0.74188	-0.3746	10	0.72032	D	0.01	-24.0302	16.4892	0.84195	0.0:0.0:0.0:1.0	.	202	O94933	SLIK3_HUMAN	G	202	ENSP00000420091:D202G;ENSP00000241274:D202G	ENSP00000241274:D202G	D	-	2	0	SLITRK3	166390708	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.040000	0.89188	2.296000	0.77279	0.533000	0.62120	GAC		0.408	SLITRK3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350126.1	NM_014926		56	117	0	0	0	0.870114	0	56	117					C	164908014	T	C	164908014	3	2	22	1	0	0	0	0	1	0	0	0	14744	1667	58	4	2332	4	SLITRK3	3	164908014	Missense_Mutation	SNP	T	TCGA-CH-5750-01A-11D-1576-08	155119078	164908014	33114416	14	889											
CORIN	10699	broad.mit.edu	37	chr4	47667239	47667239	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ataacttgtactgttgtaggGcaaattcatgcagagttcca	12	13	9	7	0	1	1	1	0	0	1	2	1	2	1	1	1	3	6	1	1	4	7			TCGA-CH-5750-01A-11D-1576-08	TCGA-CH-5750-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b169c3-44e0-43e5-9ee3-2df7a678a5ea	69ebe1ab-c416-4473-8d82-91b475b206d4	g.chr4:47667239G>A	ENST00000273857.4	-	11	1398	c.1399C>T	c.(1399-1401)Ccc>Tcc	p.P467S	CORIN_ENST00000504584.1_Missense_Mutation_p.P430S|CORIN_ENST00000505909.1_Missense_Mutation_p.P430S|CORIN_ENST00000508498.1_Missense_Mutation_p.P328S|CORIN_ENST00000502252.1_Missense_Mutation_p.P400S	NM_006587.2	NP_006578.2	Q9Y5Q5	CORIN_HUMAN	corin, serine peptidase	467	FZ 2. {ECO:0000255|PROSITE- ProRule:PRU00090}.				female pregnancy (GO:0007565)|peptide hormone processing (GO:0016486)|proteolysis (GO:0006508)|regulation of blood pressure (GO:0008217)|regulation of renal sodium excretion (GO:0035813)|regulation of systemic arterial blood pressure by atrial natriuretic peptide (GO:0003050)	cell surface (GO:0009986)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)|serine-type exopeptidase activity (GO:0070008)	p.P467T(1)		NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(18)|lung(39)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	79						CTGTTGTAGGGCAAATTCATG	0.353																																						ENST00000273857.4																			1	Substitution - Missense(1)	p.P467T(1)	lung(1)	NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(18)|lung(39)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	79						c.(1399-1401)Ccc>Tcc		corin, serine peptidase							89	88	89					4																	47667239		2203	4300	6503	SO:0001583	missense	10699				peptide hormone processing|regulation of systemic arterial blood pressure by atrial natriuretic peptide	integral to membrane|plasma membrane	scavenger receptor activity|serine-type endopeptidase activity|serine-type exopeptidase activity	g.chr4:47667239G>A	AF133845	CCDS3477.1, CCDS63958.1, CCDS75122.1	4p13-p12	2011-08-31	2005-08-17		ENSG00000145244	ENSG00000145244		"Serine peptidases / Transmembrane"	19012	protein-coding gene	gene with protein product		605236	"corin, serine protease"			10329693	Standard	NM_006587		Approved	PRSC, CRN, ATC2, Lrp4, TMPRSS10	uc003gxm.3	Q9Y5Q5	OTTHUMG00000099441	ENST00000273857.4:c.1399C>T	4.37:g.47667239G>A	ENSP00000273857:p.Pro467Ser					CORIN_ENST00000508498.1_Missense_Mutation_p.P328S|CORIN_ENST00000504584.1_Missense_Mutation_p.P430S|CORIN_ENST00000505909.1_Missense_Mutation_p.P430S|CORIN_ENST00000502252.1_Missense_Mutation_p.P400S	p.P467S	NM_006587.2	NP_006578.2	Q9Y5Q5	CORIN_HUMAN			11	1398	-			467			FZ 2.		B0ZBE3|Q2TBD2|Q4W5E5|Q4W5G6|Q9UHY2	Missense_Mutation	SNP	ENST00000273857.4	37	c.1399C>T	CCDS3477.1	.	.	.	.	.	.	.	.	.	.	G	17.01	3.279885	0.59758	.	.	ENSG00000145244	ENST00000273857;ENST00000508498;ENST00000502252;ENST00000505909;ENST00000504584	T;T;T;T;T	0.80304	-1.36;-1.36;-1.36;-1.36;-1.36	5.25	5.25	0.73442	Frizzled domain (5);	0.000000	0.85682	D	0.000000	D	0.88522	0.6459	M	0.62209	1.925	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.991;0.991	D	0.87150	0.2208	10	0.41790	T	0.15	.	19.0552	0.93062	0.0:0.0:1.0:0.0	.	430;430;400;467	B7Z4R1;B4E2W9;B4E1Y7;Q9Y5Q5	.;.;.;CORIN_HUMAN	S	467;328;400;430;430	ENSP00000273857:P467S;ENSP00000425597:P328S;ENSP00000424212:P400S;ENSP00000425401:P430S;ENSP00000423216:P430S	ENSP00000273857:P467S	P	-	1	0	CORIN	47361996	1.000000	0.71417	1.000000	0.80357	0.173000	0.22820	8.853000	0.92222	2.729000	0.93468	0.650000	0.86243	CCC		0.353	CORIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216906.2			4	207	0	0	0	0.150653	0	4	207					A	47667239	G	A	47667239	3	1	22	1	0	0	0	0	1	0	0	0	3752	1203	42	3	1777	3	CORIN	4	47667239	Missense_Mutation	SNP	G	TCGA-CH-5750-01A-11D-1576-08		47667239	143487037	15	890											
SRD5A3	79644	broad.mit.edu	37	chr4	56225643	56225643	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tgctcagaattctcggggcgGcacagttccagggtaaggac	9	8	14	10	2	2	1	1	0	1	1	4	2	3	2	1	5	1	4	1	5	2	3			TCGA-CH-5750-01A-11D-1576-08	TCGA-CH-5750-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b169c3-44e0-43e5-9ee3-2df7a678a5ea	69ebe1ab-c416-4473-8d82-91b475b206d4	g.chr4:56225643G>A	ENST00000264228.4	+	2	580	c.352G>A	c.(352-354)Gca>Aca	p.A118T	SRD5A3_ENST00000514398.1_3'UTR	NM_024592.4	NP_078868.1	Q9H8P0	PORED_HUMAN	steroid 5 alpha-reductase 3	118					androgen biosynthetic process (GO:0006702)|cellular protein metabolic process (GO:0044267)|dolichol metabolic process (GO:0019348)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|dolichyl diphosphate biosynthetic process (GO:0006489)|polyprenol catabolic process (GO:0016095)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	3-oxo-5-alpha-steroid 4-dehydrogenase activity (GO:0003865)|cholestenone 5-alpha-reductase activity (GO:0047751)|oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor (GO:0016628)			cervix(1)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	12	all_cancers(7;0.0308)|all_lung(4;0.00195)|Lung NSC(11;0.00431)|all_epithelial(27;0.0425)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.0179)		Spironolactone(DB00421)	TCTCGGGGCGGCACAGTTCCA	0.522																																						ENST00000264228.4																			0				cervix(1)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	12						c.(352-354)Gca>Aca		steroid 5 alpha-reductase 3							127	115	119					4																	56225643		2203	4300	6503	SO:0001583	missense	79644				androgen biosynthetic process|dolichol metabolic process|dolichol-linked oligosaccharide biosynthetic process|polyprenol catabolic process	endoplasmic reticulum membrane|integral to membrane	3-oxo-5-alpha-steroid 4-dehydrogenase activity|oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor	g.chr4:56225643G>A	AK023414	CCDS3498.1	4q12	2009-07-21			ENSG00000128039	ENSG00000128039			25812	protein-coding gene	gene with protein product		611715				17986282	Standard	NM_024592		Approved	FLJ13352, SRD5A2L, SRD5A2L1	uc003hau.3	Q9H8P0	OTTHUMG00000128733	ENST00000264228.4:c.352G>A	4.37:g.56225643G>A	ENSP00000264228:p.Ala118Thr					SRD5A3_ENST00000514398.1_3'UTR	p.A118T	NM_024592.4	NP_078868.1	Q9H8P0	PORED_HUMAN	Epithelial(7;0.0179)		2	580	+	all_cancers(7;0.0308)|all_lung(4;0.00195)|Lung NSC(11;0.00431)|all_epithelial(27;0.0425)|Glioma(25;0.08)|all_neural(26;0.101)		118					Q4W5Q6	Missense_Mutation	SNP	ENST00000264228.4	37	c.352G>A	CCDS3498.1	.	.	.	.	.	.	.	.	.	.	G	9.270	1.045342	0.19748	.	.	ENSG00000128039	ENST00000264228;ENST00000505210	T;T	0.36520	1.25;2.25	5.23	-3.13	0.05266	.	0.882406	0.09972	N	0.732079	T	0.16041	0.0386	N	0.17474	0.49	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.32295	-0.9912	10	0.11794	T	0.64	.	5.1451	0.14981	0.2725:0.0:0.4957:0.2318	.	118	Q9H8P0	PORED_HUMAN	T	118;93	ENSP00000264228:A118T;ENSP00000424714:A93T	ENSP00000264228:A118T	A	+	1	0	SRD5A3	55920400	0.000000	0.05858	0.000000	0.03702	0.206000	0.24218	-0.398000	0.07259	-0.491000	0.06697	0.563000	0.77884	GCA		0.522	SRD5A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250644.2	NM_024592		4	244	0	0	0	0.150653	0	4	244					A	56225643	G	A	56225643	3	1	22	1	0	0	0	0	1	0	0	0	15139	1203	42	3	358	3	SRD5A3	4	56225643	Missense_Mutation	SNP	G	TCGA-CH-5750-01A-11D-1576-08	8558404	56225643	134928633	16	891											
RG9MTD2	93587	broad.mit.edu	37	chr4	100477359	100477359	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gttctttttcagctggcctcCgtggcttgtcaagtaaaact	7	15	9	10	1	3	0	2	0	1	0	4	0	4	0	2	2	2	4	2	2	3	5			TCGA-CH-5750-01A-11D-1576-08	TCGA-CH-5750-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b169c3-44e0-43e5-9ee3-2df7a678a5ea	69ebe1ab-c416-4473-8d82-91b475b206d4	g.chr4:100477359C>T	ENST00000273962.3	-	5	751	c.439G>A	c.(439-441)Gga>Aga	p.G147R	TRMT10A_ENST00000394877.3_Missense_Mutation_p.G147R|TRMT10A_ENST00000394876.2_Missense_Mutation_p.G147R	NM_152292.4	NP_689505.1	Q8TBZ6	TM10A_HUMAN	tRNA methyltransferase 10 homolog A (S. cerevisiae)	147	SAM-dependent MTase TRM10-type. {ECO:0000255|PROSITE-ProRule:PRU01012}.				magnesium ion homeostasis (GO:0010960)	extracellular vesicular exosome (GO:0070062)	methyltransferase activity (GO:0008168)|poly(A) RNA binding (GO:0044822)	p.G147R(1)									AGCTGGCCTCCGTGGCTTGTC	0.313																																						ENST00000273962.3																			1	Substitution - Missense(1)	p.G147R(1)	prostate(1)								c.(439-441)Gga>Aga		tRNA methyltransferase 10 homolog A (S. cerevisiae)							139	128	132					4																	100477359		2202	4299	6501	SO:0001583	missense	93587							g.chr4:100477359C>T	BC028373	CCDS3650.1	4q23	2012-06-28	2012-06-28	2012-06-28	ENSG00000145331	ENSG00000145331			28403	protein-coding gene	gene with protein product			"RNA (guanine-9-) methyltransferase domain containing 2"	RG9MTD2		12477932	Standard	NM_152292		Approved	MGC27034, TRM10	uc003hva.4	Q8TBZ6	OTTHUMG00000131025	ENST00000273962.3:c.439G>A	4.37:g.100477359C>T	ENSP00000273962:p.Gly147Arg					TRMT10A_ENST00000394876.2_Missense_Mutation_p.G147R|TRMT10A_ENST00000394877.3_Missense_Mutation_p.G147R	p.G147R	NM_152292.4	NP_689505.1					5	751	-								B2R8X7|Q9Y2T9	Missense_Mutation	SNP	ENST00000273962.3	37	c.439G>A	CCDS3650.1	.	.	.	.	.	.	.	.	.	.	C	31	5.070430	0.93950	.	.	ENSG00000145331	ENST00000394877;ENST00000273962;ENST00000394876;ENST00000455368;ENST00000514547	T;T;T;T;T	0.26660	1.72;1.72;1.72;1.72;1.72	6.16	6.16	0.99307	.	0.102515	0.64402	D	0.000003	T	0.34978	0.0916	L	0.56199	1.76	0.80722	D	1	P	0.47350	0.894	P	0.45610	0.487	T	0.00701	-1.1603	10	0.31617	T	0.26	-31.3417	20.8598	0.99761	0.0:1.0:0.0:0.0	.	147	Q8TBZ6	RG9D2_HUMAN	R	147	ENSP00000378343:G147R;ENSP00000273962:G147R;ENSP00000378342:G147R;ENSP00000397551:G147R;ENSP00000423628:G147R	ENSP00000273962:G147R	G	-	1	0	RG9MTD2	100696382	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.112000	0.77086	2.937000	0.99478	0.650000	0.86243	GGA		0.313	TRMT10A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253668.1	NM_152292		6	102	0	0	0	0.27861	0	6	102					T	100477359	C	T	100477359	3	4	22	1	0	0	0	0	1	0	0	0	13272	661	23	2	596	2	RG9MTD2	4	100477359	Missense_Mutation	SNP	C	TCGA-CH-5750-01A-11D-1576-08	44251716	100477359	90676917	17	892											
INTU	27152	broad.mit.edu	37	chr4	128577790	128577791	+	Splice_Site	INS	-	-	GT																															tattgttattctggtttcagINSgtgatgtccttgttgctgtg																										TCGA-CH-5750-01A-11D-1576-08	TCGA-CH-5750-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b169c3-44e0-43e5-9ee3-2df7a678a5ea	69ebe1ab-c416-4473-8d82-91b475b206d4	g.chr4:128577790_128577791insGT	ENST00000335251.6	+	3	785_786		c.e3-1		INTU_ENST00000296461.5_Splice_Site	NM_015693.3	NP_056508.2	Q9ULD6	INTU_HUMAN	inturned planar cell polarity protein						cilium assembly (GO:0042384)|hair follicle morphogenesis (GO:0031069)|keratinocyte differentiation (GO:0030216)|limb development (GO:0060173)|negative regulation of cell division (GO:0051782)|negative regulation of keratinocyte proliferation (GO:0010839)|nervous system development (GO:0007399)|positive regulation of smoothened signaling pathway (GO:0045880)|regulation of smoothened signaling pathway (GO:0008589)|spinal cord dorsal/ventral patterning (GO:0021513)	cytoplasm (GO:0005737)				breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	43						TCTGGTTTCAGGTGATGTCCTT	0.366																																						ENST00000335251.5																			0				breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	43						c.e3-1		inturned planar cell polarity protein																																				SO:0001630	splice_region_variant	27152							g.chr4:128577790_128577791insGT	BC051698	CCDS34061.1	4q28.2	2013-03-05	2013-03-05	2006-10-24	ENSG00000164066	ENSG00000164066			29239	protein-coding gene	gene with protein product		610621	"PDZ domain containing 6", "inturned planar cell polarity effector homolog (Drosophila)"	PDZK6, PDZD6		10574462, 21761479	Standard	NM_015693		Approved	KIAA1284	uc003ifk.2	Q9ULD6	OTTHUMG00000161202	ENST00000335251.6:c.683-1->GT	4.37:g.128577791_128577792dupGT						INTU_ENST00000296461.5_Splice_Site		NM_015693.3	NP_056508.2	Q9ULD6	PDZD6_HUMAN			3	785_786	+								A1L4N5|D6RAE6|D6RBT4|Q4W5I8|Q86V55	Splice_Site	INS	ENST00000335251.6	37		CCDS34061.1																																																																																				0.366	INTU-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364147.2	XM_371707	Intron	58	113						58	113	---	---	---	---	GT	128577791	-	GT	128577790	8	5	22	1	0	1	1	0	0	0	1	0	7786	1014	35	0	692	0	INTU	4	128577790	Splice_Site	INS	-	TCGA-CH-5750-01A-11D-1576-08	28100431	128577790	62576486	18	893											
SORBS2	8470	broad.mit.edu	37	chr4	186545236	186545236	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atcttcaggaaccccggggcGttgcgggctgacctgtgtct	5	10	14	12	3	3	1	1	1	2	0	3	2	3	2	3	4	2	2	3	4	1	2	rs553201967		TCGA-CH-5750-01A-11D-1576-08	TCGA-CH-5750-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b169c3-44e0-43e5-9ee3-2df7a678a5ea	69ebe1ab-c416-4473-8d82-91b475b206d4	g.chr4:186545236G>T	ENST00000284776.7	-	13	1844	c.1335C>A	c.(1333-1335)aaC>aaA	p.N445K	SORBS2_ENST00000319471.9_Intron|SORBS2_ENST00000393528.3_Intron|SORBS2_ENST00000418609.1_Missense_Mutation_p.N349K|SORBS2_ENST00000449407.2_Intron|SORBS2_ENST00000355634.5_Missense_Mutation_p.N545K|SORBS2_ENST00000498125.1_Intron|SORBS2_ENST00000431808.1_Missense_Mutation_p.N445K|SORBS2_ENST00000437304.2_Intron|SORBS2_ENST00000448662.2_Intron	NM_021069.4	NP_066547.1	O94875	SRBS2_HUMAN	sorbin and SH3 domain containing 2	445					actin filament organization (GO:0007015)|cell adhesion (GO:0007155)|cell migration (GO:0016477)	actin cytoskeleton (GO:0015629)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|Z disc (GO:0030018)	cytoskeletal adaptor activity (GO:0008093)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)			endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1)	53		all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)		ACCCCGGGGCGTTGCGGGCTG	0.592																																					Esophageal Squamous(153;41 2433 9491 36028)	ENST00000431808.1																			0				endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1)	53						c.(1333-1335)aaC>aaA		sorbin and SH3 domain containing 2							87	79	82					4																	186545236		2203	4300	6503	SO:0001583	missense	8470					actin cytoskeleton|nucleus|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding	g.chr4:186545236G>T		CCDS3845.1, CCDS43289.2, CCDS47173.1, CCDS47174.1, CCDS47175.1, CCDS47176.1, CCDS54825.1, CCDS59482.1	4q35.1	2008-02-05			ENSG00000154556	ENSG00000154556			24098	protein-coding gene	gene with protein product	"Arg/Abl interacting protein"					9211900, 9872452	Standard	NM_021069		Approved	ARGBP2, KIAA0777	uc003iym.3	O94875	OTTHUMG00000157215	ENST00000284776.7:c.1335C>A	4.37:g.186545236G>T	ENSP00000284776:p.Asn445Lys					SORBS2_ENST00000284776.7_Missense_Mutation_p.N445K|SORBS2_ENST00000449407.2_Intron|SORBS2_ENST00000448662.2_Intron|SORBS2_ENST00000437304.2_Intron|SORBS2_ENST00000498125.1_Intron|SORBS2_ENST00000418609.1_Missense_Mutation_p.N349K|SORBS2_ENST00000393528.3_Intron|SORBS2_ENST00000355634.5_Missense_Mutation_p.N545K|SORBS2_ENST00000319471.9_Intron	p.N445K			O94875	SRBS2_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)	14	1898	-		all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244)	445					A6NEK9|B3KPQ7|B7Z1G5|B7Z3X6|C9JKV9|D3DP62|D3DP63|E9PAS5|E9PAW4|G3XAI0|H7BXR4|J3KNZ5|O60592|O60593|Q96EX0	Missense_Mutation	SNP	ENST00000284776.7	37	c.1335C>A	CCDS3845.1	.	.	.	.	.	.	.	.	.	.	G	8.265	0.812100	0.16537	.	.	ENSG00000154556	ENST00000284776;ENST00000431808;ENST00000418609;ENST00000355634	T;T;T;T	0.35048	1.43;1.43;1.33;1.43	5.76	-7.16	0.01516	.	0.197767	0.50627	D	0.000103	T	0.21468	0.0517	N	0.22421	0.69	0.09310	N	1	B;B;B	0.33583	0.418;0.36;0.242	B;B;B	0.31390	0.129;0.096;0.06	T	0.01684	-1.1296	10	0.62326	D	0.03	-4.4353	18.0877	0.89463	0.7062:0.0:0.2938:0.0	.	349;545;445	B7Z3X6;B3KPQ7;O94875	.;.;SRBS2_HUMAN	K	445;445;349;545	ENSP00000284776:N445K;ENSP00000411764:N445K;ENSP00000397482:N349K;ENSP00000347852:N545K	ENSP00000284776:N445K	N	-	3	2	SORBS2	186782230	0.099000	0.21834	0.050000	0.19076	0.097000	0.18754	-0.198000	0.09505	-1.622000	0.01560	0.563000	0.77884	AAC		0.592	SORBS2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000347944.3	NM_003603		4	163	1	0	0.150653	0.150653	0.157133	4	163					T	186545236	G	T	186545236	3	4	22	1	0	0	0	0	1	0	0	0	14928	1136	40	5	2003	5	SORBS2	4	186545236	Missense_Mutation	SNP	G	TCGA-CH-5750-01A-11D-1576-08	57967446	186545236	4609040	19	894											
PLCXD3	345557	broad.mit.edu	37	chr5	41382448	41382448	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tctgggcttggtggaaattcGaagatcaaaataacgaattc	14	11	10	6	2	2	1	1	0	1	1	4	4	2	2	0	3	1	1	0	3	6	4			TCGA-CH-5750-01A-11D-1576-08	TCGA-CH-5750-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b169c3-44e0-43e5-9ee3-2df7a678a5ea	69ebe1ab-c416-4473-8d82-91b475b206d4	g.chr5:41382448G>A	ENST00000377801.3	-	2	366	c.292C>T	c.(292-294)Cga>Tga	p.R98*	PLCXD3_ENST00000328457.3_Nonsense_Mutation_p.R98*			Q63HM9	PLCX3_HUMAN	phosphatidylinositol-specific phospholipase C, X domain containing 3	98	PI-PLC X-box. {ECO:0000255|PROSITE- ProRule:PRU00270}.				lipid catabolic process (GO:0016042)		phosphoric diester hydrolase activity (GO:0008081)|signal transducer activity (GO:0004871)	p.R98*(1)		central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						GTGGAAATTCGAAGATCAAAA	0.443																																						ENST00000377801.3																			1	Substitution - Nonsense(1)	p.R98*(1)	prostate(1)	central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						c.(292-294)Cga>Tga		phosphatidylinositol-specific phospholipase C, X domain containing 3							73	77	76					5																	41382448		2203	4300	6503	SO:0001587	stop_gained	345557				intracellular signal transduction|lipid catabolic process		phospholipase C activity|signal transducer activity	g.chr5:41382448G>A		CCDS34150.1	5p13.1	2004-09-09			ENSG00000182836	ENSG00000182836			31822	protein-coding gene	gene with protein product							Standard	NM_001005473		Approved		uc003jmm.1	Q63HM9	OTTHUMG00000162076	ENST00000377801.3:c.292C>T	5.37:g.41382448G>A	ENSP00000367032:p.Arg98*					PLCXD3_ENST00000328457.3_Nonsense_Mutation_p.R98*	p.R98*			Q63HM9	PLCX3_HUMAN			2	366	-			98			PI-PLC X-box.		A6NL04	Nonsense_Mutation	SNP	ENST00000377801.3	37	c.292C>T	CCDS34150.1	.	.	.	.	.	.	.	.	.	.	G	37	5.983984	0.97173	.	.	ENSG00000182836	ENST00000377801;ENST00000328457	.	.	.	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-6.4392	15.2559	0.73585	0.0:0.0:0.8274:0.1726	.	.	.	.	X	98	.	ENSP00000333751:R98X	R	-	1	2	PLCXD3	41418205	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.026000	0.70873	2.885000	0.99019	0.655000	0.94253	CGA		0.443	PLCXD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367109.1	XM_293875		6	186	0	0	0	0.217242	0	6	186					A	41382448	G	A	41382448	4	1	22	1	0	0	0	0	0	1	0	0	12043	1066	37	2	681	2	PLCXD3	5	41382448	Nonsense_Mutation	SNP	G	TCGA-CH-5750-01A-11D-1576-08		41382448	139532812	20	895											
HMGCR	3156	broad.mit.edu	37	chr5	74647329	74647329	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttggtaactcctccttactcGatacttcatcagtactggtg	8	15	7	11	1	2	0	2	0	0	0	5	1	4	0	2	2	4	2	2	2	4	6	rs146188615		TCGA-CH-5750-01A-11D-1576-08	TCGA-CH-5750-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b169c3-44e0-43e5-9ee3-2df7a678a5ea	69ebe1ab-c416-4473-8d82-91b475b206d4	g.chr5:74647329G>A	ENST00000287936.4	+	11	1426	c.1270G>A	c.(1270-1272)Gat>Aat	p.D424N	HMGCR_ENST00000343975.5_Missense_Mutation_p.D424N|HMGCR_ENST00000511206.1_Missense_Mutation_p.D424N	NM_000859.2	NP_000850.1	P04035	HMDH_HUMAN	3-hydroxy-3-methylglutaryl-CoA reductase	424	Linker.				aging (GO:0007568)|cellular lipid metabolic process (GO:0044255)|cholesterol biosynthetic process (GO:0006695)|coenzyme A metabolic process (GO:0015936)|isoprenoid biosynthetic process (GO:0008299)|myoblast differentiation (GO:0045445)|negative regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061179)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of striated muscle cell apoptotic process (GO:0010664)|negative regulation of vasodilation (GO:0045908)|negative regulation of wound healing (GO:0061045)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of skeletal muscle tissue development (GO:0048643)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein tetramerization (GO:0051262)|response to ethanol (GO:0045471)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)|ubiquinone metabolic process (GO:0006743)|visual learning (GO:0008542)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|peroxisomal membrane (GO:0005778)	coenzyme binding (GO:0050662)|hydroxymethylglutaryl-CoA reductase (NADPH) activity (GO:0004420)|hydroxymethylglutaryl-CoA reductase activity (GO:0042282)|NADPH binding (GO:0070402)			breast(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	20		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Prostate(461;0.174)		OV - Ovarian serous cystadenocarcinoma(47;2.24e-54)	Atorvastatin(DB01076)|Fluvastatin(DB01095)|Lovastatin(DB00227)|Pitavastatin(DB08860)|Pravastatin(DB00175)|Rosuvastatin(DB01098)|Simvastatin(DB00641)	CTCCTTACTCGATACTTCATC	0.428																																						ENST00000287936.4																			0				breast(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	20						c.(1270-1272)Gat>Aat		3-hydroxy-3-methylglutaryl-CoA reductase	Atorvastatin(DB01076)|Bezafibrate(DB01393)|Cerivastatin(DB00439)|Fluvastatin(DB01095)|Lovastatin(DB00227)|NADH(DB00157)|Pravastatin(DB00175)|Rosuvastatin(DB01098)|Simvastatin(DB00641)						129	120	123					5																	74647329		2203	4300	6503	SO:0001583	missense	3156				cholesterol biosynthetic process|coenzyme A metabolic process|germ cell migration|gonad development|isoprenoid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|peroxisomal membrane	hydroxymethylglutaryl-CoA reductase (NADPH) activity|NADP binding	g.chr5:74647329G>A		CCDS4027.1, CCDS47234.1	5q13.3-q14	2012-10-02	2010-04-30		ENSG00000113161	ENSG00000113161	1.1.1.88, 1.1.1.34		5006	protein-coding gene	gene with protein product	"hydroxymethylglutaryl-CoA reductase", "3-hydroxy-3-methylglutaryl CoA reductase (NADPH)"	142910	"3-hydroxy-3-methylglutaryl-Coenzyme A reductase"				Standard	NM_000859		Approved		uc003kdp.3	P04035	OTTHUMG00000102069	ENST00000287936.4:c.1270G>A	5.37:g.74647329G>A	ENSP00000287936:p.Asp424Asn					HMGCR_ENST00000511206.1_Missense_Mutation_p.D424N|HMGCR_ENST00000343975.5_Missense_Mutation_p.D424N	p.D424N	NM_000859.2	NP_000850.1	P04035	HMDH_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;2.24e-54)	11	1426	+		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Prostate(461;0.174)	424			Linker.		B7Z3Y9|Q8N190	Missense_Mutation	SNP	ENST00000287936.4	37	c.1270G>A	CCDS4027.1	.	.	.	.	.	.	.	.	.	.	G	7.030	0.560358	0.13498	.	.	ENSG00000113161	ENST00000511206;ENST00000544469;ENST00000287936;ENST00000343975	T;T;T	0.43294	0.95;0.95;0.95	5.88	-2.21	0.06973	.	0.812647	0.11944	N	0.514379	T	0.18257	0.0438	N	0.08118	0	0.09310	N	1	B;B;B	0.23650	0.071;0.021;0.089	B;B;B	0.20955	0.016;0.016;0.032	T	0.24905	-1.0147	10	0.21014	T	0.42	0.0291	7.889	0.29667	0.3947:0.1084:0.4969:0.0	.	424;424;424	B2R649;P04035-2;P04035	.;.;HMDH_HUMAN	N	424;355;424;424	ENSP00000426745:D424N;ENSP00000287936:D424N;ENSP00000340816:D424N	ENSP00000287936:D424N	D	+	1	0	HMGCR	74683085	0.000000	0.05858	0.000000	0.03702	0.018000	0.09664	0.195000	0.17155	-0.290000	0.09025	-0.291000	0.09656	GAT		0.428	HMGCR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219877.2			4	230	0	0	0	0.184627	0	4	230					A	74647329	G	A	74647329	3	1	22	1	0	0	0	0	1	0	0	0	7231	1058	37	2	1308	2	HMGCR	5	74647329	Missense_Mutation	SNP	G	TCGA-CH-5750-01A-11D-1576-08	33264881	74647329	106267931	21	896											
EPB41L4A	64097	broad.mit.edu	37	chr5	111754715	111754716	+	Frame_Shift_Del	DEL	GA	GA	-																															ttcgcagtaaaattcttccgGaacagcgcagaaacagccca																										TCGA-CH-5750-01A-11D-1576-08	TCGA-CH-5750-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b169c3-44e0-43e5-9ee3-2df7a678a5ea	69ebe1ab-c416-4473-8d82-91b475b206d4	g.chr5:111754715_111754716delGA	ENST00000261486.5	-	1	297_298	c.21_22delTC	c.(19-24)gttccgfs	p.P8fs	EPB41L4A-AS2_ENST00000600409.1_5'Flank	NM_022140.3	NP_071423	Q9HCS5	E41LA_HUMAN	erythrocyte membrane protein band 4.1 like 4A	8						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)				breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(2)|skin(1)	34		all_cancers(142;4.93e-06)|all_epithelial(76;2.28e-08)|Prostate(80;0.000244)|Colorectal(10;0.000788)|Ovarian(225;0.0448)|Lung NSC(167;0.126)|all_lung(232;0.135)		OV - Ovarian serous cystadenocarcinoma(64;6.24e-09)|Epithelial(69;1.43e-07)|all cancers(49;2.78e-05)|COAD - Colon adenocarcinoma(37;0.0467)|Colorectal(14;0.0791)		AATTCTTCCGGAACAGCGCAGA	0.594																																						ENST00000261486.5																			0				breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(2)|skin(1)	34						c.(19-24)gtcgfs		erythrocyte membrane protein band 4.1 like 4A																																				SO:0001589	frameshift_variant	64097					cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding	g.chr5:111754715_111754716delGA	AB030240	CCDS43350.1	5q21.3	2008-02-05			ENSG00000129595	ENSG00000129595			13278	protein-coding gene	gene with protein product		612141				10874211	Standard	XM_005272043		Approved	NBL4	uc003kpv.1	Q9HCS5	OTTHUMG00000162902	ENST00000261486.5:c.21_22delTC	5.37:g.111754715_111754716delGA	ENSP00000261486:p.Pro8fs						p.VP7fs	NM_022140.3	NP_071423.3	Q9HCS5	E41LA_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;6.24e-09)|Epithelial(69;1.43e-07)|all cancers(49;2.78e-05)|COAD - Colon adenocarcinoma(37;0.0467)|Colorectal(14;0.0791)	1	297_298	-		all_cancers(142;4.93e-06)|all_epithelial(76;2.28e-08)|Prostate(80;0.000244)|Colorectal(10;0.000788)|Ovarian(225;0.0448)|Lung NSC(167;0.126)|all_lung(232;0.135)	7					A4FUI6	Frame_Shift_Del	DEL	ENST00000261486.5	37	c.21_22delTC	CCDS43350.1																																																																																				0.594	EPB41L4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370969.1			17	62						17	62	---	---	---	---	-	111754716	GA	-	111754715	7	5	22	1	0	1	0	1	0	0	0	0	5155	1174	41	0	2130	0	EPB41L4A	5	111754715	Frame_Shift_Del	DEL	GA	TCGA-CH-5750-01A-11D-1576-08	37107386	111754715	69160545	22	897											
DMXL1	1657	broad.mit.edu	37	chr5	118486030	118486030	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tagtttaccaggactcagccGgatggagcagatgtctttga	10	11	12	8	1	2	2	1	1	1	1	2	5	2	5	2	3	3	2	2	3	2	4			TCGA-CH-5750-01A-11D-1576-08	TCGA-CH-5750-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b169c3-44e0-43e5-9ee3-2df7a678a5ea	69ebe1ab-c416-4473-8d82-91b475b206d4	g.chr5:118486030G>A	ENST00000311085.8	+	18	4588	c.4508G>A	c.(4507-4509)cGg>cAg	p.R1503Q	DMXL1_ENST00000539542.1_Missense_Mutation_p.R1503Q	NM_005509.4	NP_005500.4	Q9Y485	DMXL1_HUMAN	Dmx-like 1	1503										breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)	86		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)		GGACTCAGCCGGATGGAGCAG	0.448																																						ENST00000311085.8																			0				breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)	86						c.(4507-4509)cGg>cAg		Dmx-like 1							123	120	121					5																	118486030		2202	4300	6502	SO:0001583	missense	1657							g.chr5:118486030G>A	AJ005821	CCDS4125.1, CCDS75289.1	5q22	2013-01-10			ENSG00000172869	ENSG00000172869		"WD repeat domain containing"	2937	protein-coding gene	gene with protein product		605671				10708522	Standard	NM_005509		Approved		uc003ksd.2	Q9Y485	OTTHUMG00000128898	ENST00000311085.8:c.4508G>A	5.37:g.118486030G>A	ENSP00000309690:p.Arg1503Gln					DMXL1_ENST00000539542.1_Missense_Mutation_p.R1503Q	p.R1503Q	NM_005509.4	NP_005500.4	Q9Y485	DMXL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)	18	4588	+		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)	1503						Missense_Mutation	SNP	ENST00000311085.8	37	c.4508G>A	CCDS4125.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.380501	0.82792	.	.	ENSG00000172869	ENST00000311085;ENST00000539542	T;T	0.46063	0.88;0.88	5.42	5.42	0.78866	.	0.000000	0.85682	D	0.000000	T	0.66597	0.2805	M	0.73962	2.25	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.73708	0.968;0.981	T	0.68250	-0.5458	10	0.62326	D	0.03	-14.912	19.5764	0.95446	0.0:0.0:1.0:0.0	.	1503;1503	F5H269;Q9Y485	.;DMXL1_HUMAN	Q	1503	ENSP00000309690:R1503Q;ENSP00000439479:R1503Q	ENSP00000309690:R1503Q	R	+	2	0	DMXL1	118513929	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.420000	0.97426	2.705000	0.92388	0.557000	0.71058	CGG		0.448	DMXL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250862.1	NM_005509		5	474	0	0	0	0.184627	0	5	474					A	118486030	G	A	118486030	3	1	22	1	0	0	0	0	1	0	0	0	4594	1116	39	2	4578	2	DMXL1	5	118486030	Missense_Mutation	SNP	G	TCGA-CH-5750-01A-11D-1576-08	6731315	118486030	62429230	23	898											
FNIP1	96459	broad.mit.edu	37	chr5	131034664	131034664	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	atgccaaacttctctgactgGcatcagctgatctccggctc	8	11	8	14	1	3	2	1	2	2	0	6	2	3	2	2	2	3	3	2	2	1	1			TCGA-CH-5750-01A-11D-1576-08	TCGA-CH-5750-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b169c3-44e0-43e5-9ee3-2df7a678a5ea	69ebe1ab-c416-4473-8d82-91b475b206d4	g.chr5:131034664G>A	ENST00000510461.1	-	11	1243	c.1148C>T	c.(1147-1149)gCc>gTc	p.A383V	FNIP1_ENST00000307954.8_Missense_Mutation_p.A338V|FNIP1_ENST00000511848.1_Missense_Mutation_p.A383V|CTC-432M15.3_ENST00000514667.1_Intron|FNIP1_ENST00000307968.7_Missense_Mutation_p.A355V	NM_133372.2	NP_588613	Q8TF40	FNIP1_HUMAN	folliculin interacting protein 1	383					cellular response to starvation (GO:0009267)|immature B cell differentiation (GO:0002327)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of TOR signaling (GO:0032007)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of B cell apoptotic process (GO:0002904)|positive regulation of GTPase activity (GO:0043547)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of protein phosphorylation (GO:0001934)|regulation of pro-B cell differentiation (GO:2000973)|regulation of protein phosphorylation (GO:0001932)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)	p.A383V(1)		NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34		all_cancers(142;0.00347)|Lung NSC(810;0.106)|all_lung(232;0.123)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0665)		TCTCTGACTGGCATCAGCTGA	0.353																																						ENST00000307968.7																			1	Substitution - Missense(1)	p.A383V(1)	prostate(1)	NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						c.(1063-1065)gCc>gTc		folliculin interacting protein 1							145	137	140					5																	131034664		2203	4300	6503	SO:0001583	missense	96459							g.chr5:131034664G>A	DQ145719	CCDS34226.1, CCDS34227.1	5q23.3	2014-01-28				ENSG00000217128			29418	protein-coding gene	gene with protein product		610594				11853319, 17028174	Standard	NM_001008738		Approved	KIAA1961		Q8TF40		ENST00000510461.1:c.1148C>T	5.37:g.131034664G>A	ENSP00000421985:p.Ala383Val					FNIP1_ENST00000510461.1_Missense_Mutation_p.A383V|FNIP1_ENST00000307954.8_Missense_Mutation_p.A338V|FNIP1_ENST00000514667.1_Intron|FNIP1_ENST00000511848.1_Missense_Mutation_p.A383V	p.A355V	NM_001008738.2	NP_001008738.2			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0665)	10	1063	-		all_cancers(142;0.00347)|Lung NSC(810;0.106)|all_lung(232;0.123)|Breast(839;0.198)						D6RJH5|Q86T47|Q9BUT0	Missense_Mutation	SNP	ENST00000510461.1	37	c.1064C>T	CCDS34227.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.384746	0.82792	.	.	ENSG00000217128	ENST00000307968;ENST00000307954;ENST00000544351;ENST00000510461;ENST00000511848	T;T;T;T	0.30182	1.54;1.54;1.54;1.54	5.27	5.27	0.74061	.	.	.	.	.	T	0.30792	0.0776	L	0.29908	0.895	0.58432	D	0.999999	B;P;B;B	0.39480	0.29;0.675;0.29;0.234	B;B;B;B	0.41813	0.185;0.367;0.185;0.197	T	0.05099	-1.0906	9	0.49607	T	0.09	-0.4063	19.2391	0.93875	0.0:0.0:1.0:0.0	.	383;383;355;383	A8K8V8;Q8TF40-2;Q8TF40-3;Q8TF40	.;.;.;FNIP1_HUMAN	V	355;338;143;383;383	ENSP00000309266:A355V;ENSP00000310453:A338V;ENSP00000421985:A383V;ENSP00000425619:A383V	ENSP00000310453:A338V	A	-	2	0	FNIP1	131062563	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.091000	0.71406	2.602000	0.87976	0.650000	0.86243	GCC		0.353	FNIP1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370077.1	NM_133372		7	239	0	0	0	0.307466	0	7	239					A	131034664	G	A	131034664	3	1	22	1	0	0	0	0	1	0	0	0	5975	1203	42	3	2384	3	FNIP1	5	131034664	Missense_Mutation	SNP	G	TCGA-CH-5750-01A-11D-1576-08	12548634	131034664	49880596	24	899											
P4HA2	8974	broad.mit.edu	37	chr5	131531126	131531126	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ttcttaggccaaattgcagcCcccagatcagggaagacggt	11	8	11	11	1	2	2	1	0	1	2	2	3	2	3	3	3	2	1	3	3	3	3			TCGA-CH-5750-01A-11D-1576-08	TCGA-CH-5750-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b169c3-44e0-43e5-9ee3-2df7a678a5ea	69ebe1ab-c416-4473-8d82-91b475b206d4	g.chr5:131531126C>A	ENST00000401867.1	-	14	1987	c.1419G>T	c.(1417-1419)ggG>ggT	p.G473G	P4HA2-AS1_ENST00000417667.1_RNA|P4HA2_ENST00000360568.3_Silent_p.G471G|P4HA2_ENST00000379104.2_Silent_p.G473G|P4HA2_ENST00000166534.4_Silent_p.G473G|P4HA2_ENST00000379086.1_Silent_p.G471G|P4HA2_ENST00000379100.2_Silent_p.G471G			O15460	P4HA2_HUMAN	prolyl 4-hydroxylase, alpha polypeptide II	473	Fe2OG dioxygenase. {ECO:0000255|PROSITE- ProRule:PRU00805}.				peptidyl-proline hydroxylation to 4-hydroxy-L-proline (GO:0018401)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|procollagen-proline 4-dioxygenase complex (GO:0016222)	electron carrier activity (GO:0009055)|iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen (GO:0016702)|procollagen-proline 4-dioxygenase activity (GO:0004656)	p.G473G(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24		all_cancers(142;0.103)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		L-Proline(DB00172)|Succinic acid(DB00139)	AAATTGCAGCCCCCAGATCAG	0.493																																					Esophageal Squamous(68;117 1135 17362 19256 34242)	ENST00000401867.1																			1	Substitution - coding silent(1)	p.G473G(1)	prostate(1)	breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24						c.(1417-1419)ggG>ggT		prolyl 4-hydroxylase, alpha polypeptide II	L-Proline(DB00172)|Succinic acid(DB00139)						122	108	113					5																	131531126		2203	4300	6503	SO:0001819	synonymous_variant	8974					endoplasmic reticulum lumen	electron carrier activity|iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 4-dioxygenase activity|protein binding	g.chr5:131531126C>A	U90441	CCDS4151.1, CCDS34230.1	5q31	2008-12-09	2008-12-09		ENSG00000072682	ENSG00000072682	1.14.11.2		8547	protein-coding gene	gene with protein product	"4-PH alpha 2", "collagen prolyl 4-hydroxylase alpha(II)"	600608	"procollagen-proline, 2-oxoglutarate 4-dioxygenase (proline 4-hydroxylase), alpha polypeptide II"			9211872, 9149945	Standard	NM_001142598		Approved	C-P4Halpha(II)	uc003kwl.3	O15460	OTTHUMG00000059647	ENST00000401867.1:c.1419G>T	5.37:g.131531126C>A						P4HA2_ENST00000379086.1_Silent_p.G471G|P4HA2_ENST00000379100.2_Silent_p.G471G|P4HA2_ENST00000379104.2_Silent_p.G473G|P4HA2_ENST00000360568.3_Silent_p.G471G|P4HA2_ENST00000166534.4_Silent_p.G473G	p.G473G			O15460	P4HA2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		14	1987	-		all_cancers(142;0.103)|Breast(839;0.198)	473			Fe2OG dioxygenase.		D3DQ85|D3DQ86|Q8WWN0	Silent	SNP	ENST00000401867.1	37	c.1419G>T	CCDS4151.1																																																																																				0.493	P4HA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000132653.4	NM_004199		32	79	1	0	3.3946e-10	0.812448	3.78478e-10	32	79					A	131531126	C	A	131531126	2	1	22	1	0	0	0	0	0	0	0	1	11357	610	22	5		5	P4HA2	5	131531126	Silent	SNP	C	TCGA-CH-5750-01A-11D-1576-08	496462	131531126	49384134	25	900											
PCDHGA2	56113	broad.mit.edu	37	chr5	140719143	140719143	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctggagcgctctctggaccGcgaggaagaggctgttcacc	7	7	15	12	3	2	1	1	0	1	1	3	5	2	4	2	4	1	4	2	4	1	1			TCGA-CH-5750-01A-11D-1576-08	TCGA-CH-5750-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b169c3-44e0-43e5-9ee3-2df7a678a5ea	69ebe1ab-c416-4473-8d82-91b475b206d4	g.chr5:140719143G>A	ENST00000394576.2	+	1	605	c.605G>A	c.(604-606)cGc>cAc	p.R202H	PCDHGA1_ENST00000517417.1_Intron	NM_018915.2	NP_061738.1	Q9Y5H1	PCDG2_HUMAN	protocadherin gamma subfamily A, 2	202	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.R202H(2)		breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCTCTGGACCGCGAGGAAGAG	0.592																																						ENST00000394576.2																			2	Substitution - Missense(2)	p.R202H(2)	prostate(2)	breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77						c.(604-606)cGc>cAc									83	80	81					5																	140719143		2203	4300	6503	SO:0001583	missense	0							g.chr5:140719143G>A	AF152508	CCDS47289.1	5q31	2011-03-28			ENSG00000081853	ENSG00000081853		"Cadherins / Protocadherins : Clustered"	8700	other	protocadherin		606289				10380929	Standard	NM_018915		Approved	PCDH-GAMMA-A2		Q9Y5H1	OTTHUMG00000163679	ENST00000394576.2:c.605G>A	5.37:g.140719143G>A	ENSP00000378077:p.Arg202His					PCDHGA1_ENST00000517417.1_Intron	p.R202H	NM_018915.2	NP_061738.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	605	+								Q52LL6|Q9Y5D5	Missense_Mutation	SNP	ENST00000394576.2	37	c.605G>A	CCDS47289.1	.	.	.	.	.	.	.	.	.	.	.	14.75	2.629920	0.46944	.	.	ENSG00000081853	ENST00000394576	T	0.60040	0.22	5.26	4.4	0.53042	Cadherin (4);Cadherin-like (1);	0.000000	0.40144	U	0.001174	T	0.80037	0.4550	M	0.91038	3.17	0.31712	N	0.639376	D;D	0.89917	1.0;1.0	D;D	0.85130	0.991;0.997	D	0.85159	0.0991	10	0.59425	D	0.04	.	13.8775	0.63662	0.0746:0.0:0.9254:0.0	.	202;202	Q9Y5H1-2;Q9Y5H1	.;PCDG2_HUMAN	H	202	ENSP00000378077:R202H	ENSP00000378077:R202H	R	+	2	0	PCDHGA2	140699327	0.991000	0.36638	0.990000	0.47175	0.003000	0.03518	5.779000	0.68948	1.365000	0.46057	-0.140000	0.14226	CGC		0.592	PCDHGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374738.1	NM_018915		7	129	0	0	0	0.27861	0	7	129					A	140719143	G	A	140719143	3	1	22	1	0	0	0	0	1	0	0	0	11554	1087	38	1	607	1	PCDHGA2	5	140719143	Missense_Mutation	SNP	G	TCGA-CH-5750-01A-11D-1576-08	9188017	140719143	40196117	26	901											
TCOF1	6949	broad.mit.edu	37	chr5	149755319	149755319	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aacatcctccaggccaaaccCacctccagtcctgccaaggg	11	5	7	18	0	0	0	0	0	0	0	4	0	4	0	8	2	3	0	8	2	3	0			TCGA-CH-5750-01A-11D-1576-08	TCGA-CH-5750-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b169c3-44e0-43e5-9ee3-2df7a678a5ea	69ebe1ab-c416-4473-8d82-91b475b206d4	g.chr5:149755319C>T	ENST00000504761.2	+	12	1740	c.1740C>T	c.(1738-1740)ccC>ccT	p.P580P	TCOF1_ENST00000323668.7_Silent_p.P503P|TCOF1_ENST00000377797.3_Silent_p.P580P|TCOF1_ENST00000439160.2_Silent_p.P580P|TCOF1_ENST00000394269.3_Silent_p.P580P|TCOF1_ENST00000445265.2_Silent_p.P503P|TCOF1_ENST00000513346.1_Silent_p.P580P|TCOF1_ENST00000451292.1_Silent_p.P580P			Q13428	TCOF_HUMAN	Treacher Collins-Franceschetti syndrome 1	580					skeletal system development (GO:0001501)|transcription of nuclear large rRNA transcript from RNA polymerase I promoter (GO:0042790)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|transporter activity (GO:0005215)	p.P580P(1)|p.P503P(1)		NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	35		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AGGCCAAACCCACCTCCAGTC	0.587																																						ENST00000451292.1																			2	Substitution - coding silent(2)	p.P580P(1)|p.P503P(1)	prostate(2)	NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	35						c.(1738-1740)ccC>ccT		Treacher Collins-Franceschetti syndrome 1							96	109	105					5																	149755319		2203	4300	6503	SO:0001819	synonymous_variant	6949				skeletal system development	nucleolus	protein binding|transporter activity	g.chr5:149755319C>T		CCDS4306.1, CCDS47305.1, CCDS47306.1, CCDS47307.1, CCDS54936.1	5q32	2014-06-18			ENSG00000070814	ENSG00000070814			11654	protein-coding gene	gene with protein product		606847				1765376	Standard	NM_001008657		Approved	treacle, TCS	uc003lry.3	Q13428	OTTHUMG00000130081	ENST00000504761.2:c.1740C>T	5.37:g.149755319C>T						TCOF1_ENST00000377797.3_Silent_p.P580P|TCOF1_ENST00000394269.3_Silent_p.P580P|TCOF1_ENST00000504761.2_Silent_p.P580P|TCOF1_ENST00000445265.2_Silent_p.P503P|TCOF1_ENST00000513346.1_Silent_p.P580P|TCOF1_ENST00000323668.7_Silent_p.P503P|TCOF1_ENST00000439160.2_Silent_p.P580P	p.P580P			Q13428	TCOF_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		12	1848	+		all_hematologic(541;0.224)	580					A0JLU0|B4E111|Q6SC72|Q7Z5W9|Q96A52|Q99408|Q99860	Silent	SNP	ENST00000504761.2	37	c.1740C>T	CCDS54936.1																																																																																				0.587	TCOF1-014	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000380552.1	NM_001008656		51	146	0	0	0	0.870114	0	51	146					T	149755319	C	T	149755319	2	4	22	1	0	0	0	0	0	0	0	1	15705	581	21	3		3	TCOF1	5	149755319	Silent	SNP	C	TCGA-CH-5750-01A-11D-1576-08	9036176	149755319	31159941	27	902											
RANBP17	64901	broad.mit.edu	37	chr5	170395294	170395294	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	accggattgcctcgatgttgTaatgagaaaatagagcttgc	12	11	11	7	2	0	2	0	1	0	2	1	5	0	3	2	1	3	3	2	1	4	5			TCGA-CH-5750-01A-11D-1576-08	TCGA-CH-5750-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b169c3-44e0-43e5-9ee3-2df7a678a5ea	69ebe1ab-c416-4473-8d82-91b475b206d4	g.chr5:170395294T>G	ENST00000523189.1	+	14	1787	c.1623T>G	c.(1621-1623)tgT>tgG	p.C541W		NM_022897.3	NP_075048.1	Q9H2T7	RBP17_HUMAN	RAN binding protein 17	541					mRNA transport (GO:0051028)|protein import into nucleus (GO:0006606)	cytoplasm (GO:0005737)|nuclear pore (GO:0005643)	GTP binding (GO:0005525)	p.C541W(1)		breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	50	Renal(175;0.000159)|Lung NSC(126;0.00751)|all_lung(126;0.0123)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			CTCGATGTTGTAATGAGAAAA	0.343			T	TRD@	ALL																																	ENST00000523189.1				Dom	yes		5	5q34	64901	T	RAN binding protein 17			L	TRD@		ALL		1	Substitution - Missense(1)	p.C541W(1)	prostate(1)	breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	50						c.(1621-1623)tgT>tgG		RAN binding protein 17							95	98	97					5																	170395294		2202	4299	6501	SO:0001583	missense	64901				mRNA transport|protein import into nucleus|transmembrane transport	cytoplasm|nuclear pore	GTP binding|protein transporter activity	g.chr5:170395294T>G	AF222747	CCDS34287.1	5q34	2009-01-12			ENSG00000204764	ENSG00000204764			14428	protein-coding gene	gene with protein product		606141				11024021	Standard	NM_022897		Approved		uc003mba.3	Q9H2T7	OTTHUMG00000163203	ENST00000523189.1:c.1623T>G	5.37:g.170395294T>G	ENSP00000427975:p.Cys541Trp						p.C541W	NM_022897.3	NP_075048.1	Q9H2T7	RBP17_HUMAN	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)		14	1787	+	Renal(175;0.000159)|Lung NSC(126;0.00751)|all_lung(126;0.0123)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	541					Q8IU74	Missense_Mutation	SNP	ENST00000523189.1	37	c.1623T>G	CCDS34287.1	.	.	.	.	.	.	.	.	.	.	T	3.627	-0.076333	0.07184	.	.	ENSG00000204764	ENST00000523189;ENST00000545246	T	0.66638	-0.22	5.37	0.267	0.15622	Armadillo-type fold (1);	0.492239	0.18208	N	0.148274	T	0.39091	0.1065	N	0.08118	0	0.24335	N	0.994983	B	0.09022	0.002	B	0.04013	0.001	T	0.21965	-1.0230	10	0.54805	T	0.06	-4.4545	4.271	0.10787	0.1491:0.3286:0.0:0.5223	.	541	Q9H2T7	RBP17_HUMAN	W	541;437	ENSP00000427975:C541W	ENSP00000373770:C541W	C	+	3	2	RANBP17	170327899	0.985000	0.35326	0.785000	0.31869	0.444000	0.32077	0.312000	0.19397	0.092000	0.17331	-0.468000	0.05107	TGT		0.343	RANBP17-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000372036.1	NM_022897		17	187	0	0	0	0.500413	0	17	187					G	170395294	T	G	170395294	3	3	22	1	0	0	0	0	1	0	0	0	13027	1644	57	5	1677	5	RANBP17	5	170395294	Missense_Mutation	SNP	T	TCGA-CH-5750-01A-11D-1576-08	20639975	170395294	10519966	28	903											
NKAPL	222698	broad.mit.edu	37	chr6	28227392	28227392	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctcccaagattccgcaactaCgccttcgcgtcctcctggtc	6	10	7	18	4	0	1	0	0	0	1	6	1	4	1	5	1	2	1	5	1	3	3			TCGA-CH-5750-01A-11D-1576-08	TCGA-CH-5750-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b169c3-44e0-43e5-9ee3-2df7a678a5ea	69ebe1ab-c416-4473-8d82-91b475b206d4	g.chr6:28227392C>T	ENST00000343684.3	+	1	295	c.243C>T	c.(241-243)taC>taT	p.Y81Y	ZKSCAN4_ENST00000423974.2_5'Flank	NM_001007531.1	NP_001007532.1	Q5M9Q1	NKAPL_HUMAN	NFKB activating protein-like	81								p.Y81Y(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31						TCCGCAACTACGCCTTCGCGT	0.587																																						ENST00000343684.3																			1	Substitution - coding silent(1)	p.Y81Y(1)	prostate(1)	breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31						c.(241-243)taC>taT		NFKB activating protein-like							55	57	56					6																	28227392		2203	4300	6503	SO:0001819	synonymous_variant	222698							g.chr6:28227392C>T	BC038240	CCDS34353.1	6p21.33	2008-02-05	2007-08-16	2007-08-16	ENSG00000189134	ENSG00000189134			21584	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 194"	C6orf194			Standard	NM_001007531		Approved	bA424I5.1	uc003nkt.4	Q5M9Q1	OTTHUMG00000014517	ENST00000343684.3:c.243C>T	6.37:g.28227392C>T							p.Y81Y	NM_001007531.1	NP_001007532.1	Q5M9Q1	NKAPL_HUMAN			1	295	+			81					Q3MIV1|Q9H4Q7	Silent	SNP	ENST00000343684.3	37	c.243C>T	CCDS34353.1																																																																																				0.587	NKAPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040185.1			39	80	0	0	0	0.804634	0	39	80					T	28227392	C	T	28227392	2	4	22	1	0	0	0	0	0	0	0	1	10440	547	19	1		1	NKAPL	6	28227392	Silent	SNP	C	TCGA-CH-5750-01A-11D-1576-08		28227392	142887675	29	904											
GSTA2	2939	broad.mit.edu	37	chr6	52616466	52616466	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gaatgtcagcccggctcagcTtgttgccaacaaggtagtct	9	10	11	11	1	3	0	2	0	1	0	3	1	3	0	2	2	4	4	2	2	4	3			TCGA-CH-5750-01A-11D-1576-08	TCGA-CH-5750-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b169c3-44e0-43e5-9ee3-2df7a678a5ea	69ebe1ab-c416-4473-8d82-91b475b206d4	g.chr6:52616466T>A	ENST00000493422.1	-	6	610	c.455A>T	c.(454-456)aAg>aTg	p.K152M		NM_000846.4	NP_000837.3	P09210	GSTA2_HUMAN	glutathione S-transferase alpha 2	152	GST C-terminal.				epithelial cell differentiation (GO:0030855)|glutathione derivative biosynthetic process (GO:1901687)|glutathione metabolic process (GO:0006749)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	glutathione transferase activity (GO:0004364)	p.K152M(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16	Lung NSC(77;0.118)				Azathioprine(DB00993)|Busulfan(DB01008)|Chloroquine(DB00608)|Clofibrate(DB00636)|Ethacrynic acid(DB00903)|Glutathione(DB00143)|Vitamin E(DB00163)	CCGGCTCAGCTTGTTGCCAAC	0.532																																						ENST00000493422.1																			1	Substitution - Missense(1)	p.K152M(1)	prostate(1)	breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						c.(454-456)aAg>aTg		glutathione S-transferase alpha 2	Aminophenazone(DB01424)|Amsacrine(DB00276)|Busulfan(DB01008)|Chlorambucil(DB00291)|Chloroquine(DB00608)|Cinnarizine(DB00568)|Clofibrate(DB00636)|Ethacrynic acid(DB00903)|Glutathione(DB00143)|Mechlorethamine(DB00888)|Praziquantel(DB01058)|Vitamin E(DB00163)						155	136	142					6																	52616466		2203	4300	6503	SO:0001583	missense	2939				glutathione metabolic process|xenobiotic metabolic process	cytosol	glutathione transferase activity	g.chr6:52616466T>A	AL109918	CCDS4944.1	6p12.2	2012-06-21	2008-11-26		ENSG00000244067	ENSG00000244067	2.5.1.18	"Glutathione S-transferases / Soluble"	4627	protein-coding gene	gene with protein product		138360	"glutathione S-transferase A2"	GST2			Standard	NM_000846		Approved		uc003pay.3	P09210	OTTHUMG00000016263	ENST00000493422.1:c.455A>T	6.37:g.52616466T>A	ENSP00000420168:p.Lys152Met						p.K152M	NM_000846.4	NP_000837.3	P09210	GSTA2_HUMAN			6	610	-	Lung NSC(77;0.118)		152			GST C-terminal.		Q12759|Q16491|Q9NTY6	Missense_Mutation	SNP	ENST00000493422.1	37	c.455A>T	CCDS4944.1	.	.	.	.	.	.	.	.	.	.	t	14.89	2.670650	0.47781	.	.	ENSG00000244067	ENST00000493422	T	0.02606	4.23	2.88	-1.36	0.09085	Glutathione S-transferase, C-terminal-like (2);Glutathione S-transferase/chloride channel, C-terminal (1);Glutathione S-transferase, C-terminal (1);	0.632453	0.15849	N	0.241620	T	0.06142	0.0159	M	0.91612	3.225	0.31802	N	0.628317	D	0.58970	0.984	P	0.60415	0.874	T	0.01283	-1.1396	10	0.87932	D	0	.	6.7808	0.23643	0.0:0.3384:0.0:0.6616	.	152	P09210	GSTA2_HUMAN	M	152	ENSP00000420168:K152M	ENSP00000420168:K152M	K	-	2	0	GSTA2	52724425	0.000000	0.05858	0.994000	0.49952	0.880000	0.50808	-1.530000	0.02221	-0.380000	0.07894	-0.425000	0.05940	AAG		0.532	GSTA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043589.1	NM_000846		63	146	0	0	0	0.870114	0	63	146					A	52616466	T	A	52616466	3	1	22	1	0	0	0	0	1	0	0	0	6831	1609	56	5	221	5	GSTA2	6	52616466	Missense_Mutation	SNP	T	TCGA-CH-5750-01A-11D-1576-08	24389074	52616466	118498601	30	905											
SIM1	6492	broad.mit.edu	37	chr6	100841663	100841663	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtgctgggagccaggcctatCggcggggtccagaagctgcg	6	6	18	11	3	0	1	0	0	0	1	2	2	1	2	3	5	4	2	3	5	2	1			TCGA-CH-5750-01A-11D-1576-08	TCGA-CH-5750-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b169c3-44e0-43e5-9ee3-2df7a678a5ea	69ebe1ab-c416-4473-8d82-91b475b206d4	g.chr6:100841663C>T	ENST00000369208.3	-	11	2052	c.1270G>A	c.(1270-1272)Gat>Aat	p.D424N	SIM1_ENST00000262901.4_Missense_Mutation_p.D424N			P81133	SIM1_HUMAN	single-minded family bHLH transcription factor 1	424	Single-minded C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00632}.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)|ureteric bud development (GO:0001657)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)	p.D424N(1)		breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	79		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0774)		CCAGGCCTATCGGCGGGGTCC	0.597																																						ENST00000369208.3																			1	Substitution - Missense(1)	p.D424N(1)	prostate(1)	breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	79						c.(1270-1272)Gat>Aat		single-minded family bHLH transcription factor 1							53	51	52					6																	100841663		2203	4300	6503	SO:0001583	missense	6492				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr6:100841663C>T	U70212	CCDS5045.1	6q16.3	2013-10-17	2013-10-17		ENSG00000112246	ENSG00000112246		"Basic helix-loop-helix proteins"	10882	protein-coding gene	gene with protein product		603128	"single-minded (Drosophila) homolog 1", "single-minded homolog 1 (Drosophila)"			9199934, 11448938	Standard	NM_005068		Approved	bHLHe14	uc003pqj.4	P81133	OTTHUMG00000015275	ENST00000369208.3:c.1270G>A	6.37:g.100841663C>T	ENSP00000358210:p.Asp424Asn					SIM1_ENST00000262901.4_Missense_Mutation_p.D424N	p.D424N			P81133	SIM1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0774)	11	2052	-		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)	424			Single-minded C-terminal.		Q5TDP7	Missense_Mutation	SNP	ENST00000369208.3	37	c.1270G>A	CCDS5045.1	.	.	.	.	.	.	.	.	.	.	C	24.0	4.480019	0.84747	.	.	ENSG00000112246	ENST00000369208;ENST00000262901	T;T	0.32272	1.46;1.46	5.78	5.78	0.91487	Single-minded, C-terminal (2);	0.680289	0.16276	N	0.221596	T	0.10680	0.0261	N	0.14661	0.345	0.42380	D	0.992487	B	0.34264	0.446	B	0.26693	0.072	T	0.13150	-1.0520	10	0.26408	T	0.33	.	20.0086	0.97443	0.0:1.0:0.0:0.0	.	424	P81133	SIM1_HUMAN	N	424	ENSP00000358210:D424N;ENSP00000262901:D424N	ENSP00000262901:D424N	D	-	1	0	SIM1	100948384	1.000000	0.71417	0.017000	0.16124	0.952000	0.60782	7.087000	0.76893	2.731000	0.93534	0.655000	0.94253	GAT		0.597	SIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041628.3	NM_005068		30	55	0	0	0	0.847076	0	30	55					T	100841663	C	T	100841663	3	4	22	1	0	0	0	0	1	0	0	0	14323	884	31	2	1038	2	SIM1	6	100841663	Missense_Mutation	SNP	C	TCGA-CH-5750-01A-11D-1576-08	48225197	100841663	70273404	31	906											
MICAL1	64780	broad.mit.edu	37	chr6	109766662	109766662	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctcctcctccttcgcacggCgcagcagagtccgacgccat	6	8	9	18	5	1	1	0	0	1	1	6	2	4	1	5	1	1	3	5	1	0	1	rs141002248		TCGA-CH-5750-01A-11D-1576-08	TCGA-CH-5750-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b169c3-44e0-43e5-9ee3-2df7a678a5ea	69ebe1ab-c416-4473-8d82-91b475b206d4	g.chr6:109766662C>T	ENST00000358807.3	-	21	3055	c.2744G>A	c.(2743-2745)cGc>cAc	p.R915H	MICAL1_ENST00000358577.3_Missense_Mutation_p.R829H|MICAL1_ENST00000368952.4_Missense_Mutation_p.R934H	NM_022765.3	NP_073602.3	Q8TDZ2	MICA1_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 1	915					actin filament depolymerization (GO:0030042)|cytoskeleton organization (GO:0007010)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of protein phosphorylation (GO:0001933)|oxidation-reduction process (GO:0055114)|signal transduction (GO:0007165)|sulfur oxidation (GO:0019417)	cytoplasm (GO:0005737)|intermediate filament (GO:0005882)	actin binding (GO:0003779)|FAD binding (GO:0071949)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen (GO:0016709)|SH3 domain binding (GO:0017124)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|liver(1)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40		all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149)		Epithelial(106;0.0142)|all cancers(137;0.0197)|OV - Ovarian serous cystadenocarcinoma(136;0.0233)|BRCA - Breast invasive adenocarcinoma(108;0.0574)		CTTCGCACGGCGCAGCAGAGT	0.562																																						ENST00000368952.4																			0				NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|liver(1)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40						c.(2800-2802)cGc>cAc		microtubule associated monooxygenase, calponin and LIM domain containing 1		C	HIS/ARG,HIS/ARG	0,4406		0,0,2203	93	98	96		2486,2744	4.6	1	6	dbSNP_134	96	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	MICAL1	NM_001159291.1,NM_022765.3	29,29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging	829/982,915/1068	109766662	1,13005	2203	4300	6503	SO:0001583	missense	64780				cytoskeleton organization|signal transduction	cytoplasm|intermediate filament	SH3 domain binding|zinc ion binding	g.chr6:109766662C>T	AB048948	CCDS5076.1, CCDS55047.1	6q21	2013-03-26	2013-03-26	2005-02-16	ENSG00000135596	ENSG00000135596			20619	protein-coding gene	gene with protein product		607129	"NEDD9 interacting protein with calponin homology and LIM domains"	NICAL		11827972	Standard	NM_022765		Approved	MICAL, FLJ11937, DKFZp434B1517, FLJ21739	uc003ptk.3	Q8TDZ2	OTTHUMG00000015350	ENST00000358807.3:c.2744G>A	6.37:g.109766662C>T	ENSP00000351664:p.Arg915His					MICAL1_ENST00000358807.3_Missense_Mutation_p.R915H|MICAL1_ENST00000358577.3_Missense_Mutation_p.R829H	p.R934H			Q8TDZ2	MICA1_HUMAN		Epithelial(106;0.0142)|all cancers(137;0.0197)|OV - Ovarian serous cystadenocarcinoma(136;0.0233)|BRCA - Breast invasive adenocarcinoma(108;0.0574)	21	3091	-		all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149)	915					B7Z3R5|E1P5F0|Q7Z633|Q8IVS9|Q96G47|Q9H6X6|Q9H7I0|Q9HAA1|Q9UFF7	Missense_Mutation	SNP	ENST00000358807.3	37	c.2801G>A	CCDS5076.1	.	.	.	.	.	.	.	.	.	.	C	24.4	4.525829	0.85600	0.0	1.16E-4	ENSG00000135596	ENST00000358807;ENST00000368952;ENST00000358577;ENST00000368957;ENST00000335266	T;T;T	0.59083	0.32;0.31;0.29	5.51	4.63	0.57726	.	0.000000	0.64402	D	0.000001	T	0.62925	0.2468	M	0.61703	1.905	0.40146	D	0.976894	D;D;D	0.89917	1.0;1.0;0.998	P;D;P	0.68039	0.877;0.955;0.738	T	0.68953	-0.5273	10	0.72032	D	0.01	.	12.3426	0.55103	0.0:0.8301:0.1699:0.0	.	934;829;915	B7Z3R5;Q8TDZ2-2;Q8TDZ2	.;.;MICA1_HUMAN	H	915;934;829;439;171	ENSP00000351664:R915H;ENSP00000357948:R934H;ENSP00000351385:R829H	ENSP00000335372:R171H	R	-	2	0	MICAL1	109873355	1.000000	0.71417	1.000000	0.80357	0.841000	0.47740	3.928000	0.56506	1.310000	0.45006	-0.176000	0.13171	CGC		0.562	MICAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041759.2	NM_022765		4	232	0	0	0	0.150653	0	4	232					T	109766662	C	T	109766662	3	4	22	1	0	0	0	0	1	0	0	0	9569	768	27	1	479	1	MICAL1	6	109766662	Missense_Mutation	SNP	C	TCGA-CH-5750-01A-11D-1576-08	8924999	109766662	61348405	32	907											
RFX6	222546	broad.mit.edu	37	chr6	117243256	117243256	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ggatctccttaagaagaatgCcactgtggaggcttttattg	10	13	11	7	0	1	2	0	0	1	2	2	4	1	4	2	3	1	1	2	3	4	4			TCGA-CH-5750-01A-11D-1576-08	TCGA-CH-5750-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b169c3-44e0-43e5-9ee3-2df7a678a5ea	69ebe1ab-c416-4473-8d82-91b475b206d4	g.chr6:117243256C>T	ENST00000332958.2	+	13	1395	c.1379C>T	c.(1378-1380)gCc>gTc	p.A460V		NM_173560.3	NP_775831.2	Q8HWS3	RFX6_HUMAN	regulatory factor X, 6	460					endocrine pancreas development (GO:0031018)|glucose homeostasis (GO:0042593)|pancreatic A cell differentiation (GO:0003310)|pancreatic D cell differentiation (GO:0003311)|pancreatic epsilon cell differentiation (GO:0090104)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of insulin secretion (GO:0050796)|transcription, DNA-templated (GO:0006351)|type B pancreatic cell differentiation (GO:0003309)	nucleus (GO:0005634)	transcription regulatory region DNA binding (GO:0044212)			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	59						AAGAAGAATGCCACTGTGGAG	0.333																																						ENST00000332958.2																			0				cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	59						c.(1378-1380)gCc>gTc		regulatory factor X, 6							102	106	104					6																	117243256		2203	4300	6503	SO:0001583	missense	222546				glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation	nucleus	protein binding|transcription regulatory region DNA binding	g.chr6:117243256C>T	BC039248	CCDS5113.1	6q22.31	2008-08-04	2008-08-04	2008-08-04	ENSG00000185002	ENSG00000185002			21478	protein-coding gene	gene with protein product		612659	"regulatory factor X domain containing 1"	RFXDC1			Standard	NM_173560		Approved	MGC33442, dJ955L16.1	uc003pxm.3	Q8HWS3	OTTHUMG00000015449	ENST00000332958.2:c.1379C>T	6.37:g.117243256C>T	ENSP00000332208:p.Ala460Val						p.A460V	NM_173560.3	NP_775831.2	Q8HWS3	RFX6_HUMAN			13	1395	+			460					Q5T6B3	Missense_Mutation	SNP	ENST00000332958.2	37	c.1379C>T	CCDS5113.1	.	.	.	.	.	.	.	.	.	.	C	30	5.054471	0.93793	.	.	ENSG00000185002	ENST00000332958	T	0.59364	0.27	5.19	5.19	0.71726	.	0.000000	0.85682	D	0.000000	T	0.72653	0.3487	M	0.76328	2.33	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	T	0.76526	-0.2927	10	0.87932	D	0	-13.8882	18.729	0.91728	0.0:1.0:0.0:0.0	.	460	Q8HWS3	RFX6_HUMAN	V	460	ENSP00000332208:A460V	ENSP00000332208:A460V	A	+	2	0	RFX6	117349949	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.440000	0.80464	2.434000	0.82447	0.585000	0.79938	GCC		0.333	RFX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041970.2	NM_173560		4	195	0	0	0	0.217242	0	4	195					T	117243256	C	T	117243256	3	4	22	1	0	0	0	0	1	0	0	0	13267	739	26	3	1429	3	RFX6	6	117243256	Missense_Mutation	SNP	C	TCGA-CH-5750-01A-11D-1576-08	7476594	117243256	53871811	33	908											
PNLDC1	154197	broad.mit.edu	37	chr6	160237001	160237001	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctatttttcttttccaatagTgacttgaatcccaccaagaa	12	15	4	10	0	1	3	0	2	1	1	3	3	3	3	3	0	0	0	3	0	6	7			TCGA-CH-5750-01A-11D-1576-08	TCGA-CH-5750-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b169c3-44e0-43e5-9ee3-2df7a678a5ea	69ebe1ab-c416-4473-8d82-91b475b206d4	g.chr6:160237001T>C	ENST00000610273.1	+	13	1134	c.963T>C	c.(961-963)agT>agC	p.S321S	PNLDC1_ENST00000392167.3_Splice_Site_p.S332S	NM_001271862.1|NM_173516.1	NP_001258791.1|NP_775787.1	Q8NA58	PNDC1_HUMAN	poly(A)-specific ribonuclease (PARN)-like domain containing 1	321						integral component of membrane (GO:0016021)|nucleus (GO:0005634)	nucleic acid binding (GO:0003676)	p.S321S(1)		autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(9)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	31		Breast(66;0.00519)|Ovarian(120;0.123)		OV - Ovarian serous cystadenocarcinoma(65;1.55e-18)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06)		TTTCCAATAGTGACTTGAATC	0.378																																						ENST00000275275.5																			1	Substitution - coding silent(1)	p.S321S(1)	prostate(1)	autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(9)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	31						c.e13-1		poly(A)-specific ribonuclease (PARN)-like domain containing 1							88	86	87					6																	160237001		2203	4300	6503	SO:0001630	splice_region_variant	154197					integral to membrane|nucleus	nucleic acid binding	g.chr6:160237001T>C	AK097559	CCDS5271.1, CCDS5271.2, CCDS64561.1	6q25.3	2008-02-05			ENSG00000146453	ENSG00000146453			21185	protein-coding gene	gene with protein product							Standard	NM_001271862		Approved	FLJ40240, dJ195P10.2	uc003qsy.2	Q8NA58	OTTHUMG00000015941	ENST00000610273.1:c.963-1T>C	6.37:g.160237001T>C						PNLDC1_ENST00000392167.3_Splice_Site_p.S332_splice	p.S321_splice	NM_001271862.1|NM_173516.1	NP_001258791.1|NP_775787.1	Q8NA58	PNDC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;1.55e-18)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06)	13	1134	+		Breast(66;0.00519)|Ovarian(120;0.123)	321					Q5TAP7|Q8N7X5	Splice_Site	SNP	ENST00000610273.1	37	c.962_splice	CCDS5271.1																																																																																				0.378	PNLDC1-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_173516	Silent	5	126	0	0	0	0.184627	0	5	126					C	160237001	T	C	160237001	5	2	22	1	0	0	0	0	0	0	1	0	12148	1710	59	4	1009	4	PNLDC1	6	160237001	Splice_Site	SNP	T	TCGA-CH-5750-01A-11D-1576-08	42993745	160237001	10878066	34	909											
NFE2L3	9603	broad.mit.edu	37	chr7	26224957	26224957	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agcgtgctaaagctttgcatAtccctttttctgtagatgaa	10	15	8	8	1	1	2	0	1	1	1	2	2	2	2	1	0	4	4	1	0	5	6	rs548939980		TCGA-CH-5750-01A-11D-1576-08	TCGA-CH-5750-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b169c3-44e0-43e5-9ee3-2df7a678a5ea	69ebe1ab-c416-4473-8d82-91b475b206d4	g.chr7:26224957A>T	ENST00000056233.3	+	4	1898	c.1639A>T	c.(1639-1641)Atc>Ttc	p.I547F		NM_004289.6	NP_004280.5	Q9Y4A8	NF2L3_HUMAN	nuclear factor, erythroid 2-like 3	547					transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)	p.I547F(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(5)|urinary_tract(7)	29						AGCTTTGCATATCCCTTTTTC	0.413																																						ENST00000056233.3																			1	Substitution - Missense(1)	p.I547F(1)	prostate(1)	breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(5)|urinary_tract(7)	29						c.(1639-1641)Atc>Ttc		nuclear factor, erythroid 2-like 3							129	117	121					7																	26224957		2203	4300	6503	SO:0001583	missense	9603				transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chr7:26224957A>T	AB010812	CCDS5396.1	7p15.2	2013-08-23	2013-08-23		ENSG00000050344	ENSG00000050344		"basic leucine zipper proteins"	7783	protein-coding gene	gene with protein product		604135	"nuclear factor (erythroid-derived 2)-like 3"			10037736	Standard	NM_004289		Approved	Nrf3	uc003sxq.3	Q9Y4A8	OTTHUMG00000023882	ENST00000056233.3:c.1639A>T	7.37:g.26224957A>T	ENSP00000056233:p.Ile547Phe						p.I547F	NM_004289.6	NP_004280.5	Q9Y4A8	NF2L3_HUMAN			4	1898	+			547					Q6NUS0|Q7Z498|Q86UJ4|Q86VR5|Q9UQA4	Missense_Mutation	SNP	ENST00000056233.3	37	c.1639A>T	CCDS5396.1	.	.	.	.	.	.	.	.	.	.	A	18.38	3.610948	0.66558	.	.	ENSG00000050344	ENST00000056233;ENST00000398175	T	0.47177	0.85	5.23	2.61	0.31194	Eukaryotic transcription factor, Skn-1-like, DNA-binding (2);	0.098210	0.64402	D	0.000002	T	0.68504	0.3008	M	0.89968	3.075	0.58432	D	0.999991	D	0.65815	0.995	P	0.60345	0.873	T	0.75869	-0.3165	10	0.87932	D	0	-10.989	12.1682	0.54141	0.734:0.266:0.0:0.0	.	547	Q9Y4A8	NF2L3_HUMAN	F	547;252	ENSP00000056233:I547F	ENSP00000056233:I547F	I	+	1	0	NFE2L3	26191482	0.999000	0.42202	0.544000	0.28141	0.880000	0.50808	4.145000	0.58065	0.907000	0.36646	0.482000	0.46254	ATC		0.413	NFE2L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214088.1			5	268	0	0	0	0.248553	0	5	268					T	26224957	A	T	26224957	3	4	22	1	0	0	0	0	1	0	0	0	10369	449	16	5	1653	5	NFE2L3	7	26224957	Missense_Mutation	SNP	A	TCGA-CH-5750-01A-11D-1576-08		26224957	132913706	35	910											
HIBADH	11112	broad.mit.edu	37	chr7	27565971	27565971	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctttgtgctggtagcagaGtcttgtgccaatcccagatc	7	13	10	11	0	2	2	0	0	2	2	4	2	3	2	2	1	3	3	2	1	2	3			TCGA-CH-5750-01A-11D-1576-08	TCGA-CH-5750-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b169c3-44e0-43e5-9ee3-2df7a678a5ea	69ebe1ab-c416-4473-8d82-91b475b206d4	g.chr7:27565971G>A	ENST00000265395.2	-	8	1079	c.873C>T	c.(871-873)gaC>gaT	p.D291D		NM_152740.3	NP_689953.1	P31937	3HIDH_HUMAN	3-hydroxyisobutyrate dehydrogenase	291					branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|pentose-phosphate shunt (GO:0006098)|small molecule metabolic process (GO:0044281)|valine catabolic process (GO:0006574)	mitochondrial matrix (GO:0005759)	3-hydroxyisobutyrate dehydrogenase activity (GO:0008442)|NAD binding (GO:0051287)|phosphogluconate dehydrogenase (decarboxylating) activity (GO:0004616)	p.D291D(1)		endometrium(4)|kidney(2)|lung(3)|ovary(2)|prostate(1)	12			GBM - Glioblastoma multiforme(3;0.0368)			TGGTAGCAGAGTCTTGTGCCA	0.468																																						ENST00000265395.2																			1	Substitution - coding silent(1)	p.D291D(1)	prostate(1)	endometrium(4)|kidney(2)|lung(3)|ovary(2)|prostate(1)	12						c.(871-873)gaC>gaT		3-hydroxyisobutyrate dehydrogenase	NADH(DB00157)						93	76	82					7																	27565971		2203	4300	6503	SO:0001819	synonymous_variant	11112				branched chain family amino acid catabolic process|pentose-phosphate shunt|valine metabolic process	mitochondrial matrix	3-hydroxyisobutyrate dehydrogenase activity|NAD binding|phosphogluconate dehydrogenase (decarboxylating) activity	g.chr7:27565971G>A	AF529362	CCDS5414.1	7p15	2009-06-12			ENSG00000106049	ENSG00000106049	1.1.1.31		4907	protein-coding gene	gene with protein product		608475					Standard	NM_152740		Approved	NS5ATP1	uc003szf.3	P31937	OTTHUMG00000097035	ENST00000265395.2:c.873C>T	7.37:g.27565971G>A							p.D291D	NM_152740.3	NP_689953.1	P31937	3HIDH_HUMAN	GBM - Glioblastoma multiforme(3;0.0368)		8	1079	-			291					Q546Z2|Q9UDN3	Silent	SNP	ENST00000265395.2	37	c.873C>T	CCDS5414.1																																																																																				0.468	HIBADH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214132.1	NM_152740		13	45	0	0	0	0.457914	0	13	45					A	27565971	G	A	27565971	2	1	22	1	0	0	0	0	0	0	0	1	7099	1020	36	3		3	HIBADH	7	27565971	Silent	SNP	G	TCGA-CH-5750-01A-11D-1576-08	1341014	27565971	131572692	36	911											
ANLN	54443	broad.mit.edu	37	chr7	36435954	36435954	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gcccacagcagctccaaggtCtatgactcatgctaagcgag	11	7	10	13	1	2	1	1	1	1	0	3	2	3	1	2	1	4	3	2	1	3	2			TCGA-CH-5750-01A-11D-1576-08	TCGA-CH-5750-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b169c3-44e0-43e5-9ee3-2df7a678a5ea	69ebe1ab-c416-4473-8d82-91b475b206d4	g.chr7:36435954C>G	ENST00000265748.2	+	2	319	c.98C>G	c.(97-99)tCt>tGt	p.S33C	ANLN_ENST00000396068.2_Missense_Mutation_p.S33C	NM_018685.2	NP_061155.2	Q9NQW6	ANLN_HUMAN	anillin, actin binding protein	33	Interaction with CD2AP.|Nuclear localization.|Required for ubiquitination.				hematopoietic progenitor cell differentiation (GO:0002244)|mitotic cytokinesis (GO:0000281)|mitotic nuclear division (GO:0007067)|regulation of exit from mitosis (GO:0007096)|septin ring assembly (GO:0000921)	actin cytoskeleton (GO:0015629)|actomyosin contractile ring (GO:0005826)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	actin binding (GO:0003779)	p.S33C(1)		breast(2)|endometrium(5)|kidney(5)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(2)	45						GCTCCAAGGTCTATGACTCAT	0.473																																						ENST00000265748.2																			1	Substitution - Missense(1)	p.S33C(1)	prostate(1)	breast(2)|endometrium(5)|kidney(5)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(2)	45						c.(97-99)tCt>tGt		anillin, actin binding protein							71	73	72					7																	36435954		2203	4300	6503	SO:0001583	missense	54443				cytokinesis|mitosis|regulation of exit from mitosis|septin ring assembly	actomyosin contractile ring|nucleus	actin binding	g.chr7:36435954C>G	AF273437	CCDS5447.1, CCDS64628.1	7p15-p14	2013-01-10	2006-08-22		ENSG00000011426	ENSG00000011426		"Pleckstrin homology (PH) domain containing"	14082	protein-coding gene	gene with protein product			"anillin (Drosophila Scraps homolog), actin binding protein", "anillin, actin binding protein (scraps homolog, Drosophila)"			10931866	Standard	NM_001284301		Approved	ANILLIN, Scraps, scra	uc003tff.3	Q9NQW6	OTTHUMG00000023143	ENST00000265748.2:c.98C>G	7.37:g.36435954C>G	ENSP00000265748:p.Ser33Cys					ANLN_ENST00000396068.2_Missense_Mutation_p.S33C	p.S33C	NM_018685.2	NP_061155.2	Q9NQW6	ANLN_HUMAN			2	319	+			33			Interaction with CD2AP.|Nuclear localization.|Required for ubiquitination.		Q5CZ78|Q6NSK5|Q9H8Y4|Q9NVN9|Q9NVP0	Missense_Mutation	SNP	ENST00000265748.2	37	c.98C>G	CCDS5447.1	.	.	.	.	.	.	.	.	.	.	C	19.14	3.768924	0.69878	.	.	ENSG00000011426	ENST00000265748;ENST00000396068;ENST00000424865;ENST00000418118	T;T;T	0.43688	0.94;0.94;3.98	5.67	4.74	0.60224	.	0.407990	0.28612	N	0.014724	T	0.57301	0.2044	M	0.65975	2.015	0.23162	N	0.998192	D;D;D	0.76494	0.998;0.999;0.998	P;P;P	0.62740	0.808;0.906;0.808	T	0.51148	-0.8742	10	0.56958	D	0.05	-16.3442	11.3455	0.49559	0.0:0.8024:0.1275:0.0701	.	33;33;33	A8K5D9;Q9NQW6-2;Q9NQW6	.;.;ANLN_HUMAN	C	33;33;11;11	ENSP00000265748:S33C;ENSP00000379380:S33C;ENSP00000404979:S11C	ENSP00000265748:S33C	S	+	2	0	ANLN	36402479	0.042000	0.20092	0.774000	0.31636	0.225000	0.24961	0.905000	0.28504	2.679000	0.91253	0.591000	0.81541	TCT		0.473	ANLN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218582.3	NM_018685		42	77	0	0	0	0.847076	0	42	77					G	36435954	C	G	36435954	3	3	22	1	0	0	0	0	1	0	0	0	694	913	32	5	104	5	ANLN	7	36435954	Missense_Mutation	SNP	C	TCGA-CH-5750-01A-11D-1576-08	8869983	36435954	122702709	37	912											
PHTF2	57157	broad.mit.edu	37	chr7	77469597	77469597	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cgtccaaagtcacagatgctAtagtctggtatcaaaagaag	15	9	9	8	1	3	2	2	0	1	2	4	2	4	2	1	1	1	2	1	1	7	3			TCGA-CH-5750-01A-11D-1576-08	TCGA-CH-5750-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b169c3-44e0-43e5-9ee3-2df7a678a5ea	69ebe1ab-c416-4473-8d82-91b475b206d4	g.chr7:77469597A>G	ENST00000248550.7	+	1	101	c.25A>G	c.(25-27)Ata>Gta	p.I9V	PHTF2_ENST00000416283.2_Missense_Mutation_p.I9V|PHTF2_ENST00000422959.2_Missense_Mutation_p.I9V|PHTF2_ENST00000450574.1_Missense_Mutation_p.I9V|PHTF2_ENST00000307305.8_Missense_Mutation_p.I9V|PHTF2_ENST00000424760.1_Missense_Mutation_p.I9V|PHTF2_ENST00000275575.7_Missense_Mutation_p.I9V|PHTF2_ENST00000415251.2_Missense_Mutation_p.I9V			Q8N3S3	PHTF2_HUMAN	putative homeodomain transcription factor 2	9					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.I9V(2)		endometrium(2)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)	19						CACAGATGCTATAGTCTGGTA	0.318																																						ENST00000416283.2																			2	Substitution - Missense(2)	p.I9V(2)	prostate(2)	endometrium(2)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)	19						c.(25-27)Ata>Gta		putative homeodomain transcription factor 2							137	130	132					7																	77469597		1844	4093	5937	SO:0001583	missense	57157				regulation of transcription, DNA-dependent|transcription, DNA-dependent	endoplasmic reticulum|nucleus	DNA binding	g.chr7:77469597A>G	AL136883	CCDS47621.1, CCDS47622.1, CCDS47623.1, CCDS47624.1	7q11.23-q21	2008-02-01			ENSG00000006576	ENSG00000006576			13411	protein-coding gene	gene with protein product						10729229	Standard	NM_020432		Approved	DKFZp434D166	uc003ugq.4	Q8N3S3	OTTHUMG00000155557	ENST00000248550.7:c.25A>G	7.37:g.77469597A>G	ENSP00000248550:p.Ile9Val					PHTF2_ENST00000422959.2_Missense_Mutation_p.I9V|PHTF2_ENST00000275575.7_Missense_Mutation_p.I9V|PHTF2_ENST00000450574.1_Missense_Mutation_p.I9V|PHTF2_ENST00000415251.2_Missense_Mutation_p.I9V|PHTF2_ENST00000248550.7_Missense_Mutation_p.I9V|PHTF2_ENST00000424760.1_Missense_Mutation_p.I9V|PHTF2_ENST00000307305.8_Missense_Mutation_p.I9V	p.I9V	NM_001127357.1|NM_020432.4	NP_001120829.1|NP_065165.3	Q8N3S3	PHTF2_HUMAN			1	151	+			9					A0JP04|A0JP05|A4D1C2|E9PEE3|G5E9H7|Q6NW35|Q8TBW4|Q9H099	Missense_Mutation	SNP	ENST00000248550.7	37	c.25A>G		.	.	.	.	.	.	.	.	.	.	A	9.159	1.018293	0.19355	.	.	ENSG00000006576	ENST00000427986;ENST00000422959;ENST00000307305;ENST00000424760;ENST00000415251;ENST00000275575;ENST00000450574;ENST00000416283;ENST00000248550	.	.	.	5.69	4.55	0.56014	.	0.195634	0.44688	D	0.000422	T	0.38026	0.1025	N	0.08118	0	0.38251	D	0.941606	B;B;B;B;B;B;B	0.17465	0.0;0.0;0.022;0.002;0.0;0.0;0.019	B;B;B;B;B;B;B	0.20384	0.0;0.001;0.029;0.002;0.0;0.013;0.016	T	0.33033	-0.9884	9	0.87932	D	0	-1.0009	11.2795	0.49186	0.9281:0.0:0.0719:0.0	.	9;9;9;9;9;9;9	Q8N3S3-4;Q8N3S3-2;Q8N3S3;G5E9H7;Q8N3S3-3;B3KQZ2;E9PEE3	.;.;PHTF2_HUMAN;.;.;.;.	V	9	.	ENSP00000248550:I9V	I	+	1	0	PHTF2	77307533	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.550000	0.67268	0.997000	0.38969	0.533000	0.62120	ATA		0.318	PHTF2-006	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000340638.2	NM_020432		73	125	0	0	0	0.870114	0	73	125					G	77469597	A	G	77469597	3	3	22	1	0	0	0	0	1	0	0	0	11863	449	16	4	27	4	PHTF2	7	77469597	Missense_Mutation	SNP	A	TCGA-CH-5750-01A-11D-1576-08	41033643	77469597	81669066	38	913											
MUC17	140453	broad.mit.edu	37	chr7	100682744	100682744	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ctgctgaaggtagcagcatgCcaacctcaactcctggtgaa	11	8	10	12	0	1	2	1	2	0	0	2	2	2	2	3	2	6	4	3	2	5	1	rs71286275		TCGA-CH-5750-01A-11D-1576-08	TCGA-CH-5750-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b169c3-44e0-43e5-9ee3-2df7a678a5ea	69ebe1ab-c416-4473-8d82-91b475b206d4	g.chr7:100682744C>T	ENST00000306151.4	+	3	8111	c.8047C>T	c.(8047-8049)Cca>Tca	p.P2683S		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	2683	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)	p.P2683S(1)		NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					TAGCAGCATGCCAACCTCAAC	0.493																																						ENST00000306151.4																			1	Substitution - Missense(1)	p.P2683S(1)	urinary_tract(1)	NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343						c.(8047-8049)Cca>Tca		mucin 17, cell surface associated							225	230	228					7																	100682744		2203	4300	6503	SO:0001583	missense	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100682744C>T	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"Mucins"	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.8047C>T	7.37:g.100682744C>T	ENSP00000302716:p.Pro2683Ser						p.P2683S	NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN			3	8111	+	Lung NSC(181;0.136)|all_lung(186;0.182)		2683			59 X approximate tandem repeats.|Ser-rich.		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	c.8047C>T	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	C	4.606	0.112671	0.08831	.	.	ENSG00000169876	ENST00000306151	T	0.01854	4.6	0.911	-1.82	0.07857	.	.	.	.	.	T	0.01730	0.0055	N	0.04880	-0.145	0.09310	N	1	D	0.57571	0.98	P	0.59424	0.857	T	0.25745	-1.0123	9	0.08599	T	0.76	.	0.3885	0.00406	0.2439:0.3108:0.2431:0.2021	.	2683	Q685J3	MUC17_HUMAN	S	2683	ENSP00000302716:P2683S	ENSP00000302716:P2683S	P	+	1	0	MUC17	100469464	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-2.262000	0.01175	-0.688000	0.05155	0.134000	0.15878	CCA		0.493	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		5	490	0	0	0	0.217242	0	5	490					T	100682744	C	T	100682744	3	4	22	1	0	0	0	0	1	0	0	0	9974	739	26	3	8057	3	MUC17	7	100682744	Missense_Mutation	SNP	C	TCGA-CH-5750-01A-11D-1576-08	23213147	100682744	58455919	39	914											
SERPINE1	5054	broad.mit.edu	37	chr7	100780352	100780352	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cccttcctctttgtggtccgGcacaaccccacaggtgagcc	6	9	9	17	1	1	1	0	1	1	0	3	1	3	1	6	3	2	1	6	3	1	2			TCGA-CH-5750-01A-11D-1576-08	TCGA-CH-5750-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b169c3-44e0-43e5-9ee3-2df7a678a5ea	69ebe1ab-c416-4473-8d82-91b475b206d4	g.chr7:100780352G>A	ENST00000223095.4	+	8	1315	c.1158G>A	c.(1156-1158)cgG>cgA	p.R386R	SERPINE1_ENST00000445463.2_Silent_p.R371R	NM_000602.4	NP_000593.1	P05121	PAI1_HUMAN	serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1	386					angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cellular response to lipopolysaccharide (GO:0071222)|chronological cell aging (GO:0001300)|defense response to Gram-negative bacterium (GO:0050829)|extracellular matrix organization (GO:0030198)|fibrinolysis (GO:0042730)|gene expression (GO:0010467)|negative regulation of blood coagulation (GO:0030195)|negative regulation of cell adhesion mediated by integrin (GO:0033629)|negative regulation of cell migration (GO:0030336)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of fibrinolysis (GO:0051918)|negative regulation of plasminogen activation (GO:0010757)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of smooth muscle cell-matrix adhesion (GO:2000098)|negative regulation of vascular wound healing (GO:0061044)|negative regulation of wound healing (GO:0061045)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood coagulation (GO:0030194)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of leukotriene production involved in inflammatory response (GO:0035491)|positive regulation of monocyte chemotaxis (GO:0090026)|positive regulation of receptor-mediated endocytosis (GO:0048260)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell proliferation (GO:0042127)|regulation of receptor activity (GO:0010469)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	protease binding (GO:0002020)|serine-type endopeptidase inhibitor activity (GO:0004867)	p.R386R(1)		central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(3)	20	Lung NSC(181;0.136)|all_lung(186;0.182)				Alteplase(DB00009)|Anistreplase(DB00029)|Drotrecogin alfa(DB00055)|Reteplase(DB00015)|Tenecteplase(DB00031)|Urokinase(DB00013)	TTGTGGTCCGGCACAACCCCA	0.542																																						ENST00000223095.4																			1	Substitution - coding silent(1)	p.R386R(1)	kidney(1)	central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(3)	20						c.(1156-1158)cgG>cgA		serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1	Atorvastatin(DB01076)|Dimethyl sulfoxide(DB01093)|Drotrecogin alfa(DB00055)|Simvastatin(DB00641)|Tenecteplase(DB00031)|Troglitazone(DB00197)|Urokinase(DB00013)						134	114	120					7																	100780352		2203	4300	6503	SO:0001819	synonymous_variant	5054				angiogenesis|cellular response to chemical stimulus|cellular response to lipopolysaccharide|chronological cell aging|defense response to Gram-negative bacterium|fibrinolysis|negative regulation of apoptosis|negative regulation of cell adhesion mediated by integrin|negative regulation of fibrinolysis|negative regulation of plasminogen activation|negative regulation of smooth muscle cell migration|negative regulation of smooth muscle cell-matrix adhesion|negative regulation of vascular wound healing|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of interleukin-8 production|positive regulation of leukotriene production involved in inflammatory response|positive regulation of monocyte chemotaxis|positive regulation of receptor-mediated endocytosis|regulation of receptor activity	extracellular matrix|extracellular space|plasma membrane|platelet alpha granule lumen	protease binding|serine-type endopeptidase inhibitor activity	g.chr7:100780352G>A	M16006	CCDS5711.1	7q22.1	2014-02-18	2005-08-18		ENSG00000106366	ENSG00000106366		"Serine (or cysteine) peptidase inhibitors"	8583	protein-coding gene	gene with protein product	"plasminogen activator inhibitor, type I"	173360	"serine (or cysteine) proteinase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1"	PLANH1, PAI1		3097076, 2891140, 24172014	Standard	NM_000602		Approved	PAI	uc003uxt.4	P05121	OTTHUMG00000157107	ENST00000223095.4:c.1158G>A	7.37:g.100780352G>A						SERPINE1_ENST00000445463.2_Silent_p.R371R	p.R386R	NM_000602.4	NP_000593.1	P05121	PAI1_HUMAN			8	1315	+	Lung NSC(181;0.136)|all_lung(186;0.182)		386					B7Z4S0|F8WD53	Silent	SNP	ENST00000223095.4	37	c.1158G>A	CCDS5711.1																																																																																				0.542	SERPINE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347458.1	NM_000602		4	189	0	0	0	0.184627	0	4	189					A	100780352	G	A	100780352	2	1	22	1	0	0	0	0	0	0	0	1	14111	1190	42	3		3	SERPINE1	7	100780352	Silent	SNP	G	TCGA-CH-5750-01A-11D-1576-08	97608	100780352	58358311	40	915											
ADAM9	8754	broad.mit.edu	37	chr8	38899534	38899534	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	actttaaataaaggaggaaaCtgccttcttaatattccaaa	17	12	5	7	0	1	0	0	0	1	0	2	2	2	2	2	2	2	0	2	2	8	7			TCGA-CH-5750-01A-11D-1576-08	TCGA-CH-5750-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b169c3-44e0-43e5-9ee3-2df7a678a5ea	69ebe1ab-c416-4473-8d82-91b475b206d4	g.chr8:38899534C>A	ENST00000487273.2	+	12	1278	c.1200C>A	c.(1198-1200)aaC>aaA	p.N400K		NM_003816.2	NP_003807.1	Q13443	ADAM9_HUMAN	ADAM metallopeptidase domain 9	400	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				activation of MAPKK activity (GO:0000186)|cell adhesion (GO:0007155)|cell adhesion mediated by integrin (GO:0033627)|cell-cell adhesion mediated by integrin (GO:0033631)|cell-matrix adhesion (GO:0007160)|cellular response to lipopolysaccharide (GO:0071222)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|keratinocyte differentiation (GO:0030216)|membrane protein ectodomain proteolysis (GO:0006509)|monocyte activation (GO:0042117)|PMA-inducible membrane protein ectodomain proteolysis (GO:0051088)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of keratinocyte migration (GO:0051549)|positive regulation of macrophage fusion (GO:0034241)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|positive regulation of protein secretion (GO:0050714)|response to calcium ion (GO:0051592)|response to glucocorticoid (GO:0051384)|response to hydrogen peroxide (GO:0042542)|response to laminar fluid shear stress (GO:0034616)|response to manganese ion (GO:0010042)|response to tumor necrosis factor (GO:0034612)|transforming growth factor beta receptor signaling pathway (GO:0007179)	basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intrinsic component of external side of plasma membrane (GO:0031233)	collagen binding (GO:0005518)|integrin binding (GO:0005178)|laminin binding (GO:0043236)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|protein kinase C binding (GO:0005080)|SH3 domain binding (GO:0017124)|zinc ion binding (GO:0008270)	p.N400K(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		all_lung(54;0.00292)|Lung NSC(58;0.0115)|Hepatocellular(245;0.0153)	LUSC - Lung squamous cell carcinoma(45;2.74e-07)			AAGGAGGAAACTGCCTTCTTA	0.408																																						ENST00000487273.2																			1	Substitution - Missense(1)	p.N400K(1)	prostate(1)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						c.(1198-1200)aaC>aaA		ADAM metallopeptidase domain 9							90	93	92					8																	38899534		2203	4300	6503	SO:0001583	missense	8754				activation of MAPKK activity|cell-cell adhesion mediated by integrin|cell-matrix adhesion|keratinocyte differentiation|monocyte activation|PMA-inducible membrane protein ectodomain proteolysis|positive regulation of cell adhesion mediated by integrin|positive regulation of keratinocyte migration|positive regulation of macrophage fusion|positive regulation of membrane protein ectodomain proteolysis|positive regulation of protein secretion|response to calcium ion|response to glucocorticoid stimulus|response to hydrogen peroxide|response to manganese ion|response to tumor necrosis factor|transforming growth factor beta receptor signaling pathway	extracellular space|integral to membrane|intrinsic to external side of plasma membrane	collagen binding|integrin binding|laminin binding|metalloendopeptidase activity|protein kinase C binding|SH3 domain binding|zinc ion binding	g.chr8:38899534C>A	U41766	CCDS6112.1	8p11.23	2011-03-18	2010-06-24		ENSG00000168615	ENSG00000168615		"ADAM metallopeptidase domain containing"	216	protein-coding gene	gene with protein product	"meltrin gamma"	602713	"a disintegrin and metalloproteinase domain 9 (meltrin gamma)", "cone rod dystrophy 9"	CORD9		8647900, 11581183, 19409519	Standard	NR_027638		Approved	MDC9, KIAA0021, MCMP, Mltng	uc003xmr.3	Q13443	OTTHUMG00000159783	ENST00000487273.2:c.1200C>A	8.37:g.38899534C>A	ENSP00000419446:p.Asn400Lys						p.N400K	NM_003816.2	NP_003807.1	Q13443	ADAM9_HUMAN	LUSC - Lung squamous cell carcinoma(45;2.74e-07)		12	1278	+		all_lung(54;0.00292)|Lung NSC(58;0.0115)|Hepatocellular(245;0.0153)	400			Peptidase M12B.		B7ZLN7|Q10718|Q8NFM6	Missense_Mutation	SNP	ENST00000487273.2	37	c.1200C>A	CCDS6112.1	.	.	.	.	.	.	.	.	.	.	C	10.86	1.469829	0.26423	.	.	ENSG00000168615	ENST00000487273	T	0.61392	0.11	6.05	1.77	0.24775	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.476947	0.25558	N	0.029849	T	0.29556	0.0737	N	0.04746	-0.17	0.35723	D	0.81733	B	0.17465	0.022	B	0.25759	0.063	T	0.34601	-0.9822	10	0.02654	T	1	.	10.3124	0.43716	0.0:0.5863:0.0:0.4137	.	400	Q13443	ADAM9_HUMAN	K	400	ENSP00000419446:N400K	ENSP00000369249:N400K	N	+	3	2	ADAM9	39018691	0.880000	0.30214	1.000000	0.80357	0.989000	0.77384	0.024000	0.13555	0.451000	0.26802	-0.145000	0.13849	AAC		0.408	ADAM9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357291.2			7	121	1	0	2.0095e-06	0.248553	2.19013e-06	7	121					A	38899534	C	A	38899534	3	1	22	1	0	0	0	0	1	0	0	0	253	564	20	5	1246	5	ADAM9	8	38899534	Missense_Mutation	SNP	C	TCGA-CH-5750-01A-11D-1576-08		38899534	107464488	41	916											
SOX17	64321	broad.mit.edu	37	chr8	55371662	55371662	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggcggagaagcggcccttcGtggaggaggcagagcggctg	7	5	20	9	4	0	2	0	0	0	2	1	5	0	4	1	7	2	2	1	7	1	1			TCGA-CH-5750-01A-11D-1576-08	TCGA-CH-5750-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b169c3-44e0-43e5-9ee3-2df7a678a5ea	69ebe1ab-c416-4473-8d82-91b475b206d4	g.chr8:55371662G>A	ENST00000297316.4	+	2	556	c.352G>A	c.(352-354)Gtg>Atg	p.V118M		NM_022454.3	NP_071899.1	Q9H6I2	SOX17_HUMAN	SRY (sex determining region Y)-box 17	118					angiogenesis (GO:0001525)|canonical Wnt signaling pathway (GO:0060070)|cardiac cell fate determination (GO:0060913)|cardiogenic plate morphogenesis (GO:0003142)|cell migration involved in gastrulation (GO:0042074)|common bile duct development (GO:0061009)|embryonic foregut morphogenesis (GO:0048617)|embryonic heart tube development (GO:0035050)|embryonic heart tube morphogenesis (GO:0003143)|endocardial cell differentiation (GO:0060956)|endocardium formation (GO:0060214)|endoderm formation (GO:0001706)|endodermal cell fate determination (GO:0007493)|endodermal digestive tract morphogenesis (GO:0061031)|gall bladder development (GO:0061010)|heart formation (GO:0060914)|heart looping (GO:0001947)|inner cell mass cellular morphogenesis (GO:0001828)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell growth (GO:0030308)|negative regulation of mesodermal cell fate specification (GO:0042662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of Wnt signaling pathway involved in heart development (GO:0003308)|outflow tract morphogenesis (GO:0003151)|positive regulation of cell differentiation (GO:0045597)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of skeletal muscle tissue development (GO:0048643)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein destabilization (GO:0031648)|protein stabilization (GO:0050821)|regulation of cardiac cell fate specification (GO:2000043)|regulation of embryonic development (GO:0045995)|regulation of stem cell division (GO:2000035)|regulation of stem cell proliferation (GO:0072091)|regulation of transcription from RNA polymerase II promoter involved in definitive endodermal cell fate specification (GO:0060807)|regulation of transcription, DNA-templated (GO:0006355)|renal system development (GO:0072001)|rostrocaudal neural tube patterning (GO:0021903)|signal transduction involved in regulation of gene expression (GO:0023019)|spermatogenesis (GO:0007283)|stem cell fate specification (GO:0048866)|vasculogenesis (GO:0001570)	nuclear transcription factor complex (GO:0044798)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	beta-catenin binding (GO:0008013)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)	p.V118M(1)		endometrium(6)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)	18		Lung NSC(129;0.109)|all_epithelial(80;0.176)|all_lung(136;0.181)	OV - Ovarian serous cystadenocarcinoma(7;1.9e-07)|Epithelial(17;1.7e-05)|all cancers(17;0.000159)			GCGGCCCTTCGTGGAGGAGGC	0.687																																						ENST00000297316.4																			1	Substitution - Missense(1)	p.V118M(1)	prostate(1)	endometrium(6)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)	18						c.(352-354)Gtg>Atg		SRY (sex determining region Y)-box 17							19	18	18					8																	55371662		2187	4280	6467	SO:0001583	missense	64321				angiogenesis|cardiac cell fate determination|endocardial cell differentiation|endocardium formation|endoderm formation|heart formation|heart looping|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell growth|outflow tract morphogenesis|positive regulation of transcription, DNA-dependent|protein destabilization|protein stabilization|regulation of embryonic development|renal system development|vasculogenesis|Wnt receptor signaling pathway	transcription factor complex	beta-catenin binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription factor binding|transcription regulatory region DNA binding	g.chr8:55371662G>A	AB073988	CCDS6159.1	8q11.23	2014-09-04			ENSG00000164736	ENSG00000164736		"SRY (sex determining region Y)-boxes"	18122	protein-coding gene	gene with protein product		610928				11786926	Standard	NM_022454		Approved		uc003xsb.4	Q9H6I2	OTTHUMG00000164377	ENST00000297316.4:c.352G>A	8.37:g.55371662G>A	ENSP00000297316:p.Val118Met						p.V118M	NM_022454.3	NP_071899.1	Q9H6I2	SOX17_HUMAN	OV - Ovarian serous cystadenocarcinoma(7;1.9e-07)|Epithelial(17;1.7e-05)|all cancers(17;0.000159)		2	556	+		Lung NSC(129;0.109)|all_epithelial(80;0.176)|all_lung(136;0.181)	118						Missense_Mutation	SNP	ENST00000297316.4	37	c.352G>A	CCDS6159.1	.	.	.	.	.	.	.	.	.	.	G	28.1	4.888873	0.91814	.	.	ENSG00000164736	ENST00000297316	D	0.98044	-4.68	4.03	4.03	0.46877	High mobility group, superfamily (1);High mobility group, HMG1/HMG2 (4);	0.000000	0.85682	D	0.000000	D	0.98115	0.9378	L	0.53617	1.68	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.99441	1.0938	10	0.87932	D	0	.	16.3544	0.83230	0.0:0.0:1.0:0.0	.	118	Q9H6I2	SOX17_HUMAN	M	118	ENSP00000297316:V118M	ENSP00000297316:V118M	V	+	1	0	SOX17	55534215	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	6.340000	0.72973	2.087000	0.62958	0.455000	0.32223	GTG		0.687	SOX17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378526.2			4	7	0	0	0	0.217242	0	4	7					A	55371662	G	A	55371662	3	1	22	1	0	0	0	0	1	0	0	0	14947	1145	40	1	358	1	SOX17	8	55371662	Missense_Mutation	SNP	G	TCGA-CH-5750-01A-11D-1576-08	16472128	55371662	90992360	42	917											
CSMD3	114788	broad.mit.edu	37	chr8	113657357	113657357	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttttccatgggttacatcAacagtccatgtacaattcag	11	13	6	11	0	2	0	2	0	0	0	4	0	4	0	3	1	3	2	3	1	4	5			TCGA-CH-5750-01A-11D-1576-08	TCGA-CH-5750-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b169c3-44e0-43e5-9ee3-2df7a678a5ea	69ebe1ab-c416-4473-8d82-91b475b206d4	g.chr8:113657357A>T	ENST00000297405.5	-	20	3535	c.3291T>A	c.(3289-3291)gtT>gtA	p.V1097V	CSMD3_ENST00000352409.3_Silent_p.V1097V|CSMD3_ENST00000455883.2_Silent_p.V993V|CSMD3_ENST00000343508.3_Silent_p.V1057V|MIR2053_ENST00000459295.1_RNA	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1097	CUB 6. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.V1097V(2)|p.V1057V(1)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						GGGTTACATCAACAGTCCATG	0.363										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												ENST00000297405.5																			3	Substitution - coding silent(3)	p.V1097V(2)|p.V1057V(1)	lung(2)|prostate(1)	breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						c.(3289-3291)gtT>gtA		CUB and Sushi multiple domains 3							93	92	92					8																	113657357		2203	4300	6503	SO:0001819	synonymous_variant	114788					integral to membrane|plasma membrane		g.chr8:113657357A>T	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.3291T>A	8.37:g.113657357A>T		HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_ENST00000455883.2_Silent_p.V993V|CSMD3_ENST00000343508.3_Silent_p.V1057V|CSMD3_ENST00000352409.3_Silent_p.V1097V	p.V1097V	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN			20	3535	-			1097			CUB 6.		Q96PZ3	Silent	SNP	ENST00000297405.5	37	c.3291T>A	CCDS6315.1																																																																																				0.363	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		4	112	0	0	0	0.150653	0	4	112					T	113657357	A	T	113657357	2	4	22	1	0	0	0	0	0	0	0	1	3946	117	5	5		5	CSMD3	8	113657357	Silent	SNP	A	TCGA-CH-5750-01A-11D-1576-08	58285695	113657357	32706665	43	918											
GOLM1	51280	broad.mit.edu	37	chr9	88650293	88650293	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcacacccaccttccccggcAgcttcctgctcctcctcctg	4	10	5	22	1	1	0	1	0	0	0	6	0	6	0	8	1	2	3	8	1	0	2			TCGA-CH-5750-01A-11D-1576-08	TCGA-CH-5750-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b169c3-44e0-43e5-9ee3-2df7a678a5ea	69ebe1ab-c416-4473-8d82-91b475b206d4	g.chr9:88650293A>G	ENST00000388712.3	-	8	1173	c.1005T>C	c.(1003-1005)gcT>gcC	p.A335A	GOLM1_ENST00000257504.6_5'Flank|GOLM1_ENST00000388711.3_Silent_p.A335A	NM_016548.3	NP_057632.2	Q8NBJ4	GOLM1_HUMAN	golgi membrane protein 1	335					nucleus organization (GO:0006997)|regulation of lipid metabolic process (GO:0019216)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)		p.A335A(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	17						CTTCCCCGGCAGCTTCCTGCT	0.622											OREG0019278	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000388712.3																			1	Substitution - coding silent(1)	p.A335A(1)	prostate(1)	breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	17						c.(1003-1005)gcT>gcC		golgi membrane protein 1							56	64	61					9																	88650293		2203	4300	6503	SO:0001819	synonymous_variant	51280					Golgi apparatus|integral to plasma membrane		g.chr9:88650293A>G	AF236056	CCDS35054.1	9q21.33	2012-12-13	2007-07-30	2007-07-30	ENSG00000135052	ENSG00000135052			15451	protein-coding gene	gene with protein product		606804	"golgi phosphoprotein 2", "chromosome 9 open reading frame 155"	GOLPH2, C9orf155		10831838, 18953438, 22542941	Standard	NM_016548		Approved	GP73, FLJ23608, bA379P1.3	uc004aol.3	Q8NBJ4	OTTHUMG00000020130	ENST00000388712.3:c.1005T>C	9.37:g.88650293A>G			OREG0019278	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1261	GOLM1_ENST00000388711.3_Silent_p.A335A	p.A335A	NM_016548.3	NP_057632.2	Q8NBJ4	GOLM1_HUMAN			8	1173	-			335					Q6IAF4|Q9NRB9	Silent	SNP	ENST00000388712.3	37	c.1005T>C	CCDS35054.1																																																																																				0.622	GOLM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052904.2	NM_177937		5	180	0	0	0	0.217242	0	5	180					G	88650293	A	G	88650293	2	3	22	1	0	0	0	0	0	0	0	1	6567	175	7	4		4	GOLM1	9	88650293	Silent	SNP	A	TCGA-CH-5750-01A-11D-1576-08		88650293	52563138	44	919											
TBC1D2	55357	broad.mit.edu	37	chr9	100971252	100971252	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgcagtagctgcttgagctcGgctgagggcacaagatcgcc	8	7	14	12	3	0	3	0	2	0	1	2	3	0	3	1	2	3	7	1	2	2	2			TCGA-CH-5750-01A-11D-1576-08	TCGA-CH-5750-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b169c3-44e0-43e5-9ee3-2df7a678a5ea	69ebe1ab-c416-4473-8d82-91b475b206d4	g.chr9:100971252G>A	ENST00000375064.1	-	9	1886	c.1848C>T	c.(1846-1848)gcC>gcT	p.A616A	TBC1D2_ENST00000493589.2_5'UTR|TBC1D2_ENST00000375066.5_Silent_p.A616A|TBC1D2_ENST00000375063.1_Silent_p.A156A|TBC1D2_ENST00000342112.5_Silent_p.A398A	NM_001267571.1	NP_001254500.1	Q9BYX2	TBD2A_HUMAN	TBC1 domain family, member 2	616					positive regulation of Rab GTPase activity (GO:0032851)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)	cadherin binding (GO:0045296)|Rab GTPase activator activity (GO:0005097)	p.A616A(1)		breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;2.55e-37)		GCTTGAGCTCGGCTGAGGGCA	0.667																																						ENST00000375066.5																			1	Substitution - coding silent(1)	p.A616A(1)	prostate(1)	breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24						c.(1846-1848)gcC>gcT		TBC1 domain family, member 2							58	63	61					9																	100971252		2203	4300	6503	SO:0001819	synonymous_variant	55357					cell junction|cytoplasmic membrane-bounded vesicle|nucleus	Rab GTPase activator activity	g.chr9:100971252G>A	AY026527	CCDS35080.1, CCDS59137.1, CCDS75865.1	9q22.32	2011-11-30			ENSG00000095383	ENSG00000095383			18026	protein-coding gene	gene with protein product	"prostate antigen recognized and identified by SEREX"	609871					Standard	NM_018421		Approved	PARIS1, TBC1D2A, Armus	uc011lvb.2	Q9BYX2	OTTHUMG00000020343	ENST00000375064.1:c.1848C>T	9.37:g.100971252G>A						TBC1D2_ENST00000493589.2_5'UTR|TBC1D2_ENST00000342112.5_Silent_p.A398A|TBC1D2_ENST00000375063.1_Silent_p.A156A|TBC1D2_ENST00000375064.1_Silent_p.A616A	p.A616A	NM_018421.3	NP_060891.3	Q9BYX2	TBD2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(323;2.55e-37)	9	1939	-		Myeloproliferative disorder(762;0.0255)	616					B3KWD1|B4DQ05|B9A6J7|Q59EU0|Q5TBQ5|Q6IPC7|Q7L1K8|Q8WYT1|Q9H6A2|Q9NSH4	Silent	SNP	ENST00000375064.1	37	c.1848C>T																																																																																					0.667	TBC1D2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000053366.1	NM_018421		5	147	0	0	0	0.184627	0	5	147					A	100971252	G	A	100971252	2	1	22	1	0	0	0	0	0	0	0	1	15605	1103	39	2		2	TBC1D2	9	100971252	Silent	SNP	G	TCGA-CH-5750-01A-11D-1576-08	12320959	100971252	40242179	45	920											
KIF12	113220	broad.mit.edu	37	chr9	116858374	116858374	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgctgttagcctcaagcatCagctccccacgggatcccgt	8	9	9	15	2	2	0	2	0	0	0	4	1	4	1	4	1	4	4	4	1	2	1			TCGA-CH-5750-01A-11D-1576-08	TCGA-CH-5750-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b169c3-44e0-43e5-9ee3-2df7a678a5ea	69ebe1ab-c416-4473-8d82-91b475b206d4	g.chr9:116858374C>A	ENST00000374118.3	-	6	675	c.438G>T	c.(436-438)ctG>ctT	p.L146L	KIF12_ENST00000473174.1_Intron	NM_138424.1	NP_612433.1	Q96FN5	KIF12_HUMAN	kinesin family member 12	279	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.L146L(1)		breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	17						CCTCAAGCATCAGCTCCCCAC	0.622																																						ENST00000374118.3																			1	Substitution - coding silent(1)	p.L146L(1)	prostate(1)	breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	17						c.(436-438)ctG>ctT		kinesin family member 12							55	61	59					9																	116858374		2203	4300	6503	SO:0001819	synonymous_variant	113220				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr9:116858374C>A	BC010626	CCDS6801.1	9q33.1	2008-02-05			ENSG00000136883	ENSG00000136883		"Kinesins"	21495	protein-coding gene	gene with protein product		611278					Standard	NM_138424		Approved		uc004bif.3	Q96FN5	OTTHUMG00000020533	ENST00000374118.3:c.438G>T	9.37:g.116858374C>A						KIF12_ENST00000473174.1_Intron	p.L146L	NM_138424.1	NP_612433.1	Q96FN5	KIF12_HUMAN			6	675	-			279			Kinesin-motor.		Q5TBE0	Silent	SNP	ENST00000374118.3	37	c.438G>T	CCDS6801.1																																																																																				0.622	KIF12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053751.1	NM_138424		33	147	1	0	1.69901e-12	0.812448	1.91633e-12	33	147					A	116858374	C	A	116858374	2	1	22	1	0	0	0	0	0	0	0	1	8273	813	29	5		5	KIF12	9	116858374	Silent	SNP	C	TCGA-CH-5750-01A-11D-1576-08	15887122	116858374	24355057	46	921											
FAM171A1	221061	broad.mit.edu	37	chr10	15317865	15317865	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	taaatataccttggaatcctGatactatttggacgacatct	13	14	6	8	1	1	1	0	1	1	0	2	4	2	3	2	2	2	0	2	2	7	7			TCGA-CH-5750-01A-11D-1576-08	TCGA-CH-5750-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b169c3-44e0-43e5-9ee3-2df7a678a5ea	69ebe1ab-c416-4473-8d82-91b475b206d4	g.chr10:15317865G>A	ENST00000378116.4	-	3	413	c.407C>T	c.(406-408)tCa>tTa	p.S136L		NM_001010924.1	NP_001010924.1	Q5VUB5	F1711_HUMAN	family with sequence similarity 171, member A1	136						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)		p.S136L(2)		breast(6)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	52						TTGGAATCCTGATACTATTTG	0.343																																						ENST00000378116.4																			2	Substitution - Missense(2)	p.S136L(2)	prostate(2)	breast(6)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	52						c.(406-408)tCa>tTa		family with sequence similarity 171, member A1							55	62	59					10																	15317865		2203	4300	6503	SO:0001583	missense	221061					integral to membrane		g.chr10:15317865G>A	AK022946	CCDS31154.1	10p13	2008-06-16	2008-06-16	2008-06-16	ENSG00000148468	ENSG00000148468			23522	protein-coding gene	gene with protein product			"chromosome 10 open reading frame 38"	C10orf38			Standard	NM_001010924		Approved	FLJ12884	uc001iob.3	Q5VUB5	OTTHUMG00000017732	ENST00000378116.4:c.407C>T	10.37:g.15317865G>A	ENSP00000367356:p.Ser136Leu						p.S136L	NM_001010924.1	NP_001010924.1	Q5VUB5	F1711_HUMAN			3	413	-			136					D3DRT9|Q32M49|Q8N4I0	Missense_Mutation	SNP	ENST00000378116.4	37	c.407C>T	CCDS31154.1	.	.	.	.	.	.	.	.	.	.	G	13.56	2.272626	0.40194	.	.	ENSG00000148468	ENST00000378116;ENST00000378114;ENST00000396781;ENST00000455654	T;T	0.33654	1.4;1.4	5.41	5.41	0.78517	.	0.139206	0.50627	D	0.000107	T	0.48150	0.1484	L	0.38953	1.18	0.80722	D	1	D	0.63046	0.992	D	0.66196	0.942	T	0.19943	-1.0290	10	0.13470	T	0.59	-13.0809	19.2008	0.93711	0.0:0.0:1.0:0.0	.	136	Q5VUB5	F1711_HUMAN	L	136;136;137;136	ENSP00000367356:S136L;ENSP00000407796:S136L	ENSP00000367354:S136L	S	-	2	0	FAM171A1	15357871	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.125000	0.94402	2.516000	0.84829	0.585000	0.79938	TCA		0.343	FAM171A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046984.1	XM_167709		19	92	0	0	0	0.557998	0	19	92					A	15317865	G	A	15317865	3	1	22	1	0	0	0	0	1	0	0	0	5490	1294	45	3	2289	3	FAM171A1	10	15317865	Missense_Mutation	SNP	G	TCGA-CH-5750-01A-11D-1576-08		15317865	120216882	47	922											
NCOA4	8031	broad.mit.edu	37	chr10	51584845	51584845	+	Missense_Mutation	SNP	G	G	A																															ccaggaatcccataagctgcGgaagcctgagaatggcagtc																								rs144343467		TCGA-CH-5750-01A-11D-1576-08	TCGA-CH-5750-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b169c3-44e0-43e5-9ee3-2df7a678a5ea	69ebe1ab-c416-4473-8d82-91b475b206d4	g.chr10:51584845G>A	ENST00000443446.1	+	8	1173	c.944G>A	c.(943-945)cGg>cAg	p.R315Q	NCOA4_ENST00000344348.6_Missense_Mutation_p.R315Q|NCOA4_ENST00000374082.1_Missense_Mutation_p.R315Q|NCOA4_ENST00000374087.4_Missense_Mutation_p.R315Q|NCOA4_ENST00000452682.1_Missense_Mutation_p.R331Q|NCOA4_ENST00000414907.2_Missense_Mutation_p.R149Q|NCOA4_ENST00000438493.1_Missense_Mutation_p.R331Q|NCOA4_ENST00000430396.2_Missense_Mutation_p.R215Q	NM_001145262.1	NP_001138734.1	Q13772	NCOA4_HUMAN	nuclear receptor coactivator 4	315					androgen receptor signaling pathway (GO:0030521)|male gonad development (GO:0008584)|positive regulation of transcription, DNA-templated (GO:0045893)|response to hormone (GO:0009725)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|transcription coactivator activity (GO:0003713)	p.R331Q(1)		NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|skin(1)	5						CATAAGCTGCGGAAGCCTGAG	0.453			T	RET	papillary thyroid																																	ENST00000452682.1				Dom	yes		10	10q11.2	8031	T	nuclear receptor coactivator 4 - PTC3 (ELE1)			E	RET		papillary thyroid		1	Substitution - Missense(1)	p.R331Q(1)	prostate(1)	NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|skin(1)	5						c.(991-993)cGg>cAg		nuclear receptor coactivator 4		G	GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG	0,4406		0,0,2203	82	82	82		992,992,944,944,944	2.3	0.7	10	dbSNP_134	82	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense,missense	NCOA4	NM_001145260.1,NM_001145261.1,NM_001145262.1,NM_001145263.1,NM_005437.3	43,43,43,43,43	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign,benign,benign,benign,benign	331/651,331/631,315/615,315/615,315/615	51584845	1,13005	2203	4300	6503	SO:0001583	missense	8031				androgen receptor signaling pathway|male gonad development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	androgen receptor binding|transcription coactivator activity	g.chr10:51584845G>A	L49399	CCDS73092.1, CCDS73093.1, CCDS73094.1	10q11.2	2014-04-10			ENSG00000138293	ENSG00000266412			7671	protein-coding gene	gene with protein product	"RET-activating gene ELE1"	601984				8290261, 8643607, 24695223	Standard	NM_001145260		Approved	ARA70, RFG, ELE1, PTC3, DKFZp762E1112	uc009xon.3	Q13772	OTTHUMG00000188314	ENST00000443446.1:c.944G>A	10.37:g.51584845G>A	ENSP00000390713:p.Arg315Gln					NCOA4_ENST00000374082.1_Missense_Mutation_p.R315Q|NCOA4_ENST00000443446.1_Missense_Mutation_p.R315Q|NCOA4_ENST00000438493.1_Missense_Mutation_p.R331Q|NCOA4_ENST00000344348.6_Missense_Mutation_p.R315Q|NCOA4_ENST00000430396.2_Missense_Mutation_p.R215Q|NCOA4_ENST00000374087.4_Missense_Mutation_p.R315Q|NCOA4_ENST00000414907.2_Missense_Mutation_p.R149Q	p.R331Q	NM_001145260.1	NP_001138732.1	Q13772	NCOA4_HUMAN			9	1244	+			315					A8K8W5|B4E260|E9PAV7|J3KQN8|Q14239	Missense_Mutation	SNP	ENST00000443446.1	37	c.992G>A	CCDS7237.1	.	.	.	.	.	.	.	.	.	.	G	3.892	-0.023768	0.07634	0.0	1.16E-4	ENSG00000138293	ENST00000438493;ENST00000452682;ENST00000430396;ENST00000374087;ENST00000414907;ENST00000344348;ENST00000374082;ENST00000443446	T;T;T;T;T;T;T;T	0.26518	1.73;1.73;1.73;1.73;1.73;1.73;1.73;1.73	4.64	2.28	0.28536	.	0.474612	0.20926	N	0.083197	T	0.09774	0.0240	N	0.08118	0	0.09310	N	0.999995	B;B;B;B	0.10296	0.003;0.001;0.001;0.0	B;B;B;B	0.08055	0.003;0.001;0.001;0.001	T	0.27054	-1.0085	9	.	.	.	-3.2217	3.5436	0.07820	0.7001:0.0:0.106:0.1939	.	215;331;331;315	B4DF87;B4E260;E9PAV7;Q13772	.;.;.;NCOA4_HUMAN	Q	331;331;215;315;149;315;315;315	ENSP00000405146:R331Q;ENSP00000395465:R331Q;ENSP00000393053:R215Q;ENSP00000363200:R315Q;ENSP00000411018:R149Q;ENSP00000344552:R315Q;ENSP00000363195:R315Q;ENSP00000390713:R315Q	.	R	+	2	0	NCOA4	51254851	0.632000	0.27172	0.674000	0.29902	0.103000	0.19146	0.678000	0.25277	0.499000	0.27970	-0.302000	0.09304	CGG		0.453	NCOA4-204	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048052.1	NM_005437		6	165	0	0	0	0.248553	0	6	165					A	51584845	G	A	51584845	3	1	22	1	0	0	0	0	1	0	0	0	10231	1116	39	2	1022	2	NCOA4	10	51584845	Missense_Mutation	SNP	G	TCGA-CH-5750-01A-11D-1576-08	36266980	51584845	83949902	48	923	3	2									
NCOA4	8031	broad.mit.edu	37	chr10	51584846	51584846	+	Silent	SNP	G	G	A																															caggaatcccataagctgcgGaagcctgagaatggcagtcg																										TCGA-CH-5750-01A-11D-1576-08	TCGA-CH-5750-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b169c3-44e0-43e5-9ee3-2df7a678a5ea	69ebe1ab-c416-4473-8d82-91b475b206d4	g.chr10:51584846G>A	ENST00000443446.1	+	8	1174	c.945G>A	c.(943-945)cgG>cgA	p.R315R	NCOA4_ENST00000344348.6_Silent_p.R315R|NCOA4_ENST00000374082.1_Silent_p.R315R|NCOA4_ENST00000374087.4_Silent_p.R315R|NCOA4_ENST00000452682.1_Silent_p.R331R|NCOA4_ENST00000414907.2_Silent_p.R149R|NCOA4_ENST00000438493.1_Silent_p.R331R|NCOA4_ENST00000430396.2_Silent_p.R215R	NM_001145262.1	NP_001138734.1	Q13772	NCOA4_HUMAN	nuclear receptor coactivator 4	315					androgen receptor signaling pathway (GO:0030521)|male gonad development (GO:0008584)|positive regulation of transcription, DNA-templated (GO:0045893)|response to hormone (GO:0009725)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|transcription coactivator activity (GO:0003713)	p.R331R(1)		NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|skin(1)	5						ATAAGCTGCGGAAGCCTGAGA	0.453			T	RET	papillary thyroid																																	ENST00000452682.1				Dom	yes		10	10q11.2	8031	T	nuclear receptor coactivator 4 - PTC3 (ELE1)			E	RET		papillary thyroid		1	Substitution - coding silent(1)	p.R331R(1)	prostate(1)	NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|skin(1)	5						c.(991-993)cgG>cgA		nuclear receptor coactivator 4							82	82	82					10																	51584846		2203	4300	6503	SO:0001819	synonymous_variant	8031				androgen receptor signaling pathway|male gonad development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	androgen receptor binding|transcription coactivator activity	g.chr10:51584846G>A	L49399	CCDS73092.1, CCDS73093.1, CCDS73094.1	10q11.2	2014-04-10			ENSG00000138293	ENSG00000266412			7671	protein-coding gene	gene with protein product	"RET-activating gene ELE1"	601984				8290261, 8643607, 24695223	Standard	NM_001145260		Approved	ARA70, RFG, ELE1, PTC3, DKFZp762E1112	uc009xon.3	Q13772	OTTHUMG00000188314	ENST00000443446.1:c.945G>A	10.37:g.51584846G>A						NCOA4_ENST00000374082.1_Silent_p.R315R|NCOA4_ENST00000443446.1_Silent_p.R315R|NCOA4_ENST00000438493.1_Silent_p.R331R|NCOA4_ENST00000344348.6_Silent_p.R315R|NCOA4_ENST00000430396.2_Silent_p.R215R|NCOA4_ENST00000374087.4_Silent_p.R315R|NCOA4_ENST00000414907.2_Silent_p.R149R	p.R331R	NM_001145260.1	NP_001138732.1	Q13772	NCOA4_HUMAN			9	1245	+			315					A8K8W5|B4E260|E9PAV7|J3KQN8|Q14239	Silent	SNP	ENST00000443446.1	37	c.993G>A	CCDS7237.1	.	.	.	.	.	.	.	.	.	.	G	0.852	-0.738392	0.03111	.	.	ENSG00000138293	ENST00000431200	.	.	.	4.64	3.74	0.42951	.	.	.	.	.	T	0.58708	0.2141	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.56300	-0.8002	4	.	.	.	-3.2217	8.7354	0.34525	0.1002:0.0:0.8998:0.0	.	.	.	.	K	231	.	.	E	+	1	0	NCOA4	51254852	0.976000	0.34144	0.967000	0.41034	0.196000	0.23810	2.202000	0.42743	1.564000	0.49628	0.655000	0.94253	GAA		0.453	NCOA4-204	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048052.1	NM_005437		6	164	0	0	0	0.248553	0	6	164					A	51584846	G	A	51584846	2	1	22	1	0	0	0	0	0	0	0	1	10231	1161	41	3		3	NCOA4	10	51584846	Silent	SNP	G	TCGA-CH-5750-01A-11D-1576-08	1	51584846	83949901	49	924	3	2									
CTSD	1509	broad.mit.edu	37	chr11	1776178	1776178	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggccttgcgggtgacattcAggtaggacagagaacccttg	10	8	14	9	1	1	2	1	1	0	1	1	4	1	3	2	4	2	1	2	4	2	4			TCGA-CH-5750-01A-11D-1576-08	TCGA-CH-5750-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b169c3-44e0-43e5-9ee3-2df7a678a5ea	69ebe1ab-c416-4473-8d82-91b475b206d4	g.chr11:1776178A>G	ENST00000236671.2	-	6	917	c.785T>C	c.(784-786)cTg>cCg	p.L262P	RP11-295K3.1_ENST00000427721.1_Nonstop_Mutation_p.*133R	NM_001909.4	NP_001900.1	P07339	CATD_HUMAN	cathepsin D	262					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|autophagic vacuole assembly (GO:0000045)|cell death (GO:0008219)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)|mitochondrion (GO:0005739)	aspartic-type endopeptidase activity (GO:0004190)			endometrium(1)|large_intestine(4)|lung(8)	13		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00136)|Lung(200;0.0684)|LUSC - Lung squamous cell carcinoma(625;0.0822)	"""Insulin(DB00071)|Insulin Regular(DB00030)"	GGTGACATTCAGGTAGGACAG	0.622																																						ENST00000427721.1																			0											c.(397-399)Tga>Cga									110	97	102					11																	1776178		2202	4299	6501	SO:0001583	missense	0							g.chr11:1776178A>G	M11233	CCDS7725.1	11p15.5	2009-06-26	2006-12-05		ENSG00000117984	ENSG00000117984	3.4.23.5	"Cathepsins"	2529	protein-coding gene	gene with protein product	"ceroid-lipofuscinosis, neuronal 10"	116840	"cathepsin D (lysosomal aspartyl protease)"	CPSD		3927292	Standard	NM_001909		Approved	CLN10	uc001luc.2	P07339	OTTHUMG00000044760	ENST00000236671.2:c.785T>C	11.37:g.1776178A>G	ENSP00000236671:p.Leu262Pro					CTSD_ENST00000236671.2_Missense_Mutation_p.L262P	p.*133R							3	396	-								Q6IB57	Nonstop_Mutation	SNP	ENST00000236671.2	37	c.397T>C	CCDS7725.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	a|a	15.92|15.92	2.975941|2.975941	0.53720|0.53720	.|.	.|.	ENSG00000117984|ENSG00000250644	ENST00000236671;ENST00000438213|ENST00000427721	T;T|.	0.60920|.	0.15;0.24|.	4.25|4.25	-2.11|-2.11	0.07187|0.07187	Peptidase aspartic (1);Peptidase aspartic, catalytic (1);|.	0.222926|.	0.36740|.	N|.	0.002436|.	T|.	0.74726|.	0.3754|.	M|M	0.88377|0.88377	2.95|2.95	0.58432|0.58432	D|D	0.999996|0.999996	D|.	0.65815|.	0.995|.	D|.	0.70016|.	0.967|.	T|.	0.75584|.	-0.3267|.	10|.	0.72032|.	D|.	0.01|.	.|.	10.7337|10.7337	0.46111|0.46111	0.4619:0.0:0.0:0.5381|0.4619:0.0:0.0:0.5381	.|.	262|.	P07339|.	CATD_HUMAN|.	P|R	262;247|133	ENSP00000236671:L262P;ENSP00000415036:L247P|.	ENSP00000236671:L262P|.	L|X	-|-	2|1	0|0	CTSD|RP11-295K3.1	1732754|1732754	0.844000|0.844000	0.29557|0.29557	0.665000|0.665000	0.29768|0.29768	0.584000|0.584000	0.36387|0.36387	2.404000|2.404000	0.44539|0.44539	-0.472000|-0.472000	0.06881|0.06881	0.374000|0.374000	0.22700|0.22700	CTG|TGA		0.622	CTSD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000104272.5	NM_001909		3	133	0	0	0	0.150653	0	3	133					G	1776178	A	G	1776178	3	3	22	1	0	0	0	0	1	0	0	0	4032	188	7	4	469	4	CTSD	11	1776178	Missense_Mutation	SNP	A	TCGA-CH-5750-01A-11D-1576-08		1776178	133230338	50	925											
OR10G8	219869	broad.mit.edu	37	chr11	123900990	123900990	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctgtcctatgtgtccatcGtctgttccatcctgcggatc	4	15	9	13	2	1	0	0	0	1	0	7	1	5	1	4	1	2	2	4	1	1	2			TCGA-CH-5750-01A-11D-1576-08	TCGA-CH-5750-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b169c3-44e0-43e5-9ee3-2df7a678a5ea	69ebe1ab-c416-4473-8d82-91b475b206d4	g.chr11:123900990G>A	ENST00000431524.1	+	1	694	c.661G>A	c.(661-663)Gtc>Atc	p.V221I		NM_001004464.1	NP_001004464.1	Q8NGN5	O10G8_HUMAN	olfactory receptor, family 10, subfamily G, member 8	221						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V221I(1)		breast(1)|endometrium(7)|large_intestine(2)|lung(21)|ovary(1)|prostate(5)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	44		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		TGTGTCCATCGTCTGTTCCAT	0.542																																						ENST00000431524.1																			1	Substitution - Missense(1)	p.V221I(1)	prostate(1)	breast(1)|endometrium(7)|large_intestine(2)|lung(21)|ovary(1)|prostate(5)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	44						c.(661-663)Gtc>Atc		olfactory receptor, family 10, subfamily G, member 8							171	148	156					11																	123900990		2201	4299	6500	SO:0001583	missense	219869				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:123900990G>A	AB065755	CCDS31704.1	11q24.1	2012-08-09			ENSG00000234560	ENSG00000234560		"GPCR / Class A : Olfactory receptors"	14845	protein-coding gene	gene with protein product							Standard	NM_001004464		Approved		uc001pzp.1	Q8NGN5	OTTHUMG00000165968	ENST00000431524.1:c.661G>A	11.37:g.123900990G>A	ENSP00000389072:p.Val221Ile						p.V221I	NM_001004464.1	NP_001004464.1	Q8NGN5	O10G8_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)	1	694	+		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	221					B2RNJ3|Q6IEV2	Missense_Mutation	SNP	ENST00000431524.1	37	c.661G>A	CCDS31704.1	.	.	.	.	.	.	.	.	.	.	G	0.010	-1.747167	0.00669	.	.	ENSG00000234560	ENST00000431524	T	0.00048	8.82	2.91	-0.148	0.13424	GPCR, rhodopsin-like superfamily (1);	0.317250	0.22424	N	0.060258	T	0.00073	0.0002	N	0.05534	-0.03	0.09310	N	1	B	0.15930	0.015	B	0.21360	0.034	T	0.16600	-1.0397	10	0.33940	T	0.23	.	3.2637	0.06858	0.4226:0.0:0.2966:0.2808	.	221	Q8NGN5	O10G8_HUMAN	I	221	ENSP00000389072:V221I	ENSP00000389072:V221I	V	+	1	0	OR10G8	123406200	0.000000	0.05858	0.019000	0.16419	0.001000	0.01503	-1.743000	0.01834	-0.156000	0.11079	-1.011000	0.02470	GTC		0.542	OR10G8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387270.1	NM_001004464		11	183	0	0	0	0.38729	0	11	183					A	123900990	G	A	123900990	3	1	22	1	0	0	0	0	1	0	0	0	10903	1145	40	1	663	1	OR10G8	11	123900990	Missense_Mutation	SNP	G	TCGA-CH-5750-01A-11D-1576-08	122124812	123900990	11105526	51	926											
FGD4	121512	broad.mit.edu	37	chr12	32764089	32764089	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aggagaacctaaagaaactcTtagagatttatgaaatgttg	17	11	9	4	0	1	4	0	1	1	3	1	6	1	4	1	1	2	1	1	1	7	5			TCGA-CH-5750-01A-11D-1576-08	TCGA-CH-5750-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b169c3-44e0-43e5-9ee3-2df7a678a5ea	69ebe1ab-c416-4473-8d82-91b475b206d4	g.chr12:32764089T>C	ENST00000427716.2	+	10	1634	c.1210T>C	c.(1210-1212)Tta>Cta	p.L404L	FGD4_ENST00000381025.3_Silent_p.L156L|FGD4_ENST00000534526.2_Silent_p.L541L|FGD4_ENST00000546442.1_Silent_p.L311L|FGD4_ENST00000525053.1_Silent_p.L516L|FGD4_ENST00000266482.3_Silent_p.L156L|FGD4_ENST00000531134.1_Silent_p.L489L	NM_139241.2	NP_640334.2	Q96M96	FGD4_HUMAN	FYVE, RhoGEF and PH domain containing 4	404					actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|lamellipodium assembly (GO:0030032)|microspike assembly (GO:0030035)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|ruffle (GO:0001726)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|small GTPase binding (GO:0031267)	p.L404L(2)		breast(1)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	27	Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)					AAAGAAACTCTTAGAGATTTA	0.353																																						ENST00000427716.2																			2	Substitution - coding silent(2)	p.L404L(2)	prostate(2)	breast(1)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	27						c.(1210-1212)Tta>Cta		FYVE, RhoGEF and PH domain containing 4							89	94	92					12																	32764089		2203	4300	6503	SO:0001819	synonymous_variant	121512				actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|filopodium|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding	g.chr12:32764089T>C	AK057294	CCDS8727.1	12p11.1	2014-09-17	2004-08-24		ENSG00000139132	ENSG00000139132		"Zinc fingers, FYVE domain containing", "Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	19125	protein-coding gene	gene with protein product		611104	"FGD1 family, member 4"			11527409	Standard	NM_139241		Approved	FRABP, frabin, ZFYVE6, CMT4H	uc001rkz.3	Q96M96	OTTHUMG00000137374	ENST00000427716.2:c.1210T>C	12.37:g.32764089T>C						FGD4_ENST00000546442.1_Silent_p.L311L|FGD4_ENST00000534526.2_Silent_p.L541L|FGD4_ENST00000525053.1_Silent_p.L516L|FGD4_ENST00000381025.3_Silent_p.L156L|FGD4_ENST00000531134.1_Silent_p.L489L|FGD4_ENST00000266482.3_Silent_p.L156L	p.L404L	NM_139241.2	NP_640334.2	Q96M96	FGD4_HUMAN			10	1634	+	Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)		404					Q6ULS2|Q8TCP6	Silent	SNP	ENST00000427716.2	37	c.1210T>C	CCDS8727.1																																																																																				0.353	FGD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268017.1	NM_139241		4	196	0	0	0	0.184627	0	4	196					C	32764089	T	C	32764089	2	2	22	1	0	0	0	0	0	0	0	1	5835	1606	56	4		4	FGD4	12	32764089	Silent	SNP	T	TCGA-CH-5750-01A-11D-1576-08		32764089	101087806	52	927											
PIWIL1	9271	broad.mit.edu	37	chr12	130845793	130845793	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aaaaaatacctgtgtacagaTtgccctaccccaagtcagtg	14	9	7	11	0	1	1	1	0	0	1	1	1	1	1	4	0	4	1	4	0	7	4			TCGA-CH-5750-01A-11D-1576-08	TCGA-CH-5750-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b169c3-44e0-43e5-9ee3-2df7a678a5ea	69ebe1ab-c416-4473-8d82-91b475b206d4	g.chr12:130845793T>G	ENST00000245255.3	+	15	2006	c.1734T>G	c.(1732-1734)gaT>gaG	p.D578E		NM_001190971.1|NM_004764.4	NP_001177900.1|NP_004755.2	Q96J94	PIWL1_HUMAN	piwi-like RNA-mediated gene silencing 1	578	Piwi. {ECO:0000255|PROSITE- ProRule:PRU00150}.|RNA-binding. {ECO:0000250}.				gene silencing by RNA (GO:0031047)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|piRNA metabolic process (GO:0034587)|regulation of translation (GO:0006417)|spermatid development (GO:0007286)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|mRNA cap binding complex (GO:0005845)|P granule (GO:0043186)|polysome (GO:0005844)	mRNA binding (GO:0003729)|piRNA binding (GO:0034584)|single-stranded RNA binding (GO:0003727)	p.D578E(1)		breast(6)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(26)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	57	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;3.02e-06)|Epithelial(86;3.85e-05)|all cancers(50;4.65e-05)		TGTGTACAGATTGCCCTACCC	0.433																																						ENST00000245255.3																			1	Substitution - Missense(1)	p.D578E(1)	prostate(1)	breast(6)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(26)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	57						c.(1732-1734)gaT>gaG		piwi-like RNA-mediated gene silencing 1							95	89	91					12																	130845793		2203	4300	6503	SO:0001583	missense	9271				gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatid development	chromatoid body|P granule	mRNA binding|piRNA binding|protein binding	g.chr12:130845793T>G	AF104260	CCDS9268.1	12q24.33	2014-01-21	2013-02-15		ENSG00000125207	ENSG00000125207		"Argonaute/PIWI family"	9007	protein-coding gene	gene with protein product		605571	"piwi (Drosophila)-like 1", "piwi-like 1 (Drosophila)"			9851978, 12906857	Standard	NM_004764		Approved	PIWI, HIWI, CT80.1	uc001uik.3	Q96J94	OTTHUMG00000168382	ENST00000245255.3:c.1734T>G	12.37:g.130845793T>G	ENSP00000245255:p.Asp578Glu						p.D578E	NM_001190971.1|NM_004764.4	NP_001177900.1|NP_004755.2	Q96J94	PIWL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.02e-06)|Epithelial(86;3.85e-05)|all cancers(50;4.65e-05)	15	2006	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		578			Piwi.|RNA-binding (By similarity).		A4F266|O95404|Q8NA60|Q8TBY5|Q96JD5	Missense_Mutation	SNP	ENST00000245255.3	37	c.1734T>G	CCDS9268.1	.	.	.	.	.	.	.	.	.	.	T	15.02	2.710517	0.48517	.	.	ENSG00000125207	ENST00000245255	T	0.13657	2.57	5.43	-1.3	0.09259	Stem cell self-renewal protein Piwi (3);Ribonuclease H-like (1);	0.090437	0.85682	D	0.000000	T	0.10035	0.0246	N	0.21282	0.65	0.58432	D	0.999992	B;B	0.30824	0.195;0.296	B;B	0.34931	0.065;0.192	T	0.09574	-1.0668	10	0.33141	T	0.24	-14.6971	14.6265	0.68624	0.0:0.8199:0.0:0.1801	.	578;578	Q96J94;Q96J94-2	PIWL1_HUMAN;.	E	578	ENSP00000245255:D578E	ENSP00000245255:D578E	D	+	3	2	PIWIL1	129411746	0.737000	0.28175	0.835000	0.33067	0.913000	0.54294	-0.091000	0.11146	-0.482000	0.06782	0.533000	0.62120	GAT		0.433	PIWIL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399510.1			30	76	0	0	0	0.717897	0	30	76					G	130845793	T	G	130845793	3	3	22	1	0	0	0	0	1	0	0	0	11957	1490	52	5	1788	5	PIWIL1	12	130845793	Missense_Mutation	SNP	T	TCGA-CH-5750-01A-11D-1576-08	98081704	130845793	3006102	53	928											
LATS2	26524	broad.mit.edu	37	chr13	21557700	21557700	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcggccaggatgtccctctcGgccttgacgtgggccacctg	4	9	13	15	3	1	1	0	1	1	0	4	2	2	2	5	4	0	0	5	4	0	1			TCGA-CH-5750-01A-11D-1576-08	TCGA-CH-5750-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b169c3-44e0-43e5-9ee3-2df7a678a5ea	69ebe1ab-c416-4473-8d82-91b475b206d4	g.chr13:21557700G>A	ENST00000382592.4	-	5	2550	c.2145C>T	c.(2143-2145)gcC>gcT	p.A715A	LATS2_ENST00000542899.1_Silent_p.A715A	NM_014572.2	NP_055387.2			large tumor suppressor kinase 2									p.A715A(2)		breast(4)|central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(2)	45		all_cancers(29;4.74e-22)|all_epithelial(30;1.45e-18)|all_lung(29;4.69e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)		all cancers(112;0.000781)|Epithelial(112;0.00144)|OV - Ovarian serous cystadenocarcinoma(117;0.0183)|Lung(94;0.0375)|LUSC - Lung squamous cell carcinoma(192;0.104)		TGTCCCTCTCGGCCTTGACGT	0.532																																						ENST00000382592.4																			2	Substitution - coding silent(2)	p.A715A(2)	prostate(2)	breast(4)|central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(2)	45						c.(2143-2145)gcC>gcT		large tumor suppressor kinase 2							138	129	132					13																	21557700		2203	4300	6503	SO:0001819	synonymous_variant	26524				cell division|G1/S transition of mitotic cell cycle|hippo signaling cascade|hormone-mediated signaling pathway|intracellular protein kinase cascade|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity	microtubule organizing center|nucleus|spindle pole	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr13:21557700G>A	AB028019	CCDS9294.1	13q11-q12	2013-04-25	2013-04-25		ENSG00000150457	ENSG00000150457			6515	protein-coding gene	gene with protein product		604861	"LATS (large tumor suppressor, Drosophila) homolog 2", "LATS, large tumor suppressor, homolog 2 (Drosophila)"			10673337	Standard	NM_014572		Approved		uc001unr.4	Q9NRM7	OTTHUMG00000016531	ENST00000382592.4:c.2145C>T	13.37:g.21557700G>A						LATS2_ENST00000542899.1_Silent_p.A715A	p.A715A	NM_014572.2	NP_055387.2	Q9NRM7	LATS2_HUMAN		all cancers(112;0.000781)|Epithelial(112;0.00144)|OV - Ovarian serous cystadenocarcinoma(117;0.0183)|Lung(94;0.0375)|LUSC - Lung squamous cell carcinoma(192;0.104)	5	2550	-		all_cancers(29;4.74e-22)|all_epithelial(30;1.45e-18)|all_lung(29;4.69e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)	715			Protein kinase.			Silent	SNP	ENST00000382592.4	37	c.2145C>T	CCDS9294.1																																																																																				0.532	LATS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044102.1			11	332	0	0	0	0.38729	0	11	332					A	21557700	G	A	21557700	2	1	22	1	0	0	0	0	0	0	0	1	8647	1103	39	2		2	LATS2	13	21557700	Silent	SNP	G	TCGA-CH-5750-01A-11D-1576-08		21557700	93612178	54	929											
ABCC4	10257	broad.mit.edu	37	chr13	95862980	95862980	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcacatcattggacagcagaTtgactatctggcctgtggtt	9	13	10	9	0	3	2	2	1	1	1	3	3	3	3	1	3	1	2	1	3	1	4	rs200675964		TCGA-CH-5750-01A-11D-1576-08	TCGA-CH-5750-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b169c3-44e0-43e5-9ee3-2df7a678a5ea	69ebe1ab-c416-4473-8d82-91b475b206d4	g.chr13:95862980T>C	ENST00000376887.4	-	5	701	c.587A>G	c.(586-588)aAt>aGt	p.N196S	ABCC4_ENST00000431522.1_Missense_Mutation_p.N196S|ABCC4_ENST00000538287.1_3'UTR|ABCC4_ENST00000412704.1_Missense_Mutation_p.N196S|snoU13_ENST00000459449.1_RNA|ABCC4_ENST00000536256.1_Missense_Mutation_p.N121S	NM_005845.3	NP_005836.2	O15439	MRP4_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 4	196	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				blood coagulation (GO:0007596)|oxidation-reduction process (GO:0055114)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of smooth muscle cell proliferation (GO:0048661)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|response to organonitrogen compound (GO:0010243)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet dense granule membrane (GO:0031088)	15-hydroxyprostaglandin dehydrogenase (NAD+) activity (GO:0016404)|ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)	p.N196S(3)		breast(1)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43	all_neural(89;0.0878)|Medulloblastoma(90;0.163)				Adefovir Dipivoxil(DB00718)|Alprostadil(DB00770)|Atorvastatin(DB01076)|Cefazolin(DB01327)|Celecoxib(DB00482)|Conjugated Estrogens(DB00286)|Diclofenac(DB00586)|Dinoprostone(DB00917)|Dipyridamole(DB00975)|Fluorouracil(DB00544)|Flurbiprofen(DB00712)|Folic Acid(DB00158)|Gadoxetate(DB08884)|Glutathione(DB00143)|Ibuprofen(DB01050)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Lamivudine(DB00709)|Leucovorin(DB00650)|Meloxicam(DB00814)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|Nateglinide(DB00731)|Oseltamivir(DB00198)|Probenecid(DB01032)|Rosuvastatin(DB01098)|Sildenafil(DB00203)|Sorafenib(DB00398)|Sulfinpyrazone(DB01138)|Sunitinib(DB01268)|Tenofovir(DB00300)|Tioguanine(DB00352)|Ursodeoxycholic acid(DB01586)|Verapamil(DB00661)|Zidovudine(DB00495)	GGACAGCAGATTGACTATCTG	0.418																																						ENST00000376887.4																			3	Substitution - Missense(3)	p.N196S(3)	prostate(3)	breast(1)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43						c.(586-588)aAt>aGt		ATP-binding cassette, sub-family C (CFTR/MRP), member 4	Cefazolin(DB01327)						182	137	153					13																	95862980		2203	4300	6503	SO:0001583	missense	10257				platelet activation|platelet degranulation	integral to membrane|membrane fraction|plasma membrane|platelet dense granule membrane	15-hydroxyprostaglandin dehydrogenase (NAD+) activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|chloride channel activity	g.chr13:95862980T>C	U66682	CCDS9474.1	13q31	2012-03-14			ENSG00000125257	ENSG00000125257		"ATP binding cassette transporters / subfamily C"	55	protein-coding gene	gene with protein product	"canalicular multispecific organic anion transporter (ABC superfamily)", "bA464I2.1 (ATP-binding cassette, sub-family C (CFTR/MRP), member 4)", "multidrug resistance-associated protein 4", "multispecific organic anion transporter B"	605250				8894702, 9661885	Standard	NM_005845		Approved	MRP4, EST170205, MOAT-B, MOATB	uc001vmd.4	O15439	OTTHUMG00000017216	ENST00000376887.4:c.587A>G	13.37:g.95862980T>C	ENSP00000366084:p.Asn196Ser					ABCC4_ENST00000538287.1_3'UTR|ABCC4_ENST00000536256.1_Missense_Mutation_p.N121S|ABCC4_ENST00000412704.1_Missense_Mutation_p.N196S|ABCC4_ENST00000431522.1_Missense_Mutation_p.N196S	p.N196S	NM_005845.3	NP_005836.2	O15439	MRP4_HUMAN			5	701	-	all_neural(89;0.0878)|Medulloblastoma(90;0.163)		196			ABC transmembrane type-1 1.		A9Z1Z7|Q8IVZ4|Q8IZN6|Q8NEW8|Q9Y6J2	Missense_Mutation	SNP	ENST00000376887.4	37	c.587A>G	CCDS9474.1	.	.	.	.	.	.	.	.	.	.	T	22.9	4.355335	0.82243	.	.	ENSG00000125257	ENST00000412704;ENST00000376887;ENST00000536256;ENST00000431522	D;D;D;D	0.88277	-2.36;-2.36;-2.36;-2.36	4.85	4.85	0.62838	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.000000	0.85682	D	0.000000	D	0.95033	0.8392	M	0.88842	2.985	0.80722	D	1	D;D;D;D;D	0.89917	0.996;1.0;0.982;1.0;0.999	D;D;P;D;D	0.85130	0.974;0.997;0.899;0.997;0.98	D	0.95894	0.8909	10	0.87932	D	0	.	14.4731	0.67529	0.0:0.0:0.0:1.0	.	121;196;196;196;196	B7Z3Q7;A8K2Q2;O15439-2;Q8IVZ4;O15439	.;.;.;.;MRP4_HUMAN	S	196;196;121;196	ENSP00000388657:N196S;ENSP00000366084:N196S;ENSP00000442024:N121S;ENSP00000398562:N196S	ENSP00000366084:N196S	N	-	2	0	ABCC4	94660981	1.000000	0.71417	0.992000	0.48379	0.978000	0.69477	7.385000	0.79763	1.826000	0.53198	0.460000	0.39030	AAT		0.418	ABCC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045478.2	NM_005845		12	86	0	0	0	0.435327	0	12	86					C	95862980	T	C	95862980	3	2	22	1	0	0	0	0	1	0	0	0	55	1493	52	4	3547	4	ABCC4	13	95862980	Missense_Mutation	SNP	T	TCGA-CH-5750-01A-11D-1576-08	74305280	95862980	19306898	55	930											
HERC2	8924	broad.mit.edu	37	chr15	28387490	28387490	+	Frame_Shift_Del	DEL	C	C	-																															cccacttgtgcgtctcggcaCagcaaggcagagtgtccagc																										TCGA-CH-5750-01A-11D-1576-08	TCGA-CH-5750-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b169c3-44e0-43e5-9ee3-2df7a678a5ea	69ebe1ab-c416-4473-8d82-91b475b206d4	g.chr15:28387490delC	ENST00000261609.7	-	76	11702	c.11594delG	c.(11593-11595)tgtfs	p.C3865fs		NM_004667.5	NP_004658.3			HECT and RLD domain containing E3 ubiquitin protein ligase 2											NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		CGTCTCGGCACAGCAAGGCAG	0.547																																						ENST00000261609.7																			0				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204						c.(11593-11595)ttfs		HECT and RLD domain containing E3 ubiquitin protein ligase 2							40	34	36					15																	28387490		2203	4297	6500	SO:0001589	frameshift_variant	8924				DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr15:28387490delC	AF071172	CCDS10021.1	15q13	2012-02-23	2012-02-23		ENSG00000128731	ENSG00000128731			4868	protein-coding gene	gene with protein product		605837	"hect domain and RLD 2"			9949213	Standard	NM_004667		Approved	jdf2, p528, D15F37S1	uc001zbj.4	O95714	OTTHUMG00000129251	ENST00000261609.7:c.11594delG	15.37:g.28387490delC	ENSP00000261609:p.Cys3865fs						p.C3865fs	NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)	76	11702	-		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)	3865						Frame_Shift_Del	DEL	ENST00000261609.7	37	c.11594delG	CCDS10021.1																																																																																				0.547	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251358.2	NM_004667		8	51						8	51	---	---	---	---	-	28387490	C	-	28387490	7	5	22	1	0	1	0	1	0	0	0	0	7058	478	17	0	2982	0	HERC2	15	28387490	Frame_Shift_Del	DEL	C	TCGA-CH-5750-01A-11D-1576-08		28387490	74143902	56	931											
HERC1	8925	broad.mit.edu	37	chr15	63978653	63978653	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aatctgtccattctccactaGgcaacactgagctttctccg	9	12	6	14	1	3	1	0	1	3	0	6	1	4	1	3	1	2	2	3	1	3	3			TCGA-CH-5750-01A-11D-1576-08	TCGA-CH-5750-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b169c3-44e0-43e5-9ee3-2df7a678a5ea	69ebe1ab-c416-4473-8d82-91b475b206d4	g.chr15:63978653G>C	ENST00000443617.2	-	34	6217	c.6130C>G	c.(6130-6132)Cta>Gta	p.L2044V	RP11-317G6.1_ENST00000559303.2_RNA	NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	2044	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				cerebellar Purkinje cell differentiation (GO:0021702)|negative regulation of autophagy (GO:0010507)|neuromuscular process controlling balance (GO:0050885)|neuron projection development (GO:0031175)|positive regulation of GTPase activity (GO:0043547)|transport (GO:0006810)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)	p.L2044V(3)		NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						TTCTCCACTAGGCAACACTGA	0.473																																						ENST00000443617.2																			3	Substitution - Missense(3)	p.L2044V(3)	prostate(3)	NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						c.(6130-6132)Cta>Gta		HECT and RLD domain containing E3 ubiquitin protein ligase family member 1							178	180	179					15																	63978653		1957	4154	6111	SO:0001583	missense	8925				protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity	g.chr15:63978653G>C	U50078	CCDS45277.1	15q22	2013-01-10	2012-02-23			ENSG00000103657		"WD repeat domain containing"	4867	protein-coding gene	gene with protein product		605109	"hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 1"			8861955, 9233772	Standard	NM_003922		Approved	p532, p619	uc002amp.3	Q15751		ENST00000443617.2:c.6130C>G	15.37:g.63978653G>C	ENSP00000390158:p.Leu2044Val					RP11-317G6.1_ENST00000559303.2_RNA	p.L2044V	NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN			34	6217	-			2044			B30.2/SPRY.		Q8IW65	Missense_Mutation	SNP	ENST00000443617.2	37	c.6130C>G	CCDS45277.1	.	.	.	.	.	.	.	.	.	.	G	1.034	-0.680973	0.03353	.	.	ENSG00000103657	ENST00000443617	T	0.65178	-0.14	5.5	-2.71	0.05986	Concanavalin A-like lectin/glucanase (1);B30.2/SPRY domain (1);	0.430875	0.19926	N	0.102975	T	0.20495	0.0493	N	0.02011	-0.69	0.09310	N	0.999993	B	0.02656	0.0	B	0.01281	0.0	T	0.29912	-0.9996	10	0.02654	T	1	.	2.1459	0.03787	0.2536:0.09:0.1511:0.5053	.	2044	Q15751	HERC1_HUMAN	V	2044	ENSP00000390158:L2044V	ENSP00000390158:L2044V	L	-	1	2	HERC1	61765706	0.278000	0.24230	0.867000	0.34043	0.889000	0.51656	-0.170000	0.09897	-0.298000	0.08921	-0.459000	0.05422	CTA		0.473	HERC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418523.1	NM_003922		7	439	0	0	0	0.307466	0	7	439					C	63978653	G	C	63978653	3	2	22	1	0	0	0	0	1	0	0	0	7057	991	35	5	8635	5	HERC1	15	63978653	Missense_Mutation	SNP	G	TCGA-CH-5750-01A-11D-1576-08	35591163	63978653	38552739	57	932											
A2BP1	54715	broad.mit.edu	37	chr16	7657342	7657342	+	Splice_Site	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agtcccgaattctatgcaggTacagagtttctctttgcacg	9	13	9	10	2	2	1	0	0	2	1	4	2	3	1	1	1	3	4	1	1	3	5			TCGA-CH-5750-01A-11D-1576-08	TCGA-CH-5750-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b169c3-44e0-43e5-9ee3-2df7a678a5ea	69ebe1ab-c416-4473-8d82-91b475b206d4	g.chr16:7657342T>G	ENST00000550418.1	+	10	1664		c.e10+2		RBFOX1_ENST00000547338.1_Splice_Site|RBFOX1_ENST00000547372.1_Splice_Site|RBFOX1_ENST00000355637.4_Splice_Site|RBFOX1_ENST00000340209.4_Splice_Site|RBFOX1_ENST00000552089.1_Splice_Site|RBFOX1_ENST00000535565.2_Splice_Site|RBFOX1_ENST00000436368.2_Splice_Site|RBFOX1_ENST00000311745.5_Splice_Site|RBFOX1_ENST00000553186.1_Splice_Site|RBFOX1_ENST00000422070.4_Splice_Site	NM_018723.3	NP_061193.2	Q9NWB1	RFOX1_HUMAN	RNA binding protein, fox-1 homolog (C. elegans) 1						mRNA processing (GO:0006397)|neuromuscular process controlling balance (GO:0050885)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)|RNA transport (GO:0050658)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	nucleotide binding (GO:0000166)|protein C-terminus binding (GO:0008022)|RNA binding (GO:0003723)	p.?(2)		breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|lung(17)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)	55						TCTATGCAGGTACAGAGTTTC	0.368																																					Ovarian(157;934 2567 15163 39509)	ENST00000340209.4																			2	Unknown(2)	p.?(2)	prostate(2)	breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|lung(17)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)	55						c.e7+2		RNA binding protein, fox-1 homolog (C. elegans) 1							180	162	168					16																	7657342		2197	4300	6497	SO:0001630	splice_region_variant	54715				mRNA processing|RNA splicing|RNA transport	nucleus|trans-Golgi network	nucleotide binding|protein C-terminus binding|RNA binding	g.chr16:7657342T>G	AF107203	CCDS10531.1, CCDS10532.1, CCDS45405.1, CCDS55983.1, CCDS55984.1	16p13.3	2013-02-12			ENSG00000078328	ENSG00000078328		"RNA binding motif (RRM) containing"	18222	protein-coding gene	gene with protein product	"ataxin 2-binding protein 1", "hexaribonucleotide binding protein 1"	605104				10814712, 16260614	Standard	NM_018723		Approved	A2BP1, FOX-1, HRNBP1	uc002cyy.2	Q9NWB1	OTTHUMG00000129551	ENST00000550418.1:c.676+2T>G	16.37:g.7657342T>G						RBFOX1_ENST00000422070.4_Splice_Site|RBFOX1_ENST00000535565.2_Splice_Site|RBFOX1_ENST00000553186.1_Splice_Site|RBFOX1_ENST00000436368.2_Splice_Site|RBFOX1_ENST00000552089.1_Splice_Site|RBFOX1_ENST00000547338.1_Splice_Site|RBFOX1_ENST00000547372.1_Splice_Site|RBFOX1_ENST00000550418.1_Splice_Site|RBFOX1_ENST00000355637.4_Splice_Site|RBFOX1_ENST00000311745.5_Splice_Site				Q9NWB1	RFOX1_HUMAN			7	988	+								Q7Z7I7|Q8TAE3|Q8TAF2|Q8WYB2|Q9NS20	Splice_Site	SNP	ENST00000550418.1	37		CCDS55983.1	.	.	.	.	.	.	.	.	.	.	T	15.87	2.960628	0.53400	.	.	ENSG00000078328	ENST00000547605;ENST00000550418;ENST00000553186;ENST00000547372;ENST00000422070;ENST00000535565;ENST00000552089;ENST00000551752;ENST00000547338;ENST00000436368;ENST00000311745;ENST00000355637;ENST00000352951;ENST00000340209	.	.	.	5.46	5.46	0.80206	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.3611	0.66771	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	RBFOX1	7597343	1.000000	0.71417	1.000000	0.80357	0.475000	0.33008	6.608000	0.74168	2.080000	0.62538	0.454000	0.30748	.		0.368	RBFOX1-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000409492.2	NM_145891	Intron	31	187	0	0	0	0.779181	0	31	187					G	7657342	T	G	7657342	5	3	22	1	0	0	0	0	0	0	1	0	3	1652	57	5	795	5	A2BP1	16	7657342	Splice_Site	SNP	T	TCGA-CH-5750-01A-11D-1576-08		7657342	82697411	58	933											
TMC7	79905	broad.mit.edu	37	chr16	19041572	19041572	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctggaggaaactagcctcttTtacggacattacaccattga	12	11	8	10	1	1	1	0	1	1	0	1	4	1	4	2	3	4	0	2	3	4	5			TCGA-CH-5750-01A-11D-1576-08	TCGA-CH-5750-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b169c3-44e0-43e5-9ee3-2df7a678a5ea	69ebe1ab-c416-4473-8d82-91b475b206d4	g.chr16:19041572T>C	ENST00000304381.5	+	6	868	c.738T>C	c.(736-738)ttT>ttC	p.F246F	TMC7_ENST00000421369.3_Silent_p.F136F|TMC7_ENST00000569532.1_Silent_p.F246F	NM_024847.3	NP_079123.3	Q7Z402	TMC7_HUMAN	transmembrane channel-like 7	246					ion transport (GO:0006811)	integral component of membrane (GO:0016021)		p.F246F(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	28						CTAGCCTCTTTTACGGACATT	0.507																																						ENST00000421369.3																			1	Substitution - coding silent(1)	p.F246F(1)	prostate(1)	breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	28						c.(406-408)ttT>ttC		transmembrane channel-like 7							146	132	137					16																	19041572		2197	4300	6497	SO:0001819	synonymous_variant	79905					integral to membrane		g.chr16:19041572T>C	AY263165	CCDS10573.1, CCDS53992.1, CCDS73837.1	16p13.11	2008-02-05			ENSG00000170537	ENSG00000170537			23000	protein-coding gene	gene with protein product						12812529, 12906855	Standard	XM_005255597		Approved	FLJ21240	uc002dfq.3	Q7Z402	OTTHUMG00000131456	ENST00000304381.5:c.738T>C	16.37:g.19041572T>C						TMC7_ENST00000304381.5_Silent_p.F246F|TMC7_ENST00000569532.1_Silent_p.F246F	p.F136F	NM_001160364.1	NP_001153836.1	Q7Z402	TMC7_HUMAN			6	966	+			246					E7ERB6|Q5H9Q8|Q7Z5M4|Q86WX0|Q9H766	Silent	SNP	ENST00000304381.5	37	c.408T>C	CCDS10573.1																																																																																				0.507	TMC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254276.3	NM_024847		7	283	0	0	0	0.307466	0	7	283					C	19041572	T	C	19041572	2	2	22	1	0	0	0	0	0	0	0	1	15987	1838	64	4		4	TMC7	16	19041572	Silent	SNP	T	TCGA-CH-5750-01A-11D-1576-08	11384230	19041572	71313181	59	934											
SRCAP	10847	broad.mit.edu	37	chr16	30732660	30732666	+	Frame_Shift_Del	DEL	CAGGCTA	CAGGCTA	-																															gaagcccctgacagtgccacCaggctacaccttccctcctg																										TCGA-CH-5750-01A-11D-1576-08	TCGA-CH-5750-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b169c3-44e0-43e5-9ee3-2df7a678a5ea	69ebe1ab-c416-4473-8d82-91b475b206d4	g.chr16:30732660_30732666delCAGGCTA	ENST00000262518.4	+	21	3789_3795	c.3404_3410delCAGGCTA	c.(3403-3411)ccaggctacfs	p.PGY1135fs	SRCAP_ENST00000344771.4_Intron|SRCAP_ENST00000395059.2_Frame_Shift_Del_p.PGY1135fs	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	1135	Pro-rich.				histone acetylation (GO:0016573)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			ACAGTGCCACCAGGCTACACCTTCCCT	0.623																																						ENST00000262518.4																			0				NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136						c.(3403-3411)ccfs		Snf2-related CREBBP activator protein																																				SO:0001589	frameshift_variant	10847				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity	g.chr16:30732660_30732666delCAGGCTA	AB002307	CCDS10689.2	16p11.2	2009-08-06			ENSG00000080603	ENSG00000080603			16974	protein-coding gene	gene with protein product	"Swi2/Snf2-related ATPase homolog (S. cerevisiae)", "domino homolog 1 (Drosophila)"	611421				10347196, 9205841	Standard	NM_006662		Approved	KIAA0309, EAF1, SWR1, DOMO1	uc002dze.1	Q6ZRS2	OTTHUMG00000132393	ENST00000262518.4:c.3404_3410delCAGGCTA	16.37:g.30732660_30732666delCAGGCTA	ENSP00000262518:p.Pro1135fs					SRCAP_ENST00000395059.2_Frame_Shift_Del_p.PGY1135fs|SRCAP_ENST00000344771.4_Intron	p.PGY1135fs	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Colorectal(24;0.198)		21	3789_3795	+			1135			Pro-rich.		B0JZA6|O15026|Q7Z744|Q9Y5L9	Frame_Shift_Del	DEL	ENST00000262518.4	37	c.3404_3410delCAGGCTA	CCDS10689.2																																																																																				0.623	SRCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255523.1	NM_006662		10	202						10	202	---	---	---	---	-	30732666	CAGGCTA	-	30732660	7	5	22	1	0	1	0	1	0	0	0	0	15134	594	21	0	3478	0	SRCAP	16	30732660	Frame_Shift_Del	DEL	CAGGCTA	TCGA-CH-5750-01A-11D-1576-08	11691088	30732660	59622093	60	935											
SLC5A2	6524	broad.mit.edu	37	chr16	31499068	31499068	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	atcgtctcgggctggtactgGtgcagcgaccaggtgcgggt	5	9	17	10	4	1	0	0	0	1	0	3	1	1	0	1	5	4	3	1	5	1	1			TCGA-CH-5750-01A-11D-1576-08	TCGA-CH-5750-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b169c3-44e0-43e5-9ee3-2df7a678a5ea	69ebe1ab-c416-4473-8d82-91b475b206d4	g.chr16:31499068G>A	ENST00000330498.3	+	7	892	c.873G>A	c.(871-873)tgG>tgA	p.W291*	AC026471.6_ENST00000565137.1_RNA	NM_003041.3	NP_003032.1	P31639	SC5A2_HUMAN	solute carrier family 5 (sodium/glucose cotransporter), member 2	291					carbohydrate metabolic process (GO:0005975)|glucose transport (GO:0015758)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	low-affinity glucose:sodium symporter activity (GO:0005362)	p.W291*(1)		endometrium(2)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	25					Canagliflozin(DB08907)|Dapagliflozin(DB06292)	GCTGGTACTGGTGCAGCGACC	0.721																																						ENST00000330498.3																			1	Substitution - Nonsense(1)	p.W291*(1)	prostate(1)	endometrium(2)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	25						c.(871-873)tgG>tgA		solute carrier family 5 (sodium/glucose cotransporter), member 2							21	23	22					16																	31499068		2196	4297	6493	SO:0001587	stop_gained	6524				carbohydrate metabolic process	integral to membrane	low-affinity glucose:sodium symporter activity	g.chr16:31499068G>A		CCDS10714.1	16p11.2	2013-05-22			ENSG00000140675	ENSG00000140675		"Solute carriers"	11037	protein-coding gene	gene with protein product		182381		SGLT2		8244402	Standard	NM_003041		Approved		uc002ecf.4	P31639	OTTHUMG00000176620	ENST00000330498.3:c.873G>A	16.37:g.31499068G>A	ENSP00000327943:p.Trp291*					AC026471.6_ENST00000565137.1_RNA	p.W291*	NM_003041.3	NP_003032.1	P31639	SC5A2_HUMAN			7	892	+			291					A2RRD2	Nonsense_Mutation	SNP	ENST00000330498.3	37	c.873G>A	CCDS10714.1	.	.	.	.	.	.	.	.	.	.	G	34	5.299086	0.95574	.	.	ENSG00000140675	ENST00000330498;ENST00000419665	.	.	.	4.13	4.13	0.48395	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.9081	0.41388	0.0:0.2079:0.7921:0.0	.	.	.	.	X	291	.	ENSP00000327943:W291X	W	+	3	0	SLC5A2	31406569	1.000000	0.71417	1.000000	0.80357	0.882000	0.50991	6.493000	0.73658	2.136000	0.66102	0.455000	0.32223	TGG		0.721	SLC5A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255627.2			10	33	0	0	0	0.361761	0	10	33					A	31499068	G	A	31499068	4	1	22	1	0	0	0	0	0	1	0	0	14665	1270	44	3	899	3	SLC5A2	16	31499068	Nonsense_Mutation	SNP	G	TCGA-CH-5750-01A-11D-1576-08	766408	31499068	58855685	61	936											
PRPF8	10594	broad.mit.edu	37	chr17	1559946	1559946	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caccccaccctcttacctccAgtgggtccagcatgcccttc	6	9	6	20	0	1	0	0	0	1	0	4	0	3	0	7	1	3	1	7	1	1	2			TCGA-CH-5750-01A-11D-1576-08	TCGA-CH-5750-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b169c3-44e0-43e5-9ee3-2df7a678a5ea	69ebe1ab-c416-4473-8d82-91b475b206d4	g.chr17:1559946A>C	ENST00000572621.1	-	34	5880	c.5615T>G	c.(5614-5616)cTg>cGg	p.L1872R	PRPF8_ENST00000304992.6_Missense_Mutation_p.L1872R|PRPF8_ENST00000575116.1_5'Flank			Q6P2Q9	PRP8_HUMAN	pre-mRNA processing factor 8	1872	Involved in interaction with pre-mRNA 5' splice site.|RNase H homology domain.				gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|U5 snRNP (GO:0005682)	poly(A) RNA binding (GO:0044822)|U5 snRNA binding (GO:0030623)|U6 snRNA binding (GO:0017070)	p.L1872R(1)		NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77				UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)		TCTTACCTCCAGTGGGTCCAG	0.552																																						ENST00000572621.1																			1	Substitution - Missense(1)	p.L1872R(1)	prostate(1)	NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77						c.(5614-5616)cTg>cGg		pre-mRNA processing factor 8							58	47	51					17																	1559946		2203	4300	6503	SO:0001583	missense	10594					catalytic step 2 spliceosome|nuclear speck|U5 snRNP	protein binding|RNA binding	g.chr17:1559946A>C	AB007510	CCDS11010.1	17p13.3	2013-07-16	2013-06-10		ENSG00000174231	ENSG00000174231			17340	protein-coding gene	gene with protein product		607300	"PRP8 pre-mRNA processing factor 8 homolog (yeast)", "PRP8 pre-mRNA processing factor 8 homolog (S. cerevisiae)"	RP13		11468273, 10411133	Standard	NM_006445		Approved	PRPC8, Prp8, hPrp8, SNRNP220	uc002fte.3	Q6P2Q9	OTTHUMG00000090553	ENST00000572621.1:c.5615T>G	17.37:g.1559946A>C	ENSP00000460348:p.Leu1872Arg					PRPF8_ENST00000304992.6_Missense_Mutation_p.L1872R	p.L1872R			Q6P2Q9	PRP8_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)	34	5880	-			1872			Involved in interaction with pre-mRNA 5' splice site.		O14547|O75965	Missense_Mutation	SNP	ENST00000572621.1	37	c.5615T>G	CCDS11010.1	.	.	.	.	.	.	.	.	.	.	a	26.2	4.713593	0.89112	.	.	ENSG00000174231	ENST00000304992;ENST00000540177	D	0.86497	-2.13	5.56	5.56	0.83823	PRP8 domain IV core (1);	0.000000	0.85682	D	0.000000	D	0.94932	0.8361	M	0.92459	3.31	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	D	0.96038	0.9022	10	0.87932	D	0	-12.1636	15.7141	0.77655	1.0:0.0:0.0:0.0	.	1872	Q6P2Q9	PRP8_HUMAN	R	1872;397	ENSP00000304350:L1872R	ENSP00000304350:L1872R	L	-	2	0	PRPF8	1506696	1.000000	0.71417	0.909000	0.35828	0.980000	0.70556	9.339000	0.96797	2.112000	0.64535	0.533000	0.62120	CTG		0.552	PRPF8-002	NOVEL	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438412.2			24	40	0	0	0	0.667858	0	24	40					C	1559946	A	C	1559946	3	2	22	1	0	0	0	0	1	0	0	0	12575	188	7	5	1428	5	PRPF8	17	1559946	Missense_Mutation	SNP	A	TCGA-CH-5750-01A-11D-1576-08		1559946	79635264	62	937											
RTN4RL1	146760	broad.mit.edu	37	chr17	1840948	1840948	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttctgcaggaagacgcgctcGctgtccacggggatgccctc	6	8	13	14	4	1	1	0	0	1	1	4	3	2	3	2	3	2	3	2	3	1	1			TCGA-CH-5750-01A-11D-1576-08	TCGA-CH-5750-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b169c3-44e0-43e5-9ee3-2df7a678a5ea	69ebe1ab-c416-4473-8d82-91b475b206d4	g.chr17:1840948G>A	ENST00000331238.6	-	2	647	c.168C>T	c.(166-168)agC>agT	p.S56S		NM_178568.2	NP_848663.1			reticulon 4 receptor-like 1									p.S56S(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|prostate(2)|skin(1)	11						AGACGCGCTCGCTGTCCACGG	0.652																																					GBM(68;949 1139 14865 32798 38342)	ENST00000331238.5																			1	Substitution - coding silent(1)	p.S56S(1)	prostate(1)	breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|prostate(2)|skin(1)	11						c.(166-168)agC>agT		reticulon 4 receptor-like 1							55	66	62					17																	1840948		2170	4266	6436	SO:0001819	synonymous_variant	146760				axon regeneration	anchored to plasma membrane	receptor activity	g.chr17:1840948G>A	AF532859	CCDS45569.1	17p13.3	2008-02-05				ENSG00000185924			21329	protein-coding gene	gene with protein product	"nogo-66 receptor homolog 2"	610461					Standard	NM_178568		Approved	NGRH2, NgR3, DKFZp547J144	uc002ftp.3	Q86UN2		ENST00000331238.6:c.168C>T	17.37:g.1840948G>A							p.S56S	NM_178568.2	NP_848663.1	Q86UN2	R4RL1_HUMAN			2	186	-			56						Silent	SNP	ENST00000331238.6	37	c.168C>T	CCDS45569.1																																																																																				0.652	RTN4RL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450155.2	NM_178568		4	54	0	0	0	0.150653	0	4	54					A	1840948	G	A	1840948	2	1	22	1	0	0	0	0	0	0	0	1	13731	1078	38	1		1	RTN4RL1	17	1840948	Silent	SNP	G	TCGA-CH-5750-01A-11D-1576-08	281002	1840948	79354262	63	938											
XAF1	54739	broad.mit.edu	37	chr17	6673970	6673970	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcacaattgcagggtaaatgTtgtccagactcagagtttaa	13	12	9	7	0	2	2	2	0	0	2	3	2	3	2	1	1	1	4	1	1	4	5			TCGA-CH-5750-01A-11D-1576-08	TCGA-CH-5750-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b169c3-44e0-43e5-9ee3-2df7a678a5ea	69ebe1ab-c416-4473-8d82-91b475b206d4	g.chr17:6673970T>C	ENST00000361842.3	+	6	755	c.516T>C	c.(514-516)tgT>tgC	p.C172C	XAF1_ENST00000346752.4_Silent_p.C153C|XAF1_ENST00000441631.1_Silent_p.C172C	NM_017523.3	NP_059993.2	Q6GPH4	XAF1_HUMAN	XIAP associated factor 1	172					apoptotic process (GO:0006915)|cytokine-mediated signaling pathway (GO:0019221)|negative regulation of protein complex assembly (GO:0031333)|response to interferon-beta (GO:0035456)|type I interferon signaling pathway (GO:0060337)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)	p.C172C(1)		large_intestine(2)|lung(2)|prostate(1)|urinary_tract(1)	6						AGGGTAAATGTTGTCCAGACT	0.348																																						ENST00000361842.3																			1	Substitution - coding silent(1)	p.C172C(1)	prostate(1)	large_intestine(2)|lung(2)|prostate(1)|urinary_tract(1)	6						c.(514-516)tgT>tgC		XIAP associated factor 1							59	63	62					17																	6673970		2203	4300	6503	SO:0001819	synonymous_variant	54739				apoptosis|type I interferon-mediated signaling pathway	mitochondrion|nucleus	zinc ion binding	g.chr17:6673970T>C	X99699	CCDS11080.1, CCDS11081.1	17p13.2	2010-03-19			ENSG00000132530	ENSG00000132530			30932	protein-coding gene	gene with protein product		606717				12029096, 11175744	Standard	NM_199139		Approved	BIRC4BP, XIAPAF1, HSXIAPAF1	uc002gdn.3	Q6GPH4		ENST00000361842.3:c.516T>C	17.37:g.6673970T>C						XAF1_ENST00000441631.1_Silent_p.C172C|XAF1_ENST00000346752.4_Silent_p.C153C	p.C172C	NM_017523.3	NP_059993.2	Q6GPH4	XAF1_HUMAN			6	755	+			172					A2T931|A2T932|A8K2L1|A8K9Y3|D3DTM6|Q6MZE8|Q8N557|Q99982	Silent	SNP	ENST00000361842.3	37	c.516T>C	CCDS11080.1																																																																																				0.348	XAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439643.5	NM_017523		7	187	0	0	0	0.248553	0	7	187					C	6673970	T	C	6673970	2	2	22	1	0	0	0	0	0	0	0	1	17416	1731	60	4		4	XAF1	17	6673970	Silent	SNP	T	TCGA-CH-5750-01A-11D-1576-08	4833022	6673970	74521240	64	939											
GH2	2689	broad.mit.edu	37	chr17	61958402	61958402	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cactcacagatttctgctgcGttttcaccctgttggaaggt	7	14	9	11	1	3	1	2	0	1	1	3	2	3	2	1	2	2	3	1	2	1	4	rs377217606		TCGA-CH-5750-01A-11D-1576-08	TCGA-CH-5750-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b169c3-44e0-43e5-9ee3-2df7a678a5ea	69ebe1ab-c416-4473-8d82-91b475b206d4	g.chr17:61958402G>A	ENST00000423893.2	-	3	339	c.278C>T	c.(277-279)aCg>aTg	p.T93M	GH2_ENST00000456543.2_Missense_Mutation_p.T93M|GH2_ENST00000332800.7_Missense_Mutation_p.T93M|GH2_ENST00000449787.2_Missense_Mutation_p.T78M			P01242	SOM2_HUMAN	growth hormone 2	93					JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)	extracellular region (GO:0005576)	hormone activity (GO:0005179)	p.T93M(6)		breast(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	24						TTTCTGCTGCGTTTTCACCCT	0.572																																						ENST00000332800.7																			6	Substitution - Missense(6)	p.T93M(6)	prostate(2)|lung(2)|breast(2)	breast(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	24						c.(277-279)aCg>aTg		growth hormone 2		G	MET/THR,MET/THR,MET/THR,MET/THR	0,4406		0,0,2203	153	160	158		278,233,278,278	0.3	0.1	17		158	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense	GH2	NM_002059.3,NM_022556.2,NM_022557.2,NM_022558.2	81,81,81,81	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging	93/218,78/203,93/257,93/246	61958402	1,13005	2203	4300	6503	SO:0001583	missense	2689					extracellular region	hormone activity	g.chr17:61958402G>A	J03756	CCDS11647.1, CCDS11648.1, CCDS45757.1, CCDS45758.1	17q22-q24	2014-01-30						"Endogenous ligands"	4262	protein-coding gene	gene with protein product	"placental-specific growth hormone", "placenta-specific growth hormone"	139240				6306568	Standard	NM_002059		Approved	GH-V, GHV, GHL, hGH-V	uc002jcl.2	P01242		ENST00000423893.2:c.278C>T	17.37:g.61958402G>A	ENSP00000409294:p.Thr93Met					GH2_ENST00000449787.2_Missense_Mutation_p.T78M|GH2_ENST00000423893.2_Missense_Mutation_p.T93M|GH2_ENST00000456543.2_Missense_Mutation_p.T93M	p.T93M	NM_002059.4|NM_022557.3|NM_022558.3	NP_002050.1|NP_072051.1|NP_072052.1	P01242	SOM2_HUMAN			3	411	-			93					B1A4H5|B1A4H7|O14643|O14644|P09587	Missense_Mutation	SNP	ENST00000423893.2	37	c.278C>T	CCDS11647.1	.	.	.	.	.	.	.	.	.	.	g	5.894	0.349068	0.11182	0.0	1.16E-4	ENSG00000136487	ENST00000332800;ENST00000456543;ENST00000423893;ENST00000449787	D;D;D;D	0.89681	-2.55;-2.55;-2.21;-2.21	2.5	0.343	0.16001	Somatotropin hormone, conserved site (1);Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	0.336814	0.31438	N	0.007657	D	0.91778	0.7399	M	0.76328	2.33	0.22424	N	0.99911	D;D;D;D;D	0.89917	1.0;1.0;0.988;1.0;1.0	D;D;P;D;D	0.97110	0.983;0.999;0.782;1.0;0.983	T	0.83275	-0.0041	10	0.62326	D	0.03	.	5.8652	0.18771	0.1254:0.1933:0.6813:0.0	.	93;78;93;93;93	P01242;O14643;O14644;B1A4H7;B1A4H5	SOM2_HUMAN;.;.;.;.	M	93;93;93;78	ENSP00000333157:T93M;ENSP00000394122:T93M;ENSP00000409294:T93M;ENSP00000410618:T78M	ENSP00000333157:T93M	T	-	2	0	GH2	59312134	1.000000	0.71417	0.140000	0.22221	0.000000	0.00434	3.793000	0.55484	-0.021000	0.14009	-2.069000	0.00389	ACG		0.572	GH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417665.1	NM_002059		82	364	0	0	0	0.870114	0	82	364					A	61958402	G	A	61958402	3	1	22	1	0	0	0	0	1	0	0	0	6368	1145	40	1	724	1	GH2	17	61958402	Missense_Mutation	SNP	G	TCGA-CH-5750-01A-11D-1576-08	55284432	61958402	19236808	65	940											
ENGASE	64772	broad.mit.edu	37	chr17	77073870	77073870	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccctggagcccctggcgtgtCgccagccccctctgagcagc	4	6	12	19	2	1	1	0	1	1	0	2	2	1	2	6	2	4	1	6	2	0	0			TCGA-CH-5750-01A-11D-1576-08	TCGA-CH-5750-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b169c3-44e0-43e5-9ee3-2df7a678a5ea	69ebe1ab-c416-4473-8d82-91b475b206d4	g.chr17:77073870C>T	ENST00000579016.1	+	3	340	c.340C>T	c.(340-342)Cgc>Tgc	p.R114C	ENGASE_ENST00000539857.2_5'UTR	NM_001042573.2	NP_001036038.1	Q8NFI3	ENASE_HUMAN	endo-beta-N-acetylglucosaminidase	114						cytoplasm (GO:0005737)	mannosyl-glycoprotein endo-beta-N-acetylglucosaminidase activity (GO:0033925)	p.R114C(1)		breast(2)|endometrium(4)|large_intestine(1)|lung(15)|prostate(2)|skin(1)	25						CCTGGCGTGTCGCCAGCCCCC	0.582																																						ENST00000579016.1																			1	Substitution - Missense(1)	p.R114C(1)	prostate(1)	breast(2)|endometrium(4)|large_intestine(1)|lung(15)|prostate(2)|skin(1)	25						c.(340-342)Cgc>Tgc		endo-beta-N-acetylglucosaminidase							47	51	50					17																	77073870		1933	4137	6070	SO:0001583	missense	64772					cytosol	mannosyl-glycoprotein endo-beta-N-acetylglucosaminidase activity	g.chr17:77073870C>T	AF512564	CCDS42394.1	17q25.3	2009-03-03			ENSG00000167280	ENSG00000167280	3.2.1.96		24622	protein-coding gene	gene with protein product	"Mannosyl-glycoprotein endo-beta-N-acetylglucosaminidase", "Di-N-acetylchitobiosyl beta-N-acetylglucosaminidase"	611898				12114544, 18586680	Standard	NM_001042573		Approved	FLJ21865	uc002jwv.4	Q8NFI3	OTTHUMG00000167714	ENST00000579016.1:c.340C>T	17.37:g.77073870C>T	ENSP00000462333:p.Arg114Cys					ENGASE_ENST00000539857.2_5'UTR	p.R114C	NM_001042573.2	NP_001036038.1	Q8NFI3	ENASE_HUMAN			3	340	+			114					Q659F0|Q8TB86|Q9H6U4	Missense_Mutation	SNP	ENST00000579016.1	37	c.340C>T	CCDS42394.1	.	.	.	.	.	.	.	.	.	.	C	10.79	1.448936	0.26074	.	.	ENSG00000167280	ENST00000311595;ENST00000545583	.	.	.	4.92	4.92	0.64577	.	0.000000	0.85682	D	0.000000	T	0.78059	0.4224	M	0.68593	2.085	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.75020	0.964;0.985	T	0.81077	-0.1096	9	0.87932	D	0	-10.0868	18.133	0.89608	0.0:1.0:0.0:0.0	.	114;114	Q8NFI3;Q8NFI3-3	ENASE_HUMAN;.	C	114	.	ENSP00000308158:R114C	R	+	1	0	ENGASE	74585465	0.999000	0.42202	0.906000	0.35671	0.326000	0.28443	4.266000	0.58871	2.260000	0.74910	0.563000	0.77884	CGC		0.582	ENGASE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395807.1	NM_022759		44	69	0	0	0	0.834066	0	44	69					T	77073870	C	T	77073870	3	4	22	1	0	0	0	0	1	0	0	0	5118	884	31	2	350	2	ENGASE	17	77073870	Missense_Mutation	SNP	C	TCGA-CH-5750-01A-11D-1576-08	15115468	77073870	4121340	66	941											
S1PR2	9294	broad.mit.edu	37	chr19	10335297	10335297	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcgtcagcctcagcgtgacAgagccagagagcaaggtatt	11	6	14	10	2	2	3	2	1	0	2	2	4	2	3	2	2	4	2	2	2	2	2			TCGA-CH-5750-01A-11D-1576-08	TCGA-CH-5750-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b169c3-44e0-43e5-9ee3-2df7a678a5ea	69ebe1ab-c416-4473-8d82-91b475b206d4	g.chr19:10335297A>T	ENST00000590320.1	-	2	395	c.285T>A	c.(283-285)tcT>tcA	p.S95S	CTD-2369P2.2_ENST00000317726.4_lincRNA	NM_004230.3	NP_004221.3	O95136	S1PR2_HUMAN	sphingosine-1-phosphate receptor 2	95					activation of MAPK activity (GO:0000187)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|positive regulation of cell proliferation (GO:0008284)|positive regulation of establishment of endothelial barrier (GO:1903142)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|G-protein coupled receptor binding (GO:0001664)|integrin binding (GO:0005178)|lipid binding (GO:0008289)|sphingosine-1-phosphate receptor activity (GO:0038036)	p.S95S(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15						TCAGCGTGACAGAGCCAGAGA	0.612																																					Pancreas(194;229 3020 15179 45747)	ENST00000590320.1																			1	Substitution - coding silent(1)	p.S95S(1)	prostate(1)	central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15						c.(283-285)tcT>tcA		sphingosine-1-phosphate receptor 2							36	35	35					19																	10335297		2203	4300	6503	SO:0001819	synonymous_variant	9294				activation of MAPK activity|positive regulation of cell proliferation	integral to membrane|plasma membrane	lipid binding|lysosphingolipid and lysophosphatidic acid receptor activity	g.chr19:10335297A>T	AF034780	CCDS12229.1	19q13	2013-03-13	2008-04-30	2008-04-30	ENSG00000267534	ENSG00000267534		"GPCR / Class A : Lysophospholipid receptors : Sphingosine 1-phosphate"	3169	protein-coding gene	gene with protein product		605111	"endothelial differentiation, sphingolipid G-protein-coupled receptor, 5"	EDG5		8087418, 8878560	Standard	NM_004230		Approved	Gpcr13, H218, AGR16	uc002mnl.2	O95136	OTTHUMG00000180399	ENST00000590320.1:c.285T>A	19.37:g.10335297A>T							p.S95S	NM_004230.3	NP_004221.3	O95136	S1PR2_HUMAN			2	395	-			95					Q86UN8	Silent	SNP	ENST00000590320.1	37	c.285T>A	CCDS12229.1																																																																																				0.612	S1PR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451194.1	NM_004230		9	42	0	0	0	0.411799	0	9	42					T	10335297	A	T	10335297	2	4	22	1	0	0	0	0	0	0	0	1	13794	175	7	5		5	S1PR2	19	10335297	Silent	SNP	A	TCGA-CH-5750-01A-11D-1576-08		10335297	48793686	67	942											
C19orf53	28974	broad.mit.edu	37	chr19	13888971	13888971	+	Frame_Shift_Del	DEL	A	A	-																															tgaaggccccagccaagaagAaaggggcagctgccgccacc																										TCGA-CH-5750-01A-11D-1576-08	TCGA-CH-5750-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b169c3-44e0-43e5-9ee3-2df7a678a5ea	69ebe1ab-c416-4473-8d82-91b475b206d4	g.chr19:13888971delA	ENST00000588234.1	+	3	569	c.259delA	c.(259-261)aaafs	p.K87fs	C19orf53_ENST00000593274.1_Frame_Shift_Del_p.K44fs	NM_014047.2	NP_054766.1	Q9UNZ5	L10K_HUMAN	chromosome 19 open reading frame 53	87										breast(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	6			OV - Ovarian serous cystadenocarcinoma(19;7.7e-24)|Epithelial(5;2.53e-19)			AGCCAAGAAGAAAGGGGCAGC	0.597																																						ENST00000588234.1																			0				breast(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	6						c.(259-261)aafs		chromosome 19 open reading frame 53							49	47	48					19																	13888971		2203	4300	6503	SO:0001589	frameshift_variant	28974							g.chr19:13888971delA	AF078852	CCDS12298.1	19p13.2	2011-11-24			ENSG00000104979	ENSG00000104979			24991	protein-coding gene	gene with protein product	"leydig cell tumor 10 kDa protein homolog"					11042152	Standard	NM_014047		Approved	HSPC023, LYDG10	uc002mxg.3	Q9UNZ5		ENST00000588234.1:c.259delA	19.37:g.13888971delA	ENSP00000465432:p.Lys87fs					C19orf53_ENST00000593274.1_Frame_Shift_Del_p.K44fs	p.K87fs	NM_014047.2	NP_054766.1	Q9UNZ5	L10K_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;7.7e-24)|Epithelial(5;2.53e-19)		3	569	+			87					B2R4J9	Frame_Shift_Del	DEL	ENST00000588234.1	37	c.259delA	CCDS12298.1																																																																																				0.597	C19orf53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453621.1	NM_014047		26	66						26	66	---	---	---	---	-	13888971	A	-	13888971	7	5	22	1	0	1	0	1	0	0	0	0	1935	247	9	0	269	0	C19orf53	19	13888971	Frame_Shift_Del	DEL	A	TCGA-CH-5750-01A-11D-1576-08	3553674	13888971	45240012	68	943											
PSG3	5671	broad.mit.edu	37	chr19	43233960	43233960	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagggtgactgggtaactgcGgatgccaccatatcggtcct	8	9	13	11	2	0	1	0	1	0	0	2	2	1	2	3	4	3	1	3	4	2	2	rs372669757		TCGA-CH-5750-01A-11D-1576-08	TCGA-CH-5750-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b169c3-44e0-43e5-9ee3-2df7a678a5ea	69ebe1ab-c416-4473-8d82-91b475b206d4	g.chr19:43233960G>A	ENST00000327495.5	-	4	1142	c.958C>T	c.(958-960)Cgc>Tgc	p.R320C	PSG3_ENST00000595140.1_Missense_Mutation_p.R320C	NM_021016.3	NP_066296.2	Q16557	PSG3_HUMAN	pregnancy specific beta-1-glycoprotein 3	320	Ig-like C2-type 2.				defense response (GO:0006952)|female pregnancy (GO:0007565)	extracellular region (GO:0005576)		p.R320C(1)		central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36		Prostate(69;0.00682)				GGGTAACTGCGGATGCCACCA	0.488													.|||	1	0.000199681	8e-04	0	5008	,	,		21057	0		0	False		,,,				2504	0					ENST00000327495.5																			1	Substitution - Missense(1)	p.R320C(1)	prostate(1)	central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36						c.(958-960)Cgc>Tgc		pregnancy specific beta-1-glycoprotein 3		G	CYS/ARG	1,3021		0,1,1510	174	155	162		958	-2.2	0	19		162	0,5418		0,0,2709	no	missense	PSG3	NM_021016.3	180	0,1,4219	AA,AG,GG		0.0,0.0331,0.0118	benign	320/429	43233960	1,8439	1511	2709	4220	SO:0001583	missense	5671				defense response|female pregnancy	extracellular region		g.chr19:43233960G>A		CCDS12611.1	19q13.2	2013-01-29			ENSG00000221826	ENSG00000221826		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	9520	protein-coding gene	gene with protein product		176392				2341148	Standard	NM_021016		Approved		uc002oue.3	Q16557	OTTHUMG00000151120	ENST00000327495.5:c.958C>T	19.37:g.43233960G>A	ENSP00000332215:p.Arg320Cys					PSG3_ENST00000595140.1_Missense_Mutation_p.R320C	p.R320C	NM_021016.3	NP_066296.2	Q16557	PSG3_HUMAN			4	1142	-		Prostate(69;0.00682)	320			Ig-like C2-type 2.		Q08265|Q9BRW2|Q9UPL4|Q9UQ77	Missense_Mutation	SNP	ENST00000327495.5	37	c.958C>T	CCDS12611.1	.	.	.	.	.	.	.	.	.	.	g	9.872	1.199221	0.22121	3.31E-4	0.0	ENSG00000221826	ENST00000327495	T	0.12774	2.65	1.36	-2.18	0.07037	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.14614	0.0353	M	0.80746	2.51	0.09310	N	1	B;B	0.19200	0.034;0.015	B;B	0.18561	0.009;0.022	T	0.40813	-0.9543	9	0.54805	T	0.06	.	1.8058	0.03080	0.2446:0.0:0.4374:0.318	.	298;320	Q08266;Q16557	.;PSG3_HUMAN	C	320	ENSP00000332215:R320C	ENSP00000332215:R320C	R	-	1	0	PSG3	47925800	0.000000	0.05858	0.001000	0.08648	0.003000	0.03518	-0.929000	0.03976	-0.099000	0.12263	-0.596000	0.04108	CGC		0.488	PSG3-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321423.2	NM_021016		7	293	0	0	0	0.248553	0	7	293					A	43233960	G	A	43233960	3	1	22	1	0	0	0	0	1	0	0	0	12656	1116	39	2	340	2	PSG3	19	43233960	Missense_Mutation	SNP	G	TCGA-CH-5750-01A-11D-1576-08	29344989	43233960	15895023	69	944											
LILRA3	11026	broad.mit.edu	37	chr19	54803046	54803046	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gagccccaggagatcactggGtagagaccacacatagggag	13	4	14	10	0	1	2	1	0	0	2	1	6	1	3	3	3	1	1	3	3	2	2			TCGA-CH-5750-01A-11D-1576-08	TCGA-CH-5750-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b169c3-44e0-43e5-9ee3-2df7a678a5ea	69ebe1ab-c416-4473-8d82-91b475b206d4	g.chr19:54803046G>C	ENST00000251390.3	-	4	722	c.631C>G	c.(631-633)Ccc>Gcc	p.P211A	LILRA3_ENST00000391745.1_Missense_Mutation_p.P228A|LILRA3_ENST00000391744.3_Intron	NM_006865.3	NP_006856.3	Q8N6C8	LIRA3_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (without TM domain), member 3	211	Ig-like C2-type 2.				defense response (GO:0006952)|immune system process (GO:0002376)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)|receptor activity (GO:0004872)	p.P211A(1)		NS(3)|breast(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		AGATCACTGGGTAGAGACCAC	0.617																																						ENST00000391745.1																			1	Substitution - Missense(1)	p.P211A(1)	prostate(1)	NS(3)|breast(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						c.(682-684)Ccc>Gcc		leukocyte immunoglobulin-like receptor, subfamily A (without TM domain), member 3							112	97	102					19																	54803046		2194	4159	6353	SO:0001583	missense	0							g.chr19:54803046G>C	U91926		19q13.4	2013-01-11						"Leukocyte immunoglobulin-like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6604	protein-coding gene	gene with protein product		604818				9278324, 9548455	Standard	XM_006710242		Approved	LIR-4, HM43, ILT6, HM31, LIR4, CD85e		Q8N6C8		ENST00000251390.3:c.631C>G	19.37:g.54803046G>C	ENSP00000251390:p.Pro211Ala					LILRA3_ENST00000391744.3_Intron|LILRA3_ENST00000251390.3_Missense_Mutation_p.P211A	p.P228A						GBM - Glioblastoma multiforme(193;0.105)	8	998	-	Ovarian(34;0.19)							J3KPM2|O15469|O15470|O75016|Q8N151|Q8N154|Q8NHJ1|Q8NHJ2|Q8NHJ3|Q8NHJ4	Missense_Mutation	SNP	ENST00000251390.3	37	c.682C>G	CCDS12887.1	.	.	.	.	.	.	.	.	.	.	G	11.59	1.683467	0.29872	.	.	ENSG00000170866	ENST00000251390;ENST00000391745	T;T	0.00824	5.65;5.65	2.21	1.11	0.20524	Immunoglobulin-like fold (1);	0.466390	0.18344	N	0.144083	T	0.05364	0.0142	H	0.94620	3.56	0.09310	N	1	D	0.63046	0.992	P	0.60068	0.868	T	0.08764	-1.0706	10	0.62326	D	0.03	.	6.6883	0.23158	0.0:0.2983:0.7017:0.0	.	211	Q8N6C8	LIRA3_HUMAN	A	211;228	ENSP00000251390:P211A;ENSP00000375625:P228A	ENSP00000251390:P211A	P	-	1	0	LILRA3	59494858	0.019000	0.18553	0.004000	0.12327	0.009000	0.06853	0.616000	0.24344	0.487000	0.27698	0.586000	0.80456	CCC		0.617	LILRA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000140236.1			4	77	0	0	0	0.150653	0	4	77					C	54803046	G	C	54803046	3	2	22	1	0	0	0	0	1	0	0	0	8786	1261	44	5	704	5	LILRA3	19	54803046	Missense_Mutation	SNP	G	TCGA-CH-5750-01A-11D-1576-08	11569086	54803046	4325937	70	945											
RALGAPB	57148	broad.mit.edu	37	chr20	37144919	37144919	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttgaatgtgagcggaatgccGcaagaattgaatcagtatcc	13	10	11	7	2	1	4	1	3	0	1	2	5	2	5	2	1	2	2	2	1	6	3	rs146906566		TCGA-CH-5750-01A-11D-1576-08	TCGA-CH-5750-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b169c3-44e0-43e5-9ee3-2df7a678a5ea	69ebe1ab-c416-4473-8d82-91b475b206d4	g.chr20:37144919G>A	ENST00000262879.6	+	7	1241	c.957G>A	c.(955-957)ccG>ccA	p.P319P	MIR548O2_ENST00000583129.1_RNA|RALGAPB_ENST00000397040.1_Silent_p.P319P|RALGAPB_ENST00000397042.3_Silent_p.P319P|RALGAPB_ENST00000397038.1_Silent_p.P97P|RALGAPB_ENST00000537204.1_Silent_p.P319P			Q86X10	RLGPB_HUMAN	Ral GTPase activating protein, beta subunit (non-catalytic)	319					activation of Ral GTPase activity (GO:0032859)|membrane organization (GO:0061024)|Ral protein signal transduction (GO:0032484)|regulation of exocyst localization (GO:0060178)		protein heterodimerization activity (GO:0046982)|Ral GTPase activator activity (GO:0017123)			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(29)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						GCGGAATGCCGCAAGAATTGA	0.413													G|||	1	0.000199681	0	0	5008	,	,		17437	0		0.001	False		,,,				2504	0					ENST00000262879.6																			0				breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(29)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						c.(955-957)ccG>ccA		Ral GTPase activating protein, beta subunit (non-catalytic)		G		2,4404	4.2+/-10.8	0,2,2201	165	154	158		957	-9.4	0.9	20	dbSNP_134	158	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	RALGAPB	NM_020336.2		0,3,6500	AA,AG,GG		0.0116,0.0454,0.0231		319/1495	37144919	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	57148				activation of Ral GTPase activity	intracellular	protein heterodimerization activity|Ral GTPase activator activity	g.chr20:37144919G>A	AB033045	CCDS13305.1, CCDS63272.1	20q11.23	2009-09-09	2009-09-09	2009-09-09	ENSG00000170471	ENSG00000170471			29221	protein-coding gene	gene with protein product			"KIAA1219"	KIAA1219		19520869	Standard	XM_005260462		Approved	DKFZp781M2411, RalGAPbeta	uc002xiw.3	Q86X10	OTTHUMG00000140270	ENST00000262879.6:c.957G>A	20.37:g.37144919G>A						RALGAPB_ENST00000397040.1_Silent_p.P319P|RALGAPB_ENST00000397042.3_Silent_p.P319P|RALGAPB_ENST00000397038.1_Silent_p.P97P|RALGAPB_ENST00000537204.1_Silent_p.P319P	p.P319P			Q86X10	RLGPB_HUMAN			7	1241	+			319					A2A2E8|A2A2E9|Q5TG31|Q8N3D1|Q8WWC0|Q9H3X8|Q9UJR1|Q9ULK1|Q9Y3G9	Silent	SNP	ENST00000262879.6	37	c.957G>A	CCDS13305.1																																																																																				0.413	RALGAPB-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000079191.1	NM_020336		5	434	0	0	0	0.184627	0	5	434					A	37144919	G	A	37144919	2	1	22	1	0	0	0	0	0	0	0	1	13015	1074	38	1		1	RALGAPB	20	37144919	Silent	SNP	G	TCGA-CH-5750-01A-11D-1576-08		37144919	25880601	71	946											
DIDO1	11083	broad.mit.edu	37	chr20	61525227	61525227	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcggtcctggggtcccggccGgacactgtgacggtggtgac	4	7	18	12	4	0	2	0	2	0	0	2	3	2	3	3	7	0	0	3	7	0	0	rs111520535	byFrequency	TCGA-CH-5750-01A-11D-1576-08	TCGA-CH-5750-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b169c3-44e0-43e5-9ee3-2df7a678a5ea	69ebe1ab-c416-4473-8d82-91b475b206d4	g.chr20:61525227G>A	ENST00000266070.4	-	12	3217	c.2892C>T	c.(2890-2892)tcC>tcT	p.S964S	DIDO1_ENST00000395335.2_Silent_p.S964S|DIDO1_ENST00000395340.1_Silent_p.S964S|DIDO1_ENST00000395343.1_Silent_p.S964S	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	964					apoptotic signaling pathway (GO:0097190)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.S964S(1)		NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					GGTCCCGGCCGGACACTGTGA	0.687													G|||	2	0.000399361	8e-04	0.0014	5008	,	,		16039	0		0	False		,,,				2504	0				Melanoma(25;381 482 3385 5362 7955 17159 17174 40604 47095)	ENST00000266070.4																			1	Substitution - coding silent(1)	p.S964S(1)	prostate(1)	NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99						c.(2890-2892)tcC>tcT		death inducer-obliterator 1		G	,,,	11,4395	19.1+/-41.9	0,11,2192	56	56	56		2892,2892,2892,2892	-9.8	0.1	20	dbSNP_132	56	1,8597	1.2+/-3.3	0,1,4298	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	DIDO1	NM_001193369.1,NM_001193370.1,NM_033081.2,NM_080797.3	,,,	0,12,6490	AA,AG,GG		0.0116,0.2497,0.0923	,,,	964/2241,964/1190,964/2241,964/1190	61525227	12,12992	2203	4299	6502	SO:0001819	synonymous_variant	11083				apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding	g.chr20:61525227G>A	AB002331	CCDS13508.2, CCDS13509.1, CCDS33506.1	20q13.33	2013-01-28	2005-11-11	2005-11-11	ENSG00000101191	ENSG00000101191		"Zinc fingers, PHD-type"	2680	protein-coding gene	gene with protein product		604140	"chromosome 20 open reading frame 158", "death associated transcription factor 1"	C20orf158, DATF1		10393935	Standard	NM_033081		Approved	DIO1, dJ885L7.8, FLJ11265, KIAA0333, DIO-1, BYE1	uc002ydr.2	Q9BTC0	OTTHUMG00000032945	ENST00000266070.4:c.2892C>T	20.37:g.61525227G>A						DIDO1_ENST00000395335.2_Silent_p.S964S|DIDO1_ENST00000395343.1_Silent_p.S964S|DIDO1_ENST00000395340.1_Silent_p.S964S	p.S964S	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN			12	3217	-	Breast(26;5.68e-08)		964					A8MY65|B9EH82|E1P5I1|O15043|Q3ZTL7|Q3ZTL8|Q4VXS1|Q4VXS2|Q4VXV8|Q4VXV9|Q96D72|Q9BQW0|Q9BW03|Q9H4G6|Q9H4G7|Q9NTU8|Q9NUM8|Q9UFB6	Silent	SNP	ENST00000266070.4	37	c.2892C>T	CCDS33506.1																																																																																				0.687	DIDO1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080091.2	NM_080796		4	138	0	0	0	0.150653	0	4	138					A	61525227	G	A	61525227	2	1	22	1	0	0	0	0	0	0	0	1	4522	1103	39	2		2	DIDO1	20	61525227	Silent	SNP	G	TCGA-CH-5750-01A-11D-1576-08	24380308	61525227	1500293	72	947											
B3GALT5	10317	broad.mit.edu	37	chr21	41032741	41032741	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acgtgggggaaagagaggatGgtgaagggaaagcagctgaa	15	4	19	3	1	0	3	0	2	0	1	0	7	0	6	0	5	2	2	0	5	4	0			TCGA-CH-5750-01A-11D-1576-08	TCGA-CH-5750-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b169c3-44e0-43e5-9ee3-2df7a678a5ea	69ebe1ab-c416-4473-8d82-91b475b206d4	g.chr21:41032741G>C	ENST00000380620.4	+	5	847	c.255G>C	c.(253-255)atG>atC	p.M85I	B3GALT5_ENST00000398714.2_Missense_Mutation_p.M85I|B3GALT5_ENST00000380618.1_Missense_Mutation_p.M85I|AF064860.5_ENST00000416555.1_RNA|B3GALT5_ENST00000343118.4_Missense_Mutation_p.M85I			Q9Y2C3	B3GT5_HUMAN	UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 5	85			M -> T (in dbSNP:rs3746887). {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334, ECO:0000269|Ref.3, ECO:0000269|Ref.7, ECO:0000269|Ref.9}.		protein glycosylation (GO:0006486)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity (GO:0008499)	p.M85I(2)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	16		Prostate(19;2.55e-06)				AAGAGAGGATGGTGAAGGGAA	0.602																																						ENST00000380620.3																			2	Substitution - Missense(2)	p.M85I(2)	large_intestine(1)|prostate(1)	breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	16						c.(253-255)atG>atC		UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 5							60	55	57					21																	41032741		2203	4300	6503	SO:0001583	missense	10317				protein glycosylation	endoplasmic reticulum|Golgi membrane|integral to membrane	UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity	g.chr21:41032741G>C	AB020337	CCDS13667.1, CCDS74795.1	21q22.3	2013-02-19			ENSG00000183778	ENSG00000183778		"Beta 3-glycosyltransferases"	920	protein-coding gene	gene with protein product	"homolog of C. elegans Bt toxin resistance gene bre-5", "GlcNAc-beta-1,3-galactosyltransferase 5"	604066				10212226	Standard	NM_006057		Approved	beta3Gal-T5, B3GalT-V, GLCT5, B3T5	uc002yyj.1	Q9Y2C3	OTTHUMG00000086725	ENST00000380620.4:c.255G>C	21.37:g.41032741G>C	ENSP00000369994:p.Met85Ile					B3GALT5_ENST00000398714.2_Missense_Mutation_p.M85I|B3GALT5_ENST00000380618.1_Missense_Mutation_p.M85I|AF064860.5_ENST00000416555.1_RNA|B3GALT5_ENST00000343118.4_Missense_Mutation_p.M85I	p.M85I			Q9Y2C3	B3GT5_HUMAN			5	847	+		Prostate(19;2.55e-06)	85		M -> T (in dbSNP:rs3746887).			A8KA86|D3DSI3|Q2M3L5|Q53Z19|Q9NY96|Q9P1X6|Q9P1X7	Missense_Mutation	SNP	ENST00000380620.4	37	c.255G>C	CCDS13667.1	.	.	.	.	.	.	.	.	.	.	G	10.27	1.302710	0.23736	.	.	ENSG00000183778	ENST00000380620;ENST00000380618;ENST00000343118;ENST00000398714	T;T;T;T	0.41065	1.01;1.01;1.01;1.01	5.89	-11.8	0.00035	.	3.016860	0.01379	N	0.012860	T	0.12732	0.0309	N	0.02539	-0.55	0.09310	N	1	B	0.02656	0.0	B	0.10450	0.005	T	0.30149	-0.9988	10	0.37606	T	0.19	.	0.4807	0.00547	0.2459:0.1616:0.2666:0.3259	.	85	Q9Y2C3	B3GT5_HUMAN	I	85	ENSP00000369994:M85I;ENSP00000369992:M85I;ENSP00000343318:M85I;ENSP00000381699:M85I	ENSP00000343318:M85I	M	+	3	0	B3GALT5	39954611	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-3.471000	0.00460	-2.712000	0.00393	-0.809000	0.03173	ATG		0.602	B3GALT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195008.2	NM_033170		4	101	0	0	0	0.150653	0	4	101					C	41032741	G	C	41032741	3	2	22	1	0	0	0	0	1	0	0	0	1250	1348	47	5	257	5	B3GALT5	21	41032741	Missense_Mutation	SNP	G	TCGA-CH-5750-01A-11D-1576-08		41032741	7097154	73	948											
EFCAB6	64800	broad.mit.edu	37	chr22	44022442	44022442	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gccaagaaggccaaggaagcGctcaaactcgtcgtctttga	12	7	11	11	3	2	2	1	1	1	1	4	3	2	3	2	2	2	1	2	2	5	1			TCGA-CH-5750-01A-11D-1576-08	TCGA-CH-5750-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b169c3-44e0-43e5-9ee3-2df7a678a5ea	69ebe1ab-c416-4473-8d82-91b475b206d4	g.chr22:44022442G>A	ENST00000262726.7	-	20	2603	c.2350C>T	c.(2350-2352)Cgc>Tgc	p.R784C	EFCAB6_ENST00000396231.2_Missense_Mutation_p.R632C	NM_022785.3	NP_073622.2	Q5THR3	EFCB6_HUMAN	EF-hand calcium binding domain 6	784					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	calcium ion binding (GO:0005509)	p.R784C(1)		breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68		Ovarian(80;0.0247)|all_neural(38;0.025)				CCAAGGAAGCGCTCAAACTCG	0.438																																						ENST00000262726.7																			1	Substitution - Missense(1)	p.R784C(1)	prostate(1)	breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68						c.(2350-2352)Cgc>Tgc		EF-hand calcium binding domain 6							92	87	89					22																	44022442		2203	4300	6503	SO:0001583	missense	64800				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	calcium ion binding	g.chr22:44022442G>A	Z82201	CCDS14049.1, CCDS14050.1	22q13.2	2013-01-10			ENSG00000186976	ENSG00000186976		"EF-hand domain containing"	24204	protein-coding gene	gene with protein product						11258795, 12612053	Standard	NM_022785		Approved	FLJ23588, DJBP, HSCBCIP1, KIAA1672, dJ185D5.1	uc003bdy.2	Q5THR3	OTTHUMG00000150522	ENST00000262726.7:c.2350C>T	22.37:g.44022442G>A	ENSP00000262726:p.Arg784Cys					EFCAB6_ENST00000396231.2_Missense_Mutation_p.R632C	p.R784C	NM_022785.3	NP_073622.2	Q5THR3	EFCB6_HUMAN			20	2603	-		Ovarian(80;0.0247)|all_neural(38;0.025)	784					A8K8P6|A8K8Y3|B0QYI4|B0QYI6|Q5U5T6|Q9BY88|Q9H5C4|Q9NSF5	Missense_Mutation	SNP	ENST00000262726.7	37	c.2350C>T	CCDS14049.1	.	.	.	.	.	.	.	.	.	.	G	17.70	3.453510	0.63290	.	.	ENSG00000186976	ENST00000396231;ENST00000262726	T;T	0.08896	3.04;3.04	4.84	4.84	0.62591	EF-hand-like domain (1);	0.000000	0.64402	D	0.000004	T	0.24812	0.0602	L	0.56769	1.78	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.992;0.996	T	0.00200	-1.1927	10	0.46703	T	0.11	-22.0086	14.9589	0.71141	0.0:0.0:1.0:0.0	.	632;784	Q5THR3-2;Q5THR3	.;EFCB6_HUMAN	C	632;784	ENSP00000379533:R632C;ENSP00000262726:R784C	ENSP00000262726:R784C	R	-	1	0	EFCAB6	42353775	0.642000	0.27260	0.996000	0.52242	0.556000	0.35491	4.700000	0.61803	2.497000	0.84241	0.563000	0.77884	CGC		0.438	EFCAB6-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353176.1	NM_022785		30	128	0	0	0	0.729181	0	30	128					A	44022442	G	A	44022442	3	1	22	1	0	0	0	0	1	0	0	0	4939	1087	38	1	2207	1	EFCAB6	22	44022442	Missense_Mutation	SNP	G	TCGA-CH-5750-01A-11D-1576-08		44022442	7282124	74	949											
RLIM	51132	broad.mit.edu	37	chrX	73811938	73811938	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtcattatctgccttaacatGgtctgaattgcaacagatgt	11	14	8	8	0	3	2	1	1	2	1	3	2	3	2	1	1	4	1	1	1	4	3	rs61754468		TCGA-CH-5750-01A-11D-1576-08	TCGA-CH-5750-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b169c3-44e0-43e5-9ee3-2df7a678a5ea	69ebe1ab-c416-4473-8d82-91b475b206d4	g.chrX:73811938G>C	ENST00000332687.6	-	4	1430	c.1212C>G	c.(1210-1212)acC>acG	p.T404T	RLIM_ENST00000349225.2_Silent_p.T404T	NM_016120.3	NP_057204.2	Q9NVW2	RNF12_HUMAN	ring finger protein, LIM domain interacting	404					negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|protein ubiquitination (GO:0016567)|random inactivation of X chromosome (GO:0060816)|transcription, DNA-templated (GO:0006351)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	ligase activity (GO:0016874)|transcription corepressor activity (GO:0003714)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.T404T(6)		breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						GCCTTAACATGGTCTGAATTG	0.413																																					Esophageal Squamous(169;1899 1923 14997 18818 32118)	ENST00000332687.6																			6	Substitution - coding silent(6)	p.T404T(6)	lung(3)|urinary_tract(1)|kidney(1)|endometrium(1)	breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						c.(1210-1212)acC>acG		ring finger protein, LIM domain interacting							102	92	95					X																	73811938		2203	4300	6503	SO:0001819	synonymous_variant	51132				random inactivation of X chromosome|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	cytoplasm|transcriptional repressor complex	transcription corepressor activity|ubiquitin-protein ligase activity|zinc ion binding	g.chrX:73811938G>C	AF155109	CCDS14427.1	Xq13-q21	2013-01-09	2009-02-17	2009-02-17	ENSG00000131263	ENSG00000131263		"RING-type (C3HC4) zinc fingers"	13429	protein-coding gene	gene with protein product	"ring zinc finger protein NY-REN-43antigen", "LIM domain interacting ring finger protein"	300379	"ring finger protein 12"	RNF12		10508479	Standard	NM_016120		Approved	NY-REN-43, MGC15161	uc004ebw.3	Q9NVW2	OTTHUMG00000021859	ENST00000332687.6:c.1212C>G	X.37:g.73811938G>C						RLIM_ENST00000349225.2_Silent_p.T404T	p.T404T	NM_016120.3	NP_057204.2	Q9NVW2	RNF12_HUMAN			4	1430	-			404					B2RBQ1|D3DTE0|Q96D38|Q9Y598	Silent	SNP	ENST00000332687.6	37	c.1212C>G	CCDS14427.1																																																																																				0.413	RLIM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057268.1	NM_016120		5	148	0	0	0	0.184627	0	5	148					C	73811938	G	C	73811938	2	2	22	1	0	0	0	0	0	0	0	1	13390	1335	47	5		5	RLIM	23	73811938	Silent	SNP	G	TCGA-CH-5750-01A-11D-1576-08		73811938	81458622	75	950											
MAGEC3	139081	broad.mit.edu	37	chrX	140985038	140985038	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gactattttcccatgatcttCgggaaagcccatgagttcat	10	13	8	10	1	2	2	1	2	1	0	4	4	3	3	2	1	1	1	2	1	2	5			TCGA-CH-5750-01A-11D-1576-08	TCGA-CH-5750-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b169c3-44e0-43e5-9ee3-2df7a678a5ea	69ebe1ab-c416-4473-8d82-91b475b206d4	g.chrX:140985038C>T	ENST00000298296.1	+	7	1494	c.1494C>T	c.(1492-1494)ttC>ttT	p.F498F	MAGEC3_ENST00000409007.1_Silent_p.F200F|MAGEC3_ENST00000536088.1_Silent_p.F200F|MAGEC3_ENST00000544766.1_Silent_p.F200F|MAGEC3_ENST00000443323.2_Silent_p.F120F	NM_138702.1	NP_619647.1	Q8TD91	MAGC3_HUMAN	melanoma antigen family C, 3	498	MAGE 2. {ECO:0000255|PROSITE- ProRule:PRU00127}.							p.F498F(1)|p.F200F(1)		NS(2)|breast(3)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|liver(1)|lung(32)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(2)	69	Acute lymphoblastic leukemia(192;6.56e-05)					CCATGATCTTCGGGAAAGCCC	0.423																																						ENST00000298296.1																			2	Substitution - coding silent(2)	p.F498F(1)|p.F200F(1)	prostate(2)	NS(2)|breast(3)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|liver(1)|lung(32)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(2)	69						c.(1492-1494)ttC>ttT		melanoma antigen family C, 3							134	131	132					X																	140985038		2203	4300	6503	SO:0001819	synonymous_variant	139081							g.chrX:140985038C>T	AF490508	CCDS14676.1, CCDS14677.1	Xq27.2	2009-03-25			ENSG00000165509	ENSG00000165509			23798	protein-coding gene	gene with protein product	"cancer/testis antigen family 7, member 2"	300469				10861452	Standard	NM_138702		Approved	HCA2, MAGE-C3, CT7.2	uc011mwp.2	Q8TD91	OTTHUMG00000022570	ENST00000298296.1:c.1494C>T	X.37:g.140985038C>T						MAGEC3_ENST00000536088.1_Silent_p.F200F|MAGEC3_ENST00000443323.2_Silent_p.F120F|MAGEC3_ENST00000544766.1_Silent_p.F200F|MAGEC3_ENST00000409007.1_Silent_p.F200F	p.F498F	NM_138702.1	NP_619647.1	Q8TD91	MAGC3_HUMAN			7	1494	+	Acute lymphoblastic leukemia(192;6.56e-05)		498			MAGE 2.		Q3SYA7|Q5JZ43|Q9BZ80	Silent	SNP	ENST00000298296.1	37	c.1494C>T	CCDS14676.1																																																																																				0.423	MAGEC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058606.1	NM_138702		10	180	0	0	0	0.38729	0	10	180					T	140985038	C	T	140985038	2	4	22	1	0	0	0	0	0	0	0	1	9182	883	31	2		2	MAGEC3	23	140985038	Silent	SNP	C	TCGA-CH-5750-01A-11D-1576-08	67173100	140985038	14285522	76	951											
GBP7	388646	broad.mit.edu	37	chr1	89630482	89630482	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gtttggcttggaggggtgggGcacacaccacatccagatgc	8	8	15	10	0	0	1	0	0	0	1	1	2	1	2	2	6	1	3	2	6	0	2	rs146946502		TCGA-CH-5751-01A-11D-1576-08	TCGA-CH-5751-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	072e5acd-3329-42b8-9aec-d6166ac61e35	0e96e352-8a8f-4960-ad33-d64018480ff1	g.chr1:89630482G>A	ENST00000294671.2	-	3	388	c.250C>T	c.(250-252)Ccc>Tcc	p.P84S		NM_207398.2	NP_997281.2	Q8N8V2	GBP7_HUMAN	guanylate binding protein 7	84	GB1/RHD3-type G.|GTPase domain (Globular). {ECO:0000250}.					membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		Lung NSC(277;0.0908)		all cancers(265;0.00835)|Epithelial(280;0.0322)		GAGGGGTGGGGCACACACCAC	0.498																																						ENST00000294671.2																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(250-252)Ccc>Tcc		guanylate binding protein 7							108	101	103					1																	89630482		2203	4300	6503	SO:0001583	missense	388646					integral to membrane	GTP binding|GTPase activity	g.chr1:89630482G>A	AK096141	CCDS720.1	1p22.2	2008-02-05			ENSG00000213512	ENSG00000213512			29606	protein-coding gene	gene with protein product		612468					Standard	NM_207398		Approved	FLJ38822, GBP4L	uc001dna.2	Q8N8V2	OTTHUMG00000010659	ENST00000294671.2:c.250C>T	1.37:g.89630482G>A	ENSP00000294671:p.Pro84Ser						p.P84S	NM_207398.2	NP_997281.2	Q8N8V2	GBP7_HUMAN		all cancers(265;0.00835)|Epithelial(280;0.0322)	3	388	-		Lung NSC(277;0.0908)	84						Missense_Mutation	SNP	ENST00000294671.2	37	c.250C>T	CCDS720.1	.	.	.	.	.	.	.	.	.	.	G	18.88	3.718131	0.68844	.	.	ENSG00000213512	ENST00000294671	T	0.76060	-0.99	3.62	3.62	0.41486	Guanylate-binding protein, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.84889	0.5572	M	0.91768	3.24	0.37918	D	0.931603	D	0.59767	0.986	D	0.66084	0.941	D	0.88354	0.2983	10	0.72032	D	0.01	.	13.1291	0.59371	0.0:0.0:1.0:0.0	.	84	Q8N8V2	GBP7_HUMAN	S	84	ENSP00000294671:P84S	ENSP00000294671:P84S	P	-	1	0	GBP7	89403070	1.000000	0.71417	0.359000	0.25824	0.863000	0.49368	5.421000	0.66447	2.008000	0.58898	0.462000	0.41574	CCC		0.498	GBP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029401.1	NM_207398		4	90	0	0	0	1	0	4	90					A	89630482	G	A	89630482	3	1	23	1	0	0	0	0	1	0	0	0	6279	1203	42	3	1702	3	GBP7	1	89630482	Missense_Mutation	SNP	G	TCGA-CH-5751-01A-11D-1576-08		89630482	159620139	1	952											
TRIM33	51592	broad.mit.edu	37	chr1	115005788	115005788	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aatctatcacatgtttcacaGaaaagtttcaactgttcttg	13	15	5	8	0	5	1	3	0	2	1	5	1	5	1	0	0	1	3	0	0	5	5			TCGA-CH-5751-01A-11D-1576-08	TCGA-CH-5751-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	072e5acd-3329-42b8-9aec-d6166ac61e35	0e96e352-8a8f-4960-ad33-d64018480ff1	g.chr1:115005788G>A	ENST00000358465.2	-	4	944	c.861C>T	c.(859-861)ttC>ttT	p.F287F	TRIM33_ENST00000369543.2_Silent_p.F287F|TRIM33_ENST00000450349.2_5'UTR	NM_015906.3	NP_056990.3	Q9UPN9	TRI33_HUMAN	tripartite motif containing 33	287					gene expression (GO:0010467)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|protein ubiquitination (GO:0016567)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	co-SMAD binding (GO:0070410)|DNA binding (GO:0003677)|ligase activity (GO:0016874)|R-SMAD binding (GO:0070412)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.F287F(2)		breast(2)|central_nervous_system(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	48	all_epithelial(7;0.000132)|all_lung(7;0.00106)|Lung SC(450;0.184)	all_cancers(81;3.03e-08)|all_epithelial(167;3.24e-08)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		ATGTTTCACAGAAAAGTTTCA	0.353			T	RET	papillary thyroid																																	ENST00000358465.2				Dom	yes		1	1p13	51592	T	" tripartite motif-containing 33 (PTC7,TIF1G)"			E	RET		papillary thyroid		2	Substitution - coding silent(2)	p.F287F(2)	prostate(2)	breast(2)|central_nervous_system(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	48						c.(859-861)ttC>ttT		tripartite motif containing 33							84	77	79					1																	115005788		2203	4300	6503	SO:0001819	synonymous_variant	51592				negative regulation of BMP signaling pathway|negative regulation of transcription, DNA-dependent|protein ubiquitination|regulation of transforming growth factor beta receptor signaling pathway|transcription, DNA-dependent	nucleus	co-SMAD binding|DNA binding|ligase activity|R-SMAD binding|zinc ion binding	g.chr1:115005788G>A	AF220136	CCDS872.1, CCDS873.1	1p13.1	2014-02-17	2011-01-25		ENSG00000197323	ENSG00000197323		"Tripartite motif containing / Tripartite motif containing", "Zinc fingers, PHD-type", "RING-type (C3HC4) zinc fingers"	16290	protein-coding gene	gene with protein product	"transcriptional intermediary factor 1 gamma", "ret-fused gene 7"	605769	"tripartite motif-containing 33"			11331580, 10022127	Standard	XM_005270936		Approved	TIF1GAMMA, FLJ11429, KIAA1113, TIFGAMMA, RFG7, TF1G, TIF1G, PTC7	uc001eew.3	Q9UPN9	OTTHUMG00000011891	ENST00000358465.2:c.861C>T	1.37:g.115005788G>A						TRIM33_ENST00000450349.2_5'UTR|TRIM33_ENST00000369543.2_Silent_p.F287F	p.F287F	NM_015906.3	NP_056990.3	Q9UPN9	TRI33_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	4	944	-	all_epithelial(7;0.000132)|all_lung(7;0.00106)|Lung SC(450;0.184)	all_cancers(81;3.03e-08)|all_epithelial(167;3.24e-08)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)	287					O95855|Q5TG72|Q5TG73|Q5TG74|Q9C017|Q9UJ79	Silent	SNP	ENST00000358465.2	37	c.861C>T	CCDS872.1	.	.	.	.	.	.	.	.	.	.	G	9.938	1.216737	0.22373	.	.	ENSG00000197323	ENST00000448034	.	.	.	5.67	2.75	0.32379	.	.	.	.	.	T	0.41073	0.1143	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.30297	-0.9983	4	.	.	.	-4.393	6.9233	0.24401	0.2018:0.1247:0.6735:0.0	.	.	.	.	F	24	.	.	S	-	2	0	TRIM33	114807311	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.113000	0.57851	0.738000	0.32606	0.655000	0.94253	TCT		0.353	TRIM33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032854.1	NM_015906		5	74	0	0	0	1	0	5	74					A	115005788	G	A	115005788	2	1	23	1	0	0	0	0	0	0	0	1	16504	933	33	3		3	TRIM33	1	115005788	Silent	SNP	G	TCGA-CH-5751-01A-11D-1576-08	25375306	115005788	134244833	2	953											
ITGA10	8515	broad.mit.edu	37	chr1	145530284	145530284	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	taggctgcccaacatacatgGatgttgtcattgtcttggat	9	14	10	8	0	2	0	1	0	1	0	2	2	2	2	1	3	3	2	1	3	3	5			TCGA-CH-5751-01A-11D-1576-08	TCGA-CH-5751-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	072e5acd-3329-42b8-9aec-d6166ac61e35	0e96e352-8a8f-4960-ad33-d64018480ff1	g.chr1:145530284G>T	ENST00000369304.3	+	6	674	c.499G>T	c.(499-501)Gat>Tat	p.D167Y	ITGA10_ENST00000538811.1_Missense_Mutation_p.D36Y|ITGA10_ENST00000539363.1_Missense_Mutation_p.D24Y	NM_003637.3	NP_003628.2	O75578	ITA10_HUMAN	integrin, alpha 10	167	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)	integrin alpha10-beta1 complex (GO:0034680)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	collagen binding (GO:0005518)|collagen binding involved in cell-matrix adhesion (GO:0098639)|metal ion binding (GO:0046872)	p.D167Y(2)		NS(1)|breast(2)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					AACATACATGGATGTTGTCAT	0.498																																						ENST00000369304.3																			2	Substitution - Missense(2)	p.D167Y(2)	prostate(2)	NS(1)|breast(2)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59						c.(499-501)Gat>Tat		integrin, alpha 10							224	175	191					1																	145530284		2203	4300	6503	SO:0001583	missense	8515				cell-matrix adhesion|integrin-mediated signaling pathway	integrin complex	collagen binding|receptor activity	g.chr1:145530284G>T	AF074015	CCDS72869.1	1q21.1	2010-03-23			ENSG00000143127	ENSG00000143127		"Integrins"	6135	protein-coding gene	gene with protein product		604042				9685391, 10702680	Standard	NM_003637		Approved		uc001eoa.3	O75578	OTTHUMG00000013751	ENST00000369304.3:c.499G>T	1.37:g.145530284G>T	ENSP00000358310:p.Asp167Tyr					ITGA10_ENST00000539363.1_Missense_Mutation_p.D24Y|ITGA10_ENST00000538811.1_Missense_Mutation_p.D36Y	p.D167Y	NM_003637.3	NP_003628.2	O75578	ITA10_HUMAN			6	674	+	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		167			VWFA.		B2RAM4|B2RTV5|Q6UXJ6|Q9UHZ8	Missense_Mutation	SNP	ENST00000369304.3	37	c.499G>T	CCDS918.1	.	.	.	.	.	.	.	.	.	.	G	24.7	4.559049	0.86335	.	.	ENSG00000143127	ENST00000369304;ENST00000543043;ENST00000539363;ENST00000538811	T;T;T	0.77229	-1.08;-1.08;-1.08	5.22	5.22	0.72569	von Willebrand factor, type A (3);	0.000000	0.64402	D	0.000001	D	0.90645	0.7066	H	0.95365	3.66	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	D	0.93183	0.6576	10	0.87932	D	0	.	16.2851	0.82714	0.0:0.0:1.0:0.0	.	133;36;24;167	F5H3T9;F5GY13;B2RTV5;O75578	.;.;.;ITA10_HUMAN	Y	167;133;24;36	ENSP00000358310:D167Y;ENSP00000439894:D24Y;ENSP00000440011:D36Y	ENSP00000358310:D167Y	D	+	1	0	ITGA10	144241641	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	9.336000	0.96533	2.452000	0.82932	0.650000	0.86243	GAT		0.498	ITGA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038537.2	NM_003637		7	205	1	0	0.00448238	1	0.00480255	7	205					T	145530284	G	T	145530284	3	4	23	1	0	0	0	0	1	0	0	0	7873	1174	41	5	521	5	ITGA10	1	145530284	Missense_Mutation	SNP	G	TCGA-CH-5751-01A-11D-1576-08	30524496	145530284	103720337	3	954											
ETV3	2117	broad.mit.edu	37	chr1	157104016	157104017	+	Frame_Shift_Ins	INS	-	-	T																															ggatcctcttgttgtaatagINStatctgtaaaaacaggaata																										TCGA-CH-5751-01A-11D-1576-08	TCGA-CH-5751-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	072e5acd-3329-42b8-9aec-d6166ac61e35	0e96e352-8a8f-4960-ad33-d64018480ff1	g.chr1:157104016_157104017insT	ENST00000368192.4	-	4	351_352	c.287_288insA	c.(286-288)tacfs	p.Y96fs	ETV3_ENST00000326786.4_Frame_Shift_Ins_p.Y96fs|ETV3_ENST00000460850.1_5'Flank	NM_001145312.1	NP_001138784.1	P41162	ETV3_HUMAN	ets variant 3	96					cell differentiation (GO:0030154)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|prostate(2)	9	Hepatocellular(266;0.158)	Prostate(1639;0.174)				TGTTGTAATAGTATCTGTAAAA	0.371																																						ENST00000368192.4																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|prostate(2)	9						c.(286-288)ttafs		ets variant 3																																				SO:0001589	frameshift_variant	2117						sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr1:157104016_157104017insT	BC022868	CCDS1164.1, CCDS44250.1	1q21-q23	2008-09-12	2008-09-12		ENSG00000117036	ENSG00000117036			3492	protein-coding gene	gene with protein product		164873	"ets variant gene 3, ETS family transcriptional repressor", "ets variant gene 3"			8020980	Standard	NM_005240		Approved	PE-1	uc001fqr.2	P41162	OTTHUMG00000034298	ENST00000368192.4:c.288dupA	1.37:g.157104017_157104017dupT	ENSP00000357175:p.Tyr96fs					ETV3_ENST00000326786.4_Frame_Shift_Ins_p.L96fs	p.L96fs	NM_001145312.1	NP_001138784.1	P41162	ETV3_HUMAN			4	351_352	-	Hepatocellular(266;0.158)	Prostate(1639;0.174)	96					B4E3M7|Q8TAC8|Q9BX30	Frame_Shift_Ins	INS	ENST00000368192.4	37	c.287_288insA	CCDS44250.1																																																																																				0.371	ETV3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000082843.2	NM_005240		46	39						46	39	---	---	---	---	T	157104017	-	T	157104016	7	5	23	1	0	1	1	0	0	0	0	0	5279	1024	36	0	1290	0	ETV3	1	157104016	Frame_Shift_Ins	INS	-	TCGA-CH-5751-01A-11D-1576-08	11573732	157104016	92146605	4	955											
TTN	7273	broad.mit.edu	37	chr2	179426189	179426189	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atatacacgatactcatacaTcagtccttcatcaaggccgg	13	10	6	12	2	4	0	4	0	0	0	5	1	5	0	2	2	3	0	2	2	5	5			TCGA-CH-5751-01A-11D-1576-08	TCGA-CH-5751-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	072e5acd-3329-42b8-9aec-d6166ac61e35	0e96e352-8a8f-4960-ad33-d64018480ff1	g.chr2:179426189T>G	ENST00000591111.1	-	276	79971	c.79747A>C	c.(79747-79749)Atg>Ctg	p.M26583L	TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.M19284L|TTN_ENST00000460472.2_Missense_Mutation_p.M19159L|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.M19351L|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.M28224L|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.M25656L|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000591332.1_RNA			Q8WZ42	TITIN_HUMAN	titin	26583	Fibronectin type-III 93. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.M19159L(2)|p.M19351L(1)|p.M25656L(1)|p.M19284L(1)|p.M25654L(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TACTCATACATCAGTCCTTCA	0.398																																						ENST00000589042.1																			6	Substitution - Missense(6)	p.M19159L(2)|p.M19351L(1)|p.M25656L(1)|p.M19284L(1)|p.M25654L(1)	prostate(6)	NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(84670-84672)Atg>Ctg		titin							128	119	122					2																	179426189		1891	4133	6024	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179426189T>G	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.79747A>C	2.37:g.179426189T>G	ENSP00000465570:p.Met26583Leu					TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.M19159L|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.M25656L|TTN_ENST00000342175.6_Missense_Mutation_p.M19351L|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.M26583L|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.M19284L	p.M28224L	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		326	84894	-			26583			Ig-like 131.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.84670A>C		.	.	.	.	.	.	.	.	.	.	T	11.16	1.556568	0.27827	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.55930	0.49;0.49;0.49;0.49	5.91	-1.66	0.08265	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.29684	0.0741	N	0.12920	0.275	0.33742	D	0.619601	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.04013	0.001;0.001;0.001;0.001	T	0.09818	-1.0657	9	0.87932	D	0	.	4.9091	0.13812	0.1074:0.0612:0.3266:0.5048	.	19159;19284;19351;26583	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	L	25656;19159;19351;19284;19157	ENSP00000343764:M25656L;ENSP00000434586:M19159L;ENSP00000340554:M19351L;ENSP00000352154:M19284L	ENSP00000340554:M19351L	M	-	1	0	TTN	179134435	0.000000	0.05858	0.965000	0.40720	0.986000	0.74619	-0.417000	0.07088	-0.489000	0.06716	0.477000	0.44152	ATG		0.398	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		74	149	0	0	0	1	0	74	149					G	179426189	T	G	179426189	3	3	23	1	0	0	0	0	1	0	0	0	16732	1435	50	5	23457	5	TTN	2	179426189	Missense_Mutation	SNP	T	TCGA-CH-5751-01A-11D-1576-08		179426189	63773184	5	956											
KLHL18	23276	broad.mit.edu	37	chr3	47361170	47361170	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	accacaaattcagtgcccacCggattgtcttagcagcctcg	10	9	8	14	2	2	0	1	0	1	0	3	1	2	1	4	1	3	1	4	1	2	3			TCGA-CH-5751-01A-11D-1576-08	TCGA-CH-5751-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	072e5acd-3329-42b8-9aec-d6166ac61e35	0e96e352-8a8f-4960-ad33-d64018480ff1	g.chr3:47361170C>T	ENST00000232766.5	+	2	177	c.157C>T	c.(157-159)Cgg>Tgg	p.R53W	KLHL18_ENST00000455924.2_Intron	NM_025010.4	NP_079286.2	O94889	KLH18_HUMAN	kelch-like family member 18	53								p.R53W(1)		endometrium(2)|kidney(1)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	21		Acute lymphoblastic leukemia(5;0.164)		BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00645)|Kidney(197;0.00741)		CAGTGCCCACCGGATTGTCTT	0.418																																						ENST00000232766.5																			1	Substitution - Missense(1)	p.R53W(1)	prostate(1)	endometrium(2)|kidney(1)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	21						c.(157-159)Cgg>Tgg		kelch-like family member 18							183	165	171					3																	47361170		2203	4300	6503	SO:0001583	missense	23276							g.chr3:47361170C>T	AB018338	CCDS33749.1	3p21	2013-01-30	2013-01-30		ENSG00000114648	ENSG00000114648		"Kelch-like", "BTB/POZ domain containing"	29120	protein-coding gene	gene with protein product			"kelch-like 18 (Drosophila)"			9872452	Standard	NM_025010		Approved	KIAA0795, FLJ13703	uc003crd.3	O94889	OTTHUMG00000156522	ENST00000232766.5:c.157C>T	3.37:g.47361170C>T	ENSP00000232766:p.Arg53Trp					KLHL18_ENST00000455924.2_Intron	p.R53W	NM_025010.4	NP_079286.2	O94889	KLH18_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00645)|Kidney(197;0.00741)	2	177	+		Acute lymphoblastic leukemia(5;0.164)	53					A8K612|Q7Z3E8|Q8N125	Missense_Mutation	SNP	ENST00000232766.5	37	c.157C>T	CCDS33749.1	.	.	.	.	.	.	.	.	.	.	C	24.1	4.490564	0.84962	.	.	ENSG00000114648	ENST00000232766;ENST00000437353	T;T	0.75477	-0.94;-0.94	5.81	4.86	0.63082	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.000000	0.85682	D	0.000000	D	0.91962	0.7454	H	0.98951	4.38	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.94800	0.7970	10	0.87932	D	0	.	16.7526	0.85490	0.1376:0.8624:0.0:0.0	.	53	O94889	KLH18_HUMAN	W	53	ENSP00000232766:R53W;ENSP00000411839:R53W	ENSP00000232766:R53W	R	+	1	2	KLHL18	47336174	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	2.973000	0.49264	2.757000	0.94681	0.650000	0.86243	CGG		0.418	KLHL18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344493.1	NM_025010		60	170	0	0	0	1	0	60	170					T	47361170	C	T	47361170	3	4	23	1	0	0	0	0	1	0	0	0	8373	643	23	2	163	2	KLHL18	3	47361170	Missense_Mutation	SNP	C	TCGA-CH-5751-01A-11D-1576-08		47361170	150661260	6	957											
TMPRSS7	344805	broad.mit.edu	37	chr3	111795794	111795794	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaatgccaagtttgtctcccCggtgagaagaattgtggtcc	9	11	12	9	1	1	2	0	1	1	2	3	4	2	2	4	2	1	1	4	2	4	2			TCGA-CH-5751-01A-11D-1576-08	TCGA-CH-5751-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	072e5acd-3329-42b8-9aec-d6166ac61e35	0e96e352-8a8f-4960-ad33-d64018480ff1	g.chr3:111795794C>T	ENST00000452346.2	+	16	2030	c.2027C>T	c.(2026-2028)cCg>cTg	p.P676L	TMPRSS7_ENST00000419127.1_Missense_Mutation_p.P550L			Q7RTY8	TMPS7_HUMAN	transmembrane protease, serine 7	676	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				proteolysis (GO:0006508)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)	p.P405L(1)|p.P550L(1)		breast(2)|endometrium(6)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						TTTGTCTCCCCGGTGAGAAGA	0.453																																						ENST00000452346.2																			2	Substitution - Missense(2)	p.P405L(1)|p.P550L(1)	prostate(2)	breast(2)|endometrium(6)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						c.(2026-2028)cCg>cTg		transmembrane protease, serine 7							215	205	208					3																	111795794		1961	4167	6128	SO:0001583	missense	344805				proteolysis	integral to membrane|plasma membrane	serine-type endopeptidase activity	g.chr3:111795794C>T	BN000125	CCDS43129.2	3q13.2	2010-04-13	2004-03-16		ENSG00000176040	ENSG00000176040		"Serine peptidases / Transmembrane"	30846	protein-coding gene	gene with protein product			"type II transmembrane serine protease 7"			12838346	Standard	NM_001042575		Approved		uc010hqb.2	Q7RTY8	OTTHUMG00000157148	ENST00000452346.2:c.2027C>T	3.37:g.111795794C>T	ENSP00000398236:p.Pro676Leu					TMPRSS7_ENST00000419127.1_Missense_Mutation_p.P550L	p.P676L			Q7RTY8	TMPS7_HUMAN			16	2030	+			676			Peptidase S1.		C9J8P7|E9PAS3|Q17RH4	Missense_Mutation	SNP	ENST00000452346.2	37	c.2027C>T		.	.	.	.	.	.	.	.	.	.	C	16.46	3.128409	0.56721	.	.	ENSG00000176040	ENST00000452346;ENST00000443106;ENST00000437906;ENST00000419127	D;D	0.88586	-2.4;-2.4	6.11	6.11	0.99139	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.130922	0.52532	D	0.000071	T	0.79621	0.4477	N	0.24115	0.695	0.46631	D	0.999137	P;P	0.49307	0.922;0.911	B;B	0.33799	0.153;0.17	T	0.79179	-0.1910	10	0.21540	T	0.41	.	17.651	0.88164	0.0:1.0:0.0:0.0	.	676;550	Q7RTY8;Q7RTY8-2	TMPS7_HUMAN;.	L	676;664;650;550	ENSP00000398236:P676L;ENSP00000411645:P550L	ENSP00000411645:P550L	P	+	2	0	TMPRSS7	113278484	0.979000	0.34478	0.972000	0.41901	0.958000	0.62258	3.474000	0.53129	2.906000	0.99361	0.655000	0.94253	CCG		0.453	TMPRSS7-003	NOVEL	NAGNAG_splice_site|not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000347592.2	XM_293599		121	215	0	0	0	1	0	121	215					T	111795794	C	T	111795794	3	4	23	1	0	0	0	0	1	0	0	0	16249	652	23	2	1699	2	TMPRSS7	3	111795794	Missense_Mutation	SNP	C	TCGA-CH-5751-01A-11D-1576-08	64434624	111795794	86226636	7	958											
ZIC1	7545	broad.mit.edu	37	chr3	147128521	147128521	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acgtgaacatggccgcgcatCacggcgccggcgccttcttc	6	7	12	16	7	2	1	1	1	1	0	3	1	2	1	3	3	1	1	3	3	1	2			TCGA-CH-5751-01A-11D-1576-08	TCGA-CH-5751-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	072e5acd-3329-42b8-9aec-d6166ac61e35	0e96e352-8a8f-4960-ad33-d64018480ff1	g.chr3:147128521C>A	ENST00000282928.4	+	1	1351	c.622C>A	c.(622-624)Cac>Aac	p.H208N		NM_003412.3	NP_003403.2	Q15915	ZIC1_HUMAN	Zic family member 1	208					adult walking behavior (GO:0007628)|brain development (GO:0007420)|cell differentiation (GO:0030154)|inner ear morphogenesis (GO:0042472)|pattern specification process (GO:0007389)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of smoothened signaling pathway (GO:0008589)|spinal cord development (GO:0021510)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.H208N(1)		central_nervous_system(4)|cervix(1)|endometrium(2)|large_intestine(8)|lung(38)|ovary(1)|prostate(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	63						GGCCGCGCATCACGGCGCCGG	0.642																																						ENST00000282928.4																			1	Substitution - Missense(1)	p.H208N(1)	prostate(1)	central_nervous_system(4)|cervix(1)|endometrium(2)|large_intestine(8)|lung(38)|ovary(1)|prostate(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	63						c.(622-624)Cac>Aac		Zic family member 1							44	46	45					3																	147128521		2203	4300	6503	SO:0001583	missense	7545				behavior|brain development|cell differentiation|inner ear morphogenesis|pattern specification process|positive regulation of protein import into nucleus|positive regulation of transcription, DNA-dependent|regulation of smoothened signaling pathway	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr3:147128521C>A	D76435	CCDS3136.1	3q24	2013-01-08	2011-05-19		ENSG00000152977	ENSG00000152977		"Zinc fingers, C2H2-type"	12872	protein-coding gene	gene with protein product		600470	"Zic family member 1 (odd-paired Drosophila homolog)", "Zic family member 1 (odd-paired homolog, Drosophila)"			8542595	Standard	NM_003412		Approved	ZIC, ZNF201	uc003ewe.3	Q15915	OTTHUMG00000159456	ENST00000282928.4:c.622C>A	3.37:g.147128521C>A	ENSP00000282928:p.His208Asn						p.H208N	NM_003412.3	NP_003403.2	Q15915	ZIC1_HUMAN			1	1351	+			208					Q2M3N1	Missense_Mutation	SNP	ENST00000282928.4	37	c.622C>A	CCDS3136.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.052349	0.75960	.	.	ENSG00000152977	ENST00000282928	T	0.40476	1.03	3.31	3.31	0.37934	.	0.000000	0.85682	D	0.000000	T	0.52256	0.1723	M	0.76727	2.345	0.80722	D	1	P	0.46656	0.882	P	0.49047	0.599	T	0.59484	-0.7446	10	0.42905	T	0.14	.	15.1323	0.72533	0.0:1.0:0.0:0.0	.	208	Q15915	ZIC1_HUMAN	N	208	ENSP00000282928:H208N	ENSP00000282928:H208N	H	+	1	0	ZIC1	148611211	1.000000	0.71417	0.941000	0.38009	0.962000	0.63368	7.351000	0.79395	1.847000	0.53656	0.549000	0.68633	CAC		0.642	ZIC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355497.1	NM_003412		15	64	1	0	6.31663e-08	1	7.28842e-08	15	64					A	147128521	C	A	147128521	3	1	23	1	0	0	0	0	1	0	0	0	17675	826	29	5	624	5	ZIC1	3	147128521	Missense_Mutation	SNP	C	TCGA-CH-5751-01A-11D-1576-08	35332727	147128521	50893909	8	959											
P2RY1	5028	broad.mit.edu	37	chr3	152554551	152554551	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccccattctctatttcttggCgggagatactttcagaagga	9	13	9	10	1	3	2	1	0	2	2	4	4	3	3	2	3	1	0	2	3	3	6			TCGA-CH-5751-01A-11D-1576-08	TCGA-CH-5751-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	072e5acd-3329-42b8-9aec-d6166ac61e35	0e96e352-8a8f-4960-ad33-d64018480ff1	g.chr3:152554551C>T	ENST00000305097.3	+	1	1816	c.980C>T	c.(979-981)gCg>gTg	p.A327V	RP11-38P22.2_ENST00000460407.1_lincRNA	NM_002563.3	NP_002554.1	P47900	P2RY1_HUMAN	purinergic receptor P2Y, G-protein coupled, 1	327					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|aging (GO:0007568)|blood coagulation (GO:0007596)|brain development (GO:0007420)|cell surface receptor signaling pathway (GO:0007166)|eating behavior (GO:0042755)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of binding (GO:0051100)|negative regulation of norepinephrine secretion (GO:0010700)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|platelet activation (GO:0030168)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of hormone secretion (GO:0046887)|positive regulation of inositol trisphosphate biosynthetic process (GO:0032962)|positive regulation of ion transport (GO:0043270)|positive regulation of penile erection (GO:0060406)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein localization to plasma membrane (GO:0072659)|regulation of receptor activity (GO:0010469)|regulation of vasodilation (GO:0042312)|relaxation of muscle (GO:0090075)|response to growth factor (GO:0070848)|response to mechanical stimulus (GO:0009612)|sensory perception of pain (GO:0019233)|signal transduction involved in regulation of gene expression (GO:0023019)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell body (GO:0044297)|cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	ADP binding (GO:0043531)|ADP-activated nucleotide receptor activity (GO:0045032)|ATP binding (GO:0005524)|ATP-activated nucleotide receptor activity (GO:0045031)|G-protein coupled purinergic nucleotide receptor activity (GO:0045028)|receptor activity (GO:0004872)|scaffold protein binding (GO:0097110)	p.A327V(1)		breast(1)|endometrium(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)	23			LUSC - Lung squamous cell carcinoma(72;0.0628)|Lung(72;0.11)			TATTTCTTGGCGGGAGATACT	0.463																																						ENST00000305097.3																			1	Substitution - Missense(1)	p.A327V(1)	prostate(1)	breast(1)|endometrium(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)	23						c.(979-981)gCg>gTg		purinergic receptor P2Y, G-protein coupled, 1							61	65	64					3																	152554551		2203	4300	6503	SO:0001583	missense	5028				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|platelet activation	integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	g.chr3:152554551C>T	U42029	CCDS3169.1	3q25.2	2012-08-08			ENSG00000169860	ENSG00000169860		"Purinergic receptors", "GPCR / Class A : Purinergic receptors, P2Y"	8539	protein-coding gene	gene with protein product		601167				8579591	Standard	NM_002563		Approved	P2Y1	uc003ezq.3	P47900	OTTHUMG00000159694	ENST00000305097.3:c.980C>T	3.37:g.152554551C>T	ENSP00000304767:p.Ala327Val						p.A327V	NM_002563.3	NP_002554.1	P47900	P2RY1_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0628)|Lung(72;0.11)		1	1816	+			327						Missense_Mutation	SNP	ENST00000305097.3	37	c.980C>T	CCDS3169.1	.	.	.	.	.	.	.	.	.	.	C	19.35	3.810925	0.70797	.	.	ENSG00000169860	ENST00000305097	T	0.24538	1.85	5.2	5.2	0.72013	.	0.000000	0.85682	D	0.000000	T	0.19525	0.0469	N	0.08118	0	0.80722	D	1	D	0.65815	0.995	P	0.52189	0.692	T	0.02444	-1.1158	10	0.02654	T	1	.	17.7371	0.88396	0.0:1.0:0.0:0.0	.	327	P47900	P2RY1_HUMAN	V	327	ENSP00000304767:A327V	ENSP00000304767:A327V	A	+	2	0	P2RY1	154037241	1.000000	0.71417	0.996000	0.52242	0.996000	0.88848	5.988000	0.70579	2.419000	0.82065	0.563000	0.77884	GCG		0.463	P2RY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356943.1	NM_002563		5	129	0	0	0	1	0	5	129					T	152554551	C	T	152554551	3	4	23	1	0	0	0	0	1	0	0	0	11346	768	27	1	982	1	P2RY1	3	152554551	Missense_Mutation	SNP	C	TCGA-CH-5751-01A-11D-1576-08	5426030	152554551	45467879	9	960											
SOD3	6649	broad.mit.edu	37	chr4	24801303	24801303	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	aggaggtcatgcagcggcggGacgacgacggcgcgctccac	8	3	17	13	7	1	0	1	0	0	0	2	4	2	2	1	5	2	2	1	5	0	0			TCGA-CH-5751-01A-11D-1576-08	TCGA-CH-5751-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	072e5acd-3329-42b8-9aec-d6166ac61e35	0e96e352-8a8f-4960-ad33-d64018480ff1	g.chr4:24801303G>A	ENST00000382120.3	+	2	365	c.160G>A	c.(160-162)Gac>Aac	p.D54N		NM_003102.2	NP_003093.2	P08294	SODE_HUMAN	superoxide dismutase 3, extracellular	54					removal of superoxide radicals (GO:0019430)|response to copper ion (GO:0046688)|response to hypoxia (GO:0001666)	cytoplasm (GO:0005737)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	copper ion binding (GO:0005507)|heparin binding (GO:0008201)|superoxide dismutase activity (GO:0004784)|zinc ion binding (GO:0008270)	p.D54N(1)		prostate(1)|urinary_tract(1)	2		Breast(46;0.0503)				GCAGCGGCGGGACGACGACGG	0.716																																						ENST00000382120.3																			1	Substitution - Missense(1)	p.D54N(1)	prostate(1)	prostate(1)|urinary_tract(1)	2						c.(160-162)Gac>Aac		superoxide dismutase 3, extracellular							13	10	11					4																	24801303		2174	4259	6433	SO:0001583	missense	6649				removal of superoxide radicals	extracellular space|nucleus|soluble fraction	copper ion binding|heparin binding|protein binding|superoxide dismutase activity|zinc ion binding	g.chr4:24801303G>A		CCDS3430.1	4p15.2	2012-09-20			ENSG00000109610	ENSG00000109610	1.15.1.1		11181	protein-coding gene	gene with protein product		185490					Standard	NM_003102		Approved	EC-SOD	uc003gqz.3	P08294	OTTHUMG00000128565	ENST00000382120.3:c.160G>A	4.37:g.24801303G>A	ENSP00000371554:p.Asp54Asn						p.D54N	NM_003102.2	NP_003093.2	P08294	SODE_HUMAN			2	365	+		Breast(46;0.0503)	54					Q5U781|Q6FHA2	Missense_Mutation	SNP	ENST00000382120.3	37	c.160G>A	CCDS3430.1	.	.	.	.	.	.	.	.	.	.	G	14.23	2.472945	0.43942	.	.	ENSG00000109610	ENST00000382120	D	0.98633	-5.04	4.91	1.99	0.26369	Superoxide dismutase, copper/zinc binding domain (1);	2.117440	0.02720	U	0.113847	D	0.95645	0.8584	N	0.19112	0.55	0.09310	N	1	B	0.10296	0.003	B	0.06405	0.002	D	0.90388	0.4393	10	0.59425	D	0.04	-13.0529	4.2855	0.10853	0.1191:0.2813:0.4782:0.1214	.	54	P08294	SODE_HUMAN	N	54	ENSP00000371554:D54N	ENSP00000371554:D54N	D	+	1	0	SOD3	24410401	.	.	0.001000	0.08648	0.100000	0.18952	.	.	0.992000	0.38840	0.561000	0.74099	GAC		0.716	SOD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250416.1			14	8	0	0	0	1	0	14	8					A	24801303	G	A	24801303	3	1	23	1	0	0	0	0	1	0	0	0	14922	1174	41	3	162	3	SOD3	4	24801303	Missense_Mutation	SNP	G	TCGA-CH-5751-01A-11D-1576-08		24801303	166352973	10	961											
ANKRD56	345079	broad.mit.edu	37	chr4	77818329	77818329	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gggcaggcagagcccgtgccGgcttctcctccgcggtggcc	3	6	16	16	4	1	1	0	0	1	1	3	1	2	1	5	5	2	3	5	5	0	1			TCGA-CH-5751-01A-11D-1576-08	TCGA-CH-5751-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	072e5acd-3329-42b8-9aec-d6166ac61e35	0e96e352-8a8f-4960-ad33-d64018480ff1	g.chr4:77818329G>A	ENST00000334306.2	-	1	673	c.674C>T	c.(673-675)cCg>cTg	p.P225L		NM_001029870.1	NP_001025041.1	A6NEL2	SWAHB_HUMAN	sosondowah ankyrin repeat domain family member B	225	Ala-rich.							p.P225L(1)									AGCCCGTGCCGGCTTCTCCTC	0.706																																						ENST00000334306.2																			1	Substitution - Missense(1)	p.P225L(1)	prostate(1)								c.(673-675)cCg>cTg		sosondowah ankyrin repeat domain family member B							5	6	6					4																	77818329		2067	4094	6161	SO:0001583	missense	345079							g.chr4:77818329G>A		CCDS34017.1	4q21.1	2013-01-10	2012-01-12	2012-01-12	ENSG00000186212	ENSG00000186212		"Ankyrin repeat domain containing"	32958	protein-coding gene	gene with protein product			"ankyrin repeat domain 56"	ANKRD56		22234889	Standard	NM_001029870		Approved		uc003hki.3	A6NEL2	OTTHUMG00000160876	ENST00000334306.2:c.674C>T	4.37:g.77818329G>A	ENSP00000334879:p.Pro225Leu						p.P225L	NM_001029870.1	NP_001025041.1	A6NEL2	ANR56_HUMAN			1	673	-			225			Ala-rich.		B2RP29	Missense_Mutation	SNP	ENST00000334306.2	37	c.674C>T	CCDS34017.1	.	.	.	.	.	.	.	.	.	.	G	13.73	2.325432	0.41197	.	.	ENSG00000186212	ENST00000334306	T	0.06768	3.26	3.84	-2.66	0.06077	.	1.675100	0.04281	N	0.343802	T	0.05273	0.0140	N	0.19112	0.55	0.09310	N	1	B	0.18610	0.029	B	0.08055	0.003	T	0.40924	-0.9537	10	0.38643	T	0.18	-1.8419	3.9791	0.09487	0.4256:0.0:0.3132:0.2612	.	225	A6NEL2	ANR56_HUMAN	L	225	ENSP00000334879:P225L	ENSP00000334879:P225L	P	-	2	0	ANKRD56	78037353	0.000000	0.05858	0.032000	0.17829	0.137000	0.21094	-0.250000	0.08830	-0.250000	0.09555	0.561000	0.74099	CCG		0.706	SOWAHB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362762.1	NM_001029870		4	9	0	0	0	1	0	4	9					A	77818329	G	A	77818329	3	1	23	1	0	0	0	0	1	0	0	0	682	1116	39	2	1711	2	ANKRD56	4	77818329	Missense_Mutation	SNP	G	TCGA-CH-5751-01A-11D-1576-08	53017026	77818329	113335947	11	962											
DHFR	1719	broad.mit.edu	37	chr5	79945228	79945232	+	Frame_Shift_Del	DEL	TAAAT	TAAAT	-																															ttgagttctctgctgagaacTaaattaattctaccctttaa																										TCGA-CH-5751-01A-11D-1576-08	TCGA-CH-5751-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	072e5acd-3329-42b8-9aec-d6166ac61e35	0e96e352-8a8f-4960-ad33-d64018480ff1	g.chr5:79945228_79945232delTAAAT	ENST00000439211.2	-	3	711_715	c.218_222delATTTA	c.(217-222)aatttafs	p.NL73fs	DHFR_ENST00000505337.1_Frame_Shift_Del_p.NL73fs|DHFR_ENST00000504396.1_Frame_Shift_Del_p.NL21fs|DHFR_ENST00000511032.1_Frame_Shift_Del_p.NL73fs|DHFR_ENST00000513048.1_5'UTR	NM_000791.3	NP_000782.1	P00374	DYR_HUMAN	dihydrofolate reductase	73	DHFR. {ECO:0000255|PROSITE- ProRule:PRU00660}.				folic acid metabolic process (GO:0046655)|G1/S transition of mitotic cell cycle (GO:0000082)|glycine biosynthetic process (GO:0006545)|mitotic cell cycle (GO:0000278)|nitric oxide metabolic process (GO:0046209)|nucleotide biosynthetic process (GO:0009165)|one-carbon metabolic process (GO:0006730)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|response to methotrexate (GO:0031427)|small molecule metabolic process (GO:0044281)|tetrahydrofolate biosynthetic process (GO:0046654)|tetrahydrofolate metabolic process (GO:0046653)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	dihydrofolate reductase activity (GO:0004146)|drug binding (GO:0008144)|mRNA binding (GO:0003729)|NADP binding (GO:0050661)			kidney(1)|large_intestine(1)	2		Lung NSC(167;0.00475)|all_lung(232;0.00502)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;2.69e-46)|Epithelial(54;7.49e-41)|all cancers(79;1.54e-35)	Methotrexate(DB00563)|Pemetrexed(DB00642)|Pralatrexate(DB06813)|Proguanil(DB01131)|Pyrimethamine(DB00205)|Trimethoprim(DB00440)|Trimetrexate(DB01157)	TGCTGAGAACTAAATTAATTCTACC	0.332																																						ENST00000439211.2																			0				kidney(1)|large_intestine(1)	2						c.(217-222)afs		dihydrofolate reductase	Dapsone(DB00250)|Dimethyl sulfoxide(DB01093)|Lamotrigine(DB00555)|Methotrexate(DB00563)|NADH(DB00157)|Pemetrexed(DB00642)|Proguanil(DB01131)|Pyrimethamine(DB00205)|Trimethoprim(DB00440)|Trimetrexate(DB01157)																																			SO:0001589	frameshift_variant	1719				folic acid metabolic process|glycine biosynthetic process|nucleotide biosynthetic process|one-carbon metabolic process|regulation of transcription involved in G1/S phase of mitotic cell cycle|response to methotrexate|tetrahydrofolate metabolic process	cytosol	dihydrofolate reductase activity|drug binding|folate reductase activity|NADP binding	g.chr5:79945228_79945232delTAAAT		CCDS47240.1	5q11.2-q13.2	2012-10-02			ENSG00000228716	ENSG00000228716	1.5.1.3		2861	protein-coding gene	gene with protein product		126060					Standard	XM_005248455		Approved		uc003kgy.1	P00374	OTTHUMG00000162529	ENST00000439211.2:c.218_222delATTTA	5.37:g.79945228_79945232delTAAAT	ENSP00000396308:p.Asn73fs					DHFR_ENST00000511032.1_Frame_Shift_Del_p.NL73fs|DHFR_ENST00000504396.1_Frame_Shift_Del_p.NL21fs|DHFR_ENST00000513048.1_5'UTR|DHFR_ENST00000505337.1_Frame_Shift_Del_p.NL73fs	p.NL73fs	NM_000791.3	NP_000782.1	P00374	DYR_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;2.69e-46)|Epithelial(54;7.49e-41)|all cancers(79;1.54e-35)	3	711_715	-		Lung NSC(167;0.00475)|all_lung(232;0.00502)|Ovarian(174;0.0261)	73			DHFR.		B4DDD2|Q14130|Q6IRW8	Frame_Shift_Del	DEL	ENST00000439211.2	37	c.218_222delATTTA	CCDS47240.1																																																																																				0.332	DHFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369450.1	NM_000791		23	74						23	74	---	---	---	---	-	79945232	TAAAT	-	79945228	7	5	23	1	0	1	0	1	0	0	0	0	4481	1519	53	0	357	0	DHFR	5	79945228	Frame_Shift_Del	DEL	TAAAT	TCGA-CH-5751-01A-11D-1576-08		79945228	100970032	12	963											
SLCO6A1	133482	broad.mit.edu	37	chr5	101834316	101834316	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aactgtcatccacttctcccGgcttcttggaaactgaggac	9	11	8	13	1	3	1	1	1	2	0	5	3	4	3	2	3	2	1	2	3	2	3			TCGA-CH-5751-01A-11D-1576-08	TCGA-CH-5751-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	072e5acd-3329-42b8-9aec-d6166ac61e35	0e96e352-8a8f-4960-ad33-d64018480ff1	g.chr5:101834316G>A	ENST00000506729.1	-	1	404	c.233C>T	c.(232-234)cCg>cTg	p.P78L	SLCO6A1_ENST00000514551.1_5'UTR|SLCO6A1_ENST00000389019.3_Missense_Mutation_p.P78L|RP11-58B2.1_ENST00000502494.1_RNA|SLCO6A1_ENST00000513675.1_Missense_Mutation_p.P78L|SLCO6A1_ENST00000379807.3_Missense_Mutation_p.P78L|SLCO6A1_ENST00000379810.1_Missense_Mutation_p.P78L			Q86UG4	SO6A1_HUMAN	solute carrier organic anion transporter family, member 6A1	78				KPG -> NRE (in Ref. 1; AAP33048). {ECO:0000305}.		integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)	p.P78L(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(17)|lung(22)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	60		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)		CACTTCTCCCGGCTTCTTGGA	0.488																																						ENST00000506729.1																			1	Substitution - Missense(1)	p.P78L(1)	prostate(1)	breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(17)|lung(22)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						c.(232-234)cCg>cTg		solute carrier organic anion transporter family, member 6A1							129	135	133					5																	101834316		2203	4300	6503	SO:0001583	missense	133482					integral to membrane|plasma membrane	transporter activity	g.chr5:101834316G>A	AF505657	CCDS34206.1, CCDS75282.1	5q21.2	2013-05-22			ENSG00000205359	ENSG00000205359		"Solute carriers"	23613	protein-coding gene	gene with protein product	"cancer/testis antigen 48"	613365					Standard	XM_005271874		Approved	OATP6A1, OATPY, MGC26949, CT48	uc003knp.3	Q86UG4	OTTHUMG00000162759	ENST00000506729.1:c.233C>T	5.37:g.101834316G>A	ENSP00000421339:p.Pro78Leu					SLCO6A1_ENST00000513675.1_Missense_Mutation_p.P78L|SLCO6A1_ENST00000379810.1_Missense_Mutation_p.P78L|SLCO6A1_ENST00000389019.3_Missense_Mutation_p.P78L|SLCO6A1_ENST00000514551.1_5'UTR|SLCO6A1_ENST00000379807.3_Missense_Mutation_p.P78L	p.P78L			Q86UG4	SO6A1_HUMAN		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)	1	404	-		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)	78	KPG -> NRE (in Ref. 1; AAP33048).				A6NHC1|Q6ZMY5|Q86UV2|Q8IYU5	Missense_Mutation	SNP	ENST00000506729.1	37	c.233C>T	CCDS34206.1	.	.	.	.	.	.	.	.	.	.	G	8.602	0.887099	0.17540	.	.	ENSG00000205359	ENST00000506729;ENST00000379807;ENST00000389019;ENST00000513675;ENST00000379810	T;T;T;T;T	0.44482	1.0;1.0;1.0;0.92;0.92	3.35	-6.71	0.01760	.	13.523300	0.00166	N	0.000001	T	0.18425	0.0442	N	0.14661	0.345	0.09310	N	1	B;B;B	0.10296	0.002;0.003;0.001	B;B;B	0.04013	0.001;0.001;0.0	T	0.28650	-1.0037	10	0.07175	T	0.84	.	2.3864	0.04366	0.3955:0.3457:0.1427:0.1162	.	78;78;78	Q86UG4-2;C9J020;Q86UG4	.;.;SO6A1_HUMAN	L	78	ENSP00000421339:P78L;ENSP00000369135:P78L;ENSP00000373671:P78L;ENSP00000421990:P78L;ENSP00000369138:P78L	ENSP00000369135:P78L	P	-	2	0	SLCO6A1	101862215	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-1.183000	0.03079	-2.280000	0.00675	0.430000	0.28490	CCG		0.488	SLCO6A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370335.1	NM_173488		55	242	0	0	0	1	0	55	242					A	101834316	G	A	101834316	3	1	23	1	0	0	0	0	1	0	0	0	14732	1116	39	2	1978	2	SLCO6A1	5	101834316	Missense_Mutation	SNP	G	TCGA-CH-5751-01A-11D-1576-08	21889088	101834316	79080944	13	964											
PCDHGC4	56098	broad.mit.edu	37	chr5	140865886	140865886	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gatccagactcagggtcaaaCggagatgtgagcctccgcat	11	7	12	11	2	2	3	2	1	0	2	4	5	4	3	3	2	2	1	3	2	1	0	rs148184642		TCGA-CH-5751-01A-11D-1576-08	TCGA-CH-5751-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	072e5acd-3329-42b8-9aec-d6166ac61e35	0e96e352-8a8f-4960-ad33-d64018480ff1	g.chr5:140865886C>T	ENST00000306593.1	+	1	1146	c.1146C>T	c.(1144-1146)aaC>aaT	p.N382N	PCDHGA6_ENST00000517434.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGC3_ENST00000308177.3_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGC5_ENST00000252087.1_5'Flank|PCDHGA11_ENST00000518882.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB3_ENST00000576222.1_Intron	NM_018928.2|NM_032406.1	NP_061751.1|NP_115782.1	Q9Y5F7	PCDGL_HUMAN	protocadherin gamma subfamily C, 4	382	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.N382N(1)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(13)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	42			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAGGGTCAAACGGAGATGTGA	0.562													C|||	1	0.000199681	8e-04	0	5008	,	,		19270	0		0	False		,,,				2504	0					ENST00000306593.1																			1	Substitution - coding silent(1)	p.N382N(1)	prostate(1)	NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(13)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	42						c.(1144-1146)aaC>aaT				C	,,,,,,,,,,,,,,,,,,,,,,,	10,4396	17.9+/-39.9	0,10,2193	118	98	104		,,,,,,,,,,,,,,,,,,,1146,,,,1146	-6.2	0.4	5	dbSNP_134	104	0,8600		0,0,4300	no	intron,intron,intron,intron,intron,intron,intron,intron,intron,intron,intron,intron,intron,intron,intron,intron,intron,intron,intron,coding-synonymous,intron,intron,intron,coding-synonymous	PCDHGC3,PCDHGB4,PCDHGA8,PCDHGA12,PCDHGC4,PCDHGB7,PCDHGB6,PCDHGB5,PCDHGB3,PCDHGB2,PCDHGB1,PCDHGA11,PCDHGA10,PCDHGA9,PCDHGA7,PCDHGA6,PCDHGA5,PCDHGA4,PCDHGA3,PCDHGA2,PCDHGA1	NM_002588.2,NM_003735.2,NM_003736.2,NM_018912.2,NM_018913.2,NM_018914.2,NM_018915.2,NM_018916.3,NM_018917.2,NM_018918.2,NM_018919.2,NM_018920.2,NM_018921.2,NM_018922.2,NM_018923.2,NM_018924.2,NM_018925.2,NM_018926.2,NM_018927.3,NM_018928.2,NM_032088.1,NM_032092.1,NM_032403.1,NM_032406.1	,,,,,,,,,,,,,,,,,,,,,,,	0,10,6493	TT,TC,CC		0.0,0.227,0.0769	,,,,,,,,,,,,,,,,,,,,,,,	,,,,,,,,,,,,,,,,,,,382/939,,,,382/872	140865886	10,12996	2203	4300	6503	SO:0001819	synonymous_variant	0							g.chr5:140865886C>T	AF152525	CCDS4262.1, CCDS75349.1	5q31	2010-01-26			ENSG00000242419	ENSG00000242419		"Cadherins / Protocadherins : Clustered"	8717	other	protocadherin		606305				10380929	Standard	NM_018928		Approved	PCDH-GAMMA-C4		Q9Y5F7	OTTHUMG00000129625	ENST00000306593.1:c.1146C>T	5.37:g.140865886C>T						PCDHGB7_ENST00000398594.2_Intron|PCDHGC3_ENST00000308177.3_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB3_ENST00000576222.1_Intron	p.N382N	NM_018928.2|NM_032406.1	NP_061751.1|NP_115782.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1146	+								Q495T2|Q9Y5C3	Silent	SNP	ENST00000306593.1	37	c.1146C>T	CCDS4262.1																																																																																				0.562	PCDHGC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251820.1	NM_018928		6	98	0	0	0	1	0	6	98					T	140865886	C	T	140865886	2	4	23	1	0	0	0	0	0	0	0	1	11570	535	19	1		1	PCDHGC4	5	140865886	Silent	SNP	C	TCGA-CH-5751-01A-11D-1576-08	39031570	140865886	40049374	14	965											
DCDC2	51473	broad.mit.edu	37	chr6	24357720	24357720	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcttcctggcctccagccaCgtaattgcccccgctctgga	5	9	10	17	2	1	0	0	0	1	0	3	1	3	1	6	3	2	3	6	3	1	3			TCGA-CH-5751-01A-11D-1576-08	TCGA-CH-5751-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	072e5acd-3329-42b8-9aec-d6166ac61e35	0e96e352-8a8f-4960-ad33-d64018480ff1	g.chr6:24357720C>T	ENST00000378454.3	-	1	560	c.259G>A	c.(259-261)Gtg>Atg	p.V87M	KAAG1_ENST00000274766.1_5'UTR	NM_001195610.1|NM_016356.3	NP_001182539.1|NP_057440.2	Q9UHG0	DCDC2_HUMAN	doublecortin domain containing 2	87	Doublecortin 1. {ECO:0000255|PROSITE- ProRule:PRU00072}.				cellular defense response (GO:0006968)|dendrite morphogenesis (GO:0048813)|intracellular signal transduction (GO:0035556)|neuron migration (GO:0001764)|visual learning (GO:0008542)			p.V87M(1)		breast(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32		Ovarian(999;0.101)				CCTCCAGCCACGTAATTGCCC	0.587																																						ENST00000378454.3																			1	Substitution - Missense(1)	p.V87M(1)	prostate(1)	breast(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32						c.(259-261)Gtg>Atg		doublecortin domain containing 2							47	44	45					6																	24357720		2203	4300	6503	SO:0001583	missense	51473				cellular defense response|intracellular signal transduction|neuron migration			g.chr6:24357720C>T	AB032980	CCDS4550.1	6p22.1	2008-02-05			ENSG00000146038	ENSG00000146038			18141	protein-coding gene	gene with protein product		605755				10601354, 10574461	Standard	NM_001195610		Approved	RU2, KIAA1154, DCDC2A	uc003ndx.3	Q9UHG0	OTTHUMG00000016275	ENST00000378454.3:c.259G>A	6.37:g.24357720C>T	ENSP00000367715:p.Val87Met					KAAG1_ENST00000274766.1_5'UTR	p.V87M	NM_001195610.1|NM_016356.3	NP_001182539.1|NP_057440.2	Q9UHG0	DCDC2_HUMAN			1	560	-		Ovarian(999;0.101)	87			Doublecortin 1.		Q5VTR8|Q5VTR9|Q86W35|Q9UFD1|Q9UHG1|Q9ULR6	Missense_Mutation	SNP	ENST00000378454.3	37	c.259G>A	CCDS4550.1	.	.	.	.	.	.	.	.	.	.	C	31	5.097961	0.94197	.	.	ENSG00000146038	ENST00000378454;ENST00000451359	D	0.97066	-4.23	5.57	5.57	0.84162	Doublecortin domain (5);	0.062950	0.64402	D	0.000006	D	0.98896	0.9626	M	0.92555	3.32	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99505	1.0954	10	0.72032	D	0.01	-8.4709	19.5657	0.95391	0.0:1.0:0.0:0.0	.	87	Q9UHG0	DCDC2_HUMAN	M	87	ENSP00000367715:V87M	ENSP00000367715:V87M	V	-	1	0	DCDC2	24465699	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.704000	0.84595	2.630000	0.89119	0.591000	0.81541	GTG		0.587	DCDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043604.1	NM_016356		40	105	0	0	0	1	0	40	105					T	24357720	C	T	24357720	3	4	23	1	0	0	0	0	1	0	0	0	4285	536	19	1	1211	1	DCDC2	6	24357720	Missense_Mutation	SNP	C	TCGA-CH-5751-01A-11D-1576-08		24357720	146757347	15	966											
LRRC16A	55604	broad.mit.edu	37	chr6	25472740	25472740	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	accttgctggcaacccactgGaggatagaggtactgcagag	11	7	13	10	0	0	2	0	0	0	2	0	4	0	4	2	4	4	4	2	4	3	3			TCGA-CH-5751-01A-11D-1576-08	TCGA-CH-5751-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	072e5acd-3329-42b8-9aec-d6166ac61e35	0e96e352-8a8f-4960-ad33-d64018480ff1	g.chr6:25472740G>T	ENST00000329474.6	+	11	1233	c.865G>T	c.(865-867)Gag>Tag	p.E289*	LRRC16A_ENST00000377969.3_Nonsense_Mutation_p.E128*	NM_001173977.1|NM_017640.5	NP_001167448.1|NP_060110.4	Q5VZK9	LR16A_HUMAN	leucine rich repeat containing 16A	289					actin filament organization (GO:0007015)|barbed-end actin filament uncapping (GO:0051638)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|lamellipodium assembly (GO:0030032)|negative regulation of barbed-end actin filament capping (GO:2000813)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell migration (GO:0030335)|positive regulation of lamellipodium organization (GO:1902745)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|ruffle organization (GO:0031529)|urate metabolic process (GO:0046415)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|lamellipodium (GO:0030027)|nucleus (GO:0005634)	protein complex binding (GO:0032403)	p.E289*(1)		breast(4)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	50						CAACCCACTGGAGGATAGAGG	0.423																																						ENST00000329474.6																			1	Substitution - Nonsense(1)	p.E289*(1)	prostate(1)	breast(4)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	50						c.(865-867)Gag>Tag		leucine rich repeat containing 16A							45	41	42					6																	25472740		1872	4098	5970	SO:0001587	stop_gained	55604				actin filament organization|blood coagulation|cell migration|lamellipodium assembly|ruffle organization|urate metabolic process	cytosol|lamellipodium|nucleus		g.chr6:25472740G>T	AK000055	CCDS54973.1	6p22.1	2010-09-10	2008-02-12	2008-02-12	ENSG00000079691	ENSG00000079691			21581	protein-coding gene	gene with protein product	"capping protein, Arp2/3, and Myosin-I Linker homolog 1 (Dictyostelium)"	609593	"leucine rich repeat containing 16"	LRRC16		19846667	Standard	NM_017640		Approved	dJ501N12.1, FLJ20048, CARMIL, CARMIL1	uc011djw.2	Q5VZK9	OTTHUMG00000014393	ENST00000329474.6:c.865G>T	6.37:g.25472740G>T	ENSP00000331983:p.Glu289*					LRRC16A_ENST00000377969.3_Nonsense_Mutation_p.E128*	p.E289*	NM_001173977.1|NM_017640.5	NP_001167448.1|NP_060110.4	Q5VZK9	LR16A_HUMAN			11	1233	+			289					B8X1J0|Q6ZUH5|Q6ZW07|Q9NXU7	Nonsense_Mutation	SNP	ENST00000329474.6	37	c.865G>T	CCDS54973.1	.	.	.	.	.	.	.	.	.	.	G	42	9.321060	0.99137	.	.	ENSG00000079691	ENST00000329474;ENST00000399313;ENST00000377969	.	.	.	5.75	5.75	0.90469	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	19.9598	0.97242	0.0:0.0:1.0:0.0	.	.	.	.	X	289;289;128	.	ENSP00000331983:E289X	E	+	1	0	LRRC16A	25580719	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	8.668000	0.91158	2.716000	0.92895	0.655000	0.94253	GAG		0.423	LRRC16A-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000040045.2	NM_017640		2	1	1	0	1	1	1	2	1					T	25472740	G	T	25472740	4	4	23	1	0	0	0	0	0	1	0	0	8971	1175	41	5	907	5	LRRC16A	6	25472740	Nonsense_Mutation	SNP	G	TCGA-CH-5751-01A-11D-1576-08	1115020	25472740	145642327	16	967											
KIFC1	3833	broad.mit.edu	37	chr6	33377450	33377450	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agtgtgttattggtactgctCaggccaacaggaagtgaaga	12	10	13	6	0	1	2	1	1	0	1	1	3	1	3	1	3	3	3	1	3	5	3			TCGA-CH-5751-01A-11D-1576-08	TCGA-CH-5751-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	072e5acd-3329-42b8-9aec-d6166ac61e35	0e96e352-8a8f-4960-ad33-d64018480ff1	g.chr6:33377450C>T	ENST00000428849.2	+	11	2455	c.2005C>T	c.(2005-2007)Cag>Tag	p.Q669*	PHF1_ENST00000374516.3_5'Flank|PHF1_ENST00000374512.3_5'Flank	NM_002263.3	NP_002254.2	Q9BW19	KIFC1_HUMAN	kinesin family member C1	669					ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic sister chromatid segregation (GO:0000070)|spindle assembly (GO:0051225)	endosome (GO:0005768)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|minus-end-directed microtubule motor activity (GO:0008569)	p.Q669*(2)		endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(3)|skin(1)	13						TGGTACTGCTCAGGCCAACAG	0.483																																						ENST00000428849.2																			2	Substitution - Nonsense(2)	p.Q669*(2)	prostate(1)|endometrium(1)	endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(3)|skin(1)	13						c.(2005-2007)Cag>Tag		kinesin family member C1							229	183	198					6																	33377450		2203	4300	6503	SO:0001587	stop_gained	3833				blood coagulation|cell division|microtubule-based movement|mitotic sister chromatid segregation	early endosome|microtubule|microtubule associated complex|microtubule organizing center|nucleus|spindle	ATP binding|microtubule motor activity	g.chr6:33377450C>T	D14678	CCDS34430.1	6p21.32	2014-05-15	2003-01-09	2003-01-10	ENSG00000237649	ENSG00000237649		"Kinesins"	6389	protein-coding gene	gene with protein product		603763	"kinesin-like 2"	KNSL2		8276466	Standard	NM_002263		Approved	HSET	uc003oef.4	Q9BW19	OTTHUMG00000031209	ENST00000428849.2:c.2005C>T	6.37:g.33377450C>T	ENSP00000393963:p.Gln669*						p.Q669*	NM_002263.3	NP_002254.2	Q9BW19	KIFC1_HUMAN			11	2455	+			669					O60887|Q14834|Q4KMP0|Q5SU09|Q6GMS7|Q6P4A5|Q9UQP7	Nonsense_Mutation	SNP	ENST00000428849.2	37	c.2005C>T	CCDS34430.1	.	.	.	.	.	.	.	.	.	.	C	39	7.766863	0.98477	.	.	ENSG00000237649	ENST00000428849	.	.	.	4.58	4.58	0.56647	.	0.286088	0.31381	N	0.007748	.	.	.	.	.	.	0.58432	D	0.999999	.	.	.	.	.	.	.	.	.	.	0.12103	T	0.63	-30.4818	12.7497	0.57302	0.0:1.0:0.0:0.0	.	.	.	.	X	669	.	ENSP00000393963:Q669X	Q	+	1	0	KIFC1	33485428	0.701000	0.27806	1.000000	0.80357	0.363000	0.29612	2.149000	0.42244	2.380000	0.81148	0.563000	0.77884	CAG		0.483	KIFC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076417.1	NM_002263		39	259	0	0	0	1	0	39	259					T	33377450	C	T	33377450	4	4	23	1	0	0	0	0	0	1	0	0	8312	827	29	3	2047	3	KIFC1	6	33377450	Nonsense_Mutation	SNP	C	TCGA-CH-5751-01A-11D-1576-08	7904710	33377450	137737617	17	968											
FBXL4	26235	broad.mit.edu	37	chr6	99323344	99323344	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacatgccaattcatcaatgTctgtgtcacacacagatcta	13	12	5	11	0	5	1	3	0	2	1	5	1	5	1	1	0	2	0	1	0	4	3			TCGA-CH-5751-01A-11D-1576-08	TCGA-CH-5751-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	072e5acd-3329-42b8-9aec-d6166ac61e35	0e96e352-8a8f-4960-ad33-d64018480ff1	g.chr6:99323344T>G	ENST00000369244.2	-	9	2077	c.1649A>C	c.(1648-1650)gAc>gCc	p.D550A	FBXL4_ENST00000229971.1_Missense_Mutation_p.D550A	NM_001278716.1	NP_001265645.1	Q9UKA2	FBXL4_HUMAN	F-box and leucine-rich repeat protein 4	550					ubiquitin-dependent protein catabolic process (GO:0006511)	mitochondrial intermembrane space (GO:0005758)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)		p.D550A(1)		central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(4)|prostate(3)|skin(2)	18		all_cancers(76;1.56e-06)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00893)|Colorectal(196;0.069)|Lung NSC(302;0.197)		BRCA - Breast invasive adenocarcinoma(108;0.0413)		TTCATCAATGTCTGTGTCACA	0.413																																						ENST00000369244.2																			1	Substitution - Missense(1)	p.D550A(1)	prostate(1)	central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(4)|prostate(3)|skin(2)	18						c.(1648-1650)gAc>gCc		F-box and leucine-rich repeat protein 4							84	82	83					6																	99323344		2203	4300	6503	SO:0001583	missense	26235				ubiquitin-dependent protein catabolic process	cytoplasm|nucleus|ubiquitin ligase complex		g.chr6:99323344T>G	AF176699	CCDS5041.1	6q16.1-q16.3	2011-06-09			ENSG00000112234	ENSG00000112234		"F-boxes / Leucine-rich repeats"	13601	protein-coding gene	gene with protein product		605654				10531035	Standard	NM_012160		Approved	FBL4, FBL5	uc003ppf.1	Q9UKA2	OTTHUMG00000015259	ENST00000369244.2:c.1649A>C	6.37:g.99323344T>G	ENSP00000358247:p.Asp550Ala					FBXL4_ENST00000229971.1_Missense_Mutation_p.D550A	p.D550A			Q9UKA2	FBXL4_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0413)	9	2077	-		all_cancers(76;1.56e-06)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00893)|Colorectal(196;0.069)|Lung NSC(302;0.197)	550					B2R7Q5|E1P530|O95919|Q5BJH0|Q9UJU0	Missense_Mutation	SNP	ENST00000369244.2	37	c.1649A>C	CCDS5041.1	.	.	.	.	.	.	.	.	.	.	T	18.24	3.579981	0.65992	.	.	ENSG00000112234	ENST00000369244;ENST00000229971	T;T	0.02197	4.4;4.4	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	T	0.03827	0.0108	L	0.39898	1.24	0.80722	D	1	D;B	0.89917	1.0;0.13	D;B	0.83275	0.996;0.033	T	0.64786	-0.6325	10	0.18710	T	0.47	.	16.2736	0.82632	0.0:0.0:0.0:1.0	.	550;550	B2R7Q5;Q9UKA2	.;FBXL4_HUMAN	A	550	ENSP00000358247:D550A;ENSP00000229971:D550A	ENSP00000229971:D550A	D	-	2	0	FBXL4	99430065	1.000000	0.71417	1.000000	0.80357	0.887000	0.51463	7.698000	0.84413	2.247000	0.74100	0.477000	0.44152	GAC		0.413	FBXL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041587.2			46	121	0	0	0	1	0	46	121					G	99323344	T	G	99323344	3	3	23	1	0	0	0	0	1	0	0	0	5721	1667	58	5	224	5	FBXL4	6	99323344	Missense_Mutation	SNP	T	TCGA-CH-5751-01A-11D-1576-08	65945894	99323344	71791723	18	969											
NEUROD6	63974	broad.mit.edu	37	chr7	31377922	31377922	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cattgtgagagattggctgcGcagatgtaagtcgtaaggga	11	10	15	5	2	0	3	0	1	0	2	1	5	0	4	0	2	1	4	0	2	2	4			TCGA-CH-5751-01A-11D-1576-08	TCGA-CH-5751-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	072e5acd-3329-42b8-9aec-d6166ac61e35	0e96e352-8a8f-4960-ad33-d64018480ff1	g.chr7:31377922G>A	ENST00000297142.3	-	2	1283	c.961C>T	c.(961-963)Cgc>Tgc	p.R321C		NM_022728.2	NP_073565.2	Q96NK8	NDF6_HUMAN	neuronal differentiation 6	321					cell differentiation (GO:0030154)|dentate gyrus development (GO:0021542)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)	p.R321C(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	32						GATTGGCTGCGCAGATGTAAG	0.478																																						ENST00000297142.3																			1	Substitution - Missense(1)	p.R321C(1)	prostate(1)	breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	32						c.(961-963)Cgc>Tgc		neuronal differentiation 6							78	76	77					7																	31377922		2203	4300	6503	SO:0001583	missense	63974				cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr7:31377922G>A	AF248954	CCDS5434.1	7p15.1	2013-05-21	2012-02-22		ENSG00000164600	ENSG00000164600		"Basic helix-loop-helix proteins"	13804	protein-coding gene	gene with protein product		611513	"neurogenic differentiation 6"			12357074	Standard	NM_022728		Approved	Atoh2, NEX1M, Math-2, bHLHa2, Nex1	uc003tch.4	Q96NK8	OTTHUMG00000022865	ENST00000297142.3:c.961C>T	7.37:g.31377922G>A	ENSP00000297142:p.Arg321Cys						p.R321C	NM_022728.2	NP_073565.2	Q96NK8	NDF6_HUMAN			2	1283	-			321					Q548T9|Q9H3H6	Missense_Mutation	SNP	ENST00000297142.3	37	c.961C>T	CCDS5434.1	.	.	.	.	.	.	.	.	.	.	G	16.33	3.092480	0.55968	.	.	ENSG00000164600	ENST00000297142	D	0.95554	-3.74	5.13	4.19	0.49359	.	0.000000	0.85682	D	0.000000	D	0.96821	0.8962	M	0.63428	1.95	0.80722	D	1	D	0.76494	0.999	D	0.75020	0.985	D	0.97131	0.9818	10	0.87932	D	0	-0.6655	14.379	0.66900	0.0:0.0:0.8515:0.1485	.	321	Q96NK8	NDF6_HUMAN	C	321	ENSP00000297142:R321C	ENSP00000297142:R321C	R	-	1	0	NEUROD6	31344447	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.496000	0.81526	2.386000	0.81285	0.650000	0.86243	CGC		0.478	NEUROD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215050.1	NM_022728		10	145	0	0	0	1	0	10	145					A	31377922	G	A	31377922	3	1	23	1	0	0	0	0	1	0	0	0	10351	1087	38	1	56	1	NEUROD6	7	31377922	Missense_Mutation	SNP	G	TCGA-CH-5751-01A-11D-1576-08		31377922	127760741	19	970											
BBS9	27241	broad.mit.edu	37	chr7	33573723	33573723	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	caccttgctctgcgatagatTatccaaaggtggccgtctct	8	12	9	12	2	2	1	0	0	2	1	4	2	3	1	3	2	2	1	3	2	3	3			TCGA-CH-5751-01A-11D-1576-08	TCGA-CH-5751-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	072e5acd-3329-42b8-9aec-d6166ac61e35	0e96e352-8a8f-4960-ad33-d64018480ff1	g.chr7:33573723T>C	ENST00000242067.6	+	21	2977	c.2456T>C	c.(2455-2457)tTa>tCa	p.L819S	BBS9_ENST00000350941.3_Missense_Mutation_p.L779S|BBS9_ENST00000354265.4_Missense_Mutation_p.L784S|BBS9_ENST00000396127.2_Missense_Mutation_p.L784S|BBS9_ENST00000355070.2_Missense_Mutation_p.L814S	NM_198428.2	NP_940820.1	Q3SYG4	PTHB1_HUMAN	Bardet-Biedl syndrome 9	819					cilium assembly (GO:0042384)|fat cell differentiation (GO:0045444)|protein transport (GO:0015031)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	BBSome (GO:0034464)|cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)		p.L819S(2)	BBS9/PKD1L1(2)	NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	50			GBM - Glioblastoma multiforme(11;0.0894)			TGCGATAGATTATCCAAAGGT	0.493									Bardet-Biedl syndrome																													ENST00000242067.6																		BBS9/PKD1L1(2)	2	Substitution - Missense(2)	p.L819S(2)	prostate(2)	NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	50						c.(2455-2457)tTa>tCa		Bardet-Biedl syndrome 9							129	96	107					7																	33573723		2203	4300	6503	SO:0001583	missense	27241	Bardet-Biedl syndrome	Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome	fat cell differentiation|response to stimulus|visual perception	BBSome|cilium membrane|microtubule organizing center|nucleus	protein binding	g.chr7:33573723T>C		CCDS5441.1, CCDS34618.1, CCDS43566.1, CCDS47572.1	7p14	2014-06-17			ENSG00000122507	ENSG00000122507			30000	protein-coding gene	gene with protein product	"parathyroid hormone responsive B1 gene"	607968				16380913, 10221542	Standard	XM_005249701		Approved	B1, PTHB1	uc003tdn.1	Q3SYG4	OTTHUMG00000128659	ENST00000242067.6:c.2456T>C	7.37:g.33573723T>C	ENSP00000242067:p.Leu819Ser					BBS9_ENST00000354265.4_Missense_Mutation_p.L784S|BBS9_ENST00000350941.3_Missense_Mutation_p.L779S|BBS9_ENST00000355070.2_Missense_Mutation_p.L814S|BBS9_ENST00000396127.2_Missense_Mutation_p.L784S	p.L819S	NM_198428.2	NP_940820.1	Q3SYG4	PTHB1_HUMAN	GBM - Glioblastoma multiforme(11;0.0894)		21	2977	+			819					E9PDC9|P78514|Q7KYS6|Q7KYS7|Q8N570|Q99844|Q99854|Q9Y699|Q9Y6A0	Missense_Mutation	SNP	ENST00000242067.6	37	c.2456T>C	CCDS43566.1	.	.	.	.	.	.	.	.	.	.	T	18.52	3.641140	0.67244	.	.	ENSG00000122507	ENST00000242067;ENST00000350941;ENST00000396127;ENST00000355070;ENST00000354265;ENST00000396132	T;T;T;T;T	0.16196	2.36;2.36;2.36;2.36;2.36	5.93	5.93	0.95920	.	0.094648	0.38837	N	0.001560	T	0.40743	0.1129	M	0.61703	1.905	0.80722	D	1	D;D;D;D;D	0.76494	0.997;0.997;0.999;0.997;0.997	D;D;D;D;D	0.72625	0.964;0.964;0.978;0.964;0.964	T	0.18461	-1.0336	10	0.87932	D	0	-9.3176	16.3943	0.83563	0.0:0.0:0.0:1.0	.	819;779;814;784;819	Q3SYG4-3;Q3SYG4-2;E9PDC9;Q3SYG4-4;Q3SYG4	.;.;.;.;PTHB1_HUMAN	S	819;779;784;814;784;819	ENSP00000242067:L819S;ENSP00000313122:L779S;ENSP00000379433:L784S;ENSP00000347182:L814S;ENSP00000346214:L784S	ENSP00000242067:L819S	L	+	2	0	BBS9	33540248	0.962000	0.33011	0.015000	0.15790	0.725000	0.41563	7.481000	0.81124	2.281000	0.76405	0.533000	0.62120	TTA		0.493	BBS9-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000329064.1			45	86	0	0	0	1	0	45	86					C	33573723	T	C	33573723	3	2	23	1	0	0	0	0	1	0	0	0	1342	1764	61	4	2534	4	BBS9	7	33573723	Missense_Mutation	SNP	T	TCGA-CH-5751-01A-11D-1576-08	2195801	33573723	125564940	20	971											
C7orf23	79161	broad.mit.edu	37	chr7	86848787	86848787	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggtctgttgtccaggccactGgtgccgtaggtcctggtagc	4	11	15	11	1	1	0	0	0	1	0	3	0	3	0	4	5	2	3	4	5	2	3			TCGA-CH-5751-01A-11D-1576-08	TCGA-CH-5751-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	072e5acd-3329-42b8-9aec-d6166ac61e35	0e96e352-8a8f-4960-ad33-d64018480ff1	g.chr7:86848787G>A	ENST00000433078.1	-	2	474	c.33C>T	c.(31-33)acC>acT	p.T11T	TMEM243_ENST00000257637.3_Silent_p.T11T|Y_RNA_ENST00000363527.1_RNA|TMEM243_ENST00000423734.1_Silent_p.T11T|TMEM243_ENST00000481425.1_5'Flank			Q9BU79	TM243_HUMAN	transmembrane protein 243, mitochondrial	11						integral component of membrane (GO:0016021)		p.T11T(1)									CCAGGCCACTGGTGCCGTAGG	0.572																																						ENST00000433078.1																			1	Substitution - coding silent(1)	p.T11T(1)	prostate(1)								c.(31-33)acC>acT		transmembrane protein 243, mitochondrial							117	101	107					7																	86848787		2203	4300	6503	SO:0001819	synonymous_variant	79161							g.chr7:86848787G>A		CCDS5602.1	7q21.12	2012-12-03	2012-12-03	2012-12-03	ENSG00000135185	ENSG00000135185			21707	protein-coding gene	gene with protein product	"MDR1 and mitochondrial taxol resistance associated gene"		"chromosome 7 open reading frame 23"	C7orf23			Standard	NM_024315		Approved	MGC4175, MM-TRAG	uc003uio.3	Q9BU79	OTTHUMG00000130823	ENST00000433078.1:c.33C>T	7.37:g.86848787G>A						TMEM243_ENST00000423734.1_Silent_p.T11T|TMEM243_ENST00000257637.3_Silent_p.T11T	p.T11T							2	474	-								A4D1C6|B2R9I4|D6W5P1	Silent	SNP	ENST00000433078.1	37	c.33C>T	CCDS5602.1																																																																																				0.572	TMEM243-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334412.1	NM_024315		16	68	0	0	0	1	0	16	68					A	86848787	G	A	86848787	2	1	23	1	0	0	0	0	0	0	0	1	2379	1335	47	3		3	C7orf23	7	86848787	Silent	SNP	G	TCGA-CH-5751-01A-11D-1576-08	53275064	86848787	72289876	21	972											
DOK2	9046	broad.mit.edu	37	chr8	21768190	21768190	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	agcttcccactcaccttgtcCcgcccaaagcgccgcagaaa	10	6	7	18	3	1	1	1	0	0	1	3	1	3	1	5	0	2	2	5	0	2	2			TCGA-CH-5751-01A-11D-1576-08	TCGA-CH-5751-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	072e5acd-3329-42b8-9aec-d6166ac61e35	0e96e352-8a8f-4960-ad33-d64018480ff1	g.chr8:21768190C>T	ENST00000276420.4	-	4	870	c.612G>A	c.(610-612)cgG>cgA	p.R204R	DOK2_ENST00000544659.1_Silent_p.R50R	NM_003974.2	NP_003965.2	O60496	DOK2_HUMAN	docking protein 2, 56kDa	204	IRS-type PTB. {ECO:0000255|PROSITE- ProRule:PRU00389}.				blood coagulation (GO:0007596)|cell surface receptor signaling pathway (GO:0007166)|leukocyte migration (GO:0050900)|Ras protein signal transduction (GO:0007265)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytosol (GO:0005829)	receptor signaling protein activity (GO:0005057)	p.R204R(1)		NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(3)|skin(1)	26				Colorectal(74;0.0145)|COAD - Colon adenocarcinoma(73;0.0608)		TCACCTTGTCCCGCCCAAAGC	0.632																																						ENST00000276420.4																			1	Substitution - coding silent(1)	p.R204R(1)	prostate(1)	NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(3)|skin(1)	26						c.(610-612)cgG>cgA		docking protein 2, 56kDa							43	40	41					8																	21768190		2203	4300	6503	SO:0001819	synonymous_variant	9046				blood coagulation|leukocyte migration	cytosol	identical protein binding|insulin receptor binding	g.chr8:21768190C>T	AF034970	CCDS6016.1	8p21.3	2008-08-07	2002-08-29		ENSG00000147443	ENSG00000147443			2991	protein-coding gene	gene with protein product		604997	"docking protein 2, 56kD"			9478921, 14645010	Standard	NM_003974		Approved	p56dok-2, Dok-2	uc003wzy.1	O60496	OTTHUMG00000131075	ENST00000276420.4:c.612G>A	8.37:g.21768190C>T						DOK2_ENST00000544659.1_Silent_p.R50R	p.R204R	NM_003974.2	NP_003965.2	O60496	DOK2_HUMAN		Colorectal(74;0.0145)|COAD - Colon adenocarcinoma(73;0.0608)	4	870	-			204			IRS-type PTB.		Q8N5A4	Silent	SNP	ENST00000276420.4	37	c.612G>A	CCDS6016.1																																																																																				0.632	DOK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253735.3	NM_003974		15	23	0	0	0	1	0	15	23					T	21768190	C	T	21768190	2	4	23	1	0	0	0	0	0	0	0	1	4697	610	22	3		3	DOK2	8	21768190	Silent	SNP	C	TCGA-CH-5751-01A-11D-1576-08		21768190	124595832	22	973											
EPPK1	83481	broad.mit.edu	37	chr8	144942667	144942667	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcagggcctctgggatgctCatcctctcctgggtgccctg	3	11	12	15	0	4	0	2	0	2	0	6	1	5	1	4	3	2	1	4	3	0	0	rs111431754		TCGA-CH-5751-01A-11D-1576-08	TCGA-CH-5751-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	072e5acd-3329-42b8-9aec-d6166ac61e35	0e96e352-8a8f-4960-ad33-d64018480ff1	g.chr8:144942667C>A	ENST00000525985.1	-	2	4826	c.4755G>T	c.(4753-4755)atG>atT	p.M1585I				P58107	EPIPL_HUMAN	epiplakin 1	1585						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	poly(A) RNA binding (GO:0044822)	p.M1585I(1)		NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CTGGGATGCTCATCCTCTCCT	0.647																																						ENST00000525985.1																			1	Substitution - Missense(1)	p.M1585I(1)	prostate(1)	NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						c.(4753-4755)atG>atT		epiplakin 1							23	26	25					8																	144942667		2037	4174	6211	SO:0001583	missense	83481					cytoplasm|cytoskeleton	protein binding|structural molecule activity	g.chr8:144942667C>A	AB051895	CCDS75800.1	8q24.3	2014-09-17				ENSG00000261150			15577	protein-coding gene	gene with protein product	"epidermal autoantigen 450K"	607553				11278896, 15671067	Standard	NM_031308		Approved	EPIPL1	uc003zaa.1	P58107		ENST00000525985.1:c.4755G>T	8.37:g.144942667C>A	ENSP00000436337:p.Met1585Ile						p.M1585I			P58107	EPIPL_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		2	4826	-	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		1585					Q76E58|Q9NSU9	Missense_Mutation	SNP	ENST00000525985.1	37	c.4755G>T		.	.	.	.	.	.	.	.	.	.	C	14.83	2.651173	0.47362	.	.	ENSG00000227184	ENST00000525985	T	0.72394	-0.65	4.41	4.41	0.53225	.	.	.	.	.	T	0.73179	0.3554	L	0.38953	1.18	0.29171	N	0.877109	D	0.54772	0.968	P	0.60886	0.88	T	0.64145	-0.6476	9	0.15499	T	0.54	.	14.5607	0.68133	0.0:1.0:0.0:0.0	.	1585	E9PPU0	.	I	1585	ENSP00000436337:M1585I	ENSP00000436337:M1585I	M	-	3	0	EPPK1	145014655	1.000000	0.71417	0.966000	0.40874	0.994000	0.84299	1.935000	0.40173	2.280000	0.76307	0.591000	0.81541	ATG		0.647	EPPK1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000382675.1	NM_031308		33	26	1	0	1.30897e-18	1	1.53997e-18	33	26					A	144942667	C	A	144942667	3	1	23	1	0	0	0	0	1	0	0	0	5190	826	29	5	2511	5	EPPK1	8	144942667	Missense_Mutation	SNP	C	TCGA-CH-5751-01A-11D-1576-08	123174477	144942667	1421355	23	974											
NOL8	55035	broad.mit.edu	37	chr9	95069196	95069199	+	Frame_Shift_Del	DEL	TGTT	TGTT	-																															cttagcagctactgatcctcTgtttgtagaattgcttaagt																										TCGA-CH-5751-01A-11D-1576-08	TCGA-CH-5751-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	072e5acd-3329-42b8-9aec-d6166ac61e35	0e96e352-8a8f-4960-ad33-d64018480ff1	g.chr9:95069196_95069199delTGTT	ENST00000535387.1	-	9	2679_2682	c.2680_2683delAACA	c.(2680-2685)aacagafs	p.NR894fs	NOL8_ENST00000442668.2_Frame_Shift_Del_p.NR932fs|NOL8_ENST00000358855.4_Frame_Shift_Del_p.NR864fs|NOL8_ENST00000542053.1_Frame_Shift_Del_p.NR864fs|NOL8_ENST00000545558.1_Frame_Shift_Del_p.NR932fs					nucleolar protein 8											endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)	16						ACTGATCCTCTGTTTGTAGAATTG	0.338																																						ENST00000545558.1																			0				endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)	16						c.(2794-2799)gafs		nucleolar protein 8																																				SO:0001589	frameshift_variant	55035				DNA replication|positive regulation of cell growth	nucleolus	nucleotide binding|protein binding|RNA binding	g.chr9:95069196_95069199delTGTT	AB109030	CCDS47993.1, CCDS59135.1	9q22.32	2013-02-12	2004-01-12	2004-01-14	ENSG00000198000	ENSG00000198000		"RNA binding motif (RRM) containing"	23387	protein-coding gene	gene with protein product		611534	"chromosome 9 open reading frame 34"	C9orf34		12477932	Standard	NM_017948		Approved	FLJ20736, Nop132	uc022bjx.1	Q76FK4	OTTHUMG00000020221	ENST00000535387.1:c.2680_2683delAACA	9.37:g.95069196_95069199delTGTT	ENSP00000441300:p.Asn894fs					NOL8_ENST00000535387.1_Frame_Shift_Del_p.NR894fs|NOL8_ENST00000358855.4_Frame_Shift_Del_p.NR864fs|NOL8_ENST00000542053.1_Frame_Shift_Del_p.NR864fs|NOL8_ENST00000442668.2_Frame_Shift_Del_p.NR932fs	p.NR932fs			Q76FK4	NOL8_HUMAN			11	3286_3289	-			932						Frame_Shift_Del	DEL	ENST00000535387.1	37	c.2794_2797delAACA	CCDS47993.1																																																																																				0.338	NOL8-010	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000053082.2	NM_017948		7	281						7	281	---	---	---	---	-	95069199	TGTT	-	95069196	7	5	23	1	0	1	0	1	0	0	0	0	10527	1588	55	0	734	0	NOL8	9	95069196	Frame_Shift_Del	DEL	TGTT	TCGA-CH-5751-01A-11D-1576-08		95069196	46144235	24	975											
KIF18A	81930	broad.mit.edu	37	chr11	28058051	28058051	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagtcttctggtgtatatacAataggctgaagttctttgct	9	16	9	7	0	3	1	0	1	3	0	3	1	3	1	0	2	2	4	0	2	6	7			TCGA-CH-5751-01A-11D-1576-08	TCGA-CH-5751-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	072e5acd-3329-42b8-9aec-d6166ac61e35	0e96e352-8a8f-4960-ad33-d64018480ff1	g.chr11:28058051A>G	ENST00000263181.6	-	14	2399	c.2109T>C	c.(2107-2109)atT>atC	p.I703I		NM_031217.3	NP_112494.3	Q8NI77	KI18A_HUMAN	kinesin family member 18A	703					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic metaphase plate congression (GO:0007080)|protein transport (GO:0015031)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore microtubule (GO:0005828)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)|ruffle (GO:0001726)	actin binding (GO:0003779)|ATP binding (GO:0005524)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|plus-end-directed microtubule motor activity (GO:0008574)|tubulin-dependent ATPase activity (GO:0070463)|ubiquitin binding (GO:0043130)	p.I703I(1)		breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2)	36						GTGTATATACAATAGGCTGAA	0.383																																						ENST00000263181.6																			1	Substitution - coding silent(1)	p.I703I(1)	prostate(1)	breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2)	36						c.(2107-2109)atT>atC		kinesin family member 18A							97	99	99					11																	28058051		2202	4298	6500	SO:0001819	synonymous_variant	81930				blood coagulation|microtubule depolymerization|microtubule-based movement|mitotic metaphase plate congression|mitotic prometaphase|protein transport	caveola|cytosol|kinetochore microtubule|microtubule organizing center|nucleus|ruffle	actin binding|ATP binding|microtubule plus-end binding|plus-end-directed microtubule motor activity|tubulin-dependent ATPase activity|ubiquitin binding	g.chr11:28058051A>G	AL136819	CCDS7867.1	11p14.1	2014-06-12			ENSG00000121621	ENSG00000121621		"Kinesins"	29441	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 99"	611271				11230166	Standard	NM_031217		Approved	DKFZP434G2226, PPP1R99	uc001msc.2	Q8NI77	OTTHUMG00000166195	ENST00000263181.6:c.2109T>C	11.37:g.28058051A>G							p.I703I	NM_031217.3	NP_112494.3	Q8NI77	KI18A_HUMAN			14	2399	-			703					Q4VPE3|Q86VS5|Q9H0F3	Silent	SNP	ENST00000263181.6	37	c.2109T>C	CCDS7867.1																																																																																				0.383	KIF18A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388328.3	NM_031217		48	191	0	0	0	1	0	48	191					G	28058051	A	G	28058051	2	3	23	1	0	0	0	0	0	0	0	1	8280	126	5	4		4	KIF18A	11	28058051	Silent	SNP	A	TCGA-CH-5751-01A-11D-1576-08		28058051	106948465	25	976											
CATSPER1	117144	broad.mit.edu	37	chr11	65793239	65793239	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggtgatgctgggactcatcGtgttggagcccgctaaggtg	6	11	16	8	2	1	1	1	1	0	0	2	3	1	3	1	4	2	3	1	4	1	2			TCGA-CH-5751-01A-11D-1576-08	TCGA-CH-5751-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	072e5acd-3329-42b8-9aec-d6166ac61e35	0e96e352-8a8f-4960-ad33-d64018480ff1	g.chr11:65793239G>A	ENST00000312106.5	-	1	749	c.612C>T	c.(610-612)caC>caT	p.H204H		NM_053054.3	NP_444282.3	Q8NEC5	CTSR1_HUMAN	cation channel, sperm associated 1	204	His-rich.				calcium ion import (GO:0070509)|cell differentiation (GO:0030154)|fusion of sperm to egg plasma membrane (GO:0007342)|membrane depolarization during action potential (GO:0086010)|multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|regulation of calcium ion transport (GO:0051924)|regulation of cilium beat frequency involved in ciliary motility (GO:0060296)|single fertilization (GO:0007338)|sperm motility (GO:0030317)|sperm-egg recognition (GO:0035036)|spermatogenesis (GO:0007283)	CatSper complex (GO:0036128)|motile cilium (GO:0031514)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|voltage-gated calcium channel activity (GO:0005245)	p.H204H(1)		breast(3)|central_nervous_system(1)|endometrium(9)|kidney(3)|large_intestine(6)|liver(3)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44						GGGACTCATCGTGTTGGAGCC	0.617																																						ENST00000312106.5																			1	Substitution - coding silent(1)	p.H204H(1)	prostate(1)	breast(3)|central_nervous_system(1)|endometrium(9)|kidney(3)|large_intestine(6)|liver(3)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44						c.(610-612)caC>caT		cation channel, sperm associated 1							86	76	79					11																	65793239		2201	4296	6497	SO:0001819	synonymous_variant	117144				cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	protein binding	g.chr11:65793239G>A	AF407333	CCDS8127.1	11q12.1	2011-07-05			ENSG00000175294	ENSG00000175294		"Voltage-gated ion channels / Cation channels, sperm associated"	17116	protein-coding gene	gene with protein product		606389				11675491, 11595941, 16382101	Standard	NM_053054		Approved	CATSPER	uc001ogt.3	Q8NEC5	OTTHUMG00000166668	ENST00000312106.5:c.612C>T	11.37:g.65793239G>A							p.H204H	NM_053054.3	NP_444282.3	Q8NEC5	CTSR1_HUMAN			1	749	-			204			His-rich.		Q96P76	Silent	SNP	ENST00000312106.5	37	c.612C>T	CCDS8127.1																																																																																				0.617	CATSPER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391055.1	NM_053054		5	137	0	0	0	1	0	5	137					A	65793239	G	A	65793239	2	1	23	1	0	0	0	0	0	0	0	1	2687	1136	40	1		1	CATSPER1	11	65793239	Silent	SNP	G	TCGA-CH-5751-01A-11D-1576-08	37735188	65793239	69213277	26	977											
CABP4	57010	broad.mit.edu	37	chr11	67223061	67223061	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	agggtctcgaaagcgcactgGcagctctggggagcagacag	10	5	16	10	2	2	1	0	0	2	1	3	3	2	2	0	4	3	4	0	4	1	0			TCGA-CH-5751-01A-11D-1576-08	TCGA-CH-5751-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	072e5acd-3329-42b8-9aec-d6166ac61e35	0e96e352-8a8f-4960-ad33-d64018480ff1	g.chr11:67223061G>A	ENST00000325656.5	+	1	244	c.167G>A	c.(166-168)gGc>gAc	p.G56D	CABP4_ENST00000542025.2_3'UTR|GPR152_ENST00000312457.2_5'Flank|CABP4_ENST00000438189.2_Intron	NM_145200.3	NP_660201.1	P57796	CABP4_HUMAN	calcium binding protein 4	56					photoreceptor cell morphogenesis (GO:0008594)|phototransduction (GO:0007602)|retinal bipolar neuron differentiation (GO:0060040)|retinal cone cell development (GO:0046549)|signal transduction (GO:0007165)|visual perception (GO:0007601)	cytosol (GO:0005829)|extracellular region (GO:0005576)|synapse (GO:0045202)|terminal bouton (GO:0043195)	calcium ion binding (GO:0005509)	p.G56D(1)		central_nervous_system(2)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(2)	11			BRCA - Breast invasive adenocarcinoma(15;8.18e-06)			AAGCGCACTGGCAGCTCTGGG	0.687																																						ENST00000325656.5																			1	Substitution - Missense(1)	p.G56D(1)	prostate(1)	central_nervous_system(2)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(2)	11						c.(166-168)gGc>gAc		calcium binding protein 4							13	14	14					11																	67223061		2186	4274	6460	SO:0001583	missense	57010				visual perception	cytoplasm|extracellular region|terminal button	calcium ion binding	g.chr11:67223061G>A	AC005849	CCDS8166.1, CCDS73333.1	11q13.2	2013-09-20			ENSG00000175544	ENSG00000175544		"EF-hand domain containing"	1386	protein-coding gene	gene with protein product		608965				10625670, 16960802	Standard	NM_145200		Approved	CSNB2B	uc001olo.3	P57796	OTTHUMG00000168033	ENST00000325656.5:c.167G>A	11.37:g.67223061G>A	ENSP00000324960:p.Gly56Asp					CABP4_ENST00000542025.2_3'UTR|CABP4_ENST00000438189.2_Intron	p.G56D	NM_145200.3	NP_660201.1	P57796	CABP4_HUMAN	BRCA - Breast invasive adenocarcinoma(15;8.18e-06)		1	244	+			56					Q8N4Z2|Q8WWY5	Missense_Mutation	SNP	ENST00000325656.5	37	c.167G>A	CCDS8166.1	.	.	.	.	.	.	.	.	.	.	G	8.956	0.969339	0.18659	.	.	ENSG00000175544	ENST00000325656	T	0.67698	-0.28	4.74	1.51	0.23008	.	1.631250	0.03825	N	0.268157	T	0.62539	0.2436	L	0.54323	1.7	0.09310	N	0.999997	B	0.12013	0.005	B	0.08055	0.003	T	0.51004	-0.8760	10	0.87932	D	0	-8.099	6.4332	0.21809	0.1031:0.3743:0.5225:0.0	.	56	P57796	CABP4_HUMAN	D	56	ENSP00000324960:G56D	ENSP00000324960:G56D	G	+	2	0	CABP4	66979637	0.020000	0.18652	0.639000	0.29394	0.184000	0.23303	0.231000	0.17872	0.508000	0.28173	0.491000	0.48974	GGC		0.687	CABP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397624.2			13	9	0	0	0	1	0	13	9					A	67223061	G	A	67223061	3	1	23	1	0	0	0	0	1	0	0	0	2533	1203	42	3	169	3	CABP4	11	67223061	Missense_Mutation	SNP	G	TCGA-CH-5751-01A-11D-1576-08	1429822	67223061	67783455	27	978											
ACY3	91703	broad.mit.edu	37	chr11	67412278	67412278	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caggtgcccggcctcggtgcGggggaagtccacgacgccca	6	4	16	15	5	0	0	0	0	0	0	2	2	1	1	4	5	2	0	4	5	1	0			TCGA-CH-5751-01A-11D-1576-08	TCGA-CH-5751-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	072e5acd-3329-42b8-9aec-d6166ac61e35	0e96e352-8a8f-4960-ad33-d64018480ff1	g.chr11:67412278G>A	ENST00000255082.3	-	7	867	c.697C>T	c.(697-699)Cgc>Tgc	p.R233C	ACY3_ENST00000529256.1_Missense_Mutation_p.R112C	NM_080658.1	NP_542389.1	Q96HD9	ACY3_HUMAN	aspartoacylase (aminocyclase) 3	233	Shielding domain. {ECO:0000250}.				viral process (GO:0016032)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	aminoacylase activity (GO:0004046)|hydrolase activity, acting on ester bonds (GO:0016788)|metal ion binding (GO:0046872)	p.R233C(1)		endometrium(1)|lung(5)|prostate(2)	8					L-Aspartic Acid(DB00128)	GCCTCGGTGCGGGGGAAGTCC	0.632																																					GBM(56;346 1011 27014 29495 46841)	ENST00000255082.3																			1	Substitution - Missense(1)	p.R233C(1)	prostate(1)	endometrium(1)|lung(5)|prostate(2)	8						c.(697-699)Cgc>Tgc		aspartoacylase (aminocyclase) 3	L-Aspartic Acid(DB00128)						43	34	37					11																	67412278		2183	4288	6471	SO:0001583	missense	91703				interspecies interaction between organisms	apical plasma membrane|cytoplasm	hydrolase activity, acting on ester bonds|metal ion binding	g.chr11:67412278G>A	BC008689	CCDS8175.1	11q13.2	2014-08-08			ENSG00000132744	ENSG00000132744			24104	protein-coding gene	gene with protein product		614413				14656720	Standard	NM_080658		Approved	HCBP1, MGC9740, ACY-3	uc001omq.3	Q96HD9	OTTHUMG00000167283	ENST00000255082.3:c.697C>T	11.37:g.67412278G>A	ENSP00000255082:p.Arg233Cys					ACY3_ENST00000529256.1_Missense_Mutation_p.R112C	p.R233C	NM_080658.1	NP_542389.1	Q96HD9	ACY3_HUMAN			7	867	-			233						Missense_Mutation	SNP	ENST00000255082.3	37	c.697C>T	CCDS8175.1	.	.	.	.	.	.	.	.	.	.	G	11.94	1.788295	0.31593	.	.	ENSG00000132744	ENST00000255082;ENST00000529256	D;D	0.97906	-4.6;-4.6	3.38	2.46	0.29980	.	0.059042	0.64402	N	0.000007	D	0.95758	0.8620	M	0.82517	2.595	0.25896	N	0.983415	P	0.34997	0.479	B	0.23275	0.045	D	0.92165	0.5739	10	0.87932	D	0	-24.6543	8.5045	0.33179	0.118:0.0:0.882:0.0	.	233	Q96HD9	ACY3_HUMAN	C	233;112	ENSP00000255082:R233C;ENSP00000434270:R112C	ENSP00000255082:R233C	R	-	1	0	ACY3	67168854	0.001000	0.12720	0.053000	0.19242	0.061000	0.15899	0.216000	0.17585	1.022000	0.39626	0.561000	0.74099	CGC		0.632	ACY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394002.1	NM_080658		4	7	0	0	0	1	0	4	7					A	67412278	G	A	67412278	3	1	23	1	0	0	0	0	1	0	0	0	227	1116	39	2	270	2	ACY3	11	67412278	Missense_Mutation	SNP	G	TCGA-CH-5751-01A-11D-1576-08	189217	67412278	67594238	28	979											
TRPC6	7225	broad.mit.edu	37	chr11	101374961	101374961	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcagaaataatcatgaggccGttcaatcctagcacccttcc	12	9	7	13	1	2	2	2	1	0	1	4	2	4	2	4	1	1	3	4	1	4	4	rs201859973		TCGA-CH-5751-01A-11D-1576-08	TCGA-CH-5751-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	072e5acd-3329-42b8-9aec-d6166ac61e35	0e96e352-8a8f-4960-ad33-d64018480ff1	g.chr11:101374961G>A	ENST00000344327.3	-	2	1163	c.739C>T	c.(739-741)Cgg>Tgg	p.R247W	TRPC6_ENST00000532133.1_Missense_Mutation_p.R247W|TRPC6_ENST00000348423.4_Missense_Mutation_p.R247W|TRPC6_ENST00000526713.1_5'Flank|TRPC6_ENST00000360497.4_Missense_Mutation_p.R247W	NM_004621.5	NP_004612.2	Q9Y210	TRPC6_HUMAN	transient receptor potential cation channel, subfamily C, member 6	247					aging (GO:0007568)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cation transport (GO:0006812)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to hypoxia (GO:0071456)|ion transmembrane transport (GO:0034220)|platelet activation (GO:0030168)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of ion transmembrane transporter activity (GO:0032414)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|slit diaphragm (GO:0036057)	inositol 1,4,5 trisphosphate binding (GO:0070679)|store-operated calcium channel activity (GO:0015279)	p.R247W(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(14)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162)		BRCA - Breast invasive adenocarcinoma(274;0.0442)		TCATGAGGCCGTTCAATCCTA	0.478																																					Colon(166;1315 1927 11094 12848 34731)	ENST00000344327.3																			1	Substitution - Missense(1)	p.R247W(1)	prostate(1)	autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(14)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						c.(739-741)Cgg>Tgg		transient receptor potential cation channel, subfamily C, member 6							124	110	115					11																	101374961		2203	4299	6502	SO:0001583	missense	7225				axon guidance|platelet activation|positive regulation of calcium ion transport via store-operated calcium channel activity	integral to membrane|plasma membrane	protein binding	g.chr11:101374961G>A	AJ006276	CCDS8311.1	11q22.1	2014-02-04				ENSG00000137672		"Voltage-gated ion channels / Transient receptor potential cation channels"	12338	protein-coding gene	gene with protein product		603652	"focal segmental glomerulosclerosis 2"	FSGS2		9925922, 16382100, 15879175	Standard	NM_004621		Approved	TRP6	uc001pgk.4	Q9Y210		ENST00000344327.3:c.739C>T	11.37:g.101374961G>A	ENSP00000340913:p.Arg247Trp					TRPC6_ENST00000360497.4_Missense_Mutation_p.R247W|TRPC6_ENST00000348423.4_Missense_Mutation_p.R247W|TRPC6_ENST00000532133.1_Missense_Mutation_p.R247W	p.R247W	NM_004621.5	NP_004612.2	Q9Y210	TRPC6_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.0442)	2	1163	-		Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162)	247					Q52M59|Q9HCW3|Q9NQA8|Q9NQA9	Missense_Mutation	SNP	ENST00000344327.3	37	c.739C>T	CCDS8311.1	.	.	.	.	.	.	.	.	.	.	G	17.53	3.412870	0.62511	.	.	ENSG00000137672	ENST00000344327;ENST00000532133;ENST00000348423;ENST00000360497	T;T;T;T	0.70986	-0.53;-0.53;-0.53;-0.53	5.84	3.77	0.43336	Ankyrin repeat-containing domain (3);	0.159187	0.56097	D	0.000039	T	0.79851	0.4517	L	0.58428	1.81	0.51767	D	0.999938	D;D;D	0.89917	1.0;1.0;0.999	D;D;P	0.81914	0.931;0.995;0.855	T	0.80865	-0.1191	10	0.56958	D	0.05	-14.4187	12.4259	0.55546	0.0:0.0:0.3802:0.6198	.	247;247;247	Q9Y210-3;Q9Y210-2;Q9Y210	.;.;TRPC6_HUMAN	W	247	ENSP00000340913:R247W;ENSP00000435574:R247W;ENSP00000343672:R247W;ENSP00000353687:R247W	ENSP00000340913:R247W	R	-	1	2	TRPC6	100880171	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	2.294000	0.43567	1.407000	0.46875	0.650000	0.86243	CGG		0.478	TRPC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394770.1	NM_004621		79	180	0	0	0	1	0	79	180					A	101374961	G	A	101374961	3	1	23	1	0	0	0	0	1	0	0	0	16580	1144	40	1	2104	1	TRPC6	11	101374961	Missense_Mutation	SNP	G	TCGA-CH-5751-01A-11D-1576-08	33962683	101374961	33631555	29	980											
ABCC9	10060	broad.mit.edu	37	chr12	22035727	22035727	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcaatgtcctctgtttctgcGggacgtagacgccgtgttga	6	12	13	10	4	2	2	0	1	2	1	3	3	3	3	2	1	1	4	2	1	2	3			TCGA-CH-5751-01A-11D-1576-08	TCGA-CH-5751-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	072e5acd-3329-42b8-9aec-d6166ac61e35	0e96e352-8a8f-4960-ad33-d64018480ff1	g.chr12:22035727G>A	ENST00000261201.4	-	14	1991	c.1992C>T	c.(1990-1992)ccC>ccT	p.P664P	ABCC9_ENST00000345162.2_Intron|RP11-729I10.2_ENST00000539874.1_RNA|ABCC9_ENST00000261200.4_Silent_p.P664P	NM_005691.2	NP_005682.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	664					defense response to virus (GO:0051607)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	ATP-sensitive potassium channel complex (GO:0008282)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcomere (GO:0030017)|voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|ion channel binding (GO:0044325)|potassium channel activity (GO:0005267)|potassium channel regulator activity (GO:0015459)|sulfonylurea receptor activity (GO:0008281)|transporter activity (GO:0005215)	p.P664P(3)|p.A665fs*57(2)		NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glyburide(DB01016)	CTGTTTCTGCGGGACGTAGAC	0.383																																						ENST00000261200.4																			5	Substitution - coding silent(3)|Insertion - Frameshift(2)	p.P664P(3)|p.A665fs*57(2)	lung(2)|breast(2)|prostate(1)	NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118						c.(1990-1992)ccC>ccT		ATP-binding cassette, sub-family C (CFTR/MRP), member 9	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)						175	144	154					12																	22035727		2203	4300	6503	SO:0001819	synonymous_variant	10060				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity	g.chr12:22035727G>A	AF061323	CCDS8693.1, CCDS8694.1	12p12.1	2014-09-17			ENSG00000069431	ENSG00000069431		"ATP binding cassette transporters / subfamily C"	60	protein-coding gene	gene with protein product	"sulfonylurea receptor 2"	601439				9457174, 15034580	Standard	NM_020297		Approved	SUR2, CMD1O	uc001rfh.3	O60706	OTTHUMG00000169094	ENST00000261201.4:c.1992C>T	12.37:g.22035727G>A						ABCC9_ENST00000345162.2_Intron|RP11-729I10.2_ENST00000539874.1_RNA|ABCC9_ENST00000261201.4_Silent_p.P664P	p.P664P	NM_020297.2	NP_064693.2	O60706	ABCC9_HUMAN			14	1991	-			664					O60707	Silent	SNP	ENST00000261201.4	37	c.1992C>T	CCDS8694.1																																																																																				0.383	ABCC9-002	KNOWN	not_organism_supported|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402230.1	NM_005691		56	232	0	0	0	1	0	56	232					A	22035727	G	A	22035727	2	1	23	1	0	0	0	0	0	0	0	1	59	1103	39	2		2	ABCC9	12	22035727	Silent	SNP	G	TCGA-CH-5751-01A-11D-1576-08		22035727	111816168	30	981											
SLITRK5	26050	broad.mit.edu	37	chr13	88329453	88329453	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aattcgctgagaccgacatgCgctccattaagtcggagctg	10	9	11	11	4	0	1	0	1	0	1	3	4	1	2	2	1	2	3	2	1	2	2	rs371327441		TCGA-CH-5751-01A-11D-1576-08	TCGA-CH-5751-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	072e5acd-3329-42b8-9aec-d6166ac61e35	0e96e352-8a8f-4960-ad33-d64018480ff1	g.chr13:88329453C>T	ENST00000325089.6	+	2	2029	c.1810C>T	c.(1810-1812)Cgc>Tgc	p.R604C	SLITRK5_ENST00000400028.3_Missense_Mutation_p.R363C	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5	604	LRRCT 2.				adult behavior (GO:0030534)|axonogenesis (GO:0007409)|cardiovascular system development (GO:0072358)|dendrite morphogenesis (GO:0048813)|grooming behavior (GO:0007625)|response to xenobiotic stimulus (GO:0009410)|skin development (GO:0043588)|striatum development (GO:0021756)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)		p.R604C(1)		breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81	all_neural(89;0.101)|Medulloblastoma(90;0.163)					GACCGACATGCGCTCCATTAA	0.567																																						ENST00000325089.6																			1	Substitution - Missense(1)	p.R604C(1)	prostate(1)	breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81						c.(1810-1812)Cgc>Tgc		SLIT and NTRK-like family, member 5		C	CYS/ARG	0,4406		0,0,2203	165	150	155		1810	4.5	1	13		155	1,8599	1.2+/-3.3	0,1,4299	no	missense	SLITRK5	NM_015567.1	180	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	604/959	88329453	1,13005	2203	4300	6503	SO:0001583	missense	26050					integral to membrane		g.chr13:88329453C>T	AB020725	CCDS9465.1	13q31.1	2004-04-16	2004-01-08		ENSG00000165300	ENSG00000165300			20295	protein-coding gene	gene with protein product		609680	"leucine rich repeat containing 11"	LRRC11		10048485, 14557068	Standard	NM_015567		Approved	bA364G4.2, KIAA0918	uc001vln.3	O94991	OTTHUMG00000017167	ENST00000325089.6:c.1810C>T	13.37:g.88329453C>T	ENSP00000366283:p.Arg604Cys					SLITRK5_ENST00000400028.3_Missense_Mutation_p.R363C	p.R604C	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN			2	2029	+	all_neural(89;0.101)|Medulloblastoma(90;0.163)		604			LRRCT 2.		B3KNB8|B4DSH5|Q5VT81	Missense_Mutation	SNP	ENST00000325089.6	37	c.1810C>T	CCDS9465.1	.	.	.	.	.	.	.	.	.	.	C	16.04	3.011439	0.54468	0.0	1.16E-4	ENSG00000165300	ENST00000325089;ENST00000400028	T;T	0.61158	0.13;0.49	5.47	4.54	0.55810	Cysteine-rich flanking region, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.78033	0.4220	M	0.87971	2.92	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79784	0.987;0.993	T	0.81450	-0.0927	9	.	.	.	-15.1954	14.535	0.67953	0.1566:0.8434:0.0:0.0	.	363;604	B4DSH5;O94991	.;SLIK5_HUMAN	C	604;363	ENSP00000366283:R604C;ENSP00000442244:R363C	.	R	+	1	0	SLITRK5	87127454	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	3.167000	0.50793	2.554000	0.86153	0.555000	0.69702	CGC		0.567	SLITRK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045416.3			21	208	0	0	0	1	0	21	208					T	88329453	C	T	88329453	3	4	23	1	0	0	0	0	1	0	0	0	14746	768	27	1	1812	1	SLITRK5	13	88329453	Missense_Mutation	SNP	C	TCGA-CH-5751-01A-11D-1576-08		88329453	26840425	31	982											
FUT8	2530	broad.mit.edu	37	chr14	66208993	66208993	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctggagatatcattggtgtGgctggaaatcattgggatgg	9	12	15	5	0	2	1	2	0	0	1	2	4	2	3	1	6	0	1	1	6	2	3			TCGA-CH-5751-01A-11D-1576-08	TCGA-CH-5751-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	072e5acd-3329-42b8-9aec-d6166ac61e35	0e96e352-8a8f-4960-ad33-d64018480ff1	g.chr14:66208993G>C	ENST00000360689.5	+	11	3320	c.1593G>C	c.(1591-1593)gtG>gtC	p.V531V	FUT8_ENST00000394585.1_Silent_p.V531V|FUT8_ENST00000394586.2_Silent_p.V531V|FUT8_ENST00000557164.1_Silent_p.V368V|FUT8_ENST00000417683.1_Silent_p.V125V|FUT8_ENST00000358307.2_Silent_p.V402V	NM_004480.4|NM_178155.2	NP_004471.4|NP_835368.1	Q9BYC5	FUT8_HUMAN	fucosyltransferase 8 (alpha (1,6) fucosyltransferase)	531	SH3.				cell migration (GO:0016477)|cellular protein metabolic process (GO:0044267)|GDP-L-fucose metabolic process (GO:0046368)|in utero embryonic development (GO:0001701)|integrin-mediated signaling pathway (GO:0007229)|L-fucose catabolic process (GO:0042355)|N-glycan fucosylation (GO:0036071)|N-glycan processing (GO:0006491)|oligosaccharide biosynthetic process (GO:0009312)|post-translational protein modification (GO:0043687)|protein glycosylation in Golgi (GO:0033578)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)|receptor metabolic process (GO:0043112)|respiratory gaseous exchange (GO:0007585)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi cisterna membrane (GO:0032580)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	glycoprotein 6-alpha-L-fucosyltransferase activity (GO:0008424)	p.V531V(2)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)	22				all cancers(60;0.00109)|OV - Ovarian serous cystadenocarcinoma(108;0.00242)|BRCA - Breast invasive adenocarcinoma(234;0.0114)		TCATTGGTGTGGCTGGAAATC	0.463																																						ENST00000360689.5																			2	Substitution - coding silent(2)	p.V531V(2)	prostate(2)	endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)	22						c.(1591-1593)gtG>gtC		fucosyltransferase 8 (alpha (1,6) fucosyltransferase)							123	122	123					14																	66208993		2203	4300	6503	SO:0001819	synonymous_variant	2530				in utero embryonic development|L-fucose catabolic process|N-glycan processing|oligosaccharide biosynthetic process|post-translational protein modification|protein glycosylation in Golgi|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|integral to membrane	glycoprotein 6-alpha-L-fucosyltransferase activity|SH3 domain binding	g.chr14:66208993G>C	AB049740	CCDS9775.1, CCDS9776.1, CCDS9776.2	14q24.3	2013-02-26			ENSG00000033170	ENSG00000033170		"Fucosyltransferases"	4019	protein-coding gene	gene with protein product		602589				9368041	Standard	NM_178155		Approved		uc001xio.3	Q9BYC5	OTTHUMG00000142818	ENST00000360689.5:c.1593G>C	14.37:g.66208993G>C						FUT8_ENST00000417683.1_Silent_p.V125V|FUT8_ENST00000394586.2_Silent_p.V531V|FUT8_ENST00000557164.1_Silent_p.V368V|FUT8_ENST00000394585.1_Silent_p.V531V|FUT8_ENST00000358307.2_Silent_p.V402V	p.V531V	NM_004480.4|NM_178155.2	NP_004471.4|NP_835368.1	Q9BYC5	FUT8_HUMAN		all cancers(60;0.00109)|OV - Ovarian serous cystadenocarcinoma(108;0.00242)|BRCA - Breast invasive adenocarcinoma(234;0.0114)	11	3320	+			531			SH3.		B4DFS7|G3V5N0|O00235|Q8IUA5|Q9BYC6|Q9P2U5|Q9P2U6	Silent	SNP	ENST00000360689.5	37	c.1593G>C	CCDS9775.1																																																																																				0.463	FUT8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286406.1	NM_004480		20	181	0	0	0	1	0	20	181					C	66208993	G	C	66208993	2	2	23	1	0	0	0	0	0	0	0	1	6110	1335	47	5		5	FUT8	14	66208993	Silent	SNP	G	TCGA-CH-5751-01A-11D-1576-08		66208993	41140547	32	983											
IL21R	50615	broad.mit.edu	37	chr16	27455956	27455956	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cgagctatgagctgcaggtgCgggcagggcccatgcctggc	6	6	17	12	2	0	1	0	1	0	0	0	2	0	1	2	4	5	4	2	4	1	1			TCGA-CH-5751-01A-11D-1576-08	TCGA-CH-5751-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	072e5acd-3329-42b8-9aec-d6166ac61e35	0e96e352-8a8f-4960-ad33-d64018480ff1	g.chr16:27455956C>T	ENST00000337929.3	+	6	1074	c.601C>T	c.(601-603)Cgg>Tgg	p.R201W	IL21R_ENST00000564089.1_Missense_Mutation_p.R201W|IL21R_ENST00000395754.4_Missense_Mutation_p.R201W|IL21R_ENST00000564583.1_3'UTR|IL21R_ENST00000395755.1_Missense_Mutation_p.R201W	NM_181078.2	NP_851564.1	Q9HBE5	IL21R_HUMAN	interleukin 21 receptor	201	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.		R -> L (in IL21RID; loss of function mutation; the mutation results in defective trafficking of the protein, with misfolding, impaired processing and abnormal subcellular distribution rather than proper expression at the plasma membrane). {ECO:0000269|PubMed:23440042}.		interleukin-21-mediated signaling pathway (GO:0038114)|natural killer cell activation (GO:0030101)	integral component of membrane (GO:0016021)	interleukin-21 receptor activity (GO:0001532)	p.R201W(1)		breast(2)|large_intestine(3)|lung(1)|ovary(2)	8						GCTGCAGGTGCGGGCAGGGCC	0.597			T	BCL6	NHL																																	ENST00000337929.3				Dom	yes		16	16p11	50615	T	interleukin 21 receptor			L	BCL6		NHL		1	Substitution - Missense(1)	p.R201W(1)	prostate(1)	breast(2)|large_intestine(3)|lung(1)|ovary(2)	8						c.(601-603)Cgg>Tgg		interleukin 21 receptor							84	80	82					16																	27455956		2197	4300	6497	SO:0001583	missense	50615				natural killer cell activation	integral to membrane	interleukin-21 receptor activity	g.chr16:27455956C>T	AF254067	CCDS10630.1	16p11	2014-09-17			ENSG00000103522	ENSG00000103522		"Interleukins and interleukin receptors", "CD molecules"	6006	protein-coding gene	gene with protein product		605383				11081504	Standard	NM_181078		Approved	CD360	uc002dos.2	Q9HBE5	OTTHUMG00000131675	ENST00000337929.3:c.601C>T	16.37:g.27455956C>T	ENSP00000338010:p.Arg201Trp					IL21R_ENST00000395755.1_Missense_Mutation_p.R201W|IL21R_ENST00000395754.4_Missense_Mutation_p.R201W|IL21R_ENST00000564583.1_3'UTR|IL21R_ENST00000564089.1_Missense_Mutation_p.R201W	p.R201W	NM_181078.2	NP_851564.1	Q9HBE5	IL21R_HUMAN			6	1074	+			201			Fibronectin type-III.		A8K9E8|D3DWF7|Q96HZ1|Q9HB91	Missense_Mutation	SNP	ENST00000337929.3	37	c.601C>T	CCDS10630.1	.	.	.	.	.	.	.	.	.	.	C	19.92	3.917048	0.73098	.	.	ENSG00000103522	ENST00000337929;ENST00000395755;ENST00000395754	D;D;D	0.97575	-4.44;-4.44;-4.44	4.3	4.3	0.51218	Short hematopoietin receptor, family 1, conserved site (1);Fibronectin, type III (2);Immunoglobulin-like fold (1);	0.067143	0.64402	D	0.000015	D	0.98134	0.9384	M	0.81497	2.545	0.49915	D	0.999836	D	0.89917	1.0	D	0.97110	1.0	D	0.98773	1.0729	10	0.87932	D	0	-32.3698	12.2813	0.54765	0.0:1.0:0.0:0.0	.	201	Q9HBE5	IL21R_HUMAN	W	201	ENSP00000338010:R201W;ENSP00000379104:R201W;ENSP00000379103:R201W	ENSP00000338010:R201W	R	+	1	2	IL21R	27363457	1.000000	0.71417	1.000000	0.80357	0.785000	0.44390	1.974000	0.40559	1.936000	0.56123	0.561000	0.74099	CGG		0.597	IL21R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254578.2	NM_181078		8	239	0	0	0	1	0	8	239					T	27455956	C	T	27455956	3	4	23	1	0	0	0	0	1	0	0	0	7671	759	27	1	619	1	IL21R	16	27455956	Missense_Mutation	SNP	C	TCGA-CH-5751-01A-11D-1576-08		27455956	62898797	33	984											
NLRP1	22861	broad.mit.edu	37	chr17	5462267	5462268	+	Frame_Shift_Ins	INS	-	-	T																															catctggactgaaaagggtcINStttttttgccagatgccctc																										TCGA-CH-5751-01A-11D-1576-08	TCGA-CH-5751-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	072e5acd-3329-42b8-9aec-d6166ac61e35	0e96e352-8a8f-4960-ad33-d64018480ff1	g.chr17:5462267_5462268insT	ENST00000572272.1	-	4	1747_1748	c.1748_1749insA	c.(1747-1749)aagfs	p.K583fs	NLRP1_ENST00000345221.3_Frame_Shift_Ins_p.K583fs|NLRP1_ENST00000354411.3_Frame_Shift_Ins_p.K583fs|NLRP1_ENST00000577119.1_Frame_Shift_Ins_p.K583fs|NLRP1_ENST00000262467.5_Frame_Shift_Ins_p.K583fs|NLRP1_ENST00000571307.1_5'UTR|NLRP1_ENST00000269280.4_Frame_Shift_Ins_p.K583fs			Q9C000	NALP1_HUMAN	NLR family, pyrin domain containing 1	583	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|defense response to bacterium (GO:0042742)|innate immune response (GO:0045087)|neuron apoptotic process (GO:0051402)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of interleukin-1 beta secretion (GO:0050718)|regulation of inflammatory response (GO:0050727)|response to muramyl dipeptide (GO:0032495)	cytosol (GO:0005829)|intracellular (GO:0005622)|NLRP1 inflammasome complex (GO:0072558)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|enzyme binding (GO:0019899)|protein domain specific binding (GO:0019904)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(17)|liver(5)|lung(17)|ovary(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Colorectal(1115;3.48e-05)				TGAAAAGGGTCTTTTTTTGCCA	0.535																																						ENST00000345221.3																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(17)|liver(5)|lung(17)|ovary(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						c.(1747-1749)aacfs		NLR family, pyrin domain containing 1																																				SO:0001589	frameshift_variant	22861				defense response to bacterium|induction of apoptosis|neuron apoptosis|positive regulation of interleukin-1 beta secretion|response to muramyl dipeptide	cytoplasm|NALP1 inflammasome complex|nucleus	ATP binding|caspase activator activity|enzyme binding|protein domain specific binding	g.chr17:5462267_5462268insT	AB023143	CCDS32537.1, CCDS42244.1, CCDS42245.1, CCDS42246.1, CCDS58508.1	17p13	2014-01-29	2006-12-08	2006-12-08	ENSG00000091592	ENSG00000091592		"Nucleotide-binding domain and leucine rich repeat containing"	14374	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 1"	606636	"NACHT, leucine rich repeat and PYD (pyrin domain) containing 1", "systemic lupus erythematosus, vitiligo-related 1"	NALP1, SLEV1		8781126, 12563287, 17377159	Standard	NM_033006		Approved	KIAA0926, DKFZp586O1822, CARD7, NAC, CLR17.1, DEFCAP, VAMAS1	uc002gci.3	Q9C000		ENST00000572272.1:c.1749dupA	17.37:g.5462274_5462274dupT	ENSP00000460475:p.Lys583fs					NLRP1_ENST00000577119.1_Frame_Shift_Ins_p.N583fs|NLRP1_ENST00000572272.1_Frame_Shift_Ins_p.N583fs|NLRP1_ENST00000571307.1_5'UTR|NLRP1_ENST00000354411.3_Frame_Shift_Ins_p.N583fs|NLRP1_ENST00000269280.4_Frame_Shift_Ins_p.N583fs|NLRP1_ENST00000262467.5_Frame_Shift_Ins_p.N583fs	p.N583fs	NM_014922.4|NM_033004.3|NM_033007.3	NP_055737.1|NP_127497.1|NP_127500.1	Q9C000	NALP1_HUMAN			4	2302_2303	-		Colorectal(1115;3.48e-05)	583			NACHT.		E9PE50|I6L9D9|Q9BZZ8|Q9BZZ9|Q9H5Z7|Q9H5Z8|Q9HAV8|Q9UFT4|Q9Y2E0	Frame_Shift_Ins	INS	ENST00000572272.1	37	c.1748_1749insA	CCDS42246.1																																																																																				0.535	NLRP1-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000439517.1	NM_033004		7	101						7	101	---	---	---	---	T	5462268	-	T	5462267	7	5	23	1	0	1	1	0	0	0	0	0	10471	912	32	0	2803	0	NLRP1	17	5462267	Frame_Shift_Ins	INS	-	TCGA-CH-5751-01A-11D-1576-08		5462267	75732943	34	985											
AMAC1L3	643664	broad.mit.edu	37	chr17	7385391	7385391	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagcctccgctggcaccagTgctgccagccctctgatgcc	5	7	10	19	1	1	1	0	1	1	0	2	1	2	1	7	1	5	3	7	1	0	0			TCGA-CH-5751-01A-11D-1576-08	TCGA-CH-5751-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	072e5acd-3329-42b8-9aec-d6166ac61e35	0e96e352-8a8f-4960-ad33-d64018480ff1	g.chr17:7385391T>C	ENST00000412468.2	+	2	203	c.88T>C	c.(88-90)Tgc>Cgc	p.C30R	ZBTB4_ENST00000380599.4_5'Flank|POLR2A_ENST00000322644.6_5'Flank|POLR2A_ENST00000572844.1_5'Flank|ZBTB4_ENST00000311403.4_Intron	NM_001102614.1	NP_001096084.1	P0C7Q6	S35G6_HUMAN	solute carrier family 35, member G6	30						integral component of membrane (GO:0016021)											CTGGCACCAGTGCTGCCAGCC	0.657																																						ENST00000412468.2																			0											c.(88-90)Tgc>Cgc		solute carrier family 35, member G6							49	54	52					17																	7385391		2202	4299	6501	SO:0001583	missense	643664					integral to membrane		g.chr17:7385391T>C		CCDS45603.1	17p13.1	2013-05-22	2011-08-03	2011-08-03		ENSG00000259224		"Solute carriers"	31351	protein-coding gene	gene with protein product			"transmembrane protein 21B", "acyl-malonyl condensing enzyme 1-like 3"	TMEM21B, AMAC1L3			Standard	NM_001102614		Approved		uc010cmj.1	P0C7Q6		ENST00000412468.2:c.88T>C	17.37:g.7385391T>C	ENSP00000396523:p.Cys30Arg					ZBTB4_ENST00000311403.4_Intron	p.C30R	NM_001102614.1	NP_001096084.1	P0C7Q6	AMCL3_HUMAN			2	203	+			30						Missense_Mutation	SNP	ENST00000412468.2	37	c.88T>C	CCDS45603.1	.	.	.	.	.	.	.	.	.	.	C	0.023	-1.397758	0.01175	.	.	ENSG00000181222	ENST00000412468	T	0.20881	2.04	4.21	3.24	0.37175	.	.	.	.	.	T	0.06962	0.0177	N	0.01576	-0.805	0.31793	N	0.629428	B	0.02656	0.0	B	0.01281	0.0	T	0.30707	-0.9969	9	0.15952	T	0.53	-3.2098	8.037	0.30499	0.0:0.8008:0.0:0.1992	.	30	P0C7Q6	S35G6_HUMAN	R	30	ENSP00000396523:C30R	ENSP00000396523:C30R	C	+	1	0	SLC35G6	7326115	0.994000	0.37717	0.974000	0.42286	0.582000	0.36321	0.540000	0.23191	0.373000	0.24621	-0.355000	0.07637	TGC		0.657	SLC35G6-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001102614		3	100	0	0	0	1	0	3	100					C	7385391	T	C	7385391	3	2	23	1	0	0	0	0	1	0	0	0	561	1696	59	4	94	4	AMAC1L3	17	7385391	Missense_Mutation	SNP	T	TCGA-CH-5751-01A-11D-1576-08	1923124	7385391	73809819	35	986											
SGSH	6448	broad.mit.edu	37	chr17	78187975	78187975	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaggggccgtcctaccagcAcgtccagtgggtcgtaggcc	6	6	16	13	3	0	0	0	0	0	0	3	1	2	1	5	5	2	2	5	5	2	2			TCGA-CH-5751-01A-11D-1576-08	TCGA-CH-5751-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	072e5acd-3329-42b8-9aec-d6166ac61e35	0e96e352-8a8f-4960-ad33-d64018480ff1	g.chr17:78187975A>G	ENST00000326317.6	-	5	745	c.659T>C	c.(658-660)gTg>gCg	p.V220A	SGSH_ENST00000570923.1_Missense_Mutation_p.C232R|SGSH_ENST00000534910.1_Missense_Mutation_p.V17A|SGSH_ENST00000572208.1_5'UTR	NM_000199.3	NP_000190.1	P51688	SPHM_HUMAN	N-sulfoglucosamine sulfohydrolase	220					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|proteoglycan metabolic process (GO:0006029)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)	catalytic activity (GO:0003824)|metal ion binding (GO:0046872)|N-sulfoglucosamine sulfohydrolase activity (GO:0016250)|sulfuric ester hydrolase activity (GO:0008484)	p.V220A(1)		central_nervous_system(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	10	all_neural(118;0.0952)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.0908)			TCCTACCAGCACGTCCAGTGG	0.637																																						ENST00000326317.6																			1	Substitution - Missense(1)	p.V220A(1)	prostate(1)	central_nervous_system(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	10						c.(658-660)gTg>gCg		N-sulfoglucosamine sulfohydrolase							26	22	23					17																	78187975		2198	4300	6498	SO:0001583	missense	6448				proteoglycan metabolic process	lysosome	metal ion binding|N-sulfoglucosamine sulfohydrolase activity|sulfuric ester hydrolase activity	g.chr17:78187975A>G	BC047318	CCDS11770.1	17q25.3	2011-11-08	2008-07-31			ENSG00000181523	3.10.1.1		10818	protein-coding gene	gene with protein product	"sulfamidase", "mucopolysaccharidosis type IIIA"	605270				7493035	Standard	NM_000199		Approved	HSS, MPS3A, SFMD	uc002jxz.4	P51688		ENST00000326317.6:c.659T>C	17.37:g.78187975A>G	ENSP00000314606:p.Val220Ala					SGSH_ENST00000534910.1_Missense_Mutation_p.V17A|SGSH_ENST00000570923.1_Missense_Mutation_p.C232R|SGSH_ENST00000572208.1_5'UTR	p.V220A	NM_000199.3	NP_000190.1	P51688	SPHM_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.0908)		5	745	-	all_neural(118;0.0952)		220					A8K5E2	Missense_Mutation	SNP	ENST00000326317.6	37	c.659T>C	CCDS11770.1	.	.	.	.	.	.	.	.	.	.	a	8.580	0.882166	0.17467	.	.	ENSG00000181523	ENST00000326317;ENST00000534910	D;D	0.98345	-4.88;-3.94	4.24	4.24	0.50183	Alkaline phosphatase-like, alpha/beta/alpha (1);Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.000000	0.85682	D	0.000000	D	0.98346	0.9451	L	0.60904	1.88	0.58432	D	0.999996	D;D	0.76494	0.998;0.999	D;D	0.76575	0.988;0.978	D	0.98810	1.0743	10	0.56958	D	0.05	-32.8028	13.1925	0.59719	1.0:0.0:0.0:0.0	.	220;223	P51688;Q59EB1	SPHM_HUMAN;.	A	220;17	ENSP00000314606:V220A;ENSP00000437778:V17A	ENSP00000314606:V220A	V	-	2	0	SGSH	75802570	1.000000	0.71417	0.942000	0.38095	0.108000	0.19459	6.445000	0.73456	1.782000	0.52362	0.451000	0.29950	GTG		0.637	SGSH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437695.1	NM_000199		11	21	0	0	0	1	0	11	21					G	78187975	A	G	78187975	3	3	23	1	0	0	0	0	1	0	0	0	14221	159	6	4	865	4	SGSH	17	78187975	Missense_Mutation	SNP	A	TCGA-CH-5751-01A-11D-1576-08	70802584	78187975	3007235	36	987											
AATK	9625	broad.mit.edu	37	chr17	79094618	79094618	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccccggaaaccccaggccTgagacagacctgctcagacg	10	4	10	17	2	1	3	1	1	0	3	2	5	2	4	6	2	2	1	6	2	1	0			TCGA-CH-5751-01A-11D-1576-08	TCGA-CH-5751-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	072e5acd-3329-42b8-9aec-d6166ac61e35	0e96e352-8a8f-4960-ad33-d64018480ff1	g.chr17:79094618T>C	ENST00000326724.4	-	11	3142	c.3118A>G	c.(3118-3120)Agg>Ggg	p.R1040G	AATK_ENST00000417379.1_Missense_Mutation_p.R937G	NM_001080395.2	NP_001073864.2	Q6ZMQ8	LMTK1_HUMAN	apoptosis-associated tyrosine kinase	1040					brain development (GO:0007420)|negative regulation of axon extension (GO:0030517)|neuron apoptotic process (GO:0051402)|peptidyl-tyrosine autophosphorylation (GO:0038083)|Rab protein signal transduction (GO:0032482)	axonal growth cone (GO:0044295)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)	p.R1040G(2)		endometrium(2)|kidney(2)|lung(8)|ovary(3)|prostate(1)|stomach(4)|upper_aerodigestive_tract(1)	21	all_neural(118;0.101)		BRCA - Breast invasive adenocarcinoma(99;0.0228)|OV - Ovarian serous cystadenocarcinoma(97;0.0524)			ACCCCAGGCCTGAGACAGACC	0.716																																						ENST00000326724.4																			2	Substitution - Missense(2)	p.R1040G(2)	prostate(2)	endometrium(2)|kidney(2)|lung(8)|ovary(3)|prostate(1)|stomach(4)|upper_aerodigestive_tract(1)	21						c.(3118-3120)Agg>Ggg		apoptosis-associated tyrosine kinase							5	6	6					17																	79094618		1833	4051	5884	SO:0001583	missense	9625					integral to membrane|mitochondrion|perinuclear region of cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr17:79094618T>C	AB014541	CCDS45807.1, CCDS58607.1	17q25.3	2014-06-12			ENSG00000181409	ENSG00000181409			21	protein-coding gene	gene with protein product	"lemur tyrosine kinase 1", "protein phosphatase 1, regulatory subunit 77"	605276				9734811, 10083745	Standard	NM_001080395		Approved	AATYK, KIAA0641, LMTK1, LMR1, AATYK1, PPP1R77	uc010dia.3	Q6ZMQ8	OTTHUMG00000132717	ENST00000326724.4:c.3118A>G	17.37:g.79094618T>C	ENSP00000324196:p.Arg1040Gly					AATK_ENST00000417379.1_Missense_Mutation_p.R937G	p.R1040G	NM_001080395.2	NP_001073864.2	Q6ZMQ8	LMTK1_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0228)|OV - Ovarian serous cystadenocarcinoma(97;0.0524)		11	3142	-	all_neural(118;0.101)		1040					O75136|Q6ZN31|Q86X28	Missense_Mutation	SNP	ENST00000326724.4	37	c.3118A>G	CCDS45807.1	.	.	.	.	.	.	.	.	.	.	T	7.534	0.659201	0.14645	.	.	ENSG00000181409	ENST00000326724	T	0.77489	-1.1	4.59	-4.06	0.03986	.	.	.	.	.	T	0.52370	0.1730	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.37337	-0.9710	9	0.41790	T	0.15	.	5.9093	0.19018	0.0:0.2956:0.3513:0.3531	.	1040	Q6ZMQ8	LMTK1_HUMAN	G	1040	ENSP00000324196:R1040G	ENSP00000324196:R1040G	R	-	1	2	AATK	76709213	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.406000	0.07187	-0.245000	0.09625	-0.736000	0.03550	AGG		0.716	AATK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256055.1	NM_004920		2	11	0	0	0	1	0	2	11					C	79094618	T	C	79094618	3	2	23	1	0	0	0	0	1	0	0	0	26	1579	55	4	1022	4	AATK	17	79094618	Missense_Mutation	SNP	T	TCGA-CH-5751-01A-11D-1576-08	906643	79094618	2100592	37	988											
ZNF24	7572	broad.mit.edu	37	chr18	32917272	32917272	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aaagatttgagctttgactaTacgatttcccacactgaacg	13	12	7	9	2	0	4	0	3	0	1	1	5	1	4	1	0	3	1	1	0	4	5			TCGA-CH-5751-01A-11D-1576-08	TCGA-CH-5751-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	072e5acd-3329-42b8-9aec-d6166ac61e35	0e96e352-8a8f-4960-ad33-d64018480ff1	g.chr18:32917272T>C	ENST00000261332.6	-	4	1210	c.1031A>G	c.(1030-1032)tAt>tGt	p.Y344C	ZNF24_ENST00000589881.1_3'UTR|ZNF24_ENST00000399061.3_Missense_Mutation_p.Y344C	NM_006965.2	NP_008896.2	P17028	ZNF24_HUMAN	zinc finger protein 24	344					myelination (GO:0042552)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.Y344C(1)		endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	15						GCTTTGACTATACGATTTCCC	0.358																																					Colon(42;769 913 8916 19469 46270)	ENST00000261332.6																			1	Substitution - Missense(1)	p.Y344C(1)	prostate(1)	endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	15						c.(1030-1032)tAt>tGt		zinc finger protein 24							95	97	97					18																	32917272		2203	4300	6503	SO:0001583	missense	7572				myelination|negative regulation of transcription, DNA-dependent|viral reproduction	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr18:32917272T>C	AF016052	CCDS11912.1	18q12	2013-01-09	2006-05-10		ENSG00000172466	ENSG00000172466		"-", "Zinc fingers, C2H2-type"	13032	protein-coding gene	gene with protein product		194534	"zinc finger protein 24 (KOX 17)"	ZNF191			Standard	NM_006965		Approved	ZSCAN3, Zfp191, KOX17	uc002kys.2	P17028	OTTHUMG00000132565	ENST00000261332.6:c.1031A>G	18.37:g.32917272T>C	ENSP00000261332:p.Tyr344Cys					ZNF24_ENST00000399061.3_Missense_Mutation_p.Y344C|ZNF24_ENST00000589881.1_3'UTR	p.Y344C	NM_006965.2	NP_008896.2	P17028	ZNF24_HUMAN			4	1210	-			344					O14754|Q53YE4|Q6ICR5|Q8IZN4	Missense_Mutation	SNP	ENST00000261332.6	37	c.1031A>G	CCDS11912.1	.	.	.	.	.	.	.	.	.	.	T	15.07	2.725399	0.48833	.	.	ENSG00000172466	ENST00000261332;ENST00000399061	T;T	0.19806	2.12;2.12	5.14	3.92	0.45320	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.51477	D	0.000096	T	0.23054	0.0557	N	0.10837	0.055	0.41251	D	0.986713	D	0.76494	0.999	D	0.73380	0.98	T	0.07328	-1.0778	10	0.87932	D	0	.	8.0998	0.30850	0.2963:0.0:0.0:0.7037	.	344	P17028	ZNF24_HUMAN	C	344	ENSP00000261332:Y344C;ENSP00000382015:Y344C	ENSP00000261332:Y344C	Y	-	2	0	ZNF24	31171270	0.996000	0.38824	0.990000	0.47175	0.929000	0.56500	3.288000	0.51739	2.164000	0.68074	0.533000	0.62120	TAT		0.358	ZNF24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255769.1	NM_006965		21	169	0	0	0	1	0	21	169					C	32917272	T	C	32917272	3	2	23	1	0	0	0	0	1	0	0	0	17789	1406	49	4	79	4	ZNF24	18	32917272	Missense_Mutation	SNP	T	TCGA-CH-5751-01A-11D-1576-08		32917272	45159976	38	989											
AKAP8L	26993	broad.mit.edu	37	chr19	15512380	15512380	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggtcgcgctcactcaggaCggccctcgagtcgcaggact	7	6	13	15	5	2	0	2	0	0	0	5	3	2	2	1	4	0	2	1	4	0	0			TCGA-CH-5751-01A-11D-1576-08	TCGA-CH-5751-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	072e5acd-3329-42b8-9aec-d6166ac61e35	0e96e352-8a8f-4960-ad33-d64018480ff1	g.chr19:15512380C>T	ENST00000397410.5	-	5	527	c.397G>A	c.(397-399)Gtc>Atc	p.V133I	AKAP8L_ENST00000595465.2_Missense_Mutation_p.V72I|AKAP8L_ENST00000595879.1_5'Flank	NM_014371.2	NP_055186.2	Q9ULX6	AKP8L_HUMAN	A kinase (PRKA) anchor protein 8-like	133						cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	DEAD/H-box RNA helicase binding (GO:0017151)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.V133I(2)		central_nervous_system(1)|endometrium(4)|kidney(2)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	11						TCACTCAGGACGGCCCTCGAG	0.592																																						ENST00000397410.4																			2	Substitution - Missense(2)	p.V133I(2)	prostate(2)	central_nervous_system(1)|endometrium(4)|kidney(2)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	11						c.(397-399)Gtc>Atc		A kinase (PRKA) anchor protein 8-like							39	38	38					19																	15512380		2129	4227	6356	SO:0001583	missense	26993					cytoplasm|nuclear matrix	DEAD/H-box RNA helicase binding|DNA binding|zinc ion binding	g.chr19:15512380C>T	BC000713	CCDS46005.1	19p13.12	2013-10-16			ENSG00000011243	ENSG00000011243			29857	protein-coding gene	gene with protein product	"neighbor of A kinase anchoring protein 95"	609475				10748171, 10761695	Standard	XM_005259854		Approved	NAKAP95, HAP95	uc002naw.1	Q9ULX6	OTTHUMG00000182446	ENST00000397410.5:c.397G>A	19.37:g.15512380C>T	ENSP00000380557:p.Val133Ile					AKAP8L_ENST00000595136.1_Intron|AKAP8L_ENST00000595465.1_Missense_Mutation_p.V72I	p.V133I	NM_014371.2	NP_055186.2	Q9ULX6	AKP8L_HUMAN			5	461	-			133					B4DJ74|B5BU90|O94792|Q96J58|Q9NRQ0|Q9UGM0	Missense_Mutation	SNP	ENST00000397410.5	37	c.397G>A	CCDS46005.1	.	.	.	.	.	.	.	.	.	.	C	6.217	0.408130	0.11754	.	.	ENSG00000011243	ENST00000397410	T	0.42900	0.96	4.72	0.00345	0.14055	.	0.846657	0.10204	N	0.702987	T	0.17959	0.0431	N	0.08118	0	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.06405	0.0;0.002;0.0	T	0.24764	-1.0151	10	0.18710	T	0.47	-5.4284	3.676	0.08292	0.1692:0.4035:0.0:0.4273	.	72;133;133	B4DJ74;B3KMD4;Q9ULX6	.;.;AKP8L_HUMAN	I	133	ENSP00000380557:V133I	ENSP00000380557:V133I	V	-	1	0	AKAP8L	15373380	0.190000	0.23276	0.445000	0.26908	0.388000	0.30384	0.018000	0.13422	-0.178000	0.10672	0.655000	0.94253	GTC		0.592	AKAP8L-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461301.2	NM_014371		5	23	0	0	0	1	0	5	23					T	15512380	C	T	15512380	3	4	23	1	0	0	0	0	1	0	0	0	458	536	19	1	1583	1	AKAP8L	19	15512380	Missense_Mutation	SNP	C	TCGA-CH-5751-01A-11D-1576-08		15512380	43616603	39	990											
CYP4F2	8529	broad.mit.edu	37	chr19	16003198	16003198	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaaggcaggcgtcagcatcCgacggtggcggctccacttg	7	6	16	12	4	1	0	1	0	0	0	3	2	3	1	2	6	1	3	2	6	1	1	rs140630977		TCGA-CH-5751-01A-11D-1576-08	TCGA-CH-5751-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	072e5acd-3329-42b8-9aec-d6166ac61e35	0e96e352-8a8f-4960-ad33-d64018480ff1	g.chr19:16003198C>T	ENST00000221700.6	-	5	541	c.446G>A	c.(445-447)cGg>cAg	p.R149Q	CYP4F2_ENST00000011989.7_5'UTR	NM_001082.3	NP_001073.3			cytochrome P450, family 4, subfamily F, polypeptide 2									p.R149Q(2)		NS(2)|breast(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						CGTCAGCATCCGACGGTGGCG	0.567																																						ENST00000221700.5																			2	Substitution - Missense(2)	p.R149Q(2)	prostate(1)|skin(1)	NS(2)|breast(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						c.(445-447)cGg>cAg		cytochrome P450, family 4, subfamily F, polypeptide 2		C	GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	93	94	94		446	2.7	1	19	dbSNP_134	94	0,8600		0,0,4300	no	missense	CYP4F2	NM_001082.3	43	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	149/521	16003198	1,13005	2203	4300	6503	SO:0001583	missense	8529				leukotriene metabolic process|long-chain fatty acid metabolic process|very long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding|protein binding	g.chr19:16003198C>T	U02388	CCDS12336.1	19p13.12	2013-11-11	2003-01-14		ENSG00000186115	ENSG00000186115		"Cytochrome P450s"	2645	protein-coding gene	gene with protein product		604426	"cytochrome P450, subfamily IVF, polypeptide 2"			8424651, 8026587	Standard	NM_001082		Approved		uc002nbs.1	P78329	OTTHUMG00000185995	ENST00000221700.6:c.446G>A	19.37:g.16003198C>T	ENSP00000221700:p.Arg149Gln					CYP4F2_ENST00000011989.7_5'UTR|CYP4F2_ENST00000592328.1_Missense_Mutation_p.R149Q	p.R149Q	NM_001082.3	NP_001073.3	P78329	CP4F2_HUMAN			5	541	-			149						Missense_Mutation	SNP	ENST00000221700.6	37	c.446G>A	CCDS12336.1	.	.	.	.	.	.	.	.	.	.	c	16.85	3.236912	0.58886	2.27E-4	0.0	ENSG00000186115	ENST00000221700	T	0.71579	-0.58	2.7	2.7	0.31948	.	0.000000	0.64402	U	0.000016	T	0.81484	0.4832	M	0.83852	2.665	0.80722	D	1	D	0.59767	0.986	P	0.62014	0.897	D	0.84155	0.0425	10	0.87932	D	0	.	11.1194	0.48279	0.0:1.0:0.0:0.0	.	149	P78329	CP4F2_HUMAN	Q	149	ENSP00000221700:R149Q	ENSP00000221700:R149Q	R	-	2	0	CYP4F2	15864198	0.761000	0.28439	0.981000	0.43875	0.356000	0.29392	0.974000	0.29436	1.486000	0.48398	0.289000	0.19496	CGG		0.567	CYP4F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460372.3	NM_001082		27	131	0	0	0	1	0	27	131					T	16003198	C	T	16003198	3	4	23	1	0	0	0	0	1	0	0	0	4188	652	23	2	1152	2	CYP4F2	19	16003198	Missense_Mutation	SNP	C	TCGA-CH-5751-01A-11D-1576-08	490818	16003198	43125785	40	991											
KLHL4	56062	broad.mit.edu	37	chrX	86888856	86888856	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agggacgacagtggaattacGtagccagtatgtcaactcct	12	9	11	9	2	1	0	1	0	0	0	2	3	2	2	2	2	3	2	2	2	5	3			TCGA-CH-5751-01A-11D-1576-08	TCGA-CH-5751-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	072e5acd-3329-42b8-9aec-d6166ac61e35	0e96e352-8a8f-4960-ad33-d64018480ff1	g.chrX:86888856G>A	ENST00000373119.4	+	8	1802	c.1657G>A	c.(1657-1659)Gta>Ata	p.V553I	KLHL4_ENST00000373114.4_Missense_Mutation_p.V553I	NM_019117.4	NP_061990.2	Q9C0H6	KLHL4_HUMAN	kelch-like family member 4	553						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)		p.V553I(2)		NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(29)|ovary(2)|prostate(1)|skin(1)	67						GTGGAATTACGTAGCCAGTAT	0.433																																						ENST00000373119.4																			2	Substitution - Missense(2)	p.V553I(2)	prostate(2)	NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(29)|ovary(2)|prostate(1)|skin(1)	67						c.(1657-1659)Gta>Ata		kelch-like family member 4							160	127	138					X																	86888856		2203	4300	6503	SO:0001583	missense	0					cytoplasm|microtubule cytoskeleton|nucleolus	actin binding	g.chrX:86888856G>A	AF284765	CCDS14456.1, CCDS14457.1	Xq21.3	2013-01-30	2013-01-30		ENSG00000102271	ENSG00000102271		"Kelch-like", "BTB/POZ domain containing"	6355	protein-coding gene	gene with protein product		300348	"kelch (Drosophila)-like 4", "kelch-like 4 (Drosophila)"			11401425	Standard	NM_019117		Approved	KIAA1687, DKELCHL, KHL4	uc004efa.2	Q9C0H6	OTTHUMG00000021946	ENST00000373119.4:c.1657G>A	X.37:g.86888856G>A	ENSP00000362211:p.Val553Ile					KLHL4_ENST00000373114.4_Missense_Mutation_p.V553I	p.V553I	NM_019117.4	NP_061990.2	Q9C0H6	KLHL4_HUMAN			8	1802	+			553					B2RTW2|Q9Y3J5	Missense_Mutation	SNP	ENST00000373119.4	37	c.1657G>A	CCDS14457.1	.	.	.	.	.	.	.	.	.	.	G	24.9	4.577878	0.86645	.	.	ENSG00000102271	ENST00000373119;ENST00000373114	T;T	0.78924	-1.22;-1.22	4.72	4.72	0.59763	Galactose oxidase, beta-propeller (1);	0.000000	0.85682	D	0.000000	T	0.81494	0.4834	L	0.37630	1.12	0.80722	D	1	D;D	0.71674	0.998;0.969	D;P	0.64595	0.927;0.565	T	0.81568	-0.0873	10	0.41790	T	0.15	.	15.7654	0.78123	0.0:0.0:1.0:0.0	.	553;553	Q9C0H6;Q9C0H6-2	KLHL4_HUMAN;.	I	553	ENSP00000362211:V553I;ENSP00000362206:V553I	ENSP00000362206:V553I	V	+	1	0	KLHL4	86775512	1.000000	0.71417	0.999000	0.59377	0.982000	0.71751	9.012000	0.93624	2.174000	0.68829	0.506000	0.49869	GTA		0.433	KLHL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057413.1			5	41	0	0	0	1	0	5	41					A	86888856	G	A	86888856	3	1	23	1	0	0	0	0	1	0	0	0	8391	1145	40	1	1687	1	KLHL4	23	86888856	Missense_Mutation	SNP	G	TCGA-CH-5751-01A-11D-1576-08		86888856	68381704	41	992											
AMOT	154796	broad.mit.edu	37	chrX	112058796	112058796	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgctgtggctgctgctgctgCtgttgttggtggtgatggtg	1	16	18	6	0	0	1	0	1	0	0	0	1	0	1	0	4	5	8	0	4	0	2			TCGA-CH-5751-01A-11D-1576-08	TCGA-CH-5751-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	072e5acd-3329-42b8-9aec-d6166ac61e35	0e96e352-8a8f-4960-ad33-d64018480ff1	g.chrX:112058796C>T	ENST00000524145.1	-	3	1256	c.1182G>A	c.(1180-1182)caG>caA	p.Q394Q	AMOT_ENST00000371959.3_Silent_p.Q394Q|AMOT_ENST00000371958.1_Silent_p.Q162Q|AMOT_ENST00000371962.1_Silent_p.Q162Q|AMOT_ENST00000304758.1_5'UTR			Q4VCS5	AMOT_HUMAN	angiomotin	394					actin cytoskeleton organization (GO:0030036)|blood vessel endothelial cell migration (GO:0043534)|cell migration involved in gastrulation (GO:0042074)|cell-cell junction assembly (GO:0007043)|cellular protein localization (GO:0034613)|chemotaxis (GO:0006935)|establishment of cell polarity involved in ameboidal cell migration (GO:0003365)|gastrulation with mouth forming second (GO:0001702)|hippo signaling (GO:0035329)|in utero embryonic development (GO:0001701)|negative regulation of angiogenesis (GO:0016525)|negative regulation of GTPase activity (GO:0034260)|negative regulation of vascular permeability (GO:0043116)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell size (GO:0045793)|positive regulation of embryonic development (GO:0040019)|positive regulation of stress fiber assembly (GO:0051496)|regulation of cell migration (GO:0030334)|regulation of small GTPase mediated signal transduction (GO:0051056)|vasculogenesis (GO:0001570)	actin filament (GO:0005884)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|ruffle (GO:0001726)|stress fiber (GO:0001725)|tight junction (GO:0005923)	angiostatin binding (GO:0043532)|receptor activity (GO:0004872)	p.Q394Q(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	43						gctgctgctgctgttgttggt	0.582																																						ENST00000371959.3																			1	Substitution - coding silent(1)	p.Q394Q(1)	lung(1)	breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	43						c.(1180-1182)caG>caA		angiomotin							38	34	36					X																	112058796		2203	4300	6503	SO:0001819	synonymous_variant	154796				actin cytoskeleton organization|cell-cell junction assembly|negative regulation of angiogenesis|negative regulation of vascular permeability|positive regulation of blood vessel endothelial cell migration|positive regulation of cell size|positive regulation of stress fiber assembly|regulation of cell migration	actin filament|cell surface|cytoplasm|endocytic vesicle|external side of plasma membrane|integral to membrane|lamellipodium|ruffle|stress fiber|tight junction	angiostatin binding|protein binding|receptor activity	g.chrX:112058796C>T	AB028994	CCDS14563.1, CCDS48154.1	Xq23	2006-02-08			ENSG00000126016	ENSG00000126016			17810	protein-coding gene	gene with protein product		300410				11257124, 16043488, 12406577	Standard	NM_001113490		Approved	KIAA1071	uc004epr.3	Q4VCS5	OTTHUMG00000022216	ENST00000524145.1:c.1182G>A	X.37:g.112058796C>T						AMOT_ENST00000371962.1_Silent_p.Q162Q|AMOT_ENST00000524145.1_Silent_p.Q394Q|AMOT_ENST00000304758.1_5'UTR|AMOT_ENST00000371958.1_Silent_p.Q162Q	p.Q394Q	NM_001113490.1	NP_001106962.1	Q4VCS5	AMOT_HUMAN			2	1181	-			394					Q504X5|Q9HD27|Q9UPT1	Silent	SNP	ENST00000524145.1	37	c.1182G>A	CCDS48154.1																																																																																				0.582	AMOT-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000378570.1	NM_133265		3	29	0	0	0	1	0	3	29					T	112058796	C	T	112058796	2	4	23	1	0	0	0	0	0	0	0	1	582	796	28	3		3	AMOT	23	112058796	Silent	SNP	C	TCGA-CH-5751-01A-11D-1576-08	25169940	112058796	43211764	42	993											
WASF2	10163	broad.mit.edu	37	chr1	27755320	27755320	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gccagggtgatgttggtcacGcattccagctcgcttctaac	7	11	11	12	2	2	1	1	1	1	0	4	1	3	1	2	2	2	4	2	2	1	4			TCGA-CH-5752-01A-11D-1576-08	TCGA-CH-5752-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f691ec8f-d3dd-4385-bc02-c29254d37c37	12e9a8b5-35d2-401b-aa04-653ab14c2331	g.chr1:27755320G>A	ENST00000430629.2	-	2	296	c.81C>T	c.(79-81)tgC>tgT	p.C27C	WASF2_ENST00000536657.1_Silent_p.C27C	NM_001201404.1|NM_006990.3	NP_001188333.1|NP_008921.1	Q9Y6W5	WASF2_HUMAN	WAS protein family, member 2	27					actin cytoskeleton organization (GO:0030036)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|negative regulation of stress fiber assembly (GO:0051497)|positive regulation of lamellipodium assembly (GO:0010592)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|lamellipodium (GO:0030027)|SCAR complex (GO:0031209)	actin binding (GO:0003779)|protein complex binding (GO:0032403)	p.C27C(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	18		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0446)|OV - Ovarian serous cystadenocarcinoma(117;2.46e-25)|Colorectal(126;1.7e-08)|COAD - Colon adenocarcinoma(152;2e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00139)|KIRC - Kidney renal clear cell carcinoma(1967;0.00204)|STAD - Stomach adenocarcinoma(196;0.00325)|READ - Rectum adenocarcinoma(331;0.0481)		TGTTGGTCACGCATTCCAGCT	0.577																																						ENST00000430629.2																			1	Substitution - coding silent(1)	p.C27C(1)	prostate(1)	breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	18						c.(79-81)tgC>tgT		WAS protein family, member 2							104	88	93					1																	27755320		2203	4296	6499	SO:0001819	synonymous_variant	10163				actin cytoskeleton organization|G-protein signaling, coupled to cAMP nucleotide second messenger	actin cytoskeleton|lamellipodium	actin binding	g.chr1:27755320G>A	AB026542	CCDS304.1, CCDS55582.1	1p36.11	2011-05-10			ENSG00000158195	ENSG00000158195			12733	protein-coding gene	gene with protein product		605875				10381382	Standard	NM_006990		Approved	WAVE2, SCAR2	uc001bof.2	Q9Y6W5	OTTHUMG00000003393	ENST00000430629.2:c.81C>T	1.37:g.27755320G>A						WASF2_ENST00000536657.1_Silent_p.C27C	p.C27C	NM_001201404.1|NM_006990.3	NP_001188333.1|NP_008921.1	Q9Y6W5	WASF2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0446)|OV - Ovarian serous cystadenocarcinoma(117;2.46e-25)|Colorectal(126;1.7e-08)|COAD - Colon adenocarcinoma(152;2e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00139)|KIRC - Kidney renal clear cell carcinoma(1967;0.00204)|STAD - Stomach adenocarcinoma(196;0.00325)|READ - Rectum adenocarcinoma(331;0.0481)	2	296	-		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	27					B4DZN0|O60794|Q9UDY7	Silent	SNP	ENST00000430629.2	37	c.81C>T	CCDS304.1																																																																																				0.577	WASF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009516.1	NM_006990		4	140	0	0	0	0.150653	0	4	140					A	27755320	G	A	27755320	2	1	24	1	0	0	0	0	0	0	0	1	17250	1079	38	1		1	WASF2	1	27755320	Silent	SNP	G	TCGA-CH-5752-01A-11D-1576-08		27755320	221495301	1	994											
GBP2	2634	broad.mit.edu	37	chr1	89587611	89587611	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgccctttagtgttatcaatGaggctcattgggcccggcaa	8	12	11	10	1	2	1	2	1	0	0	2	1	2	1	2	3	1	3	2	3	4	4			TCGA-CH-5752-01A-11D-1576-08	TCGA-CH-5752-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f691ec8f-d3dd-4385-bc02-c29254d37c37	12e9a8b5-35d2-401b-aa04-653ab14c2331	g.chr1:89587611G>C	ENST00000370466.3	-	2	307	c.39C>G	c.(37-39)ctC>ctG	p.L13L	GBP2_ENST00000463660.1_5'Flank	NM_004120.3	NP_004111.2	P32456	GBP2_HUMAN	guanylate binding protein 2, interferon-inducible	13	GTPase domain (Globular). {ECO:0000250}.				cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)|interferon-gamma-mediated signaling pathway (GO:0060333)|type I interferon signaling pathway (GO:0060337)	cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)	p.L13L(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(1)	20		Lung NSC(277;0.0908)		all cancers(265;0.0151)|Epithelial(280;0.0284)		TGTTATCAATGAGGCTCATTG	0.498																																						ENST00000370466.3																			1	Substitution - coding silent(1)	p.L13L(1)	prostate(1)	endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(1)	20						c.(37-39)ctC>ctG		guanylate binding protein 2, interferon-inducible							124	122	122					1																	89587611		2203	4300	6503	SO:0001819	synonymous_variant	2634				interferon-gamma-mediated signaling pathway|type I interferon-mediated signaling pathway	plasma membrane	GTP binding|GTPase activity	g.chr1:89587611G>C	BC073163	CCDS719.1	1p22.2	2008-02-05			ENSG00000162645	ENSG00000162645			4183	protein-coding gene	gene with protein product		600412				1715024	Standard	NM_004120		Approved		uc001dmz.1	P32456	OTTHUMG00000010662	ENST00000370466.3:c.39C>G	1.37:g.89587611G>C							p.L13L	NM_004120.3	NP_004111.2	P32456	GBP2_HUMAN		all cancers(265;0.0151)|Epithelial(280;0.0284)	2	307	-		Lung NSC(277;0.0908)	13					Q6GPH0|Q6IAU2|Q86TB0	Silent	SNP	ENST00000370466.3	37	c.39C>G	CCDS719.1																																																																																				0.498	GBP2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029406.2	NM_004120		5	252	0	0	0	0.184627	0	5	252					C	89587611	G	C	89587611	2	2	24	1	0	0	0	0	0	0	0	1	6274	1277	45	5		5	GBP2	1	89587611	Silent	SNP	G	TCGA-CH-5752-01A-11D-1576-08	61832291	89587611	159663010	2	995											
TXNIP	10628	broad.mit.edu	37	chr1	145440347	145440347	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caaagctgccattgtggcccGccacacttaccttgccaatg	9	9	8	15	1	0	0	0	0	0	0	0	0	0	0	5	1	4	1	5	1	3	3			TCGA-CH-5752-01A-11D-1576-08	TCGA-CH-5752-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f691ec8f-d3dd-4385-bc02-c29254d37c37	12e9a8b5-35d2-401b-aa04-653ab14c2331	g.chr1:145440347G>T	ENST00000369317.4	+	5	987	c.653G>T	c.(652-654)cGc>cTc	p.R218L	TXNIP_ENST00000475171.1_Intron	NM_006472.3	NP_006463.3	Q9H3M7	TXNIP_HUMAN	thioredoxin interacting protein	218					cell cycle (GO:0007049)|cellular response to tumor cell (GO:0071228)|innate immune response (GO:0045087)|keratinocyte differentiation (GO:0030216)|negative regulation of cell division (GO:0051782)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|protein import into nucleus (GO:0006606)|regulation of cell proliferation (GO:0042127)|response to calcium ion (GO:0051592)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to glucose (GO:0009749)|response to hydrogen peroxide (GO:0042542)|response to mechanical stimulus (GO:0009612)|response to progesterone (GO:0032570)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrial intermembrane space (GO:0005758)|nucleus (GO:0005634)	enzyme inhibitor activity (GO:0004857)|ubiquitin protein ligase binding (GO:0031625)	p.R218L(1)		breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(1)|lung(5)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	21	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					ATTGTGGCCCGCCACACTTAC	0.478																																						ENST00000369317.4																			1	Substitution - Missense(1)	p.R218L(1)	prostate(1)	breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(1)|lung(5)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	21						c.(652-654)cGc>cTc		thioredoxin interacting protein							88	87	87					1																	145440347		2203	4300	6503	SO:0001583	missense	10628				cell cycle|keratinocyte differentiation|transcription, DNA-dependent		ubiquitin protein ligase binding	g.chr1:145440347G>T	S73591	CCDS72876.1	1q11	2008-07-18			ENSG00000117289	ENSG00000265972			16952	protein-coding gene	gene with protein product	"upregulated by 1,25-dihydroxyvitamin D-3", "thioredoxin binding protein 2"	606599				8086474	Standard	NM_006472		Approved	VDUP1, EST01027, HHCPA78, THIF	uc001enn.4	Q9H3M7	OTTHUMG00000013755	ENST00000369317.4:c.653G>T	1.37:g.145440347G>T	ENSP00000358323:p.Arg218Leu					TXNIP_ENST00000475171.1_Intron	p.R218L	NM_006472.3	NP_006463.3	Q9H3M7	TXNIP_HUMAN			5	987	+	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		218					B4E3D3|Q16226|Q6PML0|Q9BXG9	Missense_Mutation	SNP	ENST00000369317.4	37	c.653G>T	CCDS913.1	.	.	.	.	.	.	.	.	.	.	G	16.36	3.100742	0.56183	.	.	ENSG00000117289	ENST00000369317;ENST00000425134	T;T	0.19394	2.15;2.15	5.69	5.69	0.88448	Immunoglobulin E-set (1);Arrestin-like, C-terminal (1);	0.129021	0.53938	D	0.000056	T	0.05777	0.0151	N	0.22421	0.69	0.40344	D	0.979063	B;B	0.33857	0.429;0.3	B;B	0.34489	0.184;0.07	T	0.20207	-1.0282	10	0.11794	T	0.64	-12.8536	10.7119	0.45988	0.0864:0.0:0.9136:0.0	.	163;218	B4E3D3;Q9H3M7	.;TXNIP_HUMAN	L	218;163	ENSP00000358323:R218L;ENSP00000396322:R163L	ENSP00000358323:R218L	R	+	2	0	TXNIP	144151704	1.000000	0.71417	0.997000	0.53966	0.996000	0.88848	4.007000	0.57093	2.696000	0.92011	0.651000	0.88453	CGC		0.478	TXNIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038547.1	NM_006472		21	118	1	0	9.95505e-16	0.624587	1.22822e-15	21	118					T	145440347	G	T	145440347	3	4	24	1	0	0	0	0	1	0	0	0	16800	1087	38	5	671	5	TXNIP	1	145440347	Missense_Mutation	SNP	G	TCGA-CH-5752-01A-11D-1576-08	55852736	145440347	103810274	3	996											
SPTA1	6708	broad.mit.edu	37	chr1	158612201	158612201	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aaactcatcctgagctttacCttcatggcctcttcattgcc	8	14	5	14	0	4	1	3	1	1	0	5	1	5	1	4	1	4	1	4	1	2	5			TCGA-CH-5752-01A-11D-1576-08	TCGA-CH-5752-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f691ec8f-d3dd-4385-bc02-c29254d37c37	12e9a8b5-35d2-401b-aa04-653ab14c2331	g.chr1:158612201C>T	ENST00000368147.4	-	33	4917	c.4737G>A	c.(4735-4737)aaG>aaA	p.K1579K		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	1579					actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)	p.K1579K(1)		NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					TGAGCTTTACCTTCATGGCCT	0.393																																						ENST00000368148.3																			1	Substitution - coding silent(1)	p.K1579K(1)	prostate(1)	NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307						c.e33+1		spectrin, alpha, erythrocytic 1 (elliptocytosis 2)							117	115	115					1																	158612201		1927	4136	6063	SO:0001630	splice_region_variant	6708				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	g.chr1:158612201C>T	M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"EF-hand domain containing"	11272	protein-coding gene	gene with protein product	"elliptocytosis 2"	182860	"spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.4737+1G>A	1.37:g.158612201C>T						SPTA1_ENST00000368147.3_Splice_Site_p.K1579_splice	p.K1579_splice	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN			33	4917	-	all_hematologic(112;0.0378)		1579					Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Splice_Site	SNP	ENST00000368147.4	37	c.4737_splice	CCDS41423.1																																																																																				0.393	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126	Silent	9	269	0	0	0	0.361761	0	9	269					T	158612201	C	T	158612201	5	4	24	1	0	0	0	0	0	0	1	0	15115	695	24	3	2602	3	SPTA1	1	158612201	Splice_Site	SNP	C	TCGA-CH-5752-01A-11D-1576-08	13171854	158612201	90638420	4	997											
ARID4B	51742	broad.mit.edu	37	chr1	235345029	235345029	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agcaacactatccacctcaaTtgtgctatcagtttcactct	11	13	4	13	0	4	0	3	0	1	0	5	0	5	0	2	0	3	3	2	0	4	4			TCGA-CH-5752-01A-11D-1576-08	TCGA-CH-5752-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f691ec8f-d3dd-4385-bc02-c29254d37c37	12e9a8b5-35d2-401b-aa04-653ab14c2331	g.chr1:235345029T>C	ENST00000264183.3	-	20	3702	c.3205A>G	c.(3205-3207)Att>Gtt	p.I1069V	ARID4B_ENST00000349213.3_Missense_Mutation_p.I983V|ARID4B_ENST00000366603.2_Missense_Mutation_p.I1069V|ARID4B_ENST00000494543.1_5'UTR	NM_016374.5	NP_057458.4	Q4LE39	ARI4B_HUMAN	AT rich interactive domain 4B (RBP1-like)	1069					histone H3-K9 trimethylation (GO:0036124)|histone H4-K20 trimethylation (GO:0034773)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.I1069V(1)		NS(1)|breast(2)|large_intestine(2)|lung(1)|ovary(2)	8	Ovarian(103;0.0473)|Breast(184;0.23)	all_cancers(173;0.000782)|Prostate(94;0.0132)|all_epithelial(177;0.0808)|Lung SC(1967;0.24)	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)			TCCACCTCAATTGTGCTATCA	0.493																																						ENST00000264183.3																			1	Substitution - Missense(1)	p.I1069V(1)	prostate(1)	NS(1)|breast(2)|large_intestine(2)|lung(1)|ovary(2)	8						c.(3205-3207)Att>Gtt		AT rich interactive domain 4B (RBP1-like)							112	92	99					1																	235345029		2203	4300	6503	SO:0001583	missense	51742				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding	g.chr1:235345029T>C	AF214114	CCDS31060.1, CCDS31061.1	1q42.1-q43	2013-02-07	2006-11-08	2004-01-30	ENSG00000054267	ENSG00000054267		"-"	15550	protein-coding gene	gene with protein product		609696	"retinoblastoma binding protein 1-like 1", "AT rich interactive domain 4B (RBP1- like)"	RBP1L1		11481388	Standard	NM_016374		Approved	BCAA, BRCAA1, SAP180	uc001hwq.3	Q4LE39	OTTHUMG00000039621	ENST00000264183.3:c.3205A>G	1.37:g.235345029T>C	ENSP00000264183:p.Ile1069Val					ARID4B_ENST00000349213.3_Missense_Mutation_p.I983V|ARID4B_ENST00000494543.1_5'UTR|ARID4B_ENST00000366603.2_Missense_Mutation_p.I1069V	p.I1069V	NM_016374.5	NP_057458.4	Q4LE39	ARI4B_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)		20	3702	-	Ovarian(103;0.0473)|Breast(184;0.23)	all_cancers(173;0.000782)|Prostate(94;0.0132)|all_epithelial(177;0.0808)|Lung SC(1967;0.24)	1069					A1L465|Q3MHV4|Q5HY99|Q5T2C2|Q5T2C3|Q5T2C4|Q5T2C5|Q5T2C6|Q6P600|Q86UX1|Q86WR4|Q9H915|Q9NYU3|Q9NZB6|Q9NZG4|Q9P2W4|Q9UF62|Q9Y6E1	Missense_Mutation	SNP	ENST00000264183.3	37	c.3205A>G	CCDS31061.1	.	.	.	.	.	.	.	.	.	.	T	14.40	2.523373	0.44866	.	.	ENSG00000054267	ENST00000391856;ENST00000349213;ENST00000366603;ENST00000264183	T;T;T	0.22945	1.93;1.96;1.96	5.17	5.17	0.71159	.	0.063541	0.64402	D	0.000005	T	0.42223	0.1193	L	0.42686	1.345	0.54753	D	0.999986	P;P;P;P	0.51791	0.948;0.826;0.899;0.734	D;P;P;P	0.67103	0.949;0.811;0.683;0.651	T	0.16928	-1.0386	10	0.44086	T	0.13	-13.3003	15.0333	0.71725	0.0:0.0:0.0:1.0	.	750;1069;983;1069	Q4LE39-4;Q4LE39-3;Q4LE39-2;Q4LE39	.;.;.;ARI4B_HUMAN	V	1069;983;1069;1069	ENSP00000264184:I983V;ENSP00000355562:I1069V;ENSP00000264183:I1069V	ENSP00000264183:I1069V	I	-	1	0	ARID4B	233411652	0.993000	0.37304	0.998000	0.56505	0.992000	0.81027	2.389000	0.44407	1.959000	0.56917	0.477000	0.44152	ATT		0.493	ARID4B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095566.3	NM_016374		32	54	0	0	0	0.729181	0	32	54					C	235345029	T	C	235345029	3	2	24	1	0	0	0	0	1	0	0	0	920	1493	52	4	753	4	ARID4B	1	235345029	Missense_Mutation	SNP	T	TCGA-CH-5752-01A-11D-1576-08	76732828	235345029	13905592	5	998											
SFRS7	6432	broad.mit.edu	37	chr2	38976716	38976716	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgacaatcataagcataaTgtcccttttcgccacactca	13	11	5	12	1	2	1	2	1	0	0	4	2	3	1	2	0	1	1	2	0	3	4			TCGA-CH-5752-01A-11D-1576-08	TCGA-CH-5752-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f691ec8f-d3dd-4385-bc02-c29254d37c37	12e9a8b5-35d2-401b-aa04-653ab14c2331	g.chr2:38976716T>A	ENST00000313117.6	-	3	578	c.341A>T	c.(340-342)cAt>cTt	p.H114L	SRSF7_ENST00000446327.2_Missense_Mutation_p.H114L|GEMIN6_ENST00000409011.1_5'Flank|SRSF7_ENST00000409276.1_Missense_Mutation_p.H114L	NM_001031684.2|NM_001195446.1	NP_001026854.1|NP_001182375.1	Q16629	SRSF7_HUMAN	serine/arginine-rich splicing factor 7	114					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.H114L(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						ATAAGCATAATGTCCCTTTTC	0.413																																						ENST00000313117.6																			1	Substitution - Missense(1)	p.H114L(1)	prostate(1)	breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						c.(340-342)cAt>cTt		serine/arginine-rich splicing factor 7							158	151	153					2																	38976716		2203	4300	6503	SO:0001583	missense	6432				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nucleoplasm	nucleotide binding|protein binding|RNA binding|zinc ion binding	g.chr2:38976716T>A	L41887	CCDS33183.1, CCDS56115.1	2p22.1	2013-02-12	2010-06-22	2010-06-22	ENSG00000115875	ENSG00000115875		"Zinc fingers, CCHC domain containing", "Serine/arginine-rich splicing factors", "RNA binding motif (RRM) containing"	10789	protein-coding gene	gene with protein product	"SR splicing factor 7"	600572	"splicing factor, arginine/serine-rich 7 (35kD)", "splicing factor, arginine/serine-rich 7, 35kDa"	SFRS7		8013463, 20516191	Standard	NM_001031684		Approved	9G8, ZCRB2, HSSG1, AAG3, RBM37, ZCCHC20	uc002rqz.3	Q16629	OTTHUMG00000102076	ENST00000313117.6:c.341A>T	2.37:g.38976716T>A	ENSP00000325905:p.His114Leu					SRSF7_ENST00000409276.1_Missense_Mutation_p.H114L|SRSF7_ENST00000446327.2_Missense_Mutation_p.H114L	p.H114L	NM_001031684.2|NM_001195446.1	NP_001026854.1|NP_001182375.1	Q16629	SRSF7_HUMAN			3	578	-			114					B4DLU6|G5E9M3|Q564D3	Missense_Mutation	SNP	ENST00000313117.6	37	c.341A>T	CCDS33183.1	.	.	.	.	.	.	.	.	.	.	T	21.1	4.095144	0.76870	.	.	ENSG00000115875	ENST00000313117;ENST00000446327;ENST00000409276	D;D;D	0.97831	-4.56;-4.56;-4.56	6.03	4.88	0.63580	Zinc finger, CCHC retroviral-type (1);Zinc finger, CCHC-type (2);	0.000000	0.85682	D	0.000000	D	0.98664	0.9552	M	0.87971	2.92	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.99116	1.0848	10	0.87932	D	0	.	11.8765	0.52550	0.0:0.0674:0.0:0.9326	.	114;114	G5E9M3;Q16629	.;SRSF7_HUMAN	L	114	ENSP00000325905:H114L;ENSP00000402264:H114L;ENSP00000386806:H114L	ENSP00000325905:H114L	H	-	2	0	SRSF7	38830220	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.720000	0.84759	1.113000	0.41760	0.533000	0.62120	CAT		0.413	SRSF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219889.2	NM_001031684		27	279	0	0	0	0.729181	0	27	279					A	38976716	T	A	38976716	3	1	24	1	0	0	0	0	1	0	0	0	14182	1464	51	5	399	5	SFRS7	2	38976716	Missense_Mutation	SNP	T	TCGA-CH-5752-01A-11D-1576-08		38976716	204222657	6	999											
CCDC85A	114800	broad.mit.edu	37	chr2	56603059	56603059	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agcagcctgaacctgtggtaCattctcttaaggtaaccaat	12	11	8	10	0	1	1	0	1	1	0	2	1	1	1	3	2	5	3	3	2	5	4			TCGA-CH-5752-01A-11D-1576-08	TCGA-CH-5752-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f691ec8f-d3dd-4385-bc02-c29254d37c37	12e9a8b5-35d2-401b-aa04-653ab14c2331	g.chr2:56603059C>A	ENST00000407595.2	+	5	2063	c.1561C>A	c.(1561-1563)Cat>Aat	p.H521N	RP11-482H16.1_ENST00000607540.1_RNA	NM_001080433.1	NP_001073902.1	Q96PX6	CC85A_HUMAN	coiled-coil domain containing 85A	521								p.H521N(1)		breast(6)|cervix(2)|endometrium(5)|kidney(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)	38			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			ACCTGTGGTACATTCTCTTAA	0.498																																						ENST00000407595.2																			1	Substitution - Missense(1)	p.H521N(1)	prostate(1)	breast(6)|cervix(2)|endometrium(5)|kidney(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)	38						c.(1561-1563)Cat>Aat		coiled-coil domain containing 85A							76	76	76					2																	56603059		2045	4194	6239	SO:0001583	missense	114800							g.chr2:56603059C>A	AB067499	CCDS46290.1	2p16.1	2006-03-29			ENSG00000055813	ENSG00000055813			29400	protein-coding gene	gene with protein product						11572484	Standard	NM_001080433		Approved	KIAA1912	uc002rzn.3	Q96PX6	OTTHUMG00000152033	ENST00000407595.2:c.1561C>A	2.37:g.56603059C>A	ENSP00000384040:p.His521Asn					RP11-482H16.1_ENST00000607540.1_RNA	p.H521N	NM_001080433.1	NP_001073902.1	Q96PX6	CC85A_HUMAN	LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)		5	2063	+			521						Missense_Mutation	SNP	ENST00000407595.2	37	c.1561C>A	CCDS46290.1	.	.	.	.	.	.	.	.	.	.	C	12.96	2.094606	0.36952	.	.	ENSG00000055813	ENST00000407595;ENST00000407862	.	.	.	5.57	5.57	0.84162	.	0.311378	0.23910	N	0.043346	T	0.40767	0.1130	N	0.14661	0.345	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.25398	-1.0133	9	0.45353	T	0.12	-28.5804	12.3807	0.55305	0.2119:0.7881:0.0:0.0	.	521	Q96PX6	CC85A_HUMAN	N	521;110	.	ENSP00000384040:H521N	H	+	1	0	CCDC85A	56456563	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.396000	0.52565	2.615000	0.88500	0.467000	0.42956	CAT		0.498	CCDC85A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324993.1			32	60	1	0	1.836e-18	0.788014	2.3256e-18	32	60					A	56603059	C	A	56603059	3	1	24	1	0	0	0	0	1	0	0	0	2859	478	17	5	1579	5	CCDC85A	2	56603059	Missense_Mutation	SNP	C	TCGA-CH-5752-01A-11D-1576-08	17626343	56603059	186596314	7	1000											
CCDC115	84317	broad.mit.edu	37	chr2	131096732	131096732	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	agctgcttgagtttctcttgGagtccccggagctggcttcg	4	13	13	11	2	1	1	0	1	1	0	4	3	2	3	2	3	3	5	2	3	0	4			TCGA-CH-5752-01A-11D-1576-08	TCGA-CH-5752-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f691ec8f-d3dd-4385-bc02-c29254d37c37	12e9a8b5-35d2-401b-aa04-653ab14c2331	g.chr2:131096732G>C	ENST00000259229.2	-	5	727	c.504C>G	c.(502-504)ctC>ctG	p.L168L	CCDC115_ENST00000409127.1_Silent_p.L163L|CCDC115_ENST00000437688.2_3'UTR	NM_032357.2	NP_115733.2	Q96NT0	CC115_HUMAN	coiled-coil domain containing 115	168						endosome (GO:0005768)|lysosome (GO:0005764)|membrane (GO:0016020)		p.L168L(1)		central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(1)	7	Colorectal(110;0.1)					GTTTCTCTTGGAGTCCCCGGA	0.612																																						ENST00000259229.2																			1	Substitution - coding silent(1)	p.L168L(1)	prostate(1)	central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(1)	7						c.(502-504)ctC>ctG		coiled-coil domain containing 115							63	59	61					2																	131096732		2203	4300	6503	SO:0001819	synonymous_variant	84317					endosome|lysosome		g.chr2:131096732G>C	AK054693	CCDS2159.1	2q21.1	2010-12-24			ENSG00000136710	ENSG00000136710			28178	protein-coding gene	gene with protein product		613734				21118521	Standard	XM_005263825		Approved	MGC12981, FLJ30131, ccp1	uc002tqy.1	Q96NT0	OTTHUMG00000131631	ENST00000259229.2:c.504C>G	2.37:g.131096732G>C						CCDC115_ENST00000409127.1_Silent_p.L163L|CCDC115_ENST00000437688.2_3'UTR	p.L168L	NM_032357.2	NP_115733.2	Q96NT0	CC115_HUMAN			5	727	-	Colorectal(110;0.1)		168					B4DJ47|Q9BR88	Silent	SNP	ENST00000259229.2	37	c.504C>G	CCDS2159.1																																																																																				0.612	CCDC115-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254524.2	NM_032357		7	62	0	0	0	0.248553	0	7	62					C	131096732	G	C	131096732	2	2	24	1	0	0	0	0	0	0	0	1	2752	1161	41	5		5	CCDC115	2	131096732	Silent	SNP	G	TCGA-CH-5752-01A-11D-1576-08	74493673	131096732	112102641	8	1001											
TLK1	9874	broad.mit.edu	37	chr2	171862701	171862701	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttagatccattccatctacAccatagctatcatcatccat	12	13	3	13	0	3	1	2	0	1	1	6	1	6	1	4	0	2	2	4	0	4	5			TCGA-CH-5752-01A-11D-1576-08	TCGA-CH-5752-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f691ec8f-d3dd-4385-bc02-c29254d37c37	12e9a8b5-35d2-401b-aa04-653ab14c2331	g.chr2:171862701A>G	ENST00000431350.2	-	18	2264	c.1860T>C	c.(1858-1860)ggT>ggC	p.G620G	TLK1_ENST00000434911.2_Silent_p.G524G|TLK1_ENST00000360843.3_Silent_p.G641G|TLK1_ENST00000442919.2_Silent_p.G572G|TLK1_ENST00000521943.1_Silent_p.G572G			Q9UKI8	TLK1_HUMAN	tousled-like kinase 1	620	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell cycle (GO:0007049)|cellular response to DNA damage stimulus (GO:0006974)|chromatin modification (GO:0016568)|intracellular protein transport (GO:0006886)|intracellular signal transduction (GO:0035556)|protein phosphorylation (GO:0006468)|regulation of chromatin assembly or disassembly (GO:0001672)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.G572G(2)|p.G620G(1)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(8)|liver(3)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	33						TTCCATCTACACCATAGCTAT	0.398																																						ENST00000442919.2																			3	Substitution - coding silent(3)	p.G572G(2)|p.G620G(1)	prostate(3)	breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(8)|liver(3)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	33						c.(1714-1716)ggT>ggC		tousled-like kinase 1							129	122	124					2																	171862701		2203	4300	6503	SO:0001819	synonymous_variant	9874				cell cycle|chromatin modification|intracellular protein transport|intracellular signal transduction|regulation of chromatin assembly or disassembly|response to DNA damage stimulus	nucleus	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr2:171862701A>G	AB004885	CCDS2241.1, CCDS46447.1, CCDS46448.1	2q31.1	2010-04-19			ENSG00000198586	ENSG00000198586			11841	protein-coding gene	gene with protein product		608438				9427565, 12660173	Standard	NM_012290		Approved	KIAA0137, PKU-BETA	uc002ugp.2	Q9UKI8	OTTHUMG00000132243	ENST00000431350.2:c.1860T>C	2.37:g.171862701A>G						TLK1_ENST00000360843.3_Silent_p.G641G|TLK1_ENST00000431350.2_Silent_p.G620G|TLK1_ENST00000521943.1_Silent_p.G572G|TLK1_ENST00000434911.2_Silent_p.G524G	p.G572G	NM_012290.4	NP_036422.3	Q9UKI8	TLK1_HUMAN			18	2331	-			620			Protein kinase.		B3KR15|B4DX87|Q14150|Q8N591|Q9NYH2|Q9Y4F6	Silent	SNP	ENST00000431350.2	37	c.1716T>C	CCDS2241.1																																																																																				0.398	TLK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255314.1	NM_012290		15	213	0	0	0	0.520397	0	15	213					G	171862701	A	G	171862701	2	3	24	1	0	0	0	0	0	0	0	1	15940	146	6	4		4	TLK1	2	171862701	Silent	SNP	A	TCGA-CH-5752-01A-11D-1576-08	40765969	171862701	71336672	9	1002											
SGOL2	151246	broad.mit.edu	37	chr2	201436396	201436396	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctgatgtcctggatggcaaaAggggtgcagaagatcccggt	10	8	15	8	1	0	3	0	1	0	2	2	4	2	4	2	5	1	2	2	5	3	0			TCGA-CH-5752-01A-11D-1576-08	TCGA-CH-5752-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f691ec8f-d3dd-4385-bc02-c29254d37c37	12e9a8b5-35d2-401b-aa04-653ab14c2331	g.chr2:201436396A>G	ENST00000357799.4	+	7	1425	c.1327A>G	c.(1327-1329)Agg>Ggg	p.R443G		NM_001160033.1|NM_001160046.1|NM_152524.5	NP_001153505.1|NP_001153518.1|NP_689737.4	Q562F6	SGOL2_HUMAN	shugoshin-like 2 (S. pombe)	443					meiotic sister chromatid cohesion, centromeric (GO:0051754)|mitotic cell cycle (GO:0000278)	chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|kinetochore (GO:0000776)|mitotic cohesin complex (GO:0030892)|nucleus (GO:0005634)		p.R443G(1)		NS(2)|breast(2)|cervix(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	46						GGATGGCAAAAGGGGTGCAGA	0.398																																						ENST00000357799.4																			1	Substitution - Missense(1)	p.R443G(1)	prostate(1)	NS(2)|breast(2)|cervix(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	46						c.(1327-1329)Agg>Ggg		shugoshin-like 2 (S. pombe)							99	98	98					2																	201436396		1845	4081	5926	SO:0001583	missense	151246				cell division|mitotic prometaphase	condensed chromosome kinetochore|cytosol|mitotic cohesin complex	protein binding	g.chr2:201436396A>G	AY094614	CCDS42796.1	2q33.2	2008-02-05			ENSG00000163535	ENSG00000163535			30812	protein-coding gene	gene with protein product		612425					Standard	NM_001160046		Approved	TRIPIN, FLJ25211	uc002uvw.2	Q562F6	OTTHUMG00000154535	ENST00000357799.4:c.1327A>G	2.37:g.201436396A>G	ENSP00000350447:p.Arg443Gly						p.R443G	NM_001160033.1|NM_001160046.1|NM_152524.5	NP_001153505.1|NP_001153518.1|NP_689737.4	Q562F6	SGOL2_HUMAN			7	1425	+			443					Q53RR9|Q53T20|Q86XY4|Q8IWK2|Q8IZK1|Q8N1Q5|Q96LQ3	Missense_Mutation	SNP	ENST00000357799.4	37	c.1327A>G	CCDS42796.1	.	.	.	.	.	.	.	.	.	.	A	0.006	-2.112115	0.00353	.	.	ENSG00000163535	ENST00000357799	T	0.46451	0.87	5.15	-0.273	0.12915	.	0.879576	0.10046	N	0.722883	T	0.09992	0.0245	N	0.00210	-1.845	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.35549	-0.9784	10	0.13853	T	0.58	1.345	8.5572	0.33489	0.3883:0.0:0.6117:0.0	.	443;443;443	B7Z7S9;Q562F6-2;Q562F6	.;.;SGOL2_HUMAN	G	443	ENSP00000350447:R443G	ENSP00000350447:R443G	R	+	1	2	SGOL2	201144641	0.000000	0.05858	0.000000	0.03702	0.108000	0.19459	0.281000	0.18810	0.047000	0.15862	0.477000	0.44152	AGG		0.398	SGOL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335834.1	NM_152524		3	263	0	0	0	0.150653	0	3	263					G	201436396	A	G	201436396	3	3	24	1	0	0	0	0	1	0	0	0	14217	63	3	4	1349	4	SGOL2	2	201436396	Missense_Mutation	SNP	A	TCGA-CH-5752-01A-11D-1576-08	29573695	201436396	41762977	10	1003											
TTLL3	26140	broad.mit.edu	37	chr3	9870957	9870957	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	acgccagccccacgatggcaCcctccacagcagtcactgcc	9	4	8	20	2	1	0	1	0	0	0	2	1	2	0	6	1	3	2	6	1	0	0			TCGA-CH-5752-01A-11D-1576-08	TCGA-CH-5752-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f691ec8f-d3dd-4385-bc02-c29254d37c37	12e9a8b5-35d2-401b-aa04-653ab14c2331	g.chr3:9870957C>A	ENST00000547186.1	+	10	1648	c.1432C>A	c.(1432-1434)Ccc>Acc	p.P478T	TTLL3_ENST00000426895.4_Missense_Mutation_p.P621T|TTLL3_ENST00000397241.1_Missense_Mutation_p.P266T|TTLL3_ENST00000466245.1_3'UTR|TTLL3_ENST00000427853.3_Missense_Mutation_p.P266T|ARPC4-TTLL3_ENST00000397256.1_Missense_Mutation_p.P539T|TTLL3_ENST00000430793.1_Missense_Mutation_p.P266T|TTLL3_ENST00000455274.1_Missense_Mutation_p.P266T|TTLL3_ENST00000383827.1_Missense_Mutation_p.P266T	NM_001025930.3	NP_001021100.3	Q9Y4R7	TTLL3_HUMAN	tubulin tyrosine ligase-like family, member 3	478	TTL. {ECO:0000255|PROSITE- ProRule:PRU00568}.				axoneme assembly (GO:0035082)|cilium assembly (GO:0042384)|protein polyglycylation (GO:0018094)	axoneme (GO:0005930)|cilium (GO:0005929)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)	protein-glycine ligase activity (GO:0070735)|protein-glycine ligase activity, initiating (GO:0070736)	p.P478T(1)		central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(2)|skin(1)	26	Medulloblastoma(99;0.227)					CACGATGGCACCCTCCACAGC	0.622																																						ENST00000383827.1																			1	Substitution - Missense(1)	p.P478T(1)	prostate(1)	central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(2)|skin(1)	26						c.(796-798)Ccc>Acc		tubulin tyrosine ligase-like family, member 3							70	66	67					3																	9870957		2203	4300	6503	SO:0001583	missense	26140				axoneme assembly|cilium assembly|protein polyglycylation	cilium axoneme|cytoplasm|microtubule	protein-glycine ligase activity, initiating|tubulin-tyrosine ligase activity	g.chr3:9870957C>A		CCDS43048.1, CCDS43048.2	3p25.3	2013-02-14			ENSG00000214021	ENSG00000214021		"Tubulin tyrosine ligase-like family"	24483	protein-coding gene	gene with protein product						11054573	Standard	NR_037162		Approved	DKFZP434B103, HOTTL	uc003btg.4	Q9Y4R7	OTTHUMG00000128439	ENST00000547186.1:c.1432C>A	3.37:g.9870957C>A	ENSP00000446659:p.Pro478Thr					TTLL3_ENST00000427853.3_Missense_Mutation_p.P266T|TTLL3_ENST00000455274.1_Missense_Mutation_p.P266T|TTLL3_ENST00000547186.1_Missense_Mutation_p.P478T|TTLL3_ENST00000397241.1_Missense_Mutation_p.P266T|TTLL3_ENST00000426895.4_Missense_Mutation_p.P621T|TTLL3_ENST00000466245.1_3'UTR|TTLL3_ENST00000430793.1_Missense_Mutation_p.P266T|ARPC4-TTLL3_ENST00000397256.1_Missense_Mutation_p.P539T	p.P266T			Q9Y4R7	TTLL3_HUMAN			4	3077	+	Medulloblastoma(99;0.227)		478			TTL.		Q4KMS8|Q6AWA3|Q6ZU95|Q8NDN8|Q96GG8|Q9H876|Q9UI99	Missense_Mutation	SNP	ENST00000547186.1	37	c.796C>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.05|12.05	1.822439|1.822439	0.32237|0.32237	.|.	.|.	ENSG00000250151;ENSG00000214021;ENSG00000214021;ENSG00000214021;ENSG00000214021;ENSG00000214021;ENSG00000214021;ENSG00000214021;ENSG00000214021|ENSG00000214021	ENST00000397256;ENST00000426895;ENST00000547186;ENST00000397241;ENST00000427853;ENST00000443148;ENST00000383827;ENST00000455274;ENST00000430793|ENST00000310252	T;T;T;T;T;T;T;T;T|.	0.10192|.	2.9;2.9;2.9;2.9;2.9;2.9;2.9;2.9;2.9|.	5.03|5.03	5.03|5.03	0.67393|0.67393	.|.	0.253590|.	0.30800|.	U|.	0.008856|.	T|T	0.38453|0.38453	0.1041|0.1041	N|N	0.10945|0.10945	0.07|0.07	0.39105|0.39105	D|D	0.961365|0.961365	P;B;B;P;D;B|.	0.69078|.	0.616;0.22;0.34;0.621;0.997;0.372|.	P;B;B;P;D;B|.	0.67900|.	0.574;0.198;0.108;0.593;0.954;0.285|.	T|T	0.34825|0.34825	-0.9813|-0.9813	10|5	0.46703|.	T|.	0.11|.	.|.	13.3149|13.3149	0.60401|0.60401	0.0:0.7119:0.2881:0.0|0.0:0.7119:0.2881:0.0	.|.	417;266;266;478;539;266|.	B4DM47;Q9Y4R7-2;Q9Y4R7-5;Q9Y4R7;E7ETI0;C9JSD3|.	.;.;.;TTLL3_HUMAN;.;.|.	T|N	539;621;478;266;266;416;266;266;266|433	ENSP00000380427:P539T;ENSP00000392549:P621T;ENSP00000446659:P478T;ENSP00000380416:P266T;ENSP00000394462:P266T;ENSP00000398097:P416T;ENSP00000373338:P266T;ENSP00000409632:P266T;ENSP00000403874:P266T|.	ENSP00000380416:P266T|.	P|T	+|+	1|2	0|0	ARPC4-TTLL3;TTLL3|TTLL3	9845957|9845957	0.772000|0.772000	0.28567|0.28567	0.961000|0.961000	0.40146|0.40146	0.389000|0.389000	0.30415|0.30415	1.188000|1.188000	0.32102|0.32102	2.343000|2.343000	0.79666|0.79666	0.563000|0.563000	0.77884|0.77884	CCC|ACC		0.622	TTLL3-203	KNOWN	basic	protein_coding	protein_coding		NM_001025930.2		59	91	1	0	1.08141e-31	0.870114	1.42685e-31	59	91					A	9870957	C	A	9870957	3	1	24	1	0	0	0	0	1	0	0	0	16725	507	18	5	1466	5	TTLL3	3	9870957	Missense_Mutation	SNP	C	TCGA-CH-5752-01A-11D-1576-08		9870957	188151473	11	1004											
CTNNB1	1499	broad.mit.edu	37	chr3	41266136	41266136	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgccactaccacagctcctTctctgagtggtaaaggcaat	10	10	9	12	0	1	1	0	1	1	0	3	1	2	1	3	2	3	3	3	2	4	3	rs121913407		TCGA-CH-5752-01A-11D-1576-08	TCGA-CH-5752-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f691ec8f-d3dd-4385-bc02-c29254d37c37	12e9a8b5-35d2-401b-aa04-653ab14c2331	g.chr3:41266136T>C	ENST00000349496.5	+	3	413	c.133T>C	c.(133-135)Tct>Cct	p.S45P	CTNNB1_ENST00000453024.1_Missense_Mutation_p.S38P|CTNNB1_ENST00000396183.3_Missense_Mutation_p.S45P|CTNNB1_ENST00000405570.1_Missense_Mutation_p.S45P|CTNNB1_ENST00000396185.3_Missense_Mutation_p.S45P	NM_001904.3	NP_001895.1	P35222	CTNB1_HUMAN	catenin (cadherin-associated protein), beta 1, 88kDa	45			Missing (in colorectal cancer). {ECO:0000269|PubMed:9065402}.|S -> F (in hepatocellular carcinoma). {ECO:0000269|PubMed:10435629}.|S -> P (in hepatocellular carcinoma). {ECO:0000269|PubMed:10435629}.		adherens junction assembly (GO:0034333)|androgen receptor signaling pathway (GO:0030521)|anterior/posterior axis specification (GO:0009948)|apoptotic process (GO:0006915)|bone resorption (GO:0045453)|branching involved in ureteric bud morphogenesis (GO:0001658)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|canonical Wnt signaling pathway involved in positive regulation of cardiac outflow tract cell proliferation (GO:0061324)|canonical Wnt signaling pathway involved in positive regulation of epithelial to mesenchymal transition (GO:0044334)|cell adhesion (GO:0007155)|cell fate specification (GO:0001708)|cell maturation (GO:0048469)|cell-matrix adhesion (GO:0007160)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to growth factor stimulus (GO:0071363)|cellular response to indole-3-methanol (GO:0071681)|cellular response to mechanical stimulus (GO:0071260)|central nervous system vasculogenesis (GO:0022009)|cytoskeletal anchoring at plasma membrane (GO:0007016)|determination of dorsal/ventral asymmetry (GO:0048262)|dorsal/ventral axis specification (GO:0009950)|ectoderm development (GO:0007398)|embryonic axis specification (GO:0000578)|embryonic digit morphogenesis (GO:0042733)|embryonic foregut morphogenesis (GO:0048617)|embryonic forelimb morphogenesis (GO:0035115)|embryonic heart tube development (GO:0035050)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal limb joint morphogenesis (GO:0036023)|endodermal cell fate commitment (GO:0001711)|endothelial tube morphogenesis (GO:0061154)|epithelial cell differentiation involved in prostate gland development (GO:0060742)|epithelial to mesenchymal transition (GO:0001837)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|fungiform papilla formation (GO:0061198)|gastrulation with mouth forming second (GO:0001702)|genitalia morphogenesis (GO:0035112)|glial cell fate determination (GO:0007403)|hair cell differentiation (GO:0035315)|hair follicle morphogenesis (GO:0031069)|hair follicle placode formation (GO:0060789)|hindbrain development (GO:0030902)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|layer formation in cerebral cortex (GO:0021819)|lens morphogenesis in camera-type eye (GO:0002089)|liver development (GO:0001889)|lung cell differentiation (GO:0060479)|lung induction (GO:0060492)|lung-associated mesenchyme development (GO:0060484)|male genitalia development (GO:0030539)|mesenchymal cell proliferation involved in lung development (GO:0060916)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|midgut development (GO:0007494)|muscle cell differentiation (GO:0042692)|myoblast differentiation (GO:0045445)|negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of heart induction by canonical Wnt signaling pathway (GO:0003136)|negative regulation of neuron death (GO:1901215)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein sumoylation (GO:0033234)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nephron tubule formation (GO:0072079)|neural plate development (GO:0001840)|neuron migration (GO:0001764)|odontogenesis of dentin-containing tooth (GO:0042475)|oocyte development (GO:0048599)|osteoclast differentiation (GO:0030316)|oviduct development (GO:0060066)|pancreas development (GO:0031016)|patterning of blood vessels (GO:0001569)|positive regulation of apoptotic process (GO:0043065)|positive regulation of branching involved in lung morphogenesis (GO:0061047)|positive regulation of determination of dorsal identity (GO:2000017)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of epithelial cell proliferation involved in prostate gland development (GO:0060769)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of fibroblast growth factor receptor signaling pathway (GO:0045743)|positive regulation of heparan sulfate proteoglycan biosynthetic process (GO:0010909)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein heterooligomerization (GO:0051291)|protein localization to cell surface (GO:0034394)|proximal/distal pattern formation (GO:0009954)|regulation of angiogenesis (GO:0045765)|regulation of calcium ion import (GO:0090279)|regulation of centriole-centriole cohesion (GO:0030997)|regulation of centromeric sister chromatid cohesion (GO:0070602)|regulation of fibroblast proliferation (GO:0048145)|regulation of myelination (GO:0031641)|regulation of nephron tubule epithelial cell differentiation (GO:0072182)|regulation of protein localization to cell surface (GO:2000008)|regulation of secondary heart field cardioblast proliferation (GO:0003266)|regulation of smooth muscle cell proliferation (GO:0048660)|regulation of T cell proliferation (GO:0042129)|renal inner medulla development (GO:0072053)|renal outer medulla development (GO:0072054)|renal vesicle formation (GO:0072033)|response to cadmium ion (GO:0046686)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|Schwann cell proliferation (GO:0014010)|single organismal cell-cell adhesion (GO:0016337)|smooth muscle cell differentiation (GO:0051145)|synapse organization (GO:0050808)|synaptic vesicle transport (GO:0048489)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tongue morphogenesis (GO:0043587)|trachea formation (GO:0060440)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	adherens junction (GO:0005912)|apical part of cell (GO:0045177)|basolateral plasma membrane (GO:0016323)|beta-catenin destruction complex (GO:0030877)|beta-catenin-TCF7L2 complex (GO:0070369)|catenin complex (GO:0016342)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cell periphery (GO:0071944)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|membrane (GO:0016020)|microvillus membrane (GO:0031528)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein-DNA complex (GO:0032993)|Scrib-APC-beta-catenin complex (GO:0034750)|synapse (GO:0045202)|tight junction (GO:0005923)|transcription factor complex (GO:0005667)|Z disc (GO:0030018)|zonula adherens (GO:0005915)	alpha-catenin binding (GO:0045294)|androgen receptor binding (GO:0050681)|cadherin binding (GO:0045296)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|estrogen receptor binding (GO:0030331)|I-SMAD binding (GO:0070411)|ion channel binding (GO:0044325)|kinase binding (GO:0019900)|nuclear hormone receptor binding (GO:0035257)|protein C-terminus binding (GO:0008022)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|R-SMAD binding (GO:0070412)|RNA polymerase II activating transcription factor binding (GO:0001102)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|SMAD binding (GO:0046332)|structural molecule activity (GO:0005198)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)	p.S45P(168)|p.A5_A80del(53)|p.S45del(50)|p.S45A(11)|p.A5_Q143del(7)|p.A5_A80>D(7)|p.Q28_H134del(5)|p.?(4)|p.W25_I140del(3)|p.T3_A126del(2)|p.D32_S47del(2)|p.P44_S45del(2)|p.M5_N141>D(2)|p.L10_N141del(2)|p.A5_Y142>D(2)|p.A5_Q143>E(1)|p.S37_G48>C(1)|p.A13_R151del(1)|p.H36_E53>L(1)|p.M14_S45del(1)|p.S45_G48del(1)|p.Q28_Q61del(1)|p.T41_N51del(1)|p.M1_A87del(1)|p.S45_L46del(1)|p.A20_N141del(1)|p.D11_Y142>H(1)|p.P44_N51del(1)|p.I35_K170del(1)|p.Y30_A97del(1)|p.T42_G48del(1)|p.S45_D58del(1)|p.V22_T102del(1)|p.A20_A80del(1)|p.V22_S71>A(1)|p.T40_L46del(1)|p.A5_T59del(1)|p.M1_V173del(1)|p.E15_I140>V(1)|p.H24_M131del(1)|p.S45E(1)|p.M8_A80del(1)|p.A5_E54del(1)|p.S45T(1)|p.A21_A80del(1)|p.P16_K133del(1)|p.V22_Y64del(1)|p.A20_S111del(1)|p.T42_K49>Q(1)|p.Y30_A80del(1)	CTNNB1/PLAG1(60)	NS(4)|adrenal_gland(103)|biliary_tract(43)|bone(21)|breast(7)|central_nervous_system(260)|cervix(9)|endometrium(293)|eye(1)|haematopoietic_and_lymphoid_tissue(60)|kidney(202)|large_intestine(269)|liver(1010)|lung(63)|oesophagus(6)|ovary(106)|pancreas(126)|parathyroid(11)|pituitary(111)|pleura(2)|prostate(31)|salivary_gland(13)|skin(103)|small_intestine(17)|soft_tissue(792)|stomach(165)|thyroid(55)|upper_aerodigestive_tract(2)|urinary_tract(8)	3893				KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294)		CACAGCTCCTTCTCTGAGTGG	0.502		15	"H, Mis, T"	PLAG1	"colorectal, cvarian,  hepatoblastoma, others, pleomorphic salivary adenoma"				Pilomatrixoma, Familial Clustering of																												Colon(6;3 56 14213 18255)	ENST00000349496.5		15		Dom	yes		3	3p22-p21.3	1499	"H, Mis, T"	"catenin (cadherin-associated protein), beta 1"			"E, M, O"	PLAG1		"colorectal, cvarian,  hepatoblastoma, others, pleomorphic salivary adenoma"	CTNNB1/PLAG1(60)	355	Substitution - Missense(181)|Deletion - In frame(149)|Complex - deletion inframe(18)|Unknown(7)	p.S45P(168)|p.A5_A80del(53)|p.S45del(50)|p.S45A(11)|p.A5_Q143del(7)|p.A5_A80>D(7)|p.Q28_H134del(5)|p.?(4)|p.W25_I140del(3)|p.T3_A126del(2)|p.D32_S47del(2)|p.P44_S45del(2)|p.M5_N141>D(2)|p.L10_N141del(2)|p.A5_Y142>D(2)|p.A5_Q143>E(1)|p.S37_G48>C(1)|p.A13_R151del(1)|p.H36_E53>L(1)|p.M14_S45del(1)|p.S45_G48del(1)|p.Q28_Q61del(1)|p.T41_N51del(1)|p.M1_A87del(1)|p.S45_L46del(1)|p.A20_N141del(1)|p.D11_Y142>H(1)|p.P44_N51del(1)|p.I35_K170del(1)|p.Y30_A97del(1)|p.T42_G48del(1)|p.S45_D58del(1)|p.V22_T102del(1)|p.A20_A80del(1)|p.V22_S71>A(1)|p.T40_L46del(1)|p.A5_T59del(1)|p.M1_V173del(1)|p.E15_I140>V(1)|p.H24_M131del(1)|p.S45E(1)|p.M8_A80del(1)|p.A5_E54del(1)|p.S45T(1)|p.A21_A80del(1)|p.P16_K133del(1)|p.V22_Y64del(1)|p.A20_S111del(1)|p.T42_K49>Q(1)|p.Y30_A80del(1)	liver(151)|kidney(53)|soft_tissue(47)|large_intestine(37)|adrenal_gland(28)|endometrium(9)|stomach(7)|skin(6)|pituitary(3)|prostate(3)|thyroid(2)|small_intestine(2)|bone(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|ovary(1)	NS(4)|adrenal_gland(103)|biliary_tract(43)|bone(21)|breast(7)|central_nervous_system(260)|cervix(9)|endometrium(293)|eye(1)|haematopoietic_and_lymphoid_tissue(60)|kidney(202)|large_intestine(269)|liver(1010)|lung(63)|oesophagus(6)|ovary(106)|pancreas(126)|parathyroid(11)|pituitary(111)|pleura(2)|prostate(31)|salivary_gland(13)|skin(103)|small_intestine(17)|soft_tissue(792)|stomach(165)|thyroid(55)|upper_aerodigestive_tract(2)|urinary_tract(8)	3893						c.(133-135)Tct>Cct		catenin (cadherin-associated protein), beta 1, 88kDa	Lithium(DB01356)						84	74	78					3																	41266136		2203	4300	6503	SO:0001583	missense	1499	Pilomatrixoma, Familial Clustering of	Familial Cancer Database	Pilomatricoma, Familial Clustering of, Epithelioma Calcificans of Malherbe	adherens junction assembly|androgen receptor signaling pathway|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway involved in negative regulation of apoptosis|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell-cell adhesion|cell-matrix adhesion|cellular component disassembly involved in apoptosis|cellular response to growth factor stimulus|cellular response to indole-3-methanol|central nervous system vasculogenesis|cytoskeletal anchoring at plasma membrane|determination of dorsal/ventral asymmetry|dorsal/ventral axis specification|ectoderm development|embryonic axis specification|embryonic foregut morphogenesis|embryonic leg joint morphogenesis|endodermal cell fate commitment|endothelial tube morphogenesis|epithelial to mesenchymal transition|gastrulation with mouth forming second|glial cell fate determination|hair follicle morphogenesis|hair follicle placode formation|hindbrain development|liver development|lung cell differentiation|lung induction|lung-associated mesenchyme development|male genitalia development|mesenchymal cell proliferation involved in lung development|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of osteoclast differentiation|negative regulation of transcription from RNA polymerase II promoter|nephron tubule formation|odontogenesis of dentine-containing tooth|oocyte development|pancreas development|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of branching involved in lung morphogenesis|positive regulation of epithelial cell proliferation involved in prostate gland development|positive regulation of fibroblast growth factor receptor signaling pathway|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of muscle cell differentiation|positive regulation of osteoblast differentiation|positive regulation of transcription from RNA polymerase II promoter|protein localization at cell surface|proximal/distal pattern formation|regulation of angiogenesis|regulation of calcium ion import|regulation of centriole-centriole cohesion|regulation of centromeric sister chromatid cohesion|regulation of fibroblast proliferation|regulation of nephron tubule epithelial cell differentiation|regulation of protein localization at cell surface|regulation of smooth muscle cell proliferation|regulation of T cell proliferation|renal inner medulla development|renal outer medulla development|renal vesicle formation|response to drug|response to estradiol stimulus|Schwann cell proliferation|smooth muscle cell differentiation|synapse organization|synaptic vesicle transport|T cell differentiation in thymus|thymus development|trachea formation	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin-TCF7L2 complex|catenin complex|cell cortex|cell-substrate adherens junction|centrosome|dendritic shaft|desmosome|fascia adherens|internal side of plasma membrane|lamellipodium|lateral plasma membrane|microvillus membrane|perinuclear region of cytoplasm|protein-DNA complex|synapse|transcription factor complex|Z disc|zonula adherens	alpha-catenin binding|androgen receptor binding|cadherin binding|estrogen receptor binding|I-SMAD binding|ion channel binding|protein binding|protein C-terminus binding|protein kinase binding|protein phosphatase binding|R-SMAD binding|RPTP-like protein binding|signal transducer activity|specific RNA polymerase II transcription factor activity|structural molecule activity|transcription coactivator activity|transcription regulatory region DNA binding	g.chr3:41266136T>C	X87838	CCDS2694.1	3p21	2013-02-15	2002-08-29		ENSG00000168036	ENSG00000168036		"Armadillo repeat containing"	2514	protein-coding gene	gene with protein product		116806	"catenin (cadherin-associated protein), beta 1 (88kD)"	CTNNB		7829088	Standard	NM_001098210		Approved	beta-catenin, armadillo	uc003ckr.2	P35222	OTTHUMG00000131393	ENST00000349496.5:c.133T>C	3.37:g.41266136T>C	ENSP00000344456:p.Ser45Pro					CTNNB1_ENST00000396185.3_Missense_Mutation_p.S45P|CTNNB1_ENST00000405570.1_Missense_Mutation_p.S45P|CTNNB1_ENST00000396183.3_Missense_Mutation_p.S45P|CTNNB1_ENST00000453024.1_Missense_Mutation_p.S38P	p.S45P	NM_001904.3	NP_001895.1	P35222	CTNB1_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294)	3	413	+			45		Missing (in colorectal cancer).|S -> F (in hepatocellular carcinoma).|S -> P (in hepatocellular carcinoma).			A8K1L7|Q8NEW9|Q8NI94|Q9H391	Missense_Mutation	SNP	ENST00000349496.5	37	c.133T>C	CCDS2694.1	.	.	.	.	.	.	.	.	.	.	T	23.6	4.440246	0.83993	.	.	ENSG00000168036	ENST00000426215;ENST00000405570;ENST00000431914;ENST00000396183;ENST00000349496;ENST00000453024;ENST00000396185;ENST00000450969;ENST00000441708	T;T;T;T;T;T;T;T;T	0.52295	0.67;0.67;0.67;0.67;0.67;0.67;0.67;0.67;0.67	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	T	0.65903	0.2736	M	0.65677	2.01	0.80722	D	1	D	0.60575	0.988	P	0.62649	0.905	T	0.69083	-0.5239	10	0.87932	D	0	-13.6823	16.3453	0.83126	0.0:0.0:0.0:1.0	.	45	P35222	CTNB1_HUMAN	P	38;45;45;45;45;38;45;45;45	ENSP00000400508:S38P;ENSP00000385604:S45P;ENSP00000412219:S45P;ENSP00000379486:S45P;ENSP00000344456:S45P;ENSP00000411226:S38P;ENSP00000379488:S45P;ENSP00000409302:S45P;ENSP00000401599:S45P	ENSP00000344456:S45P	S	+	1	0	CTNNB1	41241140	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.040000	0.89188	2.261000	0.74972	0.533000	0.62120	TCT		0.502	CTNNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254182.2	NM_001098210		5	105	0	0	0	0.184627	0	5	105					C	41266136	T	C	41266136	3	2	24	1	0	0	0	0	1	0	0	0	4016	1783	62	4	139	4	CTNNB1	3	41266136	Missense_Mutation	SNP	T	TCGA-CH-5752-01A-11D-1576-08	31395179	41266136	156756294	12	1005											
ZNF167	55888	broad.mit.edu	37	chr3	44612332	44612332	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gagcctccatactggggaaaAgccatacaaatgtagtgaat	15	8	10	8	0	0	1	0	1	0	0	1	3	1	2	3	2	4	1	3	2	7	3			TCGA-CH-5752-01A-11D-1576-08	TCGA-CH-5752-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f691ec8f-d3dd-4385-bc02-c29254d37c37	12e9a8b5-35d2-401b-aa04-653ab14c2331	g.chr3:44612332A>G	ENST00000273320.3	+	6	2159	c.1730A>G	c.(1729-1731)aAg>aGg	p.K577R	RP11-944L7.4_ENST00000457331.1_RNA|ZKSCAN7_ENST00000341840.3_Intron|RP11-944L7.5_ENST00000419137.1_Intron|ZKSCAN7_ENST00000431636.1_Intron|ZKSCAN7_ENST00000426540.1_Missense_Mutation_p.K577R	NM_018651.2	NP_061121.2	Q9P0L1	ZKSC7_HUMAN	zinc finger with KRAB and SCAN domains 7	577					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.K577R(1)									ACTGGGGAAAAGCCATACAAA	0.433																																						ENST00000273320.3																			1	Substitution - Missense(1)	p.K577R(1)	prostate(1)								c.(1729-1731)aAg>aGg		zinc finger with KRAB and SCAN domains 7							92	93	93					3																	44612332		2203	4300	6503	SO:0001583	missense	55888							g.chr3:44612332A>G	L32164, AY280798	CCDS2714.1, CCDS2715.1, CCDS74924.1	3p21.32	2013-01-09	2013-01-09	2013-01-09	ENSG00000196345	ENSG00000196345		"Zinc fingers, C2H2-type", "-", "-", "-"	12955	protein-coding gene	gene with protein product			"zinc finger protein 64", "zinc finger protein 448", "zinc finger protein 167"	ZNF64, ZNF448, ZNF167		7814019, 1505991	Standard	XM_005265323		Approved	FLJ12738, ZSCAN39	uc003cnj.3	Q9P0L1	OTTHUMG00000133094	ENST00000273320.3:c.1730A>G	3.37:g.44612332A>G	ENSP00000273320:p.Lys577Arg					ZKSCAN7_ENST00000341840.3_Intron|ZKSCAN7_ENST00000426540.1_Missense_Mutation_p.K577R|RP11-944L7.4_ENST00000457331.1_RNA|ZKSCAN7_ENST00000431636.1_Intron	p.K577R	NM_018651.2	NP_061121.2					6	2159	+								A0PJV3|A8K5H0|Q6WL09|Q96FQ2	Missense_Mutation	SNP	ENST00000273320.3	37	c.1730A>G	CCDS2715.1	.	.	.	.	.	.	.	.	.	.	.	15.63	2.890354	0.52014	.	.	ENSG00000196345	ENST00000426540;ENST00000273320;ENST00000315777	T;T	0.24908	1.83;1.83	4.21	3.06	0.35304	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.294261	0.18847	N	0.129502	T	0.15392	0.0371	N	0.16790	0.44	0.80722	D	1	B	0.18461	0.028	B	0.19148	0.024	T	0.05099	-1.0906	10	0.56958	D	0.05	-11.2975	8.4961	0.33130	0.9056:0.0:0.0944:0.0	.	577	Q9P0L1	ZN167_HUMAN	R	577;577;15	ENSP00000395524:K577R;ENSP00000273320:K577R	ENSP00000273320:K577R	K	+	2	0	ZNF167	44587336	0.264000	0.24093	0.976000	0.42696	0.811000	0.45836	1.130000	0.31393	0.688000	0.31529	0.533000	0.62120	AAG		0.433	ZKSCAN7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256752.4	NM_018651		3	254	0	0	0	0.115264	0	3	254					G	44612332	A	G	44612332	3	3	24	1	0	0	0	0	1	0	0	0	17738	72	3	4	1748	4	ZNF167	3	44612332	Missense_Mutation	SNP	A	TCGA-CH-5752-01A-11D-1576-08	3346196	44612332	153410098	13	1006											
SACM1L	22908	broad.mit.edu	37	chr3	45761023	45761023	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cattcatgttctattaatggAaaatactttgattggattct	12	18	6	5	0	3	1	1	1	2	0	3	3	3	3	0	2	1	1	0	2	5	8			TCGA-CH-5752-01A-11D-1576-08	TCGA-CH-5752-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f691ec8f-d3dd-4385-bc02-c29254d37c37	12e9a8b5-35d2-401b-aa04-653ab14c2331	g.chr3:45761023A>G	ENST00000389061.5	+	8	813	c.609A>G	c.(607-609)ggA>ggG	p.G203G	SACM1L_ENST00000541314.1_Silent_p.G142G|SACM1L_ENST00000418611.1_Silent_p.G100G	NM_014016.3	NP_054735.3	Q9NTJ5	SAC1_HUMAN	SAC1 suppressor of actin mutations 1-like (yeast)	203	SAC. {ECO:0000255|PROSITE- ProRule:PRU00183}.				phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of endoplasmic reticulum membrane (GO:0030176)	phosphatase activity (GO:0016791)|phosphatidylinositol bisphosphate phosphatase activity (GO:0034593)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphatidylinositol-4-phosphate phosphatase activity (GO:0043812)	p.G203G(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)	23				BRCA - Breast invasive adenocarcinoma(193;0.0102)|KIRC - Kidney renal clear cell carcinoma(197;0.0234)|Kidney(197;0.0277)		CTATTAATGGAAAATACTTTG	0.338																																						ENST00000389061.5																			1	Substitution - coding silent(1)	p.G203G(1)	prostate(1)	breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)	23						c.(607-609)ggA>ggG		SAC1 suppressor of actin mutations 1-like (yeast)							112	111	111					3																	45761023		2203	4300	6503	SO:0001819	synonymous_variant	22908					Golgi apparatus		g.chr3:45761023A>G	AB020658	CCDS33745.1	3p21.3	2010-03-11			ENSG00000211456	ENSG00000211456			17059	protein-coding gene	gene with protein product		606569				10048485, 11352561	Standard	NM_014016		Approved	SAC1, KIAA0851	uc003cos.2	Q9NTJ5	OTTHUMG00000156653	ENST00000389061.5:c.609A>G	3.37:g.45761023A>G						SACM1L_ENST00000541314.1_Silent_p.G142G|SACM1L_ENST00000418611.1_Silent_p.G100G	p.G203G	NM_014016.3	NP_054735.3	Q9NTJ5	SAC1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.0102)|KIRC - Kidney renal clear cell carcinoma(197;0.0234)|Kidney(197;0.0277)	8	813	+			203			SAC.		A8K527|B4DK71|O94935|Q7LA14|Q7LA22|Q96AX7|Q9NQ46|Q9NQ57	Silent	SNP	ENST00000389061.5	37	c.609A>G	CCDS33745.1																																																																																				0.338	SACM1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345065.2	NM_014016		6	77	0	0	0	0.248553	0	6	77					G	45761023	A	G	45761023	2	3	24	1	0	0	0	0	0	0	0	1	13803	233	9	4		4	SACM1L	3	45761023	Silent	SNP	A	TCGA-CH-5752-01A-11D-1576-08	1148691	45761023	152261407	14	1007											
USP19	10869	broad.mit.edu	37	chr3	49147711	49147711	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccacaggagagttccgccggCggtagaagagtacataggca	12	5	14	10	3	0	3	0	0	0	3	1	4	1	3	3	4	1	4	3	4	4	4	rs370275115		TCGA-CH-5752-01A-11D-1576-08	TCGA-CH-5752-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f691ec8f-d3dd-4385-bc02-c29254d37c37	12e9a8b5-35d2-401b-aa04-653ab14c2331	g.chr3:49147711C>A	ENST00000398888.2	-	25	3953	c.3635G>T	c.(3634-3636)cGc>cTc	p.R1212L	USP19_ENST00000453664.1_Missense_Mutation_p.R1303L|USP19_ENST00000434032.2_Missense_Mutation_p.R1313L|USP19_ENST00000398898.2_Missense_Mutation_p.R1252L|USP19_ENST00000398896.1_Missense_Mutation_p.R1020L|USP19_ENST00000417901.1_Missense_Mutation_p.R1315L|USP19_ENST00000398892.3_Missense_Mutation_p.R1252L	NM_006677.2	NP_006668.1	O94966	UBP19_HUMAN	ubiquitin specific peptidase 19	1212	USP.				ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|negative regulation of skeletal muscle tissue development (GO:0048642)|positive regulation of cell cycle process (GO:0090068)|protein deubiquitination (GO:0016579)|regulation of cellular response to hypoxia (GO:1900037)|regulation of protein stability (GO:0031647)|response to endoplasmic reticulum stress (GO:0034976)|skeletal muscle atrophy (GO:0014732)	cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)|ubiquitin-specific protease activity (GO:0004843)	p.R1300L(1)		NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(10)|lung(5)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		GTTCCGCCGGCGGTAGAAGAG	0.617																																						ENST00000453664.1																			1	Substitution - Missense(1)	p.R1300L(1)	prostate(1)	NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(10)|lung(5)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						c.(3907-3909)cGc>cTc		ubiquitin specific peptidase 19							50	55	53					3																	49147711		1994	4165	6159	SO:0001583	missense	10869				ER-associated protein catabolic process|positive regulation of cell cycle process|protein deubiquitination|regulation of protein stability|response to endoplasmic reticulum stress|skeletal muscle atrophy	endoplasmic reticulum membrane|integral to membrane	ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding	g.chr3:49147711C>A	AB020698	CCDS43090.1, CCDS56254.1, CCDS56255.1, CCDS56256.1	3p21.31	2005-10-13	2005-08-08		ENSG00000172046	ENSG00000172046		"Zinc fingers, MYND-type", "Ubiquitin-specific peptidases"	12617	protein-coding gene	gene with protein product		614471	"ubiquitin specific protease 19"			12838346	Standard	NM_001199160		Approved	KIAA0891, ZMYND9	uc011bch.2	O94966	OTTHUMG00000133611	ENST00000398888.2:c.3635G>T	3.37:g.49147711C>A	ENSP00000381863:p.Arg1212Leu					USP19_ENST00000417901.1_Missense_Mutation_p.R1315L|USP19_ENST00000398898.2_Missense_Mutation_p.R1252L|USP19_ENST00000434032.2_Missense_Mutation_p.R1313L|USP19_ENST00000398888.2_Missense_Mutation_p.R1212L|USP19_ENST00000398892.3_Missense_Mutation_p.R1252L|USP19_ENST00000398896.1_Missense_Mutation_p.R1020L	p.R1303L	NM_001199161.1|NM_001199162.1	NP_001186090.1|NP_001186091.1	O94966	UBP19_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	26	4226	-			1212					A5PKX8|A6H8U2|B4DGT3|B4DTZ0|E7EN22|E7ETS0|E9PEG8|Q3KQW4|Q641Q9|Q6NZY8|Q86XV9	Missense_Mutation	SNP	ENST00000398888.2	37	c.3908G>T	CCDS43090.1	.	.	.	.	.	.	.	.	.	.	C	28.2	4.897958	0.91962	.	.	ENSG00000172046	ENST00000398896;ENST00000398898;ENST00000417901;ENST00000453664;ENST00000398892;ENST00000398888;ENST00000434032	T;T;T;T;T;T;T	0.32023	1.47;1.47;1.47;1.47;1.47;1.47;1.47	5.67	5.67	0.87782	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (1);	0.836580	0.11019	N	0.608550	T	0.60663	0.2286	M	0.72479	2.2	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;0.997;0.999	D;D;D;D;D	0.87578	0.998;0.994;0.997;0.987;0.989	T	0.58148	-0.7687	10	0.87932	D	0	-16.1263	19.7629	0.96329	0.0:1.0:0.0:0.0	.	1313;1303;1212;1252;1020	E9PEG8;E7EN22;O94966;B5MEG5;E7ESU0	.;.;UBP19_HUMAN;.;.	L	1020;1252;1315;1303;1252;1212;1313	ENSP00000381870:R1020L;ENSP00000381872:R1252L;ENSP00000395260:R1315L;ENSP00000400090:R1303L;ENSP00000381867:R1252L;ENSP00000381863:R1212L;ENSP00000401197:R1313L	ENSP00000381863:R1212L	R	-	2	0	USP19	49122715	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.476000	0.81055	2.666000	0.90696	0.561000	0.74099	CGC		0.617	USP19-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000257721.1	NM_006677		3	103	1	0	0.115264	0.115264	0.123035	3	103					A	49147711	C	A	49147711	3	1	24	1	0	0	0	0	1	0	0	0	17047	768	27	5	329	5	USP19	3	49147711	Missense_Mutation	SNP	C	TCGA-CH-5752-01A-11D-1576-08	3386688	49147711	148874719	15	1008											
ATP6V1A	523	broad.mit.edu	37	chr3	113508598	113508598	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gctcacaatggaggttgatgGtaaggtagagtcaattatga	13	11	13	4	0	2	3	2	2	0	1	2	4	2	4	0	4	0	4	0	4	5	4			TCGA-CH-5752-01A-11D-1576-08	TCGA-CH-5752-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f691ec8f-d3dd-4385-bc02-c29254d37c37	12e9a8b5-35d2-401b-aa04-653ab14c2331	g.chr3:113508598G>T	ENST00000273398.3	+	8	1007	c.899G>T	c.(898-900)gGt>gTt	p.G300V	ATP6V1A_ENST00000538620.1_Missense_Mutation_p.G267V	NM_001690.3	NP_001681.2	P38606	VATA_HUMAN	ATPase, H+ transporting, lysosomal 70kDa, V1 subunit A	300					ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|microvillus (GO:0005902)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|proton-transporting two-sector ATPase complex (GO:0016469)|proton-transporting V-type ATPase, V1 domain (GO:0033180)	ATP binding (GO:0005524)|proton-transporting ATPase activity, rotational mechanism (GO:0046961)	p.G300V(1)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34					Alendronate(DB00630)|Etidronic acid(DB01077)|Tiludronate(DB01133)	GAGGTTGATGGTAAGGTAGAG	0.353																																						ENST00000273398.3																			1	Substitution - Missense(1)	p.G300V(1)	prostate(1)	breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						c.(898-900)gGt>gTt		ATPase, H+ transporting, lysosomal 70kDa, V1 subunit A							91	91	91					3																	113508598		2203	4300	6503	SO:0001583	missense	523				ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|integral to plasma membrane|proton-transporting V-type ATPase, V1 domain	ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism	g.chr3:113508598G>T	L09235	CCDS2976.1	3q13.31	2010-04-21	2002-08-29	2003-04-25	ENSG00000114573	ENSG00000114573	3.6.3.14	"ATPases / V-type"	851	protein-coding gene	gene with protein product		607027	"ATPase, H+ transporting, lysosomal (vacuolar proton pump), alpha polypeptide, 70kD, isoform 1"	VPP2, ATP6A1, ATP6V1A1		8463241	Standard	NM_001690		Approved	Vma1, VA68	uc003eao.3	P38606	OTTHUMG00000159295	ENST00000273398.3:c.899G>T	3.37:g.113508598G>T	ENSP00000273398:p.Gly300Val					ATP6V1A_ENST00000538620.1_Missense_Mutation_p.G267V	p.G300V	NM_001690.3	NP_001681.2	P38606	VATA_HUMAN			8	1007	+			300					B2RBR8|B7Z1R5|D3DN75|Q53YD9|Q96DY6|Q9UHY3	Missense_Mutation	SNP	ENST00000273398.3	37	c.899G>T	CCDS2976.1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.257803	0.80246	.	.	ENSG00000114573	ENST00000545842;ENST00000273398;ENST00000538620	D;D	0.89617	-2.54;-1.75	5.73	4.86	0.63082	ATPase, F1/V1/A1 complex, alpha/beta subunit, nucleotide-binding domain (1);	0.046405	0.85682	D	0.000000	D	0.95822	0.8640	H	0.94658	3.565	0.80722	D	1	D	0.76494	0.999	D	0.79108	0.992	D	0.96750	0.9553	10	0.87932	D	0	-17.8735	14.1382	0.65300	0.0725:0.0:0.9275:0.0	.	300	P38606	VATA_HUMAN	V	17;300;267	ENSP00000273398:G300V;ENSP00000439874:G267V	ENSP00000273398:G300V	G	+	2	0	ATP6V1A	114991288	1.000000	0.71417	0.998000	0.56505	0.995000	0.86356	9.149000	0.94659	1.428000	0.47296	0.557000	0.71058	GGT		0.353	ATP6V1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354457.1	NM_001690		51	103	1	0	8.04919e-23	0.870114	1.03334e-22	51	103					T	113508598	G	T	113508598	3	4	24	1	0	0	0	0	1	0	0	0	1177	1261	44	5	925	5	ATP6V1A	3	113508598	Missense_Mutation	SNP	G	TCGA-CH-5752-01A-11D-1576-08	64360887	113508598	84513832	16	1009											
COL6A5	256076	broad.mit.edu	37	chr3	130159274	130159274	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacagtaaaaacagagtttgAtttcatcacttatgacaacc	16	12	5	8	0	2	3	2	2	0	1	2	3	2	3	1	0	3	2	1	0	6	5			TCGA-CH-5752-01A-11D-1576-08	TCGA-CH-5752-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f691ec8f-d3dd-4385-bc02-c29254d37c37	12e9a8b5-35d2-401b-aa04-653ab14c2331	g.chr3:130159274A>T	ENST00000432398.2	+	35	6586	c.6092A>T	c.(6091-6093)gAt>gTt	p.D2031V	COL6A5_ENST00000265379.6_Missense_Mutation_p.D2031V	NM_153264.5	NP_694996.5	A8TX70	CO6A5_HUMAN	collagen, type VI, alpha 5	2031	Nonhelical region.|VWFA 9. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)		p.D70V(1)|p.D2031V(1)		endometrium(6)|kidney(4)|large_intestine(8)|lung(19)|pancreas(2)|prostate(3)|stomach(1)|urinary_tract(1)	44						ACAGAGTTTGATTTCATCACT	0.423																																						ENST00000265379.6																			2	Substitution - Missense(2)	p.D70V(1)|p.D2031V(1)	prostate(2)	endometrium(6)|kidney(4)|large_intestine(8)|lung(19)|pancreas(2)|prostate(3)|stomach(1)|urinary_tract(1)	44						c.(6091-6093)gAt>gTt		collagen, type VI, alpha 5							95	90	92					3																	130159274		1888	4107	5995	SO:0001583	missense	256076				axon guidance|cell adhesion	collagen		g.chr3:130159274A>T	AK093199		3q21.3	2013-01-16	2010-05-24	2010-05-24	ENSG00000172752	ENSG00000172752		"Collagens"	26674	protein-coding gene	gene with protein product	"von Willebrand factor A domain containing 4"	611916	"collagen, type XXIX, alpha 1"	COL29A1		17850181	Standard	NM_153264		Approved	FLJ35880, VWA4	uc010htk.2	A8TX70	OTTHUMG00000159712	ENST00000432398.2:c.6092A>T	3.37:g.130159274A>T	ENSP00000390895:p.Asp2031Val					COL6A5_ENST00000432398.2_Missense_Mutation_p.D2031V	p.D2031V			A8TX70	CO6A5_HUMAN			35	6586	+			2031			Nonhelical region.|VWFA 9.		A9J6L2|A9J6L4|A9J6L6|A9J6L7|A9J6M0|A9J6M1|A9J6M2|B5MEA7|Q6ZW26|Q8NA36	Missense_Mutation	SNP	ENST00000432398.2	37	c.6092A>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	3.217|3.217	-0.160309|-0.160309	0.06502|0.06502	.|.	.|.	ENSG00000172752|ENSG00000172752	ENST00000432398;ENST00000265379|ENST00000512836	T;T|.	0.16457|.	2.34;2.34|.	5.76|5.76	-3.64|-3.64	0.04515|0.04515	von Willebrand factor, type A (3);|.	1.257190|.	0.05679|.	N|.	0.590065|.	T|.	0.32071|.	0.0817|.	L|L	0.47190|0.47190	1.495|1.495	0.24250|0.24250	N|N	0.995324|0.995324	B;B|.	0.30068|.	0.267;0.225|.	B;B|.	0.27380|.	0.079;0.047|.	T|.	0.36986|.	-0.9725|.	10|.	0.28530|.	T|.	0.3|.	.|.	3.0106|3.0106	0.06043|0.06043	0.3959:0.3673:0.1296:0.1072|0.3959:0.3673:0.1296:0.1072	.|.	2031;2031|.	A8TX70;A8TX70-2|.	CO6A5_HUMAN;.|.	V|C	2031|282	ENSP00000390895:D2031V;ENSP00000265379:D2031V|.	ENSP00000265379:D2031V|.	D|X	+|+	2|3	0|0	COL6A5|COL6A5	131641964|131641964	0.029000|0.029000	0.19370|0.19370	0.010000|0.010000	0.14722|0.14722	0.293000|0.293000	0.27360|0.27360	0.282000|0.282000	0.18829|0.18829	-0.443000|-0.443000	0.07180|0.07180	-0.313000|-0.313000	0.08912|0.08912	GAT|TGA		0.423	COL6A5-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_153264		45	100	0	0	0	0.859065	0	45	100					T	130159274	A	T	130159274	3	4	24	1	0	0	0	0	1	0	0	0	3702	333	12	5	6226	5	COL6A5	3	130159274	Missense_Mutation	SNP	A	TCGA-CH-5752-01A-11D-1576-08	16650676	130159274	67863156	17	1010											
TBL1XR1	79718	broad.mit.edu	37	chr3	176755961	176755961	+	Splice_Site	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttgatagcatttacttcattCtaaaaataatagtaaatatt	17	17	3	4	0	2	1	1	1	1	0	2	1	2	1	0	0	2	2	0	0	10	12			TCGA-CH-5752-01A-11D-1576-08	TCGA-CH-5752-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f691ec8f-d3dd-4385-bc02-c29254d37c37	12e9a8b5-35d2-401b-aa04-653ab14c2331	g.chr3:176755961C>G	ENST00000430069.1	-	12	1307		c.e12-1		TBL1XR1_ENST00000457928.2_Splice_Site			Q9BZK7	TBL1R_HUMAN	transducin (beta)-like 1 X-linked receptor 1						canonical Wnt signaling pathway (GO:0060070)|cellular lipid metabolic process (GO:0044255)|chromatin modification (GO:0016568)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)|transcriptional repressor complex (GO:0017053)	beta-catenin binding (GO:0008013)|histone binding (GO:0042393)|protein N-terminus binding (GO:0047485)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)	p.?(1)		breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(7)|liver(1)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	31	all_cancers(143;1.44e-17)|Ovarian(172;0.00163)|Breast(254;0.214)	Acute lymphoblastic leukemia(1;0.00599)|all_hematologic(1;0.0632)|Prostate(884;0.215)	OV - Ovarian serous cystadenocarcinoma(80;9.83e-31)			TTACTTCATTCTAAAAATAAT	0.323																																						ENST00000430069.1																			1	Unknown(1)	p.?(1)	prostate(1)	breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(7)|liver(1)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	31						c.e12-1		transducin (beta)-like 1 X-linked receptor 1							57	55	56					3																	176755961		1821	4082	5903	SO:0001630	splice_region_variant	79718				canonical Wnt receptor signaling pathway|cellular lipid metabolic process|chromatin modification|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|proteasomal ubiquitin-dependent protein catabolic process|transcription, DNA-dependent	spindle microtubule|transcriptional repressor complex	beta-catenin binding|histone binding|protein N-terminus binding|transcription corepressor activity|transcription regulatory region DNA binding	g.chr3:176755961C>G	AK022956	CCDS46961.1	3q26.33	2013-01-10	2008-01-17		ENSG00000177565	ENSG00000177565		"WD repeat domain containing"	29529	protein-coding gene	gene with protein product		608628	"transducin (beta)-like 1X-linked receptor 1"			11063877, 11931768	Standard	NM_024665		Approved	IRA1, FLJ12894, TBLR1, C21, DC42	uc003fix.4	Q9BZK7	OTTHUMG00000157140	ENST00000430069.1:c.1048-1G>C	3.37:g.176755961C>G						TBL1XR1_ENST00000457928.2_Splice_Site				Q9BZK7	TBL1R_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;9.83e-31)		12	1307	-	all_cancers(143;1.44e-17)|Ovarian(172;0.00163)|Breast(254;0.214)	Acute lymphoblastic leukemia(1;0.00599)|all_hematologic(1;0.0632)|Prostate(884;0.215)						D3DNQ9|Q14DC3|Q9H2I1|Q9H9A1	Splice_Site	SNP	ENST00000430069.1	37		CCDS46961.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.160938	0.78226	.	.	ENSG00000177565	ENST00000430069;ENST00000457928;ENST00000536758	.	.	.	5.48	4.6	0.57074	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.778	0.63066	0.0:0.9246:0.0:0.0754	.	.	.	.	.	-1	.	.	.	-	.	.	TBL1XR1	178238655	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	6.055000	0.71103	2.581000	0.87130	0.585000	0.79938	.		0.323	TBL1XR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347587.3	NM_024665	Intron	4	57	0	0	0	0.184627	0	4	57					G	176755961	C	G	176755961	5	3	24	1	0	0	0	0	0	0	1	0	15637	927	32	5	517	5	TBL1XR1	3	176755961	Splice_Site	SNP	C	TCGA-CH-5752-01A-11D-1576-08	46596687	176755961	21266469	18	1011											
EHHADH	1962	broad.mit.edu	37	chr3	184910384	184910384	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gatgggtttttctataccgtGataggaatttggaaagccag	11	13	12	5	1	1	1	0	1	1	0	1	4	1	3	2	3	2	1	2	3	5	6			TCGA-CH-5752-01A-11D-1576-08	TCGA-CH-5752-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f691ec8f-d3dd-4385-bc02-c29254d37c37	12e9a8b5-35d2-401b-aa04-653ab14c2331	g.chr3:184910384G>A	ENST00000231887.3	-	7	1877	c.1802C>T	c.(1801-1803)tCa>tTa	p.S601L	EHHADH-AS1_ENST00000417720.1_RNA|EHHADH_ENST00000456310.1_Missense_Mutation_p.S505L	NM_001166415.1|NM_001966.3	NP_001159887.1|NP_001957.2	Q08426	ECHP_HUMAN	enoyl-CoA, hydratase/3-hydroxyacyl CoA dehydrogenase	601					fatty acid beta-oxidation (GO:0006635)|internal protein amino acid acetylation (GO:0006475)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|peroxisome (GO:0005777)	3-hydroxyacyl-CoA dehydrogenase activity (GO:0003857)|coenzyme binding (GO:0050662)|dodecenoyl-CoA delta-isomerase activity (GO:0004165)|enoyl-CoA hydratase activity (GO:0004300)|enzyme binding (GO:0019899)|receptor binding (GO:0005102)	p.S601L(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|prostate(2)|skin(3)	24	all_cancers(143;4.04e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		Epithelial(37;1.98e-32)|OV - Ovarian serous cystadenocarcinoma(80;5.55e-21)			TCTATACCGTGATAGGAATTT	0.428																																						ENST00000231887.3																			1	Substitution - Missense(1)	p.S601L(1)	prostate(1)	breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|prostate(2)|skin(3)	24						c.(1801-1803)tCa>tTa		enoyl-CoA, hydratase/3-hydroxyacyl CoA dehydrogenase	NADH(DB00157)						105	97	100					3																	184910384		2203	4300	6503	SO:0001583	missense	1962					peroxisome	3-hydroxyacyl-CoA dehydrogenase activity|coenzyme binding|dodecenoyl-CoA delta-isomerase activity|enoyl-CoA hydratase activity	g.chr3:184910384G>A	L07077	CCDS33901.1, CCDS54694.1	3q26.3-q28	2012-07-13	2010-04-30		ENSG00000113790	ENSG00000113790	4.2.1.17, 1.1.1.35, 5.3.3.8		3247	protein-coding gene	gene with protein product		607037	"enoyl-Coenzyme A, hydratase/3-hydroxyacyl Coenzyme A dehydrogenase"	ECHD		8188243	Standard	NM_001966		Approved		uc003fpf.3	Q08426	OTTHUMG00000156698	ENST00000231887.3:c.1802C>T	3.37:g.184910384G>A	ENSP00000231887:p.Ser601Leu					EHHADH_ENST00000456310.1_Missense_Mutation_p.S505L	p.S601L	NM_001166415.1|NM_001966.3	NP_001159887.1|NP_001957.2	Q08426	ECHP_HUMAN	Epithelial(37;1.98e-32)|OV - Ovarian serous cystadenocarcinoma(80;5.55e-21)		7	1877	-	all_cancers(143;4.04e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		601					A8K6Y3|B4DWG3|D3DNU0|Q58EZ5	Missense_Mutation	SNP	ENST00000231887.3	37	c.1802C>T	CCDS33901.1	.	.	.	.	.	.	.	.	.	.	G	8.504	0.864954	0.17250	.	.	ENSG00000113790	ENST00000231887;ENST00000456310	T;T	0.75477	-0.53;-0.94	5.91	5.03	0.67393	.	0.594442	0.17849	N	0.159928	T	0.55986	0.1955	N	0.14661	0.345	0.80722	D	1	B	0.30236	0.274	B	0.22386	0.039	T	0.53641	-0.8410	10	0.30078	T	0.28	-3.6632	12.1049	0.53807	0.0658:0.1208:0.8135:0.0	.	601	Q08426	ECHP_HUMAN	L	601;505	ENSP00000231887:S601L;ENSP00000387746:S505L	ENSP00000231887:S601L	S	-	2	0	EHHADH	186393078	0.994000	0.37717	0.087000	0.20705	0.433000	0.31745	3.108000	0.50337	1.503000	0.48686	0.655000	0.94253	TCA		0.428	EHHADH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345326.1			34	227	0	0	0	0.760397	0	34	227					A	184910384	G	A	184910384	3	1	24	1	0	0	0	0	1	0	0	0	4982	1294	45	3	373	3	EHHADH	3	184910384	Missense_Mutation	SNP	G	TCGA-CH-5752-01A-11D-1576-08	8154423	184910384	13112046	19	1012											
CRMP1	1400	broad.mit.edu	37	chr4	5837779	5837779	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgcattggtgctggtgacagCgacaaactggttctcatcca	9	11	11	10	1	1	1	1	1	1	0	3	2	2	1	1	3	4	3	1	3	1	2			TCGA-CH-5752-01A-11D-1576-08	TCGA-CH-5752-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f691ec8f-d3dd-4385-bc02-c29254d37c37	12e9a8b5-35d2-401b-aa04-653ab14c2331	g.chr4:5837779C>T	ENST00000397890.2	-	11	1358	c.1144G>A	c.(1144-1146)Gct>Act	p.A382T	CRMP1_ENST00000324989.7_Missense_Mutation_p.A496T|CRMP1_ENST00000512574.1_Missense_Mutation_p.A380T|CRMP1_ENST00000511535.1_5'UTR	NM_001313.3	NP_001304.1	Q14194	DPYL1_HUMAN	collapsin response mediator protein 1	382					axon guidance (GO:0007411)|nervous system development (GO:0007399)|nucleobase-containing compound metabolic process (GO:0006139)|pyrimidine nucleobase catabolic process (GO:0006208)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides (GO:0016812)	p.A496T(1)		NS(1)|cervix(2)|endometrium(4)|large_intestine(10)|lung(11)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	36				Colorectal(103;0.0721)		CTGGTGACAGCGACAAACTGG	0.567																																						ENST00000324989.7																			1	Substitution - Missense(1)	p.A496T(1)	prostate(1)	NS(1)|cervix(2)|endometrium(4)|large_intestine(10)|lung(11)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	36						c.(1486-1488)Gct>Act		collapsin response mediator protein 1							122	110	114					4																	5837779		2203	4300	6503	SO:0001583	missense	1400				axon guidance|pyrimidine base catabolic process	cytosol|microtubule organizing center|spindle	dihydropyrimidinase activity|protein binding	g.chr4:5837779C>T	D78012	CCDS33950.1, CCDS43207.1, CCDS75102.1	4p16.1	2008-05-15			ENSG00000072832	ENSG00000072832			2365	protein-coding gene	gene with protein product		602462				8973361	Standard	XM_005247940		Approved	DRP-1, DPYSL1	uc003gis.3	Q14194	OTTHUMG00000125489	ENST00000397890.2:c.1144G>A	4.37:g.5837779C>T	ENSP00000380987:p.Ala382Thr					CRMP1_ENST00000511535.1_5'UTR|CRMP1_ENST00000512574.1_Missense_Mutation_p.A380T|CRMP1_ENST00000397890.2_Missense_Mutation_p.A382T	p.A496T	NM_001014809.1	NP_001014809.1	Q14194	DPYL1_HUMAN		Colorectal(103;0.0721)	11	1574	-			382					A0EJG6|Q13024|Q4W5F1|Q96TC8	Missense_Mutation	SNP	ENST00000397890.2	37	c.1486G>A	CCDS43207.1	.	.	.	.	.	.	.	.	.	.	C	24.8	4.572075	0.86542	.	.	ENSG00000072832	ENST00000324989;ENST00000397890;ENST00000534845;ENST00000512574	D;D;D	0.90261	-2.64;-2.64;-2.64	4.22	3.38	0.38709	Amidohydrolase 1 (1);Metal-dependent hydrolase, composite domain (1);	0.000000	0.85682	D	0.000000	D	0.94032	0.8088	M	0.86420	2.815	0.80722	D	1	D;D;D;P	0.67145	0.986;0.996;0.985;0.939	P;P;P;P	0.57101	0.769;0.813;0.769;0.596	D	0.94293	0.7530	10	0.87932	D	0	-10.5965	11.5451	0.50688	0.0:0.9117:0.0:0.0883	.	496;380;382;319	A0EJG6;E9PD68;Q14194;B3KT07	.;.;DPYL1_HUMAN;.	T	496;382;382;380	ENSP00000321606:A496T;ENSP00000380987:A382T;ENSP00000425742:A380T	ENSP00000321606:A496T	A	-	1	0	CRMP1	5888680	1.000000	0.71417	0.265000	0.24526	0.935000	0.57460	5.607000	0.67648	1.131000	0.42111	0.508000	0.49915	GCT		0.567	CRMP1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358871.1	NM_001313		77	143	0	0	0	0.870114	0	77	143					T	5837779	C	T	5837779	3	4	24	1	0	0	0	0	1	0	0	0	3890	768	27	1	590	1	CRMP1	4	5837779	Missense_Mutation	SNP	C	TCGA-CH-5752-01A-11D-1576-08		5837779	185316497	20	1013											
USP38	84640	broad.mit.edu	37	chr4	144133502	144133502	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcacctcggatattctttgAggcttccagacctccatggt	7	12	9	13	2	1	2	0	1	1	1	4	3	3	3	4	3	0	2	4	3	1	4			TCGA-CH-5752-01A-11D-1576-08	TCGA-CH-5752-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f691ec8f-d3dd-4385-bc02-c29254d37c37	12e9a8b5-35d2-401b-aa04-653ab14c2331	g.chr4:144133502A>G	ENST00000307017.4	+	8	2035	c.1529A>G	c.(1528-1530)gAg>gGg	p.E510G	USP38_ENST00000510377.1_Missense_Mutation_p.E510G	NM_032557.5	NP_115946.2	Q8NB14	UBP38_HUMAN	ubiquitin specific peptidase 38	510	USP.				protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitin-specific protease activity (GO:0004843)	p.E510G(2)		breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(3)	33	all_hematologic(180;0.158)					ATATTCTTTGAGGCTTCCAGA	0.383																																						ENST00000307017.4																			2	Substitution - Missense(2)	p.E510G(2)	prostate(2)	breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(3)	33						c.(1528-1530)gAg>gGg		ubiquitin specific peptidase 38							110	108	108					4																	144133502		2203	4300	6503	SO:0001583	missense	84640				ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr4:144133502A>G	AF211481	CCDS3758.1	4q31.1	2008-02-05	2005-08-08		ENSG00000170185	ENSG00000170185		"Ubiquitin-specific peptidases"	20067	protein-coding gene	gene with protein product			"ubiquitin specific protease 38"			12838346	Standard	NM_032557		Approved	KIAA1891, HP43.8KD	uc003ijb.3	Q8NB14	OTTHUMG00000161420	ENST00000307017.4:c.1529A>G	4.37:g.144133502A>G	ENSP00000303434:p.Glu510Gly					USP38_ENST00000510377.1_Missense_Mutation_p.E510G	p.E510G	NM_032557.5	NP_115946.2	Q8NB14	UBP38_HUMAN			8	2035	+	all_hematologic(180;0.158)		510					B3KX93|Q3ZCV1|Q8NDF5|Q96DK6|Q96PZ6|Q9BY55	Missense_Mutation	SNP	ENST00000307017.4	37	c.1529A>G	CCDS3758.1	.	.	.	.	.	.	.	.	.	.	A	19.42	3.824903	0.71143	.	.	ENSG00000170185	ENST00000510377;ENST00000307017	T;T	0.33216	1.42;1.42	5.25	4.04	0.47022	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.177179	0.48767	D	0.000161	T	0.30293	0.0760	L	0.41492	1.28	0.54753	D	0.999989	B;P	0.42296	0.387;0.775	B;P	0.45660	0.388;0.489	T	0.01951	-1.1241	10	0.31617	T	0.26	-9.7254	11.6978	0.51553	0.8672:0.0:0.0:0.1328	.	510;510	Q8NB14;Q3ZCV1	UBP38_HUMAN;.	G	510	ENSP00000427647:E510G;ENSP00000303434:E510G	ENSP00000303434:E510G	E	+	2	0	USP38	144352952	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.226000	0.95229	0.919000	0.36945	0.529000	0.55759	GAG		0.383	USP38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364869.1	NM_032557		3	232	0	0	0	0.115264	0	3	232					G	144133502	A	G	144133502	3	3	24	1	0	0	0	0	1	0	0	0	17066	304	11	4	1559	4	USP38	4	144133502	Missense_Mutation	SNP	A	TCGA-CH-5752-01A-11D-1576-08	138295723	144133502	47020774	21	1014											
TAS2R1	50834	broad.mit.edu	37	chr5	9629679	9629679	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttgggagaaaaatttccttaGgaagtatgggaccataaacc	15	10	10	6	0	0	1	0	0	0	1	1	4	1	3	3	3	1	1	3	3	7	5			TCGA-CH-5752-01A-11D-1576-08	TCGA-CH-5752-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f691ec8f-d3dd-4385-bc02-c29254d37c37	12e9a8b5-35d2-401b-aa04-653ab14c2331	g.chr5:9629679G>A	ENST00000382492.2	-	1	784	c.466C>T	c.(466-468)Cta>Tta	p.L156L	CTD-2001E22.1_ENST00000504182.2_RNA	NM_019599.2	NP_062545.1	Q9NYW7	TA2R1_HUMAN	taste receptor, type 2, member 1	156					chemosensory behavior (GO:0007635)|detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|G-protein coupled receptor signaling pathway (GO:0007186)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)|taste receptor activity (GO:0008527)	p.L156L(1)		breast(5)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(19)|ovary(3)|prostate(1)|skin(1)|stomach(1)	39						AATTTCCTTAGGAAGTATGGG	0.393																																						ENST00000382492.2																			1	Substitution - coding silent(1)	p.L156L(1)	prostate(1)	breast(5)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(19)|ovary(3)|prostate(1)|skin(1)|stomach(1)	39						c.(466-468)Cta>Tta		taste receptor, type 2, member 1							72	80	77					5																	9629679		2203	4300	6503	SO:0001819	synonymous_variant	50834				chemosensory behavior|sensory perception of taste	integral to membrane	taste receptor activity	g.chr5:9629679G>A	AF227129	CCDS3876.1	5p15	2012-08-22			ENSG00000169777	ENSG00000169777		"Taste receptors / Type 2", "GPCR / Unclassified : Taste receptors"	14909	protein-coding gene	gene with protein product		604796				10761934, 10766242	Standard	NM_019599		Approved	T2R1, TRB7	uc003jem.1	Q9NYW7	OTTHUMG00000090500	ENST00000382492.2:c.466C>T	5.37:g.9629679G>A						CTD-2001E22.1_ENST00000504182.2_RNA	p.L156L	NM_019599.2	NP_062545.1	Q9NYW7	TA2R1_HUMAN			1	784	-			156					Q646G8	Silent	SNP	ENST00000382492.2	37	c.466C>T	CCDS3876.1																																																																																				0.393	TAS2R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206988.2			8	151	0	0	0	0.307466	0	8	151					A	9629679	G	A	9629679	2	1	24	1	0	0	0	0	0	0	0	1	15562	991	35	3		3	TAS2R1	5	9629679	Silent	SNP	G	TCGA-CH-5752-01A-11D-1576-08		9629679	171285581	22	1015											
MSH3	4437	broad.mit.edu	37	chr5	79961132	79961132	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atgatatcagtcttctacacGcaaagaatgcagtttcttct	12	14	6	9	1	5	2	1	1	4	1	5	2	5	2	0	0	2	3	0	0	4	5	rs372073889		TCGA-CH-5752-01A-11D-1576-08	TCGA-CH-5752-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f691ec8f-d3dd-4385-bc02-c29254d37c37	12e9a8b5-35d2-401b-aa04-653ab14c2331	g.chr5:79961132G>A	ENST00000265081.6	+	3	609	c.529G>A	c.(529-531)Gca>Aca	p.A177T		NM_002439.4	NP_002430.3	P20585	MSH3_HUMAN	mutS homolog 3	177	Interaction with EXO1.				ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)|maintenance of DNA repeat elements (GO:0043570)|meiotic mismatch repair (GO:0000710)|mismatch repair (GO:0006298)|negative regulation of DNA recombination (GO:0045910)|positive regulation of helicase activity (GO:0051096)|reciprocal meiotic recombination (GO:0007131)|somatic recombination of immunoglobulin gene segments (GO:0016447)	membrane (GO:0016020)|MutSbeta complex (GO:0032302)|nuclear chromosome (GO:0000228)|nucleus (GO:0005634)	ATP binding (GO:0005524)|centromeric DNA binding (GO:0019237)|damaged DNA binding (GO:0003684)|DNA-dependent ATPase activity (GO:0008094)|double-strand/single-strand DNA junction binding (GO:0000406)|enzyme binding (GO:0019899)|heteroduplex DNA loop binding (GO:0000404)|Y-form DNA binding (GO:0000403)	p.A168T(1)|p.A177T(1)		NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	29		Lung NSC(167;0.00479)|all_lung(232;0.00507)|Ovarian(174;0.0261)|Breast(144;0.244)		OV - Ovarian serous cystadenocarcinoma(54;2.38e-45)|Epithelial(54;1.58e-38)|all cancers(79;4.93e-33)		TCTTCTACACGCAAAGAATGC	0.388								Mismatch excision repair (MMR)																													Melanoma(88;1010 1399 13793 26548 36275)	ENST00000265081.6																			2	Substitution - Missense(2)	p.A168T(1)|p.A177T(1)	prostate(2)	NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	29						c.(529-531)Gca>Aca	Mismatch excision repair (MMR)	mutS homolog 3		G	THR/ALA	1,4405	2.1+/-5.4	0,1,2202	59	57	58		529	4.7	1	5		58	0,8600		0,0,4300	no	missense	MSH3	NM_002439.3	58	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	177/1138	79961132	1,13005	2203	4300	6503	SO:0001583	missense	4437				maintenance of DNA repeat elements|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|somatic recombination of immunoglobulin gene segments	MutSbeta complex|nuclear chromosome	ATP binding|DNA-dependent ATPase activity|double-strand/single-strand DNA junction binding|enzyme binding|loop DNA binding|Y-form DNA binding	g.chr5:79961132G>A	U61981	CCDS34195.1	5q11-q12	2013-09-12	2013-09-12		ENSG00000113318	ENSG00000113318			7326	protein-coding gene	gene with protein product	"Divergent upstream protein", "Mismatch repair protein 1"	600887	"mutS (E. coli) homolog 3", "mutS homolog 3 (E. coli)"				Standard	NM_002439		Approved	DUP, MRP1	uc003kgz.4	P20585	OTTHUMG00000162540	ENST00000265081.6:c.529G>A	5.37:g.79961132G>A	ENSP00000265081:p.Ala177Thr						p.A177T	NM_002439.4	NP_002430.3	P20585	MSH3_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;2.38e-45)|Epithelial(54;1.58e-38)|all cancers(79;4.93e-33)	3	609	+		Lung NSC(167;0.00479)|all_lung(232;0.00507)|Ovarian(174;0.0261)|Breast(144;0.244)	177			Interaction with EXO1.		A1L480|A1L482|A6NMM6|Q6PJT5|Q86UQ6|Q92867	Missense_Mutation	SNP	ENST00000265081.6	37	c.529G>A	CCDS34195.1	.	.	.	.	.	.	.	.	.	.	G	11.51	1.658939	0.29515	2.27E-4	0.0	ENSG00000113318	ENST00000265081;ENST00000535995	D	0.87179	-2.22	5.62	4.69	0.59074	.	0.475283	0.21461	N	0.074168	T	0.81202	0.4773	L	0.52573	1.65	0.31133	N	0.707508	B	0.29037	0.231	B	0.17722	0.019	T	0.77832	-0.2441	9	.	.	.	-20.0476	10.9953	0.47571	0.0:0.0:0.8142:0.1858	.	177	P20585	MSH3_HUMAN	T	177;168	ENSP00000265081:A177T	.	A	+	1	0	MSH3	79996888	0.996000	0.38824	0.991000	0.47740	0.365000	0.29674	2.085000	0.41634	2.640000	0.89533	0.591000	0.81541	GCA		0.388	MSH3-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369471.1	NM_002439		45	67	0	0	0	0.870114	0	45	67					A	79961132	G	A	79961132	3	1	24	1	0	0	0	0	1	0	0	0	9871	1087	38	1	539	1	MSH3	5	79961132	Missense_Mutation	SNP	G	TCGA-CH-5752-01A-11D-1576-08	70331453	79961132	100954128	23	1016											
TMED9	54732	broad.mit.edu	37	chr5	177022271	177022271	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttatattcccctgcagtggCgagaggagcgcttccggcag	7	9	13	12	3	0	1	0	0	0	1	2	3	2	2	3	3	2	3	3	3	2	4			TCGA-CH-5752-01A-11D-1576-08	TCGA-CH-5752-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f691ec8f-d3dd-4385-bc02-c29254d37c37	12e9a8b5-35d2-401b-aa04-653ab14c2331	g.chr5:177022271C>T	ENST00000332598.6	+	5	619	c.562C>T	c.(562-564)Cga>Tga	p.R188*		NM_017510.4	NP_059980.2	Q9BVK6	TMED9_HUMAN	transmembrane emp24 protein transport domain containing 9	188					COPI coating of Golgi vesicle (GO:0048205)|Golgi organization (GO:0007030)|positive regulation of organelle organization (GO:0010638)|protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|trans-Golgi network transport vesicle (GO:0030140)	syntaxin binding (GO:0019905)	p.R188*(1)		endometrium(1)|large_intestine(1)|lung(5)|prostate(1)|upper_aerodigestive_tract(2)	10	all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CCTGCAGTGGCGAGAGGAGCG	0.602																																						ENST00000332598.6																			1	Substitution - Nonsense(1)	p.R188*(1)	prostate(1)	endometrium(1)|large_intestine(1)|lung(5)|prostate(1)|upper_aerodigestive_tract(2)	10						c.(562-564)Cga>Tga		transmembrane emp24 protein transport domain containing 9							51	48	49					5																	177022271		2203	4300	6503	SO:0001587	stop_gained	54732				transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment|integral to membrane		g.chr5:177022271C>T	AF441399	CCDS4428.1	5q35.3	2008-02-05			ENSG00000184840	ENSG00000184840			24878	protein-coding gene	gene with protein product						12477932	Standard	NM_017510		Approved	HSGP25L2G	uc003mhx.3	Q9BVK6	OTTHUMG00000130859	ENST00000332598.6:c.562C>T	5.37:g.177022271C>T	ENSP00000330945:p.Arg188*						p.R188*	NM_017510.4	NP_059980.2	Q9BVK6	TMED9_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		5	619	+	all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	188					Q14437|Q8WZ61	Nonsense_Mutation	SNP	ENST00000332598.6	37	c.562C>T	CCDS4428.1	.	.	.	.	.	.	.	.	.	.	C	29.0	4.965610	0.92855	.	.	ENSG00000184840	ENST00000332598	.	.	.	5.26	3.38	0.38709	.	0.063886	0.64402	D	0.000004	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-1.3603	12.2683	0.54691	0.3069:0.6931:0.0:0.0	.	.	.	.	X	188	.	ENSP00000330945:R188X	R	+	1	2	TMED9	176954877	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	5.850000	0.69473	1.184000	0.42957	0.561000	0.74099	CGA		0.602	TMED9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253433.1	NM_017510		29	62	0	0	0	0.740014	0	29	62					T	177022271	C	T	177022271	4	4	24	1	0	0	0	0	0	1	0	0	16009	760	27	1	580	1	TMED9	5	177022271	Nonsense_Mutation	SNP	C	TCGA-CH-5752-01A-11D-1576-08	97061139	177022271	3892989	24	1017											
TRAM2	9697	broad.mit.edu	37	chr6	52400646	52400646	+	Splice_Site	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggcagtcttggctgtgaccTgtaaaacaaaggaaaagagt	15	8	12	6	0	1	2	0	1	1	1	1	3	1	3	1	3	1	3	1	3	5	2			TCGA-CH-5752-01A-11D-1576-08	TCGA-CH-5752-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f691ec8f-d3dd-4385-bc02-c29254d37c37	12e9a8b5-35d2-401b-aa04-653ab14c2331	g.chr6:52400646T>A	ENST00000182527.3	-	2	120		c.e2-2			NM_012288.3	NP_036420.1	Q15035	TRAM2_HUMAN	translocation associated membrane protein 2						collagen biosynthetic process (GO:0032964)|protein transport (GO:0015031)	integral component of membrane (GO:0016021)		p.?(1)		endometrium(3)|large_intestine(1)|lung(7)|prostate(1)|skin(1)	13	Lung NSC(77;0.109)					GGCTGTGACCTGTAAAACAAA	0.438																																						ENST00000182527.3																			1	Unknown(1)	p.?(1)	prostate(1)	endometrium(3)|large_intestine(1)|lung(7)|prostate(1)|skin(1)	13						c.e2-2		translocation associated membrane protein 2							84	82	83					6																	52400646		2203	4300	6503	SO:0001630	splice_region_variant	9697				collagen biosynthetic process|protein transport|transmembrane transport	integral to membrane	protein binding	g.chr6:52400646T>A	D31762	CCDS34477.1	6p21.1-p12	2008-02-05			ENSG00000065308	ENSG00000065308			16855	protein-coding gene	gene with protein product		608485				7584044, 10594243	Standard	NM_012288		Approved	KIAA0057	uc003paq.3	Q15035	OTTHUMG00000014850	ENST00000182527.3:c.121-2A>T	6.37:g.52400646T>A								NM_012288.3	NP_036420.1	Q15035	TRAM2_HUMAN			2	120	-	Lung NSC(77;0.109)							A8K6T6	Splice_Site	SNP	ENST00000182527.3	37		CCDS34477.1	.	.	.	.	.	.	.	.	.	.	T	20.5	4.007403	0.75046	.	.	ENSG00000065308	ENST00000182527	.	.	.	5.14	5.14	0.70334	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.7881	0.57518	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	TRAM2	52508605	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	4.485000	0.60279	2.071000	0.62044	0.533000	0.62120	.		0.438	TRAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040910.1	NM_012288	Intron	3	88	0	0	0	0.115264	0	3	88					A	52400646	T	A	52400646	5	1	24	1	0	0	0	0	0	0	1	0	16450	1594	55	5	1033	5	TRAM2	6	52400646	Splice_Site	SNP	T	TCGA-CH-5752-01A-11D-1576-08		52400646	118714421	25	1018											
LAMA2	3908	broad.mit.edu	37	chr6	129601260	129601260	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ggattgatctgtgatggatgCcctgtcgggtacacaggacc	8	10	14	9	1	1	2	0	2	1	0	2	5	1	5	2	4	2	1	2	4	1	2			TCGA-CH-5752-01A-11D-1576-08	TCGA-CH-5752-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f691ec8f-d3dd-4385-bc02-c29254d37c37	12e9a8b5-35d2-401b-aa04-653ab14c2331	g.chr6:129601260C>T	ENST00000421865.2	+	18	2554	c.2505C>T	c.(2503-2505)tgC>tgT	p.C835C		NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	835	Laminin EGF-like 7. {ECO:0000255|PROSITE- ProRule:PRU00460}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|myelination in peripheral nervous system (GO:0022011)|positive regulation of synaptic transmission, cholinergic (GO:0032224)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|sarcolemma (GO:0042383)	structural molecule activity (GO:0005198)	p.C835C(1)		NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		GTGATGGATGCCCTGTCGGGT	0.453																																						ENST00000421865.2																			1	Substitution - coding silent(1)	p.C835C(1)	prostate(1)	NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194						c.(2503-2505)tgC>tgT		laminin, alpha 2							230	181	197					6																	129601260		2203	4300	6503	SO:0001819	synonymous_variant	3908				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	g.chr6:129601260C>T	Z26653	CCDS5138.1	6q22-q23	2014-09-17	2008-08-01		ENSG00000196569	ENSG00000196569		"Laminins"	6482	protein-coding gene	gene with protein product	"merosin", "congenital muscular dystrophy"	156225		LAMM		2185464, 8294519	Standard	NM_000426		Approved		uc003qbn.3	P24043	OTTHUMG00000015545	ENST00000421865.2:c.2505C>T	6.37:g.129601260C>T							p.C835C	NM_000426.3|NM_001079823.1	NP_000417.2|NP_001073291.1	P24043	LAMA2_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)	18	2554	+			835			Laminin EGF-like 7.		Q14736|Q5VUM2|Q93022	Silent	SNP	ENST00000421865.2	37	c.2505C>T	CCDS5138.1																																																																																				0.453	LAMA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042180.1			4	77	0	0	0	0.150653	0	4	77					T	129601260	C	T	129601260	2	4	24	1	0	0	0	0	0	0	0	1	8606	747	26	3		3	LAMA2	6	129601260	Silent	SNP	C	TCGA-CH-5752-01A-11D-1576-08	77200614	129601260	41513807	26	1019											
CROT	54677	broad.mit.edu	37	chr7	86990868	86990868	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctctttggcataacttgaacTactggcagctattaagaaag	13	12	8	8	0	1	2	0	1	1	1	1	2	1	2	0	2	4	3	0	2	6	6			TCGA-CH-5752-01A-11D-1576-08	TCGA-CH-5752-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f691ec8f-d3dd-4385-bc02-c29254d37c37	12e9a8b5-35d2-401b-aa04-653ab14c2331	g.chr7:86990868T>A	ENST00000331536.3	+	5	588	c.403T>A	c.(403-405)Tac>Aac	p.Y135N	CROT_ENST00000442291.1_Missense_Mutation_p.Y135N|CROT_ENST00000419147.2_Missense_Mutation_p.Y163N	NM_021151.3	NP_066974.2	Q9UKG9	OCTC_HUMAN	carnitine O-octanoyltransferase	135					carnitine metabolic process (GO:0009437)|cellular lipid metabolic process (GO:0044255)|coenzyme A metabolic process (GO:0015936)|fatty acid beta-oxidation (GO:0006635)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|fatty acid metabolic process (GO:0006631)|fatty acid transport (GO:0015908)|generation of precursor metabolites and energy (GO:0006091)|medium-chain fatty acid metabolic process (GO:0051791)|small molecule metabolic process (GO:0044281)	intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	carnitine O-octanoyltransferase activity (GO:0008458)|receptor binding (GO:0005102)	p.Y135N(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)				L-Carnitine(DB00583)	TAACTTGAACTACTGGCAGCT	0.398																																						ENST00000331536.3																			1	Substitution - Missense(1)	p.Y135N(1)	prostate(1)	NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						c.(403-405)Tac>Aac		carnitine O-octanoyltransferase	L-Carnitine(DB00583)						79	77	78					7																	86990868		2203	4300	6503	SO:0001583	missense	54677				fatty acid beta-oxidation using acyl-CoA oxidase|generation of precursor metabolites and energy|transport	peroxisomal matrix	carnitine O-octanoyltransferase activity	g.chr7:86990868T>A		CCDS5604.1, CCDS47634.1, CCDS59062.1	7q21.1	2010-02-26			ENSG00000005469	ENSG00000005469			2366	protein-coding gene	gene with protein product		606090				10486279	Standard	NM_021151		Approved	COT	uc003uit.3	Q9UKG9	OTTHUMG00000023653	ENST00000331536.3:c.403T>A	7.37:g.86990868T>A	ENSP00000331981:p.Tyr135Asn					CROT_ENST00000442291.1_Missense_Mutation_p.Y135N|CROT_ENST00000419147.2_Missense_Mutation_p.Y163N	p.Y135N	NM_021151.3	NP_066974.2	Q9UKG9	OCTC_HUMAN			5	588	+	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)		135					A4D1D6|E7EQF2|Q86V17|Q8IUW9|Q9Y6I2	Missense_Mutation	SNP	ENST00000331536.3	37	c.403T>A	CCDS5604.1	.	.	.	.	.	.	.	.	.	.	T	23.0	4.360649	0.82353	.	.	ENSG00000005469	ENST00000419147;ENST00000331536;ENST00000442291	D;D;D	0.90385	-2.66;-2.66;-2.66	5.86	5.86	0.93980	.	0.000000	0.85682	D	0.000000	D	0.96605	0.8892	M	0.93241	3.395	0.80722	D	1	D;D	0.89917	0.995;1.0	D;D	0.85130	0.949;0.997	D	0.97564	1.0100	10	0.87932	D	0	-8.6824	16.2669	0.82588	0.0:0.0:0.0:1.0	.	163;135	E7EQF2;Q9UKG9	.;OCTC_HUMAN	N	163;135;135	ENSP00000413575:Y163N;ENSP00000331981:Y135N;ENSP00000411983:Y135N	ENSP00000331981:Y135N	Y	+	1	0	CROT	86828804	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	7.740000	0.84986	2.240000	0.73641	0.533000	0.62120	TAC		0.398	CROT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253485.1	NM_021151		6	178	0	0	0	0.217242	0	6	178					A	86990868	T	A	86990868	3	1	24	1	0	0	0	0	1	0	0	0	3894	1522	53	5	501	5	CROT	7	86990868	Missense_Mutation	SNP	T	TCGA-CH-5752-01A-11D-1576-08		86990868	72147795	27	1020											
ABCB4	5244	broad.mit.edu	37	chr7	87082328	87082328	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cctatttcctgtcgtagaatAgcatgaaaaaacttctgcct	12	13	6	10	1	1	2	0	1	1	1	3	2	2	2	3	0	3	2	3	0	7	5			TCGA-CH-5752-01A-11D-1576-08	TCGA-CH-5752-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f691ec8f-d3dd-4385-bc02-c29254d37c37	12e9a8b5-35d2-401b-aa04-653ab14c2331	g.chr7:87082328A>G	ENST00000265723.4	-	6	579	c.468T>C	c.(466-468)gcT>gcC	p.A156A	ABCB4_ENST00000545634.1_Silent_p.A156A|ABCB4_ENST00000453593.1_Silent_p.A156A|ABCB4_ENST00000359206.3_Silent_p.A156A|ABCB4_ENST00000358400.3_Silent_p.A156A	NM_000443.3|NM_018849.2	NP_000434.1|NP_061337.1	P21439	MDR3_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 4	156	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				cellular lipid metabolic process (GO:0044255)|lipid metabolic process (GO:0006629)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intercellular canaliculus (GO:0046581)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|xenobiotic-transporting ATPase activity (GO:0008559)	p.A156A(1)		breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)				Colchicine(DB01394)|Etravirine(DB06414)|Silodosin(DB06207)	GTCGTAGAATAGCATGAAAAA	0.413																																						ENST00000265723.4																			1	Substitution - coding silent(1)	p.A156A(1)	prostate(1)	breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77						c.(466-468)gcT>gcC		ATP-binding cassette, sub-family B (MDR/TAP), member 4							120	109	113					7																	87082328		2203	4300	6503	SO:0001819	synonymous_variant	5244				cellular lipid metabolic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|xenobiotic-transporting ATPase activity	g.chr7:87082328A>G	M23234	CCDS5605.1, CCDS5606.1, CCDS5607.1	7q21	2012-03-14			ENSG00000005471	ENSG00000005471		"ATP binding cassette transporters / subfamily B"	45	protein-coding gene	gene with protein product		171060		PGY3, MDR3		2892668, 11313316	Standard	NM_018850		Approved	MDR2, PFIC-3, GBD1	uc003uiv.1	P21439	OTTHUMG00000023396	ENST00000265723.4:c.468T>C	7.37:g.87082328A>G						ABCB4_ENST00000359206.3_Silent_p.A156A|ABCB4_ENST00000358400.3_Silent_p.A156A|ABCB4_ENST00000453593.1_Silent_p.A156A|ABCB4_ENST00000545634.1_Silent_p.A156A	p.A156A	NM_000443.3|NM_018849.2	NP_000434.1|NP_061337.1	P21439	MDR3_HUMAN			6	579	-	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)		156			ABC transmembrane type-1 1.		A0A2V7|A4D1D3|A4D1D4|A4D1D5|D6W5P3|D6W5P4|Q14813	Silent	SNP	ENST00000265723.4	37	c.468T>C	CCDS5606.1																																																																																				0.413	ABCB4-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000336083.1	NM_000443		3	189	0	0	0	0.115264	0	3	189					G	87082328	A	G	87082328	2	3	24	1	0	0	0	0	0	0	0	1	43	407	15	4		4	ABCB4	7	87082328	Silent	SNP	A	TCGA-CH-5752-01A-11D-1576-08	91460	87082328	72056335	28	1021											
GALNT11	63917	broad.mit.edu	37	chr7	151814291	151814291	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gaagacgaaaagctatggcaAtatcagtgagcgtgtggaac	15	7	13	6	2	1	2	1	1	0	1	1	5	1	3	0	2	3	2	0	2	7	2	rs202052372		TCGA-CH-5752-01A-11D-1576-08	TCGA-CH-5752-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f691ec8f-d3dd-4385-bc02-c29254d37c37	12e9a8b5-35d2-401b-aa04-653ab14c2331	g.chr7:151814291A>G	ENST00000434507.1	+	11	1720	c.1283A>G	c.(1282-1284)aAt>aGt	p.N428S	GALNT11_ENST00000430044.2_Missense_Mutation_p.N428S|GALNT11_ENST00000452146.2_Missense_Mutation_p.N347S|RP5-981O7.2_ENST00000424630.1_RNA|GALNT11_ENST00000320311.2_Missense_Mutation_p.N428S			Q8NCW6	GLT11_HUMAN	polypeptide N-acetylgalactosaminyltransferase 11	428					cellular protein metabolic process (GO:0044267)|cilium morphogenesis (GO:0060271)|determination of left/right symmetry (GO:0007368)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein O-linked glycosylation via threonine (GO:0018243)|regulation of Notch signaling pathway (GO:0008593)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|Notch binding (GO:0005112)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)	p.N428S(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|prostate(5)|skin(2)	27	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.214)	OV - Ovarian serous cystadenocarcinoma(82;0.00168)	UCEC - Uterine corpus endometrioid carcinoma (81;0.177)|BRCA - Breast invasive adenocarcinoma(188;0.0932)		AGCTATGGCAATATCAGTGAG	0.348																																						ENST00000434507.1																			1	Substitution - Missense(1)	p.N428S(1)	prostate(1)	breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|prostate(5)|skin(2)	27						c.(1282-1284)aAt>aGt		UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 11 (GalNAc-T11)							142	143	143					7																	151814291		2203	4300	6503	SO:0001583	missense	63917					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr7:151814291A>G	AC006017	CCDS5930.1	7q36.1	2014-05-09	2014-05-09		ENSG00000178234	ENSG00000178234	2.4.1.41	"Glycosyltransferase family 2 domain containing"	19875	protein-coding gene	gene with protein product	"polypeptide GalNAc transferase 11"	615130	"UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 11 (GalNAc-T11)"			11925450	Standard	NM_022087		Approved	GalNAc-T11	uc010lqg.1	Q8NCW6	OTTHUMG00000157251	ENST00000434507.1:c.1283A>G	7.37:g.151814291A>G	ENSP00000416787:p.Asn428Ser					GALNT11_ENST00000320311.2_Missense_Mutation_p.N428S|GALNT11_ENST00000430044.2_Missense_Mutation_p.N428S|GALNT11_ENST00000452146.2_Missense_Mutation_p.N347S	p.N428S			Q8NCW6	GLT11_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00168)	UCEC - Uterine corpus endometrioid carcinoma (81;0.177)|BRCA - Breast invasive adenocarcinoma(188;0.0932)	11	1720	+	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.214)	428					B3KWF4|Q6PCD1|Q9H6C2|Q9H6Z5|Q9UDR8	Missense_Mutation	SNP	ENST00000434507.1	37	c.1283A>G	CCDS5930.1	.	.	.	.	.	.	.	.	.	.	A	21.6	4.172794	0.78452	.	.	ENSG00000178234	ENST00000430044;ENST00000452146;ENST00000443352;ENST00000434507;ENST00000320311	T;T;T;T	0.29142	1.58;1.58;1.58;1.58	5.71	5.71	0.89125	.	0.050407	0.85682	D	0.000000	T	0.33235	0.0856	L	0.38175	1.15	0.80722	D	1	P;D;P	0.54772	0.864;0.968;0.864	B;P;B	0.47744	0.354;0.556;0.407	T	0.10042	-1.0647	10	0.87932	D	0	.	14.5627	0.68151	1.0:0.0:0.0:0.0	.	347;428;428	B7Z5G5;B3KWF4;Q8NCW6	.;.;GLT11_HUMAN	S	428;347;428;428;428	ENSP00000395122:N428S;ENSP00000393399:N347S;ENSP00000416787:N428S;ENSP00000315835:N428S	ENSP00000315835:N428S	N	+	2	0	GALNT11	151445224	1.000000	0.71417	0.278000	0.24718	0.952000	0.60782	9.065000	0.93941	2.168000	0.68352	0.459000	0.35465	AAT		0.348	GALNT11-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348184.1	NM_022087		104	238	0	0	0	0.870114	0	104	238					G	151814291	A	G	151814291	3	3	24	1	0	0	0	0	1	0	0	0	6209	101	4	4	1313	4	GALNT11	7	151814291	Missense_Mutation	SNP	A	TCGA-CH-5752-01A-11D-1576-08	64731963	151814291	7324372	29	1022											
MLL3	58508	broad.mit.edu	37	chr7	151845758	151845758	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tccaagtcaaggttgagtagCcttgctggtccatctgtcaa	9	12	10	10	0	3	1	2	1	1	0	5	1	5	1	3	2	2	3	3	2	4	3			TCGA-CH-5752-01A-11D-1576-08	TCGA-CH-5752-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f691ec8f-d3dd-4385-bc02-c29254d37c37	12e9a8b5-35d2-401b-aa04-653ab14c2331	g.chr7:151845758C>A	ENST00000262189.6	-	52	13472	c.13254G>T	c.(13252-13254)agG>agT	p.R4418S	KMT2C_ENST00000355193.2_Missense_Mutation_p.R4475S	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	4418					histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.R4418S(1)|p.R4475S(1)									GGTTGAGTAGCCTTGCTGGTC	0.488																																						ENST00000355193.2																			2	Substitution - Missense(2)	p.R4418S(1)|p.R4475S(1)	prostate(2)								c.(13423-13425)agG>agT		lysine (K)-specific methyltransferase 2C							93	85	87					7																	151845758		2203	4300	6503	SO:0001583	missense	58508							g.chr7:151845758C>A	AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	13726	protein-coding gene	gene with protein product		606833	"myeloid/lymphoid or mixed-lineage leukemia 3"	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.13254G>T	7.37:g.151845758C>A	ENSP00000262189:p.Arg4418Ser					KMT2C_ENST00000262189.6_Missense_Mutation_p.R4418S	p.R4475S							53	13643	-								Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Missense_Mutation	SNP	ENST00000262189.6	37	c.13425G>T	CCDS5931.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.90|14.90	2.673089|2.673089	0.47781|0.47781	.|.	.|.	ENSG00000055609|ENSG00000055609	ENST00000360104|ENST00000262189;ENST00000355193;ENST00000424877	.|D;D;D	.|0.90844	.|-2.15;-2.13;-2.74	5.24|5.24	4.33|4.33	0.51752|0.51752	.|.	.|0.000000	.|0.47455	.|U	.|0.000223	D|D	0.94430|0.94430	0.8208|0.8208	M|M	0.78637|0.78637	2.42|2.42	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|0.997;1.0;1.0	.|D;D;D	.|0.85130	.|0.977;0.997;0.997	D|D	0.94395|0.94395	0.7617|0.7617	5|10	.|0.87932	.|D	.|0	.|.	10.6467|10.6467	0.45623|0.45623	0.0:0.8391:0.0:0.1609|0.0:0.8391:0.0:0.1609	.|.	.|4418;3536;4475	.|Q8NEZ4;Q8NEZ4-2;Q8NEZ4-3	.|MLL3_HUMAN;.;.	S|S	1979|4418;4475;1035	.|ENSP00000262189:R4418S;ENSP00000347325:R4475S;ENSP00000410411:R1035S	.|ENSP00000262189:R4418S	A|R	-|-	1|3	0|2	MLL3|MLL3	151476691|151476691	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.974000|0.974000	0.67602|0.67602	1.621000|1.621000	0.36986|0.36986	1.271000|1.271000	0.44313|0.44313	0.557000|0.557000	0.71058|0.71058	GCT|AGG		0.488	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3			5	172	1	0	0.000602214	0.184627	0.000706301	5	172					A	151845758	C	A	151845758	3	1	24	1	0	0	0	0	1	0	0	0	9622	738	26	5	1513	5	MLL3	7	151845758	Missense_Mutation	SNP	C	TCGA-CH-5752-01A-11D-1576-08	31467	151845758	7292905	30	1023											
MLL3	58508	broad.mit.edu	37	chr7	151853293	151853293	+	Frame_Shift_Del	DEL	C	C	-																															ggaggctataatcataccttCatggctcactaacactccgg																										TCGA-CH-5752-01A-11D-1576-08	TCGA-CH-5752-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f691ec8f-d3dd-4385-bc02-c29254d37c37	12e9a8b5-35d2-401b-aa04-653ab14c2331	g.chr7:151853293delC	ENST00000262189.6	-	45	12027	c.11809delG	c.(11809-11811)gaafs	p.E3937fs	KMT2C_ENST00000485241.1_5'Flank|KMT2C_ENST00000355193.2_Frame_Shift_Del_p.E3994fs	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	3937					histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										ATCATACCTTCATGGCTCACT	0.438																																						ENST00000355193.2																			0											c.(11980-11982)aafs		lysine (K)-specific methyltransferase 2C							137	140	139					7																	151853293		2203	4300	6503	SO:0001589	frameshift_variant	58508							g.chr7:151853293delC	AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	13726	protein-coding gene	gene with protein product		606833	"myeloid/lymphoid or mixed-lineage leukemia 3"	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.11809delG	7.37:g.151853293delC	ENSP00000262189:p.Glu3937fs					KMT2C_ENST00000262189.6_Frame_Shift_Del_p.E3937fs	p.E3994fs							46	12198	-								Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Frame_Shift_Del	DEL	ENST00000262189.6	37	c.11980delG	CCDS5931.1																																																																																				0.438	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3			22	271						22	271	---	---	---	---	-	151853293	C	-	151853293	7	5	24	1	0	1	0	1	0	0	0	0	9622	835	29	0	2986	0	MLL3	7	151853293	Frame_Shift_Del	DEL	C	TCGA-CH-5752-01A-11D-1576-08	7535	151853293	7285370	31	1024											
MLL3	58508	broad.mit.edu	37	chr7	151859486	151859487	+	Frame_Shift_Ins	INS	-	-	TT																															tcttggcctgggcaggactcINStgtctcagccttttccagtt																										TCGA-CH-5752-01A-11D-1576-08	TCGA-CH-5752-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f691ec8f-d3dd-4385-bc02-c29254d37c37	12e9a8b5-35d2-401b-aa04-653ab14c2331	g.chr7:151859486_151859487insTT	ENST00000262189.6	-	43	11393_11394	c.11175_11176insAA	c.(11173-11178)acagagfs	p.E3726fs	KMT2C_ENST00000355193.2_Frame_Shift_Ins_p.E3726fs	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	3726					histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										GGGCAGGACTCTGTCTCAGCCT	0.48																																						ENST00000355193.2																			0											c.(11173-11178)acagtcfs		lysine (K)-specific methyltransferase 2C																																				SO:0001589	frameshift_variant	58508							g.chr7:151859486_151859487insTT	AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	13726	protein-coding gene	gene with protein product		606833	"myeloid/lymphoid or mixed-lineage leukemia 3"	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.11175_11176insAA	7.37:g.151859486_151859487insTT	ENSP00000262189:p.Glu3726fs					KMT2C_ENST00000262189.6_Frame_Shift_Ins_p.V3726fs	p.V3726fs							43	11393_11394	-								Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Frame_Shift_Ins	INS	ENST00000262189.6	37	c.11175_11176insAA	CCDS5931.1																																																																																				0.48	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3			196	453						196	453	---	---	---	---	TT	151859487	-	TT	151859486	7	5	24	1	0	1	1	0	0	0	0	0	9622	922	32	0	3627	0	MLL3	7	151859486	Frame_Shift_Ins	INS	-	TCGA-CH-5752-01A-11D-1576-08	6193	151859486	7279177	32	1025											
MLL3	58508	broad.mit.edu	37	chr7	151873437	151873437	+	Frame_Shift_Del	DEL	G	G	-																															tctgctgtgctaatgtttgaGgaatcattagctgttggggt																										TCGA-CH-5752-01A-11D-1576-08	TCGA-CH-5752-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f691ec8f-d3dd-4385-bc02-c29254d37c37	12e9a8b5-35d2-401b-aa04-653ab14c2331	g.chr7:151873437delG	ENST00000262189.6	-	38	9319	c.9101delC	c.(9100-9102)cctfs	p.P3034fs	KMT2C_ENST00000355193.2_Frame_Shift_Del_p.P3034fs	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	3034	Gln-rich.				histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										TAATGTTTGAGGAATCATTAG	0.473																																						ENST00000355193.2																			0											c.(9100-9102)ctfs		lysine (K)-specific methyltransferase 2C							129	121	124					7																	151873437		2203	4300	6503	SO:0001589	frameshift_variant	58508							g.chr7:151873437delG	AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	13726	protein-coding gene	gene with protein product		606833	"myeloid/lymphoid or mixed-lineage leukemia 3"	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.9101delC	7.37:g.151873437delG	ENSP00000262189:p.Pro3034fs					KMT2C_ENST00000262189.6_Frame_Shift_Del_p.P3034fs	p.P3034fs							38	9319	-								Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Frame_Shift_Del	DEL	ENST00000262189.6	37	c.9101delC	CCDS5931.1																																																																																				0.473	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3			61	145						61	145	---	---	---	---	-	151873437	G	-	151873437	7	5	24	1	0	1	0	1	0	0	0	0	9622	1000	35	0	5722	0	MLL3	7	151873437	Frame_Shift_Del	DEL	G	TCGA-CH-5752-01A-11D-1576-08	13951	151873437	7265226	33	1026											
ST18	9705	broad.mit.edu	37	chr8	53045685	53045685	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ccacctttccttgcacgaggGcatccggacaagctgaaata	11	8	9	13	2	0	1	0	1	0	0	2	3	2	2	4	2	2	3	4	2	3	3			TCGA-CH-5752-01A-11D-1576-08	TCGA-CH-5752-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f691ec8f-d3dd-4385-bc02-c29254d37c37	12e9a8b5-35d2-401b-aa04-653ab14c2331	g.chr8:53045685G>A	ENST00000276480.7	-	21	3059	c.2376C>T	c.(2374-2376)tgC>tgT	p.C792C		NM_014682.2	NP_055497.1	O60284	ST18_HUMAN	suppression of tumorigenicity 18, zinc finger	792					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.C792C(1)		NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				TTGCACGAGGGCATCCGGACA	0.468																																						ENST00000276480.7																			1	Substitution - coding silent(1)	p.C792C(1)	prostate(1)	NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85						c.(2374-2376)tgC>tgT		suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein)							119	115	117					8																	53045685		2203	4300	6503	SO:0001819	synonymous_variant	9705					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:53045685G>A	AB011107	CCDS6149.1	8q11.23	2014-03-24	2014-03-24	2002-12-13	ENSG00000147488	ENSG00000147488		"Zinc fingers, C2HC-type containing"	18695	protein-coding gene	gene with protein product	"neural zinc finger transcription factor 3"		"zinc finger protein 387", "suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein)"	ZNF387		15489893	Standard	NM_014682		Approved	KIAA0535, ZC2HC10, NZF3	uc003xra.2	O60284	OTTHUMG00000164233	ENST00000276480.7:c.2376C>T	8.37:g.53045685G>A							p.C792C	NM_014682.2	NP_055497.1	O60284	ST18_HUMAN			21	3059	-		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)	792					Q17RY1	Silent	SNP	ENST00000276480.7	37	c.2376C>T	CCDS6149.1																																																																																				0.468	ST18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377867.1			4	233	0	0	0	0.150653	0	4	233					A	53045685	G	A	53045685	2	1	24	1	0	0	0	0	0	0	0	1	15211	1195	42	3		3	ST18	8	53045685	Silent	SNP	G	TCGA-CH-5752-01A-11D-1576-08		53045685	93318337	34	1027											
NBN	4683	broad.mit.edu	37	chr8	90955524	90955524	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttctagttctgtattctttCgagcatgatgagctattaga	9	17	8	7	1	3	3	0	2	3	1	4	4	3	3	0	0	2	4	0	0	4	8			TCGA-CH-5752-01A-11D-1576-08	TCGA-CH-5752-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f691ec8f-d3dd-4385-bc02-c29254d37c37	12e9a8b5-35d2-401b-aa04-653ab14c2331	g.chr8:90955524C>A	ENST00000265433.3	-	14	2295	c.2141G>T	c.(2140-2142)cGa>cTa	p.R714L	NBN_ENST00000409330.1_Missense_Mutation_p.R632L	NM_002485.4	NP_002476.2	O60934	NBN_HUMAN	nibrin	714					blastocyst growth (GO:0001832)|cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|DNA damage checkpoint (GO:0000077)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|intrinsic apoptotic signaling pathway (GO:0097193)|isotype switching (GO:0045190)|meiotic nuclear division (GO:0007126)|mitotic cell cycle checkpoint (GO:0007093)|mitotic G2 DNA damage checkpoint (GO:0007095)|neuromuscular process controlling balance (GO:0050885)|positive regulation of kinase activity (GO:0033674)|positive regulation of protein autophosphorylation (GO:0031954)|regulation of DNA-dependent DNA replication initiation (GO:0030174)|telomere maintenance (GO:0000723)	Mre11 complex (GO:0030870)|nuclear chromosome, telomeric region (GO:0000784)|nuclear inclusion body (GO:0042405)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|replication fork (GO:0005657)|site of double-strand break (GO:0035861)	damaged DNA binding (GO:0003684)|protein N-terminus binding (GO:0047485)|transcription factor binding (GO:0008134)	p.R714L(1)		autonomic_ganglia(1)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(2)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	27			BRCA - Breast invasive adenocarcinoma(11;0.0344)			TGTATTCTTTCGAGCATGATG	0.398								Homologous recombination																														ENST00000265433.3																			1	Substitution - Missense(1)	p.R714L(1)	prostate(1)	autonomic_ganglia(1)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(2)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	27						c.(2140-2142)cGa>cTa	Homologous recombination	nibrin							176	159	164					8																	90955524		2203	4300	6503	SO:0001583	missense	4683				cell cycle arrest|DNA damage response, signal transduction by p53 class mediator|DNA duplex unwinding|double-strand break repair via homologous recombination|meiosis|mitotic cell cycle G1/S transition checkpoint|mitotic cell cycle G2/M transition DNA damage checkpoint|positive regulation of kinase activity|positive regulation of protein autophosphorylation|regulation of DNA-dependent DNA replication initiation|telomere maintenance	Mre11 complex|nuclear chromosome, telomeric region|nuclear inclusion body|nucleolus|nucleoplasm	protein N-terminus binding|transcription factor binding	g.chr8:90955524C>A	AF058696	CCDS6249.1	8q21-q24	2014-09-17	2005-06-02	2005-06-02	ENSG00000104320	ENSG00000104320			7652	protein-coding gene	gene with protein product		602667	"Nijmegen breakage syndrome 1 (nibrin)"	NBS, NBS1		9590181, 9590180	Standard	XM_005250923		Approved	ATV, AT-V2, AT-V1	uc003yej.1	O60934	OTTHUMG00000153546	ENST00000265433.3:c.2141G>T	8.37:g.90955524C>A	ENSP00000265433:p.Arg714Leu					NBN_ENST00000409330.1_Missense_Mutation_p.R632L	p.R714L	NM_002485.4	NP_002476.2	O60934	NBN_HUMAN	BRCA - Breast invasive adenocarcinoma(11;0.0344)		14	2295	-			714					B2R626|B2RNC5|O60672|Q32NF7|Q53FM6|Q63HR6|Q7LDM2	Missense_Mutation	SNP	ENST00000265433.3	37	c.2141G>T	CCDS6249.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.096879	0.76870	.	.	ENSG00000104320	ENST00000265433;ENST00000409330	T;T	0.61392	0.13;0.11	5.91	3.0	0.34707	DNA repair Nbs1, C-terminal (1);	0.324291	0.35585	N	0.003114	T	0.61961	0.2389	L	0.51422	1.61	0.30998	N	0.720658	D;D	0.54397	0.966;0.966	P;P	0.57152	0.814;0.814	T	0.64761	-0.6331	10	0.72032	D	0.01	-3.6212	8.6164	0.33833	0.0:0.604:0.0:0.396	.	714;714	A6H8Y5;O60934	.;NBN_HUMAN	L	714;632	ENSP00000265433:R714L;ENSP00000386924:R632L	ENSP00000265433:R714L	R	-	2	0	NBN	91024700	0.075000	0.21258	0.987000	0.45799	0.988000	0.76386	0.036000	0.13819	0.335000	0.23614	-0.142000	0.14014	CGA		0.398	NBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331583.3	NM_001024688		4	255	1	0	0.014758	0.184627	0.0166906	4	255					A	90955524	C	A	90955524	3	1	24	1	0	0	0	0	1	0	0	0	10191	884	31	5	135	5	NBN	8	90955524	Missense_Mutation	SNP	C	TCGA-CH-5752-01A-11D-1576-08	37909839	90955524	55408498	35	1028											
DSCC1	79075	broad.mit.edu	37	chr8	120850633	120850638	+	In_Frame_Del	DEL	CACCAG	CACCAG	-																															tctggtctcgagtgtctatcCaccagcgctaaaccctacaa																										TCGA-CH-5752-01A-11D-1576-08	TCGA-CH-5752-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f691ec8f-d3dd-4385-bc02-c29254d37c37	12e9a8b5-35d2-401b-aa04-653ab14c2331	g.chr8:120850633_120850638delCACCAG	ENST00000313655.4	-	8	1148_1153	c.934_939delCTGGTG	c.(934-939)ctggtgdel	p.LV312del		NM_024094.2	NP_076999.2	Q9BVC3	DCC1_HUMAN	DNA replication and sister chromatid cohesion 1	312					DNA replication (GO:0006260)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|post-translational protein acetylation (GO:0034421)|regulation of DNA replication (GO:0006275)	chromatin (GO:0000785)|chromosome, centromeric region (GO:0000775)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)			NS(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(1)|pancreas(1)	9	Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			AGTGTCTATCCACCAGCGCTAAACCC	0.364																																						ENST00000313655.4																			0				NS(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(1)|pancreas(1)	9						c.(934-939)del		DNA replication and sister chromatid cohesion 1																																				SO:0001651	inframe_deletion	79075				DNA replication|maintenance of mitotic sister chromatid cohesion|post-translational protein acetylation|regulation of DNA replication	chromatin|chromosome, centromeric region|nucleoplasm	DNA binding|protein binding	g.chr8:120850633_120850638delCACCAG		CCDS6330.1	8q24.12	2013-05-24	2013-05-24		ENSG00000136982	ENSG00000136982			24453	protein-coding gene	gene with protein product	"defective in sister chromatid cohesion homolog 1 (S. cerevisiae)"	613203	"defective in sister chromatid cohesion 1 homolog (S. cerevisiae)"			12766176, 20826785	Standard	NM_024094		Approved	DCC1, hDCC1, MGC5528	uc003yov.3	Q9BVC3	OTTHUMG00000165010	ENST00000313655.4:c.934_939delCTGGTG	8.37:g.120850633_120850638delCACCAG	ENSP00000322180:p.Leu312_Val313del						p.LV312del	NM_024094.2	NP_076999.2	Q9BVC3	DCC1_HUMAN	STAD - Stomach adenocarcinoma(47;0.00185)		8	1148_1153	-	Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161)		312					Q969N5	In_Frame_Del	DEL	ENST00000313655.4	37	c.934_939delCTGGTG	CCDS6330.1																																																																																				0.364	DSCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381443.1	NM_024094		47	170						47	170	---	---	---	---	-	120850638	CACCAG	-	120850633	7	5	24	1	0	1	0	1	0	0	0	0	4770	581	21	0	250	0	DSCC1	8	120850633	In_Frame_Del	DEL	CACCAG	TCGA-CH-5752-01A-11D-1576-08	29895109	120850633	25513389	36	1029											
CYC1	1537	broad.mit.edu	37	chr8	145151373	145151373	+	Frame_Shift_Del	DEL	A	A	-																															caacggagcattgccccctgAcctcagctacatcgtgcgag																										TCGA-CH-5752-01A-11D-1576-08	TCGA-CH-5752-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f691ec8f-d3dd-4385-bc02-c29254d37c37	12e9a8b5-35d2-401b-aa04-653ab14c2331	g.chr8:145151373delA	ENST00000318911.4	+	4	660	c.587delA	c.(586-588)gacfs	p.D196fs		NM_001916.3	NP_001907	P08574	CY1_HUMAN	cytochrome c-1	196	Cytochrome c.				cellular metabolic process (GO:0044237)|respiratory electron transport chain (GO:0022904)|response to glucagon (GO:0033762)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|respiratory chain (GO:0070469)	electron transporter, transferring electrons from CoQH2-cytochrome c reductase complex and cytochrome c oxidase complex activity (GO:0045155)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(2)	15	all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;8.71e-40)|all cancers(56;3e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			TTGCCCCCTGACCTCAGCTAC	0.577											OREG0019052	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000318911.4																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(2)	15						c.(586-588)gcfs		cytochrome c-1							115	109	111					8																	145151373		2203	4300	6503	SO:0001589	frameshift_variant	1537				respiratory electron transport chain|transport	cell junction|integral to membrane|mitochondrial inner membrane|respiratory chain	electron transporter, transferring electrons from CoQH2-cytochrome c reductase complex and cytochrome c oxidase complex activity|heme binding	g.chr8:145151373delA	BC001006	CCDS6415.1	8q24	2011-07-04			ENSG00000179091	ENSG00000179091		"Mitochondrial respiratory chain complex / Complex III"	2579	protein-coding gene	gene with protein product		123980					Standard	NM_001916		Approved	UQCR4	uc003zaz.4	P08574	OTTHUMG00000165242	ENST00000318911.4:c.587delA	8.37:g.145151373delA	ENSP00000317159:p.Asp196fs		OREG0019052	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1692		p.D196fs	NM_001916.3	NP_001907.2	P08574	CY1_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;8.71e-40)|all cancers(56;3e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		4	660	+	all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		196			Cytochrome c.		Q5U062|Q6FHS7	Frame_Shift_Del	DEL	ENST00000318911.4	37	c.587delA	CCDS6415.1																																																																																				0.577	CYC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382895.1	NM_001916		20	145						20	145	---	---	---	---	-	145151373	A	-	145151373	7	5	24	1	0	1	0	1	0	0	0	0	4135	275	10	0	601	0	CYC1	8	145151373	Frame_Shift_Del	DEL	A	TCGA-CH-5752-01A-11D-1576-08	24300740	145151373	1212649	37	1030											
FAM75A6	389730	broad.mit.edu	37	chr9	43627187	43627187	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gataggactgggaaagaagaCtgaagatgggcctgagcctc	13	6	15	7	0	0	5	0	2	0	3	1	8	0	7	2	3	1	0	2	3	4	1	rs561244020	byFrequency	TCGA-CH-5752-01A-11D-1576-08	TCGA-CH-5752-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f691ec8f-d3dd-4385-bc02-c29254d37c37	12e9a8b5-35d2-401b-aa04-653ab14c2331	g.chr9:43627187C>T	ENST00000332857.6	-	4	1528	c.1500G>A	c.(1498-1500)caG>caA	p.Q500Q	SPATA31A6_ENST00000496386.1_5'Flank	NM_001145196.1	NP_001138668.1	Q5VVP1	S31A6_HUMAN	SPATA31 subfamily A, member 6	500					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)		p.Q500Q(1)									GGAAAGAAGACTGAAGATGGG	0.547													T|||	3	0.000599042	0	0	5008	,	,		14137	0		0.002	False		,,,				2504	0.001					ENST00000332857.6																			1	Substitution - coding silent(1)	p.Q500Q(1)	prostate(1)								c.(1498-1500)caG>caA		SPATA31 subfamily A, member 6							63	68	66					9																	43627187		612	1534	2146	SO:0001819	synonymous_variant	389730							g.chr9:43627187C>T		CCDS75837.1	9p11.2	2012-10-15	2012-10-12	2012-10-12	ENSG00000185775	ENSG00000185775			32006	protein-coding gene	gene with protein product			"family with sequence similarity 75, member A6"	FAM75A6		20850414	Standard	NM_001145196		Approved	OTTHUMG00000013224	uc011lrb.2	Q5VVP1	OTTHUMG00000013224	ENST00000332857.6:c.1500G>A	9.37:g.43627187C>T							p.Q500Q	NM_001145196.1	NP_001138668.1					4	1528	-									Silent	SNP	ENST00000332857.6	37	c.1500G>A	CCDS47973.1																																																																																				0.547	SPATA31A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036987.1	NM_001145196		6	526	0	0	0	0.217242	0	6	526					T	43627187	C	T	43627187	2	4	24	1	0	0	0	0	0	0	0	1	5622	564	20	3		3	FAM75A6	9	43627187	Silent	SNP	C	TCGA-CH-5752-01A-11D-1576-08		43627187	97586244	38	1031											
TRPM6	140803	broad.mit.edu	37	chr9	77448983	77448983	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attccaactgtccagattttTctcaaggaatgagaggaatg	13	12	9	7	0	1	2	1	1	1	2	4	5	3	4	2	2	1	0	2	2	4	3			TCGA-CH-5752-01A-11D-1576-08	TCGA-CH-5752-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f691ec8f-d3dd-4385-bc02-c29254d37c37	12e9a8b5-35d2-401b-aa04-653ab14c2331	g.chr9:77448983T>G	ENST00000360774.1	-	6	837	c.600A>C	c.(598-600)agA>agC	p.R200S	TRPM6_ENST00000359047.2_Missense_Mutation_p.R200S|TRPM6_ENST00000361255.3_Missense_Mutation_p.R195S|TRPM6_ENST00000449912.2_Missense_Mutation_p.R195S|TRPM6_ENST00000451710.3_Missense_Mutation_p.R200S|TRPM6_ENST00000376871.3_Missense_Mutation_p.R200S|TRPM6_ENST00000376864.4_Missense_Mutation_p.R200S|TRPM6_ENST00000376872.3_Missense_Mutation_p.R200S|TRPM6_ENST00000483186.1_5'Flank	NM_017662.4	NP_060132.3	Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	200					calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|response to toxic substance (GO:0009636)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium channel activity (GO:0005262)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)	p.R200S(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						TCCAGATTTTTCTCAAGGAAT	0.403																																						ENST00000451710.3																			1	Substitution - Missense(1)	p.R200S(1)	prostate(1)	NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						c.(598-600)agA>agC		transient receptor potential cation channel, subfamily M, member 6							136	126	130					9																	77448983		2203	4300	6503	SO:0001583	missense	140803				response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr9:77448983T>G	AK026281	CCDS6647.1, CCDS55318.1, CCDS55319.1	9q21.13	2011-12-14	2003-12-02		ENSG00000119121	ENSG00000119121		"Voltage-gated ion channels / Transient receptor potential cation channels"	17995	protein-coding gene	gene with protein product		607009	"hypomagnesemia, secondary hypocalcemia"	HOMG, HSH		10021370, 12032570, 16382100	Standard	NM_017662		Approved	CHAK2, FLJ22628	uc004ajk.1	Q9BX84	OTTHUMG00000020027	ENST00000360774.1:c.600A>C	9.37:g.77448983T>G	ENSP00000354006:p.Arg200Ser					TRPM6_ENST00000360774.1_Missense_Mutation_p.R200S|TRPM6_ENST00000359047.2_Missense_Mutation_p.R200S|TRPM6_ENST00000449912.2_Missense_Mutation_p.R195S|TRPM6_ENST00000376871.3_Missense_Mutation_p.R200S|TRPM6_ENST00000376872.3_Missense_Mutation_p.R200S|TRPM6_ENST00000361255.3_Missense_Mutation_p.R195S|TRPM6_ENST00000376864.4_Missense_Mutation_p.R200S	p.R200S			Q9BX84	TRPM6_HUMAN			6	837	-			200					Q6VPR8|Q6VPR9|Q6VPS0|Q6VPS1|Q6VPS2	Missense_Mutation	SNP	ENST00000360774.1	37	c.600A>C	CCDS6647.1	.	.	.	.	.	.	.	.	.	.	T	13.58	2.280894	0.40394	.	.	ENSG00000119121	ENST00000360774;ENST00000451710;ENST00000376872;ENST00000376871;ENST00000449912;ENST00000361255;ENST00000376870;ENST00000376864;ENST00000359047	T;T;T;T;T;T;T;T	0.02067	4.47;4.47;4.47;4.47;4.47;4.47;4.47;4.47	5.69	0.662	0.17880	.	0.000000	0.85682	D	0.000000	T	0.02533	0.0077	L	0.53249	1.67	0.47094	D	0.999317	B;B;B;B;B;B	0.22003	0.041;0.041;0.041;0.063;0.027;0.025	B;B;B;B;B;B	0.25405	0.011;0.011;0.011;0.049;0.06;0.037	T	0.49890	-0.8891	10	0.33141	T	0.24	.	5.1832	0.15171	0.1258:0.283:0.0:0.5912	.	200;200;200;200;200;195	Q9BX84-7;Q9BX84-6;Q9BX84-5;Q96LV9;Q9BX84;Q9BX84-3	.;.;.;.;TRPM6_HUMAN;.	S	200;200;200;200;195;195;199;200;200	ENSP00000354006:R200S;ENSP00000407341:R200S;ENSP00000366068:R200S;ENSP00000366067:R200S;ENSP00000396672:R195S;ENSP00000354962:R195S;ENSP00000366060:R200S;ENSP00000351942:R200S	ENSP00000351942:R200S	R	-	3	2	TRPM6	76638803	0.278000	0.24230	1.000000	0.80357	0.991000	0.79684	0.317000	0.19487	0.088000	0.17205	0.402000	0.26972	AGA		0.403	TRPM6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000052693.1	NM_017662		12	186	0	0	0	0.38729	0	12	186					G	77448983	T	G	77448983	3	3	24	1	0	0	0	0	1	0	0	0	16587	1780	62	5	5604	5	TRPM6	9	77448983	Missense_Mutation	SNP	T	TCGA-CH-5752-01A-11D-1576-08	33821796	77448983	63764448	39	1032											
C9orf84	158401	broad.mit.edu	37	chr9	114489999	114490000	+	Frame_Shift_Ins	INS	-	-	CCAAA																															aataaagtcgctcaaaaggtINSccaaatcattctcttgtttt																										TCGA-CH-5752-01A-11D-1576-08	TCGA-CH-5752-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f691ec8f-d3dd-4385-bc02-c29254d37c37	12e9a8b5-35d2-401b-aa04-653ab14c2331	g.chr9:114489999_114490000insCCAAA	ENST00000318737.4	-	11	1683_1684	c.1555_1556insTTTGG	c.(1555-1557)gacfs	p.D519fs	C9orf84_ENST00000394777.4_Frame_Shift_Ins_p.D480fs|C9orf84_ENST00000394779.3_Frame_Shift_Ins_p.D480fs|C9orf84_ENST00000374287.3_Frame_Shift_Ins_p.D519fs	NM_173521.3	NP_775792.3	Q5VXU9	CI084_HUMAN	chromosome 9 open reading frame 84	519										breast(1)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(10)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						GCTCAAAAGGTCCAAATCATTC	0.332																																						ENST00000394779.3																			0				breast(1)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(10)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						c.(1438-1440)cctfs		chromosome 9 open reading frame 84																																				SO:0001589	frameshift_variant	158401							g.chr9:114489999_114490000insCCAAA	AL833535	CCDS6781.3, CCDS43863.1	9q32	2012-03-16			ENSG00000165181	ENSG00000165181			26535	protein-coding gene	gene with protein product							Standard	XM_005251738		Approved	FLJ32779	uc004bfr.3	Q5VXU9	OTTHUMG00000020495	ENST00000318737.4:c.1551_1555dupTTTGG	9.37:g.114490000_114490004dupCCAAA	ENSP00000322108:p.Asp519fs					C9orf84_ENST00000374287.3_Frame_Shift_Ins_p.P519fs|C9orf84_ENST00000394777.4_Frame_Shift_Ins_p.P480fs|C9orf84_ENST00000318737.4_Frame_Shift_Ins_p.P519fs	p.P480fs	NM_001080551.1	NP_001074020.1	Q5VXU9	CI084_HUMAN			9	1682_1683	-			519					A2A2V3|Q2M1H8|Q96M73	Frame_Shift_Ins	INS	ENST00000318737.4	37	c.1438_1439insTTTGG	CCDS6781.3																																																																																				0.332	C9orf84-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053656.2	NM_173521		22	326						22	326	---	---	---	---	CCAAA	114490000	-	CCAAA	114489999	7	5	24	1	0	1	1	0	0	0	0	0	2500	1667	58	0	2842	0	C9orf84	9	114489999	Frame_Shift_Ins	INS	-	TCGA-CH-5752-01A-11D-1576-08	37041016	114489999	26723432	40	1033											
CUBN	8029	broad.mit.edu	37	chr10	17032435	17032435	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcctaatgtaccagatacaCtccttgtttggtggatacct	9	14	8	10	0	0	1	0	0	0	1	2	2	2	2	4	2	3	2	4	2	4	6			TCGA-CH-5752-01A-11D-1576-08	TCGA-CH-5752-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f691ec8f-d3dd-4385-bc02-c29254d37c37	12e9a8b5-35d2-401b-aa04-653ab14c2331	g.chr10:17032435C>T	ENST00000377833.4	-	29	4313	c.4248G>A	c.(4246-4248)gaG>gaA	p.E1416E		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	1416	CUB 9. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cholesterol metabolic process (GO:0008203)|cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|tissue homeostasis (GO:0001894)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|cobalamin binding (GO:0031419)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)|transporter activity (GO:0005215)	p.E1416E(1)		breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	ACCAGATACACTCCTTGTTTG	0.517																																						ENST00000377833.4																			1	Substitution - coding silent(1)	p.E1416E(1)	prostate(1)	breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241						c.(4246-4248)gaG>gaA		cubilin (intrinsic factor-cobalamin receptor)	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)						147	139	142					10																	17032435		2203	4300	6503	SO:0001819	synonymous_variant	8029				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity	g.chr10:17032435C>T	AF034611	CCDS7113.1	10p12	2014-09-17			ENSG00000107611	ENSG00000107611			2548	protein-coding gene	gene with protein product		602997		MGA1		9572993, 9478979	Standard	NM_001081		Approved	IFCR, gp280	uc001ioo.3	O60494	OTTHUMG00000017741	ENST00000377833.4:c.4248G>A	10.37:g.17032435C>T							p.E1416E	NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN			29	4313	-			1416			CUB 9.		B0YIZ4|Q5VTA6|Q96RU9	Silent	SNP	ENST00000377833.4	37	c.4248G>A	CCDS7113.1																																																																																				0.517	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047009.1	NM_001081		13	147	0	0	0	0.435327	0	13	147					T	17032435	C	T	17032435	2	4	24	1	0	0	0	0	0	0	0	1	4051	564	20	3		3	CUBN	10	17032435	Silent	SNP	C	TCGA-CH-5752-01A-11D-1576-08		17032435	118502312	41	1034											
NRG3	10718	broad.mit.edu	37	chr10	84745233	84745233	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aagactacgaactggccagcGtagaaaccgaggacagtgca	15	4	12	10	3	0	2	0	0	0	2	0	5	0	3	2	2	5	2	2	2	5	2	rs143042604	byFrequency	TCGA-CH-5752-01A-11D-1576-08	TCGA-CH-5752-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f691ec8f-d3dd-4385-bc02-c29254d37c37	12e9a8b5-35d2-401b-aa04-653ab14c2331	g.chr10:84745233G>A	ENST00000404547.1	+	10	2035	c.2035G>A	c.(2035-2037)Gta>Ata	p.V679I	NRG3_ENST00000556918.1_Missense_Mutation_p.V485I|NRG3_ENST00000372142.2_Missense_Mutation_p.V458I|NRG3_ENST00000372141.2_Missense_Mutation_p.V655I|NRG3_ENST00000545131.1_Missense_Mutation_p.V305I|NRG3_ENST00000537893.1_Missense_Mutation_p.V305I|NRG3_ENST00000404576.2_Missense_Mutation_p.V459I			P56975	NRG3_HUMAN	neuregulin 3	679					activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|intracellular signal transduction (GO:0035556)|mammary placode formation (GO:0060596)|pattern specification process (GO:0007389)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	growth factor activity (GO:0008083)|receptor tyrosine kinase binding (GO:0030971)|transmembrane receptor protein tyrosine kinase activator activity (GO:0030297)	p.V655I(1)|p.V458I(1)		breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(41)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	69				GBM - Glioblastoma multiforme(1;2.5e-18)|all cancers(1;2.85e-09)		ACTGGCCAGCGTAGAAACCGA	0.473																																						ENST00000372142.2																			2	Substitution - Missense(2)	p.V655I(1)|p.V458I(1)	prostate(2)	breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(41)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						c.(1372-1374)Gta>Ata		neuregulin 3		G	ILE/VAL,ILE/VAL,ILE/VAL	10,4396	16.8+/-37.8	0,10,2193	75	70	71		1963,1960,1372	3.7	1	10	dbSNP_134	71	0,8600		0,0,4300	yes	missense,missense,missense	NRG3	NM_001010848.3,NM_001165972.1,NM_001165973.1	29,29,29	0,10,6493	AA,AG,GG		0.0,0.227,0.0769	benign,benign,benign	655/697,654/696,458/500	84745233	10,12996	2203	4300	6503	SO:0001583	missense	10718				regulation of cell growth	extracellular region|integral to plasma membrane	growth factor activity|receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity	g.chr10:84745233G>A	AK098823	CCDS31233.1, CCDS53547.1	10q22-q23	2003-09-09			ENSG00000185737	ENSG00000185737			7999	protein-coding gene	gene with protein product		605533				9275162	Standard	NM_001010848		Approved		uc001kco.2	P56975	OTTHUMG00000018626	ENST00000404547.1:c.2035G>A	10.37:g.84745233G>A	ENSP00000384796:p.Val679Ile					NRG3_ENST00000556918.1_Missense_Mutation_p.V485I|NRG3_ENST00000372141.2_Missense_Mutation_p.V655I|NRG3_ENST00000404547.1_Missense_Mutation_p.V679I|NRG3_ENST00000545131.1_Missense_Mutation_p.V305I|NRG3_ENST00000404576.2_Missense_Mutation_p.V459I|NRG3_ENST00000537893.1_Missense_Mutation_p.V305I	p.V458I	NM_001165973.1	NP_001159445.1	P56975	NRG3_HUMAN		GBM - Glioblastoma multiforme(1;2.5e-18)|all cancers(1;2.85e-09)	11	1646	+			679					A4D7U1|Q0PEH2|Q5VYH3	Missense_Mutation	SNP	ENST00000404547.1	37	c.1372G>A	CCDS31233.1	.	.	.	.	.	.	.	.	.	.	G	12.20	1.867655	0.32977	0.00227	0.0	ENSG00000185737	ENST00000372141;ENST00000404547;ENST00000537287;ENST00000372142;ENST00000404576;ENST00000556918;ENST00000545131;ENST00000537893	T;T;T;T;T;T;T	0.50277	1.38;1.37;1.36;0.75;1.32;0.83;0.83	5.54	3.67	0.42095	.	0.586784	0.17414	N	0.175071	T	0.30916	0.0780	L	0.34521	1.04	0.29478	N	0.856538	B;P;B;P	0.35982	0.004;0.531;0.017;0.531	B;B;B;B	0.28465	0.003;0.09;0.004;0.09	T	0.21008	-1.0258	10	0.49607	T	0.09	-23.7473	7.0275	0.24948	0.2795:0.0:0.7205:0.0	.	654;679;458;655	B9EGV5;P56975;P56975-3;P56975-4	.;NRG3_HUMAN;.;.	I	655;679;654;458;459;485;305;305	ENSP00000361214:V655I;ENSP00000384796:V679I;ENSP00000361215:V458I;ENSP00000385804:V459I;ENSP00000451376:V485I;ENSP00000441201:V305I;ENSP00000440377:V305I	ENSP00000361214:V655I	V	+	1	0	NRG3	84735213	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	1.281000	0.33214	0.687000	0.31509	0.655000	0.94253	GTA		0.473	NRG3-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000412262.1	XM_166086		45	52	0	0	0	0.840704	0	45	52					A	84745233	G	A	84745233	3	1	24	1	0	0	0	0	1	0	0	0	10649	1145	40	1	2241	1	NRG3	10	84745233	Missense_Mutation	SNP	G	TCGA-CH-5752-01A-11D-1576-08	67712798	84745233	50789514	42	1035											
ZNF518A	9849	broad.mit.edu	37	chr10	97916435	97916435	+	RNA	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtctgcaaaaatactcaattTcagctgtttaaaatgccgag	14	12	7	8	1	3	0	2	0	1	0	3	1	3	0	1	0	4	3	1	0	6	4			TCGA-CH-5752-01A-11D-1576-08	TCGA-CH-5752-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f691ec8f-d3dd-4385-bc02-c29254d37c37	12e9a8b5-35d2-401b-aa04-653ab14c2331	g.chr10:97916435T>G	ENST00000534948.1	+	0	1213							Q6AHZ1	Z518A_HUMAN	zinc finger protein 518A						transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.F119C(2)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|urinary_tract(2)	24		Colorectal(252;0.0815)		Epithelial(162;4.23e-08)|all cancers(201;1.85e-06)		ATACTCAATTTCAGCTGTTTA	0.388																																						ENST00000534948.1																			2	Substitution - Missense(2)	p.F119C(2)	prostate(2)	breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|urinary_tract(2)	24								zinc finger protein 518A							116	113	114					10																	97916435		1853	4093	5946			9849				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr10:97916435T>G	AB002333	CCDS73170.1	10q23.33	2012-08-08	2007-12-07	2007-12-07	ENSG00000177853	ENSG00000177853		"Zinc fingers, C2H2-type"	29009	protein-coding gene	gene with protein product			"zinc finger protein 518"	ZNF518		9205841	Standard	NM_014803		Approved	KIAA0335	uc001klp.3	Q6AHZ1	OTTHUMG00000018828		10.37:g.97916435T>G										Q6AHZ1	Z518A_HUMAN		Epithelial(162;4.23e-08)|all cancers(201;1.85e-06)	0	1213	+		Colorectal(252;0.0815)						A0PJI5|O15044|Q32MP4	RNA	SNP	ENST00000534948.1	37																																																																																						0.388	ZNF518A-202	KNOWN	basic	processed_transcript	processed_transcript		NM_014803		13	277	0	0	0	0.435327	0	13	277					G	97916435	T	G	97916435	1	3	24	0	1	0	0	0	0	0	0	0	17959	1783	62	5		5	ZNF518A	10	97916435	RNA	SNP	T	TCGA-CH-5752-01A-11D-1576-08	13171202	97916435	37618312	43	1036											
DAK	26007	broad.mit.edu	37	chr11	61111398	61111398	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	actgggcggaagcggagccgGgtagcccctgccgagcccca	7	3	16	15	4	0	0	0	0	0	0	0	3	0	2	6	4	5	1	6	4	2	1			TCGA-CH-5752-01A-11D-1576-08	TCGA-CH-5752-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f691ec8f-d3dd-4385-bc02-c29254d37c37	12e9a8b5-35d2-401b-aa04-653ab14c2331	g.chr11:61111398G>A	ENST00000394900.3	+	12	1282	c.1053G>A	c.(1051-1053)cgG>cgA	p.R351R		NM_015533.3	NP_056348.2	Q3LXA3	DHAK_HUMAN	dihydroxyacetone kinase 2 homolog (S. cerevisiae)	351					carbohydrate phosphorylation (GO:0046835)|cellular carbohydrate metabolic process (GO:0044262)|glycerol metabolic process (GO:0006071)|innate immune response (GO:0045087)|regulation of innate immune response (GO:0045088)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|FAD-AMP lyase (cyclizing) activity (GO:0034012)|glycerone kinase activity (GO:0004371)|metal ion binding (GO:0046872)|triokinase activity (GO:0050354)	p.R351R(1)		NS(1)|breast(3)|endometrium(3)|large_intestine(5)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	23						AGCGGAGCCGGGTAGCCCCTG	0.602																																						ENST00000394900.3																			1	Substitution - coding silent(1)	p.R351R(1)	prostate(1)	NS(1)|breast(3)|endometrium(3)|large_intestine(5)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	23						c.(1051-1053)cgG>cgA		dihydroxyacetone kinase 2 homolog (S. cerevisiae)							46	55	52					11																	61111398		2203	4299	6502	SO:0001819	synonymous_variant	26007				glycerol metabolic process	cytosol	ATP binding|FAD-AMP lyase (cyclizing) activity|glycerone kinase activity|metal ion binding	g.chr11:61111398G>A		CCDS8003.1	11q12.2	2009-11-06	2006-04-04		ENSG00000149476	ENSG00000149476			24552	protein-coding gene	gene with protein product		615844	"dihydroxyacetone kinase 2 homolog (yeast)"				Standard	XM_005273898		Approved	DKFZP586B1621, NET45	uc001nre.3	Q3LXA3	OTTHUMG00000168076	ENST00000394900.3:c.1053G>A	11.37:g.61111398G>A							p.R351R	NM_015533.3	NP_056348.2	Q3LXA3	DHAK_HUMAN			12	1282	+			351					Q2L9C1|Q53EQ9|Q9BVA7|Q9H895	Silent	SNP	ENST00000394900.3	37	c.1053G>A	CCDS8003.1																																																																																				0.602	DAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394425.4	NM_015533		6	85	0	0	0	0.27861	0	6	85					A	61111398	G	A	61111398	2	1	24	1	0	0	0	0	0	0	0	1	4228	1219	43	3		3	DAK	11	61111398	Silent	SNP	G	TCGA-CH-5752-01A-11D-1576-08		61111398	73895118	44	1037											
FAT3	120114	broad.mit.edu	37	chr11	92568131	92568131	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggggcaccccagctctcagcGctgtggccactgtcaacatc	7	7	11	16	1	2	0	2	0	1	0	4	0	2	0	3	3	3	3	3	3	1	0	rs572769099		TCGA-CH-5752-01A-11D-1576-08	TCGA-CH-5752-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f691ec8f-d3dd-4385-bc02-c29254d37c37	12e9a8b5-35d2-401b-aa04-653ab14c2331	g.chr11:92568131G>A	ENST00000298047.6	+	14	9984	c.9967G>A	c.(9967-9969)Gct>Act	p.A3323T	FAT3_ENST00000409404.2_Missense_Mutation_p.A3323T|FAT3_ENST00000525166.1_Missense_Mutation_p.A3173T			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	3323	Cadherin 30. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.A3323T(2)		NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				AGCTCTCAGCGCTGTGGCCAC	0.498										TCGA Ovarian(4;0.039)			G|||	1	0.000199681	0	0	5008	,	,		16658	0		0	False		,,,				2504	0.001					ENST00000298047.6																			2	Substitution - Missense(2)	p.A3323T(2)	prostate(2)	NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85						c.(9967-9969)Gct>Act		FAT atypical cadherin 3							45	46	46					11																	92568131		1945	4139	6084	SO:0001583	missense	120114				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr11:92568131G>A	AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"Cadherins / Cadherin-related"	23112	protein-coding gene	gene with protein product	"cadherin-related family member 10"	612483	"FAT tumor suppressor homolog 3 (Drosophila)"			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.9967G>A	11.37:g.92568131G>A	ENSP00000298047:p.Ala3323Thr	TCGA Ovarian(4;0.039)				FAT3_ENST00000525166.1_Missense_Mutation_p.A3173T|FAT3_ENST00000409404.2_Missense_Mutation_p.A3323T	p.A3323T			Q8TDW7	FAT3_HUMAN			14	9984	+		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)	3323			Cadherin 30.		B5MDB0|Q96AU6	Missense_Mutation	SNP	ENST00000298047.6	37	c.9967G>A		.	.	.	.	.	.	.	.	.	.	G	14.72	2.618557	0.46736	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000525166	T;T;T	0.03181	4.02;4.02;4.02	5.46	3.56	0.40772	.	.	.	.	.	T	0.03136	0.0092	N	0.21448	0.665	0.80722	D	1	B	0.19817	0.039	B	0.15870	0.014	T	0.49934	-0.8886	9	0.41790	T	0.15	.	9.8021	0.40770	0.0736:0.0:0.7862:0.1402	.	3323	Q8TDW7-3	.	T	3323;3323;3173	ENSP00000298047:A3323T;ENSP00000387040:A3323T;ENSP00000432586:A3173T	ENSP00000298047:A3323T	A	+	1	0	FAT3	92207779	1.000000	0.71417	0.072000	0.20136	0.900000	0.52787	4.843000	0.62838	0.630000	0.30394	0.655000	0.94253	GCT		0.498	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781		17	17	0	0	0	0.500413	0	17	17					A	92568131	G	A	92568131	3	1	24	1	0	0	0	0	1	0	0	0	5691	1087	38	1	10021	1	FAT3	11	92568131	Missense_Mutation	SNP	G	TCGA-CH-5752-01A-11D-1576-08	31456733	92568131	42438385	45	1038											
CDKN1B	1027	broad.mit.edu	37	chr12	12870803	12870803	+	Frame_Shift_Del	DEL	C	C	-																															gtgcgagtgtctaacgggagCcctagcctggagcggatgga																										TCGA-CH-5752-01A-11D-1576-08	TCGA-CH-5752-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f691ec8f-d3dd-4385-bc02-c29254d37c37	12e9a8b5-35d2-401b-aa04-653ab14c2331	g.chr12:12870803delC	ENST00000228872.4	+	1	746	c.30delC	c.(28-30)agcfs	p.S10fs	CDKN1B_ENST00000396340.1_Frame_Shift_Del_p.S10fs|CDKN1B_ENST00000477087.1_Intron	NM_004064.3	NP_004055.1	P46527	CDN1B_HUMAN	cyclin-dependent kinase inhibitor 1B (p27, Kip1)	10					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|autophagic cell death (GO:0048102)|cell cycle arrest (GO:0007050)|cellular response to antibiotic (GO:0071236)|cellular response to lithium ion (GO:0071285)|cellular response to organic cyclic compound (GO:0071407)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G1/S transition of mitotic cell cycle (GO:0000082)|innate immune response (GO:0045087)|inner ear development (GO:0048839)|mitotic cell cycle (GO:0000278)|mitotic cell cycle arrest (GO:0071850)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cellular component movement (GO:0051271)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|negative regulation of kinase activity (GO:0033673)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of phosphorylation (GO:0042326)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell death (GO:0010942)|positive regulation of cell proliferation (GO:0008284)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of protein catabolic process (GO:0045732)|potassium ion transport (GO:0006813)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|response to amino acid (GO:0043200)|response to cadmium ion (GO:0046686)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to glucose (GO:0009749)|response to hypoxia (GO:0001666)|response to peptide hormone (GO:0043434)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|protein phosphatase binding (GO:0019903)|transforming growth factor beta receptor, cytoplasmic mediator activity (GO:0005072)			breast(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(5)	13		Prostate(47;0.0322)|all_epithelial(100;0.159)		BRCA - Breast invasive adenocarcinoma(232;0.0336)		CTAACGGGAGCCCTAGCCTGG	0.607																																						ENST00000228872.4																			0				breast(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(5)	13						c.(28-30)agfs		cyclin-dependent kinase inhibitor 1B (p27, Kip1)							39	48	45					12																	12870803		2203	4297	6500	SO:0001589	frameshift_variant	1027				autophagic cell death|cell cycle arrest|cellular response to lithium ion|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of transcription, DNA-dependent|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of protein catabolic process|S phase of mitotic cell cycle	cytosol|endosome|nucleoplasm	cyclin-dependent protein kinase inhibitor activity|protein phosphatase binding|transforming growth factor beta receptor, cytoplasmic mediator activity	g.chr12:12870803delC	AF480891	CCDS8653.1	12p13.1-p12	2008-08-04			ENSG00000111276	ENSG00000111276			1785	protein-coding gene	gene with protein product		600778				8033212	Standard	NM_004064		Approved	KIP1, P27KIP1	uc001rat.2	P46527	OTTHUMG00000149914	ENST00000228872.4:c.30delC	12.37:g.12870803delC	ENSP00000228872:p.Ser10fs					CDKN1B_ENST00000477087.1_Intron|CDKN1B_ENST00000396340.1_Frame_Shift_Del_p.S10fs	p.S10fs	NM_004064.3	NP_004055.1	P46527	CDN1B_HUMAN		BRCA - Breast invasive adenocarcinoma(232;0.0336)	1	746	+		Prostate(47;0.0322)|all_epithelial(100;0.159)	10					Q16307|Q5U0H2|Q9BUS6	Frame_Shift_Del	DEL	ENST00000228872.4	37	c.30delC	CCDS8653.1																																																																																				0.607	CDKN1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313878.2	NM_004064		10	77						10	77	---	---	---	---	-	12870803	C	-	12870803	7	5	24	1	0	1	0	1	0	0	0	0	3159	738	26	0	32	0	CDKN1B	12	12870803	Frame_Shift_Del	DEL	C	TCGA-CH-5752-01A-11D-1576-08		12870803	120981092	46	1039											
ARID2	196528	broad.mit.edu	37	chr12	46246234	46246241	+	Frame_Shift_Del	DEL	GTGGTACT	GTGGTACT	-																															tgcggcaacacagcaatttaGtggtactgatttgcttaatg																										TCGA-CH-5752-01A-11D-1576-08	TCGA-CH-5752-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f691ec8f-d3dd-4385-bc02-c29254d37c37	12e9a8b5-35d2-401b-aa04-653ab14c2331	g.chr12:46246234_46246241delGTGGTACT	ENST00000334344.6	+	15	4500_4507	c.4328_4335delGTGGTACT	c.(4327-4335)agtggtactfs	p.SGT1443fs	ARID2_ENST00000479608.1_3'UTR|ARID2_ENST00000457135.1_Frame_Shift_Del_p.SGT51fs|ARID2_ENST00000444670.1_Frame_Shift_Del_p.SGT1053fs|ARID2_ENST00000422737.1_Frame_Shift_Del_p.SGT1294fs	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	1443					chromatin modification (GO:0016568)|nucleosome disassembly (GO:0006337)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		CAGCAATTTAGTGGTACTGATTTGCTTA	0.418			"N, S, F"		hepatocellular carcinoma																																	ENST00000334344.6				Rec	yes		12	12q12	196528	"N, S, F"	AT rich interactive domain 2			E			hepatocellular carcinoma		0				NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116						c.(4327-4335)afs		AT rich interactive domain 2 (ARID, RFX-like)																																				SO:0001589	frameshift_variant	196528				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr12:46246234_46246241delGTGGTACT		CCDS31783.1	12q13.11	2013-02-07			ENSG00000189079	ENSG00000189079		"-"	18037	protein-coding gene	gene with protein product		609539					Standard	NM_152641		Approved	KIAA1557, DKFZp686G052, FLJ30619, BAF200	uc001ros.1	Q68CP9	OTTHUMG00000150487	ENST00000334344.6:c.4328_4335delGTGGTACT	12.37:g.46246234_46246241delGTGGTACT	ENSP00000335044:p.Ser1443fs					ARID2_ENST00000479608.1_3'UTR|ARID2_ENST00000422737.1_Frame_Shift_Del_p.SGT1294fs|ARID2_ENST00000444670.1_Frame_Shift_Del_p.SGT1053fs|ARID2_ENST00000457135.1_Frame_Shift_Del_p.SGT51fs	p.SGT1443fs	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)	15	4500_4507	+	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	1443					Q15KG9|Q5EB51|Q645I3|Q6ZRY5|Q7Z3I5|Q86T28|Q96SJ6|Q9HCL5	Frame_Shift_Del	DEL	ENST00000334344.6	37	c.4328_4335delGTGGTACT	CCDS31783.1																																																																																				0.418	ARID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318380.2	XM_350875		67	315						67	315	---	---	---	---	-	46246241	GTGGTACT	-	46246234	7	5	24	1	0	1	0	1	0	0	0	0	915	1029	36	0	4386	0	ARID2	12	46246234	Frame_Shift_Del	DEL	GTGGTACT	TCGA-CH-5752-01A-11D-1576-08	33375431	46246234	87605661	47	1040											
MLL2	8085	broad.mit.edu	37	chr12	49420423	49420423	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caaaatggtagacattggggCaacgcatgcgattgcagctg	12	8	13	8	2	0	1	0	0	0	1	0	2	0	1	0	3	4	5	0	3	4	3			TCGA-CH-5752-01A-11D-1576-08	TCGA-CH-5752-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f691ec8f-d3dd-4385-bc02-c29254d37c37	12e9a8b5-35d2-401b-aa04-653ab14c2331	g.chr12:49420423C>A	ENST00000301067.7	-	48	15325	c.15326G>T	c.(15325-15327)tGc>tTc	p.C5109F		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	5109			C -> F (in KABUK1). {ECO:0000269|PubMed:20711175}.		chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.C5109F(1)|p.C4839F(1)									GACATTGGGGCAACGCATGCG	0.547																																						ENST00000301067.7																			2	Substitution - Missense(2)	p.C5109F(1)|p.C4839F(1)	prostate(2)								c.(15325-15327)tGc>tTc		lysine (K)-specific methyltransferase 2D							67	68	68					12																	49420423		2163	4254	6417	SO:0001583	missense	8085							g.chr12:49420423C>A	AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	7133	protein-coding gene	gene with protein product		602113	"trinucleotide repeat containing 21", "myeloid/lymphoid or mixed-lineage leukemia 2"	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.15326G>T	12.37:g.49420423C>A	ENSP00000301067:p.Cys5109Phe						p.C5109F	NM_003482.3	NP_003473.3					48	15325	-								O14687	Missense_Mutation	SNP	ENST00000301067.7	37	c.15326G>T	CCDS44873.1	.	.	.	.	.	.	.	.	.	.	C	12.75	2.032824	0.35893	.	.	ENSG00000167548	ENST00000301067	D	0.94330	-3.4	4.77	4.77	0.60923	Zinc finger, RING-type (1);Zinc finger, PHD-type (1);	0.000000	0.39909	N	0.001227	D	0.97826	0.9286	H	0.96269	3.795	0.80722	D	1	D	0.76494	0.999	D	0.91635	0.999	D	0.99271	1.0893	10	0.87932	D	0	.	16.9322	0.86193	0.0:1.0:0.0:0.0	.	5109	O14686	MLL2_HUMAN	F	5109	ENSP00000301067:C5109F	ENSP00000301067:C5109F	C	-	2	0	MLL2	47706690	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.818000	0.86416	2.377000	0.81083	0.561000	0.74099	TGC		0.547	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2			33	71	1	0	2.08457e-15	0.750413	2.5389e-15	33	71					A	49420423	C	A	49420423	3	1	24	1	0	0	0	0	1	0	0	0	9621	710	25	5	1315	5	MLL2	12	49420423	Missense_Mutation	SNP	C	TCGA-CH-5752-01A-11D-1576-08	3174189	49420423	84431472	48	1041											
C12orf26	84190	broad.mit.edu	37	chr12	82792603	82792603	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ttgggttccggtaaaggctaCctaagctcttttttgtcctt	6	17	9	9	1	1	0	0	0	1	0	3	0	3	0	3	3	2	4	3	3	4	9			TCGA-CH-5752-01A-11D-1576-08	TCGA-CH-5752-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f691ec8f-d3dd-4385-bc02-c29254d37c37	12e9a8b5-35d2-401b-aa04-653ab14c2331	g.chr12:82792603C>A	ENST00000248306.3	+	4	630	c.561C>A	c.(559-561)taC>taA	p.Y187*	METTL25_ENST00000547357.1_3'UTR	NM_032230.2	NP_115606.2	Q8N6Q8	MET25_HUMAN	methyltransferase like 25	187							methyltransferase activity (GO:0008168)	p.Y187*(1)									GTAAAGGCTACCTAAGCTCTT	0.318																																						ENST00000248306.3																			1	Substitution - Nonsense(1)	p.Y187*(1)	prostate(1)								c.(559-561)taC>taA		methyltransferase like 25							39	40	40					12																	82792603		2203	4299	6502	SO:0001587	stop_gained	84190							g.chr12:82792603C>A	BC029120	CCDS9024.1	12q21.31	2012-08-13	2012-08-13	2012-08-13	ENSG00000127720	ENSG00000127720			26228	protein-coding gene	gene with protein product			"chromosome 12 open reading frame 26"	C12orf26			Standard	NM_032230		Approved	FLJ22789	uc001szq.3	Q8N6Q8	OTTHUMG00000170252	ENST00000248306.3:c.561C>A	12.37:g.82792603C>A	ENSP00000248306:p.Tyr187*					METTL25_ENST00000547357.1_3'UTR	p.Y187*	NM_032230.2	NP_115606.2					4	630	+								Q9H5Y3	Nonsense_Mutation	SNP	ENST00000248306.3	37	c.561C>A	CCDS9024.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.02|16.02	3.004457|3.004457	0.54254|0.54254	.|.	.|.	ENSG00000127720|ENSG00000127720	ENST00000550058|ENST00000248306;ENST00000548200	.|.	.|.	.|.	5.43|5.43	-0.443|-0.443	0.12249|0.12249	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|.	0.23766|.	0.0575|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.41627|.	-0.9498|.	3|.	.|0.02654	.|T	.|1	-11.3673|-11.3673	12.1424|12.1424	0.54005|0.54005	0.0:0.5649:0.0:0.4351|0.0:0.5649:0.0:0.4351	.|.	.|.	.|.	.|.	N|X	146|187	.|.	.|ENSP00000248306:Y187X	T|Y	+|+	2|3	0|2	C12orf26|C12orf26	81316734|81316734	1.000000|1.000000	0.71417|0.71417	0.989000|0.989000	0.46669|0.46669	0.875000|0.875000	0.50365|0.50365	0.884000|0.884000	0.28214|0.28214	-0.263000|-0.263000	0.09378|0.09378	-1.974000|-1.974000	0.00461|0.00461	ACC|TAC		0.318	METTL25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408192.1	NM_032230		6	103	1	0	0.0293803	0.248553	0.032082	6	103					A	82792603	C	A	82792603	4	1	24	1	0	0	0	0	0	1	0	0	1679	518	18	5	575	5	C12orf26	12	82792603	Nonsense_Mutation	SNP	C	TCGA-CH-5752-01A-11D-1576-08	33372180	82792603	51059292	49	1042											
LHX5	64211	broad.mit.edu	37	chr12	113909233	113909233	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaacacatttgatgtgccacGcgcggtccagcacgttcagc	9	8	11	13	4	1	1	1	1	0	0	2	2	2	1	2	1	4	2	2	1	1	2			TCGA-CH-5752-01A-11D-1576-08	TCGA-CH-5752-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f691ec8f-d3dd-4385-bc02-c29254d37c37	12e9a8b5-35d2-401b-aa04-653ab14c2331	g.chr12:113909233G>A	ENST00000261731.3	-	1	644	c.71C>T	c.(70-72)gCg>gTg	p.A24V	LHX5_ENST00000557836.1_5'Flank|RP11-82C23.2_ENST00000551357.2_RNA	NM_022363.2	NP_071758.1	Q9H2C1	LHX5_HUMAN	LIM homeobox 5	24	LIM zinc-binding 1. {ECO:0000255|PROSITE- ProRule:PRU00125}.				cell proliferation in forebrain (GO:0021846)|cerebellar Purkinje cell differentiation (GO:0021702)|cerebellar Purkinje cell-granule cell precursor cell signaling involved in regulation of granule cell precursor cell proliferation (GO:0021937)|forebrain neuron differentiation (GO:0021879)|hippocampus development (GO:0021766)|positive regulation of transcription, DNA-templated (GO:0045893)|spinal cord association neuron differentiation (GO:0021527)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)	p.A24V(1)		NS(1)|endometrium(2)|large_intestine(1)|lung(4)|prostate(1)|skin(1)	10						GATGTGCCACGCGCGGTCCAG	0.612																																						ENST00000261731.3																			1	Substitution - Missense(1)	p.A24V(1)	prostate(1)	NS(1)|endometrium(2)|large_intestine(1)|lung(4)|prostate(1)|skin(1)	10						c.(70-72)gCg>gTg		LIM homeobox 5							43	34	37					12																	113909233		2203	4300	6503	SO:0001583	missense	64211					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr12:113909233G>A	AF291181	CCDS9171.1	12q24.13	2014-01-15			ENSG00000089116	ENSG00000089116		"Homeoboxes / LIM class"	14216	protein-coding gene	gene with protein product		605992					Standard	NM_022363		Approved		uc001tvj.1	Q9H2C1	OTTHUMG00000169552	ENST00000261731.3:c.71C>T	12.37:g.113909233G>A	ENSP00000261731:p.Ala24Val						p.A24V	NM_022363.2	NP_071758.1	Q9H2C1	LHX5_HUMAN			1	644	-			24			LIM zinc-binding 1.		Q32MA4	Missense_Mutation	SNP	ENST00000261731.3	37	c.71C>T	CCDS9171.1	.	.	.	.	.	.	.	.	.	.	G	33	5.215834	0.95104	.	.	ENSG00000089116	ENST00000261731	D	0.86956	-2.19	4.04	4.04	0.47022	Zinc finger, LIM-type (5);	0.000000	0.48767	D	0.000163	D	0.84028	0.5382	L	0.31845	0.965	0.80722	D	1	P	0.44344	0.833	P	0.47162	0.54	T	0.81682	-0.0822	10	0.20519	T	0.43	.	16.3982	0.83630	0.0:0.0:1.0:0.0	.	24	Q9H2C1	LHX5_HUMAN	V	24	ENSP00000261731:A24V	ENSP00000261731:A24V	A	-	2	0	LHX5	112393616	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.783000	0.85696	2.084000	0.62774	0.491000	0.48974	GCG		0.612	LHX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404788.3	NM_022363		3	16	0	0	0	0.115264	0	3	16					A	113909233	G	A	113909233	3	1	24	1	0	0	0	0	1	0	0	0	8774	1087	38	1	1157	1	LHX5	12	113909233	Missense_Mutation	SNP	G	TCGA-CH-5752-01A-11D-1576-08	31116630	113909233	19942662	50	1043											
SCARB1	949	broad.mit.edu	37	chr12	125348169	125348169	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctgctgcttgatgagcgacGgcaccatcacgatcatgaca	10	8	10	13	3	2	3	2	3	0	0	2	5	2	3	2	1	3	3	2	1	0	1			TCGA-CH-5752-01A-11D-1576-08	TCGA-CH-5752-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f691ec8f-d3dd-4385-bc02-c29254d37c37	12e9a8b5-35d2-401b-aa04-653ab14c2331	g.chr12:125348169G>C	ENST00000415380.2	-	1	223	c.98C>G	c.(97-99)cCg>cGg	p.P33R	SCARB1_ENST00000261693.6_Missense_Mutation_p.P33R|SCARB1_ENST00000376788.1_Missense_Mutation_p.P33R|SCARB1_ENST00000546215.1_Missense_Mutation_p.P33R|SCARB1_ENST00000339570.5_Missense_Mutation_p.P33R|SCARB1_ENST00000535005.1_Intron			Q8WTV0	SCRB1_HUMAN	scavenger receptor class B, member 1	33					adhesion of symbiont to host (GO:0044406)|androgen biosynthetic process (GO:0006702)|blood vessel endothelial cell migration (GO:0043534)|cell adhesion (GO:0007155)|cholesterol catabolic process (GO:0006707)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol import (GO:0070508)|detection of lipopolysaccharide (GO:0032497)|endothelial cell proliferation (GO:0001935)|high-density lipoprotein particle clearance (GO:0034384)|high-density lipoprotein particle remodeling (GO:0034375)|lipopolysaccharide transport (GO:0015920)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|lipoprotein metabolic process (GO:0042157)|low-density lipoprotein particle clearance (GO:0034383)|phospholipid transport (GO:0015914)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of triglyceride biosynthetic process (GO:0010867)|receptor-mediated endocytosis (GO:0006898)|recognition of apoptotic cell (GO:0043654)|regulation of phagocytosis (GO:0050764)|regulation of phosphatidylcholine catabolic process (GO:0010899)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)|triglyceride homeostasis (GO:0070328)|viral process (GO:0016032)|wound healing (GO:0042060)	caveola (GO:0005901)|cell surface (GO:0009986)|endocytic vesicle membrane (GO:0030666)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|microvillus membrane (GO:0031528)|plasma membrane (GO:0005886)	1-phosphatidylinositol binding (GO:0005545)|apolipoprotein A-I binding (GO:0034186)|apolipoprotein binding (GO:0034185)|high-density lipoprotein particle binding (GO:0008035)|high-density lipoprotein particle receptor activity (GO:0070506)|lipopolysaccharide binding (GO:0001530)|lipopolysaccharide receptor activity (GO:0001875)|low-density lipoprotein particle binding (GO:0030169)|phosphatidylserine binding (GO:0001786)|transporter activity (GO:0005215)	p.P33R(2)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(7)|prostate(1)	17	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000116)|Epithelial(86;0.000415)|all cancers(50;0.00395)	Phosphatidylserine(DB00144)	GATGAGCGACGGCACCATCAC	0.716																																						ENST00000339570.5																			2	Substitution - Missense(2)	p.P33R(2)	prostate(2)	endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(7)|prostate(1)	17						c.(97-99)cCg>cGg		scavenger receptor class B, member 1	Phosphatidylserine(DB00144)						26	23	24					12																	125348169		2201	4300	6501	SO:0001583	missense	949				adhesion to symbiont|cell adhesion|cholesterol efflux|cholesterol homeostasis|cholesterol import|detection of lipopolysaccharide|high-density lipoprotein particle clearance|high-density lipoprotein particle remodeling|lipopolysaccharide transport|lipoprotein metabolic process|positive regulation of cholesterol storage|positive regulation of endothelial cell migration|positive regulation of nitric-oxide synthase activity|recognition of apoptotic cell|reverse cholesterol transport|triglyceride homeostasis|wound healing	caveola	1-phosphatidylinositol binding|apolipoprotein A-I binding|high-density lipoprotein particle receptor activity|lipopolysaccharide receptor activity|low-density lipoprotein particle binding|phosphatidylserine binding|transporter activity	g.chr12:125348169G>C	Z22555	CCDS9259.1, CCDS45008.1	12q24.32	2008-08-05	2002-09-06	2002-09-06	ENSG00000073060	ENSG00000073060			1664	protein-coding gene	gene with protein product		601040	"CD36 antigen (collagen type I receptor, thrombospondin receptor)-like 1"	CD36L1		7689561	Standard	NM_001082959		Approved	SRB1, CLA-1, CLA1, SR-BI	uc001ugm.4	Q8WTV0	OTTHUMG00000168544	ENST00000415380.2:c.98C>G	12.37:g.125348169G>C	ENSP00000414979:p.Pro33Arg					SCARB1_ENST00000376788.1_Missense_Mutation_p.P33R|SCARB1_ENST00000535005.1_Intron|SCARB1_ENST00000546215.1_Missense_Mutation_p.P33R|SCARB1_ENST00000415380.2_Missense_Mutation_p.P33R|SCARB1_ENST00000261693.6_Missense_Mutation_p.P33R	p.P33R	NM_001082959.1	NP_001076428.1	Q8WTV0	SCRB1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000116)|Epithelial(86;0.000415)|all cancers(50;0.00395)	1	294	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		33					F8W8N0|Q14016|Q52LZ5|Q6KFX4	Missense_Mutation	SNP	ENST00000415380.2	37	c.98C>G		.	.	.	.	.	.	.	.	.	.	G	15.75	2.924904	0.52759	.	.	ENSG00000073060	ENST00000339570;ENST00000415380;ENST00000261693;ENST00000376788;ENST00000546215;ENST00000545493	T;T;T;D;T;T	0.86297	-0.76;-0.76;-0.76;-2.1;-0.76;-0.76	3.3	3.3	0.37823	.	0.000000	0.85682	U	0.000000	D	0.92100	0.7496	M	0.79614	2.46	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.87578	0.997;0.998;0.998;0.995;0.992	D	0.92129	0.5710	10	0.59425	D	0.04	-12.7663	10.7759	0.46350	0.0:0.0:1.0:0.0	.	33;33;33;33;33	B7ZKQ9;B4E3I1;Q8WTV0;F8W8N0;Q8WTV0-2	.;.;SCRB1_HUMAN;.;.	R	33	ENSP00000343795:P33R;ENSP00000414979:P33R;ENSP00000261693:P33R;ENSP00000365984:P33R;ENSP00000442862:P33R;ENSP00000443454:P33R	ENSP00000261693:P33R	P	-	2	0	SCARB1	123914122	0.983000	0.35010	0.998000	0.56505	0.143000	0.21401	3.058000	0.49939	1.778000	0.52293	0.185000	0.17295	CCG		0.716	SCARB1-006	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000400165.1	NM_005505		3	15	0	0	0	0.115264	0	3	15					C	125348169	G	C	125348169	3	2	24	1	0	0	0	0	1	0	0	0	13881	1116	39	5	1603	5	SCARB1	12	125348169	Missense_Mutation	SNP	G	TCGA-CH-5752-01A-11D-1576-08	11438936	125348169	8503726	51	1044											
TPTE2	93492	broad.mit.edu	37	chr13	20024290	20024290	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actcatttacttccttggtgAaaaccaccatctcactgatt	11	14	4	12	0	2	2	2	2	1	0	4	2	3	2	3	1	2	0	3	1	3	5			TCGA-CH-5752-01A-11D-1576-08	TCGA-CH-5752-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f691ec8f-d3dd-4385-bc02-c29254d37c37	12e9a8b5-35d2-401b-aa04-653ab14c2331	g.chr13:20024290A>G	ENST00000400230.2	-	13	943	c.899T>C	c.(898-900)tTc>tCc	p.F300S	TPTE2_ENST00000390680.2_Missense_Mutation_p.F223S|TPTE2_ENST00000457266.2_Missense_Mutation_p.F189S|TPTE2_ENST00000382977.4_Missense_Mutation_p.F300S|TPTE2_ENST00000382978.1_Missense_Mutation_p.F260S|TPTE2_ENST00000400103.2_Missense_Mutation_p.F189S|TPTE2_ENST00000255310.6_Missense_Mutation_p.F223S|TPTE2_ENST00000382975.4_Missense_Mutation_p.F260S			Q6XPS3	TPTE2_HUMAN	transmembrane phosphoinositide 3-phosphatase and tensin homolog 2	300	Phosphatase tensin-type. {ECO:0000255|PROSITE-ProRule:PRU00590}.				phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	ion channel activity (GO:0005216)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.F300S(1)|p.F223S(1)		NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)		TTCCTTGGTGAAAACCACCAT	0.323																																						ENST00000400230.2																			2	Substitution - Missense(2)	p.F300S(1)|p.F223S(1)	prostate(2)	NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						c.(898-900)tTc>tCc		transmembrane phosphoinositide 3-phosphatase and tensin homolog 2							42	44	43					13																	20024290		2193	4277	6470	SO:0001583	missense	93492					endoplasmic reticulum membrane|integral to membrane	ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr13:20024290A>G	AJ421032	CCDS9285.1, CCDS45013.1, CCDS45014.1	13q12.11	2012-12-10			ENSG00000132958	ENSG00000132958		"Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"	17299	protein-coding gene	gene with protein product		606791				11716755, 12717346, 15057823	Standard	NM_130785		Approved	TPIP	uc001umd.3	Q6XPS3	OTTHUMG00000016493	ENST00000400230.2:c.899T>C	13.37:g.20024290A>G	ENSP00000383089:p.Phe300Ser					TPTE2_ENST00000390680.2_Missense_Mutation_p.F223S|TPTE2_ENST00000457266.2_Missense_Mutation_p.F189S|TPTE2_ENST00000255310.6_Missense_Mutation_p.F223S|TPTE2_ENST00000382977.4_Missense_Mutation_p.F300S|TPTE2_ENST00000400103.2_Missense_Mutation_p.F189S|TPTE2_ENST00000382975.4_Missense_Mutation_p.F260S|TPTE2_ENST00000382978.1_Missense_Mutation_p.F260S	p.F300S			Q6XPS3	TPTE2_HUMAN		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)	13	943	-		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)	300			Phosphatase tensin-type.		A1A4X0|A1A4X1|A8MX64|B1AQ16|B4DWZ2|Q5VUH2|Q8WWL4|Q8WWL5	Missense_Mutation	SNP	ENST00000400230.2	37	c.899T>C	CCDS45014.1	.	.	.	.	.	.	.	.	.	.	a	11.02	1.515285	0.27123	.	.	ENSG00000132958	ENST00000382978;ENST00000400103;ENST00000400230;ENST00000255310;ENST00000390680;ENST00000382977;ENST00000382975;ENST00000457266;ENST00000343548;ENST00000419256	D;D;D;D;D;D;D;D	0.98958	-5.27;-5.27;-5.27;-5.27;-5.27;-5.27;-5.27;-5.27	2.79	1.6	0.23607	Phosphatase tensin type (1);Dual specificity phosphatase, catalytic domain (1);	0.186835	0.47852	D	0.000201	D	0.98960	0.9646	M	0.91768	3.24	0.09310	N	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.80764	0.991;0.994;0.991	D	0.95562	0.8630	9	.	.	.	-13.261	6.3107	0.21163	0.8675:0.0:0.1325:0.0	.	189;223;300	A8MX64;Q6XPS3-3;Q6XPS3	.;.;TPTE2_HUMAN	S	260;189;300;223;223;300;260;189;300;169	ENSP00000372438:F260S;ENSP00000382974:F189S;ENSP00000383089:F300S;ENSP00000255310:F223S;ENSP00000375098:F223S;ENSP00000372437:F300S;ENSP00000372435:F260S;ENSP00000442218:F189S	.	F	-	2	0	TPTE2	18922290	1.000000	0.71417	0.001000	0.08648	0.001000	0.01503	3.464000	0.53057	0.482000	0.27582	-0.480000	0.04831	TTC		0.323	TPTE2-205	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_199254		11	185	0	0	0	0.500413	0	11	185					G	20024290	A	G	20024290	3	3	24	1	0	0	0	0	1	0	0	0	16428	246	9	4	701	4	TPTE2	13	20024290	Missense_Mutation	SNP	A	TCGA-CH-5752-01A-11D-1576-08		20024290	95145588	52	1045											
USP12	219333	broad.mit.edu	37	chr13	27649444	27649444	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actacccggtaagagagtttTgtatatcgatgaagttgatc	12	13	10	6	2	0	3	0	2	0	1	2	5	0	3	1	1	1	4	1	1	5	7			TCGA-CH-5752-01A-11D-1576-08	TCGA-CH-5752-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f691ec8f-d3dd-4385-bc02-c29254d37c37	12e9a8b5-35d2-401b-aa04-653ab14c2331	g.chr13:27649444T>A	ENST00000282344.6	-	7	1072	c.816A>T	c.(814-816)acA>acT	p.T272T		NM_182488.3	NP_872294.2	O75317	UBP12_HUMAN	ubiquitin specific peptidase 12	272	USP.				protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type endopeptidase activity (GO:0004197)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)	p.T272T(1)		breast(3)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Lung SC(185;0.0161)		all cancers(112;0.0508)|GBM - Glioblastoma multiforme(144;0.168)|Epithelial(112;0.244)|OV - Ovarian serous cystadenocarcinoma(117;0.246)		AAGAGAGTTTTGTATATCGAT	0.358																																					Ovarian(37;808 911 7590 44442 44991)	ENST00000282344.6																			1	Substitution - coding silent(1)	p.T272T(1)	prostate(1)	breast(3)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						c.(814-816)acA>acT		ubiquitin specific peptidase 12							64	61	62					13																	27649444		2203	4300	6503	SO:0001819	synonymous_variant	219333				protein deubiquitination|ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr13:27649444T>A	AL049221	CCDS31952.1	13q12.13	2010-05-12	2005-08-08	2003-10-08	ENSG00000152484	ENSG00000152484		"Ubiquitin-specific peptidases"	20485	protein-coding gene	gene with protein product			"ubiquitin specific protease 12 like 1", "ubiquitin specific protease 12"	USP12L1		12838346	Standard	NM_182488		Approved		uc001uqy.3	O75317	OTTHUMG00000016626	ENST00000282344.6:c.816A>T	13.37:g.27649444T>A							p.T272T	NM_182488.3	NP_872294.2	O75317	UBP12_HUMAN		all cancers(112;0.0508)|GBM - Glioblastoma multiforme(144;0.168)|Epithelial(112;0.244)|OV - Ovarian serous cystadenocarcinoma(117;0.246)	7	1072	-		Lung SC(185;0.0161)	272					A8K0X0|Q5VZV3|Q8TC49	Silent	SNP	ENST00000282344.6	37	c.816A>T	CCDS31952.1																																																																																				0.358	USP12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044264.1	NM_182488		42	61	0	0	0	0.819951	0	42	61					A	27649444	T	A	27649444	2	1	24	1	0	0	0	0	0	0	0	1	17040	1799	63	5		5	USP12	13	27649444	Silent	SNP	T	TCGA-CH-5752-01A-11D-1576-08	7625154	27649444	87520434	53	1046											
PARP2	10038	broad.mit.edu	37	chr14	20822982	20822982	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ctgcagggaagctgacagtgGcacaaatcaaggcaggttac	13	6	13	9	0	1	1	1	1	0	0	1	2	1	2	0	4	3	5	0	4	4	1			TCGA-CH-5752-01A-11D-1576-08	TCGA-CH-5752-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f691ec8f-d3dd-4385-bc02-c29254d37c37	12e9a8b5-35d2-401b-aa04-653ab14c2331	g.chr14:20822982G>A	ENST00000250416.5	+	9	844	c.817G>A	c.(817-819)Gca>Aca	p.A273T	PARP2_ENST00000429687.3_Missense_Mutation_p.A260T|PARP2_ENST00000527915.1_Missense_Mutation_p.A273T	NM_001042618.1|NM_005484.3	NP_001036083.1|NP_005475.2	Q9UGN5	PARP2_HUMAN	poly (ADP-ribose) polymerase 2	273	PARP alpha-helical. {ECO:0000255|PROSITE- ProRule:PRU00398}.				base-excision repair (GO:0006284)|DNA repair (GO:0006281)|extrinsic apoptotic signaling pathway (GO:0097191)|protein ADP-ribosylation (GO:0006471)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|NAD+ ADP-ribosyltransferase activity (GO:0003950)	p.A273T(1)|p.A224T(1)		central_nervous_system(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)	15	all_cancers(95;0.00092)	all_lung(585;0.235)	Epithelial(56;5.34e-07)|all cancers(55;3.7e-06)	GBM - Glioblastoma multiforme(265;0.00888)|READ - Rectum adenocarcinoma(17;0.0649)		GCTGACAGTGGCACAAATCAA	0.468								Poly(ADP-ribose) polymerase (PARP) enzymes that bind to DNA																														ENST00000527915.1																			2	Substitution - Missense(2)	p.A273T(1)|p.A224T(1)	kidney(2)	central_nervous_system(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)	15						c.(817-819)Gca>Aca	Poly(ADP-ribose) polymerase (PARP) enzymes that bind to DNA	poly (ADP-ribose) polymerase 2							129	129	129					14																	20822982		1981	4164	6145	SO:0001583	missense	10038				protein ADP-ribosylation	nucleolus|nucleoplasm	DNA binding|NAD+ ADP-ribosyltransferase activity	g.chr14:20822982G>A	AF085734	CCDS41910.1, CCDS45077.1	14q11.2-q12	2010-02-16	2008-07-28	2004-08-26	ENSG00000129484	ENSG00000129484		"Poly (ADP-ribose) polymerases"	272	protein-coding gene	gene with protein product		607725	"ADP-ribosyltransferase (NAD+; poly(ADP-ribose) polymerase)-like 2", "poly (ADP-ribose) polymerase family, member 2"	ADPRTL2		10329013, 18353725	Standard	NM_005484		Approved		uc001vxc.3	Q9UGN5	OTTHUMG00000166106	ENST00000250416.5:c.817G>A	14.37:g.20822982G>A	ENSP00000250416:p.Ala273Thr					PARP2_ENST00000250416.5_Missense_Mutation_p.A273T|PARP2_ENST00000429687.3_Missense_Mutation_p.A260T	p.A273T			Q9UGN5	PARP2_HUMAN	Epithelial(56;5.34e-07)|all cancers(55;3.7e-06)	GBM - Glioblastoma multiforme(265;0.00888)|READ - Rectum adenocarcinoma(17;0.0649)	9	822	+	all_cancers(95;0.00092)	all_lung(585;0.235)	273			PARP alpha-helical.		Q8TEU4|Q9NUV2|Q9UMR4|Q9Y6C8	Missense_Mutation	SNP	ENST00000250416.5	37	c.817G>A	CCDS41910.1	.	.	.	.	.	.	.	.	.	.	G	18.83	3.706676	0.68615	.	.	ENSG00000129484	ENST00000429687;ENST00000250416;ENST00000527915	T;T;T	0.11604	2.76;2.76;2.76	5.18	4.27	0.50696	Poly(ADP-ribose) polymerase, regulatory domain (4);	0.179769	0.47852	D	0.000215	T	0.08268	0.0206	L	0.33189	0.99	0.47245	D	0.999364	P;P;P	0.42161	0.772;0.562;0.591	B;B;B	0.38194	0.267;0.049;0.158	T	0.33085	-0.9882	10	0.14656	T	0.56	-5.6768	13.1418	0.59438	0.0802:0.0:0.9198:0.0	.	186;260;273	B4DV82;Q9UGN5-2;Q9UGN5	.;.;PARP2_HUMAN	T	260;273;273	ENSP00000392972:A260T;ENSP00000250416:A273T;ENSP00000432283:A273T	ENSP00000250416:A273T	A	+	1	0	PARP2	19892822	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.061000	0.64319	2.694000	0.91930	0.655000	0.94253	GCA		0.468	PARP2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000387847.2			4	264	0	0	0	0.217242	0	4	264					A	20822982	G	A	20822982	3	1	24	1	0	0	0	0	1	0	0	0	11461	1203	42	3	851	3	PARP2	14	20822982	Missense_Mutation	SNP	G	TCGA-CH-5752-01A-11D-1576-08		20822982	86526558	54	1047											
C14orf135	64430	broad.mit.edu	37	chr14	60591549	60591549	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attaggataccctgctgttgAcaaaggaaaacaagaggaca	17	7	10	7	0	0	2	0	1	0	1	0	5	0	5	1	3	3	2	1	3	6	3			TCGA-CH-5752-01A-11D-1576-08	TCGA-CH-5752-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f691ec8f-d3dd-4385-bc02-c29254d37c37	12e9a8b5-35d2-401b-aa04-653ab14c2331	g.chr14:60591549A>G	ENST00000406854.1	+	9	3214	c.2660A>G	c.(2659-2661)gAc>gGc	p.D887G	PCNXL4_ENST00000406949.1_Missense_Mutation_p.D653G|PCNXL4_ENST00000535349.1_Missense_Mutation_p.D94G|PCNXL4_ENST00000317623.4_Missense_Mutation_p.D653G|PCNXL4_ENST00000404681.2_Missense_Mutation_p.D887G			Q63HM2	PCX4_HUMAN	pecanex-like 4 (Drosophila)	887						integral component of membrane (GO:0016021)		p.D653G(1)|p.D887G(1)									CCTGCTGTTGACAAAGGAAAA	0.438																																						ENST00000406854.1																			2	Substitution - Missense(2)	p.D653G(1)|p.D887G(1)	prostate(2)								c.(2659-2661)gAc>gGc		pecanex-like 4 (Drosophila)							123	130	128					14																	60591549		2203	4300	6503	SO:0001583	missense	64430							g.chr14:60591549A>G	AK022861		14q23.1	2012-07-18	2012-07-18	2012-07-18	ENSG00000126773	ENSG00000126773			20349	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 135"	C14orf135			Standard	NM_022495		Approved		uc001xer.4	Q63HM2	OTTHUMG00000150361	ENST00000406854.1:c.2660A>G	14.37:g.60591549A>G	ENSP00000384801:p.Asp887Gly					PCNXL4_ENST00000404681.2_Missense_Mutation_p.D887G|PCNXL4_ENST00000317623.4_Missense_Mutation_p.D653G|PCNXL4_ENST00000535349.1_Missense_Mutation_p.D94G|PCNXL4_ENST00000406949.1_Missense_Mutation_p.D653G	p.D887G							9	3214	+								A8MXM2|Q9BQG8|Q9H9F2	Missense_Mutation	SNP	ENST00000406854.1	37	c.2660A>G		.	.	.	.	.	.	.	.	.	.	A	13.98	2.397405	0.42512	.	.	ENSG00000126773	ENST00000317623;ENST00000406854;ENST00000406949;ENST00000404681;ENST00000535349	T;T;T;T;T	0.40756	1.43;1.46;1.39;1.46;1.02	4.99	3.84	0.44239	.	0.131302	0.64402	D	0.000002	T	0.40979	0.1139	M	0.65975	2.015	0.80722	D	1	B;B	0.26577	0.153;0.125	B;B	0.27076	0.076;0.028	T	0.45041	-0.9288	10	0.56958	D	0.05	.	10.3322	0.43829	0.9219:0.0:0.0781:0.0	.	887;653	Q63HM2;B5MC47	CN135_HUMAN;.	G	653;887;653;887;94	ENSP00000317396:D653G;ENSP00000384801:D887G;ENSP00000385201:D653G;ENSP00000385713:D887G;ENSP00000445644:D94G	ENSP00000317396:D653G	D	+	2	0	C14orf135	59661302	1.000000	0.71417	0.997000	0.53966	0.720000	0.41350	6.681000	0.74523	1.999000	0.58509	0.254000	0.18369	GAC		0.438	PCNXL4-005	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000317847.1	NM_022495		13	384	0	0	0	0.435327	0	13	384					G	60591549	A	G	60591549	3	3	24	1	0	0	0	0	1	0	0	0	1745	275	10	4	1984	4	C14orf135	14	60591549	Missense_Mutation	SNP	A	TCGA-CH-5752-01A-11D-1576-08	39768567	60591549	46757991	55	1048											
VIPAR	63894	broad.mit.edu	37	chr14	77896064	77896064	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtgcaaaatttcgacaaccCgatggaagccaatgggtgct	12	9	11	9	2	0	0	0	0	0	0	1	3	0	1	2	2	4	2	2	2	5	1	rs200598365		TCGA-CH-5752-01A-11D-1576-08	TCGA-CH-5752-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f691ec8f-d3dd-4385-bc02-c29254d37c37	12e9a8b5-35d2-401b-aa04-653ab14c2331	g.chr14:77896064C>T	ENST00000553888.1	-	17	1736	c.1226G>A	c.(1225-1227)cGg>cAg	p.R409Q	VIPAS39_ENST00000557658.1_Missense_Mutation_p.R409Q|VIPAS39_ENST00000327028.4_Missense_Mutation_p.R396Q|VIPAS39_ENST00000343765.2_Missense_Mutation_p.R409Q|VIPAS39_ENST00000448935.2_Missense_Mutation_p.R360Q|VIPAS39_ENST00000556412.1_Missense_Mutation_p.R435Q	NM_001193314.1|NM_001193317.1|NM_022067.3	NP_001180243.1|NP_001180246.1|NP_071350.2	Q9H9C1	SPE39_HUMAN	VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog	409					cell differentiation (GO:0030154)|endosome to lysosome transport (GO:0008333)|intracellular protein transport (GO:0006886)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|late endosome (GO:0005770)|recycling endosome (GO:0055037)		p.R409Q(1)									TTCGACAACCCGATGGAAGCC	0.502																																						ENST00000553888.1																			1	Substitution - Missense(1)	p.R409Q(1)	prostate(1)								c.(1225-1227)cGg>cAg		VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog							215	202	206					14																	77896064		2203	4300	6503	SO:0001583	missense	63894							g.chr14:77896064C>T	AK022925	CCDS9862.1, CCDS53905.1	14q24.3-q31	2013-08-14	2012-07-24	2012-07-24	ENSG00000151445	ENSG00000151445			20347	protein-coding gene	gene with protein product	"VPS33B interacting protein, apical-basolateral polarity regulator"	613401	"chromosome 14 open reading frame 133"	C14orf133		20190753, 19109425, 22753090, 23002115, 23918659	Standard	NM_022067		Approved	VIPAR, VPS16B, SPE-39, SPE39, hSPE-39	uc001xtu.2	Q9H9C1		ENST00000553888.1:c.1226G>A	14.37:g.77896064C>T	ENSP00000452181:p.Arg409Gln					VIPAS39_ENST00000448935.2_Missense_Mutation_p.R360Q|VIPAS39_ENST00000327028.4_Missense_Mutation_p.R396Q|VIPAS39_ENST00000343765.2_Missense_Mutation_p.R409Q|VIPAS39_ENST00000557658.1_Missense_Mutation_p.R409Q|VIPAS39_ENST00000556412.1_Missense_Mutation_p.R435Q	p.R409Q	NM_001193314.1|NM_001193317.1|NM_022067.3	NP_001180243.1|NP_001180246.1|NP_071350.2					17	1736	-								B4DPI6|O95434|Q9H7E1|Q9H9I9	Missense_Mutation	SNP	ENST00000553888.1	37	c.1226G>A	CCDS9862.1	.	.	.	.	.	.	.	.	.	.	C	36	5.648077	0.96714	.	.	ENSG00000151445	ENST00000343765;ENST00000553888;ENST00000327028;ENST00000557658;ENST00000448935;ENST00000556412	T;T;T;T;T;T	0.55760	0.5;0.5;0.5;0.5;0.5;0.5	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	T	0.61185	0.2327	M	0.66939	2.045	0.80722	D	1	P;D	0.54601	0.922;0.967	B;P	0.49665	0.429;0.618	T	0.58509	-0.7624	10	0.28530	T	0.3	-12.1488	18.2507	0.90002	0.0:1.0:0.0:0.0	.	360;409	B4DPI6;Q9H9C1	.;VIPAR_HUMAN	Q	409;409;396;409;360;435	ENSP00000339122:R409Q;ENSP00000452181:R409Q;ENSP00000313098:R396Q;ENSP00000452191:R409Q;ENSP00000404815:R360Q;ENSP00000451857:R435Q	ENSP00000313098:R396Q	R	-	2	0	VIPAR	76965817	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.286000	0.78671	2.608000	0.88229	0.655000	0.94253	CGG		0.502	VIPAS39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414008.1	NM_022067		25	414	0	0	0	0.667858	0	25	414					T	77896064	C	T	77896064	3	4	24	1	0	0	0	0	1	0	0	0	17165	652	23	2	271	2	VIPAR	14	77896064	Missense_Mutation	SNP	C	TCGA-CH-5752-01A-11D-1576-08	17304515	77896064	29453476	56	1049											
TECPR2	9895	broad.mit.edu	37	chr14	102891314	102891314	+	Splice_Site	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tctttctttcttctaattttAgtactgggaaatttggtgct	7	21	7	6	0	4	0	0	0	4	0	4	1	4	1	0	2	2	2	0	2	4	8			TCGA-CH-5752-01A-11D-1576-08	TCGA-CH-5752-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f691ec8f-d3dd-4385-bc02-c29254d37c37	12e9a8b5-35d2-401b-aa04-653ab14c2331	g.chr14:102891314A>T	ENST00000359520.7	+	6	864		c.e6-1		TECPR2_ENST00000561228.1_Intron|TECPR2_ENST00000558678.1_Splice_Site	NM_014844.3	NP_055659.2	O15040	TCPR2_HUMAN	tectonin beta-propeller repeat containing 2						autophagy (GO:0006914)|cell death (GO:0008219)			p.?(1)		breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(21)|ovary(2)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	50						TTCTAATTTTAGTACTGGGAA	0.383																																						ENST00000359520.7																			1	Unknown(1)	p.?(1)	prostate(1)	breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(21)|ovary(2)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	50						c.e6-1		tectonin beta-propeller repeat containing 2							65	75	71					14																	102891314		2196	4298	6494	SO:0001630	splice_region_variant	9895						protein binding	g.chr14:102891314A>T	AB019441	CCDS32162.1, CCDS58337.1	14q32.33	2009-02-27	2009-02-27	2009-02-27		ENSG00000196663			19957	protein-coding gene	gene with protein product		615000	"KIAA0329"	KIAA0329		9205841	Standard	NM_014844		Approved		uc001ylw.2	O15040		ENST00000359520.7:c.639-1A>T	14.37:g.102891314A>T						TECPR2_ENST00000558678.1_Splice_Site|TECPR2_ENST00000561228.1_Intron		NM_014844.3	NP_055659.2	O15040	TCPR2_HUMAN			6	864	+								A5PKY3|A6NFY9|A7E2X3|H0YMM9|Q9UEG6	Splice_Site	SNP	ENST00000359520.7	37		CCDS32162.1	.	.	.	.	.	.	.	.	.	.	a	21.3	4.123248	0.77436	.	.	ENSG00000196663	ENST00000359520;ENST00000380088	.	.	.	5.18	5.18	0.71444	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.0521	0.71881	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	TECPR2	101961067	1.000000	0.71417	0.859000	0.33776	0.993000	0.82548	8.068000	0.89490	1.959000	0.56917	0.451000	0.29950	.		0.383	TECPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415056.2	NM_014844	Intron	4	137	0	0	0	0.150653	0	4	137					T	102891314	A	T	102891314	5	4	24	1	0	0	0	0	0	0	1	0	15741	434	15	5	655	5	TECPR2	14	102891314	Splice_Site	SNP	A	TCGA-CH-5752-01A-11D-1576-08	24995250	102891314	4458226	57	1050											
MARK3	4140	broad.mit.edu	37	chr14	103918266	103918266	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctcccgcagtgaagttattcGaagtcattgaaactgaaaaa	15	10	8	8	2	1	3	1	3	0	0	3	4	2	3	1	0	1	2	1	0	6	3			TCGA-CH-5752-01A-11D-1576-08	TCGA-CH-5752-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f691ec8f-d3dd-4385-bc02-c29254d37c37	12e9a8b5-35d2-401b-aa04-653ab14c2331	g.chr14:103918266G>A	ENST00000429436.2	+	5	868	c.358G>A	c.(358-360)Gaa>Aaa	p.E120K	MARK3_ENST00000303622.9_Missense_Mutation_p.E120K|MARK3_ENST00000335102.5_Missense_Mutation_p.E120K|MARK3_ENST00000561071.1_3'UTR|MARK3_ENST00000416682.2_Missense_Mutation_p.E120K|MARK3_ENST00000216288.7_Missense_Mutation_p.E120K|MARK3_ENST00000440884.3_Missense_Mutation_p.E120K|MARK3_ENST00000553942.1_Missense_Mutation_p.E120K	NM_001128918.1|NM_001128919.1	NP_001122390.1|NP_001122391.1	P27448	MARK3_HUMAN	MAP/microtubule affinity-regulating kinase 3	120	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.					plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.E120K(4)		autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30		Melanoma(154;0.155)	Epithelial(46;0.241)			GAAGTTATTCGAAGTCATTGA	0.353																																						ENST00000429436.2																			4	Substitution - Missense(4)	p.E120K(4)	prostate(2)|ovary(1)|large_intestine(1)	autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						c.(358-360)Gaa>Aaa		MAP/microtubule affinity-regulating kinase 3							171	168	169					14																	103918266		1851	4107	5958	SO:0001583	missense	4140						ATP binding|protein binding|protein serine/threonine kinase activity	g.chr14:103918266G>A	M80359	CCDS41993.1, CCDS45165.1, CCDS45166.1, CCDS45167.1, CCDS55947.1	14q32.32	2014-04-07			ENSG00000075413	ENSG00000075413			6897	protein-coding gene	gene with protein product		602678				9533022	Standard	NM_002376		Approved	CTAK1, KP78, PAR-1A	uc001ymz.4	P27448	OTTHUMG00000171789	ENST00000429436.2:c.358G>A	14.37:g.103918266G>A	ENSP00000411397:p.Glu120Lys					MARK3_ENST00000561071.1_3'UTR|MARK3_ENST00000303622.9_Missense_Mutation_p.E120K|MARK3_ENST00000440884.3_Missense_Mutation_p.E120K|MARK3_ENST00000216288.7_Missense_Mutation_p.E120K|MARK3_ENST00000335102.5_Missense_Mutation_p.E120K|MARK3_ENST00000416682.2_Missense_Mutation_p.E120K|MARK3_ENST00000553942.1_Missense_Mutation_p.E120K	p.E120K	NM_001128918.1|NM_001128919.1	NP_001122390.1|NP_001122391.1	P27448	MARK3_HUMAN	Epithelial(46;0.241)		5	868	+		Melanoma(154;0.155)	120			Protein kinase.		O60219|Q86TT8|Q8TB41|Q8WX83|Q96RG1|Q9UMY9|Q9UN34	Missense_Mutation	SNP	ENST00000429436.2	37	c.358G>A	CCDS45165.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.086533	0.76642	.	.	ENSG00000075413	ENST00000335102;ENST00000440884;ENST00000416682;ENST00000429436;ENST00000303622;ENST00000216288;ENST00000553942	T;T;T;T;T;T;T	0.26223	1.75;3.07;1.75;1.75;1.75;1.75;1.75	5.89	5.89	0.94794	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.53449	0.1797	M	0.70108	2.13	0.80722	D	1	D;D;D;D;D;D	0.89917	0.998;1.0;1.0;1.0;1.0;1.0	P;D;D;D;D;D	0.87578	0.903;0.997;0.998;0.998;0.993;0.996	T	0.51957	-0.8639	10	0.72032	D	0.01	.	19.0276	0.92939	0.0:0.0:1.0:0.0	.	120;120;120;120;120;120	P27448-2;P27448-6;P27448;Q86TT8;P27448-4;P27448-3	.;.;MARK3_HUMAN;.;.;.	K	120	ENSP00000335347:E120K;ENSP00000402104:E120K;ENSP00000408092:E120K;ENSP00000411397:E120K;ENSP00000303698:E120K;ENSP00000216288:E120K;ENSP00000450772:E120K	ENSP00000216288:E120K	E	+	1	0	MARK3	102988019	1.000000	0.71417	0.999000	0.59377	0.020000	0.10135	8.655000	0.91098	2.797000	0.96272	0.563000	0.77884	GAA		0.353	MARK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415144.1	NM_001128918		26	337	0	0	0	0.693898	0	26	337					A	103918266	G	A	103918266	3	1	24	1	0	0	0	0	1	0	0	0	9314	1059	37	2	376	2	MARK3	14	103918266	Missense_Mutation	SNP	G	TCGA-CH-5752-01A-11D-1576-08	1026952	103918266	3431274	58	1051											
TJP1	7082	broad.mit.edu	37	chr15	30025006	30025006	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagtgtatactgtacactggCtagctgctcagctctacaca	11	11	8	11	0	2	0	1	0	1	0	2	0	2	0	0	1	6	6	0	1	6	5			TCGA-CH-5752-01A-11D-1576-08	TCGA-CH-5752-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f691ec8f-d3dd-4385-bc02-c29254d37c37	12e9a8b5-35d2-401b-aa04-653ab14c2331	g.chr15:30025006C>A	ENST00000346128.6	-	14	2224	c.1750G>T	c.(1750-1752)Gcc>Tcc	p.A584S	TJP1_ENST00000356107.6_Missense_Mutation_p.A584S|TJP1_ENST00000400011.2_Missense_Mutation_p.A588S|TJP1_ENST00000545208.2_Missense_Mutation_p.A584S	NM_003257.3|NM_175610.2	NP_003248.3|NP_783297.2	Q07157	ZO1_HUMAN	tight junction protein 1	584	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				apoptotic process (GO:0006915)|blastocyst formation (GO:0001825)|cell-cell junction assembly (GO:0007043)|cell-cell signaling involved in cell-cell junction organization (GO:1901350)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to glucose stimulus (GO:0071333)|hippo signaling (GO:0035329)|membrane organization (GO:0061024)|negative regulation of vascular permeability (GO:0043116)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to lipopolysaccharide (GO:0032496)|response to magnetism (GO:0071000)|sensory perception of sound (GO:0007605)	apical junction complex (GO:0043296)|apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|apicolateral plasma membrane (GO:0016327)|basolateral plasma membrane (GO:0016323)|cell junction (GO:0030054)|cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|gap junction (GO:0005921)|intercalated disc (GO:0014704)|intercellular canaliculus (GO:0046581)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)		p.A584S(1)		breast(4)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(1)	68		all_lung(180;7.48e-11)|Breast(32;0.000153)		all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186)		TGTACACTGGCTAGCTGCTCA	0.403																																					Melanoma(77;681 1843 6309 6570)	ENST00000346128.6																			1	Substitution - Missense(1)	p.A584S(1)	prostate(1)	breast(4)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(1)	68						c.(1750-1752)Gcc>Tcc		tight junction protein 1							37	36	36					15																	30025006		1833	4089	5922	SO:0001583	missense	7082				cell-cell junction assembly|cellular component disassembly involved in apoptosis	basolateral plasma membrane|cell-cell adherens junction|Golgi apparatus|tight junction		g.chr15:30025006C>A		CCDS42007.1, CCDS45199.1, CCDS73702.1	15q13	2012-07-12	2012-07-12		ENSG00000104067	ENSG00000104067			11827	protein-coding gene	gene with protein product	"zona occludens 1", "tight junction protein ZO-1"	601009				8825647	Standard	XM_005254616		Approved	ZO-1, MGC133289, DKFZp686M05161	uc001zcr.3	Q07157	OTTHUMG00000137397	ENST00000346128.6:c.1750G>T	15.37:g.30025006C>A	ENSP00000281537:p.Ala584Ser					TJP1_ENST00000356107.6_Missense_Mutation_p.A584S|TJP1_ENST00000400011.2_Missense_Mutation_p.A588S|TJP1_ENST00000545208.2_Missense_Mutation_p.A584S	p.A584S	NM_003257.3|NM_175610.2	NP_003248.3|NP_783297.2	Q07157	ZO1_HUMAN		all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186)	14	2224	-		all_lung(180;7.48e-11)|Breast(32;0.000153)	584			SH3.		B4E3K1|Q2NKP3|Q4ZGJ6	Missense_Mutation	SNP	ENST00000346128.6	37	c.1750G>T	CCDS42007.1	.	.	.	.	.	.	.	.	.	.	C	16.67	3.188857	0.57909	.	.	ENSG00000104067	ENST00000346128;ENST00000400011;ENST00000545208;ENST00000400007;ENST00000356107	T;T;T;T	0.17370	2.28;2.28;2.28;2.28	5.73	5.73	0.89815	Src homology-3 domain (2);	0.050125	0.85682	D	0.000000	T	0.35038	0.0918	M	0.88842	2.985	0.80722	D	1	B;B;B;B	0.24092	0.089;0.097;0.089;0.065	B;B;B;B	0.32393	0.088;0.144;0.145;0.073	T	0.18493	-1.0335	9	.	.	.	.	20.27	0.98469	0.0:1.0:0.0:0.0	.	577;584;584;588	A9CQZ8;Q07157-2;Q07157;G5E9E7	.;.;ZO1_HUMAN;.	S	584;588;584;584;584	ENSP00000281537:A584S;ENSP00000382890:A588S;ENSP00000441202:A584S;ENSP00000348416:A584S	.	A	-	1	0	TJP1	27812298	1.000000	0.71417	0.985000	0.45067	0.965000	0.64279	5.962000	0.70364	2.854000	0.98071	0.655000	0.94253	GCC		0.403	TJP1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000268237.3	NM_003257		40	45	1	0	7.63091e-17	0.834066	9.53864e-17	40	45					A	30025006	C	A	30025006	3	1	24	1	0	0	0	0	1	0	0	0	15926	797	28	5	3556	5	TJP1	15	30025006	Missense_Mutation	SNP	C	TCGA-CH-5752-01A-11D-1576-08		30025006	72506386	59	1052											
ARHGAP11B	89839	broad.mit.edu	37	chr15	30925726	30925726	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gcttgcacatctttagaagaAcatattcataccgaagggct	13	11	8	9	1	2	2	1	0	1	2	2	3	2	2	1	1	3	3	1	1	6	6			TCGA-CH-5752-01A-11D-1576-08	TCGA-CH-5752-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f691ec8f-d3dd-4385-bc02-c29254d37c37	12e9a8b5-35d2-401b-aa04-653ab14c2331	g.chr15:30925726A>C	ENST00000428041.2	+	3	379	c.234A>C	c.(232-234)gaA>gaC	p.E78D		NM_001039841.1	NP_001034930.1	Q3KRB8	RHGBB_HUMAN	Rho GTPase activating protein 11B	78	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)	p.E78D(1)		endometrium(2)|kidney(1)|large_intestine(3)|lung(1)|prostate(1)	8		all_lung(180;2.71e-09)|Breast(32;0.00116)		all cancers(64;1.9e-15)|Epithelial(43;3.59e-12)|GBM - Glioblastoma multiforme(186;9e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)|Lung(196;0.153)		CTTTAGAAGAACATATTCATA	0.373																																						ENST00000428041.2																			1	Substitution - Missense(1)	p.E78D(1)	prostate(1)	endometrium(2)|kidney(1)|large_intestine(3)|lung(1)|prostate(1)	8						c.(232-234)gaA>gaC		Rho GTPase activating protein 11B							133	127	129					15																	30925726		2202	4300	6502	SO:0001583	missense	89839				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	g.chr15:30925726A>C	BC105788	CCDS32185.1	15q13.2	2011-07-13				ENSG00000187951		"Rho GTPase activating proteins"	15782	protein-coding gene	gene with protein product	"GAP (1-8)"		"family with sequence similarity 7, member B1"	FAM7B1		11829490	Standard	NM_001039841		Approved	B'-T	uc001zet.1	Q3KRB8		ENST00000428041.2:c.234A>C	15.37:g.30925726A>C	ENSP00000392760:p.Glu78Asp						p.E78D	NM_001039841.1	NP_001034930.1	Q3KRB8	RHGBB_HUMAN		all cancers(64;1.9e-15)|Epithelial(43;3.59e-12)|GBM - Glioblastoma multiforme(186;9e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)|Lung(196;0.153)	3	379	+		all_lung(180;2.71e-09)|Breast(32;0.00116)	78			Rho-GAP.			Missense_Mutation	SNP	ENST00000428041.2	37	c.234A>C	CCDS32185.1	.	.	.	.	.	.	.	.	.	.	.	7.909	0.736063	0.15574	.	.	ENSG00000187951	ENST00000428041	T	0.19394	2.15	1.8	-3.05	0.05396	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	0.293559	0.18664	U	0.134624	T	0.11239	0.0274	L	0.27944	0.81	0.21147	N	0.999777	B	0.17038	0.02	B	0.27608	0.081	T	0.37361	-0.9709	10	0.14656	T	0.56	.	7.3639	0.26762	0.4923:0.0:0.5077:0.0	.	78	Q3KRB8	RHGBB_HUMAN	D	78	ENSP00000392760:E78D	ENSP00000392760:E78D	E	+	3	2	ARHGAP11B	28713018	0.936000	0.31750	0.934000	0.37439	0.612000	0.37316	-0.091000	0.11146	-0.925000	0.03775	0.136000	0.15936	GAA		0.373	ARHGAP11B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430729.1	NM_001039841		4	186	0	0	0	0.150653	0	4	186					C	30925726	A	C	30925726	3	2	24	1	0	0	0	0	1	0	0	0	864	40	2	5	244	5	ARHGAP11B	15	30925726	Missense_Mutation	SNP	A	TCGA-CH-5752-01A-11D-1576-08	900720	30925726	71605666	60	1053											
DET1	55070	broad.mit.edu	37	chr15	89074916	89074916	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tggattcttcgaggcttgatGgtagaaacatgatgatccat	11	13	11	6	1	1	4	0	3	1	1	3	6	2	5	1	3	1	2	1	3	2	4			TCGA-CH-5752-01A-11D-1576-08	TCGA-CH-5752-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f691ec8f-d3dd-4385-bc02-c29254d37c37	12e9a8b5-35d2-401b-aa04-653ab14c2331	g.chr15:89074916G>A	ENST00000268148.8	-	2	166	c.21C>T	c.(19-21)acC>acT	p.T7T	DET1_ENST00000564406.1_Silent_p.T18T|DET1_ENST00000559656.1_5'Flank|DET1_ENST00000444300.1_Silent_p.T18T|DET1_ENST00000558413.1_Silent_p.T7T	NM_001144074.1	NP_001137546.1	Q7L5Y6	DET1_HUMAN	de-etiolated homolog 1 (Arabidopsis)	7						nucleus (GO:0005634)		p.T18T(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(10)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	Lung NSC(78;0.105)|all_lung(78;0.182)		BRCA - Breast invasive adenocarcinoma(143;0.188)			GAGGCTTGATGGTAGAAACAT	0.413																																						ENST00000564406.1																			1	Substitution - coding silent(1)	p.T18T(1)	prostate(1)	endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(10)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						c.(52-54)acC>acT		de-etiolated homolog 1 (Arabidopsis)							77	75	75					15																	89074916		1927	4148	6075	SO:0001819	synonymous_variant	55070					nucleus		g.chr15:89074916G>A	BC001242	CCDS45343.1, CCDS45344.1	15q25.3	2004-12-13				ENSG00000140543			25477	protein-coding gene	gene with protein product		608727				14739464	Standard	NM_001144074		Approved	FLJ10103	uc002bmq.2	Q7L5Y6		ENST00000268148.8:c.21C>T	15.37:g.89074916G>A						DET1_ENST00000558413.1_Silent_p.T7T|DET1_ENST00000444300.1_Silent_p.T18T|DET1_ENST00000268148.8_Silent_p.T7T	p.T18T	NM_017996.3	NP_060466.2	Q7L5Y6	DET1_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.188)		3	214	-	Lung NSC(78;0.105)|all_lung(78;0.182)		7					B3KNN6|Q2VPC0|Q9NWD5	Silent	SNP	ENST00000268148.8	37	c.54C>T	CCDS45344.1																																																																																				0.413	DET1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415442.2	NM_017996		3	106	0	0	0	0.115264	0	3	106					A	89074916	G	A	89074916	2	1	24	1	0	0	0	0	0	0	0	1	4450	1335	47	3		3	DET1	15	89074916	Silent	SNP	G	TCGA-CH-5752-01A-11D-1576-08	58149190	89074916	13456476	61	1054											
CRISPLD2	83716	broad.mit.edu	37	chr16	84906612	84906612	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cgccagtcgtctagcatatgCcgcgccgccatccactacgg	7	7	10	17	6	1	0	0	0	1	0	3	0	2	0	5	1	3	1	5	1	3	3			TCGA-CH-5752-01A-11D-1576-08	TCGA-CH-5752-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f691ec8f-d3dd-4385-bc02-c29254d37c37	12e9a8b5-35d2-401b-aa04-653ab14c2331	g.chr16:84906612C>T	ENST00000262424.5	+	10	1220	c.996C>T	c.(994-996)tgC>tgT	p.C332C	CRISPLD2_ENST00000564567.1_Silent_p.C332C|CRISPLD2_ENST00000567845.1_Silent_p.C331C	NM_031476.3	NP_113664.1	Q9H0B8	CRLD2_HUMAN	cysteine-rich secretory protein LCCL domain containing 2	332	LCCL 1. {ECO:0000255|PROSITE- ProRule:PRU00123}.				extracellular matrix organization (GO:0030198)|face morphogenesis (GO:0060325)|lung development (GO:0030324)	extracellular matrix (GO:0031012)|extracellular vesicular exosome (GO:0070062)|transport vesicle (GO:0030133)	heparin binding (GO:0008201)	p.C332C(1)		endometrium(3)|large_intestine(5)|lung(8)|prostate(1)|stomach(1)	18						CTAGCATATGCCGCGCCGCCA	0.542																																						ENST00000262424.5																			1	Substitution - coding silent(1)	p.C332C(1)	prostate(1)	endometrium(3)|large_intestine(5)|lung(8)|prostate(1)|stomach(1)	18						c.(994-996)tgC>tgT		cysteine-rich secretory protein LCCL domain containing 2							104	101	102					16																	84906612		2199	4300	6499	SO:0001819	synonymous_variant	83716					extracellular region|transport vesicle		g.chr16:84906612C>T	AL136861	CCDS10949.1	16q24.1	2008-02-05	2005-02-16	2005-02-16	ENSG00000103196	ENSG00000103196			25248	protein-coding gene	gene with protein product		612434	"LCCL domain containing cysteine-rich secretory protein 2"	LCRISP2		11230166	Standard	NM_031476		Approved	DKFZP434B044	uc010voh.1	Q9H0B8	OTTHUMG00000137644	ENST00000262424.5:c.996C>T	16.37:g.84906612C>T						CRISPLD2_ENST00000564567.1_Silent_p.C332C|CRISPLD2_ENST00000567845.1_Silent_p.C331C	p.C332C	NM_031476.3	NP_113664.1	Q9H0B8	CRLD2_HUMAN			10	1220	+			332			LCCL 1.		D3DUM0|Q6P590|Q6UWH0|Q6UXC6|Q96IB1|Q96K61	Silent	SNP	ENST00000262424.5	37	c.996C>T	CCDS10949.1																																																																																				0.542	CRISPLD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269086.2	NM_031476		5	184	0	0	0	0.184627	0	5	184					T	84906612	C	T	84906612	2	4	24	1	0	0	0	0	0	0	0	1	3883	747	26	3		3	CRISPLD2	16	84906612	Silent	SNP	C	TCGA-CH-5752-01A-11D-1576-08		84906612	5448141	62	1055											
KRTAP3-3	85293	broad.mit.edu	37	chr17	39150166	39150166	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagcaggaagcaggtgggcaCgcagggctgaggaatgtggc	10	4	20	7	1	0	1	0	1	0	0	0	4	0	3	0	6	2	5	0	6	2	0	rs146610892	byFrequency	TCGA-CH-5752-01A-11D-1576-08	TCGA-CH-5752-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f691ec8f-d3dd-4385-bc02-c29254d37c37	12e9a8b5-35d2-401b-aa04-653ab14c2331	g.chr17:39150166C>T	ENST00000391586.1	-	1	219	c.184G>A	c.(184-186)Gtg>Atg	p.V62M		NM_033185.2	NP_149441.1	Q9BYR6	KRA33_HUMAN	keratin associated protein 3-3	62						keratin filament (GO:0045095)	structural molecule activity (GO:0005198)	p.V62M(1)		lung(2)|prostate(2)	4		Breast(137;0.00043)				CAGGTGGGCACGCAGGGCTGA	0.632													C|||	7	0.00139776	0.0053	0	5008	,	,		18411	0		0	False		,,,				2504	0					ENST00000391586.1																			1	Substitution - Missense(1)	p.V62M(1)	prostate(1)	lung(2)|prostate(2)	4						c.(184-186)Gtg>Atg		keratin associated protein 3-3		C	MET/VAL	25,4381	31.7+/-61.6	0,25,2178	107	78	88		184	5.9	1	17	dbSNP_134	88	2,8586	2.2+/-6.3	0,2,4292	no	missense	KRTAP3-3	NM_033185.2	21	0,27,6470	TT,TC,CC		0.0233,0.5674,0.2078	probably-damaging	62/99	39150166	27,12967	2203	4294	6497	SO:0001583	missense	85293					keratin filament	structural molecule activity	g.chr17:39150166C>T	AJ406933	CCDS32643.1	17q21.2	2013-06-25			ENSG00000212899	ENSG00000212899		"Keratin associated proteins"	18890	protein-coding gene	gene with protein product						11279113	Standard	NM_033185		Approved	KAP3.3	uc002hvr.1	Q9BYR6	OTTHUMG00000133591	ENST00000391586.1:c.184G>A	17.37:g.39150166C>T	ENSP00000375428:p.Val62Met						p.V62M	NM_033185.2	NP_149441.1	Q9BYR6	KRA33_HUMAN			1	219	-		Breast(137;0.00043)	62					Q52LP0|Q6NTD4	Missense_Mutation	SNP	ENST00000391586.1	37	c.184G>A	CCDS32643.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.233534	0.79688	0.005674	2.33E-4	ENSG00000212899	ENST00000391586	T	0.32515	1.45	5.89	5.89	0.94794	.	0.000000	0.51477	D	0.000090	T	0.49864	0.1582	.	.	.	0.39246	D	0.963944	D	0.89917	1.0	D	0.91635	0.999	T	0.60156	-0.7318	9	0.87932	D	0	.	15.8129	0.78578	0.0:1.0:0.0:0.0	.	62	Q9BYR6	KRA33_HUMAN	M	62	ENSP00000375428:V62M	ENSP00000375428:V62M	V	-	1	0	KRTAP3-3	36403692	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.511000	0.53400	2.801000	0.96364	0.650000	0.86243	GTG		0.632	KRTAP3-3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257695.1			5	149	0	0	0	0.184627	0	5	149					T	39150166	C	T	39150166	3	4	24	1	0	0	0	0	1	0	0	0	8547	536	19	1	116	1	KRTAP3-3	17	39150166	Missense_Mutation	SNP	C	TCGA-CH-5752-01A-11D-1576-08		39150166	42045044	63	1056											
DHX40	79665	broad.mit.edu	37	chr17	57679935	57679935	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccctaaacatgaagtactacGaagatgtctttgtgcgggct	11	11	10	9	2	1	2	0	1	1	1	1	3	1	2	1	1	4	2	1	1	6	4			TCGA-CH-5752-01A-11D-1576-08	TCGA-CH-5752-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f691ec8f-d3dd-4385-bc02-c29254d37c37	12e9a8b5-35d2-401b-aa04-653ab14c2331	g.chr17:57679935G>A	ENST00000251241.4	+	15	2006	c.1859G>A	c.(1858-1860)cGa>cAa	p.R620Q	DHX40_ENST00000425628.3_Missense_Mutation_p.R543Q|DHX40_ENST00000451169.2_Missense_Mutation_p.R572Q	NM_024612.4	NP_078888.4	Q8IX18	DHX40_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 40	620							ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|nucleic acid binding (GO:0003676)	p.R620Q(3)		endometrium(7)|large_intestine(6)|lung(6)|prostate(1)	20	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)					GAAGTACTACGAAGATGTCTT	0.338																																						ENST00000451169.2																			3	Substitution - Missense(3)	p.R620Q(3)	prostate(2)|large_intestine(1)	endometrium(7)|large_intestine(6)|lung(6)|prostate(1)	20						c.(1714-1716)cGa>cAa		DEAH (Asp-Glu-Ala-His) box polypeptide 40							76	80	78					17																	57679935		2203	4300	6503	SO:0001583	missense	79665						ATP binding|ATP-dependent helicase activity|nucleic acid binding	g.chr17:57679935G>A	AF260270	CCDS11617.1, CCDS54150.1	17q22	2014-01-28	2003-06-13	2003-06-20		ENSG00000108406		"DEAH-boxes"	18018	protein-coding gene	gene with protein product		607570	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 40 (RNA helicase)"	DDX40			Standard	NM_024612		Approved	ARG147, PAD, FLJ22060	uc002ixn.2	Q8IX18		ENST00000251241.4:c.1859G>A	17.37:g.57679935G>A	ENSP00000251241:p.Arg620Gln					DHX40_ENST00000251241.4_Missense_Mutation_p.R620Q|DHX40_ENST00000425628.3_Missense_Mutation_p.R543Q	p.R572Q			Q8IX18	DHX40_HUMAN			18	2074	+	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		620					B3KTJ5|C9JR60|Q5JPH4|Q8TC86|Q8WY53|Q9BXM1|Q9H6M9	Missense_Mutation	SNP	ENST00000251241.4	37	c.1715G>A	CCDS11617.1	.	.	.	.	.	.	.	.	.	.	G	33	5.259773	0.95368	.	.	ENSG00000108406	ENST00000251241;ENST00000538926;ENST00000425628;ENST00000451169	T;T	0.04758	3.94;3.56	5.81	5.81	0.92471	Domain of unknown function DUF1605 (1);	0.000000	0.85682	D	0.000000	T	0.22003	0.0530	M	0.71871	2.18	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.91635	0.997;0.999	T	0.00035	-1.2262	10	0.34782	T	0.22	.	19.4253	0.94739	0.0:0.0:1.0:0.0	.	543;620	F5H625;Q8IX18	.;DHX40_HUMAN	Q	620;543;620;572	ENSP00000251241:R620Q;ENSP00000396039:R572Q	ENSP00000251241:R620Q	R	+	2	0	DHX40	55034717	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.709000	0.68384	2.906000	0.99361	0.655000	0.94253	CGA		0.338	DHX40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446095.1	NM_024612		50	109	0	0	0	0.870114	0	50	109					A	57679935	G	A	57679935	3	1	24	1	0	0	0	0	1	0	0	0	4512	1058	37	2	1917	2	DHX40	17	57679935	Missense_Mutation	SNP	G	TCGA-CH-5752-01A-11D-1576-08	18529769	57679935	23515275	64	1057											
PITPNC1	26207	broad.mit.edu	37	chr17	65688807	65688807	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccccctgctgccttcttccGtccgcagtgcgccttctagt	2	13	8	18	3	2	0	0	0	2	0	5	0	5	0	6	0	3	2	6	0	1	4			TCGA-CH-5752-01A-11D-1576-08	TCGA-CH-5752-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f691ec8f-d3dd-4385-bc02-c29254d37c37	12e9a8b5-35d2-401b-aa04-653ab14c2331	g.chr17:65688807G>A	ENST00000581322.1	+	9	802	c.802G>A	c.(802-804)Gtc>Atc	p.V268I	PITPNC1_ENST00000299954.9_3'UTR|PITPNC1_ENST00000335257.6_Missense_Mutation_p.V268I|PITPNC1_ENST00000580974.1_3'UTR			Q9UKF7	PITC1_HUMAN	phosphatidylinositol transfer protein, cytoplasmic 1	268					phospholipid transport (GO:0015914)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	lipid binding (GO:0008289)|phosphatidylinositol transporter activity (GO:0008526)	p.V268I(2)		breast(1)|kidney(2)|large_intestine(3)|liver(2)|lung(4)|prostate(2)|skin(3)	17	all_cancers(12;3.03e-10)		BRCA - Breast invasive adenocarcinoma(8;2.08e-08)|Colorectal(3;0.198)			GCCTTCTTCCGTCCGCAGTGC	0.557																																						ENST00000335257.6																			2	Substitution - Missense(2)	p.V268I(2)	prostate(1)|lung(1)	breast(1)|kidney(2)|large_intestine(3)|liver(2)|lung(4)|prostate(2)|skin(3)	17						c.(802-804)Gtc>Atc		phosphatidylinositol transfer protein, cytoplasmic 1							121	127	125					17																	65688807		1991	4162	6153	SO:0001583	missense	26207				signal transduction	cytoplasm	lipid binding|phosphatidylinositol transporter activity|protein binding	g.chr17:65688807G>A	AF171102	CCDS58587.1, CCDS58588.1	17q24.3	2008-02-05							21045	protein-coding gene	gene with protein product		605134				10531358	Standard	NM_012417		Approved	RDGBB1, RDGBB, RDGB-BETA	uc002jgc.4	Q9UKF7		ENST00000581322.1:c.802G>A	17.37:g.65688807G>A	ENSP00000464006:p.Val268Ile					PITPNC1_ENST00000580974.1_3'UTR|PITPNC1_ENST00000581322.1_Missense_Mutation_p.V268I|PITPNC1_ENST00000299954.9_3'UTR	p.V268I			Q9UKF7	PITC1_HUMAN	BRCA - Breast invasive adenocarcinoma(8;2.08e-08)|Colorectal(3;0.198)		9	1149	+	all_cancers(12;3.03e-10)		268					A8K473|J3QR20|Q96I07	Missense_Mutation	SNP	ENST00000581322.1	37	c.802G>A	CCDS58588.1	.	.	.	.	.	.	.	.	.	.	G	8.254	0.809691	0.16537	.	.	ENSG00000154217	ENST00000335257	T	0.44083	0.93	5.75	3.59	0.41128	.	0.222920	0.47455	D	0.000223	T	0.16811	0.0404	N	0.03608	-0.345	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.05257	-1.0896	10	0.34782	T	0.22	-1.2887	4.3035	0.10935	0.3704:0.0:0.6296:0.0	.	268	Q9UKF7	PITC1_HUMAN	I	268	ENSP00000335618:V268I	ENSP00000335618:V268I	V	+	1	0	PITPNC1	63119269	1.000000	0.71417	0.882000	0.34594	0.097000	0.18754	4.034000	0.57289	1.451000	0.47736	-0.136000	0.14681	GTC		0.557	PITPNC1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000447194.1	NM_012417		34	153	0	0	0	0.769981	0	34	153					A	65688807	G	A	65688807	3	1	24	1	0	0	0	0	1	0	0	0	11949	1145	40	1	959	1	PITPNC1	17	65688807	Missense_Mutation	SNP	G	TCGA-CH-5752-01A-11D-1576-08	8008872	65688807	15506403	65	1058											
MED16	10025	broad.mit.edu	37	chr19	881676	881676	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagatcgttggtggccgataGgatccgccatttgagaattg	9	11	13	8	3	0	2	0	1	0	2	2	5	1	3	3	3	0	1	3	3	2	4			TCGA-CH-5752-01A-11D-1576-08	TCGA-CH-5752-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f691ec8f-d3dd-4385-bc02-c29254d37c37	12e9a8b5-35d2-401b-aa04-653ab14c2331	g.chr19:881676G>T	ENST00000589119.1	-	6	1023	c.1024C>A	c.(1024-1026)Cta>Ata	p.L342I	MED16_ENST00000395808.3_Missense_Mutation_p.L342I|MED16_ENST00000325464.1_Missense_Mutation_p.L342I|MED16_ENST00000312090.6_Missense_Mutation_p.L342I|MED16_ENST00000269814.4_Missense_Mutation_p.L342I|MED16_ENST00000606828.1_Intron			Q9Y2X0	MED16_HUMAN	mediator complex subunit 16	342					androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of receptor activity (GO:2000273)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	catalytic activity (GO:0003824)|receptor activity (GO:0004872)|thyroid hormone receptor binding (GO:0046966)|thyroid hormone receptor coactivator activity (GO:0030375)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)	p.L342I(1)		NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	21		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GTGGCCGATAGGATCCGCCAT	0.577																																						ENST00000312090.6																			1	Substitution - Missense(1)	p.L342I(1)	prostate(1)	NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	21						c.(1024-1026)Cta>Ata		mediator complex subunit 16							105	95	98					19																	881676		2203	4295	6498	SO:0001583	missense	10025				androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	receptor activity|thyroid hormone receptor binding|thyroid hormone receptor coactivator activity|vitamin D receptor binding	g.chr19:881676G>T	AF121228	CCDS12047.1	19p13.3	2013-01-10	2007-07-30	2007-07-30		ENSG00000175221		"WD repeat domain containing"	17556	protein-coding gene	gene with protein product		604062	"thyroid hormone receptor associated protein 5"	THRAP5		10235266, 10198638	Standard	NM_005481		Approved	DRIP92, TRAP95	uc002lqd.1	Q9Y2X0		ENST00000589119.1:c.1024C>A	19.37:g.881676G>T	ENSP00000464810:p.Leu342Ile					MED16_ENST00000325464.1_Missense_Mutation_p.L342I|MED16_ENST00000395808.3_Missense_Mutation_p.L342I|MED16_ENST00000606828.1_Intron|MED16_ENST00000269814.4_Missense_Mutation_p.L342I|MED16_ENST00000589119.1_Missense_Mutation_p.L342I	p.L342I			Q9Y2X0	MED16_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	7	1174	-		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)	342					Q6PJT2|Q96AD4|Q96I35|Q9Y652	Missense_Mutation	SNP	ENST00000589119.1	37	c.1024C>A	CCDS12047.1	.	.	.	.	.	.	.	.	.	.	G	25.7	4.668353	0.88348	.	.	ENSG00000175221	ENST00000325464;ENST00000312090;ENST00000395808;ENST00000269814;ENST00000534906;ENST00000537596;ENST00000424039	T;T;T;T	0.48836	0.8;0.8;0.8;0.8	4.46	4.46	0.54185	WD40 repeat-like-containing domain (2);	0.000000	0.64402	D	0.000001	T	0.64461	0.2600	L	0.56769	1.78	0.80722	D	1	D;D;D;D;D	0.76494	0.996;0.997;0.998;0.998;0.999	D;D;D;D;D	0.83275	0.986;0.987;0.996;0.99;0.994	T	0.64183	-0.6467	10	0.38643	T	0.18	15.9044	16.1288	0.81412	0.0:0.0:1.0:0.0	.	342;342;342;342;342	Q9Y2X0-2;E7ETV0;Q9Y2X0-4;Q9Y2X0-3;Q9Y2X0	.;.;.;.;MED16_HUMAN	I	342;342;342;342;342;198;342	ENSP00000325612:L342I;ENSP00000308528:L342I;ENSP00000379153:L342I;ENSP00000269814:L342I	ENSP00000269814:L342I	L	-	1	2	MED16	832676	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	9.136000	0.94489	2.036000	0.60181	0.561000	0.74099	CTA		0.577	MED16-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000457902.3	NM_005481		4	136	1	0	0.184627	0.184627	0.194884	4	136					T	881676	G	T	881676	3	4	24	1	0	0	0	0	1	0	0	0	9434	991	35	5	1649	5	MED16	19	881676	Missense_Mutation	SNP	G	TCGA-CH-5752-01A-11D-1576-08		881676	58247307	66	1059											
RYR1	6261	broad.mit.edu	37	chr19	38976722	38976722	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgctggaggccctgcgggaCaaggcactgaggatgctggg	7	5	18	11	2	0	1	0	1	0	0	0	4	0	4	2	6	2	3	2	6	1	0	rs201086478		TCGA-CH-5752-01A-11D-1576-08	TCGA-CH-5752-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f691ec8f-d3dd-4385-bc02-c29254d37c37	12e9a8b5-35d2-401b-aa04-653ab14c2331	g.chr19:38976722C>A	ENST00000359596.3	+	34	5427	c.5427C>A	c.(5425-5427)gaC>gaA	p.D1809E	RYR1_ENST00000360985.3_Missense_Mutation_p.D1809E|RYR1_ENST00000355481.4_Missense_Mutation_p.D1809E			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	1809	6 X approximate repeats.				calcium ion transport (GO:0006816)|cellular response to caffeine (GO:0071313)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|ossification involved in bone maturation (GO:0043931)|outflow tract morphogenesis (GO:0003151)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|skeletal muscle fiber development (GO:0048741)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|integral component of plasma membrane (GO:0005887)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|voltage-gated calcium channel activity (GO:0005245)	p.D1809E(1)		NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	CCCTGCGGGACAAGGCACTGA	0.711																																						ENST00000355481.4																			1	Substitution - Missense(1)	p.D1809E(1)	prostate(1)	NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285						c.(5425-5427)gaC>gaA		ryanodine receptor 1 (skeletal)	Dantrolene(DB01219)						36	38	37					19																	38976722		2201	4296	6497	SO:0001583	missense	6261				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr19:38976722C>A	J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"Ion channels / Ryanodine receptors"	10483	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 137"	180901	"central core disease of muscle"	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.5427C>A	19.37:g.38976722C>A	ENSP00000352608:p.Asp1809Glu					RYR1_ENST00000360985.3_Missense_Mutation_p.D1809E|RYR1_ENST00000359596.3_Missense_Mutation_p.D1809E	p.D1809E	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		34	5558	+	all_cancers(60;7.91e-06)		1809			6 X approximate repeats.		Q16314|Q16368|Q9NPK1|Q9P1U4	Missense_Mutation	SNP	ENST00000359596.3	37	c.5427C>A	CCDS33011.1	.	.	.	.	.	.	.	.	.	.	C	14.33	2.503612	0.44558	.	.	ENSG00000196218	ENST00000359596;ENST00000355481;ENST00000360985	T;T;T	0.71461	-0.57;-0.57;-0.57	3.7	-0.0852	0.13687	.	0.724978	0.12030	U	0.506064	T	0.47838	0.1467	N	0.10972	0.075	0.27141	N	0.96164	P;P	0.46220	0.874;0.467	P;B	0.47402	0.546;0.272	T	0.47086	-0.9144	10	0.02654	T	1	.	6.1172	0.20134	0.0:0.5473:0.1413:0.3114	.	1809;1809	P21817-2;P21817	.;RYR1_HUMAN	E	1809	ENSP00000352608:D1809E;ENSP00000347667:D1809E;ENSP00000354254:D1809E	ENSP00000347667:D1809E	D	+	3	2	RYR1	43668562	0.852000	0.29690	0.999000	0.59377	0.942000	0.58702	0.325000	0.19628	0.202000	0.20498	0.585000	0.79938	GAC		0.711	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1			43	57	1	0	8.72198e-27	0.870114	1.13505e-26	43	57					A	38976722	C	A	38976722	3	1	24	1	0	0	0	0	1	0	0	0	13768	477	17	5	5561	5	RYR1	19	38976722	Missense_Mutation	SNP	C	TCGA-CH-5752-01A-11D-1576-08	38095046	38976722	20152261	67	1060											
A1BG	1	broad.mit.edu	37	chr19	58863782	58863782	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctcctgggcctcaggcacCtccagaaactcatggtcgcc	7	8	9	17	1	2	1	2	0	0	1	6	1	5	1	6	3	1	1	6	3	1	0			TCGA-CH-5752-01A-11D-1576-08	TCGA-CH-5752-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f691ec8f-d3dd-4385-bc02-c29254d37c37	12e9a8b5-35d2-401b-aa04-653ab14c2331	g.chr19:58863782C>T	ENST00000263100.3	-	4	541	c.480G>A	c.(478-480)gaG>gaA	p.E160E	A1BG-AS1_ENST00000593374.1_RNA|A1BG-AS1_ENST00000594950.1_RNA|A1BG-AS1_ENST00000600379.1_RNA|A1BG-AS1_ENST00000599728.1_RNA|A1BG-AS1_ENST00000600686.1_RNA|CTD-2619J13.8_ENST00000599109.1_RNA|A1BG-AS1_ENST00000595302.1_RNA|A1BG-AS1_ENST00000593960.1_RNA	NM_130786.3	NP_570602.2	P04217	A1BG_HUMAN	alpha-1-B glycoprotein	160	Ig-like V-type 2.					blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)		p.E160E(1)		NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|prostate(2)	15		all_cancers(17;3.04e-16)|all_epithelial(17;7.77e-12)|Lung NSC(17;3.25e-05)|Colorectal(82;5.46e-05)|all_lung(17;0.000129)|all_neural(62;0.0182)|Ovarian(87;0.0443)|Breast(46;0.0889)|Renal(17;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0269)		CCTCAGGCACCTCCAGAAACT	0.627																																						ENST00000263100.3																			1	Substitution - coding silent(1)	p.E160E(1)	prostate(1)	NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|prostate(2)	15						c.(478-480)gaG>gaA		alpha-1-B glycoprotein							114	110	111					19																	58863782		2203	4300	6503	SO:0001819	synonymous_variant	1					extracellular region		g.chr19:58863782C>T		CCDS12976.1	19q13.43	2013-10-15			ENSG00000121410	ENSG00000121410		"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5	protein-coding gene	gene with protein product		138670				2591067	Standard	NM_130786		Approved		uc002qsd.4	P04217	OTTHUMG00000183507	ENST00000263100.3:c.480G>A	19.37:g.58863782C>T						CTD-2619J13.8_ENST00000599109.1_RNA|A1BG-AS1_ENST00000595302.1_RNA|A1BG-AS1_ENST00000594950.1_RNA|A1BG-AS1_ENST00000600686.1_RNA|A1BG-AS1_ENST00000600379.1_RNA|A1BG-AS1_ENST00000593960.1_RNA|A1BG-AS1_ENST00000593374.1_RNA|A1BG-AS1_ENST00000599728.1_RNA	p.E160E	NM_130786.3	NP_570602.2	P04217	A1BG_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0269)	4	541	-		all_cancers(17;3.04e-16)|all_epithelial(17;7.77e-12)|Lung NSC(17;3.25e-05)|Colorectal(82;5.46e-05)|all_lung(17;0.000129)|all_neural(62;0.0182)|Ovarian(87;0.0443)|Breast(46;0.0889)|Renal(17;0.157)	160			Ig-like V-type 2.		A8K052|Q68CK0|Q8IYJ6|Q96P39	Silent	SNP	ENST00000263100.3	37	c.480G>A	CCDS12976.1																																																																																				0.627	A1BG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466930.1	NM_130786		12	207	0	0	0	0.435327	0	12	207					T	58863782	C	T	58863782	2	4	24	1	0	0	0	0	0	0	0	1	1	680	24	3		3	A1BG	19	58863782	Silent	SNP	C	TCGA-CH-5752-01A-11D-1576-08	19887060	58863782	265201	68	1061											
PHF20	51230	broad.mit.edu	37	chr20	34389529	34389529	+	Splice_Site	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gggaccgtttaaaaaactggTacttttacatttttctgtta	11	17	7	6	1	1	0	0	0	1	0	1	1	1	1	1	2	3	3	1	2	6	8			TCGA-CH-5752-01A-11D-1576-08	TCGA-CH-5752-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f691ec8f-d3dd-4385-bc02-c29254d37c37	12e9a8b5-35d2-401b-aa04-653ab14c2331	g.chr20:34389529T>G	ENST00000374012.3	+	2	212		c.e2+2		PHF20_ENST00000439301.1_Splice_Site|PHF20_ENST00000481202.1_Splice_Site			Q9BVI0	PHF20_HUMAN	PHD finger protein 20						chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|MLL1 complex (GO:0071339)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.?(1)		breast(5)|endometrium(1)|kidney(7)|large_intestine(6)|lung(11)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39	Breast(12;0.00631)|all_lung(11;0.0145)					AAAAAACTGGTACTTTTACAT	0.413																																						ENST00000374012.3																			1	Unknown(1)	p.?(1)	prostate(1)	breast(5)|endometrium(1)|kidney(7)|large_intestine(6)|lung(11)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						c.e2+2		PHD finger protein 20							48	45	46					20																	34389529		2203	4300	6503	SO:0001630	splice_region_variant	51230				regulation of transcription, DNA-dependent|transcription, DNA-dependent	MLL1 complex	DNA binding|zinc ion binding	g.chr20:34389529T>G	AL109965	CCDS13268.1	20q11.22-q11.23	2013-01-28	2004-12-01	2004-12-01	ENSG00000025293	ENSG00000025293		"Tudor domain containing", "Zinc fingers, PHD-type"	16098	protein-coding gene	gene with protein product	"tudor domain containing 20A"	610335	"chromosome 20 open reading frame 104"	C20orf104			Standard	NM_016436		Approved	dJ1121G12.1, TDRD20A	uc002xek.1	Q9BVI0	OTTHUMG00000032367	ENST00000374012.3:c.83+2T>G	20.37:g.34389529T>G						PHF20_ENST00000439301.1_Splice_Site|PHF20_ENST00000481202.1_Splice_Site				Q9BVI0	PHF20_HUMAN			2	212	+	Breast(12;0.00631)|all_lung(11;0.0145)							A7E235|B2RB56|E1P5S3|Q566Q2|Q5JWY9|Q66K49|Q9BWV4|Q9BXA3|Q9BZW3|Q9H421|Q9H4J6|Q9NZ22	Splice_Site	SNP	ENST00000374012.3	37		CCDS13268.1	.	.	.	.	.	.	.	.	.	.	T	22.0	4.228503	0.79576	.	.	ENSG00000025293	ENST00000374012;ENST00000439301;ENST00000339089;ENST00000374000	.	.	.	5.43	5.43	0.79202	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.4687	0.67501	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	PHF20	33852943	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.026000	0.64103	2.049000	0.60858	0.459000	0.35465	.		0.413	PHF20-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078949.2	NM_016436	Intron	4	74	0	0	0	0.150653	0	4	74					G	34389529	T	G	34389529	5	3	24	1	0	0	0	0	0	0	1	0	11831	1652	57	5	87	5	PHF20	20	34389529	Splice_Site	SNP	T	TCGA-CH-5752-01A-11D-1576-08		34389529	28635991	69	1062											
C20orf111	51526	broad.mit.edu	37	chr20	42826279	42826279	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	actgctggaagaagacgctaTtgtactgcaatgtataaact	14	11	9	7	1	0	2	0	0	0	2	0	3	0	3	0	1	4	5	0	1	8	5			TCGA-CH-5752-01A-11D-1576-08	TCGA-CH-5752-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f691ec8f-d3dd-4385-bc02-c29254d37c37	12e9a8b5-35d2-401b-aa04-653ab14c2331	g.chr20:42826279T>C	ENST00000372970.2	-	6	472	c.292A>G	c.(292-294)Ata>Gta	p.I98V	OSER1_ENST00000255174.2_Missense_Mutation_p.I98V			Q9NX31	OSER1_HUMAN	oxidative stress responsive serine-rich 1	98					cellular response to hydrogen peroxide (GO:0070301)			p.I98V(1)									GAAGACGCTATTGTACTGCAA	0.488																																						ENST00000372970.2																			1	Substitution - Missense(1)	p.I98V(1)	prostate(1)								c.(292-294)Ata>Gta		oxidative stress responsive serine-rich 1							91	89	90					20																	42826279		2203	4300	6503	SO:0001583	missense	51526							g.chr20:42826279T>C	AL035447	CCDS13327.1	20q13.11	2013-05-17	2013-05-17	2013-05-17	ENSG00000132823	ENSG00000132823			16105	protein-coding gene	gene with protein product	"peroxide-inducible transcript 1", "oxidative stress-responsive 1"		"chromosome 20 open reading frame 111"	C20orf111		17148688	Standard	NM_016470		Approved	dJ1183I21.1, HSPC207, Perit1, Osr1		Q9NX31	OTTHUMG00000032518	ENST00000372970.2:c.292A>G	20.37:g.42826279T>C	ENSP00000362061:p.Ile98Val					OSER1_ENST00000255174.2_Missense_Mutation_p.I98V	p.I98V							6	472	-								B2RCK4|O95912|Q9NZ84|Q9P0R8	Missense_Mutation	SNP	ENST00000372970.2	37	c.292A>G	CCDS13327.1	.	.	.	.	.	.	.	.	.	.	T	0.194	-1.050338	0.01981	.	.	ENSG00000132823	ENST00000255174;ENST00000372970	T;T	0.40756	1.02;1.02	5.58	3.18	0.36537	.	0.570498	0.20465	N	0.091808	T	0.19604	0.0471	N	0.08118	0	0.09310	N	0.999998	B	0.16802	0.019	B	0.19148	0.024	T	0.25984	-1.0116	10	0.10636	T	0.68	-1.4844	8.8311	0.35085	0.1266:0.0:0.1328:0.7405	.	98	Q9NX31	CT111_HUMAN	V	98	ENSP00000255174:I98V;ENSP00000362061:I98V	ENSP00000255174:I98V	I	-	1	0	C20orf111	42259693	0.973000	0.33851	0.993000	0.49108	0.902000	0.53008	1.901000	0.39838	0.418000	0.25898	0.482000	0.46254	ATA		0.488	OSER1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079334.2	NM_016470		21	159	0	0	0	0.575678	0	21	159					C	42826279	T	C	42826279	3	2	24	1	0	0	0	0	1	0	0	0	2080	1493	52	4	590	4	C20orf111	20	42826279	Missense_Mutation	SNP	T	TCGA-CH-5752-01A-11D-1576-08	8436750	42826279	20199241	70	1063											
MATN4	8785	broad.mit.edu	37	chr20	43926838	43926838	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttggcgcgcgctgcccacacCgagatgtcatcctgggagcg	6	7	14	14	5	1	1	1	0	0	1	2	3	2	2	3	2	2	1	3	2	0	1			TCGA-CH-5752-01A-11D-1576-08	TCGA-CH-5752-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f691ec8f-d3dd-4385-bc02-c29254d37c37	12e9a8b5-35d2-401b-aa04-653ab14c2331	g.chr20:43926838C>T	ENST00000372754.1	-	7	1529	c.1521G>A	c.(1519-1521)tcG>tcA	p.S507S	MATN4_ENST00000360607.6_Silent_p.S425S|MATN4_ENST00000372751.4_Silent_p.S317S|MATN4_ENST00000372756.1_Silent_p.S466S|MATN4_ENST00000537548.1_Silent_p.S466S|MATN4_ENST00000342716.4_Silent_p.S466S|MATN4_ENST00000353917.5_Silent_p.S384S			O95460	MATN4_HUMAN	matrilin 4	507	VWFA 2. {ECO:0000255|PROSITE- ProRule:PRU00219}.				extracellular matrix organization (GO:0030198)|response to axon injury (GO:0048678)	extracellular region (GO:0005576)		p.S466S(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	27		Myeloproliferative disorder(115;0.0122)				CTGCCCACACCGAGATGTCAT	0.672																																						ENST00000537548.1																			1	Substitution - coding silent(1)	p.S466S(1)	prostate(1)	central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						c.(1396-1398)tcG>tcA		matrilin 4							55	48	51					20																	43926838		2203	4300	6503	SO:0001819	synonymous_variant	8785					extracellular region	protein binding	g.chr20:43926838C>T	AJ007581	CCDS13348.1, CCDS46607.1	20q13.1-q13.2	2008-07-07			ENSG00000124159	ENSG00000124159			6910	protein-coding gene	gene with protein product		603897				9827539, 9027493	Standard	NM_003833		Approved		uc002xnn.2	O95460	OTTHUMG00000033043	ENST00000372754.1:c.1521G>A	20.37:g.43926838C>T						MATN4_ENST00000342716.4_Silent_p.S466S|MATN4_ENST00000372754.1_Silent_p.S507S|MATN4_ENST00000372753.1_Silent_p.S317S|MATN4_ENST00000372756.1_Silent_p.S466S|MATN4_ENST00000372751.4_Silent_p.S317S|MATN4_ENST00000360607.5_Silent_p.S425S|MATN4_ENST00000353917.5_Silent_p.S384S	p.S466S			O95460	MATN4_HUMAN			8	1642	-		Myeloproliferative disorder(115;0.0122)	507			VWFA 2.		A6NH94|A6NKN5|Q5QPU2|Q5QPU3|Q5QPU4|Q8N2M5|Q8N2M7|Q9H1F8|Q9H1F9	Silent	SNP	ENST00000372754.1	37	c.1398G>A																																																																																					0.672	MATN4-002	KNOWN	non_canonical_conserved|non_canonical_U12|not_organism_supported|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000080335.1			5	73	0	0	0	0.217242	0	5	73					T	43926838	C	T	43926838	2	4	24	1	0	0	0	0	0	0	0	1	9336	639	23	2		2	MATN4	20	43926838	Silent	SNP	C	TCGA-CH-5752-01A-11D-1576-08	1100559	43926838	19098682	71	1064											
SRMS	6725	broad.mit.edu	37	chr20	62178595	62178595	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agggcacagagcctgtccccGcggcggacactcagctcccc	7	4	12	18	3	1	1	1	0	0	1	3	2	3	2	5	3	2	2	5	3	0	0			TCGA-CH-5752-01A-11D-1576-08	TCGA-CH-5752-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f691ec8f-d3dd-4385-bc02-c29254d37c37	12e9a8b5-35d2-401b-aa04-653ab14c2331	g.chr20:62178595G>A	ENST00000217188.1	-	1	262	c.222C>T	c.(220-222)cgC>cgT	p.R74R		NM_080823.2	NP_543013.1	Q9H3Y6	SRMS_HUMAN	src-related kinase lacking C-terminal regulatory tyrosine and N-terminal myristylation sites	74	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				peptidyl-tyrosine autophosphorylation (GO:0038083)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)	p.R74R(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|stomach(1)	19	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;9.69e-09)|all cancers(9;5.84e-08)|BRCA - Breast invasive adenocarcinoma(10;3.63e-06)			GCCTGTCCCCGCGGCGGACAC	0.701																																						ENST00000217188.1																			1	Substitution - coding silent(1)	p.R74R(1)	prostate(1)	breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|stomach(1)	19						c.(220-222)cgC>cgT		src-related kinase lacking C-terminal regulatory tyrosine and N-terminal myristylation sites							119	123	122					20																	62178595		2201	4292	6493	SO:0001819	synonymous_variant	6725						ATP binding|non-membrane spanning protein tyrosine kinase activity	g.chr20:62178595G>A		CCDS13525.1	20q13.33	2013-02-14	2003-08-22		ENSG00000125508	ENSG00000125508		"SH2 domain containing"	11298	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 148"	C20orf148		7935409	Standard	NM_080823		Approved	SRM, dJ697K14.1	uc002yfi.1	Q9H3Y6	OTTHUMG00000032977	ENST00000217188.1:c.222C>T	20.37:g.62178595G>A							p.R74R	NM_080823.2	NP_543013.1	Q9H3Y6	SRMS_HUMAN	Epithelial(9;9.69e-09)|all cancers(9;5.84e-08)|BRCA - Breast invasive adenocarcinoma(10;3.63e-06)		1	262	-	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		74			SH3.			Silent	SNP	ENST00000217188.1	37	c.222C>T	CCDS13525.1																																																																																				0.701	SRMS-001	KNOWN	mRNA_end_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080148.1	NM_080823		28	359	0	0	0	0.740014	0	28	359					A	62178595	G	A	62178595	2	1	24	1	0	0	0	0	0	0	0	1	15151	1074	38	1		1	SRMS	20	62178595	Silent	SNP	G	TCGA-CH-5752-01A-11D-1576-08	18251757	62178595	846925	72	1065											
APOBEC3D	140564	broad.mit.edu	37	chr22	39421246	39421246	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgagcaccccaatgtcaccCtgaccatctctgccgcccgc	7	7	7	20	2	2	2	1	2	1	0	3	2	2	2	6	0	2	1	6	0	1	0			TCGA-CH-5752-01A-11D-1576-08	TCGA-CH-5752-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f691ec8f-d3dd-4385-bc02-c29254d37c37	12e9a8b5-35d2-401b-aa04-653ab14c2331	g.chr22:39421246C>T	ENST00000216099.8	+	3	789	c.382C>T	c.(382-384)Ctg>Ttg	p.L128L	APOBEC3D_ENST00000381568.4_Silent_p.L128L|APOBEC3D_ENST00000427494.2_Intron	NM_152426.3	NP_689639.2	Q96AK3	ABC3D_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3D	128					defense response to virus (GO:0051607)|DNA cytosine deamination (GO:0070383)|innate immune response (GO:0045087)|negative regulation of single stranded viral RNA replication via double stranded DNA intermediate (GO:0045869)|negative regulation of transposition (GO:0010529)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines (GO:0016814)|zinc ion binding (GO:0008270)	p.L128L(2)		breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)	11	Melanoma(58;0.04)					CAATGTCACCCTGACCATCTC	0.572																																						ENST00000216099.7																			2	Substitution - coding silent(2)	p.L128L(2)	prostate(2)	breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)	11						c.(382-384)Ctg>Ttg		apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3D							85	86	86					22																	39421246		2203	4300	6503	SO:0001819	synonymous_variant	140564				negative regulation of transposition		hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines|zinc ion binding	g.chr22:39421246C>T	BF832090	CCDS46709.1	22q13.1	2012-10-19	2008-05-01		ENSG00000243811	ENSG00000243811		"Apolipoprotein B mRNA editing enzymes"	17354	protein-coding gene	gene with protein product		609900	"apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3D (putative)", "apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3E pseudogene"	APOBEC3E		11863358	Standard	NM_152426		Approved	ARP6, APOBEC3DE	uc003awt.4	Q96AK3	OTTHUMG00000151084	ENST00000216099.8:c.382C>T	22.37:g.39421246C>T						APOBEC3D_ENST00000427494.2_Intron|APOBEC3D_ENST00000381568.4_Silent_p.L128L	p.L128L	NM_152426.3	NP_689639.2	Q96AK3	ABC3D_HUMAN			3	789	+	Melanoma(58;0.04)		128					Q5JZ91|Q7Z2N2|Q7Z2N5|Q7Z2N6	Silent	SNP	ENST00000216099.8	37	c.382C>T	CCDS46709.1																																																																																				0.572	APOBEC3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321232.2	NM_152426		7	103	0	0	0	0.27861	0	7	103					T	39421246	C	T	39421246	2	4	24	1	0	0	0	0	0	0	0	1	792	680	24	3		3	APOBEC3D	22	39421246	Silent	SNP	C	TCGA-CH-5752-01A-11D-1576-08		39421246	11883320	73	1066											
HSPG2	3339	broad.mit.edu	37	chr1	22207181	22207181	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gacctggcgctggttcagagCaccaggttgggtgggtgtgt	5	10	18	8	1	1	1	1	0	0	1	1	2	1	1	2	5	1	4	2	5	0	2			TCGA-CH-5753-01A-11D-1576-08	TCGA-CH-5753-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05a8fbba-61ac-42a4-b375-87f3a671446b	c1987c4d-84f8-4464-93ad-7e53fd4a6a11	g.chr1:22207181C>A	ENST00000374695.3	-	15	2045	c.1966G>T	c.(1966-1968)Gct>Tct	p.A656S		NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	656	Laminin IV type A 1. {ECO:0000255|PROSITE-ProRule:PRU00458}.				angiogenesis (GO:0001525)|brain development (GO:0007420)|carbohydrate metabolic process (GO:0005975)|cardiac muscle tissue development (GO:0048738)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|chondrocyte differentiation (GO:0002062)|chondroitin sulfate metabolic process (GO:0030204)|embryonic skeletal system morphogenesis (GO:0048704)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|lipoprotein metabolic process (GO:0042157)|phototransduction, visible light (GO:0007603)|protein localization (GO:0008104)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	basal lamina (GO:0005605)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)	p.A656S(1)		breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Palifermin(DB00039)	TGGTTCAGAGCACCAGGTTGG	0.662																																						ENST00000374695.3																			1	Substitution - Missense(1)	p.A656S(1)	prostate(1)	breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127						c.(1966-1968)Gct>Tct		heparan sulfate proteoglycan 2	Becaplermin(DB00102)|Palifermin(DB00039)						21	22	21					1																	22207181		2193	4294	6487	SO:0001583	missense	3339				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding	g.chr1:22207181C>A	M85289	CCDS30625.1	1p36.1-p35	2013-01-29	2007-02-16	2007-02-16	ENSG00000142798	ENSG00000142798		"Proteoglycans / Extracellular Matrix : Other", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5273	protein-coding gene	gene with protein product	"perlecan proteoglycan"	142461	"Schwartz-Jampel syndrome 1 (chondrodystrophic myotonia)"	SJS1		1685141, 11941538	Standard	XM_005245863		Approved	perlecan, PRCAN	uc001bfj.3	P98160	OTTHUMG00000002674	ENST00000374695.3:c.1966G>T	1.37:g.22207181C>A	ENSP00000363827:p.Ala656Ser						p.A656S	NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	15	2045	-		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)	656			Laminin IV type A 1.		Q16287|Q5SZI3|Q9H3V5	Missense_Mutation	SNP	ENST00000374695.3	37	c.1966G>T	CCDS30625.1	.	.	.	.	.	.	.	.	.	.	C	3.138	-0.177046	0.06380	.	.	ENSG00000142798	ENST00000374695	T	0.34472	1.36	5.64	-8.1	0.01086	Laminin B type IV (2);Laminin B, subgroup (1);	1.547610	0.04337	N	0.353430	T	0.14787	0.0357	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.12837	0.008	T	0.15521	-1.0434	10	0.21540	T	0.41	.	5.9603	0.19295	0.0973:0.1932:0.0963:0.6132	.	656	P98160	PGBM_HUMAN	S	656	ENSP00000363827:A656S	ENSP00000363827:A656S	A	-	1	0	HSPG2	22079768	0.000000	0.05858	0.000000	0.03702	0.091000	0.18340	-0.861000	0.04268	-1.227000	0.02571	-0.345000	0.07892	GCT		0.662	HSPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007598.1	NM_005529		12	7	1	0	0.00136819	0.411799	0.00151034	12	7					A	22207181	C	A	22207181	3	1	25	1	0	0	0	0	1	0	0	0	7430	710	25	5	11541	5	HSPG2	1	22207181	Missense_Mutation	SNP	C	TCGA-CH-5753-01A-11D-1576-08		22207181	227043440	1	1067											
AGL	178	broad.mit.edu	37	chr1	100327247	100327247	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atctgcaacaatctggttcaTttcagtattatttccttcaa	11	17	4	9	0	5	0	3	0	2	0	6	0	6	0	1	1	2	3	1	1	5	6			TCGA-CH-5753-01A-11D-1576-08	TCGA-CH-5753-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05a8fbba-61ac-42a4-b375-87f3a671446b	c1987c4d-84f8-4464-93ad-7e53fd4a6a11	g.chr1:100327247T>C	ENST00000294724.4	+	3	749	c.271T>C	c.(271-273)Ttt>Ctt	p.F91L	AGL_ENST00000370165.3_Missense_Mutation_p.F91L|AGL_ENST00000370161.2_Missense_Mutation_p.F75L|AGL_ENST00000361522.4_Missense_Mutation_p.F74L|AGL_ENST00000361302.3_Missense_Mutation_p.F75L|AGL_ENST00000370163.3_Missense_Mutation_p.F91L|AGL_ENST00000361915.3_Missense_Mutation_p.F91L	NM_000028.2	NP_000019.2	P35573	GDE_HUMAN	amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase	91					carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|glycogen catabolic process (GO:0005980)|response to glucocorticoid (GO:0051384)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|inclusion body (GO:0016234)|isoamylase complex (GO:0043033)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)	4-alpha-glucanotransferase activity (GO:0004134)|amylo-alpha-1,6-glucosidase activity (GO:0004135)|glycogen debranching enzyme activity (GO:0004133)|polysaccharide binding (GO:0030247)	p.F91L(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(9)|lung(35)|ovary(1)|prostate(4)|skin(3)|urinary_tract(1)	69		all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131)		Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237)		ATCTGGTTCATTTCAGTATTA	0.313																																						ENST00000294724.4																			1	Substitution - Missense(1)	p.F91L(1)	prostate(1)	NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(9)|lung(35)|ovary(1)|prostate(4)|skin(3)|urinary_tract(1)	69						c.(271-273)Ttt>Ctt		amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase							96	103	100					1																	100327247		2202	4298	6500	SO:0001583	missense	178				glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol|isoamylase complex|nucleus	4-alpha-glucanotransferase activity|amylo-alpha-1,6-glucosidase activity|cation binding	g.chr1:100327247T>C	BC078663	CCDS759.1, CCDS760.1, CCDS761.1	1p21	2010-04-27	2010-04-27		ENSG00000162688	ENSG00000162688	2.4.1.25, 3.2.1.33		321	protein-coding gene	gene with protein product	"glycogen debranching enzyme", "glycogen storage disease type III"	610860	"amylo-1, 6-glucosidase, 4-alpha-glucanotransferase"			1505983	Standard	NM_000028		Approved		uc001dsi.1	P35573	OTTHUMG00000010803	ENST00000294724.4:c.271T>C	1.37:g.100327247T>C	ENSP00000294724:p.Phe91Leu					AGL_ENST00000370163.3_Missense_Mutation_p.F91L|AGL_ENST00000370165.3_Missense_Mutation_p.F91L|AGL_ENST00000361915.3_Missense_Mutation_p.F91L|AGL_ENST00000361522.4_Missense_Mutation_p.F74L|AGL_ENST00000370161.2_Missense_Mutation_p.F75L|AGL_ENST00000361302.3_Missense_Mutation_p.F75L	p.F91L	NM_000028.2	NP_000019.2	P35573	GDE_HUMAN		Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237)	3	749	+		all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131)	91					A6NCX7|A6NEK2|D3DT51|P78354|P78544|Q59H92|Q6AZ90|Q9UF08	Missense_Mutation	SNP	ENST00000294724.4	37	c.271T>C	CCDS759.1	.	.	.	.	.	.	.	.	.	.	T	27.1	4.799593	0.90538	.	.	ENSG00000162688	ENST00000361915;ENST00000370165;ENST00000370163;ENST00000294724;ENST00000361302;ENST00000370161;ENST00000361522	T;T;T;T;T;T;T	0.61274	0.12;0.12;0.12;0.12;0.12;0.12;0.12	5.17	5.17	0.71159	.	0.062065	0.64402	D	0.000002	T	0.61502	0.2352	M	0.75085	2.285	0.54753	D	0.999982	P;P;P	0.46912	0.886;0.886;0.819	P;P;P	0.52109	0.69;0.69;0.493	T	0.68610	-0.5363	10	0.72032	D	0.01	.	15.0052	0.71507	0.0:0.0:0.0:1.0	.	74;75;91	P35573-2;P35573-3;P35573	.;.;GDE_HUMAN	L	91;91;91;91;75;75;74	ENSP00000355106:F91L;ENSP00000359184:F91L;ENSP00000359182:F91L;ENSP00000294724:F91L;ENSP00000354971:F75L;ENSP00000359180:F75L;ENSP00000354635:F74L	ENSP00000294724:F91L	F	+	1	0	AGL	100099835	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.985000	0.88162	1.949000	0.56562	0.533000	0.62120	TTT		0.313	AGL-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029778.1	NM_000028		37	108	0	0	0	0.834066	0	37	108					C	100327247	T	C	100327247	3	2	25	1	0	0	0	0	1	0	0	0	384	1493	52	4	346	4	AGL	1	100327247	Missense_Mutation	SNP	T	TCGA-CH-5753-01A-11D-1576-08	78120066	100327247	148923374	2	1068											
NHLH2	4808	broad.mit.edu	37	chr1	116380707	116380707	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	atttgcggagctcggcgaagGccaagttgaaggcttccacg	9	8	14	10	4	0	1	0	1	0	0	2	3	1	2	2	4	2	3	2	4	3	3			TCGA-CH-5753-01A-11D-1576-08	TCGA-CH-5753-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05a8fbba-61ac-42a4-b375-87f3a671446b	c1987c4d-84f8-4464-93ad-7e53fd4a6a11	g.chr1:116380707G>T	ENST00000369506.1	-	1	5831	c.287C>A	c.(286-288)gCc>gAc	p.A96D	NHLH2_ENST00000320238.3_Missense_Mutation_p.A96D			Q02577	HEN2_HUMAN	nescient helix loop helix 2	96	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				cell differentiation (GO:0030154)|central nervous system development (GO:0007417)|mating behavior (GO:0007617)|ovulation cycle (GO:0042698)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|RNA polymerase II activating transcription factor binding (GO:0001102)	p.A96D(1)		prostate(1)	1	Lung SC(450;0.184)	all_cancers(81;1.75e-06)|all_epithelial(167;1.16e-06)|all_lung(203;9.55e-06)|Lung NSC(69;5.83e-05)		Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12)		CTCGGCGAAGGCCAAGTTGAA	0.672																																						ENST00000369506.1																			1	Substitution - Missense(1)	p.A96D(1)	prostate(1)	prostate(1)	1						c.(286-288)gCc>gAc		nescient helix loop helix 2							22	26	25					1																	116380707		2202	4300	6502	SO:0001583	missense	4808				cell differentiation|central nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr1:116380707G>T		CCDS885.1	1p12-p11	2013-05-21			ENSG00000177551	ENSG00000177551		"Basic helix-loop-helix proteins"	7818	protein-coding gene	gene with protein product		162361		HEN2		1528853	Standard	NM_005599		Approved	NSCL2, bHLHa34	uc001efy.3	Q02577	OTTHUMG00000011969	ENST00000369506.1:c.287C>A	1.37:g.116380707G>T	ENSP00000358519:p.Ala96Asp					NHLH2_ENST00000320238.3_Missense_Mutation_p.A96D	p.A96D			Q02577	HEN2_HUMAN		Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12)	1	5831	-	Lung SC(450;0.184)	all_cancers(81;1.75e-06)|all_epithelial(167;1.16e-06)|all_lung(203;9.55e-06)|Lung NSC(69;5.83e-05)	96			Helix-loop-helix motif.		Q5T1P6	Missense_Mutation	SNP	ENST00000369506.1	37	c.287C>A	CCDS885.1	.	.	.	.	.	.	.	.	.	.	G	25.0	4.590219	0.86851	.	.	ENSG00000177551	ENST00000320238;ENST00000369506;ENST00000429731	D;D;D	0.98329	-4.87;-4.87;-4.87	4.72	4.72	0.59763	Helix-loop-helix DNA-binding (5);	0.000000	0.64402	D	0.000001	D	0.99074	0.9682	M	0.91717	3.235	0.80722	D	1	D	0.64830	0.994	D	0.66716	0.946	D	0.99568	1.0970	10	0.87932	D	0	-12.1358	17.3086	0.87202	0.0:0.0:1.0:0.0	.	96	Q02577	HEN2_HUMAN	D	96	ENSP00000322087:A96D;ENSP00000358519:A96D;ENSP00000405062:A96D	ENSP00000322087:A96D	A	-	2	0	NHLH2	116182230	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.609000	0.98334	2.167000	0.68274	0.555000	0.69702	GCC		0.672	NHLH2-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033090.1	NM_005599		3	14	1	0	0.115264	0.115264	0.119481	3	14					T	116380707	G	T	116380707	3	4	25	1	0	0	0	0	1	0	0	0	10404	1203	42	5	124	5	NHLH2	1	116380707	Missense_Mutation	SNP	G	TCGA-CH-5753-01A-11D-1576-08	16053460	116380707	132869914	3	1069											
TDRKH	11022	broad.mit.edu	37	chr1	151751596	151751596	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	tgccttggctgctgccacttCcttctgtgttcctgagattt	3	17	9	12	0	1	1	0	1	1	1	3	2	3	1	4	1	3	3	4	1	0	5			TCGA-CH-5753-01A-11D-1576-08	TCGA-CH-5753-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05a8fbba-61ac-42a4-b375-87f3a671446b	c1987c4d-84f8-4464-93ad-7e53fd4a6a11	g.chr1:151751596C>G	ENST00000368822.1	-	5	1177	c.544G>C	c.(544-546)Gaa>Caa	p.E182Q	TDRKH_ENST00000368824.3_Missense_Mutation_p.E182Q|TDRKH_ENST00000368825.3_Missense_Mutation_p.E137Q|TDRKH_ENST00000484421.1_5'UTR|TDRKH_ENST00000440583.2_5'UTR|TDRKH_ENST00000368823.1_Missense_Mutation_p.E178Q|TDRKH_ENST00000458431.2_Missense_Mutation_p.E182Q|TDRKH_ENST00000368827.6_Missense_Mutation_p.E182Q			Q9Y2W6	TDRKH_HUMAN	tudor and KH domain containing	182	KH 2. {ECO:0000255|PROSITE- ProRule:PRU00117}.				cell differentiation (GO:0030154)|DNA methylation involved in gamete generation (GO:0043046)|fertilization (GO:0009566)|gene silencing by RNA (GO:0031047)|male meiosis (GO:0007140)|piRNA metabolic process (GO:0034587)|spermatogenesis (GO:0007283)	mitochondrion (GO:0005739)|pi-body (GO:0071546)|piP-body (GO:0071547)	RNA binding (GO:0003723)	p.E182Q(1)		breast(5)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			GCTGCCACTTCCTTCTGTGTT	0.398																																						ENST00000368822.1																			1	Substitution - Missense(1)	p.E182Q(1)	prostate(1)	breast(5)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26						c.(544-546)Gaa>Caa		tudor and KH domain containing							204	193	197					1																	151751596		1894	4114	6008	SO:0001583	missense	11022						RNA binding	g.chr1:151751596C>G	AF227192	CCDS41394.1, CCDS41395.1	1q21	2013-01-23	2003-11-07		ENSG00000182134	ENSG00000182134		"Tudor domain containing"	11713	protein-coding gene	gene with protein product		609501	"tudor and KH domain containing"			10767542	Standard	NM_001083964		Approved	TDRD2	uc001eza.4	Q9Y2W6	OTTHUMG00000013062	ENST00000368822.1:c.544G>C	1.37:g.151751596C>G	ENSP00000357812:p.Glu182Gln					TDRKH_ENST00000458431.2_Missense_Mutation_p.E182Q|TDRKH_ENST00000368823.1_Missense_Mutation_p.E178Q|TDRKH_ENST00000368825.3_Missense_Mutation_p.E137Q|TDRKH_ENST00000484421.1_5'UTR|TDRKH_ENST00000368824.3_Missense_Mutation_p.E182Q|TDRKH_ENST00000440583.2_5'UTR|TDRKH_ENST00000368827.6_Missense_Mutation_p.E182Q	p.E182Q			Q9Y2W6	TDRKH_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.181)		5	1177	-	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		182			KH 2.		D3DV24|Q5SZR3|Q5SZR5|Q8N582|Q9NYV5	Missense_Mutation	SNP	ENST00000368822.1	37	c.544G>C	CCDS41394.1	.	.	.	.	.	.	.	.	.	.	C	14.42	2.531414	0.45073	.	.	ENSG00000182134	ENST00000368827;ENST00000368825;ENST00000368824;ENST00000368823;ENST00000368822;ENST00000458431	T;T;T;T;T;T	0.61980	1.66;0.06;1.66;1.66;1.66;1.66	5.72	5.72	0.89469	K Homology (1);K Homology, type 1, subgroup (1);K Homology, type 1 (1);	0.169611	0.50627	D	0.000116	T	0.33030	0.0849	N	0.01464	-0.85	0.80722	D	1	P;D;P	0.52996	0.911;0.957;0.775	P;P;P	0.59595	0.609;0.86;0.526	T	0.45381	-0.9265	10	0.08179	T	0.78	-18.8232	14.1077	0.65101	0.0:0.8495:0.1505:0.0	.	137;178;182	Q5SZR5;Q5SZR4;Q9Y2W6	.;.;TDRKH_HUMAN	Q	182;137;182;178;182;182	ENSP00000357819:E182Q;ENSP00000357817:E137Q;ENSP00000357815:E182Q;ENSP00000357813:E178Q;ENSP00000357812:E182Q;ENSP00000395718:E182Q	ENSP00000357812:E182Q	E	-	1	0	TDRKH	150018220	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.445000	0.52921	2.694000	0.91930	0.650000	0.86243	GAA		0.398	TDRKH-005	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000036648.2	NM_006862		98	293	0	0	0	0.870114	0	98	293					G	151751596	C	G	151751596	3	3	25	1	0	0	0	0	1	0	0	0	15734	864	30	5	1177	5	TDRKH	1	151751596	Missense_Mutation	SNP	C	TCGA-CH-5753-01A-11D-1576-08	35370889	151751596	97499025	4	1070											
BCAN	63827	broad.mit.edu	37	chr1	156616762	156616762	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttcctgtcccggggccgggaGgcagaggtgctggtggcgcg	3	7	20	11	4	0	1	0	0	0	1	2	2	2	2	3	7	1	2	3	7	0	1			TCGA-CH-5753-01A-11D-1576-08	TCGA-CH-5753-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05a8fbba-61ac-42a4-b375-87f3a671446b	c1987c4d-84f8-4464-93ad-7e53fd4a6a11	g.chr1:156616762G>T	ENST00000329117.5	+	3	597	c.261G>T	c.(259-261)gaG>gaT	p.E87D	RP11-284F21.7_ENST00000448869.1_RNA|BCAN_ENST00000361588.5_Missense_Mutation_p.E87D|RP11-284F21.10_ENST00000605886.1_RNA	NM_021948.4	NP_068767.3	Q96GW7	PGCB_HUMAN	brevican	87	Ig-like V-type.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|hippocampus development (GO:0021766)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)	carbohydrate binding (GO:0030246)|hyaluronic acid binding (GO:0005540)	p.E87D(1)		cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	55	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					GGGGCCGGGAGGCAGAGGTGC	0.706																																						ENST00000329117.4																			1	Substitution - Missense(1)	p.E87D(1)	prostate(1)	cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	55						c.(259-261)gaG>gaT		brevican							29	27	27					1																	156616762		2198	4294	6492	SO:0001583	missense	63827				cell adhesion	anchored to membrane|proteinaceous extracellular matrix	hyaluronic acid binding|sugar binding	g.chr1:156616762G>T	BC027971	CCDS1149.1, CCDS1150.1	1q31	2013-05-07			ENSG00000132692	ENSG00000132692		"Immunoglobulin superfamily / V-set domain containing", "Proteoglycans / Extracellular Matrix : Hyalectans"	23059	protein-coding gene	gene with protein product	"chondroitin sulfate proteoglycan 7", "brevican proteoglycan"	600347				11054543, 11873941	Standard	NM_021948		Approved	BEHAB, MGC13038, CSPG7	uc001fpp.3	Q96GW7	OTTHUMG00000033322	ENST00000329117.5:c.261G>T	1.37:g.156616762G>T	ENSP00000331210:p.Glu87Asp					BCAN_ENST00000361588.5_Missense_Mutation_p.E87D|RP11-284F21.7_ENST00000448869.1_RNA	p.E87D	NM_021948.4	NP_068767.3	Q96GW7	PGCB_HUMAN			3	597	+	all_hematologic(923;0.088)|Hepatocellular(266;0.158)		87			Ig-like V-type.		D3DVC2|Q5SZ10|Q5T3I5|Q8TBB9|Q9HBK1|Q9HBK4	Missense_Mutation	SNP	ENST00000329117.5	37	c.261G>T	CCDS1149.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.267939	0.80469	.	.	ENSG00000132692	ENST00000441358;ENST00000255029;ENST00000329117;ENST00000457777;ENST00000361588	T;T;T;T	0.65364	-0.15;-0.15;-0.15;-0.15	4.61	4.61	0.57282	Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin V-set, subgroup (1);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000015	T	0.67822	0.2934	M	0.62088	1.915	0.43628	D	0.996013	D;P	0.89917	1.0;0.849	D;P	0.91635	0.999;0.644	T	0.70741	-0.4789	10	0.59425	D	0.04	-9.1311	9.8783	0.41218	0.0949:0.0:0.9051:0.0	.	87;87	Q96GW7;Q96GW7-2	PGCB_HUMAN;.	D	87	ENSP00000392731:E87D;ENSP00000331210:E87D;ENSP00000389898:E87D;ENSP00000354925:E87D	ENSP00000255029:E87D	E	+	3	2	BCAN	154883386	1.000000	0.71417	0.998000	0.56505	0.820000	0.46376	2.126000	0.42026	2.379000	0.81126	0.455000	0.32223	GAG		0.706	BCAN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081844.2	NM_021948		4	60	1	0	0.00116845	0.217242	0.00130681	4	60					T	156616762	G	T	156616762	3	4	25	1	0	0	0	0	1	0	0	0	1345	991	35	5	267	5	BCAN	1	156616762	Missense_Mutation	SNP	G	TCGA-CH-5753-01A-11D-1576-08	4865166	156616762	92633859	5	1071											
FAM163A	148753	broad.mit.edu	37	chr1	179782917	179782917	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tctgcccttccgcacagtatTactgctgcaagaagagcgga	10	9	10	12	2	1	2	0	0	1	2	2	3	2	3	2	1	5	4	2	1	4	3			TCGA-CH-5753-01A-11D-1576-08	TCGA-CH-5753-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05a8fbba-61ac-42a4-b375-87f3a671446b	c1987c4d-84f8-4464-93ad-7e53fd4a6a11	g.chr1:179782917T>C	ENST00000341785.4	+	5	493	c.97T>C	c.(97-99)Tac>Cac	p.Y33H	RP11-12M5.3_ENST00000415218.1_RNA|RP11-12M5.3_ENST00000453051.1_RNA	NM_173509.2	NP_775780.1	Q96GL9	F163A_HUMAN	family with sequence similarity 163, member A	33						integral component of membrane (GO:0016021)		p.Y33H(1)		endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(1)	15						CGCACAGTATTACTGCTGCAA	0.627																																						ENST00000341785.4																			1	Substitution - Missense(1)	p.Y33H(1)	prostate(1)	endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(1)	15						c.(97-99)Tac>Cac		family with sequence similarity 163, member A							37	35	36					1																	179782917		2203	4300	6503	SO:0001583	missense	148753					integral to membrane		g.chr1:179782917T>C	BC009382	CCDS1333.1	1q25.2	2008-06-05	2008-06-05	2008-06-05	ENSG00000143340	ENSG00000143340			28274	protein-coding gene	gene with protein product		611727	"chromosome 1 open reading frame 76"	C1orf76		12477932	Standard	NM_173509		Approved	MGC16664	uc001gnj.3	Q96GL9	OTTHUMG00000035262	ENST00000341785.4:c.97T>C	1.37:g.179782917T>C	ENSP00000354891:p.Tyr33His						p.Y33H	NM_173509.2	NP_775780.1	Q96GL9	F163A_HUMAN			5	493	+			33					A8K8R7	Missense_Mutation	SNP	ENST00000341785.4	37	c.97T>C	CCDS1333.1	.	.	.	.	.	.	.	.	.	.	T	19.34	3.808640	0.70797	.	.	ENSG00000143340	ENST00000341785	.	.	.	4.63	4.63	0.57726	.	0.138436	0.50627	D	0.000116	T	0.76652	0.4017	M	0.68593	2.085	0.58432	D	0.999998	D	0.89917	1.0	D	0.87578	0.998	T	0.79825	-0.1640	9	0.87932	D	0	-21.5553	14.0085	0.64481	0.0:0.0:0.0:1.0	.	33	Q96GL9	F163A_HUMAN	H	33	.	ENSP00000354891:Y33H	Y	+	1	0	FAM163A	178049540	1.000000	0.71417	1.000000	0.80357	0.548000	0.35241	7.214000	0.77958	1.860000	0.53959	0.379000	0.24179	TAC		0.627	FAM163A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085300.1	NM_173509		8	59	0	0	0	0.335167	0	8	59					C	179782917	T	C	179782917	3	2	25	1	0	0	0	0	1	0	0	0	5476	1754	61	4	103	4	FAM163A	1	179782917	Missense_Mutation	SNP	T	TCGA-CH-5753-01A-11D-1576-08	23166155	179782917	69467704	6	1072											
CNTNAP5	129684	broad.mit.edu	37	chr2	125204422	125204422	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggcactcggtcctcattgagCgggtgggcaagcaggtgaac	8	7	16	10	2	1	2	1	2	0	0	3	2	2	2	1	5	3	3	1	5	2	1	rs200941353		TCGA-CH-5753-01A-11D-1576-08	TCGA-CH-5753-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05a8fbba-61ac-42a4-b375-87f3a671446b	c1987c4d-84f8-4464-93ad-7e53fd4a6a11	g.chr2:125204422C>T	ENST00000431078.1	+	6	1190	c.826C>T	c.(826-828)Cgg>Tgg	p.R276W		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	276	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)		p.R276W(3)		NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		CCTCATTGAGCGGGTGGGCAA	0.597																																						ENST00000431078.1																			3	Substitution - Missense(3)	p.R276W(3)	prostate(2)|haematopoietic_and_lymphoid_tissue(1)	NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176						c.(826-828)Cgg>Tgg		contactin associated protein-like 5							89	92	91					2																	125204422		2170	4284	6454	SO:0001583	missense	129684				cell adhesion|signal transduction	integral to membrane	receptor binding	g.chr2:125204422C>T	AB077881	CCDS46401.1	2q14.1	2008-02-05			ENSG00000155052	ENSG00000155052			18748	protein-coding gene	gene with protein product		610519					Standard	NM_130773		Approved	caspr5, FLJ31966	uc002tno.3	Q8WYK1	OTTHUMG00000153356	ENST00000431078.1:c.826C>T	2.37:g.125204422C>T	ENSP00000399013:p.Arg276Trp						p.R276W	NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.248)	6	1190	+			276			Laminin G-like 1.		Q4ZFW2|Q4ZG21|Q53R09|Q53RX1|Q53SG3|Q584P3|Q96MS7	Missense_Mutation	SNP	ENST00000431078.1	37	c.826C>T	CCDS46401.1	.	.	.	.	.	.	.	.	.	.	C	14.79	2.641623	0.47153	.	.	ENSG00000155052	ENST00000431078	D	0.81659	-1.52	5.87	1.9	0.25705	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.000000	0.47455	D	0.000238	D	0.89012	0.6594	M	0.87617	2.895	0.58432	D	0.999998	D	0.89917	1.0	D	0.97110	1.0	D	0.87546	0.2462	10	0.72032	D	0.01	.	9.6821	0.40076	0.3478:0.5863:0.0:0.0658	.	276	Q8WYK1	CNTP5_HUMAN	W	276	ENSP00000399013:R276W	ENSP00000399013:R276W	R	+	1	2	CNTNAP5	124920892	1.000000	0.71417	0.535000	0.28026	0.083000	0.17756	2.522000	0.45572	0.130000	0.18549	-0.136000	0.14681	CGG		0.597	CNTNAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330864.3			51	79	0	0	0	0.870114	0	51	79					T	125204422	C	T	125204422	3	4	25	1	0	0	0	0	1	0	0	0	3650	759	27	1	848	1	CNTNAP5	2	125204422	Missense_Mutation	SNP	C	TCGA-CH-5753-01A-11D-1576-08		125204422	117994951	7	1073											
IMP4	92856	broad.mit.edu	37	chr2	131100711	131100711	+	Frame_Shift_Del	DEL	A	A	-																															cctgtaccgcaaggcccgggAggaggcgcagcgctcagccc																										TCGA-CH-5753-01A-11D-1576-08	TCGA-CH-5753-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05a8fbba-61ac-42a4-b375-87f3a671446b	c1987c4d-84f8-4464-93ad-7e53fd4a6a11	g.chr2:131100711delA	ENST00000259239.3	+	2	764	c.56delA	c.(55-57)gagfs	p.E20fs	CCDC115_ENST00000409127.1_5'Flank|IMP4_ENST00000409935.1_Frame_Shift_Del_p.E20fs|CCDC115_ENST00000259229.2_5'Flank|CCDC115_ENST00000437688.2_5'Flank	NM_033416.1	NP_219484.1	Q96G21	IMP4_HUMAN	IMP4, U3 small nucleolar ribonucleoprotein	20	Arg-rich.				rRNA processing (GO:0006364)	nucleolus (GO:0005730)|ribonucleoprotein complex (GO:0030529)				central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|skin(1)|urinary_tract(1)	18	Colorectal(110;0.1)					AAGGCCCGGGAGGAGGCGCAG	0.726																																						ENST00000259239.3																			0				central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|skin(1)|urinary_tract(1)	18						c.(55-57)ggfs		IMP4, U3 small nucleolar ribonucleoprotein, homolog (yeast)							4	6	5					2																	131100711		1991	3916	5907	SO:0001589	frameshift_variant	92856				rRNA processing|translation	nucleolus|ribonucleoprotein complex	aminoacyl-tRNA ligase activity|ATP binding|protein binding	g.chr2:131100711delA	BC010042	CCDS2160.1	2q21.1	2014-02-19	2014-02-19		ENSG00000136718	ENSG00000136718			30856	protein-coding gene	gene with protein product		612981	"IMP4, U3 small nucleolar ribonucleoprotein, homolog (yeast)"			8619474, 9110174, 12655004	Standard	NM_033416		Approved	MGC19606, BXDC4	uc002tra.1	Q96G21	OTTHUMG00000131627	ENST00000259239.3:c.56delA	2.37:g.131100711delA	ENSP00000259239:p.Glu20fs					IMP4_ENST00000409935.1_Frame_Shift_Del_p.E20fs	p.E20fs	NM_033416.1	NP_219484.1	Q96G21	IMP4_HUMAN			2	764	+	Colorectal(110;0.1)		20			Arg-rich.		Q3ZTT3	Frame_Shift_Del	DEL	ENST00000259239.3	37	c.56delA	CCDS2160.1																																																																																				0.726	IMP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254520.2	NM_033416		2	4						2	4	---	---	---	---	-	131100711	A	-	131100711	7	5	25	1	0	1	0	1	0	0	0	0	7720	304	11	0	62	0	IMP4	2	131100711	Frame_Shift_Del	DEL	A	TCGA-CH-5753-01A-11D-1576-08	5896289	131100711	112098662	8	1074											
LRP1B	53353	broad.mit.edu	37	chr2	141473656	141473656	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttaagttgaaaccatgatctGtccaatatatgttacctagg	13	14	7	7	0	1	2	0	2	1	0	2	2	2	2	3	1	2	2	3	1	7	6			TCGA-CH-5753-01A-11D-1576-08	TCGA-CH-5753-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05a8fbba-61ac-42a4-b375-87f3a671446b	c1987c4d-84f8-4464-93ad-7e53fd4a6a11	g.chr2:141473656G>T	ENST00000389484.3	-	37	6880	c.5909C>A	c.(5908-5910)aCa>aAa	p.T1970K		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	1970					protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)	p.T1970K(1)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		ACCATGATCTGTCCAATATAT	0.318										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	ENST00000389484.3																			1	Substitution - Missense(1)	p.T1970K(1)	prostate(1)	NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606						c.(5908-5910)aCa>aAa		low density lipoprotein receptor-related protein 1B							108	115	113					2																	141473656		2203	4299	6502	SO:0001583	missense	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141473656G>T	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"Low density lipoprotein receptors"	6693	protein-coding gene	gene with protein product	"LRP-deleted in tumors"	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.5909C>A	2.37:g.141473656G>T	ENSP00000374135:p.Thr1970Lys	TSP Lung(27;0.18)					p.T1970K	NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)	37	6880	-		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)	1970					Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	c.5909C>A	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	G	25.1	4.602641	0.87157	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	D	0.92911	-3.13	5.35	5.35	0.76521	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.64402	U	0.000001	D	0.96639	0.8903	H	0.96111	3.77	0.51012	D	0.999905	D	0.54772	0.968	P	0.52909	0.713	D	0.97844	1.0270	10	0.87932	D	0	.	19.0753	0.93159	0.0:0.0:1.0:0.0	.	1970	Q9NZR2	LRP1B_HUMAN	K	1970;1908	ENSP00000374135:T1970K	ENSP00000374135:T1970K	T	-	2	0	LRP1B	141190126	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.862000	0.87013	2.515000	0.84797	0.650000	0.86243	ACA		0.318	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		22	344	1	0	3.5997e-14	0.624587	4.63598e-14	22	344					T	141473656	G	T	141473656	3	4	25	1	0	0	0	0	1	0	0	0	8955	1377	48	5	8110	5	LRP1B	2	141473656	Missense_Mutation	SNP	G	TCGA-CH-5753-01A-11D-1576-08	10372945	141473656	101725717	9	1075											
SCN1A	6323	broad.mit.edu	37	chr2	166900451	166900451	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggtgctgtgctcatcatctgCgaagtcgttctcagatccca	7	12	10	12	2	4	1	3	0	2	1	7	2	5	1	1	1	3	3	1	1	1	1			TCGA-CH-5753-01A-11D-1576-08	TCGA-CH-5753-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05a8fbba-61ac-42a4-b375-87f3a671446b	c1987c4d-84f8-4464-93ad-7e53fd4a6a11	g.chr2:166900451C>T	ENST00000303395.4	-	11	1770	c.1771G>A	c.(1771-1773)Gca>Aca	p.A591T	AC010127.3_ENST00000599041.1_RNA|AC010127.3_ENST00000595647.1_RNA|AC010127.3_ENST00000595268.1_RNA|SCN1A_ENST00000409050.1_Missense_Mutation_p.A591T|SCN1A_ENST00000423058.2_Missense_Mutation_p.A591T|SCN1A_ENST00000375405.3_Missense_Mutation_p.A591T			P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	591					adult walking behavior (GO:0007628)|membrane depolarization during action potential (GO:0086010)|neuromuscular process controlling posture (GO:0050884)|neuronal action potential (GO:0019228)|neuronal action potential propagation (GO:0019227)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon initial segment (GO:0043194)|intercalated disc (GO:0014704)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)|Z disc (GO:0030018)	voltage-gated sodium channel activity (GO:0005248)			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Dronedarone(DB04855)|Nitrazepam(DB01595)|Permethrin(DB04930)|Phenacemide(DB01121)|Phenazopyridine(DB01438)|Phenytoin(DB00252)|Topiramate(DB00273)|Valproic Acid(DB00313)|Zonisamide(DB00909)	TCATCATCTGCGAAGTCGTTC	0.517																																						ENST00000423058.2																			0				NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200						c.(1771-1773)Gca>Aca		sodium channel, voltage-gated, type I, alpha subunit	Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)						151	137	141					2																	166900451		2203	4300	6503	SO:0001583	missense	6323					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:166900451C>T	AB093548	CCDS33316.1, CCDS54413.1, CCDS54414.1	2q24.3	2014-09-17	2007-01-23		ENSG00000144285	ENSG00000144285		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10585	protein-coding gene	gene with protein product		182389	"febrile convulsions 3"	SCN1, FEB3		8062593, 16382098, 11823106	Standard	NM_006920		Approved	Nav1.1, GEFSP2, HBSCI, NAC1, SMEI	uc021vsb.1	P35498	OTTHUMG00000044173	ENST00000303395.4:c.1771G>A	2.37:g.166900451C>T	ENSP00000303540:p.Ala591Thr					AC010127.3_ENST00000595268.1_RNA|AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000409050.1_Missense_Mutation_p.A591T|AC010127.3_ENST00000599041.1_RNA|SCN1A_ENST00000303395.4_Missense_Mutation_p.A591T|SCN1A_ENST00000375405.3_Missense_Mutation_p.A591T	p.A591T	NM_001165963.1|NM_001202435.1	NP_001159435.1|NP_001189364.1	P35498	SCN1A_HUMAN			11	1788	-			591					E9PG49|Q16172|Q585T7|Q8IUJ6|Q96LA3|Q9C008	Missense_Mutation	SNP	ENST00000303395.4	37	c.1771G>A	CCDS54413.1	.	.	.	.	.	.	.	.	.	.	C	18.65	3.670151	0.67814	.	.	ENSG00000144285	ENST00000423058;ENST00000303395;ENST00000375405;ENST00000409050	D;D;D;D	0.98512	-4.97;-4.97;-4.97;-4.97	5.37	4.49	0.54785	Domain of unknown function DUF3451 (1);	0.084144	0.51477	N	0.000088	D	0.98745	0.9578	M	0.92412	3.305	0.54753	D	0.999984	D;D;P	0.65815	0.964;0.995;0.814	P;P;B	0.54924	0.617;0.764;0.34	D	0.98621	1.0667	10	0.46703	T	0.11	.	13.7837	0.63097	0.0:0.926:0.0:0.074	.	591;591;591	P35498-2;E9PG49;P35498	.;.;SCN1A_HUMAN	T	591	ENSP00000407030:A591T;ENSP00000303540:A591T;ENSP00000364554:A591T;ENSP00000386312:A591T	ENSP00000303540:A591T	A	-	1	0	SCN1A	166608697	1.000000	0.71417	1.000000	0.80357	0.917000	0.54804	7.773000	0.85462	1.256000	0.44068	0.561000	0.74099	GCA		0.517	SCN1A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102661.1	NM_006920		6	236	0	0	0	0.217242	0	6	236					T	166900451	C	T	166900451	3	4	25	1	0	0	0	0	1	0	0	0	13914	768	27	1	4322	1	SCN1A	2	166900451	Missense_Mutation	SNP	C	TCGA-CH-5753-01A-11D-1576-08	25426795	166900451	76298922	10	1076											
TTN	7273	broad.mit.edu	37	chr2	179498718	179498718	+	Frame_Shift_Del	DEL	T	T	-																															tttgaaccagactacatgcaTtttttcatgagaaagttcac																										TCGA-CH-5753-01A-11D-1576-08	TCGA-CH-5753-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05a8fbba-61ac-42a4-b375-87f3a671446b	c1987c4d-84f8-4464-93ad-7e53fd4a6a11	g.chr2:179498718delT	ENST00000591111.1	-	181	37809	c.37585delA	c.(37585-37587)atgfs	p.M12529fs	TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000418062.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000589042.1_Frame_Shift_Del_p.M14170fs|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000460472.2_Frame_Shift_Del_p.M5105fs|TTN_ENST00000342175.6_Frame_Shift_Del_p.M5297fs|TTN_ENST00000359218.5_Frame_Shift_Del_p.M5230fs|TTN_ENST00000342992.6_Frame_Shift_Del_p.M11602fs			Q8WZ42	TITIN_HUMAN	titin	12529	Ig-like 83.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ACTACATGCATTTTTTCATGA	0.363																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(42508-42510)tgfs		titin							246	230	235					2																	179498718		1865	4098	5963	SO:0001589	frameshift_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179498718delT	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.37585delA	2.37:g.179498718delT	ENSP00000465570:p.Met12529fs					TTN_ENST00000342175.6_Frame_Shift_Del_p.M5297fs|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Frame_Shift_Del_p.M5105fs|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000591111.1_Frame_Shift_Del_p.M12529fs|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000359218.5_Frame_Shift_Del_p.M5230fs|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000342992.6_Frame_Shift_Del_p.M11602fs	p.M14170fs	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		231	42732	-			12529			Fibronectin type-III 2.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Frame_Shift_Del	DEL	ENST00000591111.1	37	c.42508delA																																																																																					0.363	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		249	403						249	403	---	---	---	---	-	179498718	T	-	179498718	7	5	25	1	0	1	0	1	0	0	0	0	16732	1493	52	0	65713	0	TTN	2	179498718	Frame_Shift_Del	DEL	T	TCGA-CH-5753-01A-11D-1576-08	12598267	179498718	63700655	11	1077											
MTMR14	64419	broad.mit.edu	37	chr3	9714410	9714410	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ggacaaagcccagcgctatgCcgacttcactctcctctcca	9	8	7	17	2	3	0	1	0	2	0	5	2	3	1	4	1	3	1	4	1	2	2			TCGA-CH-5753-01A-11D-1576-08	TCGA-CH-5753-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05a8fbba-61ac-42a4-b375-87f3a671446b	c1987c4d-84f8-4464-93ad-7e53fd4a6a11	g.chr3:9714410C>T	ENST00000296003.4	+	7	841	c.719C>T	c.(718-720)gCc>gTc	p.A240V	MTMR14_ENST00000353332.5_Missense_Mutation_p.A240V|MTMR14_ENST00000351233.5_Missense_Mutation_p.A240V|MTMR14_ENST00000420925.1_Intron	NM_001077525.2	NP_001070993.1	Q8NCE2	MTMRE_HUMAN	myotubularin related protein 14	240					phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|perinuclear region of cytoplasm (GO:0048471)|ruffle (GO:0001726)	phosphatidylinositol-3-phosphatase activity (GO:0004438)|protein tyrosine phosphatase activity (GO:0004725)			breast(1)|endometrium(3)|kidney(2)|lung(10)|skin(3)|upper_aerodigestive_tract(2)	21	Medulloblastoma(99;0.227)					CAGCGCTATGCCGACTTCACT	0.542																																						ENST00000296003.4																			0				breast(1)|endometrium(3)|kidney(2)|lung(10)|skin(3)|upper_aerodigestive_tract(2)	21						c.(718-720)gCc>gTc		myotubularin related protein 14							151	149	150					3																	9714410		2019	4172	6191	SO:0001583	missense	64419					perinuclear region of cytoplasm|ruffle	phosphatidylinositol-3-phosphatase activity|protein tyrosine phosphatase activity	g.chr3:9714410C>T	BC001674	CCDS43043.1, CCDS43044.1, CCDS43045.1	3p26	2011-06-09	2006-12-18	2006-12-18	ENSG00000163719	ENSG00000163719		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"	26190	protein-coding gene	gene with protein product	"egg-derived tyrosine phosphatase homolog (Drosophila)"	611089	"chromosome 3 open reading frame 29"	C3orf29		15186772	Standard	NM_022485		Approved	FLJ22405, FLJ90311, hJumpy, hEDTP	uc003brz.3	Q8NCE2	OTTHUMG00000155111	ENST00000296003.4:c.719C>T	3.37:g.9714410C>T	ENSP00000296003:p.Ala240Val					MTMR14_ENST00000420925.1_Intron|MTMR14_ENST00000353332.5_Missense_Mutation_p.A240V|MTMR14_ENST00000351233.5_Missense_Mutation_p.A240V	p.A240V	NM_001077525.2	NP_001070993.1	Q8NCE2	MTMRE_HUMAN			7	841	+	Medulloblastoma(99;0.227)		240					Q0JTH5|Q0JU83|Q6PIZ4|Q6QE21|Q86VK9|Q8IYK1|Q8TCM7|Q9H6C0	Missense_Mutation	SNP	ENST00000296003.4	37	c.719C>T	CCDS43043.1	.	.	.	.	.	.	.	.	.	.	C	36	5.659344	0.96734	.	.	ENSG00000163719	ENST00000353332;ENST00000296003;ENST00000351233;ENST00000419048	D;D;D	0.90133	-2.62;-2.62;-2.62	5.59	5.59	0.84812	.	0.047393	0.85682	D	0.000000	D	0.93200	0.7834	L	0.60455	1.87	0.80722	D	1	D;P;P	0.55385	0.971;0.692;0.514	P;P;B	0.55749	0.783;0.466;0.197	D	0.93549	0.6885	10	0.72032	D	0.01	-5.5846	19.216	0.93778	0.0:1.0:0.0:0.0	.	240;240;240	Q8NCE2-3;Q8NCE2-2;Q8NCE2	.;.;MTMRE_HUMAN	V	240	ENSP00000323462:A240V;ENSP00000296003:A240V;ENSP00000334070:A240V	ENSP00000296003:A240V	A	+	2	0	MTMR14	9689410	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.039000	0.76544	2.625000	0.88918	0.655000	0.94253	GCC		0.542	MTMR14-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000338435.1	NM_022485		5	167	0	0	0	0.217242	0	5	167					T	9714410	C	T	9714410	3	4	25	1	0	0	0	0	1	0	0	0	9942	739	26	3	745	3	MTMR14	3	9714410	Missense_Mutation	SNP	C	TCGA-CH-5753-01A-11D-1576-08		9714410	188308020	12	1078											
DOCK3	1795	broad.mit.edu	37	chr3	50879110	50879110	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ttatgctttgttttaggttgGtacagaggagtttcaacaaa	11	16	10	4	0	1	1	1	0	0	1	1	2	1	2	0	3	3	5	0	3	5	7			TCGA-CH-5753-01A-11D-1576-08	TCGA-CH-5753-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05a8fbba-61ac-42a4-b375-87f3a671446b	c1987c4d-84f8-4464-93ad-7e53fd4a6a11	g.chr3:50879110G>A	ENST00000266037.9	+	3	149	c.126G>A	c.(124-126)tgG>tgA	p.W42*		NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	42	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)	p.W42*(2)|p.W31*(1)		breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		TTTTAGGTTGGTACAGAGGAG	0.294																																						ENST00000266037.9																			3	Substitution - Nonsense(3)	p.W42*(2)|p.W31*(1)	prostate(3)	breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45						c.(124-126)tgG>tgA		dedicator of cytokinesis 3							66	55	58					3																	50879110		1823	4070	5893	SO:0001587	stop_gained	1795					cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding	g.chr3:50879110G>A	AB002297	CCDS46835.1	3p21	2008-02-01			ENSG00000088538	ENSG00000088538			2989	protein-coding gene	gene with protein product		603123	"dedicator of cyto-kinesis 3"			9205841	Standard	NM_004947		Approved	KIAA0299, MOCA, PBP	uc011bds.2	Q8IZD9	OTTHUMG00000156892	ENST00000266037.9:c.126G>A	3.37:g.50879110G>A	ENSP00000266037:p.Trp42*						p.W42*	NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)	3	149	+			42			SH3.		O15017	Nonsense_Mutation	SNP	ENST00000266037.9	37	c.126G>A	CCDS46835.1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.442230	0.83993	.	.	ENSG00000088538	ENST00000266037	.	.	.	5.4	5.4	0.78164	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.6818	0.69023	0.0:0.0:1.0:0.0	.	.	.	.	X	42	.	ENSP00000266037:W42X	W	+	3	0	DOCK3	50854114	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.519000	0.53458	2.528000	0.85240	0.650000	0.86243	TGG		0.294	DOCK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346478.5	NM_004947		7	10	0	0	0	0.335167	0	7	10					A	50879110	G	A	50879110	4	1	25	1	0	0	0	0	0	1	0	0	4688	1270	44	3	136	3	DOCK3	3	50879110	Nonsense_Mutation	SNP	G	TCGA-CH-5753-01A-11D-1576-08	41164700	50879110	147143320	13	1079											
THAP9	79725	broad.mit.edu	37	chr4	83838140	83838141	+	Frame_Shift_Ins	INS	-	-	T																															tccaggtttcaacagcaacaINSttttttcttttcttcaacga																										TCGA-CH-5753-01A-11D-1576-08	TCGA-CH-5753-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05a8fbba-61ac-42a4-b375-87f3a671446b	c1987c4d-84f8-4464-93ad-7e53fd4a6a11	g.chr4:83838140_83838141insT	ENST00000302236.5	+	5	826_827	c.775_776insT	c.(775-777)attfs	p.I259fs	LIN54_ENST00000505905.1_Intron	NM_024672.4	NP_078948.3	Q9H5L6	THAP9_HUMAN	THAP domain containing 9	259					DNA integration (GO:0015074)|DNA recombination (GO:0006310)|transposition, DNA-mediated (GO:0006313)		metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|transferase activity (GO:0016740)|transposase activity (GO:0004803)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(13)|lung(5)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(3)	33		Hepatocellular(203;0.114)				CAACAGCAACATTTTTTCTTTT	0.361																																						ENST00000302236.5																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(13)|lung(5)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(3)	33						c.(775-777)tttfs		THAP domain containing 9																																				SO:0001589	frameshift_variant	79725						DNA binding|metal ion binding	g.chr4:83838140_83838141insT	AK091412	CCDS3598.1	4q21.3	2013-01-25			ENSG00000168152	ENSG00000168152		"THAP (C2CH-type zinc finger) domain containing"	23192	protein-coding gene	gene with protein product		612537				12575992	Standard	NM_024672		Approved	FLJ34093	uc003hnt.2	Q9H5L6	OTTHUMG00000130291	ENST00000302236.5:c.781dupT	4.37:g.83838146_83838146dupT	ENSP00000305533:p.Ile259fs					LIN54_ENST00000505905.1_Intron	p.F259fs	NM_024672.4	NP_078948.3	Q9H5L6	THAP9_HUMAN			5	826_827	+		Hepatocellular(203;0.114)	259					B3KRE2|Q59AC9	Frame_Shift_Ins	INS	ENST00000302236.5	37	c.775_776insT	CCDS3598.1																																																																																				0.361	THAP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252633.1	NM_024672		30	437						30	437	---	---	---	---	T	83838141	-	T	83838140	7	5	25	1	0	1	1	0	0	0	0	0	15848	217	8	0	793	0	THAP9	4	83838140	Frame_Shift_Ins	INS	-	TCGA-CH-5753-01A-11D-1576-08		83838140	107316136	14	1080											
PDHA2	5161	broad.mit.edu	37	chr4	96761615	96761615	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ttgcgtgggccttgaggccgGcataaacccctcggatcacg	7	8	13	13	4	1	1	1	1	0	0	2	2	1	2	4	4	2	1	4	4	2	3			TCGA-CH-5753-01A-11D-1576-08	TCGA-CH-5753-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05a8fbba-61ac-42a4-b375-87f3a671446b	c1987c4d-84f8-4464-93ad-7e53fd4a6a11	g.chr4:96761615G>A	ENST00000295266.4	+	1	377	c.314G>A	c.(313-315)gGc>gAc	p.G105D		NM_005390.4	NP_005381.1	P29803	ODPAT_HUMAN	pyruvate dehydrogenase (lipoamide) alpha 2	105					glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|pyruvate metabolic process (GO:0006090)|tricarboxylic acid cycle (GO:0006099)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	pyruvate dehydrogenase (acetyl-transferring) activity (GO:0004739)			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(23)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	46		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.23e-06)		CTTGAGGCCGGCATAAACCCC	0.517																																						ENST00000295266.4																			0				NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(23)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	46						c.(313-315)gGc>gAc		pyruvate dehydrogenase (lipoamide) alpha 2	NADH(DB00157)						129	113	119					4																	96761615		2203	4300	6503	SO:0001583	missense	5161				glycolysis	mitochondrial matrix	pyruvate dehydrogenase (acetyl-transferring) activity	g.chr4:96761615G>A		CCDS3644.1	4q22-q23	2009-11-09			ENSG00000163114	ENSG00000163114	1.2.4.1		8807	protein-coding gene	gene with protein product		179061		PDHAL			Standard	NM_005390		Approved		uc003htr.4	P29803	OTTHUMG00000130990	ENST00000295266.4:c.314G>A	4.37:g.96761615G>A	ENSP00000295266:p.Gly105Asp						p.G105D	NM_005390.4	NP_005381.1	P29803	ODPAT_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;1.23e-06)	1	377	+		Hepatocellular(203;0.114)	105					B2R9Q3|Q0VDI5|Q4VC02|Q6NXQ1	Missense_Mutation	SNP	ENST00000295266.4	37	c.314G>A	CCDS3644.1	.	.	.	.	.	.	.	.	.	.	G	10.75	1.439043	0.25900	.	.	ENSG00000163114	ENST00000295266	D	0.97114	-4.25	4.91	4.05	0.47172	Dehydrogenase, E1 component (1);	0.263878	0.35179	N	0.003394	D	0.97408	0.9152	L	0.56124	1.755	0.21220	N	0.999757	D	0.61697	0.99	D	0.69824	0.966	D	0.92952	0.6381	10	0.87932	D	0	-17.1313	11.773	0.51970	0.0:0.3428:0.6572:0.0	.	105	P29803	ODPAT_HUMAN	D	105	ENSP00000295266:G105D	ENSP00000295266:G105D	G	+	2	0	PDHA2	96980638	1.000000	0.71417	0.093000	0.20910	0.022000	0.10575	3.757000	0.55212	1.408000	0.46895	0.467000	0.42956	GGC		0.517	PDHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253608.1			6	205	0	0	0	0.248553	0	6	205					A	96761615	G	A	96761615	3	1	25	1	0	0	0	0	1	0	0	0	11665	1203	42	3	316	3	PDHA2	4	96761615	Missense_Mutation	SNP	G	TCGA-CH-5753-01A-11D-1576-08	12923475	96761615	94392661	15	1081											
PLK4	10733	broad.mit.edu	37	chr4	128814966	128814966	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaattacccaacgagagagaGagcatctttcaacagaatgg	17	7	9	8	1	2	3	1	0	1	3	2	6	2	3	1	1	4	1	1	1	5	2			TCGA-CH-5753-01A-11D-1576-08	TCGA-CH-5753-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05a8fbba-61ac-42a4-b375-87f3a671446b	c1987c4d-84f8-4464-93ad-7e53fd4a6a11	g.chr4:128814966G>A	ENST00000270861.5	+	13	2766	c.2492G>A	c.(2491-2493)aGa>aAa	p.R831K	RNU6-583P_ENST00000516012.1_RNA|PLK4_ENST00000513090.1_Missense_Mutation_p.R799K|PLK4_ENST00000514379.1_Missense_Mutation_p.R790K|PLK4_ENST00000515069.1_Missense_Mutation_p.R753K|PLK4_ENST00000507249.1_Missense_Mutation_p.R770K	NM_014264.4	NP_055079.3	O00444	PLK4_HUMAN	polo-like kinase 4	831					centriole replication (GO:0007099)|de novo centriole assembly (GO:0098535)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|positive regulation of centriole replication (GO:0046601)|protein phosphorylation (GO:0006468)|trophoblast giant cell differentiation (GO:0060707)	centriole (GO:0005814)|centrosome (GO:0005813)|cytosol (GO:0005829)|deuterosome (GO:0098536)|nucleolus (GO:0005730)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.R831K(2)		central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	31						ACGAGAGAGAGAGCATCTTTC	0.418																																					Colon(135;508 1718 19061 31832 42879)	ENST00000270861.5																			2	Substitution - Missense(2)	p.R831K(2)	prostate(2)	central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	31						c.(2491-2493)aGa>aAa		polo-like kinase 4							110	109	109					4																	128814966		2203	4300	6503	SO:0001583	missense	0				G2/M transition of mitotic cell cycle|positive regulation of centriole replication|trophoblast giant cell differentiation	centriole|cleavage furrow|cytosol|nucleolus	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr4:128814966G>A	Y13115	CCDS3735.1, CCDS54803.1, CCDS54804.1	4q27-q28	2013-01-18	2010-06-24	2004-01-28	ENSG00000142731	ENSG00000142731			11397	protein-coding gene	gene with protein product		605031	"serine/threonine kinase 18", "polo-like kinase 4 (Drosophila)"	STK18			Standard	NM_014264		Approved	Sak	uc003ifo.3	O00444	OTTHUMG00000133301	ENST00000270861.5:c.2492G>A	4.37:g.128814966G>A	ENSP00000270861:p.Arg831Lys					PLK4_ENST00000513090.1_Missense_Mutation_p.R799K|PLK4_ENST00000514379.1_Missense_Mutation_p.R790K|PLK4_ENST00000507249.1_Missense_Mutation_p.R770K|PLK4_ENST00000515069.1_Missense_Mutation_p.R753K	p.R831K	NM_014264.4	NP_055079.3	O00444	PLK4_HUMAN			13	2766	+			831					B2RAL0|B7Z837|B7Z8G7|Q8IYF0|Q96Q95|Q9UD84|Q9UDE2	Missense_Mutation	SNP	ENST00000270861.5	37	c.2492G>A	CCDS3735.1	.	.	.	.	.	.	.	.	.	.	G	1.774	-0.483697	0.04383	.	.	ENSG00000142731	ENST00000270861;ENST00000515069;ENST00000513090;ENST00000507249;ENST00000514379;ENST00000508113	T;T;T;T;T;T	0.66815	-0.09;-0.08;-0.23;-0.08;-0.16;1.0	4.22	-2.51	0.06365	.	1.696960	0.03229	N	0.178719	T	0.50446	0.1616	N	0.22421	0.69	0.09310	N	1	B;B	0.18461	0.028;0.007	B;B	0.18263	0.021;0.009	T	0.29212	-1.0019	10	0.30854	T	0.27	0.0884	7.2048	0.25901	0.0892:0.6169:0.1353:0.1586	.	799;831	O00444-2;O00444	.;PLK4_HUMAN	K	831;753;799;770;790;77	ENSP00000270861:R831K;ENSP00000421774:R753K;ENSP00000427554:R799K;ENSP00000423412:R770K;ENSP00000423582:R790K;ENSP00000427568:R77K	ENSP00000270861:R831K	R	+	2	0	PLK4	129034416	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.460000	0.02368	-0.535000	0.06307	0.591000	0.81541	AGA		0.418	PLK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257095.3			9	306	0	0	0	0.307466	0	9	306					A	128814966	G	A	128814966	3	1	25	1	0	0	0	0	1	0	0	0	12098	942	33	3	2542	3	PLK4	4	128814966	Missense_Mutation	SNP	G	TCGA-CH-5753-01A-11D-1576-08	32053351	128814966	62339310	16	1082											
TLL1	7092	broad.mit.edu	37	chr4	166986834	166986834	+	Splice_Site	DEL	G	G	-																															gataaccacatttttttctaGgtttgcaaatatgattatgt																										TCGA-CH-5753-01A-11D-1576-08	TCGA-CH-5753-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05a8fbba-61ac-42a4-b375-87f3a671446b	c1987c4d-84f8-4464-93ad-7e53fd4a6a11	g.chr4:166986834delG	ENST00000061240.2	+	16	2654		c.e16-1		TLL1_ENST00000507499.1_Splice_Site	NM_012464.4	NP_036596.3	O43897	TLL1_HUMAN	tolloid-like 1						cell differentiation (GO:0030154)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)		GBM - Glioblastoma multiforme(119;0.103)		TTTTTTTCTAGGTTTGCAAAT	0.363																																						ENST00000061240.2																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	77						c.e16-1		tolloid-like 1							97	98	98					4																	166986834		2202	4297	6499	SO:0001630	splice_region_variant	7092				cell differentiation|proteolysis|skeletal system development	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding	g.chr4:166986834delG	AF282732	CCDS3811.1, CCDS56342.1	4q32-q33	2008-07-29			ENSG00000038295	ENSG00000038295			11843	protein-coding gene	gene with protein product		606742				10516436	Standard	NM_012464		Approved		uc003irh.2	O43897	OTTHUMG00000161112	ENST00000061240.2:c.2008-1G>-	4.37:g.166986834delG						TLL1_ENST00000507499.1_Splice_Site		NM_012464.4	NP_036596.3	O43897	TLL1_HUMAN		GBM - Glioblastoma multiforme(119;0.103)	16	2654	+	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)						B2RMU2|Q96AN3|Q9NQS4	Splice_Site	DEL	ENST00000061240.2	37		CCDS3811.1																																																																																				0.363	TLL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363821.1		Intron	7	224						7	224	---	---	---	---	-	166986834	G	-	166986834	8	5	25	1	0	1	0	1	0	0	1	0	15942	1014	35	0	2069	0	TLL1	4	166986834	Splice_Site	DEL	G	TCGA-CH-5753-01A-11D-1576-08	38171868	166986834	24167442	17	1083											
F11	2160	broad.mit.edu	37	chr4	187197050	187197050	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cctgtgcactttctaatctgGgtaattatcgacttcttgat	8	17	7	9	1	3	1	0	1	3	0	4	2	3	1	1	1	1	2	1	1	3	6			TCGA-CH-5753-01A-11D-1576-08	TCGA-CH-5753-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05a8fbba-61ac-42a4-b375-87f3a671446b	c1987c4d-84f8-4464-93ad-7e53fd4a6a11	g.chr4:187197050G>T	ENST00000403665.2	+	6	947	c.595G>T	c.(595-597)Gct>Tct	p.A199S	F11_ENST00000264692.4_Splice_Site_p.A147S	NM_000128.3	NP_000119.1	P03951	FA11_HUMAN	coagulation factor XI	199					blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|plasminogen activation (GO:0031639)|positive regulation of fibrinolysis (GO:0051919)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|serine-type aminopeptidase activity (GO:0070009)|serine-type endopeptidase activity (GO:0004252)	p.A199S(1)		NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(15)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	32		all_cancers(14;6.2e-52)|all_epithelial(14;1.62e-38)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Colorectal(36;0.0161)|all_neural(102;0.202)		OV - Ovarian serous cystadenocarcinoma(60;2.13e-11)|BRCA - Breast invasive adenocarcinoma(30;4.59e-06)|GBM - Glioblastoma multiforme(59;0.000149)|STAD - Stomach adenocarcinoma(60;0.000314)|LUSC - Lung squamous cell carcinoma(40;0.00112)|READ - Rectum adenocarcinoma(43;0.176)	Coagulation Factor IX(DB00100)	TTCTAATCTGGGTAATTATCG	0.408																																						ENST00000264692.4																			1	Substitution - Missense(1)	p.A199S(1)	prostate(1)	NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(15)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	32						c.e6+1		coagulation factor XI	Coagulation Factor IX(DB00100)						92	83	86					4																	187197050		2203	4300	6503	SO:0001630	splice_region_variant	2160				blood coagulation, intrinsic pathway|plasminogen activation|positive regulation of fibrinolysis	extracellular space|plasma membrane	heparin binding|serine-type endopeptidase activity	g.chr4:187197050G>T	M13142	CCDS3847.1	4q35	2008-08-01	2008-08-01		ENSG00000088926	ENSG00000088926	3.4.21.27		3529	protein-coding gene	gene with protein product	"plasma thromboplastin antecedent"	264900					Standard	NM_000128		Approved	FXI	uc003iza.1	P03951	OTTHUMG00000150311	ENST00000403665.2:c.595+1G>T	4.37:g.187197050G>T						F11_ENST00000403665.2_Splice_Site_p.A199_splice	p.A147_splice			P03951	FA11_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;2.13e-11)|BRCA - Breast invasive adenocarcinoma(30;4.59e-06)|GBM - Glioblastoma multiforme(59;0.000149)|STAD - Stomach adenocarcinoma(60;0.000314)|LUSC - Lung squamous cell carcinoma(40;0.00112)|READ - Rectum adenocarcinoma(43;0.176)	6	772	+		all_cancers(14;6.2e-52)|all_epithelial(14;1.62e-38)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Colorectal(36;0.0161)|all_neural(102;0.202)	199			Apple 2.		D3DP64|Q4W5C2|Q9Y495	Splice_Site	SNP	ENST00000403665.2	37	c.439_splice	CCDS3847.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.11|16.11	3.030596|3.030596	0.54790|0.54790	.|.	.|.	ENSG00000088926|ENSG00000088926	ENST00000403665;ENST00000264692|ENST00000452239	D;D|.	0.88896|.	-2.44;-2.44|.	5.46|5.46	5.46|5.46	0.80206|0.80206	.|.	0.154929|.	0.44902|.	D|.	0.000412|.	T|T	0.73666|0.73666	0.3616|0.3616	M|M	0.67953|0.67953	2.075|2.075	0.39036|0.39036	D|D	0.960047|0.960047	B|.	0.30634|.	0.288|.	B|.	0.31191|.	0.125|.	T|T	0.74375|0.74375	-0.3686|-0.3686	10|5	0.66056|.	D|.	0.02|.	.|.	17.0768|17.0768	0.86588|0.86588	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	199|.	P03951|.	FA11_HUMAN|.	S|C	199;147|14	ENSP00000384957:A199S;ENSP00000264692:A147S|.	ENSP00000264692:A147S|.	A|W	+|+	1|3	0|0	F11|F11	187434044|187434044	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.232000|0.232000	0.25224|0.25224	4.311000|4.311000	0.59147|0.59147	2.536000|2.536000	0.85505|0.85505	0.655000|0.655000	0.94253|0.94253	GCT|TGG		0.408	F11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317519.4		Missense_Mutation	18	40	1	0	2.48551e-13	0.520397	3.15325e-13	18	40					T	187197050	G	T	187197050	5	4	25	1	0	0	0	0	0	0	1	0	5337	1246	43	5	613	5	F11	4	187197050	Splice_Site	SNP	G	TCGA-CH-5753-01A-11D-1576-08	20210216	187197050	3957226	18	1084											
FBXO4	26272	broad.mit.edu	37	chr5	41927295	41927296	+	Frame_Shift_Del	DEL	TT	TT	-																															ctcttccagatctagaaatcTtaaaaaagcctatatctgag																										TCGA-CH-5753-01A-11D-1576-08	TCGA-CH-5753-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05a8fbba-61ac-42a4-b375-87f3a671446b	c1987c4d-84f8-4464-93ad-7e53fd4a6a11	g.chr5:41927295_41927296delTT	ENST00000281623.3	+	2	426_427	c.370_371delTT	c.(370-372)ttafs	p.L124fs	FBXO4_ENST00000296812.2_Frame_Shift_Del_p.L124fs|FBXO4_ENST00000509134.1_Frame_Shift_Del_p.L124fs	NM_012176.2	NP_036308.1	Q9UKT5	FBX4_HUMAN	F-box protein 4	124					positive regulation of protein ubiquitination (GO:0031398)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|telomere maintenance (GO:0000723)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|SCF ubiquitin ligase complex (GO:0019005)|ubiquitin ligase complex (GO:0000151)	protein homodimerization activity (GO:0042803)|ubiquitin-protein transferase activity (GO:0004842)			breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(11)|prostate(1)|stomach(1)|urinary_tract(2)	27		Lung NSC(810;4.15e-05)|Breast(839;0.00093)|Ovarian(839;0.00965)|Myeloproliferative disorder(839;0.0255)|all_neural(839;0.0604)				TCTAGAAATCTTAAAAAAGCCT	0.351																																						ENST00000296812.2																			0				breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(11)|prostate(1)|stomach(1)|urinary_tract(2)	27						c.(370-372)afs		F-box protein 4																																				SO:0001589	frameshift_variant	26272				positive regulation of protein ubiquitination|protein polyubiquitination|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|telomere maintenance|ubiquitin-dependent protein catabolic process	cytoplasm|SCF ubiquitin ligase complex	protein binding|protein homodimerization activity|ubiquitin-protein ligase activity	g.chr5:41927295_41927296delTT	AF129534	CCDS3938.1, CCDS3939.1, CCDS75238.1	5p12	2008-02-05	2004-06-15		ENSG00000151876	ENSG00000151876		"F-boxes /  "other""	13583	protein-coding gene	gene with protein product		609090	"F-box only protein 4"			10531035, 10531037	Standard	NM_033484		Approved	FBX4	uc003jmq.3	Q9UKT5	OTTHUMG00000094799	ENST00000281623.3:c.370_371delTT	5.37:g.41927295_41927296delTT	ENSP00000281623:p.Leu124fs					FBXO4_ENST00000281623.3_Frame_Shift_Del_p.L124fs|FBXO4_ENST00000509134.1_Frame_Shift_Del_p.L124fs	p.L124fs	NM_033484.2	NP_277019.1	Q9UKT5	FBX4_HUMAN			2	426_427	+		Lung NSC(810;4.15e-05)|Breast(839;0.00093)|Ovarian(839;0.00965)|Myeloproliferative disorder(839;0.0255)|all_neural(839;0.0604)	124					Q68CU8|Q86VT8|Q9UK98	Frame_Shift_Del	DEL	ENST00000281623.3	37	c.370_371delTT	CCDS3938.1																																																																																				0.351	FBXO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211614.1			18	360						18	360	---	---	---	---	-	41927296	TT	-	41927295	7	5	25	1	0	1	0	1	0	0	0	0	5748	1606	56	0	376	0	FBXO4	5	41927295	Frame_Shift_Del	DEL	TT	TCGA-CH-5753-01A-11D-1576-08		41927295	138987965	19	1085											
SKIV2L2	23517	broad.mit.edu	37	chr5	54603876	54603876	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggagatgagctgttcagcgTgttcgagggcgactcgacca	8	8	15	10	5	1	2	1	1	0	1	3	6	1	2	1	2	2	3	1	2	0	2			TCGA-CH-5753-01A-11D-1576-08	TCGA-CH-5753-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05a8fbba-61ac-42a4-b375-87f3a671446b	c1987c4d-84f8-4464-93ad-7e53fd4a6a11	g.chr5:54603876T>A	ENST00000230640.5	+	1	289	c.35T>A	c.(34-36)gTg>gAg	p.V12E	DHX29_ENST00000251636.5_5'Flank|SKIV2L2_ENST00000504388.1_3'UTR|SKIV2L2_ENST00000545714.1_5'UTR	NM_015360.4	NP_056175.3	P42285	SK2L2_HUMAN	superkiller viralicidic activity 2-like 2 (S. cerevisiae)	12					maturation of 5.8S rRNA (GO:0000460)|mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)	p.V12E(1)		NS(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|lung(12)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Lung NSC(810;0.000744)|Breast(144;0.181)|Prostate(74;0.194)				CTGTTCAGCGTGTTCGAGGGC	0.582																																					Melanoma(2;92 134 23744 29976 33782)	ENST00000230640.5																			1	Substitution - Missense(1)	p.V12E(1)	prostate(1)	NS(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|lung(12)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						c.(34-36)gTg>gAg		superkiller viralicidic activity 2-like 2 (S. cerevisiae)							102	92	96					5																	54603876		2203	4300	6503	SO:0001583	missense	23517				maturation of 5.8S rRNA	catalytic step 2 spliceosome|nucleolus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding	g.chr5:54603876T>A	D29641	CCDS3967.1	5q11.2	2008-11-25	2005-02-18	2005-02-18	ENSG00000039123	ENSG00000039123			18734	protein-coding gene	gene with protein product	"functional spliceosome-associated protein 118"		"KIAA0052"	KIAA0052			Standard	NM_015360		Approved	Mtr4, Dob1, fSAP118	uc003jpy.4	P42285	OTTHUMG00000097019	ENST00000230640.5:c.35T>A	5.37:g.54603876T>A	ENSP00000230640:p.Val12Glu					SKIV2L2_ENST00000504388.1_3'UTR|SKIV2L2_ENST00000545714.1_5'UTR	p.V12E	NM_015360.4	NP_056175.3	P42285	SK2L2_HUMAN			1	289	+		Lung NSC(810;0.000744)|Breast(144;0.181)|Prostate(74;0.194)	12					Q2M386|Q6MZZ8|Q6P170|Q8N5R0|Q8TAG2	Missense_Mutation	SNP	ENST00000230640.5	37	c.35T>A	CCDS3967.1	.	.	.	.	.	.	.	.	.	.	T	22.7	4.329389	0.81690	.	.	ENSG00000039123	ENST00000230640	T	0.36699	1.24	5.36	5.36	0.76844	.	0.000000	0.85682	D	0.000000	T	0.39655	0.1086	M	0.64404	1.975	0.80722	D	1	P	0.35575	0.51	B	0.37144	0.242	T	0.40905	-0.9538	10	0.87932	D	0	.	13.7443	0.62865	0.0:0.0:0.0:1.0	.	12	P42285	SK2L2_HUMAN	E	12	ENSP00000230640:V12E	ENSP00000230640:V12E	V	+	2	0	SKIV2L2	54639633	1.000000	0.71417	1.000000	0.80357	0.492000	0.33523	4.553000	0.60753	2.254000	0.74563	0.459000	0.35465	GTG		0.582	SKIV2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214108.1			23	110	0	0	0	0.624587	0	23	110					A	54603876	T	A	54603876	3	1	25	1	0	0	0	0	1	0	0	0	14360	1696	59	5	37	5	SKIV2L2	5	54603876	Missense_Mutation	SNP	T	TCGA-CH-5753-01A-11D-1576-08	12676581	54603876	126311384	20	1086											
NR2F1	7025	broad.mit.edu	37	chr5	92923847	92923847	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgcgcgcctgctcttcagcGccgtcgagtgggcccgcaac	4	6	13	18	7	2	0	1	0	1	0	3	1	2	0	4	1	3	2	4	1	1	1			TCGA-CH-5753-01A-11D-1576-08	TCGA-CH-5753-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05a8fbba-61ac-42a4-b375-87f3a671446b	c1987c4d-84f8-4464-93ad-7e53fd4a6a11	g.chr5:92923847G>A	ENST00000327111.3	+	2	2375	c.688G>A	c.(688-690)Gcc>Acc	p.A230T	NR2F1-AS1_ENST00000513055.1_RNA	NM_005654.4	NP_005645.1	P10589	COT1_HUMAN	nuclear receptor subfamily 2, group F, member 1	230					cerebral cortex regionalization (GO:0021796)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of neuron projection development (GO:0010977)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|retinoic acid-responsive element binding (GO:0044323)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)	p.A230T(1)		NS(1)|breast(1)|endometrium(4)|large_intestine(6)|lung(2)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2)	21		all_cancers(142;1.62e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0126)|Lung NSC(167;0.0155)|Ovarian(174;0.0218)|Prostate(281;0.173)|Colorectal(57;0.19)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0416)|all cancers(79;9.57e-18)		GCTCTTCAGCGCCGTCGAGTG	0.637																																						ENST00000327111.3																			1	Substitution - Missense(1)	p.A230T(1)	prostate(1)	NS(1)|breast(1)|endometrium(4)|large_intestine(6)|lung(2)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2)	21						c.(688-690)Gcc>Acc		nuclear receptor subfamily 2, group F, member 1							79	77	77					5																	92923847		2203	4300	6503	SO:0001583	missense	7025				negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	ligand-regulated transcription factor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription coactivator activity|zinc ion binding	g.chr5:92923847G>A	BC004154	CCDS4068.1	5q14	2013-01-16			ENSG00000175745	ENSG00000175745		"Nuclear hormone receptors"	7975	protein-coding gene	gene with protein product		132890		ERBAL3, TFCOUP1		8530078	Standard	NM_005654		Approved	EAR-3, COUP-TFI, TCFCOUP1, SVP44	uc003kkj.3	P10589	OTTHUMG00000119079	ENST00000327111.3:c.688G>A	5.37:g.92923847G>A	ENSP00000325819:p.Ala230Thr						p.A230T	NM_005654.4	NP_005645.1	P10589	COT1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (5;0.0416)|all cancers(79;9.57e-18)	2	2375	+		all_cancers(142;1.62e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0126)|Lung NSC(167;0.0155)|Ovarian(174;0.0218)|Prostate(281;0.173)|Colorectal(57;0.19)	230						Missense_Mutation	SNP	ENST00000327111.3	37	c.688G>A	CCDS4068.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.027109	0.75390	.	.	ENSG00000175745	ENST00000327111	D	0.96136	-3.92	4.47	4.47	0.54385	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	0.000000	0.85682	D	0.000000	D	0.95059	0.8400	N	0.20845	0.615	0.80722	D	1	D	0.71674	0.998	D	0.65573	0.936	D	0.95464	0.8545	10	0.46703	T	0.11	.	17.3064	0.87196	0.0:0.0:1.0:0.0	.	230	P10589	COT1_HUMAN	T	230	ENSP00000325819:A230T	ENSP00000325819:A230T	A	+	1	0	NR2F1	92949603	1.000000	0.71417	1.000000	0.80357	0.413000	0.31143	7.695000	0.84257	2.292000	0.77174	0.407000	0.27541	GCC		0.637	NR2F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239293.2	NM_005654		14	105	0	0	0	0.435327	0	14	105					A	92923847	G	A	92923847	3	1	25	1	0	0	0	0	1	0	0	0	10627	1087	38	1	694	1	NR2F1	5	92923847	Missense_Mutation	SNP	G	TCGA-CH-5753-01A-11D-1576-08	38319971	92923847	87991413	21	1087											
SRFBP1	153443	broad.mit.edu	37	chr5	121356088	121356088	+	Frame_Shift_Del	DEL	A	A	-																															tagtttcccttgagtcccagAagacacctgctgacccaaaa																										TCGA-CH-5753-01A-11D-1576-08	TCGA-CH-5753-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05a8fbba-61ac-42a4-b375-87f3a671446b	c1987c4d-84f8-4464-93ad-7e53fd4a6a11	g.chr5:121356088delA	ENST00000339397.4	+	6	730	c.658delA	c.(658-660)aagfs	p.K220fs		NM_152546.2	NP_689759.2			serum response factor binding protein 1											central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|skin(1)	15		all_cancers(142;0.0124)|Prostate(80;0.0322)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000227)|Epithelial(69;0.000365)|all cancers(49;0.00517)		TGAGTCCCAGAAGACACCTGC	0.403																																						ENST00000339397.4																			0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|skin(1)	15						c.(658-660)agfs		serum response factor binding protein 1							78	71	73					5																	121356088		1827	4078	5905	SO:0001589	frameshift_variant	153443				regulation of transcription, DNA-dependent|transcription, DNA-dependent	perinuclear region of cytoplasm		g.chr5:121356088delA	AK058015	CCDS43354.1	5q23.1	2006-12-21				ENSG00000151304			26333	protein-coding gene	gene with protein product	"BUD22 homolog (S. cerevisiae)"	610479				15492011	Standard	NM_152546		Approved	FLJ25286, p49, STRAP, BUD22, Rlb1	uc003kst.1	Q8NEF9		ENST00000339397.4:c.658delA	5.37:g.121356088delA	ENSP00000341324:p.Lys220fs						p.K220fs	NM_152546.2	NP_689759.2	Q8NEF9	SRFB1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000227)|Epithelial(69;0.000365)|all cancers(49;0.00517)	6	730	+		all_cancers(142;0.0124)|Prostate(80;0.0322)	220						Frame_Shift_Del	DEL	ENST00000339397.4	37	c.658delA	CCDS43354.1																																																																																				0.403	SRFBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371200.1	NM_152546		58	96						58	96	---	---	---	---	-	121356088	A	-	121356088	7	5	25	1	0	1	0	1	0	0	0	0	15143	247	9	0	680	0	SRFBP1	5	121356088	Frame_Shift_Del	DEL	A	TCGA-CH-5753-01A-11D-1576-08	28432241	121356088	59559172	22	1088											
HCRTR2	3062	broad.mit.edu	37	chr6	55039530	55039530	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acctgtggagggaatacctgCacccgaaagaatatgagtgg	13	7	13	8	1	0	2	0	1	0	1	0	5	0	4	3	3	2	1	3	3	5	2			TCGA-CH-5753-01A-11D-1576-08	TCGA-CH-5753-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05a8fbba-61ac-42a4-b375-87f3a671446b	c1987c4d-84f8-4464-93ad-7e53fd4a6a11	g.chr6:55039530C>A	ENST00000370862.3	+	1	481	c.145C>A	c.(145-147)Cac>Aac	p.H49N		NM_001526.3	NP_001517.2	O43614	OX2R_HUMAN	hypocretin (orexin) receptor 2	49					circadian sleep/wake cycle process (GO:0022410)|feeding behavior (GO:0007631)|neuropeptide signaling pathway (GO:0007218)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neuropeptide receptor activity (GO:0008188)|orexin receptor activity (GO:0016499)			breast(3)|endometrium(2)|kidney(1)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	46	Lung NSC(77;0.107)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			GGAATACCTGCACCCGAAAGA	0.552																																						ENST00000370862.3																			0				breast(3)|endometrium(2)|kidney(1)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	46						c.(145-147)Cac>Aac		hypocretin (orexin) receptor 2							151	128	136					6																	55039530		2203	4300	6503	SO:0001583	missense	3062				feeding behavior	integral to plasma membrane	neuropeptide receptor activity	g.chr6:55039530C>A	AF041245	CCDS4956.1	6p12.1	2012-09-20			ENSG00000137252	ENSG00000137252		"GPCR / Class A : Hypocretin (orexin) receptors"	4849	protein-coding gene	gene with protein product		602393				9491897	Standard	NM_001526		Approved	OX2R	uc003pcl.3	O43614	OTTHUMG00000016150	ENST00000370862.3:c.145C>A	6.37:g.55039530C>A	ENSP00000359899:p.His49Asn						p.H49N	NM_001526.3	NP_001517.2	O43614	OX2R_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.23)		1	481	+	Lung NSC(77;0.107)|Renal(3;0.122)		49					Q5VTM0	Missense_Mutation	SNP	ENST00000370862.3	37	c.145C>A	CCDS4956.1	.	.	.	.	.	.	.	.	.	.	C	16.79	3.221600	0.58560	.	.	ENSG00000137252	ENST00000370862	T	0.61510	0.1	5.33	4.47	0.54385	.	0.103785	0.64402	D	0.000004	T	0.36771	0.0979	L	0.50333	1.59	0.80722	D	1	B	0.24823	0.112	B	0.27887	0.084	T	0.26360	-1.0105	10	0.29301	T	0.29	.	14.1985	0.65686	0.0:0.9276:0.0:0.0724	.	49	O43614	OX2R_HUMAN	N	49	ENSP00000359899:H49N	ENSP00000359899:H49N	H	+	1	0	HCRTR2	55147489	1.000000	0.71417	0.940000	0.37924	0.984000	0.73092	4.608000	0.61141	1.255000	0.44051	-0.244000	0.11960	CAC		0.552	HCRTR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043392.1			6	207	1	0	0.00198382	0.248553	0.00216185	6	207					A	55039530	C	A	55039530	3	1	25	1	0	0	0	0	1	0	0	0	7002	710	25	5	147	5	HCRTR2	6	55039530	Missense_Mutation	SNP	C	TCGA-CH-5753-01A-11D-1576-08		55039530	116075537	23	1089											
FAM135A	57579	broad.mit.edu	37	chr6	71232237	71232237	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tacgcagattttctgaggcaTtcttttgttttgagcatcca	8	17	8	8	1	2	3	0	2	2	1	3	3	3	3	1	1	2	4	1	1	1	8			TCGA-CH-5753-01A-11D-1576-08	TCGA-CH-5753-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05a8fbba-61ac-42a4-b375-87f3a671446b	c1987c4d-84f8-4464-93ad-7e53fd4a6a11	g.chr6:71232237T>G	ENST00000418814.2	+	13	1665	c.1051T>G	c.(1051-1053)Ttc>Gtc	p.F351V	FAM135A_ENST00000505868.1_Missense_Mutation_p.F351V|FAM135A_ENST00000505769.1_Missense_Mutation_p.F351V|FAM135A_ENST00000370479.3_Missense_Mutation_p.F334V|FAM135A_ENST00000361499.3_Missense_Mutation_p.F351V|FAM135A_ENST00000457062.2_Missense_Mutation_p.F334V	NM_001105531.2|NM_001162529.1	NP_001099001.1|NP_001156001.1	Q9P2D6	F135A_HUMAN	family with sequence similarity 135, member A	351								p.F351V(1)|p.F334V(1)		breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	38						TTCTGAGGCATTCTTTTGTTT	0.333																																						ENST00000418814.2																			2	Substitution - Missense(2)	p.F351V(1)|p.F334V(1)	prostate(2)	breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	38						c.(1051-1053)Ttc>Gtc		family with sequence similarity 135, member A							143	154	150					6																	71232237		2203	4300	6503	SO:0001583	missense	57579							g.chr6:71232237T>G	AK000183	CCDS34481.1, CCDS47448.1, CCDS55028.1	6q13	2008-10-30	2007-05-11	2007-05-11	ENSG00000082269	ENSG00000082269			21084	protein-coding gene	gene with protein product			"KIAA1411"	KIAA1411		10718198	Standard	NM_001105531		Approved	FLJ20176	uc003pfj.3	Q9P2D6	OTTHUMG00000014991	ENST00000418814.2:c.1051T>G	6.37:g.71232237T>G	ENSP00000410768:p.Phe351Val					FAM135A_ENST00000505769.1_Missense_Mutation_p.F351V|FAM135A_ENST00000457062.2_Missense_Mutation_p.F334V|FAM135A_ENST00000361499.3_Missense_Mutation_p.F351V|FAM135A_ENST00000370479.3_Missense_Mutation_p.F334V|FAM135A_ENST00000505868.1_Missense_Mutation_p.F351V	p.F351V	NM_001105531.2|NM_001162529.1	NP_001099001.1|NP_001156001.1	Q9P2D6	F135A_HUMAN			13	1665	+			351					A2RRQ5|Q3C0H3|Q5JXK0|Q5JXK1|Q68DW0|Q6P081|Q9H0F2|Q9NU48|Q9NUQ5|Q9NXL5	Missense_Mutation	SNP	ENST00000418814.2	37	c.1051T>G	CCDS55028.1	.	.	.	.	.	.	.	.	.	.	T	26.3	4.726257	0.89298	.	.	ENSG00000082269	ENST00000418814;ENST00000370479;ENST00000505769;ENST00000515323;ENST00000457062;ENST00000361499;ENST00000505868	T;T;T;T;T;T;T	0.21734	1.99;1.99;1.99;1.99;1.99;1.99;1.99	5.48	5.48	0.80851	.	0.000000	0.85682	D	0.000000	T	0.37019	0.0988	M	0.72353	2.195	0.43714	D	0.996185	D;D;D;D;D	0.89917	1.0;1.0;0.997;1.0;1.0	D;D;D;D;D	0.97110	0.998;1.0;0.995;0.997;0.997	T	0.16897	-1.0387	10	0.49607	T	0.09	.	15.5533	0.76170	0.0:0.0:0.0:1.0	.	351;351;351;351;334	Q9P2D6-4;D6RC17;Q9P2D6;Q9P2D6-2;Q9P2D6-3	.;.;F135A_HUMAN;.;.	V	351;334;351;351;334;351;351	ENSP00000410768:F351V;ENSP00000359510:F334V;ENSP00000423785:F351V;ENSP00000422406:F351V;ENSP00000409201:F334V;ENSP00000354913:F351V;ENSP00000423307:F351V	ENSP00000354913:F351V	F	+	1	0	FAM135A	71288958	1.000000	0.71417	0.988000	0.46212	0.980000	0.70556	7.036000	0.76524	2.078000	0.62432	0.402000	0.26972	TTC		0.333	FAM135A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000041137.2	NM_020819		72	192	0	0	0	0.870114	0	72	192					G	71232237	T	G	71232237	3	3	25	1	0	0	0	0	1	0	0	0	5448	1493	52	5	1171	5	FAM135A	6	71232237	Missense_Mutation	SNP	T	TCGA-CH-5753-01A-11D-1576-08	16192707	71232237	99882830	24	1090											
TECPR1	25851	broad.mit.edu	37	chr7	97851719	97851719	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctggctgcgaggggtacaCggatccccggtagaaggcgg	7	5	19	10	4	0	1	0	0	0	1	1	3	1	2	2	8	2	4	2	8	3	2			TCGA-CH-5753-01A-11D-1576-08	TCGA-CH-5753-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05a8fbba-61ac-42a4-b375-87f3a671446b	c1987c4d-84f8-4464-93ad-7e53fd4a6a11	g.chr7:97851719C>T	ENST00000447648.2	-	22	3342	c.3043G>A	c.(3043-3045)Gtg>Atg	p.V1015M	TECPR1_ENST00000479975.1_5'UTR|TECPR1_ENST00000379795.3_Missense_Mutation_p.V1017M			Q7Z6L1	TCPR1_HUMAN	tectonin beta-propeller repeat containing 1	1015					autophagic vacuole fusion (GO:0000046)|autophagy (GO:0006914)	autophagic vacuole membrane (GO:0000421)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	phosphatidylinositol-3-phosphate binding (GO:0032266)	p.V1016M(1)|p.V1015M(1)		central_nervous_system(2)|endometrium(8)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						GAGGGGTACACGGATCCCCGG	0.672																																						ENST00000447648.2																			2	Substitution - Missense(2)	p.V1016M(1)|p.V1015M(1)	prostate(2)	central_nervous_system(2)|endometrium(8)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						c.(3043-3045)Gtg>Atg		tectonin beta-propeller repeat containing 1							16	22	20					7																	97851719		2064	4188	6252	SO:0001583	missense	25851					integral to membrane	protein binding	g.chr7:97851719C>T		CCDS47648.1	7q21.3	2009-01-30			ENSG00000205356	ENSG00000205356			22214	protein-coding gene	gene with protein product		614781					Standard	NM_015395		Approved	DKFZP434B0335, FLJ23419, FLJ90593, KIAA1358	uc003upg.4	Q7Z6L1	OTTHUMG00000154273	ENST00000447648.2:c.3043G>A	7.37:g.97851719C>T	ENSP00000404923:p.Val1015Met					TECPR1_ENST00000379795.3_Missense_Mutation_p.V1017M|TECPR1_ENST00000479975.1_5'UTR	p.V1015M			Q7Z6L1	TCPR1_HUMAN			22	3342	-			1015					A8KAD1|B3KPZ1|C9J024|F5GX57|Q96EB0|Q9P2I9|Q9UFR6	Missense_Mutation	SNP	ENST00000447648.2	37	c.3043G>A	CCDS47648.1	.	.	.	.	.	.	.	.	.	.	C	24.6	4.544565	0.86022	.	.	ENSG00000205356	ENST00000447648;ENST00000379795	T;T	0.80214	-1.35;-1.35	4.7	4.7	0.59300	.	0.063706	0.64402	D	0.000008	D	0.87981	0.6315	M	0.63428	1.95	0.80722	D	1	D	0.76494	0.999	D	0.73380	0.98	D	0.89196	0.3554	10	0.72032	D	0.01	-24.3322	16.8055	0.85626	0.0:1.0:0.0:0.0	.	1015	Q7Z6L1	TCPR1_HUMAN	M	1015;1017	ENSP00000404923:V1015M;ENSP00000369121:V1017M	ENSP00000369121:V1017M	V	-	1	0	TECPR1	97689655	1.000000	0.71417	0.959000	0.39883	0.578000	0.36192	7.624000	0.83124	2.443000	0.82685	0.655000	0.94253	GTG		0.672	TECPR1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000334661.1	NM_015395		6	10	0	0	0	0.217242	0	6	10					T	97851719	C	T	97851719	3	4	25	1	0	0	0	0	1	0	0	0	15740	536	19	1	474	1	TECPR1	7	97851719	Missense_Mutation	SNP	C	TCGA-CH-5753-01A-11D-1576-08		97851719	61286944	25	1091											
TMEM130	222865	broad.mit.edu	37	chr7	98460809	98460809	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acagagaccgggaattccccGggcacgtggccgaccacacg	10	3	13	15	5	0	1	0	0	0	1	1	4	1	2	5	3	0	1	5	3	1	1			TCGA-CH-5753-01A-11D-1576-08	TCGA-CH-5753-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05a8fbba-61ac-42a4-b375-87f3a671446b	c1987c4d-84f8-4464-93ad-7e53fd4a6a11	g.chr7:98460809G>A	ENST00000416379.2	-	2	304	c.300C>T	c.(298-300)ccC>ccT	p.P100P	TMEM130_ENST00000345589.4_Intron|TMEM130_ENST00000339375.4_Silent_p.P100P|TMEM130_ENST00000546258.1_Silent_p.P81P|TMEM130_ENST00000450876.1_Silent_p.P16P			Q8N3G9	TM130_HUMAN	transmembrane protein 130	100						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)		p.P100P(1)		breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	25	all_cancers(62;4.05e-09)|all_epithelial(64;2.62e-09)|Lung NSC(181;0.01)|all_lung(186;0.0115)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			GGAATTCCCCGGGCACGTGGC	0.637																																						ENST00000450876.1																			1	Substitution - coding silent(1)	p.P100P(1)	prostate(1)	breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	25						c.(46-48)ccC>ccT		transmembrane protein 130							60	60	60					7																	98460809		2203	4300	6503	SO:0001819	synonymous_variant	222865					Golgi membrane|integral to membrane		g.chr7:98460809G>A		CCDS5658.1, CCDS47649.1, CCDS47650.1	7q22.1	2006-03-09			ENSG00000166448	ENSG00000166448			25429	protein-coding gene	gene with protein product						12975309	Standard	NM_152913		Approved	DKFZp761L1417, FLJ42643	uc003upo.3	Q8N3G9	OTTHUMG00000154419	ENST00000416379.2:c.300C>T	7.37:g.98460809G>A						TMEM130_ENST00000416379.2_Silent_p.P100P|TMEM130_ENST00000339375.4_Silent_p.P100P|TMEM130_ENST00000546258.1_Silent_p.P81P|TMEM130_ENST00000345589.4_Intron	p.P16P			Q8N3G9	TM130_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)		2	1363	-	all_cancers(62;4.05e-09)|all_epithelial(64;2.62e-09)|Lung NSC(181;0.01)|all_lung(186;0.0115)|Esophageal squamous(72;0.0274)		100					A4D266|B7Z364|Q8IY46|Q8N0W9|Q8N3R2	Silent	SNP	ENST00000416379.2	37	c.48C>T	CCDS47650.1																																																																																				0.637	TMEM130-008	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000380713.1	NM_152913		11	117	0	0	0	0.361761	0	11	117					A	98460809	G	A	98460809	2	1	25	1	0	0	0	0	0	0	0	1	16040	1103	39	2		2	TMEM130	7	98460809	Silent	SNP	G	TCGA-CH-5753-01A-11D-1576-08	609090	98460809	60677854	26	1092											
ZNF800	168850	broad.mit.edu	37	chr7	127013912	127013912	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgtttggaagtaaactgaCgtttacaaagtttacagtaa	14	14	8	5	1	1	1	0	1	1	0	1	2	1	2	0	1	3	5	0	1	7	7			TCGA-CH-5753-01A-11D-1576-08	TCGA-CH-5753-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05a8fbba-61ac-42a4-b375-87f3a671446b	c1987c4d-84f8-4464-93ad-7e53fd4a6a11	g.chr7:127013912C>T	ENST00000393313.1	-	5	2069	c.1478G>A	c.(1477-1479)cGt>cAt	p.R493H	ZNF800_ENST00000485577.1_5'Flank|ZNF800_ENST00000393312.1_Missense_Mutation_p.R493H|ZNF800_ENST00000265827.3_Missense_Mutation_p.R493H			Q2TB10	ZN800_HUMAN	zinc finger protein 800	493					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R493H(2)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(8)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	32						AGTAAACTGACGTTTACAAAG	0.383																																						ENST00000393313.1																			2	Substitution - Missense(2)	p.R493H(2)	prostate(2)	breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(8)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	32						c.(1477-1479)cGt>cAt		zinc finger protein 800							61	58	59					7																	127013912		2203	4300	6503	SO:0001583	missense	168850				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:127013912C>T	AF218032	CCDS5795.1	7q31.33	2008-05-02			ENSG00000048405	ENSG00000048405		"Zinc fingers, C2H2-type"	27267	protein-coding gene	gene with protein product						12477932	Standard	NM_176814		Approved		uc003vly.1	Q2TB10	OTTHUMG00000023456	ENST00000393313.1:c.1478G>A	7.37:g.127013912C>T	ENSP00000376989:p.Arg493His					ZNF800_ENST00000265827.3_Missense_Mutation_p.R493H|ZNF800_ENST00000393312.1_Missense_Mutation_p.R493H	p.R493H			Q2TB10	ZN800_HUMAN			5	2069	-			493					Q9HBN0	Missense_Mutation	SNP	ENST00000393313.1	37	c.1478G>A	CCDS5795.1	.	.	.	.	.	.	.	.	.	.	C	18.30	3.594397	0.66219	.	.	ENSG00000048405	ENST00000393313;ENST00000265827;ENST00000393312	T;T;T	0.23950	1.88;1.88;1.88	5.98	5.98	0.97165	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.45796	0.1360	L	0.52266	1.64	0.35354	D	0.787655	D;D	0.76494	0.999;0.999	D;D	0.64595	0.927;0.927	T	0.05209	-1.0899	8	.	.	.	-25.9808	19.4402	0.94817	0.0:1.0:0.0:0.0	.	396;493	B7Z4V7;Q2TB10	.;ZN800_HUMAN	H	493	ENSP00000376989:R493H;ENSP00000265827:R493H;ENSP00000376988:R493H	.	R	-	2	0	ZNF800	126801148	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.487000	0.81328	2.838000	0.97847	0.591000	0.81541	CGT		0.383	ZNF800-002	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000141823.1	NM_176814		34	189	0	0	0	0.769981	0	34	189					T	127013912	C	T	127013912	3	4	25	1	0	0	0	0	1	0	0	0	18166	536	19	1	524	1	ZNF800	7	127013912	Missense_Mutation	SNP	C	TCGA-CH-5753-01A-11D-1576-08	28553103	127013912	32124751	27	1093											
TNKS	8658	broad.mit.edu	37	chr8	9413594	9413594	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaccaccccagcctctcccAcggccagcggcctggccccc	5	3	10	23	2	1	0	0	0	1	0	2	1	1	1	9	4	2	0	9	4	0	0	rs201993870	byFrequency	TCGA-CH-5753-01A-11D-1576-08	TCGA-CH-5753-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05a8fbba-61ac-42a4-b375-87f3a671446b	c1987c4d-84f8-4464-93ad-7e53fd4a6a11	g.chr8:9413594A>G	ENST00000310430.6	+	1	171	c.145A>G	c.(145-147)Acg>Gcg	p.T49A	TNKS_ENST00000520408.1_Missense_Mutation_p.T49A|TNKS_ENST00000522110.1_Missense_Mutation_p.T49A|RP11-375N15.2_ENST00000607598.1_RNA	NM_003747.2	NP_003738.2	O95271	TNKS1_HUMAN	tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase	49					mitotic nuclear division (GO:0007067)|mitotic spindle organization (GO:0007052)|mRNA transport (GO:0051028)|negative regulation of DNA binding (GO:0043392)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of telomere maintenance via telomerase (GO:0032212)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein ADP-ribosylation (GO:0006471)|protein auto-ADP-ribosylation (GO:0070213)|protein localization to chromosome, telomeric region (GO:0070198)|protein poly-ADP-ribosylation (GO:0070212)|protein polyubiquitination (GO:0000209)|protein transport (GO:0015031)|regulation of telomere maintenance via telomerase (GO:0032210)|spindle assembly (GO:0051225)|Wnt signaling pathway (GO:0016055)	chromosome, centromeric region (GO:0000775)|chromosome, telomeric region (GO:0000781)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nuclear chromosome, telomeric region (GO:0000784)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleus (GO:0005634)|pericentriolar material (GO:0000242)	NAD+ ADP-ribosyltransferase activity (GO:0003950)|zinc ion binding (GO:0008270)	p.T49A(3)		NS(1)|endometrium(10)|kidney(6)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	49				COAD - Colon adenocarcinoma(149;0.0467)		AGCCTCTCCCACGGCCAGCGG	0.776													A|||	4	0.000798722	0	0.0014	5008	,	,		11538	0		0.001	False		,,,				2504	0.002					ENST00000310430.6																			3	Substitution - Missense(3)	p.T49A(3)	prostate(3)	NS(1)|endometrium(10)|kidney(6)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	49						c.(145-147)Acg>Gcg		tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase		A	ALA/THR	0,4106		0,0,2053	8	10	10		145	3.7	0.5	8		10	10,8068		0,10,4029	no	missense	TNKS	NM_003747.2	58	0,10,6082	GG,GA,AA		0.1238,0.0,0.0821	benign	49/1328	9413594	10,12174	2053	4039	6092	SO:0001583	missense	8658				mitotic spindle organization|mRNA transport|negative regulation of DNA binding|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of telomere maintenance via telomerase|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein poly-ADP-ribosylation|protein polyubiquitination|protein transport|spindle assembly|transmembrane transport|Wnt receptor signaling pathway	chromosome, centromeric region|Golgi membrane|microsome|nuclear chromosome, telomeric region|nuclear membrane|nuclear pore|pericentriolar material	NAD+ ADP-ribosyltransferase activity|protein binding|zinc ion binding	g.chr8:9413594A>G	AF082556	CCDS5974.1	8p23.1	2013-01-10			ENSG00000173273	ENSG00000173273		"Poly (ADP-ribose) polymerases", "Sterile alpha motif (SAM) domain containing", "Ankyrin repeat domain containing"	11941	protein-coding gene	gene with protein product		603303				9822378, 10198177	Standard	XM_006716263		Approved	TIN1, TINF1, TNKS1, PARP-5a, PARP5A, pART5	uc003wss.3	O95271	OTTHUMG00000090481	ENST00000310430.6:c.145A>G	8.37:g.9413594A>G	ENSP00000311579:p.Thr49Ala					TNKS_ENST00000520408.1_Missense_Mutation_p.T49A|RP11-375N15.2_ENST00000607598.1_RNA|TNKS_ENST00000522110.1_Missense_Mutation_p.T49A	p.T49A	NM_003747.2	NP_003738.2	O95271	TNKS1_HUMAN		COAD - Colon adenocarcinoma(149;0.0467)	1	171	+			49					O95272|Q4G0F2	Missense_Mutation	SNP	ENST00000310430.6	37	c.145A>G	CCDS5974.1	.	.	.	.	.	.	.	.	.	.	A	9.922	1.212413	0.22289	0.0	0.001238	ENSG00000173273	ENST00000520408;ENST00000310430;ENST00000522110	T;T	0.61040	0.14;0.17	4.84	3.71	0.42584	.	0.081042	0.46145	D	0.000312	T	0.29684	0.0741	N	0.14661	0.345	0.21627	N	0.999618	B;B	0.18461	0.028;0.001	B;B	0.16722	0.016;0.001	T	0.05818	-1.0862	10	0.15066	T	0.55	.	0.7901	0.01056	0.4897:0.1864:0.1459:0.1779	.	49;49	E7EWY6;O95271	.;TNKS1_HUMAN	A	49	ENSP00000428299:T49A;ENSP00000311579:T49A	ENSP00000311579:T49A	T	+	1	0	TNKS	9451004	0.193000	0.23313	0.491000	0.27477	0.803000	0.45373	0.909000	0.28558	2.154000	0.67381	0.533000	0.62120	ACG		0.776	TNKS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206935.1	NM_003747		4	5	0	0	0	0.335167	0	4	5					G	9413594	A	G	9413594	3	3	25	1	0	0	0	0	1	0	0	0	16316	159	6	4	147	4	TNKS	8	9413594	Missense_Mutation	SNP	A	TCGA-CH-5753-01A-11D-1576-08		9413594	136950428	28	1094											
FDFT1	2222	broad.mit.edu	37	chr8	11667248	11667248	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gatgacatgaccatcagtgtGgaaaagaaggtcccgctgtt	12	9	12	8	1	1	3	1	2	0	1	2	5	2	4	2	2	0	2	2	2	3	1			TCGA-CH-5753-01A-11D-1576-08	TCGA-CH-5753-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05a8fbba-61ac-42a4-b375-87f3a671446b	c1987c4d-84f8-4464-93ad-7e53fd4a6a11	g.chr8:11667248G>A	ENST00000220584.4	+	3	492	c.270G>A	c.(268-270)gtG>gtA	p.V90V	FDFT1_ENST00000525900.1_Silent_p.V83V|FDFT1_ENST00000446331.2_Intron|FDFT1_ENST00000443614.2_Silent_p.V90V|FDFT1_ENST00000538689.1_5'UTR|FDFT1_ENST00000525777.1_Silent_p.V5V|FDFT1_ENST00000528812.1_Silent_p.V26V|FDFT1_ENST00000528643.1_Silent_p.V5V|FDFT1_ENST00000530664.1_Silent_p.V26V	NM_004462.3	NP_004453.3	P37268	FDFT_HUMAN	farnesyl-diphosphate farnesyltransferase 1	90					cellular lipid metabolic process (GO:0044255)|cholesterol biosynthetic process (GO:0006695)|isoprenoid biosynthetic process (GO:0008299)|small molecule metabolic process (GO:0044281)|steroid biosynthetic process (GO:0006694)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	farnesyl-diphosphate farnesyltransferase activity (GO:0004310)|oxidoreductase activity (GO:0016491)|squalene synthase activity (GO:0051996)	p.V90V(1)		breast(1)|endometrium(1)|large_intestine(3)|lung(2)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)	12	all_epithelial(15;0.234)		STAD - Stomach adenocarcinoma(15;0.00225)	COAD - Colon adenocarcinoma(149;0.18)		CCATCAGTGTGGAAAAGAAGG	0.463																																						ENST00000220584.4																			1	Substitution - coding silent(1)	p.V90V(1)	prostate(1)	breast(1)|endometrium(1)|large_intestine(3)|lung(2)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)	12						c.(268-270)gtG>gtA		farnesyl-diphosphate farnesyltransferase 1							139	116	124					8																	11667248		2203	4300	6503	SO:0001819	synonymous_variant	2222				cholesterol biosynthetic process|isoprenoid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	farnesyl-diphosphate farnesyltransferase activity|oxidoreductase activity|protein binding|squalene synthase activity	g.chr8:11667248G>A	X69141	CCDS5985.1, CCDS75696.1, CCDS75697.1	8p23.1-p22	2005-03-07			ENSG00000079459	ENSG00000079459	2.5.1.21		3629	protein-coding gene	gene with protein product	"squalene synthase"	184420					Standard	NM_001287742		Approved		uc003wui.3	P37268	OTTHUMG00000090801	ENST00000220584.4:c.270G>A	8.37:g.11667248G>A						FDFT1_ENST00000530664.1_Silent_p.V26V|FDFT1_ENST00000525777.1_Silent_p.V5V|FDFT1_ENST00000528643.1_Silent_p.V5V|FDFT1_ENST00000538689.1_5'UTR|FDFT1_ENST00000528812.1_Silent_p.V26V|FDFT1_ENST00000443614.2_Silent_p.V90V|FDFT1_ENST00000525900.1_Silent_p.V83V|FDFT1_ENST00000446331.2_Intron	p.V90V	NM_004462.3	NP_004453.3	P37268	FDFT_HUMAN	STAD - Stomach adenocarcinoma(15;0.00225)	COAD - Colon adenocarcinoma(149;0.18)	3	492	+	all_epithelial(15;0.234)		90					B3KQ95|B4DJE5|B4DT56|B7Z1J3|Q96GT0	Silent	SNP	ENST00000220584.4	37	c.270G>A	CCDS5985.1																																																																																				0.463	FDFT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207588.2			6	95	0	0	0	0.217242	0	6	95					A	11667248	G	A	11667248	2	1	25	1	0	0	0	0	0	0	0	1	5802	1335	47	3		3	FDFT1	8	11667248	Silent	SNP	G	TCGA-CH-5753-01A-11D-1576-08	2253654	11667248	134696774	29	1095											
PIWIL2	55124	broad.mit.edu	37	chr8	22163488	22163488	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgagctttcttttatgaccGgaatcccagagaagatgaag	12	11	10	8	1	1	5	0	3	1	2	2	7	2	6	2	1	1	1	2	1	4	3	rs138817329	byFrequency	TCGA-CH-5753-01A-11D-1576-08	TCGA-CH-5753-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05a8fbba-61ac-42a4-b375-87f3a671446b	c1987c4d-84f8-4464-93ad-7e53fd4a6a11	g.chr8:22163488G>A	ENST00000454009.2	+	13	2013	c.1504G>A	c.(1504-1506)Gga>Aga	p.G502R	PIWIL2_ENST00000521356.1_Missense_Mutation_p.G502R|PIWIL2_ENST00000356766.6_Missense_Mutation_p.G502R	NM_001135721.1	NP_001129193.1	Q8TC59	PIWL2_HUMAN	piwi-like RNA-mediated gene silencing 2	502					DNA methylation involved in gamete generation (GO:0043046)|gene silencing by RNA (GO:0031047)|germ-line stem cell maintenance (GO:0030718)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|oogenesis (GO:0048477)|piRNA metabolic process (GO:0034587)|positive regulation of meiosis I (GO:0060903)|positive regulation of translation (GO:0045727)|RNA 5'-end processing (GO:0000966)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|P granule (GO:0043186)|pi-body (GO:0071546)|polysome (GO:0005844)	mRNA binding (GO:0003729)|piRNA binding (GO:0034584)	p.G502R(1)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(14)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	46				Colorectal(74;0.018)|COAD - Colon adenocarcinoma(73;0.0707)		TTTTATGACCGGAATCCCAGA	0.468																																						ENST00000356766.6																			1	Substitution - Missense(1)	p.G502R(1)	prostate(1)	NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(14)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	46						c.(1504-1506)Gga>Aga		piwi-like RNA-mediated gene silencing 2		G	ARG/GLY,ARG/GLY	0,4406		0,0,2203	133	128	130		1504,1504	5.6	1	8	dbSNP_134	130	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	PIWIL2	NM_001135721.1,NM_018068.3	125,125	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging	502/974,502/974	22163488	1,13005	2203	4300	6503	SO:0001583	missense	55124				DNA methylation involved in gamete generation|gene silencing by RNA|germ-line stem cell maintenance|multicellular organismal development|oogenesis|piRNA metabolic process|positive regulation of translation|RNA 5'-end processing|spermatogenesis	chromatoid body|pi-body	piRNA binding	g.chr8:22163488G>A	AK001213	CCDS6029.1	8p24	2013-02-15	2013-02-15		ENSG00000197181	ENSG00000197181		"Argonaute/PIWI family"	17644	protein-coding gene	gene with protein product	"Hiwi-like", "cancer/testis antigen 80"	610312	"piwi-like 2 (Drosophila)"			11279525, 12906857	Standard	NM_018068		Approved	HILI, FLJ10351, Mili, CT80	uc003xbn.2	Q8TC59	OTTHUMG00000097767	ENST00000454009.2:c.1504G>A	8.37:g.22163488G>A	ENSP00000406956:p.Gly502Arg					PIWIL2_ENST00000454009.2_Missense_Mutation_p.G502R|PIWIL2_ENST00000521356.1_Missense_Mutation_p.G502R	p.G502R	NM_018068.3	NP_060538.2	Q8TC59	PIWL2_HUMAN		Colorectal(74;0.018)|COAD - Colon adenocarcinoma(73;0.0707)	13	1652	+			502					A8K4S3|A8K8S5|B0AZN9|B0AZP2|B4DR22|E7ECA4|Q96SW6|Q9NW28	Missense_Mutation	SNP	ENST00000454009.2	37	c.1504G>A	CCDS6029.1	.	.	.	.	.	.	.	.	.	.	G	27.1	4.802308	0.90538	0.0	1.16E-4	ENSG00000197181	ENST00000356766;ENST00000521356;ENST00000454009	T;T;T	0.15017	2.46;2.46;2.46	5.64	5.64	0.86602	Argonaute/Dicer protein, PAZ (3);	0.000000	0.85682	D	0.000000	T	0.57169	0.2035	H	0.95365	3.66	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.70554	-0.4840	10	0.87932	D	0	-2.5633	18.4726	0.90779	0.0:0.0:1.0:0.0	.	502;502	E7ECA4;Q8TC59	.;PIWL2_HUMAN	R	502	ENSP00000349208:G502R;ENSP00000428267:G502R;ENSP00000406956:G502R	ENSP00000349208:G502R	G	+	1	0	PIWIL2	22219433	1.000000	0.71417	1.000000	0.80357	0.769000	0.43574	9.041000	0.93788	2.637000	0.89404	0.563000	0.77884	GGA		0.468	PIWIL2-003	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000375438.1			33	93	0	0	0	0.779181	0	33	93					A	22163488	G	A	22163488	3	1	25	1	0	0	0	0	1	0	0	0	11958	1117	39	2	1550	2	PIWIL2	8	22163488	Missense_Mutation	SNP	G	TCGA-CH-5753-01A-11D-1576-08	10496240	22163488	124200534	30	1096											
MCM4	4173	broad.mit.edu	37	chr8	48878815	48878815	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	agctgattcccgagatgcagGaggccttcttccagtgccaa	9	9	11	12	1	1	2	0	1	1	1	3	4	3	3	4	2	3	2	4	2	1	3			TCGA-CH-5753-01A-11D-1576-08	TCGA-CH-5753-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05a8fbba-61ac-42a4-b375-87f3a671446b	c1987c4d-84f8-4464-93ad-7e53fd4a6a11	g.chr8:48878815G>A	ENST00000262105.2	+	8	1110	c.901G>A	c.(901-903)Gag>Aag	p.E301K	MCM4_ENST00000523944.1_Missense_Mutation_p.E301K	NM_005914.3	NP_005905.2	P33991	MCM4_HUMAN	minichromosome maintenance complex component 4	301					DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA unwinding involved in DNA replication (GO:0006268)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)	MCM complex (GO:0042555)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA helicase activity (GO:0003678)|single-stranded DNA binding (GO:0003697)	p.E301K(1)		biliary_tract(1)|breast(1)|endometrium(7)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	44		all_cancers(86;0.026)|all_epithelial(80;0.000748)|Lung NSC(129;0.00327)|all_lung(136;0.00354)				CGAGATGCAGGAGGCCTTCTT	0.617																																						ENST00000262105.2																			1	Substitution - Missense(1)	p.E301K(1)	prostate(1)	biliary_tract(1)|breast(1)|endometrium(7)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	44						c.(901-903)Gag>Aag		minichromosome maintenance complex component 4							111	93	99					8																	48878815		2203	4300	6503	SO:0001583	missense	4173				cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	MCM complex	ATP binding|DNA binding|helicase activity|protein binding	g.chr8:48878815G>A		CCDS6143.1	8q12-q13	2008-02-05	2007-04-04		ENSG00000104738	ENSG00000104738			6947	protein-coding gene	gene with protein product		602638	"MCM4 minichromosome maintenance deficient 4 (S. cerevisiae)"	CDC21		7601140	Standard	NM_005914		Approved	CDC54, hCdc21, P1-Cdc21, MGC33310	uc003xql.2	P33991	OTTHUMG00000164205	ENST00000262105.2:c.901G>A	8.37:g.48878815G>A	ENSP00000262105:p.Glu301Lys					MCM4_ENST00000523944.1_Missense_Mutation_p.E301K	p.E301K	NM_005914.3	NP_005905.2	P33991	MCM4_HUMAN			8	1110	+		all_cancers(86;0.026)|all_epithelial(80;0.000748)|Lung NSC(129;0.00327)|all_lung(136;0.00354)	301					Q8NEH1|Q99658	Missense_Mutation	SNP	ENST00000262105.2	37	c.901G>A	CCDS6143.1	.	.	.	.	.	.	.	.	.	.	G	16.10	3.028480	0.54790	.	.	ENSG00000104738	ENST00000523944;ENST00000262105;ENST00000396826;ENST00000429229;ENST00000520637	T;T;T	0.03982	3.74;3.74;3.74	5.63	5.63	0.86233	Nucleic acid-binding, OB-fold-like (1);	0.000000	0.85682	D	0.000000	T	0.10637	0.0260	L	0.42581	1.335	0.80722	D	1	P;P	0.39920	0.695;0.695	P;B	0.45753	0.492;0.313	T	0.01393	-1.1366	10	0.59425	D	0.04	-35.9724	20.0314	0.97540	0.0:0.0:1.0:0.0	.	301;301	B3KMX0;P33991	.;MCM4_HUMAN	K	301;301;288;261;63	ENSP00000430194:E301K;ENSP00000262105:E301K;ENSP00000427875:E63K	ENSP00000262105:E301K	E	+	1	0	MCM4	49041368	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.303000	0.96183	2.802000	0.96397	0.561000	0.74099	GAG		0.617	MCM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377791.1	NM_005914		93	76	0	0	0	0.870114	0	93	76					A	48878815	G	A	48878815	3	1	25	1	0	0	0	0	1	0	0	0	9389	1175	41	3	931	3	MCM4	8	48878815	Missense_Mutation	SNP	G	TCGA-CH-5753-01A-11D-1576-08	26715327	48878815	97485207	31	1097											
CSMD3	114788	broad.mit.edu	37	chr8	113277665	113277665	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	caagttggcattactccactCcatgtgccattaattgtaca	11	13	6	11	0	0	0	0	0	0	0	2	0	2	0	3	1	3	3	3	1	4	5			TCGA-CH-5753-01A-11D-1576-08	TCGA-CH-5753-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05a8fbba-61ac-42a4-b375-87f3a671446b	c1987c4d-84f8-4464-93ad-7e53fd4a6a11	g.chr8:113277665C>T	ENST00000297405.5	-	60	9907	c.9663G>A	c.(9661-9663)tgG>tgA	p.W3221*	CSMD3_ENST00000343508.3_Nonsense_Mutation_p.W3181*|CSMD3_ENST00000455883.2_Nonsense_Mutation_p.W3052*|CSMD3_ENST00000352409.3_Nonsense_Mutation_p.W3151*	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3221	Sushi 24. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.W3221*(1)|p.T3214_W3221del(1)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TTACTCCACTCCATGTGCCAT	0.338										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												ENST00000297405.5																			2	Substitution - Nonsense(1)|Deletion - In frame(1)	p.W3221*(1)|p.T3214_W3221del(1)	prostate(1)|breast(1)	breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						c.(9661-9663)tgG>tgA		CUB and Sushi multiple domains 3							162	144	150					8																	113277665		2203	4300	6503	SO:0001587	stop_gained	114788					integral to membrane|plasma membrane		g.chr8:113277665C>T	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.9663G>A	8.37:g.113277665C>T	ENSP00000297405:p.Trp3221*	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_ENST00000343508.3_Nonsense_Mutation_p.W3181*|CSMD3_ENST00000352409.3_Nonsense_Mutation_p.W3151*|CSMD3_ENST00000455883.2_Nonsense_Mutation_p.W3052*	p.W3221*	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN			60	9907	-			3221			Sushi 24.		Q96PZ3	Nonsense_Mutation	SNP	ENST00000297405.5	37	c.9663G>A	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	C	51	18.348672	0.99903	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	.	.	.	5.44	5.44	0.79542	.	0.000000	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.6111	0.95607	0.0:1.0:0.0:0.0	.	.	.	.	X	3181;3221;2491;3052;3151	.	ENSP00000297405:W3221X	W	-	3	0	CSMD3	113346841	1.000000	0.71417	1.000000	0.80357	0.876000	0.50452	7.776000	0.85560	2.714000	0.92807	0.585000	0.79938	TGG		0.338	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		104	288	0	0	0	0.870114	0	104	288					T	113277665	C	T	113277665	4	4	25	1	0	0	0	0	0	1	0	0	3946	856	30	3	1508	3	CSMD3	8	113277665	Nonsense_Mutation	SNP	C	TCGA-CH-5753-01A-11D-1576-08	64398850	113277665	33086357	32	1098											
TTLL11	158135	broad.mit.edu	37	chr9	124751554	124751554	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctctggagtcagcgcgatgaCcgtcttaatcaccacggaga	10	8	11	12	4	4	2	2	1	2	1	4	5	4	3	2	2	1	0	2	2	1	1			TCGA-CH-5753-01A-11D-1576-08	TCGA-CH-5753-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05a8fbba-61ac-42a4-b375-87f3a671446b	c1987c4d-84f8-4464-93ad-7e53fd4a6a11	g.chr9:124751554C>A	ENST00000373776.3	-	4	1646	c.1459G>T	c.(1459-1461)Gtc>Ttc	p.V487F	TTLL11_ENST00000474723.1_5'UTR|TTLL11_ENST00000321582.5_Missense_Mutation_p.V487F	NM_194252.2	NP_919228.2	Q8NHH1	TTL11_HUMAN	tubulin tyrosine ligase-like family, member 11	487	TTL. {ECO:0000255|PROSITE- ProRule:PRU00568}.				cellular protein modification process (GO:0006464)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	ligase activity (GO:0016874)	p.V487F(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(3)|skin(1)	18						AGCGCGATGACCGTCTTAATC	0.532																																						ENST00000321582.5																			1	Substitution - Missense(1)	p.V487F(1)	prostate(1)	breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(3)|skin(1)	18						c.(1459-1461)Gtc>Ttc		tubulin tyrosine ligase-like family, member 11							142	134	137					9																	124751554		2203	4300	6503	SO:0001583	missense	158135				protein modification process	cilium|microtubule basal body	tubulin-tyrosine ligase activity	g.chr9:124751554C>A	AF521886	CCDS6834.2, CCDS48012.1	9q34.11	2013-02-14	2005-07-28	2005-07-28	ENSG00000175764	ENSG00000175764		"Tubulin tyrosine ligase-like family"	18113	protein-coding gene	gene with protein product			"chromosome 9 open reading frame 20"	C9orf20		15890843	Standard	NM_001139442		Approved	bA244O19.1	uc011lyl.2	Q8NHH1	OTTHUMG00000020597	ENST00000373776.3:c.1459G>T	9.37:g.124751554C>A	ENSP00000362881:p.Val487Phe					TTLL11_ENST00000474723.1_5'UTR|TTLL11_ENST00000373776.3_Missense_Mutation_p.V487F	p.V487F	NM_001139442.1	NP_001132914.1	Q8NHH1	TTL11_HUMAN			4	1646	-			487			TTL.			Missense_Mutation	SNP	ENST00000373776.3	37	c.1459G>T	CCDS6834.2	.	.	.	.	.	.	.	.	.	.	C	17.14	3.312773	0.60414	.	.	ENSG00000175764	ENST00000321582;ENST00000373778;ENST00000373776	T;T	0.05081	3.5;3.5	5.74	4.84	0.62591	.	0.352172	0.30134	N	0.010340	T	0.10508	0.0257	N	0.21240	0.645	0.41768	D	0.98975	D;D	0.58620	0.963;0.983	P;D	0.65684	0.725;0.937	T	0.03112	-1.1071	10	0.59425	D	0.04	.	6.2258	0.20708	0.0:0.7681:0.0:0.2319	.	487;487	F8W6M1;Q8NHH1	.;TTL11_HUMAN	F	487;138;487	ENSP00000321346:V487F;ENSP00000362881:V487F	ENSP00000321346:V487F	V	-	1	0	TTLL11	123791375	0.928000	0.31464	0.996000	0.52242	0.747000	0.42532	1.860000	0.39428	2.716000	0.92895	0.650000	0.86243	GTC		0.532	TTLL11-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000053907.1	XM_088486		25	239	1	0	5.61819e-17	0.693898	7.34686e-17	25	239					A	124751554	C	A	124751554	3	1	25	1	0	0	0	0	1	0	0	0	16721	507	18	5	1045	5	TTLL11	9	124751554	Missense_Mutation	SNP	C	TCGA-CH-5753-01A-11D-1576-08		124751554	16461877	33	1099											
LCN8	389812	broad.mit.edu	37	chr9	139651558	139651558	+	IGR	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aacaagccctccacccgcttCggggccgtcagcaccaggct	8	5	10	18	3	1	0	1	0	0	0	3	0	2	0	5	3	3	3	5	3	2	1	rs370405104		TCGA-CH-5753-01A-11D-1576-08	TCGA-CH-5753-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05a8fbba-61ac-42a4-b375-87f3a671446b	c1987c4d-84f8-4464-93ad-7e53fd4a6a11	g.chr9:139651558C>T	ENST00000316144.5	-	0	762				LCN15_ENST00000482511.1_5'Flank|LCN8_ENST00000371688.3_Silent_p.P29P|LCN8_ENST00000482893.1_5'UTR	NM_203347.1	NP_976222.1	Q6UWW0	LCN15_HUMAN	lipocalin 15						lipid metabolic process (GO:0006629)	extracellular region (GO:0005576)	small molecule binding (GO:0036094)|transporter activity (GO:0005215)	p.P29P(1)		endometrium(1)|lung(1)	2						CCACCCGCTTCGGGGCCGTCA	0.587													C|||	1	0.000199681	0	0	5008	,	,		17104	0.001		0	False		,,,				2504	0					ENST00000371688.3																			1	Substitution - coding silent(1)	p.P29P(1)	prostate(1)	endometrium(1)|large_intestine(1)|lung(6)|pancreas(1)|prostate(1)	10						c.(85-87)ccG>ccA		lipocalin 8							55	47	50					9																	139651558		2203	4300	6503	SO:0001628	intergenic_variant	138307				transport	extracellular region	binding	g.chr9:139651558C>T		CCDS7006.1	9q34.3	2011-10-24			ENSG00000177984	ENSG00000177984		"Lipocalins"	33777	protein-coding gene	gene with protein product							Standard	NM_203347		Approved	UNQ2541, PRO6093	uc004cjd.3	Q6UWW0	OTTHUMG00000020943		9.37:g.139651558C>T						LCN8_ENST00000482893.1_5'UTR	p.P29P	NM_178469.3	NP_848564.2	Q6JVE9	LCN8_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.56e-06)|Epithelial(140;8.32e-05)	2	382	-	all_cancers(76;0.0882)|all_epithelial(76;0.228)	Myeloproliferative disorder(178;0.0821)	52						Silent	SNP	ENST00000316144.5	37	c.87G>A	CCDS7006.1																																																																																				0.587	LCN15-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055114.2	NM_203347		4	49	0	0	0	0.150653	0	4	49					T	139651558	C	T	139651558	1	4	25	0	1	0	0	0	0	0	0	0	8686	871	31	2		2	LCN8	9	139651558	IGR	SNP	C	TCGA-CH-5753-01A-11D-1576-08	14900004	139651558	1561873	34	1100											
ANKRD30A	91074	broad.mit.edu	37	chr10	37508619	37508619	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atcagaaattatttcaactaCaaagcaaaaatatgtggctt	18	12	5	6	0	2	1	2	0	0	1	2	1	2	1	0	1	3	2	0	1	8	5			TCGA-CH-5753-01A-11D-1576-08	TCGA-CH-5753-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05a8fbba-61ac-42a4-b375-87f3a671446b	c1987c4d-84f8-4464-93ad-7e53fd4a6a11	g.chr10:37508619C>A	ENST00000602533.1	+	34	3910	c.3811C>A	c.(3811-3813)Caa>Aaa	p.Q1271K	ANKRD30A_ENST00000361713.1_Missense_Mutation_p.Q1271K|ANKRD30A_ENST00000374660.1_Missense_Mutation_p.Q1390K			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	1327					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.Q1271K(1)		NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						ATTTCAACTACAAAGCAAAAA	0.338																																						ENST00000374660.1																			1	Substitution - Missense(1)	p.Q1271K(1)	prostate(1)	NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						c.(4168-4170)Caa>Aaa		ankyrin repeat domain 30A							55	49	51					10																	37508619		1855	4092	5947	SO:0001583	missense	91074					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr10:37508619C>A	AF269087	CCDS7193.1	10p11.21	2013-01-10			ENSG00000148513	ENSG00000148513		"Ankyrin repeat domain containing"	17234	protein-coding gene	gene with protein product	"breast cancer antigen NY-BR-1"	610856				11280766	Standard	NM_052997		Approved	NY-BR-1	uc001iza.1	Q9BXX3	OTTHUMG00000017968	ENST00000602533.1:c.3811C>A	10.37:g.37508619C>A	ENSP00000473551:p.Gln1271Lys					ANKRD30A_ENST00000602533.1_Missense_Mutation_p.Q1271K|ANKRD30A_ENST00000361713.1_Missense_Mutation_p.Q1271K	p.Q1390K			Q9BXX3	AN30A_HUMAN			40	4267	+			1327					Q5W025	Missense_Mutation	SNP	ENST00000602533.1	37	c.4168C>A		.	.	.	.	.	.	.	.	.	.	c	0.014	-1.573107	0.00887	.	.	ENSG00000148513	ENST00000361713;ENST00000374660	T;T	0.19250	2.16;2.16	2.95	2.03	0.26663	.	.	.	.	.	T	0.14013	0.0339	L	0.36672	1.1	0.09310	N	1	P	0.38504	0.634	B	0.35607	0.206	T	0.17048	-1.0382	9	0.11794	T	0.64	.	9.4953	0.38984	0.0:0.7812:0.2188:0.0	.	1327	Q9BXX3	AN30A_HUMAN	K	1271;1390	ENSP00000354432:Q1271K;ENSP00000363792:Q1390K	ENSP00000354432:Q1271K	Q	+	1	0	ANKRD30A	37548625	0.654000	0.27367	0.001000	0.08648	0.001000	0.01503	0.650000	0.24858	0.425000	0.26087	-0.502000	0.04539	CAA		0.338	ANKRD30A-001	KNOWN	NMD_exception|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000047588.2	NM_052997		7	78	1	0	8.12818e-05	0.248553	9.33643e-05	7	78					A	37508619	C	A	37508619	3	1	25	1	0	0	0	0	1	0	0	0	658	479	17	5	3945	5	ANKRD30A	10	37508619	Missense_Mutation	SNP	C	TCGA-CH-5753-01A-11D-1576-08		37508619	98026128	35	1101											
OR52A1	23538	broad.mit.edu	37	chr11	5172693	5172693	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	catttttaccacatgaatgcGaatctgtgtggtctttgcac	9	15	8	9	1	2	1	0	1	2	0	2	2	2	1	1	1	3	1	1	1	3	4	rs199986389		TCGA-CH-5753-01A-11D-1576-08	TCGA-CH-5753-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05a8fbba-61ac-42a4-b375-87f3a671446b	c1987c4d-84f8-4464-93ad-7e53fd4a6a11	g.chr11:5172693G>A	ENST00000380367.1	-	2	1324	c.907C>T	c.(907-909)Cgc>Tgc	p.R303C	OR52A1_ENST00000328942.1_Missense_Mutation_p.R303C			Q9UKL2	O52A1_HUMAN	olfactory receptor, family 52, subfamily A, member 1	303					sensory perception of smell (GO:0007608)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)|transmembrane signaling receptor activity (GO:0004888)	p.R303C(1)		breast(2)|endometrium(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	19		Medulloblastoma(188;0.00106)|Breast(177;0.0155)|all_neural(188;0.0189)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ACATGAATGCGAATCTGTGTG	0.358																																						ENST00000380367.1																			1	Substitution - Missense(1)	p.R303C(1)	prostate(1)	breast(2)|endometrium(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	19						c.(907-909)Cgc>Tgc		olfactory receptor, family 52, subfamily A, member 1		G	CYS/ARG	0,4402		0,0,2201	133	141	138		907	1.3	0	11		138	1,8593		0,1,4296	yes	missense	OR52A1	NM_012375.2	180	0,1,6497	AA,AG,GG		0.0116,0.0,0.0077	benign	303/313	5172693	1,12995	2201	4297	6498	SO:0001583	missense	23538				sensory perception of smell	integral to plasma membrane	olfactory receptor activity	g.chr11:5172693G>A	AF154673	CCDS31374.1	11p15.4	2012-08-09			ENSG00000182070	ENSG00000182070		"GPCR / Class A : Olfactory receptors"	8318	protein-coding gene	gene with protein product						10512676	Standard	NM_012375		Approved	HPFH1OR	uc010qyy.2	Q9UKL2	OTTHUMG00000066603	ENST00000380367.1:c.907C>T	11.37:g.5172693G>A	ENSP00000369725:p.Arg303Cys					OR52A1_ENST00000328942.1_Missense_Mutation_p.R303C	p.R303C			Q9UKL2	O52A1_HUMAN		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	2	1324	-		Medulloblastoma(188;0.00106)|Breast(177;0.0155)|all_neural(188;0.0189)	303					Q6IF31	Missense_Mutation	SNP	ENST00000380367.1	37	c.907C>T	CCDS31374.1	.	.	.	.	.	.	.	.	.	.	G	16.88	3.244477	0.59103	0.0	1.16E-4	ENSG00000182070	ENST00000380367;ENST00000328942	T;T	0.58358	0.34;0.34	5.37	1.29	0.21616	.	0.139286	0.30742	N	0.008969	T	0.53997	0.1831	M	0.90145	3.09	0.18873	N	0.999984	B	0.19331	0.035	B	0.12837	0.008	T	0.56038	-0.8045	10	0.87932	D	0	.	5.937	0.19171	0.2218:0.0:0.6446:0.1336	.	303	Q9UKL2	O52A1_HUMAN	C	303	ENSP00000369725:R303C;ENSP00000333684:R303C	ENSP00000333684:R303C	R	-	1	0	OR52A1	5129269	0.000000	0.05858	0.021000	0.16686	0.744000	0.42396	0.238000	0.18004	0.414000	0.25790	0.655000	0.94253	CGC		0.358	OR52A1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142810.2	NM_012375		32	341	0	0	0	0.760397	0	32	341					A	5172693	G	A	5172693	3	1	25	1	0	0	0	0	1	0	0	0	11108	1058	37	2	33	2	OR52A1	11	5172693	Missense_Mutation	SNP	G	TCGA-CH-5753-01A-11D-1576-08		5172693	129833823	36	1102											
MICAL2	9645	broad.mit.edu	37	chr11	12280080	12280080	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gcaaacaacggaagagacggGcagagttgaagcaacaaaga	19	2	13	7	2	0	4	0	1	0	3	0	6	0	5	0	2	4	4	0	2	6	1			TCGA-CH-5753-01A-11D-1576-08	TCGA-CH-5753-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05a8fbba-61ac-42a4-b375-87f3a671446b	c1987c4d-84f8-4464-93ad-7e53fd4a6a11	g.chr11:12280080G>A	ENST00000256194.4	+	25	3496	c.3208G>A	c.(3208-3210)Gca>Aca	p.A1070T	RP11-265D17.2_ENST00000527288.1_RNA|MICAL2_ENST00000537344.1_Missense_Mutation_p.A880T|MICAL2_ENST00000379612.3_Missense_Mutation_p.A844T|MICAL2_ENST00000527546.1_Missense_Mutation_p.A880T|MICAL2_ENST00000342902.5_Missense_Mutation_p.A1049T	NM_001282663.1|NM_014632.2	NP_001269592.1|NP_055447.1	O94851	MICA2_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 2	1070					actin filament depolymerization (GO:0030042)|cytoskeleton organization (GO:0007010)|heart development (GO:0007507)|heart looping (GO:0001947)|oxidation-reduction process (GO:0055114)|positive regulation of transcription via serum response element binding (GO:0010735)|sulfur oxidation (GO:0019417)	nucleus (GO:0005634)	actin binding (GO:0003779)|FAD binding (GO:0071949)|NADPH:sulfur oxidoreductase activity (GO:0043914)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen (GO:0016709)|zinc ion binding (GO:0008270)	p.A1070T(1)		breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	47				Epithelial(150;0.00552)		GAAGAGACGGGCAGAGTTGAA	0.428																																						ENST00000256194.4																			1	Substitution - Missense(1)	p.A1070T(1)	prostate(1)	breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	47						c.(3208-3210)Gca>Aca		microtubule associated monooxygenase, calponin and LIM domain containing 2							102	101	101					11																	12280080		2201	4294	6495	SO:0001583	missense	9645					cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding	g.chr11:12280080G>A	AB018293	CCDS7809.1, CCDS60726.1, CCDS60727.1, CCDS60728.1	11p15.3	2014-08-12	2013-03-26		ENSG00000133816	ENSG00000133816			24693	protein-coding gene	gene with protein product		608881				12110185	Standard	XM_005253249		Approved	KIAA0750	uc001mjz.3	O94851	OTTHUMG00000165744	ENST00000256194.4:c.3208G>A	11.37:g.12280080G>A	ENSP00000256194:p.Ala1070Thr					MICAL2_ENST00000379612.3_Missense_Mutation_p.A844T|MICAL2_ENST00000342902.5_Missense_Mutation_p.A1049T|MICAL2_ENST00000537344.1_Missense_Mutation_p.A880T|MICAL2_ENST00000527546.1_Missense_Mutation_p.A880T	p.A1070T	NM_014632.2	NP_055447.1	O94851	MICA2_HUMAN		Epithelial(150;0.00552)	25	3496	+			1070					B4DGZ0|B7Z849|D3DQW5|G3XAC8|Q5KTR3|Q5KTR4|Q7Z3A8	Missense_Mutation	SNP	ENST00000256194.4	37	c.3208G>A	CCDS7809.1	.	.	.	.	.	.	.	.	.	.	G	15.48	2.845156	0.51164	.	.	ENSG00000133816	ENST00000537344;ENST00000544073;ENST00000256194;ENST00000527546;ENST00000342902;ENST00000379612	T;T;T;T;T	0.62364	0.03;0.04;0.03;0.05;0.06	5.69	4.78	0.61160	.	0.000000	0.56097	D	0.000022	T	0.45577	0.1349	N	0.17082	0.46	0.25491	N	0.987642	B;B;B;B;B;B	0.20052	0.032;0.003;0.001;0.041;0.001;0.001	B;B;B;B;B;B	0.20384	0.019;0.007;0.003;0.029;0.004;0.004	T	0.44221	-0.9342	10	0.62326	D	0.03	.	10.3131	0.43721	0.1504:0.0:0.8496:0.0	.	413;1049;880;823;844;1070	B4DYS3;G3XAC8;B7Z849;Q5KTR3;Q5KTR4;O94851	.;.;.;.;.;MICA2_HUMAN	T	880;413;1070;880;1049;844	ENSP00000441689:A880T;ENSP00000256194:A1070T;ENSP00000433965:A880T;ENSP00000344894:A1049T;ENSP00000368932:A844T	ENSP00000256194:A1070T	A	+	1	0	MICAL2	12236656	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.647000	0.54403	1.410000	0.46936	0.655000	0.94253	GCA		0.428	MICAL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385993.1	NM_014632		50	81	0	0	0	0.870114	0	50	81					A	12280080	G	A	12280080	3	1	25	1	0	0	0	0	1	0	0	0	9570	1203	42	3	3298	3	MICAL2	11	12280080	Missense_Mutation	SNP	G	TCGA-CH-5753-01A-11D-1576-08	7107387	12280080	122726436	37	1103											
KCNA4	3739	broad.mit.edu	37	chr11	30034072	30034072	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	accagaacccccgctaccttCgacagcagctgtggccgctg	8	6	10	17	3	0	1	0	0	0	1	1	2	0	1	5	1	4	4	5	1	2	2			TCGA-CH-5753-01A-11D-1576-08	TCGA-CH-5753-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05a8fbba-61ac-42a4-b375-87f3a671446b	c1987c4d-84f8-4464-93ad-7e53fd4a6a11	g.chr11:30034072C>T	ENST00000328224.6	-	2	1387	c.154G>A	c.(154-156)Gaa>Aaa	p.E52K	KCNA4_ENST00000526518.1_5'Flank	NM_002233.3	NP_002224.1	P22459	KCNA4_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 4	52					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	potassium ion binding (GO:0030955)|voltage-gated potassium channel activity (GO:0005249)	p.E52K(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	78					Dalfampridine(DB06637)	CCGCTACCTTCGACAGCAGCT	0.677																																						ENST00000328224.6																			1	Substitution - Missense(1)	p.E52K(1)	prostate(1)	central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	78						c.(154-156)Gaa>Aaa		potassium voltage-gated channel, shaker-related subfamily, member 4							35	37	37					11																	30034072		1838	4054	5892	SO:0001583	missense	3739					voltage-gated potassium channel complex	potassium ion binding|protein binding|voltage-gated potassium channel activity	g.chr11:30034072C>T	M55514	CCDS41629.1	11p14	2012-07-05	2002-07-10			ENSG00000182255		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6222	protein-coding gene	gene with protein product		176266	"potassium voltage-gated channel, shaker-related subfamily, member 4-like"	KCNA4L		2263489, 16382104	Standard	NM_002233		Approved	Kv1.4, HK1, HPCN2	uc001msk.3	P22459		ENST00000328224.6:c.154G>A	11.37:g.30034072C>T	ENSP00000328511:p.Glu52Lys						p.E52K	NM_002233.3	NP_002224.1	P22459	KCNA4_HUMAN			2	1387	-			52						Missense_Mutation	SNP	ENST00000328224.6	37	c.154G>A	CCDS41629.1	.	.	.	.	.	.	.	.	.	.	C	16.00	2.998509	0.54147	.	.	ENSG00000182255	ENST00000328224	D	0.97209	-4.29	4.84	4.84	0.62591	Potassium channel, voltage dependent, Kv1.4, tandem inactivation (2);	3.081050	0.01285	N	0.009849	D	0.94689	0.8287	N	0.14661	0.345	0.51767	D	0.999932	P	0.49783	0.928	B	0.43274	0.414	D	0.83514	0.0082	10	0.21540	T	0.41	.	17.5623	0.87910	0.0:1.0:0.0:0.0	.	52	P22459	KCNA4_HUMAN	K	52	ENSP00000328511:E52K	ENSP00000328511:E52K	E	-	1	0	KCNA4	29990648	1.000000	0.71417	0.758000	0.31321	0.015000	0.08874	7.357000	0.79456	2.239000	0.73571	0.561000	0.74099	GAA		0.677	KCNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388074.2	NM_002233		10	21	0	0	0	0.859065	0	10	21					T	30034072	C	T	30034072	3	4	25	1	0	0	0	0	1	0	0	0	8005	893	31	2	1811	2	KCNA4	11	30034072	Missense_Mutation	SNP	C	TCGA-CH-5753-01A-11D-1576-08	17753992	30034072	104972444	38	1104											
CHRM4	1132	broad.mit.edu	37	chr11	46407006	46407006	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggccacgttggccgcagggcGcatgccagccggcgtggcag	5	4	18	14	5	0	0	0	0	0	0	0	0	0	0	4	5	2	4	4	5	0	1			TCGA-CH-5753-01A-11D-1576-08	TCGA-CH-5753-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05a8fbba-61ac-42a4-b375-87f3a671446b	c1987c4d-84f8-4464-93ad-7e53fd4a6a11	g.chr11:46407006G>T	ENST00000433765.2	-	1	1101	c.1102C>A	c.(1102-1104)Cgc>Agc	p.R368S		NM_000741.2	NP_000732.2	P08173	ACM4_HUMAN	cholinergic receptor, muscarinic 4	368					adenylate cyclase-inhibiting G-protein coupled acetylcholine receptor signaling pathway (GO:0007197)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|regulation of locomotion (GO:0040012)|signal transduction (GO:0007165)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	G-protein coupled acetylcholine receptor activity (GO:0016907)	p.R368S(1)		breast(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(6)|prostate(3)|skin(1)	20				GBM - Glioblastoma multiforme(35;0.0254)|Lung(87;0.14)	Aclidinium(DB08897)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Aripiprazole(DB01238)|Atropine(DB00572)|Brompheniramine(DB00835)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Cryptenamine(DB00785)|Darifenacin(DB00496)|Desipramine(DB01151)|Doxepin(DB01142)|Fesoterodine(DB06702)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Imipramine(DB00458)|Isopropamide(DB01625)|Ketamine(DB01221)|Loxapine(DB00408)|Maprotiline(DB00934)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Nicardipine(DB00622)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Paroxetine(DB00715)|Pethidine(DB00454)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Scopolamine(DB00747)|Solifenacin(DB01591)|Tolterodine(DB01036)|Trihexyphenidyl(DB00376)|Trimipramine(DB00726)|Tropicamide(DB00809)|Ziprasidone(DB00246)	GCCGCAGGGCGCATGCCAGCC	0.627																																					Esophageal Squamous(171;1020 1936 4566 30205 42542)	ENST00000433765.2																			1	Substitution - Missense(1)	p.R368S(1)	prostate(1)	breast(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(6)|prostate(3)|skin(1)	20						c.(1102-1104)Cgc>Agc		cholinergic receptor, muscarinic 4	Atropine(DB00572)|Benzquinamide(DB00767)|Cryptenamine(DB00785)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Thiethylperazine(DB00372)|Tropicamide(DB00809)						99	109	106					11																	46407006		2130	4226	6356	SO:0001583	missense	1132				cell proliferation	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity	g.chr11:46407006G>T	M16405	CCDS44581.1	11p12-p11.2	2012-08-08			ENSG00000180720	ENSG00000180720		"Cholinergic receptors", "GPCR / Class A : Cholinergic receptors, muscarinic"	1953	protein-coding gene	gene with protein product	"acetylcholine receptor, muscarinic 4"	118495				1577490	Standard	NM_000741		Approved		uc001nct.1	P08173	OTTHUMG00000154371	ENST00000433765.2:c.1102C>A	11.37:g.46407006G>T	ENSP00000409378:p.Arg368Ser						p.R368S	NM_000741.2	NP_000732.2	P08173	ACM4_HUMAN		GBM - Glioblastoma multiforme(35;0.0254)|Lung(87;0.14)	1	1101	-			368					B2RPP4|Q0VD60|Q4VBK7	Missense_Mutation	SNP	ENST00000433765.2	37	c.1102C>A	CCDS44581.1	.	.	.	.	.	.	.	.	.	.	g	6.362	0.434873	0.12045	.	.	ENSG00000180720	ENST00000433765	T	0.59083	0.29	4.44	4.44	0.53790	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.49287	0.1548	L	0.48260	1.515	0.48762	D	0.999702	P	0.34699	0.464	B	0.37989	0.262	T	0.37753	-0.9692	9	0.16896	T	0.51	-21.0621	10.8456	0.46741	0.0868:0.0:0.9132:0.0	.	368	P08173	ACM4_HUMAN	S	368	ENSP00000409378:R368S	ENSP00000409378:R368S	R	-	1	0	CHRM4	46363582	1.000000	0.71417	1.000000	0.80357	0.383000	0.30230	5.336000	0.65935	2.307000	0.77673	0.457000	0.33378	CGC		0.627	CHRM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334985.1	NM_000741		7	75	1	0	3.27435e-08	0.457914	4.03362e-08	7	75					T	46407006	G	T	46407006	3	4	25	1	0	0	0	0	1	0	0	0	3379	1087	38	5	341	5	CHRM4	11	46407006	Missense_Mutation	SNP	G	TCGA-CH-5753-01A-11D-1576-08	16372934	46407006	88599510	39	1105											
OR4C16	219428	broad.mit.edu	37	chr11	55339695	55339695	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtgtttgttatttttttgcGtctctacttgggaacactgt	6	20	9	6	1	1	0	0	0	1	0	2	1	1	1	0	1	3	2	0	1	3	7	rs374191202		TCGA-CH-5753-01A-11D-1576-08	TCGA-CH-5753-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05a8fbba-61ac-42a4-b375-87f3a671446b	c1987c4d-84f8-4464-93ad-7e53fd4a6a11	g.chr11:55339695G>A	ENST00000314634.3	+	1	92	c.92G>A	c.(91-93)cGt>cAt	p.R31H		NM_001004701.2	NP_001004701.2	Q8NGL9	OR4CG_HUMAN	olfactory receptor, family 4, subfamily C, member 16 (gene/pseudogene)	31						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R31H(2)|p.R31L(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(28)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41		all_epithelial(135;0.0748)				ATTTTTTTGCGTCTCTACTTG	0.368													g|||	1	0.000199681	0	0	5008	,	,		18843	0		0	False		,,,				2504	0.001					ENST00000314634.3																			3	Substitution - Missense(3)	p.R31H(2)|p.R31L(1)	prostate(2)|lung(1)	central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(28)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41						c.(91-93)cGt>cAt		olfactory receptor, family 4, subfamily C, member 16 (gene/pseudogene)							189	177	181					11																	55339695		2201	4296	6497	SO:0001583	missense	219428				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55339695G>A	AB065773	CCDS31502.1	11q11	2013-10-10	2013-10-10		ENSG00000181935	ENSG00000181935		"GPCR / Class A : Olfactory receptors"	15172	protein-coding gene	gene with protein product			"olfactory receptor, family 4, subfamily C, member 16"				Standard	NM_001004701		Approved		uc010rih.2	Q8NGL9	OTTHUMG00000165198	ENST00000314634.3:c.92G>A	11.37:g.55339695G>A	ENSP00000324913:p.Arg31His						p.R31H	NM_001004701.2	NP_001004701.2	Q8NGL9	OR4CG_HUMAN			1	92	+		all_epithelial(135;0.0748)	31					Q6IEV8	Missense_Mutation	SNP	ENST00000314634.3	37	c.92G>A	CCDS31502.1	.	.	.	.	.	.	.	.	.	.	G	11.03	1.519004	0.27211	.	.	ENSG00000181935	ENST00000314634	T	0.00438	7.42	4.98	3.85	0.44370	.	2.239510	0.01631	N	0.023546	T	0.00300	0.0009	N	0.14661	0.345	0.09310	N	1	B	0.25351	0.124	B	0.12837	0.008	T	0.47156	-0.9139	10	0.87932	D	0	.	9.0123	0.36148	0.0:0.0:0.1863:0.8137	.	31	Q8NGL9	OR4CG_HUMAN	H	31	ENSP00000324913:R31H	ENSP00000324913:R31H	R	+	2	0	OR4C16	55096271	0.000000	0.05858	0.001000	0.08648	0.000000	0.00434	-0.003000	0.12901	0.915000	0.36847	-0.425000	0.05940	CGT		0.368	OR4C16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382627.1	NM_001004701		79	204	0	0	0	0.870114	0	79	204					A	55339695	G	A	55339695	3	1	25	1	0	0	0	0	1	0	0	0	11049	1145	40	1	94	1	OR4C16	11	55339695	Missense_Mutation	SNP	G	TCGA-CH-5753-01A-11D-1576-08	8932689	55339695	79666821	40	1106											
HAL	3034	broad.mit.edu	37	chr12	96389484	96389484	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctctagggccacctcgagccGgtcctcgttgtccagcaggc	5	8	12	16	3	1	0	0	0	1	0	5	1	3	0	5	3	2	2	5	3	1	2			TCGA-CH-5753-01A-11D-1576-08	TCGA-CH-5753-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05a8fbba-61ac-42a4-b375-87f3a671446b	c1987c4d-84f8-4464-93ad-7e53fd4a6a11	g.chr12:96389484G>A	ENST00000261208.3	-	2	573	c.205C>T	c.(205-207)Cgg>Tgg	p.R69W	RP11-256L6.3_ENST00000551849.1_RNA|HAL_ENST00000541929.1_5'UTR|HAL_ENST00000538703.1_Missense_Mutation_p.R69W	NM_002108.3	NP_002099.1	P42357	HUTH_HUMAN	histidine ammonia-lyase	69					biosynthetic process (GO:0009058)|cellular nitrogen compound metabolic process (GO:0034641)|histidine catabolic process (GO:0006548)|histidine catabolic process to glutamate and formamide (GO:0019556)|histidine catabolic process to glutamate and formate (GO:0019557)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	histidine ammonia-lyase activity (GO:0004397)			NS(2)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	34					L-Histidine(DB00117)	ACCTCGAGCCGGTCCTCGTTG	0.612																																					NSCLC(169;943 2815 23563 30031)	ENST00000261208.3																			0				NS(2)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	34						c.(205-207)Cgg>Tgg		histidine ammonia-lyase	L-Histidine(DB00117)						59	52	55					12																	96389484		2203	4298	6501	SO:0001583	missense	3034				biosynthetic process|histidine catabolic process	cytosol	histidine ammonia-lyase activity	g.chr12:96389484G>A		CCDS9058.1, CCDS58264.1, CCDS58265.1	12q22-q24.1	1991-07-12				ENSG00000084110	4.3.1.3		4806	protein-coding gene	gene with protein product		609457		HIS			Standard	NM_002108		Approved		uc001tem.2	P42357	OTTHUMG00000170354	ENST00000261208.3:c.205C>T	12.37:g.96389484G>A	ENSP00000261208:p.Arg69Trp					HAL_ENST00000538703.1_Missense_Mutation_p.R69W|HAL_ENST00000541929.1_5'UTR	p.R69W	NM_002108.3	NP_002099.1	P42357	HUTH_HUMAN			2	573	-			69					B4DQC1|B4E0V8|F5GXF2|F5H1U5|Q4VB92|Q4VB93	Missense_Mutation	SNP	ENST00000261208.3	37	c.205C>T	CCDS9058.1	.	.	.	.	.	.	.	.	.	.	G	9.703	1.155091	0.21371	.	.	ENSG00000084110	ENST00000261208;ENST00000538703;ENST00000552509	T;T;D	0.86030	-1.06;-1.06;-2.06	5.29	-0.128	0.13506	.	1.008340	0.07951	N	0.980828	T	0.69433	0.3110	N	0.14661	0.345	0.39529	D	0.96863	P;P	0.37864	0.61;0.536	B;B	0.36885	0.235;0.036	T	0.60737	-0.7204	10	0.66056	D	0.02	0.1674	1.5693	0.02612	0.1477:0.1902:0.2991:0.3631	.	69;69	F5GXF2;P42357	.;HUTH_HUMAN	W	69	ENSP00000261208:R69W;ENSP00000440861:R69W;ENSP00000450372:R69W	ENSP00000261208:R69W	R	-	1	2	HAL	94913615	0.030000	0.19436	0.047000	0.18901	0.017000	0.09413	0.228000	0.17814	-0.207000	0.10187	0.561000	0.74099	CGG		0.612	HAL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408644.1			3	70	0	0	0	0.115264	0	3	70					A	96389484	G	A	96389484	3	1	25	1	0	0	0	0	1	0	0	0	6947	1115	39	2	1848	2	HAL	12	96389484	Missense_Mutation	SNP	G	TCGA-CH-5753-01A-11D-1576-08		96389484	37462411	41	1107											
MLEC	9761	broad.mit.edu	37	chr12	121132062	121132062	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	agaggtctactttgcacagtCccagcaaaaggtgaggccta	12	8	11	10	0	1	2	0	1	1	1	2	2	2	2	2	3	3	2	2	3	4	3			TCGA-CH-5753-01A-11D-1576-08	TCGA-CH-5753-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05a8fbba-61ac-42a4-b375-87f3a671446b	c1987c4d-84f8-4464-93ad-7e53fd4a6a11	g.chr12:121132062C>A	ENST00000228506.3	+	2	832	c.404C>A	c.(403-405)tCc>tAc	p.S135Y	RP11-173P15.3_ENST00000541383.1_RNA|MLEC_ENST00000412616.2_Missense_Mutation_p.S135Y	NM_014730.2	NP_055545.1	Q14165	MLEC_HUMAN	malectin	135					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)|enzyme binding (GO:0019899)	p.S135Y(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)	16						TTTGCACAGTCCCAGCAAAAG	0.522																																						ENST00000228506.3																			1	Substitution - Missense(1)	p.S135Y(1)	prostate(1)	breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)	16						c.(403-405)tCc>tAc		malectin							85	76	79					12																	121132062		2203	4300	6503	SO:0001583	missense	9761				post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	carbohydrate binding	g.chr12:121132062C>A	BC000371	CCDS9206.1	12q24.31	2013-03-06	2008-11-05	2008-11-05	ENSG00000110917	ENSG00000110917			28973	protein-coding gene	gene with protein product	"oligosaccharyltransferase complex subunit (non-catalytic)"	613802	"KIAA0152"	KIAA0152		18524852	Standard	NM_014730		Approved		uc001tyy.1	Q14165	OTTHUMG00000169187	ENST00000228506.3:c.404C>A	12.37:g.121132062C>A	ENSP00000228506:p.Ser135Tyr					MLEC_ENST00000412616.2_Missense_Mutation_p.S135Y	p.S135Y	NM_014730.2	NP_055545.1	Q14165	MLEC_HUMAN			2	832	+			135						Missense_Mutation	SNP	ENST00000228506.3	37	c.404C>A	CCDS9206.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.034872	0.75617	.	.	ENSG00000110917	ENST00000228506;ENST00000412616;ENST00000545525	.	.	.	5.5	4.59	0.56863	Malectin (1);	0.000000	0.85682	D	0.000000	T	0.77103	0.4081	M	0.68952	2.095	0.80722	D	1	D	0.89917	1.0	D	0.72982	0.979	T	0.80261	-0.1456	9	0.72032	D	0.01	.	15.865	0.79057	0.1366:0.8634:0.0:0.0	.	135	Q14165	MLEC_HUMAN	Y	135;135;52	.	ENSP00000228506:S135Y	S	+	2	0	MLEC	119616445	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.434000	0.80377	1.428000	0.47296	0.655000	0.94253	TCC		0.522	MLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402781.2	NM_014730		37	87	1	0	9.8876e-21	0.804634	1.3132e-20	37	87					A	121132062	C	A	121132062	3	1	25	1	0	0	0	0	1	0	0	0	9613	855	30	5	410	5	MLEC	12	121132062	Missense_Mutation	SNP	C	TCGA-CH-5753-01A-11D-1576-08	24742578	121132062	12719833	42	1108											
WDR66	144406	broad.mit.edu	37	chr12	122396884	122396884	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctggctttacagaggggacaGtttacattcttgatgcaatg	10	13	11	7	0	1	2	0	1	1	1	1	3	1	3	0	3	3	3	0	3	3	6			TCGA-CH-5753-01A-11D-1576-08	TCGA-CH-5753-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05a8fbba-61ac-42a4-b375-87f3a671446b	c1987c4d-84f8-4464-93ad-7e53fd4a6a11	g.chr12:122396884G>C	ENST00000288912.4	+	13	2871	c.2017G>C	c.(2017-2019)Gtt>Ctt	p.V673L	WDR66_ENST00000397454.2_Missense_Mutation_p.V673L	NM_144668.5	NP_653269.3	Q8TBY9	WDR66_HUMAN	WD repeat domain 66	673							calcium ion binding (GO:0005509)	p.V673L(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(13)|ovary(2)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	all_neural(191;0.0496)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000155)|Epithelial(86;0.000634)|BRCA - Breast invasive adenocarcinoma(302;0.248)		AGAGGGGACAGTTTACATTCT	0.423																																					Esophageal Squamous(85;849 1794 49757 52143)	ENST00000288912.4																			1	Substitution - Missense(1)	p.V673L(1)	prostate(1)	breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(13)|ovary(2)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						c.(2017-2019)Gtt>Ctt		WD repeat domain 66							142	133	136					12																	122396884		1867	4102	5969	SO:0001583	missense	144406						calcium ion binding	g.chr12:122396884G>C	AL833930	CCDS41853.1, CCDS53840.1	12q24.31	2014-07-31			ENSG00000158023	ENSG00000158023		"WD repeat domain containing"	28506	protein-coding gene	gene with protein product						17967944	Standard	NM_001178003		Approved	MGC33630, CaM-IP4	uc009zxk.3	Q8TBY9	OTTHUMG00000168948	ENST00000288912.4:c.2017G>C	12.37:g.122396884G>C	ENSP00000288912:p.Val673Leu					WDR66_ENST00000397454.2_Missense_Mutation_p.V673L	p.V673L	NM_144668.5	NP_653269.3	Q8TBY9	WDR66_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000155)|Epithelial(86;0.000634)|BRCA - Breast invasive adenocarcinoma(302;0.248)	13	2871	+	all_neural(191;0.0496)|Medulloblastoma(191;0.0922)		673					C9J1W2|Q8IYA3|Q8N898|Q8NDE7	Missense_Mutation	SNP	ENST00000288912.4	37	c.2017G>C	CCDS41853.1	.	.	.	.	.	.	.	.	.	.	G	16.56	3.156930	0.57259	.	.	ENSG00000158023	ENST00000288912;ENST00000397454	T;T	0.65916	0.92;-0.18	4.96	4.96	0.65561	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.065250	0.64402	D	0.000009	T	0.57417	0.2052	L	0.54323	1.7	0.41335	D	0.98726	B	0.31599	0.33	B	0.34093	0.175	T	0.57946	-0.7723	10	0.35671	T	0.21	.	12.3322	0.55046	0.0827:0.0:0.9173:0.0	.	673	Q8TBY9	WDR66_HUMAN	L	673	ENSP00000288912:V673L;ENSP00000380595:V673L	ENSP00000288912:V673L	V	+	1	0	WDR66	120881267	1.000000	0.71417	0.999000	0.59377	0.578000	0.36192	3.945000	0.56637	2.268000	0.75426	0.561000	0.74099	GTT		0.423	WDR66-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401700.1	NM_144668		83	140	0	0	0	0.870114	0	83	140					C	122396884	G	C	122396884	3	2	25	1	0	0	0	0	1	0	0	0	17314	1029	36	5	2063	5	WDR66	12	122396884	Missense_Mutation	SNP	G	TCGA-CH-5753-01A-11D-1576-08	1264822	122396884	11455011	43	1109											
NYNRIN	57523	broad.mit.edu	37	chr14	24878180	24878180	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcttcaatttccccttctggCagagacctctgggccccatt	6	12	8	15	0	3	1	1	0	2	1	4	2	4	1	5	2	0	2	5	2	1	4			TCGA-CH-5753-01A-11D-1576-08	TCGA-CH-5753-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05a8fbba-61ac-42a4-b375-87f3a671446b	c1987c4d-84f8-4464-93ad-7e53fd4a6a11	g.chr14:24878180C>A	ENST00000382554.3	+	4	1498	c.1180C>A	c.(1180-1182)Cag>Aag	p.Q394K		NM_025081.2	NP_079357.2	Q9P2P1	NYNRI_HUMAN	NYN domain and retroviral integrase containing	394					DNA integration (GO:0015074)	integral component of membrane (GO:0016021)	nucleic acid binding (GO:0003676)	p.Q394K(1)		breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						CCCCTTCTGGCAGAGACCTCT	0.567																																						ENST00000382554.3																			1	Substitution - Missense(1)	p.Q394K(1)	prostate(1)	breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						c.(1180-1182)Cag>Aag		NYN domain and retroviral integrase containing							28	29	28					14																	24878180		1890	4105	5995	SO:0001583	missense	57523				DNA integration	integral to membrane	DNA binding	g.chr14:24878180C>A	AB037726	CCDS45090.1	14q11.2	2009-10-14	2009-10-14	2009-10-14		ENSG00000205978			20165	protein-coding gene	gene with protein product	"Cousin of GIN1"		"KIAA1305"	KIAA1305		19561090, 17114934	Standard	NM_025081		Approved	FLJ11811, CGIN1	uc001wpf.4	Q9P2P1		ENST00000382554.3:c.1180C>A	14.37:g.24878180C>A	ENSP00000371994:p.Gln394Lys						p.Q394K	NM_025081.2	NP_079357.2	Q9P2P1	NYNRI_HUMAN			4	1498	+			394					Q6P153|Q86TR3|Q9HAC4	Missense_Mutation	SNP	ENST00000382554.3	37	c.1180C>A	CCDS45090.1	.	.	.	.	.	.	.	.	.	.	C	19.31	3.802780	0.70682	.	.	ENSG00000205978	ENST00000382554	T	0.21361	2.01	5.55	3.66	0.41972	.	0.714512	0.12042	N	0.504980	T	0.18299	0.0439	L	0.27053	0.805	0.24593	N	0.993813	D	0.53885	0.963	P	0.47528	0.549	T	0.07121	-1.0789	10	0.87932	D	0	.	6.8971	0.24262	0.0:0.7318:0.1771:0.0911	.	394	Q9P2P1	NYNRI_HUMAN	K	394	ENSP00000371994:Q394K	ENSP00000371994:Q394K	Q	+	1	0	NYNRIN	23948020	1.000000	0.71417	1.000000	0.80357	0.901000	0.52897	2.267000	0.43329	2.885000	0.99019	0.655000	0.94253	CAG		0.567	NYNRIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412939.1			11	34	1	0	5.50884e-06	0.411799	6.50349e-06	11	34					A	24878180	C	A	24878180	3	1	25	1	0	0	0	0	1	0	0	0	10796	711	25	5	1190	5	NYNRIN	14	24878180	Missense_Mutation	SNP	C	TCGA-CH-5753-01A-11D-1576-08		24878180	82471360	44	1110											
NRXN3	9369	broad.mit.edu	37	chr14	80271470	80271470	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacagccaacatcagatgatCttgtttcatctgctgaatgt	12	13	7	9	0	4	3	2	2	2	1	4	3	4	3	1	0	4	2	1	0	3	2			TCGA-CH-5753-01A-11D-1576-08	TCGA-CH-5753-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05a8fbba-61ac-42a4-b375-87f3a671446b	c1987c4d-84f8-4464-93ad-7e53fd4a6a11	g.chr14:80271470C>A	ENST00000557594.1	+	5	1878	c.925C>A	c.(925-927)Ctt>Att	p.L309I	NRXN3_ENST00000428277.2_Missense_Mutation_p.L339I|NRXN3_ENST00000281127.7_Missense_Mutation_p.L309I|NRXN3_ENST00000556003.1_Intron|NRXN3_ENST00000335750.5_Missense_Mutation_p.L941I|NRXN3_ENST00000554719.1_Missense_Mutation_p.L941I	NM_001272020.1	NP_001258949.1	Q9HDB5	NRX3B_HUMAN	neurexin 3	309					adult behavior (GO:0030534)|angiogenesis (GO:0001525)|learning (GO:0007612)|neuron cell-cell adhesion (GO:0007158)|neurotransmitter secretion (GO:0007269)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synapse maturation (GO:0090129)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|vocalization behavior (GO:0071625)	integral component of membrane (GO:0016021)	cell adhesion molecule binding (GO:0050839)|neuroligin family protein binding (GO:0097109)	p.L941I(1)|p.L339I(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		ATCAGATGATCTTGTTTCATC	0.383																																						ENST00000281127.7																			2	Substitution - Missense(2)	p.L941I(1)|p.L339I(1)	prostate(2)	NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104						c.(925-927)Ctt>Att		neurexin 3							232	206	215					14																	80271470		2203	4300	6503	SO:0001583	missense	9369				angiogenesis|cell adhesion	integral to membrane		g.chr14:80271470C>A	AB018286	CCDS9870.1, CCDS9871.1, CCDS45145.1, CCDS61515.1	14q31	2010-01-19				ENSG00000021645			8010	protein-coding gene	gene with protein product		600567	"chromosome 14 open reading frame 60"	C14orf60		11944992, 12379233	Standard	NM_004796		Approved	KIAA0743	uc001xun.4	Q9HDB5		ENST00000557594.1:c.925C>A	14.37:g.80271470C>A	ENSP00000451672:p.Leu309Ile					NRXN3_ENST00000557594.1_Missense_Mutation_p.L309I|NRXN3_ENST00000428277.2_Missense_Mutation_p.L339I|NRXN3_ENST00000556003.1_Intron|NRXN3_ENST00000335750.5_Missense_Mutation_p.L941I|NRXN3_ENST00000554719.1_Missense_Mutation_p.L941I	p.L309I	NM_138970.3	NP_620426.2	Q9HDB5	NRX3B_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)	5	1804	+		Renal(4;0.00876)	309					A5PKW8|A8MPU5|B3KPM7|Q6NUR0|Q8IUD8	Missense_Mutation	SNP	ENST00000557594.1	37	c.925C>A		.	.	.	.	.	.	.	.	.	.	C	14.49	2.550544	0.45383	.	.	ENSG00000021645	ENST00000330071;ENST00000332068;ENST00000554719;ENST00000335750;ENST00000557594;ENST00000281127;ENST00000428277	T;T;T;T;T	0.70164	-0.46;-0.46;1.26;1.35;1.11	5.41	5.41	0.78517	.	0.139545	0.45126	D	0.000397	T	0.47911	0.1471	N	0.12182	0.205	0.40452	D	0.980155	B;B;B;B	0.28350	0.008;0.208;0.0;0.024	B;B;B;B	0.29862	0.06;0.108;0.002;0.006	T	0.47142	-0.9140	9	.	.	.	.	13.2808	0.60212	0.2657:0.7342:0.0:0.0	.	339;309;309;941	Q9HDB5-4;Q9HDB5-2;Q9HDB5;Q9Y4C0-3	.;.;NRX3B_HUMAN;.	I	1314;1333;941;941;309;309;339	ENSP00000451648:L941I;ENSP00000338349:L941I;ENSP00000451672:L309I;ENSP00000281127:L309I;ENSP00000394426:L339I	.	L	+	1	0	NRXN3	79341223	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.081000	0.50120	2.532000	0.85374	0.650000	0.86243	CTT		0.383	NRXN3-004	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000413790.1	NM_001105250		9	228	1	0	4.68919e-08	0.361761	5.69402e-08	9	228					A	80271470	C	A	80271470	3	1	25	1	0	0	0	0	1	0	0	0	10667	913	32	5	3220	5	NRXN3	14	80271470	Missense_Mutation	SNP	C	TCGA-CH-5753-01A-11D-1576-08	55393290	80271470	27078070	45	1111											
RYR3	6263	broad.mit.edu	37	chr15	33835896	33835896	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ttgacgataccatctacagaCcagaatgattcccagcacag	14	8	7	12	1	1	4	0	2	1	2	2	5	2	4	3	0	3	1	3	0	3	4			TCGA-CH-5753-01A-11D-1576-08	TCGA-CH-5753-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05a8fbba-61ac-42a4-b375-87f3a671446b	c1987c4d-84f8-4464-93ad-7e53fd4a6a11	g.chr15:33835896C>T	ENST00000389232.4	+	8	790	c.720C>T	c.(718-720)gaC>gaT	p.D240D	RYR3_ENST00000415757.3_Silent_p.D240D	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	240	MIR 3. {ECO:0000255|PROSITE- ProRule:PRU00131}.				calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)	p.D240D(2)		NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		CATCTACAGACCAGAATGATT	0.398																																						ENST00000389232.4																			2	Substitution - coding silent(2)	p.D240D(2)	prostate(2)	NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311						c.(718-720)gaC>gaT		ryanodine receptor 3							239	226	230					15																	33835896		1948	4147	6095	SO:0001819	synonymous_variant	6263				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr15:33835896C>T		CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"Ion channels / Ryanodine receptors", "EF-hand domain containing"	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.720C>T	15.37:g.33835896C>T						RYR3_ENST00000415757.3_Silent_p.D240D	p.D240D	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)	8	790	+		all_lung(180;7.18e-09)	240			MIR 3.		O15175|Q15412	Silent	SNP	ENST00000389232.4	37	c.720C>T	CCDS45210.1																																																																																				0.398	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1			46	262	0	0	0	0.870114	0	46	262					T	33835896	C	T	33835896	2	4	25	1	0	0	0	0	0	0	0	1	13770	506	18	3		3	RYR3	15	33835896	Silent	SNP	C	TCGA-CH-5753-01A-11D-1576-08		33835896	68695496	46	1112											
TGM7	116179	broad.mit.edu	37	chr15	43577105	43577105	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tatccacgttgtgcgcggaaCggaaattggaaacaacacgg	13	7	12	9	5	0	0	0	0	0	0	1	3	1	3	1	4	4	1	1	4	5	3			TCGA-CH-5753-01A-11D-1576-08	TCGA-CH-5753-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05a8fbba-61ac-42a4-b375-87f3a671446b	c1987c4d-84f8-4464-93ad-7e53fd4a6a11	g.chr15:43577105C>T	ENST00000452443.2	-	7	915	c.911G>A	c.(910-912)cGt>cAt	p.R304H		NM_052955.2	NP_443187.1	Q96PF1	TGM7_HUMAN	transglutaminase 7	304					peptide cross-linking (GO:0018149)		metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)	p.R304H(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(2)|prostate(4)|skin(1)	39		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;9.14e-07)	L-Glutamine(DB00130)	GTGCGCGGAACGGAAATTGGA	0.423																																						ENST00000452443.2																			1	Substitution - Missense(1)	p.R304H(1)	prostate(1)	breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(2)|prostate(4)|skin(1)	39						c.(910-912)cGt>cAt		transglutaminase 7	L-Glutamine(DB00130)						189	155	166					15																	43577105		2202	4299	6501	SO:0001583	missense	116179				peptide cross-linking		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity	g.chr15:43577105C>T	AF363393	CCDS32213.1	15q15.2	2004-07-01				ENSG00000159495		"Transglutaminases"	30790	protein-coding gene	gene with protein product	"transglutaminase Z"	606776				11390390	Standard	NM_052955		Approved	TGMZ	uc001zrf.1	Q96PF1		ENST00000452443.2:c.911G>A	15.37:g.43577105C>T	ENSP00000389466:p.Arg304His						p.R304H	NM_052955.2	NP_443187.1	Q96PF1	TGM7_HUMAN		GBM - Glioblastoma multiforme(94;9.14e-07)	7	915	-		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)	304						Missense_Mutation	SNP	ENST00000452443.2	37	c.911G>A	CCDS32213.1	.	.	.	.	.	.	.	.	.	.	C	15.24	2.774127	0.49786	.	.	ENSG00000159495	ENST00000452443	T	0.50813	0.73	5.63	2.25	0.28309	Transglutaminase-like (2);	0.272836	0.36200	N	0.002722	T	0.29190	0.0726	N	0.22421	0.69	0.25009	N	0.991413	B	0.19583	0.037	B	0.12837	0.008	T	0.14364	-1.0475	10	0.30854	T	0.27	-5.2273	8.0184	0.30395	0.0:0.6504:0.0:0.3496	.	304	Q96PF1	TGM7_HUMAN	H	304	ENSP00000389466:R304H	ENSP00000389466:R304H	R	-	2	0	TGM7	41364397	0.491000	0.26019	0.992000	0.48379	0.993000	0.82548	0.587000	0.23909	0.160000	0.19432	0.655000	0.94253	CGT		0.423	TGM7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432489.1	NM_052955		41	205	0	0	0	0.827153	0	41	205					T	43577105	C	T	43577105	3	4	25	1	0	0	0	0	1	0	0	0	15832	536	19	1	1249	1	TGM7	15	43577105	Missense_Mutation	SNP	C	TCGA-CH-5753-01A-11D-1576-08	9741209	43577105	58954287	47	1113											
STRC	161497	broad.mit.edu	37	chr15	43896963	43896963	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatctgtagggggatctgtcGtgtgctctctgtccccagga	5	12	14	10	1	3	0	0	0	3	0	6	3	4	2	2	3	1	2	2	3	1	1			TCGA-CH-5753-01A-11D-1576-08	TCGA-CH-5753-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05a8fbba-61ac-42a4-b375-87f3a671446b	c1987c4d-84f8-4464-93ad-7e53fd4a6a11	g.chr15:43896963G>A	ENST00000450892.2	-	20	4089	c.4012C>T	c.(4012-4014)Cga>Tga	p.R1338*	RNU6-554P_ENST00000410466.1_RNA|STRC_ENST00000541030.1_Nonsense_Mutation_p.R565*	NM_153700.2	NP_714544.1	Q7RTU9	STRC_HUMAN	stereocilin	1338					auditory receptor cell stereocilium organization (GO:0060088)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)	kinocilium (GO:0060091)|stereocilium bundle tip (GO:0032426)		p.R1338*(1)		skin(4)	4		all_cancers(109;3.26e-15)|all_epithelial(112;1.48e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.56e-07)		GGGATCTGTCGTGTGCTCTCT	0.552																																						ENST00000450892.2																			1	Substitution - Nonsense(1)	p.R1338*(1)	prostate(1)	skin(4)	4						c.(4012-4014)Cga>Tga		stereocilin							32	32	32					15																	43896963		2199	4293	6492	SO:0001587	stop_gained	161497				sensory perception of sound	cell surface		g.chr15:43896963G>A	BK000138	CCDS10098.1	15q15.3	2010-02-26			ENSG00000242866	ENSG00000242866			16035	protein-coding gene	gene with protein product		606440		DFNB16		11687802, 9429146	Standard	NM_153700		Approved		uc001zsf.3	Q7RTU9	OTTHUMG00000059899	ENST00000450892.2:c.4012C>T	15.37:g.43896963G>A	ENSP00000401513:p.Arg1338*					STRC_ENST00000541030.1_Nonsense_Mutation_p.R565*	p.R1338*	NM_153700.2	NP_714544.1	Q7RTU9	STRC_HUMAN		GBM - Glioblastoma multiforme(94;3.56e-07)	20	4089	-		all_cancers(109;3.26e-15)|all_epithelial(112;1.48e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)	1338						Nonsense_Mutation	SNP	ENST00000450892.2	37	c.4012C>T	CCDS10098.1	.	.	.	.	.	.	.	.	.	.	G	40	8.002301	0.98605	.	.	ENSG00000242866	ENST00000450892;ENST00000299992;ENST00000541030	.	.	.	5.63	0.933	0.19471	.	0.241827	0.27871	N	0.017514	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.14252	T	0.57	-8.7215	7.5989	0.28065	0.0:0.2008:0.3769:0.4223	.	.	.	.	X	1338;1338;565	.	ENSP00000299992:R1338X	R	-	1	2	STRC	41684255	0.856000	0.29760	0.984000	0.44739	0.964000	0.63967	0.557000	0.23454	0.360000	0.24265	-1.426000	0.01102	CGA		0.552	STRC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133140.1	NM_153700		44	50	0	0	0	0.870114	0	44	50					A	43896963	G	A	43896963	4	1	25	1	0	0	0	0	0	1	0	0	15327	1153	40	1	1355	1	STRC	15	43896963	Nonsense_Mutation	SNP	G	TCGA-CH-5753-01A-11D-1576-08	319858	43896963	58634429	48	1114											
CEP152	22995	broad.mit.edu	37	chr15	49036526	49036526	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ggcaagcattttcaatggccCctgctgacaatgacctaaaa	13	9	8	11	0	1	2	1	2	0	0	1	2	1	2	3	2	2	3	3	2	5	3			TCGA-CH-5753-01A-11D-1576-08	TCGA-CH-5753-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05a8fbba-61ac-42a4-b375-87f3a671446b	c1987c4d-84f8-4464-93ad-7e53fd4a6a11	g.chr15:49036526C>T	ENST00000380950.2	-	24	3933	c.3746G>A	c.(3745-3747)gGg>gAg	p.G1249E	CEP152_ENST00000399334.3_Missense_Mutation_p.G1193E|CEP152_ENST00000325747.5_Missense_Mutation_p.G1156E	NM_001194998.1|NM_014985.3	NP_001181927.1|NP_055800.2	O94986	CE152_HUMAN	centrosomal protein 152kDa	1249					cell projection organization (GO:0030030)|centriole replication (GO:0007099)|centrosome duplication (GO:0051298)|de novo centriole assembly (GO:0098535)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytosol (GO:0005829)|deuterosome (GO:0098536)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)	p.G1193E(1)		breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(16)|lung(30)|ovary(1)|prostate(2)|skin(2)	63		all_lung(180;0.0428)		all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06)		TTCAATGGCCCCTGCTGACAA	0.338																																						ENST00000380950.2																			1	Substitution - Missense(1)	p.G1193E(1)	prostate(1)	breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(16)|lung(30)|ovary(1)|prostate(2)|skin(2)	63						c.(3745-3747)gGg>gAg		centrosomal protein 152kDa							52	48	49					15																	49036526		1809	4069	5878	SO:0001583	missense	22995				centrosome duplication|G2/M transition of mitotic cell cycle	centrosome|cytosol	protein kinase binding	g.chr15:49036526C>T	AB020719	CCDS42033.1, CCDS58361.1	15q21.1	2014-02-20							29298	protein-coding gene	gene with protein product	"asterless"	613529	"microcephaly, primary autosomal recessive 4"	MCPH4		14654843, 21131973	Standard	NM_014985		Approved	KIAA0912, SCKL5	uc001zwz.3	O94986		ENST00000380950.2:c.3746G>A	15.37:g.49036526C>T	ENSP00000370337:p.Gly1249Glu					CEP152_ENST00000399334.3_Missense_Mutation_p.G1193E|CEP152_ENST00000325747.5_Missense_Mutation_p.G1156E	p.G1249E	NM_001194998.1|NM_014985.3	NP_001181927.1|NP_055800.2	O94986	CE152_HUMAN		all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06)	24	3933	-		all_lung(180;0.0428)	1193					E7ER66|Q17RV1|Q6NTA0	Missense_Mutation	SNP	ENST00000380950.2	37	c.3746G>A	CCDS58361.1	.	.	.	.	.	.	.	.	.	.	C	15.49	2.848658	0.51164	.	.	ENSG00000103995	ENST00000380950;ENST00000325747;ENST00000399334	T;T;T	0.59502	0.58;0.64;0.26	5.09	5.09	0.68999	.	0.082143	0.49305	D	0.000153	T	0.71048	0.3294	M	0.70595	2.14	0.40965	D	0.984657	D;D;D	0.89917	1.0;0.987;0.987	D;P;P	0.97110	1.0;0.621;0.621	T	0.69072	-0.5242	10	0.27785	T	0.31	-20.8622	10.5093	0.44853	0.0:0.8489:0.0:0.1511	.	1156;1249;1193	O94986-1;E7ER66;O94986	.;.;CE152_HUMAN	E	1249;1156;1193	ENSP00000370337:G1249E;ENSP00000321000:G1156E;ENSP00000382271:G1193E	ENSP00000321000:G1156E	G	-	2	0	CEP152	46823818	0.934000	0.31675	0.971000	0.41717	0.759000	0.43091	1.792000	0.38754	2.531000	0.85337	0.460000	0.39030	GGG		0.338	CEP152-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417365.1	NM_014985		47	58	0	0	0	0.870114	0	47	58					T	49036526	C	T	49036526	3	4	25	1	0	0	0	0	1	0	0	0	3248	623	22	3	1402	3	CEP152	15	49036526	Missense_Mutation	SNP	C	TCGA-CH-5753-01A-11D-1576-08	5139563	49036526	53494866	49	1115											
VPS13C	54832	broad.mit.edu	37	chr15	62266506	62266506	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cctgtctctctggagactggGctgatgatttctgtggcaaa	7	13	12	9	0	3	3	0	2	3	1	4	4	3	3	1	3	0	2	1	3	1	1			TCGA-CH-5753-01A-11D-1576-08	TCGA-CH-5753-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05a8fbba-61ac-42a4-b375-87f3a671446b	c1987c4d-84f8-4464-93ad-7e53fd4a6a11	g.chr15:62266506G>A	ENST00000261517.5	-	25	2592	c.2519C>T	c.(2518-2520)gCc>gTc	p.A840V	VPS13C_ENST00000395896.4_Missense_Mutation_p.A840V|VPS13C_ENST00000395898.3_Missense_Mutation_p.A797V|VPS13C_ENST00000249837.3_Missense_Mutation_p.A797V	NM_020821.2	NP_065872.1			vacuolar protein sorting 13 homolog C (S. cerevisiae)									p.A840V(1)		NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						TGGAGACTGGGCTGATGATTT	0.373																																						ENST00000261517.5																			1	Substitution - Missense(1)	p.A840V(1)	prostate(1)	NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						c.(2518-2520)gCc>gTc		vacuolar protein sorting 13 homolog C (S. cerevisiae)							120	113	116					15																	62266506		2203	4300	6503	SO:0001583	missense	54832				protein localization			g.chr15:62266506G>A	AJ608770	CCDS10180.1, CCDS32257.1, CCDS45272.1, CCDS58367.1	15q21.3	2009-07-09	2006-04-04		ENSG00000129003	ENSG00000129003			23594	protein-coding gene	gene with protein product		608879	"vacuolar protein sorting 13C (yeast)"				Standard	NM_018080		Approved	FLJ20136, FLJ10381, KIAA1421	uc002agz.3	Q709C8	OTTHUMG00000132801	ENST00000261517.5:c.2519C>T	15.37:g.62266506G>A	ENSP00000261517:p.Ala840Val					VPS13C_ENST00000249837.3_Missense_Mutation_p.A797V|VPS13C_ENST00000395898.3_Missense_Mutation_p.A797V|VPS13C_ENST00000395896.4_Missense_Mutation_p.A840V	p.A840V	NM_020821.2	NP_065872.1	Q709C8	VP13C_HUMAN			25	2592	-			840						Missense_Mutation	SNP	ENST00000261517.5	37	c.2519C>T	CCDS32257.1	.	.	.	.	.	.	.	.	.	.	G	1.608	-0.524692	0.04141	.	.	ENSG00000129003	ENST00000249837;ENST00000261517;ENST00000395896;ENST00000395898	T;T;T	0.46063	0.88;0.88;1.04	4.79	-0.563	0.11778	.	0.789478	0.11759	N	0.532285	T	0.20292	0.0488	N	0.17474	0.49	0.09310	N	1	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.08055	0.003;0.002;0.001;0.001	T	0.19614	-1.0300	10	0.21540	T	0.41	.	3.4715	0.07569	0.3162:0.0:0.3915:0.2923	.	797;840;797;840	Q709C8-4;Q709C8-2;Q709C8-3;Q709C8	.;.;.;VP13C_HUMAN	V	797;840;840;840	ENSP00000249837:A797V;ENSP00000261517:A840V;ENSP00000379233:A840V	ENSP00000249837:A797V	A	-	2	0	VPS13C	60053798	0.000000	0.05858	0.000000	0.03702	0.822000	0.46500	0.229000	0.17833	0.004000	0.14682	0.585000	0.79938	GCC		0.373	VPS13C-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000415997.1	NM_017684		82	140	0	0	0	0.870114	0	82	140					A	62266506	G	A	62266506	3	1	25	1	0	0	0	0	1	0	0	0	17188	1203	42	3	9014	3	VPS13C	15	62266506	Missense_Mutation	SNP	G	TCGA-CH-5753-01A-11D-1576-08	13229980	62266506	40264886	50	1116											
ACAN	176	broad.mit.edu	37	chr15	89386657	89386657	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ccaatgagtgccggcggctgGgtgcccggctggccaccacg	5	5	16	15	4	0	1	0	1	0	0	0	1	0	1	5	5	2	2	5	5	1	0			TCGA-CH-5753-01A-11D-1576-08	TCGA-CH-5753-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05a8fbba-61ac-42a4-b375-87f3a671446b	c1987c4d-84f8-4464-93ad-7e53fd4a6a11	g.chr15:89386657G>A	ENST00000561243.1	+	5	829	c.829G>A	c.(829-831)Ggt>Agt	p.G277S	ACAN_ENST00000352105.7_Missense_Mutation_p.G277S|ACAN_ENST00000439576.2_Missense_Mutation_p.G277S|ACAN_ENST00000559004.1_Missense_Mutation_p.G277S|ACAN_ENST00000558207.1_Missense_Mutation_p.G277S			P16112	PGCA_HUMAN	aggrecan	277	G1-B'.|Link 2. {ECO:0000255|PROSITE- ProRule:PRU00323}.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)	carbohydrate binding (GO:0030246)|extracellular matrix structural constituent (GO:0005201)|hyaluronic acid binding (GO:0005540)|metal ion binding (GO:0046872)	p.G277S(2)		NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			CCGGCGGCTGGGTGCCCGGCT	0.647																																						ENST00000439576.2																			2	Substitution - Missense(2)	p.G277S(2)	prostate(2)	NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93						c.(829-831)Ggt>Agt		aggrecan							16	20	19					15																	89386657		1946	4138	6084	SO:0001583	missense	176				cell adhesion		hyaluronic acid binding|sugar binding	g.chr15:89386657G>A	M55172	CCDS53970.1, CCDS53971.1	15q26.1	2013-05-07	2007-02-16	2007-02-16	ENSG00000157766	ENSG00000157766		"Immunoglobulin superfamily / V-set domain containing", "Proteoglycans / Extracellular Matrix : Hyalectans"	319	protein-coding gene	gene with protein product	"aggrecan proteoglycan"	155760	"chondroitin sulfate proteoglycan 1", "aggrecan 1"	MSK16, CSPG1, AGC1		1985970	Standard	NM_013227		Approved	CSPGCP	uc010upo.1	P16112	OTTHUMG00000171989	ENST00000561243.1:c.829G>A	15.37:g.89386657G>A	ENSP00000453342:p.Gly277Ser					ACAN_ENST00000559004.1_Missense_Mutation_p.G277S|ACAN_ENST00000352105.7_Missense_Mutation_p.G277S|ACAN_ENST00000558207.1_Missense_Mutation_p.G277S|ACAN_ENST00000561243.1_Missense_Mutation_p.G277S	p.G277S	NM_013227.3	NP_037359.3	E7EX88	E7EX88_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.146)		6	1203	+	Lung NSC(78;0.0392)|all_lung(78;0.077)		277					Q13650|Q9UCD3|Q9UCP4|Q9UCP5|Q9UDE0	Missense_Mutation	SNP	ENST00000561243.1	37	c.829G>A	CCDS53970.1	.	.	.	.	.	.	.	.	.	.	G	26.2	4.716677	0.89205	.	.	ENSG00000157766	ENST00000439576;ENST00000352105;ENST00000268134	T;T	0.15256	2.44;2.44	5.56	5.56	0.83823	.	0.000000	0.33253	N	0.005114	T	0.44222	0.1283	M	0.71036	2.16	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;0.999	T	0.31971	-0.9924	10	0.72032	D	0.01	-24.2727	18.5257	0.90971	0.0:0.0:1.0:0.0	.	277;277;277	E7ENV9;E7EX88;Q6PID9	.;.;.	S	277	ENSP00000387356:G277S;ENSP00000341615:G277S	ENSP00000268134:G277S	G	+	1	0	ACAN	87187661	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	9.684000	0.98659	2.626000	0.88956	0.650000	0.86243	GGT		0.647	ACAN-006	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416267.2	NM_001135		6	13	0	0	0	0.335167	0	6	13					A	89386657	G	A	89386657	3	1	25	1	0	0	0	0	1	0	0	0	117	1232	43	3	847	3	ACAN	15	89386657	Missense_Mutation	SNP	G	TCGA-CH-5753-01A-11D-1576-08	27120151	89386657	13144735	51	1117											
MSLN	10232	broad.mit.edu	37	chr16	818698	818698	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacctggacctgttctcaccGtcctggcactgctcctagcc	5	10	9	17	1	1	0	1	0	1	0	4	2	3	1	6	2	2	3	6	2	1	2	rs74953641	byFrequency	TCGA-CH-5753-01A-11D-1576-08	TCGA-CH-5753-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05a8fbba-61ac-42a4-b375-87f3a671446b	c1987c4d-84f8-4464-93ad-7e53fd4a6a11	g.chr16:818698G>A	ENST00000382862.3	+	17	1953	c.1858G>A	c.(1858-1860)Gtc>Atc	p.V620I	MSLN_ENST00000563941.1_Missense_Mutation_p.V612I|MSLN_ENST00000545450.2_Missense_Mutation_p.V612I|MIR662_ENST00000384847.1_RNA|MSLN_ENST00000566549.1_Missense_Mutation_p.V612I	NM_013404.4	NP_037536.2	Q13421	MSLN_HUMAN	mesothelin	620					cell adhesion (GO:0007155)|pancreas development (GO:0031016)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|plasma membrane (GO:0005886)		p.V620I(2)		breast(2)|kidney(2)|lung(11)|pancreas(1)|prostate(1)|skin(3)	20		Hepatocellular(780;0.00335)				TGTTCTCACCGTCCTGGCACT	0.701													G|||	12	0.00239617	0.0015	0	5008	,	,		14249	0.0089		0.001	False		,,,				2504	0					ENST00000566549.1																			2	Substitution - Missense(2)	p.V620I(2)	prostate(2)	breast(2)|kidney(2)|lung(11)|pancreas(1)|prostate(1)|skin(3)	20						c.(1834-1836)Gtc>Atc		mesothelin		G	ILE/VAL,ILE/VAL,ILE/VAL	2,4386	4.2+/-10.8	0,2,2192	72	61	64		1858,1834,1834	0.7	0	16	dbSNP_131	64	2,8584	2.2+/-6.3	0,2,4291	yes	missense,missense,missense	MSLN	NM_013404.4,NM_005823.5,NM_001177355.1	29,29,29	0,4,6483	AA,AG,GG		0.0233,0.0456,0.0308	benign,benign,benign	620/631,612/623,612/623	818698	4,12970	2194	4293	6487	SO:0001583	missense	10232				cell adhesion	anchored to membrane|extracellular region|Golgi apparatus|plasma membrane		g.chr16:818698G>A	U40434	CCDS32356.1, CCDS45370.1	16p13.3	2008-04-16			ENSG00000102854	ENSG00000102854			7371	protein-coding gene	gene with protein product		601051				7665620, 8552591	Standard	NM_005823		Approved	CAK1, MPF	uc002cjw.2	Q13421	OTTHUMG00000047992	ENST00000382862.3:c.1858G>A	16.37:g.818698G>A	ENSP00000372313:p.Val620Ile					MSLN_ENST00000545450.2_Missense_Mutation_p.V612I|MSLN_ENST00000563941.1_Missense_Mutation_p.V612I|MSLN_ENST00000382862.3_Missense_Mutation_p.V620I	p.V612I			Q13421	MSLN_HUMAN			17	2251	+		Hepatocellular(780;0.00335)	620					D3DU65|Q14859|Q4VQD5|Q96GR6|Q96KJ5|Q9BR17|Q9BTR2|Q9UCB2|Q9UK57	Missense_Mutation	SNP	ENST00000382862.3	37	c.1834G>A	CCDS32356.1	2	9.157509157509158E-4	0	0.0	0	0.0	1	0.0017482517482517483	1	0.0013192612137203166	G	1.526	-0.545577	0.04024	4.56E-4	2.33E-4	ENSG00000102854	ENST00000446427;ENST00000445361;ENST00000545450;ENST00000382862	T;T	0.10860	2.83;2.83	2.84	0.725	0.18242	.	3.095740	0.01919	N	0.040412	T	0.03178	0.0093	N	0.02142	-0.665	0.09310	N	1	B;B;B	0.31026	0.259;0.304;0.259	B;B;B	0.17722	0.011;0.019;0.011	T	0.29941	-0.9995	10	0.07813	T	0.8	.	3.0745	0.06242	0.1628:0.0:0.4838:0.3534	.	611;620;612	Q13421-4;Q13421;Q13421-3	.;MSLN_HUMAN;.	I	620;612;612;620	ENSP00000442965:V612I;ENSP00000372313:V620I	ENSP00000372313:V620I	V	+	1	0	MSLN	758699	0.000000	0.05858	0.000000	0.03702	0.025000	0.11179	-0.535000	0.06142	0.194000	0.20326	0.407000	0.27541	GTC		0.701	MSLN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000109253.2			5	96	0	0	0	0.184627	0	5	96					A	818698	G	A	818698	3	1	25	1	0	0	0	0	1	0	0	0	9881	1145	40	1	1920	1	MSLN	16	818698	Missense_Mutation	SNP	G	TCGA-CH-5753-01A-11D-1576-08		818698	89536055	52	1118											
TCEB2	6923	broad.mit.edu	37	chr16	2827129	2827129	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cggatcatgaggaacacgtcCtgggggcggcgggccggcgt	6	5	19	11	6	1	1	1	1	0	0	2	3	2	3	2	7	1	0	2	7	1	0			TCGA-CH-5753-01A-11D-1576-08	TCGA-CH-5753-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05a8fbba-61ac-42a4-b375-87f3a671446b	c1987c4d-84f8-4464-93ad-7e53fd4a6a11	g.chr16:2827129C>T	ENST00000409906.4	-	2	61		c.e2-1		TCEB2_ENST00000409477.1_5'UTR|TCEB2_ENST00000262306.7_Splice_Site|TCEB2_ENST00000572954.1_Splice_Site	NM_007108.3	NP_009039.1	Q15370	ELOB_HUMAN	transcription elongation factor B (SIII), polypeptide 2 (18kDa, elongin B)						cellular response to hypoxia (GO:0071456)|gene expression (GO:0010467)|positive regulation of viral transcription (GO:0050434)|protein complex assembly (GO:0006461)|protein ubiquitination (GO:0016567)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	Cul2-RING ubiquitin ligase complex (GO:0031462)|Cul5-RING ubiquitin ligase complex (GO:0031466)|cytosol (GO:0005829)|elongin complex (GO:0070449)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)	ubiquitin protein ligase binding (GO:0031625)	p.?(1)		endometrium(2)|prostate(1)	3						GGAACACGTCCTGGGGGCGGC	0.756																																					GBM(141;5215 5962)	ENST00000409906.4																			1	Unknown(1)	p.?(1)	prostate(1)	endometrium(2)|prostate(1)	3						c.e2-1		transcription elongation factor B (SIII), polypeptide 2 (18kDa, elongin B)							25	24	24					16																	2827129		2194	4296	6490	SO:0001630	splice_region_variant	6923				positive regulation of viral transcription|protein complex assembly|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction	cytosol|nucleoplasm	protein binding	g.chr16:2827129C>T	L42856	CCDS32374.1, CCDS45387.1	16p12.3	2008-02-05	2002-08-29		ENSG00000103363	ENSG00000103363			11619	protein-coding gene	gene with protein product		600787	"transcription elongation factor B (SIII), polypeptide 2 (18kD, elongin B)"			7638163	Standard	NM_007108		Approved	SIII	uc002crm.3	Q15370	OTTHUMG00000154125	ENST00000409906.4:c.4-1G>A	16.37:g.2827129C>T						TCEB2_ENST00000572954.1_Splice_Site|TCEB2_ENST00000262306.7_Splice_Site|TCEB2_ENST00000409477.1_5'UTR		NM_007108.3	NP_009039.1	Q15370	ELOB_HUMAN			2	61	-								B7WPD3	Splice_Site	SNP	ENST00000409906.4	37		CCDS45387.1	.	.	.	.	.	.	.	.	.	.	C	8.767	0.925096	0.18056	.	.	ENSG00000103363	ENST00000409906;ENST00000262306	.	.	.	3.81	2.82	0.32997	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.7367	0.34532	0.227:0.773:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TCEB2	2767130	1.000000	0.71417	0.911000	0.35937	0.741000	0.42261	5.669000	0.68081	0.686000	0.31488	0.460000	0.39030	.		0.756	TCEB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333975.2	NM_007108	Intron	7	10	0	0	0	0.335167	0	7	10					T	2827129	C	T	2827129	5	4	25	1	0	0	0	0	0	0	1	0	15677	695	24	3	502	3	TCEB2	16	2827129	Splice_Site	SNP	C	TCGA-CH-5753-01A-11D-1576-08	2008431	2827129	87527624	53	1119											
ZNF213	7760	broad.mit.edu	37	chr16	3190970	3190970	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tggggctcggacctggcgcgGcaccagcgcacgcacacggg	6	3	17	15	6	0	0	0	0	0	0	1	1	0	1	2	6	1	4	2	6	0	0			TCGA-CH-5753-01A-11D-1576-08	TCGA-CH-5753-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05a8fbba-61ac-42a4-b375-87f3a671446b	c1987c4d-84f8-4464-93ad-7e53fd4a6a11	g.chr16:3190970G>A	ENST00000396878.3	+	6	1477	c.1002G>A	c.(1000-1002)cgG>cgA	p.R334R	ZNF213_ENST00000574902.1_Silent_p.R334R|ZNF213_ENST00000416391.2_Silent_p.R176R|ZNF213_ENST00000576416.1_Silent_p.R334R	NM_001134655.1|NM_004220.2	NP_001128127.1|NP_004211.1	O14771	ZN213_HUMAN	zinc finger protein 213	334					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R334R(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	16						ACCTGGCGCGGCACCAGCGCA	0.697																																						ENST00000396878.3																			1	Substitution - coding silent(1)	p.R334R(1)	prostate(1)	haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	16						c.(1000-1002)cgG>cgA		zinc finger protein 213							17	18	18					16																	3190970		2195	4296	6491	SO:0001819	synonymous_variant	7760				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr16:3190970G>A	AF017433	CCDS10495.1	16p13.3	2014-05-13	2007-02-20	2007-02-20	ENSG00000085644	ENSG00000085644		"Zinc fingers, C2H2-type", "-", "-", "-"	13005	protein-coding gene	gene with protein product		608387				9653642, 10023065	Standard	NM_004220		Approved	CR53, ZKSCAN21, ZSCAN53	uc010uws.2	O14771	OTTHUMG00000177519	ENST00000396878.3:c.1002G>A	16.37:g.3190970G>A						ZNF213_ENST00000574902.1_Silent_p.R334R|ZNF213_ENST00000416391.2_Silent_p.R176R|ZNF213_ENST00000576416.1_Silent_p.R334R	p.R334R	NM_001134655.1|NM_004220.2	NP_001128127.1|NP_004211.1	O14771	ZN213_HUMAN			6	1477	+			334					A8K1B9|B4DMG6|Q96IS1	Silent	SNP	ENST00000396878.3	37	c.1002G>A	CCDS10495.1																																																																																				0.697	ZNF213-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437334.1	NM_004220		3	20	0	0	0	0.115264	0	3	20					A	3190970	G	A	3190970	2	1	25	1	0	0	0	0	0	0	0	1	17766	1190	42	3		3	ZNF213	16	3190970	Silent	SNP	G	TCGA-CH-5753-01A-11D-1576-08	363841	3190970	87163783	54	1120											
ABCC12	94160	broad.mit.edu	37	chr16	48121966	48121966	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cactggctggctccaccagaCgaaacaaagccattcctaac	13	6	7	15	1	0	1	0	0	0	1	2	2	2	1	4	2	3	2	4	2	3	2	rs200272726		TCGA-CH-5753-01A-11D-1576-08	TCGA-CH-5753-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05a8fbba-61ac-42a4-b375-87f3a671446b	c1987c4d-84f8-4464-93ad-7e53fd4a6a11	g.chr16:48121966C>T	ENST00000311303.3	-	25	3851	c.3506G>A	c.(3505-3507)cGt>cAt	p.R1169H	ABCC12_ENST00000416054.1_3'UTR|ABCC12_ENST00000448542.1_3'UTR|ABCC12_ENST00000532355.1_5'Flank	NM_033226.2	NP_150229.2	Q96J65	MRP9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 12	1169	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.					integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)	p.R1169H(1)		NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1)	90		all_cancers(37;0.0474)|all_lung(18;0.047)				CTCCACCAGACGAAACAAAGC	0.433													C|||	1	0.000199681	0	0	5008	,	,		21404	0		0	False		,,,				2504	0.001					ENST00000311303.3																			1	Substitution - Missense(1)	p.R1169H(1)	prostate(1)	NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1)	90						c.(3505-3507)cGt>cAt		ATP-binding cassette, sub-family C (CFTR/MRP), member 12							65	56	59					16																	48121966		2201	4300	6501	SO:0001583	missense	94160					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr16:48121966C>T	AY040220	CCDS10730.1	16q12.1	2012-03-14			ENSG00000140798	ENSG00000140798		"ATP binding cassette transporters / subfamily C"	14640	protein-coding gene	gene with protein product		607041				11435397, 11483364	Standard	NM_033226		Approved	MRP9	uc002efc.1	Q96J65	OTTHUMG00000133143	ENST00000311303.3:c.3506G>A	16.37:g.48121966C>T	ENSP00000311030:p.Arg1169His					ABCC12_ENST00000416054.1_3'UTR|ABCC12_ENST00000448542.1_3'UTR	p.R1169H	NM_033226.2	NP_150229.2	Q96J65	MRP9_HUMAN			25	3851	-		all_cancers(37;0.0474)|all_lung(18;0.047)	1169			ABC transporter 2.		Q49AL2|Q8TAF0|Q8TEY2	Missense_Mutation	SNP	ENST00000311303.3	37	c.3506G>A	CCDS10730.1	.	.	.	.	.	.	.	.	.	.	C	19.76	3.886991	0.72410	.	.	ENSG00000140798	ENST00000311303	D	0.92249	-3.0	5.93	3.99	0.46301	ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.000000	0.85682	D	0.000000	D	0.96306	0.8795	M	0.89785	3.06	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96138	0.9098	10	0.87932	D	0	.	11.7432	0.51804	0.0:0.8555:0.0:0.1445	.	1169	Q96J65	MRP9_HUMAN	H	1169	ENSP00000311030:R1169H	ENSP00000311030:R1169H	R	-	2	0	ABCC12	46679467	0.998000	0.40836	0.942000	0.38095	0.539000	0.34962	3.785000	0.55424	0.852000	0.35287	-0.137000	0.14449	CGT		0.433	ABCC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256837.1	NM_033226		27	32	0	0	0	0.706142	0	27	32					T	48121966	C	T	48121966	3	4	25	1	0	0	0	0	1	0	0	0	52	536	19	1	593	1	ABCC12	16	48121966	Missense_Mutation	SNP	C	TCGA-CH-5753-01A-11D-1576-08	44930996	48121966	42232787	55	1121											
IGF2BP1	10642	broad.mit.edu	37	chr17	47121400	47121400	+	Frame_Shift_Del	DEL	G	G	-																															ggcgccatcatcggcaagaaGgggcagcacatcaaacagct																										TCGA-CH-5753-01A-11D-1576-08	TCGA-CH-5753-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05a8fbba-61ac-42a4-b375-87f3a671446b	c1987c4d-84f8-4464-93ad-7e53fd4a6a11	g.chr17:47121400delG	ENST00000290341.3	+	11	1606	c.1272delG	c.(1270-1272)aagfs	p.K424fs	IGF2BP1_ENST00000431824.2_Frame_Shift_Del_p.K285fs	NM_006546.3	NP_006537.3	Q9NZI8	IF2B1_HUMAN	insulin-like growth factor 2 mRNA binding protein 1	424	KH 3. {ECO:0000255|PROSITE- ProRule:PRU00117}.|Necessary for interaction with ELAVL4 and binding to TAU mRNA. {ECO:0000250}.				CRD-mediated mRNA stabilization (GO:0070934)|gene expression (GO:0010467)|mRNA transport (GO:0051028)|negative regulation of translation (GO:0017148)|regulation of cytokine biosynthetic process (GO:0042035)|regulation of mRNA stability involved in response to stress (GO:0010610)	CRD-mediated mRNA stability complex (GO:0070937)|cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|dendrite (GO:0030425)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	mRNA 3'-UTR binding (GO:0003730)|mRNA 5'-UTR binding (GO:0048027)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|translation regulator activity (GO:0045182)			breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						TCGGCAAGAAGGGGCAGCACA	0.597																																					Esophageal Squamous(198;1041 2123 8248 37119 38268)	ENST00000290341.3																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						c.(1270-1272)aafs		insulin-like growth factor 2 mRNA binding protein 1							108	98	101					17																	47121400		2203	4300	6503	SO:0001589	frameshift_variant	10642				CRD-mediated mRNA stabilization|negative regulation of translation|regulation of mRNA stability involved in response to stress	CRD-mediated mRNA stability complex|cytosol|dendritic spine|lamellipodium|nucleus|plasma membrane|stress granule	mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity	g.chr17:47121400delG	AF198254	CCDS11543.1, CCDS54138.1	17q21.32	2013-02-12			ENSG00000159217	ENSG00000159217		"RNA binding motif (RRM) containing"	28866	protein-coding gene	gene with protein product	"IGF II mRNA binding protein 1"	608288				9891060, 11992722	Standard	NM_001160423		Approved	IMP-1	uc002iom.3	Q9NZI8	OTTHUMG00000161173	ENST00000290341.3:c.1272delG	17.37:g.47121400delG	ENSP00000290341:p.Lys424fs					IGF2BP1_ENST00000431824.2_Frame_Shift_Del_p.K285fs	p.K424fs	NM_006546.3	NP_006537.3	Q9NZI8	IF2B1_HUMAN			11	1606	+			424			KH 3.|Necessary for interaction with ELAVL4 and binding to TAU mRNA (By similarity).		C9JT33	Frame_Shift_Del	DEL	ENST00000290341.3	37	c.1272delG	CCDS11543.1																																																																																				0.597	IGF2BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364046.1	NM_006546		55	153						55	153	---	---	---	---	-	47121400	G	-	47121400	7	5	25	1	0	1	0	1	0	0	0	0	7573	991	35	0	1314	0	IGF2BP1	17	47121400	Frame_Shift_Del	DEL	G	TCGA-CH-5753-01A-11D-1576-08		47121400	34073810	56	1122											
TLK2	11011	broad.mit.edu	37	chr17	60654069	60654069	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acttttaccactgtttttcaGgttaacgttagcagaatacc	11	15	6	9	1	1	1	1	0	0	1	1	1	1	1	2	1	4	4	2	1	5	7			TCGA-CH-5753-01A-11D-1576-08	TCGA-CH-5753-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05a8fbba-61ac-42a4-b375-87f3a671446b	c1987c4d-84f8-4464-93ad-7e53fd4a6a11	g.chr17:60654069G>A	ENST00000326270.9	+	14	1455		c.e14-1		TLK2_ENST00000542523.1_Splice_Site|TLK2_ENST00000582809.1_Splice_Site|TLK2_ENST00000346027.5_Splice_Site|TLK2_ENST00000343388.7_Splice_Site	NM_001284333.1	NP_001271262.1	Q86UE8	TLK2_HUMAN	tousled-like kinase 2						cell cycle (GO:0007049)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|chromatin modification (GO:0016568)|chromosome segregation (GO:0007059)|intracellular signal transduction (GO:0035556)|negative regulation of autophagy (GO:0010507)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|peptidyl-serine phosphorylation (GO:0018105)|protein phosphorylation (GO:0006468)|regulation of chromatin assembly or disassembly (GO:0001672)	intermediate filament (GO:0005882)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.?(3)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(4)|large_intestine(6)|liver(2)|lung(10)|prostate(1)|stomach(1)|urinary_tract(1)	39						CTGTTTTTCAGGTTAACGTTA	0.313																																						ENST00000582809.1																			3	Unknown(3)	p.?(3)	prostate(3)	NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(4)|large_intestine(6)|liver(2)|lung(10)|prostate(1)|stomach(1)|urinary_tract(1)	39						c.e14-1		tousled-like kinase 2							103	100	101					17																	60654069		2203	4300	6503	SO:0001630	splice_region_variant	11011				cell cycle|chromatin modification|intracellular signal transduction|regulation of chromatin assembly or disassembly|response to DNA damage stimulus	nucleus	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr17:60654069G>A	AB004884	CCDS11633.1, CCDS45753.1, CCDS62283.1	17q23	2008-07-18							11842	protein-coding gene	gene with protein product		608439				9427565, 10523312	Standard	NM_006852		Approved	PKU-ALPHA, MGC44450	uc002izz.4	Q86UE8		ENST00000326270.9:c.1188-1G>A	17.37:g.60654069G>A						TLK2_ENST00000326270.9_Splice_Site|TLK2_ENST00000346027.5_Splice_Site|TLK2_ENST00000343388.7_Splice_Site|TLK2_ENST00000542523.1_Splice_Site				Q86UE8	TLK2_HUMAN			14	1377	+								D3DU07|Q9UKI7|Q9Y4F7	Splice_Site	SNP	ENST00000326270.9	37			.	.	.	.	.	.	.	.	.	.	G	24.9	4.580501	0.86645	.	.	ENSG00000146872	ENST00000346027;ENST00000343388;ENST00000326270;ENST00000542523	.	.	.	5.69	5.69	0.88448	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.2282	0.93825	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	TLK2	58007801	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	9.813000	0.99286	2.857000	0.98124	0.650000	0.86243	.		0.313	TLK2-004	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000445140.1	NM_006852	Intron	9	271	0	0	0	0.38729	0	9	271					A	60654069	G	A	60654069	5	1	25	1	0	0	0	0	0	0	1	0	15941	1014	35	3	1167	3	TLK2	17	60654069	Splice_Site	SNP	G	TCGA-CH-5753-01A-11D-1576-08	13532669	60654069	20541141	57	1123											
NDC80	10403	broad.mit.edu	37	chr18	2610828	2610828	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ataacttgcaacgtctgttaGagatggttgctacacatgtt	11	14	9	7	1	1	1	0	0	1	1	1	2	1	1	0	1	5	5	0	1	4	6			TCGA-CH-5753-01A-11D-1576-08	TCGA-CH-5753-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05a8fbba-61ac-42a4-b375-87f3a671446b	c1987c4d-84f8-4464-93ad-7e53fd4a6a11	g.chr18:2610828G>A	ENST00000261597.4	+	16	1941	c.1759G>A	c.(1759-1761)Gag>Aag	p.E587K		NM_006101.2	NP_006092.1	O14777	NDC80_HUMAN	NDC80 kinetochore complex component	587	Interaction with NEK2 and ZWINT.|Interaction with the C-terminus of CDCA1 and the SPBC24-SPBC25 subcomplex.				attachment of spindle microtubules to kinetochore (GO:0008608)|chromosome segregation (GO:0007059)|establishment of mitotic spindle orientation (GO:0000132)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic sister chromatid segregation (GO:0000070)|mitotic spindle organization (GO:0007052)	chromosome, centromeric region (GO:0000775)|condensed chromosome kinetochore (GO:0000777)|condensed nuclear chromosome outer kinetochore (GO:0000942)|cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)|Ndc80 complex (GO:0031262)|nucleus (GO:0005634)		p.E587K(1)		NS(1)|biliary_tract(2)|breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(2)|urinary_tract(2)	22						ACGTCTGTTAGAGATGGTTGC	0.373																																						ENST00000261597.4																			1	Substitution - Missense(1)	p.E587K(1)	prostate(1)	NS(1)|biliary_tract(2)|breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(2)|urinary_tract(2)	22						c.(1759-1761)Gag>Aag		NDC80 kinetochore complex component							173	153	160					18																	2610828		2203	4300	6503	SO:0001583	missense	10403				attachment of spindle microtubules to kinetochore|cell division|establishment of mitotic spindle orientation|mitotic prometaphase|mitotic sister chromatid segregation|mitotic spindle organization|phosphatidylinositol-mediated signaling	condensed nuclear chromosome outer kinetochore|cytosol|Ndc80 complex	protein binding	g.chr18:2610828G>A	AF017790	CCDS11827.1	18p11.31	2013-01-17	2013-01-17	2007-03-02	ENSG00000080986	ENSG00000080986			16909	protein-coding gene	gene with protein product		607272	"highly expressed in cancer, rich in leucine heptad repeats (yeast)", "kinetochore associated 2", "NDC80 kinetochore complex component homolog (S. cerevisiae)"	KNTC2		9315664, 12351790	Standard	NM_006101		Approved	HEC, HEC1, hsNDC80, TID3	uc002kli.3	O14777	OTTHUMG00000131483	ENST00000261597.4:c.1759G>A	18.37:g.2610828G>A	ENSP00000261597:p.Glu587Lys						p.E587K	NM_006101.2	NP_006092.1	O14777	NDC80_HUMAN			16	1941	+			587			Interaction with NEK2 and ZWINT.|Interaction with the C-terminus of CDCA1 and the SPBC24-SPBC25 subcomplex.		Q6PJX2	Missense_Mutation	SNP	ENST00000261597.4	37	c.1759G>A	CCDS11827.1	.	.	.	.	.	.	.	.	.	.	G	12.94	2.088140	0.36855	.	.	ENSG00000080986	ENST00000261597	T	0.52754	0.65	5.43	5.43	0.79202	.	0.339475	0.35838	N	0.002954	T	0.44180	0.1281	L	0.57536	1.79	0.38399	D	0.945625	B	0.27229	0.172	B	0.21917	0.037	T	0.42344	-0.9457	10	0.35671	T	0.21	-14.3161	13.7218	0.62732	0.0:0.1548:0.8452:0.0	.	587	O14777	NDC80_HUMAN	K	587	ENSP00000261597:E587K	ENSP00000261597:E587K	E	+	1	0	NDC80	2600828	1.000000	0.71417	1.000000	0.80357	0.792000	0.44763	4.210000	0.58500	2.547000	0.85894	0.650000	0.86243	GAG		0.373	NDC80-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254327.1	NM_006101		14	255	0	0	0	0.435327	0	14	255					A	2610828	G	A	2610828	3	1	25	1	0	0	0	0	1	0	0	0	10242	943	33	3	1817	3	NDC80	18	2610828	Missense_Mutation	SNP	G	TCGA-CH-5753-01A-11D-1576-08		2610828	75466420	58	1124											
KIAA0802	23255	broad.mit.edu	37	chr18	8825067	8825067	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggagccacgtcctcaccgagCagtcggggttgcgcgtgtta	6	8	15	12	5	1	0	1	0	0	0	3	2	2	1	3	3	3	3	3	3	1	2			TCGA-CH-5753-01A-11D-1576-08	TCGA-CH-5753-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05a8fbba-61ac-42a4-b375-87f3a671446b	c1987c4d-84f8-4464-93ad-7e53fd4a6a11	g.chr18:8825067C>A	ENST00000306329.11	+	13	4516	c.4516C>A	c.(4516-4518)Cag>Aag	p.Q1506K	SOGA2_ENST00000518815.1_Missense_Mutation_p.Q512K|SOGA2_ENST00000359865.3_Missense_Mutation_p.Q1187K|SOGA2_ENST00000306285.7_Missense_Mutation_p.Q512K|SOGA2_ENST00000400050.3_Missense_Mutation_p.Q1146K|SOGA2_ENST00000517570.1_Missense_Mutation_p.Q1146K														p.Q1187K(1)									CCTCACCGAGCAGTCGGGGTT	0.642																																						ENST00000359865.3																			1	Substitution - Missense(1)	p.Q1187K(1)	prostate(1)								c.(3559-3561)Cag>Aag		SOGA family member 2							55	41	45					18																	8825067		2196	4291	6487	SO:0001583	missense	23255							g.chr18:8825067C>A																												ENST00000306329.11:c.4516C>A	18.37:g.8825067C>A	ENSP00000305027:p.Gln1506Lys					SOGA2_ENST00000518815.1_Missense_Mutation_p.Q512K|SOGA2_ENST00000400050.3_Missense_Mutation_p.Q1146K|SOGA2_ENST00000517570.1_Missense_Mutation_p.Q1146K|SOGA2_ENST00000306329.11_Missense_Mutation_p.Q1506K|SOGA2_ENST00000306285.7_Missense_Mutation_p.Q512K	p.Q1187K	NM_015210.3	NP_056025.2	Q9Y4B5	CC165_HUMAN			15	3701	+			1497						Missense_Mutation	SNP	ENST00000306329.11	37	c.3559C>A		.	.	.	.	.	.	.	.	.	.	C	0.928	-0.713699	0.03206	.	.	ENSG00000168502	ENST00000306329;ENST00000517570;ENST00000359865;ENST00000400050;ENST00000306285	T;T;T;T	0.23348	1.91;1.91;1.91;1.91	5.44	2.27	0.28462	.	0.586782	0.14320	N	0.327080	T	0.12561	0.0305	N	0.20685	0.6	0.09310	N	1	B;B	0.09022	0.002;0.0	B;B	0.08055	0.002;0.003	T	0.34625	-0.9821	10	0.02654	T	1	-6.8369	8.6442	0.33996	0.5929:0.3052:0.1018:0.0	.	1497;1187	Q9Y4B5;Q9Y4B5-3	CC165_HUMAN;.	K	1208;1146;1187;1146;512	ENSP00000429556:Q1146K;ENSP00000352927:Q1187K;ENSP00000382924:Q1146K;ENSP00000303670:Q512K	ENSP00000303670:Q512K	Q	+	1	0	CCDC165	8815067	0.982000	0.34865	0.818000	0.32626	0.965000	0.64279	3.558000	0.53749	0.595000	0.29777	0.650000	0.86243	CAG		0.642	SOGA2-015	PUTATIVE	basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000444141.1			17	62	1	0	7.45023e-12	0.592651	9.31278e-12	17	62					A	8825067	C	A	8825067	3	1	25	1	0	0	0	0	1	0	0	0	8194	711	25	5	3609	5	KIAA0802	18	8825067	Missense_Mutation	SNP	C	TCGA-CH-5753-01A-11D-1576-08	6214239	8825067	69252181	59	1125											
LMAN1	3998	broad.mit.edu	37	chr18	57006162	57006162	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgtcttagctctcgatctcCtacactctcaaatatttcct	8	17	3	13	1	4	0	1	0	4	0	8	1	5	0	2	0	2	1	2	0	4	5			TCGA-CH-5753-01A-11D-1576-08	TCGA-CH-5753-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05a8fbba-61ac-42a4-b375-87f3a671446b	c1987c4d-84f8-4464-93ad-7e53fd4a6a11	g.chr18:57006162C>T	ENST00000251047.5	-	9	1696	c.979G>A	c.(979-981)Gga>Aga	p.G327R		NM_005570.3	NP_005561.1	P49257	LMAN1_HUMAN	lectin, mannose-binding, 1	327					blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum organization (GO:0007029)|ER to Golgi vesicle-mediated transport (GO:0006888)|Golgi organization (GO:0007030)|positive regulation of organelle organization (GO:0010638)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)|protein transport (GO:0015031)	endoplasmic reticulum membrane (GO:0005789)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|ER to Golgi transport vesicle membrane (GO:0012507)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|sarcomere (GO:0030017)	mannose binding (GO:0005537)|metal ion binding (GO:0046872)|unfolded protein binding (GO:0051082)	p.G327R(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	16		Colorectal(73;0.0946)			Antihemophilic Factor(DB00025)	TCTCGATCTCCTACACTCTCA	0.368																																						ENST00000251047.5																			1	Substitution - Missense(1)	p.G327R(1)	prostate(1)	breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	16						c.(979-981)Gga>Aga		lectin, mannose-binding, 1	Antihemophilic Factor(DB00025)						96	92	93					18																	57006162		2203	4300	6503	SO:0001583	missense	3998				blood coagulation|ER to Golgi vesicle-mediated transport|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|protein transport	endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane	mannose binding|metal ion binding|unfolded protein binding	g.chr18:57006162C>T	X71661	CCDS11974.1	18q21.3-q22	2014-09-17	2002-08-30		ENSG00000074695	ENSG00000074695			6631	protein-coding gene	gene with protein product	"endoplasmic reticulum-golgi intermediate compartment protein 53"	601567	"coagulation factor V-factor VIII combined deficiency"	F5F8D		9546392, 8854877	Standard	NM_005570		Approved	MR60, ERGIC-53, ERGIC53, gp58, MCFD1, FMFD1	uc002lhz.3	P49257	OTTHUMG00000132758	ENST00000251047.5:c.979G>A	18.37:g.57006162C>T	ENSP00000251047:p.Gly327Arg						p.G327R	NM_005570.3	NP_005561.1	P49257	LMAN1_HUMAN			9	1696	-		Colorectal(73;0.0946)	327					Q12895|Q8N5I7|Q9UQG1|Q9UQG2|Q9UQG3|Q9UQG4|Q9UQG5|Q9UQG6|Q9UQG7|Q9UQG8|Q9UQG9|Q9UQH0|Q9UQH1|Q9UQH2	Missense_Mutation	SNP	ENST00000251047.5	37	c.979G>A	CCDS11974.1	.	.	.	.	.	.	.	.	.	.	C	17.51	3.407889	0.62399	.	.	ENSG00000074695	ENST00000251047	T	0.55052	0.54	5.67	4.58	0.56647	.	0.172900	0.64402	D	0.000008	T	0.33235	0.0856	L	0.36672	1.1	0.41059	D	0.985368	B	0.30511	0.282	B	0.26517	0.07	T	0.15122	-1.0448	10	0.13470	T	0.59	-23.7009	4.4961	0.11837	0.0:0.7054:0.0:0.2946	.	327	P49257	LMAN1_HUMAN	R	327	ENSP00000251047:G327R	ENSP00000251047:G327R	G	-	1	0	LMAN1	55157142	1.000000	0.71417	0.983000	0.44433	0.997000	0.91878	4.700000	0.61803	2.836000	0.97738	0.655000	0.94253	GGA		0.368	LMAN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256129.2	NM_005570		41	178	0	0	0	0.834066	0	41	178					T	57006162	C	T	57006162	3	4	25	1	0	0	0	0	1	0	0	0	8836	690	24	3	573	3	LMAN1	18	57006162	Missense_Mutation	SNP	C	TCGA-CH-5753-01A-11D-1576-08	48181095	57006162	21071086	60	1126											
ZNF99	7652	broad.mit.edu	37	chr19	22939861	22939861	+	IGR	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtacgatttctccctagtatGaattagcttatgtttcttaa	10	18	6	7	1	2	1	0	1	2	0	3	2	2	1	1	0	2	4	1	0	7	8			TCGA-CH-5753-01A-11D-1576-08	TCGA-CH-5753-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05a8fbba-61ac-42a4-b375-87f3a671446b	c1987c4d-84f8-4464-93ad-7e53fd4a6a11	g.chr19:22939861G>T	ENST00000596209.1	-	0	2686				ZNF99_ENST00000397104.3_Missense_Mutation_p.H824N|CTC-451A6.4_ENST00000442497.2_lincRNA	NM_001080409.2	NP_001073878.2	A8MXY4	ZNF99_HUMAN	zinc finger protein 99						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.H824N(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				TCCCTAGTATGAATTAGCTTA	0.378																																						ENST00000397104.3																			1	Substitution - Missense(1)	p.H824N(1)	prostate(1)	NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124						c.(2470-2472)Cat>Aat		zinc finger protein 99							86	97	93					19																	22939861		2071	4235	6306	SO:0001628	intergenic_variant	7652							g.chr19:22939861G>T	BC021822	CCDS59369.1	19p12	2013-01-08	2006-01-17		ENSG00000213973	ENSG00000213973		"Zinc fingers, C2H2-type", "-"	13175	protein-coding gene	gene with protein product		603981	"zinc finger protein 99 (F8281)", "chromosome 19 open reading frame 9"	C19orf9			Standard	NM_001080409		Approved	MGC24986	uc021urt.1	A8MXY4			19.37:g.22939861G>T							p.H824N							6	2469	-		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)						M0R335	Missense_Mutation	SNP	ENST00000596209.1	37	c.2470C>A	CCDS59369.1	.	.	.	.	.	.	.	.	.	.	g	13.47	2.247426	0.39697	.	.	ENSG00000213973	ENST00000397104	T	0.67345	-0.26	1.37	1.37	0.22104	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.80287	0.4595	M	0.87180	2.865	0.33622	D	0.604923	P	0.48350	0.909	D	0.66084	0.941	T	0.82936	-0.0210	9	0.87932	D	0	.	7.7725	0.29017	0.0:0.0:1.0:0.0	.	824	A8MXY4	ZNF99_HUMAN	N	824	ENSP00000380293:H824N	ENSP00000380293:H824N	H	-	1	0	ZNF99	22731701	1.000000	0.71417	0.004000	0.12327	0.056000	0.15407	6.619000	0.74219	0.729000	0.32403	0.173000	0.16961	CAT		0.378	ZNF99-001	NOVEL	not_best_in_genome_evidence|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000464591.1	XM_065124		94	132	1	0	1.43847e-43	0.870114	1.94079e-43	94	132					T	22939861	G	T	22939861	1	4	25	0	1	0	0	0	0	0	0	0	18201	1290	45	5		5	ZNF99	19	22939861	IGR	SNP	G	TCGA-CH-5753-01A-11D-1576-08		22939861	36189122	61	1127											
ATRN	8455	broad.mit.edu	37	chr20	3557613	3557614	+	In_Frame_Ins	INS	-	-	CCC																															accagaactgccagtgggagINSccccggaatcaggagtgcat																								rs544568409		TCGA-CH-5753-01A-11D-1576-08	TCGA-CH-5753-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05a8fbba-61ac-42a4-b375-87f3a671446b	c1987c4d-84f8-4464-93ad-7e53fd4a6a11	g.chr20:3557613_3557614insCCC	ENST00000262919.5	+	14	2390_2391	c.2322_2323insCCC	c.(2323-2325)ccc>CCCccc	p.775_775P>PP	ATRN_ENST00000446916.2_In_Frame_Ins_p.775_775P>PP	NM_139321.2	NP_647537.1	O75882	ATRN_HUMAN	attractin	775	PSI 2.				cerebellum development (GO:0021549)|inflammatory response (GO:0006954)|myelination (GO:0042552)|pigmentation (GO:0043473)|regulation of multicellular organism growth (GO:0040014)|response to oxidative stress (GO:0006979)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)			breast(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	59						GCCAGTGGGAGCCCCGGAATCA	0.55																																						ENST00000262919.5																			0				breast(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	59						c.(2320-2325)gacccg>gaCCCcccg		attractin																																				SO:0001652	inframe_insertion	8455				inflammatory response	extracellular space|integral to plasma membrane	receptor activity|sugar binding	g.chr20:3557613_3557614insCCC	AF034957	CCDS13053.1, CCDS13054.1	20p13	2008-07-02			ENSG00000088812	ENSG00000088812			885	protein-coding gene	gene with protein product	"mahogany protein"	603130				9736737, 8596018	Standard	NM_139321		Approved	DPPT-L, MGCA	uc002wim.2	O75882	OTTHUMG00000031746	ENST00000262919.5:c.2323_2325dupCCC	20.37:g.3557614_3557616dupCCC	ENSP00000262919:p.Pro775dup					ATRN_ENST00000446916.2_In_Frame_Ins_p.775_776insP	p.775_776insP	NM_139321.2	NP_647537.1	O75882	ATRN_HUMAN			14	2390_2391	+			775			PSI 2.		A8KAE5|O60295|O95414|Q3MIT3|Q5TDA2|Q5TDA4|Q5VYW3|Q9NTQ3|Q9NTQ4|Q9NU01|Q9NZ57|Q9NZ58|Q9UC75|Q9UDF5	In_Frame_Ins	INS	ENST00000262919.5	37	c.2322_2323insCCC	CCDS13053.1																																																																																				0.55	ATRN-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000077740.2	NM_139321		14	226						14	226	---	---	---	---	CCC	3557614	-	CCC	3557613	7	5	25	1	0	1	1	0	0	0	0	0	1206	962	34	0	2376	0	ATRN	20	3557613	In_Frame_Ins	INS	-	TCGA-CH-5753-01A-11D-1576-08		3557613	59467907	62	1128											
C20orf165	128497	broad.mit.edu	37	chr20	44515342	44515342	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgaactcctgggacgggcacGgtggggatgccagcgatcat	8	6	16	11	4	1	0	1	0	0	0	2	4	2	2	2	5	3	1	2	5	1	0			TCGA-CH-5753-01A-11D-1576-08	TCGA-CH-5753-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05a8fbba-61ac-42a4-b375-87f3a671446b	c1987c4d-84f8-4464-93ad-7e53fd4a6a11	g.chr20:44515342G>A	ENST00000372519.3	-	2	542	c.498C>T	c.(496-498)acC>acT	p.T166T		NM_080608.3	NP_542175.1	Q9BR10	SPT25_HUMAN	spermatogenesis associated 25	166					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)		p.T166T(1)									GGACGGGCACGGTGGGGATGC	0.642																																						ENST00000372519.3																			1	Substitution - coding silent(1)	p.T166T(1)	prostate(1)								c.(496-498)acC>acT		spermatogenesis associated 25							66	66	66					20																	44515342		2203	4300	6503	SO:0001819	synonymous_variant	128497					integral to membrane		g.chr20:44515342G>A	AL008726	CCDS13383.1	20q13.12	2011-11-24	2011-11-24	2011-11-24	ENSG00000149634	ENSG00000149634			16158	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 165"	C20orf165		19240080	Standard	NM_080608		Approved	dJ337O18.8, TSG23	uc002xqf.3	Q9BR10	OTTHUMG00000032628	ENST00000372519.3:c.498C>T	20.37:g.44515342G>A							p.T166T	NM_080608.3	NP_542175.1	Q9BR10	CT165_HUMAN			2	542	-			166						Silent	SNP	ENST00000372519.3	37	c.498C>T	CCDS13383.1																																																																																				0.642	SPATA25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079541.1			56	89	0	0	0	0.870114	0	56	89					A	44515342	G	A	44515342	2	1	25	1	0	0	0	0	0	0	0	1	2094	1103	39	2		2	C20orf165	20	44515342	Silent	SNP	G	TCGA-CH-5753-01A-11D-1576-08	40957729	44515342	18510178	63	1129											
SMARCB1	6598	broad.mit.edu	37	chr22	24145587	24145587	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgggcagaagctgcgagaCgccttcacctggaacatgaa	12	6	13	10	2	1	3	1	1	0	2	1	6	1	4	2	2	3	2	2	2	3	1			TCGA-CH-5753-01A-11D-1576-08	TCGA-CH-5753-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05a8fbba-61ac-42a4-b375-87f3a671446b	c1987c4d-84f8-4464-93ad-7e53fd4a6a11	g.chr22:24145587C>A	ENST00000263121.7	+	5	802	c.606C>A	c.(604-606)gaC>gaA	p.D202E	SMARCB1_ENST00000344921.6_Missense_Mutation_p.D211E|SMARCB1_ENST00000407422.3_Missense_Mutation_p.D193E|SMARCB1_ENST00000407082.3_Missense_Mutation_p.D156E	NM_003073.3	NP_003064.2	Q12824	SNF5_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1	202	2 X approximate tandem repeats.|HIV-1 integrase-binding.|MYC-binding.				ATP-dependent chromatin remodeling (GO:0043044)|blastocyst hatching (GO:0001835)|cell differentiation (GO:0030154)|chromatin remodeling (GO:0006338)|DNA integration (GO:0015074)|DNA repair (GO:0006281)|mitotic cell cycle phase transition (GO:0044772)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|nucleosome disassembly (GO:0006337)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|single stranded viral RNA replication via double stranded DNA intermediate (GO:0039692)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)|XY body (GO:0001741)	p53 binding (GO:0002039)|Tat protein binding (GO:0030957)|transcription coactivator activity (GO:0003713)	p.?(6)|p.D211E(1)|p.D202E(1)|p.A203fs*13(1)		bone(4)|central_nervous_system(198)|endometrium(4)|haematopoietic_and_lymphoid_tissue(25)|kidney(3)|large_intestine(5)|liver(2)|lung(5)|meninges(5)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|soft_tissue(194)	458		Medulloblastoma(6;2.2e-09)|all_neural(6;2.73e-05)				AGCTGCGAGACGCCTTCACCT	0.602			"D, N, F, S"		malignant rhabdoid	malignant rhabdoid																																ENST00000344921.6			yes	Rec	yes	Rhabdoid predisposition syndrome	22	22q11	6598	"D, N, F, S"	"SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1"			M		malignant rhabdoid	malignant rhabdoid		9	Unknown(3)|Deletion - Frameshift(3)|Substitution - Missense(2)|Insertion - Frameshift(1)	p.?(6)|p.D211E(1)|p.D202E(1)|p.A203fs*13(1)	soft_tissue(5)|prostate(2)|central_nervous_system(2)	bone(4)|central_nervous_system(198)|endometrium(4)|haematopoietic_and_lymphoid_tissue(25)|kidney(3)|large_intestine(5)|liver(2)|lung(5)|meninges(5)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|soft_tissue(194)	458						c.(631-633)gaC>gaA		SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1							90	80	84					22																	24145587		2203	4300	6503	SO:0001583	missense	6598				cell cycle|chromatin remodeling|DNA integration|interspecies interaction between organisms|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|retroviral genome replication|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleolus|nucleoplasm|SWI/SNF complex	p53 binding	g.chr22:24145587C>A	U04847	CCDS13817.1, CCDS46671.1	22q11.23	2014-09-17			ENSG00000099956	ENSG00000099956			11103	protein-coding gene	gene with protein product	"sucrose nonfermenting, yeast, homolog-like 1", "integrase interactor 1", "malignant rhabdoid tumor suppressor", "protein phosphatase 1, regulatory subunit 144"	601607		SNF5L1		7801128, 10319872, 10365963	Standard	NM_003073		Approved	BAF47, Ini1, Snr1, hSNFS, Sfh1p, RDT, PPP1R144	uc002zyb.3	Q12824	OTTHUMG00000150737	ENST00000263121.7:c.606C>A	22.37:g.24145587C>A	ENSP00000263121:p.Asp202Glu					SMARCB1_ENST00000407082.3_Missense_Mutation_p.D156E|SMARCB1_ENST00000407422.3_Missense_Mutation_p.D193E|SMARCB1_ENST00000263121.7_Missense_Mutation_p.D202E	p.D211E			Q12824	SNF5_HUMAN			5	840	+		Medulloblastoma(6;2.2e-09)|all_neural(6;2.73e-05)	202			2 X approximate tandem repeats.|HIV-1 integrase-binding.|MYC-binding.		O75784|O95474|Q17S11|Q38GA1|Q76N08|Q9UBH2	Missense_Mutation	SNP	ENST00000263121.7	37	c.633C>A	CCDS13817.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.080470	0.76528	.	.	ENSG00000099956	ENST00000417137;ENST00000344921;ENST00000263121;ENST00000407422;ENST00000407082	D;D;D;D;D	0.92149	-2.98;-2.98;-2.98;-2.98;-2.98	4.91	-8.9	0.00782	.	0.000000	0.85682	D	0.000000	D	0.96632	0.8901	H	0.97465	4.01	0.53005	D	0.999968	P;D;P	0.53885	0.944;0.963;0.882	P;D;P	0.77557	0.817;0.99;0.907	D	0.96513	0.9380	10	0.87932	D	0	-28.9937	16.9294	0.86186	0.0:0.4135:0.0:0.5865	.	211;193;202	G5E975;Q17S11;Q12824	.;.;SNF5_HUMAN	E	220;211;202;193;156	ENSP00000388489:D220E;ENSP00000340883:D211E;ENSP00000263121:D202E;ENSP00000383984:D193E;ENSP00000385226:D156E	ENSP00000263121:D202E	D	+	3	2	SMARCB1	22475587	0.000000	0.05858	0.665000	0.29768	0.971000	0.66376	-2.489000	0.00976	-1.922000	0.01067	-1.046000	0.02355	GAC		0.602	SMARCB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319872.1	NM_003073		3	56	1	0	0.115264	0.115264	0.119481	3	56					A	24145587	C	A	24145587	3	1	25	1	0	0	0	0	1	0	0	0	14774	535	19	5	624	5	SMARCB1	22	24145587	Missense_Mutation	SNP	C	TCGA-CH-5753-01A-11D-1576-08		24145587	27158979	64	1130											
BRD1	23774	broad.mit.edu	37	chr22	50198006	50198006	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cctgattcgcaatcctatttAacctaaaacacaaacactca	16	10	2	13	1	1	1	1	1	0	0	3	1	2	1	3	0	3	1	3	0	6	5			TCGA-CH-5753-01A-11D-1576-08	TCGA-CH-5753-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05a8fbba-61ac-42a4-b375-87f3a671446b	c1987c4d-84f8-4464-93ad-7e53fd4a6a11	g.chr22:50198006A>G	ENST00000216267.8	-	2	1856	c.1370T>C	c.(1369-1371)tTa>tCa	p.L457S	BRD1_ENST00000342989.5_Missense_Mutation_p.L52S|BRD1_ENST00000404034.1_Missense_Mutation_p.L457S|BRD1_ENST00000404760.1_Missense_Mutation_p.L457S|BRD1_ENST00000457780.2_Missense_Mutation_p.L457S|BRD1_ENST00000542442.1_Missense_Mutation_p.L150S	NM_014577.1	NP_055392.1	O95696	BRD1_HUMAN	bromodomain containing 1	457					histone H3 acetylation (GO:0043966)	MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleus (GO:0005634)	histone binding (GO:0042393)|zinc ion binding (GO:0008270)			endometrium(6)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	37		all_cancers(38;6.11e-10)|all_epithelial(38;8.06e-09)|all_lung(38;6.64e-05)|Lung NSC(38;0.0011)|Breast(42;0.00235)|Ovarian(80;0.0139)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0369)|BRCA - Breast invasive adenocarcinoma(115;0.21)		AATCCTATTTAACCTAAAACA	0.458																																						ENST00000216267.8																			0				endometrium(6)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	37						c.(1369-1371)tTa>tCa		bromodomain containing 1							73	76	75					22																	50198006		2203	4300	6503	SO:0001583	missense	23774				histone H3 acetylation	MOZ/MORF histone acetyltransferase complex	zinc ion binding	g.chr22:50198006A>G	AF005067	CCDS14080.1	22q13.33	2008-07-01	2002-01-14		ENSG00000100425	ENSG00000100425			1102	protein-coding gene	gene with protein product	"BR140-like"	604589	"bromodomain-containing 1"			10591208, 10602503	Standard	NM_014577		Approved	BRL, BRPF2	uc003biv.3	O95696	OTTHUMG00000150288	ENST00000216267.8:c.1370T>C	22.37:g.50198006A>G	ENSP00000216267:p.Leu457Ser					BRD1_ENST00000404034.1_Missense_Mutation_p.L457S|BRD1_ENST00000342989.5_Missense_Mutation_p.L52S|BRD1_ENST00000542442.1_Missense_Mutation_p.L150S|BRD1_ENST00000457780.2_Missense_Mutation_p.L457S|BRD1_ENST00000404760.1_Missense_Mutation_p.L457S	p.L457S	NM_014577.1	NP_055392.1	O95696	BRD1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.0369)|BRCA - Breast invasive adenocarcinoma(115;0.21)	2	1856	-		all_cancers(38;6.11e-10)|all_epithelial(38;8.06e-09)|all_lung(38;6.64e-05)|Lung NSC(38;0.0011)|Breast(42;0.00235)|Ovarian(80;0.0139)|Lung SC(80;0.164)	457					A6ZJA4	Missense_Mutation	SNP	ENST00000216267.8	37	c.1370T>C	CCDS14080.1	.	.	.	.	.	.	.	.	.	.	A	18.19	3.569565	0.65765	.	.	ENSG00000100425	ENST00000216267;ENST00000404034;ENST00000404760;ENST00000457780;ENST00000542442;ENST00000342989	T;T;T;T;T;T	0.33216	2.31;2.31;2.23;2.05;1.42;1.59	4.86	4.86	0.63082	.	0.302706	0.32386	N	0.006166	T	0.52789	0.1756	M	0.79926	2.475	0.54753	D	0.999987	D;D;D;D	0.67145	0.993;0.978;0.987;0.996	P;P;P;P	0.58660	0.701;0.762;0.556;0.843	T	0.60949	-0.7161	10	0.72032	D	0.01	.	14.4545	0.67407	1.0:0.0:0.0:0.0	.	457;52;457;457	Q86X06;B7Z926;O95696;O95696-2	.;.;BRD1_HUMAN;.	S	457;457;457;457;150;52	ENSP00000216267:L457S;ENSP00000384076:L457S;ENSP00000385858:L457S;ENSP00000410042:L457S;ENSP00000437514:L150S;ENSP00000345886:L52S	ENSP00000216267:L457S	L	-	2	0	BRD1	48584010	1.000000	0.71417	0.998000	0.56505	0.557000	0.35523	9.062000	0.93920	1.835000	0.53391	0.533000	0.62120	TTA		0.458	BRD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317402.1	NM_014577		3	87	0	0	0	0.150653	0	3	87					G	50198006	A	G	50198006	3	3	25	1	0	0	0	0	1	0	0	0	1501	372	13	4	1850	4	BRD1	22	50198006	Missense_Mutation	SNP	A	TCGA-CH-5753-01A-11D-1576-08	26052419	50198006	1106560	65	1131											
GABRE	2564	broad.mit.edu	37	chrX	151138738	151138738	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggcttctggcagtttgccaaCtctgctcccagtctcagtct	5	13	9	14	0	4	0	1	0	4	0	6	0	5	0	2	2	3	4	2	2	1	2			TCGA-CH-5753-01A-11D-1576-08	TCGA-CH-5753-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05a8fbba-61ac-42a4-b375-87f3a671446b	c1987c4d-84f8-4464-93ad-7e53fd4a6a11	g.chrX:151138738C>T	ENST00000370328.3	-	2	246	c.193G>A	c.(193-195)Gtt>Att	p.V65I	GABRE_ENST00000370325.1_Missense_Mutation_p.V65I|GABRE_ENST00000393914.3_5'UTR	NM_004961.3	NP_004952.2	P78334	GBRE_HUMAN	gamma-aminobutyric acid (GABA) A receptor, epsilon	65					gamma-aminobutyric acid signaling pathway (GO:0007214)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)	p.V65I(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|skin(1)	27	Acute lymphoblastic leukemia(192;6.56e-05)				Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	AGTTTGCCAACTCTGCTCCCA	0.532																																						ENST00000370325.1																			1	Substitution - Missense(1)	p.V65I(1)	prostate(1)	breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|skin(1)	27						c.(193-195)Gtt>Att		gamma-aminobutyric acid (GABA) A receptor, epsilon							171	153	159					X																	151138738		2203	4300	6503	SO:0001583	missense	2564				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chrX:151138738C>T	Y09765	CCDS14703.1	Xq28	2012-06-22			ENSG00000102287	ENSG00000102287		"GABA receptors", "Ligand-gated ion channels / GABA(A) receptors"	4085	protein-coding gene	gene with protein product	"GABA(A) receptor, epsilon"	300093				9039914, 9084408	Standard	NM_004961		Approved		uc004ffi.3	P78334	OTTHUMG00000024176	ENST00000370328.3:c.193G>A	X.37:g.151138738C>T	ENSP00000359353:p.Val65Ile					GABRE_ENST00000393914.3_5'UTR|GABRE_ENST00000370328.3_Missense_Mutation_p.V65I	p.V65I			P78334	GBRE_HUMAN			2	246	-	Acute lymphoblastic leukemia(192;6.56e-05)		65					E7ET93|O15345|O15346|Q6PCD2|Q99520	Missense_Mutation	SNP	ENST00000370328.3	37	c.193G>A	CCDS14703.1	.	.	.	.	.	.	.	.	.	.	c	0.056	-1.235223	0.01505	.	.	ENSG00000102287	ENST00000370328;ENST00000370325	T;T	0.78595	-1.19;-0.61	3.89	-2.6	0.06190	.	2.246790	0.02296	N	0.070731	T	0.54615	0.1869	N	0.08118	0	0.09310	N	0.999999	B	0.22003	0.063	B	0.19666	0.026	T	0.37663	-0.9696	10	0.19590	T	0.45	.	3.1516	0.06490	0.2464:0.188:0.4603:0.1052	.	65	P78334	GBRE_HUMAN	I	65	ENSP00000359353:V65I;ENSP00000359350:V65I	ENSP00000359350:V65I	V	-	1	0	GABRE	150889394	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-0.472000	0.06623	-0.817000	0.04335	-0.223000	0.12442	GTT		0.532	GABRE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060903.1	NM_004961, NM_021990, NM_021984		10	220	0	0	0	0.411799	0	10	220					T	151138738	C	T	151138738	3	4	25	1	0	0	0	0	1	0	0	0	6170	565	20	3	1359	3	GABRE	23	151138738	Missense_Mutation	SNP	C	TCGA-CH-5753-01A-11D-1576-08		151138738	4131822	66	1132											
PLCH2	9651	broad.mit.edu	37	chr1	2419086	2419086	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cccattgtgcaccatggctaCactctgacttccaagatcct	9	11	6	15	0	1	2	0	1	1	1	3	2	3	2	4	1	2	2	4	1	2	3			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr1:2419086C>A	ENST00000419816.2	+	8	1438	c.1164C>A	c.(1162-1164)taC>taA	p.Y388*	PLCH2_ENST00000378488.3_Nonsense_Mutation_p.Y388*|PLCH2_ENST00000449969.1_Nonsense_Mutation_p.Y361*|PLCH2_ENST00000288766.5_Intron|PLCH2_ENST00000378486.3_Nonsense_Mutation_p.Y388*			O75038	PLCH2_HUMAN	phospholipase C, eta 2	388	PI-PLC X-box. {ECO:0000255|PROSITE- ProRule:PRU00270}.				inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|phosphatidylinositol metabolic process (GO:0046488)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871)	p.Y388*(1)|p.Y235*(1)		central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(3)|skin(1)	20	all_cancers(77;0.000161)|all_epithelial(69;5.98e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;7.32e-16)|all_lung(118;1.15e-06)|Lung NSC(185;6.26e-05)|Renal(390;0.00571)|Breast(487;0.00832)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;1.44e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.78e-23)|GBM - Glioblastoma multiforme(42;2.8e-08)|Colorectal(212;4.19e-05)|COAD - Colon adenocarcinoma(227;0.000195)|Kidney(185;0.00034)|BRCA - Breast invasive adenocarcinoma(365;0.00443)|KIRC - Kidney renal clear cell carcinoma(229;0.00548)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.2)		ACCATGGCTACACTCTGACTT	0.592																																						ENST00000449969.1																			2	Substitution - Nonsense(2)	p.Y388*(1)|p.Y235*(1)	prostate(2)	central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(3)|skin(1)	20						c.(1081-1083)taC>taA		phospholipase C, eta 2							45	50	48					1																	2419086		2047	4192	6239	SO:0001587	stop_gained	9651				intracellular signal transduction|lipid catabolic process	cytoplasm|plasma membrane	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr1:2419086C>A	AB007919	CCDS59959.1	1p36.32	2013-01-10	2006-03-16	2006-03-16	ENSG00000149527	ENSG00000149527	3.1.4.11	"EF-hand domain containing"	29037	protein-coding gene	gene with protein product		612836	"phospholipase C-like 4"	PLCL4		15899900	Standard	XM_006711054		Approved	KIAA0450, PLCeta2, RP3-395M20.1, PLC-eta2	uc001aji.1	O75038	OTTHUMG00000000719	ENST00000419816.2:c.1164C>A	1.37:g.2419086C>A	ENSP00000389803:p.Tyr388*					PLCH2_ENST00000419816.2_Nonsense_Mutation_p.Y388*|PLCH2_ENST00000378486.3_Nonsense_Mutation_p.Y388*|PLCH2_ENST00000378488.3_Nonsense_Mutation_p.Y388*|PLCH2_ENST00000288766.5_Intron|PLCH2_ENST00000378483.2_Intron	p.Y361*			O75038	PLCH2_HUMAN		Epithelial(90;1.44e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.78e-23)|GBM - Glioblastoma multiforme(42;2.8e-08)|Colorectal(212;4.19e-05)|COAD - Colon adenocarcinoma(227;0.000195)|Kidney(185;0.00034)|BRCA - Breast invasive adenocarcinoma(365;0.00443)|KIRC - Kidney renal clear cell carcinoma(229;0.00548)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.2)	8	1244	+	all_cancers(77;0.000161)|all_epithelial(69;5.98e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;7.32e-16)|all_lung(118;1.15e-06)|Lung NSC(185;6.26e-05)|Renal(390;0.00571)|Breast(487;0.00832)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)	388			PI-PLC X-box.		A2VCM3|B9DI80|Q3LUA8|Q86XJ2|Q86XU1|Q86YU7|Q8TEH5|Q8WUS6	Nonsense_Mutation	SNP	ENST00000419816.2	37	c.1083C>A		.	.	.	.	.	.	.	.	.	.	C	45	11.356288	0.99551	.	.	ENSG00000149527	ENST00000449969;ENST00000378486;ENST00000378488;ENST00000343889;ENST00000278878	.	.	.	4.77	0.0768	0.14405	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.3291	0.38010	0.0:0.5606:0.0:0.4394	.	.	.	.	X	361;388;388;235;176	.	ENSP00000278878:Y176X	Y	+	3	2	PLCH2	2408946	1.000000	0.71417	0.995000	0.50966	0.943000	0.58893	2.463000	0.45058	0.106000	0.17784	0.561000	0.74099	TAC		0.592	PLCH2-009	KNOWN	non_canonical_conserved|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000467514.1	NM_014638		5	64	1	0	1.024e-07	1	1.08902e-07	5	64					A	2419086	C	A	2419086	4	1	26	1	0	0	0	0	0	1	0	0	12038	489	17	5	1194	5	PLCH2	1	2419086	Nonsense_Mutation	SNP	C	TCGA-CH-5754-01A-11D-1576-08		2419086	246831535	1	1133											
UBE4B	10277	broad.mit.edu	37	chr1	10231330	10231330	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aagctgttggaccaactgacGgatatttacttacagctgga	12	11	10	8	1	0	1	0	1	0	0	0	4	0	4	1	3	5	3	1	3	5	5	rs142901446		TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr1:10231330G>A	ENST00000253251.8	+	24	3920	c.3081G>A	c.(3079-3081)acG>acA	p.T1027T	UBE4B_ENST00000343090.6_Silent_p.T1156T|UBE4B_ENST00000377157.3_Silent_p.T911T					ubiquitination factor E4B									p.T1027T(1)|p.T1156T(1)		NS(3)|breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(14)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	48		all_lung(284;1.13e-05)|Lung NSC(185;1.74e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0268)|Colorectal(212;1.42e-07)|COAD - Colon adenocarcinoma(227;2.77e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000435)|Kidney(185;0.000482)|KIRC - Kidney renal clear cell carcinoma(229;0.00164)|STAD - Stomach adenocarcinoma(132;0.0117)|READ - Rectum adenocarcinoma(331;0.046)		ACCAACTGACGGATATTTACT	0.478																																						ENST00000377157.3																			2	Substitution - coding silent(2)	p.T1027T(1)|p.T1156T(1)	prostate(2)	NS(3)|breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(14)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	48						c.(2731-2733)acG>acA		ubiquitination factor E4B		G	,	1,4405	2.1+/-5.4	0,1,2202	129	128	128		3468,3081	-9.4	0.4	1	dbSNP_134	128	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	UBE4B	NM_001105562.2,NM_006048.4	,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,	1156/1303,1027/1174	10231330	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	10277				apoptosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to UV	cytoplasm|ubiquitin ligase complex	enzyme binding	g.chr1:10231330G>A	AF091093	CCDS110.1, CCDS41245.1	1p36.1	2013-01-28	2011-05-19		ENSG00000130939	ENSG00000130939		"U-box domain containing"	12500	protein-coding gene	gene with protein product		613565	"ubiquitination factor E4B (homologous to yeast UFD2)", "ubiquitination factor E4B (UFD2 homolog, yeast)"			9734811, 10089879	Standard	NM_006048		Approved	UBOX3, E4, UFD2, KIAA0684	uc001aqs.4	O95155	OTTHUMG00000001797	ENST00000253251.8:c.3081G>A	1.37:g.10231330G>A						UBE4B_ENST00000253251.8_Silent_p.T1027T|UBE4B_ENST00000343090.6_Silent_p.T1156T	p.T911T	NM_006048.4	NP_006039.2	O95155	UBE4B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0268)|Colorectal(212;1.42e-07)|COAD - Colon adenocarcinoma(227;2.77e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000435)|Kidney(185;0.000482)|KIRC - Kidney renal clear cell carcinoma(229;0.00164)|STAD - Stomach adenocarcinoma(132;0.0117)|READ - Rectum adenocarcinoma(331;0.046)	24	3794	+		all_lung(284;1.13e-05)|Lung NSC(185;1.74e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)	1156						Silent	SNP	ENST00000253251.8	37	c.2733G>A	CCDS110.1																																																																																				0.478	UBE4B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005017.1	NM_006048		81	232	0	0	0	1	0	81	232					A	10231330	G	A	10231330	2	1	26	1	0	0	0	0	0	0	0	1	16880	1103	39	2		2	UBE4B	1	10231330	Silent	SNP	G	TCGA-CH-5754-01A-11D-1576-08	7812244	10231330	239019291	2	1134											
VPS13D	55187	broad.mit.edu	37	chr1	12337950	12337950	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	attaaactgtattctttgaaTtgcacccagttggcaggtag	11	14	9	7	0	1	1	0	1	1	0	1	1	1	1	1	2	2	5	1	2	5	7			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr1:12337950T>G	ENST00000358136.3	+	19	4435	c.4305T>G	c.(4303-4305)aaT>aaG	p.N1435K	VPS13D_ENST00000356315.4_Missense_Mutation_p.N1435K	NM_015378.2	NP_056193.2			vacuolar protein sorting 13 homolog D (S. cerevisiae)									p.N1435K(1)		NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		ATTCTTTGAATTGCACCCAGT	0.498																																						ENST00000358136.3																			1	Substitution - Missense(1)	p.N1435K(1)	prostate(1)	NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130						c.(4303-4305)aaT>aaG		vacuolar protein sorting 13 homolog D (S. cerevisiae)							129	127	128					1																	12337950		2203	4300	6503	SO:0001583	missense	55187				protein localization			g.chr1:12337950T>G	AJ608774	CCDS30588.1, CCDS30589.1	1p36.21	2008-02-05	2006-04-04		ENSG00000048707	ENSG00000048707			23595	protein-coding gene	gene with protein product		608877	"vacuolar protein sorting 13D (yeast)"				Standard	NM_015378		Approved	FLJ10619, KIAA0453	uc001atv.3	Q5THJ4	OTTHUMG00000013155	ENST00000358136.3:c.4305T>G	1.37:g.12337950T>G	ENSP00000350854:p.Asn1435Lys					VPS13D_ENST00000356315.4_Missense_Mutation_p.N1435K	p.N1435K	NM_015378.2	NP_056193.2	Q5THJ4	VP13D_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)	19	4435	+	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)	1435						Missense_Mutation	SNP	ENST00000358136.3	37	c.4305T>G	CCDS30588.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	16.22|16.22	3.061030|3.061030	0.55432|0.55432	.|.	.|.	ENSG00000048707|ENSG00000048707	ENST00000011700|ENST00000356315;ENST00000358136	.|T;T	.|0.53857	.|0.6;0.62	6.16|6.16	-5.33|-5.33	0.02713|0.02713	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.31857|0.31857	0.0810|0.0810	L|L	0.34521|0.34521	1.04|1.04	0.80722|0.80722	D|D	1|1	.|B;B	.|0.22276	.|0.012;0.067	.|B;B	.|0.17098	.|0.017;0.017	T|T	0.08554|0.08554	-1.0716|-1.0716	5|10	.|0.17369	.|T	.|0.5	.|.	11.4777|11.4777	0.50308|0.50308	0.1032:0.5876:0.0:0.3092|0.1032:0.5876:0.0:0.3092	.|.	.|1435;1435	.|Q5THJ4-2;Q5THJ4	.|.;VP13D_HUMAN	S|K	258|1435	.|ENSP00000348666:N1435K;ENSP00000350854:N1435K	.|ENSP00000348666:N1435K	I|N	+|+	2|3	0|2	VPS13D|VPS13D	12260537|12260537	0.926000|0.926000	0.31397|0.31397	0.714000|0.714000	0.30535|0.30535	0.654000|0.654000	0.38779|0.38779	0.031000|0.031000	0.13710|0.13710	-0.899000|-0.899000	0.03901|0.03901	0.528000|0.528000	0.53228|0.53228	ATT|AAT		0.498	VPS13D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000036897.2	NM_015378		88	179	0	0	0	1	0	88	179					G	12337950	T	G	12337950	3	3	26	1	0	0	0	0	1	0	0	0	17189	1490	52	5	4375	5	VPS13D	1	12337950	Missense_Mutation	SNP	T	TCGA-CH-5754-01A-11D-1576-08	2106620	12337950	236912671	3	1135											
EPHB2	2048	broad.mit.edu	37	chr1	23110993	23110993	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctacggaccaagtttatcCggcgccgtggcgcccaccgc	6	6	13	16	6	0	0	0	0	0	0	1	1	1	1	5	4	1	2	5	4	3	3	rs139122679		TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr1:23110993C>T	ENST00000400191.3	+	3	253	c.235C>T	c.(235-237)Cgg>Tgg	p.R79W	EPHB2_ENST00000374632.3_Missense_Mutation_p.R79W|EPHB2_ENST00000544305.1_Missense_Mutation_p.R79W|EPHB2_ENST00000374627.1_Missense_Mutation_p.R73W|EPHB2_ENST00000374630.3_Missense_Mutation_p.R79W	NM_004442.6|NM_017449.3	NP_004433.2|NP_059145.2	P29323	EPHB2_HUMAN	EPH receptor B2	79	Eph LBD. {ECO:0000255|PROSITE- ProRule:PRU00883}.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|camera-type eye morphogenesis (GO:0048593)|central nervous system projection neuron axonogenesis (GO:0021952)|commissural neuron axon guidance (GO:0071679)|corpus callosum development (GO:0022038)|dendritic spine development (GO:0060996)|dendritic spine morphogenesis (GO:0060997)|ephrin receptor signaling pathway (GO:0048013)|inner ear morphogenesis (GO:0042472)|learning (GO:0007612)|negative regulation of axonogenesis (GO:0050771)|nervous system development (GO:0007399)|optic nerve morphogenesis (GO:0021631)|palate development (GO:0060021)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|positive regulation of synapse assembly (GO:0051965)|regulation of body fluid levels (GO:0050878)|retinal ganglion cell axon guidance (GO:0031290)|urogenital system development (GO:0001655)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|protein tyrosine kinase activity (GO:0004713)|transmembrane-ephrin receptor activity (GO:0005005)	p.R79W(1)		NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(8)|stomach(1)|urinary_tract(1)	56		Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153)		CAAGTTTATCCGGCGCCGTGG	0.577																																						ENST00000400191.3																			1	Substitution - Missense(1)	p.R79W(1)	prostate(1)	NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(8)|stomach(1)|urinary_tract(1)	56						c.(235-237)Cgg>Tgg		EPH receptor B2		C	TRP/ARG,TRP/ARG	0,4406		0,0,2203	65	59	61		235,235	4.4	1	1	dbSNP_134	61	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	EPHB2	NM_004442.6,NM_017449.3	101,101	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging	79/988,79/987	23110993	1,13005	2203	4300	6503	SO:0001583	missense	2048				axon guidance	integral to plasma membrane	ATP binding|transmembrane-ephrin receptor activity	g.chr1:23110993C>T	AF025304	CCDS229.2, CCDS230.1	1p36.1-p35	2014-09-17	2004-10-28		ENSG00000133216	ENSG00000133216	2.7.10.1	"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3393	protein-coding gene	gene with protein product		600997	"EphB2"	DRT, ERK, EPHT3		1648701	Standard	NM_017449		Approved	Hek5, Tyro5	uc001bge.3	P29323	OTTHUMG00000002881	ENST00000400191.3:c.235C>T	1.37:g.23110993C>T	ENSP00000383053:p.Arg79Trp					EPHB2_ENST00000374627.1_Missense_Mutation_p.R73W|EPHB2_ENST00000544305.1_Missense_Mutation_p.R79W|EPHB2_ENST00000374632.3_Missense_Mutation_p.R79W|EPHB2_ENST00000374630.3_Missense_Mutation_p.R79W	p.R79W	NM_004442.6|NM_017449.3	NP_004433.2|NP_059145.2	P29323	EPHB2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153)	3	253	+		Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258)	79					O43477|Q5T0U6|Q5T0U7|Q5T0U8	Missense_Mutation	SNP	ENST00000400191.3	37	c.235C>T		.	.	.	.	.	.	.	.	.	.	C	14.40	2.524929	0.44969	0.0	1.16E-4	ENSG00000133216	ENST00000374625;ENST00000544305;ENST00000374630;ENST00000400191;ENST00000374632;ENST00000374627	T;T;T;T;T	0.03772	3.81;3.81;3.81;3.81;3.81	5.29	4.38	0.52667	Ephrin receptor, ligand binding (2);Galactose-binding domain-like (1);	0.000000	0.85682	D	0.000000	T	0.03520	0.0101	N	0.11560	0.145	0.58432	D	0.999994	B;B;B;B	0.26318	0.146;0.014;0.014;0.011	B;B;B;B	0.25614	0.062;0.013;0.013;0.008	T	0.53436	-0.8439	10	0.33141	T	0.24	.	14.8179	0.70048	0.0:0.855:0.145:0.0	.	79;79;97;79	A6NJM0;P29323;Q4LE53;P29323-3	.;EPHB2_HUMAN;.;.	W	79;79;79;79;79;73	ENSP00000444174:R79W;ENSP00000363761:R79W;ENSP00000383053:R79W;ENSP00000363763:R79W;ENSP00000363758:R73W	ENSP00000363755:R79W	R	+	1	2	EPHB2	22983580	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.609000	0.54117	1.460000	0.47911	0.484000	0.47621	CGG		0.577	EPHB2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000008060.2	NM_017449		20	33	0	0	0	1	0	20	33					T	23110993	C	T	23110993	3	4	26	1	0	0	0	0	1	0	0	0	5175	643	23	2	245	2	EPHB2	1	23110993	Missense_Mutation	SNP	C	TCGA-CH-5754-01A-11D-1576-08	10773043	23110993	226139628	4	1136											
EDN2	1907	broad.mit.edu	37	chr1	41948239	41948239	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcgtcttggcgggtttcccAggccgtaaggagctgtctgt	4	11	16	10	3	2	0	0	0	2	0	3	1	3	1	2	5	1	3	2	5	1	3			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr1:41948239A>T	ENST00000372587.4	-	3	311	c.242T>A	c.(241-243)cTg>cAg	p.L81Q	EDN2_ENST00000490783.1_5'UTR	NM_001956.3	NP_001947.1	P20800	EDN2_HUMAN	endothelin 2	81					artery smooth muscle contraction (GO:0014824)|calcium-mediated signaling (GO:0019722)|cell surface receptor signaling pathway (GO:0007166)|cytokine-mediated signaling pathway (GO:0019221)|energy homeostasis (GO:0097009)|hormonal regulation of the force of heart contraction (GO:0003058)|inositol phosphate-mediated signaling (GO:0048016)|lung alveolus development (GO:0048286)|macrophage activation (GO:0042116)|macrophage chemotaxis (GO:0048246)|neutrophil chemotaxis (GO:0030593)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of heart rate (GO:0010460)|positive regulation of leukocyte chemotaxis (GO:0002690)|positive regulation of prostaglandin-endoperoxide synthase activity (GO:0060585)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of the force of heart contraction by chemical signal (GO:0003099)|prostaglandin biosynthetic process (GO:0001516)|regulation of systemic arterial blood pressure by endothelin (GO:0003100)|regulation of vasoconstriction (GO:0019229)|temperature homeostasis (GO:0001659)|vasoconstriction (GO:0042310)|vein smooth muscle contraction (GO:0014826)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	hormone activity (GO:0005179)	p.L81Q(1)		endometrium(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	8	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				CGGGTTTCCCAGGCCGTAAGG	0.617																																						ENST00000372587.4																			1	Substitution - Missense(1)	p.L81Q(1)	prostate(1)	endometrium(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	8						c.(241-243)cTg>cAg		endothelin 2							22	30	27					1																	41948239		2193	4283	6476	SO:0001583	missense	1907				artery smooth muscle contraction|calcium-mediated signaling|cytokine-mediated signaling pathway|elevation of cytosolic calcium ion concentration|hormonal regulation of the force of heart contraction|inositol phosphate-mediated signaling|macrophage activation|macrophage chemotaxis|neutrophil chemotaxis|positive regulation of cell proliferation|positive regulation of heart rate|positive regulation of leukocyte chemotaxis|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of the force of heart contraction by chemical signal|prostaglandin biosynthetic process|regulation of systemic arterial blood pressure by endothelin|regulation of vasoconstriction|vein smooth muscle contraction	extracellular space	endothelin B receptor binding|hormone activity	g.chr1:41948239A>T	M65199	CCDS462.1	1p34	2013-02-26			ENSG00000127129	ENSG00000127129		"Endogenous ligands"	3177	protein-coding gene	gene with protein product		131241					Standard	NM_001956		Approved	ET2	uc009vwh.3	P20800	OTTHUMG00000006362	ENST00000372587.4:c.242T>A	1.37:g.41948239A>T	ENSP00000361668:p.Leu81Gln					EDN2_ENST00000490783.1_5'UTR	p.L81Q	NM_001956.3	NP_001947.1	P20800	EDN2_HUMAN			3	311	-	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)	81					Q5T1R3	Missense_Mutation	SNP	ENST00000372587.4	37	c.242T>A	CCDS462.1	.	.	.	.	.	.	.	.	.	.	A	23.5	4.423647	0.83559	.	.	ENSG00000127129	ENST00000372587	D	0.92199	-2.99	5.29	5.29	0.74685	.	0.000000	0.64402	D	0.000001	D	0.96131	0.8739	M	0.86953	2.85	0.48632	D	0.999683	D	0.89917	1.0	D	0.80764	0.994	D	0.96607	0.9449	10	0.87932	D	0	-11.8953	12.7118	0.57094	1.0:0.0:0.0:0.0	.	81	P20800	EDN2_HUMAN	Q	81	ENSP00000361668:L81Q	ENSP00000361668:L81Q	L	-	2	0	EDN2	41720826	1.000000	0.71417	1.000000	0.80357	0.881000	0.50899	6.433000	0.73404	2.214000	0.71695	0.533000	0.62120	CTG		0.617	EDN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000016983.1	NM_001956		7	20	0	0	0	1	0	7	20					T	41948239	A	T	41948239	3	4	26	1	0	0	0	0	1	0	0	0	4917	188	7	5	306	5	EDN2	1	41948239	Missense_Mutation	SNP	A	TCGA-CH-5754-01A-11D-1576-08	18837246	41948239	207302382	5	1137											
TGFBR3	7049	broad.mit.edu	37	chr1	92262994	92262994	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acaggatgggaggcactgacAggtgacagttcacacagtgc	12	6	14	9	0	1	2	1	2	0	0	1	4	1	4	0	4	1	2	0	4	0	1	rs373417209		TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr1:92262994A>T	ENST00000525962.1	-	2	157	c.96T>A	c.(94-96)ccT>ccA	p.P32P	TGFBR3_ENST00000370399.2_Silent_p.P32P|TGFBR3_ENST00000212355.4_Silent_p.P32P			Q03167	TGBR3_HUMAN	transforming growth factor, beta receptor III	32					blastocyst development (GO:0001824)|blood vessel development (GO:0001568)|BMP signaling pathway (GO:0030509)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac muscle cell proliferation (GO:0060038)|cell growth (GO:0016049)|cell migration (GO:0016477)|definitive erythrocyte differentiation (GO:0060318)|definitive hemopoiesis (GO:0060216)|epithelial to mesenchymal transition (GO:0001837)|heart morphogenesis (GO:0003007)|heart trabecula formation (GO:0060347)|immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|liver development (GO:0001889)|negative regulation of cellular component movement (GO:0051271)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|organ regeneration (GO:0031100)|palate development (GO:0060021)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of protein binding (GO:0043393)|response to follicle-stimulating hormone (GO:0032354)|response to hypoxia (GO:0001666)|response to luteinizing hormone (GO:0034699)|response to prostaglandin E (GO:0034695)|transforming growth factor beta receptor complex assembly (GO:0007181)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|inhibin-betaglycan-ActRII complex (GO:0034673)|integral component of plasma membrane (GO:0005887)|proteinaceous extracellular matrix (GO:0005578)	coreceptor activity (GO:0015026)|glycosaminoglycan binding (GO:0005539)|heparin binding (GO:0008201)|PDZ domain binding (GO:0030165)|SMAD binding (GO:0046332)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta receptor activity, type III (GO:0070123)|transforming growth factor beta receptor binding (GO:0005160)|transforming growth factor beta-activated receptor activity (GO:0005024)|type II transforming growth factor beta receptor binding (GO:0005114)	p.P32P(1)		endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(24)|ovary(3)|prostate(4)|skin(1)|stomach(1)|urinary_tract(3)	55		all_lung(203;0.00719)|Lung NSC(277;0.0268)		all cancers(265;0.0108)|Epithelial(280;0.0825)		AGGCACTGACAGGTGACAGTT	0.552																																						ENST00000212355.4																			1	Substitution - coding silent(1)	p.P32P(1)	prostate(1)	endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(24)|ovary(3)|prostate(4)|skin(1)|stomach(1)|urinary_tract(3)	55						c.(94-96)ccT>ccA		transforming growth factor, beta receptor III							75	74	74					1																	92262994		2203	4300	6503	SO:0001819	synonymous_variant	7049				BMP signaling pathway|cardiac epithelial to mesenchymal transition|cardiac muscle cell proliferation|cell growth|cell migration|definitive erythrocyte differentiation|heart trabecula formation|immune response|intracellular protein kinase cascade|liver development|negative regulation of cellular component movement|negative regulation of epithelial cell proliferation|palate development|pathway-restricted SMAD protein phosphorylation|response to follicle-stimulating hormone stimulus|response to luteinizing hormone stimulus|response to prostaglandin E stimulus|transforming growth factor beta receptor signaling pathway|ventricular cardiac muscle tissue morphogenesis	external side of plasma membrane|extracellular space|inhibin-betaglycan-ActRII complex|integral to plasma membrane|intracellular membrane-bounded organelle	coreceptor activity|heparin binding|PDZ domain binding|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type III|type II transforming growth factor beta receptor binding	g.chr1:92262994A>T	L07594	CCDS30770.1, CCDS55614.1	1p33-p32	2008-02-05	2007-02-15		ENSG00000069702	ENSG00000069702		"Proteoglycans / Cell surface : Other"	11774	protein-coding gene	gene with protein product	"betaglycan proteoglycan"	600742	"transforming growth factor, beta receptor III (betaglycan, 300kDa)"			1333192, 1319842	Standard	NM_001195684		Approved	betaglycan, BGCAN	uc001doh.3	Q03167	OTTHUMG00000010097	ENST00000525962.1:c.96T>A	1.37:g.92262994A>T						TGFBR3_ENST00000525962.1_Silent_p.P32P|TGFBR3_ENST00000370399.2_Silent_p.P32P	p.P32P	NM_001195683.1|NM_003243.4	NP_001182612.1|NP_003234.2	Q03167	TGBR3_HUMAN		all cancers(265;0.0108)|Epithelial(280;0.0825)	3	561	-		all_lung(203;0.00719)|Lung NSC(277;0.0268)	32					A0AUW8|A8K5N0|B9EG88|Q5T2T4|Q5U731|Q9UGI2	Silent	SNP	ENST00000525962.1	37	c.96T>A	CCDS30770.1																																																																																				0.552	TGFBR3-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382308.1	NM_003243		42	96	0	0	0	1	0	42	96					T	92262994	A	T	92262994	2	4	26	1	0	0	0	0	0	0	0	1	15820	175	7	5		5	TGFBR3	1	92262994	Silent	SNP	A	TCGA-CH-5754-01A-11D-1576-08	50314755	92262994	156987627	6	1138											
VAV3	10451	broad.mit.edu	37	chr1	108417620	108417620	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aggccgtgagaaatgtccttAtgttcttcaaacagagaaac	14	10	9	8	1	2	2	1	1	1	2	3	4	3	2	2	1	2	1	2	1	4	3			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr1:108417620A>C	ENST00000370056.4	-	2	498	c.224T>G	c.(223-225)aTa>aGa	p.I75R	VAV3_ENST00000527011.1_Missense_Mutation_p.I75R|VAV3_ENST00000371846.4_Missense_Mutation_p.I10R	NM_006113.4	NP_006104.4	Q9UKW4	VAV3_HUMAN	vav 3 guanine nucleotide exchange factor	75	CH. {ECO:0000255|PROSITE- ProRule:PRU00044}.				angiogenesis (GO:0001525)|apoptotic signaling pathway (GO:0097190)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|cellular response to DNA damage stimulus (GO:0006974)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|lamellipodium assembly (GO:0030032)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil chemotaxis (GO:0030593)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cell adhesion (GO:0045785)|positive regulation of GTPase activity (GO:0043547)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of signal transduction (GO:0009967)|regulation of Rac GTPase activity (GO:0032314)|regulation of small GTPase mediated signal transduction (GO:0051056)|response to drug (GO:0042493)|small GTPase mediated signal transduction (GO:0007264)|vesicle fusion (GO:0006906)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|SH3/SH2 adaptor activity (GO:0005070)	p.I75R(2)		NS(2)|breast(5)|endometrium(4)|kidney(2)|large_intestine(14)|lung(20)|ovary(6)|prostate(3)|stomach(1)|urinary_tract(1)	58		all_epithelial(167;5.38e-05)|all_lung(203;0.000314)|Lung NSC(277;0.000594)		Colorectal(144;0.0331)|Lung(183;0.128)|Epithelial(280;0.204)		AAATGTCCTTATGTTCTTCAA	0.398																																						ENST00000370056.4																			2	Substitution - Missense(2)	p.I75R(2)	prostate(2)	NS(2)|breast(5)|endometrium(4)|kidney(2)|large_intestine(14)|lung(20)|ovary(6)|prostate(3)|stomach(1)|urinary_tract(1)	58						c.(223-225)aTa>aGa		vav 3 guanine nucleotide exchange factor							81	77	79					1																	108417620		2203	4300	6503	SO:0001583	missense	10451				angiogenesis|apoptosis|B cell receptor signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of B cell proliferation|regulation of Rho protein signal transduction|response to DNA damage stimulus|response to drug|small GTPase mediated signal transduction	cytosol	GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity	g.chr1:108417620A>C	AF118886	CCDS785.1, CCDS44181.1	1p13.3	2013-02-14	2007-07-25		ENSG00000134215	ENSG00000134215		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing", "SH2 domain containing"	12659	protein-coding gene	gene with protein product		605541	"vav 3 oncogene"				Standard	NM_001079874		Approved		uc001dvk.1	Q9UKW4	OTTHUMG00000010995	ENST00000370056.4:c.224T>G	1.37:g.108417620A>C	ENSP00000359073:p.Ile75Arg					VAV3_ENST00000371846.4_Missense_Mutation_p.I10R|VAV3_ENST00000527011.1_Missense_Mutation_p.I75R	p.I75R	NM_006113.4	NP_006104.4	Q9UKW4	VAV3_HUMAN		Colorectal(144;0.0331)|Lung(183;0.128)|Epithelial(280;0.204)	2	498	-		all_epithelial(167;5.38e-05)|all_lung(203;0.000314)|Lung NSC(277;0.000594)	75			CH.		B1AMM0|B1APV5|B4E232|B7ZLR1|E9PQ97|O60498|O95230|Q9Y5X8	Missense_Mutation	SNP	ENST00000370056.4	37	c.224T>G	CCDS785.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.6|24.6	4.546321|4.546321	0.86022|0.86022	.|.	.|.	ENSG00000134215|ENSG00000134215	ENST00000370056;ENST00000527011;ENST00000371846|ENST00000490388	T;T;T|.	0.39997|.	1.05;1.05;1.05|.	6.08|6.08	6.08|6.08	0.98989|0.98989	Calponin homology domain (5);|.	0.164825|.	0.51477|.	D|.	0.000100|.	D|.	0.86756|.	0.6009|.	H|H	0.97732|0.97732	4.065|4.065	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	1.0;0.988;0.999|.	D;D;D|.	0.81914|.	0.995;0.953;0.989|.	D|.	0.91319|.	0.5080|.	10|.	0.87932|.	D|.	0|.	.|.	15.4678|15.4678	0.75416|0.75416	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	75;75;75|.	B7ZLR1;E9PQ97;Q9UKW4|.	.;.;VAV3_HUMAN|.	R|E	75;75;10|70	ENSP00000359073:I75R;ENSP00000432540:I75R;ENSP00000360912:I10R|.	ENSP00000359073:I75R|.	I|X	-|-	2|1	0|0	VAV3|VAV3	108219143|108219143	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	8.733000|8.733000	0.91539|0.91539	2.333000|2.333000	0.79357|0.79357	0.533000|0.533000	0.62120|0.62120	ATA|TAA		0.398	VAV3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030242.2	NM_006113		48	104	0	0	0	1	0	48	104					C	108417620	A	C	108417620	3	2	26	1	0	0	0	0	1	0	0	0	17130	449	16	5	2448	5	VAV3	1	108417620	Missense_Mutation	SNP	A	TCGA-CH-5754-01A-11D-1576-08	16154626	108417620	140833001	7	1139											
CACYBP	27101	broad.mit.edu	37	chr1	174979201	174979201	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gagagaagcaagccaaaggaGacacggaattttgagacttt	16	7	12	6	1	0	3	0	1	0	3	0	8	0	4	1	2	2	1	1	2	4	3			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr1:174979201G>A	ENST00000367679.2	+	6	1121	c.673G>A	c.(673-675)Gac>Aac	p.D225N	CACYBP_ENST00000367681.2_Missense_Mutation_p.D182N|MRPS14_ENST00000498253.1_5'Flank|CACYBP_ENST00000405362.1_Missense_Mutation_p.D182N	NM_014412.2	NP_055227.1	Q9HB71	CYBP_HUMAN	calcyclin binding protein	225	Interaction with S100A6. {ECO:0000250}.|Interaction with SKP1.|SGS. {ECO:0000255|PROSITE- ProRule:PRU00386}.				aging (GO:0007568)|cardiac muscle cell differentiation (GO:0055007)|cellular response to calcium ion (GO:0071277)|negative regulation of cell death (GO:0060548)|positive regulation of DNA replication (GO:0045740)|response to growth hormone (GO:0060416)	beta-catenin destruction complex (GO:0030877)|cell body (GO:0044297)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|neuron projection (GO:0043005)|nuclear envelope lumen (GO:0005641)|nucleus (GO:0005634)	protein homodimerization activity (GO:0042803)	p.D225N(1)		NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(1)|prostate(1)	11						AGCCAAAGGAGACACGGAATT	0.378																																						ENST00000367681.2																			1	Substitution - Missense(1)	p.D225N(1)	prostate(1)	NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(1)|prostate(1)	11						c.(544-546)Gac>Aac		calcyclin binding protein							100	96	98					1																	174979201		2203	4300	6503	SO:0001583	missense	27101					beta-catenin destruction complex	protein homodimerization activity	g.chr1:174979201G>A	BC022352	CCDS1315.1, CCDS30942.1	1q24-q25	2008-02-05			ENSG00000116161	ENSG00000116161			30423	protein-coding gene	gene with protein product		606186				11389839, 12421809	Standard	XM_005245092		Approved	SIP, S100A6BP	uc001gkj.1	Q9HB71	OTTHUMG00000034941	ENST00000367679.2:c.673G>A	1.37:g.174979201G>A	ENSP00000356652:p.Asp225Asn					CACYBP_ENST00000367679.2_Missense_Mutation_p.D225N|CACYBP_ENST00000405362.1_Missense_Mutation_p.D182N	p.D182N	NM_001007214.1	NP_001007215.1	Q9HB71	CYBP_HUMAN			6	1184	+			225			Interaction with S100A6 (By similarity).|Interaction with SKP1.|SGS.		B2ZWH2|B3KSF1|O60666|Q5R370|Q5R371	Missense_Mutation	SNP	ENST00000367679.2	37	c.544G>A	CCDS1315.1	.	.	.	.	.	.	.	.	.	.	G	33	5.279517	0.95489	.	.	ENSG00000116161	ENST00000367681;ENST00000450101;ENST00000367679;ENST00000405362	.	.	.	6.02	6.02	0.97574	SGS (1);	0.244102	0.46758	D	0.000270	T	0.71039	0.3293	M	0.72118	2.19	0.80722	D	1	D	0.56035	0.974	P	0.47981	0.563	T	0.73467	-0.3973	9	0.62326	D	0.03	-24.3566	20.5407	0.99260	0.0:0.0:1.0:0.0	.	225	Q9HB71	CYBP_HUMAN	N	182;198;225;182	.	ENSP00000356652:D225N	D	+	1	0	CACYBP	173245824	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	6.168000	0.71908	2.865000	0.98341	0.655000	0.94253	GAC		0.378	CACYBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084583.3	NM_014412		30	77	0	0	0	1	0	30	77					A	174979201	G	A	174979201	3	1	26	1	0	0	0	0	1	0	0	0	2564	942	33	3	695	3	CACYBP	1	174979201	Missense_Mutation	SNP	G	TCGA-CH-5754-01A-11D-1576-08	66561581	174979201	74271420	8	1140											
TDRD5	163589	broad.mit.edu	37	chr1	179638343	179638343	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcagcaactagacataaaTggttcttcagattcttccac	12	12	6	11	0	3	2	1	0	2	2	4	2	4	2	1	1	3	3	1	1	4	6			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr1:179638343T>C	ENST00000367614.1	+	16	2861	c.2502T>C	c.(2500-2502)aaT>aaC	p.N834N	TDRD5_ENST00000294848.8_Silent_p.N834N|TDRD5_ENST00000444136.1_Silent_p.N888N	NM_001199091.1	NP_001186020.1	Q8NAT2	TDRD5_HUMAN	tudor domain containing 5	834					DNA methylation involved in gamete generation (GO:0043046)|P granule organization (GO:0030719)|spermatid development (GO:0007286)	chromatoid body (GO:0033391)|pi-body (GO:0071546)		p.N834N(1)		NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(44)|ovary(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	77						TAGACATAAATGGTTCTTCAG	0.403																																						ENST00000444136.1																			1	Substitution - coding silent(1)	p.N834N(1)	prostate(1)	NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(44)|ovary(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	77						c.(2662-2664)aaT>aaC		tudor domain containing 5							95	101	99					1																	179638343		2203	4300	6503	SO:0001819	synonymous_variant	163589				DNA methylation involved in gamete generation|P granule organization|spermatid development	chromatoid body|pi-body	nucleic acid binding	g.chr1:179638343T>C	AK092142	CCDS1332.1, CCDS55663.1	1q24.2	2013-01-23			ENSG00000162782	ENSG00000162782		"Tudor domain containing"	20614	protein-coding gene	gene with protein product							Standard	NM_001199085		Approved	FLJ34823, TUDOR3	uc010pnp.2	Q8NAT2	OTTHUMG00000035259	ENST00000367614.1:c.2502T>C	1.37:g.179638343T>C						TDRD5_ENST00000294848.8_Silent_p.N834N|TDRD5_ENST00000367614.1_Silent_p.N834N	p.N888N	NM_001199085.1|NM_001199089.1	NP_001186014.1|NP_001186018.1	Q8NAT2	TDRD5_HUMAN			17	2914	+			860					A1L4G5|B7ZLV0|Q5EBN4|Q5VTV0|Q6ZSK2	Silent	SNP	ENST00000367614.1	37	c.2664T>C	CCDS1332.1																																																																																				0.403	TDRD5-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000085295.1	NM_173533		69	148	0	0	0	1	0	69	148					C	179638343	T	C	179638343	2	2	26	1	0	0	0	0	0	0	0	1	15730	1461	51	4		4	TDRD5	1	179638343	Silent	SNP	T	TCGA-CH-5754-01A-11D-1576-08	4659142	179638343	69612278	9	1141											
F13B	2165	broad.mit.edu	37	chr1	197030932	197030932	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	accatgttctttcctacaggTtggttgagaagaccatccat	10	13	8	10	0	1	2	0	1	1	2	3	3	3	2	4	2	1	3	4	2	2	5			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr1:197030932T>C	ENST00000367412.1	-	3	476	c.433A>G	c.(433-435)Acc>Gcc	p.T145A		NM_001994.2	NP_001985.2	P05160	F13B_HUMAN	coagulation factor XIII, B polypeptide	145	Sushi 2. {ECO:0000255|PROSITE- ProRule:PRU00302}.				blood coagulation (GO:0007596)	extracellular region (GO:0005576)		p.T145A(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(40)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	66						TTCCTACAGGTTGGTTGAGAA	0.373																																						ENST00000367412.1																			2	Substitution - Missense(2)	p.T145A(2)	prostate(1)|skin(1)	breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(40)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	66						c.(433-435)Acc>Gcc		coagulation factor XIII, B polypeptide							129	111	117					1																	197030932		2203	4300	6503	SO:0001583	missense	2165				blood coagulation	extracellular region		g.chr1:197030932T>C	M14057	CCDS1388.1	1q31-q32.1	2012-10-02			ENSG00000143278	ENSG00000143278			3534	protein-coding gene	gene with protein product		134580				2339067, 2271707	Standard	NM_001994		Approved	FXIIIB	uc001gtt.1	P05160	OTTHUMG00000036519	ENST00000367412.1:c.433A>G	1.37:g.197030932T>C	ENSP00000356382:p.Thr145Ala						p.T145A	NM_001994.2	NP_001985.2	P05160	F13B_HUMAN			3	476	-			145			Sushi 2.		A8K3E5|Q5VYL5	Missense_Mutation	SNP	ENST00000367412.1	37	c.433A>G	CCDS1388.1	.	.	.	.	.	.	.	.	.	.	T	10.83	1.462181	0.26248	.	.	ENSG00000143278	ENST00000367412	T	0.65916	-0.18	5.85	-9.51	0.00581	Complement control module (2);Sushi/SCR/CCP (3);	0.833937	0.09797	N	0.754625	T	0.45776	0.1359	L	0.54908	1.71	0.09310	N	1	B	0.09022	0.002	B	0.09377	0.004	T	0.15578	-1.0432	10	0.30078	T	0.28	.	6.9834	0.24715	0.1635:0.5554:0.0932:0.1879	.	145	P05160	F13B_HUMAN	A	145	ENSP00000356382:T145A	ENSP00000356382:T145A	T	-	1	0	F13B	195297555	0.000000	0.05858	0.075000	0.20258	0.887000	0.51463	-0.915000	0.04033	-2.131000	0.00815	-0.408000	0.06270	ACC		0.373	F13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088821.2	NM_001994		36	79	0	0	0	1	0	36	79					C	197030932	T	C	197030932	3	2	26	1	0	0	0	0	1	0	0	0	5341	1725	60	4	1592	4	F13B	1	197030932	Missense_Mutation	SNP	T	TCGA-CH-5754-01A-11D-1576-08	17392589	197030932	52219689	10	1142											
GPR37L1	9283	broad.mit.edu	37	chr1	202092294	202092294	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tgaggagtgggcggagtaccCccggcccattcaccctgctg	6	7	14	14	2	1	1	1	1	0	0	1	3	1	3	4	4	2	2	4	4	1	2			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr1:202092294C>T	ENST00000367282.5	+	1	309	c.203C>T	c.(202-204)cCc>cTc	p.P68L		NM_004767.3	NP_004758.3	O60883	ETBR2_HUMAN	G protein-coupled receptor 37 like 1	68					negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of smoothened signaling pathway (GO:0045879)|positive regulation of cerebellar granule cell precursor proliferation (GO:0021940)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	G-protein coupled receptor activity (GO:0004930)	p.P68L(1)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)	18						GCGGAGTACCCCCGGCCCATT	0.672																																						ENST00000367282.4																			1	Substitution - Missense(1)	p.P68L(1)	prostate(1)	central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)	18						c.(202-204)cCc>cTc		G protein-coupled receptor 37 like 1							48	44	45					1																	202092294		2203	4300	6503	SO:0001583	missense	9283					integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding	g.chr1:202092294C>T	AJ310210	CCDS1420.1	1q32	2012-08-21	2006-02-15		ENSG00000170075	ENSG00000170075		"GPCR / Class A : Orphans"	14923	protein-coding gene	gene with protein product						9539149	Standard	NM_004767		Approved	ETBR-LP-2	uc001gxj.3	O60883	OTTHUMG00000035924	ENST00000367282.5:c.203C>T	1.37:g.202092294C>T	ENSP00000356251:p.Pro68Leu						p.P68L	NM_004767.3	NP_004758.3	O60883	ETBR2_HUMAN			1	309	+			68					B2R7M9|Q5SXP7|Q86VP7	Missense_Mutation	SNP	ENST00000367282.5	37	c.203C>T	CCDS1420.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.112406	0.77210	.	.	ENSG00000170075	ENST00000367282	D	0.87571	-2.27	5.13	4.21	0.49690	.	0.242185	0.35615	N	0.003095	D	0.89594	0.6760	L	0.59436	1.845	0.80722	D	1	D	0.61697	0.99	P	0.56343	0.796	D	0.89701	0.3905	10	0.59425	D	0.04	-39.2225	13.0574	0.58988	0.1611:0.8389:0.0:0.0	.	68	O60883	ETBR2_HUMAN	L	68	ENSP00000356251:P68L	ENSP00000356251:P68L	P	+	2	0	GPR37L1	200358917	0.993000	0.37304	0.997000	0.53966	0.901000	0.52897	3.282000	0.51693	1.131000	0.42111	0.462000	0.41574	CCC		0.672	GPR37L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087496.2	NM_004767		6	45	0	0	0	1	0	6	45					T	202092294	C	T	202092294	3	4	26	1	0	0	0	0	1	0	0	0	6692	623	22	3	205	3	GPR37L1	1	202092294	Missense_Mutation	SNP	C	TCGA-CH-5754-01A-11D-1576-08	5061362	202092294	47158327	11	1143											
GPATCH2	55105	broad.mit.edu	37	chr1	217604605	217604605	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ttggctcagagatccccttgCcatctcgtccaaggcctgac	7	10	9	15	1	2	2	1	1	1	1	5	3	4	2	5	2	1	1	5	2	1	2			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr1:217604605C>T	ENST00000366935.3	-	10	1579	c.1469G>A	c.(1468-1470)gGc>gAc	p.G490D		NM_018040.2	NP_060510.1	Q9NW75	GPTC2_HUMAN	G patch domain containing 2	490	G-patch. {ECO:0000255|PROSITE- ProRule:PRU00092}.				negative regulation of phosphatase activity (GO:0010923)		nucleic acid binding (GO:0003676)	p.G490D(1)		NS(1)|breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(3)|stomach(1)	35				OV - Ovarian serous cystadenocarcinoma(81;0.0397)|all cancers(67;0.0744)|GBM - Glioblastoma multiforme(131;0.0872)		GATCCCCTTGCCATCTCGTCC	0.478																																						ENST00000366935.3																			1	Substitution - Missense(1)	p.G490D(1)	prostate(1)	NS(1)|breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(3)|stomach(1)	35						c.(1468-1470)gGc>gAc		G patch domain containing 2							130	134	133					1																	217604605		2203	4300	6503	SO:0001583	missense	55105					intracellular	nucleic acid binding	g.chr1:217604605C>T	AK001114	CCDS1518.1, CCDS73031.1	1q41	2013-01-28		2006-12-13	ENSG00000092978	ENSG00000092978		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "G patch domain containing"	25499	protein-coding gene	gene with protein product	"cancer/testis antigen 110", "protein phosphatase 1, regulatory subunit 30"			GPATC2		19432882, 15375528	Standard	XM_005273174		Approved	FLJ10252, CT110, PPP1R30	uc001hlf.1	Q9NW75	OTTHUMG00000000527	ENST00000366935.3:c.1469G>A	1.37:g.217604605C>T	ENSP00000355902:p.Gly490Asp						p.G490D	NM_018040.2	NP_060510.1	Q9NW75	GPTC2_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0397)|all cancers(67;0.0744)|GBM - Glioblastoma multiforme(131;0.0872)	10	1579	-			490			G-patch.		Q5VYK7|Q5VYK8|Q86YE7	Missense_Mutation	SNP	ENST00000366935.3	37	c.1469G>A	CCDS1518.1	.	.	.	.	.	.	.	.	.	.	C	30	5.054229	0.93793	.	.	ENSG00000092978	ENST00000366935	T	0.31769	1.48	5.83	5.83	0.93111	D111/G-patch (3);	0.051465	0.85682	D	0.000000	T	0.63438	0.2511	M	0.85945	2.785	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.66995	-0.5782	10	0.72032	D	0.01	-34.0729	20.111	0.97911	0.0:1.0:0.0:0.0	.	490	Q9NW75	GPTC2_HUMAN	D	490	ENSP00000355902:G490D	ENSP00000355902:G490D	G	-	2	0	GPATCH2	215671228	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.962000	0.76048	2.747000	0.94245	0.650000	0.86243	GGC		0.478	GPATCH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001272.1	NM_018040		6	377	0	0	0	1	0	6	377					T	217604605	C	T	217604605	3	4	26	1	0	0	0	0	1	0	0	0	6591	739	26	3	121	3	GPATCH2	1	217604605	Missense_Mutation	SNP	C	TCGA-CH-5754-01A-11D-1576-08	15512311	217604605	31646016	12	1144											
NLRP3	114548	broad.mit.edu	37	chr1	247587856	247587856	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atcctcggcatgtggagatcCtgggtttctccgaggccaaa	8	10	12	11	2	1	1	0	0	1	1	5	3	3	1	4	4	0	2	4	4	1	1			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr1:247587856C>A	ENST00000336119.3	+	3	1857	c.1111C>A	c.(1111-1113)Ctg>Atg	p.L371M	NLRP3_ENST00000474792.1_3'UTR|NLRP3_ENST00000391827.2_Missense_Mutation_p.L371M|NLRP3_ENST00000366497.2_Missense_Mutation_p.L371M|NLRP3_ENST00000366496.2_Missense_Mutation_p.L371M|NLRP3_ENST00000348069.2_Missense_Mutation_p.L371M|NLRP3_ENST00000391828.3_Missense_Mutation_p.L371M	NM_001127462.2|NM_001243133.1|NM_004895.4	NP_001120934.1|NP_001230062.1|NP_004886.3	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3	371	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|cellular response to lipopolysaccharide (GO:0071222)|defense response (GO:0006952)|defense response to virus (GO:0051607)|detection of biotic stimulus (GO:0009595)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-1 beta production (GO:0032611)|interleukin-1 secretion (GO:0050701)|interleukin-18 production (GO:0032621)|negative regulation of acute inflammatory response (GO:0002674)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 beta secretion (GO:0050713)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|NLRP3 inflammasome complex assembly (GO:0044546)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein oligomerization (GO:0051259)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|NLRP3 inflammasome complex (GO:0072559)	ATP binding (GO:0005524)|peptidoglycan binding (GO:0042834)	p.L371M(1)		NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			TGTGGAGATCCTGGGTTTCTC	0.547																																						ENST00000366497.2																			1	Substitution - Missense(1)	p.L371M(1)	prostate(1)	NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142						c.(1111-1113)Ctg>Atg		NLR family, pyrin domain containing 3							61	62	62					1																	247587856		2203	4300	6503	SO:0001583	missense	114548				detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding	g.chr1:247587856C>A	AF054176	CCDS1632.1, CCDS1633.1, CCDS44346.1, CCDS44347.1	1q44	2014-09-17	2006-12-08	2006-12-08	ENSG00000162711	ENSG00000162711		"Nucleotide-binding domain and leucine rich repeat containing"	16400	protein-coding gene	gene with protein product	"Cryopyrin", "nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 3"	606416	"cold autoinflammatory syndrome 1"	C1orf7, CIAS1		10741953	Standard	NM_183395		Approved	AGTAVPRL, AII, AVP, FCAS, FCU, NALP3, PYPAF1, MWS, CLR1.1	uc001icr.3	Q96P20	OTTHUMG00000040647	ENST00000336119.3:c.1111C>A	1.37:g.247587856C>A	ENSP00000337383:p.Leu371Met					NLRP3_ENST00000391828.3_Missense_Mutation_p.L371M|NLRP3_ENST00000366496.2_Missense_Mutation_p.L371M|NLRP3_ENST00000391827.2_Missense_Mutation_p.L371M|NLRP3_ENST00000336119.3_Missense_Mutation_p.L371M|NLRP3_ENST00000348069.2_Missense_Mutation_p.L371M|NLRP3_ENST00000474792.1_3'UTR	p.L371M	NM_001127461.2	NP_001120933.1	Q96P20	NALP3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0141)		4	1891	+	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	371			NACHT.		B2RC97|B7ZKS9|B7ZKT2|B7ZKT3|O75434|Q17RS2|Q59H68|Q5JQS8|Q5JQS9|Q6TG35|Q8TCW0|Q8TEU9|Q8WXH9	Missense_Mutation	SNP	ENST00000336119.3	37	c.1111C>A	CCDS1632.1	.	.	.	.	.	.	.	.	.	.	C	13.54	2.267702	0.40095	.	.	ENSG00000162711	ENST00000391828;ENST00000366497;ENST00000336119;ENST00000348069;ENST00000366496;ENST00000391827	T;T;T;T;T;T	0.81247	-1.47;-1.47;-1.47;-1.47;-1.47;-1.47	3.84	1.92	0.25849	NACHT nucleoside triphosphatase (1);	0.186157	0.26535	N	0.023835	D	0.83298	0.5224	L	0.54323	1.7	0.28452	N	0.916304	D;D;D;D;D	0.89917	1.0;0.994;1.0;0.999;0.998	D;D;D;D;D	0.91635	0.995;0.945;0.999;0.988;0.996	T	0.73183	-0.4063	10	0.48119	T	0.1	.	5.1247	0.14878	0.0:0.6704:0.2138:0.1158	.	371;371;371;371;371	B7ZKS9;Q96P20-4;Q96P20-2;Q96P20-5;Q96P20	.;.;.;.;NALP3_HUMAN	M	371	ENSP00000375704:L371M;ENSP00000355453:L371M;ENSP00000337383:L371M;ENSP00000294752:L371M;ENSP00000355452:L371M;ENSP00000375703:L371M	ENSP00000337383:L371M	L	+	1	2	NLRP3	245654479	0.023000	0.18921	1.000000	0.80357	0.721000	0.41392	0.243000	0.18106	0.570000	0.29347	0.563000	0.77884	CTG		0.547	NLRP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097740.1	NM_004895		58	129	1	0	1.4709e-25	1	1.65631e-25	58	129					A	247587856	C	A	247587856	3	1	26	1	0	0	0	0	1	0	0	0	10478	680	24	5	1121	5	NLRP3	1	247587856	Missense_Mutation	SNP	C	TCGA-CH-5754-01A-11D-1576-08	29983251	247587856	1662765	13	1145											
SNRNP200	23020	broad.mit.edu	37	chr2	96970455	96970455	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcactcacttggctcttcttTcctcctgcatctgcggtttg	3	16	8	14	1	4	0	1	0	3	0	6	0	6	0	2	2	2	4	2	2	0	4			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr2:96970455T>G	ENST00000323853.5	-	2	274	c.197A>C	c.(196-198)gAa>gCa	p.E66A	AC021188.4_ENST00000421534.1_RNA|SNRNP200_ENST00000349783.5_Missense_Mutation_p.E66A	NM_014014.4	NP_054733.2	O75643	U520_HUMAN	small nuclear ribonucleoprotein 200kDa (U5)	66					ATP catabolic process (GO:0006200)|cis assembly of pre-catalytic spliceosome (GO:0000354)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|osteoblast differentiation (GO:0001649)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U5 snRNP (GO:0005682)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|ATP-dependent RNA helicase activity (GO:0004004)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)	p.E66A(1)		breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|lung(37)|ovary(7)|prostate(4)|skin(5)|stomach(1)|urinary_tract(1)	90						GGCTCTTCTTTCCTCCTGCAT	0.517																																						ENST00000323853.5																			1	Substitution - Missense(1)	p.E66A(1)	prostate(1)	breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|lung(37)|ovary(7)|prostate(4)|skin(5)|stomach(1)|urinary_tract(1)	90						c.(196-198)gAa>gCa		small nuclear ribonucleoprotein 200kDa (U5)							133	118	123					2																	96970455		2203	4300	6503	SO:0001583	missense	23020					catalytic step 2 spliceosome|nucleoplasm|U5 snRNP	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding	g.chr2:96970455T>G	AL831994	CCDS2020.1	2q11.2	2013-05-13	2008-10-29	2008-10-29	ENSG00000144028	ENSG00000144028			30859	protein-coding gene	gene with protein product	"U5 snRNP specific protein, 200 KD"	601664	"activating signal cointegrator 1 complex subunit 3-like 1", "retinitis pigmentosa 33 (autosomal dominant)"	ASCC3L1, RP33		9872452, 8670905, 9774689, 9539711, 16612614, 19878916	Standard	NM_014014		Approved	U5-200KD, HELIC2, KIAA0788, BRR2	uc002svu.3	O75643	OTTHUMG00000130455	ENST00000323853.5:c.197A>C	2.37:g.96970455T>G	ENSP00000317123:p.Glu66Ala					SNRNP200_ENST00000349783.5_Missense_Mutation_p.E66A	p.E66A	NM_014014.4	NP_054733.2	O75643	U520_HUMAN			2	274	-			66					O94884|Q6NZY0|Q6PX59|Q8NBE6|Q96IF2|Q9H7S0	Missense_Mutation	SNP	ENST00000323853.5	37	c.197A>C	CCDS2020.1	.	.	.	.	.	.	.	.	.	.	T	17.47	3.398002	0.62177	.	.	ENSG00000144028	ENST00000323853;ENST00000349783	T;T	0.42900	0.96;0.96	5.64	5.64	0.86602	.	0.050799	0.85682	D	0.000000	T	0.40094	0.1103	L	0.51853	1.615	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.18587	-1.0332	10	0.48119	T	0.1	-11.2314	14.8359	0.70183	0.0:0.0:0.0:1.0	.	66	O75643	U520_HUMAN	A	66	ENSP00000317123:E66A;ENSP00000326937:E66A	ENSP00000317123:E66A	E	-	2	0	SNRNP200	96334182	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.568000	0.82369	2.147000	0.66899	0.460000	0.39030	GAA		0.517	SNRNP200-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252846.2	NM_014014		41	105	0	0	0	1	0	41	105					G	96970455	T	G	96970455	3	3	26	1	0	0	0	0	1	0	0	0	14852	1783	62	5	6389	5	SNRNP200	2	96970455	Missense_Mutation	SNP	T	TCGA-CH-5754-01A-11D-1576-08		96970455	146228918	14	1146											
SLC5A7	60482	broad.mit.edu	37	chr2	108614336	108614336	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cgatgtggatatgcacatttCtgtcatcatctctgcactca	9	14	7	11	1	5	0	3	0	2	0	6	2	5	1	0	1	2	2	0	1	1	2			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr2:108614336C>G	ENST00000264047.2	+	5	767	c.491C>G	c.(490-492)tCt>tGt	p.S164C	SLC5A7_ENST00000409059.1_Missense_Mutation_p.S164C|SLC5A7_ENST00000540517.1_Missense_Mutation_p.S59C	NM_021815.2	NP_068587.1	Q9GZV3	SC5A7_HUMAN	solute carrier family 5 (sodium/choline cotransporter), member 7	164					acetylcholine biosynthetic process (GO:0008292)|cell death (GO:0008219)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter secretion (GO:0007269)|synaptic transmission (GO:0007268)|synaptic transmission, cholinergic (GO:0007271)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	choline binding (GO:0033265)|choline transmembrane transporter activity (GO:0015220)|choline:sodium symporter activity (GO:0005307)	p.S164C(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	49					Choline(DB00122)	ATGCACATTTCTGTCATCATC	0.468																																						ENST00000264047.2																			1	Substitution - Missense(1)	p.S164C(1)	prostate(1)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						c.(490-492)tCt>tGt		solute carrier family 5 (sodium/choline cotransporter), member 7	Choline(DB00122)						343	297	312					2																	108614336		2203	4300	6503	SO:0001583	missense	60482				acetylcholine biosynthetic process|neurotransmitter secretion	integral to membrane|plasma membrane	choline:sodium symporter activity	g.chr2:108614336C>G	AF276871	CCDS2074.1	2q12	2013-07-19	2013-07-19		ENSG00000115665	ENSG00000115665		"Solute carriers"	14025	protein-coding gene	gene with protein product		608761	"solute carrier family 5 (choline transporter), member 7"			11027560	Standard	NM_021815		Approved	hCHT, CHT1	uc002tdv.3	Q9GZV3	OTTHUMG00000130959	ENST00000264047.2:c.491C>G	2.37:g.108614336C>G	ENSP00000264047:p.Ser164Cys					SLC5A7_ENST00000409059.1_Missense_Mutation_p.S164C|SLC5A7_ENST00000540517.1_Missense_Mutation_p.S59C	p.S164C	NM_021815.2	NP_068587.1	Q9GZV3	SC5A7_HUMAN			5	767	+			164					Q53TF2	Missense_Mutation	SNP	ENST00000264047.2	37	c.491C>G	CCDS2074.1	.	.	.	.	.	.	.	.	.	.	C	15.82	2.947545	0.53186	.	.	ENSG00000115665	ENST00000409059;ENST00000540517;ENST00000264047	D;D;D	0.89552	-2.53;-2.53;-2.53	5.24	5.24	0.73138	.	0.000000	0.85682	D	0.000000	D	0.90501	0.7024	L	0.53780	1.695	0.80722	D	1	B	0.31581	0.329	B	0.42798	0.398	D	0.90164	0.4230	10	0.66056	D	0.02	-26.8969	18.8187	0.92088	0.0:1.0:0.0:0.0	.	164	Q9GZV3	SC5A7_HUMAN	C	164;59;164	ENSP00000387346:S164C;ENSP00000445351:S59C;ENSP00000264047:S164C	ENSP00000264047:S164C	S	+	2	0	SLC5A7	107980768	1.000000	0.71417	0.922000	0.36590	0.153000	0.21895	7.818000	0.86416	2.451000	0.82905	0.655000	0.94253	TCT		0.468	SLC5A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253562.1			174	372	0	0	0	1	0	174	372					G	108614336	C	G	108614336	3	3	26	1	0	0	0	0	1	0	0	0	14670	913	32	5	505	5	SLC5A7	2	108614336	Missense_Mutation	SNP	C	TCGA-CH-5754-01A-11D-1576-08	11643881	108614336	134585037	15	1147											
SMARCAL1	50485	broad.mit.edu	37	chr2	217279676	217279676	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	agtagctcatctaatgctgaCcaaagacctcatgattccca	13	10	6	12	0	3	3	2	2	1	1	4	3	4	3	3	0	2	3	3	0	3	3			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr2:217279676C>G	ENST00000357276.4	+	3	579	c.249C>G	c.(247-249)gaC>gaG	p.D83E	AC098820.2_ENST00000457694.1_RNA|SMARCAL1_ENST00000358207.5_Missense_Mutation_p.D83E	NM_014140.3	NP_054859.2	Q9NZC9	SMAL1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1	83					cellular response to DNA damage stimulus (GO:0006974)|chromatin modification (GO:0016568)|DNA metabolic process (GO:0006259)|DNA strand renaturation (GO:0000733)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|replication fork processing (GO:0031297)	nucleus (GO:0005634)|site of double-strand break (GO:0035861)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)	p.D83E(1)		NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(10)|liver(1)|lung(15)|ovary(3)|prostate(1)|skin(1)	42		Renal(323;0.0458)		Epithelial(149;9.48e-06)|all cancers(144;0.000621)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0111)		CTAATGCTGACCAAAGACCTC	0.478									Schimke Immuno-Osseous Dysplasia																													ENST00000357276.4																			1	Substitution - Missense(1)	p.D83E(1)	prostate(1)	NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(10)|liver(1)|lung(15)|ovary(3)|prostate(1)|skin(1)	42						c.(247-249)gaC>gaG		SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1							66	69	68					2																	217279676		2203	4300	6503	SO:0001583	missense	50485	Schimke Immuno-Osseous Dysplasia	Familial Cancer Database	SIOD	chromatin modification|DNA metabolic process|regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity	g.chr2:217279676C>G	AF210833	CCDS2403.1	2q35	2014-09-17			ENSG00000138375	ENSG00000138375			11102	protein-coding gene	gene with protein product	"HepA-related protein", "ATP-driven annealing helicase"	606622				10713074, 10857751, 18974355	Standard	NM_014140		Approved	HHARP, HARP	uc002vgd.4	Q9NZC9	OTTHUMG00000133055	ENST00000357276.4:c.249C>G	2.37:g.217279676C>G	ENSP00000349823:p.Asp83Glu					SMARCAL1_ENST00000358207.5_Missense_Mutation_p.D83E	p.D83E	NM_014140.3	NP_054859.2	Q9NZC9	SMAL1_HUMAN		Epithelial(149;9.48e-06)|all cancers(144;0.000621)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0111)	3	579	+		Renal(323;0.0458)	83					A6NEH0|Q53R00|Q96AY1|Q9NXQ5|Q9UFH3|Q9UI93	Missense_Mutation	SNP	ENST00000357276.4	37	c.249C>G	CCDS2403.1	.	.	.	.	.	.	.	.	.	.	C	10.38	1.333060	0.24167	.	.	ENSG00000138375	ENST00000430374;ENST00000357276;ENST00000444508;ENST00000358207;ENST00000434435	T;T;T;T;T	0.24908	1.83;1.83;1.83;1.83;1.83	4.75	1.93	0.25924	.	0.820054	0.10944	N	0.616843	T	0.19248	0.0462	L	0.32530	0.975	0.09310	N	1	B	0.23442	0.085	B	0.19666	0.026	T	0.22347	-1.0219	10	0.52906	T	0.07	-4.8712	8.1794	0.31302	0.0:0.6476:0.0:0.3524	.	83	Q9NZC9	SMAL1_HUMAN	E	83	ENSP00000405077:D83E;ENSP00000349823:D83E;ENSP00000398969:D83E;ENSP00000350940:D83E;ENSP00000402967:D83E	ENSP00000349823:D83E	D	+	3	2	SMARCAL1	216987921	0.302000	0.24454	0.727000	0.30756	0.785000	0.44390	0.294000	0.19047	0.219000	0.20840	0.563000	0.77884	GAC		0.478	SMARCAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256671.2			27	134	0	0	0	1	0	27	134					G	217279676	C	G	217279676	3	3	26	1	0	0	0	0	1	0	0	0	14773	506	18	5	251	5	SMARCAL1	2	217279676	Missense_Mutation	SNP	C	TCGA-CH-5754-01A-11D-1576-08	108665340	217279676	25919697	16	1148											
VIL1	7429	broad.mit.edu	37	chr2	219305571	219305571	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	agctccccgagggtgtggacCccagcaggaaggaggtaggt	9	5	17	10	1	0	0	0	0	0	0	1	4	1	3	4	6	2	3	4	6	2	1			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr2:219305571C>T	ENST00000248444.5	+	19	2444	c.2356C>T	c.(2356-2358)Ccc>Tcc	p.P786S	VIL1_ENST00000392114.2_Missense_Mutation_p.P475S	NM_007127.2	NP_009058.2	P09327	VILI_HUMAN	villin 1	786	HP. {ECO:0000255|PROSITE- ProRule:PRU00595}.|Headpiece.				actin filament capping (GO:0051693)|actin filament depolymerization (GO:0030042)|actin filament polymerization (GO:0030041)|actin filament severing (GO:0051014)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to hepatocyte growth factor stimulus (GO:0035729)|cytoplasmic actin-based contraction involved in cell motility (GO:0060327)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell differentiation (GO:0030855)|positive regulation of actin filament bundle assembly (GO:0032233)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell migration (GO:0010634)|protein complex assembly (GO:0006461)|regulation of actin nucleation (GO:0051125)|regulation of cell shape (GO:0008360)|regulation of lamellipodium morphogenesis (GO:2000392)|regulation of wound healing (GO:0061041)|response to bacterium (GO:0009617)	actin filament bundle (GO:0032432)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|filopodium tip (GO:0032433)|lamellipodium (GO:0030027)|microvillus (GO:0005902)|ruffle (GO:0001726)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|identical protein binding (GO:0042802)|lysophosphatidic acid binding (GO:0035727)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein homodimerization activity (GO:0042803)	p.P786S(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Renal(207;0.0474)		Epithelial(149;6.88e-07)|all cancers(144;0.00013)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GGGTGTGGACCCCAGCAGGAA	0.537																																						ENST00000248444.5																			1	Substitution - Missense(1)	p.P786S(1)	prostate(1)	NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						c.(2356-2358)Ccc>Tcc		villin 1							45	44	44					2																	219305571		2203	4300	6503	SO:0001583	missense	7429				actin filament capping|actin filament depolymerization|actin filament polymerization|actin filament severing|apoptosis|cellular response to epidermal growth factor stimulus|cytoplasmic actin-based contraction involved in cell motility|epidermal growth factor receptor signaling pathway|positive regulation of actin filament bundle assembly|positive regulation of epithelial cell migration|regulation of actin nucleation|regulation of cell shape|regulation of lamellipodium morphogenesis|regulation of wound healing|response to bacterium	actin filament bundle|cytoplasm|filopodium tip|intracellular membrane-bounded organelle|lamellipodium|microvillus|ruffle	actin filament binding|calcium ion binding|caspase inhibitor activity|lysophosphatidic acid binding|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity	g.chr2:219305571C>T	X12901	CCDS2417.1	2q35	2012-10-02			ENSG00000127831	ENSG00000127831			12690	protein-coding gene	gene with protein product		193040		VIL		2846586	Standard	NM_007127		Approved	D2S1471	uc002via.3	P09327	OTTHUMG00000133112	ENST00000248444.5:c.2356C>T	2.37:g.219305571C>T	ENSP00000248444:p.Pro786Ser					VIL1_ENST00000392114.2_Missense_Mutation_p.P475S	p.P786S	NM_007127.2	NP_009058.2	P09327	VILI_HUMAN		Epithelial(149;6.88e-07)|all cancers(144;0.00013)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	19	2444	+		Renal(207;0.0474)	786			HP.|Headpiece.		B2R9A7|Q53S11|Q96AC8	Missense_Mutation	SNP	ENST00000248444.5	37	c.2356C>T	CCDS2417.1	.	.	.	.	.	.	.	.	.	.	C	27.5	4.841492	0.91197	.	.	ENSG00000127831	ENST00000248444;ENST00000392114	T;T	0.14893	2.47;2.5	5.85	5.85	0.93711	Villin headpiece (3);	0.000000	0.85682	D	0.000000	T	0.42337	0.1198	M	0.76838	2.35	0.80722	D	1	D	0.58268	0.982	P	0.58454	0.839	T	0.14531	-1.0469	10	0.51188	T	0.08	-30.1042	20.1729	0.98161	0.0:1.0:0.0:0.0	.	786	P09327	VILI_HUMAN	S	786;475	ENSP00000248444:P786S;ENSP00000375962:P475S	ENSP00000248444:P786S	P	+	1	0	VIL1	219013815	1.000000	0.71417	1.000000	0.80357	0.807000	0.45602	7.536000	0.82023	2.775000	0.95449	0.603000	0.83216	CCC		0.537	VIL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256778.3	NM_007127		17	45	0	0	0	1	0	17	45					T	219305571	C	T	219305571	3	4	26	1	0	0	0	0	1	0	0	0	17161	623	22	3	2426	3	VIL1	2	219305571	Missense_Mutation	SNP	C	TCGA-CH-5754-01A-11D-1576-08	2025895	219305571	23893802	17	1149											
SPEG	10290	broad.mit.edu	37	chr2	220348803	220348803	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agtgatgctccgcagcccccCgcaccccagcctgcccaaga	8	4	9	20	2	0	2	0	1	0	1	1	2	1	2	8	0	4	3	8	0	1	0			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr2:220348803C>T	ENST00000312358.7	+	30	6750	c.6618C>T	c.(6616-6618)ccC>ccT	p.P2206P	AC053503.11_ENST00000429882.1_RNA|SPEG_ENST00000485813.1_3'UTR	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	2206	Pro-rich.				cardiac muscle cell development (GO:0055013)|in utero embryonic development (GO:0001701)|muscle organ development (GO:0007517)|negative regulation of cell proliferation (GO:0008285)|respiratory system development (GO:0060541)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.P2206P(2)		breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		CGCAGCCCCCCGCACCCCAGC	0.677																																						ENST00000312358.7																			2	Substitution - coding silent(2)	p.P2206P(2)	prostate(2)	breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100						c.(6616-6618)ccC>ccT		SPEG complex locus							30	41	37					2																	220348803		2023	4159	6182	SO:0001819	synonymous_variant	10290				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity	g.chr2:220348803C>T	BC006346	CCDS42824.1, CCDS54432.1	2q35	2013-01-11	2006-04-27	2006-04-27	ENSG00000072195	ENSG00000072195		"Immunoglobulin superfamily / I-set domain containing"	16901	protein-coding gene	gene with protein product		615950	"aortic preferentially expressed gene 1"	APEG1		8663449, 10973969	Standard	NM_005876		Approved	MGC12676, KIAA1297, SPEGalpha, SPEGbeta, BPEG	uc010fwg.3	Q15772	OTTHUMG00000058925	ENST00000312358.7:c.6618C>T	2.37:g.220348803C>T						SPEG_ENST00000485813.1_3'UTR|AC053503.11_ENST00000429882.1_RNA	p.P2206P	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)	30	6750	+		Renal(207;0.0183)	2206			Pro-rich.		A8K0G6|A8MRU0|Q27J74|Q695L1|Q6FGA6|Q6ZQW1|Q6ZTL8|Q9P2P9	Silent	SNP	ENST00000312358.7	37	c.6618C>T	CCDS42824.1																																																																																				0.677	SPEG-004	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130252.2	NM_005876		32	44	0	0	0	1	0	32	44					T	220348803	C	T	220348803	2	4	26	1	0	0	0	0	0	0	0	1	15035	639	23	2		2	SPEG	2	220348803	Silent	SNP	C	TCGA-CH-5754-01A-11D-1576-08	1043232	220348803	22850570	18	1150											
STAC	6769	broad.mit.edu	37	chr3	36524554	36524554	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	caccacaagtgcacagatggCctggcaccccagcggtgcat	10	5	11	15	1	0	1	0	0	0	1	0	1	0	1	4	3	3	3	4	3	1	0	rs145962483	byFrequency	TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr3:36524554C>T	ENST00000273183.3	+	3	759	c.459C>T	c.(457-459)ggC>ggT	p.G153G	STAC_ENST00000476388.1_3'UTR|STAC_ENST00000457375.2_Intron	NM_003149.1	NP_003140.1	Q99469	STAC_HUMAN	SH3 and cysteine rich domain	153					cellular response to heat (GO:0034605)|intracellular signal transduction (GO:0035556)|signal transduction (GO:0007165)	cytosol (GO:0005829)	metal ion binding (GO:0046872)	p.G153G(1)		endometrium(5)|large_intestine(9)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(5)	32						GCACAGATGGCCTGGCACCCC	0.562																																						ENST00000273183.3																			1	Substitution - coding silent(1)	p.G153G(1)	prostate(1)	endometrium(5)|large_intestine(9)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(5)	32						c.(457-459)ggC>ggT		SH3 and cysteine rich domain							84	69	74					3																	36524554		2203	4300	6503	SO:0001819	synonymous_variant	6769				intracellular signal transduction	cytoplasm|soluble fraction	metal ion binding	g.chr3:36524554C>T	D86640	CCDS2662.1	3p22.3	2007-06-08			ENSG00000144681	ENSG00000144681			11353	protein-coding gene	gene with protein product		602317	"src homology three (SH3) and cysteine rich domain"			8954993, 10393425	Standard	XM_006713308		Approved	STAC1	uc003cgh.1	Q99469	OTTHUMG00000130798	ENST00000273183.3:c.459C>T	3.37:g.36524554C>T						STAC_ENST00000457375.2_Intron|STAC_ENST00000476388.1_3'UTR	p.G153G	NM_003149.1	NP_003140.1	Q99469	STAC_HUMAN			3	759	+			153					B2R8S8	Silent	SNP	ENST00000273183.3	37	c.459C>T	CCDS2662.1																																																																																				0.562	STAC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253338.2	NM_003149		33	90	0	0	0	1	0	33	90					T	36524554	C	T	36524554	2	4	26	1	0	0	0	0	0	0	0	1	15238	726	26	3		3	STAC	3	36524554	Silent	SNP	C	TCGA-CH-5754-01A-11D-1576-08		36524554	161497876	19	1151											
SCN5A	6331	broad.mit.edu	37	chr3	38618225	38618225	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgctccaggagctcagcggtGttggtcatgtctgctgtgct	4	13	14	10	1	3	0	2	0	1	0	4	1	4	1	1	3	5	5	1	3	0	1			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr3:38618225G>A	ENST00000333535.4	-	19	3587	c.3438C>T	c.(3436-3438)aaC>aaT	p.N1146N	SCN5A_ENST00000451551.2_Silent_p.N1092N|SCN5A_ENST00000455624.2_Silent_p.N1145N|SCN5A_ENST00000423572.2_Silent_p.N1145N|SCN5A_ENST00000449557.2_Silent_p.N1092N|SCN5A_ENST00000414099.2_Silent_p.N1146N|SCN5A_ENST00000413689.1_Silent_p.N1146N|SCN5A_ENST00000443581.1_Silent_p.N1145N|SCN5A_ENST00000425664.1_Silent_p.N1146N|SCN5A_ENST00000450102.2_Silent_p.N1092N			Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	1146					AV node cell to bundle of His cell communication (GO:0086067)|brainstem development (GO:0003360)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cardiac muscle cell action potential involved in contraction (GO:0086002)|cardiac muscle contraction (GO:0060048)|cardiac ventricle development (GO:0003231)|cellular response to calcium ion (GO:0071277)|cerebellum development (GO:0021549)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane depolarization during SA node cell action potential (GO:0086046)|neuronal action potential (GO:0019228)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of action potential (GO:0045760)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of sodium ion transport (GO:0010765)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of sodium ion transmembrane transport (GO:1902305)|regulation of ventricular cardiac muscle cell membrane depolarization (GO:0060373)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|telencephalon development (GO:0021537)|ventricular cardiac muscle cell action potential (GO:0086005)	caveola (GO:0005901)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	ankyrin binding (GO:0030506)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|fibroblast growth factor binding (GO:0017134)|ion channel binding (GO:0044325)|nitric-oxide synthase binding (GO:0050998)|protein kinase binding (GO:0019901)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)|voltage-gated sodium channel activity (GO:0005248)|voltage-gated sodium channel activity involved in cardiac muscle cell action potential (GO:0086006)	p.N1146N(2)		NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Ajmaline(DB01426)|Aprindine(DB01429)|Benzonatate(DB00868)|Carbamazepine(DB00564)|Cinchocaine(DB00527)|Cocaine(DB00907)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lidocaine(DB00281)|Mexiletine(DB00379)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine barbiturate(DB01346)|Quinidine(DB00908)|Ranolazine(DB00243)|Riluzole(DB00740)|Tocainide(DB01056)|Valproic Acid(DB00313)|Verapamil(DB00661)|Zonisamide(DB00909)	GCTCAGCGGTGTTGGTCATGT	0.617																																						ENST00000413689.1																			2	Substitution - coding silent(2)	p.N1146N(2)	prostate(2)	NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107						c.(3436-3438)aaC>aaT		sodium channel, voltage-gated, type V, alpha subunit	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)						49	55	53					3																	38618225		2162	4271	6433	SO:0001819	synonymous_variant	6331				blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity	g.chr3:38618225G>A	AJ310893	CCDS46796.1, CCDS46797.1, CCDS46798.1, CCDS46799.1, CCDS54569.1, CCDS54570.1	3p21	2014-09-17	2007-01-23		ENSG00000183873	ENSG00000183873		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10593	protein-coding gene	gene with protein product	"long QT syndrome 3"	600163	"sodium channel, voltage-gated, type V, alpha (long QT syndrome 3)"	CMD1E		7842012, 15466643, 16382098	Standard	NM_198056		Approved	Nav1.5, LQT3, HB1, HBBD, PFHB1, IVF, HB2, HH1, SSS1, CDCD2, CMPD2, ICCD	uc021wvl.1	Q14524	OTTHUMG00000156166	ENST00000333535.4:c.3438C>T	3.37:g.38618225G>A						SCN5A_ENST00000425664.1_Silent_p.N1146N|SCN5A_ENST00000414099.2_Silent_p.N1146N|SCN5A_ENST00000455624.2_Silent_p.N1145N|SCN5A_ENST00000451551.2_Silent_p.N1092N|SCN5A_ENST00000333535.4_Silent_p.N1146N|SCN5A_ENST00000450102.2_Silent_p.N1092N|SCN5A_ENST00000449557.2_Silent_p.N1092N|SCN5A_ENST00000443581.1_Silent_p.N1145N|SCN5A_ENST00000423572.2_Silent_p.N1145N	p.N1146N	NM_001099404.1|NM_001160160.1	NP_001092874.1|NP_001153632.1	Q14524	SCN5A_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	19	3631	-	Medulloblastoma(35;0.163)		1146					A5H1P8|A6N922|A6N923|B2RTU0|E7ET19|E9PEF3|E9PEK2|E9PFW7|Q59H93|Q75RX9|Q75RY0|Q86UR3|Q8IZC9|Q96J69	Silent	SNP	ENST00000333535.4	37	c.3438C>T	CCDS46796.1																																																																																				0.617	SCN5A-014	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000377958.1	NM_198056		3	24	0	0	0	1	0	3	24					A	38618225	G	A	38618225	2	1	26	1	0	0	0	0	0	0	0	1	13922	1368	48	3		3	SCN5A	3	38618225	Silent	SNP	G	TCGA-CH-5754-01A-11D-1576-08	2093671	38618225	159404205	20	1152											
SCN11A	11280	broad.mit.edu	37	chr3	38946767	38946767	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgctcatcaaagtggtccaGtgatagattctgggacagtc	11	11	11	8	0	3	2	2	1	1	1	5	3	4	3	1	2	1	1	1	2	2	2			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr3:38946767G>T	ENST00000302328.3	-	11	1717	c.1519C>A	c.(1519-1521)Ctg>Atg	p.L507M	AC116038.1_ENST00000401122.1_RNA|SCN11A_ENST00000450244.1_Missense_Mutation_p.L507M|SCN11A_ENST00000444237.2_Missense_Mutation_p.L507M|SCN11A_ENST00000456224.3_Missense_Mutation_p.L507M	NM_014139.2	NP_054858.2	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	507					cell death (GO:0008219)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|regulation of sensory perception of pain (GO:0051930)|response to drug (GO:0042493)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	C-fiber (GO:0044299)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)	p.L507M(1)		NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)|Valproic Acid(DB00313)|Zonisamide(DB00909)	AAGTGGTCCAGTGATAGATTC	0.512																																						ENST00000302328.3																			1	Substitution - Missense(1)	p.L507M(1)	prostate(1)	NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119						c.(1519-1521)Ctg>Atg		sodium channel, voltage-gated, type XI, alpha subunit	Cocaine(DB00907)						254	228	237					3																	38946767		2203	4300	6503	SO:0001583	missense	11280				response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr3:38946767G>T	AF126739	CCDS33737.1	3p22.2	2012-02-26	2007-01-23		ENSG00000168356	ENSG00000168356		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10583	protein-coding gene	gene with protein product		604385	"sodium channel, voltage-gated, type XI, alpha polypeptide", "sodium channel, voltage-gated, type XII, alpha"	SCN12A		10444332, 16382098	Standard	NM_014139		Approved	Nav1.9, NaN, SNS-2	uc021wvy.1	Q9UI33	OTTHUMG00000048246	ENST00000302328.3:c.1519C>A	3.37:g.38946767G>T	ENSP00000307599:p.Leu507Met					SCN11A_ENST00000444237.2_Missense_Mutation_p.L507M|SCN11A_ENST00000456224.3_Missense_Mutation_p.L507M|SCN11A_ENST00000450244.1_Missense_Mutation_p.L507M	p.L507M	NM_014139.2	NP_054858.2	Q9UI33	SCNBA_HUMAN		Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	11	1717	-			507					A6NN05|C9JD48|C9JR31|Q68K15|Q8NDX3|Q9UHE0|Q9UHM0	Missense_Mutation	SNP	ENST00000302328.3	37	c.1519C>A	CCDS33737.1	.	.	.	.	.	.	.	.	.	.	G	1.166	-0.642321	0.03531	.	.	ENSG00000168356	ENST00000302328;ENST00000450244;ENST00000456224;ENST00000444237	D;D;D;D	0.96073	-3.9;-3.9;-3.85;-3.76	5.08	-3.09	0.05331	.	1004.730000	0.00357	N	0.000023	D	0.84115	0.5401	N	0.03224	-0.385	0.09310	N	1	B	0.16396	0.017	B	0.14023	0.01	T	0.82938	-0.0209	10	0.06099	T	0.92	.	3.5906	0.07987	0.0937:0.2735:0.3873:0.2456	.	507	Q9UI33	SCNBA_HUMAN	M	507	ENSP00000307599:L507M;ENSP00000400945:L507M;ENSP00000416757:L507M;ENSP00000408028:L507M	ENSP00000307599:L507M	L	-	1	2	SCN11A	38921771	0.000000	0.05858	0.044000	0.18714	0.826000	0.46750	-0.778000	0.04664	-0.329000	0.08527	-1.119000	0.02030	CTG		0.512	SCN11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109746.4	NM_014139		85	190	1	0	4.64247e-43	1	5.60442e-43	85	190					T	38946767	G	T	38946767	3	4	26	1	0	0	0	0	1	0	0	0	13913	1020	36	5	3920	5	SCN11A	3	38946767	Missense_Mutation	SNP	G	TCGA-CH-5754-01A-11D-1576-08	328542	38946767	159075663	21	1153											
GBE1	2632	broad.mit.edu	37	chr3	81695585	81695585	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tgatttggtaaccaaagctgGcatagtaagcatgctccatg	12	11	10	8	0	0	1	0	1	0	0	1	1	1	1	2	2	4	6	2	2	4	4			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr3:81695585G>A	ENST00000429644.2	-	6	1383	c.740C>T	c.(739-741)gCc>gTc	p.A247V	GBE1_ENST00000489715.1_Missense_Mutation_p.A206V	NM_000158.3	NP_000149	Q04446	GLGB_HUMAN	glucan (1,4-alpha-), branching enzyme 1	247					carbohydrate metabolic process (GO:0005975)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|glycogen metabolic process (GO:0005977)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	1,4-alpha-glucan branching enzyme activity (GO:0003844)|cation binding (GO:0043169)|hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)	p.A247V(2)		breast(1)|endometrium(5)|large_intestine(2)|lung(4)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Lung NSC(201;0.0117)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0654)|Epithelial(33;0.00305)|LUSC - Lung squamous cell carcinoma(29;0.00646)|BRCA - Breast invasive adenocarcinoma(55;0.00813)|Lung(72;0.0129)|KIRC - Kidney renal clear cell carcinoma(39;0.212)|Kidney(39;0.247)		ACCAAAGCTGGCATAGTAAGC	0.338									Glycogen Storage Disease, type IV																													ENST00000429644.2																			2	Substitution - Missense(2)	p.A247V(2)	prostate(2)	breast(1)|endometrium(5)|large_intestine(2)|lung(4)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						c.(739-741)gCc>gTc		glucan (1,4-alpha-), branching enzyme 1							109	105	107					3																	81695585		1863	4093	5956	SO:0001583	missense	2632	Glycogen Storage Disease, type IV	Familial Cancer Database	Andersen Disease, Brancher deficiency	glucose metabolic process|glycogen biosynthetic process	cytosol	1,4-alpha-glucan branching enzyme activity|cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds	g.chr3:81695585G>A		CCDS54612.1	3p12.2	2013-09-20	2008-08-01		ENSG00000114480	ENSG00000114480	2.4.1.18		4180	protein-coding gene	gene with protein product	"glycogen branching enzyme", "Andersen disease", "glycogen storage disease type IV"	607839				8463281	Standard	NM_000158		Approved		uc021xav.1	Q04446	OTTHUMG00000158978	ENST00000429644.2:c.740C>T	3.37:g.81695585G>A	ENSP00000410833:p.Ala247Val					GBE1_ENST00000489715.1_Missense_Mutation_p.A206V	p.A247V	NM_000158.3	NP_000149.3	Q04446	GLGB_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0654)|Epithelial(33;0.00305)|LUSC - Lung squamous cell carcinoma(29;0.00646)|BRCA - Breast invasive adenocarcinoma(55;0.00813)|Lung(72;0.0129)|KIRC - Kidney renal clear cell carcinoma(39;0.212)|Kidney(39;0.247)	6	1383	-		Lung NSC(201;0.0117)	247					B3KWV3|Q96EN0	Missense_Mutation	SNP	ENST00000429644.2	37	c.740C>T	CCDS54612.1	.	.	.	.	.	.	.	.	.	.	G	34	5.295629	0.95574	.	.	ENSG00000114480	ENST00000429644;ENST00000264326;ENST00000489715;ENST00000536832	D;D	0.86865	-2.18;-2.18	5.32	5.32	0.75619	Glycoside hydrolase, subgroup, catalytic domain (1);Glycosyl hydrolase, family 13, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.047752	0.85682	D	0.000000	D	0.95245	0.8458	M	0.92880	3.355	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.78314	0.969;0.991	D	0.95864	0.8885	10	0.87932	D	0	-15.2709	19.1879	0.93651	0.0:0.0:1.0:0.0	.	206;247	E9PGM4;Q04446	.;GLGB_HUMAN	V	247;298;206;10	ENSP00000410833:A247V;ENSP00000419638:A206V	ENSP00000264326:A298V	A	-	2	0	GBE1	81778275	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	9.263000	0.95617	2.767000	0.95098	0.655000	0.94253	GCC		0.338	GBE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352760.2			54	111	0	0	0	1	0	54	111					A	81695585	G	A	81695585	3	1	26	1	0	0	0	0	1	0	0	0	6270	1203	42	3	1412	3	GBE1	3	81695585	Missense_Mutation	SNP	G	TCGA-CH-5754-01A-11D-1576-08	42748818	81695585	116326845	22	1154											
DNAJC13	23317	broad.mit.edu	37	chr3	132198111	132198111	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agataggttgattctcttccTtaacaagttgatccttaata	12	16	6	7	0	1	3	0	2	1	1	4	3	3	3	2	1	1	2	2	1	5	8			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr3:132198111T>C	ENST00000260818.6	+	25	2998	c.2750T>C	c.(2749-2751)cTt>cCt	p.L917P		NM_015268.3	NP_056083.3	O75165	DJC13_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 13	917					osteoblast differentiation (GO:0001649)	extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)		p.L917P(1)|p.L300P(1)		breast(4)|endometrium(2)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|urinary_tract(1)	34						ATTCTCTTCCTTAACAAGTTG	0.303																																						ENST00000260818.6																			2	Substitution - Missense(2)	p.L917P(1)|p.L300P(1)	prostate(2)	breast(4)|endometrium(2)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|urinary_tract(1)	34						c.(2749-2751)cTt>cCt		DnaJ (Hsp40) homolog, subfamily C, member 13							121	106	111					3																	132198111		2202	4298	6500	SO:0001583	missense	23317						heat shock protein binding	g.chr3:132198111T>C	AB014578	CCDS33857.1	3q22.1	2011-09-02			ENSG00000138246	ENSG00000138246		"Heat shock proteins / DNAJ (HSP40)"	30343	protein-coding gene	gene with protein product		614334				12438707	Standard	NM_015268		Approved	RME8, KIAA0678	uc003eor.3	O75165	OTTHUMG00000159674	ENST00000260818.6:c.2750T>C	3.37:g.132198111T>C	ENSP00000260818:p.Leu917Pro						p.L917P	NM_015268.3	NP_056083.3	O75165	DJC13_HUMAN			25	2998	+			917					Q3L0T1|Q6PI82|Q6UJ77|Q6ZSW1|Q6ZUT5|Q86XG3|Q96DC1|Q9BWK9	Missense_Mutation	SNP	ENST00000260818.6	37	c.2750T>C	CCDS33857.1	.	.	.	.	.	.	.	.	.	.	T	26.9	4.784851	0.90282	.	.	ENSG00000138246	ENST00000260818	T	0.69175	-0.38	5.88	5.88	0.94601	Armadillo-like helical (1);Armadillo-type fold (1);	0.072211	0.56097	D	0.000024	T	0.67951	0.2948	L	0.54323	1.7	0.80722	D	1	D	0.56968	0.978	P	0.45913	0.497	T	0.72937	-0.4140	10	0.87932	D	0	.	16.275	0.82640	0.0:0.0:0.0:1.0	.	917	O75165	DJC13_HUMAN	P	917	ENSP00000260818:L917P	ENSP00000260818:L917P	L	+	2	0	DNAJC13	133680801	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.202000	0.77856	2.248000	0.74166	0.477000	0.44152	CTT		0.303	DNAJC13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356807.2	NM_015268		15	153	0	0	0	1	0	15	153					C	132198111	T	C	132198111	3	2	26	1	0	0	0	0	1	0	0	0	4632	1609	56	4	2844	4	DNAJC13	3	132198111	Missense_Mutation	SNP	T	TCGA-CH-5754-01A-11D-1576-08	50502526	132198111	65824319	23	1155											
CEP63	80254	broad.mit.edu	37	chr3	134264447	134264447	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggctcagcttgtcaatcggaAacagaaattagagtctgtgg	12	10	12	7	1	3	2	2	0	1	2	4	3	3	3	0	3	2	2	0	3	4	2			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr3:134264447A>C	ENST00000337090.3	+	7	748	c.575A>C	c.(574-576)aAa>aCa	p.K192T	CEP63_ENST00000383229.3_Missense_Mutation_p.K192T|CEP63_ENST00000606977.1_Missense_Mutation_p.K192T|CEP63_ENST00000332047.5_Missense_Mutation_p.K192T|CEP63_ENST00000513612.2_Missense_Mutation_p.K192T|CEP63_ENST00000354446.3_Missense_Mutation_p.K192T			Q96MT8	CEP63_HUMAN	centrosomal protein 63kDa	192					centriole replication (GO:0007099)|DNA damage checkpoint (GO:0000077)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|signal transduction in response to DNA damage (GO:0042770)|spindle assembly (GO:0051225)	centriole (GO:0005814)|centrosome (GO:0005813)|cytosol (GO:0005829)|spindle pole (GO:0000922)		p.K192T(1)		kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						GTCAATCGGAAACAGAAATTA	0.353																																						ENST00000337090.3																			1	Substitution - Missense(1)	p.K192T(1)	prostate(1)	kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						c.(574-576)aAa>aCa		centrosomal protein 63kDa							81	77	79					3																	134264447		2203	4300	6503	SO:0001583	missense	80254				cell division|DNA damage checkpoint|G2/M transition of mitotic cell cycle|mitosis|signal transduction in response to DNA damage|spindle assembly	centrosome|cytosol|spindle pole	protein binding	g.chr3:134264447A>C	AK056465	CCDS3086.1, CCDS43152.1, CCDS43153.1, CCDS43154.1	3q22.1	2014-02-20			ENSG00000182923	ENSG00000182923			25815	protein-coding gene	gene with protein product		614724				14654843, 24240477	Standard	NM_001042383		Approved	FLJ13386	uc003eqo.1	Q96MT8	OTTHUMG00000159725	ENST00000337090.3:c.575A>C	3.37:g.134264447A>C	ENSP00000336524:p.Lys192Thr					CEP63_ENST00000383229.3_Missense_Mutation_p.K192T|CEP63_ENST00000354446.3_Missense_Mutation_p.K192T|CEP63_ENST00000332047.5_Missense_Mutation_p.K192T|CEP63_ENST00000606977.1_Missense_Mutation_p.K192T|CEP63_ENST00000513612.2_Missense_Mutation_p.K192T	p.K192T			Q96MT8	CEP63_HUMAN			7	748	+			192					D3DND8|D3DND9|D3DNE0|Q96CR0|Q9H8F5|Q9H8N0	Missense_Mutation	SNP	ENST00000337090.3	37	c.575A>C	CCDS3086.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	19.45|19.45	3.830751|3.830751	0.71258|0.71258	.|.	.|.	ENSG00000182923|ENSG00000182923	ENST00000332047;ENST00000354446;ENST00000337090;ENST00000383229;ENST00000513612|ENST00000508778	T;T;T;T;T|.	0.37915|.	1.88;1.6;1.85;1.17;1.85|.	6.1|6.1	4.88|4.88	0.63580|0.63580	.|.	0.113557|.	0.64402|.	D|.	0.000010|.	T|T	0.72843|0.72843	0.3511|0.3511	M|M	0.73962|0.73962	2.25|2.25	0.40473|0.40473	D|D	0.980367|0.980367	D;P;D;P|.	0.89917|.	1.0;0.811;0.958;0.75|.	D;P;B;B|.	0.87578|.	0.998;0.455;0.425;0.232|.	T|T	0.74559|0.74559	-0.3625|-0.3625	10|5	0.40728|.	T|.	0.16|.	-23.0395|-23.0395	13.1444|13.1444	0.59452|0.59452	0.8669:0.1331:0.0:0.0|0.8669:0.1331:0.0:0.0	.|.	192;192;192;192|.	Q96MT8;Q96MT8-2;Q96MT8-4;Q96MT8-3|.	CEP63_HUMAN;.;.;.|.	T|H	192|98	ENSP00000328382:K192T;ENSP00000346432:K192T;ENSP00000336524:K192T;ENSP00000372716:K192T;ENSP00000426129:K192T|.	ENSP00000328382:K192T|.	K|N	+|+	2|1	0|0	CEP63|CEP63	135747137|135747137	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.989000|0.989000	0.77384|0.77384	4.588000|4.588000	0.60999|0.60999	2.340000|2.340000	0.79590|0.79590	0.528000|0.528000	0.53228|0.53228	AAA|AAC		0.353	CEP63-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000470139.1	NM_025180		34	119	0	0	0	1	0	34	119					C	134264447	A	C	134264447	3	2	26	1	0	0	0	0	1	0	0	0	3257	14	1	5	597	5	CEP63	3	134264447	Missense_Mutation	SNP	A	TCGA-CH-5754-01A-11D-1576-08	2066336	134264447	63757983	24	1156											
IGSF10	285313	broad.mit.edu	37	chr3	151161667	151161667	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctgtttcctcttagataaatCaagtcctgagaagaaaaaaa	17	11	6	7	0	2	3	1	1	1	3	4	4	4	3	2	0	0	1	2	0	8	3			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr3:151161667C>G	ENST00000282466.3	-	5	5067	c.5068G>C	c.(5068-5070)Gat>Cat	p.D1690H		NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	1690	Ig-like C2-type 3.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)	extracellular region (GO:0005576)		p.D1690H(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			TTAGATAAATCAAGTCCTGAG	0.398																																						ENST00000282466.3																			1	Substitution - Missense(1)	p.D1690H(1)	prostate(1)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116						c.(5068-5070)Gat>Cat		immunoglobulin superfamily, member 10							34	33	33					3																	151161667		2203	4300	6503	SO:0001583	missense	285313				cell differentiation|multicellular organismal development|ossification	extracellular region		g.chr3:151161667C>G	AY273815	CCDS3160.1	3q25.1	2013-01-11			ENSG00000152580	ENSG00000152580		"Immunoglobulin superfamily / I-set domain containing"	26384	protein-coding gene	gene with protein product						12477932	Standard	NM_178822		Approved	FLJ25972, CMF608	uc011bod.2	Q6WRI0	OTTHUMG00000159856	ENST00000282466.3:c.5068G>C	3.37:g.151161667C>G	ENSP00000282466:p.Asp1690His						p.D1690H	NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)		5	5067	-			1690			Ig-like C2-type 3.		Q86YJ9|Q8N772|Q8NA84	Missense_Mutation	SNP	ENST00000282466.3	37	c.5068G>C	CCDS3160.1	.	.	.	.	.	.	.	.	.	.	C	13.95	2.390618	0.42410	.	.	ENSG00000152580	ENST00000282466;ENST00000544042	T	0.68479	-0.33	5.25	4.36	0.52297	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.654694	0.13322	N	0.396619	T	0.66934	0.2840	L	0.28649	0.875	0.09310	N	1	P	0.52316	0.952	P	0.57776	0.827	T	0.55554	-0.8123	9	.	.	.	.	10.4078	0.44274	0.0:0.9077:0.0:0.0923	.	1690	Q6WRI0	IGS10_HUMAN	H	1690;317	ENSP00000282466:D1690H	.	D	-	1	0	IGSF10	152644357	0.073000	0.21202	0.980000	0.43619	0.967000	0.64934	1.982000	0.40638	2.458000	0.83093	0.585000	0.79938	GAT		0.398	IGSF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357782.1	NM_178822		24	96	0	0	0	1	0	24	96					G	151161667	C	G	151161667	3	3	26	1	0	0	0	0	1	0	0	0	7597	826	29	5	2859	5	IGSF10	3	151161667	Missense_Mutation	SNP	C	TCGA-CH-5754-01A-11D-1576-08	16897220	151161667	46860763	25	1157											
PSMD2	5708	broad.mit.edu	37	chr3	184026525	184026525	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggtgggccaggctggcaaGccgaagactatcacagggtt	9	7	16	9	1	1	1	1	0	0	1	1	2	1	1	2	5	1	3	2	5	3	2			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr3:184026525G>C	ENST00000310118.4	+	21	3132	c.2574G>C	c.(2572-2574)aaG>aaC	p.K858N	EIF2B5_ENST00000444495.1_Intron|PSMD2_ENST00000439383.1_Missense_Mutation_p.K728N|PSMD2_ENST00000435761.1_Missense_Mutation_p.K699N	NM_002808.3	NP_002799.3	Q13200	PSMD2_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 2	858					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of protein catabolic process (GO:0042176)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)|proteasome regulatory particle (GO:0005838)	enzyme regulator activity (GO:0030234)	p.K858N(1)		breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|liver(1)|lung(12)|prostate(3)|upper_aerodigestive_tract(2)	27	all_cancers(143;1.54e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		Bortezomib(DB00188)	AGGCTGGCAAGCCGAAGACTA	0.547											OREG0015948	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									Colon(24;313 636 6917 9932 15554)	ENST00000310118.4																			1	Substitution - Missense(1)	p.K858N(1)	prostate(1)	breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|liver(1)|lung(12)|prostate(3)|upper_aerodigestive_tract(2)	27						c.(2572-2574)aaG>aaC		proteasome (prosome, macropain) 26S subunit, non-ATPase, 2	Bortezomib(DB00188)						76	82	80					3																	184026525		2203	4300	6503	SO:0001583	missense	5708				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of protein catabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome regulatory particle	enzyme regulator activity|protein binding	g.chr3:184026525G>C	AK095245	CCDS3258.1, CCDS63853.1, CCDS63854.1	3q27.3	2008-05-22			ENSG00000175166	ENSG00000175166		"Proteasome (prosome, macropain) subunits"	9559	protein-coding gene	gene with protein product		606223				8774743	Standard	NM_002808		Approved	S2, P97, TRAP2, MGC14274, Rpn1	uc003fnn.1	Q13200	OTTHUMG00000156796	ENST00000310118.4:c.2574G>C	3.37:g.184026525G>C	ENSP00000310129:p.Lys858Asn		OREG0015948	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1989	PSMD2_ENST00000439383.1_Missense_Mutation_p.K728N|PSMD2_ENST00000435761.1_Missense_Mutation_p.K699N|EIF2B5_ENST00000444495.1_Intron	p.K858N	NM_002808.3	NP_002799.3	Q13200	PSMD2_HUMAN	Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		21	3132	+	all_cancers(143;1.54e-10)|Ovarian(172;0.0339)		858					B4DX07|B4DXY1|E7EW34|E9PCS3|Q12932|Q15321|Q53XQ4|Q96I12	Missense_Mutation	SNP	ENST00000310118.4	37	c.2574G>C	CCDS3258.1	.	.	.	.	.	.	.	.	.	.	G	11.17	1.560141	0.27827	.	.	ENSG00000175166	ENST00000310118;ENST00000358216;ENST00000538096;ENST00000435761;ENST00000439383	T;T;T	0.46451	0.87;0.87;0.87	5.72	3.95	0.45737	.	0.096682	0.64402	D	0.000002	T	0.61110	0.2321	M	0.72479	2.2	0.58432	D	0.999992	B;D	0.57899	0.042;0.981	B;D	0.69824	0.037;0.966	T	0.63225	-0.6685	10	0.72032	D	0.01	-25.7426	12.0362	0.53427	0.1402:0.0:0.8598:0.0	.	699;858	E9PCS3;Q13200	.;PSMD2_HUMAN	N	858;530;850;699;728	ENSP00000310129:K858N;ENSP00000402618:K699N;ENSP00000416028:K728N	ENSP00000310129:K858N	K	+	3	2	PSMD2	185509219	1.000000	0.71417	0.997000	0.53966	0.465000	0.32709	2.314000	0.43743	0.775000	0.33450	-0.136000	0.14681	AAG		0.547	PSMD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345843.1	NM_002808		31	106	0	0	0	1	0	31	106					C	184026525	G	C	184026525	3	2	26	1	0	0	0	0	1	0	0	0	12698	962	34	5	2656	5	PSMD2	3	184026525	Missense_Mutation	SNP	G	TCGA-CH-5754-01A-11D-1576-08	32864858	184026525	13995905	26	1158											
MASP1	5648	broad.mit.edu	37	chr3	186971086	186971086	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccacagaaaggccccaaaacTtttggaccaactttgatctg	13	9	7	12	0	1	2	0	1	1	1	1	3	1	3	4	2	2	0	4	2	4	3			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr3:186971086T>G	ENST00000337774.5	-	6	1151	c.762A>C	c.(760-762)aaA>aaC	p.K254N	MASP1_ENST00000495249.1_Intron|MASP1_ENST00000169293.6_Missense_Mutation_p.K254N|MASP1_ENST00000392470.2_Missense_Mutation_p.K228N|MASP1_ENST00000296280.6_Missense_Mutation_p.K254N|MASP1_ENST00000392472.2_Missense_Mutation_p.K141N	NM_001879.5	NP_001870.3	P48740	MASP1_HUMAN	mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor)	254	CUB 2. {ECO:0000255|PROSITE- ProRule:PRU00059}.|Interaction with FCN2.				complement activation (GO:0006956)|complement activation, lectin pathway (GO:0001867)|innate immune response (GO:0045087)|negative regulation of complement activation (GO:0045916)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	calcium ion binding (GO:0005509)|calcium-dependent protein binding (GO:0048306)|peptidase activity (GO:0008233)|protein homodimerization activity (GO:0042803)|serine-type endopeptidase activity (GO:0004252)	p.K254N(2)|p.K254K(2)		NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(27)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	60	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;3.49e-18)	GBM - Glioblastoma multiforme(93;0.0366)		GCCCCAAAACTTTTGGACCAA	0.498																																						ENST00000337774.5																			4	Substitution - Missense(2)|Substitution - coding silent(2)	p.K254N(2)|p.K254K(2)	large_intestine(2)|prostate(2)	NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(27)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	60						c.(760-762)aaA>aaC		mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor)							139	156	150					3																	186971086		2203	4300	6503	SO:0001583	missense	5648				complement activation, lectin pathway|negative regulation of complement activation|proteolysis	extracellular space	calcium ion binding|calcium-dependent protein binding|protein binding|protein homodimerization activity|serine-type endopeptidase activity	g.chr3:186971086T>G	D28593	CCDS33907.1, CCDS33908.1, CCDS33909.1	3q27-q28	2014-09-17	2005-08-17		ENSG00000127241	ENSG00000127241		"Serine peptidases / Serine peptidases"	6901	protein-coding gene	gene with protein product		600521	"mannan-binding lectin serine protease 1 (C4/C2 activating component of Ra-reactive factor)"	CRARF, PRSS5		8018603, 8240317	Standard	NR_033519		Approved	MASP	uc003fri.3	P48740	OTTHUMG00000156461	ENST00000337774.5:c.762A>C	3.37:g.186971086T>G	ENSP00000336792:p.Lys254Asn					MASP1_ENST00000296280.6_Missense_Mutation_p.K254N|MASP1_ENST00000392472.2_Missense_Mutation_p.K141N|MASP1_ENST00000392470.2_Missense_Mutation_p.K228N|MASP1_ENST00000169293.6_Missense_Mutation_p.K254N|MASP1_ENST00000495249.1_Intron	p.K254N	NM_001879.5	NP_001870.3	P48740	MASP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;3.49e-18)	GBM - Glioblastoma multiforme(93;0.0366)	6	1151	-	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		254			CUB 2.|Interaction with FCN2.		A8K542|A8K6M1|B4E2L7|O95570|Q68D21|Q8IUV8|Q96RS4|Q9UF09	Missense_Mutation	SNP	ENST00000337774.5	37	c.762A>C	CCDS33907.1	.	.	.	.	.	.	.	.	.	.	T	13.24	2.177640	0.38413	.	.	ENSG00000127241	ENST00000337774;ENST00000296280;ENST00000392472;ENST00000541896;ENST00000169293;ENST00000392470	T;T;T;T;T	0.28255	1.62;1.62;1.62;1.62;1.62	5.63	-7.61	0.01299	CUB (5);	0.412203	0.29537	N	0.011880	T	0.12860	0.0312	N	0.26092	0.79	0.09310	N	0.999999	B;B;B;B;B	0.18166	0.002;0.002;0.0;0.001;0.026	B;B;B;B;B	0.17433	0.003;0.007;0.004;0.004;0.018	T	0.05920	-1.0856	10	0.59425	D	0.04	.	2.6917	0.05122	0.4128:0.0662:0.2909:0.2301	.	228;254;141;254;254	F8W876;P48740-3;P48740-4;P48740-2;P48740	.;.;.;.;MASP1_HUMAN	N	254;254;141;141;254;228	ENSP00000336792:K254N;ENSP00000296280:K254N;ENSP00000376264:K141N;ENSP00000169293:K254N;ENSP00000376262:K228N	ENSP00000169293:K254N	K	-	3	2	MASP1	188453780	0.010000	0.17322	0.000000	0.03702	0.191000	0.23601	0.567000	0.23608	-0.934000	0.03733	-0.313000	0.08912	AAA		0.498	MASP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344262.1	NM_001879		159	436	0	0	0	1	0	159	436					G	186971086	T	G	186971086	3	3	26	1	0	0	0	0	1	0	0	0	9322	1606	56	5	2326	5	MASP1	3	186971086	Missense_Mutation	SNP	T	TCGA-CH-5754-01A-11D-1576-08	2944561	186971086	11051344	27	1159											
ATP13A3	79572	broad.mit.edu	37	chr3	194126843	194126843	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttccccaccgatccactgaCtcctaagaaaataagaaaaa	17	8	4	12	1	0	3	0	1	0	2	3	4	3	3	5	0	0	0	5	0	6	3			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr3:194126843C>T	ENST00000439040.1	-	33	4277	c.3486G>A	c.(3484-3486)gaG>gaA	p.E1162E	ATP13A3_ENST00000256031.4_Silent_p.E1162E			Q9H7F0	AT133_HUMAN	ATPase type 13A3	1162						integral component of membrane (GO:0016021)|membrane (GO:0016020)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)	p.E1162E(1)		NS(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	24	all_cancers(143;6.01e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	OV - Ovarian serous cystadenocarcinoma(49;3.83e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;5.98e-05)		GATCCACTGACTCCTAAGAAA	0.428																																						ENST00000439040.1																			1	Substitution - coding silent(1)	p.E1162E(1)	prostate(1)	NS(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	24						c.(3484-3486)gaG>gaA		ATPase type 13A3							68	65	66					3																	194126843		2009	4200	6209	SO:0001819	synonymous_variant	79572				ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding	g.chr3:194126843C>T	AJ306929	CCDS43187.1	3q29	2010-04-20			ENSG00000133657	ENSG00000133657		"ATPases / P-type"	24113	protein-coding gene	gene with protein product	"ATPase family homolog up regulated in senescence cells"	610232				11867234	Standard	NM_024524		Approved	AFURS1	uc003fty.4	Q9H7F0	OTTHUMG00000156034	ENST00000439040.1:c.3486G>A	3.37:g.194126843C>T						ATP13A3_ENST00000256031.4_Silent_p.E1162E	p.E1162E			Q9H7F0	AT133_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;3.83e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;5.98e-05)	33	4277	-	all_cancers(143;6.01e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	1162					Q8NC11|Q96KS1	Silent	SNP	ENST00000439040.1	37	c.3486G>A	CCDS43187.1	.	.	.	.	.	.	.	.	.	.	C	9.847	1.192735	0.21954	.	.	ENSG00000133657	ENST00000429136	.	.	.	5.79	1.95	0.26073	.	.	.	.	.	T	0.45498	0.1345	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.23297	-1.0192	4	.	.	.	-10.1752	3.1459	0.06472	0.1178:0.5561:0.1272:0.1988	.	.	.	.	I	98	.	.	V	-	1	0	ATP13A3	195608132	0.991000	0.36638	0.996000	0.52242	0.544000	0.35116	0.658000	0.24979	0.064000	0.16427	-0.157000	0.13467	GTC		0.428	ATP13A3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342799.2	NM_024524		14	133	0	0	0	1	0	14	133					T	194126843	C	T	194126843	2	4	26	1	0	0	0	0	0	0	0	1	1125	564	20	3		3	ATP13A3	3	194126843	Silent	SNP	C	TCGA-CH-5754-01A-11D-1576-08	7155757	194126843	3895587	28	1160											
NUP54	53371	broad.mit.edu	37	chr4	77036593	77036593	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagctttatatcttctagatCgtctttaatgatgctaatca	11	17	5	8	1	4	2	1	1	3	1	5	2	4	2	0	0	2	2	0	0	5	8			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr4:77036593C>A	ENST00000264883.3	-	12	1590	c.1450G>T	c.(1450-1452)Gat>Tat	p.D484Y	NUP54_ENST00000514987.1_Missense_Mutation_p.D436Y|NUP54_ENST00000342467.6_Missense_Mutation_p.D268Y|NUP54_ENST00000458189.2_Missense_Mutation_p.D304Y	NM_017426.2	NP_059122.2	Q7Z3B4	NUP54_HUMAN	nucleoporin 54kDa	484					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein targeting (GO:0006605)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)|nucleoplasm (GO:0005654)	nucleocytoplasmic transporter activity (GO:0005487)	p.D484Y(1)		cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(3)|skin(1)|stomach(1)	19						TCTTCTAGATCGTCTTTAATG	0.333																																						ENST00000264883.3																			1	Substitution - Missense(1)	p.D484Y(1)	prostate(1)	cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(3)|skin(1)|stomach(1)	19						c.(1450-1452)Gat>Tat		nucleoporin 54kDa							151	139	143					4																	77036593		2203	4300	6503	SO:0001583	missense	53371				carbohydrate metabolic process|glucose transport|mRNA transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytoplasm|nuclear membrane|nuclear pore|nucleoplasm		g.chr4:77036593C>A	AF157322	CCDS3576.1, CCDS63998.1	4q21.1	2008-07-03	2002-08-29		ENSG00000138750	ENSG00000138750			17359	protein-coding gene	gene with protein product		607607	"nucleoporin 54kD"			8707840	Standard	NM_017426		Approved		uc003hjs.3	Q7Z3B4	OTTHUMG00000130098	ENST00000264883.3:c.1450G>T	4.37:g.77036593C>A	ENSP00000264883:p.Asp484Tyr					NUP54_ENST00000458189.2_Missense_Mutation_p.D304Y|NUP54_ENST00000342467.6_Missense_Mutation_p.D268Y|NUP54_ENST00000514987.1_Missense_Mutation_p.D436Y	p.D484Y	NM_017426.2	NP_059122.2	Q7Z3B4	NUP54_HUMAN			12	1590	-			484					B2RCK7|B4DT35|Q96EA7|Q9NVL5|Q9P0I1	Missense_Mutation	SNP	ENST00000264883.3	37	c.1450G>T	CCDS3576.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.207673	0.79240	.	.	ENSG00000138750	ENST00000264883;ENST00000342467;ENST00000514987;ENST00000458189	.	.	.	6.04	6.04	0.98038	.	0.043908	0.85682	D	0.000000	T	0.76593	0.4009	M	0.66939	2.045	0.80722	D	1	D;D;D	0.89917	0.999;1.0;0.999	D;D;D	0.74348	0.95;0.983;0.945	T	0.77797	-0.2453	9	0.87932	D	0	-17.1458	13.7331	0.62802	0.0:0.9302:0.0:0.0698	.	436;268;484	B4DT35;Q7Z3B4-2;Q7Z3B4	.;.;NUP54_HUMAN	Y	484;268;436;304	.	ENSP00000264883:D484Y	D	-	1	0	NUP54	77255617	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	5.729000	0.68538	2.873000	0.98535	0.561000	0.74099	GAT		0.333	NUP54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252402.3			44	92	1	0	2.58029e-29	1	3.00659e-29	44	92					A	77036593	C	A	77036593	3	1	26	1	0	0	0	0	1	0	0	0	10767	884	31	5	77	5	NUP54	4	77036593	Missense_Mutation	SNP	C	TCGA-CH-5754-01A-11D-1576-08		77036593	114117683	29	1161											
FSTL5	56884	broad.mit.edu	37	chr4	162577600	162577600	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttgtcccacagttgctgcAgtgatgcttagtttctgatc	6	16	9	10	0	1	2	0	2	1	0	3	2	2	2	1	0	3	5	1	0	1	4			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr4:162577600A>G	ENST00000306100.5	-	7	1210	c.774T>C	c.(772-774)acT>acC	p.T258T	FSTL5_ENST00000379164.4_Silent_p.T257T|FSTL5_ENST00000536695.1_Silent_p.T257T|FSTL5_ENST00000427802.2_Silent_p.T257T|FSTL5_ENST00000511170.1_5'UTR	NM_001128427.2|NM_020116.4	NP_001121899.1|NP_064501.2	Q8N475	FSTL5_HUMAN	follistatin-like 5	258	Ig-like 1.					extracellular region (GO:0005576)	calcium ion binding (GO:0005509)	p.T258T(1)		central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		CAGTTGCTGCAGTGATGCTTA	0.398																																						ENST00000306100.5																			1	Substitution - coding silent(1)	p.T258T(1)	prostate(1)	central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91						c.(772-774)acT>acC		follistatin-like 5							100	92	95					4																	162577600		2203	4300	6503	SO:0001819	synonymous_variant	56884					extracellular region	calcium ion binding	g.chr4:162577600A>G	BC036502	CCDS3802.1, CCDS47157.1, CCDS47158.1	4q32.3	2013-01-11			ENSG00000168843	ENSG00000168843		"EF-hand domain containing", "Immunoglobulin superfamily / I-set domain containing"	21386	protein-coding gene	gene with protein product						10574462, 15527507	Standard	NM_020116		Approved	DKFZp566D234, KIAA1263	uc003iqh.4	Q8N475	OTTHUMG00000161397	ENST00000306100.5:c.774T>C	4.37:g.162577600A>G						FSTL5_ENST00000379164.4_Silent_p.T257T|FSTL5_ENST00000427802.2_Silent_p.T257T|FSTL5_ENST00000511170.1_5'UTR|FSTL5_ENST00000536695.1_Silent_p.T257T	p.T258T	NM_001128427.2|NM_020116.4	NP_001121899.1|NP_064501.2	Q8N475	FSTL5_HUMAN		COAD - Colon adenocarcinoma(41;0.179)	7	1210	-	all_hematologic(180;0.24)		258			Ig-like 1.		E9PCP6|Q9NSW7|Q9ULF7	Silent	SNP	ENST00000306100.5	37	c.774T>C	CCDS3802.1																																																																																				0.398	FSTL5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364773.2	NM_020116		18	88	0	0	0	1	0	18	88					G	162577600	A	G	162577600	2	3	26	1	0	0	0	0	0	0	0	1	6080	175	7	4		4	FSTL5	4	162577600	Silent	SNP	A	TCGA-CH-5754-01A-11D-1576-08	85541007	162577600	28576676	30	1162											
PCDHA1	56147	broad.mit.edu	37	chr5	140166478	140166478	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gaattgagaaaatatttggaTagagaagaaacaccagaact	20	8	9	4	0	0	4	0	1	0	4	0	8	0	5	1	1	2	0	1	1	8	4			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr5:140166478T>A	ENST00000504120.2	+	1	603	c.603T>A	c.(601-603)gaT>gaA	p.D201E	PCDHA1_ENST00000394633.3_Missense_Mutation_p.D201E|PCDHA1_ENST00000378133.3_Missense_Mutation_p.D201E	NM_018900.2	NP_061723.1	Q9Y5I3	PCDA1_HUMAN	protocadherin alpha 1	201	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.D201E(2)		breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3)	70			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AATATTTGGATAGAGAAGAAA	0.453																																						ENST00000504120.2																			2	Substitution - Missense(2)	p.D201E(2)	prostate(2)	breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3)	70						c.(601-603)gaT>gaA									71	77	75					5																	140166478		2203	4300	6503	SO:0001583	missense	0							g.chr5:140166478T>A	AF152479	CCDS54912.1, CCDS54913.1	5q31	2010-11-26				ENSG00000204970		"Cadherins / Protocadherins : Clustered"	8663	other	complex locus constituent	"KIAA0345-like 13"	606307				10380929	Standard	NM_018900		Approved			Q9Y5I3		ENST00000504120.2:c.603T>A	5.37:g.140166478T>A	ENSP00000420840:p.Asp201Glu					PCDHA1_ENST00000394633.3_Missense_Mutation_p.D201E|PCDHA1_ENST00000378133.3_Missense_Mutation_p.D201E	p.D201E	NM_018900.2	NP_061723.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	603	+								O75288|Q9NRT7	Missense_Mutation	SNP	ENST00000504120.2	37	c.603T>A	CCDS54913.1	.	.	.	.	.	.	.	.	.	.	t	17.94	3.510880	0.64522	.	.	ENSG00000204970	ENST00000504120;ENST00000394633;ENST00000378133	T;T;T	0.63255	-0.03;-0.03;-0.03	4.13	-1.51	0.08664	Cadherin (4);Cadherin-like (1);	0.000000	0.44902	U	0.000412	D	0.84969	0.5590	H	0.99435	4.565	0.26357	N	0.977109	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.85130	0.997;0.997;0.986	T	0.76594	-0.2902	10	0.87932	D	0	.	9.114	0.36746	0.0:0.685:0.0:0.315	.	201;201;201	Q9Y5I3;Q9Y5I3-2;Q9Y5I3-3	PCDA1_HUMAN;.;.	E	201	ENSP00000420840:D201E;ENSP00000378129:D201E;ENSP00000367373:D201E	ENSP00000367373:D201E	D	+	3	2	PCDHA1	140146662	0.185000	0.23213	0.460000	0.27093	0.995000	0.86356	0.297000	0.19101	-0.652000	0.05408	0.528000	0.53228	GAT		0.453	PCDHA1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000389127.1	NM_018900		11	121	0	0	0	1	0	11	121					A	140166478	T	A	140166478	3	1	26	1	0	0	0	0	1	0	0	0	11519	1403	49	5	605	5	PCDHA1	5	140166478	Missense_Mutation	SNP	T	TCGA-CH-5754-01A-11D-1576-08		140166478	40748782	31	1163											
PGBD1	84547	broad.mit.edu	37	chr6	28269738	28269738	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gtctgtgctccaatgctgtgGgcatagaaccagtcaatgag	10	10	12	9	0	2	2	1	1	1	1	3	2	3	2	2	1	3	3	2	1	4	1			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr6:28269738G>C	ENST00000405948.2	+	7	2527	c.2107G>C	c.(2107-2109)Ggc>Cgc	p.G703R	PGBD1_ENST00000259883.3_Missense_Mutation_p.G703R	NM_001184743.1|NM_032507.3	NP_001171672.1|NP_115896.1	Q96JS3	PGBD1_HUMAN	piggyBac transposable element derived 1	703						membrane (GO:0016020)|nucleus (GO:0005634)	scavenger receptor activity (GO:0005044)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.G703R(1)		endometrium(2)|kidney(2)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	41						CAATGCTGTGGGCATAGAACC	0.398																																						ENST00000405948.2																			1	Substitution - Missense(1)	p.G703R(1)	prostate(1)	endometrium(2)|kidney(2)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	41						c.(2107-2109)Ggc>Cgc		piggyBac transposable element derived 1							176	170	172					6																	28269738		2203	4300	6503	SO:0001583	missense	84547				viral reproduction	membrane|nucleus	scavenger receptor activity|sequence-specific DNA binding transcription factor activity	g.chr6:28269738G>C	D88259	CCDS4648.1	6p22.1	2013-01-09			ENSG00000137338	ENSG00000137338		"-"	19398	protein-coding gene	gene with protein product							Standard	NM_001184743		Approved	HUCEP-4, dJ874C20.4, SCAND4	uc003nkz.3	Q96JS3	OTTHUMG00000014520	ENST00000405948.2:c.2107G>C	6.37:g.28269738G>C	ENSP00000385213:p.Gly703Arg					PGBD1_ENST00000259883.3_Missense_Mutation_p.G703R	p.G703R	NM_001184743.1|NM_032507.3	NP_001171672.1|NP_115896.1	Q96JS3	PGBD1_HUMAN			7	2527	+			703					Q53F43|Q6NTF5|Q8WWS4	Missense_Mutation	SNP	ENST00000405948.2	37	c.2107G>C	CCDS4648.1	.	.	.	.	.	.	.	.	.	.	G	16.57	3.159802	0.57368	.	.	ENSG00000137338	ENST00000405948;ENST00000259883	T;T	0.16743	2.32;2.32	4.1	4.1	0.47936	.	0.282673	0.22302	N	0.061846	T	0.26304	0.0642	M	0.64997	1.995	0.32055	N	0.596426	D	0.76494	0.999	D	0.83275	0.996	T	0.01532	-1.1331	10	0.59425	D	0.04	-16.1538	12.0452	0.53475	0.0:0.0:1.0:0.0	.	703	Q96JS3	PGBD1_HUMAN	R	703	ENSP00000385213:G703R;ENSP00000259883:G703R	ENSP00000259883:G703R	G	+	1	0	PGBD1	28377717	0.998000	0.40836	0.994000	0.49952	0.929000	0.56500	3.053000	0.49901	2.286000	0.76751	0.591000	0.81541	GGC		0.398	PGBD1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040188.2			24	251	0	0	0	1	0	24	251					C	28269738	G	C	28269738	3	2	26	1	0	0	0	0	1	0	0	0	11780	1232	43	5	2129	5	PGBD1	6	28269738	Missense_Mutation	SNP	G	TCGA-CH-5754-01A-11D-1576-08		28269738	142845329	32	1164											
C6orf138	442213	broad.mit.edu	37	chr6	47976509	47976509	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagggcttactgcgcaagcaGtccttcatggagctggagag	10	8	14	9	1	1	1	1	0	0	1	2	3	2	2	1	3	4	4	1	3	3	2			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr6:47976509G>C	ENST00000339488.4	-	2	801	c.768C>G	c.(766-768)gaC>gaG	p.D256E	PTCHD4_ENST00000543600.1_Missense_Mutation_p.D239E	NM_001013732.3	NP_001013754.3	Q6ZW05	PTHD4_HUMAN	patched domain containing 4	256	SSD. {ECO:0000255|PROSITE- ProRule:PRU00199}.					integral component of membrane (GO:0016021)	hedgehog receptor activity (GO:0008158)	p.D256E(1)									TGCGCAAGCAGTCCTTCATGG	0.567																																						ENST00000543600.1																			1	Substitution - Missense(1)	p.D256E(1)	prostate(1)								c.(715-717)gaC>gaG		patched domain containing 4							62	63	63					6																	47976509		2035	4206	6241	SO:0001583	missense	442213					integral to membrane	hedgehog receptor activity	g.chr6:47976509G>C		CCDS34473.2	6p12.3	2012-02-06	2012-02-06	2012-02-06	ENSG00000244694	ENSG00000244694			21345	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 138"	C6orf138			Standard	NM_001013732		Approved	dJ402H5.2, FLJ41841	uc011dwm.2	Q6ZW05	OTTHUMG00000150404	ENST00000339488.4:c.768C>G	6.37:g.47976509G>C	ENSP00000341914:p.Asp256Glu					PTCHD4_ENST00000339488.4_Missense_Mutation_p.D256E	p.D239E			Q6ZW05	CF138_HUMAN			2	756	-			256			SSD.		B0QZ29|B4DRK3|Q5T884	Missense_Mutation	SNP	ENST00000339488.4	37	c.717C>G	CCDS34473.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.64|19.64	3.865476|3.865476	0.71949|0.71949	.|.	.|.	ENSG00000244694|ENSG00000244694	ENST00000339488;ENST00000543600|ENST00000398738	D;D|.	0.88277|.	-2.36;-2.36|.	6.16|6.16	3.45|3.45	0.39498|0.39498	Sterol-sensing domain (1);|.	0.046628|.	0.85682|.	N|.	0.000000|.	T|T	0.62122|0.62122	0.2402|0.2402	M|M	0.80183|0.80183	2.485|2.485	0.58432|0.58432	D|D	0.999994|0.999994	D;B|.	0.65815|.	0.995;0.003|.	D;B|.	0.64595|.	0.927;0.007|.	T|T	0.63409|0.63409	-0.6644|-0.6644	10|5	0.33940|.	T|.	0.23|.	.|.	9.9147|9.9147	0.41427|0.41427	0.1245:0.1152:0.7603:0.0|0.1245:0.1152:0.7603:0.0	.|.	256;239|.	Q6ZW05;B0QZ29|.	CF138_HUMAN;.|.	E|V	256;239|256	ENSP00000341914:D256E;ENSP00000439864:D239E|.	ENSP00000341914:D256E|.	D|L	-|-	3|1	2|2	C6orf138|C6orf138	48084468|48084468	1.000000|1.000000	0.71417|0.71417	0.993000|0.993000	0.49108|0.49108	0.985000|0.985000	0.73830|0.73830	6.456000|6.456000	0.73501|0.73501	0.488000|0.488000	0.27723|0.27723	-0.172000|-0.172000	0.13284|0.13284	GAC|CTG		0.567	PTCHD4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317987.2	NM_001013732		8	73	0	0	0	1	0	8	73					C	47976509	G	C	47976509	3	2	26	1	0	0	0	0	1	0	0	0	2332	1020	36	5	1780	5	C6orf138	6	47976509	Missense_Mutation	SNP	G	TCGA-CH-5754-01A-11D-1576-08	19706771	47976509	123138558	33	1165											
DST	667	broad.mit.edu	37	chr6	56341001	56341001	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atctcctgggggatgacttcTttatccttatcagtaagtgt	8	16	9	8	0	3	1	1	1	2	0	5	2	4	2	2	2	0	1	2	2	3	5			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr6:56341001T>C	ENST00000361203.3	-	87	20857	c.20850A>G	c.(20848-20850)aaA>aaG	p.K6950K	DST_ENST00000244364.6_Silent_p.K4647K|DST_ENST00000370769.4_Silent_p.K7061K|DST_ENST00000446842.2_Silent_p.K6735K|DST_ENST00000370788.2_Silent_p.K4864K|DST_ENST00000370754.5_Silent_p.K7239K|DST_ENST00000312431.6_3'UTR|DST_ENST00000421834.2_Silent_p.K4973K			Q03001	DYST_HUMAN	dystonin	6948					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)	p.K4647K(1)|p.K7061K(1)		NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			GGATGACTTCTTTATCCTTAT	0.423																																						ENST00000370754.5																			2	Substitution - coding silent(2)	p.K4647K(1)|p.K7061K(1)	prostate(2)	NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105						c.(21715-21717)aaA>aaG		dystonin							86	82	83					6																	56341001		1909	4121	6030	SO:0001819	synonymous_variant	667				cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity	g.chr6:56341001T>C	M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"EF-hand domain containing"	1090	protein-coding gene	gene with protein product		113810	"bullous pemphigoid antigen 1, 230/240kDa"	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000361203.3:c.20850A>G	6.37:g.56341001T>C						DST_ENST00000244364.6_Silent_p.K4647K|DST_ENST00000370788.2_Silent_p.K4864K|DST_ENST00000370769.4_Silent_p.K7061K|DST_ENST00000312431.6_3'UTR|DST_ENST00000361203.3_Silent_p.K6950K|DST_ENST00000446842.2_Silent_p.K6735K|DST_ENST00000421834.2_Silent_p.K4973K	p.K7239K			Q03001	DYST_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)		92	21716	-	Lung NSC(77;0.103)		7059			EF-hand 2.		B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Silent	SNP	ENST00000361203.3	37	c.21717A>G																																																																																					0.423	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000041021.3	NM_001723		7	43	0	0	0	1	0	7	43					C	56341001	T	C	56341001	2	2	26	1	0	0	0	0	0	0	0	1	4783	1606	56	4		4	DST	6	56341001	Silent	SNP	T	TCGA-CH-5754-01A-11D-1576-08	8364492	56341001	114774066	34	1166											
PARK2	5071	broad.mit.edu	37	chr6	161969991	161969991	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggcataacacgccccccatCtgcaggacacactcctctgc	9	6	8	18	1	2	0	0	0	2	0	3	1	3	1	4	2	3	2	4	2	1	1			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr6:161969991C>A	ENST00000366898.1	-	9	1080	c.978G>T	c.(976-978)caG>caT	p.Q326H	PARK2_ENST00000366892.1_Missense_Mutation_p.Q326H|PARK2_ENST00000366894.1_Missense_Mutation_p.Q135H|PARK2_ENST00000366897.1_Missense_Mutation_p.Q298H|PARK2_ENST00000366896.1_Missense_Mutation_p.Q177H|PARK2_ENST00000338468.3_Missense_Mutation_p.Q135H	NM_004562.2	NP_004553.2	O60260	PRKN2_HUMAN	parkin RBR E3 ubiquitin protein ligase	326					adult locomotory behavior (GO:0008344)|aggresome assembly (GO:0070842)|cell death (GO:0008219)|cellular protein catabolic process (GO:0044257)|cellular response to dopamine (GO:1903351)|cellular response to manganese ion (GO:0071287)|cellular response to toxic substance (GO:0097237)|cellular response to unfolded protein (GO:0034620)|central nervous system development (GO:0007417)|dopamine metabolic process (GO:0042417)|dopamine uptake involved in synaptic transmission (GO:0051583)|learning (GO:0007612)|mitochondrion degradation (GO:0000422)|negative regulation of actin filament bundle assembly (GO:0032232)|negative regulation of cell death (GO:0060548)|negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902236)|negative regulation of glucokinase activity (GO:0033132)|negative regulation of insulin secretion (GO:0046676)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of neuron death (GO:1901215)|negative regulation of oxidative stress-induced cell death (GO:1903202)|negative regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903377)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|norepinephrine metabolic process (GO:0042415)|positive regulation of DNA binding (GO:0043388)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of mitochondrial fusion (GO:0010636)|positive regulation of proteasomal protein catabolic process (GO:1901800)|positive regulation of protein linear polyubiquitination (GO:1902530)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor-mediated signaling pathway (GO:1903265)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein autoubiquitination (GO:0051865)|protein K27-linked ubiquitination (GO:0044314)|protein K29-linked ubiquitination (GO:0035519)|protein K48-linked ubiquitination (GO:0070936)|protein K6-linked ubiquitination (GO:0085020)|protein K63-linked ubiquitination (GO:0070534)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of autophagy (GO:0010506)|regulation of dopamine secretion (GO:0014059)|regulation of glucose metabolic process (GO:0010906)|regulation of lipid transport (GO:0032368)|regulation of mitochondrion degradation (GO:1903146)|regulation of mitochondrion organization (GO:0010821)|regulation of neurotransmitter secretion (GO:0046928)|regulation of reactive oxygen species metabolic process (GO:2000377)|regulation of synaptic vesicle transport (GO:1902803)|response to endoplasmic reticulum stress (GO:0034976)|startle response (GO:0001964)|synaptic transmission, glutamatergic (GO:0035249)|transcription, DNA-templated (GO:0006351)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|Lewy body (GO:0097413)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|Parkin-FBXW7-Cul1 ubiquitin ligase complex (GO:1990452)|perinuclear region of cytoplasm (GO:0048471)|ubiquitin ligase complex (GO:0000151)	chaperone binding (GO:0051087)|cullin family protein binding (GO:0097602)|F-box domain binding (GO:1990444)|G-protein coupled receptor binding (GO:0001664)|heat shock protein binding (GO:0031072)|Hsp70 protein binding (GO:0030544)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|ligase activity (GO:0016874)|PDZ domain binding (GO:0030165)|protein kinase binding (GO:0019901)|SH3 domain binding (GO:0017124)|ubiquitin binding (GO:0043130)|ubiquitin conjugating enzyme binding (GO:0031624)|ubiquitin protein ligase activity (GO:0061630)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|ubiquitin-specific protease binding (GO:1990381)|zinc ion binding (GO:0008270)	p.Q326H(1)		breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	39		all_cancers(1;8.13e-65)|all_epithelial(1;5.77e-64)|Colorectal(1;9.65e-15)|all_lung(1;1.66e-13)|Lung NSC(1;7.54e-11)|Melanoma(1;1.75e-09)|Breast(66;7.81e-05)|Ovarian(120;0.000981)|Prostate(117;0.0288)|Esophageal squamous(34;0.102)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0663)|all cancers(1;1.9e-63)|Epithelial(1;1.5e-59)|Colorectal(1;2.16e-23)|OV - Ovarian serous cystadenocarcinoma(65;3.53e-20)|COAD - Colon adenocarcinoma(1;2.11e-15)|STAD - Stomach adenocarcinoma(1;4.64e-07)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|READ - Rectum adenocarcinoma(1;2.95e-06)|GBM - Glioblastoma multiforme(2;7.23e-06)|Lung(1;0.00163)|KIRC - Kidney renal clear cell carcinoma(4;0.00371)|LUSC - Lung squamous cell carcinoma(1;0.00442)|Kidney(4;0.0046)		CGCCCCCCATCTGCAGGACAC	0.577																																						ENST00000366898.1																			1	Substitution - Missense(1)	p.Q326H(1)	prostate(1)	breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	39						c.(976-978)caG>caT		parkin RBR E3 ubiquitin protein ligase							68	60	63					6																	161969991		2203	4300	6503	SO:0001583	missense	5071				aggresome assembly|central nervous system development|mitochondrion degradation|negative regulation of actin filament bundle assembly|negative regulation of cell death|negative regulation of protein phosphorylation|negative regulation of release of cytochrome c from mitochondria|neuron death|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein autoubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein monoubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of autophagy|regulation of reactive oxygen species metabolic process	aggresome|cytosol|endoplasmic reticulum|Golgi apparatus|mitochondrion|nucleus|perinuclear region of cytoplasm	chaperone binding|PDZ domain binding|protein kinase binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr6:161969991C>A		CCDS5281.1, CCDS5282.1, CCDS5283.1	6q25.2-q27	2013-10-03	2013-10-03		ENSG00000185345	ENSG00000185345		"Parkinson disease"	8607	protein-coding gene	gene with protein product	"E3 ubiquitin ligase"	602544	"Parkinson disease (autosomal recessive, juvenile) 2, parkin", "parkinson protein 2, E3 ubiquitin protein ligase (parkin)"			9560156, 9570960	Standard	NM_004562		Approved	PDJ, AR-JP, parkin	uc003qtx.4	O60260	OTTHUMG00000015970	ENST00000366898.1:c.978G>T	6.37:g.161969991C>A	ENSP00000355865:p.Gln326His					PARK2_ENST00000366892.1_Missense_Mutation_p.Q326H|PARK2_ENST00000338468.3_Missense_Mutation_p.Q135H|PARK2_ENST00000366894.1_Missense_Mutation_p.Q135H|PARK2_ENST00000366896.1_Missense_Mutation_p.Q177H|PARK2_ENST00000366897.1_Missense_Mutation_p.Q298H	p.Q326H	NM_004562.2	NP_004553.2	O60260	PRKN2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;0.0663)|all cancers(1;1.9e-63)|Epithelial(1;1.5e-59)|Colorectal(1;2.16e-23)|OV - Ovarian serous cystadenocarcinoma(65;3.53e-20)|COAD - Colon adenocarcinoma(1;2.11e-15)|STAD - Stomach adenocarcinoma(1;4.64e-07)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|READ - Rectum adenocarcinoma(1;2.95e-06)|GBM - Glioblastoma multiforme(2;7.23e-06)|Lung(1;0.00163)|KIRC - Kidney renal clear cell carcinoma(4;0.00371)|LUSC - Lung squamous cell carcinoma(1;0.00442)|Kidney(4;0.0046)	9	1080	-		all_cancers(1;8.13e-65)|all_epithelial(1;5.77e-64)|Colorectal(1;9.65e-15)|all_lung(1;1.66e-13)|Lung NSC(1;7.54e-11)|Melanoma(1;1.75e-09)|Breast(66;7.81e-05)|Ovarian(120;0.000981)|Prostate(117;0.0288)|Esophageal squamous(34;0.102)	326					A3FG77|A8K975|D3JZW7|D3K2X0|Q5TFV8|Q5VVX4|Q6Q2I6|Q8NI41|Q8NI43|Q8NI44|Q8WW07	Missense_Mutation	SNP	ENST00000366898.1	37	c.978G>T	CCDS5281.1	.	.	.	.	.	.	.	.	.	.	C	14.29	2.492333	0.44352	.	.	ENSG00000185345	ENST00000366898;ENST00000366897;ENST00000366896;ENST00000366894;ENST00000338468;ENST00000392134;ENST00000366892	D;D;D;D;D;D	0.90133	-2.62;-2.62;-2.62;-2.62;-2.62;-2.62	5.72	1.24	0.21308	Zinc finger, C6HC-type (1);	0.217169	0.39615	N	0.001318	D	0.90501	0.7024	M	0.76002	2.32	0.30639	N	0.756641	B;D;B;B;B	0.67145	0.029;0.996;0.23;0.23;0.074	B;D;B;B;B	0.66979	0.032;0.948;0.142;0.142;0.079	D	0.85728	0.1329	10	0.66056	D	0.02	.	7.9271	0.29880	0.0:0.6567:0.1197:0.2237	.	345;177;298;326;135	O60260-5;Q5VVX3;Q5VVX4;O60260;Q8NI42	.;.;.;PRKN2_HUMAN;.	H	326;298;177;135;135;135;326	ENSP00000355865:Q326H;ENSP00000355863:Q298H;ENSP00000355862:Q177H;ENSP00000355860:Q135H;ENSP00000343589:Q135H;ENSP00000355858:Q326H	ENSP00000343589:Q135H	Q	-	3	2	PARK2	161889981	1.000000	0.71417	0.993000	0.49108	0.790000	0.44656	1.154000	0.31688	0.296000	0.22592	0.650000	0.86243	CAG		0.577	PARK2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042995.1			60	150	1	0	1.31726e-23	1	1.47094e-23	60	150					A	161969991	C	A	161969991	3	1	26	1	0	0	0	0	1	0	0	0	11449	912	32	5	435	5	PARK2	6	161969991	Missense_Mutation	SNP	C	TCGA-CH-5754-01A-11D-1576-08	105628990	161969991	9145076	35	1167											
OR2AE1	81392	broad.mit.edu	37	chr7	99474214	99474214	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcacggatgcccccaaccatGacatgacagccatcatcagt	12	7	7	15	1	3	2	3	2	0	0	3	3	3	3	4	1	3	0	4	1	1	0			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr7:99474214G>T	ENST00000316368.2	-	1	466	c.443C>A	c.(442-444)tCa>tAa	p.S148*		NM_001005276.1	NP_001005276.1	Q8NHA4	O2AE1_HUMAN	olfactory receptor, family 2, subfamily AE, member 1	148						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S148*(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|prostate(2)	11	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)					CCCCAACCATGACATGACAGC	0.502																																						ENST00000316368.2																			1	Substitution - Nonsense(1)	p.S148*(1)	prostate(1)	breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|prostate(2)	11						c.(442-444)tCa>tAa		olfactory receptor, family 2, subfamily AE, member 1							146	136	139					7																	99474214		2203	4300	6503	SO:0001587	stop_gained	81392				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr7:99474214G>T	AC011904	CCDS34696.1	7q22.1	2014-02-19	2002-02-28		ENSG00000244623	ENSG00000244623		"GPCR / Class A : Olfactory receptors"	15087	protein-coding gene	gene with protein product			"olfactory receptor, family 2, subfamily AE, member 2"	OR2AE2			Standard	NM_001005276		Approved		uc003usc.1	Q8NHA4	OTTHUMG00000156650	ENST00000316368.2:c.443C>A	7.37:g.99474214G>T	ENSP00000313936:p.Ser148*						p.S148*	NM_001005276.1	NP_001005276.1	Q8NHA4	O2AE1_HUMAN			1	466	-	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)		148					B2RPD2	Nonsense_Mutation	SNP	ENST00000316368.2	37	c.443C>A	CCDS34696.1	.	.	.	.	.	.	.	.	.	.	G	10.60	1.394837	0.25205	.	.	ENSG00000244623	ENST00000316368	.	.	.	3.49	3.49	0.39957	.	0.254751	0.20794	N	0.085575	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.2965	0.60301	0.0:0.0:1.0:0.0	.	.	.	.	X	148	.	ENSP00000313936:S148X	S	-	2	0	OR2AE1	99312150	0.112000	0.22096	0.019000	0.16419	0.079000	0.17450	1.926000	0.40084	2.252000	0.74401	0.390000	0.25778	TCA		0.502	OR2AE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345053.1			54	122	1	0	4.1673e-28	1	4.77281e-28	54	122					T	99474214	G	T	99474214	4	4	26	1	0	0	0	0	0	1	0	0	10983	1294	45	5	532	5	OR2AE1	7	99474214	Nonsense_Mutation	SNP	G	TCGA-CH-5754-01A-11D-1576-08		99474214	59664449	36	1168											
SERPINE1	5054	broad.mit.edu	37	chr7	100775170	100775170	+	Silent	SNP	T	T	C																															ccataggtatgatcagcaacTtgcttgggaaaggagccgtg																										TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr7:100775170T>C	ENST00000223095.4	+	4	677	c.520T>C	c.(520-522)Ttg>Ctg	p.L174L	SERPINE1_ENST00000445463.2_Silent_p.L159L	NM_000602.4	NP_000593.1	P05121	PAI1_HUMAN	serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1	174					angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cellular response to lipopolysaccharide (GO:0071222)|chronological cell aging (GO:0001300)|defense response to Gram-negative bacterium (GO:0050829)|extracellular matrix organization (GO:0030198)|fibrinolysis (GO:0042730)|gene expression (GO:0010467)|negative regulation of blood coagulation (GO:0030195)|negative regulation of cell adhesion mediated by integrin (GO:0033629)|negative regulation of cell migration (GO:0030336)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of fibrinolysis (GO:0051918)|negative regulation of plasminogen activation (GO:0010757)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of smooth muscle cell-matrix adhesion (GO:2000098)|negative regulation of vascular wound healing (GO:0061044)|negative regulation of wound healing (GO:0061045)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood coagulation (GO:0030194)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of leukotriene production involved in inflammatory response (GO:0035491)|positive regulation of monocyte chemotaxis (GO:0090026)|positive regulation of receptor-mediated endocytosis (GO:0048260)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell proliferation (GO:0042127)|regulation of receptor activity (GO:0010469)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	protease binding (GO:0002020)|serine-type endopeptidase inhibitor activity (GO:0004867)	p.L174L(1)		central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(3)	20	Lung NSC(181;0.136)|all_lung(186;0.182)				Alteplase(DB00009)|Anistreplase(DB00029)|Drotrecogin alfa(DB00055)|Reteplase(DB00015)|Tenecteplase(DB00031)|Urokinase(DB00013)	GATCAGCAACTTGCTTGGGAA	0.493																																						ENST00000223095.4																			1	Substitution - coding silent(1)	p.L174L(1)	prostate(1)	central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(3)	20						c.(520-522)Ttg>Ctg		serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1	Atorvastatin(DB01076)|Dimethyl sulfoxide(DB01093)|Drotrecogin alfa(DB00055)|Simvastatin(DB00641)|Tenecteplase(DB00031)|Troglitazone(DB00197)|Urokinase(DB00013)						128	129	129					7																	100775170		2203	4300	6503	SO:0001819	synonymous_variant	5054				angiogenesis|cellular response to chemical stimulus|cellular response to lipopolysaccharide|chronological cell aging|defense response to Gram-negative bacterium|fibrinolysis|negative regulation of apoptosis|negative regulation of cell adhesion mediated by integrin|negative regulation of fibrinolysis|negative regulation of plasminogen activation|negative regulation of smooth muscle cell migration|negative regulation of smooth muscle cell-matrix adhesion|negative regulation of vascular wound healing|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of interleukin-8 production|positive regulation of leukotriene production involved in inflammatory response|positive regulation of monocyte chemotaxis|positive regulation of receptor-mediated endocytosis|regulation of receptor activity	extracellular matrix|extracellular space|plasma membrane|platelet alpha granule lumen	protease binding|serine-type endopeptidase inhibitor activity	g.chr7:100775170T>C	M16006	CCDS5711.1	7q22.1	2014-02-18	2005-08-18		ENSG00000106366	ENSG00000106366		"Serine (or cysteine) peptidase inhibitors"	8583	protein-coding gene	gene with protein product	"plasminogen activator inhibitor, type I"	173360	"serine (or cysteine) proteinase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1"	PLANH1, PAI1		3097076, 2891140, 24172014	Standard	NM_000602		Approved	PAI	uc003uxt.4	P05121	OTTHUMG00000157107	ENST00000223095.4:c.520T>C	7.37:g.100775170T>C						SERPINE1_ENST00000445463.2_Silent_p.L159L	p.L174L	NM_000602.4	NP_000593.1	P05121	PAI1_HUMAN			4	677	+	Lung NSC(181;0.136)|all_lung(186;0.182)		174					B7Z4S0|F8WD53	Silent	SNP	ENST00000223095.4	37	c.520T>C	CCDS5711.1																																																																																				0.493	SERPINE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347458.1	NM_000602		20	317	0	0	0	1	0	20	317					C	100775170	T	C	100775170	2	2	26	1	0	0	0	0	0	0	0	1	14111	1606	56	4		4	SERPINE1	7	100775170	Silent	SNP	T	TCGA-CH-5754-01A-11D-1576-08	1300956	100775170	58363493	37	1169	4	2									
SERPINE1	5054	broad.mit.edu	37	chr7	100775172	100775172	+	Silent	SNP	G	G	A																															ataggtatgatcagcaacttGcttgggaaaggagccgtgga																										TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr7:100775172G>A	ENST00000223095.4	+	4	679	c.522G>A	c.(520-522)ttG>ttA	p.L174L	SERPINE1_ENST00000445463.2_Silent_p.L159L	NM_000602.4	NP_000593.1	P05121	PAI1_HUMAN	serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1	174					angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cellular response to lipopolysaccharide (GO:0071222)|chronological cell aging (GO:0001300)|defense response to Gram-negative bacterium (GO:0050829)|extracellular matrix organization (GO:0030198)|fibrinolysis (GO:0042730)|gene expression (GO:0010467)|negative regulation of blood coagulation (GO:0030195)|negative regulation of cell adhesion mediated by integrin (GO:0033629)|negative regulation of cell migration (GO:0030336)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of fibrinolysis (GO:0051918)|negative regulation of plasminogen activation (GO:0010757)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of smooth muscle cell-matrix adhesion (GO:2000098)|negative regulation of vascular wound healing (GO:0061044)|negative regulation of wound healing (GO:0061045)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood coagulation (GO:0030194)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of leukotriene production involved in inflammatory response (GO:0035491)|positive regulation of monocyte chemotaxis (GO:0090026)|positive regulation of receptor-mediated endocytosis (GO:0048260)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell proliferation (GO:0042127)|regulation of receptor activity (GO:0010469)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	protease binding (GO:0002020)|serine-type endopeptidase inhibitor activity (GO:0004867)	p.L174L(1)		central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(3)	20	Lung NSC(181;0.136)|all_lung(186;0.182)				Alteplase(DB00009)|Anistreplase(DB00029)|Drotrecogin alfa(DB00055)|Reteplase(DB00015)|Tenecteplase(DB00031)|Urokinase(DB00013)	TCAGCAACTTGCTTGGGAAAG	0.498																																						ENST00000223095.4																			1	Substitution - coding silent(1)	p.L174L(1)	prostate(1)	central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(3)	20						c.(520-522)ttG>ttA		serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1	Atorvastatin(DB01076)|Dimethyl sulfoxide(DB01093)|Drotrecogin alfa(DB00055)|Simvastatin(DB00641)|Tenecteplase(DB00031)|Troglitazone(DB00197)|Urokinase(DB00013)						129	129	129					7																	100775172		2203	4300	6503	SO:0001819	synonymous_variant	5054				angiogenesis|cellular response to chemical stimulus|cellular response to lipopolysaccharide|chronological cell aging|defense response to Gram-negative bacterium|fibrinolysis|negative regulation of apoptosis|negative regulation of cell adhesion mediated by integrin|negative regulation of fibrinolysis|negative regulation of plasminogen activation|negative regulation of smooth muscle cell migration|negative regulation of smooth muscle cell-matrix adhesion|negative regulation of vascular wound healing|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of interleukin-8 production|positive regulation of leukotriene production involved in inflammatory response|positive regulation of monocyte chemotaxis|positive regulation of receptor-mediated endocytosis|regulation of receptor activity	extracellular matrix|extracellular space|plasma membrane|platelet alpha granule lumen	protease binding|serine-type endopeptidase inhibitor activity	g.chr7:100775172G>A	M16006	CCDS5711.1	7q22.1	2014-02-18	2005-08-18		ENSG00000106366	ENSG00000106366		"Serine (or cysteine) peptidase inhibitors"	8583	protein-coding gene	gene with protein product	"plasminogen activator inhibitor, type I"	173360	"serine (or cysteine) proteinase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1"	PLANH1, PAI1		3097076, 2891140, 24172014	Standard	NM_000602		Approved	PAI	uc003uxt.4	P05121	OTTHUMG00000157107	ENST00000223095.4:c.522G>A	7.37:g.100775172G>A						SERPINE1_ENST00000445463.2_Silent_p.L159L	p.L174L	NM_000602.4	NP_000593.1	P05121	PAI1_HUMAN			4	679	+	Lung NSC(181;0.136)|all_lung(186;0.182)		174					B7Z4S0|F8WD53	Silent	SNP	ENST00000223095.4	37	c.522G>A	CCDS5711.1																																																																																				0.498	SERPINE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347458.1	NM_000602		19	311	0	0	0	1	0	19	311					A	100775172	G	A	100775172	2	1	26	1	0	0	0	0	0	0	0	1	14111	1310	46	3		3	SERPINE1	7	100775172	Silent	SNP	G	TCGA-CH-5754-01A-11D-1576-08	2	100775172	58363491	38	1170	4	2									
C7orf60	154743	broad.mit.edu	37	chr7	112555403	112555403	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttcgccctcacaagtttttGcccaatgattatctgccaaa	10	13	5	13	1	2	1	1	1	1	0	3	1	2	1	3	0	2	1	3	0	4	4			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr7:112555403G>C	ENST00000297145.4	-	2	425	c.260C>G	c.(259-261)gCa>gGa	p.A87G	C7orf60_ENST00000485446.1_5'UTR	NM_152556.2	NP_689769.2	Q1RMZ1	BMT2_HUMAN	chromosome 7 open reading frame 60	87							rRNA (adenine) methyltransferase activity (GO:0016433)	p.A87G(1)		breast(1)|endometrium(2)|lung(7)|ovary(3)|prostate(2)|skin(1)|urinary_tract(1)	17						ACAAGTTTTTGCCCAATGATT	0.363																																						ENST00000297145.4																			1	Substitution - Missense(1)	p.A87G(1)	prostate(1)	breast(1)|endometrium(2)|lung(7)|ovary(3)|prostate(2)|skin(1)|urinary_tract(1)	17						c.(259-261)gCa>gGa		chromosome 7 open reading frame 60							162	153	156					7																	112555403		1878	4114	5992	SO:0001583	missense	154743							g.chr7:112555403G>C		CCDS43634.1	7q31.1	2011-01-11	2008-06-19		ENSG00000164603	ENSG00000164603			26475	protein-coding gene	gene with protein product	"hypothetical protein FLJ31818"						Standard	NM_152556		Approved	DKFZp762M126, FLJ31818	uc003vgo.1	Q1RMZ1	OTTHUMG00000155233	ENST00000297145.4:c.260C>G	7.37:g.112555403G>C	ENSP00000297145:p.Ala87Gly					C7orf60_ENST00000485446.1_5'UTR	p.A87G	NM_152556.2	NP_689769.2	Q1RMZ1	CG060_HUMAN			2	425	-			87					Q8N3D0|Q96MV7	Missense_Mutation	SNP	ENST00000297145.4	37	c.260C>G	CCDS43634.1	.	.	.	.	.	.	.	.	.	.	G	15.84	2.952150	0.53293	.	.	ENSG00000164603	ENST00000297145;ENST00000432572;ENST00000358032	.	.	.	5.45	5.45	0.79879	.	0.103338	0.64402	D	0.000002	T	0.52693	0.1750	L	0.43152	1.355	0.58432	D	0.999996	P;B	0.39665	0.682;0.006	B;B	0.37731	0.257;0.001	T	0.48779	-0.9005	9	0.27082	T	0.32	-4.686	19.6493	0.95794	0.0:0.0:1.0:0.0	.	34;87	B4DST1;Q1RMZ1	.;CG060_HUMAN	G	87;69;34	.	ENSP00000297145:A87G	A	-	2	0	C7orf60	112342639	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.216000	0.72212	2.711000	0.92665	0.591000	0.81541	GCA		0.363	C7orf60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338923.1	NM_152556		49	147	0	0	0	1	0	49	147					C	112555403	G	C	112555403	3	2	26	1	0	0	0	0	1	0	0	0	2407	1319	46	5	973	5	C7orf60	7	112555403	Missense_Mutation	SNP	G	TCGA-CH-5754-01A-11D-1576-08	11780231	112555403	46583260	39	1171											
CNOT4	4850	broad.mit.edu	37	chr7	135106938	135106938	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggcgctgagataaacctacAacaaagacgaggtttttttg	14	10	10	7	2	0	2	0	1	0	2	0	4	0	2	1	2	3	2	1	2	5	5			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr7:135106938A>C	ENST00000315544.5	-	3	618	c.339T>G	c.(337-339)gtT>gtG	p.V113V	CNOT4_ENST00000361528.4_Silent_p.V113V|CNOT4_ENST00000541284.1_Silent_p.V113V|CNOT4_ENST00000423368.2_Silent_p.V113V|CNOT4_ENST00000414802.1_Silent_p.V113V|CNOT4_ENST00000428680.2_Silent_p.V113V|CNOT4_ENST00000451834.1_Silent_p.V113V|CNOT4_ENST00000356162.4_Silent_p.V113V	NM_001190848.1	NP_001177777.1	O95628	CNOT4_HUMAN	CCR4-NOT transcription complex, subunit 4	113	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.				gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|protein autoubiquitination (GO:0051865)|RNA metabolic process (GO:0016070)	cytosol (GO:0005829)|nucleus (GO:0005634)	ligase activity (GO:0016874)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.V113V(2)		autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)	22						ATAAACCTACAACAAAGACGA	0.348																																					Ovarian(51;766 1130 5502 35047 50875)	ENST00000428680.2																			2	Substitution - coding silent(2)	p.V113V(2)	prostate(2)	autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)	22						c.(337-339)gtT>gtG		CCR4-NOT transcription complex, subunit 4							150	141	144					7																	135106938		1857	4091	5948	SO:0001819	synonymous_variant	4850				nuclear-transcribed mRNA poly(A) tail shortening|protein autoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	nucleotide binding|protein binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr7:135106938A>C	AF180475	CCDS43650.1, CCDS47719.1, CCDS55164.1, CCDS55165.1, CCDS55166.1, CCDS55167.1	7q33	2013-09-19			ENSG00000080802	ENSG00000080802		"RNA binding motif (RRM) containing"	7880	protein-coding gene	gene with protein product		604911		NOT4		10637334	Standard	NM_013316		Approved	CLONE243, NOT4H	uc011kpy.2	O95628	OTTHUMG00000155568	ENST00000315544.5:c.339T>G	7.37:g.135106938A>C						CNOT4_ENST00000356162.4_Silent_p.V113V|CNOT4_ENST00000423368.2_Silent_p.V113V|CNOT4_ENST00000361528.4_Silent_p.V113V|CNOT4_ENST00000315544.5_Silent_p.V113V|CNOT4_ENST00000451834.1_Silent_p.V113V|CNOT4_ENST00000541284.1_Silent_p.V113V|CNOT4_ENST00000414802.1_Silent_p.V113V	p.V113V	NM_001008225.2	NP_001008226.1	O95628	CNOT4_HUMAN			3	618	-			113			RRM.		B7Z6I4|E7ET38|F8VQP3|O95339|O95627|Q8IYM7|Q8NCL0|Q9NPQ1|Q9NZN6	Silent	SNP	ENST00000315544.5	37	c.339T>G	CCDS55166.1																																																																																				0.348	CNOT4-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_013316		54	128	0	0	0	1	0	54	128					C	135106938	A	C	135106938	2	2	26	1	0	0	0	0	0	0	0	1	3621	117	5	5		5	CNOT4	7	135106938	Silent	SNP	A	TCGA-CH-5754-01A-11D-1576-08	22551535	135106938	24031725	40	1172											
CLCN1	1180	broad.mit.edu	37	chr7	143043270	143043270	+	Missense_Mutation	SNP	C	C	A																															tctccacccctctactactgCccctctgtccccagaagagc																										TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr7:143043270C>A	ENST00000343257.2	+	18	2297	c.2210C>A	c.(2209-2211)gCc>gAc	p.A737D		NM_000083.2	NP_000074	P35523	CLCN1_HUMAN	chloride channel, voltage-sensitive 1	737					chloride transmembrane transport (GO:1902476)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|neuronal action potential propagation (GO:0019227)|regulation of anion transport (GO:0044070)|transmembrane transport (GO:0055085)|transport (GO:0006810)	chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)	adenyl nucleotide binding (GO:0030554)|chloride channel activity (GO:0005254)|voltage-gated chloride channel activity (GO:0005247)	p.A737D(1)		breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	58	Melanoma(164;0.205)					TCTACTACTGCCCCTCTGTCC	0.597																																						ENST00000343257.2																			1	Substitution - Missense(1)	p.A737D(1)	prostate(1)	breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	58						c.(2209-2211)gCc>gAc		chloride channel, voltage-sensitive 1							91	87	88					7																	143043270		2203	4300	6503	SO:0001583	missense	1180				muscle contraction	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity	g.chr7:143043270C>A	Z25884	CCDS5881.1	7q12	2012-09-26	2012-02-23		ENSG00000188037	ENSG00000188037		"Ion channels / Chloride channels : Voltage-sensitive"	2019	protein-coding gene	gene with protein product	"Thomsen disease, autosomal dominant"	118425	"chloride channel 1, skeletal muscle"			1379744	Standard	NM_000083		Approved	CLC1, ClC-1	uc003wcr.1	P35523	OTTHUMG00000152695	ENST00000343257.2:c.2210C>A	7.37:g.143043270C>A	ENSP00000339867:p.Ala737Asp						p.A737D	NM_000083.2	NP_000074.2	P35523	CLCN1_HUMAN			18	2297	+	Melanoma(164;0.205)		737					A4D2H5|Q2M202	Missense_Mutation	SNP	ENST00000343257.2	37	c.2210C>A	CCDS5881.1	.	.	.	.	.	.	.	.	.	.	C	0.112	-1.137208	0.01742	.	.	ENSG00000188037	ENST00000343257	D	0.85013	-1.93	4.34	2.49	0.30216	.	0.649310	0.13502	N	0.383161	T	0.73513	0.3596	L	0.35723	1.085	0.09310	N	1	B	0.09022	0.002	B	0.09377	0.004	T	0.54275	-0.8318	10	0.13108	T	0.6	.	5.3262	0.15908	0.1998:0.6929:0.0:0.1074	.	737	P35523	CLCN1_HUMAN	D	737	ENSP00000339867:A737D	ENSP00000339867:A737D	A	+	2	0	CLCN1	142753392	0.000000	0.05858	0.004000	0.12327	0.006000	0.05464	0.353000	0.20130	0.293000	0.22520	0.561000	0.74099	GCC		0.597	CLCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327420.1	NM_000083		4	158	1	0	2.56e-06	1	2.65922e-06	4	158					A	143043270	C	A	143043270	3	1	26	1	0	0	0	0	1	0	0	0	3462	739	26	5	2280	5	CLCN1	7	143043270	Missense_Mutation	SNP	C	TCGA-CH-5754-01A-11D-1576-08	7936332	143043270	16095393	41	1173	5	2									
CLCN1	1180	broad.mit.edu	37	chr7	143043271	143043271	+	Silent	SNP	C	C	A																															ctccacccctctactactgcCcctctgtccccagaagagcc																										TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr7:143043271C>A	ENST00000343257.2	+	18	2298	c.2211C>A	c.(2209-2211)gcC>gcA	p.A737A		NM_000083.2	NP_000074	P35523	CLCN1_HUMAN	chloride channel, voltage-sensitive 1	737					chloride transmembrane transport (GO:1902476)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|neuronal action potential propagation (GO:0019227)|regulation of anion transport (GO:0044070)|transmembrane transport (GO:0055085)|transport (GO:0006810)	chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)	adenyl nucleotide binding (GO:0030554)|chloride channel activity (GO:0005254)|voltage-gated chloride channel activity (GO:0005247)	p.A737A(1)		breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	58	Melanoma(164;0.205)					CTACTACTGCCCCTCTGTCCC	0.597																																						ENST00000343257.2																			1	Substitution - coding silent(1)	p.A737A(1)	prostate(1)	breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	58						c.(2209-2211)gcC>gcA		chloride channel, voltage-sensitive 1							90	87	88					7																	143043271		2203	4300	6503	SO:0001819	synonymous_variant	1180				muscle contraction	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity	g.chr7:143043271C>A	Z25884	CCDS5881.1	7q12	2012-09-26	2012-02-23		ENSG00000188037	ENSG00000188037		"Ion channels / Chloride channels : Voltage-sensitive"	2019	protein-coding gene	gene with protein product	"Thomsen disease, autosomal dominant"	118425	"chloride channel 1, skeletal muscle"			1379744	Standard	NM_000083		Approved	CLC1, ClC-1	uc003wcr.1	P35523	OTTHUMG00000152695	ENST00000343257.2:c.2211C>A	7.37:g.143043271C>A							p.A737A	NM_000083.2	NP_000074.2	P35523	CLCN1_HUMAN			18	2298	+	Melanoma(164;0.205)		737					A4D2H5|Q2M202	Silent	SNP	ENST00000343257.2	37	c.2211C>A	CCDS5881.1																																																																																				0.597	CLCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327420.1	NM_000083		4	156	1	0	2.56e-06	1	2.65922e-06	4	156					A	143043271	C	A	143043271	2	1	26	1	0	0	0	0	0	0	0	1	3462	610	22	5		5	CLCN1	7	143043271	Silent	SNP	C	TCGA-CH-5754-01A-11D-1576-08	1	143043271	16095392	42	1174	5	2									
ESYT2	57488	broad.mit.edu	37	chr7	158557460	158557460	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tctaatgattccataggggtCtgactttcccttgacaagtc	9	14	8	10	0	2	3	0	3	2	0	5	3	4	3	2	2	0	0	2	2	3	5			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr7:158557460C>G	ENST00000251527.5	-	9	1218	c.1153G>C	c.(1153-1155)Gac>Cac	p.D385H		NM_020728.2	NP_065779.1	A0FGR8	ESYT2_HUMAN	extended synaptotagmin-like protein 2	413	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.				endocytosis (GO:0006897)|lipid transport (GO:0006869)	extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|integral component of plasma membrane (GO:0005887)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)|membrane (GO:0016020)|organelle membrane contact site (GO:0044232)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|identical protein binding (GO:0042802)|phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|phosphatidylinositol binding (GO:0035091)	p.D385H(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(16)|prostate(2)	32						CCATAGGGGTCTGACTTTCCC	0.433																																						ENST00000251527.5																			1	Substitution - Missense(1)	p.D385H(1)	prostate(1)	breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(16)|prostate(2)	32						c.(1153-1155)Gac>Cac		extended synaptotagmin-like protein 2							149	138	142					7																	158557460		2203	4300	6503	SO:0001583	missense	57488					integral to membrane|plasma membrane		g.chr7:158557460C>G	AB033054	CCDS34791.1	7q36.3	2014-07-02	2009-06-23	2009-06-23	ENSG00000117868	ENSG00000117868		"Synaptotagmins"	22211	protein-coding gene	gene with protein product			"family with sequence similarity 62 (C2 domain containing), member B"	FAM62B		17672888	Standard	NM_020728		Approved	KIAA1228, CHR2SYT	uc003wob.1	A0FGR8	OTTHUMG00000151436	ENST00000251527.5:c.1153G>C	7.37:g.158557460C>G	ENSP00000251527:p.Asp385His						p.D385H	NM_020728.2	NP_065779.1	A0FGR8	ESYT2_HUMAN			9	1218	-			413			C2 1.		A4D229|Q69YJ2|Q6UKI4|Q6ZTU0|Q6ZVU1|Q9BQS0|Q9NW47|Q9ULJ2	Missense_Mutation	SNP	ENST00000251527.5	37	c.1153G>C	CCDS34791.1	.	.	.	.	.	.	.	.	.	.	C	25.0	4.591035	0.86851	.	.	ENSG00000117868	ENST00000251527;ENST00000421679;ENST00000275418;ENST00000429474	T;T	0.18657	2.2;2.2	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	T	0.65386	0.2686	H	0.97983	4.12	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.79242	-0.1884	10	0.87932	D	0	-23.1765	18.7125	0.91662	0.0:1.0:0.0:0.0	.	413;385	A0FGR8-6;A0FGR8-2	.;.	H	385;413;355;209	ENSP00000251527:D385H;ENSP00000275418:D355H	ENSP00000251527:D385H	D	-	1	0	ESYT2	158250221	1.000000	0.71417	1.000000	0.80357	0.801000	0.45260	7.654000	0.83653	2.659000	0.90383	0.655000	0.94253	GAC		0.433	ESYT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322647.1	NM_020728		41	323	0	0	0	1	0	41	323					G	158557460	C	G	158557460	3	3	26	1	0	0	0	0	1	0	0	0	5265	913	32	5	1584	5	ESYT2	7	158557460	Missense_Mutation	SNP	C	TCGA-CH-5754-01A-11D-1576-08	15514189	158557460	581203	43	1175											
PREX2	80243	broad.mit.edu	37	chr8	69002823	69002823	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtatttataggaactgtggCtgcagcagctggtcttcacc	8	13	11	9	0	2	0	1	0	1	0	2	1	2	1	1	3	4	5	1	3	4	5			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr8:69002823C>T	ENST00000288368.4	+	20	2400	c.2123C>T	c.(2122-2124)gCt>gTt	p.A708V	RP11-403D15.2_ENST00000526901.1_RNA|PREX2_ENST00000529398.1_3'UTR	NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2	708	PDZ 2. {ECO:0000255|PROSITE- ProRule:PRU00143}.				adult locomotory behavior (GO:0008344)|dendrite morphogenesis (GO:0048813)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|positive regulation of Rac GTPase activity (GO:0032855)		Rac GTPase activator activity (GO:0030675)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)	p.A708V(2)		NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						GGAACTGTGGCTGCAGCAGCT	0.368																																						ENST00000288368.4																			2	Substitution - Missense(2)	p.A708V(2)	prostate(2)	NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						c.(2122-2124)gCt>gTt		phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2							84	81	82					8																	69002823		2203	4300	6503	SO:0001583	missense	80243				G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity	g.chr8:69002823C>T	AK024079	CCDS6201.1	8q13.1	2014-06-13	2008-09-15	2008-09-15	ENSG00000046889	ENSG00000046889		"Rho guanine nucleotide exchange factors"	22950	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 129"	612139	"DEP domain containing 2"	DEPDC2		15304342, 15304343	Standard	NM_024870		Approved	DEP.2, FLJ12987, P-REX2, PPP1R129	uc003xxv.1	Q70Z35	OTTHUMG00000164402	ENST00000288368.4:c.2123C>T	8.37:g.69002823C>T	ENSP00000288368:p.Ala708Val					PREX2_ENST00000529398.1_3'UTR|RP11-403D15.2_ENST00000526901.1_RNA	p.A708V	NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN			20	2400	+			708			PDZ 2.		B4DFX0|Q32KL0|Q32KL1|Q6R7Q3|Q6R7Q4|Q9H805|Q9H961	Missense_Mutation	SNP	ENST00000288368.4	37	c.2123C>T	CCDS6201.1	.	.	.	.	.	.	.	.	.	.	C	35	5.502545	0.96371	.	.	ENSG00000046889	ENST00000288368;ENST00000396539;ENST00000354677	T	0.66638	-0.22	5.89	5.89	0.94794	PDZ/DHR/GLGF (4);	0.000000	0.85682	D	0.000000	D	0.88959	0.6579	H	0.96777	3.88	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;0.999	D	0.91777	0.5432	10	0.87932	D	0	.	20.2508	0.98407	0.0:1.0:0.0:0.0	.	708;708;708	Q70Z35-2;Q70Z35;Q70Z35-3	.;PREX2_HUMAN;.	V	708	ENSP00000288368:A708V	ENSP00000288368:A708V	A	+	2	0	PREX2	69165377	1.000000	0.71417	0.979000	0.43373	0.965000	0.64279	7.555000	0.82223	2.788000	0.95919	0.585000	0.79938	GCT		0.368	PREX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378620.1	NM_025170		54	63	0	0	0	1	0	54	63					T	69002823	C	T	69002823	3	4	26	1	0	0	0	0	1	0	0	0	12477	797	28	3	2201	3	PREX2	8	69002823	Missense_Mutation	SNP	C	TCGA-CH-5754-01A-11D-1576-08		69002823	77361199	44	1176											
GRHL2	79977	broad.mit.edu	37	chr8	102570788	102570788	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cgggaacagtacagcatcagCttccccgagagctctgccat	10	7	10	14	2	2	1	1	0	1	1	3	3	3	2	3	1	6	4	3	1	2	2			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr8:102570788C>A	ENST00000251808.3	+	4	764	c.426C>A	c.(424-426)agC>agA	p.S142R	GRHL2_ENST00000395927.1_Missense_Mutation_p.S126R	NM_024915.3	NP_079191.2	Q6ISB3	GRHL2_HUMAN	grainyhead-like 2 (Drosophila)	142					brain development (GO:0007420)|camera-type eye development (GO:0043010)|cardiac ventricle morphogenesis (GO:0003208)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic digit morphogenesis (GO:0042733)|face development (GO:0060324)|in utero embryonic development (GO:0001701)|lung lobe morphogenesis (GO:0060463)|multicellular organism growth (GO:0035264)|neural tube closure (GO:0001843)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)	p.S142R(1)		breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28	all_cancers(14;4.39e-08)|all_epithelial(15;4.09e-10)|Lung NSC(17;7.11e-06)|all_lung(17;1.44e-05)		Epithelial(11;5.81e-09)|all cancers(13;3.81e-07)|OV - Ovarian serous cystadenocarcinoma(57;0.000213)			ACAGCATCAGCTTCCCCGAGA	0.517																																						ENST00000251808.3																			1	Substitution - Missense(1)	p.S142R(1)	prostate(1)	breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						c.(424-426)agC>agA		grainyhead-like 2 (Drosophila)							128	125	126					8																	102570788		2203	4300	6503	SO:0001583	missense	79977					cytoplasm|nucleus	DNA binding	g.chr8:102570788C>A	AK023844	CCDS34931.1	8q22.3	2008-02-05	2005-07-11	2005-07-11	ENSG00000083307	ENSG00000083307			2799	protein-coding gene	gene with protein product		608576	"deafness, autosomal dominant 28", "transcription factor CP2-like 3"	DFNA28, TFCP2L3		12393799	Standard	NM_024915		Approved	FLJ13782, BOM	uc010mbu.3	Q6ISB3	OTTHUMG00000149915	ENST00000251808.3:c.426C>A	8.37:g.102570788C>A	ENSP00000251808:p.Ser142Arg					GRHL2_ENST00000395927.1_Missense_Mutation_p.S126R	p.S142R	NM_024915.3	NP_079191.2	Q6ISB3	GRHL2_HUMAN	Epithelial(11;5.81e-09)|all cancers(13;3.81e-07)|OV - Ovarian serous cystadenocarcinoma(57;0.000213)		4	764	+	all_cancers(14;4.39e-08)|all_epithelial(15;4.09e-10)|Lung NSC(17;7.11e-06)|all_lung(17;1.44e-05)		142					A1L303|Q6NT03|Q9H8B8	Missense_Mutation	SNP	ENST00000251808.3	37	c.426C>A	CCDS34931.1	.	.	.	.	.	.	.	.	.	.	C	4.394	0.072747	0.08436	.	.	ENSG00000083307	ENST00000251808;ENST00000395927;ENST00000395928	T;T	0.11930	2.73;2.74	5.1	2.95	0.34219	.	1.060780	0.07091	N	0.838699	T	0.14614	0.0353	L	0.54323	1.7	0.09310	N	1	B;P	0.36465	0.181;0.554	B;B	0.31337	0.074;0.128	T	0.24870	-1.0148	10	0.62326	D	0.03	-2.1926	8.6137	0.33817	0.0:0.7126:0.0:0.2874	.	142;142	B4DL28;Q6ISB3	.;GRHL2_HUMAN	R	142;126;142	ENSP00000251808:S142R;ENSP00000379260:S126R	ENSP00000251808:S142R	S	+	3	2	GRHL2	102639964	0.000000	0.05858	0.002000	0.10522	0.025000	0.11179	0.149000	0.16243	1.149000	0.42402	0.637000	0.83480	AGC		0.517	GRHL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313882.1	NM_024915		70	235	1	0	4.09166e-32	1	4.89538e-32	70	235					A	102570788	C	A	102570788	3	1	26	1	0	0	0	0	1	0	0	0	6764	796	28	5	440	5	GRHL2	8	102570788	Missense_Mutation	SNP	C	TCGA-CH-5754-01A-11D-1576-08	33567965	102570788	43793234	45	1177											
SNTB1	6641	broad.mit.edu	37	chr8	121554095	121554095	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctaaatacagcatcctgatTccatcatctgaagacatttt	13	14	4	10	0	3	3	1	2	2	1	5	3	5	3	2	0	2	1	2	0	4	5			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr8:121554095T>A	ENST00000395601.3	-	7	1893	c.1479A>T	c.(1477-1479)ggA>ggT	p.G493G	SNTB1_ENST00000517992.1_Silent_p.G493G|MTBP_ENST00000519841.1_Intron	NM_021021.3	NP_066301.1	Q13884	SNTB1_HUMAN	syntrophin, beta 1 (dystrophin-associated protein A1, 59kDa, basic component 1)	493	SU.				muscle contraction (GO:0006936)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dystrophin-associated glycoprotein complex (GO:0016010)|focal adhesion (GO:0005925)|protein complex (GO:0043234)|synapse (GO:0045202)		p.G493G(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|prostate(2)|skin(6)	24	Lung NSC(37;4.46e-09)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)		STAD - Stomach adenocarcinoma(47;0.00503)			GCATCCTGATTCCATCATCTG	0.363																																						ENST00000395601.3																			1	Substitution - coding silent(1)	p.G493G(1)	prostate(1)	NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|prostate(2)|skin(6)	24						c.(1477-1479)ggA>ggT		syntrophin, beta 1 (dystrophin-associated protein A1, 59kDa, basic component 1)							135	126	129					8																	121554095		2203	4300	6503	SO:0001819	synonymous_variant	6641				muscle contraction	cell junction|cytoplasm|cytoskeleton|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|calmodulin binding	g.chr8:121554095T>A	AF028828	CCDS6334.1	8q23-q24	2013-01-10	2002-08-29		ENSG00000172164	ENSG00000172164		"Pleckstrin homology (PH) domain containing"	11168	protein-coding gene	gene with protein product	"tax interaction protein 43"	600026	"syntrophin, beta 1 (dystrophin-associated protein A1, 59kD, basic component 1)"	SNT2B1		8183929, 9482110	Standard	NM_021021		Approved	59-DAP, A1B, BSYN2, TIP-43, SNT2	uc010mdg.3	Q13884	OTTHUMG00000165041	ENST00000395601.3:c.1479A>T	8.37:g.121554095T>A						SNTB1_ENST00000517992.1_Silent_p.G493G|MTBP_ENST00000519841.1_Intron	p.G493G	NM_021021.3	NP_066301.1	Q13884	SNTB1_HUMAN	STAD - Stomach adenocarcinoma(47;0.00503)		7	1893	-	Lung NSC(37;4.46e-09)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)		493			SU.		A8K9E0|O14912|Q4KMG8	Silent	SNP	ENST00000395601.3	37	c.1479A>T	CCDS6334.1																																																																																				0.363	SNTB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381535.1	NM_021021		10	219	0	0	0	1	0	10	219					A	121554095	T	A	121554095	2	1	26	1	0	0	0	0	0	0	0	1	14872	1770	62	5		5	SNTB1	8	121554095	Silent	SNP	T	TCGA-CH-5754-01A-11D-1576-08	18983307	121554095	24809927	46	1178											
FAM83A	84985	broad.mit.edu	37	chr8	124219675	124219675	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggtacccgaagtgtgtccgCgtcttcagggccctgtagcc	5	9	13	14	4	2	0	1	0	1	0	3	1	3	0	4	2	2	2	4	2	3	3			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr8:124219675C>T	ENST00000518448.1	+	5	3066	c.1052C>T	c.(1051-1053)gCg>gTg	p.A351V	FAM83A_ENST00000318462.6_Missense_Mutation_p.A351V|FAM83A_ENST00000546351.1_Intron|FAM83A_ENST00000276699.6_Intron|FAM83A_ENST00000536633.1_Intron|FAM83A_ENST00000522648.1_Intron			Q86UY5	FA83A_HUMAN	family with sequence similarity 83, member A	351	Ser-rich.							p.A351V(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(2)|skin(1)	17	Lung NSC(37;1.55e-09)|Ovarian(258;0.0205)		STAD - Stomach adenocarcinoma(47;0.00527)			AGTGTGTCCGCGTCTTCAGGG	0.731																																						ENST00000518448.1																			1	Substitution - Missense(1)	p.A351V(1)	prostate(1)	breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(2)|skin(1)	17						c.(1051-1053)gCg>gTg		family with sequence similarity 83, member A							8	10	10					8																	124219675		2127	4196	6323	SO:0001583	missense	84985							g.chr8:124219675C>T	BC052300	CCDS6339.1, CCDS6340.1, CCDS75784.1	8q24.13	2014-03-13			ENSG00000147689	ENSG00000147689			28210	protein-coding gene	gene with protein product						22886303	Standard	XM_005251087		Approved	MGC14128, BJ-TSA-9	uc003ypx.3	Q86UY5	OTTHUMG00000165083	ENST00000518448.1:c.1052C>T	8.37:g.124219675C>T	ENSP00000428876:p.Ala351Val					FAM83A_ENST00000318462.6_Missense_Mutation_p.A351V|FAM83A_ENST00000276699.6_Intron|FAM83A_ENST00000522648.1_Intron|FAM83A_ENST00000536633.1_Intron|FAM83A_ENST00000546351.1_Intron	p.A351V			Q86UY5	FA83A_HUMAN	STAD - Stomach adenocarcinoma(47;0.00527)		5	3066	+	Lung NSC(37;1.55e-09)|Ovarian(258;0.0205)		351			Ser-rich.		Q71HL2|Q8N7I1|Q96I47	Missense_Mutation	SNP	ENST00000518448.1	37	c.1052C>T	CCDS6340.1	.	.	.	.	.	.	.	.	.	.	C	5.760	0.324639	0.10900	.	.	ENSG00000147689	ENST00000518448;ENST00000318462	T;T	0.08102	3.13;3.13	4.16	-2.97	0.05530	.	2.848170	0.01218	N	0.008039	T	0.04634	0.0126	N	0.12182	0.205	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.34601	-0.9822	10	0.27082	T	0.32	0.1336	3.8231	0.08843	0.107:0.1653:0.1452:0.5825	.	351	Q86UY5	FA83A_HUMAN	V	351	ENSP00000428876:A351V;ENSP00000323034:A351V	ENSP00000323034:A351V	A	+	2	0	FAM83A	124288856	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-1.476000	0.02333	-0.527000	0.06374	0.436000	0.28706	GCG		0.731	FAM83A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381737.1	NM_032899		6	28	0	0	0	1	0	6	28					T	124219675	C	T	124219675	3	4	26	1	0	0	0	0	1	0	0	0	5633	768	27	1	1066	1	FAM83A	8	124219675	Missense_Mutation	SNP	C	TCGA-CH-5754-01A-11D-1576-08	2665580	124219675	22144347	47	1179											
ATAD2	29028	broad.mit.edu	37	chr8	124350061	124350065	+	Splice_Site	DEL	ACTTC	ACTTC	-																															gtacctccaaagcctgcaaaActtcacatgaatggaagaat																										TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr8:124350061_124350065delACTTC	ENST00000287394.5	-	21	2962	c.2855delGAAGT	c.(2854-2856)gga>ga	p.G952fs	ATAD2_ENST00000521903.1_Splice_Site_p.G270fs	NM_014109.3	NP_054828.2	Q6PL18	ATAD2_HUMAN	ATPase family, AAA domain containing 2	952					ATP catabolic process (GO:0006200)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|lung(16)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	48	Lung NSC(37;1.25e-09)|Ovarian(258;0.00838)		STAD - Stomach adenocarcinoma(47;0.00288)			AGCCTGCAAAACTTCACATGAATGG	0.41																																						ENST00000287394.5																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|lung(16)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	48						c.e21-1		ATPase family, AAA domain containing 2																																				SO:0001630	splice_region_variant	29028				regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleus	ATP binding|ATPase activity	g.chr8:124350061_124350065delACTTC	BC019909	CCDS6343.1	8q24.13	2014-01-21		2007-02-08	ENSG00000156802	ENSG00000156802		"ATPases / AAA-type"	30123	protein-coding gene	gene with protein product		611941				12477932	Standard	NM_014109		Approved	PRO2000, DKFZp667N1320, MGC5254, MGC29843, CT137	uc003yqh.4	Q6PL18	OTTHUMG00000165090	ENST00000287394.5:c.2855-1GAAGT>-	8.37:g.124350061_124350065delACTTC						ATAD2_ENST00000521903.1_Splice_Site_p.270_splice	p.952_splice	NM_014109.3	NP_054828.2	Q6PL18	ATAD2_HUMAN	STAD - Stomach adenocarcinoma(47;0.00288)		21	2962	-	Lung NSC(37;1.25e-09)|Ovarian(258;0.00838)		952					Q14CR1|Q658P2|Q68CQ0|Q6PJV6|Q8N890|Q9UHS5	Splice_Site	DEL	ENST00000287394.5	37	c.2854_splice	CCDS6343.1																																																																																				0.41	ATAD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381766.2	NM_014109	Frame_Shift_Del	18	130						18	130	---	---	---	---	-	124350065	ACTTC	-	124350061	8	5	26	1	0	1	0	1	0	0	1	0	1071	57	2	0	1349	0	ATAD2	8	124350061	Splice_Site	DEL	ACTTC	TCGA-CH-5754-01A-11D-1576-08	130386	124350061	22013961	48	1180											
COL22A1	169044	broad.mit.edu	37	chr8	139809072	139809072	+	Frame_Shift_Del	DEL	T	T	-																															agatgcttaccttttcacccTtttccccttggccaaaaggt																										TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr8:139809072delT	ENST00000303045.6	-	12	2032	c.1586delA	c.(1585-1587)aagfs	p.K529fs	COL22A1_ENST00000435777.1_Frame_Shift_Del_p.K529fs	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	529	Collagen-like 2.|Gly-rich.|Pro-rich.				extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			CTTTTCACCCTTTTCCCCTTG	0.463										HNSCC(7;0.00092)																												ENST00000303045.6																			0				breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211						c.(1585-1587)agfs		collagen, type XXII, alpha 1							251	246	248					8																	139809072		2203	4300	6503	SO:0001589	frameshift_variant	169044				cell adhesion	collagen|cytoplasm	structural molecule activity	g.chr8:139809072delT	AF406780	CCDS6376.1	8q24.3	2013-01-16			ENSG00000169436	ENSG00000169436		"Collagens"	22989	protein-coding gene	gene with protein product		610026					Standard	NM_152888		Approved		uc003yvd.3	Q8NFW1	OTTHUMG00000150035	ENST00000303045.6:c.1586delA	8.37:g.139809072delT	ENSP00000303153:p.Lys529fs	HNSCC(7;0.00092)				COL22A1_ENST00000435777.1_Frame_Shift_Del_p.K529fs	p.K529fs	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0517)		12	2032	-	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		529			Collagen-like 2.|Gly-rich.|Pro-rich.		B7ZMH0|C9K0G4|Q8IVT9	Frame_Shift_Del	DEL	ENST00000303045.6	37	c.1586delA	CCDS6376.1																																																																																				0.463	COL22A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000315905.2	XM_291257		7	785						7	785	---	---	---	---	-	139809072	T	-	139809072	7	5	26	1	0	1	0	1	0	0	0	0	3681	1609	56	0	3510	0	COL22A1	8	139809072	Frame_Shift_Del	DEL	T	TCGA-CH-5754-01A-11D-1576-08	15459011	139809072	6554950	49	1181											
EIF2C2	27161	broad.mit.edu	37	chr8	141567320	141567320	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tccaccgtctgcccgctctcCtgctgcagcgggaatctgag	5	9	11	16	3	3	1	0	1	3	0	5	2	4	2	4	1	4	3	4	1	1	0			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr8:141567320C>T	ENST00000220592.5	-	8	1006	c.894G>A	c.(892-894)caG>caA	p.Q298Q	AGO2_ENST00000519980.1_Silent_p.Q298Q	NM_012154.3	NP_036286.2	Q9UKV8	AGO2_HUMAN	argonaute RISC catalytic component 2	298	PAZ. {ECO:0000255|HAMAP-Rule:MF_03031}.				epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|innate immune response (GO:0045087)|mRNA cleavage involved in gene silencing by miRNA (GO:0035279)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|negative regulation of translational initiation (GO:0045947)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|post-embryonic development (GO:0009791)|pre-miRNA processing (GO:0031054)|regulation of transcription, DNA-templated (GO:0006355)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|transcription, DNA-templated (GO:0006351)|translation (GO:0006412)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|membrane (GO:0016020)|micro-ribonucleoprotein complex (GO:0035068)|mRNA cap binding complex (GO:0005845)|nucleus (GO:0005634)|polysome (GO:0005844)|ribonucleoprotein complex (GO:0030529)|RISC complex (GO:0016442)	endoribonuclease activity (GO:0004521)|endoribonuclease activity, cleaving siRNA-paired mRNA (GO:0070551)|metal ion binding (GO:0046872)|miRNA binding (GO:0035198)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|RNA 7-methylguanosine cap binding (GO:0000340)|siRNA binding (GO:0035197)|translation initiation factor activity (GO:0003743)	p.Q298Q(2)									GCCCGCTCTCCTGCTGCAGCG	0.592																																						ENST00000220592.5																			2	Substitution - coding silent(2)	p.Q298Q(2)	prostate(2)								c.(892-894)caG>caA		argonaute RISC catalytic component 2							85	88	87					8																	141567320		2203	4300	6503	SO:0001819	synonymous_variant	27161							g.chr8:141567320C>T	AF121255	CCDS6380.1, CCDS55279.1	8q24.3	2013-02-15	2013-02-15	2013-02-15	ENSG00000123908	ENSG00000123908		"Argonaute/PIWI family"	3263	protein-coding gene	gene with protein product	"argonaute 2"	606229	"eukaryotic translation initiation factor 2C, 2"	EIF2C2		10534406, 12906857	Standard	NM_012154		Approved	hAGO2, Q10	uc003yvn.3	Q9UKV8	OTTHUMG00000164232	ENST00000220592.5:c.894G>A	8.37:g.141567320C>T						AGO2_ENST00000519980.1_Silent_p.Q298Q	p.Q298Q	NM_012154.3	NP_036286.2					8	1006	-								Q8TCZ5|Q8WV58|Q96ID1	Silent	SNP	ENST00000220592.5	37	c.894G>A	CCDS6380.1																																																																																				0.592	AGO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377866.4			6	286	0	0	0	1	0	6	286					T	141567320	C	T	141567320	2	4	26	1	0	0	0	0	0	0	0	1	5006	680	24	3		3	EIF2C2	8	141567320	Silent	SNP	C	TCGA-CH-5754-01A-11D-1576-08	1758248	141567320	4796702	50	1182											
TSTA3	7264	broad.mit.edu	37	chr8	144696809	144696809	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggacctgttctgcacgtcgAtcatcctcttggcatacgag	8	11	10	12	3	3	0	1	0	2	0	5	3	4	1	2	2	2	3	2	2	1	3			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr8:144696809A>C	ENST00000425753.2	-	5	552	c.449T>G	c.(448-450)aTc>aGc	p.I150S	TSTA3_ENST00000529064.1_Missense_Mutation_p.I150S	NM_003313.3	NP_003304.1	Q13630	FCL_HUMAN	tissue specific transplantation antigen P35B	150					'de novo' GDP-L-fucose biosynthetic process (GO:0042351)|cytolysis (GO:0019835)|GDP-mannose metabolic process (GO:0019673)|leukocyte cell-cell adhesion (GO:0007159)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	coenzyme binding (GO:0050662)|electron carrier activity (GO:0009055)|GDP-4-dehydro-D-rhamnose reductase activity (GO:0042356)|GDP-L-fucose synthase activity (GO:0050577)|isomerase activity (GO:0016853)	p.I150S(1)		breast(1)|endometrium(1)|large_intestine(1)|lung(3)|pancreas(1)|prostate(1)|skin(1)	9	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.17e-38)|Epithelial(56;7.17e-37)|all cancers(56;2.46e-32)|Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239)			CTGCACGTCGATCATCCTCTT	0.662																																						ENST00000425753.2																			1	Substitution - Missense(1)	p.I150S(1)	prostate(1)	breast(1)|endometrium(1)|large_intestine(1)|lung(3)|pancreas(1)|prostate(1)|skin(1)	9						c.(448-450)aTc>aGc		tissue specific transplantation antigen P35B	NADH(DB00157)						121	105	111					8																	144696809		2203	4300	6503	SO:0001583	missense	7264				'de novo' GDP-L-fucose biosynthetic process|leukocyte cell-cell adhesion		coenzyme binding|electron carrier activity|GDP-4-dehydro-D-rhamnose reductase activity|GDP-L-fucose synthase activity|isomerase activity	g.chr8:144696809A>C	U58766	CCDS6408.1	8q24.3	2012-02-22			ENSG00000104522	ENSG00000104522	1.1.1.271	"Short chain dehydrogenase/reductase superfamily / Extended SDR fold"	12390	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 4E, member 1", "GDP-L-fucose synthase"	137020				7803801, 1348494, 19027726	Standard	NM_003313		Approved	FX, P35B, SDR4E1	uc003yzb.2	Q13630	OTTHUMG00000165159	ENST00000425753.2:c.449T>G	8.37:g.144696809A>C	ENSP00000398803:p.Ile150Ser					TSTA3_ENST00000529064.1_Missense_Mutation_p.I150S	p.I150S	NM_003313.3	NP_003304.1	Q13630	FCL_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;1.17e-38)|Epithelial(56;7.17e-37)|all cancers(56;2.46e-32)|Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239)		5	552	-	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		150					B2R8Y7|D3DWK5|Q567Q9|Q9UDG7	Missense_Mutation	SNP	ENST00000425753.2	37	c.449T>G	CCDS6408.1	.	.	.	.	.	.	.	.	.	.	A	23.0	4.363785	0.82353	.	.	ENSG00000104522	ENST00000529064;ENST00000425753;ENST00000529048;ENST00000533817	D;D;D;D	0.93019	-3.15;-3.15;-3.15;-3.15	4.68	4.68	0.58851	NAD-dependent epimerase/dehydratase (1);NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.96244	0.8775	M	0.81497	2.545	0.80722	D	1	D	0.67145	0.996	D	0.72625	0.978	D	0.96396	0.9293	10	0.59425	D	0.04	-23.0735	12.9705	0.58510	1.0:0.0:0.0:0.0	.	150	Q13630	FCL_HUMAN	S	150	ENSP00000435386:I150S;ENSP00000398803:I150S;ENSP00000431587:I150S;ENSP00000437012:I150S	ENSP00000398803:I150S	I	-	2	0	TSTA3	144767952	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	5.562000	0.67346	1.748000	0.51833	0.383000	0.25322	ATC		0.662	TSTA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382263.1	NM_003313		27	119	0	0	0	1	0	27	119					C	144696809	A	C	144696809	3	2	26	1	0	0	0	0	1	0	0	0	16671	333	12	5	544	5	TSTA3	8	144696809	Missense_Mutation	SNP	A	TCGA-CH-5754-01A-11D-1576-08	3129489	144696809	1667213	51	1183											
KANK1	23189	broad.mit.edu	37	chr9	711931	711931	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggacagcagctgtgaggccTcctcagagctcagggagaat	11	6	14	10	0	2	3	2	1	0	2	3	5	3	4	2	3	3	3	2	3	1	0			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr9:711931T>C	ENST00000382303.1	+	7	1817	c.1165T>C	c.(1165-1167)Tcc>Ccc	p.S389P	KANK1_ENST00000382293.3_Missense_Mutation_p.S231P|KANK1_ENST00000382297.2_Missense_Mutation_p.S389P|KANK1_ENST00000489369.1_3'UTR	NM_001256876.1	NP_001243805.1	Q14678	KANK1_HUMAN	KN motif and ankyrin repeat domains 1	389	Interaction with KIF21A.				negative regulation of actin filament polymerization (GO:0030837)|negative regulation of cell migration (GO:0030336)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of lamellipodium morphogenesis (GO:2000393)|negative regulation of neuron projection development (GO:0010977)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of ruffle assembly (GO:1900028)|negative regulation of substrate adhesion-dependent cell spreading (GO:1900025)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of Wnt signaling pathway (GO:0030177)|positive regulation of wound healing (GO:0090303)|regulation of establishment of cell polarity (GO:2000114)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|ruffle membrane (GO:0032587)	beta-catenin binding (GO:0008013)	p.S231P(2)|p.S389P(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|stomach(4)|upper_aerodigestive_tract(1)	43		Lung NSC(10;9.84e-12)|all_lung(10;1.02e-11)|Breast(48;0.128)		Epithelial(6;0.000153)|OV - Ovarian serous cystadenocarcinoma(1;0.000358)|Lung(218;0.0222)		CTGTGAGGCCTCCTCAGAGCT	0.577																																						ENST00000382303.1																			3	Substitution - Missense(3)	p.S231P(2)|p.S389P(1)	prostate(3)	autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|stomach(4)|upper_aerodigestive_tract(1)	43						c.(1165-1167)Tcc>Ccc		KN motif and ankyrin repeat domains 1							69	56	60					9																	711931		2203	4300	6503	SO:0001583	missense	23189				negative regulation of actin filament polymerization	cytoplasm		g.chr9:711931T>C	AL833161	CCDS6441.1, CCDS34976.1	9p24.3	2013-01-10	2008-01-29	2008-01-29	ENSG00000107104	ENSG00000107104		"KN motif and ankyrin repeat domain containing", "Ankyrin repeat domain containing"	19309	protein-coding gene	gene with protein product		607704	"ankyrin repeat domain 15"	ANKRD15		12133830, 17996375, 19554261	Standard	NM_015158		Approved	KIAA0172, KANK	uc003zgn.2	Q14678	OTTHUMG00000019434	ENST00000382303.1:c.1165T>C	9.37:g.711931T>C	ENSP00000371740:p.Ser389Pro					KANK1_ENST00000489369.1_3'UTR|KANK1_ENST00000382293.3_Missense_Mutation_p.S231P|KANK1_ENST00000382297.2_Missense_Mutation_p.S389P	p.S389P	NM_001256876.1	NP_001243805.1	Q14678	KANK1_HUMAN		Epithelial(6;0.000153)|OV - Ovarian serous cystadenocarcinoma(1;0.000358)|Lung(218;0.0222)	7	1817	+		Lung NSC(10;9.84e-12)|all_lung(10;1.02e-11)|Breast(48;0.128)	389					A2A2W8|D3DRH3|Q5W0W0|Q8IY65|Q8WX74	Missense_Mutation	SNP	ENST00000382303.1	37	c.1165T>C	CCDS34976.1	.	.	.	.	.	.	.	.	.	.	T	6.713	0.500272	0.12762	.	.	ENSG00000107104	ENST00000382303;ENST00000354485;ENST00000382297;ENST00000382293	T;T;T	0.00912	5.55;5.55;5.55	5.93	-7.75	0.01236	.	1.447460	0.04025	N	0.300354	T	0.00496	0.0016	N	0.05230	-0.09	0.09310	N	1	B;B	0.09022	0.002;0.0	B;B	0.04013	0.001;0.0	T	0.49606	-0.8922	10	0.21540	T	0.41	0.5162	1.5318	0.02537	0.2772:0.2171:0.3512:0.1545	.	389;389	Q5W0W1;Q14678	.;KANK1_HUMAN	P	389;389;389;231	ENSP00000371740:S389P;ENSP00000371734:S389P;ENSP00000371730:S231P	ENSP00000346479:S389P	S	+	1	0	KANK1	701931	0.000000	0.05858	0.039000	0.18376	0.504000	0.33889	-1.394000	0.02518	-0.912000	0.03837	0.533000	0.62120	TCC		0.577	KANK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051484.2	NM_015158		22	68	0	0	0	1	0	22	68					C	711931	T	C	711931	3	2	26	1	0	0	0	0	1	0	0	0	7976	1551	54	4	1171	4	KANK1	9	711931	Missense_Mutation	SNP	T	TCGA-CH-5754-01A-11D-1576-08		711931	140501500	52	1184											
TAF1L	138474	broad.mit.edu	37	chr9	32632549	32632549	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggcgacgaaggtctgcatctGttcctgtcactgtcttcttc	5	14	10	12	2	5	0	1	0	4	0	7	2	6	0	1	2	1	2	1	2	1	3			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr9:32632549G>A	ENST00000242310.4	-	1	3118	c.3029C>T	c.(3028-3030)aCa>aTa	p.T1010I	RP11-555J4.4_ENST00000430787.1_RNA	NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	1010					DNA-templated transcription, initiation (GO:0006352)|histone acetylation (GO:0016573)|male meiosis (GO:0007140)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	transcription factor TFIID complex (GO:0005669)	DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine-acetylated histone binding (GO:0070577)|protein serine/threonine kinase activity (GO:0004674)|TBP-class protein binding (GO:0017025)	p.T1010I(1)		breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		GTCTGCATCTGTTCCTGTCAC	0.458																																						ENST00000242310.4																			1	Substitution - Missense(1)	p.T1010I(1)	prostate(1)	breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159						c.(3028-3030)aCa>aTa		TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like							267	246	253					9																	32632549		2203	4300	6503	SO:0001583	missense	138474				male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding	g.chr9:32632549G>A	AF390562	CCDS35003.1	9p12	2007-07-27	2007-07-27		ENSG00000122728	ENSG00000122728			18056	protein-coding gene	gene with protein product		607798	"TAF1-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa"			12217962	Standard	NM_153809		Approved		uc003zrg.1	Q8IZX4	OTTHUMG00000019747	ENST00000242310.4:c.3029C>T	9.37:g.32632549G>A	ENSP00000418379:p.Thr1010Ile						p.T1010I	NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)	1	3118	-			1010					Q0VG57	Missense_Mutation	SNP	ENST00000242310.4	37	c.3029C>T	CCDS35003.1	.	.	.	.	.	.	.	.	.	.	G	18.54	3.645926	0.67358	.	.	ENSG00000122728	ENST00000242310	T	0.15603	2.41	0.479	0.479	0.16796	Transcription initiation factor TFIID subunit 1, domain of unknown function (1);	0.044536	0.85682	D	0.000000	T	0.42765	0.1217	M	0.91354	3.2	0.58432	D	0.999997	D	0.89917	1.0	D	0.91635	0.999	T	0.40079	-0.9582	10	0.87932	D	0	.	6.6915	0.23174	2.0E-4:0.0:0.9998:0.0	.	1010	Q8IZX4	TAF1L_HUMAN	I	1010	ENSP00000418379:T1010I	ENSP00000418379:T1010I	T	-	2	0	TAF1L	32622549	1.000000	0.71417	0.997000	0.53966	0.784000	0.44337	3.409000	0.52657	0.507000	0.28148	0.195000	0.17529	ACA		0.458	TAF1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052012.2			154	334	0	0	0	1	0	154	334					A	32632549	G	A	32632549	3	1	26	1	0	0	0	0	1	0	0	0	15520	1377	48	3	2455	3	TAF1L	9	32632549	Missense_Mutation	SNP	G	TCGA-CH-5754-01A-11D-1576-08	31920618	32632549	108580882	53	1185											
KIF24	347240	broad.mit.edu	37	chr9	34257426	34257426	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtactcagccctgtggtgggCgttgccaaaggagagctcaa	9	8	14	10	1	2	1	2	0	0	1	2	2	2	1	2	3	4	3	2	3	3	2	rs374423056		TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr9:34257426C>T	ENST00000402558.2	-	10	2203	c.2179G>A	c.(2179-2181)Gcc>Acc	p.A727T	KIF24_ENST00000379174.3_Missense_Mutation_p.A593T|KIF24_ENST00000345050.2_Missense_Mutation_p.A593T|KIF24_ENST00000379166.2_Missense_Mutation_p.A727T			Q5T7B8	KIF24_HUMAN	kinesin family member 24	727					ATP catabolic process (GO:0006200)|cilium assembly (GO:0042384)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)	centriole (GO:0005814)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|protein complex (GO:0043234)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.A209T(1)|p.A727T(1)		breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|liver(1)|lung(13)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	32			LUSC - Lung squamous cell carcinoma(29;0.0107)			CTGTGGTGGGCGTTGCCAAAG	0.567																																						ENST00000379166.2																			2	Substitution - Missense(2)	p.A209T(1)|p.A727T(1)	prostate(2)	breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|liver(1)|lung(13)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	32						c.(2179-2181)Gcc>Acc		kinesin family member 24		C	THR/ALA	0,4406		0,0,2203	205	200	202		2179	-11.3	0	9		202	1,8599	1.2+/-3.3	0,1,4299	no	missense	KIF24	NM_194313.2	58	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	727/1369	34257426	1,13005	2203	4300	6503	SO:0001583	missense	347240				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr9:34257426C>T	AK001795	CCDS6551.2	9p13.3	2013-01-10			ENSG00000186638	ENSG00000186638		"Kinesins", "Sterile alpha motif (SAM) domain containing"	19916	protein-coding gene	gene with protein product		613747	"chromosome 9 open reading frame 48"	C9orf48		12477932	Standard	NM_194313		Approved	bA571F15.4, FLJ10933, FLJ43884	uc003zua.4	Q5T7B8	OTTHUMG00000019810	ENST00000402558.2:c.2179G>A	9.37:g.34257426C>T	ENSP00000384433:p.Ala727Thr					KIF24_ENST00000402558.2_Missense_Mutation_p.A727T|KIF24_ENST00000345050.2_Missense_Mutation_p.A593T|KIF24_ENST00000379174.3_Missense_Mutation_p.A593T	p.A727T	NM_194313.2	NP_919289.2	Q5T7B8	KIF24_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0107)		11	2298	-			727					Q2TB93|Q5T7B5|Q5T7B7|Q6ZU97|Q6ZUZ2|Q86XZ0|Q9NV43	Missense_Mutation	SNP	ENST00000402558.2	37	c.2179G>A	CCDS6551.2	.	.	.	.	.	.	.	.	.	.	C	1.941	-0.443495	0.04604	0.0	1.16E-4	ENSG00000186638	ENST00000402558;ENST00000379174;ENST00000379166;ENST00000345050;ENST00000420188	T;T;T;T	0.70631	-0.3;-0.5;-0.3;-0.5	5.8	-11.3	0.00108	.	2.832070	0.01222	N	0.008139	T	0.37544	0.1007	N	0.02539	-0.55	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.26360	-1.0105	10	0.13470	T	0.59	.	9.9493	0.41630	0.0:0.3313:0.3281:0.3406	.	727	Q5T7B8	KIF24_HUMAN	T	727;593;727;593;727	ENSP00000384433:A727T;ENSP00000368472:A593T;ENSP00000368464:A727T;ENSP00000340179:A593T	ENSP00000340179:A593T	A	-	1	0	KIF24	34247426	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-1.206000	0.03011	-1.161000	0.02800	-1.119000	0.02030	GCC		0.567	KIF24-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052150.5			134	303	0	0	0	1	0	134	303					T	34257426	C	T	34257426	3	4	26	1	0	0	0	0	1	0	0	0	8292	768	27	1	1939	1	KIF24	9	34257426	Missense_Mutation	SNP	C	TCGA-CH-5754-01A-11D-1576-08	1624877	34257426	106956005	54	1186											
ZBTB43	23099	broad.mit.edu	37	chr9	129595973	129595973	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cggcacatgagcatgcacctCggtcttcggccttacggctg	6	9	12	14	4	1	1	0	1	1	0	3	1	1	1	2	4	3	4	2	4	1	2			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr9:129595973C>T	ENST00000373464.4	+	3	1449	c.1185C>T	c.(1183-1185)ctC>ctT	p.L395L	ZBTB43_ENST00000449886.1_Silent_p.L395L|ZBTB43_ENST00000373457.1_Silent_p.L395L	NM_014007.3	NP_054726.1	O43298	ZBT43_HUMAN	zinc finger and BTB domain containing 43	395					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.L395L(1)		NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14						GCATGCACCTCGGTCTTCGGC	0.498																																						ENST00000373464.4																			1	Substitution - coding silent(1)	p.L395L(1)	prostate(1)	NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14						c.(1183-1185)ctC>ctT		zinc finger and BTB domain containing 43							77	72	74					9																	129595973		2203	4300	6503	SO:0001819	synonymous_variant	23099				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:129595973C>T	AF049907	CCDS6867.1	9q33.3	2013-01-09	2006-04-12	2006-04-12	ENSG00000169155	ENSG00000169155		"-", "BTB/POZ domain containing", "Zinc fingers, C2H2-type"	17908	protein-coding gene	gene with protein product			"zinc finger protein 297B"	ZNF297B			Standard	NM_014007		Approved	KIAA0414, ZNF-X, FLJ22470, ZBTB22B	uc010mxf.3	O43298	OTTHUMG00000020693	ENST00000373464.4:c.1185C>T	9.37:g.129595973C>T						ZBTB43_ENST00000373457.1_Silent_p.L395L|ZBTB43_ENST00000449886.1_Silent_p.L395L	p.L395L	NM_014007.3	NP_054726.1	O43298	ZBT43_HUMAN			3	1449	+			395					Q5JU96	Silent	SNP	ENST00000373464.4	37	c.1185C>T	CCDS6867.1																																																																																				0.498	ZBTB43-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054124.1	NM_001135776		71	124	0	0	0	1	0	71	124					T	129595973	C	T	129595973	2	4	26	1	0	0	0	0	0	0	0	1	17541	871	31	2		2	ZBTB43	9	129595973	Silent	SNP	C	TCGA-CH-5754-01A-11D-1576-08	95338547	129595973	11617458	55	1187											
FBXO18	84893	broad.mit.edu	37	chr10	5948526	5948526	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cacgtgtttgccttcctcccGgtggaagacctctattggaa	7	12	10	12	2	1	1	0	0	1	1	3	3	3	3	4	3	1	1	4	3	3	4			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr10:5948526G>A	ENST00000362091.4	+	3	799	c.684G>A	c.(682-684)ccG>ccA	p.P228P	FBXO18_ENST00000379999.5_Silent_p.P279P|FBXO18_ENST00000470089.1_3'UTR|FBXO18_ENST00000397269.3_De_novo_Start_InFrame	NM_001258453.1|NM_178150.2	NP_001245382.1|NP_835363.1	Q8NFZ0	FBX18_HUMAN	F-box protein, helicase, 18	228					DNA catabolic process, endonucleolytic (GO:0000737)|positive regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902231)|positive regulation of protein phosphorylation (GO:0001934)|response to intra-S DNA damage checkpoint signaling (GO:0072429)	nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)	p.P279P(1)		NS(2)|breast(2)|kidney(2)|large_intestine(16)|lung(9)|ovary(2)|prostate(3)|skin(3)|stomach(1)	40						CCTTCCTCCCGGTGGAAGACC	0.567																																						ENST00000397269.3																			1	Substitution - coding silent(1)	p.P279P(1)	prostate(1)	NS(2)|breast(2)|kidney(2)|large_intestine(16)|lung(9)|ovary(2)|prostate(3)|skin(3)|stomach(1)	40								F-box protein, helicase, 18							82	73	76					10																	5948526		2203	4300	6503	SO:0001819	synonymous_variant	84893				DNA repair	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding	g.chr10:5948526G>A	AK095343	CCDS7072.1, CCDS7073.1, CCDS73064.1	10p15.1	2004-08-24	2004-06-15		ENSG00000134452	ENSG00000134452		"F-boxes /  "other""	13620	protein-coding gene	gene with protein product		607222	"F-box only protein 18"			10531037, 11956208	Standard	NM_032807		Approved	FBH1, FLJ14590, Fbx18	uc001iit.4	Q8NFZ0	OTTHUMG00000017609	ENST00000362091.4:c.684G>A	10.37:g.5948526G>A						FBXO18_ENST00000362091.4_Silent_p.P228P|FBXO18_ENST00000379999.5_Silent_p.P279P|FBXO18_ENST00000470089.1_3'UTR		NM_001258452.1	NP_001245381.1	Q8NFZ0	FBX18_HUMAN			0	853	+								Q5JVB0|Q5JVB1|Q7Z4Q6|Q7Z4R0|Q8N1P5|Q8N586|Q96E82|Q96K67|Q96SW7|Q9UFB2	Translation_Start_Site	SNP	ENST00000362091.4	37		CCDS7072.1																																																																																				0.567	FBXO18-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046596.1	NM_032807		42	138	0	0	0	1	0	42	138					A	5948526	G	A	5948526	2	1	26	1	0	0	0	0	0	0	0	1	5731	1103	39	2		2	FBXO18	10	5948526	Silent	SNP	G	TCGA-CH-5754-01A-11D-1576-08		5948526	129586221	56	1188											
SPAG6	9576	broad.mit.edu	37	chr10	22690118	22690118	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agccataaagaatatcctgcAaaaatgtacctacttaccag	17	9	5	10	0	0	1	0	0	0	1	1	1	1	1	4	0	5	2	4	0	9	5			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr10:22690118A>G	ENST00000376624.3	+	9	1368	c.1226A>G	c.(1225-1227)cAa>cGa	p.Q409R	RP11-301N24.3_ENST00000422675.1_RNA|SPAG6_ENST00000313311.6_Missense_Mutation_p.Q409R|SPAG6_ENST00000538630.1_Missense_Mutation_p.Q384R|SPAG6_ENST00000376601.1_Missense_Mutation_p.Q170R|SPAG6_ENST00000490361.1_3'UTR|SPAG6_ENST00000376603.2_Missense_Mutation_p.Q485R	NM_001253855.1|NM_012443.3	NP_001240784.1|NP_036575.1	O75602	SPAG6_HUMAN	sperm associated antigen 6	409					cell projection organization (GO:0030030)|spermatid development (GO:0007286)	axoneme (GO:0005930)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|motile cilium (GO:0031514)|nucleus (GO:0005634)		p.Q409R(1)		breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|prostate(1)|skin(2)	27						AATATCCTGCAAAAATGTACC	0.348																																						ENST00000376603.2																			1	Substitution - Missense(1)	p.Q409R(1)	prostate(1)	breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|prostate(1)|skin(2)	27						c.(1453-1455)cAa>cGa		sperm associated antigen 6							104	101	102					10																	22690118		2203	4300	6503	SO:0001583	missense	9576				cell projection organization|spermatid development	axoneme|cilium|cytoplasm|flagellum|microtubule	binding	g.chr10:22690118A>G	AF079363	CCDS7139.1, CCDS7140.1, CCDS58071.1, CCDS73072.1	10p12.31	2014-01-21			ENSG00000077327	ENSG00000077327		"Armadillo repeat containing"	11215	protein-coding gene	gene with protein product	"axoneme central apparatus protein"	605730				10493827	Standard	NM_012443		Approved	Repro-SA-1, pf16, CT141	uc001iri.3	O75602	OTTHUMG00000017808	ENST00000376624.3:c.1226A>G	10.37:g.22690118A>G	ENSP00000365811:p.Gln409Arg					RP11-301N24.3_ENST00000422675.1_RNA|SPAG6_ENST00000538630.1_Missense_Mutation_p.Q384R|SPAG6_ENST00000313311.6_Missense_Mutation_p.Q409R|SPAG6_ENST00000376601.1_Missense_Mutation_p.Q170R|SPAG6_ENST00000376624.3_Missense_Mutation_p.Q409R|SPAG6_ENST00000490361.1_3'UTR	p.Q485R			O75602	SPAG6_HUMAN			9	1596	+			409					A8K1I8|B4DXZ4|Q5VUX5|Q5VUX6|Q5VUX7|Q6FI74|Q8NHQ6	Missense_Mutation	SNP	ENST00000376624.3	37	c.1454A>G	CCDS7139.1	.	.	.	.	.	.	.	.	.	.	A	14.66	2.602692	0.46423	.	.	ENSG00000077327	ENST00000376624;ENST00000376603;ENST00000376601;ENST00000538630;ENST00000456231;ENST00000313311	T;T;T;T;T;T	0.65364	-0.15;-0.15;0.79;-0.15;0.79;-0.15	5.22	5.22	0.72569	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.65647	0.2711	M	0.79343	2.45	0.58432	D	0.999994	B;B;B;B	0.19445	0.003;0.036;0.02;0.006	B;B;B;B	0.23150	0.008;0.029;0.044;0.02	T	0.66795	-0.5833	10	0.72032	D	0.01	-17.5752	15.1163	0.72404	1.0:0.0:0.0:0.0	.	384;485;409;409	B4DXZ4;O75602-3;O75602-2;O75602	.;.;.;SPAG6_HUMAN	R	409;485;170;384;170;409	ENSP00000365811:Q409R;ENSP00000365788:Q485R;ENSP00000365786:Q170R;ENSP00000441325:Q384R;ENSP00000411111:Q170R;ENSP00000323599:Q409R	ENSP00000323599:Q409R	Q	+	2	0	SPAG6	22730124	1.000000	0.71417	0.954000	0.39281	0.631000	0.37964	5.831000	0.69330	1.978000	0.57642	0.528000	0.53228	CAA		0.348	SPAG6-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047187.1			11	124	0	0	0	1	0	11	124					G	22690118	A	G	22690118	3	3	26	1	0	0	0	0	1	0	0	0	14982	130	5	4	1260	4	SPAG6	10	22690118	Missense_Mutation	SNP	A	TCGA-CH-5754-01A-11D-1576-08	16741592	22690118	112844629	57	1189											
RBP3	5949	broad.mit.edu	37	chr10	48390797	48390797	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	accttggccatgtccagcacCaggcttggctggaacaggtg	8	8	13	12	0	0	0	0	0	0	0	1	1	1	1	4	5	2	3	4	5	1	2			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr10:48390797C>A	ENST00000224600.4	-	1	194	c.81G>T	c.(79-81)ctG>ctT	p.L27L		NM_002900.2	NP_002891.1	P10745	RET3_HUMAN	retinol binding protein 3, interstitial	27	4 X approximate tandem repeats.				lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|transport (GO:0006810)|visual perception (GO:0007601)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|interphotoreceptor matrix (GO:0033165)|vesicle (GO:0031982)	retinal binding (GO:0016918)|retinoid binding (GO:0005501)|retinol binding (GO:0019841)|serine-type peptidase activity (GO:0008236)	p.L27L(1)		central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59					Vitamin A(DB00162)	TGTCCAGCACCAGGCTTGGCT	0.602																																						ENST00000224600.4																			1	Substitution - coding silent(1)	p.L27L(1)	prostate(1)	central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59						c.(79-81)ctG>ctT		retinol binding protein 3, interstitial	Vitamin A(DB00162)						45	42	43					10																	48390797		2203	4300	6503	SO:0001819	synonymous_variant	5949				lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity	g.chr10:48390797C>A	M22453	CCDS73119.1	10q11.2	2014-05-06	2001-11-28		ENSG00000107618	ENSG00000265203			9921	protein-coding gene	gene with protein product		180290	"retinol-binding protein 3, interstitial"				Standard	NM_002900		Approved	D10S64, D10S65, D10S66, RP66	uc001jez.3	P10745	OTTHUMG00000188321	ENST00000224600.4:c.81G>T	10.37:g.48390797C>A							p.L27L	NM_002900.2	NP_002891.1	P10745	RET3_HUMAN			1	194	-			27			4 X approximate tandem repeats.		Q0QD34|Q5VSR0|Q8IXN0	Silent	SNP	ENST00000224600.4	37	c.81G>T	CCDS7218.1																																																																																				0.602	RBP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047888.1	NM_002900		23	64	1	0	4.7796e-09	1	5.12374e-09	23	64					A	48390797	C	A	48390797	2	1	26	1	0	0	0	0	0	0	0	1	13157	581	21	5		5	RBP3	10	48390797	Silent	SNP	C	TCGA-CH-5754-01A-11D-1576-08	25700679	48390797	87143950	58	1190											
ZNF518A	9849	broad.mit.edu	37	chr10	97918959	97918959	+	RNA	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctggaaatgcacttccattGgttaattcacaaggtatccc	11	12	7	11	0	1	0	1	0	0	0	3	1	3	1	3	3	1	3	3	3	4	5			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr10:97918959G>C	ENST00000534948.1	+	0	3737							Q6AHZ1	Z518A_HUMAN	zinc finger protein 518A						transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.L960F(2)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|urinary_tract(2)	24		Colorectal(252;0.0815)		Epithelial(162;4.23e-08)|all cancers(201;1.85e-06)		CACTTCCATTGGTTAATTCAC	0.363																																						ENST00000534948.1																			2	Substitution - Missense(2)	p.L960F(2)	prostate(2)	breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|urinary_tract(2)	24								zinc finger protein 518A							91	91	91					10																	97918959		1816	4068	5884			9849				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr10:97918959G>C	AB002333	CCDS73170.1	10q23.33	2012-08-08	2007-12-07	2007-12-07	ENSG00000177853	ENSG00000177853		"Zinc fingers, C2H2-type"	29009	protein-coding gene	gene with protein product			"zinc finger protein 518"	ZNF518		9205841	Standard	NM_014803		Approved	KIAA0335	uc001klp.3	Q6AHZ1	OTTHUMG00000018828		10.37:g.97918959G>C										Q6AHZ1	Z518A_HUMAN		Epithelial(162;4.23e-08)|all cancers(201;1.85e-06)	0	3737	+		Colorectal(252;0.0815)						A0PJI5|O15044|Q32MP4	RNA	SNP	ENST00000534948.1	37																																																																																						0.363	ZNF518A-202	KNOWN	basic	processed_transcript	processed_transcript		NM_014803		55	262	0	0	0	1	0	55	262					C	97918959	G	C	97918959	1	2	26	0	1	0	0	0	0	0	0	0	17959	1339	47	5		5	ZNF518A	10	97918959	RNA	SNP	G	TCGA-CH-5754-01A-11D-1576-08	49528162	97918959	37615788	59	1191											
CRTAC1	55118	broad.mit.edu	37	chr10	99655149	99655149	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccgggtgcgtggcaccactcGcagccagttgttgttgaagc	6	9	14	12	3	0	1	0	1	0	0	1	1	0	1	3	2	3	5	3	2	1	3			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr10:99655149G>A	ENST00000370597.3	-	11	1694	c.1339C>T	c.(1339-1341)Cga>Tga	p.R447*	CRTAC1_ENST00000370591.2_Nonsense_Mutation_p.R447*|CRTAC1_ENST00000298819.4_Nonsense_Mutation_p.R447*	NM_018058.6	NP_060528.3	Q9NQ79	CRAC1_HUMAN	cartilage acidic protein 1	447						extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)	p.R447*(1)		autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(6)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	35		Colorectal(252;0.24)		Epithelial(162;2.18e-10)|all cancers(201;3.27e-09)		GGCACCACTCGCAGCCAGTTG	0.642																																						ENST00000370597.3																			1	Substitution - Nonsense(1)	p.R447*(1)	prostate(1)	autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(6)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	35						c.(1339-1341)Cga>Tga		cartilage acidic protein 1							57	54	55					10																	99655149		2203	4300	6503	SO:0001587	stop_gained	55118					proteinaceous extracellular matrix	calcium ion binding	g.chr10:99655149G>A	AJ276171	CCDS31266.1, CCDS55723.1	10q22	2007-12-03			ENSG00000095713	ENSG00000095713			14882	protein-coding gene	gene with protein product		606276				11139377	Standard	NM_018058		Approved	FLJ10320, CEP-68, ASPIC1	uc001kou.2	Q9NQ79	OTTHUMG00000018871	ENST00000370597.3:c.1339C>T	10.37:g.99655149G>A	ENSP00000359629:p.Arg447*					CRTAC1_ENST00000370591.2_Nonsense_Mutation_p.R447*|CRTAC1_ENST00000298819.4_Nonsense_Mutation_p.R447*	p.R447*	NM_018058.6	NP_060528.3	Q9NQ79	CRAC1_HUMAN		Epithelial(162;2.18e-10)|all cancers(201;3.27e-09)	11	1694	-		Colorectal(252;0.24)	447					B1ALN4|Q5T4F8|Q8N4H6|Q8TE52|Q9NQ78|Q9NQ80|Q9NW46	Nonsense_Mutation	SNP	ENST00000370597.3	37	c.1339C>T	CCDS31266.1	.	.	.	.	.	.	.	.	.	.	G	41	8.840426	0.98974	.	.	ENSG00000095713	ENST00000413387;ENST00000370597;ENST00000298819;ENST00000309155;ENST00000370591	.	.	.	5.06	3.15	0.36227	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-5.8142	12.9715	0.58515	0.0:0.0:0.5769:0.4231	.	.	.	.	X	343;447;447;439;447	.	ENSP00000298819:R447X	R	-	1	2	CRTAC1	99645139	1.000000	0.71417	0.979000	0.43373	0.994000	0.84299	4.554000	0.60760	0.491000	0.27793	0.462000	0.41574	CGA		0.642	CRTAC1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000049754.1	NM_018058		42	93	0	0	0	1	0	42	93					A	99655149	G	A	99655149	4	1	26	1	0	0	0	0	0	1	0	0	3896	1095	38	1	666	1	CRTAC1	10	99655149	Nonsense_Mutation	SNP	G	TCGA-CH-5754-01A-11D-1576-08	1736190	99655149	35879598	60	1192											
OR5P2	120065	broad.mit.edu	37	chr11	7818051	7818051	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gacagcaatgagaaaaccagCtatgtaaactactaagagta	19	7	8	7	0	0	2	0	1	0	2	0	4	0	2	1	0	5	4	1	0	9	5			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr11:7818051C>A	ENST00000329434.2	-	1	469	c.439G>T	c.(439-441)Gct>Tct	p.A147S	RP11-35J10.5_ENST00000527565.1_lincRNA	NM_153444.1	NP_703145.1	Q8WZ92	OR5P2_HUMAN	olfactory receptor, family 5, subfamily P, member 2	147						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A147S(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)	22				Epithelial(150;8.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		AGAAAACCAGCTATGTAAACT	0.403																																						ENST00000329434.2																			1	Substitution - Missense(1)	p.A147S(1)	prostate(1)	central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)	22						c.(439-441)Gct>Tct		olfactory receptor, family 5, subfamily P, member 2							63	75	71					11																	7818051		2099	4292	6391	SO:0001583	missense	120065				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:7818051C>A	AF173006	CCDS7782.1	11p15.4	2012-08-09			ENSG00000183303	ENSG00000183303		"GPCR / Class A : Olfactory receptors"	14783	protein-coding gene	gene with protein product							Standard	NM_153444		Approved	JCG3	uc001mfp.1	Q8WZ92	OTTHUMG00000165668	ENST00000329434.2:c.439G>T	11.37:g.7818051C>A	ENSP00000331823:p.Ala147Ser					RP11-35J10.5_ENST00000527565.1_lincRNA	p.A147S	NM_153444.1	NP_703145.1	Q8WZ92	OR5P2_HUMAN		Epithelial(150;8.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)	1	469	-			147					Q3MIS8	Missense_Mutation	SNP	ENST00000329434.2	37	c.439G>T	CCDS7782.1	.	.	.	.	.	.	.	.	.	.	C	4.575	0.106898	0.08780	.	.	ENSG00000183303	ENST00000329434	T	0.37584	1.19	5.5	4.59	0.56863	GPCR, rhodopsin-like superfamily (1);	0.173042	0.41500	D	0.000864	T	0.23330	0.0564	N	0.16602	0.42	0.09310	N	1	B	0.09022	0.002	B	0.15870	0.014	T	0.12293	-1.0553	10	0.23302	T	0.38	-2.6433	13.6176	0.62118	0.1557:0.8443:0.0:0.0	.	147	Q8WZ92	OR5P2_HUMAN	S	147	ENSP00000331823:A147S	ENSP00000331823:A147S	A	-	1	0	OR5P2	7774627	0.000000	0.05858	0.087000	0.20705	0.001000	0.01503	0.696000	0.25541	1.555000	0.49500	0.555000	0.69702	GCT		0.403	OR5P2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385696.1	NM_153444		42	137	1	0	6.4771e-29	1	7.48217e-29	42	137					A	7818051	C	A	7818051	3	1	26	1	0	0	0	0	1	0	0	0	11178	797	28	5	533	5	OR5P2	11	7818051	Missense_Mutation	SNP	C	TCGA-CH-5754-01A-11D-1576-08		7818051	127188465	61	1193											
BSCL2	26580	broad.mit.edu	37	chr11	62462097	62462097	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgtagcaggaaatggtgacCaagaacatgcccaaatcttg	14	8	11	8	0	1	2	0	1	1	1	1	3	1	3	2	2	3	2	2	2	5	2			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr11:62462097C>G	ENST00000403550.1	-	4	804	c.381G>C	c.(379-381)ttG>ttC	p.L127F	BSCL2_ENST00000433053.1_Missense_Mutation_p.L191F|BSCL2_ENST00000278893.7_Missense_Mutation_p.L127F|BSCL2_ENST00000407022.3_Missense_Mutation_p.L127F|BSCL2_ENST00000421906.1_Missense_Mutation_p.L127F|BSCL2_ENST00000537604.1_5'UTR|BSCL2_ENST00000405837.1_Missense_Mutation_p.L191F|BSCL2_ENST00000360796.5_Missense_Mutation_p.L191F|HNRNPUL2-BSCL2_ENST00000403734.2_3'UTR			Q96G97	BSCL2_HUMAN	Berardinelli-Seip congenital lipodystrophy 2 (seipin)	127					cell death (GO:0008219)|fat cell differentiation (GO:0045444)|lipid catabolic process (GO:0016042)|lipid particle organization (GO:0034389)|lipid storage (GO:0019915)|negative regulation of lipid catabolic process (GO:0050995)	integral component of endoplasmic reticulum membrane (GO:0030176)		p.L127F(1)		endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)|skin(1)	12						AAATGGTGACCAAGAACATGC	0.522											OREG0021029	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000433053.1																			1	Substitution - Missense(1)	p.L127F(1)	prostate(1)	endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)|skin(1)	12						c.(571-573)ttG>ttC		Berardinelli-Seip congenital lipodystrophy 2 (seipin)							146	114	124					11																	62462097		2202	4299	6501	SO:0001583	missense	26580				cell death	integral to endoplasmic reticulum membrane		g.chr11:62462097C>G		CCDS8031.1, CCDS44627.1, CCDS55769.1	11q13	2014-09-17	2009-07-30		ENSG00000168000	ENSG00000168000			15832	protein-coding gene	gene with protein product		606158	"spastic paraplegia 17 (Silver syndrome)"	GNG3LG, SPG17		11479539, 14981520	Standard	NM_001122955		Approved		uc001nur.4	Q96G97	OTTHUMG00000150624	ENST00000403550.1:c.381G>C	11.37:g.62462097C>G	ENSP00000385561:p.Leu127Phe		OREG0021029	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1061	BSCL2_ENST00000421906.1_Missense_Mutation_p.L127F|BSCL2_ENST00000537604.1_5'UTR|BSCL2_ENST00000360796.5_Missense_Mutation_p.L191F|BSCL2_ENST00000407022.3_Missense_Mutation_p.L127F|RP11-831H9.16_ENST00000403734.2_3'UTR|BSCL2_ENST00000403550.1_Missense_Mutation_p.L127F|BSCL2_ENST00000278893.7_Missense_Mutation_p.L127F|BSCL2_ENST00000405837.1_Missense_Mutation_p.L191F	p.L191F			Q96G97	BSCL2_HUMAN			5	1129	-			127					G3XAE4|Q567S1|Q96SV1|Q9BSQ0	Missense_Mutation	SNP	ENST00000403550.1	37	c.573G>C	CCDS8031.1	.	.	.	.	.	.	.	.	.	.	C	15.39	2.818331	0.50633	.	.	ENSG00000168000	ENST00000405837;ENST00000433053;ENST00000278893;ENST00000360796;ENST00000403550;ENST00000407022;ENST00000421906;ENST00000448568;ENST00000531524;ENST00000524862	D;D;D;D;D;D;D;D;D;D	0.88509	-2.39;-2.39;-2.39;-2.39;-2.39;-2.39;-2.39;-2.39;-2.39;-2.39	5.3	0.897	0.19258	.	0.060873	0.64402	U	0.000013	T	0.77545	0.4146	N	0.19112	0.55	0.37500	D	0.916715	B;B;P;B	0.34934	0.153;0.284;0.476;0.148	B;B;B;B	0.35413	0.074;0.2;0.202;0.109	T	0.72110	-0.4389	10	0.72032	D	0.01	-28.4365	5.4357	0.16480	0.0:0.5817:0.1457:0.2726	.	127;127;191;127	Q96G97-3;Q53EN3;G3XAE4;Q96G97	.;.;.;BSCL2_HUMAN	F	191;191;127;191;127;127;127;127;58;191	ENSP00000385332:L191F;ENSP00000414002:L191F;ENSP00000278893:L127F;ENSP00000354032:L191F;ENSP00000385561:L127F;ENSP00000384080:L127F;ENSP00000413209:L127F;ENSP00000413340:L127F;ENSP00000436026:L58F;ENSP00000433888:L191F	ENSP00000278893:L127F	L	-	3	2	BSCL2	62218673	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.396000	0.44468	0.188000	0.20168	0.563000	0.77884	TTG		0.522	BSCL2-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000319185.1	NM_032667		23	67	0	0	0	1	0	23	67					G	62462097	C	G	62462097	3	3	26	1	0	0	0	0	1	0	0	0	1527	593	21	5	847	5	BSCL2	11	62462097	Missense_Mutation	SNP	C	TCGA-CH-5754-01A-11D-1576-08	54644046	62462097	72544419	62	1194											
RNASEH2C	84153	broad.mit.edu	37	chr11	65487262	65487273	+	In_Frame_Del	DEL	CGGGCACCTGTG	CGGGCACCTGTG	-																															aagctctggttctcagtcctCgggcacctgtgcgtgaatct																								rs560684217		TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr11:65487262_65487273delCGGGCACCTGTG	ENST00000308418.4	-	4	664_675	c.476_487delCACAGGTGCCCG	c.(475-489)gcacaggtgcccgag>gag	p.AQVP159del	RNASEH2C_ENST00000527610.1_In_Frame_Del_p.237_241RTGAR>R|RNASEH2C_ENST00000528220.1_In_Frame_Del_p.AQVP76del	NM_032193.3	NP_115569.2	Q8TDP1	RNH2C_HUMAN	ribonuclease H2, subunit C	159					RNA catabolic process (GO:0006401)	nucleus (GO:0005634)|ribonuclease H2 complex (GO:0032299)				cervix(1)	1						TCTCAGTCCTCGGGCACCTGTGCGTGAATCTG	0.528																																						ENST00000308418.4																			0				cervix(1)	1						c.(475-489)gag>g		ribonuclease H2, subunit C																																				SO:0001651	inframe_deletion	84153				RNA catabolic process	nucleus|ribonuclease H2 complex		g.chr11:65487262_65487273delCGGGCACCTGTG	AF312034	CCDS8111.1	11q13.1	2014-09-17							24116	protein-coding gene	gene with protein product	"Aicardi-Goutieres syndrome 3"	610330				8244390, 16845400	Standard	NM_032193		Approved	AYP1, AGS3	uc001ofn.3	Q8TDP1		ENST00000308418.4:c.476_487delCACAGGTGCCCG	11.37:g.65487262_65487273delCGGGCACCTGTG	ENSP00000308193:p.Ala159_Pro162del					RNASEH2C_ENST00000527610.1_In_Frame_Del_p.RTGAR237del|RNASEH2C_ENST00000528220.1_In_Frame_Del_p.AQVPE76del	p.AQVPE159del	NM_032193.3	NP_115569.2	Q8TDP1	RNH2C_HUMAN			4	664_675	-			159					Q9H7F5	In_Frame_Del	DEL	ENST00000308418.4	37	c.476_487delCACAGGTGCCCG	CCDS8111.1																																																																																				0.528	RNASEH2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390693.2	NM_032193		15	81						15	81	---	---	---	---	-	65487273	CGGGCACCTGTG	-	65487262	7	5	26	1	0	1	0	1	0	0	0	0	13414	893	31	0	11	0	RNASEH2C	11	65487262	In_Frame_Del	DEL	CGGGCACCTGTG	TCGA-CH-5754-01A-11D-1576-08	3025165	65487262	69519254	63	1195											
TBC1D10C	374403	broad.mit.edu	37	chr11	67173158	67173158	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcacgagatgtttgtgtcGcctcagggccacgggtacga	7	9	14	11	4	1	1	1	0	0	1	2	3	1	1	2	2	2	3	2	2	1	2			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr11:67173158G>A	ENST00000542590.1	+	4	467	c.453G>A	c.(451-453)tcG>tcA	p.S151S	TBC1D10C_ENST00000312390.5_Silent_p.S151S|TBC1D10C_ENST00000526387.1_Silent_p.S151S			Q8IV04	TB10C_HUMAN	TBC1 domain family, member 10C	151	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.				retrograde transport, endosome to Golgi (GO:0042147)	filopodium membrane (GO:0031527)|membrane (GO:0016020)|plasma membrane (GO:0005886)	Rab GTPase activator activity (GO:0005097)	p.S151S(1)		cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	16			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)			TGTTTGTGTCGCCTCAGGGCC	0.642																																						ENST00000312390.5																			1	Substitution - coding silent(1)	p.S151S(1)	prostate(1)	cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	16						c.(451-453)tcG>tcA		TBC1 domain family, member 10C							73	71	72					11																	67173158		2200	4295	6495	SO:0001819	synonymous_variant	374403					intracellular	Rab GTPase activator activity	g.chr11:67173158G>A	BC035630	CCDS8162.1, CCDS58150.1	11q13.1	2013-07-09			ENSG00000175463	ENSG00000175463			24702	protein-coding gene	gene with protein product		610831				17230191, 20404108	Standard	NM_001256508		Approved	FLJ00332, Carabin, EPI64C	uc001ola.4	Q8IV04	OTTHUMG00000167139	ENST00000542590.1:c.453G>A	11.37:g.67173158G>A						TBC1D10C_ENST00000526387.1_Silent_p.S151S|TBC1D10C_ENST00000542590.1_Silent_p.S151S	p.S151S	NM_198517.3	NP_940919.1	Q8IV04	TB10C_HUMAN	BRCA - Breast invasive adenocarcinoma(15;2.26e-06)		5	482	+			151			Rab-GAP TBC.		G3V1D6	Silent	SNP	ENST00000542590.1	37	c.453G>A	CCDS8162.1																																																																																				0.642	TBC1D10C-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395492.2	NM_198517		40	83	0	0	0	1	0	40	83					A	67173158	G	A	67173158	2	1	26	1	0	0	0	0	0	0	0	1	15597	1074	38	1		1	TBC1D10C	11	67173158	Silent	SNP	G	TCGA-CH-5754-01A-11D-1576-08	1685896	67173158	67833358	64	1196											
CHRDL2	25884	broad.mit.edu	37	chr11	74421957	74421957	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacagctcatgggcactgaaGatctctccgtgttggtacat	10	11	10	10	1	2	2	1	1	1	1	4	2	3	2	1	2	3	4	1	2	3	2			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr11:74421957G>T	ENST00000376332.3	-	4	865	c.369C>A	c.(367-369)atC>atA	p.I123I	CHRDL2_ENST00000263671.5_Silent_p.I123I|CHRDL2_ENST00000534159.1_5'UTR	NM_001278473.1	NP_001265402.1	Q6WN34	CRDL2_HUMAN	chordin-like 2	123	VWFC 2. {ECO:0000255|PROSITE- ProRule:PRU00220}.				cartilage development (GO:0051216)|cell differentiation (GO:0030154)|ossification (GO:0001503)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)		p.I123I(1)		endometrium(1)|kidney(1)|large_intestine(6)|lung(4)|prostate(1)|skin(2)	15	Hepatocellular(1;0.098)					GGGCACTGAAGATCTCTCCGT	0.622																																						ENST00000376332.3																			1	Substitution - coding silent(1)	p.I123I(1)	prostate(1)	endometrium(1)|kidney(1)|large_intestine(6)|lung(4)|prostate(1)|skin(2)	15						c.(367-369)atC>atA		chordin-like 2							173	160	165					11																	74421957		2200	4293	6493	SO:0001819	synonymous_variant	25884				cartilage development|cell differentiation|ossification	extracellular region|mitochondrion		g.chr11:74421957G>T	AL110168	CCDS8234.1, CCDS60893.1	11q13.4	2013-09-20			ENSG00000054938	ENSG00000054938			24168	protein-coding gene	gene with protein product		613127				12853144, 12975309	Standard	NM_015424		Approved	BNF1	uc001ovh.3	Q6WN34	OTTHUMG00000165623	ENST00000376332.3:c.369C>A	11.37:g.74421957G>T						CHRDL2_ENST00000534159.1_5'UTR|CHRDL2_ENST00000263671.5_Silent_p.I123I	p.I123I	NM_001278473.1	NP_001265402.1	Q6WN34	CRDL2_HUMAN			4	865	-	Hepatocellular(1;0.098)		123			VWFC 2.		A5PKU9|Q6WN30|Q6WN31|Q6WN32|Q7Z5J3	Silent	SNP	ENST00000376332.3	37	c.369C>A																																																																																					0.622	CHRDL2-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000385391.1			6	54	1	0	8.12818e-05	1	8.31433e-05	6	54					T	74421957	G	T	74421957	2	4	26	1	0	0	0	0	0	0	0	1	3374	932	33	5		5	CHRDL2	11	74421957	Silent	SNP	G	TCGA-CH-5754-01A-11D-1576-08	7248799	74421957	60584559	65	1197											
INTS4	92105	broad.mit.edu	37	chr11	77702308	77702308	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgcagatttacttggttttGttagtcggagtttcttagta	7	19	10	5	1	1	1	0	0	1	1	2	2	1	2	0	2	2	5	0	2	4	9			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr11:77702308G>C	ENST00000534064.1	-	2	126	c.92C>G	c.(91-93)aCa>aGa	p.T31R	INTS4_ENST00000527522.1_Missense_Mutation_p.T31R|INTS4_ENST00000529807.1_Missense_Mutation_p.T31R	NM_033547.3	NP_291025.3	Q96HW7	INT4_HUMAN	integrator complex subunit 4	31					snRNA processing (GO:0016180)	integrator complex (GO:0032039)		p.T31R(1)	INTS4/GAB2(2)	NS(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|prostate(5)|upper_aerodigestive_tract(1)	32	all_cancers(14;4.53e-19)|all_epithelial(13;1.73e-21)|Breast(9;2.71e-16)|Ovarian(111;0.152)		Epithelial(5;1.13e-46)|all cancers(3;8.92e-44)|BRCA - Breast invasive adenocarcinoma(5;8.4e-26)|OV - Ovarian serous cystadenocarcinoma(8;1.05e-23)			ACTTGGTTTTGTTAGTCGGAG	0.443																																						ENST00000534064.1																		INTS4/GAB2(2)	1	Substitution - Missense(1)	p.T31R(1)	prostate(1)	NS(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|prostate(5)|upper_aerodigestive_tract(1)	32						c.(91-93)aCa>aGa		integrator complex subunit 4							196	172	180					11																	77702308		2200	4292	6492	SO:0001583	missense	92105				snRNA processing	integrator complex	protein binding	g.chr11:77702308G>C	BC015664	CCDS31644.1	11q14.1	2006-04-26			ENSG00000149262	ENSG00000149262			25048	protein-coding gene	gene with protein product		611348				16239144	Standard	NM_033547		Approved	INT4, MGC16733, MST093	uc001oys.3	Q96HW7	OTTHUMG00000166629	ENST00000534064.1:c.92C>G	11.37:g.77702308G>C	ENSP00000434466:p.Thr31Arg					INTS4_ENST00000529807.1_Missense_Mutation_p.T31R|INTS4_ENST00000527522.1_Missense_Mutation_p.T31R	p.T31R	NM_033547.3	NP_291025.3	Q96HW7	INT4_HUMAN	Epithelial(5;1.13e-46)|all cancers(3;8.92e-44)|BRCA - Breast invasive adenocarcinoma(5;8.4e-26)|OV - Ovarian serous cystadenocarcinoma(8;1.05e-23)		2	126	-	all_cancers(14;4.53e-19)|all_epithelial(13;1.73e-21)|Breast(9;2.71e-16)|Ovarian(111;0.152)		31					Q2YD62|Q6PJG4|Q7Z4E7|Q96G32|Q96GA1|Q9BRC0	Missense_Mutation	SNP	ENST00000534064.1	37	c.92C>G	CCDS31644.1	.	.	.	.	.	.	.	.	.	.	G	26.6	4.749099	0.89753	.	.	ENSG00000149262	ENST00000534064;ENST00000529807;ENST00000527522	.	.	.	5.41	5.41	0.78517	.	0.056032	0.64402	D	0.000002	T	0.56906	0.2017	L	0.50333	1.59	0.80722	D	1	P	0.50272	0.933	B	0.41860	0.368	T	0.63902	-0.6532	9	0.87932	D	0	-17.0962	19.3872	0.94563	0.0:0.0:1.0:0.0	.	31	Q96HW7	INT4_HUMAN	R	31	.	ENSP00000407787:T31R	T	-	2	0	INTS4	77379956	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.953000	0.93041	2.815000	0.96918	0.643000	0.83706	ACA		0.443	INTS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390927.1	NM_033547		50	125	0	0	0	1	0	50	125					C	77702308	G	C	77702308	3	2	26	1	0	0	0	0	1	0	0	0	7780	1377	48	5	2887	5	INTS4	11	77702308	Missense_Mutation	SNP	G	TCGA-CH-5754-01A-11D-1576-08	3280351	77702308	57304208	66	1198											
FAT3	120114	broad.mit.edu	37	chr11	92570900	92570900	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atgtcatcaactgcaactgtCaacattgatatttctgatgt	12	15	6	8	0	4	2	3	2	1	0	4	2	4	2	0	0	4	1	0	0	4	3			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr11:92570900C>T	ENST00000298047.6	+	16	10313	c.10296C>T	c.(10294-10296)gtC>gtT	p.V3432V	FAT3_ENST00000409404.2_Silent_p.V3432V|FAT3_ENST00000525166.1_Silent_p.V3282V			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	3432	Cadherin 31. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.V3432V(2)|p.V7V(1)		NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				CTGCAACTGTCAACATTGATA	0.463										TCGA Ovarian(4;0.039)																												ENST00000298047.6																			3	Substitution - coding silent(3)	p.V3432V(2)|p.V7V(1)	prostate(3)	NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85						c.(10294-10296)gtC>gtT		FAT atypical cadherin 3							128	127	127					11																	92570900		1991	4174	6165	SO:0001819	synonymous_variant	120114				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr11:92570900C>T	AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"Cadherins / Cadherin-related"	23112	protein-coding gene	gene with protein product	"cadherin-related family member 10"	612483	"FAT tumor suppressor homolog 3 (Drosophila)"			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.10296C>T	11.37:g.92570900C>T		TCGA Ovarian(4;0.039)				FAT3_ENST00000525166.1_Silent_p.V3282V|FAT3_ENST00000409404.2_Silent_p.V3432V	p.V3432V			Q8TDW7	FAT3_HUMAN			16	10313	+		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)	3432			Cadherin 31.		B5MDB0|Q96AU6	Silent	SNP	ENST00000298047.6	37	c.10296C>T																																																																																					0.463	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781		32	66	0	0	0	1	0	32	66					T	92570900	C	T	92570900	2	4	26	1	0	0	0	0	0	0	0	1	5691	813	29	3		3	FAT3	11	92570900	Silent	SNP	C	TCGA-CH-5754-01A-11D-1576-08	14868592	92570900	42435616	67	1199											
KIAA1377	57562	broad.mit.edu	37	chr11	101832589	101832589	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttaataaggagcattccacaTccatccagcggaataccatt	14	10	6	11	1	0	0	0	0	0	0	3	2	3	2	4	2	3	1	4	2	4	5			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr11:101832589T>C	ENST00000263468.8	+	6	1093	c.823T>C	c.(823-825)Tcc>Ccc	p.S275P	KIAA1377_ENST00000537689.1_Missense_Mutation_p.S76P	NM_020802.2	NP_065853.2	Q9P2H0	K1377_HUMAN	KIAA1377	275			S -> Y (in dbSNP:rs11225089).					p.S275P(1)		breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(18)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	53	all_epithelial(12;0.0104)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00931)		BRCA - Breast invasive adenocarcinoma(274;0.038)		GCATTCCACATCCATCCAGCG	0.373																																						ENST00000263468.8																			1	Substitution - Missense(1)	p.S275P(1)	prostate(1)	breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(18)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	53						c.(823-825)Tcc>Ccc		KIAA1377							70	69	69					11																	101832589		2203	4299	6502	SO:0001583	missense	57562						protein binding	g.chr11:101832589T>C	AK095004	CCDS31658.1	11q22.2	2006-02-03			ENSG00000110318	ENSG00000110318			29264	protein-coding gene	gene with protein product		614634				10718198	Standard	XM_005271627		Approved		uc001pgm.3	Q9P2H0	OTTHUMG00000167319	ENST00000263468.8:c.823T>C	11.37:g.101832589T>C	ENSP00000263468:p.Ser275Pro					KIAA1377_ENST00000537689.1_Missense_Mutation_p.S76P	p.S275P	NM_020802.2	NP_065853.2	Q9P2H0	K1377_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.038)	6	1093	+	all_epithelial(12;0.0104)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00931)	275		S -> Y (in dbSNP:rs11225089).			Q4G0U6	Missense_Mutation	SNP	ENST00000263468.8	37	c.823T>C	CCDS31658.1	.	.	.	.	.	.	.	.	.	.	T	2.811	-0.246867	0.05867	.	.	ENSG00000110318	ENST00000263468;ENST00000537689	T;T	0.08984	3.03;3.03	5.79	0.367	0.16140	.	0.872596	0.09897	N	0.741566	T	0.10121	0.0248	M	0.73598	2.24	0.09310	N	1	B	0.17667	0.023	B	0.16722	0.016	T	0.39396	-0.9616	10	0.56958	D	0.05	-0.4923	2.0185	0.03504	0.1061:0.2089:0.2148:0.4702	.	275	Q9P2H0	K1377_HUMAN	P	275;76	ENSP00000263468:S275P;ENSP00000443184:S76P	ENSP00000263468:S275P	S	+	1	0	KIAA1377	101337799	0.018000	0.18449	0.008000	0.14137	0.168000	0.22595	0.359000	0.20233	0.126000	0.18424	0.533000	0.62120	TCC		0.373	KIAA1377-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394140.1	NM_020802		42	90	0	0	0	1	0	42	90					C	101832589	T	C	101832589	3	2	26	1	0	0	0	0	1	0	0	0	8227	1435	50	4	845	4	KIAA1377	11	101832589	Missense_Mutation	SNP	T	TCGA-CH-5754-01A-11D-1576-08	9261689	101832589	33173927	68	1200											
FAM90A1	55138	broad.mit.edu	37	chr12	8374854	8374854	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccccagctcacctccctggAtggcgctttcggggatctgg	4	9	12	16	2	2	0	1	0	1	0	4	2	3	2	4	5	1	2	4	5	0	1			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr12:8374854A>G	ENST00000538603.1	-	7	1517	c.959T>C	c.(958-960)aTc>aCc	p.I320T	FAM90A1_ENST00000307435.6_Missense_Mutation_p.I320T	NM_018088.3	NP_060558.3	Q86YD7	F90A1_HUMAN	family with sequence similarity 90, member A1	320							nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)	p.I320T(1)		endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	25				Kidney(36;0.0866)		ACCTCCCTGGATGGCGCTTTC	0.642																																						ENST00000538603.1																			1	Substitution - Missense(1)	p.I320T(1)	prostate(1)	endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	25						c.(958-960)aTc>aCc		family with sequence similarity 90, member A1							12	14	13					12																	8374854		2037	4070	6107	SO:0001583	missense	55138						nucleic acid binding|zinc ion binding	g.chr12:8374854A>G	AK001270	CCDS31738.1	12p13.31	2011-08-31		2005-11-20	ENSG00000171847	ENSG00000171847			25526	protein-coding gene	gene with protein product		613041					Standard	NM_018088		Approved	FLJ10408	uc001qui.2	Q86YD7	OTTHUMG00000168641	ENST00000538603.1:c.959T>C	12.37:g.8374854A>G	ENSP00000445418:p.Ile320Thr					FAM90A1_ENST00000307435.6_Missense_Mutation_p.I320T	p.I320T	NM_018088.3	NP_060558.3	Q86YD7	F90A1_HUMAN		Kidney(36;0.0866)	7	1517	-			320					D3DUU9|Q9NVZ6	Missense_Mutation	SNP	ENST00000538603.1	37	c.959T>C	CCDS31738.1	.	.	.	.	.	.	.	.	.	.	.	0	-2.867541	0.00063	.	.	ENSG00000171847	ENST00000307435;ENST00000538603	T;T	0.11385	2.78;2.78	1.02	-2.04	0.07343	.	.	.	.	.	T	0.03871	0.0109	N	0.10809	0.05	0.09310	N	1	B	0.25169	0.119	B	0.28991	0.097	T	0.38067	-0.9678	9	0.02654	T	1	5.0E-4	3.0048	0.06025	0.3897:0.3773:0.233:0.0	.	320	Q86YD7	F90A1_HUMAN	T	320	ENSP00000307798:I320T;ENSP00000445418:I320T	ENSP00000307798:I320T	I	-	2	0	FAM90A1	8266121	0.016000	0.18221	0.000000	0.03702	0.006000	0.05464	0.296000	0.19083	-2.088000	0.00861	-1.285000	0.01374	ATC		0.642	FAM90A1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400468.1	NM_018088		4	47	0	0	0	1	0	4	47					G	8374854	A	G	8374854	3	3	26	1	0	0	0	0	1	0	0	0	5650	333	12	4	439	4	FAM90A1	12	8374854	Missense_Mutation	SNP	A	TCGA-CH-5754-01A-11D-1576-08		8374854	125477041	69	1201											
ANO4	121601	broad.mit.edu	37	chr12	101473041	101473041	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gactgggatttgatagactgGgaagaagaggaggtttgtat	12	11	16	2	0	0	4	0	1	0	3	0	8	0	7	0	4	0	2	0	4	4	4			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr12:101473041G>C	ENST00000392977.3	+	15	1593	c.1383G>C	c.(1381-1383)tgG>tgC	p.W461C	ANO4_ENST00000392979.3_Missense_Mutation_p.W426C|ANO4_ENST00000299222.9_Missense_Mutation_p.W28C|ANO4_ENST00000550015.1_Missense_Mutation_p.W28C			Q32M45	ANO4_HUMAN	anoctamin 4	461					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)	p.W426C(1)		NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						TGATAGACTGGGAAGAAGAGG	0.433										HNSCC(74;0.22)																												ENST00000392979.3																			1	Substitution - Missense(1)	p.W426C(1)	prostate(1)	NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						c.(1276-1278)tgG>tgC		anoctamin 4							140	135	137					12																	101473041		2203	4300	6503	SO:0001583	missense	121601					chloride channel complex	chloride channel activity	g.chr12:101473041G>C	AK091540	CCDS31884.1, CCDS66445.1	12q23.3	2014-04-09	2008-08-28	2008-08-28	ENSG00000151572	ENSG00000151572		"Ion channels / Chloride channels : Calcium activated : Anoctamins"	23837	protein-coding gene	gene with protein product		610111	"transmembrane protein 16D"	TMEM16D		12739008, 15067359, 24692353	Standard	NM_178826		Approved	FLJ34221, FLJ34272, FLJ35277	uc001thw.2	Q32M45		ENST00000392977.3:c.1383G>C	12.37:g.101473041G>C	ENSP00000376703:p.Trp461Cys	HNSCC(74;0.22)				ANO4_ENST00000392977.3_Missense_Mutation_p.W461C|ANO4_ENST00000299222.9_Missense_Mutation_p.W28C|ANO4_ENST00000550015.1_Missense_Mutation_p.W28C	p.W426C	NM_178826.3	NP_849148.2	Q32M45	ANO4_HUMAN			14	1639	+			461					Q8NAJ0|Q8NB39|Q8NB53	Missense_Mutation	SNP	ENST00000392977.3	37	c.1278G>C		.	.	.	.	.	.	.	.	.	.	G	19.92	3.915956	0.73098	.	.	ENSG00000151572	ENST00000392979;ENST00000299222;ENST00000392977;ENST00000550015	T;T;T;T	0.62639	0.01;0.01;0.01;0.01	5.03	5.03	0.67393	.	0.000000	0.85682	D	0.000000	T	0.79335	0.4428	M	0.72353	2.195	0.80722	D	1	D;D;D	0.89917	1.0;0.991;0.979	D;D;P	0.91635	0.999;0.948;0.889	T	0.81752	-0.0789	10	0.87932	D	0	.	18.7198	0.91688	0.0:0.0:1.0:0.0	.	28;461;426	Q32M45-3;Q32M45;Q32M45-2	.;ANO4_HUMAN;.	C	426;28;461;28	ENSP00000376705:W426C;ENSP00000299222:W28C;ENSP00000376703:W461C;ENSP00000450192:W28C	ENSP00000299222:W28C	W	+	3	0	ANO4	99997172	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.110000	0.94302	2.493000	0.84123	0.655000	0.94253	TGG		0.433	ANO4-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000409295.1	NM_178826		63	159	0	0	0	1	0	63	159					C	101473041	G	C	101473041	3	2	26	1	0	0	0	0	1	0	0	0	699	1241	43	5	1328	5	ANO4	12	101473041	Missense_Mutation	SNP	G	TCGA-CH-5754-01A-11D-1576-08	93098187	101473041	32378854	70	1202											
CUX2	23316	broad.mit.edu	37	chr12	111785947	111785947	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctccccatccccacctggcGccccccctgccaaagtgccg	5	6	7	23	2	1	0	0	0	1	0	3	0	2	0	10	1	2	0	10	1	1	0			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr12:111785947G>A	ENST00000261726.6	+	22	4433	c.4279G>A	c.(4279-4281)Gcc>Acc	p.A1427T		NM_015267.3	NP_056082.2	O14529	CUX2_HUMAN	cut-like homeobox 2	1427	Pro-rich.				cellular response to organic substance (GO:0071310)|cognition (GO:0050890)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of gene expression (GO:0010628)|positive regulation of synapse assembly (GO:0051965)|short-term memory (GO:0007614)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding (GO:0043565)	p.A1427T(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						CCCACCTGGCGCCCCCCCTGC	0.657																																						ENST00000261726.6																			1	Substitution - Missense(1)	p.A1427T(1)	prostate(1)	NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						c.(4279-4281)Gcc>Acc		cut-like homeobox 2							44	53	50					12																	111785947		2032	4169	6201	SO:0001583	missense	23316					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr12:111785947G>A	AB006631	CCDS41837.1	12q24.12	2011-06-20	2007-11-07	2007-11-07	ENSG00000111249	ENSG00000111249		"Homeoboxes / CUT class"	19347	protein-coding gene	gene with protein product		610648	"cut-like 2 (Drosophila)"	CUTL2			Standard	NM_015267		Approved	KIAA0293, CDP2	uc001tsa.2	O14529	OTTHUMG00000169546	ENST00000261726.6:c.4279G>A	12.37:g.111785947G>A	ENSP00000261726:p.Ala1427Thr						p.A1427T	NM_015267.3	NP_056082.2	O14529	CUX2_HUMAN			22	4433	+			1427			Pro-rich.		A7E2Y4	Missense_Mutation	SNP	ENST00000261726.6	37	c.4279G>A	CCDS41837.1	.	.	.	.	.	.	.	.	.	.	G	7.576	0.667832	0.14710	.	.	ENSG00000111249	ENST00000261726	T	0.46063	0.88	5.43	2.42	0.29668	.	0.372096	0.30193	N	0.010189	T	0.22820	0.0551	N	0.13043	0.29	0.27504	N	0.951905	B	0.09022	0.002	B	0.04013	0.001	T	0.14755	-1.0461	10	0.27785	T	0.31	-5.0495	8.6338	0.33935	0.3261:0.0:0.6739:0.0	.	1427	O14529	CUX2_HUMAN	T	1427	ENSP00000261726:A1427T	ENSP00000261726:A1427T	A	+	1	0	CUX2	110270330	0.000000	0.05858	0.461000	0.27105	0.986000	0.74619	0.099000	0.15210	0.195000	0.20347	0.655000	0.94253	GCC		0.657	CUX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404765.1	NM_015267		12	121	0	0	0	1	0	12	121					A	111785947	G	A	111785947	3	1	26	1	0	0	0	0	1	0	0	0	4065	1087	38	1	4365	1	CUX2	12	111785947	Missense_Mutation	SNP	G	TCGA-CH-5754-01A-11D-1576-08	10312906	111785947	22065948	71	1203											
BRCA2	675	broad.mit.edu	37	chr13	32906912	32906912	+	Frame_Shift_Del	DEL	A	A	-																															aagacctattagacacagagAacaaaagaaagaaagatttt																										TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr13:32906912delA	ENST00000380152.3	+	10	1530	c.1297delA	c.(1297-1299)aacfs	p.N433fs	BRCA2_ENST00000544455.1_Frame_Shift_Del_p.N433fs			P51587	BRCA2_HUMAN	breast cancer 2, early onset	433					brain development (GO:0007420)|cell aging (GO:0007569)|centrosome duplication (GO:0051298)|cytokinesis (GO:0000910)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|female gonad development (GO:0008585)|hemopoiesis (GO:0030097)|histone H3 acetylation (GO:0043966)|histone H4 acetylation (GO:0043967)|inner cell mass cell proliferation (GO:0001833)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|male meiosis I (GO:0007141)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|nucleotide-excision repair (GO:0006289)|oocyte maturation (GO:0001556)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cytokinesis (GO:0032465)|replication fork protection (GO:0048478)|response to gamma radiation (GO:0010332)|response to UV-C (GO:0010225)|response to X-ray (GO:0010165)|spermatogenesis (GO:0007283)	BRCA2-MAGE-D1 complex (GO:0033593)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)|secretory granule (GO:0030141)	gamma-tubulin binding (GO:0043015)|H3 histone acetyltransferase activity (GO:0010484)|H4 histone acetyltransferase activity (GO:0010485)|protease binding (GO:0002020)|single-stranded DNA binding (GO:0003697)			NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		AGACACAGAGAACAAAAGAAA	0.358			"D, Mis, N, F, S"		"breast, ovarian, pancreatic"	"breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)																											Esophageal Squamous(138;838 1285 7957 30353 30468 36915 49332)	ENST00000544455.1			yes	Rec	yes	Hereditary breast/ovarian cancer	13	13q12	675	"D, Mis, N, F, S"	familial breast/ovarian cancer gene 2			"L, E"		"breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"	"breast, ovarian, pancreatic"		0				NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183						c.(1297-1299)acfs	Homologous recombination	breast cancer 2, early onset							80	96	91					13																	32906912		2201	4296	6497	SO:0001589	frameshift_variant	675	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	Familial Cancer Database	incl.: Hereditary Pancreatic Adenocarcinoma, Insulin-Dependent Diabetes Mellitus - Exocrine Insufficiency - Familial Pancreatic Cancer, PNCA1;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;HPC; ;FANCD1;Pancytopenia Dysmelia, FA (several complementation groups)	cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding	g.chr13:32906912delA	U43746	CCDS9344.1	13q12-q13	2014-09-17	2003-10-14		ENSG00000139618	ENSG00000139618		"Fanconi anemia, complementation groups"	1101	protein-coding gene	gene with protein product	"BRCA1/BRCA2-containing complex, subunit 2"	600185	"Fanconi anemia, complementation group D1"	FANCD1, FACD, FANCD		8091231, 7581463, 15057823	Standard	NM_000059		Approved	FAD, FAD1, BRCC2	uc001uub.1	P51587	OTTHUMG00000017411	ENST00000380152.3:c.1297delA	13.37:g.32906912delA	ENSP00000369497:p.Asn433fs	TCGA Ovarian(8;0.087)				BRCA2_ENST00000380152.3_Frame_Shift_Del_p.N433fs	p.N433fs	NM_000059.3	NP_000050.2	P51587	BRCA2_HUMAN		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)	10	1524	+		Lung SC(185;0.0262)	433					O00183|O15008|Q13879|Q5TBJ7	Frame_Shift_Del	DEL	ENST00000380152.3	37	c.1297delA	CCDS9344.1																																																																																				0.358	BRCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046000.2	NM_000059		82	149						82	149	---	---	---	---	-	32906912	A	-	32906912	7	5	26	1	0	1	0	1	0	0	0	0	1499	246	9	0	1331	0	BRCA2	13	32906912	Frame_Shift_Del	DEL	A	TCGA-CH-5754-01A-11D-1576-08		32906912	82262966	72	1204											
FAM70B	348013	broad.mit.edu	37	chr13	114514745	114514745	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagttgcgccctcctctgccCtggcttcgtctgaggacctg	3	11	11	16	2	2	1	0	1	2	0	4	2	3	2	4	2	2	2	4	2	0	2			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr13:114514745C>T	ENST00000375353.3	+	9	877	c.850C>T	c.(850-852)Ctg>Ttg	p.L284L	TMEM255B_ENST00000467169.1_3'UTR	NM_182614.2	NP_872420.1	Q8WV15	T255B_HUMAN	transmembrane protein 255B	284	Pro-rich.					integral component of membrane (GO:0016021)		p.L284L(1)									CTCCTCTGCCCTGGCTTCGTC	0.657																																						ENST00000375353.3																			1	Substitution - coding silent(1)	p.L284L(1)	prostate(1)								c.(850-852)Ctg>Ttg		transmembrane protein 255B							50	56	54					13																	114514745		2203	4300	6503	SO:0001819	synonymous_variant	348013							g.chr13:114514745C>T	BC018995	CCDS45071.1	13q34	2012-11-30	2012-11-30	2012-11-30	ENSG00000184497	ENSG00000184497			28297	protein-coding gene	gene with protein product			"family with sequence similarity 70, member B"	FAM70B		12477932	Standard	NM_182614		Approved	MGC20579	uc001vuh.3	Q8WV15	OTTHUMG00000017398	ENST00000375353.3:c.850C>T	13.37:g.114514745C>T						TMEM255B_ENST00000467169.1_3'UTR	p.L284L	NM_182614.2	NP_872420.1					9	877	+									Silent	SNP	ENST00000375353.3	37	c.850C>T	CCDS45071.1																																																																																				0.657	TMEM255B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045953.4	NM_182614		39	107	0	0	0	1	0	39	107					T	114514745	C	T	114514745	2	4	26	1	0	0	0	0	0	0	0	1	5606	680	24	3		3	FAM70B	13	114514745	Silent	SNP	C	TCGA-CH-5754-01A-11D-1576-08	81607833	114514745	655133	73	1205											
PRMT5	10419	broad.mit.edu	37	chr14	23398392	23398392	+	Intron	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcacccctgcttctccgggaTgactagtctgcccttctccg	4	12	8	17	2	4	1	1	1	3	0	6	2	4	2	5	1	2	1	5	1	1	3			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr14:23398392T>A	ENST00000324366.8	-	1	334				PRMT5_ENST00000538452.1_5'UTR|PRMT5_ENST00000553641.1_Intron|PRMT5_ENST00000553897.1_Intron|RP11-298I3.1_ENST00000548819.1_RNA|PRMT5-AS1_ENST00000599580.2_RNA|PRMT5_ENST00000397440.4_Missense_Mutation_p.I15F|RP11-298I3.1_ENST00000548322.1_RNA|PRMT5-AS1_ENST00000590290.1_RNA|PRMT5_ENST00000216350.8_Missense_Mutation_p.I15F|PRMT5_ENST00000397441.2_Missense_Mutation_p.I15F|PRMT5-AS1_ENST00000595662.1_RNA|PRMT5-AS1_ENST00000587245.2_RNA	NM_006109.3	NP_006100.2	O14744	ANM5_HUMAN	protein arginine methyltransferase 5						cell proliferation (GO:0008283)|circadian regulation of gene expression (GO:0032922)|endothelial cell activation (GO:0042118)|gene expression (GO:0010467)|histone H4-R3 methylation (GO:0043985)|ncRNA metabolic process (GO:0034660)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|peptidyl-arginine methylation (GO:0018216)|peptidyl-arginine methylation, to symmetrical-dimethyl arginine (GO:0019918)|peptidyl-arginine N-methylation (GO:0035246)|regulation of mitosis (GO:0007088)|regulation of transcription, DNA-templated (GO:0006355)|RNA metabolic process (GO:0016070)|spliceosomal snRNP assembly (GO:0000387)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|methylosome (GO:0034709)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|core promoter sequence-specific DNA binding (GO:0001046)|histone-arginine N-methyltransferase activity (GO:0008469)|methyltransferase activity (GO:0008168)|protein-arginine omega-N symmetric methyltransferase activity (GO:0035243)|ribonucleoprotein complex binding (GO:0043021)|transcription corepressor activity (GO:0003714)	p.I15F(1)		endometrium(4)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	25	all_cancers(95;2.76e-05)			GBM - Glioblastoma multiforme(265;0.0126)		TTCTCCGGGATGACTAGTCTG	0.627																																						ENST00000397441.2																			1	Substitution - Missense(1)	p.I15F(1)	prostate(1)	endometrium(4)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	25						c.(43-45)Atc>Ttc		protein arginine methyltransferase 5							67	74	71					14																	23398392		2203	4300	6503	SO:0001627	intron_variant	10419				cell proliferation|histone H4-R3 methylation|ncRNA metabolic process|regulation of mitosis|spliceosomal snRNP assembly|transcription, DNA-dependent	cytosol|nucleus	histone-arginine N-methyltransferase activity|protein binding|protein-arginine omega-N symmetric methyltransferase activity|ribonucleoprotein binding	g.chr14:23398392T>A	AF015913	CCDS9579.1, CCDS41922.1, CCDS61394.1, CCDS61395.1, CCDS61396.1	14q11.2	2014-06-12	2006-02-16	2006-02-16	ENSG00000100462	ENSG00000100462	2.1.1.125	"Protein arginine methyltransferases"	10894	protein-coding gene	gene with protein product		604045	"skb1 (S. pombe) homolog", "SKB1 homolog (S. pombe)"	HRMT1L5, SKB1		9843966	Standard	NM_001282955		Approved	SKB1Hs	uc001whm.1	O14744	OTTHUMG00000028709	ENST00000324366.8:c.110+68A>T	14.37:g.23398392T>A						PRMT5_ENST00000553641.1_Intron|PRMT5_ENST00000216350.8_Missense_Mutation_p.I15F|PRMT5_ENST00000538452.1_5'UTR|PRMT5_ENST00000324366.8_Intron|PRMT5_ENST00000397440.4_Missense_Mutation_p.I15F|PRMT5_ENST00000553897.1_Intron	p.I15F	NM_001039619.1	NP_001034708.1	O14744	ANM5_HUMAN		GBM - Glioblastoma multiforme(265;0.0126)	1	218	-	all_cancers(95;2.76e-05)		0					A8MTP3|A8MZ91|B4DX49|B4DY30|B5BU10|D3DS33|E2QRE7|Q6IBR1|Q9UKH1	Missense_Mutation	SNP	ENST00000324366.8	37	c.43A>T	CCDS9579.1	.	.	.	.	.	.	.	.	.	.	T	7.209	0.594965	0.13875	.	.	ENSG00000100462	ENST00000397441;ENST00000397440;ENST00000216350	.	.	.	4.84	1.01	0.19927	.	.	.	.	.	T	0.19167	0.0460	N	0.14661	0.345	0.48341	D	0.999634	B;B;B	0.30763	0.038;0.002;0.294	B;B;B	0.21708	0.011;0.001;0.036	T	0.09975	-1.0650	8	0.09843	T	0.71	.	1.5917	0.02656	0.1721:0.0954:0.1792:0.5532	.	15;15;15	B4DX49;A8MTP3;A8MZ91	.;.;.	F	15	.	ENSP00000216350:I15F	I	-	1	0	PRMT5	22468232	0.704000	0.27836	0.204000	0.23530	0.574000	0.36063	0.348000	0.20031	0.014000	0.14944	0.460000	0.39030	ATC		0.627	PRMT5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071674.3			41	91	0	0	0	1	0	41	91					A	23398392	T	A	23398392	1	1	26	0	1	0	0	0	0	0	0	0	12539	1464	51	5		5	PRMT5	14	23398392	Intron	SNP	T	TCGA-CH-5754-01A-11D-1576-08		23398392	83951148	74	1206											
NYNRIN	57523	broad.mit.edu	37	chr14	24885319	24885319	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgcccaggggggtgggcagtGgtggagtttgccaaaggatg	7	8	20	6	0	0	0	0	0	0	0	0	2	0	2	2	7	2	2	2	7	1	1			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr14:24885319G>C	ENST00000382554.3	+	9	4682	c.4364G>C	c.(4363-4365)tGg>tCg	p.W1455S		NM_025081.2	NP_079357.2	Q9P2P1	NYNRI_HUMAN	NYN domain and retroviral integrase containing	1455					DNA integration (GO:0015074)	integral component of membrane (GO:0016021)	nucleic acid binding (GO:0003676)	p.W1455S(1)		breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						GGTGGGCAGTGGTGGAGTTTG	0.592																																						ENST00000382554.3																			1	Substitution - Missense(1)	p.W1455S(1)	prostate(1)	breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						c.(4363-4365)tGg>tCg		NYN domain and retroviral integrase containing							45	48	47					14																	24885319		2026	4164	6190	SO:0001583	missense	57523				DNA integration	integral to membrane	DNA binding	g.chr14:24885319G>C	AB037726	CCDS45090.1	14q11.2	2009-10-14	2009-10-14	2009-10-14		ENSG00000205978			20165	protein-coding gene	gene with protein product	"Cousin of GIN1"		"KIAA1305"	KIAA1305		19561090, 17114934	Standard	NM_025081		Approved	FLJ11811, CGIN1	uc001wpf.4	Q9P2P1		ENST00000382554.3:c.4364G>C	14.37:g.24885319G>C	ENSP00000371994:p.Trp1455Ser						p.W1455S	NM_025081.2	NP_079357.2	Q9P2P1	NYNRI_HUMAN			9	4682	+			1455					Q6P153|Q86TR3|Q9HAC4	Missense_Mutation	SNP	ENST00000382554.3	37	c.4364G>C	CCDS45090.1	.	.	.	.	.	.	.	.	.	.	G	9.255	1.041845	0.19748	.	.	ENSG00000205978	ENST00000382554	T	0.11930	2.73	5.39	0.947	0.19555	.	.	.	.	.	T	0.07818	0.0196	N	0.14661	0.345	0.19300	N	0.999977	B	0.06786	0.001	B	0.01281	0.0	T	0.34725	-0.9817	9	0.38643	T	0.18	.	8.3113	0.32073	0.0:0.3944:0.3086:0.297	.	1455	Q9P2P1	NYNRI_HUMAN	S	1455	ENSP00000371994:W1455S	ENSP00000371994:W1455S	W	+	2	0	NYNRIN	23955159	0.998000	0.40836	0.936000	0.37596	0.997000	0.91878	1.674000	0.37544	0.342000	0.23796	0.655000	0.94253	TGG		0.592	NYNRIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412939.1			36	62	0	0	0	1	0	36	62					C	24885319	G	C	24885319	3	2	26	1	0	0	0	0	1	0	0	0	10796	1357	47	5	4394	5	NYNRIN	14	24885319	Missense_Mutation	SNP	G	TCGA-CH-5754-01A-11D-1576-08	1486927	24885319	82464221	75	1207											
FSCB	84075	broad.mit.edu	37	chr14	44976183	44976183	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	catcagtttgctgggatttgCctaccattggtttgctgggt	5	16	12	8	0	1	0	1	0	0	0	1	1	1	1	2	3	4	4	2	3	1	5			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr14:44976183C>A	ENST00000340446.4	-	1	299	c.8G>T	c.(7-9)gGc>gTc	p.G3V	RP11-163M18.1_ENST00000556228.1_RNA|RP11-163M18.1_ENST00000557465.1_RNA|RP11-163M18.1_ENST00000555433.1_RNA	NM_032135.3	NP_115511.3	Q5H9T9	FSCB_HUMAN	fibrous sheath CABYR binding protein	3						sperm fibrous sheath (GO:0035686)|sperm principal piece (GO:0097228)	calcium ion binding (GO:0005509)	p.G3V(1)		breast(4)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(47)|ovary(2)|pancreas(1)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	89				GBM - Glioblastoma multiforme(112;0.128)		CTGGGATTTGCCTACCATTGG	0.413																																						ENST00000340446.4																			1	Substitution - Missense(1)	p.G3V(1)	prostate(1)	breast(4)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(47)|ovary(2)|pancreas(1)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	89						c.(7-9)gGc>gTc		fibrous sheath CABYR binding protein							245	231	236					14																	44976183		2203	4300	6503	SO:0001583	missense	84075					cilium		g.chr14:44976183C>A	AK124110	CCDS9679.1	14q21.3	2007-11-22	2007-11-22	2007-11-22	ENSG00000189139	ENSG00000189139			20494	protein-coding gene	gene with protein product		611779	"chromosome 14 open reading frame 155"	C14orf155		17855365	Standard	NM_032135		Approved	DKFZP434F1017	uc001wvn.3	Q5H9T9	OTTHUMG00000140262	ENST00000340446.4:c.8G>T	14.37:g.44976183C>A	ENSP00000344579:p.Gly3Val						p.G3V	NM_032135.3	NP_115511.3	Q5H9T9	FSCB_HUMAN		GBM - Glioblastoma multiforme(112;0.128)	1	299	-			3					Q5H9U7|Q86YI2|Q9H0J3	Missense_Mutation	SNP	ENST00000340446.4	37	c.8G>T	CCDS9679.1	.	.	.	.	.	.	.	.	.	.	C	10.97	1.500704	0.26861	.	.	ENSG00000189139	ENST00000340446;ENST00000537803	T	0.12879	2.64	5.4	4.25	0.50352	.	.	.	.	.	T	0.07458	0.0188	N	0.08118	0	0.35682	D	0.814117	B	0.10296	0.003	B	0.04013	0.001	T	0.11397	-1.0589	9	0.72032	D	0.01	-11.7569	8.5476	0.33430	0.0:0.0886:0.0:0.9114	.	3	Q5H9T9	FSCB_HUMAN	V	3	ENSP00000344579:G3V	ENSP00000344579:G3V	G	-	2	0	FSCB	44045933	1.000000	0.71417	0.996000	0.52242	0.611000	0.37282	2.244000	0.43124	0.993000	0.38866	-0.417000	0.06048	GGC		0.413	FSCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276788.1	NM_032135		105	274	1	0	4.98428e-49	1	6.07176e-49	105	274					A	44976183	C	A	44976183	3	1	26	1	0	0	0	0	1	0	0	0	6066	739	26	5	2473	5	FSCB	14	44976183	Missense_Mutation	SNP	C	TCGA-CH-5754-01A-11D-1576-08	20090864	44976183	62373357	76	1208											
FANCM	57697	broad.mit.edu	37	chr14	45639925	45639925	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cctcaagttcagttttcttcTttacaaaatgaggaaaacaa	15	13	5	8	0	4	1	2	1	2	0	4	2	4	2	1	1	2	2	1	1	7	6			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr14:45639925T>G	ENST00000267430.5	+	12	2221	c.2136T>G	c.(2134-2136)tcT>tcG	p.S712S	FANCM_ENST00000542564.2_Silent_p.S686S	NM_020937.2	NP_065988.1	Q8IYD8	FANCM_HUMAN	Fanconi anemia, complementation group M	712					DNA repair (GO:0006281)|replication fork processing (GO:0031297)|resolution of meiotic recombination intermediates (GO:0000712)	FANCM-MHF complex (GO:0071821)|Fanconi anaemia nuclear complex (GO:0043240)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|nuclease activity (GO:0004518)	p.S712S(1)		breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	85						AGTTTTCTTCTTTACAAAATG	0.323								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																													ENST00000267430.5																			1	Substitution - coding silent(1)	p.S712S(1)	prostate(1)	breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	85						c.(2134-2136)tcT>tcG	Involved in tolerance or repair of DNA crosslinks	Fanconi anemia, complementation group M							66	73	71					14																	45639925		2201	4295	6496	SO:0001819	synonymous_variant	57697	Fanconi Anemia	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	DNA repair	Fanconi anaemia nuclear complex	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|nuclease activity|protein binding	g.chr14:45639925T>G	AK001672	CCDS32070.1	14q21.3	2014-09-17	2005-09-01	2005-09-01		ENSG00000187790		"Fanconi anemia, complementation groups"	23168	protein-coding gene	gene with protein product		609644	"KIAA1596"	KIAA1596		10997877, 16116422	Standard	NM_020937		Approved	FAAP250	uc001wwd.4	Q8IYD8		ENST00000267430.5:c.2136T>G	14.37:g.45639925T>G						FANCM_ENST00000542564.2_Silent_p.S686S	p.S712S	NM_020937.2	NP_065988.1	Q8IYD8	FANCM_HUMAN			12	2221	+			712					B2RTQ9|Q3YFH9|Q8N9X6|Q9HCH6	Silent	SNP	ENST00000267430.5	37	c.2136T>G	CCDS32070.1																																																																																				0.323	FANCM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410474.1	XM_048128		62	122	0	0	0	1	0	62	122					G	45639925	T	G	45639925	2	3	26	1	0	0	0	0	0	0	0	1	5671	1596	56	5		5	FANCM	14	45639925	Silent	SNP	T	TCGA-CH-5754-01A-11D-1576-08	663742	45639925	61709615	77	1209											
PCNX	22990	broad.mit.edu	37	chr14	71514563	71514563	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	actgttgctggtttgaagttGctacgatcctcttttagcag	7	16	10	8	1	1	1	0	1	1	0	2	2	2	1	1	1	4	6	1	1	3	6			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr14:71514563G>A	ENST00000304743.2	+	22	4646	c.4200G>A	c.(4198-4200)ttG>ttA	p.L1400L	PCNX_ENST00000439984.3_Silent_p.L1289L|PCNX_ENST00000238570.5_Silent_p.L1400L	NM_014982.2	NP_055797.2	Q96RV3	PCX1_HUMAN	pecanex homolog (Drosophila)	1400						integral component of membrane (GO:0016021)		p.L1400L(1)		NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1)	87			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)		GTTTGAAGTTGCTACGATCCT	0.373																																						ENST00000304743.2																			1	Substitution - coding silent(1)	p.L1400L(1)	prostate(1)	NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1)	87						c.(4198-4200)ttG>ttA		pecanex homolog (Drosophila)							234	199	211					14																	71514563		2203	4300	6503	SO:0001819	synonymous_variant	22990					integral to membrane		g.chr14:71514563G>A	AF233450, AB018348	CCDS9806.1	14q24.2	2014-07-03							19740	protein-coding gene	gene with protein product			"pecanex-like 1 (Drosophila)"	PCNXL1		9244429, 15777640	Standard	NM_014982		Approved	KIAA0995, KIAA0805, pecanex	uc001xmo.2	Q96RV3		ENST00000304743.2:c.4200G>A	14.37:g.71514563G>A						PCNX_ENST00000439984.3_Silent_p.L1289L|PCNX_ENST00000238570.5_Silent_p.L1400L	p.L1400L	NM_014982.2	NP_055797.2	Q96RV3	PCX1_HUMAN	KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)	22	4646	+			1400					B2RTR6|O94897|Q96AI7|Q9Y2J9	Silent	SNP	ENST00000304743.2	37	c.4200G>A	CCDS9806.1	.	.	.	.	.	.	.	.	.	.	G	8.138	0.784534	0.16189	.	.	ENSG00000100731	ENST00000554691	.	.	.	5.32	4.41	0.53225	.	.	.	.	.	T	0.56702	0.2003	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.53373	-0.8448	4	.	.	.	.	6.8466	0.23992	0.139:0.1659:0.6951:0.0	.	.	.	.	Y	459	.	.	C	+	2	0	PCNX	70584316	1.000000	0.71417	0.998000	0.56505	0.851000	0.48451	2.303000	0.43646	2.640000	0.89533	0.591000	0.81541	TGC		0.373	PCNX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412479.1	NM_014982		46	233	0	0	0	1	0	46	233					A	71514563	G	A	71514563	2	1	26	1	0	0	0	0	0	0	0	1	11591	1310	46	3		3	PCNX	14	71514563	Silent	SNP	G	TCGA-CH-5754-01A-11D-1576-08	25874638	71514563	35834977	78	1210											
ZNF410	57862	broad.mit.edu	37	chr14	74370665	74370665	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tatgtgactctgttacaggaGaaaatgtccaccttggttct	10	14	9	8	0	2	2	0	1	2	1	3	3	3	2	2	2	1	2	2	2	4	4			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr14:74370665G>A	ENST00000555044.1	+	6	777	c.583G>A	c.(583-585)Gaa>Aaa	p.E195K	Y_RNA_ENST00000362602.1_RNA|ZNF410_ENST00000324593.6_Missense_Mutation_p.E195K|ZNF410_ENST00000442160.3_Missense_Mutation_p.E212K|RP5-1021I20.5_ENST00000554009.1_RNA|ZNF410_ENST00000540593.1_Missense_Mutation_p.E122K|ZNF410_ENST00000334521.4_Missense_Mutation_p.E142K|RP5-1021I20.4_ENST00000556551.2_3'UTR|RP5-1021I20.6_ENST00000602874.1_RNA|ZNF410_ENST00000412490.3_3'UTR	NM_001242928.1|NM_021188.2	NP_001229857.1|NP_067011.1	Q86VK4	ZN410_HUMAN	zinc finger protein 410	195					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.E195K(1)		breast(1)|endometrium(1)|large_intestine(3)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	13				BRCA - Breast invasive adenocarcinoma(234;0.00369)		TGTTACAGGAGAAAATGTCCA	0.428																																						ENST00000555044.1																			1	Substitution - Missense(1)	p.E195K(1)	prostate(1)	breast(1)|endometrium(1)|large_intestine(3)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	13						c.(583-585)Gaa>Aaa		zinc finger protein 410							97	88	91					14																	74370665		2203	4300	6503	SO:0001583	missense	57862				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr14:74370665G>A	U90919	CCDS9821.1, CCDS55929.1, CCDS55930.1, CCDS55931.1	14q24.3	2013-01-08				ENSG00000119725		"Zinc fingers, C2H2-type"	20144	protein-coding gene	gene with protein product						12370286	Standard	NM_001242924		Approved	APA1, APA-1	uc010arz.2	Q86VK4		ENST00000555044.1:c.583G>A	14.37:g.74370665G>A	ENSP00000451763:p.Glu195Lys					ZNF410_ENST00000324593.6_Missense_Mutation_p.E195K|RP5-1021I20.5_ENST00000554009.1_RNA|ZNF410_ENST00000540593.1_Missense_Mutation_p.E122K|ZNF410_ENST00000442160.3_Missense_Mutation_p.E212K|ZNF410_ENST00000412490.3_3'UTR|ZNF410_ENST00000334521.4_Missense_Mutation_p.E142K	p.E195K	NM_001242928.1|NM_021188.2	NP_001229857.1|NP_067011.1	Q86VK4	ZN410_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00369)	6	777	+			195					B4DDV5|B4DR78|O00153|Q9BQ19	Missense_Mutation	SNP	ENST00000555044.1	37	c.583G>A	CCDS9821.1	.	.	.	.	.	.	.	.	.	.	G	31	5.094557	0.94149	.	.	ENSG00000119725	ENST00000540593;ENST00000324593;ENST00000458102;ENST00000442160;ENST00000555044;ENST00000334521	T;T;T;T;T	0.08896	3.1;3.11;3.06;3.1;3.04	4.84	4.84	0.62591	.	0.000000	0.35646	U	0.003079	T	0.24470	0.0593	.	.	.	0.80722	D	1	D;D;D;P	0.71674	0.998;0.986;0.996;0.956	D;D;D;P	0.75484	0.986;0.968;0.981;0.899	T	0.01977	-1.1236	9	0.19590	T	0.45	.	18.1392	0.89633	0.0:0.0:1.0:0.0	.	122;212;195;195	B4DR78;B4DDV5;Q86VK4-3;Q86VK4	.;.;.;ZN410_HUMAN	K	122;195;184;212;195;142	ENSP00000442228:E122K;ENSP00000323293:E195K;ENSP00000407130:E212K;ENSP00000451763:E195K;ENSP00000334170:E142K	ENSP00000323293:E195K	E	+	1	0	ZNF410	73440418	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.944000	0.75940	2.523000	0.85059	0.655000	0.94253	GAA		0.428	ZNF410-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412597.1	NM_021188		39	105	0	0	0	1	0	39	105					A	74370665	G	A	74370665	3	1	26	1	0	0	0	0	1	0	0	0	17887	943	33	3	601	3	ZNF410	14	74370665	Missense_Mutation	SNP	G	TCGA-CH-5754-01A-11D-1576-08	2856102	74370665	32978875	79	1211											
C14orf166B	145497	broad.mit.edu	37	chr14	77294750	77294750	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gggagaattcggaaacagacCtggagattgaaggcgagcat	14	6	15	6	2	0	4	0	1	0	3	1	8	0	5	1	4	2	1	1	4	3	2			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr14:77294750C>A	ENST00000393774.3	+	2	329	c.205C>A	c.(205-207)Ctg>Atg	p.L69M	C14orf166B_ENST00000460005.1_3'UTR|C14orf166B_ENST00000216453.5_Missense_Mutation_p.L26M|C14orf166B_ENST00000450042.2_Missense_Mutation_p.L52M	NM_194287.2	NP_919263.2												p.L69M(1)		breast(1)|kidney(2)|large_intestine(3)|lung(9)|prostate(2)|skin(1)	18			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0306)		GGAAACAGACCTGGAGATTGA	0.532																																					Ovarian(165;1056 1958 32571 36789 48728)	ENST00000393774.3																			1	Substitution - Missense(1)	p.L69M(1)	prostate(1)	breast(1)|kidney(2)|large_intestine(3)|lung(9)|prostate(2)|skin(1)	18						c.(205-207)Ctg>Atg		chromosome 14 open reading frame 166B							61	62	61					14																	77294750		1903	4109	6012	SO:0001583	missense	145497							g.chr14:77294750C>A																												ENST00000393774.3:c.205C>A	14.37:g.77294750C>A	ENSP00000377369:p.Leu69Met					C14orf166B_ENST00000216453.5_Missense_Mutation_p.L26M|C14orf166B_ENST00000450042.2_Missense_Mutation_p.L52M|C14orf166B_ENST00000460005.1_3'UTR	p.L69M	NM_194287.2	NP_919263.2	Q0VAA2	CN16B_HUMAN	Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0306)	2	329	+			69						Missense_Mutation	SNP	ENST00000393774.3	37	c.205C>A	CCDS9853.2	.	.	.	.	.	.	.	.	.	.	C	17.20	3.329272	0.60743	.	.	ENSG00000100565	ENST00000393774;ENST00000555189;ENST00000450042;ENST00000216453	T;T	0.46063	0.88;1.76	5.83	5.83	0.93111	.	.	.	.	.	T	0.65270	0.2675	M	0.71581	2.175	0.31924	N	0.613082	D	0.89917	1.0	D	0.75020	0.985	T	0.69416	-0.5151	9	0.56958	D	0.05	.	17.8777	0.88830	0.0:1.0:0.0:0.0	.	69	Q0VAA2	CN16B_HUMAN	M	69;69;52;26	ENSP00000377369:L69M;ENSP00000396260:L52M	ENSP00000216450:L69M	L	+	1	2	C14orf166B	76364503	1.000000	0.71417	0.999000	0.59377	0.239000	0.25481	1.484000	0.35508	2.762000	0.94881	0.655000	0.94253	CTG		0.532	C14orf166B-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316592.1			27	89	1	0	1.7881e-09	1	1.9323e-09	27	89					A	77294750	C	A	77294750	3	1	26	1	0	0	0	0	1	0	0	0	1757	680	24	5	211	5	C14orf166B	14	77294750	Missense_Mutation	SNP	C	TCGA-CH-5754-01A-11D-1576-08	2924085	77294750	30054790	80	1212											
AQR	9716	broad.mit.edu	37	chr15	35185937	35185937	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgttggatatgatctgaactGccacatctgttttgcctgta	8	16	9	8	0	2	2	0	2	2	0	2	3	2	3	2	1	3	3	2	1	3	5			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr15:35185937G>A	ENST00000156471.5	-	23	2723	c.2498C>T	c.(2497-2499)gCa>gTa	p.A833V		NM_014691.2	NP_055506.1	O60306	AQR_HUMAN	aquarius intron-binding spliceosomal factor	833					mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.A833V(1)		breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(10)|lung(18)|ovary(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	57		Lung NSC(122;8.7e-10)|all_lung(180;1.47e-08)		all cancers(64;4.34e-18)|GBM - Glioblastoma multiforme(113;4.59e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0283)		GATCTGAACTGCCACATCTGT	0.413																																						ENST00000156471.5																			1	Substitution - Missense(1)	p.A833V(1)	prostate(1)	breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(10)|lung(18)|ovary(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	57						c.(2497-2499)gCa>gTa		aquarius intron-binding spliceosomal factor							260	260	260					15																	35185937		1967	4152	6119	SO:0001583	missense	9716					catalytic step 2 spliceosome	RNA binding	g.chr15:35185937G>A	AB011132	CCDS42013.1	15q13	2013-09-12	2013-09-12			ENSG00000021776			29513	protein-coding gene	gene with protein product	"functional spliceosome-associated protein 164"	610548	"aquarius homolog (mouse)"			9626505, 16949364	Standard	NM_014691		Approved	KIAA0560, fSAP164, IBP160	uc001ziv.3	O60306		ENST00000156471.5:c.2498C>T	15.37:g.35185937G>A	ENSP00000156471:p.Ala833Val						p.A833V	NM_014691.2	NP_055506.1	O60306	AQR_HUMAN		all cancers(64;4.34e-18)|GBM - Glioblastoma multiforme(113;4.59e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0283)	23	2723	-		Lung NSC(122;8.7e-10)|all_lung(180;1.47e-08)	833					A0JP17|A5YKK3|Q2YDX9|Q6IRU8|Q6PIC8	Missense_Mutation	SNP	ENST00000156471.5	37	c.2498C>T	CCDS42013.1	.	.	.	.	.	.	.	.	.	.	G	28.3	4.908370	0.92107	.	.	ENSG00000021776	ENST00000156471;ENST00000543879	T	0.80909	-1.43	5.57	4.64	0.57946	.	0.048018	0.85682	D	0.000000	D	0.87505	0.6194	L	0.58354	1.805	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.86872	0.2036	10	0.39692	T	0.17	-16.7041	16.4088	0.83699	0.0:0.1318:0.8682:0.0	.	833	O60306	AQR_HUMAN	V	833	ENSP00000156471:A833V	ENSP00000156471:A833V	A	-	2	0	AQR	32973229	1.000000	0.71417	0.997000	0.53966	0.916000	0.54674	9.837000	0.99465	1.339000	0.45563	0.655000	0.94253	GCA		0.413	AQR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417526.2	NM_014691		70	144	0	0	0	1	0	70	144					A	35185937	G	A	35185937	3	1	26	1	0	0	0	0	1	0	0	0	835	1319	46	3	2011	3	AQR	15	35185937	Missense_Mutation	SNP	G	TCGA-CH-5754-01A-11D-1576-08		35185937	67345455	81	1213											
AQR	9716	broad.mit.edu	37	chr15	35185966	35185966	+	Silent	SNP	G	G	C																															gttttgcctgtaccaggtggGcccacaacctaaaaagaaga																								rs564319625	byFrequency	TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr15:35185966G>C	ENST00000156471.5	-	23	2694	c.2469C>G	c.(2467-2469)ggC>ggG	p.G823G		NM_014691.2	NP_055506.1	O60306	AQR_HUMAN	aquarius intron-binding spliceosomal factor	823					mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.G823G(2)		breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(10)|lung(18)|ovary(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	57		Lung NSC(122;8.7e-10)|all_lung(180;1.47e-08)		all cancers(64;4.34e-18)|GBM - Glioblastoma multiforme(113;4.59e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0283)		TACCAGGTGGGCCCACAACCT	0.398																																						ENST00000156471.5																			2	Substitution - coding silent(2)	p.G823G(2)	prostate(1)|endometrium(1)	breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(10)|lung(18)|ovary(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	57						c.(2467-2469)ggC>ggG		aquarius intron-binding spliceosomal factor							204	201	202					15																	35185966		1924	4139	6063	SO:0001819	synonymous_variant	9716					catalytic step 2 spliceosome	RNA binding	g.chr15:35185966G>C	AB011132	CCDS42013.1	15q13	2013-09-12	2013-09-12			ENSG00000021776			29513	protein-coding gene	gene with protein product	"functional spliceosome-associated protein 164"	610548	"aquarius homolog (mouse)"			9626505, 16949364	Standard	NM_014691		Approved	KIAA0560, fSAP164, IBP160	uc001ziv.3	O60306		ENST00000156471.5:c.2469C>G	15.37:g.35185966G>C							p.G823G	NM_014691.2	NP_055506.1	O60306	AQR_HUMAN		all cancers(64;4.34e-18)|GBM - Glioblastoma multiforme(113;4.59e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0283)	23	2694	-		Lung NSC(122;8.7e-10)|all_lung(180;1.47e-08)	823					A0JP17|A5YKK3|Q2YDX9|Q6IRU8|Q6PIC8	Silent	SNP	ENST00000156471.5	37	c.2469C>G	CCDS42013.1																																																																																				0.398	AQR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417526.2	NM_014691		42	123	0	0	0	1	0	42	123					C	35185966	G	C	35185966	2	2	26	1	0	0	0	0	0	0	0	1	835	1190	42	5		5	AQR	15	35185966	Silent	SNP	G	TCGA-CH-5754-01A-11D-1576-08	29	35185966	67345426	82	1214	6	2									
AQR	9716	broad.mit.edu	37	chr15	35185970	35185970	+	Missense_Mutation	SNP	A	A	C																															tgcctgtaccaggtgggcccAcaacctaaaaagaagatgaa																										TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr15:35185970A>C	ENST00000156471.5	-	23	2690	c.2465T>G	c.(2464-2466)gTg>gGg	p.V822G		NM_014691.2	NP_055506.1	O60306	AQR_HUMAN	aquarius intron-binding spliceosomal factor	822					mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.V822G(1)		breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(10)|lung(18)|ovary(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	57		Lung NSC(122;8.7e-10)|all_lung(180;1.47e-08)		all cancers(64;4.34e-18)|GBM - Glioblastoma multiforme(113;4.59e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0283)		AGGTGGGCCCACAACCTAAAA	0.393																																						ENST00000156471.5																			1	Substitution - Missense(1)	p.V822G(1)	prostate(1)	breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(10)|lung(18)|ovary(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	57						c.(2464-2466)gTg>gGg		aquarius intron-binding spliceosomal factor							198	193	194					15																	35185970		1911	4138	6049	SO:0001583	missense	9716					catalytic step 2 spliceosome	RNA binding	g.chr15:35185970A>C	AB011132	CCDS42013.1	15q13	2013-09-12	2013-09-12			ENSG00000021776			29513	protein-coding gene	gene with protein product	"functional spliceosome-associated protein 164"	610548	"aquarius homolog (mouse)"			9626505, 16949364	Standard	NM_014691		Approved	KIAA0560, fSAP164, IBP160	uc001ziv.3	O60306		ENST00000156471.5:c.2465T>G	15.37:g.35185970A>C	ENSP00000156471:p.Val822Gly						p.V822G	NM_014691.2	NP_055506.1	O60306	AQR_HUMAN		all cancers(64;4.34e-18)|GBM - Glioblastoma multiforme(113;4.59e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0283)	23	2690	-		Lung NSC(122;8.7e-10)|all_lung(180;1.47e-08)	822					A0JP17|A5YKK3|Q2YDX9|Q6IRU8|Q6PIC8	Missense_Mutation	SNP	ENST00000156471.5	37	c.2465T>G	CCDS42013.1	.	.	.	.	.	.	.	.	.	.	A	21.3	4.132021	0.77662	.	.	ENSG00000021776	ENST00000156471;ENST00000543879	D	0.82344	-1.6	5.57	4.43	0.53597	.	0.055226	0.64402	D	0.000001	D	0.91885	0.7431	M	0.90814	3.15	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.92334	0.5876	10	0.72032	D	0.01	-15.8434	11.9319	0.52851	0.8696:0.0:0.0:0.1304	.	822	O60306	AQR_HUMAN	G	822	ENSP00000156471:V822G	ENSP00000156471:V822G	V	-	2	0	AQR	32973262	1.000000	0.71417	1.000000	0.80357	0.912000	0.54170	9.310000	0.96267	0.920000	0.36970	0.533000	0.62120	GTG		0.393	AQR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417526.2	NM_014691		41	123	0	0	0	1	0	41	123					C	35185970	A	C	35185970	3	2	26	1	0	0	0	0	1	0	0	0	835	159	6	5	2044	5	AQR	15	35185970	Missense_Mutation	SNP	A	TCGA-CH-5754-01A-11D-1576-08	4	35185970	67345422	83	1215	6	2									
TTBK2	146057	broad.mit.edu	37	chr15	43044437	43044437	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agtagctagtttctcctctaGcaatttatcagaggcacttg	10	14	8	9	0	3	1	1	0	2	1	4	1	3	1	1	1	2	5	1	1	5	7			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr15:43044437G>C	ENST00000267890.6	-	14	3115	c.3007C>G	c.(3007-3009)Cta>Gta	p.L1003V		NM_173500.3	NP_775771.3	Q6IQ55	TTBK2_HUMAN	tau tubulin kinase 2	1003					cell death (GO:0008219)|cilium assembly (GO:0042384)|peptidyl-serine phosphorylation (GO:0018105)|smoothened signaling pathway (GO:0007224)	centriole (GO:0005814)|ciliary basal body (GO:0036064)|ciliary transition zone (GO:0035869)|cytosol (GO:0005829)|extracellular space (GO:0005615)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.L1003V(1)		NS(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	43		all_cancers(109;6.11e-16)|all_epithelial(112;5.5e-14)|Lung NSC(122;1.76e-08)|all_lung(180;6.04e-08)|Melanoma(134;0.0179)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;3.23e-07)		TTCTCCTCTAGCAATTTATCA	0.468																																						ENST00000267890.6																			1	Substitution - Missense(1)	p.L1003V(1)	prostate(1)	NS(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	43						c.(3007-3009)Cta>Gta		tau tubulin kinase 2							96	92	94					15																	43044437		1900	4117	6017	SO:0001583	missense	146057				cell death		ATP binding|protein serine/threonine kinase activity	g.chr15:43044437G>C	AB020654	CCDS42029.1	15q15.2	2014-01-21			ENSG00000128881	ENSG00000128881			19141	protein-coding gene	gene with protein product		611695	"spinocerebellar ataxia 11"	SCA11		10048485	Standard	NM_173500		Approved	KIAA0847	uc001zqo.2	Q6IQ55	OTTHUMG00000175802	ENST00000267890.6:c.3007C>G	15.37:g.43044437G>C	ENSP00000267890:p.Leu1003Val						p.L1003V	NM_173500.3	NP_775771.3	Q6IQ55	TTBK2_HUMAN		GBM - Glioblastoma multiforme(94;3.23e-07)	14	3115	-		all_cancers(109;6.11e-16)|all_epithelial(112;5.5e-14)|Lung NSC(122;1.76e-08)|all_lung(180;6.04e-08)|Melanoma(134;0.0179)|Colorectal(260;0.216)	1003					O94932|Q6ZN52|Q8IVV1	Missense_Mutation	SNP	ENST00000267890.6	37	c.3007C>G	CCDS42029.1	.	.	.	.	.	.	.	.	.	.	G	10.88	1.476056	0.26511	.	.	ENSG00000128881	ENST00000267890;ENST00000399479;ENST00000263802	T	0.38560	1.13	5.78	2.75	0.32379	.	0.222890	0.30999	N	0.008451	T	0.32346	0.0826	L	0.43152	1.355	0.80722	D	1	B;B	0.21381	0.055;0.033	B;B	0.21917	0.037;0.016	T	0.12400	-1.0549	10	0.51188	T	0.08	.	7.5568	0.27829	0.0664:0.117:0.6887:0.1279	.	934;1003	Q6IQ55-2;Q6IQ55	.;TTBK2_HUMAN	V	1003;933;1408	ENSP00000267890:L1003V	ENSP00000263802:L1408V	L	-	1	2	TTBK2	40831729	1.000000	0.71417	0.999000	0.59377	0.982000	0.71751	1.885000	0.39678	0.726000	0.32339	0.563000	0.77884	CTA		0.468	TTBK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000431106.2	NM_173500		13	150	0	0	0	1	0	13	150					C	43044437	G	C	43044437	3	2	26	1	0	0	0	0	1	0	0	0	16674	962	34	5	735	5	TTBK2	15	43044437	Missense_Mutation	SNP	G	TCGA-CH-5754-01A-11D-1576-08	7858467	43044437	59486955	84	1216											
UNC13C	440279	broad.mit.edu	37	chr15	54305247	54305247	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacttccccactgctggccaGaccaaatcccccaaattttc	10	9	5	17	0	0	1	0	0	0	1	3	2	2	1	6	1	1	1	6	1	2	3			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr15:54305247G>T	ENST00000260323.11	+	1	147	c.147G>T	c.(145-147)caG>caT	p.Q49H	UNC13C_ENST00000545554.1_Missense_Mutation_p.Q49H|UNC13C_ENST00000537900.1_Missense_Mutation_p.Q49H	NM_001080534.1	NP_001074003.1	Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	49					exocytosis (GO:0006887)|intracellular signal transduction (GO:0035556)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)	p.Q49H(2)		breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		CTGCTGGCCAGACCAAATCCC	0.398																																						ENST00000545554.1																			2	Substitution - Missense(2)	p.Q49H(2)	prostate(2)	breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121						c.(145-147)caG>caT		unc-13 homolog C (C. elegans)							96	99	98					15																	54305247		1842	4080	5922	SO:0001583	missense	440279				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding	g.chr15:54305247G>T	AK091491	CCDS45264.1	15q21.3	2012-10-02			ENSG00000137766	ENSG00000137766			23149	protein-coding gene	gene with protein product		614568					Standard	NM_001080534		Approved	Munc13-3, DKFZp547H074	uc021smr.1	Q8NB66	OTTHUMG00000172542	ENST00000260323.11:c.147G>T	15.37:g.54305247G>T	ENSP00000260323:p.Gln49His					UNC13C_ENST00000260323.11_Missense_Mutation_p.Q49H|UNC13C_ENST00000537900.1_Missense_Mutation_p.Q49H	p.Q49H			Q8NB66	UN13C_HUMAN		GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)	1	147	+			49					Q0P613|Q8ND48|Q96NP3	Missense_Mutation	SNP	ENST00000260323.11	37	c.147G>T	CCDS45264.1	.	.	.	.	.	.	.	.	.	.	G	1.004	-0.689910	0.03328	.	.	ENSG00000137766	ENST00000260323;ENST00000545554;ENST00000537900	T;T;T	0.79749	-1.3;-1.3;-1.3	4.82	1.55	0.23275	.	.	.	.	.	T	0.59985	0.2234	N	0.08118	0	0.26701	N	0.971167	B	0.02656	0.0	B	0.04013	0.001	T	0.49744	-0.8907	9	0.39692	T	0.17	.	6.4354	0.21821	0.157:0.5452:0.2978:0.0	.	49	Q8NB66	UN13C_HUMAN	H	49	ENSP00000260323:Q49H;ENSP00000438156:Q49H;ENSP00000442569:Q49H	ENSP00000260323:Q49H	Q	+	3	2	UNC13C	52092539	0.999000	0.42202	0.895000	0.35142	0.132000	0.20833	0.704000	0.25661	0.388000	0.25054	0.655000	0.94253	CAG		0.398	UNC13C-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000419028.3	NM_173166		43	82	1	0	2.13384e-23	1	2.36309e-23	43	82					T	54305247	G	T	54305247	3	4	26	1	0	0	0	0	1	0	0	0	16983	933	33	5	149	5	UNC13C	15	54305247	Missense_Mutation	SNP	G	TCGA-CH-5754-01A-11D-1576-08	11260810	54305247	48226145	85	1217											
IGDCC3	9543	broad.mit.edu	37	chr15	65623027	65623027	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggccaaggctcccacagcagCtgcaaggaggagctgcccag	10	3	14	14	0	0	0	0	0	0	0	1	2	1	2	3	4	5	5	3	4	2	0			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr15:65623027C>G	ENST00000327987.4	-	10	1865	c.1614G>C	c.(1612-1614)caG>caC	p.Q538H	IGDCC3_ENST00000559231.1_5'Flank	NM_004884.3	NP_004875.2	Q8IVU1	IGDC3_HUMAN	immunoglobulin superfamily, DCC subclass, member 3	538	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				neuromuscular process controlling balance (GO:0050885)	integral component of plasma membrane (GO:0005887)		p.Q538H(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(9)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						CCCACAGCAGCTGCAAGGAGG	0.657																																						ENST00000327987.4																			1	Substitution - Missense(1)	p.Q538H(1)	prostate(1)	breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(9)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						c.(1612-1614)caG>caC		immunoglobulin superfamily, DCC subclass, member 3							27	32	31					15																	65623027		2200	4299	6499	SO:0001583	missense	9543							g.chr15:65623027C>G	AF063936	CCDS10205.1	15q22.3-q23	2013-02-11	2009-01-08	2009-01-08	ENSG00000174498	ENSG00000174498		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	9700	protein-coding gene	gene with protein product		604184	"putative neuronal cell adhesion molecule"	PUNC		9922388	Standard	NM_004884		Approved	HsT18880	uc002aos.2	Q8IVU1	OTTHUMG00000133137	ENST00000327987.4:c.1614G>C	15.37:g.65623027C>G	ENSP00000332773:p.Gln538His						p.Q538H	NM_004884.3	NP_004875.2	Q8IVU1	IGDC3_HUMAN			10	1865	-			538			Fibronectin type-III 2.		O95215	Missense_Mutation	SNP	ENST00000327987.4	37	c.1614G>C	CCDS10205.1	.	.	.	.	.	.	.	.	.	.	C	18.31	3.596125	0.66332	.	.	ENSG00000174498	ENST00000327987;ENST00000443278	T	0.57595	0.39	5.38	4.45	0.53987	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.66470	0.2792	M	0.64567	1.98	0.45718	D	0.998629	D	0.89917	1.0	D	0.81914	0.995	T	0.65998	-0.6032	10	0.45353	T	0.12	-31.0763	10.4772	0.44672	0.0:0.8427:0.0:0.1573	.	538	Q8IVU1	IGDC3_HUMAN	H	538;401	ENSP00000332773:Q538H	ENSP00000332773:Q538H	Q	-	3	2	IGDCC3	63410080	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.206000	0.32321	1.235000	0.43724	0.655000	0.94253	CAG		0.657	IGDCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256826.1	NM_004884		9	22	0	0	0	1	0	9	22					G	65623027	C	G	65623027	3	3	26	1	0	0	0	0	1	0	0	0	7568	796	28	5	850	5	IGDCC3	15	65623027	Missense_Mutation	SNP	C	TCGA-CH-5754-01A-11D-1576-08	11317780	65623027	36908365	86	1218											
C15orf44	81556	broad.mit.edu	37	chr15	65890710	65890710	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ttcttcatctacaacaaaagGttctggcctggggaagactt	11	12	9	9	0	4	1	1	0	3	1	4	2	4	2	1	4	2	1	1	4	5	5			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr15:65890710G>C	ENST00000395644.4	-	6	1032	c.697C>G	c.(697-699)Cct>Gct	p.P233A	VWA9_ENST00000442903.3_Missense_Mutation_p.P197A|VWA9_ENST00000567744.1_Missense_Mutation_p.P269A|VWA9_ENST00000313182.2_Missense_Mutation_p.P233A|VWA9_ENST00000420799.2_Missense_Mutation_p.P176A|VWA9_ENST00000431261.2_Missense_Mutation_p.P154A|VWA9_ENST00000569491.1_Missense_Mutation_p.P184A			Q96SY0	VWA9_HUMAN	von Willebrand factor A domain containing 9	233								p.P233A(1)									ACAACAAAAGGTTCTGGCCTG	0.363																																						ENST00000395644.4																			1	Substitution - Missense(1)	p.P233A(1)	prostate(1)								c.(697-699)Cct>Gct		von Willebrand factor A domain containing 9							99	98	98					15																	65890710		2201	4299	6500	SO:0001583	missense	81556							g.chr15:65890710G>C	AL136662	CCDS55969.1, CCDS45283.1	15q22.31	2012-09-27	2012-09-27	2012-09-27	ENSG00000138614	ENSG00000138614			25372	protein-coding gene	gene with protein product			"chromosome 15 open reading frame 44"	C15orf44		11230166	Standard	NM_001136043		Approved	DKFZP564O1664	uc010uja.2	Q96SY0	OTTHUMG00000133159	ENST00000395644.4:c.697C>G	15.37:g.65890710G>C	ENSP00000379006:p.Pro233Ala					VWA9_ENST00000431261.2_Missense_Mutation_p.P154A|VWA9_ENST00000567744.1_Missense_Mutation_p.P269A|VWA9_ENST00000569491.1_Missense_Mutation_p.P184A|VWA9_ENST00000313182.2_Missense_Mutation_p.P233A|VWA9_ENST00000442903.3_Missense_Mutation_p.P197A|VWA9_ENST00000420799.2_Missense_Mutation_p.P176A	p.P233A							6	1032	-								B4DDI6|B4DVD5|Q49AH8|Q96HX5|Q9H0S5	Missense_Mutation	SNP	ENST00000395644.4	37	c.697C>G		.	.	.	.	.	.	.	.	.	.	G	20.4	3.978390	0.74360	.	.	ENSG00000138614	ENST00000395644;ENST00000313182;ENST00000431261;ENST00000420799;ENST00000442903	.	.	.	5.86	5.86	0.93980	.	0.000000	0.85682	D	0.000000	T	0.57373	0.2049	L	0.51422	1.61	0.80722	D	1	P;B;B;B	0.41450	0.75;0.073;0.104;0.104	B;B;B;B	0.40009	0.316;0.022;0.035;0.022	T	0.56366	-0.7991	9	0.40728	T	0.16	-9.3849	20.1931	0.98233	0.0:0.0:1.0:0.0	.	184;197;269;233	B4DWZ3;B4DVT3;B4DJL6;Q96SY0	.;.;.;CO044_HUMAN	A	233;233;154;176;197	.	ENSP00000326379:P233A	P	-	1	0	C15orf44	63677763	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	7.782000	0.85680	2.771000	0.95319	0.563000	0.77884	CCT		0.363	VWA9-201	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000420604.3	NM_030800		47	100	0	0	0	1	0	47	100					C	65890710	G	C	65890710	3	2	26	1	0	0	0	0	1	0	0	0	1798	1261	44	5	887	5	C15orf44	15	65890710	Missense_Mutation	SNP	G	TCGA-CH-5754-01A-11D-1576-08	267683	65890710	36640682	87	1219											
CSPG4	1464	broad.mit.edu	37	chr15	75981610	75981610	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggcgctccacggggaggccaGaggaggtgccaaggacctgg	8	3	19	11	2	0	1	0	0	0	1	1	4	1	4	4	8	1	1	4	8	1	0			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr15:75981610G>C	ENST00000308508.5	-	3	1888	c.1796C>G	c.(1795-1797)tCt>tGt	p.S599C		NM_001897.4	NP_001888.2	Q6UVK1	CSPG4_HUMAN	chondroitin sulfate proteoglycan 4	599	Globular or compact configuration stabilized by disulfide bonds.|Interaction with COL6A2. {ECO:0000250}.|Neurite growth inhibition. {ECO:0000250}.				activation of MAPK activity (GO:0000187)|angiogenesis (GO:0001525)|carbohydrate metabolic process (GO:0005975)|cell proliferation (GO:0008283)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|intracellular signal transduction (GO:0035556)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|small molecule metabolic process (GO:0044281)|tissue remodeling (GO:0048771)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell projection (GO:0042995)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)	protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)	p.S599C(1)		breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4)	48						GGGGAGGCCAGAGGAGGTGCC	0.672																																						ENST00000308508.5																			1	Substitution - Missense(1)	p.S599C(1)	prostate(1)	breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4)	48						c.(1795-1797)tCt>tGt		chondroitin sulfate proteoglycan 4							20	23	22					15																	75981610		2193	4288	6481	SO:0001583	missense	1464				angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling	apical plasma membrane|cell surface|integral to plasma membrane|intracellular|lamellipodium membrane	protein kinase binding|signal transducer activity	g.chr15:75981610G>C	X96753, AY359468	CCDS10284.1	15q24.2	2010-04-19	2007-02-16		ENSG00000173546	ENSG00000173546		"Proteoglycans / Cell surface : Other"	2466	protein-coding gene	gene with protein product	"melanoma-associated chondroitin sulfate proteoglycan"	601172	"chondroitin sulfate proteoglycan 4 (melanoma-associated)"			8790396, 16407841	Standard	NM_001897		Approved	MCSPG, MEL-CSPG, MSK16, NG2, MCSP, HMW-MAA	uc002baw.3	Q6UVK1	OTTHUMG00000142836	ENST00000308508.5:c.1796C>G	15.37:g.75981610G>C	ENSP00000312506:p.Ser599Cys						p.S599C	NM_001897.4	NP_001888.2	Q6UVK1	CSPG4_HUMAN			3	1888	-			599			Globular or compact configuration stabilized by disulfide bonds.|Interaction with COL6A2 (By similarity).|Neurite growth inhibition (By similarity).		D3DW77|Q92675	Missense_Mutation	SNP	ENST00000308508.5	37	c.1796C>G	CCDS10284.1	.	.	.	.	.	.	.	.	.	.	.	7.824	0.718403	0.15372	.	.	ENSG00000173546	ENST00000308508	T	0.20881	2.04	5.21	1.97	0.26223	.	1.679820	0.03131	N	0.165248	T	0.13543	0.0328	N	0.14661	0.345	0.09310	N	1	B	0.31859	0.343	B	0.34301	0.179	T	0.31110	-0.9955	10	0.66056	D	0.02	.	1.2849	0.02049	0.1802:0.1704:0.4451:0.2043	.	599	Q6UVK1	CSPG4_HUMAN	C	599	ENSP00000312506:S599C	ENSP00000312506:S599C	S	-	2	0	CSPG4	73768665	.	.	0.012000	0.15200	0.360000	0.29518	.	.	1.165000	0.42670	0.555000	0.69702	TCT		0.672	CSPG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286472.1	NM_001897		8	54	0	0	0	1	0	8	54					C	75981610	G	C	75981610	3	2	26	1	0	0	0	0	1	0	0	0	3960	942	33	5	5204	5	CSPG4	15	75981610	Missense_Mutation	SNP	G	TCGA-CH-5754-01A-11D-1576-08	10090900	75981610	26549782	88	1220											
IQGAP1	8826	broad.mit.edu	37	chr15	91016148	91016148	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaaggcctgatcaccaggcTgcaggctcgctgccgtggat	7	8	14	12	2	1	2	1	2	0	0	2	3	1	3	3	4	2	4	3	4	1	0			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr15:91016148T>A	ENST00000268182.5	+	19	2379	c.2255T>A	c.(2254-2256)cTg>cAg	p.L752Q	IQGAP1_ENST00000560738.1_Missense_Mutation_p.L180Q	NM_003870.3	NP_003861.1	P46940	IQGA1_HUMAN	IQ motif containing GTPase activating protein 1	752	IQ 1. {ECO:0000255|PROSITE- ProRule:PRU00116}.				cellular response to calcium ion (GO:0071277)|cellular response to epidermal growth factor stimulus (GO:0071364)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|glomerular visceral epithelial cell development (GO:0072015)|negative regulation of catalytic activity (GO:0043086)|negative regulation of dephosphorylation (GO:0035305)|neuron projection extension (GO:1990138)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|regulation of cytokine production (GO:0001817)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	actin filament (GO:0005884)|axon (GO:0030424)|cell junction (GO:0030054)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|extracellular vesicular exosome (GO:0070062)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|lateral plasma membrane (GO:0016328)|microtubule (GO:0005874)|midbody (GO:0030496)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|slit diaphragm (GO:0036057)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|GTPase activator activity (GO:0005096)|GTPase inhibitor activity (GO:0005095)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|protein serine/threonine kinase activator activity (GO:0043539)|Ras GTPase activator activity (GO:0005099)	p.L752Q(1)		breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	Melanoma(11;0.00551)|Lung NSC(78;0.0237)|all_lung(78;0.0488)		BRCA - Breast invasive adenocarcinoma(143;0.0745)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)			ATCACCAGGCTGCAGGCTCGC	0.498																																						ENST00000268182.5																			1	Substitution - Missense(1)	p.L752Q(1)	prostate(1)	breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59						c.(2254-2256)cTg>cAg		IQ motif containing GTPase activating protein 1							102	103	102					15																	91016148		2198	4298	6496	SO:0001583	missense	8826				energy reserve metabolic process|regulation of insulin secretion|small GTPase mediated signal transduction	actin filament|cytoplasm|midbody|nucleus|plasma membrane	calmodulin binding|GTPase inhibitor activity|protein phosphatase binding|Ras GTPase activator activity	g.chr15:91016148T>A	D29640	CCDS10362.1	15q26.1	2008-07-18			ENSG00000140575	ENSG00000140575			6110	protein-coding gene	gene with protein product	"RasGAP-like with IQ motifs"	603379				8051149, 8670801	Standard	XM_005254984		Approved	p195, KIAA0051, SAR1, HUMORFA01	uc002bpl.1	P46940	OTTHUMG00000149832	ENST00000268182.5:c.2255T>A	15.37:g.91016148T>A	ENSP00000268182:p.Leu752Gln					IQGAP1_ENST00000560738.1_Missense_Mutation_p.L180Q	p.L752Q	NM_003870.3	NP_003861.1	P46940	IQGA1_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0745)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)		19	2379	+	Melanoma(11;0.00551)|Lung NSC(78;0.0237)|all_lung(78;0.0488)		752			IQ 1.		A7MBM3	Missense_Mutation	SNP	ENST00000268182.5	37	c.2255T>A	CCDS10362.1	.	.	.	.	.	.	.	.	.	.	T	32	5.172805	0.94807	.	.	ENSG00000140575	ENST00000268182	T	0.32988	1.43	6.02	6.02	0.97574	.	0.000000	0.64402	D	0.000004	T	0.62829	0.2460	M	0.88640	2.97	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	T	0.70252	-0.4923	10	0.87932	D	0	-17.0613	15.7258	0.77756	0.0:0.0:0.0:1.0	.	752	P46940	IQGA1_HUMAN	Q	752	ENSP00000268182:L752Q	ENSP00000268182:L752Q	L	+	2	0	IQGAP1	88817152	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.927000	0.87577	2.311000	0.77944	0.533000	0.62120	CTG		0.498	IQGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313493.1	NM_003870		63	123	0	0	0	1	0	63	123					A	91016148	T	A	91016148	3	1	26	1	0	0	0	0	1	0	0	0	7814	1580	55	5	2329	5	IQGAP1	15	91016148	Missense_Mutation	SNP	T	TCGA-CH-5754-01A-11D-1576-08	15034538	91016148	11515244	89	1221											
MAPK8IP3	23162	broad.mit.edu	37	chr16	1816093	1816093	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cacccgctgcaacgtgccgcGgagcaactgctcctcccgag	7	5	11	18	5	0	0	0	0	0	0	2	2	2	1	4	1	6	4	4	1	2	0			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr16:1816093G>A	ENST00000250894.4	+	21	2733	c.2576G>A	c.(2575-2577)cGg>cAg	p.R859Q	MAPK8IP3_ENST00000356010.5_Missense_Mutation_p.R853Q	NM_015133.3	NP_055948.2	Q9UPT6	JIP3_HUMAN	mitogen-activated protein kinase 8 interacting protein 3	859					activation of JUN kinase activity (GO:0007257)|axon guidance (GO:0007411)|forebrain development (GO:0030900)|in utero embryonic development (GO:0001701)|lung alveolus development (GO:0048286)|lung morphogenesis (GO:0060425)|positive regulation of neuron differentiation (GO:0045666)|post-embryonic development (GO:0009791)|protein localization (GO:0008104)|regulation of gene expression (GO:0010468)|regulation of JNK cascade (GO:0046328)|respiratory gaseous exchange (GO:0007585)|vesicle-mediated transport (GO:0016192)	axolemma (GO:0030673)|dendrite (GO:0030425)|Golgi membrane (GO:0000139)|smooth endoplasmic reticulum (GO:0005790)	kinesin binding (GO:0019894)|MAP-kinase scaffold activity (GO:0005078)	p.R859Q(1)		NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3)	42						AACGTGCCGCGGAGCAACTGC	0.662																																						ENST00000250894.4																			1	Substitution - Missense(1)	p.R859Q(1)	prostate(1)	NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3)	42						c.(2575-2577)cGg>cAg		mitogen-activated protein kinase 8 interacting protein 3							33	44	40					16																	1816093		2114	4226	6340	SO:0001583	missense	23162				vesicle-mediated transport	Golgi membrane	kinesin binding|MAP-kinase scaffold activity|protein kinase binding	g.chr16:1816093G>A	AB028989	CCDS10442.2, CCDS45379.1	16p13.3	2009-11-23			ENSG00000138834	ENSG00000138834			6884	protein-coding gene	gene with protein product	"homolog of Drosophila Sunday driver 2"	605431				10523642, 10629060	Standard	XM_005255187		Approved	KIAA1066, JSAP1, JIP3, syd	uc002cmk.3	Q9UPT6	OTTHUMG00000128637	ENST00000250894.4:c.2576G>A	16.37:g.1816093G>A	ENSP00000250894:p.Arg859Gln					MAPK8IP3_ENST00000356010.5_Missense_Mutation_p.R853Q	p.R859Q	NM_015133.3	NP_055948.2	Q9UPT6	JIP3_HUMAN			21	2733	+			859					A2A2B3|A7E2B3|Q96RY4|Q9H4I4|Q9H7P1|Q9NUG0	Missense_Mutation	SNP	ENST00000250894.4	37	c.2576G>A	CCDS10442.2	.	.	.	.	.	.	.	.	.	.	G	10.06	1.246218	0.22796	.	.	ENSG00000138834	ENST00000250894;ENST00000356010	T;T	0.29917	1.55;1.55	4.99	3.04	0.35103	.	0.114453	0.64402	D	0.000009	T	0.35595	0.0937	L	0.60455	1.87	0.58432	D	0.999993	P;P;P	0.52463	0.569;0.953;0.853	B;P;P	0.50352	0.129;0.638;0.447	T	0.05818	-1.0862	10	0.23302	T	0.38	-14.7528	10.4188	0.44338	0.1604:0.0:0.8396:0.0	.	860;853;859	B7ZMF3;E9PFH7;Q9UPT6	.;.;JIP3_HUMAN	Q	859;853	ENSP00000250894:R859Q;ENSP00000348290:R853Q	ENSP00000250894:R859Q	R	+	2	0	MAPK8IP3	1756094	1.000000	0.71417	0.113000	0.21522	0.079000	0.17450	5.146000	0.64845	0.528000	0.28580	0.561000	0.74099	CGG		0.662	MAPK8IP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250508.2	NM_001040439		6	55	0	0	0	1	0	6	55					A	1816093	G	A	1816093	3	1	26	1	0	0	0	0	1	0	0	0	9286	1116	39	2	2674	2	MAPK8IP3	16	1816093	Missense_Mutation	SNP	G	TCGA-CH-5754-01A-11D-1576-08		1816093	88538660	90	1222											
SLC5A2	6524	broad.mit.edu	37	chr16	31498984	31498984	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cgaccccggcccgactcctaCcacctgctccggcaccccgt	5	5	8	23	5	0	0	0	0	0	0	2	2	2	0	9	2	2	2	9	2	1	1	rs188105101	byFrequency	TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr16:31498984C>G	ENST00000330498.3	+	7	808	c.789C>G	c.(787-789)taC>taG	p.Y263*	AC026471.6_ENST00000565137.1_RNA	NM_003041.3	NP_003032.1	P31639	SC5A2_HUMAN	solute carrier family 5 (sodium/glucose cotransporter), member 2	263					carbohydrate metabolic process (GO:0005975)|glucose transport (GO:0015758)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	low-affinity glucose:sodium symporter activity (GO:0005362)	p.Y263*(1)		endometrium(2)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	25					Canagliflozin(DB08907)|Dapagliflozin(DB06292)	CCGACTCCTACCACCTGCTCC	0.652																																						ENST00000330498.3																			1	Substitution - Nonsense(1)	p.Y263*(1)	prostate(1)	endometrium(2)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	25						c.(787-789)taC>taG		solute carrier family 5 (sodium/glucose cotransporter), member 2							38	38	38					16																	31498984		2197	4300	6497	SO:0001587	stop_gained	6524				carbohydrate metabolic process	integral to membrane	low-affinity glucose:sodium symporter activity	g.chr16:31498984C>G		CCDS10714.1	16p11.2	2013-05-22			ENSG00000140675	ENSG00000140675		"Solute carriers"	11037	protein-coding gene	gene with protein product		182381		SGLT2		8244402	Standard	NM_003041		Approved		uc002ecf.4	P31639	OTTHUMG00000176620	ENST00000330498.3:c.789C>G	16.37:g.31498984C>G	ENSP00000327943:p.Tyr263*					AC026471.6_ENST00000565137.1_RNA	p.Y263*	NM_003041.3	NP_003032.1	P31639	SC5A2_HUMAN			7	808	+			263					A2RRD2	Nonsense_Mutation	SNP	ENST00000330498.3	37	c.789C>G	CCDS10714.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.249819	0.80024	.	.	ENSG00000140675	ENST00000330498;ENST00000419665	.	.	.	4.14	-1.8	0.07907	.	0.073772	0.56097	D	0.000031	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.51188	T	0.08	.	8.3884	0.32514	0.0:0.3291:0.0:0.6709	.	.	.	.	X	263	.	ENSP00000327943:Y263X	Y	+	3	2	SLC5A2	31406485	0.020000	0.18652	0.996000	0.52242	0.934000	0.57294	-0.704000	0.05058	-0.177000	0.10690	-0.379000	0.06801	TAC		0.652	SLC5A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255627.2			10	89	0	0	0	1	0	10	89					G	31498984	C	G	31498984	4	3	26	1	0	0	0	0	0	1	0	0	14665	518	18	5	815	5	SLC5A2	16	31498984	Nonsense_Mutation	SNP	C	TCGA-CH-5754-01A-11D-1576-08	29682891	31498984	58855769	91	1223											
LRRC36	55282	broad.mit.edu	37	chr16	67405081	67405081	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atcgaagagaggattcaaatGgaaggacaatatccttgcca	16	8	10	7	1	1	1	1	0	0	1	3	6	2	4	2	3	1	0	2	3	5	3			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr16:67405081G>C	ENST00000329956.6	+	9	1449	c.1430G>C	c.(1429-1431)tGg>tCg	p.W477S	LRRC36_ENST00000290940.7_Missense_Mutation_p.W209S|LRRC36_ENST00000435835.3_Missense_Mutation_p.W356S|LRRC36_ENST00000541146.1_Start_Codon_SNP_p.M1I|LRRC36_ENST00000563189.1_Missense_Mutation_p.W356S	NM_018296.5	NP_060766.5	Q1X8D7	LRC36_HUMAN	leucine rich repeat containing 36	477								p.W477S(1)		endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	24		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0669)|Epithelial(162;0.161)		GGATTCAAATGGAAGGACAAT	0.463																																						ENST00000329956.6																			1	Substitution - Missense(1)	p.W477S(1)	prostate(1)	endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	24						c.(1429-1431)tGg>tCg		leucine rich repeat containing 36							149	135	140					16																	67405081		2198	4300	6498	SO:0001583	missense	55282							g.chr16:67405081G>C	BC026156	CCDS32467.1, CCDS58474.1	16q22.1	2008-02-05				ENSG00000159708			25615	protein-coding gene	gene with protein product						12477932	Standard	NM_001161575		Approved	FLJ11004	uc002esv.3	Q1X8D7		ENST00000329956.6:c.1430G>C	16.37:g.67405081G>C	ENSP00000329943:p.Trp477Ser					LRRC36_ENST00000563189.1_Missense_Mutation_p.W356S|LRRC36_ENST00000435835.3_Missense_Mutation_p.W356S|LRRC36_ENST00000290940.7_Missense_Mutation_p.W209S|LRRC36_ENST00000541146.1_Start_Codon_SNP_p.M1I	p.W477S	NM_018296.5	NP_060766.5	Q1X8D7	LRC36_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0669)|Epithelial(162;0.161)	9	1449	+		Ovarian(137;0.192)	477					A4FTV6|A6NDE9|A8K8E6|Q7Z5K5	Missense_Mutation	SNP	ENST00000329956.6	37	c.1430G>C	CCDS32467.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.45|12.45	1.941012|1.941012	0.34283|0.34283	.|.	.|.	ENSG00000159708|ENSG00000159708	ENST00000541146|ENST00000329956;ENST00000290940;ENST00000435835	T|T;T;T	0.44482|0.40756	0.92|3.36;1.02;1.6	5.84|5.84	3.88|3.88	0.44766|0.44766	.|.	.|0.224065	.|0.31010	.|N	.|0.008435	T|T	0.24198|0.24198	0.0586|0.0586	N|N	0.14661|0.14661	0.345|0.345	0.41384|0.41384	D|D	0.987579|0.987579	B|B;B;B;B	0.09022|0.16396	0.002|0.017;0.008;0.005;0.017	B|B;B;B;B	0.09377|0.14023	0.004|0.006;0.01;0.009;0.006	T|T	0.06588|0.06588	-1.0818|-1.0818	9|10	0.87932|0.44086	D|T	0|0.13	-3.5718|-3.5718	8.2478|8.2478	0.31700|0.31700	0.1749:0.0:0.8251:0.0|0.1749:0.0:0.8251:0.0	.|.	1|356;209;356;477	B7Z4G3|B7Z7B3;Q9NV11;Q1X8D7-2;Q1X8D7	.|.;.;.;LRC36_HUMAN	I|S	1|477;209;356	ENSP00000445861:M1I|ENSP00000329943:W477S;ENSP00000290940:W209S;ENSP00000411122:W356S	ENSP00000445861:M1I|ENSP00000290940:W209S	M|W	+|+	3|2	0|0	LRRC36|LRRC36	65962582|65962582	0.997000|0.997000	0.39634|0.39634	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	0.937000|0.937000	0.28951|0.28951	1.492000|1.492000	0.48499|0.48499	0.655000|0.655000	0.94253|0.94253	ATG|TGG		0.463	LRRC36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421770.1	NM_018296		25	238	0	0	0	1	0	25	238					C	67405081	G	C	67405081	3	2	26	1	0	0	0	0	1	0	0	0	8990	1357	47	5	1492	5	LRRC36	16	67405081	Missense_Mutation	SNP	G	TCGA-CH-5754-01A-11D-1576-08	35906097	67405081	22949672	92	1224											
HYDIN	54768	broad.mit.edu	37	chr16	70867982	70867982	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcagagaagggagggacaCgcttcttcggggcaaagatg	11	6	15	9	2	2	2	1	0	1	2	3	5	2	4	1	4	0	2	1	4	2	2	rs200741838		TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr16:70867982C>G	ENST00000393567.2	-	79	13637	c.13487G>C	c.(13486-13488)cGt>cCt	p.R4496P		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	4496					cilium assembly (GO:0042384)|cilium movement (GO:0003341)|epithelial cell development (GO:0002064)|trachea development (GO:0060438)|ventricular system development (GO:0021591)	cell projection (GO:0042995)		p.R4447P(1)|p.R4495P(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				GGGAGGGACACGCTTCTTCGG	0.552																																						ENST00000393567.2																			2	Substitution - Missense(2)	p.R4447P(1)|p.R4495P(1)	prostate(2)	breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43						c.(13486-13488)cGt>cCt		HYDIN, axonemal central pair apparatus protein							4	4	4					16																	70867982		1599	3662	5261	SO:0001583	missense	54768							g.chr16:70867982C>G	AK074472	CCDS10897.1, CCDS56004.1, CCDS56005.1, CCDS59269.1	16q22.2	2014-02-05	2012-01-06		ENSG00000157423	ENSG00000157423		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	19368	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 31"	610812	"hydrocephalus inducing", "hydrocephalus inducing homolog (mouse)"			12719380, 23022101	Standard	NM_001198542		Approved	DKFZp434D0513, KIAA1864, PPP1R31, CILD5	uc031qwy.1	Q4G0P3	OTTHUMG00000137584	ENST00000393567.2:c.13487G>C	16.37:g.70867982C>G	ENSP00000377197:p.Arg4496Pro						p.R4496P	NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN			79	13637	-		Ovarian(137;0.0654)	4496					A6NC70|A6NLZ0|B4DQY4|B4DRN4|F5H6V3|Q8N3H8|Q8N3P6|Q8TC08|Q96JG3|Q96SS4|Q9H5U3|Q9H9B8|Q9NTI0|Q9UBE5	Missense_Mutation	SNP	ENST00000393567.2	37	c.13487G>C	CCDS59269.1	.	.	.	.	.	.	.	.	.	.	C	15.57	2.871255	0.51695	.	.	ENSG00000157423	ENST00000393567;ENST00000316490	T	0.01414	4.92	4.87	4.87	0.63330	.	0.000000	0.33235	U	0.005128	T	0.09862	0.0242	M	0.84326	2.69	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.03249	-1.1056	10	0.45353	T	0.12	.	17.6354	0.88120	0.0:1.0:0.0:0.0	.	4495	F8WD23	.	P	4496;4495	ENSP00000377197:R4496P	ENSP00000313052:R4495P	R	-	2	0	HYDIN	69425483	1.000000	0.71417	0.926000	0.36857	0.177000	0.22998	5.233000	0.65337	2.257000	0.74773	0.511000	0.50034	CGT		0.552	HYDIN-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000398624.3			32	35	0	0	0	1	0	32	35					G	70867982	C	G	70867982	3	3	26	1	0	0	0	0	1	0	0	0	7467	536	19	5	1910	5	HYDIN	16	70867982	Missense_Mutation	SNP	C	TCGA-CH-5754-01A-11D-1576-08	3462901	70867982	19486771	93	1225											
ADAD2	161931	broad.mit.edu	37	chr16	84229837	84229837	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacctccctacgtccggaccGccctgcacctgtttgcaggg	5	8	10	18	3	0	0	0	0	0	0	2	1	2	1	6	2	3	3	6	2	1	2			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr16:84229837G>A	ENST00000315906.5	+	8	1439	c.1387G>A	c.(1387-1389)Gcc>Acc	p.A463T	RP11-486L19.2_ENST00000569834.1_RNA|RP11-486L19.2_ENST00000565643.1_RNA|ADAD2_ENST00000268624.3_Missense_Mutation_p.A545T|RP11-486L19.2_ENST00000561900.1_RNA|RP11-486L19.2_ENST00000536986.1_RNA	NM_001145400.1	NP_001138872.1	Q8NCV1	ADAD2_HUMAN	adenosine deaminase domain containing 2	463	A to I editase. {ECO:0000255|PROSITE- ProRule:PRU00240}.				RNA processing (GO:0006396)		adenosine deaminase activity (GO:0004000)|RNA binding (GO:0003723)	p.A545T(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)|skin(1)	13						CGTCCGGACCGCCCTGCACCT	0.697																																						ENST00000268624.3																			1	Substitution - Missense(1)	p.A545T(1)	prostate(1)	NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)|skin(1)	13						c.(1633-1635)Gcc>Acc		adenosine deaminase domain containing 2							52	59	57					16																	84229837		2200	4299	6499	SO:0001583	missense	161931				RNA processing	intracellular	adenosine deaminase activity|double-stranded RNA binding	g.chr16:84229837G>A	AF447586	CCDS10944.1, CCDS45536.1	16q24.1	2007-05-31			ENSG00000140955	ENSG00000140955			30714	protein-coding gene	gene with protein product							Standard	NM_139174		Approved	TENRL, FLJ00337	uc002fhr.2	Q8NCV1	OTTHUMG00000137637	ENST00000315906.5:c.1387G>A	16.37:g.84229837G>A	ENSP00000325153:p.Ala463Thr					RP11-486L19.2_ENST00000565643.1_RNA|RP11-486L19.2_ENST00000569834.1_RNA|ADAD2_ENST00000315906.5_Missense_Mutation_p.A463T|RP11-486L19.2_ENST00000536986.1_RNA	p.A545T	NM_139174.3	NP_631913.3	Q8NCV1	ADAD2_HUMAN			9	1726	+			463			A to I editase.		B2RCL6|Q8NA94	Missense_Mutation	SNP	ENST00000315906.5	37	c.1633G>A	CCDS45536.1	.	.	.	.	.	.	.	.	.	.	G	0.007	-1.995702	0.00435	.	.	ENSG00000140955	ENST00000315906;ENST00000268624	D;D	0.93189	-3.18;-3.18	5.02	2.35	0.29111	Adenosine deaminase/editase (2);	0.705056	0.14154	N	0.337807	T	0.74786	0.3762	N	0.00885	-1.115	0.09310	N	1	B;B	0.14805	0.001;0.011	B;B	0.04013	0.001;0.001	T	0.66567	-0.5891	10	0.15499	T	0.54	-12.9939	4.6917	0.12785	0.6436:0.2496:0.1067:0.0	.	463;545	Q8NCV1;Q8NCV1-2	ADAD2_HUMAN;.	T	463;545	ENSP00000325153:A463T;ENSP00000268624:A545T	ENSP00000268624:A545T	A	+	1	0	ADAD2	82787338	0.001000	0.12720	0.009000	0.14445	0.072000	0.16883	1.099000	0.31013	0.854000	0.35336	-0.459000	0.05422	GCC		0.697	ADAD2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433385.1	NM_139174		71	94	0	0	0	1	0	71	94					A	84229837	G	A	84229837	3	1	26	1	0	0	0	0	1	0	0	0	232	1087	38	1	1667	1	ADAD2	16	84229837	Missense_Mutation	SNP	G	TCGA-CH-5754-01A-11D-1576-08	13361855	84229837	6124916	94	1226											
BCL6B	255877	broad.mit.edu	37	chr17	6930071	6930071	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gcggagcccgttttaaccggCcagcaaacctgaaaacgcac	12	5	10	14	4	0	1	0	1	0	0	0	2	0	2	4	2	5	3	4	2	4	2			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr17:6930071C>G	ENST00000293805.5	+	7	1194	c.1102C>G	c.(1102-1104)Cca>Gca	p.P368A		NM_181844.3	NP_862827	Q8N143	BCL6B_HUMAN	B-cell CLL/lymphoma 6, member B	368					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.P368A(2)		skin(1)	1						TTTTAACCGGCCAGCAAACCT	0.577																																						ENST00000293805.5																			2	Substitution - Missense(2)	p.P368A(2)	prostate(2)	skin(1)	1						c.(1102-1104)Cca>Gca		B-cell CLL/lymphoma 6, member B							61	69	66					17																	6930071		1979	4160	6139	SO:0001583	missense	255877					nucleus	zinc ion binding	g.chr17:6930071C>G	AI672318	CCDS42248.1	17p13.1	2014-06-10	2010-04-14		ENSG00000161940	ENSG00000161940		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	1002	protein-coding gene	gene with protein product		608992	"zinc finger protein 62", "B-cell CLL/lymphoma 6, member B (zinc finger protein)"	ZNF62		9632807	Standard	NM_181844		Approved	ZBTB28, BAZF	uc010clt.1	Q8N143	OTTHUMG00000177882	ENST00000293805.5:c.1102C>G	17.37:g.6930071C>G	ENSP00000293805:p.Pro368Ala						p.P368A	NM_181844.3	NP_862827.1	Q8N143	BCL6B_HUMAN			7	1194	+			368					Q6PCB4	Missense_Mutation	SNP	ENST00000293805.5	37	c.1102C>G	CCDS42248.1	.	.	.	.	.	.	.	.	.	.	C	18.70	3.681023	0.68042	.	.	ENSG00000161940	ENST00000293805	T	0.34275	1.37	5.95	5.95	0.96441	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.055008	0.64402	D	0.000001	T	0.29061	0.0722	N	0.17764	0.52	0.45108	D	0.998124	P	0.37824	0.609	B	0.40825	0.341	T	0.03202	-1.1061	10	0.15066	T	0.55	.	17.8727	0.88815	0.0:1.0:0.0:0.0	.	368	Q8N143	BCL6B_HUMAN	A	368	ENSP00000293805:P368A	ENSP00000293805:P368A	P	+	1	0	BCL6B	6870795	1.000000	0.71417	0.970000	0.41538	0.979000	0.70002	3.974000	0.56852	2.826000	0.97356	0.563000	0.77884	CCA		0.577	BCL6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439455.2	NM_181844		8	103	0	0	0	1	0	8	103					G	6930071	C	G	6930071	3	3	26	1	0	0	0	0	1	0	0	0	1377	739	26	5	1124	5	BCL6B	17	6930071	Missense_Mutation	SNP	C	TCGA-CH-5754-01A-11D-1576-08		6930071	74265139	95	1227											
FOXN1	8456	broad.mit.edu	37	chr17	26851603	26851603	+	Missense_Mutation	SNP	G	G	A																															actgcccccacacagcccccGcattgcgtcaccagggcccg																										TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr17:26851603G>A	ENST00000226247.2	+	2	235	c.206G>A	c.(205-207)cGc>cAc	p.R69H	FOXN1_ENST00000579795.1_Missense_Mutation_p.R69H	NM_003593.2	NP_003584.2	O15353	FOXN1_HUMAN	forkhead box N1	69			R -> C (in dbSNP:rs2071587).		defense response (GO:0006952)|epidermis development (GO:0008544)|epithelial cell proliferation (GO:0050673)|hair follicle development (GO:0001942)|keratinocyte differentiation (GO:0030216)|lymphocyte homeostasis (GO:0002260)|nail development (GO:0035878)|organ morphogenesis (GO:0009887)|regulation of T cell differentiation in thymus (GO:0033081)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|thymus development (GO:0048538)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R69H(2)		endometrium(1)|large_intestine(3)|lung(8)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Lung NSC(42;0.00431)					CACAGCCCCCGCATTGCGTCA	0.647																																						ENST00000226247.2																			2	Substitution - Missense(2)	p.R69H(2)	large_intestine(1)|prostate(1)	endometrium(1)|large_intestine(3)|lung(8)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(205-207)cGc>cAc		forkhead box N1							44	48	47					17																	26851603		2203	4300	6503	SO:0001583	missense	8456				defense response|embryo development|epithelial cell proliferation|keratinocyte differentiation|organ morphogenesis|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter|thymus development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chr17:26851603G>A	Y11739	CCDS11232.1	17q11-q12	2014-09-17	2003-06-12	2003-06-13	ENSG00000109101	ENSG00000109101		"Forkhead boxes"	12765	protein-coding gene	gene with protein product		600838	"winged-helix nude", "Rowett nude"	WHN, RONU		9321431	Standard	NM_003593		Approved	FKHL20	uc002hbj.3	O15353	OTTHUMG00000132603	ENST00000226247.2:c.206G>A	17.37:g.26851603G>A	ENSP00000226247:p.Arg69His					FOXN1_ENST00000579795.1_Missense_Mutation_p.R69H	p.R69H	NM_003593.2	NP_003584.2	O15353	FOXN1_HUMAN			2	235	+	Lung NSC(42;0.00431)		69		R -> C (in dbSNP:rs2071587).			B2R9Q7|O15352	Missense_Mutation	SNP	ENST00000226247.2	37	c.206G>A	CCDS11232.1	.	.	.	.	.	.	.	.	.	.	G	15.55	2.866705	0.51588	.	.	ENSG00000109101	ENST00000226247	D	0.92397	-3.03	5.54	5.54	0.83059	.	0.063200	0.64402	D	0.000002	D	0.84401	0.5464	N	0.08118	0	0.27921	N	0.93824	B	0.17268	0.021	B	0.04013	0.001	T	0.77400	-0.2602	10	0.72032	D	0.01	.	16.5484	0.84457	0.0:0.0:1.0:0.0	.	69	O15353	FOXN1_HUMAN	H	69	ENSP00000226247:R69H	ENSP00000226247:R69H	R	+	2	0	FOXN1	23875730	0.965000	0.33210	0.972000	0.41901	0.368000	0.29767	1.535000	0.36061	2.768000	0.95171	0.561000	0.74099	CGC		0.647	FOXN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255832.1			51	111	0	0	0	1	0	51	111					A	26851603	G	A	26851603	3	1	26	1	0	0	0	0	1	0	0	0	6019	1087	38	1	212	1	FOXN1	17	26851603	Missense_Mutation	SNP	G	TCGA-CH-5754-01A-11D-1576-08	19921532	26851603	54343607	96	1228	7	2									
FOXN1	8456	broad.mit.edu	37	chr17	26851604	26851604	+	Silent	SNP	C	C	T																															ctgcccccacacagcccccgCattgcgtcaccagggcccga																										TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr17:26851604C>T	ENST00000226247.2	+	2	236	c.207C>T	c.(205-207)cgC>cgT	p.R69R	FOXN1_ENST00000579795.1_Silent_p.R69R	NM_003593.2	NP_003584.2	O15353	FOXN1_HUMAN	forkhead box N1	69			R -> C (in dbSNP:rs2071587).		defense response (GO:0006952)|epidermis development (GO:0008544)|epithelial cell proliferation (GO:0050673)|hair follicle development (GO:0001942)|keratinocyte differentiation (GO:0030216)|lymphocyte homeostasis (GO:0002260)|nail development (GO:0035878)|organ morphogenesis (GO:0009887)|regulation of T cell differentiation in thymus (GO:0033081)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|thymus development (GO:0048538)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R69R(1)		endometrium(1)|large_intestine(3)|lung(8)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Lung NSC(42;0.00431)					ACAGCCCCCGCATTGCGTCAC	0.652																																						ENST00000226247.2																			1	Substitution - coding silent(1)	p.R69R(1)	prostate(1)	endometrium(1)|large_intestine(3)|lung(8)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(205-207)cgC>cgT		forkhead box N1							43	48	46					17																	26851604		2203	4300	6503	SO:0001819	synonymous_variant	8456				defense response|embryo development|epithelial cell proliferation|keratinocyte differentiation|organ morphogenesis|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter|thymus development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chr17:26851604C>T	Y11739	CCDS11232.1	17q11-q12	2014-09-17	2003-06-12	2003-06-13	ENSG00000109101	ENSG00000109101		"Forkhead boxes"	12765	protein-coding gene	gene with protein product		600838	"winged-helix nude", "Rowett nude"	WHN, RONU		9321431	Standard	NM_003593		Approved	FKHL20	uc002hbj.3	O15353	OTTHUMG00000132603	ENST00000226247.2:c.207C>T	17.37:g.26851604C>T						FOXN1_ENST00000579795.1_Silent_p.R69R	p.R69R	NM_003593.2	NP_003584.2	O15353	FOXN1_HUMAN			2	236	+	Lung NSC(42;0.00431)		69		R -> C (in dbSNP:rs2071587).			B2R9Q7|O15352	Silent	SNP	ENST00000226247.2	37	c.207C>T	CCDS11232.1																																																																																				0.652	FOXN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255832.1			51	107	0	0	0	1	0	51	107					T	26851604	C	T	26851604	2	4	26	1	0	0	0	0	0	0	0	1	6019	697	25	3		3	FOXN1	17	26851604	Silent	SNP	C	TCGA-CH-5754-01A-11D-1576-08	1	26851604	54343606	97	1229	7	2									
GAS2L2	246176	broad.mit.edu	37	chr17	34072056	34072056	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctcccctcccttgctgccCagcacagctctcaacagcct	6	8	6	21	0	1	0	1	0	1	0	4	0	3	0	6	0	6	3	6	0	1	1			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr17:34072056C>A	ENST00000254466.6	-	6	2487	c.2460G>T	c.(2458-2460)ctG>ctT	p.L820L	GAS2L2_ENST00000587565.1_Silent_p.L804L	NM_139285.3	NP_644814.1	Q8NHY3	GA2L2_HUMAN	growth arrest-specific 2 like 2	820					cell cycle arrest (GO:0007050)|microtubule bundle formation (GO:0001578)|negative regulation of microtubule depolymerization (GO:0007026)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	actin filament binding (GO:0051015)|cytoskeletal adaptor activity (GO:0008093)|microtubule binding (GO:0008017)			central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		CCTTGCTGCCCAGCACAGCTC	0.622																																						ENST00000254466.6																			0				central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						c.(2458-2460)ctG>ctT		growth arrest-specific 2 like 2							56	62	60					17																	34072056		2203	4300	6503	SO:0001819	synonymous_variant	246176				cell cycle arrest	cytoplasm|cytoskeleton		g.chr17:34072056C>A	AF508784	CCDS11298.1	17q21	2014-05-06			ENSG00000132139	ENSG00000270765			24846	protein-coding gene	gene with protein product		611398				12584248	Standard	NM_139285		Approved	GAR17	uc002hjv.2	Q8NHY3	OTTHUMG00000188386	ENST00000254466.6:c.2460G>T	17.37:g.34072056C>A						GAS2L2_ENST00000587565.1_Silent_p.L804L	p.L820L	NM_139285.3	NP_644814.1	Q8NHY3	GA2L2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)	6	2487	-		Ovarian(249;0.17)	820					Q8NHY4	Silent	SNP	ENST00000254466.6	37	c.2460G>T	CCDS11298.1																																																																																				0.622	GAS2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256497.1	NM_139285		5	232	1	0	1.23904e-05	1	1.27716e-05	5	232					A	34072056	C	A	34072056	2	1	26	1	0	0	0	0	0	0	0	1	6247	581	21	5		5	GAS2L2	17	34072056	Silent	SNP	C	TCGA-CH-5754-01A-11D-1576-08	7220452	34072056	47123154	98	1230											
CSF3	1440	broad.mit.edu	37	chr17	38172080	38172080	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagatccagggcgatggcgcAgcgctccaggagaagctggt	10	5	16	10	3	0	2	0	0	0	2	2	4	2	2	2	4	2	3	2	4	2	0			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr17:38172080A>G	ENST00000225474.2	+	2	208	c.177A>G	c.(175-177)gcA>gcG	p.A59A	CSF3_ENST00000577675.1_Silent_p.A55A|CSF3_ENST00000331769.2_Silent_p.A55A|CSF3_ENST00000394148.3_Silent_p.A59A|RP11-387H17.6_ENST00000583462.1_lincRNA|CSF3_ENST00000394149.3_Silent_p.A59A			P09919	CSF3_HUMAN	colony stimulating factor 3 (granulocyte)	59					cellular response to cytokine stimulus (GO:0071345)|cellular response to lipopolysaccharide (GO:0071222)|cytokine-mediated signaling pathway (GO:0019221)|granulocyte differentiation (GO:0030851)|immune response (GO:0006955)|multicellular organismal development (GO:0007275)|negative regulation of neuron death (GO:1901215)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell proliferation (GO:0008284)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein binding (GO:0032092)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of transcription factor import into nucleus (GO:0042993)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	extracellular space (GO:0005615)	cytokine activity (GO:0005125)|enzyme binding (GO:0019899)|granulocyte colony-stimulating factor receptor binding (GO:0005130)	p.A55A(1)		endometrium(1)|ovary(1)|prostate(1)	3	Colorectal(19;0.000442)	Myeloproliferative disorder(1115;0.0255)				GCGATGGCGCAGCGCTCCAGG	0.642																																						ENST00000331769.2																			1	Substitution - coding silent(1)	p.A55A(1)	prostate(1)	endometrium(1)|ovary(1)|prostate(1)	3						c.(163-165)gcA>gcG		colony stimulating factor 3 (granulocyte)	Filgrastim(DB00099)|Pegfilgrastim(DB00019)						35	35	35					17																	38172080		2202	4299	6501	SO:0001819	synonymous_variant	1440				cytokine-mediated signaling pathway|granulocyte differentiation|immune response|positive regulation of cell proliferation	extracellular space	cytokine activity|enzyme binding|granulocyte colony-stimulating factor receptor binding|growth factor activity	g.chr17:38172080A>G		CCDS11357.1, CCDS11358.1, CCDS42314.1, CCDS11358.2	17q11.2-q12	2014-01-30			ENSG00000108342	ENSG00000108342		"Endogenous ligands"	2438	protein-coding gene	gene with protein product	"granulocyte colony stimulating factor", "pluripoietin", "filgrastim", "lenograstim"	138970	"chromosome 17 open reading frame 33"	GCSF, G-CSF, C17orf33		3499671, 3501046	Standard	NM_000759		Approved	MGC45931	uc002htp.3	P09919	OTTHUMG00000133247	ENST00000225474.2:c.177A>G	17.37:g.38172080A>G						CSF3_ENST00000225474.2_Silent_p.A59A|CSF3_ENST00000577675.1_Silent_p.A55A|CSF3_ENST00000394149.3_Silent_p.A59A|CSF3_ENST00000394148.3_Silent_p.A59A	p.A55A			P09919	CSF3_HUMAN			1	381	+	Colorectal(19;0.000442)	Myeloproliferative disorder(1115;0.0255)	59					A8MXR7	Silent	SNP	ENST00000225474.2	37	c.165A>G	CCDS11357.1																																																																																				0.642	CSF3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256988.2	NM_172220		5	42	0	0	0	1	0	5	42					G	38172080	A	G	38172080	2	3	26	1	0	0	0	0	0	0	0	1	3936	175	7	4		4	CSF3	17	38172080	Silent	SNP	A	TCGA-CH-5754-01A-11D-1576-08	4100024	38172080	43023130	99	1231											
ACTG1	71	broad.mit.edu	37	chr17	79478427	79478427	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtggtggtgaagctgtagcCtcgctcagtgaggatcttca	7	11	14	9	2	3	2	2	2	1	0	4	3	3	3	1	3	2	3	1	3	2	2			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr17:79478427C>T	ENST00000575842.1	-	3	1015	c.589G>A	c.(589-591)Ggc>Agc	p.G197S	ACTG1_ENST00000573283.1_Missense_Mutation_p.G197S|RP13-766D20.2_ENST00000430912.1_RNA|ACTG1_ENST00000575087.1_Missense_Mutation_p.G197S|ACTG1_ENST00000331925.2_Missense_Mutation_p.G197S|AC139149.1_ENST00000584254.1_RNA			P63261	ACTG_HUMAN	actin, gamma 1	197					adherens junction organization (GO:0034332)|axon guidance (GO:0007411)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cellular component movement (GO:0006928)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane organization (GO:0061024)|platelet aggregation (GO:0070527)|retina homeostasis (GO:0001895)|sarcomere organization (GO:0045214)	blood microparticle (GO:0072562)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|membrane (GO:0016020)|myofibril (GO:0030016)|nucleus (GO:0005634)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|structural constituent of cytoskeleton (GO:0005200)	p.G197S(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|lung(8)|ovary(2)|prostate(5)|urinary_tract(1)	29	all_neural(118;0.0878)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0547)			AAGCTGTAGCCTCGCTCAGTG	0.642																																						ENST00000575842.1																			1	Substitution - Missense(1)	p.G197S(1)	prostate(1)	breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|lung(8)|ovary(2)|prostate(5)|urinary_tract(1)	29						c.(589-591)Ggc>Agc		actin, gamma 1							55	57	56					17																	79478427		2203	4300	6503	SO:0001583	missense	71				adherens junction organization|axon guidance|blood coagulation|cell junction assembly|cellular component movement	cytoskeleton|cytosol	ATP binding|identical protein binding	g.chr17:79478427C>T		CCDS11782.1	17q25	2010-04-23	2004-05-19		ENSG00000184009	ENSG00000184009			144	protein-coding gene	gene with protein product		102560	"deafness, autosomal dominant 20; deafness, autosomal dominant 26"	ACTG, DFNA20, DFNA26		14684684	Standard	NM_001614		Approved		uc002kal.2	P63261		ENST00000575842.1:c.589G>A	17.37:g.79478427C>T	ENSP00000458162:p.Gly197Ser					ACTG1_ENST00000573283.1_Missense_Mutation_p.G197S|ACTG1_ENST00000575087.1_Missense_Mutation_p.G197S|ACTG1_ENST00000331925.2_Missense_Mutation_p.G197S	p.G197S			P63261	ACTG_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0547)		3	1015	-	all_neural(118;0.0878)|Melanoma(429;0.242)		197					A8K7C2|P02571|P14104|P99022|Q5U032|Q96E67	Missense_Mutation	SNP	ENST00000575842.1	37	c.589G>A	CCDS11782.1	.	.	.	.	.	.	.	.	.	.	c	17.15	3.316457	0.60524	.	.	ENSG00000184009	ENST00000331925;ENST00000447294	D	0.94723	-3.5	4.56	3.59	0.41128	.	0.000000	0.64402	D	0.000001	D	0.98049	0.9357	H	0.97240	3.965	0.53688	D	0.999978	D	0.71674	0.998	D	0.85130	0.997	D	0.98054	1.0389	10	0.87932	D	0	.	11.4231	0.49993	0.0:0.91:0.0:0.0899	.	197	P63261	ACTG_HUMAN	S	197;155	ENSP00000331514:G197S	ENSP00000331514:G197S	G	-	1	0	ACTG1	77093022	1.000000	0.71417	0.550000	0.28217	0.817000	0.46193	7.396000	0.79891	0.941000	0.37499	0.553000	0.69018	GGC		0.642	ACTG1-012	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439935.2	NM_001614		39	86	0	0	0	1	0	39	86					T	79478427	C	T	79478427	3	4	26	1	0	0	0	0	1	0	0	0	196	681	24	3	550	3	ACTG1	17	79478427	Missense_Mutation	SNP	C	TCGA-CH-5754-01A-11D-1576-08	41306347	79478427	1716783	100	1232											
SALL3	27164	broad.mit.edu	37	chr18	76754200	76754200	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgcaaagccgcccctgcgcGtgcagcactcctgccccatc	6	6	10	19	3	0	0	0	0	0	0	2	0	1	0	6	0	6	3	6	0	1	0	rs147654064		TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr18:76754200G>A	ENST00000537592.2	+	2	2209	c.2209G>A	c.(2209-2211)Gtg>Atg	p.V737M	SALL3_ENST00000536229.3_Missense_Mutation_p.V604M|SALL3_ENST00000575389.2_Missense_Mutation_p.V737M	NM_171999.3	NP_741996.2	Q9BXA9	SALL3_HUMAN	spalt-like transcription factor 3	737					forelimb morphogenesis (GO:0035136)|hindlimb morphogenesis (GO:0035137)|negative regulation of smoothened signaling pathway (GO:0045879)|olfactory bulb interneuron development (GO:0021891)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.V737M(2)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)		GCCCCTGCGCGTGCAGCACTC	0.652																																						ENST00000536229.3																			2	Substitution - Missense(2)	p.V737M(2)	prostate(2)	NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	74						c.(1810-1812)Gtg>Atg		spalt-like transcription factor 3		G	MET/VAL	0,4406		0,0,2203	62	53	57		2209	5.3	0.9	18	dbSNP_134	57	2,8598	2.2+/-6.3	0,2,4298	yes	missense	SALL3	NM_171999.2	21	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	probably-damaging	737/1301	76754200	2,13004	2203	4300	6503	SO:0001583	missense	27164				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr18:76754200G>A	AJ007421	CCDS12013.1	18q23	2013-10-17	2013-10-17		ENSG00000256463	ENSG00000256463		"Zinc fingers, C2H2-type"	10527	protein-coding gene	gene with protein product		605079	"sal (Drosophila)-like 3", "sal-like 3 (Drosophila)"			10610715	Standard	NM_171999		Approved	ZNF796	uc002lmt.3	Q9BXA9	OTTHUMG00000132896	ENST00000537592.2:c.2209G>A	18.37:g.76754200G>A	ENSP00000441823:p.Val737Met					SALL3_ENST00000537592.2_Missense_Mutation_p.V737M|SALL3_ENST00000575389.2_Missense_Mutation_p.V737M	p.V604M			Q9BXA9	SALL3_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)	1	2519	+		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)	737					Q9UGH1	Missense_Mutation	SNP	ENST00000537592.2	37	c.1810G>A	CCDS12013.1	.	.	.	.	.	.	.	.	.	.	G	11.24	1.579367	0.28180	0.0	2.33E-4	ENSG00000256463	ENST00000537592;ENST00000536229;ENST00000543056	T	0.08807	3.05	5.33	5.33	0.75918	.	0.000000	0.50627	D	0.000101	T	0.18759	0.0450	N	0.26042	0.785	0.80722	D	1	P;D	0.89917	0.763;1.0	B;D	0.71184	0.269;0.972	T	0.02431	-1.1160	10	0.40728	T	0.16	-42.7284	19.053	0.93053	0.0:0.0:1.0:0.0	.	469;737	F5GXY4;Q9BXA9	.;SALL3_HUMAN	M	737;737;469	ENSP00000441823:V737M	ENSP00000299466:V737M	V	+	1	0	SALL3	74855188	1.000000	0.71417	0.914000	0.36105	0.690000	0.40134	7.905000	0.87416	2.499000	0.84300	0.655000	0.94253	GTG		0.652	SALL3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256397.1	NM_171999		28	21	0	0	0	1	0	28	21					A	76754200	G	A	76754200	3	1	26	1	0	0	0	0	1	0	0	0	13812	1145	40	1	2215	1	SALL3	18	76754200	Missense_Mutation	SNP	G	TCGA-CH-5754-01A-11D-1576-08		76754200	1323048	101	1233											
MUC16	94025	broad.mit.edu	37	chr19	9071591	9071591	+	Silent	SNP	G	G	T																															agtgtggttgatgtgtccaaGggaagggtactgtgcgatgc																										TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr19:9071591G>T	ENST00000397910.4	-	3	16058	c.15855C>A	c.(15853-15855)ccC>ccA	p.P5285P		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	5287	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)		p.P5285P(2)|p.P918P(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						ATGTGTCCAAGGGAAGGGTAC	0.522																																						ENST00000397910.4																			3	Substitution - coding silent(3)	p.P5285P(2)|p.P918P(1)	prostate(3)	NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(15853-15855)ccC>ccA		mucin 16, cell surface associated							163	158	159					19																	9071591		2051	4202	6253	SO:0001819	synonymous_variant	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9071591G>T	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.15855C>A	19.37:g.9071591G>T							p.P5285P	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			3	16058	-			5287			Thr-rich.		Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	c.15855C>A	CCDS54212.1																																																																																				0.522	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		43	118	1	0	2.58029e-29	1	3.00659e-29	43	118					T	9071591	G	T	9071591	2	4	26	1	0	0	0	0	0	0	0	1	9973	987	35	5		5	MUC16	19	9071591	Silent	SNP	G	TCGA-CH-5754-01A-11D-1576-08		9071591	50057392	102	1234	8	2									
MUC16	94025	broad.mit.edu	37	chr19	9071592	9071592	+	Missense_Mutation	SNP	G	G	T																															gtgtggttgatgtgtccaagGgaagggtactgtgcgatgca																										TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr19:9071592G>T	ENST00000397910.4	-	3	16057	c.15854C>A	c.(15853-15855)cCc>cAc	p.P5285H		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	5287	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)		p.P5285H(2)|p.P918H(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TGTGTCCAAGGGAAGGGTACT	0.517																																						ENST00000397910.4																			3	Substitution - Missense(3)	p.P5285H(2)|p.P918H(1)	prostate(3)	NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(15853-15855)cCc>cAc		mucin 16, cell surface associated							165	160	161					19																	9071592		2050	4203	6253	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9071592G>T	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.15854C>A	19.37:g.9071592G>T	ENSP00000381008:p.Pro5285His						p.P5285H	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			3	16057	-			5287			Thr-rich.		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.15854C>A	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	g	3.714	-0.059003	0.07317	.	.	ENSG00000181143	ENST00000397910	T	0.25250	1.81	1.83	1.83	0.25207	.	.	.	.	.	T	0.12305	0.0299	N	0.14661	0.345	.	.	.	D	0.53462	0.96	B	0.37550	0.253	T	0.12426	-1.0548	8	0.87932	D	0	.	7.1931	0.25837	0.0:0.0:1.0:0.0	.	5285	B5ME49	.	H	5285	ENSP00000381008:P5285H	ENSP00000381008:P5285H	P	-	2	0	MUC16	8932592	.	.	0.002000	0.10522	0.003000	0.03518	.	.	1.330000	0.45394	0.449000	0.29647	CCC		0.517	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		44	117	1	0	4.14194e-30	1	4.91168e-30	44	117					T	9071592	G	T	9071592	3	4	26	1	0	0	0	0	1	0	0	0	9973	1232	43	5	27997	5	MUC16	19	9071592	Missense_Mutation	SNP	G	TCGA-CH-5754-01A-11D-1576-08	1	9071592	50057391	103	1235	8	2									
ZNF536	9745	broad.mit.edu	37	chr19	30935327	30935327	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagggcaagttcaagaagcgCgaggagctggaccgccacat	13	4	14	10	3	1	1	1	0	0	1	1	4	1	3	2	3	2	3	2	3	4	1			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr19:30935327C>T	ENST00000355537.3	+	2	1005	c.858C>T	c.(856-858)cgC>cgT	p.R286R		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	286					negative regulation of neuron differentiation (GO:0045665)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|retinoic acid-responsive element binding (GO:0044323)	p.R286R(2)		NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					TCAAGAAGCGCGAGGAGCTGG	0.662																																						ENST00000355537.3																			2	Substitution - coding silent(2)	p.R286R(2)	prostate(1)|endometrium(1)	NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182						c.(856-858)cgC>cgT		zinc finger protein 536							32	37	35					19																	30935327		2202	4300	6502	SO:0001819	synonymous_variant	9745				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	g.chr19:30935327C>T		CCDS32984.1	19q13.11	2013-01-08				ENSG00000198597		"Zinc fingers, C2H2-type"	29025	protein-coding gene	gene with protein product						9205841	Standard	XM_005259445		Approved	KIAA0390	uc002nsu.1	O15090		ENST00000355537.3:c.858C>T	19.37:g.30935327C>T							p.R286R	NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN			2	1005	+	Esophageal squamous(110;0.0834)		286					A2RU18	Silent	SNP	ENST00000355537.3	37	c.858C>T	CCDS32984.1																																																																																				0.662	ZNF536-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459667.2	NM_014717		34	75	0	0	0	1	0	34	75					T	30935327	C	T	30935327	2	4	26	1	0	0	0	0	0	0	0	1	17971	755	27	1		1	ZNF536	19	30935327	Silent	SNP	C	TCGA-CH-5754-01A-11D-1576-08	21863735	30935327	28193656	104	1236											
ERCC2	2068	broad.mit.edu	37	chr19	45858935	45858935	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagcataccaatatcctcccGggtctcaaatttggagctga	11	10	8	12	1	1	1	1	1	1	0	4	2	3	2	3	2	3	2	3	2	4	3			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr19:45858935G>A	ENST00000391945.4	-	16	1608	c.1531C>T	c.(1531-1533)Cgg>Tgg	p.R511W	ERCC2_ENST00000391944.3_Missense_Mutation_p.R433W	NM_000400.3	NP_000391.1	P18074	ERCC2_HUMAN	excision repair cross-complementation group 2	511	Mediates interaction with MMS19.		R -> Q (in XP-D).		7-methylguanosine mRNA capping (GO:0006370)|aging (GO:0007568)|apoptotic process (GO:0006915)|ATP catabolic process (GO:0006200)|bone mineralization (GO:0030282)|cell proliferation (GO:0008283)|central nervous system myelin formation (GO:0032289)|chromosome segregation (GO:0007059)|DNA duplex unwinding (GO:0032508)|DNA repair (GO:0006281)|embryonic cleavage (GO:0040016)|erythrocyte maturation (GO:0043249)|extracellular matrix organization (GO:0030198)|gene expression (GO:0010467)|hair cell differentiation (GO:0035315)|hair follicle maturation (GO:0048820)|hematopoietic stem cell differentiation (GO:0060218)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|nucleotide-excision repair, DNA incision (GO:0033683)|positive regulation of DNA binding (GO:0043388)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of viral transcription (GO:0050434)|post-embryonic development (GO:0009791)|protein phosphorylation (GO:0006468)|regulation of mitotic cell cycle phase transition (GO:1901990)|response to hypoxia (GO:0001666)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)|spinal cord development (GO:0021510)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|UV protection (GO:0009650)|viral process (GO:0016032)	cytoplasm (GO:0005737)|holo TFIIH complex (GO:0005675)|MMXD complex (GO:0071817)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	4 iron, 4 sulfur cluster binding (GO:0051539)|5'-3' DNA helicase activity (GO:0043139)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)	p.R511W(1)		large_intestine(4)|lung(2)|ovary(1)|pancreas(1)|stomach(1)	9		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0226)		ATATCCTCCCGGGTCTCAAAT	0.547			"Mis, N, F, S"			"skin basal cell, skin squamous cell, melanoma"		Nucleotide excision repair (NER)	Xeroderma Pigmentosum																													ENST00000391945.4			yes	Rec		Xeroderma pigmentosum (D)	19	19q13.2-q13.3	2068	"Mis, N, F, S"	"excision repair cross-complementing rodent repair deficiency, complementation group 2 (xeroderma pigmentosum D)"			E		"skin basal cell, skin squamous cell, melanoma"			1	Substitution - Missense(1)	p.R511W(1)	prostate(1)	large_intestine(4)|lung(2)|ovary(1)|pancreas(1)|stomach(1)	9						c.(1531-1533)Cgg>Tgg	Nucleotide excision repair (NER)	excision repair cross-complementing rodent repair deficiency, complementation group 2							118	98	105					19																	45858935		2203	4300	6503	SO:0001583	missense	2068	Xeroderma Pigmentosum	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV	cell cycle checkpoint|chromosome segregation|hair cell differentiation|induction of apoptosis|interspecies interaction between organisms|mRNA capping|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein phosphorylation|response to oxidative stress|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|UV protection|viral reproduction	cytoplasm|holo TFIIH complex|MMXD complex	5'-3' DNA helicase activity|ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding|protein C-terminus binding|protein N-terminus binding	g.chr19:45858935G>A		CCDS33049.1, CCDS46112.1	19q13.3	2014-09-17	2014-03-07		ENSG00000104884	ENSG00000104884	3.6.4.12	"General transcription factor IIH complex subunits"	3434	protein-coding gene	gene with protein product	"excision repair cross-complementing rodent repair deficiency, complementation group 2 protein", "TFIIH basal transcription factor complex helicase XPB subunit"	126340	"xeroderma pigmentosum complementary group D", "excision repair cross-complementing rodent repair deficiency, complementation group 2"	XPD		8413672, 2184031	Standard	NM_000400		Approved	MAG, EM9, MGC102762, MGC126218, MGC126219, TFIIH	uc002pbj.2	P18074	OTTHUMG00000048190	ENST00000391945.4:c.1531C>T	19.37:g.45858935G>A	ENSP00000375809:p.Arg511Trp					ERCC2_ENST00000391944.3_Missense_Mutation_p.R433W	p.R511W	NM_000400.3	NP_000391.1	P18074	ERCC2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0226)	16	1608	-		Ovarian(192;0.0728)|all_neural(266;0.112)	511		R -> Q (in XP-D).	Mediates interaction with MMS19.		Q2TB78|Q2YDY2|Q7KZU6|Q8N721	Missense_Mutation	SNP	ENST00000391945.4	37	c.1531C>T	CCDS33049.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.202888	0.79127	.	.	ENSG00000104884	ENST00000391941;ENST00000391942;ENST00000391945;ENST00000391944	D;D	0.88201	-2.12;-2.35	5.68	4.63	0.57726	.	0.000000	0.85682	D	0.000000	D	0.95755	0.8619	H	0.95679	3.705	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.997;0.957	D	0.96187	0.9135	10	0.87932	D	0	-37.7542	11.6119	0.51064	0.0:0.0:0.8153:0.1847	.	433;511;204	E7EVE9;P18074;Q6ZNQ5	.;ERCC2_HUMAN;.	W	461;487;511;433	ENSP00000375809:R511W;ENSP00000375808:R433W	ENSP00000375805:R461W	R	-	1	2	ERCC2	50550775	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	2.456000	0.44997	1.350000	0.45770	0.561000	0.74099	CGG		0.547	ERCC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109626.2	NM_000400		22	63	0	0	0	1	0	22	63					A	45858935	G	A	45858935	3	1	26	1	0	0	0	0	1	0	0	0	5213	1115	39	2	783	2	ERCC2	19	45858935	Missense_Mutation	SNP	G	TCGA-CH-5754-01A-11D-1576-08	14923608	45858935	13270048	105	1237											
NTN5	126147	broad.mit.edu	37	chr19	49165010	49165010	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcgctcctcctgctgcagcCgcttcaggggccgggcccag	3	6	14	18	4	1	0	1	0	0	0	3	0	3	0	5	3	3	4	5	3	0	1			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr19:49165010C>T	ENST00000270235.4	-	7	1489	c.1394G>A	c.(1393-1395)cGg>cAg	p.R465Q	SEC1P_ENST00000430145.2_RNA	NM_145807.1	NP_665806.1	Q8WTR8	NET5_HUMAN	netrin 5	465	NTR. {ECO:0000255|PROSITE- ProRule:PRU00295}.					extracellular region (GO:0005576)		p.R465Q(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(1)	10						CTGCTGCAGCCGCTTCAGGGG	0.766																																						ENST00000270235.4																			1	Substitution - Missense(1)	p.R465Q(1)	prostate(1)	central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(1)	10						c.(1393-1395)cGg>cAg		netrin 5							5	5	5					19																	49165010		1461	3120	4581	SO:0001583	missense	126147					extracellular region		g.chr19:49165010C>T		CCDS33068.1	19q13.33	2013-03-01			ENSG00000142233	ENSG00000142233		"Netrins"	25208	protein-coding gene	gene with protein product	"Netrin-5"					12477932	Standard	NM_145807		Approved		uc002pkb.3	Q8WTR8		ENST00000270235.4:c.1394G>A	19.37:g.49165010C>T	ENSP00000270235:p.Arg465Gln					SEC1P_ENST00000430145.2_RNA	p.R465Q	NM_145807.1	NP_665806.1	Q8WTR8	NET5_HUMAN			7	1489	-			465			NTR.		Q8N4X9|Q8WU63	Missense_Mutation	SNP	ENST00000270235.4	37	c.1394G>A	CCDS33068.1	.	.	.	.	.	.	.	.	.	.	C	18.23	3.578446	0.65878	.	.	ENSG00000142233	ENST00000270235	T	0.23950	1.88	5.27	1.95	0.26073	Tissue inhibitor of metalloproteinases-like, OB-fold (1);Netrin domain (1);Netrin module, non-TIMP type (2);	0.125505	0.50627	N	0.000108	T	0.35278	0.0926	L	0.48986	1.54	0.39234	D	0.963726	D	0.89917	1.0	D	0.63957	0.92	T	0.14282	-1.0478	10	0.52906	T	0.07	.	6.0395	0.19726	0.155:0.6789:0.0:0.1661	.	465	Q8WTR8	NET5_HUMAN	Q	465	ENSP00000270235:R465Q	ENSP00000270235:R465Q	R	-	2	0	NTN5	53856822	0.001000	0.12720	0.998000	0.56505	0.430000	0.31655	0.154000	0.16343	0.721000	0.32231	-0.140000	0.14226	CGG		0.766	NTN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466176.1	NM_145807		2	1	0	0	0	1	0	2	1					T	49165010	C	T	49165010	3	4	26	1	0	0	0	0	1	0	0	0	10703	652	23	2	79	2	NTN5	19	49165010	Missense_Mutation	SNP	C	TCGA-CH-5754-01A-11D-1576-08	3306075	49165010	9963973	106	1238											
FAM71E1	112703	broad.mit.edu	37	chr19	50979132	50979132	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	atggggaagtcccgaaactgGtcgaattcgccgctctggag	9	8	14	10	4	1	0	0	0	1	0	4	4	2	2	2	4	1	1	2	4	3	1			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr19:50979132G>A	ENST00000600100.1	-	2	682	c.318C>T	c.(316-318)gaC>gaT	p.D106D	EMC10_ENST00000376918.3_5'Flank|FAM71E1_ENST00000595790.1_Silent_p.D106D|EMC10_ENST00000334976.6_5'Flank|EMC10_ENST00000598585.1_5'Flank			Q6IPT2	F71E1_HUMAN	family with sequence similarity 71, member E1	106								p.D106D(1)		breast(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.0077)|GBM - Glioblastoma multiforme(134;0.026)		CCCGAAACTGGTCGAATTCGC	0.627																																						ENST00000600100.1																			1	Substitution - coding silent(1)	p.D106D(1)	prostate(1)	breast(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						c.(316-318)gaC>gaT		family with sequence similarity 71, member E1							50	49	49					19																	50979132		2203	4300	6503	SO:0001819	synonymous_variant	112703							g.chr19:50979132G>A		CCDS33081.1	19q13.33	2007-11-20				ENSG00000142530			25107	protein-coding gene	gene with protein product							Standard	XM_005258472		Approved		uc002psg.3	Q6IPT2		ENST00000600100.1:c.318C>T	19.37:g.50979132G>A						FAM71E1_ENST00000595790.1_Silent_p.D106D	p.D106D			Q6IPT2	F71E1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0077)|GBM - Glioblastoma multiforme(134;0.026)	2	682	-		all_neural(266;0.131)	106					Q96EJ5|Q9BSM9	Silent	SNP	ENST00000600100.1	37	c.318C>T																																																																																					0.627	FAM71E1-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000464754.2			12	48	0	0	0	1	0	12	48					A	50979132	G	A	50979132	2	1	26	1	0	0	0	0	0	0	0	1	5611	1252	44	3		3	FAM71E1	19	50979132	Silent	SNP	G	TCGA-CH-5754-01A-11D-1576-08	1814122	50979132	8149851	107	1239											
KLK1	3816	broad.mit.edu	37	chr19	51322517	51322527	+	Frame_Shift_Del	DEL	GGCTTATTGGG	GGCTTATTGGG	-																															gcactctgacggcgacagaaGgcttattgggggtgccacaa																										TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr19:51322517_51322527delGGCTTATTGGG	ENST00000301420.2	-	5	747_757	c.712_722delCCCAATAAGCC	c.(712-723)cccaataagcctfs	p.PNKP238fs	KLK1_ENST00000448701.2_Frame_Shift_Del_p.PNKP136fs|CTD-2568A17.5_ENST00000326989.5_lincRNA	NM_002257.2	NP_002248.1	P06870	KLK1_HUMAN	kallikrein 1	238	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	serine-type endopeptidase activity (GO:0004252)			breast(1)|large_intestine(4)|lung(7)|urinary_tract(1)	13		all_neural(266;0.0199)		OV - Ovarian serous cystadenocarcinoma(262;0.00224)|GBM - Glioblastoma multiforme(134;0.00399)	Aprotinin(DB06692)	GGCGACAGAAGGCTTATTGGGGGTGCCACAA	0.583																																						ENST00000448701.2																			0				breast(1)|large_intestine(4)|lung(7)|urinary_tract(1)	13						c.(406-417)tfs		kallikrein 1	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)																																			SO:0001589	frameshift_variant	3816				proteolysis	nucleus	serine-type endopeptidase activity	g.chr19:51322517_51322527delGGCTTATTGGG	L10038	CCDS12804.1	19q13.3	2008-02-05	2006-10-27			ENSG00000167748	3.4.21.35	"Kallikreins"	6357	protein-coding gene	gene with protein product		147910	"kallikrein 1, renal/pancreas/salivary"			1684954, 16800724, 16800723	Standard	NM_002257		Approved	Klk6	uc002ptk.1	P06870		ENST00000301420.2:c.712_722delCCCAATAAGCC	19.37:g.51322517_51322527delGGCTTATTGGG	ENSP00000301420:p.Pro238fs					KLK1_ENST00000301420.2_Frame_Shift_Del_p.PNKP238fs	p.PNKP136fs			P06870	KLK1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00224)|GBM - Glioblastoma multiforme(134;0.00399)	6	1730_1740	-		all_neural(266;0.0199)	238			Peptidase S1.		Q66US9|Q86U61|Q8TCV8|Q9BS53|Q9NQU4|Q9UD19|Q9UMJ1	Frame_Shift_Del	DEL	ENST00000301420.2	37	c.406_416delCCCAATAAGCC	CCDS12804.1																																																																																				0.583	KLK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464135.2	NM_002257		13	147						13	147	---	---	---	---	-	51322527	GGCTTATTGGG	-	51322517	7	5	26	1	0	1	0	1	0	0	0	0	8397	1000	35	0	70	0	KLK1	19	51322517	Frame_Shift_Del	DEL	GGCTTATTGGG	TCGA-CH-5754-01A-11D-1576-08	343385	51322517	7806466	108	1240											
ZNF432	9668	broad.mit.edu	37	chr19	52538071	52538071	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cattcattgcatatgtagggTttctctccagtatgagttcg	8	16	9	8	1	2	1	1	1	1	0	5	1	3	1	1	1	1	5	1	1	3	7			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr19:52538071T>A	ENST00000594154.1	-	5	1073	c.861A>T	c.(859-861)aaA>aaT	p.K287N	ZNF432_ENST00000221315.5_Missense_Mutation_p.K287N			O94892	ZN432_HUMAN	zinc finger protein 432	287					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.K287N(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	29		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.0054)|OV - Ovarian serous cystadenocarcinoma(262;0.0182)		ATATGTAGGGTTTCTCTCCAG	0.388																																						ENST00000594154.1																			1	Substitution - Missense(1)	p.K287N(1)	prostate(1)	breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	29						c.(859-861)aaA>aaT		zinc finger protein 432							96	96	96					19																	52538071		2203	4300	6503	SO:0001583	missense	9668				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52538071T>A	AB018341	CCDS12848.1	19q13.41	2013-01-08				ENSG00000256087		"Zinc fingers, C2H2-type", "-"	20810	protein-coding gene	gene with protein product						9872452	Standard	NM_014650		Approved	KIAA0798	uc002pyk.3	O94892		ENST00000594154.1:c.861A>T	19.37:g.52538071T>A	ENSP00000470488:p.Lys287Asn					ZNF432_ENST00000221315.5_Missense_Mutation_p.K287N	p.K287N			O94892	ZN432_HUMAN		GBM - Glioblastoma multiforme(134;0.0054)|OV - Ovarian serous cystadenocarcinoma(262;0.0182)	5	1073	-		all_neural(266;0.117)	287						Missense_Mutation	SNP	ENST00000594154.1	37	c.861A>T	CCDS12848.1	.	.	.	.	.	.	.	.	.	.	T	15.87	2.961192	0.53400	.	.	ENSG00000256087	ENST00000221315	T	0.26067	1.76	2.9	2.9	0.33743	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.45736	0.1357	M	0.74389	2.26	0.23624	N	0.997261	D	0.71674	0.998	D	0.75020	0.985	T	0.17899	-1.0354	9	0.87932	D	0	.	6.2213	0.20683	0.0:0.1295:0.0:0.8705	.	287	O94892	ZN432_HUMAN	N	287	ENSP00000221315:K287N	ENSP00000221315:K287N	K	-	3	2	ZNF432	57229883	0.035000	0.19736	0.997000	0.53966	0.989000	0.77384	-0.463000	0.06696	1.333000	0.45449	0.477000	0.44152	AAA		0.388	ZNF432-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462410.1	NM_014650		48	225	0	0	0	1	0	48	225					A	52538071	T	A	52538071	3	1	26	1	0	0	0	0	1	0	0	0	17903	1722	60	5	1101	5	ZNF432	19	52538071	Missense_Mutation	SNP	T	TCGA-CH-5754-01A-11D-1576-08	1215554	52538071	6590912	109	1241											
BANF2	140836	broad.mit.edu	37	chr20	17716422	17716422	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaggcccagcagacttctcActgcctcaaggagtggtgtg	8	9	13	11	0	2	2	2	1	1	1	3	3	2	3	2	3	2	1	2	3	1	1			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr20:17716422A>C	ENST00000246090.5	+	4	501	c.239A>C	c.(238-240)cAc>cCc	p.H80P	BANF2_ENST00000545418.2_Missense_Mutation_p.H87P|BANF2_ENST00000467330.1_3'UTR|BANF2_ENST00000377805.3_Missense_Mutation_p.H80P	NM_178477.4	NP_848572.3	Q9H503	BAFL_HUMAN	barrier to autointegration factor 2	80						cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.H80P(1)		large_intestine(1)|lung(1)|prostate(3)|skin(1)	6						CAGACTTCTCACTGCCTCAAG	0.542																																						ENST00000246090.5																			1	Substitution - Missense(1)	p.H80P(1)	prostate(1)	large_intestine(1)|lung(1)|prostate(3)|skin(1)	6						c.(238-240)cAc>cCc		barrier to autointegration factor 2							169	141	151					20																	17716422		2203	4300	6503	SO:0001583	missense	140836					cytoplasm|nucleus	DNA binding	g.chr20:17716422A>C	BC054871	CCDS13129.1, CCDS54449.1	20p12.1	2007-12-17	2007-12-17	2007-12-17	ENSG00000125888	ENSG00000125888			16172	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 179"	C20orf179			Standard	NM_178477		Approved	dJ803K15.1, BAF-L, BAFL, BAF2	uc010zrs.1	Q9H503	OTTHUMG00000031949	ENST00000246090.5:c.239A>C	20.37:g.17716422A>C	ENSP00000246090:p.His80Pro					BANF2_ENST00000545418.2_Missense_Mutation_p.H87P|BANF2_ENST00000377805.3_Missense_Mutation_p.H80P|BANF2_ENST00000467330.1_3'UTR	p.H80P	NM_178477.4	NP_848572.3	Q9H503	BAFL_HUMAN			4	501	+			80					D3DW25|F5H3F6|Q7Z4M6	Missense_Mutation	SNP	ENST00000246090.5	37	c.239A>C	CCDS13129.1	.	.	.	.	.	.	.	.	.	.	A	11.77	1.738953	0.30774	.	.	ENSG00000125888	ENST00000545418;ENST00000377805;ENST00000246090	T;T;T	0.54279	0.58;0.58;0.58	5.43	-3.32	0.04973	.	0.631105	0.14915	N	0.291008	T	0.26268	0.0641	.	.	.	0.09310	N	1	B;B	0.20052	0.041;0.021	B;B	0.12156	0.007;0.005	T	0.08911	-1.0699	9	0.33141	T	0.24	.	0.296	0.00265	0.3051:0.2739:0.1644:0.2565	.	87;80	F5H3F6;Q9H503	.;BAFL_HUMAN	P	87;80;80	ENSP00000439128:H87P;ENSP00000367036:H80P;ENSP00000246090:H80P	ENSP00000246090:H80P	H	+	2	0	BANF2	17664422	0.000000	0.05858	0.006000	0.13384	0.967000	0.64934	-0.058000	0.11750	-0.244000	0.09639	0.459000	0.35465	CAC		0.542	BANF2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102261.2	NM_178477		37	86	0	0	0	1	0	37	86					C	17716422	A	C	17716422	3	2	26	1	0	0	0	0	1	0	0	0	1308	159	6	5	270	5	BANF2	20	17716422	Missense_Mutation	SNP	A	TCGA-CH-5754-01A-11D-1576-08		17716422	45309098	110	1242											
SLC35C2	51006	broad.mit.edu	37	chr20	44979077	44979077	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtactcctcctcctcattgtCaccttcctcccgctggctgc	3	13	6	19	1	2	0	2	0	0	0	7	0	7	0	6	1	2	3	6	1	1	3			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr20:44979077C>A	ENST00000372227.1	-	10	1594	c.1054G>T	c.(1054-1056)Gac>Tac	p.D352Y	SLC35C2_ENST00000243896.2_Missense_Mutation_p.D352Y|SLC35C2_ENST00000372229.1_Missense_Mutation_p.D219Y|SLC35C2_ENST00000493599.1_5'UTR|SLC35C2_ENST00000372230.5_Missense_Mutation_p.D352Y|SLC35C2_ENST00000543605.1_Missense_Mutation_p.D381Y|SLC35C2_ENST00000317734.8_Missense_Mutation_p.D331Y	NM_001281458.1|NM_001281460.1	NP_001268387.1|NP_001268389.1	Q9NQQ7	S35C2_HUMAN	solute carrier family 35 (GDP-fucose transporter), member C2	352					negative regulation of gene expression (GO:0010629)|positive regulation of Notch signaling pathway (GO:0045747)|protein O-linked fucosylation (GO:0036066)|transport (GO:0006810)	cis-Golgi network (GO:0005801)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)		p.D352Y(1)		cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)	16		Myeloproliferative disorder(115;0.0122)				TCCTCATTGTCACCTTCCTCC	0.642																																						ENST00000372227.1																			1	Substitution - Missense(1)	p.D352Y(1)	prostate(1)	cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)	16						c.(1054-1056)Gac>Tac		solute carrier family 35 (GDP-fucose transporter), member C2							80	67	71					20																	44979077		2203	4300	6503	SO:0001583	missense	51006				transport	integral to membrane		g.chr20:44979077C>A		CCDS13396.1, CCDS13397.1, CCDS63292.1	20q13.12	2013-07-17	2013-07-17	2003-10-10	ENSG00000080189	ENSG00000080189		"Solute carriers"	17117	protein-coding gene	gene with protein product			"ovarian cancer overexpressed 1", "solute carrier family 35, member C2"	C20orf5, OVCOV1		10810093, 11549316	Standard	NM_173179		Approved	CGI-15, bA394O2.1	uc002xrq.3	Q9NQQ7	OTTHUMG00000033050	ENST00000372227.1:c.1054G>T	20.37:g.44979077C>A	ENSP00000361301:p.Asp352Tyr					SLC35C2_ENST00000243896.2_Missense_Mutation_p.D352Y|SLC35C2_ENST00000493599.1_5'UTR|SLC35C2_ENST00000317734.8_Missense_Mutation_p.D331Y|SLC35C2_ENST00000372229.1_Missense_Mutation_p.D219Y|SLC35C2_ENST00000543605.1_Missense_Mutation_p.D381Y|SLC35C2_ENST00000372230.5_Missense_Mutation_p.D352Y	p.D352Y			Q9NQQ7	S35C2_HUMAN			10	1594	-		Myeloproliferative disorder(115;0.0122)	352					B7Z6V6|E1P5T0|Q53GK3|Q5JW05|Q96CJ8|Q9Y304	Missense_Mutation	SNP	ENST00000372227.1	37	c.1054G>T	CCDS13396.1	.	.	.	.	.	.	.	.	.	.	C	16.76	3.211413	0.58343	.	.	ENSG00000080189	ENST00000317734;ENST00000243896;ENST00000372227;ENST00000372229;ENST00000372230;ENST00000372225;ENST00000543605	T;T	0.78364	-1.17;0.8	4.63	3.67	0.42095	.	0.536765	0.17902	N	0.158155	T	0.72819	0.3508	N	0.19112	0.55	0.09310	N	0.999997	P;B;P;P	0.48694	0.471;0.272;0.914;0.86	B;B;P;P	0.53988	0.421;0.226;0.739;0.552	T	0.63800	-0.6555	10	0.72032	D	0.01	-4.5989	8.9276	0.35650	0.0:0.8974:0.0:0.1026	.	381;217;331;352	F5H4T9;B7Z6R4;Q9NQQ7-2;Q9NQQ7	.;.;.;S35C2_HUMAN	Y	331;352;352;219;352;220;381	ENSP00000318960:D331Y;ENSP00000361303:D219Y	ENSP00000243896:D352Y	D	-	1	0	SLC35C2	44412484	0.681000	0.27614	0.014000	0.15608	0.959000	0.62525	1.633000	0.37113	1.138000	0.42230	0.655000	0.94253	GAC		0.642	SLC35C2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080363.1	NM_015945		33	135	1	0	1.03484e-13	1	1.12738e-13	33	135					A	44979077	C	A	44979077	3	1	26	1	0	0	0	0	1	0	0	0	14580	826	29	5	47	5	SLC35C2	20	44979077	Missense_Mutation	SNP	C	TCGA-CH-5754-01A-11D-1576-08	27262655	44979077	18046443	111	1243											
TPTE	7179	broad.mit.edu	37	chr21	10921956	10921956	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttgcagttgaacatatttcaGaggcaataaggaaggcacaa	16	9	10	6	0	1	2	1	1	0	1	1	3	1	3	0	3	2	4	0	3	6	5			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr21:10921956G>C	ENST00000361285.4	-	18	1396	c.1067C>G	c.(1066-1068)tCt>tGt	p.S356C	TPTE_ENST00000298232.7_Missense_Mutation_p.S338C|TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000342420.5_Missense_Mutation_p.S318C	NM_199261.2	NP_954870	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	356	Phosphatase tensin-type. {ECO:0000255|PROSITE-ProRule:PRU00590}.				peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	ion channel activity (GO:0005216)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.S338Y(1)|p.S356Y(1)|p.S338C(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		ACATATTTCAGAGGCAATAAG	0.343																																						ENST00000298232.7																			3	Substitution - Missense(3)	p.S338Y(1)|p.S356Y(1)|p.S338C(1)	lung(2)|prostate(1)	NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130						c.(1012-1014)tCt>tGt		transmembrane phosphatase with tensin homology							141	121	128					21																	10921956		2203	4299	6502	SO:0001583	missense	7179				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr21:10921956G>C	AF007118	CCDS74771.1, CCDS74772.1, CCDS74773.1	21p11	2011-06-09			ENSG00000166157	ENSG00000274391		"Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"	12023	protein-coding gene	gene with protein product	"PTEN-related tyrosine phosphatase", "cancer/testis antigen 44"	604336				10830953, 14659893	Standard	NM_001290224		Approved	PTEN2, CT44	uc002yip.1	P56180	OTTHUMG00000074127	ENST00000361285.4:c.1067C>G	21.37:g.10921956G>C	ENSP00000355208:p.Ser356Cys					TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000361285.4_Missense_Mutation_p.S356C|TPTE_ENST00000342420.5_Missense_Mutation_p.S318C	p.S338C	NM_199259.2	NP_954868.1	P56180	TPTE_HUMAN	Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	17	1380	-			356			Phosphatase tensin-type.		B2RAP7|C9J6D6|C9JKK8|Q6XPS4|Q6XPS5|Q71JA8|Q8NCS8	Missense_Mutation	SNP	ENST00000361285.4	37	c.1013C>G	CCDS13560.2	.	.	.	.	.	.	.	.	.	.	.	3.216	-0.160629	0.06502	.	.	ENSG00000166157	ENST00000298232;ENST00000361285;ENST00000342420	D;D;D	0.86432	-2.12;-2.12;-2.12	2.26	-1.06	0.10002	Phosphatase tensin type (1);Dual specificity phosphatase, catalytic domain (1);	0.279979	0.44483	N	0.000445	T	0.75391	0.3843	L	0.41356	1.27	0.09310	N	0.999996	B;B;B	0.14012	0.009;0.004;0.005	B;B;B	0.18561	0.02;0.02;0.022	T	0.61461	-0.7058	10	0.51188	T	0.08	-5.384	1.0677	0.01615	0.2282:0.3952:0.2255:0.1511	.	318;338;356	P56180-3;P56180-2;P56180	.;.;TPTE_HUMAN	C	338;356;318	ENSP00000298232:S338C;ENSP00000355208:S356C;ENSP00000344441:S318C	ENSP00000298232:S338C	S	-	2	0	TPTE	9943827	0.017000	0.18338	0.002000	0.10522	0.006000	0.05464	1.397000	0.34543	-0.456000	0.07043	-1.490000	0.00973	TCT		0.343	TPTE-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000157413.1			28	170	0	0	0	1	0	28	170					C	10921956	G	C	10921956	3	2	26	1	0	0	0	0	1	0	0	0	16427	942	33	5	616	5	TPTE	21	10921956	Missense_Mutation	SNP	G	TCGA-CH-5754-01A-11D-1576-08		10921956	37207939	112	1244											
RIMBP3	85376	broad.mit.edu	37	chr22	20458475	20458475	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgaccatctggcacagccCtctgtccaccactccctggg	6	8	8	19	0	2	1	0	1	2	0	4	1	4	1	6	2	1	1	6	2	0	0			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr22:20458475C>T	ENST00000426804.1	-	1	3311	c.2827G>A	c.(2827-2829)Ggg>Agg	p.G943R	RN7SKP131_ENST00000363006.1_RNA|SCARNA18_ENST00000516215.1_RNA	NM_015672.1	NP_056487.1	Q9UFD9	RIM3A_HUMAN	RIMS binding protein 3	943								p.G943R(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	13	Colorectal(54;0.0993)|Melanoma(16;0.165)		LUSC - Lung squamous cell carcinoma(15;0.0405)|Lung(15;0.224)			TGGCACAGCCCTCTGTCCACC	0.577																																						ENST00000426804.1																			1	Substitution - Missense(1)	p.G943R(1)	prostate(1)	breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	13						c.(2827-2829)Ggg>Agg		RIMS binding protein 3							111	123	119					22																	20458475		2031	4195	6226	SO:0001583	missense	85376							g.chr22:20458475C>T	AB051453	CCDS46665.1	22q11.21	2014-05-06			ENSG00000196622	ENSG00000275793			29344	protein-coding gene	gene with protein product		612699				11258795, 17855024	Standard	NM_015672		Approved	KIAA1666, RIMBP3.1, RIMBP3A	uc002zsd.4	Q9UFD9	OTTHUMG00000188355	ENST00000426804.1:c.2827G>A	22.37:g.20458475C>T	ENSP00000391564:p.Gly943Arg						p.G943R	NM_015672.1	NP_056487.1			LUSC - Lung squamous cell carcinoma(15;0.0405)|Lung(15;0.224)		1	3311	-	Colorectal(54;0.0993)|Melanoma(16;0.165)							Q8IYP7|Q9BY94|Q9UFQ5	Missense_Mutation	SNP	ENST00000426804.1	37	c.2827G>A	CCDS46665.1	.	.	.	.	.	.	.	.	.	.	C	15.10	2.732554	0.48939	.	.	ENSG00000196622	ENST00000355186;ENST00000426804	T	0.17213	2.29	3.87	3.87	0.44632	.	0.311468	0.29522	N	0.011911	T	0.11836	0.0288	N	0.17082	0.46	0.09310	N	1	P	0.51653	0.947	P	0.45660	0.489	T	0.17198	-1.0377	10	0.17832	T	0.49	-5.0567	11.7453	0.51817	0.0:1.0:0.0:0.0	.	849	Q9UFD9	RIM3A_HUMAN	R	849;943	ENSP00000391564:G943R	ENSP00000347318:G849R	G	-	1	0	RIMBP3	18838475	0.030000	0.19436	0.004000	0.12327	0.064000	0.16182	3.065000	0.49994	1.886000	0.54624	0.398000	0.26397	GGG		0.577	RIMBP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318945.2	NM_015672		19	84	0	0	0	1	0	19	84					T	20458475	C	T	20458475	3	4	26	1	0	0	0	0	1	0	0	0	13364	681	24	3	2096	3	RIMBP3	22	20458475	Missense_Mutation	SNP	C	TCGA-CH-5754-01A-11D-1576-08		20458475	30846091	113	1245											
SGSM1	129049	broad.mit.edu	37	chr22	25246361	25246381	+	In_Frame_Del	DEL	CCTGGACAAAATTGTGCATTA	CCTGGACAAAATTGTGCATTA	-																															acagccttgtttgagaaggtCctggacaaaattgtgcatta																										TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr22:25246361_25246381delCCTGGACAAAATTGTGCATTA	ENST00000400359.4	+	5	424_444	c.417_437delCCTGGACAAAATTGTGCATTA	c.(415-438)gtcctggacaaaattgtgcattac>gtc	p.LDKIVHY140del	SGSM1_ENST00000400358.4_In_Frame_Del_p.LDKIVHY140del	NM_001039948.2|NM_133454.2	NP_001035037.1|NP_597711.1	Q2NKQ1	SGSM1_HUMAN	small G protein signaling modulator 1	140	RUN. {ECO:0000255|PROSITE- ProRule:PRU00178}.					Golgi apparatus (GO:0005794)	Rab GTPase activator activity (GO:0005097)			NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(14)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	41						TTGAGAAGGTCCTGGACAAAATTGTGCATTACCTTGTGGAA	0.557											OREG0026418	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000400358.4																			0				NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(14)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	41						c.(415-438)gtc>gt		small G protein signaling modulator 1																																				SO:0001651	inframe_deletion	129049					Golgi apparatus	Rab GTPase activator activity	g.chr22:25246361_25246381delCCTGGACAAAATTGTGCATTA	AB075821	CCDS46674.1, CCDS46675.1, CCDS74834.1	22q11.23	2013-07-09	2007-08-14	2007-08-14	ENSG00000167037	ENSG00000167037		"Small G protein signaling modulators"	29410	protein-coding gene	gene with protein product		611417	"RUN and TBC1 domain containing 2"	RUTBC2		11853319, 17509819, 22637480	Standard	NM_133454		Approved	KIAA1941	uc003abg.2	Q2NKQ1	OTTHUMG00000150837	ENST00000400359.4:c.417_437delCCTGGACAAAATTGTGCATTA	22.37:g.25246361_25246381delCCTGGACAAAATTGTGCATTA	ENSP00000383212:p.Leu140_Tyr146del		OREG0026418	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	777	SGSM1_ENST00000400359.4_In_Frame_Del_p.VLDKIVHY139del	p.VLDKIVHY139del	NM_001098497.1|NM_001098498.1	NP_001091967.1|NP_001091968.1	Q2NKQ1	SGSM1_HUMAN			5	474_494	+			139			RUN.		A5LGW1|A8MUT4|B0QYW0|B0QYW1|B5MEG1|B9A6J4|Q5TFL3|Q8TF60	In_Frame_Del	DEL	ENST00000400359.4	37	c.417_437delCCTGGACAAAATTGTGCATTA	CCDS46674.1																																																																																				0.557	SGSM1-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000320282.1	XM_059318		7	36						7	36	---	---	---	---	-	25246381	CCTGGACAAAATTGTGCATTA	-	25246361	7	5	26	1	0	1	0	1	0	0	0	0	14222	842	30	0	435	0	SGSM1	22	25246361	In_Frame_Del	DEL	CCTGGACAAAATTGTGCATTA	TCGA-CH-5754-01A-11D-1576-08	4787886	25246361	26058205	114	1246											
PKDREJ	10343	broad.mit.edu	37	chr22	46658215	46658215	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ccaagcatcaccgcctgcagGgaactcctgacgatccagac	11	5	9	16	2	1	2	1	1	0	1	3	4	3	3	5	1	3	2	5	1	2	0			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr22:46658215G>T	ENST00000253255.5	-	1	1004	c.1005C>A	c.(1003-1005)tcC>tcA	p.S335S		NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN	polycystin (PKD) family receptor for egg jelly	335	REJ. {ECO:0000255|PROSITE- ProRule:PRU00511}.				acrosome reaction (GO:0007340)|calcium ion transmembrane transport (GO:0070588)|detection of mechanical stimulus (GO:0050982)|neuropeptide signaling pathway (GO:0007218)|regulation of acrosome reaction (GO:0060046)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)	p.S335S(1)		NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		CCGCCTGCAGGGAACTCCTGA	0.552																																						ENST00000253255.5																			1	Substitution - coding silent(1)	p.S335S(1)	prostate(1)	NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73						c.(1003-1005)tcC>tcA		polycystin (PKD) family receptor for egg jelly							121	128	126					22																	46658215		2203	4300	6503	SO:0001819	synonymous_variant	10343				acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity	g.chr22:46658215G>T	AF116458	CCDS14073.1	22q13.31	2013-07-31	2013-07-31		ENSG00000130943	ENSG00000130943			9015	protein-coding gene	gene with protein product		604670	"polycystic kidney disease (polycystin) and REJ (sperm receptor for egg jelly, sea urchin homolog)-like", "polycystic kidney disease (polycystin) and REJ (sperm receptor for egg jelly homolog, sea urchin)-like", "polycystic kidney disease (polycystin) and REJ homolog (sperm receptor for egg jelly homolog, sea urchin)"			9949214, 10591208	Standard	NM_006071		Approved		uc003bhh.3	Q9NTG1	OTTHUMG00000150493	ENST00000253255.5:c.1005C>A	22.37:g.46658215G>T							p.S335S	NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)	1	1004	-		Ovarian(80;0.00965)|all_neural(38;0.0416)	335			REJ.		B1AJY3|O95850	Silent	SNP	ENST00000253255.5	37	c.1005C>A	CCDS14073.1																																																																																				0.552	PKDREJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318466.1	NM_006071		50	196	1	0	3.28156e-27	1	3.72651e-27	50	196					T	46658215	G	T	46658215	2	4	26	1	0	0	0	0	0	0	0	1	11970	1219	43	5		5	PKDREJ	22	46658215	Silent	SNP	G	TCGA-CH-5754-01A-11D-1576-08	21411854	46658215	4646351	115	1247											
RBM10	8241	broad.mit.edu	37	chrX	47039694	47039694	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	accatcaatgttgagtttgcCaagggttctaagaggtcagg	11	11	12	7	0	3	2	2	1	1	1	3	2	3	2	2	3	1	3	2	3	3	4			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chrX:47039694C>G	ENST00000377604.3	+	11	1888	c.1146C>G	c.(1144-1146)gcC>gcG	p.A382A	RBM10_ENST00000329236.7_Silent_p.A304A|RBM10_ENST00000345781.6_Silent_p.A305A|RBM10_ENST00000478410.1_3'UTR	NM_001204467.1|NM_001204468.1|NM_005676.4	NP_001191396.1|NP_001191397.1|NP_005667.2	P98175	RBM10_HUMAN	RNA binding motif protein 10	382	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				3'-UTR-mediated mRNA stabilization (GO:0070935)|mRNA processing (GO:0006397)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|zinc ion binding (GO:0008270)	p.A382A(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	48						TTGAGTTTGCCAAGGGTTCTA	0.632																																					Melanoma(171;120 2705 19495 39241)	ENST00000377604.3																			1	Substitution - coding silent(1)	p.A382A(1)	prostate(1)	breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	48						c.(1144-1146)gcC>gcG		RNA binding motif protein 10							56	41	47					X																	47039694		2202	4297	6499	SO:0001819	synonymous_variant	8241				mRNA processing|RNA splicing	chromatin remodeling complex	nucleotide binding|RNA binding|zinc ion binding	g.chrX:47039694C>G	U35373	CCDS14274.1, CCDS56600.1, CCDS75969.1	Xp11.3	2014-06-09			ENSG00000182872	ENSG00000182872		"Zinc fingers, RAN-binding domain containing", "G patch domain containing", "RNA binding motif (RRM) containing"	9896	protein-coding gene	gene with protein product		300080				8590280, 8808293	Standard	NM_005676		Approved	DXS8237E, KIAA0122, GPATC9, ZRANB5, GPATCH9	uc004dhi.3	P98175	OTTHUMG00000021432	ENST00000377604.3:c.1146C>G	X.37:g.47039694C>G						RBM10_ENST00000345781.6_Silent_p.A305A|RBM10_ENST00000468791.1_Intron|RBM10_ENST00000329236.7_Silent_p.A304A	p.A382A	NM_001204467.1|NM_001204468.1|NM_005676.4	NP_001191396.1|NP_001191397.1|NP_005667.2	P98175	RBM10_HUMAN			11	1888	+			382			RRM 2.		C4AM81|Q14136|Q5JRR2|Q9BTE4|Q9BTX0|Q9NTB1	Silent	SNP	ENST00000377604.3	37	c.1146C>G	CCDS14274.1																																																																																				0.632	RBM10-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056381.1	NM_005676		17	9	0	0	0	1	0	17	9					G	47039694	C	G	47039694	2	3	26	1	0	0	0	0	0	0	0	1	13111	581	21	5		5	RBM10	23	47039694	Silent	SNP	C	TCGA-CH-5754-01A-11D-1576-08		47039694	108230866	116	1248											
EFCAB7	84455	broad.mit.edu	37	chr1	63999825	63999825	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaaaacatctgtttccttcAcagttaccatgggggctaat	11	13	7	10	0	3	0	2	0	1	0	4	0	4	0	2	2	2	3	2	2	4	4			TCGA-CH-5761-01A-11D-1576-08	TCGA-CH-5761-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb9b1203-fc4a-40c9-867a-436a54c61cf3	b8efa698-2592-447e-b038-3b4da4ebf6de	g.chr1:63999825A>C	ENST00000371088.4	+	6	988	c.742A>C	c.(742-744)Aca>Cca	p.T248P	RNU7-123P_ENST00000515911.1_RNA	NM_032437.2	NP_115813.2	A8K855	EFCB7_HUMAN	EF-hand calcium binding domain 7	248			T -> I (in dbSNP:rs6693255). {ECO:0000269|PubMed:15489334}.				calcium ion binding (GO:0005509)	p.T248P(1)		breast(1)|endometrium(4)|large_intestine(4)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	19						TGTTTCCTTCACAGTTACCAT	0.358																																						ENST00000371088.4																			1	Substitution - Missense(1)	p.T248P(1)	prostate(1)	breast(1)|endometrium(4)|large_intestine(4)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	19						c.(742-744)Aca>Cca		EF-hand calcium binding domain 7							101	99	99					1																	63999825		2203	4300	6503	SO:0001583	missense	84455						calcium ion binding	g.chr1:63999825A>C	BC015814	CCDS30737.1	1p31.3	2013-01-10			ENSG00000203965	ENSG00000203965		"EF-hand domain containing"	29379	protein-coding gene	gene with protein product						11347906	Standard	NM_032437		Approved	KIAA1799, RP4-534K7.1	uc001dbf.3	A8K855	OTTHUMG00000008983	ENST00000371088.4:c.742A>C	1.37:g.63999825A>C	ENSP00000360129:p.Thr248Pro						p.T248P	NM_032437.2	NP_115813.2	A8K855	EFCB7_HUMAN			6	988	+			248		T -> I (in dbSNP:rs6693255).			Q658P0|Q96B95|Q96JM6	Missense_Mutation	SNP	ENST00000371088.4	37	c.742A>C	CCDS30737.1	.	.	.	.	.	.	.	.	.	.	A	9.920	1.211841	0.22289	.	.	ENSG00000203965	ENST00000371088	T	0.59083	0.29	5.65	4.46	0.54185	.	0.529823	0.23072	N	0.052243	T	0.38081	0.1027	L	0.47716	1.5	0.80722	D	1	P	0.45283	0.855	B	0.41571	0.36	T	0.48479	-0.9032	10	0.72032	D	0.01	-5.8298	9.6824	0.40078	0.8454:0.0:0.0:0.1546	.	248	A8K855	EFCB7_HUMAN	P	248	ENSP00000360129:T248P	ENSP00000360129:T248P	T	+	1	0	EFCAB7	63772413	0.553000	0.26513	0.997000	0.53966	0.472000	0.32918	4.268000	0.58883	2.146000	0.66826	0.533000	0.62120	ACA		0.358	EFCAB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024910.1	NM_032437		64	121	0	0	0	0.870114	0	64	121					C	63999825	A	C	63999825	3	2	27	1	0	0	0	0	1	0	0	0	4940	159	6	5	760	5	EFCAB7	1	63999825	Missense_Mutation	SNP	A	TCGA-CH-5761-01A-11D-1576-08		63999825	185250796	1	1249											
DPYD	1806	broad.mit.edu	37	chr1	97564128	97564128	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attttgttctttcagtctaaTcttgttttctgctatgattt	6	24	5	6	0	5	1	1	1	4	0	5	1	5	1	0	0	1	3	0	0	2	10			TCGA-CH-5761-01A-11D-1576-08	TCGA-CH-5761-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb9b1203-fc4a-40c9-867a-436a54c61cf3	b8efa698-2592-447e-b038-3b4da4ebf6de	g.chr1:97564128T>C	ENST00000370192.3	-	21	2783	c.2683A>G	c.(2683-2685)Att>Gtt	p.I895V	DPYD-AS1_ENST00000422980.1_RNA	NM_000110.3	NP_000101	Q12882	DPYD_HUMAN	dihydropyrimidine dehydrogenase	895					beta-alanine biosynthetic process (GO:0019483)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase catabolic process (GO:0006145)|pyrimidine nucleobase catabolic process (GO:0006208)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|small molecule metabolic process (GO:0044281)|thymidine catabolic process (GO:0006214)|thymine catabolic process (GO:0006210)|UMP biosynthetic process (GO:0006222)|uracil catabolic process (GO:0006212)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	4 iron, 4 sulfur cluster binding (GO:0051539)|dihydroorotate dehydrogenase activity (GO:0004152)|dihydropyrimidine dehydrogenase (NADP+) activity (GO:0017113)|flavin adenine dinucleotide binding (GO:0050660)|metal ion binding (GO:0046872)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)	p.I895V(2)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	83		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	Capecitabine(DB01101)|Flavin adenine dinucleotide(DB03147)|Fluorouracil(DB00544)	TTCAGTCTAATCTTGTTTTCT	0.363																																						ENST00000370192.3																			2	Substitution - Missense(2)	p.I895V(2)	prostate(2)	NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	83						c.(2683-2685)Att>Gtt		dihydropyrimidine dehydrogenase	Capecitabine(DB01101)|Enfuvirtide(DB00109)						145	145	145					1																	97564128		2203	4300	6503	SO:0001583	missense	1806				'de novo' pyrimidine base biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|UMP biosynthetic process|uracil catabolic process	cytosol	4 iron, 4 sulfur cluster binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|NADP binding|protein homodimerization activity	g.chr1:97564128T>C	U20938	CCDS30777.1, CCDS53346.1	1p22	2014-09-17			ENSG00000188641	ENSG00000188641	1.3.1.2		3012	protein-coding gene	gene with protein product		612779				7713523	Standard	NM_000110		Approved	DPD	uc001drv.3	Q12882	OTTHUMG00000039683	ENST00000370192.3:c.2683A>G	1.37:g.97564128T>C	ENSP00000359211:p.Ile895Val					DPYD-AS1_ENST00000422980.1_RNA	p.I895V	NM_000110.3	NP_000101.2	Q12882	DPYD_HUMAN		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	21	2783	-		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)	895					A2RRQ2|A2RRQ3|A8K5A2|A8MWG9|B1AN21|E9PFN1|Q16694|Q16761|Q32NB0|Q96HL6|Q96TH1	Missense_Mutation	SNP	ENST00000370192.3	37	c.2683A>G	CCDS30777.1	.	.	.	.	.	.	.	.	.	.	T	9.568	1.120335	0.20877	.	.	ENSG00000188641	ENST00000370192	D	0.90133	-2.62	5.66	3.15	0.36227	.	0.191957	0.46442	D	0.000290	T	0.73218	0.3559	L	0.34521	1.04	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.68773	-0.5320	10	0.30078	T	0.28	-5.2298	7.4037	0.26979	0.1334:0.0:0.2774:0.5892	.	895	Q12882	DPYD_HUMAN	V	895	ENSP00000359211:I895V	ENSP00000359211:I895V	I	-	1	0	DPYD	97336716	0.996000	0.38824	0.988000	0.46212	0.814000	0.46013	0.398000	0.20899	1.053000	0.40415	0.482000	0.46254	ATT		0.363	DPYD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095698.3	NM_000110		68	131	0	0	0	0.870114	0	68	131					C	97564128	T	C	97564128	3	2	27	1	0	0	0	0	1	0	0	0	4745	1435	50	4	406	4	DPYD	1	97564128	Missense_Mutation	SNP	T	TCGA-CH-5761-01A-11D-1576-08	33564303	97564128	151686493	2	1250											
TSPAN2	10100	broad.mit.edu	37	chr1	115601593	115601593	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcatacatggtctgaacatGtcggatagcctgaagaaata	14	11	9	7	1	2	3	1	2	1	1	3	4	2	4	1	2	3	0	1	2	6	4			TCGA-CH-5761-01A-11D-1576-08	TCGA-CH-5761-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb9b1203-fc4a-40c9-867a-436a54c61cf3	b8efa698-2592-447e-b038-3b4da4ebf6de	g.chr1:115601593G>T	ENST00000369516.2	-	5	386	c.355C>A	c.(355-357)Cat>Aat	p.H119N	TSPAN2_ENST00000491992.1_5'Flank|TSPAN2_ENST00000369515.2_Missense_Mutation_p.H94N|TSPAN2_ENST00000369514.2_Missense_Mutation_p.H119N	NM_005725.4	NP_005716.2	O60636	TSN2_HUMAN	tetraspanin 2	119					astrocyte development (GO:0014002)|axon development (GO:0061564)|brain development (GO:0007420)|inflammatory response (GO:0006954)|microglia development (GO:0014005)|myelination (GO:0042552)|oligodendrocyte differentiation (GO:0048709)	integral component of membrane (GO:0016021)|myelin sheath (GO:0043209)|plasma membrane (GO:0005886)		p.H119N(1)		central_nervous_system(1)|large_intestine(4)|lung(3)|pancreas(1)|prostate(1)	10	Lung SC(450;0.211)	all_cancers(81;2.9e-07)|all_epithelial(167;1.42e-06)|all_lung(203;6.72e-06)|Lung NSC(69;1.13e-05)|Acute lymphoblastic leukemia(138;0.191)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|all cancers(265;0.159)|Epithelial(280;0.179)		GTCTGAACATGTCGGATAGCC	0.418																																						ENST00000369516.2																			1	Substitution - Missense(1)	p.H119N(1)	prostate(1)	central_nervous_system(1)|large_intestine(4)|lung(3)|pancreas(1)|prostate(1)	10						c.(355-357)Cat>Aat		tetraspanin 2							211	196	201					1																	115601593		2203	4300	6503	SO:0001583	missense	10100					integral to membrane		g.chr1:115601593G>T	AF054839	CCDS881.1	1p13.1	2013-02-14			ENSG00000134198	ENSG00000134198		"Tetraspanins"	20659	protein-coding gene	gene with protein product		613133				9714763, 11739647	Standard	NM_005725		Approved	TSPAN-2, TSN2, FLJ12082	uc001eft.3	O60636	OTTHUMG00000011878	ENST00000369516.2:c.355C>A	1.37:g.115601593G>T	ENSP00000358529:p.His119Asn					TSPAN2_ENST00000369515.2_Missense_Mutation_p.H94N|TSPAN2_ENST00000369514.2_Missense_Mutation_p.H119N	p.H119N	NM_005725.4	NP_005716.2	O60636	TSN2_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|all cancers(265;0.159)|Epithelial(280;0.179)	5	386	-	Lung SC(450;0.211)	all_cancers(81;2.9e-07)|all_epithelial(167;1.42e-06)|all_lung(203;6.72e-06)|Lung NSC(69;1.13e-05)|Acute lymphoblastic leukemia(138;0.191)	119					D6PTH4|Q5TET2|Q8WU05	Missense_Mutation	SNP	ENST00000369516.2	37	c.355C>A	CCDS881.1	.	.	.	.	.	.	.	.	.	.	G	9.247	1.039864	0.19669	.	.	ENSG00000134198	ENST00000369516;ENST00000369515;ENST00000433172;ENST00000369514	T;D;T;T	0.86432	-1.19;-2.12;-1.19;-1.19	5.8	4.87	0.63330	Tetraspanin, EC2 domain (1);CD81 extracellular domain (1);	0.382688	0.34245	N	0.004136	T	0.51398	0.1672	N	0.02539	-0.55	0.29799	N	0.832637	B	0.12013	0.005	B	0.10450	0.005	T	0.34329	-0.9833	10	0.27082	T	0.32	.	8.4593	0.32919	0.0:0.2526:0.6132:0.1342	.	119	O60636	TSN2_HUMAN	N	119;94;113;119	ENSP00000358529:H119N;ENSP00000358528:H94N;ENSP00000415256:H113N;ENSP00000358527:H119N	ENSP00000358527:H119N	H	-	1	0	TSPAN2	115403116	0.989000	0.36119	0.610000	0.28997	0.387000	0.30353	2.908000	0.48750	2.755000	0.94549	0.655000	0.94253	CAT		0.418	TSPAN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032828.1	NM_005725		6	325	1	0	3.59834e-05	0.217242	4.13602e-05	6	325					T	115601593	G	T	115601593	3	4	27	1	0	0	0	0	1	0	0	0	16641	1377	48	5	326	5	TSPAN2	1	115601593	Missense_Mutation	SNP	G	TCGA-CH-5761-01A-11D-1576-08	18037465	115601593	133649028	3	1251											
CHD1L	9557	broad.mit.edu	37	chr1	146731533	146731533	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggatgaagctcacaggttGaaaaaccaaagctccctgct	13	8	10	10	0	1	2	1	2	0	0	2	3	2	3	2	2	4	4	2	2	4	1			TCGA-CH-5761-01A-11D-1576-08	TCGA-CH-5761-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb9b1203-fc4a-40c9-867a-436a54c61cf3	b8efa698-2592-447e-b038-3b4da4ebf6de	g.chr1:146731533G>T	ENST00000369258.4	+	6	557	c.537G>T	c.(535-537)ttG>ttT	p.L179F	CHD1L_ENST00000431239.1_Missense_Mutation_p.L179F|CHD1L_ENST00000369259.3_Intron|CHD1L_ENST00000361293.5_5'UTR|CHD1L_ENST00000467213.1_3'UTR	NM_001256336.1|NM_004284.4|NM_024568.2	NP_001243265.1|NP_004275.4|NP_078844.2	Q86WJ1	CHD1L_HUMAN	chromodomain helicase DNA binding protein 1-like	179	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				ATP catabolic process (GO:0006200)|cellular response to DNA damage stimulus (GO:0006974)|chromatin remodeling (GO:0006338)|DNA duplex unwinding (GO:0032508)|DNA repair (GO:0006281)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|nucleotide binding (GO:0000166)	p.L179F(2)		breast(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(15)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33	all_hematologic(923;0.0487)					CTCACAGGTTGAAAAACCAAA	0.358																																						ENST00000369258.4																			2	Substitution - Missense(2)	p.L179F(2)	prostate(2)	breast(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(15)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33						c.(535-537)ttG>ttT		chromodomain helicase DNA binding protein 1-like							180	190	187					1																	146731533		2203	4300	6503	SO:0001583	missense	9557				chromatin remodeling|DNA repair	cytoplasm|nucleus|plasma membrane	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding	g.chr1:146731533G>T	AF054177	CCDS927.1, CCDS58021.1, CCDS58022.1, CCDS72882.1	1q21.1	2008-02-05			ENSG00000131778	ENSG00000131778			1916	protein-coding gene	gene with protein product		613039				9653160	Standard	NM_004284		Approved	ALC1	uc001epm.5	Q86WJ1	OTTHUMG00000150271	ENST00000369258.4:c.537G>T	1.37:g.146731533G>T	ENSP00000358262:p.Leu179Phe					CHD1L_ENST00000431239.1_Missense_Mutation_p.L179F|CHD1L_ENST00000369259.3_Intron|CHD1L_ENST00000467213.1_3'UTR|CHD1L_ENST00000361293.5_5'UTR	p.L179F	NM_001256336.1|NM_004284.4|NM_024568.2	NP_001243265.1|NP_004275.4|NP_078844.2	Q86WJ1	CHD1L_HUMAN			6	557	+	all_hematologic(923;0.0487)		179			Helicase ATP-binding.		A5YM64|B4DDE1|B5MDZ7|Q53EZ3|Q5VXX7|Q6DD94|Q6PK83|Q86XH3|Q96HF7|Q96SP3|Q9BVJ1|Q9NVV8	Missense_Mutation	SNP	ENST00000369258.4	37	c.537G>T	CCDS927.1	.	.	.	.	.	.	.	.	.	.	G	19.44	3.828927	0.71258	.	.	ENSG00000131778	ENST00000431239;ENST00000369258;ENST00000436230;ENST00000254086	D;D	0.95103	-3.61;-3.61	4.96	4.96	0.65561	DEAD-like helicase (2);SNF2-related (1);	0.000000	0.64402	D	0.000001	D	0.96981	0.9014	M	0.85041	2.73	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.997	D	0.97512	1.0067	10	0.87932	D	0	.	14.0881	0.64971	0.0:0.0:1.0:0.0	.	179;179	Q86WJ1-2;Q86WJ1	.;CHD1L_HUMAN	F	179;179;79;140	ENSP00000389031:L179F;ENSP00000358262:L179F	ENSP00000254086:L140F	L	+	3	2	CHD1L	145198157	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.572000	0.45999	2.460000	0.83146	0.650000	0.86243	TTG		0.358	CHD1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040377.1	NM_004284		152	308	1	0	2.91861e-41	0.870114	3.74181e-41	152	308					T	146731533	G	T	146731533	3	4	27	1	0	0	0	0	1	0	0	0	3324	1281	45	5	559	5	CHD1L	1	146731533	Missense_Mutation	SNP	G	TCGA-CH-5761-01A-11D-1576-08	31129940	146731533	102519088	4	1252											
HMCN1	83872	broad.mit.edu	37	chr1	186077666	186077666	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aacagacaagtgacattggaAtgcaagtcagatgcagtgcc	15	7	11	8	0	1	3	1	1	0	2	1	4	1	4	1	1	4	2	1	1	4	1			TCGA-CH-5761-01A-11D-1576-08	TCGA-CH-5761-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb9b1203-fc4a-40c9-867a-436a54c61cf3	b8efa698-2592-447e-b038-3b4da4ebf6de	g.chr1:186077666A>C	ENST00000271588.4	+	71	11155	c.10926A>C	c.(10924-10926)gaA>gaC	p.E3642D	HMCN1_ENST00000367492.2_Missense_Mutation_p.E3642D	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	3642	Ig-like C2-type 35.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						TGACATTGGAATGCAAGTCAG	0.423																																						ENST00000271588.4																			0				NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						c.(10924-10926)gaA>gaC		hemicentin 1							117	104	108					1																	186077666		2203	4300	6503	SO:0001583	missense	83872				response to stimulus|visual perception	basement membrane	calcium ion binding	g.chr1:186077666A>C	AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"Fibulins", "Immunoglobulin superfamily / I-set domain containing"	19194	protein-coding gene	gene with protein product	"fibulin 6"	608548	"age-related macular degeneration 1 (senile macular degeneration)"	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.10926A>C	1.37:g.186077666A>C	ENSP00000271588:p.Glu3642Asp					HMCN1_ENST00000367492.2_Missense_Mutation_p.E3642D	p.E3642D	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN			71	11155	+			3642			Ig-like C2-type 35.		A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Missense_Mutation	SNP	ENST00000271588.4	37	c.10926A>C	CCDS30956.1	.	.	.	.	.	.	.	.	.	.	A	23.4	4.415634	0.83449	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	T;T	0.68479	-0.33;-0.33	5.87	3.55	0.40652	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.71617	0.3361	L	0.45051	1.395	0.53005	D	0.999963	D	0.69078	0.997	D	0.80764	0.994	T	0.68387	-0.5422	10	0.34782	T	0.22	.	9.2257	0.37405	0.7818:0.0:0.2182:0.0	.	3642	Q96RW7	HMCN1_HUMAN	D	3642	ENSP00000271588:E3642D;ENSP00000356462:E3642D	ENSP00000271588:E3642D	E	+	3	2	HMCN1	184344289	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.417000	0.34770	1.143000	0.42306	0.533000	0.62120	GAA		0.423	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935		3	139	0	0	0	0.115264	0	3	139					C	186077666	A	C	186077666	3	2	27	1	0	0	0	0	1	0	0	0	7220	98	4	5	11208	5	HMCN1	1	186077666	Missense_Mutation	SNP	A	TCGA-CH-5761-01A-11D-1576-08	39346133	186077666	63172955	5	1253											
CFH	3075	broad.mit.edu	37	chr1	196658588	196658588	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cagacattaaacatggaggtCtatatcatgagaatatgcgt	15	11	9	6	1	2	2	1	1	1	2	2	4	2	3	0	2	2	0	0	2	6	4			TCGA-CH-5761-01A-11D-1576-08	TCGA-CH-5761-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb9b1203-fc4a-40c9-867a-436a54c61cf3	b8efa698-2592-447e-b038-3b4da4ebf6de	g.chr1:196658588C>G	ENST00000359637.2	+	7	873	c.811C>G	c.(811-813)Cta>Gta	p.L271V	CFH_ENST00000439155.2_Missense_Mutation_p.L335V|CFH_ENST00000367429.4_Missense_Mutation_p.L335V			P08603	CFAH_HUMAN	complement factor H	335	Sushi 5. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	heparan sulfate proteoglycan binding (GO:0043395)|heparin binding (GO:0008201)	p.L335V(1)		NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						ACATGGAGGTCTATATCATGA	0.308																																						ENST00000367429.4																			1	Substitution - Missense(1)	p.L335V(1)	prostate(1)	NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						c.(1003-1005)Cta>Gta		complement factor H							85	80	82					1																	196658588		2203	4300	6503	SO:0001583	missense	3075				complement activation, alternative pathway	extracellular space		g.chr1:196658588C>G	Y00716	CCDS1385.1	1q32	2014-09-17	2004-08-09	2004-08-12	ENSG00000000971	ENSG00000000971		"Complement system"	4883	protein-coding gene	gene with protein product	"beta-1H", "H factor 2 (complement)", "age-related maculopathy susceptibility 1"	134370	"H factor 1 (complement)"	HF, HF1, HF2		2889480, 2963625	Standard	NM_000186		Approved	HUS, FHL1, ARMS1, ARMD4	uc001gtj.4	P08603	OTTHUMG00000035607	ENST00000359637.2:c.811C>G	1.37:g.196658588C>G	ENSP00000352658:p.Leu271Val					CFH_ENST00000439155.2_Missense_Mutation_p.L335V|CFH_ENST00000359637.2_Missense_Mutation_p.L271V	p.L335V	NM_000186.3	NP_000177.2	P08603	CFAH_HUMAN			8	1243	+			335			Sushi 6.		A5PL14|P78435|Q14570|Q2TAZ5|Q38G77|Q5TFM3|Q8N708|Q9NU86	Missense_Mutation	SNP	ENST00000359637.2	37	c.1003C>G		.	.	.	.	.	.	.	.	.	.	C	14.05	2.420965	0.42918	.	.	ENSG00000000971	ENST00000367429;ENST00000439155;ENST00000391986;ENST00000359637	T;T;T	0.63580	-0.05;-0.05;-0.05	5.61	2.54	0.30619	Complement control module (2);Sushi/SCR/CCP (2);	.	.	.	.	T	0.73361	0.3577	M	0.82923	2.615	0.09310	N	1	P;D;P	0.76494	0.919;0.999;0.946	P;D;P	0.70716	0.703;0.97;0.823	T	0.61705	-0.7008	9	0.12103	T	0.63	.	6.2788	0.20995	0.3272:0.5875:0.0:0.0853	.	271;335;335	Q5TFM2;P08603;F8WDX4	.;CFAH_HUMAN;.	V	335;335;335;271	ENSP00000356399:L335V;ENSP00000402656:L335V;ENSP00000352658:L271V	ENSP00000352658:L271V	L	+	1	2	CFH	194925211	0.000000	0.05858	0.009000	0.14445	0.003000	0.03518	-0.401000	0.07232	0.851000	0.35264	0.655000	0.94253	CTA		0.308	CFH-002	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000087502.1	NM_000186		9	150	0	0	0	0.335167	0	9	150					G	196658588	C	G	196658588	3	3	27	1	0	0	0	0	1	0	0	0	3283	912	32	5	1033	5	CFH	1	196658588	Missense_Mutation	SNP	C	TCGA-CH-5761-01A-11D-1576-08	10580922	196658588	52592033	6	1254											
C1orf116	79098	broad.mit.edu	37	chr1	207195634	207195634	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tctcagttgaaaggtagctgCtcagtcccacgcctgagcgc	8	9	11	13	2	2	2	2	2	1	0	4	2	3	2	2	1	3	4	2	1	2	2			TCGA-CH-5761-01A-11D-1576-08	TCGA-CH-5761-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb9b1203-fc4a-40c9-867a-436a54c61cf3	b8efa698-2592-447e-b038-3b4da4ebf6de	g.chr1:207195634C>A	ENST00000359470.5	-	4	1724	c.1475G>T	c.(1474-1476)aGc>aTc	p.S492I	C1orf116_ENST00000461135.2_Missense_Mutation_p.S246I	NM_023938.5	NP_076427.2	Q9BW04	SARG_HUMAN	chromosome 1 open reading frame 116	492						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)		p.S492T(1)|p.S492I(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(4)|stomach(1)	29	Prostate(682;0.19)					AAGGTAGCTGCTCAGTCCCAC	0.542																																						ENST00000359470.5																			2	Substitution - Missense(2)	p.S492T(1)|p.S492I(1)	prostate(1)|lung(1)	autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(4)|stomach(1)	29						c.(1474-1476)aGc>aTc		chromosome 1 open reading frame 116							41	42	41					1																	207195634		2203	4300	6503	SO:0001583	missense	79098					cytoplasm|plasma membrane	receptor activity	g.chr1:207195634C>A		CCDS1475.1, CCDS44306.1	1q32.1	2012-06-26			ENSG00000182795	ENSG00000182795			28667	protein-coding gene	gene with protein product	"specifically androgen-regulated gene"	611680				15525603, 9389513	Standard	NM_023938		Approved	SARG, FLJ36507, MGC2742, MGC4309	uc001hfd.2	Q9BW04	OTTHUMG00000036580	ENST00000359470.5:c.1475G>T	1.37:g.207195634C>A	ENSP00000352447:p.Ser492Ile					C1orf116_ENST00000461135.2_Missense_Mutation_p.S246I	p.S492I	NM_023938.5	NP_076427.2	Q9BW04	SARG_HUMAN			4	1724	-	Prostate(682;0.19)		492					C9JV41|Q658X3	Missense_Mutation	SNP	ENST00000359470.5	37	c.1475G>T	CCDS1475.1	.	.	.	.	.	.	.	.	.	.	C	23.1	4.379999	0.82682	.	.	ENSG00000182795	ENST00000359470;ENST00000461135	T;T	0.15603	2.41;2.41	5.7	5.7	0.88788	.	0.229481	0.50627	D	0.000110	T	0.40956	0.1138	M	0.61703	1.905	0.49582	D	0.999806	D	0.76494	0.999	D	0.66979	0.948	T	0.10497	-1.0627	10	0.72032	D	0.01	-11.1594	18.8353	0.92159	0.0:1.0:0.0:0.0	.	492	Q9BW04	SARG_HUMAN	I	492;246	ENSP00000352447:S492I;ENSP00000436862:S246I	ENSP00000352447:S492I	S	-	2	0	C1orf116	205262257	1.000000	0.71417	1.000000	0.80357	0.720000	0.41350	4.673000	0.61604	2.688000	0.91661	0.655000	0.94253	AGC		0.542	C1orf116-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088973.1	NM_024115		3	41	1	0	0.115264	0.115264	0.125287	3	41					A	207195634	C	A	207195634	3	1	27	1	0	0	0	0	1	0	0	0	1989	797	28	5	334	5	C1orf116	1	207195634	Missense_Mutation	SNP	C	TCGA-CH-5761-01A-11D-1576-08	10537046	207195634	42054987	7	1255											
CR1L	1379	broad.mit.edu	37	chr1	207867727	207867727	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgggctaccccccaccatcGccaatggagatttcactagc	9	8	9	15	1	1	1	1	0	0	1	2	2	1	1	5	2	2	1	5	2	3	3	rs371954344		TCGA-CH-5761-01A-11D-1576-08	TCGA-CH-5761-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb9b1203-fc4a-40c9-867a-436a54c61cf3	b8efa698-2592-447e-b038-3b4da4ebf6de	g.chr1:207867727G>A	ENST00000508064.2	+	5	553	c.493G>A	c.(493-495)Gcc>Acc	p.A165T	CR1L_ENST00000530905.1_Intron	NM_175710.1	NP_783641.1	Q2VPA4	CR1L_HUMAN	complement component (3b/4b) receptor 1-like	165	Sushi 3. {ECO:0000255|PROSITE- ProRule:PRU00302}.					cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)|receptor complex (GO:0043235)				endometrium(1)|kidney(1)|large_intestine(2)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						CCCCACCATCGCCAATGGAGA	0.423																																						ENST00000508064.2																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						c.(493-495)Gcc>Acc		complement component (3b/4b) receptor 1-like		G	THR/ALA	1,3779		0,1,1889	86	81	83		493	-0.3	0.3	1		83	0,8228		0,0,4114	no	missense	CR1L	NM_175710.1	58	0,1,6003	AA,AG,GG		0.0,0.0265,0.0083	possibly-damaging	165/570	207867727	1,12007	1890	4114	6004	SO:0001583	missense	1379					cytoplasm|extracellular region|membrane		g.chr1:207867727G>A	AY114160	CCDS44310.1	1q32.1	2008-02-05			ENSG00000197721	ENSG00000197721		"Complement system"	2335	protein-coding gene	gene with protein product		605886				2295627	Standard	NM_175710		Approved		uc001hga.4	Q2VPA4	OTTHUMG00000036354	ENST00000508064.2:c.493G>A	1.37:g.207867727G>A	ENSP00000421736:p.Ala165Thr					CR1L_ENST00000530905.1_Intron	p.A165T	NM_175710.1	NP_783641.1	Q2VPA4	CR1L_HUMAN			5	553	+			165			Sushi 3.		Q32MC9|Q8NEU7	Missense_Mutation	SNP	ENST00000508064.2	37	c.493G>A	CCDS44310.1	.	.	.	.	.	.	.	.	.	.	G	5.760	0.324594	0.10900	2.65E-4	0.0	ENSG00000197721	ENST00000444269;ENST00000508064	T	0.64438	-0.1	1.86	-0.317	0.12736	Complement control module (2);Sushi/SCR/CCP (3);	.	.	.	.	T	0.34600	0.0903	N	0.21240	0.645	0.21220	N	0.999757	P	0.36712	0.566	B	0.29942	0.109	T	0.16305	-1.0407	9	0.13108	T	0.6	.	3.025	0.06087	0.2017:0.313:0.4853:0.0	.	165	Q2VPA4	CR1L_HUMAN	T	165	ENSP00000421736:A165T	ENSP00000434864:A109T	A	+	1	0	CR1L	205934350	0.000000	0.05858	0.333000	0.25482	0.418000	0.31294	-1.218000	0.02976	-0.080000	0.12685	0.305000	0.20034	GCC		0.423	CR1L-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390247.1	XM_114735		5	141	0	0	0	0.184627	0	5	141					A	207867727	G	A	207867727	3	1	27	1	0	0	0	0	1	0	0	0	3841	1087	38	1	511	1	CR1L	1	207867727	Missense_Mutation	SNP	G	TCGA-CH-5761-01A-11D-1576-08	672093	207867727	41382894	8	1256											
TARBP1	6894	broad.mit.edu	37	chr1	234556448	234556448	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atataataaaaatatgatacCtggtcaagtctagggaaaag	19	10	8	4	0	2	1	1	1	1	0	2	2	2	2	1	2	1	0	1	2	11	6			TCGA-CH-5761-01A-11D-1576-08	TCGA-CH-5761-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb9b1203-fc4a-40c9-867a-436a54c61cf3	b8efa698-2592-447e-b038-3b4da4ebf6de	g.chr1:234556448C>T	ENST00000040877.1	-	21	3554	c.3555G>A	c.(3553-3555)caG>caA	p.Q1185Q		NM_005646.3	NP_005637.3	Q13395	TARB1_HUMAN	TAR (HIV-1) RNA binding protein 1	1185					regulation of transcription from RNA polymerase II promoter (GO:0006357)|RNA processing (GO:0006396)	nucleus (GO:0005634)	RNA binding (GO:0003723)|RNA methyltransferase activity (GO:0008173)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(7)|large_intestine(6)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	55	Ovarian(103;0.0339)	all_cancers(173;0.00995)|Prostate(94;0.0115)|all_epithelial(177;0.172)	OV - Ovarian serous cystadenocarcinoma(106;0.000263)			AATATGATACCTGGTCAAGTC	0.338																																						ENST00000040877.1																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(7)|large_intestine(6)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	55						c.e21+1		TAR (HIV-1) RNA binding protein 1							83	90	87					1																	234556448		2203	4300	6503	SO:0001630	splice_region_variant	6894				regulation of transcription from RNA polymerase II promoter|RNA processing	nucleus	RNA binding|RNA methyltransferase activity	g.chr1:234556448C>T		CCDS1601.1	1q42.2	2012-06-12	2007-06-26		ENSG00000059588	ENSG00000059588			11568	protein-coding gene	gene with protein product	"tRNA methyltransferase 3 homolog (S. cerevisiae)"	605052	"Tar (HIV-1) RNA binding protein 1"			1936997	Standard	NM_005646		Approved	TRP-185, TRM3	uc001hwd.3	Q13395	OTTHUMG00000037947	ENST00000040877.1:c.3555+1G>A	1.37:g.234556448C>T							p.Q1185_splice	NM_005646.3	NP_005637.3	Q13395	TARB1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.000263)		21	3554	-	Ovarian(103;0.0339)	all_cancers(173;0.00995)|Prostate(94;0.0115)|all_epithelial(177;0.172)	1185					Q9H581	Splice_Site	SNP	ENST00000040877.1	37	c.3555_splice	CCDS1601.1																																																																																				0.338	TARBP1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092616.1	NM_005646	Silent	49	96	0	0	0	0.870114	0	49	96					T	234556448	C	T	234556448	5	4	27	1	0	0	0	0	0	0	1	0	15552	695	24	3	1350	3	TARBP1	1	234556448	Splice_Site	SNP	C	TCGA-CH-5761-01A-11D-1576-08	26688721	234556448	14694173	9	1257											
PDIA6	10130	broad.mit.edu	37	chr2	10933278	10933278	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaggcgatccttcacgagctGgcgcagagcactcagcgcag	9	5	14	13	4	2	1	2	0	0	1	3	4	3	1	1	2	3	4	1	2	0	1			TCGA-CH-5761-01A-11D-1576-08	TCGA-CH-5761-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb9b1203-fc4a-40c9-867a-436a54c61cf3	b8efa698-2592-447e-b038-3b4da4ebf6de	g.chr2:10933278G>C	ENST00000272227.3	-	5	544	c.397C>G	c.(397-399)Cag>Gag	p.Q133E	PDIA6_ENST00000404824.2_Missense_Mutation_p.Q181E|PDIA6_ENST00000381611.4_Missense_Mutation_p.Q138E|PDIA6_ENST00000404371.2_Missense_Mutation_p.Q185E|PDIA6_ENST00000540494.1_Missense_Mutation_p.Q130E	NM_001282707.1|NM_005742.2	NP_001269636.1|NP_005733.1	Q15084	PDIA6_HUMAN	protein disulfide isomerase family A, member 6	133	Thioredoxin 1. {ECO:0000255|PROSITE- ProRule:PRU00691}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|apoptotic cell clearance (GO:0043277)|cell redox homeostasis (GO:0045454)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|protein folding (GO:0006457)|response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	protein disulfide isomerase activity (GO:0003756)	p.Q133E(1)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|prostate(2)	18	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.149)|OV - Ovarian serous cystadenocarcinoma(76;0.15)		TTCACGAGCTGGCGCAGAGCA	0.522																																					GBM(73;509 1219 34219 41343 41551)	ENST00000404371.2																			1	Substitution - Missense(1)	p.Q133E(1)	prostate(1)	central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|prostate(2)	18						c.(553-555)Cag>Gag		protein disulfide isomerase family A, member 6							92	82	86					2																	10933278		2203	4300	6503	SO:0001583	missense	10130				cell redox homeostasis|glycerol ether metabolic process|protein folding	endoplasmic reticulum lumen|ER-Golgi intermediate compartment|melanosome|plasma membrane	electron carrier activity|protein binding|protein disulfide isomerase activity|protein disulfide oxidoreductase activity	g.chr2:10933278G>C	BC001312	CCDS1675.1, CCDS62852.1, CCDS62853.1, CCDS62854.1, CCDS62855.1	2p25.1	2009-11-20	2005-06-29	2005-03-03	ENSG00000143870	ENSG00000143870	5.3.4.1	"Protein disulfide isomerases"	30168	protein-coding gene	gene with protein product	"protein disulfide isomerase-related protein"	611099	"thioredoxin domain containing 7 (protein disulfide isomerase)", "protein disulfide isomerase-associated 6"	TXNDC7		7590364, 12204115	Standard	XM_005246145		Approved	P5, ERp5	uc002rau.3	Q15084	OTTHUMG00000090479	ENST00000272227.3:c.397C>G	2.37:g.10933278G>C	ENSP00000272227:p.Gln133Glu					PDIA6_ENST00000540494.1_Missense_Mutation_p.Q130E|PDIA6_ENST00000381611.4_Missense_Mutation_p.Q138E|PDIA6_ENST00000404824.2_Missense_Mutation_p.Q181E|PDIA6_ENST00000272227.3_Missense_Mutation_p.Q133E	p.Q185E			Q15084	PDIA6_HUMAN		Epithelial(75;0.149)|OV - Ovarian serous cystadenocarcinoma(76;0.15)	7	890	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)		133			Thioredoxin 2.		B3KY95|B5MCQ5|B7Z254|B7Z4M8|F8WA83|Q53RC7|Q6ZSH5|Q99778	Missense_Mutation	SNP	ENST00000272227.3	37	c.553C>G	CCDS1675.1	.	.	.	.	.	.	.	.	.	.	G	7.479	0.648347	0.14516	.	.	ENSG00000143870	ENST00000272227;ENST00000404371;ENST00000404824;ENST00000540494;ENST00000381611	T;T;T;T;T	0.04234	3.69;3.67;3.68;3.69;3.69	5.91	5.91	0.95273	Thioredoxin-like fold (2);	0.290535	0.37219	N	0.002192	T	0.01558	0.0050	N	0.01048	-1.04	0.33388	D	0.575761	B;B;B;B	0.19073	0.0;0.001;0.001;0.033	B;B;B;B	0.14023	0.001;0.01;0.004;0.009	T	0.42548	-0.9445	10	0.18710	T	0.47	.	5.1268	0.14888	0.1721:0.0:0.6552:0.1727	.	130;181;185;133	B7Z254;B5MCQ5;Q15084-2;Q15084	.;.;.;PDIA6_HUMAN	E	133;185;181;130;138	ENSP00000272227:Q133E;ENSP00000385385:Q185E;ENSP00000384459:Q181E;ENSP00000438778:Q130E;ENSP00000371024:Q138E	ENSP00000272227:Q133E	Q	-	1	0	PDIA6	10850729	1.000000	0.71417	0.999000	0.59377	0.017000	0.09413	4.409000	0.59768	2.793000	0.96121	0.655000	0.94253	CAG		0.522	PDIA6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000206933.1	NM_005742		18	68	0	0	0	0.557998	0	18	68					C	10933278	G	C	10933278	3	2	27	1	0	0	0	0	1	0	0	0	11672	1357	47	5	961	5	PDIA6	2	10933278	Missense_Mutation	SNP	G	TCGA-CH-5761-01A-11D-1576-08		10933278	232266095	10	1258											
RNF149	284996	broad.mit.edu	37	chr2	101924707	101924707	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttgaaggtgcagcccccaCgagccaccagggcgacccag	9	3	12	17	2	0	1	0	1	0	0	0	3	0	1	6	2	3	1	6	2	1	1			TCGA-CH-5761-01A-11D-1576-08	TCGA-CH-5761-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb9b1203-fc4a-40c9-867a-436a54c61cf3	b8efa698-2592-447e-b038-3b4da4ebf6de	g.chr2:101924707C>T	ENST00000295317.3	-	1	451	c.344G>A	c.(343-345)cGt>cAt	p.R115H	MIR5696_ENST00000578474.1_RNA	NM_173647.3	NP_775918.2	Q8NC42	RN149_HUMAN	ring finger protein 149	115	PA.				cellular response to drug (GO:0035690)|negative regulation of MAPK cascade (GO:0043409)|regulation of protein stability (GO:0031647)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.R115H(2)		breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	12						GCAGCCCCCACGAGCCACCAG	0.726																																					Colon(25;331 612 6521 7355 31028)	ENST00000295317.3																			2	Substitution - Missense(2)	p.R115H(2)	prostate(2)	breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	12						c.(343-345)cGt>cAt		ring finger protein 149							7	8	8					2																	101924707		2132	4179	6311	SO:0001583	missense	284996					integral to membrane	ligase activity|zinc ion binding	g.chr2:101924707C>T	AK074985	CCDS2051.1	2q12.1	2013-01-09			ENSG00000163162	ENSG00000163162		"RING-type (C3HC4) zinc fingers"	23137	protein-coding gene	gene with protein product							Standard	NM_173647		Approved	FLJ90504	uc002taz.2	Q8NC42	OTTHUMG00000130685	ENST00000295317.3:c.344G>A	2.37:g.101924707C>T	ENSP00000295317:p.Arg115His						p.R115H	NM_173647.3	NP_775918.2	Q8NC42	RN149_HUMAN			1	451	-			115			PA.		Q53S14|Q8N5I8|Q8NBY5|Q8WUU3	Missense_Mutation	SNP	ENST00000295317.3	37	c.344G>A	CCDS2051.1	.	.	.	.	.	.	.	.	.	.	C	18.05	3.536432	0.65085	.	.	ENSG00000163162	ENST00000295317	T	0.12147	2.71	4.52	2.71	0.32032	Protease-associated domain, PA (1);	0.156339	0.31963	N	0.006792	T	0.25827	0.0629	H	0.97291	3.975	0.48632	D	0.999689	P	0.35411	0.5	B	0.24974	0.057	T	0.15263	-1.0443	10	0.66056	D	0.02	.	8.8667	0.35291	0.0:0.753:0.0:0.247	.	115	Q8NC42	RN149_HUMAN	H	115	ENSP00000295317:R115H	ENSP00000295317:R115H	R	-	2	0	RNF149	101291139	0.991000	0.36638	0.942000	0.38095	0.914000	0.54420	1.584000	0.36589	0.344000	0.23847	0.313000	0.20887	CGT		0.726	RNF149-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253180.2	NM_173647		4	5	0	0	0	0.150653	0	4	5					T	101924707	C	T	101924707	3	4	27	1	0	0	0	0	1	0	0	0	13450	536	19	1	886	1	RNF149	2	101924707	Missense_Mutation	SNP	C	TCGA-CH-5761-01A-11D-1576-08	90991429	101924707	141274666	11	1259											
RAB3GAP1	22930	broad.mit.edu	37	chr2	135922225	135922225	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccggtgcaggaagaggacatGctggcaggatcattcacaag	12	6	14	9	1	2	1	2	0	0	1	2	4	2	4	1	5	2	3	1	5	2	1			TCGA-CH-5761-01A-11D-1576-08	TCGA-CH-5761-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb9b1203-fc4a-40c9-867a-436a54c61cf3	b8efa698-2592-447e-b038-3b4da4ebf6de	g.chr2:135922225G>A	ENST00000264158.8	+	23	2711	c.2668G>A	c.(2668-2670)Gct>Act	p.A890T	RAB3GAP1_ENST00000487003.1_3'UTR|RAB3GAP1_ENST00000539493.1_Missense_Mutation_p.A846T|RAB3GAP1_ENST00000442034.1_Missense_Mutation_p.A890T|ZRANB3_ENST00000412849.1_Intron	NM_012233.2	NP_036365.1	Q15042	RB3GP_HUMAN	RAB3 GTPase activating protein subunit 1 (catalytic)	890					brain development (GO:0007420)|camera-type eye development (GO:0043010)|establishment of protein localization to endoplasmic reticulum membrane (GO:0097051)|face morphogenesis (GO:0060325)|hypothalamus development (GO:0021854)|lipid particle organization (GO:0034389)|positive regulation of endoplasmic reticulum tubular network organization (GO:1903373)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of Rab GTPase activity (GO:0032851)|regulation of calcium ion-dependent exocytosis of neurotransmitter (GO:1903233)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of GTPase activity (GO:0043087)|regulation of short-term neuronal synaptic plasticity (GO:0048172)	cytoplasm (GO:0005737)|endoplasmic reticulum tubular network (GO:0071782)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)	Rab GTPase activator activity (GO:0005097)|Rab GTPase binding (GO:0017137)	p.A890T(1)		breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(10)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	32				BRCA - Breast invasive adenocarcinoma(221;0.117)		AAGAGGACATGCTGGCAGGAT	0.488																																						ENST00000264158.8																			1	Substitution - Missense(1)	p.A890T(1)	prostate(1)	breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(10)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	32						c.(2668-2670)Gct>Act		RAB3 GTPase activating protein subunit 1 (catalytic)							122	102	109					2																	135922225		2203	4300	6503	SO:0001583	missense	22930					centrosome|nucleus|soluble fraction	Rab GTPase activator activity|Rab GTPase binding	g.chr2:135922225G>A	D31886	CCDS33294.1, CCDS54402.1	2q21.3	2013-07-09			ENSG00000115839	ENSG00000115839			17063	protein-coding gene	gene with protein product		602536				9030515, 15696165	Standard	NM_012233		Approved	RAB3GAP, KIAA0066, RAB3GAP130, WARBM1	uc010fnf.3	Q15042	OTTHUMG00000154889	ENST00000264158.8:c.2668G>A	2.37:g.135922225G>A	ENSP00000264158:p.Ala890Thr					RAB3GAP1_ENST00000539493.1_Missense_Mutation_p.A846T|ZRANB3_ENST00000412849.1_Intron|RAB3GAP1_ENST00000487003.1_3'UTR|RAB3GAP1_ENST00000442034.1_Missense_Mutation_p.A890T	p.A890T	NM_012233.2	NP_036365.1	Q15042	RB3GP_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.117)	23	2711	+			890					A6H8Z3|C9J837|Q659F5|Q8TBB4	Missense_Mutation	SNP	ENST00000264158.8	37	c.2668G>A	CCDS33294.1	.	.	.	.	.	.	.	.	.	.	G	29.1	4.981613	0.93044	.	.	ENSG00000115839	ENST00000264158;ENST00000539493;ENST00000442034	T;T;T	0.48522	0.82;0.81;0.82	4.97	4.97	0.65823	.	0.105878	0.64402	D	0.000005	T	0.53658	0.1810	L	0.56769	1.78	0.80722	D	1	P;P	0.47762	0.9;0.877	P;P	0.48400	0.576;0.494	T	0.48305	-0.9047	10	0.25106	T	0.35	-17.4122	18.4144	0.90563	0.0:0.0:1.0:0.0	.	890;890	C9J837;Q15042	.;RB3GP_HUMAN	T	890;846;890	ENSP00000264158:A890T;ENSP00000444306:A846T;ENSP00000411418:A890T	ENSP00000264158:A890T	A	+	1	0	RAB3GAP1	135638695	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.948000	0.75965	2.586000	0.87340	0.591000	0.81541	GCT		0.488	RAB3GAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337514.2	NM_012233		20	44	0	0	0	0.667858	0	20	44					A	135922225	G	A	135922225	3	1	27	1	0	0	0	0	1	0	0	0	12935	1319	46	3	2758	3	RAB3GAP1	2	135922225	Missense_Mutation	SNP	G	TCGA-CH-5761-01A-11D-1576-08	33997518	135922225	107277148	12	1260											
FMNL2	114793	broad.mit.edu	37	chr2	153475624	153475624	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ccgcttcctcaggacccttgCcccctcctccaccaccactg	5	8	5	23	1	1	0	1	0	0	0	4	1	4	1	9	1	1	1	9	1	0	2			TCGA-CH-5761-01A-11D-1576-08	TCGA-CH-5761-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb9b1203-fc4a-40c9-867a-436a54c61cf3	b8efa698-2592-447e-b038-3b4da4ebf6de	g.chr2:153475624C>T	ENST00000288670.9	+	14	1946	c.1579C>T	c.(1579-1581)Ccc>Tcc	p.P527S	FMNL2_ENST00000475377.2_5'Flank	NM_052905.3	NP_443137.2	Q96PY5	FMNL2_HUMAN	formin-like 2	527	Pro-rich.				cortical actin cytoskeleton organization (GO:0030866)|cytoskeleton organization (GO:0007010)|regulation of cell morphogenesis (GO:0022604)	cytoplasm (GO:0005737)		p.P527S(1)		central_nervous_system(2)|endometrium(3)|large_intestine(5)|liver(2)|lung(3)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	23						AGGACCCTTGCCCCCTCCTCC	0.542																																						ENST00000288670.9																			1	Substitution - Missense(1)	p.P527S(1)	prostate(1)	central_nervous_system(2)|endometrium(3)|large_intestine(5)|liver(2)|lung(3)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	23						c.(1579-1581)Ccc>Tcc		formin-like 2							45	48	47					2																	153475624		1965	4143	6108	SO:0001583	missense	114793				actin cytoskeleton organization	cytoplasm	actin binding|Rho GTPase binding	g.chr2:153475624C>T	AB067489	CCDS46429.1	2q23.3	2008-02-05	2003-12-02	2003-12-03	ENSG00000157827	ENSG00000157827			18267	protein-coding gene	gene with protein product			"formin homology 2 domain containing 2"	FHOD2			Standard	XM_005246263		Approved	KIAA1902	uc002tye.3	Q96PY5	OTTHUMG00000154035	ENST00000288670.9:c.1579C>T	2.37:g.153475624C>T	ENSP00000288670:p.Pro527Ser						p.P527S	NM_052905.3	NP_443137.2	Q96PY5	FMNL2_HUMAN			14	1946	+			527			Pro-rich.		B2RZH5|Q14CC9|Q4ZG52|Q8N3E0	Missense_Mutation	SNP	ENST00000288670.9	37	c.1579C>T	CCDS46429.1	.	.	.	.	.	.	.	.	.	.	C	11.24	1.580324	0.28180	.	.	ENSG00000157827	ENST00000288670;ENST00000421344	T	0.81330	-1.48	5.57	2.74	0.32292	.	0.554675	0.21497	N	0.073582	T	0.65831	0.2729	L	0.27053	0.805	0.80722	D	1	B	0.22683	0.073	B	0.21917	0.037	T	0.52689	-0.8542	10	0.07644	T	0.81	.	11.9094	0.52731	0.1257:0.6192:0.2551:0.0	.	527	Q96PY5-3	.	S	527;24	ENSP00000288670:P527S	ENSP00000288670:P527S	P	+	1	0	FMNL2	153183870	0.997000	0.39634	0.132000	0.22025	0.183000	0.23260	1.813000	0.38962	0.279000	0.22186	-0.885000	0.02943	CCC		0.542	FMNL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333582.2	NM_052905		22	43	0	0	0	0.639603	0	22	43					T	153475624	C	T	153475624	3	4	27	1	0	0	0	0	1	0	0	0	5952	739	26	3	1633	3	FMNL2	2	153475624	Missense_Mutation	SNP	C	TCGA-CH-5761-01A-11D-1576-08	17553399	153475624	89723749	13	1261											
ERBB4	2066	broad.mit.edu	37	chr2	212251657	212251657	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gggctccgttctggggcaaaCacggtggggtcagcactgta	7	8	16	10	2	2	0	1	0	1	0	3	0	3	0	1	6	2	5	1	6	2	2			TCGA-CH-5761-01A-11D-1576-08	TCGA-CH-5761-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb9b1203-fc4a-40c9-867a-436a54c61cf3	b8efa698-2592-447e-b038-3b4da4ebf6de	g.chr2:212251657C>A	ENST00000342788.4	-	27	3712	c.3402G>T	c.(3400-3402)gtG>gtT	p.V1134V	ERBB4_ENST00000436443.1_Silent_p.V1118V|ERBB4_ENST00000402597.1_Silent_p.V1124V	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	1134					cardiac muscle tissue regeneration (GO:0061026)|cell fate commitment (GO:0045165)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system morphogenesis (GO:0021551)|embryonic pattern specification (GO:0009880)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|lactation (GO:0007595)|mammary gland alveolus development (GO:0060749)|mammary gland epithelial cell differentiation (GO:0060644)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|neurotrophin TRK receptor signaling pathway (GO:0048011)|olfactory bulb interneuron differentiation (GO:0021889)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of STAT protein import into nucleus (GO:2000366)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|regulation of cell migration (GO:0030334)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	basolateral plasma membrane (GO:0016323)|cytosol (GO:0005829)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|epidermal growth factor receptor binding (GO:0005154)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transcription regulatory region DNA binding (GO:0044212)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.V1134V(1)		NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)	Afatinib(DB08916)	CTGGGGCAAACACGGTGGGGT	0.522										TSP Lung(8;0.080)																												ENST00000342788.4																			1	Substitution - coding silent(1)	p.V1134V(1)	prostate(1)	NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179						c.(3400-3402)gtG>gtT		v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4							156	140	145					2																	212251657		2203	4300	6503	SO:0001819	synonymous_variant	2066				cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity	g.chr2:212251657C>A	L07868	CCDS2394.1, CCDS42811.1	2q33.3-q34	2013-10-11	2013-07-09		ENSG00000178568	ENSG00000178568			3432	protein-coding gene	gene with protein product		600543	"v-erb-a avian erythroblastic leukemia viral oncogene homolog-like 4"			7700649, 17018285	Standard	NM_001042599		Approved	ALS19	uc002veg.1	Q15303	OTTHUMG00000133012	ENST00000342788.4:c.3402G>T	2.37:g.212251657C>A		TSP Lung(8;0.080)				ERBB4_ENST00000402597.1_Silent_p.V1124V|ERBB4_ENST00000436443.1_Silent_p.V1118V	p.V1134V	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)	27	3712	-		Renal(323;0.06)|Lung NSC(271;0.197)	1134					B7ZLD7|B7ZLE2|B7ZLE3|Q2M1W1|Q59EW4	Silent	SNP	ENST00000342788.4	37	c.3402G>T	CCDS2394.1																																																																																				0.522	ERBB4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256597.1	NM_001042599		54	124	1	0	1.93748e-29	0.870114	2.45251e-29	54	124					A	212251657	C	A	212251657	2	1	27	1	0	0	0	0	0	0	0	1	5209	465	17	5		5	ERBB4	2	212251657	Silent	SNP	C	TCGA-CH-5761-01A-11D-1576-08	58776033	212251657	30947716	14	1262											
RHBDD1	84236	broad.mit.edu	37	chr2	227729679	227729679	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	aatatggcatccatgctctgGaaaggaataaatctagaaag	17	9	9	6	0	2	1	0	0	2	1	3	3	3	3	1	3	1	2	1	3	8	3			TCGA-CH-5761-01A-11D-1576-08	TCGA-CH-5761-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb9b1203-fc4a-40c9-867a-436a54c61cf3	b8efa698-2592-447e-b038-3b4da4ebf6de	g.chr2:227729679G>A	ENST00000341329.3	+	2	512	c.270G>A	c.(268-270)tgG>tgA	p.W90*	RHBDD1_ENST00000392062.2_Nonsense_Mutation_p.W90*	NM_032276.3	NP_115652.2	Q8TEB9	RHBL4_HUMAN	rhomboid domain containing 1	90					apoptotic process (GO:0006915)|cellular response to unfolded protein (GO:0034620)|cellular response to UV (GO:0034644)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|membrane protein intracellular domain proteolysis (GO:0031293)|membrane protein proteolysis (GO:0033619)|negative regulation of apoptotic process (GO:0043066)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein processing (GO:0010954)|positive regulation of secretion (GO:0051047)|post-translational protein modification (GO:0043687)|spermatid differentiation (GO:0048515)	endoplasmic reticulum membrane (GO:0005789)|endoplasmic reticulum quality control compartment (GO:0044322)|integral component of endoplasmic reticulum membrane (GO:0030176)|mitochondrion (GO:0005739)	endopeptidase activity (GO:0004175)|serine-type endopeptidase activity (GO:0004252)	p.W90*(1)		breast(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19		Renal(207;0.023)|all_lung(227;0.13)|Esophageal squamous(248;0.23)|all_hematologic(139;0.248)		Epithelial(121;1.47e-11)|all cancers(144;1.52e-08)|Lung(261;0.0128)|LUSC - Lung squamous cell carcinoma(224;0.0175)		CCATGCTCTGGAAAGGAATAA	0.423																																						ENST00000392062.2																			1	Substitution - Nonsense(1)	p.W90*(1)	prostate(1)	breast(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19						c.(268-270)tgG>tgA		rhomboid domain containing 1							171	164	166					2																	227729679		2203	4300	6503	SO:0001587	stop_gained	84236					integral to membrane	serine-type endopeptidase activity	g.chr2:227729679G>A	AK074258	CCDS2464.1	2q36.3	2012-07-09			ENSG00000144468	ENSG00000144468			23081	protein-coding gene	gene with protein product						12838346	Standard	NM_032276		Approved	DKFZp547E052	uc002voi.3	Q8TEB9	OTTHUMG00000133178	ENST00000341329.3:c.270G>A	2.37:g.227729679G>A	ENSP00000344779:p.Trp90*					RHBDD1_ENST00000341329.3_Nonsense_Mutation_p.W90*	p.W90*	NM_001167608.1	NP_001161080.1	Q8TEB9	RHBD1_HUMAN		Epithelial(121;1.47e-11)|all cancers(144;1.52e-08)|Lung(261;0.0128)|LUSC - Lung squamous cell carcinoma(224;0.0175)	4	794	+		Renal(207;0.023)|all_lung(227;0.13)|Esophageal squamous(248;0.23)|all_hematologic(139;0.248)	90					Q495B9|Q53S43|Q5EBM8|Q6P5V8|Q8IV60|Q9H057	Nonsense_Mutation	SNP	ENST00000341329.3	37	c.270G>A	CCDS2464.1	.	.	.	.	.	.	.	.	.	.	G	24.6	4.545264	0.86022	.	.	ENSG00000144468	ENST00000424132;ENST00000341329;ENST00000392062;ENST00000423616;ENST00000448992	.	.	.	6.04	5.15	0.70609	.	0.103999	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-5.4665	16.6284	0.84993	0.0:0.0:0.869:0.131	.	.	.	.	X	90	.	ENSP00000344779:W90X	W	+	3	0	RHBDD1	227437923	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.606000	0.82863	1.524000	0.49035	0.563000	0.77884	TGG		0.423	RHBDD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256885.2			7	329	0	0	0	0.27861	0	7	329					A	227729679	G	A	227729679	4	1	27	1	0	0	0	0	0	1	0	0	13316	1183	41	3	272	3	RHBDD1	2	227729679	Nonsense_Mutation	SNP	G	TCGA-CH-5761-01A-11D-1576-08	15478022	227729679	15469694	15	1263			1	3		2	2	24	G		5.646431e-05
RHBDD1	84236	broad.mit.edu	37	chr2	227729702	227729702	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aggaataaatctagaaagaaGactgggaagtagatggtttg	17	9	13	2	0	1	4	0	0	1	4	1	6	1	6	0	3	0	2	0	3	8	4			TCGA-CH-5761-01A-11D-1576-08	TCGA-CH-5761-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb9b1203-fc4a-40c9-867a-436a54c61cf3	b8efa698-2592-447e-b038-3b4da4ebf6de	g.chr2:227729702G>C	ENST00000341329.3	+	2	535	c.293G>C	c.(292-294)aGa>aCa	p.R98T	RHBDD1_ENST00000392062.2_Missense_Mutation_p.R98T	NM_032276.3	NP_115652.2	Q8TEB9	RHBL4_HUMAN	rhomboid domain containing 1	98					apoptotic process (GO:0006915)|cellular response to unfolded protein (GO:0034620)|cellular response to UV (GO:0034644)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|membrane protein intracellular domain proteolysis (GO:0031293)|membrane protein proteolysis (GO:0033619)|negative regulation of apoptotic process (GO:0043066)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein processing (GO:0010954)|positive regulation of secretion (GO:0051047)|post-translational protein modification (GO:0043687)|spermatid differentiation (GO:0048515)	endoplasmic reticulum membrane (GO:0005789)|endoplasmic reticulum quality control compartment (GO:0044322)|integral component of endoplasmic reticulum membrane (GO:0030176)|mitochondrion (GO:0005739)	endopeptidase activity (GO:0004175)|serine-type endopeptidase activity (GO:0004252)	p.R98T(1)		breast(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19		Renal(207;0.023)|all_lung(227;0.13)|Esophageal squamous(248;0.23)|all_hematologic(139;0.248)		Epithelial(121;1.47e-11)|all cancers(144;1.52e-08)|Lung(261;0.0128)|LUSC - Lung squamous cell carcinoma(224;0.0175)		CTAGAAAGAAGACTGGGAAGT	0.423																																						ENST00000392062.2																			1	Substitution - Missense(1)	p.R98T(1)	prostate(1)	breast(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19						c.(292-294)aGa>aCa		rhomboid domain containing 1							188	178	182					2																	227729702		2203	4300	6503	SO:0001583	missense	84236					integral to membrane	serine-type endopeptidase activity	g.chr2:227729702G>C	AK074258	CCDS2464.1	2q36.3	2012-07-09			ENSG00000144468	ENSG00000144468			23081	protein-coding gene	gene with protein product						12838346	Standard	NM_032276		Approved	DKFZp547E052	uc002voi.3	Q8TEB9	OTTHUMG00000133178	ENST00000341329.3:c.293G>C	2.37:g.227729702G>C	ENSP00000344779:p.Arg98Thr					RHBDD1_ENST00000341329.3_Missense_Mutation_p.R98T	p.R98T	NM_001167608.1	NP_001161080.1	Q8TEB9	RHBD1_HUMAN		Epithelial(121;1.47e-11)|all cancers(144;1.52e-08)|Lung(261;0.0128)|LUSC - Lung squamous cell carcinoma(224;0.0175)	4	817	+		Renal(207;0.023)|all_lung(227;0.13)|Esophageal squamous(248;0.23)|all_hematologic(139;0.248)	98					Q495B9|Q53S43|Q5EBM8|Q6P5V8|Q8IV60|Q9H057	Missense_Mutation	SNP	ENST00000341329.3	37	c.293G>C	CCDS2464.1	.	.	.	.	.	.	.	.	.	.	G	19.97	3.925624	0.73213	.	.	ENSG00000144468	ENST00000424132;ENST00000341329;ENST00000392062;ENST00000423616;ENST00000448992	T;T;T;T;T	0.14022	2.54;2.54;2.54;2.54;2.54	6.04	6.04	0.98038	Peptidase S54, rhomboid domain (1);	0.110324	0.64402	D	0.000002	T	0.30103	0.0754	M	0.73319	2.225	0.40383	D	0.979467	D;D	0.69078	0.997;0.996	D;D	0.66602	0.945;0.928	T	0.03673	-1.1014	10	0.16896	T	0.51	-20.9831	10.5305	0.44973	0.1463:0.0:0.8537:0.0	.	98;98	C9K011;Q8TEB9	.;RHBD1_HUMAN	T	98	ENSP00000400765:R98T;ENSP00000344779:R98T;ENSP00000375914:R98T;ENSP00000399694:R98T;ENSP00000388847:R98T	ENSP00000344779:R98T	R	+	2	0	RHBDD1	227437946	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	4.373000	0.59537	2.873000	0.98535	0.563000	0.77884	AGA		0.423	RHBDD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256885.2			8	330	0	0	0	0.27861	0	8	330					C	227729702	G	C	227729702	3	2	27	1	0	0	0	0	1	0	0	0	13316	942	33	5	295	5	RHBDD1	2	227729702	Missense_Mutation	SNP	G	TCGA-CH-5761-01A-11D-1576-08	23	227729702	15469671	16	1264			1	3		2	2	24	G		5.646431e-05
PASK	23178	broad.mit.edu	37	chr2	242066484	242066484	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgccaccacaagccccattCactcccatagcaagggcagt	11	6	7	17	1	1	0	1	0	0	0	3	0	2	0	5	1	2	2	5	1	3	2			TCGA-CH-5761-01A-11D-1576-08	TCGA-CH-5761-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb9b1203-fc4a-40c9-867a-436a54c61cf3	b8efa698-2592-447e-b038-3b4da4ebf6de	g.chr2:242066484C>A	ENST00000405260.1	-	10	2544	c.1846G>T	c.(1846-1848)Gaa>Taa	p.E616*	PASK_ENST00000539818.1_Nonsense_Mutation_p.E400*|PASK_ENST00000234040.4_Nonsense_Mutation_p.E616*|PASK_ENST00000358649.4_Nonsense_Mutation_p.E616*|PASK_ENST00000544142.1_Nonsense_Mutation_p.E430*|PASK_ENST00000403638.3_Nonsense_Mutation_p.E616*	NM_001252120.1	NP_001239049.1	Q96RG2	PASK_HUMAN	PAS domain containing serine/threonine kinase	616					negative regulation of glycogen biosynthetic process (GO:0045719)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of energy homeostasis (GO:2000505)|regulation of glucagon secretion (GO:0070092)|regulation of respiratory gaseous exchange (GO:0043576)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	ATP binding (GO:0005524)|phosphatidylinositol binding (GO:0035091)|protein serine/threonine kinase activity (GO:0004674)|signal transducer activity (GO:0004871)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(20)|ovary(4)|prostate(4)|skin(1)|stomach(1)|urinary_tract(2)	53		all_cancers(19;4.46e-39)|all_epithelial(40;1.34e-17)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00481)|Lung NSC(271;0.017)|Ovarian(221;0.0228)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;1.34e-31)|all cancers(36;1e-28)|OV - Ovarian serous cystadenocarcinoma(60;3.53e-14)|Kidney(56;4.31e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.35e-08)|BRCA - Breast invasive adenocarcinoma(100;5.64e-06)|Lung(119;0.000596)|LUSC - Lung squamous cell carcinoma(224;0.00481)|Colorectal(34;0.014)|COAD - Colon adenocarcinoma(134;0.0968)		AAGCCCCATTCACTCCCATAG	0.662																																						ENST00000403638.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(20)|ovary(4)|prostate(4)|skin(1)|stomach(1)|urinary_tract(2)	53						c.(1846-1848)Gaa>Taa		PAS domain containing serine/threonine kinase							48	54	52					2																	242066484		2203	4300	6503	SO:0001587	stop_gained	23178				regulation of transcription, DNA-dependent	Golgi apparatus	ATP binding|identical protein binding|protein serine/threonine kinase activity|signal transducer activity	g.chr2:242066484C>A	U79240	CCDS2545.1, CCDS58758.1, CCDS58759.1	2q37.3	2008-05-23			ENSG00000115687	ENSG00000115687			17270	protein-coding gene	gene with protein product		607505				11688972, 11459942, 15148392	Standard	NM_001252119		Approved	PASKIN, KIAA0135, STK37	uc010fzl.2	Q96RG2	OTTHUMG00000133392	ENST00000405260.1:c.1846G>T	2.37:g.242066484C>A	ENSP00000384016:p.Glu616*					PASK_ENST00000234040.4_Nonsense_Mutation_p.E616*|PASK_ENST00000544142.1_Nonsense_Mutation_p.E430*|PASK_ENST00000405260.1_Nonsense_Mutation_p.E616*|PASK_ENST00000358649.4_Nonsense_Mutation_p.E616*|PASK_ENST00000539818.1_Nonsense_Mutation_p.E400*	p.E616*	NM_001252124.1	NP_001239053.1	Q96RG2	PASK_HUMAN		Epithelial(32;1.34e-31)|all cancers(36;1e-28)|OV - Ovarian serous cystadenocarcinoma(60;3.53e-14)|Kidney(56;4.31e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.35e-08)|BRCA - Breast invasive adenocarcinoma(100;5.64e-06)|Lung(119;0.000596)|LUSC - Lung squamous cell carcinoma(224;0.00481)|Colorectal(34;0.014)|COAD - Colon adenocarcinoma(134;0.0968)	10	1937	-		all_cancers(19;4.46e-39)|all_epithelial(40;1.34e-17)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00481)|Lung NSC(271;0.017)|Ovarian(221;0.0228)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)	616					G5E9F1|Q05BE4|Q68DY3|Q6GSJ5|Q86XH6|Q99763|Q9UFR7	Nonsense_Mutation	SNP	ENST00000405260.1	37	c.1846G>T	CCDS2545.1	.	.	.	.	.	.	.	.	.	.	C	42	9.664027	0.99233	.	.	ENSG00000115687	ENST00000234040;ENST00000544142;ENST00000405260;ENST00000358649;ENST00000539818;ENST00000403638	.	.	.	4.16	3.28	0.37604	.	0.228496	0.30043	N	0.010558	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.44086	T	0.13	.	8.4638	0.32944	0.0:0.8878:0.0:0.1122	.	.	.	.	X	616;430;616;616;400;616	.	ENSP00000234040:E616X	E	-	1	0	PASK	241715157	0.025000	0.19082	0.040000	0.18447	0.004000	0.04260	1.077000	0.30741	1.076000	0.40961	0.561000	0.74099	GAA		0.662	PASK-003	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000323753.1	NM_015148		4	156	1	0	2.56e-06	0.150653	3.01176e-06	4	156					A	242066484	C	A	242066484	4	1	27	1	0	0	0	0	0	1	0	0	11472	835	29	5	2161	5	PASK	2	242066484	Nonsense_Mutation	SNP	C	TCGA-CH-5761-01A-11D-1576-08	14336782	242066484	1132889	17	1265											
CNTN4	152330	broad.mit.edu	37	chr3	2613235	2613235	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ctgcaatcattcattttgtgCcttgcaggtagagtgtcatt	8	16	9	8	0	3	1	3	0	0	1	3	1	3	1	1	1	3	3	1	1	2	6			TCGA-CH-5761-01A-11D-1576-08	TCGA-CH-5761-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb9b1203-fc4a-40c9-867a-436a54c61cf3	b8efa698-2592-447e-b038-3b4da4ebf6de	g.chr3:2613235C>A	ENST00000397461.1	+	3	432	c.48C>A	c.(46-48)tgC>tgA	p.C16*	CNTN4_ENST00000427331.1_Nonsense_Mutation_p.C16*|CNTN4_ENST00000418658.1_Nonsense_Mutation_p.C16*	NM_001206955.1	NP_001193884.1	Q8IWV2	CNTN4_HUMAN	contactin 4	16					axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|axonogenesis (GO:0007409)|brain development (GO:0007420)|negative regulation of neuron differentiation (GO:0045665)|nervous system development (GO:0007399)|neuron cell-cell adhesion (GO:0007158)|neuron projection development (GO:0031175)|regulation of synaptic plasticity (GO:0048167)	anchored component of membrane (GO:0031225)|axon (GO:0030424)|extracellular region (GO:0005576)|plasma membrane (GO:0005886)		p.C16*(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		TCATTTTGTGCCTTGCAGGTA	0.393																																						ENST00000397461.1																			1	Substitution - Nonsense(1)	p.C16*(1)	prostate(1)	NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						c.(46-48)tgC>tgA		contactin 4							154	138	143					3																	2613235		1885	4109	5994	SO:0001587	stop_gained	152330				axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity	anchored to membrane|axon|extracellular region|plasma membrane	protein binding	g.chr3:2613235C>A	AW665944	CCDS2558.1, CCDS43041.1	3p26.3	2013-02-11			ENSG00000144619	ENSG00000144619		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	2174	protein-coding gene	gene with protein product		607280				8586965, 12202991	Standard	NM_175607		Approved	BIG-2	uc003bpc.3	Q8IWV2	OTTHUMG00000119031	ENST00000397461.1:c.48C>A	3.37:g.2613235C>A	ENSP00000380602:p.Cys16*					CNTN4_ENST00000427331.1_Nonsense_Mutation_p.C16*|CNTN4_ENST00000418658.1_Nonsense_Mutation_p.C16*	p.C16*	NM_001206955.1	NP_001193884.1	Q8IWV2	CNTN4_HUMAN		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)	3	432	+		Ovarian(110;0.156)	16					B2RAX3|Q8IX14|Q8TC35	Nonsense_Mutation	SNP	ENST00000397461.1	37	c.48C>A	CCDS43041.1	.	.	.	.	.	.	.	.	.	.	C	42	9.641628	0.99227	.	.	ENSG00000144619	ENST00000422330;ENST00000455083;ENST00000418658;ENST00000397461;ENST00000434053;ENST00000427331	.	.	.	5.09	5.09	0.68999	.	2.387270	0.01647	N	0.024386	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	16.6315	0.85035	0.0:1.0:0.0:0.0	.	.	.	.	X	16	.	ENSP00000380602:C16X	C	+	3	2	CNTN4	2588235	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	6.479000	0.73600	2.509000	0.84616	0.491000	0.48974	TGC		0.393	CNTN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239236.2			66	111	1	0	5.79337e-17	0.870114	7.1523e-17	66	111					A	2613235	C	A	2613235	4	1	27	1	0	0	0	0	0	1	0	0	3643	747	26	5	50	5	CNTN4	3	2613235	Nonsense_Mutation	SNP	C	TCGA-CH-5761-01A-11D-1576-08		2613235	195409195	18	1266											
SETD5	55209	broad.mit.edu	37	chr3	9482170	9482170	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctgaagcacagaatttagatGagaatacaactgagggctgg	15	8	12	6	0	0	5	0	3	0	3	0	6	0	5	0	2	3	2	0	2	6	3			TCGA-CH-5761-01A-11D-1576-08	TCGA-CH-5761-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb9b1203-fc4a-40c9-867a-436a54c61cf3	b8efa698-2592-447e-b038-3b4da4ebf6de	g.chr3:9482170G>A	ENST00000406341.1	+	7	788	c.598G>A	c.(598-600)Gag>Aag	p.E200K	SETD5_ENST00000302463.6_Missense_Mutation_p.E102K|SETD5_ENST00000402198.1_Missense_Mutation_p.E200K|SETD5_ENST00000402466.1_Missense_Mutation_p.E102K|SETD5_ENST00000407969.1_Missense_Mutation_p.E219K			Q9C0A6	SETD5_HUMAN	SET domain containing 5	200								p.E200K(1)|p.E102K(1)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(3)|prostate(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.112)		GAATTTAGATGAGAATACAAC	0.433																																						ENST00000402466.1																			2	Substitution - Missense(2)	p.E200K(1)|p.E102K(1)	prostate(2)	NS(2)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(3)|prostate(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						c.(304-306)Gag>Aag		SET domain containing 5							55	52	53					3																	9482170		1827	4072	5899	SO:0001583	missense	55209							g.chr3:9482170G>A	BC020956	CCDS46741.1, CCDS74892.1	3p25.3	2011-12-13			ENSG00000168137	ENSG00000168137			25566	protein-coding gene	gene with protein product		615743				11214970	Standard	XM_005265299		Approved	FLJ10707	uc003brt.3	Q9C0A6	OTTHUMG00000150491	ENST00000406341.1:c.598G>A	3.37:g.9482170G>A	ENSP00000383939:p.Glu200Lys					SETD5_ENST00000302463.6_Missense_Mutation_p.E102K|SETD5_ENST00000407969.1_Missense_Mutation_p.E219K|SETD5_ENST00000402198.1_Missense_Mutation_p.E200K|SETD5_ENST00000406341.1_Missense_Mutation_p.E200K	p.E102K			Q9C0A6	SETD5_HUMAN		OV - Ovarian serous cystadenocarcinoma(96;0.112)	9	1072	+	Medulloblastoma(99;0.227)		200					Q6AI17|Q8WUB6|Q9H3X4|Q9H6V7|Q9H7S3|Q9NVI9	Missense_Mutation	SNP	ENST00000406341.1	37	c.304G>A	CCDS46741.1	.	.	.	.	.	.	.	.	.	.	G	33	5.266424	0.95399	.	.	ENSG00000168137	ENST00000402198;ENST00000402466;ENST00000406341;ENST00000407969;ENST00000442373;ENST00000302463	D;D;D;D;T;D	0.93019	-2.78;-3.15;-2.78;-2.76;0.77;-3.15	5.24	5.24	0.73138	.	0.000000	0.85682	D	0.000000	D	0.95529	0.8547	L	0.47716	1.5	0.50313	D	0.999867	D;D;P	0.76494	0.999;0.997;0.892	D;D;P	0.77557	0.99;0.98;0.672	D	0.95657	0.8712	10	0.62326	D	0.03	-5.7115	19.1893	0.93658	0.0:0.0:1.0:0.0	.	102;200;219	Q9C0A6-3;Q9C0A6;E7EWN3	.;SETD5_HUMAN;.	K	200;102;200;219;89;102	ENSP00000385852:E200K;ENSP00000384429:E102K;ENSP00000383939:E200K;ENSP00000384114:E219K;ENSP00000408837:E89K;ENSP00000302028:E102K	ENSP00000302028:E102K	E	+	1	0	SETD5	9457170	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.420000	0.97426	2.628000	0.89032	0.563000	0.77884	GAG		0.433	SETD5-001	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318425.1	XM_371614		15	39	0	0	0	0.667858	0	15	39					A	9482170	G	A	9482170	3	1	27	1	0	0	0	0	1	0	0	0	14134	1291	45	3	620	3	SETD5	3	9482170	Missense_Mutation	SNP	G	TCGA-CH-5761-01A-11D-1576-08	6868935	9482170	188540260	19	1267			2	4		5	4	137	N	G	6.065876e-12
SETD5	55209	broad.mit.edu	37	chr3	9482199	9482199	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	actgagggctgggaaaatcgGataagactatggactgacca	14	7	13	7	1	0	3	0	2	0	1	1	6	0	6	1	4	0	1	1	4	4	2			TCGA-CH-5761-01A-11D-1576-08	TCGA-CH-5761-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb9b1203-fc4a-40c9-867a-436a54c61cf3	b8efa698-2592-447e-b038-3b4da4ebf6de	g.chr3:9482199G>A	ENST00000406341.1	+	7	817	c.627G>A	c.(625-627)cgG>cgA	p.R209R	SETD5_ENST00000302463.6_Silent_p.R111R|SETD5_ENST00000402198.1_Silent_p.R209R|SETD5_ENST00000402466.1_Silent_p.R111R|SETD5_ENST00000407969.1_Silent_p.R228R			Q9C0A6	SETD5_HUMAN	SET domain containing 5	209								p.R111R(1)|p.R209R(1)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(3)|prostate(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.112)		GGGAAAATCGGATAAGACTAT	0.413																																						ENST00000402466.1																			2	Substitution - coding silent(2)	p.R111R(1)|p.R209R(1)	prostate(2)	NS(2)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(3)|prostate(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						c.(331-333)cgG>cgA		SET domain containing 5							75	71	72					3																	9482199		1861	4085	5946	SO:0001819	synonymous_variant	55209							g.chr3:9482199G>A	BC020956	CCDS46741.1, CCDS74892.1	3p25.3	2011-12-13			ENSG00000168137	ENSG00000168137			25566	protein-coding gene	gene with protein product		615743				11214970	Standard	XM_005265299		Approved	FLJ10707	uc003brt.3	Q9C0A6	OTTHUMG00000150491	ENST00000406341.1:c.627G>A	3.37:g.9482199G>A						SETD5_ENST00000302463.6_Silent_p.R111R|SETD5_ENST00000407969.1_Silent_p.R228R|SETD5_ENST00000402198.1_Silent_p.R209R|SETD5_ENST00000406341.1_Silent_p.R209R	p.R111R			Q9C0A6	SETD5_HUMAN		OV - Ovarian serous cystadenocarcinoma(96;0.112)	9	1101	+	Medulloblastoma(99;0.227)		209					Q6AI17|Q8WUB6|Q9H3X4|Q9H6V7|Q9H7S3|Q9NVI9	Silent	SNP	ENST00000406341.1	37	c.333G>A	CCDS46741.1																																																																																				0.413	SETD5-001	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318425.1	XM_371614		4	50	0	0	0	0.693898	0	4	50					A	9482199	G	A	9482199	2	1	27	1	0	0	0	0	0	0	0	1	14134	1161	41	3		3	SETD5	3	9482199	Silent	SNP	G	TCGA-CH-5761-01A-11D-1576-08	29	9482199	188540231	20	1268			2	4		5	4	137	N	G	6.065876e-12
SETD5	55209	broad.mit.edu	37	chr3	9482254	9482254	+	Missense_Mutation	SNP	G	G	A																															tcactaatcagtacagtgcaGatgtacagaacgcgcttgaa																										TCGA-CH-5761-01A-11D-1576-08	TCGA-CH-5761-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb9b1203-fc4a-40c9-867a-436a54c61cf3	b8efa698-2592-447e-b038-3b4da4ebf6de	g.chr3:9482254G>A	ENST00000406341.1	+	7	872	c.682G>A	c.(682-684)Gat>Aat	p.D228N	SETD5_ENST00000302463.6_Missense_Mutation_p.D130N|SETD5_ENST00000402198.1_Missense_Mutation_p.D228N|SETD5_ENST00000402466.1_Missense_Mutation_p.D130N|SETD5_ENST00000407969.1_Missense_Mutation_p.D247N			Q9C0A6	SETD5_HUMAN	SET domain containing 5	228								p.D228N(1)|p.D130N(1)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(3)|prostate(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.112)		GTACAGTGCAGATGTACAGAA	0.398																																						ENST00000402466.1																			2	Substitution - Missense(2)	p.D228N(1)|p.D130N(1)	prostate(2)	NS(2)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(3)|prostate(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						c.(388-390)Gat>Aat		SET domain containing 5							99	94	96					3																	9482254		1895	4114	6009	SO:0001583	missense	55209							g.chr3:9482254G>A	BC020956	CCDS46741.1, CCDS74892.1	3p25.3	2011-12-13			ENSG00000168137	ENSG00000168137			25566	protein-coding gene	gene with protein product		615743				11214970	Standard	XM_005265299		Approved	FLJ10707	uc003brt.3	Q9C0A6	OTTHUMG00000150491	ENST00000406341.1:c.682G>A	3.37:g.9482254G>A	ENSP00000383939:p.Asp228Asn					SETD5_ENST00000302463.6_Missense_Mutation_p.D130N|SETD5_ENST00000407969.1_Missense_Mutation_p.D247N|SETD5_ENST00000402198.1_Missense_Mutation_p.D228N|SETD5_ENST00000406341.1_Missense_Mutation_p.D228N	p.D130N			Q9C0A6	SETD5_HUMAN		OV - Ovarian serous cystadenocarcinoma(96;0.112)	9	1156	+	Medulloblastoma(99;0.227)		228					Q6AI17|Q8WUB6|Q9H3X4|Q9H6V7|Q9H7S3|Q9NVI9	Missense_Mutation	SNP	ENST00000406341.1	37	c.388G>A	CCDS46741.1	.	.	.	.	.	.	.	.	.	.	G	36	5.745473	0.96882	.	.	ENSG00000168137	ENST00000402198;ENST00000402466;ENST00000406341;ENST00000407969;ENST00000442373;ENST00000302463	D;D;D;D;T;D	0.93811	-2.86;-3.29;-2.86;-2.85;0.65;-3.29	5.37	5.37	0.77165	.	0.000000	0.85682	D	0.000000	D	0.95626	0.8578	L	0.50333	1.59	0.80722	D	1	D;D;D	0.89917	1.0;0.997;0.991	D;D;P	0.87578	0.998;0.989;0.833	D	0.94507	0.7715	10	0.37606	T	0.19	-5.1712	19.4739	0.94976	0.0:0.0:1.0:0.0	.	130;228;247	Q9C0A6-3;Q9C0A6;E7EWN3	.;SETD5_HUMAN;.	N	228;130;228;247;117;130	ENSP00000385852:D228N;ENSP00000384429:D130N;ENSP00000383939:D228N;ENSP00000384114:D247N;ENSP00000408837:D117N;ENSP00000302028:D130N	ENSP00000302028:D130N	D	+	1	0	SETD5	9457254	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.420000	0.97426	2.697000	0.92050	0.655000	0.94253	GAT		0.398	SETD5-001	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318425.1	XM_371614		8	55	0	0	0	0.779181	0	8	55					A	9482254	G	A	9482254	3	1	27	1	0	0	0	0	1	0	0	0	14134	942	33	3	704	3	SETD5	3	9482254	Missense_Mutation	SNP	G	TCGA-CH-5761-01A-11D-1576-08	55	9482254	188540176	21	1269	9	2	2	4		5	4	137	N	G	6.065876e-12
SETD5	55209	broad.mit.edu	37	chr3	9482262	9482262	+	Missense_Mutation	SNP	G	G	C																															cagtacagtgcagatgtacaGaacgcgcttgaacaacacct																										TCGA-CH-5761-01A-11D-1576-08	TCGA-CH-5761-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb9b1203-fc4a-40c9-867a-436a54c61cf3	b8efa698-2592-447e-b038-3b4da4ebf6de	g.chr3:9482262G>C	ENST00000406341.1	+	7	880	c.690G>C	c.(688-690)caG>caC	p.Q230H	SETD5_ENST00000302463.6_Missense_Mutation_p.Q132H|SETD5_ENST00000402198.1_Missense_Mutation_p.Q230H|SETD5_ENST00000402466.1_Missense_Mutation_p.Q132H|SETD5_ENST00000407969.1_Missense_Mutation_p.Q249H			Q9C0A6	SETD5_HUMAN	SET domain containing 5	230								p.Q230H(1)|p.Q132H(1)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(3)|prostate(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.112)		CAGATGTACAGAACGCGCTTG	0.393																																						ENST00000402466.1																			2	Substitution - Missense(2)	p.Q230H(1)|p.Q132H(1)	prostate(2)	NS(2)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(3)|prostate(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						c.(394-396)caG>caC		SET domain containing 5							99	95	96					3																	9482262		1899	4119	6018	SO:0001583	missense	55209							g.chr3:9482262G>C	BC020956	CCDS46741.1, CCDS74892.1	3p25.3	2011-12-13			ENSG00000168137	ENSG00000168137			25566	protein-coding gene	gene with protein product		615743				11214970	Standard	XM_005265299		Approved	FLJ10707	uc003brt.3	Q9C0A6	OTTHUMG00000150491	ENST00000406341.1:c.690G>C	3.37:g.9482262G>C	ENSP00000383939:p.Gln230His					SETD5_ENST00000302463.6_Missense_Mutation_p.Q132H|SETD5_ENST00000407969.1_Missense_Mutation_p.Q249H|SETD5_ENST00000402198.1_Missense_Mutation_p.Q230H|SETD5_ENST00000406341.1_Missense_Mutation_p.Q230H	p.Q132H			Q9C0A6	SETD5_HUMAN		OV - Ovarian serous cystadenocarcinoma(96;0.112)	9	1164	+	Medulloblastoma(99;0.227)		230					Q6AI17|Q8WUB6|Q9H3X4|Q9H6V7|Q9H7S3|Q9NVI9	Missense_Mutation	SNP	ENST00000406341.1	37	c.396G>C	CCDS46741.1	.	.	.	.	.	.	.	.	.	.	G	18.69	3.677285	0.68042	.	.	ENSG00000168137	ENST00000402198;ENST00000402466;ENST00000406341;ENST00000407969;ENST00000442373;ENST00000302463	D;D;D;D;T;D	0.93307	-2.9;-3.2;-2.9;-2.89;0.61;-3.2	5.37	2.11	0.27256	.	0.000000	0.85682	D	0.000000	D	0.95335	0.8486	M	0.65498	2.005	0.42683	D	0.993555	D;D;D	0.89917	1.0;0.996;0.997	D;D;D	0.91635	0.999;0.986;0.981	D	0.94849	0.8012	10	0.87932	D	0	-11.6382	11.2569	0.49058	0.3047:0.0:0.6953:0.0	.	132;230;249	Q9C0A6-3;Q9C0A6;E7EWN3	.;SETD5_HUMAN;.	H	230;132;230;249;119;132	ENSP00000385852:Q230H;ENSP00000384429:Q132H;ENSP00000383939:Q230H;ENSP00000384114:Q249H;ENSP00000408837:Q119H;ENSP00000302028:Q132H	ENSP00000302028:Q132H	Q	+	3	2	SETD5	9457262	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.689000	0.37700	0.752000	0.32923	0.655000	0.94253	CAG		0.393	SETD5-001	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318425.1	XM_371614		11	53	0	0	0	0.750413	0	11	53					C	9482262	G	C	9482262	3	2	27	1	0	0	0	0	1	0	0	0	14134	933	33	5	712	5	SETD5	3	9482262	Missense_Mutation	SNP	G	TCGA-CH-5761-01A-11D-1576-08	8	9482262	188540168	22	1270	9	2	2	4		5	4	137	N	G	6.065876e-12
SETD5	55209	broad.mit.edu	37	chr3	9482306	9482306	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ttctagcaaggaatttgtggGcaaacctactattttagaca	13	13	8	7	0	1	1	0	0	1	1	1	2	1	2	1	2	3	2	1	2	7	7			TCGA-CH-5761-01A-11D-1576-08	TCGA-CH-5761-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb9b1203-fc4a-40c9-867a-436a54c61cf3	b8efa698-2592-447e-b038-3b4da4ebf6de	g.chr3:9482306G>A	ENST00000406341.1	+	7	924	c.734G>A	c.(733-735)gGc>gAc	p.G245D	SETD5_ENST00000302463.6_Missense_Mutation_p.G147D|SETD5_ENST00000402198.1_Missense_Mutation_p.G245D|SETD5_ENST00000402466.1_Missense_Mutation_p.G147D|SETD5_ENST00000407969.1_Missense_Mutation_p.G264D			Q9C0A6	SETD5_HUMAN	SET domain containing 5	245								p.G147D(1)|p.G245D(1)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(3)|prostate(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.112)		GAATTTGTGGGCAAACCTACT	0.408																																						ENST00000402466.1																			2	Substitution - Missense(2)	p.G147D(1)|p.G245D(1)	prostate(2)	NS(2)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(3)|prostate(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						c.(439-441)gGc>gAc		SET domain containing 5							88	83	85					3																	9482306		1889	4111	6000	SO:0001583	missense	55209							g.chr3:9482306G>A	BC020956	CCDS46741.1, CCDS74892.1	3p25.3	2011-12-13			ENSG00000168137	ENSG00000168137			25566	protein-coding gene	gene with protein product		615743				11214970	Standard	XM_005265299		Approved	FLJ10707	uc003brt.3	Q9C0A6	OTTHUMG00000150491	ENST00000406341.1:c.734G>A	3.37:g.9482306G>A	ENSP00000383939:p.Gly245Asp					SETD5_ENST00000302463.6_Missense_Mutation_p.G147D|SETD5_ENST00000407969.1_Missense_Mutation_p.G264D|SETD5_ENST00000402198.1_Missense_Mutation_p.G245D|SETD5_ENST00000406341.1_Missense_Mutation_p.G245D	p.G147D			Q9C0A6	SETD5_HUMAN		OV - Ovarian serous cystadenocarcinoma(96;0.112)	9	1208	+	Medulloblastoma(99;0.227)		245					Q6AI17|Q8WUB6|Q9H3X4|Q9H6V7|Q9H7S3|Q9NVI9	Missense_Mutation	SNP	ENST00000406341.1	37	c.440G>A	CCDS46741.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.272122	0.80469	.	.	ENSG00000168137	ENST00000402198;ENST00000402466;ENST00000406341;ENST00000407969;ENST00000442373;ENST00000302463	D;D;D;D;T;D	0.93133	-2.83;-3.17;-2.83;-2.81;0.76;-3.17	5.33	5.33	0.75918	.	0.267216	0.38605	N	0.001638	D	0.94883	0.8346	L	0.36672	1.1	0.41898	D	0.990407	D;D;D	0.71674	0.998;0.998;0.979	D;D;P	0.68192	0.956;0.914;0.771	D	0.95347	0.8443	10	0.66056	D	0.02	-5.6254	19.4544	0.94882	0.0:0.0:1.0:0.0	.	147;245;264	Q9C0A6-3;Q9C0A6;E7EWN3	.;SETD5_HUMAN;.	D	245;147;245;264;134;147	ENSP00000385852:G245D;ENSP00000384429:G147D;ENSP00000383939:G245D;ENSP00000384114:G264D;ENSP00000408837:G134D;ENSP00000302028:G147D	ENSP00000302028:G147D	G	+	2	0	SETD5	9457306	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	5.786000	0.69006	2.693000	0.91896	0.650000	0.86243	GGC		0.408	SETD5-001	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318425.1	XM_371614		5	39	0	0	0	0.592651	0	5	39					A	9482306	G	A	9482306	3	1	27	1	0	0	0	0	1	0	0	0	14134	1203	42	3	756	3	SETD5	3	9482306	Missense_Mutation	SNP	G	TCGA-CH-5761-01A-11D-1576-08	44	9482306	188540124	23	1271			2	4		5	4	137	N	G	6.065876e-12
IRAK2	3656	broad.mit.edu	37	chr3	10268074	10268074	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtgttggccgaggtcctcaCgggcatccctgcaatggata	7	9	14	11	2	1	0	1	0	0	0	3	2	3	1	3	5	1	3	3	5	2	2	rs374087042		TCGA-CH-5761-01A-11D-1576-08	TCGA-CH-5761-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb9b1203-fc4a-40c9-867a-436a54c61cf3	b8efa698-2592-447e-b038-3b4da4ebf6de	g.chr3:10268074C>T	ENST00000256458.4	+	10	1319	c.1229C>T	c.(1228-1230)aCg>aTg	p.T410M		NM_001570.3	NP_001561.3	O43187	IRAK2_HUMAN	interleukin-1 receptor-associated kinase 2	410	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-1-mediated signaling pathway (GO:0070498)|JNK cascade (GO:0007254)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein phosphorylation (GO:0006468)|regulation of cytokine-mediated signaling pathway (GO:0001959)|response to interleukin-1 (GO:0070555)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|endosome membrane (GO:0010008)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)	p.T410M(1)		breast(4)|large_intestine(8)|lung(11)|prostate(1)|stomach(1)	25						GAGGTCCTCACGGGCATCCCT	0.537																																						ENST00000256458.4																			1	Substitution - Missense(1)	p.T410M(1)	prostate(1)	breast(4)|large_intestine(8)|lung(11)|prostate(1)|stomach(1)	25						c.(1228-1230)aCg>aTg		interleukin-1 receptor-associated kinase 2							106	90	95					3																	10268074		2203	4296	6499	SO:0001583	missense	3656				activation of MAPK activity|I-kappaB kinase/NF-kappaB cascade|inflammatory response|innate immune response|interleukin-1-mediated signaling pathway|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of NF-kappaB transcription factor activity|positive regulation of NF-kappaB transcription factor activity|regulation of cytokine-mediated signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cell surface|cytosol|endosome membrane|plasma membrane	ATP binding|NF-kappaB-inducing kinase activity|protein heterodimerization activity|protein homodimerization activity	g.chr3:10268074C>T	AF026273	CCDS33697.1	3p25.2	2008-08-18			ENSG00000134070	ENSG00000134070			6113	protein-coding gene	gene with protein product		603304				9374458	Standard	XR_245126		Approved		uc003bve.1	O43187	OTTHUMG00000155358	ENST00000256458.4:c.1229C>T	3.37:g.10268074C>T	ENSP00000256458:p.Thr410Met						p.T410M	NM_001570.3	NP_001561.3	O43187	IRAK2_HUMAN			10	1319	+			410			Protein kinase.		B4DQZ6|Q08AG6|Q5K546	Missense_Mutation	SNP	ENST00000256458.4	37	c.1229C>T	CCDS33697.1	.	.	.	.	.	.	.	.	.	.	C	16.68	3.190851	0.58017	.	.	ENSG00000134070	ENST00000256458	T	0.40225	1.04	4.75	4.75	0.60458	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.51477	D	0.000093	T	0.70307	0.3209	M	0.92880	3.355	0.51012	D	0.999904	D	0.89917	1.0	D	0.71184	0.972	T	0.78250	-0.2277	10	0.72032	D	0.01	-21.3221	13.264	0.60122	0.0:1.0:0.0:0.0	.	410	O43187	IRAK2_HUMAN	M	410	ENSP00000256458:T410M	ENSP00000256458:T410M	T	+	2	0	IRAK2	10243074	0.995000	0.38212	0.994000	0.49952	0.507000	0.33981	4.261000	0.58841	2.185000	0.69588	0.561000	0.74099	ACG		0.537	IRAK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339623.1			26	46	0	0	0	0.693898	0	26	46					T	10268074	C	T	10268074	3	4	27	1	0	0	0	0	1	0	0	0	7823	536	19	1	1267	1	IRAK2	3	10268074	Missense_Mutation	SNP	C	TCGA-CH-5761-01A-11D-1576-08	785768	10268074	187754356	24	1272											
TRANK1	9881	broad.mit.edu	37	chr3	36874132	36874132	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cgtgcgctttcattttcaaaCagaaagtggatgtactcctt	10	14	8	9	2	2	1	2	0	0	1	3	2	3	2	1	1	3	2	1	1	3	5			TCGA-CH-5761-01A-11D-1576-08	TCGA-CH-5761-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb9b1203-fc4a-40c9-867a-436a54c61cf3	b8efa698-2592-447e-b038-3b4da4ebf6de	g.chr3:36874132C>T	ENST00000429976.2	-	21	7057	c.6810G>A	c.(6808-6810)ctG>ctA	p.L2270L	TRANK1_ENST00000428977.2_Silent_p.L1720L|TRANK1_ENST00000301807.6_Silent_p.L1720L	NM_014831.2	NP_055646.2	O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	2270							ATP binding (GO:0005524)|hydrolase activity (GO:0016787)	p.L1713L(1)|p.L1720L(1)|p.L2270L(1)		NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						CATTTTCAAACAGAAAGTGGA	0.468																																						ENST00000429976.2																			3	Substitution - coding silent(3)	p.L1713L(1)|p.L1720L(1)|p.L2270L(1)	prostate(3)	NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						c.(6808-6810)ctG>ctA		tetratricopeptide repeat and ankyrin repeat containing 1							75	73	73					3																	36874132		1866	4093	5959	SO:0001819	synonymous_variant	9881				DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding	g.chr3:36874132C>T	AK096678	CCDS46789.1, CCDS46789.2	3p22.2	2013-01-11			ENSG00000168016	ENSG00000168016		"Ankyrin repeat domain containing", "Tetratricopeptide (TTC) repeat domain containing"	29011	protein-coding gene	gene with protein product	"lupus brain antigen 1", "KIAA0342"					9205841	Standard	NM_014831		Approved	LBA1, KIAA0342	uc003cgj.3	O15050	OTTHUMG00000155848	ENST00000429976.2:c.6810G>A	3.37:g.36874132C>T						TRANK1_ENST00000301807.6_Silent_p.L1720L|TRANK1_ENST00000428977.2_Silent_p.L1720L	p.L2270L			O15050	TRNK1_HUMAN			21	7057	-			2270					Q8N8K0	Silent	SNP	ENST00000429976.2	37	c.6810G>A	CCDS46789.2																																																																																				0.468	TRANK1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_014831		103	98	0	0	0	0.870114	0	103	98					T	36874132	C	T	36874132	2	4	27	1	0	0	0	0	0	0	0	1	16451	465	17	3		3	TRANK1	3	36874132	Silent	SNP	C	TCGA-CH-5761-01A-11D-1576-08	26606058	36874132	161148298	25	1273											
RBM5	10181	broad.mit.edu	37	chr3	50147121	50147121	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tccaatccacctggctctccGgtaatcctgttgtcctatat	7	14	6	14	1	1	0	0	0	1	0	6	0	5	0	6	2	0	3	6	2	4	4			TCGA-CH-5761-01A-11D-1576-08	TCGA-CH-5761-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb9b1203-fc4a-40c9-867a-436a54c61cf3	b8efa698-2592-447e-b038-3b4da4ebf6de	g.chr3:50147121G>A	ENST00000347869.3	+	15	1453	c.1278G>A	c.(1276-1278)ccG>ccA	p.P426P	RBM5_ENST00000441812.2_3'UTR	NM_005778.3	NP_005769.1	P52756	RBM5_HUMAN	RNA binding motif protein 5	426	Required for interaction with U2AF2.				apoptotic process (GO:0006915)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of cell proliferation (GO:0008285)|positive regulation of apoptotic process (GO:0043065)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|spliceosomal complex assembly (GO:0000245)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	DNA binding (GO:0003677)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)	p.P426P(1)		breast(2)|cervix(2)|endometrium(3)|large_intestine(4)|lung(6)|prostate(2)	19				BRCA - Breast invasive adenocarcinoma(193;0.000121)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		CTGGCTCTCCGGTAATCCTGT	0.463																																						ENST00000347869.3																			1	Substitution - coding silent(1)	p.P426P(1)	prostate(1)	breast(2)|cervix(2)|endometrium(3)|large_intestine(4)|lung(6)|prostate(2)	19						c.e15+1		RNA binding motif protein 5							131	119	123					3																	50147121		2203	4300	6503	SO:0001630	splice_region_variant	10181				apoptosis|negative regulation of cell proliferation|positive regulation of apoptosis|regulation of alternative nuclear mRNA splicing, via spliceosome|spliceosome assembly	nucleoplasm|spliceosomal complex	DNA binding|mRNA binding|nucleotide binding|protein binding|zinc ion binding	g.chr3:50147121G>A	U23946	CCDS2810.1	3p21.3	2013-08-15			ENSG00000003756	ENSG00000003756		"G patch domain containing", "RNA binding motif (RRM) containing"	9902	protein-coding gene	gene with protein product		606884				10352938, 23935508	Standard	NM_005778		Approved	LUCA15, H37	uc003cyg.3	P52756	OTTHUMG00000156785	ENST00000347869.3:c.1278+1G>A	3.37:g.50147121G>A						RBM5_ENST00000441812.2_3'UTR	p.P426_splice	NM_005778.3	NP_005769.1	P52756	RBM5_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000121)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)	15	1453	+			426			Required for interaction with U2AF2.		B2RA45|B4DM16|B4DMF9|B4DZ63|Q93021|Q9BU14|Q9HDA6|Q9UKY8|Q9UL24	Splice_Site	SNP	ENST00000347869.3	37	c.1278_splice	CCDS2810.1																																																																																				0.463	RBM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345797.3	NM_005778	Silent	88	228	0	0	0	0.870114	0	88	228					A	50147121	G	A	50147121	5	1	27	1	0	0	0	0	0	0	1	0	13143	1130	39	2	1332	2	RBM5	3	50147121	Splice_Site	SNP	G	TCGA-CH-5761-01A-11D-1576-08	13272989	50147121	147875309	26	1274											
SR140	23350	broad.mit.edu	37	chr3	142773862	142773862	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gaaatccccatcaccaaaatCggagcgatcagagcgttcag	14	6	9	12	3	3	1	3	0	0	1	5	4	4	2	3	1	2	1	3	1	3	1			TCGA-CH-5761-01A-11D-1576-08	TCGA-CH-5761-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb9b1203-fc4a-40c9-867a-436a54c61cf3	b8efa698-2592-447e-b038-3b4da4ebf6de	g.chr3:142773862C>T	ENST00000473835.2	+	27	2942	c.2852C>T	c.(2851-2853)tCg>tTg	p.S951L	U2SURP_ENST00000493598.2_Missense_Mutation_p.S950L|U2SURP_ENST00000397933.2_Missense_Mutation_p.S542L	NM_001080415.1	NP_001073884.1	O15042	SR140_HUMAN	U2 snRNP-associated SURP domain containing	951	Arg/Ser-rich.				RNA processing (GO:0006396)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.S951L(2)		NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	31						TCACCAAAATCGGAGCGATCA	0.488																																						ENST00000397933.2																			2	Substitution - Missense(2)	p.S951L(2)	prostate(2)	NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	31						c.(1624-1626)tCg>tTg		U2 snRNP-associated SURP domain containing							72	66	68					3																	142773862		1915	4134	6049	SO:0001583	missense	23350				RNA processing	nucleus	nucleotide binding|RNA binding	g.chr3:142773862C>T	BK000564	CCDS46928.1	3q23	2013-02-12			ENSG00000163714	ENSG00000163714		"RNA binding motif (RRM) containing"	30855	protein-coding gene	gene with protein product	"functional spliceosome-associated protein a", "Ser/Arg-rich domain protein, 140 kDa", "U2 associated SR140 protein"					9205841, 12234937	Standard	NM_001080415		Approved	fSAPa, SR140	uc003evh.1	O15042	OTTHUMG00000159323	ENST00000473835.2:c.2852C>T	3.37:g.142773862C>T	ENSP00000418563:p.Ser951Leu					U2SURP_ENST00000493598.2_Missense_Mutation_p.S950L|U2SURP_ENST00000473835.2_Missense_Mutation_p.S951L	p.S542L			O15042	SR140_HUMAN			26	2907	+			951			CID.		A0PJ60|Q0D2M1|Q2NKQ7|Q9BR70	Missense_Mutation	SNP	ENST00000473835.2	37	c.1625C>T	CCDS46928.1	.	.	.	.	.	.	.	.	.	.	C	18.01	3.527646	0.64860	.	.	ENSG00000163714	ENST00000473835;ENST00000319822;ENST00000397933;ENST00000493598	T;T;T	0.43688	2.16;0.94;2.16	5.74	4.87	0.63330	.	0.144567	0.48767	D	0.000176	T	0.52996	0.1769	L	0.36672	1.1	0.58432	D	0.999991	D;D;D	0.69078	0.997;0.997;0.994	D;D;P	0.66847	0.947;0.947;0.885	T	0.53380	-0.8447	10	0.46703	T	0.11	-4.4285	15.1583	0.72761	0.0:0.9322:0.0:0.0678	.	950;542;951	O15042-2;O15042-3;O15042	.;.;SR140_HUMAN	L	951;951;542;950	ENSP00000418563:S951L;ENSP00000381027:S542L;ENSP00000422011:S950L	ENSP00000322376:S951L	S	+	2	0	U2SURP	144256552	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.586000	0.74067	1.577000	0.49804	0.563000	0.77884	TCG		0.488	U2SURP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354603.2	NM_001080415		10	13	0	0	0	0.361761	0	10	13					T	142773862	C	T	142773862	3	4	27	1	0	0	0	0	1	0	0	0	15130	893	31	2	2958	2	SR140	3	142773862	Missense_Mutation	SNP	C	TCGA-CH-5761-01A-11D-1576-08	92626741	142773862	55248568	27	1275											
ZIC1	7545	broad.mit.edu	37	chr3	147130364	147130364	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggcgcttcgctaacagcagcGaccgcaagaagcacatgcac	12	4	11	14	4	0	1	0	0	0	1	1	2	0	1	1	1	5	6	1	1	3	2			TCGA-CH-5761-01A-11D-1576-08	TCGA-CH-5761-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb9b1203-fc4a-40c9-867a-436a54c61cf3	b8efa698-2592-447e-b038-3b4da4ebf6de	g.chr3:147130364G>A	ENST00000282928.4	+	2	1771	c.1042G>A	c.(1042-1044)Gac>Aac	p.D348N		NM_003412.3	NP_003403.2	Q15915	ZIC1_HUMAN	Zic family member 1	348					adult walking behavior (GO:0007628)|brain development (GO:0007420)|cell differentiation (GO:0030154)|inner ear morphogenesis (GO:0042472)|pattern specification process (GO:0007389)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of smoothened signaling pathway (GO:0008589)|spinal cord development (GO:0021510)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.D348N(2)		central_nervous_system(4)|cervix(1)|endometrium(2)|large_intestine(8)|lung(38)|ovary(1)|prostate(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	63						TAACAGCAGCGACCGCAAGAA	0.532																																						ENST00000282928.4																			2	Substitution - Missense(2)	p.D348N(2)	large_intestine(1)|prostate(1)	central_nervous_system(4)|cervix(1)|endometrium(2)|large_intestine(8)|lung(38)|ovary(1)|prostate(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	63						c.(1042-1044)Gac>Aac		Zic family member 1							123	101	109					3																	147130364		2203	4300	6503	SO:0001583	missense	7545				behavior|brain development|cell differentiation|inner ear morphogenesis|pattern specification process|positive regulation of protein import into nucleus|positive regulation of transcription, DNA-dependent|regulation of smoothened signaling pathway	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr3:147130364G>A	D76435	CCDS3136.1	3q24	2013-01-08	2011-05-19		ENSG00000152977	ENSG00000152977		"Zinc fingers, C2H2-type"	12872	protein-coding gene	gene with protein product		600470	"Zic family member 1 (odd-paired Drosophila homolog)", "Zic family member 1 (odd-paired homolog, Drosophila)"			8542595	Standard	NM_003412		Approved	ZIC, ZNF201	uc003ewe.3	Q15915	OTTHUMG00000159456	ENST00000282928.4:c.1042G>A	3.37:g.147130364G>A	ENSP00000282928:p.Asp348Asn						p.D348N	NM_003412.3	NP_003403.2	Q15915	ZIC1_HUMAN			2	1771	+			348					Q2M3N1	Missense_Mutation	SNP	ENST00000282928.4	37	c.1042G>A	CCDS3136.1	.	.	.	.	.	.	.	.	.	.	G	31	5.101396	0.94245	.	.	ENSG00000152977	ENST00000282928	T	0.07567	3.18	3.48	3.48	0.39840	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	U	0.000000	T	0.12050	0.0293	N	0.17248	0.465	0.80722	D	1	D	0.54047	0.964	P	0.55999	0.789	T	0.17592	-1.0364	10	0.87932	D	0	.	15.1592	0.72767	0.0:0.0:1.0:0.0	.	348	Q15915	ZIC1_HUMAN	N	348	ENSP00000282928:D348N	ENSP00000282928:D348N	D	+	1	0	ZIC1	148613054	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.515000	0.98015	1.772000	0.52199	0.462000	0.41574	GAC		0.532	ZIC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355497.1	NM_003412		39	208	0	0	0	0.840704	0	39	208					A	147130364	G	A	147130364	3	1	27	1	0	0	0	0	1	0	0	0	17675	1058	37	2	1048	2	ZIC1	3	147130364	Missense_Mutation	SNP	G	TCGA-CH-5761-01A-11D-1576-08	4356502	147130364	50892066	28	1276											
AADAC	13	broad.mit.edu	37	chr3	151545911	151545911	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atttctgggacttaaaattaGtcacagacttataaatcagt	15	14	6	6	0	3	1	2	0	1	1	3	2	3	2	0	1	0	0	0	1	6	5			TCGA-CH-5761-01A-11D-1576-08	TCGA-CH-5761-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb9b1203-fc4a-40c9-867a-436a54c61cf3	b8efa698-2592-447e-b038-3b4da4ebf6de	g.chr3:151545911G>T	ENST00000232892.7	+	5	1277	c.1151G>T	c.(1150-1152)aGt>aTt	p.S384I	RP11-454C18.2_ENST00000483843.2_RNA|RP11-454C18.2_ENST00000475855.1_RNA	NM_001086.2	NP_001077.2	P22760	AAAD_HUMAN	arylacetamide deacetylase	384					positive regulation of triglyceride catabolic process (GO:0010898)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	catalytic activity (GO:0003824)|deacetylase activity (GO:0019213)|lipase activity (GO:0016298)|serine hydrolase activity (GO:0017171)|triglyceride lipase activity (GO:0004806)	p.S384I(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|prostate(5)|skin(2)	19		Myeloproliferative disorder(1037;0.0255)|all_neural(597;0.112)	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)			CTTAAAATTAGTCACAGACTT	0.348																																					Ovarian(30;839 841 2699 32801 46334)	ENST00000232892.6																			1	Substitution - Missense(1)	p.S384I(1)	prostate(1)	NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|prostate(5)|skin(2)	19						c.(1150-1152)aGt>aTt		arylacetamide deacetylase							50	53	52					3																	151545911		2201	4298	6499	SO:0001583	missense	13				positive regulation of triglyceride catabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	carboxylesterase activity|deacetylase activity|serine hydrolase activity|triglyceride lipase activity	g.chr3:151545911G>T	L32179	CCDS33877.1	3q25.1	2014-03-18	2012-07-13		ENSG00000114771	ENSG00000114771	3.1.1.3		17	protein-coding gene	gene with protein product		600338	"arylacetamide deacetylase (esterase)"			8063807	Standard	XM_005247103		Approved	DAC, CES5A1	uc003eze.3	P22760	OTTHUMG00000159876	ENST00000232892.7:c.1151G>T	3.37:g.151545911G>T	ENSP00000232892:p.Ser384Ile					RP11-454C18.2_ENST00000483843.2_RNA|RP11-454C18.2_ENST00000475855.1_RNA	p.S384I	NM_001086.2	NP_001077.2	P22760	AAAD_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)		5	1277	+		Myeloproliferative disorder(1037;0.0255)|all_neural(597;0.112)	384					A8K3L3|D3DNJ6|Q8N1A9	Missense_Mutation	SNP	ENST00000232892.7	37	c.1151G>T	CCDS33877.1	.	.	.	.	.	.	.	.	.	.	G	10.92	1.487173	0.26686	.	.	ENSG00000114771	ENST00000232892	T	0.58358	0.34	4.79	-0.498	0.12019	.	0.705129	0.14127	N	0.339614	T	0.46092	0.1375	M	0.67569	2.06	0.09310	N	1	P	0.37158	0.585	B	0.35813	0.211	T	0.37888	-0.9686	10	0.87932	D	0	0.1918	7.2349	0.26064	0.0704:0.479:0.3323:0.1184	.	384	P22760	AAAD_HUMAN	I	384	ENSP00000232892:S384I	ENSP00000232892:S384I	S	+	2	0	AADAC	153028601	0.001000	0.12720	0.000000	0.03702	0.014000	0.08584	0.903000	0.28475	-0.491000	0.06697	0.591000	0.81541	AGT		0.348	AADAC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357883.2	NM_001086		59	111	1	0	1.4709e-25	0.870114	1.83863e-25	59	111					T	151545911	G	T	151545911	3	4	27	1	0	0	0	0	1	0	0	0	10	1029	36	5	1169	5	AADAC	3	151545911	Missense_Mutation	SNP	G	TCGA-CH-5761-01A-11D-1576-08	4415547	151545911	46476519	29	1277											
CLCN2	1181	broad.mit.edu	37	chr3	184075851	184075851	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttctttcagcaccactccccGcaagatggtcttcatctcag	8	12	6	15	1	5	1	3	0	3	1	7	1	6	1	3	1	1	2	3	1	1	3			TCGA-CH-5761-01A-11D-1576-08	TCGA-CH-5761-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb9b1203-fc4a-40c9-867a-436a54c61cf3	b8efa698-2592-447e-b038-3b4da4ebf6de	g.chr3:184075851G>T	ENST00000265593.4	-	5	685	c.514C>A	c.(514-516)Cgg>Agg	p.R172R	EIF2B5_ENST00000444495.1_Intron|CLCN2_ENST00000344937.7_Silent_p.R172R|CLCN2_ENST00000475279.1_5'Flank|CLCN2_ENST00000434054.2_Silent_p.R128R|CLCN2_ENST00000423355.2_5'UTR|CLCN2_ENST00000457512.1_Silent_p.R172R	NM_004366.5	NP_004357.3	P51788	CLCN2_HUMAN	chloride channel, voltage-sensitive 2	172					cell differentiation involved in salivary gland development (GO:0060689)|ion transmembrane transport (GO:0034220)|regulation of anion transport (GO:0044070)|retina development in camera-type eye (GO:0060041)|transmembrane transport (GO:0055085)|transport (GO:0006810)	chloride channel complex (GO:0034707)|plasma membrane (GO:0005886)	adenyl nucleotide binding (GO:0030554)|voltage-gated chloride channel activity (GO:0005247)			breast(2)|central_nervous_system(4)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	27	all_cancers(143;6.66e-11)|Ovarian(172;0.0339)		Epithelial(37;2.22e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		Lubiprostone(DB01046)	ACCACTCCCCGCAAGATGGTC	0.572																																						ENST00000265593.4																			0				breast(2)|central_nervous_system(4)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	27						c.(514-516)Cgg>Agg		chloride channel, voltage-sensitive 2	Lubiprostone(DB01046)						86	84	85					3																	184075851		2203	4300	6503	SO:0001819	synonymous_variant	1181					chloride channel complex	voltage-gated chloride channel activity	g.chr3:184075851G>T	S77770	CCDS3263.1, CCDS54690.1, CCDS54691.1, CCDS54692.1	3q27.1	2013-09-19	2012-02-23		ENSG00000114859	ENSG00000114859		"Ion channels / Chloride channels : Voltage-sensitive"	2020	protein-coding gene	gene with protein product		600570	"chloride channel 2"			7795595	Standard	NM_004366		Approved	CLC2, EJM6, ClC-2	uc003foi.4	P51788	OTTHUMG00000156747	ENST00000265593.4:c.514C>A	3.37:g.184075851G>T						CLCN2_ENST00000423355.2_5'UTR|CLCN2_ENST00000434054.2_Silent_p.R128R|CLCN2_ENST00000457512.1_Silent_p.R172R|CLCN2_ENST00000344937.7_Silent_p.R172R|EIF2B5_ENST00000444495.1_Intron	p.R172R	NM_004366.5	NP_004357.3	P51788	CLCN2_HUMAN	Epithelial(37;2.22e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		5	685	-	all_cancers(143;6.66e-11)|Ovarian(172;0.0339)		172					B4DQT9|B4DZ58|E9PBD9|E9PCD2|O14864|Q6IPA9|Q8WU13	Silent	SNP	ENST00000265593.4	37	c.514C>A	CCDS3263.1																																																																																				0.572	CLCN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000345571.1			4	231	1	0	0.00909568	0.150653	0.00999525	4	231					T	184075851	G	T	184075851	2	4	27	1	0	0	0	0	0	0	0	1	3463	1086	38	5		5	CLCN2	3	184075851	Silent	SNP	G	TCGA-CH-5761-01A-11D-1576-08	32529940	184075851	13946579	30	1278											
PPAT	5471	broad.mit.edu	37	chr4	57272694	57272694	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgagcagcatttaccaattcGccattatgtgccacagctat	11	11	7	12	2	0	0	0	0	0	0	1	1	0	0	3	0	5	3	3	0	4	5			TCGA-CH-5761-01A-11D-1576-08	TCGA-CH-5761-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb9b1203-fc4a-40c9-867a-436a54c61cf3	b8efa698-2592-447e-b038-3b4da4ebf6de	g.chr4:57272694G>A	ENST00000264220.2	-	3	506	c.369C>T	c.(367-369)ggC>ggT	p.G123G	PPAT_ENST00000507648.1_5'UTR	NM_002703.4	NP_002694.3	Q06203	PUR1_HUMAN	phosphoribosyl pyrophosphate amidotransferase	123	Glutamine amidotransferase type-2. {ECO:0000255|PROSITE-ProRule:PRU00609}.				'de novo' IMP biosynthetic process (GO:0006189)|cellular response to drug (GO:0035690)|cellular response to insulin stimulus (GO:0032869)|G1/S transition of mitotic cell cycle (GO:0000082)|glutamine catabolic process (GO:0006543)|kidney development (GO:0001822)|lactation (GO:0007595)|maternal process involved in female pregnancy (GO:0060135)|nucleobase-containing small molecule metabolic process (GO:0055086)|nucleoside metabolic process (GO:0009116)|organ regeneration (GO:0031100)|protein homotetramerization (GO:0051289)|purine nucleobase biosynthetic process (GO:0009113)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide biosynthetic process (GO:0006164)|purine ribonucleoside monophosphate biosynthetic process (GO:0009168)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	4 iron, 4 sulfur cluster binding (GO:0051539)|amidophosphoribosyltransferase activity (GO:0004044)|metal ion binding (GO:0046872)	p.G123G(1)		cervix(1)|endometrium(2)|large_intestine(6)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	20	Glioma(25;0.08)|all_neural(26;0.101)				Fluorouracil(DB00544)|L-Glutamine(DB00130)|Mercaptopurine(DB01033)	TTACCAATTCGCCATTATGTG	0.393																																						ENST00000264220.2																			1	Substitution - coding silent(1)	p.G123G(1)	prostate(1)	cervix(1)|endometrium(2)|large_intestine(6)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	20						c.(367-369)ggC>ggT		phosphoribosyl pyrophosphate amidotransferase	L-Glutamine(DB00130)|Thioguanine(DB00352)						160	136	144					4																	57272694		2203	4300	6503	SO:0001819	synonymous_variant	5471				glutamine metabolic process|nucleoside metabolic process|purine base biosynthetic process|purine ribonucleoside monophosphate biosynthetic process	cytosol	4 iron, 4 sulfur cluster binding|amidophosphoribosyltransferase activity|metal ion binding	g.chr4:57272694G>A		CCDS3505.1	4q12	2012-10-02			ENSG00000128059	ENSG00000128059	2.4.2.14		9238	protein-coding gene	gene with protein product		172450					Standard	NM_002703		Approved	GPAT, PRAT	uc003hbr.3	Q06203	OTTHUMG00000128842	ENST00000264220.2:c.369C>T	4.37:g.57272694G>A						PPAT_ENST00000507648.1_5'UTR	p.G123G	NM_002703.4	NP_002694.3	Q06203	PUR1_HUMAN			3	506	-	Glioma(25;0.08)|all_neural(26;0.101)		123			Glutamine amidotransferase type-2.			Silent	SNP	ENST00000264220.2	37	c.369C>T	CCDS3505.1																																																																																				0.393	PPAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250781.2	NM_002703		81	170	0	0	0	0.870114	0	81	170					A	57272694	G	A	57272694	2	1	27	1	0	0	0	0	0	0	0	1	12302	1074	38	1		1	PPAT	4	57272694	Silent	SNP	G	TCGA-CH-5761-01A-11D-1576-08		57272694	133881582	31	1279											
LPHN3	23284	broad.mit.edu	37	chr4	62598777	62598777	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acatagtaaagtttgatttgCggactaggataaagagtgga	15	11	12	3	1	0	2	0	1	0	1	0	5	0	5	0	3	1	2	0	3	6	6	rs548241584		TCGA-CH-5761-01A-11D-1576-08	TCGA-CH-5761-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb9b1203-fc4a-40c9-867a-436a54c61cf3	b8efa698-2592-447e-b038-3b4da4ebf6de	g.chr4:62598777C>T	ENST00000514591.1	+	7	1029	c.700C>T	c.(700-702)Cgg>Tgg	p.R234W	LPHN3_ENST00000506700.1_Missense_Mutation_p.R234W|LPHN3_ENST00000508693.1_Missense_Mutation_p.R302W|LPHN3_ENST00000506720.1_Missense_Mutation_p.R302W|LPHN3_ENST00000506746.1_Missense_Mutation_p.R302W|LPHN3_ENST00000512091.2_Missense_Mutation_p.R234W|LPHN3_ENST00000545650.1_Missense_Mutation_p.R234W|LPHN3_ENST00000514996.1_Missense_Mutation_p.R234W|LPHN3_ENST00000504896.1_Missense_Mutation_p.R234W|LPHN3_ENST00000509896.1_Missense_Mutation_p.R302W|LPHN3_ENST00000508946.1_Missense_Mutation_p.R234W|LPHN3_ENST00000511324.1_Missense_Mutation_p.R302W|LPHN3_ENST00000514157.1_Missense_Mutation_p.R234W|LPHN3_ENST00000507164.1_Missense_Mutation_p.R302W|LPHN3_ENST00000507625.1_Missense_Mutation_p.R302W			Q9HAR2	LPHN3_HUMAN	latrophilin 3	234	Olfactomedin-like. {ECO:0000255|PROSITE- ProRule:PRU00446}.				G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|G-protein coupled receptor activity (GO:0004930)	p.R234W(3)		breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						GTTTGATTTGCGGACTAGGAT	0.468													C|||	1	0.000199681	0	0	5008	,	,		19609	0		0.001	False		,,,				2504	0					ENST00000512091.1																			3	Substitution - Missense(3)	p.R234W(3)	prostate(3)	breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						c.(700-702)Cgg>Tgg		latrophilin 3							77	72	73					4																	62598777		1903	4117	6020	SO:0001583	missense	23284				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding	g.chr4:62598777C>T	AB018311	CCDS54768.1	4q13.1	2014-08-08				ENSG00000150471		"-", "GPCR / Class B : Orphans"	20974	protein-coding gene	gene with protein product						10994649	Standard	NM_015236		Approved	KIAA0768, LEC3	uc010ihh.3	Q9HAR2		ENST00000514591.1:c.700C>T	4.37:g.62598777C>T	ENSP00000422533:p.Arg234Trp					LPHN3_ENST00000508946.1_Missense_Mutation_p.R234W|LPHN3_ENST00000506700.1_Missense_Mutation_p.R234W|LPHN3_ENST00000514157.1_Missense_Mutation_p.R234W|LPHN3_ENST00000504896.1_Missense_Mutation_p.R234W|LPHN3_ENST00000509896.1_Missense_Mutation_p.R302W|LPHN3_ENST00000545650.1_Missense_Mutation_p.R234W|LPHN3_ENST00000514591.1_Missense_Mutation_p.R234W|LPHN3_ENST00000508693.1_Missense_Mutation_p.R302W|LPHN3_ENST00000507625.1_Missense_Mutation_p.R302W|LPHN3_ENST00000507164.1_Missense_Mutation_p.R302W|LPHN3_ENST00000506720.1_Missense_Mutation_p.R302W|LPHN3_ENST00000514996.1_Missense_Mutation_p.R234W|LPHN3_ENST00000506746.1_Missense_Mutation_p.R302W|LPHN3_ENST00000511324.1_Missense_Mutation_p.R302W	p.R234W			Q9HAR2	LPHN3_HUMAN			7	1447	+			234			Olfactomedin-like.		E9PE04|O94867|Q9NWK5	Missense_Mutation	SNP	ENST00000514591.1	37	c.700C>T	CCDS54768.1	.	.	.	.	.	.	.	.	.	.	C	15.73	2.919325	0.52546	.	.	ENSG00000150471	ENST00000512091;ENST00000514591;ENST00000509896;ENST00000511324;ENST00000506700;ENST00000534975;ENST00000545650;ENST00000295349;ENST00000280009;ENST00000507164;ENST00000508693;ENST00000507625;ENST00000514157;ENST00000504896;ENST00000508946;ENST00000506720;ENST00000506746;ENST00000514996	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.91407	-2.84;-2.84;-2.84;-2.84;-2.84;-2.84;-2.84;-2.84;-2.84;-2.84;-2.84;-2.84;-2.84;-2.84;-2.84	5.26	2.36	0.29203	.	0.000000	0.85682	D	0.000000	D	0.95271	0.8466	M	0.86420	2.815	0.51012	D	0.999909	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.998;0.992	D	0.94655	0.7843	10	0.87932	D	0	.	13.0725	0.59070	0.5698:0.4302:0.0:0.0	.	234;302;234	E9PE04;E7EN28;Q9HAR2-2	.;.;.	W	234;234;302;302;234;234;234;234;234;302;302;302;234;234;234;302;302;234	ENSP00000423388:R234W;ENSP00000422533:R234W;ENSP00000423787:R302W;ENSP00000425033:R302W;ENSP00000424120:R234W;ENSP00000439831:R234W;ENSP00000421476:R302W;ENSP00000424030:R302W;ENSP00000421372:R302W;ENSP00000425201:R234W;ENSP00000423434:R234W;ENSP00000421627:R234W;ENSP00000420931:R302W;ENSP00000425884:R302W;ENSP00000424258:R234W	ENSP00000280009:R234W	R	+	1	2	LPHN3	62281372	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.559000	0.36320	0.139000	0.18822	0.557000	0.71058	CGG		0.468	LPHN3-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000361765.1			15	41	0	0	0	0.500413	0	15	41					T	62598777	C	T	62598777	3	4	27	1	0	0	0	0	1	0	0	0	8917	759	27	1	718	1	LPHN3	4	62598777	Missense_Mutation	SNP	C	TCGA-CH-5761-01A-11D-1576-08	5326083	62598777	128555499	32	1280											
CLGN	1047	broad.mit.edu	37	chr4	141317358	141317358	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ttgggcaggttcactttcatCcctgtaaatacaacgtttta	10	15	7	9	1	2	0	2	0	0	0	3	0	3	0	1	2	2	4	1	2	5	7			TCGA-CH-5761-01A-11D-1576-08	TCGA-CH-5761-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb9b1203-fc4a-40c9-867a-436a54c61cf3	b8efa698-2592-447e-b038-3b4da4ebf6de	g.chr4:141317358C>T	ENST00000325617.5	-	9	1326	c.886G>A	c.(886-888)Gat>Aat	p.D296N	CLGN_ENST00000414773.1_Splice_Site_p.D296N|CLGN_ENST00000537281.1_Splice_Site_p.D296N	NM_004362.2	NP_004353.1	O14967	CLGN_HUMAN	calmegin	296					binding of sperm to zona pellucida (GO:0007339)|protein complex assembly (GO:0006461)|protein folding (GO:0006457)|single fertilization (GO:0007338)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)	calcium ion binding (GO:0005509)|unfolded protein binding (GO:0051082)	p.D296N(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(5)|ovary(2)|prostate(3)|skin(4)|urinary_tract(1)	25	all_hematologic(180;0.162)					TCACTTTCATCCCTGTAAATA	0.338																																						ENST00000325617.5																			1	Substitution - Missense(1)	p.D296N(1)	prostate(1)	breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(5)|ovary(2)|prostate(3)|skin(4)|urinary_tract(1)	25						c.e9-1		calmegin							140	132	135					4																	141317358		2203	4300	6503	SO:0001630	splice_region_variant	1047				protein folding	endoplasmic reticulum membrane|integral to membrane	calcium ion binding|unfolded protein binding	g.chr4:141317358C>T	D86322	CCDS3751.1	4q28.3-q31.1	2008-02-05			ENSG00000153132	ENSG00000153132			2060	protein-coding gene	gene with protein product		601858					Standard	NM_004362		Approved		uc003iii.3	O14967	OTTHUMG00000133414	ENST00000325617.5:c.885-1G>A	4.37:g.141317358C>T						CLGN_ENST00000537281.1_Splice_Site_p.D296_splice|CLGN_ENST00000414773.1_Splice_Site_p.D296_splice	p.D296_splice	NM_004362.2	NP_004353.1	O14967	CLGN_HUMAN			9	1326	-	all_hematologic(180;0.162)		296					B3KS90|B4DXV8|D3DNY8	Splice_Site	SNP	ENST00000325617.5	37	c.884_splice	CCDS3751.1	.	.	.	.	.	.	.	.	.	.	c	33	5.205872	0.95033	.	.	ENSG00000153132	ENST00000325617;ENST00000414773;ENST00000537281;ENST00000545667	T;T;T	0.55588	0.51;0.51;0.51	5.83	5.83	0.93111	Concanavalin A-like lectin/glucanase, subgroup (1);Calreticulin/calnexin, P (1);Calreticulin/calnexin, conserved site (1);	0.000000	0.85682	D	0.000000	T	0.71576	0.3356	M	0.73319	2.225	0.80722	D	1	D	0.63880	0.993	D	0.63381	0.914	T	0.70189	-0.4940	10	0.48119	T	0.1	-28.6323	20.143	0.98065	0.0:1.0:0.0:0.0	.	296	O14967	CLGN_HUMAN	N	296;296;296;213	ENSP00000326699:D296N;ENSP00000392782:D296N;ENSP00000439381:D296N	ENSP00000326699:D296N	D	-	1	0	CLGN	141536808	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	7.773000	0.85462	2.763000	0.94921	0.550000	0.68814	GAT		0.338	CLGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257272.2	NM_004362	Missense_Mutation	63	246	0	0	0	0.870114	0	63	246					T	141317358	C	T	141317358	5	4	27	1	0	0	0	0	0	0	1	0	3524	869	30	3	974	3	CLGN	4	141317358	Splice_Site	SNP	C	TCGA-CH-5761-01A-11D-1576-08	78718581	141317358	49836918	33	1281											
FGA	2243	broad.mit.edu	37	chr4	155507194	155507194	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aacagtcttagtaacggtttTagagcatgaacgacgcgtgg	12	10	12	7	4	1	2	0	1	1	1	1	3	1	2	0	2	4	3	0	2	5	4			TCGA-CH-5761-01A-11D-1576-08	TCGA-CH-5761-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb9b1203-fc4a-40c9-867a-436a54c61cf3	b8efa698-2592-447e-b038-3b4da4ebf6de	g.chr4:155507194T>G	ENST00000302053.3	-	5	1465	c.1387A>C	c.(1387-1389)Aaa>Caa	p.K463Q	FGA_ENST00000403106.3_Missense_Mutation_p.K463Q	NM_000508.3	NP_000499.1	P02671	FIBA_HUMAN	fibrinogen alpha chain	463					blood coagulation (GO:0007596)|blood coagulation, common pathway (GO:0072377)|cell-matrix adhesion (GO:0007160)|cellular protein complex assembly (GO:0043623)|extracellular matrix organization (GO:0030198)|negative regulation of blood coagulation, common pathway (GO:2000261)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of exocytosis (GO:0045921)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of peptide hormone secretion (GO:0090277)|positive regulation of protein secretion (GO:0050714)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive regulation of vasoconstriction (GO:0045907)|protein polymerization (GO:0051258)|response to calcium ion (GO:0051592)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|cell cortex (GO:0005938)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|plasma membrane (GO:0005886)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|vesicle (GO:0031982)	structural molecule activity (GO:0005198)	p.K463Q(1)		NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	73	all_hematologic(180;0.215)	Renal(120;0.0458)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)	GTAACGGTTTTAGAGCATGAA	0.468																																					NSCLC(143;340 1922 20892 22370 48145)	ENST00000302053.3																			1	Substitution - Missense(1)	p.K463Q(1)	prostate(1)	NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	73						c.(1387-1389)Aaa>Caa		fibrinogen alpha chain	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)						201	206	204					4																	155507194		2203	4300	6503	SO:0001583	missense	2243				platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding	g.chr4:155507194T>G		CCDS3787.1, CCDS47152.1	4q28	2014-09-17			ENSG00000171560	ENSG00000171560		"Fibrinogen C domain containing", "Endogenous ligands"	3661	protein-coding gene	gene with protein product		134820	"fibrinogen, A alpha polypeptide"				Standard	NM_000508		Approved		uc003iod.1	P02671	OTTHUMG00000150330	ENST00000302053.3:c.1387A>C	4.37:g.155507194T>G	ENSP00000306361:p.Lys463Gln					FGA_ENST00000403106.3_Missense_Mutation_p.K463Q	p.K463Q	NM_000508.3	NP_000499.1	P02671	FIBA_HUMAN			5	1465	-	all_hematologic(180;0.215)	Renal(120;0.0458)	463					A8K3E4|D3DP14|D3DP15|Q4QQH7|Q9BX62|Q9UCH2	Missense_Mutation	SNP	ENST00000302053.3	37	c.1387A>C	CCDS3787.1	.	.	.	.	.	.	.	.	.	.	T	20.8	4.051848	0.75960	.	.	ENSG00000171560	ENST00000302053;ENST00000403106	T;T	0.66995	-0.24;-0.24	5.99	5.99	0.97316	Fibrinogen alpha C domain (1);	14.608000	0.00166	N	0.000000	D	0.84206	0.5421	M	0.72118	2.19	0.29660	N	0.843324	D;D	0.71674	0.997;0.998	D;D	0.69479	0.94;0.964	T	0.67027	-0.5774	10	0.87932	D	0	.	15.0653	0.71989	0.0:0.0:0.0:1.0	.	463;463	P02671-2;P02671	.;FIBA_HUMAN	Q	463	ENSP00000306361:K463Q;ENSP00000385981:K463Q	ENSP00000306361:K463Q	K	-	1	0	FGA	155726644	1.000000	0.71417	0.028000	0.17463	0.698000	0.40448	4.180000	0.58296	2.291000	0.77112	0.533000	0.62120	AAA		0.468	FGA-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317593.1	NM_000508		133	312	0	0	0	0.870114	0	133	312					G	155507194	T	G	155507194	3	3	27	1	0	0	0	0	1	0	0	0	5830	1763	61	5	1265	5	FGA	4	155507194	Missense_Mutation	SNP	T	TCGA-CH-5761-01A-11D-1576-08	14189836	155507194	35647082	34	1282											
DEK	7913	broad.mit.edu	37	chr6	18258550	18258550	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cttaccttgtgcaattgtaaAtggctctctctgtaaggaag	10	14	9	8	0	2	0	0	0	2	0	3	1	2	1	1	2	2	4	1	2	6	5			TCGA-CH-5761-01A-11D-1576-08	TCGA-CH-5761-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb9b1203-fc4a-40c9-867a-436a54c61cf3	b8efa698-2592-447e-b038-3b4da4ebf6de	g.chr6:18258550A>C	ENST00000397239.3	-	3	679	c.232T>G	c.(232-234)Ttt>Gtt	p.F78V	DEK_ENST00000244776.7_Intron	NM_003472.3	NP_003463.1	P35659	DEK_HUMAN	DEK proto-oncogene	78					chromatin modification (GO:0016568)|regulation of double-strand break repair (GO:2000779)|regulation of double-strand break repair via nonhomologous end joining (GO:2001032)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|transcription from RNA polymerase II promoter (GO:0006366)|viral genome replication (GO:0019079)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone binding (GO:0042393)|poly(A) RNA binding (GO:0044822)	p.F78V(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	7	Ovarian(93;0.00769)|Breast(50;0.0495)	all_hematologic(90;0.053)	OV - Ovarian serous cystadenocarcinoma(7;0.00291)|all cancers(50;0.031)|Epithelial(50;0.0332)			GCAATTGTAAATGGCTCTCTC	0.363			T	NUP214	AML																																	ENST00000397239.3				Dom	yes		6	6p23	7913	T	DEK oncogene (DNA binding)			L	NUP214		AML		1	Substitution - Missense(1)	p.F78V(1)	prostate(1)	endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	7						c.(232-234)Ttt>Gtt		DEK oncogene							136	127	130					6																	18258550		2203	4300	6503	SO:0001583	missense	7913				chromatin modification|regulation of transcription from RNA polymerase II promoter|signal transduction|transcription from RNA polymerase II promoter|viral genome replication	nucleus	DNA binding|histone binding	g.chr6:18258550A>C	X64229	CCDS34344.1, CCDS47382.1	6p23	2014-06-25	2014-06-25		ENSG00000124795	ENSG00000124795			2768	protein-coding gene	gene with protein product		125264	"DEK oncogene (DNA binding)", "DEK oncogene"			1549122	Standard	NM_003472		Approved	D6S231E	uc003ncr.1	P35659	OTTHUMG00000014319	ENST00000397239.3:c.232T>G	6.37:g.18258550A>C	ENSP00000380414:p.Phe78Val					DEK_ENST00000244776.7_Intron	p.F78V	NM_003472.3	NP_003463.1	P35659	DEK_HUMAN	OV - Ovarian serous cystadenocarcinoma(7;0.00291)|all cancers(50;0.031)|Epithelial(50;0.0332)		3	679	-	Ovarian(93;0.00769)|Breast(50;0.0495)	all_hematologic(90;0.053)	78					B2R6K6|B4DN37|Q5TGV4|Q5TGV5	Missense_Mutation	SNP	ENST00000397239.3	37	c.232T>G	CCDS34344.1	.	.	.	.	.	.	.	.	.	.	A	9.748	1.166811	0.21621	.	.	ENSG00000124795	ENST00000397239;ENST00000503715;ENST00000515742	T;T;T	0.47177	0.85;0.87;0.95	5.84	5.84	0.93424	.	0.159331	0.64402	D	0.000018	T	0.41190	0.1148	L	0.37750	1.13	0.80722	D	1	D	0.57899	0.981	D	0.67900	0.954	T	0.33777	-0.9855	10	0.07990	T	0.79	-11.9348	14.7839	0.69787	1.0:0.0:0.0:0.0	.	78	P35659	DEK_HUMAN	V	78;11;83	ENSP00000380414:F78V;ENSP00000425399:F11V;ENSP00000423553:F83V	ENSP00000380414:F78V	F	-	1	0	DEK	18366529	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.634000	0.67833	2.220000	0.72140	0.482000	0.46254	TTT		0.363	DEK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039962.4			56	186	0	0	0	0.870114	0	56	186					C	18258550	A	C	18258550	3	2	27	1	0	0	0	0	1	0	0	0	4424	101	4	5	931	5	DEK	6	18258550	Missense_Mutation	SNP	A	TCGA-CH-5761-01A-11D-1576-08		18258550	152856517	35	1283											
SLC35F1	222553	broad.mit.edu	37	chr6	118598702	118598702	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ttgaaggtgccctgggactgGcaaataggtaaggagttggc	10	9	16	6	0	0	1	0	1	0	0	0	3	0	3	1	6	1	3	1	6	4	4			TCGA-CH-5761-01A-11D-1576-08	TCGA-CH-5761-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb9b1203-fc4a-40c9-867a-436a54c61cf3	b8efa698-2592-447e-b038-3b4da4ebf6de	g.chr6:118598702G>A	ENST00000360388.4	+	6	1041	c.840G>A	c.(838-840)tgG>tgA	p.W280*		NM_001029858.3	NP_001025029.2	Q5T1Q4	S35F1_HUMAN	solute carrier family 35, member F1	280					transport (GO:0006810)	integral component of membrane (GO:0016021)		p.W280*(1)		breast(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(226;0.217)		CCTGGGACTGGCAAATAGGTA	0.433																																						ENST00000360388.4																			1	Substitution - Nonsense(1)	p.W280*(1)	lung(1)	breast(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36						c.(838-840)tgG>tgA		solute carrier family 35, member F1							196	181	186					6																	118598702		2203	4300	6503	SO:0001587	stop_gained	222553				transport	integral to membrane		g.chr6:118598702G>A	BC028615	CCDS34524.1	6q22.31	2013-05-22			ENSG00000196376	ENSG00000196376		"Solute carriers"	21483	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 169"	C6orf169			Standard	NM_001029858		Approved	dJ230I3.1	uc003pxx.4	Q5T1Q4	OTTHUMG00000015460	ENST00000360388.4:c.840G>A	6.37:g.118598702G>A	ENSP00000353557:p.Trp280*						p.W280*	NM_001029858.3	NP_001025029.2	Q5T1Q4	S35F1_HUMAN		GBM - Glioblastoma multiforme(226;0.217)	6	1041	+			280					E1P564|Q1RMG1|Q4G0U9|Q4G167|Q6N007	Nonsense_Mutation	SNP	ENST00000360388.4	37	c.840G>A	CCDS34524.1	.	.	.	.	.	.	.	.	.	.	G	37	6.267406	0.97426	.	.	ENSG00000196376	ENST00000360388	.	.	.	4.75	4.75	0.60458	.	0.128103	0.56097	D	0.000025	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.36615	T	0.2	-3.8629	18.2865	0.90115	0.0:0.0:1.0:0.0	.	.	.	.	X	280	.	ENSP00000353557:W280X	W	+	3	0	SLC35F1	118705395	1.000000	0.71417	1.000000	0.80357	0.864000	0.49448	8.727000	0.91480	2.621000	0.88768	0.650000	0.86243	TGG		0.433	SLC35F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041991.2	XM_167044		4	242	0	0	0	0.217242	0	4	242					A	118598702	G	A	118598702	4	1	27	1	0	0	0	0	0	1	0	0	14588	1212	42	3	862	3	SLC35F1	6	118598702	Nonsense_Mutation	SNP	G	TCGA-CH-5761-01A-11D-1576-08	100340152	118598702	52516365	36	1284											
INTS1	26173	broad.mit.edu	37	chr7	1538175	1538175	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcccaggttgtccttgtgcGcgctcagcagctccctgggt	3	11	13	14	2	1	0	1	0	0	0	3	0	3	0	3	2	4	4	3	2	0	2	rs377546188		TCGA-CH-5761-01A-11D-1576-08	TCGA-CH-5761-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb9b1203-fc4a-40c9-867a-436a54c61cf3	b8efa698-2592-447e-b038-3b4da4ebf6de	g.chr7:1538175G>A	ENST00000404767.3	-	10	1383	c.1298C>T	c.(1297-1299)gCg>gTg	p.A433V	INTS1_ENST00000493531.1_5'Flank|INTS1_ENST00000389470.4_Missense_Mutation_p.A561V	NM_001080453.2	NP_001073922.2	Q8N201	INT1_HUMAN	integrator complex subunit 1	433					inner cell mass cell proliferation (GO:0001833)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|snRNA processing (GO:0016180)|U2 snRNA 3'-end processing (GO:0034474)	integral component of membrane (GO:0016021)|integrator complex (GO:0032039)|membrane (GO:0016020)		p.A561V(1)		autonomic_ganglia(1)|cervix(1)|endometrium(14)|kidney(3)|large_intestine(7)|lung(24)|ovary(1)|prostate(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	62		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15)		GTCCTTGTGCGCGCTCAGCAG	0.647																																						ENST00000389470.4																			1	Substitution - Missense(1)	p.A561V(1)	prostate(1)	autonomic_ganglia(1)|cervix(1)|endometrium(14)|kidney(3)|large_intestine(7)|lung(24)|ovary(1)|prostate(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	62						c.(1681-1683)gCg>gTg		integrator complex subunit 1			VAL/ALA	1,4269		0,1,2134	82	94	90		1298	4.8	0.1	7		90	0,8492		0,0,4246	no	missense	INTS1	NM_001080453.2	64	0,1,6380	AA,AG,GG		0.0,0.0234,0.0078	benign	433/2191	1538175	1,12761	2135	4246	6381	SO:0001583	missense	26173				snRNA processing	integral to membrane|integrator complex|nuclear membrane		g.chr7:1538175G>A	AB037861	CCDS47526.1	7p22.3	2009-11-06			ENSG00000164880	ENSG00000164880			24555	protein-coding gene	gene with protein product		611345				16239144	Standard	NM_001080453		Approved	DKFZp586J0619, KIAA1440, INT1, NET28	uc003skn.2	Q8N201	OTTHUMG00000151449	ENST00000404767.3:c.1298C>T	7.37:g.1538175G>A	ENSP00000385722:p.Ala433Val					INTS1_ENST00000404767.3_Missense_Mutation_p.A433V	p.A561V			Q8N201	INT1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15)	11	1681	-		Ovarian(82;0.0253)	433					A6NJ44|Q6NT70|Q6UX74|Q8WV40|Q96D36|Q9NTD1|Q9P2A8|Q9Y3W8	Missense_Mutation	SNP	ENST00000404767.3	37	c.1682C>T	CCDS47526.1	.	.	.	.	.	.	.	.	.	.	G	13.42	2.231768	0.39399	2.34E-4	0.0	ENSG00000164880	ENST00000404767;ENST00000389470	T;T	0.47177	0.85;0.86	4.84	4.84	0.62591	.	0.000000	0.85682	D	0.000000	T	0.42040	0.1185	L	0.40543	1.245	0.80722	D	1	P;P	0.39352	0.669;0.669	B;B	0.38106	0.265;0.215	T	0.28106	-1.0054	10	0.27785	T	0.31	.	17.9148	0.88945	0.0:0.0:1.0:0.0	.	561;433	A4D212;Q8N201	.;INT1_HUMAN	V	433;561	ENSP00000385722:A433V;ENSP00000374121:A561V	ENSP00000374121:A561V	A	-	2	0	INTS1	1504701	1.000000	0.71417	0.133000	0.22050	0.122000	0.20287	9.481000	0.97933	2.216000	0.71823	0.591000	0.81541	GCG		0.647	INTS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323683.1			18	22	0	0	0	0.575678	0	18	22					A	1538175	G	A	1538175	3	1	27	1	0	0	0	0	1	0	0	0	7775	1087	38	1	5430	1	INTS1	7	1538175	Missense_Mutation	SNP	G	TCGA-CH-5761-01A-11D-1576-08		1538175	157600488	37	1285											
ZAN	7455	broad.mit.edu	37	chr7	100350275	100350275	+	RNA	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctcaccatccccatggaaaaAcccaccatctccacagaaaa	16	5	3	17	0	2	1	1	0	1	1	4	2	3	2	6	1	1	0	6	1	4	0			TCGA-CH-5761-01A-11D-1576-08	TCGA-CH-5761-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb9b1203-fc4a-40c9-867a-436a54c61cf3	b8efa698-2592-447e-b038-3b4da4ebf6de	g.chr7:100350275A>G	ENST00000348028.3	+	0	2712				ZAN_ENST00000449052.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000542585.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000421100.1_RNA			Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida (GO:0007339)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.K849K(3)		NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			CCATGGAAAAACCCACCATCT	0.507																																						ENST00000542585.1																			3	Substitution - coding silent(3)	p.K849K(3)	prostate(3)	NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139								zonadhesin (gene/pseudogene)							273	312	300					7																	100350275		1868	4118	5986			7455				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane		g.chr7:100350275A>G	U83191		7q22.1	2013-10-10	2013-10-10		ENSG00000146839	ENSG00000146839			12857	protein-coding gene	gene with protein product		602372	"zonadhesin"			9799793, 17033959	Standard	NM_003386		Approved		uc003uwk.3	Q9Y493	OTTHUMG00000157037		7.37:g.100350275A>G						ZAN_ENST00000421100.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000546213.1_RNA		NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	STAD - Stomach adenocarcinoma(171;0.19)		0	2695	+	Lung NSC(181;0.041)|all_lung(186;0.0581)							A0FKC8|D6W5W4|O00218|Q96L85|Q96L86|Q96L87|Q96L88|Q96L89|Q96L90|Q9BXN9|Q9BZ83|Q9BZ84|Q9BZ85|Q9BZ86|Q9BZ87|Q9BZ88	RNA	SNP	ENST00000348028.3	37																																																																																						0.507	ZAN-006	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000347214.1	NM_003386		39	71	0	0	0	0.834066	0	39	71					G	100350275	A	G	100350275	1	3	27	0	1	0	0	0	0	0	0	0	17510	40	2	4		4	ZAN	7	100350275	RNA	SNP	A	TCGA-CH-5761-01A-11D-1576-08	98812100	100350275	58788388	38	1286											
KCND2	3751	broad.mit.edu	37	chr7	120381668	120381668	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcaaacggaatggtttactCagtaatcagctgcaggtaca	14	9	10	8	1	2	0	2	0	0	0	2	1	2	1	0	3	6	6	0	3	5	4			TCGA-CH-5761-01A-11D-1576-08	TCGA-CH-5761-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb9b1203-fc4a-40c9-867a-436a54c61cf3	b8efa698-2592-447e-b038-3b4da4ebf6de	g.chr7:120381668C>A	ENST00000331113.4	+	3	2324	c.1359C>A	c.(1357-1359)ctC>ctA	p.L453L		NM_012281.2	NP_036413.1	Q9NZV8	KCND2_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 2	453					action potential (GO:0001508)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	dendritic spine (GO:0043197)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	A-type (transient outward) potassium channel activity (GO:0005250)|metal ion binding (GO:0046872)|voltage-gated potassium channel activity (GO:0005249)	p.L453L(1)		NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(35)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	75	all_neural(327;0.117)				Amitriptyline(DB00321)|Dalfampridine(DB06637)|Disopyramide(DB00280)|Imipramine(DB00458)	ATGGTTTACTCAGTAATCAGC	0.358																																						ENST00000331113.4																			1	Substitution - coding silent(1)	p.L453L(1)	prostate(1)	NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(35)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	75						c.(1357-1359)ctC>ctA		potassium voltage-gated channel, Shal-related subfamily, member 2							89	95	93					7																	120381668		2203	4300	6503	SO:0001819	synonymous_variant	3751				regulation of action potential|synaptic transmission	cell surface|dendritic spine	metal ion binding	g.chr7:120381668C>A	AJ010969	CCDS5776.1	7q31	2012-07-05			ENSG00000184408	ENSG00000184408		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6238	protein-coding gene	gene with protein product		605410				10551270, 16382104	Standard	NM_012281		Approved	Kv4.2, RK5, KIAA1044	uc003vjj.1	Q9NZV8	OTTHUMG00000156989	ENST00000331113.4:c.1359C>A	7.37:g.120381668C>A							p.L453L	NM_012281.2	NP_036413.1	Q9NZV8	KCND2_HUMAN			3	2324	+	all_neural(327;0.117)		453					O95012|O95021|Q2TBD3|Q9UBY7|Q9UN98|Q9UNH9	Silent	SNP	ENST00000331113.4	37	c.1359C>A	CCDS5776.1	.	.	.	.	.	.	.	.	.	.	C	8.647	0.897368	0.17686	.	.	ENSG00000184408	ENST00000425288	.	.	.	5.11	2.04	0.26737	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.3719	0.16144	0.1106:0.4649:0.3374:0.087	.	.	.	.	X	39	.	.	S	+	2	0	KCND2	120168904	0.998000	0.40836	1.000000	0.80357	0.992000	0.81027	0.395000	0.20850	1.114000	0.41781	0.650000	0.86243	TCA		0.358	KCND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346996.1	NM_012281		30	48	1	0	1.7881e-09	0.729181	2.15434e-09	30	48					A	120381668	C	A	120381668	2	1	27	1	0	0	0	0	0	0	0	1	8019	813	29	5		5	KCND2	7	120381668	Silent	SNP	C	TCGA-CH-5761-01A-11D-1576-08	20031393	120381668	38756995	39	1287											
MGAM	8972	broad.mit.edu	37	chr7	141754596	141754596	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggtatgaagttccagtccctCtgaacatacccagcatgcca	11	9	8	13	0	1	2	0	2	1	0	3	2	3	2	4	1	4	3	4	1	4	3			TCGA-CH-5761-01A-11D-1576-08	TCGA-CH-5761-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb9b1203-fc4a-40c9-867a-436a54c61cf3	b8efa698-2592-447e-b038-3b4da4ebf6de	g.chr7:141754596C>T	ENST00000549489.2	+	27	3297	c.3202C>T	c.(3202-3204)Ctg>Ttg	p.L1068L	MGAM_ENST00000475668.2_Silent_p.L1068L	NM_004668.2	NP_004659.2	O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	1068	Glucoamylase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)	p.L1068L(4)		cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	TCCAGTCCCTCTGAACATACC	0.433																																						ENST00000475668.2																			4	Substitution - coding silent(4)	p.L1068L(4)	prostate(4)	cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13						c.(3202-3204)Ctg>Ttg		maltase-glucoamylase (alpha-glucosidase)	Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)						159	150	153					7																	141754596		1906	4114	6020	SO:0001819	synonymous_variant	8972				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity	g.chr7:141754596C>T	AF016833	CCDS47727.1	7q34	2012-10-03			ENSG00000257335	ENSG00000257335			7043	protein-coding gene	gene with protein product		154360				9446624	Standard	NM_004668		Approved	MGA	uc003vwy.3	O43451	OTTHUMG00000158395	ENST00000549489.2:c.3202C>T	7.37:g.141754596C>T						MGAM_ENST00000549489.2_Silent_p.L1068L	p.L1068L			O43451	MGA_HUMAN			27	3256	+	Melanoma(164;0.0272)		1068			Glucoamylase.		Q0VAX6|Q75ME7|Q86UM5	Silent	SNP	ENST00000549489.2	37	c.3202C>T	CCDS47727.1																																																																																				0.433	MGAM-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000351244.3			118	84	0	0	0	0.870114	0	118	84					T	141754596	C	T	141754596	2	4	27	1	0	0	0	0	0	0	0	1	9541	912	32	3		3	MGAM	7	141754596	Silent	SNP	C	TCGA-CH-5761-01A-11D-1576-08	21372928	141754596	17384067	40	1288											
C5	727	broad.mit.edu	37	chr9	123805397	123805397	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tttgatacaacttccaaataCacataagaaactgggttttg	15	13	6	7	0	0	2	0	1	0	1	1	2	1	2	1	1	4	1	1	1	6	7	rs151322743	byFrequency	TCGA-CH-5761-01A-11D-1576-08	TCGA-CH-5761-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb9b1203-fc4a-40c9-867a-436a54c61cf3	b8efa698-2592-447e-b038-3b4da4ebf6de	g.chr9:123805397C>T	ENST00000223642.1	-	3	335	c.306G>A	c.(304-306)gtG>gtA	p.V102V		NM_001735.2	NP_001726.2	P01031	CO5_HUMAN	complement component 5	102					activation of MAPK activity (GO:0000187)|cell chemotaxis (GO:0060326)|cell surface receptor signaling pathway (GO:0007166)|cellular calcium ion homeostasis (GO:0006874)|chemotaxis (GO:0006935)|complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|in utero embryonic development (GO:0001701)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|leukocyte migration involved in inflammatory response (GO:0002523)|negative regulation of dopamine secretion (GO:0033602)|negative regulation of macrophage chemotaxis (GO:0010760)|negative regulation of norepinephrine secretion (GO:0010700)|positive regulation of angiogenesis (GO:0045766)|positive regulation of chemokine secretion (GO:0090197)|positive regulation of chemotaxis (GO:0050921)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of complement activation (GO:0030449)|response to stress (GO:0006950)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane attack complex (GO:0005579)	chemokine activity (GO:0008009)|endopeptidase inhibitor activity (GO:0004866)|receptor binding (GO:0005102)	p.V102V(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(14)|lung(5)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(323;4.98e-53)|GBM - Glioblastoma multiforme(294;0.0242)	Eculizumab(DB01257)|Intravenous Immunoglobulin(DB00028)	CTTCCAAATACACATAAGAAA	0.299													C|||	5	0.000998403	0.0038	0	5008	,	,		16240	0		0	False		,,,				2504	0					ENST00000223642.1																			1	Substitution - coding silent(1)	p.V102V(1)	prostate(1)	breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(14)|lung(5)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						c.(304-306)gtG>gtA		complement component 5	Eculizumab(DB01257)	C		14,4392	21.2+/-45.6	0,14,2189	81	79	79		306	0.4	1	9	dbSNP_134	79	0,8600		0,0,4300	no	coding-synonymous	C5	NM_001735.2		0,14,6489	TT,TC,CC		0.0,0.3177,0.1076		102/1677	123805397	14,12992	2203	4300	6503	SO:0001819	synonymous_variant	727				activation of MAPK activity|chemotaxis|complement activation, alternative pathway|complement activation, classical pathway|cytolysis|G-protein coupled receptor protein signaling pathway|inflammatory response|negative regulation of macrophage chemotaxis|positive regulation of chemokine secretion|positive regulation vascular endothelial growth factor production	extracellular space|membrane attack complex	chemokine activity|endopeptidase inhibitor activity	g.chr9:123805397C>T	M57729	CCDS6826.1	9q33-q34	2014-09-17			ENSG00000106804	ENSG00000106804		"Complement system", "Endogenous ligands"	1331	protein-coding gene	gene with protein product	"prepro-C5", "C5a anaphylatoxin"	120900					Standard	NM_001735		Approved	CPAMD4, C5a, C5b	uc004bkv.3	P01031	OTTHUMG00000020579	ENST00000223642.1:c.306G>A	9.37:g.123805397C>T							p.V102V	NM_001735.2	NP_001726.2	P01031	CO5_HUMAN		OV - Ovarian serous cystadenocarcinoma(323;4.98e-53)|GBM - Glioblastoma multiforme(294;0.0242)	3	335	-			102					Q14CJ0|Q27I61	Silent	SNP	ENST00000223642.1	37	c.306G>A	CCDS6826.1																																																																																				0.299	C5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053844.1	NM_001735		23	80	0	0	0	0.624587	0	23	80					T	123805397	C	T	123805397	2	4	27	1	0	0	0	0	0	0	0	1	2280	465	17	3		3	C5	9	123805397	Silent	SNP	C	TCGA-CH-5761-01A-11D-1576-08		123805397	17408034	41	1289											
GAPVD1	26130	broad.mit.edu	37	chr9	128122940	128122940	+	Frame_Shift_Del	DEL	C	C	-																															tatgaacctcctgagcctggCcaatgaggactctgtccctg																										TCGA-CH-5761-01A-11D-1576-08	TCGA-CH-5761-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb9b1203-fc4a-40c9-867a-436a54c61cf3	b8efa698-2592-447e-b038-3b4da4ebf6de	g.chr9:128122940delC	ENST00000495955.1	+	27	4522	c.4232delC	c.(4231-4233)gccfs	p.A1411fs	GAPVD1_ENST00000394105.2_Frame_Shift_Del_p.A1420fs|GAPVD1_ENST00000470056.1_Frame_Shift_Del_p.A1366fs|GAPVD1_ENST00000394083.2_Frame_Shift_Del_p.A1345fs|GAPVD1_ENST00000312123.9_Frame_Shift_Del_p.A1372fs|GAPVD1_ENST00000394104.2_Frame_Shift_Del_p.A1411fs|GAPVD1_ENST00000297933.6_Frame_Shift_Del_p.A1393fs|GAPVD1_ENST00000265956.4_Frame_Shift_Del_p.A1385fs			Q14C86	GAPD1_HUMAN	GTPase activating protein and VPS9 domains 1	1411	VPS9. {ECO:0000255|PROSITE- ProRule:PRU00550}.				endocytosis (GO:0006897)|positive regulation of GTPase activity (GO:0043547)|regulation of protein transport (GO:0051223)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)	cytosol (GO:0005829)|endosome (GO:0005768)|membrane (GO:0016020)	GTPase activating protein binding (GO:0032794)|GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)			central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(10)|lung(11)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						CTGAGCCTGGCCAATGAGGAC	0.468																																						ENST00000470056.1																			0				central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(10)|lung(11)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						c.(4096-4098)gcfs		GTPase activating protein and VPS9 domains 1							241	197	212					9																	128122940		2203	4300	6503	SO:0001589	frameshift_variant	26130				endocytosis|regulation of protein transport|regulation of small GTPase mediated signal transduction|signal transduction	cytosol|endosome|membrane	GTPase activating protein binding|GTPase activator activity|guanyl-nucleotide exchange factor activity	g.chr9:128122940delC		CCDS65130.1, CCDS65131.1, CCDS65132.1	9q34.11	2008-02-05			ENSG00000165219	ENSG00000165219			23375	protein-coding gene	gene with protein product		611714					Standard	XM_005251901		Approved	DKFZP434C212, KIAA1521	uc004bpr.3	Q14C86	OTTHUMG00000020678	ENST00000495955.1:c.4232delC	9.37:g.128122940delC	ENSP00000419063:p.Ala1411fs					GAPVD1_ENST00000495955.1_Frame_Shift_Del_p.A1411fs|GAPVD1_ENST00000297933.6_Frame_Shift_Del_p.A1393fs|GAPVD1_ENST00000312123.9_Frame_Shift_Del_p.A1372fs|GAPVD1_ENST00000394083.2_Frame_Shift_Del_p.A1345fs|GAPVD1_ENST00000394105.2_Frame_Shift_Del_p.A1420fs|GAPVD1_ENST00000394104.2_Frame_Shift_Del_p.A1411fs|GAPVD1_ENST00000265956.4_Frame_Shift_Del_p.A1385fs	p.A1366fs			Q14C86	GAPD1_HUMAN			24	4257	+			1411			VPS9.		A8MYK3|B0QZ62|B0QZ63|B0QZ64|Q14C76|Q2Q1W1|Q8ND92|Q8WU86|Q96CZ4|Q9NXQ1|Q9P207|Q9Y4N0	Frame_Shift_Del	DEL	ENST00000495955.1	37	c.4097delC																																																																																					0.468	GAPVD1-014	KNOWN	alternative_5_UTR|basic	protein_coding	protein_coding	OTTHUMT00000355644.1			93	200						93	200	---	---	---	---	-	128122940	C	-	128122940	7	5	27	1	0	1	0	1	0	0	0	0	6239	739	26	0	4357	0	GAPVD1	9	128122940	Frame_Shift_Del	DEL	C	TCGA-CH-5761-01A-11D-1576-08	4317543	128122940	13090491	42	1290											
TPRN	286262	broad.mit.edu	37	chr9	140086590	140086590	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atacagggctggctcgctgcGgaagtccgagaggtcattct	8	9	14	10	3	2	1	1	0	1	1	4	3	3	2	1	4	2	3	1	4	2	2			TCGA-CH-5761-01A-11D-1576-08	TCGA-CH-5761-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb9b1203-fc4a-40c9-867a-436a54c61cf3	b8efa698-2592-447e-b038-3b4da4ebf6de	g.chr9:140086590G>A	ENST00000409012.4	-	4	2196	c.2110C>T	c.(2110-2112)Cgc>Tgc	p.R704C	TPRN_ENST00000541945.1_5'Flank|TPRN_ENST00000321773.2_Missense_Mutation_p.R671C	NM_001128228.2	NP_001121700.2	Q4KMQ1	TPRN_HUMAN	taperin	704					sensory perception of sound (GO:0007605)	stereocilium (GO:0032420)		p.R426C(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(2)	8						GGCTCGCTGCGGAAGTCCGAG	0.627																																						ENST00000409012.4																			1	Substitution - Missense(1)	p.R426C(1)	prostate(1)	breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(2)	8						c.(2110-2112)Cgc>Tgc		taperin							53	60	58					9																	140086590		2203	4300	6503	SO:0001583	missense	286262				sensory perception of sound	stereocilium		g.chr9:140086590G>A	AK074735	CCDS56594.1	9q34.3	2011-01-06	2010-03-24	2010-03-24	ENSG00000176058	ENSG00000176058			26894	protein-coding gene	gene with protein product		613354	"chromosome 9 open reading frame 75", "deafness, autosomal recessive 79"	C9orf75, DFNB79		20170898, 20170899	Standard	NM_001128228		Approved	FLJ90254	uc004clu.3	Q4KMQ1	OTTHUMG00000020984	ENST00000409012.4:c.2110C>T	9.37:g.140086590G>A	ENSP00000387100:p.Arg704Cys					TPRN_ENST00000321773.2_Missense_Mutation_p.R671C	p.R704C	NM_001128228.2	NP_001121700.2	Q4KMQ1	TPRN_HUMAN			4	2196	-			704					B7ZKU5|Q5VSG5|Q5VSG6|Q6IPP2|Q8NCH2	Missense_Mutation	SNP	ENST00000409012.4	37	c.2110C>T	CCDS56594.1	.	.	.	.	.	.	.	.	.	.	G	16.83	3.230771	0.58777	.	.	ENSG00000176058	ENST00000333046;ENST00000409012;ENST00000321773	.	.	.	4.78	4.78	0.61160	.	0.066523	0.64402	D	0.000019	T	0.64605	0.2613	L	0.32530	0.975	0.46317	D	0.998986	D	0.89917	1.0	D	0.68621	0.959	T	0.67952	-0.5537	9	0.72032	D	0.01	-16.4157	13.2896	0.60264	0.0:0.0:1.0:0.0	.	704	Q4KMQ1	TPRN_HUMAN	C	530;704;671	.	ENSP00000313704:R671C	R	-	1	0	TPRN	139206411	1.000000	0.71417	1.000000	0.80357	0.603000	0.37013	2.904000	0.48719	2.213000	0.71641	0.462000	0.41574	CGC		0.627	TPRN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055323.3	NM_173691		18	40	0	0	0	0.804634	0	18	40					A	140086590	G	A	140086590	3	1	27	1	0	0	0	0	1	0	0	0	16418	1116	39	2	29	2	TPRN	9	140086590	Missense_Mutation	SNP	G	TCGA-CH-5761-01A-11D-1576-08	11963650	140086590	1126841	43	1291											
MLLT10	8028	broad.mit.edu	37	chr10	22022438	22022438	+	Frame_Shift_Del	DEL	A	A	-																															cttttattattctagctcctActactgattccttgaacagc																										TCGA-CH-5761-01A-11D-1576-08	TCGA-CH-5761-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb9b1203-fc4a-40c9-867a-436a54c61cf3	b8efa698-2592-447e-b038-3b4da4ebf6de	g.chr10:22022438delA	ENST00000307729.7	+	19	2591	c.2413delA	c.(2413-2415)actfs	p.T806fs	MLLT10_ENST00000377072.3_Frame_Shift_Del_p.T822fs|MLLT10_ENST00000446906.2_Frame_Shift_Del_p.T806fs|MLLT10_ENST00000377059.3_Frame_Shift_Del_p.T806fs			P55197	AF10_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 10	806					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			NS(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6						TCTAGCTCCTACTACTGATTC	0.318			T	"MLL, PICALM, CDK6"	AL																																	ENST00000377072.3				Dom	yes		10	10p12	8028	T	"myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 10 (AF10)"			L	"MLL, PICALM, CDK6"		AL		0				NS(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6						c.(2461-2463)ctfs		myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 10							57	57	57					10																	22022438		2199	4287	6486	SO:0001589	frameshift_variant	8028				positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr10:22022438delA	U13948	CCDS7135.1, CCDS55706.1, CCDS55707.1, CCDS55708.1	10p12	2013-01-28	2001-11-28		ENSG00000078403	ENSG00000078403		"Zinc fingers, PHD-type"	16063	protein-coding gene	gene with protein product		602409	"myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 10"			7888665	Standard	NM_004641		Approved	AF10	uc021pny.1	P55197	OTTHUMG00000017799	ENST00000307729.7:c.2413delA	10.37:g.22022438delA	ENSP00000307411:p.Thr806fs					MLLT10_ENST00000446906.2_Frame_Shift_Del_p.T806fs|MLLT10_ENST00000307729.7_Frame_Shift_Del_p.T806fs|MLLT10_ENST00000377059.3_Frame_Shift_Del_p.T806fs	p.T822fs	NM_004641.3	NP_004632.1	P55197	AF10_HUMAN			20	2809	+			822					B1ANA8|Q5JT37|Q5VX90|Q66K63	Frame_Shift_Del	DEL	ENST00000307729.7	37	c.2461delA	CCDS55708.1																																																																																				0.318	MLLT10-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047136.1			31	41						31	41	---	---	---	---	-	22022438	A	-	22022438	7	5	27	1	0	1	0	1	0	0	0	0	9626	391	14	0	2535	0	MLLT10	10	22022438	Frame_Shift_Del	DEL	A	TCGA-CH-5761-01A-11D-1576-08		22022438	113512309	44	1292											
TFAM	7019	broad.mit.edu	37	chr10	60148567	60148567	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	catttaaaaaggaaagctatGacaaaaaaaaaagtgagtat	23	8	7	3	0	0	2	0	2	0	0	0	3	0	3	0	1	1	2	0	1	11	4	rs553009666		TCGA-CH-5761-01A-11D-1576-08	TCGA-CH-5761-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb9b1203-fc4a-40c9-867a-436a54c61cf3	b8efa698-2592-447e-b038-3b4da4ebf6de	g.chr10:60148567G>A	ENST00000487519.1	+	4	955	c.429G>A	c.(427-429)atG>atA	p.M143I	TFAM_ENST00000373899.3_3'UTR|TFAM_ENST00000373895.3_Missense_Mutation_p.M143I	NM_001270782.1|NM_003201.2	NP_001257711.1|NP_003192.1	Q00059	TFAM_HUMAN	transcription factor A, mitochondrial	143					DNA-dependent DNA replication (GO:0006261)|gene expression (GO:0010467)|mitochondrial respiratory chain complex assembly (GO:0033108)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase I promoter (GO:0006356)|transcription from mitochondrial promoter (GO:0006390)|transcription initiation from mitochondrial promoter (GO:0006391)	mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding, bending (GO:0008301)|mitochondrial light strand promoter sense binding (GO:0070363)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.M143I(1)		kidney(1)|large_intestine(1)|lung(4)|prostate(1)	7						GGAAAGCTATGACAAAAAAAA	0.269													G|||	1	0.000199681	8e-04	0	5008	,	,		17042	0		0	False		,,,				2504	0					ENST00000487519.1																			1	Substitution - Missense(1)	p.M143I(1)	prostate(1)	kidney(1)|large_intestine(1)|lung(4)|prostate(1)	7						c.(427-429)atG>atA		transcription factor A, mitochondrial							43	52	49					10																	60148567		2199	4296	6495	SO:0001583	missense	7019				DNA-dependent DNA replication|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase I promoter|transcription initiation from mitochondrial promoter	mitochondrial nucleoid	mitochondrial light strand promoter sense binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr10:60148567G>A	BC018628	CCDS7253.1, CCDS59217.1	10q21	2010-09-24			ENSG00000108064	ENSG00000108064			11741	protein-coding gene	gene with protein product		600438		TCF6, TCF6L2		7789991	Standard	NM_003201		Approved		uc001jkf.4	Q00059	OTTHUMG00000018270	ENST00000487519.1:c.429G>A	10.37:g.60148567G>A	ENSP00000420588:p.Met143Ile					TFAM_ENST00000373895.3_Missense_Mutation_p.M143I|TFAM_ENST00000373899.3_3'UTR	p.M143I	NM_003201.1	NP_003192.1	Q00059	TFAM_HUMAN			4	955	+			143					A8MRB2|A9QXC6|B5BU05|Q5U0C6	Missense_Mutation	SNP	ENST00000487519.1	37	c.429G>A	CCDS7253.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	0.008|0.008	-1.913738|-1.913738	0.00503|0.00503	.|.	.|.	ENSG00000108064|ENSG00000108064	ENST00000395377|ENST00000487519;ENST00000373895	.|T;T	.|0.12984	.|2.63;2.67	4.87|4.87	2.46|2.46	0.29980|0.29980	.|High mobility group, superfamily (1);	.|1.416010	.|0.04135	.|N	.|0.318648	T|T	0.08268|0.08268	0.0206|0.0206	N|N	0.08118|0.08118	0|0	0.09310|0.09310	N|N	1|1	.|B;B	.|0.02656	.|0.0;0.0	.|B;B	.|0.06405	.|0.002;0.0	T|T	0.32929|0.32929	-0.9888|-0.9888	5|10	.|0.37606	.|T	.|0.19	.|.	6.2587|6.2587	0.20887|0.20887	0.7887:0.0:0.2113:0.0|0.7887:0.0:0.2113:0.0	.|.	.|143;143	.|A8MRB2;Q00059	.|.;TFAM_HUMAN	N|I	125|143	.|ENSP00000420588:M143I;ENSP00000363002:M143I	.|ENSP00000363002:M143I	D|M	+|+	1|3	0|0	TFAM|TFAM	59818573|59818573	0.001000|0.001000	0.12720|0.12720	0.013000|0.013000	0.15412|0.15412	0.001000|0.001000	0.01503|0.01503	0.972000|0.972000	0.29409|0.29409	0.325000|0.325000	0.23359|0.23359	-0.302000|-0.302000	0.09304|0.09304	GAC|ATG		0.269	TFAM-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048146.1	NM_003201		46	83	0	0	0	0.870114	0	46	83					A	60148567	G	A	60148567	3	1	27	1	0	0	0	0	1	0	0	0	15783	1290	45	3	443	3	TFAM	10	60148567	Missense_Mutation	SNP	G	TCGA-CH-5761-01A-11D-1576-08	38126129	60148567	75386180	45	1293											
HARBI1	283254	broad.mit.edu	37	chr11	46625305	46625305	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcagtgcccccttggatccAtccaggcagcggaatcggga	8	7	13	13	2	0	0	0	0	0	0	3	3	2	3	4	4	3	2	4	4	1	1			TCGA-CH-5761-01A-11D-1576-08	TCGA-CH-5761-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb9b1203-fc4a-40c9-867a-436a54c61cf3	b8efa698-2592-447e-b038-3b4da4ebf6de	g.chr11:46625305A>C	ENST00000326737.3	-	3	1072	c.825T>G	c.(823-825)gaT>gaG	p.D275E		NM_173811.3	NP_776172.1	Q96MB7	HARB1_HUMAN	harbinger transposase derived 1	275						centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nuclease activity (GO:0004518)	p.D275E(1)		large_intestine(1)|prostate(1)|upper_aerodigestive_tract(1)	3						CCTTGGATCCATCCAGGCAGC	0.517																																						ENST00000326737.3																			1	Substitution - Missense(1)	p.D275E(1)	prostate(1)	large_intestine(1)|prostate(1)|upper_aerodigestive_tract(1)	3						c.(823-825)gaT>gaG		harbinger transposase derived 1							104	95	98					11																	46625305		2201	4299	6500	SO:0001583	missense	283254					cytoplasm|nucleus	metal ion binding|nuclease activity	g.chr11:46625305A>C	AK057237	CCDS7920.1	11p11.2	2008-07-10	2008-07-01	2008-07-01	ENSG00000180423	ENSG00000180423			26522	protein-coding gene	gene with protein product		615086	"chromosome 11 open reading frame 77"	C11orf77		15169610, 18339812	Standard	NM_173811		Approved	FLJ32675	uc001ncy.3	Q96MB7	OTTHUMG00000166537	ENST00000326737.3:c.825T>G	11.37:g.46625305A>C	ENSP00000317743:p.Asp275Glu						p.D275E	NM_173811.3	NP_776172.1	Q96MB7	HARB1_HUMAN			3	1072	-			275					D3DQP9	Missense_Mutation	SNP	ENST00000326737.3	37	c.825T>G	CCDS7920.1	.	.	.	.	.	.	.	.	.	.	A	16.07	3.017462	0.54576	.	.	ENSG00000180423	ENST00000326737	.	.	.	5.96	2.22	0.28083	.	0.000000	0.85682	D	0.000000	T	0.47097	0.1427	M	0.70595	2.14	0.53005	D	0.999961	P	0.37731	0.607	B	0.33121	0.158	T	0.46091	-0.9216	9	0.06625	T	0.88	-18.8028	10.545	0.45056	0.7495:0.0:0.2505:0.0	.	275	Q96MB7	HARB1_HUMAN	E	275	.	ENSP00000317743:D275E	D	-	3	2	HARBI1	46581881	0.916000	0.31088	1.000000	0.80357	0.996000	0.88848	0.110000	0.15437	0.117000	0.18138	-0.256000	0.11100	GAT		0.517	HARBI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390291.1	NM_173811		15	33	0	0	0	0.479597	0	15	33					C	46625305	A	C	46625305	3	2	27	1	0	0	0	0	1	0	0	0	6958	214	8	5	228	5	HARBI1	11	46625305	Missense_Mutation	SNP	A	TCGA-CH-5761-01A-11D-1576-08		46625305	88381211	46	1294											
KCNK4	50801	broad.mit.edu	37	chr11	64065643	64065643	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtgtggttctggatcctgctCggcctggcttacttcgcctc	2	14	12	13	2	1	0	0	0	1	0	5	1	2	1	3	4	2	3	3	4	1	3	rs143683020		TCGA-CH-5761-01A-11D-1576-08	TCGA-CH-5761-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb9b1203-fc4a-40c9-867a-436a54c61cf3	b8efa698-2592-447e-b038-3b4da4ebf6de	g.chr11:64065643C>T	ENST00000539216.1	+	5	1083	c.723C>T	c.(721-723)ctC>ctT	p.L241L	TEX40_ENST00000539943.1_5'Flank|Y_RNA_ENST00000384297.1_RNA|KCNK4_ENST00000539651.1_3'UTR|KCNK4_ENST00000422670.2_Silent_p.L241L|KCNK4_ENST00000538767.1_Missense_Mutation_p.R126W|RP11-783K16.10_ENST00000539086.1_RNA|TEX40_ENST00000328404.6_5'Flank|KCNK4_ENST00000394525.2_Silent_p.L241L			Q9NYG8	KCNK4_HUMAN	potassium channel, subfamily K, member 4	241					potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	potassium channel activity (GO:0005267)|voltage-gated ion channel activity (GO:0005244)	p.L241L(1)		breast(2)|large_intestine(2)|lung(3)|prostate(2)|urinary_tract(1)	10						GGATCCTGCTCGGCCTGGCTT	0.637																																						ENST00000538767.1																			1	Substitution - coding silent(1)	p.L241L(1)	prostate(1)	breast(2)|large_intestine(2)|lung(3)|prostate(2)|urinary_tract(1)	10						c.(376-378)Cgg>Tgg		potassium channel, subfamily K, member 4		C		2,4400	4.2+/-10.8	0,2,2199	46	41	43		723	-11.1	0.6	11	dbSNP_134	43	0,8594		0,0,4297	no	coding-synonymous	KCNK4	NM_033310.2		0,2,6496	TT,TC,CC		0.0,0.0454,0.0154		241/394	64065643	2,12994	2201	4297	6498	SO:0001819	synonymous_variant	50801					integral to membrane	potassium channel activity|voltage-gated ion channel activity	g.chr11:64065643C>T	AF247042	CCDS8067.1	11q13	2012-03-07			ENSG00000182450	ENSG00000182450		"Potassium channels", "Voltage-gated ion channels / Potassium channels, Two-P"	6279	protein-coding gene	gene with protein product		605720				10767409, 16382106	Standard	NM_033310		Approved	K2p4.1, TRAAK	uc001nzk.1	Q9NYG8	OTTHUMG00000168006	ENST00000539216.1:c.723C>T	11.37:g.64065643C>T						KCNK4_ENST00000539651.1_3'UTR|KCNK4_ENST00000422670.2_Silent_p.L241L|KCNK4_ENST00000394525.2_Silent_p.L241L|KCNK4_ENST00000539216.1_Silent_p.L241L|RP11-783K16.10_ENST00000539086.1_RNA	p.R126W			Q9NYG8	KCNK4_HUMAN			5	628	+			0					B5TJL1|Q96T94	Missense_Mutation	SNP	ENST00000539216.1	37	c.376C>T	CCDS8067.1	.	.	.	.	.	.	.	.	.	.	C	13.35	2.211205	0.39102	4.54E-4	0.0	ENSG00000182450	ENST00000538767	.	.	.	5.57	-11.1	0.00147	.	.	.	.	.	T	0.45074	0.1324	.	.	.	0.80722	D	1	B	0.14805	0.011	B	0.04013	0.001	T	0.27297	-1.0078	7	0.87932	D	0	.	11.3076	0.49345	0.0:0.1162:0.486:0.3978	.	126	F5GYE0	.	W	126	.	ENSP00000446454:R126W	R	+	1	2	KCNK4	63822219	0.006000	0.16342	0.638000	0.29380	0.993000	0.82548	-1.600000	0.02083	-1.946000	0.01035	-0.367000	0.07326	CGG		0.637	KCNK4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396430.1	NM_033311		16	36	0	0	0	0.520397	0	16	36					T	64065643	C	T	64065643	2	4	27	1	0	0	0	0	0	0	0	1	8068	871	31	2		2	KCNK4	11	64065643	Silent	SNP	C	TCGA-CH-5761-01A-11D-1576-08	17440338	64065643	70940873	47	1295											
FZD4	8322	broad.mit.edu	37	chr11	86662613	86662613	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccaatgaccaaataagtaaaGaggggagccaccacgaaccc	17	3	9	12	1	0	2	0	1	0	1	0	4	0	3	5	2	2	1	5	2	6	2			TCGA-CH-5761-01A-11D-1576-08	TCGA-CH-5761-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb9b1203-fc4a-40c9-867a-436a54c61cf3	b8efa698-2592-447e-b038-3b4da4ebf6de	g.chr11:86662613G>A	ENST00000531380.1	-	2	1490	c.1185C>T	c.(1183-1185)ctC>ctT	p.L395L	PRSS23_ENST00000531521.1_3'UTR|PRSS23_ENST00000533902.2_3'UTR	NM_012193.3	NP_036325.2	Q9ULV1	FZD4_HUMAN	frizzled class receptor 4	395					brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|cellular response to retinoic acid (GO:0071300)|cerebellum vasculature morphogenesis (GO:0061301)|extracellular matrix-cell signaling (GO:0035426)|locomotion involved in locomotory behavior (GO:0031987)|negative regulation of cell-substrate adhesion (GO:0010812)|neuron differentiation (GO:0030182)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription, DNA-templated (GO:0045893)|progesterone secretion (GO:0042701)|regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030947)|retina vasculature morphogenesis in camera-type eye (GO:0061299)|retinal blood vessel morphogenesis (GO:0061304)|sensory perception of sound (GO:0007605)|substrate adhesion-dependent cell spreading (GO:0034446)|vasculogenesis (GO:0001570)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway, calcium modulating pathway (GO:0007223)	cell projection (GO:0042995)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cytokine binding (GO:0019955)|G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)	p.L395L(1)		breast(1)|kidney(1)|large_intestine(3)|lung(9)|prostate(6)|skin(1)	21		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				AATAAGTAAAGAGGGGAGCCA	0.453																																						ENST00000531380.1																			1	Substitution - coding silent(1)	p.L395L(1)	prostate(1)	breast(1)|kidney(1)|large_intestine(3)|lung(9)|prostate(6)|skin(1)	21						c.(1183-1185)ctC>ctT		frizzled family receptor 4							112	107	108					11																	86662613		2201	4299	6500	SO:0001819	synonymous_variant	8322				canonical Wnt receptor signaling pathway|cellular response to retinoic acid|embryo development|negative regulation of cell-substrate adhesion|neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|progesterone secretion|regulation of vascular endothelial growth factor receptor signaling pathway|substrate adhesion-dependent cell spreading|vasculogenesis|Wnt receptor signaling pathway, calcium modulating pathway	cell projection|cell surface|cytoplasm	cytokine binding|G-protein coupled receptor activity|PDZ domain binding|protein heterodimerization activity|protein homodimerization activity|Wnt receptor activity|Wnt-protein binding	g.chr11:86662613G>A	AB032417	CCDS8279.1	11q14-q21	2014-01-29	2014-01-29			ENSG00000174804		"GPCR / Class F : Frizzled receptors", "CD molecules"	4042	protein-coding gene	gene with protein product		604579	"frizzled (Drosophila) homolog 4", "exudative vitreoretinopathy 1", "frizzled homolog 4 (Drosophila)", "frizzled 4, seven transmembrane spanning receptor", "frizzled family receptor 4"	EVR1		10544037, 15024691	Standard	NM_012193		Approved	CD344	uc001pce.3	Q9ULV1		ENST00000531380.1:c.1185C>T	11.37:g.86662613G>A						PRSS23_ENST00000533902.2_3'UTR|PRSS23_ENST00000531521.1_3'UTR	p.L395L	NM_012193.3	NP_036325.2	Q9ULV1	FZD4_HUMAN			2	1490	-		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)	395					A8K9Q3|Q14C97|Q6S9E4	Silent	SNP	ENST00000531380.1	37	c.1185C>T	CCDS8279.1																																																																																				0.453	FZD4-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393818.2	NM_012193		8	182	0	0	0	0.27861	0	8	182					A	86662613	G	A	86662613	2	1	27	1	0	0	0	0	0	0	0	1	6132	929	33	3		3	FZD4	11	86662613	Silent	SNP	G	TCGA-CH-5761-01A-11D-1576-08	22596970	86662613	48343903	48	1296			3	5		5	5	618	N	G_-	2.169736e-13
FZD4	8322	broad.mit.edu	37	chr11	86662648	86662648	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gaacccggtgagggcatcgaGattttggtttccaacatagc	10	10	12	9	2	0	2	0	1	0	1	2	4	1	2	2	3	3	2	2	3	3	4			TCGA-CH-5761-01A-11D-1576-08	TCGA-CH-5761-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb9b1203-fc4a-40c9-867a-436a54c61cf3	b8efa698-2592-447e-b038-3b4da4ebf6de	g.chr11:86662648G>A	ENST00000531380.1	-	2	1455	c.1150C>T	c.(1150-1152)Ctc>Ttc	p.L384F	PRSS23_ENST00000531521.1_3'UTR|PRSS23_ENST00000533902.2_3'UTR	NM_012193.3	NP_036325.2	Q9ULV1	FZD4_HUMAN	frizzled class receptor 4	384					brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|cellular response to retinoic acid (GO:0071300)|cerebellum vasculature morphogenesis (GO:0061301)|extracellular matrix-cell signaling (GO:0035426)|locomotion involved in locomotory behavior (GO:0031987)|negative regulation of cell-substrate adhesion (GO:0010812)|neuron differentiation (GO:0030182)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription, DNA-templated (GO:0045893)|progesterone secretion (GO:0042701)|regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030947)|retina vasculature morphogenesis in camera-type eye (GO:0061299)|retinal blood vessel morphogenesis (GO:0061304)|sensory perception of sound (GO:0007605)|substrate adhesion-dependent cell spreading (GO:0034446)|vasculogenesis (GO:0001570)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway, calcium modulating pathway (GO:0007223)	cell projection (GO:0042995)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cytokine binding (GO:0019955)|G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)	p.L384F(1)		breast(1)|kidney(1)|large_intestine(3)|lung(9)|prostate(6)|skin(1)	21		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				AGGGCATCGAGATTTTGGTTT	0.483																																						ENST00000531380.1																			1	Substitution - Missense(1)	p.L384F(1)	prostate(1)	breast(1)|kidney(1)|large_intestine(3)|lung(9)|prostate(6)|skin(1)	21						c.(1150-1152)Ctc>Ttc		frizzled family receptor 4							119	105	110					11																	86662648		2201	4299	6500	SO:0001583	missense	8322				canonical Wnt receptor signaling pathway|cellular response to retinoic acid|embryo development|negative regulation of cell-substrate adhesion|neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|progesterone secretion|regulation of vascular endothelial growth factor receptor signaling pathway|substrate adhesion-dependent cell spreading|vasculogenesis|Wnt receptor signaling pathway, calcium modulating pathway	cell projection|cell surface|cytoplasm	cytokine binding|G-protein coupled receptor activity|PDZ domain binding|protein heterodimerization activity|protein homodimerization activity|Wnt receptor activity|Wnt-protein binding	g.chr11:86662648G>A	AB032417	CCDS8279.1	11q14-q21	2014-01-29	2014-01-29			ENSG00000174804		"GPCR / Class F : Frizzled receptors", "CD molecules"	4042	protein-coding gene	gene with protein product		604579	"frizzled (Drosophila) homolog 4", "exudative vitreoretinopathy 1", "frizzled homolog 4 (Drosophila)", "frizzled 4, seven transmembrane spanning receptor", "frizzled family receptor 4"	EVR1		10544037, 15024691	Standard	NM_012193		Approved	CD344	uc001pce.3	Q9ULV1		ENST00000531380.1:c.1150C>T	11.37:g.86662648G>A	ENSP00000434034:p.Leu384Phe					PRSS23_ENST00000533902.2_3'UTR|PRSS23_ENST00000531521.1_3'UTR	p.L384F	NM_012193.3	NP_036325.2	Q9ULV1	FZD4_HUMAN			2	1455	-		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)	384					A8K9Q3|Q14C97|Q6S9E4	Missense_Mutation	SNP	ENST00000531380.1	37	c.1150C>T	CCDS8279.1	.	.	.	.	.	.	.	.	.	.	G	11.42	1.632417	0.29068	.	.	ENSG00000174804	ENST00000531380	T	0.44083	0.93	5.47	3.58	0.41010	GPCR, family 2-like (1);	0.122257	0.56097	D	0.000035	T	0.42743	0.1216	M	0.79926	2.475	0.42929	D	0.994314	P	0.37636	0.603	B	0.38921	0.285	T	0.41378	-0.9512	9	.	.	.	.	6.3914	0.21589	0.2058:0.0:0.6587:0.1355	.	384	Q9ULV1	FZD4_HUMAN	F	384	ENSP00000434034:L384F	.	L	-	1	0	FZD4	86340296	1.000000	0.71417	0.988000	0.46212	0.919000	0.55068	2.220000	0.42908	1.467000	0.48044	0.561000	0.74099	CTC		0.483	FZD4-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393818.2	NM_012193		10	150	0	0	0	0.335167	0	10	150					A	86662648	G	A	86662648	3	1	27	1	0	0	0	0	1	0	0	0	6132	942	33	3	467	3	FZD4	11	86662648	Missense_Mutation	SNP	G	TCGA-CH-5761-01A-11D-1576-08	35	86662648	48343868	49	1297			3	5		5	5	618	N	G_-	2.169736e-13
FZD4	8322	broad.mit.edu	37	chr11	86662880	86662880	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccaaaaaagtacatcagcaaGaaaattattgcacatcctgt	18	9	5	9	0	1	1	1	0	0	1	2	1	2	1	2	0	3	3	2	0	8	3			TCGA-CH-5761-01A-11D-1576-08	TCGA-CH-5761-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb9b1203-fc4a-40c9-867a-436a54c61cf3	b8efa698-2592-447e-b038-3b4da4ebf6de	g.chr11:86662880G>A	ENST00000531380.1	-	2	1223	c.918C>T	c.(916-918)ttC>ttT	p.F306F	PRSS23_ENST00000533902.2_3'UTR	NM_012193.3	NP_036325.2	Q9ULV1	FZD4_HUMAN	frizzled class receptor 4	306					brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|cellular response to retinoic acid (GO:0071300)|cerebellum vasculature morphogenesis (GO:0061301)|extracellular matrix-cell signaling (GO:0035426)|locomotion involved in locomotory behavior (GO:0031987)|negative regulation of cell-substrate adhesion (GO:0010812)|neuron differentiation (GO:0030182)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription, DNA-templated (GO:0045893)|progesterone secretion (GO:0042701)|regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030947)|retina vasculature morphogenesis in camera-type eye (GO:0061299)|retinal blood vessel morphogenesis (GO:0061304)|sensory perception of sound (GO:0007605)|substrate adhesion-dependent cell spreading (GO:0034446)|vasculogenesis (GO:0001570)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway, calcium modulating pathway (GO:0007223)	cell projection (GO:0042995)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cytokine binding (GO:0019955)|G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)	p.F306F(1)		breast(1)|kidney(1)|large_intestine(3)|lung(9)|prostate(6)|skin(1)	21		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				ACATCAGCAAGAAAATTATTG	0.448																																						ENST00000531380.1																			1	Substitution - coding silent(1)	p.F306F(1)	prostate(1)	breast(1)|kidney(1)|large_intestine(3)|lung(9)|prostate(6)|skin(1)	21						c.(916-918)ttC>ttT		frizzled family receptor 4							40	40	40					11																	86662880		2201	4299	6500	SO:0001819	synonymous_variant	8322				canonical Wnt receptor signaling pathway|cellular response to retinoic acid|embryo development|negative regulation of cell-substrate adhesion|neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|progesterone secretion|regulation of vascular endothelial growth factor receptor signaling pathway|substrate adhesion-dependent cell spreading|vasculogenesis|Wnt receptor signaling pathway, calcium modulating pathway	cell projection|cell surface|cytoplasm	cytokine binding|G-protein coupled receptor activity|PDZ domain binding|protein heterodimerization activity|protein homodimerization activity|Wnt receptor activity|Wnt-protein binding	g.chr11:86662880G>A	AB032417	CCDS8279.1	11q14-q21	2014-01-29	2014-01-29			ENSG00000174804		"GPCR / Class F : Frizzled receptors", "CD molecules"	4042	protein-coding gene	gene with protein product		604579	"frizzled (Drosophila) homolog 4", "exudative vitreoretinopathy 1", "frizzled homolog 4 (Drosophila)", "frizzled 4, seven transmembrane spanning receptor", "frizzled family receptor 4"	EVR1		10544037, 15024691	Standard	NM_012193		Approved	CD344	uc001pce.3	Q9ULV1		ENST00000531380.1:c.918C>T	11.37:g.86662880G>A						PRSS23_ENST00000533902.2_3'UTR	p.F306F	NM_012193.3	NP_036325.2	Q9ULV1	FZD4_HUMAN			2	1223	-		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)	306					A8K9Q3|Q14C97|Q6S9E4	Silent	SNP	ENST00000531380.1	37	c.918C>T	CCDS8279.1																																																																																				0.448	FZD4-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393818.2	NM_012193		3	86	0	0	0	0.115264	0	3	86					A	86662880	G	A	86662880	2	1	27	1	0	0	0	0	0	0	0	1	6132	933	33	3		3	FZD4	11	86662880	Silent	SNP	G	TCGA-CH-5761-01A-11D-1576-08	232	86662880	48343636	50	1298			3	5		5	5	618	N	G_-	2.169736e-13
FZD4	8322	broad.mit.edu	37	chr11	86663024	86663024	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	taaatattatagcacatactGagaaatatgatggggcgctc	15	11	9	6	1	0	2	0	2	0	1	1	3	0	2	0	2	2	2	0	2	8	6	rs370811133		TCGA-CH-5761-01A-11D-1576-08	TCGA-CH-5761-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb9b1203-fc4a-40c9-867a-436a54c61cf3	b8efa698-2592-447e-b038-3b4da4ebf6de	g.chr11:86663024G>A	ENST00000531380.1	-	2	1079	c.774C>T	c.(772-774)ctC>ctT	p.L258L	PRSS23_ENST00000533902.2_3'UTR	NM_012193.3	NP_036325.2	Q9ULV1	FZD4_HUMAN	frizzled class receptor 4	258					brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|cellular response to retinoic acid (GO:0071300)|cerebellum vasculature morphogenesis (GO:0061301)|extracellular matrix-cell signaling (GO:0035426)|locomotion involved in locomotory behavior (GO:0031987)|negative regulation of cell-substrate adhesion (GO:0010812)|neuron differentiation (GO:0030182)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription, DNA-templated (GO:0045893)|progesterone secretion (GO:0042701)|regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030947)|retina vasculature morphogenesis in camera-type eye (GO:0061299)|retinal blood vessel morphogenesis (GO:0061304)|sensory perception of sound (GO:0007605)|substrate adhesion-dependent cell spreading (GO:0034446)|vasculogenesis (GO:0001570)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway, calcium modulating pathway (GO:0007223)	cell projection (GO:0042995)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cytokine binding (GO:0019955)|G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)	p.L258L(1)		breast(1)|kidney(1)|large_intestine(3)|lung(9)|prostate(6)|skin(1)	21		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				AGCACATACTGAGAAATATGA	0.458																																						ENST00000531380.1																			1	Substitution - coding silent(1)	p.L258L(1)	prostate(1)	breast(1)|kidney(1)|large_intestine(3)|lung(9)|prostate(6)|skin(1)	21						c.(772-774)ctC>ctT		frizzled family receptor 4							40	42	42					11																	86663024		2201	4299	6500	SO:0001819	synonymous_variant	8322				canonical Wnt receptor signaling pathway|cellular response to retinoic acid|embryo development|negative regulation of cell-substrate adhesion|neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|progesterone secretion|regulation of vascular endothelial growth factor receptor signaling pathway|substrate adhesion-dependent cell spreading|vasculogenesis|Wnt receptor signaling pathway, calcium modulating pathway	cell projection|cell surface|cytoplasm	cytokine binding|G-protein coupled receptor activity|PDZ domain binding|protein heterodimerization activity|protein homodimerization activity|Wnt receptor activity|Wnt-protein binding	g.chr11:86663024G>A	AB032417	CCDS8279.1	11q14-q21	2014-01-29	2014-01-29			ENSG00000174804		"GPCR / Class F : Frizzled receptors", "CD molecules"	4042	protein-coding gene	gene with protein product		604579	"frizzled (Drosophila) homolog 4", "exudative vitreoretinopathy 1", "frizzled homolog 4 (Drosophila)", "frizzled 4, seven transmembrane spanning receptor", "frizzled family receptor 4"	EVR1		10544037, 15024691	Standard	NM_012193		Approved	CD344	uc001pce.3	Q9ULV1		ENST00000531380.1:c.774C>T	11.37:g.86663024G>A						PRSS23_ENST00000533902.2_3'UTR	p.L258L	NM_012193.3	NP_036325.2	Q9ULV1	FZD4_HUMAN			2	1079	-		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)	258					A8K9Q3|Q14C97|Q6S9E4	Silent	SNP	ENST00000531380.1	37	c.774C>T	CCDS8279.1																																																																																				0.458	FZD4-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393818.2	NM_012193		7	61	0	0	0	0.27861	0	7	61					A	86663024	G	A	86663024	2	1	27	1	0	0	0	0	0	0	0	1	6132	1277	45	3		3	FZD4	11	86663024	Silent	SNP	G	TCGA-CH-5761-01A-11D-1576-08	144	86663024	48343492	51	1299			3	5		5	5	618	N	G_-	2.169736e-13
FZD4	8322	broad.mit.edu	37	chr11	86663230	86663231	+	Frame_Shift_Ins	INS	-	-	T																															cttttcacccagatgtactgINSatcagaattggttcccacag																										TCGA-CH-5761-01A-11D-1576-08	TCGA-CH-5761-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb9b1203-fc4a-40c9-867a-436a54c61cf3	b8efa698-2592-447e-b038-3b4da4ebf6de	g.chr11:86663230_86663231insT	ENST00000531380.1	-	2	872_873	c.567_568insA	c.(565-570)gatcagfs	p.Q190fs	PRSS23_ENST00000533902.2_3'UTR	NM_012193.3	NP_036325.2	Q9ULV1	FZD4_HUMAN	frizzled class receptor 4	190					brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|cellular response to retinoic acid (GO:0071300)|cerebellum vasculature morphogenesis (GO:0061301)|extracellular matrix-cell signaling (GO:0035426)|locomotion involved in locomotory behavior (GO:0031987)|negative regulation of cell-substrate adhesion (GO:0010812)|neuron differentiation (GO:0030182)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription, DNA-templated (GO:0045893)|progesterone secretion (GO:0042701)|regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030947)|retina vasculature morphogenesis in camera-type eye (GO:0061299)|retinal blood vessel morphogenesis (GO:0061304)|sensory perception of sound (GO:0007605)|substrate adhesion-dependent cell spreading (GO:0034446)|vasculogenesis (GO:0001570)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway, calcium modulating pathway (GO:0007223)	cell projection (GO:0042995)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cytokine binding (GO:0019955)|G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			breast(1)|kidney(1)|large_intestine(3)|lung(9)|prostate(6)|skin(1)	21		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				CAGATGTACTGATCAGAATTGG	0.515																																						ENST00000531380.1																			0				breast(1)|kidney(1)|large_intestine(3)|lung(9)|prostate(6)|skin(1)	21						c.(565-570)gaagtafs		frizzled family receptor 4																																				SO:0001589	frameshift_variant	8322				canonical Wnt receptor signaling pathway|cellular response to retinoic acid|embryo development|negative regulation of cell-substrate adhesion|neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|progesterone secretion|regulation of vascular endothelial growth factor receptor signaling pathway|substrate adhesion-dependent cell spreading|vasculogenesis|Wnt receptor signaling pathway, calcium modulating pathway	cell projection|cell surface|cytoplasm	cytokine binding|G-protein coupled receptor activity|PDZ domain binding|protein heterodimerization activity|protein homodimerization activity|Wnt receptor activity|Wnt-protein binding	g.chr11:86663230_86663231insT	AB032417	CCDS8279.1	11q14-q21	2014-01-29	2014-01-29			ENSG00000174804		"GPCR / Class F : Frizzled receptors", "CD molecules"	4042	protein-coding gene	gene with protein product		604579	"frizzled (Drosophila) homolog 4", "exudative vitreoretinopathy 1", "frizzled homolog 4 (Drosophila)", "frizzled 4, seven transmembrane spanning receptor", "frizzled family receptor 4"	EVR1		10544037, 15024691	Standard	NM_012193		Approved	CD344	uc001pce.3	Q9ULV1		ENST00000531380.1:c.567_568insA	11.37:g.86663230_86663231insT	ENSP00000434034:p.Gln190fs					PRSS23_ENST00000533902.2_3'UTR	p.V190fs	NM_012193.3	NP_036325.2	Q9ULV1	FZD4_HUMAN			2	872_873	-		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)	190					A8K9Q3|Q14C97|Q6S9E4	Frame_Shift_Ins	INS	ENST00000531380.1	37	c.567_568insA	CCDS8279.1																																																																																				0.515	FZD4-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393818.2	NM_012193		7	234						7	234	---	---	---	---	T	86663231	-	T	86663230	7	5	27	1	0	1	1	0	0	0	0	0	6132	1299	45	0	1049	0	FZD4	11	86663230	Frame_Shift_Ins	INS	-	TCGA-CH-5761-01A-11D-1576-08	206	86663230	48343286	52	1300			3	5		5	5	618	N	G_-	2.169736e-13
PATE2	399967	broad.mit.edu	37	chr11	125647403	125647403	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gacagttttgaataatgataCatgctctgccctgaggaggt	11	12	11	7	0	1	3	0	3	1	0	1	5	1	4	1	2	3	2	1	2	3	4			TCGA-CH-5761-01A-11D-1576-08	TCGA-CH-5761-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb9b1203-fc4a-40c9-867a-436a54c61cf3	b8efa698-2592-447e-b038-3b4da4ebf6de	g.chr11:125647403C>T	ENST00000358524.3	-	4	261	c.216G>A	c.(214-216)atG>atA	p.M72I	PATE2_ENST00000436890.2_Missense_Mutation_p.M29I	NM_212555.2	NP_997720.1	Q6UY27	PATE2_HUMAN	prostate and testis expressed 2	72						extracellular space (GO:0005615)		p.M72I(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|prostate(1)	6						AATAATGATACATGCTCTGCC	0.423																																						ENST00000358524.3																			1	Substitution - Missense(1)	p.M72I(1)	prostate(1)	endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|prostate(1)	6						c.(214-216)atG>atA		prostate and testis expressed 2							116	95	102					11																	125647403		2201	4299	6500	SO:0001583	missense	399967					extracellular space		g.chr11:125647403C>T	AY358105	CCDS8465.1	11q24.2	2008-12-17	2008-12-17	2008-12-17		ENSG00000196844		"PATE family"	32249	protein-coding gene	gene with protein product			"chromosome 11 open reading frame 38"	C11orf38			Standard	NM_212555		Approved	UNQ3112, LVLF3112, PATE-M	uc001qcu.3	Q6UY27		ENST00000358524.3:c.216G>A	11.37:g.125647403C>T	ENSP00000351325:p.Met72Ile					PATE2_ENST00000436890.2_Missense_Mutation_p.M29I	p.M72I	NM_212555.2	NP_997720.1	Q6UY27	PATE2_HUMAN			4	261	-			72					B2RNZ2|B7ZMG4	Missense_Mutation	SNP	ENST00000358524.3	37	c.216G>A	CCDS8465.1	.	.	.	.	.	.	.	.	.	.	C	7.438	0.640113	0.14386	.	.	ENSG00000196844	ENST00000358524;ENST00000436890	D;D	0.92249	-3.0;-3.0	5.07	4.16	0.48862	.	0.574123	0.18729	N	0.132790	D	0.89427	0.6712	M	0.63428	1.95	0.21020	N	0.999803	B;B	0.15141	0.012;0.012	B;B	0.12837	0.008;0.008	T	0.81771	-0.0780	10	0.48119	T	0.1	-22.5484	9.6085	0.39648	0.0:0.9053:0.0:0.0947	.	29;72	Q6UY27-2;Q6UY27	.;PATE2_HUMAN	I	72;29	ENSP00000351325:M72I;ENSP00000414895:M29I	ENSP00000351325:M72I	M	-	3	0	PATE2	125152613	0.903000	0.30736	0.370000	0.25965	0.250000	0.25880	1.505000	0.35736	1.504000	0.48704	0.609000	0.83330	ATG		0.423	PATE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386729.1	NM_212555		33	100	0	0	0	0.769981	0	33	100					T	125647403	C	T	125647403	3	4	27	1	0	0	0	0	1	0	0	0	11474	478	17	3	129	3	PATE2	11	125647403	Missense_Mutation	SNP	C	TCGA-CH-5761-01A-11D-1576-08	38984173	125647403	9359113	53	1301											
B4GALNT3	283358	broad.mit.edu	37	chr12	665808	665808	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gcttgaactgttggaacaagGccagcgcgtggtgcggctct	7	9	15	10	3	1	1	0	1	1	0	1	2	1	2	1	4	4	3	1	4	3	2			TCGA-CH-5761-01A-11D-1576-08	TCGA-CH-5761-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb9b1203-fc4a-40c9-867a-436a54c61cf3	b8efa698-2592-447e-b038-3b4da4ebf6de	g.chr12:665808G>T	ENST00000266383.5	+	15	2169	c.2156G>T	c.(2155-2157)gGc>gTc	p.G719V		NM_173593.3	NP_775864.3	Q6L9W6	B4GN3_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 3	719					metabolic process (GO:0008152)	Golgi cisterna membrane (GO:0032580)|integral component of membrane (GO:0016021)	acetylgalactosaminyltransferase activity (GO:0008376)|N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity (GO:0033842)	p.G719V(1)		breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	all_cancers(10;0.0158)|all_epithelial(11;0.0274)|Ovarian(42;0.0512)|all_lung(10;0.154)|Lung NSC(10;0.215)		OV - Ovarian serous cystadenocarcinoma(31;0.00018)|BRCA - Breast invasive adenocarcinoma(9;0.0262)			TTGGAACAAGGCCAGCGCGTG	0.617																																						ENST00000266383.5																			1	Substitution - Missense(1)	p.G719V(1)	prostate(1)	breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						c.(2155-2157)gGc>gTc		beta-1,4-N-acetyl-galactosaminyl transferase 3							67	66	66					12																	665808		2203	4300	6503	SO:0001583	missense	283358					Golgi cisterna membrane|integral to membrane	N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity	g.chr12:665808G>T	AB089940	CCDS8504.1	12p13.33	2013-02-19			ENSG00000139044	ENSG00000139044	2.4.1.-	"Beta 4-glycosyltransferases"	24137	protein-coding gene	gene with protein product		612220				12966086	Standard	NM_173593		Approved	B4GalNac-T3, FLJ16224, FLJ40362	uc001qii.1	Q6L9W6	OTTHUMG00000129283	ENST00000266383.5:c.2156G>T	12.37:g.665808G>T	ENSP00000266383:p.Gly719Val						p.G719V	NM_173593.3	NP_775864.3	Q6L9W6	B4GN3_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00018)|BRCA - Breast invasive adenocarcinoma(9;0.0262)		15	2169	+	all_cancers(10;0.0158)|all_epithelial(11;0.0274)|Ovarian(42;0.0512)|all_lung(10;0.154)|Lung NSC(10;0.215)		719					Q6ZNC1|Q8N7T6	Missense_Mutation	SNP	ENST00000266383.5	37	c.2156G>T	CCDS8504.1	.	.	.	.	.	.	.	.	.	.	G	15.09	2.728840	0.48833	.	.	ENSG00000139044	ENST00000266383	T	0.15139	2.45	5.52	4.62	0.57501	.	0.598998	0.19169	N	0.120989	T	0.36635	0.0974	M	0.65975	2.015	0.21652	N	0.999609	D	0.61080	0.989	D	0.69654	0.965	T	0.08146	-1.0736	10	0.66056	D	0.02	-32.2579	10.7463	0.46183	0.148:0.0:0.852:0.0	.	719	Q6L9W6	B4GN3_HUMAN	V	719	ENSP00000266383:G719V	ENSP00000266383:G719V	G	+	2	0	B4GALNT3	536069	1.000000	0.71417	0.908000	0.35775	0.635000	0.38103	5.871000	0.69628	2.612000	0.88384	0.655000	0.94253	GGC		0.617	B4GALNT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251406.2	NM_173593		5	74	1	0	1.23904e-05	0.184627	1.44074e-05	5	74					T	665808	G	T	665808	3	4	27	1	0	0	0	0	1	0	0	0	1268	1203	42	5	2214	5	B4GALNT3	12	665808	Missense_Mutation	SNP	G	TCGA-CH-5761-01A-11D-1576-08		665808	133186087	54	1302											
SLC5A8	160728	broad.mit.edu	37	chr12	101588917	101588917	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacccccgttgccactaccgCgccccacagatcaaatcctg	9	6	6	20	3	1	1	1	0	0	1	2	1	2	1	7	0	2	1	7	0	2	2	rs199610556		TCGA-CH-5761-01A-11D-1576-08	TCGA-CH-5761-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb9b1203-fc4a-40c9-867a-436a54c61cf3	b8efa698-2592-447e-b038-3b4da4ebf6de	g.chr12:101588917C>T	ENST00000536262.2	-	4	1051	c.493G>A	c.(493-495)Gcg>Acg	p.A165T		NM_145913.3	NP_666018.3			solute carrier family 5 (sodium/monocarboxylate cotransporter), member 8									p.A165T(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(29)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						GCCACTACCGCGCCCCACAGA	0.403																																					GBM(60;420 1056 13605 22380 47675)	ENST00000536262.2																			1	Substitution - Missense(1)	p.A165T(1)	prostate(1)	breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(29)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						c.(493-495)Gcg>Acg		solute carrier family 5 (sodium/monocarboxylate cotransporter), member 8		C	THR/ALA	0,4406		0,0,2203	78	70	73		493	5.6	0.8	12		73	2,8598	2.2+/-6.3	0,2,4298	yes	missense	SLC5A8	NM_145913.3	58	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	benign	165/611	101588917	2,13004	2203	4300	6503	SO:0001583	missense	160728				apoptosis|sodium ion transport	apical plasma membrane|integral to membrane	monocarboxylic acid transmembrane transporter activity|passive transmembrane transporter activity|symporter activity	g.chr12:101588917C>T	AY081220	CCDS9080.1	12q23.1	2013-07-19	2013-07-19		ENSG00000256870	ENSG00000256870		"Solute carriers"	19119	protein-coding gene	gene with protein product		608044	"solute carrier family 5 (iodide transporter), member 8"			12107270, 12829793	Standard	NM_145913		Approved	AIT	uc001thz.4	Q8N695	OTTHUMG00000170499	ENST00000536262.2:c.493G>A	12.37:g.101588917C>T	ENSP00000445340:p.Ala165Thr						p.A165T	NM_145913.3	NP_666018.3	Q8N695	SC5A8_HUMAN			4	1051	-			165						Missense_Mutation	SNP	ENST00000536262.2	37	c.493G>A	CCDS9080.1	.	.	.	.	.	.	.	.	.	.	C	17.60	3.428880	0.62844	0.0	2.33E-4	ENSG00000256870	ENST00000536262	D	0.92149	-2.98	5.64	5.64	0.86602	.	0.047004	0.85682	D	0.000000	D	0.89962	0.6867	L	0.48935	1.535	0.80722	D	1	B	0.25105	0.118	B	0.21917	0.037	D	0.85949	0.1463	10	0.38643	T	0.18	.	19.6876	0.95986	0.0:1.0:0.0:0.0	.	165	Q8N695	SC5A8_HUMAN	T	165	ENSP00000445340:A165T	ENSP00000445340:A165T	A	-	1	0	SLC5A8	100113048	0.996000	0.38824	0.790000	0.31976	0.507000	0.33981	3.473000	0.53122	2.657000	0.90304	0.585000	0.79938	GCG		0.403	SLC5A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409401.1	NM_145913		29	38	0	0	0	0.717897	0	29	38					T	101588917	C	T	101588917	3	4	27	1	0	0	0	0	1	0	0	0	14671	768	27	1	1387	1	SLC5A8	12	101588917	Missense_Mutation	SNP	C	TCGA-CH-5761-01A-11D-1576-08	100923109	101588917	32262978	55	1303											
PPP2R5E	5529	broad.mit.edu	37	chr14	63858555	63858555	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctctttttgactacatgtttTaggccaaaatttcattaacc	11	17	4	9	0	2	1	1	1	1	0	2	1	2	1	2	1	2	1	2	1	5	7			TCGA-CH-5761-01A-11D-1576-08	TCGA-CH-5761-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb9b1203-fc4a-40c9-867a-436a54c61cf3	b8efa698-2592-447e-b038-3b4da4ebf6de	g.chr14:63858555T>C	ENST00000337537.3	-	10	1536	c.934A>G	c.(934-936)Aaa>Gaa	p.K312E	PPP2R5E_ENST00000422769.2_Missense_Mutation_p.K236E|PPP2R5E_ENST00000555899.1_Missense_Mutation_p.K312E|PPP2R5E_ENST00000553266.1_5'UTR	NM_001282179.1|NM_001282180.1|NM_001282181.1|NM_001282182.1|NM_006246.2	NP_001269108.1|NP_001269109.1|NP_001269110.1|NP_001269111.1|NP_006237.1	Q16537	2A5E_HUMAN	protein phosphatase 2, regulatory subunit B', epsilon isoform	312					regulation of catalytic activity (GO:0050790)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|protein phosphatase type 2A complex (GO:0000159)	protein phosphatase type 2A regulator activity (GO:0008601)	p.K312E(1)		endometrium(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|soft_tissue(1)	15				OV - Ovarian serous cystadenocarcinoma(108;0.00197)|all cancers(60;0.0153)|BRCA - Breast invasive adenocarcinoma(234;0.128)		CTACATGTTTTAGGCCAAAAT	0.333																																						ENST00000337537.3																			1	Substitution - Missense(1)	p.K312E(1)	prostate(1)	endometrium(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|soft_tissue(1)	15						c.(934-936)Aaa>Gaa		protein phosphatase 2, regulatory subunit B', epsilon isoform							85	84	84					14																	63858555		2203	4300	6503	SO:0001583	missense	5529				signal transduction	cytoplasm|intracellular membrane-bounded organelle|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity	g.chr14:63858555T>C	L76703	CCDS9758.1, CCDS61467.1, CCDS61468.1	14q23.2	2010-06-18	2007-01-22		ENSG00000154001	ENSG00000154001		"Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"	9313	protein-coding gene	gene with protein product		601647	"protein phosphatase 2, regulatory subunit B (B56), epsilon isoform"			7592815	Standard	NM_006246		Approved		uc001xgd.1	Q16537	OTTHUMG00000140341	ENST00000337537.3:c.934A>G	14.37:g.63858555T>C	ENSP00000337641:p.Lys312Glu					PPP2R5E_ENST00000553266.1_5'UTR|PPP2R5E_ENST00000555899.1_Missense_Mutation_p.K312E|PPP2R5E_ENST00000422769.2_Missense_Mutation_p.K236E	p.K312E	NM_006246.2	NP_006237.1	Q16537	2A5E_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00197)|all cancers(60;0.0153)|BRCA - Breast invasive adenocarcinoma(234;0.128)	10	1536	-			312					A4FU37|B7ZAW5|B7ZKK8|B7ZKK9|J3KQN6|Q52LW4	Missense_Mutation	SNP	ENST00000337537.3	37	c.934A>G	CCDS9758.1	.	.	.	.	.	.	.	.	.	.	T	21.3	4.133454	0.77662	.	.	ENSG00000154001	ENST00000337537;ENST00000555899;ENST00000422769	.	.	.	5.39	5.39	0.77823	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.69223	0.3087	M	0.81682	2.555	0.80722	D	1	B;B	0.34290	0.447;0.068	B;B	0.39119	0.291;0.082	T	0.73972	-0.3814	9	0.87932	D	0	-13.3746	15.6906	0.77450	0.0:0.0:0.0:1.0	.	312;312	B7ZKK9;Q16537	.;2A5E_HUMAN	E	312;312;236	.	ENSP00000337641:K312E	K	-	1	0	PPP2R5E	62928308	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.936000	0.87665	2.158000	0.67659	0.533000	0.62120	AAA		0.333	PPP2R5E-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276973.1	NM_006246		40	97	0	0	0	0.859065	0	40	97					C	63858555	T	C	63858555	3	2	27	1	0	0	0	0	1	0	0	0	12396	1763	61	4	489	4	PPP2R5E	14	63858555	Missense_Mutation	SNP	T	TCGA-CH-5761-01A-11D-1576-08		63858555	43490985	56	1304											
FAM82A2	55177	broad.mit.edu	37	chr15	41036294	41036294	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acctcctcagtgagctcacaCatgtcactgtaggctcgggc	8	9	10	14	1	3	1	3	1	0	0	5	1	4	1	2	2	1	3	2	2	1	1	rs201577678		TCGA-CH-5761-01A-11D-1576-08	TCGA-CH-5761-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb9b1203-fc4a-40c9-867a-436a54c61cf3	b8efa698-2592-447e-b038-3b4da4ebf6de	g.chr15:41036294C>T	ENST00000260385.6	-	5	1928	c.861G>A	c.(859-861)atG>atA	p.M287I	RMDN3_ENST00000338376.3_Missense_Mutation_p.M287I|RMDN3_ENST00000558560.1_Intron			Q96TC7	RMD3_HUMAN	regulator of microtubule dynamics 3	287					apoptotic process (GO:0006915)|cell differentiation (GO:0030154)|cellular calcium ion homeostasis (GO:0006874)	integral component of membrane (GO:0016021)|microtubule (GO:0005874)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)											TGAGCTCACACATGTCACTGT	0.557																																						ENST00000260385.6																			0											c.(859-861)atG>atA		regulator of microtubule dynamics 3							113	100	104					15																	41036294		2203	4300	6503	SO:0001583	missense	55177							g.chr15:41036294C>T	AK001441	CCDS10063.1	15q15.1	2013-01-11	2013-01-11	2013-01-11	ENSG00000137824	ENSG00000137824			25550	protein-coding gene	gene with protein product		611873	"family with sequence similarity 82, member A2"	FAM82C, FAM82A2		12975309	Standard	XM_005254531		Approved	FLJ10579, PTPIP51, RMD3	uc001zmp.1	Q96TC7	OTTHUMG00000130066	ENST00000260385.6:c.861G>A	15.37:g.41036294C>T	ENSP00000260385:p.Met287Ile					RMDN3_ENST00000558560.1_Intron|RMDN3_ENST00000338376.3_Missense_Mutation_p.M287I	p.M287I							5	1928	-								A9UMZ9|B3KRR3|Q6ZWE9|Q96H23|Q96SD6|Q9H6G1|Q9NVQ6	Missense_Mutation	SNP	ENST00000260385.6	37	c.861G>A	CCDS10063.1	.	.	.	.	.	.	.	.	.	.	C	29.1	4.976348	0.92982	.	.	ENSG00000137824	ENST00000260385;ENST00000338376;ENST00000426872	T;T	0.44083	0.93;0.93	6.17	5.26	0.73747	.	0.110897	0.85682	N	0.000000	T	0.44159	0.1280	L	0.55213	1.73	0.53688	D	0.999972	P	0.40731	0.728	B	0.41917	0.37	T	0.40136	-0.9579	10	0.46703	T	0.11	-12.1836	15.4171	0.74977	0.0:0.9331:0.0:0.0669	.	287	Q96TC7	RMD3_HUMAN	I	287;287;224	ENSP00000260385:M287I;ENSP00000342493:M287I	ENSP00000260385:M287I	M	-	3	0	FAM82A2	38823586	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.555000	0.73928	1.628000	0.50416	-0.150000	0.13652	ATG		0.557	RMDN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252357.1	NM_018145		4	143	0	0	0	0.150653	0	4	143					T	41036294	C	T	41036294	3	4	27	1	0	0	0	0	1	0	0	0	5631	478	17	3	583	3	FAM82A2	15	41036294	Missense_Mutation	SNP	C	TCGA-CH-5761-01A-11D-1576-08		41036294	61495098	57	1305											
SPATA5L1	79029	broad.mit.edu	37	chr15	45695108	45695108	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	caggcgctcctggcctggtgGctgccttgcacatcgtcggc	3	9	14	15	3	0	0	0	0	0	0	3	0	1	0	3	5	2	3	3	5	0	1			TCGA-CH-5761-01A-11D-1576-08	TCGA-CH-5761-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb9b1203-fc4a-40c9-867a-436a54c61cf3	b8efa698-2592-447e-b038-3b4da4ebf6de	g.chr15:45695108G>A	ENST00000305560.6	+	1	580	c.481G>A	c.(481-483)Gct>Act	p.A161T	GATM_ENST00000458245.5_5'Flank|SPATA5L1_ENST00000559860.1_Missense_Mutation_p.A161T	NM_024063.2	NP_076968.2	Q9BVQ7	SPA5L_HUMAN	spermatogenesis associated 5-like 1	161						cytoplasm (GO:0005737)	ATP binding (GO:0005524)	p.A161T(1)		kidney(2)|large_intestine(3)|lung(1)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	14		Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417)		all cancers(107;7.31e-17)|GBM - Glioblastoma multiforme(94;6.28e-07)		TGGCCTGGTGGCTGCCTTGCA	0.711																																						ENST00000305560.6																			1	Substitution - Missense(1)	p.A161T(1)	prostate(1)	kidney(2)|large_intestine(3)|lung(1)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	14						c.(481-483)Gct>Act		spermatogenesis associated 5-like 1							20	20	20					15																	45695108		2053	4093	6146	SO:0001583	missense	79029					cytoplasm	ATP binding|nucleoside-triphosphatase activity	g.chr15:45695108G>A	AK023232	CCDS10123.1	15q15.1	2010-04-21			ENSG00000171763	ENSG00000171763		"ATPases / AAA-type"	28762	protein-coding gene	gene with protein product						12477932	Standard	NM_024063		Approved	MGC5347, FLJ12286	uc001zve.3	Q9BVQ7	OTTHUMG00000131425	ENST00000305560.6:c.481G>A	15.37:g.45695108G>A	ENSP00000305494:p.Ala161Thr					SPATA5L1_ENST00000559860.1_Missense_Mutation_p.A161T	p.A161T	NM_024063.2	NP_076968.2	Q9BVQ7	SPA5L_HUMAN		all cancers(107;7.31e-17)|GBM - Glioblastoma multiforme(94;6.28e-07)	1	580	+		Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417)	161					C9JHR5|Q9H8W7|Q9HA41	Missense_Mutation	SNP	ENST00000305560.6	37	c.481G>A	CCDS10123.1	.	.	.	.	.	.	.	.	.	.	g	9.108	1.005952	0.19199	.	.	ENSG00000171763	ENST00000305560	D	0.93604	-3.25	4.58	3.67	0.42095	.	0.650048	0.16252	N	0.222643	D	0.89396	0.6703	M	0.63428	1.95	0.24389	N	0.994758	P	0.39480	0.675	B	0.33960	0.173	T	0.78922	-0.2013	10	0.13470	T	0.59	-2.9841	11.5161	0.50522	0.0881:0.0:0.9119:0.0	.	161	Q9BVQ7	SPA5L_HUMAN	T	161	ENSP00000305494:A161T	ENSP00000305494:A161T	A	+	1	0	SPATA5L1	43482400	0.966000	0.33281	0.885000	0.34714	0.128000	0.20619	1.817000	0.39002	1.167000	0.42706	-0.150000	0.13652	GCT		0.711	SPATA5L1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000254218.1	NM_024063		7	37	0	0	0	0.248553	0	7	37					A	45695108	G	A	45695108	3	1	27	1	0	0	0	0	1	0	0	0	15011	1203	42	3	483	3	SPATA5L1	15	45695108	Missense_Mutation	SNP	G	TCGA-CH-5761-01A-11D-1576-08	4658814	45695108	56836284	58	1306			4	6		3	3	62	G		1.102872e-08
SPATA5L1	79029	broad.mit.edu	37	chr15	45695158	45695158	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agtcccgatcccgctgggctGgtcacccctcgtacccgcgt	4	8	11	18	5	1	0	1	0	0	0	4	1	3	0	5	2	1	3	5	2	1	1			TCGA-CH-5761-01A-11D-1576-08	TCGA-CH-5761-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb9b1203-fc4a-40c9-867a-436a54c61cf3	b8efa698-2592-447e-b038-3b4da4ebf6de	g.chr15:45695158G>A	ENST00000305560.6	+	1	630	c.531G>A	c.(529-531)ctG>ctA	p.L177L	GATM_ENST00000458245.5_5'Flank|SPATA5L1_ENST00000559860.1_Silent_p.L177L	NM_024063.2	NP_076968.2	Q9BVQ7	SPA5L_HUMAN	spermatogenesis associated 5-like 1	177						cytoplasm (GO:0005737)	ATP binding (GO:0005524)	p.L177L(1)		kidney(2)|large_intestine(3)|lung(1)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	14		Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417)		all cancers(107;7.31e-17)|GBM - Glioblastoma multiforme(94;6.28e-07)		CCGCTGGGCTGGTCACCCCTC	0.731																																						ENST00000305560.6																			1	Substitution - coding silent(1)	p.L177L(1)	prostate(1)	kidney(2)|large_intestine(3)|lung(1)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	14						c.(529-531)ctG>ctA		spermatogenesis associated 5-like 1							13	16	15					15																	45695158		2154	4226	6380	SO:0001819	synonymous_variant	79029					cytoplasm	ATP binding|nucleoside-triphosphatase activity	g.chr15:45695158G>A	AK023232	CCDS10123.1	15q15.1	2010-04-21			ENSG00000171763	ENSG00000171763		"ATPases / AAA-type"	28762	protein-coding gene	gene with protein product						12477932	Standard	NM_024063		Approved	MGC5347, FLJ12286	uc001zve.3	Q9BVQ7	OTTHUMG00000131425	ENST00000305560.6:c.531G>A	15.37:g.45695158G>A						SPATA5L1_ENST00000559860.1_Silent_p.L177L	p.L177L	NM_024063.2	NP_076968.2	Q9BVQ7	SPA5L_HUMAN		all cancers(107;7.31e-17)|GBM - Glioblastoma multiforme(94;6.28e-07)	1	630	+		Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417)	177					C9JHR5|Q9H8W7|Q9HA41	Silent	SNP	ENST00000305560.6	37	c.531G>A	CCDS10123.1																																																																																				0.731	SPATA5L1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000254218.1	NM_024063		3	26	0	0	0	0.115264	0	3	26					A	45695158	G	A	45695158	2	1	27	1	0	0	0	0	0	0	0	1	15011	1335	47	3		3	SPATA5L1	15	45695158	Silent	SNP	G	TCGA-CH-5761-01A-11D-1576-08	50	45695158	56836234	59	1307			4	6		3	3	62	G		1.102872e-08
SPATA5L1	79029	broad.mit.edu	37	chr15	45695169	45695169	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgctgggctggtcacccctcGtacccgcgtcagccttggcg	3	8	13	17	5	2	0	2	0	0	0	3	0	2	0	4	3	2	3	4	3	1	2	rs375963623	byFrequency	TCGA-CH-5761-01A-11D-1576-08	TCGA-CH-5761-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb9b1203-fc4a-40c9-867a-436a54c61cf3	b8efa698-2592-447e-b038-3b4da4ebf6de	g.chr15:45695169G>T	ENST00000305560.6	+	1	641	c.542G>T	c.(541-543)cGt>cTt	p.R181L	GATM_ENST00000458245.5_5'Flank|SPATA5L1_ENST00000559860.1_Missense_Mutation_p.R181L	NM_024063.2	NP_076968.2	Q9BVQ7	SPA5L_HUMAN	spermatogenesis associated 5-like 1	181						cytoplasm (GO:0005737)	ATP binding (GO:0005524)	p.R181L(1)		kidney(2)|large_intestine(3)|lung(1)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	14		Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417)		all cancers(107;7.31e-17)|GBM - Glioblastoma multiforme(94;6.28e-07)		GTCACCCCTCGTACCCGCGTC	0.736																																						ENST00000305560.6																			1	Substitution - Missense(1)	p.R181L(1)	prostate(1)	kidney(2)|large_intestine(3)|lung(1)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	14						c.(541-543)cGt>cTt		spermatogenesis associated 5-like 1							12	15	14					15																	45695169		2149	4225	6374	SO:0001583	missense	79029					cytoplasm	ATP binding|nucleoside-triphosphatase activity	g.chr15:45695169G>T	AK023232	CCDS10123.1	15q15.1	2010-04-21			ENSG00000171763	ENSG00000171763		"ATPases / AAA-type"	28762	protein-coding gene	gene with protein product						12477932	Standard	NM_024063		Approved	MGC5347, FLJ12286	uc001zve.3	Q9BVQ7	OTTHUMG00000131425	ENST00000305560.6:c.542G>T	15.37:g.45695169G>T	ENSP00000305494:p.Arg181Leu					SPATA5L1_ENST00000559860.1_Missense_Mutation_p.R181L	p.R181L	NM_024063.2	NP_076968.2	Q9BVQ7	SPA5L_HUMAN		all cancers(107;7.31e-17)|GBM - Glioblastoma multiforme(94;6.28e-07)	1	641	+		Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417)	181					C9JHR5|Q9H8W7|Q9HA41	Missense_Mutation	SNP	ENST00000305560.6	37	c.542G>T	CCDS10123.1	.	.	.	.	.	.	.	.	.	.	g	4.949	0.176294	0.09443	.	.	ENSG00000171763	ENST00000305560	D	0.93859	-3.3	4.5	-0.307	0.12777	.	0.483471	0.23148	N	0.051391	D	0.88959	0.6579	L	0.47716	1.5	0.09310	N	1	B	0.23185	0.081	B	0.24006	0.05	T	0.80390	-0.1402	10	0.62326	D	0.03	-14.1093	10.2842	0.43558	0.5449:0.0:0.4551:0.0	.	181	Q9BVQ7	SPA5L_HUMAN	L	181	ENSP00000305494:R181L	ENSP00000305494:R181L	R	+	2	0	SPATA5L1	43482461	0.000000	0.05858	0.108000	0.21378	0.005000	0.04900	0.175000	0.16762	-0.185000	0.10550	-0.829000	0.03081	CGT		0.736	SPATA5L1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000254218.1	NM_024063		3	23	1	0	0.004672	0.115264	0.00524944	3	23					T	45695169	G	T	45695169	3	4	27	1	0	0	0	0	1	0	0	0	15011	1145	40	5	544	5	SPATA5L1	15	45695169	Missense_Mutation	SNP	G	TCGA-CH-5761-01A-11D-1576-08	11	45695169	56836223	60	1308			4	6		3	3	62	G		1.102872e-08
MYO1E	4643	broad.mit.edu	37	chr15	59564611	59564611	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caccactgtgcttgacattgTggctttgccagtggtactgg	6	13	12	10	0	0	1	0	1	0	0	0	1	0	1	2	3	3	3	2	3	1	4			TCGA-CH-5761-01A-11D-1576-08	TCGA-CH-5761-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb9b1203-fc4a-40c9-867a-436a54c61cf3	b8efa698-2592-447e-b038-3b4da4ebf6de	g.chr15:59564611T>G	ENST00000288235.4	-	2	440	c.41A>C	c.(40-42)cAc>cCc	p.H14P	RP11-429D19.1_ENST00000560248.1_RNA	NM_004998.3	NP_004989.2	Q12965	MYO1E_HUMAN	myosin IE	14					actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|endocytosis (GO:0006897)|glomerular basement membrane development (GO:0032836)|glomerular filtration (GO:0003094)|glomerular visceral epithelial cell development (GO:0072015)|in utero embryonic development (GO:0001701)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|post-embryonic hemopoiesis (GO:0035166)|vasculogenesis (GO:0001570)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|motor activity (GO:0003774)|phosphatidylinositol binding (GO:0035091)	p.H14P(1)		breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(6)|lung(10)|pancreas(2)|prostate(1)|urinary_tract(1)	33				all cancers(107;0.207)		CTTGACATTGTGGCTTTGCCA	0.438																																						ENST00000288235.4																			1	Substitution - Missense(1)	p.H14P(1)	prostate(1)	breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(6)|lung(10)|pancreas(2)|prostate(1)|urinary_tract(1)	33						c.(40-42)cAc>cCc		myosin IE							177	150	159					15																	59564611		2190	4290	6480	SO:0001583	missense	4643				actin filament-based movement	myosin complex	actin binding|ATP binding|ATPase activity, coupled|calmodulin binding|microfilament motor activity	g.chr15:59564611T>G	U14391	CCDS32254.1	15q21-q22	2011-09-27				ENSG00000157483		"Myosins / Myosin superfamily : Class I"	7599	protein-coding gene	gene with protein product	"myosin-IC"	601479				8884266	Standard	NM_004998		Approved	MYO1C, HuncM-IC, MGC104638	uc002aga.4	Q12965		ENST00000288235.4:c.41A>C	15.37:g.59564611T>G	ENSP00000288235:p.His14Pro						p.H14P	NM_004998.3	NP_004989.2	Q12965	MYO1E_HUMAN		all cancers(107;0.207)	2	440	-			14			Myosin head-like.		Q14778	Missense_Mutation	SNP	ENST00000288235.4	37	c.41A>C	CCDS32254.1	.	.	.	.	.	.	.	.	.	.	T	16.75	3.210364	0.58343	.	.	ENSG00000157483	ENST00000288235	D	0.95171	-3.63	5.21	5.21	0.72293	Myosin head, motor domain (1);	0.000000	0.85682	D	0.000000	D	0.93779	0.8011	L	0.60455	1.87	0.80722	D	1	P	0.48016	0.904	P	0.46362	0.514	D	0.93345	0.6713	10	0.41790	T	0.15	.	15.0808	0.72113	0.0:0.0:0.0:1.0	.	14	Q12965	MYO1E_HUMAN	P	14	ENSP00000288235:H14P	ENSP00000288235:H14P	H	-	2	0	MYO1E	57351903	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	8.040000	0.89188	1.970000	0.57323	0.533000	0.62120	CAC		0.438	MYO1E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416024.1	NM_004998		62	131	0	0	0	0.870114	0	62	131					G	59564611	T	G	59564611	3	3	27	1	0	0	0	0	1	0	0	0	10072	1696	59	5	3393	5	MYO1E	15	59564611	Missense_Mutation	SNP	T	TCGA-CH-5761-01A-11D-1576-08	13869442	59564611	42966781	61	1309											
VPS33B	26276	broad.mit.edu	37	chr15	91549291	91549291	+	Splice_Site	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccgaatctcattaaacaccTgtgaggacagtaagacaaga	16	8	8	9	1	1	3	1	1	1	2	3	5	2	4	2	1	1	1	2	1	5	2			TCGA-CH-5761-01A-11D-1576-08	TCGA-CH-5761-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb9b1203-fc4a-40c9-867a-436a54c61cf3	b8efa698-2592-447e-b038-3b4da4ebf6de	g.chr15:91549291T>A	ENST00000333371.3	-	12	1206		c.e12-2		VPS33B_ENST00000535843.1_Splice_Site|VPS33B_ENST00000535906.1_Splice_Site	NM_018668.3	NP_061138.3	Q9H267	VP33B_HUMAN	vacuolar protein sorting 33 homolog B (yeast)						lysosome localization (GO:0032418)|melanosome localization (GO:0032400)|membrane fusion (GO:0061025)|platelet alpha granule organization (GO:0070889)|protein transport (GO:0015031)|vesicle docking involved in exocytosis (GO:0006904)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|platelet alpha granule (GO:0031091)		p.?(1)		central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|stomach(2)	16	Lung NSC(78;0.0987)|all_lung(78;0.175)					ATTAAACACCTGTGAGGACAG	0.473																																						ENST00000333371.3																			1	Unknown(1)	p.?(1)	prostate(1)	central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|stomach(2)	16	GRCh37	CS065630	VPS33B	S		c.e12-2		vacuolar protein sorting 33 homolog B (yeast)							52	49	50					15																	91549291		2198	4298	6496	SO:0001630	splice_region_variant	26276				cellular membrane fusion|lysosome localization|melanosome localization|platelet alpha granule organization|protein transport|vesicle docking involved in exocytosis	late endosome membrane|lysosomal membrane|perinuclear region of cytoplasm|platelet alpha granule	protein binding	g.chr15:91549291T>A	AF201694	CCDS10369.1, CCDS73783.1	15q26.1	2006-12-19	2006-12-19		ENSG00000184056	ENSG00000184056			12712	protein-coding gene	gene with protein product		608552	"vacuolar protein sorting 33B (yeast homolog)"			8996080	Standard	XM_005254887		Approved	FLJ14848	uc002bqp.1	Q9H267	OTTHUMG00000149835	ENST00000333371.3:c.853-2A>T	15.37:g.91549291T>A						VPS33B_ENST00000535843.1_Splice_Site|VPS33B_ENST00000535906.1_Splice_Site		NM_018668.3	NP_061138.3	Q9H267	VP33B_HUMAN			12	1206	-	Lung NSC(78;0.0987)|all_lung(78;0.175)							B3KQF6|Q96K14|Q9NRP6|Q9NSF3	Splice_Site	SNP	ENST00000333371.3	37		CCDS10369.1	.	.	.	.	.	.	.	.	.	.	T	17.98	3.520348	0.64747	.	.	ENSG00000184056	ENST00000333371;ENST00000535906;ENST00000535843;ENST00000537510	.	.	.	5.54	5.54	0.83059	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.5052	0.75731	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	VPS33B	89350295	1.000000	0.71417	0.983000	0.44433	0.563000	0.35712	5.146000	0.64845	2.326000	0.78906	0.533000	0.62120	.		0.473	VPS33B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313496.1	NM_018668	Intron	3	77	0	0	0	0.115264	0	3	77					A	91549291	T	A	91549291	5	1	27	1	0	0	0	0	0	0	1	0	17199	1594	55	5	1050	5	VPS33B	15	91549291	Splice_Site	SNP	T	TCGA-CH-5761-01A-11D-1576-08	31984680	91549291	10982101	62	1310											
PRM3	5620	broad.mit.edu	37	chr16	11367307	11367307	+	IGR	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cttcctcctcttcctcgcccGctgatgacaaggagaagtta	8	11	8	14	2	1	3	0	2	1	1	5	4	4	3	4	1	0	2	4	1	3	3			TCGA-CH-5761-01A-11D-1576-08	TCGA-CH-5761-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb9b1203-fc4a-40c9-867a-436a54c61cf3	b8efa698-2592-447e-b038-3b4da4ebf6de	g.chr16:11367307G>A	ENST00000241808.4	-	0	680				RMI2_ENST00000572173.1_Intron|PRM3_ENST00000327157.2_Missense_Mutation_p.A49V|SNORA48_ENST00000390926.1_RNA	NM_002762.2	NP_002753.2	P04554	PRM2_HUMAN	protamine 2						cell differentiation (GO:0030154)|chromosome condensation (GO:0030261)|DNA packaging (GO:0006323)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.0?(1)		central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(2)	7						ttcctcGCCCGCTGATGACAA	0.617																																						ENST00000327157.2																			1	Whole gene deletion(1)	p.0?(1)	haematopoietic_and_lymphoid_tissue(1)								c.(145-147)gCg>gTg		protamine 3							10	13	12					16																	11367307		2094	4217	6311	SO:0001628	intergenic_variant	58531				cell differentiation|chromosome condensation|multicellular organismal development|spermatogenesis	nucleosome|nucleus	DNA binding	g.chr16:11367307G>A		CCDS42118.1, CCDS66944.1	16p13.13	2013-10-17			ENSG00000122304	ENSG00000122304			9448	protein-coding gene	gene with protein product	"cancer/testis antigen family 94, member 2"	182890				16632464	Standard	NM_001286356		Approved	CT94.2	uc002dau.1	P04554	OTTHUMG00000172317		16.37:g.11367307G>A						RMI2_ENST00000572173.1_Intron	p.A49V	NM_021247.1	NP_067070.1	Q9NNZ6	PRM3_HUMAN			1	145	-			49					Q6ZMM0	Missense_Mutation	SNP	ENST00000241808.4	37	c.146C>T	CCDS42118.1	.	.	.	.	.	.	.	.	.	.	G	5.364	0.252367	0.10185	.	.	ENSG00000178257	ENST00000327157	T	0.46063	0.88	4.08	0.619	0.17630	.	0.382752	0.19555	N	0.111479	T	0.18800	0.0451	N	0.08118	0	0.20196	N	0.999923	B	0.25743	0.133	B	0.24006	0.05	T	0.12400	-1.0549	10	0.48119	T	0.1	-17.0734	4.923	0.13880	0.0:0.1:0.3773:0.5227	.	49	Q9NNZ6	PRM3_HUMAN	V	49	ENSP00000325638:A49V	ENSP00000325638:A49V	A	-	2	0	PRM3	11274808	0.019000	0.18553	0.003000	0.11579	0.003000	0.03518	0.939000	0.28978	0.076000	0.16826	-0.384000	0.06662	GCG		0.617	PRM2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417808.1			7	3	0	0	0	0.27861	0	7	3					A	11367307	G	A	11367307	1	1	27	0	1	0	0	0	0	0	0	0	12534	1087	38	1		1	PRM3	16	11367307	IGR	SNP	G	TCGA-CH-5761-01A-11D-1576-08		11367307	78987446	63	1311											
GPT2	84706	broad.mit.edu	37	chr16	46943652	46943652	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tcacggacaggtgtgatgatCcccatcccacaatatcccct	10	9	7	15	1	1	2	1	2	0	0	4	3	4	3	5	2	0	0	5	2	2	1			TCGA-CH-5761-01A-11D-1576-08	TCGA-CH-5761-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb9b1203-fc4a-40c9-867a-436a54c61cf3	b8efa698-2592-447e-b038-3b4da4ebf6de	g.chr16:46943652C>T	ENST00000340124.4	+	6	745	c.633C>T	c.(631-633)atC>atT	p.I211I	GPT2_ENST00000440783.2_Silent_p.I111I	NM_133443.2	NP_597700.1	Q8TD30	ALAT2_HUMAN	glutamic pyruvate transaminase (alanine aminotransferase) 2	211					2-oxoglutarate metabolic process (GO:0006103)|cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|L-alanine catabolic process (GO:0042853)|L-alanine metabolic process (GO:0042851)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)	L-alanine:2-oxoglutarate aminotransferase activity (GO:0004021)|pyridoxal phosphate binding (GO:0030170)	p.I211I(1)		NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(2)	23		all_cancers(37;0.0276)|all_epithelial(9;0.0498)|all_lung(18;0.0522)			L-Alanine(DB00160)|Phenelzine(DB00780)	GTGTGATGATCCCCATCCCAC	0.537																																						ENST00000440783.2																			1	Substitution - coding silent(1)	p.I211I(1)	prostate(1)	NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(2)	23						c.(331-333)atC>atT		glutamic pyruvate transaminase (alanine aminotransferase) 2	L-Alanine(DB00160)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)						78	75	76					16																	46943652		2203	4300	6503	SO:0001819	synonymous_variant	84706				2-oxoglutarate metabolic process|cellular amino acid biosynthetic process|L-alanine metabolic process	mitochondrial matrix	L-alanine:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding	g.chr16:46943652C>T		CCDS10725.1, CCDS45478.1	16q12.1	2008-02-05			ENSG00000166123	ENSG00000166123	2.6.1.2		18062	protein-coding gene	gene with protein product		138210					Standard	NM_133443		Approved	ALT2	uc002eel.3	Q8TD30	OTTHUMG00000132541	ENST00000340124.4:c.633C>T	16.37:g.46943652C>T						GPT2_ENST00000340124.4_Silent_p.I211I	p.I111I	NM_001142466.1	NP_001135938.1	Q8TD30	ALAT2_HUMAN			6	998	+		all_cancers(37;0.0276)|all_epithelial(9;0.0498)|all_lung(18;0.0522)	211					Q8N9E2	Silent	SNP	ENST00000340124.4	37	c.333C>T	CCDS10725.1																																																																																				0.537	GPT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255741.2			118	81	0	0	0	0.870114	0	118	81					T	46943652	C	T	46943652	2	4	27	1	0	0	0	0	0	0	0	1	6738	845	30	3		3	GPT2	16	46943652	Silent	SNP	C	TCGA-CH-5761-01A-11D-1576-08	35576345	46943652	43411101	64	1312											
ITFG1	81533	broad.mit.edu	37	chr16	47189674	47189674	+	Frame_Shift_Del	DEL	C	C	-																															gtgggcttcttgtcgtttttCtctatcatctgctttctgaa																										TCGA-CH-5761-01A-11D-1576-08	TCGA-CH-5761-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb9b1203-fc4a-40c9-867a-436a54c61cf3	b8efa698-2592-447e-b038-3b4da4ebf6de	g.chr16:47189674delC	ENST00000320640.6	-	18	2023	c.1795delG	c.(1795-1797)gaafs	p.E599fs	RP11-329J18.2_ENST00000564705.1_RNA|RP11-329J18.2_ENST00000565694.1_RNA|ITFG1_ENST00000544001.2_3'UTR|ITFG1_ENST00000568047.1_5'UTR	NM_030790.3	NP_110417.2	Q8TB96	TIP_HUMAN	integrin alpha FG-GAP repeat containing 1	599						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	19		all_cancers(37;0.0613)|all_lung(18;0.0543)|Lung NSC(13;0.227)				TGTCGTTTTTCTCTATCATCT	0.323																																						ENST00000320640.6																			0				breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	19						c.(1795-1797)aafs		integrin alpha FG-GAP repeat containing 1							153	165	161					16																	47189674		2202	4300	6502	SO:0001589	frameshift_variant	81533					extracellular region|integral to membrane		g.chr16:47189674delC	AF503339	CCDS10728.1	16q12.1	2008-02-05			ENSG00000129636	ENSG00000129636			30697	protein-coding gene	gene with protein product	"T cell immunomodulatory protein"	611803				12598909	Standard	NM_030790		Approved	CDA08, TIP	uc002eet.3	Q8TB96	OTTHUMG00000133103	ENST00000320640.6:c.1795delG	16.37:g.47189674delC	ENSP00000319918:p.Glu599fs					RP11-329J18.2_ENST00000564705.1_RNA|ITFG1_ENST00000544001.2_3'UTR|ITFG1_ENST00000568047.1_5'UTR|RP11-329J18.2_ENST00000565694.1_RNA	p.E599fs	NM_030790.3	NP_110417.2	Q8TB96	TIP_HUMAN			18	2023	-		all_cancers(37;0.0613)|all_lung(18;0.0543)|Lung NSC(13;0.227)	599					Q96SR4|Q9BRE2|Q9H2V9	Frame_Shift_Del	DEL	ENST00000320640.6	37	c.1795delG	CCDS10728.1																																																																																				0.323	ITFG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256768.3	NM_030790		208	362						208	362	---	---	---	---	-	47189674	C	-	47189674	7	5	27	1	0	1	0	1	0	0	0	0	7869	922	32	0	47	0	ITFG1	16	47189674	Frame_Shift_Del	DEL	C	TCGA-CH-5761-01A-11D-1576-08	246022	47189674	43165079	65	1313			5	7		2	2	17	N	C	3.927986e-05
ITFG1	81533	broad.mit.edu	37	chr16	47189690	47189690	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttctctatcatctgctttCtgaaaaagaattttagactc	11	18	4	8	0	4	3	1	1	3	2	6	3	4	3	0	0	1	1	0	0	5	6			TCGA-CH-5761-01A-11D-1576-08	TCGA-CH-5761-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb9b1203-fc4a-40c9-867a-436a54c61cf3	b8efa698-2592-447e-b038-3b4da4ebf6de	g.chr16:47189690C>A	ENST00000320640.6	-	18	2008		c.e18-1		RP11-329J18.2_ENST00000564705.1_RNA|RP11-329J18.2_ENST00000565694.1_RNA|ITFG1_ENST00000544001.2_Splice_Site|ITFG1_ENST00000568047.1_Splice_Site	NM_030790.3	NP_110417.2	Q8TB96	TIP_HUMAN	integrin alpha FG-GAP repeat containing 1							extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)		p.?(1)		breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	19		all_cancers(37;0.0613)|all_lung(18;0.0543)|Lung NSC(13;0.227)				CATCTGCTTTCTGAAAAAGAA	0.333																																						ENST00000320640.6																			1	Unknown(1)	p.?(1)	prostate(1)	breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	19						c.e18-1		integrin alpha FG-GAP repeat containing 1							124	134	131					16																	47189690		2202	4300	6502	SO:0001630	splice_region_variant	81533					extracellular region|integral to membrane		g.chr16:47189690C>A	AF503339	CCDS10728.1	16q12.1	2008-02-05			ENSG00000129636	ENSG00000129636			30697	protein-coding gene	gene with protein product	"T cell immunomodulatory protein"	611803				12598909	Standard	NM_030790		Approved	CDA08, TIP	uc002eet.3	Q8TB96	OTTHUMG00000133103	ENST00000320640.6:c.1780-1G>T	16.37:g.47189690C>A						RP11-329J18.2_ENST00000565694.1_RNA|ITFG1_ENST00000544001.2_Splice_Site|ITFG1_ENST00000568047.1_Splice_Site|RP11-329J18.2_ENST00000564705.1_RNA		NM_030790.3	NP_110417.2	Q8TB96	TIP_HUMAN			18	2008	-		all_cancers(37;0.0613)|all_lung(18;0.0543)|Lung NSC(13;0.227)						Q96SR4|Q9BRE2|Q9H2V9	Splice_Site	SNP	ENST00000320640.6	37		CCDS10728.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.112497	0.77210	.	.	ENSG00000129636	ENST00000320640;ENST00000537184;ENST00000542691;ENST00000544001	.	.	.	4.98	4.98	0.66077	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.6105	0.91283	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ITFG1	45747191	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.864000	0.75494	2.470000	0.83445	0.563000	0.77884	.		0.333	ITFG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256768.3	NM_030790	Intron	132	275	1	0	4.54241e-80	0.870114	5.89923e-80	132	275					A	47189690	C	A	47189690	5	1	27	1	0	0	0	0	0	0	1	0	7869	927	32	5	63	5	ITFG1	16	47189690	Splice_Site	SNP	C	TCGA-CH-5761-01A-11D-1576-08	16	47189690	43165063	66	1314			5	7		2	2	17	N	C	3.927986e-05
DVL2	1856	broad.mit.edu	37	chr17	7131298	7131299	+	Frame_Shift_Ins	INS	-	-	G																															ccctgagtgtcactcacttcINSgggggagagtgaaataggcc																								rs145282702		TCGA-CH-5761-01A-11D-1576-08	TCGA-CH-5761-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb9b1203-fc4a-40c9-867a-436a54c61cf3	b8efa698-2592-447e-b038-3b4da4ebf6de	g.chr17:7131298_7131299insG	ENST00000005340.5	-	10	1381_1382	c.1099_1100insC	c.(1099-1101)cgafs	p.R367fs	DVL2_ENST00000574642.1_5'Flank|DVL2_ENST00000575458.1_Frame_Shift_Ins_p.R361fs	NM_004422.2	NP_004413.1	O14641	DVL2_HUMAN	dishevelled segment polarity protein 2	367					canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in regulation of cell proliferation (GO:0044340)|cell migration in hindbrain (GO:0021535)|cellular protein localization (GO:0034613)|cochlea morphogenesis (GO:0090103)|convergent extension (GO:0060026)|convergent extension involved in neural plate elongation (GO:0022007)|heart development (GO:0007507)|heart morphogenesis (GO:0003007)|hippo signaling (GO:0035329)|neural tube closure (GO:0001843)|non-canonical Wnt signaling pathway (GO:0035567)|outflow tract morphogenesis (GO:0003151)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription, DNA-templated (GO:0045893)|segment specification (GO:0007379)|transcription from RNA polymerase II promoter (GO:0006366)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	apical part of cell (GO:0045177)|cell cortex (GO:0005938)|clathrin-coated endocytic vesicle (GO:0045334)|clathrin-coated vesicle (GO:0030136)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	frizzled binding (GO:0005109)|identical protein binding (GO:0042802)			breast(2)|endometrium(3)|kidney(1)|large_intestine(11)|lung(7)|skin(1)	25						TCACTCACTTCGGGGGAGAGTG	0.644																																						ENST00000005340.5																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(11)|lung(7)|skin(1)	25						c.(1099-1101)aaafs		dishevelled segment polarity protein 2																																				SO:0001589	frameshift_variant	1856				canonical Wnt receptor signaling pathway involved in regulation of cell proliferation|intracellular signal transduction|neural tube closure|positive regulation of JUN kinase activity|positive regulation of protein phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|segment specification|transcription from RNA polymerase II promoter	cytosol|nucleus|plasma membrane	frizzled binding|identical protein binding|signal transducer activity	g.chr17:7131298_7131299insG	BC014844	CCDS11091.1	17p13.1	2013-05-22	2013-05-22		ENSG00000004975	ENSG00000004975		"Dishevelled homologs"	3086	protein-coding gene	gene with protein product		602151	"dishevelled 2 (homologous to Drosophila dsh)", "dishevelled, dsh homolog 2 (Drosophila)"			8662242	Standard	NM_004422		Approved		uc002gez.1	O14641	OTTHUMG00000102155	ENST00000005340.5:c.1100dupC	17.37:g.7131303_7131303dupG	ENSP00000005340:p.Arg367fs					DVL2_ENST00000575458.1_Frame_Shift_Ins_p.K361fs	p.K367fs	NM_004422.2	NP_004413.1	O14641	DVL2_HUMAN			10	1381_1382	-			367					D3DTN3|Q53XM0	Frame_Shift_Ins	INS	ENST00000005340.5	37	c.1099_1100insC	CCDS11091.1																																																																																				0.644	DVL2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000219999.2	NM_004422		14	30						14	30	---	---	---	---	G	7131299	-	G	7131298	7	5	27	1	0	1	1	0	0	0	0	0	4836	884	31	0	1134	0	DVL2	17	7131298	Frame_Shift_Ins	INS	-	TCGA-CH-5761-01A-11D-1576-08		7131298	74063912	67	1315											
TP53	7157	broad.mit.edu	37	chr17	7578526	7578526	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcaggtcttggccagttggCaaaacatcttgttgagggca	9	10	14	8	0	2	1	0	1	2	0	2	1	2	1	1	5	1	5	1	5	2	4	rs587781991		TCGA-CH-5761-01A-11D-1576-08	TCGA-CH-5761-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb9b1203-fc4a-40c9-867a-436a54c61cf3	b8efa698-2592-447e-b038-3b4da4ebf6de	g.chr17:7578526C>A	ENST00000269305.4	-	5	593	c.404G>T	c.(403-405)tGc>tTc	p.C135F	TP53_ENST00000574684.1_5'Flank|TP53_ENST00000413465.2_Missense_Mutation_p.C135F|TP53_ENST00000455263.2_Missense_Mutation_p.C135F|TP53_ENST00000420246.2_Missense_Mutation_p.C135F|TP53_ENST00000359597.4_Missense_Mutation_p.C135F|TP53_ENST00000445888.2_Missense_Mutation_p.C135F	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	135	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		C -> F (in sporadic cancers; somatic mutation).|C -> G (in sporadic cancers; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in sporadic cancers; somatic mutation).|C -> T (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in sporadic cancers; somatic mutation; decreased E6-mediated binding to E6-AP).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.C135Y(60)|p.C135F(43)|p.C135S(8)|p.0?(8)|p.C42Y(4)|p.C3Y(4)|p.C135fs*9(3)|p.N131fs*27(2)|p.C3F(2)|p.C42F(2)|p.F134_T140>S(1)|p.K132_A138delKMFCQLA(1)|p.S127_Q136del10(1)|p.C135T(1)|p.V73fs*9(1)|p.C135fs*15(1)|p.C135fs*14(1)|p.Y126fs*11(1)|p.C3fs*9(1)|p.C42fs*9(1)|p.C135_A138delCQLA(1)|p.C42S(1)|p.M133fs*13(1)|p.C3S(1)|p.C135_T140delCQLAKT(1)|p.Q136fs*13(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GGCCAGTTGGCAAAACATCTT	0.572		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"Mis, N, F"	tumor protein p53			"L, E, M, O"		"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"	"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"		152	Substitution - Missense(126)|Deletion - Frameshift(10)|Whole gene deletion(8)|Deletion - In frame(4)|Insertion - Frameshift(3)|Complex - deletion inframe(1)	p.C135Y(60)|p.C135F(43)|p.C135S(8)|p.0?(8)|p.C42Y(4)|p.C3Y(4)|p.C135fs*9(3)|p.N131fs*27(2)|p.C3F(2)|p.C42F(2)|p.F134_T140>S(1)|p.K132_A138delKMFCQLA(1)|p.S127_Q136del10(1)|p.C135T(1)|p.V73fs*9(1)|p.C135fs*15(1)|p.C135fs*14(1)|p.Y126fs*11(1)|p.C3fs*9(1)|p.C42fs*9(1)|p.C135_A138delCQLA(1)|p.C42S(1)|p.M133fs*13(1)|p.C3S(1)|p.C135_T140delCQLAKT(1)|p.Q136fs*13(1)	large_intestine(19)|breast(17)|oesophagus(16)|haematopoietic_and_lymphoid_tissue(13)|urinary_tract(13)|upper_aerodigestive_tract(12)|prostate(11)|lung(9)|ovary(9)|liver(7)|bone(6)|stomach(5)|central_nervous_system(5)|soft_tissue(2)|autonomic_ganglia(2)|eye(1)|kidney(1)|pancreas(1)|skin(1)|NS(1)|pituitary(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185						c.(403-405)tGc>tTc	Other conserved DNA damage response genes	tumor protein p53							50	50	50					17																	7578526		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578526C>A	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"Li-Fraumeni syndrome"	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.404G>T	17.37:g.7578526C>A	ENSP00000269305:p.Cys135Phe	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_ENST00000445888.2_Missense_Mutation_p.C135F|TP53_ENST00000413465.2_Missense_Mutation_p.C135F|TP53_ENST00000455263.2_Missense_Mutation_p.C135F|TP53_ENST00000359597.4_Missense_Mutation_p.C135F|TP53_ENST00000269305.4_Missense_Mutation_p.C135F	p.C135F	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	5	536	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	135		C -> F (in sporadic cancers; somatic mutation).|C -> G (in sporadic cancers; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in sporadic cancers; somatic mutation).|C -> T (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in sporadic cancers; somatic mutation; decreased E6-mediated binding to E6-AP).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.404G>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	24.8	4.574878	0.86542	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315;ENST00000508793	D;D;D;D;D;D;D;D;D	0.99797	-6.79;-6.79;-6.79;-6.79;-6.79;-6.79;-6.79;-6.79;-6.79	5.48	5.48	0.80851	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99771	0.9906	M	0.85945	2.785	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;0.993;1.0;1.0;1.0;1.0	D;D;P;D;D;D;D	0.97110	0.997;1.0;0.904;1.0;1.0;1.0;1.0	D	0.97349	0.9962	10	0.72032	D	0.01	-26.815	17.2272	0.86973	0.0:1.0:0.0:0.0	.	96;135;135;42;135;135;135	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	F	135;135;135;135;135;135;124;42;3;42;3;135	ENSP00000410739:C135F;ENSP00000352610:C135F;ENSP00000269305:C135F;ENSP00000398846:C135F;ENSP00000391127:C135F;ENSP00000391478:C135F;ENSP00000425104:C3F;ENSP00000423862:C42F;ENSP00000424104:C135F	ENSP00000269305:C135F	C	-	2	0	TP53	7519251	1.000000	0.71417	1.000000	0.80357	0.794000	0.44872	7.772000	0.85439	2.733000	0.93635	0.655000	0.94253	TGC		0.572	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		23	30	1	0	4.26978e-12	0.654019	5.20704e-12	23	30					A	7578526	C	A	7578526	3	1	27	1	0	0	0	0	1	0	0	0	16378	710	25	5	894	5	TP53	17	7578526	Missense_Mutation	SNP	C	TCGA-CH-5761-01A-11D-1576-08	447228	7578526	73616684	68	1316											
HOXB2	3212	broad.mit.edu	37	chr17	46622154	46622154	+	Silent	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	ggaggaggaggaattaatgtCgactccttgattgatgaagt	12	11	14	4	1	0	3	0	3	0	0	2	8	1	7	1	4	0	0	1	4	3	3			TCGA-CH-5761-01A-11D-1576-08	TCGA-CH-5761-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb9b1203-fc4a-40c9-867a-436a54c61cf3	b8efa698-2592-447e-b038-3b4da4ebf6de	g.chr17:46622154C>G	ENST00000330070.4	-	1	1287	c.120G>C	c.(118-120)tcG>tcC	p.S40S	HOXB2_ENST00000504772.3_5'Flank|HOXB-AS1_ENST00000508688.1_RNA|HOXB-AS1_ENST00000502764.2_RNA|HOXB-AS1_ENST00000504972.3_RNA|HOXB-AS1_ENST00000435312.1_RNA	NM_002145.3	NP_002136.1	P14652	HXB2_HUMAN	homeobox B2	40					anterior/posterior pattern specification (GO:0009952)|blood circulation (GO:0008015)|dorsal/ventral pattern formation (GO:0009953)|embryonic skeletal system morphogenesis (GO:0048704)|facial nerve structural organization (GO:0021612)|morphogenesis of an epithelial sheet (GO:0002011)|multicellular organismal development (GO:0007275)|neural nucleus development (GO:0048857)|rhombomere 3 development (GO:0021569)|rhombomere 4 development (GO:0021570)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.S40S(1)		NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	11						GAATTAATGTCGACTCCTTGA	0.557																																						ENST00000330070.4																			1	Substitution - coding silent(1)	p.S40S(1)	prostate(1)	NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	11						c.(118-120)tcG>tcC		homeobox B2							50	59	56					17																	46622154		2203	4300	6503	SO:0001819	synonymous_variant	3212				blood circulation	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr17:46622154C>G		CCDS11527.1	17q21.32	2012-02-22	2005-12-22		ENSG00000173917	ENSG00000173917		"Homeoboxes / ANTP class : HOXL subclass"	5113	protein-coding gene	gene with protein product		142967	"homeo box B2"	HOX2, HOX2H		1973146, 1358459	Standard	XM_005257276		Approved		uc002inm.3	P14652	OTTHUMG00000159930	ENST00000330070.4:c.120G>C	17.37:g.46622154C>G						HOXB-AS1_ENST00000435312.1_RNA|HOXB-AS1_ENST00000504972.3_RNA	p.S40S	NM_002145.3	NP_002136.1	P14652	HXB2_HUMAN			1	1287	-			40					P10913|P17485	Silent	SNP	ENST00000330070.4	37	c.120G>C	CCDS11527.1																																																																																				0.557	HOXB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358384.2			11	126	0	0	0	0.411799	0	11	126					G	46622154	C	G	46622154	2	3	27	1	0	0	0	0	0	0	0	1	7301	871	31	5		5	HOXB2	17	46622154	Silent	SNP	C	TCGA-CH-5761-01A-11D-1576-08	39043628	46622154	34573056	69	1317											
KIAA0802	23255	broad.mit.edu	37	chr18	8798101	8798101	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cctgcctgtttcagggtgaaCatccagagaccctctccagg	8	9	10	14	0	2	2	1	1	1	1	4	3	3	2	5	2	2	1	5	2	1	1			TCGA-CH-5761-01A-11D-1576-08	TCGA-CH-5761-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb9b1203-fc4a-40c9-867a-436a54c61cf3	b8efa698-2592-447e-b038-3b4da4ebf6de	g.chr18:8798101C>A	ENST00000306329.11	+	8	3205	c.3205C>A	c.(3205-3207)Cat>Aat	p.H1069N	SOGA2_ENST00000359865.3_Missense_Mutation_p.H750N|SOGA2_ENST00000400050.3_Missense_Mutation_p.H709N|SOGA2_ENST00000517570.1_Missense_Mutation_p.H709N|SOGA2_ENST00000518815.1_Missense_Mutation_p.H65N|SOGA2_ENST00000306285.7_Missense_Mutation_p.H65N														p.H750N(1)									TCAGGGTGAACATCCAGAGAC	0.547																																						ENST00000359865.3																			1	Substitution - Missense(1)	p.H750N(1)	prostate(1)								c.(2248-2250)Cat>Aat		SOGA family member 2							46	41	43					18																	8798101		2203	4300	6503	SO:0001583	missense	23255							g.chr18:8798101C>A																												ENST00000306329.11:c.3205C>A	18.37:g.8798101C>A	ENSP00000305027:p.His1069Asn					SOGA2_ENST00000518815.1_Missense_Mutation_p.H65N|SOGA2_ENST00000517570.1_Missense_Mutation_p.H709N|SOGA2_ENST00000306329.11_Missense_Mutation_p.H1069N|SOGA2_ENST00000306285.7_Missense_Mutation_p.H65N|SOGA2_ENST00000400050.3_Missense_Mutation_p.H709N	p.H750N	NM_015210.3	NP_056025.2	Q9Y4B5	CC165_HUMAN			10	2390	+			1060						Missense_Mutation	SNP	ENST00000306329.11	37	c.2248C>A		.	.	.	.	.	.	.	.	.	.	C	9.799	1.180012	0.21787	.	.	ENSG00000168502	ENST00000306329;ENST00000517570;ENST00000359865;ENST00000400050;ENST00000306285	T;T;T;T	0.53423	0.62;0.62;0.62;0.62	5.28	5.28	0.74379	.	0.257624	0.28119	N	0.016539	T	0.40347	0.1113	L	0.43152	1.355	0.26750	N	0.970219	B;B	0.12630	0.006;0.006	B;B	0.11329	0.003;0.006	T	0.16012	-1.0417	10	0.15499	T	0.54	-7.4936	16.0043	0.80349	0.0:1.0:0.0:0.0	.	1060;750	Q9Y4B5;Q9Y4B5-3	CC165_HUMAN;.	N	771;709;750;709;65	ENSP00000429556:H709N;ENSP00000352927:H750N;ENSP00000382924:H709N;ENSP00000303670:H65N	ENSP00000303670:H65N	H	+	1	0	CCDC165	8788101	0.998000	0.40836	0.967000	0.41034	0.149000	0.21700	2.951000	0.49089	2.630000	0.89119	0.650000	0.86243	CAT		0.547	SOGA2-015	PUTATIVE	basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000444141.1			3	59	1	0	0.00909568	0.150653	0.00999525	3	59					A	8798101	C	A	8798101	3	1	27	1	0	0	0	0	1	0	0	0	8194	478	17	5	2278	5	KIAA0802	18	8798101	Missense_Mutation	SNP	C	TCGA-CH-5761-01A-11D-1576-08		8798101	69279147	70	1318											
SERPINB2	5055	broad.mit.edu	37	chr18	61558743	61558743	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	attcaagcatctggcaaaagCaagccccacccagaacctct	14	6	6	15	0	3	1	1	0	2	1	3	1	3	1	4	1	4	3	4	1	5	1	rs376346521		TCGA-CH-5761-01A-11D-1576-08	TCGA-CH-5761-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb9b1203-fc4a-40c9-867a-436a54c61cf3	b8efa698-2592-447e-b038-3b4da4ebf6de	g.chr18:61558743C>G	ENST00000299502.4	+	2	145	c.65C>G	c.(64-66)gCa>gGa	p.A22G	SERPINB2_ENST00000457692.1_Missense_Mutation_p.A22G	NM_002575.2	NP_002566.1	P05120	PAI2_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 2	22					blood coagulation (GO:0007596)|fibrinolysis (GO:0042730)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.A22G(1)		NS(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|liver(1)|lung(12)|prostate(2)|skin(2)|stomach(1)	32		Esophageal squamous(42;0.131)			Tenecteplase(DB00031)|Urokinase(DB00013)	CTGGCAAAAGCAAGCCCCACC	0.502																																						ENST00000457692.1																			1	Substitution - Missense(1)	p.A22G(1)	prostate(1)	NS(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|liver(1)|lung(12)|prostate(2)|skin(2)|stomach(1)	32						c.(64-66)gCa>gGa		serpin peptidase inhibitor, clade B (ovalbumin), member 2	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)|Urokinase(DB00013)	C	GLY/ALA,GLY/ALA	0,4406		0,0,2203	98	92	94		65,65	-3.8	0	18		94	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	SERPINB2	NM_001143818.1,NM_002575.2	60,60	0,1,6502	GG,GC,CC		0.0116,0.0,0.0077	benign,benign	22/416,22/416	61558743	1,13005	2203	4300	6503	SO:0001583	missense	5055				anti-apoptosis|blood coagulation|fibrinolysis|regulation of proteolysis	extracellular space|Golgi apparatus|plasma membrane	serine-type endopeptidase inhibitor activity	g.chr18:61558743C>G	Y00630	CCDS11989.1	18q21.3	2014-02-18	2005-08-18		ENSG00000197632	ENSG00000197632		"Serine (or cysteine) peptidase inhibitors"	8584	protein-coding gene	gene with protein product		173390	"serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 2"	PLANH2, PAI2		24172014	Standard	NM_002575		Approved	HsT1201	uc002ljo.3	P05120	OTTHUMG00000060592	ENST00000299502.4:c.65C>G	18.37:g.61558743C>G	ENSP00000299502:p.Ala22Gly					SERPINB2_ENST00000299502.4_Missense_Mutation_p.A22G	p.A22G	NM_001143818.1	NP_001137290.1	P05120	PAI2_HUMAN			3	398	+		Esophageal squamous(42;0.131)	22					Q96E96	Missense_Mutation	SNP	ENST00000299502.4	37	c.65C>G	CCDS11989.1	.	.	.	.	.	.	.	.	.	.	C	1.196	-0.633763	0.03584	0.0	1.16E-4	ENSG00000197632	ENST00000404622;ENST00000299502;ENST00000457692;ENST00000413956;ENST00000443281	D;D;D;D;D	0.84298	-1.83;-1.83;-1.83;-1.83;-1.83	5.29	-3.82	0.04281	Serpin domain (3);	3.027290	0.00888	N	0.002207	T	0.71409	0.3336	N	0.20328	0.56	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.55179	-0.8181	10	0.32370	T	0.25	.	2.7491	0.05275	0.1224:0.2667:0.1203:0.4906	.	22	P05120	PAI2_HUMAN	G	22	ENSP00000385397:A22G;ENSP00000299502:A22G;ENSP00000401645:A22G;ENSP00000402386:A22G;ENSP00000397096:A22G	ENSP00000299502:A22G	A	+	2	0	SERPINB2	59709723	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.540000	0.02200	-0.738000	0.04817	-0.312000	0.09012	GCA		0.502	SERPINB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000134009.1	NM_002575		41	36	0	0	0	0.827153	0	41	36					G	61558743	C	G	61558743	3	3	27	1	0	0	0	0	1	0	0	0	14101	710	25	5	67	5	SERPINB2	18	61558743	Missense_Mutation	SNP	C	TCGA-CH-5761-01A-11D-1576-08	52760642	61558743	16518505	71	1319											
DUS3L	56931	broad.mit.edu	37	chr19	5787682	5787682	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcggctcagcagctcggcaCacttggtcatggtgtcgggg	5	9	16	11	3	2	0	2	0	0	0	4	0	2	0	0	6	3	4	0	6	0	1			TCGA-CH-5761-01A-11D-1576-08	TCGA-CH-5761-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb9b1203-fc4a-40c9-867a-436a54c61cf3	b8efa698-2592-447e-b038-3b4da4ebf6de	g.chr19:5787682C>T	ENST00000309061.7	-	6	1226	c.1130G>A	c.(1129-1131)tGt>tAt	p.C377Y	DUS3L_ENST00000320699.8_Missense_Mutation_p.C135Y|CTB-54O9.9_ENST00000586012.1_5'Flank|PRR22_ENST00000419421.2_5'Flank|DUS3L_ENST00000590681.1_5'Flank	NM_020175.2	NP_064560.2	Q96G46	DUS3L_HUMAN	dihydrouridine synthase 3-like (S. cerevisiae)	377							flavin adenine dinucleotide binding (GO:0050660)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|tRNA dihydrouridine synthase activity (GO:0017150)	p.C377Y(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(2)	14						CAGCTCGGCACACTTGGTCAT	0.627																																						ENST00000309061.7																			1	Substitution - Missense(1)	p.C377Y(1)	prostate(1)	endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(2)	14						c.(1129-1131)tGt>tAt		dihydrouridine synthase 3-like (S. cerevisiae)							156	136	143					19																	5787682		2203	4300	6503	SO:0001583	missense	56931				tRNA processing		flavin adenine dinucleotide binding|nucleic acid binding|tRNA dihydrouridine synthase activity|zinc ion binding	g.chr19:5787682C>T		CCDS32880.1, CCDS54202.1	19p13.3	2014-02-12			ENSG00000141994	ENSG00000141994			26920	protein-coding gene	gene with protein product						12477932	Standard	NM_020175		Approved	DUS3, FLJ13896	uc002mdc.3	Q96G46	OTTHUMG00000162311	ENST00000309061.7:c.1130G>A	19.37:g.5787682C>T	ENSP00000311977:p.Cys377Tyr					DUS3L_ENST00000320699.8_Missense_Mutation_p.C135Y	p.C377Y	NM_020175.2	NP_064560.2	Q96G46	DUS3L_HUMAN			6	1226	-			377					Q96HM5|Q9BSU4|Q9H877|Q9NPR1	Missense_Mutation	SNP	ENST00000309061.7	37	c.1130G>A	CCDS32880.1	.	.	.	.	.	.	.	.	.	.	C	18.12	3.552413	0.65311	.	.	ENSG00000141994	ENST00000309061;ENST00000320699	T;T	0.31510	1.49;1.49	3.67	3.67	0.42095	Aldolase-type TIM barrel (1);	0.000000	0.85682	U	0.000000	T	0.56411	0.1983	M	0.85945	2.785	0.53688	D	0.999975	P;D	0.58620	0.917;0.983	P;D	0.65684	0.496;0.937	T	0.65278	-0.6207	10	0.87932	D	0	-6.9138	12.9484	0.58386	0.0:1.0:0.0:0.0	.	135;377	Q96G46-3;Q96G46	.;DUS3L_HUMAN	Y	377;135	ENSP00000311977:C377Y;ENSP00000315558:C135Y	ENSP00000311977:C377Y	C	-	2	0	DUS3L	5738682	1.000000	0.71417	0.881000	0.34555	0.904000	0.53231	7.460000	0.80816	1.620000	0.50308	0.456000	0.33151	TGT		0.627	DUS3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451870.2	NM_020175		64	139	0	0	0	0.870114	0	64	139					T	5787682	C	T	5787682	3	4	27	1	0	0	0	0	1	0	0	0	4807	478	17	3	854	3	DUS3L	19	5787682	Missense_Mutation	SNP	C	TCGA-CH-5761-01A-11D-1576-08		5787682	53341301	72	1320											
AXL	558	broad.mit.edu	37	chr19	41763458	41763458	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccaaaccccatatccgggcGtggagaacagcgagatttat	12	7	11	11	3	0	2	0	0	0	2	1	4	1	2	4	2	3	0	4	2	4	3	rs372169583		TCGA-CH-5761-01A-11D-1576-08	TCGA-CH-5761-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb9b1203-fc4a-40c9-867a-436a54c61cf3	b8efa698-2592-447e-b038-3b4da4ebf6de	g.chr19:41763458G>A	ENST00000301178.4	+	19	2447	c.2257G>A	c.(2257-2259)Gtg>Atg	p.V753M	AXL_ENST00000359092.3_Missense_Mutation_p.V744M|AXL_ENST00000593513.1_Missense_Mutation_p.V485M	NM_001278599.1|NM_021913.3	NP_001265528.1|NP_068713	P30530	UFO_HUMAN	AXL receptor tyrosine kinase	753	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic cell clearance (GO:0043277)|blood vessel remodeling (GO:0001974)|cell maturation (GO:0048469)|cellular response to extracellular stimulus (GO:0031668)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to interferon-alpha (GO:0035457)|cellular response to lipopolysaccharide (GO:0071222)|dendritic cell differentiation (GO:0097028)|enzyme linked receptor protein signaling pathway (GO:0007167)|erythrocyte homeostasis (GO:0034101)|forebrain cell migration (GO:0021885)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|natural killer cell differentiation (GO:0001779)|negative regulation of dendritic cell apoptotic process (GO:2000669)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of lymphocyte activation (GO:0051250)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of tumor necrosis factor production (GO:0032720)|neuron migration (GO:0001764)|organ regeneration (GO:0031100)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phagocytosis (GO:0006909)|platelet activation (GO:0030168)|positive regulation of cytokine-mediated signaling pathway (GO:0001961)|positive regulation of natural killer cell differentiation (GO:0032825)|positive regulation of protein kinase B signaling (GO:0051897)|protein kinase B signaling (GO:0043491)|secretion by cell (GO:0032940)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)|substrate adhesion-dependent cell spreading (GO:0034446)|vagina development (GO:0060068)	cell surface (GO:0009986)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|phosphatidylserine binding (GO:0001786)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.V744M(2)		breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	48						ATATCCGGGCGTGGAGAACAG	0.567																																						ENST00000301178.4																			2	Substitution - Missense(2)	p.V744M(2)	prostate(2)	breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	48						c.(2257-2259)Gtg>Atg		AXL receptor tyrosine kinase		G	MET/VAL,MET/VAL	0,4406		0,0,2203	140	125	130		2230,2257	4.9	1	19		130	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	AXL	NM_001699.4,NM_021913.3	21,21	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging	744/886,753/895	41763458	1,13005	2203	4300	6503	SO:0001583	missense	558					integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr19:41763458G>A	M76125	CCDS12574.1, CCDS12575.1, CCDS62677.1	19q13.1	2013-02-11				ENSG00000167601	2.7.10.1	"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	905	protein-coding gene	gene with protein product		109135				1656220	Standard	NM_021913		Approved	UFO, JTK11	uc010ehj.3	P30530		ENST00000301178.4:c.2257G>A	19.37:g.41763458G>A	ENSP00000301178:p.Val753Met					AXL_ENST00000593513.1_Missense_Mutation_p.V485M|AXL_ENST00000359092.3_Missense_Mutation_p.V744M	p.V753M	NM_001278599.1|NM_021913.3	NP_001265528.1|NP_068713.2	P30530	UFO_HUMAN			19	2447	+			753			Protein kinase.		Q8N5L2|Q9UD27	Missense_Mutation	SNP	ENST00000301178.4	37	c.2257G>A	CCDS12575.1	.	.	.	.	.	.	.	.	.	.	G	24.1	4.496413	0.85069	0.0	1.16E-4	ENSG00000167601	ENST00000301178;ENST00000359092	D;D	0.82433	-1.61;-1.61	4.89	4.89	0.63831	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	D	0.000001	D	0.82486	0.5047	N	0.05330	-0.07	0.45621	D	0.99855	D;D	0.89917	1.0;1.0	D;D	0.81914	0.992;0.995	D	0.85369	0.1112	10	0.49607	T	0.09	-15.4127	17.3451	0.87308	0.0:0.0:1.0:0.0	.	744;753	P30530-2;P30530	.;UFO_HUMAN	M	753;744	ENSP00000301178:V753M;ENSP00000351995:V744M	ENSP00000301178:V753M	V	+	1	0	AXL	46455298	1.000000	0.71417	0.996000	0.52242	0.980000	0.70556	5.468000	0.66743	2.706000	0.92434	0.650000	0.86243	GTG		0.567	AXL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000463323.2			63	137	0	0	0	0.870114	0	63	137					A	41763458	G	A	41763458	3	1	27	1	0	0	0	0	1	0	0	0	1238	1145	40	1	2331	1	AXL	19	41763458	Missense_Mutation	SNP	G	TCGA-CH-5761-01A-11D-1576-08	35975776	41763458	17365525	73	1321											
SRMS	6725	broad.mit.edu	37	chr20	62172641	62172641	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aagacacgataattggccgcCtcaggcgctgtccacttgac	10	8	10	13	3	1	2	1	1	0	1	2	3	2	2	3	2	0	1	3	2	2	3			TCGA-CH-5761-01A-11D-1576-08	TCGA-CH-5761-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb9b1203-fc4a-40c9-867a-436a54c61cf3	b8efa698-2592-447e-b038-3b4da4ebf6de	g.chr20:62172641C>G	ENST00000217188.1	-	7	1228	c.1188G>C	c.(1186-1188)gaG>gaC	p.E396D		NM_080823.2	NP_543013.1	Q9H3Y6	SRMS_HUMAN	src-related kinase lacking C-terminal regulatory tyrosine and N-terminal myristylation sites	396	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				peptidyl-tyrosine autophosphorylation (GO:0038083)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)	p.E396D(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|stomach(1)	19	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;9.69e-09)|all cancers(9;5.84e-08)|BRCA - Breast invasive adenocarcinoma(10;3.63e-06)			AATTGGCCGCCTCAGGCGCTG	0.617																																						ENST00000217188.1																			1	Substitution - Missense(1)	p.E396D(1)	prostate(1)	breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|stomach(1)	19						c.(1186-1188)gaG>gaC		src-related kinase lacking C-terminal regulatory tyrosine and N-terminal myristylation sites							108	117	114					20																	62172641		2203	4299	6502	SO:0001583	missense	6725						ATP binding|non-membrane spanning protein tyrosine kinase activity	g.chr20:62172641C>G		CCDS13525.1	20q13.33	2013-02-14	2003-08-22		ENSG00000125508	ENSG00000125508		"SH2 domain containing"	11298	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 148"	C20orf148		7935409	Standard	NM_080823		Approved	SRM, dJ697K14.1	uc002yfi.1	Q9H3Y6	OTTHUMG00000032977	ENST00000217188.1:c.1188G>C	20.37:g.62172641C>G	ENSP00000217188:p.Glu396Asp						p.E396D	NM_080823.2	NP_543013.1	Q9H3Y6	SRMS_HUMAN	Epithelial(9;9.69e-09)|all cancers(9;5.84e-08)|BRCA - Breast invasive adenocarcinoma(10;3.63e-06)		7	1228	-	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		396			Protein kinase.			Missense_Mutation	SNP	ENST00000217188.1	37	c.1188G>C	CCDS13525.1	.	.	.	.	.	.	.	.	.	.	C	15.02	2.710691	0.48517	.	.	ENSG00000125508	ENST00000217188	T	0.36157	1.27	4.84	2.86	0.33363	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.56097	D	0.000025	T	0.65333	0.2681	H	0.94698	3.57	0.40396	D	0.979594	D	0.60160	0.987	D	0.65573	0.936	T	0.74331	-0.3700	10	0.87932	D	0	.	10.4146	0.44314	0.0:0.7712:0.0:0.2288	.	396	Q9H3Y6	SRMS_HUMAN	D	396	ENSP00000217188:E396D	ENSP00000217188:E396D	E	-	3	2	SRMS	61643085	0.979000	0.34478	0.959000	0.39883	0.125000	0.20455	0.144000	0.16135	1.179000	0.42884	0.561000	0.74099	GAG		0.617	SRMS-001	KNOWN	mRNA_end_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080148.1	NM_080823		45	229	0	0	0	0.870114	0	45	229					G	62172641	C	G	62172641	3	3	27	1	0	0	0	0	1	0	0	0	15151	680	24	5	286	5	SRMS	20	62172641	Missense_Mutation	SNP	C	TCGA-CH-5761-01A-11D-1576-08		62172641	852879	74	1322											
GPR174	84636	broad.mit.edu	37	chrX	78426887	78426887	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtacccctttcgcttccatgActgcaaacagaaatatgacc	12	10	6	13	1	0	3	0	2	0	1	2	3	1	3	4	0	3	3	4	0	4	4			TCGA-CH-5761-01A-11D-1576-08	TCGA-CH-5761-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb9b1203-fc4a-40c9-867a-436a54c61cf3	b8efa698-2592-447e-b038-3b4da4ebf6de	g.chrX:78426887A>G	ENST00000276077.1	+	1	419	c.383A>G	c.(382-384)gAc>gGc	p.D128G		NM_032553.1	NP_115942.1	Q9BXC1	GP174_HUMAN	G protein-coupled receptor 174	128						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.D128G(1)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(19)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	38						CGCTTCCATGACTGCAAACAG	0.458										HNSCC(63;0.18)																												ENST00000276077.1																			1	Substitution - Missense(1)	p.D128G(1)	prostate(1)	central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(19)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	38						c.(382-384)gAc>gGc		G protein-coupled receptor 174							215	192	200					X																	78426887		2203	4300	6503	SO:0001583	missense	84636					integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	g.chrX:78426887A>G	AF345567	CCDS14443.1	Xq13.3	2012-08-21			ENSG00000147138	ENSG00000147138		"GPCR / Class A : Orphans"	30245	protein-coding gene	gene with protein product		300903					Standard	NM_032553		Approved	FKSG79	uc004edg.1	Q9BXC1	OTTHUMG00000021898	ENST00000276077.1:c.383A>G	X.37:g.78426887A>G	ENSP00000276077:p.Asp128Gly	HNSCC(63;0.18)					p.D128G	NM_032553.1	NP_115942.1	Q9BXC1	GP174_HUMAN			1	419	+			128					Q2M3F7	Missense_Mutation	SNP	ENST00000276077.1	37	c.383A>G	CCDS14443.1	.	.	.	.	.	.	.	.	.	.	a	14.58	2.578656	0.46006	.	.	ENSG00000147138	ENST00000276077	T	0.36699	1.24	5.06	5.06	0.68205	GPCR, rhodopsin-like superfamily (1);	0.261386	0.37809	N	0.001928	T	0.30355	0.0762	L	0.36672	1.1	0.43824	D	0.996393	B	0.21688	0.059	B	0.28465	0.09	T	0.07347	-1.0777	10	0.23891	T	0.37	.	12.6732	0.56878	1.0:0.0:0.0:0.0	.	128	Q9BXC1	GP174_HUMAN	G	128	ENSP00000276077:D128G	ENSP00000276077:D128G	D	+	2	0	GPR174	78313543	1.000000	0.71417	0.990000	0.47175	0.934000	0.57294	3.393000	0.52544	1.671000	0.50874	0.397000	0.26171	GAC		0.458	GPR174-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057327.1	NM_032553		124	63	0	0	0	0.870114	0	124	63					G	78426887	A	G	78426887	3	3	27	1	0	0	0	0	1	0	0	0	6672	275	10	4	385	4	GPR174	23	78426887	Missense_Mutation	SNP	A	TCGA-CH-5761-01A-11D-1576-08		78426887	76843673	75	1323											
BTK	695	broad.mit.edu	37	chrX	100630266	100630266	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gatgctctccagaatcactgCggccatagcttcttctttct	7	14	7	13	1	5	1	1	0	4	1	6	2	5	1	2	1	3	2	2	1	2	4	rs368549990		TCGA-CH-5761-01A-11D-1576-08	TCGA-CH-5761-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb9b1203-fc4a-40c9-867a-436a54c61cf3	b8efa698-2592-447e-b038-3b4da4ebf6de	g.chrX:100630266C>A	ENST00000308731.7	-	2	170	c.7G>T	c.(7-9)Gca>Tca	p.A3S	BTK_ENST00000372880.1_Missense_Mutation_p.A3S|BTK_ENST00000464567.1_5'UTR	NM_000061.2	NP_000052.1	Q06187	BTK_HUMAN	Bruton agammaglobulinemia tyrosine kinase	3	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				adaptive immune response (GO:0002250)|apoptotic signaling pathway (GO:0097190)|B cell activation (GO:0042113)|B cell receptor signaling pathway (GO:0050853)|calcium-mediated signaling (GO:0019722)|cell maturation (GO:0048469)|Fc-epsilon receptor signaling pathway (GO:0038095)|histamine secretion by mast cell (GO:0002553)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|mesoderm development (GO:0007498)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of B cell apoptotic process (GO:0002902)|regulation of B cell cytokine production (GO:0002721)|response to organic substance (GO:0010033)|response to reactive oxygen species (GO:0000302)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|mast cell granule (GO:0042629)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|protein tyrosine kinase activity (GO:0004713)	p.A3S(3)		breast(4)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(25)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						AGAATCACTGCGGCCATAGCT	0.468									Agammaglobulinemia, X-linked																													ENST00000308731.7																			3	Substitution - Missense(3)	p.A3S(3)	prostate(2)|lung(1)	breast(4)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(25)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						c.(7-9)Gca>Tca		Bruton agammaglobulinemia tyrosine kinase							137	124	128					X																	100630266		2203	4300	6503	SO:0001583	missense	695	Agammaglobulinemia, X-linked	Familial Cancer Database	Bruton Type Agammaglobulinemia	calcium-mediated signaling|induction of apoptosis by extracellular signals|mesoderm development	cytosol|membrane raft|nucleus|plasma membrane	ATP binding|identical protein binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|phosphatidylinositol-3,4,5-trisphosphate binding	g.chrX:100630266C>A	AK057105	CCDS14482.1, CCDS76002.1, CCDS76003.1	Xq21.33-q22	2014-09-17			ENSG00000010671	ENSG00000010671	2.7.10.1	"Pleckstrin homology (PH) domain containing", "SH2 domain containing"	1133	protein-coding gene	gene with protein product		300300		AGMX1, IMD1		8380905	Standard	NM_000061		Approved	ATK, XLA, PSCTK1	uc004ehg.2	Q06187	OTTHUMG00000022022	ENST00000308731.7:c.7G>T	X.37:g.100630266C>A	ENSP00000308176:p.Ala3Ser					BTK_ENST00000464567.1_5'UTR|BTK_ENST00000372880.1_Missense_Mutation_p.A3S	p.A3S	NM_000061.2	NP_000052.1	Q06187	BTK_HUMAN			2	170	-			3			PH.		B2RAW1|Q32ML5	Missense_Mutation	SNP	ENST00000308731.7	37	c.7G>T	CCDS14482.1	.	.	.	.	.	.	.	.	.	.	C	9.546	1.114781	0.20795	.	.	ENSG00000010671	ENST00000372880;ENST00000308731	D;T	0.81659	-1.52;-0.94	5.35	0.533	0.17121	Pleckstrin homology domain (1);	0.572708	0.19420	N	0.114718	T	0.54240	0.1846	N	0.08118	0	0.21652	N	0.999609	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.0;0.0	T	0.36311	-0.9753	10	0.10636	T	0.68	.	5.5259	0.16957	0.1282:0.4389:0.0:0.4328	.	3;3;3	Q5JY90;B2RAW1;Q06187	.;.;BTK_HUMAN	S	3	ENSP00000361971:A3S;ENSP00000308176:A3S	ENSP00000308176:A3S	A	-	1	0	BTK	100516922	0.001000	0.12720	0.943000	0.38184	0.513000	0.34164	-0.042000	0.12063	-0.364000	0.08088	-0.192000	0.12808	GCA		0.468	BTK-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057532.2	NM_000061		117	62	1	0	4.05427e-82	0.870114	5.33457e-82	117	62					A	100630266	C	A	100630266	3	1	27	1	0	0	0	0	1	0	0	0	1557	768	27	5	2044	5	BTK	23	100630266	Missense_Mutation	SNP	C	TCGA-CH-5761-01A-11D-1576-08	22203379	100630266	54640294	76	1324											
PNMA5	114824	broad.mit.edu	37	chrX	152158951	152158951	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctcccctagtgctttcacTgcctaacagccgcctgcgtt	5	13	7	16	2	2	0	1	0	1	0	3	0	2	0	5	0	5	2	5	0	2	5			TCGA-CH-5761-01A-11D-1576-08	TCGA-CH-5761-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb9b1203-fc4a-40c9-867a-436a54c61cf3	b8efa698-2592-447e-b038-3b4da4ebf6de	g.chrX:152158951T>G	ENST00000439251.1	-	2	1630	c.1192A>C	c.(1192-1194)Agt>Cgt	p.S398R	PNMA5_ENST00000452693.1_Missense_Mutation_p.S398R|PNMA5_ENST00000361887.5_Missense_Mutation_p.S398R|PNMA5_ENST00000535214.1_Missense_Mutation_p.S398R	NM_001103150.1	NP_001096620.1	Q96PV4	PNMA5_HUMAN	paraneoplastic Ma antigen family member 5	398					positive regulation of apoptotic process (GO:0043065)			p.S398R(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25	Acute lymphoblastic leukemia(192;6.56e-05)					GTGCTTTCACTGCCTAACAGC	0.597																																						ENST00000439251.1																			1	Substitution - Missense(1)	p.S398R(1)	prostate(1)	breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						c.(1192-1194)Agt>Cgt		paraneoplastic Ma antigen family member 5							116	101	106					X																	152158951		2203	4300	6503	SO:0001583	missense	114824				apoptosis			g.chrX:152158951T>G	AB067521	CCDS14718.1	Xq28	2012-02-09	2012-02-09		ENSG00000198883	ENSG00000198883		"Paraneoplastic Ma antigens"	18743	protein-coding gene	gene with protein product	"paraneoplastic antigen family 5"	300916	"paraneoplastic antigen like 5"			16214224	Standard	NM_052926		Approved	KIAA1934	uc004fgy.4	Q96PV4	OTTHUMG00000024184	ENST00000439251.1:c.1192A>C	X.37:g.152158951T>G	ENSP00000388850:p.Ser398Arg					PNMA5_ENST00000361887.5_Missense_Mutation_p.S398R|PNMA5_ENST00000535214.1_Missense_Mutation_p.S398R|PNMA5_ENST00000452693.1_Missense_Mutation_p.S398R	p.S398R	NM_001103150.1	NP_001096620.1	Q96PV4	PNMA5_HUMAN			2	1630	-	Acute lymphoblastic leukemia(192;6.56e-05)		398					B4DI72|B7Z9Y9|Q495L5|Q8NET3	Missense_Mutation	SNP	ENST00000439251.1	37	c.1192A>C	CCDS14718.1	.	.	.	.	.	.	.	.	.	.	t	3.330	-0.136954	0.06711	.	.	ENSG00000198883	ENST00000361887;ENST00000535214;ENST00000439251;ENST00000452693	T;T;T;T	0.06218	3.33;3.33;3.33;3.33	2.85	-5.69	0.02428	.	.	.	.	.	T	0.01695	0.0054	N	0.02539	-0.55	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.40021	-0.9585	9	0.17832	T	0.49	-5.1527	0.5727	0.00698	0.4025:0.2239:0.1955:0.1782	.	398	Q96PV4	PNMA5_HUMAN	R	398	ENSP00000354834:S398R;ENSP00000445775:S398R;ENSP00000388850:S398R;ENSP00000392342:S398R	ENSP00000354834:S398R	S	-	1	0	PNMA5	151909607	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.274000	0.02820	-2.766000	0.00367	0.237000	0.17872	AGT		0.597	PNMA5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060925.1	NM_052926		74	42	0	0	0	0.870114	0	74	42					G	152158951	T	G	152158951	3	3	27	1	0	0	0	0	1	0	0	0	12156	1580	55	5	158	5	PNMA5	23	152158951	Missense_Mutation	SNP	T	TCGA-CH-5761-01A-11D-1576-08	51528685	152158951	3111609	77	1325											
KIF1B	23095	broad.mit.edu	37	chr1	10292482	10292482	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcatcattcagatgcaaggCaactcgaccagtgagtacat	13	9	9	10	1	2	2	2	1	0	1	3	3	2	2	1	1	4	4	1	1	3	2			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr1:10292482C>T	ENST00000377086.1	+	2	298	c.96C>T	c.(94-96)ggC>ggT	p.G32G	KIF1B_ENST00000263934.6_Silent_p.G32G|KIF1B_ENST00000377093.4_Silent_p.G32G|KIF1B_ENST00000377083.1_Silent_p.G32G|KIF1B_ENST00000377081.1_Silent_p.G32G			O60333	KIF1B_HUMAN	kinesin family member 1B	32	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				anterograde axon cargo transport (GO:0008089)|apoptotic process (GO:0006915)|cytoskeleton-dependent intracellular transport (GO:0030705)|microtubule-based movement (GO:0007018)|mitochondrion transport along microtubule (GO:0047497)|neuromuscular synaptic transmission (GO:0007274)|neuron-neuron synaptic transmission (GO:0007270)|vesicle-mediated transport (GO:0016192)	cytoplasmic vesicle (GO:0031410)|cytoplasmic vesicle membrane (GO:0030659)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|kinesin binding (GO:0019894)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)	p.G32G(2)		breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2)	71	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)		AGATGCAAGGCAACTCGACCA	0.458																																						ENST00000377086.1																			2	Substitution - coding silent(2)	p.G32G(2)	prostate(2)	breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2)	71						c.(94-96)ggC>ggT		kinesin family member 1B							118	101	107					1																	10292482		2203	4300	6503	SO:0001819	synonymous_variant	23095				anterograde axon cargo transport|apoptosis|neuromuscular synaptic transmission|neuron-neuron synaptic transmission	cytoplasmic vesicle membrane|microtubule|microtubule associated complex|mitochondrion	ATP binding|ATPase activity|kinesin binding|microtubule motor activity|protein binding	g.chr1:10292482C>T	AF257176	CCDS111.1, CCDS112.1	1p36.22	2014-09-17			ENSG00000054523	ENSG00000054523		"Kinesins", "Pleckstrin homology (PH) domain containing"	16636	protein-coding gene	gene with protein product		605995		CMT2A, CMT2		11389829, 10762626	Standard	NM_015074		Approved	KIAA0591, KLP, HMSNII	uc001aqw.4	O60333	OTTHUMG00000001817	ENST00000377086.1:c.96C>T	1.37:g.10292482C>T						KIF1B_ENST00000377093.4_Silent_p.G32G|KIF1B_ENST00000263934.6_Silent_p.G32G|KIF1B_ENST00000377083.1_Silent_p.G32G|KIF1B_ENST00000377081.1_Silent_p.G32G	p.G32G			O60333	KIF1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)	2	298	+	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)	32			Kinesin-motor.		A6NFS8|A6NKQ4|Q4VXC3|Q4VXC4|Q4VXC5|Q4VXC6|Q96Q94|Q9BV80|Q9P280	Silent	SNP	ENST00000377086.1	37	c.96C>T																																																																																					0.458	KIF1B-001	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000005102.1			6	28	0	0	0	0.217242	0	6	28					T	10292482	C	T	10292482	2	4	28	1	0	0	0	0	0	0	0	1	8284	697	25	3		3	KIF1B	1	10292482	Silent	SNP	C	TCGA-CH-5762-01A-11D-1576-08		10292482	238958139	1	1326											
MASP2	10747	broad.mit.edu	37	chr1	11090302	11090302	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tccatcagcctcacacacatAtttacctgcaaatcattgga	13	11	4	13	0	3	0	3	0	0	0	4	1	4	1	3	1	3	1	3	1	3	4			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr1:11090302A>T	ENST00000400897.3	-	10	1243	c.1228T>A	c.(1228-1230)Tat>Aat	p.Y410N	RP4-635E18.8_ENST00000607145.1_RNA	NM_006610.3	NP_006601.2	O00187	MASP2_HUMAN	mannan-binding lectin serine peptidase 2	410	Sushi 2. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|complement activation, lectin pathway (GO:0001867)|innate immune response (GO:0045087)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|calcium-dependent protein binding (GO:0048306)|complement component C4b binding (GO:0001855)|peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)	p.Y410N(1)		biliary_tract(1)|endometrium(2)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23	Ovarian(185;0.249)	Lung NSC(185;1.04e-05)|all_lung(284;1.31e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.071)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.12e-07)|COAD - Colon adenocarcinoma(227;7.07e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|READ - Rectum adenocarcinoma(331;0.0487)|STAD - Stomach adenocarcinoma(313;0.192)		TCACACACATATTTACCTGCA	0.393																																					GBM(35;611 746 20780 22741 36496)	ENST00000400897.3																			1	Substitution - Missense(1)	p.Y410N(1)	prostate(1)	biliary_tract(1)|endometrium(2)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23						c.(1228-1230)Tat>Aat		mannan-binding lectin serine peptidase 2							111	108	109					1																	11090302		2203	4300	6503	SO:0001583	missense	10747				complement activation, classical pathway|complement activation, lectin pathway|proteolysis	extracellular region	calcium ion binding|calcium-dependent protein binding|serine-type endopeptidase activity	g.chr1:11090302A>T	X98400	CCDS123.1, CCDS124.1	1p36.3-p36.2	2014-09-17	2005-08-17		ENSG00000009724	ENSG00000009724			6902	protein-coding gene	gene with protein product		605102	"mannan-binding lectin serine protease 2", "mannan-binding lectin serine peptidase 1 pseudogene 1", "mannan-binding lectin serine protease 1 pseudogene 1"	MASP1P1		9087411, 9777418	Standard	NM_006610		Approved		uc001aru.3	O00187	OTTHUMG00000002121	ENST00000400897.3:c.1228T>A	1.37:g.11090302A>T	ENSP00000383690:p.Tyr410Asn					RP4-635E18.8_ENST00000607145.1_RNA	p.Y410N	NM_006610.3	NP_006601.2	O00187	MASP2_HUMAN	STAD - Stomach adenocarcinoma(5;0.071)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.12e-07)|COAD - Colon adenocarcinoma(227;7.07e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|READ - Rectum adenocarcinoma(331;0.0487)|STAD - Stomach adenocarcinoma(313;0.192)	10	1243	-	Ovarian(185;0.249)	Lung NSC(185;1.04e-05)|all_lung(284;1.31e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	410			Sushi 2.		A8K458|A8MWJ2|O75754|Q5TEQ5|Q5TER0|Q96QG4|Q9BZH0|Q9H498|Q9H499|Q9UBP3|Q9UC48|Q9ULC7|Q9UMV3|Q9Y270	Missense_Mutation	SNP	ENST00000400897.3	37	c.1228T>A	CCDS123.1	.	.	.	.	.	.	.	.	.	.	A	20.4	3.992023	0.74703	.	.	ENSG00000009724	ENST00000400897	T	0.65178	-0.14	5.63	5.63	0.86233	Complement control module (2);Sushi/SCR/CCP (3);	0.000000	0.64402	D	0.000002	D	0.83644	0.5299	M	0.92169	3.28	0.80722	D	1	D	0.76494	0.999	D	0.76071	0.987	D	0.87842	0.2652	10	0.87932	D	0	.	15.5059	0.75739	1.0:0.0:0.0:0.0	.	410	O00187	MASP2_HUMAN	N	410	ENSP00000383690:Y410N	ENSP00000383690:Y410N	Y	-	1	0	MASP2	11012889	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	6.070000	0.71220	2.149000	0.67028	0.533000	0.62120	TAT		0.393	MASP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006072.1	NM_006610		23	139	0	0	0	0.639603	0	23	139					T	11090302	A	T	11090302	3	4	28	1	0	0	0	0	1	0	0	0	9323	449	16	5	840	5	MASP2	1	11090302	Missense_Mutation	SNP	A	TCGA-CH-5762-01A-11D-1576-08	797820	11090302	238160319	2	1327											
HTR6	3362	broad.mit.edu	37	chr1	20005147	20005147	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaaggccctgaaggccagcCtgacgctgggcatcctgctg	7	6	15	13	1	0	2	0	2	0	0	1	3	1	3	4	4	2	3	4	4	2	0			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr1:20005147C>A	ENST00000289753.1	+	2	1269	c.802C>A	c.(802-804)Ctg>Atg	p.L268M		NM_000871.1	NP_000862.1	P50406	5HT6R_HUMAN	5-hydroxytryptamine (serotonin) receptor 6, G protein-coupled	268					brain development (GO:0007420)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|learning (GO:0007612)|long-term synaptic potentiation (GO:0060291)|negative regulation of acetylcholine secretion, neurotransmission (GO:0014058)|negative regulation of gamma-aminobutyric acid secretion (GO:0014053)|negative regulation of glutamate secretion (GO:0014050)|positive regulation of dopamine secretion (GO:0033603)|positive regulation of gamma-aminobutyric acid secretion (GO:0014054)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|synaptic transmission (GO:0007268)	cilium (GO:0005929)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	histamine receptor activity (GO:0004969)|serotonin receptor activity (GO:0004993)			endometrium(1)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00519)|Breast(348;0.00526)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;5.81e-05)|Kidney(64;0.00017)|GBM - Glioblastoma multiforme(114;0.00117)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182)	Amitriptyline(DB00321)|Amoxapine(DB00543)|Aripiprazole(DB01238)|Asenapine(DB06216)|Chlorpromazine(DB00477)|Clozapine(DB00363)|Doxepin(DB01142)|Ergoloid mesylate(DB01049)|Iloperidone(DB04946)|Imipramine(DB00458)|Loxapine(DB00408)|Mianserin(DB06148)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Quetiapine(DB01224)|Sertindole(DB06144)|Ziprasidone(DB00246)	GAAGGCCAGCCTGACGCTGGG	0.622																																					Esophageal Squamous(168;1879 2619 6848 21062)	ENST00000289753.1																			0				endometrium(1)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13						c.(802-804)Ctg>Atg		5-hydroxytryptamine (serotonin) receptor 6, G protein-coupled	Granisetron(DB00889)|Ondansetron(DB00904)|Sertindole(DB06144)						77	62	67					1																	20005147		2203	4300	6503	SO:0001583	missense	3362				G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	histamine receptor activity|protein binding	g.chr1:20005147C>A	L41147	CCDS197.1	1p36-p35	2012-08-08	2012-02-03		ENSG00000158748	ENSG00000158748		"5-HT (serotonin) receptors", "GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"	5301	protein-coding gene	gene with protein product		601109	"5-hydroxytryptamine (serotonin) receptor 6"			8522988	Standard	NM_000871		Approved	5-HT6, 5-HT6R	uc001bcl.3	P50406	OTTHUMG00000002713	ENST00000289753.1:c.802C>A	1.37:g.20005147C>A	ENSP00000289753:p.Leu268Met						p.L268M	NM_000871.1	NP_000862.1	P50406	5HT6R_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;5.81e-05)|Kidney(64;0.00017)|GBM - Glioblastoma multiforme(114;0.00117)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182)	2	1269	+		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00519)|Breast(348;0.00526)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)	268					Q13640|Q5TGZ1	Missense_Mutation	SNP	ENST00000289753.1	37	c.802C>A	CCDS197.1	.	.	.	.	.	.	.	.	.	.	C	17.27	3.348257	0.61183	.	.	ENSG00000158748	ENST00000289753	T	0.37915	1.17	5.22	1.7	0.24286	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000005	T	0.46870	0.1415	L	0.54323	1.7	0.24638	N	0.993589	D	0.76494	0.999	D	0.75020	0.985	T	0.16928	-1.0386	9	.	.	.	.	6.2579	0.20884	0.1479:0.6446:0.0:0.2075	.	268	P50406	5HT6R_HUMAN	M	268	ENSP00000289753:L268M	.	L	+	1	2	HTR6	19877734	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.977000	0.40589	0.657000	0.30906	0.561000	0.74099	CTG		0.622	HTR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007704.1	NM_000871		4	105	1	0	0.00024832	0.150653	0.000270583	4	105					A	20005147	C	A	20005147	3	1	28	1	0	0	0	0	1	0	0	0	7451	680	24	5	808	5	HTR6	1	20005147	Missense_Mutation	SNP	C	TCGA-CH-5762-01A-11D-1576-08	8914845	20005147	229245474	3	1328											
ZSWIM5	57643	broad.mit.edu	37	chr1	45484152	45484152	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaagcgctctcgcaccagcaGcatcaactttttcttgcctt	9	12	6	14	2	3	0	1	0	2	0	4	0	3	0	2	0	5	4	2	0	2	4			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr1:45484152G>A	ENST00000359600.5	-	14	3737	c.3532C>T	c.(3532-3534)Ctg>Ttg	p.L1178L		NM_020883.1	NP_065934.1	Q9P217	ZSWM5_HUMAN	zinc finger, SWIM-type containing 5	1178						extracellular space (GO:0005615)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|liver(1)|lung(13)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	28	Acute lymphoblastic leukemia(166;0.155)					CGCACCAGCAGCATCAACTTT	0.557											OREG0013450	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000359600.5																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|liver(1)|lung(13)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	28						c.(3532-3534)Ctg>Ttg		zinc finger, SWIM-type containing 5							103	102	102					1																	45484152		2025	4182	6207	SO:0001819	synonymous_variant	57643						zinc ion binding	g.chr1:45484152G>A	AB040944	CCDS41319.1	1p34.1	2010-06-16			ENSG00000162415	ENSG00000162415		"Zinc fingers, SWIM-type"	29299	protein-coding gene	gene with protein product						10819331	Standard	NM_020883		Approved	KIAA1511	uc001cnd.2	Q9P217	OTTHUMG00000008950	ENST00000359600.5:c.3532C>T	1.37:g.45484152G>A			OREG0013450	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	932		p.L1178L	NM_020883.1	NP_065934.1	Q9P217	ZSWM5_HUMAN			14	3737	-	Acute lymphoblastic leukemia(166;0.155)		1178					Q5SXQ9	Silent	SNP	ENST00000359600.5	37	c.3532C>T	CCDS41319.1																																																																																				0.557	ZSWIM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024823.2	XM_046581		5	243	0	0	0	0.184627	0	5	243					A	45484152	G	A	45484152	2	1	28	1	0	0	0	0	0	0	0	1	18241	962	34	3		3	ZSWIM5	1	45484152	Silent	SNP	G	TCGA-CH-5762-01A-11D-1576-08	25479005	45484152	203766469	4	1329											
SFRS11	9295	broad.mit.edu	37	chr1	70687370	70687371	+	Frame_Shift_Ins	INS	-	-	G																															caggtccgggccccagcggcINSgggcccggtggcggaggtgg																										TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr1:70687370_70687371insG	ENST00000370950.3	+	2	133_134	c.51_52insG	c.(52-54)gggfs	p.G18fs	SRSF11_ENST00000370951.1_Frame_Shift_Ins_p.G18fs|SRSF11_ENST00000436161.2_Frame_Shift_Ins_p.G18fs|SRSF11_ENST00000454435.2_Frame_Shift_Ins_p.G18fs|SRSF11_ENST00000405432.1_Frame_Shift_Ins_p.G18fs|RP4-677H15.4_ENST00000422107.1_RNA			Q05519	SRS11_HUMAN	serine/arginine-rich splicing factor 11	18	Poly-Gly.				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			large_intestine(3)|ovary(2)|skin(1)	6						GCCCCAGCGGCGGGCCcggtgg	0.649																																						ENST00000370950.3																			0				large_intestine(3)|ovary(2)|skin(1)	6						c.(49-54)ggggccfs		serine/arginine-rich splicing factor 11			,	40,4006		6,28,1989					,	3.3	1			61	39,8013		6,27,3993	no	frameshift,frameshift	SRSF11	NM_004768.3,NM_001190987.1	,	12,55,5982	A1A1,A1R,RR		0.4844,0.9886,0.653	,	,		79,12019				SO:0001589	frameshift_variant	9295				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nucleoplasm	nucleotide binding|protein binding|RNA binding	g.chr1:70687370_70687371insG	M74002	CCDS647.1, CCDS53332.1	1p31.1	2013-02-12	2010-06-22	2010-06-22	ENSG00000116754	ENSG00000116754		"Serine/arginine-rich splicing factors", "RNA binding motif (RRM) containing"	10782	protein-coding gene	gene with protein product	"SR splicing factor 11"	602010	"splicing factor, arginine/serine-rich 11"	SFRS11		1896467, 20516191	Standard	NM_004768		Approved	p54, NET2	uc001des.3	Q05519	OTTHUMG00000009342	ENST00000370950.3:c.54dupG	1.37:g.70687373_70687373dupG	ENSP00000359988:p.Gly18fs					SRSF11_ENST00000454435.2_Frame_Shift_Ins_p.A18fs|SRSF11_ENST00000436161.2_Frame_Shift_Ins_p.A18fs|SRSF11_ENST00000370951.1_Frame_Shift_Ins_p.A18fs|SRSF11_ENST00000405432.1_Frame_Shift_Ins_p.A18fs	p.A18fs			Q05519	SRS11_HUMAN			2	133_134	+			18			Poly-Gly.		Q5T758|Q8IWE6	Frame_Shift_Ins	INS	ENST00000370950.3	37	c.51_52insG	CCDS647.1																																																																																				0.649	SRSF11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000025889.1	NM_004768		8	351						8	351	---	---	---	---	G	70687371	-	G	70687370	7	5	28	1	0	1	1	0	0	0	0	0	14166	755	27	0	53	0	SFRS11	1	70687370	Frame_Shift_Ins	INS	-	TCGA-CH-5762-01A-11D-1576-08	25203218	70687370	178563251	5	1330											
GSTM2	2946	broad.mit.edu	37	chr1	110217403	110217403	+	Missense_Mutation	SNP	G	G	T																															ctctgcctacatgaagtccaGccgcttcctcccaagacctg																										TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr1:110217403G>T	ENST00000241337.4	+	8	652	c.602G>T	c.(601-603)aGc>aTc	p.S201I	GSTM2_ENST00000369831.2_Intron|GSTM2_ENST00000460717.3_Intron|GSTM2_ENST00000414179.2_Intron|GSTM2_ENST00000369827.3_Missense_Mutation_p.S162I|GSTM2_ENST00000442650.1_Intron	NM_000848.3	NP_000839.1	P28161	GSTM2_HUMAN	glutathione S-transferase mu 2 (muscle)	201	GST C-terminal.				cellular detoxification of nitrogen compound (GO:0070458)|cellular response to caffeine (GO:0071313)|glutathione derivative biosynthetic process (GO:1901687)|glutathione metabolic process (GO:0006749)|negative regulation of ryanodine-sensitive calcium-release channel activity (GO:0060315)|nitrobenzene metabolic process (GO:0018916)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|relaxation of cardiac muscle (GO:0055119)|small molecule metabolic process (GO:0044281)|xenobiotic catabolic process (GO:0042178)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|sarcoplasmic reticulum (GO:0016529)	enzyme binding (GO:0019899)|glutathione binding (GO:0043295)|glutathione transferase activity (GO:0004364)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.S201I(1)		kidney(1)|large_intestine(2)|lung(4)|prostate(2)|upper_aerodigestive_tract(2)	11		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		all cancers(265;0.0122)|Colorectal(144;0.0129)|Epithelial(280;0.0146)|Lung(183;0.0422)|COAD - Colon adenocarcinoma(174;0.047)|LUSC - Lung squamous cell carcinoma(189;0.227)	Glutathione(DB00143)	ATGAAGTCCAGCCGCTTCCTC	0.577																																						ENST00000241337.4																			1	Substitution - Missense(1)	p.S201I(1)	prostate(1)	kidney(1)|large_intestine(2)|lung(4)|prostate(2)|upper_aerodigestive_tract(2)	11						c.(601-603)aGc>aTc		glutathione S-transferase mu 2 (muscle)							145	127	133					1																	110217403		2201	4298	6499	SO:0001583	missense	2946							g.chr1:110217403G>T	M63509	CCDS808.1, CCDS44192.1	1p13.3	2012-06-21	2008-11-26		ENSG00000213366	ENSG00000213366	2.5.1.18	"Glutathione S-transferases / Soluble"	4634	protein-coding gene	gene with protein product		138380	"glutathione S-transferase M2 (muscle)"			2034681, 2345169	Standard	NM_000848		Approved	GST4		P28161	OTTHUMG00000011638	ENST00000241337.4:c.602G>T	1.37:g.110217403G>T	ENSP00000241337:p.Ser201Ile					GSTM2_ENST00000460717.3_Intron|GSTM2_ENST00000442650.1_Intron|GSTM2_ENST00000369831.2_Intron|GSTM2_ENST00000369827.3_Missense_Mutation_p.S162I|GSTM2_ENST00000414179.2_Intron	p.S201I	NM_000848.3	NP_000839.1				all cancers(265;0.0122)|Colorectal(144;0.0129)|Epithelial(280;0.0146)|Lung(183;0.0422)|COAD - Colon adenocarcinoma(174;0.047)|LUSC - Lung squamous cell carcinoma(189;0.227)	8	652	+		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)						B4DRY4|E9PEM9|Q2M318|Q5TZY5|Q8WWE1	Missense_Mutation	SNP	ENST00000241337.4	37	c.602G>T	CCDS808.1	.	.	.	.	.	.	.	.	.	.	G	10.10	1.256587	0.22965	.	.	ENSG00000213366	ENST00000369827;ENST00000241337	T;T	0.03920	3.76;3.76	3.32	1.34	0.21922	Glutathione S-transferase, C-terminal-like (1);Glutathione S-transferase/chloride channel, C-terminal (1);	0.540049	0.18310	U	0.145123	T	0.03959	0.0111	M	0.92604	3.325	0.09310	N	1	B;B	0.30686	0.29;0.193	B;B	0.32465	0.146;0.095	T	0.18999	-1.0319	10	0.62326	D	0.03	.	4.0318	0.09713	0.1406:0.2506:0.6088:0.0	.	201;201	P28161;Q0D2I8	GSTM2_HUMAN;.	I	162;201	ENSP00000358842:S162I;ENSP00000241337:S201I	ENSP00000241337:S201I	S	+	2	0	GSTM2	110018926	0.976000	0.34144	0.544000	0.28141	0.168000	0.22595	0.788000	0.26872	0.700000	0.31782	-0.479000	0.04858	AGC		0.577	GSTM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032167.2	NM_000848		20	137	1	0	5.61819e-17	0.693898	6.57536e-17	20	137					T	110217403	G	T	110217403	3	4	28	1	0	0	0	0	1	0	0	0	6838	971	34	5	632	5	GSTM2	1	110217403	Missense_Mutation	SNP	G	TCGA-CH-5762-01A-11D-1576-08	39530033	110217403	139033218	6	1331	10	2									
GSTM2	2946	broad.mit.edu	37	chr1	110217413	110217413	+	Silent	SNP	C	C	G																															atgaagtccagccgcttcctCccaagacctgtgttcacaaa																								rs376043733		TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr1:110217413C>G	ENST00000241337.4	+	8	662	c.612C>G	c.(610-612)ctC>ctG	p.L204L	GSTM2_ENST00000369831.2_Intron|GSTM2_ENST00000460717.3_Intron|GSTM2_ENST00000414179.2_Intron|GSTM2_ENST00000369827.3_Silent_p.L165L|GSTM2_ENST00000442650.1_Intron	NM_000848.3	NP_000839.1	P28161	GSTM2_HUMAN	glutathione S-transferase mu 2 (muscle)	204	GST C-terminal.				cellular detoxification of nitrogen compound (GO:0070458)|cellular response to caffeine (GO:0071313)|glutathione derivative biosynthetic process (GO:1901687)|glutathione metabolic process (GO:0006749)|negative regulation of ryanodine-sensitive calcium-release channel activity (GO:0060315)|nitrobenzene metabolic process (GO:0018916)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|relaxation of cardiac muscle (GO:0055119)|small molecule metabolic process (GO:0044281)|xenobiotic catabolic process (GO:0042178)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|sarcoplasmic reticulum (GO:0016529)	enzyme binding (GO:0019899)|glutathione binding (GO:0043295)|glutathione transferase activity (GO:0004364)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.L204L(2)		kidney(1)|large_intestine(2)|lung(4)|prostate(2)|upper_aerodigestive_tract(2)	11		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		all cancers(265;0.0122)|Colorectal(144;0.0129)|Epithelial(280;0.0146)|Lung(183;0.0422)|COAD - Colon adenocarcinoma(174;0.047)|LUSC - Lung squamous cell carcinoma(189;0.227)	Glutathione(DB00143)	GCCGCTTCCTCCCAAGACCTG	0.582																																						ENST00000241337.4																			2	Substitution - coding silent(2)	p.L204L(2)	prostate(1)|kidney(1)	kidney(1)|large_intestine(2)|lung(4)|prostate(2)|upper_aerodigestive_tract(2)	11						c.(610-612)ctC>ctG		glutathione S-transferase mu 2 (muscle)							170	148	155					1																	110217413		2202	4298	6500	SO:0001819	synonymous_variant	2946							g.chr1:110217413C>G	M63509	CCDS808.1, CCDS44192.1	1p13.3	2012-06-21	2008-11-26		ENSG00000213366	ENSG00000213366	2.5.1.18	"Glutathione S-transferases / Soluble"	4634	protein-coding gene	gene with protein product		138380	"glutathione S-transferase M2 (muscle)"			2034681, 2345169	Standard	NM_000848		Approved	GST4		P28161	OTTHUMG00000011638	ENST00000241337.4:c.612C>G	1.37:g.110217413C>G						GSTM2_ENST00000460717.3_Intron|GSTM2_ENST00000442650.1_Intron|GSTM2_ENST00000369831.2_Intron|GSTM2_ENST00000369827.3_Silent_p.L165L|GSTM2_ENST00000414179.2_Intron	p.L204L	NM_000848.3	NP_000839.1				all cancers(265;0.0122)|Colorectal(144;0.0129)|Epithelial(280;0.0146)|Lung(183;0.0422)|COAD - Colon adenocarcinoma(174;0.047)|LUSC - Lung squamous cell carcinoma(189;0.227)	8	662	+		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)						B4DRY4|E9PEM9|Q2M318|Q5TZY5|Q8WWE1	Silent	SNP	ENST00000241337.4	37	c.612C>G	CCDS808.1																																																																																				0.582	GSTM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032167.2	NM_000848		23	146	0	0	0	0.717897	0	23	146					G	110217413	C	G	110217413	2	3	28	1	0	0	0	0	0	0	0	1	6838	842	30	5		5	GSTM2	1	110217413	Silent	SNP	C	TCGA-CH-5762-01A-11D-1576-08	10	110217413	139033208	7	1332	10	2									
EPRS	2058	broad.mit.edu	37	chr1	220205767	220205767	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaaacatcccacttggtacCtactgactggaaggcctgct	10	10	9	12	0	0	2	0	2	0	0	1	3	1	3	3	3	4	2	3	3	4	3			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr1:220205767C>G	ENST00000366923.3	-	5	759	c.490G>C	c.(490-492)Ggt>Cgt	p.G164R		NM_004446.2	NP_004437.2	P07814	SYEP_HUMAN	glutamyl-prolyl-tRNA synthetase	164	Glutamate--tRNA ligase.				cellular response to interferon-gamma (GO:0071346)|gene expression (GO:0010467)|glutamyl-tRNA aminoacylation (GO:0006424)|negative regulation of translation (GO:0017148)|prolyl-tRNA aminoacylation (GO:0006433)|protein complex assembly (GO:0006461)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|GAIT complex (GO:0097452)|membrane (GO:0016020)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|glutamate-tRNA ligase activity (GO:0004818)|proline-tRNA ligase activity (GO:0004827)|RNA stem-loop binding (GO:0035613)			breast(2)|endometrium(11)|kidney(2)|large_intestine(13)|lung(24)|ovary(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(3)	63				GBM - Glioblastoma multiforme(131;0.0735)	L-Proline(DB00172)	CACTTGGTACCTACTGACTGG	0.438																																						ENST00000366923.3																			0				breast(2)|endometrium(11)|kidney(2)|large_intestine(13)|lung(24)|ovary(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(3)	63						c.(490-492)Ggt>Cgt		glutamyl-prolyl-tRNA synthetase	L-Glutamic Acid(DB00142)|L-Proline(DB00172)						116	105	108					1																	220205767		2203	4300	6503	SO:0001583	missense	2058				glutamyl-tRNA aminoacylation|prolyl-tRNA aminoacylation|protein complex assembly	cytosol|soluble fraction	ATP binding|glutamate-tRNA ligase activity|proline-tRNA ligase activity|protein binding|RNA binding	g.chr1:220205767C>G	X54326	CCDS31027.1	1q41	2011-07-01			ENSG00000136628	ENSG00000136628	6.1.1.15, 6.1.1.17	"Aminoacyl tRNA synthetases / Class I", "Aminoacyl tRNA synthetases / Class II"	3418	protein-coding gene	gene with protein product	"glutamate tRNA ligase", "proline tRNA ligase"	138295		QPRS, QARS		1988429	Standard	NM_004446		Approved	EARS, PARS, GLUPRORS	uc001hly.1	P07814	OTTHUMG00000037433	ENST00000366923.3:c.490G>C	1.37:g.220205767C>G	ENSP00000355890:p.Gly164Arg						p.G164R	NM_004446.2	NP_004437.2	P07814	SYEP_HUMAN		GBM - Glioblastoma multiforme(131;0.0735)	5	759	-			164			Glutamyl-tRNA synthetase.		A0AVA9|B9EGH3|Q05BP6|Q05DF8|Q5DSM1|Q5H9S5|Q6PD57|Q86X73	Missense_Mutation	SNP	ENST00000366923.3	37	c.490G>C	CCDS31027.1	.	.	.	.	.	.	.	.	.	.	C	15.78	2.934818	0.52866	.	.	ENSG00000136628	ENST00000366923;ENST00000536921;ENST00000435048	T	0.06849	3.25	5.84	4.93	0.64822	.	0.049607	0.85682	D	0.000000	T	0.15998	0.0385	M	0.67953	2.075	0.47123	D	0.999328	P;P	0.42010	0.768;0.558	P;B	0.47573	0.55;0.155	T	0.03344	-1.1046	10	0.25106	T	0.35	-15.8256	13.0492	0.58944	0.0:0.9259:0.0:0.0741	.	164;164	Q3KQZ8;P07814	.;SYEP_HUMAN	R	164	ENSP00000355890:G164R	ENSP00000355890:G164R	G	-	1	0	EPRS	218272390	0.912000	0.30974	0.311000	0.25182	0.817000	0.46193	2.850000	0.48294	1.480000	0.48289	0.557000	0.71058	GGT		0.438	EPRS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091133.2	NM_004446		4	127	0	0	0	0.150653	0	4	127					G	220205767	C	G	220205767	3	3	28	1	0	0	0	0	1	0	0	0	5191	681	24	5	4160	5	EPRS	1	220205767	Missense_Mutation	SNP	C	TCGA-CH-5762-01A-11D-1576-08	109988354	220205767	29044854	8	1333											
KIDINS220	57498	broad.mit.edu	37	chr2	8918770	8918770	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagccaatggcatcttaccCgtctattgagggctgtcttg	8	12	11	10	1	3	1	0	1	3	0	3	2	3	1	2	2	2	2	2	2	4	4			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr2:8918770C>T	ENST00000256707.3	-	20	2883	c.2702G>A	c.(2701-2703)cGg>cAg	p.R901Q	KIDINS220_ENST00000319688.5_Splice_Site_p.R902Q|KIDINS220_ENST00000427284.1_Splice_Site_p.R901Q|KIDINS220_ENST00000418530.1_Splice_Site_p.R859Q|KIDINS220_ENST00000473731.1_Splice_Site_p.R901Q	NM_020738.2	NP_065789.1	Q9ULH0	KDIS_HUMAN	kinase D-interacting substrate, 220kDa	901	KAP NTPase.				activation of MAPKK activity (GO:0000186)|cellular response to nerve growth factor stimulus (GO:1990090)|cytoplasmic transport (GO:0016482)|dendrite morphogenesis (GO:0048813)|in utero embryonic development (GO:0001701)|nerve growth factor signaling pathway (GO:0038180)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of neuron projection development (GO:0010976)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|membrane (GO:0016020)|protein complex (GO:0043234)	PDZ domain binding (GO:0030165)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(25)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	60	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					GCATCTTACCCGTCTATTGAG	0.363																																						ENST00000256707.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(25)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	60						c.e20+1		kinase D-interacting substrate, 220kDa							160	147	151					2																	8918770		1883	4111	5994	SO:0001630	splice_region_variant	57498				activation of MAPKK activity|nerve growth factor receptor signaling pathway	cytosol|integral to membrane		g.chr2:8918770C>T	AK025528	CCDS42650.1	2p24	2013-01-10			ENSG00000134313	ENSG00000134313		"Ankyrin repeat domain containing"	29508	protein-coding gene	gene with protein product	"ankyrin repeat-rich membrane-spanning protein"	615759				10998417, 10574462	Standard	NM_020738		Approved	ARMS	uc002qzc.2	Q9ULH0	OTTHUMG00000151658	ENST00000256707.3:c.2703+1G>A	2.37:g.8918770C>T						KIDINS220_ENST00000473731.1_Splice_Site_p.R901_splice|KIDINS220_ENST00000319688.5_Splice_Site_p.R902_splice|KIDINS220_ENST00000418530.1_Splice_Site_p.R859_splice|KIDINS220_ENST00000427284.1_Splice_Site_p.R901_splice	p.R901_splice	NM_020738.2	NP_065789.1	Q9ULH0	KDIS_HUMAN			20	2883	-	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		901			KAP NTPase.		A1L4N4|Q4VC08|Q6MZU2|Q9H889|Q9H9E4|Q9NT37|Q9UF42	Splice_Site	SNP	ENST00000256707.3	37	c.2703_splice	CCDS42650.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.178301	0.78564	.	.	ENSG00000134313	ENST00000496383;ENST00000541927;ENST00000256707;ENST00000427284;ENST00000418530;ENST00000473731;ENST00000489024;ENST00000319688	T;T;T;T;T;T;T	0.68025	0.83;-0.3;-0.27;-0.18;-0.27;-0.23;-0.21	5.86	5.86	0.93980	KAP P-loop (1);	0.104386	0.64402	D	0.000006	D	0.82710	0.5096	M	0.74881	2.28	0.80722	D	1	D;P;P;P	0.76494	0.999;0.883;0.928;0.896	D;P;P;P	0.80764	0.994;0.613;0.559;0.686	T	0.82725	-0.0315	10	0.59425	D	0.04	.	20.1785	0.98192	0.0:1.0:0.0:0.0	.	902;902;859;901	B4DK94;E9PH70;Q9ULH0-2;Q9ULH0	.;.;.;KDIS_HUMAN	Q	648;585;901;901;859;901;902;902	ENSP00000420364:R648Q;ENSP00000256707:R901Q;ENSP00000411849:R901Q;ENSP00000414923:R859Q;ENSP00000418974:R901Q;ENSP00000419964:R902Q;ENSP00000319947:R902Q	ENSP00000256707:R901Q	R	-	2	0	KIDINS220	8836221	1.000000	0.71417	1.000000	0.80357	0.096000	0.18686	7.770000	0.85390	2.773000	0.95371	0.655000	0.94253	CGG		0.363	KIDINS220-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323408.2	NM_020738	Missense_Mutation	9	353	0	0	0	0.335167	0	9	353					T	8918770	C	T	8918770	5	4	28	1	0	0	0	0	0	0	1	0	8271	666	23	2	2657	2	KIDINS220	2	8918770	Splice_Site	SNP	C	TCGA-CH-5762-01A-11D-1576-08		8918770	234280603	9	1334											
C2orf39	92749	broad.mit.edu	37	chr2	26671662	26671662	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggatcctgatgctcctgtgTgacgagtcggtgaggccagg	7	9	16	9	2	0	3	0	3	0	0	3	5	2	4	3	4	1	1	3	4	0	0			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr2:26671662T>C	ENST00000288710.2	+	11	1574	c.1500T>C	c.(1498-1500)tgT>tgC	p.C500C		NM_145038.2	NP_659475.2	Q96MC2	DRC1_HUMAN	dynein regulatory complex subunit 1	500					axonemal dynein complex assembly (GO:0070286)|bacterial-type flagellum-dependent cell motility (GO:0071973)|cilium-dependent cell motility (GO:0060285)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)											TGCTCCTGTGTGACGAGTCGG	0.602																																						ENST00000288710.2																			0											c.(1498-1500)tgT>tgC		dynein regulatory complex subunit 1 homolog (Chlamydomonas)							77	92	87					2																	26671662		2203	4300	6503	SO:0001819	synonymous_variant	92749							g.chr2:26671662T>C	AL833892	CCDS1723.1	2p23.3	2014-07-18	2014-07-18	2013-03-14	ENSG00000157856	ENSG00000157856			24245	protein-coding gene	gene with protein product		615288	"chromosome 2 open reading frame 39", "coiled-coil domain containing 164", "dynein regulatory complex subunit 1 homolog (Chlamydomonas)"	C2orf39, CCDC164		23354437	Standard	NM_145038		Approved	MGC16372, FLJ32660, CILD21	uc002rhg.2	Q96MC2	OTTHUMG00000125531	ENST00000288710.2:c.1500T>C	2.37:g.26671662T>C							p.C500C	NM_145038.2	NP_659475.2					11	1574	+								A8K1N8|Q53R91|Q53TA3|Q8NDI5	Silent	SNP	ENST00000288710.2	37	c.1500T>C	CCDS1723.1																																																																																				0.602	DRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246862.1	NM_145038		8	269	0	0	0	0.335167	0	8	269					C	26671662	T	C	26671662	2	2	28	1	0	0	0	0	0	0	0	1	2164	1702	59	4		4	C2orf39	2	26671662	Silent	SNP	T	TCGA-CH-5762-01A-11D-1576-08	17752892	26671662	216527711	10	1335											
RTKN	6242	broad.mit.edu	37	chr2	74666743	74666743	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ctccaggatgtgcaatctgtCctgcatctctgtgccccccg	5	11	9	16	1	2	0	0	0	2	0	5	1	4	1	5	1	3	2	5	1	1	0	rs112456374		TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr2:74666743C>T	ENST00000305557.5	-	2	592	c.7G>A	c.(7-9)Gac>Aac	p.D3N	RTKN_ENST00000233330.6_Intron|RTKN_ENST00000484453.1_Intron|RTKN_ENST00000272430.5_Intron	NM_033046.2	NP_149035.1			rhotekin									p.D3N(1)		endometrium(3)|large_intestine(5)|lung(5)|skin(2)|upper_aerodigestive_tract(1)	16						TGCAATCTGTCCTGCATCTCT	0.577																																						ENST00000305557.5																			1	Substitution - Missense(1)	p.D3N(1)	prostate(1)	endometrium(3)|large_intestine(5)|lung(5)|skin(2)|upper_aerodigestive_tract(1)	16						c.(7-9)Gac>Aac		rhotekin		C	,,ASN/ASP	0,4406		0,0,2203	180	129	147		,,7	4.9	1	2	dbSNP_132	147	1,8599	1.2+/-3.3	0,1,4299	no	intron,intron,missense	RTKN	NM_001015055.1,NM_001015056.1,NM_033046.2	,,23	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,,	,,3/551	74666743	1,13005	2203	4300	6503	SO:0001583	missense	6242				apoptosis|regulation of anti-apoptosis|Rho protein signal transduction	intracellular	GTP binding|GTP-Rho binding|GTPase inhibitor activity	g.chr2:74666743C>T	AF049227	CCDS1941.1, CCDS33226.1, CCDS42699.1	2p13.1	2013-01-10			ENSG00000114993	ENSG00000114993		"Pleckstrin homology (PH) domain containing"	10466	protein-coding gene	gene with protein product		602288				9073523, 10940294	Standard	XM_005264478		Approved	B5	uc002sle.3	Q9BST9	OTTHUMG00000129955	ENST00000305557.5:c.7G>A	2.37:g.74666743C>T	ENSP00000305298:p.Asp3Asn					RTKN_ENST00000272430.5_Intron|RTKN_ENST00000484453.1_Intron|RTKN_ENST00000233330.6_Intron	p.D3N	NM_033046.2	NP_149035.1	Q9BST9	RTKN_HUMAN			2	592	-			0						Missense_Mutation	SNP	ENST00000305557.5	37	c.7G>A	CCDS1941.1	.	.	.	.	.	.	.	.	.	.	C	29.1	4.973540	0.92919	0.0	1.16E-4	ENSG00000114993	ENST00000305557	T	0.36699	1.24	4.95	4.95	0.65309	.	.	.	.	.	T	0.61375	0.2342	.	.	.	0.80722	D	1	D	0.67145	0.996	D	0.79784	0.993	T	0.65627	-0.6122	8	0.72032	D	0.01	.	15.7188	0.77691	0.0:1.0:0.0:0.0	.	3	Q9BST9-2	.	N	3	ENSP00000305298:D3N	ENSP00000305298:D3N	D	-	1	0	RTKN	74520251	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	4.171000	0.58236	2.581000	0.87130	0.563000	0.77884	GAC		0.577	RTKN-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000252217.4	NM_001015055		11	48	0	0	0	0.361761	0	11	48					T	74666743	C	T	74666743	3	4	28	1	0	0	0	0	1	0	0	0	13722	855	30	3	1693	3	RTKN	2	74666743	Missense_Mutation	SNP	C	TCGA-CH-5762-01A-11D-1576-08	47995081	74666743	168532630	11	1336											
EIF2AK3	9451	broad.mit.edu	37	chr2	88870483	88870483	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaccgtctgctcttcctcaTcctggtccattgcagtcact	6	13	7	15	1	4	0	2	0	2	0	7	1	7	0	4	1	3	2	4	1	1	2			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr2:88870483T>A	ENST00000303236.3	-	14	3195	c.2894A>T	c.(2893-2895)gAt>gTt	p.D965V	EIF2AK3_ENST00000470706.1_5'UTR|EIF2AK3_ENST00000419748.1_Missense_Mutation_p.D814V|AC104134.2_ENST00000413234.1_RNA	NM_004836.5	NP_004827.4	Q9NZJ5	E2AK3_HUMAN	eukaryotic translation initiation factor 2-alpha kinase 3	965	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of signaling protein activity involved in unfolded protein response (GO:0006987)|bone mineralization (GO:0030282)|calcium-mediated signaling (GO:0019722)|cellular protein metabolic process (GO:0044267)|chondrocyte development (GO:0002063)|endocrine pancreas development (GO:0031018)|endoplasmic reticulum organization (GO:0007029)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER overload response (GO:0006983)|fat cell differentiation (GO:0045444)|insulin secretion (GO:0030073)|insulin-like growth factor receptor signaling pathway (GO:0048009)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|lactation (GO:0007595)|negative regulation of apoptotic process (GO:0043066)|negative regulation of gene expression (GO:0010629)|negative regulation of myelination (GO:0031642)|negative regulation of translation (GO:0017148)|negative regulation of translational initiation in response to stress (GO:0032057)|ossification (GO:0001503)|positive regulation of protein binding (GO:0032092)|positive regulation of signal transduction (GO:0009967)|protein autophosphorylation (GO:0046777)|protein homooligomerization (GO:0051260)|protein phosphorylation (GO:0006468)|regulation of fatty acid metabolic process (GO:0019217)|response to endoplasmic reticulum stress (GO:0034976)|skeletal system development (GO:0001501)|SREBP signaling pathway (GO:0032933)|translation (GO:0006412)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|eukaryotic translation initiation factor 2alpha kinase activity (GO:0004694)|identical protein binding (GO:0042802)|protein kinase activity (GO:0004672)|protein phosphatase binding (GO:0019903)|protein serine/threonine kinase activity (GO:0004674)	p.D965V(2)		ovary(3)	3						CTCTTCCTCATCCTGGTCCAT	0.463																																					GBM(138;671 1851 16235 39058 45249)	ENST00000303236.3																			2	Substitution - Missense(2)	p.D965V(2)	prostate(2)	ovary(3)	3						c.(2893-2895)gAt>gTt		eukaryotic translation initiation factor 2-alpha kinase 3							272	230	244					2																	88870483		2203	4300	6503	SO:0001583	missense	9451				activation of caspase activity|bone mineralization|calcium-mediated signaling|chondrocyte development|endocrine pancreas development|endoplasmic reticulum organization|endoplasmic reticulum unfolded protein response|ER overload response|insulin secretion|insulin-like growth factor receptor signaling pathway|negative regulation of myelination|negative regulation of translational initiation in response to stress|protein autophosphorylation|protein homooligomerization	endoplasmic reticulum membrane|integral to membrane	ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|identical protein binding	g.chr2:88870483T>A	AF110146	CCDS33241.1	2p12	2008-05-21			ENSG00000172071	ENSG00000172071			3255	protein-coding gene	gene with protein product		604032				10026192, 10575235	Standard	NM_004836		Approved	PEK, PERK	uc002stc.4	Q9NZJ5	OTTHUMG00000155046	ENST00000303236.3:c.2894A>T	2.37:g.88870483T>A	ENSP00000307235:p.Asp965Val					EIF2AK3_ENST00000419748.1_Missense_Mutation_p.D814V|AC104134.2_ENST00000413234.1_RNA|EIF2AK3_ENST00000470706.1_5'UTR	p.D965V	NM_004836.5	NP_004827.4	Q9NZJ5	E2AK3_HUMAN			14	3195	-			965			Protein kinase.		A0AVH1|A0AVH2|B2RCU9|O95846|Q53QY0|Q53SB1	Missense_Mutation	SNP	ENST00000303236.3	37	c.2894A>T	CCDS33241.1	.	.	.	.	.	.	.	.	.	.	T	27.7	4.858899	0.91433	.	.	ENSG00000172071	ENST00000419748;ENST00000303236;ENST00000535951;ENST00000415570	T;T;T	0.20069	2.1;2.1;2.1	5.9	5.9	0.94986	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.27349	0.0671	L	0.27053	0.805	0.80722	D	1	D	0.57899	0.981	P	0.54759	0.76	T	0.01428	-1.1357	10	0.32370	T	0.25	-29.1053	16.3264	0.82983	0.0:0.0:0.0:1.0	.	965	Q9NZJ5	E2AK3_HUMAN	V	814;965;814;844	ENSP00000408325:D814V;ENSP00000307235:D965V;ENSP00000412076:D844V	ENSP00000307235:D965V	D	-	2	0	EIF2AK3	88651598	1.000000	0.71417	0.992000	0.48379	0.979000	0.70002	8.040000	0.89188	2.259000	0.74868	0.374000	0.22700	GAT		0.463	EIF2AK3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000338233.2	NM_004836		39	252	0	0	0	0.812448	0	39	252					A	88870483	T	A	88870483	3	1	28	1	0	0	0	0	1	0	0	0	4998	1435	50	5	472	5	EIF2AK3	2	88870483	Missense_Mutation	SNP	T	TCGA-CH-5762-01A-11D-1576-08	14203740	88870483	154328890	12	1337											
NPAS2	4862	broad.mit.edu	37	chr2	101591316	101591316	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	actttaacacactcgacgtgGgtgcctcgggccttaatacc	9	10	9	13	3	0	0	0	0	0	0	2	1	0	0	3	2	3	0	3	2	3	4			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr2:101591316G>A	ENST00000335681.5	+	13	1477	c.1192G>A	c.(1192-1194)Ggt>Agt	p.G398S	NPAS2_ENST00000542504.1_Missense_Mutation_p.G463S|AC016738.3_ENST00000433012.1_RNA|AC016738.3_ENST00000446644.1_RNA|AC016738.3_ENST00000439150.1_RNA	NM_002518.3	NP_002509.2	Q99743	NPAS2_HUMAN	neuronal PAS domain protein 2	398					cellular lipid metabolic process (GO:0044255)|cellular response to DNA damage stimulus (GO:0006974)|central nervous system development (GO:0007417)|circadian regulation of gene expression (GO:0032922)|circadian sleep/wake cycle (GO:0042745)|locomotor rhythm (GO:0045475)|negative regulation of cell death (GO:0060548)|positive regulation of DNA repair (GO:0045739)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of response to DNA damage stimulus (GO:2001020)|response to redox state (GO:0051775)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	core promoter binding (GO:0001047)|DNA binding (GO:0003677)|Hsp90 protein binding (GO:0051879)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)	p.G398S(1)		cervix(1)|endometrium(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						ACTCGACGTGGGTGCCTCGGG	0.532																																						ENST00000335681.5																			1	Substitution - Missense(1)	p.G398S(1)	prostate(1)	cervix(1)|endometrium(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(1192-1194)Ggt>Agt		neuronal PAS domain protein 2							102	88	93					2																	101591316		2203	4300	6503	SO:0001583	missense	4862				central nervous system development|positive regulation of transcription from RNA polymerase II promoter|rhythmic process	transcription factor complex	DNA binding|Hsp90 protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr2:101591316G>A	U77970	CCDS2048.1	2q11.2	2013-05-21			ENSG00000170485	ENSG00000170485		"Basic helix-loop-helix proteins"	7895	protein-coding gene	gene with protein product		603347				9012850, 9079689	Standard	NM_002518		Approved	MOP4, PASD4, bHLHe9	uc002tap.1	Q99743	OTTHUMG00000130675	ENST00000335681.5:c.1192G>A	2.37:g.101591316G>A	ENSP00000338283:p.Gly398Ser					AC016738.3_ENST00000439150.1_RNA|NPAS2_ENST00000542504.1_Missense_Mutation_p.G463S|AC016738.3_ENST00000446644.1_RNA	p.G398S	NM_002518.3	NP_002509.2	Q99743	NPAS2_HUMAN			13	1477	+			398					Q4ZFV9|Q53SQ3|Q86V96|Q99629	Missense_Mutation	SNP	ENST00000335681.5	37	c.1192G>A	CCDS2048.1	.	.	.	.	.	.	.	.	.	.	G	9.128	1.010767	0.19277	.	.	ENSG00000170485	ENST00000335681;ENST00000542504	T;T	0.05319	3.49;3.46	6.17	5.3	0.74995	.	0.256694	0.46758	N	0.000273	T	0.06508	0.0167	L	0.41079	1.255	0.18873	N	0.999981	B;B	0.25955	0.138;0.047	B;B	0.23852	0.049;0.015	T	0.31558	-0.9939	10	0.29301	T	0.29	.	10.745	0.46175	0.1437:0.0:0.8563:0.0	.	463;398	F5H027;Q99743	.;NPAS2_HUMAN	S	398;463	ENSP00000338283:G398S;ENSP00000438428:G463S	ENSP00000338283:G398S	G	+	1	0	NPAS2	100957748	0.881000	0.30235	0.014000	0.15608	0.073000	0.16967	2.092000	0.41700	1.631000	0.50456	0.655000	0.94253	GGT		0.532	NPAS2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253168.3			18	82	0	0	0	0.539581	0	18	82					A	101591316	G	A	101591316	3	1	28	1	0	0	0	0	1	0	0	0	10563	1232	43	3	1238	3	NPAS2	2	101591316	Missense_Mutation	SNP	G	TCGA-CH-5762-01A-11D-1576-08	12720833	101591316	141608057	13	1338											
SLC20A1	6574	broad.mit.edu	37	chr2	113420507	113420507	+	Frame_Shift_Del	DEL	A	A	-																															ttgactggcgtctctttcgtAacatttttatggcctggttt																										TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr2:113420507delA	ENST00000272542.3	+	11	2484	c.1945delA	c.(1945-1947)aacfs	p.N649fs		NM_005415.4	NP_005406.3	Q8WUM9	S20A1_HUMAN	solute carrier family 20 (phosphate transporter), member 1	649					ion transport (GO:0006811)|phosphate ion transmembrane transport (GO:0035435)|phosphate-containing compound metabolic process (GO:0006796)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	high-affinity inorganic phosphate:sodium symporter activity (GO:0005316)|inorganic phosphate transmembrane transporter activity (GO:0005315)|receptor activity (GO:0004872)|signal transducer activity (GO:0004871)|sodium:phosphate symporter activity (GO:0005436)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(2)|lung(8)|ovary(3)|skin(1)|urinary_tract(3)	28						TCTCTTTCGTAACATTTTTAT	0.478																																						ENST00000272542.3																			0				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(2)|lung(8)|ovary(3)|skin(1)|urinary_tract(3)	28						c.(1945-1947)acfs		solute carrier family 20 (phosphate transporter), member 1							191	174	180					2																	113420507		2203	4300	6503	SO:0001589	frameshift_variant	6574				phosphate metabolic process|positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to plasma membrane	inorganic phosphate transmembrane transporter activity|receptor activity|sodium-dependent phosphate transmembrane transporter activity	g.chr2:113420507delA		CCDS2099.1	2q13	2013-05-22			ENSG00000144136	ENSG00000144136		"Solute carriers"	10946	protein-coding gene	gene with protein product	"gibbon ape leukemia virus receptor 1"	137570		GLVR1		8041748	Standard	NM_005415		Approved	PiT-1, Glvr-1	uc002tib.3	Q8WUM9	OTTHUMG00000131317	ENST00000272542.3:c.1945delA	2.37:g.113420507delA	ENSP00000272542:p.Asn649fs						p.N649fs	NM_005415.4	NP_005406.3	Q8WUM9	S20A1_HUMAN			11	2484	+			649					Q08344|Q6DHX8|Q9UQ82	Frame_Shift_Del	DEL	ENST00000272542.3	37	c.1945delA	CCDS2099.1																																																																																				0.478	SLC20A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254086.2	NM_005415		37	238						37	238	---	---	---	---	-	113420507	A	-	113420507	7	5	28	1	0	1	0	1	0	0	0	0	14438	362	13	0	1983	0	SLC20A1	2	113420507	Frame_Shift_Del	DEL	A	TCGA-CH-5762-01A-11D-1576-08	11829191	113420507	129778866	14	1339											
LIMS2	55679	broad.mit.edu	37	chr2	128399723	128399723	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccatcttgtcatggcagggCaggcagtagagctcaccctt	8	9	11	13	0	3	1	2	0	1	1	3	1	3	1	2	3	1	5	2	3	1	3			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr2:128399723C>A	ENST00000355119.4	-	6	726	c.561G>T	c.(559-561)ctG>ctT	p.L187L	LIMS2_ENST00000409254.1_Silent_p.L35L|LIMS2_ENST00000410011.1_Silent_p.L182L|LIMS2_ENST00000409754.1_Silent_p.L35L|LIMS2_ENST00000410038.1_Silent_p.L35L|LIMS2_ENST00000545738.2_Silent_p.L209L|LIMS2_ENST00000494613.1_5'Flank|LIMS2_ENST00000409455.1_Silent_p.L182L|LIMS2_ENST00000409808.2_Silent_p.L182L|LIMS2_ENST00000324938.5_Silent_p.L211L|LIMS2_ENST00000409286.1_Silent_p.L35L	NM_001161403.1	NP_001154875.1	Q7Z4I7	LIMS2_HUMAN	LIM and senescent cell antigen-like domains 2	187	LIM zinc-binding 3. {ECO:0000255|PROSITE- ProRule:PRU00125}.				cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|negative regulation of apoptotic process (GO:0043066)|negative regulation of hepatocyte proliferation (GO:2000346)|negative regulation of neural precursor cell proliferation (GO:2000178)|positive regulation of integrin-mediated signaling pathway (GO:2001046)|single organismal cell-cell adhesion (GO:0016337)	cytosol (GO:0005829)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	zinc ion binding (GO:0008270)	p.L211L(1)		endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0681)		CATGGCAGGGCAGGCAGTAGA	0.692																																						ENST00000409455.1																			1	Substitution - coding silent(1)	p.L211L(1)	prostate(1)	endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						c.(544-546)ctG>ctT		LIM and senescent cell antigen-like domains 2							23	25	25					2																	128399723		2197	4296	6493	SO:0001819	synonymous_variant	55679				cell junction assembly	cytosol|focal adhesion|nucleus	zinc ion binding	g.chr2:128399723C>A	AF520987	CCDS2147.1, CCDS54394.1, CCDS54395.1, CCDS54396.1, CCDS58725.1	2q21.1	2008-02-05			ENSG00000072163	ENSG00000072163			16084	protein-coding gene	gene with protein product		607908					Standard	NM_017980		Approved		uc002tox.3	Q7Z4I7	OTTHUMG00000131529	ENST00000355119.4:c.561G>T	2.37:g.128399723C>A						LIMS2_ENST00000355119.4_Silent_p.L187L|LIMS2_ENST00000409808.2_Silent_p.L182L|LIMS2_ENST00000409754.1_Silent_p.L35L|LIMS2_ENST00000410011.1_Silent_p.L182L|LIMS2_ENST00000409286.1_Silent_p.L35L|LIMS2_ENST00000545738.2_Silent_p.L209L|LIMS2_ENST00000410038.1_Silent_p.L35L|LIMS2_ENST00000409254.1_Silent_p.L35L|LIMS2_ENST00000324938.5_Silent_p.L211L	p.L182L			Q7Z4I7	LIMS2_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0681)	6	1181	-	Colorectal(110;0.1)		187			LIM zinc-binding 3.		A6NLH0|B4DMV1|F5H6E6|Q7Z4I2|Q7Z4I6|Q7Z4I8|Q8NFE7|Q9HA13	Silent	SNP	ENST00000355119.4	37	c.546G>T	CCDS54395.1																																																																																				0.692	LIMS2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000331133.2	NM_017980		7	17	1	0	0.0381472	0.27861	0.0404514	7	17					A	128399723	C	A	128399723	2	1	28	1	0	0	0	0	0	0	0	1	8804	697	25	5		5	LIMS2	2	128399723	Silent	SNP	C	TCGA-CH-5762-01A-11D-1576-08	14979216	128399723	114799650	15	1340											
LY75	4065	broad.mit.edu	37	chr2	160710869	160710869	+	Splice_Site	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aaaatatattcttttaaattAcatttgctattttgtttttg	12	23	3	3	0	1	0	0	0	1	0	1	0	1	0	0	0	2	2	0	0	8	12			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr2:160710869A>T	ENST00000263636.4	-	18	2623		c.e18+1		LY75-CD302_ENST00000504764.1_Splice_Site|LY75_ENST00000554112.1_Splice_Site|LY75_ENST00000553424.1_Splice_Site|LY75-CD302_ENST00000505052.1_Splice_Site	NM_002349.3	NP_002340.2	O60449	LY75_HUMAN	lymphocyte antigen 75						endocytosis (GO:0006897)|immune response (GO:0006955)|inflammatory response (GO:0006954)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)	p.?(1)		NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(22)|prostate(7)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	59				COAD - Colon adenocarcinoma(177;0.132)		cttttaaattaCATTTGCTAT	0.254																																						ENST00000263636.4																			1	Unknown(1)	p.?(1)	prostate(1)	NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(22)|prostate(7)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	59						c.e18+1		lymphocyte antigen 75							25	25	25					2																	160710869		2192	4298	6490	SO:0001630	splice_region_variant	4065							g.chr2:160710869A>T	AF011333	CCDS2211.1	2q24	2011-08-30			ENSG00000054219	ENSG00000054219		"CD molecules", "C-type lectin domain containing"	6729	protein-coding gene	gene with protein product		604524				9553150	Standard	NM_002349		Approved	DEC-205, CLEC13B, CD205		O60449	OTTHUMG00000132025	ENST00000263636.4:c.2595+1T>A	2.37:g.160710869A>T						LY75-CD302_ENST00000504764.1_Splice_Site|LY75_ENST00000554112.1_Splice_Site|LY75-CD302_ENST00000505052.1_Splice_Site|LY75_ENST00000553424.1_Splice_Site		NM_002349.3	NP_002340.2				COAD - Colon adenocarcinoma(177;0.132)	18	2623	-								O75913|Q53R46|Q53TF5|Q7Z575|Q7Z577	Splice_Site	SNP	ENST00000263636.4	37		CCDS2211.1																																																																																				0.254	LY75-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000255035.1		Intron	5	73	0	0	0	0.184627	0	5	73					T	160710869	A	T	160710869	5	4	28	1	0	0	0	0	0	0	1	0	9099	405	14	5	2643	5	LY75	2	160710869	Splice_Site	SNP	A	TCGA-CH-5762-01A-11D-1576-08	32311146	160710869	82488504	16	1341											
ITGA6	3655	broad.mit.edu	37	chr2	173349859	173349859	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tttcatgcaggataatatcaGagataaactgcgtcccattc	13	12	7	9	1	2	1	2	0	0	1	4	3	3	2	1	1	3	1	1	1	4	5			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr2:173349859G>C	ENST00000264106.6	+	14	2041	c.1838G>C	c.(1837-1839)aGa>aCa	p.R613T	ITGA6_ENST00000409532.1_Missense_Mutation_p.R455T|ITGA6_ENST00000375221.2_Missense_Mutation_p.R613T|ITGA6_ENST00000264107.7_Missense_Mutation_p.R574T|ITGA6_ENST00000409080.1_Missense_Mutation_p.R574T|ITGA6_ENST00000343713.4_Missense_Mutation_p.R569T|AC093818.1_ENST00000442417.1_RNA			P23229	ITA6_HUMAN	integrin, alpha 6	613					amelogenesis (GO:0097186)|blood coagulation (GO:0007596)|brown fat cell differentiation (GO:0050873)|cell adhesion mediated by integrin (GO:0033627)|cell junction assembly (GO:0034329)|cell-matrix adhesion (GO:0007160)|cell-substrate adhesion (GO:0031589)|cell-substrate junction assembly (GO:0007044)|cellular response to extracellular stimulus (GO:0031668)|cellular response to organic cyclic compound (GO:0071407)|digestive tract development (GO:0048565)|ectodermal cell differentiation (GO:0010668)|extracellular matrix organization (GO:0030198)|filopodium assembly (GO:0046847)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|nail development (GO:0035878)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of phosphorylation (GO:0042327)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|renal system development (GO:0072001)|single organismal cell-cell adhesion (GO:0016337)|skin development (GO:0043588)	basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell surface (GO:0009986)|cell-cell adherens junction (GO:0005913)|external side of plasma membrane (GO:0009897)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integrin alpha6-beta4 complex (GO:0034676)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	44			OV - Ovarian serous cystadenocarcinoma(117;0.0979)			GATAATATCAGAGATAAACTG	0.428																																						ENST00000375221.2																			0				NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	44						c.(1837-1839)aGa>aCa		integrin, alpha 6							86	83	84					2																	173349859		2203	4300	6503	SO:0001583	missense	0				blood coagulation|cell adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|positive regulation of apoptosis|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter	integrin complex	protein binding|receptor activity	g.chr2:173349859G>C		CCDS2249.1, CCDS46451.1	2q31.1	2010-09-20			ENSG00000091409	ENSG00000091409		"CD molecules", "Integrins"	6142	protein-coding gene	gene with protein product		147556					Standard	NM_001079818		Approved	CD49f	uc002uhp.1	P23229	OTTHUMG00000132277	ENST00000264106.6:c.1838G>C	2.37:g.173349859G>C	ENSP00000264106:p.Arg613Thr					ITGA6_ENST00000409532.1_Missense_Mutation_p.R455T|ITGA6_ENST00000409080.1_Missense_Mutation_p.R574T|ITGA6_ENST00000343713.4_Missense_Mutation_p.R569T|ITGA6_ENST00000264107.7_Missense_Mutation_p.R574T|ITGA6_ENST00000264106.6_Missense_Mutation_p.R613T|AC093818.1_ENST00000442417.1_RNA	p.R613T			P23229	ITA6_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0979)		14	2041	+			613					B2RMU9|B4DG69|B4DKB8|C4AM96|G5E9H1|Q08443|Q0MRC7|Q14646|Q16508|Q53RX7|Q59HB7|Q86VL6|Q9UCT1|Q9UN03	Missense_Mutation	SNP	ENST00000264106.6	37	c.1838G>C		.	.	.	.	.	.	.	.	.	.	G	16.75	3.208641	0.58343	.	.	ENSG00000091409	ENST00000409532;ENST00000264107;ENST00000264106;ENST00000375221;ENST00000343713;ENST00000409080;ENST00000442250;ENST00000458358	T;T;T;T;T;T;T;T	0.53857	0.6;0.6;0.6;0.6;0.6;0.6;0.6;0.6	5.8	5.8	0.92144	.	0.123903	0.64402	D	0.000001	T	0.67353	0.2884	M	0.74389	2.26	0.49915	D	0.999834	P;P;P;P	0.51933	0.486;0.949;0.734;0.734	B;P;P;P	0.58928	0.356;0.848;0.535;0.571	T	0.70502	-0.4854	10	0.87932	D	0	.	11.382	0.49763	0.1136:0.0:0.8864:0.0	.	569;613;574;574	P23229-4;P23229-9;G5E9H1;P23229-2	.;.;.;.	T	455;574;613;613;569;574;613;569	ENSP00000386614:R455T;ENSP00000264107:R574T;ENSP00000264106:R613T;ENSP00000364369:R613T;ENSP00000341078:R569T;ENSP00000386896:R574T;ENSP00000406694:R613T;ENSP00000394169:R569T	ENSP00000264106:R613T	R	+	2	0	ITGA6	173058105	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	2.690000	0.47001	2.735000	0.93741	0.655000	0.94253	AGA		0.428	ITGA6-201	KNOWN	basic	protein_coding	protein_coding				6	171	0	0	0	0.217242	0	6	171					C	173349859	G	C	173349859	3	2	28	1	0	0	0	0	1	0	0	0	7880	942	33	5	1771	5	ITGA6	2	173349859	Missense_Mutation	SNP	G	TCGA-CH-5762-01A-11D-1576-08	12638990	173349859	69849514	17	1342											
STAT4	6775	broad.mit.edu	37	chr2	191897839	191897839	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gcagagcagacaaccggcctTtattgtagggttctacagag	11	9	12	9	1	1	3	0	0	1	3	1	3	1	3	2	2	3	4	2	2	4	6			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr2:191897839T>G	ENST00000392320.2	-	21	2203	c.1889A>C	c.(1888-1890)aAa>aCa	p.K630T	STAT4_ENST00000358470.4_Missense_Mutation_p.K630T|AC067945.4_ENST00000456176.1_RNA	NM_003151.3	NP_003142.1	Q14765	STAT4_HUMAN	signal transducer and activator of transcription 4	630	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				cell proliferation (GO:0008283)|cytokine-mediated signaling pathway (GO:0019221)|JAK-STAT cascade (GO:0007259)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			breast(4)|endometrium(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.0864)|all cancers(119;0.204)			CAACCGGCCTTTATTGTAGGG	0.423																																						ENST00000392320.2																			0				breast(4)|endometrium(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	42						c.(1888-1890)aAa>aCa		signal transducer and activator of transcription 4							90	92	91					2																	191897839		2203	4300	6503	SO:0001583	missense	6775				JAK-STAT cascade	cytoplasm|nucleus	calcium ion binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr2:191897839T>G		CCDS2310.1	2q32.2-q32.3	2013-02-14			ENSG00000138378	ENSG00000138378		"SH2 domain containing"	11365	protein-coding gene	gene with protein product		600558				8007943, 8700208	Standard	NM_003151		Approved		uc002usn.2	Q14765	OTTHUMG00000132700	ENST00000392320.2:c.1889A>C	2.37:g.191897839T>G	ENSP00000376134:p.Lys630Thr					STAT4_ENST00000358470.4_Missense_Mutation_p.K630T	p.K630T	NM_003151.3	NP_003142.1	Q14765	STAT4_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.0864)|all cancers(119;0.204)		21	2203	-			630			SH2.		Q96NZ6	Missense_Mutation	SNP	ENST00000392320.2	37	c.1889A>C	CCDS2310.1	.	.	.	.	.	.	.	.	.	.	T	26.9	4.784991	0.90282	.	.	ENSG00000138378	ENST00000358470;ENST00000392320	D;D	0.96554	-4.05;-4.05	5.38	5.38	0.77491	SH2 motif (3);	0.000000	0.85682	D	0.000000	D	0.97467	0.9171	L	0.56396	1.775	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.87578	0.998;0.998;0.998	D	0.98348	1.0542	10	0.87932	D	0	-54.9658	15.6918	0.77461	0.0:0.0:0.0:1.0	.	539;630;630	Q53S87;B4DV04;Q14765	.;.;STAT4_HUMAN	T	630	ENSP00000351255:K630T;ENSP00000376134:K630T	ENSP00000351255:K630T	K	-	2	0	STAT4	191606084	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.997000	0.88414	2.159000	0.67721	0.528000	0.53228	AAA		0.423	STAT4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335586.1	NM_003151		3	128	0	0	0	0.115264	0	3	128					G	191897839	T	G	191897839	3	3	28	1	0	0	0	0	1	0	0	0	15266	1841	64	5	373	5	STAT4	2	191897839	Missense_Mutation	SNP	T	TCGA-CH-5762-01A-11D-1576-08	18547980	191897839	51301534	18	1343											
MARS2	92935	broad.mit.edu	37	chr2	198571112	198571112	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tgccttcctgttaggggccgGcatgagcccgccacagcgca	6	7	13	15	3	0	1	0	1	0	0	1	1	1	1	5	3	3	3	5	3	1	2			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr2:198571112G>A	ENST00000282276.6	+	1	1026	c.983G>A	c.(982-984)gGc>gAc	p.G328D	AC011997.1_ENST00000409845.1_Intron	NM_138395.3	NP_612404.1	Q96GW9	SYMM_HUMAN	methionyl-tRNA synthetase 2, mitochondrial	328					cell death (GO:0008219)|gene expression (GO:0010467)|methionyl-tRNA aminoacylation (GO:0006431)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrial matrix (GO:0005759)	ATP binding (GO:0005524)|methionine-tRNA ligase activity (GO:0004825)	p.G328D(1)		breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	22					L-Methionine(DB00134)	TTAGGGGCCGGCATGAGCCCG	0.542																																						ENST00000282276.6																			1	Substitution - Missense(1)	p.G328D(1)	lung(1)	breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	22						c.(982-984)gGc>gAc		methionyl-tRNA synthetase 2, mitochondrial	L-Methionine(DB00134)						128	126	127					2																	198571112		2203	4300	6503	SO:0001583	missense	92935				methionyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|methionine-tRNA ligase activity	g.chr2:198571112G>A	BC009115	CCDS33358.1	2q33.1	2014-01-30	2007-02-26		ENSG00000247626	ENSG00000247626	6.1.1.10	"Aminoacyl tRNA synthetases / Class I"	25133	protein-coding gene	gene with protein product	"methionine tRNA ligase 2, mitochondrial"	609728				15274629	Standard	NM_138395		Approved	mtMetRS, SPAX3	uc002uuq.3	Q96GW9	OTTHUMG00000154487	ENST00000282276.6:c.983G>A	2.37:g.198571112G>A	ENSP00000282276:p.Gly328Asp					AC011997.1_ENST00000409845.1_Intron	p.G328D	NM_138395.3	NP_612404.1	Q96GW9	SYMM_HUMAN			1	1026	+			328					A0AVC3|Q76E79|Q8IW62|Q8N7N4	Missense_Mutation	SNP	ENST00000282276.6	37	c.983G>A	CCDS33358.1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.352276	0.82132	.	.	ENSG00000247626	ENST00000282276;ENST00000499940	T	0.56611	0.45	5.45	5.45	0.79879	Aminoacyl-tRNA synthetase, class I (M) (1);Rossmann-like alpha/beta/alpha sandwich fold (1);	0.109437	0.64402	D	0.000007	T	0.55401	0.1918	L	0.56340	1.77	0.80722	D	1	P	0.40376	0.715	P	0.46685	0.524	T	0.47156	-0.9139	10	0.13108	T	0.6	-14.7498	16.7845	0.85571	0.0:0.0:1.0:0.0	.	328	Q96GW9	SYMM_HUMAN	D	328;255	ENSP00000282276:G328D	ENSP00000282276:G328D	G	+	2	0	MARS2	198279357	1.000000	0.71417	0.917000	0.36280	0.977000	0.68977	9.746000	0.98859	2.575000	0.86900	0.655000	0.94253	GGC		0.542	MARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335477.1	NM_138395		7	387	0	0	0	0.248553	0	7	387					A	198571112	G	A	198571112	3	1	28	1	0	0	0	0	1	0	0	0	9317	1203	42	3	985	3	MARS2	2	198571112	Missense_Mutation	SNP	G	TCGA-CH-5762-01A-11D-1576-08	6673273	198571112	44628261	19	1344											
ICA1L	130026	broad.mit.edu	37	chr2	203661648	203661648	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaactgaggtgctccaaatTctctcatttgagaatgtttt	12	15	7	7	0	2	2	1	2	1	1	4	3	3	2	1	1	2	2	1	1	4	4			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr2:203661648T>A	ENST00000392237.2	-	11	1107	c.950A>T	c.(949-951)gAa>gTa	p.E317V	ICA1L_ENST00000358299.2_Missense_Mutation_p.E317V	NM_138468.4	NP_612477.3	Q8NDH6	ICA1L_HUMAN	islet cell autoantigen 1,69kDa-like	317								p.E317V(1)		breast(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TGCTCCAAATTCTCTCATTTG	0.279																																						ENST00000392237.2																			1	Substitution - Missense(1)	p.E317V(1)	prostate(1)	breast(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						c.(949-951)gAa>gTa		islet cell autoantigen 1,69kDa-like							83	79	80					2																	203661648		2201	4295	6496	SO:0001583	missense	130026							g.chr2:203661648T>A	AB053317	CCDS2354.1, CCDS74632.1	2q33	2008-02-05	2006-05-26	2006-05-26	ENSG00000163596	ENSG00000163596			14442	protein-coding gene	gene with protein product			"amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 15", "amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 14"	ALS2CR15, ALS2CR14		11586298	Standard	NM_138468		Approved		uc002uzh.1	Q8NDH6	OTTHUMG00000132856	ENST00000392237.2:c.950A>T	2.37:g.203661648T>A	ENSP00000376070:p.Glu317Val					ICA1L_ENST00000358299.2_Missense_Mutation_p.E317V	p.E317V	NM_138468.4	NP_612477.3	Q8NDH6	ICA1L_HUMAN			11	1107	-			317					B3KRW6|Q53P45|Q53QZ4|Q53T97|Q96N47|Q96Q32|Q9BVQ2	Missense_Mutation	SNP	ENST00000392237.2	37	c.950A>T	CCDS2354.1	.	.	.	.	.	.	.	.	.	.	t	11.24	1.580975	0.28180	.	.	ENSG00000163596	ENST00000392237;ENST00000358299	.	.	.	3.65	2.49	0.30216	Islet cell autoantigen Ica1, C-terminal (1);	0.633514	0.15808	N	0.243638	T	0.50274	0.1606	M	0.63428	1.95	0.80722	D	1	B	0.24317	0.101	B	0.25506	0.061	T	0.43718	-0.9374	9	0.45353	T	0.12	.	5.5385	0.17026	0.0:0.1345:0.0:0.8655	.	317	Q8NDH6	ICA1L_HUMAN	V	317	.	ENSP00000351047:E317V	E	-	2	0	ICA1L	203369893	0.671000	0.27521	0.929000	0.37066	0.850000	0.48378	1.421000	0.34815	0.431000	0.26258	0.478000	0.44815	GAA		0.279	ICA1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256330.1	NM_138468		11	86	0	0	0	0.38729	0	11	86					A	203661648	T	A	203661648	3	1	28	1	0	0	0	0	1	0	0	0	7478	1783	62	5	514	5	ICA1L	2	203661648	Missense_Mutation	SNP	T	TCGA-CH-5762-01A-11D-1576-08	5090536	203661648	39537725	20	1345											
FZD5	7855	broad.mit.edu	37	chr2	208632596	208632596	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cacgctggcatggcccacgaCcagacgcaccaggaagccca	11	2	11	17	3	0	1	0	0	0	1	0	3	0	2	4	3	1	3	4	3	1	0			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr2:208632596C>G	ENST00000295417.3	-	2	1421	c.868G>C	c.(868-870)Gtc>Ctc	p.V290L		NM_003468.3	NP_003459.2	Q13467	FZD5_HUMAN	frizzled class receptor 5	290					angiogenesis (GO:0001525)|anterior/posterior axis specification, embryo (GO:0008595)|apoptotic process (GO:0006915)|apoptotic process involved in morphogenesis (GO:0060561)|axonogenesis (GO:0007409)|brain development (GO:0007420)|branching involved in labyrinthine layer morphogenesis (GO:0060670)|canonical Wnt signaling pathway (GO:0060070)|cell maturation (GO:0048469)|cellular response to molecule of bacterial origin (GO:0071219)|chorionic trophoblast cell differentiation (GO:0060718)|embryonic axis specification (GO:0000578)|embryonic camera-type eye development (GO:0031076)|gonad development (GO:0008406)|labyrinthine layer blood vessel development (GO:0060716)|negative regulation of cell proliferation (GO:0008285)|neuron differentiation (GO:0030182)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic camera-type eye development (GO:0031077)|regulation of canonical Wnt signaling pathway (GO:0060828)|regulation of chorionic trophoblast cell proliferation (GO:1901382)|regulation of tight junction assembly (GO:2000810)|Spemann organizer formation (GO:0060061)|syncytiotrophoblast cell differentiation involved in labyrinthine layer development (GO:0060715)|T cell differentiation in thymus (GO:0033077)|Wnt signaling pathway involved in dorsal/ventral axis specification (GO:0044332)	cell projection (GO:0042995)|cell surface (GO:0009986)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|protein kinase binding (GO:0019901)|ubiquitin protein ligase binding (GO:0031625)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)	p.V290L(2)		NS(1)|kidney(1)|lung(1)|ovary(2)|prostate(1)|skin(1)	7				LUSC - Lung squamous cell carcinoma(261;0.0703)|Epithelial(149;0.13)|Lung(261;0.134)		TGGCCCACGACCAGACGCACC	0.622																																						ENST00000295417.3																			2	Substitution - Missense(2)	p.V290L(2)	prostate(2)	NS(1)|kidney(1)|lung(1)|ovary(2)|prostate(1)|skin(1)	7						c.(868-870)Gtc>Ctc		frizzled family receptor 5							55	50	52					2																	208632596		2201	4296	6497	SO:0001583	missense	7855				angiogenesis|anterior/posterior axis specification, embryo|axonogenesis|brain development|canonical Wnt receptor signaling pathway|cellular response to molecule of bacterial origin|embryonic camera-type eye development|gonad development|labyrinthine layer blood vessel development|positive regulation of interferon-gamma production|positive regulation of transcription from RNA polymerase II promoter|post-embryonic camera-type eye development|Spemann organizer formation|T cell differentiation in thymus|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	cell projection|cell surface|Golgi membrane|integral to membrane|plasma membrane	G-protein coupled receptor activity|PDZ domain binding|protein kinase binding|Wnt-protein binding	g.chr2:208632596C>G	U43318	CCDS33366.1	2q33.3	2014-01-29	2014-01-29		ENSG00000163251	ENSG00000163251		"GPCR / Class F : Frizzled receptors"	4043	protein-coding gene	gene with protein product		601723	"frizzled (Drosophila) homolog 5", "chromosome 2 open reading frame 31", "frizzled homolog 5 (Drosophila)", "frizzled 5, seven transmembrane spanning receptor", "frizzled family receptor 5"	C2orf31		8626800, 11408929	Standard	NM_003468		Approved	HFZ5, DKFZP434E2135	uc002vcj.3	Q13467	OTTHUMG00000154790	ENST00000295417.3:c.868G>C	2.37:g.208632596C>G	ENSP00000354607:p.Val290Leu						p.V290L	NM_003468.3	NP_003459.2	Q13467	FZD5_HUMAN		LUSC - Lung squamous cell carcinoma(261;0.0703)|Epithelial(149;0.13)|Lung(261;0.134)	2	1421	-			290					A8K2X1|B2RCZ1|Q53R22	Missense_Mutation	SNP	ENST00000295417.3	37	c.868G>C	CCDS33366.1	.	.	.	.	.	.	.	.	.	.	C	9.187	1.025055	0.19433	.	.	ENSG00000163251	ENST00000295417	D	0.81659	-1.52	5.05	5.05	0.67936	GPCR, family 2-like (1);	0.248861	0.32287	U	0.006316	T	0.68531	0.3011	L	0.31294	0.92	0.43145	D	0.994907	B	0.14805	0.011	B	0.21151	0.033	T	0.62320	-0.6879	10	0.14252	T	0.57	.	11.5343	0.50628	0.0:0.9167:0.0:0.0833	.	290	Q13467	FZD5_HUMAN	L	290	ENSP00000354607:V290L	ENSP00000354607:V290L	V	-	1	0	FZD5	208340841	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	2.539000	0.45718	2.355000	0.79922	0.561000	0.74099	GTC		0.622	FZD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337060.1	NM_003468		4	19	0	0	0	0.150653	0	4	19					G	208632596	C	G	208632596	3	3	28	1	0	0	0	0	1	0	0	0	6133	507	18	5	893	5	FZD5	2	208632596	Missense_Mutation	SNP	C	TCGA-CH-5762-01A-11D-1576-08	4970948	208632596	34566777	21	1346											
PTH2R	5746	broad.mit.edu	37	chr2	209302260	209302260	+	Splice_Site	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tttaatttttttttctcattAgaaggtaattgtttccctga	9	22	5	5	0	1	2	1	1	1	1	3	2	2	2	1	1	0	2	1	1	4	10			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr2:209302260A>T	ENST00000272847.2	+	3	391		c.e3-1		PTH2R_ENST00000413482.1_Splice_Site	NM_005048.2	NP_005039.1	P49190	PTH2R_HUMAN	parathyroid hormone 2 receptor						G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	parathyroid hormone receptor activity (GO:0004991)			breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(21)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43				Epithelial(149;0.0684)|Lung(261;0.0785)|LUSC - Lung squamous cell carcinoma(261;0.0836)	Preotact(DB05829)	TTTTCTCATTAGAAGGTAATT	0.348																																						ENST00000272847.2																			0				breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(21)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43						c.e3-1		parathyroid hormone 2 receptor							51	54	53					2																	209302260		2198	4299	6497	SO:0001630	splice_region_variant	5746					integral to plasma membrane	parathyroid hormone receptor activity	g.chr2:209302260A>T	BC036811	CCDS2383.1	2q33	2012-08-10	2007-08-24	2007-08-24	ENSG00000144407	ENSG00000144407		"GPCR / Class B : Parathyroid hormone receptors"	9609	protein-coding gene	gene with protein product		601469	"parathyroid hormone receptor 2"	PTHR2			Standard	NM_005048		Approved		uc002vdb.4	P49190	OTTHUMG00000132960	ENST00000272847.2:c.179-1A>T	2.37:g.209302260A>T						PTH2R_ENST00000413482.1_Splice_Site		NM_005048.2	NP_005039.1	P49190	PTH2R_HUMAN		Epithelial(149;0.0684)|Lung(261;0.0785)|LUSC - Lung squamous cell carcinoma(261;0.0836)	3	391	+								Q8N429	Splice_Site	SNP	ENST00000272847.2	37		CCDS2383.1	.	.	.	.	.	.	.	.	.	.	A	11.15	1.553764	0.27739	.	.	ENSG00000144407	ENST00000272847	.	.	.	5.6	5.6	0.85130	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.0249	0.64580	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PTH2R	209010505	1.000000	0.71417	0.714000	0.30535	0.016000	0.09150	6.392000	0.73213	2.254000	0.74563	0.460000	0.39030	.		0.348	PTH2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256519.2	NM_005048	Intron	4	141	0	0	0	0.150653	0	4	141					T	209302260	A	T	209302260	5	4	28	1	0	0	0	0	0	0	1	0	12760	434	15	5	187	5	PTH2R	2	209302260	Splice_Site	SNP	A	TCGA-CH-5762-01A-11D-1576-08	669664	209302260	33897113	22	1347											
ACCN4	55515	broad.mit.edu	37	chr2	220396490	220396490	+	Missense_Mutation	SNP	G	G	A																															cacctcccaggtctatactcGctatgggaagtgttacacct																										TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr2:220396490G>A	ENST00000347842.3	+	2	988	c.974G>A	c.(973-975)cGc>cAc	p.R325H	ASIC4_ENST00000358078.4_Missense_Mutation_p.R325H|ASIC4_ENST00000473709.1_3'UTR	NM_182847.2	NP_878267.2	Q96FT7	ASIC4_HUMAN	acid-sensing (proton-gated) ion channel family member 4	325					ion transmembrane transport (GO:0034220)|sodium ion transmembrane transport (GO:0035725)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)	ion channel activity (GO:0005216)|sodium channel activity (GO:0005272)|sodium ion transmembrane transporter activity (GO:0015081)										GTCTATACTCGCTATGGGAAG	0.632																																						ENST00000358078.4																			0											c.(973-975)cGc>cAc		acid-sensing (proton-gated) ion channel family member 4							62	65	64					2																	220396490		2203	4300	6503	SO:0001583	missense	55515					integral to plasma membrane	sodium channel activity|sodium ion transmembrane transporter activity	g.chr2:220396490G>A	AJ271643	CCDS2442.1	2q36.1	2012-02-22	2012-02-22	2012-02-22	ENSG00000072182	ENSG00000072182		"Ion channels / Acid-sensing (proton-gated) ion channels"	21263	protein-coding gene	gene with protein product		606715	"amiloride-sensitive cation channel 4, pituitary", "amiloride-sensitive cation channel family member 4, pituitary"	ACCN4		10852210	Standard	NM_182847		Approved	BNAC4	uc002vma.3	Q96FT7	OTTHUMG00000058928	ENST00000347842.3:c.974G>A	2.37:g.220396490G>A	ENSP00000326627:p.Arg325His					ASIC4_ENST00000347842.3_Missense_Mutation_p.R325H|ASIC4_ENST00000473709.1_3'UTR	p.R325H			Q96FT7	ACCN4_HUMAN			2	988	+			325					Q53SB7|Q6GMS1|Q6PIN9|Q9NQA4	Missense_Mutation	SNP	ENST00000347842.3	37	c.974G>A	CCDS2442.1	.	.	.	.	.	.	.	.	.	.	G	25.9	4.688054	0.88639	.	.	ENSG00000072182	ENST00000347842;ENST00000358078	T;T	0.66099	-0.19;-0.19	3.16	3.16	0.36331	.	0.000000	0.85682	D	0.000000	T	0.76378	0.3979	M	0.75615	2.305	0.58432	D	0.999998	D;P;D	0.89917	0.998;0.946;1.0	D;P;D	0.67725	0.928;0.606;0.953	T	0.80084	-0.1530	10	0.54805	T	0.06	-1.1816	15.1743	0.72899	0.0:0.0:1.0:0.0	.	325;325;325	Q96FT7;Q96FT7-4;Q96FT7-2	ACCN4_HUMAN;.;.	H	325	ENSP00000326627:R325H;ENSP00000350786:R325H	ENSP00000326627:R325H	R	+	2	0	ACCN4	220104734	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.551000	0.98112	2.079000	0.62486	0.561000	0.74099	CGC		0.632	ASIC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000130263.1	NM_018674		7	208	0	0	0	0.27861	0	7	208					A	220396490	G	A	220396490	3	1	28	1	0	0	0	0	1	0	0	0	131	1087	38	1	980	1	ACCN4	2	220396490	Missense_Mutation	SNP	G	TCGA-CH-5762-01A-11D-1576-08	11094230	220396490	22802883	23	1348	11	2									
ACCN4	55515	broad.mit.edu	37	chr2	220396491	220396491	+	Silent	SNP	C	C	T																															acctcccaggtctatactcgCtatgggaagtgttacacctt																										TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr2:220396491C>T	ENST00000347842.3	+	2	989	c.975C>T	c.(973-975)cgC>cgT	p.R325R	ASIC4_ENST00000358078.4_Silent_p.R325R|ASIC4_ENST00000473709.1_3'UTR	NM_182847.2	NP_878267.2	Q96FT7	ASIC4_HUMAN	acid-sensing (proton-gated) ion channel family member 4	325					ion transmembrane transport (GO:0034220)|sodium ion transmembrane transport (GO:0035725)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)	ion channel activity (GO:0005216)|sodium channel activity (GO:0005272)|sodium ion transmembrane transporter activity (GO:0015081)										TCTATACTCGCTATGGGAAGT	0.632																																						ENST00000358078.4																			0											c.(973-975)cgC>cgT		acid-sensing (proton-gated) ion channel family member 4							62	66	65					2																	220396491		2203	4300	6503	SO:0001819	synonymous_variant	55515					integral to plasma membrane	sodium channel activity|sodium ion transmembrane transporter activity	g.chr2:220396491C>T	AJ271643	CCDS2442.1	2q36.1	2012-02-22	2012-02-22	2012-02-22	ENSG00000072182	ENSG00000072182		"Ion channels / Acid-sensing (proton-gated) ion channels"	21263	protein-coding gene	gene with protein product		606715	"amiloride-sensitive cation channel 4, pituitary", "amiloride-sensitive cation channel family member 4, pituitary"	ACCN4		10852210	Standard	NM_182847		Approved	BNAC4	uc002vma.3	Q96FT7	OTTHUMG00000058928	ENST00000347842.3:c.975C>T	2.37:g.220396491C>T						ASIC4_ENST00000347842.3_Silent_p.R325R|ASIC4_ENST00000473709.1_3'UTR	p.R325R			Q96FT7	ACCN4_HUMAN			2	989	+			325					Q53SB7|Q6GMS1|Q6PIN9|Q9NQA4	Silent	SNP	ENST00000347842.3	37	c.975C>T	CCDS2442.1																																																																																				0.632	ASIC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000130263.1	NM_018674		7	209	0	0	0	0.27861	0	7	209					T	220396491	C	T	220396491	2	4	28	1	0	0	0	0	0	0	0	1	131	784	28	3		3	ACCN4	2	220396491	Silent	SNP	C	TCGA-CH-5762-01A-11D-1576-08	1	220396491	22802882	24	1349	11	2									
NDUFA10	4705	broad.mit.edu	37	chr2	240960668	240960668	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctgcagcaggcgactgctgtAcaaccaggactgcaggcggt	9	6	14	12	2	0	0	0	0	0	0	0	2	0	1	1	4	6	5	1	4	2	1			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr2:240960668A>G	ENST00000252711.2	-	3	506	c.406T>C	c.(406-408)Tac>Cac	p.Y136H	NDUFA10_ENST00000404554.1_Missense_Mutation_p.Y136H|NDUFA10_ENST00000307300.4_Missense_Mutation_p.Y136H|NDUFA10_ENST00000407129.3_Missense_Mutation_p.Y136H	NM_004544.3	NP_004535.1	O95299	NDUAA_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 10, 42kDa	136					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)	ATP binding (GO:0005524)|NADH dehydrogenase (ubiquinone) activity (GO:0008137)|nucleoside kinase activity (GO:0019206)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)	16		all_epithelial(40;4.26e-15)|Breast(86;4.4e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0396)|Lung NSC(271;0.128)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(121;7.82e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.5e-13)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;2.39e-05)|Lung(119;0.00519)|LUSC - Lung squamous cell carcinoma(224;0.0202)		CGACTGCTGTACAACCAGGAC	0.498											OREG0015348	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000252711.2																			0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)	16						c.(406-408)Tac>Cac		NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 10, 42kDa	NADH(DB00157)						96	85	89					2																	240960668		2203	4300	6503	SO:0001583	missense	4705				mitochondrial electron transport, NADH to ubiquinone|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|transport	mitochondrial matrix|mitochondrial respiratory chain complex I	ATP binding|NADH dehydrogenase (ubiquinone) activity|phosphotransferase activity, alcohol group as acceptor	g.chr2:240960668A>G	AF087661	CCDS2531.1	2q37.3	2011-07-04	2002-08-29		ENSG00000130414	ENSG00000130414		"Mitochondrial respiratory chain complex / Complex I"	7684	protein-coding gene	gene with protein product	"complex I 42kDa subunit"	603835	"NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 10 (42kD)"			9878551	Standard	NM_004544		Approved	CI-42k	uc002vyn.3	O95299	OTTHUMG00000133350	ENST00000252711.2:c.406T>C	2.37:g.240960668A>G	ENSP00000252711:p.Tyr136His		OREG0015348	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	2423	NDUFA10_ENST00000307300.4_Missense_Mutation_p.Y136H|NDUFA10_ENST00000404554.1_Missense_Mutation_p.Y136H|NDUFA10_ENST00000407129.3_Missense_Mutation_p.Y136H	p.Y136H	NM_004544.3	NP_004535.1	O95299	NDUAA_HUMAN		Epithelial(121;7.82e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.5e-13)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;2.39e-05)|Lung(119;0.00519)|LUSC - Lung squamous cell carcinoma(224;0.0202)	3	506	-		all_epithelial(40;4.26e-15)|Breast(86;4.4e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0396)|Lung NSC(271;0.128)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)	136					Q8WXC9	Missense_Mutation	SNP	ENST00000252711.2	37	c.406T>C	CCDS2531.1	.	.	.	.	.	.	.	.	.	.	A	17.50	3.405444	0.62288	.	.	ENSG00000130414	ENST00000252711;ENST00000404554;ENST00000422018;ENST00000443626;ENST00000307300;ENST00000407129	D;D;D;D;D	0.94793	-3.52;-3.52;-3.52;-3.52;-3.52	4.65	4.65	0.58169	.	0.060806	0.64402	D	0.000002	D	0.96713	0.8927	M	0.77103	2.36	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;1.0;1.0	D;D;D;D	0.81914	0.994;0.968;0.99;0.995	D	0.97087	0.9788	10	0.87932	D	0	-23.3071	12.3192	0.54975	1.0:0.0:0.0:0.0	.	136;136;141;136	Q8WXC9;Q8N1B9;Q59FM0;O95299	.;.;.;NDUAA_HUMAN	H	136	ENSP00000252711:Y136H;ENSP00000385697:Y136H;ENSP00000411527:Y136H;ENSP00000302321:Y136H;ENSP00000383975:Y136H	ENSP00000252711:Y136H	Y	-	1	0	NDUFA10	240609341	1.000000	0.71417	0.994000	0.49952	0.225000	0.24961	8.568000	0.90741	1.865000	0.54081	0.460000	0.39030	TAC		0.498	NDUFA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257180.2	NM_004544		3	97	0	0	0	0.115264	0	3	97					G	240960668	A	G	240960668	3	3	28	1	0	0	0	0	1	0	0	0	10260	391	14	4	693	4	NDUFA10	2	240960668	Missense_Mutation	SNP	A	TCGA-CH-5762-01A-11D-1576-08	20564177	240960668	2238705	25	1350											
CCR4	1233	broad.mit.edu	37	chr3	32995672	32995672	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cgtggtggtcctcttccttgGgttctggacaccttacaaca	6	13	10	12	1	2	0	0	0	2	0	4	1	4	1	3	4	2	1	3	4	2	4			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr3:32995672G>T	ENST00000330953.5	+	2	926	c.758G>T	c.(757-759)gGg>gTg	p.G253V		NM_005508.4	NP_005499.1	P51679	CCR4_HUMAN	chemokine (C-C motif) receptor 4	253					chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|immune response (GO:0006955)|inflammatory response (GO:0006954)|neuron migration (GO:0001764)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of positive chemotaxis (GO:0050927)|response to antibiotic (GO:0046677)|response to bacterium (GO:0009617)|response to radiation (GO:0009314)|tolerance induction (GO:0002507)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	C-C chemokine receptor activity (GO:0016493)|chemokine receptor activity (GO:0004950)			NS(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3)|stomach(1)	16						CTCTTCCTTGGGTTCTGGACA	0.468																																						ENST00000330953.5																			0				NS(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3)|stomach(1)	16						c.(757-759)gGg>gTg		chemokine (C-C motif) receptor 4							110	97	102					3																	32995672		2203	4300	6503	SO:0001583	missense	1233				chemotaxis|elevation of cytosolic calcium ion concentration|immune response|inflammatory response	integral to plasma membrane		g.chr3:32995672G>T	X85740	CCDS2656.1	3p24-p21.3	2012-08-08			ENSG00000183813	ENSG00000183813		"GPCR / Class A : Chemokine receptors : C-C motif", "CD molecules"	1605	protein-coding gene	gene with protein product		604836				7642634, 8884276	Standard	NM_005508		Approved	CC-CKR-4, CMKBR4, CKR4, k5-5, ChemR13, CD194	uc003cfg.1	P51679	OTTHUMG00000130752	ENST00000330953.5:c.758G>T	3.37:g.32995672G>T	ENSP00000332659:p.Gly253Val						p.G253V	NM_005508.4	NP_005499.1	P51679	CCR4_HUMAN			2	926	+			253					Q9ULY6|Q9ULY7	Missense_Mutation	SNP	ENST00000330953.5	37	c.758G>T	CCDS2656.1	.	.	.	.	.	.	.	.	.	.	G	12.06	1.823402	0.32237	.	.	ENSG00000183813	ENST00000330953	T	0.30182	1.54	5.93	4.99	0.66335	GPCR, rhodopsin-like superfamily (1);	0.384697	0.22054	N	0.065270	T	0.09730	0.0239	N	0.00392	-1.555	0.22050	N	0.999394	B	0.09022	0.002	B	0.08055	0.003	T	0.16778	-1.0391	10	0.51188	T	0.08	.	11.533	0.50620	0.0:0.0:0.6338:0.3662	.	253	P51679	CCR4_HUMAN	V	253	ENSP00000332659:G253V	ENSP00000332659:G253V	G	+	2	0	CCR4	32970676	0.959000	0.32827	0.575000	0.28536	0.987000	0.75469	3.284000	0.51708	2.815000	0.96918	0.561000	0.74099	GGG		0.468	CCR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253252.2			4	112	1	0	0.00024832	0.150653	0.000270583	4	112					T	32995672	G	T	32995672	3	4	28	1	0	0	0	0	1	0	0	0	2943	1232	43	5	760	5	CCR4	3	32995672	Missense_Mutation	SNP	G	TCGA-CH-5762-01A-11D-1576-08		32995672	165026758	26	1351											
DNAH12	201625	broad.mit.edu	37	chr3	57488129	57488129	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtatcaacagcccagtgtaaCacgtgttcaggaagttctgt	11	11	10	9	1	3	0	2	0	1	0	3	1	3	1	1	1	3	4	1	1	4	4			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr3:57488129C>T	ENST00000351747.2	-	10	1344	c.1164G>A	c.(1162-1164)gtG>gtA	p.V388V	DNAH12_ENST00000389536.4_Silent_p.V388V|DNAH12_ENST00000311202.6_Silent_p.V388V	NM_178504.4	NP_848599.3	Q6ZR08	DYH12_HUMAN	dynein, axonemal, heavy chain 12	388	Stem. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.V388V(2)		breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(4)|lung(7)|pancreas(1)|prostate(1)|skin(1)	25						CCCAGTGTAACACGTGTTCAG	0.388																																						ENST00000351747.2																			2	Substitution - coding silent(2)	p.V388V(2)	prostate(2)	breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(4)|lung(7)|pancreas(1)|prostate(1)|skin(1)	25						c.(1162-1164)gtG>gtA		dynein, axonemal, heavy chain 12							249	218	228					3																	57488129		2203	4300	6503	SO:0001819	synonymous_variant	201625				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr3:57488129C>T	U53532, AK126276	CCDS33771.1	3p21.1	2009-02-04	2006-09-04		ENSG00000174844	ENSG00000174844		"Axonemal dyneins"	2943	protein-coding gene	gene with protein product		603340	"dynein, axonemal, heavy polypeptide 12", "dynein heavy chain domain 2", "dynein heavy domain 2", "dynein, axonemal, heavy chain 12-like", "dynein, axonemal, heavy chain 7-like"	DNHD2, DNAH12L, DNAH7L		8812413, 8666668	Standard	NM_198564		Approved	DLP12, Dnahc3, HL-19, hdhc3, DHC3, FLJ40427, FLJ44290	uc003dit.2	Q6ZR08	OTTHUMG00000158598	ENST00000351747.2:c.1164G>A	3.37:g.57488129C>T						DNAH12_ENST00000311202.6_Silent_p.V388V|DNAH12_ENST00000389536.4_Silent_p.V388V	p.V388V	NM_178504.4	NP_848599.3	Q6ZR08	DYH12_HUMAN			10	1344	-			388			Stem (By similarity).		A6NGI2|Q6ZTR8|Q8N7R9|Q8WXK2|Q92816	Silent	SNP	ENST00000351747.2	37	c.1164G>A																																																																																					0.388	DNAH12-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_178504		48	224	0	0	0	0.864702	0	48	224					T	57488129	C	T	57488129	2	4	28	1	0	0	0	0	0	0	0	1	4600	465	17	3		3	DNAH12	3	57488129	Silent	SNP	C	TCGA-CH-5762-01A-11D-1576-08	24492457	57488129	140534301	27	1352											
UBA5	79876	broad.mit.edu	37	chr3	132394111	132394111	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggtttctgttaaattttggtActgttagtttttaccttgga	7	21	9	4	0	1	0	0	0	1	0	1	1	1	1	1	3	2	5	1	3	5	10			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr3:132394111A>T	ENST00000356232.4	+	9	1904	c.832A>T	c.(832-834)Act>Tct	p.T278S	UBA5_ENST00000494238.2_Missense_Mutation_p.T222S|UBA5_ENST00000264991.4_Missense_Mutation_p.T222S|UBA5_ENST00000473651.1_Missense_Mutation_p.T278S|UBA5_ENST00000493720.2_Missense_Mutation_p.T278S	NM_024818.3	NP_079094.1	Q9GZZ9	UBA5_HUMAN	ubiquitin-like modifier activating enzyme 5	278					protein ufmylation (GO:0071569)|response to endoplasmic reticulum stress (GO:0034976)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|UFM1 activating enzyme activity (GO:0071566)			breast(2)|endometrium(4)|kidney(4)|large_intestine(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16						AAATTTTGGTACTGTTAGTTT	0.294																																						ENST00000356232.4																			0				breast(2)|endometrium(4)|kidney(4)|large_intestine(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16						c.(832-834)Act>Tct		ubiquitin-like modifier activating enzyme 5							69	66	67					3																	132394111		2202	4300	6502	SO:0001583	missense	79876				protein ufmylation	aggresome|cytoplasm|nucleus	ATP binding|cofactor binding|metal ion binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor|protein binding|UFM1 activating enzyme activity	g.chr3:132394111A>T	AY253672	CCDS3076.1, CCDS3077.1	3q22	2007-11-30	2007-11-30	2007-11-30	ENSG00000081307	ENSG00000081307		"Ubiquitin-like modifier activating enzymes"	23230	protein-coding gene	gene with protein product	"UBA5, ubiquitin-activating enzyme E1 homolog (yeast)"	610552	"ubiquitin-activating enzyme E1-domain containing 1"	UBE1DC1		11230166, 15071506	Standard	NM_198329		Approved	FLJ23251	uc003epa.4	Q9GZZ9	OTTHUMG00000159759	ENST00000356232.4:c.832A>T	3.37:g.132394111A>T	ENSP00000348565:p.Thr278Ser					UBA5_ENST00000473651.1_Missense_Mutation_p.T278S|UBA5_ENST00000494238.2_Missense_Mutation_p.T222S|UBA5_ENST00000264991.4_Missense_Mutation_p.T222S|UBA5_ENST00000493720.2_Missense_Mutation_p.T278S	p.T278S	NM_024818.3	NP_079094.1	Q9GZZ9	UBA5_HUMAN			9	1904	+			278					A6NJL3|D3DNC8|Q96ST1	Missense_Mutation	SNP	ENST00000356232.4	37	c.832A>T	CCDS3076.1	.	.	.	.	.	.	.	.	.	.	A	14.09	2.432577	0.43224	.	.	ENSG00000081307	ENST00000264991;ENST00000356232;ENST00000493720;ENST00000473651;ENST00000494238	T;T;T;T;T	0.30182	1.54;1.54;1.54;1.54;1.54	5.78	5.78	0.91487	Molybdenum cofactor biosynthesis, MoeB (1);NAD(P)-binding domain (1);	0.157579	0.56097	D	0.000026	T	0.30039	0.0752	L	0.42686	1.345	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.03017	-1.1082	10	0.49607	T	0.09	-8.7736	16.0928	0.81102	1.0:0.0:0.0:0.0	.	278;278	E7EWE1;Q9GZZ9	.;UBA5_HUMAN	S	222;278;278;278;222	ENSP00000264991:T222S;ENSP00000348565:T278S;ENSP00000417879:T278S;ENSP00000424984:T278S;ENSP00000418807:T222S	ENSP00000264991:T222S	T	+	1	0	UBA5	133876801	1.000000	0.71417	0.973000	0.42090	0.992000	0.81027	7.090000	0.76916	2.192000	0.70111	0.482000	0.46254	ACT		0.294	UBA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357187.2	NM_024818		4	85	0	0	0	0.150653	0	4	85					T	132394111	A	T	132394111	3	4	28	1	0	0	0	0	1	0	0	0	16827	391	14	5	866	5	UBA5	3	132394111	Missense_Mutation	SNP	A	TCGA-CH-5762-01A-11D-1576-08	74905982	132394111	65628319	28	1353											
SLCO2A1	6578	broad.mit.edu	37	chr3	133672578	133672578	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	gcaggtacccgaaagccggtCcaaatacagagatggcaaat	15	5	11	10	2	0	1	0	0	0	1	1	3	1	1	3	3	3	3	3	3	5	2			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr3:133672578C>G	ENST00000310926.4	-	5	926	c.653G>C	c.(652-654)gGa>gCa	p.G218A	SLCO2A1_ENST00000493729.1_Missense_Mutation_p.G142A|SLCO2A1_ENST00000478651.1_5'Flank	NM_005630.2	NP_005621.2	Q92959	SO2A1_HUMAN	solute carrier organic anion transporter family, member 2A1	218					lipid transport (GO:0006869)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	lipid transporter activity (GO:0005319)|prostaglandin transmembrane transporter activity (GO:0015132)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(2)|stomach(2)	30					Alprostadil(DB00770)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Furosemide(DB00695)|Iloprost(DB01088)|Phenobarbital(DB01174)|Pyruvic acid(DB00119)	GAAAGCCGGTCCAAATACAGA	0.517																																						ENST00000310926.4																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(2)|stomach(2)	30						c.(652-654)gGa>gCa		solute carrier organic anion transporter family, member 2A1							89	88	88					3																	133672578		2203	4300	6503	SO:0001583	missense	6578				sodium-independent organic anion transport	integral to plasma membrane|membrane fraction	prostaglandin transmembrane transporter activity|protein binding	g.chr3:133672578C>G		CCDS3084.1	3q21	2013-05-22	2003-11-25	2003-11-26	ENSG00000174640	ENSG00000174640		"Solute carriers"	10955	protein-coding gene	gene with protein product		601460	"solute carrier family 21 (prostaglandin transporter), member 2", "matrin F/G 1"	SLC21A2, MATR1		8787677, 9618293	Standard	NM_005630		Approved	PGT, OATP2A1	uc003eqa.4	Q92959	OTTHUMG00000159745	ENST00000310926.4:c.653G>C	3.37:g.133672578C>G	ENSP00000311291:p.Gly218Ala					SLCO2A1_ENST00000493729.1_Missense_Mutation_p.G142A	p.G218A	NM_005630.2	NP_005621.2	Q92959	SO2A1_HUMAN			5	926	-			218					Q86V98|Q8IUN2	Missense_Mutation	SNP	ENST00000310926.4	37	c.653G>C	CCDS3084.1	.	.	.	.	.	.	.	.	.	.	C	19.59	3.856941	0.71834	.	.	ENSG00000174640	ENST00000310926;ENST00000493729	T;T	0.80909	-1.43;-1.43	5.4	5.4	0.78164	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	D	0.91095	0.7197	M	0.85373	2.75	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.97110	0.987;1.0;0.986	D	0.92105	0.5691	10	0.72032	D	0.01	.	19.1817	0.93627	0.0:1.0:0.0:0.0	.	218;142;218	F8W9W8;E7EU40;Q92959	.;.;SO2A1_HUMAN	A	218;142	ENSP00000311291:G218A;ENSP00000418893:G142A	ENSP00000311291:G218A	G	-	2	0	SLCO2A1	135155268	1.000000	0.71417	0.426000	0.26672	0.996000	0.88848	7.137000	0.77295	2.526000	0.85167	0.561000	0.74099	GGA		0.517	SLCO2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357131.1	NM_005630		3	73	0	0	0	0.115264	0	3	73					G	133672578	C	G	133672578	3	3	28	1	0	0	0	0	1	0	0	0	14726	855	30	5	1318	5	SLCO2A1	3	133672578	Missense_Mutation	SNP	C	TCGA-CH-5762-01A-11D-1576-08	1278467	133672578	64349852	29	1354											
FAM193A	8603	broad.mit.edu	37	chr4	2691264	2691264	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcacctgttcagaatcacaCaaataagcatcaggtattca	16	9	6	10	0	4	1	4	0	0	1	4	1	4	1	1	1	2	4	1	1	4	4			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr4:2691264C>A	ENST00000324666.5	+	12	1841	c.1490C>A	c.(1489-1491)aCa>aAa	p.T497K	FAM193A_ENST00000545951.1_Missense_Mutation_p.T497K|FAM193A_ENST00000505311.1_Missense_Mutation_p.T497K|FAM193A_ENST00000382839.3_Missense_Mutation_p.T497K|FAM193A_ENST00000502458.1_Missense_Mutation_p.T519K	NM_001256666.1	NP_001243595.1	P78312	F193A_HUMAN	family with sequence similarity 193, member A	497										NS(2)|breast(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(12)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	40						CAGAATCACACAAATAAGCAT	0.328																																						ENST00000324666.5																			0				NS(2)|breast(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(12)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	40						c.(1489-1491)aCa>aAa		family with sequence similarity 193, member A							90	85	86					4																	2691264		2203	4300	6503	SO:0001583	missense	8603							g.chr4:2691264C>A	AB000459	CCDS33943.1, CCDS58874.1, CCDS58875.1, CCDS58876.1	4p16.3	2009-09-04	2009-09-04	2009-09-04					16822	protein-coding gene	gene with protein product			"chromosome 4 open reading frame 8"	C4orf8		9734812	Standard	NR_046335		Approved	RES4-22	uc010ick.3	P78312		ENST00000324666.5:c.1490C>A	4.37:g.2691264C>A	ENSP00000324587:p.Thr497Lys					FAM193A_ENST00000545951.1_Missense_Mutation_p.T497K|FAM193A_ENST00000505311.1_Missense_Mutation_p.T497K|FAM193A_ENST00000382839.3_Missense_Mutation_p.T497K|FAM193A_ENST00000502458.1_Missense_Mutation_p.T519K	p.T497K	NM_001256666.1	NP_001243595.1	P78312	F193A_HUMAN			12	1841	+			497					B7ZM85|B9EGR0|E9PFA1|O43607|P78311|P78313|Q9UEG8	Missense_Mutation	SNP	ENST00000324666.5	37	c.1490C>A	CCDS58875.1	.	.	.	.	.	.	.	.	.	.	C	17.92	3.507674	0.64410	.	.	ENSG00000125386	ENST00000382839;ENST00000324666;ENST00000545951;ENST00000502458;ENST00000513350	T;T;T;T;T	0.25749	1.78;1.78;1.78;1.78;1.78	5.38	5.38	0.77491	.	0.247430	0.39210	N	0.001428	T	0.38188	0.1031	L	0.50333	1.59	0.42181	D	0.991689	D;P;D;P;D	0.57257	0.979;0.787;0.979;0.827;0.979	P;B;P;B;P	0.51615	0.675;0.23;0.675;0.346;0.585	T	0.18555	-1.0333	10	0.72032	D	0.01	-17.7477	18.1813	0.89779	0.0:1.0:0.0:0.0	.	497;519;497;519;497	B9EGR0;E9PFA1;P78312;B7ZM85;P78312-2	.;.;F193A_HUMAN;.;.	K	497;497;497;519;351	ENSP00000372290:T497K;ENSP00000324587:T497K;ENSP00000443617:T497K;ENSP00000427505:T519K;ENSP00000427260:T351K	ENSP00000324587:T497K	T	+	2	0	FAM193A	2661062	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.850000	0.69473	2.532000	0.85374	0.558000	0.71614	ACA		0.328	FAM193A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000360903.1	NM_003704		5	151	1	0	0.0215528	0.217242	0.0231656	5	151					A	2691264	C	A	2691264	3	1	28	1	0	0	0	0	1	0	0	0	5524	478	17	5	1528	5	FAM193A	4	2691264	Missense_Mutation	SNP	C	TCGA-CH-5762-01A-11D-1576-08		2691264	188463012	30	1355											
PTPN13	5783	broad.mit.edu	37	chr4	87671632	87671632	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tttccttgtagagagagcttCgtttaggagcctgaatctcc	8	14	10	9	1	1	3	0	1	1	2	4	5	2	4	3	1	2	3	3	1	3	6			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr4:87671632C>T	ENST00000411767.2	+	18	2723	c.2660C>T	c.(2659-2661)tCg>tTg	p.S887L	PTPN13_ENST00000511467.1_Missense_Mutation_p.S887L|PTPN13_ENST00000436978.1_Missense_Mutation_p.S887L|PTPN13_ENST00000316707.6_Intron|PTPN13_ENST00000427191.2_Missense_Mutation_p.S887L			Q12923	PTN13_HUMAN	protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase)	887					peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cell body (GO:0044297)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein tyrosine phosphatase activity (GO:0004725)	p.S887L(2)		NS(4)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(23)|lung(24)|ovary(4)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	93		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00082)		GAGAGAGCTTCGTTTAGGAGC	0.413																																						ENST00000436978.1																			2	Substitution - Missense(2)	p.S887L(2)	large_intestine(2)	NS(4)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(23)|lung(24)|ovary(4)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	93						c.(2659-2661)tCg>tTg		protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase)							152	149	150					4																	87671632		1883	4121	6004	SO:0001583	missense	0					cytoplasm|cytoskeleton|plasma membrane	protein binding|protein tyrosine phosphatase activity	g.chr4:87671632C>T		CCDS47093.1, CCDS47094.1, CCDS47095.1, CCDS47096.1	4q21.3	2011-06-09			ENSG00000163629	ENSG00000163629		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"	9646	protein-coding gene	gene with protein product		600267				8287977	Standard	NM_006264		Approved	PTP1E, PTP-BAS, PTPL1, PTP-BL	uc003hpy.3	Q12923	OTTHUMG00000160968	ENST00000411767.2:c.2660C>T	4.37:g.87671632C>T	ENSP00000407249:p.Ser887Leu					PTPN13_ENST00000316707.6_Intron|PTPN13_ENST00000427191.2_Missense_Mutation_p.S887L|PTPN13_ENST00000411767.2_Missense_Mutation_p.S887L|PTPN13_ENST00000511467.1_Missense_Mutation_p.S887L	p.S887L	NM_080683.2|NM_080685.2	NP_542414.1|NP_542416.1	Q12923	PTN13_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.00082)	18	3140	+		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)	887					B2RTR0|Q15159|Q15263|Q15264|Q15265|Q15674|Q16826|Q8IWH7|Q9NYN9|Q9UDA8	Missense_Mutation	SNP	ENST00000411767.2	37	c.2660C>T	CCDS47094.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.319143	0.81469	.	.	ENSG00000163629	ENST00000427191;ENST00000436978;ENST00000411767;ENST00000511467;ENST00000357349	T;T;T;T	0.54675	0.56;0.62;0.61;0.62	5.9	5.9	0.94986	.	0.000000	0.43110	D	0.000609	T	0.70753	0.3260	M	0.62723	1.935	0.49798	D	0.999821	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.64410	0.925;0.918;0.925	T	0.70182	-0.4942	10	0.59425	D	0.04	.	20.274	0.98482	0.0:1.0:0.0:0.0	.	887;887;887	Q12923-3;Q12923;Q12923-4	.;PTN13_HUMAN;.	L	887;887;887;887;855	ENSP00000408368:S887L;ENSP00000394794:S887L;ENSP00000407249:S887L;ENSP00000426626:S887L	ENSP00000349909:S855L	S	+	2	0	PTPN13	87890656	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.024000	0.70857	2.797000	0.96272	0.650000	0.86243	TCG		0.413	PTPN13-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000363191.1			13	406	0	0	0	0.457914	0	13	406					T	87671632	C	T	87671632	3	4	28	1	0	0	0	0	1	0	0	0	12782	893	31	2	2726	2	PTPN13	4	87671632	Missense_Mutation	SNP	C	TCGA-CH-5762-01A-11D-1576-08	84980368	87671632	103482644	31	1356											
GPRIN3	285513	broad.mit.edu	37	chr4	90170165	90170165	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	agagctccagtgtgtggctcCcactgctgtggcaaatgaca	9	9	12	11	0	0	2	0	1	0	1	2	2	2	2	2	2	2	4	2	2	1	0			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr4:90170165C>T	ENST00000609438.1	-	2	1615	c.1097G>A	c.(1096-1098)gGg>gAg	p.G366E	GPRIN3_ENST00000333209.4_Missense_Mutation_p.G366E	NM_198281.2	NP_938022.2	Q6ZVF9	GRIN3_HUMAN	GPRIN family member 3	366								p.G366E(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|prostate(2)|skin(1)	36		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;5.67e-05)		TGTGTGGCTCCCACTGCTGTG	0.582																																						ENST00000333209.3																			1	Substitution - Missense(1)	p.G366E(1)	prostate(1)	breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|prostate(2)|skin(1)	36						c.(1096-1098)gGg>gAg		GPRIN family member 3							65	60	62					4																	90170165		2203	4300	6503	SO:0001583	missense	285513							g.chr4:90170165C>T	AK124616	CCDS34030.1	4q22.1	2006-08-24				ENSG00000185477			27733	protein-coding gene	gene with protein product		611241				15488195	Standard	NM_198281		Approved	GRIN3, FLJ42625	uc003hsm.1	Q6ZVF9		ENST00000609438.1:c.1097G>A	4.37:g.90170165C>T	ENSP00000476603:p.Gly366Glu						p.G366E	NM_198281.2	NP_938022.2	Q6ZVF9	GRIN3_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;5.67e-05)	2	1615	-		Hepatocellular(203;0.114)	366					Q8IVE4	Missense_Mutation	SNP	ENST00000609438.1	37	c.1097G>A	CCDS34030.1	.	.	.	.	.	.	.	.	.	.	C	15.46	2.839143	0.51057	.	.	ENSG00000185477	ENST00000333209	T	0.12774	2.65	4.99	1.13	0.20643	.	0.753357	0.10915	N	0.620102	T	0.07052	0.0179	N	0.24115	0.695	0.09310	N	1	B	0.32365	0.367	B	0.27262	0.078	T	0.33675	-0.9859	10	0.33141	T	0.24	-2.6278	2.9214	0.05770	0.3994:0.2799:0.2376:0.0831	.	366	Q6ZVF9	GRIN3_HUMAN	E	366	ENSP00000328672:G366E	ENSP00000328672:G366E	G	-	2	0	GPRIN3	90389188	0.000000	0.05858	0.001000	0.08648	0.033000	0.12548	0.432000	0.21461	0.661000	0.30985	0.655000	0.94253	GGG		0.582	GPRIN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363540.2	NM_198281		34	158	0	0	0	0.769981	0	34	158					T	90170165	C	T	90170165	3	4	28	1	0	0	0	0	1	0	0	0	6731	623	22	3	1237	3	GPRIN3	4	90170165	Missense_Mutation	SNP	C	TCGA-CH-5762-01A-11D-1576-08	2498533	90170165	100984111	32	1357											
FAT1	2195	broad.mit.edu	37	chr4	187629931	187629931	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agaagtcacgtgaatgacttTaacagaagagaactggggcg	15	7	13	6	2	1	5	1	2	0	3	1	6	1	5	0	2	2	0	0	2	5	2			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr4:187629931T>C	ENST00000441802.2	-	2	1260	c.1051A>G	c.(1051-1053)Aaa>Gaa	p.K351E		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	351					actin filament organization (GO:0007015)|anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.K351E(3)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						TGAATGACTTTAACAGAAGAG	0.458										HNSCC(5;0.00058)																											Colon(197;1040 2055 4143 4984 49344)	ENST00000441802.2																			3	Substitution - Missense(3)	p.K351E(3)	prostate(3)	NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						c.(1051-1053)Aaa>Gaa		FAT atypical cadherin 1							139	131	134					4																	187629931		1862	4104	5966	SO:0001583	missense	2195				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding	g.chr4:187629931T>C	X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857		"Cadherins / Cadherin-related"	3595	protein-coding gene	gene with protein product	"cadherin-related family member 8"	600976	"FAT tumor suppressor (Drosophila) homolog", "FAT tumor suppressor homolog 1 (Drosophila)"	FAT		8586420	Standard	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.1051A>G	4.37:g.187629931T>C	ENSP00000406229:p.Lys351Glu	HNSCC(5;0.00058)					p.K351E	NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN			2	1260	-			351						Missense_Mutation	SNP	ENST00000441802.2	37	c.1051A>G	CCDS47177.1	.	.	.	.	.	.	.	.	.	.	T	12.76	2.033911	0.35893	.	.	ENSG00000083857	ENST00000441802;ENST00000260147;ENST00000509647	T;T	0.60920	0.15;0.15	5.3	4.12	0.48240	Cadherin (1);	0.000000	0.85682	D	0.000000	T	0.65133	0.2662	M	0.67953	2.075	0.58432	D	0.999996	D	0.69078	0.997	P	0.60173	0.87	T	0.63703	-0.6577	10	0.09084	T	0.74	.	11.3332	0.49487	0.0:0.0713:0.0:0.9287	.	351	Q14517	FAT1_HUMAN	E	351	ENSP00000406229:K351E;ENSP00000423736:K351E	ENSP00000260147:K351E	K	-	1	0	FAT1	187866925	1.000000	0.71417	0.521000	0.27850	0.477000	0.33069	6.137000	0.71710	1.028000	0.39785	0.482000	0.46254	AAA		0.458	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3	NM_005245		44	242	0	0	0	0.847076	0	44	242					C	187629931	T	C	187629931	3	2	28	1	0	0	0	0	1	0	0	0	5689	1763	61	4	12819	4	FAT1	4	187629931	Missense_Mutation	SNP	T	TCGA-CH-5762-01A-11D-1576-08	97459766	187629931	3524345	33	1358											
CCNJL	79616	broad.mit.edu	37	chr5	159680605	159680605	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gcaggctccctgaacggtggGcctgcaaggagtcccgatag	8	6	15	12	2	0	1	0	1	0	0	2	3	2	2	3	4	2	3	3	4	3	1			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr5:159680605G>T	ENST00000393977.3	-	7	1373	c.1088C>A	c.(1087-1089)gCc>gAc	p.A363D	CCNJL_ENST00000377503.2_5'UTR|CCNJL_ENST00000257536.7_Missense_Mutation_p.A315D	NM_024565.5	NP_078841.3	Q8IV13	CCNJL_HUMAN	cyclin J-like	363						nucleus (GO:0005634)		p.A363D(2)		endometrium(2)|kidney(5)|large_intestine(2)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	17	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.116)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TGAACGGTGGGCCTGCAAGGA	0.667																																						ENST00000393977.3																			2	Substitution - Missense(2)	p.A363D(2)	endometrium(1)|kidney(1)	endometrium(2)|kidney(5)|large_intestine(2)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	17						c.(1087-1089)gCc>gAc		cyclin J-like							53	60	57					5																	159680605		2044	4187	6231	SO:0001583	missense	79616					nucleus		g.chr5:159680605G>T	BC013353	CCDS4350.2	5q33.3	2008-10-31			ENSG00000135083	ENSG00000135083			25876	protein-coding gene	gene with protein product						12477932	Standard	XM_005265982		Approved	FLJ14166	uc003lyb.1	Q8IV13	OTTHUMG00000130325	ENST00000393977.3:c.1088C>A	5.37:g.159680605G>T	ENSP00000377547:p.Ala363Asp					CCNJL_ENST00000257536.7_Missense_Mutation_p.A315D|CCNJL_ENST00000377503.2_5'UTR	p.A363D	NM_024565.5	NP_078841.3	Q8IV13	CCNJL_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		7	1373	-	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.116)	363					Q6ZN43|Q9H7W8	Missense_Mutation	SNP	ENST00000393977.3	37	c.1088C>A	CCDS4350.2	.	.	.	.	.	.	.	.	.	.	G	8.828	0.939150	0.18281	.	.	ENSG00000135083	ENST00000393977;ENST00000257536	T;T	0.31769	1.89;1.48	5.0	4.13	0.48395	.	0.792845	0.11837	N	0.524672	T	0.26991	0.0661	L	0.47716	1.5	0.80722	D	1	P;P	0.39216	0.664;0.498	B;B	0.36335	0.157;0.222	T	0.01863	-1.1258	10	0.24483	T	0.36	-12.6043	11.4363	0.50070	0.0854:0.0:0.9146:0.0	.	315;363	B4DZA8;Q8IV13	.;CCNJL_HUMAN	D	363;315	ENSP00000377547:A363D;ENSP00000257536:A315D	ENSP00000257536:A315D	A	-	2	0	CCNJL	159613183	0.995000	0.38212	0.944000	0.38274	0.174000	0.22865	2.476000	0.45171	1.099000	0.41499	0.655000	0.94253	GCC		0.667	CCNJL-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252674.1	NM_024565		8	134	1	0	0.0381472	0.27861	0.0404514	8	134					T	159680605	G	T	159680605	3	4	28	1	0	0	0	0	1	0	0	0	2929	1203	42	5	223	5	CCNJL	5	159680605	Missense_Mutation	SNP	G	TCGA-CH-5762-01A-11D-1576-08		159680605	21234655	34	1359											
HIST1H2BG	8339	broad.mit.edu	37	chr6	26216797	26216799	+	In_Frame_Del	DEL	CTT	CTT	-																															cgcttgcgcttcttgccatcCttcttctgcgccttggtcac																										TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr6:26216797_26216799delCTT	ENST00000244601.3	-	1	73_75	c.73_75delAAG	c.(73-75)aagdel	p.K25del	HIST1H2AE_ENST00000303910.2_5'Flank	NM_003518.3	NP_003509.1	P62807	H2B1C_HUMAN	histone cluster 1, H2bg	25					antibacterial humoral response (GO:0019731)|chromatin organization (GO:0006325)|defense response to Gram-positive bacterium (GO:0050830)|innate immune response in mucosa (GO:0002227)|nucleosome assembly (GO:0006334)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	8		all_hematologic(11;0.196)				TCTTGCCATCCTTCTTCTGCGCC	0.517																																						ENST00000244601.3																			0				endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	8						c.(73-75)del		histone cluster 1, H2bg																																				SO:0001651	inframe_deletion	8339				defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding	g.chr6:26216797_26216799delCTT	M60750	CCDS4594.1	6p21.3	2011-01-27	2006-10-11	2003-02-14	ENSG00000187990	ENSG00000273802		"Histones / Replication-dependent"	4746	protein-coding gene	gene with protein product		602798	"H2B histone family, member A", "histone 1, H2bg"	H2BFA		1916825, 12408966	Standard	NM_003518		Approved	H2B/a, H2B.1A	uc003ngz.2	P62807	OTTHUMG00000014446	ENST00000244601.3:c.73_75delAAG	6.37:g.26216800_26216802delCTT	ENSP00000244601:p.Lys25del						p.K25del	NM_003518.3	NP_003509.1	P62807	H2B1C_HUMAN			1	73_75	-		all_hematologic(11;0.196)	25					P02278|Q3B872|Q4VB69|Q93078|Q93080	In_Frame_Del	DEL	ENST00000244601.3	37	c.73_75delAAG	CCDS4594.1																																																																																				0.517	HIST1H2BG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040109.2	NM_003518		9	352						9	352	---	---	---	---	-	26216799	CTT	-	26216797	7	5	28	1	0	1	0	1	0	0	0	0	7146	680	24	0	309	0	HIST1H2BG	6	26216797	In_Frame_Del	DEL	CTT	TCGA-CH-5762-01A-11D-1576-08		26216797	144898270	35	1360											
GPR111	222611	broad.mit.edu	37	chr6	47650245	47650245	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gccattgtgagaatcagcaaGaacatcgccatcctcacacc	13	7	7	14	1	2	2	2	1	0	2	4	3	3	2	4	0	2	1	4	0	3	1			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr6:47650245G>A	ENST00000296862.1	+	6	1950	c.1950G>A	c.(1948-1950)aaG>aaA	p.K650K	GPR111_ENST00000507065.1_Silent_p.K582K|GPR111_ENST00000398742.2_Silent_p.K582K			Q8IZF7	GP111_HUMAN	G protein-coupled receptor 111	650					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(2)|lung(15)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29						GAATCAGCAAGAACATCGCCA	0.507																																						ENST00000398742.2																			0				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(2)|lung(15)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29						c.(1744-1746)aaG>aaA		G protein-coupled receptor 111							64	67	66					6																	47650245		2146	4279	6425	SO:0001819	synonymous_variant	222611				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr6:47650245G>A	AB065684		6p12.3	2014-08-08			ENSG00000164393	ENSG00000164393		"-", "GPCR / Class B : Orphans"	18991	protein-coding gene	gene with protein product						12435584	Standard	NM_153839		Approved	hGPCR35, PGR20	uc003oyy.3	Q8IZF7	OTTHUMG00000046168	ENST00000296862.1:c.1950G>A	6.37:g.47650245G>A						GPR111_ENST00000296862.1_Silent_p.K650K|GPR111_ENST00000507065.1_Silent_p.K582K	p.K582K			Q8IZF7	GP111_HUMAN			5	1795	+			650					Q2PNZ1|Q86SL6|Q8NGU5|Q8TDT5	Silent	SNP	ENST00000296862.1	37	c.1746G>A																																																																																					0.507	GPR111-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000106423.2	NM_153839		7	104	0	0	0	0.248553	0	7	104					A	47650245	G	A	47650245	2	1	28	1	0	0	0	0	0	0	0	1	6628	933	33	3		3	GPR111	6	47650245	Silent	SNP	G	TCGA-CH-5762-01A-11D-1576-08	21433448	47650245	123464822	36	1361											
DDX43	55510	broad.mit.edu	37	chr6	74107454	74107454	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gaatatacaaagtacaacaaAcaccacaatccaagtaagcc	21	5	4	11	0	0	0	0	0	0	0	1	1	1	0	3	0	5	2	3	0	10	4			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr6:74107454A>C	ENST00000370336.4	+	2	451	c.293A>C	c.(292-294)aAc>aCc	p.N98T	OOEP_ENST00000370363.1_5'Flank|DDX43_ENST00000539829.1_Missense_Mutation_p.N98T	NM_018665.2	NP_061135.2	Q9NXZ2	DDX43_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 43	98	KH. {ECO:0000255|PROSITE- ProRule:PRU00117}.				ATP catabolic process (GO:0006200)	intracellular (GO:0005622)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|RNA binding (GO:0003723)			NS(1)|breast(2)|central_nervous_system(1)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	24						AGTACAACAAACACCACAATC	0.333																																						ENST00000370336.4																			0				NS(1)|breast(2)|central_nervous_system(1)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	24						c.(292-294)aAc>aCc		DEAD (Asp-Glu-Ala-Asp) box polypeptide 43							125	113	117					6																	74107454		2203	4300	6503	SO:0001583	missense	55510					intracellular	ATP binding|ATP-dependent RNA helicase activity|RNA binding	g.chr6:74107454A>C		CCDS4977.1	6q13	2014-01-21			ENSG00000080007	ENSG00000080007		"DEAD-boxes"	18677	protein-coding gene	gene with protein product	"cancer/testis antigen 13"	606286				10919659	Standard	NM_018665		Approved	HAGE, DKFZp434H2114, CT13	uc003pgw.3	Q9NXZ2	OTTHUMG00000015033	ENST00000370336.4:c.293A>C	6.37:g.74107454A>C	ENSP00000359361:p.Asn98Thr					DDX43_ENST00000539829.1_Missense_Mutation_p.N98T	p.N98T	NM_018665.2	NP_061135.2	Q9NXZ2	DDX43_HUMAN			2	451	+			98			KH.		B4E0C8|Q6NXR1	Missense_Mutation	SNP	ENST00000370336.4	37	c.293A>C	CCDS4977.1	.	.	.	.	.	.	.	.	.	.	A	13.45	2.240169	0.39598	.	.	ENSG00000080007	ENST00000370336;ENST00000539829	T;T	0.32272	1.46;1.46	4.81	2.05	0.26809	K Homology (1);K Homology, type 1, subgroup (1);K Homology, type 1 (1);	0.246510	0.39759	N	0.001271	T	0.21307	0.0513	M	0.79475	2.455	0.28948	N	0.890561	P	0.38473	0.633	P	0.46585	0.521	T	0.12889	-1.0530	10	0.49607	T	0.09	-19.9178	3.1969	0.06636	0.6039:0.2407:0.1554:0.0	.	98	Q9NXZ2	DDX43_HUMAN	T	98	ENSP00000359361:N98T;ENSP00000441636:N98T	ENSP00000359361:N98T	N	+	2	0	DDX43	74164175	1.000000	0.71417	0.985000	0.45067	0.494000	0.33585	1.272000	0.33109	0.757000	0.33036	0.383000	0.25322	AAC		0.333	DDX43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041219.3	NM_018665		3	112	0	0	0	0.150653	0	3	112					C	74107454	A	C	74107454	3	2	28	1	0	0	0	0	1	0	0	0	4363	43	2	5	299	5	DDX43	6	74107454	Missense_Mutation	SNP	A	TCGA-CH-5762-01A-11D-1576-08	26457209	74107454	97007613	37	1362											
CYB5R4	51167	broad.mit.edu	37	chr6	84649905	84649905	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aaaatactgaattatgctttGactgatatacccagtctcag	14	13	6	8	0	1	3	1	3	1	0	2	3	1	3	1	0	3	1	1	0	7	5			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr6:84649905G>C	ENST00000369681.5	+	13	1379	c.1239G>C	c.(1237-1239)ttG>ttC	p.L413F	CYB5R4_ENST00000479164.1_3'UTR	NM_016230.3	NP_057314.2	Q7L1T6	NB5R4_HUMAN	cytochrome b5 reductase 4	413					cell development (GO:0048468)|detection of oxygen (GO:0003032)|generation of precursor metabolites and energy (GO:0006091)|glucose homeostasis (GO:0042593)|insulin secretion (GO:0030073)|NADP metabolic process (GO:0006739)|oxidation-reduction process (GO:0055114)|response to antibiotic (GO:0046677)|superoxide metabolic process (GO:0006801)	endoplasmic reticulum (GO:0005783)|perinuclear region of cytoplasm (GO:0048471)	cytochrome-b5 reductase activity, acting on NAD(P)H (GO:0004128)|flavin adenine dinucleotide binding (GO:0050660)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|NAD(P)H oxidase activity (GO:0016174)|NADPH-hemoprotein reductase activity (GO:0003958)|oxidoreductase activity, acting on NAD(P)H, heme protein as acceptor (GO:0016653)	p.L413F(1)		breast(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	23		all_cancers(76;7e-07)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00128)		BRCA - Breast invasive adenocarcinoma(397;0.0871)		ATTATGCTTTGACTGATATAC	0.333																																					Esophageal Squamous(86;1289 1332 25971 40349 52675)	ENST00000369681.4																			1	Substitution - Missense(1)	p.L413F(1)	prostate(1)	breast(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	23						c.(1237-1239)ttG>ttC		cytochrome b5 reductase 4							76	78	77					6																	84649905		2203	4300	6503	SO:0001583	missense	51167				cell development|detection of oxygen|generation of precursor metabolites and energy|glucose homeostasis|insulin secretion|response to antibiotic|superoxide metabolic process	endoplasmic reticulum|perinuclear region of cytoplasm	cytochrome-b5 reductase activity|heme binding|NAD(P)H oxidase activity	g.chr6:84649905G>C	AF169803	CCDS5000.2	6q14.2	2012-09-19		2005-07-13	ENSG00000065615	ENSG00000065615	1.6.2.2		20147	protein-coding gene	gene with protein product		608343	"NADPH cytochrome B5 oxidoreductase"	NCB5OR		10611283	Standard	NM_016230		Approved	b5+b5R, dJ676J13.1	uc003pkf.3	Q7L1T6	OTTHUMG00000015118	ENST00000369681.5:c.1239G>C	6.37:g.84649905G>C	ENSP00000358695:p.Leu413Phe					CYB5R4_ENST00000479164.1_3'UTR	p.L413F	NM_016230.3	NP_057314.2	Q7L1T6	NB5R4_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.0871)	13	1379	+		all_cancers(76;7e-07)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00128)	413					B1AEM2|Q5TGI9|Q9NUE4|Q9UHI9	Missense_Mutation	SNP	ENST00000369681.5	37	c.1239G>C	CCDS5000.2	.	.	.	.	.	.	.	.	.	.	G	15.48	2.847307	0.51164	.	.	ENSG00000065615	ENST00000369681	D	0.87809	-2.3	5.93	2.19	0.27852	Oxidoreductase FAD/NAD(P)-binding (1);	0.131990	0.50627	D	0.000110	D	0.88621	0.6486	M	0.70787	2.145	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.87212	0.2248	10	0.54805	T	0.06	-19.672	9.2417	0.37500	0.3418:0.0:0.6582:0.0	.	413	Q7L1T6	NB5R4_HUMAN	F	413	ENSP00000358695:L413F	ENSP00000358695:L413F	L	+	3	2	CYB5R4	84706624	1.000000	0.71417	0.767000	0.31495	0.636000	0.38137	2.020000	0.41010	0.116000	0.18110	0.655000	0.94253	TTG		0.333	CYB5R4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041362.4	NM_016230		31	166	0	0	0	0.769981	0	31	166					C	84649905	G	C	84649905	3	2	28	1	0	0	0	0	1	0	0	0	4129	1281	45	5	1289	5	CYB5R4	6	84649905	Missense_Mutation	SNP	G	TCGA-CH-5762-01A-11D-1576-08	10542451	84649905	86465162	38	1363											
PLEKHA8	84725	broad.mit.edu	37	chr7	30102304	30102304	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttagaggtctcaaatttttgAagggatttttgacagaagtg	12	15	11	3	0	1	4	1	2	1	2	2	5	1	5	0	2	0	0	0	2	4	5			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr7:30102304A>C	ENST00000449726.1	+	12	1596	c.1246A>C	c.(1246-1248)Aag>Cag	p.K416Q	PLEKHA8_ENST00000396257.2_Missense_Mutation_p.K416Q|PLEKHA8_ENST00000258679.7_Missense_Mutation_p.K416Q|PLEKHA8_ENST00000396259.1_Missense_Mutation_p.K416Q	NM_001197027.1	NP_001183956.1	Q96JA3	PKHA8_HUMAN	pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 8	416	Glycolipid transfer protein homology domain.				ER to Golgi ceramide transport (GO:0035621)|lipid transport (GO:0006869)|protein transport (GO:0015031)	membrane (GO:0016020)|trans-Golgi network (GO:0005802)	ceramide binding (GO:0097001)|glycolipid binding (GO:0051861)|glycolipid transporter activity (GO:0017089)|phosphatidylinositol-4-phosphate binding (GO:0070273)	p.K416Q(2)		breast(4)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)	17						CAAATTTTTGAAGGGATTTTT	0.343																																						ENST00000449726.1																			2	Substitution - Missense(2)	p.K416Q(2)	prostate(2)	breast(4)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)	17						c.(1246-1248)Aag>Cag		pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 8							70	73	72					7																	30102304		2203	4300	6503	SO:0001583	missense	84725				protein transport	cytoplasm	glycolipid binding|glycolipid transporter activity	g.chr7:30102304A>C	BC053990	CCDS5424.1, CCDS56473.1, CCDS75574.1	7p21-p11.2	2013-01-10			ENSG00000106086	ENSG00000106086		"Pleckstrin homology (PH) domain containing"	30037	protein-coding gene	gene with protein product		608639				11001876	Standard	NM_001197027		Approved	FAPP2, MGC3358	uc003taq.3	Q96JA3	OTTHUMG00000097751	ENST00000449726.1:c.1246A>C	7.37:g.30102304A>C	ENSP00000397947:p.Lys416Gln					PLEKHA8_ENST00000396257.2_Missense_Mutation_p.K416Q|PLEKHA8_ENST00000396259.1_Missense_Mutation_p.K416Q|PLEKHA8_ENST00000258679.7_Missense_Mutation_p.K416Q	p.K416Q	NM_001197027.1	NP_001183956.1	Q96JA3	PKHA8_HUMAN			12	1596	+			416					B4DH00|Q7Z5V8|Q9BU78|Q9H274|Q9H8Z7	Missense_Mutation	SNP	ENST00000449726.1	37	c.1246A>C	CCDS56473.1	.	.	.	.	.	.	.	.	.	.	A	15.19	2.760970	0.49468	.	.	ENSG00000106086	ENST00000258679;ENST00000449726;ENST00000396257;ENST00000396259;ENST00000440706	.	.	.	5.15	5.15	0.70609	Glycolipid transfer protein domain (3);	0.222920	0.44902	D	0.000419	T	0.47838	0.1467	N	0.11154	0.105	0.45747	D	0.99864	D;D;D;D	0.76494	0.958;0.984;0.999;0.987	P;P;D;P	0.80764	0.663;0.773;0.994;0.856	T	0.42916	-0.9423	9	0.13853	T	0.58	-16.9095	9.2608	0.37612	0.8389:0.0:0.0:0.1611	.	416;416;416;416	Q96JA3-2;Q96JA3;Q96JA3-3;B4DH00	.;PKHA8_HUMAN;.;.	Q	416;416;416;416;442	.	ENSP00000258679:K416Q	K	+	1	0	PLEKHA8	30068829	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.405000	0.66351	1.941000	0.56285	0.533000	0.62120	AAG		0.343	PLEKHA8-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_032639		17	139	0	0	0	0.539581	0	17	139					C	30102304	A	C	30102304	3	2	28	1	0	0	0	0	1	0	0	0	12062	247	9	5	1292	5	PLEKHA8	7	30102304	Missense_Mutation	SNP	A	TCGA-CH-5762-01A-11D-1576-08		30102304	129036359	39	1364											
PDE1C	5137	broad.mit.edu	37	chr7	31862740	31862740	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgatgtgcaccacttccgtcCaagtagctttaaagctctta	10	13	7	11	1	1	1	0	1	1	0	3	1	3	1	3	0	3	4	3	0	5	5			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr7:31862740C>G	ENST00000396191.1	-	14	1984	c.1529G>C	c.(1528-1530)tGg>tCg	p.W510S	PDE1C_ENST00000479980.1_5'Flank|PDE1C_ENST00000396182.2_Missense_Mutation_p.W510S|PDE1C_ENST00000396193.1_Missense_Mutation_p.W570S|PDE1C_ENST00000396184.3_Missense_Mutation_p.W510S|PDE1C_ENST00000321453.7_Missense_Mutation_p.W510S	NM_001191057.1	NP_001177986.1	Q14123	PDE1C_HUMAN	phosphodiesterase 1C, calmodulin-dependent 70kDa	510	Catalytic. {ECO:0000250}.				activation of phospholipase C activity (GO:0007202)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|metabolic process (GO:0008152)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)	cytosol (GO:0005829)	calmodulin-dependent cyclic-nucleotide phosphodiesterase activity (GO:0004117)|metal ion binding (GO:0046872)	p.W510S(2)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	81			GBM - Glioblastoma multiforme(11;0.216)		Caffeine(DB00201)	CACTTCCGTCCAAGTAGCTTT	0.488																																						ENST00000396184.3																			2	Substitution - Missense(2)	p.W510S(2)	prostate(2)	NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	81						c.(1528-1530)tGg>tCg		phosphodiesterase 1C, calmodulin-dependent 70kDa							183	158	167					7																	31862740		2203	4300	6503	SO:0001583	missense	5137				activation of phospholipase C activity|nerve growth factor receptor signaling pathway	cytosol	calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding	g.chr7:31862740C>G	U40371	CCDS5437.1, CCDS55099.1, CCDS55100.1	7p15.1-p14.3	2008-05-15	2002-08-29		ENSG00000154678	ENSG00000154678	3.1.4.17	"Phosphodiesterases"	8776	protein-coding gene	gene with protein product		602987	"phosphodiesterase 1C, calmodulin-dependent (70kD)"			8557689	Standard	XM_005249769		Approved	Hcam3	uc003tco.2	Q14123	OTTHUMG00000023836	ENST00000396191.1:c.1529G>C	7.37:g.31862740C>G	ENSP00000379494:p.Trp510Ser					PDE1C_ENST00000321453.7_Missense_Mutation_p.W510S|PDE1C_ENST00000396182.2_Missense_Mutation_p.W510S|PDE1C_ENST00000396193.1_Missense_Mutation_p.W570S|PDE1C_ENST00000396191.1_Missense_Mutation_p.W510S	p.W510S	NM_005020.2	NP_005011.1	Q14123	PDE1C_HUMAN	GBM - Glioblastoma multiforme(11;0.216)		15	1733	-			510			Catalytic (By similarity).		B3KPC6|E9PE92|Q14124|Q8NB10	Missense_Mutation	SNP	ENST00000396191.1	37	c.1529G>C	CCDS55099.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.102338	0.76983	.	.	ENSG00000154678	ENST00000396193;ENST00000396191;ENST00000321453;ENST00000396184;ENST00000396182	T;T;T;T;T	0.77750	-1.12;-1.09;-1.09;-1.0;-1.0	5.79	5.79	0.91817	.	0.510893	0.23033	N	0.052703	D	0.83995	0.5375	L	0.32530	0.975	0.80722	D	1	D;D;D	0.89917	0.996;0.992;1.0	D;P;D	0.87578	0.949;0.889;0.998	D	0.84741	0.0751	10	0.66056	D	0.02	.	19.6158	0.95633	0.0:1.0:0.0:0.0	.	510;570;510	Q14123-2;E9PE92;Q14123	.;.;PDE1C_HUMAN	S	570;510;510;510;510	ENSP00000379496:W570S;ENSP00000379494:W510S;ENSP00000318105:W510S;ENSP00000379487:W510S;ENSP00000379485:W510S	ENSP00000318105:W510S	W	-	2	0	PDE1C	31829265	1.000000	0.71417	1.000000	0.80357	0.615000	0.37417	7.169000	0.77578	2.739000	0.93911	0.563000	0.77884	TGG		0.488	PDE1C-006	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000328458.1			31	286	0	0	0	0.788014	0	31	286					G	31862740	C	G	31862740	3	3	28	1	0	0	0	0	1	0	0	0	11635	595	21	5	391	5	PDE1C	7	31862740	Missense_Mutation	SNP	C	TCGA-CH-5762-01A-11D-1576-08	1760436	31862740	127275923	40	1365											
STK17A	9263	broad.mit.edu	37	chr7	43659292	43659292	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaagaacagtgaagagctcCgagaaattatgggtacccct	14	8	11	8	1	0	5	0	2	0	3	1	6	1	5	3	1	3	2	3	1	6	2	rs149915695		TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr7:43659292C>T	ENST00000319357.5	+	4	840	c.661C>T	c.(661-663)Cga>Tga	p.R221*	STK17A_ENST00000462448.1_3'UTR	NM_004760.2	NP_004751.2	Q9UEE5	ST17A_HUMAN	serine/threonine kinase 17a	221	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|intracellular signal transduction (GO:0035556)|positive regulation of apoptotic process (GO:0043065)|positive regulation of fibroblast apoptotic process (GO:2000271)|protein phosphorylation (GO:0006468)|regulation of reactive oxygen species metabolic process (GO:2000377)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.R221*(2)		autonomic_ganglia(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|prostate(1)|skin(2)	11						TGAAGAGCTCCGAGAAATTAT	0.403																																						ENST00000319357.5																			2	Substitution - Nonsense(2)	p.R221*(2)	prostate(2)	autonomic_ganglia(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|prostate(1)|skin(2)	11						c.(661-663)Cga>Tga		serine/threonine kinase 17a		C	stop/ARG	0,4406		0,0,2203	156	154	155		661	0.4	1	7	dbSNP_134	155	2,8598	2.2+/-6.3	0,2,4298	no	stop-gained	STK17A	NM_004760.2		0,2,6501	TT,TC,CC		0.0233,0.0,0.0154		221/415	43659292	2,13004	2203	4300	6503	SO:0001587	stop_gained	9263				apoptosis|induction of apoptosis|intracellular protein kinase cascade	nucleus	ATP binding|protein serine/threonine kinase activity	g.chr7:43659292C>T	AB011420	CCDS5470.1	7p13	2008-05-15	2007-02-12		ENSG00000164543	ENSG00000164543			11395	protein-coding gene	gene with protein product	"death-associated protein kinase-related 1"	604726	"serine/threonine kinase 17a (apoptosis-inducing)"			9786912	Standard	NM_004760		Approved	DRAK1	uc003tih.3	Q9UEE5	OTTHUMG00000022825	ENST00000319357.5:c.661C>T	7.37:g.43659292C>T	ENSP00000319192:p.Arg221*					STK17A_ENST00000462448.1_3'UTR	p.R221*	NM_004760.2	NP_004751.2	Q9UEE5	ST17A_HUMAN			4	840	+			221			Protein kinase.		A4D1V6|Q8IVC8	Nonsense_Mutation	SNP	ENST00000319357.5	37	c.661C>T	CCDS5470.1	.	.	.	.	.	.	.	.	.	.	C	28.8	4.948990	0.92660	0.0	2.33E-4	ENSG00000164543	ENST00000319357	.	.	.	5.16	0.375	0.16188	.	0.000000	0.41194	D	0.000928	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.07482	T	0.82	.	9.6466	0.39872	0.4536:0.4633:0.0:0.0832	.	.	.	.	X	221	.	ENSP00000319192:R221X	R	+	1	2	STK17A	43625817	0.895000	0.30542	0.983000	0.44433	0.998000	0.95712	1.432000	0.34936	0.124000	0.18369	0.563000	0.77884	CGA		0.403	STK17A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250902.1	NM_004760		48	388	0	0	0	0.870114	0	48	388					T	43659292	C	T	43659292	4	4	28	1	0	0	0	0	0	1	0	0	15289	644	23	2	675	2	STK17A	7	43659292	Nonsense_Mutation	SNP	C	TCGA-CH-5762-01A-11D-1576-08	11796552	43659292	115479371	41	1366											
SEPT14	346288	broad.mit.edu	37	chr7	55874871	55874871	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttcatagtgctgagtgtgggTtttttcttttagattttcca	6	21	9	5	0	2	2	1	1	1	1	3	2	3	2	1	1	1	2	1	1	2	9			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr7:55874871T>C	ENST00000388975.3	-	8	1014	c.898A>G	c.(898-900)Acc>Gcc	p.T300A		NM_207366.2	NP_997249.2	Q6ZU15	SEP14_HUMAN	septin 14	300	Septin-type G.				cell cycle (GO:0007049)|cell division (GO:0051301)	septin complex (GO:0031105)	GTP binding (GO:0005525)			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(15)|skin(2)	23	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			TGAGTGTGGGTTTTTTCTTTT	0.353																																						ENST00000388975.3																			0				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(15)|skin(2)	23						c.(898-900)Acc>Gcc		septin 14							111	105	107					7																	55874871		2203	4300	6503	SO:0001583	missense	346288				cell cycle|cell division	septin complex	GTP binding|protein binding	g.chr7:55874871T>C	AK126048	CCDS5519.2	7p11.2	2013-01-21			ENSG00000154997	ENSG00000154997		"Septins"	33280	protein-coding gene	gene with protein product		612140					Standard	NM_207366		Approved	FLJ44060	uc003tqz.2	Q6ZU15	OTTHUMG00000129341	ENST00000388975.3:c.898A>G	7.37:g.55874871T>C	ENSP00000373627:p.Thr300Ala						p.T300A	NM_207366.2	NP_997249.2	Q6ZU15	SEP14_HUMAN	Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)		8	1014	-	Breast(14;0.214)		300					A6NCC2|B4DXD6	Missense_Mutation	SNP	ENST00000388975.3	37	c.898A>G	CCDS5519.2	.	.	.	.	.	.	.	.	.	.	T	17.69	3.451791	0.63290	.	.	ENSG00000154997	ENST00000388975	T	0.64618	-0.11	3.24	3.24	0.37175	.	0.000000	0.64402	D	0.000001	D	0.85656	0.5747	H	0.98883	4.36	0.44289	D	0.997152	D	0.89917	1.0	D	0.91635	0.999	D	0.88879	0.3338	10	0.87932	D	0	.	10.1685	0.42895	0.0:0.0:0.0:1.0	.	300	Q6ZU15	SEP14_HUMAN	A	300	ENSP00000373627:T300A	ENSP00000373627:T300A	T	-	1	0	SEPT14	55842365	1.000000	0.71417	0.033000	0.17914	0.858000	0.48976	6.131000	0.71670	1.720000	0.51447	0.455000	0.32223	ACC		0.353	SEPT14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251489.2	NM_207366		5	194	0	0	0	0.217242	0	5	194					C	55874871	T	C	55874871	3	2	28	1	0	0	0	0	1	0	0	0	14063	1725	60	4	412	4	SEPT14	7	55874871	Missense_Mutation	SNP	T	TCGA-CH-5762-01A-11D-1576-08	12215579	55874871	103263792	42	1367											
SEMA3C	10512	broad.mit.edu	37	chr7	80432076	80432076	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tccacttgttgacaaggctaCgcagtccaccagtgtcattc	9	11	8	13	1	1	1	1	1	0	0	4	1	3	1	3	1	1	3	3	1	2	4			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr7:80432076C>G	ENST00000265361.3	-	9	1382	c.821G>C	c.(820-822)cGt>cCt	p.R274P	SEMA3C_ENST00000419255.2_Missense_Mutation_p.R274P|SEMA3C_ENST00000536800.1_Missense_Mutation_p.R126P|SEMA3C_ENST00000544525.1_Missense_Mutation_p.R292P	NM_006379.3	NP_006370.1	Q99985	SEM3C_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3C	274	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|blood vessel remodeling (GO:0001974)|cardiac right ventricle morphogenesis (GO:0003215)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|immune response (GO:0006955)|limb bud formation (GO:0060174)|neural crest cell migration (GO:0001755)|neural tube development (GO:0021915)|outflow tract morphogenesis (GO:0003151)|post-embryonic development (GO:0009791)|pulmonary myocardium development (GO:0003350)|response to drug (GO:0042493)|somitogenesis (GO:0001756)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	receptor activity (GO:0004872)			NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						GACAAGGCTACGCAGTCCACC	0.398																																						ENST00000265361.3																			0				NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						c.(820-822)cGt>cCt		sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3C							109	100	103					7																	80432076		2203	4300	6503	SO:0001583	missense	10512				immune response|response to drug	membrane	receptor activity	g.chr7:80432076C>G	AB000220	CCDS5596.1	7q21-q31	2013-01-11			ENSG00000075223	ENSG00000075223		"Semaphorins", "Immunoglobulin superfamily / I-set domain containing"	10725	protein-coding gene	gene with protein product		602645		SEMAE		7748561, 9168980	Standard	NM_006379		Approved	SemE	uc003uhj.3	Q99985	OTTHUMG00000023447	ENST00000265361.3:c.821G>C	7.37:g.80432076C>G	ENSP00000265361:p.Arg274Pro					SEMA3C_ENST00000419255.2_Missense_Mutation_p.R274P|SEMA3C_ENST00000544525.1_Missense_Mutation_p.R292P|SEMA3C_ENST00000536800.1_Missense_Mutation_p.R126P	p.R274P	NM_006379.3	NP_006370.1	Q99985	SEM3C_HUMAN			9	1382	-			274			Sema.		B4DRL8	Missense_Mutation	SNP	ENST00000265361.3	37	c.821G>C	CCDS5596.1	.	.	.	.	.	.	.	.	.	.	C	31	5.060129	0.93846	.	.	ENSG00000075223	ENST00000265361;ENST00000419255;ENST00000544525;ENST00000536800	T;T;T;T	0.12361	2.69;2.69;2.69;2.69	5.73	5.73	0.89815	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.000000	0.85682	D	0.000000	T	0.50582	0.1624	M	0.92784	3.345	0.80722	D	1	D;D;D	0.89917	1.0;0.997;0.998	D;D;D	0.91635	0.999;0.95;0.97	T	0.61461	-0.7058	10	0.87932	D	0	.	19.8856	0.96911	0.0:1.0:0.0:0.0	.	126;292;274	B4DRL8;F5H1Z7;Q99985	.;.;SEM3C_HUMAN	P	274;274;292;126	ENSP00000265361:R274P;ENSP00000411193:R274P;ENSP00000445649:R292P;ENSP00000438258:R126P	ENSP00000265361:R274P	R	-	2	0	SEMA3C	80270012	1.000000	0.71417	0.950000	0.38849	0.984000	0.73092	6.055000	0.71103	2.697000	0.92050	0.585000	0.79938	CGT		0.398	SEMA3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253279.1	NM_006379		6	151	0	0	0	0.217242	0	6	151					G	80432076	C	G	80432076	3	3	28	1	0	0	0	0	1	0	0	0	14026	536	19	5	1474	5	SEMA3C	7	80432076	Missense_Mutation	SNP	C	TCGA-CH-5762-01A-11D-1576-08	24557205	80432076	78706587	43	1368											
KIAA1324L	222223	broad.mit.edu	37	chr7	86539226	86539226	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ttgactggcatacaaatgccCctaccaaatttgtgtaatca	13	12	6	10	0	1	1	1	1	0	0	1	1	1	1	3	1	3	2	3	1	5	5	rs139786503	byFrequency	TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr7:86539226C>T	ENST00000450689.2	-	16	2446	c.2261G>A	c.(2260-2262)gGg>gAg	p.G754E	KIAA1324L_ENST00000416314.1_Missense_Mutation_p.G587E|KIAA1324L_ENST00000297222.6_Missense_Mutation_p.G514E|KIAA1324L_ENST00000444627.1_Missense_Mutation_p.G683E	NM_001142749.2	NP_001136221.1	A8MWY0	K132L_HUMAN	KIAA1324-like	754						integral component of membrane (GO:0016021)		p.G514E(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(14)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44	Esophageal squamous(14;0.0058)					TACAAATGCCCCTACCAAATT	0.398																																						ENST00000450689.2																			1	Substitution - Missense(1)	p.G514E(1)	prostate(1)	breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(14)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44						c.(2260-2262)gGg>gAg		KIAA1324-like							116	115	115					7																	86539226		2203	4300	6503	SO:0001583	missense	222223					integral to membrane		g.chr7:86539226C>T	AK055902	CCDS34677.1, CCDS47632.1, CCDS34677.2	7q21.12	2008-09-18			ENSG00000164659	ENSG00000164659			21945	protein-coding gene	gene with protein product	"EIG121-like"	614048					Standard	NM_001142749		Approved	FLJ31340, EIG121L	uc011kha.2	A8MWY0	OTTHUMG00000153995	ENST00000450689.2:c.2261G>A	7.37:g.86539226C>T	ENSP00000413445:p.Gly754Glu					KIAA1324L_ENST00000297222.6_Missense_Mutation_p.G514E|KIAA1324L_ENST00000416314.1_Missense_Mutation_p.G587E|KIAA1324L_ENST00000444627.1_Missense_Mutation_p.G683E	p.G754E	NM_001142749.2	NP_001136221.1	A8MWY0	K132L_HUMAN			16	2446	-	Esophageal squamous(14;0.0058)		754					A4D1C9|B4DJV3|Q17RI6|Q96DP2	Missense_Mutation	SNP	ENST00000450689.2	37	c.2261G>A	CCDS47632.1	.	.	.	.	.	.	.	.	.	.	C	9.362	1.068308	0.20067	.	.	ENSG00000164659	ENST00000450689;ENST00000297222;ENST00000444627;ENST00000416314	T;T;T;T	0.04275	3.66;3.66;3.66;3.66	5.87	5.87	0.94306	Mannose-6-phosphate receptor, binding (1);	0.152626	0.64402	D	0.000009	T	0.03520	0.0101	N	0.13043	0.29	0.50467	D	0.999871	B;B;B	0.13594	0.008;0.002;0.002	B;B;B	0.11329	0.006;0.003;0.002	T	0.54009	-0.8357	10	0.19147	T	0.46	.	12.5072	0.55987	0.0:0.9245:0.0:0.0755	.	754;514;587	A8MWY0;A8MWY0-2;B4DJV3	K132L_HUMAN;.;.	E	754;514;683;587	ENSP00000413445:G754E;ENSP00000297222:G514E;ENSP00000397377:G683E;ENSP00000402390:G587E	ENSP00000297222:G514E	G	-	2	0	KIAA1324L	86377162	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	3.667000	0.54547	2.785000	0.95823	0.655000	0.94253	GGG		0.398	KIAA1324L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333372.3	NM_152748		21	121	0	0	0	0.575678	0	21	121					T	86539226	C	T	86539226	3	4	28	1	0	0	0	0	1	0	0	0	8224	623	22	3	856	3	KIAA1324L	7	86539226	Missense_Mutation	SNP	C	TCGA-CH-5762-01A-11D-1576-08	6107150	86539226	72599437	44	1369											
KIAA1324L	222223	broad.mit.edu	37	chr7	86541390	86541390	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttgacagccagaactcacctCatgcccacataaactgatat	14	9	5	13	0	2	3	2	2	0	1	2	3	2	3	3	0	4	0	3	0	4	3			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr7:86541390C>T	ENST00000450689.2	-	15	2352	c.2167G>A	c.(2167-2169)Gag>Aag	p.E723K	KIAA1324L_ENST00000490995.1_5'Flank|KIAA1324L_ENST00000416314.1_Missense_Mutation_p.E556K|KIAA1324L_ENST00000297222.6_Missense_Mutation_p.E483K|KIAA1324L_ENST00000444627.1_Missense_Mutation_p.E652K	NM_001142749.2	NP_001136221.1	A8MWY0	K132L_HUMAN	KIAA1324-like	723						integral component of membrane (GO:0016021)				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(14)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44	Esophageal squamous(14;0.0058)					GAACTCACCTCATGCCCACAT	0.413																																						ENST00000450689.2																			0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(14)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44						c.(2167-2169)Gag>Aag		KIAA1324-like							124	116	118					7																	86541390		2203	4300	6503	SO:0001583	missense	222223					integral to membrane		g.chr7:86541390C>T	AK055902	CCDS34677.1, CCDS47632.1, CCDS34677.2	7q21.12	2008-09-18			ENSG00000164659	ENSG00000164659			21945	protein-coding gene	gene with protein product	"EIG121-like"	614048					Standard	NM_001142749		Approved	FLJ31340, EIG121L	uc011kha.2	A8MWY0	OTTHUMG00000153995	ENST00000450689.2:c.2167G>A	7.37:g.86541390C>T	ENSP00000413445:p.Glu723Lys					KIAA1324L_ENST00000297222.6_Missense_Mutation_p.E483K|KIAA1324L_ENST00000416314.1_Missense_Mutation_p.E556K|KIAA1324L_ENST00000444627.1_Missense_Mutation_p.E652K	p.E723K	NM_001142749.2	NP_001136221.1	A8MWY0	K132L_HUMAN			15	2352	-	Esophageal squamous(14;0.0058)		723					A4D1C9|B4DJV3|Q17RI6|Q96DP2	Missense_Mutation	SNP	ENST00000450689.2	37	c.2167G>A	CCDS47632.1	.	.	.	.	.	.	.	.	.	.	C	16.73	3.203327	0.58234	.	.	ENSG00000164659	ENST00000450689;ENST00000297222;ENST00000444627;ENST00000416314	T;T;T;T	0.03831	3.79;3.79;3.79;3.79	5.82	5.82	0.92795	Mannose-6-phosphate receptor, binding (1);	0.104647	0.64402	D	0.000003	T	0.05868	0.0153	L	0.29908	0.895	0.50632	D	0.999888	B;B;B	0.20052	0.028;0.041;0.018	B;B;B	0.20577	0.03;0.016;0.011	T	0.48445	-0.9035	10	0.23302	T	0.38	.	19.0848	0.93200	0.0:1.0:0.0:0.0	.	723;483;556	A8MWY0;A8MWY0-2;B4DJV3	K132L_HUMAN;.;.	K	723;483;652;556	ENSP00000413445:E723K;ENSP00000297222:E483K;ENSP00000397377:E652K;ENSP00000402390:E556K	ENSP00000297222:E483K	E	-	1	0	KIAA1324L	86379326	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.378000	0.44309	2.751000	0.94390	0.650000	0.86243	GAG		0.413	KIAA1324L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333372.3	NM_152748		10	237	0	0	0	0.335167	0	10	237					T	86541390	C	T	86541390	3	4	28	1	0	0	0	0	1	0	0	0	8224	835	29	3	954	3	KIAA1324L	7	86541390	Missense_Mutation	SNP	C	TCGA-CH-5762-01A-11D-1576-08	2164	86541390	72597273	45	1370											
SLC25A40	55972	broad.mit.edu	37	chr7	87476439	87476439	+	Splice_Site	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atcacagttactgcaccaacTaatacaaacaagttaaaaaa	21	8	3	9	0	1	0	1	0	0	0	1	0	1	0	1	0	5	3	1	0	9	4			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr7:87476439T>A	ENST00000341119.5	-	8	804		c.e8-2			NM_018843.3	NP_061331.2	Q8TBP6	S2540_HUMAN	solute carrier family 25, member 40						transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)				central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	17	Esophageal squamous(14;0.00202)					CTGCACCAACTAATACAAACA	0.303																																						ENST00000341119.5																			0				central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	17						c.e8-2		solute carrier family 25, member 40							110	115	114					7																	87476439		2203	4300	6503	SO:0001630	splice_region_variant	55972				transmembrane transport	integral to membrane|mitochondrial inner membrane	binding	g.chr7:87476439T>A	AF125531	CCDS5610.1	7q21.12	2013-05-22			ENSG00000075303	ENSG00000075303		"Solute carriers"	29680	protein-coding gene	gene with protein product		610821				16949250	Standard	NM_018843		Approved	MCFP	uc003uje.3	Q8TBP6	OTTHUMG00000131033	ENST00000341119.5:c.458-2A>T	7.37:g.87476439T>A								NM_018843.3	NP_061331.2	Q8TBP6	S2540_HUMAN			8	804	-	Esophageal squamous(14;0.00202)							A8K483|D6W5P6|Q53GB1|Q9UHR1	Splice_Site	SNP	ENST00000341119.5	37		CCDS5610.1	.	.	.	.	.	.	.	.	.	.	T	22.7	4.318205	0.81469	.	.	ENSG00000075303	ENST00000341119	.	.	.	5.54	5.54	0.83059	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.6902	0.77446	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	SLC25A40	87314375	1.000000	0.71417	1.000000	0.80357	0.927000	0.56198	6.864000	0.75494	2.115000	0.64714	0.528000	0.53228	.		0.303	SLC25A40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253677.5	NM_018843	Intron	6	312	0	0	0	0.248553	0	6	312					A	87476439	T	A	87476439	5	1	28	1	0	0	0	0	0	0	1	0	14505	1536	53	5	580	5	SLC25A40	7	87476439	Splice_Site	SNP	T	TCGA-CH-5762-01A-11D-1576-08	935049	87476439	71662224	46	1371											
FSCN3	29999	broad.mit.edu	37	chr7	127235734	127235734	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ctgggtggacgcagcagttcCctgcctggaggagtgtggct	5	9	17	10	1	0	0	0	0	0	0	1	3	1	3	2	5	2	4	2	5	0	1			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr7:127235734C>G	ENST00000265825.5	+	2	737	c.518C>G	c.(517-519)cCc>cGc	p.P173R	GCC1_ENST00000497650.1_5'Flank|FSCN3_ENST00000420086.2_Missense_Mutation_p.P39R	NM_020369.2	NP_065102.1	Q9NQT6	FSCN3_HUMAN	fascin actin-bundling protein 3, testicular	173						actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)		p.P173R(1)		endometrium(2)|large_intestine(3)|liver(2)|lung(17)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30						GCAGCAGTTCCCTGCCTGGAG	0.602																																						ENST00000265825.5																			1	Substitution - Missense(1)	p.P173R(1)	prostate(1)	endometrium(2)|large_intestine(3)|liver(2)|lung(17)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30						c.(517-519)cCc>cGc		fascin homolog 3, actin-bundling protein, testicular (Strongylocentrotus purpuratus)							160	128	139					7																	127235734		2203	4300	6503	SO:0001583	missense	29999					actin cytoskeleton|cytoplasm	actin filament binding|protein binding, bridging	g.chr7:127235734C>G		CCDS34746.1	7q31.3	2014-02-03	2014-02-03		ENSG00000106328	ENSG00000106328		"Fascins"	3961	protein-coding gene	gene with protein product		615800	"fascin (Strongylocentrotus purpuratus) homolog 3 (actin-bundling protein, testicular)", "fascin homolog 3, actin-bundling protein, testicular (Strongylocentrotus purpuratus)"			11925108	Standard	NM_020369		Approved		uc003vmd.2	Q9NQT6	OTTHUMG00000022935	ENST00000265825.5:c.518C>G	7.37:g.127235734C>G	ENSP00000265825:p.Pro173Arg					FSCN3_ENST00000420086.2_Missense_Mutation_p.P39R	p.P173R	NM_020369.2	NP_065102.1	Q9NQT6	FSCN3_HUMAN			2	737	+			173					A4D0Z2|A6NLL7|B2RA62|B4DU68	Missense_Mutation	SNP	ENST00000265825.5	37	c.518C>G	CCDS34746.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.044120	0.75732	.	.	ENSG00000106328	ENST00000265825;ENST00000420086	T;T	0.66638	0.37;-0.22	5.58	5.58	0.84498	Actin cross-linking (1);	0.000000	0.64402	D	0.000008	T	0.80909	0.4714	M	0.69823	2.125	0.51482	D	0.999926	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.992	T	0.82194	-0.0578	10	0.87932	D	0	-21.7692	15.4359	0.75146	0.0:1.0:0.0:0.0	.	39;173	B4DU68;Q9NQT6	.;FSCN3_HUMAN	R	173;39	ENSP00000265825:P173R;ENSP00000412243:P39R	ENSP00000265825:P173R	P	+	2	0	FSCN3	127022970	1.000000	0.71417	0.993000	0.49108	0.894000	0.52154	4.777000	0.62361	2.788000	0.95919	0.650000	0.86243	CCC		0.602	FSCN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059256.2	NM_020369		24	128	0	0	0	0.681144	0	24	128					G	127235734	C	G	127235734	3	3	28	1	0	0	0	0	1	0	0	0	6069	623	22	5	524	5	FSCN3	7	127235734	Missense_Mutation	SNP	C	TCGA-CH-5762-01A-11D-1576-08	39759295	127235734	31902929	47	1372											
MYST3	7994	broad.mit.edu	37	chr8	41845068	41845068	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agaaactacagatggggattGgttcagcaaccggctgtgaa	13	8	13	7	1	1	3	1	1	0	2	1	4	1	4	1	4	4	3	1	4	4	3			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr8:41845068G>A	ENST00000396930.3	-	4	1157	c.614C>T	c.(613-615)cCa>cTa	p.P205L	KAT6A_ENST00000406337.1_Missense_Mutation_p.P205L|KAT6A_ENST00000265713.2_Missense_Mutation_p.P205L|KAT6A_ENST00000485568.1_Missense_Mutation_p.P205L	NM_001099412.1	NP_001092882.1	Q92794	KAT6A_HUMAN	K(lysine) acetyltransferase 6A	205	Interaction with PML.				aorta morphogenesis (GO:0035909)|cellular senescence (GO:0090398)|chromatin organization (GO:0006325)|DNA packaging (GO:0006323)|embryonic hemopoiesis (GO:0035162)|face morphogenesis (GO:0060325)|heart morphogenesis (GO:0003007)|histone acetylation (GO:0016573)|histone H3 acetylation (GO:0043966)|myeloid cell differentiation (GO:0030099)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive regulation of transcription, DNA-templated (GO:0045893)|protein acetylation (GO:0006473)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	Golgi apparatus (GO:0005794)|MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|PML body (GO:0016605)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)										GATGGGGATTGGTTCAGCAAC	0.378																																						ENST00000396930.3																			0											c.(613-615)cCa>cTa		K(lysine) acetyltransferase 6A							212	233	226					8																	41845068		2203	4300	6503	SO:0001583	missense	7994				histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding	g.chr8:41845068G>A	U47742	CCDS6124.1	8p11	2013-01-28	2011-07-21	2011-07-21	ENSG00000083168	ENSG00000083168		"Chromatin-modifying enzymes / K-acetyltransferases", "Zinc fingers, C2HC-type containing", "Zinc fingers, PHD-type"	13013	protein-coding gene	gene with protein product	"Monocytic leukemia zinc finger protein"	601408	"runt-related transcription factor binding protein 2", "MYST histone acetyltransferase (monocytic leukemia) 3"	ZNF220, RUNXBP2, MYST3		8849440, 8782817	Standard	NM_001099412		Approved	MOZ, ZC2HC6A	uc003xon.4	Q92794	OTTHUMG00000150453	ENST00000396930.3:c.614C>T	8.37:g.41845068G>A	ENSP00000380136:p.Pro205Leu					KAT6A_ENST00000406337.1_Missense_Mutation_p.P205L|KAT6A_ENST00000485568.1_Missense_Mutation_p.P205L|KAT6A_ENST00000265713.2_Missense_Mutation_p.P205L	p.P205L	NM_001099412.1	NP_001092882.1	Q92794	MYST3_HUMAN			4	1157	-			205					Q76L81	Missense_Mutation	SNP	ENST00000396930.3	37	c.614C>T	CCDS6124.1	.	.	.	.	.	.	.	.	.	.	G	15.90	2.969316	0.53614	.	.	ENSG00000083168	ENST00000265713;ENST00000406337;ENST00000396930;ENST00000485568	D;D;D;D	0.87179	-2.22;-2.22;-2.22;-2.22	5.56	5.56	0.83823	.	0.000000	0.64402	D	0.000013	D	0.93314	0.7869	M	0.73430	2.235	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.997	D	0.93795	0.7096	10	0.87932	D	0	-15.6931	17.6767	0.88232	0.0:0.0:1.0:0.0	.	205;205	A5PLL3;Q92794	.;KAT6A_HUMAN	L	205	ENSP00000265713:P205L;ENSP00000385888:P205L;ENSP00000380136:P205L;ENSP00000430606:P205L	ENSP00000265713:P205L	P	-	2	0	KAT6A	41964225	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.414000	0.97362	2.598000	0.87819	0.591000	0.81541	CCA		0.378	KAT6A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318163.1	NM_006766		13	549	0	0	0	0.435327	0	13	549					A	41845068	G	A	41845068	3	1	28	1	0	0	0	0	1	0	0	0	10104	1348	47	3	5460	3	MYST3	8	41845068	Missense_Mutation	SNP	G	TCGA-CH-5762-01A-11D-1576-08		41845068	104518954	48	1373											
TRPA1	8989	broad.mit.edu	37	chr8	72936093	72936099	+	Frame_Shift_Del	DEL	ATTTGGT	ATTTGGT	-																															atttctaaagatttatcagcAtttggtatttcttgtcttat																										TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr8:72936093_72936099delATTTGGT	ENST00000262209.4	-	26	3306_3312	c.3099_3105delACCAAAT	c.(3097-3105)ataccaaatfs	p.IPN1033fs	RP11-383H13.1_ENST00000457356.4_Intron|RP11-383H13.1_ENST00000524152.1_Intron|RP11-383H13.1_ENST00000537896.1_Intron	NM_007332.2	NP_015628.2	O75762	TRPA1_HUMAN	transient receptor potential cation channel, subfamily A, member 1	1033					calcium ion transmembrane transport (GO:0070588)|detection of chemical stimulus involved in sensory perception of pain (GO:0050968)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|response to cold (GO:0009409)|response to drug (GO:0042493)|response to hydrogen peroxide (GO:0042542)|response to pain (GO:0048265)|thermoception (GO:0050955)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|stereocilium bundle (GO:0032421)	calcium channel activity (GO:0005262)|channel activity (GO:0015267)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1)	98			Epithelial(68;0.223)		Menthol(DB00825)	ATTTATCAGCATTTGGTATTTCTTGTC	0.266																																						ENST00000262209.4																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1)	98						c.(3097-3105)atfs		transient receptor potential cation channel, subfamily A, member 1	Menthol(DB00825)																																			SO:0001589	frameshift_variant	8989					integral to plasma membrane		g.chr8:72936093_72936099delATTTGGT	Y10601	CCDS34908.1	8q13	2013-01-10	2003-11-20	2003-11-20	ENSG00000104321	ENSG00000104321		"Voltage-gated ion channels / Transient receptor potential cation channels", "Ankyrin repeat domain containing"	497	protein-coding gene	gene with protein product		604775	"ankyrin-like with transmembrane domains 1"	ANKTM1		16382100	Standard	NM_007332		Approved		uc003xza.3	O75762	OTTHUMG00000164516	ENST00000262209.4:c.3099_3105delACCAAAT	8.37:g.72936093_72936099delATTTGGT	ENSP00000262209:p.Ile1033fs					RP11-383H13.1_ENST00000524152.1_Intron|RP11-383H13.1_ENST00000537896.1_Intron|RP11-383H13.1_ENST00000457356.4_Intron	p.IPN1033fs	NM_007332.2	NP_015628.2	O75762	TRPA1_HUMAN	Epithelial(68;0.223)		26	3306_3312	-			1033					A6NIN6	Frame_Shift_Del	DEL	ENST00000262209.4	37	c.3099_3105delACCAAAT	CCDS34908.1																																																																																				0.266	TRPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379079.2	NM_007332		11	109						11	109	---	---	---	---	-	72936099	ATTTGGT	-	72936093	7	5	28	1	0	1	0	1	0	0	0	0	16574	214	8	0	262	0	TRPA1	8	72936093	Frame_Shift_Del	DEL	ATTTGGT	TCGA-CH-5762-01A-11D-1576-08	31091025	72936093	73427929	49	1374											
HNF4G	3174	broad.mit.edu	37	chr8	76456145	76456145	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacaggaaaacactatggggCatccagctgtgatgggtgca	13	7	13	8	0	0	1	0	1	0	0	1	2	1	2	1	4	4	3	1	4	4	1			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr8:76456145C>A	ENST00000354370.1	+	3	347	c.77C>A	c.(76-78)gCa>gAa	p.A26E	HNF4G_ENST00000396423.2_Missense_Mutation_p.A63E			Q14541	HNF4G_HUMAN	hepatocyte nuclear factor 4, gamma	26					endocrine pancreas development (GO:0031018)|gene expression (GO:0010467)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)	ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)	p.A26E(1)		breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	37	Breast(64;0.0448)		BRCA - Breast invasive adenocarcinoma(89;0.161)			CACTATGGGGCATCCAGCTGT	0.468																																						ENST00000396423.2																			1	Substitution - Missense(1)	p.A26E(1)	prostate(1)	breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						c.(187-189)gCa>gAa		hepatocyte nuclear factor 4, gamma							148	126	134					8																	76456145		2203	4300	6503	SO:0001583	missense	3174				endocrine pancreas development|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	g.chr8:76456145C>A		CCDS6220.2	8q21-q22	2013-01-16			ENSG00000164749	ENSG00000164749		"Nuclear hormone receptors"	5026	protein-coding gene	gene with protein product		605966				8622695, 12220494	Standard	NM_004133		Approved	NR2A2	uc003yar.3	Q14541	OTTHUMG00000149920	ENST00000354370.1:c.77C>A	8.37:g.76456145C>A	ENSP00000346339:p.Ala26Glu					HNF4G_ENST00000354370.1_Missense_Mutation_p.A26E	p.A63E	NM_004133.4	NP_004124.4	Q14541	HNF4G_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.161)		2	312	+	Breast(64;0.0448)		26					Q7Z2V9|Q9UH81|Q9UIS6	Missense_Mutation	SNP	ENST00000354370.1	37	c.188C>A		.	.	.	.	.	.	.	.	.	.	C	20.3	3.971443	0.74246	.	.	ENSG00000164749	ENST00000354370;ENST00000396423	D;D	0.97553	-4.43;-4.43	4.86	4.86	0.63082	Zinc finger, NHR/GATA-type (1);Zinc finger, nuclear hormone receptor-type (5);	0.000000	0.85682	D	0.000000	D	0.98963	0.9647	H	0.95151	3.63	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.97110	0.992;1.0	D	0.99494	1.0951	10	0.87932	D	0	.	18.1547	0.89687	0.0:1.0:0.0:0.0	.	63;26	F1D8Q4;Q14541	.;HNF4G_HUMAN	E	26;63	ENSP00000346339:A26E;ENSP00000379701:A63E	ENSP00000346339:A26E	A	+	2	0	HNF4G	76618700	1.000000	0.71417	0.984000	0.44739	0.250000	0.25880	7.541000	0.82084	2.526000	0.85167	0.484000	0.47621	GCA		0.468	HNF4G-002	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000313914.2	NM_004133		39	179	1	0	1.59361e-14	0.827153	1.8514e-14	39	179					A	76456145	C	A	76456145	3	1	28	1	0	0	0	0	1	0	0	0	7254	710	25	5	194	5	HNF4G	8	76456145	Missense_Mutation	SNP	C	TCGA-CH-5762-01A-11D-1576-08	3520052	76456145	69907877	50	1375											
RIPK2	8767	broad.mit.edu	37	chr8	90802606	90802606	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaatacttgtggtttctagaTcaccatctttaaatttactt	12	18	4	7	0	3	1	1	0	2	1	3	1	3	1	1	1	2	1	1	1	6	9			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr8:90802606T>C	ENST00000220751.4	+	11	1899	c.1585T>C	c.(1585-1587)Tca>Cca	p.S529P	RIPK2_ENST00000540020.1_Missense_Mutation_p.S392P	NM_003821.5	NP_003812.1	O43353	RIPK2_HUMAN	receptor-interacting serine-threonine kinase 2	529					activation of MAPK activity (GO:0000187)|adaptive immune response (GO:0002250)|apoptotic process (GO:0006915)|cellular response to lipoteichoic acid (GO:0071223)|cellular response to muramyl dipeptide (GO:0071225)|cellular response to peptidoglycan (GO:0071224)|defense response to Gram-positive bacterium (GO:0050830)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing 1 signaling pathway (GO:0070427)|nucleotide-binding oligomerization domain containing 2 signaling pathway (GO:0070431)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of alpha-beta T cell proliferation (GO:0046641)|positive regulation of apoptotic process (GO:0043065)|positive regulation of chemokine production (GO:0032722)|positive regulation of cytokine-mediated signaling pathway (GO:0001961)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of immature T cell proliferation (GO:0033091)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of JNK cascade (GO:0046330)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of T-helper 1 cell differentiation (GO:0045627)|positive regulation of T-helper 1 type immune response (GO:0002827)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|response to exogenous dsRNA (GO:0043330)|response to interleukin-1 (GO:0070555)|response to interleukin-12 (GO:0070671)|response to interleukin-18 (GO:0070673)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|T cell proliferation (GO:0042098)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|protein complex (GO:0043234)|vesicle (GO:0031982)	ATP binding (GO:0005524)|CARD domain binding (GO:0050700)|LIM domain binding (GO:0030274)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activity (GO:0004674)|signal transducer activity (GO:0004871)			kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(2)	10			BRCA - Breast invasive adenocarcinoma(11;0.0474)			GGTTTCTAGATCACCATCTTT	0.313																																						ENST00000220751.4																			0				kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(2)	10						c.(1585-1587)Tca>Cca		receptor-interacting serine-threonine kinase 2							54	55	55					8																	90802606		2203	4300	6503	SO:0001583	missense	8767				activation of MAPK activity|anti-apoptosis|apoptosis|inflammatory response|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of protein ubiquitination|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol	ATP binding|CARD domain binding|LIM domain binding|protein homodimerization activity|protein serine/threonine kinase activity|signal transducer activity	g.chr8:90802606T>C	AC004003	CCDS6247.1	8q21	2008-05-02			ENSG00000104312	ENSG00000104312			10020	protein-coding gene	gene with protein product		603455				9575181, 9705938	Standard	XM_005251092		Approved	RICK, RIP2, CARDIAK, CARD3	uc003yee.3	O43353	OTTHUMG00000163809	ENST00000220751.4:c.1585T>C	8.37:g.90802606T>C	ENSP00000220751:p.Ser529Pro					RIPK2_ENST00000540020.1_Missense_Mutation_p.S392P	p.S529P	NM_003821.5	NP_003812.1	O43353	RIPK2_HUMAN	BRCA - Breast invasive adenocarcinoma(11;0.0474)		11	1899	+			529					B7Z748|Q6UWF0	Missense_Mutation	SNP	ENST00000220751.4	37	c.1585T>C	CCDS6247.1	.	.	.	.	.	.	.	.	.	.	T	8.144	0.785975	0.16189	.	.	ENSG00000104312	ENST00000220751;ENST00000540020	T;T	0.80824	-1.2;-1.42	5.69	-7.66	0.01277	.	1.227400	0.06135	N	0.671421	T	0.55529	0.1926	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.36986	-0.9725	10	0.30854	T	0.27	1.8954	1.2319	0.01945	0.3887:0.2819:0.1774:0.1521	.	529	O43353	RIPK2_HUMAN	P	529;392	ENSP00000220751:S529P;ENSP00000441623:S392P	ENSP00000220751:S529P	S	+	1	0	RIPK2	90871747	0.000000	0.05858	0.000000	0.03702	0.039000	0.13416	-1.074000	0.03427	-0.772000	0.04602	-0.353000	0.07706	TCA		0.313	RIPK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375686.1			7	111	0	0	0	0.27861	0	7	111					C	90802606	T	C	90802606	3	2	28	1	0	0	0	0	1	0	0	0	13381	1435	50	4	1627	4	RIPK2	8	90802606	Missense_Mutation	SNP	T	TCGA-CH-5762-01A-11D-1576-08	14346461	90802606	55561416	51	1376											
RUNX1T1	862	broad.mit.edu	37	chr8	93017401	93017401	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgagaagcagctctgaggagTcaacaggtgaggtggtgctg	10	7	17	7	1	2	3	1	2	1	1	2	5	2	4	0	4	4	3	0	4	2	0			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr8:93017401T>C	ENST00000523629.1	-	6	1137	c.683A>G	c.(682-684)gAc>gGc	p.D228G	RUNX1T1_ENST00000520724.1_Missense_Mutation_p.D191G|RUNX1T1_ENST00000436581.2_Missense_Mutation_p.D239G|RUNX1T1_ENST00000265814.3_Missense_Mutation_p.D228G|RUNX1T1_ENST00000360348.2_Missense_Mutation_p.D191G|RUNX1T1_ENST00000396218.1_Missense_Mutation_p.D201G|RUNX1T1_ENST00000521553.1_Missense_Mutation_p.D191G|RUNX1T1_ENST00000422361.2_Missense_Mutation_p.D191G|RUNX1T1_ENST00000518844.1_Missense_Mutation_p.D201G	NM_001198626.1|NM_001198630.1|NM_001198633.1|NM_175634.2	NP_001185555.1|NP_001185559.1|NP_001185562.1|NP_783552.1	Q06455	MTG8_HUMAN	runt-related transcription factor 1; translocated to, 1 (cyclin D-related)	228					fat cell differentiation (GO:0045444)|generation of precursor metabolites and energy (GO:0006091)|regulation of DNA binding (GO:0051101)|transcription, DNA-templated (GO:0006351)	nuclear matrix (GO:0016363)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	86			BRCA - Breast invasive adenocarcinoma(11;0.0141)			CTCTGAGGAGTCAACAGGTGA	0.572																																						ENST00000523629.1																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	86						c.(682-684)gAc>gGc		runt-related transcription factor 1; translocated to, 1 (cyclin D-related)							189	157	168					8																	93017401		2203	4300	6503	SO:0001583	missense	862				generation of precursor metabolites and energy	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:93017401T>C	D43638	CCDS6256.1, CCDS6257.1, CCDS47891.1, CCDS56544.1, CCDS75766.1, CCDS75767.1	8q22	2007-01-29	2005-01-20	2005-01-22	ENSG00000079102	ENSG00000079102		"Zinc fingers, MYND-type"	1535	protein-coding gene	gene with protein product		133435	"core-binding factor, runt domain, alpha subunit 2; translocated to, 1; cyclin D-related"	AML1T1, CBFA2T1		1391946, 9790752	Standard	NM_004349		Approved	CDR, ETO, MTG8, ZMYND2	uc011lgi.2	Q06455	OTTHUMG00000164066	ENST00000523629.1:c.683A>G	8.37:g.93017401T>C	ENSP00000428543:p.Asp228Gly					RUNX1T1_ENST00000436581.2_Missense_Mutation_p.D239G|RUNX1T1_ENST00000396218.1_Missense_Mutation_p.D201G|RUNX1T1_ENST00000360348.2_Missense_Mutation_p.D191G|RUNX1T1_ENST00000265814.3_Missense_Mutation_p.D228G|RUNX1T1_ENST00000422361.2_Missense_Mutation_p.D191G|RUNX1T1_ENST00000521553.1_Missense_Mutation_p.D191G|RUNX1T1_ENST00000520724.1_Missense_Mutation_p.D191G|RUNX1T1_ENST00000518844.1_Missense_Mutation_p.D201G	p.D228G	NM_001198626.1|NM_001198630.1|NM_001198633.1|NM_175634.2	NP_001185555.1|NP_001185559.1|NP_001185562.1|NP_783552.1	Q06455	MTG8_HUMAN	BRCA - Breast invasive adenocarcinoma(11;0.0141)		6	1137	-			228					B7Z4P4|E7EPN4|O14784|Q06456|Q14873|Q16239|Q16346|Q16347|Q6IBL1|Q6NXH1|Q7Z4J5|Q92479|Q9BRZ0	Missense_Mutation	SNP	ENST00000523629.1	37	c.683A>G	CCDS6256.1	.	.	.	.	.	.	.	.	.	.	T	29.0	4.971695	0.92919	.	.	ENSG00000079102	ENST00000523629;ENST00000396218;ENST00000265814;ENST00000360348;ENST00000422361;ENST00000520724;ENST00000436581;ENST00000518844;ENST00000521553;ENST00000518992	T;T;T;T;T;T;T;T;T;T	0.63255	0.93;0.92;0.93;0.95;0.95;0.95;0.91;0.92;0.42;-0.03	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	T	0.79857	0.4518	M	0.78637	2.42	0.80722	D	1	D;D;D	0.89917	0.999;0.998;1.0	D;D;D	0.91635	0.98;0.965;0.999	T	0.82617	-0.0369	10	0.87932	D	0	-23.5869	15.8933	0.79318	0.0:0.0:0.0:1.0	.	239;228;201	E7EPN4;Q06455;Q06455-2	.;MTG8_HUMAN;.	G	228;201;228;191;191;191;239;201;191;228	ENSP00000428543:D228G;ENSP00000379520:D201G;ENSP00000265814:D228G;ENSP00000353504:D191G;ENSP00000390137:D191G;ENSP00000428742:D191G;ENSP00000402257:D239G;ENSP00000430728:D201G;ENSP00000429728:D191G;ENSP00000431094:D228G	ENSP00000265814:D228G	D	-	2	0	RUNX1T1	93086577	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.289000	0.72696	2.158000	0.67659	0.533000	0.62120	GAC		0.572	RUNX1T1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000377045.3	NM_004349, NM_175635		12	268	0	0	0	0.411799	0	12	268					C	93017401	T	C	93017401	3	2	28	1	0	0	0	0	1	0	0	0	13747	1667	58	4	1159	4	RUNX1T1	8	93017401	Missense_Mutation	SNP	T	TCGA-CH-5762-01A-11D-1576-08	2214795	93017401	53346621	52	1377											
SNX31	169166	broad.mit.edu	37	chr8	101589258	101589258	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctcacagacctggctttgttGaatgtggtattttttacttt	7	19	8	7	0	1	2	1	1	0	1	1	2	1	2	1	2	1	3	1	2	3	7			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr8:101589258G>A	ENST00000311812.2	-	13	1366	c.1216C>T	c.(1216-1218)Caa>Taa	p.Q406*	SNX31_ENST00000428383.2_Nonsense_Mutation_p.Q307*	NM_152628.3	NP_689841.3	Q8N9S9	SNX31_HUMAN	sorting nexin 31	406					protein transport (GO:0015031)	protein complex (GO:0043234)	phosphatidylinositol binding (GO:0035091)	p.Q406*(1)		NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|prostate(1)|skin(3)|urinary_tract(1)	26	all_cancers(14;4.01e-05)|all_epithelial(15;1.26e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125)		Epithelial(11;1.21e-11)|all cancers(13;2.62e-09)|OV - Ovarian serous cystadenocarcinoma(57;3.22e-06)|STAD - Stomach adenocarcinoma(118;0.206)			TGGCTTTGTTGAATGTGGTAT	0.343																																						ENST00000311812.2																			1	Substitution - Nonsense(1)	p.Q406*(1)	prostate(1)	NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|prostate(1)|skin(3)|urinary_tract(1)	26						c.(1216-1218)Caa>Taa		sorting nexin 31							239	230	233					8																	101589258		2203	4300	6503	SO:0001587	stop_gained	169166				cell communication|protein transport		phosphatidylinositol binding	g.chr8:101589258G>A		CCDS6288.1	8q22.3	2011-05-03			ENSG00000174226	ENSG00000174226		"Sorting nexins"	28605	protein-coding gene	gene with protein product						16782399	Standard	NM_152628		Approved	MGC39715	uc003yjr.3	Q8N9S9	OTTHUMG00000164725	ENST00000311812.2:c.1216C>T	8.37:g.101589258G>A	ENSP00000312368:p.Gln406*					SNX31_ENST00000428383.2_Nonsense_Mutation_p.Q307*	p.Q406*	NM_152628.3	NP_689841.3	Q8N9S9	SNX31_HUMAN	Epithelial(11;1.21e-11)|all cancers(13;2.62e-09)|OV - Ovarian serous cystadenocarcinoma(57;3.22e-06)|STAD - Stomach adenocarcinoma(118;0.206)		13	1366	-	all_cancers(14;4.01e-05)|all_epithelial(15;1.26e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125)		406					C9J6L9|Q8N0U9	Nonsense_Mutation	SNP	ENST00000311812.2	37	c.1216C>T	CCDS6288.1	.	.	.	.	.	.	.	.	.	.	G	18.77	3.695200	0.68386	.	.	ENSG00000174226	ENST00000311812;ENST00000428383	.	.	.	5.87	4.99	0.66335	.	1.094710	0.06927	N	0.810409	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.05959	T	0.93	4.9795	13.4033	0.60896	0.0:0.1573:0.8427:0.0	.	.	.	.	X	406;307	.	ENSP00000312368:Q406X	Q	-	1	0	SNX31	101658434	0.122000	0.22280	0.021000	0.16686	0.412000	0.31113	2.253000	0.43205	1.604000	0.50143	0.655000	0.94253	CAA		0.343	SNX31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379910.1	NM_152628		52	334	0	0	0	0.870114	0	52	334					A	101589258	G	A	101589258	4	1	28	1	0	0	0	0	0	1	0	0	14901	1299	45	3	114	3	SNX31	8	101589258	Nonsense_Mutation	SNP	G	TCGA-CH-5762-01A-11D-1576-08	8571857	101589258	44774764	53	1378											
ANGPT1	284	broad.mit.edu	37	chr8	108348408	108348408	+	De_novo_Start_InFrame	DEL	T	T	-																															catggatcttcaagatttcaTttgtctgttgaagaagttgc																										TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr8:108348408delT	ENST00000520734.1	-	0	230				ANGPT1_ENST00000520052.1_De_novo_Start_InFrame			Q15389	ANGP1_HUMAN	angiopoietin 1						activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|cell-substrate adhesion (GO:0031589)|glomerulus vasculature development (GO:0072012)|hemopoiesis (GO:0030097)|heparin biosynthetic process (GO:0030210)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell adhesion (GO:0007162)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of vascular permeability (GO:0043116)|positive chemotaxis (GO:0050918)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell adhesion (GO:0045785)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of receptor internalization (GO:0002092)|protein localization to cell surface (GO:0034394)|regulation of satellite cell proliferation (GO:0014842)|sprouting angiogenesis (GO:0002040)|Tie signaling pathway (GO:0048014)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane raft (GO:0045121)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	receptor tyrosine kinase binding (GO:0030971)			NS(1)|breast(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(13)|ovary(4)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	43	Breast(1;5.06e-08)		OV - Ovarian serous cystadenocarcinoma(57;5.53e-09)			CAAGATTTCATTTGTCTGTTG	0.363																																						ENST00000520734.1																			0				NS(1)|breast(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(13)|ovary(4)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	43								angiopoietin 1							134	123	127					8																	108348408		2203	4300	6503			284				activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|blood coagulation|cell differentiation|heparin biosynthetic process|leukocyte migration|negative regulation of cell adhesion|negative regulation of endothelial cell apoptosis|negative regulation of vascular permeability|positive chemotaxis|positive regulation of blood vessel endothelial cell migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of protein ubiquitination|positive regulation of receptor internalization|protein localization at cell surface|regulation of satellite cell proliferation|sprouting angiogenesis|Tie receptor signaling pathway	extracellular space|membrane raft|microvillus|plasma membrane	receptor tyrosine kinase binding	g.chr8:108348408delT	D13628	CCDS6306.1, CCDS56551.1	8q23.1	2013-02-06			ENSG00000154188	ENSG00000154188		"Fibrinogen C domain containing"	484	protein-coding gene	gene with protein product		601667				9545648	Standard	NM_001146		Approved	KIAA0003, Ang1	uc003ymn.3	Q15389	OTTHUMG00000164812		8.37:g.108348408delT						ANGPT1_ENST00000520052.1_De_novo_Start_InFrame				Q15389	ANGP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;5.53e-09)		0	230	-	Breast(1;5.06e-08)							Q5HYA0	Translation_Start_Site	DEL	ENST00000520734.1	37																																																																																						0.363	ANGPT1-002	PUTATIVE	alternative_5_UTR|basic	protein_coding	protein_coding	OTTHUMT00000380428.2	NM_001146, NM_139290		9	115						9	115	---	---	---	---	-	108348408	T	-	108348408	6	5	28	1	0	1	0	1	0	0	0	0	610	1493	52	0		0	ANGPT1	8	108348408	De_novo_Start_InFrame	DEL	T	TCGA-CH-5762-01A-11D-1576-08	6759150	108348408	38015614	54	1379											
DGAT1	8694	broad.mit.edu	37	chr8	145541933	145541933	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cagcccctcaccagccttggCcctggccctgcggcaccatg	5	6	10	20	1	1	0	1	0	0	0	1	0	1	0	7	3	3	1	7	3	0	1			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr8:145541933C>T	ENST00000332324.4	-	7	940	c.667G>A	c.(667-669)Gcc>Acc	p.A223T	DGAT1_ENST00000531896.1_Missense_Mutation_p.A223T|DGAT1_ENST00000527438.1_5'Flank	NM_012079.4	NP_036211.2	O75907	DGAT1_HUMAN	diacylglycerol O-acyltransferase 1	223					acylglycerol acyl-chain remodeling (GO:0036155)|cellular lipid metabolic process (GO:0044255)|diacylglycerol metabolic process (GO:0046339)|glycerophospholipid biosynthetic process (GO:0046474)|lipid storage (GO:0019915)|long-chain fatty-acyl-CoA metabolic process (GO:0035336)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|triglyceride metabolic process (GO:0006641)|very-low-density lipoprotein particle assembly (GO:0034379)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	diacylglycerol O-acyltransferase activity (GO:0004144)|retinol O-fatty-acyltransferase activity (GO:0050252)|transferase activity, transferring acyl groups (GO:0016746)	p.A223T(1)		breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	9	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.94e-40)|Epithelial(56;7.67e-40)|all cancers(56;7.88e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0441)|Colorectal(110;0.055)			CCAGCCTTGGCCCTGGCCCTG	0.692																																						ENST00000332324.4																			1	Substitution - Missense(1)	p.A223T(1)	prostate(1)	breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	9						c.(667-669)Gcc>Acc		diacylglycerol O-acyltransferase 1							26	28	27					8																	145541933		2202	4294	6496	SO:0001583	missense	8694				triglyceride biosynthetic process|very-low-density lipoprotein particle assembly	endoplasmic reticulum membrane|integral to membrane	diacylglycerol O-acyltransferase activity	g.chr8:145541933C>T	AF059202	CCDS6420.1	8q24.3	2014-05-06	2010-06-24	2001-11-09	ENSG00000185000	ENSG00000185000	2.3.1.20		2843	protein-coding gene	gene with protein product		604900	"diacylglycerol O-acyltransferase homolog 1 (mouse)"			9756920	Standard	NM_012079		Approved	ARGP1, DGAT	uc003zbv.3	O75907	OTTHUMG00000174606	ENST00000332324.4:c.667G>A	8.37:g.145541933C>T	ENSP00000332258:p.Ala223Thr					DGAT1_ENST00000531896.1_Missense_Mutation_p.A223T	p.A223T	NM_012079.4	NP_036211.2	O75907	DGAT1_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;3.94e-40)|Epithelial(56;7.67e-40)|all cancers(56;7.88e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0441)|Colorectal(110;0.055)		7	940	-	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		223					B2RWQ2|D3DWL6|Q96BB8	Missense_Mutation	SNP	ENST00000332324.4	37	c.667G>A	CCDS6420.1	.	.	.	.	.	.	.	.	.	.	C	4.404	0.074668	0.08485	.	.	ENSG00000185000	ENST00000332324;ENST00000526479;ENST00000531896	T	0.31510	1.49	5.29	0.826	0.18829	.	0.372171	0.27932	N	0.017261	T	0.19725	0.0474	L	0.46614	1.455	0.09310	N	0.999997	B;B	0.26775	0.159;0.011	B;B	0.23018	0.043;0.026	T	0.20974	-1.0259	10	0.15066	T	0.55	-24.9747	6.205	0.20598	0.1371:0.602:0.0:0.261	.	223;223	E9PS80;O75907	.;DGAT1_HUMAN	T	223	ENSP00000332258:A223T	ENSP00000332258:A223T	A	-	1	0	DGAT1	145512741	0.065000	0.20965	0.003000	0.11579	0.003000	0.03518	0.153000	0.16323	0.226000	0.20979	-0.324000	0.08512	GCC		0.692	DGAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382059.3	NM_012079		8	51	0	0	0	0.307466	0	8	51					T	145541933	C	T	145541933	3	4	28	1	0	0	0	0	1	0	0	0	4457	739	26	3	843	3	DGAT1	8	145541933	Missense_Mutation	SNP	C	TCGA-CH-5762-01A-11D-1576-08	37193525	145541933	822089	55	1380											
FREM1	158326	broad.mit.edu	37	chr9	14823308	14823308	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggggcatgtaggccactttCatatagttcacagcatgctg	9	11	12	9	0	2	0	2	0	0	0	2	0	2	0	1	3	2	5	1	3	3	5			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr9:14823308C>A	ENST00000380880.3	-	13	2970	c.2187G>T	c.(2185-2187)atG>atT	p.M729I	FREM1_ENST00000422223.2_Missense_Mutation_p.M729I|FREM1_ENST00000380881.4_Missense_Mutation_p.M730I			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	729					cell communication (GO:0007154)|cell-matrix adhesion (GO:0007160)|craniofacial suture morphogenesis (GO:0097094)	basement membrane (GO:0005604)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)	p.M729I(1)|p.M730I(1)		breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		AGGCCACTTTCATATAGTTCA	0.453																																						ENST00000380881.4																			2	Substitution - Missense(2)	p.M729I(1)|p.M730I(1)	prostate(2)	breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100						c.(2188-2190)atG>atT		FRAS1 related extracellular matrix 1							188	183	185					9																	14823308		1967	4158	6125	SO:0001583	missense	158326				cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding	g.chr9:14823308C>A	AK058190	CCDS47952.1, CCDS55293.1	9p22.3	2010-06-04	2004-12-15	2004-12-15	ENSG00000164946	ENSG00000164946			23399	protein-coding gene	gene with protein product		608944	"chromosome 9 open reading frame 154"	C9orf154		12838346, 15345741	Standard	NM_144966		Approved	FLJ25461, C9orf145, C9orf143, DKFZp686M16108, TILRR	uc003zlm.3	Q5H8C1	OTTHUMG00000019575	ENST00000380880.3:c.2187G>T	9.37:g.14823308C>A	ENSP00000370262:p.Met729Ile					FREM1_ENST00000422223.2_Missense_Mutation_p.M729I|FREM1_ENST00000380880.3_Missense_Mutation_p.M729I	p.M730I			Q5H8C1	FREM1_HUMAN		GBM - Glioblastoma multiforme(50;3.53e-06)	14	3005	-			729					B7ZBX4|Q5VV00|Q5VV01|Q6MZI4|Q8NEG9|Q96LI3	Missense_Mutation	SNP	ENST00000380880.3	37	c.2190G>T	CCDS47952.1	.	.	.	.	.	.	.	.	.	.	C	14.12	2.439999	0.43326	.	.	ENSG00000164946	ENST00000380881;ENST00000422223;ENST00000380880	T;T;T	0.16597	2.33;2.33;2.33	5.21	5.21	0.72293	.	0.287022	0.47852	D	0.000208	T	0.20455	0.0492	M	0.72118	2.19	0.41875	D	0.990292	B	0.31174	0.311	B	0.28784	0.094	T	0.03060	-1.1077	10	0.20519	T	0.43	-7.0089	14.6992	0.69145	0.0:0.8551:0.1449:0.0	.	729	Q5H8C1	FREM1_HUMAN	I	730;729;729	ENSP00000370263:M730I;ENSP00000412940:M729I;ENSP00000370262:M729I	ENSP00000370257:M732I	M	-	3	0	FREM1	14813308	1.000000	0.71417	0.993000	0.49108	0.950000	0.60333	5.656000	0.67988	2.591000	0.87537	0.462000	0.41574	ATG		0.453	FREM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000339474.2	NM_144966		74	350	1	0	8.41775e-28	0.870114	1e-27	74	350					A	14823308	C	A	14823308	3	1	28	1	0	0	0	0	1	0	0	0	6044	826	29	5	4502	5	FREM1	9	14823308	Missense_Mutation	SNP	C	TCGA-CH-5762-01A-11D-1576-08		14823308	126390123	56	1381											
TMC1	117531	broad.mit.edu	37	chr9	75357381	75357381	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aatgggcaaaattcctccgtGattttgagaacttcaaagct	13	12	8	8	1	1	2	1	2	0	1	3	3	3	2	2	1	2	2	2	1	5	4			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr9:75357381G>A	ENST00000297784.5	+	10	1015	c.475G>A	c.(475-477)Gat>Aat	p.D159N	TMC1_ENST00000340019.3_Missense_Mutation_p.D159N|TMC1_ENST00000396237.3_Missense_Mutation_p.D159N	NM_138691.2	NP_619636.2	Q8TDI8	TMC1_HUMAN	transmembrane channel-like 1	159	Arg/Asp/Glu/Lys-rich (highly charged).				auditory receptor cell development (GO:0060117)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|vestibular reflex (GO:0060005)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|stereocilium bundle tip (GO:0032426)	voltage-gated calcium channel activity (GO:0005245)	p.D159N(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(21)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	36						ATTCCTCCGTGATTTTGAGAA	0.378																																					Pancreas(75;173 1345 14232 34245 43413)	ENST00000297784.5																			1	Substitution - Missense(1)	p.D159N(1)	prostate(1)	NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(21)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	36						c.(475-477)Gat>Aat		transmembrane channel-like 1							89	83	85					9																	75357381		2203	4300	6503	SO:0001583	missense	117531				sensory perception of sound	integral to membrane		g.chr9:75357381G>A	AF417578	CCDS6643.1	9q21	2014-01-28			ENSG00000165091	ENSG00000165091			16513	protein-coding gene	gene with protein product		606706	"transmembrane, cochlear expressed, 1"	DFNA36, DFNB7, DFNB11		11850618, 11850623	Standard	NM_138691		Approved		uc004aiz.1	Q8TDI8	OTTHUMG00000020014	ENST00000297784.5:c.475G>A	9.37:g.75357381G>A	ENSP00000297784:p.Asp159Asn					TMC1_ENST00000396237.3_Missense_Mutation_p.D159N|TMC1_ENST00000340019.3_Missense_Mutation_p.D159N	p.D159N	NM_138691.2	NP_619636.2	Q8TDI8	TMC1_HUMAN			10	1015	+			159			Arg/Asp/Glu/Lys-rich (highly charged).		A8MVZ2|B1AM91	Missense_Mutation	SNP	ENST00000297784.5	37	c.475G>A	CCDS6643.1	.	.	.	.	.	.	.	.	.	.	G	35	5.418618	0.96092	.	.	ENSG00000165091	ENST00000297784;ENST00000340019;ENST00000396235;ENST00000537917;ENST00000538054;ENST00000542143;ENST00000396237	T;T;T	0.14640	2.49;2.49;2.49	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	T	0.35770	0.0943	M	0.67700	2.07	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.79784	0.991;0.991;0.993	T	0.01639	-1.1306	10	0.18710	T	0.47	-31.5326	18.8421	0.92188	0.0:0.0:1.0:0.0	.	126;126;159	A5D8Y1;A4FUA6;Q8TDI8	.;.;TMC1_HUMAN	N	159;159;126;126;126;153;159	ENSP00000297784:D159N;ENSP00000341433:D159N;ENSP00000379538:D159N	ENSP00000297784:D159N	D	+	1	0	TMC1	74547201	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.892000	0.92491	2.744000	0.94065	0.655000	0.94253	GAT		0.378	TMC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052655.1			16	87	0	0	0	0.500413	0	16	87					A	75357381	G	A	75357381	3	1	28	1	0	0	0	0	1	0	0	0	15981	1290	45	3	497	3	TMC1	9	75357381	Missense_Mutation	SNP	G	TCGA-CH-5762-01A-11D-1576-08	60534073	75357381	65856050	57	1382											
FGD3	89846	broad.mit.edu	37	chr9	95784668	95784668	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaggcagttcgggtgcagcAggggtaagtgccccatgctc	8	7	16	10	1	0	0	0	0	0	0	2	1	0	0	2	4	4	6	2	4	2	2			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr9:95784668A>C	ENST00000375482.3	+	14	2050	c.1554A>C	c.(1552-1554)gcA>gcC	p.A518A	FGD3_ENST00000538555.1_Silent_p.A121A|FGD3_ENST00000337352.6_Silent_p.A518A|FGD3_ENST00000416701.2_Silent_p.A518A	NM_001083536.1	NP_001077005.1	Q5JSP0	FGD3_HUMAN	FYVE, RhoGEF and PH domain containing 3	518					actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|ruffle (GO:0001726)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|small GTPase binding (GO:0031267)	p.A518A(2)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|urinary_tract(1)	17						CGGGTGCAGCAGGGGTAAGTG	0.612																																						ENST00000375482.3																			2	Substitution - coding silent(2)	p.A518A(2)	prostate(2)	breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|urinary_tract(1)	17						c.(1552-1554)gcA>gcC		FYVE, RhoGEF and PH domain containing 3							47	49	49					9																	95784668		2018	4168	6186	SO:0001819	synonymous_variant	89846				actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding	g.chr9:95784668A>C	AK000004	CCDS43849.1, CCDS69619.1	9q22	2013-01-10	2004-08-24		ENSG00000127084	ENSG00000127084		"Zinc fingers, FYVE domain containing", "Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	16027	protein-coding gene	gene with protein product			"FGD1 family, member 3"			11214971	Standard	NM_001083536		Approved	FLJ00004, ZFYVE5	uc004asz.2	Q5JSP0	OTTHUMG00000021032	ENST00000375482.3:c.1554A>C	9.37:g.95784668A>C						FGD3_ENST00000538555.1_Silent_p.A121A|FGD3_ENST00000416701.2_Silent_p.A518A|FGD3_ENST00000337352.6_Silent_p.A518A	p.A518A	NM_001083536.1	NP_001077005.1	Q5JSP0	FGD3_HUMAN			14	2050	+			518					F8W7P2|Q4VX84|Q7Z7D9|Q8N5G1	Silent	SNP	ENST00000375482.3	37	c.1554A>C	CCDS43849.1																																																																																				0.612	FGD3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055493.1	NM_033086		13	103	0	0	0	0.457914	0	13	103					C	95784668	A	C	95784668	2	2	28	1	0	0	0	0	0	0	0	1	5834	175	7	5		5	FGD3	9	95784668	Silent	SNP	A	TCGA-CH-5762-01A-11D-1576-08	20427287	95784668	45428763	58	1383											
DDIT4	54541	broad.mit.edu	37	chr10	74034535	74034535	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gaacacttgtgtgccaacctGatgcagctgctgcaggagag	10	8	13	10	0	0	2	0	1	0	1	0	4	0	2	2	1	7	4	2	1	2	1			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr10:74034535G>A	ENST00000307365.3	+	3	489	c.288G>A	c.(286-288)ctG>ctA	p.L96L	RP11-442H21.2_ENST00000491934.2_RNA	NM_019058.2	NP_061931.1	Q9NX09	DDIT4_HUMAN	DNA-damage-inducible transcript 4	96					brain development (GO:0007420)|cell proliferation (GO:0008283)|defense response to virus (GO:0051607)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|negative regulation of glycolytic process (GO:0045820)|negative regulation of intracellular signal transduction (GO:1902532)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|negative regulation of TOR signaling (GO:0032007)|neuron differentiation (GO:0030182)|neuron migration (GO:0001764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of neuron death (GO:1901216)|protein complex disassembly (GO:0043241)|reactive oxygen species metabolic process (GO:0072593)|response to hypoxia (GO:0001666)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|mitochondrion (GO:0005739)		p.L96L(1)		cervix(1)|endometrium(2)|lung(5)|pancreas(1)|prostate(2)|urinary_tract(1)	12						GTGCCAACCTGATGCAGCTGC	0.627											OREG0020262	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000307365.3																			1	Substitution - coding silent(1)	p.L96L(1)	prostate(1)	cervix(1)|endometrium(2)|lung(5)|pancreas(1)|prostate(2)|urinary_tract(1)	12						c.(286-288)ctG>ctA		DNA-damage-inducible transcript 4							107	110	109					10																	74034535		2203	4300	6503	SO:0001819	synonymous_variant	54541				apoptosis			g.chr10:74034535G>A	AK000507	CCDS7315.1	10q22.1	2008-05-14			ENSG00000168209	ENSG00000168209			24944	protein-coding gene	gene with protein product	"HIF-1 responsive RTP801"	607729				11884613	Standard	NM_019058		Approved	RTP801, FLJ20500, REDD-1, REDD1, Dig2	uc001jsx.1	Q9NX09	OTTHUMG00000018435	ENST00000307365.3:c.288G>A	10.37:g.74034535G>A			OREG0020262	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1149		p.L96L	NM_019058.2	NP_061931.1	Q9NX09	DDIT4_HUMAN			3	489	+			96					Q9H0S3	Silent	SNP	ENST00000307365.3	37	c.288G>A	CCDS7315.1																																																																																				0.627	DDIT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048577.1	NM_019058		37	371	0	0	0	0.847076	0	37	371					A	74034535	G	A	74034535	2	1	28	1	0	0	0	0	0	0	0	1	4331	1277	45	3		3	DDIT4	10	74034535	Silent	SNP	G	TCGA-CH-5762-01A-11D-1576-08		74034535	61500212	59	1384											
USP54	159195	broad.mit.edu	37	chr10	75258743	75258743	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tggtagtgtggcagtgtaggTtagttgaggattgcaccctg	7	13	16	5	0	0	1	0	1	0	0	0	2	0	2	1	4	1	6	1	4	3	5	rs370633842		TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr10:75258743T>C	ENST00000339859.4	-	23	4799	c.4699A>G	c.(4699-4701)Acc>Gcc	p.T1567A	RP11-137L10.6_ENST00000596320.1_RNA|RP11-137L10.6_ENST00000442133.4_RNA|USP54_ENST00000394811.2_Missense_Mutation_p.T608A|USP54_ENST00000422491.2_Missense_Mutation_p.T702A|PPP3CB_ENST00000394822.2_5'Flank|PPP3CB_ENST00000342558.3_5'Flank|PPP3CB_ENST00000360663.5_5'Flank|USP54_ENST00000497106.1_5'UTR|PPP3CB_ENST00000394829.2_5'Flank|PPP3CB_ENST00000394828.2_5'Flank|RP11-137L10.6_ENST00000600607.1_RNA|RP11-137L10.6_ENST00000600887.1_RNA|RP11-137L10.6_ENST00000595069.1_RNA|RP11-137L10.6_ENST00000595935.1_RNA|USP54_ENST00000428547.1_Missense_Mutation_p.T1417A|RP11-137L10.6_ENST00000422977.1_RNA|USP54_ENST00000408019.1_Missense_Mutation_p.T1567A|RP11-137L10.6_ENST00000597958.1_RNA|RP11-137L10.6_ENST00000600206.1_RNA|RP11-137L10.6_ENST00000593790.1_RNA			Q70EL1	UBP54_HUMAN	ubiquitin specific peptidase 54	1567					ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitinyl hydrolase activity (GO:0036459)			breast(5)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)	30	Prostate(51;0.0112)					GCAGTGTAGGTTAGTTGAGGA	0.532																																					Colon(195;880 2046 8854 25025 38456)	ENST00000339859.4																			0				breast(5)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)	30						c.(4699-4701)Acc>Gcc		ubiquitin specific peptidase 54							250	221	231					10																	75258743		2203	4300	6503	SO:0001583	missense	159195				ubiquitin-dependent protein catabolic process		protein binding|ubiquitin thiolesterase activity	g.chr10:75258743T>C	AJ583820	CCDS7329.2	10q22.3	2006-09-26	2005-08-08	2004-01-30	ENSG00000166348	ENSG00000166348		"Ubiquitin-specific peptidases"	23513	protein-coding gene	gene with protein product			"chromosome 10 open reading frame 29", "ubiquitin specific protease 54"	C10orf29		14715245	Standard	NM_152586		Approved	FLJ37318, bA137L10.3, bA137L10.4	uc001juo.3	Q70EL1	OTTHUMG00000018469	ENST00000339859.4:c.4699A>G	10.37:g.75258743T>C	ENSP00000345216:p.Thr1567Ala					USP54_ENST00000394811.2_Missense_Mutation_p.T608A|RP11-137L10.6_ENST00000595935.1_RNA|USP54_ENST00000428547.1_Missense_Mutation_p.T1417A|USP54_ENST00000497106.1_5'UTR|RP11-137L10.6_ENST00000600887.1_RNA|RP11-137L10.6_ENST00000442133.3_RNA|RP11-137L10.6_ENST00000600607.1_RNA|RP11-137L10.6_ENST00000600206.1_RNA|RP11-137L10.6_ENST00000597958.1_RNA|RP11-137L10.6_ENST00000596320.1_RNA|USP54_ENST00000408019.1_Missense_Mutation_p.T1567A|RP11-137L10.6_ENST00000595069.1_RNA|RP11-137L10.6_ENST00000593790.1_RNA|USP54_ENST00000422491.2_Missense_Mutation_p.T702A	p.T1567A			Q70EL1	UBP54_HUMAN			23	4799	-	Prostate(51;0.0112)		1567					A1L4Q4|A3KFK3|A3KFK5|A3KFK6|A3KFK7|A6PVS4|A6PVS5|A6PVS6|A6PVS7|B3KVY1|B9ZVM1|Q5F2F4|Q6P1N6|Q6ZSP1|Q6ZSR1|Q6ZTM0|Q8N1X2	Missense_Mutation	SNP	ENST00000339859.4	37	c.4699A>G	CCDS7329.2	.	.	.	.	.	.	.	.	.	.	T	14.06	2.422609	0.43020	.	.	ENSG00000166348	ENST00000339859;ENST00000408019;ENST00000428547;ENST00000394811;ENST00000422491	T;T;T;T;T	0.25912	1.93;1.93;1.92;1.77;1.78	4.84	4.84	0.62591	.	.	.	.	.	T	0.24624	0.0597	L	0.44542	1.39	0.80722	D	1	B;B	0.28291	0.206;0.043	B;B	0.28305	0.088;0.016	T	0.04090	-1.0978	9	0.44086	T	0.13	-0.8867	14.5737	0.68229	0.0:0.0:0.0:1.0	.	702;1567	E7EW90;Q70EL1	.;UBP54_HUMAN	A	1567;1567;1417;608;702	ENSP00000345216:T1567A;ENSP00000386080:T1567A;ENSP00000408714:T1417A;ENSP00000378290:T608A;ENSP00000407368:T702A	ENSP00000345216:T1567A	T	-	1	0	USP54	74928749	0.999000	0.42202	0.995000	0.50966	0.904000	0.53231	5.268000	0.65536	2.029000	0.59856	0.443000	0.29094	ACC		0.532	USP54-014	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316563.2	NM_152586		7	419	0	0	0	0.27861	0	7	419					C	75258743	T	C	75258743	3	2	28	1	0	0	0	0	1	0	0	0	17082	1725	60	4	359	4	USP54	10	75258743	Missense_Mutation	SNP	T	TCGA-CH-5762-01A-11D-1576-08	1224208	75258743	60276004	60	1385											
C10orf99	387695	broad.mit.edu	37	chr10	85933664	85933664	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctgcttctctgcttctccatCttctccacagaaggtagggc	6	13	8	14	0	4	1	0	0	4	1	7	1	4	1	2	2	2	3	2	2	2	4			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr10:85933664C>G	ENST00000372126.3	+	1	171	c.57C>G	c.(55-57)atC>atG	p.I19M		NM_207373.2	NP_997256.1	Q6UWK7	CJ099_HUMAN	chromosome 10 open reading frame 99	19						extracellular region (GO:0005576)		p.I19M(1)|p.I19I(1)		endometrium(1)|lung(1)|pancreas(1)|prostate(1)	4						GCTTCTCCATCTTCTCCACAG	0.547																																						ENST00000372126.3																			2	Substitution - Missense(1)|Substitution - coding silent(1)	p.I19M(1)|p.I19I(1)	prostate(1)|pancreas(1)	endometrium(1)|lung(1)|pancreas(1)|prostate(1)	4						c.(55-57)atC>atG		chromosome 10 open reading frame 99							215	169	185					10																	85933664		2203	4300	6503	SO:0001583	missense	387695					extracellular region		g.chr10:85933664C>G	AY358751	CCDS7371.1	10q23.2	2014-04-16			ENSG00000188373	ENSG00000188373			31428	protein-coding gene	gene with protein product						12975309	Standard	NM_207373		Approved	UNQ1833, RLLV1833, FLJ21763	uc001kcu.3	Q6UWK7	OTTHUMG00000018635	ENST00000372126.3:c.57C>G	10.37:g.85933664C>G	ENSP00000361199:p.Ile19Met						p.I19M	NM_207373.2	NP_997256.1	Q6UWK7	CJ099_HUMAN			1	171	+			19						Missense_Mutation	SNP	ENST00000372126.3	37	c.57C>G	CCDS7371.1	.	.	.	.	.	.	.	.	.	.	C	1.234	-0.623320	0.03636	.	.	ENSG00000188373	ENST00000372126	.	.	.	3.71	2.79	0.32731	.	.	.	.	.	T	0.29061	0.0722	.	.	.	0.09310	N	0.999998	P	0.39624	0.681	B	0.39419	0.299	T	0.16188	-1.0411	7	0.66056	D	0.02	.	6.4668	0.21985	0.0:0.8633:0.0:0.1367	.	19	Q6UWK7	CJ099_HUMAN	M	19	.	ENSP00000361199:I19M	I	+	3	3	C10orf99	85923644	0.819000	0.29175	0.328000	0.25416	0.374000	0.29953	1.809000	0.38922	1.102000	0.41551	0.650000	0.86243	ATC		0.547	C10orf99-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049114.1	NM_207373		25	251	0	0	0	0.681144	0	25	251					G	85933664	C	G	85933664	3	3	28	1	0	0	0	0	1	0	0	0	1628	903	32	5	59	5	C10orf99	10	85933664	Missense_Mutation	SNP	C	TCGA-CH-5762-01A-11D-1576-08	10674921	85933664	49601083	61	1386											
CNNM1	26507	broad.mit.edu	37	chr10	101120671	101120671	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttgtttaagctttcggacacGgagatgcgggtgaagatctc	9	12	13	7	3	1	3	0	1	1	2	3	5	1	4	0	3	2	2	0	3	2	4	rs61735150	byFrequency	TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr10:101120671G>A	ENST00000356713.4	+	3	2086	c.1797G>A	c.(1795-1797)acG>acA	p.T599T	CNNM1_ENST00000370534.4_Silent_p.T234T|CNNM1_ENST00000370528.3_Silent_p.T528T|CNNM1_ENST00000446890.1_Silent_p.T528T	NM_020348.2	NP_065081.2	Q9NRU3	CNNM1_HUMAN	cyclin and CBS domain divalent metal cation transport mediator 1	599					ion transport (GO:0006811)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	adenyl nucleotide binding (GO:0030554)			NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(5)|ovary(1)|prostate(1)|skin(1)	25		Colorectal(252;0.234)		Epithelial(162;6.82e-10)|all cancers(201;5.62e-08)		TTTCGGACACGGAGATGCGGG	0.542													G|||	20	0.00399361	0.0144	0.0014	5008	,	,		20089	0		0	False		,,,				2504	0					ENST00000356713.4																			0				NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(5)|ovary(1)|prostate(1)|skin(1)	25						c.(1795-1797)acG>acA		cyclin M1		G		86,4320	72.5+/-110.5	0,86,2117	117	111	113		1797	-11.5	0	10	dbSNP_129	113	0,8600		0,0,4300	no	coding-synonymous	CNNM1	NM_020348.2		0,86,6417	AA,AG,GG		0.0,1.9519,0.6612		599/952	101120671	86,12920	2203	4300	6503	SO:0001819	synonymous_variant	26507				ion transport	integral to membrane|plasma membrane		g.chr10:101120671G>A	AF169226	CCDS7478.2	10q24.2	2014-08-08	2014-08-07		ENSG00000119946	ENSG00000119946			102	protein-coding gene	gene with protein product		607802	"cyclin M1"	ACDP1		21393841	Standard	NM_020348		Approved		uc001kpp.4	Q9NRU3	OTTHUMG00000018881	ENST00000356713.4:c.1797G>A	10.37:g.101120671G>A						CNNM1_ENST00000370528.3_Silent_p.T528T|CNNM1_ENST00000370534.4_Silent_p.T234T|CNNM1_ENST00000446890.1_Silent_p.T528T	p.T599T	NM_020348.2	NP_065081.2	Q9NRU3	CNNM1_HUMAN		Epithelial(162;6.82e-10)|all cancers(201;5.62e-08)	3	2086	+		Colorectal(252;0.234)	599					Q4QQG7|Q4QQH8|Q4QQP9|Q9NT45	Silent	SNP	ENST00000356713.4	37	c.1797G>A	CCDS7478.2																																																																																				0.542	CNNM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049792.2	NM_020348		8	237	0	0	0	0.307466	0	8	237					A	101120671	G	A	101120671	2	1	28	1	0	0	0	0	0	0	0	1	3612	1103	39	2		2	CNNM1	10	101120671	Silent	SNP	G	TCGA-CH-5762-01A-11D-1576-08	15187007	101120671	34414076	62	1387											
SLC18A2	6571	broad.mit.edu	37	chr10	119003545	119003545	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaatgctacagaaatccagaCggccaggccagtgcacactg	13	5	11	12	1	0	2	0	0	0	2	1	3	1	2	3	2	3	2	3	2	3	1	rs140529367		TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr10:119003545C>G	ENST00000298472.5	+	3	328	c.185C>G	c.(184-186)aCg>aGg	p.T62R	RP11-501J20.5_ENST00000425264.1_RNA|SLC18A2_ENST00000497497.1_3'UTR	NM_003054.4	NP_003045.2	Q05940	VMAT2_HUMAN	solute carrier family 18 (vesicular monoamine transporter), member 2	62					aging (GO:0007568)|cellular response to ammonium ion (GO:0071242)|cellular response to drug (GO:0035690)|death (GO:0016265)|dopamine transport (GO:0015872)|endocytic recycling (GO:0032456)|glucose homeostasis (GO:0042593)|insulin secretion (GO:0030073)|locomotory behavior (GO:0007626)|monoamine transport (GO:0015844)|negative regulation of neurotransmitter transport (GO:0051589)|neurotransmitter loading into synaptic vesicle (GO:0098700)|neurotransmitter secretion (GO:0007269)|post-embryonic development (GO:0009791)|response to amphetamine (GO:0001975)|response to cocaine (GO:0042220)|response to corticosterone (GO:0051412)|response to herbicide (GO:0009635)|response to starvation (GO:0042594)|response to zinc ion (GO:0010043)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	clathrin-sculpted monoamine transport vesicle membrane (GO:0070083)|dense core granule (GO:0031045)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)|synaptic vesicle membrane (GO:0030672)|terminal bouton (GO:0043195)	amine transmembrane transporter activity (GO:0005275)|drug binding (GO:0008144)|monoamine transmembrane transporter activity (GO:0008504)|serotonin transmembrane transporter activity (GO:0015222)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)	29		Colorectal(252;0.19)		all cancers(201;0.029)	Amphetamine(DB00182)|Benzphetamine(DB00865)|Deserpidine(DB01089)|Dextroamphetamine(DB01576)|Ephedra(DB01363)|Ephedrine(DB01364)|Isometheptene(DB06706)|Methamphetamine(DB01577)|Norepinephrine(DB00368)|Propylhexedrine(DB06714)|Reserpine(DB00206)|Tetrabenazine(DB04844)	GAAATCCAGACGGCCAGGCCA	0.493																																						ENST00000298472.5																			0				NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)	29						c.(184-186)aCg>aGg		solute carrier family 18 (vesicular monoamine transporter), member 2	Alseroxylon(DB00386)|Reserpine(DB00206)|Tetrabenazine(DB04844)						85	74	78					10																	119003545		2203	4300	6503	SO:0001583	missense	6571				neurotransmitter secretion	clathrin sculpted monoamine transport vesicle membrane|integral to plasma membrane|membrane fraction	monoamine transmembrane transporter activity	g.chr10:119003545C>G	L14269	CCDS7599.1	10q25	2013-07-18	2013-07-18		ENSG00000165646	ENSG00000165646		"Solute carriers"	10935	protein-coding gene	gene with protein product		193001		VMAT2			Standard	NM_003054		Approved	SVMT, SVAT	uc001ldd.2	Q05940	OTTHUMG00000019121	ENST00000298472.5:c.185C>G	10.37:g.119003545C>G	ENSP00000298472:p.Thr62Arg					SLC18A2_ENST00000497497.1_3'UTR	p.T62R	NM_003054.4	NP_003045.2	Q05940	VMAT2_HUMAN		all cancers(201;0.029)	3	328	+		Colorectal(252;0.19)	62					B2RC96|D3DRC4|Q15876|Q4G147|Q5VW49|Q9H3P6	Missense_Mutation	SNP	ENST00000298472.5	37	c.185C>G	CCDS7599.1	.	.	.	.	.	.	.	.	.	.	C	1.910	-0.450872	0.04572	.	.	ENSG00000165646	ENST00000298472	T	0.03801	3.8	5.82	5.82	0.92795	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.268601	0.40640	N	0.001041	T	0.04679	0.0127	N	0.17379	0.485	0.40098	D	0.976339	B	0.17465	0.022	B	0.21917	0.037	T	0.52771	-0.8531	10	0.20046	T	0.44	-28.1579	18.2891	0.90123	0.0:1.0:0.0:0.0	.	62	Q05940	VMAT2_HUMAN	R	62	ENSP00000298472:T62R	ENSP00000298472:T62R	T	+	2	0	SLC18A2	118993535	0.997000	0.39634	0.961000	0.40146	0.036000	0.12997	3.803000	0.55560	2.756000	0.94617	0.563000	0.77884	ACG		0.493	SLC18A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050563.1	NM_003054		3	75	0	0	0	0.115264	0	3	75					G	119003545	C	G	119003545	3	3	28	1	0	0	0	0	1	0	0	0	14426	536	19	5	191	5	SLC18A2	10	119003545	Missense_Mutation	SNP	C	TCGA-CH-5762-01A-11D-1576-08	17882874	119003545	16531202	63	1388											
ACADSB	36	broad.mit.edu	37	chr10	124806813	124806813	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caaaagactatttgattttcAggtatgtaattattagggtc	13	16	8	4	0	1	2	1	1	0	1	2	2	1	2	0	2	0	2	0	2	7	8			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr10:124806813A>G	ENST00000358776.4	+	8	1003	c.989A>G	c.(988-990)cAg>cGg	p.Q330R	ACADSB_ENST00000368869.4_Splice_Site_p.Q228R	NM_001609.3	NP_001600.1	P45954	ACDSB_HUMAN	acyl-CoA dehydrogenase, short/branched chain	330					branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|fatty acid metabolic process (GO:0006631)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	acyl-CoA dehydrogenase activity (GO:0003995)|flavin adenine dinucleotide binding (GO:0050660)			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	17		all_neural(114;0.0765)|Colorectal(57;0.102)|all_lung(145;0.11)|Lung NSC(174;0.163)		Colorectal(40;0.0811)|COAD - Colon adenocarcinoma(40;0.0835)	L-Isoleucine(DB00167)|Valproic Acid(DB00313)	TTTGATTTTCAGGTATGTAAT	0.403																																						ENST00000358776.4																			0				breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	17						c.e8+1		acyl-CoA dehydrogenase, short/branched chain	L-Isoleucine(DB00167)						79	87	84					10																	124806813		2203	4300	6503	SO:0001630	splice_region_variant	36				branched chain family amino acid catabolic process|fatty acid metabolic process	mitochondrial matrix	flavin adenine dinucleotide binding	g.chr10:124806813A>G	U12778	CCDS7634.1	10q25-q26	2014-09-17	2010-04-30		ENSG00000196177	ENSG00000196177	1.3.99.-		91	protein-coding gene	gene with protein product		600301	"acyl-Coenzyme A dehydrogenase, short/branched chain"			7698750, 7759115	Standard	NM_001609		Approved	SBCAD, ACAD7	uc001lhb.3	P45954	OTTHUMG00000019200	ENST00000358776.4:c.990+1A>G	10.37:g.124806813A>G						ACADSB_ENST00000368869.4_Splice_Site_p.Q228_splice	p.Q330_splice	NM_001609.3	NP_001600.1	P45954	ACDSB_HUMAN		Colorectal(40;0.0811)|COAD - Colon adenocarcinoma(40;0.0835)	8	1003	+		all_neural(114;0.0765)|Colorectal(57;0.102)|all_lung(145;0.11)|Lung NSC(174;0.163)	330					B4DQ51|Q5SQN6|Q96CX7	Splice_Site	SNP	ENST00000358776.4	37	c.990_splice	CCDS7634.1	.	.	.	.	.	.	.	.	.	.	A	16.98	3.272664	0.59649	.	.	ENSG00000196177	ENST00000368869;ENST00000358776	D;D	0.97303	-4.33;-4.33	5.5	5.5	0.81552	Acyl-CoA dehydrogenase/oxidase C-terminal (2);Acyl-CoA oxidase/dehydrogenase, type 1 (1);	0.000000	0.85682	D	0.000000	D	0.99242	0.9736	H	0.99475	4.585	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98523	1.0624	10	0.87932	D	0	.	15.6089	0.76699	1.0:0.0:0.0:0.0	.	330	P45954	ACDSB_HUMAN	R	228;330	ENSP00000357862:Q228R;ENSP00000357873:Q330R	ENSP00000357873:Q330R	Q	+	2	0	ACADSB	124796803	1.000000	0.71417	1.000000	0.80357	0.046000	0.14306	8.716000	0.91420	2.082000	0.62665	0.528000	0.53228	CAG		0.403	ACADSB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050843.1	NM_001609	Missense_Mutation	3	103	0	0	0	0.115264	0	3	103					G	124806813	A	G	124806813	5	3	28	1	0	0	0	0	0	0	1	0	115	202	7	4	1019	4	ACADSB	10	124806813	Splice_Site	SNP	A	TCGA-CH-5762-01A-11D-1576-08	5803268	124806813	10727934	64	1389											
ASCL3	56676	broad.mit.edu	37	chr11	8959683	8959683	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taggaagtttgtcaggtagaCtagagttgcctctgttgtcc	8	14	12	7	0	2	2	1	0	1	2	3	3	3	3	2	2	1	4	2	2	4	6			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr11:8959683C>G	ENST00000531618.1	-	1	75	c.26G>C	c.(25-27)aGt>aCt	p.S9T	ASCL3_ENST00000325884.1_Missense_Mutation_p.S9T			Q9NQ33	ASCL3_HUMAN	achaete-scute family bHLH transcription factor 3	8					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)			breast(1)|large_intestine(2)|lung(5)|stomach(1)	9				Epithelial(150;1.48e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0228)		GTCAGGTAGACTAGAGTTGCC	0.463																																						ENST00000325884.1																			0				breast(1)|large_intestine(2)|lung(5)|stomach(1)	9						c.(25-27)aGt>aCt		achaete-scute family bHLH transcription factor 3							171	184	180					11																	8959683		2201	4295	6496	SO:0001583	missense	56676				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleolus	DNA binding	g.chr11:8959683C>G	AJ400877	CCDS7795.1	11p15.3	2013-10-17	2013-10-17			ENSG00000176009		"Basic helix-loop-helix proteins"	740	protein-coding gene	gene with protein product		609154	"achaete-scute complex (Drosophila) homolog-like 3", "achaete-scute complex homolog 3 (Drosophila)"			11528127	Standard	NM_020646		Approved	bHLHa42, HASH3, Sgn1	uc001mhd.1	Q9NQ33	OTTHUMG00000165679	ENST00000531618.1:c.26G>C	11.37:g.8959683C>G	ENSP00000435770:p.Ser9Thr					ASCL3_ENST00000531618.1_Missense_Mutation_p.S9T	p.S9T	NM_020646.1	NP_065697.1	Q9NQ33	ASCL3_HUMAN		Epithelial(150;1.48e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0228)	2	85	-			8					Q8WYQ6	Missense_Mutation	SNP	ENST00000531618.1	37	c.26G>C	CCDS7795.1	.	.	.	.	.	.	.	.	.	.	C	5.024	0.190026	0.09547	.	.	ENSG00000176009	ENST00000325884;ENST00000531618	D;D	0.97430	-4.38;-4.38	5.96	-0.327	0.12694	.	0.996520	0.08136	N	0.992356	D	0.91570	0.7337	N	0.19112	0.55	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.81976	-0.0686	10	0.32370	T	0.25	-0.8977	5.3389	0.15973	0.0:0.3024:0.1413:0.5562	.	8	Q9NQ33	ASCL3_HUMAN	T	9	ENSP00000318846:S9T;ENSP00000435770:S9T	ENSP00000318846:S9T	S	-	2	0	ASCL3	8916259	0.910000	0.30920	0.000000	0.03702	0.013000	0.08279	0.558000	0.23469	-0.289000	0.09038	-0.312000	0.09012	AGT		0.463	ASCL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385773.1			5	346	0	0	0	0.184627	0	5	346					G	8959683	C	G	8959683	3	3	28	1	0	0	0	0	1	0	0	0	1035	565	20	5	523	5	ASCL3	11	8959683	Missense_Mutation	SNP	C	TCGA-CH-5762-01A-11D-1576-08		8959683	126046833	65	1390											
TTC17	55761	broad.mit.edu	37	chr11	43418961	43418961	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acagagcacacttctctgctGatgctgctgtcgtggtccat	7	12	10	12	1	1	2	0	1	1	1	4	2	2	2	1	1	4	4	1	1	0	1			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr11:43418961G>C	ENST00000039989.4	+	7	852	c.838G>C	c.(838-840)Gat>Cat	p.D280H	RP11-484D2.4_ENST00000394183.2_RNA|TTC17_ENST00000299240.6_Missense_Mutation_p.D280H|TTC17_ENST00000526774.1_3'UTR	NM_018259.5	NP_060729.2	Q96AE7	TTC17_HUMAN	tetratricopeptide repeat domain 17	280					actin filament polymerization (GO:0030041)|cilium organization (GO:0044782)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)				breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(27)|ovary(5)|prostate(3)|skin(3)	53						CTTCTCTGCTGATGCTGCTGT	0.438																																						ENST00000039989.4																			0				breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(27)|ovary(5)|prostate(3)|skin(3)	53						c.(838-840)Gat>Cat		tetratricopeptide repeat domain 17							233	197	209					11																	43418961		2203	4300	6503	SO:0001583	missense	55761						binding	g.chr11:43418961G>C	AK001540	CCDS31466.1	11p11.2	2013-01-10			ENSG00000052841	ENSG00000052841		"Tetratricopeptide (TTC) repeat domain containing"	25596	protein-coding gene	gene with protein product						12477932	Standard	NM_018259		Approved	FLJ10890	uc001mxi.3	Q96AE7	OTTHUMG00000166398	ENST00000039989.4:c.838G>C	11.37:g.43418961G>C	ENSP00000039989:p.Asp280His					TTC17_ENST00000526774.1_3'UTR|TTC17_ENST00000299240.6_Missense_Mutation_p.D280H	p.D280H	NM_018259.5	NP_060729.2	Q96AE7	TTC17_HUMAN			7	852	+			280					G3XAB3|Q8NEC0	Missense_Mutation	SNP	ENST00000039989.4	37	c.838G>C	CCDS31466.1	.	.	.	.	.	.	.	.	.	.	G	33	5.253126	0.95336	.	.	ENSG00000052841	ENST00000299240;ENST00000039989	T;T	0.55413	0.52;0.52	5.92	5.92	0.95590	Tetratricopeptide-like helical (1);	0.000000	0.85682	D	0.000000	T	0.75347	0.3837	M	0.78456	2.415	0.80722	D	1	D;D;D	0.89917	1.0;0.995;1.0	D;D;D	0.80764	0.99;0.992;0.994	T	0.76085	-0.3088	10	0.66056	D	0.02	-21.3082	20.3206	0.98668	0.0:0.0:1.0:0.0	.	280;280;280	Q8NEC0;Q96AE7;G3XAB3	.;TTC17_HUMAN;.	H	280	ENSP00000299240:D280H;ENSP00000039989:D280H	ENSP00000039989:D280H	D	+	1	0	TTC17	43375537	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.476000	0.97823	2.809000	0.96659	0.655000	0.94253	GAT		0.438	TTC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389577.2	NM_018259		11	445	0	0	0	0.38729	0	11	445					C	43418961	G	C	43418961	3	2	28	1	0	0	0	0	1	0	0	0	16681	1290	45	5	864	5	TTC17	11	43418961	Missense_Mutation	SNP	G	TCGA-CH-5762-01A-11D-1576-08	34459278	43418961	91587555	66	1391											
OR4S2	219431	broad.mit.edu	37	chr11	55418545	55418545	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tgagcaacctgtttaagtcaCccatgtatttctttctcagc	9	15	6	11	0	3	1	2	1	2	0	4	1	3	1	2	0	3	3	2	0	3	5			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr11:55418545C>G	ENST00000312422.2	+	1	166	c.166C>G	c.(166-168)Ccc>Gcc	p.P56A		NM_001004059.2	NP_001004059.2	Q8NH73	OR4S2_HUMAN	olfactory receptor, family 4, subfamily S, member 2	56						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(2)|large_intestine(4)|lung(28)|ovary(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_epithelial(135;0.0748)				GTTTAAGTCACCCATGTATTT	0.393																																						ENST00000312422.2																			0				endometrium(1)|kidney(2)|large_intestine(4)|lung(28)|ovary(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						c.(166-168)Ccc>Gcc		olfactory receptor, family 4, subfamily S, member 2							243	192	210					11																	55418545		2181	4046	6227	SO:0001583	missense	219431				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55418545C>G	BK004390	CCDS31505.1	11q11	2012-08-09	2002-11-13	2002-11-15	ENSG00000174982	ENSG00000174982		"GPCR / Class A : Olfactory receptors"	15183	protein-coding gene	gene with protein product			"olfactory receptor, family 4, subfamily S, member 2 pseudogene"	OR4S2P			Standard	NM_001004059		Approved	OST725	uc001nhs.1	Q8NH73	OTTHUMG00000166799	ENST00000312422.2:c.166C>G	11.37:g.55418545C>G	ENSP00000310337:p.Pro56Ala						p.P56A	NM_001004059.2	NP_001004059.2	Q8NH73	OR4S2_HUMAN			1	166	+		all_epithelial(135;0.0748)	56					Q6IF72	Missense_Mutation	SNP	ENST00000312422.2	37	c.166C>G	CCDS31505.1	.	.	.	.	.	.	.	.	.	.	C	16.27	3.077149	0.55753	.	.	ENSG00000174982	ENST00000312422	T	0.02015	4.5	5.36	5.36	0.76844	GPCR, rhodopsin-like superfamily (1);	0.000000	0.52532	D	0.000063	T	0.18509	0.0444	M	0.91872	3.25	0.58432	D	0.999992	D	0.89917	1.0	D	0.91635	0.999	T	0.01378	-1.1370	10	0.72032	D	0.01	.	17.6575	0.88182	0.0:1.0:0.0:0.0	.	56	Q8NH73	OR4S2_HUMAN	A	56	ENSP00000310337:P56A	ENSP00000310337:P56A	P	+	1	0	OR4S2	55175121	1.000000	0.71417	0.887000	0.34795	0.119000	0.20118	6.636000	0.74299	2.512000	0.84698	0.549000	0.68633	CCC		0.393	OR4S2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391503.1	NM_001004059		7	488	0	0	0	0.248553	0	7	488					G	55418545	C	G	55418545	3	3	28	1	0	0	0	0	1	0	0	0	11083	507	18	5	168	5	OR4S2	11	55418545	Missense_Mutation	SNP	C	TCGA-CH-5762-01A-11D-1576-08	11999584	55418545	79587971	67	1392											
NPAS4	266743	broad.mit.edu	37	chr11	66192368	66192368	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaggactggagcccctggaCtccaacctgtccctgtcagg	7	7	13	14	0	1	0	1	0	0	0	3	4	3	4	5	5	2	0	5	5	1	0			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr11:66192368C>T	ENST00000311034.2	+	7	2183	c.2007C>T	c.(2005-2007)gaC>gaT	p.D669D		NM_178864.3	NP_849195.2	Q8IUM7	NPAS4_HUMAN	neuronal PAS domain protein 4	669					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|signal transducer activity (GO:0004871)	p.D669D(1)		breast(4)|endometrium(2)|kidney(3)|large_intestine(11)|liver(2)|lung(20)|ovary(1)|prostate(3)|skin(3)	49						AGCCCCTGGACTCCAACCTGT	0.607																																						ENST00000311034.2																			1	Substitution - coding silent(1)	p.D669D(1)	prostate(1)	breast(4)|endometrium(2)|kidney(3)|large_intestine(11)|liver(2)|lung(20)|ovary(1)|prostate(3)|skin(3)	49						c.(2005-2007)gaC>gaT		neuronal PAS domain protein 4							87	93	91					11																	66192368		2200	4295	6495	SO:0001819	synonymous_variant	266743				transcription, DNA-dependent		DNA binding|signal transducer activity	g.chr11:66192368C>T	AB049469	CCDS8138.1	11q13.2	2013-05-21			ENSG00000174576	ENSG00000174576		"Basic helix-loop-helix proteins"	18983	protein-coding gene	gene with protein product		608554				14701734	Standard	NM_178864		Approved	PASD10, NXF, Le-PAS, bHLHe79	uc001ohx.1	Q8IUM7	OTTHUMG00000167045	ENST00000311034.2:c.2007C>T	11.37:g.66192368C>T							p.D669D	NM_178864.3	NP_849195.2	Q8IUM7	NPAS4_HUMAN			7	2183	+			669					B7ZL81|Q8N8S5|Q8N9Q9	Silent	SNP	ENST00000311034.2	37	c.2007C>T	CCDS8138.1																																																																																				0.607	NPAS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392634.1	NM_178864		46	269	0	0	0	0.870114	0	46	269					T	66192368	C	T	66192368	2	4	28	1	0	0	0	0	0	0	0	1	10565	564	20	3		3	NPAS4	11	66192368	Silent	SNP	C	TCGA-CH-5762-01A-11D-1576-08	10773823	66192368	68814148	68	1393											
LRFN4	78999	broad.mit.edu	37	chr11	66627358	66627358	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggctgccttactggtcttcActgtggccttgctggttcgg	2	15	13	11	1	2	0	1	0	1	0	3	0	2	0	2	5	3	3	2	5	1	4			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr11:66627358A>C	ENST00000309602.4	+	2	1843	c.1600A>C	c.(1600-1602)Act>Cct	p.T534P	PC_ENST00000393955.2_Intron|PC_ENST00000393958.2_Intron|LRFN4_ENST00000393952.3_Intron|PC_ENST00000393960.1_Intron	NM_024036.4	NP_076941.2	Q6PJG9	LRFN4_HUMAN	leucine rich repeat and fibronectin type III domain containing 4	534						integral component of membrane (GO:0016021)		p.T534P(1)		breast(1)|lung(1)|prostate(1)	3						ACTGGTCTTCACTGTGGCCTT	0.721																																						ENST00000309602.4																			1	Substitution - Missense(1)	p.T534P(1)	prostate(1)	breast(1)|lung(1)|prostate(1)	3						c.(1600-1602)Act>Cct		leucine rich repeat and fibronectin type III domain containing 4							36	29	31					11																	66627358		2190	4283	6473	SO:0001583	missense	78999					integral to membrane		g.chr11:66627358A>C	BC007718	CCDS8153.1	11q13.1	2013-02-11				ENSG00000173621		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	28456	protein-coding gene	gene with protein product	"fibronectin type III, immunoglobulin and leucine rich repeat domains 6"	612810				16495444, 16828986	Standard	NM_024036		Approved	MGC3103, SALM3., FIGLER6	uc001ojr.3	Q6PJG9		ENST00000309602.4:c.1600A>C	11.37:g.66627358A>C	ENSP00000312535:p.Thr534Pro					PC_ENST00000393960.1_Intron|PC_ENST00000393955.2_Intron|PC_ENST00000393958.2_Intron|LRFN4_ENST00000393952.3_Intron	p.T534P	NM_024036.4	NP_076941.2	Q6PJG9	LRFN4_HUMAN			2	1843	+			534					Q4VBZ3|Q59GV4|Q8N644|Q9BWJ0	Missense_Mutation	SNP	ENST00000309602.4	37	c.1600A>C	CCDS8153.1	.	.	.	.	.	.	.	.	.	.	A	27.1	4.801190	0.90538	.	.	ENSG00000173621	ENST00000309602	T	0.52057	0.68	4.79	4.79	0.61399	.	0.399801	0.18584	N	0.136948	T	0.52837	0.1759	L	0.29908	0.895	0.80722	D	1	D	0.64830	0.994	P	0.61201	0.885	T	0.54873	-0.8228	10	0.62326	D	0.03	.	12.2823	0.54771	1.0:0.0:0.0:0.0	.	534	Q6PJG9	LRFN4_HUMAN	P	534	ENSP00000312535:T534P	ENSP00000312535:T534P	T	+	1	0	LRFN4	66383934	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.353000	0.79414	1.799000	0.52666	0.379000	0.24179	ACT		0.721	LRFN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393127.1	NM_024036		7	27	0	0	0	0.27861	0	7	27					C	66627358	A	C	66627358	3	2	28	1	0	0	0	0	1	0	0	0	8940	159	6	5	1606	5	LRFN4	11	66627358	Missense_Mutation	SNP	A	TCGA-CH-5762-01A-11D-1576-08	434990	66627358	68379158	69	1394											
USP35	57558	broad.mit.edu	37	chr11	77911274	77911274	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cagcactcccacgaagccttCcacctggtaaggtcccctgc	8	7	8	18	1	0	0	0	0	0	0	3	1	3	0	6	2	3	2	6	2	2	2			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr11:77911274C>T	ENST00000529308.1	+	5	1293	c.1032C>T	c.(1030-1032)ttC>ttT	p.F344F	USP35_ENST00000530267.1_Intron|USP35_ENST00000530535.1_Intron|USP35_ENST00000526425.1_Silent_p.F75F|USP35_ENST00000441408.2_5'UTR	NM_020798.2	NP_065849.1	Q9P2H5	UBP35_HUMAN	ubiquitin specific peptidase 35	344					protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitin-specific protease activity (GO:0004843)	p.F344F(1)|p.F100F(1)		endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(3)|urinary_tract(1)	23	all_cancers(14;3.77e-18)|all_epithelial(13;6.16e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.04e-25)			ACGAAGCCTTCCACCTGGTAA	0.627																																						ENST00000529308.1																			2	Substitution - coding silent(2)	p.F344F(1)|p.F100F(1)	prostate(2)	endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(3)|urinary_tract(1)	23						c.(1030-1032)ttC>ttT		ubiquitin specific peptidase 35							67	67	67					11																	77911274		1979	4149	6128	SO:0001819	synonymous_variant	57558				ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr11:77911274C>T	AB037793	CCDS41693.1	11q13.4	2008-02-05	2005-08-08			ENSG00000118369		"Ubiquitin-specific peptidases"	20061	protein-coding gene	gene with protein product			"ubiquitin specific protease 35"			12838346	Standard	NM_020798		Approved	KIAA1372	uc021qny.1	Q9P2H5		ENST00000529308.1:c.1032C>T	11.37:g.77911274C>T						USP35_ENST00000530267.1_Intron|USP35_ENST00000530535.1_Intron|USP35_ENST00000526425.1_Silent_p.F75F|USP35_ENST00000441408.2_5'UTR	p.F344F	NM_020798.2	NP_065849.1	Q9P2H5	UBP35_HUMAN	OV - Ovarian serous cystadenocarcinoma(8;1.04e-25)		5	1293	+	all_cancers(14;3.77e-18)|all_epithelial(13;6.16e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		344						Silent	SNP	ENST00000529308.1	37	c.1032C>T	CCDS41693.1																																																																																				0.627	USP35-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390026.1	XM_290527		12	82	0	0	0	0.435327	0	12	82					T	77911274	C	T	77911274	2	4	28	1	0	0	0	0	0	0	0	1	17063	854	30	3		3	USP35	11	77911274	Silent	SNP	C	TCGA-CH-5762-01A-11D-1576-08	11283916	77911274	57095242	70	1395											
ATM	472	broad.mit.edu	37	chr11	108170450	108170450	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	tctatatgtagaggctgttgGaagctgcttgggagaagtgg	9	12	16	4	0	1	2	0	0	1	2	1	4	1	3	0	4	2	5	0	4	5	5			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr11:108170450G>C	ENST00000452508.2	+	35	5204	c.5015G>C	c.(5014-5016)gGa>gCa	p.G1672A	ATM_ENST00000278616.4_Missense_Mutation_p.G1672A			Q13315	ATM_HUMAN	ATM serine/threonine kinase	1672					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|DNA damage induced protein phosphorylation (GO:0006975)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|heart development (GO:0007507)|histone mRNA catabolic process (GO:0071044)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|lipoprotein catabolic process (GO:0042159)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of B cell proliferation (GO:0030889)|neuron apoptotic process (GO:0051402)|oocyte development (GO:0048599)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of neuron apoptotic process (GO:0043525)|pre-B cell allelic exclusion (GO:0002331)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reciprocal meiotic recombination (GO:0007131)|replicative senescence (GO:0090399)|response to hypoxia (GO:0001666)|response to ionizing radiation (GO:0010212)|signal transduction (GO:0007165)|signal transduction involved in mitotic G2 DNA damage checkpoint (GO:0072434)|somitogenesis (GO:0001756)|telomere maintenance (GO:0000723)	cytoplasmic vesicle (GO:0031410)|nucleoplasm (GO:0005654)|spindle (GO:0005819)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|histone serine kinase activity (GO:0035174)|protein complex binding (GO:0032403)|protein dimerization activity (GO:0046983)|protein N-terminus binding (GO:0047485)|protein serine/threonine kinase activity (GO:0004674)	p.G1672A(2)		NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	Caffeine(DB00201)	GAGGCTGTTGGAAGCTGCTTG	0.333			"D, Mis, N, F, S"		T-PLL	"leukemia, lymphoma, medulloblastoma, glioma"		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)																												ENST00000278616.4			yes	Rec	yes	Ataxia-telangiectasia	11	11q22.3	472	"D, Mis, N, F, S"	ataxia telangiectasia mutated			"L, O"		"leukemia, lymphoma, medulloblastoma, glioma"	T-PLL		2	Substitution - Missense(2)	p.G1672A(2)	prostate(2)	NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448						c.(5014-5016)gGa>gCa	Genes defective in diseases associated with sensitivity to DNA damaging agents	ataxia telangiectasia mutated							100	108	105					11																	108170450		2201	4298	6499	SO:0001583	missense	472	Ataxia Telangiectasia	Familial Cancer Database	AT, Louis-Bar syndrome	cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding	g.chr11:108170450G>C	AB209133	CCDS31669.1	11q22-q23	2014-09-17	2014-06-17		ENSG00000149311	ENSG00000149311			795	protein-coding gene	gene with protein product	"TEL1, telomere maintenance 1, homolog (S. cerevisiae)"	607585	"ataxia telangiectasia mutated (includes complementation groups A, C and D)", "ataxia telangiectasia mutated"	ATA, ATDC, ATC, ATD			Standard	XM_005271561		Approved	TEL1, TELO1	uc001pkb.1	Q13315	OTTHUMG00000166480	ENST00000452508.2:c.5015G>C	11.37:g.108170450G>C	ENSP00000388058:p.Gly1672Ala	TSP Lung(14;0.12)				ATM_ENST00000452508.2_Missense_Mutation_p.G1672A	p.G1672A	NM_000051.3	NP_000042.3	Q13315	ATM_HUMAN		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	34	5400	+		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)	1672					B2RNX5|O15429|Q12758|Q16551|Q93007|Q9NP02|Q9UCX7	Missense_Mutation	SNP	ENST00000452508.2	37	c.5015G>C	CCDS31669.1	.	.	.	.	.	.	.	.	.	.	G	15.74	2.921587	0.52653	.	.	ENSG00000149311	ENST00000278616;ENST00000452508	T;T	0.71103	-0.54;-0.54	5.47	4.54	0.55810	Armadillo-type fold (1);	0.048152	0.85682	N	0.000000	T	0.64929	0.2643	L	0.60455	1.87	0.51767	D	0.999939	B	0.32467	0.372	B	0.27715	0.082	T	0.61667	-0.7016	10	0.20519	T	0.43	.	16.0856	0.81045	0.0:0.1343:0.8657:0.0	.	1672	Q13315	ATM_HUMAN	A	1672	ENSP00000278616:G1672A;ENSP00000388058:G1672A	ENSP00000278616:G1672A	G	+	2	0	ATM	107675660	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.124000	0.77185	1.264000	0.44198	0.650000	0.86243	GGA		0.333	ATM-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389938.1	NM_000051		30	209	0	0	0	0.788014	0	30	209					C	108170450	G	C	108170450	3	2	28	1	0	0	0	0	1	0	0	0	1109	1174	41	5	5145	5	ATM	11	108170450	Missense_Mutation	SNP	G	TCGA-CH-5762-01A-11D-1576-08	30259176	108170450	26836066	71	1396											
TAS2R46	259292	broad.mit.edu	37	chr12	11214315	11214315	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cagattaacagcagaaaagaTatcagggtcagagtgaaggg	17	6	13	5	0	2	5	2	1	0	4	2	5	2	5	0	2	2	1	0	2	5	2			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr12:11214315T>A	ENST00000533467.1	-	1	578	c.579A>T	c.(577-579)atA>atT	p.I193I	PRR4_ENST00000536668.1_Intron|TAS2R14_ENST00000381852.4_Intron	NM_176887.2	NP_795368.2	P59540	T2R46_HUMAN	taste receptor, type 2, member 46	193					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)	cilium (GO:0005929)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)	p.I193I(2)		endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	12			OV - Ovarian serous cystadenocarcinoma(49;0.0344)	BRCA - Breast invasive adenocarcinoma(232;0.196)		GCAGAAAAGATATCAGGGTCA	0.413																																						ENST00000533467.1																			2	Substitution - coding silent(2)	p.I193I(2)	prostate(2)	endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	12						c.(577-579)atA>atT		taste receptor, type 2, member 46							178	183	181					12																	11214315		2203	4300	6503	SO:0001819	synonymous_variant	259292				sensory perception of taste	cilium membrane|integral to membrane	G-protein coupled receptor activity	g.chr12:11214315T>A	AF494227	CCDS53748.1	12p13.2	2012-08-22				ENSG00000226761		"Taste receptors / Type 2", "GPCR / Unclassified : Taste receptors"	18877	protein-coding gene	gene with protein product		612774				12379855	Standard	NM_176887		Approved	T2R54	uc001qzp.1	P59540		ENST00000533467.1:c.579A>T	12.37:g.11214315T>A						PRR4_ENST00000536668.1_Intron|TAS2R14_ENST00000381852.4_Intron	p.I193I	NM_176887.2	NP_795368.2	P59540	T2R46_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;0.0344)	BRCA - Breast invasive adenocarcinoma(232;0.196)	1	578	-			193					P59548|Q645X6	Silent	SNP	ENST00000533467.1	37	c.579A>T	CCDS53748.1																																																																																				0.413	TAS2R46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383559.1	NM_176887		39	231	0	0	0	0.804634	0	39	231					A	11214315	T	A	11214315	2	1	28	1	0	0	0	0	0	0	0	1	15579	1396	49	5		5	TAS2R46	12	11214315	Silent	SNP	T	TCGA-CH-5762-01A-11D-1576-08		11214315	122637580	72	1397											
RERGL	79785	broad.mit.edu	37	chr12	18237549	18237549	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	atgtcatacacaataacaaaCccatctgcccagtgaagctc	15	8	5	13	0	2	1	1	1	1	0	3	1	2	1	2	0	5	1	2	0	5	2	rs201085120		TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr12:18237549C>A	ENST00000229002.2	-	5	443	c.237G>T	c.(235-237)ggG>ggT	p.G79G	RERGL_ENST00000538724.1_Silent_p.G78G|RERGL_ENST00000541632.1_5'UTR|RERGL_ENST00000536890.1_Intron	NM_024730.2	NP_079006.1	Q9H628	RERGL_HUMAN	RERG/RAS-like	79	Small GTPase-like.				GTP catabolic process (GO:0006184)|small GTPase mediated signal transduction (GO:0007264)	membrane (GO:0016020)	GTP binding (GO:0005525)			endometrium(1)|large_intestine(5)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	17						CAATAACAAACCCATCTGCCC	0.408																																						ENST00000229002.2																			0				endometrium(1)|large_intestine(5)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	17						c.(235-237)ggG>ggT		RERG/RAS-like							146	140	142					12																	18237549		2203	4300	6503	SO:0001819	synonymous_variant	79785				signal transduction	membrane	GTP binding|GTPase activity	g.chr12:18237549C>A	AK026308	CCDS8679.1, CCDS66332.1	12p12.3	2014-08-12			ENSG00000111404	ENSG00000111404			26213	protein-coding gene	gene with protein product						24127187	Standard	NM_001286201		Approved	FLJ22655	uc001rdq.3	Q9H628	OTTHUMG00000168820	ENST00000229002.2:c.237G>T	12.37:g.18237549C>A						RERGL_ENST00000541632.1_5'UTR|RERGL_ENST00000536890.1_Intron|RERGL_ENST00000538724.1_Silent_p.G78G	p.G79G	NM_024730.2	NP_079006.1	Q9H628	RERGL_HUMAN			5	443	-			79			Small GTPase-like.			Silent	SNP	ENST00000229002.2	37	c.237G>T	CCDS8679.1																																																																																				0.408	RERGL-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000401198.1	NM_024730		6	235	1	0	0.00116845	0.217242	0.00126448	6	235					A	18237549	C	A	18237549	2	1	28	1	0	0	0	0	0	0	0	1	13233	494	18	5		5	RERGL	12	18237549	Silent	SNP	C	TCGA-CH-5762-01A-11D-1576-08	7023234	18237549	115614346	73	1398											
CASC1	55259	broad.mit.edu	37	chr12	25264722	25264722	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttgccttattgtttataataAcataaaaatgagagtgtcta	15	16	6	4	0	1	1	0	1	1	1	1	2	1	1	1	0	2	1	1	0	8	9			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr12:25264722A>C	ENST00000320267.9	-	13	1826	c.1745T>G	c.(1744-1746)gTt>gGt	p.V582G	CASC1_ENST00000354189.5_Missense_Mutation_p.V646G|CASC1_ENST00000395990.2_Missense_Mutation_p.V542G|CASC1_ENST00000557684.1_5'Flank|CASC1_ENST00000537577.1_Missense_Mutation_p.V470G|CASC1_ENST00000545133.1_Missense_Mutation_p.V523G|CASC1_ENST00000395987.3_Missense_Mutation_p.V588G	NM_001082973.1	NP_001076442	Q6TDU7	CASC1_HUMAN	cancer susceptibility candidate 1	582										breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(3)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31	Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Melanoma(3;0.0301)|Colorectal(261;0.11)		OV - Ovarian serous cystadenocarcinoma(3;7.42e-20)|Epithelial(3;7.58e-16)|all cancers(3;1.07e-13)			GTTTATAATAACATAAAAATG	0.279																																						ENST00000354189.5																			0				breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(3)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31						c.(1936-1938)gTt>gGt		cancer susceptibility candidate 1							52	56	55					12																	25264722		2202	4295	6497	SO:0001583	missense	55259							g.chr12:25264722A>C	AK093102	CCDS31759.2, CCDS41762.1, CCDS41763.1, CCDS55810.1, CCDS55811.1	12p12.1	2012-04-17			ENSG00000118307	ENSG00000118307		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	29599	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 54"					14583591	Standard	NM_018272		Approved	LAS1, FLJ10921, PPP1R54	uc001rgk.3	Q6TDU7	OTTHUMG00000150195	ENST00000320267.9:c.1745T>G	12.37:g.25264722A>C	ENSP00000313141:p.Val582Gly					CASC1_ENST00000545133.1_Missense_Mutation_p.V523G|CASC1_ENST00000537577.1_Missense_Mutation_p.V470G|CASC1_ENST00000395987.3_Missense_Mutation_p.V588G|CASC1_ENST00000395990.2_Missense_Mutation_p.V542G|CASC1_ENST00000320267.9_Missense_Mutation_p.V582G	p.V646G	NM_001082972.1	NP_001076441.1	Q6TDU7	CASC1_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;7.42e-20)|Epithelial(3;7.58e-16)|all cancers(3;1.07e-13)		14	1972	-	Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Melanoma(3;0.0301)|Colorectal(261;0.11)		582					B4DNP2|F5H6T6|Q17RL2|Q4G171|Q5U5K5|Q9NV50	Missense_Mutation	SNP	ENST00000320267.9	37	c.1937T>G	CCDS41762.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	13.52|13.52	2.260250|2.260250	0.39995|0.39995	.|.	.|.	ENSG00000118307|ENSG00000118307	ENST00000556006|ENST00000354189;ENST00000395987;ENST00000320267;ENST00000395990;ENST00000537577;ENST00000545133;ENST00000389246	.|T;T;T;T;T	.|0.57273	.|0.41;1.08;1.08;0.5;0.51	5.09|5.09	5.09|5.09	0.68999|0.68999	.|.	.|5.970640	.|0.00780	.|N	.|0.001273	T|T	0.77301|0.77301	0.4110|0.4110	M|M	0.77103|0.77103	2.36|2.36	0.80722|0.80722	D|D	1|1	.|D;D;D;D;D	.|0.89917	.|1.0;1.0;1.0;1.0;1.0	.|D;D;D;D;D	.|0.91635	.|0.999;0.999;0.999;0.997;0.999	T|T	0.56032|0.56032	-0.8046|-0.8046	5|10	.|0.51188	.|T	.|0.08	-0.2726|-0.2726	12.8988|12.8988	0.58113|0.58113	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|470;523;646;582;588	.|F5H555;F5H6T6;Q6TDU7-3;Q6TDU7;F8W8F9	.|.;.;.;CASC1_HUMAN;.	W|G	418|646;588;582;542;470;523;392	.|ENSP00000346126:V646G;ENSP00000379310:V588G;ENSP00000313141:V582G;ENSP00000379313:V542G;ENSP00000437373:V523G	.|ENSP00000313141:V582G	C|V	-|-	3|2	2|0	CASC1|CASC1	25155989|25155989	0.996000|0.996000	0.38824|0.38824	0.911000|0.911000	0.35937|0.35937	0.127000|0.127000	0.20565|0.20565	4.177000|4.177000	0.58276|0.58276	2.054000|2.054000	0.61138|0.61138	0.528000|0.528000	0.53228|0.53228	TGT|GTT		0.279	CASC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000316761.1	NM_018272		5	140	0	0	0	0.184627	0	5	140					C	25264722	A	C	25264722	3	2	28	1	0	0	0	0	1	0	0	0	2660	43	2	5	417	5	CASC1	12	25264722	Missense_Mutation	SNP	A	TCGA-CH-5762-01A-11D-1576-08	7027173	25264722	108587173	74	1399											
IPO8	10526	broad.mit.edu	37	chr12	30818715	30818715	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	catgcagggctccatctttcTtcctagggtcaaagttcggg	7	12	11	11	1	3	0	1	0	2	0	6	0	5	0	2	3	1	3	2	3	2	4			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr12:30818715T>A	ENST00000256079.4	-	12	1624	c.1286A>T	c.(1285-1287)aAg>aTg	p.K429M	IPO8_ENST00000544829.1_Missense_Mutation_p.K224M	NM_006390.3	NP_006381.2	O15397	IPO8_HUMAN	importin 8	429					intracellular protein transport (GO:0006886)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	Ran GTPase binding (GO:0008536)	p.K429M(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(16)|liver(1)|lung(22)|prostate(2)|skin(2)|urinary_tract(2)	52	all_lung(12;6.66e-10)|Lung NSC(12;4.84e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)					TCCATCTTTCTTCCTAGGGTC	0.358																																						ENST00000256079.4																			1	Substitution - Missense(1)	p.K429M(1)	prostate(1)	breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(16)|liver(1)|lung(22)|prostate(2)|skin(2)|urinary_tract(2)	52						c.(1285-1287)aAg>aTg		importin 8							101	104	103					12																	30818715		2203	4300	6503	SO:0001583	missense	10526				intracellular protein transport|signal transduction	cytoplasm|nucleus	protein transporter activity|Ran GTPase binding	g.chr12:30818715T>A	U77494	CCDS8719.1, CCDS53773.1	12p11.21	2011-05-23	2003-03-11	2003-03-14	ENSG00000133704	ENSG00000133704		"Importins"	9853	protein-coding gene	gene with protein product		605600	"RAN binding protein 8"	RANBP8		9214382	Standard	NM_006390		Approved	IMP8	uc001rjd.3	O15397	OTTHUMG00000169172	ENST00000256079.4:c.1286A>T	12.37:g.30818715T>A	ENSP00000256079:p.Lys429Met					IPO8_ENST00000544829.1_Missense_Mutation_p.K224M	p.K429M	NM_006390.3	NP_006381.2	O15397	IPO8_HUMAN			12	1624	-	all_lung(12;6.66e-10)|Lung NSC(12;4.84e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)		429					B7Z7M3	Missense_Mutation	SNP	ENST00000256079.4	37	c.1286A>T	CCDS8719.1	.	.	.	.	.	.	.	.	.	.	T	18.49	3.636369	0.67130	.	.	ENSG00000133704	ENST00000256079;ENST00000544829	T;T	0.67171	-0.25;-0.25	4.62	4.62	0.57501	Armadillo-like helical (1);Armadillo-type fold (1);Exportin/Importin, Cse1-like (1);	0.092714	0.85682	D	0.000000	T	0.79064	0.4383	M	0.66939	2.045	0.42102	D	0.991344	D;D	0.71674	0.998;0.998	D;D	0.70016	0.95;0.967	T	0.81697	-0.0815	10	0.62326	D	0.03	-25.6349	14.4591	0.67438	0.0:0.0:0.0:1.0	.	224;429	B7Z7M3;O15397	.;IPO8_HUMAN	M	429;224	ENSP00000256079:K429M;ENSP00000444520:K224M	ENSP00000256079:K429M	K	-	2	0	IPO8	30709982	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.742000	0.47434	2.064000	0.61679	0.477000	0.44152	AAG		0.358	IPO8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402700.2	NM_006390		22	134	0	0	0	0.654019	0	22	134					A	30818715	T	A	30818715	3	1	28	1	0	0	0	0	1	0	0	0	7798	1609	56	5	1883	5	IPO8	12	30818715	Missense_Mutation	SNP	T	TCGA-CH-5762-01A-11D-1576-08	5553993	30818715	103033180	75	1400											
IPO8	10526	broad.mit.edu	37	chr12	30818751	30818751	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcgggtctgtcaggatttgaTaacagaatgccatcattttt	10	15	9	7	1	3	2	2	1	1	1	4	3	3	3	1	2	2	0	1	2	2	4			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr12:30818751T>A	ENST00000256079.4	-	12	1588	c.1250A>T	c.(1249-1251)tAt>tTt	p.Y417F	IPO8_ENST00000544829.1_Missense_Mutation_p.Y212F	NM_006390.3	NP_006381.2	O15397	IPO8_HUMAN	importin 8	417					intracellular protein transport (GO:0006886)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	Ran GTPase binding (GO:0008536)	p.Y417F(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(16)|liver(1)|lung(22)|prostate(2)|skin(2)|urinary_tract(2)	52	all_lung(12;6.66e-10)|Lung NSC(12;4.84e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)					CAGGATTTGATAACAGAATGC	0.378																																						ENST00000256079.4																			1	Substitution - Missense(1)	p.Y417F(1)	prostate(1)	breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(16)|liver(1)|lung(22)|prostate(2)|skin(2)|urinary_tract(2)	52						c.(1249-1251)tAt>tTt		importin 8							93	94	94					12																	30818751		2203	4300	6503	SO:0001583	missense	10526				intracellular protein transport|signal transduction	cytoplasm|nucleus	protein transporter activity|Ran GTPase binding	g.chr12:30818751T>A	U77494	CCDS8719.1, CCDS53773.1	12p11.21	2011-05-23	2003-03-11	2003-03-14	ENSG00000133704	ENSG00000133704		"Importins"	9853	protein-coding gene	gene with protein product		605600	"RAN binding protein 8"	RANBP8		9214382	Standard	NM_006390		Approved	IMP8	uc001rjd.3	O15397	OTTHUMG00000169172	ENST00000256079.4:c.1250A>T	12.37:g.30818751T>A	ENSP00000256079:p.Tyr417Phe					IPO8_ENST00000544829.1_Missense_Mutation_p.Y212F	p.Y417F	NM_006390.3	NP_006381.2	O15397	IPO8_HUMAN			12	1588	-	all_lung(12;6.66e-10)|Lung NSC(12;4.84e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)		417					B7Z7M3	Missense_Mutation	SNP	ENST00000256079.4	37	c.1250A>T	CCDS8719.1	.	.	.	.	.	.	.	.	.	.	T	25.0	4.593798	0.86953	.	.	ENSG00000133704	ENST00000256079;ENST00000544829	T;T	0.66815	-0.23;-0.23	4.52	4.52	0.55395	Armadillo-like helical (1);Armadillo-type fold (1);Exportin/Importin, Cse1-like (1);	0.055492	0.64402	D	0.000001	T	0.69682	0.3138	L	0.56769	1.78	0.46061	D	0.998846	P;P	0.45212	0.741;0.853	P;P	0.50708	0.648;0.648	T	0.66192	-0.5985	10	0.19590	T	0.45	-17.8414	14.2775	0.66189	0.0:0.0:0.0:1.0	.	212;417	B7Z7M3;O15397	.;IPO8_HUMAN	F	417;212	ENSP00000256079:Y417F;ENSP00000444520:Y212F	ENSP00000256079:Y417F	Y	-	2	0	IPO8	30710018	1.000000	0.71417	0.997000	0.53966	0.995000	0.86356	7.477000	0.81069	2.019000	0.59389	0.477000	0.44152	TAT		0.378	IPO8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402700.2	NM_006390		28	120	0	0	0	0.717897	0	28	120					A	30818751	T	A	30818751	3	1	28	1	0	0	0	0	1	0	0	0	7798	1406	49	5	1919	5	IPO8	12	30818751	Missense_Mutation	SNP	T	TCGA-CH-5762-01A-11D-1576-08	36	30818751	103033144	76	1401											
KRT4	3851	broad.mit.edu	37	chr12	53201573	53201573	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggcagcctccagctctacgcGcttgctgtgggcatctttaa	6	11	11	13	2	2	0	0	0	2	0	3	0	3	0	2	2	4	5	2	2	2	4	rs372301476		TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr12:53201573G>A	ENST00000551956.1	-	7	1693	c.1201C>T	c.(1201-1203)Cgc>Tgc	p.R401C	KRT4_ENST00000293774.4_Missense_Mutation_p.R475C|KRT4_ENST00000458244.2_Missense_Mutation_p.R381C			P19013	K2C4_HUMAN	keratin 4	415	Coil 2.|Rod.				cytoskeleton organization (GO:0007010)|epithelial cell differentiation (GO:0030855)|negative regulation of epithelial cell proliferation (GO:0050680)	cell surface (GO:0009986)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|keratin filament (GO:0045095)|nucleus (GO:0005634)	structural molecule activity (GO:0005198)	p.R475C(2)		endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(4)|prostate(2)|skin(2)	29						AGCTCTACGCGCTTGCTGTGG	0.557																																					Pancreas(190;284 2995 41444 45903)	ENST00000293774.4																			2	Substitution - Missense(2)	p.R475C(2)	large_intestine(1)|prostate(1)	endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(4)|prostate(2)|skin(2)	29						c.(1423-1425)Cgc>Tgc		keratin 4		G	CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	88	83	85		1201	3.5	0.9	12		85	0,8600		0,0,4300	no	missense	KRT4	NM_002272.3	180	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	401/521	53201573	1,13005	2203	4300	6503	SO:0001583	missense	3851					keratin filament	structural molecule activity	g.chr12:53201573G>A		CCDS41787.1, CCDS41787.2	12q13.13	2013-01-16			ENSG00000170477	ENSG00000170477		"-", "Intermediate filaments type II, keratins (basic)"	6441	protein-coding gene	gene with protein product	"cytokeratin 4", "keratin, type II cytoskeletal 4"	123940		CYK4		16831889	Standard	NM_002272		Approved	CK4, K4	uc031qhk.1	P19013		ENST00000551956.1:c.1201C>T	12.37:g.53201573G>A	ENSP00000448220:p.Arg401Cys					KRT4_ENST00000458244.2_Missense_Mutation_p.R381C|KRT4_ENST00000551956.1_Missense_Mutation_p.R401C	p.R475C			B4DRS2	B4DRS2_HUMAN			7	1693	-			401					F8VS64|Q6GTR8|Q96LA7|Q9BTL1	Missense_Mutation	SNP	ENST00000551956.1	37	c.1423C>T	CCDS41787.2	.	.	.	.	.	.	.	.	.	.	G	19.82	3.898951	0.72754	2.27E-4	0.0	ENSG00000170477	ENST00000551956;ENST00000293774;ENST00000458244	D;D;D	0.88741	-2.42;-2.42;-2.42	5.47	3.54	0.40534	Filament (1);	0.665977	0.13461	N	0.386132	D	0.88720	0.6513	L	0.34521	1.04	0.40782	D	0.983188	D	0.61080	0.989	P	0.59595	0.86	D	0.87468	0.2412	10	0.87932	D	0	.	8.2945	0.31978	0.1415:0.1289:0.7296:0.0	.	415	P19013	K2C4_HUMAN	C	401;475;381	ENSP00000448220:R401C;ENSP00000293774:R475C;ENSP00000387904:R381C	ENSP00000293774:R475C	R	-	1	0	KRT4	51487840	0.731000	0.28111	0.872000	0.34217	0.826000	0.46750	2.345000	0.44018	1.459000	0.47892	0.561000	0.74099	CGC		0.557	KRT4-001	KNOWN	upstream_ATG|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000405931.1	NM_002272		18	88	0	0	0	0.624587	0	18	88					A	53201573	G	A	53201573	3	1	28	1	0	0	0	0	1	0	0	0	8477	1087	38	1	373	1	KRT4	12	53201573	Missense_Mutation	SNP	G	TCGA-CH-5762-01A-11D-1576-08	22382822	53201573	80650322	77	1402											
EEA1	8411	broad.mit.edu	37	chr12	93171901	93171901	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	aatctgcatggtaagtttagCctcattttcttcatgcttct	8	18	6	9	0	5	0	2	0	3	0	5	0	5	0	1	1	3	4	1	1	3	7			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr12:93171901C>T	ENST00000322349.8	-	26	3973	c.3709G>A	c.(3709-3711)Gct>Act	p.A1237T		NM_003566.3	NP_003557	Q15075	EEA1_HUMAN	early endosome antigen 1	1237					early endosome to late endosome transport (GO:0045022)|endocytosis (GO:0006897)|synaptic vesicle to endosome fusion (GO:0016189)|vesicle fusion (GO:0006906)	axonal spine (GO:0044308)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|extrinsic component of plasma membrane (GO:0019897)|membrane (GO:0016020)|recycling endosome (GO:0055037)|serine-pyruvate aminotransferase complex (GO:0005969)	1-phosphatidylinositol binding (GO:0005545)|calmodulin binding (GO:0005516)|GTP-dependent protein binding (GO:0030742)|protein homodimerization activity (GO:0042803)|zinc ion binding (GO:0008270)			endometrium(5)|kidney(5)|large_intestine(11)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	36						GTAAGTTTAGCCTCATTTTCT	0.373																																						ENST00000322349.8																			0				endometrium(5)|kidney(5)|large_intestine(11)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	36						c.(3709-3711)Gct>Act		early endosome antigen 1							202	186	191					12																	93171901		2202	4300	6502	SO:0001583	missense	8411				early endosome to late endosome transport|synaptic vesicle to endosome fusion|vesicle fusion	cytosol|early endosome membrane|extrinsic to plasma membrane|membrane fraction	1-phosphatidylinositol binding|calmodulin binding|GTP-dependent protein binding|protein homodimerization activity|zinc ion binding	g.chr12:93171901C>T	L40157	CCDS31874.1	12q22	2007-02-23	2007-02-23			ENSG00000102189		"Zinc fingers, FYVE domain containing"	3185	protein-coding gene	gene with protein product		605070	"early endosome antigen 1, 162kD"			7768953, 9697774	Standard	NM_003566		Approved	ZFYVE2	uc001tck.3	Q15075	OTTHUMG00000170110	ENST00000322349.8:c.3709G>A	12.37:g.93171901C>T	ENSP00000317955:p.Ala1237Thr						p.A1237T	NM_003566.3	NP_003557.2	Q15075	EEA1_HUMAN			26	3973	-			1237					Q14221	Missense_Mutation	SNP	ENST00000322349.8	37	c.3709G>A	CCDS31874.1	.	.	.	.	.	.	.	.	.	.	C	9.871	1.198824	0.22121	.	.	ENSG00000102189	ENST00000322349	T	0.65178	-0.14	5.61	-1.16	0.09678	.	0.641212	0.14314	N	0.327469	T	0.34542	0.0901	N	0.11560	0.145	0.20703	N	0.999863	B	0.02656	0.0	B	0.01281	0.0	T	0.18903	-1.0322	10	0.17369	T	0.5	.	7.5711	0.27909	0.1071:0.4215:0.0:0.4715	.	1237	Q15075	EEA1_HUMAN	T	1237	ENSP00000317955:A1237T	ENSP00000317955:A1237T	A	-	1	0	EEA1	91696032	0.269000	0.24143	0.431000	0.26735	0.781000	0.44180	0.101000	0.15251	-0.130000	0.11599	-0.237000	0.12165	GCT		0.373	EEA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407304.1	NM_003566		7	295	0	0	0	0.248553	0	7	295					T	93171901	C	T	93171901	3	4	28	1	0	0	0	0	1	0	0	0	4921	739	26	3	542	3	EEA1	12	93171901	Missense_Mutation	SNP	C	TCGA-CH-5762-01A-11D-1576-08	39970328	93171901	40679994	78	1403											
ANO4	121601	broad.mit.edu	37	chr12	101368648	101368648	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aaatctattacctgccccgcCgttacaagttcatgagcagg	11	10	8	12	2	2	1	1	1	1	0	2	1	2	1	4	1	4	3	4	1	5	4	rs144445830		TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr12:101368648C>G	ENST00000392977.3	+	7	793	c.583C>G	c.(583-585)Cgt>Ggt	p.R195G	ANO4_ENST00000392979.3_Missense_Mutation_p.R160G|ANO4_ENST00000538618.1_3'UTR|ANO4_ENST00000299222.9_5'UTR			Q32M45	ANO4_HUMAN	anoctamin 4	195					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)	p.R160C(1)		NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						CCTGCCCCGCCGTTACAAGTT	0.468										HNSCC(74;0.22)																												ENST00000392979.3																			1	Substitution - Missense(1)	p.R160C(1)	large_intestine(1)	NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						c.(478-480)Cgt>Ggt		anoctamin 4							132	125	128					12																	101368648		2203	4300	6503	SO:0001583	missense	121601					chloride channel complex	chloride channel activity	g.chr12:101368648C>G	AK091540	CCDS31884.1, CCDS66445.1	12q23.3	2014-04-09	2008-08-28	2008-08-28	ENSG00000151572	ENSG00000151572		"Ion channels / Chloride channels : Calcium activated : Anoctamins"	23837	protein-coding gene	gene with protein product		610111	"transmembrane protein 16D"	TMEM16D		12739008, 15067359, 24692353	Standard	NM_178826		Approved	FLJ34221, FLJ34272, FLJ35277	uc001thw.2	Q32M45		ENST00000392977.3:c.583C>G	12.37:g.101368648C>G	ENSP00000376703:p.Arg195Gly	HNSCC(74;0.22)				ANO4_ENST00000538618.1_3'UTR|ANO4_ENST00000392977.3_Missense_Mutation_p.R195G|ANO4_ENST00000299222.9_5'UTR	p.R160G	NM_178826.3	NP_849148.2	Q32M45	ANO4_HUMAN			6	839	+			195					Q8NAJ0|Q8NB39|Q8NB53	Missense_Mutation	SNP	ENST00000392977.3	37	c.478C>G		.	.	.	.	.	.	.	.	.	.	C	16.99	3.275209	0.59649	.	.	ENSG00000151572	ENST00000392979;ENST00000392977	T;T	0.65916	-0.18;-0.18	5.52	5.52	0.82312	.	0.000000	0.64402	D	0.000001	T	0.67730	0.2924	L	0.45137	1.4	0.80722	D	1	P;P	0.52692	0.955;0.928	P;P	0.52881	0.654;0.712	T	0.65463	-0.6162	10	0.38643	T	0.18	.	19.4375	0.94801	0.0:1.0:0.0:0.0	.	195;160	Q32M45;Q32M45-2	ANO4_HUMAN;.	G	160;195	ENSP00000376705:R160G;ENSP00000376703:R195G	ENSP00000376703:R195G	R	+	1	0	ANO4	99892779	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.392000	0.59659	2.594000	0.87642	0.650000	0.86243	CGT		0.468	ANO4-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000409295.1	NM_178826		5	194	0	0	0	0.184627	0	5	194					G	101368648	C	G	101368648	3	3	28	1	0	0	0	0	1	0	0	0	699	652	23	5	496	5	ANO4	12	101368648	Missense_Mutation	SNP	C	TCGA-CH-5762-01A-11D-1576-08	8196747	101368648	32483247	79	1404											
MED13L	23389	broad.mit.edu	37	chr12	116457671	116457671	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tctttcttttttagcaccatCgggtagaaatactgccattc	9	16	6	10	1	2	1	0	0	2	1	4	1	2	1	2	1	3	2	2	1	4	7			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr12:116457671C>T	ENST00000281928.3	-	6	938	c.732G>A	c.(730-732)ccG>ccA	p.P244P		NM_015335.4	NP_056150.1	Q71F56	MD13L_HUMAN	mediator complex subunit 13-like	244						mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)	p.P244P(1)		NS(2)|breast(1)|endometrium(9)|kidney(3)|large_intestine(18)|lung(34)|ovary(4)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	85	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0407)		TTAGCACCATCGGGTAGAAAT	0.418																																						ENST00000281928.3																			1	Substitution - coding silent(1)	p.P244P(1)	prostate(1)	NS(2)|breast(1)|endometrium(9)|kidney(3)|large_intestine(18)|lung(34)|ovary(4)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	85						c.(730-732)ccG>ccA		mediator complex subunit 13-like							175	157	163					12																	116457671		2203	4300	6503	SO:0001819	synonymous_variant	23389				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent			g.chr12:116457671C>T	AB028948	CCDS9177.1	12q24.22	2010-07-29	2007-07-30	2007-07-30	ENSG00000123066	ENSG00000123066			22962	protein-coding gene	gene with protein product		608771	"thyroid hormone receptor associated protein 2"	THRAP2			Standard	NM_015335		Approved	KIAA1025, TRAP240L	uc001tvw.3	Q71F56	OTTHUMG00000169404	ENST00000281928.3:c.732G>A	12.37:g.116457671C>T							p.P244P	NM_015335.4	NP_056150.1	Q71F56	MD13L_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.0407)	6	938	-	all_neural(191;0.117)|Medulloblastoma(191;0.163)		244					A1L469|Q68DN4|Q9H8C0|Q9NSY9|Q9UFD8|Q9UPX5	Silent	SNP	ENST00000281928.3	37	c.732G>A	CCDS9177.1																																																																																				0.418	MED13L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403879.3			63	158	0	0	0	0.870114	0	63	158					T	116457671	C	T	116457671	2	4	28	1	0	0	0	0	0	0	0	1	9431	871	31	2		2	MED13L	12	116457671	Silent	SNP	C	TCGA-CH-5762-01A-11D-1576-08	15089023	116457671	17394224	80	1405											
CHFR	55743	broad.mit.edu	37	chr12	133428223	133428223	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cactgctgaggggcgacacgCgggtcctgctcgcgctccgc	4	6	15	16	6	0	1	0	1	0	0	3	2	2	1	2	3	2	3	2	3	0	0	rs142511371		TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr12:133428223C>T	ENST00000432561.2	-	12	1582	c.1509G>A	c.(1507-1509)ccG>ccA	p.P503P	CHFR_ENST00000541837.2_5'UTR|CHFR_ENST00000266880.7_Silent_p.P502P|CHFR_ENST00000315585.7_Silent_p.P462P|CHFR_ENST00000443047.2_Silent_p.P411P|CHFR_ENST00000537522.1_Silent_p.P125P|CHFR_ENST00000450056.2_Silent_p.P491P			Q96EP1	CHFR_HUMAN	checkpoint with forkhead and ring finger domains, E3 ubiquitin protein ligase	503					mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)|modification-dependent protein catabolic process (GO:0019941)|protein polyubiquitination (GO:0000209)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleus (GO:0005634)|PML body (GO:0016605)	ligase activity (GO:0016874)|nucleotide binding (GO:0000166)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.P462P(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;0.00552)|all_epithelial(31;0.226)		OV - Ovarian serous cystadenocarcinoma(86;2.59e-08)|Epithelial(86;6.38e-07)|all cancers(50;1.56e-05)		GGGCGACACGCGGGTCCTGCT	0.657																																						ENST00000266880.7																			1	Substitution - coding silent(1)	p.P462P(1)	prostate(1)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						c.(1504-1506)ccG>ccA		checkpoint with forkhead and ring finger domains, E3 ubiquitin protein ligase		C	,,,,	0,4406		0,0,2203	83	90	87		1509,1506,1473,1233,1386	-6.4	0	12	dbSNP_134	87	2,8596	2.2+/-6.3	0,2,4297	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	CHFR	NM_001161344.1,NM_001161345.1,NM_001161346.1,NM_001161347.1,NM_018223.2	,,,,	0,2,6500	TT,TC,CC		0.0233,0.0,0.0154	,,,,	503/665,502/664,491/653,411/573,462/624	133428223	2,13002	2203	4299	6502	SO:0001819	synonymous_variant	0				cell division|mitosis|mitotic cell cycle checkpoint|modification-dependent protein catabolic process|protein polyubiquitination	PML body	nucleotide binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr12:133428223C>T	AK001658	CCDS31937.1, CCDS53847.1, CCDS53848.1, CCDS53849.1	12q24.33	2012-02-23	2012-02-23			ENSG00000072609		"RING-type (C3HC4) zinc fingers"	20455	protein-coding gene	gene with protein product		605209	"checkpoint with forkhead and ring finger domains"			10935642, 11807090	Standard	NM_001161344		Approved	FLJ10796, RNF196	uc001ulf.2	Q96EP1		ENST00000432561.2:c.1509G>A	12.37:g.133428223C>T						CHFR_ENST00000450056.2_Silent_p.P491P|CHFR_ENST00000443047.2_Silent_p.P411P|CHFR_ENST00000315585.7_Silent_p.P462P|CHFR_ENST00000537522.1_Silent_p.P125P|CHFR_ENST00000541837.2_5'UTR|CHFR_ENST00000432561.2_Silent_p.P503P	p.P502P			Q96EP1	CHFR_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;2.59e-08)|Epithelial(86;6.38e-07)|all cancers(50;1.56e-05)	13	1569	-	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;0.00552)|all_epithelial(31;0.226)	503					A6NEN5|B4DZ77|B4E2L6|Q96SL3|Q9NRT4|Q9NT32|Q9NVD5	Silent	SNP	ENST00000432561.2	37	c.1506G>A	CCDS53849.1																																																																																				0.657	CHFR-002	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397130.2			58	292	0	0	0	0.870114	0	58	292					T	133428223	C	T	133428223	2	4	28	1	0	0	0	0	0	0	0	1	3337	755	27	1		1	CHFR	12	133428223	Silent	SNP	C	TCGA-CH-5762-01A-11D-1576-08	16970552	133428223	423672	81	1406											
ITGBL1	9358	broad.mit.edu	37	chr13	102250584	102250584	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgagcacccacagtcctgcaCgctgtcagctgaggagagca	10	6	12	13	1	1	3	1	2	0	1	2	4	2	3	2	1	4	5	2	1	0	0	rs201534595	byFrequency	TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr13:102250584C>T	ENST00000376180.3	+	7	1169	c.950C>T	c.(949-951)aCg>aTg	p.T317M	ITGBL1_ENST00000376162.3_Missense_Mutation_p.T224M|ITGBL1_ENST00000545560.2_Missense_Mutation_p.T176M	NM_001271756.1|NM_004791.1	NP_001258685.1|NP_004782.1	O95965	ITGBL_HUMAN	integrin, beta-like 1 (with EGF-like repeat domains)	317	Cysteine-rich tandem repeats.				cell adhesion (GO:0007155)	extracellular region (GO:0005576)		p.T317M(1)		breast(1)|large_intestine(6)|lung(16)|ovary(1)|prostate(4)|skin(3)	31	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					CAGTCCTGCACGCTGTCAGCT	0.567													C|||	2	0.000399361	0	0	5008	,	,		13307	0.001		0.001	False		,,,				2504	0					ENST00000376180.3																			1	Substitution - Missense(1)	p.T317M(1)	prostate(1)	breast(1)|large_intestine(6)|lung(16)|ovary(1)|prostate(4)|skin(3)	31						c.(949-951)aCg>aTg		integrin, beta-like 1 (with EGF-like repeat domains)							142	114	123					13																	102250584		2203	4300	6503	SO:0001583	missense	9358				cell-matrix adhesion|integrin-mediated signaling pathway	extracellular region|integrin complex	binding|receptor activity	g.chr13:102250584C>T	AF072752	CCDS9499.1, CCDS61361.1, CCDS61362.1, CCDS73594.1	13q33	2008-07-18			ENSG00000198542	ENSG00000198542			6164	protein-coding gene	gene with protein product	"ten integrin EGF-like repeat domains protein", "ITGBL1, integrin beta-like 1"	604234				10051402	Standard	NM_004791		Approved	TIED, OSCP	uc001vpb.4	O95965	OTTHUMG00000017296	ENST00000376180.3:c.950C>T	13.37:g.102250584C>T	ENSP00000365351:p.Thr317Met					ITGBL1_ENST00000376162.3_Missense_Mutation_p.T224M|ITGBL1_ENST00000545560.2_Missense_Mutation_p.T176M	p.T317M	NM_001271756.1|NM_004791.1	NP_001258685.1|NP_004782.1	O95965	ITGBL_HUMAN			7	1169	+	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		317			Cysteine-rich tandem repeats.		A8K5M5|B3KTP1|B4DQ02|Q8N172|Q9NPR0	Missense_Mutation	SNP	ENST00000376180.3	37	c.950C>T	CCDS9499.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	3.585	-0.084721	0.07097	.	.	ENSG00000198542	ENST00000376180;ENST00000537118;ENST00000539955;ENST00000545560;ENST00000376162	D;T;D	0.84944	-1.92;-0.97;-1.71	5.42	1.74	0.24563	.	0.472076	0.26045	N	0.026674	T	0.66982	0.2845	N	0.14661	0.345	0.09310	N	0.999995	B;B	0.10296	0.001;0.003	B;B	0.08055	0.0;0.003	T	0.51949	-0.8640	10	0.33141	T	0.24	.	2.9438	0.05839	0.1258:0.5559:0.1219:0.1964	.	176;317	B3KTP1;O95965	.;ITGBL_HUMAN	M	317;225;176;176;224	ENSP00000365351:T317M;ENSP00000439903:T176M;ENSP00000365332:T224M	ENSP00000365332:T224M	T	+	2	0	ITGBL1	101048585	0.000000	0.05858	0.121000	0.21740	0.011000	0.07611	0.116000	0.15561	0.005000	0.14708	-0.794000	0.03295	ACG		0.567	ITGBL1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045669.2	NM_004791		18	79	0	0	0	0.520397	0	18	79					T	102250584	C	T	102250584	3	4	28	1	0	0	0	0	1	0	0	0	7902	536	19	1	976	1	ITGBL1	13	102250584	Missense_Mutation	SNP	C	TCGA-CH-5762-01A-11D-1576-08		102250584	12919294	82	1407											
RNASE6	6039	broad.mit.edu	37	chr14	21250158	21250158	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cagagctcaaagcctgtcaaCatgactgactgcagactcac	13	7	8	13	0	3	4	3	2	0	2	3	4	3	4	1	0	4	2	1	0	2	0			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr14:21250158C>T	ENST00000304677.2	+	2	593	c.300C>T	c.(298-300)aaC>aaT	p.N100N	RP11-219E7.1_ENST00000556624.1_RNA	NM_005615.4	NP_005606.1	Q93091	RNAS6_HUMAN	ribonuclease, RNase A family, k6	100					defense response (GO:0006952)|RNA catabolic process (GO:0006401)|RNA phosphodiester bond hydrolysis (GO:0090501)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	endonuclease activity (GO:0004519)|nucleic acid binding (GO:0003676)|ribonuclease activity (GO:0004540)			large_intestine(1)	1	all_cancers(95;0.00406)		Epithelial(56;9.21e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0126)		AGCCTGTCAACATGACTGACT	0.502																																						ENST00000304677.2																			0				large_intestine(1)	1						c.(298-300)aaC>aaT		ribonuclease, RNase A family, k6							148	143	145					14																	21250158		2203	4300	6503	SO:0001819	synonymous_variant	6039				defense response|RNA catabolic process	extracellular region	nucleic acid binding|pancreatic ribonuclease activity	g.chr14:21250158C>T	U64998	CCDS9558.1	14q11	2008-07-09			ENSG00000169413	ENSG00000169413		"Ribonucleases, RNase A"	10048	protein-coding gene	gene with protein product	"RNase k6"	601981		RNS6		8836175, 9647635	Standard	NM_005615		Approved		uc001vye.4	Q93091	OTTHUMG00000029585	ENST00000304677.2:c.300C>T	14.37:g.21250158C>T							p.N100N	NM_005615.4	NP_005606.1	Q93091	RNAS6_HUMAN	Epithelial(56;9.21e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0126)	2	593	+	all_cancers(95;0.00406)		100						Silent	SNP	ENST00000304677.2	37	c.300C>T	CCDS9558.1																																																																																				0.502	RNASE6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073750.2			8	286	0	0	0	0.27861	0	8	286					T	21250158	C	T	21250158	2	4	28	1	0	0	0	0	0	0	0	1	13407	477	17	3		3	RNASE6	14	21250158	Silent	SNP	C	TCGA-CH-5762-01A-11D-1576-08		21250158	86099382	83	1408											
C14orf106	55320	broad.mit.edu	37	chr14	45693191	45693191	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	accaggtaagcattctaaggGatgcctatttgtcttatcag	11	13	9	8	0	3	0	1	0	2	0	3	1	3	1	2	2	2	2	2	2	4	6			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr14:45693191G>T	ENST00000310806.4	-	11	3057	c.2599C>A	c.(2599-2601)Ccc>Acc	p.P867T		NM_018353.4	NP_060823.3	Q6P0N0	M18BP_HUMAN	MIS18 binding protein 1	867					CENP-A containing nucleosome assembly (GO:0034080)|mitotic nuclear division (GO:0007067)|nucleosome assembly (GO:0006334)	chromosome, centromeric region (GO:0000775)|nucleoplasm (GO:0005654)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	39						CATTCTAAGGGATGCCTATTT	0.383																																						ENST00000310806.4																			0				NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	39						c.(2599-2601)Ccc>Acc		MIS18 binding protein 1							102	96	98					14																	45693191		2203	4300	6503	SO:0001583	missense	55320				cell division|CenH3-containing nucleosome assembly at centromere|mitosis	chromosome, centromeric region|nucleoplasm	DNA binding	g.chr14:45693191G>T	AB067490	CCDS9684.1	14q21.1	2011-06-03	2011-02-23	2011-02-23	ENSG00000129534	ENSG00000129534			20190	protein-coding gene	gene with protein product	"kinetochore null 2 homolog (C. elegans)"		"chromosome 14 open reading frame 106"	C14orf106		17339379, 17199038	Standard	NM_018353		Approved	M18BP1, FLJ11186, KIAA1903, KNL2	uc001wwf.3	Q6P0N0	OTTHUMG00000140266	ENST00000310806.4:c.2599C>A	14.37:g.45693191G>T	ENSP00000309790:p.Pro867Thr						p.P867T	NM_018353.4	NP_060823.3	Q6P0N0	M18BP_HUMAN			11	3057	-			867					D3DSA7|Q86V14|Q96PY4|Q9NUR5|Q9Y4X9	Missense_Mutation	SNP	ENST00000310806.4	37	c.2599C>A	CCDS9684.1	.	.	.	.	.	.	.	.	.	.	G	0.001	-2.980202	0.00046	.	.	ENSG00000129534	ENST00000310806	T	0.16324	2.35	5.4	-4.72	0.03269	.	1.162560	0.06170	N	0.677462	T	0.08179	0.0204	N	0.14661	0.345	0.09310	N	1	B	0.15473	0.013	B	0.09377	0.004	T	0.40572	-0.9556	10	0.15952	T	0.53	14.412	7.658	0.28386	0.4838:0.1131:0.4031:0.0	.	867	Q6P0N0	M18BP_HUMAN	T	867	ENSP00000309790:P867T	ENSP00000309790:P867T	P	-	1	0	MIS18BP1	44762941	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.200000	0.17257	-0.907000	0.03862	-1.990000	0.00449	CCC		0.383	MIS18BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276795.2			8	207	1	0	5.18039e-06	0.27861	5.80498e-06	8	207					T	45693191	G	T	45693191	3	4	28	1	0	0	0	0	1	0	0	0	1738	1174	41	5	827	5	C14orf106	14	45693191	Missense_Mutation	SNP	G	TCGA-CH-5762-01A-11D-1576-08	24443033	45693191	61656349	84	1409											
DDHD1	80821	broad.mit.edu	37	chr14	53513502	53513502	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gagttcagattggatctaaaTtgggttttgcatcatcatcg	10	15	10	6	1	4	1	3	0	1	1	5	3	4	2	0	2	1	3	0	2	2	6			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr14:53513502T>C	ENST00000323669.5	-	13	2686	c.2687A>G	c.(2686-2688)aAt>aGt	p.N896S	DDHD1_ENST00000555621.1_5'Flank|DDHD1_ENST00000357758.3_Missense_Mutation_p.N868S|DDHD1_ENST00000395606.1_Missense_Mutation_p.N875S	NM_001160148.1	NP_001153620.1	Q8NEL9	DDHD1_HUMAN	DDHD domain containing 1	896					cell death (GO:0008219)|lipid catabolic process (GO:0016042)	cytoplasm (GO:0005737)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)	p.N868S(1)		breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)	25	Breast(41;0.037)					TGGATCTAAATTGGGTTTTGC	0.388																																						ENST00000357758.3																			1	Substitution - Missense(1)	p.N868S(1)	prostate(1)	breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)	25						c.(2602-2604)aAt>aGt		DDHD domain containing 1							153	135	141					14																	53513502		2203	4300	6503	SO:0001583	missense	0				lipid catabolic process	cytoplasm	hydrolase activity|metal ion binding	g.chr14:53513502T>C	AB051492	CCDS9714.1, CCDS53895.1, CCDS53896.1	14q21	2012-11-23			ENSG00000100523	ENSG00000100523			19714	protein-coding gene	gene with protein product	"phosphatidic acid-preferring phospholipase A1"	614603	"spastic paraplegia 28 (autosomal recessive)"	SPG28		11214970, 20359546	Standard	NM_030637		Approved	KIAA1705, PA-PLA1	uc001xai.3	Q8NEL9	OTTHUMG00000140305	ENST00000323669.5:c.2687A>G	14.37:g.53513502T>C	ENSP00000327104:p.Asn896Ser					DDHD1_ENST00000395606.1_Missense_Mutation_p.N875S|DDHD1_ENST00000323669.5_Missense_Mutation_p.N896S	p.N868S	NM_030637.2	NP_085140.2	Q8NEL9	DDHD1_HUMAN			12	2786	-	Breast(41;0.037)		896			DDHD.		G5E9D1|Q8WVH3|Q96LL2|Q9C0F8	Missense_Mutation	SNP	ENST00000323669.5	37	c.2603A>G	CCDS53895.1	.	.	.	.	.	.	.	.	.	.	T	4.807	0.149952	0.09185	.	.	ENSG00000100523	ENST00000323669;ENST00000395606;ENST00000357758;ENST00000395610	.	.	.	5.92	-5.14	0.02875	.	0.635988	0.18055	N	0.153130	T	0.14830	0.0358	N	0.02802	-0.49	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.001;0.001	T	0.26849	-1.0091	9	0.06365	T	0.9	-1.3423	16.1662	0.81757	0.0:0.5904:0.0:0.4096	.	875;896;868	G5E9D1;Q8NEL9;Q8NEL9-2	.;DDHD1_HUMAN;.	S	896;875;868;767	.	ENSP00000327104:N896S	N	-	2	0	DDHD1	52583252	0.000000	0.05858	0.139000	0.22197	0.903000	0.53119	-0.966000	0.03825	-1.007000	0.03408	0.459000	0.35465	AAT		0.388	DDHD1-003	KNOWN	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000276901.1			25	133	0	0	0	0.667858	0	25	133					C	53513502	T	C	53513502	3	2	28	1	0	0	0	0	1	0	0	0	4326	1493	52	4	19	4	DDHD1	14	53513502	Missense_Mutation	SNP	T	TCGA-CH-5762-01A-11D-1576-08	7820311	53513502	53836038	85	1410											
DACT1	51339	broad.mit.edu	37	chr14	59112942	59112942	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacagctttccccgtggaagAgaggcctgccttggatttca	8	11	11	11	1	1	1	1	0	0	1	2	4	2	3	4	3	3	1	4	3	2	4			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr14:59112942A>G	ENST00000335867.4	+	4	1625	c.1601A>G	c.(1600-1602)gAg>gGg	p.E534G	DACT1_ENST00000395153.3_Missense_Mutation_p.E497G|DACT1_ENST00000556859.1_Missense_Mutation_p.E253G|DACT1_ENST00000541264.2_Missense_Mutation_p.E253G			Q9NYF0	DACT1_HUMAN	dishevelled-binding antagonist of beta-catenin 1	534					dendrite morphogenesis (GO:0048813)|embryonic hindgut morphogenesis (GO:0048619)|gastrulation with mouth forming second (GO:0001702)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of JNK cascade (GO:0046329)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of Wnt signaling pathway (GO:0030178)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of catenin import into nucleus (GO:0035412)|regulation of protein stability (GO:0031647)|regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000095)|synapse organization (GO:0050808)|Wnt signaling pathway (GO:0016055)	beta-catenin destruction complex (GO:0030877)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|synapse (GO:0045202)	beta-catenin binding (GO:0008013)|delta-catenin binding (GO:0070097)|protein kinase A binding (GO:0051018)|protein kinase C binding (GO:0005080)	p.E534G(1)		endometrium(7)|kidney(3)|large_intestine(11)|lung(27)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	53						CCCGTGGAAGAGAGGCCTGCC	0.592																																						ENST00000395153.3																			1	Substitution - Missense(1)	p.E534G(1)	prostate(1)	endometrium(7)|kidney(3)|large_intestine(11)|lung(27)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	53						c.(1489-1491)gAg>gGg		dishevelled-binding antagonist of beta-catenin 1							49	59	56					14																	59112942		2203	4300	6503	SO:0001583	missense	51339				multicellular organismal development|Wnt receptor signaling pathway	cytoplasm|nucleus		g.chr14:59112942A>G	AF251079	CCDS9736.1, CCDS41961.1	14q22.3	2013-05-15	2013-05-15		ENSG00000165617	ENSG00000165617			17748	protein-coding gene	gene with protein product		607861	"dapper homolog 1, antagonist of beta-catenin (xenopus)", "dapper, antagonist of beta-catenin, homolog 1 (Xenopus laevis)"			11970895	Standard	NM_001079520		Approved	DAPPER1, THYEX3, HDPR1, DAPPER, FRODO	uc001xdw.3	Q9NYF0	OTTHUMG00000140324	ENST00000335867.4:c.1601A>G	14.37:g.59112942A>G	ENSP00000337439:p.Glu534Gly					DACT1_ENST00000335867.4_Missense_Mutation_p.E534G|DACT1_ENST00000541264.2_Missense_Mutation_p.E253G|DACT1_ENST00000395151.3_Missense_Mutation_p.E253G|DACT1_ENST00000556859.1_Missense_Mutation_p.E253G	p.E497G	NM_001079520.1|NM_016651.5	NP_001072988.1|NP_057735.2	Q9NYF0	DACT1_HUMAN			4	1637	+			534					A8MYJ2|Q86TY0	Missense_Mutation	SNP	ENST00000335867.4	37	c.1490A>G	CCDS9736.1	.	.	.	.	.	.	.	.	.	.	A	14.49	2.552105	0.45487	.	.	ENSG00000165617	ENST00000556859;ENST00000395151;ENST00000395153;ENST00000335867;ENST00000541264	T;T;T;T;T	0.62232	0.69;0.69;0.04;0.04;0.69	4.92	3.74	0.42951	.	0.359984	0.30168	N	0.010245	T	0.61286	0.2335	M	0.65975	2.015	0.35490	D	0.798895	P;P	0.40660	0.675;0.726	B;B	0.43478	0.344;0.421	T	0.69285	-0.5185	10	0.72032	D	0.01	-8.6379	7.5438	0.27755	0.7123:0.147:0.0:0.1407	.	497;534	A8MYJ2;Q9NYF0	.;DACT1_HUMAN	G	253;253;497;534;253	ENSP00000451598:E253G;ENSP00000378581:E253G;ENSP00000378582:E497G;ENSP00000337439:E534G;ENSP00000442850:E253G	ENSP00000337439:E534G	E	+	2	0	DACT1	58182695	1.000000	0.71417	0.497000	0.27552	0.731000	0.41821	3.788000	0.55446	0.691000	0.31592	0.460000	0.39030	GAG		0.592	DACT1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000325515.1	NM_016651		26	161	0	0	0	0.717897	0	26	161					G	59112942	A	G	59112942	3	3	28	1	0	0	0	0	1	0	0	0	4222	304	11	4	1615	4	DACT1	14	59112942	Missense_Mutation	SNP	A	TCGA-CH-5762-01A-11D-1576-08	5599440	59112942	48236598	86	1411											
HSP90AA1	3320	broad.mit.edu	37	chr14	102548653	102548653	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tccaggtgtttctttgctgcCatgtaacccattgttgagtt	6	17	9	9	0	1	1	0	1	1	0	2	1	2	1	3	1	3	5	3	1	1	6			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr14:102548653C>T	ENST00000216281.8	-	10	2089	c.1884G>A	c.(1882-1884)atG>atA	p.M628I	HSP90AA1_ENST00000334701.7_Missense_Mutation_p.M750I	NM_005348.3	NP_005339.3	P07900	HS90A_HUMAN	heat shock protein 90kDa alpha (cytosolic), class A member 1	628					ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|chaperone-mediated protein complex assembly (GO:0051131)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|G2/M transition of mitotic cell cycle (GO:0000086)|innate immune response (GO:0045087)|mitochondrial transport (GO:0006839)|mitotic cell cycle (GO:0000278)|nitric oxide metabolic process (GO:0046209)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|protein import into mitochondrial outer membrane (GO:0045040)|protein refolding (GO:0042026)|regulation of nitric-oxide synthase activity (GO:0050999)|response to unfolded protein (GO:0006986)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle lumen (GO:0071682)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|identical protein binding (GO:0042802)|MHC class II protein complex binding (GO:0023026)|nitric-oxide synthase regulator activity (GO:0030235)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|TPR domain binding (GO:0030911)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(6)|large_intestine(3)|liver(1)|lung(10)|ovary(2)|prostate(1)	28					Nedocromil(DB00716)|Rifabutin(DB00615)	TCTTTGCTGCCATGTAACCCA	0.448																																						ENST00000334701.7																			0				breast(1)|central_nervous_system(2)|endometrium(2)|kidney(6)|large_intestine(3)|liver(1)|lung(10)|ovary(2)|prostate(1)	28						c.(2248-2250)atG>atA		heat shock protein 90kDa alpha (cytosolic), class A member 1	Rifabutin(DB00615)						163	162	163					14																	102548653		2203	4300	6503	SO:0001583	missense	3320				axon guidance|cellular chaperone-mediated protein complex assembly|G2/M transition of mitotic cell cycle|nitric oxide metabolic process|positive regulation of nitric oxide biosynthetic process|protein import into mitochondrial outer membrane|protein refolding|regulation of nitric-oxide synthase activity|response to unfolded protein|signal transduction	cytosol|melanosome|plasma membrane	ATP binding|ATPase activity|nitric-oxide synthase regulator activity|protein homodimerization activity|TPR domain binding|unfolded protein binding	g.chr14:102548653C>T	M27024	CCDS9967.1, CCDS32160.1	14q32.33	2011-09-02	2006-02-24	2006-02-24	ENSG00000080824	ENSG00000080824		"Heat shock proteins / HSPC"	5253	protein-coding gene	gene with protein product		140571	"heat shock 90kD protein 1, alpha", "heat shock 90kDa protein 1, alpha"	HSPC1, HSPCA		2527334, 16269234	Standard	NM_001017963		Approved	Hsp89, Hsp90, FLJ31884, HSP90N	uc001ykv.4	P07900		ENST00000216281.8:c.1884G>A	14.37:g.102548653C>T	ENSP00000216281:p.Met628Ile					HSP90AA1_ENST00000216281.8_Missense_Mutation_p.M628I	p.M750I	NM_001017963.2	NP_001017963.2	P07900	HS90A_HUMAN			11	2531	-			628					A8K500|B3KPJ9|Q2PP14|Q5CAQ6|Q5CAQ7|Q9BVQ5	Missense_Mutation	SNP	ENST00000216281.8	37	c.2250G>A	CCDS9967.1	.	.	.	.	.	.	.	.	.	.	c	19.62	3.861845	0.71949	.	.	ENSG00000080824	ENST00000216281;ENST00000334701	T;T	0.10763	2.84;2.84	4.51	4.51	0.55191	.	0.000000	0.85682	U	0.000000	T	0.34978	0.0916	M	0.90252	3.1	0.80722	D	1	P;P	0.48640	0.913;0.864	P;P	0.54060	0.741;0.681	T	0.49173	-0.8967	10	0.87932	D	0	-45.819	17.5881	0.87988	0.0:1.0:0.0:0.0	.	750;628	P07900-2;P07900	.;HS90A_HUMAN	I	628;750	ENSP00000216281:M628I;ENSP00000335153:M750I	ENSP00000216281:M628I	M	-	3	0	HSP90AA1	101618406	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.776000	0.68924	2.228000	0.72767	0.585000	0.79938	ATG		0.448	HSP90AA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414952.2	NM_005348		7	394	0	0	0	0.248553	0	7	394					T	102548653	C	T	102548653	3	4	28	1	0	0	0	0	1	0	0	0	7401	594	21	3	322	3	HSP90AA1	14	102548653	Missense_Mutation	SNP	C	TCGA-CH-5762-01A-11D-1576-08	43435711	102548653	4800887	87	1412											
CILP	8483	broad.mit.edu	37	chr15	65502037	65502037	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gatacttagcctatacccaaCacagatgtgacttccaggac	13	9	7	12	0	0	2	0	1	0	1	1	4	1	3	3	1	4	0	3	1	5	5			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr15:65502037C>A	ENST00000261883.4	-	2	223	c.57G>T	c.(55-57)gtG>gtT	p.V19V		NM_003613.3	NP_003604	O75339	CILP1_HUMAN	cartilage intermediate layer protein, nucleotide pyrophosphohydrolase	19					negative regulation of insulin-like growth factor receptor signaling pathway (GO:0043569)	extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)		p.V19V(1)		breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(17)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	55						CTATACCCAACACAGATGTGA	0.542																																						ENST00000261883.4																			1	Substitution - coding silent(1)	p.V19V(1)	prostate(1)	breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(17)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	55						c.(55-57)gtG>gtT		cartilage intermediate layer protein, nucleotide pyrophosphohydrolase							155	128	137					15																	65502037		2201	4299	6500	SO:0001819	synonymous_variant	8483				negative regulation of insulin-like growth factor receptor signaling pathway	extracellular matrix part|extracellular space|proteinaceous extracellular matrix		g.chr15:65502037C>A	AY358904	CCDS10203.1	15q22	2013-01-14			ENSG00000138615	ENSG00000138615		"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	1980	protein-coding gene	gene with protein product		603489				9722584, 9722583	Standard	NM_003613		Approved	HsT18872	uc002aon.2	O75339	OTTHUMG00000133140	ENST00000261883.4:c.57G>T	15.37:g.65502037C>A							p.V19V	NM_003613.3	NP_003604.3	O75339	CILP1_HUMAN			2	223	-			19					B2R8F7|Q6UW99|Q8IYI5	Silent	SNP	ENST00000261883.4	37	c.57G>T	CCDS10203.1																																																																																				0.542	CILP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256829.1	NM_003613		10	83	1	0	2.62699e-14	0.479597	3.02966e-14	10	83					A	65502037	C	A	65502037	2	1	28	1	0	0	0	0	0	0	0	1	3429	465	17	5		5	CILP	15	65502037	Silent	SNP	C	TCGA-CH-5762-01A-11D-1576-08		65502037	37029355	88	1413											
DENND4A	10260	broad.mit.edu	37	chr15	66015198	66015198	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccacttacattttgccaattGctgatgcaaattattcagtg	11	15	6	9	0	1	1	1	1	0	0	1	1	1	1	2	0	4	2	2	0	4	6			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr15:66015198G>T	ENST00000431932.2	-	12	1784	c.1576C>A	c.(1576-1578)Caa>Aaa	p.Q526K	DENND4A_ENST00000443035.3_Missense_Mutation_p.Q526K	NM_005848.3	NP_005839.3	Q7Z401	MYCPP_HUMAN	DENN/MADD domain containing 4A	526					positive regulation of Rab GTPase activity (GO:0032851)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(11)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	51						TTTGCCAATTGCTGATGCAAA	0.303																																						ENST00000443035.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(11)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	51						c.(1576-1578)Caa>Aaa		DENN/MADD domain containing 4A							101	86	90					15																	66015198		1808	4066	5874	SO:0001583	missense	10260				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	g.chr15:66015198G>T	AF534403	CCDS45285.1, CCDS53949.1	15q22.31	2012-10-03	2006-01-27	2006-01-27				"DENN/MADD domain containing"	24321	protein-coding gene	gene with protein product		600382	"c-myc promoter binding protein"	MYCPBP		8056341, 12906859	Standard	NM_005848		Approved	IRLB	uc002api.3	Q7Z401		ENST00000431932.2:c.1576C>A	15.37:g.66015198G>T	ENSP00000396830:p.Gln526Lys					DENND4A_ENST00000431932.2_Missense_Mutation_p.Q526K	p.Q526K	NM_001144823.1	NP_001138295.1	Q7Z401	MYCPP_HUMAN			12	1791	-			526					E7EPL3|Q14655|Q86T77|Q8IVX2|Q8NB93	Missense_Mutation	SNP	ENST00000431932.2	37	c.1576C>A	CCDS45285.1	.	.	.	.	.	.	.	.	.	.	G	18.81	3.703210	0.68501	.	.	ENSG00000174485	ENST00000443035;ENST00000431932	T;T	0.04917	3.53;3.55	4.81	4.81	0.61882	.	0.000000	0.85682	D	0.000000	T	0.23727	0.0574	M	0.68317	2.08	0.80722	D	1	B;D;D	0.71674	0.01;0.998;0.994	B;D;D	0.78314	0.013;0.991;0.968	T	0.00715	-1.1597	10	0.37606	T	0.19	.	18.2232	0.89907	0.0:0.0:1.0:0.0	.	526;526;526	B7Z5Y3;E7EPL3;Q7Z401	.;.;MYCPP_HUMAN	K	526	ENSP00000391167:Q526K;ENSP00000396830:Q526K	ENSP00000396830:Q526K	Q	-	1	0	DENND4A	63802252	1.000000	0.71417	0.994000	0.49952	0.993000	0.82548	6.480000	0.73604	2.360000	0.80028	0.563000	0.77884	CAA		0.303	DENND4A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419611.1	NM_005848		3	43	1	0	0.184627	0.184627	0.193186	3	43					T	66015198	G	T	66015198	3	4	28	1	0	0	0	0	1	0	0	0	4433	1328	46	5	4232	5	DENND4A	15	66015198	Missense_Mutation	SNP	G	TCGA-CH-5762-01A-11D-1576-08	513161	66015198	36516194	89	1414											
PKM2	5315	broad.mit.edu	37	chr15	72502198	72502198	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agctccacctctgcagtgccGctctagggacaagagagtaa	11	7	11	12	1	2	1	0	0	2	1	3	3	3	2	3	1	3	4	3	1	3	2	rs61731567	byFrequency	TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr15:72502198G>A	ENST00000335181.5	-	5	484	c.381C>T	c.(379-381)agC>agT	p.S127S	PKM_ENST00000389093.3_Silent_p.S127S|PKM_ENST00000319622.6_Silent_p.S127S|PKM_ENST00000565184.1_Silent_p.S127S|PKM_ENST00000568883.1_Intron|PKM_ENST00000449901.2_Silent_p.S112S|PKM_ENST00000568459.1_Silent_p.S127S|PKM_ENST00000565154.1_Silent_p.S127S	NM_002654.4	NP_002645.3	P14618	KPYM_HUMAN	pyruvate kinase, muscle	127					carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|programmed cell death (GO:0012501)|small molecule metabolic process (GO:0044281)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular matrix (GO:0031012)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|MHC class II protein complex binding (GO:0023026)|poly(A) RNA binding (GO:0044822)|potassium ion binding (GO:0030955)|pyruvate kinase activity (GO:0004743)			endometrium(1)|lung(7)	8					Pyruvic acid(DB00119)	CTGCAGTGCCGCTCTAGGGAC	0.517													G|||	8	0.00159744	0.0061	0	5008	,	,		17846	0		0	False		,,,				2504	0					ENST00000319622.6																			0				endometrium(1)|lung(7)	8						c.(379-381)agC>agT		pyruvate kinase, muscle		G	,,,,,,	6,4392	11.4+/-27.6	0,6,2193	122	108	113		603,,336,396,381,381,381	0.6	1	15	dbSNP_129	113	1,8593	1.2+/-3.3	0,1,4296	no	coding-synonymous,intron,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	PKM2	NM_001206796.1,NM_001206797.1,NM_001206798.1,NM_001206799.1,NM_002654.4,NM_182470.2,NM_182471.2	,,,,,,	0,7,6489	AA,AG,GG		0.0116,0.1364,0.0539	,,,,,,	201/606,,112/517,132/537,127/532,127/532,127/532	72502198	7,12985	2199	4297	6496	SO:0001819	synonymous_variant	5315							g.chr15:72502198G>A	M23725	CCDS32284.1, CCDS32285.1, CCDS55972.1, CCDS73752.1	15q23	2012-10-02		2012-05-23	ENSG00000067225	ENSG00000067225	2.7.1.40		9021	protein-coding gene	gene with protein product		179050		PKM2		2040271	Standard	NM_002654		Approved	THBP1, OIP3, PK3	uc002atr.1	P14618	OTTHUMG00000172709	ENST00000335181.5:c.381C>T	15.37:g.72502198G>A						PKM_ENST00000449901.2_Silent_p.S112S|PKM_ENST00000389093.3_Silent_p.S127S|PKM_ENST00000335181.5_Silent_p.S127S|PKM_ENST00000568459.1_Silent_p.S127S|PKM_ENST00000565154.1_Silent_p.S127S|PKM_ENST00000565184.1_Silent_p.S127S|PKM_ENST00000568883.1_Intron	p.S127S	NM_001206796.1|NM_182470.2|NM_182471.2	NP_001193725.1|NP_872270.1|NP_872271.1					5	837	-								A6NFK3|B2R5N8|B3KRY0|B4DFX8|B4DUU6|P14786|Q53GK4|Q96E76|Q9BWB5|Q9UCV6|Q9UPF2	Silent	SNP	ENST00000335181.5	37	c.381C>T	CCDS32284.1																																																																																				0.517	PKM-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000420056.1			5	216	0	0	0	0.217242	0	5	216					A	72502198	G	A	72502198	2	1	28	1	0	0	0	0	0	0	0	1	11977	1078	38	1		1	PKM2	15	72502198	Silent	SNP	G	TCGA-CH-5762-01A-11D-1576-08	6487000	72502198	30029194	90	1415											
IL16	3603	broad.mit.edu	37	chr15	81598322	81598322	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggcaatgaggttctttccaTcaacggcaagtctctcaagg	10	10	11	10	1	4	1	2	1	2	0	6	1	5	1	1	4	1	3	1	4	4	2			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr15:81598322T>G	ENST00000302987.4	+	16	3494	c.3494T>G	c.(3493-3495)aTc>aGc	p.I1165S	IL16_ENST00000394652.2_Missense_Mutation_p.I464S|RP11-761I4.4_ENST00000607019.1_RNA|IL16_ENST00000394660.2_Missense_Mutation_p.I1165S			Q14005	IL16_HUMAN	interleukin 16	1165	Interaction with PPP1R12A, PPP1R12B and PPP1R12C.|PDZ 3. {ECO:0000255|PROSITE- ProRule:PRU00143}.				immune response (GO:0006955)|induction of positive chemotaxis (GO:0050930)|leukocyte chemotaxis (GO:0030595)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(3)|skin(3)|stomach(1)|urinary_tract(1)	57						GTTCTTTCCATCAACGGCAAG	0.547																																						ENST00000394660.2																			0				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(3)|skin(3)|stomach(1)|urinary_tract(1)	57						c.(3493-3495)aTc>aGc		interleukin 16							166	173	170					15																	81598322		2203	4300	6503	SO:0001583	missense	3603				immune response|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus|plasma membrane	cytokine activity	g.chr15:81598322T>G	U82972	CCDS10317.1, CCDS42069.1, CCDS53966.1	15q26.3	2011-07-14	2011-07-14		ENSG00000172349	ENSG00000172349		"Interleukins and interleukin receptors"	5980	protein-coding gene	gene with protein product	"prointerleukin 16", "lymphocyte chemoattractant factor"	603035	"interleukin 16 (lymphocyte chemoattractant factor)"			9144227	Standard	NM_004513		Approved	LCF, IL-16, prIL-16, HsT19289, FLJ42735, FLJ16806	uc021ssh.1	Q14005	OTTHUMG00000144186	ENST00000302987.4:c.3494T>G	15.37:g.81598322T>G	ENSP00000302935:p.Ile1165Ser					IL16_ENST00000394652.2_Missense_Mutation_p.I464S|RP11-761I4.4_ENST00000607019.1_RNA|IL16_ENST00000302987.4_Missense_Mutation_p.I1165S	p.I1165S	NM_001172128.1|NM_172217.3	NP_001165599.1|NP_757366.2	Q14005	IL16_HUMAN			17	3854	+			1165			Interaction with PPP1R12A, PPP1R12B and PPP1R12C.|PDZ 3.		A6NM20|A8MU65|B5TY35|B9EGR6|H3BVH5|Q16435|Q6VVE6|Q6ZMQ7|Q9UP18	Missense_Mutation	SNP	ENST00000302987.4	37	c.3494T>G	CCDS42069.1	.	.	.	.	.	.	.	.	.	.	T	15.75	2.925441	0.52759	.	.	ENSG00000172349	ENST00000394660;ENST00000355368;ENST00000302987;ENST00000329842;ENST00000394653;ENST00000394652;ENST00000394656	T;T;T	0.39592	1.07;1.07;1.07	4.64	4.64	0.57946	PDZ/DHR/GLGF (4);	0.000000	0.47455	D	0.000221	T	0.76835	0.4043	H	0.98027	4.13	0.58432	D	0.999998	D;D;D;D;D;D	0.89917	1.0;1.0;0.999;1.0;1.0;0.999	D;D;D;D;D;D	0.97110	0.999;0.999;0.974;0.998;1.0;0.994	D	0.85906	0.1437	10	0.87932	D	0	.	14.225	0.65853	0.0:0.0:0.0:1.0	.	997;658;702;555;1165;1165	F8W7Z5;Q6ZTT5;B7Z8M3;B3KY62;Q14005;Q14005-2	.;.;.;.;IL16_HUMAN;.	S	1165;997;1165;702;555;464;464	ENSP00000378155:I1165S;ENSP00000302935:I1165S;ENSP00000378147:I464S	ENSP00000302935:I1165S	I	+	2	0	IL16	79385377	1.000000	0.71417	1.000000	0.80357	0.031000	0.12232	7.224000	0.78042	1.933000	0.56026	0.533000	0.62120	ATC		0.547	IL16-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000303952.1	NM_172217		8	347	0	0	0	0.27861	0	8	347					G	81598322	T	G	81598322	3	3	28	1	0	0	0	0	1	0	0	0	7633	1435	50	5	3556	5	IL16	15	81598322	Missense_Mutation	SNP	T	TCGA-CH-5762-01A-11D-1576-08	9096124	81598322	20933070	91	1416											
POLG	5428	broad.mit.edu	37	chr15	89868709	89868709	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gcagaccaccccagctgactCcagggtggtacctgtcggca	8	6	12	15	1	0	2	0	1	0	1	2	2	1	2	5	3	2	4	5	3	1	1			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr15:89868709C>T	ENST00000268124.5	-	10	2254	c.1921G>A	c.(1921-1923)Gag>Aag	p.E641K	POLG_ENST00000442287.2_Missense_Mutation_p.E641K	NM_001126131.1|NM_002693.2	NP_001119603.1|NP_002684.1	P54098	DPOG1_HUMAN	polymerase (DNA directed), gamma	641					aging (GO:0007568)|base-excision repair, gap-filling (GO:0006287)|cell death (GO:0008219)|DNA metabolic process (GO:0006259)|DNA-dependent DNA replication (GO:0006261)|mitochondrial DNA replication (GO:0006264)	extracellular vesicular exosome (GO:0070062)|gamma DNA polymerase complex (GO:0005760)|mitochondrial inner membrane (GO:0005743)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|exonuclease activity (GO:0004527)|protease binding (GO:0002020)			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(3)|urinary_tract(2)	33	Lung NSC(78;0.0472)|all_lung(78;0.089)		STAD - Stomach adenocarcinoma(125;0.165)			CCAGCTGACTCCAGGGTGGTA	0.657								DNA polymerases (catalytic subunits)																													Colon(73;648 1203 11348 18386 27782)	ENST00000268124.5																			0				breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(3)|urinary_tract(2)	33						c.(1921-1923)Gag>Aag	DNA polymerases (catalytic subunits)	polymerase (DNA directed), gamma							58	57	57					15																	89868709		2200	4299	6499	SO:0001583	missense	5428				base-excision repair, gap-filling|cell death|DNA-dependent DNA replication	mitochondrial nucleoid	DNA binding|DNA-directed DNA polymerase activity|protease binding	g.chr15:89868709C>T	X98093	CCDS10350.1	15q24	2014-09-17			ENSG00000140521	ENSG00000140521		"DNA polymerases"	9179	protein-coding gene	gene with protein product		174763				9465903	Standard	NM_002693		Approved	POLG1, POLGA	uc002bnr.4	P54098	OTTHUMG00000149646	ENST00000268124.5:c.1921G>A	15.37:g.89868709C>T	ENSP00000268124:p.Glu641Lys					POLG_ENST00000442287.2_Missense_Mutation_p.E641K	p.E641K	NM_001126131.1|NM_002693.2	NP_001119603.1|NP_002684.1	P54098	DPOG1_HUMAN	STAD - Stomach adenocarcinoma(125;0.165)		10	2254	-	Lung NSC(78;0.0472)|all_lung(78;0.089)		641					Q8NFM2|Q92515	Missense_Mutation	SNP	ENST00000268124.5	37	c.1921G>A	CCDS10350.1	.	.	.	.	.	.	.	.	.	.	C	13.80	2.345541	0.41498	.	.	ENSG00000140521	ENST00000268124;ENST00000442287;ENST00000526314	D;D;D	0.96300	-3.97;-3.97;-3.17	4.52	2.49	0.30216	.	0.655279	0.15987	N	0.235022	D	0.92123	0.7503	L	0.42581	1.335	0.09310	N	0.999999	B	0.06786	0.001	B	0.04013	0.001	T	0.82094	-0.0627	10	0.27082	T	0.32	0.09	6.867	0.24098	0.1714:0.7354:0.0:0.0932	.	641	P54098	DPOG1_HUMAN	K	641;641;97	ENSP00000268124:E641K;ENSP00000399851:E641K;ENSP00000432389:E97K	ENSP00000268124:E641K	E	-	1	0	POLG	87669713	0.061000	0.20836	0.000000	0.03702	0.247000	0.25773	2.970000	0.49240	0.367000	0.24454	0.561000	0.74099	GAG		0.657	POLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000312854.2	NM_002693		12	194	0	0	0	0.411799	0	12	194					T	89868709	C	T	89868709	3	4	28	1	0	0	0	0	1	0	0	0	12200	864	30	3	1854	3	POLG	15	89868709	Missense_Mutation	SNP	C	TCGA-CH-5762-01A-11D-1576-08	8270387	89868709	12662683	92	1417											
CHRNE	1145	broad.mit.edu	37	chr17	4805227	4805227	+	Splice_Site	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcggagtagctcttcccacCggaaaataagcgaacagttc	12	8	9	12	3	1	0	0	0	1	0	4	3	2	2	2	2	3	3	2	2	5	4	rs121909514		TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr17:4805227C>A	ENST00000293780.4	-	5	510	c.500G>T	c.(499-501)cGc>cTc	p.R167L	CHRNE_ENST00000575637.1_Intron|C17orf107_ENST00000381365.3_3'UTR	NM_000080.3	NP_000071.1	Q04844	ACHE_HUMAN	cholinergic receptor, nicotinic, epsilon (muscle)	167			R -> L (in CMS-ACHRD; significantly reduced AChR expression). {ECO:0000269|PubMed:9158150}.		cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|muscle contraction (GO:0006936)|regulation of membrane potential (GO:0042391)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, cholinergic (GO:0007271)|transport (GO:0006810)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|cation transmembrane transporter activity (GO:0008324)			central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|lung(3)|prostate(1)	12					Galantamine(DB00674)	CTCTTCCCACCGGAAAATAAG	0.657																																						ENST00000293780.4																			0				central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|lung(3)|prostate(1)	12	GRCh37	CM970307	CHRNE	M	rs121909514	c.e5+1		cholinergic receptor, nicotinic, epsilon (muscle)							55	57	56					17																	4805227		2203	4300	6503	SO:0001630	splice_region_variant	1145				muscle contraction|synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity	g.chr17:4805227C>A	X66403	CCDS11058.1	17p13.2	2012-02-11	2012-02-07		ENSG00000108556	ENSG00000108556		"Cholinergic receptors", "Ligand-gated ion channels / Acetylcholine receptors, nicotinic"	1966	protein-coding gene	gene with protein product	"acetylcholine receptor, nicotinic, epsilon (muscle)"	100725	"cholinergic receptor, nicotinic, epsilon"			7688301	Standard	NM_000080		Approved	ACHRE	uc002fzk.1	Q04844	OTTHUMG00000090778	ENST00000293780.4:c.500+1G>T	17.37:g.4805227C>A						CHRNE_ENST00000575637.1_Intron|C17orf107_ENST00000381365.3_3'UTR	p.R167_splice	NM_000080.3	NP_000071.1	Q04844	ACHE_HUMAN			5	510	-			167		R -> L (in CMS-ACHRD; significantly reduced AChR expression).			D3DTK6	Splice_Site	SNP	ENST00000293780.4	37	c.500_splice	CCDS11058.1	.	.	.	.	.	.	.	.	.	.	C	26.9	4.777564	0.90195	.	.	ENSG00000108556	ENST00000293780	T	0.79352	-1.26	4.63	4.63	0.57726	Neurotransmitter-gated ion-channel ligand-binding (3);	0.000000	0.85682	D	0.000000	D	0.87815	0.6272	M	0.79805	2.47	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.88499	0.3081	9	.	.	.	.	15.0247	0.71659	0.0:1.0:0.0:0.0	.	167	Q04844	ACHE_HUMAN	L	167	ENSP00000293780:R167L	.	R	-	2	0	CHRNE	4746006	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	1.396000	0.34531	2.418000	0.82041	0.561000	0.74099	CGC		0.657	CHRNE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207560.3		Missense_Mutation	3	87	1	0	0.115264	0.115264	0.121411	3	87					A	4805227	C	A	4805227	5	1	28	1	0	0	0	0	0	0	1	0	3395	666	23	5	1013	5	CHRNE	17	4805227	Splice_Site	SNP	C	TCGA-CH-5762-01A-11D-1576-08		4805227	76389983	93	1418											
CHD3	1107	broad.mit.edu	37	chr17	7801306	7801307	+	Frame_Shift_Ins	INS	-	-	T																															agtgtggataaaaaggggaaINSttaccactatctagtaaaat																										TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr17:7801306_7801307insT	ENST00000330494.7	+	12	2087_2088	c.1937_1938insT	c.(1936-1941)aattacfs	p.Y647fs	CHD3_ENST00000380358.4_Frame_Shift_Ins_p.Y706fs|CHD3_ENST00000358181.4_Frame_Shift_Ins_p.Y647fs	NM_001005273.2	NP_001005273.1	Q12873	CHD3_HUMAN	chromodomain helicase DNA binding protein 3	647	Chromo 2. {ECO:0000255|PROSITE- ProRule:PRU00053}.				centrosome organization (GO:0051297)|chromatin assembly or disassembly (GO:0006333)|chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|spindle organization (GO:0007051)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|nucleolus (GO:0005730)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65		Prostate(122;0.202)				AAAAAGGGGAATTACCACTATC	0.45																																						ENST00000380358.4																			0				breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65						c.(2113-2115)atafs		chromodomain helicase DNA binding protein 3																																				SO:0001589	frameshift_variant	1107				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|zinc ion binding	g.chr17:7801306_7801307insT	U08379	CCDS32553.2, CCDS32554.1, CCDS32555.1	17p13	2013-01-28			ENSG00000170004	ENSG00000170004		"Zinc fingers, PHD-type"	1918	protein-coding gene	gene with protein product		602120				9326634, 7560064	Standard	NM_001005271		Approved	Mi-2a, ZFH, Mi2-ALPHA	uc002gjd.2	Q12873	OTTHUMG00000150427	ENST00000330494.7:c.1939dupT	17.37:g.7801308_7801308dupT	ENSP00000332628:p.Tyr647fs					CHD3_ENST00000358181.4_Frame_Shift_Ins_p.I646fs|CHD3_ENST00000330494.7_Frame_Shift_Ins_p.I646fs	p.I705fs	NM_001005271.2	NP_001005271.2	Q12873	CHD3_HUMAN			12	2115_2116	+		Prostate(122;0.202)	646					D3DTQ9|E9PG89|Q9Y4I0	Frame_Shift_Ins	INS	ENST00000330494.7	37	c.2114_2115insT	CCDS32554.1																																																																																				0.45	CHD3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318050.1	NM_001005273		29	203						29	203	---	---	---	---	T	7801307	-	T	7801306	7	5	28	1	0	1	1	0	0	0	0	0	3326	101	4	0	2264	0	CHD3	17	7801306	Frame_Shift_Ins	INS	-	TCGA-CH-5762-01A-11D-1576-08	2996079	7801306	73393904	94	1419											
ALOXE3	59344	broad.mit.edu	37	chr17	8013483	8013483	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cctcgcacagcaaatgcgtgCacagaaagtgcgtgttgttt	10	10	11	10	3	0	1	0	0	0	1	1	1	0	1	1	0	4	5	1	0	2	2			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr17:8013483C>A	ENST00000448843.2	-	10	1572	c.1232G>T	c.(1231-1233)tGc>tTc	p.C411F	ALOXE3_ENST00000380149.1_Missense_Mutation_p.C567F|ALOXE3_ENST00000318227.3_Missense_Mutation_p.C543F	NM_021628.2	NP_067641.2	Q9BYJ1	LOXE3_HUMAN	arachidonate lipoxygenase 3	411	Lipoxygenase. {ECO:0000255|PROSITE- ProRule:PRU00726}.				arachidonic acid metabolic process (GO:0019369)|ceramide biosynthetic process (GO:0046513)|establishment of skin barrier (GO:0061436)|fat cell differentiation (GO:0045444)|hepoxilin biosynthetic process (GO:0051122)|linoleic acid metabolic process (GO:0043651)|lipoxygenase pathway (GO:0019372)|peroxisome proliferator activated receptor signaling pathway (GO:0035357)|sensory perception of pain (GO:0019233)|sphingolipid metabolic process (GO:0006665)	cytoplasm (GO:0005737)	hepoxilin A3 synthase activity (GO:0051120)|iron ion binding (GO:0005506)|lyase activity (GO:0016829)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen (GO:0016702)			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)	31						CAAATGCGTGCACAGAAAGTG	0.637											OREG0024154	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000380149.1																			0				breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)	31						c.(1699-1701)tGc>tTc		arachidonate lipoxygenase 3							49	37	41					17																	8013483		2203	4300	6503	SO:0001583	missense	59344				leukotriene biosynthetic process		iron ion binding|lipoxygenase activity	g.chr17:8013483C>A	AJ269499	CCDS11130.1, CCDS54084.1	17p13.1	2009-07-10			ENSG00000179148	ENSG00000179148	1.13.11.-	"Arachidonate lipoxygenases"	13743	protein-coding gene	gene with protein product		607206					Standard	NM_021628		Approved	eLOX3, E-LOX	uc010vuo.2	Q9BYJ1	OTTHUMG00000108179	ENST00000448843.2:c.1232G>T	17.37:g.8013483C>A	ENSP00000400581:p.Cys411Phe		OREG0024154	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	646	ALOXE3_ENST00000448843.2_Missense_Mutation_p.C411F|ALOXE3_ENST00000318227.3_Missense_Mutation_p.C543F	p.C567F			Q9BYJ1	LOXE3_HUMAN			9	1730	-			411			Lipoxygenase.		B2R981|B7Z3W0|Q3ZB74|Q9H4F2|Q9HC22	Missense_Mutation	SNP	ENST00000448843.2	37	c.1700G>T	CCDS11130.1	.	.	.	.	.	.	.	.	.	.	C	11.97	1.796402	0.31777	.	.	ENSG00000179148	ENST00000380149;ENST00000318227;ENST00000448843	T;T;T	0.76060	-0.99;-0.99;-0.99	4.53	4.53	0.55603	Lipoxygenase, C-terminal (4);	0.102388	0.64402	D	0.000002	T	0.58090	0.2098	N	0.03050	-0.425	0.39619	D	0.970003	B;P;P	0.35077	0.063;0.483;0.483	B;P;P	0.45232	0.03;0.474;0.474	T	0.64927	-0.6292	10	0.51188	T	0.08	-23.8075	9.8908	0.41290	0.0:0.905:0.0:0.095	.	543;411;411	B7Z3W0;Q9BYJ1;B3KVD2	.;LOXE3_HUMAN;.	F	567;543;411	ENSP00000369494:C567F;ENSP00000314879:C543F;ENSP00000400581:C411F	ENSP00000314879:C543F	C	-	2	0	ALOXE3	7954208	0.913000	0.31002	1.000000	0.80357	0.998000	0.95712	2.536000	0.45693	2.342000	0.79632	0.643000	0.83706	TGC		0.637	ALOXE3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441475.1			3	49	1	0	6.4e-05	0.115264	7.12113e-05	3	49					A	8013483	C	A	8013483	3	1	28	1	0	0	0	0	1	0	0	0	542	710	25	5	931	5	ALOXE3	17	8013483	Missense_Mutation	SNP	C	TCGA-CH-5762-01A-11D-1576-08	212177	8013483	73181727	95	1420											
KRT38	8687	broad.mit.edu	37	chr17	39596807	39596807	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	attctcctgctccagctggcGcaccttctccaggtagttgg	5	12	10	14	1	2	0	0	0	2	0	5	0	3	0	4	3	2	5	4	3	1	4	rs150183284	byFrequency	TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr17:39596807G>A	ENST00000246646.3	-	1	366	c.367C>T	c.(367-369)Cgc>Tgc	p.R123C		NM_006771.3	NP_006762.3	O76015	KRT38_HUMAN	keratin 38	123	Coil 1A.|Rod.					extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	29		Breast(137;0.000496)				TCCAGCTGGCGCACCTTCTCC	0.582													G|||	3	0.000599042	0.0015	0.0014	5008	,	,		21666	0		0	False		,,,				2504	0					ENST00000246646.3																			0				breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	29						c.(367-369)Cgc>Tgc		keratin 38		G	CYS/ARG	13,4393	20.2+/-43.8	0,13,2190	128	112	117		367	-2	0.2	17	dbSNP_134	117	0,8600		0,0,4300	no	missense	KRT38	NM_006771.3	180	0,13,6490	AA,AG,GG		0.0,0.2951,0.1	probably-damaging	123/457	39596807	13,12993	2203	4300	6503	SO:0001583	missense	8687					intermediate filament	structural molecule activity	g.chr17:39596807G>A	Y16794	CCDS11392.1	17q21.2	2013-06-20	2006-07-17	2006-07-17	ENSG00000171360	ENSG00000171360		"-", "Intermediate filaments type I, keratins (acidic)"	6456	protein-coding gene	gene with protein product		604542	"keratin, hair, acidic, 8"	KRTHA8		9756910, 16831889	Standard	NM_006771		Approved		uc002hwq.1	O76015	OTTHUMG00000133439	ENST00000246646.3:c.367C>T	17.37:g.39596807G>A	ENSP00000246646:p.Arg123Cys						p.R123C	NM_006771.3	NP_006762.3	O76015	KRT38_HUMAN			1	366	-		Breast(137;0.000496)	123			Coil 1A.|Rod.		A2RRM5|Q6A164	Missense_Mutation	SNP	ENST00000246646.3	37	c.367C>T	CCDS11392.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	16.77	3.214771	0.58452	0.002951	0.0	ENSG00000171360	ENST00000246646	D	0.92595	-3.07	4.45	-1.97	0.07503	Filament (1);	0.000000	0.49305	D	0.000141	D	0.96445	0.8840	H	0.97962	4.115	0.23150	N	0.998216	D	0.89917	1.0	D	0.73380	0.98	D	0.90054	0.4151	10	0.87932	D	0	.	6.8792	0.24163	0.1488:0.0:0.313:0.5382	.	123	O76015	KRT38_HUMAN	C	123	ENSP00000246646:R123C	ENSP00000246646:R123C	R	-	1	0	KRT38	36850333	0.000000	0.05858	0.247000	0.24249	0.993000	0.82548	0.136000	0.15974	-0.122000	0.11766	0.650000	0.86243	CGC		0.582	KRT38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257307.2	NM_006771		5	215	0	0	0	0.184627	0	5	215					A	39596807	G	A	39596807	3	1	28	1	0	0	0	0	1	0	0	0	8475	1087	38	1	1031	1	KRT38	17	39596807	Missense_Mutation	SNP	G	TCGA-CH-5762-01A-11D-1576-08	31583324	39596807	41598403	96	1421											
SEPT4	5414	broad.mit.edu	37	chr17	56603077	56603077	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttcagcaccaagaagtttccGgtcccggtacagatcagtga	11	9	10	11	2	2	3	2	1	0	2	4	3	4	3	3	2	2	3	3	2	3	3			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr17:56603077G>C	ENST00000317268.3	-	4	693	c.517C>G	c.(517-519)Cgg>Ggg	p.R173G	SEPT4_ENST00000457347.2_Missense_Mutation_p.R188G|SEPT4_ENST00000412945.3_Missense_Mutation_p.R165G|SEPT4_ENST00000580809.1_Missense_Mutation_p.R55G|SEPT4_ENST00000583114.1_Missense_Mutation_p.R26G|SEPT4_ENST00000317256.6_Missense_Mutation_p.R154G|SEPT4_ENST00000580791.1_5'Flank|SEPT4_ENST00000579371.1_Missense_Mutation_p.R74G|RP11-112H10.4_ENST00000578022.1_RNA|SEPT4_ENST00000580844.1_Missense_Mutation_p.R74G|SEPT4_ENST00000426861.1_Missense_Mutation_p.R154G|RP11-112H10.4_ENST00000580769.1_RNA|RP11-112H10.4_ENST00000580589.1_RNA|SEPT4_ENST00000393086.1_Missense_Mutation_p.R154G	NM_004574.3	NP_004565.1	O43236	SEPT4_HUMAN	septin 4	173	Septin-type G.				apoptotic process (GO:0006915)|brain development (GO:0007420)|cell cycle (GO:0007049)|cell division (GO:0051301)|GTP catabolic process (GO:0006184)|positive regulation of apoptotic process (GO:0043065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of protein ubiquitination (GO:0031398)|regulation of apoptotic process (GO:0042981)|sperm capacitation (GO:0048240)|sperm mitochondrion organization (GO:0030382)	cytoskeleton (GO:0005856)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|sperm annulus (GO:0097227)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural molecule activity (GO:0005198)			NS(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	18	Medulloblastoma(34;0.127)|all_neural(34;0.237)					AGAAGTTTCCGGTCCCGGTAC	0.522																																						ENST00000426861.1																			0				NS(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	18						c.(460-462)Cgg>Ggg		septin 4							109	96	100					17																	56603077		2203	4300	6503	SO:0001583	missense	5414				apoptosis|cell cycle|cytokinesis|regulation of apoptosis	cytoskeleton|mitochondrion|nucleus	GTP binding|GTPase activity|protein binding|structural molecule activity	g.chr17:56603077G>C	AF073312	CCDS11609.1, CCDS11610.1, CCDS45743.1, CCDS56041.1, CCDS58581.1, CCDS58582.1	17q22	2013-01-21	2005-01-11	2005-01-12	ENSG00000108387	ENSG00000108387		"Septins"	9165	protein-coding gene	gene with protein product	"bradeoin", "septin-M"	603696	"peanut-like 2 (Drosophila)"	PNUTL2		9889007	Standard	NM_001198713		Approved	H5, CE5B3, hucep-7, ARTS, hCDCREL-2, MART	uc002iwm.2	O43236		ENST00000317268.3:c.517C>G	17.37:g.56603077G>C	ENSP00000321674:p.Arg173Gly					SEPT4_ENST00000457347.2_Missense_Mutation_p.R188G|RP11-112H10.4_ENST00000580769.1_RNA|RP11-112H10.4_ENST00000580589.1_RNA|SEPT4_ENST00000579371.1_Missense_Mutation_p.R74G|RP11-112H10.4_ENST00000578022.1_RNA|SEPT4_ENST00000317268.3_Missense_Mutation_p.R173G|SEPT4_ENST00000412945.3_Missense_Mutation_p.R165G|SEPT4_ENST00000393086.1_Missense_Mutation_p.R154G|SEPT4_ENST00000580844.1_Missense_Mutation_p.R74G|SEPT4_ENST00000317256.6_Missense_Mutation_p.R154G|SEPT4_ENST00000580809.1_Missense_Mutation_p.R55G|SEPT4_ENST00000583114.1_Missense_Mutation_p.R26G	p.R154G	NM_080415.2	NP_536340.1	O43236	SEPT4_HUMAN			4	546	-	Medulloblastoma(34;0.127)|all_neural(34;0.237)		173					B2RD42|B3KSX9|B4DXC6|B4DXV5|Q6IAP3|Q9H315|Q9UM58	Missense_Mutation	SNP	ENST00000317268.3	37	c.460C>G	CCDS11610.1	.	.	.	.	.	.	.	.	.	.	G	12.79	2.043096	0.36085	.	.	ENSG00000108387	ENST00000412945;ENST00000457347;ENST00000317256;ENST00000317268;ENST00000393086;ENST00000426861	T;T;T;T;T	0.52295	0.67;0.67;0.67;0.67;0.67	4.94	4.94	0.65067	.	0.058893	0.64402	D	0.000003	T	0.54822	0.1882	N	0.17901	0.54	0.80722	D	1	D;D;D;D;D;P;D	0.89917	1.0;0.999;0.979;0.987;1.0;0.523;1.0	D;D;P;P;D;P;D	0.97110	0.999;0.996;0.866;0.906;0.999;0.539;1.0	T	0.60146	-0.7320	10	0.87932	D	0	.	16.0453	0.80717	0.0:0.0:1.0:0.0	.	165;188;26;154;154;26;173	O43236-3;O43236-4;B3KR63;O43236-6;O43236-2;O43236-5;O43236	.;.;.;.;.;.;SEPT4_HUMAN	G	165;187;154;173;154;154	ENSP00000414779:R165G;ENSP00000321071:R154G;ENSP00000321674:R173G;ENSP00000376801:R154G;ENSP00000402348:R154G	ENSP00000321071:R154G	R	-	1	2	SEPT4	53958076	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	0.986000	0.29590	2.726000	0.93360	0.655000	0.94253	CGG		0.522	SEPT4-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000445420.1	NM_080417		8	103	0	0	0	0.335167	0	8	103					C	56603077	G	C	56603077	3	2	28	1	0	0	0	0	1	0	0	0	14066	1115	39	5	1040	5	SEPT4	17	56603077	Missense_Mutation	SNP	G	TCGA-CH-5762-01A-11D-1576-08	17006270	56603077	24592133	97	1422											
SYT4	6860	broad.mit.edu	37	chr18	40853620	40853620	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcaattcccgagagaggaatTagaacttccccaatgatatc	14	10	7	10	1	1	3	1	1	0	2	4	6	3	4	3	1	1	0	3	1	6	4			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr18:40853620T>A	ENST00000255224.3	-	2	1142	c.774A>T	c.(772-774)ctA>ctT	p.L258L	SYT4_ENST00000586678.1_Intron|SYT4_ENST00000590752.1_Silent_p.L240L	NM_020783.3	NP_065834.1	Q9H2B2	SYT4_HUMAN	synaptotagmin IV	258	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.|Phospholipid binding. {ECO:0000305}.				exocytosis (GO:0006887)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of vesicle fusion (GO:0031339)|neurotransmitter secretion (GO:0007269)	cell junction (GO:0030054)|dense core granule (GO:0031045)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|synaptic vesicle (GO:0008021)	calcium ion binding (GO:0005509)|phosphatidylserine binding (GO:0001786)|transporter activity (GO:0005215)			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	44						AGAGAGGAATTAGAACTTCCC	0.353																																					NSCLC(85;81 1419 2855 22820 35912)	ENST00000255224.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	44						c.(772-774)ctA>ctT		synaptotagmin IV							50	53	52					18																	40853620		2201	4300	6501	SO:0001819	synonymous_variant	6860					cell junction|integral to membrane|synaptic vesicle membrane	transporter activity	g.chr18:40853620T>A	BC036538	CCDS11922.1	18q12.3	2013-01-21			ENSG00000132872	ENSG00000132872		"Synaptotagmins"	11512	protein-coding gene	gene with protein product		600103				8058779	Standard	NM_020783		Approved	KIAA1342, HsT1192	uc002law.3	Q9H2B2	OTTHUMG00000132610	ENST00000255224.3:c.774A>T	18.37:g.40853620T>A						SYT4_ENST00000586678.1_Intron|SYT4_ENST00000590752.1_Silent_p.L240L	p.L258L	NM_020783.3	NP_065834.1	Q9H2B2	SYT4_HUMAN			2	1142	-			258			C2 1.|Phospholipid binding (Probable).		B4DEU3|Q9P2K4	Silent	SNP	ENST00000255224.3	37	c.774A>T	CCDS11922.1																																																																																				0.353	SYT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255851.2	NM_020783		4	127	0	0	0	0.150653	0	4	127					A	40853620	T	A	40853620	2	1	28	1	0	0	0	0	0	0	0	1	15473	1741	61	5		5	SYT4	18	40853620	Silent	SNP	T	TCGA-CH-5762-01A-11D-1576-08		40853620	37223628	98	1423											
CDH19	28513	broad.mit.edu	37	chr18	64239269	64239269	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggccgatgtgatgactagtcGtattcatttcctctggtaca	8	14	10	9	2	2	2	1	2	1	0	4	3	3	2	2	2	1	2	2	2	3	5	rs538411423		TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr18:64239269G>A	ENST00000540086.1	-	2	419	c.173C>T	c.(172-174)aCg>aTg	p.T58M	CDH19_ENST00000262150.2_Missense_Mutation_p.T58M	NM_001271028.1	NP_001257957.1	Q96JQ0	PCD16_HUMAN	cadherin 19, type 2	158	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|calcium-dependent cell-cell adhesion (GO:0016339)|cochlea development (GO:0090102)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|neural tube development (GO:0021915)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|post-anal tail morphogenesis (GO:0036342)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.T58M(1)		NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(22)|ovary(1)|prostate(3)|skin(7)	61		Esophageal squamous(42;0.0132)				ATGACTAGTCGTATTCATTTC	0.373																																						ENST00000262150.2																			1	Substitution - Missense(1)	p.T58M(1)	prostate(1)	NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(22)|ovary(1)|prostate(3)|skin(7)	61						c.(172-174)aCg>aTg		cadherin 19, type 2							97	90	92					18																	64239269		2203	4300	6503	SO:0001583	missense	28513				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr18:64239269G>A	AJ007607	CCDS11994.1, CCDS59325.1	18q22.1	2010-01-26			ENSG00000071991	ENSG00000071991		"Cadherins / Major cadherins"	1758	protein-coding gene	gene with protein product		603016				10995570	Standard	NM_021153		Approved	CDH7	uc002lkc.2	Q9H159	OTTHUMG00000132802	ENST00000540086.1:c.173C>T	18.37:g.64239269G>A	ENSP00000439593:p.Thr58Met					CDH19_ENST00000540086.1_Missense_Mutation_p.T58M	p.T58M	NM_021153.2	NP_066976.1	Q9H159	CAD19_HUMAN			2	465	-		Esophageal squamous(42;0.0132)	58			Cadherin 1.		O15098	Missense_Mutation	SNP	ENST00000540086.1	37	c.173C>T	CCDS59325.1	.	.	.	.	.	.	.	.	.	.	G	10.48	1.362561	0.24684	.	.	ENSG00000071991	ENST00000262150;ENST00000540086;ENST00000454642	T;T	0.58358	0.34;0.34	5.83	-2.16	0.07080	Cadherin (2);Cadherin-like (1);	0.867999	0.10108	N	0.715093	T	0.33089	0.0851	N	0.20807	0.61	0.09310	N	1	P;P	0.51449	0.945;0.914	B;B	0.43251	0.289;0.413	T	0.28202	-1.0051	10	0.87932	D	0	.	4.5431	0.12067	0.0678:0.3189:0.3007:0.3126	.	58;58	F5H1K0;Q9H159	.;CAD19_HUMAN	M	58;58;3	ENSP00000262150:T58M;ENSP00000439593:T58M	ENSP00000262150:T58M	T	-	2	0	CDH19	62390249	0.000000	0.05858	0.000000	0.03702	0.171000	0.22731	-0.328000	0.07945	0.042000	0.15717	0.655000	0.94253	ACG		0.373	CDH19-005	PUTATIVE	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000442285.1	NM_021153		21	109	0	0	0	0.624587	0	21	109					A	64239269	G	A	64239269	3	1	28	1	0	0	0	0	1	0	0	0	3104	1145	40	1	2189	1	CDH19	18	64239269	Missense_Mutation	SNP	G	TCGA-CH-5762-01A-11D-1576-08	23385649	64239269	13837979	99	1424											
MUC16	94025	broad.mit.edu	37	chr19	9074121	9074121	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgccacagagggagggcttGtccaggacacatccttggga	9	7	14	11	0	0	1	0	0	0	1	2	4	2	4	3	4	1	1	3	4	0	2	rs574638609		TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr19:9074121G>C	ENST00000397910.4	-	3	13528	c.13325C>G	c.(13324-13326)aCa>aGa	p.T4442R		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	4444	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GGGAGGGCTTGTCCAGGACAC	0.493																																						ENST00000397910.4																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(13324-13326)aCa>aGa		mucin 16, cell surface associated							124	121	122					19																	9074121		2042	4183	6225	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9074121G>C	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.13325C>G	19.37:g.9074121G>C	ENSP00000381008:p.Thr4442Arg						p.T4442R	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			3	13528	-			4444			Thr-rich.		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.13325C>G	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	g	7.315	0.615802	0.14129	.	.	ENSG00000181143	ENST00000397910	T	0.23147	1.92	1.99	0.874	0.19124	.	.	.	.	.	T	0.28067	0.0692	L	0.53249	1.67	.	.	.	D	0.62365	0.991	P	0.48840	0.592	T	0.39333	-0.9619	8	0.87932	D	0	.	6.4795	0.22055	0.0:0.304:0.696:0.0	.	4442	B5ME49	.	R	4442	ENSP00000381008:T4442R	ENSP00000381008:T4442R	T	-	2	0	MUC16	8935121	0.000000	0.05858	0.000000	0.03702	0.617000	0.37484	-0.041000	0.12084	0.382000	0.24878	0.305000	0.20034	ACA		0.493	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		13	186	0	0	0	0.435327	0	13	186					C	9074121	G	C	9074121	3	2	28	1	0	0	0	0	1	0	0	0	9973	1377	48	5	30526	5	MUC16	19	9074121	Missense_Mutation	SNP	G	TCGA-CH-5762-01A-11D-1576-08		9074121	50054862	100	1425											
C19orf57	79173	broad.mit.edu	37	chr19	14015677	14015677	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccatttgaatgaacgtacctGaggtccgcagcttcttcctc	8	12	8	13	2	1	3	0	3	1	0	4	3	3	3	4	1	3	3	4	1	3	4			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr19:14015677G>A	ENST00000586783.1	-	1	28	c.29C>T	c.(28-30)tCa>tTa	p.S10L	C19orf57_ENST00000591586.1_Missense_Mutation_p.S10L|CC2D1A_ENST00000589606.1_5'Flank|C19orf57_ENST00000346736.2_Missense_Mutation_p.S10L|CC2D1A_ENST00000318003.7_5'Flank|C19orf57_ENST00000454313.1_Missense_Mutation_p.S10L			Q0VDD7	CS057_HUMAN	chromosome 19 open reading frame 57	10					multicellular organismal development (GO:0007275)			p.S10L(1)		breast(2)|kidney(1)|lung(3)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(19;2e-21)			GAACGTACCTGAGGTCCGCAG	0.413																																						ENST00000454313.1																			1	Substitution - Missense(1)	p.S10L(1)	prostate(1)	breast(2)|kidney(1)|lung(3)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	14						c.(28-30)tCa>tTa		chromosome 19 open reading frame 57							209	179	189					19																	14015677		2203	4300	6503	SO:0001583	missense	79173				multicellular organismal development		protein binding	g.chr19:14015677G>A	BC012945	CCDS12299.1	19p13.12	2012-10-26			ENSG00000132016	ENSG00000132016			28153	protein-coding gene	gene with protein product						8228263	Standard	NM_024323		Approved	MGC11271	uc002mxl.1	Q0VDD7	OTTHUMG00000181851	ENST00000586783.1:c.29C>T	19.37:g.14015677G>A	ENSP00000465822:p.Ser10Leu					C19orf57_ENST00000586783.1_Missense_Mutation_p.S10L|C19orf57_ENST00000591586.1_Missense_Mutation_p.S10L|C19orf57_ENST00000346736.2_Missense_Mutation_p.S10L	p.S10L			Q0VDD7	CS057_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;2e-21)		2	87	-			10					Q13411|Q8N825|Q96D63|Q9BU49	Missense_Mutation	SNP	ENST00000586783.1	37	c.29C>T		.	.	.	.	.	.	.	.	.	.	G	16.05	3.011897	0.54468	.	.	ENSG00000132016	ENST00000454313;ENST00000346736	T;T	0.26957	1.7;1.7	4.67	4.67	0.58626	.	0.290400	0.18850	N	0.129438	T	0.37046	0.0989	L	0.32530	0.975	0.37494	D	0.916487	D	0.71674	0.998	D	0.66979	0.948	T	0.19582	-1.0301	10	0.44086	T	0.13	-12.9188	12.9214	0.58234	0.0:0.0:1.0:0.0	.	10	Q0VDD7-2	.	L	10	ENSP00000404382:S10L;ENSP00000254336:S10L	ENSP00000254336:S10L	S	-	2	0	C19orf57	13876677	0.996000	0.38824	0.985000	0.45067	0.225000	0.24961	3.844000	0.55873	2.430000	0.82344	0.655000	0.94253	TCA		0.413	C19orf57-003	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000457947.1	NM_024323		27	155	0	0	0	0.706142	0	27	155					A	14015677	G	A	14015677	3	1	28	1	0	0	0	0	1	0	0	0	1939	1294	45	3	1912	3	C19orf57	19	14015677	Missense_Mutation	SNP	G	TCGA-CH-5762-01A-11D-1576-08	4941556	14015677	45113306	101	1426											
HAPLN4	404037	broad.mit.edu	37	chr19	19371864	19371864	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ttgtccacttgagccggacgCcgtcgtgaccgtgggcggct	4	9	15	13	6	0	2	0	2	0	0	2	3	1	3	4	3	1	1	4	3	0	2			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr19:19371864C>T	ENST00000291481.7	-	3	305	c.242G>A	c.(241-243)gGc>gAc	p.G81D	AC138430.4_ENST00000586064.2_RNA	NM_023002.2	NP_075378.1	Q86UW8	HPLN4_HUMAN	hyaluronan and proteoglycan link protein 4	81	Ig-like C2-type.				cell adhesion (GO:0007155)	proteinaceous extracellular matrix (GO:0005578)	hyaluronic acid binding (GO:0005540)	p.G81D(1)		NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|pancreas(1)|prostate(1)	16			Epithelial(12;0.00575)		Hyaluronan(DB08818)	GAGCCGGACGCCGTCGTGACC	0.667																																						ENST00000291481.7																			1	Substitution - Missense(1)	p.G81D(1)	prostate(1)	NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|pancreas(1)|prostate(1)	16						c.(241-243)gGc>gAc		hyaluronan and proteoglycan link protein 4							36	35	35					19																	19371864		2203	4299	6502	SO:0001583	missense	404037				cell adhesion	proteinaceous extracellular matrix	hyaluronic acid binding	g.chr19:19371864C>T	AB107883	CCDS12398.1	19p13.1	2013-01-11						"Immunoglobulin superfamily / V-set domain containing"	31357	protein-coding gene	gene with protein product	"brain link protein 2"					12663660	Standard	NM_023002		Approved	BRAL2, KIAA1926	uc002nmb.3	Q86UW8		ENST00000291481.7:c.242G>A	19.37:g.19371864C>T	ENSP00000291481:p.Gly81Asp					AC138430.4_ENST00000586064.2_RNA	p.G81D	NM_023002.2	NP_075378.1	Q86UW8	HPLN4_HUMAN	Epithelial(12;0.00575)		3	305	-			81			Ig-like C2-type.		A5PKW5|Q96PW2	Missense_Mutation	SNP	ENST00000291481.7	37	c.242G>A	CCDS12398.1	.	.	.	.	.	.	.	.	.	.	C	12.42	1.933260	0.34096	.	.	ENSG00000187664	ENST00000291481	T	0.63913	-0.07	4.52	3.38	0.38709	Immunoglobulin V-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.320352	0.28583	N	0.014822	T	0.44371	0.1290	N	0.19112	0.55	0.31651	N	0.646846	P	0.43352	0.804	P	0.47346	0.544	T	0.45600	-0.9250	10	0.12430	T	0.62	-11.0763	3.0061	0.06028	0.0:0.5015:0.2657:0.2328	.	81	Q86UW8	HPLN4_HUMAN	D	81	ENSP00000291481:G81D	ENSP00000291481:G81D	G	-	2	0	HAPLN4	19232864	0.967000	0.33354	1.000000	0.80357	0.532000	0.34746	3.194000	0.51005	1.042000	0.40150	0.561000	0.74099	GGC		0.667	HAPLN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460117.2	NM_023002		9	49	0	0	0	0.361761	0	9	49					T	19371864	C	T	19371864	3	4	28	1	0	0	0	0	1	0	0	0	6957	739	26	3	978	3	HAPLN4	19	19371864	Missense_Mutation	SNP	C	TCGA-CH-5762-01A-11D-1576-08	5356187	19371864	39757119	102	1427											
FAM98C	147965	broad.mit.edu	37	chr19	38895746	38895746	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagctgctgcaggagttgcAtgctaaggtagagagtcaga	11	8	14	8	0	1	2	1	0	0	2	1	4	1	3	1	2	5	7	1	2	2	3			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr19:38895746A>T	ENST00000252530.5	+	4	567	c.548A>T	c.(547-549)cAt>cTt	p.H183L	FAM98C_ENST00000343358.7_Missense_Mutation_p.H183L|FAM98C_ENST00000588262.1_Intron|FAM98C_ENST00000585954.1_3'UTR	NM_174905.3	NP_777565.3	Q17RN3	FA98C_HUMAN	family with sequence similarity 98, member C	183								p.H183L(1)		endometrium(2)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	15	all_cancers(60;3.95e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			CAGGAGTTGCATGCTAAGGTA	0.627																																						ENST00000252530.5																			1	Substitution - Missense(1)	p.H183L(1)	prostate(1)	endometrium(2)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	15						c.(547-549)cAt>cTt		family with sequence similarity 98, member C							24	30	28					19																	38895746		2071	4221	6292	SO:0001583	missense	147965							g.chr19:38895746A>T		CCDS42562.1	19q13.2	2008-02-05				ENSG00000130244			27119	protein-coding gene	gene with protein product						12477932	Standard	NM_174905		Approved	FLJ44669	uc002oin.1	Q17RN3		ENST00000252530.5:c.548A>T	19.37:g.38895746A>T	ENSP00000252530:p.His183Leu					FAM98C_ENST00000588262.1_Intron|FAM98C_ENST00000585954.1_3'UTR|FAM98C_ENST00000343358.7_Missense_Mutation_p.H183L	p.H183L	NM_174905.3	NP_777565.3	Q17RN3	FA98C_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		4	567	+	all_cancers(60;3.95e-06)		183					A6NMW3|Q66K45	Missense_Mutation	SNP	ENST00000252530.5	37	c.548A>T	CCDS42562.1	.	.	.	.	.	.	.	.	.	.	A	15.69	2.907085	0.52333	.	.	ENSG00000130244	ENST00000252530;ENST00000343358	T;T	0.42513	0.97;0.97	4.72	4.72	0.59763	.	0.144723	0.31922	N	0.006841	T	0.34919	0.0914	L	0.46741	1.465	0.40491	D	0.980544	P;B	0.43352	0.804;0.166	B;B	0.40066	0.318;0.063	T	0.14755	-1.0461	10	0.29301	T	0.29	2.4985	10.5727	0.45209	1.0:0.0:0.0:0.0	.	183;183	Q17RN3-2;Q17RN3	.;FA98C_HUMAN	L	183	ENSP00000252530:H183L;ENSP00000340348:H183L	ENSP00000252530:H183L	H	+	2	0	FAM98C	43587586	0.987000	0.35691	0.996000	0.52242	0.969000	0.65631	2.791000	0.47829	1.981000	0.57761	0.456000	0.33151	CAT		0.627	FAM98C-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000459222.1	NM_174905		16	66	0	0	0	0.539581	0	16	66					T	38895746	A	T	38895746	3	4	28	1	0	0	0	0	1	0	0	0	5658	217	8	5	562	5	FAM98C	19	38895746	Missense_Mutation	SNP	A	TCGA-CH-5762-01A-11D-1576-08	19523882	38895746	20233237	103	1428											
ZNF264	9422	broad.mit.edu	37	chr19	57723318	57723326	+	In_Frame_Del	DEL	AAGCCTTAC	AAGCCTTAC	-																															agcggattcacagtggagagAagccttacaagtgcaatgaa																								rs149508999|rs372708924		TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr19:57723318_57723326delAAGCCTTAC	ENST00000263095.6	+	4	1267_1275	c.853_861delAAGCCTTAC	c.(853-861)aagccttacdel	p.KPY285del	ZNF264_ENST00000536056.1_In_Frame_Del_p.KPY285del	NM_003417.4	NP_003408.1	O43296	ZN264_HUMAN	zinc finger protein 264	285					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(8)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	27		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0135)		CAGTGGAGAGAAGCCTTACAAGTGCAATG	0.507																																						ENST00000263095.6																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(8)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	27						c.(853-861)del		zinc finger protein 264																																				SO:0001651	inframe_deletion	0				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57723318_57723326delAAGCCTTAC	AB007872	CCDS33127.1	19q13.4	2013-01-08				ENSG00000083844		"Zinc fingers, C2H2-type", "-"	13057	protein-coding gene	gene with protein product		604668				9455477	Standard	NM_003417		Approved	KIAA0412	uc002qob.3	O43296		ENST00000263095.6:c.853_861delAAGCCTTAC	19.37:g.57723318_57723326delAAGCCTTAC	ENSP00000263095:p.Lys285_Tyr287del					ZNF264_ENST00000536056.1_In_Frame_Del_p.KPY285del	p.KPY285del	NM_003417.4	NP_003408.1	O43296	ZN264_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0135)	4	1267_1275	+		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)	285					A8K8Y9|Q9P1V0	In_Frame_Del	DEL	ENST00000263095.6	37	c.853_861delAAGCCTTAC	CCDS33127.1																																																																																				0.507	ZNF264-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465080.1			14	144						14	144	---	---	---	---	-	57723326	AAGCCTTAC	-	57723318	7	5	28	1	0	1	0	1	0	0	0	0	17801	247	9	0	867	0	ZNF264	19	57723318	In_Frame_Del	DEL	AAGCCTTAC	TCGA-CH-5762-01A-11D-1576-08	18827572	57723318	1405665	104	1429											
BFSP1	631	broad.mit.edu	37	chr20	17475376	17475376	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cttctcactttctccttgacCttcctgtatagtttcccaaa	7	17	3	14	0	2	1	1	1	2	0	6	1	4	1	4	0	0	2	4	0	3	7			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr20:17475376C>A	ENST00000377873.3	-	8	1380	c.1341G>T	c.(1339-1341)aaG>aaT	p.K447N	BFSP1_ENST00000544874.1_Missense_Mutation_p.K308N|BFSP1_ENST00000536626.1_Missense_Mutation_p.K308N|BFSP1_ENST00000377868.2_Missense_Mutation_p.K322N	NM_001195.3	NP_001186.1	Q12934	BFSP1_HUMAN	beaded filament structural protein 1, filensin	447	Tail.				cell maturation (GO:0048469)|lens fiber cell development (GO:0070307)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|intermediate filament (GO:0005882)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)|structural constituent of eye lens (GO:0005212)	p.K447N(1)		central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(7)|prostate(2)|skin(1)|stomach(1)	18						TCTCCTTGACCTTCCTGTATA	0.527																																						ENST00000377873.3																			1	Substitution - Missense(1)	p.K447N(1)	prostate(1)	central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(7)|prostate(2)|skin(1)|stomach(1)	18						c.(1339-1341)aaG>aaT		beaded filament structural protein 1, filensin							122	122	122					20																	17475376		2203	4300	6503	SO:0001583	missense	631					cytoplasm|intermediate filament|membrane	structural constituent of cytoskeleton|structural constituent of eye lens	g.chr20:17475376C>A	Y16717	CCDS13126.1, CCDS54448.1, CCDS63229.1	20p12.1	2014-06-05			ENSG00000125864	ENSG00000125864		"Intermediate filaments type VI, eye lens intermediate filaments"	1040	protein-coding gene	gene with protein product		603307				9787085	Standard	NM_001161705		Approved	CP94, CP115, LIFL-H, filensin	uc002wpo.3	Q12934	OTTHUMG00000031940	ENST00000377873.3:c.1341G>T	20.37:g.17475376C>A	ENSP00000367104:p.Lys447Asn					BFSP1_ENST00000377868.2_Missense_Mutation_p.K322N|BFSP1_ENST00000544874.1_Missense_Mutation_p.K308N|BFSP1_ENST00000536626.1_Missense_Mutation_p.K308N	p.K447N	NM_001195.3	NP_001186.1	Q12934	BFSP1_HUMAN			8	1380	-			447			Tail.		F5H0G1|O43595|O76034|O95676|Q8IVZ6|Q9HBX4	Missense_Mutation	SNP	ENST00000377873.3	37	c.1341G>T	CCDS13126.1	.	.	.	.	.	.	.	.	.	.	C	9.916	1.210917	0.22289	.	.	ENSG00000125864	ENST00000377873;ENST00000377868;ENST00000536626;ENST00000544874	T;T;T;T	0.44083	0.93;0.93;0.93;0.93	5.21	3.04	0.35103	.	0.401550	0.28784	N	0.014153	T	0.26919	0.0659	N	0.19112	0.55	0.20563	N	0.999881	B;B	0.25719	0.053;0.132	B;B	0.24701	0.053;0.055	T	0.25293	-1.0136	10	0.72032	D	0.01	-11.1024	9.0518	0.36380	0.1852:0.7218:0.0:0.093	.	322;447	Q12934-2;Q12934	.;BFSP1_HUMAN	N	447;322;308;308	ENSP00000367104:K447N;ENSP00000367099:K322N;ENSP00000442522:K308N;ENSP00000439870:K308N	ENSP00000367099:K322N	K	-	3	2	BFSP1	17423376	0.898000	0.30612	0.938000	0.37757	0.311000	0.27955	0.338000	0.19858	1.143000	0.42306	0.655000	0.94253	AAG		0.527	BFSP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078119.6	NM_001195		35	217	1	0	6.29468e-14	0.804634	7.20696e-14	35	217					A	17475376	C	A	17475376	3	1	28	1	0	0	0	0	1	0	0	0	1415	680	24	5	660	5	BFSP1	20	17475376	Missense_Mutation	SNP	C	TCGA-CH-5762-01A-11D-1576-08		17475376	45550144	105	1430											
RAE1	8480	broad.mit.edu	37	chr20	55948566	55948566	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atttttaaagacaaacagaaCaagcctactggttttgccct	14	12	6	9	0	0	2	0	0	0	2	0	2	0	2	2	1	5	1	2	1	6	6			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr20:55948566C>G	ENST00000395841.2	+	9	1098	c.678C>G	c.(676-678)aaC>aaG	p.N226K	RAE1_ENST00000395840.2_Missense_Mutation_p.N226K|RAE1_ENST00000371242.2_Missense_Mutation_p.N226K|RAE1_ENST00000527947.1_Missense_Mutation_p.N226K	NM_003610.3	NP_003601.1	P78406	RAE1L_HUMAN	ribonucleic acid export 1	226					carbohydrate metabolic process (GO:0005975)|cellular response to organic cyclic compound (GO:0071407)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA export from nucleus (GO:0006406)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nuclear envelope (GO:0005635)|nuclear outer membrane (GO:0005640)|nuclear pore (GO:0005643)|nucleolus (GO:0005730)|nucleus (GO:0005634)	microtubule binding (GO:0008017)|RNA binding (GO:0003723)	p.N226K(1)		breast(1)|endometrium(5)|large_intestine(4)|lung(6)|prostate(3)|skin(2)	21	Lung NSC(12;0.00263)|all_lung(29;0.00828)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(4;3.7e-14)|Epithelial(14;1.07e-09)|all cancers(14;1.11e-08)			ACAAACAGAACAAGCCTACTG	0.408																																						ENST00000395841.2																			1	Substitution - Missense(1)	p.N226K(1)	prostate(1)	breast(1)|endometrium(5)|large_intestine(4)|lung(6)|prostate(3)|skin(2)	21						c.(676-678)aaC>aaG		ribonucleic acid export 1							117	117	117					20																	55948566		2203	4300	6503	SO:0001583	missense	8480				carbohydrate metabolic process|glucose transport|mRNA export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytoplasm|cytoskeleton|nuclear outer membrane|nuclear pore	microtubule binding|RNA binding	g.chr20:55948566C>G	U84720	CCDS13458.1	20q13.31	2013-08-28	2013-08-28		ENSG00000101146	ENSG00000101146		"WD repeat domain containing"	9828	protein-coding gene	gene with protein product		603343	"RAE1 (RNA export 1, S.pombe) homolog", "RAE1 RNA export 1 homolog (S. pombe)"			9370289, 9256445	Standard	XM_005260582		Approved	Mnrp41	uc002xyi.3	P78406	OTTHUMG00000032819	ENST00000395841.2:c.678C>G	20.37:g.55948566C>G	ENSP00000379182:p.Asn226Lys					RAE1_ENST00000371242.2_Missense_Mutation_p.N226K|RAE1_ENST00000527947.1_Missense_Mutation_p.N226K|RAE1_ENST00000395840.2_Missense_Mutation_p.N226K	p.N226K	NM_003610.3	NP_003601.1	P78406	RAE1L_HUMAN	BRCA - Breast invasive adenocarcinoma(4;3.7e-14)|Epithelial(14;1.07e-09)|all cancers(14;1.11e-08)		9	1098	+	Lung NSC(12;0.00263)|all_lung(29;0.00828)|Melanoma(10;0.242)		226					A8K882|O15306|Q3SYL7|Q5TCH8|Q6V708|Q9H100|Q9NQM6	Missense_Mutation	SNP	ENST00000395841.2	37	c.678C>G	CCDS13458.1	.	.	.	.	.	.	.	.	.	.	C	8.797	0.931995	0.18131	.	.	ENSG00000101146	ENST00000395841;ENST00000371242;ENST00000527947;ENST00000395840	T;T;T;T	0.70399	-0.48;-0.48;-0.48;-0.48	6.02	2.75	0.32379	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.270986	0.47093	D	0.000249	T	0.26774	0.0655	N	0.00823	-1.155	0.46437	D	0.999044	P;B;B	0.40875	0.731;0.001;0.001	B;B;B	0.27262	0.078;0.0;0.0	T	0.52434	-0.8576	10	0.02654	T	1	-24.9704	9.7431	0.40431	0.0:0.7287:0.0:0.2713	.	226;226;226	E9PQ57;A8K882;P78406	.;.;RAE1L_HUMAN	K	226	ENSP00000379182:N226K;ENSP00000360286:N226K;ENSP00000432609:N226K;ENSP00000379181:N226K	ENSP00000360286:N226K	N	+	3	2	RAE1	55381973	1.000000	0.71417	1.000000	0.80357	0.243000	0.25628	1.694000	0.37752	0.893000	0.36288	-0.140000	0.14226	AAC		0.408	RAE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079842.2			24	176	0	0	0	0.654019	0	24	176					G	55948566	C	G	55948566	3	3	28	1	0	0	0	0	1	0	0	0	12998	477	17	5	708	5	RAE1	20	55948566	Missense_Mutation	SNP	C	TCGA-CH-5762-01A-11D-1576-08	38473190	55948566	7076954	106	1431											
CDH4	1002	broad.mit.edu	37	chr20	60504782	60504782	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tccaacacgtccatcatcaaAgtcaaggtgtgcccatgtga	12	9	8	12	1	3	1	3	1	0	0	5	1	5	1	3	1	2	0	3	1	3	0			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr20:60504782A>T	ENST00000360469.5	+	13	2209	c.2121A>T	c.(2119-2121)aaA>aaT	p.K707N	CDH4_ENST00000543233.1_Missense_Mutation_p.K633N	NM_001794.3	NP_001785.2	P55283	CADH4_HUMAN	cadherin 4, type 1, R-cadherin (retinal)	707	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74			BRCA - Breast invasive adenocarcinoma(19;2.36e-08)			CCATCATCAAAGTCAAGGTGT	0.592																																						ENST00000360469.5																			0				NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74						c.(2119-2121)aaA>aaT		cadherin 4, type 1, R-cadherin (retinal)							179	130	146					20																	60504782		2203	4300	6503	SO:0001583	missense	1002				adherens junction organization|cell junction assembly		calcium ion binding	g.chr20:60504782A>T	L34059	CCDS13488.1, CCDS58784.1	20q13.3	2010-01-26			ENSG00000179242	ENSG00000179242		"Cadherins / Major cadherins"	1763	protein-coding gene	gene with protein product	"R-Cadherin"	603006				10191097, 10516427	Standard	NM_001794		Approved		uc002ybn.2	P55283	OTTHUMG00000032890	ENST00000360469.5:c.2121A>T	20.37:g.60504782A>T	ENSP00000353656:p.Lys707Asn					CDH4_ENST00000543233.1_Missense_Mutation_p.K633N	p.K707N	NM_001794.3	NP_001785.2	P55283	CADH4_HUMAN	BRCA - Breast invasive adenocarcinoma(19;2.36e-08)		13	2209	+			707			Cadherin 5.		B3KWB8|G3V1P8|Q2M208|Q5VZ44|Q9BZ05	Missense_Mutation	SNP	ENST00000360469.5	37	c.2121A>T	CCDS13488.1	.	.	.	.	.	.	.	.	.	.	A	16.28	3.079953	0.55753	.	.	ENSG00000179242	ENST00000360469;ENST00000536643;ENST00000543233	T;T	0.60672	0.17;0.17	4.08	-3.76	0.04359	Cadherin (3);Cadherin-like (1);	0.121949	0.64402	D	0.000018	T	0.50769	0.1635	L	0.40543	1.245	0.41855	D	0.990196	P	0.52842	0.956	P	0.52424	0.698	T	0.52388	-0.8582	9	.	.	.	.	10.5319	0.44981	0.2217:0.0:0.6707:0.1076	.	707	P55283	CADH4_HUMAN	N	707;615;633	ENSP00000353656:K707N;ENSP00000443301:K633N	.	K	+	3	2	CDH4	59938177	0.015000	0.18098	0.996000	0.52242	0.930000	0.56654	-0.918000	0.04021	-0.430000	0.07318	-0.441000	0.05720	AAA		0.592	CDH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079965.2	NM_001794		5	199	0	0	0	0.184627	0	5	199					T	60504782	A	T	60504782	3	4	28	1	0	0	0	0	1	0	0	0	3112	69	3	5	2171	5	CDH4	20	60504782	Missense_Mutation	SNP	A	TCGA-CH-5762-01A-11D-1576-08	4556216	60504782	2520738	107	1432											
EEF1A2	1917	broad.mit.edu	37	chr20	62121900	62121900	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cccacacacgttgccccgccGgatgtccttcaccgacacgt	7	7	8	19	5	1	0	1	0	0	0	2	2	2	1	6	1	1	1	6	1	0	2			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr20:62121900G>A	ENST00000298049.7	-	5	1031	c.961C>T	c.(961-963)Cgg>Tgg	p.R321W	EEF1A2_ENST00000217182.3_Missense_Mutation_p.R321W			Q05639	EF1A2_HUMAN	eukaryotic translation elongation factor 1 alpha 2	321					positive regulation of apoptotic process (GO:0043065)|response to inorganic substance (GO:0010035)	eukaryotic translation elongation factor 1 complex (GO:0005853)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|translation elongation factor activity (GO:0003746)|translation factor activity, nucleic acid binding (GO:0008135)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(14)|stomach(1)	20	all_cancers(38;9.45e-12)		BRCA - Breast invasive adenocarcinoma(10;1.22e-05)			TTGCCCCGCCGGATGTCCTTC	0.647																																						ENST00000217182.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(14)|stomach(1)	20						c.(961-963)Cgg>Tgg		eukaryotic translation elongation factor 1 alpha 2							105	95	98					20																	62121900		2199	4294	6493	SO:0001583	missense	1917					nucleus	GTP binding|GTPase activity|protein binding|translation elongation factor activity	g.chr20:62121900G>A	AF163763	CCDS13522.1	20q13.3	2010-06-03			ENSG00000101210	ENSG00000101210			3192	protein-coding gene	gene with protein product		602959	"statin-like", "statin"	STNL, STN		8354261, 8812466	Standard	NM_001958		Approved	EEF1AL, HS1	uc002yfe.2	Q05639	OTTHUMG00000033076	ENST00000298049.7:c.961C>T	20.37:g.62121900G>A	ENSP00000298049:p.Arg321Trp					EEF1A2_ENST00000298049.7_Missense_Mutation_p.R321W	p.R321W	NM_001958.3	NP_001949.1	Q05639	EF1A2_HUMAN	BRCA - Breast invasive adenocarcinoma(10;1.22e-05)		6	1126	-	all_cancers(38;9.45e-12)		321					B5BUF3|E1P5J1|P54266|Q0VGC7	Missense_Mutation	SNP	ENST00000298049.7	37	c.961C>T	CCDS13522.1	.	.	.	.	.	.	.	.	.	.	G	24.0	4.484653	0.84854	.	.	ENSG00000101210	ENST00000298049;ENST00000217182	T;T	0.65364	-0.15;-0.15	3.82	3.82	0.43975	Translation elongation factor EFTu/EF1A, domain 2 (1);Translation elongation/initiation factor/Ribosomal, beta-barrel (1);	0.060988	0.64402	D	0.000003	D	0.84960	0.5588	H	0.96111	3.77	0.80722	D	1	D;D	0.76494	0.999;0.996	D;P	0.73708	0.981;0.863	D	0.90724	0.4637	10	0.87932	D	0	-37.6506	16.0768	0.80974	0.0:0.0:1.0:0.0	.	297;321	Q59GP5;Q05639	.;EF1A2_HUMAN	W	321	ENSP00000298049:R321W;ENSP00000217182:R321W	ENSP00000217182:R321W	R	-	1	2	EEF1A2	61592344	1.000000	0.71417	1.000000	0.80357	0.592000	0.36648	9.616000	0.98359	1.847000	0.53656	0.556000	0.70494	CGG		0.647	EEF1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080495.1	NM_001958		13	228	0	0	0	0.479597	0	13	228					A	62121900	G	A	62121900	3	1	28	1	0	0	0	0	1	0	0	0	4924	1115	39	2	442	2	EEF1A2	20	62121900	Missense_Mutation	SNP	G	TCGA-CH-5762-01A-11D-1576-08	1617118	62121900	903620	108	1433											
SRRD	402055	broad.mit.edu	37	chr22	26884148	26884148	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	aagagagatcttggtcacagGaacctgccatttgaagtgtg	12	10	12	7	0	2	3	1	1	1	2	2	5	2	4	2	2	2	0	2	2	3	2			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr22:26884148G>C	ENST00000215917.7	+	3	418	c.404G>C	c.(403-405)gGa>gCa	p.G135A		NM_001013694.2	NP_001013716.2	Q9UH36	SRR1L_HUMAN	SRR1 domain containing	135					rhythmic process (GO:0048511)			p.G135E(1)|p.G135A(1)		endometrium(1)|large_intestine(1)|lung(1)|prostate(1)	4						TTGGTCACAGGAACCTGCCAT	0.468																																						ENST00000215917.6																			2	Substitution - Missense(2)	p.G135E(1)|p.G135A(1)	prostate(1)|endometrium(1)	endometrium(1)|large_intestine(1)|lung(1)|prostate(1)	4						c.(403-405)gGa>gCa		SRR1 domain containing							137	136	137					22																	26884148		2021	4207	6228	SO:0001583	missense	402055				rhythmic process			g.chr22:26884148G>C	BC066962	CCDS42995.1	22q12.1	2008-10-31			ENSG00000100104	ENSG00000100104			33910	protein-coding gene	gene with protein product	"hepatocellular carcinoma complicating hemochromatosis"	602254					Standard	NM_001013694		Approved	HC/HCC, SRR1L	uc010gve.3	Q9UH36	OTTHUMG00000150885	ENST00000215917.7:c.404G>C	22.37:g.26884148G>C	ENSP00000215917:p.Gly135Ala						p.G135A	NM_001013694.2	NP_001013716.2	Q9UH36	SRR1L_HUMAN			3	418	+			135					Q6NXP8	Missense_Mutation	SNP	ENST00000215917.7	37	c.404G>C	CCDS42995.1	.	.	.	.	.	.	.	.	.	.	G	9.313	1.056099	0.19907	.	.	ENSG00000100104	ENST00000215917	T	0.47869	0.83	4.81	2.74	0.32292	.	1.094480	0.06964	N	0.816953	T	0.41003	0.1140	L	0.53249	1.67	0.09310	N	1	B;B	0.31581	0.329;0.329	B;B	0.28849	0.095;0.095	T	0.27739	-1.0065	10	0.22706	T	0.39	-2.6964	7.005	0.24831	0.202:0.0:0.798:0.0	.	135;128	Q9UH36;B4DF37	SRR1L_HUMAN;.	A	135	ENSP00000215917:G135A	ENSP00000215917:G135A	G	+	2	0	SRRD	25214148	0.001000	0.12720	0.000000	0.03702	0.030000	0.12068	0.787000	0.26858	0.633000	0.30452	0.655000	0.94253	GGA		0.468	SRRD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320423.2	NM_001013694		52	210	0	0	0	0.870114	0	52	210					C	26884148	G	C	26884148	3	2	28	1	0	0	0	0	1	0	0	0	15166	1174	41	5	414	5	SRRD	22	26884148	Missense_Mutation	SNP	G	TCGA-CH-5762-01A-11D-1576-08		26884148	24420418	109	1434											
LIMK2	3985	broad.mit.edu	37	chr22	31667167	31667167	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccaccgggatctgaactcgCacaactgcctcatcaagttg	10	9	8	14	2	3	1	2	1	1	0	5	2	4	2	3	1	3	2	3	1	3	1			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr22:31667167C>A	ENST00000331728.4	+	12	1477	c.1363C>A	c.(1363-1365)Cac>Aac	p.H455N	LIMK2_ENST00000444929.2_Missense_Mutation_p.H209N|LIMK2_ENST00000406516.1_Missense_Mutation_p.H377N|LIMK2_ENST00000340552.4_Missense_Mutation_p.H434N|LIMK2_ENST00000333611.4_Missense_Mutation_p.H434N	NM_005569.3	NP_005560.1	P53671	LIMK2_HUMAN	LIM domain kinase 2	455	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				phosphorylation (GO:0016310)|spermatogenesis (GO:0007283)	cis-Golgi network (GO:0005801)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|zinc ion binding (GO:0008270)	p.H455N(2)		endometrium(7)|kidney(3)|large_intestine(6)|lung(6)|ovary(2)|prostate(4)|skin(1)	29						TCTGAACTCGCACAACTGCCT	0.542																																						ENST00000331728.4																			2	Substitution - Missense(2)	p.H455N(2)	prostate(2)	endometrium(7)|kidney(3)|large_intestine(6)|lung(6)|ovary(2)|prostate(4)|skin(1)	29						c.(1363-1365)Cac>Aac		LIM domain kinase 2							186	141	157					22																	31667167		2203	4300	6503	SO:0001583	missense	3985					mitochondrion|nucleus	ATP binding|protein serine/threonine kinase activity|zinc ion binding	g.chr22:31667167C>A	D45906	CCDS13891.1, CCDS13892.1, CCDS33637.1	22q12	2005-01-21			ENSG00000182541	ENSG00000182541			6614	protein-coding gene	gene with protein product		601988				8537403, 10591208	Standard	NM_005569		Approved		uc003akh.3	P53671	OTTHUMG00000151251	ENST00000331728.4:c.1363C>A	22.37:g.31667167C>A	ENSP00000332687:p.His455Asn					LIMK2_ENST00000406516.1_Missense_Mutation_p.H377N|LIMK2_ENST00000340552.4_Missense_Mutation_p.H434N|LIMK2_ENST00000333611.4_Missense_Mutation_p.H434N|LIMK2_ENST00000444929.2_Missense_Mutation_p.H209N	p.H455N	NM_005569.3	NP_005560.1	P53671	LIMK2_HUMAN			12	1477	+			455			Protein kinase.		A8K6H5|Q7KZ80|Q7L3H5|Q96E10|Q99464|Q9UFU0	Missense_Mutation	SNP	ENST00000331728.4	37	c.1363C>A	CCDS13891.1	.	.	.	.	.	.	.	.	.	.	.	15.57	2.871426	0.51695	.	.	ENSG00000182541	ENST00000406516;ENST00000444929;ENST00000331728;ENST00000436394;ENST00000333611;ENST00000340552	D;D;D;D;D	0.88664	-2.41;-1.59;-1.59;-1.59;-2.41	5.28	5.28	0.74379	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.050906	0.85682	D	0.000000	D	0.83468	0.5261	N	0.01576	-0.805	0.51012	D	0.999902	B;B;B;B;D	0.63880	0.026;0.1;0.016;0.033;0.993	B;B;B;B;P	0.58577	0.061;0.098;0.038;0.1;0.841	D	0.87391	0.2363	10	0.36615	T	0.2	-32.6636	17.9017	0.88906	0.0:1.0:0.0:0.0	.	487;434;209;455;377	F5GY29;Q7L3H5;E7EUC1;P53671;B5MC51	.;.;.;LIMK2_HUMAN;.	N	377;209;455;487;434;434	ENSP00000384602:H377N;ENSP00000409522:H209N;ENSP00000332687:H455N;ENSP00000330470:H434N;ENSP00000339916:H434N	ENSP00000332687:H455N	H	+	1	0	LIMK2	29997167	1.000000	0.71417	0.984000	0.44739	0.889000	0.51656	5.558000	0.67319	2.468000	0.83385	0.460000	0.39030	CAC		0.542	LIMK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321911.1	NM_016733		29	158	1	0	2.46105e-21	0.750413	2.90184e-21	29	158					A	31667167	C	A	31667167	3	1	28	1	0	0	0	0	1	0	0	0	8802	710	25	5	1466	5	LIMK2	22	31667167	Missense_Mutation	SNP	C	TCGA-CH-5762-01A-11D-1576-08	4783019	31667167	19637399	110	1435											
NLGN4X	57502	broad.mit.edu	37	chrX	5821237	5821237	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atggggatgccgaagacataGgggacctcatcaccatgggc	11	6	14	10	1	2	1	2	0	0	1	2	4	2	3	3	5	1	0	3	5	2	1	rs146227486		TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chrX:5821237G>C	ENST00000381095.3	-	5	2109	c.1482C>G	c.(1480-1482)ccC>ccG	p.P494P	NLGN4X_ENST00000381092.1_Silent_p.P494P|NLGN4X_ENST00000275857.6_Silent_p.P494P|NLGN4X_ENST00000381093.2_Silent_p.P514P|NLGN4X_ENST00000538097.1_Silent_p.P494P	NM_001282145.1|NM_001282146.1|NM_181332.1	NP_001269074.1|NP_001269075.1|NP_851849.1	Q8N0W4	NLGNX_HUMAN	neuroligin 4, X-linked	494					adult behavior (GO:0030534)|brainstem development (GO:0003360)|cell-cell junction organization (GO:0045216)|cerebellum development (GO:0021549)|learning (GO:0007612)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|neuron cell-cell adhesion (GO:0007158)|neuron differentiation (GO:0030182)|organ growth (GO:0035265)|presynaptic membrane assembly (GO:0097105)|social behavior (GO:0035176)|synapse organization (GO:0050808)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|excitatory synapse (GO:0060076)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|chloride ion binding (GO:0031404)|neurexin family protein binding (GO:0042043)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)	p.P494P(1)		breast(1)|cervix(2)|endometrium(4)|large_intestine(21)|lung(39)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	81						CGAAGACATAGGGGACCTCAT	0.552																																						ENST00000381095.3																			1	Substitution - coding silent(1)	p.P494P(1)	prostate(1)	breast(1)|cervix(2)|endometrium(4)|large_intestine(21)|lung(39)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	81						c.(1480-1482)ccC>ccG		neuroligin 4, X-linked		G	,	0,3835		0,0,1632,571	97	80	86		1482,1482	2.9	0.6	X	dbSNP_134	86	1,6727		0,1,2427,1872	no	coding-synonymous,coding-synonymous	NLGN4X	NM_020742.2,NM_181332.1	,	0,1,4059,2443	CC,CG,GG,G		0.0149,0.0,0.0095	,	494/817,494/817	5821237	1,10562	2203	4300	6503	SO:0001819	synonymous_variant	57502				brainstem development|cell adhesion|cell-cell junction organization|cerebellum development|male courtship behavior|positive regulation of organ growth|regulation of excitatory postsynaptic membrane potential|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior	cell surface|dendrite|integral to plasma membrane|synapse	chloride ion binding|neurexin binding|protein homodimerization activity|receptor activity	g.chrX:5821237G>C	AB033086	CCDS14126.1	Xp22.33	2008-02-05	2004-05-21	2004-05-26	ENSG00000146938	ENSG00000146938			14287	protein-coding gene	gene with protein product		300427	"neuroligin 4"	NLGN4		10574462	Standard	XM_005274564		Approved	KIAA1260, NLGN, HLNX	uc004crr.3	Q8N0W4	OTTHUMG00000021093	ENST00000381095.3:c.1482C>G	X.37:g.5821237G>C						NLGN4X_ENST00000381092.1_Silent_p.P494P|NLGN4X_ENST00000275857.6_Silent_p.P494P|NLGN4X_ENST00000538097.1_Silent_p.P494P|NLGN4X_ENST00000381093.2_Silent_p.P514P	p.P494P	NM_181332.1	NP_851849.1	Q8N0W4	NLGNX_HUMAN			5	2109	-			494					Q6UX10|Q9ULG0	Silent	SNP	ENST00000381095.3	37	c.1482C>G	CCDS14126.1																																																																																				0.552	NLGN4X-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000055673.1	NM_020742		11	72	0	0	0	0.361761	0	11	72					C	5821237	G	C	5821237	2	2	28	1	0	0	0	0	0	0	0	1	10464	987	35	5		5	NLGN4X	23	5821237	Silent	SNP	G	TCGA-CH-5762-01A-11D-1576-08		5821237	149449323	111	1436											
DMD	1756	broad.mit.edu	37	chrX	32380926	32380926	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttccagtcttaattctgtgTgaaatggctgcaaatcgatg	10	15	9	7	1	2	1	0	1	2	0	4	2	3	1	1	1	1	2	1	1	3	3			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chrX:32380926T>C	ENST00000357033.4	-	37	5510	c.5304A>G	c.(5302-5304)tcA>tcG	p.S1768S	DMD_ENST00000378677.2_Silent_p.S1764S	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	1768	Interaction with SYNM. {ECO:0000250}.				cardiac muscle cell action potential (GO:0086001)|cardiac muscle contraction (GO:0060048)|cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|extracellular matrix organization (GO:0030198)|motile cilium assembly (GO:0044458)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|peptide biosynthetic process (GO:0043043)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of heart rate (GO:0002027)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of skeletal muscle contraction (GO:0014819)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|regulation of voltage-gated calcium channel activity (GO:1901385)	cell junction (GO:0030054)|cell surface (GO:0009986)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dystrophin-associated glycoprotein complex (GO:0016010)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|syntrophin complex (GO:0016013)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|dystroglycan binding (GO:0002162)|myosin binding (GO:0017022)|nitric-oxide synthase binding (GO:0050998)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				TAATTCTGTGTGAAATGGCTG	0.478																																						ENST00000357033.4																			0				NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77						c.(5302-5304)tcA>tcG		dystrophin							196	152	167					X																	32380926		2202	4300	6502	SO:0001819	synonymous_variant	1756				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding	g.chrX:32380926T>C	AF047505	CCDS14231.1, CCDS14232.1, CCDS14233.1, CCDS14234.1, CCDS48091.1, CCDS55394.1, CCDS55395.1, CCDS75965.1	Xp21.2	2014-09-17	2008-08-01		ENSG00000198947	ENSG00000198947			2928	protein-coding gene	gene with protein product	"muscular dystrophy, Duchenne and Becker types"	300377	"dystrophin (muscular dystrophy, Duchenne and Becker types), includes DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272", "mental retardation, X-linked 85"	MRX85		3282674, 3607877, 23900271	Standard	NM_004019		Approved	BMD, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272	uc004dda.1	P11532	OTTHUMG00000021336	ENST00000357033.4:c.5304A>G	X.37:g.32380926T>C						DMD_ENST00000378677.2_Silent_p.S1764S	p.S1768S	NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN			37	5510	-		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)	1768			Interaction with SYNM (By similarity).		E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Silent	SNP	ENST00000357033.4	37	c.5304A>G	CCDS14233.1																																																																																				0.478	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056182.2	NM_004006		5	150	0	0	0	0.217242	0	5	150					C	32380926	T	C	32380926	2	2	28	1	0	0	0	0	0	0	0	1	4580	1683	59	4		4	DMD	23	32380926	Silent	SNP	T	TCGA-CH-5762-01A-11D-1576-08	26559689	32380926	122889634	112	1437											
GAB3	139716	broad.mit.edu	37	chrX	153940643	153940643	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tggcttggcttaggggggcgGggaggtggagtgttggacat	5	10	22	4	1	0	0	0	0	0	0	0	3	0	3	0	10	0	3	0	10	1	3			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chrX:153940643G>C	ENST00000369575.3	-	4	958	c.927C>G	c.(925-927)ccC>ccG	p.P309P	GAB3_ENST00000424127.2_Silent_p.P310P|GAB3_ENST00000496390.1_Intron	NM_001081573.1|NM_080612.2	NP_001075042.1|NP_542179.1	Q8WWW8	GAB3_HUMAN	GRB2-associated binding protein 3	309					macrophage differentiation (GO:0030225)			p.P309P(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(1)	25	all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					TAGGGGGGCGGGGAGGTGGAG	0.488																																						ENST00000369575.3																			1	Substitution - coding silent(1)	p.P309P(1)	prostate(1)	NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(1)	25						c.(925-927)ccC>ccG		GRB2-associated binding protein 3							121	113	116					X																	153940643		2203	4300	6503	SO:0001819	synonymous_variant	139716							g.chrX:153940643G>C	AY057989	CCDS14760.1, CCDS48198.1, CCDS65357.1	Xq28	2013-01-10			ENSG00000160219	ENSG00000160219		"Pleckstrin homology (PH) domain containing"	17515	protein-coding gene	gene with protein product	"DOS/Gab family member 3", "Gab3 scaffolding protein"	300482				11739737	Standard	XM_005274648		Approved		uc004fmk.1	Q8WWW8	OTTHUMG00000024245	ENST00000369575.3:c.927C>G	X.37:g.153940643G>C						GAB3_ENST00000496390.1_Intron|GAB3_ENST00000424127.2_Silent_p.P310P	p.P309P	NM_001081573.1|NM_080612.2	NP_001075042.1|NP_542179.1	Q8WWW8	GAB3_HUMAN			4	958	-	all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)		309					A6NHF8|E9PB44	Silent	SNP	ENST00000369575.3	37	c.927C>G	CCDS14760.1																																																																																				0.488	GAB3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000061192.2	NM_001081573		17	164	0	0	0	0.520397	0	17	164					C	153940643	G	C	153940643	2	2	28	1	0	0	0	0	0	0	0	1	6150	1219	43	5		5	GAB3	23	153940643	Silent	SNP	G	TCGA-CH-5762-01A-11D-1576-08	121559717	153940643	1329917	113	1438											
UBR4	23352	broad.mit.edu	37	chr1	19493625	19493625	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agggcccaagatgcgttccaGggagttgctactgatctcgg	8	9	14	10	2	1	2	0	1	1	1	3	3	2	3	2	3	3	3	2	3	2	3			TCGA-CH-5763-01A-11D-1576-08	TCGA-CH-5763-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	581be6cf-9778-49c3-9c77-1316eaa78929	b3c65fbf-e781-4a0c-b76d-8a6c4535ccef	g.chr1:19493625G>C	ENST00000375254.3	-	29	4027	c.4000C>G	c.(4000-4002)Ctg>Gtg	p.L1334V	UBR4_ENST00000375217.2_Missense_Mutation_p.L1334V|UBR4_ENST00000375226.2_Missense_Mutation_p.L1334V|UBR4_ENST00000375267.2_Missense_Mutation_p.L1334V	NM_020765.2	NP_065816.2	Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	1334					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		ATGCGTTCCAGGGAGTTGCTA	0.483																																						ENST00000375267.2																			0				breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171						c.(4000-4002)Ctg>Gtg		ubiquitin protein ligase E3 component n-recognin 4							158	144	148					1																	19493625		2203	4300	6503	SO:0001583	missense	23352				interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr1:19493625G>C	AF348492	CCDS189.1	1p36.13	2008-06-23	2007-06-19	2007-06-19	ENSG00000127481	ENSG00000127481		"Ubiquitin protein ligase E3 component n-recognins"	30313	protein-coding gene	gene with protein product		609890	"zinc finger, UBR1 type 1"	ZUBR1		14702039, 10718198, 16055722	Standard	XM_005245802		Approved	KIAA1307, KIAA0462, RBAF600	uc001bbi.3	Q5T4S7	OTTHUMG00000002498	ENST00000375254.3:c.4000C>G	1.37:g.19493625G>C	ENSP00000364403:p.Leu1334Val					UBR4_ENST00000375254.3_Missense_Mutation_p.L1334V|UBR4_ENST00000375217.2_Missense_Mutation_p.L1334V|UBR4_ENST00000375226.2_Missense_Mutation_p.L1334V	p.L1334V			Q5T4S7	UBR4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)	29	4003	-		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)	1334					A8MPT2|A8MQ33|A8MQB1|O60646|O75050|Q4QRK5|Q5T4S8|Q5T4S9|Q5TBN8|Q5TBP2|Q6DKH8|Q6P4A4|Q7L8P7|Q8IXJ4|Q8TDN5|Q8WV67|Q9HA46|Q9P2N9|Q9UG82	Missense_Mutation	SNP	ENST00000375254.3	37	c.4000C>G	CCDS189.1	.	.	.	.	.	.	.	.	.	.	G	23.5	4.419366	0.83559	.	.	ENSG00000127481	ENST00000375254;ENST00000375267;ENST00000375217;ENST00000375226;ENST00000417040;ENST00000419533	T;T;T;T;T	0.78003	-1.14;-1.14;-1.14;-1.14;-0.97	5.75	3.89	0.44902	.	0.000000	0.64402	D	0.000003	D	0.82467	0.5043	L	0.54323	1.7	0.80722	D	1	P	0.52842	0.956	P	0.62184	0.899	T	0.80417	-0.1391	10	0.39692	T	0.17	.	12.012	0.53293	0.141:0.0:0.859:0.0	.	1334	Q5T4S7	UBR4_HUMAN	V	1334;1334;1334;1334;44;550	ENSP00000364403:L1334V;ENSP00000364416:L1334V;ENSP00000364365:L1334V;ENSP00000364374:L1334V;ENSP00000404897:L44V	ENSP00000364365:L1334V	L	-	1	2	UBR4	19366212	1.000000	0.71417	0.998000	0.56505	0.992000	0.81027	3.675000	0.54605	0.789000	0.33779	0.585000	0.79938	CTG		0.483	UBR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007085.1	NM_020765		6	192	0	0	0	1	0	6	192					C	19493625	G	C	19493625	3	2	29	1	0	0	0	0	1	0	0	0	16901	991	35	5	11863	5	UBR4	1	19493625	Missense_Mutation	SNP	G	TCGA-CH-5763-01A-11D-1576-08		19493625	229756996	1	1439											
RGS7	6000	broad.mit.edu	37	chr1	240977013	240977013	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgtattctaaatactgttcCgtgtaacttagtagactaag	12	15	7	7	2	1	1	0	0	1	1	3	1	2	1	1	0	2	4	1	0	8	9			TCGA-CH-5763-01A-11D-1576-08	TCGA-CH-5763-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	581be6cf-9778-49c3-9c77-1316eaa78929	b3c65fbf-e781-4a0c-b76d-8a6c4535ccef	g.chr1:240977013C>A	ENST00000407727.1	-	12	860	c.861G>T	c.(859-861)acG>acT	p.T287T	RGS7_ENST00000401882.1_Silent_p.T234T|RGS7_ENST00000366564.1_Silent_p.T287T|RGS7_ENST00000366563.1_Silent_p.T287T|RGS7_ENST00000331110.7_Silent_p.T261T|RGS7_ENST00000366565.1_Silent_p.T287T|RGS7_ENST00000348120.2_Silent_p.T234T|RGS7_ENST00000446183.2_Silent_p.T203T|RGS7_ENST00000366562.4_Silent_p.T287T			P49802	RGS7_HUMAN	regulator of G-protein signaling 7	287	G protein gamma.				G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|positive regulation of GTPase activity (GO:0043547)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite terminus (GO:0044292)|heterotrimeric G-protein complex (GO:0005834)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	G-protein beta-subunit binding (GO:0031681)|GTPase activator activity (GO:0005096)|signal transducer activity (GO:0004871)	p.T287T(2)		breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(51)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76		all_cancers(173;0.0131)	OV - Ovarian serous cystadenocarcinoma(106;0.027)			AATACTGTTCCGTGTAACTTA	0.433																																						ENST00000366565.1																			2	Substitution - coding silent(2)	p.T287T(2)	prostate(2)	breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(51)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76						c.(859-861)acG>acT		regulator of G-protein signaling 7							101	97	98					1																	240977013		2203	4300	6503	SO:0001819	synonymous_variant	6000				G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|protein binding|signal transducer activity	g.chr1:240977013C>A	BC022009	CCDS31071.1, CCDS60457.1, CCDS60458.1, CCDS60459.1	1q43	2008-02-05	2007-08-14		ENSG00000182901	ENSG00000182901		"Regulators of G-protein signaling"	10003	protein-coding gene	gene with protein product		602517	"regulator of G-protein signalling 7"			8548815	Standard	XM_005273218		Approved		uc001hyv.2	P49802	OTTHUMG00000040107	ENST00000407727.1:c.861G>T	1.37:g.240977013C>A						RGS7_ENST00000366563.1_Silent_p.T287T|RGS7_ENST00000348120.2_Silent_p.T234T|RGS7_ENST00000366564.1_Silent_p.T287T|RGS7_ENST00000366562.4_Silent_p.T287T|RGS7_ENST00000407727.1_Silent_p.T287T|RGS7_ENST00000446183.2_Silent_p.T203T|RGS7_ENST00000401882.1_Silent_p.T234T|RGS7_ENST00000331110.7_Silent_p.T261T	p.T287T	NM_002924.4	NP_002915.3	P49802	RGS7_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.027)		13	1242	-		all_cancers(173;0.0131)	287			G protein gamma.		Q5T3H4|Q8TD66|Q8TD67|Q8WW09|Q9UNU7|Q9Y6B9	Silent	SNP	ENST00000407727.1	37	c.861G>T																																																																																					0.433	RGS7-204	KNOWN	basic	protein_coding	protein_coding		NM_002924		8	89	1	0	0.00448238	1	0.00481856	8	89					A	240977013	C	A	240977013	2	1	29	1	0	0	0	0	0	0	0	1	13310	639	23	5		5	RGS7	1	240977013	Silent	SNP	C	TCGA-CH-5763-01A-11D-1576-08	221483388	240977013	8273608	2	1440											
NCKAP1	10787	broad.mit.edu	37	chr2	183846059	183846059	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acaggtccgtatttcctcacAtgtgctctaagttcttccat	8	15	6	12	1	3	0	1	0	2	0	6	0	6	0	3	1	1	3	3	1	2	5	rs370783845		TCGA-CH-5763-01A-11D-1576-08	TCGA-CH-5763-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	581be6cf-9778-49c3-9c77-1316eaa78929	b3c65fbf-e781-4a0c-b76d-8a6c4535ccef	g.chr2:183846059A>G	ENST00000361354.4	-	13	1626	c.1254T>C	c.(1252-1254)caT>caC	p.H418H	NCKAP1_ENST00000360982.2_Silent_p.H424H	NM_013436.3	NP_038464.1	Q9Y2A7	NCKP1_HUMAN	NCK-associated protein 1	418					apical protein localization (GO:0045176)|apoptotic process (GO:0006915)|basal protein localization (GO:0045175)|central nervous system development (GO:0007417)|embryonic body morphogenesis (GO:0010172)|embryonic foregut morphogenesis (GO:0048617)|embryonic heart tube development (GO:0035050)|endoderm development (GO:0007492)|establishment or maintenance of actin cytoskeleton polarity (GO:0030950)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|lamellipodium assembly (GO:0030032)|mesodermal cell migration (GO:0008078)|neural tube closure (GO:0001843)|notochord morphogenesis (GO:0048570)|paraxial mesoderm morphogenesis (GO:0048340)|positive regulation of Arp2/3 complex-mediated actin nucleation (GO:2000601)|positive regulation of lamellipodium assembly (GO:0010592)|protein stabilization (GO:0050821)|Rac protein signal transduction (GO:0016601)|regulation of protein localization (GO:0032880)|somitogenesis (GO:0001756)|zygotic determination of anterior/posterior axis, embryo (GO:0007354)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|SCAR complex (GO:0031209)	protein complex binding (GO:0032403)	p.H424H(1)		breast(3)|cervix(2)|endometrium(3)|kidney(4)|large_intestine(11)|lung(16)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	45			OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)			ATTTCCTCACATGTGCTCTAA	0.328																																						ENST00000360982.2																			1	Substitution - coding silent(1)	p.H424H(1)	prostate(1)	breast(3)|cervix(2)|endometrium(3)|kidney(4)|large_intestine(11)|lung(16)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	45						c.(1270-1272)caT>caC		NCK-associated protein 1		A	,	0,4406		0,0,2203	148	126	134		1254,1272	3.5	1	2		134	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	NCKAP1	NM_013436.3,NM_205842.1	,	0,1,6502	GG,GA,AA		0.0116,0.0,0.0077	,	418/1129,424/1135	183846059	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	10787				apoptosis|central nervous system development	integral to membrane|lamellipodium membrane	protein binding	g.chr2:183846059A>G	AB014509	CCDS2287.1, CCDS2288.1	2q32	2009-08-14			ENSG00000061676	ENSG00000061676			7666	protein-coding gene	gene with protein product		604891				10673335, 12181570, 9344857	Standard	NM_013436		Approved	Nap1, HEM2, NAP125	uc002upb.4	Q9Y2A7	OTTHUMG00000132623	ENST00000361354.4:c.1254T>C	2.37:g.183846059A>G						NCKAP1_ENST00000361354.3_Silent_p.H418H	p.H424H	NM_205842.1	NP_995314.1	Q9Y2A7	NCKP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)		14	2030	-			418					O60329|Q53QN5|Q53S94|Q53Y35	Silent	SNP	ENST00000361354.4	37	c.1272T>C	CCDS2287.1																																																																																				0.328	NCKAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255867.2	NM_205842		7	109	0	0	0	1	0	7	109					G	183846059	A	G	183846059	2	3	29	1	0	0	0	0	0	0	0	1	10221	214	8	4		4	NCKAP1	2	183846059	Silent	SNP	A	TCGA-CH-5763-01A-11D-1576-08		183846059	59353314	3	1441											
CCDC140	151278	broad.mit.edu	37	chr2	223168894	223168894	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctgcagagaggcgttttgaaGagtgctgcgcgcacctgcct	7	9	14	11	3	0	3	0	1	0	2	0	4	0	3	2	1	4	4	2	1	1	2			TCGA-CH-5763-01A-11D-1576-08	TCGA-CH-5763-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	581be6cf-9778-49c3-9c77-1316eaa78929	b3c65fbf-e781-4a0c-b76d-8a6c4535ccef	g.chr2:223168894G>C	ENST00000295226.1	+	2	657	c.273G>C	c.(271-273)aaG>aaC	p.K91N		NM_153038.1	NP_694583.1	Q96MF4	CC140_HUMAN	coiled-coil domain containing 140	91								p.K91N(1)		endometrium(4)|large_intestine(1)|prostate(1)	6		Renal(207;0.0376)		Epithelial(121;4.03e-10)|all cancers(144;1.8e-07)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GCGTTTTGAAGAGTGCTGCGC	0.662																																						ENST00000295226.1																			1	Substitution - Missense(1)	p.K91N(1)	prostate(1)	endometrium(4)|large_intestine(1)|prostate(1)	6						c.(271-273)aaG>aaC		coiled-coil domain containing 140							27	32	31					2																	223168894		2203	4300	6503	SO:0001583	missense	151278							g.chr2:223168894G>C	AK057009	CCDS2452.1	2q36.1	2008-02-05			ENSG00000163081	ENSG00000163081			26514	protein-coding gene	gene with protein product							Standard	NM_153038		Approved	FLJ32447	uc002vnb.1	Q96MF4	OTTHUMG00000133154	ENST00000295226.1:c.273G>C	2.37:g.223168894G>C	ENSP00000295226:p.Lys91Asn						p.K91N	NM_153038.1	NP_694583.1	Q96MF4	CC140_HUMAN		Epithelial(121;4.03e-10)|all cancers(144;1.8e-07)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	2	657	+		Renal(207;0.0376)	91						Missense_Mutation	SNP	ENST00000295226.1	37	c.273G>C	CCDS2452.1	.	.	.	.	.	.	.	.	.	.	G	9.387	1.074391	0.20227	.	.	ENSG00000163081	ENST00000295226	.	.	.	2.64	-0.792	0.10925	.	.	.	.	.	T	0.21550	0.0519	N	0.08118	0	0.09310	N	1	P	0.39809	0.689	P	0.44477	0.451	T	0.20739	-1.0266	8	0.87932	D	0	.	6.0513	0.19787	0.1481:0.59:0.2619:0.0	.	91	Q96MF4	CC140_HUMAN	N	91	.	ENSP00000295226:K91N	K	+	3	2	CCDC140	222877138	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	0.117000	0.15583	-0.200000	0.10300	0.591000	0.81541	AAG		0.662	CCDC140-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256854.1	NM_153038		3	40	0	0	0	1	0	3	40					C	223168894	G	C	223168894	3	2	29	1	0	0	0	0	1	0	0	0	2774	933	33	5	275	5	CCDC140	2	223168894	Missense_Mutation	SNP	G	TCGA-CH-5763-01A-11D-1576-08	39322835	223168894	20030479	4	1442											
FOXP1	27086	broad.mit.edu	37	chr3	71027051	71027051	+	Frame_Shift_Del	DEL	T	T	-																															caccgtgtgcatgctggtggTtgtgatgacagaggggcctt																										TCGA-CH-5763-01A-11D-1576-08	TCGA-CH-5763-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	581be6cf-9778-49c3-9c77-1316eaa78929	b3c65fbf-e781-4a0c-b76d-8a6c4535ccef	g.chr3:71027051delT	ENST00000318789.4	-	15	1801	c.1276delA	c.(1276-1278)accfs	p.T427fs	FOXP1_ENST00000498215.1_Frame_Shift_Del_p.T427fs|FOXP1_ENST00000491238.1_Frame_Shift_Del_p.T429fs|FOXP1_ENST00000493089.1_Frame_Shift_Del_p.T427fs|FOXP1_ENST00000484350.1_Frame_Shift_Del_p.T351fs|FOXP1_ENST00000468577.1_Frame_Shift_Del_p.T427fs|FOXP1_ENST00000475937.1_Frame_Shift_Del_p.T427fs	NM_001244810.1|NM_001244813.1|NM_032682.5	NP_001231739.1|NP_001231742.1|NP_116071.2	Q9H334	FOXP1_HUMAN	forkhead box P1	427					negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	31		Lung NSC(201;4.62e-05)|Prostate(10;0.0181)|Hepatocellular(537;0.186)|Myeloproliferative disorder(1037;0.209)		BRCA - Breast invasive adenocarcinoma(55;1.17e-05)|Epithelial(33;1.39e-05)|LUSC - Lung squamous cell carcinoma(21;2.35e-05)|Lung(16;4.26e-05)		ATGCTGGTGGTTGTGATGACA	0.577			T	PAX5	ALL																																	ENST00000318789.4				Dom	yes		3	3p14.1	27086	T	forkhead box P1			L	PAX5		ALL		0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	31						c.(1276-1278)ccfs		forkhead box P1							163	153	156					3																	71027051		2203	4300	6503	SO:0001589	frameshift_variant	27086				cardiac muscle cell differentiation|embryo development|immunoglobulin V(D)J recombination|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of immunoglobulin production|positive regulation of mesenchymal cell proliferation|pre-B cell differentiation|regulation of sequence-specific DNA binding transcription factor activity|skeletal muscle tissue development|smooth muscle tissue development	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding	g.chr3:71027051delT	AF146696	CCDS2914.1, CCDS33785.1, CCDS58837.1, CCDS58838.1, CCDS58839.1, CCDS74963.1, CCDS74964.1	3p14.1	2008-07-18			ENSG00000114861	ENSG00000114861		"Forkhead boxes"	3823	protein-coding gene	gene with protein product	"fork head-related protein like B", "glutamine-rich factor 1", "PAX5/FOXP1 fusion protein"	605515				8265594, 11751404	Standard	NM_032682		Approved	QRF1, 12CC4, HSPC215, hFKH1B	uc003doj.3	Q9H334	OTTHUMG00000158803	ENST00000318789.4:c.1276delA	3.37:g.71027051delT	ENSP00000318902:p.Thr427fs					FOXP1_ENST00000484350.1_Frame_Shift_Del_p.T351fs|FOXP1_ENST00000498215.1_Frame_Shift_Del_p.T427fs|FOXP1_ENST00000493089.1_Frame_Shift_Del_p.T427fs|FOXP1_ENST00000491238.1_Frame_Shift_Del_p.T429fs|FOXP1_ENST00000475937.1_Frame_Shift_Del_p.T427fs|FOXP1_ENST00000468577.1_Frame_Shift_Del_p.T427fs	p.T427fs	NM_001244810.1|NM_001244813.1|NM_032682.5	NP_001231739.1|NP_001231742.1|NP_116071.2	Q9H334	FOXP1_HUMAN		BRCA - Breast invasive adenocarcinoma(55;1.17e-05)|Epithelial(33;1.39e-05)|LUSC - Lung squamous cell carcinoma(21;2.35e-05)|Lung(16;4.26e-05)	15	1801	-		Lung NSC(201;4.62e-05)|Prostate(10;0.0181)|Hepatocellular(537;0.186)|Myeloproliferative disorder(1037;0.209)	427					A3QVP8|B3KV70|G5E9V8|Q8NAN6|Q9BSG9|Q9H332|Q9H333|Q9P0R1	Frame_Shift_Del	DEL	ENST00000318789.4	37	c.1276delA	CCDS2914.1																																																																																				0.577	FOXP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000352250.1	NM_032682		11	265						11	265	---	---	---	---	-	71027051	T	-	71027051	7	5	29	1	0	1	0	1	0	0	0	0	6026	1725	60	0	785	0	FOXP1	3	71027051	Frame_Shift_Del	DEL	T	TCGA-CH-5763-01A-11D-1576-08		71027051	126995379	5	1443											
BCL6	604	broad.mit.edu	37	chr3	187447376	187447376	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctcagccacactgtagtgcaTatcacttcgtgcctcttctg	7	13	7	14	1	4	0	2	0	2	0	5	0	4	0	2	0	3	2	2	0	2	4	rs139857005		TCGA-CH-5763-01A-11D-1576-08	TCGA-CH-5763-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	581be6cf-9778-49c3-9c77-1316eaa78929	b3c65fbf-e781-4a0c-b76d-8a6c4535ccef	g.chr3:187447376T>C	ENST00000406870.2	-	5	1183	c.817A>G	c.(817-819)Atg>Gtg	p.M273V	BCL6_ENST00000450123.2_Missense_Mutation_p.M273V|RP11-211G3.3_ENST00000449623.1_Intron|RP11-211G3.3_ENST00000437407.1_Intron|BCL6_ENST00000232014.4_Missense_Mutation_p.M273V	NM_001706.4	NP_001697.2	P41182	BCL6_HUMAN	B-cell CLL/lymphoma 6	273					actin cytoskeleton organization (GO:0030036)|B cell differentiation (GO:0030183)|cell morphogenesis (GO:0000902)|cellular response to DNA damage stimulus (GO:0006974)|erythrocyte development (GO:0048821)|germinal center formation (GO:0002467)|inflammatory response (GO:0006954)|negative regulation of B cell apoptotic process (GO:0002903)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of isotype switching to IgE isotypes (GO:0048294)|negative regulation of mast cell cytokine production (GO:0032764)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of T-helper 2 cell differentiation (GO:0045629)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of type 2 immune response (GO:0002829)|positive regulation of apoptotic process (GO:0043065)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cellular component movement (GO:0051272)|protein import into nucleus, translocation (GO:0000060)|regulation of germinal center formation (GO:0002634)|regulation of immune response (GO:0050776)|regulation of inflammatory response (GO:0050727)|regulation of memory T cell differentiation (GO:0043380)|regulation of Rho GTPase activity (GO:0032319)|Rho protein signal transduction (GO:0007266)|spermatogenesis (GO:0007283)|type 2 immune response (GO:0042092)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|metal ion binding (GO:0046872)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.M273V(1)		central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(9)|lung(10)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	40	all_cancers(143;9.45e-12)|Ovarian(172;0.0418)		OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.0141)		CTGTAGTGCATATCACTTCGT	0.547			"T, Mis"	"IG loci, ZNFN1A1, LCP1, PIM1, TFRC, CIITA, NACA, HSPCB, HSPCA, HIST1H4I, IL21R,  POU2AF1, ARHH, EIF4A2, SFRS3"	"NHL, CLL"																																	ENST00000406870.2				Dom	yes		3	3q27	604	"T, Mis"	B-cell CLL/lymphoma 6			L	"IG loci, ZNFN1A1, LCP1, PIM1, TFRC, CIITA, NACA, HSPCB, HSPCA, HIST1H4I, IL21R,  POU2AF1, ARHH, EIF4A2, SFRS3"		"NHL, CLL"		1	Substitution - Missense(1)	p.M273V(1)	prostate(1)	central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(9)|lung(10)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	40						c.(817-819)Atg>Gtg		B-cell CLL/lymphoma 6		T	VAL/MET,VAL/MET,VAL/MET	0,4406		0,0,2203	85	88	87		817,817,817	4.3	1	3	dbSNP_134	87	2,8598	2.2+/-6.3	0,2,4298	no	missense,missense,missense	BCL6	NM_001130845.1,NM_001134738.1,NM_001706.4	21,21,21	0,2,6501	CC,CT,TT		0.0233,0.0,0.0154	benign,benign,benign	273/707,273/651,273/707	187447376	2,13004	2203	4300	6503	SO:0001583	missense	604				negative regulation of B cell apoptosis|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|protein import into nucleus, translocation|regulation of germinal center formation|response to DNA damage stimulus	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr3:187447376T>C		CCDS3289.1, CCDS46975.1	3q27	2013-01-09	2008-08-01		ENSG00000113916	ENSG00000113916		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	1001	protein-coding gene	gene with protein product		109565	"zinc finger protein 51"	ZNF51			Standard	NM_001130845		Approved	ZBTB27, LAZ3, BCL5, BCL6A	uc003frq.2	P41182	OTTHUMG00000156441	ENST00000406870.2:c.817A>G	3.37:g.187447376T>C	ENSP00000384371:p.Met273Val					BCL6_ENST00000450123.2_Missense_Mutation_p.M273V|RP11-211G3.3_ENST00000437407.1_Intron|BCL6_ENST00000232014.4_Missense_Mutation_p.M273V|RP11-211G3.3_ENST00000449623.1_Intron	p.M273V	NM_001706.4	NP_001697.2	P41182	BCL6_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.0141)	5	1183	-	all_cancers(143;9.45e-12)|Ovarian(172;0.0418)		273					A7E241|B8PSA7|D3DNV5	Missense_Mutation	SNP	ENST00000406870.2	37	c.817A>G	CCDS3289.1	.	.	.	.	.	.	.	.	.	.	T	3.581	-0.085526	0.07097	0.0	2.33E-4	ENSG00000113916	ENST00000406870;ENST00000232014;ENST00000450123	T;T;T	0.06933	3.24;3.24;3.25	5.46	4.29	0.51040	.	0.145792	0.85682	D	0.000000	T	0.07413	0.0187	L	0.43152	1.355	0.29928	N	0.822185	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.09684	-1.0663	10	0.22109	T	0.4	.	8.7114	0.34387	0.0:0.1496:0.0:0.8504	.	273;273	B8PSA7;P41182	.;BCL6_HUMAN	V	273	ENSP00000384371:M273V;ENSP00000232014:M273V;ENSP00000413122:M273V	ENSP00000232014:M273V	M	-	1	0	BCL6	188930070	0.999000	0.42202	0.998000	0.56505	0.957000	0.61999	0.753000	0.26376	2.203000	0.70933	0.459000	0.35465	ATG		0.547	BCL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344202.1	NM_138931		7	122	0	0	0	1	0	7	122					C	187447376	T	C	187447376	3	2	29	1	0	0	0	0	1	0	0	0	1376	1406	49	4	1327	4	BCL6	3	187447376	Missense_Mutation	SNP	T	TCGA-CH-5763-01A-11D-1576-08	116420325	187447376	10575054	6	1444											
TNIP3	79931	broad.mit.edu	37	chr4	122075727	122075727	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttattgaggcgttttatttcAcattcgtaatgttccttttc	7	21	6	7	2	1	1	1	1	0	0	4	1	2	1	1	1	0	3	1	1	3	10			TCGA-CH-5763-01A-11D-1576-08	TCGA-CH-5763-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	581be6cf-9778-49c3-9c77-1316eaa78929	b3c65fbf-e781-4a0c-b76d-8a6c4535ccef	g.chr4:122075727A>G	ENST00000509841.1	-	8	780	c.702T>C	c.(700-702)tgT>tgC	p.C234C	TNIP3_ENST00000057513.3_Silent_p.C157C|TNIP3_ENST00000507879.1_Silent_p.C227C|TNIP3_ENST00000454328.1_Silent_p.C157C	NM_001244764.1	NP_001231693.1			TNFAIP3 interacting protein 3									p.C157C(1)		NS(1)|endometrium(4)|large_intestine(4)|lung(9)|ovary(1)|prostate(3)|skin(2)	24						GTTTTATTTCACATTCGTAAT	0.348																																						ENST00000454328.1																			1	Substitution - coding silent(1)	p.C157C(1)	prostate(1)	NS(1)|endometrium(4)|large_intestine(4)|lung(9)|ovary(1)|prostate(3)|skin(2)	24						c.(469-471)tgT>tgC		TNFAIP3 interacting protein 3							194	178	184					4																	122075727		2203	4300	6503	SO:0001819	synonymous_variant	79931							g.chr4:122075727A>G	AJ320534	CCDS3718.1, CCDS58925.1, CCDS58926.1	4q27	2008-02-05			ENSG00000050730	ENSG00000050730			19315	protein-coding gene	gene with protein product		608019				11345586	Standard	NM_024873		Approved	LIND, FLJ21162, ABIN-3	uc021xrj.1	Q96KP6	OTTHUMG00000132969	ENST00000509841.1:c.702T>C	4.37:g.122075727A>G						TNIP3_ENST00000509841.1_Silent_p.C234C|TNIP3_ENST00000507879.1_Silent_p.C227C|TNIP3_ENST00000057513.3_Silent_p.C157C	p.C157C			Q96KP6	TNIP3_HUMAN			7	698	-			157						Silent	SNP	ENST00000509841.1	37	c.471T>C	CCDS58926.1																																																																																				0.348	TNIP3-003	PUTATIVE	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364000.4	NM_024873		7	260	0	0	0	1	0	7	260					G	122075727	A	G	122075727	2	3	29	1	0	0	0	0	0	0	0	1	16313	157	6	4		4	TNIP3	4	122075727	Silent	SNP	A	TCGA-CH-5763-01A-11D-1576-08		122075727	69078549	7	1445											
TLL1	7092	broad.mit.edu	37	chr4	166981195	166981195	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tctagctgcttgtggtggacTtcttaccaaacttaacggca	9	13	9	10	1	2	0	0	0	2	0	2	1	2	1	1	3	5	3	1	3	4	5			TCGA-CH-5763-01A-11D-1576-08	TCGA-CH-5763-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	581be6cf-9778-49c3-9c77-1316eaa78929	b3c65fbf-e781-4a0c-b76d-8a6c4535ccef	g.chr4:166981195T>C	ENST00000061240.2	+	15	2509	c.1862T>C	c.(1861-1863)cTt>cCt	p.L621P	TLL1_ENST00000507499.1_Missense_Mutation_p.L644P	NM_012464.4	NP_036596.3	O43897	TLL1_HUMAN	tolloid-like 1	621	CUB 3. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cell differentiation (GO:0030154)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)		GBM - Glioblastoma multiforme(119;0.103)		TGTGGTGGACTTCTTACCAAA	0.458																																						ENST00000061240.2																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	77						c.(1861-1863)cTt>cCt		tolloid-like 1							70	69	69					4																	166981195		2203	4300	6503	SO:0001583	missense	7092				cell differentiation|proteolysis|skeletal system development	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding	g.chr4:166981195T>C	AF282732	CCDS3811.1, CCDS56342.1	4q32-q33	2008-07-29			ENSG00000038295	ENSG00000038295			11843	protein-coding gene	gene with protein product		606742				10516436	Standard	NM_012464		Approved		uc003irh.2	O43897	OTTHUMG00000161112	ENST00000061240.2:c.1862T>C	4.37:g.166981195T>C	ENSP00000061240:p.Leu621Pro					TLL1_ENST00000507499.1_Missense_Mutation_p.L644P	p.L621P	NM_012464.4	NP_036596.3	O43897	TLL1_HUMAN		GBM - Glioblastoma multiforme(119;0.103)	15	2509	+	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)	621			CUB 3.		B2RMU2|Q96AN3|Q9NQS4	Missense_Mutation	SNP	ENST00000061240.2	37	c.1862T>C	CCDS3811.1	.	.	.	.	.	.	.	.	.	.	T	15.29	2.790826	0.50102	.	.	ENSG00000038295	ENST00000061240;ENST00000507499	T;T	0.17528	2.27;2.27	6.17	6.17	0.99709	CUB (5);	0.000000	0.64402	U	0.000003	T	0.35508	0.0934	L	0.43598	1.365	0.80722	D	1	P;D	0.89917	0.922;1.0	P;D	0.97110	0.583;1.0	T	0.01397	-1.1365	10	0.39692	T	0.17	.	16.8222	0.85835	0.0:0.0:0.0:1.0	.	644;621	E9PD25;O43897	.;TLL1_HUMAN	P	621;644	ENSP00000061240:L621P;ENSP00000426082:L644P	ENSP00000061240:L621P	L	+	2	0	TLL1	167200645	1.000000	0.71417	0.970000	0.41538	0.019000	0.09904	7.921000	0.87530	2.371000	0.80710	0.533000	0.62120	CTT		0.458	TLL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363821.1			5	118	0	0	0	1	0	5	118					C	166981195	T	C	166981195	3	2	29	1	0	0	0	0	1	0	0	0	15942	1609	56	4	1920	4	TLL1	4	166981195	Missense_Mutation	SNP	T	TCGA-CH-5763-01A-11D-1576-08	44905468	166981195	24173081	8	1446											
SNCAIP	9627	broad.mit.edu	37	chr5	121739540	121739540	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	actgtgccgaagatgtgataCgcaaaacgaagacagatcag	16	6	11	8	3	1	4	1	1	0	3	1	6	1	4	1	0	3	1	1	0	5	1	rs199933356		TCGA-CH-5763-01A-11D-1576-08	TCGA-CH-5763-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	581be6cf-9778-49c3-9c77-1316eaa78929	b3c65fbf-e781-4a0c-b76d-8a6c4535ccef	g.chr5:121739540C>T	ENST00000261368.8	+	3	372	c.110C>T	c.(109-111)aCg>aTg	p.T37M	SNCAIP_ENST00000379533.2_Missense_Mutation_p.T84M|SNCAIP_ENST00000414317.2_Missense_Mutation_p.R28C|SNCAIP_ENST00000503116.2_Missense_Mutation_p.T84M|SNCAIP_ENST00000261367.7_Missense_Mutation_p.T84M|SNCAIP_ENST00000504884.2_Missense_Mutation_p.T37M|SNCAIP_ENST00000379536.2_Missense_Mutation_p.T37M|SNCAIP_ENST00000542191.1_5'UTR|SNCAIP_ENST00000379538.3_Missense_Mutation_p.R22C	NM_005460.2	NP_005451.2	Q9Y6H5	SNCAP_HUMAN	synuclein, alpha interacting protein	37					cell death (GO:0008219)|dopamine metabolic process (GO:0042417)|regulation of inclusion body assembly (GO:0090083)|regulation of neurotransmitter secretion (GO:0046928)	cytoplasm (GO:0005737)|neuronal cell body (GO:0043025)|presynaptic membrane (GO:0042734)|synaptic vesicle (GO:0008021)	identical protein binding (GO:0042802)|ubiquitin protein ligase binding (GO:0031625)	p.T84M(2)|p.T37M(1)		NS(3)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	39		all_cancers(142;0.00787)|Prostate(80;0.0327)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232)		AGATGTGATACGCAAAACGAA	0.463																																						ENST00000261367.7																			3	Substitution - Missense(3)	p.T84M(2)|p.T37M(1)	prostate(3)	NS(3)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	39						c.(250-252)aCg>aTg		synuclein, alpha interacting protein		C	MET/THR	0,4406		0,0,2203	222	196	205		110	5.6	0.1	5		205	1,8599	1.2+/-3.3	0,1,4299	no	missense	SNCAIP	NM_005460.2	81	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging	37/920	121739540	1,13005	2203	4300	6503	SO:0001583	missense	9627				cell death|dopamine metabolic process|regulation of inclusion body assembly|regulation of neurotransmitter secretion	cytoplasm|neuronal cell body|nucleolus|presynaptic membrane	ubiquitin protein ligase binding	g.chr5:121739540C>T	AF167306	CCDS4131.1, CCDS58964.1	5q23.2	2013-01-10	2008-07-31		ENSG00000064692	ENSG00000064692		"Ankyrin repeat domain containing"	11139	protein-coding gene	gene with protein product	"synphilin"	603779				10319874	Standard	NM_001242935		Approved	SYPH1	uc003ksw.1	Q9Y6H5	OTTHUMG00000128915	ENST00000261368.8:c.110C>T	5.37:g.121739540C>T	ENSP00000261368:p.Thr37Met					SNCAIP_ENST00000503116.2_Missense_Mutation_p.T84M|SNCAIP_ENST00000379533.2_Missense_Mutation_p.T84M|SNCAIP_ENST00000504884.2_Missense_Mutation_p.T37M|SNCAIP_ENST00000261368.8_Missense_Mutation_p.T37M|SNCAIP_ENST00000379538.3_Missense_Mutation_p.R22C|SNCAIP_ENST00000379536.2_Missense_Mutation_p.T37M|SNCAIP_ENST00000414317.2_Missense_Mutation_p.R28C|SNCAIP_ENST00000542191.1_5'UTR	p.T84M			Q9Y6H5	SNCAP_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232)	5	1679	+		all_cancers(142;0.00787)|Prostate(80;0.0327)	37					D3DSZ1|Q05BS1|Q1PSC2|Q49AC6|Q504U9|Q6L984|Q6L985|Q6L986|Q9HC59	Missense_Mutation	SNP	ENST00000261368.8	37	c.251C>T	CCDS4131.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.40|15.40	2.822941|2.822941	0.50739|0.50739	0.0|0.0	1.16E-4|1.16E-4	ENSG00000064692|ENSG00000064692	ENST00000379538;ENST00000414317;ENST00000447854|ENST00000514467;ENST00000506272;ENST00000508681;ENST00000509154;ENST00000261368;ENST00000379533;ENST00000379536;ENST00000261367;ENST00000503116;ENST00000504884	T;T|T;T;T;T;T;T;T;T;T;T	0.01725|0.48836	4.95;4.67|1.55;1.55;1.55;1.55;1.55;1.55;1.55;1.55;1.55;0.8	5.64|5.64	5.64|5.64	0.86602|0.86602	.|.	.|0.555807	.|0.19187	.|N	.|0.120533	T|T	0.41396|0.41396	0.1157|0.1157	N|N	0.08118|0.08118	0|0	0.80722|0.80722	D|D	1|1	P;P;P|P;D;D;D	0.47350|0.64830	0.83;0.894;0.894|0.923;0.994;0.979;0.964	B;B;B|B;P;P;B	0.39840|0.50617	0.165;0.311;0.311|0.178;0.646;0.557;0.354	T|T	0.51631|0.51631	-0.8681|-0.8681	9|10	0.87932|0.87932	D|D	0|0	-3.1259|-3.1259	17.4977|17.4977	0.87723|0.87723	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	28;22;22|37;84;84;37	B7Z995;Q9Y6H5-5;Q9Y6H5-2|D6R9G8;Q9Y6H5-6;Q9Y6H5-3;Q9Y6H5	.;.;.|.;.;.;SNCAP_HUMAN	C|M	22;28;28|37;84;37;37;37;84;37;84;84;37	ENSP00000368854:R22C;ENSP00000394392:R28C|ENSP00000427090:T37M;ENSP00000426551:T84M;ENSP00000422610:T37M;ENSP00000422106:T37M;ENSP00000261368:T37M;ENSP00000368848:T84M;ENSP00000368851:T37M;ENSP00000261367:T84M;ENSP00000423199:T84M;ENSP00000426904:T37M	ENSP00000368854:R22C|ENSP00000261367:T84M	R|T	+|+	1|2	0|0	SNCAIP|SNCAIP	121767439|121767439	0.949000|0.949000	0.32298|0.32298	0.068000|0.068000	0.19968|0.19968	0.061000|0.061000	0.15899|0.15899	5.261000|5.261000	0.65496|0.65496	2.662000|2.662000	0.90505|0.90505	0.655000|0.655000	0.94253|0.94253	CGC|ACG		0.463	SNCAIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250888.1			12	169	0	0	0	1	0	12	169					T	121739540	C	T	121739540	3	4	29	1	0	0	0	0	1	0	0	0	14841	536	19	1	116	1	SNCAIP	5	121739540	Missense_Mutation	SNP	C	TCGA-CH-5763-01A-11D-1576-08		121739540	59175720	9	1447											
TNXB	7148	broad.mit.edu	37	chr6	32037587	32037587	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgcagctcctcccccagaCggggttttgggggacgcttt	4	10	13	14	2	0	1	0	0	0	1	2	2	2	2	4	4	2	4	4	4	0	3			TCGA-CH-5763-01A-11D-1576-08	TCGA-CH-5763-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	581be6cf-9778-49c3-9c77-1316eaa78929	b3c65fbf-e781-4a0c-b76d-8a6c4535ccef	g.chr6:32037587C>T	ENST00000375244.3	-	15	5531	c.5330G>A	c.(5329-5331)cGt>cAt	p.R1777H	TNXB_ENST00000375247.2_Missense_Mutation_p.R1777H			P22105	TENX_HUMAN	tenascin XB	1859	Fibronectin type-III 10. {ECO:0000255|PROSITE-ProRule:PRU00316}.				actin cytoskeleton organization (GO:0030036)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|collagen fibril organization (GO:0030199)|collagen metabolic process (GO:0032963)|elastic fiber assembly (GO:0048251)|extracellular fibril organization (GO:0043206)|fatty acid metabolic process (GO:0006631)|regulation of JUN kinase activity (GO:0043506)|single organismal cell-cell adhesion (GO:0016337)|triglyceride metabolic process (GO:0006641)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)	p.R1864H(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						CTCCCCCAGACGGGGTTTTGG	0.582																																						ENST00000375244.3																			1	Substitution - Missense(1)	p.R1864H(1)	prostate(1)	endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						c.(5329-5331)cGt>cAt		tenascin XB							26	28	27					6																	32037587		1933	4136	6069	SO:0001583	missense	7148				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding	g.chr6:32037587C>T	X71923	CCDS4736.1	6p21.3	2013-02-11			ENSG00000168477	ENSG00000168477		"Fibrinogen C domain containing", "Fibronectin type III domain containing"	11976	protein-coding gene	gene with protein product		600985		TNXB1, TNXB2		8530023	Standard	NM_019105		Approved	TNXBS, XBS, XB	uc021yvf.2	P22105	OTTHUMG00000031088	ENST00000375244.3:c.5330G>A	6.37:g.32037587C>T	ENSP00000364393:p.Arg1777His					TNXB_ENST00000375247.2_Missense_Mutation_p.R1777H	p.R1777H			P22105	TENX_HUMAN			15	5531	-			1859			Fibronectin type-III 10.		P78530|P78531|Q08424|Q08AM0|Q08AM1|Q59GU7|Q5SQD3|Q5ST74|Q7L8Q4|Q8N4R1|Q9NPK9|Q9UC10|Q9UC11|Q9UC12|Q9UC13|Q9UMG7	Missense_Mutation	SNP	ENST00000375244.3	37	c.5330G>A		.	.	.	.	.	.	.	.	.	.	C	18.39	3.613912	0.66672	.	.	ENSG00000168477	ENST00000375244;ENST00000375247	T;T	0.57436	0.57;0.4	5.37	2.63	0.31362	.	0.775780	0.11180	N	0.591100	T	0.34366	0.0895	M	0.85710	2.77	0.09310	N	1	P	0.35821	0.523	B	0.32149	0.141	T	0.31052	-0.9957	10	0.48119	T	0.1	.	7.5404	0.27735	0.0:0.6572:0.0:0.3428	.	1777	P22105-3	.	H	1777	ENSP00000364393:R1777H;ENSP00000364396:R1777H	ENSP00000364393:R1777H	R	-	2	0	TNXB	32145565	0.000000	0.05858	0.096000	0.21009	0.988000	0.76386	-0.167000	0.09940	0.265000	0.21872	0.491000	0.48974	CGT		0.582	TNXB-001	PUTATIVE	not_organism_supported|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000268927.2	NM_019105		3	42	0	0	0	1	0	3	42					T	32037587	C	T	32037587	3	4	29	1	0	0	0	0	1	0	0	0	16343	536	19	1	9503	1	TNXB	6	32037587	Missense_Mutation	SNP	C	TCGA-CH-5763-01A-11D-1576-08		32037587	139077480	10	1448											
DAAM2	23500	broad.mit.edu	37	chr6	39832798	39832798	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgaggaggagacggagatgAggaaccaagtcgtggaagac	15	4	17	5	2	0	5	0	2	0	3	1	10	0	8	1	5	1	0	1	5	3	0			TCGA-CH-5763-01A-11D-1576-08	TCGA-CH-5763-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	581be6cf-9778-49c3-9c77-1316eaa78929	b3c65fbf-e781-4a0c-b76d-8a6c4535ccef	g.chr6:39832798A>G	ENST00000398904.2	+	5	558	c.376A>G	c.(376-378)Agg>Ggg	p.R126G	DAAM2_ENST00000274867.4_Missense_Mutation_p.R126G|DAAM2_ENST00000538976.1_Missense_Mutation_p.R126G|DAAM2_ENST00000494405.1_3'UTR			Q86T65	DAAM2_HUMAN	dishevelled associated activator of morphogenesis 2	126	GBD/FH3. {ECO:0000255|PROSITE- ProRule:PRU00579}.				actin cytoskeleton organization (GO:0030036)|determination of left/right symmetry (GO:0007368)			p.R126G(1)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(18)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)	49	Ovarian(28;0.0355)|Colorectal(47;0.196)					GACGGAGATGAGGAACCAAGT	0.557											OREG0017416	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000538976.1																			1	Substitution - Missense(1)	p.R126G(1)	prostate(1)	NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(18)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)	49						c.(376-378)Agg>Ggg		dishevelled associated activator of morphogenesis 2							100	118	112					6																	39832798		2095	4219	6314	SO:0001583	missense	23500				actin cytoskeleton organization		actin binding|Rho GTPase binding	g.chr6:39832798A>G	AB002379	CCDS54999.1, CCDS56426.1	6p21.1	2008-07-30			ENSG00000146122	ENSG00000146122			18143	protein-coding gene	gene with protein product		606627				11779461, 12632087	Standard	NM_015345		Approved	KIAA0381	uc003oow.3	Q86T65	OTTHUMG00000014653	ENST00000398904.2:c.376A>G	6.37:g.39832798A>G	ENSP00000381876:p.Arg126Gly		OREG0017416	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	888	DAAM2_ENST00000274867.4_Missense_Mutation_p.R126G|DAAM2_ENST00000398904.2_Missense_Mutation_p.R126G|DAAM2_ENST00000494405.1_3'UTR	p.R126G	NM_015345.3	NP_056160.2	Q86T65	DAAM2_HUMAN			5	558	+	Ovarian(28;0.0355)|Colorectal(47;0.196)		126			GBD/FH3.		G5EA45|Q5T4T8|Q5T4U0|Q9NQI5|Q9Y4G0	Missense_Mutation	SNP	ENST00000398904.2	37	c.376A>G	CCDS56426.1	.	.	.	.	.	.	.	.	.	.	a	21.7	4.192750	0.78902	.	.	ENSG00000146122	ENST00000274867;ENST00000398904;ENST00000538976	D;D;D	0.87103	-2.21;-2.21;-2.21	5.62	5.62	0.85841	GTPase-binding/formin homology 3 (1);Armadillo-type fold (1);Diaphanous GTPase-binding (1);	0.047393	0.85682	D	0.000000	D	0.86314	0.5903	M	0.78916	2.43	0.80722	D	1	P;P	0.42078	0.728;0.77	B;P	0.45998	0.366;0.5	D	0.86010	0.1500	10	0.33940	T	0.23	.	15.4809	0.75524	1.0:0.0:0.0:0.0	.	126;126	G5EA45;Q86T65	.;DAAM2_HUMAN	G	126	ENSP00000274867:R126G;ENSP00000381876:R126G;ENSP00000437808:R126G	ENSP00000274867:R126G	R	+	1	2	DAAM2	39940776	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.099000	0.57755	2.149000	0.67028	0.529000	0.55759	AGG		0.557	DAAM2-003	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000280648.1			2	14	0	0	0	1	0	2	14					G	39832798	A	G	39832798	3	3	29	1	0	0	0	0	1	0	0	0	4216	295	11	4	390	4	DAAM2	6	39832798	Missense_Mutation	SNP	A	TCGA-CH-5763-01A-11D-1576-08	7795211	39832798	131282269	11	1449											
ZER1	10444	broad.mit.edu	37	chr9	131503068	131503068	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aacctgaagacgctgatgaaCtgggaagtcattagttgagg	13	9	13	6	1	1	5	1	4	0	1	1	6	1	6	1	2	2	2	1	2	5	2			TCGA-CH-5763-01A-11D-1576-08	TCGA-CH-5763-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	581be6cf-9778-49c3-9c77-1316eaa78929	b3c65fbf-e781-4a0c-b76d-8a6c4535ccef	g.chr9:131503068C>T	ENST00000291900.2	-	12	2242	c.1836G>A	c.(1834-1836)caG>caA	p.Q612Q		NM_006336.2	NP_006327.2	Q7Z7L7	ZER1_HUMAN	zyg-11 related, cell cycle regulator	612					protein ubiquitination (GO:0016567)|regulation of ubiquitin-protein transferase activity (GO:0051438)	Cul2-RING ubiquitin ligase complex (GO:0031462)	ubiquitin-protein transferase activity (GO:0004842)	p.Q612Q(1)		endometrium(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	15						CGCTGATGAACTGGGAAGTCA	0.468																																						ENST00000291900.2																			1	Substitution - coding silent(1)	p.Q612Q(1)	prostate(1)	endometrium(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	15						c.(1834-1836)caG>caA		zyg-11 related, cell cycle regulator							122	110	114					9																	131503068		2203	4300	6503	SO:0001819	synonymous_variant	10444				ATP hydrolysis coupled proton transport|regulation of ubiquitin-protein ligase activity	Cul2-RING ubiquitin ligase complex|vacuolar proton-transporting V-type ATPase, V1 domain	protein binding|proton-transporting ATPase activity, rotational mechanism|ubiquitin-protein ligase activity	g.chr9:131503068C>T	X99802	CCDS6910.1	9q33.3	2013-01-17	2012-12-10	2007-01-04	ENSG00000160445	ENSG00000160445		"ZYG11 cell cycle regulator family"	30960	protein-coding gene	gene with protein product			"chromosome 9 open reading frame 60", "zyg-11 homolog B (C. elegans)-like", "zer-1 homolog (C. elegans)"	C9orf60, ZYG11BL		11719588	Standard	NM_006336		Approved	ZYG, Hzyg	uc004bwa.2	Q7Z7L7	OTTHUMG00000020759	ENST00000291900.2:c.1836G>A	9.37:g.131503068C>T							p.Q612Q	NM_006336.2	NP_006327.2	Q7Z7L7	ZER1_HUMAN			12	2242	-			612					O00156|Q5T272|Q5T273	Silent	SNP	ENST00000291900.2	37	c.1836G>A	CCDS6910.1																																																																																				0.468	ZER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054491.1	NM_006336		8	166	0	0	0	1	0	8	166					T	131503068	C	T	131503068	2	4	29	1	0	0	0	0	0	0	0	1	17622	564	20	3		3	ZER1	9	131503068	Silent	SNP	C	TCGA-CH-5763-01A-11D-1576-08		131503068	9710363	12	1450											
UBQLN3	50613	broad.mit.edu	37	chr11	5529391	5529391	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcagggattccaggaatggcTgccgtgggggaaaaagataa	13	7	15	6	1	1	1	1	0	0	1	2	4	2	4	2	5	1	1	2	5	4	2			TCGA-CH-5763-01A-11D-1576-08	TCGA-CH-5763-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	581be6cf-9778-49c3-9c77-1316eaa78929	b3c65fbf-e781-4a0c-b76d-8a6c4535ccef	g.chr11:5529391T>C	ENST00000311659.4	-	2	1545	c.1398A>G	c.(1396-1398)gcA>gcG	p.A466A	HBE1_ENST00000380237.1_5'Flank|HBG2_ENST00000380252.1_5'Flank|HBG2_ENST00000380259.2_Intron|AC104389.28_ENST00000415970.1_RNA	NM_017481.2	NP_059509.1	Q9H347	UBQL3_HUMAN	ubiquilin 3	466										NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|prostate(1)|skin(2)	39		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CAGGAATGGCTGCCGTGGGGG	0.547																																					Ovarian(72;684 1260 12332 41642 52180)	ENST00000311659.4																			0				NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|prostate(1)|skin(2)	39						c.(1396-1398)gcA>gcG		ubiquilin 3							58	67	64					11																	5529391		2201	4297	6498	SO:0001819	synonymous_variant	50613							g.chr11:5529391T>C	AF230481	CCDS7758.1	11p15	2013-02-12			ENSG00000175520	ENSG00000175520		"Ubiquilin family"	12510	protein-coding gene	gene with protein product		605473				10831842	Standard	NM_017481		Approved	TUP-1	uc001may.1	Q9H347	OTTHUMG00000066886	ENST00000311659.4:c.1398A>G	11.37:g.5529391T>C						HBG2_ENST00000380259.2_Intron	p.A466A	NM_017481.2	NP_059509.1	Q9H347	UBQL3_HUMAN		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	2	1545	-		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)	466					Q9NRE0	Silent	SNP	ENST00000311659.4	37	c.1398A>G	CCDS7758.1																																																																																				0.547	UBQLN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143348.1	NM_017481		5	102	0	0	0	1	0	5	102					C	5529391	T	C	5529391	2	2	29	1	0	0	0	0	0	0	0	1	16895	1567	55	4		4	UBQLN3	11	5529391	Silent	SNP	T	TCGA-CH-5763-01A-11D-1576-08		5529391	129477125	13	1451											
TRIM6	117854	broad.mit.edu	37	chr11	5632424	5632424	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggggttttcttagattatgAggctggtactgtctcctttt	5	19	11	6	0	2	2	0	1	2	1	3	2	2	2	1	4	1	3	1	4	3	7			TCGA-CH-5763-01A-11D-1576-08	TCGA-CH-5763-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	581be6cf-9778-49c3-9c77-1316eaa78929	b3c65fbf-e781-4a0c-b76d-8a6c4535ccef	g.chr11:5632424A>G	ENST00000278302.5	+	8	1459	c.1319A>G	c.(1318-1320)gAg>gGg	p.E440G	TRIM6_ENST00000380097.3_Missense_Mutation_p.E468G|TRIM6_ENST00000515022.1_Missense_Mutation_p.E265G|TRIM6_ENST00000481603.1_3'UTR|AC015691.13_ENST00000394793.2_RNA|TRIM6-TRIM34_ENST00000354852.5_Intron|TRIM6_ENST00000506134.1_Missense_Mutation_p.E265G|TRIM6_ENST00000445329.1_Missense_Mutation_p.E265G|TRIM6_ENST00000507320.1_Missense_Mutation_p.E265G|HBG2_ENST00000380259.2_Intron|TRIM6_ENST00000380107.1_Missense_Mutation_p.E414G	NM_001198645.1|NM_058166.4	NP_001185574.1|NP_477514.1	Q9C030	TRIM6_HUMAN	tripartite motif containing 6	440	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				protein trimerization (GO:0070206)	cytoplasm (GO:0005737)	zinc ion binding (GO:0008270)	p.E468G(2)		breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(5)|prostate(2)|stomach(1)	22		Lung NSC(207;2.23e-07)|all_lung(207;1.81e-06)|Medulloblastoma(188;0.00225)|Breast(177;0.0101)|all_neural(188;0.0212)		Epithelial(150;1.12e-45)|BRCA - Breast invasive adenocarcinoma(625;0.00101)|LUSC - Lung squamous cell carcinoma(625;0.192)		TTAGATTATGAGGCTGGTACT	0.433																																						ENST00000380097.3																			2	Substitution - Missense(2)	p.E468G(2)	prostate(2)	breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(5)|prostate(2)|stomach(1)	22						c.(1402-1404)gAg>gGg		tripartite motif containing 6							137	132	134					11																	5632424		2201	4297	6498	SO:0001583	missense	117854							g.chr11:5632424A>G	AF220030	CCDS31389.1, CCDS31390.1, CCDS55738.1	11p15	2013-01-09	2011-01-25		ENSG00000121236	ENSG00000121236		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	16277	protein-coding gene	gene with protein product		607564	"tripartite motif-containing 6"			11331580	Standard	NM_058166		Approved	RNF89		Q9C030	OTTHUMG00000150029	ENST00000278302.5:c.1319A>G	11.37:g.5632424A>G	ENSP00000278302:p.Glu440Gly					TRIM6_ENST00000278302.5_Missense_Mutation_p.E440G|TRIM6_ENST00000481603.1_3'UTR|TRIM6_ENST00000515022.1_Missense_Mutation_p.E265G|TRIM6_ENST00000506134.1_Missense_Mutation_p.E265G|HBG2_ENST00000380259.2_Intron|TRIM6_ENST00000445329.1_Missense_Mutation_p.E265G|TRIM6_ENST00000507320.1_Missense_Mutation_p.E265G|AC015691.13_ENST00000394793.2_RNA|TRIM6_ENST00000380107.1_Missense_Mutation_p.E414G|TRIM6-TRIM34_ENST00000354852.5_Intron	p.E468G	NM_001003818.2|NM_001198644.1|NM_001198645.1	NP_001003818.1|NP_001185573.1|NP_001185574.1				Epithelial(150;1.12e-45)|BRCA - Breast invasive adenocarcinoma(625;0.00101)|LUSC - Lung squamous cell carcinoma(625;0.192)	8	1645	+		Lung NSC(207;2.23e-07)|all_lung(207;1.81e-06)|Medulloblastoma(188;0.00225)|Breast(177;0.0101)|all_neural(188;0.0212)						A8K2A7|B4DDQ5|Q86WZ8|Q9HCR1	Missense_Mutation	SNP	ENST00000278302.5	37	c.1403A>G	CCDS31390.1	.	.	.	.	.	.	.	.	.	.	A	21.8	4.200884	0.79015	.	.	ENSG00000121236	ENST00000278302;ENST00000507320;ENST00000380107;ENST00000380097;ENST00000445329;ENST00000396867;ENST00000515022;ENST00000506134	T;T;T;T;T;T;T	0.65549	-0.16;-0.16;-0.16;-0.16;-0.16;-0.16;-0.16	4.07	4.07	0.47477	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);Butyrophylin-like (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	.	.	.	.	T	0.71813	0.3384	M	0.91872	3.25	0.80722	D	1	B;P;P	0.47762	0.031;0.9;0.863	B;B;P	0.45377	0.201;0.346;0.478	T	0.79771	-0.1663	9	0.87932	D	0	.	11.6412	0.51233	1.0:0.0:0.0:0.0	.	414;468;440	E9PFM0;Q9C030-2;Q9C030	.;.;TRIM6_HUMAN	G	440;265;414;468;265;347;265;265	ENSP00000278302:E440G;ENSP00000427704:E265G;ENSP00000369450:E414G;ENSP00000369440:E468G;ENSP00000399215:E265G;ENSP00000421802:E265G;ENSP00000421079:E265G	ENSP00000278302:E440G	E	+	2	0	TRIM6	5589000	1.000000	0.71417	0.997000	0.53966	0.932000	0.56968	8.636000	0.91010	2.079000	0.62486	0.402000	0.26972	GAG		0.433	TRIM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143376.2	NM_001003818		14	316	0	0	0	1	0	14	316					G	5632424	A	G	5632424	3	3	29	1	0	0	0	0	1	0	0	0	16530	304	11	4	1433	4	TRIM6	11	5632424	Missense_Mutation	SNP	A	TCGA-CH-5763-01A-11D-1576-08	103033	5632424	129374092	14	1452											
OR5B17	219965	broad.mit.edu	37	chr11	58126475	58126475	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	taaacatgataaagaggggaAcctgtagttctggggcattg	13	10	13	5	0	1	2	0	1	1	1	1	3	1	3	1	4	2	3	1	4	6	5			TCGA-CH-5763-01A-11D-1576-08	TCGA-CH-5763-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	581be6cf-9778-49c3-9c77-1316eaa78929	b3c65fbf-e781-4a0c-b76d-8a6c4535ccef	g.chr11:58126475A>C	ENST00000357377.3	-	1	67	c.68T>G	c.(67-69)gTt>gGt	p.V23G		NM_001005489.1	NP_001005489.1	Q8NGF7	OR5BH_HUMAN	olfactory receptor, family 5, subfamily B, member 17	23						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V23G(1)		NS(1)|autonomic_ganglia(1)|endometrium(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				AAAGAGGGGAACCTGTAGTTC	0.438																																						ENST00000357377.3																			1	Substitution - Missense(1)	p.V23G(1)	prostate(1)	NS(1)|autonomic_ganglia(1)|endometrium(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						c.(67-69)gTt>gGt		olfactory receptor, family 5, subfamily B, member 17							95	96	95					11																	58126475		2201	4295	6496	SO:0001583	missense	219965				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:58126475A>C	AB065849	CCDS31548.1	11q12.1	2012-08-09			ENSG00000197786	ENSG00000197786		"GPCR / Class A : Olfactory receptors"	15267	protein-coding gene	gene with protein product				OR5B20P			Standard	NM_001005489		Approved		uc010rke.2	Q8NGF7	OTTHUMG00000167465	ENST00000357377.3:c.68T>G	11.37:g.58126475A>C	ENSP00000349945:p.Val23Gly						p.V23G	NM_001005489.1	NP_001005489.1	Q8NGF7	OR5BH_HUMAN			1	67	-	Esophageal squamous(5;0.0027)	Breast(21;0.0778)	23					Q6IEX1	Missense_Mutation	SNP	ENST00000357377.3	37	c.68T>G	CCDS31548.1	.	.	.	.	.	.	.	.	.	.	a	7.723	0.697672	0.15106	.	.	ENSG00000197786	ENST00000357377	T	0.00466	7.23	3.6	2.41	0.29592	.	.	.	.	.	T	0.00384	0.0012	L	0.37466	1.105	0.09310	N	1	B	0.14012	0.009	B	0.12837	0.008	T	0.41161	-0.9524	9	0.44086	T	0.13	-1.8832	8.7503	0.34611	0.8078:0.1922:0.0:0.0	.	23	Q8NGF7	OR5BH_HUMAN	G	23	ENSP00000349945:V23G	ENSP00000349945:V23G	V	-	2	0	OR5B17	57883051	0.000000	0.05858	0.001000	0.08648	0.119000	0.20118	-0.131000	0.10482	0.428000	0.26173	0.378000	0.23410	GTT		0.438	OR5B17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394708.2	NM_001005489		11	166	0	0	0	1	0	11	166					C	58126475	A	C	58126475	3	2	29	1	0	0	0	0	1	0	0	0	11149	43	2	5	878	5	OR5B17	11	58126475	Missense_Mutation	SNP	A	TCGA-CH-5763-01A-11D-1576-08	52494051	58126475	76880041	15	1453											
GRIA4	2893	broad.mit.edu	37	chr11	105774694	105774694	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccagggaattgacatggagaGgacactcaaacaggtaactc	15	6	11	9	0	1	2	1	1	0	1	2	5	1	4	1	4	2	1	1	4	3	2			TCGA-CH-5763-01A-11D-1576-08	TCGA-CH-5763-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	581be6cf-9778-49c3-9c77-1316eaa78929	b3c65fbf-e781-4a0c-b76d-8a6c4535ccef	g.chr11:105774694G>A	ENST00000530497.1	+	7	1040	c.1040G>A	c.(1039-1041)aGg>aAg	p.R347K	GRIA4_ENST00000393125.2_Missense_Mutation_p.R347K|GRIA4_ENST00000393127.2_Missense_Mutation_p.R347K|GRIA4_ENST00000525187.1_Missense_Mutation_p.R347K|GRIA4_ENST00000428631.2_Missense_Mutation_p.R347K|GRIA4_ENST00000282499.5_Missense_Mutation_p.R347K			P48058	GRIA4_HUMAN	glutamate receptor, ionotropic, AMPA 4	347					glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|vesicle (GO:0031982)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)|ionotropic glutamate receptor activity (GO:0004970)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(24)|liver(2)|lung(25)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	82		Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323)		BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899)		GACATGGAGAGGACACTCAAA	0.398																																						ENST00000393127.2																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(24)|liver(2)|lung(25)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	82						c.(1039-1041)aGg>aAg		glutamate receptor, ionotropic, AMPA 4	L-Glutamic Acid(DB00142)						83	89	87					11																	105774694		2202	4299	6501	SO:0001583	missense	0				glutamate signaling pathway|synaptic transmission	cell junction|endocytic vesicle membrane|integral to membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity	g.chr11:105774694G>A	U16129	CCDS8333.1, CCDS41706.1, CCDS41707.1	11q22	2012-08-29	2012-02-03		ENSG00000152578	ENSG00000152578		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4574	protein-coding gene	gene with protein product		138246	"glutamate receptor, ionotrophic, AMPA 4"	GLUR4			Standard	NM_001077244		Approved	GluA4, GLURD	uc001pix.2	P48058	OTTHUMG00000166236	ENST00000530497.1:c.1040G>A	11.37:g.105774694G>A	ENSP00000435775:p.Arg347Lys					GRIA4_ENST00000428631.2_Missense_Mutation_p.R347K|GRIA4_ENST00000525187.1_Missense_Mutation_p.R347K|GRIA4_ENST00000393125.2_Missense_Mutation_p.R347K|GRIA4_ENST00000282499.5_Missense_Mutation_p.R347K|GRIA4_ENST00000530497.1_Missense_Mutation_p.R347K	p.R347K	NM_001077243.2	NP_001070711.2	P48058	GRIA4_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899)	8	1486	+		Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323)	347					Q86XE8	Missense_Mutation	SNP	ENST00000530497.1	37	c.1040G>A	CCDS8333.1	.	.	.	.	.	.	.	.	.	.	G	34	5.350140	0.95830	.	.	ENSG00000152578	ENST00000393125;ENST00000282499;ENST00000393127;ENST00000428631;ENST00000530497;ENST00000525187	D;D;D;D;D;D	0.83506	-1.73;-1.73;-1.73;-1.73;-1.73;-1.73	5.77	5.77	0.91146	Extracellular ligand-binding receptor (1);	0.000000	0.85682	D	0.000000	D	0.90181	0.6931	L	0.59436	1.845	0.80722	D	1	B;P;P	0.51057	0.005;0.94;0.941	B;D;P	0.70935	0.015;0.971;0.859	D	0.89390	0.3688	10	0.59425	D	0.04	.	20.3626	0.98863	0.0:0.0:1.0:0.0	.	347;347;347	P48058;G3V164;Q86XE8	GRIA4_HUMAN;.;.	K	347	ENSP00000376833:R347K;ENSP00000282499:R347K;ENSP00000376835:R347K;ENSP00000415551:R347K;ENSP00000435775:R347K;ENSP00000432180:R347K	ENSP00000282499:R347K	R	+	2	0	GRIA4	105279904	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	9.420000	0.97426	2.885000	0.99019	0.655000	0.94253	AGG		0.398	GRIA4-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000388593.1			4	111	0	0	0	1	0	4	111					A	105774694	G	A	105774694	3	1	29	1	0	0	0	0	1	0	0	0	6770	1000	35	3	1066	3	GRIA4	11	105774694	Missense_Mutation	SNP	G	TCGA-CH-5763-01A-11D-1576-08	47648219	105774694	29231822	16	1454											
DRD2	1813	broad.mit.edu	37	chr11	113295366	113295366	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cataccaggacagattcagtGgatccatcagggcggtggag	11	7	14	9	1	2	1	2	0	0	1	3	4	3	4	2	5	1	0	2	5	1	2			TCGA-CH-5763-01A-11D-1576-08	TCGA-CH-5763-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	581be6cf-9778-49c3-9c77-1316eaa78929	b3c65fbf-e781-4a0c-b76d-8a6c4535ccef	g.chr11:113295366G>A	ENST00000362072.3	-	2	352	c.8C>T	c.(7-9)cCa>cTa	p.P3L	DRD2_ENST00000538967.1_Missense_Mutation_p.P3L|DRD2_ENST00000544518.1_Missense_Mutation_p.P3L|DRD2_ENST00000346454.3_Missense_Mutation_p.P3L|DRD2_ENST00000535984.1_5'Flank|DRD2_ENST00000542968.1_Missense_Mutation_p.P3L|DRD2_ENST00000355319.2_Missense_Mutation_p.P3L	NM_000795.3	NP_000786.1	P14416	DRD2_HUMAN	dopamine receptor D2	3					activation of protein kinase activity (GO:0032147)|adenohypophysis development (GO:0021984)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|adult walking behavior (GO:0007628)|arachidonic acid secretion (GO:0050482)|associative learning (GO:0008306)|auditory behavior (GO:0031223)|axonogenesis (GO:0007409)|behavioral response to cocaine (GO:0048148)|behavioral response to ethanol (GO:0048149)|branching morphogenesis of a nerve (GO:0048755)|cellular calcium ion homeostasis (GO:0006874)|cerebral cortex GABAergic interneuron migration (GO:0021853)|circadian regulation of gene expression (GO:0032922)|dopamine metabolic process (GO:0042417)|feeding behavior (GO:0007631)|G-protein coupled receptor internalization (GO:0002031)|grooming behavior (GO:0007625)|intracellular signal transduction (GO:0035556)|locomotory behavior (GO:0007626)|long-term memory (GO:0007616)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of blood pressure (GO:0045776)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of circadian sleep/wake cycle, sleep (GO:0042321)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|negative regulation of dopamine receptor signaling pathway (GO:0060160)|negative regulation of dopamine secretion (GO:0033602)|negative regulation of insulin secretion (GO:0046676)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein secretion (GO:0050709)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|negative regulation of voltage-gated calcium channel activity (GO:1901386)|neurological system process involved in regulation of systemic arterial blood pressure (GO:0001976)|neuron-neuron synaptic transmission (GO:0007270)|orbitofrontal cortex development (GO:0021769)|peristalsis (GO:0030432)|phosphatidylinositol metabolic process (GO:0046488)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|pigmentation (GO:0043473)|positive regulation of cytokinesis (GO:0032467)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of dopamine uptake involved in synaptic transmission (GO:0051586)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)|positive regulation of growth hormone secretion (GO:0060124)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of receptor internalization (GO:0002092)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of urine volume (GO:0035810)|prepulse inhibition (GO:0060134)|protein localization (GO:0008104)|regulation of cAMP metabolic process (GO:0030814)|regulation of dopamine uptake involved in synaptic transmission (GO:0051584)|regulation of heart rate (GO:0002027)|regulation of locomotion involved in locomotory behavior (GO:0090325)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of phosphoprotein phosphatase activity (GO:0043666)|regulation of potassium ion transport (GO:0043266)|regulation of sodium ion transport (GO:0002028)|regulation of synapse structural plasticity (GO:0051823)|regulation of synaptic transmission, GABAergic (GO:0032228)|release of sequestered calcium ion into cytosol (GO:0051209)|response to amphetamine (GO:0001975)|response to axon injury (GO:0048678)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|response to histamine (GO:0034776)|response to hypoxia (GO:0001666)|response to inactivity (GO:0014854)|response to iron ion (GO:0010039)|response to light stimulus (GO:0009416)|response to morphine (GO:0043278)|response to nicotine (GO:0035094)|response to toxic substance (GO:0009636)|sensory perception of smell (GO:0007608)|striatum development (GO:0021756)|synapse assembly (GO:0007416)|synaptic transmission, dopaminergic (GO:0001963)|temperature homeostasis (GO:0001659)|visual learning (GO:0008542)|Wnt signaling pathway (GO:0016055)	acrosomal vesicle (GO:0001669)|axon (GO:0030424)|axon terminus (GO:0043679)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|endocytic vesicle (GO:0030139)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|sperm flagellum (GO:0036126)|synaptic vesicle membrane (GO:0030672)	dopamine binding (GO:0035240)|dopamine neurotransmitter receptor activity, coupled via Gi/Go (GO:0001591)|drug binding (GO:0008144)|identical protein binding (GO:0042802)|potassium channel regulator activity (GO:0015459)	p.P3L(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(18)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	39		all_cancers(61;3.91e-16)|all_epithelial(67;2.95e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000977)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0494)		BRCA - Breast invasive adenocarcinoma(274;5.77e-06)|Epithelial(105;6.66e-05)|all cancers(92;0.000307)|OV - Ovarian serous cystadenocarcinoma(223;0.216)	Acepromazine(DB01614)|Acetophenazine(DB01063)|Alizapride(DB01425)|Amantadine(DB00915)|Amisulpride(DB06288)|Amoxapine(DB00543)|Amphetamine(DB00182)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bromocriptine(DB01200)|Buspirone(DB00490)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Desipramine(DB01151)|Domperidone(DB01184)|Dopamine(DB00988)|Doxepin(DB01142)|Droperidol(DB00450)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Flupentixol(DB00875)|Fluphenazine(DB00623)|Fluspirilene(DB04842)|Haloperidol(DB00502)|Iloperidone(DB04946)|Imipramine(DB00458)|Ketamine(DB01221)|L-DOPA(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Lurasidone(DB08815)|Maprotiline(DB00934)|Memantine(DB01043)|Mesoridazine(DB00933)|Methotrimeprazine(DB01403)|Metoclopramide(DB01233)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Molindone(DB01618)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Perphenazine(DB00850)|Pimozide(DB01100)|Pipotiazine(DB01621)|Pramipexole(DB00413)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Remoxipride(DB00409)|Risperidone(DB00734)|Ropinirole(DB00268)|Rotigotine(DB05271)|Sertindole(DB06144)|Sulpiride(DB00391)|Tetrabenazine(DB04844)|Thioproperazine(DB01622)|Thioridazine(DB00679)|Thiothixene(DB01623)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Trimipramine(DB00726)|Yohimbine(DB01392)|Ziprasidone(DB00246)	CAGATTCAGTGGATCCATCAG	0.582																																						ENST00000362072.3																			1	Substitution - Missense(1)	p.P3L(1)	prostate(1)	endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(18)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	39						c.(7-9)cCa>cTa		dopamine receptor D2	Acetophenazine(DB01063)|Amantadine(DB00915)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Bromocriptine(DB01200)|Buspirone(DB00490)|Cabergoline(DB00248)|Carphenazine(DB01038)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Domperidone(DB01184)|Droperidol(DB00450)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Fluphenazine(DB00623)|Fluspirilene(DB04842)|Haloperidol(DB00502)|Levodopa(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Mesoridazine(DB00933)|Metoclopramide(DB01233)|Minaprine(DB00805)|Molindone(DB01618)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Perphenazine(DB00850)|Pimozide(DB01100)|Pramipexole(DB00413)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Remoxipride(DB00409)|Risperidone(DB00734)|Ropinirole(DB00268)|Sertindole(DB06144)|Sulpiride(DB00391)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Tranylcypromine(DB00752)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Ziprasidone(DB00246)|Zuclopenthixol(DB01624)						81	76	78					11																	113295366		2201	4296	6497	SO:0001583	missense	1813				activation of phospholipase C activity by dopamine receptor signaling pathway|adenohypophysis development|adult walking behavior|arachidonic acid secretion|axonogenesis|behavioral response to cocaine|behavioral response to ethanol|branching morphogenesis of a nerve|cerebral cortex GABAergic interneuron migration|circadian regulation of gene expression|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|intracellular protein kinase cascade|negative regulation of blood pressure|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of dopamine receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of protein secretion|negative regulation of synaptic transmission, glutamatergic|neurological system process involved in regulation of systemic arterial blood pressure|peristalsis|phosphatidylinositol metabolic process|positive regulation of dopamine uptake|positive regulation of growth hormone secretion|positive regulation of neuroblast proliferation|prepulse inhibition|protein localization|regulation of heart rate|regulation of long-term neuronal synaptic plasticity|regulation of potassium ion transport|regulation of sodium ion transport|regulation of synaptic transmission, GABAergic|release of sequestered calcium ion into cytosol|response to amphetamine|response to drug|response to histamine|response to morphine|sensory perception of smell|synapse assembly|temperature homeostasis|visual learning	integral to plasma membrane	dopamine D2 receptor activity|dopamine receptor activity, coupled via Gi/Go|drug binding|potassium channel regulator activity|protein binding	g.chr11:113295366G>A	M29066	CCDS8361.1, CCDS8362.1	11q22-q23	2012-08-08						"GPCR / Class A : Dopamine receptors"	3023	protein-coding gene	gene with protein product		126450					Standard	NM_000795		Approved		uc001poa.4	P14416		ENST00000362072.3:c.8C>T	11.37:g.113295366G>A	ENSP00000354859:p.Pro3Leu					DRD2_ENST00000542968.1_Missense_Mutation_p.P3L|DRD2_ENST00000538967.1_Missense_Mutation_p.P3L|DRD2_ENST00000346454.3_Missense_Mutation_p.P3L|DRD2_ENST00000544518.1_Missense_Mutation_p.P3L|DRD2_ENST00000355319.2_Missense_Mutation_p.P3L	p.P3L	NM_000795.3	NP_000786.1	P14416	DRD2_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.77e-06)|Epithelial(105;6.66e-05)|all cancers(92;0.000307)|OV - Ovarian serous cystadenocarcinoma(223;0.216)	2	352	-		all_cancers(61;3.91e-16)|all_epithelial(67;2.95e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000977)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0494)	3					Q9NZR3|Q9UPA9	Missense_Mutation	SNP	ENST00000362072.3	37	c.8C>T	CCDS8361.1	.	.	.	.	.	.	.	.	.	.	G	15.94	2.980136	0.53827	.	.	ENSG00000149295	ENST00000355319;ENST00000346454;ENST00000362072;ENST00000544518;ENST00000542968;ENST00000538967;ENST00000543292;ENST00000542616	T;T;T;T;T;T;T	0.72505	-0.65;-0.61;-0.63;-0.66;-0.63;-0.65;-0.66	5.49	5.49	0.81192	.	0.286980	0.40302	N	0.001136	T	0.57154	0.2034	N	0.19112	0.55	0.52501	D	0.999952	B;B;B;B	0.13145	0.007;0.007;0.006;0.004	B;B;B;B	0.13407	0.009;0.009;0.006;0.004	T	0.53563	-0.8421	10	0.11182	T	0.66	.	19.3619	0.94442	0.0:0.0:1.0:0.0	.	3;3;3;3	F8VUV1;P14416-3;P14416-2;P14416	.;.;.;DRD2_HUMAN	L	3	ENSP00000347474:P3L;ENSP00000278597:P3L;ENSP00000354859:P3L;ENSP00000441068:P3L;ENSP00000442172:P3L;ENSP00000438215:P3L;ENSP00000438419:P3L	ENSP00000278597:P3L	P	-	2	0	DRD2	112800576	1.000000	0.71417	0.997000	0.53966	0.990000	0.78478	5.571000	0.67404	2.581000	0.87130	0.561000	0.74099	CCA		0.582	DRD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395834.1	NM_000795		4	79	0	0	0	1	0	4	79					A	113295366	G	A	113295366	3	1	29	1	0	0	0	0	1	0	0	0	4757	1348	47	3	1351	3	DRD2	11	113295366	Missense_Mutation	SNP	G	TCGA-CH-5763-01A-11D-1576-08	7520672	113295366	21711150	17	1455											
LRIG3	121227	broad.mit.edu	37	chr12	59267899	59267899	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ttgcactaaaatctaaagagGacttgtttagacacagattt	15	13	7	6	0	1	3	0	0	1	3	1	4	1	4	0	1	1	2	0	1	5	7			TCGA-CH-5763-01A-11D-1576-08	TCGA-CH-5763-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	581be6cf-9778-49c3-9c77-1316eaa78929	b3c65fbf-e781-4a0c-b76d-8a6c4535ccef	g.chr12:59267899G>A	ENST00000320743.3	-	18	3339	c.3053C>T	c.(3052-3054)tCc>tTc	p.S1018F	LRIG3_ENST00000379141.4_Missense_Mutation_p.S958F	NM_153377.4	NP_700356.2	Q6UXM1	LRIG3_HUMAN	leucine-rich repeats and immunoglobulin-like domains 3	1018					otolith morphogenesis (GO:0032474)	cytoplasmic vesicle (GO:0031410)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.S1018F(2)	LRIG3/ROS1(2)	breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(12)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48			GBM - Glioblastoma multiforme(1;1.17e-18)			ATCTAAAGAGGACTTGTTTAG	0.403			T	ROS1	NSCLC																																	ENST00000320743.3				Dom	yes		12	12q14.1	121227	T	leucine-rich repeats and immunoglobulin-like domains 3			E	ROS1		NSCLC	LRIG3/ROS1(2)	2	Substitution - Missense(2)	p.S1018F(2)	prostate(2)	breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(12)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						c.(3052-3054)tCc>tTc		leucine-rich repeats and immunoglobulin-like domains 3							78	80	80					12																	59267899		2203	4300	6503	SO:0001583	missense	121227					integral to membrane		g.chr12:59267899G>A	AY505340	CCDS8960.1, CCDS44933.1	12q13.2	2013-01-11				ENSG00000139263		"Immunoglobulin superfamily / I-set domain containing"	30991	protein-coding gene	gene with protein product		608870					Standard	NM_153377		Approved	FLJ90440, KIAA3016	uc001sqr.4	Q6UXM1	OTTHUMG00000169940	ENST00000320743.3:c.3053C>T	12.37:g.59267899G>A	ENSP00000326759:p.Ser1018Phe					LRIG3_ENST00000379141.4_Missense_Mutation_p.S958F	p.S1018F	NM_153377.4	NP_700356.2	Q6UXM1	LRIG3_HUMAN	GBM - Glioblastoma multiforme(1;1.17e-18)		18	3339	-			1018					Q6UXL7|Q8NC72	Missense_Mutation	SNP	ENST00000320743.3	37	c.3053C>T	CCDS8960.1	.	.	.	.	.	.	.	.	.	.	G	13.69	2.312290	0.40895	.	.	ENSG00000139263	ENST00000379141;ENST00000320743	T;T	0.60797	0.2;0.16	5.63	4.67	0.58626	.	0.235757	0.22038	N	0.065490	T	0.44286	0.1286	L	0.36672	1.1	0.25937	N	0.982928	P;B	0.36315	0.547;0.214	B;B	0.34301	0.179;0.136	T	0.36817	-0.9732	9	.	.	.	.	10.7486	0.46196	0.0:0.0:0.6792:0.3208	.	958;1018	Q6UXM1-2;Q6UXM1	.;LRIG3_HUMAN	F	958;1018	ENSP00000368436:S958F;ENSP00000326759:S1018F	.	S	-	2	0	LRIG3	57554166	0.926000	0.31397	0.998000	0.56505	0.506000	0.33950	2.411000	0.44600	2.649000	0.89929	0.650000	0.86243	TCC		0.403	LRIG3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406623.1	NM_153377		11	219	0	0	0	1	0	11	219					A	59267899	G	A	59267899	3	1	29	1	0	0	0	0	1	0	0	0	8946	1174	41	3	314	3	LRIG3	12	59267899	Missense_Mutation	SNP	G	TCGA-CH-5763-01A-11D-1576-08		59267899	74583996	18	1456											
MED13L	23389	broad.mit.edu	37	chr12	116446661	116446661	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcatatttcctactgctagaCacctctaaggaggagtctat	11	13	7	10	0	3	1	1	0	2	1	4	3	4	3	2	2	2	1	2	2	5	6			TCGA-CH-5763-01A-11D-1576-08	TCGA-CH-5763-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	581be6cf-9778-49c3-9c77-1316eaa78929	b3c65fbf-e781-4a0c-b76d-8a6c4535ccef	g.chr12:116446661C>A	ENST00000281928.3	-	10	1763	c.1557G>T	c.(1555-1557)gtG>gtT	p.V519V		NM_015335.4	NP_056150.1	Q71F56	MD13L_HUMAN	mediator complex subunit 13-like	519						mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)	p.V519V(1)		NS(2)|breast(1)|endometrium(9)|kidney(3)|large_intestine(18)|lung(34)|ovary(4)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	85	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0407)		TACTGCTAGACACCTCTAAGG	0.453																																						ENST00000281928.3																			1	Substitution - coding silent(1)	p.V519V(1)	prostate(1)	NS(2)|breast(1)|endometrium(9)|kidney(3)|large_intestine(18)|lung(34)|ovary(4)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	85						c.(1555-1557)gtG>gtT		mediator complex subunit 13-like							148	134	138					12																	116446661		2203	4300	6503	SO:0001819	synonymous_variant	23389				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent			g.chr12:116446661C>A	AB028948	CCDS9177.1	12q24.22	2010-07-29	2007-07-30	2007-07-30	ENSG00000123066	ENSG00000123066			22962	protein-coding gene	gene with protein product		608771	"thyroid hormone receptor associated protein 2"	THRAP2			Standard	NM_015335		Approved	KIAA1025, TRAP240L	uc001tvw.3	Q71F56	OTTHUMG00000169404	ENST00000281928.3:c.1557G>T	12.37:g.116446661C>A							p.V519V	NM_015335.4	NP_056150.1	Q71F56	MD13L_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.0407)	10	1763	-	all_neural(191;0.117)|Medulloblastoma(191;0.163)		519					A1L469|Q68DN4|Q9H8C0|Q9NSY9|Q9UFD8|Q9UPX5	Silent	SNP	ENST00000281928.3	37	c.1557G>T	CCDS9177.1																																																																																				0.453	MED13L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403879.3			7	97	1	0	0.000157383	1	0.000182905	7	97					A	116446661	C	A	116446661	2	1	29	1	0	0	0	0	0	0	0	1	9431	465	17	5		5	MED13L	12	116446661	Silent	SNP	C	TCGA-CH-5763-01A-11D-1576-08	57178762	116446661	17405234	19	1457											
P2RX2	22953	broad.mit.edu	37	chr12	133197607	133197607	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggtggtgtcatcggggtcatTatcaactgggactgtgacct	7	12	14	8	1	3	1	3	1	0	0	4	2	3	2	1	5	1	0	1	5	2	1			TCGA-CH-5763-01A-11D-1576-08	TCGA-CH-5763-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	581be6cf-9778-49c3-9c77-1316eaa78929	b3c65fbf-e781-4a0c-b76d-8a6c4535ccef	g.chr12:133197607T>C	ENST00000389110.3	+	8	832	c.795T>C	c.(793-795)atT>atC	p.I265I	P2RX2_ENST00000449132.2_Silent_p.I231I|P2RX2_ENST00000350048.5_Silent_p.I241I|P2RX2_ENST00000343948.4_Silent_p.I265I|P2RX2_ENST00000352418.4_Silent_p.I193I|P2RX2_ENST00000348800.5_Silent_p.I265I|P2RX2_ENST00000351222.4_Silent_p.I173I	NM_170682.2|NM_170683.2|NM_174873.1	NP_733782.1|NP_733783.1|NP_777362.1	Q9UBL9	P2RX2_HUMAN	purinergic receptor P2X, ligand-gated ion channel, 2	265					behavioral response to pain (GO:0048266)|cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|detection of hypoxic conditions in blood by carotid body chemoreceptor signaling (GO:0003029)|ion transmembrane transport (GO:0034220)|neuromuscular junction development (GO:0007528)|neuromuscular synaptic transmission (GO:0007274)|neuronal action potential (GO:0019228)|peristalsis (GO:0030432)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of calcium-mediated signaling (GO:0050850)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|purinergic nucleotide receptor signaling pathway (GO:0035590)|response to ATP (GO:0033198)|response to carbohydrate (GO:0009743)|response to hypoxia (GO:0001666)|sensory perception of sound (GO:0007605)|sensory perception of taste (GO:0050909)|skeletal muscle fiber development (GO:0048741)|urinary bladder smooth muscle contraction (GO:0014832)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|dendritic spine (GO:0043197)|integral component of nuclear inner membrane (GO:0005639)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|postsynaptic density (GO:0014069)|presynaptic membrane (GO:0042734)|receptor complex (GO:0043235)|terminal bouton (GO:0043195)	ATP binding (GO:0005524)|cadmium ion binding (GO:0046870)|cobalt ion binding (GO:0050897)|copper ion binding (GO:0005507)|drug binding (GO:0008144)|extracellular ATP-gated cation channel activity (GO:0004931)|identical protein binding (GO:0042802)|ligand-gated ion channel activity (GO:0015276)|mercury ion binding (GO:0045340)|nickel cation binding (GO:0016151)|phosphatidylinositol binding (GO:0035091)|purinergic nucleotide receptor activity (GO:0001614)|zinc ion binding (GO:0008270)	p.I265I(1)		NS(1)|breast(1)|kidney(2)|large_intestine(2)|liver(2)|lung(8)|ovary(1)|prostate(3)	20	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0767)		OV - Ovarian serous cystadenocarcinoma(86;2.32e-08)|Epithelial(86;8.62e-08)|all cancers(50;4.5e-06)		TCGGGGTCATTATCAACTGGG	0.637																																						ENST00000389110.3																			1	Substitution - coding silent(1)	p.I265I(1)	prostate(1)	NS(1)|breast(1)|kidney(2)|large_intestine(2)|liver(2)|lung(8)|ovary(1)|prostate(3)	20						c.(793-795)atT>atC		purinergic receptor P2X, ligand-gated ion channel, 2							126	104	111					12																	133197607		2203	4300	6503	SO:0001819	synonymous_variant	0				positive regulation of calcium ion transport into cytosol|positive regulation of calcium-mediated signaling|protein homooligomerization	integral to membrane	ATP binding|extracellular ATP-gated cation channel activity|identical protein binding|purinergic nucleotide receptor activity	g.chr12:133197607T>C	AF109387	CCDS31930.1, CCDS31931.1, CCDS31932.1, CCDS31933.1, CCDS31934.1, CCDS31935.1, CCDS61286.1, CCDS73548.1	12q24.33	2013-03-22			ENSG00000187848	ENSG00000187848		"Purinergic receptors", "Ligand-gated ion channels / Purinergic receptors, ionotropic"	15459	protein-coding gene	gene with protein product		600844	"deafness, autosomal dominant 41"	DFNA41		10570044, 7523952, 23345450	Standard	XM_005266154		Approved	P2X2	uc001ukk.1	Q9UBL9	OTTHUMG00000168018	ENST00000389110.3:c.795T>C	12.37:g.133197607T>C						P2RX2_ENST00000351222.4_Silent_p.I173I|P2RX2_ENST00000449132.2_Silent_p.I231I|P2RX2_ENST00000352418.4_Silent_p.I193I|P2RX2_ENST00000343948.4_Silent_p.I265I|P2RX2_ENST00000348800.5_Silent_p.I265I|P2RX2_ENST00000350048.5_Silent_p.I241I	p.I265I	NM_170682.2|NM_170683.2|NM_174873.1	NP_733782.1|NP_733783.1|NP_777362.1	Q9UBL9	P2RX2_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;2.32e-08)|Epithelial(86;8.62e-08)|all cancers(50;4.5e-06)	8	832	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0767)	265					A6NGB4|A6NH93|A6NHC2|A6NHU3|A6NIG9|Q6V9R6|Q9NR37|Q9NR38|Q9UHD5|Q9UHD6|Q9UHD7|Q9Y637|Q9Y638	Silent	SNP	ENST00000389110.3	37	c.795T>C	CCDS31931.1																																																																																				0.637	P2RX2-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397542.1			5	84	0	0	0	1	0	5	84					C	133197607	T	C	133197607	2	2	29	1	0	0	0	0	0	0	0	1	11340	1742	61	4		4	P2RX2	12	133197607	Silent	SNP	T	TCGA-CH-5763-01A-11D-1576-08	16750946	133197607	654288	20	1458											
MTHFD1	4522	broad.mit.edu	37	chr14	64909059	64909059	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ccggtattccggcctctgccCccacgtggtggtgcttgttg	2	12	13	14	3	1	0	0	0	1	0	2	0	2	0	5	4	2	3	5	4	1	4			TCGA-CH-5763-01A-11D-1576-08	TCGA-CH-5763-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	581be6cf-9778-49c3-9c77-1316eaa78929	b3c65fbf-e781-4a0c-b76d-8a6c4535ccef	g.chr14:64909059C>G	ENST00000545908.1	+	21	2472	c.2243C>G	c.(2242-2244)cCc>cGc	p.P748R	MTHFD1_ENST00000216605.8_Missense_Mutation_p.P692R|CTD-2555O16.4_ENST00000609125.1_RNA|CTD-2555O16.2_ENST00000556640.1_RNA			P11586	C1TC_HUMAN	methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1, methenyltetrahydrofolate cyclohydrolase, formyltetrahydrofolate synthetase	692	Formyltetrahydrofolate synthetase.				folic acid metabolic process (GO:0046655)|folic acid-containing compound biosynthetic process (GO:0009396)|histidine biosynthetic process (GO:0000105)|methionine biosynthetic process (GO:0009086)|one-carbon metabolic process (GO:0006730)|purine nucleotide biosynthetic process (GO:0006164)|small molecule metabolic process (GO:0044281)|tetrahydrofolate interconversion (GO:0035999)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|formate-tetrahydrofolate ligase activity (GO:0004329)|methenyltetrahydrofolate cyclohydrolase activity (GO:0004477)|methylenetetrahydrofolate dehydrogenase (NADP+) activity (GO:0004488)|methylenetetrahydrofolate dehydrogenase [NAD(P)+] activity (GO:0004486)	p.P692R(1)		endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	30				OV - Ovarian serous cystadenocarcinoma(108;8.7e-12)|all cancers(60;3.29e-11)|BRCA - Breast invasive adenocarcinoma(234;0.0488)	Tetrahydrofolic acid(DB00116)	GGCCTCTGCCCCCACGTGGTG	0.527																																					Colon(18;220 581 13419 18191 31512)|GBM(126;343 1658 28700 44425 52519)	ENST00000555709.1																			1	Substitution - Missense(1)	p.P692R(1)	prostate(1)	endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	30						c.(2074-2076)cCc>cGc		methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1, methenyltetrahydrofolate cyclohydrolase, formyltetrahydrofolate synthetase	NADH(DB00157)|Tetrahydrofolic acid(DB00116)						65	66	66					14																	64909059		2203	4300	6503	SO:0001583	missense	4522				folic acid metabolic process|folic acid-containing compound biosynthetic process|histidine biosynthetic process|methionine biosynthetic process|one-carbon metabolic process|purine nucleotide biosynthetic process	cytosol|mitochondrion	ATP binding|formate-tetrahydrofolate ligase activity|methenyltetrahydrofolate cyclohydrolase activity|methylenetetrahydrofolate dehydrogenase|methylenetetrahydrofolate dehydrogenase (NADP+) activity|protein binding	g.chr14:64909059C>G	J04031	CCDS9763.1	14q24	2004-12-13			ENSG00000100714	ENSG00000100714	1.5.1.15, 3.5.4.-		7432	protein-coding gene	gene with protein product		172460		MTHFC, MTHFD		3053686, 2786332	Standard	NM_005956		Approved		uc001xhb.3	P11586	OTTHUMG00000141309	ENST00000545908.1:c.2243C>G	14.37:g.64909059C>G	ENSP00000438588:p.Pro748Arg					MTHFD1_ENST00000545908.1_Missense_Mutation_p.P748R|CTD-2555O16.2_ENST00000556640.1_RNA|MTHFD1_ENST00000216605.7_Missense_Mutation_p.P748R	p.P692R	NM_005956.3	NP_005947.3	P11586	C1TC_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;8.7e-12)|all cancers(60;3.29e-11)|BRCA - Breast invasive adenocarcinoma(234;0.0488)	21	2462	+			692			Formyltetrahydrofolate synthetase.		B2R5Y2|G3V2B8|Q86VC9|Q9BVP5	Missense_Mutation	SNP	ENST00000545908.1	37	c.2075C>G		.	.	.	.	.	.	.	.	.	.	C	28.2	4.903607	0.92035	.	.	ENSG00000100714	ENST00000545908;ENST00000555709;ENST00000216605	T;T;T	0.55588	0.51;0.51;0.51	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	D	0.86138	0.5861	H	0.99545	4.62	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.91334	0.5092	10	0.87932	D	0	-14.8154	20.5827	0.99408	0.0:1.0:0.0:0.0	.	748;692	F5H2F4;G3V2B8	.;.	R	748;692;748	ENSP00000438588:P748R;ENSP00000450560:P692R;ENSP00000216605:P748R	ENSP00000216605:P692R	P	+	2	0	MTHFD1	63978812	1.000000	0.71417	1.000000	0.80357	0.772000	0.43724	7.818000	0.86416	2.941000	0.99782	0.655000	0.94253	CCC		0.527	MTHFD1-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000412167.1			5	154	0	0	0	1	0	5	154					G	64909059	C	G	64909059	3	3	29	1	0	0	0	0	1	0	0	0	9927	623	22	5	2157	5	MTHFD1	14	64909059	Missense_Mutation	SNP	C	TCGA-CH-5763-01A-11D-1576-08		64909059	42440481	21	1459											
AK7	122481	broad.mit.edu	37	chr14	96909069	96909069	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgcttttcttcctttcagatGgcttggttgggcgagattcc	4	17	11	9	1	2	2	1	0	1	2	4	3	4	2	2	3	1	3	2	3	0	7			TCGA-CH-5763-01A-11D-1576-08	TCGA-CH-5763-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	581be6cf-9778-49c3-9c77-1316eaa78929	b3c65fbf-e781-4a0c-b76d-8a6c4535ccef	g.chr14:96909069G>A	ENST00000267584.4	+	7	737	c.693G>A	c.(691-693)atG>atA	p.M231I		NM_152327.3	NP_689540.2	Q96M32	KAD7_HUMAN	adenylate kinase 7	231					axoneme assembly (GO:0035082)|brain development (GO:0007420)|epithelial cilium movement (GO:0003351)|inflammatory response to antigenic stimulus (GO:0002437)|nucleoside diphosphate phosphorylation (GO:0006165)|nucleoside triphosphate biosynthetic process (GO:0009142)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	adenylate kinase activity (GO:0004017)|ATP binding (GO:0005524)|cytidylate kinase activity (GO:0004127)|nucleoside diphosphate kinase activity (GO:0004550)	p.M231I(2)		breast(2)|cervix(2)|endometrium(3)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	31		all_cancers(154;0.0482)|all_epithelial(191;0.128)|Melanoma(154;0.155)		Epithelial(152;0.134)|COAD - Colon adenocarcinoma(157;0.228)		CCTTTCAGATGGCTTGGTTGG	0.443																																						ENST00000267584.4																			2	Substitution - Missense(2)	p.M231I(2)	prostate(2)	breast(2)|cervix(2)|endometrium(3)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	31						c.(691-693)atG>atA		adenylate kinase 7							291	259	270					14																	96909069		2203	4300	6503	SO:0001583	missense	122481				cell projection organization	cytosol	adenylate kinase activity|ATP binding|cytidylate kinase activity	g.chr14:96909069G>A	AK057426	CCDS9945.1	14q32.31	2012-08-15			ENSG00000140057	ENSG00000140057		"Adenylate kinases"	20091	protein-coding gene	gene with protein product		615364					Standard	NM_152327		Approved	FLJ32864	uc001yfn.3	Q96M32	OTTHUMG00000171421	ENST00000267584.4:c.693G>A	14.37:g.96909069G>A	ENSP00000267584:p.Met231Ile						p.M231I	NM_152327.3	NP_689540.2	Q96M32	KAD7_HUMAN		Epithelial(152;0.134)|COAD - Colon adenocarcinoma(157;0.228)	7	737	+		all_cancers(154;0.0482)|all_epithelial(191;0.128)|Melanoma(154;0.155)	231					Q8IYP6	Missense_Mutation	SNP	ENST00000267584.4	37	c.693G>A	CCDS9945.1	.	.	.	.	.	.	.	.	.	.	G	11.16	1.556450	0.27827	.	.	ENSG00000140057	ENST00000267584	T	0.41065	1.01	4.77	-9.53	0.00575	NAD(P)-binding domain (1);	1.208460	0.05553	N	0.567814	T	0.19087	0.0458	N	0.20685	0.6	0.58432	D	0.999994	B	0.02656	0.0	B	0.04013	0.001	T	0.06144	-1.0843	10	0.34782	T	0.22	-0.1402	1.3867	0.02242	0.4123:0.2675:0.1404:0.1798	.	231	Q96M32	KAD7_HUMAN	I	231	ENSP00000267584:M231I	ENSP00000267584:M231I	M	+	3	0	AK7	95978822	0.000000	0.05858	0.000000	0.03702	0.703000	0.40648	-2.759000	0.00787	-2.445000	0.00547	0.655000	0.94253	ATG		0.443	AK7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413340.1			13	402	0	0	0	1	0	13	402					A	96909069	G	A	96909069	3	1	29	1	0	0	0	0	1	0	0	0	444	1348	47	3	719	3	AK7	14	96909069	Missense_Mutation	SNP	G	TCGA-CH-5763-01A-11D-1576-08	32000010	96909069	10440471	22	1460											
GAS8	2622	broad.mit.edu	37	chr16	90097783	90097783	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaactacttccagctggagcGggacaagatccacaccttct	12	8	8	13	1	1	1	0	0	1	1	3	3	3	3	3	2	4	1	3	2	3	3			TCGA-CH-5763-01A-11D-1576-08	TCGA-CH-5763-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	581be6cf-9778-49c3-9c77-1316eaa78929	b3c65fbf-e781-4a0c-b76d-8a6c4535ccef	g.chr16:90097783G>T	ENST00000268699.4	+	3	289	c.167G>T	c.(166-168)cGg>cTg	p.R56L	C16orf3_ENST00000408886.2_5'Flank|GAS8_ENST00000536122.1_Missense_Mutation_p.R31L|GAS8_ENST00000540721.1_3'UTR	NM_001481.2	NP_001472.1	O95995	GAS8_HUMAN	growth arrest-specific 8	56	Regulates microtubule-binding. {ECO:0000250}.				cellular protein localization (GO:0034613)|negative regulation of cell proliferation (GO:0008285)|sperm motility (GO:0030317)	Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|motile cilium (GO:0031514)				endometrium(3)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	14		all_cancers(9;4.44e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.00118)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.029)		CAGCTGGAGCGGGACAAGATC	0.617																																						ENST00000268699.4																			0				endometrium(3)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	14						c.(166-168)cGg>cTg		growth arrest-specific 8							106	99	101					16																	90097783		2198	4300	6498	SO:0001583	missense	2622				negative regulation of cell proliferation|sperm motility	cilium|Golgi apparatus|microtubule|microtubule basal body|microtubule-based flagellum	protein binding	g.chr16:90097783G>T	AF050079	CCDS10992.1, CCDS67101.1, CCDS73932.1	16q24.3	2014-07-18	2003-01-16	2003-01-17	ENSG00000141013	ENSG00000141013			4166	protein-coding gene	gene with protein product		605178	"growth arrest-specific 11"	GAS11		9790751	Standard	NM_001481		Approved		uc002fqi.1	O95995	OTTHUMG00000138988	ENST00000268699.4:c.167G>T	16.37:g.90097783G>T	ENSP00000268699:p.Arg56Leu					GAS8_ENST00000540721.1_3'UTR|GAS8_ENST00000536122.1_Missense_Mutation_p.R31L	p.R56L	NM_001481.2	NP_001472.1	O95995	GAS8_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.029)	3	289	+		all_cancers(9;4.44e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.00118)|all_hematologic(23;0.0194)	56			Regulates microtubule-binding (By similarity).		B2RCT1|B7Z4U1|G3V1L5|Q2M234	Missense_Mutation	SNP	ENST00000268699.4	37	c.167G>T	CCDS10992.1	.	.	.	.	.	.	.	.	.	.	G	36	5.709180	0.96821	.	.	ENSG00000141013	ENST00000536122;ENST00000268699;ENST00000540721;ENST00000537797	T;T	0.56611	0.49;0.45	5.88	5.88	0.94601	.	0.000000	0.85682	D	0.000000	T	0.81302	0.4794	M	0.93375	3.41	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	D	0.85001	0.0900	9	.	.	.	-42.4178	20.2366	0.98359	0.0:0.0:1.0:0.0	.	27;56;56	B7Z1X3;B7Z9B0;O95995	.;.;GAS8_HUMAN	L	31;56;27;56	ENSP00000440977:R31L;ENSP00000268699:R56L	.	R	+	2	0	GAS8	88625284	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.712000	0.84684	2.792000	0.96026	0.557000	0.71058	CGG		0.617	GAS8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000272877.2			3	61	1	0	1	1	1	3	61					T	90097783	G	T	90097783	3	4	29	1	0	0	0	0	1	0	0	0	6251	1116	39	5	177	5	GAS8	16	90097783	Missense_Mutation	SNP	G	TCGA-CH-5763-01A-11D-1576-08		90097783	256970	23	1461											
MED1	5469	broad.mit.edu	37	chr17	37566389	37566390	+	Frame_Shift_Del	DEL	TA	TA	-																															tgctttggtttctcaggtggTaatcttgatgacttcttttt																										TCGA-CH-5763-01A-11D-1576-08	TCGA-CH-5763-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	581be6cf-9778-49c3-9c77-1316eaa78929	b3c65fbf-e781-4a0c-b76d-8a6c4535ccef	g.chr17:37566389_37566390delTA	ENST00000300651.6	-	17	2307_2308	c.2084_2085delTA	c.(2083-2085)ttafs	p.L695fs	MED1_ENST00000394287.3_Intron	NM_004774.3	NP_004765.2	O95243	MBD4_HUMAN	mediator complex subunit 1	0					base-excision repair (GO:0006284)|base-excision repair, AP site formation (GO:0006285)|depyrimidination (GO:0045008)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|mitotic G2 DNA damage checkpoint (GO:0007095)|response to radiation (GO:0009314)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	endodeoxyribonuclease activity (GO:0004520)|pyrimidine-specific mismatch base pair DNA N-glycosylase activity (GO:0008263)|satellite DNA binding (GO:0003696)			NS(1)|breast(2)|cervix(3)|kidney(3)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(7)|urinary_tract(1)	59		Ovarian(249;1.78e-06)|Lung SC(565;0.0262)	Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146)	UCEC - Uterine corpus endometrioid carcinoma (308;6.64e-05)|BRCA - Breast invasive adenocarcinoma(366;0.00136)|READ - Rectum adenocarcinoma(1115;0.0649)		TCTCAGGTGGTAATCTTGATGA	0.46										HNSCC(31;0.082)																											Pancreas(21;279 768 2492 4877 24026)	ENST00000300651.6																			0				NS(1)|breast(2)|cervix(3)|kidney(3)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(7)|urinary_tract(1)	59						c.(2083-2085)tfs		mediator complex subunit 1																																				SO:0001589	frameshift_variant	5469				androgen biosynthetic process|androgen receptor signaling pathway|cellular lipid metabolic process|fat cell differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription initiation from RNA polymerase II promoter	mediator complex	DNA binding|estrogen receptor binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|peroxisome proliferator activated receptor binding|receptor activity|retinoic acid receptor binding|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	g.chr17:37566389_37566390delTA	L40366	CCDS11336.1	17q12	2007-07-30	2007-07-30	2007-07-30	ENSG00000125686	ENSG00000125686			9234	protein-coding gene	gene with protein product		604311	"PPAR binding protein"	TRIP2, PPARGBP, PPARBP		9325263, 10485914	Standard	NM_004774		Approved	PBP, TRAP220, RB18A, DRIP230, CRSP200, CRSP1	uc002hrv.4	Q15648	OTTHUMG00000133216	ENST00000300651.6:c.2084_2085delTA	17.37:g.37566389_37566390delTA	ENSP00000300651:p.Leu695fs	HNSCC(31;0.082)				MED1_ENST00000394287.3_Intron	p.L695fs	NM_004774.3	NP_004765.2	Q15648	MED1_HUMAN	Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146)	UCEC - Uterine corpus endometrioid carcinoma (308;6.64e-05)|BRCA - Breast invasive adenocarcinoma(366;0.00136)|READ - Rectum adenocarcinoma(1115;0.0649)	17	2307_2308	-		Ovarian(249;1.78e-06)|Lung SC(565;0.0262)	695			Interaction with ESR1.|Interaction with GATA1 (By similarity).|Interaction with PPARGC1A and THRA.|Interaction with VDR.		B4DZN2|D3DNC3|D3DNC4|E9PEE4|Q2MD36|Q7Z4T3|Q96F09	Frame_Shift_Del	DEL	ENST00000300651.6	37	c.2084_2085delTA	CCDS11336.1																																																																																				0.46	MED1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256943.3	NM_004774		15	410						15	410	---	---	---	---	-	37566390	TA	-	37566389	7	5	29	1	0	1	0	1	0	0	0	0	9425	1635	57	0	2664	0	MED1	17	37566389	Frame_Shift_Del	DEL	TA	TCGA-CH-5763-01A-11D-1576-08		37566389	43628821	24	1462											
UBTF	7343	broad.mit.edu	37	chr17	42293143	42293143	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccatgaagaagcggaaataaGgggtcaggggcttctttggg	11	8	16	6	1	2	2	1	1	1	1	2	3	2	3	1	6	1	1	1	6	4	3			TCGA-CH-5763-01A-11D-1576-08	TCGA-CH-5763-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	581be6cf-9778-49c3-9c77-1316eaa78929	b3c65fbf-e781-4a0c-b76d-8a6c4535ccef	g.chr17:42293143G>A	ENST00000302904.4	-	5	845	c.353C>T	c.(352-354)cCt>cTt	p.P118L	UBTF_ENST00000436088.1_Missense_Mutation_p.P118L|UBTF_ENST00000343638.5_Missense_Mutation_p.P118L|UBTF_ENST00000533177.1_Missense_Mutation_p.P118L|UBTF_ENST00000393606.3_Missense_Mutation_p.P118L|UBTF_ENST00000527034.1_Missense_Mutation_p.P118L|CTB-175E5.7_ENST00000586560.1_RNA|UBTF_ENST00000526094.1_Missense_Mutation_p.P118L|UBTF_ENST00000537550.1_5'UTR|UBTF_ENST00000529383.1_Missense_Mutation_p.P118L			P17480	UBF1_HUMAN	upstream binding transcription factor, RNA polymerase I	118					chromatin silencing at rDNA (GO:0000183)|gene expression (GO:0010467)|positive regulation of transcription from RNA polymerase I promoter (GO:0045943)|regulation of transcription from RNA polymerase I promoter (GO:0006356)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)	p.P118L(1)		breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(10)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Breast(137;0.00765)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.114)		GCGGAAATAAGGGGTCAGGGG	0.488																																						ENST00000302904.4																			1	Substitution - Missense(1)	p.P118L(1)	prostate(1)	breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(10)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(352-354)cCt>cTt		upstream binding transcription factor, RNA polymerase I							92	98	96					17																	42293143		2203	4300	6503	SO:0001583	missense	7343				positive regulation of transcription from RNA polymerase I promoter|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	nucleolus|nucleoplasm	DNA binding|protein binding	g.chr17:42293143G>A	BC042297	CCDS11480.1, CCDS42346.1	17q21.31	2014-03-25			ENSG00000108312	ENSG00000108312			12511	protein-coding gene	gene with protein product		600673				9126496	Standard	NM_001076683		Approved	UBF, NOR-90, UBF1, UBF2	uc010czs.3	P17480	OTTHUMG00000167585	ENST00000302904.4:c.353C>T	17.37:g.42293143G>A	ENSP00000302640:p.Pro118Leu					UBTF_ENST00000393606.3_Missense_Mutation_p.P118L|CTB-175E5.7_ENST00000586560.1_RNA|UBTF_ENST00000537550.1_5'UTR|UBTF_ENST00000533177.1_Missense_Mutation_p.P118L|UBTF_ENST00000343638.5_Missense_Mutation_p.P118L|UBTF_ENST00000529383.1_Missense_Mutation_p.P118L|UBTF_ENST00000527034.1_Missense_Mutation_p.P118L|UBTF_ENST00000526094.1_Missense_Mutation_p.P118L|UBTF_ENST00000436088.1_Missense_Mutation_p.P118L	p.P118L			P17480	UBF1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.114)	5	845	-		Breast(137;0.00765)|Prostate(33;0.0181)	118					A8K6R8	Missense_Mutation	SNP	ENST00000302904.4	37	c.353C>T	CCDS11480.1	.	.	.	.	.	.	.	.	.	.	g	29.5	5.008009	0.93287	.	.	ENSG00000108312	ENST00000343638;ENST00000302904;ENST00000527034;ENST00000533177;ENST00000436088;ENST00000393606;ENST00000526094;ENST00000529383;ENST00000530828	D;D;D;D;D;D;D;D;D	0.97811	-4.55;-4.55;-4.55;-4.55;-4.55;-4.55;-4.55;-4.55;-4.55	4.4	4.4	0.53042	High mobility group, superfamily (1);High mobility group, HMG1/HMG2 (4);	0.060308	0.64402	D	0.000002	D	0.98836	0.9607	M	0.88241	2.94	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.97110	1.0;0.988;1.0	D	0.99659	1.0993	10	0.62326	D	0.03	-6.5804	16.9462	0.86230	0.0:0.0:1.0:0.0	.	118;118;118	E9PKP7;P17480-2;P17480	.;.;UBF1_HUMAN	L	118;118;118;118;118;118;118;118;90	ENSP00000345297:P118L;ENSP00000302640:P118L;ENSP00000431539:P118L;ENSP00000437180:P118L;ENSP00000390669:P118L;ENSP00000377231:P118L;ENSP00000432925:P118L;ENSP00000435708:P118L;ENSP00000433046:P90L	ENSP00000302640:P118L	P	-	2	0	UBTF	39648669	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.730000	0.98797	2.147000	0.66899	0.563000	0.77884	CCT		0.488	UBTF-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395205.1	NM_014233		7	162	0	0	0	1	0	7	162					A	42293143	G	A	42293143	3	1	29	1	0	0	0	0	1	0	0	0	16906	1000	35	3	2009	3	UBTF	17	42293143	Missense_Mutation	SNP	G	TCGA-CH-5763-01A-11D-1576-08	4726754	42293143	38902067	25	1463											
SAMD14	201191	broad.mit.edu	37	chr17	48193048	48193048	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aaccaggaaaaaggcaggaaCggggagccccctgacctgcc	13	2	13	13	1	0	1	0	1	0	0	0	4	0	4	5	5	4	1	5	5	4	0			TCGA-CH-5763-01A-11D-1576-08	TCGA-CH-5763-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	581be6cf-9778-49c3-9c77-1316eaa78929	b3c65fbf-e781-4a0c-b76d-8a6c4535ccef	g.chr17:48193048C>T	ENST00000330175.4	-	7	1019	c.702G>A	c.(700-702)ccG>ccA	p.P234P	SAMD14_ENST00000503734.1_5'Flank|SAMD14_ENST00000503131.1_Silent_p.P234P	NM_001257359.1	NP_001244288.1	Q8IZD0	SAM14_HUMAN	sterile alpha motif domain containing 14	234										breast(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(3)|prostate(1)|urinary_tract(1)	15						AAGGCAGGAACGGGGAGCCCC	0.642																																						ENST00000330175.4																			0				breast(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(3)|prostate(1)|urinary_tract(1)	15						c.(700-702)ccG>ccA		sterile alpha motif domain containing 14							84	92	89					17																	48193048		2203	4300	6503	SO:0001819	synonymous_variant	201191							g.chr17:48193048C>T		CCDS11560.1, CCDS58562.1	17q21.33	2013-01-10				ENSG00000167100		"Sterile alpha motif (SAM) domain containing"	27312	protein-coding gene	gene with protein product						8619474	Standard	NM_174920		Approved	FLJ36890	uc002iqg.4	Q8IZD0		ENST00000330175.4:c.702G>A	17.37:g.48193048C>T						SAMD14_ENST00000503131.1_Silent_p.P234P	p.P234P	NM_001257359.1	NP_001244288.1	Q8IZD0	SAM14_HUMAN			7	1019	-			234					A5D8V1|Q8N2X0	Silent	SNP	ENST00000330175.4	37	c.702G>A	CCDS58562.1																																																																																				0.642	SAMD14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366661.1	NM_174920		7	191	0	0	0	1	0	7	191					T	48193048	C	T	48193048	2	4	29	1	0	0	0	0	0	0	0	1	13819	523	19	1		1	SAMD14	17	48193048	Silent	SNP	C	TCGA-CH-5763-01A-11D-1576-08	5899905	48193048	33002162	26	1464											
SGSH	6448	broad.mit.edu	37	chr17	78188012	78188012	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ggcctggggggtccagtctgGgatacgacccatgccgctct	5	8	15	13	2	2	0	0	0	2	0	3	2	3	1	4	5	2	1	4	5	1	1			TCGA-CH-5763-01A-11D-1576-08	TCGA-CH-5763-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	581be6cf-9778-49c3-9c77-1316eaa78929	b3c65fbf-e781-4a0c-b76d-8a6c4535ccef	g.chr17:78188012G>T	ENST00000326317.6	-	5	708	c.622C>A	c.(622-624)Cca>Aca	p.P208T	SGSH_ENST00000570923.1_Silent_p.S219S|SGSH_ENST00000572208.1_5'UTR|SGSH_ENST00000534910.1_Missense_Mutation_p.P5T	NM_000199.3	NP_000190.1	P51688	SPHM_HUMAN	N-sulfoglucosamine sulfohydrolase	208					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|proteoglycan metabolic process (GO:0006029)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)	catalytic activity (GO:0003824)|metal ion binding (GO:0046872)|N-sulfoglucosamine sulfohydrolase activity (GO:0016250)|sulfuric ester hydrolase activity (GO:0008484)	p.P208T(1)		central_nervous_system(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	10	all_neural(118;0.0952)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.0908)			GTCCAGTCTGGGATACGACCC	0.667																																						ENST00000326317.6																			1	Substitution - Missense(1)	p.P208T(1)	prostate(1)	central_nervous_system(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	10						c.(622-624)Cca>Aca		N-sulfoglucosamine sulfohydrolase							38	34	35					17																	78188012		2201	4300	6501	SO:0001583	missense	6448				proteoglycan metabolic process	lysosome	metal ion binding|N-sulfoglucosamine sulfohydrolase activity|sulfuric ester hydrolase activity	g.chr17:78188012G>T	BC047318	CCDS11770.1	17q25.3	2011-11-08	2008-07-31			ENSG00000181523	3.10.1.1		10818	protein-coding gene	gene with protein product	"sulfamidase", "mucopolysaccharidosis type IIIA"	605270				7493035	Standard	NM_000199		Approved	HSS, MPS3A, SFMD	uc002jxz.4	P51688		ENST00000326317.6:c.622C>A	17.37:g.78188012G>T	ENSP00000314606:p.Pro208Thr					SGSH_ENST00000570923.1_Silent_p.S219S|SGSH_ENST00000534910.1_Missense_Mutation_p.P5T|SGSH_ENST00000572208.1_5'UTR	p.P208T	NM_000199.3	NP_000190.1	P51688	SPHM_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.0908)		5	708	-	all_neural(118;0.0952)		208					A8K5E2	Missense_Mutation	SNP	ENST00000326317.6	37	c.622C>A	CCDS11770.1	.	.	.	.	.	.	.	.	.	.	g	26.9	4.783483	0.90282	.	.	ENSG00000181523	ENST00000326317;ENST00000534910	D;D	0.98762	-5.12;-3.93	4.24	4.24	0.50183	Alkaline phosphatase-like, alpha/beta/alpha (1);Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.000000	0.85682	D	0.000000	D	0.98950	0.9643	M	0.86028	2.79	0.80722	D	1	P;D	0.57899	0.88;0.981	P;P	0.59546	0.859;0.796	D	0.99342	1.0912	10	0.59425	D	0.04	-10.4945	16.4492	0.83974	0.0:0.0:1.0:0.0	.	208;211	P51688;Q59EB1	SPHM_HUMAN;.	T	208;5	ENSP00000314606:P208T;ENSP00000437778:P5T	ENSP00000314606:P208T	P	-	1	0	SGSH	75802607	1.000000	0.71417	0.999000	0.59377	0.886000	0.51366	7.614000	0.82996	2.195000	0.70347	0.552000	0.68991	CCA		0.667	SGSH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437695.1	NM_000199		4	31	1	0	0.0215528	1	0.0226041	4	31					T	78188012	G	T	78188012	3	4	29	1	0	0	0	0	1	0	0	0	14221	1232	43	5	902	5	SGSH	17	78188012	Missense_Mutation	SNP	G	TCGA-CH-5763-01A-11D-1576-08	29994964	78188012	3007198	27	1465											
ZNF441	126068	broad.mit.edu	37	chr19	11892189	11892189	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aagctttgattctcccagttCatttcgaagacatgaaagaa	14	12	7	8	1	2	4	1	2	1	2	4	5	2	4	1	0	1	2	1	0	4	4			TCGA-CH-5763-01A-11D-1576-08	TCGA-CH-5763-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	581be6cf-9778-49c3-9c77-1316eaa78929	b3c65fbf-e781-4a0c-b76d-8a6c4535ccef	g.chr19:11892189C>T	ENST00000357901.4	+	4	1652	c.1550C>T	c.(1549-1551)tCa>tTa	p.S517L	ZNF441_ENST00000454339.2_Missense_Mutation_p.S450L	NM_152355.2	NP_689568.2	Q8N8Z8	ZN441_HUMAN	zinc finger protein 441	517					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.S517L(1)|p.S450L(1)		central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						TCTCCCAGTTCATTTCGAAGA	0.398																																						ENST00000357901.4																			2	Substitution - Missense(2)	p.S517L(1)|p.S450L(1)	prostate(2)	central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(1549-1551)tCa>tTa		zinc finger protein 441							72	73	73					19																	11892189		2203	4299	6502	SO:0001583	missense	126068				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:11892189C>T	AK095956	CCDS12266.2	19p13.13	2013-01-08			ENSG00000197044	ENSG00000197044		"Zinc fingers, C2H2-type", "-"	20875	protein-coding gene	gene with protein product							Standard	NM_152355		Approved	FLJ38637	uc010dyj.3	Q8N8Z8	OTTHUMG00000154449	ENST00000357901.4:c.1550C>T	19.37:g.11892189C>T	ENSP00000350576:p.Ser517Leu					ZNF441_ENST00000454339.2_Missense_Mutation_p.S450L	p.S517L	NM_152355.2	NP_689568.2	Q8N8Z8	ZN441_HUMAN			4	1652	+			517						Missense_Mutation	SNP	ENST00000357901.4	37	c.1550C>T	CCDS12266.2	.	.	.	.	.	.	.	.	.	.	-	14.04	2.418015	0.42918	.	.	ENSG00000197044	ENST00000409902;ENST00000357901;ENST00000454339	T;T	0.15718	2.4;2.4	1.22	-1.81	0.07882	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.11196	0.0273	L	0.28776	0.89	0.09310	N	1	P	0.47841	0.901	B	0.41088	0.347	T	0.24512	-1.0158	9	0.36615	T	0.2	.	8.2743	0.31864	0.7554:0.2446:0.0:0.0	.	517	Q8N8Z8	ZN441_HUMAN	L	473;517;450	ENSP00000350576:S517L;ENSP00000403738:S450L	ENSP00000350576:S517L	S	+	2	0	ZNF441	11753189	0.000000	0.05858	0.000000	0.03702	0.971000	0.66376	-0.998000	0.03701	-0.425000	0.07371	0.305000	0.20034	TCA		0.398	ZNF441-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335273.3	NM_152355		8	160	0	0	0	1	0	8	160					T	11892189	C	T	11892189	3	4	29	1	0	0	0	0	1	0	0	0	17911	838	29	3	1564	3	ZNF441	19	11892189	Missense_Mutation	SNP	C	TCGA-CH-5763-01A-11D-1576-08		11892189	47236794	28	1466											
C22orf29	79680	broad.mit.edu	37	chr22	19838698	19838698	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgggctgtgttcagaaccCaggagaaagtggtggctctc	8	9	14	10	0	2	2	1	0	1	2	3	3	2	2	2	4	1	3	2	4	2	1			TCGA-CH-5763-01A-11D-1576-08	TCGA-CH-5763-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	581be6cf-9778-49c3-9c77-1316eaa78929	b3c65fbf-e781-4a0c-b76d-8a6c4535ccef	g.chr22:19838698C>G	ENST00000405640.1	-	2	1755	c.1087G>C	c.(1087-1089)Ggg>Cgg	p.G363R	GNB1L_ENST00000329517.6_Intron|C22orf29_ENST00000407472.1_Missense_Mutation_p.G363R|GNB1L_ENST00000405009.1_Intron|GNB1L_ENST00000460402.1_Intron|GNB1L_ENST00000403325.1_Intron|C22orf29_ENST00000484072.1_Intron|C22orf29_ENST00000328554.4_Missense_Mutation_p.G363R			Q7L3V2	BOP_HUMAN	chromosome 22 open reading frame 29	363					mitochondrial outer membrane permeabilization (GO:0097345)|regulation of mitochondrial membrane potential (GO:0051881)	mitochondrion (GO:0005739)		p.G363R(1)		NS(1)|large_intestine(1)|lung(3)|prostate(1)|urinary_tract(1)	7	Colorectal(54;0.0993)					GTTCAGAACCCAGGAGAAAGT	0.607																																						ENST00000405640.1																			1	Substitution - Missense(1)	p.G363R(1)	prostate(1)	NS(1)|large_intestine(1)|lung(3)|prostate(1)|urinary_tract(1)	7						c.(1087-1089)Ggg>Cgg		chromosome 22 open reading frame 29							24	27	26					22																	19838698		2202	4298	6500	SO:0001583	missense	79680							g.chr22:19838698C>G	BX640998	CCDS13769.1	22q11.21	2006-07-05			ENSG00000215012	ENSG00000215012			26112	protein-coding gene	gene with protein product						12477932	Standard	NM_024627		Approved	FLJ21125	uc002zqh.3	Q7L3V2	OTTHUMG00000030314	ENST00000405640.1:c.1087G>C	22.37:g.19838698C>G	ENSP00000384924:p.Gly363Arg					GNB1L_ENST00000460402.1_Intron|GNB1L_ENST00000405009.1_Intron|GNB1L_ENST00000329517.6_Intron|C22orf29_ENST00000328554.4_Missense_Mutation_p.G363R|C22orf29_ENST00000484072.1_Intron|C22orf29_ENST00000407472.1_Missense_Mutation_p.G363R|GNB1L_ENST00000403325.1_Intron	p.G363R			Q7L3V2	CV029_HUMAN			2	1755	-	Colorectal(54;0.0993)		363					A8K5E7|D3DX21|Q6MZM8|Q6N000|Q9H7A0	Missense_Mutation	SNP	ENST00000405640.1	37	c.1087G>C	CCDS13769.1	.	.	.	.	.	.	.	.	.	.	C	10.97	1.501455	0.26861	.	.	ENSG00000215012	ENST00000407472;ENST00000328554;ENST00000405640	T;T;T	0.27720	1.65;1.65;1.65	3.31	1.2	0.21068	.	.	.	.	.	T	0.15132	0.0365	N	0.08118	0	0.09310	N	1	B	0.19073	0.033	B	0.19946	0.027	T	0.23833	-1.0177	9	0.87932	D	0	.	5.7249	0.18008	0.0:0.7474:0.0:0.2526	.	363	Q7L3V2	CV029_HUMAN	R	363	ENSP00000386111:G363R;ENSP00000330596:G363R;ENSP00000384924:G363R	ENSP00000330596:G363R	G	-	1	0	C22orf29	18218698	0.510000	0.26171	0.008000	0.14137	0.083000	0.17756	0.687000	0.25407	0.419000	0.25927	0.561000	0.74099	GGG		0.607	C22orf29-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317290.2	NM_024627		2	8	0	0	0	1	0	2	8					G	19838698	C	G	19838698	3	3	29	1	0	0	0	0	1	0	0	0	2141	594	21	5	11	5	C22orf29	22	19838698	Missense_Mutation	SNP	C	TCGA-CH-5763-01A-11D-1576-08		19838698	31465868	29	1467											
PKDREJ	10343	broad.mit.edu	37	chr22	46657040	46657040	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggagattgactctgtcatctCggagaggtaattcagttttc	9	14	11	7	1	4	3	2	1	2	2	6	5	4	3	0	3	0	2	0	3	1	5			TCGA-CH-5763-01A-11D-1576-08	TCGA-CH-5763-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	581be6cf-9778-49c3-9c77-1316eaa78929	b3c65fbf-e781-4a0c-b76d-8a6c4535ccef	g.chr22:46657040C>T	ENST00000253255.5	-	1	2179	c.2180G>A	c.(2179-2181)cGa>cAa	p.R727Q		NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN	polycystin (PKD) family receptor for egg jelly	727	REJ. {ECO:0000255|PROSITE- ProRule:PRU00511}.				acrosome reaction (GO:0007340)|calcium ion transmembrane transport (GO:0070588)|detection of mechanical stimulus (GO:0050982)|neuropeptide signaling pathway (GO:0007218)|regulation of acrosome reaction (GO:0060046)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)	p.R727Q(1)		NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		TCTGTCATCTCGGAGAGGTAA	0.388																																						ENST00000253255.5																			1	Substitution - Missense(1)	p.R727Q(1)	prostate(1)	NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73						c.(2179-2181)cGa>cAa		polycystin (PKD) family receptor for egg jelly							87	88	87					22																	46657040		2203	4300	6503	SO:0001583	missense	10343				acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity	g.chr22:46657040C>T	AF116458	CCDS14073.1	22q13.31	2013-07-31	2013-07-31		ENSG00000130943	ENSG00000130943			9015	protein-coding gene	gene with protein product		604670	"polycystic kidney disease (polycystin) and REJ (sperm receptor for egg jelly, sea urchin homolog)-like", "polycystic kidney disease (polycystin) and REJ (sperm receptor for egg jelly homolog, sea urchin)-like", "polycystic kidney disease (polycystin) and REJ homolog (sperm receptor for egg jelly homolog, sea urchin)"			9949214, 10591208	Standard	NM_006071		Approved		uc003bhh.3	Q9NTG1	OTTHUMG00000150493	ENST00000253255.5:c.2180G>A	22.37:g.46657040C>T	ENSP00000253255:p.Arg727Gln						p.R727Q	NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)	1	2179	-		Ovarian(80;0.00965)|all_neural(38;0.0416)	727			REJ.		B1AJY3|O95850	Missense_Mutation	SNP	ENST00000253255.5	37	c.2180G>A	CCDS14073.1	.	.	.	.	.	.	.	.	.	.	T	1.437	-0.568677	0.03910	.	.	ENSG00000130943	ENST00000253255	T	0.34072	1.38	5.23	0.694	0.18062	Egg jelly receptor, REJ-like (1);	0.633514	0.14655	N	0.306324	T	0.06554	0.0168	N	0.00392	-1.555	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.31641	-0.9936	10	0.02654	T	1	0.0098	1.592	0.02656	0.1312:0.2174:0.1248:0.5266	.	727	Q9NTG1	PKDRE_HUMAN	Q	727	ENSP00000253255:R727Q	ENSP00000253255:R727Q	R	-	2	0	PKDREJ	45035704	0.001000	0.12720	0.000000	0.03702	0.000000	0.00434	0.788000	0.26872	-0.139000	0.11414	-0.260000	0.10688	CGA		0.388	PKDREJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318466.1	NM_006071		6	209	0	0	0	1	0	6	209					T	46657040	C	T	46657040	3	4	29	1	0	0	0	0	1	0	0	0	11970	884	31	2	4585	2	PKDREJ	22	46657040	Missense_Mutation	SNP	C	TCGA-CH-5763-01A-11D-1576-08	26818342	46657040	4647526	30	1468											
MIIP	60672	broad.mit.edu	37	chr1	12090150	12090150	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	catccaccggcgaaagagctTtgacgcctctgacacactgg	10	7	10	14	3	1	3	0	2	1	1	2	4	2	3	3	2	1	1	3	2	1	1			TCGA-CH-5764-01A-21D-1576-08	TCGA-CH-5764-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df9acd7f-8875-4113-aba6-e89844ca6a43	fcc3c66f-f4b0-4cbc-add4-9f14713ef0eb	g.chr1:12090150T>G	ENST00000235332.4	+	8	1080	c.911T>G	c.(910-912)tTt>tGt	p.F304C	MIIP_ENST00000466860.1_3'UTR|MIIP_ENST00000436478.2_Intron	NM_021933.3	NP_068752.2	Q5JXC2	MIIP_HUMAN	migration and invasion inhibitory protein	304								p.F304C(1)		autonomic_ganglia(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(1)	15						CGAAAGAGCTTTGACGCCTCT	0.697																																						ENST00000235332.4																			1	Substitution - Missense(1)	p.F304C(1)	prostate(1)	autonomic_ganglia(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(1)	15						c.(910-912)tTt>tGt		migration and invasion inhibitory protein							43	51	48					1																	12090150		2203	4300	6503	SO:0001583	missense	60672							g.chr1:12090150T>G	AK022500	CCDS143.1	1p36.22	2009-07-09			ENSG00000116691	ENSG00000116691			25715	protein-coding gene	gene with protein product	"invasion inhibitory protein 45"	608772				15867349, 14617774	Standard	NM_021933		Approved	FLJ12438, IIp45	uc001ato.2	Q5JXC2	OTTHUMG00000002439	ENST00000235332.4:c.911T>G	1.37:g.12090150T>G	ENSP00000235332:p.Phe304Cys					MIIP_ENST00000466860.1_3'UTR|MIIP_ENST00000436478.2_Intron	p.F304C	NM_021933.3	NP_068752.2	Q5JXC2	MIIP_HUMAN			8	1080	+			304					C0KL22|Q96HU6|Q9H839|Q9HA00	Missense_Mutation	SNP	ENST00000235332.4	37	c.911T>G	CCDS143.1	.	.	.	.	.	.	.	.	.	.	T	12.48	1.951322	0.34471	.	.	ENSG00000116691	ENST00000235332	T	0.23950	1.88	4.99	2.62	0.31277	.	0.316577	0.28414	N	0.015435	T	0.41096	0.1144	M	0.78801	2.425	0.36009	D	0.837894	D	0.71674	0.998	P	0.61592	0.891	T	0.50127	-0.8864	10	0.87932	D	0	-5.9258	3.6397	0.08162	0.1932:0.1027:0.0:0.7041	.	304	Q5JXC2	MIIP_HUMAN	C	304	ENSP00000235332:F304C	ENSP00000235332:F304C	F	+	2	0	MIIP	12012737	0.988000	0.35896	0.860000	0.33809	0.093000	0.18481	2.205000	0.42770	0.709000	0.31976	0.254000	0.18369	TTT		0.697	MIIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006941.1	NM_021933		14	38	0	0	0	0.132662	0	14	38					G	12090150	T	G	12090150	3	3	30	1	0	0	0	0	1	0	0	0	9585	1841	64	5	937	5	MIIP	1	12090150	Missense_Mutation	SNP	T	TCGA-CH-5764-01A-21D-1576-08		12090150	237160471	1	1469											
SPEN	23013	broad.mit.edu	37	chr1	16257158	16257158	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	actcccgatttgcaaattttCgaaacaacaaagataaagaa	19	9	5	8	2	0	2	0	0	0	2	2	4	1	2	1	0	3	1	1	0	7	4			TCGA-CH-5764-01A-21D-1576-08	TCGA-CH-5764-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df9acd7f-8875-4113-aba6-e89844ca6a43	fcc3c66f-f4b0-4cbc-add4-9f14713ef0eb	g.chr1:16257158C>T	ENST00000375759.3	+	11	4627	c.4423C>T	c.(4423-4425)Cga>Tga	p.R1475*		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	1475					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription, DNA-templated (GO:0045893)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription corepressor activity (GO:0003714)	p.R1475*(1)		NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		TGCAAATTTTCGAAACAACAA	0.378																																						ENST00000375759.3																			1	Substitution - Nonsense(1)	p.R1475*(1)	prostate(1)	NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149						c.(4423-4425)Cga>Tga		spen family transcriptional repressor							59	64	62					1																	16257158		2197	4300	6497	SO:0001587	stop_gained	23013				interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding	g.chr1:16257158C>T		CCDS164.1	1p36	2013-10-17	2013-10-17		ENSG00000065526	ENSG00000065526		"RNA binding motif (RRM) containing"	17575	protein-coding gene	gene with protein product		613484	"SPEN homolog, transcriptional regulator (Drosophila)", "spen homolog, transcriptional regulator (Drosophila)"			10451362, 11331609	Standard	NM_015001		Approved	KIAA0929, MINT, SHARP, RBM15C	uc001axk.1	Q96T58	OTTHUMG00000009376	ENST00000375759.3:c.4423C>T	1.37:g.16257158C>T	ENSP00000364912:p.Arg1475*						p.R1475*	NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)	11	4627	+		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)	1475					Q9H9A8|Q9NWH5|Q9UQ01|Q9Y556	Nonsense_Mutation	SNP	ENST00000375759.3	37	c.4423C>T	CCDS164.1	.	.	.	.	.	.	.	.	.	.	C	43	10.042744	0.99324	.	.	ENSG00000065526	ENST00000375759	.	.	.	5.27	4.32	0.51571	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-8.5555	14.2233	0.65843	0.2362:0.7638:0.0:0.0	.	.	.	.	X	1475	.	ENSP00000364912:R1475X	R	+	1	2	SPEN	16129745	1.000000	0.71417	1.000000	0.80357	0.868000	0.49771	3.727000	0.54984	2.746000	0.94184	0.563000	0.77884	CGA		0.378	SPEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025993.1	NM_015001		12	172	0	0	0	0.080935	0	12	172					T	16257158	C	T	16257158	4	4	30	1	0	0	0	0	0	1	0	0	15037	876	31	2	4465	2	SPEN	1	16257158	Nonsense_Mutation	SNP	C	TCGA-CH-5764-01A-21D-1576-08	4167008	16257158	232993463	2	1470											
EPS15	2060	broad.mit.edu	37	chr1	51826841	51826841	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	acagctcattcacagtacttAcagcactgaagttggcaaaa	15	9	7	10	0	2	1	2	1	0	0	2	1	2	1	0	1	4	5	0	1	5	4			TCGA-CH-5764-01A-21D-1576-08	TCGA-CH-5764-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df9acd7f-8875-4113-aba6-e89844ca6a43	fcc3c66f-f4b0-4cbc-add4-9f14713ef0eb	g.chr1:51826841A>G	ENST00000371733.3	-	24	2641		c.e24+1		EPS15_ENST00000371730.2_Splice_Site|EPS15_ENST00000396122.4_Splice_Site	NM_001981.2	NP_001972.1	P42566	EPS15_HUMAN	epidermal growth factor receptor pathway substrate 15						cell proliferation (GO:0008283)|clathrin coat assembly (GO:0048268)|endocytic recycling (GO:0032456)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|Golgi to endosome transport (GO:0006895)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|protein transport (GO:0015031)|vesicle organization (GO:0016050)	AP-2 adaptor complex (GO:0030122)|ciliary membrane (GO:0060170)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|polyubiquitin binding (GO:0031593)	p.0?(2)|p.?(1)		endometrium(3)|kidney(5)|large_intestine(8)|lung(13)|prostate(2)|skin(1)|stomach(1)|urinary_tract(2)	35						CACAGTACTTACAGCACTGAA	0.358			T	MLL	ALL																																	ENST00000371733.3				Dom	yes		1	1p32	2060	T	epidermal growth factor receptor pathway substrate 15 (AF1p)			L	MLL		ALL		3	Whole gene deletion(2)|Unknown(1)	p.0?(2)|p.?(1)	thyroid(1)|prostate(1)|central_nervous_system(1)	endometrium(3)|kidney(5)|large_intestine(8)|lung(13)|prostate(2)|skin(1)|stomach(1)|urinary_tract(2)	35						c.e24+1		epidermal growth factor receptor pathway substrate 15							118	116	116					1																	51826841		2203	4300	6503	SO:0001630	splice_region_variant	2060				cell proliferation|clathrin coat assembly|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|protein transport	cytosol|early endosome membrane	calcium ion binding|SH3 domain binding	g.chr1:51826841A>G	BC054006	CCDS557.1	1p32	2013-01-10			ENSG00000085832	ENSG00000085832		"EF-hand domain containing"	3419	protein-coding gene	gene with protein product		600051				8183552	Standard	NM_001159969		Approved	AF-1P, MLLT5	uc001csq.1	P42566	OTTHUMG00000008192	ENST00000371733.3:c.2544+1T>C	1.37:g.51826841A>G						EPS15_ENST00000396122.4_Splice_Site|EPS15_ENST00000371730.2_Splice_Site		NM_001981.2	NP_001972.1	P42566	EPS15_HUMAN			24	2641	-								B2R8J7|D3DPJ2|Q5SRH4	Splice_Site	SNP	ENST00000371733.3	37		CCDS557.1	.	.	.	.	.	.	.	.	.	.	A	21.5	4.152012	0.78001	.	.	ENSG00000085832	ENST00000371730;ENST00000371733;ENST00000396122	.	.	.	5.85	5.85	0.93711	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.8025	0.69926	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	EPS15	51599429	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	6.041000	0.70988	2.230000	0.72887	0.482000	0.46254	.		0.358	EPS15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022422.1	NM_001981	Intron	40	128	0	0	0	0.092188	0	40	128					G	51826841	A	G	51826841	5	3	30	1	0	0	0	0	0	0	1	0	5192	405	14	4	152	4	EPS15	1	51826841	Splice_Site	SNP	A	TCGA-CH-5764-01A-21D-1576-08	35569683	51826841	197423780	3	1471											
PRPF38B	55119	broad.mit.edu	37	chr1	109241909	109241909	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aagagagaaagaacgccagcGactagagcgtgaagccaaag	18	2	13	8	3	0	5	0	1	0	4	0	7	0	5	2	0	4	0	2	0	6	1			TCGA-CH-5764-01A-21D-1576-08	TCGA-CH-5764-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df9acd7f-8875-4113-aba6-e89844ca6a43	fcc3c66f-f4b0-4cbc-add4-9f14713ef0eb	g.chr1:109241909G>A	ENST00000370025.4	+	6	1177	c.908G>A	c.(907-909)cGa>cAa	p.R303Q	PRPF38B_ENST00000370021.1_Missense_Mutation_p.R192Q	NM_018061.2	NP_060531.2	Q5VTL8	PR38B_HUMAN	pre-mRNA processing factor 38B	303	Arg-rich.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	spliceosomal complex (GO:0005681)	poly(A) RNA binding (GO:0044822)	p.R303Q(1)		NS(1)|kidney(3)|large_intestine(5)|lung(8)|prostate(1)|skin(1)	19		all_epithelial(167;0.000154)|all_lung(203;0.00026)|Lung NSC(277;0.000508)		Colorectal(144;0.0149)|Lung(183;0.0888)|COAD - Colon adenocarcinoma(174;0.113)|Epithelial(280;0.161)		GAACGCCAGCGACTAGAGCGT	0.512																																						ENST00000370021.1																			1	Substitution - Missense(1)	p.R303Q(1)	prostate(1)	NS(1)|kidney(3)|large_intestine(5)|lung(8)|prostate(1)|skin(1)	19						c.(574-576)cGa>cAa		pre-mRNA processing factor 38B							79	81	80					1																	109241909		2203	4300	6503	SO:0001583	missense	55119				mRNA processing|RNA splicing	spliceosomal complex		g.chr1:109241909G>A	AL833950	CCDS788.1	1p13.3	2013-10-03	2013-10-03		ENSG00000134186	ENSG00000134186			25512	protein-coding gene	gene with protein product			"PRP38 pre-mRNA processing factor 38 (yeast) domain containing B"				Standard	NM_018061		Approved	FLJ10330, NET1	uc001dvv.4	Q5VTL8	OTTHUMG00000010991	ENST00000370025.4:c.908G>A	1.37:g.109241909G>A	ENSP00000359042:p.Arg303Gln					PRPF38B_ENST00000370025.4_Missense_Mutation_p.R303Q	p.R192Q			Q5VTL8	PR38B_HUMAN		Colorectal(144;0.0149)|Lung(183;0.0888)|COAD - Colon adenocarcinoma(174;0.113)|Epithelial(280;0.161)	7	1212	+		all_epithelial(167;0.000154)|all_lung(203;0.00026)|Lung NSC(277;0.000508)	303					Q05DD6|Q32Q58|Q5VTL9|Q6PK39|Q7Z6E2|Q86WF3|Q8IWG9|Q9NW40	Missense_Mutation	SNP	ENST00000370025.4	37	c.575G>A	CCDS788.1	.	.	.	.	.	.	.	.	.	.	G	15.75	2.925428	0.52759	.	.	ENSG00000134186	ENST00000370025;ENST00000370021	T	0.28895	1.59	5.69	5.69	0.88448	.	0.055616	0.64402	D	0.000002	T	0.21801	0.0525	L	0.27053	0.805	0.58432	D	0.999999	D	0.57899	0.981	P	0.47603	0.551	T	0.00956	-1.1501	10	0.45353	T	0.12	.	19.8041	0.96521	0.0:0.0:1.0:0.0	.	303	Q5VTL8	PR38B_HUMAN	Q	303;192	ENSP00000359042:R303Q	ENSP00000359038:R192Q	R	+	2	0	PRPF38B	109043432	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.133000	0.77259	2.698000	0.92095	0.591000	0.81541	CGA		0.512	PRPF38B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030231.1	NM_018061		12	77	0	0	0	0.080935	0	12	77					A	109241909	G	A	109241909	3	1	30	1	0	0	0	0	1	0	0	0	12568	1058	37	2	930	2	PRPF38B	1	109241909	Missense_Mutation	SNP	G	TCGA-CH-5764-01A-21D-1576-08	57415068	109241909	140008712	4	1472											
CABC1	56997	broad.mit.edu	37	chr1	227152757	227152757	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttcggcggcccagaaggggaGttccacttctcagtcccgca	7	8	12	14	3	1	1	1	0	1	1	5	2	3	2	3	4	0	2	3	4	1	3			TCGA-CH-5764-01A-21D-1576-08	TCGA-CH-5764-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df9acd7f-8875-4113-aba6-e89844ca6a43	fcc3c66f-f4b0-4cbc-add4-9f14713ef0eb	g.chr1:227152757G>A	ENST00000366779.1	+	8	3005	c.234G>A	c.(232-234)gaG>gaA	p.E78E	ADCK3_ENST00000478406.1_Intron|ADCK3_ENST00000366778.1_Silent_p.E26E|ADCK3_ENST00000366777.3_Silent_p.E78E|ADCK3_ENST00000433743.2_5'Flank|ADCK3_ENST00000458507.2_Intron			Q8NI60	ADCK3_HUMAN	aarF domain containing kinase 3	78					cell death (GO:0008219)|ubiquinone biosynthetic process (GO:0006744)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.E78E(1)		endometrium(1)|kidney(2)|large_intestine(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	9						CAGAAGGGGAGTTCCACTTCT	0.587																																						ENST00000366779.1																			1	Substitution - coding silent(1)	p.E78E(1)	prostate(1)	endometrium(1)|kidney(2)|large_intestine(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	9						c.(232-234)gaG>gaA		aarF domain containing kinase 3							51	59	56					1																	227152757		2203	4300	6503	SO:0001819	synonymous_variant	56997				cell death	mitochondrion	ATP binding|protein serine/threonine kinase activity	g.chr1:227152757G>A	AJ278126	CCDS1557.1	1q42.11	2011-05-03	2010-10-01	2010-10-01	ENSG00000163050	ENSG00000163050			16812	protein-coding gene	gene with protein product	"coenzyme Q8 homolog (yeast)"	606980	"chaperone-ABC1 (activity of bc1 complex, S.pombe)-like", "chaperone, ABC1 activity of bc1 complex like (S. pombe)", "chaperone, ABC1 activity of bc1 complex homolog (S. pombe)"	CABC1			Standard	NM_020247		Approved	COQ8, SCAR9	uc001hqn.1	Q8NI60	OTTHUMG00000037621	ENST00000366779.1:c.234G>A	1.37:g.227152757G>A						ADCK3_ENST00000366777.3_Silent_p.E78E|ADCK3_ENST00000366778.1_Silent_p.E26E|ADCK3_ENST00000478406.1_Intron|ADCK3_ENST00000366775.1_Intron|ADCK3_ENST00000366776.1_Intron|ADCK3_ENST00000458507.2_Intron	p.E78E			Q8NI60	ADCK3_HUMAN			8	3005	+			78					Q5T7A5|Q63HK0|Q8NCJ6|Q9HBQ1|Q9NQ67	Silent	SNP	ENST00000366779.1	37	c.234G>A	CCDS1557.1																																																																																				0.587	ADCK3-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091712.1	NM_020247		6	57	0	0	0	0.021553	0	6	57					A	227152757	G	A	227152757	2	1	30	1	0	0	0	0	0	0	0	1	2527	1020	36	3		3	CABC1	1	227152757	Silent	SNP	G	TCGA-CH-5764-01A-21D-1576-08	117910848	227152757	22097864	5	1473											
CNNM4	26504	broad.mit.edu	37	chr2	97464910	97464910	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acaataagtactacgcccgcCattacctgtacacccgaaat	14	8	5	14	3	0	0	0	0	0	0	0	1	0	0	4	0	4	2	4	0	7	5			TCGA-CH-5764-01A-21D-1576-08	TCGA-CH-5764-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df9acd7f-8875-4113-aba6-e89844ca6a43	fcc3c66f-f4b0-4cbc-add4-9f14713ef0eb	g.chr2:97464910C>A	ENST00000377075.2	+	4	1896	c.1798C>A	c.(1798-1800)Cat>Aat	p.H600N	MIR3127_ENST00000583925.1_RNA|CNNM4_ENST00000496186.1_3'UTR|CNNM4_ENST00000540067.1_Missense_Mutation_p.H87N	NM_020184.3	NP_064569.3	Q6P4Q7	CNNM4_HUMAN	cyclin and CBS domain divalent metal cation transport mediator 4	600					biomineral tissue development (GO:0031214)|ion transport (GO:0006811)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	adenyl nucleotide binding (GO:0030554)	p.H600N(1)		breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)	20						CTACGCCCGCCATTACCTGTA	0.567																																						ENST00000377075.2																			1	Substitution - Missense(1)	p.H600N(1)	prostate(1)	breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)	20						c.(1798-1800)Cat>Aat		cyclin M4							91	83	86					2																	97464910		2203	4300	6503	SO:0001583	missense	26504				biomineral tissue development|ion transport|response to stimulus|visual perception	integral to membrane|plasma membrane		g.chr2:97464910C>A	AB046812	CCDS2024.2	2q11.2	2014-08-08	2014-08-07		ENSG00000158158	ENSG00000158158			105	protein-coding gene	gene with protein product		607805	"cyclin M4"	ACDP4		21393841, 24194943	Standard	XM_005263914		Approved	KIAA1592	uc002swx.3	Q6P4Q7	OTTHUMG00000130532	ENST00000377075.2:c.1798C>A	2.37:g.97464910C>A	ENSP00000366275:p.His600Asn					CNNM4_ENST00000496186.1_3'UTR|CNNM4_ENST00000540067.1_Missense_Mutation_p.H87N	p.H600N	NM_020184.3	NP_064569.3	Q6P4Q7	CNNM4_HUMAN			4	1896	+			600					B7Z1U0|C7SQM3|C7SQM4|C7SQM5|Q53RE5|Q9H9G3|Q9HCI0|Q9NRN1	Missense_Mutation	SNP	ENST00000377075.2	37	c.1798C>A	CCDS2024.2	.	.	.	.	.	.	.	.	.	.	C	15.10	2.732014	0.48939	.	.	ENSG00000158158	ENST00000377075;ENST00000540067	T	0.40756	1.02	5.02	4.09	0.47781	RmlC-like jelly roll fold (1);Cyclic nucleotide-binding domain (2);	0.107964	0.64402	D	0.000008	T	0.31482	0.0798	L	0.35414	1.06	0.42041	D	0.991073	B;B	0.32781	0.384;0.219	B;B	0.31869	0.137;0.126	T	0.14420	-1.0473	10	0.37606	T	0.19	-2.8035	12.5146	0.56026	0.2683:0.7317:0.0:0.0	.	87;600	B7Z1U0;Q6P4Q7	.;CNNM4_HUMAN	N	600;87	ENSP00000366275:H600N	ENSP00000366275:H600N	H	+	1	0	CNNM4	96828637	0.998000	0.40836	0.895000	0.35142	0.798000	0.45092	3.881000	0.56152	2.492000	0.84095	0.561000	0.74099	CAT		0.567	CNNM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252954.1	NM_020184		9	94	1	0	0.0477658	0.047766	0.0509932	9	94					A	97464910	C	A	97464910	3	1	30	1	0	0	0	0	1	0	0	0	3615	594	21	5	1812	5	CNNM4	2	97464910	Missense_Mutation	SNP	C	TCGA-CH-5764-01A-21D-1576-08		97464910	145734463	6	1474											
SCN3A	6328	broad.mit.edu	37	chr2	165970412	165970412	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actgtagcaggtttttcgaaGattccaccagatcttccctt	9	14	7	11	1	1	2	0	0	1	2	4	3	3	2	3	1	1	3	3	1	2	6			TCGA-CH-5764-01A-21D-1576-08	TCGA-CH-5764-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df9acd7f-8875-4113-aba6-e89844ca6a43	fcc3c66f-f4b0-4cbc-add4-9f14713ef0eb	g.chr2:165970412G>T	ENST00000360093.3	-	20	4074	c.3583C>A	c.(3583-3585)Ctt>Att	p.L1195I	SCN3A_ENST00000409101.3_Missense_Mutation_p.L1146I|SCN3A_ENST00000283254.7_Missense_Mutation_p.L1195I	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	1195					membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)	p.L1195I(1)		NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lacosamide(DB06218)|Valproic Acid(DB00313)|Zonisamide(DB00909)	GTTTTTCGAAGATTCCACCAG	0.343																																						ENST00000360093.3																			1	Substitution - Missense(1)	p.L1195I(1)	prostate(1)	NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120						c.(3583-3585)Ctt>Att		sodium channel, voltage-gated, type III, alpha subunit	Lamotrigine(DB00555)						196	171	179					2																	165970412		2203	4300	6503	SO:0001583	missense	6328					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:165970412G>T	AF035685	CCDS33312.1, CCDS46440.1	2q24	2012-02-26	2007-01-23		ENSG00000153253	ENSG00000153253		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10590	protein-coding gene	gene with protein product		182391	"sodium channel, voltage-gated, type III, alpha polypeptide"			9589372, 16382098	Standard	NM_001081676		Approved	Nav1.3	uc002ucx.3	Q9NY46	OTTHUMG00000044171	ENST00000360093.3:c.3583C>A	2.37:g.165970412G>T	ENSP00000353206:p.Leu1195Ile					SCN3A_ENST00000283254.7_Missense_Mutation_p.L1195I|SCN3A_ENST00000409101.3_Missense_Mutation_p.L1146I	p.L1195I	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN			20	4074	-			1195					Q16142|Q53SX0|Q9BZB3|Q9C006|Q9NYK2|Q9P2J1|Q9UPD1|Q9Y6P4	Missense_Mutation	SNP	ENST00000360093.3	37	c.3583C>A		.	.	.	.	.	.	.	.	.	.	G	18.30	3.593920	0.66219	.	.	ENSG00000153253	ENST00000360093;ENST00000283254;ENST00000409101;ENST00000440431	D;D;D;D	0.90133	-2.62;-2.62;-2.62;-2.62	5.51	5.51	0.81932	Sodium ion transport-associated (1);	0.000000	0.50627	D	0.000109	D	0.89560	0.6750	L	0.41632	1.29	0.80722	D	1	P;P;B;B;P	0.39404	0.589;0.474;0.419;0.419;0.672	B;B;B;B;P	0.46850	0.28;0.285;0.187;0.187;0.529	D	0.89129	0.3508	10	0.48119	T	0.1	.	13.6835	0.62502	0.0742:0.0:0.9258:0.0	.	1195;1146;1146;1146;1195	Q9NY46;E7EUE6;Q9NY46-2;Q9NY46-4;Q9NY46-3	SCN3A_HUMAN;.;.;.;.	I	1195;1195;1146;1146	ENSP00000353206:L1195I;ENSP00000283254:L1195I;ENSP00000386726:L1146I;ENSP00000403348:L1146I	ENSP00000283254:L1195I	L	-	1	0	SCN3A	165678658	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	5.736000	0.68597	2.588000	0.87417	0.585000	0.79938	CTT		0.343	SCN3A-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_006922		7	289	1	0	0.00198382	0.02938	0.00223888	7	289					T	165970412	G	T	165970412	3	4	30	1	0	0	0	0	1	0	0	0	13918	942	33	5	2455	5	SCN3A	2	165970412	Missense_Mutation	SNP	G	TCGA-CH-5764-01A-21D-1576-08	68505502	165970412	77228961	7	1475											
PIKFYVE	200576	broad.mit.edu	37	chr2	209190767	209190767	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aggggatgagatgctctaccCgagattattttgcagagcag	11	10	13	7	1	1	3	0	1	1	3	1	6	1	4	1	2	4	3	1	2	2	4			TCGA-CH-5764-01A-21D-1576-08	TCGA-CH-5764-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df9acd7f-8875-4113-aba6-e89844ca6a43	fcc3c66f-f4b0-4cbc-add4-9f14713ef0eb	g.chr2:209190767C>T	ENST00000264380.4	+	20	3390	c.3232C>T	c.(3232-3234)Cga>Tga	p.R1078*		NM_015040.3	NP_055855.2	Q9Y2I7	FYV1_HUMAN	phosphoinositide kinase, FYVE finger containing	1078					cellular protein metabolic process (GO:0044267)|intracellular signal transduction (GO:0035556)|myelin assembly (GO:0032288)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phospholipid metabolic process (GO:0006644)|protein localization to nucleus (GO:0034504)|retrograde transport, endosome to Golgi (GO:0042147)|small molecule metabolic process (GO:0044281)	cell-cell junction (GO:0005911)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|early endosome membrane (GO:0031901)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|late endosome membrane (GO:0031902)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|vesicle membrane (GO:0012506)	1-phosphatidylinositol-3-phosphate 5-kinase activity (GO:0000285)|1-phosphatidylinositol-4-phosphate 5-kinase activity (GO:0016308)|ATP binding (GO:0005524)|phosphatidylinositol-3,5-bisphosphate 5-phosphatase activity (GO:0043813)|zinc ion binding (GO:0008270)	p.R1078*(2)		NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(14)|kidney(6)|large_intestine(25)|lung(40)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	107						ATGCTCTACCCGAGATTATTT	0.423																																						ENST00000264380.4																			2	Substitution - Nonsense(2)	p.R1078*(2)	prostate(2)	NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(14)|kidney(6)|large_intestine(25)|lung(40)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	107						c.(3232-3234)Cga>Tga		phosphoinositide kinase, FYVE finger containing							71	76	74					2																	209190767		2203	4300	6503	SO:0001587	stop_gained	200576				cellular protein metabolic process|intracellular signal transduction|protein localization to nucleus|retrograde transport, endosome to Golgi	early endosome membrane|membrane raft	1-phosphatidylinositol-3-phosphate 5-kinase activity|1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|metal ion binding|protein binding	g.chr2:209190767C>T	AB023198	CCDS2382.1, CCDS33368.1, CCDS54431.1	2q34	2014-01-15	2009-04-17	2009-04-17	ENSG00000115020	ENSG00000115020		"Zinc fingers, FYVE domain containing"	23785	protein-coding gene	gene with protein product	"zinc finger, FYVE domain containing 29"	609414	"phosphatidylinositol-3-phosphate/phosphatidylinositol 5-kinase, type III"	PIP5K3		9858586, 12270933	Standard	NM_015040		Approved	MGC40423, KIAA0981, PIKfyve, PIP5K, p235, ZFYVE29, FAB1	uc002vcz.3	Q9Y2I7	OTTHUMG00000132945	ENST00000264380.4:c.3232C>T	2.37:g.209190767C>T	ENSP00000264380:p.Arg1078*						p.R1078*	NM_015040.3	NP_055855.2	Q9Y2I7	FYV1_HUMAN			20	3390	+			1078					Q08AR7|Q08AR8|Q53ST3|Q53T36|Q8N5H0|Q8NB67	Nonsense_Mutation	SNP	ENST00000264380.4	37	c.3232C>T	CCDS2382.1	.	.	.	.	.	.	.	.	.	.	C	38	6.701610	0.97772	.	.	ENSG00000115020	ENST00000264380;ENST00000392200;ENST00000452564	.	.	.	6.17	5.3	0.74995	.	0.000000	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-9.8739	14.3068	0.66389	0.3822:0.6178:0.0:0.0	.	.	.	.	X	1078;654;1022	.	ENSP00000264380:R1078X	R	+	1	2	PIKFYVE	208899012	0.993000	0.37304	0.994000	0.49952	0.934000	0.57294	1.854000	0.39368	1.639000	0.50556	-0.127000	0.14921	CGA		0.423	PIKFYVE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256477.2	NM_015040		5	189	0	0	0	0.021553	0	5	189					T	209190767	C	T	209190767	4	4	30	1	0	0	0	0	0	1	0	0	11924	644	23	2	3317	2	PIKFYVE	2	209190767	Nonsense_Mutation	SNP	C	TCGA-CH-5764-01A-21D-1576-08	43220355	209190767	34008606	8	1476											
GIGYF2	26058	broad.mit.edu	37	chr2	233620970	233620970	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtaaatagtgctgctgtccTgcgattgacaggacgaggag	10	10	14	7	2	0	1	0	1	0	0	1	5	1	3	1	2	3	3	1	2	3	3			TCGA-CH-5764-01A-21D-1576-08	TCGA-CH-5764-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df9acd7f-8875-4113-aba6-e89844ca6a43	fcc3c66f-f4b0-4cbc-add4-9f14713ef0eb	g.chr2:233620970T>C	ENST00000409547.1	+	8	616	c.305T>C	c.(304-306)cTg>cCg	p.L102P	GIGYF2_ENST00000409451.3_Missense_Mutation_p.L102P|GIGYF2_ENST00000373566.3_Missense_Mutation_p.L102P|GIGYF2_ENST00000409480.1_Missense_Mutation_p.L102P|GIGYF2_ENST00000373563.4_Missense_Mutation_p.L102P|GIGYF2_ENST00000409196.3_Missense_Mutation_p.L102P	NM_015575.3	NP_056390.2	Q6Y7W6	PERQ2_HUMAN	GRB10 interacting GYF protein 2	102					adult locomotory behavior (GO:0008344)|cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|feeding behavior (GO:0007631)|homeostasis of number of cells within a tissue (GO:0048873)|insulin-like growth factor receptor signaling pathway (GO:0048009)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|musculoskeletal movement (GO:0050881)|negative regulation of translation (GO:0017148)|neuromuscular process controlling balance (GO:0050885)|post-embryonic development (GO:0009791)|spinal cord motor neuron differentiation (GO:0021522)	membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)	p.L102P(1)		NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(17)|lung(11)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	63		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145)		GCTGCTGTCCTGCGATTGACA	0.393																																						ENST00000373566.3																			1	Substitution - Missense(1)	p.L102P(1)	prostate(1)	NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(17)|lung(11)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	63						c.(304-306)cTg>cCg		GRB10 interacting GYF protein 2							54	57	56					2																	233620970		2203	4300	6503	SO:0001583	missense	26058				cell death		protein binding	g.chr2:233620970T>C	U80751	CCDS33401.1, CCDS46542.1, CCDS46543.1	2q37.1	2011-07-06	2008-02-11	2008-02-11	ENSG00000204120	ENSG00000204120		"Trinucleotide (CAG) repeat containing"	11960	protein-coding gene	gene with protein product	"GYF domain containing 2"	612003	"PERQ amino acid rich, with GYF domain 2", "PERQ amino acid rich, with GYF domain 3", "trinucleotide repeat containing 15", "Parkinson disease (autosomal recessive, early onset) 11"	PERQ2, PERQ3, TNRC15, PARK11		9225980, 9734811, 12771153, 18358451, 19279319	Standard	NM_015575		Approved	KIAA0642, GYF2	uc002vtk.4	Q6Y7W6	OTTHUMG00000153237	ENST00000409547.1:c.305T>C	2.37:g.233620970T>C	ENSP00000386537:p.Leu102Pro					GIGYF2_ENST00000373563.4_Missense_Mutation_p.L102P|GIGYF2_ENST00000409480.1_Missense_Mutation_p.L102P|GIGYF2_ENST00000409547.1_Missense_Mutation_p.L102P|GIGYF2_ENST00000409451.3_Missense_Mutation_p.L102P|GIGYF2_ENST00000409196.3_Missense_Mutation_p.L102P	p.L102P			Q6Y7W6	PERQ2_HUMAN		Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145)	6	502	+		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)	102					A6H8W4|B9EG55|E9PBB0|O75137|Q7Z2Z8|Q7Z3I2|Q96HU4|Q9NV82	Missense_Mutation	SNP	ENST00000409547.1	37	c.305T>C	CCDS33401.1	.	.	.	.	.	.	.	.	.	.	T	31	5.061973	0.93846	.	.	ENSG00000204120	ENST00000373566;ENST00000414511;ENST00000373563;ENST00000428883;ENST00000409480;ENST00000430720;ENST00000409547;ENST00000535418;ENST00000423659;ENST00000409196;ENST00000409451;ENST00000429187;ENST00000440945	T;T;T;T;T;T;T;T;T;T	0.79749	-1.1;-1.1;-1.3;-1.1;-1.28;-1.1;-1.1;-1.09;-1.1;-1.24	5.83	5.83	0.93111	.	0.000000	0.64402	D	0.000001	D	0.90393	0.6993	M	0.82517	2.595	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.91635	0.999;0.998;0.999	D	0.91720	0.5388	10	0.87932	D	0	-15.7738	16.194	0.82011	0.0:0.0:0.0:1.0	.	102;102;102	A6H8W4;Q6Y7W6;E9PBB0	.;PERQ2_HUMAN;.	P	102	ENSP00000362667:L102P;ENSP00000362664:L102P;ENSP00000402712:L102P;ENSP00000386765:L102P;ENSP00000396958:L102P;ENSP00000386537:L102P;ENSP00000404195:L102P;ENSP00000387070:L102P;ENSP00000387170:L102P;ENSP00000410297:L102P	ENSP00000362664:L102P	L	+	2	0	GIGYF2	233329214	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	8.040000	0.89188	2.225000	0.72522	0.460000	0.39030	CTG		0.393	GIGYF2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000330316.2	NM_001103146		3	78	0	0	0	0.115264	0	3	78					C	233620970	T	C	233620970	3	2	30	1	0	0	0	0	1	0	0	0	6378	1580	55	4	319	4	GIGYF2	2	233620970	Missense_Mutation	SNP	T	TCGA-CH-5764-01A-21D-1576-08	24430203	233620970	9578403	9	1477											
PRSS50	29122	broad.mit.edu	37	chr3	46755773	46755773	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtccttcaacacatagtccGtgccaggcaggcagatgggc	9	7	13	12	1	1	1	1	0	0	1	3	1	3	1	3	4	2	2	3	4	2	2	rs139823108	byFrequency	TCGA-CH-5764-01A-21D-1576-08	TCGA-CH-5764-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df9acd7f-8875-4113-aba6-e89844ca6a43	fcc3c66f-f4b0-4cbc-add4-9f14713ef0eb	g.chr3:46755773G>A	ENST00000460241.1	-	9	2359	c.689C>T	c.(688-690)aCg>aTg	p.T230M	PRSS50_ENST00000315170.7_Missense_Mutation_p.T230M			Q9UI38	TSP50_HUMAN	protease, serine, 50	230	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				proteolysis (GO:0006508)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)	serine-type endopeptidase activity (GO:0004252)|threonine-type endopeptidase activity (GO:0004298)	p.T230M(1)		endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	11						CACATAGTCCGTGCCAGGCAG	0.602													G|||	2	0.000399361	0	0	5008	,	,		20845	0.002		0	False		,,,				2504	0				Pancreas(41;915 1239 11561 17469)	ENST00000460241.1																			1	Substitution - Missense(1)	p.T230M(1)	prostate(1)	endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	11						c.(688-690)aCg>aTg		protease, serine, 50							125	93	104					3																	46755773		2203	4300	6503	SO:0001583	missense	29122				proteolysis	endoplasmic reticulum	serine-type endopeptidase activity|threonine-type endopeptidase activity	g.chr3:46755773G>A	AF100707	CCDS2745.1	3p21.31	2011-05-24			ENSG00000206549	ENSG00000206549		"Serine peptidases / Serine peptidases"	17910	protein-coding gene	gene with protein product	"cancer/testis antigen 20", "testes specific protease 50"	607950				10397268	Standard	NM_013270		Approved	TSP50, CT20	uc003cqe.1	Q9UI38	OTTHUMG00000164067	ENST00000460241.1:c.689C>T	3.37:g.46755773G>A	ENSP00000418875:p.Thr230Met					PRSS50_ENST00000315170.7_Missense_Mutation_p.T230M	p.T230M			Q9UI38	TSP50_HUMAN			9	2359	-			230			Peptidase S1.			Missense_Mutation	SNP	ENST00000460241.1	37	c.689C>T	CCDS2745.1	2	9.157509157509158E-4	0	0.0	0	0.0	2	0.0034965034965034965	0	0.0	G	8.086	0.773410	0.16051	.	.	ENSG00000206549	ENST00000455218;ENST00000315170;ENST00000460241	D;D	0.89415	-2.51;-2.51	3.6	-3.19	0.05171	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	2.005580	0.03382	N	0.200573	D	0.82360	0.5020	L	0.49126	1.545	0.09310	N	1	B	0.31625	0.332	B	0.17722	0.019	T	0.67397	-0.5681	10	0.46703	T	0.11	.	4.9345	0.13934	0.5301:0.1573:0.3126:0.0	.	230	Q9UI38	TSP50_HUMAN	M	144;230;230	ENSP00000326598:T230M;ENSP00000418875:T230M	ENSP00000326598:T230M	T	-	2	0	PRSS50	46730777	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.416000	0.07097	-0.616000	0.05671	-2.739000	0.00128	ACG		0.602	PRSS50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354544.1			4	47	0	0	0	0.009096	0	4	47					A	46755773	G	A	46755773	3	1	30	1	0	0	0	0	1	0	0	0	12631	1145	40	1	480	1	PRSS50	3	46755773	Missense_Mutation	SNP	G	TCGA-CH-5764-01A-21D-1576-08		46755773	151266657	10	1478											
AGTR1	185	broad.mit.edu	37	chr3	148458896	148458896	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcccaaagctggaaggcataAttacatatttgtcatgattc	13	13	7	8	0	1	1	1	1	0	0	3	2	2	2	1	2	2	2	1	2	5	5			TCGA-CH-5764-01A-21D-1576-08	TCGA-CH-5764-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df9acd7f-8875-4113-aba6-e89844ca6a43	fcc3c66f-f4b0-4cbc-add4-9f14713ef0eb	g.chr3:148458896A>C	ENST00000497524.1	+	2	465	c.74A>C	c.(73-75)aAt>aCt	p.N25T	AGTR1_ENST00000418473.2_Missense_Mutation_p.N25T|AGTR1_ENST00000475347.1_Missense_Mutation_p.N25T|AGTR1_ENST00000349243.3_Missense_Mutation_p.N25T|AGTR1_ENST00000542281.1_Missense_Mutation_p.N25T|AGTR1_ENST00000461609.1_Missense_Mutation_p.N25T|AGTR1_ENST00000474935.1_Missense_Mutation_p.N25T|AGTR1_ENST00000404754.2_Missense_Mutation_p.N25T|AGTR1_ENST00000402260.1_Missense_Mutation_p.N25T	NM_009585.3	NP_033611.1	P30556	AGTR1_HUMAN	angiotensin II receptor, type 1	25					angiotensin-activated signaling pathway (GO:0038166)|calcium-mediated signaling (GO:0019722)|cell chemotaxis (GO:0060326)|G-protein coupled receptor signaling pathway (GO:0007186)|kidney development (GO:0001822)|low-density lipoprotein particle remodeling (GO:0034374)|phospholipase C-activating angiotensin-activated signaling pathway (GO:0086097)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of cholesterol esterification (GO:0010873)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of inflammatory response (GO:0050729)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of NAD(P)H oxidase activity (GO:0033864)|positive regulation of phospholipase A2 activity (GO:0032430)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|regulation of blood vessel size by renin-angiotensin (GO:0002034)|regulation of cell growth (GO:0001558)|regulation of cell proliferation (GO:0042127)|regulation of inflammatory response (GO:0050727)|regulation of renal sodium excretion (GO:0035813)|regulation of systemic arterial blood pressure by renin-angiotensin (GO:0003081)|regulation of vasoconstriction (GO:0019229)|regulation of vasodilation (GO:0042312)|renin-angiotensin regulation of aldosterone production (GO:0002018)|Rho protein signal transduction (GO:0007266)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	angiotensin type I receptor activity (GO:0001596)|angiotensin type II receptor activity (GO:0004945)|bradykinin receptor binding (GO:0031711)|protein heterodimerization activity (GO:0046982)	p.N25T(1)		breast(4)|endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30			LUSC - Lung squamous cell carcinoma(72;0.127)|Lung(72;0.152)		Azilsartan medoxomil(DB08822)|Candesartan(DB00796)|Eprosartan(DB00876)|Forasartan(DB01342)|Irbesartan(DB01029)|Losartan(DB00678)|Olmesartan(DB00275)|Saprisartan(DB01347)|Tasosartan(DB01349)|Telmisartan(DB00966)|Valsartan(DB00177)	GGAAGGCATAATTACATATTT	0.353																																						ENST00000542281.1																			1	Substitution - Missense(1)	p.N25T(1)	prostate(1)	breast(4)|endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						c.(73-75)aAt>aCt		angiotensin II receptor, type 1	Candesartan(DB00796)|Eprosartan(DB00876)|Forasartan(DB01342)|Irbesartan(DB01029)|Losartan(DB00678)|Olmesartan(DB00275)|Saprisartan(DB01347)|Spironolactone(DB00421)|Tasosartan(DB01349)|Telmisartan(DB00966)|Valsartan(DB00177)						109	108	108					3																	148458896		2203	4300	6503	SO:0001583	missense	185				calcium-mediated signaling|cell chemotaxis|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|kidney development|low-density lipoprotein particle remodeling|positive regulation of cellular protein metabolic process|positive regulation of cholesterol esterification|positive regulation of inflammatory response|positive regulation of NAD(P)H oxidase activity|positive regulation of phospholipase A2 activity|positive regulation of reactive oxygen species metabolic process|regulation of cell growth|regulation of cell proliferation|regulation of renal sodium excretion|regulation of vasoconstriction|renin-angiotensin regulation of aldosterone production|Rho protein signal transduction		acetyltransferase activator activity|angiotensin type I receptor activity|angiotensin type II receptor activity|bradykinin receptor binding|protein heterodimerization activity	g.chr3:148458896A>C	M87290	CCDS3137.1	3q24	2012-08-08	2002-02-20		ENSG00000144891	ENSG00000144891		"GPCR / Class A : Angiotensin receptors"	336	protein-coding gene	gene with protein product		106165	"angiotensin receptor 1B"	AGTR1B		1550596	Standard	NM_009585		Approved	AT1, AT2R1, AGTR1A, AT2R1A, HAT1R, AG2S, AT2R1B, AT1B	uc003ewh.4	P30556	OTTHUMG00000159503	ENST00000497524.1:c.74A>C	3.37:g.148458896A>C	ENSP00000419422:p.Asn25Thr					AGTR1_ENST00000461609.1_Missense_Mutation_p.N25T|AGTR1_ENST00000418473.2_Missense_Mutation_p.N25T|AGTR1_ENST00000474935.1_Missense_Mutation_p.N25T|AGTR1_ENST00000404754.2_Missense_Mutation_p.N25T|AGTR1_ENST00000349243.3_Missense_Mutation_p.N25T|AGTR1_ENST00000475347.1_Missense_Mutation_p.N25T|AGTR1_ENST00000402260.1_Missense_Mutation_p.N25T|AGTR1_ENST00000497524.1_Missense_Mutation_p.N25T	p.N25T	NM_031850.3	NP_114038.4	P30556	AGTR1_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.127)|Lung(72;0.152)		4	520	+			25					Q13725|Q8TBK4	Missense_Mutation	SNP	ENST00000497524.1	37	c.74A>C	CCDS3137.1	.	.	.	.	.	.	.	.	.	.	A	9.716	1.158339	0.21454	.	.	ENSG00000144891	ENST00000497524;ENST00000349243;ENST00000542281;ENST00000418473;ENST00000404754;ENST00000475347;ENST00000474935;ENST00000461609;ENST00000402260	T;T;T;T;T;T;T;T;T	0.36699	1.24;1.24;1.24;1.24;1.24;1.24;1.24;1.24;1.24	5.34	-2.58	0.06228	.	0.690699	0.15102	N	0.280486	T	0.19208	0.0461	L	0.27053	0.805	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.18903	-1.0322	10	0.23891	T	0.37	-3.3495	7.098	0.25321	0.4706:0.0:0.4139:0.1156	.	25	P30556	AGTR1_HUMAN	T	25	ENSP00000419422:N25T;ENSP00000273430:N25T;ENSP00000443186:N25T;ENSP00000398832:N25T;ENSP00000385612:N25T;ENSP00000419783:N25T;ENSP00000418084:N25T;ENSP00000418851:N25T;ENSP00000385641:N25T	ENSP00000273430:N25T	N	+	2	0	AGTR1	149941586	0.030000	0.19436	0.610000	0.28997	0.988000	0.76386	0.347000	0.20014	-0.330000	0.08514	0.533000	0.62120	AAT		0.353	AGTR1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355807.1			24	168	0	0	0	0.069288	0	24	168					C	148458896	A	C	148458896	3	2	30	1	0	0	0	0	1	0	0	0	401	101	4	5	76	5	AGTR1	3	148458896	Missense_Mutation	SNP	A	TCGA-CH-5764-01A-21D-1576-08	101703123	148458896	49563534	11	1479											
SLC33A1	9197	broad.mit.edu	37	chr3	155571051	155571051	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tctgggttgaggctgaaaccGcaaatatttgttacaaaagt	13	12	10	6	1	1	2	0	2	1	0	1	2	1	2	1	2	2	4	1	2	6	4			TCGA-CH-5764-01A-21D-1576-08	TCGA-CH-5764-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df9acd7f-8875-4113-aba6-e89844ca6a43	fcc3c66f-f4b0-4cbc-add4-9f14713ef0eb	g.chr3:155571051G>A	ENST00000392845.3	-	1	1116	c.736C>T	c.(736-738)Cgg>Tgg	p.R246W	SLC33A1_ENST00000460729.1_5'UTR|SLC33A1_ENST00000359479.3_Missense_Mutation_p.R246W			O00400	ACATN_HUMAN	solute carrier family 33 (acetyl-CoA transporter), member 1	246					acetyl-CoA transport (GO:0015876)|cell death (GO:0008219)|transmembrane transport (GO:0055085)|transport (GO:0006810)	endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	acetyl-CoA transporter activity (GO:0008521)	p.R246W(1)		endometrium(1)|kidney(3)|large_intestine(6)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1)	22			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			GGCTGAAACCGCAAATATTTG	0.408																																						ENST00000392845.2																			1	Substitution - Missense(1)	p.R246W(1)	prostate(1)	endometrium(1)|kidney(3)|large_intestine(6)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1)	22						c.(736-738)Cgg>Tgg		solute carrier family 33 (acetyl-CoA transporter), member 1							53	56	55					3																	155571051		2203	4300	6503	SO:0001583	missense	9197				cell death|transmembrane transport	endoplasmic reticulum membrane|Golgi membrane|integral to plasma membrane|membrane fraction	acetyl-CoA transporter activity	g.chr3:155571051G>A	D88152	CCDS3173.1	3q25.31	2013-05-22		2002-12-06	ENSG00000169359	ENSG00000169359		"Solute carriers"	95	protein-coding gene	gene with protein product		603690	"acetyl-Coenzyme A transporter", "spastic paraplegia 42 (autosomal dominant)"	ACATN, SPG42		9096318, 19061983	Standard	NM_004733		Approved	AT-1, AT1	uc003fao.2	O00400	OTTHUMG00000158481	ENST00000392845.3:c.736C>T	3.37:g.155571051G>A	ENSP00000376587:p.Arg246Trp					SLC33A1_ENST00000460729.1_5'UTR|SLC33A1_ENST00000359479.3_Missense_Mutation_p.R246W	p.R246W	NM_004733.3	NP_004724.1	O00400	ACATN_HUMAN	Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)		1	1116	-			246					B2R5Q2|D3DNK4	Missense_Mutation	SNP	ENST00000392845.3	37	c.736C>T	CCDS3173.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.967217	0.74131	.	.	ENSG00000169359	ENST00000392845;ENST00000359479	T;T	0.79554	-1.28;-1.28	5.28	4.4	0.53042	Major facilitator superfamily domain, general substrate transporter (1);	0.053337	0.64402	D	0.000001	D	0.91136	0.7209	M	0.91249	3.19	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.92771	0.6232	10	0.87932	D	0	-14.6457	13.3866	0.60799	0.0:0.0:0.7134:0.2866	.	246	O00400	ACATN_HUMAN	W	246	ENSP00000376587:R246W;ENSP00000352456:R246W	ENSP00000352456:R246W	R	-	1	2	SLC33A1	157053745	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.420000	0.59841	1.343000	0.45638	0.650000	0.86243	CGG		0.408	SLC33A1-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351130.3	NM_004733		4	98	0	0	0	0.009096	0	4	98					A	155571051	G	A	155571051	3	1	30	1	0	0	0	0	1	0	0	0	14566	1086	38	1	937	1	SLC33A1	3	155571051	Missense_Mutation	SNP	G	TCGA-CH-5764-01A-21D-1576-08	7112155	155571051	42451379	12	1480											
CCDC39	339829	broad.mit.edu	37	chr3	180381743	180381743	+	Frame_Shift_Del	DEL	A	A	-																															actcacgtaactcatcttgcAagcttgctctttcatccttc																										TCGA-CH-5764-01A-21D-1576-08	TCGA-CH-5764-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df9acd7f-8875-4113-aba6-e89844ca6a43	fcc3c66f-f4b0-4cbc-add4-9f14713ef0eb	g.chr3:180381743delA	ENST00000442201.2	-	2	241	c.122delT	c.(121-123)ttgfs	p.L41fs	CCDC39_ENST00000273654.4_Frame_Shift_Del_p.L125fs	NM_181426.1	NP_852091.1	Q9UFE4	CCD39_HUMAN	coiled-coil domain containing 39	41					axonemal dynein complex assembly (GO:0070286)|cilium-dependent cell motility (GO:0060285)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of liver left/right asymmetry (GO:0071910)|determination of pancreatic left/right asymmetry (GO:0035469)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|heart looping (GO:0001947)|lung development (GO:0030324)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)				NS(1)|breast(1)|endometrium(4)|large_intestine(9)|lung(22)|ovary(6)|prostate(2)	45	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)			CTCATCTTGCAAGCTTGCTCT	0.338																																						ENST00000273654.4																			0				NS(1)|breast(1)|endometrium(4)|large_intestine(9)|lung(22)|ovary(6)|prostate(2)	45						c.(373-375)tgfs		coiled-coil domain containing 39							144	134	137					3																	180381743		1839	4108	5947	SO:0001589	frameshift_variant	339829				axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium axoneme|cytoplasm|cytoskeleton		g.chr3:180381743delA	BC047103	CCDS46964.1	3q26.33	2012-07-27			ENSG00000145075	ENSG00000145075			25244	protein-coding gene	gene with protein product		613798				21131972	Standard	NM_181426		Approved	DKFZp434A128, CILD14, FAP59	uc010hxe.3	Q9UFE4	OTTHUMG00000157857	ENST00000442201.2:c.122delT	3.37:g.180381743delA	ENSP00000405708:p.Leu41fs					CCDC39_ENST00000442201.2_Frame_Shift_Del_p.L41fs	p.L125fs			Q9UFE4	CCD39_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)		8	993	-	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		41					B4E2H1	Frame_Shift_Del	DEL	ENST00000442201.2	37	c.374delT	CCDS46964.1																																																																																				0.338	CCDC39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349783.3	XM_291028		35	141						35	141	---	---	---	---	-	180381743	A	-	180381743	7	5	30	1	0	1	0	1	0	0	0	0	2811	131	5	0	2779	0	CCDC39	3	180381743	Frame_Shift_Del	DEL	A	TCGA-CH-5764-01A-21D-1576-08	24810692	180381743	17640687	13	1481											
PARL	55486	broad.mit.edu	37	chr3	183547482	183547482	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttccaaatcagttcatgaccGtaagtaacataccatctgga	14	11	6	10	1	3	1	2	1	1	0	4	2	4	2	3	1	2	3	3	1	4	5			TCGA-CH-5764-01A-21D-1576-08	TCGA-CH-5764-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df9acd7f-8875-4113-aba6-e89844ca6a43	fcc3c66f-f4b0-4cbc-add4-9f14713ef0eb	g.chr3:183547482G>A	ENST00000317096.4	-	10	1104	c.1044C>T	c.(1042-1044)taC>taT	p.Y348Y	PARL_ENST00000311101.5_Silent_p.Y298Y|PARL_ENST00000435888.1_Silent_p.Y264Y	NM_018622.5	NP_061092.3	Q9H300	PARL_HUMAN	presenilin associated, rhomboid-like	348					membrane protein proteolysis (GO:0033619)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|proteolysis (GO:0006508)|regulation of protein targeting to mitochondrion (GO:1903214)|regulation of reactive oxygen species metabolic process (GO:2000377)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	endopeptidase activity (GO:0004175)|serine-type endopeptidase activity (GO:0004252)	p.Y348Y(1)		endometrium(2)|large_intestine(3)|liver(1)|lung(6)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	17	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		all cancers(12;2.21e-41)|Epithelial(37;1.34e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			GTTCATGACCGTAAGTAACAT	0.423																																						ENST00000317096.4																			1	Substitution - coding silent(1)	p.Y348Y(1)	prostate(1)	endometrium(2)|large_intestine(3)|liver(1)|lung(6)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	17						c.(1042-1044)taC>taT		presenilin associated, rhomboid-like							123	127	126					3																	183547482		2203	4300	6503	SO:0001819	synonymous_variant	55486				proteolysis	integral to membrane|mitochondrial inner membrane|nucleus	serine-type endopeptidase activity	g.chr3:183547482G>A	AF116692	CCDS3248.1, CCDS33897.1	3q27.3	2008-02-05		2006-02-28	ENSG00000175193	ENSG00000175193			18253	protein-coding gene	gene with protein product	"rhomboid 7 homolog 1 (Drosophila)"	607858		PSARL			Standard	XM_005247587		Approved	PRO2207, PSARL1, RHBDS1	uc003fmd.3	Q9H300	OTTHUMG00000156890	ENST00000317096.4:c.1044C>T	3.37:g.183547482G>A						PARL_ENST00000311101.5_Silent_p.Y298Y|PARL_ENST00000435888.1_Silent_p.Y264Y	p.Y348Y	NM_018622.5	NP_061092.3	Q9H300	PARL_HUMAN	all cancers(12;2.21e-41)|Epithelial(37;1.34e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)		10	1104	-	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		348					Q96CQ4|Q9BTJ6|Q9P1E3	Silent	SNP	ENST00000317096.4	37	c.1044C>T	CCDS3248.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.66|11.66	1.706359|1.706359	0.30232|0.30232	.|.	.|.	ENSG00000175193|ENSG00000175193	ENST00000450375;ENST00000417784|ENST00000418450	T|.	0.51325|.	0.71|.	5.71|5.71	-6.81|-6.81	0.01704|0.01704	.|.	.|.	.|.	.|.	.|.	T|T	0.65883|0.65883	0.2734|0.2734	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.68981|0.68981	-0.5266|-0.5266	5|4	.|.	.|.	.|.	-19.5416|-19.5416	18.3207|18.3207	0.90237|0.90237	0.3327:0.0:0.6673:0.0|0.3327:0.0:0.6673:0.0	.|.	.|.	.|.	.|.	W|M	62;140|81	ENSP00000402689:R62W|.	.|.	R|T	-|-	1|2	2|0	PARL|PARL	185030176|185030176	0.001000|0.001000	0.12720|0.12720	0.801000|0.801000	0.32222|0.32222	0.966000|0.966000	0.64601|0.64601	-1.489000|-1.489000	0.02306|0.02306	-1.663000|-1.663000	0.01481|0.01481	-0.414000|-0.414000	0.06135|0.06135	CGG|ACG		0.423	PARL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346465.1	NM_018622		5	350	0	0	0	0.014758	0	5	350					A	183547482	G	A	183547482	2	1	30	1	0	0	0	0	0	0	0	1	11451	1140	40	1		1	PARL	3	183547482	Silent	SNP	G	TCGA-CH-5764-01A-21D-1576-08	3165739	183547482	14474948	14	1482											
FRAS1	80144	broad.mit.edu	37	chr4	79458218	79458218	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctgcttacaaactccagcTggagaaagtctatctttgta	11	14	7	9	0	3	1	0	0	3	1	4	2	4	1	1	1	4	3	1	1	5	5			TCGA-CH-5764-01A-21D-1576-08	TCGA-CH-5764-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df9acd7f-8875-4113-aba6-e89844ca6a43	fcc3c66f-f4b0-4cbc-add4-9f14713ef0eb	g.chr4:79458218T>A	ENST00000264895.6	+	72	11602	c.11162T>A	c.(11161-11163)cTg>cAg	p.L3721Q		NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser extracellular matrix complex subunit 1	3717					cell communication (GO:0007154)|embryonic limb morphogenesis (GO:0030326)|metanephros morphogenesis (GO:0003338)|morphogenesis of an epithelium (GO:0002009)|palate development (GO:0060021)|protein transport (GO:0015031)|skin development (GO:0043588)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sublamina densa (GO:0061618)	metal ion binding (GO:0046872)	p.L3721Q(2)|p.L3722Q(1)		breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						AAACTCCAGCTGGAGAAAGTC	0.418																																						ENST00000264895.6																			3	Substitution - Missense(3)	p.L3721Q(2)|p.L3722Q(1)	prostate(3)	breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						c.(11161-11163)cTg>cAg		Fraser syndrome 1							133	131	132					4																	79458218		1831	4092	5923	SO:0001583	missense	80144				cell communication	integral to membrane|plasma membrane	metal ion binding	g.chr4:79458218T>A	AB040933	CCDS54772.1	4q21.21	2014-06-25	2014-06-25		ENSG00000138759	ENSG00000138759			19185	protein-coding gene	gene with protein product		607830	"Fraser syndrome 1"			12766769, 3118036	Standard	NM_025074		Approved	FLJ22031, FLJ14927, KIAA1500	uc003hlb.2	Q86XX4	OTTHUMG00000160856	ENST00000264895.6:c.11162T>A	4.37:g.79458218T>A	ENSP00000264895:p.Leu3721Gln						p.L3721Q	NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN			72	11602	+			3716					A2RRR8|Q86UZ4|Q8N3U9|Q8NAU7|Q96JW7|Q9H6N9|Q9P228	Missense_Mutation	SNP	ENST00000264895.6	37	c.11162T>A	CCDS54771.1	.	.	.	.	.	.	.	.	.	.	T	27.7	4.859440	0.91433	.	.	ENSG00000138759	ENST00000264895	T	0.64438	-0.1	5.92	5.92	0.95590	.	0.000000	0.64402	D	0.000002	T	0.76870	0.4048	L	0.60455	1.87	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.78886	-0.2027	10	0.87932	D	0	.	16.371	0.83361	0.0:0.0:0.0:1.0	.	3721	E9PHH6	.	Q	3721	ENSP00000264895:L3721Q	ENSP00000264895:L3721Q	L	+	2	0	FRAS1	79677242	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.898000	0.87363	2.267000	0.75376	0.477000	0.44152	CTG		0.418	FRAS1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				32	238	0	0	0	0.059317	0	32	238					A	79458218	T	A	79458218	3	1	30	1	0	0	0	0	1	0	0	0	6042	1580	55	5	11523	5	FRAS1	4	79458218	Missense_Mutation	SNP	T	TCGA-CH-5764-01A-21D-1576-08		79458218	111696058	15	1483											
INTS12	57117	broad.mit.edu	37	chr4	106607868	106607868	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccttgacttctgttctcttaAacgctagaaaagttgtctct	9	16	6	10	1	3	2	0	1	3	1	5	2	3	2	1	0	1	3	1	0	5	6			TCGA-CH-5764-01A-21D-1576-08	TCGA-CH-5764-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df9acd7f-8875-4113-aba6-e89844ca6a43	fcc3c66f-f4b0-4cbc-add4-9f14713ef0eb	g.chr4:106607868A>G	ENST00000451321.2	-	6	1264	c.785T>C	c.(784-786)tTt>tCt	p.F262S	INTS12_ENST00000340139.5_Missense_Mutation_p.F262S|INTS12_ENST00000394735.1_Missense_Mutation_p.F262S	NM_001142471.1	NP_001135943.1	Q96CB8	INT12_HUMAN	integrator complex subunit 12	262					snRNA processing (GO:0016180)	integrator complex (GO:0032039)	zinc ion binding (GO:0008270)	p.F262S(1)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(123;5.12e-07)		TGTTCTCTTAAACGCTAGAAA	0.313																																						ENST00000451321.2																			1	Substitution - Missense(1)	p.F262S(1)	prostate(1)	breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	14						c.(784-786)tTt>tCt		integrator complex subunit 12							101	99	100					4																	106607868		2203	4300	6503	SO:0001583	missense	57117				snRNA processing	integrator complex	protein binding|zinc ion binding	g.chr4:106607868A>G		CCDS3671.1	4q24	2013-01-28	2006-03-15	2006-03-15	ENSG00000138785	ENSG00000138785		"Zinc fingers, PHD-type"	25067	protein-coding gene	gene with protein product	"hypothetical nuclear factor SBBI22"	611355	"PHD finger protein 22"	PHF22		16239144	Standard	NM_020395		Approved	SBBI22, INT12	uc010ilr.3	Q96CB8	OTTHUMG00000131215	ENST00000451321.2:c.785T>C	4.37:g.106607868A>G	ENSP00000415433:p.Phe262Ser					INTS12_ENST00000394735.1_Missense_Mutation_p.F262S|INTS12_ENST00000340139.5_Missense_Mutation_p.F262S	p.F262S	NM_001142471.1	NP_001135943.1	Q96CB8	INT12_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;5.12e-07)	6	1264	-			262					B2RC48|Q3B6Z3|Q9HD71	Missense_Mutation	SNP	ENST00000451321.2	37	c.785T>C	CCDS3671.1	.	.	.	.	.	.	.	.	.	.	A	22.9	4.346927	0.82022	.	.	ENSG00000138785	ENST00000394735;ENST00000340139;ENST00000451321	T;T;T	0.56776	0.44;0.44;0.44	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	T	0.63977	0.2557	L	0.34521	1.04	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	T	0.64360	-0.6426	10	0.49607	T	0.09	-20.1527	16.6406	0.85098	1.0:0.0:0.0:0.0	.	262	Q96CB8	INT12_HUMAN	S	262	ENSP00000378221:F262S;ENSP00000340737:F262S;ENSP00000415433:F262S	ENSP00000340737:F262S	F	-	2	0	INTS12	106827317	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.733000	0.91539	2.326000	0.78906	0.533000	0.62120	TTT		0.313	INTS12-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318624.1	NM_020395		3	132	0	0	0	0.115264	0	3	132					G	106607868	A	G	106607868	3	3	30	1	0	0	0	0	1	0	0	0	7777	14	1	4	611	4	INTS12	4	106607868	Missense_Mutation	SNP	A	TCGA-CH-5764-01A-21D-1576-08	27149650	106607868	84546408	16	1484											
ADAMTS16	170690	broad.mit.edu	37	chr5	5303543	5303543	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aggcaggcctgcaactctcaGagctgcccacctgcatggag	9	6	12	14	0	1	1	1	0	1	1	2	2	1	2	3	3	5	4	3	3	1	0	rs35200003		TCGA-CH-5764-01A-21D-1576-08	TCGA-CH-5764-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df9acd7f-8875-4113-aba6-e89844ca6a43	fcc3c66f-f4b0-4cbc-add4-9f14713ef0eb	g.chr5:5303543G>A	ENST00000274181.7	+	19	3090	c.2952G>A	c.(2950-2952)caG>caA	p.Q984Q		NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	984	TSP type-1 3. {ECO:0000255|PROSITE- ProRule:PRU00210}.				branching involved in ureteric bud morphogenesis (GO:0001658)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.Q984Q(2)		breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						GCAACTCTCAGAGCTGCCCAC	0.677																																						ENST00000274181.7																			2	Substitution - coding silent(2)	p.Q984Q(2)	prostate(2)	breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						c.(2950-2952)caG>caA		ADAM metallopeptidase with thrombospondin type 1 motif, 16							11	13	12					5																	5303543		2000	4154	6154	SO:0001819	synonymous_variant	170690				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:5303543G>A	AJ315734	CCDS43299.1	5p15	2008-07-18	2005-08-19		ENSG00000145536	ENSG00000145536		"ADAM metallopeptidases with thrombospondin type 1 motif"	17108	protein-coding gene	gene with protein product		607510	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 16"			11867212	Standard	NM_139056		Approved	ADAMTS16s	uc003jdl.3	Q8TE57	OTTHUMG00000161663	ENST00000274181.7:c.2952G>A	5.37:g.5303543G>A							p.Q984Q	NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN			19	3090	+			984			TSP type-1 3.		C6G490|Q8IVE2	Silent	SNP	ENST00000274181.7	37	c.2952G>A	CCDS43299.1																																																																																				0.677	ADAMTS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365657.1	NM_139056		4	15	0	0	0	0.009096	0	4	15					A	5303543	G	A	5303543	2	1	30	1	0	0	0	0	0	0	0	1	261	933	33	3		3	ADAMTS16	5	5303543	Silent	SNP	G	TCGA-CH-5764-01A-21D-1576-08		5303543	175611717	17	1485											
BRD8	10902	broad.mit.edu	37	chr5	137485406	137485406	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttaaaggcatcatcacactcGcctgaagggggctggtcttc	9	10	11	11	1	3	1	2	1	1	0	5	1	3	1	1	4	0	2	1	4	3	2			TCGA-CH-5764-01A-21D-1576-08	TCGA-CH-5764-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df9acd7f-8875-4113-aba6-e89844ca6a43	fcc3c66f-f4b0-4cbc-add4-9f14713ef0eb	g.chr5:137485406G>A	ENST00000254900.5	-	23	3572	c.3201C>T	c.(3199-3201)ggC>ggT	p.G1067G		NM_139199.1	NP_631938	Q9H0E9	BRD8_HUMAN	bromodomain containing 8	1067					cell surface receptor signaling pathway (GO:0007166)|chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|intracellular receptor signaling pathway (GO:0030522)|regulation of growth (GO:0040008)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)	mitochondrion (GO:0005739)|NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Swr1 complex (GO:0000812)	sequence-specific DNA binding transcription factor activity (GO:0003700)|thyroid hormone receptor activity (GO:0004887)	p.G1067G(1)		breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(3)|urinary_tract(1)	35			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			CATCACACTCGCCTGAAGGGG	0.502																																						ENST00000254900.5																			1	Substitution - coding silent(1)	p.G1067G(1)	prostate(1)	breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(3)|urinary_tract(1)	35						c.(3199-3201)ggC>ggT		bromodomain containing 8							147	124	132					5																	137485406		2203	4300	6503	SO:0001819	synonymous_variant	10902				cell surface receptor linked signaling pathway|histone H2A acetylation|histone H4 acetylation|regulation of growth|regulation of transcription from RNA polymerase II promoter	mitochondrion|NuA4 histone acetyltransferase complex	sequence-specific DNA binding transcription factor activity|thyroid hormone receptor activity	g.chr5:137485406G>A	AF016270	CCDS4198.1, CCDS34241.1, CCDS54907.1	5q31	2008-02-05			ENSG00000112983	ENSG00000112983			19874	protein-coding gene	gene with protein product		602848				8611617, 9368056	Standard	NM_001164326		Approved	SMAP, p120	uc003lcf.1	Q9H0E9	OTTHUMG00000129204	ENST00000254900.5:c.3201C>T	5.37:g.137485406G>A							p.G1067G	NM_139199.1	NP_631938.1	Q9H0E9	BRD8_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)		23	3572	-			1067					O43178|Q15355|Q58AB0|Q59GN0|Q969M9	Silent	SNP	ENST00000254900.5	37	c.3201C>T	CCDS4198.1																																																																																				0.502	BRD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251282.3	NM_006696		15	154	0	0	0	0.11911	0	15	154					A	137485406	G	A	137485406	2	1	30	1	0	0	0	0	0	0	0	1	1506	1074	38	1		1	BRD8	5	137485406	Silent	SNP	G	TCGA-CH-5764-01A-21D-1576-08	132181863	137485406	43429854	18	1486											
BMP6	654	broad.mit.edu	37	chr6	7845502	7845502	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ctacaaggactgtgttatggGgagttttaaaaaccaaactt	14	12	9	6	0	0	0	0	0	0	0	0	2	0	2	1	3	3	2	1	3	7	5			TCGA-CH-5764-01A-21D-1576-08	TCGA-CH-5764-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df9acd7f-8875-4113-aba6-e89844ca6a43	fcc3c66f-f4b0-4cbc-add4-9f14713ef0eb	g.chr6:7845502G>A	ENST00000283147.6	+	2	953	c.794G>A	c.(793-795)gGg>gAg	p.G265E		NM_001718.4	NP_001709.1	P22004	BMP6_HUMAN	bone morphogenetic protein 6	265					BMP signaling pathway (GO:0030509)|cartilage development (GO:0051216)|cellular response to mechanical stimulus (GO:0071260)|endochondral ossification (GO:0001958)|eye development (GO:0001654)|growth (GO:0040007)|immune response (GO:0006955)|inflammatory response (GO:0006954)|kidney development (GO:0001822)|male genitalia development (GO:0030539)|osteoblast differentiation (GO:0001649)|positive regulation of aldosterone biosynthetic process (GO:0032349)|positive regulation of aldosterone secretion (GO:2000860)|positive regulation of bone mineralization (GO:0030501)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of DNA-dependent DNA replication (GO:2000105)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of protein secretion (GO:0050714)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to activity (GO:0014823)|response to glucocorticoid (GO:0051384)|response to iron ion (GO:0010039)|response to magnesium ion (GO:0032026)|response to retinoic acid (GO:0032526)|skeletal system development (GO:0001501)|SMAD protein signal transduction (GO:0060395)|type B pancreatic cell development (GO:0003323)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|membrane-bounded vesicle (GO:0031988)	BMP receptor binding (GO:0070700)|protein heterodimerization activity (GO:0046982)	p.G265E(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(6)|ovary(1)|prostate(1)	23	Ovarian(93;0.0721)					TGTGTTATGGGGAGTTTTAAA	0.473																																						ENST00000283147.6																			1	Substitution - Missense(1)	p.G265E(1)	prostate(1)	breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(6)|ovary(1)|prostate(1)	23						c.(793-795)gGg>gAg		bone morphogenetic protein 6							99	98	98					6																	7845502		2203	4300	6503	SO:0001583	missense	654				BMP signaling pathway|cartilage development|growth|immune response|positive regulation of aldosterone biosynthetic process|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription from RNA polymerase II promoter|SMAD protein signal transduction	extracellular space	BMP receptor binding|cytokine activity|growth factor activity|protein heterodimerization activity	g.chr6:7845502G>A	AF083030	CCDS4503.1	6p24-p23	2014-01-30	2003-10-06		ENSG00000153162	ENSG00000153162		"Bone morphogenetic proteins", "Endogenous ligands"	1073	protein-coding gene	gene with protein product		112266	"vegetal related growth factor (TGFB-related)"	VGR		1427904, 1453478	Standard	NM_001718		Approved	VGR1	uc003mxu.4	P22004	OTTHUMG00000014217	ENST00000283147.6:c.794G>A	6.37:g.7845502G>A	ENSP00000283147:p.Gly265Glu						p.G265E	NM_001718.4	NP_001709.1	P22004	BMP6_HUMAN			2	953	+	Ovarian(93;0.0721)		265					Q5TCP3	Missense_Mutation	SNP	ENST00000283147.6	37	c.794G>A	CCDS4503.1	.	.	.	.	.	.	.	.	.	.	G	7.690	0.690827	0.15039	.	.	ENSG00000153162	ENST00000537240;ENST00000283147;ENST00000540959	T	0.62498	0.02	5.41	3.62	0.41486	Transforming growth factor-beta, N-terminal (1);	0.344925	0.33419	N	0.004931	T	0.19005	0.0456	N	0.16602	0.42	0.32125	N	0.587561	B	0.18741	0.03	B	0.23716	0.048	T	0.08889	-1.0700	10	0.02654	T	1	.	10.4749	0.44659	0.2137:0.0:0.7863:0.0	.	265	P22004	BMP6_HUMAN	E	187;265;228	ENSP00000283147:G265E	ENSP00000283147:G265E	G	+	2	0	BMP6	7790501	0.999000	0.42202	0.983000	0.44433	0.972000	0.66771	2.863000	0.48396	1.278000	0.44430	0.557000	0.71058	GGG		0.473	BMP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039794.1	NM_001718		13	164	0	0	0	0.09319	0	13	164					A	7845502	G	A	7845502	3	1	30	1	0	0	0	0	1	0	0	0	1464	1232	43	3	800	3	BMP6	6	7845502	Missense_Mutation	SNP	G	TCGA-CH-5764-01A-21D-1576-08		7845502	163269565	19	1487											
TFAP2D	83741	broad.mit.edu	37	chr6	50740431	50740431	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tccaaacagttctcagtgaaAtgctgaactacttggaaaaa	16	10	7	8	0	1	2	1	2	1	0	3	3	2	3	1	1	4	2	1	1	6	3			TCGA-CH-5764-01A-21D-1576-08	TCGA-CH-5764-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df9acd7f-8875-4113-aba6-e89844ca6a43	fcc3c66f-f4b0-4cbc-add4-9f14713ef0eb	g.chr6:50740431A>G	ENST00000008391.3	+	8	1441	c.1213A>G	c.(1213-1215)Atg>Gtg	p.M405V		NM_172238.3	NP_758438.2			transcription factor AP-2 delta (activating enhancer binding protein 2 delta)									p.M405V(1)		NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(26)|ovary(6)|pancreas(1)|prostate(5)|stomach(1)	60	Lung NSC(77;0.0334)					TCTCAGTGAAATGCTGAACTA	0.478																																						ENST00000008391.3																			1	Substitution - Missense(1)	p.M405V(1)	prostate(1)	NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(26)|ovary(6)|pancreas(1)|prostate(5)|stomach(1)	60						c.(1213-1215)Atg>Gtg		transcription factor AP-2 delta (activating enhancer binding protein 2 delta)							69	66	67					6																	50740431		2203	4300	6503	SO:0001583	missense	83741						DNA binding|sequence-specific DNA binding transcription factor activity	g.chr6:50740431A>G	AY028376	CCDS4933.1	6p12.3	2008-02-05	2004-10-26	2004-10-27		ENSG00000008197			15581	protein-coding gene	gene with protein product		610161	"transcription factor AP-2 beta (activating enhancer-binding protein 2 beta)-like 1"	TFAP2BL1		11733187	Standard	NM_172238		Approved		uc003paf.3	Q7Z6R9		ENST00000008391.3:c.1213A>G	6.37:g.50740431A>G	ENSP00000008391:p.Met405Val						p.M405V	NM_172238.3	NP_758438.2	Q7Z6R9	AP2D_HUMAN			8	1441	+	Lung NSC(77;0.0334)		405			H-S-H (helix-span-helix), dimerization.			Missense_Mutation	SNP	ENST00000008391.3	37	c.1213A>G	CCDS4933.1	.	.	.	.	.	.	.	.	.	.	A	17.71	3.457655	0.63401	.	.	ENSG00000008197	ENST00000008391	D	0.96136	-3.92	5.46	5.46	0.80206	Transcription factor AP-2, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.93628	0.7965	L	0.59436	1.845	0.80722	D	1	P	0.38440	0.631	B	0.43360	0.417	D	0.94691	0.7874	10	0.72032	D	0.01	-16.8175	15.5329	0.75977	1.0:0.0:0.0:0.0	.	405	Q7Z6R9	AP2D_HUMAN	V	405	ENSP00000008391:M405V	ENSP00000008391:M405V	M	+	1	0	TFAP2D	50848390	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	8.962000	0.93254	2.083000	0.62718	0.383000	0.25322	ATG		0.478	TFAP2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040881.1	NM_172238		33	94	0	0	0	0.050027	0	33	94					G	50740431	A	G	50740431	3	3	30	1	0	0	0	0	1	0	0	0	15787	101	4	4	1243	4	TFAP2D	6	50740431	Missense_Mutation	SNP	A	TCGA-CH-5764-01A-21D-1576-08	42894929	50740431	120374636	20	1488											
LGSN	51557	broad.mit.edu	37	chr6	63990299	63990299	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atatacagctgttgtcattgTatccccatgttgtaggcaca	10	14	8	9	0	1	0	1	0	0	0	2	0	2	0	2	1	2	6	2	1	4	7			TCGA-CH-5764-01A-21D-1576-08	TCGA-CH-5764-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df9acd7f-8875-4113-aba6-e89844ca6a43	fcc3c66f-f4b0-4cbc-add4-9f14713ef0eb	g.chr6:63990299T>C	ENST00000370657.4	-	4	1190	c.1157A>G	c.(1156-1158)tAc>tGc	p.Y386C	LGSN_ENST00000370658.5_3'UTR			Q5TDP6	LGSN_HUMAN	lengsin, lens protein with glutamine synthetase domain	386					glutamine biosynthetic process (GO:0006542)	plasma membrane (GO:0005886)	glutamate-ammonia ligase activity (GO:0004356)	p.Y386C(2)		NS(1)|endometrium(2)|large_intestine(5)|lung(16)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						GTTGTCATTGTATCCCCATGT	0.468																																						ENST00000370657.4																			2	Substitution - Missense(2)	p.Y386C(2)	prostate(2)	NS(1)|endometrium(2)|large_intestine(5)|lung(16)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						c.(1156-1158)tAc>tGc		lengsin, lens protein with glutamine synthetase domain	L-Glutamic Acid(DB00142)						172	172	172					6																	63990299		2203	4300	6503	SO:0001583	missense	51557				glutamine biosynthetic process		glutamate-ammonia ligase activity	g.chr6:63990299T>C	AF242388	CCDS4964.1, CCDS55027.1	6q12	2013-09-19	2008-09-19	2008-09-19	ENSG00000146166	ENSG00000146166			21016	protein-coding gene	gene with protein product		611470	"glutamate-ammonia ligase (glutamine synthetase) domain containing 1"	GLULD1		12107412	Standard	NM_016571		Approved	LGS	uc003peh.3	Q5TDP6	OTTHUMG00000014946	ENST00000370657.4:c.1157A>G	6.37:g.63990299T>C	ENSP00000359691:p.Tyr386Cys					LGSN_ENST00000370658.5_3'UTR	p.Y386C			Q5TDP6	LGSN_HUMAN			4	1190	-			386					A1L421|Q0PVN9|Q0PVP0|Q9NYJ0	Missense_Mutation	SNP	ENST00000370657.4	37	c.1157A>G	CCDS4964.1	.	.	.	.	.	.	.	.	.	.	T	3.889	-0.024376	0.07634	.	.	ENSG00000146166	ENST00000370657	D	0.86030	-2.06	5.86	4.69	0.59074	Glutamine synthetase, catalytic domain (1);Glutamine synthetase/guanido kinase, catalytic domain (1);	0.100250	0.64402	D	0.000001	T	0.67505	0.2900	L	0.33245	0.995	0.80722	D	1	B	0.21753	0.06	B	0.30105	0.111	T	0.64960	-0.6284	10	0.38643	T	0.18	-17.2712	9.846	0.41028	0.2733:0.0:0.0:0.7267	.	386	Q5TDP6	LGSN_HUMAN	C	386	ENSP00000359691:Y386C	ENSP00000359691:Y386C	Y	-	2	0	LGSN	64048258	1.000000	0.71417	0.503000	0.27626	0.115000	0.19883	1.837000	0.39201	1.025000	0.39708	0.533000	0.62120	TAC		0.468	LGSN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041076.2	NM_016571		132	299	0	0	0	0.139131	0	132	299					C	63990299	T	C	63990299	3	2	30	1	0	0	0	0	1	0	0	0	8759	1638	57	4	376	4	LGSN	6	63990299	Missense_Mutation	SNP	T	TCGA-CH-5764-01A-21D-1576-08	13249868	63990299	107124768	21	1489											
MAN1A1	4121	broad.mit.edu	37	chr6	119509656	119509656	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agtctccataacttctggccGtaagatgtagtatttttcat	10	16	7	8	1	3	1	1	0	2	1	4	1	3	1	2	1	1	3	2	1	4	7			TCGA-CH-5764-01A-21D-1576-08	TCGA-CH-5764-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df9acd7f-8875-4113-aba6-e89844ca6a43	fcc3c66f-f4b0-4cbc-add4-9f14713ef0eb	g.chr6:119509656G>A	ENST00000368468.3	-	11	2074	c.1633C>T	c.(1633-1635)Cgg>Tgg	p.R545W		NM_005907.3	NP_005898.2	P33908	MA1A1_HUMAN	mannosidase, alpha, class 1A, member 1	545					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|mannosidase activity (GO:0015923)|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity (GO:0004571)	p.R545W(1)		central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(2)|skin(3)	24		all_epithelial(87;0.173)		OV - Ovarian serous cystadenocarcinoma(136;0.0612)|GBM - Glioblastoma multiforme(226;0.0702)|all cancers(137;0.115)		ACTTCTGGCCGTAAGATGTAG	0.413																																					Ovarian(136;8 1825 12608 33541 47587)	ENST00000368468.3																			1	Substitution - Missense(1)	p.R545W(1)	prostate(1)	central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(2)|skin(3)	24						c.(1633-1635)Cgg>Tgg		mannosidase, alpha, class 1A, member 1							193	190	191					6																	119509656		2203	4300	6503	SO:0001583	missense	4121				post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum|ER-Golgi intermediate compartment|Golgi membrane|integral to membrane|membrane fraction	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity	g.chr6:119509656G>A	AK025599	CCDS5122.1	6q22	2008-08-29			ENSG00000111885	ENSG00000111885	3.2.1.113		6821	protein-coding gene	gene with protein product		604344				8223597	Standard	NM_005907		Approved		uc003pym.2	P33908	OTTHUMG00000015472	ENST00000368468.3:c.1633C>T	6.37:g.119509656G>A	ENSP00000357453:p.Arg545Trp						p.R545W	NM_005907.3	NP_005898.2	P33908	MA1A1_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.0612)|GBM - Glioblastoma multiforme(226;0.0702)|all cancers(137;0.115)	11	2074	-		all_epithelial(87;0.173)	545					E7EU32|Q6P052|Q9NU44|Q9UJI3	Missense_Mutation	SNP	ENST00000368468.3	37	c.1633C>T	CCDS5122.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.244459	0.79912	.	.	ENSG00000111885	ENST00000368468	D	0.83837	-1.77	5.92	4.98	0.66077	.	0.000000	0.85682	D	0.000000	D	0.95608	0.8572	H	0.99806	4.795	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97318	0.9942	10	0.87932	D	0	-28.3893	17.0826	0.86603	0.0:0.0:0.8481:0.1519	.	545	P33908	MA1A1_HUMAN	W	545	ENSP00000357453:R545W	ENSP00000357453:R545W	R	-	1	2	MAN1A1	119551355	1.000000	0.71417	1.000000	0.80357	0.850000	0.48378	3.615000	0.54167	2.794000	0.96219	0.650000	0.86243	CGG		0.413	MAN1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042015.1	NM_005907		6	342	0	0	0	0.021553	0	6	342					A	119509656	G	A	119509656	3	1	30	1	0	0	0	0	1	0	0	0	9210	1144	40	1	340	1	MAN1A1	6	119509656	Missense_Mutation	SNP	G	TCGA-CH-5764-01A-21D-1576-08	55519357	119509656	51605411	22	1490											
PRPS1L1	221823	broad.mit.edu	37	chr7	18067240	18067240	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttcgccacaaccactctgaaCgatgtagacatcctctccac	11	9	5	16	2	2	2	0	1	2	1	5	3	3	2	4	0	2	1	4	0	3	2			TCGA-CH-5764-01A-21D-1576-08	TCGA-CH-5764-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df9acd7f-8875-4113-aba6-e89844ca6a43	fcc3c66f-f4b0-4cbc-add4-9f14713ef0eb	g.chr7:18067240C>T	ENST00000506618.2	-	1	246	c.166G>A	c.(166-168)Gtt>Att	p.V56I		NM_175886.2	NP_787082	P21108	PRPS3_HUMAN	phosphoribosyl pyrophosphate synthetase 1-like 1	56					5-phosphoribose 1-diphosphate biosynthetic process (GO:0006015)|nucleotide biosynthetic process (GO:0009165)|ribonucleoside monophosphate biosynthetic process (GO:0009156)		ATP binding (GO:0005524)|kinase activity (GO:0016301)|magnesium ion binding (GO:0000287)|protein homodimerization activity (GO:0042803)|ribose phosphate diphosphokinase activity (GO:0004749)	p.V56I(2)		endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(3)	18	Lung NSC(10;0.0385)|all_lung(11;0.0736)					CCACTCTGAACGATGTAGACA	0.488																																						ENST00000506618.2																			2	Substitution - Missense(2)	p.V56I(2)	prostate(2)	endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(3)	18						c.(166-168)Gtt>Att		phosphoribosyl pyrophosphate synthetase 1-like 1							366	354	358					7																	18067240		2203	4300	6503	SO:0001583	missense	221823				nucleoside metabolic process|ribonucleoside monophosphate biosynthetic process		ATP binding|kinase activity|magnesium ion binding|protein homodimerization activity|ribose phosphate diphosphokinase activity	g.chr7:18067240C>T	M57423	CCDS47552.1	7p21.1	2010-12-10			ENSG00000229937	ENSG00000229937			9463	protein-coding gene	gene with protein product		611566		PRPSL		2168892	Standard	NM_175886		Approved	PRPS3	uc003stz.3	P21108	OTTHUMG00000152742	ENST00000506618.2:c.166G>A	7.37:g.18067240C>T	ENSP00000424595:p.Val56Ile						p.V56I	NM_175886.2	NP_787082.1	P21108	PRPS3_HUMAN			1	246	-	Lung NSC(10;0.0385)|all_lung(11;0.0736)		56					Q6P5P6	Missense_Mutation	SNP	ENST00000506618.2	37	c.166G>A	CCDS47552.1	.	.	.	.	.	.	.	.	.	.	C	0.037	-1.300561	0.01364	.	.	ENSG00000229937	ENST00000506618	D	0.91577	-2.87	4.4	-1.89	0.07689	.	.	.	.	.	T	0.71213	0.3313	N	0.05330	-0.07	.	.	.	B	0.09022	0.002	B	0.11329	0.006	T	0.63180	-0.6695	8	0.02654	T	1	.	1.9455	0.03355	0.1301:0.4204:0.1276:0.3219	.	56	P21108	PRPS3_HUMAN	I	56	ENSP00000424595:V56I	ENSP00000424595:V56I	V	-	1	0	PRPS1L1	18033765	0.634000	0.27190	0.009000	0.14445	0.718000	0.41266	1.315000	0.33608	-0.268000	0.09312	-0.808000	0.03180	GTT		0.488	PRPS1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327667.1	NM_175886		9	533	0	0	0	0.058154	0	9	533					T	18067240	C	T	18067240	3	4	30	1	0	0	0	0	1	0	0	0	12579	536	19	1	794	1	PRPS1L1	7	18067240	Missense_Mutation	SNP	C	TCGA-CH-5764-01A-21D-1576-08		18067240	141071423	23	1491											
GRM3	2913	broad.mit.edu	37	chr7	86415634	86415634	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcagctacgcatccaccagcGccaaactcagtgataagtcg	12	7	8	14	3	2	1	2	1	0	0	4	1	3	1	3	0	4	2	3	0	3	2			TCGA-CH-5764-01A-21D-1576-08	TCGA-CH-5764-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df9acd7f-8875-4113-aba6-e89844ca6a43	fcc3c66f-f4b0-4cbc-add4-9f14713ef0eb	g.chr7:86415634G>A	ENST00000361669.2	+	3	1625	c.526G>A	c.(526-528)Gcc>Acc	p.A176T	GRM3_ENST00000439827.1_Missense_Mutation_p.A176T|AC005009.2_ENST00000418031.1_RNA|GRM3_ENST00000394720.2_Missense_Mutation_p.A174T|AC005009.2_ENST00000452471.1_RNA|GRM3_ENST00000536043.1_Missense_Mutation_p.A48T|GRM3_ENST00000546348.1_Intron	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3	176					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|negative regulation of adenylate cyclase activity (GO:0007194)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)	astrocyte projection (GO:0097449)|axon (GO:0030424)|dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	calcium channel regulator activity (GO:0005246)|G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group II metabotropic glutamate receptor activity (GO:0001641)	p.A176T(2)		NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)					ATCCACCAGCGCCAAACTCAG	0.552																																					GBM(52;969 1098 3139 52280)	ENST00000361669.2																			2	Substitution - Missense(2)	p.A176T(2)	prostate(1)|breast(1)	NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109						c.(526-528)Gcc>Acc		glutamate receptor, metabotropic 3	Acamprosate(DB00659)|Nicotine(DB00184)						140	140	140					7																	86415634		2203	4300	6503	SO:0001583	missense	0				synaptic transmission	integral to plasma membrane		g.chr7:86415634G>A		CCDS5600.1	7q21.1-q21.2	2012-08-29			ENSG00000198822	ENSG00000198822		"GPCR / Class C : Glutamate receptors, metabotropic", "Glutamate receptors"	4595	protein-coding gene	gene with protein product		601115				8824806	Standard	NM_000840		Approved	GPRC1C, mGlu3, MGLUR3	uc003uid.3	Q14832	OTTHUMG00000022884	ENST00000361669.2:c.526G>A	7.37:g.86415634G>A	ENSP00000355316:p.Ala176Thr					GRM3_ENST00000546348.1_Intron|GRM3_ENST00000536043.1_Missense_Mutation_p.A48T|AC005009.2_ENST00000418031.1_RNA|AC005009.2_ENST00000452471.1_RNA|GRM3_ENST00000439827.1_Missense_Mutation_p.A176T|GRM3_ENST00000394720.2_Missense_Mutation_p.A174T	p.A176T	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN			3	1625	+	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)		176					Q2PNZ6|Q75MV4|Q75N17|Q86YG6|Q8TBH9	Missense_Mutation	SNP	ENST00000361669.2	37	c.526G>A	CCDS5600.1	.	.	.	.	.	.	.	.	.	.	G	33	5.206226	0.95033	.	.	ENSG00000198822	ENST00000361669;ENST00000454217;ENST00000536043;ENST00000439827;ENST00000394720	D;D;D;D;D	0.86366	-2.11;-2.11;-2.11;-2.11;-2.11	5.83	5.83	0.93111	Extracellular ligand-binding receptor (1);	0.000000	0.85682	D	0.000000	D	0.91690	0.7373	L	0.56280	1.765	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	P;D;D	0.65573	0.895;0.923;0.936	D	0.90679	0.4604	10	0.45353	T	0.12	.	19.122	0.93367	0.0:0.0:1.0:0.0	.	48;176;176	F5GYZ2;G5E9K2;Q14832	.;.;GRM3_HUMAN	T	176;48;48;176;174	ENSP00000355316:A176T;ENSP00000405427:A48T;ENSP00000441407:A48T;ENSP00000398767:A176T;ENSP00000378209:A174T	ENSP00000355316:A176T	A	+	1	0	GRM3	86253570	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.756000	0.98918	2.770000	0.95276	0.655000	0.94253	GCC		0.552	GRM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253362.2			6	353	0	0	0	0.021553	0	6	353					A	86415634	G	A	86415634	3	1	30	1	0	0	0	0	1	0	0	0	6798	1087	38	1	532	1	GRM3	7	86415634	Missense_Mutation	SNP	G	TCGA-CH-5764-01A-21D-1576-08	68348394	86415634	72723029	24	1492											
AKAP9	10142	broad.mit.edu	37	chr7	91631337	91631337	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	attttggaaatttcaaagctAaaagatttacagcagtctct	15	14	6	6	0	2	1	1	0	1	1	3	2	2	2	0	1	3	2	0	1	5	6			TCGA-CH-5764-01A-21D-1576-08	TCGA-CH-5764-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df9acd7f-8875-4113-aba6-e89844ca6a43	fcc3c66f-f4b0-4cbc-add4-9f14713ef0eb	g.chr7:91631337A>G	ENST00000359028.2	+	9	2367	c.2142A>G	c.(2140-2142)ctA>ctG	p.L714L	AKAP9_ENST00000356239.3_Silent_p.L702L|AKAP9_ENST00000358100.2_Silent_p.L714L			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	714	Glu-rich.				G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|Sertoli cell development (GO:0060009)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)|synaptic transmission (GO:0007268)|transport (GO:0006810)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|pericentriolar material (GO:0000242)|voltage-gated potassium channel complex (GO:0008076)	ion channel binding (GO:0044325)|protein complex scaffold (GO:0032947)|receptor binding (GO:0005102)	p.L714L(1)|p.L702L(1)		NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			TTTCAAAGCTAAAAGATTTAC	0.289			T	BRAF	papillary thyroid																																	ENST00000359028.2				Dom	yes		7	7q21-q22	10142	T	A kinase (PRKA) anchor protein (yotiao) 9			E	BRAF		papillary thyroid		2	Substitution - coding silent(2)	p.L714L(1)|p.L702L(1)	prostate(2)	NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155						c.(2140-2142)ctA>ctG		A kinase (PRKA) anchor protein 9							23	25	24					7																	91631337		1966	4156	6122	SO:0001819	synonymous_variant	10142				G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding	g.chr7:91631337A>G	AF091711	CCDS5622.1	7q21-q22	2014-09-17	2013-09-25		ENSG00000127914	ENSG00000127914		"A-kinase anchor proteins", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	379	protein-coding gene	gene with protein product	"A-kinase anchoring protein 450", "AKAP9-BRAF fusion protein", "AKAP120-like protein", "centrosome- and golgi-localized protein kinase N-associated protein", "protein kinase A anchoring protein 9", "A-kinase anchor protein, 350kDa", "protein phosphatase 1, regulatory subunit 45", "yotiao"	604001				9482789, 10390370, 24475373	Standard	NM_147185		Approved	KIAA0803, AKAP350, AKAP450, CG-NAP, YOTIAO, HYPERION, PRKA9, MU-RMS-40.16A, PPP1R45, LQT11	uc003ulg.3	Q99996	OTTHUMG00000131127	ENST00000359028.2:c.2142A>G	7.37:g.91631337A>G						AKAP9_ENST00000356239.3_Silent_p.L702L|AKAP9_ENST00000358100.2_Silent_p.L714L	p.L714L			Q99996	AKAP9_HUMAN	STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)		9	2367	+	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		714			Glu-rich.		A4D1F0|A4D1F2|A4D1F4|O14869|O43355|O94895|Q75N20|Q9UQH3|Q9UQQ4|Q9Y6B8|Q9Y6Y2	Silent	SNP	ENST00000359028.2	37	c.2142A>G																																																																																					0.289	AKAP9-202	KNOWN	basic	protein_coding	protein_coding		NM_005751		3	101	0	0	0	0.115264	0	3	101					G	91631337	A	G	91631337	2	3	30	1	0	0	0	0	0	0	0	1	459	349	13	4		4	AKAP9	7	91631337	Silent	SNP	A	TCGA-CH-5764-01A-21D-1576-08	5215703	91631337	67507326	25	1493											
STAG3	10734	broad.mit.edu	37	chr7	99795408	99795408	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctcctcaccagcaccgagAagtccgcctgaagtgtgtga	9	7	10	15	2	1	3	1	2	0	1	3	4	3	3	6	0	1	1	6	0	2	0			TCGA-CH-5764-01A-21D-1576-08	TCGA-CH-5764-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df9acd7f-8875-4113-aba6-e89844ca6a43	fcc3c66f-f4b0-4cbc-add4-9f14713ef0eb	g.chr7:99795408A>T	ENST00000426455.1	+	11	1480	c.1073A>T	c.(1072-1074)gAa>gTa	p.E358V	STAG3_ENST00000440830.1_3'UTR|GATS_ENST00000543273.1_RNA|STAG3_ENST00000317296.5_Missense_Mutation_p.E358V|STAG3_ENST00000394018.2_Missense_Mutation_p.E300V	NM_001282716.1	NP_001269645.1	Q9UJ98	STAG3_HUMAN	stromal antigen 3	358	SCD. {ECO:0000255|PROSITE- ProRule:PRU00750}.				chromosome segregation (GO:0007059)|synaptonemal complex assembly (GO:0007130)	chromosome, centromeric region (GO:0000775)|extracellular space (GO:0005615)|lateral element (GO:0000800)|male germ cell nucleus (GO:0001673)|meiotic cohesin complex (GO:0030893)|nuclear meiotic cohesin complex (GO:0034991)|nucleolus (GO:0005730)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)|transverse filament (GO:0000802)		p.E358V(1)		breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(11)|lung(30)|ovary(5)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	66	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CAGCACCGAGAAGTCCGCCTG	0.562																																						ENST00000426455.1																			1	Substitution - Missense(1)	p.E358V(1)	prostate(1)	breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(11)|lung(30)|ovary(5)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	66						c.(1072-1074)gAa>gTa		stromal antigen 3							89	88	88					7																	99795408		2203	4300	6503	SO:0001583	missense	10734				chromosome segregation|synaptonemal complex assembly	chromosome, centromeric region|meiotic cohesin complex|synaptonemal complex	binding	g.chr7:99795408A>T	AJ007798	CCDS34703.1, CCDS64730.1, CCDS75642.1	7q22	2008-02-01			ENSG00000066923	ENSG00000066923			11356	protein-coding gene	gene with protein product		608489				10698974	Standard	XM_005250116		Approved		uc003utx.1	Q9UJ98	OTTHUMG00000155183	ENST00000426455.1:c.1073A>T	7.37:g.99795408A>T	ENSP00000400359:p.Glu358Val					STAG3_ENST00000317296.5_Missense_Mutation_p.E358V|STAG3_ENST00000440830.1_3'UTR|STAG3_ENST00000394018.2_Missense_Mutation_p.E300V	p.E358V			Q9UJ98	STAG3_HUMAN			11	1480	+	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		358			SCD.		A6H8Z1|B4DZ10|D6W5U8|H7BYK9|Q8NDP3	Missense_Mutation	SNP	ENST00000426455.1	37	c.1073A>T	CCDS34703.1	.	.	.	.	.	.	.	.	.	.	.	16.01	3.001410	0.54254	.	.	ENSG00000066923	ENST00000426455;ENST00000394018;ENST00000339784;ENST00000317296	T;T;T	0.34072	1.38;1.38;1.38	5.71	5.71	0.89125	Stromalin conservative domain (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.124068	0.35646	N	0.003073	T	0.39279	0.1072	M	0.78223	2.4	0.39065	D	0.960591	P;B	0.41313	0.745;0.033	B;B	0.37601	0.254;0.036	T	0.51395	-0.8711	10	0.87932	D	0	-2.5797	10.0627	0.42284	0.8311:0.1689:0.0:0.0	.	300;358	B4DZ10;Q9UJ98	.;STAG3_HUMAN	V	358;300;316;358	ENSP00000400359:E358V;ENSP00000377586:E300V;ENSP00000319318:E358V	ENSP00000319318:E358V	E	+	2	0	STAG3	99633344	0.998000	0.40836	0.992000	0.48379	0.201000	0.24016	3.834000	0.55798	2.176000	0.68965	0.528000	0.53228	GAA		0.562	STAG3-004	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000338734.2	NM_012447		8	146	0	0	0	0.047766	0	8	146					T	99795408	A	T	99795408	3	4	30	1	0	0	0	0	1	0	0	0	15243	246	9	5	1111	5	STAG3	7	99795408	Missense_Mutation	SNP	A	TCGA-CH-5764-01A-21D-1576-08	8164071	99795408	59343255	26	1494											
LAMB4	22798	broad.mit.edu	37	chr7	107674715	107674715	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ctgtgtaatggtagagtttgCccgtccttgagtgatttgag	7	15	13	6	1	0	4	0	3	0	1	1	4	1	4	2	1	1	3	2	1	2	5			TCGA-CH-5764-01A-21D-1576-08	TCGA-CH-5764-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df9acd7f-8875-4113-aba6-e89844ca6a43	fcc3c66f-f4b0-4cbc-add4-9f14713ef0eb	g.chr7:107674715C>T	ENST00000388781.3	-	31	4839	c.4756G>A	c.(4756-4758)Gca>Aca	p.A1586T	LAMB4_ENST00000388780.3_Missense_Mutation_p.A1586T|LAMB4_ENST00000205386.4_Missense_Mutation_p.A1586T|AC005048.1_ENST00000401266.1_RNA|LAMB4_ENST00000483484.1_5'UTR	NM_007356.2	NP_031382.2	A4D0S4	LAMB4_HUMAN	laminin, beta 4	1586	Domain I.				cell adhesion (GO:0007155)	basement membrane (GO:0005604)		p.A1586T(1)		NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						GTAGAGTTTGCCCGTCCTTGA	0.333																																						ENST00000388781.3																			1	Substitution - Missense(1)	p.A1586T(1)	prostate(1)	NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						c.(4756-4758)Gca>Aca		laminin, beta 4							289	273	278					7																	107674715		2201	4300	6501	SO:0001583	missense	22798				cell adhesion	basement membrane		g.chr7:107674715C>T	AF028816	CCDS34732.1	7q31	2013-03-01			ENSG00000091128	ENSG00000091128		"Laminins"	6491	protein-coding gene	gene with protein product							Standard	NM_007356		Approved		uc010ljo.1	A4D0S4	OTTHUMG00000154874	ENST00000388781.3:c.4756G>A	7.37:g.107674715C>T	ENSP00000373433:p.Ala1586Thr					LAMB4_ENST00000388780.3_Missense_Mutation_p.A1586T|LAMB4_ENST00000205386.4_Missense_Mutation_p.A1586T|LAMB4_ENST00000483484.1_5'UTR	p.A1586T	NM_007356.2	NP_031382.2	A4D0S4	LAMB4_HUMAN			31	4839	-			1586			Domain I.		A5PKU6|B2RTT3|B5MEB9|Q86TP7|Q86XN2|Q8NBX5	Missense_Mutation	SNP	ENST00000388781.3	37	c.4756G>A	CCDS34732.1	.	.	.	.	.	.	.	.	.	.	C	6.124	0.391166	0.11581	.	.	ENSG00000091128	ENST00000205386;ENST00000388781;ENST00000422975;ENST00000388780	T;T;T;T	0.78816	1.11;1.11;-1.21;1.13	5.3	3.45	0.39498	.	0.449602	0.18608	N	0.136246	T	0.68467	0.3004	N	0.22421	0.69	0.09310	N	0.999998	P;B	0.42941	0.794;0.079	P;B	0.46659	0.523;0.031	T	0.60255	-0.7299	10	0.66056	D	0.02	.	7.3105	0.26471	0.0:0.7954:0.0:0.2046	.	1586;1586	A4D0S4-3;A4D0S4	.;LAMB4_HUMAN	T	1586;1586;612;1586	ENSP00000205386:A1586T;ENSP00000373433:A1586T;ENSP00000416562:A612T;ENSP00000373432:A1586T	ENSP00000205386:A1586T	A	-	1	0	LAMB4	107461951	0.099000	0.21834	0.005000	0.12908	0.025000	0.11179	0.106000	0.15354	0.758000	0.33059	0.655000	0.94253	GCA		0.333	LAMB4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337442.1	XM_209857		6	295	0	0	0	0.021553	0	6	295					T	107674715	C	T	107674715	3	4	30	1	0	0	0	0	1	0	0	0	8613	739	26	3	545	3	LAMB4	7	107674715	Missense_Mutation	SNP	C	TCGA-CH-5764-01A-21D-1576-08	7879307	107674715	51463948	27	1495											
MGAM	8972	broad.mit.edu	37	chr7	141727465	141727465	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcttggatttcacctcagtcGttacgaatatggaaccttag	10	13	9	9	2	2	0	2	0	0	0	3	3	2	2	2	2	2	2	2	2	5	5	rs537674844		TCGA-CH-5764-01A-21D-1576-08	TCGA-CH-5764-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df9acd7f-8875-4113-aba6-e89844ca6a43	fcc3c66f-f4b0-4cbc-add4-9f14713ef0eb	g.chr7:141727465G>A	ENST00000549489.2	+	10	1246	c.1151G>A	c.(1150-1152)cGt>cAt	p.R384H	MGAM_ENST00000475668.2_Missense_Mutation_p.R384H	NM_004668.2	NP_004659.2	O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	384	Maltase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)	p.R384H(4)		cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	CACCTCAGTCGTTACGAATAT	0.453													G|||	1	0.000199681	0	0.0014	5008	,	,		16083	0		0	False		,,,				2504	0					ENST00000475668.2																			4	Substitution - Missense(4)	p.R384H(4)	prostate(4)	cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13						c.(1150-1152)cGt>cAt		maltase-glucoamylase (alpha-glucosidase)	Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)						63	62	62					7																	141727465		1860	4106	5966	SO:0001583	missense	8972				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity	g.chr7:141727465G>A	AF016833	CCDS47727.1	7q34	2012-10-03			ENSG00000257335	ENSG00000257335			7043	protein-coding gene	gene with protein product		154360				9446624	Standard	NM_004668		Approved	MGA	uc003vwy.3	O43451	OTTHUMG00000158395	ENST00000549489.2:c.1151G>A	7.37:g.141727465G>A	ENSP00000447378:p.Arg384His					MGAM_ENST00000549489.2_Missense_Mutation_p.R384H	p.R384H			O43451	MGA_HUMAN			10	1205	+	Melanoma(164;0.0272)		384			Maltase.		Q0VAX6|Q75ME7|Q86UM5	Missense_Mutation	SNP	ENST00000549489.2	37	c.1151G>A	CCDS47727.1	.	.	.	.	.	.	.	.	.	.	G	31	5.084112	0.94100	.	.	ENSG00000257335	ENST00000549489;ENST00000475668;ENST00000548812	D	0.92699	-3.09	5.55	5.55	0.83447	Glycoside hydrolase, superfamily (1);	0.000000	0.53938	D	0.000045	D	0.97739	0.9258	H	0.97783	4.075	0.44798	D	0.997804	D	0.89917	1.0	D	0.97110	1.0	D	0.98652	1.0680	10	0.87932	D	0	.	17.0425	0.86493	0.0:0.0:1.0:0.0	.	384	O43451	MGA_HUMAN	H	384;384;261	ENSP00000447378:R384H	ENSP00000316431:R261H	R	+	2	0	MGAM	141373934	1.000000	0.71417	0.871000	0.34182	0.734000	0.41952	9.176000	0.94839	2.885000	0.99019	0.655000	0.94253	CGT		0.453	MGAM-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000351244.3			8	81	0	0	0	0.047766	0	8	81					A	141727465	G	A	141727465	3	1	30	1	0	0	0	0	1	0	0	0	9541	1145	40	1	1185	1	MGAM	7	141727465	Missense_Mutation	SNP	G	TCGA-CH-5764-01A-21D-1576-08	34052750	141727465	17411198	28	1496											
CTAGE6P	340307	broad.mit.edu	37	chr7	143454287	143454291	+	Frame_Shift_Del	DEL	TTCTT	TTCTT	-																															tgagaatgtttagatttctcTtcttttaagtctttttctag																										TCGA-CH-5764-01A-21D-1576-08	TCGA-CH-5764-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df9acd7f-8875-4113-aba6-e89844ca6a43	fcc3c66f-f4b0-4cbc-add4-9f14713ef0eb	g.chr7:143454287_143454291delTTCTT	ENST00000470691.2	-	1	498_502	c.461_465delAAGAA	c.(460-465)aaagaafs	p.KE154fs	RNU6-267P_ENST00000516714.1_RNA	NM_178561.4	NP_848656.2	Q86UF2	CTGE6_HUMAN	CTAGE family, member 6	154						integral component of membrane (GO:0016021)						Melanoma(164;0.0903)					TAGATTTCTCTTCTTTTAAGTCTTT	0.376																																						ENST00000470691.2																			0											c.(460-465)afs		CTAGE family, member 6																																				SO:0001589	frameshift_variant	340307							g.chr7:143454287_143454291delTTCTT	BC043153	CCDS64790.1	7q35	2013-05-22	2013-02-25	2013-02-25	ENSG00000271321	ENSG00000271321			28644	protein-coding gene	gene with protein product			"CTAGE family, member 6, pseudogene"	CTAGE6P		12477932	Standard	NM_178561		Approved	MGC41943	uc003wdk.4	Q86UF2	OTTHUMG00000157770	ENST00000470691.2:c.461_465delAAGAA	7.37:g.143454287_143454291delTTCTT	ENSP00000474388:p.Lys154fs						p.KE154fs	NM_178561.4	NP_848656.2					1	498_502	-	Melanoma(164;0.0903)							A4FU29|Q3ZCM5	Frame_Shift_Del	DEL	ENST00000470691.2	37	c.461_465delAAGAA																																																																																					0.376	CTAGE6-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000349580.2	NM_178561		2	4						2	4	---	---	---	---	-	143454291	TTCTT	-	143454287	7	5	30	1	0	1	0	1	0	0	0	0	3995	1606	56	0	1872	0	CTAGE6P	7	143454287	Frame_Shift_Del	DEL	TTCTT	TCGA-CH-5764-01A-21D-1576-08	1726822	143454287	15684376	29	1497											
CDH17	1015	broad.mit.edu	37	chr8	95140541	95140541	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgcctttatccttctttatgCggataaacacaactgctaaa	12	14	5	10	1	1	0	0	0	1	0	2	1	2	1	2	1	5	1	2	1	7	7	rs201729274		TCGA-CH-5764-01A-21D-1576-08	TCGA-CH-5764-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df9acd7f-8875-4113-aba6-e89844ca6a43	fcc3c66f-f4b0-4cbc-add4-9f14713ef0eb	g.chr8:95140541C>T	ENST00000027335.3	-	18	2550	c.2426G>A	c.(2425-2427)cGc>cAc	p.R809H	CDH17_ENST00000441892.2_Missense_Mutation_p.R557H|CDH17_ENST00000450165.2_Missense_Mutation_p.R809H	NM_004063.3	NP_004054.3	Q12864	CAD17_HUMAN	cadherin 17, LI cadherin (liver-intestine)	809					calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|oligopeptide transmembrane transport (GO:0035672)|oligopeptide transport (GO:0006857)|transport (GO:0006810)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|proton-dependent oligopeptide secondary active transmembrane transporter activity (GO:0005427)|transporter activity (GO:0005215)	p.R809H(1)		NS(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(4)|stomach(2)	52	Breast(36;4.65e-06)		BRCA - Breast invasive adenocarcinoma(8;0.00691)			CTTCTTTATGCGGATAAACAC	0.323																																						ENST00000027335.3																			1	Substitution - Missense(1)	p.R809H(1)	prostate(1)	NS(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(4)|stomach(2)	52						c.(2425-2427)cGc>cAc		cadherin 17, LI cadherin (liver-intestine)							106	104	105					8																	95140541		2202	4299	6501	SO:0001583	missense	1015					integral to membrane	calcium ion binding	g.chr8:95140541C>T	X83228	CCDS6260.1	8q22.1	2010-01-26			ENSG00000079112	ENSG00000079112		"Cadherins / Major cadherins"	1756	protein-coding gene	gene with protein product		603017				9615235, 10191097	Standard	NM_004063		Approved	HPT-1, cadherin	uc003ygh.2	Q12864	OTTHUMG00000164391	ENST00000027335.3:c.2426G>A	8.37:g.95140541C>T	ENSP00000027335:p.Arg809His					CDH17_ENST00000441892.2_Missense_Mutation_p.R557H|CDH17_ENST00000450165.2_Missense_Mutation_p.R809H	p.R809H	NM_004063.3	NP_004054.3	Q12864	CAD17_HUMAN	BRCA - Breast invasive adenocarcinoma(8;0.00691)		18	2550	-	Breast(36;4.65e-06)		809					Q15336|Q2M2E0	Missense_Mutation	SNP	ENST00000027335.3	37	c.2426G>A	CCDS6260.1	.	.	.	.	.	.	.	.	.	.	C	14.16	2.451911	0.43531	.	.	ENSG00000079112	ENST00000027335;ENST00000441892;ENST00000450165	T;T;T	0.60299	0.31;0.2;0.31	5.63	3.84	0.44239	.	0.125208	0.36972	N	0.002309	T	0.41465	0.1160	N	0.21448	0.665	0.33556	D	0.596784	P;D	0.63046	0.453;0.992	B;P	0.44732	0.028;0.459	T	0.49978	-0.8881	10	0.19147	T	0.46	-2.6879	9.244	0.37513	0.0:0.832:0.0:0.168	.	557;809	E7EN24;Q12864	.;CAD17_HUMAN	H	809;557;809	ENSP00000027335:R809H;ENSP00000392811:R557H;ENSP00000401468:R809H	ENSP00000027335:R809H	R	-	2	0	CDH17	95209717	0.151000	0.22747	0.756000	0.31282	0.933000	0.57130	0.454000	0.21827	0.854000	0.35336	0.655000	0.94253	CGC		0.323	CDH17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378560.1	NM_004063		33	84	0	0	0	0.045705	0	33	84					T	95140541	C	T	95140541	3	4	30	1	0	0	0	0	1	0	0	0	3102	768	27	1	76	1	CDH17	8	95140541	Missense_Mutation	SNP	C	TCGA-CH-5764-01A-21D-1576-08		95140541	51223481	30	1498											
LINGO2	158038	broad.mit.edu	37	chr9	27949564	27949564	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	caaactgcagggtgggctgtCgctgcaagatccagagaagg	11	6	15	9	1	0	2	0	0	0	2	2	3	1	2	1	3	3	4	1	3	3	0			TCGA-CH-5764-01A-21D-1576-08	TCGA-CH-5764-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df9acd7f-8875-4113-aba6-e89844ca6a43	fcc3c66f-f4b0-4cbc-add4-9f14713ef0eb	g.chr9:27949564C>T	ENST00000379992.2	-	6	1555	c.1106G>A	c.(1105-1107)cGa>cAa	p.R369Q	LINGO2_ENST00000308675.3_Missense_Mutation_p.R369Q	NM_152570.2	NP_689783.1	Q7L985	LIGO2_HUMAN	leucine rich repeat and Ig domain containing 2	369	LRRCT.					integral component of membrane (GO:0016021)		p.R369Q(4)		autonomic_ganglia(1)|breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	44	Melanoma(11;0.242)	all_neural(11;2.78e-09)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0818)|GBM - Glioblastoma multiforme(2;1.31e-34)|all cancers(2;2.37e-25)|Lung(2;7.48e-08)|LUSC - Lung squamous cell carcinoma(38;5.09e-07)|KIRC - Kidney renal clear cell carcinoma(2;0.0465)|Kidney(2;0.0604)		GGTGGGCTGTCGCTGCAAGAT	0.547																																						ENST00000379992.2																			4	Substitution - Missense(4)	p.R369Q(4)	prostate(2)|kidney(2)	autonomic_ganglia(1)|breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	44						c.(1105-1107)cGa>cAa		leucine rich repeat and Ig domain containing 2							40	38	38					9																	27949564		2203	4300	6503	SO:0001583	missense	158038					integral to membrane		g.chr9:27949564C>T	AL353746	CCDS6524.1	9p21.2	2013-01-11	2007-02-01	2007-02-01	ENSG00000174482	ENSG00000174482		"Immunoglobulin superfamily / I-set domain containing"	21207	protein-coding gene	gene with protein product		609793	"leucine rich repeat neuronal 6C"	LRRN6C		14686891	Standard	NM_152570		Approved	LERN3	uc003zqu.2	Q7L985	OTTHUMG00000019721	ENST00000379992.2:c.1106G>A	9.37:g.27949564C>T	ENSP00000369328:p.Arg369Gln					LINGO2_ENST00000308675.3_Missense_Mutation_p.R369Q	p.R369Q	NM_152570.2	NP_689783.1	Q7L985	LIGO2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (5;0.0818)|GBM - Glioblastoma multiforme(2;1.31e-34)|all cancers(2;2.37e-25)|Lung(2;7.48e-08)|LUSC - Lung squamous cell carcinoma(38;5.09e-07)|KIRC - Kidney renal clear cell carcinoma(2;0.0465)|Kidney(2;0.0604)	6	1555	-	Melanoma(11;0.242)	all_neural(11;2.78e-09)	369			LRRCT.		A8K4K7|B2RPM5|Q6ZMD0	Missense_Mutation	SNP	ENST00000379992.2	37	c.1106G>A	CCDS6524.1	.	.	.	.	.	.	.	.	.	.	C	18.57	3.651762	0.67472	.	.	ENSG00000174482	ENST00000379992;ENST00000308675	T;T	0.58210	0.35;0.35	6.16	6.16	0.99307	Cysteine-rich flanking region, C-terminal (1);	0.050823	0.85682	D	0.000000	T	0.67692	0.2920	L	0.47190	1.495	0.58432	D	0.999996	D	0.89917	1.0	D	0.67103	0.949	T	0.60811	-0.7189	9	.	.	.	.	20.8598	0.99761	0.0:1.0:0.0:0.0	.	369	Q7L985	LIGO2_HUMAN	Q	369	ENSP00000369328:R369Q;ENSP00000310126:R369Q	.	R	-	2	0	LINGO2	27939564	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	3.694000	0.54742	2.937000	0.99478	0.650000	0.86243	CGA		0.547	LINGO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051978.2	NM_152570		14	61	0	0	0	0.132662	0	14	61					T	27949564	C	T	27949564	3	4	30	1	0	0	0	0	1	0	0	0	8815	884	31	2	718	2	LINGO2	9	27949564	Missense_Mutation	SNP	C	TCGA-CH-5764-01A-21D-1576-08		27949564	113263867	31	1499											
FAM108B1	51104	broad.mit.edu	37	chr9	74485071	74485071	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcattcccgaagtcagaggaGaatgaagaataacagcagca	17	5	11	8	1	1	4	1	1	0	3	2	6	2	4	1	1	3	3	1	1	5	2			TCGA-CH-5764-01A-21D-1576-08	TCGA-CH-5764-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df9acd7f-8875-4113-aba6-e89844ca6a43	fcc3c66f-f4b0-4cbc-add4-9f14713ef0eb	g.chr9:74485071G>A	ENST00000333421.6	-	3	686	c.575C>T	c.(574-576)tCt>tTt	p.S192F	ABHD17B_ENST00000377041.2_Missense_Mutation_p.S192F	NM_001025780.1	NP_001020951.1	Q5VST6	AB17B_HUMAN	abhydrolase domain containing 17B	192						extracellular region (GO:0005576)|membrane (GO:0016020)	hydrolase activity (GO:0016787)	p.S192F(1)									AGTCAGAGGAGAATGAAGAAT	0.408																																						ENST00000333421.6																			1	Substitution - Missense(1)	p.S192F(1)	prostate(1)								c.(574-576)tCt>tTt		abhydrolase domain containing 17B							161	147	152					9																	74485071		2203	4300	6503	SO:0001583	missense	51104							g.chr9:74485071G>A	AF151825	CCDS35042.1, CCDS35043.1	9q21.2	2013-03-15	2013-03-15	2013-03-15	ENSG00000107362	ENSG00000107362		"Abhydrolase domain containing"	24278	protein-coding gene	gene with protein product			"chromosome 9 open reading frame 77", "family with sequence similarity 108, member B1"	C9orf77, FAM108B1		10810093	Standard	XM_006717134		Approved	CGI-67	uc004ail.3	Q5VST6	OTTHUMG00000020001	ENST00000333421.6:c.575C>T	9.37:g.74485071G>A	ENSP00000330222:p.Ser192Phe					ABHD17B_ENST00000377041.2_Missense_Mutation_p.S192F	p.S192F	NM_001025780.1	NP_001020951.1					3	686	-								A8KAJ5|Q5VST7|Q86YB6|Q8IY03|Q9Y377	Missense_Mutation	SNP	ENST00000333421.6	37	c.575C>T	CCDS35043.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.223843	0.79576	.	.	ENSG00000107362	ENST00000377041;ENST00000333421	T;T	0.51071	0.72;0.72	5.34	4.44	0.53790	.	0.000000	0.85682	D	0.000000	T	0.81917	0.4924	H	0.99379	4.54	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.997	D	0.89533	0.3787	10	0.87932	D	0	-12.9451	14.1573	0.65426	0.0722:0.0:0.9278:0.0	.	192;192	Q5VST6;Q5VST6-2	F108B_HUMAN;.	F	192	ENSP00000366240:S192F;ENSP00000330222:S192F	ENSP00000330222:S192F	S	-	2	0	FAM108B1	73674891	1.000000	0.71417	1.000000	0.80357	0.814000	0.46013	9.669000	0.98622	1.395000	0.46643	0.655000	0.94253	TCT		0.408	ABHD17B-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000052625.1	NM_016014		74	225	0	0	0	0.139131	0	74	225					A	74485071	G	A	74485071	3	1	30	1	0	0	0	0	1	0	0	0	5392	942	33	3	330	3	FAM108B1	9	74485071	Missense_Mutation	SNP	G	TCGA-CH-5764-01A-21D-1576-08	46535507	74485071	66728360	32	1500											
TBC1D2	55357	broad.mit.edu	37	chr9	100995790	100995790	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ctggaggttcatggcctgttCcctgggcctgcttgttgcca	3	13	13	12	0	1	0	1	0	0	0	2	1	2	1	4	4	2	4	4	4	0	4			TCGA-CH-5764-01A-21D-1576-08	TCGA-CH-5764-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df9acd7f-8875-4113-aba6-e89844ca6a43	fcc3c66f-f4b0-4cbc-add4-9f14713ef0eb	g.chr9:100995790C>T	ENST00000375064.1	-	4	727	c.689G>A	c.(688-690)gGa>gAa	p.G230E	TBC1D2_ENST00000375066.5_Missense_Mutation_p.G230E|TBC1D2_ENST00000342112.5_Missense_Mutation_p.G12E	NM_001267571.1	NP_001254500.1	Q9BYX2	TBD2A_HUMAN	TBC1 domain family, member 2	230					positive regulation of Rab GTPase activity (GO:0032851)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)	cadherin binding (GO:0045296)|Rab GTPase activator activity (GO:0005097)	p.G230E(1)		breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;2.55e-37)		ATGGCCTGTTCCCTGGGCCTG	0.587																																						ENST00000375066.5																			1	Substitution - Missense(1)	p.G230E(1)	prostate(1)	breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24						c.(688-690)gGa>gAa		TBC1 domain family, member 2							205	186	192					9																	100995790		2203	4300	6503	SO:0001583	missense	55357					cell junction|cytoplasmic membrane-bounded vesicle|nucleus	Rab GTPase activator activity	g.chr9:100995790C>T	AY026527	CCDS35080.1, CCDS59137.1, CCDS75865.1	9q22.32	2011-11-30			ENSG00000095383	ENSG00000095383			18026	protein-coding gene	gene with protein product	"prostate antigen recognized and identified by SEREX"	609871					Standard	NM_018421		Approved	PARIS1, TBC1D2A, Armus	uc011lvb.2	Q9BYX2	OTTHUMG00000020343	ENST00000375064.1:c.689G>A	9.37:g.100995790C>T	ENSP00000364205:p.Gly230Glu					TBC1D2_ENST00000342112.5_Missense_Mutation_p.G12E|TBC1D2_ENST00000375064.1_Missense_Mutation_p.G230E	p.G230E	NM_018421.3	NP_060891.3	Q9BYX2	TBD2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(323;2.55e-37)	4	780	-		Myeloproliferative disorder(762;0.0255)	230					B3KWD1|B4DQ05|B9A6J7|Q59EU0|Q5TBQ5|Q6IPC7|Q7L1K8|Q8WYT1|Q9H6A2|Q9NSH4	Missense_Mutation	SNP	ENST00000375064.1	37	c.689G>A		.	.	.	.	.	.	.	.	.	.	C	1.561	-0.536683	0.04082	.	.	ENSG00000095383	ENST00000375064;ENST00000375066;ENST00000342112	T;T;T	0.06933	3.53;3.24;3.57	4.78	2.9	0.33743	.	0.228731	0.36303	N	0.002676	T	0.07999	0.0200	L	0.37750	1.13	0.21719	N	0.999574	B;P	0.36990	0.307;0.577	B;B	0.34301	0.037;0.179	T	0.10109	-1.0644	10	0.72032	D	0.01	.	13.4131	0.60954	0.0:0.6885:0.3115:0.0	.	230;230	Q9BYX2;Q9BYX2-2	TBD2A_HUMAN;.	E	230;230;12	ENSP00000364205:G230E;ENSP00000364207:G230E;ENSP00000341567:G12E	ENSP00000341567:G12E	G	-	2	0	TBC1D2	100035611	0.218000	0.23608	0.024000	0.17045	0.229000	0.25112	1.397000	0.34543	0.222000	0.20900	-0.795000	0.03280	GGA		0.587	TBC1D2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000053366.1	NM_018421		24	245	0	0	0	0.108266	0	24	245					T	100995790	C	T	100995790	3	4	30	1	0	0	0	0	1	0	0	0	15605	855	30	3	2104	3	TBC1D2	9	100995790	Missense_Mutation	SNP	C	TCGA-CH-5764-01A-21D-1576-08	26510719	100995790	40217641	33	1501											
TNC	3371	broad.mit.edu	37	chr9	117852969	117852969	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gggctgcggcacagccacagGcccggcgggggatgttgatg	6	5	19	11	3	0	1	0	1	0	0	0	2	0	2	2	6	2	3	2	6	0	1			TCGA-CH-5764-01A-21D-1576-08	TCGA-CH-5764-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df9acd7f-8875-4113-aba6-e89844ca6a43	fcc3c66f-f4b0-4cbc-add4-9f14713ef0eb	g.chr9:117852969G>T	ENST00000350763.4	-	2	740	c.329C>A	c.(328-330)gCc>gAc	p.A110D	TNC_ENST00000345230.3_Missense_Mutation_p.A110D|TNC_ENST00000537320.1_Missense_Mutation_p.A110D|TNC_ENST00000341037.4_Missense_Mutation_p.A110D|TNC_ENST00000340094.3_Missense_Mutation_p.A110D|TNC_ENST00000346706.3_Missense_Mutation_p.A110D|TNC_ENST00000535648.1_Missense_Mutation_p.A110D|TNC_ENST00000423613.2_Missense_Mutation_p.A110D|TNC_ENST00000542877.1_Missense_Mutation_p.A110D	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	110					bud outgrowth involved in lung branching (GO:0060447)|cell adhesion (GO:0007155)|cellular response to prostaglandin D stimulus (GO:0071799)|cellular response to retinoic acid (GO:0071300)|cellular response to vitamin D (GO:0071305)|extracellular matrix organization (GO:0030198)|mesenchymal-epithelial cell signaling involved in prostate gland development (GO:0060739)|negative regulation of cell adhesion (GO:0007162)|neuromuscular junction development (GO:0007528)|odontogenesis of dentin-containing tooth (GO:0042475)|osteoblast differentiation (GO:0001649)|peripheral nervous system axon regeneration (GO:0014012)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|prostate gland epithelium morphogenesis (GO:0060740)|response to ethanol (GO:0045471)|response to fibroblast growth factor (GO:0071774)|response to mechanical stimulus (GO:0009612)|response to wounding (GO:0009611)|wound healing (GO:0042060)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|interstitial matrix (GO:0005614)|membrane (GO:0016020)	syndecan binding (GO:0045545)	p.A110D(1)		NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						ACAGCCACAGGCCCGGCGGGG	0.587																																						ENST00000350763.4																			1	Substitution - Missense(1)	p.A110D(1)	prostate(1)	NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						c.(328-330)gCc>gAc		tenascin C							185	195	191					9																	117852969		2203	4300	6503	SO:0001583	missense	3371				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding	g.chr9:117852969G>T		CCDS6811.1	9q33.1	2014-01-28	2008-07-31	2002-06-07	ENSG00000041982	ENSG00000041982		"Fibrinogen C domain containing", "Fibronectin type III domain containing"	5318	protein-coding gene	gene with protein product	"hexabrachion (tenascin)"	187380	"hexabrachion (tenascin C, cytotactin)", "deafness, autosomal dominant 56"	HXB, DFNA56		1704365, 1707164, 23936043	Standard	NM_002160		Approved	TN, MGC167029	uc004bjj.4	P24821	OTTHUMG00000021010	ENST00000350763.4:c.329C>A	9.37:g.117852969G>T	ENSP00000265131:p.Ala110Asp					TNC_ENST00000542877.1_Missense_Mutation_p.A110D|TNC_ENST00000340094.3_Missense_Mutation_p.A110D|TNC_ENST00000537320.1_Missense_Mutation_p.A110D|TNC_ENST00000423613.2_Missense_Mutation_p.A110D|TNC_ENST00000535648.1_Missense_Mutation_p.A110D|TNC_ENST00000341037.4_Missense_Mutation_p.A110D|TNC_ENST00000345230.3_Missense_Mutation_p.A110D|TNC_ENST00000346706.3_Missense_Mutation_p.A110D	p.A110D	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN			2	740	-			110					C9IYT7|C9J575|C9J6D9|C9J848|Q14583|Q15567|Q5T7S3	Missense_Mutation	SNP	ENST00000350763.4	37	c.329C>A	CCDS6811.1	.	.	.	.	.	.	.	.	.	.	G	35	5.441192	0.96187	.	.	ENSG00000041982	ENST00000340094;ENST00000535648;ENST00000346706;ENST00000345230;ENST00000350763;ENST00000442945;ENST00000341037;ENST00000423613;ENST00000537320;ENST00000542877	T;T;T;T;T;T;T;T;T	0.35973	1.28;1.28;1.28;1.28;1.28;1.28;1.28;1.28;1.28	5.84	5.84	0.93424	.	0.000000	0.85682	D	0.000000	T	0.54464	0.1860	L	0.41710	1.295	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.53816	-0.8385	10	0.87932	D	0	.	19.1047	0.93290	0.0:0.0:1.0:0.0	.	110;110	E9PC84;P24821	.;TENA_HUMAN	D	110	ENSP00000344400:A110D;ENSP00000438152:A110D;ENSP00000344555:A110D;ENSP00000345861:A110D;ENSP00000265131:A110D;ENSP00000339553:A110D;ENSP00000411406:A110D;ENSP00000443478:A110D;ENSP00000442242:A110D	ENSP00000344400:A110D	A	-	2	0	TNC	116892790	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	9.869000	0.99810	2.746000	0.94184	0.655000	0.94253	GCC		0.587	TNC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055418.2	NM_002160		64	531	1	0	9.42754e-34	0.139131	1.18218e-33	64	531					T	117852969	G	T	117852969	3	4	30	1	0	0	0	0	1	0	0	0	16267	1203	42	5	6384	5	TNC	9	117852969	Missense_Mutation	SNP	G	TCGA-CH-5764-01A-21D-1576-08	16857179	117852969	23360462	34	1502											
NUCB2	4925	broad.mit.edu	37	chr11	17332484	17332484	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aaaaacattgaatgaagaaaAgagaaaagaagaagagtcta	25	5	9	2	0	1	7	0	2	1	5	1	8	1	7	0	0	1	0	0	0	11	2			TCGA-CH-5764-01A-21D-1576-08	TCGA-CH-5764-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df9acd7f-8875-4113-aba6-e89844ca6a43	fcc3c66f-f4b0-4cbc-add4-9f14713ef0eb	g.chr11:17332484A>C	ENST00000529010.1	+	7	815	c.596A>C	c.(595-597)aAg>aCg	p.K199T	NUCB2_ENST00000323688.6_Missense_Mutation_p.K199T|NUCB2_ENST00000458064.2_Missense_Mutation_p.K199T	NM_005013.2	NP_005004	P80303	NUCB2_HUMAN	nucleobindin 2	199						cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nuclear outer membrane (GO:0005640)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)	p.K199T(1)		kidney(1)|large_intestine(2)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14						AATGAAGAAAAGAGAAAAGAA	0.303																																						ENST00000529010.1																			1	Substitution - Missense(1)	p.K199T(1)	prostate(1)	kidney(1)|large_intestine(2)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14						c.(595-597)aAg>aCg		nucleobindin 2							71	73	72					11																	17332484		1792	4035	5827	SO:0001583	missense	4925					cytosol|ER-Golgi intermediate compartment|extracellular space|Golgi apparatus|plasma membrane	calcium ion binding|DNA binding	g.chr11:17332484A>C	AF052642	CCDS41623.1	11p15.1	2013-01-10						"EF-hand domain containing"	8044	protein-coding gene	gene with protein product		608020				7811391	Standard	NM_005013		Approved	NEFA	uc001mmw.3	P80303		ENST00000529010.1:c.596A>C	11.37:g.17332484A>C	ENSP00000436455:p.Lys199Thr					NUCB2_ENST00000323688.6_Missense_Mutation_p.K199T|NUCB2_ENST00000458064.2_Missense_Mutation_p.K199T	p.K199T	NM_005013.2	NP_005004.1	P80303	NUCB2_HUMAN			7	815	+			199					A8K642|D3DQX5|Q8NFT5	Missense_Mutation	SNP	ENST00000529010.1	37	c.596A>C	CCDS41623.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	23.6|23.6	4.441275|4.441275	0.83993|0.83993	.|.	.|.	ENSG00000070081|ENSG00000070081	ENST00000527580|ENST00000323688;ENST00000529010;ENST00000458064	.|T;T;T	.|0.19394	.|2.15;2.15;2.15	5.93|5.93	5.93|5.93	0.95920|0.95920	.|.	0.093142|0.093142	0.85682|0.85682	D|D	0.000000|0.000000	T|T	0.44850|0.44850	0.1313|0.1313	M|M	0.62723|0.62723	1.935|1.935	0.54753|0.54753	D|D	0.999989|0.999989	.|D;D;D	.|0.89917	.|1.0;0.999;0.999	.|D;D;D	.|0.74023	.|0.982;0.953;0.953	T|T	0.30416|0.30416	-0.9979|-0.9979	6|10	.|0.54805	.|T	.|0.06	-18.6833|-18.6833	16.3721|16.3721	0.83368|0.83368	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|199;199;199	.|E7EV42;P80303;D3DQX5	.|.;NUCB2_HUMAN;.	N|T	6|199	.|ENSP00000320168:K199T;ENSP00000436455:K199T;ENSP00000408702:K199T	.|ENSP00000320168:K199T	K|K	+|+	3|2	2|0	NUCB2|NUCB2	17289060|17289060	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.991000|0.991000	0.79684|0.79684	5.352000|5.352000	0.66028|0.66028	2.257000|2.257000	0.74773|0.74773	0.533000|0.533000	0.62120|0.62120	AAA|AAG		0.303	NUCB2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000387614.2	NM_005013		6	299	0	0	0	0.021553	0	6	299					C	17332484	A	C	17332484	3	2	30	1	0	0	0	0	1	0	0	0	10719	72	3	5	614	5	NUCB2	11	17332484	Missense_Mutation	SNP	A	TCGA-CH-5764-01A-21D-1576-08		17332484	117674032	35	1503											
OR5T1	390155	broad.mit.edu	37	chr11	56043514	56043514	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggctgcaatggcttatgatCgctatgtagccatctacaac	10	12	9	10	1	1	1	0	1	1	0	2	1	1	1	1	2	4	5	1	2	6	4	rs371059328		TCGA-CH-5764-01A-21D-1576-08	TCGA-CH-5764-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df9acd7f-8875-4113-aba6-e89844ca6a43	fcc3c66f-f4b0-4cbc-add4-9f14713ef0eb	g.chr11:56043514C>A	ENST00000313033.2	+	1	486	c.400C>A	c.(400-402)Cgc>Agc	p.R134S		NM_001004745.1	NP_001004745.1	Q8NG75	OR5T1_HUMAN	olfactory receptor, family 5, subfamily T, member 1	134						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R134S(1)		NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(27)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	43	Esophageal squamous(21;0.00448)					GGCTTATGATCGCTATGTAGC	0.413																																						ENST00000313033.2																			1	Substitution - Missense(1)	p.R134S(1)	prostate(1)	NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(27)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	43						c.(400-402)Cgc>Agc		olfactory receptor, family 5, subfamily T, member 1		C	SER/ARG	0,4402		0,0,2201	215	187	197		400	1.5	0.1	11		197	1,8587	1.2+/-3.3	0,1,4293	no	missense	OR5T1	NM_001004745.1	110	0,1,6494	AA,AC,CC		0.0116,0.0,0.0077	probably-damaging	134/327	56043514	1,12989	2201	4294	6495	SO:0001583	missense	390155				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56043514C>A	AB065962	CCDS31525.1	11q11	2012-08-09		2004-03-10	ENSG00000181698	ENSG00000181698		"GPCR / Class A : Olfactory receptors"	14821	protein-coding gene	gene with protein product				OR5T1P			Standard	NM_001004745		Approved		uc001nio.1	Q8NG75	OTTHUMG00000166853	ENST00000313033.2:c.400C>A	11.37:g.56043514C>A	ENSP00000323612:p.Arg134Ser						p.R134S	NM_001004745.1	NP_001004745.1	Q8NG75	OR5T1_HUMAN			1	486	+	Esophageal squamous(21;0.00448)		134					B2RNM9	Missense_Mutation	SNP	ENST00000313033.2	37	c.400C>A	CCDS31525.1	.	.	.	.	.	.	.	.	.	.	C	17.46	3.394021	0.62066	0.0	1.16E-4	ENSG00000181698	ENST00000313033	T	0.77620	-1.11	3.44	1.52	0.23074	GPCR, rhodopsin-like superfamily (1);	0.000000	0.51477	D	0.000086	D	0.89040	0.6602	H	0.97983	4.12	0.28013	N	0.934839	D	0.53885	0.963	P	0.56916	0.809	T	0.83072	-0.0142	10	0.87932	D	0	.	8.4451	0.32836	0.0:0.798:0.0:0.202	.	134	Q8NG75	OR5T1_HUMAN	S	134	ENSP00000323612:R134S	ENSP00000323612:R134S	R	+	1	0	OR5T1	55800090	0.364000	0.24997	0.077000	0.20336	0.970000	0.65996	1.004000	0.29822	0.286000	0.22352	0.465000	0.42564	CGC		0.413	OR5T1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391600.1	NM_001004745		46	444	1	0	2.47872e-24	0.117977	3.05968e-24	46	444					A	56043514	C	A	56043514	3	1	30	1	0	0	0	0	1	0	0	0	11181	884	31	5	402	5	OR5T1	11	56043514	Missense_Mutation	SNP	C	TCGA-CH-5764-01A-21D-1576-08	38711030	56043514	78963002	36	1504											
C12orf35	55196	broad.mit.edu	37	chr12	32135028	32135028	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggattcttgcaatccaacttCaaatcaagtactggacacaa	15	10	6	10	0	3	0	2	0	1	0	4	2	4	2	1	2	3	2	1	2	6	4			TCGA-CH-5764-01A-21D-1576-08	TCGA-CH-5764-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df9acd7f-8875-4113-aba6-e89844ca6a43	fcc3c66f-f4b0-4cbc-add4-9f14713ef0eb	g.chr12:32135028C>A	ENST00000312561.4	+	4	1553	c.1139C>A	c.(1138-1140)tCa>tAa	p.S380*	KIAA1551_ENST00000535596.1_Intron	NM_018169.3	NP_060639	Q9HCM1	K1551_HUMAN	KIAA1551	380								p.S380*(1)									AATCCAACTTCAAATCAAGTA	0.348																																						ENST00000312561.4																			1	Substitution - Nonsense(1)	p.S380*(1)	prostate(1)								c.(1138-1140)tCa>tAa		KIAA1551							73	80	78					12																	32135028		2203	4300	6503	SO:0001587	stop_gained	55196							g.chr12:32135028C>A	AK001514	CCDS8725.2	12p11.21	2012-08-14	2012-08-14	2012-08-14	ENSG00000174718	ENSG00000174718			25559	protein-coding gene	gene with protein product			"chromosome 12 open reading frame 35"	C12orf35		10997877	Standard	NM_018169		Approved	FLJ20696, FLJ10652	uc001rks.3	Q9HCM1	OTTHUMG00000128501	ENST00000312561.4:c.1139C>A	12.37:g.32135028C>A	ENSP00000310338:p.Ser380*					KIAA1551_ENST00000535596.1_Intron	p.S380*	NM_018169.3	NP_060639.3					4	1553	+								B2RTU5|Q4KN17|Q9NVL6|Q9NWP9	Nonsense_Mutation	SNP	ENST00000312561.4	37	c.1139C>A	CCDS8725.2	.	.	.	.	.	.	.	.	.	.	C	40	8.372704	0.98781	.	.	ENSG00000174718	ENST00000312561;ENST00000381054	.	.	.	5.02	4.12	0.48240	.	0.835561	0.10212	N	0.702031	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.0536	0.14522	0.0:0.6467:0.1888:0.1645	.	.	.	.	X	380	.	.	S	+	2	0	C12orf35	32026295	0.001000	0.12720	0.062000	0.19696	0.757000	0.42996	0.519000	0.22862	2.484000	0.83849	0.455000	0.32223	TCA		0.348	KIAA1551-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250307.2	NM_018169		5	212	1	0	0.0293803	0.02938	0.0317952	5	212					A	32135028	C	A	32135028	4	1	30	1	0	0	0	0	0	1	0	0	1682	838	29	5	1141	5	C12orf35	12	32135028	Nonsense_Mutation	SNP	C	TCGA-CH-5764-01A-21D-1576-08		32135028	101716867	37	1505											
TMEM5	10329	broad.mit.edu	37	chr12	64173824	64173824	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tacgctgcctaccacgtcttCttcgggcgccgccgccaggc	4	8	11	18	6	2	0	0	0	2	0	3	0	2	0	5	2	3	1	5	2	2	4	rs200123669		TCGA-CH-5764-01A-21D-1576-08	TCGA-CH-5764-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df9acd7f-8875-4113-aba6-e89844ca6a43	fcc3c66f-f4b0-4cbc-add4-9f14713ef0eb	g.chr12:64173824C>T	ENST00000261234.6	+	1	242	c.84C>T	c.(82-84)ttC>ttT	p.F28F	RP11-415I12.3_ENST00000509615.2_RNA|TMEM5_ENST00000537373.1_5'Flank	NM_014254.1	NP_055069.1	Q9Y2B1	TMEM5_HUMAN	transmembrane protein 5	28						integral component of plasma membrane (GO:0005887)		p.F28F(1)		breast(1)|large_intestine(3)|liver(2)|lung(7)|prostate(1)|skin(1)	15		Myeloproliferative disorder(1001;0.0255)	BRCA - Breast invasive adenocarcinoma(9;0.0985)	GBM - Glioblastoma multiforme(28;9e-08)|BRCA - Breast invasive adenocarcinoma(357;0.000175)		ACCACGTCTTCTTcgggcgcc	0.716													C|||	1	0.000199681	8e-04	0	5008	,	,		8951	0		0	False		,,,				2504	0					ENST00000261234.6																			1	Substitution - coding silent(1)	p.F28F(1)	prostate(1)	breast(1)|large_intestine(3)|liver(2)|lung(7)|prostate(1)|skin(1)	15						c.(82-84)ttC>ttT		transmembrane protein 5		C		1,4401	2.1+/-5.4	0,1,2200	33	32	32		84	-0.9	1	12		32	0,8600		0,0,4300	no	coding-synonymous	TMEM5	NM_014254.1		0,1,6500	TT,TC,CC		0.0,0.0227,0.0077		28/444	64173824	1,13001	2201	4300	6501	SO:0001819	synonymous_variant	10329					integral to plasma membrane		g.chr12:64173824C>T	AB015633	CCDS8966.1, CCDS61179.1	12q14.1	2013-05-07			ENSG00000118600	ENSG00000118600			13530	protein-coding gene	gene with protein product		605862				10072769, 23217329	Standard	NM_014254		Approved	HP10481	uc001srq.2	Q9Y2B1	OTTHUMG00000168730	ENST00000261234.6:c.84C>T	12.37:g.64173824C>T						RP11-415I12.3_ENST00000509615.2_RNA	p.F28F	NM_014254.1	NP_055069.1	Q9Y2B1	TMEM5_HUMAN	BRCA - Breast invasive adenocarcinoma(9;0.0985)	GBM - Glioblastoma multiforme(28;9e-08)|BRCA - Breast invasive adenocarcinoma(357;0.000175)	1	242	+		Myeloproliferative disorder(1001;0.0255)	28					A8K017|Q6PKD6	Silent	SNP	ENST00000261234.6	37	c.84C>T	CCDS8966.1																																																																																				0.716	TMEM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400821.1	NM_014254		3	29	0	0	0	0.009096	0	3	29					T	64173824	C	T	64173824	2	4	30	1	0	0	0	0	0	0	0	1	16171	912	32	3		3	TMEM5	12	64173824	Silent	SNP	C	TCGA-CH-5764-01A-21D-1576-08	32038796	64173824	69678071	38	1506											
TBC1D15	64786	broad.mit.edu	37	chr12	72288542	72288542	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctacatttttgacagtttgaGaggcagcgatccctctacac	10	12	8	11	1	1	2	0	2	1	1	2	4	2	2	1	1	3	2	1	1	2	5			TCGA-CH-5764-01A-21D-1576-08	TCGA-CH-5764-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df9acd7f-8875-4113-aba6-e89844ca6a43	fcc3c66f-f4b0-4cbc-add4-9f14713ef0eb	g.chr12:72288542G>A	ENST00000550746.1	+	8	849	c.785G>A	c.(784-786)aGa>aAa	p.R262K	TBC1D15_ENST00000319106.8_Missense_Mutation_p.R253K|TBC1D15_ENST00000393309.3_Missense_Mutation_p.R16K|TBC1D15_ENST00000485960.2_Missense_Mutation_p.R245K	NM_001146213.1|NM_022771.4	NP_001139685.2|NP_073608.4	Q8TC07	TBC15_HUMAN	TBC1 domain family, member 15	262					positive regulation of Rab GTPase activity (GO:0032851)|regulation of Rab GTPase activity (GO:0032313)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	Rab GTPase activator activity (GO:0005097)	p.R262K(1)		NS(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						GACAGTTTGAGAGGCAGCGAT	0.368																																						ENST00000550746.1																			1	Substitution - Missense(1)	p.R262K(1)	prostate(1)	NS(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						c.(784-786)aGa>aAa		TBC1 domain family, member 15							92	92	92					12																	72288542		2203	4298	6501	SO:0001583	missense	64786						protein binding|Rab GTPase activator activity	g.chr12:72288542G>A	AL157464	CCDS31858.1, CCDS53814.1, CCDS55849.1	12q15	2013-07-09			ENSG00000121749	ENSG00000121749			25694	protein-coding gene	gene with protein product		612662				16055087	Standard	NM_022771		Approved	FLJ12085, DKFZp761D0223	uc001swu.3	Q8TC07	OTTHUMG00000158553	ENST00000550746.1:c.785G>A	12.37:g.72288542G>A	ENSP00000448182:p.Arg262Lys					TBC1D15_ENST00000485960.2_Missense_Mutation_p.R245K|TBC1D15_ENST00000319106.8_Missense_Mutation_p.R253K|TBC1D15_ENST00000393309.3_Missense_Mutation_p.R16K	p.R262K	NM_001146213.1|NM_022771.4	NP_001139685.2|NP_073608.4	Q8TC07	TBC15_HUMAN			8	849	+			262					B4DMT9|B9A6L6|J3KNI9|Q9HA83	Missense_Mutation	SNP	ENST00000550746.1	37	c.785G>A	CCDS31858.1	.	.	.	.	.	.	.	.	.	.	G	31	5.085007	0.94100	.	.	ENSG00000121749	ENST00000550746;ENST00000491063;ENST00000319106;ENST00000485960;ENST00000393309	T;T;T;T	0.08008	3.4;3.39;3.39;3.14	5.26	5.26	0.73747	.	0.000000	0.85682	D	0.000000	T	0.15435	0.0372	L	0.54323	1.7	0.51012	D	0.999903	P;P;P	0.45768	0.835;0.866;0.824	B;P;B	0.48901	0.254;0.594;0.197	T	0.08889	-1.0700	10	0.13470	T	0.59	-15.9039	18.9119	0.92489	0.0:0.0:1.0:0.0	.	253;245;262	E9PH93;Q8TC07-2;Q8TC07	.;.;TBC15_HUMAN	K	262;146;253;245;16	ENSP00000448182:R262K;ENSP00000318262:R253K;ENSP00000420678:R245K;ENSP00000376986:R16K	ENSP00000318262:R253K	R	+	2	0	TBC1D15	70574809	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.799000	0.99117	2.472000	0.83506	0.580000	0.79431	AGA		0.368	TBC1D15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000351266.2	NM_022771		5	200	0	0	0	0.014758	0	5	200					A	72288542	G	A	72288542	3	1	30	1	0	0	0	0	1	0	0	0	15601	942	33	3	939	3	TBC1D15	12	72288542	Missense_Mutation	SNP	G	TCGA-CH-5764-01A-21D-1576-08	8114718	72288542	61563353	39	1507											
CEP290	80184	broad.mit.edu	37	chr12	88487642	88487642	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tttttgacaatgttcagcccGctgcctttcatttaattcct	7	18	5	11	1	2	1	2	1	0	0	3	1	3	1	3	0	2	2	3	0	2	7			TCGA-CH-5764-01A-21D-1576-08	TCGA-CH-5764-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df9acd7f-8875-4113-aba6-e89844ca6a43	fcc3c66f-f4b0-4cbc-add4-9f14713ef0eb	g.chr12:88487642G>A	ENST00000552810.1	-	28	3557	c.3214C>T	c.(3214-3216)Cgg>Tgg	p.R1072W	CEP290_ENST00000309041.7_Missense_Mutation_p.R1074W|CEP290_ENST00000547691.2_Missense_Mutation_p.R132W|CEP290_ENST00000397838.3_Missense_Mutation_p.R132W	NM_025114.3	NP_079390.3	O15078	CE290_HUMAN	centrosomal protein 290kDa	1072					cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|establishment or maintenance of cell polarity (GO:0007163)|eye photoreceptor cell development (GO:0042462)|G2/M transition of mitotic cell cycle (GO:0000086)|hindbrain development (GO:0030902)|mitotic cell cycle (GO:0000278)|otic vesicle formation (GO:0030916)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of transcription, DNA-templated (GO:0045893)|pronephros development (GO:0048793)|protein transport (GO:0015031)|regulation of cAMP metabolic process (GO:0030814)|regulation of establishment of protein localization (GO:0070201)|retina development in camera-type eye (GO:0060041)	centriolar satellite (GO:0034451)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|photoreceptor connecting cilium (GO:0032391)|protein complex (GO:0043234)|TCTN-B9D complex (GO:0036038)		p.R1074W(1)|p.R1072W(1)		breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|liver(1)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	73						TGTTCAGCCCGCTGCCTTTCA	0.348																																						ENST00000552810.1																			2	Substitution - Missense(2)	p.R1074W(1)|p.R1072W(1)	prostate(2)	breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|liver(1)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	73						c.(3214-3216)Cgg>Tgg		centrosomal protein 290kDa							77	74	75					12																	88487642		1845	4088	5933	SO:0001583	missense	80184				cilium assembly|eye photoreceptor cell development|G2/M transition of mitotic cell cycle|hindbrain development|otic vesicle formation|positive regulation of transcription, DNA-dependent|pronephros development|protein transport	cell surface|centrosome|cytosol|nucleus|photoreceptor connecting cilium	protein binding	g.chr12:88487642G>A	AB002371	CCDS55858.1	12q21.33	2014-09-17				ENSG00000198707			29021	protein-coding gene	gene with protein product	"Joubert syndrome 5", "nephrocystin-6", "cancer/testis antigen 87", "POC3 centriolar protein homolog (Chlamydomonas)", "Meckel syndrome, type 4"	610142				15474516, 16682973, 16632484	Standard	NM_025114		Approved	KIAA0373, FLJ13615, 3H11Ag, rd16, NPHP6, JBTS5, SLSN6, LCA10, MKS4, BBS14, CT87, POC3	uc001tar.3	O15078		ENST00000552810.1:c.3214C>T	12.37:g.88487642G>A	ENSP00000448012:p.Arg1072Trp					CEP290_ENST00000547691.2_Missense_Mutation_p.R132W|CEP290_ENST00000309041.7_Missense_Mutation_p.R1074W|CEP290_ENST00000397838.3_Missense_Mutation_p.R132W	p.R1072W	NM_025114.3	NP_079390.3	O15078	CE290_HUMAN			28	3557	-			1072					Q1PSK5|Q66GS8|Q9H2G6|Q9H6Q7|Q9H8I0	Missense_Mutation	SNP	ENST00000552810.1	37	c.3214C>T	CCDS55858.1	.	.	.	.	.	.	.	.	.	.	G	18.19	3.569788	0.65765	.	.	ENSG00000198707	ENST00000547691;ENST00000552810;ENST00000309041;ENST00000397838	T;T;T;T	0.76968	-0.74;-1.06;-1.06;-0.74	5.66	2.53	0.30540	.	0.000000	0.85682	D	0.000000	D	0.86306	0.5901	M	0.68952	2.095	0.40773	D	0.983107	D	0.89917	1.0	D	0.97110	1.0	D	0.87022	0.2129	10	0.72032	D	0.01	.	16.0588	0.80822	0.0:0.0:0.2815:0.7185	.	1072	O15078	CE290_HUMAN	W	132;1072;1074;132	ENSP00000446905:R132W;ENSP00000448012:R1072W;ENSP00000308021:R1074W;ENSP00000380938:R132W	ENSP00000308021:R1074W	R	-	1	2	CEP290	87011773	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	2.481000	0.45215	0.178000	0.19917	-0.470000	0.05040	CGG		0.348	CEP290-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000406344.1	NM_025114		3	78	0	0	0	0.115264	0	3	78					A	88487642	G	A	88487642	3	1	30	1	0	0	0	0	1	0	0	0	3253	1086	38	1	4333	1	CEP290	12	88487642	Missense_Mutation	SNP	G	TCGA-CH-5764-01A-21D-1576-08	16199100	88487642	45364253	40	1508											
BRCA2	675	broad.mit.edu	37	chr13	32912796	32912796	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcagactgcaagtgggaaaaAtattagtgtcgccaaagagt	15	9	11	6	1	1	2	1	0	0	2	2	3	1	3	1	1	1	1	1	1	6	2			TCGA-CH-5764-01A-21D-1576-08	TCGA-CH-5764-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df9acd7f-8875-4113-aba6-e89844ca6a43	fcc3c66f-f4b0-4cbc-add4-9f14713ef0eb	g.chr13:32912796A>C	ENST00000380152.3	+	11	4537	c.4304A>C	c.(4303-4305)aAt>aCt	p.N1435T	BRCA2_ENST00000544455.1_Missense_Mutation_p.N1435T			P51587	BRCA2_HUMAN	breast cancer 2, early onset	1435	Interaction with POLH.|Required for stimulation of POLH DNA polymerization activity.				brain development (GO:0007420)|cell aging (GO:0007569)|centrosome duplication (GO:0051298)|cytokinesis (GO:0000910)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|female gonad development (GO:0008585)|hemopoiesis (GO:0030097)|histone H3 acetylation (GO:0043966)|histone H4 acetylation (GO:0043967)|inner cell mass cell proliferation (GO:0001833)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|male meiosis I (GO:0007141)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|nucleotide-excision repair (GO:0006289)|oocyte maturation (GO:0001556)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cytokinesis (GO:0032465)|replication fork protection (GO:0048478)|response to gamma radiation (GO:0010332)|response to UV-C (GO:0010225)|response to X-ray (GO:0010165)|spermatogenesis (GO:0007283)	BRCA2-MAGE-D1 complex (GO:0033593)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)|secretory granule (GO:0030141)	gamma-tubulin binding (GO:0043015)|H3 histone acetyltransferase activity (GO:0010484)|H4 histone acetyltransferase activity (GO:0010485)|protease binding (GO:0002020)|single-stranded DNA binding (GO:0003697)	p.N1435T(3)		NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		AGTGGGAAAAATATTAGTGTC	0.284			"D, Mis, N, F, S"		"breast, ovarian, pancreatic"	"breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)																											Esophageal Squamous(138;838 1285 7957 30353 30468 36915 49332)	ENST00000544455.1			yes	Rec	yes	Hereditary breast/ovarian cancer	13	13q12	675	"D, Mis, N, F, S"	familial breast/ovarian cancer gene 2			"L, E"		"breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"	"breast, ovarian, pancreatic"		3	Substitution - Missense(3)	p.N1435T(3)	prostate(3)	NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183						c.(4303-4305)aAt>aCt	Homologous recombination	breast cancer 2, early onset							58	70	66					13																	32912796		2184	4280	6464	SO:0001583	missense	675	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	Familial Cancer Database	incl.: Hereditary Pancreatic Adenocarcinoma, Insulin-Dependent Diabetes Mellitus - Exocrine Insufficiency - Familial Pancreatic Cancer, PNCA1;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;HPC; ;FANCD1;Pancytopenia Dysmelia, FA (several complementation groups)	cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding	g.chr13:32912796A>C	U43746	CCDS9344.1	13q12-q13	2014-09-17	2003-10-14		ENSG00000139618	ENSG00000139618		"Fanconi anemia, complementation groups"	1101	protein-coding gene	gene with protein product	"BRCA1/BRCA2-containing complex, subunit 2"	600185	"Fanconi anemia, complementation group D1"	FANCD1, FACD, FANCD		8091231, 7581463, 15057823	Standard	NM_000059		Approved	FAD, FAD1, BRCC2	uc001uub.1	P51587	OTTHUMG00000017411	ENST00000380152.3:c.4304A>C	13.37:g.32912796A>C	ENSP00000369497:p.Asn1435Thr	TCGA Ovarian(8;0.087)				BRCA2_ENST00000380152.3_Missense_Mutation_p.N1435T	p.N1435T	NM_000059.3	NP_000050.2	P51587	BRCA2_HUMAN		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)	11	4531	+		Lung SC(185;0.0262)	1435					O00183|O15008|Q13879|Q5TBJ7	Missense_Mutation	SNP	ENST00000380152.3	37	c.4304A>C	CCDS9344.1	.	.	.	.	.	.	.	.	.	.	A	12.53	1.965784	0.34659	.	.	ENSG00000139618	ENST00000380152;ENST00000544455	T;T	0.76060	-0.99;-0.99	5.95	4.75	0.60458	.	0.246394	0.36034	N	0.002835	T	0.81631	0.4863	M	0.66939	2.045	0.28571	N	0.910629	D	0.58268	0.982	P	0.59825	0.864	T	0.76887	-0.2793	10	0.51188	T	0.08	.	12.2947	0.54838	0.8581:0.1419:0.0:0.0	.	1435	P51587	BRCA2_HUMAN	T	1435	ENSP00000369497:N1435T;ENSP00000439902:N1435T	ENSP00000369497:N1435T	N	+	2	0	BRCA2	31810796	1.000000	0.71417	0.894000	0.35097	0.063000	0.16089	6.179000	0.71974	1.048000	0.40298	0.460000	0.39030	AAT		0.284	BRCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046000.2	NM_000059		26	237	0	0	0	0.0918	0	26	237					C	32912796	A	C	32912796	3	2	30	1	0	0	0	0	1	0	0	0	1499	101	4	5	4342	5	BRCA2	13	32912796	Missense_Mutation	SNP	A	TCGA-CH-5764-01A-21D-1576-08		32912796	82257082	41	1509											
MYH6	4624	broad.mit.edu	37	chr14	23866411	23866411	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gctcattggggatgatgcaaCgcacaaagtgaggatgggtg	11	8	16	6	1	1	2	1	2	0	0	1	4	1	4	0	4	2	3	0	4	2	1			TCGA-CH-5764-01A-21D-1576-08	TCGA-CH-5764-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df9acd7f-8875-4113-aba6-e89844ca6a43	fcc3c66f-f4b0-4cbc-add4-9f14713ef0eb	g.chr14:23866411C>T	ENST00000356287.3	-	16	2047	c.2018G>A	c.(2017-2019)cGt>cAt	p.R673H	MYH6_ENST00000405093.3_Missense_Mutation_p.R673H			P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	673	Actin-binding.|Myosin motor.				adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|atrial cardiac muscle tissue morphogenesis (GO:0055009)|BMP signaling pathway (GO:0030509)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle fiber development (GO:0048739)|in utero embryonic development (GO:0001701)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|myofibril assembly (GO:0030239)|regulation of ATPase activity (GO:0043462)|regulation of blood pressure (GO:0008217)|regulation of heart contraction (GO:0008016)|regulation of heart growth (GO:0060420)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|sarcomere organization (GO:0045214)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visceral muscle development (GO:0007522)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin complex (GO:0016459)|myosin filament (GO:0032982)|nucleus (GO:0005634)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|protein kinase binding (GO:0019901)	p.R673H(1)		breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		GATGATGCAACGCACAAAGTG	0.542																																						ENST00000405093.3																			1	Substitution - Missense(1)	p.R673H(1)	prostate(1)	breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119						c.(2017-2019)cGt>cAt		myosin, heavy chain 6, cardiac muscle, alpha							167	159	161					14																	23866411		2203	4300	6503	SO:0001583	missense	4624				adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle	g.chr14:23866411C>T	D00943	CCDS9600.1	14q11.2-q13	2014-09-17	2008-08-01		ENSG00000197616	ENSG00000197616		"Myosins / Myosin superfamily : Class II"	7576	protein-coding gene	gene with protein product	"cardiomyopathy, hypertrophic 1"	160710	"myosin, heavy polypeptide 6, cardiac muscle, alpha (cardiomyopathy, hypertrophic 1)"			2144212	Standard	NM_002471		Approved		uc001wjv.3	P13533	OTTHUMG00000028753	ENST00000356287.3:c.2018G>A	14.37:g.23866411C>T	ENSP00000348634:p.Arg673His					MYH6_ENST00000356287.3_Missense_Mutation_p.R673H	p.R673H	NM_002471.3	NP_002462.2	P13533	MYH6_HUMAN		GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)	17	2088	-	all_cancers(95;2.54e-05)		673			Actin-binding.|Myosin head-like.		A2RTX1|D9YZU2|Q13943|Q14906|Q14907	Missense_Mutation	SNP	ENST00000356287.3	37	c.2018G>A	CCDS9600.1	.	.	.	.	.	.	.	.	.	.	.	27.8	4.865066	0.91511	.	.	ENSG00000197616	ENST00000405093;ENST00000356287	D;D	0.90620	-2.7;-2.7	4.26	4.26	0.50523	Myosin head, motor domain (2);	.	.	.	.	D	0.97813	0.9282	H	0.99825	4.815	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99705	1.1005	9	0.87932	D	0	.	17.2018	0.86908	0.0:1.0:0.0:0.0	.	673	P13533	MYH6_HUMAN	H	673	ENSP00000386041:R673H;ENSP00000348634:R673H	ENSP00000348634:R673H	R	-	2	0	MYH6	22936251	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	7.219000	0.78000	2.382000	0.81193	0.650000	0.86243	CGT		0.542	MYH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071796.3			7	305	0	0	0	0.038147	0	7	305					T	23866411	C	T	23866411	3	4	30	1	0	0	0	0	1	0	0	0	10038	536	19	1	3893	1	MYH6	14	23866411	Missense_Mutation	SNP	C	TCGA-CH-5764-01A-21D-1576-08		23866411	83483129	42	1510											
CLEC14A	161198	broad.mit.edu	37	chr14	38724734	38724734	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcacaggtagccgttggcgCgcaggtggcatcgcatctcc	6	8	14	13	4	1	0	0	0	1	0	3	0	1	0	2	4	2	6	2	4	1	2			TCGA-CH-5764-01A-21D-1576-08	TCGA-CH-5764-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df9acd7f-8875-4113-aba6-e89844ca6a43	fcc3c66f-f4b0-4cbc-add4-9f14713ef0eb	g.chr14:38724734C>A	ENST00000342213.2	-	1	840	c.494G>T	c.(493-495)cGc>cTc	p.R165L		NM_175060.2	NP_778230.1	Q86T13	CLC14_HUMAN	C-type lectin domain family 14, member A	165	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.					extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)	p.R165L(1)		breast(1)|cervix(2)|endometrium(2)|large_intestine(7)|lung(9)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00439)		GCCGTTGGCGCGCAGGTGGCA	0.682																																						ENST00000342213.2																			1	Substitution - Missense(1)	p.R165L(1)	prostate(1)	breast(1)|cervix(2)|endometrium(2)|large_intestine(7)|lung(9)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33						c.(493-495)cGc>cTc		C-type lectin domain family 14, member A							44	39	40					14																	38724734		2200	4289	6489	SO:0001583	missense	161198					integral to membrane	sugar binding	g.chr14:38724734C>A		CCDS9667.1	14q21.1	2010-04-27	2005-02-11	2005-02-11	ENSG00000176435	ENSG00000176435		"C-type lectin domain containing"	19832	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 27"	C14orf27			Standard	NM_175060		Approved		uc001wum.2	Q86T13	OTTHUMG00000140248	ENST00000342213.2:c.494G>T	14.37:g.38724734C>A	ENSP00000353013:p.Arg165Leu						p.R165L	NM_175060.2	NP_778230.1	Q86T13	CLC14_HUMAN	Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00439)	1	840	-	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		165			C-type lectin.		Q695G9|Q6PWT6|Q8N5V5	Missense_Mutation	SNP	ENST00000342213.2	37	c.494G>T	CCDS9667.1	.	.	.	.	.	.	.	.	.	.	C	17.20	3.330038	0.60743	.	.	ENSG00000176435	ENST00000342213	T	0.53857	0.6	3.91	2.04	0.26737	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (1);	0.212421	0.30940	N	0.008579	T	0.31231	0.0790	L	0.38175	1.15	0.33080	D	0.536462	P	0.38565	0.637	B	0.28709	0.093	T	0.42849	-0.9427	10	0.59425	D	0.04	-20.1422	3.3834	0.07262	0.2052:0.5816:0.0:0.2132	.	165	Q86T13	CLC14_HUMAN	L	165	ENSP00000353013:R165L	ENSP00000353013:R165L	R	-	2	0	CLEC14A	37794485	0.893000	0.30496	0.991000	0.47740	0.746000	0.42486	1.259000	0.32956	0.597000	0.29811	0.591000	0.81541	CGC		0.682	CLEC14A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276729.1	NM_175060		16	52	1	0	5.35047e-06	0.083992	6.50288e-06	16	52					A	38724734	C	A	38724734	3	1	30	1	0	0	0	0	1	0	0	0	3499	768	27	5	982	5	CLEC14A	14	38724734	Missense_Mutation	SNP	C	TCGA-CH-5764-01A-21D-1576-08	14858323	38724734	68624806	43	1511											
ARG2	384	broad.mit.edu	37	chr14	68113409	68113409	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcaaaccttgtatctcttctGcaagtattgtgtatattggt	9	18	7	7	0	3	0	1	0	2	0	4	0	3	0	1	1	2	4	1	1	6	8	rs199828283		TCGA-CH-5764-01A-21D-1576-08	TCGA-CH-5764-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df9acd7f-8875-4113-aba6-e89844ca6a43	fcc3c66f-f4b0-4cbc-add4-9f14713ef0eb	g.chr14:68113409G>C	ENST00000261783.3	+	5	751	c.571G>C	c.(571-573)Gca>Cca	p.A191P	ARG2_ENST00000556491.1_3'UTR	NM_001172.3	NP_001163.1	P78540	ARGI2_HUMAN	arginase 2	191					arginine metabolic process (GO:0006525)|cellular nitrogen compound metabolic process (GO:0034641)|nitric oxide biosynthetic process (GO:0006809)|small molecule metabolic process (GO:0044281)|striated muscle contraction (GO:0006941)|urea cycle (GO:0000050)|ureteric bud development (GO:0001657)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	arginase activity (GO:0004053)|metal ion binding (GO:0046872)	p.A191P(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|ovary(1)|prostate(1)	11				all cancers(60;0.000582)|OV - Ovarian serous cystadenocarcinoma(108;0.00392)|BRCA - Breast invasive adenocarcinoma(234;0.00928)	L-Arginine(DB00125)|L-Ornithine(DB00129)	TATCTCTTCTGCAAGTATTGT	0.423																																						ENST00000261783.3																			1	Substitution - Missense(1)	p.A191P(1)	prostate(1)	breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|ovary(1)|prostate(1)	11						c.(571-573)Gca>Cca		arginase 2	L-Arginine(DB00125)|L-Ornithine(DB00129)						200	186	191					14																	68113409		2203	4300	6503	SO:0001583	missense	384				arginine metabolic process|nitric oxide biosynthetic process|urea cycle	mitochondrial matrix	arginase activity|metal ion binding	g.chr14:68113409G>C	D86724	CCDS9785.1	14q24.1	2013-05-01	2013-05-01			ENSG00000081181			664	protein-coding gene	gene with protein product		107830	"arginase, type II"			8954792, 8898077	Standard	NM_001172		Approved		uc001xjs.3	P78540		ENST00000261783.3:c.571G>C	14.37:g.68113409G>C	ENSP00000261783:p.Ala191Pro					ARG2_ENST00000556491.1_3'UTR	p.A191P	NM_001172.3	NP_001163.1	P78540	ARGI2_HUMAN		all cancers(60;0.000582)|OV - Ovarian serous cystadenocarcinoma(108;0.00392)|BRCA - Breast invasive adenocarcinoma(234;0.00928)	5	751	+			191					B2R690|Q6FHY8	Missense_Mutation	SNP	ENST00000261783.3	37	c.571G>C	CCDS9785.1	.	.	.	.	.	.	.	.	.	.	G	10.35	1.326826	0.24080	.	.	ENSG00000081181	ENST00000261783	D	0.84800	-1.9	6.04	3.28	0.37604	Ureohydrolase domain (1);	0.308380	0.40144	N	0.001163	T	0.67449	0.2894	N	0.12569	0.235	0.23568	N	0.997391	B	0.02656	0.0	B	0.01281	0.0	T	0.52343	-0.8588	10	0.27785	T	0.31	.	4.6158	0.12427	0.0:0.5091:0.1552:0.3357	.	191	P78540	ARGI2_HUMAN	P	191	ENSP00000261783:A191P	ENSP00000261783:A191P	A	+	1	0	ARG2	67183162	0.186000	0.23225	0.995000	0.50966	0.948000	0.59901	0.702000	0.25631	0.458000	0.26988	-1.021000	0.02439	GCA		0.423	ARG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415190.2	NM_001172		7	239	0	0	0	0.038147	0	7	239					C	68113409	G	C	68113409	3	2	30	1	0	0	0	0	1	0	0	0	858	1319	46	5	589	5	ARG2	14	68113409	Missense_Mutation	SNP	G	TCGA-CH-5764-01A-21D-1576-08	29388675	68113409	39236131	44	1512											
SETD1A	9739	broad.mit.edu	37	chr16	30991347	30991347	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccccgccgccaccgccccgcGcctacgagccacgcagtgag	6	2	11	22	7	0	1	0	1	0	0	0	2	0	1	9	0	2	1	9	0	1	1	rs373025485		TCGA-CH-5764-01A-21D-1576-08	TCGA-CH-5764-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df9acd7f-8875-4113-aba6-e89844ca6a43	fcc3c66f-f4b0-4cbc-add4-9f14713ef0eb	g.chr16:30991347G>A	ENST00000262519.8	+	14	4926	c.4240G>A	c.(4240-4242)Gcc>Acc	p.A1414T		NM_014712.1	NP_055527.1	O15047	SET1A_HUMAN	SET domain containing 1A	1414	Pro-rich. {ECO:0000255}.				histone H3-K4 methylation (GO:0051568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)	histone methyltransferase activity (H3-K4 specific) (GO:0042800)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)	p.A1414T(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(21)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	59						accgccccgcgccTACGAGCC	0.687																																						ENST00000262519.8																			1	Substitution - Missense(1)	p.A1414T(1)	prostate(1)	NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(21)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	59						c.(4240-4242)Gcc>Acc		SET domain containing 1A		G	THR/ALA	0,4390		0,0,2195	21	24	23		4240	-5.1	0	16		23	1,8595		0,1,4297	no	missense	SETD1A	NM_014712.1	58	0,1,6492	AA,AG,GG		0.0116,0.0,0.0077	benign	1414/1708	30991347	1,12985	2195	4298	6493	SO:0001583	missense	9739				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nuclear speck|Set1C/COMPASS complex	histone-lysine N-methyltransferase activity|nucleotide binding|protein binding|RNA binding	g.chr16:30991347G>A	AB002337	CCDS32435.1	16p11.2	2013-02-12			ENSG00000099381	ENSG00000099381		"Chromatin-modifying enzymes / K-methyltransferases", "RNA binding motif (RRM) containing"	29010	protein-coding gene	gene with protein product		611052				9205841, 12670868	Standard	XM_005255723		Approved	KIAA0339, Set1, KMT2F	uc002ead.1	O15047	OTTHUMG00000150474	ENST00000262519.8:c.4240G>A	16.37:g.30991347G>A	ENSP00000262519:p.Ala1414Thr						p.A1414T	NM_014712.1	NP_055527.1	O15047	SET1A_HUMAN			14	4926	+			1414			Pro-rich.		A6NP62|Q6PIF3|Q8TAJ6	Missense_Mutation	SNP	ENST00000262519.8	37	c.4240G>A	CCDS32435.1	.	.	.	.	.	.	.	.	.	.	G	4.241	0.043649	0.08196	0.0	1.16E-4	ENSG00000099381	ENST00000262519	D	0.94046	-3.34	4.06	-5.09	0.02920	.	1.278640	0.05222	N	0.508702	T	0.79741	0.4498	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.72010	-0.4419	10	0.09843	T	0.71	.	2.3248	0.04220	0.1451:0.0969:0.3186:0.4394	.	1414	O15047	SET1A_HUMAN	T	1414	ENSP00000262519:A1414T	ENSP00000262519:A1414T	A	+	1	0	SETD1A	30898848	0.001000	0.12720	0.001000	0.08648	0.001000	0.01503	-0.112000	0.10791	-1.406000	0.02045	-0.253000	0.11424	GCC		0.687	SETD1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318244.2	NM_014712		7	14	0	0	0	0.02938	0	7	14					A	30991347	G	A	30991347	3	1	30	1	0	0	0	0	1	0	0	0	14130	1087	38	1	4290	1	SETD1A	16	30991347	Missense_Mutation	SNP	G	TCGA-CH-5764-01A-21D-1576-08		30991347	59363406	45	1513											
ZNF423	23090	broad.mit.edu	37	chr16	49669876	49669876	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcacagggcgcacttgtagaGcttctgcagcccctggccat	7	8	12	14	1	1	1	0	0	1	1	1	1	1	1	3	2	3	5	3	2	1	3			TCGA-CH-5764-01A-21D-1576-08	TCGA-CH-5764-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df9acd7f-8875-4113-aba6-e89844ca6a43	fcc3c66f-f4b0-4cbc-add4-9f14713ef0eb	g.chr16:49669876G>A	ENST00000561648.1	-	4	3240	c.3187C>T	c.(3187-3189)Ctc>Ttc	p.L1063F	ZNF423_ENST00000262383.2_Missense_Mutation_p.L1063F|ZNF423_ENST00000562871.1_Missense_Mutation_p.L1003F|ZNF423_ENST00000563137.2_Missense_Mutation_p.L1003F|ZNF423_ENST00000535559.1_Missense_Mutation_p.L946F|ZNF423_ENST00000562520.1_Missense_Mutation_p.L1003F|ZNF423_ENST00000567169.1_Missense_Mutation_p.L946F	NM_001271620.1	NP_001258549.1	Q2M1K9	ZN423_HUMAN	zinc finger protein 423	1063					cell differentiation (GO:0030154)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.L1063F(3)		breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	89		all_cancers(37;0.0155)				CACTTGTAGAGCTTCTGCAGC	0.627																																						ENST00000561648.1																			3	Substitution - Missense(3)	p.L1063F(3)	prostate(3)	breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	89						c.(3187-3189)Ctc>Ttc		zinc finger protein 423							36	34	35					16																	49669876		2199	4299	6498	SO:0001583	missense	23090				cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	g.chr16:49669876G>A	AB018303	CCDS32445.1, CCDS61930.1	16q12	2014-01-28				ENSG00000102935		"Zinc fingers, C2H2-type"	16762	protein-coding gene	gene with protein product	"OLF-1/EBF associated zinc finger gene", " Smad- and Olf-interacting zinc finger protein", "early B-cell factor associated zinc finger protein"	604557				9872452, 10660046	Standard	NM_001271620		Approved	KIAA0760, OAZ, Roaz, Ebfaz, Zfp104, NPHP14, JBTS19	uc031qwd.1	Q2M1K9		ENST00000561648.1:c.3187C>T	16.37:g.49669876G>A	ENSP00000455426:p.Leu1063Phe					ZNF423_ENST00000562871.1_Missense_Mutation_p.L1003F|ZNF423_ENST00000567169.1_Missense_Mutation_p.L946F|ZNF423_ENST00000563137.2_Missense_Mutation_p.L1003F|ZNF423_ENST00000562520.1_Missense_Mutation_p.L1003F|ZNF423_ENST00000262383.2_Missense_Mutation_p.L1063F|ZNF423_ENST00000535559.1_Missense_Mutation_p.L946F	p.L1063F	NM_001271620.1	NP_001258549.1	Q2M1K9	ZN423_HUMAN			4	3240	-		all_cancers(37;0.0155)	1063					O94860|Q76N04|Q9NZ13	Missense_Mutation	SNP	ENST00000561648.1	37	c.3187C>T	CCDS32445.1	.	.	.	.	.	.	.	.	.	.	G	12.68	2.011931	0.35511	.	.	ENSG00000102935	ENST00000262383;ENST00000535559	T;T	0.10860	2.83;2.89	5.1	5.1	0.69264	.	0.129173	0.52532	D	0.000062	T	0.07773	0.0195	N	0.19112	0.55	0.39982	D	0.974931	B	0.10296	0.003	B	0.15052	0.012	T	0.31998	-0.9923	9	.	.	.	-33.2386	13.5039	0.61474	0.0:0.0:0.844:0.156	.	1063	Q2M1K9	ZN423_HUMAN	F	1063;946	ENSP00000262383:L1063F;ENSP00000442321:L946F	.	L	-	1	0	ZNF423	48227377	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	3.381000	0.52455	2.390000	0.81377	0.561000	0.74099	CTC		0.627	ZNF423-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000423258.1	NM_015069		3	28	0	0	0	0.009096	0	3	28					A	49669876	G	A	49669876	3	1	30	1	0	0	0	0	1	0	0	0	17895	971	34	3	687	3	ZNF423	16	49669876	Missense_Mutation	SNP	G	TCGA-CH-5764-01A-21D-1576-08	18678529	49669876	40684877	46	1514											
CD226	10666	broad.mit.edu	37	chr18	67614065	67614065	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	catcatcttcagaggcattcCgaaagaaaagagtcatgtta	15	10	8	8	1	4	3	3	0	1	3	5	4	5	3	1	1	0	2	1	1	4	3			TCGA-CH-5764-01A-21D-1576-08	TCGA-CH-5764-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df9acd7f-8875-4113-aba6-e89844ca6a43	fcc3c66f-f4b0-4cbc-add4-9f14713ef0eb	g.chr18:67614065C>G	ENST00000280200.4	-	3	555	c.287G>C	c.(286-288)cGg>cCg	p.R96P	CD226_ENST00000581982.1_Intron|CD226_ENST00000577287.1_Intron|CD226_ENST00000582621.1_Missense_Mutation_p.R96P	NM_006566.2	NP_006557.2	Q15762	CD226_HUMAN	CD226 molecule	96	Ig-like C2-type 1.				cell adhesion (GO:0007155)|cell recognition (GO:0008037)|cytokine production (GO:0001816)|positive regulation of Fc receptor mediated stimulatory signaling pathway (GO:0060369)|positive regulation of immunoglobulin mediated immune response (GO:0002891)|positive regulation of mast cell activation (GO:0033005)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target (GO:0002860)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|integrin binding (GO:0005178)|protein kinase binding (GO:0019901)	p.R96P(1)|p.R96L(1)		breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(14)|prostate(1)|urinary_tract(1)	24		Esophageal squamous(42;0.129)				AGAGGCATTCCGAAAGAAAAG	0.448																																					NSCLC(184;838 2130 8673 21498 50749)	ENST00000280200.4																			2	Substitution - Missense(2)	p.R96P(1)|p.R96L(1)	prostate(1)|lung(1)	breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(14)|prostate(1)|urinary_tract(1)	24						c.(286-288)cGg>cCg		CD226 molecule							116	104	108					18																	67614065		2203	4300	6503	SO:0001583	missense	10666				cell adhesion|cell recognition|positive regulation of Fc receptor mediated stimulatory signaling pathway|positive regulation of immunoglobulin mediated immune response|positive regulation of mast cell activation|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target	cell surface|integral to plasma membrane|membrane raft	cell adhesion molecule binding|integrin binding|protein kinase binding|receptor activity	g.chr18:67614065C>G	U56102	CCDS11997.1	18q22.3	2013-01-11	2006-03-28		ENSG00000150637	ENSG00000150637		"CD molecules", "Immunoglobulin superfamily / V-set domain containing"	16961	protein-coding gene	gene with protein product		605397	"CD226 antigen"			8673704	Standard	NM_006566		Approved	DNAM-1, DNAM1, PTA1, TLiSA1	uc002lkm.4	Q15762	OTTHUMG00000132809	ENST00000280200.4:c.287G>C	18.37:g.67614065C>G	ENSP00000280200:p.Arg96Pro					CD226_ENST00000581982.1_Intron|CD226_ENST00000577287.1_Intron|CD226_ENST00000582621.1_Missense_Mutation_p.R96P	p.R96P	NM_006566.2	NP_006557.2	Q15762	CD226_HUMAN			3	555	-		Esophageal squamous(42;0.129)	96			Ig-like C2-type 1.		B2R818	Missense_Mutation	SNP	ENST00000280200.4	37	c.287G>C	CCDS11997.1	.	.	.	.	.	.	.	.	.	.	C	10.88	1.474227	0.26423	.	.	ENSG00000150637	ENST00000280200	T	0.66638	-0.22	5.51	4.36	0.52297	Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.637967	0.16677	N	0.204083	T	0.61426	0.2346	L	0.46157	1.445	0.19945	N	0.999942	P	0.51240	0.943	P	0.46585	0.521	T	0.52313	-0.8592	10	0.37606	T	0.19	.	7.8306	0.29340	0.0:0.0968:0.0:0.9032	.	96	Q15762	CD226_HUMAN	P	96	ENSP00000280200:R96P	ENSP00000280200:R96P	R	-	2	0	CD226	65765045	0.003000	0.15002	0.290000	0.24890	0.048000	0.14542	-0.048000	0.11944	1.043000	0.40175	-0.302000	0.09304	CGG		0.448	CD226-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256226.3	NM_006566		52	108	0	0	0	0.139131	0	52	108					G	67614065	C	G	67614065	3	3	30	1	0	0	0	0	1	0	0	0	2986	652	23	5	743	5	CD226	18	67614065	Missense_Mutation	SNP	C	TCGA-CH-5764-01A-21D-1576-08		67614065	10463183	47	1515											
DOT1L	84444	broad.mit.edu	37	chr19	2210728	2210728	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aggggaggaagatggctggcCgcaagcgcgggcgccccaag	9	2	19	11	4	0	1	0	0	0	1	0	3	0	3	3	6	1	2	3	6	3	0			TCGA-CH-5764-01A-21D-1576-08	TCGA-CH-5764-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df9acd7f-8875-4113-aba6-e89844ca6a43	fcc3c66f-f4b0-4cbc-add4-9f14713ef0eb	g.chr19:2210728C>T	ENST00000398665.3	+	14	1261	c.1225C>T	c.(1225-1227)Cgc>Tgc	p.R409C	AC004490.1_ENST00000585593.1_RNA	NM_032482.2	NP_115871.1	Q8TEK3	DOT1L_HUMAN	DOT1-like histone H3K79 methyltransferase	409	Required for interaction with nucleosomes and DNA.				histone lysine methylation (GO:0034968)|regulation of JAK-STAT cascade (GO:0046425)|regulation of transcription regulatory region DNA binding (GO:2000677)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription factor binding (GO:0008134)	p.R409C(1)		NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(9)	42		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GATGGCTGGCCGCAAGCGCGG	0.602																																						ENST00000398665.3																			1	Substitution - Missense(1)	p.R409C(1)	prostate(1)	NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(9)	42						c.(1225-1227)Cgc>Tgc		DOT1-like histone H3K79 methyltransferase							66	79	75					19																	2210728		1964	4144	6108	SO:0001583	missense	84444					nucleus	DNA binding|histone-lysine N-methyltransferase activity|protein binding	g.chr19:2210728C>T	AF509504	CCDS42460.1	19p13.3	2013-05-21	2013-05-21		ENSG00000104885	ENSG00000104885	2.1.1.43	"Chromatin-modifying enzymes / K-methyltransferases"	24948	protein-coding gene	gene with protein product	"histone methyltransferase DOT1L"	607375	"DOT1-like, histone H3 methyltransferase (S. cerevisiae)"			11347906, 12123582	Standard	NM_032482		Approved	KIAA1814, DOT1, KMT4	uc002lvb.4	Q8TEK3	OTTHUMG00000150431	ENST00000398665.3:c.1225C>T	19.37:g.2210728C>T	ENSP00000381657:p.Arg409Cys						p.R409C	NM_032482.2	NP_115871.1	Q8TEK3	DOT1L_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	14	1261	+		Hepatocellular(1079;0.137)	409			Required for interaction with nucleosomes and DNA.		O60379|Q96JL1	Missense_Mutation	SNP	ENST00000398665.3	37	c.1225C>T	CCDS42460.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.021213	0.75275	.	.	ENSG00000104885	ENST00000398665;ENST00000221482	T	0.31510	1.49	4.84	3.77	0.43336	.	0.058386	0.64402	D	0.000003	T	0.50650	0.1628	M	0.68952	2.095	0.45594	D	0.998539	D	0.89917	1.0	D	0.80764	0.994	T	0.54193	-0.8330	10	0.87932	D	0	-25.575	11.6214	0.51119	0.2509:0.7491:0.0:0.0	.	409	Q8TEK3-2	.	C	409	ENSP00000381657:R409C	ENSP00000221482:R409C	R	+	1	0	DOT1L	2161728	1.000000	0.71417	0.982000	0.44146	0.801000	0.45260	3.079000	0.50104	2.222000	0.72286	0.561000	0.74099	CGC		0.602	DOT1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318066.1	NM_032482		9	129	0	0	0	0.069234	0	9	129					T	2210728	C	T	2210728	3	4	30	1	0	0	0	0	1	0	0	0	4709	652	23	2	1279	2	DOT1L	19	2210728	Missense_Mutation	SNP	C	TCGA-CH-5764-01A-21D-1576-08		2210728	56918255	48	1516											
PNMAL1	55228	broad.mit.edu	37	chr19	46973938	46973938	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaccacatcctcccaggtgcGcccctcggcatccaggaatt	8	7	9	17	2	0	0	0	0	0	0	4	2	3	1	6	3	1	1	6	3	1	1			TCGA-CH-5764-01A-21D-1576-08	TCGA-CH-5764-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df9acd7f-8875-4113-aba6-e89844ca6a43	fcc3c66f-f4b0-4cbc-add4-9f14713ef0eb	g.chr19:46973938G>A	ENST00000313683.10	-	2	660	c.355C>T	c.(355-357)Cgc>Tgc	p.R119C	PNMAL1_ENST00000602246.1_Intron|PNMAL1_ENST00000438932.2_Missense_Mutation_p.R119C	NM_001103149.1|NM_018215.3	NP_001096619.1|NP_060685.2	Q86V59	PNML1_HUMAN	paraneoplastic Ma antigen family-like 1	119								p.R119C(2)		cervix(1)|endometrium(2)|large_intestine(8)|lung(8)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	25		Ovarian(192;0.00965)|all_neural(266;0.0459)		OV - Ovarian serous cystadenocarcinoma(262;0.000166)|all cancers(93;0.0014)|GBM - Glioblastoma multiforme(486;0.0421)|Epithelial(262;0.0427)		tcccaggtgcgcccctcggca	0.582																																						ENST00000313683.10																			2	Substitution - Missense(2)	p.R119C(2)	prostate(2)	cervix(1)|endometrium(2)|large_intestine(8)|lung(8)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	25						c.(355-357)Cgc>Tgc		paraneoplastic Ma antigen family-like 1							43	46	45					19																	46973938		2203	4300	6503	SO:0001583	missense	55228							g.chr19:46973938G>A	BC026026	CCDS33059.1, CCDS46124.1	19q13.32	2014-02-12	2012-02-09			ENSG00000182013		"Paraneoplastic Ma antigens"	25578	protein-coding gene	gene with protein product			"PNMA-like 1"			12477932	Standard	NM_018215		Approved	KIAA1183L, FLJ10781	uc002peq.4	Q86V59		ENST00000313683.10:c.355C>T	19.37:g.46973938G>A	ENSP00000318131:p.Arg119Cys					PNMAL1_ENST00000438932.2_Missense_Mutation_p.R119C|PNMAL1_ENST00000602246.1_Intron	p.R119C	NM_001103149.1|NM_018215.3	NP_001096619.1|NP_060685.2	Q86V59	PNML1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000166)|all cancers(93;0.0014)|GBM - Glioblastoma multiforme(486;0.0421)|Epithelial(262;0.0427)	2	660	-		Ovarian(192;0.00965)|all_neural(266;0.0459)	119					A8K2F3|Q5U638|Q8N3H4|Q9NVE8	Missense_Mutation	SNP	ENST00000313683.10	37	c.355C>T	CCDS33059.1	.	.	.	.	.	.	.	.	.	.	G	19.74	3.884521	0.72410	.	.	ENSG00000182013	ENST00000438932;ENST00000313683;ENST00000417103	T;T	0.11821	2.74;2.74	3.36	3.36	0.38483	.	0.000000	0.36854	N	0.002368	T	0.33059	0.0850	M	0.72894	2.215	0.45777	D	0.998666	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.992	T	0.06534	-1.0821	10	0.87932	D	0	-10.9945	10.5182	0.44903	0.0:0.0:1.0:0.0	.	119;119	Q86V59-2;Q86V59	.;PNML1_HUMAN	C	119	ENSP00000410273:R119C;ENSP00000318131:R119C	ENSP00000318131:R119C	R	-	1	0	PNMAL1	51665778	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	2.523000	0.45580	2.185000	0.69588	0.655000	0.94253	CGC		0.582	PNMAL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000403929.1	NM_018215		19	135	0	0	0	0.055883	0	19	135					A	46973938	G	A	46973938	3	1	30	1	0	0	0	0	1	0	0	0	12157	1087	38	1	994	1	PNMAL1	19	46973938	Missense_Mutation	SNP	G	TCGA-CH-5764-01A-21D-1576-08	44763210	46973938	12155045	49	1517											
ZSCAN5B	342933	broad.mit.edu	37	chr19	56701513	56701513	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtctgagggctgcaagaagcGcttccgacagagatcacatt	11	8	12	10	2	2	3	1	1	1	2	3	5	3	3	1	1	2	3	1	1	2	2	rs534584381		TCGA-CH-5764-01A-21D-1576-08	TCGA-CH-5764-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df9acd7f-8875-4113-aba6-e89844ca6a43	fcc3c66f-f4b0-4cbc-add4-9f14713ef0eb	g.chr19:56701513G>A	ENST00000586855.2	-	5	1484	c.1171C>T	c.(1171-1173)Cgc>Tgc	p.R391C	ZSCAN5B_ENST00000358992.3_Missense_Mutation_p.R391C			A6NJL1	ZSA5B_HUMAN	zinc finger and SCAN domain containing 5B	391					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)	p.R391C(2)		breast(1)|endometrium(5)|large_intestine(3)|lung(23)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						TGCAAGAAGCGCTTCCGACAG	0.527																																						ENST00000586855.2																			2	Substitution - Missense(2)	p.R391C(2)	prostate(2)	breast(1)|endometrium(5)|large_intestine(3)|lung(23)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						c.(1171-1173)Cgc>Tgc		zinc finger and SCAN domain containing 5B							76	80	79					19																	56701513		2180	4279	6459	SO:0001583	missense	342933				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:56701513G>A		CCDS46203.1	19q13.42	2013-01-08			ENSG00000197213	ENSG00000197213		"-", "Zinc fingers, C2H2-type"	34246	protein-coding gene	gene with protein product							Standard	NM_001080456		Approved	ZNF495B, ZNF371	uc010ygh.2	A6NJL1		ENST00000586855.2:c.1171C>T	19.37:g.56701513G>A	ENSP00000466072:p.Arg391Cys					ZSCAN5B_ENST00000358992.3_Missense_Mutation_p.R391C	p.R391C			A6NJL1	ZSA5B_HUMAN			5	1484	-			391						Missense_Mutation	SNP	ENST00000586855.2	37	c.1171C>T	CCDS46203.1	.	.	.	.	.	.	.	.	.	.	g	8.074	0.770981	0.15983	.	.	ENSG00000197213	ENST00000358992	T	0.07688	3.17	3.15	-0.756	0.11057	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.07908	0.0198	L	0.48986	1.54	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.32719	-0.9896	9	0.46703	T	0.11	.	6.1041	0.20063	0.5093:0.3071:0.1837:0.0	.	391	A6NJL1	ZSA5B_HUMAN	C	391	ENSP00000351883:R391C	ENSP00000351883:R391C	R	-	1	0	ZSCAN5B	61393325	0.000000	0.05858	0.001000	0.08648	0.022000	0.10575	-5.279000	0.00135	-0.137000	0.11455	-0.699000	0.03677	CGC		0.527	ZSCAN5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457834.2	NM_001080456		8	98	0	0	0	0.038147	0	8	98					A	56701513	G	A	56701513	3	1	30	1	0	0	0	0	1	0	0	0	18236	1087	38	1	320	1	ZSCAN5B	19	56701513	Missense_Mutation	SNP	G	TCGA-CH-5764-01A-21D-1576-08	9727575	56701513	2427470	50	1518											
SIGLEC1	6614	broad.mit.edu	37	chr20	3678583	3678583	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctttggtgaccttcatgcGtggggaacagcccccacagg	7	8	14	12	1	1	1	1	1	0	0	1	2	1	2	3	5	3	1	3	5	1	2			TCGA-CH-5764-01A-21D-1576-08	TCGA-CH-5764-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df9acd7f-8875-4113-aba6-e89844ca6a43	fcc3c66f-f4b0-4cbc-add4-9f14713ef0eb	g.chr20:3678583G>A	ENST00000344754.4	-	8	1983	c.1984C>T	c.(1984-1986)Cgc>Tgc	p.R662C	SIGLEC1_ENST00000202578.4_Missense_Mutation_p.R662C	NM_023068.3	NP_075556.1	Q9BZZ2	SN_HUMAN	sialic acid binding Ig-like lectin 1, sialoadhesin	662	Ig-like C2-type 6.				cell-matrix adhesion (GO:0007160)|endocytosis (GO:0006897)|inflammatory response (GO:0006954)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of T cell apoptotic process (GO:0070234)|single organismal cell-cell adhesion (GO:0016337)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)	p.R662C(1)		NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)	70						ACCTTCATGCGTGGGGAACAG	0.627																																						ENST00000344754.4																			1	Substitution - Missense(1)	p.R662C(1)	prostate(1)	NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)	70						c.(1984-1986)Cgc>Tgc		sialic acid binding Ig-like lectin 1, sialoadhesin							58	50	53					20																	3678583		2203	4300	6503	SO:0001583	missense	6614				cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response	extracellular region|integral to membrane|plasma membrane	sugar binding	g.chr20:3678583G>A	AF230073	CCDS13060.1	20p13	2013-01-29	2006-01-19	2006-01-19	ENSG00000088827	ENSG00000088827		"CD molecules", "Sialic acid binding Ig-like lectins", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	11127	protein-coding gene	gene with protein product		600751	"sialoadhesin"	SN		8530048	Standard	XM_006723610		Approved	SIGLEC-1, CD169, FLJ00051, FLJ00055, FLJ00073, FLJ32150, dJ1009E24.1, sialoadhesin	uc002wja.3	Q9BZZ2	OTTHUMG00000031757	ENST00000344754.4:c.1984C>T	20.37:g.3678583G>A	ENSP00000341141:p.Arg662Cys					SIGLEC1_ENST00000202578.4_Missense_Mutation_p.R662C	p.R662C	NM_023068.3	NP_075556.1	Q9BZZ2	SN_HUMAN			8	1983	-			662			Ig-like C2-type 6.		Q96DL4|Q9GZS5|Q9H1H6|Q9H1H7|Q9H7L7	Missense_Mutation	SNP	ENST00000344754.4	37	c.1984C>T	CCDS13060.1	.	.	.	.	.	.	.	.	.	.	G	19.85	3.904077	0.72754	.	.	ENSG00000088827	ENST00000344754;ENST00000202578	T;T	0.80214	-1.35;-1.35	5.54	5.54	0.83059	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.191412	0.26096	N	0.026376	D	0.90484	0.7019	M	0.88570	2.965	0.18873	N	0.999984	D;D	0.89917	1.0;1.0	D;D	0.77557	0.99;0.983	D	0.84014	0.0350	10	0.38643	T	0.18	.	14.8575	0.70351	0.0:0.0:1.0:0.0	.	662;662	Q9BZZ2;Q9BZZ2-3	SN_HUMAN;.	C	662	ENSP00000341141:R662C;ENSP00000202578:R662C	ENSP00000202578:R662C	R	-	1	0	SIGLEC1	3626583	0.188000	0.23250	0.025000	0.17156	0.986000	0.74619	2.810000	0.47979	2.884000	0.98904	0.655000	0.94253	CGC		0.627	SIGLEC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077761.2	NM_023068		9	97	0	0	0	0.069234	0	9	97					A	3678583	G	A	3678583	3	1	30	1	0	0	0	0	1	0	0	0	14305	1145	40	1	3201	1	SIGLEC1	20	3678583	Missense_Mutation	SNP	G	TCGA-CH-5764-01A-21D-1576-08		3678583	59346937	51	1519											
MED15	51586	broad.mit.edu	37	chr22	20937203	20937203	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccagagcccagtgacggcgCggaccccacagaacttcagt	10	4	11	16	3	1	3	1	1	0	2	1	4	1	4	4	2	2	0	4	2	1	1			TCGA-CH-5764-01A-21D-1576-08	TCGA-CH-5764-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df9acd7f-8875-4113-aba6-e89844ca6a43	fcc3c66f-f4b0-4cbc-add4-9f14713ef0eb	g.chr22:20937203C>T	ENST00000263205.7	+	11	1555	c.1486C>T	c.(1486-1488)Cgg>Tgg	p.R496W	MED15_ENST00000382974.2_Missense_Mutation_p.R385W|MED15_ENST00000541476.1_Missense_Mutation_p.R430W|MED15_ENST00000406969.1_Missense_Mutation_p.R430W|MED15_ENST00000292733.7_Missense_Mutation_p.R456W|MED15_ENST00000478831.1_3'UTR|MED15_ENST00000542773.1_Intron|MED15_ENST00000425759.2_Missense_Mutation_p.R345W	NM_001003891.1	NP_001003891.1	Q96RN5	MED15_HUMAN	mediator complex subunit 15	496	Pro-rich.				gene expression (GO:0010467)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	RNA polymerase II transcription cofactor activity (GO:0001104)	p.R496W(1)|p.R456W(1)		central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	25	all_cancers(11;2.07e-24)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)|Epithelial(17;0.209)			AGTGACGGCGCGGACCCCACA	0.602																																						ENST00000263205.7																			2	Substitution - Missense(2)	p.R496W(1)|p.R456W(1)	prostate(2)	central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	25						c.(1486-1488)Cgg>Tgg		mediator complex subunit 15							58	61	60					22																	20937203		2203	4299	6502	SO:0001583	missense	51586				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|mediator complex	protein binding	g.chr22:20937203C>T	AF056191	CCDS13781.1, CCDS33602.1, CCDS74824.1	22q11.2	2007-07-30	2007-07-30	2007-07-30	ENSG00000099917	ENSG00000099917			14248	protein-coding gene	gene with protein product		607372	"trinucleotide repeat containing 7", "PC2 (positive cofactor 2, multiprotein complex) glutamine/Q-rich-associated protein"	TNRC7, PCQAP		11024300, 11414760, 15175163	Standard	XM_005261632		Approved	TIG-1, CAG7A, Arc105	uc002zsp.3	Q96RN5	OTTHUMG00000150810	ENST00000263205.7:c.1486C>T	22.37:g.20937203C>T	ENSP00000263205:p.Arg496Trp					MED15_ENST00000425759.2_Missense_Mutation_p.R345W|MED15_ENST00000406969.1_Missense_Mutation_p.R430W|MED15_ENST00000542773.1_Intron|MED15_ENST00000292733.7_Missense_Mutation_p.R456W|MED15_ENST00000478831.1_3'UTR|MED15_ENST00000382974.2_Missense_Mutation_p.R385W|MED15_ENST00000541476.1_Missense_Mutation_p.R430W	p.R496W	NM_001003891.1	NP_001003891.1	Q96RN5	MED15_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)|Epithelial(17;0.209)		11	1555	+	all_cancers(11;2.07e-24)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	496			Pro-rich.		D3DX31|D3DX32|O15413|Q6IC31|Q8NF16|Q96CT0|Q96IH7|Q9P1T3	Missense_Mutation	SNP	ENST00000263205.7	37	c.1486C>T	CCDS33602.1	.	.	.	.	.	.	.	.	.	.	C	19.67	3.870228	0.72065	.	.	ENSG00000099917	ENST00000425759;ENST00000292733;ENST00000263205;ENST00000406969;ENST00000382974;ENST00000541476;ENST00000542312	.	.	.	5.49	5.49	0.81192	Mediator complex, subunit Med15, metazoa (1);	0.000000	0.85682	D	0.000000	T	0.79323	0.4426	M	0.73962	2.25	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	1.0;0.987;0.977;0.978;0.989;0.987	T	0.80843	-0.1201	9	0.62326	D	0.03	.	16.8508	0.85993	0.0:1.0:0.0:0.0	.	426;475;112;430;456;496	B4DGD6;Q6PKB8;B3KWF1;G3V1P5;Q96RN5-2;Q96RN5	.;.;.;.;.;MED15_HUMAN	W	345;456;496;430;385;430;426	.	ENSP00000263205:R496W	R	+	1	2	MED15	19267203	1.000000	0.71417	0.962000	0.40283	0.599000	0.36880	5.437000	0.66544	2.574000	0.86865	0.561000	0.74099	CGG		0.602	MED15-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000320177.2	NM_015889		7	95	0	0	0	0.02938	0	7	95					T	20937203	C	T	20937203	3	4	30	1	0	0	0	0	1	0	0	0	9433	759	27	1	1528	1	MED15	22	20937203	Missense_Mutation	SNP	C	TCGA-CH-5764-01A-21D-1576-08		20937203	30367363	52	1520											
MAGEA6	4105	broad.mit.edu	37	chrX	151869728	151869728	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagaaatgctggggagtgtcGtcggaaattggcagtacttc	10	10	14	7	2	0	1	0	0	0	1	3	3	0	3	0	4	2	3	0	4	3	3			TCGA-CH-5764-01A-21D-1576-08	TCGA-CH-5764-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df9acd7f-8875-4113-aba6-e89844ca6a43	fcc3c66f-f4b0-4cbc-add4-9f14713ef0eb	g.chrX:151869728G>A	ENST00000329342.5	+	3	643	c.418G>A	c.(418-420)Gtc>Atc	p.V140I		NM_005363.2	NP_005354.1	P43360	MAGA6_HUMAN	melanoma antigen family A, 6	140	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.							p.V140I(2)		breast(1)|endometrium(3)|large_intestine(3)|lung(16)|prostate(3)|skin(1)|urinary_tract(1)	28	Acute lymphoblastic leukemia(192;6.56e-05)					GGGGAGTGTCGTCGGAAATTG	0.527																																						ENST00000329342.5																			2	Substitution - Missense(2)	p.V140I(2)	prostate(1)|endometrium(1)	breast(1)|endometrium(3)|large_intestine(3)|lung(16)|prostate(3)|skin(1)|urinary_tract(1)	28						c.(418-420)Gtc>Atc		melanoma antigen family A, 6							157	141	146					X																	151869728		2202	4299	6501	SO:0001583	missense	4105						protein binding	g.chrX:151869728G>A		CCDS76050.1	Xq28	2009-03-13			ENSG00000197172	ENSG00000197172			6804	protein-coding gene	gene with protein product	"MAGE-6 antigen", "melanoma-associated antigen 6", "melanoma antigen family A 6", "cancer/testis antigen family 1, member 6"	300176		MAGE6		8575766	Standard	NM_005363		Approved	CT1.6	uc004ffq.1	P43360	OTTHUMG00000022642	ENST00000329342.5:c.418G>A	X.37:g.151869728G>A	ENSP00000329199:p.Val140Ile						p.V140I	NM_005363.2	NP_005354.1	P43360	MAGA6_HUMAN			3	643	+	Acute lymphoblastic leukemia(192;6.56e-05)		140			MAGE.		A8IF93|Q6NW44	Missense_Mutation	SNP	ENST00000329342.5	37	c.418G>A	CCDS14708.1	.	.	.	.	.	.	.	.	.	.	g	0	-2.610108	0.00121	.	.	ENSG00000197172	ENST00000329342;ENST00000412733;ENST00000457643	T;T;T	0.04156	3.69;3.69;3.69	0.605	-1.21	0.09524	.	1.395860	0.04188	N	0.327699	T	0.01189	0.0039	N	0.00468	-1.46	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.42816	-0.9429	9	0.02654	T	1	.	.	.	.	.	140	P43360	MAGA6_HUMAN	I	140	ENSP00000329199:V140I;ENSP00000403303:V140I;ENSP00000401806:V140I	ENSP00000329199:V140I	V	+	1	0	MAGEA6	151620384	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.436000	0.06922	-0.429000	0.07329	-1.553000	0.00894	GTC		0.527	MAGEA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058747.2	NM_005363		4	150	0	0	0	0.014758	0	4	150					A	151869728	G	A	151869728	3	1	30	1	0	0	0	0	1	0	0	0	9170	1145	40	1	420	1	MAGEA6	23	151869728	Missense_Mutation	SNP	G	TCGA-CH-5764-01A-21D-1576-08		151869728	3400832	53	1521											
MRPL20	55052	broad.mit.edu	37	chr1	1341203	1341203	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccataccttaactaaattccCaatgagcgctggatacttca	13	11	5	12	1	1	1	1	1	0	0	2	2	2	2	3	1	4	1	3	1	6	6			TCGA-CH-5765-01A-11D-1576-08	TCGA-CH-5765-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23762450-360d-4930-b53b-611e0041327a	8994a220-e271-46ea-b68f-28388545c317	g.chr1:1341203C>A	ENST00000344843.7	-	3	357	c.262G>T	c.(262-264)Ggg>Tgg	p.G88W	MRPL20_ENST00000482352.1_Missense_Mutation_p.G88W|MRPL20_ENST00000493287.1_5'UTR|RN7SL657P_ENST00000582431.1_RNA	NM_017971.3	NP_060441.2	Q9BYC9	RM20_HUMAN	mitochondrial ribosomal protein L20	88					translation (GO:0006412)	mitochondrial ribosome (GO:0005761)	poly(A) RNA binding (GO:0044822)|rRNA binding (GO:0019843)|structural constituent of ribosome (GO:0003735)	p.G88W(1)		endometrium(1)|large_intestine(1)|lung(2)|prostate(1)	5	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		ACTAAATTCCCAATGAGCGCT	0.448																																						ENST00000482352.1																			1	Substitution - Missense(1)	p.G88W(1)	prostate(1)	endometrium(1)|large_intestine(1)|lung(2)|prostate(1)	5						c.(262-264)Ggg>Tgg		mitochondrial ribosomal protein L20							172	169	170					1																	1341203		2203	4300	6503	SO:0001583	missense	55052						protein binding|rRNA binding	g.chr1:1341203C>A	AB049644	CCDS26.1	1p36.3-p36.2	2012-09-13			ENSG00000242485	ENSG00000242485		"Mitochondrial ribosomal proteins / large subunits"	14478	protein-coding gene	gene with protein product		611833					Standard	NM_017971		Approved	FLJ10024	uc001afo.4	Q9BYC9	OTTHUMG00000002916	ENST00000344843.7:c.262G>T	1.37:g.1341203C>A	ENSP00000341082:p.Gly88Trp					MRPL20_ENST00000344843.7_Missense_Mutation_p.G88W|MRPL20_ENST00000493287.1_5'UTR	p.G88W			Q9BYC9	RM20_HUMAN		Epithelial(90;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)	3	334	-	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)	88					B2RE41|B7Z746	Missense_Mutation	SNP	ENST00000344843.7	37	c.262G>T	CCDS26.1	.	.	.	.	.	.	.	.	.	.	c	14.05	2.419586	0.42918	.	.	ENSG00000242485	ENST00000344843	.	.	.	4.52	-3.74	0.04385	.	0.883737	0.10049	N	0.722523	T	0.41971	0.1182	L	0.53729	1.69	0.09310	N	1	D;P	0.71674	0.998;0.863	D;P	0.67382	0.951;0.703	T	0.32402	-0.9908	9	0.46703	T	0.11	2.1161	1.379	0.02226	0.1298:0.2004:0.2805:0.3894	.	88;88	B7Z746;Q9BYC9	.;RM20_HUMAN	W	88	.	ENSP00000341082:G88W	G	-	1	0	MRPL20	1331066	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.192000	0.09587	-0.575000	0.05982	0.542000	0.68232	GGG		0.448	MRPL20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008139.1	NM_017971		13	289	1	0	0.000151284	0.435327	0.000172592	13	289					A	1341203	C	A	1341203	3	1	31	1	0	0	0	0	1	0	0	0	9786	594	21	5	195	5	MRPL20	1	1341203	Missense_Mutation	SNP	C	TCGA-CH-5765-01A-11D-1576-08		1341203	247909418	1	1522											
ERMAP	114625	broad.mit.edu	37	chr1	43296646	43296646	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccggaatataaggggaggaCggtgctagtgagagatgccc	11	6	17	7	2	0	2	0	1	0	1	0	6	0	5	2	5	2	1	2	5	4	3			TCGA-CH-5765-01A-11D-1576-08	TCGA-CH-5765-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23762450-360d-4930-b53b-611e0041327a	8994a220-e271-46ea-b68f-28388545c317	g.chr1:43296646C>T	ENST00000372517.2	+	4	537	c.293C>T	c.(292-294)aCg>aTg	p.T98M	ERMAP_ENST00000328249.3_Missense_Mutation_p.T8M|ERMAP_ENST00000372514.3_Missense_Mutation_p.T98M|ERMAP_ENST00000487556.1_Intron	NM_001017922.1	NP_001017922.1	Q96PL5	ERMAP_HUMAN	erythroblast membrane-associated protein (Scianna blood group)	98	Ig-like V-type.					cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.T98M(1)		breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	11	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				AAGGGGAGGACGGTGCTAGTG	0.562																																						ENST00000328249.3																			1	Substitution - Missense(1)	p.T98M(1)	prostate(1)	breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	11						c.(22-24)aCg>aTg		erythroblast membrane-associated protein (Scianna blood group)							135	116	122					1																	43296646		2203	4300	6503	SO:0001583	missense	114625					integral to membrane|plasma membrane		g.chr1:43296646C>T	AF311284	CCDS475.1	1p34	2014-07-19	2006-02-23		ENSG00000164010	ENSG00000164010		"Blood group antigens", "Immunoglobulin superfamily / V-set domain containing", "Butyrophilins"	15743	protein-coding gene	gene with protein product		609017	"Radin blood group", "Scianna blood group", "erythroblast membrane-associated protein", "erythroblast membrane-associated protein (RD and SC blood groups)"	RD, SC		11549310	Standard	XM_005270415		Approved	BTN5	uc001cie.1	Q96PL5	OTTHUMG00000007619	ENST00000372517.2:c.293C>T	1.37:g.43296646C>T	ENSP00000361595:p.Thr98Met					ERMAP_ENST00000372514.3_Missense_Mutation_p.T98M|ERMAP_ENST00000372517.2_Missense_Mutation_p.T98M|ERMAP_ENST00000487556.1_Intron	p.T8M			Q96PL5	ERMAP_HUMAN			1	1061	+	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)	98					D3DPW8|Q5VV53|Q6DUE0|Q7Z3X0|Q8NCV8|Q8NCW2|Q8NCW3|Q96PL6	Missense_Mutation	SNP	ENST00000372517.2	37	c.23C>T	CCDS475.1	.	.	.	.	.	.	.	.	.	.	C	19.07	3.756742	0.69648	.	.	ENSG00000164010	ENST00000372517;ENST00000372514;ENST00000328249	T;T;T	0.28255	1.62;1.62;1.62	4.83	4.83	0.62350	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.234460	0.29565	N	0.011795	T	0.62612	0.2442	M	0.91196	3.185	0.26422	N	0.976084	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.98	T	0.61710	-0.7007	10	0.87932	D	0	.	13.2768	0.60191	0.0:1.0:0.0:0.0	.	159;98	B7Z3C6;Q96PL5	.;ERMAP_HUMAN	M	98;98;8	ENSP00000361595:T98M;ENSP00000361592:T98M;ENSP00000332439:T8M	ENSP00000332439:T8M	T	+	2	0	ERMAP	43069233	0.963000	0.33076	0.943000	0.38184	0.757000	0.42996	2.232000	0.43018	2.514000	0.84764	0.460000	0.39030	ACG		0.562	ERMAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000020180.1	NM_018538		22	45	0	0	0	0.639603	0	22	45					T	43296646	C	T	43296646	3	4	31	1	0	0	0	0	1	0	0	0	5234	536	19	1	299	1	ERMAP	1	43296646	Missense_Mutation	SNP	C	TCGA-CH-5765-01A-11D-1576-08	41955443	43296646	205953975	2	1523											
FLG	2312	broad.mit.edu	37	chr1	152284306	152284306	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttgcctgttcatgggatgacGcagcctgtccaccagaggaa	9	9	12	11	1	1	2	1	1	0	1	2	4	2	4	4	2	2	2	4	2	1	2	rs193210331	byFrequency	TCGA-CH-5765-01A-11D-1576-08	TCGA-CH-5765-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23762450-360d-4930-b53b-611e0041327a	8994a220-e271-46ea-b68f-28388545c317	g.chr1:152284306G>A	ENST00000368799.1	-	3	3091	c.3056C>T	c.(3055-3057)gCg>gTg	p.A1019V	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1019	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)	p.A1019V(1)		autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ATGGGATGACGCAGCCTGTCC	0.582									Ichthyosis				G|||	2	0.000399361	0	0	5008	,	,		20915	0.001		0.001	False		,,,				2504	0					ENST00000368799.1																			1	Substitution - Missense(1)	p.A1019V(1)	prostate(1)	autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424						c.(3055-3057)gCg>gTg		filaggrin		G	VAL/ALA	0,4406		0,0,2203	340	339	340		3056	-6.8	0	1		340	3,8597	3.7+/-12.6	0,3,4297	no	missense	FLG	NM_002016.1	64	0,3,6500	AA,AG,GG		0.0349,0.0,0.0231	benign	1019/4062	152284306	3,13003	2203	4300	6503	SO:0001583	missense	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152284306G>A	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"EF-hand domain containing"	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.3056C>T	1.37:g.152284306G>A	ENSP00000357789:p.Ala1019Val					FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	p.A1019V	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	3091	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1019			Ser-rich.		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	c.3056C>T	CCDS30860.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	7.401	0.632851	0.14322	0.0	3.49E-4	ENSG00000143631	ENST00000368799;ENST00000392689	T	0.00816	5.66	3.39	-6.78	0.01721	.	.	.	.	.	T	0.00300	0.0009	L	0.59912	1.85	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.45804	-0.9236	9	0.21540	T	0.41	.	0.8053	0.01083	0.3028:0.1557:0.3529:0.1886	.	1019	P20930	FILA_HUMAN	V	1019;226	ENSP00000357789:A1019V	ENSP00000357789:A1019V	A	-	2	0	FLG	150550930	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-3.451000	0.00466	-0.993000	0.03467	-2.367000	0.00236	GCG		0.582	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		288	577	0	0	0	0.870114	0	288	577					A	152284306	G	A	152284306	3	1	31	1	0	0	0	0	1	0	0	0	5922	1087	38	1	9133	1	FLG	1	152284306	Missense_Mutation	SNP	G	TCGA-CH-5765-01A-11D-1576-08	108987660	152284306	96966315	3	1524											
FCRL5	83416	broad.mit.edu	37	chr1	157504477	157504477	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgtgcagtagtaattcccTgaatgtccttcagtcagaga	10	12	10	9	0	2	2	2	1	0	1	4	3	4	2	2	0	1	4	2	0	3	4			TCGA-CH-5765-01A-11D-1576-08	TCGA-CH-5765-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23762450-360d-4930-b53b-611e0041327a	8994a220-e271-46ea-b68f-28388545c317	g.chr1:157504477T>C	ENST00000361835.3	-	8	1765	c.1608A>G	c.(1606-1608)tcA>tcG	p.S536S	FCRL5_ENST00000368191.3_Silent_p.S451S|FCRL5_ENST00000368189.3_Silent_p.S536S|FCRL5_ENST00000368190.3_Silent_p.S536S|FCRL5_ENST00000356953.4_Silent_p.S536S	NM_001195388.1|NM_031281.2	NP_001182317.1|NP_112571.2	Q96RD9	FCRL5_HUMAN	Fc receptor-like 5	536	Ig-like C2-type 5.				negative regulation of B cell receptor signaling pathway (GO:0050859)|negative regulation of release of sequestered calcium ion into cytosol (GO:0051280)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)		p.S536S(1)		breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	85	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)				AGTAATTCCCTGAATGTCCTT	0.512																																						ENST00000361835.3																			1	Substitution - coding silent(1)	p.S536S(1)	prostate(1)	breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	85						c.(1606-1608)tcA>tcG		Fc receptor-like 5							56	56	56					1																	157504477		2203	4300	6503	SO:0001819	synonymous_variant	83416					integral to membrane|plasma membrane	receptor activity	g.chr1:157504477T>C	AF369794	CCDS1165.1	1q21	2013-01-11			ENSG00000143297	ENSG00000143297		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	18508	protein-coding gene	gene with protein product		605877				11027651, 11290337	Standard	NM_031281		Approved	FCRH5, IRTA2, BXMAS1, CD307e	uc009wsm.3	Q96RD9	OTTHUMG00000017481	ENST00000361835.3:c.1608A>G	1.37:g.157504477T>C						FCRL5_ENST00000368190.3_Silent_p.S536S|FCRL5_ENST00000356953.4_Silent_p.S536S|FCRL5_ENST00000368189.3_Silent_p.S536S|FCRL5_ENST00000368191.3_Silent_p.S451S	p.S536S	NM_001195388.1|NM_031281.2	NP_001182317.1|NP_112571.2	Q96RD9	FCRL5_HUMAN			8	1765	-	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)	536			Ig-like C2-type 5.		A0N0M2|B7WNT9|B7WP94|Q495Q2|Q495Q4|Q5VYK9|Q6UY46	Silent	SNP	ENST00000361835.3	37	c.1608A>G	CCDS1165.1																																																																																				0.512	FCRL5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000046263.1	NM_031281		31	55	0	0	0	0.760397	0	31	55					C	157504477	T	C	157504477	2	2	31	1	0	0	0	0	0	0	0	1	5798	1567	55	4		4	FCRL5	1	157504477	Silent	SNP	T	TCGA-CH-5765-01A-11D-1576-08	5220171	157504477	91746144	4	1525											
TPR	7175	broad.mit.edu	37	chr1	186295344	186295344	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcatcttcatcatcatcatcAtcttcctcatcctcttcata	9	17	0	15	0	11	0	8	0	3	0	13	0	13	0	2	0	0	0	2	0	1	4			TCGA-CH-5765-01A-11D-1576-08	TCGA-CH-5765-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23762450-360d-4930-b53b-611e0041327a	8994a220-e271-46ea-b68f-28388545c317	g.chr1:186295344A>T	ENST00000367478.4	-	41	6209	c.5913T>A	c.(5911-5913)gaT>gaA	p.D1971E		NM_003292.2	NP_003283.2	P12270	TPR_HUMAN	translocated promoter region, nuclear basket protein	1971	Poly-Asp.				carbohydrate metabolic process (GO:0005975)|cellular response to heat (GO:0034605)|cellular response to interferon-alpha (GO:0035457)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|MAPK import into nucleus (GO:0000189)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope disassembly (GO:0007077)|mitotic spindle assembly checkpoint (GO:0007094)|mRNA export from nucleus in response to heat stress (GO:0031990)|negative regulation of RNA export from nucleus (GO:0046832)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of translational initiation (GO:0045947)|nuclear pore organization (GO:0006999)|positive regulation of heterochromatin assembly (GO:0031453)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090267)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of protein import into nucleus (GO:0042307)|protein import into nucleus (GO:0006606)|regulation of glucose transport (GO:0010827)|regulation of mitotic sister chromatid separation (GO:0010965)|regulation of spindle assembly involved in mitosis (GO:1901673)|response to epidermal growth factor (GO:0070849)|RNA export from nucleus (GO:0006405)|RNA import into nucleus (GO:0006404)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoplasmic dynein complex (GO:0005868)|extrinsic component of membrane (GO:0019898)|kinetochore (GO:0000776)|mitotic spindle (GO:0072686)|nuclear envelope (GO:0005635)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|dynein complex binding (GO:0070840)|heat shock protein binding (GO:0031072)|mitogen-activated protein kinase binding (GO:0051019)|mRNA binding (GO:0003729)|nucleocytoplasmic transporter activity (GO:0005487)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|tubulin binding (GO:0015631)	p.D1971E(2)|p.D1958E(1)		autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(9)|kidney(12)|large_intestine(23)|liver(1)|lung(45)|ovary(2)|pancreas(1)|prostate(6)|skin(3)|stomach(1)|urinary_tract(8)	123		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)		catcatcatcatcttcctcat	0.423			T	NTRK1	papillary thyroid																																	ENST00000367478.3				Dom	yes		1	1q25	7175	T	translocated promoter region			E	NTRK1		papillary thyroid		3	Substitution - Missense(3)	p.D1971E(2)|p.D1958E(1)	prostate(3)	autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(9)|kidney(12)|large_intestine(23)|liver(1)|lung(45)|ovary(2)|pancreas(1)|prostate(6)|skin(3)|stomach(1)|urinary_tract(8)	123						c.(5911-5913)gaT>gaA		translocated promoter region, nuclear basket protein							89	85	86					1																	186295344		2060	4205	6265	SO:0001583	missense	7175				carbohydrate metabolic process|glucose transport|mitotic cell cycle spindle assembly checkpoint|mRNA transport|protein import into nucleus|regulation of glucose transport|seryl-tRNA aminoacylation|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytoplasm|nuclear membrane|nuclear pore|nucleoplasm	ATP binding|protein binding|serine-tRNA ligase activity	g.chr1:186295344A>T	U69668	CCDS41446.1	1q25	2012-03-13	2012-03-13		ENSG00000047410	ENSG00000047410			12017	protein-coding gene	gene with protein product		189940	"translocated promoter region (to activated MET oncogene)"			1611909, 15229283	Standard	NM_003292		Approved		uc001grv.3	P12270	OTTHUMG00000035580	ENST00000367478.4:c.5913T>A	1.37:g.186295344A>T	ENSP00000356448:p.Asp1971Glu						p.D1971E	NM_003292.2	NP_003283.2	P12270	TPR_HUMAN		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)	41	6209	-		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)	1971			Poly-Asp.		Q15655|Q5SWY0|Q99968	Missense_Mutation	SNP	ENST00000367478.4	37	c.5913T>A	CCDS41446.1	.	.	.	.	.	.	.	.	.	.	A	0.004	-2.380356	0.00205	.	.	ENSG00000047410	ENST00000367478	T	0.29917	1.55	4.03	-8.06	0.01102	.	1.066870	0.07167	N	0.851712	T	0.12347	0.0300	N	0.25890	0.77	0.21355	N	0.999713	B	0.02656	0.0	B	0.01281	0.0	T	0.25502	-1.0130	10	0.05351	T	0.99	.	2.0739	0.03619	0.2947:0.0732:0.2235:0.4085	.	1971	P12270	TPR_HUMAN	E	1971	ENSP00000356448:D1971E	ENSP00000356448:D1971E	D	-	3	2	TPR	184561967	0.017000	0.18338	0.023000	0.16930	0.542000	0.35054	-2.198000	0.01239	-4.545000	0.00043	-2.200000	0.00306	GAT		0.423	TPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086353.2	NM_003292		27	49	0	0	0	0.667858	0	27	49					T	186295344	A	T	186295344	3	4	31	1	0	0	0	0	1	0	0	0	16413	214	8	5	1222	5	TPR	1	186295344	Missense_Mutation	SNP	A	TCGA-CH-5765-01A-11D-1576-08	28790867	186295344	62955277	5	1526											
USH2A	7399	broad.mit.edu	37	chr1	216052411	216052411	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcatagctaagtatgtctccGttctggatgagtgggggttt	7	15	13	6	1	3	1	1	1	2	0	4	2	3	2	1	3	1	4	1	3	3	5	rs368877266		TCGA-CH-5765-01A-11D-1576-08	TCGA-CH-5765-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23762450-360d-4930-b53b-611e0041327a	8994a220-e271-46ea-b68f-28388545c317	g.chr1:216052411G>A	ENST00000307340.3	-	42	8639	c.8253C>T	c.(8251-8253)aaC>aaT	p.N2751N	USH2A_ENST00000366943.2_Silent_p.N2751N	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	2751	Fibronectin type-III 14. {ECO:0000255|PROSITE-ProRule:PRU00316}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)	p.N2751N(1)		NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		GTATGTCTCCGTTCTGGATGA	0.418										HNSCC(13;0.011)																												ENST00000366943.2																			1	Substitution - coding silent(1)	p.N2751N(1)	prostate(1)	NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527						c.(8251-8253)aaC>aaT		Usher syndrome 2A (autosomal recessive, mild)		G		0,4406		0,0,2203	113	119	117		8253	2.3	1	1		117	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	USH2A	NM_206933.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		2751/5203	216052411	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	7399				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	g.chr1:216052411G>A	AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"Fibronectin type III domain containing"	12601	protein-coding gene	gene with protein product	"usherin"	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.8253C>T	1.37:g.216052411G>A		HNSCC(13;0.011)				USH2A_ENST00000307340.3_Silent_p.N2751N	p.N2751N			O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	42	8639	-			2751			Fibronectin type-III 14.		Q5VVM9|Q6S362|Q9NS27	Silent	SNP	ENST00000307340.3	37	c.8253C>T	CCDS31025.1																																																																																				0.418	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		60	111	0	0	0	0.870114	0	60	111					A	216052411	G	A	216052411	2	1	31	1	0	0	0	0	0	0	0	1	17033	1136	40	1		1	USH2A	1	216052411	Silent	SNP	G	TCGA-CH-5765-01A-11D-1576-08	29757067	216052411	33198210	6	1527											
OR2C3	81472	broad.mit.edu	37	chr1	247695757	247695757	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtttctagtgagggtcgtgtGgagaagcccaggaggacaaa	11	8	16	6	1	1	2	0	1	1	1	2	5	1	4	1	4	1	1	1	4	3	2	rs61746303|rs386641879	byFrequency	TCGA-CH-5765-01A-11D-1576-08	TCGA-CH-5765-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23762450-360d-4930-b53b-611e0041327a	8994a220-e271-46ea-b68f-28388545c317	g.chr1:247695757G>A	ENST00000366487.3	-	2	418	c.57C>T	c.(55-57)tcC>tcT	p.S19S	GCSAML_ENST00000366490.3_Intron|GCSAML_ENST00000463359.1_Intron|GCSAML_ENST00000527084.1_Intron|GCSAML_ENST00000527541.1_Intron|GCSAML_ENST00000366491.2_Intron|GCSAML_ENST00000366489.1_Intron|GCSAML_ENST00000531662.1_Intron	NM_198074.4	NP_932340	Q8N628	OR2C3_HUMAN	olfactory receptor, family 2, subfamily C, member 3	19						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S19S(1)|p.S18S(1)		breast(1)|endometrium(5)|large_intestine(2)|lung(31)|ovary(1)|prostate(1)|skin(2)	43	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0242)	OV - Ovarian serous cystadenocarcinoma(106;0.0241)			AGGGTCGTGTGGAGAAGCCCA	0.488													G|||	14	0.00279553	0.0098	0.0014	5008	,	,		19865	0		0	False		,,,				2504	0					ENST00000366487.3																			2	Substitution - coding silent(2)	p.S19S(1)|p.S18S(1)	prostate(2)	breast(1)|endometrium(5)|large_intestine(2)|lung(31)|ovary(1)|prostate(1)|skin(2)	43						c.(55-57)tcC>tcT		olfactory receptor, family 2, subfamily C, member 3		G		8,4398	2.1+/-5.4	0,8,2195	78	73	74		57	-1.9	0.2	1	dbSNP_129	74	0,8600		0,0,4300	no	coding-synonymous	OR2C3	NM_198074.4		0,8,6495	AA,AG,GG		0.0,0.1816,0.0615		19/321	247695757	8,12998	2203	4300	6503	SO:0001819	synonymous_variant	81472				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:247695757G>A	BC030717	CCDS1634.2	1q44	2014-02-19	2002-02-28		ENSG00000196242	ENSG00000196242		"GPCR / Class A : Olfactory receptors"	15005	protein-coding gene	gene with protein product			"olfactory receptor, family 2, subfamily C, member 4"	OR2C4, OR2C5P			Standard	NM_198074		Approved	OST742	uc009xgy.3	Q8N628	OTTHUMG00000040579	ENST00000366487.3:c.57C>T	1.37:g.247695757G>A						GCSAML_ENST00000366490.3_Intron|GCSAML_ENST00000366489.1_Intron|GCSAML_ENST00000531662.1_Intron|GCSAML_ENST00000463359.1_Intron|GCSAML_ENST00000527084.1_Intron|GCSAML_ENST00000527541.1_Intron|GCSAML_ENST00000366491.2_Intron	p.S19S	NM_198074.4	NP_932340.3	Q8N628	OR2C3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0241)		2	418	-	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0242)	19					Q5JQS4|Q6IEZ1|Q8NGW7	Silent	SNP	ENST00000366487.3	37	c.57C>T	CCDS1634.2																																																																																				0.488	OR2C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097626.2	NM_198074		46	87	0	0	0	0.870114	0	46	87					A	247695757	G	A	247695757	2	1	31	1	0	0	0	0	0	0	0	1	10993	1335	47	3		3	OR2C3	1	247695757	Silent	SNP	G	TCGA-CH-5765-01A-11D-1576-08	31643346	247695757	1554864	7	1528											
DHX57	90957	broad.mit.edu	37	chr2	39088318	39088318	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcttcctctaaaagggttaTcaaagaatatacgacaggtt	14	12	7	8	1	3	1	1	0	2	1	4	2	4	1	1	2	1	2	1	2	7	6			TCGA-CH-5765-01A-11D-1576-08	TCGA-CH-5765-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23762450-360d-4930-b53b-611e0041327a	8994a220-e271-46ea-b68f-28388545c317	g.chr2:39088318T>C	ENST00000295373.6	-	5	1360	c.1234A>G	c.(1234-1236)Ata>Gta	p.I412V	DHX57_ENST00000479345.2_5'UTR|AC018693.6_ENST00000442829.1_RNA	NM_198963.1	NP_945314.1	Q6P158	DHX57_HUMAN	DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57	412							ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.I412V(1)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(20)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	62		all_hematologic(82;0.248)				AAAAGGGTTATCAAAGAATAT	0.423																																					Melanoma(191;1090 2095 4375 23729 47341)	ENST00000295373.6																			1	Substitution - Missense(1)	p.I412V(1)	prostate(1)	NS(2)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(20)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						c.(1234-1236)Ata>Gta		DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57							106	108	108					2																	39088318		2203	4300	6503	SO:0001583	missense	90957						ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding|zinc ion binding	g.chr2:39088318T>C	AF070590	CCDS1800.1	2p22.3	2008-02-05			ENSG00000163214	ENSG00000163214		"DEAH-boxes"	20086	protein-coding gene	gene with protein product							Standard	NM_198963		Approved	DDX57	uc002rrf.3	Q6P158	OTTHUMG00000102103	ENST00000295373.6:c.1234A>G	2.37:g.39088318T>C	ENSP00000295373:p.Ile412Val					DHX57_ENST00000479345.2_5'UTR	p.I412V	NM_198963.1	NP_945314.1	Q6P158	DHX57_HUMAN			5	1360	-		all_hematologic(82;0.248)	412					A2RRC7|Q53SI4|Q6P9G1|Q7Z6H3|Q8NG17|Q96M33	Missense_Mutation	SNP	ENST00000295373.6	37	c.1234A>G	CCDS1800.1	.	.	.	.	.	.	.	.	.	.	T	9.874	1.199748	0.22121	.	.	ENSG00000163214	ENST00000295373;ENST00000355320	T	0.25912	1.77	5.67	5.67	0.87782	Ubiquitin-conjugating enzyme/RWD-like (1);RWD domain (1);	0.106321	0.43579	D	0.000553	T	0.17662	0.0424	L	0.32530	0.975	0.41776	D	0.98979	B;B	0.20671	0.047;0.004	B;B	0.25405	0.06;0.028	T	0.12041	-1.0563	10	0.12766	T	0.61	.	8.039	0.30511	0.0:0.1547:0.0:0.8453	.	412;412	Q6P158-2;Q6P158	.;DHX57_HUMAN	V	412;310	ENSP00000295373:I412V	ENSP00000295373:I412V	I	-	1	0	DHX57	38941822	0.997000	0.39634	1.000000	0.80357	0.624000	0.37722	2.014000	0.40951	2.164000	0.68074	0.533000	0.62120	ATA		0.423	DHX57-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219940.2	NM_145646		106	149	0	0	0	0.870114	0	106	149					C	39088318	T	C	39088318	3	2	31	1	0	0	0	0	1	0	0	0	4513	1435	50	4	3006	4	DHX57	2	39088318	Missense_Mutation	SNP	T	TCGA-CH-5765-01A-11D-1576-08		39088318	204111055	8	1529											
ARID5A	10865	broad.mit.edu	37	chr2	97216444	97216444	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ccaccgagaggccgaagaagGccaaggaggagcggcgcatg	12	1	17	11	4	0	2	0	0	0	2	0	6	0	4	4	5	1	1	4	5	3	0			TCGA-CH-5765-01A-11D-1576-08	TCGA-CH-5765-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23762450-360d-4930-b53b-611e0041327a	8994a220-e271-46ea-b68f-28388545c317	g.chr2:97216444G>A	ENST00000357485.3	+	6	622	c.544G>A	c.(544-546)Gcc>Acc	p.A182T	ARID5A_ENST00000454558.2_Missense_Mutation_p.A114T	NM_212481.1	NP_997646.1	Q03989	ARI5A_HUMAN	AT rich interactive domain 5A (MRF1-like)	182					chondrocyte differentiation (GO:0002062)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of histone acetylation (GO:0035066)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)	p.A182T(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|skin(1)|urinary_tract(2)	14						GCCGAAGAAGGCCAAGGAGGA	0.647																																						ENST00000454558.2																			1	Substitution - Missense(1)	p.A182T(1)	prostate(1)	endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|skin(1)|urinary_tract(2)	14						c.(340-342)Gcc>Acc		AT rich interactive domain 5A (MRF1-like)							27	21	23					2																	97216444		2193	4297	6490	SO:0001583	missense	10865				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding	g.chr2:97216444G>A	M62324	CCDS33251.1	2p11.1	2013-02-07			ENSG00000196843	ENSG00000196843		"-"	17361	protein-coding gene	gene with protein product	"modulator recognition factor 1"	611583				8649988	Standard	NM_212481		Approved	MRF-1, RP11-363D14	uc002swe.3	Q03989	OTTHUMG00000155229	ENST00000357485.3:c.544G>A	2.37:g.97216444G>A	ENSP00000350078:p.Ala182Thr					ARID5A_ENST00000357485.3_Missense_Mutation_p.A182T	p.A114T			Q03989	ARI5A_HUMAN			6	1517	+			182			ARID.		Q6NX37	Missense_Mutation	SNP	ENST00000357485.3	37	c.340G>A	CCDS33251.1	.	.	.	.	.	.	.	.	.	.	g	15.63	2.889686	0.52014	.	.	ENSG00000196843	ENST00000357485;ENST00000359765;ENST00000454558	T	0.65178	-0.14	4.69	2.85	0.33270	.	0.905863	0.09088	N	0.850286	T	0.53045	0.1772	L	0.60455	1.87	0.25440	N	0.988108	B;B;B	0.22276	0.067;0.005;0.009	B;B;B	0.12837	0.008;0.007;0.004	T	0.40079	-0.9582	10	0.16420	T	0.52	-6.5136	6.1546	0.20330	0.1015:0.1897:0.7088:0.0	.	182;114;182	A6NM59;C9J1Q0;Q03989	.;.;ARI5A_HUMAN	T	182;182;114	ENSP00000350078:A182T	ENSP00000350078:A182T	A	+	1	0	ARID5A	96580171	0.966000	0.33281	0.988000	0.46212	0.446000	0.32137	0.645000	0.24782	0.566000	0.29273	-0.258000	0.10820	GCC		0.647	ARID5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338888.2	NM_212481		8	5	0	0	0	0.335167	0	8	5					A	97216444	G	A	97216444	3	1	31	1	0	0	0	0	1	0	0	0	921	1203	42	3	566	3	ARID5A	2	97216444	Missense_Mutation	SNP	G	TCGA-CH-5765-01A-11D-1576-08	58128126	97216444	145982929	9	1530											
TTN	7273	broad.mit.edu	37	chr2	179477937	179477937	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttgatttgcttggttttccAggtccagcaagattttcagc	7	16	10	8	0	1	2	1	1	0	1	3	2	3	2	2	2	3	4	2	2	1	7			TCGA-CH-5765-01A-11D-1576-08	TCGA-CH-5765-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23762450-360d-4930-b53b-611e0041327a	8994a220-e271-46ea-b68f-28388545c317	g.chr2:179477937A>G	ENST00000591111.1	-	214	44900	c.44676T>C	c.(44674-44676)ccT>ccC	p.P14892P	TTN_ENST00000359218.5_Silent_p.P7593P|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000460472.2_Silent_p.P7468P|TTN_ENST00000342992.6_Silent_p.P13965P|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000589042.1_Silent_p.P16533P|TTN_ENST00000342175.6_Silent_p.P7660P|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589907.1_RNA			Q8WZ42	TITIN_HUMAN	titin	14892	Fibronectin type-III 7. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTGGTTTTCCAGGTCCAGCAA	0.338																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(49597-49599)ccT>ccC		titin							89	84	85					2																	179477937		1828	4079	5907	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179477937A>G	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.44676T>C	2.37:g.179477937A>G						TTN_ENST00000359218.5_Silent_p.P7593P|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000591111.1_Silent_p.P14892P|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Silent_p.P7660P|TTN_ENST00000460472.2_Silent_p.P7468P|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342992.6_Silent_p.P13965P|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000589907.1_RNA	p.P16533P	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		264	49823	-			14892			Fibronectin type-III 20.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	ENST00000591111.1	37	c.49599T>C																																																																																					0.338	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		3	86	0	0	0	0.115264	0	3	86					G	179477937	A	G	179477937	2	3	31	1	0	0	0	0	0	0	0	1	16732	175	7	4		4	TTN	2	179477937	Silent	SNP	A	TCGA-CH-5765-01A-11D-1576-08	82261493	179477937	63721436	10	1531											
STAT4	6775	broad.mit.edu	37	chr2	191922752	191922752	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgccaaacttaccaaatgtcGaaattctactgagagactcc	14	10	6	11	1	1	2	0	1	1	1	3	4	2	2	3	0	4	0	3	0	5	3			TCGA-CH-5765-01A-11D-1576-08	TCGA-CH-5765-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23762450-360d-4930-b53b-611e0041327a	8994a220-e271-46ea-b68f-28388545c317	g.chr2:191922752G>A	ENST00000392320.2	-	13	1512	c.1198C>T	c.(1198-1200)Cga>Tga	p.R400*	STAT4_ENST00000358470.4_Nonsense_Mutation_p.R400*	NM_003151.3	NP_003142.1	Q14765	STAT4_HUMAN	signal transducer and activator of transcription 4	400					cell proliferation (GO:0008283)|cytokine-mediated signaling pathway (GO:0019221)|JAK-STAT cascade (GO:0007259)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)	p.R400*(1)		breast(4)|endometrium(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.0864)|all cancers(119;0.204)			ACCAAATGTCGAAATTCTACT	0.363																																						ENST00000392320.2																			1	Substitution - Nonsense(1)	p.R400*(1)	prostate(1)	breast(4)|endometrium(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	42						c.(1198-1200)Cga>Tga		signal transducer and activator of transcription 4							76	76	76					2																	191922752		2203	4300	6503	SO:0001587	stop_gained	6775				JAK-STAT cascade	cytoplasm|nucleus	calcium ion binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr2:191922752G>A		CCDS2310.1	2q32.2-q32.3	2013-02-14			ENSG00000138378	ENSG00000138378		"SH2 domain containing"	11365	protein-coding gene	gene with protein product		600558				8007943, 8700208	Standard	NM_003151		Approved		uc002usn.2	Q14765	OTTHUMG00000132700	ENST00000392320.2:c.1198C>T	2.37:g.191922752G>A	ENSP00000376134:p.Arg400*					STAT4_ENST00000358470.4_Nonsense_Mutation_p.R400*	p.R400*	NM_003151.3	NP_003142.1	Q14765	STAT4_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.0864)|all cancers(119;0.204)		13	1512	-			400					Q96NZ6	Nonsense_Mutation	SNP	ENST00000392320.2	37	c.1198C>T	CCDS2310.1	.	.	.	.	.	.	.	.	.	.	G	39	7.638565	0.98406	.	.	ENSG00000138378	ENST00000358470;ENST00000392320	.	.	.	5.38	3.49	0.39957	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-33.9759	13.3789	0.60757	0.0:0.0:0.5118:0.4882	.	.	.	.	X	400	.	ENSP00000351255:R400X	R	-	1	2	STAT4	191630997	1.000000	0.71417	0.999000	0.59377	0.983000	0.72400	2.817000	0.48034	0.666000	0.31087	0.585000	0.79938	CGA		0.363	STAT4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335586.1	NM_003151		45	78	0	0	0	0.859065	0	45	78					A	191922752	G	A	191922752	4	1	31	1	0	0	0	0	0	1	0	0	15266	1066	37	2	1096	2	STAT4	2	191922752	Nonsense_Mutation	SNP	G	TCGA-CH-5765-01A-11D-1576-08	12444815	191922752	51276621	11	1532											
MYNN	55892	broad.mit.edu	37	chr3	169497118	169497118	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aagaacactctatgtctaatAtagccagcgtcaagagtcct	14	10	7	10	1	3	2	1	0	2	2	4	2	4	2	2	0	3	0	2	0	7	4			TCGA-CH-5765-01A-11D-1576-08	TCGA-CH-5765-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23762450-360d-4930-b53b-611e0041327a	8994a220-e271-46ea-b68f-28388545c317	g.chr3:169497118A>G	ENST00000349841.5	+	3	1492	c.829A>G	c.(829-831)Ata>Gta	p.I277V	MYNN_ENST00000544106.1_Missense_Mutation_p.I277V|MYNN_ENST00000392733.1_Missense_Mutation_p.I277V|RP11-362K14.5_ENST00000602342.1_RNA|MYNN_ENST00000356716.4_Missense_Mutation_p.I277V	NM_018657.4	NP_061127.1	Q9NPC7	MYNN_HUMAN	myoneurin	277					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.I277V(1)		breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16	all_cancers(22;9.55e-22)|all_epithelial(15;2.04e-26)|all_lung(20;5.05e-16)|Lung NSC(18;2.19e-15)|Ovarian(172;0.000223)|Breast(254;0.197)		Epithelial(2;4.03e-64)|all cancers(2;2.19e-58)|Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00676)			TATGTCTAATATAGCCAGCGT	0.458																																						ENST00000349841.5																			1	Substitution - Missense(1)	p.I277V(1)	prostate(1)	breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16						c.(829-831)Ata>Gta		myoneurin							54	47	49					3																	169497118		2203	4300	6503	SO:0001583	missense	55892					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr3:169497118A>G	AF148848	CCDS3207.1, CCDS54671.1	3q26.31	2013-01-09			ENSG00000085274	ENSG00000085274		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	14955	protein-coding gene	gene with protein product		606042				10873615	Standard	NM_001185118		Approved	SBBIZ1, ZBTB31, ZNF902	uc010hwo.3	Q9NPC7		ENST00000349841.5:c.829A>G	3.37:g.169497118A>G	ENSP00000326240:p.Ile277Val					MYNN_ENST00000356716.4_Missense_Mutation_p.I277V|MYNN_ENST00000544106.1_Missense_Mutation_p.I277V|MYNN_ENST00000392733.1_Missense_Mutation_p.I277V|RP11-362K14.5_ENST00000602342.1_RNA	p.I277V	NM_018657.4	NP_061127.1	Q9NPC7	MYNN_HUMAN	Epithelial(2;4.03e-64)|all cancers(2;2.19e-58)|Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00676)		3	1492	+	all_cancers(22;9.55e-22)|all_epithelial(15;2.04e-26)|all_lung(20;5.05e-16)|Lung NSC(18;2.19e-15)|Ovarian(172;0.000223)|Breast(254;0.197)		277					B2R6C9|Q6QHA6|Q6QHA7|Q6R3G1|Q6R3G2|Q6R4A0|Q7Z716|Q7Z717|Q86Z11|Q86Z12|Q9NS01|Q9UIW8	Missense_Mutation	SNP	ENST00000349841.5	37	c.829A>G	CCDS3207.1	.	.	.	.	.	.	.	.	.	.	A	9.432	1.085908	0.20390	.	.	ENSG00000085274	ENST00000356716;ENST00000349841;ENST00000392733;ENST00000544106	T;T;T;T	0.08807	3.21;3.21;3.05;3.05	5.38	4.23	0.50019	.	0.059687	0.64402	D	0.000002	T	0.08179	0.0204	N	0.14661	0.345	0.36924	D	0.891551	B;P	0.35745	0.005;0.518	B;P	0.44647	0.011;0.456	T	0.37174	-0.9717	10	0.48119	T	0.1	.	10.918	0.47148	0.9262:0.0:0.0737:0.0	.	277;277	Q9NPC7-2;Q9NPC7	.;MYNN_HUMAN	V	277	ENSP00000349150:I277V;ENSP00000326240:I277V;ENSP00000376492:I277V;ENSP00000440637:I277V	ENSP00000326240:I277V	I	+	1	0	MYNN	170979812	0.989000	0.36119	1.000000	0.80357	0.880000	0.50808	2.468000	0.45102	2.167000	0.68274	0.528000	0.53228	ATA		0.458	MYNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467801.1	NM_018657		28	59	0	0	0	0.706142	0	28	59					G	169497118	A	G	169497118	3	3	31	1	0	0	0	0	1	0	0	0	10061	449	16	4	835	4	MYNN	3	169497118	Missense_Mutation	SNP	A	TCGA-CH-5765-01A-11D-1576-08		169497118	28525312	12	1533											
ADH4	127	broad.mit.edu	37	chr4	100062745	100062745	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttccacaatacctgcagccTcatggccaacgatcactggg	10	9	8	14	1	2	0	2	0	0	0	3	1	3	0	4	2	4	1	4	2	3	2			TCGA-CH-5765-01A-11D-1576-08	TCGA-CH-5765-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23762450-360d-4930-b53b-611e0041327a	8994a220-e271-46ea-b68f-28388545c317	g.chr4:100062745T>C	ENST00000265512.7	-	3	283	c.209A>G	c.(208-210)gAg>gGg	p.E70G	ADH4_ENST00000504581.1_5'Flank|ADH4_ENST00000508393.1_Missense_Mutation_p.E89G|RP11-696N14.1_ENST00000500358.2_RNA|ADH4_ENST00000505590.1_Missense_Mutation_p.E89G|ADH4_ENST00000423445.1_Missense_Mutation_p.E89G	NM_000670.3	NP_000661.2	P08319	ADH4_HUMAN	alcohol dehydrogenase 4 (class II), pi polypeptide	70					alcohol catabolic process (GO:0046164)|alcohol metabolic process (GO:0006066)|cellular aldehyde metabolic process (GO:0006081)|ethanol oxidation (GO:0006069)|quinone metabolic process (GO:1901661)|retinoid metabolic process (GO:0001523)|retinol metabolic process (GO:0042572)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	alcohol dehydrogenase (NAD) activity (GO:0004022)|alcohol dehydrogenase activity, zinc-dependent (GO:0004024)|alditol:NADP+ 1-oxidoreductase activity (GO:0004032)|all-trans retinal binding (GO:0005503)|benzaldehyde dehydrogenase activity (GO:0019115)|ethanol binding (GO:0035276)|NAD binding (GO:0051287)|NADPH:quinone reductase activity (GO:0003960)|oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor (GO:0016620)|retinol binding (GO:0019841)|retinol dehydrogenase activity (GO:0004745)|zinc ion binding (GO:0008270)			NS(1)|cervix(1)|large_intestine(2)|liver(2)|lung(8)|prostate(2)|skin(2)	18				OV - Ovarian serous cystadenocarcinoma(123;4.48e-08)		ACCTGCAGCCTCATGGCCAAC	0.418																																						ENST00000508393.1																			0				NS(1)|cervix(1)|large_intestine(2)|liver(2)|lung(8)|prostate(2)|skin(2)	18						c.(265-267)gAg>gGg		alcohol dehydrogenase 4 (class II), pi polypeptide	NADH(DB00157)						98	86	90					4																	100062745		2203	4300	6503	SO:0001583	missense	127				alcohol catabolic process|cellular aldehyde metabolic process|ethanol oxidation|quinone cofactor metabolic process|retinol metabolic process|xenobiotic metabolic process	cytosol|microtubule cytoskeleton	alcohol dehydrogenase activity, zinc-dependent|all-trans retinal binding|benzaldehyde dehydrogenase activity|NAD binding|NADPH:quinone reductase activity|retinol binding|retinol dehydrogenase activity|zinc ion binding	g.chr4:100062745T>C	M15943	CCDS34032.1	4q22	2008-02-05				ENSG00000198099	1.1.1.1	"Alcohol dehydrogenases"	252	protein-coding gene	gene with protein product		103740					Standard	NM_000670		Approved	ADH-2	uc003hun.3	P08319		ENST00000265512.7:c.209A>G	4.37:g.100062745T>C	ENSP00000265512:p.Glu70Gly					ADH4_ENST00000505590.1_Missense_Mutation_p.E89G|ADH4_ENST00000265512.7_Missense_Mutation_p.E70G|RP11-696N14.1_ENST00000500358.2_RNA|ADH4_ENST00000423445.1_Missense_Mutation_p.E89G	p.E89G			P08319	ADH4_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;4.48e-08)	4	431	-			70					A8K470|B4DIE7|C9J4A9|Q8TCD7	Missense_Mutation	SNP	ENST00000265512.7	37	c.266A>G	CCDS34032.1	.	.	.	.	.	.	.	.	.	.	T	21.5	4.159072	0.78226	.	.	ENSG00000198099	ENST00000508393;ENST00000265512;ENST00000423445;ENST00000505590;ENST00000512499;ENST00000504125	T;T;T;T;T;T	0.19532	2.14;2.14;2.14;2.14;2.14;2.14	4.44	3.27	0.37495	GroES-like (1);Alcohol dehydrogenase GroES-like (1);Alcohol dehydrogenase, zinc-type, conserved site (1);	0.000000	0.64402	D	0.000001	T	0.64713	0.2623	H	0.99789	4.78	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.998	T	0.74542	-0.3631	10	0.87932	D	0	-0.823	9.6217	0.39725	0.0:0.082:0.0:0.918	.	89;70	P08319-2;P08319	.;ADH4_HUMAN	G	89;70;89;89;89;70	ENSP00000424630:E89G;ENSP00000265512:E70G;ENSP00000397939:E89G;ENSP00000425416:E89G;ENSP00000423571:E89G;ENSP00000427525:E70G	ENSP00000265512:E70G	E	-	2	0	ADH4	100281768	1.000000	0.71417	0.996000	0.52242	0.976000	0.68499	4.911000	0.63328	0.757000	0.33036	0.533000	0.62120	GAG		0.418	ADH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364220.2	NM_000670		3	101	0	0	0	0.115264	0	3	101					C	100062745	T	C	100062745	3	2	31	1	0	0	0	0	1	0	0	0	310	1551	54	4	961	4	ADH4	4	100062745	Missense_Mutation	SNP	T	TCGA-CH-5765-01A-11D-1576-08		100062745	91091531	13	1534											
TNIP3	79931	broad.mit.edu	37	chr4	122063932	122063932	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccatctgacaagcttttatCtaaagacaaaacaaaggcat	17	10	5	9	0	2	2	0	1	2	1	3	2	3	2	1	1	2	2	1	1	7	3			TCGA-CH-5765-01A-11D-1576-08	TCGA-CH-5765-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23762450-360d-4930-b53b-611e0041327a	8994a220-e271-46ea-b68f-28388545c317	g.chr4:122063932C>A	ENST00000509841.1	-	11	1045		c.e11-1		TNIP3_ENST00000057513.3_Splice_Site|TNIP3_ENST00000507879.1_Splice_Site|TNIP3_ENST00000454328.1_Splice_Site|TNIP3_ENST00000511909.1_Splice_Site	NM_001244764.1	NP_001231693.1			TNFAIP3 interacting protein 3									p.?(1)		NS(1)|endometrium(4)|large_intestine(4)|lung(9)|ovary(1)|prostate(3)|skin(2)	24						AAGCTTTTATCTAAAGACAAA	0.338																																						ENST00000454328.1																			1	Unknown(1)	p.?(1)	prostate(1)	NS(1)|endometrium(4)|large_intestine(4)|lung(9)|ovary(1)|prostate(3)|skin(2)	24						c.e10-1		TNFAIP3 interacting protein 3							136	139	138					4																	122063932		2203	4300	6503	SO:0001630	splice_region_variant	79931							g.chr4:122063932C>A	AJ320534	CCDS3718.1, CCDS58925.1, CCDS58926.1	4q27	2008-02-05			ENSG00000050730	ENSG00000050730			19315	protein-coding gene	gene with protein product		608019				11345586	Standard	NM_024873		Approved	LIND, FLJ21162, ABIN-3	uc021xrj.1	Q96KP6	OTTHUMG00000132969	ENST00000509841.1:c.967-1G>T	4.37:g.122063932C>A						TNIP3_ENST00000509841.1_Splice_Site|TNIP3_ENST00000507879.1_Splice_Site|TNIP3_ENST00000057513.3_Splice_Site|TNIP3_ENST00000511909.1_Splice_Site				Q96KP6	TNIP3_HUMAN			10	963	-									Splice_Site	SNP	ENST00000509841.1	37		CCDS58926.1	.	.	.	.	.	.	.	.	.	.	C	14.13	2.443662	0.43429	.	.	ENSG00000050730	ENST00000057513;ENST00000454328;ENST00000507879;ENST00000509841	.	.	.	4.83	4.83	0.62350	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.6625	0.77199	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TNIP3	122283382	1.000000	0.71417	0.991000	0.47740	0.614000	0.37383	2.262000	0.43285	2.611000	0.88343	0.650000	0.86243	.		0.338	TNIP3-003	PUTATIVE	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364000.4	NM_024873	Intron	34	163	1	0	2.47316e-13	0.779181	2.94597e-13	34	163					A	122063932	C	A	122063932	5	1	31	1	0	0	0	0	0	0	1	0	16313	927	32	5	258	5	TNIP3	4	122063932	Splice_Site	SNP	C	TCGA-CH-5765-01A-11D-1576-08	22001187	122063932	69090344	14	1535											
NEK1	4750	broad.mit.edu	37	chr4	170458976	170458976	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ataccatatgtccttcggctCgagctttattctgcatagct	8	15	7	11	2	1	0	0	0	1	0	4	1	2	0	2	1	4	4	2	1	4	7			TCGA-CH-5765-01A-11D-1576-08	TCGA-CH-5765-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23762450-360d-4930-b53b-611e0041327a	8994a220-e271-46ea-b68f-28388545c317	g.chr4:170458976C>T	ENST00000439128.2	-	18	2289	c.1649G>A	c.(1648-1650)cGa>cAa	p.R550Q	NEK1_ENST00000511633.1_Missense_Mutation_p.R506Q|NEK1_ENST00000512193.1_Missense_Mutation_p.R481Q|NEK1_ENST00000507142.1_Missense_Mutation_p.R550Q|NEK1_ENST00000510533.1_Missense_Mutation_p.R506Q	NM_012224.2	NP_036356.1	Q96PY6	NEK1_HUMAN	NIMA-related kinase 1	550					cellular response to DNA damage stimulus (GO:0006974)|cilium assembly (GO:0042384)|mitotic nuclear division (GO:0007067)|response to ionizing radiation (GO:0010212)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|pericentriolar material (GO:0000242)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)	p.R550Q(2)		NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|stomach(1)	45		Prostate(90;0.00601)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0287)|KIRC - Kidney renal clear cell carcinoma(143;0.0325)|Kidney(143;0.0385)|LUSC - Lung squamous cell carcinoma(193;0.14)		TCCTTCGGCTCGAGCTTTATT	0.383																																						ENST00000439128.2																			2	Substitution - Missense(2)	p.R550Q(2)	prostate(2)	NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|stomach(1)	45						c.(1648-1650)cGa>cAa		NIMA-related kinase 1							260	249	252					4																	170458976		1854	4090	5944	SO:0001583	missense	4750				cell division|cilium assembly|mitosis	nucleus|pericentriolar material	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr4:170458976C>T	AB067488	CCDS47162.1, CCDS56348.1, CCDS56349.1, CCDS56350.1, CCDS56351.1	4q32.3	2012-11-15	2012-11-15		ENSG00000137601	ENSG00000137601			7744	protein-coding gene	gene with protein product		604588	"NIMA (never in mitosis gene a)-related kinase 1"			1382974, 8274451	Standard	NM_012224		Approved	NY-REN-55, KIAA1901	uc003isd.2	Q96PY6	OTTHUMG00000160963	ENST00000439128.2:c.1649G>A	4.37:g.170458976C>T	ENSP00000408020:p.Arg550Gln					NEK1_ENST00000512193.1_Missense_Mutation_p.R481Q|NEK1_ENST00000510533.1_Missense_Mutation_p.R506Q|NEK1_ENST00000507142.1_Missense_Mutation_p.R550Q|NEK1_ENST00000511633.1_Missense_Mutation_p.R506Q	p.R550Q	NM_012224.2	NP_036356.1	Q96PY6	NEK1_HUMAN		GBM - Glioblastoma multiforme(119;0.0287)|KIRC - Kidney renal clear cell carcinoma(143;0.0325)|Kidney(143;0.0385)|LUSC - Lung squamous cell carcinoma(193;0.14)	18	2289	-		Prostate(90;0.00601)|Renal(120;0.0183)	550					G5E9Z3|Q05DG5|Q14CB7|Q5H9T1|Q6PIB8|Q96SS2|Q9H6P7|Q9Y594	Missense_Mutation	SNP	ENST00000439128.2	37	c.1649G>A	CCDS47162.1	.	.	.	.	.	.	.	.	.	.	C	30	5.057485	0.93846	.	.	ENSG00000137601	ENST00000439128;ENST00000511633;ENST00000510533;ENST00000507142;ENST00000512193	T;D;T;T;T	0.85258	-1.0;-1.96;-0.74;-1.39;-0.74	5.82	5.82	0.92795	.	0.000000	0.53938	D	0.000049	D	0.92179	0.7520	M	0.71581	2.175	0.58432	D	0.999999	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;0.999;1.0;0.999;0.999	D	0.91262	0.5037	10	0.48119	T	0.1	.	19.6896	0.95993	0.0:1.0:0.0:0.0	.	481;506;550;506;550	Q96PY6-4;G5E9Z3;Q96PY6-3;Q96PY6-2;Q96PY6	.;.;.;.;NEK1_HUMAN	Q	550;506;506;550;481	ENSP00000408020:R550Q;ENSP00000423332:R506Q;ENSP00000427653:R506Q;ENSP00000424757:R550Q;ENSP00000424938:R481Q	ENSP00000408020:R550Q	R	-	2	0	NEK1	170695551	1.000000	0.71417	1.000000	0.80357	0.803000	0.45373	6.040000	0.70980	2.752000	0.94435	0.585000	0.79938	CGA		0.383	NEK1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000363157.3			11	503	0	0	0	0.361761	0	11	503					T	170458976	C	T	170458976	3	4	31	1	0	0	0	0	1	0	0	0	10321	884	31	2	2195	2	NEK1	4	170458976	Missense_Mutation	SNP	C	TCGA-CH-5765-01A-11D-1576-08	48395044	170458976	20695300	15	1536											
PDE8B	8622	broad.mit.edu	37	chr5	76709105	76709105	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccgacgtcctgcacgccaccGctttctttcttggaaaggaa	8	10	9	14	4	2	0	0	0	2	0	3	3	3	2	4	2	1	2	4	2	2	3			TCGA-CH-5765-01A-11D-1576-08	TCGA-CH-5765-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23762450-360d-4930-b53b-611e0041327a	8994a220-e271-46ea-b68f-28388545c317	g.chr5:76709105G>A	ENST00000264917.5	+	17	1927	c.1882G>A	c.(1882-1884)Gct>Act	p.A628T	PDE8B_ENST00000333194.4_Missense_Mutation_p.A573T|PDE8B_ENST00000340978.3_Missense_Mutation_p.A581T|PDE8B_ENST00000342343.4_Missense_Mutation_p.A608T|PDE8B_ENST00000346042.3_Missense_Mutation_p.A531T|PDE8B_ENST00000505283.1_Missense_Mutation_p.A93T	NM_003719.3	NP_003710.1	O95263	PDE8B_HUMAN	phosphodiesterase 8B	628	Catalytic. {ECO:0000250}.				cAMP catabolic process (GO:0006198)|cyclic nucleotide metabolic process (GO:0009187)|negative regulation of insulin secretion (GO:0046676)|negative regulation of steroid hormone biosynthetic process (GO:0090032)|phosphorelay signal transduction system (GO:0000160)	cytosol (GO:0005829)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)	p.A628T(1)	GMDS/PDE8B(2)	NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(10)|lung(15)|ovary(1)|prostate(2)|skin(3)	40		all_lung(232;0.00043)|Lung NSC(167;0.00114)|Ovarian(174;0.0107)|Prostate(461;0.0605)		OV - Ovarian serous cystadenocarcinoma(54;2.21e-49)|Epithelial(54;5.82e-43)|all cancers(79;4.06e-38)	Caffeine(DB00201)|Ketotifen(DB00920)	GCACGCCACCGCTTTCTTTCT	0.473																																						ENST00000264917.5																		GMDS/PDE8B(2)	1	Substitution - Missense(1)	p.A628T(1)	prostate(1)	NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(10)|lung(15)|ovary(1)|prostate(2)|skin(3)	40						c.(1882-1884)Gct>Act		phosphodiesterase 8B							128	116	120					5																	76709105		2203	4300	6503	SO:0001583	missense	8622				cyclic nucleotide metabolic process|regulation of transcription, DNA-dependent	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|two-component response regulator activity	g.chr5:76709105G>A	AF079529	CCDS4037.1, CCDS34190.1, CCDS34191.1, CCDS34192.1, CCDS34193.1	5q14.1	2008-05-15			ENSG00000113231	ENSG00000113231	3.1.4.17	"Phosphodiesterases"	8794	protein-coding gene	gene with protein product		603390				9784418	Standard	NM_003719		Approved		uc003kfa.3	O95263	OTTHUMG00000102170	ENST00000264917.5:c.1882G>A	5.37:g.76709105G>A	ENSP00000264917:p.Ala628Thr					PDE8B_ENST00000333194.4_Missense_Mutation_p.A573T|PDE8B_ENST00000505283.1_Missense_Mutation_p.A93T|PDE8B_ENST00000340978.3_Missense_Mutation_p.A581T|PDE8B_ENST00000346042.3_Missense_Mutation_p.A531T|PDE8B_ENST00000342343.4_Missense_Mutation_p.A608T	p.A628T	NM_003719.3	NP_003710.1	O95263	PDE8B_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;2.21e-49)|Epithelial(54;5.82e-43)|all cancers(79;4.06e-38)	17	1927	+		all_lung(232;0.00043)|Lung NSC(167;0.00114)|Ovarian(174;0.0107)|Prostate(461;0.0605)	628			Catalytic (By similarity).		Q5J7V7|Q86XK8|Q8IUJ7|Q8IUJ8|Q8IUJ9|Q8IUK0|Q8N3T2	Missense_Mutation	SNP	ENST00000264917.5	37	c.1882G>A	CCDS4037.1	.	.	.	.	.	.	.	.	.	.	G	30	5.053528	0.93793	.	.	ENSG00000113231	ENST00000340978;ENST00000346042;ENST00000264917;ENST00000342343;ENST00000333194;ENST00000505283	T;T;T;T;T;T	0.81078	-1.45;-1.45;-1.45;-1.45;-1.45;-1.45	5.59	5.59	0.84812	Metal-dependent phosphohydrolase, HD domain (1);5&apos (2);-cyclic nucleotide phosphodiesterase, catalytic domain (2);3&apos (2);	0.000000	0.85682	D	0.000000	D	0.90287	0.6962	M	0.79123	2.44	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.87578	0.992;0.997;0.994;0.997;0.998	D	0.90697	0.4617	10	0.66056	D	0.02	.	19.5754	0.95441	0.0:0.0:1.0:0.0	.	531;581;573;608;628	O95263-2;O95263-6;O95263-3;O95263-4;O95263	.;.;.;.;PDE8B_HUMAN	T	581;531;628;608;573;93	ENSP00000345446:A581T;ENSP00000330428:A531T;ENSP00000264917:A628T;ENSP00000345646:A608T;ENSP00000331336:A573T;ENSP00000423461:A93T	ENSP00000264917:A628T	A	+	1	0	PDE8B	76744861	1.000000	0.71417	0.910000	0.35882	0.718000	0.41266	9.804000	0.99143	2.620000	0.88729	0.561000	0.74099	GCT		0.473	PDE8B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000220015.3	NM_003719		34	157	0	0	0	0.804634	0	34	157					A	76709105	G	A	76709105	3	1	31	1	0	0	0	0	1	0	0	0	11654	1087	38	1	1948	1	PDE8B	5	76709105	Missense_Mutation	SNP	G	TCGA-CH-5765-01A-11D-1576-08		76709105	104206155	16	1537											
PCDHA3	56145	broad.mit.edu	37	chr5	140180975	140180975	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agctggtgccgcgcctgttcCgggtggcgtccaaaagacac	7	7	14	13	4	0	1	0	0	0	1	2	1	2	1	4	3	2	2	4	3	2	1			TCGA-CH-5765-01A-11D-1576-08	TCGA-CH-5765-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23762450-360d-4930-b53b-611e0041327a	8994a220-e271-46ea-b68f-28388545c317	g.chr5:140180975C>T	ENST00000522353.2	+	1	193	c.193C>T	c.(193-195)Cgg>Tgg	p.R65W	PCDHA3_ENST00000532566.2_Missense_Mutation_p.R65W|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000520672.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron	NM_018906.2	NP_061729.1	Q9Y5H8	PCDA3_HUMAN	protocadherin alpha 3	65	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCGCCTGTTCCGGGTGGCGTC	0.617																																						ENST00000522353.2																			0				NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1)	95						c.(193-195)Cgg>Tgg									57	70	66					5																	140180975		2203	4294	6497	SO:0001583	missense	0							g.chr5:140180975C>T	AF152481	CCDS54915.1	5q31	2010-11-26				ENSG00000255408		"Cadherins / Protocadherins : Clustered"	8669	other	complex locus constituent	"KIAA0345-like 11"	606309				10380929	Standard	NM_018906		Approved	PCDH-ALPHA3		Q9Y5H8		ENST00000522353.2:c.193C>T	5.37:g.140180975C>T	ENSP00000429808:p.Arg65Trp					PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000520672.2_Intron|PCDHA3_ENST00000532566.2_Missense_Mutation_p.R65W	p.R65W	NM_018906.2	NP_061729.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	193	+								O75286	Missense_Mutation	SNP	ENST00000522353.2	37	c.193C>T	CCDS54915.1	.	.	.	.	.	.	.	.	.	.	c	20.4	3.980912	0.74474	.	.	ENSG00000255408	ENST00000522353;ENST00000532566	T;T	0.38887	1.11;1.11	4.48	3.58	0.41010	Cadherin, N-terminal (1);Cadherin (3);Cadherin-like (1);	0.000000	0.37955	U	0.001876	T	0.78130	0.4235	H	0.99117	4.435	0.40488	D	0.980514	D;D	0.89917	1.0;1.0	D;D	0.80764	0.994;0.993	D	0.87025	0.2131	10	0.87932	D	0	.	13.635	0.62217	0.1614:0.8386:0.0:0.0	.	65;65	Q9Y5H8-2;Q9Y5H8	.;PCDA3_HUMAN	W	65	ENSP00000429808:R65W;ENSP00000434086:R65W	ENSP00000429808:R65W	R	+	1	2	PCDHA3	140161159	0.994000	0.37717	1.000000	0.80357	0.978000	0.69477	3.208000	0.51114	0.963000	0.38082	0.586000	0.80456	CGG		0.617	PCDHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372848.2	NM_018906		5	231	0	0	0	0.184627	0	5	231					T	140180975	C	T	140180975	3	4	31	1	0	0	0	0	1	0	0	0	11525	643	23	2	195	2	PCDHA3	5	140180975	Missense_Mutation	SNP	C	TCGA-CH-5765-01A-11D-1576-08	63471870	140180975	40734285	17	1538											
PCDHB5	26167	broad.mit.edu	37	chr5	140515710	140515710	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaccacaattcgcattgtcGtcttggataataatgacaac	13	11	6	11	2	1	1	0	1	1	0	3	2	1	2	2	1	1	1	2	1	4	5			TCGA-CH-5765-01A-11D-1576-08	TCGA-CH-5765-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23762450-360d-4930-b53b-611e0041327a	8994a220-e271-46ea-b68f-28388545c317	g.chr5:140515710G>A	ENST00000231134.5	+	1	911	c.694G>A	c.(694-696)Gtc>Atc	p.V232I		NM_015669.2	NP_056484.1	Q9Y5E4	PCDB5_HUMAN	protocadherin beta 5	232	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.V232I(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	81			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TCGCATTGTCGTCTTGGATAA	0.552																																						ENST00000231134.5																			1	Substitution - Missense(1)	p.V232I(1)	prostate(1)	breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	81						c.(694-696)Gtc>Atc									129	143	138					5																	140515710		2203	4300	6503	SO:0001583	missense	0				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding|protein binding	g.chr5:140515710G>A	AF152498	CCDS4247.1	5q31	2010-01-26			ENSG00000113209	ENSG00000113209		"Cadherins / Protocadherins : Clustered"	8690	other	protocadherin		606331				10380929	Standard	NM_015669		Approved	DKFZp586B0217, PCDH-BETA5	uc003liq.3	Q9Y5E4	OTTHUMG00000129616	ENST00000231134.5:c.694G>A	5.37:g.140515710G>A	ENSP00000231134:p.Val232Ile						p.V232I	NM_015669.2	NP_056484.1	Q9Y5E4	PCDB5_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	911	+			232			Cadherin 2.		Q549F4|Q9UFU9	Missense_Mutation	SNP	ENST00000231134.5	37	c.694G>A	CCDS4247.1	.	.	.	.	.	.	.	.	.	.	G	11.82	1.751781	0.31046	.	.	ENSG00000113209	ENST00000231134;ENST00000537936	T	0.61510	0.1	5.37	3.55	0.40652	Cadherin (4);Cadherin conserved site (1);Cadherin-like (1);	.	.	.	.	T	0.49490	0.1560	L	0.46741	1.465	0.09310	N	1	B	0.32324	0.364	B	0.33254	0.16	T	0.42666	-0.9438	9	0.44086	T	0.13	.	8.9877	0.36003	0.328:0.0:0.672:0.0	.	232	Q9Y5E4	PCDB5_HUMAN	I	232;16	ENSP00000231134:V232I	ENSP00000231134:V232I	V	+	1	0	PCDHB5	140495894	0.998000	0.40836	0.994000	0.49952	0.867000	0.49689	2.645000	0.46621	1.411000	0.46957	0.555000	0.69702	GTC		0.552	PCDHB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251811.1	NM_015669		33	433	0	0	0	0.740014	0	33	433					A	140515710	G	A	140515710	3	1	31	1	0	0	0	0	1	0	0	0	11545	1145	40	1	696	1	PCDHB5	5	140515710	Missense_Mutation	SNP	G	TCGA-CH-5765-01A-11D-1576-08	334735	140515710	40399550	18	1539											
NRCAM	4897	broad.mit.edu	37	chr7	107834822	107834822	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttccaaagttccattttcaTgtaaaacataaatatcttca	15	16	2	8	0	3	0	2	0	1	0	5	0	5	0	2	0	1	2	2	0	6	8			TCGA-CH-5765-01A-11D-1576-08	TCGA-CH-5765-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23762450-360d-4930-b53b-611e0041327a	8994a220-e271-46ea-b68f-28388545c317	g.chr7:107834822T>A	ENST00000425651.2	-	13	1513	c.1514A>T	c.(1513-1515)cAt>cTt	p.H505L	NRCAM_ENST00000379028.3_Missense_Mutation_p.H505L|NRCAM_ENST00000379024.4_Missense_Mutation_p.H486L|NRCAM_ENST00000351718.4_Missense_Mutation_p.H499L|NRCAM_ENST00000379022.4_Missense_Mutation_p.H505L|NRCAM_ENST00000413765.2_Missense_Mutation_p.H486L	NM_001037132.2	NP_001032209.1	Q92823	NRCAM_HUMAN	neuronal cell adhesion molecule	505	Ig-like 5.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|axonogenesis (GO:0007409)|central nervous system development (GO:0007417)|clustering of voltage-gated sodium channels (GO:0045162)|heterotypic cell-cell adhesion (GO:0034113)|neuron migration (GO:0001764)|neuronal action potential propagation (GO:0019227)|positive regulation of neuron differentiation (GO:0045666)|protein localization (GO:0008104)|regulation of axon extension (GO:0030516)|retinal ganglion cell axon guidance (GO:0031290)|single organismal cell-cell adhesion (GO:0016337)|synapse assembly (GO:0007416)	axon initial segment (GO:0043194)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)	ankyrin binding (GO:0030506)	p.H499L(1)		breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(1)|lung(36)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	65						TCCATTTTCATGTAAAACATA	0.333																																						ENST00000379028.3																			1	Substitution - Missense(1)	p.H499L(1)	prostate(1)	breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(1)|lung(36)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	65						c.(1513-1515)cAt>cTt		neuronal cell adhesion molecule							81	76	78					7																	107834822		2203	4300	6503	SO:0001583	missense	4897				angiogenesis|axon guidance|axonal fasciculation|cell-cell adhesion|central nervous system development|clustering of voltage-gated sodium channels|neuron migration|positive regulation of neuron differentiation|regulation of axon extension|synapse assembly	external side of plasma membrane|integral to plasma membrane	ankyrin binding	g.chr7:107834822T>A		CCDS5751.1, CCDS47686.1, CCDS55153.1, CCDS75652.1	7q31	2013-02-11			ENSG00000091129	ENSG00000091129		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	7994	protein-coding gene	gene with protein product	"NgCAM-related cell adhesion molecule"	601581				8812479	Standard	NM_001037132		Approved	KIAA0343, Bravo	uc022aka.1	Q92823	OTTHUMG00000154973	ENST00000425651.2:c.1514A>T	7.37:g.107834822T>A	ENSP00000401244:p.His505Leu					NRCAM_ENST00000379022.4_Missense_Mutation_p.H505L|NRCAM_ENST00000425651.2_Missense_Mutation_p.H505L|NRCAM_ENST00000379024.4_Missense_Mutation_p.H486L|NRCAM_ENST00000351718.4_Missense_Mutation_p.H499L|NRCAM_ENST00000413765.2_Missense_Mutation_p.H486L	p.H505L			Q92823	NRCAM_HUMAN			16	1984	-			505			Ig-like 5.		A4D0S3|E9PDA4|O15051|O15179|Q14BM2|Q9UHI3|Q9UHI4	Missense_Mutation	SNP	ENST00000425651.2	37	c.1514A>T	CCDS47686.1	.	.	.	.	.	.	.	.	.	.	T	24.7	4.559148	0.86335	.	.	ENSG00000091129	ENST00000379032;ENST00000379028;ENST00000413765;ENST00000537765;ENST00000351718;ENST00000379024;ENST00000425651;ENST00000379022;ENST00000445979	T;T;T;T;T;T	0.66460	-0.21;-0.21;-0.21;-0.21;-0.21;-0.21	5.83	5.83	0.93111	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.64983	0.2648	N	0.11341	0.13	0.80722	D	1	P;D;P;P;B	0.89917	0.849;1.0;0.908;0.659;0.197	B;D;P;B;B	0.91635	0.395;0.999;0.737;0.398;0.157	T	0.61594	-0.7031	10	0.09338	T	0.73	.	16.2147	0.82198	0.0:0.0:0.0:1.0	.	505;486;486;499;505	Q92823-5;Q92823-3;E9PDA4;Q92823-4;Q92823	.;.;.;.;NRCAM_HUMAN	L	505;505;486;505;499;486;505;505;499	ENSP00000368314:H505L;ENSP00000407858:H486L;ENSP00000325269:H499L;ENSP00000368310:H486L;ENSP00000401244:H505L;ENSP00000368308:H505L	ENSP00000325269:H499L	H	-	2	0	NRCAM	107622058	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.499000	0.81566	2.231000	0.72958	0.460000	0.39030	CAT		0.333	NRCAM-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337942.2	NM_001037132		62	116	0	0	0	0.870114	0	62	116					A	107834822	T	A	107834822	3	1	31	1	0	0	0	0	1	0	0	0	10644	1464	51	5	2502	5	NRCAM	7	107834822	Missense_Mutation	SNP	T	TCGA-CH-5765-01A-11D-1576-08		107834822	51303841	19	1540											
PRKDC	5591	broad.mit.edu	37	chr8	48771531	48771531	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagcacatcatcatgcaccGtggggtcccgctgctcctgc	6	8	10	17	2	2	0	2	0	0	0	4	0	4	0	4	2	4	4	4	2	0	0			TCGA-CH-5765-01A-11D-1576-08	TCGA-CH-5765-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23762450-360d-4930-b53b-611e0041327a	8994a220-e271-46ea-b68f-28388545c317	g.chr8:48771531G>A	ENST00000314191.2	-	48	6277	c.6221C>T	c.(6220-6222)aCg>aTg	p.T2074M	PRKDC_ENST00000338368.3_Missense_Mutation_p.T2074M|PRKDC_ENST00000523565.1_5'UTR	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	2075					B cell lineage commitment (GO:0002326)|brain development (GO:0007420)|cellular protein modification process (GO:0006464)|cellular response to insulin stimulus (GO:0032869)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|ectopic germ cell programmed cell death (GO:0035234)|heart development (GO:0007507)|immunoglobulin V(D)J recombination (GO:0033152)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of protein phosphorylation (GO:0001933)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|pro-B cell differentiation (GO:0002328)|protein destabilization (GO:0031648)|regulation of circadian rhythm (GO:0042752)|response to gamma radiation (GO:0010332)|rhythmic process (GO:0048511)|signal transduction involved in mitotic G1 DNA damage checkpoint (GO:0072431)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell receptor V(D)J recombination (GO:0033153)|telomere maintenance (GO:0000723)	cytosol (GO:0005829)|DNA-dependent protein kinase-DNA ligase 4 complex (GO:0005958)|membrane (GO:0016020)|nonhomologous end joining complex (GO:0070419)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transcription factor binding (GO:0008134)	p.T2075M(1)|p.T2074M(1)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)			Caffeine(DB00201)	ATCATGCACCGTGGGGTCCCG	0.602								Non-homologous end-joining																													Esophageal Squamous(79;1091 1253 12329 31680 40677)	ENST00000314191.2																			2	Substitution - Missense(2)	p.T2075M(1)|p.T2074M(1)	prostate(2)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147						c.(6220-6222)aCg>aTg	Non-homologous end-joining	protein kinase, DNA-activated, catalytic polypeptide							101	107	105					8																	48771531		2182	4288	6470	SO:0001583	missense	5591				cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding	g.chr8:48771531G>A		CCDS75734.1, CCDS75735.1	8q11	2014-09-17				ENSG00000253729	2.7.11.1		9413	protein-coding gene	gene with protein product		600899		HYRC, HYRC1		7638222	Standard	NM_001081640		Approved	DNPK1, p350, DNAPK, XRCC7, DNA-PKcs	uc003xqi.3	P78527		ENST00000314191.2:c.6221C>T	8.37:g.48771531G>A	ENSP00000313420:p.Thr2074Met					PRKDC_ENST00000338368.3_Missense_Mutation_p.T2074M|PRKDC_ENST00000523565.1_5'UTR	p.T2074M	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN			48	6277	-		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)	2075					P78528|Q13327|Q13337|Q14175|Q59H99|Q7Z611|Q96SE6|Q9UME3	Missense_Mutation	SNP	ENST00000314191.2	37	c.6221C>T		.	.	.	.	.	.	.	.	.	.	G	10.94	1.494300	0.26774	.	.	ENSG00000253729	ENST00000314191;ENST00000338368	T;T	0.02890	4.18;4.12	5.61	-6.56	0.01848	NUC194 (1);Armadillo-type fold (1);	1.988910	0.01777	N	0.031532	T	0.00998	0.0033	N	0.00538	-1.39	0.09310	N	1	B;B	0.15930	0.015;0.0	B;B	0.14023	0.01;0.004	T	0.50268	-0.8848	10	0.45353	T	0.12	.	5.8189	0.18516	0.3638:0.0:0.2186:0.4176	.	2074;2075	E7EUY0;P78527	.;PRKDC_HUMAN	M	2074	ENSP00000313420:T2074M;ENSP00000345182:T2074M	ENSP00000313420:T2074M	T	-	2	0	PRKDC	48934084	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.164000	0.09983	-1.025000	0.03334	-0.367000	0.07326	ACG		0.602	PRKDC-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001081640		7	265	0	0	0	0.27861	0	7	265					A	48771531	G	A	48771531	3	1	31	1	0	0	0	0	1	0	0	0	12521	1145	40	1	6322	1	PRKDC	8	48771531	Missense_Mutation	SNP	G	TCGA-CH-5765-01A-11D-1576-08		48771531	97592491	20	1541											
ADCY8	114	broad.mit.edu	37	chr8	131792813	131792813	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acaagtcccaggacaaccgcGgccagggagtactgcccagg	11	3	13	14	2	0	0	0	0	0	0	1	2	1	2	4	4	3	1	4	4	3	1	rs146198447		TCGA-CH-5765-01A-11D-1576-08	TCGA-CH-5765-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23762450-360d-4930-b53b-611e0041327a	8994a220-e271-46ea-b68f-28388545c317	g.chr8:131792813G>A	ENST00000286355.5	-	18	5671	c.3579C>T	c.(3577-3579)gcC>gcT	p.A1193A	ADCY8_ENST00000377928.3_Silent_p.A1062A	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	1193					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|learning or memory (GO:0007611)|long-term memory (GO:0007616)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)	p.A1193A(1)		NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			GGACAACCGCGGCCAGGGAGT	0.498										HNSCC(32;0.087)			G|||	1	0.000199681	0	0	5008	,	,		13921	0		0.001	False		,,,				2504	0					ENST00000286355.5																			1	Substitution - coding silent(1)	p.A1193A(1)	prostate(1)	NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						c.(3577-3579)gcC>gcT		adenylate cyclase 8 (brain)		G		0,4406		0,0,2203	146	146	146		3579	-8.8	0.8	8	dbSNP_134	146	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	ADCY8	NM_001115.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		1193/1252	131792813	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	114				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding	g.chr8:131792813G>A	Z35309	CCDS6363.1	8q24	2013-02-04			ENSG00000155897	ENSG00000155897	4.6.1.1	"Adenylate cyclases"	239	protein-coding gene	gene with protein product		103070		ADCY3		8076676	Standard	NM_001115		Approved	HBAC1, AC8	uc003ytd.4	P40145	OTTHUMG00000164756	ENST00000286355.5:c.3579C>T	8.37:g.131792813G>A		HNSCC(32;0.087)				ADCY8_ENST00000377928.3_Silent_p.A1062A	p.A1193A	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000538)		18	5671	-	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		1193						Silent	SNP	ENST00000286355.5	37	c.3579C>T	CCDS6363.1																																																																																				0.498	ADCY8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380080.1			62	99	0	0	0	0.870114	0	62	99					A	131792813	G	A	131792813	2	1	31	1	0	0	0	0	0	0	0	1	300	1103	39	2		2	ADCY8	8	131792813	Silent	SNP	G	TCGA-CH-5765-01A-11D-1576-08	83021282	131792813	14571209	21	1542											
SYK	6850	broad.mit.edu	37	chr9	93637062	93637062	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctggaccgaaagctgctgaCgctggaagacaaagaactgg	13	5	13	10	2	0	3	0	1	0	2	0	6	0	5	2	3	3	3	2	3	4	0	rs369986984		TCGA-CH-5765-01A-11D-1576-08	TCGA-CH-5765-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23762450-360d-4930-b53b-611e0041327a	8994a220-e271-46ea-b68f-28388545c317	g.chr9:93637062C>T	ENST00000375754.4	+	9	1260	c.1112C>T	c.(1111-1113)aCg>aTg	p.T371M	SYK_ENST00000375746.1_Missense_Mutation_p.T371M|SYK_ENST00000375747.1_Missense_Mutation_p.T348M|SYK_ENST00000375751.4_Missense_Mutation_p.T348M	NM_003177.5	NP_003168.2	P43405	KSYK_HUMAN	spleen tyrosine kinase	371	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of JUN kinase activity (GO:0007257)|adaptive immune response (GO:0002250)|angiogenesis (GO:0001525)|B cell receptor signaling pathway (GO:0050853)|beta selection (GO:0043366)|blood coagulation (GO:0007596)|blood vessel morphogenesis (GO:0048514)|cell proliferation (GO:0008283)|cellular response to molecule of fungal origin (GO:0071226)|defense response to bacterium (GO:0042742)|enzyme linked receptor protein signaling pathway (GO:0007167)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|leukocyte activation involved in immune response (GO:0002366)|leukocyte cell-cell adhesion (GO:0007159)|leukotriene biosynthetic process (GO:0019370)|lymph vessel development (GO:0001945)|macrophage activation involved in immune response (GO:0002281)|neutrophil activation involved in immune response (GO:0002283)|neutrophil chemotaxis (GO:0030593)|organ morphogenesis (GO:0009887)|platelet activation (GO:0030168)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of alpha-beta T cell proliferation (GO:0046641)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of bone resorption (GO:0045780)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of gamma-delta T cell differentiation (GO:0045588)|positive regulation of granulocyte macrophage colony-stimulating factor biosynthetic process (GO:0045425)|positive regulation of interleukin-3 biosynthetic process (GO:0045401)|positive regulation of mast cell degranulation (GO:0043306)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of arachidonic acid secretion (GO:0090237)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of neutrophil degranulation (GO:0043313)|regulation of phagocytosis (GO:0050764)|regulation of platelet activation (GO:0010543)|regulation of platelet aggregation (GO:0090330)|regulation of superoxide anion generation (GO:0032928)|serotonin secretion by platelet (GO:0002554)|viral process (GO:0016032)	B cell receptor complex (GO:0019815)|cytosol (GO:0005829)|early phagosome (GO:0032009)|plasma membrane (GO:0005886)|T cell receptor complex (GO:0042101)	ATP binding (GO:0005524)|integrin binding (GO:0005178)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)	p.T348M(1)		breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(3)|skin(2)|stomach(2)	26						AAGCTGCTGACGCTGGAAGAC	0.522			T	"ETV6, ITK"	"MDS, peripheral T-cell lymphoma"																																	ENST00000375754.4				Dom	yes		9	9q22	6850	T	spleen tyrosine kinase			L	"ETV6, ITK"		"MDS, peripheral T-cell lymphoma"		1	Substitution - Missense(1)	p.T348M(1)	prostate(1)	breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(3)|skin(2)|stomach(2)	26						c.(1111-1113)aCg>aTg		spleen tyrosine kinase		C	MET/THR,MET/THR,MET/THR,MET/THR	0,4406		0,0,2203	140	151	147		1043,1112,1043,1112	4.3	1	9		147	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense	SYK	NM_001135052.2,NM_001174167.1,NM_001174168.1,NM_003177.5	81,81,81,81	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign,benign,benign,benign	348/613,371/636,348/613,371/636	93637062	1,13005	2203	4300	6503	SO:0001583	missense	6850				cell proliferation|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte cell-cell adhesion|neutrophil chemotaxis|organ morphogenesis|platelet activation|protein complex assembly	cytosol|T cell receptor complex	ATP binding|integrin binding|non-membrane spanning protein tyrosine kinase activity	g.chr9:93637062C>T	L28824	CCDS6688.1, CCDS47992.1	9q22	2013-02-14			ENSG00000165025	ENSG00000165025		"SH2 domain containing"	11491	protein-coding gene	gene with protein product		600085				8082894, 1423621	Standard	XM_005252147		Approved		uc004aqz.3	P43405	OTTHUMG00000020200	ENST00000375754.4:c.1112C>T	9.37:g.93637062C>T	ENSP00000364907:p.Thr371Met					SYK_ENST00000375747.1_Missense_Mutation_p.T348M|SYK_ENST00000375751.4_Missense_Mutation_p.T348M|SYK_ENST00000375746.1_Missense_Mutation_p.T371M	p.T371M	NM_003177.5	NP_003168.2	P43405	KSYK_HUMAN			9	1260	+			371			Protein kinase.			Missense_Mutation	SNP	ENST00000375754.4	37	c.1112C>T	CCDS6688.1	.	.	.	.	.	.	.	.	.	.	C	16.33	3.093564	0.56075	0.0	1.16E-4	ENSG00000165025	ENST00000375754;ENST00000375751;ENST00000375747;ENST00000375746	T;T;T;T	0.74106	-0.81;-0.79;-0.79;-0.81	4.29	4.29	0.51040	Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.186068	0.45867	D	0.000331	T	0.72630	0.3484	L	0.29908	0.895	0.53005	D	0.999969	D;D	0.55605	0.966;0.972	P;P	0.57371	0.723;0.819	T	0.68992	-0.5263	10	0.27785	T	0.31	.	11.8482	0.52397	0.0:0.9148:0.0:0.0851	.	348;371	P43405-2;P43405	.;KSYK_HUMAN	M	371;348;348;371	ENSP00000364907:T371M;ENSP00000364904:T348M;ENSP00000364899:T348M;ENSP00000364898:T371M	ENSP00000364898:T371M	T	+	2	0	SYK	92676883	0.012000	0.17670	0.998000	0.56505	0.911000	0.54048	1.075000	0.30716	2.387000	0.81309	0.655000	0.94253	ACG		0.522	SYK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053018.1			13	315	0	0	0	0.479597	0	13	315					T	93637062	C	T	93637062	3	4	31	1	0	0	0	0	1	0	0	0	15435	536	19	1	1142	1	SYK	9	93637062	Missense_Mutation	SNP	C	TCGA-CH-5765-01A-11D-1576-08		93637062	47576369	22	1543											
DDX50	79009	broad.mit.edu	37	chr10	70673941	70673941	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgttggaaaaatgactcaaaAggctgcaactactgtggaag	15	9	11	6	0	1	1	1	1	0	0	1	3	1	3	0	3	3	3	0	3	7	2			TCGA-CH-5765-01A-11D-1576-08	TCGA-CH-5765-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23762450-360d-4930-b53b-611e0041327a	8994a220-e271-46ea-b68f-28388545c317	g.chr10:70673941A>G	ENST00000373585.3	+	7	1177	c.1070A>G	c.(1069-1071)aAg>aGg	p.K357R	RNU6-571P_ENST00000384128.1_RNA	NM_024045.1	NP_076950.1	Q9BQ39	DDX50_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 50	357						membrane (GO:0016020)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)			breast(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	29						ATGACTCAAAAGGCTGCAACT	0.338																																						ENST00000373585.3																			0				breast(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	29						c.(1069-1071)aAg>aGg		DEAD (Asp-Glu-Ala-Asp) box polypeptide 50							63	60	61					10																	70673941		2203	4300	6503	SO:0001583	missense	79009					nucleolus	ATP binding|ATP-dependent helicase activity|RNA binding	g.chr10:70673941A>G	AF334103	CCDS7283.1	10q22.2	2010-09-30			ENSG00000107625	ENSG00000107625		"DEAD-boxes"	17906	protein-coding gene	gene with protein product		610373				11891046	Standard	NM_024045		Approved	GU2, MGC3199, GUB, RH-II/GuB	uc001jou.3	Q9BQ39	OTTHUMG00000018362	ENST00000373585.3:c.1070A>G	10.37:g.70673941A>G	ENSP00000362687:p.Lys357Arg						p.K357R	NM_024045.1	NP_076950.1	Q9BQ39	DDX50_HUMAN			7	1177	+			357					Q5VX37|Q8WV76|Q9BWI8	Missense_Mutation	SNP	ENST00000373585.3	37	c.1070A>G	CCDS7283.1	.	.	.	.	.	.	.	.	.	.	A	14.42	2.530250	0.45073	.	.	ENSG00000107625	ENST00000373585;ENST00000541832	T	0.20738	2.05	5.49	5.49	0.81192	DEAD-like helicase (1);	0.041067	0.85682	D	0.000000	T	0.16896	0.0406	N	0.17594	0.5	0.49483	D	0.999798	P;P	0.41475	0.468;0.751	B;B	0.42522	0.147;0.39	T	0.06338	-1.0832	10	0.27082	T	0.32	-9.7833	15.8838	0.79226	1.0:0.0:0.0:0.0	.	357;357	Q9BQ39;B4DED6	DDX50_HUMAN;.	R	357	ENSP00000362687:K357R	ENSP00000362687:K357R	K	+	2	0	DDX50	70343947	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.980000	0.70516	2.216000	0.71823	0.379000	0.24179	AAG		0.338	DDX50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048363.1	NM_024045		3	137	0	0	0	0.115264	0	3	137					G	70673941	A	G	70673941	3	3	31	1	0	0	0	0	1	0	0	0	4368	72	3	4	1096	4	DDX50	10	70673941	Missense_Mutation	SNP	A	TCGA-CH-5765-01A-11D-1576-08		70673941	64860806	23	1544											
SORBS1	10580	broad.mit.edu	37	chr10	97192297	97192297	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acgaggcccggagagtcaccGctcccttcccagtgcagatt	8	7	11	15	3	1	2	1	0	0	2	3	4	3	2	4	2	1	2	4	2	0	2	rs367690122		TCGA-CH-5765-01A-11D-1576-08	TCGA-CH-5765-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23762450-360d-4930-b53b-611e0041327a	8994a220-e271-46ea-b68f-28388545c317	g.chr10:97192297G>A	ENST00000361941.3	-	4	235	c.209C>T	c.(208-210)gCg>gTg	p.A70V	SORBS1_ENST00000277982.5_Missense_Mutation_p.A70V|SORBS1_ENST00000371239.1_Missense_Mutation_p.A38V|SORBS1_ENST00000371247.2_Missense_Mutation_p.A70V|SORBS1_ENST00000371249.2_Missense_Mutation_p.A38V|SORBS1_ENST00000371227.4_Missense_Mutation_p.A70V|SORBS1_ENST00000347291.4_Missense_Mutation_p.A70V|SORBS1_ENST00000371245.3_Missense_Mutation_p.A70V|SORBS1_ENST00000353505.5_Missense_Mutation_p.A70V|SORBS1_ENST00000354106.3_Missense_Mutation_p.A70V|SORBS1_ENST00000306402.6_Missense_Mutation_p.A70V|SORBS1_ENST00000393949.1_Missense_Mutation_p.A70V|SORBS1_ENST00000371241.1_Missense_Mutation_p.A38V|SORBS1_ENST00000474353.2_5'UTR|SORBS1_ENST00000371246.2_Missense_Mutation_p.A70V|SORBS1_ENST00000607232.1_Missense_Mutation_p.A38V	NM_001034954.1	NP_001030126			sorbin and SH3 domain containing 1									p.A70V(2)		NS(1)|breast(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(19)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	42		Colorectal(252;0.0429)		Epithelial(162;1.7e-06)|all cancers(201;6.52e-05)		GAGAGTCACCGCTCCCTTCCC	0.517																																						ENST00000371247.2																			2	Substitution - Missense(2)	p.A70V(2)	prostate(2)	NS(1)|breast(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(19)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	42						c.(208-210)gCg>gTg		sorbin and SH3 domain containing 1		G	VAL/ALA,VAL/ALA,VAL/ALA,VAL/ALA,VAL/ALA,VAL/ALA,VAL/ALA	0,4406		0,0,2203	84	88	87		209,209,209,113,113,113,209	4.7	0.9	10		87	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense,missense,missense,missense	SORBS1	NM_001034954.1,NM_001034955.1,NM_001034956.1,NM_001034957.1,NM_006434.2,NM_015385.2,NM_024991.1	64,64,64,64,64,64,64	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign,benign,benign,benign,benign,benign,benign	70/1293,70/1152,70/906,38/741,38/685,38/817,70/782	97192297	1,13005	2203	4300	6503	SO:0001583	missense	10580				focal adhesion assembly|glucose transport|insulin receptor signaling pathway|muscle contraction|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of lipid biosynthetic process|stress fiber assembly	centrosome|cytosol|focal adhesion|membrane raft|nucleus|stress fiber|zonula adherens	actin binding|insulin receptor binding|SH3/SH2 adaptor activity	g.chr10:97192297G>A	AF136381	CCDS7442.1, CCDS31252.1, CCDS31253.1, CCDS31254.1, CCDS31255.1, CCDS31256.1, CCDS73169.1	10q23.33	2011-07-25	2002-05-08		ENSG00000095637	ENSG00000095637			14565	protein-coding gene	gene with protein product	"c-Cbl-associated protein"	605264	"SH3-domain protein 5 (ponsin)"	SH3D5		10085297, 11001060	Standard	XM_005269405		Approved	FLJ12406, CAP, sh3p12, ponsin, KIAA1296	uc001kkp.3	Q9BX66	OTTHUMG00000018812	ENST00000361941.3:c.209C>T	10.37:g.97192297G>A	ENSP00000355136:p.Ala70Val					SORBS1_ENST00000607232.1_Missense_Mutation_p.A38V|SORBS1_ENST00000371246.2_Missense_Mutation_p.A70V|SORBS1_ENST00000353505.5_Missense_Mutation_p.A70V|SORBS1_ENST00000474353.2_5'UTR|SORBS1_ENST00000306402.6_Missense_Mutation_p.A70V|SORBS1_ENST00000393949.1_Missense_Mutation_p.A70V|SORBS1_ENST00000371241.1_Missense_Mutation_p.A38V|SORBS1_ENST00000371227.4_Missense_Mutation_p.A70V|SORBS1_ENST00000347291.4_Missense_Mutation_p.A70V|SORBS1_ENST00000361941.3_Missense_Mutation_p.A70V|SORBS1_ENST00000354106.3_Missense_Mutation_p.A70V|SORBS1_ENST00000371249.2_Missense_Mutation_p.A38V|SORBS1_ENST00000277982.5_Missense_Mutation_p.A70V|SORBS1_ENST00000371245.3_Missense_Mutation_p.A70V|SORBS1_ENST00000371239.1_Missense_Mutation_p.A38V	p.A70V			Q9BX66	SRBS1_HUMAN		Epithelial(162;1.7e-06)|all cancers(201;6.52e-05)	6	398	-		Colorectal(252;0.0429)	70						Missense_Mutation	SNP	ENST00000361941.3	37	c.209C>T	CCDS31255.1	.	.	.	.	.	.	.	.	.	.	G	11.89	1.774897	0.31411	0.0	1.16E-4	ENSG00000095637	ENST00000371245;ENST00000306402;ENST00000371249;ENST00000371247;ENST00000371227;ENST00000371246;ENST00000393949;ENST00000353505;ENST00000347291;ENST00000361941;ENST00000277982;ENST00000371241;ENST00000354106;ENST00000371239	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.10960	3.49;2.86;2.86;3.24;3.14;3.5;3.06;3.49;2.86;3.24;3.5;2.82;3.06;2.88	5.75	4.66	0.58398	.	0.209910	0.24054	N	0.041966	T	0.14313	0.0346	L	0.27053	0.805	0.09310	N	1	P;B;P;P;P;B;B;P;D;P;D;B	0.54772	0.858;0.342;0.762;0.901;0.833;0.026;0.275;0.633;0.968;0.841;0.967;0.12	B;B;B;B;B;B;B;B;P;B;P;B	0.53006	0.207;0.027;0.324;0.361;0.312;0.036;0.207;0.3;0.454;0.197;0.715;0.058	T	0.03887	-1.0995	10	0.72032	D	0.01	-5.8624	12.9297	0.58280	0.0881:0.0:0.9119:0.0	.	38;38;38;70;38;70;38;38;70;70;70;70	B7Z9B7;B4DTX5;F2Z2S3;Q9BX66-11;Q9BX66-10;Q9BX66-9;Q9BX66-4;Q9BX66-8;Q9BX66-3;Q9BX66;Q9BX66-2;Q9BX66-6	.;.;.;.;.;.;.;.;.;SRBS1_HUMAN;.;.	V	70;70;38;70;70;70;70;70;70;70;70;38;70;38	ENSP00000360291:A70V;ENSP00000302556:A70V;ENSP00000360295:A38V;ENSP00000360293:A70V;ENSP00000360271:A70V;ENSP00000360292:A70V;ENSP00000377521:A70V;ENSP00000343998:A70V;ENSP00000277985:A70V;ENSP00000355136:A70V;ENSP00000277982:A70V;ENSP00000360285:A38V;ENSP00000277984:A70V;ENSP00000360283:A38V	ENSP00000277982:A70V	A	-	2	0	SORBS1	97182287	1.000000	0.71417	0.946000	0.38457	0.852000	0.48524	4.491000	0.60326	2.706000	0.92434	0.655000	0.94253	GCG		0.517	SORBS1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049517.1			45	86	0	0	0	0.847076	0	45	86					A	97192297	G	A	97192297	3	1	31	1	0	0	0	0	1	0	0	0	14927	1087	38	1	3978	1	SORBS1	10	97192297	Missense_Mutation	SNP	G	TCGA-CH-5765-01A-11D-1576-08	26518356	97192297	38342450	24	1545											
OR52R1	119695	broad.mit.edu	37	chr11	4825344	4825344	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tgaatctcatgagcatgaaaCcagaatatggccaacatctt	15	10	7	9	0	2	4	1	3	2	1	3	4	2	4	2	1	3	1	2	1	5	2			TCGA-CH-5765-01A-11D-1576-08	TCGA-CH-5765-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23762450-360d-4930-b53b-611e0041327a	8994a220-e271-46ea-b68f-28388545c317	g.chr11:4825344C>A	ENST00000356069.2	-	1	266	c.267G>T	c.(265-267)tgG>tgT	p.W89C	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron|OR52R1_ENST00000380382.1_Missense_Mutation_p.W168C	NM_001005177.3	NP_001005177.3	Q8NGF1	O52R1_HUMAN	olfactory receptor, family 52, subfamily R, member 1	89						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.W168C(1)|p.W88C(1)		breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|prostate(1)|skin(3)	29		Medulloblastoma(188;0.0025)|Breast(177;0.0184)|all_neural(188;0.0227)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		GAGCATGAAACCAGAATATGG	0.527																																						ENST00000380382.1																			2	Substitution - Missense(2)	p.W168C(1)|p.W88C(1)	prostate(2)	breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|prostate(1)|skin(3)	29						c.(502-504)tgG>tgT		olfactory receptor, family 52, subfamily R, member 1							146	130	135					11																	4825344		2201	4298	6499	SO:0001583	missense	119695				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4825344C>A	BK004282	CCDS31360.1, CCDS31360.2	11p15.4	2012-08-09			ENSG00000176937	ENSG00000176937		"GPCR / Class A : Olfactory receptors"	15235	protein-coding gene	gene with protein product							Standard	NM_001005177		Approved		uc021qcs.1	Q8NGF1	OTTHUMG00000066510	ENST00000356069.2:c.267G>T	11.37:g.4825344C>A	ENSP00000348368:p.Trp89Cys					MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron|OR52R1_ENST00000356069.2_Missense_Mutation_p.W89C	p.W168C			Q8NGF1	O52R1_HUMAN		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)	1	503	-		Medulloblastoma(188;0.0025)|Breast(177;0.0184)|all_neural(188;0.0227)	89					Q6IFI0	Missense_Mutation	SNP	ENST00000356069.2	37	c.504G>T	CCDS31360.2	.	.	.	.	.	.	.	.	.	.	C	15.46	2.839804	0.51057	.	.	ENSG00000176937	ENST00000356069;ENST00000380382	T;T	0.00392	7.58;7.58	5.47	5.47	0.80525	GPCR, rhodopsin-like superfamily (1);	0.000000	0.46758	D	0.000271	T	0.01222	0.0040	M	0.83692	2.655	0.53688	D	0.999975	D	0.89917	1.0	D	0.91635	0.999	T	0.65331	-0.6194	10	0.87932	D	0	.	18.2503	0.90000	0.0:1.0:0.0:0.0	.	89	Q8NGF1	O52R1_HUMAN	C	89;168	ENSP00000348368:W89C;ENSP00000369742:W168C	ENSP00000348368:W89C	W	-	3	0	OR52R1	4781920	0.809000	0.29036	1.000000	0.80357	0.914000	0.54420	1.433000	0.34947	2.893000	0.99171	0.638000	0.83543	TGG		0.527	OR52R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142183.1	NM_001005177		31	56	1	0	3.99451e-17	0.740014	4.90235e-17	31	56					A	4825344	C	A	4825344	3	1	31	1	0	0	0	0	1	0	0	0	11131	508	18	5	683	5	OR52R1	11	4825344	Missense_Mutation	SNP	C	TCGA-CH-5765-01A-11D-1576-08		4825344	130181172	25	1546											
GIF	2694	broad.mit.edu	37	chr11	59608634	59608634	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	acctgcatggcgaggccagtActgtagatgtctccaatgat	10	10	11	10	1	1	2	0	1	1	1	2	3	1	2	3	2	2	3	3	2	3	2			TCGA-CH-5765-01A-11D-1576-08	TCGA-CH-5765-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23762450-360d-4930-b53b-611e0041327a	8994a220-e271-46ea-b68f-28388545c317	g.chr11:59608634A>G	ENST00000257248.2	-	5	722	c.675T>C	c.(673-675)agT>agC	p.S225S	GIF_ENST00000541311.1_Silent_p.S200S	NM_005142.2	NP_005133.2	P27352	IF_HUMAN	gastric intrinsic factor (vitamin B synthesis)	225					cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|cobalt ion transport (GO:0006824)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|endosome (GO:0005768)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|lysosomal lumen (GO:0043202)|microvillus (GO:0005902)	cobalamin binding (GO:0031419)	p.S225S(1)		large_intestine(4)|liver(1)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	17					Cyanocobalamin(DB00115)	CGAGGCCAGTACTGTAGATGT	0.463																																					NSCLC(53;1139 1245 16872 38474 42853)	ENST00000541311.1																			1	Substitution - coding silent(1)	p.S225S(1)	prostate(1)	large_intestine(4)|liver(1)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	17						c.(598-600)agT>agC		gastric intrinsic factor (vitamin B synthesis)							254	220	232					11																	59608634		2201	4295	6496	SO:0001819	synonymous_variant	2694				cobalamin metabolic process|cobalamin transport|cobalt ion transport	apical plasma membrane|endosome|extracellular space|microvillus	cobalamin binding	g.chr11:59608634A>G	X76562	CCDS7977.1	11q12.1	2013-09-20			ENSG00000134812	ENSG00000134812			4268	protein-coding gene	gene with protein product		609342				2071148	Standard	NM_005142		Approved	TCN3, IF, IFMH, INF	uc001noi.3	P27352	OTTHUMG00000167399	ENST00000257248.2:c.675T>C	11.37:g.59608634A>G						GIF_ENST00000257248.2_Silent_p.S225S	p.S200S			P27352	IF_HUMAN			5	834	-			225					B2RAN8|B4DVZ1	Silent	SNP	ENST00000257248.2	37	c.600T>C	CCDS7977.1																																																																																				0.463	GIF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394497.1	NM_005142		57	101	0	0	0	0.870114	0	57	101					G	59608634	A	G	59608634	2	3	31	1	0	0	0	0	0	0	0	1	6376	388	14	4		4	GIF	11	59608634	Silent	SNP	A	TCGA-CH-5765-01A-11D-1576-08	54783290	59608634	75397882	26	1547											
DUSP16	80824	broad.mit.edu	37	chr12	12630584	12630584	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agaaggaacgcttgagcttaTtgctgtcttccagcctgtct	8	13	10	10	1	2	2	0	1	2	1	3	3	3	3	2	1	4	3	2	1	3	4	rs529933489		TCGA-CH-5765-01A-11D-1576-08	TCGA-CH-5765-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23762450-360d-4930-b53b-611e0041327a	8994a220-e271-46ea-b68f-28388545c317	g.chr12:12630584T>C	ENST00000228862.2	-	7	1812	c.1181A>G	c.(1180-1182)aAt>aGt	p.N394S	DUSP16_ENST00000545864.1_5'Flank|DUSP16_ENST00000298573.4_3'UTR	NM_030640.2	NP_085143.1	Q9BY84	DUS16_HUMAN	dual specificity phosphatase 16	394					dephosphorylation (GO:0016311)|inactivation of MAPK activity (GO:0000188)|MAPK export from nucleus (GO:0045204)|MAPK phosphatase export from nucleus, leptomycin B sensitive (GO:0045209)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|nucleus (GO:0005634)	MAP kinase tyrosine/serine/threonine phosphatase activity (GO:0017017)|phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.N394S(1)		endometrium(7)|kidney(2)|large_intestine(6)|lung(6)|pancreas(1)|prostate(1)|urinary_tract(3)	26		Prostate(47;0.0687)		BRCA - Breast invasive adenocarcinoma(232;0.0203)		CTTGAGCTTATTGCTGTCTTC	0.552																																					Ovarian(158;443 1896 15437 36069 46477)	ENST00000228862.2																			1	Substitution - Missense(1)	p.N394S(1)	prostate(1)	endometrium(7)|kidney(2)|large_intestine(6)|lung(6)|pancreas(1)|prostate(1)|urinary_tract(3)	26						c.(1180-1182)aAt>aGt		dual specificity phosphatase 16							84	86	85					12																	12630584		2203	4300	6503	SO:0001583	missense	80824				inactivation of MAPK activity|MAPK export from nucleus|MAPK phosphatase export from nucleus, leptomycin B sensitive	cytoplasmic membrane-bounded vesicle|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity	g.chr12:12630584T>C	AB052156	CCDS8650.1	12p13	2011-06-09				ENSG00000111266		"Protein tyrosine phosphatases / Class I Cys-based PTPs : MAP kinase phosphatases"	17909	protein-coding gene	gene with protein product	"MAPK phosphatase-7"	607175				11359773, 11489891, 15888437	Standard	NM_030640		Approved	MKP-7, KIAA1700, MKP7	uc001rao.2	Q9BY84		ENST00000228862.2:c.1181A>G	12.37:g.12630584T>C	ENSP00000228862:p.Asn394Ser					DUSP16_ENST00000298573.4_3'UTR	p.N394S	NM_030640.2	NP_085143.1	Q9BY84	DUS16_HUMAN		BRCA - Breast invasive adenocarcinoma(232;0.0203)	7	1812	-		Prostate(47;0.0687)	394					Q547C7|Q96QS2|Q9C0G3	Missense_Mutation	SNP	ENST00000228862.2	37	c.1181A>G	CCDS8650.1	.	.	.	.	.	.	.	.	.	.	T	10.72	1.430563	0.25726	.	.	ENSG00000111266	ENST00000228862	T	0.02446	4.29	5.58	-10.6	0.00265	.	1.030640	0.07639	N	0.929921	T	0.02012	0.0063	L	0.31065	0.9	0.31816	N	0.626632	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.002	T	0.35649	-0.9780	10	0.44086	T	0.13	.	8.1408	0.31082	0.0:0.372:0.3007:0.3273	.	394;394	Q9BY84;Q96N49	DUS16_HUMAN;.	S	394	ENSP00000228862:N394S	ENSP00000228862:N394S	N	-	2	0	DUSP16	12521851	0.009000	0.17119	0.000000	0.03702	0.926000	0.56050	-0.717000	0.04986	-2.482000	0.00522	-0.468000	0.05107	AAT		0.552	DUSP16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400311.1	NM_030640		53	91	0	0	0	0.870114	0	53	91					C	12630584	T	C	12630584	3	2	31	1	0	0	0	0	1	0	0	0	4816	1493	52	4	820	4	DUSP16	12	12630584	Missense_Mutation	SNP	T	TCGA-CH-5765-01A-11D-1576-08		12630584	121221311	27	1548											
HNF1A	6927	broad.mit.edu	37	chr12	121437365	121437365	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ggccaccaccctccacgtccCcagccaggaccctgccagca	8	3	8	22	1	0	0	0	0	0	0	2	1	2	1	9	2	3	1	9	2	0	0	rs144674840		TCGA-CH-5765-01A-11D-1576-08	TCGA-CH-5765-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23762450-360d-4930-b53b-611e0041327a	8994a220-e271-46ea-b68f-28388545c317	g.chr12:121437365C>T	ENST00000257555.6	+	9	1929	c.1703C>T	c.(1702-1704)cCc>cTc	p.P568L	HNF1A_ENST00000544413.1_Missense_Mutation_p.P575L|HNF1A_ENST00000541395.1_Missense_Mutation_p.P599L|RP11-216P16.2_ENST00000606238.1_RNA			P20823	HNF1A_HUMAN	HNF1 homeobox A	568					glucose homeostasis (GO:0042593)|glucose import (GO:0046323)|insulin secretion (GO:0030073)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|renal glucose absorption (GO:0035623)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|protein dimerization activity (GO:0046983)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)	p.P568L(2)		breast(3)|central_nervous_system(2)|cervix(1)|endometrium(8)|large_intestine(19)|liver(175)|lung(9)|ovary(2)|prostate(1)|urinary_tract(1)	221	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					CTCCACGTCCCCAGCCAGGAC	0.687									Hepatic Adenoma, Familial Clustering of																													ENST00000257555.6																			2	Substitution - Missense(2)	p.P568L(2)	prostate(2)	breast(3)|central_nervous_system(2)|cervix(1)|endometrium(8)|large_intestine(19)|liver(175)|lung(9)|ovary(2)|prostate(1)|urinary_tract(1)	221						c.(1702-1704)cCc>cTc		HNF1 homeobox A		C	LEU/PRO	1,4399		0,1,2199	23	23	23		1703	5.7	1	12	dbSNP_134	23	0,8594		0,0,4297	no	missense	HNF1A	NM_000545.5	98	0,1,6496	TT,TC,CC		0.0,0.0227,0.0077	benign	568/632	121437365	1,12993	2200	4297	6497	SO:0001583	missense	6927	Hepatic Adenoma, Familial Clustering of	Familial Cancer Database	incl. Maturity-Onset Diabetes of the Young type 3, MODY3	glucose homeostasis|glucose import|insulin secretion|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|renal glucose absorption	cytoplasm|nucleus|protein complex	DNA binding|protein dimerization activity|protein heterodimerization activity|protein homodimerization activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	g.chr12:121437365C>T	M57732	CCDS9209.1	12q24.31	2014-09-17	2007-08-24	2007-08-24	ENSG00000135100	ENSG00000135100		"Homeoboxes / HNF class"	11621	protein-coding gene	gene with protein product		142410	"transcription factor 1, hepatic; LF-B1, hepatic nuclear factor (HNF1), albumin proximal factor"	MODY3, TCF1		1535333, 7795649	Standard	NM_000545		Approved	HNF1, LFB1	uc001tzg.3	P20823	OTTHUMG00000151015	ENST00000257555.6:c.1703C>T	12.37:g.121437365C>T	ENSP00000257555:p.Pro568Leu					HNF1A_ENST00000541395.1_Missense_Mutation_p.P599L|HNF1A_ENST00000544413.1_Missense_Mutation_p.P575L	p.P568L			P20823	HNF1A_HUMAN			9	1929	+	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)		568					A5Z2R8|E0YMJ5|E0YMK0|E0YMK1|E2I9R4|E2I9R5|F5H5U3|Q2M3H2|Q99861	Missense_Mutation	SNP	ENST00000257555.6	37	c.1703C>T	CCDS9209.1	.	.	.	.	.	.	.	.	.	.	C	16.26	3.073371	0.55646	2.27E-4	0.0	ENSG00000135100	ENST00000257555;ENST00000535125;ENST00000537424;ENST00000543027;ENST00000541395;ENST00000544413	D;D;D	0.90844	-2.74;-2.74;-2.74	5.7	5.7	0.88788	Hepatocyte nuclear factor 1, alpha isoform C-terminal (1);	0.207712	0.33199	N	0.005175	T	0.81288	0.4791	N	0.19112	0.55	0.80722	D	1	B;B	0.34181	0.386;0.44	B;B	0.29077	0.059;0.098	T	0.78663	-0.2116	10	0.18276	T	0.48	-28.5995	12.4732	0.55799	0.178:0.822:0.0:0.0	.	575;568	F5H0K0;P20823	.;HNF1A_HUMAN	L	568;460;568;389;599;575	ENSP00000257555:P568L;ENSP00000443112:P599L;ENSP00000438804:P575L	ENSP00000257555:P568L	P	+	2	0	HNF1A	119921748	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	2.832000	0.48152	2.685000	0.91497	0.650000	0.86243	CCC		0.687	HNF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320957.5	NM_000545		14	15	0	0	0	0.457914	0	14	15					T	121437365	C	T	121437365	3	4	31	1	0	0	0	0	1	0	0	0	7251	623	22	3	1737	3	HNF1A	12	121437365	Missense_Mutation	SNP	C	TCGA-CH-5765-01A-11D-1576-08	108806781	121437365	12414530	28	1549											
CLIP1	6249	broad.mit.edu	37	chr12	122825728	122825728	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgttgattctgcaaattttCtatttcgtgttggtaatcta	8	21	7	5	1	3	1	0	1	3	0	4	1	3	1	0	1	1	4	0	1	4	10			TCGA-CH-5765-01A-11D-1576-08	TCGA-CH-5765-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23762450-360d-4930-b53b-611e0041327a	8994a220-e271-46ea-b68f-28388545c317	g.chr12:122825728C>A	ENST00000540338.1	-	10	2064	c.2023G>T	c.(2023-2025)Gaa>Taa	p.E675*	CLIP1_ENST00000537178.1_Nonsense_Mutation_p.E629*|CLIP1_ENST00000358808.2_Nonsense_Mutation_p.E664*|CLIP1_ENST00000302528.7_Nonsense_Mutation_p.E664*|CLIP1_ENST00000361654.4_Nonsense_Mutation_p.E629*|CLIP1_ENST00000545889.1_Nonsense_Mutation_p.E365*			P30622	CLIP1_HUMAN	CAP-GLY domain containing linker protein 1	675					microtubule bundle formation (GO:0001578)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|positive regulation of microtubule polymerization (GO:0031116)|transport (GO:0006810)	cell projection (GO:0042995)|centrosome (GO:0005813)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endosome (GO:0005768)|intermediate filament (GO:0005882)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)	metal ion binding (GO:0046872)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|nucleic acid binding (GO:0003676)|protein homodimerization activity (GO:0042803)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)	p.E664*(1)		NS(1)|breast(5)|endometrium(4)|kidney(5)|large_intestine(16)|liver(1)|lung(21)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226)		TGCAAATTTTCTATTTCGTGT	0.388																																						ENST00000358808.2																			1	Substitution - Nonsense(1)	p.E664*(1)	prostate(1)	NS(1)|breast(5)|endometrium(4)|kidney(5)|large_intestine(16)|liver(1)|lung(21)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						c.(1990-1992)Gaa>Taa		CAP-GLY domain containing linker protein 1							138	143	142					12																	122825728		2203	4300	6503	SO:0001587	stop_gained	6249				mitotic prometaphase|positive regulation of microtubule polymerization	centrosome|cytosol|endosome|intermediate filament|kinetochore	nucleic acid binding|protein homodimerization activity|zinc ion binding	g.chr12:122825728C>A		CCDS9232.1, CCDS9233.1, CCDS58285.1	12q24.3	2013-01-17	2007-01-05	2007-01-05	ENSG00000130779	ENSG00000130779			10461	protein-coding gene	gene with protein product	"restin"	179838	"restin (Reed-Steinberg cell-expressed intermediate filament-associated protein)"	RSN		8222754	Standard	NM_001247997		Approved	CYLN1, CLIP170, CLIP, CLIP-170	uc001ucg.2	P30622	OTTHUMG00000168922	ENST00000540338.1:c.2023G>T	12.37:g.122825728C>A	ENSP00000439093:p.Glu675*					CLIP1_ENST00000545889.1_Nonsense_Mutation_p.E365*|CLIP1_ENST00000540338.1_Nonsense_Mutation_p.E675*|CLIP1_ENST00000537178.1_Nonsense_Mutation_p.E629*|CLIP1_ENST00000361654.4_Nonsense_Mutation_p.E629*|CLIP1_ENST00000302528.7_Nonsense_Mutation_p.E664*	p.E664*	NM_001247997.1|NM_002956.2	NP_001234926.1|NP_002947.1	P30622	CLIP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226)	10	2144	-	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		675					A0AVD3|Q17RS4|Q29RG0	Nonsense_Mutation	SNP	ENST00000540338.1	37	c.1990G>T	CCDS58285.1	.	.	.	.	.	.	.	.	.	.	C	38	7.270435	0.98179	.	.	ENSG00000130779	ENST00000545889;ENST00000302528;ENST00000358808;ENST00000542885;ENST00000537178;ENST00000540338;ENST00000540304	.	.	.	5.5	4.61	0.57282	.	0.203872	0.49305	D	0.000143	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.23891	T	0.37	-10.3364	8.0875	0.30782	0.1306:0.7303:0.0:0.1391	.	.	.	.	X	365;664;664;509;629;675;598	.	ENSP00000303585:E664X	E	-	1	0	CLIP1	121391681	0.998000	0.40836	0.991000	0.47740	0.976000	0.68499	3.845000	0.55880	1.459000	0.47892	0.655000	0.94253	GAA		0.388	CLIP1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000401625.1	NM_002956		147	255	1	0	3.04763e-91	0.870114	3.85716e-91	147	255					A	122825728	C	A	122825728	4	1	31	1	0	0	0	0	0	1	0	0	3532	922	32	5	2357	5	CLIP1	12	122825728	Nonsense_Mutation	SNP	C	TCGA-CH-5765-01A-11D-1576-08	1388363	122825728	11026167	29	1550											
MTUS2	23281	broad.mit.edu	37	chr13	29599666	29599666	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agtgagcacacatcacattcCgcccatccagagcctgctct	10	8	7	16	1	2	2	1	1	1	1	4	2	4	2	4	0	3	2	4	0	0	1	rs373502341		TCGA-CH-5765-01A-11D-1576-08	TCGA-CH-5765-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23762450-360d-4930-b53b-611e0041327a	8994a220-e271-46ea-b68f-28388545c317	g.chr13:29599666C>T	ENST00000431530.3	+	1	919	c.861C>T	c.(859-861)tcC>tcT	p.S287S		NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN	microtubule associated tumor suppressor candidate 2	277						cytoplasm (GO:0005737)|microtubule (GO:0005874)	microtubule binding (GO:0008017)|protein homodimerization activity (GO:0042803)	p.S287S(2)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						CATCACATTCCGCCCATCCAG	0.517																																						ENST00000431530.3																			2	Substitution - coding silent(2)	p.S287S(2)	prostate(1)|endometrium(1)	NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						c.(859-861)tcC>tcT		microtubule associated tumor suppressor candidate 2		C		0,4238		0,0,2119	42	43	43		861	-7.2	0	13		43	1,8485		0,1,4242	no	coding-synonymous	MTUS2	NM_001033602.2		0,1,6361	TT,TC,CC		0.0118,0.0,0.0079		287/1380	29599666	1,12723	2119	4243	6362	SO:0001819	synonymous_variant	23281					cytoplasm|microtubule	microtubule binding|protein homodimerization activity	g.chr13:29599666C>T	AB018317	CCDS41874.1, CCDS45022.1	13q12.3	2013-01-17	2009-10-20	2009-10-20	ENSG00000132938	ENSG00000132938			20595	protein-coding gene	gene with protein product	"+TIP of 150 kDa", "cardiac zipper protein"		"KIAA0774"	KIAA0774		19543227	Standard	NM_001033602		Approved	TIP150, CAZIP, ICIS	uc001usl.4	Q5JR59	OTTHUMG00000016657	ENST00000431530.3:c.861C>T	13.37:g.29599666C>T							p.S287S	NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN			1	919	+			277					A7E292|B4DF81|O94872|Q08E97|Q5JQR3|Q8N5E2	Silent	SNP	ENST00000431530.3	37	c.861C>T	CCDS45022.1																																																																																				0.517	MTUS2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000044336.3	XM_166270		12	23	0	0	0	0.38729	0	12	23					T	29599666	C	T	29599666	2	4	31	1	0	0	0	0	0	0	0	1	9966	639	23	2		2	MTUS2	13	29599666	Silent	SNP	C	TCGA-CH-5765-01A-11D-1576-08		29599666	85570212	30	1551											
ZNF828	283489	broad.mit.edu	37	chr13	115090481	115090481	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctccccctgcatctcctgaGtcatggaagtctggcccacc	6	10	8	17	0	4	1	1	1	3	0	6	2	4	2	5	2	1	1	5	2	1	0			TCGA-CH-5765-01A-11D-1576-08	TCGA-CH-5765-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23762450-360d-4930-b53b-611e0041327a	8994a220-e271-46ea-b68f-28388545c317	g.chr13:115090481G>A	ENST00000361283.1	+	3	1473	c.1164G>A	c.(1162-1164)gaG>gaA	p.E388E		NM_001164144.1|NM_001164145.1|NM_032436.2	NP_001157616.1|NP_001157617.1|NP_115812.1	Q96JM3	CHAP1_HUMAN	chromosome alignment maintaining phosphoprotein 1	388	Mediates interaction with MAD2L2.|Pro-rich.				attachment of spindle microtubules to kinetochore involved in mitotic sister chromatid segregation (GO:0051315)|protein localization to kinetochore (GO:0034501)|protein localization to microtubule (GO:0035372)|sister chromatid biorientation (GO:0031134)	condensed chromosome (GO:0000793)|condensed chromosome kinetochore (GO:0000777)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|spindle (GO:0005819)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)	p.E388E(1)									CATCTCCTGAGTCATGGAAGT	0.542																																						ENST00000361283.1																			1	Substitution - coding silent(1)	p.E388E(1)	prostate(1)								c.(1162-1164)gaG>gaA		chromosome alignment maintaining phosphoprotein 1							109	114	112					13																	115090481		2203	4300	6503	SO:0001819	synonymous_variant	283489				attachment of spindle microtubules to kinetochore involved in mitotic sister chromatid segregation|protein localization to kinetochore|protein localization to microtubule|sister chromatid biorientation	condensed chromosome kinetochore|cytoplasm|nucleus|spindle	nucleic acid binding|protein binding|zinc ion binding	g.chr13:115090481G>A	AK074894	CCDS9545.1	13q34	2013-01-07	2011-10-07	2011-10-07	ENSG00000198824	ENSG00000198824		"Zinc fingers, C2H2-type"	20311	protein-coding gene	gene with protein product	"chromosome alignment-maintaining phosphoprotein"		"chromosome 13 open reading frame 8", "zinc finger protein 828"	C13orf8, ZNF828		21063390	Standard	NM_032436		Approved	CAMP, CHAMP	uc010ahb.3	Q96JM3	OTTHUMG00000017404	ENST00000361283.1:c.1164G>A	13.37:g.115090481G>A							p.E388E	NM_001164144.1|NM_001164145.1|NM_032436.2	NP_001157616.1|NP_001157617.1|NP_115812.1	Q96JM3	ZN828_HUMAN			3	1473	+			388			Mediates interaction with MAD2L2.|Pro-rich.		B3KU06|Q6P181|Q8NC88|Q9BST0	Silent	SNP	ENST00000361283.1	37	c.1164G>A	CCDS9545.1																																																																																				0.542	CHAMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045977.2	NM_032436		13	231	0	0	0	0.411799	0	13	231					A	115090481	G	A	115090481	2	1	31	1	0	0	0	0	0	0	0	1	18178	1020	36	3		3	ZNF828	13	115090481	Silent	SNP	G	TCGA-CH-5765-01A-11D-1576-08	85490815	115090481	79397	31	1552											
EFS	10278	broad.mit.edu	37	chr14	23828655	23828655	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttggggcctccataaccaggCaggcggggtgggggtggggg	5	6	22	8	1	0	0	0	0	0	0	1	0	1	0	3	10	1	1	3	10	1	2			TCGA-CH-5765-01A-11D-1576-08	TCGA-CH-5765-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23762450-360d-4930-b53b-611e0041327a	8994a220-e271-46ea-b68f-28388545c317	g.chr14:23828655C>T	ENST00000216733.3	-	4	1639	c.1032G>A	c.(1030-1032)ctG>ctA	p.L344L	EFS_ENST00000429593.2_Silent_p.L175L|RP11-124D2.3_ENST00000554010.1_RNA|EFS_ENST00000351354.3_Silent_p.L251L	NM_005864.2	NP_005855.1	O43281	EFS_HUMAN	embryonal Fyn-associated substrate	344	Pro-rich.				cell adhesion (GO:0007155)|intracellular signal transduction (GO:0035556)	cytoplasm (GO:0005737)	protein domain specific binding (GO:0019904)	p.L344L(1)		endometrium(2)|kidney(1)|large_intestine(1)|liver(1)|lung(5)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)	16	all_cancers(95;7.12e-06)			GBM - Glioblastoma multiforme(265;0.00649)		CATAACCAGGCAGGCGGGGTG	0.687																																						ENST00000216733.3																			1	Substitution - coding silent(1)	p.L344L(1)	prostate(1)	endometrium(2)|kidney(1)|large_intestine(1)|liver(1)|lung(5)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)	16						c.(1030-1032)ctG>ctA		embryonal Fyn-associated substrate							39	38	39					14																	23828655		2031	4002	6033	SO:0001819	synonymous_variant	0				cell adhesion|intracellular signal transduction	cytoplasm	SH3 domain binding	g.chr14:23828655C>T	AB001466	CCDS9595.1, CCDS9596.1, CCDS61404.1	14q11.2-q12	2011-04-13			ENSG00000100842	ENSG00000100842		"Cas scaffolding proteins"	16898	protein-coding gene	gene with protein product	"Cas scaffolding protein family member 3"	609906				9349509	Standard	NM_005864		Approved	EFS2, EFS1, HEFS, SIN, CASS3	uc001wjo.4	O43281	OTTHUMG00000028741	ENST00000216733.3:c.1032G>A	14.37:g.23828655C>T						EFS_ENST00000429593.2_Silent_p.L175L|EFS_ENST00000351354.3_Silent_p.L251L	p.L344L	NM_005864.2	NP_005855.1	O43281	EFS_HUMAN		GBM - Glioblastoma multiforme(265;0.00649)	4	1639	-	all_cancers(95;7.12e-06)		344			Pro-rich.		B2RAJ7|B4DJ56|E9PGU2|O43282	Silent	SNP	ENST00000216733.3	37	c.1032G>A	CCDS9595.1																																																																																				0.687	EFS-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071770.2			33	61	0	0	0	0.760397	0	33	61					T	23828655	C	T	23828655	2	4	31	1	0	0	0	0	0	0	0	1	4959	697	25	3		3	EFS	14	23828655	Silent	SNP	C	TCGA-CH-5765-01A-11D-1576-08		23828655	83520885	32	1553											
NOVA1	4857	broad.mit.edu	37	chr14	26917261	26917261	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctgtgttgcagctggtgtTccagtaatggttaccttccg	5	14	12	10	1	0	0	0	0	0	0	2	0	2	0	4	2	3	6	4	2	2	5			TCGA-CH-5765-01A-11D-1576-08	TCGA-CH-5765-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23762450-360d-4930-b53b-611e0041327a	8994a220-e271-46ea-b68f-28388545c317	g.chr14:26917261T>C	ENST00000539517.2	-	5	1745	c.1428A>G	c.(1426-1428)ggA>ggG	p.G476G	NOVA1_ENST00000267422.7_Silent_p.G354G|NOVA1_ENST00000465357.2_Silent_p.G452G	NM_002515.2	NP_002506.2	P51513	NOVA1_HUMAN	neuro-oncological ventral antigen 1	479	KH 3. {ECO:0000255|PROSITE- ProRule:PRU00117}.				locomotory behavior (GO:0007626)|mRNA splicing, via spliceosome (GO:0000398)|regulation of RNA metabolic process (GO:0051252)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|synaptic transmission (GO:0007268)	intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|nucleus (GO:0005634)	mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.G476G(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40				GBM - Glioblastoma multiforme(265;0.0135)		CAGCTGGTGTTCCAGTAATGG	0.458																																						ENST00000539517.2																			1	Substitution - coding silent(1)	p.G476G(1)	prostate(1)	breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40						c.(1426-1428)ggA>ggG		neuro-oncological ventral antigen 1							152	130	137					14																	26917261		2203	4300	6503	SO:0001819	synonymous_variant	4857				locomotory behavior|RNA splicing|synaptic transmission	nucleus	RNA binding	g.chr14:26917261T>C	U04840	CCDS9635.1, CCDS32060.1, CCDS32061.1	14q12	2006-06-09			ENSG00000139910	ENSG00000139910			7886	protein-coding gene	gene with protein product		602157				8558240	Standard	NM_006489		Approved		uc001wpy.3	P51513	OTTHUMG00000029385	ENST00000539517.2:c.1428A>G	14.37:g.26917261T>C						NOVA1_ENST00000267422.7_Silent_p.G354G|NOVA1_ENST00000465357.2_Silent_p.G452G	p.G476G	NM_002515.2	NP_002506.2	P51513	NOVA1_HUMAN		GBM - Glioblastoma multiforme(265;0.0135)	5	1745	-			479			KH 3.		A8K0S4|A8K4Q7|D3DS81|D3DS82|Q6B004	Silent	SNP	ENST00000539517.2	37	c.1428A>G	CCDS32061.1																																																																																				0.458	NOVA1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000073261.3	NM_006491		50	90	0	0	0	0.870114	0	50	90					C	26917261	T	C	26917261	2	2	31	1	0	0	0	0	0	0	0	1	10554	1770	62	4		4	NOVA1	14	26917261	Silent	SNP	T	TCGA-CH-5765-01A-11D-1576-08	3088606	26917261	80432279	33	1554											
C14orf129	51527	broad.mit.edu	37	chr14	96848763	96848763	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctcgaaaagcctgcggtgtgCggatgatgtggcctatatca	9	10	13	9	3	1	1	1	1	0	0	2	3	1	2	2	3	3	0	2	3	4	2			TCGA-CH-5765-01A-11D-1576-08	TCGA-CH-5765-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23762450-360d-4930-b53b-611e0041327a	8994a220-e271-46ea-b68f-28388545c317	g.chr14:96848763C>T	ENST00000556095.1	+	3	1991	c.179C>T	c.(178-180)gCg>gTg	p.A60V	GSKIP_ENST00000554182.1_Missense_Mutation_p.A60V|GSKIP_ENST00000438650.1_Missense_Mutation_p.A60V|RNU2-33P_ENST00000410344.1_RNA|GSKIP_ENST00000555181.1_Missense_Mutation_p.A60V	NM_001271904.1	NP_001258833.1	Q9P0R6	GSKIP_HUMAN	GSK3B interacting protein	60						cytoplasm (GO:0005737)		p.A60V(1)									CTGCGGTGTGCGGATGATGTG	0.428																																						ENST00000556095.1																			1	Substitution - Missense(1)	p.A60V(1)	prostate(1)								c.(178-180)gCg>gTg		GSK3B interacting protein							145	138	140					14																	96848763		2203	4300	6503	SO:0001583	missense	51527							g.chr14:96848763C>T	AF151044	CCDS32153.1	14q32.2	2012-09-25	2012-09-25	2012-09-25	ENSG00000100744	ENSG00000100744			20343	protein-coding gene	gene with protein product	"GSK3beta interaction protein"		"chromosome 14 open reading frame 129"	C14orf129		16981698, 21328310	Standard	NM_001271904		Approved		uc031qqf.1	Q9P0R6	OTTHUMG00000171420	ENST00000556095.1:c.179C>T	14.37:g.96848763C>T	ENSP00000451188:p.Ala60Val					GSKIP_ENST00000554182.1_Missense_Mutation_p.A60V|GSKIP_ENST00000438650.1_Missense_Mutation_p.A60V|GSKIP_ENST00000555181.1_Missense_Mutation_p.A60V	p.A60V	NM_001271904.1	NP_001258833.1					3	1991	+								B3KSZ0|Q9BST1|Q9NWK0	Missense_Mutation	SNP	ENST00000556095.1	37	c.179C>T	CCDS32153.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.312768	0.81358	.	.	ENSG00000100744	ENST00000555181;ENST00000553699;ENST00000554182;ENST00000556095;ENST00000438650;ENST00000555757	.	.	.	5.66	5.66	0.87406	GSKIP/TIF31 domain (1);	0.148693	0.64402	D	0.000013	T	0.51924	0.1703	L	0.44542	1.39	0.53005	D	0.999966	P	0.44090	0.826	B	0.36885	0.235	T	0.57785	-0.7751	9	0.56958	D	0.05	0.0417	19.7297	0.96177	0.0:1.0:0.0:0.0	.	60	Q9P0R6	GSKIP_HUMAN	V	60	.	ENSP00000412315:A60V	A	+	2	0	C14orf129	95918516	1.000000	0.71417	0.972000	0.41901	0.973000	0.67179	5.420000	0.66441	2.658000	0.90341	0.650000	0.86243	GCG		0.428	GSKIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413338.1	NM_016472		74	110	0	0	0	0.870114	0	74	110					T	96848763	C	T	96848763	3	4	31	1	0	0	0	0	1	0	0	0	1744	768	27	1	181	1	C14orf129	14	96848763	Missense_Mutation	SNP	C	TCGA-CH-5765-01A-11D-1576-08	69931502	96848763	10500777	34	1555											
CCNF	899	broad.mit.edu	37	chr16	2506607	2506607	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctgaacccagaacagcattgCtgccaggaatccagtgatga	13	7	10	11	0	0	4	0	3	0	1	1	5	1	5	3	1	5	2	3	1	3	1			TCGA-CH-5765-01A-11D-1576-08	TCGA-CH-5765-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23762450-360d-4930-b53b-611e0041327a	8994a220-e271-46ea-b68f-28388545c317	g.chr16:2506607C>T	ENST00000397066.4	+	17	2035	c.1947C>T	c.(1945-1947)tgC>tgT	p.C649C	RP11-715J22.4_ENST00000566085.1_lincRNA	NM_001761.2	NP_001752.2	P41002	CCNF_HUMAN	cyclin F	649	PEST.				mitotic nuclear division (GO:0007067)|negative regulation of centrosome duplication (GO:0010826)|placenta development (GO:0001890)|protein ubiquitination (GO:0016567)|re-entry into mitotic cell cycle (GO:0000320)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)	centriole (GO:0005814)|nucleus (GO:0005634)|SCF ubiquitin ligase complex (GO:0019005)		p.C649C(3)		breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(2)|lung(5)|prostate(4)|skin(1)	20		Ovarian(90;0.17)				AACAGCATTGCTGCCAGGAAT	0.607																																						ENST00000397066.4																			3	Substitution - coding silent(3)	p.C649C(3)	prostate(3)	breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(2)|lung(5)|prostate(4)|skin(1)	20						c.(1945-1947)tgC>tgT		cyclin F							66	60	62					16																	2506607		2198	4300	6498	SO:0001819	synonymous_variant	899				cell division|mitosis|negative regulation of centrosome duplication|protein ubiquitination|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	centriole|nucleus|SCF ubiquitin ligase complex	protein binding	g.chr16:2506607C>T	Z36714	CCDS10467.1	16p13.3	2008-02-05			ENSG00000162063	ENSG00000162063		"F-boxes /  "other""	1591	protein-coding gene	gene with protein product		600227				7896286	Standard	NM_001761		Approved	FBX1, FBXO1	uc002cqd.1	P41002	OTTHUMG00000128858	ENST00000397066.4:c.1947C>T	16.37:g.2506607C>T						RP11-715J22.4_ENST00000566085.1_lincRNA	p.C649C	NM_001761.2	NP_001752.2	P41002	CCNF_HUMAN			17	2035	+		Ovarian(90;0.17)	649			PEST.		B2R8H3|Q96EG9	Silent	SNP	ENST00000397066.4	37	c.1947C>T	CCDS10467.1																																																																																				0.607	CCNF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250801.1	NM_001761		25	42	0	0	0	0.693898	0	25	42					T	2506607	C	T	2506607	2	4	31	1	0	0	0	0	0	0	0	1	2922	805	28	3		3	CCNF	16	2506607	Silent	SNP	C	TCGA-CH-5765-01A-11D-1576-08		2506607	87848146	35	1556											
DDX19B	11269	broad.mit.edu	37	chr16	70363960	70363960	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaccattgctcaagccatgAtcttctgccatgtgagtagc	9	12	8	12	0	4	2	2	2	2	0	4	2	4	2	3	0	4	2	3	0	2	3			TCGA-CH-5765-01A-11D-1576-08	TCGA-CH-5765-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23762450-360d-4930-b53b-611e0041327a	8994a220-e271-46ea-b68f-28388545c317	g.chr16:70363960A>G	ENST00000288071.6	+	9	1257	c.1012A>G	c.(1012-1014)Atc>Gtc	p.I338V	RP11-529K1.3_ENST00000567706.1_Intron|RP11-529K1.2_ENST00000562077.1_RNA|DDX19B_ENST00000393657.2_Missense_Mutation_p.I229V|DDX19B_ENST00000563392.1_Missense_Mutation_p.I229V|DDX19B_ENST00000568625.1_Missense_Mutation_p.I229V|DDX19B_ENST00000563206.1_Missense_Mutation_p.I343V|DDX19B_ENST00000451014.3_Missense_Mutation_p.I312V|DDX19B_ENST00000355992.3_Missense_Mutation_p.I307V	NM_007242.5	NP_009173.1	Q9UMR2	DD19B_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 19B	338	C-terminal lobe.|Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				mRNA export from nucleus (GO:0006406)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|RNA binding (GO:0003723)	p.I338V(1)		cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|prostate(1)	9		Ovarian(137;0.0694)				TCAAGCCATGATCTTCTGCCA	0.592																																					Esophageal Squamous(26;382 757 1343 9728 15939)	ENST00000288071.6																			1	Substitution - Missense(1)	p.I338V(1)	prostate(1)	cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|prostate(1)	9						c.(1012-1014)Atc>Gtc		DEAD (Asp-Glu-Ala-Asp) box polypeptide 19B							156	127	137					16																	70363960		2198	4300	6498	SO:0001583	missense	11269				mRNA export from nucleus|protein transport|transmembrane transport	cytoplasm|nuclear membrane|nuclear pore	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding	g.chr16:70363960A>G	AJ237946	CCDS10888.1, CCDS32475.1, CCDS42187.1, CCDS58478.1	16q22.3	2012-02-23	2012-02-23	2005-07-13	ENSG00000157349	ENSG00000157349		"DEAD-boxes"	2742	protein-coding gene	gene with protein product		605812	"DEAD (Asp-Glu-Ala-As) box polypeptide 19", "DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 19 (Dbp5, yeast, homolog)"	DDX19		10428971	Standard	NM_007242		Approved	DBP5	uc002eyo.4	Q9UMR2	OTTHUMG00000137577	ENST00000288071.6:c.1012A>G	16.37:g.70363960A>G	ENSP00000288071:p.Ile338Val					DDX19B_ENST00000563392.1_Missense_Mutation_p.I229V|DDX19B_ENST00000355992.3_Missense_Mutation_p.I307V|DDX19B_ENST00000451014.3_Missense_Mutation_p.I312V|DDX19B_ENST00000393657.2_Missense_Mutation_p.I229V|DDX19B_ENST00000563206.1_Missense_Mutation_p.I343V|RP11-529K1.3_ENST00000567706.1_Intron|RP11-529K1.2_ENST00000562077.1_RNA|DDX19B_ENST00000568625.1_Missense_Mutation_p.I229V	p.I338V	NM_007242.5	NP_009173.1	Q9UMR2	DD19B_HUMAN			9	1257	+		Ovarian(137;0.0694)	338			Helicase C-terminal.		B3KNE9|B4DXS6|E7EMK4|Q6FIB7|Q6IAE0|Q96KE7|Q9H0U0	Missense_Mutation	SNP	ENST00000288071.6	37	c.1012A>G	CCDS10888.1	.	.	.	.	.	.	.	.	.	.	A	16.02	3.004473	0.54254	.	.	ENSG00000157349	ENST00000451014;ENST00000355992;ENST00000393657;ENST00000288071	T;T;T;T	0.04360	3.64;3.64;3.64;3.64	5.19	5.19	0.71726	Helicase, C-terminal (1);	0.048613	0.85682	D	0.000000	T	0.05640	0.0148	L	0.33293	1	0.80722	D	1	B;B;B	0.12630	0.006;0.0;0.002	B;B;B	0.19946	0.027;0.001;0.005	T	0.29518	-1.0009	10	0.56958	D	0.05	-10.709	13.0428	0.58910	1.0:0.0:0.0:0.0	.	312;307;338	E7EMK4;Q9UMR2-2;Q9UMR2	.;.;DD19B_HUMAN	V	312;307;229;338	ENSP00000392639:I312V;ENSP00000348271:I307V;ENSP00000377267:I229V;ENSP00000288071:I338V	ENSP00000288071:I338V	I	+	1	0	DDX19B	68921461	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.801000	0.62532	2.192000	0.70111	0.496000	0.49642	ATC		0.592	DDX19B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268965.3	NM_007242		11	150	0	0	0	0.457914	0	11	150					G	70363960	A	G	70363960	3	3	31	1	0	0	0	0	1	0	0	0	4347	333	12	4	1046	4	DDX19B	16	70363960	Missense_Mutation	SNP	A	TCGA-CH-5765-01A-11D-1576-08	67857353	70363960	19990793	36	1557											
HAP1	9001	broad.mit.edu	37	chr17	39881381	39881381	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aaacccccgcacctgctctcGatcctcactgtagcgaaaat	11	8	6	16	3	2	0	1	0	1	0	4	2	3	0	4	0	3	3	4	0	4	1	rs151108506		TCGA-CH-5765-01A-11D-1576-08	TCGA-CH-5765-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23762450-360d-4930-b53b-611e0041327a	8994a220-e271-46ea-b68f-28388545c317	g.chr17:39881381G>A	ENST00000310778.5	-	12	1597	c.1588C>T	c.(1588-1590)Cga>Tga	p.R530*	HAP1_ENST00000347901.4_Nonsense_Mutation_p.R478*|JUP_ENST00000540235.1_Intron|HAP1_ENST00000393939.2_Nonsense_Mutation_p.R453*|HAP1_ENST00000341193.5_Nonsense_Mutation_p.R461*			P54257	HAP1_HUMAN	huntingtin-associated protein 1	530	Glu-rich.				anterograde axon cargo transport (GO:0008089)|autophagy (GO:0006914)|brain development (GO:0007420)|cell projection organization (GO:0030030)|exocytosis (GO:0006887)|negative regulation of beta-amyloid formation (GO:1902430)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of epidermal growth factor receptor signaling pathway (GO:0045742)|positive regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031587)|positive regulation of neurotrophin production (GO:0032901)|positive regulation of nonmotile primary cilium assembly (GO:1902857)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|protein localization (GO:0008104)|protein transport (GO:0015031)|regulation of exocytosis (GO:0017157)|regulation of organelle transport along microtubule (GO:1902513)|retrograde axon cargo transport (GO:0008090)|synaptic transmission (GO:0007268)|vesicle transport along microtubule (GO:0047496)	actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|inclusion body (GO:0016234)|lysosome (GO:0005764)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|synapse (GO:0045202)	brain-derived neurotrophic factor binding (GO:0048403)|ion channel binding (GO:0044325)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(4)|skin(1)	21		Breast(137;0.000162)	BRCA - Breast invasive adenocarcinoma(4;0.0677)			ACCTGCTCTCGATCCTCACTG	0.607																																						ENST00000393939.2																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(4)|skin(1)	21						c.(1357-1359)Cga>Tga		huntingtin-associated protein 1							113	125	121					17																	39881381		2203	4300	6503	SO:0001587	stop_gained	9001				brain development|protein localization|synaptic transmission	actin cytoskeleton	protein binding	g.chr17:39881381G>A	AF040723	CCDS11406.1, CCDS42338.1, CCDS42339.1	17q21.2-q21.3	2008-04-23	2008-04-23		ENSG00000173805	ENSG00000173805			4812	protein-coding gene	gene with protein product	"neuroan 1"	600947		HAP2		7477378, 9668110	Standard	NM_177977		Approved	HLP, hHLP1, HIP5	uc002hxn.1	P54257	OTTHUMG00000133498	ENST00000310778.5:c.1588C>T	17.37:g.39881381G>A	ENSP00000309392:p.Arg530*					HAP1_ENST00000347901.4_Nonsense_Mutation_p.R478*|JUP_ENST00000540235.1_Intron|HAP1_ENST00000341193.5_Nonsense_Mutation_p.R461*|HAP1_ENST00000310778.5_Nonsense_Mutation_p.R530*	p.R453*			P54257	HAP1_HUMAN	BRCA - Breast invasive adenocarcinoma(4;0.0677)		10	1366	-		Breast(137;0.000162)	477			Glu-rich.|HAP1 N-terminal.		A8MQB5|O75358|Q59GK4|Q9H4G3|Q9HA98|Q9NY90	Nonsense_Mutation	SNP	ENST00000310778.5	37	c.1357C>T		.	.	.	.	.	.	.	.	.	.	G	21.3	4.132326	0.77662	.	.	ENSG00000173805	ENST00000442364;ENST00000393939;ENST00000310778;ENST00000347901;ENST00000341193	.	.	.	3.44	0.131	0.14755	.	1.577690	0.04530	N	0.386100	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	0.7645	8.9772	0.35944	0.0:0.131:0.5715:0.2975	.	.	.	.	X	5;453;530;478;461	.	ENSP00000309392:R530X	R	-	1	2	HAP1	37134907	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.042000	0.13949	-0.181000	0.10619	-2.529000	0.00182	CGA		0.607	HAP1-006	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000389619.1	NM_003949		6	300	0	0	0	0.27861	0	6	300					A	39881381	G	A	39881381	4	1	31	1	0	0	0	0	0	1	0	0	6953	1066	37	2	431	2	HAP1	17	39881381	Nonsense_Mutation	SNP	G	TCGA-CH-5765-01A-11D-1576-08		39881381	41313829	37	1558											
MRPL38	64978	broad.mit.edu	37	chr17	73897875	73897875	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aggccacgtgcagggggactCggggcacaaaggtggcaccg	9	3	18	11	3	0	0	0	0	0	0	1	1	0	1	2	7	1	3	2	7	1	0			TCGA-CH-5765-01A-11D-1576-08	TCGA-CH-5765-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23762450-360d-4930-b53b-611e0041327a	8994a220-e271-46ea-b68f-28388545c317	g.chr17:73897875C>T	ENST00000309352.3	-	4	1046	c.509G>A	c.(508-510)cGa>cAa	p.R170Q	MRPL38_ENST00000585475.1_5'UTR|RP11-552F3.10_ENST00000587267.1_RNA|MRPL38_ENST00000409963.3_5'UTR	NM_032478.3	NP_115867.2	Q96DV4	RM38_HUMAN	mitochondrial ribosomal protein L38	170						mitochondrion (GO:0005739)|ribosome (GO:0005840)		p.R170Q(1)		ovary(1)|pancreas(1)|prostate(2)|skin(1)	5			all cancers(21;0.000154)|Epithelial(20;0.000156)|BRCA - Breast invasive adenocarcinoma(9;0.00936)|LUSC - Lung squamous cell carcinoma(166;0.154)			CAGGGGGACTCGGGGCACAAA	0.607																																						ENST00000309352.3																			1	Substitution - Missense(1)	p.R170Q(1)	prostate(1)	ovary(1)|pancreas(1)|prostate(2)|skin(1)	5						c.(508-510)cGa>cAa		mitochondrial ribosomal protein L38							84	64	70					17																	73897875		2202	4300	6502	SO:0001583	missense	64978					actin cytoskeleton|mitochondrion|ribosome		g.chr17:73897875C>T	AB051345	CCDS11733.2	17q23-q25	2012-09-13			ENSG00000204316	ENSG00000204316		"Mitochondrial ribosomal proteins / large subunits"	14033	protein-coding gene	gene with protein product		611844				11543634	Standard	NM_032478		Approved	RPML3, MRP-L3, HSPC262, MGC4810	uc010wso.1	Q96DV4	OTTHUMG00000152977	ENST00000309352.3:c.509G>A	17.37:g.73897875C>T	ENSP00000308275:p.Arg170Gln					MRPL38_ENST00000585475.1_5'UTR|MRPL38_ENST00000409963.3_5'UTR	p.R170Q	NM_032478.3	NP_115867.2	Q96DV4	RM38_HUMAN	all cancers(21;0.000154)|Epithelial(20;0.000156)|BRCA - Breast invasive adenocarcinoma(9;0.00936)|LUSC - Lung squamous cell carcinoma(166;0.154)		4	1046	-			170					B3KN96|Q96Q66|Q9P0B9	Missense_Mutation	SNP	ENST00000309352.3	37	c.509G>A	CCDS11733.2	.	.	.	.	.	.	.	.	.	.	C	11.10	1.538415	0.27475	.	.	ENSG00000204316	ENST00000309352	T	0.21543	2.0	5.43	4.46	0.54185	.	0.389746	0.27236	N	0.020295	T	0.17109	0.0411	L	0.48362	1.52	0.80722	D	1	B	0.13145	0.007	B	0.12156	0.007	T	0.04400	-1.0954	10	0.09843	T	0.71	-7.5846	11.0482	0.47872	0.0:0.851:0.0:0.149	.	170	Q96DV4	RM38_HUMAN	Q	170	ENSP00000308275:R170Q	ENSP00000308275:R170Q	R	-	2	0	MRPL38	71409470	0.995000	0.38212	0.785000	0.31869	0.355000	0.29361	3.512000	0.53407	1.282000	0.44496	0.650000	0.86243	CGA		0.607	MRPL38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328829.1	NM_032478		29	49	0	0	0	0.706142	0	29	49					T	73897875	C	T	73897875	3	4	31	1	0	0	0	0	1	0	0	0	9801	884	31	2	657	2	MRPL38	17	73897875	Missense_Mutation	SNP	C	TCGA-CH-5765-01A-11D-1576-08	34016494	73897875	7297335	38	1559											
ESCO1	114799	broad.mit.edu	37	chr18	19153404	19153406	+	In_Frame_Del	DEL	ATC	ATC	-																															ttattaatttctactgtaatAtcattaattttcacttcttc																								rs557869178		TCGA-CH-5765-01A-11D-1576-08	TCGA-CH-5765-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23762450-360d-4930-b53b-611e0041327a	8994a220-e271-46ea-b68f-28388545c317	g.chr18:19153404_19153406delATC	ENST00000269214.5	-	4	2336_2338	c.1399_1401delGAT	c.(1399-1401)gatdel	p.D467del		NM_052911.2	NP_443143.2	Q5FWF5	ESCO1_HUMAN	establishment of sister chromatid cohesion N-acetyltransferase 1	467					mitotic cell cycle (GO:0000278)|post-translational protein acetylation (GO:0034421)|regulation of DNA replication (GO:0006275)|sister chromatid cohesion (GO:0007062)	chromatin (GO:0000785)|nucleoplasm (GO:0005654)	metal ion binding (GO:0046872)|transferase activity, transferring acyl groups (GO:0016746)			breast(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(10)|prostate(3)|upper_aerodigestive_tract(1)	35						CTACTGTAATATCATTAATTTTC	0.33																																						ENST00000269214.5																			0				breast(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(10)|prostate(3)|upper_aerodigestive_tract(1)	35						c.(1399-1401)del		establishment of sister chromatid cohesion N-acetyltransferase 1																																				SO:0001651	inframe_deletion	114799				cell cycle|post-translational protein acetylation|regulation of DNA replication	chromatin|nucleus	acyltransferase activity|metal ion binding	g.chr18:19153404_19153406delATC	AL832041	CCDS32800.1	18q11.2	2013-05-02	2013-05-02		ENSG00000141446	ENSG00000141446			24645	protein-coding gene	gene with protein product		609674	"establishment of cohesion 1 homolog 1 (S. cerevisiae)"			11572484, 14576321, 15958495	Standard	NM_052911		Approved	ESO1, EFO1, KIAA1911	uc002kth.1	Q5FWF5		ENST00000269214.5:c.1399_1401delGAT	18.37:g.19153404_19153406delATC	ENSP00000269214:p.Asp467del						p.D467del	NM_052911.2	NP_443143.2	Q5FWF5	ESCO1_HUMAN			4	2336_2338	-			467					B0YJ11|B0YJ12|Q69YG4|Q69YS3|Q6IMD7|Q8N3Z5|Q8NBG2|Q96PX7	In_Frame_Del	DEL	ENST00000269214.5	37	c.1399_1401delGAT	CCDS32800.1																																																																																				0.33	ESCO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443942.1	NM_052911		57	126						57	126	---	---	---	---	-	19153406	ATC	-	19153404	7	5	31	1	0	1	0	1	0	0	0	0	5248	446	16	0	1157	0	ESCO1	18	19153404	In_Frame_Del	DEL	ATC	TCGA-CH-5765-01A-11D-1576-08		19153404	58923844	39	1560											
CNDP1	84735	broad.mit.edu	37	chr18	72228208	72228208	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	acgtgcagcctgctgaccggGgcgatgggtggctcacggac	6	6	17	12	4	1	1	1	1	0	0	1	3	1	2	2	5	3	3	2	5	0	0			TCGA-CH-5765-01A-11D-1576-08	TCGA-CH-5765-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23762450-360d-4930-b53b-611e0041327a	8994a220-e271-46ea-b68f-28388545c317	g.chr18:72228208G>A	ENST00000358821.3	+	4	649	c.421G>A	c.(421-423)Ggc>Agc	p.G141S	CNDP1_ENST00000585136.1_Intron|RP11-231E4.3_ENST00000583702.1_RNA|CNDP1_ENST00000582365.1_Missense_Mutation_p.G98S	NM_032649.5	NP_116038	Q96KN2	CNDP1_HUMAN	carnosine dipeptidase 1 (metallopeptidase M20 family)	141						extracellular region (GO:0005576)	carboxypeptidase activity (GO:0004180)|dipeptidase activity (GO:0016805)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|tripeptidase activity (GO:0034701)	p.G141S(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27		Esophageal squamous(42;0.129)|Prostate(75;0.157)|Melanoma(33;0.211)		BRCA - Breast invasive adenocarcinoma(31;0.109)		TGCTGACCGGGGCGATGGGTG	0.622																																					Melanoma(32;1029 1042 25286 38395 44237)	ENST00000582365.1																			1	Substitution - Missense(1)	p.G141S(1)	prostate(1)	breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						c.(292-294)Ggc>Agc		carnosine dipeptidase 1 (metallopeptidase M20 family)							88	85	86					18																	72228208		2203	4300	6503	SO:0001583	missense	84735				proteolysis	extracellular region	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity|tripeptidase activity	g.chr18:72228208G>A		CCDS12007.1	18q22.3	2014-07-14			ENSG00000150656	ENSG00000150656	3.4.13.20		20675	protein-coding gene	gene with protein product	"carnosinase 1", "glutamate carboxypeptidase-like protein 2"	609064				12473676	Standard	NM_032649		Approved	MGC10825, CN1, CPGL2, HsT2308	uc002llq.3	Q96KN2	OTTHUMG00000132852	ENST00000358821.3:c.421G>A	18.37:g.72228208G>A	ENSP00000351682:p.Gly141Ser					CNDP1_ENST00000585136.1_Intron|CNDP1_ENST00000358821.3_Missense_Mutation_p.G141S	p.G98S			Q96KN2	CNDP1_HUMAN		BRCA - Breast invasive adenocarcinoma(31;0.109)	3	358	+		Esophageal squamous(42;0.129)|Prostate(75;0.157)|Melanoma(33;0.211)	141					Q14D40|Q17S05|Q2TBG0|Q6UWK2|Q9BT98	Missense_Mutation	SNP	ENST00000358821.3	37	c.292G>A	CCDS12007.1	.	.	.	.	.	.	.	.	.	.	G	7.341	0.620983	0.14193	.	.	ENSG00000150656	ENST00000358821	T	0.48522	0.81	4.78	4.78	0.61160	.	0.245546	0.39909	N	0.001226	T	0.34542	0.0901	L	0.37561	1.115	0.09310	N	1	B	0.09022	0.002	B	0.12837	0.008	T	0.11941	-1.0567	10	0.31617	T	0.26	-0.7162	7.8601	0.29506	0.0871:0.1643:0.7486:0.0	.	141	Q96KN2	CNDP1_HUMAN	S	141	ENSP00000351682:G141S	ENSP00000351682:G141S	G	+	1	0	CNDP1	70379188	0.932000	0.31603	0.013000	0.15412	0.002000	0.02628	4.223000	0.58587	2.203000	0.70933	0.655000	0.94253	GGC		0.622	CNDP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256326.1	NM_032649		87	132	0	0	0	0.870114	0	87	132					A	72228208	G	A	72228208	3	1	31	1	0	0	0	0	1	0	0	0	3593	1232	43	3	435	3	CNDP1	18	72228208	Missense_Mutation	SNP	G	TCGA-CH-5765-01A-11D-1576-08	53074804	72228208	5849040	40	1561											
GPATCH1	55094	broad.mit.edu	37	chr19	33603475	33603475	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acgtttgagtggcaccctgaCaagcttctatgtaagagatt	11	12	10	8	1	1	3	0	2	1	1	1	4	1	3	1	1	1	4	1	1	3	5			TCGA-CH-5765-01A-11D-1576-08	TCGA-CH-5765-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23762450-360d-4930-b53b-611e0041327a	8994a220-e271-46ea-b68f-28388545c317	g.chr19:33603475C>A	ENST00000170564.2	+	13	2162	c.1848C>A	c.(1846-1848)gaC>gaA	p.D616E		NM_018025.2	NP_060495.2	Q9BRR8	GPTC1_HUMAN	G patch domain containing 1	616					mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)	nucleic acid binding (GO:0003676)	p.D616E(1)		breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|prostate(4)|skin(4)	40	Esophageal squamous(110;0.137)					GGCACCCTGACAAGCTTCTAT	0.413																																					Pancreas(67;88 1713 4567 18227)	ENST00000170564.2																			1	Substitution - Missense(1)	p.D616E(1)	prostate(1)	breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|prostate(4)|skin(4)	40						c.(1846-1848)gaC>gaA		G patch domain containing 1							152	136	142					19																	33603475		2203	4300	6503	SO:0001583	missense	55094					catalytic step 2 spliceosome	nucleic acid binding	g.chr19:33603475C>A	AF434677	CCDS12428.1	19q13.12	2013-01-28		2006-12-13		ENSG00000076650		"G patch domain containing"	24658	protein-coding gene	gene with protein product	"evolutionarily conserved G patch domain containing"			GPATC1		12477932	Standard	NM_018025		Approved	ECGP, FLJ10206, FLJ38686	uc002nug.1	Q9BRR8		ENST00000170564.2:c.1848C>A	19.37:g.33603475C>A	ENSP00000170564:p.Asp616Glu						p.D616E	NM_018025.2	NP_060495.2	Q9BRR8	GPTC1_HUMAN			13	2162	+	Esophageal squamous(110;0.137)		616					Q8IZV6|Q8N3B7|Q9NW94	Missense_Mutation	SNP	ENST00000170564.2	37	c.1848C>A	CCDS12428.1	.	.	.	.	.	.	.	.	.	.	C	13.46	2.244556	0.39697	.	.	ENSG00000076650	ENST00000170564	T	0.34859	1.34	5.62	3.41	0.39046	.	0.181326	0.56097	D	0.000025	T	0.18882	0.0453	L	0.33093	0.98	0.80722	D	1	B	0.30542	0.284	B	0.25291	0.059	T	0.05321	-1.0892	10	0.06757	T	0.87	-27.0723	6.2077	0.20612	0.2838:0.5882:0.0:0.1279	.	616	Q9BRR8	GPTC1_HUMAN	E	616	ENSP00000170564:D616E	ENSP00000170564:D616E	D	+	3	2	GPATCH1	38295315	0.992000	0.36948	1.000000	0.80357	0.939000	0.58152	0.234000	0.17930	2.640000	0.89533	0.655000	0.94253	GAC		0.413	GPATCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450834.1	NM_018025		44	85	1	0	7.05121e-23	0.853193	8.7869e-23	44	85					A	33603475	C	A	33603475	3	1	31	1	0	0	0	0	1	0	0	0	6590	477	17	5	1898	5	GPATCH1	19	33603475	Missense_Mutation	SNP	C	TCGA-CH-5765-01A-11D-1576-08		33603475	25525508	41	1562											
ZNF223	7766	broad.mit.edu	37	chr19	44564709	44564709	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tatcgagatgtgatgctggaGaacttcaggaacctgctgtc	10	11	12	8	1	1	3	1	1	0	2	3	6	1	4	1	2	4	2	1	2	3	2			TCGA-CH-5765-01A-11D-1576-08	TCGA-CH-5765-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23762450-360d-4930-b53b-611e0041327a	8994a220-e271-46ea-b68f-28388545c317	g.chr19:44564709G>A	ENST00000434772.3	+	3	372	c.117G>A	c.(115-117)gaG>gaA	p.E39E	ZNF223_ENST00000588518.1_Intron|ZNF223_ENST00000585552.1_Silent_p.E39E|ZNF223_ENST00000591793.1_Silent_p.E149E	NM_013361.4	NP_037493.3	Q9UK11	ZN223_HUMAN	zinc finger protein 223	39	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.E39E(1)		endometrium(3)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	18		Prostate(69;0.0352)				TGATGCTGGAGAACTTCAGGA	0.532																																						ENST00000591793.1																			1	Substitution - coding silent(1)	p.E39E(1)	prostate(1)	endometrium(3)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	18						c.(445-447)gaG>gaA		zinc finger protein 223							230	212	218					19																	44564709		2203	4300	6503	SO:0001819	synonymous_variant	7766				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44564709G>A	AF187989	CCDS12635.1	19q13.2	2013-01-08				ENSG00000178386		"Zinc fingers, C2H2-type", "-"	13016	protein-coding gene	gene with protein product							Standard	XM_006723365		Approved		uc002oyf.1	Q9UK11		ENST00000434772.3:c.117G>A	19.37:g.44564709G>A						ZNF223_ENST00000588518.1_Intron|ZNF223_ENST00000585552.1_Silent_p.E39E|ZNF223_ENST00000434772.3_Silent_p.E39E	p.E149E			Q9UK11	ZN223_HUMAN			5	530	+		Prostate(69;0.0352)	39					Q15736|Q8TBJ3|Q9HCA9	Silent	SNP	ENST00000434772.3	37	c.447G>A	CCDS12635.1																																																																																				0.532	ZNF223-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460469.2			97	191	0	0	0	0.870114	0	97	191					A	44564709	G	A	44564709	2	1	31	1	0	0	0	0	0	0	0	1	17774	933	33	3		3	ZNF223	19	44564709	Silent	SNP	G	TCGA-CH-5765-01A-11D-1576-08	10961234	44564709	14564274	42	1563											
NLRP5	126206	broad.mit.edu	37	chr19	56539873	56539873	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gcatgtcctgtggtccctctAtggtgagtaccccaggcagt	6	11	12	12	0	1	1	0	1	1	0	3	1	3	1	4	3	1	3	4	3	2	2			TCGA-CH-5765-01A-11D-1576-08	TCGA-CH-5765-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23762450-360d-4930-b53b-611e0041327a	8994a220-e271-46ea-b68f-28388545c317	g.chr19:56539873A>G	ENST00000390649.3	+	7	2274	c.2274A>G	c.(2272-2274)ctA>ctG	p.L758L		NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN	NLR family, pyrin domain containing 5	758					cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|embryo implantation (GO:0007566)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|neuron death (GO:0070997)|organ morphogenesis (GO:0009887)|regulation of protein stability (GO:0031647)|regulation of RNA stability (GO:0043487)	apical cortex (GO:0045179)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|protein complex (GO:0043234)	ATP binding (GO:0005524)	p.L758L(2)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		TGGTCCCTCTATGGTGAGTAC	0.527																																						ENST00000390649.3																			2	Substitution - coding silent(2)	p.L758L(2)	prostate(1)|lung(1)	breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25						c.(2272-2274)ctA>ctG		NLR family, pyrin domain containing 5							127	127	127					19																	56539873		2008	4186	6194	SO:0001819	synonymous_variant	126206					mitochondrion|nucleolus	ATP binding	g.chr19:56539873A>G	AY154460	CCDS12938.1	19q13.43	2008-10-30	2006-12-08	2006-12-08	ENSG00000171487	ENSG00000171487		"Nucleotide-binding domain and leucine rich repeat containing"	21269	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 5"	609658	"NACHT, leucine rich repeat and PYD containing 5"	NALP5		12563287, 11925379	Standard	NM_153447		Approved	PYPAF8, MATER, PAN11, CLR19.8	uc002qmj.3	P59047	OTTHUMG00000149887	ENST00000390649.3:c.2274A>G	19.37:g.56539873A>G							p.L758L	NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN		GBM - Glioblastoma multiforme(193;0.0326)	7	2274	+		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)	758					A8MTY4|Q86W29	Silent	SNP	ENST00000390649.3	37	c.2274A>G	CCDS12938.1																																																																																				0.527	NLRP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313735.1	NM_153447		8	346	0	0	0	0.335167	0	8	346					G	56539873	A	G	56539873	2	3	31	1	0	0	0	0	0	0	0	1	10480	436	16	4		4	NLRP5	19	56539873	Silent	SNP	A	TCGA-CH-5765-01A-11D-1576-08	11975164	56539873	2589110	43	1564											
ANKRD5	63926	broad.mit.edu	37	chr20	10026343	10026343	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctgtaaatatatagctcagcGaggtaaaattgtctagcaat	15	12	8	6	1	2	0	1	0	1	0	2	1	2	0	0	1	3	4	0	1	9	7			TCGA-CH-5765-01A-11D-1576-08	TCGA-CH-5765-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23762450-360d-4930-b53b-611e0041327a	8994a220-e271-46ea-b68f-28388545c317	g.chr20:10026343G>A	ENST00000378380.3	+	5	1147	c.818G>A	c.(817-819)cGa>cAa	p.R273Q	SNAP25-AS1_ENST00000603542.1_RNA|SNAP25-AS1_ENST00000421143.2_RNA|ANKEF1_ENST00000488991.1_3'UTR|ANKEF1_ENST00000378392.1_Missense_Mutation_p.R273Q	NM_198798.1	NP_942093.1	Q9NU02	ANKE1_HUMAN	ankyrin repeat and EF-hand domain containing 1	273							calcium ion binding (GO:0005509)	p.R273Q(1)									ATAGCTCAGCGAGGTAAAATT	0.408																																						ENST00000378380.3																			1	Substitution - Missense(1)	p.R273Q(1)	prostate(1)								c.(817-819)cGa>cAa		ankyrin repeat and EF-hand domain containing 1							84	83	83					20																	10026343		2203	4300	6503	SO:0001583	missense	63926							g.chr20:10026343G>A	AK025322	CCDS13108.1	20p12.2	2013-01-11	2013-01-11	2013-01-11	ENSG00000132623	ENSG00000132623		"EF-hand domain containing", "Ankyrin repeat domain containing"	15803	protein-coding gene	gene with protein product			"ankyrin repeat domain 5"	ANKRD5		17142250	Standard	NM_022096		Approved	FLJ21669, dJ839B4.6	uc002wnp.3	Q9NU02	OTTHUMG00000031860	ENST00000378380.3:c.818G>A	20.37:g.10026343G>A	ENSP00000367631:p.Arg273Gln					SNAP25-AS1_ENST00000421143.2_RNA|ANKEF1_ENST00000488991.1_3'UTR|ANKEF1_ENST00000378392.1_Missense_Mutation_p.R273Q|SNAP25-AS1_ENST00000603542.1_RNA	p.R273Q	NM_198798.1	NP_942093.1					5	1147	+								B3KUQ0|Q9H6Y9	Missense_Mutation	SNP	ENST00000378380.3	37	c.818G>A	CCDS13108.1	.	.	.	.	.	.	.	.	.	.	G	34	5.352161	0.95830	.	.	ENSG00000132623	ENST00000378392;ENST00000378380	T;T	0.64618	-0.11;-0.11	5.97	5.97	0.96955	Ankyrin repeat-containing domain (4);	0.000000	0.85682	D	0.000000	T	0.75228	0.3821	L	0.56340	1.77	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.66118	-0.6003	10	0.13108	T	0.6	-13.4612	20.4209	0.99038	0.0:0.0:1.0:0.0	.	273	Q9NU02	ANKR5_HUMAN	Q	273	ENSP00000367644:R273Q;ENSP00000367631:R273Q	ENSP00000367631:R273Q	R	+	2	0	ANKRD5	9974343	1.000000	0.71417	1.000000	0.80357	0.907000	0.53573	8.446000	0.90329	2.823000	0.97156	0.591000	0.81541	CGA		0.408	ANKEF1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077968.2	NM_022096		31	77	0	0	0	0.750413	0	31	77					A	10026343	G	A	10026343	3	1	31	1	0	0	0	0	1	0	0	0	676	1058	37	2	832	2	ANKRD5	20	10026343	Missense_Mutation	SNP	G	TCGA-CH-5765-01A-11D-1576-08		10026343	52999177	44	1565											
CHD6	84181	broad.mit.edu	37	chr20	40162157	40162157	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atggagatttgtagtcaaaaTtgacagaggcatcagacatt	15	11	10	5	0	2	4	2	1	0	3	2	5	2	4	0	2	0	2	0	2	3	4			TCGA-CH-5765-01A-11D-1576-08	TCGA-CH-5765-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23762450-360d-4930-b53b-611e0041327a	8994a220-e271-46ea-b68f-28388545c317	g.chr20:40162157T>C	ENST00000373233.3	-	3	263	c.86A>G	c.(85-87)aAt>aGt	p.N29S	CHD6_ENST00000309279.7_Missense_Mutation_p.N29S|CHD6_ENST00000373222.3_Missense_Mutation_p.N64S	NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	29	Required for DNA-dependent ATPase activity.				ATP catabolic process (GO:0006200)|chromatin modification (GO:0016568)|positive regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0036091)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|transcription cofactor binding (GO:0001221)	p.N29S(1)		breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				GTAGTCAAAATTGACAGAGGC	0.388																																						ENST00000373233.3																			1	Substitution - Missense(1)	p.N29S(1)	prostate(1)	breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129						c.(85-87)aAt>aGt		chromodomain helicase DNA binding protein 6							59	59	59					20																	40162157		2203	4300	6503	SO:0001583	missense	0				chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding	g.chr20:40162157T>C	AF525085	CCDS13317.1	20q12	2003-03-07			ENSG00000124177	ENSG00000124177			19057	protein-coding gene	gene with protein product						11889561	Standard	NM_032221		Approved	KIAA1335, FLJ22369, dJ620E11.1, CHD5, RIGB	uc002xka.1	Q8TD26	OTTHUMG00000032487	ENST00000373233.3:c.86A>G	20.37:g.40162157T>C	ENSP00000362330:p.Asn29Ser					CHD6_ENST00000373222.3_Missense_Mutation_p.N64S|CHD6_ENST00000309279.7_Missense_Mutation_p.N29S	p.N29S	NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN			3	263	-		Myeloproliferative disorder(115;0.00425)	29					Q5JYQ0|Q5TGZ9|Q5TH00|Q5TH01|Q8IZR2|Q8WTY0|Q9H4H6|Q9H6D4|Q9NTT7|Q9P2L1	Missense_Mutation	SNP	ENST00000373233.3	37	c.86A>G	CCDS13317.1	.	.	.	.	.	.	.	.	.	.	T	11.93	1.784554	0.31593	.	.	ENSG00000124177	ENST00000373233;ENST00000309279;ENST00000373222;ENST00000440647	D;D;T	0.94457	-1.93;-3.43;-1.28	5.9	3.62	0.41486	.	0.299907	0.28927	N	0.013687	D	0.86802	0.6020	N	0.19112	0.55	0.28316	N	0.922455	B;B	0.29988	0.264;0.009	B;B	0.28011	0.085;0.006	T	0.74166	-0.3753	10	0.06757	T	0.87	-16.3239	12.3986	0.55399	0.0:0.0:0.5539:0.446	.	64;29	Q8TD26-2;Q8TD26	.;CHD6_HUMAN	S	29;29;64;29	ENSP00000362330:N29S;ENSP00000308684:N29S;ENSP00000362319:N64S	ENSP00000308684:N29S	N	-	2	0	CHD6	39595571	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	0.810000	0.27183	1.035000	0.39972	0.533000	0.62120	AAT		0.388	CHD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079270.1			80	101	0	0	0	0.870114	0	80	101					C	40162157	T	C	40162157	3	2	31	1	0	0	0	0	1	0	0	0	3329	1493	52	4	8201	4	CHD6	20	40162157	Missense_Mutation	SNP	T	TCGA-CH-5765-01A-11D-1576-08	30135814	40162157	22863363	45	1566											
TCEB3	6924	broad.mit.edu	37	chr1	24083516	24083516	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcagctttaaccccagccctGaggagccggcctatgatggc	8	8	11	14	1	1	2	1	2	0	0	1	3	1	3	5	3	4	1	5	3	2	3			TCGA-CH-5766-01A-11D-1576-08	TCGA-CH-5766-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4a89263-a535-44dc-b2d4-86405c5a3191	8190fde9-3acf-40d4-90c8-2344c571c55e	g.chr1:24083516G>T	ENST00000418390.2	+	10	2507	c.2236G>T	c.(2236-2238)Gag>Tag	p.E746*	TCEB3_ENST00000609199.1_Nonsense_Mutation_p.E720*	NM_003198.2	NP_003189.2	Q14241	ELOA1_HUMAN	transcription elongation factor B (SIII), polypeptide 3 (110kDa, elongin A)	746					gene expression (GO:0010467)|positive regulation of viral transcription (GO:0050434)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	19		Colorectal(325;3.46e-05)|Lung NSC(340;0.000112)|all_lung(284;0.00016)|Renal(390;0.000219)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;2.42e-24)|Colorectal(126;5.5e-08)|COAD - Colon adenocarcinoma(152;3.09e-06)|GBM - Glioblastoma multiforme(114;4.74e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000973)|KIRC - Kidney renal clear cell carcinoma(1967;0.00334)|STAD - Stomach adenocarcinoma(196;0.0127)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.187)		CCCCAGCCCTGAGGAGCCGGC	0.577																																						ENST00000418390.2																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	19						c.(2236-2238)Gag>Tag		transcription elongation factor B (SIII), polypeptide 3 (110kDa, elongin A)							136	134	135					1																	24083516		2203	4300	6503	SO:0001587	stop_gained	6924				positive regulation of viral transcription|regulation of transcription from RNA polymerase II promoter|transcription elongation from RNA polymerase II promoter|viral reproduction	integral to membrane	DNA binding	g.chr1:24083516G>T	L47345	CCDS239.2	1p36.1	2010-06-22	2002-08-29		ENSG00000011007	ENSG00000011007			11620	protein-coding gene	gene with protein product		600786	"transcription elongation factor B (SIII), polypeptide 3 (110kD, elongin A)"			8586449, 7660129	Standard	NM_003198		Approved	SIII, TCEB3A	uc001bho.3	Q14241	OTTHUMG00000002957	ENST00000418390.2:c.2236G>T	1.37:g.24083516G>T	ENSP00000395574:p.Glu746*						p.E746*	NM_003198.2	NP_003189.2	Q14241	ELOA1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;2.42e-24)|Colorectal(126;5.5e-08)|COAD - Colon adenocarcinoma(152;3.09e-06)|GBM - Glioblastoma multiforme(114;4.74e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000973)|KIRC - Kidney renal clear cell carcinoma(1967;0.00334)|STAD - Stomach adenocarcinoma(196;0.0127)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.187)	10	2507	+		Colorectal(325;3.46e-05)|Lung NSC(340;0.000112)|all_lung(284;0.00016)|Renal(390;0.000219)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)	746					B2R7Q8|Q8IXH1	Nonsense_Mutation	SNP	ENST00000418390.2	37	c.2236G>T	CCDS239.2	.	.	.	.	.	.	.	.	.	.	G	39	7.576562	0.98368	.	.	ENSG00000011007	ENST00000418390	.	.	.	5.41	3.51	0.40186	.	0.309563	0.27654	N	0.018415	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	-16.8099	10.808	0.46529	0.1338:0.0:0.8662:0.0	.	.	.	.	X	746	.	ENSP00000395574:E746X	E	+	1	0	TCEB3	23956103	0.945000	0.32115	0.935000	0.37517	0.578000	0.36192	1.922000	0.40045	2.537000	0.85549	0.462000	0.41574	GAG		0.577	TCEB3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000008230.2	NM_003198		11	205	1	0	1.3612e-06	0.479597	1.60142e-06	11	205					T	24083516	G	T	24083516	4	4	32	1	0	0	0	0	0	1	0	0	15678	1291	45	5	2274	5	TCEB3	1	24083516	Nonsense_Mutation	SNP	G	TCGA-CH-5766-01A-11D-1576-08		24083516	225167105	1	1567											
CSMD2	114784	broad.mit.edu	37	chr1	34102104	34102104	+	De_novo_Start_OutOfFrame	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttcaggtcggaccccacccGtgtgccgttcttgatggaac	6	10	11	14	3	2	1	1	1	1	0	3	3	2	3	4	3	2	1	4	3	1	3			TCGA-CH-5766-01A-11D-1576-08	TCGA-CH-5766-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4a89263-a535-44dc-b2d4-86405c5a3191	8190fde9-3acf-40d4-90c8-2344c571c55e	g.chr1:34102104G>A	ENST00000373388.2	-	0	1664				CSMD2_ENST00000373380.1_Missense_Mutation_p.R482W|CSMD2_ENST00000373381.4_Missense_Mutation_p.R1609W			Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2							integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.R1569W(1)		NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				GACCCCACCCGTGTGCCGTTC	0.582																																						ENST00000373388.2																			1	Substitution - Missense(1)	p.R1569W(1)	prostate(1)	NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246								CUB and Sushi multiple domains 2							68	61	64					1																	34102104		2203	4300	6503			114784					integral to membrane|plasma membrane	protein binding	g.chr1:34102104G>A	AY210418	CCDS380.1, CCDS60082.1	1p34.3	2014-01-28			ENSG00000121904	ENSG00000121904			19290	protein-coding gene	gene with protein product		608398				11472063, 11572484	Standard	NM_001281956		Approved	KIAA1884	uc001bxn.1	Q7Z408	OTTHUMG00000011135	ENST00000373388.2:c.-879C>T	1.37:g.34102104G>A						CSMD2_ENST00000373381.4_Missense_Mutation_p.R1609W|CSMD2_ENST00000373380.1_Missense_Mutation_p.R482W				Q7Z408	CSMD2_HUMAN			0	1664	-		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)						B1AM50|E7EUA6|Q53TY4|Q5VT59|Q8N963|Q96Q03|Q9H4V7|Q9H4V8|Q9H4V9|Q9H4W0|Q9H4W1|Q9H4W2|Q9H4W3|Q9H4W4|Q9HCY5|Q9HCY6|Q9HCY7	Translation_Start_Site	SNP	ENST00000373388.2	37			.	.	.	.	.	.	.	.	.	.	G	14.96	2.690892	0.48097	.	.	ENSG00000121904	ENST00000373381;ENST00000373380	T;T	0.65364	-0.15;-0.15	5.86	3.99	0.46301	Complement control module (2);Sushi/SCR/CCP (3);	0.000000	0.64402	D	0.000001	T	0.79828	0.4513	M	0.83384	2.64	0.80722	D	1	D;D;D	0.89917	0.997;1.0;1.0	P;D;D	0.91635	0.858;0.998;0.999	T	0.81797	-0.0768	10	0.56958	D	0.05	.	14.3491	0.66688	0.0:0.0:0.5009:0.4991	.	482;1569;1609	Q7Z408-2;Q7Z408;E7EUA6	.;CSMD2_HUMAN;.	W	1609;482	ENSP00000362479:R1609W;ENSP00000362478:R482W	ENSP00000241312:R1569W	R	-	1	2	CSMD2	33874691	1.000000	0.71417	0.734000	0.30879	0.047000	0.14425	4.684000	0.61686	0.824000	0.34613	-0.336000	0.08194	CGG		0.582	CSMD2-202	KNOWN	basic	protein_coding	protein_coding		NM_052896		8	80	0	0	0	0.307466	0	8	80					A	34102104	G	A	34102104	1	1	32	1	0	1	0	0	0	0	0	0	3945	1144	40	1		1	CSMD2	1	34102104	De_novo_Start_OutOfFrame	SNP	G	TCGA-CH-5766-01A-11D-1576-08	10018588	34102104	215148517	2	1568											
GJB4	127534	broad.mit.edu	37	chr1	35227163	35227163	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctaccgcgaggaacgcgagcGcaagcaccacctgaaacacg	13	2	11	15	6	0	1	0	1	0	0	0	4	0	2	3	1	5	2	3	1	4	1	rs371995549		TCGA-CH-5766-01A-11D-1576-08	TCGA-CH-5766-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4a89263-a535-44dc-b2d4-86405c5a3191	8190fde9-3acf-40d4-90c8-2344c571c55e	g.chr1:35227163G>A	ENST00000339480.1	+	2	678	c.308G>A	c.(307-309)cGc>cAc	p.R103H	RP1-34M23.5_ENST00000542839.1_RNA	NM_153212.2	NP_694944.1	Q9NTQ9	CXB4_HUMAN	gap junction protein, beta 4, 30.3kDa	103			R -> C (may be associated with deafness; dbSNP:rs9426009). {ECO:0000269|PubMed:11933201}.		cell communication (GO:0007154)|olfactory behavior (GO:0042048)|sensory perception of smell (GO:0007608)	connexon complex (GO:0005922)|integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|skin(1)	16		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.234)				GAACGCGAGCGCAAGCACCAC	0.647													g|||	1	0.000199681	0	0	5008	,	,		20950	0		0.001	False		,,,				2504	0					ENST00000339480.1																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|skin(1)	16						c.(307-309)cGc>cAc		gap junction protein, beta 4, 30.3kDa		A	HIS/ARG	0,4406		0,0,2203	87	64	72		308	1.8	0.2	1	dbSNP_134	72	1,8599	1.2+/-3.3	0,1,4299	no	missense	GJB4	NM_153212.2	29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	103/267	35227163	1,13005	2203	4300	6503	SO:0001583	missense	127534				cell communication	connexon complex|integral to membrane	gap junction channel activity	g.chr1:35227163G>A		CCDS383.1	1p35-p34	2008-05-14	2007-11-06		ENSG00000189433	ENSG00000189433		"Ion channels / Gap junction proteins (connexins)"	4286	protein-coding gene	gene with protein product	"connexin 30.3"	605425	"gap junction protein, beta 4 (connexin 30.3)", "gap junction protein, beta 4"				Standard	NM_153212		Approved	CX30.3	uc001bxv.1	Q9NTQ9	OTTHUMG00000004052	ENST00000339480.1:c.308G>A	1.37:g.35227163G>A	ENSP00000345868:p.Arg103His					RP1-34M23.5_ENST00000542839.1_RNA	p.R103H	NM_153212.2	NP_694944.1	Q9NTQ9	CXB4_HUMAN			2	678	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.234)	103		R -> C (may be associated with deafness; dbSNP:rs9426009).			B3KQ82	Missense_Mutation	SNP	ENST00000339480.1	37	c.308G>A	CCDS383.1	.	.	.	.	.	.	.	.	.	.	g	13.76	2.332499	0.41297	0.0	1.16E-4	ENSG00000189433	ENST00000339480	D	0.99113	-5.44	5.73	1.8	0.24995	Connexin, N-terminal (1);	0.146210	0.46442	N	0.000287	D	0.98673	0.9555	M	0.78049	2.395	0.23889	N	0.996557	D	0.62365	0.991	P	0.60012	0.867	D	0.95865	0.8886	10	0.72032	D	0.01	.	6.6012	0.22701	0.2692:0.1196:0.6112:0.0	.	103	Q9NTQ9	CXB4_HUMAN	H	103	ENSP00000345868:R103H	ENSP00000345868:R103H	R	+	2	0	GJB4	34999750	0.003000	0.15002	0.185000	0.23176	0.035000	0.12851	1.025000	0.30090	0.094000	0.17404	-0.119000	0.15052	CGC		0.647	GJB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011560.1	NM_153212		4	72	0	0	0	0.184627	0	4	72					A	35227163	G	A	35227163	3	1	32	1	0	0	0	0	1	0	0	0	6410	1087	38	1	310	1	GJB4	1	35227163	Missense_Mutation	SNP	G	TCGA-CH-5766-01A-11D-1576-08	1125059	35227163	214023458	3	1569											
NFYC	4802	broad.mit.edu	37	chr1	41218877	41218877	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atcagtttgattttctcatcGatattgttccaagagatgaa	12	16	7	6	1	2	3	2	2	1	1	5	5	3	3	1	0	0	2	1	0	3	6			TCGA-CH-5766-01A-11D-1576-08	TCGA-CH-5766-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4a89263-a535-44dc-b2d4-86405c5a3191	8190fde9-3acf-40d4-90c8-2344c571c55e	g.chr1:41218877G>A	ENST00000308733.5	+	4	352	c.346G>A	c.(346-348)Gat>Aat	p.D116N	NFYC_ENST00000372652.1_Missense_Mutation_p.D116N|NFYC_ENST00000447388.3_Missense_Mutation_p.D116N|NFYC_ENST00000372653.1_Missense_Mutation_p.D116N|NFYC_ENST00000456393.2_Missense_Mutation_p.D116N|NFYC_ENST00000425457.2_Missense_Mutation_p.D116N|NFYC_ENST00000427410.2_Missense_Mutation_p.D78N|NFYC_ENST00000372651.1_Missense_Mutation_p.D116N|NFYC_ENST00000372654.1_Missense_Mutation_p.D116N|MIR30E_ENST00000362104.1_RNA|NFYC_ENST00000440226.3_Missense_Mutation_p.D116N			Q13952	NFYC_HUMAN	nuclear transcription factor Y, gamma	116					cellular lipid metabolic process (GO:0044255)|positive regulation of transcription, DNA-templated (GO:0045893)|protein folding (GO:0006457)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	CCAAT-binding factor complex (GO:0016602)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)	p.D116N(1)		NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(3)|lung(1)|prostate(1)|skin(2)	15	Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.72e-17)			TTTTCTCATCGATATTGTTCC	0.423																																						ENST00000372652.1																			1	Substitution - Missense(1)	p.D116N(1)	prostate(1)	NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(3)|lung(1)|prostate(1)|skin(2)	15						c.(346-348)Gat>Aat		nuclear transcription factor Y, gamma							113	100	104					1																	41218877		2203	4300	6503	SO:0001583	missense	4802				protein folding|regulation of transcription from RNA polymerase II promoter	CCAAT-binding factor complex	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chr1:41218877G>A	U78774	CCDS455.1, CCDS44120.1, CCDS44121.1, CCDS44122.1, CCDS44123.1	1p32	2008-11-11			ENSG00000066136	ENSG00000066136			7806	protein-coding gene	gene with protein product		605344				8921405, 9249075	Standard	NM_014223		Approved	CBF-C, NF-YC	uc009vwd.3	Q13952	OTTHUMG00000007729	ENST00000308733.5:c.346G>A	1.37:g.41218877G>A	ENSP00000312617:p.Asp116Asn					NFYC_ENST00000372654.1_Missense_Mutation_p.D116N|NFYC_ENST00000427410.2_Missense_Mutation_p.D78N|NFYC_ENST00000308733.5_Missense_Mutation_p.D116N|NFYC_ENST00000372653.1_Missense_Mutation_p.D116N|NFYC_ENST00000447388.3_Missense_Mutation_p.D116N|NFYC_ENST00000425457.2_Missense_Mutation_p.D116N|NFYC_ENST00000456393.2_Missense_Mutation_p.D116N|NFYC_ENST00000372651.1_Missense_Mutation_p.D116N|NFYC_ENST00000440226.3_Missense_Mutation_p.D116N	p.D116N			Q13952	NFYC_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;1.72e-17)		5	614	+	Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	116					B4DUS6|B4DW63|D3DPV9|F8VWM3|Q59GY4|Q5T6K8|Q5T6K9|Q5T6L1|Q5TZR6|Q92869|Q9HBX1|Q9NXB5|Q9UM67|Q9UML0|Q9UMT7	Missense_Mutation	SNP	ENST00000308733.5	37	c.346G>A		.	.	.	.	.	.	.	.	.	.	G	32	5.119023	0.94385	.	.	ENSG00000066136	ENST00000427410;ENST00000447388;ENST00000425457;ENST00000453631;ENST00000456393;ENST00000372658;ENST00000372655;ENST00000372654;ENST00000372653;ENST00000372669;ENST00000372652;ENST00000372651;ENST00000440226;ENST00000525290;ENST00000530965;ENST00000308733	T;T;T;T;T;T;T;T;T;T;T;T;T	0.67171	-0.25;-0.25;-0.25;0.15;-0.25;-0.25;-0.25;-0.25;-0.25;-0.25;-0.25;0.03;-0.25	6.08	6.08	0.98989	Histone-fold (1);	0.000000	0.85682	D	0.000000	D	0.83644	0.5299	M	0.84219	2.685	0.80722	D	1	D;D;D;D;D;D;D	0.89917	0.999;1.0;0.999;0.999;0.999;0.999;1.0	D;D;D;D;D;D;D	0.80764	0.982;0.99;0.959;0.994;0.982;0.982;0.993	D	0.84390	0.0554	10	0.62326	D	0.03	.	18.1573	0.89696	0.0:0.0:1.0:0.0	.	78;116;116;116;116;116;116	B4DW63;Q13952;Q5T6K9;Q13952-3;F8VWM3;Q13952-2;B4DUS6	.;NFYC_HUMAN;.;.;.;.;.	N	78;116;116;116;116;14;14;116;116;116;116;116;116;116;92;116	ENSP00000408315:D78N;ENSP00000404427:D116N;ENSP00000396620:D116N;ENSP00000397647:D116N;ENSP00000408867:D116N;ENSP00000361738:D116N;ENSP00000361737:D116N;ENSP00000361754:D116N;ENSP00000361736:D116N;ENSP00000361734:D116N;ENSP00000414299:D116N;ENSP00000436710:D116N;ENSP00000312617:D116N	ENSP00000312617:D116N	D	+	1	0	NFYC	40991464	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.170000	0.94795	2.894000	0.99253	0.655000	0.94253	GAT		0.423	NFYC-007	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000020802.1	NM_014223		19	69	0	0	0	0.539581	0	19	69					A	41218877	G	A	41218877	3	1	32	1	0	0	0	0	1	0	0	0	10391	1058	37	2	360	2	NFYC	1	41218877	Missense_Mutation	SNP	G	TCGA-CH-5766-01A-11D-1576-08	5991714	41218877	208031744	4	1570											
TMEM167B	56900	broad.mit.edu	37	chr1	109637041	109637041	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctctcttttgcctgctagccGctgtgattggaaccaggctg	5	13	11	12	1	1	1	0	1	1	0	2	2	1	2	3	2	4	3	3	2	2	4			TCGA-CH-5766-01A-11D-1576-08	TCGA-CH-5766-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4a89263-a535-44dc-b2d4-86405c5a3191	8190fde9-3acf-40d4-90c8-2344c571c55e	g.chr1:109637041G>T	ENST00000338272.8	+	3	1215	c.145G>T	c.(145-147)Gct>Tct	p.A49S		NM_020141.3	NP_064526.1	Q9NRX6	KISHB_HUMAN	transmembrane protein 167B	49						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)		p.A49S(1)		endometrium(1)|kidney(1)|lung(3)|prostate(1)|skin(1)	7						CCTGCTAGCCGCTGTGATTGG	0.448																																						ENST00000338272.7																			1	Substitution - Missense(1)	p.A49S(1)	prostate(1)	endometrium(1)|kidney(1)|lung(3)|prostate(1)|skin(1)	7						c.(145-147)Gct>Tct		transmembrane protein 167B							212	175	188					1																	109637041		2203	4300	6503	SO:0001583	missense	56900					Golgi membrane|integral to membrane		g.chr1:109637041G>T		CCDS30789.1	1p13.3	2008-06-06	2008-06-06	2008-06-06	ENSG00000215717	ENSG00000215717			30187	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 119"	C1orf119		12477932	Standard	NM_020141		Approved	AD-020, FLJ90710	uc001dwn.3	Q9NRX6	OTTHUMG00000042364	ENST00000338272.8:c.145G>T	1.37:g.109637041G>T	ENSP00000342148:p.Ala49Ser						p.A49S	NM_020141.3	NP_064526.1	Q9NRX6	KISHB_HUMAN			3	283	+			49					B2RUU9	Missense_Mutation	SNP	ENST00000338272.8	37	c.145G>T	CCDS30789.1	.	.	.	.	.	.	.	.	.	.	G	16.72	3.202388	0.58234	.	.	ENSG00000215717	ENST00000338272	.	.	.	5.52	5.52	0.82312	.	0.000000	0.53938	U	0.000043	T	0.41994	0.1183	.	.	.	0.50632	D	0.999887	B	0.22746	0.074	B	0.18561	0.022	T	0.33111	-0.9881	8	0.37606	T	0.19	-4.0163	16.9522	0.86248	0.0:0.0:1.0:0.0	.	49	Q9NRX6	KISHB_HUMAN	S	49	.	ENSP00000342148:A49S	A	+	1	0	TMEM167B	109438564	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	8.770000	0.91746	2.581000	0.87130	0.655000	0.94253	GCT		0.448	TMEM167B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000100611.2	NM_020141		16	114	1	0	9.16793e-09	0.520397	1.1226e-08	16	114					T	109637041	G	T	109637041	3	4	32	1	0	0	0	0	1	0	0	0	16079	1087	38	5	155	5	TMEM167B	1	109637041	Missense_Mutation	SNP	G	TCGA-CH-5766-01A-11D-1576-08	68418164	109637041	139613580	5	1571											
KIF26B	55083	broad.mit.edu	37	chr1	245849237	245849237	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gataaggaagataatgggtcCgaaggtcagctgaccaacag	15	6	13	7	1	1	2	1	1	0	1	2	5	2	3	2	3	2	1	2	3	5	2			TCGA-CH-5766-01A-11D-1576-08	TCGA-CH-5766-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4a89263-a535-44dc-b2d4-86405c5a3191	8190fde9-3acf-40d4-90c8-2344c571c55e	g.chr1:245849237C>A	ENST00000407071.2	+	12	3392	c.2952C>A	c.(2950-2952)tcC>tcA	p.S984S	KIF26B_ENST00000366518.4_Silent_p.S603S	NM_018012.3	NP_060482.2	Q2KJY2	KI26B_HUMAN	kinesin family member 26B	984					establishment of cell polarity (GO:0030010)|metabolic process (GO:0008152)|positive regulation of cell-cell adhesion (GO:0022409)|ureteric bud invasion (GO:0072092)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)	p.S984S(2)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		OV - Ovarian serous cystadenocarcinoma(106;0.022)			ATAATGGGTCCGAAGGTCAGC	0.622																																						ENST00000366518.4																			2	Substitution - coding silent(2)	p.S984S(2)	prostate(2)	breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51						c.(1807-1809)tcC>tcA		kinesin family member 26B							21	29	26					1																	245849237		2029	4180	6209	SO:0001819	synonymous_variant	55083				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr1:245849237C>A	AK001019	CCDS44342.1	1q44	2008-02-05			ENSG00000162849	ENSG00000162849		"Kinesins"	25484	protein-coding gene	gene with protein product		614026					Standard	NM_018012		Approved	FLJ10157	uc001ibf.1	Q2KJY2	OTTHUMG00000040079	ENST00000407071.2:c.2952C>A	1.37:g.245849237C>A						KIF26B_ENST00000407071.2_Silent_p.S984S	p.S603S			Q2KJY2	KI26B_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.022)		9	1913	+	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		984			Kinesin-motor.		Q6ZQR9|Q6ZUZ0|Q8IUN3|Q8IVR1|Q9NWB4	Silent	SNP	ENST00000407071.2	37	c.1809C>A	CCDS44342.1																																																																																				0.622	KIF26B-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381037.1	XM_371354		4	25	1	0	0.150653	0.150653	0.164349	4	25					A	245849237	C	A	245849237	2	1	32	1	0	0	0	0	0	0	0	1	8295	639	23	5		5	KIF26B	1	245849237	Silent	SNP	C	TCGA-CH-5766-01A-11D-1576-08	136212196	245849237	3401384	6	1572											
CTNNA2	1496	broad.mit.edu	37	chr2	80874842	80874842	+	Missense_Mutation	SNP	G	G	C																															cagcagctgtcaactcacctGttgtgtcttggaagatgaag																										TCGA-CH-5766-01A-11D-1576-08	TCGA-CH-5766-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4a89263-a535-44dc-b2d4-86405c5a3191	8190fde9-3acf-40d4-90c8-2344c571c55e	g.chr2:80874842G>C	ENST00000402739.4	+	18	2712	c.2707G>C	c.(2707-2709)Gtt>Ctt	p.V903L	CTNNA2_ENST00000343114.3_Missense_Mutation_p.V534L|CTNNA2_ENST00000466387.1_Missense_Mutation_p.V855L|CTNNA2_ENST00000361291.4_Missense_Mutation_p.V889L|CTNNA2_ENST00000496558.1_Missense_Mutation_p.V855L|CTNNA2_ENST00000541047.1_Missense_Mutation_p.V855L|CTNNA2_ENST00000540488.1_Missense_Mutation_p.V810L	NM_001282597.1	NP_001269526.1	P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	903					axonogenesis (GO:0007409)|brain morphogenesis (GO:0048854)|dendrite morphogenesis (GO:0048813)|muscle cell differentiation (GO:0042692)|positive regulation of muscle cell differentiation (GO:0051149)|prepulse inhibition (GO:0060134)|radial glia guided migration of Purkinje cell (GO:0021942)|regulation of synapse structural plasticity (GO:0051823)|single organismal cell-cell adhesion (GO:0016337)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|axon (GO:0030424)|basolateral plasma membrane (GO:0016323)|cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lamellipodium (GO:0030027)	structural constituent of cytoskeleton (GO:0005200)			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						CAACTCACCTGTTGTGTCTTG	0.473																																						ENST00000466387.1																			0				breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						c.(2563-2565)Gtt>Ctt		catenin (cadherin-associated protein), alpha 2							162	163	162					2																	80874842		1932	4151	6083	SO:0001583	missense	1496				axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton	g.chr2:80874842G>C		CCDS42703.2, CCDS62944.1, CCDS62945.1, CCDS74531.1	2p12-p11.1	2010-05-04			ENSG00000066032	ENSG00000066032			2510	protein-coding gene	gene with protein product	"cadherin-associated protein, related", "cancer/testis antigen 114"	114025				8432524	Standard	NM_004389		Approved	CAP-R, CT114	uc010ysf.2	P26232	OTTHUMG00000152903	ENST00000402739.4:c.2707G>C	2.37:g.80874842G>C	ENSP00000384638:p.Val903Leu					CTNNA2_ENST00000361291.4_Missense_Mutation_p.V889L|CTNNA2_ENST00000541047.1_Missense_Mutation_p.V855L|CTNNA2_ENST00000540488.1_Missense_Mutation_p.V810L|CTNNA2_ENST00000496558.1_Missense_Mutation_p.V855L|CTNNA2_ENST00000343114.3_Missense_Mutation_p.V534L|CTNNA2_ENST00000402739.4_Missense_Mutation_p.V903L	p.V855L			P26232	CTNA2_HUMAN			22	3287	+			903					B3KXE5|B7Z2W7|B7Z352|B7Z898|Q4ZFW1|Q53R26|Q53R33|Q53T67|Q53T71|Q53TM8|Q7Z3L1|Q7Z3Y0	Missense_Mutation	SNP	ENST00000402739.4	37	c.2563G>C		.	.	.	.	.	.	.	.	.	.	G	15.14	2.745957	0.49151	.	.	ENSG00000066032	ENST00000466387;ENST00000496558;ENST00000361291;ENST00000402739;ENST00000541047;ENST00000540488;ENST00000343114	T;T;T;T;T;T;T	0.37058	1.22;1.22;1.22;1.22;1.22;1.22;1.22	5.94	5.94	0.96194	.	0.160642	0.41605	D	0.000851	T	0.33352	0.0860	L	0.35854	1.095	0.53005	D	0.999963	B;B;B;B	0.13145	0.001;0.003;0.007;0.007	B;B;B;B	0.17979	0.005;0.01;0.013;0.02	T	0.07158	-1.0787	9	.	.	.	.	20.3658	0.98878	0.0:0.0:1.0:0.0	.	487;903;810;855	F6KRI5;P26232;P26232-3;P26232-2	.;CTNA2_HUMAN;.;.	L	855;855;889;903;855;810;534	ENSP00000418191:V855L;ENSP00000419295:V855L;ENSP00000355398:V889L;ENSP00000384638:V903L;ENSP00000444675:V855L;ENSP00000441705:V810L;ENSP00000341500:V534L	.	V	+	1	0	CTNNA2	80728353	1.000000	0.71417	0.997000	0.53966	0.999000	0.98932	9.869000	0.99810	2.820000	0.97059	0.650000	0.86243	GTT		0.473	CTNNA2-003	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000328511.4	NM_004389		6	277	0	0	0	0.217242	0	6	277					C	80874842	G	C	80874842	3	2	32	1	0	0	0	0	1	0	0	0	4013	1377	48	5	2421	5	CTNNA2	2	80874842	Missense_Mutation	SNP	G	TCGA-CH-5766-01A-11D-1576-08		80874842	162324531	7	1573	12	2									
CTNNA2	1496	broad.mit.edu	37	chr2	80874843	80874843	+	Missense_Mutation	SNP	T	T	A																															agcagctgtcaactcacctgTtgtgtcttggaagatgaagg																										TCGA-CH-5766-01A-11D-1576-08	TCGA-CH-5766-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4a89263-a535-44dc-b2d4-86405c5a3191	8190fde9-3acf-40d4-90c8-2344c571c55e	g.chr2:80874843T>A	ENST00000402739.4	+	18	2713	c.2708T>A	c.(2707-2709)gTt>gAt	p.V903D	CTNNA2_ENST00000343114.3_Missense_Mutation_p.V534D|CTNNA2_ENST00000466387.1_Missense_Mutation_p.V855D|CTNNA2_ENST00000361291.4_Missense_Mutation_p.V889D|CTNNA2_ENST00000496558.1_Missense_Mutation_p.V855D|CTNNA2_ENST00000541047.1_Missense_Mutation_p.V855D|CTNNA2_ENST00000540488.1_Missense_Mutation_p.V810D	NM_001282597.1	NP_001269526.1	P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	903					axonogenesis (GO:0007409)|brain morphogenesis (GO:0048854)|dendrite morphogenesis (GO:0048813)|muscle cell differentiation (GO:0042692)|positive regulation of muscle cell differentiation (GO:0051149)|prepulse inhibition (GO:0060134)|radial glia guided migration of Purkinje cell (GO:0021942)|regulation of synapse structural plasticity (GO:0051823)|single organismal cell-cell adhesion (GO:0016337)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|axon (GO:0030424)|basolateral plasma membrane (GO:0016323)|cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lamellipodium (GO:0030027)	structural constituent of cytoskeleton (GO:0005200)			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						AACTCACCTGTTGTGTCTTGG	0.473																																						ENST00000466387.1																			0				breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						c.(2563-2565)gTt>gAt		catenin (cadherin-associated protein), alpha 2							162	162	162					2																	80874843		1931	4151	6082	SO:0001583	missense	1496				axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton	g.chr2:80874843T>A		CCDS42703.2, CCDS62944.1, CCDS62945.1, CCDS74531.1	2p12-p11.1	2010-05-04			ENSG00000066032	ENSG00000066032			2510	protein-coding gene	gene with protein product	"cadherin-associated protein, related", "cancer/testis antigen 114"	114025				8432524	Standard	NM_004389		Approved	CAP-R, CT114	uc010ysf.2	P26232	OTTHUMG00000152903	ENST00000402739.4:c.2708T>A	2.37:g.80874843T>A	ENSP00000384638:p.Val903Asp					CTNNA2_ENST00000361291.4_Missense_Mutation_p.V889D|CTNNA2_ENST00000541047.1_Missense_Mutation_p.V855D|CTNNA2_ENST00000540488.1_Missense_Mutation_p.V810D|CTNNA2_ENST00000496558.1_Missense_Mutation_p.V855D|CTNNA2_ENST00000343114.3_Missense_Mutation_p.V534D|CTNNA2_ENST00000402739.4_Missense_Mutation_p.V903D	p.V855D			P26232	CTNA2_HUMAN			22	3288	+			903					B3KXE5|B7Z2W7|B7Z352|B7Z898|Q4ZFW1|Q53R26|Q53R33|Q53T67|Q53T71|Q53TM8|Q7Z3L1|Q7Z3Y0	Missense_Mutation	SNP	ENST00000402739.4	37	c.2564T>A		.	.	.	.	.	.	.	.	.	.	T	17.18	3.322629	0.60634	.	.	ENSG00000066032	ENST00000466387;ENST00000496558;ENST00000361291;ENST00000402739;ENST00000541047;ENST00000540488;ENST00000343114	T;T;T;T;T;T;T	0.37915	1.17;1.17;1.17;1.17;1.17;1.17;1.17	5.94	5.94	0.96194	.	0.160642	0.41605	D	0.000851	T	0.49847	0.1581	M	0.73962	2.25	0.80722	D	1	P;P;P;P	0.40230	0.708;0.627;0.552;0.552	B;B;B;P	0.46585	0.346;0.348;0.419;0.521	T	0.47446	-0.9117	9	.	.	.	.	16.3998	0.83635	0.0:0.0:0.0:1.0	.	487;903;810;855	F6KRI5;P26232;P26232-3;P26232-2	.;CTNA2_HUMAN;.;.	D	855;855;889;903;855;810;534	ENSP00000418191:V855D;ENSP00000419295:V855D;ENSP00000355398:V889D;ENSP00000384638:V903D;ENSP00000444675:V855D;ENSP00000441705:V810D;ENSP00000341500:V534D	.	V	+	2	0	CTNNA2	80728354	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.071000	0.41500	2.275000	0.75901	0.528000	0.53228	GTT		0.473	CTNNA2-003	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000328511.4	NM_004389		6	276	0	0	0	0.217242	0	6	276					A	80874843	T	A	80874843	3	1	32	1	0	0	0	0	1	0	0	0	4013	1725	60	5	2422	5	CTNNA2	2	80874843	Missense_Mutation	SNP	T	TCGA-CH-5766-01A-11D-1576-08	1	80874843	162324530	8	1574	12	2									
LCT	3938	broad.mit.edu	37	chr2	136567431	136567431	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aggcagatttcctgggagtcCttgacttgctgctgtcgctg	5	13	13	10	1	0	2	0	1	0	1	3	3	2	3	2	2	2	4	2	2	0	3			TCGA-CH-5766-01A-11D-1576-08	TCGA-CH-5766-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4a89263-a535-44dc-b2d4-86405c5a3191	8190fde9-3acf-40d4-90c8-2344c571c55e	g.chr2:136567431C>A	ENST00000264162.2	-	8	2496	c.2486G>T	c.(2485-2487)aGg>aTg	p.R829M	Y_RNA_ENST00000363794.1_RNA	NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	829	4 X approximate repeats.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	glycosylceramidase activity (GO:0017042)|lactase activity (GO:0000016)			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)	Vitamin C(DB00126)	CCTGGGAGTCCTTGACTTGCT	0.493																																						ENST00000264162.2																			0				breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124						c.(2485-2487)aGg>aTg		lactase							159	157	157					2																	136567431		2203	4300	6503	SO:0001583	missense	3938				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity	g.chr2:136567431C>A	X07994	CCDS2178.1	2q21	2014-09-17			ENSG00000115850	ENSG00000115850	3.2.1.108, 3.2.1.62		6530	protein-coding gene	gene with protein product		603202					Standard	NM_002299		Approved		uc002tuu.1	P09848	OTTHUMG00000131738	ENST00000264162.2:c.2486G>T	2.37:g.136567431C>A	ENSP00000264162:p.Arg829Met						p.R829M	NM_002299.2	NP_002290.2	P09848	LPH_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.169)	8	2496	-			829			4 X approximate repeats.		Q4ZG58	Missense_Mutation	SNP	ENST00000264162.2	37	c.2486G>T	CCDS2178.1	.	.	.	.	.	.	.	.	.	.	C	14.62	2.590998	0.46214	.	.	ENSG00000115850	ENST00000264162;ENST00000455227	T	0.74209	-0.82	5.78	4.89	0.63831	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.045928	0.85682	D	0.000000	D	0.91580	0.7340	H	0.97829	4.085	0.52099	D	0.999943	D	0.89917	1.0	D	0.87578	0.998	D	0.94878	0.8036	10	0.87932	D	0	-26.0285	16.8396	0.85965	0.0:0.8714:0.1286:0.0	.	829	P09848	LPH_HUMAN	M	829;261	ENSP00000264162:R829M	ENSP00000264162:R829M	R	-	2	0	LCT	136283901	1.000000	0.71417	1.000000	0.80357	0.046000	0.14306	7.818000	0.86416	1.424000	0.47217	-0.302000	0.09304	AGG		0.493	LCT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254657.1	NM_002299		5	302	1	0	0.184627	0.184627	0.194345	5	302					A	136567431	C	A	136567431	3	1	32	1	0	0	0	0	1	0	0	0	8693	681	24	5	3337	5	LCT	2	136567431	Missense_Mutation	SNP	C	TCGA-CH-5766-01A-11D-1576-08	55692588	136567431	106631942	9	1575											
SCN7A	6332	broad.mit.edu	37	chr2	167262940	167262940	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttttaacataggcaaaattaTacattccaaatacggcatag	17	12	5	7	1	0	0	0	0	0	0	1	0	1	0	1	2	3	2	1	2	9	8			TCGA-CH-5766-01A-11D-1576-08	TCGA-CH-5766-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4a89263-a535-44dc-b2d4-86405c5a3191	8190fde9-3acf-40d4-90c8-2344c571c55e	g.chr2:167262940T>C	ENST00000409855.1	-	25	4325	c.4199A>G	c.(4198-4200)tAt>tGt	p.Y1400C		NM_002976.3	NP_002967.2	Q01118	SCN7A_HUMAN	sodium channel, voltage-gated, type VII, alpha subunit	1400					membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|neuronal action potential (GO:0019228)|sodium ion homeostasis (GO:0055078)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	glial cell projection (GO:0097386)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)	p.Y1400C(3)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44					Valproic Acid(DB00313)	GGCAAAATTATACATTCCAAA	0.353																																						ENST00000409855.1																			3	Substitution - Missense(3)	p.Y1400C(3)	prostate(3)	breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44						c.(4198-4200)tAt>tGt		sodium channel, voltage-gated, type VII, alpha subunit							111	110	110					2																	167262940		1939	4169	6108	SO:0001583	missense	6332				muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:167262940T>C	M91556	CCDS46442.1	2q21-q23	2012-03-05	2012-02-28	2002-06-14	ENSG00000136546	ENSG00000136546		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10594	protein-coding gene	gene with protein product		182392	"sodium channel, voltage-gated, type VI, alpha", "sodium channel, voltage-gated, type VII, alpha"	SCN6A		10198179	Standard	NM_002976		Approved	Nav2.1, Nav2.2, NaG	uc002udu.2	Q01118	OTTHUMG00000154078	ENST00000409855.1:c.4199A>G	2.37:g.167262940T>C	ENSP00000386796:p.Tyr1400Cys						p.Y1400C	NM_002976.3	NP_002967.2	Q01118	SCN7A_HUMAN			25	4325	-			1400						Missense_Mutation	SNP	ENST00000409855.1	37	c.4199A>G	CCDS46442.1	.	.	.	.	.	.	.	.	.	.	T	17.10	3.301791	0.60195	.	.	ENSG00000136546	ENST00000409855;ENST00000259060	D	0.98474	-4.95	4.99	3.75	0.43078	Ion transport (1);	0.237508	0.30227	N	0.010115	D	0.98143	0.9387	L	0.60455	1.87	0.38807	D	0.955337	D	0.89917	1.0	D	0.77557	0.99	D	0.98294	1.0515	10	0.87932	D	0	.	9.0105	0.36137	0.0:0.0:0.2874:0.7126	.	1400	Q01118	SCN7A_HUMAN	C	1400	ENSP00000386796:Y1400C	ENSP00000259060:Y1400C	Y	-	2	0	SCN7A	166971186	1.000000	0.71417	1.000000	0.80357	0.889000	0.51656	5.692000	0.68256	2.226000	0.72624	0.482000	0.46254	TAT		0.353	SCN7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333745.1			22	151	0	0	0	0.608945	0	22	151					C	167262940	T	C	167262940	3	2	32	1	0	0	0	0	1	0	0	0	13923	1406	49	4	853	4	SCN7A	2	167262940	Missense_Mutation	SNP	T	TCGA-CH-5766-01A-11D-1576-08	30695509	167262940	75936433	10	1576											
TTN	7273	broad.mit.edu	37	chr2	179406214	179406214	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tccacaatatatccagtcacTtgggagccaccgtcatcctc	10	10	6	15	1	2	0	2	0	0	0	6	1	5	1	5	1	1	0	5	1	3	3			TCGA-CH-5766-01A-11D-1576-08	TCGA-CH-5766-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4a89263-a535-44dc-b2d4-86405c5a3191	8190fde9-3acf-40d4-90c8-2344c571c55e	g.chr2:179406214T>A	ENST00000591111.1	-	300	92891	c.92667A>T	c.(92665-92667)caA>caT	p.Q30889H	RP11-65L3.4_ENST00000604692.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.Q23465H|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.Q32530H|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.Q29962H|TTN-AS1_ENST00000415561.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.Q23657H|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.Q23590H|TTN-AS1_ENST00000588716.1_RNA			Q8WZ42	TITIN_HUMAN	titin	30889	Fibronectin type-III 125. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.Q23465H(2)|p.Q23657H(1)|p.Q29960H(1)|p.Q29962H(1)|p.Q23590H(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATCCAGTCACTTGGGAGCCAC	0.498																																						ENST00000589042.1																			6	Substitution - Missense(6)	p.Q23465H(2)|p.Q23657H(1)|p.Q29960H(1)|p.Q29962H(1)|p.Q23590H(1)	prostate(6)	NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(97588-97590)caA>caT		titin							109	104	105					2																	179406214		1957	4143	6100	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179406214T>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.92667A>T	2.37:g.179406214T>A	ENSP00000465570:p.Gln30889His					TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.Q23465H|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.Q29962H|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|RP11-65L3.4_ENST00000604692.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.Q23657H|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.Q30889H|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.Q23590H	p.Q32530H	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		350	97814	-			30889			Ig-like 143.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.97590A>T		.	.	.	.	.	.	.	.	.	.	T	17.32	3.359547	0.61403	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.57273	0.41;0.41;0.41;0.41	5.72	2.05	0.26809	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.46190	0.1380	N	0.17594	0.5	0.32610	N	0.524803	D;D;D;D	0.56287	0.975;0.975;0.975;0.975	P;P;P;P	0.55011	0.766;0.766;0.766;0.766	T	0.56153	-0.8026	9	0.87932	D	0	.	7.5252	0.27652	0.0:0.4941:0.0:0.5059	.	23465;23590;23657;30889	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	H	29962;23465;23657;23590;23462	ENSP00000343764:Q29962H;ENSP00000434586:Q23465H;ENSP00000340554:Q23657H;ENSP00000352154:Q23590H	ENSP00000340554:Q23657H	Q	-	3	2	TTN	179114460	0.986000	0.35501	1.000000	0.80357	0.998000	0.95712	0.191000	0.17076	0.436000	0.26393	0.459000	0.35465	CAA		0.498	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		11	30	0	0	0	0.411799	0	11	30					A	179406214	T	A	179406214	3	1	32	1	0	0	0	0	1	0	0	0	16732	1606	56	5	10441	5	TTN	2	179406214	Missense_Mutation	SNP	T	TCGA-CH-5766-01A-11D-1576-08	12143274	179406214	63793159	11	1577											
TTN	7273	broad.mit.edu	37	chr2	179604912	179604912	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gatttggtctgggggcatcaCcacgttgtcagaatgctctt	7	13	12	9	1	4	1	2	0	2	1	4	2	4	1	1	3	1	3	1	3	1	3			TCGA-CH-5766-01A-11D-1576-08	TCGA-CH-5766-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4a89263-a535-44dc-b2d4-86405c5a3191	8190fde9-3acf-40d4-90c8-2344c571c55e	g.chr2:179604912C>G	ENST00000591111.1	-	46	12321	c.12097G>C	c.(12097-12099)Gtg>Ctg	p.V4033L	TTN_ENST00000460472.2_Missense_Mutation_p.V3987L|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.V4350L|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.V4179L|TTN_ENST00000359218.5_Missense_Mutation_p.V4112L			Q8WZ42	TITIN_HUMAN	titin	0					adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.V4112L(1)|p.V3987L(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GGGGGCATCACCACGTTGTCA	0.458																																						ENST00000589042.1																			2	Substitution - Missense(2)	p.V4112L(1)|p.V3987L(1)	prostate(2)	NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(13048-13050)Gtg>Ctg		titin							94	92	93					2																	179604912		1890	4120	6010	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179604912C>G	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.12097G>C	2.37:g.179604912C>G	ENSP00000465570:p.Val4033Leu					TTN_ENST00000460472.2_Missense_Mutation_p.V3987L|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.V4179L|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.V4033L|TTN_ENST00000359218.5_Missense_Mutation_p.V4112L|TTN-AS1_ENST00000582847.1_RNA	p.V4350L	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		48	13272	-			4033			Ig-like 23.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.13048G>C		.	.	.	.	.	.	.	.	.	.	C	3.334	-0.136143	0.06711	.	.	ENSG00000155657	ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T	0.59364	0.31;0.28;0.27	5.79	-1.04	0.10068	.	.	.	.	.	T	0.29850	0.0746	N	0.08118	0	0.09310	N	1	B;B;B	0.06786	0.001;0.001;0.001	B;B;B	0.06405	0.001;0.001;0.002	T	0.21109	-1.0255	9	0.87932	D	0	.	1.2778	0.02034	0.2664:0.3508:0.0954:0.2874	.	3987;4112;4179	D3DPF9;E7EQE6;E7ET18	.;.;.	L	3987;4179;4112;3987	ENSP00000434586:V3987L;ENSP00000340554:V4179L;ENSP00000352154:V4112L	ENSP00000340554:V4179L	V	-	1	0	TTN	179313157	0.000000	0.05858	0.000000	0.03702	0.098000	0.18820	-0.766000	0.04725	0.069000	0.16605	0.563000	0.77884	GTG		0.458	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		16	137	0	0	0	0.479597	0	16	137					G	179604912	C	G	179604912	3	3	32	1	0	0	0	0	1	0	0	0	16732	507	18	5	91741	5	TTN	2	179604912	Missense_Mutation	SNP	C	TCGA-CH-5766-01A-11D-1576-08	198698	179604912	63594461	12	1578											
ADAM23	8745	broad.mit.edu	37	chr2	207425911	207425911	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctttggaggtgtctgttctcGcacaagaggagttggtgtga	7	13	15	6	1	2	2	0	1	2	1	3	4	2	4	0	4	0	3	0	4	1	3			TCGA-CH-5766-01A-11D-1576-08	TCGA-CH-5766-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4a89263-a535-44dc-b2d4-86405c5a3191	8190fde9-3acf-40d4-90c8-2344c571c55e	g.chr2:207425911G>A	ENST00000264377.3	+	12	1557	c.1229G>A	c.(1228-1230)cGc>cAc	p.R410H	ADAM23_ENST00000374416.1_Missense_Mutation_p.R410H|ADAM23_ENST00000374415.3_Missense_Mutation_p.R410H	NM_003812.2	NP_003803.1	O75077	ADA23_HUMAN	ADAM metallopeptidase domain 23	410	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				cell adhesion (GO:0007155)|central nervous system development (GO:0007417)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.R410H(2)		NS(2)|breast(1)|endometrium(6)|kidney(3)|large_intestine(5)|liver(2)|lung(22)|ovary(2)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	51				LUSC - Lung squamous cell carcinoma(261;0.0961)|Lung(261;0.182)|Epithelial(149;0.205)		GTCTGTTCTCGCACAAGAGGA	0.413																																					Melanoma(194;1127 2130 19620 24042 27855)	ENST00000264377.3																			2	Substitution - Missense(2)	p.R410H(2)	prostate(2)	NS(2)|breast(1)|endometrium(6)|kidney(3)|large_intestine(5)|liver(2)|lung(22)|ovary(2)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	51						c.(1228-1230)cGc>cAc		ADAM metallopeptidase domain 23							155	160	158					2																	207425911		2203	4300	6503	SO:0001583	missense	8745				cell adhesion|central nervous system development|proteolysis	extracellular region|integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding	g.chr2:207425911G>A	AB009672	CCDS2369.1	2q33	2008-06-12	2005-08-18		ENSG00000114948	ENSG00000114948		"ADAM metallopeptidase domain containing"	202	protein-coding gene	gene with protein product		603710	"a disintegrin and metalloproteinase domain 23"			9693107	Standard	NM_003812		Approved	MDC3	uc002vbq.4	O75077	OTTHUMG00000132919	ENST00000264377.3:c.1229G>A	2.37:g.207425911G>A	ENSP00000264377:p.Arg410His					ADAM23_ENST00000374415.3_Missense_Mutation_p.R410H|ADAM23_ENST00000374416.1_Missense_Mutation_p.R410H	p.R410H	NM_003812.2	NP_003803.1	O75077	ADA23_HUMAN		LUSC - Lung squamous cell carcinoma(261;0.0961)|Lung(261;0.182)|Epithelial(149;0.205)	12	1557	+			410			Peptidase M12B.		A2RU59	Missense_Mutation	SNP	ENST00000264377.3	37	c.1229G>A	CCDS2369.1	.	.	.	.	.	.	.	.	.	.	G	14.01	2.409037	0.42715	.	.	ENSG00000114948	ENST00000264377;ENST00000374416;ENST00000431817;ENST00000374415	T;T;T	0.09630	2.96;2.96;2.96	5.92	3.8	0.43715	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.382911	0.21835	N	0.068402	T	0.06096	0.0158	N	0.17082	0.46	0.29434	N	0.859679	B	0.02656	0.0	B	0.04013	0.001	T	0.14420	-1.0473	10	0.34782	T	0.22	.	6.0539	0.19800	0.1747:0.0:0.6327:0.1926	.	410	O75077	ADA23_HUMAN	H	410;410;304;410	ENSP00000264377:R410H;ENSP00000363537:R410H;ENSP00000363536:R410H	ENSP00000264377:R410H	R	+	2	0	ADAM23	207134156	0.991000	0.36638	1.000000	0.80357	0.997000	0.91878	0.937000	0.28951	1.498000	0.48600	0.655000	0.94253	CGC		0.413	ADAM23-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256431.2	NM_003812		25	65	0	0	0	0.654019	0	25	65					A	207425911	G	A	207425911	3	1	32	1	0	0	0	0	1	0	0	0	245	1087	38	1	1275	1	ADAM23	2	207425911	Missense_Mutation	SNP	G	TCGA-CH-5766-01A-11D-1576-08	27820999	207425911	35773462	13	1579											
HDAC11	79885	broad.mit.edu	37	chr3	13542247	13542247	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cactgctccagcgaccgtggCgggggcttctgtgcctatgc	4	9	14	14	3	1	0	0	0	1	0	2	1	2	0	3	3	4	2	3	3	1	2			TCGA-CH-5766-01A-11D-1576-08	TCGA-CH-5766-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4a89263-a535-44dc-b2d4-86405c5a3191	8190fde9-3acf-40d4-90c8-2344c571c55e	g.chr3:13542247C>T	ENST00000295757.3	+	6	630	c.447C>T	c.(445-447)ggC>ggT	p.G149G	HDAC11_ENST00000405025.1_Intron|HDAC11_ENST00000437379.2_Silent_p.G121G|HDAC11_ENST00000522202.1_Silent_p.G98G|HDAC11_ENST00000495099.2_Intron|HDAC11_ENST00000404548.1_Intron|HDAC11_ENST00000446613.2_Intron|HDAC11_ENST00000433119.1_Missense_Mutation_p.A107V|HDAC11_ENST00000402259.1_Intron|HDAC11_ENST00000402271.1_Intron|HDAC11_ENST00000404040.1_Intron	NM_024827.3	NP_079103.2	Q96DB2	HDA11_HUMAN	histone deacetylase 11	149	Histone deacetylase.				chromatin modification (GO:0016568)|histone deacetylation (GO:0016575)|oligodendrocyte development (GO:0014003)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|histone deacetylase complex (GO:0000118)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	histone deacetylase activity (GO:0004407)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|transcription factor binding (GO:0008134)	p.G149G(2)		breast(1)|endometrium(2)|large_intestine(1)|lung(2)|ovary(4)|prostate(3)	13						GCGACCGTGGCGGGGGCTTCT	0.647											OREG0015412	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000433119.1																			2	Substitution - coding silent(2)	p.G149G(2)	prostate(2)	breast(1)|endometrium(2)|large_intestine(1)|lung(2)|ovary(4)|prostate(3)	13						c.(319-321)gCg>gTg		histone deacetylase 11							23	21	22					3																	13542247		2201	4299	6500	SO:0001819	synonymous_variant	79885				regulation of transcription, DNA-dependent|transcription, DNA-dependent	histone deacetylase complex|plasma membrane	histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|transcription factor binding	g.chr3:13542247C>T	AK025426	CCDS2615.1, CCDS46760.1	3p25.1	2008-07-18			ENSG00000163517	ENSG00000163517	3.5.1.98		19086	protein-coding gene	gene with protein product		607226				11948178	Standard	NM_001136041		Approved		uc003bxy.3	Q96DB2	OTTHUMG00000129800	ENST00000295757.3:c.447C>T	3.37:g.13542247C>T			OREG0015412	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	688	HDAC11_ENST00000295757.3_Silent_p.G149G|HDAC11_ENST00000402259.1_Intron|HDAC11_ENST00000402271.1_Intron|HDAC11_ENST00000405025.1_Intron|HDAC11_ENST00000404548.1_Intron|HDAC11_ENST00000446613.2_Intron|HDAC11_ENST00000437379.2_Silent_p.G121G|HDAC11_ENST00000522202.1_Silent_p.G98G|HDAC11_ENST00000404040.1_Intron|HDAC11_ENST00000495099.2_Intron	p.A107V			Q96DB2	HDA11_HUMAN			5	795	+			0			Histone deacetylase.		B4DDK1|Q9H6I7|Q9H6X3|Q9NTC9	Missense_Mutation	SNP	ENST00000295757.3	37	c.320C>T	CCDS2615.1	.	.	.	.	.	.	.	.	.	.	C	2.585	-0.296505	0.05532	.	.	ENSG00000163517	ENST00000433119;ENST00000434848	.	.	.	4.52	-0.827	0.10802	.	.	.	.	.	T	0.41488	0.1161	.	.	.	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.27536	-1.0071	7	0.87932	D	0	0.0072	3.9885	0.09527	0.2781:0.4555:0.0:0.2664	.	107	Q658J9	.	V	107;115	.	ENSP00000412514:A107V	A	+	2	0	HDAC11	13517247	0.000000	0.05858	0.996000	0.52242	0.874000	0.50279	-4.373000	0.00244	-0.007000	0.14345	-0.812000	0.03155	GCG		0.647	HDAC11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252028.5	NM_024827		4	7	0	0	0	0.150653	0	4	7					T	13542247	C	T	13542247	2	4	32	1	0	0	0	0	0	0	0	1	7006	755	27	1		1	HDAC11	3	13542247	Silent	SNP	C	TCGA-CH-5766-01A-11D-1576-08		13542247	184480183	14	1580											
DLEC1	9940	broad.mit.edu	37	chr3	38135139	38135139	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatctgatctatatttctggTgaaaaaagccagccagaccc	13	10	8	10	0	3	3	0	2	3	1	3	4	3	3	3	1	2	0	3	1	5	3			TCGA-CH-5766-01A-11D-1576-08	TCGA-CH-5766-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4a89263-a535-44dc-b2d4-86405c5a3191	8190fde9-3acf-40d4-90c8-2344c571c55e	g.chr3:38135139T>C	ENST00000308059.6	+	12	1821	c.1800T>C	c.(1798-1800)ggT>ggC	p.G600G	DLEC1_ENST00000452631.2_Silent_p.G600G|DLEC1_ENST00000346219.3_Silent_p.G600G					deleted in lung and esophageal cancer 1									p.G600G(2)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(3)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	51				KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)		ATATTTCTGGTGAAAAAAGCC	0.493																																						ENST00000308059.6																			2	Substitution - coding silent(2)	p.G600G(2)	prostate(2)	NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(3)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	51						c.(1798-1800)ggT>ggC		deleted in lung and esophageal cancer 1							112	111	111					3																	38135139		1917	4140	6057	SO:0001819	synonymous_variant	9940				negative regulation of cell proliferation	cytoplasm		g.chr3:38135139T>C	AB020522	CCDS2672.2	3p21.3	2014-07-31			ENSG00000008226	ENSG00000008226			2899	protein-coding gene	gene with protein product	"cilia and flagella associated protein 81"	604050				10213508	Standard	XM_005265630		Approved	DLC1, CFAP81	uc003chp.1	Q9Y238	OTTHUMG00000131085	ENST00000308059.6:c.1800T>C	3.37:g.38135139T>C						DLEC1_ENST00000346219.3_Silent_p.G600G|DLEC1_ENST00000452631.2_Silent_p.G600G	p.G600G			Q9Y238	DLEC1_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)	12	1821	+			600						Silent	SNP	ENST00000308059.6	37	c.1800T>C	CCDS2672.2																																																																																				0.493	DLEC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253745.3	NM_007337		28	93	0	0	0	0.693898	0	28	93					C	38135139	T	C	38135139	2	2	32	1	0	0	0	0	0	0	0	1	4552	1683	59	4		4	DLEC1	3	38135139	Silent	SNP	T	TCGA-CH-5766-01A-11D-1576-08	24592892	38135139	159887291	15	1581											
PSMD6	9861	broad.mit.edu	37	chr3	63996409	63996409	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cagatctcctttcttgatagTttcttggtactgccagttct	6	18	7	10	0	4	2	0	1	4	1	5	2	4	2	2	1	2	3	2	1	2	7			TCGA-CH-5766-01A-11D-1576-08	TCGA-CH-5766-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4a89263-a535-44dc-b2d4-86405c5a3191	8190fde9-3acf-40d4-90c8-2344c571c55e	g.chr3:63996409T>G	ENST00000295901.4	-	8	1245	c.1105A>C	c.(1105-1107)Act>Cct	p.T369P	PSMD6-AS2_ENST00000472046.1_RNA|PSMD6_ENST00000394431.2_Missense_Mutation_p.T331P|RP11-245J9.4_ENST00000462717.1_RNA|PSMD6_ENST00000482510.1_Missense_Mutation_p.T330P|PSMD6_ENST00000492933.1_Missense_Mutation_p.T422P|RP11-245J9.5_ENST00000607115.1_lincRNA	NM_014814.1	NP_055629.1	Q15008	PSMD6_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 6	369					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|ATP catabolic process (GO:0006200)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|proteolysis (GO:0006508)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)	ATPase activity (GO:0016887)	p.T369P(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|pancreas(1)|prostate(1)|skin(1)	13		Lung NSC(201;0.136)		BRCA - Breast invasive adenocarcinoma(55;0.000805)|Kidney(15;0.00188)|KIRC - Kidney renal clear cell carcinoma(15;0.00212)		TTCTTGATAGTTTCTTGGTAC	0.318																																						ENST00000492933.1																			1	Substitution - Missense(1)	p.T369P(1)	prostate(1)	central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|pancreas(1)|prostate(1)|skin(1)	13						c.(1264-1266)Act>Cct		proteasome (prosome, macropain) 26S subunit, non-ATPase, 6							95	94	95					3																	63996409		2203	4296	6499	SO:0001583	missense	9861				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome complex	ATPase activity|protein binding	g.chr3:63996409T>G	AF215935	CCDS2901.1, CCDS63677.1, CCDS63678.1, CCDS63679.1	3p14.1	2008-05-22			ENSG00000163636	ENSG00000163636		"Proteasome (prosome, macropain) subunits"	9564	protein-coding gene	gene with protein product						10723133	Standard	NM_001271779		Approved	S10, p44S10, KIAA0107, Rpn7	uc003dmb.2	Q15008	OTTHUMG00000158765	ENST00000295901.4:c.1105A>C	3.37:g.63996409T>G	ENSP00000295901:p.Thr369Pro					PSMD6_ENST00000295901.4_Missense_Mutation_p.T369P|PSMD6_ENST00000394431.2_Missense_Mutation_p.T331P|PSMD6-AS2_ENST00000472046.1_RNA|PSMD6_ENST00000482510.1_Missense_Mutation_p.T330P	p.T422P	NM_001271779.1	NP_001258708.1	Q15008	PSMD6_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000805)|Kidney(15;0.00188)|KIRC - Kidney renal clear cell carcinoma(15;0.00212)	9	1316	-		Lung NSC(201;0.136)	369					A8K2E0|E9PHI9|Q6UV22	Missense_Mutation	SNP	ENST00000295901.4	37	c.1264A>C	CCDS2901.1	.	.	.	.	.	.	.	.	.	.	T	24.8	4.570686	0.86542	.	.	ENSG00000163636	ENST00000295901;ENST00000492933;ENST00000394431;ENST00000482510	.	.	.	5.74	5.74	0.90152	Proteasome component (PCI) domain (1);	0.000000	0.85682	D	0.000000	T	0.77096	0.4080	M	0.78801	2.425	0.80722	D	1	P;P;D;P	0.60575	0.902;0.819;0.988;0.919	P;P;P;P	0.59703	0.548;0.707;0.862;0.646	T	0.79834	-0.1636	9	0.59425	D	0.04	-28.7947	16.0357	0.80628	0.0:0.0:0.0:1.0	.	331;330;422;369	Q6UV22;E9PHI9;C9IZE4;Q15008	.;.;.;PSMD6_HUMAN	P	369;422;331;330	.	ENSP00000295901:T369P	T	-	1	0	PSMD6	63971449	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.040000	0.89188	2.192000	0.70111	0.528000	0.53228	ACT		0.318	PSMD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352082.1	NM_014814		12	84	0	0	0	0.435327	0	12	84					G	63996409	T	G	63996409	3	3	32	1	0	0	0	0	1	0	0	0	12702	1725	60	5	68	5	PSMD6	3	63996409	Missense_Mutation	SNP	T	TCGA-CH-5766-01A-11D-1576-08	25861270	63996409	134026021	16	1582											
EPHB1	2047	broad.mit.edu	37	chr3	134911533	134911533	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aagcagcgtcgggactttctGagtgaggcgagcatcatggg	9	8	16	8	3	2	2	1	2	1	0	3	4	2	3	0	3	3	2	0	3	1	1			TCGA-CH-5766-01A-11D-1576-08	TCGA-CH-5766-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4a89263-a535-44dc-b2d4-86405c5a3191	8190fde9-3acf-40d4-90c8-2344c571c55e	g.chr3:134911533G>C	ENST00000398015.3	+	11	2368	c.1998G>C	c.(1996-1998)ctG>ctC	p.L666L	EPHB1_ENST00000493838.1_Silent_p.L227L	NM_004441.4	NP_004432.1	P54762	EPHB1_HUMAN	EPH receptor B1	666	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|camera-type eye morphogenesis (GO:0048593)|cell chemotaxis (GO:0060326)|cell-substrate adhesion (GO:0031589)|central nervous system projection neuron axonogenesis (GO:0021952)|dendritic spine development (GO:0060996)|dendritic spine morphogenesis (GO:0060997)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|ephrin receptor signaling pathway (GO:0048013)|establishment of cell polarity (GO:0030010)|neural precursor cell proliferation (GO:0061351)|neurogenesis (GO:0022008)|optic nerve morphogenesis (GO:0021631)|positive regulation of synapse assembly (GO:0051965)|protein autophosphorylation (GO:0046777)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of JNK cascade (GO:0046328)|retinal ganglion cell axon guidance (GO:0031290)	axon (GO:0030424)|early endosome membrane (GO:0031901)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|transmembrane-ephrin receptor activity (GO:0005005)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						GGGACTTTCTGAGTGAGGCGA	0.547																																						ENST00000398015.3																			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						c.(1996-1998)ctG>ctC		EPH receptor B1							97	100	99					3																	134911533		2198	4299	6497	SO:0001819	synonymous_variant	2047					integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding	g.chr3:134911533G>C	L40636	CCDS46921.1	3q21-q23	2013-02-11	2004-10-28			ENSG00000154928		"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3392	protein-coding gene	gene with protein product		600600	"EphB1"	EPHT2		8666391	Standard	NM_004441		Approved	Hek6	uc003eqt.3	P54762		ENST00000398015.3:c.1998G>C	3.37:g.134911533G>C						EPHB1_ENST00000493838.1_Silent_p.L227L	p.L666L	NM_004441.4	NP_004432.1	P54762	EPHB1_HUMAN			11	2368	+			666			Protein kinase.		A8K593|B3KTB2|B5A969|O43569|O95142|O95143|Q0VG87	Silent	SNP	ENST00000398015.3	37	c.1998G>C	CCDS46921.1																																																																																				0.547	EPHB1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357671.1	NM_004441		4	49	0	0	0	0.150653	0	4	49					C	134911533	G	C	134911533	2	2	32	1	0	0	0	0	0	0	0	1	5174	1277	45	5		5	EPHB1	3	134911533	Silent	SNP	G	TCGA-CH-5766-01A-11D-1576-08	70915124	134911533	63110897	17	1583											
OTUD4	54726	broad.mit.edu	37	chr4	146058804	146058804	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccataagtttgattatagaaCtgcttggatctaccacttct	11	15	6	9	0	2	2	0	1	2	1	2	3	2	3	2	1	3	2	2	1	5	7			TCGA-CH-5766-01A-11D-1576-08	TCGA-CH-5766-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4a89263-a535-44dc-b2d4-86405c5a3191	8190fde9-3acf-40d4-90c8-2344c571c55e	g.chr4:146058804C>A	ENST00000447906.2	-	21	3310	c.3123G>T	c.(3121-3123)caG>caT	p.Q1041H	OTUD4_ENST00000455611.2_Intron|OTUD4_ENST00000454497.2_Missense_Mutation_p.Q976H			Q01804	OTUD4_HUMAN	OTU deubiquitinase 4	1041					protein K48-linked deubiquitination (GO:0071108)		poly(A) RNA binding (GO:0044822)|ubiquitin-specific protease activity (GO:0004843)	p.Q976H(1)|p.Q975H(1)		breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33	all_hematologic(180;0.151)					GATTATAGAACTGCTTGGATC	0.413																																						ENST00000454497.2																			2	Substitution - Missense(2)	p.Q976H(1)|p.Q975H(1)	prostate(2)	breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33						c.(2926-2928)caG>caT		OTU domain containing 4							202	204	203					4																	146058804		2203	4300	6503	SO:0001583	missense	54726						protein binding	g.chr4:146058804C>A		CCDS3764.1, CCDS47139.1	4q31.21	2014-02-24	2014-02-24		ENSG00000164164	ENSG00000164164		"OTU domain containing"	24949	protein-coding gene	gene with protein product		611744	"OTU domain containing 4"			1475186, 12727813, 19996094	Standard	NM_001102653		Approved	HSHIN1, KIAA1046, DUBA6	uc003ika.4	Q01804	OTTHUMG00000161480	ENST00000447906.2:c.3123G>T	4.37:g.146058804C>A	ENSP00000395487:p.Gln1041His					OTUD4_ENST00000447906.2_Missense_Mutation_p.Q1041H|OTUD4_ENST00000455611.2_Intron	p.Q976H	NM_001102653.1	NP_001096123.1	Q01804	OTUD4_HUMAN			21	3065	-	all_hematologic(180;0.151)		1040					B4DYS4|Q147U2|Q1ZYK1|Q6PG39|Q96MQ5|Q9NT94|Q9UPV6	Missense_Mutation	SNP	ENST00000447906.2	37	c.2928G>T		.	.	.	.	.	.	.	.	.	.	C	13.15	2.149801	0.37923	.	.	ENSG00000164164	ENST00000454497;ENST00000447906	T;T	0.35973	1.29;1.28	6.17	3.5	0.40072	.	0.257228	0.34245	N	0.004126	T	0.24699	0.0599	L	0.32530	0.975	0.80722	D	1	B;B	0.15141	0.012;0.007	B;B	0.14578	0.011;0.005	T	0.07481	-1.0770	10	0.72032	D	0.01	-6.607	5.1599	0.15056	0.2511:0.5536:0.0:0.1953	.	1041;1040	G3V0I6;Q01804	.;OTUD4_HUMAN	H	976;1041	ENSP00000409279:Q976H;ENSP00000395487:Q1041H	ENSP00000395487:Q1041H	Q	-	3	2	OTUD4	146278254	0.965000	0.33210	1.000000	0.80357	0.997000	0.91878	-0.094000	0.11094	0.457000	0.26962	0.655000	0.94253	CAG		0.413	OTUD4-004	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000365117.2	NM_017493		47	384	1	0	6.1207e-33	0.864702	7.65087e-33	47	384					A	146058804	C	A	146058804	3	1	32	1	0	0	0	0	1	0	0	0	11314	564	20	5	225	5	OTUD4	4	146058804	Missense_Mutation	SNP	C	TCGA-CH-5766-01A-11D-1576-08		146058804	45095472	18	1584											
BDP1	55814	broad.mit.edu	37	chr5	70751835	70751835	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggatcctgccacggactctgCttccaagcccgcggagccca	7	6	11	17	3	1	0	0	0	1	0	3	3	3	3	5	3	4	1	5	3	1	1			TCGA-CH-5766-01A-11D-1576-08	TCGA-CH-5766-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4a89263-a535-44dc-b2d4-86405c5a3191	8190fde9-3acf-40d4-90c8-2344c571c55e	g.chr5:70751835C>A	ENST00000358731.4	+	1	394	c.131C>A	c.(130-132)gCt>gAt	p.A44D	BDP1_ENST00000380675.2_5'UTR	NM_018429.2	NP_060899.2	A6H8Y1	BDP1_HUMAN	B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB	44	Interaction with ZBTB43.				gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase III promoter (GO:0006383)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)		ACGGACTCTGCTTCCAAGCCC	0.642																																						ENST00000358731.4																			0				NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72						c.(130-132)gCt>gAt		B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB							24	28	26					5																	70751835		1894	4115	6009	SO:0001583	missense	55814				regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding	g.chr5:70751835C>A	AF298151	CCDS43328.1	5q12-q13	2008-02-05	2001-11-29	2001-11-30	ENSG00000145734	ENSG00000145734			13652	protein-coding gene	gene with protein product		607012	"TATA box binding protein (TBP)-associated factor, RNA polymerase III, GTF3B subunit 1"	TFNR, TAF3B1		11214970, 11040218	Standard	NM_018429		Approved	TFIIIB150, TFC5, TFIIIB90, KIAA1689, HSA238520, KIAA1241	uc003kbp.1	A6H8Y1	OTTHUMG00000162506	ENST00000358731.4:c.131C>A	5.37:g.70751835C>A	ENSP00000351575:p.Ala44Asp					BDP1_ENST00000380675.2_5'UTR	p.A44D	NM_018429.2	NP_060899.2	A6H8Y1	BDP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)	1	394	+		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)	44			Interaction with ZBTB43.		Q68DS6|Q68DY5|Q6MZL9|Q6PIM7|Q86W98|Q96LR8|Q9C0H4|Q9H197|Q9H1A1|Q9HAW1|Q9HAW2|Q9HCY0|Q9ULH9	Missense_Mutation	SNP	ENST00000358731.4	37	c.131C>A	CCDS43328.1	.	.	.	.	.	.	.	.	.	.	C	7.562	0.664916	0.14710	.	.	ENSG00000145734	ENST00000358731;ENST00000437938;ENST00000444711	T	0.23348	1.91	5.08	4.22	0.49857	.	0.843646	0.10548	N	0.661771	T	0.26919	0.0659	L	0.36672	1.1	0.31816	N	0.626586	P;B;B	0.47762	0.9;0.046;0.01	P;B;B	0.48141	0.568;0.032;0.006	T	0.09552	-1.0669	10	0.27082	T	0.32	.	9.6095	0.39654	0.0:0.9051:0.0:0.0949	.	44;44;44	A6H8Y1;A6H8Y1-2;A6H8Y1-4	BDP1_HUMAN;.;.	D	44	ENSP00000351575:A44D	ENSP00000351575:A44D	A	+	2	0	BDP1	70787591	0.002000	0.14202	0.004000	0.12327	0.066000	0.16364	0.001000	0.13038	1.367000	0.46095	0.655000	0.94253	GCT		0.642	BDP1-016	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000374681.2	NM_018429		5	48	1	0	0.184627	0.184627	0.194345	5	48					A	70751835	C	A	70751835	3	1	32	1	0	0	0	0	1	0	0	0	1395	797	28	5	133	5	BDP1	5	70751835	Missense_Mutation	SNP	C	TCGA-CH-5766-01A-11D-1576-08		70751835	110163425	19	1585											
HEXB	3074	broad.mit.edu	37	chr5	74016258	74016259	+	In_Frame_Ins	INS	-	-	AGA																															tgattttaatttaggtactcINSagaaacagaaacaacttttc																										TCGA-CH-5766-01A-11D-1576-08	TCGA-CH-5766-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4a89263-a535-44dc-b2d4-86405c5a3191	8190fde9-3acf-40d4-90c8-2344c571c55e	g.chr5:74016258_74016259insAGA	ENST00000261416.7	+	12	1540_1541	c.1423_1424insAGA	c.(1423-1425)cag>cAGAag	p.476_477insK	HEXB_ENST00000509579.1_5'UTR|HEXB_ENST00000513539.1_3'UTR|HEXB_ENST00000511181.1_In_Frame_Ins_p.251_252insK|GFM2_ENST00000515125.1_5'Flank	NM_000521.3	NP_000512	P07686	HEXB_HUMAN	hexosaminidase B (beta polypeptide)	476					astrocyte cell migration (GO:0043615)|carbohydrate metabolic process (GO:0005975)|cell death (GO:0008219)|cellular calcium ion homeostasis (GO:0006874)|cellular protein metabolic process (GO:0044267)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|ganglioside catabolic process (GO:0006689)|glycosaminoglycan metabolic process (GO:0030203)|glycosphingolipid metabolic process (GO:0006687)|hyaluronan catabolic process (GO:0030214)|hyaluronan metabolic process (GO:0030212)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|lipid storage (GO:0019915)|locomotory behavior (GO:0007626)|lysosome organization (GO:0007040)|male courtship behavior (GO:0008049)|myelination (GO:0042552)|neuromuscular process controlling balance (GO:0050885)|oligosaccharide catabolic process (GO:0009313)|oogenesis (GO:0048477)|penetration of zona pellucida (GO:0007341)|phospholipid biosynthetic process (GO:0008654)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell shape (GO:0008360)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	acrosomal vesicle (GO:0001669)|extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)	beta-N-acetylhexosaminidase activity (GO:0004563)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			endometrium(2)|kidney(3)|large_intestine(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	14		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Breast(144;0.231)		OV - Ovarian serous cystadenocarcinoma(47;1.72e-57)		TTTAGGTACTCAGAAACAGAAA	0.361																																					Melanoma(66;841 1270 13391 18706 27225)	ENST00000511181.1																			0				endometrium(2)|kidney(3)|large_intestine(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	14						c.(748-750)gaa>AGAgaa		hexosaminidase B (beta polypeptide)																																				SO:0001652	inframe_insertion	3074				cell death	lysosome	cation binding|protein heterodimerization activity|protein homodimerization activity	g.chr5:74016258_74016259insAGA	M13519	CCDS4022.1	5q13.3	2012-10-02			ENSG00000049860	ENSG00000049860	3.2.1.52		4879	protein-coding gene	gene with protein product		606873				2579389, 3013851	Standard	NM_000521		Approved		uc003kdf.4	P07686	OTTHUMG00000102057	ENST00000261416.7:c.1424_1426dupAGA	5.37:g.74016259_74016261dupAGA	ENSP00000261416:p.Lys477_Lys478dup					HEXB_ENST00000261416.7_In_Frame_Ins_p.474_475insR|HEXB_ENST00000509579.1_5'UTR|HEXB_ENST00000513539.1_3'UTR	p.249_250insR			P07686	HEXB_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;1.72e-57)	12	1660_1661	+		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Breast(144;0.231)	474						In_Frame_Ins	INS	ENST00000261416.7	37	c.748_749insAGA	CCDS4022.1																																																																																				0.361	HEXB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219859.6	NM_000521		20	74						20	74	---	---	---	---	AGA	74016259	-	AGA	74016258	7	5	32	1	0	1	1	0	0	0	0	0	7074	827	29	0	1469	0	HEXB	5	74016258	In_Frame_Ins	INS	-	TCGA-CH-5766-01A-11D-1576-08	3264423	74016258	106899002	20	1586											
SLC4A9	83697	broad.mit.edu	37	chr5	139744179	139744179	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aagcctgggtcctctgcctaCgggtgcctctgccaataccc	6	9	10	16	1	2	0	0	0	2	0	3	0	3	0	6	2	6	0	6	2	4	2	rs369172069	byFrequency	TCGA-CH-5766-01A-11D-1576-08	TCGA-CH-5766-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4a89263-a535-44dc-b2d4-86405c5a3191	8190fde9-3acf-40d4-90c8-2344c571c55e	g.chr5:139744179C>T	ENST00000230993.6	+	11	1727	c.1692C>T	c.(1690-1692)taC>taT	p.Y564Y	SLC4A9_ENST00000507527.1_Silent_p.Y564Y|SLC4A9_ENST00000506545.1_Silent_p.Y540Y|SLC4A9_ENST00000432095.2_Silent_p.Y529Y|SLC4A9_ENST00000506757.2_Silent_p.Y540Y	NM_001258428.1	NP_001245357.1	Q96Q91	B3A4_HUMAN	solute carrier family 4, sodium bicarbonate cotransporter, member 9	564	Membrane (anion exchange).				bicarbonate transport (GO:0015701)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)	p.Y564Y(2)|p.Y538Y(1)|p.Y540Y(1)		endometrium(4)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)	14			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCTCTGCCTACGGGTGCCTCT	0.562													c|||	2	0.000399361	0	0	5008	,	,		20256	0		0	False		,,,				2504	0.002					ENST00000230993.6																			4	Substitution - coding silent(4)	p.Y564Y(2)|p.Y538Y(1)|p.Y540Y(1)	prostate(4)	endometrium(4)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)	14						c.(1690-1692)taC>taT		solute carrier family 4, sodium bicarbonate cotransporter, member 9		T		1,3879		0,1,1939	29	30	30		1620	-2	1	5		30	0,8264		0,0,4132	no	coding-synonymous	SLC4A9	NM_031467.2		0,1,6071	TT,TC,CC		0.0,0.0258,0.0082		540/960	139744179	1,12143	1940	4132	6072	SO:0001819	synonymous_variant	83697					integral to membrane|plasma membrane	inorganic anion exchanger activity|sodium:bicarbonate symporter activity	g.chr5:139744179C>T	AF313465	CCDS47278.1, CCDS58973.1, CCDS58974.1, CCDS58975.1	5q31.3	2013-05-22			ENSG00000113073	ENSG00000113073		"Solute carriers"	11035	protein-coding gene	gene with protein product		610207				11305939	Standard	NM_031467		Approved	AE4	uc003lfk.2	Q96Q91	OTTHUMG00000163352	ENST00000230993.6:c.1692C>T	5.37:g.139744179C>T						SLC4A9_ENST00000507527.1_Silent_p.Y564Y|SLC4A9_ENST00000506545.1_Silent_p.Y540Y|SLC4A9_ENST00000432095.2_Silent_p.Y529Y|SLC4A9_ENST00000506757.2_Silent_p.Y540Y	p.Y564Y	NM_001258428.1	NP_001245357.1	Q96Q91	B3A4_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		11	1727	+			564			Membrane (anion exchange).		B7ZL63|D3DQD4|D3DQD5|D3DQD6|E9PDK1|Q96RM5|Q9BXF2|Q9BXN3	Silent	SNP	ENST00000230993.6	37	c.1692C>T	CCDS58973.1																																																																																				0.562	SLC4A9-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000372823.1	NM_031467		5	15	0	0	0	0.217242	0	5	15					T	139744179	C	T	139744179	2	4	32	1	0	0	0	0	0	0	0	1	14660	547	19	1		1	SLC4A9	5	139744179	Silent	SNP	C	TCGA-CH-5766-01A-11D-1576-08	65727921	139744179	41171081	21	1587											
SYNE1	23345	broad.mit.edu	37	chr6	152558076	152558076	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gctggtcctcatccagatggGaccacgtctagaaacacaac	12	7	9	13	1	2	2	1	0	1	2	4	3	4	3	3	2	2	1	3	2	3	1			TCGA-CH-5766-01A-11D-1576-08	TCGA-CH-5766-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4a89263-a535-44dc-b2d4-86405c5a3191	8190fde9-3acf-40d4-90c8-2344c571c55e	g.chr6:152558076G>A	ENST00000367255.5	-	109	20676	c.20075C>T	c.(20074-20076)tCc>tTc	p.S6692F	SYNE1_ENST00000341594.5_Missense_Mutation_p.S6304F|SYNE1_ENST00000265368.4_Missense_Mutation_p.S6692F|SYNE1_ENST00000423061.1_Missense_Mutation_p.S6621F|SYNE1_ENST00000448038.1_Missense_Mutation_p.S6621F|SYNE1_ENST00000356820.4_Missense_Mutation_p.S1216F	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	6692					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)	p.S6692F(3)		NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		ATCCAGATGGGACCACGTCTA	0.522										HNSCC(10;0.0054)																												ENST00000367255.5																			3	Substitution - Missense(3)	p.S6692F(3)	prostate(3)	NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524						c.(20074-20076)tCc>tTc		spectrin repeat containing, nuclear envelope 1							80	63	69					6																	152558076		2203	4300	6503	SO:0001583	missense	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152558076G>A	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"myocyte nuclear envelope protein 1", "nuclear envelope spectrin repeat-1"	608441	"chromosome 6 open reading frame 98"	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.20075C>T	6.37:g.152558076G>A	ENSP00000356224:p.Ser6692Phe	HNSCC(10;0.0054)				SYNE1_ENST00000341594.5_Missense_Mutation_p.S6304F|SYNE1_ENST00000448038.1_Missense_Mutation_p.S6621F|SYNE1_ENST00000265368.4_Missense_Mutation_p.S6692F|SYNE1_ENST00000356820.4_Missense_Mutation_p.S1216F|SYNE1_ENST00000423061.1_Missense_Mutation_p.S6621F	p.S6692F	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	109	20676	-		Ovarian(120;0.0955)	6692					E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	c.20075C>T	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	G	15.10	2.732363	0.48939	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000356820	T;T;T;T;T;T	0.34275	1.37;1.37;1.37;1.37;1.37;1.37	5.48	5.48	0.80851	.	0.365577	0.24206	N	0.040571	T	0.35624	0.0938	L	0.59436	1.845	0.25065	N	0.991037	P;P;D	0.56035	0.911;0.911;0.974	P;P;P	0.57620	0.595;0.595;0.824	T	0.27536	-1.0071	10	0.62326	D	0.03	.	9.6301	0.39774	0.1609:0.0:0.8391:0.0	.	6692;6692;6621	Q8NF91;E7EQI5;Q8NF91-4	SYNE1_HUMAN;.;.	F	6692;6621;6692;6621;6304;1216	ENSP00000356224:S6692F;ENSP00000396024:S6621F;ENSP00000265368:S6692F;ENSP00000390975:S6621F;ENSP00000341887:S6304F;ENSP00000349276:S1216F	ENSP00000265368:S6692F	S	-	2	0	SYNE1	152599769	1.000000	0.71417	0.761000	0.31378	0.356000	0.29392	3.863000	0.56016	2.567000	0.86603	0.655000	0.94253	TCC		0.522	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		6	70	0	0	0	0.248553	0	6	70					A	152558076	G	A	152558076	3	1	32	1	0	0	0	0	1	0	0	0	15442	1174	41	3	6543	3	SYNE1	6	152558076	Missense_Mutation	SNP	G	TCGA-CH-5766-01A-11D-1576-08		152558076	18556991	22	1588											
OR2AE1	81392	broad.mit.edu	37	chr7	99474292	99474292	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gatgacagatggcaacatagCggtcataggacatgacagct	14	7	12	8	1	1	3	1	2	0	1	1	5	1	4	0	3	3	2	0	3	3	2	rs201739836		TCGA-CH-5766-01A-11D-1576-08	TCGA-CH-5766-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4a89263-a535-44dc-b2d4-86405c5a3191	8190fde9-3acf-40d4-90c8-2344c571c55e	g.chr7:99474292C>T	ENST00000316368.2	-	1	388	c.365G>A	c.(364-366)cGc>cAc	p.R122H		NM_001005276.1	NP_001005276.1	Q8NHA4	O2AE1_HUMAN	olfactory receptor, family 2, subfamily AE, member 1	122						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R122H(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|prostate(2)	11	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)					GGCAACATAGCGGTCATAGGA	0.488																																						ENST00000316368.2																			1	Substitution - Missense(1)	p.R122H(1)	prostate(1)	breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|prostate(2)	11						c.(364-366)cGc>cAc		olfactory receptor, family 2, subfamily AE, member 1		C	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	126	114	118		365	2.7	1	7		118	1,8599	1.2+/-3.3	0,1,4299	yes	missense	OR2AE1	NM_001005276.1	29	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	probably-damaging	122/324	99474292	2,13004	2203	4300	6503	SO:0001583	missense	81392				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr7:99474292C>T	AC011904	CCDS34696.1	7q22.1	2014-02-19	2002-02-28		ENSG00000244623	ENSG00000244623		"GPCR / Class A : Olfactory receptors"	15087	protein-coding gene	gene with protein product			"olfactory receptor, family 2, subfamily AE, member 2"	OR2AE2			Standard	NM_001005276		Approved		uc003usc.1	Q8NHA4	OTTHUMG00000156650	ENST00000316368.2:c.365G>A	7.37:g.99474292C>T	ENSP00000313936:p.Arg122His						p.R122H	NM_001005276.1	NP_001005276.1	Q8NHA4	O2AE1_HUMAN			1	388	-	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)		122					B2RPD2	Missense_Mutation	SNP	ENST00000316368.2	37	c.365G>A	CCDS34696.1	.	.	.	.	.	.	.	.	.	.	C	16.74	3.206729	0.58343	2.27E-4	1.16E-4	ENSG00000244623	ENST00000316368	T	0.77489	-1.1	3.63	2.73	0.32206	GPCR, rhodopsin-like superfamily (1);	0.000000	0.37053	N	0.002278	D	0.88636	0.6490	M	0.91249	3.19	0.28789	N	0.899402	D	0.89917	1.0	D	0.78314	0.991	T	0.82928	-0.0214	10	0.66056	D	0.02	.	10.5645	0.45165	0.1947:0.8053:0.0:0.0	.	122	Q8NHA4	O2AE1_HUMAN	H	122	ENSP00000313936:R122H	ENSP00000313936:R122H	R	-	2	0	OR2AE1	99312228	1.000000	0.71417	0.996000	0.52242	0.532000	0.34746	6.849000	0.75414	1.082000	0.41137	-0.458000	0.05436	CGC		0.488	OR2AE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345053.1			30	82	0	0	0	0.706142	0	30	82					T	99474292	C	T	99474292	3	4	32	1	0	0	0	0	1	0	0	0	10983	768	27	1	610	1	OR2AE1	7	99474292	Missense_Mutation	SNP	C	TCGA-CH-5766-01A-11D-1576-08		99474292	59664371	23	1589											
ZAN	7455	broad.mit.edu	37	chr7	100348486	100348486	+	RNA	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tactggcagaacacctccgtCaccgtcccctcaggacacca	10	6	7	18	2	2	1	2	0	0	1	4	2	4	2	6	2	2	1	6	2	2	1			TCGA-CH-5766-01A-11D-1576-08	TCGA-CH-5766-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4a89263-a535-44dc-b2d4-86405c5a3191	8190fde9-3acf-40d4-90c8-2344c571c55e	g.chr7:100348486C>A	ENST00000348028.3	+	0	1653				ZAN_ENST00000449052.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000542585.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000546292.1_RNA			Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida (GO:0007339)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.V496V(3)		NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			ACACCTCCGTCACCGTCCCCT	0.642																																						ENST00000542585.1																			3	Substitution - coding silent(3)	p.V496V(3)	prostate(3)	NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139								zonadhesin (gene/pseudogene)							32	33	33					7																	100348486		1974	4140	6114			7455				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane		g.chr7:100348486C>A	U83191		7q22.1	2013-10-10	2013-10-10		ENSG00000146839	ENSG00000146839			12857	protein-coding gene	gene with protein product		602372	"zonadhesin"			9799793, 17033959	Standard	NM_003386		Approved		uc003uwk.3	Q9Y493	OTTHUMG00000157037		7.37:g.100348486C>A						ZAN_ENST00000546292.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000349350.6_RNA		NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	STAD - Stomach adenocarcinoma(171;0.19)		0	1636	+	Lung NSC(181;0.041)|all_lung(186;0.0581)							A0FKC8|D6W5W4|O00218|Q96L85|Q96L86|Q96L87|Q96L88|Q96L89|Q96L90|Q9BXN9|Q9BZ83|Q9BZ84|Q9BZ85|Q9BZ86|Q9BZ87|Q9BZ88	RNA	SNP	ENST00000348028.3	37																																																																																						0.642	ZAN-006	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000347214.1	NM_003386		7	41	1	0	0.00307968	0.27861	0.00355348	7	41					A	100348486	C	A	100348486	1	1	32	0	1	0	0	0	0	0	0	0	17510	813	29	5		5	ZAN	7	100348486	RNA	SNP	C	TCGA-CH-5766-01A-11D-1576-08	874194	100348486	58790177	24	1590											
ZFPM2	23414	broad.mit.edu	37	chr8	106814510	106814510	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctgccatgcagagaaccatgCgcacacgcaagcgcagaaag	14	3	11	13	3	0	2	0	0	0	2	0	3	0	2	2	0	5	4	2	0	3	0			TCGA-CH-5766-01A-11D-1576-08	TCGA-CH-5766-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4a89263-a535-44dc-b2d4-86405c5a3191	8190fde9-3acf-40d4-90c8-2344c571c55e	g.chr8:106814510C>T	ENST00000407775.2	+	8	2450	c.2200C>T	c.(2200-2202)Cgc>Tgc	p.R734C	RP11-152P17.2_ENST00000520594.1_RNA|RP11-152P17.2_ENST00000518932.1_RNA|ZFPM2_ENST00000522296.1_3'UTR|RP11-152P17.2_ENST00000520433.1_RNA|RP11-152P17.2_ENST00000509144.2_RNA|ZFPM2_ENST00000517361.1_Missense_Mutation_p.R602C|ZFPM2_ENST00000520492.1_Missense_Mutation_p.R602C|RP11-152P17.2_ENST00000524045.2_RNA|RP11-152P17.2_ENST00000521622.1_RNA|ZFPM2_ENST00000378472.4_Missense_Mutation_p.R465C	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	zinc finger protein, FOG family member 2	734					blood coagulation (GO:0007596)|embryonic organ development (GO:0048568)|gonadal mesoderm development (GO:0007506)|in utero embryonic development (GO:0001701)|lung development (GO:0030324)|negative regulation of cell death (GO:0060548)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of female gonad development (GO:2000195)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract septum morphogenesis (GO:0003148)|positive regulation of male gonad development (GO:2000020)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|right ventricular cardiac muscle tissue morphogenesis (GO:0003221)|vasculogenesis (GO:0001570)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|nucleic acid binding transcription factor activity (GO:0001071)|RNA polymerase II transcription coactivator activity (GO:0001105)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			GAGAACCATGCGCACACGCAA	0.507																																						ENST00000407775.2																			0				NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99						c.(2200-2202)Cgc>Tgc		zinc finger protein, FOG family member 2							50	49	50					8																	106814510		2097	4223	6320	SO:0001583	missense	23414				blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding	g.chr8:106814510C>T	AF119334	CCDS47908.1	8q23	2013-01-10	2012-11-27		ENSG00000169946	ENSG00000169946		"Zinc fingers, C2H2-type", "Zinc fingers, C2HC-type containing"	16700	protein-coding gene	gene with protein product		603693	"zinc finger protein, multitype 2"			9927675, 10438528	Standard	NM_012082		Approved	FOG2, hFOG-2, ZNF89B, ZC2HC11B	uc003ymd.3	Q8WW38	OTTHUMG00000164818	ENST00000407775.2:c.2200C>T	8.37:g.106814510C>T	ENSP00000384179:p.Arg734Cys					RP11-152P17.2_ENST00000524045.2_RNA|RP11-152P17.2_ENST00000520433.1_RNA|ZFPM2_ENST00000378472.4_Missense_Mutation_p.R465C|RP11-152P17.2_ENST00000509144.2_RNA|ZFPM2_ENST00000520492.1_Missense_Mutation_p.R602C|RP11-152P17.2_ENST00000520594.1_RNA|ZFPM2_ENST00000522296.1_3'UTR|ZFPM2_ENST00000517361.1_Missense_Mutation_p.R602C|RP11-152P17.2_ENST00000521622.1_RNA|RP11-152P17.2_ENST00000518932.1_RNA	p.R734C	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)		8	2450	+			734					Q32MA6|Q9NPL7|Q9NPS4|Q9UNI5	Missense_Mutation	SNP	ENST00000407775.2	37	c.2200C>T	CCDS47908.1	.	.	.	.	.	.	.	.	.	.	C	19.07	3.756593	0.69648	.	.	ENSG00000169946	ENST00000407775;ENST00000520492;ENST00000517361;ENST00000378472	T;T;T;T	0.55052	0.54;1.12;1.12;2.35	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	T	0.73830	0.3637	M	0.72118	2.19	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.75065	-0.3449	10	0.72032	D	0.01	.	19.88	0.96892	0.0:1.0:0.0:0.0	.	734	Q8WW38	FOG2_HUMAN	C	734;602;602;465	ENSP00000384179:R734C;ENSP00000430757:R602C;ENSP00000428720:R602C;ENSP00000367733:R465C	ENSP00000367733:R465C	R	+	1	0	ZFPM2	106883686	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.244000	0.72391	2.708000	0.92522	0.561000	0.74099	CGC		0.507	ZFPM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380614.1			4	63	0	0	0	0.184627	0	4	63					T	106814510	C	T	106814510	3	4	32	1	0	0	0	0	1	0	0	0	17655	768	27	1	2230	1	ZFPM2	8	106814510	Missense_Mutation	SNP	C	TCGA-CH-5766-01A-11D-1576-08		106814510	39549512	25	1591											
CENPP	401541	broad.mit.edu	37	chr9	95108042	95108042	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aataatggagcccacagaatGctcagaattaagtgaatttg	16	10	9	6	0	1	3	1	1	0	2	1	4	1	4	1	1	2	1	1	1	6	3			TCGA-CH-5766-01A-11D-1576-08	TCGA-CH-5766-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4a89263-a535-44dc-b2d4-86405c5a3191	8190fde9-3acf-40d4-90c8-2344c571c55e	g.chr9:95108042G>T	ENST00000375587.3	+	4	955	c.440G>T	c.(439-441)tGc>tTc	p.C147F		NM_001012267.1	NP_001012267.1	Q6IPU0	CENPP_HUMAN	centromere protein P	147					CENP-A containing nucleosome assembly (GO:0034080)|mitotic cell cycle (GO:0000278)|nucleosome assembly (GO:0006334)	chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)		p.C147F(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|skin(1)	16						CCCACAGAATGCTCAGAATTA	0.289																																						ENST00000375587.3																			1	Substitution - Missense(1)	p.C147F(1)	prostate(1)	endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|skin(1)	16						c.(439-441)tGc>tTc		centromere protein P							62	63	62					9																	95108042		2203	4294	6497	SO:0001583	missense	401541				CenH3-containing nucleosome assembly at centromere|mitotic prometaphase	chromosome, centromeric region|cytosol|nucleoplasm		g.chr9:95108042G>T	AK091247	CCDS35063.1, CCDS69618.1	9q22.31	2013-11-05			ENSG00000188312	ENSG00000188312			32933	protein-coding gene	gene with protein product		611505				16622419, 16622420	Standard	NM_001286969		Approved	RP11-19J3.3, CENP-P	uc004arz.3	Q6IPU0	OTTHUMG00000020228	ENST00000375587.3:c.440G>T	9.37:g.95108042G>T	ENSP00000364737:p.Cys147Phe						p.C147F	NM_001012267.1	NP_001012267.1	Q6IPU0	CENPP_HUMAN			4	955	+			147					B3KRA5|B3KS17|Q5T9F8|Q5T9F9	Missense_Mutation	SNP	ENST00000375587.3	37	c.440G>T	CCDS35063.1	.	.	.	.	.	.	.	.	.	.	G	2.138	-0.397496	0.04899	.	.	ENSG00000188312	ENST00000375587;ENST00000402724	.	.	.	3.81	-0.437	0.12272	.	0.467813	0.19418	N	0.114778	T	0.21550	0.0519	N	0.08118	0	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.07947	-1.0746	9	0.10377	T	0.69	.	3.0063	0.06030	0.5173:0.0:0.1312:0.3515	.	147;106	Q6IPU0;Q7Z672	CENPP_HUMAN;.	F	147;106	.	ENSP00000364737:C147F	C	+	2	0	CENPP	94147863	0.998000	0.40836	0.923000	0.36655	0.923000	0.55619	1.300000	0.33436	-0.065000	0.13021	-0.291000	0.09656	TGC		0.289	CENPP-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053098.1	NM_001012267		16	56	1	0	0.006122	0.539581	0.00693057	16	56					T	95108042	G	T	95108042	3	4	32	1	0	0	0	0	1	0	0	0	3240	1319	46	5	454	5	CENPP	9	95108042	Missense_Mutation	SNP	G	TCGA-CH-5766-01A-11D-1576-08		95108042	46105389	26	1592											
KCNT1	57582	broad.mit.edu	37	chr9	138651633	138651633	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgggctacggtgacgtcacGcccaagatctggccatcgca	8	7	13	13	4	2	2	1	1	1	1	3	2	2	2	2	3	1	2	2	3	2	1			TCGA-CH-5766-01A-11D-1576-08	TCGA-CH-5766-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4a89263-a535-44dc-b2d4-86405c5a3191	8190fde9-3acf-40d4-90c8-2344c571c55e	g.chr9:138651633G>A	ENST00000263604.3	+	11	906	c.906G>A	c.(904-906)acG>acA	p.T302T	KCNT1_ENST00000298480.5_Silent_p.T321T|KCNT1_ENST00000371757.2_Silent_p.T321T|KCNT1_ENST00000488444.2_Silent_p.T302T|KCNT1_ENST00000486577.2_Silent_p.T282T|KCNT1_ENST00000490355.2_Silent_p.T302T|KCNT1_ENST00000491806.2_Silent_p.T288T|KCNT1_ENST00000487664.1_Silent_p.T276T			Q5JUK3	KCNT1_HUMAN	potassium channel, subfamily T, member 1	302					potassium ion transmembrane transport (GO:0071805)	voltage-gated potassium channel complex (GO:0008076)	calcium-activated potassium channel activity (GO:0015269)|voltage-gated potassium channel activity (GO:0005249)	p.T321T(1)		breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05)		GTGACGTCACGCCCAAGATCT	0.642																																						ENST00000298480.5																			1	Substitution - coding silent(1)	p.T321T(1)	prostate(1)	breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						c.(961-963)acG>acA		potassium channel, subfamily T, member 1							136	97	110					9																	138651633		2203	4300	6503	SO:0001819	synonymous_variant	57582					membrane	binding|calcium-activated potassium channel activity	g.chr9:138651633G>A	AB037843	CCDS35175.1, CCDS35175.2, CCDS65188.1	9q34.3	2012-07-05			ENSG00000107147	ENSG00000107147		"Potassium channels", "Voltage-gated ion channels / Potassium channels, calcium-activated"	18865	protein-coding gene	gene with protein product		608167				10718198, 16382103	Standard	NM_020822		Approved	KCa4.1, KIAA1422	uc011mdq.2	Q5JUK3	OTTHUMG00000020917	ENST00000263604.3:c.906G>A	9.37:g.138651633G>A						KCNT1_ENST00000263604.3_Silent_p.T302T|KCNT1_ENST00000371757.2_Silent_p.T321T|KCNT1_ENST00000491806.2_Silent_p.T288T|KCNT1_ENST00000490355.2_Silent_p.T302T|KCNT1_ENST00000488444.2_Silent_p.T302T|KCNT1_ENST00000487664.1_Silent_p.T276T|KCNT1_ENST00000486577.2_Silent_p.T282T	p.T321T			B7ZVY4	B7ZVY4_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05)	11	1037	+		Myeloproliferative disorder(178;0.0821)	321					B3KXF7|B7ZVY4|B9EGP2|G5E9V0|Q9P2C5	Silent	SNP	ENST00000263604.3	37	c.963G>A																																																																																					0.642	KCNT1-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_020822		26	63	0	0	0	0.681144	0	26	63					A	138651633	G	A	138651633	2	1	32	1	0	0	0	0	0	0	0	1	8091	1074	38	1		1	KCNT1	9	138651633	Silent	SNP	G	TCGA-CH-5766-01A-11D-1576-08	43543591	138651633	2561798	27	1593											
LSP1	4046	broad.mit.edu	37	chr11	1904667	1904667	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aggcccggcctgcatgcctaCgaaaaggaggacagtgatga	12	5	14	10	2	0	2	0	2	0	0	0	5	0	4	3	4	3	1	3	4	3	1	rs577198149		TCGA-CH-5766-01A-11D-1576-08	TCGA-CH-5766-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4a89263-a535-44dc-b2d4-86405c5a3191	8190fde9-3acf-40d4-90c8-2344c571c55e	g.chr11:1904667C>T	ENST00000311604.3	+	4	550	c.375C>T	c.(373-375)taC>taT	p.Y125Y	LSP1_ENST00000485341.1_3'UTR|LSP1_ENST00000381775.1_Silent_p.Y253Y|LSP1_ENST00000406638.2_Silent_p.Y63Y|LSP1_ENST00000405957.2_Silent_p.Y63Y	NM_002339.2	NP_002330.1	P33241	LSP1_HUMAN	lymphocyte-specific protein 1	125					cellular component movement (GO:0006928)|cellular defense response (GO:0006968)|chemotaxis (GO:0006935)	actin cytoskeleton (GO:0015629)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|signal transducer activity (GO:0004871)	p.Y63Y(1)|p.Y125Y(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|prostate(1)|skin(1)	16		all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00147)|Lung(200;0.0729)|LUSC - Lung squamous cell carcinoma(625;0.0856)		TGCATGCCTACGAAAAGGAGG	0.587													C|||	1	0.000199681	0	0	5008	,	,		20638	0.001		0	False		,,,				2504	0					ENST00000406638.2																			2	Substitution - coding silent(2)	p.Y63Y(1)|p.Y125Y(1)	prostate(2)	haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|prostate(1)|skin(1)	16						c.(187-189)taC>taT		lymphocyte-specific protein 1							79	80	80					11																	1904667		2202	4299	6501	SO:0001819	synonymous_variant	4046				cellular component movement|cellular defense response	actin cytoskeleton|Golgi apparatus|plasma membrane	actin binding|signal transducer activity	g.chr11:1904667C>T	M33552	CCDS31334.1, CCDS31335.1, CCDS58110.1	11p15.5	2008-02-05			ENSG00000130592	ENSG00000130592			6707	protein-coding gene	gene with protein product		153432				2174784	Standard	NM_001242932		Approved	WP34	uc001luj.3	P33241	OTTHUMG00000012252	ENST00000311604.3:c.375C>T	11.37:g.1904667C>T						LSP1_ENST00000311604.3_Silent_p.Y125Y|LSP1_ENST00000485341.1_3'UTR|LSP1_ENST00000381775.1_Silent_p.Y253Y|LSP1_ENST00000405957.2_Silent_p.Y63Y	p.Y63Y	NM_001013254.1|NM_001013255.1	NP_001013272.1|NP_001013273.1	P33241	LSP1_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00147)|Lung(200;0.0729)|LUSC - Lung squamous cell carcinoma(625;0.0856)	4	1491	+		all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	125					B3KPP1|B3KRR6|E9PBV6|E9PFP3|Q16096|Q53H48|Q6FHM3|Q9BUY8	Silent	SNP	ENST00000311604.3	37	c.189C>T	CCDS31334.1																																																																																				0.587	LSP1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000034045.3	NM_002339		19	70	0	0	0	0.575678	0	19	70					T	1904667	C	T	1904667	2	4	32	1	0	0	0	0	0	0	0	1	9063	547	19	1		1	LSP1	11	1904667	Silent	SNP	C	TCGA-CH-5766-01A-11D-1576-08		1904667	133101849	28	1594											
CTSC	1075	broad.mit.edu	37	chr11	88068245	88068245	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caccactacttttttttcttGtggtcctaaagaaaaaaaaa	15	14	4	8	0	1	1	0	0	1	1	2	1	2	1	2	1	1	0	2	1	7	7			TCGA-CH-5766-01A-11D-1576-08	TCGA-CH-5766-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4a89263-a535-44dc-b2d4-86405c5a3191	8190fde9-3acf-40d4-90c8-2344c571c55e	g.chr11:88068245G>C	ENST00000227266.5	-	2	292	c.178C>G	c.(178-180)Caa>Gaa	p.Q60E	CTSC_ENST00000529974.1_Missense_Mutation_p.Q60E|CTSC_ENST00000393301.4_5'UTR|CTSC_ENST00000524463.1_Missense_Mutation_p.Q60E	NM_001814.4	NP_001805	P53634	CATC_HUMAN	cathepsin C	60					aging (GO:0007568)|immune response (GO:0006955)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of proteolysis involved in cellular protein catabolic process (GO:1903052)|proteolysis (GO:0006508)|response to organic substance (GO:0010033)|T cell mediated cytotoxicity (GO:0001913)	endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|lysosome (GO:0005764)|membrane (GO:0016020)	chaperone binding (GO:0051087)|chloride ion binding (GO:0031404)|cysteine-type peptidase activity (GO:0008234)|peptidase activator activity involved in apoptotic process (GO:0016505)|phosphatase binding (GO:0019902)|serine-type endopeptidase activity (GO:0004252)	p.Q60E(1)		large_intestine(7)|lung(8)|ovary(2)|prostate(3)|skin(2)	22		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				TTTTTTTCTTGTGGTCCTAAA	0.353																																						ENST00000524463.1																			1	Substitution - Missense(1)	p.Q60E(1)	prostate(1)	large_intestine(7)|lung(8)|ovary(2)|prostate(3)|skin(2)	22						c.(178-180)Caa>Gaa		cathepsin C							68	69	69					11																	88068245		2201	4299	6500	SO:0001583	missense	1075				immune response	lysosome	cysteine-type endopeptidase activity	g.chr11:88068245G>C	AK223038	CCDS8282.1, CCDS31654.1, CCDS44693.1	11q14.2	2014-09-17			ENSG00000109861	ENSG00000109861	3.4.14.1	"Cathepsins"	2528	protein-coding gene	gene with protein product	"dipeptidyl peptidase 1"	602365		PLS, PALS		7649281, 9092576	Standard	NM_148170		Approved	DPP1	uc001pck.4	P53634	OTTHUMG00000167290	ENST00000227266.5:c.178C>G	11.37:g.88068245G>C	ENSP00000227266:p.Gln60Glu					CTSC_ENST00000227266.5_Missense_Mutation_p.Q60E|CTSC_ENST00000529974.1_Missense_Mutation_p.Q60E|CTSC_ENST00000393301.4_5'UTR	p.Q60E	NM_001114173.1|NM_148170.3	NP_001107645.1|NP_680475.1	P53634	CATC_HUMAN			2	266	-		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)	60					A8K7V2|B5MDD5|Q2HIY8|Q53G93|Q71E75|Q71E76|Q7M4N9|Q7Z3G7|Q7Z5U7|Q8WY99|Q8WYA7|Q8WYA8	Missense_Mutation	SNP	ENST00000227266.5	37	c.178C>G	CCDS8282.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	1.202|1.202	-0.632225|-0.632225	0.03584|0.03584	.|.	.|.	ENSG00000109861|ENSG00000109861	ENST00000527018|ENST00000393302;ENST00000227266;ENST00000524463;ENST00000529974	.|D;D;D	.|0.87729	.|-2.29;-2.29;-2.29	5.84|5.84	2.81|2.81	0.32909|0.32909	.|Cathepsin C exclusion (1);	.|0.489264	.|0.21375	.|N	.|0.075568	T|T	0.65037|0.65037	0.2653|0.2653	N|N	0.01352|0.01352	-0.895|-0.895	0.09310|0.09310	N|N	1|1	.|B;B;B	.|0.12630	.|0.004;0.006;0.0	.|B;B;B	.|0.20184	.|0.006;0.028;0.0	T|T	0.53457|0.53457	-0.8436|-0.8436	5|9	.|.	.|.	.|.	.|.	10.064|10.064	0.42292|0.42292	0.0:0.4057:0.4459:0.1484|0.0:0.4057:0.4459:0.1484	.|.	.|60;60;60	.|Q2HIY8;P53634-2;P53634	.|.;.;CATC_HUMAN	Q|E	16|43;60;60;60	.|ENSP00000227266:Q60E;ENSP00000432541:Q60E;ENSP00000433539:Q60E	.|.	H|Q	-|-	3|1	2|0	CTSC|CTSC	87707893|87707893	0.992000|0.992000	0.36948|0.36948	0.922000|0.922000	0.36590|0.36590	0.875000|0.875000	0.50365|0.50365	2.353000|2.353000	0.44089|0.44089	0.306000|0.306000	0.22856|0.22856	0.655000|0.655000	0.94253|0.94253	CAC|CAA		0.353	CTSC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394019.2	NM_001814		10	81	0	0	0	0.361761	0	10	81					C	88068245	G	C	88068245	3	2	32	1	0	0	0	0	1	0	0	0	4031	1386	48	5	1368	5	CTSC	11	88068245	Missense_Mutation	SNP	G	TCGA-CH-5766-01A-11D-1576-08	86163578	88068245	46938271	29	1595											
TSPAN9	10867	broad.mit.edu	37	chr12	3390977	3390977	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtggggatgtgcatcctcatCatgcaggtaagaggggcgtc	8	9	16	8	1	2	1	2	0	0	1	4	2	3	2	1	5	2	3	1	5	1	1			TCGA-CH-5766-01A-11D-1576-08	TCGA-CH-5766-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4a89263-a535-44dc-b2d4-86405c5a3191	8190fde9-3acf-40d4-90c8-2344c571c55e	g.chr12:3390977C>T	ENST00000011898.5	+	8	803	c.642C>T	c.(640-642)atC>atT	p.I214I	TSPAN9_ENST00000407263.1_Silent_p.I214I|TSPAN9_ENST00000537971.1_Silent_p.I214I	NM_006675.4	NP_006666.1	O75954	TSN9_HUMAN	tetraspanin 9	214						focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tetraspanin-enriched microdomain (GO:0097197)		p.I214I(1)		endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	11			OV - Ovarian serous cystadenocarcinoma(31;0.00153)|COAD - Colon adenocarcinoma(12;0.0831)			GCATCCTCATCATGCAGGTAA	0.587																																						ENST00000011898.5																			1	Substitution - coding silent(1)	p.I214I(1)	prostate(1)	endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	11						c.(640-642)atC>atT		tetraspanin 9							114	87	96					12																	3390977		2203	4300	6503	SO:0001819	synonymous_variant	10867					integral to plasma membrane|membrane fraction		g.chr12:3390977C>T	AF089749	CCDS8520.1	12p13.33-p13.32	2013-02-14			ENSG00000011105	ENSG00000011105		"Tetraspanins"	21640	protein-coding gene	gene with protein product		613137				10719184, 11739647	Standard	NM_006675		Approved	NET-5	uc021qtd.1	O75954	OTTHUMG00000150333	ENST00000011898.5:c.642C>T	12.37:g.3390977C>T						TSPAN9_ENST00000407263.1_Silent_p.I214I|TSPAN9_ENST00000537971.1_Silent_p.I214I	p.I214I	NM_006675.4	NP_006666.1	O75954	TSN9_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00153)|COAD - Colon adenocarcinoma(12;0.0831)		8	803	+			214					D3DUQ7|Q53FV2|Q6FGJ8	Silent	SNP	ENST00000011898.5	37	c.642C>T	CCDS8520.1																																																																																				0.587	TSPAN9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317606.2	NM_006675		16	24	0	0	0	0.520397	0	16	24					T	3390977	C	T	3390977	2	4	32	1	0	0	0	0	0	0	0	1	16651	816	29	3		3	TSPAN9	12	3390977	Silent	SNP	C	TCGA-CH-5766-01A-11D-1576-08		3390977	130460918	30	1596											
C12orf63	144535	broad.mit.edu	37	chr12	97137249	97137249	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcaaaaagcgcaggggacaCggaactgcaggctgaattct	13	5	14	9	2	1	1	0	1	1	0	1	3	1	3	0	5	3	4	0	5	4	1			TCGA-CH-5766-01A-11D-1576-08	TCGA-CH-5766-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4a89263-a535-44dc-b2d4-86405c5a3191	8190fde9-3acf-40d4-90c8-2344c571c55e	g.chr12:97137249C>T	ENST00000524981.4	+	53	7312	c.7289C>T	c.(7288-7290)aCg>aTg	p.T2430M				Q96N23	CL055_HUMAN		0								p.T855M(1)									GCAGGGGACACGGAACTGCAG	0.413																																						ENST00000524981.3																			1	Substitution - Missense(1)	p.T855M(1)	prostate(1)	breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(26)|ovary(1)|prostate(2)|skin(11)|stomach(2)	54						c.(2641-2643)aCg>aTg									96	93	94					12																	97137249		2203	4300	6503	SO:0001583	missense	0							g.chr12:97137249C>T																												ENST00000524981.4:c.7289C>T	12.37:g.97137249C>T	ENSP00000431759:p.Thr2430Met						p.T881M			Q6ZTY8	CL063_HUMAN			20	2642	+			855						Missense_Mutation	SNP	ENST00000524981.4	37	c.2642C>T		.	.	.	.	.	.	.	.	.	.	C	5.424	0.263382	0.10294	.	.	ENSG00000188596	ENST00000524981;ENST00000342887	.	.	.	5.59	-3.55	0.04639	.	0.703646	0.13677	N	0.370484	T	0.16727	0.0402	L	0.40543	1.245	0.09310	N	1	P	0.49961	0.93	B	0.40602	0.334	T	0.09862	-1.0655	9	0.48119	T	0.1	0.2844	1.1312	0.01746	0.2735:0.3467:0.1078:0.272	.	855	Q6ZTY8	CL063_HUMAN	M	2430;855	.	ENSP00000345466:T855M	T	+	2	0	C12orf63	95661380	0.000000	0.05858	0.001000	0.08648	0.292000	0.27327	-1.856000	0.01662	-0.830000	0.04262	0.462000	0.41574	ACG		0.413	C12orf55-003	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf	protein_coding	protein_coding	OTTHUMT00000395046.4			10	106	0	0	0	0.335167	0	10	106					T	97137249	C	T	97137249	3	4	32	1	0	0	0	0	1	0	0	0	1706	536	19	1	2638	1	C12orf63	12	97137249	Missense_Mutation	SNP	C	TCGA-CH-5766-01A-11D-1576-08	93746272	97137249	36714646	31	1597											
CARS2	79587	broad.mit.edu	37	chr13	111294811	111294811	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccggaccttctgccggaaccGcaccagctcgtccaccacac	8	5	8	20	4	1	0	0	0	1	0	3	2	2	2	7	2	3	2	7	2	1	1	rs200151026		TCGA-CH-5766-01A-11D-1576-08	TCGA-CH-5766-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4a89263-a535-44dc-b2d4-86405c5a3191	8190fde9-3acf-40d4-90c8-2344c571c55e	g.chr13:111294811G>A	ENST00000257347.4	-	14	1537	c.1474C>T	c.(1474-1476)Cgg>Tgg	p.R492W	CARS2_ENST00000535398.1_5'Flank	NM_024537.2	NP_078813.1	Q9HA77	SYCM_HUMAN	cysteinyl-tRNA synthetase 2, mitochondrial (putative)	492					cysteinyl-tRNA aminoacylation (GO:0006423)|gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|cysteine-tRNA ligase activity (GO:0004817)|metal ion binding (GO:0046872)	p.R492W(1)		autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(2)|prostate(4)|skin(1)	13	all_lung(23;3.61e-05)|Lung NSC(43;0.00144)|Lung SC(71;0.0753)|all_neural(89;0.077)|Medulloblastoma(90;0.148)		BRCA - Breast invasive adenocarcinoma(86;0.163)		L-Cysteine(DB00151)	TGCCGGAACCGCACCAGCTCG	0.672													G|||	1	0.000199681	8e-04	0	5008	,	,		15859	0		0	False		,,,				2504	0					ENST00000257347.4																			1	Substitution - Missense(1)	p.R492W(1)	prostate(1)	autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(2)|prostate(4)|skin(1)	13						c.(1474-1476)Cgg>Tgg		cysteinyl-tRNA synthetase 2, mitochondrial (putative)	L-Cysteine(DB00151)	G	TRP/ARG	2,4398		0,2,2198	44	41	42		1474	4.3	0.9	13		42	0,8596		0,0,4298	yes	missense	CARS2	NM_024537.2	101	0,2,6496	AA,AG,GG		0.0,0.0455,0.0154	probably-damaging	492/565	111294811	2,12994	2200	4298	6498	SO:0001583	missense	79587				cysteinyl-tRNA aminoacylation	cytosol|mitochondrial matrix	ATP binding|cysteine-tRNA ligase activity|metal ion binding	g.chr13:111294811G>A	BC007220	CCDS9514.1	13q34	2011-07-01	2007-02-22		ENSG00000134905	ENSG00000134905	6.1.1.16	"Aminoacyl tRNA synthetases / Class I"	25695	protein-coding gene	gene with protein product	"cysteine tRNA ligase 2, mitochondrial (putative)"	612800				15779907	Standard	NM_024537		Approved	FLJ12118	uc001vrd.2	Q9HA77	OTTHUMG00000017347	ENST00000257347.4:c.1474C>T	13.37:g.111294811G>A	ENSP00000257347:p.Arg492Trp						p.R492W	NM_024537.2	NP_078813.1	Q9HA77	SYCM_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.163)		14	1537	-	all_lung(23;3.61e-05)|Lung NSC(43;0.00144)|Lung SC(71;0.0753)|all_neural(89;0.077)|Medulloblastoma(90;0.148)		492					Q8NI84|Q96IV4	Missense_Mutation	SNP	ENST00000257347.4	37	c.1474C>T	CCDS9514.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	18.83	3.706414	0.68615	4.55E-4	0.0	ENSG00000134905	ENST00000257347	T	0.44482	0.92	5.12	4.27	0.50696	Aminoacyl-tRNA synthetase, class 1a, anticodon-binding (1);	0.682388	0.14807	N	0.297287	T	0.47266	0.1436	M	0.67953	2.075	0.20074	N	0.999931	D	0.65815	0.995	P	0.49502	0.613	T	0.44251	-0.9340	10	0.72032	D	0.01	-6.6474	7.0274	0.24948	0.0888:0.0:0.6958:0.2155	.	492	Q9HA77	SYCM_HUMAN	W	492	ENSP00000257347:R492W	ENSP00000257347:R492W	R	-	1	2	CARS2	110092812	0.001000	0.12720	0.940000	0.37924	0.873000	0.50193	1.084000	0.30828	1.157000	0.42530	0.561000	0.74099	CGG		0.672	CARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045772.3	NM_024537		3	16	0	0	0	0.115264	0	3	16					A	111294811	G	A	111294811	3	1	32	1	0	0	0	0	1	0	0	0	2658	1086	38	1	228	1	CARS2	13	111294811	Missense_Mutation	SNP	G	TCGA-CH-5766-01A-11D-1576-08		111294811	3875067	32	1598											
SIX1	6495	broad.mit.edu	37	chr14	61115426	61115426	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cctgggtggtggtgaggccgGtggcctcggccagctcccgc	2	7	18	14	3	0	1	0	1	0	0	2	1	1	1	5	7	1	1	5	7	0	0			TCGA-CH-5766-01A-11D-1576-08	TCGA-CH-5766-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4a89263-a535-44dc-b2d4-86405c5a3191	8190fde9-3acf-40d4-90c8-2344c571c55e	g.chr14:61115426G>C	ENST00000247182.6	-	1	754	c.482C>G	c.(481-483)aCc>aGc	p.T161S	SIX1_ENST00000554986.1_Intron	NM_005982.3	NP_005973.1	Q15475	SIX1_HUMAN	SIX homeobox 1	161					aorta morphogenesis (GO:0035909)|apoptotic process (GO:0006915)|branching involved in ureteric bud morphogenesis (GO:0001658)|cochlea morphogenesis (GO:0090103)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic skeletal system morphogenesis (GO:0048704)|epithelial cell differentiation (GO:0030855)|facial nerve morphogenesis (GO:0021610)|generation of neurons (GO:0048699)|inner ear development (GO:0048839)|inner ear morphogenesis (GO:0042472)|kidney development (GO:0001822)|mesonephric tubule formation (GO:0072172)|metanephric mesenchyme development (GO:0072075)|middle ear morphogenesis (GO:0042474)|myoblast migration (GO:0051451)|negative regulation of branching involved in ureteric bud morphogenesis (GO:0090191)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron fate specification (GO:0048665)|organ induction (GO:0001759)|otic vesicle development (GO:0071599)|outflow tract morphogenesis (GO:0003151)|pattern specification process (GO:0007389)|pharyngeal system development (GO:0060037)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of mesenchymal cell proliferation involved in ureter development (GO:2000729)|positive regulation of secondary heart field cardioblast proliferation (GO:0072513)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of ureteric bud formation (GO:0072107)|protein localization to nucleus (GO:0034504)|regulation of branch elongation involved in ureteric bud branching (GO:0072095)|regulation of neuron differentiation (GO:0045664)|regulation of protein localization (GO:0032880)|regulation of synaptic growth at neuromuscular junction (GO:0008582)|regulation of transcription, DNA-templated (GO:0006355)|sensory perception of sound (GO:0007605)|skeletal muscle tissue development (GO:0007519)|thymus development (GO:0048538)|thyroid gland development (GO:0030878)|transcription, DNA-templated (GO:0006351)|ureter smooth muscle cell differentiation (GO:0072193)|ureteric bud development (GO:0001657)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)	13				OV - Ovarian serous cystadenocarcinoma(108;0.0201)		GGTGAGGCCGGTGGCCTCGGC	0.647																																						ENST00000247182.6																			0				breast(2)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)	13						c.(481-483)aCc>aGc		SIX homeobox 1							42	41	42					14																	61115426		2203	4300	6503	SO:0001583	missense	6495				branching involved in ureteric bud morphogenesis|embryonic cranial skeleton morphogenesis|epithelial cell differentiation|inner ear morphogenesis|mesonephric tubule formation|metanephric mesenchyme development|myoblast migration|negative regulation of neuron apoptosis|organ induction|pattern specification process|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of ureteric bud formation|protein localization to nucleus|regulation of branch elongation involved in ureteric bud branching|regulation of neuron differentiation|skeletal muscle tissue development|thymus development|thyroid gland development	nucleolus|transcription factor complex	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	g.chr14:61115426G>C	X91868	CCDS9748.1	14q23.1	2011-06-20	2007-07-13		ENSG00000126778	ENSG00000126778		"Homeoboxes / SINE class"	10887	protein-coding gene	gene with protein product		601205	"sine oculis homeobox (Drosophila) homolog 1", "sine oculis homeobox homolog 1 (Drosophila)", "deafness, autosomal dominant 23"	DFNA23		8617500, 15141091	Standard	NM_005982		Approved		uc001xfb.4	Q15475	OTTHUMG00000140334	ENST00000247182.6:c.482C>G	14.37:g.61115426G>C	ENSP00000247182:p.Thr161Ser					SIX1_ENST00000554986.1_Intron	p.T161S	NM_005982.3	NP_005973.1	Q15475	SIX1_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0201)	1	754	-			161					Q53Y16|Q96H64	Missense_Mutation	SNP	ENST00000247182.6	37	c.482C>G	CCDS9748.1	.	.	.	.	.	.	.	.	.	.	G	29.7	5.026201	0.93518	.	.	ENSG00000126778	ENST00000247182	D	0.96427	-4.01	5.97	5.07	0.68467	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);Homeobox, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.96965	0.9009	L	0.58302	1.8	0.80722	D	1	D	0.56287	0.975	P	0.61070	0.883	D	0.96895	0.9656	10	0.87932	D	0	-19.5079	14.2847	0.66238	0.0715:0.0:0.9285:0.0	.	161	Q15475	SIX1_HUMAN	S	161	ENSP00000247182:T161S	ENSP00000247182:T161S	T	-	2	0	SIX1	60185179	1.000000	0.71417	0.998000	0.56505	0.940000	0.58332	9.651000	0.98493	2.828000	0.97474	0.655000	0.94253	ACC		0.647	SIX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276951.3			6	78	0	0	0	0.217242	0	6	78					C	61115426	G	C	61115426	3	2	32	1	0	0	0	0	1	0	0	0	14346	1261	44	5	380	5	SIX1	14	61115426	Missense_Mutation	SNP	G	TCGA-CH-5766-01A-11D-1576-08		61115426	46234114	33	1599											
SYNE2	23224	broad.mit.edu	37	chr14	64580250	64580250	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccggaaacattaaacgcagaCatgcagcaggtgctggaaca	15	5	11	10	2	0	1	0	0	0	1	0	3	0	3	1	3	6	4	1	3	4	1			TCGA-CH-5766-01A-11D-1576-08	TCGA-CH-5766-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4a89263-a535-44dc-b2d4-86405c5a3191	8190fde9-3acf-40d4-90c8-2344c571c55e	g.chr14:64580250C>T	ENST00000344113.4	+	66	13013	c.12801C>T	c.(12799-12801)gaC>gaT	p.D4267D	SYNE2_ENST00000357395.3_Silent_p.D652D|SYNE2_ENST00000358025.3_Silent_p.D4267D|SYNE2_ENST00000394768.2_Silent_p.D652D|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000554584.1_Silent_p.D4282D|SYNE2_ENST00000555002.1_Silent_p.D901D	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	4267					centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)	p.D4267D(1)		NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		TAAACGCAGACATGCAGCAGG	0.557																																						ENST00000357395.3																			1	Substitution - coding silent(1)	p.D4267D(1)	prostate(1)	NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224						c.(1954-1956)gaC>gaT		spectrin repeat containing, nuclear envelope 2							30	29	29					14																	64580250		2203	4300	6503	SO:0001819	synonymous_variant	23224				centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding	g.chr14:64580250C>T	AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"nuclear envelope spectrin repeat-2", "nucleus and actin connecting element"	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.12801C>T	14.37:g.64580250C>T						SYNE2_ENST00000554584.1_Silent_p.D4282D|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000394768.2_Silent_p.D652D|SYNE2_ENST00000358025.3_Silent_p.D4267D|SYNE2_ENST00000555002.1_Silent_p.D901D|SYNE2_ENST00000344113.4_Silent_p.D4267D	p.D652D			Q8WXH0	SYNE2_HUMAN		all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)	67	13100	+			4267					Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Silent	SNP	ENST00000344113.4	37	c.1956C>T	CCDS41963.1																																																																																				0.557	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276994.2	NM_182914		11	19	0	0	0	0.361761	0	11	19					T	64580250	C	T	64580250	2	4	32	1	0	0	0	0	0	0	0	1	15443	477	17	3		3	SYNE2	14	64580250	Silent	SNP	C	TCGA-CH-5766-01A-11D-1576-08	3464824	64580250	42769290	34	1600											
CHSY1	22856	broad.mit.edu	37	chr15	101718218	101718218	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaatctgcatgtcggctttaGggtacttaatgcggtaatct	10	14	10	7	2	2	0	0	0	2	0	3	0	2	0	0	3	3	4	0	3	5	5			TCGA-CH-5766-01A-11D-1576-08	TCGA-CH-5766-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4a89263-a535-44dc-b2d4-86405c5a3191	8190fde9-3acf-40d4-90c8-2344c571c55e	g.chr15:101718218G>T	ENST00000254190.3	-	3	2259	c.1784C>A	c.(1783-1785)cCt>cAt	p.P595H	CHSY1_ENST00000543813.1_5'UTR	NM_014918.4	NP_055733.2	Q86X52	CHSS1_HUMAN	chondroitin sulfate synthase 1	595					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|negative regulation of ossification (GO:0030279)|response to nutrient levels (GO:0031667)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|Golgi cisterna membrane (GO:0032580)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity (GO:0047238)|metal ion binding (GO:0046872)|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity (GO:0050510)			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(5)|skin(1)	24	Lung NSC(78;0.00217)|all_lung(78;0.00271)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			GTCGGCTTTAGGGTACTTAAT	0.458																																						ENST00000254190.3																			0				central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(5)|skin(1)	24						c.(1783-1785)cCt>cAt		chondroitin sulfate synthase 1							66	60	62					15																	101718218		2203	4300	6503	SO:0001583	missense	22856				chondroitin sulfate biosynthetic process	Golgi cisterna membrane|integral to membrane	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity	g.chr15:101718218G>T	AB023207	CCDS10390.1	15q26.3	2013-02-19	2008-01-24	2008-01-24	ENSG00000131873	ENSG00000131873	2.4.1.175, 2.4.1.226	"Beta 3-glycosyltransferases", "Beta 4-glycosyltransferases"	17198	protein-coding gene	gene with protein product		608183	"carbohydrate (chondroitin) synthase 1"			11514575	Standard	NM_014918		Approved	KIAA0990, CSS1	uc021sxt.1	Q86X52	OTTHUMG00000149873	ENST00000254190.3:c.1784C>A	15.37:g.101718218G>T	ENSP00000254190:p.Pro595His					CHSY1_ENST00000543813.1_5'UTR	p.P595H	NM_014918.4	NP_055733.2	Q86X52	CHSS1_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)		3	2259	-	Lung NSC(78;0.00217)|all_lung(78;0.00271)|Melanoma(26;0.00505)		595					Q6UX38|Q7LFU5|Q9Y2J5	Missense_Mutation	SNP	ENST00000254190.3	37	c.1784C>A	CCDS10390.1	.	.	.	.	.	.	.	.	.	.	G	18.64	3.667910	0.67814	.	.	ENSG00000131873	ENST00000254190;ENST00000543813	T	0.18502	2.21	5.8	5.8	0.92144	.	0.058186	0.64402	D	0.000001	T	0.47820	0.1466	M	0.82056	2.57	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	T	0.44711	-0.9310	10	0.62326	D	0.03	-28.1413	20.063	0.97692	0.0:0.0:1.0:0.0	.	595	Q86X52	CHSS1_HUMAN	H	595;323	ENSP00000254190:P595H	ENSP00000254190:P595H	P	-	2	0	CHSY1	99535741	1.000000	0.71417	0.852000	0.33557	0.667000	0.39255	9.622000	0.98378	2.735000	0.93741	0.655000	0.94253	CCT		0.458	CHSY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313624.1	NM_014918		4	104	1	0	0.150653	0.150653	0.164349	4	104					T	101718218	G	T	101718218	3	4	32	1	0	0	0	0	1	0	0	0	3412	1000	35	5	628	5	CHSY1	15	101718218	Missense_Mutation	SNP	G	TCGA-CH-5766-01A-11D-1576-08		101718218	813174	35	1601											
MPP2	4355	broad.mit.edu	37	chr17	41956753	41956753	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtaagggacaaactcggccgTtcgtagcaccttcaccgcct	9	8	10	14	4	1	0	1	0	0	0	3	1	1	1	4	2	2	4	4	2	3	4			TCGA-CH-5766-01A-11D-1576-08	TCGA-CH-5766-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4a89263-a535-44dc-b2d4-86405c5a3191	8190fde9-3acf-40d4-90c8-2344c571c55e	g.chr17:41956753T>C	ENST00000461854.1	-	13	1529	c.1444A>G	c.(1444-1446)Acg>Gcg	p.T482A	MPP2_ENST00000520305.1_Missense_Mutation_p.T319A|MPP2_ENST00000377184.3_Missense_Mutation_p.T475A|MPP2_ENST00000536246.1_Missense_Mutation_p.T447A|MPP2_ENST00000523501.1_Missense_Mutation_p.T447A|MPP2_ENST00000473246.1_5'Flank|MPP2_ENST00000518766.1_Missense_Mutation_p.T503A|MPP2_ENST00000269095.4_Missense_Mutation_p.T458A			Q14168	MPP2_HUMAN	membrane protein, palmitoylated 2 (MAGUK p55 subfamily member 2)	482	Guanylate kinase-like. {ECO:0000255|PROSITE-ProRule:PRU00100}.				nucleotide phosphorylation (GO:0046939)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	guanylate kinase activity (GO:0004385)			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|liver(1)|lung(4)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)	29		Breast(137;0.00314)		BRCA - Breast invasive adenocarcinoma(366;0.12)		AACTCGGCCGTTCGTAGCACC	0.572																																						ENST00000269095.4																			0				breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|liver(1)|lung(4)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)	29						c.(1372-1374)Acg>Gcg		membrane protein, palmitoylated 2 (MAGUK p55 subfamily member 2)							102	91	94					17																	41956753		2203	4300	6503	SO:0001583	missense	4355				signal transduction	cell surface|integral to plasma membrane|membrane fraction	guanylate kinase activity	g.chr17:41956753T>C		CCDS11471.1, CCDS62206.1, CCDS62207.1, CCDS62208.1, CCDS62209.1, CCDS62210.1	17q12-q21	2008-07-18			ENSG00000108852	ENSG00000108852			7220	protein-coding gene	gene with protein product	"MAGUK p55 subfamily member 2", "discs large, homolog 2"	600723		DLG2		7590743	Standard	NM_001278370		Approved	DKFZp761D0712	uc002ieo.1	Q14168	OTTHUMG00000133840	ENST00000461854.1:c.1444A>G	17.37:g.41956753T>C	ENSP00000428286:p.Thr482Ala					MPP2_ENST00000518766.1_Missense_Mutation_p.T503A|MPP2_ENST00000461854.1_Missense_Mutation_p.T482A|MPP2_ENST00000377184.3_Missense_Mutation_p.T475A|MPP2_ENST00000536246.1_Missense_Mutation_p.T447A|MPP2_ENST00000523501.1_Missense_Mutation_p.T447A|MPP2_ENST00000520305.1_Missense_Mutation_p.T319A	p.T458A	NM_001278370.1|NM_001278381.1|NM_005374.3	NP_001265299.1|NP_001265310.1|NP_005365.3	Q14168	MPP2_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.12)	12	1676	-		Breast(137;0.00314)	482			Guanylate kinase-like.		B4DGE9|B4DRJ0|B7Z3G8|E7EV80|E7EV91|E7EX01|Q53ES9|Q5CZB9|Q9BQJ2	Missense_Mutation	SNP	ENST00000461854.1	37	c.1372A>G		.	.	.	.	.	.	.	.	.	.	t	22.2	4.258705	0.80246	.	.	ENSG00000108852	ENST00000377184;ENST00000269095;ENST00000461854;ENST00000520305;ENST00000523501;ENST00000536246;ENST00000518766	T;T;T;T;T;T;T	0.41758	0.99;0.99;0.99;0.99;0.99;0.99;0.99	4.83	4.83	0.62350	.	.	.	.	.	T	0.55561	0.1928	M	0.62723	1.935	0.80722	D	1	D;P	0.55385	0.971;0.891	P;P	0.57244	0.816;0.72	T	0.60296	-0.7291	9	0.87932	D	0	.	13.0433	0.58913	0.0:0.0:0.0:1.0	.	503;475	E7EV80;Q14168-3	.;.	A	475;458;482;319;447;447;503	ENSP00000366389:T475A;ENSP00000269095:T458A;ENSP00000428286:T482A;ENSP00000428136:T319A;ENSP00000430540:T447A;ENSP00000438012:T447A;ENSP00000428182:T503A	ENSP00000269095:T458A	T	-	1	0	MPP2	39312279	1.000000	0.71417	0.946000	0.38457	0.611000	0.37282	8.000000	0.88501	2.112000	0.64535	0.477000	0.44152	ACG		0.572	MPP2-003	KNOWN	non_canonical_polymorphism|basic	protein_coding	protein_coding	OTTHUMT00000258388.2	NM_005374		7	123	0	0	0	0.307466	0	7	123					C	41956753	T	C	41956753	3	2	32	1	0	0	0	0	1	0	0	0	9734	1725	60	4	294	4	MPP2	17	41956753	Missense_Mutation	SNP	T	TCGA-CH-5766-01A-11D-1576-08		41956753	39238457	36	1602											
ANKRD12	23253	broad.mit.edu	37	chr18	9221994	9221994	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgatgatgatgaaagttacAcaggtttgtttcagataatc	13	14	9	5	0	1	5	1	4	0	1	2	5	1	5	0	1	1	3	0	1	3	4			TCGA-CH-5766-01A-11D-1576-08	TCGA-CH-5766-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4a89263-a535-44dc-b2d4-86405c5a3191	8190fde9-3acf-40d4-90c8-2344c571c55e	g.chr18:9221994A>G	ENST00000262126.4	+	8	1180	c.940A>G	c.(940-942)Aca>Gca	p.T314A	ANKRD12_ENST00000400020.3_Missense_Mutation_p.T291A|ANKRD12_ENST00000383440.2_Missense_Mutation_p.T291A|ANKRD12_ENST00000540578.2_3'UTR	NM_015208.4	NP_056023.3	Q6UB98	ANR12_HUMAN	ankyrin repeat domain 12	314						cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.T314A(1)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(20)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(2)	65						TGAAAGTTACACAGGTTTGTT	0.348																																						ENST00000383440.2																			1	Substitution - Missense(1)	p.T314A(1)	prostate(1)	NS(1)|breast(3)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(20)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(2)	65						c.(871-873)Aca>Gca		ankyrin repeat domain 12							163	137	145					18																	9221994		2203	4300	6503	SO:0001583	missense	23253					nucleus		g.chr18:9221994A>G	AY373757	CCDS11843.1, CCDS42411.1	18p11.22	2013-01-10			ENSG00000101745	ENSG00000101745		"Ankyrin repeat domain containing"	29135	protein-coding gene	gene with protein product		610616				10048485	Standard	NM_001204056		Approved	KIAA0874, FLJ20053, GAC-1	uc002knv.3	Q6UB98	OTTHUMG00000131595	ENST00000262126.4:c.940A>G	18.37:g.9221994A>G	ENSP00000262126:p.Thr314Ala					ANKRD12_ENST00000262126.3_Missense_Mutation_p.T314A|ANKRD12_ENST00000540578.2_3'UTR|ANKRD12_ENST00000400020.3_Missense_Mutation_p.T291A	p.T291A	NM_001083625.2	NP_001077094.1	Q6UB98	ANR12_HUMAN			7	1128	+			314					O94951|Q658K1|Q6QMF7|Q9H231|Q9H784	Missense_Mutation	SNP	ENST00000262126.4	37	c.871A>G	CCDS11843.1	.	.	.	.	.	.	.	.	.	.	A	12.50	1.957942	0.34565	.	.	ENSG00000101745	ENST00000383440;ENST00000546007;ENST00000262126;ENST00000540578	T;T	0.67865	-0.29;-0.29	5.59	5.59	0.84812	.	0.062178	0.64402	D	0.000003	T	0.51787	0.1695	N	0.19112	0.55	0.39849	D	0.973213	B;P;B	0.37207	0.006;0.587;0.451	B;B;B	0.38156	0.003;0.266;0.137	T	0.59904	-0.7366	10	0.72032	D	0.01	-22.7857	9.3949	0.38397	0.7306:0.0:0.0:0.2694	.	314;291;314	Q6PG48;Q6UB98-2;Q6UB98	.;.;ANR12_HUMAN	A	291;291;314;314	ENSP00000372932:T291A;ENSP00000262126:T314A	ENSP00000262126:T314A	T	+	1	0	ANKRD12	9211994	1.000000	0.71417	0.997000	0.53966	0.998000	0.95712	4.439000	0.59968	2.128000	0.65567	0.459000	0.35465	ACA		0.348	ANKRD12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254478.2	NM_015208		10	113	0	0	0	0.38729	0	10	113					G	9221994	A	G	9221994	3	3	32	1	0	0	0	0	1	0	0	0	640	159	6	4	966	4	ANKRD12	18	9221994	Missense_Mutation	SNP	A	TCGA-CH-5766-01A-11D-1576-08		9221994	68855254	37	1603											
MOCOS	55034	broad.mit.edu	37	chr18	33836994	33836994	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggcacagtatctgctgatcaAcacatccagtattttggaac	12	11	8	10	0	2	1	1	1	1	0	3	2	3	2	1	2	3	4	1	2	4	4			TCGA-CH-5766-01A-11D-1576-08	TCGA-CH-5766-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4a89263-a535-44dc-b2d4-86405c5a3191	8190fde9-3acf-40d4-90c8-2344c571c55e	g.chr18:33836994A>T	ENST00000261326.5	+	12	2249	c.2228A>T	c.(2227-2229)aAc>aTc	p.N743I	MOCOS_ENST00000588132.1_3'UTR	NM_017947.2	NP_060417.2			molybdenum cofactor sulfurase									p.N743I(1)		breast(2)|endometrium(5)|kidney(1)|large_intestine(10)|liver(1)|lung(15)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						CTGCTGATCAACACATCCAGT	0.453																																						ENST00000261326.5																			1	Substitution - Missense(1)	p.N743I(1)	prostate(1)	breast(2)|endometrium(5)|kidney(1)|large_intestine(10)|liver(1)|lung(15)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						c.(2227-2229)aAc>aTc		molybdenum cofactor sulfurase	Pyridoxal Phosphate(DB00114)						239	210	220					18																	33836994		2203	4300	6503	SO:0001583	missense	55034				Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol	lyase activity|Mo-molybdopterin cofactor sulfurase activity|molybdenum ion binding|pyridoxal phosphate binding	g.chr18:33836994A>T	AK000740	CCDS11919.1	18q12	2003-12-18			ENSG00000075643	ENSG00000075643			18234	protein-coding gene	gene with protein product		613274				11302742	Standard	NM_017947		Approved	HMCS, FLJ20733, MOS	uc002kzq.4	Q96EN8	OTTHUMG00000132590	ENST00000261326.5:c.2228A>T	18.37:g.33836994A>T	ENSP00000261326:p.Asn743Ile					MOCOS_ENST00000588132.1_3'UTR	p.N743I	NM_017947.2	NP_060417.2	Q96EN8	MOCOS_HUMAN			12	2249	+			743			MOSC.			Missense_Mutation	SNP	ENST00000261326.5	37	c.2228A>T	CCDS11919.1	.	.	.	.	.	.	.	.	.	.	A	17.65	3.442240	0.63067	.	.	ENSG00000075643	ENST00000261326	T	0.37411	1.2	5.01	5.01	0.66863	Pyruvate kinase-like, insert domain (1);Molybdenum cofactor sulfurase, C-terminal (2);	0.000000	0.85682	D	0.000000	T	0.66713	0.2817	M	0.92459	3.31	0.32128	N	0.587155	D	0.89917	1.0	D	0.87578	0.998	T	0.78620	-0.2133	10	0.87932	D	0	-34.1826	11.4306	0.50038	1.0:0.0:0.0:0.0	.	743	Q96EN8	MOCOS_HUMAN	I	743	ENSP00000261326:N743I	ENSP00000261326:N743I	N	+	2	0	MOCOS	32090992	1.000000	0.71417	0.951000	0.38953	0.653000	0.38743	6.202000	0.72131	2.035000	0.60131	0.533000	0.62120	AAC		0.453	MOCOS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255801.1			57	179	0	0	0	0.870114	0	57	179					T	33836994	A	T	33836994	3	4	32	1	0	0	0	0	1	0	0	0	9689	43	2	5	2274	5	MOCOS	18	33836994	Missense_Mutation	SNP	A	TCGA-CH-5766-01A-11D-1576-08	24615000	33836994	44240254	38	1604											
CCDC105	126402	broad.mit.edu	37	chr19	15132676	15132676	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gctggacagacccctggttcGcatgtaccagagacacgtgg	9	7	13	12	2	0	2	0	0	0	2	1	4	0	3	3	3	1	4	3	3	1	2			TCGA-CH-5766-01A-11D-1576-08	TCGA-CH-5766-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4a89263-a535-44dc-b2d4-86405c5a3191	8190fde9-3acf-40d4-90c8-2344c571c55e	g.chr19:15132676G>A	ENST00000292574.3	+	6	1278	c.1196G>A	c.(1195-1197)cGc>cAc	p.R399H		NM_173482.2	NP_775753.2	Q8IYK2	CC105_HUMAN	coiled-coil domain containing 105	399						extracellular vesicular exosome (GO:0070062)		p.R399H(1)		NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(4)|skin(2)	23						CCCCTGGTTCGCATGTACCAG	0.642																																						ENST00000292574.3																			1	Substitution - Missense(1)	p.R399H(1)	prostate(1)	NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(4)|skin(2)	23						c.(1195-1197)cGc>cAc		coiled-coil domain containing 105							63	70	68					19																	15132676		2203	4300	6503	SO:0001583	missense	126402				microtubule cytoskeleton organization	microtubule		g.chr19:15132676G>A	AK097684	CCDS12322.1	19p13.12	2008-02-05				ENSG00000160994			26866	protein-coding gene	gene with protein product						12477932	Standard	NM_173482		Approved	FLJ40365	uc002nae.2	Q8IYK2		ENST00000292574.3:c.1196G>A	19.37:g.15132676G>A	ENSP00000292574:p.Arg399His						p.R399H	NM_173482.2	NP_775753.2	Q8IYK2	CC105_HUMAN			6	1278	+			399					Q8N7T5|Q8NDL5	Missense_Mutation	SNP	ENST00000292574.3	37	c.1196G>A	CCDS12322.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.064385	0.76187	.	.	ENSG00000160994	ENST00000292574	T	0.02369	4.32	3.78	3.78	0.43462	.	0.123969	0.36066	N	0.002804	T	0.11452	0.0279	M	0.67953	2.075	0.29249	N	0.872124	D	0.89917	1.0	D	0.74674	0.984	T	0.00411	-1.1756	10	0.66056	D	0.02	-21.7011	11.0597	0.47940	0.0:0.0:1.0:0.0	.	399	Q8IYK2	CC105_HUMAN	H	399	ENSP00000292574:R399H	ENSP00000292574:R399H	R	+	2	0	CCDC105	14993676	0.990000	0.36364	0.995000	0.50966	0.994000	0.84299	2.864000	0.48404	1.973000	0.57446	0.549000	0.68633	CGC		0.642	CCDC105-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466293.1	NM_173482		35	88	0	0	0	0.769981	0	35	88					A	15132676	G	A	15132676	3	1	32	1	0	0	0	0	1	0	0	0	2740	1087	38	1	1218	1	CCDC105	19	15132676	Missense_Mutation	SNP	G	TCGA-CH-5766-01A-11D-1576-08		15132676	43996307	39	1605											
SPTBN4	57731	broad.mit.edu	37	chr19	41062020	41062020	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agccggcggcagtctcaggtGgaccgcctgtacgtggcgct	5	7	16	13	5	1	0	1	0	1	0	2	1	1	1	3	5	2	3	3	5	1	1			TCGA-CH-5766-01A-11D-1576-08	TCGA-CH-5766-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4a89263-a535-44dc-b2d4-86405c5a3191	8190fde9-3acf-40d4-90c8-2344c571c55e	g.chr19:41062020G>A	ENST00000352632.3	+	25	5201	c.5115G>A	c.(5113-5115)gtG>gtA	p.V1705V	SPTBN4_ENST00000598249.1_Silent_p.V1705V|SPTBN4_ENST00000392025.1_Silent_p.V448V|SPTBN4_ENST00000392023.1_Silent_p.V381V|SPTBN4_ENST00000338932.3_Silent_p.V1705V|SPTBN4_ENST00000595535.1_Silent_p.V1705V			Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4	1705					actin filament capping (GO:0051693)|adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cardiac conduction (GO:0061337)|central nervous system projection neuron axonogenesis (GO:0021952)|clustering of voltage-gated sodium channels (GO:0045162)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization to plasma membrane (GO:0090002)|fertilization (GO:0009566)|negative regulation of heart rate (GO:0010459)|positive regulation of multicellular organism growth (GO:0040018)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of sodium ion transport (GO:0002028)|sensory perception of sound (GO:0007605)|transmission of nerve impulse (GO:0019226)|vesicle-mediated transport (GO:0016192)	adherens junction (GO:0005912)|axon hillock (GO:0043203)|axon initial segment (GO:0043194)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|nuclear matrix (GO:0016363)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|PML body (GO:0016605)|spectrin (GO:0008091)	actin binding (GO:0003779)|ankyrin binding (GO:0030506)|phosphatase binding (GO:0019902)|phospholipid binding (GO:0005543)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)	p.V1705V(1)		breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			AGTCTCAGGTGGACCGCCTGT	0.662																																						ENST00000352632.3																			1	Substitution - coding silent(1)	p.V1705V(1)	prostate(1)	breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73						c.(5113-5115)gtG>gtA		spectrin, beta, non-erythrocytic 4							28	28	28					19																	41062020		2202	4300	6502	SO:0001819	synonymous_variant	57731				actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport	cytosol|nuclear matrix|PML body|spectrin	actin binding|ankyrin binding|structural constituent of cytoskeleton	g.chr19:41062020G>A	AF082075	CCDS12559.1, CCDS42569.1	19q13.13	2013-01-10				ENSG00000160460		"Pleckstrin homology (PH) domain containing"	14896	protein-coding gene	gene with protein product		606214				11086001	Standard	NM_020971		Approved	SPTBN3, KIAA1642	uc002onz.3	Q9H254		ENST00000352632.3:c.5115G>A	19.37:g.41062020G>A						SPTBN4_ENST00000338932.3_Silent_p.V1705V|SPTBN4_ENST00000392023.1_Silent_p.V381V|SPTBN4_ENST00000598249.1_Silent_p.V1705V|SPTBN4_ENST00000392025.1_Silent_p.V448V|SPTBN4_ENST00000595535.1_Silent_p.V1705V	p.V1705V			Q9H254	SPTN4_HUMAN	Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)		25	5201	+			1705					E9PGQ5|Q9H1K7|Q9H1K8|Q9H1K9|Q9H253|Q9H3G8|Q9HCD0	Silent	SNP	ENST00000352632.3	37	c.5115G>A	CCDS12559.1																																																																																				0.662	SPTBN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462559.2			6	53	0	0	0	0.248553	0	6	53					A	41062020	G	A	41062020	2	1	32	1	0	0	0	0	0	0	0	1	15120	1335	47	3		3	SPTBN4	19	41062020	Silent	SNP	G	TCGA-CH-5766-01A-11D-1576-08	25929344	41062020	18066963	40	1606											
DOPEY2	9980	broad.mit.edu	37	chr21	37586800	37586800	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acgtggaggaacgccatcatGcatacctgaagccttttcgc	10	9	10	12	3	1	1	1	1	0	0	2	3	1	3	3	2	4	1	3	2	3	3			TCGA-CH-5766-01A-11D-1576-08	TCGA-CH-5766-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4a89263-a535-44dc-b2d4-86405c5a3191	8190fde9-3acf-40d4-90c8-2344c571c55e	g.chr21:37586800G>A	ENST00000399151.3	+	9	1160	c.1075G>A	c.(1075-1077)Gca>Aca	p.A359T	RN7SL73P_ENST00000585239.1_RNA	NM_005128.2	NP_005119.2	Q9Y3R5	DOP2_HUMAN	dopey family member 2	359					cognition (GO:0050890)|endoplasmic reticulum organization (GO:0007029)|Golgi to endosome transport (GO:0006895)|multicellular organismal development (GO:0007275)|protein transport (GO:0015031)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)		p.A359T(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						ACGCCATCATGCATACCTGAA	0.393																																						ENST00000399151.3																			1	Substitution - Missense(1)	p.A359T(1)	prostate(1)	autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						c.(1075-1077)Gca>Aca		dopey family member 2							139	115	123					21																	37586800		2203	4300	6503	SO:0001583	missense	9980				endoplasmic reticulum organization|Golgi to endosome transport|multicellular organismal development|protein transport	Golgi membrane		g.chr21:37586800G>A	AJ237839	CCDS13643.1	21q22.2	2013-03-05	2006-02-02	2006-02-02	ENSG00000142197	ENSG00000142197			1291	protein-coding gene	gene with protein product		604803	"chromosome 21 open reading frame 5"	C21orf5		16301316, 16303751, 10931277	Standard	NM_005128		Approved	KIAA0933	uc002yvg.3	Q9Y3R5	OTTHUMG00000086619	ENST00000399151.3:c.1075G>A	21.37:g.37586800G>A	ENSP00000382104:p.Ala359Thr						p.A359T	NM_005128.2	NP_005119.2	Q9Y3R5	DOP2_HUMAN			9	1160	+			359					D3DSG5|Q6PJQ7|Q9UEZ3	Missense_Mutation	SNP	ENST00000399151.3	37	c.1075G>A	CCDS13643.1	.	.	.	.	.	.	.	.	.	.	G	8.834	0.940588	0.18281	.	.	ENSG00000142197	ENST00000399151	T	0.11712	2.75	5.57	1.82	0.25136	.	0.385076	0.29066	N	0.013242	T	0.10551	0.0258	L	0.57536	1.79	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.09377	0.004;0.002	T	0.36962	-0.9726	10	0.16896	T	0.51	.	10.3765	0.44085	0.2635:0.0:0.7365:0.0	.	359;359	Q9Y3R5-2;Q9Y3R5	.;DOP2_HUMAN	T	359	ENSP00000382104:A359T	ENSP00000382104:A359T	A	+	1	0	DOPEY2	36508670	0.037000	0.19845	0.000000	0.03702	0.225000	0.24961	1.939000	0.40213	0.062000	0.16340	-0.137000	0.14449	GCA		0.393	DOPEY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194636.1	NM_005128		9	70	0	0	0	0.335167	0	9	70					A	37586800	G	A	37586800	3	1	32	1	0	0	0	0	1	0	0	0	4708	1319	46	3	1105	3	DOPEY2	21	37586800	Missense_Mutation	SNP	G	TCGA-CH-5766-01A-11D-1576-08		37586800	10543095	41	1607											
COL6A1	1291	broad.mit.edu	37	chr21	47421898	47421898	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gagccagggcagtcgtacgcGggtgtggtgcagtacagcca	8	6	17	10	3	0	0	0	0	0	0	1	1	0	0	2	3	5	4	2	3	2	2	rs370780432		TCGA-CH-5766-01A-11D-1576-08	TCGA-CH-5766-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4a89263-a535-44dc-b2d4-86405c5a3191	8190fde9-3acf-40d4-90c8-2344c571c55e	g.chr21:47421898G>A	ENST00000361866.3	+	31	2094	c.1980G>A	c.(1978-1980)gcG>gcA	p.A660A	COL6A1_ENST00000498614.1_3'UTR	NM_001848.2	NP_001839.2	P12109	CO6A1_HUMAN	collagen, type VI, alpha 1	660	C-terminal globular domain.|VWFA 2. {ECO:0000255|PROSITE- ProRule:PRU00219}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|osteoblast differentiation (GO:0001649)|protein heterotrimerization (GO:0070208)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|protein complex (GO:0043234)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)	platelet-derived growth factor binding (GO:0048407)	p.A660A(2)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33	all_hematologic(128;0.24)			Colorectal(79;0.0265)|READ - Rectum adenocarcinoma(84;0.0649)		AGTCGTACGCGGGTGTGGTGC	0.652																																						ENST00000361866.3																			2	Substitution - coding silent(2)	p.A660A(2)	prostate(1)|lung(1)	breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33						c.(1978-1980)gcG>gcA		collagen, type VI, alpha 1	Palifermin(DB00039)	G		1,4405		0,1,2202	40	38	39		1980	-9.3	0	21		39	0,8600		0,0,4300	no	coding-synonymous	COL6A1	NM_001848.2		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		660/1029	47421898	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	1291				axon guidance|cell adhesion|protein heterotrimerization	collagen type VI|protein complex	platelet-derived growth factor binding	g.chr21:47421898G>A	M20776	CCDS13727.1	21q22.3	2014-09-17			ENSG00000142156	ENSG00000142156		"Collagens"	2211	protein-coding gene	gene with protein product		120220					Standard	XM_006723964		Approved		uc002zhu.1	P12109	OTTHUMG00000090440	ENST00000361866.3:c.1980G>A	21.37:g.47421898G>A						COL6A1_ENST00000498614.1_3'UTR	p.A660A	NM_001848.2	NP_001839.2	P12109	CO6A1_HUMAN		Colorectal(79;0.0265)|READ - Rectum adenocarcinoma(84;0.0649)	31	2094	+	all_hematologic(128;0.24)		660			C-terminal globular domain.|VWFA 2.		O00117|O00118|Q14040|Q14041|Q16258|Q7Z645|Q9BSA8	Silent	SNP	ENST00000361866.3	37	c.1980G>A	CCDS13727.1																																																																																				0.652	COL6A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206877.1	NM_001848		5	19	0	0	0	0.217242	0	5	19					A	47421898	G	A	47421898	2	1	32	1	0	0	0	0	0	0	0	1	3699	1103	39	2		2	COL6A1	21	47421898	Silent	SNP	G	TCGA-CH-5766-01A-11D-1576-08	9835098	47421898	707997	42	1608											
WNK3	65267	broad.mit.edu	37	chrX	54359994	54359994	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tactgtttttctcctttagtCtagcttctactgtcaaagtt	7	20	5	9	0	4	0	1	0	3	0	5	0	4	0	1	0	3	3	1	0	5	9			TCGA-CH-5766-01A-11D-1576-08	TCGA-CH-5766-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4a89263-a535-44dc-b2d4-86405c5a3191	8190fde9-3acf-40d4-90c8-2344c571c55e	g.chrX:54359994C>T	ENST00000375159.2	-	1	112	c.113G>A	c.(112-114)aGa>aAa	p.R38K	WNK3_ENST00000375169.3_Missense_Mutation_p.R38K|WNK3_ENST00000354646.2_Missense_Mutation_p.R38K			Q9BYP7	WNK3_HUMAN	WNK lysine deficient protein kinase 3	38					intracellular signal transduction (GO:0035556)|negative regulation of apoptotic process (GO:0043066)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of ion transmembrane transporter activity (GO:0032414)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of rubidium ion transmembrane transporter activity (GO:2000688)|positive regulation of rubidium ion transport (GO:2000682)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of ion homeostasis (GO:2000021)	adherens junction (GO:0005912)|cytoplasm (GO:0005737)|tight junction (GO:0005923)	ATP binding (GO:0005524)|chloride channel inhibitor activity (GO:0019869)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.R38K(2)		autonomic_ganglia(1)|biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(24)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						CTCCTTTAGTCTAGCTTCTAC	0.428																																						ENST00000354646.2																			2	Substitution - Missense(2)	p.R38K(2)	prostate(2)	autonomic_ganglia(1)|biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(24)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						c.(112-114)aGa>aAa		WNK lysine deficient protein kinase 3							77	72	74					X																	54359994		2203	4300	6503	SO:0001583	missense	65267				intracellular protein kinase cascade|positive regulation of establishment of protein localization in plasma membrane|positive regulation of peptidyl-threonine phosphorylation|positive regulation of rubidium ion transmembrane transporter activity|positive regulation of rubidium ion transport|positive regulation of sodium ion transmembrane transporter activity|positive regulation of sodium ion transport|protein autophosphorylation	adherens junction|tight junction	ATP binding|protein binding|protein serine/threonine kinase activity|rubidium ion transmembrane transporter activity|sodium ion transmembrane transporter activity	g.chrX:54359994C>T	AJ409088	CCDS14357.1, CCDS35302.1	Xp11.22	2008-05-14	2005-01-19	2005-01-22	ENSG00000196632	ENSG00000196632			14543	protein-coding gene	gene with protein product		300358	"protein kinase, lysine deficient 3"	PRKWNK3			Standard	NM_020922		Approved		uc004dtc.2	Q9BYP7	OTTHUMG00000021626	ENST00000375159.2:c.113G>A	X.37:g.54359994C>T	ENSP00000364301:p.Arg38Lys					WNK3_ENST00000375169.3_Missense_Mutation_p.R38K|WNK3_ENST00000375159.2_Missense_Mutation_p.R38K	p.R38K	NM_020922.4	NP_065973.2	Q9BYP7	WNK3_HUMAN			2	551	-			38					B1AKG2|Q5JRC1|Q6JP76|Q8TCX6|Q9HCK6	Missense_Mutation	SNP	ENST00000375159.2	37	c.113G>A	CCDS14357.1	.	.	.	.	.	.	.	.	.	.	C	2.202	-0.382751	0.04966	.	.	ENSG00000196632	ENST00000375169;ENST00000354646;ENST00000375159;ENST00000458404	T;T;T	0.69435	-0.39;-0.4;-0.4	5.42	-1.81	0.07882	.	0.560875	0.17260	N	0.180839	T	0.39733	0.1089	N	0.17082	0.46	0.09310	N	1	B;B	0.09022	0.002;0.001	B;B	0.13407	0.009;0.002	T	0.10613	-1.0622	10	0.30854	T	0.27	-3.014	2.5823	0.04821	0.1185:0.4056:0.115:0.3609	.	38;38	Q9BYP7-3;Q9BYP7	.;WNK3_HUMAN	K	38	ENSP00000364312:R38K;ENSP00000346667:R38K;ENSP00000364301:R38K	ENSP00000346667:R38K	R	-	2	0	WNK3	54376719	0.000000	0.05858	0.000000	0.03702	0.050000	0.14768	-0.320000	0.08028	-0.104000	0.12154	0.544000	0.68410	AGA		0.428	WNK3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056799.2	NM_020922		8	125	0	0	0	0.335167	0	8	125					T	54359994	C	T	54359994	3	4	32	1	0	0	0	0	1	0	0	0	17376	913	32	3	5381	3	WNK3	23	54359994	Missense_Mutation	SNP	C	TCGA-CH-5766-01A-11D-1576-08		54359994	100910566	43	1609											
CENPI	2491	broad.mit.edu	37	chrX	100364926	100364926	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aatgtttgacttcattgatcGtaaggagcaaattaacttgc	13	14	8	6	1	1	2	1	2	0	0	2	3	1	3	0	1	3	3	0	1	4	6			TCGA-CH-5766-01A-11D-1576-08	TCGA-CH-5766-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4a89263-a535-44dc-b2d4-86405c5a3191	8190fde9-3acf-40d4-90c8-2344c571c55e	g.chrX:100364926G>A	ENST00000372927.1	+	5	807	c.530G>A	c.(529-531)cGt>cAt	p.R177H	CENPI_ENST00000423383.1_Missense_Mutation_p.R177H|CENPI_ENST00000372926.1_Missense_Mutation_p.R177H|CENPI_ENST00000218507.5_Missense_Mutation_p.R177H	NM_006733.2	NP_006724.2	Q92674	CENPI_HUMAN	centromere protein I	177					CENP-A containing nucleosome assembly (GO:0034080)|mitotic cell cycle (GO:0000278)|nucleosome assembly (GO:0006334)|sex differentiation (GO:0007548)	cytosol (GO:0005829)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)		p.R177H(1)		breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(19)|prostate(1)|skin(2)	30						TTCATTGATCGTAAGGAGCAA	0.338																																						ENST00000372927.1																			1	Substitution - Missense(1)	p.R177H(1)	prostate(1)	breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(19)|prostate(1)|skin(2)	30						c.(529-531)cGt>cAt		centromere protein I							186	147	160					X																	100364926		2202	4300	6502	SO:0001583	missense	2491				CenH3-containing nucleosome assembly at centromere|mitotic prometaphase	cytosol|kinetochore|nucleoplasm	protein binding	g.chrX:100364926G>A	X97249	CCDS14479.1	Xq22.1	2013-11-05	2006-06-15	2006-06-15	ENSG00000102384	ENSG00000102384			3968	protein-coding gene	gene with protein product		300065	"FSH primary response (LRPR1, rat) homolog 1", "FSH primary response (LRPR1 homolog, rat) 1"	FSHPRH1		16622420	Standard	NM_006733		Approved	LRPR1, CENP-I, Mis6	uc004egx.3	Q92674	OTTHUMG00000022018	ENST00000372927.1:c.530G>A	X.37:g.100364926G>A	ENSP00000362018:p.Arg177His					CENPI_ENST00000218507.5_Missense_Mutation_p.R177H|CENPI_ENST00000423383.1_Missense_Mutation_p.R177H|CENPI_ENST00000372926.1_Missense_Mutation_p.R177H	p.R177H	NM_006733.2	NP_006724.2	Q92674	CENPI_HUMAN			5	807	+			177					Q5JWZ9|Q96ED0	Missense_Mutation	SNP	ENST00000372927.1	37	c.530G>A	CCDS14479.1	.	.	.	.	.	.	.	.	.	.	G	6.259	0.415891	0.11870	.	.	ENSG00000102384	ENST00000423383;ENST00000218507;ENST00000372926;ENST00000372927	.	.	.	5.37	2.83	0.33086	.	0.583659	0.19898	N	0.103589	T	0.06050	0.0157	N	0.00088	-2.19	0.21527	N	0.999658	B;B	0.06786	0.001;0.0	B;B	0.06405	0.002;0.001	T	0.35201	-0.9798	9	0.30078	T	0.28	-1.6608	7.7782	0.29049	0.8271:0.0:0.1729:0.0	.	177;177	B4DZL4;Q92674	.;CENPI_HUMAN	H	177	.	ENSP00000218507:R177H	R	+	2	0	CENPI	100251582	0.411000	0.25384	0.953000	0.39169	0.953000	0.61014	0.849000	0.27723	0.275000	0.22094	-0.354000	0.07668	CGT		0.338	CENPI-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057519.1	NM_006733		33	26	0	0	0	0.779181	0	33	26					A	100364926	G	A	100364926	3	1	32	1	0	0	0	0	1	0	0	0	3233	1145	40	1	544	1	CENPI	23	100364926	Missense_Mutation	SNP	G	TCGA-CH-5766-01A-11D-1576-08	46004932	100364926	54905634	44	1610											
FRMD7	90167	broad.mit.edu	37	chrX	131219961	131219961	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tacttacatgtgcttctgatGaaagtgcatgatcttgccct	9	15	8	9	0	2	3	0	3	2	0	2	3	2	3	1	0	5	2	1	0	3	4			TCGA-CH-5766-01A-11D-1576-08	TCGA-CH-5766-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4a89263-a535-44dc-b2d4-86405c5a3191	8190fde9-3acf-40d4-90c8-2344c571c55e	g.chrX:131219961G>A	ENST00000298542.4	-	6	659	c.484C>T	c.(484-486)Cat>Tat	p.H162Y	FRMD7_ENST00000464296.1_Missense_Mutation_p.H147Y|FRMD7_ENST00000370879.1_Missense_Mutation_p.H42Y	NM_194277.2	NP_919253.1	Q6ZUT3	FRMD7_HUMAN	FERM domain containing 7	162	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				regulation of neuron projection development (GO:0010975)	cytoskeleton (GO:0005856)|extracellular space (GO:0005615)|growth cone (GO:0030426)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)		p.H162Y(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(12)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24	Acute lymphoblastic leukemia(192;0.000127)					TGCTTCTGATGAAAGTGCATG	0.443																																						ENST00000298542.4																			1	Substitution - Missense(1)	p.H162Y(1)	prostate(1)	breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(12)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24						c.(484-486)Cat>Tat		FERM domain containing 7							298	232	254					X																	131219961		2203	4300	6503	SO:0001583	missense	90167				regulation of neuron projection development	cytoskeleton|growth cone|neuronal cell body	binding	g.chrX:131219961G>A	AL161984	CCDS35397.1	Xq26.2	2014-09-17	2006-09-01	2006-09-01	ENSG00000165694	ENSG00000165694			8079	protein-coding gene	gene with protein product		300628	"nystagmus 1, congenital"	NYS, NYS1		2063919, 17013395	Standard	NM_194277		Approved	FLJ43346	uc004ewn.3	Q6ZUT3	OTTHUMG00000022421	ENST00000298542.4:c.484C>T	X.37:g.131219961G>A	ENSP00000298542:p.His162Tyr					FRMD7_ENST00000370879.1_Missense_Mutation_p.H42Y|FRMD7_ENST00000464296.1_Missense_Mutation_p.H147Y	p.H162Y	NM_194277.2	NP_919253.1	Q6ZUT3	FRMD7_HUMAN			6	659	-	Acute lymphoblastic leukemia(192;0.000127)		162			FERM.		C0LLJ3|Q5JX99	Missense_Mutation	SNP	ENST00000298542.4	37	c.484C>T	CCDS35397.1	.	.	.	.	.	.	.	.	.	.	G	15.98	2.991701	0.54041	.	.	ENSG00000165694	ENST00000370879;ENST00000298542;ENST00000464296	T;T;T	0.77358	-1.09;-1.09;-1.09	5.71	5.71	0.89125	Band 4.1 domain (1);FERM central domain (2);FERM domain (1);FERM/acyl-CoA-binding protein, 3-helical bundle (1);	0.047688	0.85682	D	0.000000	T	0.71634	0.3363	L	0.41027	1.25	0.80722	D	1	B;P	0.42375	0.347;0.778	B;B	0.42245	0.085;0.381	T	0.74731	-0.3566	10	0.62326	D	0.03	.	11.2684	0.49124	0.0846:0.0:0.9154:0.0	.	147;162	Q6ZUT3-2;Q6ZUT3	.;FRMD7_HUMAN	Y	42;162;147	ENSP00000359916:H42Y;ENSP00000298542:H162Y;ENSP00000417996:H147Y	ENSP00000298542:H162Y	H	-	1	0	FRMD7	131047642	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	6.446000	0.73460	2.407000	0.81776	0.600000	0.82982	CAT		0.443	FRMD7-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000355031.1	NM_194277		73	88	0	0	0	0.870114	0	73	88					A	131219961	G	A	131219961	3	1	32	1	0	0	0	0	1	0	0	0	6055	1290	45	3	1688	3	FRMD7	23	131219961	Missense_Mutation	SNP	G	TCGA-CH-5766-01A-11D-1576-08	30855035	131219961	24050599	45	1611											
NOTCH2	4853	broad.mit.edu	37	chr1	120539834	120539834	+	Nonsense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cactcattgacatcagtctcAcatttctgccctgtgaagcc	9	12	6	14	0	4	2	3	2	2	0	5	2	4	2	2	0	2	0	2	0	1	2			TCGA-CH-5767-01A-11D-1786-08	TCGA-CH-5767-11B-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f07b8ebf-6f30-4011-b595-5571f05c364b	1ff17ff8-6ebe-4775-bc2a-07db1eadb340	g.chr1:120539834A>T	ENST00000256646.2	-	4	756	c.537T>A	c.(535-537)tgT>tgA	p.C179*	NOTCH2_ENST00000602566.1_Nonsense_Mutation_p.C140*	NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2	179	EGF-like 4. {ECO:0000255|PROSITE- ProRule:PRU00076}.				apoptotic process (GO:0006915)|atrial septum morphogenesis (GO:0060413)|bone remodeling (GO:0046849)|cell cycle arrest (GO:0007050)|cell fate determination (GO:0001709)|cell growth (GO:0016049)|ciliary body morphogenesis (GO:0061073)|determination of left/right symmetry (GO:0007368)|embryonic limb morphogenesis (GO:0030326)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|humoral immune response (GO:0006959)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|intracellular receptor signaling pathway (GO:0030522)|morphogenesis of an epithelial sheet (GO:0002011)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|placenta blood vessel development (GO:0060674)|positive regulation of apoptotic process (GO:0043065)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation (GO:0008284)|positive regulation of Ras protein signal transduction (GO:0046579)|pulmonary valve morphogenesis (GO:0003184)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell surface (GO:0009986)|cilium (GO:0005929)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|ligand-activated RNA polymerase II transcription factor binding transcription factor activity (GO:0038049)|receptor activity (GO:0004872)	p.C179*(1)|p.C140*(1)		breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		CATCAGTCTCACATTTCTGCC	0.552			"N, F, Mis"		"marginal zone lymphoma, DLBCL"				Alagille Syndrome																													ENST00000256646.2				Dom	yes		1	1p13-p11	4853	"N, F, Mis"	Notch homolog 2			L			"marginal zone lymphoma, DLBCL"		2	Substitution - Nonsense(2)	p.C179*(1)|p.C140*(1)	prostate(2)	breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158						c.(535-537)tgT>tgA		notch 2							115	89	98					1																	120539834		2202	4300	6502	SO:0001587	stop_gained	4853	Alagille Syndrome	Familial Cancer Database	ALGS1, ALGS2.Alagille-Watson syndrome	anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity	g.chr1:120539834A>T	AF315356	CCDS908.1	1p13-p11	2013-01-10	2010-06-24		ENSG00000134250	ENSG00000134250		"Ankyrin repeat domain containing"	7882	protein-coding gene	gene with protein product		600275	"Notch (Drosophila) homolog 2", "Notch homolog 2 (Drosophila)"			7698746	Standard	NM_001200001		Approved		uc001eik.3	Q04721	OTTHUMG00000012177	ENST00000256646.2:c.537T>A	1.37:g.120539834A>T	ENSP00000256646:p.Cys179*					NOTCH2_ENST00000602566.1_Nonsense_Mutation_p.C140*	p.C179*	NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)	4	756	-	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)	179			EGF-like 4.		Q5T3X7|Q99734|Q9H240	Nonsense_Mutation	SNP	ENST00000256646.2	37	c.537T>A	CCDS908.1	.	.	.	.	.	.	.	.	.	.	A	37	6.561929	0.97667	.	.	ENSG00000134250	ENST00000256646;ENST00000539617;ENST00000401649;ENST00000369342	.	.	.	5.83	3.53	0.40419	.	0.000000	0.41194	U	0.000921	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	8.8688	0.35303	0.7868:0.0:0.2132:0.0	.	.	.	.	X	179;140;152;140	.	ENSP00000256646:C179X	C	-	3	2	NOTCH2	120341357	0.976000	0.34144	0.998000	0.56505	0.933000	0.57130	0.678000	0.25277	1.020000	0.39573	0.477000	0.44152	TGT		0.552	NOTCH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033679.1	NM_024408		9	81	0	0	0	0.058154	0	9	81					T	120539834	A	T	120539834	4	4	33	1	0	0	0	0	0	1	0	0	10548	157	6	5	7002	5	NOTCH2	1	120539834	Nonsense_Mutation	SNP	A	TCGA-CH-5767-01A-11D-1786-08		120539834	128710787	1	1612											
OR2T6	254879	broad.mit.edu	37	chr1	248551568	248551568	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggtgactgcatcctacaccaGgattctcatcacagtgcatc	10	10	8	13	0	2	1	2	1	1	0	5	2	3	2	2	2	3	2	2	2	1	2			TCGA-CH-5767-01A-11D-1786-08	TCGA-CH-5767-11B-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f07b8ebf-6f30-4011-b595-5571f05c364b	1ff17ff8-6ebe-4775-bc2a-07db1eadb340	g.chr1:248551568G>T	ENST00000355728.2	+	1	659	c.659G>T	c.(658-660)aGg>aTg	p.R220M		NM_001005471.1	NP_001005471.1	Q8NHC8	OR2T6_HUMAN	olfactory receptor, family 2, subfamily T, member 6	220						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|large_intestine(5)|lung(38)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TCCTACACCAGGATTCTCATC	0.517																																						ENST00000355728.2																			0				endometrium(3)|large_intestine(5)|lung(38)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55						c.(658-660)aGg>aTg		olfactory receptor, family 2, subfamily T, member 6							290	225	247					1																	248551568		2203	4300	6503	SO:0001583	missense	254879				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248551568G>T	AF399481	CCDS31114.1	1q44	2012-08-09		2004-03-10	ENSG00000198104	ENSG00000198104		"GPCR / Class A : Olfactory receptors"	15018	protein-coding gene	gene with protein product				OR2T6P, OR2T9			Standard	NM_001005471		Approved	OST703	uc001iei.1	Q8NHC8	OTTHUMG00000040448	ENST00000355728.2:c.659G>T	1.37:g.248551568G>T	ENSP00000347965:p.Arg220Met						p.R220M	NM_001005471.1	NP_001005471.1	Q8NHC8	OR2T6_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	659	+	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		220					A6NE36	Missense_Mutation	SNP	ENST00000355728.2	37	c.659G>T	CCDS31114.1	.	.	.	.	.	.	.	.	.	.	G	6.574	0.474282	0.12521	.	.	ENSG00000198104	ENST00000355728	T	0.00063	8.78	4.13	-6.11	0.02131	GPCR, rhodopsin-like superfamily (1);	1.076350	0.07316	N	0.876816	T	0.00210	0.0006	M	0.66939	2.045	0.09310	N	1	P	0.38535	0.635	P	0.48598	0.583	T	0.03364	-1.1044	10	0.34782	T	0.22	.	5.2657	0.15597	0.5476:0.0934:0.2644:0.0946	.	220	Q8NHC8	OR2T6_HUMAN	M	220	ENSP00000347965:R220M	ENSP00000347965:R220M	R	+	2	0	OR2T6	246618191	0.000000	0.05858	0.000000	0.03702	0.034000	0.12701	-3.830000	0.00355	-1.081000	0.03105	-0.148000	0.13756	AGG		0.517	OR2T6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097344.1	NM_001005471		7	106	1	0	0.000274275	0.047766	0.000326293	7	106					T	248551568	G	T	248551568	3	4	33	1	0	0	0	0	1	0	0	0	11029	1000	35	5	661	5	OR2T6	1	248551568	Missense_Mutation	SNP	G	TCGA-CH-5767-01A-11D-1786-08	128011734	248551568	699053	2	1613											
BIRC6	57448	broad.mit.edu	37	chr2	32824954	32824954	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gcgattcaatccaaacctttAtaatgatggcaaggtaaatt	15	12	7	7	1	1	1	1	1	0	0	2	2	2	1	2	2	1	2	2	2	7	6			TCGA-CH-5767-01A-11D-1786-08	TCGA-CH-5767-11B-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f07b8ebf-6f30-4011-b595-5571f05c364b	1ff17ff8-6ebe-4775-bc2a-07db1eadb340	g.chr2:32824954A>C	ENST00000421745.2	+	70	14113	c.13979A>C	c.(13978-13980)tAt>tCt	p.Y4660S		NM_016252.3	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	4660	Ubiquitin-conjugating.				apoptotic process (GO:0006915)|labyrinthine layer development (GO:0060711)|mitotic nuclear division (GO:0007067)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cell proliferation (GO:0042127)|regulation of cytokinesis (GO:0032465)|spongiotrophoblast layer development (GO:0060712)	endosome (GO:0005768)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|midbody (GO:0030496)|spindle pole (GO:0000922)|trans-Golgi network (GO:0005802)	acid-amino acid ligase activity (GO:0016881)|cysteine-type endopeptidase inhibitor activity (GO:0004869)|ubiquitin-protein transferase activity (GO:0004842)	p.Y4660S(2)|p.Y4632S(1)		NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					CCAAACCTTTATAATGATGGC	0.333																																					Pancreas(94;175 1509 16028 18060 45422)	ENST00000421745.2																			3	Substitution - Missense(3)	p.Y4660S(2)|p.Y4632S(1)	prostate(3)	NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172						c.(13978-13980)tAt>tCt		baculoviral IAP repeat containing 6							84	81	82					2																	32824954		2203	4300	6503	SO:0001583	missense	57448				anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding	g.chr2:32824954A>C	AF265555	CCDS33175.2	2p22.3	2011-01-25	2011-01-25		ENSG00000115760	ENSG00000115760		"Baculoviral IAP repeat containing", "Ubiquitin-conjugating enzymes E2"	13516	protein-coding gene	gene with protein product	"apollon"	605638	"baculoviral IAP repeat-containing 6"			10544019	Standard	NM_016252		Approved	BRUCE	uc010ezu.3	Q9NR09	OTTHUMG00000150528	ENST00000421745.2:c.13979A>C	2.37:g.32824954A>C	ENSP00000393596:p.Tyr4660Ser						p.Y4660S	NM_016252.3	NP_057336.3	Q9NR09	BIRC6_HUMAN			70	14113	+	Acute lymphoblastic leukemia(172;0.155)		4660			Ubiquitin-conjugating.		Q9ULD1	Missense_Mutation	SNP	ENST00000421745.2	37	c.13979A>C	CCDS33175.2	.	.	.	.	.	.	.	.	.	.	A	25.3	4.619665	0.87460	.	.	ENSG00000115760	ENST00000421745	T	0.38077	1.16	5.69	5.69	0.88448	Ubiquitin-conjugating enzyme, E2 (2);Ubiquitin-conjugating enzyme/RWD-like (2);	0.000000	0.85682	D	0.000000	T	0.60663	0.2286	M	0.71036	2.16	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.64558	-0.6379	10	0.87932	D	0	.	15.9573	0.79896	1.0:0.0:0.0:0.0	.	4660	Q9NR09	BIRC6_HUMAN	S	4660	ENSP00000393596:Y4660S	ENSP00000393596:Y4660S	Y	+	2	0	BIRC6	32678458	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	8.962000	0.93254	2.156000	0.67533	0.528000	0.53228	TAT		0.333	BIRC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318769.3	NM_016252		3	39	0	0	0	0.004672	0	3	39					C	32824954	A	C	32824954	3	2	33	1	0	0	0	0	1	0	0	0	1438	449	16	5	14257	5	BIRC6	2	32824954	Missense_Mutation	SNP	A	TCGA-CH-5767-01A-11D-1786-08		32824954	210374419	3	1614											
XIRP2	129446	broad.mit.edu	37	chr2	167992447	167992447	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aattgagcgaagtttgtgctCgccagcttttaagagtcacc	10	12	10	9	2	1	2	1	1	0	1	2	3	1	2	2	0	3	3	2	0	3	4			TCGA-CH-5767-01A-11D-1786-08	TCGA-CH-5767-11B-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f07b8ebf-6f30-4011-b595-5571f05c364b	1ff17ff8-6ebe-4775-bc2a-07db1eadb340	g.chr2:167992447C>T	ENST00000409728.1	+	3	526	c.437C>T	c.(436-438)tCg>tTg	p.S146L	XIRP2-AS1_ENST00000525330.1_RNA|XIRP2_ENST00000409195.1_Missense_Mutation_p.S146L|XIRP2_ENST00000295237.9_Missense_Mutation_p.S146L|XIRP2_ENST00000409756.2_Missense_Mutation_p.S146L|XIRP2_ENST00000409043.1_Missense_Mutation_p.S146L|XIRP2_ENST00000420519.1_Missense_Mutation_p.S146L	NM_001199143.1	NP_001186072.1	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	0					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)		p.S146L(2)		NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						AGTTTGTGCTCGCCAGCTTTT	0.423																																						ENST00000409195.1																			2	Substitution - Missense(2)	p.S146L(2)	prostate(2)	NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						c.(436-438)tCg>tTg		xin actin-binding repeat containing 2							76	78	77					2																	167992447		1865	4107	5972	SO:0001583	missense	129446				actin cytoskeleton organization	cell junction	actin binding	g.chr2:167992447C>T	AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"myomaxin"	609778	"cardiomyopathy associated 3"	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409728.1:c.437C>T	2.37:g.167992447C>T	ENSP00000386619:p.Ser146Leu					XIRP2_ENST00000409728.1_Missense_Mutation_p.S146L|XIRP2_ENST00000295237.9_Missense_Mutation_p.S146L|XIRP2_ENST00000409756.2_Missense_Mutation_p.S146L|XIRP2_ENST00000420519.1_Missense_Mutation_p.S146L|XIRP2_ENST00000409043.1_Missense_Mutation_p.S146L|XIRP2-AS1_ENST00000525330.1_RNA	p.S146L	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN			3	526	+			0					A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Missense_Mutation	SNP	ENST00000409728.1	37	c.437C>T	CCDS56143.1	.	.	.	.	.	.	.	.	.	.	C	15.13	2.742350	0.49151	.	.	ENSG00000163092	ENST00000409043;ENST00000409728;ENST00000409195;ENST00000409756;ENST00000420519;ENST00000295237	T;D;T;T;D;T	0.84370	-1.49;-1.84;3.87;-1.49;-1.84;3.87	5.51	5.51	0.81932	.	.	.	.	.	D	0.92629	0.7658	.	.	.	0.34668	D	0.723459	D;D	0.89917	1.0;1.0	D;D	0.79108	0.992;0.992	D	0.95644	0.8701	8	0.87932	D	0	-0.2894	17.6029	0.88030	0.0:1.0:0.0:0.0	.	146;146	A4UGR9-4;A4UGR9-6	.;.	L	146	ENSP00000386454:S146L;ENSP00000386619:S146L;ENSP00000386840:S146L;ENSP00000386724:S146L;ENSP00000415541:S146L;ENSP00000295237:S146L	ENSP00000295237:S146L	S	+	2	0	XIRP2	167700693	1.000000	0.71417	1.000000	0.80357	0.881000	0.50899	4.938000	0.63519	2.597000	0.87782	0.591000	0.81541	TCG		0.423	XIRP2-006	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333552.1	NM_152381		28	45	0	0	0	0.030593	0	28	45					T	167992447	C	T	167992447	3	4	33	1	0	0	0	0	1	0	0	0	17427	893	31	2	443	2	XIRP2	2	167992447	Missense_Mutation	SNP	C	TCGA-CH-5767-01A-11D-1786-08	135167493	167992447	75206926	4	1615											
TTN	7273	broad.mit.edu	37	chr2	179404631	179404631	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggtatggtaagtctgatgaCgccaccttgccttacaaaga	11	11	10	9	1	1	3	0	2	1	1	1	3	1	3	3	2	2	2	3	2	4	4	rs533651182		TCGA-CH-5767-01A-11D-1786-08	TCGA-CH-5767-11B-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f07b8ebf-6f30-4011-b595-5571f05c364b	1ff17ff8-6ebe-4775-bc2a-07db1eadb340	g.chr2:179404631C>T	ENST00000591111.1	-	302	93462	c.93238G>A	c.(93238-93240)Gtc>Atc	p.V31080I	TTN-AS1_ENST00000588716.1_RNA|RP11-65L3.4_ENST00000604692.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000415561.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.V32721I|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.V23656I|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.V30153I|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.V23848I|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.V23781I			Q8WZ42	TITIN_HUMAN	titin	31080	Ig-like 139.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.V23656I(2)|p.V30153I(1)|p.V30151I(1)|p.V23848I(1)|p.V23781I(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AGTCTGATGACGCCACCTTGC	0.398													C|||	1	0.000199681	0	0	5008	,	,		24212	0.001		0	False		,,,				2504	0					ENST00000589042.1																			6	Substitution - Missense(6)	p.V23656I(2)|p.V30153I(1)|p.V30151I(1)|p.V23848I(1)|p.V23781I(1)	prostate(6)	NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(98161-98163)Gtc>Atc		titin							133	123	126					2																	179404631		1946	4154	6100	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179404631C>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.93238G>A	2.37:g.179404631C>T	ENSP00000465570:p.Val31080Ile					TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.V31080I|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.V23656I|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.V30153I|TTN_ENST00000342175.6_Missense_Mutation_p.V23848I|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.V23781I|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592600.1_RNA	p.V32721I	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		352	98385	-			31080					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.98161G>A		.	.	.	.	.	.	.	.	.	.	C	17.74	3.464891	0.63513	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.41065	1.01;1.01;1.01;1.01	6.17	6.17	0.99709	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.53238	0.1784	L	0.50333	1.59	0.49130	D	0.999752	D;D;D;D	0.55800	0.973;0.973;0.973;0.973	P;P;P;P	0.51101	0.586;0.586;0.586;0.659	T	0.51593	-0.8686	9	0.87932	D	0	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	23656;23781;23848;31080	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	I	30153;23656;23848;23781;23653	ENSP00000343764:V30153I;ENSP00000434586:V23656I;ENSP00000340554:V23848I;ENSP00000352154:V23781I	ENSP00000340554:V23848I	V	-	1	0	TTN	179112877	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.026000	0.70873	2.941000	0.99782	0.655000	0.94253	GTC		0.398	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		24	55	0	0	0	0.099896	0	24	55					T	179404631	C	T	179404631	3	4	33	1	0	0	0	0	1	0	0	0	16732	536	19	1	9862	1	TTN	2	179404631	Missense_Mutation	SNP	C	TCGA-CH-5767-01A-11D-1786-08	11412184	179404631	63794742	5	1616											
TTN	7273	broad.mit.edu	37	chr2	179585679	179585679	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacgctgtgctgcagctggcGtcaccaacaccattatgagc	10	8	10	13	2	1	1	1	1	0	0	1	1	1	1	2	1	6	4	2	1	3	1	rs191854953		TCGA-CH-5767-01A-11D-1786-08	TCGA-CH-5767-11B-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f07b8ebf-6f30-4011-b595-5571f05c364b	1ff17ff8-6ebe-4775-bc2a-07db1eadb340	g.chr2:179585679G>A	ENST00000591111.1	-	77	22340	c.22116C>T	c.(22114-22116)gaC>gaT	p.D7372D	RP11-171I2.1_ENST00000590024.1_RNA|TTN_ENST00000589042.1_Silent_p.D7689D|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Silent_p.D6445D|TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron			Q8WZ42	TITIN_HUMAN	titin	12932	Ig-like 55.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.D6445D(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGCAGCTGGCGTCACCAACAC	0.433													G|||	1	0.000199681	0	0.0014	5008	,	,		18623	0		0	False		,,,				2504	0					ENST00000589042.1																			1	Substitution - coding silent(1)	p.D6445D(1)	prostate(1)	NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(23065-23067)gaC>gaT		titin		G	,,,	0,4110		0,0,2055	70	71	71		,19335,,	-12.3	0	2		71	1,8415		0,1,4207	no	intron,coding-synonymous,intron,intron	TTN	NM_003319.4,NM_133378.4,NM_133432.3,NM_133437.3	,,,	0,1,6262	AA,AG,GG		0.0119,0.0,0.0080	,,,	,6445/33424,,	179585679	1,12525	2055	4208	6263	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179585679G>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.22116C>T	2.37:g.179585679G>A						TTN_ENST00000591111.1_Silent_p.D7372D|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Silent_p.D6445D|TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron	p.D7689D	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		79	23291	-			7372			Ig-like 59.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	ENST00000591111.1	37	c.23067C>T																																																																																					0.433	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		20	44	0	0	0	0.055883	0	20	44					A	179585679	G	A	179585679	2	1	33	1	0	0	0	0	0	0	0	1	16732	1136	40	1		1	TTN	2	179585679	Silent	SNP	G	TCGA-CH-5767-01A-11D-1786-08	181048	179585679	63613694	6	1617											
ZNF621	285268	broad.mit.edu	37	chr3	40573524	40573524	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gtggtttctttggtcaggtgGtgagtcctggatcaaaaatg	8	14	14	5	0	3	1	2	1	1	0	4	2	4	2	1	5	0	1	1	5	2	2			TCGA-CH-5767-01A-11D-1786-08	TCGA-CH-5767-11B-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f07b8ebf-6f30-4011-b595-5571f05c364b	1ff17ff8-6ebe-4775-bc2a-07db1eadb340	g.chr3:40573524G>A	ENST00000339296.5	+	5	715	c.263G>A	c.(262-264)gGt>gAt	p.G88D	ZNF621_ENST00000490457.1_Intron|ZNF621_ENST00000310898.1_Missense_Mutation_p.G88D|ZNF621_ENST00000403205.2_Missense_Mutation_p.G88D|ZNF621_ENST00000431278.1_5'UTR	NM_198484.3	NP_940886.1	Q6ZSS3	ZN621_HUMAN	zinc finger protein 621	88					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.G88D(1)		endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	21				KIRC - Kidney renal clear cell carcinoma(284;0.0515)|Kidney(284;0.0648)		TGGTCAGGTGGTGAGTCCTGG	0.403																																						ENST00000339296.5																			1	Substitution - Missense(1)	p.G88D(1)	prostate(1)	endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	21						c.(262-264)gGt>gAt		zinc finger protein 621							65	72	69					3																	40573524		2203	4300	6503	SO:0001583	missense	285268				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr3:40573524G>A	AK127181	CCDS2693.1, CCDS74920.1	3p21.33	2013-01-08			ENSG00000172888	ENSG00000172888		"Zinc fingers, C2H2-type", "-"	24787	protein-coding gene	gene with protein product							Standard	XM_005265079		Approved	FLJ45246	uc003ckm.2	Q6ZSS3	OTTHUMG00000131389	ENST00000339296.5:c.263G>A	3.37:g.40573524G>A	ENSP00000340841:p.Gly88Asp					ZNF621_ENST00000310898.1_Missense_Mutation_p.G88D|ZNF621_ENST00000403205.2_Missense_Mutation_p.G88D|ZNF621_ENST00000490457.1_Intron|ZNF621_ENST00000431278.1_5'UTR	p.G88D	NM_198484.3	NP_940886.1	Q6ZSS3	ZN621_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0515)|Kidney(284;0.0648)	5	715	+			88					Q14DC7|Q8TE91	Missense_Mutation	SNP	ENST00000339296.5	37	c.263G>A	CCDS2693.1	.	.	.	.	.	.	.	.	.	.	g	8.240	0.806684	0.16467	.	.	ENSG00000172888	ENST00000403205;ENST00000310898;ENST00000339296;ENST00000453351	T;T;T;T	0.06142	3.34;5.4;3.34;5.44	4.17	-8.19	0.01049	.	1.147880	0.06722	N	0.775018	T	0.04407	0.0121	L	0.31845	0.965	0.09310	N	1	B;B	0.13145	0.007;0.0	B;B	0.12156	0.007;0.001	T	0.39522	-0.9610	10	0.33940	T	0.23	.	7.5378	0.27721	0.1534:0.6004:0.1435:0.1028	.	88;88	C9JM43;Q6ZSS3	.;ZN621_HUMAN	D	88	ENSP00000386051:G88D;ENSP00000312144:G88D;ENSP00000340841:G88D;ENSP00000408779:G88D	ENSP00000312144:G88D	G	+	2	0	ZNF621	40548528	0.002000	0.14202	0.000000	0.03702	0.103000	0.19146	-0.055000	0.11807	-1.884000	0.01119	-0.150000	0.13652	GGT		0.403	ZNF621-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254178.2	NM_198484		13	81	0	0	0	0.105934	0	13	81					A	40573524	G	A	40573524	3	1	33	1	0	0	0	0	1	0	0	0	18042	1261	44	3	277	3	ZNF621	3	40573524	Missense_Mutation	SNP	G	TCGA-CH-5767-01A-11D-1786-08		40573524	157448906	7	1618											
SEC61A1	29927	broad.mit.edu	37	chr3	127779441	127779441	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtatttctctcttcattgcaActaacatctgtgaaaccatc	11	15	4	11	0	4	1	1	1	3	0	6	1	4	1	1	0	4	2	1	0	4	5			TCGA-CH-5767-01A-11D-1786-08	TCGA-CH-5767-11B-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f07b8ebf-6f30-4011-b595-5571f05c364b	1ff17ff8-6ebe-4775-bc2a-07db1eadb340	g.chr3:127779441A>G	ENST00000243253.3	+	7	737	c.553A>G	c.(553-555)Act>Gct	p.T185A	SEC61A1_ENST00000464451.1_Missense_Mutation_p.T191A|SEC61A1_ENST00000424880.2_Missense_Mutation_p.T65A	NM_013336.3	NP_037468.1	P61619	S61A1_HUMAN	Sec61 alpha 1 subunit (S. cerevisiae)	185					antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cell growth (GO:0016049)|endoplasmic reticulum organization (GO:0007029)|posttranslational protein targeting to membrane (GO:0006620)|protein targeting to ER (GO:0045047)|response to interferon-gamma (GO:0034341)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)	integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)|rough endoplasmic reticulum (GO:0005791)	ribosome binding (GO:0043022)	p.T185A(1)		central_nervous_system(1)|kidney(1)|large_intestine(5)|liver(1)|lung(8)|ovary(1)|prostate(4)	21						CTTCATTGCAACTAACATCTG	0.478																																						ENST00000243253.3																			1	Substitution - Missense(1)	p.T185A(1)	prostate(1)	central_nervous_system(1)|kidney(1)|large_intestine(5)|liver(1)|lung(8)|ovary(1)|prostate(4)	21						c.(553-555)Act>Gct		Sec61 alpha 1 subunit (S. cerevisiae)							144	130	135					3																	127779441		2203	4300	6503	SO:0001583	missense	29927				protein targeting to ER	integral to endoplasmic reticulum membrane	P-P-bond-hydrolysis-driven protein transmembrane transporter activity|protein binding|ribosome binding	g.chr3:127779441A>G	AF077032	CCDS3046.1	3q21.3	2008-02-05			ENSG00000058262	ENSG00000058262			18276	protein-coding gene	gene with protein product		609213					Standard	NM_013336		Approved		uc003ekb.3	P61619	OTTHUMG00000159624	ENST00000243253.3:c.553A>G	3.37:g.127779441A>G	ENSP00000243253:p.Thr185Ala					SEC61A1_ENST00000424880.2_Missense_Mutation_p.T65A|SEC61A1_ENST00000464451.1_Missense_Mutation_p.T191A	p.T185A	NM_013336.3	NP_037468.1	P61619	S61A1_HUMAN			7	737	+			185					P38378|P57726|Q5JPF8|Q8N0Z4|Q8N3U3|Q8NC71|Q9BU16|Q9Y2R3	Missense_Mutation	SNP	ENST00000243253.3	37	c.553A>G	CCDS3046.1	.	.	.	.	.	.	.	.	.	.	A	15.21	2.767208	0.49574	.	.	ENSG00000058262	ENST00000464451;ENST00000243253;ENST00000424880	.	.	.	5.45	5.45	0.79879	SecY subunit domain (2);	0.046064	0.85682	D	0.000000	T	0.45054	0.1323	N	0.20986	0.625	0.80722	D	1	B	0.17268	0.021	B	0.26969	0.075	T	0.34104	-0.9842	9	0.15066	T	0.55	.	15.542	0.76057	1.0:0.0:0.0:0.0	.	185	P61619	S61A1_HUMAN	A	191;185;65	.	ENSP00000243253:T185A	T	+	1	0	SEC61A1	129262131	1.000000	0.71417	0.110000	0.21437	0.411000	0.31082	9.296000	0.96104	2.064000	0.61679	0.533000	0.62120	ACT		0.478	SEC61A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356541.2	NM_013336		29	45	0	0	0	0.037714	0	29	45					G	127779441	A	G	127779441	3	3	33	1	0	0	0	0	1	0	0	0	14000	43	2	4	579	4	SEC61A1	3	127779441	Missense_Mutation	SNP	A	TCGA-CH-5767-01A-11D-1786-08	87205917	127779441	70242989	8	1619											
PIK3R4	30849	broad.mit.edu	37	chr3	130435328	130435328	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaccatttcgtttcttctgaCgcatgtgaagatgtctgaac	10	14	8	9	2	3	4	0	3	3	1	4	4	3	4	1	0	2	2	1	0	3	3			TCGA-CH-5767-01A-11D-1786-08	TCGA-CH-5767-11B-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f07b8ebf-6f30-4011-b595-5571f05c364b	1ff17ff8-6ebe-4775-bc2a-07db1eadb340	g.chr3:130435328C>T	ENST00000356763.3	-	9	2800	c.2243G>A	c.(2242-2244)cGt>cAt	p.R748H		NM_014602.2	NP_055417.1	Q99570	PI3R4_HUMAN	phosphoinositide-3-kinase, regulatory subunit 4	748					innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|protein phosphorylation (GO:0006468)|small molecule metabolic process (GO:0044281)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	axoneme (GO:0005930)|cytosol (GO:0005829)|late endosome (GO:0005770)|membrane (GO:0016020)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.R748H(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(6)|large_intestine(16)|lung(28)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	77						TTTCTTCTGACGCATGTGAAG	0.443																																						ENST00000356763.3																			1	Substitution - Missense(1)	p.R748H(1)	prostate(1)	NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(6)|large_intestine(16)|lung(28)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	77						c.(2242-2244)cGt>cAt		phosphoinositide-3-kinase, regulatory subunit 4							104	104	104					3																	130435328		2203	4300	6503	SO:0001583	missense	30849				fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway	cytosol	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr3:130435328C>T	Y08991	CCDS3067.1	3q22.1	2013-01-10	2008-02-04		ENSG00000196455	ENSG00000196455		"WD repeat domain containing"	8982	protein-coding gene	gene with protein product		602610				8999962	Standard	NM_014602		Approved	VPS15, p150	uc003enj.3	Q99570	OTTHUMG00000159645	ENST00000356763.3:c.2243G>A	3.37:g.130435328C>T	ENSP00000349205:p.Arg748His						p.R748H	NM_014602.2	NP_055417.1	Q99570	PI3R4_HUMAN			9	2800	-			748					Q2TBF4	Missense_Mutation	SNP	ENST00000356763.3	37	c.2243G>A	CCDS3067.1	.	.	.	.	.	.	.	.	.	.	C	34	5.297477	0.95574	.	.	ENSG00000196455	ENST00000356763;ENST00000508273;ENST00000507330;ENST00000512430	T;T;T;T	0.42131	0.98;0.98;0.98;0.98	5.21	5.21	0.72293	.	0.104318	0.64402	D	0.000003	T	0.63965	0.2556	M	0.63843	1.955	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.65676	-0.6110	10	0.59425	D	0.04	-17.763	18.7681	0.91881	0.0:1.0:0.0:0.0	.	748	Q99570	PI3R4_HUMAN	H	748;107;107;107	ENSP00000349205:R748H;ENSP00000427302:R107H;ENSP00000424274:R107H;ENSP00000422767:R107H	ENSP00000349205:R748H	R	-	2	0	PIK3R4	131918018	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.487000	0.81328	2.439000	0.82584	0.655000	0.94253	CGT		0.443	PIK3R4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356668.1	NM_014602		5	101	0	0	0	0.014758	0	5	101					T	130435328	C	T	130435328	3	4	33	1	0	0	0	0	1	0	0	0	11921	536	19	1	1881	1	PIK3R4	3	130435328	Missense_Mutation	SNP	C	TCGA-CH-5767-01A-11D-1786-08	2655887	130435328	67587102	9	1620											
DRD5	1816	broad.mit.edu	37	chr4	9783992	9783992	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tggccctttggagcgttctgCgacgtctgggtggccttcga	3	12	15	11	4	2	0	0	0	2	0	3	3	2	1	2	4	2	1	2	4	0	3	rs370317852		TCGA-CH-5767-01A-11D-1786-08	TCGA-CH-5767-11B-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f07b8ebf-6f30-4011-b595-5571f05c364b	1ff17ff8-6ebe-4775-bc2a-07db1eadb340	g.chr4:9783992C>T	ENST00000304374.2	+	1	735	c.339C>T	c.(337-339)tgC>tgT	p.C113C		NM_000798.4	NP_000789.1	P21918	DRD5_HUMAN	dopamine receptor D5	113					activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|associative learning (GO:0008306)|cellular calcium ion homeostasis (GO:0006874)|cellular response to catecholamine stimulus (GO:0071870)|long term synaptic depression (GO:0060292)|negative regulation of blood pressure (GO:0045776)|negative regulation of NAD(P)H oxidase activity (GO:0033861)|norepinephrine-epinephrine vasoconstriction involved in regulation of systemic arterial blood pressure (GO:0001994)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of adenylate cyclase activity involved in G-protein coupled receptor signaling pathway (GO:0010579)|reactive oxygen species metabolic process (GO:0072593)|regulation of female receptivity (GO:0045924)|regulation of systemic arterial blood pressure by vasopressin (GO:0001992)|response to amphetamine (GO:0001975)|response to cocaine (GO:0042220)|sensitization (GO:0046960)|synaptic transmission (GO:0007268)|synaptic transmission, dopaminergic (GO:0001963)|transmission of nerve impulse (GO:0019226)|wound healing (GO:0042060)	brush border membrane (GO:0031526)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	dopamine binding (GO:0035240)|dopamine neurotransmitter receptor activity (GO:0004952)|dopamine neurotransmitter receptor activity, coupled via Gs (GO:0001588)	p.C113C(1)		NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1)	57					Apomorphine(DB00714)|Aripiprazole(DB01238)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Cinnarizine(DB00568)|Dopamine(DB00988)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Imipramine(DB00458)|L-DOPA(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Pergolide(DB01186)|Pramipexole(DB00413)|Quetiapine(DB01224)|Ropinirole(DB00268)|Rotigotine(DB05271)|Trimipramine(DB00726)|Ziprasidone(DB00246)	GAGCGTTCTGCGACGTCTGGG	0.627																																						ENST00000304374.2																			1	Substitution - coding silent(1)	p.C113C(1)	prostate(1)	NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1)	57						c.(337-339)tgC>tgT		dopamine receptor D5	Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624)						51	49	50					4																	9783992		2203	4300	6503	SO:0001819	synonymous_variant	0				activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|cellular calcium ion homeostasis|negative regulation of NAD(P)H oxidase activity|reactive oxygen species metabolic process|synaptic transmission, dopaminergic	integral to plasma membrane		g.chr4:9783992C>T	X58454	CCDS3405.1	4p16.1	2012-08-08			ENSG00000169676	ENSG00000169676		"GPCR / Class A : Dopamine receptors"	3026	protein-coding gene	gene with protein product		126453		DRD1L2		1774076	Standard	NM_000798		Approved	DRD1B	uc003gmb.4	P21918	OTTHUMG00000128489	ENST00000304374.2:c.339C>T	4.37:g.9783992C>T							p.C113C	NM_000798.4	NP_000789.1	P21918	DRD5_HUMAN			1	735	+			113					B2R9S3|Q8NEQ8	Silent	SNP	ENST00000304374.2	37	c.339C>T	CCDS3405.1																																																																																				0.627	DRD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250293.1			25	28	0	0	0	0.076483	0	25	28					T	9783992	C	T	9783992	2	4	33	1	0	0	0	0	0	0	0	1	4760	776	27	1		1	DRD5	4	9783992	Silent	SNP	C	TCGA-CH-5767-01A-11D-1786-08		9783992	181370284	10	1621											
CHD1	1105	broad.mit.edu	37	chr5	98218811	98218811	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cctgtttcttttgcccaattCgatgggctctagcctgtgcc	4	15	9	13	1	2	0	0	0	2	0	3	1	2	0	4	1	3	2	4	1	2	5			TCGA-CH-5767-01A-11D-1786-08	TCGA-CH-5767-11B-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f07b8ebf-6f30-4011-b595-5571f05c364b	1ff17ff8-6ebe-4775-bc2a-07db1eadb340	g.chr5:98218811C>T	ENST00000284049.3	-	18	2848	c.2699G>A	c.(2698-2700)cGa>cAa	p.R900Q		NM_001270.2	NP_001261.2	O14646	CHD1_HUMAN	chromodomain helicase DNA binding protein 1	900	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|methylated histone binding (GO:0035064)	p.R900Q(1)		NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	49		all_cancers(142;5.36e-08)|all_epithelial(76;6.97e-11)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|all_lung(232;0.00119)|Ovarian(225;0.024)|Colorectal(57;0.117)		COAD - Colon adenocarcinoma(37;0.0717)	Epirubicin(DB00445)	TTGCCCAATTCGATGGGCTCT	0.338																																						ENST00000284049.3																			1	Substitution - Missense(1)	p.R900Q(1)	prostate(1)	NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	49						c.(2698-2700)cGa>cAa		chromodomain helicase DNA binding protein 1	Epirubicin(DB00445)						35	33	34					5																	98218811		2203	4300	6503	SO:0001583	missense	1105				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|methylated histone residue binding	g.chr5:98218811C>T	AF006513	CCDS34204.1	5q15-q21	2008-07-18			ENSG00000153922	ENSG00000153922			1915	protein-coding gene	gene with protein product		602118				8460153, 9326634	Standard	XM_005271866		Approved		uc003knf.3	O14646	OTTHUMG00000162744	ENST00000284049.3:c.2699G>A	5.37:g.98218811C>T	ENSP00000284049:p.Arg900Gln						p.R900Q	NM_001270.2	NP_001261.2	O14646	CHD1_HUMAN		COAD - Colon adenocarcinoma(37;0.0717)	18	2848	-		all_cancers(142;5.36e-08)|all_epithelial(76;6.97e-11)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|all_lung(232;0.00119)|Ovarian(225;0.024)|Colorectal(57;0.117)	900			Helicase C-terminal.		Q17RZ3	Missense_Mutation	SNP	ENST00000284049.3	37	c.2699G>A	CCDS34204.1	.	.	.	.	.	.	.	.	.	.	C	34	5.394381	0.96009	.	.	ENSG00000153922	ENST00000284049	D	0.97870	-4.58	5.27	5.27	0.74061	Helicase, C-terminal (3);	0.000000	0.29009	U	0.013428	D	0.99426	0.9797	H	0.99498	4.595	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98113	1.0421	10	0.87932	D	0	.	19.2691	0.94002	0.0:1.0:0.0:0.0	.	900	O14646	CHD1_HUMAN	Q	900	ENSP00000284049:R900Q	ENSP00000284049:R900Q	R	-	2	0	CHD1	98246711	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.818000	0.86416	2.630000	0.89119	0.591000	0.81541	CGA		0.338	CHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370295.1	NM_001270		10	22	0	0	0	0.058154	0	10	22					T	98218811	C	T	98218811	3	4	33	1	0	0	0	0	1	0	0	0	3323	884	31	2	2505	2	CHD1	5	98218811	Missense_Mutation	SNP	C	TCGA-CH-5767-01A-11D-1786-08		98218811	82696449	11	1622											
YTHDC2	64848	broad.mit.edu	37	chr5	112876726	112876726	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caagaaaatagtttcaagccTgaatctcagaggcagagaac	17	7	9	8	0	2	4	2	1	1	3	3	5	2	4	1	1	2	2	1	1	7	2			TCGA-CH-5767-01A-11D-1786-08	TCGA-CH-5767-11B-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f07b8ebf-6f30-4011-b595-5571f05c364b	1ff17ff8-6ebe-4775-bc2a-07db1eadb340	g.chr5:112876726T>C	ENST00000161863.4	+	9	1485	c.1272T>C	c.(1270-1272)ccT>ccC	p.P424P	YTHDC2_ENST00000515883.1_Silent_p.P424P	NM_022828.3	NP_073739.3	Q9H6S0	YTDC2_HUMAN	YTH domain containing 2	424					ATP catabolic process (GO:0006200)|positive regulation by host of viral genome replication (GO:0044829)|response to interleukin-1 (GO:0070555)|response to tumor necrosis factor (GO:0034612)	endoplasmic reticulum (GO:0005783)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|RNA polymerase binding (GO:0070063)|RNA-dependent ATPase activity (GO:0008186)	p.P424P(1)		NS(2)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(13)|lung(10)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43		all_cancers(142;7.69e-05)|all_epithelial(76;6.42e-07)|Colorectal(10;0.00278)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Lung NSC(810;0.143)|all_lung(232;0.163)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;7.2e-08)|Epithelial(69;8.83e-08)|all cancers(49;6.9e-06)|COAD - Colon adenocarcinoma(37;0.0458)|Colorectal(14;0.0594)		GTTTCAAGCCTGAATCTCAGA	0.383																																						ENST00000161863.4																			1	Substitution - coding silent(1)	p.P424P(1)	prostate(1)	NS(2)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(13)|lung(10)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43						c.(1270-1272)ccT>ccC		YTH domain containing 2							164	152	156					5																	112876726		2202	4300	6502	SO:0001819	synonymous_variant	64848						ATP binding|ATP-dependent helicase activity|nucleic acid binding	g.chr5:112876726T>C	AK000915	CCDS4113.1	5q22.3	2008-02-05			ENSG00000047188	ENSG00000047188			24721	protein-coding gene	gene with protein product						12477932	Standard	NM_022828		Approved	FLJ2194, FLJ10053, DKFZp564A186	uc003kqn.3	Q9H6S0	OTTHUMG00000128837	ENST00000161863.4:c.1272T>C	5.37:g.112876726T>C						YTHDC2_ENST00000515883.1_Silent_p.P424P	p.P424P	NM_022828.3	NP_073739.3	Q9H6S0	YTDC2_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;7.2e-08)|Epithelial(69;8.83e-08)|all cancers(49;6.9e-06)|COAD - Colon adenocarcinoma(37;0.0458)|Colorectal(14;0.0594)	9	1485	+		all_cancers(142;7.69e-05)|all_epithelial(76;6.42e-07)|Colorectal(10;0.00278)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Lung NSC(810;0.143)|all_lung(232;0.163)|Breast(839;0.244)	424					B2RP66	Silent	SNP	ENST00000161863.4	37	c.1272T>C	CCDS4113.1																																																																																				0.383	YTHDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250776.2	NM_022828		3	68	0	0	0	0.004672	0	3	68					C	112876726	T	C	112876726	2	2	33	1	0	0	0	0	0	0	0	1	17494	1567	55	4		4	YTHDC2	5	112876726	Silent	SNP	T	TCGA-CH-5767-01A-11D-1786-08	14657915	112876726	68038534	12	1623											
PCDHGA6	56109	broad.mit.edu	37	chr5	140754115	140754115	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcctctcgttttccactaatGgaggtctatgaccctgatgt	7	15	8	11	1	2	2	0	2	2	0	5	3	4	3	3	2	0	1	3	2	2	4			TCGA-CH-5767-01A-11D-1786-08	TCGA-CH-5767-11B-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f07b8ebf-6f30-4011-b595-5571f05c364b	1ff17ff8-6ebe-4775-bc2a-07db1eadb340	g.chr5:140754115G>A	ENST00000517434.1	+	1	465	c.465G>A	c.(463-465)atG>atA	p.M155I	PCDHGA3_ENST00000253812.6_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018919.2|NM_032086.1	NP_061742.1|NP_114475.1	Q9Y5G7	PCDG6_HUMAN	protocadherin gamma subfamily A, 6	155	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.M155I(1)		breast(1)|large_intestine(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTCCACTAATGGAGGTCTATG	0.448																																						ENST00000517434.1																			1	Substitution - Missense(1)	p.M155I(1)	prostate(1)	breast(1)|large_intestine(1)	2						c.(463-465)atG>atA									45	44	44					5																	140754115		1898	4118	6016	SO:0001583	missense	0							g.chr5:140754115G>A	AF152513	CCDS54926.1, CCDS75335.1	5q31	2010-01-26				ENSG00000253731		"Cadherins / Protocadherins : Clustered"	8704	other	protocadherin		606293				10380929	Standard	NM_018919		Approved	PCDH-GAMMA-A6		Q9Y5G7		ENST00000517434.1:c.465G>A	5.37:g.140754115G>A	ENSP00000429601:p.Met155Ile					PCDHGB1_ENST00000523390.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA5_ENST00000518069.1_Intron	p.M155I	NM_018919.2|NM_032086.1	NP_061742.1|NP_114475.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	465	+								A6H8K7|B2RN55|Q9Y5D1	Missense_Mutation	SNP	ENST00000517434.1	37	c.465G>A	CCDS54926.1	.	.	.	.	.	.	.	.	.	.	.	10.15	1.270365	0.23221	.	.	ENSG00000253731	ENST00000517434	T	0.49139	0.79	5.11	3.32	0.38043	Cadherin (4);Cadherin-like (1);	33.775500	0.01339	U	0.011506	T	0.27098	0.0664	N	0.03891	-0.335	0.19575	N	0.999962	B;B	0.16166	0.002;0.016	B;B	0.15052	0.004;0.012	T	0.22521	-1.0214	10	0.56958	D	0.05	.	3.5235	0.07751	0.2993:0.1941:0.5065:0.0	.	155;155	Q9Y5G7-2;Q9Y5G7	.;PCDG6_HUMAN	I	155	ENSP00000429601:M155I	ENSP00000429601:M155I	M	+	3	0	PCDHGA6	140734299	0.000000	0.05858	0.999000	0.59377	0.896000	0.52359	-1.587000	0.02108	1.513000	0.48852	0.563000	0.77884	ATG		0.448	PCDHGA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374743.1	NM_018919		3	49	0	0	0	0.004672	0	3	49					A	140754115	G	A	140754115	3	1	33	1	0	0	0	0	1	0	0	0	11558	1348	47	3	467	3	PCDHGA6	5	140754115	Missense_Mutation	SNP	G	TCGA-CH-5767-01A-11D-1786-08	27877389	140754115	40161145	13	1624											
MYLIP	29116	broad.mit.edu	37	chr6	16145318	16145318	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggcgttgtggacctcgttTcaagaaacaaccagagccct	10	9	10	12	2	1	2	1	0	0	2	2	3	1	3	3	2	3	2	3	2	3	2			TCGA-CH-5767-01A-11D-1786-08	TCGA-CH-5767-11B-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f07b8ebf-6f30-4011-b595-5571f05c364b	1ff17ff8-6ebe-4775-bc2a-07db1eadb340	g.chr6:16145318T>C	ENST00000356840.3	+	6	1216	c.1018T>C	c.(1018-1020)Tca>Cca	p.S340P	MYLIP_ENST00000349606.4_Missense_Mutation_p.S159P	NM_013262.3	NP_037394.2	Q8WY64	MYLIP_HUMAN	myosin regulatory light chain interacting protein	340					cellular component movement (GO:0006928)|cholesterol homeostasis (GO:0042632)|negative regulation of low-density lipoprotein particle clearance (GO:0010989)|nervous system development (GO:0007399)|positive regulation of protein catabolic process (GO:0045732)|protein destabilization (GO:0031648)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of low-density lipoprotein particle receptor catabolic process (GO:0032803)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	cytoskeletal protein binding (GO:0008092)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.S340P(1)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28	Breast(50;0.0799)|Ovarian(93;0.103)	all_hematologic(90;0.0895)	Epithelial(50;0.241)			GGACCTCGTTTCAAGAAACAA	0.517																																						ENST00000349606.4																			1	Substitution - Missense(1)	p.S340P(1)	prostate(1)	breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28						c.(475-477)Tca>Cca		myosin regulatory light chain interacting protein							103	107	106					6																	16145318		2203	4300	6503	SO:0001583	missense	29116				cellular component movement|nervous system development	cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr6:16145318T>C	AF187016	CCDS4536.1	6p23-p22.3	2011-11-17			ENSG00000007944	ENSG00000007944			21155	protein-coding gene	gene with protein product	"E3 ubiquitin ligase-inducible degrader of the low density lipoprotein receptor"	610082				10593918, 11162443, 19688294	Standard	NM_013262		Approved	MIR, IDOL	uc003nbq.3	Q8WY64	OTTHUMG00000016405	ENST00000356840.3:c.1018T>C	6.37:g.16145318T>C	ENSP00000349298:p.Ser340Pro					MYLIP_ENST00000356840.3_Missense_Mutation_p.S340P	p.S159P			Q8WY64	MYLIP_HUMAN	Epithelial(50;0.241)		5	979	+	Breast(50;0.0799)|Ovarian(93;0.103)	all_hematologic(90;0.0895)	340			FERM.		Q5TIA4|Q9BU73|Q9NRL9|Q9UHE7	Missense_Mutation	SNP	ENST00000356840.3	37	c.475T>C	CCDS4536.1	.	.	.	.	.	.	.	.	.	.	T	10.95	1.495719	0.26774	.	.	ENSG00000007944	ENST00000356840;ENST00000349606	D;T	0.81996	-1.56;1.12	5.65	2.04	0.26737	.	0.150898	0.64402	N	0.000008	T	0.42539	0.1207	N	0.02539	-0.55	0.58432	D	0.99999	B	0.06786	0.001	B	0.08055	0.003	T	0.35101	-0.9802	10	0.46703	T	0.11	.	8.7115	0.34387	0.0:0.2222:0.0:0.7778	.	340	Q8WY64	MYLIP_HUMAN	P	340;159	ENSP00000349298:S340P;ENSP00000008686:S159P	ENSP00000008686:S159P	S	+	1	0	MYLIP	16253297	0.810000	0.29049	0.010000	0.14722	0.543000	0.35085	1.232000	0.32636	0.520000	0.28426	0.533000	0.62120	TCA		0.517	MYLIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043864.1	NM_013262		10	123	0	0	0	0.069234	0	10	123					C	16145318	T	C	16145318	3	2	33	1	0	0	0	0	1	0	0	0	10055	1783	62	4	1040	4	MYLIP	6	16145318	Missense_Mutation	SNP	T	TCGA-CH-5767-01A-11D-1786-08		16145318	154969749	14	1625											
BTBD9	114781	broad.mit.edu	37	chr6	38548004	38548004	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aatcacttaccggctatctcGgtcccacaagagtatccgta	11	10	7	13	3	2	1	1	0	1	1	5	1	4	1	3	2	1	3	3	2	6	4			TCGA-CH-5767-01A-11D-1786-08	TCGA-CH-5767-11B-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f07b8ebf-6f30-4011-b595-5571f05c364b	1ff17ff8-6ebe-4775-bc2a-07db1eadb340	g.chr6:38548004G>A	ENST00000481247.1	-	5	1175	c.1024C>T	c.(1024-1026)Cga>Tga	p.R342*	BTBD9_ENST00000314100.6_Nonsense_Mutation_p.R274*|BTBD9_ENST00000403056.1_Nonsense_Mutation_p.R342*|BTBD9_ENST00000419706.2_Nonsense_Mutation_p.R283*|BTBD9_ENST00000408958.1_Nonsense_Mutation_p.R274*	NM_001099272.1|NM_052893.1	NP_001092742.1|NP_443125.1	Q96Q07	BTBD9_HUMAN	BTB (POZ) domain containing 9	342					adult locomotory behavior (GO:0008344)|cell adhesion (GO:0007155)|circadian sleep/wake cycle, non-REM sleep (GO:0042748)|long-term memory (GO:0007616)|multicellular organismal iron ion homeostasis (GO:0060586)|regulation of synaptic vesicle endocytosis (GO:1900242)|sensory perception of temperature stimulus (GO:0050951)|serotonin metabolic process (GO:0042428)			p.R274*(2)|p.R342*(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(3)|prostate(1)	12						CGGCTATCTCGGTCCCACAAG	0.413																																						ENST00000481247.1																			3	Substitution - Nonsense(3)	p.R274*(2)|p.R342*(1)	prostate(3)	breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(3)|prostate(1)	12						c.(1024-1026)Cga>Tga		BTB (POZ) domain containing 9							97	93	94					6																	38548004		1892	4113	6005	SO:0001587	stop_gained	114781				cell adhesion			g.chr6:38548004G>A		CCDS43458.1, CCDS47418.1, CCDS54998.1	6p21	2014-01-28			ENSG00000183826	ENSG00000183826		"BTB/POZ domain containing"	21228	protein-coding gene	gene with protein product		611237				11572484	Standard	NM_052893		Approved	KIAA1880, dJ322I12.1	uc010jwx.3	Q96Q07	OTTHUMG00000014634	ENST00000481247.1:c.1024C>T	6.37:g.38548004G>A	ENSP00000418751:p.Arg342*					BTBD9_ENST00000419706.2_Nonsense_Mutation_p.R283*|BTBD9_ENST00000403056.1_Nonsense_Mutation_p.R342*|BTBD9_ENST00000408958.1_Nonsense_Mutation_p.R274*|BTBD9_ENST00000314100.6_Nonsense_Mutation_p.R274*	p.R342*	NM_001099272.1|NM_052893.1	NP_001092742.1|NP_443125.1	Q96Q07	BTBD9_HUMAN			5	1175	-			342					Q494V9|Q494W1|Q96M00	Nonsense_Mutation	SNP	ENST00000481247.1	37	c.1024C>T	CCDS47418.1	.	.	.	.	.	.	.	.	.	.	G	39	7.519674	0.98335	.	.	ENSG00000183826	ENST00000314100;ENST00000481247;ENST00000419706;ENST00000403056;ENST00000408958	.	.	.	5.63	5.63	0.86233	.	0.102853	0.64402	D	0.000005	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.3883	0.74723	0.0:0.0:0.8523:0.1477	.	.	.	.	X	274;342;283;342;274	.	ENSP00000323408:R274X	R	-	1	2	BTBD9	38655982	1.000000	0.71417	1.000000	0.80357	0.589000	0.36550	2.995000	0.49441	2.665000	0.90641	0.655000	0.94253	CGA		0.413	BTBD9-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040433.2	NM_152733		4	38	0	0	0	0.009096	0	4	38					A	38548004	G	A	38548004	4	1	33	1	0	0	0	0	0	1	0	0	1548	1124	39	2	933	2	BTBD9	6	38548004	Nonsense_Mutation	SNP	G	TCGA-CH-5767-01A-11D-1786-08	22402686	38548004	132567063	15	1626											
MOCS1	4337	broad.mit.edu	37	chr6	39880665	39880665	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gctggattcctcctctggcaCcttctccagctctggccact	4	12	8	17	0	3	0	0	0	3	0	6	1	5	1	5	3	1	3	5	3	0	2			TCGA-CH-5767-01A-11D-1786-08	TCGA-CH-5767-11B-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f07b8ebf-6f30-4011-b595-5571f05c364b	1ff17ff8-6ebe-4775-bc2a-07db1eadb340	g.chr6:39880665C>A	ENST00000340692.5	-	7	844	c.841G>T	c.(841-843)Gtg>Ttg	p.V281L	MOCS1_ENST00000373188.2_Missense_Mutation_p.V281L|MOCS1_ENST00000308559.7_Missense_Mutation_p.V281L|MOCS1_ENST00000373175.4_Missense_Mutation_p.V252L|MOCS1_ENST00000373186.4_Missense_Mutation_p.V281L|MOCS1_ENST00000425303.2_Missense_Mutation_p.V281L|MOCS1_ENST00000432280.2_Missense_Mutation_p.V252L|MOCS1_ENST00000373195.3_Missense_Mutation_p.V194L			Q9NZB8	MOCS1_HUMAN	molybdenum cofactor synthesis 1	281	Molybdenum cofactor biosynthesis protein A.				Mo-molybdopterin cofactor biosynthetic process (GO:0006777)|molybdopterin cofactor biosynthetic process (GO:0032324)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|molybdopterin synthase complex (GO:0019008)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|cyclic pyranopterin monophosphate synthase activity (GO:0061597)|GTP binding (GO:0005525)|metal ion binding (GO:0046872)	p.V281L(2)		central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	21	Ovarian(28;0.0355)|Colorectal(47;0.196)					TCCTCTGGCACCTTCTCCAGC	0.577																																					NSCLC(84;861 1413 23785 24908 42279)|Melanoma(182;611 2047 9114 11847 26639)	ENST00000373186.4																			2	Substitution - Missense(2)	p.V281L(2)	prostate(2)	central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	21						c.(841-843)Gtg>Ttg		molybdenum cofactor synthesis 1							258	241	247					6																	39880665		2203	4300	6503	SO:0001583	missense	4337				Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol|molybdopterin synthase complex|nucleus	4 iron, 4 sulfur cluster binding|catalytic activity|GTP binding|metal ion binding	g.chr6:39880665C>A	AJ224328	CCDS4846.1, CCDS43460.1	6p21.2	2012-05-08			ENSG00000124615	ENSG00000124615			7190	protein-coding gene	gene with protein product		603707				9731530, 10053004	Standard	NM_001075098		Approved	MOCOD	uc003opb.3	Q9NZB8	OTTHUMG00000014656	ENST00000340692.5:c.841G>T	6.37:g.39880665C>A	ENSP00000344794:p.Val281Leu					MOCS1_ENST00000340692.5_Missense_Mutation_p.V281L|MOCS1_ENST00000373188.2_Missense_Mutation_p.V281L|MOCS1_ENST00000425303.2_Missense_Mutation_p.V281L|MOCS1_ENST00000308559.7_Missense_Mutation_p.V281L|MOCS1_ENST00000373175.4_Missense_Mutation_p.V252L|MOCS1_ENST00000373195.3_Missense_Mutation_p.V194L|MOCS1_ENST00000432280.2_Missense_Mutation_p.V252L	p.V281L	NM_005943.5	NP_005934.2	Q9NZB8	MOCS1_HUMAN			6	978	-	Ovarian(28;0.0355)|Colorectal(47;0.196)		281			Molybdenum cofactor biosynthesis protein A.		B3KPT7|B4DTP1|O14940|O14941|O75710|Q5J7W0|Q5TCE1|Q5TCE2|Q5TCE6|Q5TCE9|Q5TCF0|Q5TCF1|Q8N418|Q9NZB7|Q9UEM1	Missense_Mutation	SNP	ENST00000340692.5	37	c.841G>T		.	.	.	.	.	.	.	.	.	.	C	6.225	0.409715	0.11812	.	.	ENSG00000124615	ENST00000373186;ENST00000308559;ENST00000373175;ENST00000373188;ENST00000373195;ENST00000341481;ENST00000340692;ENST00000425303;ENST00000432280	D;D;D;D;D;D;D;D	0.87887	-2.31;-2.31;-2.31;-2.31;-2.31;-2.31;-2.31;-2.31	5.05	3.24	0.37175	Molybdenum cofactor synthesis C-terminal (1);	0.158513	0.42294	N	0.000737	T	0.52273	0.1724	N	0.05608	-0.01	0.25184	N	0.990184	B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0	B;B;B;B;B	0.06405	0.001;0.001;0.002;0.0;0.001	T	0.44174	-0.9345	9	.	.	.	-4.4337	9.8404	0.40996	0.0742:0.2664:0.6594:0.0	.	281;281;281;281;281	Q9NZB8-2;Q9NZB8-5;Q9NZB8;Q9NZB8-8;Q9NZB8-6	.;.;MOCS1_HUMAN;.;.	L	281;281;252;281;194;33;281;281;252	ENSP00000362282:V281L;ENSP00000309843:V281L;ENSP00000362270:V252L;ENSP00000362284:V281L;ENSP00000362291:V194L;ENSP00000344794:V281L;ENSP00000416478:V281L;ENSP00000410809:V252L	.	V	-	1	0	MOCS1	39988643	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	4.333000	0.59285	0.515000	0.28320	-0.128000	0.14901	GTG		0.577	MOCS1-005	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000040476.2	NM_005943		136	185	1	0	3.42316e-88	0.048971	4.29451e-88	136	185					A	39880665	C	A	39880665	3	1	33	1	0	0	0	0	1	0	0	0	9690	507	18	5	332	5	MOCS1	6	39880665	Missense_Mutation	SNP	C	TCGA-CH-5767-01A-11D-1786-08	1332661	39880665	131234402	16	1627											
CCNC	892	broad.mit.edu	37	chr6	100009259	100009259	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atacctctactttggatgccAaaaacacacatgtaggagcc	14	9	7	11	0	1	0	0	0	1	0	1	2	1	2	3	2	5	1	3	2	5	4			TCGA-CH-5767-01A-11D-1786-08	TCGA-CH-5767-11B-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f07b8ebf-6f30-4011-b595-5571f05c364b	1ff17ff8-6ebe-4775-bc2a-07db1eadb340	g.chr6:100009259A>C	ENST00000520429.1	-	4	723	c.278T>G	c.(277-279)tTg>tGg	p.L93W	CCNC_ENST00000518714.1_Missense_Mutation_p.L93W|CCNC_ENST00000521017.1_5'UTR|CCNC_ENST00000369220.4_Missense_Mutation_p.L93W|CCNC_ENST00000523985.1_Missense_Mutation_p.L8W|CCNC_ENST00000482541.2_Missense_Mutation_p.L93W|CCNC_ENST00000520371.1_Missense_Mutation_p.L93W|CCNC_ENST00000523799.1_Missense_Mutation_p.L8W	NM_001013399.1|NM_005190.3	NP_001013417.1|NP_005181.2	P24863	CCNC_HUMAN	cyclin C	93	Cyclin N-terminal.				gene expression (GO:0010467)|Notch signaling pathway (GO:0007219)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|mediator complex (GO:0016592)|nucleoplasm (GO:0005654)		p.L93W(1)					all_cancers(76;8.46e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0128)|Colorectal(196;0.069)|Lung NSC(302;0.186)		BRCA - Breast invasive adenocarcinoma(108;0.064)		TTTGGATGCCAAAAACACACA	0.323																																					GBM(57;273 1020 40094 44454 49348)	ENST00000520429.1																			1	Substitution - Missense(1)	p.L93W(1)	prostate(1)								c.(277-279)tTg>tGg		cyclin C							93	100	98					6																	100009259		2203	4297	6500	SO:0001583	missense	892				regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent	DNA-directed RNA polymerase II, holoenzyme	protein kinase binding	g.chr6:100009259A>C		CCDS34502.1, CCDS47461.1	6q21	2008-02-05			ENSG00000112237	ENSG00000112237			1581	protein-coding gene	gene with protein product		123838				1833066	Standard	XM_005267202		Approved	CycC	uc003pqe.3	P24863	OTTHUMG00000015268	ENST00000520429.1:c.278T>G	6.37:g.100009259A>C	ENSP00000428982:p.Leu93Trp					CCNC_ENST00000518714.1_Missense_Mutation_p.L93W|CCNC_ENST00000523985.1_Missense_Mutation_p.L8W|CCNC_ENST00000520371.1_Missense_Mutation_p.L93W|CCNC_ENST00000521017.1_5'UTR|CCNC_ENST00000482541.2_Missense_Mutation_p.L93W|CCNC_ENST00000523799.1_Missense_Mutation_p.L8W|CCNC_ENST00000369220.4_Missense_Mutation_p.L93W	p.L93W	NM_001013399.1|NM_005190.3	NP_001013417.1|NP_005181.2	P24863	CCNC_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.064)	4	723	-		all_cancers(76;8.46e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0128)|Colorectal(196;0.069)|Lung NSC(302;0.186)	93			Cyclin N-terminal.		B4DPZ1|Q9H543	Missense_Mutation	SNP	ENST00000520429.1	37	c.278T>G	CCDS34502.1	.	.	.	.	.	.	.	.	.	.	A	25.8	4.671677	0.88348	.	.	ENSG00000112237	ENST00000520429;ENST00000369220;ENST00000520371;ENST00000523799;ENST00000486428;ENST00000523985;ENST00000518714;ENST00000524049;ENST00000369217;ENST00000482541	T;T;T;T;T;T;T;T;T;T	0.62788	1.96;1.96;1.96;0.0;1.96;0.0;1.96;0.21;1.96;1.96	5.76	5.76	0.90799	Cyclin, N-terminal (1);Cyclin-like (3);	0.000000	0.85682	D	0.000000	D	0.85427	0.5694	H	0.98133	4.155	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.90931	0.4790	9	.	.	.	-5.9622	16.3695	0.83350	1.0:0.0:0.0:0.0	.	93;126;93	Q7Z4L3;Q05CF7;P24863	.;.;CCNC_HUMAN	W	93;93;93;8;39;8;93;8;140;93	ENSP00000428982:L93W;ENSP00000358222:L93W;ENSP00000430381:L93W;ENSP00000430014:L8W;ENSP00000430077:L39W;ENSP00000430119:L8W;ENSP00000430294:L93W;ENSP00000427885:L8W;ENSP00000428472:L140W;ENSP00000417072:L93W	.	L	-	2	0	CCNC	100115980	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.172000	0.94808	2.315000	0.78130	0.533000	0.62120	TTG		0.323	CCNC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041613.2	NM_005190		4	75	0	0	0	0.021553	0	4	75					C	100009259	A	C	100009259	3	2	33	1	0	0	0	0	1	0	0	0	2915	131	5	5	609	5	CCNC	6	100009259	Missense_Mutation	SNP	A	TCGA-CH-5767-01A-11D-1786-08	60128594	100009259	71105808	17	1628											
EIF4H	7458	broad.mit.edu	37	chr7	73604629	73604629	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgggattcccgggatgacttCaattctggtatcagtattta	9	15	10	7	1	3	1	2	1	1	0	4	3	4	3	1	3	0	2	1	3	4	7			TCGA-CH-5767-01A-11D-1786-08	TCGA-CH-5767-11B-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f07b8ebf-6f30-4011-b595-5571f05c364b	1ff17ff8-6ebe-4775-bc2a-07db1eadb340	g.chr7:73604629C>T	ENST00000265753.8	+	5	601	c.462C>T	c.(460-462)ttC>ttT	p.F154F	EIF4H_ENST00000495187.1_3'UTR|MIR590_ENST00000385008.1_RNA|EIF4H_ENST00000353999.6_Intron	NM_022170.1	NP_071496.1	Q15056	IF4H_HUMAN	eukaryotic translation initiation factor 4H	154	HHV-1 Vhs binding site.				cellular protein metabolic process (GO:0044267)|developmental growth (GO:0048589)|gene expression (GO:0010467)|regulation of translational initiation (GO:0006446)|sexual reproduction (GO:0019953)|translation (GO:0006412)|translational initiation (GO:0006413)|viral process (GO:0016032)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)|membrane (GO:0016020)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)	p.F154F(1)		endometrium(1)|lung(2)|prostate(1)	4						GGGATGACTTCAATTCTGGTA	0.453																																						ENST00000265753.8																			1	Substitution - coding silent(1)	p.F154F(1)	prostate(1)	endometrium(1)|lung(2)|prostate(1)	4						c.(460-462)ttC>ttT		eukaryotic translation initiation factor 4H							129	128	128					7																	73604629		2203	4300	6503	SO:0001819	synonymous_variant	7458				interspecies interaction between organisms|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex|perinuclear region of cytoplasm	nucleotide binding|protein binding|translation initiation factor activity	g.chr7:73604629C>T		CCDS5564.1, CCDS5565.1	7q11.23	2013-02-12	2006-11-27	2006-11-27	ENSG00000106682	ENSG00000106682		"RNA binding motif (RRM) containing"	12741	protein-coding gene	gene with protein product		603431	"Williams-Beuren syndrome chromosome region 1"	WBSCR1		9516461, 15078951	Standard	NM_022170		Approved	WSCR1, KIAA0038	uc003uad.1	Q15056	OTTHUMG00000023025	ENST00000265753.8:c.462C>T	7.37:g.73604629C>T						EIF4H_ENST00000353999.6_Intron|EIF4H_ENST00000495187.1_3'UTR	p.F154F	NM_022170.1	NP_071496.1	Q15056	IF4H_HUMAN			5	601	+			154			HHV-1 Vhs binding site.		A8K3R1|D3DXF6|D3DXF8	Silent	SNP	ENST00000265753.8	37	c.462C>T	CCDS5564.1																																																																																				0.453	EIF4H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252375.2	NM_022170		14	26	0	0	0	0.038395	0	14	26					T	73604629	C	T	73604629	2	4	33	1	0	0	0	0	0	0	0	1	5039	825	29	3		3	EIF4H	7	73604629	Silent	SNP	C	TCGA-CH-5767-01A-11D-1786-08		73604629	85534034	18	1629											
ZC3HC1	51530	broad.mit.edu	37	chr7	129664155	129664155	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctccgggtcatcatcctcCgaggagattcaggcaccaga	9	7	12	13	2	3	2	3	0	0	2	6	4	6	2	4	4	0	2	4	4	0	1			TCGA-CH-5767-01A-11D-1786-08	TCGA-CH-5767-11B-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f07b8ebf-6f30-4011-b595-5571f05c364b	1ff17ff8-6ebe-4775-bc2a-07db1eadb340	g.chr7:129664155C>A	ENST00000358303.4	-	7	1052	c.968G>T	c.(967-969)cGg>cTg	p.R323L	ZC3HC1_ENST00000311873.5_Missense_Mutation_p.R302L|RNA5SP245_ENST00000364239.1_RNA|ZC3HC1_ENST00000481503.1_Missense_Mutation_p.R280L|RP11-306G20.1_ENST00000480018.1_RNA|ZC3HC1_ENST00000360708.5_Missense_Mutation_p.R323L|RP11-306G20.1_ENST00000587038.1_RNA	NM_016478.3	NP_057562.3	Q86WB0	NIPA_HUMAN	zinc finger, C3HC-type containing 1	323					mitotic nuclear division (GO:0007067)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|protein ubiquitination (GO:0016567)	nuclear membrane (GO:0031965)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(6)|large_intestine(10)|lung(2)|prostate(1)|urinary_tract(1)	22	Melanoma(18;0.0435)					CATCATCCTCCGAGGAGATTC	0.547																																					Melanoma(115;540 1606 16325 28853 48167)	ENST00000358303.4																			0				endometrium(2)|kidney(6)|large_intestine(10)|lung(2)|prostate(1)|urinary_tract(1)	22						c.(967-969)cGg>cTg		zinc finger, C3HC-type containing 1							67	67	67					7																	129664155		2203	4300	6503	SO:0001583	missense	51530				cell division|mitosis	nucleus	protein kinase binding|zinc ion binding	g.chr7:129664155C>A	AF151050	CCDS34753.1, CCDS64767.1, CCDS75659.1	7q32.2	2013-01-17			ENSG00000091732	ENSG00000091732		"Zinc fingers, C3HC-type"	29913	protein-coding gene	gene with protein product	"nuclear interaction partner of ALK"					11042152	Standard	XM_005250403		Approved	NIPA	uc003vpi.3	Q86WB0	OTTHUMG00000157648	ENST00000358303.4:c.968G>T	7.37:g.129664155C>A	ENSP00000351052:p.Arg323Leu					RP11-306G20.1_ENST00000480018.1_RNA|ZC3HC1_ENST00000360708.5_Missense_Mutation_p.R323L|RP11-306G20.1_ENST00000587038.1_RNA|ZC3HC1_ENST00000481503.1_Missense_Mutation_p.R280L|ZC3HC1_ENST00000311873.5_Missense_Mutation_p.R302L	p.R323L	NM_016478.3	NP_057562.3	Q86WB0	NIPA_HUMAN			7	1052	-	Melanoma(18;0.0435)		323					A6NH66|Q75MF3|Q75MF4|Q8N330|Q96F75|Q9HA34|Q9NVX4|Q9P0R0	Missense_Mutation	SNP	ENST00000358303.4	37	c.968G>T	CCDS34753.1	.	.	.	.	.	.	.	.	.	.	C	16.92	3.254627	0.59212	.	.	ENSG00000091732	ENST00000358303;ENST00000360708;ENST00000311873;ENST00000481503	T;T;T;T	0.48522	0.98;0.98;0.98;0.81	5.48	5.48	0.80851	Nuclear-interacting partner of ALK/Rsm1-like (1);	0.199328	0.43260	D	0.000596	T	0.62648	0.2445	M	0.67953	2.075	0.37147	D	0.901971	B;D;D	0.64830	0.089;0.994;0.987	B;D;P	0.65233	0.146;0.933;0.779	T	0.67810	-0.5574	10	0.46703	T	0.11	-17.7321	11.4119	0.49931	0.0:0.917:0.0:0.083	.	323;323;280	Q86WB0-3;Q86WB0;C9J0I9	.;NIPA_HUMAN;.	L	323;323;302;280	ENSP00000351052:R323L;ENSP00000353933:R323L;ENSP00000309301:R302L;ENSP00000418533:R280L	ENSP00000309301:R302L	R	-	2	0	ZC3HC1	129451391	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	2.220000	0.42908	2.584000	0.87258	0.563000	0.77884	CGG		0.547	ZC3HC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349316.1	NM_016478		3	93	1	0	0.004672	0.004672	0.00528472	3	93					A	129664155	C	A	129664155	3	1	33	1	0	0	0	0	1	0	0	0	17574	652	23	5	556	5	ZC3HC1	7	129664155	Missense_Mutation	SNP	C	TCGA-CH-5767-01A-11D-1786-08	56059526	129664155	29474508	19	1630											
NKX3-1	4824	broad.mit.edu	37	chr8	23539041	23539041	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaactcgatcacctgagtgTgggagaaggcagctcgggag	10	6	15	10	2	1	2	1	1	0	1	3	5	1	3	2	3	2	2	2	3	2	0			TCGA-CH-5767-01A-11D-1786-08	TCGA-CH-5767-11B-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f07b8ebf-6f30-4011-b595-5571f05c364b	1ff17ff8-6ebe-4775-bc2a-07db1eadb340	g.chr8:23539041T>G	ENST00000380871.4	-	2	435	c.398A>C	c.(397-399)cAc>cCc	p.H133P	NKX3-1_ENST00000523261.1_Missense_Mutation_p.H58P	NM_006167.3	NP_006158.2	Q99801	NKX31_HUMAN	NK3 homeobox 1	133					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|androgen receptor signaling pathway (GO:0030521)|branching involved in prostate gland morphogenesis (GO:0060442)|branching morphogenesis of an epithelial tube (GO:0048754)|cellular response to drug (GO:0035690)|cellular response to hypoxia (GO:0071456)|cellular response to interleukin-1 (GO:0071347)|cellular response to steroid hormone stimulus (GO:0071383)|cellular response to tumor necrosis factor (GO:0071356)|dorsal aorta development (GO:0035907)|epithelial cell proliferation involved in salivary gland morphogenesis (GO:0060664)|heart development (GO:0007507)|male gonad development (GO:0008584)|metanephros development (GO:0001656)|mitotic cell cycle arrest (GO:0071850)|multicellular organismal development (GO:0007275)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|negative regulation of estrogen receptor binding (GO:0071899)|negative regulation of gene expression (GO:0010629)|negative regulation of insulin-like growth factor receptor signaling pathway (GO:0043569)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of transcription, DNA-templated (GO:0045892)|pharyngeal system development (GO:0060037)|positive regulation of androgen secretion (GO:2000836)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell death (GO:0010942)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of gene expression (GO:0010628)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of response to DNA damage stimulus (GO:2001022)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein kinase B signaling (GO:0043491)|regulation of transcription, DNA-templated (GO:0006355)|response to testosterone (GO:0033574)|salivary gland development (GO:0007431)|somitogenesis (GO:0001756)|steroid hormone mediated signaling pathway (GO:0043401)	intracellular (GO:0005622)|nucleus (GO:0005634)	androgen receptor activity (GO:0004882)|core promoter binding (GO:0001047)|estrogen receptor activity (GO:0030284)|estrogen receptor binding (GO:0030331)|histone deacetylase binding (GO:0042826)|protein kinase activator activity (GO:0030295)|protein self-association (GO:0043621)|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity (GO:0000983)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|transcription regulatory region sequence-specific DNA binding (GO:0000976)	p.H133P(1)		large_intestine(3)|lung(4)|prostate(5)|skin(2)	14		Prostate(55;0.114)		Colorectal(74;0.0146)|COAD - Colon adenocarcinoma(73;0.061)|BRCA - Breast invasive adenocarcinoma(99;0.0708)		CACCTGAGTGTGGGAGAAGGC	0.587																																						ENST00000380871.4																			1	Substitution - Missense(1)	p.H133P(1)	prostate(1)	large_intestine(3)|lung(4)|prostate(5)|skin(2)	14						c.(397-399)cAc>cCc		NK3 homeobox 1							107	112	110					8																	23539041		2203	4300	6503	SO:0001583	missense	4824				negative regulation of estrogen receptor binding|negative regulation of transcription, DNA-dependent|positive regulation of cell division|positive regulation of mitotic cell cycle|positive regulation of transcription from RNA polymerase II promoter	nucleus	estrogen receptor activity|estrogen receptor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region sequence-specific DNA binding	g.chr8:23539041T>G		CCDS6042.1, CCDS59095.1	8p21.2	2012-03-09	2007-07-09	2002-10-04	ENSG00000167034	ENSG00000167034		"Homeoboxes / ANTP class : NKL subclass"	7838	protein-coding gene	gene with protein product		602041	"NK homeobox (Drosophila), family 3, A", "NK3 transcription factor related, locus 1 (Drosophila)"	NKX3A		9226374	Standard	NM_006167		Approved	NKX3.1, BAPX2	uc011kzx.2	Q99801	OTTHUMG00000097851	ENST00000380871.4:c.398A>C	8.37:g.23539041T>G	ENSP00000370253:p.His133Pro					NKX3-1_ENST00000523261.1_Missense_Mutation_p.H58P	p.H133P	NM_006167.3	NP_006158.2	Q99801	NKX31_HUMAN		Colorectal(74;0.0146)|COAD - Colon adenocarcinoma(73;0.061)|BRCA - Breast invasive adenocarcinoma(99;0.0708)	2	435	-		Prostate(55;0.114)	133					O15465|Q9H2P4|Q9H2P5|Q9H2P6|Q9H2P7|Q9HBG0	Missense_Mutation	SNP	ENST00000380871.4	37	c.398A>C	CCDS6042.1	.	.	.	.	.	.	.	.	.	.	T	22.6	4.308812	0.81247	.	.	ENSG00000167034	ENST00000380871;ENST00000300332;ENST00000523261	D;D	0.95756	-3.8;-3.8	6.17	6.17	0.99709	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.074474	0.52532	D	0.000072	D	0.93648	0.7971	N	0.03071	-0.42	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95676	0.8728	10	0.72032	D	0.01	.	14.7743	0.69713	0.0:0.0:0.0:1.0	.	133	Q99801	NKX31_HUMAN	P	133;89;58	ENSP00000370253:H133P;ENSP00000429729:H58P	ENSP00000300332:H89P	H	-	2	0	NKX3-1	23594986	1.000000	0.71417	0.999000	0.59377	0.700000	0.40528	8.018000	0.88722	2.371000	0.80710	0.533000	0.62120	CAC		0.587	NKX3-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215141.2			90	33	0	0	0	0.048971	0	90	33					G	23539041	T	G	23539041	3	3	33	1	0	0	0	0	1	0	0	0	10455	1696	59	5	310	5	NKX3-1	8	23539041	Missense_Mutation	SNP	T	TCGA-CH-5767-01A-11D-1786-08		23539041	122824981	20	1631											
MRPL15	29088	broad.mit.edu	37	chr8	55049839	55049839	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttttacagtttcagacgccAgtataagcctttgagtctca	10	14	8	9	1	2	2	2	1	1	1	3	2	2	2	2	0	2	3	2	0	3	6			TCGA-CH-5767-01A-11D-1786-08	TCGA-CH-5767-11B-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f07b8ebf-6f30-4011-b595-5571f05c364b	1ff17ff8-6ebe-4775-bc2a-07db1eadb340	g.chr8:55049839A>C	ENST00000260102.4	+	3	349	c.275A>C	c.(274-276)cAg>cCg	p.Q92P		NM_014175.3	NP_054894.1	Q9P015	RM15_HUMAN	mitochondrial ribosomal protein L15	92					translation (GO:0006412)	large ribosomal subunit (GO:0015934)|mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)	p.Q92P(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|prostate(1)|skin(3)	10		Lung NSC(129;0.109)|all_epithelial(80;0.134)|all_lung(136;0.181)	OV - Ovarian serous cystadenocarcinoma(7;4.3e-07)|Epithelial(17;5.79e-05)|all cancers(17;0.000458)			TTCAGACGCCAGTATAAGCCT	0.398																																						ENST00000260102.4																			1	Substitution - Missense(1)	p.Q92P(1)	prostate(1)	endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|prostate(1)|skin(3)	10						c.(274-276)cAg>cCg		mitochondrial ribosomal protein L15							122	119	120					8																	55049839		2203	4300	6503	SO:0001583	missense	29088				translation	large ribosomal subunit|mitochondrion	structural constituent of ribosome	g.chr8:55049839A>C	AB051619	CCDS6158.1	8q11.2-q13	2012-09-13			ENSG00000137547	ENSG00000137547		"Mitochondrial ribosomal proteins / large subunits"	14054	protein-coding gene	gene with protein product		611828				11543634	Standard	NM_014175		Approved	RPML7, MRP-L7, HSPC145, L15mt, MRP-L15	uc003xsa.2	Q9P015	OTTHUMG00000164315	ENST00000260102.4:c.275A>C	8.37:g.55049839A>C	ENSP00000260102:p.Gln92Pro						p.Q92P	NM_014175.3	NP_054894.1	Q9P015	RM15_HUMAN	OV - Ovarian serous cystadenocarcinoma(7;4.3e-07)|Epithelial(17;5.79e-05)|all cancers(17;0.000458)		3	349	+		Lung NSC(129;0.109)|all_epithelial(80;0.134)|all_lung(136;0.181)	92					Q96Q54|Q9H0Y1	Missense_Mutation	SNP	ENST00000260102.4	37	c.275A>C	CCDS6158.1	.	.	.	.	.	.	.	.	.	.	A	22.0	4.232482	0.79688	.	.	ENSG00000137547	ENST00000260102;ENST00000519831	.	.	.	4.97	4.97	0.65823	Ribosomal protein L18e/L15P (2);	0.000000	0.85682	D	0.000000	T	0.56978	0.2022	L	0.42008	1.315	0.80722	D	1	B	0.21381	0.055	B	0.27715	0.082	T	0.55592	-0.8117	9	0.42905	T	0.14	-26.6787	14.9604	0.71153	1.0:0.0:0.0:0.0	.	92	Q9P015	RM15_HUMAN	P	92	.	ENSP00000260102:Q92P	Q	+	2	0	MRPL15	55212392	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	9.287000	0.95975	1.985000	0.57927	0.533000	0.62120	CAG		0.398	MRPL15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378254.1	NM_014175		55	39	0	0	0	0.048971	0	55	39					C	55049839	A	C	55049839	3	2	33	1	0	0	0	0	1	0	0	0	9780	188	7	5	285	5	MRPL15	8	55049839	Missense_Mutation	SNP	A	TCGA-CH-5767-01A-11D-1786-08	31510798	55049839	91314183	21	1632											
CSMD3	114788	broad.mit.edu	37	chr8	113308235	113308235	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctggaattccacaatgacccGctgaaatacgttataaagta	15	10	7	9	2	0	2	0	2	0	0	1	3	1	3	2	1	1	3	2	1	8	5	rs369949755		TCGA-CH-5767-01A-11D-1786-08	TCGA-CH-5767-11B-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f07b8ebf-6f30-4011-b595-5571f05c364b	1ff17ff8-6ebe-4775-bc2a-07db1eadb340	g.chr8:113308235G>A	ENST00000297405.5	-	54	8685	c.8441C>T	c.(8440-8442)gCg>gTg	p.A2814V	CSMD3_ENST00000343508.3_Splice_Site_p.A2774V|CSMD3_ENST00000352409.3_Splice_Site_p.A2744V|CSMD3_ENST00000455883.2_Splice_Site_p.A2645V	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2814	Sushi 17. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.A2814V(1)|p.A2814E(1)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						ACAATGACCCGCTGAAATACG	0.299										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												ENST00000297405.5																			2	Substitution - Missense(2)	p.A2814V(1)|p.A2814E(1)	large_intestine(1)|prostate(1)	breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						c.e54-1		CUB and Sushi multiple domains 3		G	VAL/ALA,VAL/ALA,VAL/ALA	1,4405	2.1+/-5.4	0,1,2202	57	56	56		7934,8441,8321	5.3	1	8		56	0,8600		0,0,4300	no	missense-near-splice,missense-near-splice,missense-near-splice	CSMD3	NM_052900.2,NM_198123.1,NM_198124.1	64,64,64	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	possibly-damaging,possibly-damaging,possibly-damaging	2645/3539,2814/3708,2774/3668	113308235	1,13005	2203	4300	6503	SO:0001630	splice_region_variant	114788					integral to membrane|plasma membrane		g.chr8:113308235G>A	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.8441-1C>T	8.37:g.113308235G>A		HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_ENST00000352409.3_Splice_Site_p.A2744_splice|CSMD3_ENST00000343508.3_Splice_Site_p.A2774_splice|CSMD3_ENST00000455883.2_Splice_Site_p.A2645_splice	p.A2814_splice	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN			54	8685	-			2814			Sushi 17.		Q96PZ3	Splice_Site	SNP	ENST00000297405.5	37	c.8440_splice	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	G	19.62	3.862300	0.71949	2.27E-4	0.0	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.24908	1.83;1.83;1.83;1.83;1.83	5.31	5.31	0.75309	Complement control module (2);Sushi/SCR/CCP (1);	0.000000	0.64402	D	0.000001	T	0.40347	0.1113	M	0.76433	2.335	0.80722	D	1	D;P;D	0.55385	0.971;0.95;0.969	P;B;P	0.48400	0.503;0.368;0.576	T	0.24728	-1.0152	10	0.31617	T	0.26	.	18.9718	0.92718	0.0:0.0:1.0:0.0	.	2645;2814;2774	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	V	2774;2814;2084;2645;2744	ENSP00000345799:A2774V;ENSP00000297405:A2814V;ENSP00000341558:A2084V;ENSP00000412263:A2645V;ENSP00000343124:A2744V	ENSP00000297405:A2814V	A	-	2	0	CSMD3	113377411	1.000000	0.71417	1.000000	0.80357	0.304000	0.27724	6.622000	0.74233	2.480000	0.83734	0.655000	0.94253	GCG		0.299	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900	Missense_Mutation	27	28	0	0	0	0.099896	0	27	28					A	113308235	G	A	113308235	5	1	33	1	0	0	0	0	0	0	1	0	3946	1101	38	1	2754	1	CSMD3	8	113308235	Splice_Site	SNP	G	TCGA-CH-5767-01A-11D-1786-08	58258396	113308235	33055787	22	1633											
TJP2	9414	broad.mit.edu	37	chr9	71844114	71844114	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctacagctcctcaaccaaaaGcagccccgagaacttttctt	12	9	5	15	1	2	1	1	0	1	1	3	2	3	1	4	0	6	2	4	0	5	4			TCGA-CH-5767-01A-11D-1786-08	TCGA-CH-5767-11B-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f07b8ebf-6f30-4011-b595-5571f05c364b	1ff17ff8-6ebe-4775-bc2a-07db1eadb340	g.chr9:71844114G>C	ENST00000377245.4	+	10	1676	c.1468G>C	c.(1468-1470)Gca>Cca	p.A490P	TJP2_ENST00000453658.2_Missense_Mutation_p.A467P|TJP2_ENST00000348208.4_Missense_Mutation_p.A490P|TJP2_ENST00000535702.1_Missense_Mutation_p.A494P|TJP2_ENST00000539225.1_Missense_Mutation_p.A521P|TJP2_ENST00000265384.7_Missense_Mutation_p.A490P	NM_004817.3	NP_004808.2	Q9UDY2	ZO2_HUMAN	tight junction protein 2	490					apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|hippo signaling (GO:0035329)|nucleotide phosphorylation (GO:0046939)|response to organic substance (GO:0010033)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	guanylate kinase activity (GO:0004385)	p.A490P(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(5)|lung(9)|prostate(3)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	35						TCAACCAAAAGCAGCCCCGAG	0.388																																						ENST00000377245.4																			1	Substitution - Missense(1)	p.A490P(1)	prostate(1)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(5)|lung(9)|prostate(3)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	35						c.(1468-1470)Gca>Cca		tight junction protein 2							204	190	195					9																	71844114		2203	4300	6503	SO:0001583	missense	9414				cellular component disassembly involved in apoptosis	adherens junction|cytoplasm|nucleus|tight junction	guanylate kinase activity|protein binding	g.chr9:71844114G>C	L27476	CCDS6627.1, CCDS6628.1, CCDS55314.1, CCDS55315.1, CCDS55316.1, CCDS55317.1	9q13-q21	2012-07-12	2012-07-12		ENSG00000119139	ENSG00000119139			11828	protein-coding gene	gene with protein product	"Friedreich ataxia region gene X104 (tight junction protein ZO-2)", "zona occludens 2"	607709	"deafness, autosomal dominant 51"	DFNA51		7951235, 20602916	Standard	NM_001170630		Approved	ZO-2, X104, ZO2	uc011lrv.2	Q9UDY2	OTTHUMG00000019978	ENST00000377245.4:c.1468G>C	9.37:g.71844114G>C	ENSP00000366453:p.Ala490Pro					TJP2_ENST00000348208.4_Missense_Mutation_p.A490P|TJP2_ENST00000453658.2_Missense_Mutation_p.A467P|TJP2_ENST00000265384.7_Missense_Mutation_p.A490P|TJP2_ENST00000535702.1_Missense_Mutation_p.A494P|TJP2_ENST00000539225.1_Missense_Mutation_p.A521P	p.A490P	NM_004817.3	NP_004808.2	Q9UDY2	ZO2_HUMAN			10	1676	+			490					A2A3H9|B7Z2R8|B7Z7T6|F5H301|F5H886|Q15883|Q5VXL0|Q5VXL1|Q8N756|Q8NI14|Q99839|Q9UDY0|Q9UDY1	Missense_Mutation	SNP	ENST00000377245.4	37	c.1468G>C	CCDS6627.1	.	.	.	.	.	.	.	.	.	.	G	13.54	2.267649	0.40095	.	.	ENSG00000119139	ENST00000453658;ENST00000377245;ENST00000348208;ENST00000265384;ENST00000535702;ENST00000539225	T;T;T;T;T;T	0.09630	2.98;2.96;2.97;2.97;2.97;3.02	5.61	-4.15	0.03881	.	0.426506	0.25027	N	0.033712	T	0.04092	0.0114	N	0.05441	-0.05	0.43531	D	0.995811	B;B;B;B;B	0.13594	0.001;0.001;0.003;0.0;0.008	B;B;B;B;B	0.13407	0.003;0.005;0.005;0.003;0.009	T	0.46775	-0.9167	10	0.05721	T	0.95	.	14.6992	0.69145	0.0976:0.6131:0.2892:0.0	.	521;494;490;490;490	F5H301;F5H886;Q9UDY2-2;Q9UDY2;Q9UDY2-5	.;.;.;ZO2_HUMAN;.	P	467;490;490;490;494;521	ENSP00000392178:A467P;ENSP00000366453:A490P;ENSP00000345893:A490P;ENSP00000265384:A490P;ENSP00000442090:A494P;ENSP00000438262:A521P	ENSP00000265384:A490P	A	+	1	0	TJP2	71033934	0.005000	0.15991	0.217000	0.23759	0.982000	0.71751	-0.533000	0.06157	-1.317000	0.02292	0.557000	0.71058	GCA		0.388	TJP2-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000052572.2	NM_201629		7	141	0	0	0	0.02938	0	7	141					C	71844114	G	C	71844114	3	2	33	1	0	0	0	0	1	0	0	0	15927	971	34	5	1663	5	TJP2	9	71844114	Missense_Mutation	SNP	G	TCGA-CH-5767-01A-11D-1786-08		71844114	69369317	23	1634											
SCAI	286205	broad.mit.edu	37	chr9	127765792	127765792	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	ggaagctaaattcattggctCcctttccagagcttgtaaca	11	12	8	10	0	1	1	1	0	0	1	3	2	3	2	2	2	3	4	2	2	4	6			TCGA-CH-5767-01A-11D-1786-08	TCGA-CH-5767-11B-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f07b8ebf-6f30-4011-b595-5571f05c364b	1ff17ff8-6ebe-4775-bc2a-07db1eadb340	g.chr9:127765792C>G	ENST00000336505.6	-	10	977	c.919G>C	c.(919-921)Gag>Cag	p.E307Q	SCAI_ENST00000487795.1_5'UTR|SCAI_ENST00000373549.4_Missense_Mutation_p.E330Q	NM_001144877.2	NP_001138349.1	Q8N9R8	SCAI_HUMAN	suppressor of cancer cell invasion	307					negative regulation of cell migration (GO:0030336)|negative regulation of Rho protein signal transduction (GO:0035024)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	transcription corepressor activity (GO:0003714)	p.E330Q(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(7)|large_intestine(4)|lung(8)|ovary(2)|pancreas(1)|prostate(5)|stomach(1)|urinary_tract(1)	35						TTCATTGGCTCCCTTTCCAGA	0.413																																						ENST00000336505.5																			1	Substitution - Missense(1)	p.E330Q(1)	prostate(1)	breast(2)|central_nervous_system(1)|endometrium(3)|kidney(7)|large_intestine(4)|lung(8)|ovary(2)|pancreas(1)|prostate(5)|stomach(1)|urinary_tract(1)	35						c.(919-921)Gag>Cag		suppressor of cancer cell invasion							116	109	112					9																	127765792		1889	4121	6010	SO:0001583	missense	286205				negative regulation of cell migration|negative regulation of Rho protein signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|integral to membrane|nucleus	protein binding|transcription corepressor activity	g.chr9:127765792C>G	AK093983	CCDS43877.1, CCDS48017.1	9q34.11	2009-11-06	2009-07-09	2009-07-09	ENSG00000173611	ENSG00000173611			26709	protein-coding gene	gene with protein product			"chromosome 9 open reading frame 126"	C9orf126			Standard	NM_173690		Approved	FLJ36664, NET40	uc004bpd.3	Q8N9R8	OTTHUMG00000020667	ENST00000336505.6:c.919G>C	9.37:g.127765792C>G	ENSP00000336756:p.Glu307Gln					SCAI_ENST00000487795.1_5'UTR|SCAI_ENST00000373549.4_Missense_Mutation_p.E330Q	p.E307Q	NM_001144877.2	NP_001138349.1	Q8N9R8	SCAI_HUMAN			10	977	-			307					Q3SXZ1|Q3SXZ2|Q5T163|Q8N1I4	Missense_Mutation	SNP	ENST00000336505.6	37	c.919G>C	CCDS48017.1	.	.	.	.	.	.	.	.	.	.	C	27.4	4.825053	0.90955	.	.	ENSG00000173611	ENST00000336505;ENST00000373549	T;T	0.54479	0.57;0.57	5.05	5.05	0.67936	.	0.097200	0.64402	D	0.000002	T	0.73426	0.3585	M	0.78285	2.405	0.53005	D	0.999966	D;D	0.62365	0.991;0.989	D;D	0.74023	0.982;0.979	T	0.76961	-0.2765	10	0.62326	D	0.03	-13.9199	17.4034	0.87467	0.0:1.0:0.0:0.0	.	307;330	Q8N9R8;Q8N9R8-2	SCAI_HUMAN;.	Q	307;330	ENSP00000336756:E307Q;ENSP00000362650:E330Q	ENSP00000336756:E307Q	E	-	1	0	SCAI	126805613	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.445000	0.80570	2.340000	0.79590	0.455000	0.32223	GAG		0.413	SCAI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054055.3	NM_173690		20	56	0	0	0	0.062417	0	20	56					G	127765792	C	G	127765792	3	3	33	1	0	0	0	0	1	0	0	0	13869	864	30	5	937	5	SCAI	9	127765792	Missense_Mutation	SNP	C	TCGA-CH-5767-01A-11D-1786-08	55921678	127765792	13447639	24	1635											
ITIH2	3698	broad.mit.edu	37	chr10	7780658	7780658	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atccttcaccaacgcccgtgAtctccatgctggcacaagga	10	8	8	15	2	2	1	1	1	1	0	4	2	3	2	4	2	2	2	4	2	2	1			TCGA-CH-5767-01A-11D-1786-08	TCGA-CH-5767-11B-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f07b8ebf-6f30-4011-b595-5571f05c364b	1ff17ff8-6ebe-4775-bc2a-07db1eadb340	g.chr10:7780658A>G	ENST00000358415.4	+	16	2198	c.2032A>G	c.(2032-2034)Atc>Gtc	p.I678V	ITIH2_ENST00000379587.4_Missense_Mutation_p.I667V	NM_002216.2	NP_002207.2	P19823	ITIH2_HUMAN	inter-alpha-trypsin inhibitor heavy chain 2	678	O-glycosylated at three sites.				hyaluronan metabolic process (GO:0030212)|negative regulation of endopeptidase activity (GO:0010951)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)	p.I678V(1)		NS(2)|breast(1)|endometrium(8)|kidney(1)|large_intestine(17)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						AACGCCCGTGATCTCCATGCT	0.552																																						ENST00000358415.4																			1	Substitution - Missense(1)	p.I678V(1)	prostate(1)	NS(2)|breast(1)|endometrium(8)|kidney(1)|large_intestine(17)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						c.(2032-2034)Atc>Gtc		inter-alpha-trypsin inhibitor heavy chain 2							127	109	115					10																	7780658		2203	4300	6503	SO:0001583	missense	3698				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	g.chr10:7780658A>G	X07173	CCDS31141.1	10p14	2011-10-26	2011-10-26		ENSG00000151655	ENSG00000151655			6167	protein-coding gene	gene with protein product		146640	"inter-alpha (globulin) inhibitor, H2 polypeptide"			1385302, 10100603	Standard	NM_002216		Approved	H2P	uc001ijs.3	P19823	OTTHUMG00000017633	ENST00000358415.4:c.2032A>G	10.37:g.7780658A>G	ENSP00000351190:p.Ile678Val					ITIH2_ENST00000379587.4_Missense_Mutation_p.I667V	p.I678V	NM_002216.2	NP_002207.2	P19823	ITIH2_HUMAN			16	2198	+			678					Q14659|Q15484|Q5T986	Missense_Mutation	SNP	ENST00000358415.4	37	c.2032A>G	CCDS31141.1	.	.	.	.	.	.	.	.	.	.	A	2.394	-0.339205	0.05243	.	.	ENSG00000151655	ENST00000358415;ENST00000379587	T;T	0.01388	4.95;4.95	5.23	-10.5	0.00291	.	5.882280	0.00541	N	0.000224	T	0.00845	0.0028	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.41770	-0.9490	10	0.15499	T	0.54	-0.1401	9.7923	0.40713	0.2158:0.0903:0.6044:0.0895	.	678	P19823	ITIH2_HUMAN	V	678;667	ENSP00000351190:I678V;ENSP00000368906:I667V	ENSP00000351190:I678V	I	+	1	0	ITIH2	7820664	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.476000	0.06591	-2.546000	0.00482	-0.386000	0.06593	ATC		0.552	ITIH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046678.2	NM_002216		9	75	0	0	0	0.047766	0	9	75					G	7780658	A	G	7780658	3	3	33	1	0	0	0	0	1	0	0	0	7904	333	12	4	2094	4	ITIH2	10	7780658	Missense_Mutation	SNP	A	TCGA-CH-5767-01A-11D-1786-08		7780658	127754089	25	1636											
ARHGAP21	57584	broad.mit.edu	37	chr10	24884077	24884077	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atgttttcagacgatctagaGgatcttctttacgattggct	9	16	9	7	2	4	2	1	0	3	2	4	5	4	3	0	2	1	2	0	2	2	7			TCGA-CH-5767-01A-11D-1786-08	TCGA-CH-5767-11B-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f07b8ebf-6f30-4011-b595-5571f05c364b	1ff17ff8-6ebe-4775-bc2a-07db1eadb340	g.chr10:24884077G>C	ENST00000396432.2	-	20	4241	c.3755C>G	c.(3754-3756)cCt>cGt	p.P1252R	ARHGAP21_ENST00000320481.6_Missense_Mutation_p.P1039R|ARHGAP21_ENST00000493154.1_5'Flank	NM_020824.3	NP_065875.3	Q5T5U3	RHG21_HUMAN	Rho GTPase activating protein 21	1251	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				establishment of Golgi localization (GO:0051683)|Golgi organization (GO:0007030)|maintenance of Golgi location (GO:0051684)|organelle transport along microtubule (GO:0072384)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)	p.P1251R(1)|p.P1251fs*2(1)|p.P1252R(1)		NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1)	78						ACGATCTAGAGGATCTTCTTT	0.299																																						ENST00000396432.2																			3	Substitution - Missense(2)|Deletion - Frameshift(1)	p.P1251R(1)|p.P1251fs*2(1)|p.P1252R(1)	prostate(2)|pancreas(1)	NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1)	78						c.(3754-3756)cCt>cGt		Rho GTPase activating protein 21							43	45	44					10																	24884077		2201	4296	6497	SO:0001583	missense	57584				signal transduction	cell junction|cytoplasmic vesicle membrane|cytoskeleton|Golgi membrane	GTPase activator activity|protein binding	g.chr10:24884077G>C	AF480466	CCDS7144.2	10p12.31	2013-01-10			ENSG00000107863	ENSG00000107863		"Rho GTPase activating proteins", "Pleckstrin homology (PH) domain containing"	23725	protein-coding gene	gene with protein product		609870				12056806	Standard	NM_020824		Approved	KIAA1424, ARHGAP10	uc001isb.2	Q5T5U3	OTTHUMG00000017825	ENST00000396432.2:c.3755C>G	10.37:g.24884077G>C	ENSP00000379709:p.Pro1252Arg					ARHGAP21_ENST00000320481.6_Missense_Mutation_p.P1039R	p.P1252R	NM_020824.3	NP_065875.3	Q5T5U3	RHG21_HUMAN			20	4241	-			1251			Rho-GAP.		Q0VF98|Q7Z3P7|Q8N3A2|Q8NI19|Q8TBV5|Q9P2C3	Missense_Mutation	SNP	ENST00000396432.2	37	c.3755C>G	CCDS7144.2	.	.	.	.	.	.	.	.	.	.	G	18.26	3.584864	0.65992	.	.	ENSG00000107863	ENST00000396432;ENST00000447364;ENST00000320481;ENST00000418325	T;T;T	0.18338	2.22;2.22;2.22	5.52	5.52	0.82312	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	0.049408	0.85682	D	0.000000	T	0.28928	0.0718	N	0.20845	0.615	0.80722	D	1	P	0.52463	0.953	D	0.64144	0.922	T	0.04017	-1.0984	10	0.62326	D	0.03	.	19.7999	0.96502	0.0:0.0:1.0:0.0	.	1251	Q5T5U3	RHG21_HUMAN	R	1252;701;1039;93	ENSP00000379709:P1252R;ENSP00000365604:P1039R;ENSP00000402761:P93R	ENSP00000365604:P1039R	P	-	2	0	ARHGAP21	24924083	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.421000	0.73353	2.751000	0.94390	0.650000	0.86243	CCT		0.299	ARHGAP21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047229.4	NM_020824		4	25	0	0	0	0.014758	0	4	25					C	24884077	G	C	24884077	3	2	33	1	0	0	0	0	1	0	0	0	871	1000	35	5	2149	5	ARHGAP21	10	24884077	Missense_Mutation	SNP	G	TCGA-CH-5767-01A-11D-1786-08	17103419	24884077	110650670	26	1637											
OPALIN	93377	broad.mit.edu	37	chr10	98113209	98113209	+	Intron	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggcaggatgacctaccatccGcattgtccagagagctgccc	9	7	11	14	1	0	2	0	1	0	1	2	4	2	3	5	2	3	3	5	2	1	2			TCGA-CH-5767-01A-11D-1786-08	TCGA-CH-5767-11B-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f07b8ebf-6f30-4011-b595-5571f05c364b	1ff17ff8-6ebe-4775-bc2a-07db1eadb340	g.chr10:98113209G>A	ENST00000371172.3	-	2	445				OPALIN_ENST00000393870.2_Intron|OPALIN_ENST00000393871.1_Intron|OPALIN_ENST00000536387.1_Missense_Mutation_p.R2W|OPALIN_ENST00000419479.1_Missense_Mutation_p.R2W	NM_001284326.1|NM_001284327.1|NM_033207.3	NP_001271255.1|NP_001271256.1|NP_149984.1	Q96PE5	OPALI_HUMAN	oligodendrocytic myelin paranodal and inner loop protein							Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.R2W(1)		breast(1)|large_intestine(1)|lung(5)|prostate(2)	9						cctaccatccgcattgtccag	0.522																																						ENST00000419479.1																			1	Substitution - Missense(1)	p.R2W(1)	kidney(1)	breast(1)|large_intestine(1)|lung(5)|prostate(2)	9						c.(4-6)Cgg>Tgg		oligodendrocytic myelin paranodal and inner loop protein							149	145	147					10																	98113209		1979	4154	6133	SO:0001627	intron_variant	93377					Golgi apparatus|integral to membrane|plasma membrane		g.chr10:98113209G>A	AF367761	CCDS7448.1, CCDS41556.1, CCDS44466.1, CCDS60602.1, CCDS73172.1, CCDS73173.1	10q23-q24	2010-11-23	2008-05-01	2008-05-01	ENSG00000197430	ENSG00000197430			20707	protein-coding gene	gene with protein product			"transmembrane protein 10"	TMEM10		11814680, 17442045	Standard	NM_001284324		Approved	TMP10, HTMP10	uc001kmj.3	Q96PE5	OTTHUMG00000018831	ENST00000371172.3:c.39+1802C>T	10.37:g.98113209G>A						OPALIN_ENST00000371172.3_Intron|OPALIN_ENST00000536387.1_Missense_Mutation_p.R2W|OPALIN_ENST00000393871.1_Intron|OPALIN_ENST00000393870.2_Intron	p.R2W	NM_001040103.1	NP_001035192.1	Q96PE5	OPALI_HUMAN			3	511	-			0					A8MX69|A8MYG4|B4DK96|B4DKH0|Q5W102	Missense_Mutation	SNP	ENST00000371172.3	37	c.4C>T	CCDS7448.1	.	.	.	.	.	.	.	.	.	.	g	7.620	0.676695	0.14841	.	.	ENSG00000197430	ENST00000419479;ENST00000536387	.	.	.	2.01	-2.96	0.05547	.	.	.	.	.	T	0.09379	0.0231	.	.	.	0.09310	N	1	P	0.48589	0.912	B	0.24848	0.056	T	0.22312	-1.0220	7	0.87932	D	0	.	0.1224	0.00066	0.2229:0.2042:0.2301:0.3428	.	2	B4DK96	.	W	2	.	ENSP00000398025:R2W	R	-	1	2	OPALIN	98103199	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	-1.720000	0.01871	-0.727000	0.04888	-1.488000	0.00978	CGG		0.522	OPALIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049606.1	NM_033207		4	143	0	0	0	0.014758	0	4	143					A	98113209	G	A	98113209	1	1	33	0	1	0	0	0	0	0	0	0	10873	1086	38	1		1	OPALIN	10	98113209	Intron	SNP	G	TCGA-CH-5767-01A-11D-1786-08	73229132	98113209	37421538	27	1638											
TPH1	7166	broad.mit.edu	37	chr11	18062244	18062244	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccaacttcattctttaaggaAaaaatgagacttgctcttcc	13	13	5	10	0	3	1	1	1	2	1	4	3	4	2	2	1	2	1	2	1	5	6			TCGA-CH-5767-01A-11D-1786-08	TCGA-CH-5767-11B-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f07b8ebf-6f30-4011-b595-5571f05c364b	1ff17ff8-6ebe-4775-bc2a-07db1eadb340	g.chr11:18062244A>C	ENST00000250018.2	-	1	628	c.66T>G	c.(64-66)ttT>ttG	p.F22L	TPH1_ENST00000341556.2_Missense_Mutation_p.F22L	NM_004179.2	NP_004170.1	P17752	TPH1_HUMAN	tryptophan hydroxylase 1	22	ACT. {ECO:0000255|PROSITE- ProRule:PRU01007}.				aromatic amino acid family metabolic process (GO:0009072)|bone remodeling (GO:0046849)|cellular nitrogen compound metabolic process (GO:0034641)|circadian rhythm (GO:0007623)|indolalkylamine biosynthetic process (GO:0046219)|mammary gland alveolus development (GO:0060749)|negative regulation of ossification (GO:0030279)|response to immobilization stress (GO:0035902)|serotonin biosynthetic process (GO:0042427)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|neuron projection (GO:0043005)	amino acid binding (GO:0016597)|iron ion binding (GO:0005506)|tryptophan 5-monooxygenase activity (GO:0004510)	p.F22L(1)		NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(14)|prostate(1)|stomach(1)	25					L-Tryptophan(DB00150)|Tetrahydrobiopterin(DB00360)	TCTTTAAGGAAAAAATGAGAC	0.328																																						ENST00000250018.2																			1	Substitution - Missense(1)	p.F22L(1)	prostate(1)	NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(14)|prostate(1)|stomach(1)	25						c.(64-66)ttT>ttG		tryptophan hydroxylase 1	L-Tryptophan(DB00150)|Tetrahydrobiopterin(DB00360)						55	51	52					11																	18062244		2199	4290	6489	SO:0001583	missense	7166				aromatic amino acid family metabolic process|hormone biosynthetic process|serotonin biosynthetic process	cytosol	amino acid binding|iron ion binding|tryptophan 5-monooxygenase activity	g.chr11:18062244A>C	X52836	CCDS7829.1	11p15.3-p14	2012-10-02	2008-07-31	2003-04-04	ENSG00000129167	ENSG00000129167	1.14.16.4		12008	protein-coding gene	gene with protein product	"tryptophan 5-monooxygenase"	191060	"tryptophan hydroxylase (tryptophan 5-monooxygenase)"	TPRH, TPH		1463016	Standard	NM_004179		Approved		uc001mnp.2	P17752	OTTHUMG00000166421	ENST00000250018.2:c.66T>G	11.37:g.18062244A>C	ENSP00000250018:p.Phe22Leu					TPH1_ENST00000341556.2_Missense_Mutation_p.F22L	p.F22L	NM_004179.2	NP_004170.1	P17752	TPH1_HUMAN			1	628	-			22			ACT.		D3DQX6|O95188|O95189|Q16736|Q3KPG8	Missense_Mutation	SNP	ENST00000250018.2	37	c.66T>G	CCDS7829.1	.	.	.	.	.	.	.	.	.	.	A	17.10	3.303318	0.60195	.	.	ENSG00000129167	ENST00000250018;ENST00000341556;ENST00000528338	D;D;D	0.99098	-5.42;-5.42;-5.42	5.28	1.47	0.22746	Amino acid-binding ACT (1);	0.000000	0.85682	D	0.000000	D	0.97636	0.9225	M	0.68593	2.085	0.58432	D	0.999997	P	0.41102	0.738	B	0.42798	0.398	D	0.94967	0.8113	10	0.36615	T	0.2	-19.3977	9.4738	0.38858	0.6406:0.0:0.3594:0.0	.	22	P17752	TPH1_HUMAN	L	22;22;32	ENSP00000250018:F22L;ENSP00000343550:F22L;ENSP00000436081:F32L	ENSP00000250018:F22L	F	-	3	2	TPH1	18018820	1.000000	0.71417	0.999000	0.59377	0.753000	0.42808	1.767000	0.38501	0.301000	0.22738	-0.415000	0.06103	TTT		0.328	TPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389696.1	NM_004179		5	38	0	0	0	0.021553	0	5	38					C	18062244	A	C	18062244	3	2	33	1	0	0	0	0	1	0	0	0	16398	11	1	5	1308	5	TPH1	11	18062244	Missense_Mutation	SNP	A	TCGA-CH-5767-01A-11D-1786-08		18062244	116944272	28	1639											
SLC6A5	9152	broad.mit.edu	37	chr11	20622883	20622883	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcggacgcgcgagcctgcgAggctgagcggccaggagtgg	7	3	20	11	6	0	1	0	1	0	0	0	5	0	3	2	5	4	1	2	5	0	0			TCGA-CH-5767-01A-11D-1786-08	TCGA-CH-5767-11B-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f07b8ebf-6f30-4011-b595-5571f05c364b	1ff17ff8-6ebe-4775-bc2a-07db1eadb340	g.chr11:20622883A>G	ENST00000525748.1	+	2	485	c.212A>G	c.(211-213)gAg>gGg	p.E71G		NM_004211.3	NP_004202.2	Q9Y345	SC6A5_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 5	71					glycine import (GO:0036233)|synaptic transmission (GO:0007268)|synaptic transmission, glycinergic (GO:0060012)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	glycine:sodium symporter activity (GO:0015375)|neurotransmitter:sodium symporter activity (GO:0005328)	p.E71G(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(34)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	63					Glycine(DB00145)	CGAGCCTGCGAGGCTGAGCGG	0.721																																						ENST00000525748.1																			1	Substitution - Missense(1)	p.E71G(1)	prostate(1)	breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(34)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	63						c.(211-213)gAg>gGg		solute carrier family 6 (neurotransmitter transporter), member 5	Glycine(DB00145)						5	7	6					11																	20622883		2103	4119	6222	SO:0001583	missense	9152				synaptic transmission	integral to membrane|plasma membrane	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity	g.chr11:20622883A>G	AF085412	CCDS7854.1	11p15.1	2013-07-19	2013-07-19		ENSG00000165970	ENSG00000165970		"Solute carriers"	11051	protein-coding gene	gene with protein product	"glycine transporter 2"	604159	"solute carrier family 6 (neurotransmitter transporter, glycine), member 5"	NET1		9845349	Standard	NM_004211		Approved	GLYT2	uc001mqd.3	Q9Y345	OTTHUMG00000166024	ENST00000525748.1:c.212A>G	11.37:g.20622883A>G	ENSP00000434364:p.Glu71Gly						p.E71G	NM_004211.3	NP_004202.2	Q9Y345	SC6A5_HUMAN			2	485	+			71					O95288|Q4VAM7|Q9BX77	Missense_Mutation	SNP	ENST00000525748.1	37	c.212A>G	CCDS7854.1	.	.	.	.	.	.	.	.	.	.	A	16.23	3.065039	0.55432	.	.	ENSG00000165970	ENST00000525748	T	0.74209	-0.82	5.7	5.7	0.88788	.	1.070250	0.07034	N	0.828922	T	0.66674	0.2813	N	0.19112	0.55	0.22591	N	0.998953	B	0.02656	0.0	B	0.01281	0.0	T	0.56992	-0.7887	10	0.72032	D	0.01	.	14.7928	0.69854	1.0:0.0:0.0:0.0	.	71	Q9Y345	SC6A5_HUMAN	G	71	ENSP00000434364:E71G	ENSP00000298923:E71G	E	+	2	0	SLC6A5	20579459	1.000000	0.71417	0.997000	0.53966	0.923000	0.55619	4.085000	0.57657	2.176000	0.68965	0.379000	0.24179	GAG		0.721	SLC6A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387497.2	NM_004211		6	6	0	0	0	0.02938	0	6	6					G	20622883	A	G	20622883	3	3	33	1	0	0	0	0	1	0	0	0	14687	304	11	4	218	4	SLC6A5	11	20622883	Missense_Mutation	SNP	A	TCGA-CH-5767-01A-11D-1786-08	2560639	20622883	114383633	29	1640											
SLC6A5	9152	broad.mit.edu	37	chr11	20628637	20628637	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ggtgtcgctgggccagtttgCcagccagggaccagtgtctg	5	9	16	11	1	1	0	0	0	1	0	2	1	1	1	4	3	2	2	4	3	0	1			TCGA-CH-5767-01A-11D-1786-08	TCGA-CH-5767-11B-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f07b8ebf-6f30-4011-b595-5571f05c364b	1ff17ff8-6ebe-4775-bc2a-07db1eadb340	g.chr11:20628637C>T	ENST00000525748.1	+	4	1037	c.764C>T	c.(763-765)gCc>gTc	p.A255V		NM_004211.3	NP_004202.2	Q9Y345	SC6A5_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 5	255					glycine import (GO:0036233)|synaptic transmission (GO:0007268)|synaptic transmission, glycinergic (GO:0060012)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	glycine:sodium symporter activity (GO:0015375)|neurotransmitter:sodium symporter activity (GO:0005328)	p.A255V(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(34)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	63					Glycine(DB00145)	GGCCAGTTTGCCAGCCAGGGA	0.572																																						ENST00000525748.1																			1	Substitution - Missense(1)	p.A255V(1)	prostate(1)	breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(34)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	63						c.(763-765)gCc>gTc		solute carrier family 6 (neurotransmitter transporter), member 5	Glycine(DB00145)						93	83	86					11																	20628637		2203	4300	6503	SO:0001583	missense	9152				synaptic transmission	integral to membrane|plasma membrane	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity	g.chr11:20628637C>T	AF085412	CCDS7854.1	11p15.1	2013-07-19	2013-07-19		ENSG00000165970	ENSG00000165970		"Solute carriers"	11051	protein-coding gene	gene with protein product	"glycine transporter 2"	604159	"solute carrier family 6 (neurotransmitter transporter, glycine), member 5"	NET1		9845349	Standard	NM_004211		Approved	GLYT2	uc001mqd.3	Q9Y345	OTTHUMG00000166024	ENST00000525748.1:c.764C>T	11.37:g.20628637C>T	ENSP00000434364:p.Ala255Val						p.A255V	NM_004211.3	NP_004202.2	Q9Y345	SC6A5_HUMAN			4	1037	+			255					O95288|Q4VAM7|Q9BX77	Missense_Mutation	SNP	ENST00000525748.1	37	c.764C>T	CCDS7854.1	.	.	.	.	.	.	.	.	.	.	C	35	5.499525	0.96355	.	.	ENSG00000165970	ENST00000525748	T	0.74737	-0.87	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	T	0.81725	0.4883	L	0.45051	1.395	0.80722	D	1	D	0.54601	0.967	P	0.62014	0.897	T	0.82319	-0.0516	10	0.66056	D	0.02	.	19.456	0.94889	0.0:1.0:0.0:0.0	.	255	Q9Y345	SC6A5_HUMAN	V	255	ENSP00000434364:A255V	ENSP00000434364:A255V	A	+	2	0	SLC6A5	20585213	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.776000	0.85560	2.767000	0.95098	0.655000	0.94253	GCC		0.572	SLC6A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387497.2	NM_004211		3	42	0	0	0	0.004672	0	3	42					T	20628637	C	T	20628637	3	4	33	1	0	0	0	0	1	0	0	0	14687	739	26	3	778	3	SLC6A5	11	20628637	Missense_Mutation	SNP	C	TCGA-CH-5767-01A-11D-1786-08	5754	20628637	114377879	30	1641											
CD82	3732	broad.mit.edu	37	chr11	44626916	44626916	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tgtccccagtactttgctttCctgctcctgatcctcattgc	4	16	6	15	0	1	1	1	1	0	0	5	1	5	1	5	0	4	3	5	0	1	4			TCGA-CH-5767-01A-11D-1786-08	TCGA-CH-5767-11B-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f07b8ebf-6f30-4011-b595-5571f05c364b	1ff17ff8-6ebe-4775-bc2a-07db1eadb340	g.chr11:44626916C>T	ENST00000227155.4	+	6	521	c.273C>T	c.(271-273)ttC>ttT	p.F91F	CD82_ENST00000342935.3_Intron|CD82_ENST00000530931.1_3'UTR|RP11-58K22.5_ENST00000533814.1_RNA|RP11-58K22.4_ENST00000532524.1_RNA	NM_002231.3	NP_002222.1	P27701	CD82_HUMAN	CD82 molecule	91						extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)		p.F91F(1)		large_intestine(1)|ovary(1)	2						ACTTTGCTTTCCTGCTCCTGA	0.617																																						ENST00000227155.4																			1	Substitution - coding silent(1)	p.F91F(1)	prostate(1)	large_intestine(1)|ovary(1)	2						c.(271-273)ttC>ttT		CD82 molecule							116	100	106					11																	44626916		2203	4299	6502	SO:0001819	synonymous_variant	3732					integral to plasma membrane	protein binding	g.chr11:44626916C>T	U20770	CCDS7909.1, CCDS31469.1	11p11.2	2013-02-14	2006-03-28	2005-03-03		ENSG00000085117		"CD molecules", "Tetraspanins"	6210	protein-coding gene	gene with protein product	"suppression of tumorigenicity 6", "R2 leukocyte antigen"	600623	"kangai 1 (suppression of tumorigenicity 6, prostate; CD82 antigen (R2 leukocyte antigen, antigen detected by monoclonal and antibody IA4))", "CD82 antigen"	ST6, KAI1			Standard	XM_006718222		Approved	R2, IA4, TSPAN27	uc001myc.3	P27701		ENST00000227155.4:c.273C>T	11.37:g.44626916C>T						CD82_ENST00000530931.1_3'UTR|CD82_ENST00000342935.3_Intron	p.F91F	NM_002231.3	NP_002222.1	P27701	CD82_HUMAN			6	521	+			91					D3DQN6|E9PC70|Q7Z2D4|Q7Z5N2	Silent	SNP	ENST00000227155.4	37	c.273C>T	CCDS7909.1																																																																																				0.617	CD82-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389886.1			27	32	0	0	0	0.041601	0	27	32					T	44626916	C	T	44626916	2	4	33	1	0	0	0	0	0	0	0	1	3040	854	30	3		3	CD82	11	44626916	Silent	SNP	C	TCGA-CH-5767-01A-11D-1786-08	23998279	44626916	90379600	31	1642											
ADAMTS15	170689	broad.mit.edu	37	chr11	130343148	130343148	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgctgcggtacagcggcaCgggcacagcggtggagagcc	7	5	17	12	4	1	1	0	0	1	1	1	2	1	1	1	5	6	4	1	5	1	1			TCGA-CH-5767-01A-11D-1786-08	TCGA-CH-5767-11B-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f07b8ebf-6f30-4011-b595-5571f05c364b	1ff17ff8-6ebe-4775-bc2a-07db1eadb340	g.chr11:130343148C>T	ENST00000299164.2	+	8	2285	c.2285C>T	c.(2284-2286)aCg>aTg	p.T762M		NM_139055.2	NP_620686.1	Q8TE58	ATS15_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 15	762	Spacer.					proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.T762M(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(16)|pancreas(1)|prostate(1)|skin(8)|urinary_tract(1)	36	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0631)|Lung(977;0.215)		TACAGCGGCACGGGCACAGCG	0.672																																						ENST00000299164.2																			1	Substitution - Missense(1)	p.T762M(1)	prostate(1)	endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(16)|pancreas(1)|prostate(1)|skin(8)|urinary_tract(1)	36						c.(2284-2286)aCg>aTg		ADAM metallopeptidase with thrombospondin type 1 motif, 15							65	60	62					11																	130343148		2201	4297	6498	SO:0001583	missense	170689				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr11:130343148C>T	AJ315733	CCDS8488.1	11q25	2008-02-01	2005-08-19		ENSG00000166106	ENSG00000166106		"ADAM metallopeptidases with thrombospondin type 1 motif"	16305	protein-coding gene	gene with protein product		607509	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 15"			11867212	Standard	NM_139055		Approved		uc010scd.2	Q8TE58	OTTHUMG00000165657	ENST00000299164.2:c.2285C>T	11.37:g.130343148C>T	ENSP00000299164:p.Thr762Met						p.T762M	NM_139055.2	NP_620686.1	Q8TE58	ATS15_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.0631)|Lung(977;0.215)	8	2285	+	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)	762			Spacer.		Q32MI6	Missense_Mutation	SNP	ENST00000299164.2	37	c.2285C>T	CCDS8488.1	.	.	.	.	.	.	.	.	.	.	C	24.1	4.499082	0.85069	.	.	ENSG00000166106	ENST00000299164	T	0.52295	0.67	5.91	4.97	0.65823	ADAM-TS Spacer 1 (1);	.	.	.	.	T	0.70351	0.3214	M	0.80847	2.515	0.80722	D	1	D	0.89917	1.0	D	0.71870	0.975	T	0.75508	-0.3293	9	0.62326	D	0.03	.	16.8808	0.86062	0.0:0.8717:0.1283:0.0	.	762	Q8TE58	ATS15_HUMAN	M	762	ENSP00000299164:T762M	ENSP00000299164:T762M	T	+	2	0	ADAMTS15	129848358	1.000000	0.71417	0.893000	0.35052	0.980000	0.70556	5.737000	0.68606	1.455000	0.47813	0.655000	0.94253	ACG		0.672	ADAMTS15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385638.1	NM_139055		4	90	0	0	0	0.009096	0	4	90					T	130343148	C	T	130343148	3	4	33	1	0	0	0	0	1	0	0	0	260	536	19	1	2315	1	ADAMTS15	11	130343148	Missense_Mutation	SNP	C	TCGA-CH-5767-01A-11D-1786-08	85716232	130343148	4663368	32	1643											
PFDN5	5204	broad.mit.edu	37	chr12	53689395	53689395	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggagctgaatctgccgcagcTagaaatgctcaagaaccagc	13	6	11	11	1	2	3	1	1	1	2	2	4	2	4	2	1	6	4	2	1	5	1			TCGA-CH-5767-01A-11D-1786-08	TCGA-CH-5767-11B-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f07b8ebf-6f30-4011-b595-5571f05c364b	1ff17ff8-6ebe-4775-bc2a-07db1eadb340	g.chr12:53689395T>C	ENST00000551018.1	+	1	321	c.44T>C	c.(43-45)cTa>cCa	p.L15P	PFDN5_ENST00000550846.1_Missense_Mutation_p.L15P|PFDN5_ENST00000351500.3_Missense_Mutation_p.L15P|PFDN5_ENST00000334478.4_Missense_Mutation_p.L15P	NM_002624.3	NP_002615.2	Q99471	PFD5_HUMAN	prefoldin subunit 5	15					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of transcription, DNA-templated (GO:0045892)|protein folding (GO:0006457)|regulation of transcription, DNA-templated (GO:0006355)|retina development in camera-type eye (GO:0060041)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|prefoldin complex (GO:0016272)	transcription corepressor activity (GO:0003714)	p.L15P(1)		kidney(1)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|prostate(1)	8						CTGCCGCAGCTAGAAATGCTC	0.592																																						ENST00000551018.1																			1	Substitution - Missense(1)	p.L15P(1)	prostate(1)	kidney(1)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|prostate(1)	8						c.(43-45)cTa>cCa		prefoldin subunit 5							103	101	101					12																	53689395		2203	4300	6503	SO:0001583	missense	5204				'de novo' posttranslational protein folding|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent	nucleus|prefoldin complex	transcription corepressor activity|unfolded protein binding	g.chr12:53689395T>C	D89667	CCDS8853.1, CCDS8854.1	12q13.13	2008-05-14	2006-02-24						8869	protein-coding gene	gene with protein product		604899	"prefoldin 5"			9630229, 9792694	Standard	NM_002624		Approved	PFD5, MM-1	uc001scl.3	Q99471	OTTHUMG00000169675	ENST00000551018.1:c.44T>C	12.37:g.53689395T>C	ENSP00000447942:p.Leu15Pro					PFDN5_ENST00000550846.1_Missense_Mutation_p.L15P|PFDN5_ENST00000334478.4_Missense_Mutation_p.L15P|PFDN5_ENST00000351500.3_Missense_Mutation_p.L15P	p.L15P	NM_002624.3	NP_002615.2	Q99471	PFD5_HUMAN			1	321	+			15					A8K9A8|Q54AA8|Q9C083|Q9C084	Missense_Mutation	SNP	ENST00000551018.1	37	c.44T>C	CCDS8853.1	.	.	.	.	.	.	.	.	.	.	T	25.8	4.670440	0.88348	.	.	ENSG00000123349	ENST00000551018;ENST00000351500;ENST00000334478	D;T;D	0.83419	-1.72;-1.48;-1.72	5.73	5.73	0.89815	Prefoldin (1);	0.000000	0.64402	D	0.000001	D	0.85885	0.5801	M	0.92923	3.36	0.80722	D	1	B;P	0.43938	0.051;0.822	B;B	0.36464	0.048;0.225	D	0.88764	0.3259	10	0.59425	D	0.04	.	14.2815	0.66216	0.0:0.0:0.0:1.0	.	15;15	Q9C083;Q99471	.;PFD5_HUMAN	P	15	ENSP00000447942:L15P;ENSP00000266964:L15P;ENSP00000334188:L15P	ENSP00000243040:L15P	L	+	2	0	PFDN5	51975662	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.030000	0.70903	2.324000	0.78689	0.533000	0.62120	CTA		0.592	PFDN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405368.2			3	93	0	0	0	0.004672	0	3	93					C	53689395	T	C	53689395	3	2	33	1	0	0	0	0	1	0	0	0	11758	1522	53	4	46	4	PFDN5	12	53689395	Missense_Mutation	SNP	T	TCGA-CH-5767-01A-11D-1786-08		53689395	80162500	33	1644											
TBX3	6926	broad.mit.edu	37	chr12	115110035	115110035	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctggaggctgccgcagaggAggcggccgccgctgcggcca	5	3	19	14	5	0	1	0	0	0	1	0	3	0	3	4	6	2	4	4	6	0	0			TCGA-CH-5767-01A-11D-1786-08	TCGA-CH-5767-11B-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f07b8ebf-6f30-4011-b595-5571f05c364b	1ff17ff8-6ebe-4775-bc2a-07db1eadb340	g.chr12:115110035A>C	ENST00000257566.3	-	8	2232	c.1843T>G	c.(1843-1845)Tcc>Gcc	p.S615A	TBX3_ENST00000349155.2_Missense_Mutation_p.S595A	NM_016569.3	NP_057653.3	O15119	TBX3_HUMAN	T-box 3	615	Transcription repression.				anterior/posterior axis specification, embryo (GO:0008595)|atrioventricular bundle cell differentiation (GO:0003167)|blood vessel development (GO:0001568)|branching involved in mammary gland duct morphogenesis (GO:0060444)|cardiac muscle cell fate commitment (GO:0060923)|cell aging (GO:0007569)|cellular senescence (GO:0090398)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|female genitalia development (GO:0030540)|follicle-stimulating hormone secretion (GO:0046884)|forelimb morphogenesis (GO:0035136)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|limbic system development (GO:0021761)|luteinizing hormone secretion (GO:0032275)|male genitalia development (GO:0030539)|mammary gland development (GO:0030879)|mammary placode formation (GO:0060596)|mesoderm morphogenesis (GO:0048332)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epithelial cell differentiation (GO:0030857)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|organ morphogenesis (GO:0009887)|outflow tract morphogenesis (GO:0003151)|palate development (GO:0060021)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell proliferation (GO:0008284)|positive regulation of stem cell proliferation (GO:2000648)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|sinoatrial node cell development (GO:0060931)|skeletal system development (GO:0001501)|specification of organ position (GO:0010159)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)|ventricular septum morphogenesis (GO:0060412)	nucleus (GO:0005634)	RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.S615A(1)		breast(5)|endometrium(1)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0574)		GCCGCAGAGGAGGCGGCCGCC	0.662																																						ENST00000349155.2																			1	Substitution - Missense(1)	p.S615A(1)	prostate(1)	breast(5)|endometrium(1)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						c.(1783-1785)Tcc>Gcc		T-box 3							6	6	6					12																	115110035		1962	3956	5918	SO:0001583	missense	6926				anterior/posterior axis specification, embryo|anti-apoptosis|cell aging|embryonic arm morphogenesis|embryonic digit morphogenesis|female genitalia development|follicle-stimulating hormone secretion|luteinizing hormone secretion|male genitalia development|mesoderm morphogenesis|negative regulation of myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle|positive regulation of cell proliferation|regulation of transcription from RNA polymerase II promoter|skeletal system development	nucleus	sequence-specific DNA binding	g.chr12:115110035A>C	BC025258	CCDS9175.1, CCDS9176.1	12q24.21	2013-09-05	2008-07-31		ENSG00000135111	ENSG00000135111		"T-boxes"	11602	protein-coding gene	gene with protein product		601621	"ulnar mammary syndrome"	UMS		8988164	Standard	NM_005996		Approved	TBX3-ISO, XHL	uc001tvt.1	O15119	OTTHUMG00000169586	ENST00000257566.3:c.1843T>G	12.37:g.115110035A>C	ENSP00000257566:p.Ser615Ala					TBX3_ENST00000257566.3_Missense_Mutation_p.S615A	p.S595A	NM_005996.3	NP_005987.3	O15119	TBX3_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.0574)	7	2746	-	Medulloblastoma(191;0.163)|all_neural(191;0.178)		615			Transcription repression.		Q8TB20|Q9UKF8	Missense_Mutation	SNP	ENST00000257566.3	37	c.1783T>G	CCDS9176.1	.	.	.	.	.	.	.	.	.	.	A	2.080	-0.411004	0.04799	.	.	ENSG00000135111	ENST00000349155;ENST00000257566	D;D	0.87103	-2.21;-2.14	4.35	3.18	0.36537	.	0.596637	0.19583	N	0.110813	T	0.69142	0.3078	N	0.08118	0	0.47584	D	0.999467	B;B	0.06786	0.001;0.001	B;B	0.08055	0.003;0.002	T	0.59252	-0.7489	10	0.02654	T	1	.	9.9418	0.41585	0.8284:0.1715:0.0:0.0	.	595;615	O15119-2;O15119	.;TBX3_HUMAN	A	595;615	ENSP00000257567:S595A;ENSP00000257566:S615A	ENSP00000257566:S615A	S	-	1	0	TBX3	113594418	1.000000	0.71417	0.961000	0.40146	0.686000	0.39977	3.588000	0.53964	0.516000	0.28340	-0.313000	0.08912	TCC		0.662	TBX3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000404947.2	NM_016569, NM_005996		3	7	0	0	0	0.004672	0	3	7					C	115110035	A	C	115110035	3	2	33	1	0	0	0	0	1	0	0	0	15656	304	11	5	392	5	TBX3	12	115110035	Missense_Mutation	SNP	A	TCGA-CH-5767-01A-11D-1786-08	61420640	115110035	18741860	34	1645											
LHFP	10186	broad.mit.edu	37	chr13	40175053	40175053	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaacccatgagggcagtgaGcgccaccaggaggaggaggc	11	2	17	11	1	0	2	0	2	0	0	0	5	0	5	3	5	2	2	3	5	1	0			TCGA-CH-5767-01A-11D-1786-08	TCGA-CH-5767-11B-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f07b8ebf-6f30-4011-b595-5571f05c364b	1ff17ff8-6ebe-4775-bc2a-07db1eadb340	g.chr13:40175053G>A	ENST00000379589.3	-	2	763	c.301C>T	c.(301-303)Ctc>Ttc	p.L101F	LHFP_ENST00000495922.1_5'Flank	NM_005780.2	NP_005771.1	Q9Y693	LHFP_HUMAN	lipoma HMGIC fusion partner	101						integral component of membrane (GO:0016021)	DNA binding (GO:0003677)	p.L101F(1)	HMGA2/LHFP(2)	breast(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(6)|prostate(2)	13		Lung NSC(96;3.55e-06)|Breast(139;0.00408)|Ovarian(182;0.0107)|Prostate(109;0.0118)|Lung SC(185;0.0719)|Hepatocellular(188;0.114)		OV - Ovarian serous cystadenocarcinoma(117;6.48e-46)|Epithelial(112;8.43e-42)|all cancers(112;1.42e-36)|GBM - Glioblastoma multiforme(144;0.00187)|BRCA - Breast invasive adenocarcinoma(63;0.00886)|KIRC - Kidney renal clear cell carcinoma(186;0.048)|Kidney(163;0.0601)|LUSC - Lung squamous cell carcinoma(192;0.105)		AGGGCAGTGAGCGCCACCAGG	0.587			T	HMGA2	lipoma																																	ENST00000379589.3				Dom	yes		13	13q12	10186	T	lipoma HMGIC fusion partner			M	HMGA2		lipoma	HMGA2/LHFP(2)	1	Substitution - Missense(1)	p.L101F(1)	prostate(1)	breast(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(6)|prostate(2)	13						c.(301-303)Ctc>Ttc		lipoma HMGIC fusion partner							132	129	130					13																	40175053		2203	4300	6503	SO:0001583	missense	10186					integral to membrane	DNA binding	g.chr13:40175053G>A	AF098807	CCDS9369.1	13q12	2008-07-18			ENSG00000183722	ENSG00000183722			6586	protein-coding gene	gene with protein product		606710				10329012	Standard	NM_005780		Approved	MGC22429	uc001uxf.3	Q9Y693	OTTHUMG00000016767	ENST00000379589.3:c.301C>T	13.37:g.40175053G>A	ENSP00000368908:p.Leu101Phe						p.L101F	NM_005780.2	NP_005771.1	Q9Y693	LHFP_HUMAN		OV - Ovarian serous cystadenocarcinoma(117;6.48e-46)|Epithelial(112;8.43e-42)|all cancers(112;1.42e-36)|GBM - Glioblastoma multiforme(144;0.00187)|BRCA - Breast invasive adenocarcinoma(63;0.00886)|KIRC - Kidney renal clear cell carcinoma(186;0.048)|Kidney(163;0.0601)|LUSC - Lung squamous cell carcinoma(192;0.105)	2	763	-		Lung NSC(96;3.55e-06)|Breast(139;0.00408)|Ovarian(182;0.0107)|Prostate(109;0.0118)|Lung SC(185;0.0719)|Hepatocellular(188;0.114)	101					B2R7M2|Q53FC0|Q96SH5	Missense_Mutation	SNP	ENST00000379589.3	37	c.301C>T	CCDS9369.1	.	.	.	.	.	.	.	.	.	.	G	11.13	1.547714	0.27652	.	.	ENSG00000183722	ENST00000379589	T	0.73469	-0.75	5.38	4.53	0.55603	.	0.206642	0.31601	N	0.007375	T	0.68705	0.3030	L	0.45470	1.425	0.54753	D	0.999987	B	0.26363	0.147	B	0.33690	0.168	T	0.63844	-0.6545	9	.	.	.	.	12.5831	0.56401	0.0802:0.0:0.9198:0.0	.	101	Q9Y693	LHFP_HUMAN	F	101	ENSP00000368908:L101F	.	L	-	1	0	LHFP	39073053	1.000000	0.71417	0.758000	0.31321	0.054000	0.15201	6.355000	0.73041	2.522000	0.85027	0.655000	0.94253	CTC		0.587	LHFP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044619.1	NM_005780		12	136	0	0	0	0.09319	0	12	136					A	40175053	G	A	40175053	3	1	33	1	0	0	0	0	1	0	0	0	8763	971	34	3	313	3	LHFP	13	40175053	Missense_Mutation	SNP	G	TCGA-CH-5767-01A-11D-1786-08		40175053	74994825	35	1646											
DGKH	160851	broad.mit.edu	37	chr13	42761271	42761271	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	aaatgccgttgtagctgatgCcgtggccagtaaagtaagag	12	9	13	7	2	0	2	0	1	0	1	0	2	0	2	3	1	3	5	3	1	5	4			TCGA-CH-5767-01A-11D-1786-08	TCGA-CH-5767-11B-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f07b8ebf-6f30-4011-b595-5571f05c364b	1ff17ff8-6ebe-4775-bc2a-07db1eadb340	g.chr13:42761271C>T	ENST00000337343.4	+	14	1646	c.1625C>T	c.(1624-1626)gCc>gTc	p.A542V	DGKH_ENST00000498255.2_3'UTR|DGKH_ENST00000261491.5_Missense_Mutation_p.A542V|DGKH_ENST00000538674.1_Missense_Mutation_p.A297V|DGKH_ENST00000536612.1_Missense_Mutation_p.A406V|DGKH_ENST00000379274.2_Missense_Mutation_p.A406V|DGKH_ENST00000540693.1_Missense_Mutation_p.A542V	NM_178009.3	NP_821077.1	Q86XP1	DGKH_HUMAN	diacylglycerol kinase, eta	542					blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein oligomerization (GO:0051259)	cytoplasm (GO:0005737)|endosome (GO:0005768)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)	p.A542V(1)		breast(2)|endometrium(3)|kidney(5)|large_intestine(11)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43		Lung NSC(96;1.02e-05)|Prostate(109;0.0168)|Lung SC(185;0.0262)|Breast(139;0.0709)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;5.88e-05)|GBM - Glioblastoma multiforme(144;0.000935)|BRCA - Breast invasive adenocarcinoma(63;0.109)		GTAGCTGATGCCGTGGCCAGT	0.423																																						ENST00000379274.2																			1	Substitution - Missense(1)	p.A542V(1)	prostate(1)	breast(2)|endometrium(3)|kidney(5)|large_intestine(11)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						c.(1216-1218)gCc>gTc		diacylglycerol kinase, eta							110	122	118					13																	42761271		2203	4300	6503	SO:0001583	missense	160851				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation|protein oligomerization	endosome|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding	g.chr13:42761271C>T	AB078967	CCDS9381.1, CCDS9382.1, CCDS55898.1	13q13.3	2013-01-10			ENSG00000102780	ENSG00000102780		"Sterile alpha motif (SAM) domain containing", "Pleckstrin homology (PH) domain containing"	2854	protein-coding gene	gene with protein product		604071				8702685	Standard	XM_005266271		Approved	DGKeta	uc001uyl.2	Q86XP1	OTTHUMG00000016804	ENST00000337343.4:c.1625C>T	13.37:g.42761271C>T	ENSP00000337572:p.Ala542Val					DGKH_ENST00000337343.4_Missense_Mutation_p.A542V|DGKH_ENST00000261491.4_Missense_Mutation_p.A542V|DGKH_ENST00000498255.2_3'UTR|DGKH_ENST00000540693.1_Missense_Mutation_p.A542V|DGKH_ENST00000538674.1_Missense_Mutation_p.A297V|DGKH_ENST00000536612.1_Missense_Mutation_p.A406V	p.A406V			Q86XP1	DGKH_HUMAN		OV - Ovarian serous cystadenocarcinoma(117;5.88e-05)|GBM - Glioblastoma multiforme(144;0.000935)|BRCA - Breast invasive adenocarcinoma(63;0.109)	14	1646	+		Lung NSC(96;1.02e-05)|Prostate(109;0.0168)|Lung SC(185;0.0262)|Breast(139;0.0709)|Hepatocellular(98;0.114)	542			DAGKc.		A2A2W7|A6NFX7|B4DZ34|Q5VZW0|Q6PI56|Q86XP2|Q8N3N0|Q8N7J9	Missense_Mutation	SNP	ENST00000337343.4	37	c.1217C>T	CCDS9381.1	.	.	.	.	.	.	.	.	.	.	C	7.300	0.612818	0.14066	.	.	ENSG00000102780	ENST00000540693;ENST00000337343;ENST00000261491;ENST00000379274;ENST00000536612;ENST00000538674	T;T;T;T;T;T	0.79845	-1.31;-1.13;-1.31;-1.3;-1.3;1.93	5.57	5.57	0.84162	.	0.337778	0.31554	N	0.007454	T	0.74496	0.3724	L	0.38531	1.155	0.48040	D	0.999576	B;B;B;B	0.16802	0.0;0.0;0.019;0.0	B;B;B;B	0.17098	0.003;0.007;0.017;0.002	T	0.67738	-0.5593	10	0.19590	T	0.45	.	19.557	0.95354	0.0:1.0:0.0:0.0	.	297;406;542;542	F5GYP2;Q86XP1-3;Q86XP1-2;Q86XP1	.;.;.;DGKH_HUMAN	V	542;542;542;406;406;297	ENSP00000440823:A542V;ENSP00000337572:A542V;ENSP00000261491:A542V;ENSP00000368576:A406V;ENSP00000445114:A406V;ENSP00000441308:A297V	ENSP00000261491:A542V	A	+	2	0	DGKH	41659271	0.019000	0.18553	0.352000	0.25734	0.011000	0.07611	2.418000	0.44662	2.630000	0.89119	0.655000	0.94253	GCC		0.423	DGKH-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044699.2	NM_178009		4	170	0	0	0	0.014758	0	4	170					T	42761271	C	T	42761271	3	4	33	1	0	0	0	0	1	0	0	0	4470	739	26	3	1679	3	DGKH	13	42761271	Missense_Mutation	SNP	C	TCGA-CH-5767-01A-11D-1786-08	2586218	42761271	72408607	36	1647											
BBS4	585	broad.mit.edu	37	chr15	73015166	73015166	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	taacctaggagtttgctacaTatacctgaagcagttcaaca	14	11	7	9	0	1	1	1	1	0	0	1	2	1	2	2	1	6	4	2	1	7	7			TCGA-CH-5767-01A-11D-1786-08	TCGA-CH-5767-11B-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f07b8ebf-6f30-4011-b595-5571f05c364b	1ff17ff8-6ebe-4775-bc2a-07db1eadb340	g.chr15:73015166T>A	ENST00000268057.4	+	7	478	c.437T>A	c.(436-438)aTa>aAa	p.I146K	BBS4_ENST00000542334.1_5'UTR|BBS4_ENST00000564239.1_3'UTR|BBS4_ENST00000395205.2_Missense_Mutation_p.I154K|BBS4_ENST00000539603.1_Missense_Mutation_p.I134K	NM_033028.4	NP_149017.2	Q96RK4	BBS4_HUMAN	Bardet-Biedl syndrome 4	146	Interaction with PCM1.				adult behavior (GO:0030534)|brain morphogenesis (GO:0048854)|centrosome organization (GO:0051297)|cerebral cortex development (GO:0021987)|cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|convergent extension involved in gastrulation (GO:0060027)|dendrite development (GO:0016358)|fat cell differentiation (GO:0045444)|heart looping (GO:0001947)|hippocampus development (GO:0021766)|intracellular transport (GO:0046907)|maintenance of protein location in nucleus (GO:0051457)|melanosome transport (GO:0032402)|metabolic process (GO:0008152)|microtubule anchoring at centrosome (GO:0034454)|microtubule cytoskeleton organization (GO:0000226)|mitotic cytokinesis (GO:0000281)|negative regulation of appetite by leptin-mediated signaling pathway (GO:0038108)|negative regulation of gene expression (GO:0010629)|negative regulation of systemic arterial blood pressure (GO:0003085)|neural tube closure (GO:0001843)|nonmotile primary cilium assembly (GO:0035058)|photoreceptor cell maintenance (GO:0045494)|pigment granule aggregation in cell center (GO:0051877)|positive regulation of cilium assembly (GO:0045724)|positive regulation of multicellular organism growth (GO:0040018)|protein localization to centrosome (GO:0071539)|protein localization to organelle (GO:0033365)|protein transport (GO:0015031)|regulation of cilium beat frequency involved in ciliary motility (GO:0060296)|regulation of cytokinesis (GO:0032465)|regulation of lipid metabolic process (GO:0019216)|retina homeostasis (GO:0001895)|retinal rod cell development (GO:0046548)|sensory perception of smell (GO:0007608)|sensory processing (GO:0050893)|spermatid development (GO:0007286)|striatum development (GO:0021756)|visual perception (GO:0007601)	BBSome (GO:0034464)|centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|ciliary membrane (GO:0060170)|cilium (GO:0005929)|motile cilium (GO:0031514)|nonmotile primary cilium (GO:0031513)|pericentriolar material (GO:0000242)	alpha-tubulin binding (GO:0043014)|beta-tubulin binding (GO:0048487)|dynactin binding (GO:0034452)|microtubule motor activity (GO:0003777)|RNA polymerase II repressing transcription factor binding (GO:0001103)	p.I146K(1)		autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|prostate(2)|urinary_tract(1)	19						GTTTGCTACATATACCTGAAG	0.373									Bardet-Biedl syndrome																													ENST00000268057.4																			1	Substitution - Missense(1)	p.I146K(1)	prostate(1)	autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|prostate(2)|urinary_tract(1)	19						c.(436-438)aTa>aAa		Bardet-Biedl syndrome 4							112	105	107					15																	73015166		2198	4297	6495	SO:0001583	missense	585	Bardet-Biedl syndrome	Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome	adult behavior|brain morphogenesis|cell cycle cytokinesis|centrosome organization|cerebral cortex development|convergent extension involved in gastrulation|dendrite development|fat cell differentiation|heart looping|hippocampus development|intracellular transport|maintenance of protein location in nucleus|melanosome transport|microtubule anchoring at centrosome|neural tube closure|nonmotile primary cilium assembly|photoreceptor cell maintenance|pigment granule aggregation in cell center|positive regulation of flagellum assembly|regulation of cilium beat frequency involved in ciliary motility|regulation of cytokinesis|regulation of lipid metabolic process|retina homeostasis|retinal rod cell development|sensory perception of smell|sensory processing|spermatid development|striatum development	BBSome|centriolar satellite|centriole|cilium membrane|microtubule basal body|motile cilium|nonmotile primary cilium|nucleus|pericentriolar material	alpha-tubulin binding|beta-tubulin binding|dynactin binding|microtubule motor activity	g.chr15:73015166T>A	AF090947	CCDS10246.1, CCDS58377.1	15q22.3-q23	2013-01-10			ENSG00000140463	ENSG00000140463		"Tetratricopeptide (TTC) repeat domain containing"	969	protein-coding gene	gene with protein product		600374				7711739, 11381270	Standard	NM_033028		Approved		uc002avb.3	Q96RK4	OTTHUMG00000133510	ENST00000268057.4:c.437T>A	15.37:g.73015166T>A	ENSP00000268057:p.Ile146Lys					BBS4_ENST00000395205.2_Missense_Mutation_p.I154K|BBS4_ENST00000542334.1_5'UTR|BBS4_ENST00000564239.1_3'UTR|BBS4_ENST00000539603.1_Missense_Mutation_p.I134K	p.I146K	NM_033028.4	NP_149017.2	Q96RK4	BBS4_HUMAN			7	478	+			146			Interaction with PCM1.		B4E178|Q53DZ5|Q8NHU9|Q96H45	Missense_Mutation	SNP	ENST00000268057.4	37	c.437T>A	CCDS10246.1	.	.	.	.	.	.	.	.	.	.	T	12.97	2.098500	0.37048	.	.	ENSG00000140463	ENST00000268057;ENST00000539603;ENST00000395205	T;T;T	0.59772	0.24;0.24;0.24	5.34	4.21	0.49690	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.341254	0.38058	N	0.001828	T	0.36496	0.0969	N	0.17474	0.49	0.80722	D	1	B;B;B	0.24426	0.001;0.103;0.004	B;B;B	0.23574	0.012;0.047;0.027	T	0.09530	-1.0670	10	0.09338	T	0.73	-3.3588	10.3598	0.43987	0.0:0.0786:0.0:0.9214	.	134;154;146	F5H7I8;Q96RK4-2;Q96RK4	.;.;BBS4_HUMAN	K	146;134;154	ENSP00000268057:I146K;ENSP00000442492:I134K;ENSP00000378631:I154K	ENSP00000268057:I146K	I	+	2	0	BBS4	70802219	1.000000	0.71417	0.998000	0.56505	0.816000	0.46133	5.788000	0.69020	0.873000	0.35799	0.455000	0.32223	ATA		0.373	BBS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257473.2	NM_033028		18	46	0	0	0	0.049695	0	18	46					A	73015166	T	A	73015166	3	1	33	1	0	0	0	0	1	0	0	0	1339	1406	49	5	463	5	BBS4	15	73015166	Missense_Mutation	SNP	T	TCGA-CH-5767-01A-11D-1786-08		73015166	29516226	37	1648											
TAOK2	9344	broad.mit.edu	37	chr16	29996717	29996717	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aggcgcagcgggctggctttGgggcagaggcagaaaagctg	9	5	19	8	2	0	2	0	0	0	2	0	2	0	2	0	6	2	6	0	6	2	1			TCGA-CH-5767-01A-11D-1786-08	TCGA-CH-5767-11B-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f07b8ebf-6f30-4011-b595-5571f05c364b	1ff17ff8-6ebe-4775-bc2a-07db1eadb340	g.chr16:29996717G>T	ENST00000308893.4	+	14	2649	c.1606G>T	c.(1606-1608)Ggg>Tgg	p.G536W	TAOK2_ENST00000279394.3_Missense_Mutation_p.G536W|TAOK2_ENST00000416441.2_Missense_Mutation_p.G363W|TAOK2_ENST00000543033.1_Missense_Mutation_p.G536W	NM_001252043.1|NM_016151.3	NP_001238972.1|NP_057235.2	Q9UL54	TAOK2_HUMAN	TAO kinase 2	536					actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|apoptotic process (GO:0006915)|cell migration (GO:0016477)|cellular response to DNA damage stimulus (GO:0006974)|focal adhesion assembly (GO:0048041)|G2 DNA damage checkpoint (GO:0031572)|positive regulation of JNK cascade (GO:0046330)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein targeting to membrane (GO:0006612)|regulation of cell growth (GO:0001558)|regulation of cell shape (GO:0008360)|response to stress (GO:0006950)|stress-activated MAPK cascade (GO:0051403)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|nucleolus (GO:0005730)|nucleus (GO:0005634)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|mitogen-activated protein kinase kinase binding (GO:0031434)|protein serine/threonine kinase activity (GO:0004674)	p.G536W(3)		breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1)	22						GGCTGGCTTTGGGGCAGAGGC	0.672																																						ENST00000308893.4																			3	Substitution - Missense(3)	p.G536W(3)	prostate(3)	breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1)	22						c.(1606-1608)Ggg>Tgg		TAO kinase 2							16	16	16					16																	29996717		2189	4294	6483	SO:0001583	missense	9344				actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress	cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus	ATP binding|protein serine/threonine kinase activity	g.chr16:29996717G>T	AB020688	CCDS10662.1, CCDS10663.1, CCDS58448.1	16p11.2	2008-02-05			ENSG00000149930	ENSG00000149930			16835	protein-coding gene	gene with protein product		613199				10048485, 9786855	Standard	NM_016151		Approved	TAO1, KIAA0881, PSK, PSK1, TAO2, MAP3K17	uc002dva.2	Q9UL54	OTTHUMG00000132111	ENST00000308893.4:c.1606G>T	16.37:g.29996717G>T	ENSP00000310094:p.Gly536Trp					TAOK2_ENST00000543033.1_Missense_Mutation_p.G536W|TAOK2_ENST00000416441.2_Missense_Mutation_p.G363W|TAOK2_ENST00000279394.3_Missense_Mutation_p.G536W	p.G536W	NM_001252043.1|NM_016151.3	NP_001238972.1|NP_057235.2	Q9UL54	TAOK2_HUMAN			14	2649	+			536					A5PKY1|A7MCZ2|B2RN35|B7ZM88|O94957|Q6UW73|Q7LC09|Q9NSW2	Missense_Mutation	SNP	ENST00000308893.4	37	c.1606G>T	CCDS10663.1	.	.	.	.	.	.	.	.	.	.	G	17.59	3.427569	0.62733	.	.	ENSG00000149930	ENST00000416441;ENST00000308893;ENST00000543033;ENST00000279394	T;T;T	0.42513	0.97;0.97;0.97	5.51	5.51	0.81932	.	0.189593	0.44483	D	0.000458	T	0.52451	0.1735	L	0.40543	1.245	0.39482	D	0.967902	D;D;D;D;D	0.89917	0.999;1.0;0.982;0.969;0.999	D;D;D;P;D	0.74674	0.924;0.984;0.915;0.781;0.972	T	0.49862	-0.8894	9	.	.	.	.	11.8049	0.52150	0.0:0.0:0.7184:0.2815	.	727;363;536;536;536	Q86V37;Q9UL54-3;Q9UL54-2;A0PJ48;Q9UL54	.;.;.;.;TAOK2_HUMAN	W	536	ENSP00000310094:G536W;ENSP00000440336:G536W;ENSP00000279394:G536W	.	G	+	1	0	TAOK2	29904218	1.000000	0.71417	1.000000	0.80357	0.745000	0.42441	4.396000	0.59684	2.580000	0.87095	0.563000	0.77884	GGG		0.672	TAOK2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000255152.2	NM_016151		8	10	1	0	0.00307968	0.038147	0.00354163	8	10					T	29996717	G	T	29996717	3	4	33	1	0	0	0	0	1	0	0	0	15545	1348	47	5	1656	5	TAOK2	16	29996717	Missense_Mutation	SNP	G	TCGA-CH-5767-01A-11D-1786-08		29996717	60358036	38	1649											
FUK	197258	broad.mit.edu	37	chr16	70508758	70508758	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctgtgctgggcctggctgtgCgagtggacggccgccggccc	2	7	18	14	4	0	0	0	0	0	0	0	2	0	1	4	5	2	2	4	5	0	0	rs562205568		TCGA-CH-5767-01A-11D-1786-08	TCGA-CH-5767-11B-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f07b8ebf-6f30-4011-b595-5571f05c364b	1ff17ff8-6ebe-4775-bc2a-07db1eadb340	g.chr16:70508758C>T	ENST00000288078.6	+	18	2453	c.2221C>T	c.(2221-2223)Cga>Tga	p.R741*	FUK_ENST00000571514.1_Nonsense_Mutation_p.R232*|FUK_ENST00000378912.2_Nonsense_Mutation_p.R773*	NM_145059.2	NP_659496.2	Q8N0W3	FUK_HUMAN	fucokinase	741						cytoplasm (GO:0005737)	ATP binding (GO:0005524)|fucokinase activity (GO:0050201)	p.R741*(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(11)|ovary(2)|prostate(2)	23		Ovarian(137;0.0694)				CCTGGCTGTGCGAGTGGACGG	0.677																																						ENST00000288078.6																			1	Substitution - Nonsense(1)	p.R741*(1)	prostate(1)	endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(11)|ovary(2)|prostate(2)	23						c.(2221-2223)Cga>Tga		fucokinase							10	14	13					16																	70508758		2077	4187	6264	SO:0001587	stop_gained	197258					cytoplasm	ATP binding|fucokinase activity	g.chr16:70508758C>T		CCDS10891.2	16q22.1	2008-02-05			ENSG00000157353	ENSG00000157353	2.7.1.52		29500	protein-coding gene	gene with protein product	"L-fucose kinase"	608675				12056818	Standard	XM_006721161		Approved	FLJ39408	uc002eyy.3	Q8N0W3	OTTHUMG00000074085	ENST00000288078.6:c.2221C>T	16.37:g.70508758C>T	ENSP00000288078:p.Arg741*					FUK_ENST00000571514.1_Nonsense_Mutation_p.R232*|FUK_ENST00000378912.2_Nonsense_Mutation_p.R773*	p.R741*	NM_145059.2	NP_659496.2	Q8N0W3	FUK_HUMAN			18	2453	+		Ovarian(137;0.0694)	741					Q5PSM3|Q5XKL6|Q6ZRA0|Q96MT9	Nonsense_Mutation	SNP	ENST00000288078.6	37	c.2221C>T	CCDS10891.2	.	.	.	.	.	.	.	.	.	.	C	41	8.884543	0.98990	.	.	ENSG00000157353	ENST00000288078;ENST00000378912;ENST00000538525	.	.	.	5.09	3.01	0.34805	.	0.487973	0.22622	N	0.057687	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.12103	T	0.63	-4.61	14.1204	0.65184	0.2708:0.7292:0.0:0.0	.	.	.	.	X	741;773;55	.	ENSP00000288078:R741X	R	+	1	2	FUK	69066259	1.000000	0.71417	0.999000	0.59377	0.977000	0.68977	1.758000	0.38410	1.367000	0.46095	0.655000	0.94253	CGA		0.677	FUK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157291.2	NM_145059		4	13	0	0	0	0.014758	0	4	13					T	70508758	C	T	70508758	4	4	33	1	0	0	0	0	0	1	0	0	6096	760	27	1	2287	1	FUK	16	70508758	Nonsense_Mutation	SNP	C	TCGA-CH-5767-01A-11D-1786-08	40512041	70508758	19845995	39	1650											
IL34	146433	broad.mit.edu	37	chr16	70693984	70693984	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agagccctcattgcagtatgCggccacccagctgtaccctc	8	8	9	16	1	1	1	1	0	0	1	2	1	1	1	4	1	5	4	4	1	2	3	rs201277640		TCGA-CH-5767-01A-11D-1786-08	TCGA-CH-5767-11B-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f07b8ebf-6f30-4011-b595-5571f05c364b	1ff17ff8-6ebe-4775-bc2a-07db1eadb340	g.chr16:70693984C>T	ENST00000288098.2	+	6	1006	c.623C>T	c.(622-624)gCg>gTg	p.A208V	IL34_ENST00000566361.1_Missense_Mutation_p.A183V|FLJ00418_ENST00000597002.1_5'Flank|IL34_ENST00000429149.2_Missense_Mutation_p.A208V	NM_001172772.1	NP_001166243.1	Q6ZMJ4	IL34_HUMAN	interleukin 34	208					inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of cell proliferation (GO:0008284)|positive regulation of protein phosphorylation (GO:0001934)	extracellular space (GO:0005615)	macrophage colony-stimulating factor receptor binding (GO:0005157)	p.A208V(1)		breast(1)|central_nervous_system(1)|kidney(9)|large_intestine(1)|lung(1)|skin(2)|urinary_tract(2)	17						TTGCAGTATGCGGCCACCCAG	0.647													C|||	1	0.000199681	0	0	5008	,	,		14065	0		0.001	False		,,,				2504	0					ENST00000429149.2																			1	Substitution - Missense(1)	p.A208V(1)	urinary_tract(1)	breast(1)|central_nervous_system(1)|kidney(9)|large_intestine(1)|lung(1)|skin(2)|urinary_tract(2)	17						c.(622-624)gCg>gTg		interleukin 34		C	VAL/ALA,VAL/ALA,VAL/ALA	1,4395	2.1+/-5.4	0,1,2197	96	105	102		620,623,623	-3.1	0	16		102	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	IL34	NM_001172771.1,NM_001172772.1,NM_152456.2	64,64,64	0,2,6496	TT,TC,CC		0.0116,0.0227,0.0154	benign,benign,benign	207/242,208/243,208/243	70693984	2,12994	2198	4300	6498	SO:0001583	missense	146433				positive regulation of cell proliferation|positive regulation of protein phosphorylation	extracellular space	cytokine activity|growth factor activity|macrophage colony-stimulating factor receptor binding	g.chr16:70693984C>T	BC029804	CCDS10895.1	16q22.1	2008-08-01	2008-06-04	2008-06-04	ENSG00000157368	ENSG00000157368		"Interleukins and interleukin receptors"	28529	protein-coding gene	gene with protein product		612081	"chromosome 16 open reading frame 77"	C16orf77		18467591	Standard	NM_152456		Approved	MGC34647, IL-34	uc002ezh.2	Q6ZMJ4	OTTHUMG00000137581	ENST00000288098.2:c.623C>T	16.37:g.70693984C>T	ENSP00000288098:p.Ala208Val					IL34_ENST00000566361.1_Missense_Mutation_p.A183V|IL34_ENST00000288098.2_Missense_Mutation_p.A208V	p.A208V	NM_001172771.1|NM_152456.2	NP_001166242.1|NP_689669.2	Q6ZMJ4	IL34_HUMAN			7	1178	+			208					B2RC28|B2Z4A8|B2ZC70|Q8N6L2	Missense_Mutation	SNP	ENST00000288098.2	37	c.623C>T	CCDS10895.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	1.250	-0.618797	0.03663	2.27E-4	1.16E-4	ENSG00000157368	ENST00000429149;ENST00000288098	T;T	0.34667	1.35;1.35	4.69	-3.08	0.05347	.	2.218580	0.03059	N	0.155676	T	0.10294	0.0252	N	0.01352	-0.895	0.09310	N	1	B;B	0.17465	0.022;0.022	B;B	0.08055	0.003;0.003	T	0.24261	-1.0165	10	0.05436	T	0.98	-0.0424	4.1458	0.10215	0.4149:0.3737:0.0:0.2114	.	207;208	Q6ZMJ4-2;Q6ZMJ4	.;IL34_HUMAN	V	208	ENSP00000397863:A208V;ENSP00000288098:A208V	ENSP00000288098:A208V	A	+	2	0	IL34	69251485	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-1.807000	0.01734	-0.832000	0.04251	-1.552000	0.00895	GCG		0.647	IL34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268971.3	NM_152456		4	149	0	0	0	0.009096	0	4	149					T	70693984	C	T	70693984	3	4	33	1	0	0	0	0	1	0	0	0	7694	768	27	1	645	1	IL34	16	70693984	Missense_Mutation	SNP	C	TCGA-CH-5767-01A-11D-1786-08	185226	70693984	19660769	40	1651											
MED1	5469	broad.mit.edu	37	chr17	37566711	37566711	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agtcctccccatggcccaccGactcatgccgatctttgatg	7	10	8	16	2	2	1	1	1	1	0	4	3	4	1	6	1	1	0	6	1	0	1			TCGA-CH-5767-01A-11D-1786-08	TCGA-CH-5767-11B-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f07b8ebf-6f30-4011-b595-5571f05c364b	1ff17ff8-6ebe-4775-bc2a-07db1eadb340	g.chr17:37566711G>A	ENST00000300651.6	-	17	1986	c.1763C>T	c.(1762-1764)tCg>tTg	p.S588L	MED1_ENST00000394287.3_Intron	NM_004774.3	NP_004765.2	O95243	MBD4_HUMAN	mediator complex subunit 1	0					base-excision repair (GO:0006284)|base-excision repair, AP site formation (GO:0006285)|depyrimidination (GO:0045008)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|mitotic G2 DNA damage checkpoint (GO:0007095)|response to radiation (GO:0009314)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	endodeoxyribonuclease activity (GO:0004520)|pyrimidine-specific mismatch base pair DNA N-glycosylase activity (GO:0008263)|satellite DNA binding (GO:0003696)	p.S588L(1)		NS(1)|breast(2)|cervix(3)|kidney(3)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(7)|urinary_tract(1)	59		Ovarian(249;1.78e-06)|Lung SC(565;0.0262)	Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146)	UCEC - Uterine corpus endometrioid carcinoma (308;6.64e-05)|BRCA - Breast invasive adenocarcinoma(366;0.00136)|READ - Rectum adenocarcinoma(1115;0.0649)		ATGGCCCACCGACTCATGCCG	0.512										HNSCC(31;0.082)																											Pancreas(21;279 768 2492 4877 24026)	ENST00000300651.6																			1	Substitution - Missense(1)	p.S588L(1)	prostate(1)	NS(1)|breast(2)|cervix(3)|kidney(3)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(7)|urinary_tract(1)	59						c.(1762-1764)tCg>tTg		mediator complex subunit 1							160	145	150					17																	37566711		2203	4300	6503	SO:0001583	missense	5469				androgen biosynthetic process|androgen receptor signaling pathway|cellular lipid metabolic process|fat cell differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription initiation from RNA polymerase II promoter	mediator complex	DNA binding|estrogen receptor binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|peroxisome proliferator activated receptor binding|receptor activity|retinoic acid receptor binding|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	g.chr17:37566711G>A	L40366	CCDS11336.1	17q12	2007-07-30	2007-07-30	2007-07-30	ENSG00000125686	ENSG00000125686			9234	protein-coding gene	gene with protein product		604311	"PPAR binding protein"	TRIP2, PPARGBP, PPARBP		9325263, 10485914	Standard	NM_004774		Approved	PBP, TRAP220, RB18A, DRIP230, CRSP200, CRSP1	uc002hrv.4	Q15648	OTTHUMG00000133216	ENST00000300651.6:c.1763C>T	17.37:g.37566711G>A	ENSP00000300651:p.Ser588Leu	HNSCC(31;0.082)				MED1_ENST00000394287.3_Intron	p.S588L	NM_004774.3	NP_004765.2	Q15648	MED1_HUMAN	Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146)	UCEC - Uterine corpus endometrioid carcinoma (308;6.64e-05)|BRCA - Breast invasive adenocarcinoma(366;0.00136)|READ - Rectum adenocarcinoma(1115;0.0649)	17	1986	-		Ovarian(249;1.78e-06)|Lung SC(565;0.0262)	588			Interaction with ESR1.|Interaction with THRA.|Interaction with VDR.|Interaction with the Mediator complex and THRA.		B4DZN2|D3DNC3|D3DNC4|E9PEE4|Q2MD36|Q7Z4T3|Q96F09	Missense_Mutation	SNP	ENST00000300651.6	37	c.1763C>T	CCDS11336.1	.	.	.	.	.	.	.	.	.	.	G	16.57	3.160367	0.57368	.	.	ENSG00000125686	ENST00000300651	T	0.54279	0.58	5.8	5.8	0.92144	.	.	.	.	.	T	0.38746	0.1052	N	0.19112	0.55	0.49213	D	0.999769	P	0.39665	0.682	B	0.28991	0.097	T	0.43114	-0.9411	9	0.66056	D	0.02	-3.3316	20.0505	0.97625	0.0:0.0:1.0:0.0	.	588	Q15648	MED1_HUMAN	L	588	ENSP00000300651:S588L	ENSP00000300651:S588L	S	-	2	0	MED1	34820237	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.292000	0.59031	2.739000	0.93911	0.561000	0.74099	TCG		0.512	MED1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256943.3	NM_004774		33	82	0	0	0	0.080422	0	33	82					A	37566711	G	A	37566711	3	1	33	1	0	0	0	0	1	0	0	0	9425	1059	37	2	2986	2	MED1	17	37566711	Missense_Mutation	SNP	G	TCGA-CH-5767-01A-11D-1786-08		37566711	43628499	41	1652											
BZRAP1	9256	broad.mit.edu	37	chr17	56385061	56385061	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ggggtcatagtcaaacagagCcacaaagatcctgacgggta	14	6	12	9	1	2	3	2	1	0	2	3	3	3	3	2	3	2	1	2	3	4	2			TCGA-CH-5767-01A-11D-1786-08	TCGA-CH-5767-11B-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f07b8ebf-6f30-4011-b595-5571f05c364b	1ff17ff8-6ebe-4775-bc2a-07db1eadb340	g.chr17:56385061C>A	ENST00000343736.4	-	24	5057	c.4894G>T	c.(4894-4896)Gct>Tct	p.A1632S	BZRAP1_ENST00000355701.3_Missense_Mutation_p.A1632S|BZRAP1_ENST00000268893.6_Missense_Mutation_p.A1572S			O95153	RIMB1_HUMAN	benzodiazepine receptor (peripheral) associated protein 1	1632	SH3 2. {ECO:0000255|PROSITE- ProRule:PRU00192}.					cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	benzodiazepine receptor binding (GO:0030156)	p.A1632S(3)		cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TCAAACAGAGCCACAAAGATC	0.567																																						ENST00000355701.3																			3	Substitution - Missense(3)	p.A1632S(3)	prostate(3)	cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	54						c.(4894-4896)Gct>Tct		benzodiazapine receptor (peripheral) associated protein 1							137	107	117					17																	56385061		2203	4300	6503	SO:0001583	missense	9256					mitochondrion	benzodiazepine receptor binding	g.chr17:56385061C>A	AB014512	CCDS11605.1, CCDS45742.1	17q22-q23	2014-01-09	2014-01-09						16831	protein-coding gene	gene with protein product		610764				9734811, 9915832	Standard	NM_004758		Approved	PRAX-1, KIAA0612, RIM-BP1, RIMBP1	uc002ivx.5	O95153		ENST00000343736.4:c.4894G>T	17.37:g.56385061C>A	ENSP00000345824:p.Ala1632Ser					BZRAP1_ENST00000268893.6_Missense_Mutation_p.A1572S|BZRAP1_ENST00000343736.4_Missense_Mutation_p.A1632S	p.A1632S	NM_001261835.1|NM_004758.3	NP_001248764.1|NP_004749.2	O95153	RIMB1_HUMAN			24	5764	-	Medulloblastoma(34;0.127)|all_neural(34;0.237)		1632			SH3 2.		O75111|Q8N5W3	Missense_Mutation	SNP	ENST00000343736.4	37	c.4894G>T	CCDS11605.1	.	.	.	.	.	.	.	.	.	.	C	35	5.453169	0.96223	.	.	ENSG00000005379	ENST00000355701;ENST00000343736;ENST00000268893	T;T;T	0.55588	0.51;0.51;0.51	5.79	5.79	0.91817	Src homology-3 domain (3);Variant SH3 (1);	0.000000	0.85682	D	0.000000	T	0.79753	0.4500	M	0.91196	3.185	0.58432	D	0.999991	D;D;D	0.89917	1.0;0.999;0.999	D;D;D	0.91635	0.999;0.997;0.997	D	0.83427	0.0036	10	0.72032	D	0.01	.	19.0299	0.92952	0.0:1.0:0.0:0.0	.	1632;1572;1632	B7ZVZ7;O95153-2;O95153	.;.;RIMB1_HUMAN	S	1632;1632;1572	ENSP00000347929:A1632S;ENSP00000345824:A1632S;ENSP00000268893:A1572S	ENSP00000268893:A1572S	A	-	1	0	BZRAP1	53740060	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	7.296000	0.78790	2.736000	0.93811	0.655000	0.94253	GCT		0.567	BZRAP1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000443980.1	NM_004758		7	64	1	0	1.06961e-07	0.038147	1.29479e-07	7	64					A	56385061	C	A	56385061	3	1	33	1	0	0	0	0	1	0	0	0	1577	739	26	5	711	5	BZRAP1	17	56385061	Missense_Mutation	SNP	C	TCGA-CH-5767-01A-11D-1786-08	18818350	56385061	24810149	42	1653											
CSH1	1442	broad.mit.edu	37	chr17	61972640	61972640	+	Intron	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcactgttccctccctctctCatttatccattttcctccct	4	17	2	18	0	2	0	1	0	1	0	8	0	7	0	5	0	0	2	5	0	1	5			TCGA-CH-5767-01A-11D-1786-08	TCGA-CH-5767-11B-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f07b8ebf-6f30-4011-b595-5571f05c364b	1ff17ff8-6ebe-4775-bc2a-07db1eadb340	g.chr17:61972640C>T	ENST00000316193.8	-	5	598				CSH1_ENST00000453363.3_Intron|CSH1_ENST00000329882.8_Missense_Mutation_p.E217K	NM_001317.5	NP_001308.1	P0DML2	CSH1_HUMAN	chorionic somatomammotropin hormone 1 (placental lactogen)							extracellular region (GO:0005576)	metal ion binding (GO:0046872)			central_nervous_system(1)|large_intestine(1)|lung(4)|prostate(1)|skin(1)	8						CTCCCTCTCTCATTTATCCAT	0.557									Russell-Silver syndrome																													ENST00000329882.8																			0				central_nervous_system(1)|large_intestine(1)|lung(4)|prostate(1)|skin(1)	8						c.(649-651)Gag>Aag		chorionic somatomammotropin hormone 1 (placental lactogen)							82	83	83					17																	61972640		2194	4300	6494	SO:0001627	intron_variant	1442	Russell-Silver syndrome	Familial Cancer Database	Silver-Russell Dwarfism, Silver-Russell syndrome, SRS, Russel-Silver Dwarfism	female pregnancy|signal transduction	extracellular region	hormone activity|metal ion binding	g.chr17:61972640C>T	J00118	CCDS11649.1	17q22-q24	2008-07-18				ENSG00000136488			2440	protein-coding gene	gene with protein product	"chorionic somatomammotropin A", "placental lactogen", "choriomammotropin"	150200				6208192	Standard	NM_001317		Approved	hCS-A, CSA, PL, CSMT, FLJ75407	uc002jcs.2	P0DML2		ENST00000316193.8:c.457-61G>A	17.37:g.61972640C>T						CSH1_ENST00000316193.8_Intron|CSH1_ENST00000453363.3_Intron	p.E217K			P01243	CSH_HUMAN			4	719	-			0					P01243|Q0VDB1|Q14407	Missense_Mutation	SNP	ENST00000316193.8	37	c.649G>A	CCDS11649.1	.	.	.	.	.	.	.	.	.	.	c	14.32	2.500933	0.44455	.	.	ENSG00000136488	ENST00000329882	D	0.88277	-2.36	2.07	1.04	0.20106	.	2.209010	0.02155	N	0.058330	D	0.82797	0.5115	.	.	.	0.09310	N	1	B	0.25486	0.127	B	0.13407	0.009	T	0.68674	-0.5346	9	0.87932	D	0	.	4.489	0.11805	0.0:0.7894:0.0:0.2106	.	217	A6NFB4	.	K	217	ENSP00000333268:E217K	ENSP00000333268:E217K	E	-	1	0	CSH1	59326372	0.002000	0.14202	0.000000	0.03702	0.033000	0.12548	0.705000	0.25675	0.184000	0.20083	0.313000	0.20887	GAG		0.557	CSH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416040.1	NM_001317		47	57	0	0	0	0.048971	0	47	57					T	61972640	C	T	61972640	1	4	33	0	1	0	0	0	0	0	0	0	3940	835	29	3		3	CSH1	17	61972640	Intron	SNP	C	TCGA-CH-5767-01A-11D-1786-08	5587579	61972640	19222570	43	1654											
SIRT7	51547	broad.mit.edu	37	chr17	79873382	79873382	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggctcggcctcgctcaggtcGgcagcactgccaggcagaaa	8	5	14	14	3	1	1	1	0	0	1	4	1	1	1	2	5	2	5	2	5	1	0	rs146448282	byFrequency	TCGA-CH-5767-01A-11D-1786-08	TCGA-CH-5767-11B-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f07b8ebf-6f30-4011-b595-5571f05c364b	1ff17ff8-6ebe-4775-bc2a-07db1eadb340	g.chr17:79873382G>A	ENST00000328666.6	-	5	476	c.414C>T	c.(412-414)gcC>gcT	p.A138A		NM_016538.2	NP_057622.1	Q9NRC8	SIR7_HUMAN	sirtuin 7	138	Deacetylase sirtuin-type. {ECO:0000255|PROSITE-ProRule:PRU00236}.				histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription on exit from mitosis (GO:0007072)|rRNA transcription (GO:0009303)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleolus organizer region (GO:0005731)	chromatin binding (GO:0003682)|metal ion binding (GO:0046872)|NAD+ binding (GO:0070403)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)	p.A138A(2)		breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	13	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.0165)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)			CGCTCAGGTCGGCAGCACTGC	0.652													G|||	3	0.000599042	0.0023	0	5008	,	,		18208	0		0	False		,,,				2504	0					ENST00000328666.6																			2	Substitution - coding silent(2)	p.A138A(2)	prostate(2)	breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	13						c.(412-414)gcC>gcT		sirtuin 7		G		19,4385	26.2+/-53.5	0,19,2183	67	58	61		414	-9.1	0	17	dbSNP_134	61	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	SIRT7	NM_016538.2		0,21,6481	AA,AG,GG		0.0233,0.4314,0.1615		138/401	79873382	21,12983	2202	4300	6502	SO:0001819	synonymous_variant	51547				chromatin silencing|positive regulation of transcription on exit from mitosis|protein deacetylation|rRNA transcription	cytoplasm|nucleolus organizer region	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides|NAD+ binding|protein binding|zinc ion binding	g.chr17:79873382G>A	AF233395	CCDS11792.1	17q25.3	2010-06-25	2010-06-25			ENSG00000187531			14935	protein-coding gene	gene with protein product		606212	"sirtuin (silent mating type information regulation 2, S.cerevisiae, homolog) 7", "sirtuin (silent mating type information regulation 2 homolog) 7 (S. cerevisiae)"			10873683, 16618798	Standard	NM_016538		Approved		uc002kcj.2	Q9NRC8		ENST00000328666.6:c.414C>T	17.37:g.79873382G>A							p.A138A	NM_016538.2	NP_057622.1	Q9NRC8	SIRT7_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0165)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)		5	476	-	all_neural(118;0.0878)|Ovarian(332;0.12)		138			Deacetylase sirtuin-type.		A8K2K0|B3KSU8|Q3MIK4|Q9NSZ6|Q9NUS6	Silent	SNP	ENST00000328666.6	37	c.414C>T	CCDS11792.1																																																																																				0.652	SIRT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439961.1	NM_016538		3	28	0	0	0	0.004672	0	3	28					A	79873382	G	A	79873382	2	1	33	1	0	0	0	0	0	0	0	1	14343	1103	39	2		2	SIRT7	17	79873382	Silent	SNP	G	TCGA-CH-5767-01A-11D-1786-08	17900742	79873382	1321828	44	1655											
PIP5K1C	23396	broad.mit.edu	37	chr19	3651957	3651957	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggcgccctgcgcctgccgctCgcgctcgtgctggtcgatgt	1	9	15	16	7	0	0	0	0	0	0	3	1	0	0	3	2	3	3	3	2	0	0			TCGA-CH-5767-01A-11D-1786-08	TCGA-CH-5767-11B-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f07b8ebf-6f30-4011-b595-5571f05c364b	1ff17ff8-6ebe-4775-bc2a-07db1eadb340	g.chr19:3651957C>T	ENST00000335312.3	-	8	1082	c.994G>A	c.(994-996)Gag>Aag	p.E332K	PIP5K1C_ENST00000589578.1_Missense_Mutation_p.E332K|PIP5K1C_ENST00000539785.1_Missense_Mutation_p.E332K|PIP5K1C_ENST00000537021.1_Missense_Mutation_p.E332K|PIP5K1C_ENST00000587482.1_5'UTR	NM_001195733.1|NM_012398.2	NP_001182662.1|NP_036530.1	O60331	PI51C_HUMAN	phosphatidylinositol-4-phosphate 5-kinase, type I, gamma	332	PIPK. {ECO:0000255|PROSITE- ProRule:PRU00781}.				actin cytoskeleton organization (GO:0030036)|adherens junction assembly (GO:0034333)|axon guidance (GO:0007411)|clathrin-mediated endocytosis (GO:0072583)|cytoskeletal anchoring at plasma membrane (GO:0007016)|neutrophil chemotaxis (GO:0030593)|phagocytosis (GO:0006909)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|platelet aggregation (GO:0070527)|single organismal cell-cell adhesion (GO:0016337)|small molecule metabolic process (GO:0044281)|synaptic vesicle endocytosis (GO:0048488)|synaptic vesicle exocytosis (GO:0016079)	cytosol (GO:0005829)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|uropod (GO:0001931)	1-phosphatidylinositol-4-phosphate 5-kinase activity (GO:0016308)|ATP binding (GO:0005524)	p.E332K(1)		large_intestine(3)|ovary(1)|skin(3)|stomach(2)	9		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.95e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0026)|STAD - Stomach adenocarcinoma(1328;0.183)		GCCTGCCGCTCGCGCTCGTGC	0.652																																					Esophageal Squamous(135;99 1744 12852 27186 39851)	ENST00000335312.3																			1	Substitution - Missense(1)	p.E332K(1)	prostate(1)	large_intestine(3)|ovary(1)|skin(3)|stomach(2)	9						c.(994-996)Gag>Aag		phosphatidylinositol-4-phosphate 5-kinase, type I, gamma							37	38	38					19																	3651957		2200	4295	6495	SO:0001583	missense	23396				axon guidance	cytosol|plasma membrane	1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding	g.chr19:3651957C>T	AB011161	CCDS32872.1, CCDS56074.1, CCDS74257.1	19p13.3	2012-10-02			ENSG00000186111	ENSG00000186111			8996	protein-coding gene	gene with protein product		606102				9535851	Standard	NM_001195733		Approved	PIP5Kgamma, KIAA0589, LCCS3	uc002lyj.2	O60331	OTTHUMG00000180870	ENST00000335312.3:c.994G>A	19.37:g.3651957C>T	ENSP00000335333:p.Glu332Lys					PIP5K1C_ENST00000589578.1_Missense_Mutation_p.E332K|PIP5K1C_ENST00000539785.1_Missense_Mutation_p.E332K|PIP5K1C_ENST00000537021.1_Missense_Mutation_p.E332K|PIP5K1C_ENST00000587482.1_5'UTR	p.E332K	NM_001195733.1|NM_012398.2	NP_001182662.1|NP_036530.1	O60331	PI51C_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.95e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0026)|STAD - Stomach adenocarcinoma(1328;0.183)	8	1082	-		Hepatocellular(1079;0.137)	332			PIPK.		B7Z9E7|C6GIJ7|C6GIJ8|Q7LE07	Missense_Mutation	SNP	ENST00000335312.3	37	c.994G>A	CCDS32872.1	.	.	.	.	.	.	.	.	.	.	C	14.98	2.696993	0.48202	.	.	ENSG00000186111	ENST00000335312;ENST00000539785;ENST00000537021	T;T;T	0.32753	1.44;1.44;1.44	4.37	2.18	0.27775	Phosphatidylinositol-4-phosphate 5-kinase, core (2);Phosphatidylinositol-4-phosphate 5-kinase, core, subgroup (1);	0.000000	0.85682	D	0.000000	T	0.32164	0.0820	M	0.73962	2.25	0.48830	D	0.999713	P;P	0.47253	0.868;0.892	B;B	0.41571	0.245;0.36	T	0.10989	-1.0606	10	0.62326	D	0.03	-28.4608	8.4575	0.32908	0.0:0.7573:0.1555:0.0872	.	332;332	O60331-3;O60331	.;PI51C_HUMAN	K	332	ENSP00000335333:E332K;ENSP00000445992:E332K;ENSP00000444779:E332K	ENSP00000335333:E332K	E	-	1	0	PIP5K1C	3602957	1.000000	0.71417	0.556000	0.28293	0.349000	0.29174	6.010000	0.70753	0.283000	0.22279	-0.339000	0.08088	GAG		0.652	PIP5K1C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000453432.2	NM_012398		15	37	0	0	0	0.038395	0	15	37					T	3651957	C	T	3651957	3	4	33	1	0	0	0	0	1	0	0	0	11941	893	31	2	1056	2	PIP5K1C	19	3651957	Missense_Mutation	SNP	C	TCGA-CH-5767-01A-11D-1786-08		3651957	55477026	45	1656											
UHRF1	29128	broad.mit.edu	37	chr19	4950688	4950688	+	RNA	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggccgaggccaaggactggcGgtcggggaagccggtcaggg	7	3	21	10	4	1	0	1	0	0	0	2	3	1	2	3	9	1	0	3	9	2	0	rs377699288		TCGA-CH-5767-01A-11D-1786-08	TCGA-CH-5767-11B-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f07b8ebf-6f30-4011-b595-5571f05c364b	1ff17ff8-6ebe-4775-bc2a-07db1eadb340	g.chr19:4950688G>A	ENST00000592666.1	+	0	2159							Q96T88	UHRF1_HUMAN	ubiquitin-like with PHD and ring finger domains 1						cell cycle (GO:0007049)|cell proliferation (GO:0008283)|DNA repair (GO:0006281)|histone monoubiquitination (GO:0010390)|histone ubiquitination (GO:0016574)|maintenance of DNA methylation (GO:0010216)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of DNA topoisomerase (ATP-hydrolyzing) activity (GO:2000373)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein autoubiquitination (GO:0051865)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|transcription, DNA-templated (GO:0006351)	euchromatin (GO:0000791)|heterochromatin (GO:0000792)|nuclear chromatin (GO:0000790)|nuclear heterochromatin (GO:0005720)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)|replication fork (GO:0005657)	core promoter proximal region sequence-specific DNA binding (GO:0000987)|hemi-methylated DNA-binding (GO:0044729)|histone binding (GO:0042393)|identical protein binding (GO:0042802)|ligase activity (GO:0016874)|methyl-CpG binding (GO:0008327)|methylated histone binding (GO:0035064)|nucleosomal histone binding (GO:0031493)|sequence-specific DNA binding transcription factor activity (GO:0003700)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.R541Q(2)		breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|upper_aerodigestive_tract(2)	16				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0276)		AAGGACTGGCGGTCGGGGAAG	0.607																																						ENST00000592666.1																			2	Substitution - Missense(2)	p.R541Q(2)	prostate(2)	breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|upper_aerodigestive_tract(2)	16								ubiquitin-like with PHD and ring finger domains 1		G	GLN/ARG,GLN/ARG	0,3872		0,0,1936	20	25	24		1583,1622	4.8	0.9	19		24	1,8195		0,1,4097	no	missense,missense	UHRF1	NM_001048201.1,NM_013282.3	43,43	0,1,6033	AA,AG,GG		0.0122,0.0,0.0083	probably-damaging,probably-damaging	528/794,541/807	4950688	1,12067	1936	4098	6034			29128				cell cycle|cell proliferation|DNA repair|regulation of transcription from RNA polymerase II promoter	nucleus	acid-amino acid ligase activity|methyl-CpG binding|methylated histone residue binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:4950688G>A	AF129507	CCDS74262.1, CCDS74263.1	19p13.3	2012-04-20	2008-08-14		ENSG00000034063	ENSG00000276043		"RING-type (C3HC4) zinc fingers"	12556	protein-coding gene	gene with protein product		607990				10646863	Standard	NM_001048201		Approved	ICBP90, Np95, FLJ21925, RNF106	uc002mbo.3	Q96T88			19.37:g.4950688G>A										Q96T88	UHRF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0276)	0	2159	+								A0JBR2|A8K024|B2RBA9|Q2HIX7|Q8J022|Q9H6S6|Q9P115|Q9P1U7	RNA	SNP	ENST00000592666.1	37			.	.	.	.	.	.	.	.	.	.	G	20.6	4.025035	0.75390	0.0	1.22E-4	ENSG00000034063	ENST00000262952;ENST00000396708;ENST00000455180;ENST00000543616;ENST00000398240	.	.	.	4.84	4.84	0.62591	SRA-YDG (4);	0.056632	0.64402	D	0.000002	T	0.75133	0.3808	L	0.49640	1.575	0.43000	D	0.994518	D;D	0.89917	1.0;0.987	D;P	0.85130	0.997;0.524	T	0.76170	-0.3057	8	0.49607	T	0.09	-27.198	17.9546	0.89064	0.0:0.0:1.0:0.0	.	541;528	Q2HIX7;Q96T88	.;UHRF1_HUMAN	Q	528;143;528;528;541	.	ENSP00000262952:R528Q	R	+	2	0	UHRF1	4901688	1.000000	0.71417	0.886000	0.34754	0.920000	0.55202	5.265000	0.65519	2.248000	0.74166	0.555000	0.69702	CGG		0.607	UHRF1-006	KNOWN	sequence_error|basic	processed_transcript	processed_transcript	OTTHUMT00000450444.1	NM_001048201		22	30	0	0	0	0.062417	0	22	30					A	4950688	G	A	4950688	1	1	33	0	1	0	0	0	0	0	0	0	16964	1116	39	2		2	UHRF1	19	4950688	RNA	SNP	G	TCGA-CH-5767-01A-11D-1786-08	1298731	4950688	54178295	46	1657											
HNRNPL	3191	broad.mit.edu	37	chr19	39334540	39334540	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctgatcattcttgaacacAttcaagcgtgtaggctgcaa	11	12	8	10	1	3	2	2	2	1	0	4	2	4	2	1	1	3	3	1	1	4	4			TCGA-CH-5767-01A-11D-1786-08	TCGA-CH-5767-11B-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f07b8ebf-6f30-4011-b595-5571f05c364b	1ff17ff8-6ebe-4775-bc2a-07db1eadb340	g.chr19:39334540A>G	ENST00000221419.5	-	6	1188	c.822T>C	c.(820-822)aaT>aaC	p.N274N	HNRNPL_ENST00000600873.1_Silent_p.N141N|AC008982.2_ENST00000600473.1_RNA	NM_001533.2	NP_001524.2	P14866	HNRPL_HUMAN	heterogeneous nuclear ribonucleoprotein L	274					gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|pronucleus (GO:0045120)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|transcription regulatory region DNA binding (GO:0044212)	p.N274N(1)|p.N141N(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	30	all_cancers(60;6.83e-06)|Ovarian(47;0.0454)		Lung(45;0.00342)|LUSC - Lung squamous cell carcinoma(53;0.00575)			TCTTGAACACATTCAAGCGTG	0.507																																						ENST00000221419.5																			2	Substitution - coding silent(2)	p.N274N(1)|p.N141N(1)	prostate(2)	NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	30						c.(820-822)aaT>aaC		heterogeneous nuclear ribonucleoprotein L							161	135	144					19																	39334540		2203	4300	6503	SO:0001819	synonymous_variant	3191				nuclear mRNA splicing, via spliceosome	cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|RNA binding|transcription regulatory region DNA binding	g.chr19:39334540A>G	X16135	CCDS33015.1, CCDS33016.1	19q13.2	2013-06-12		2007-08-16	ENSG00000104824	ENSG00000104824		"RNA binding motif (RRM) containing"	5045	protein-coding gene	gene with protein product		603083		HNRPL		2687284	Standard	NM_001533		Approved		uc021uuh.1	P14866	OTTHUMG00000182612	ENST00000221419.5:c.822T>C	19.37:g.39334540A>G						HNRNPL_ENST00000600873.1_Silent_p.N141N	p.N274N	NM_001533.2	NP_001524.2	P14866	HNRPL_HUMAN	Lung(45;0.00342)|LUSC - Lung squamous cell carcinoma(53;0.00575)		6	1188	-	all_cancers(60;6.83e-06)|Ovarian(47;0.0454)		274					A6ND69|A6NIT8|Q9H3P3	Silent	SNP	ENST00000221419.5	37	c.822T>C	CCDS33015.1																																																																																				0.507	HNRNPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462670.1			31	60	0	0	0	0.045705	0	31	60					G	39334540	A	G	39334540	2	3	33	1	0	0	0	0	0	0	0	1	7270	214	8	4		4	HNRNPL	19	39334540	Silent	SNP	A	TCGA-CH-5767-01A-11D-1786-08	34383852	39334540	19794443	47	1658											
PSG2	5670	broad.mit.edu	37	chr19	43585093	43585093	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccatcacctcgctttatgaTgtgtaaggtgtaggatcctg	8	13	10	10	1	1	1	1	1	0	0	3	2	2	2	3	2	0	3	3	2	3	4			TCGA-CH-5767-01A-11D-1786-08	TCGA-CH-5767-11B-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f07b8ebf-6f30-4011-b595-5571f05c364b	1ff17ff8-6ebe-4775-bc2a-07db1eadb340	g.chr19:43585093T>C	ENST00000406487.1	-	2	468	c.370A>G	c.(370-372)Atc>Gtc	p.I124V	PSG2_ENST00000491995.1_5'Flank	NM_031246.3	NP_112536.2	P11465	PSG2_HUMAN	pregnancy specific beta-1-glycoprotein 2	124	Ig-like V-type.				cell migration (GO:0016477)|female pregnancy (GO:0007565)	extracellular region (GO:0005576)		p.I124V(2)		central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(24)|ovary(1)|pancreas(2)|prostate(6)|stomach(2)|urinary_tract(2)	49		Prostate(69;0.00682)				CGCTTTATGATGTGTAAGGTG	0.493																																						ENST00000406487.1																			2	Substitution - Missense(2)	p.I124V(2)	prostate(2)	central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(24)|ovary(1)|pancreas(2)|prostate(6)|stomach(2)|urinary_tract(2)	49						c.(370-372)Atc>Gtc		pregnancy specific beta-1-glycoprotein 2							113	113	113					19																	43585093		2200	4279	6479	SO:0001583	missense	5670				cell migration|female pregnancy	extracellular region		g.chr19:43585093T>C		CCDS12616.1	19q13.1-q13.2	2013-01-29			ENSG00000242221	ENSG00000242221		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	9519	protein-coding gene	gene with protein product	"pregnancy-specific beta-1 glycoprotein", "pregnancy-specific beta-1-glycoprotein 7", "carcinoembryonic antigen SG8"	176391		PSBG2		2377620	Standard	NM_031246		Approved	PSGGB, PSG1, CEA	uc002ovr.3	P11465	OTTHUMG00000151547	ENST00000406487.1:c.370A>G	19.37:g.43585093T>C	ENSP00000385706:p.Ile124Val						p.I124V	NM_031246.3	NP_112536.2	P11465	PSG2_HUMAN			2	468	-		Prostate(69;0.00682)	124			Ig-like V-type.		Q8TCD9|Q9UEA4|Q9UQ78	Missense_Mutation	SNP	ENST00000406487.1	37	c.370A>G	CCDS12616.1	.	.	.	.	.	.	.	.	.	.	N	0.043	-1.278132	0.01410	.	.	ENSG00000242221	ENST00000406487;ENST00000329509;ENST00000401942;ENST00000406917	T	0.62788	0.0	0.569	-0.842	0.10748	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.47930	0.1472	L	0.35249	1.045	0.09310	N	1	B;P	0.35107	0.173;0.484	B;B	0.42916	0.177;0.402	T	0.40869	-0.9540	8	0.10111	T	0.7	.	.	.	.	.	124;124	B5MCM8;P11465	.;PSG2_HUMAN	V	124	ENSP00000385706:I124V	ENSP00000332984:I124V	I	-	1	0	PSG2	48276933	0.000000	0.05858	0.001000	0.08648	0.003000	0.03518	-1.437000	0.02419	-0.424000	0.07382	0.155000	0.16302	ATC		0.493	PSG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323083.1	NM_031246		16	160	0	0	0	0.030593	0	16	160					C	43585093	T	C	43585093	3	2	33	1	0	0	0	0	1	0	0	0	12655	1464	51	4	653	4	PSG2	19	43585093	Missense_Mutation	SNP	T	TCGA-CH-5767-01A-11D-1786-08	4250553	43585093	15543890	48	1659											
SIGLEC5	8778	broad.mit.edu	37	chr19	52130800	52130800	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggtcggagctgagccccccGtggaggatcagggagctgtt	7	7	17	10	2	1	1	1	1	0	0	2	5	1	5	3	5	3	3	3	5	0	1			TCGA-CH-5767-01A-11D-1786-08	TCGA-CH-5767-11B-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f07b8ebf-6f30-4011-b595-5571f05c364b	1ff17ff8-6ebe-4775-bc2a-07db1eadb340	g.chr19:52130800G>A	ENST00000534261.2	-	7	1596	c.1197C>T	c.(1195-1197)caC>caT	p.H399H	SIGLEC5_ENST00000599649.1_Silent_p.H399H|SIGLEC5_ENST00000429354.3_Silent_p.H399H|SIGLEC5_ENST00000222107.4_Silent_p.H399H|SIGLEC5_ENST00000570106.2_Silent_p.H399H			O15389	SIGL5_HUMAN	sialic acid binding Ig-like lectin 5	399					cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)	p.H399H(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|large_intestine(4)|lung(9)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27		all_neural(266;0.0726)		GBM - Glioblastoma multiforme(134;0.00124)|OV - Ovarian serous cystadenocarcinoma(262;0.0218)		TGAGCCCCCCGTGGAGGATCA	0.627																																						ENST00000222107.4																			1	Substitution - coding silent(1)	p.H399H(1)	prostate(1)	NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|large_intestine(4)|lung(9)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27						c.(1195-1197)caC>caT		sialic acid binding Ig-like lectin 5							53	51	52					19																	52130800		2203	4300	6503	SO:0001819	synonymous_variant	8778				cell adhesion	integral to membrane	sugar binding	g.chr19:52130800G>A	U71383	CCDS33088.1	19q13.41	2013-01-29			ENSG00000105501	ENSG00000105501		"Sialic acid binding Ig-like lectins", "CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	10874	protein-coding gene	gene with protein product		604200		CD33L2		10343116	Standard	NM_003830		Approved	OB-BP2, SIGLEC-5, CD170	uc002pxe.4	O15389	OTTHUMG00000165510	ENST00000534261.2:c.1197C>T	19.37:g.52130800G>A						SIGLEC5_ENST00000570106.2_Silent_p.H399H|SIGLEC5_ENST00000429354.3_Silent_p.H399H|SIGLEC5_ENST00000534261.2_Silent_p.H399H|SIGLEC5_ENST00000599649.1_Silent_p.H399H	p.H399H			O15389	SIGL5_HUMAN		GBM - Glioblastoma multiforme(134;0.00124)|OV - Ovarian serous cystadenocarcinoma(262;0.0218)	6	1335	-		all_neural(266;0.0726)	399						Silent	SNP	ENST00000534261.2	37	c.1197C>T	CCDS33088.1																																																																																				0.627	SIGLEC5-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466897.2	NM_003830		20	39	0	0	0	0.062417	0	20	39					A	52130800	G	A	52130800	2	1	33	1	0	0	0	0	0	0	0	1	14311	1136	40	1		1	SIGLEC5	19	52130800	Silent	SNP	G	TCGA-CH-5767-01A-11D-1786-08	8545707	52130800	6998183	49	1660											
CHD6	84181	broad.mit.edu	37	chr20	40118655	40118656	+	Frame_Shift_Ins	INS	-	-	T																															tctcatcagccaaaatacagINSttttttctgcagagagtgag																										TCGA-CH-5767-01A-11D-1786-08	TCGA-CH-5767-11B-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f07b8ebf-6f30-4011-b595-5571f05c364b	1ff17ff8-6ebe-4775-bc2a-07db1eadb340	g.chr20:40118655_40118656insT	ENST00000373233.3	-	12	1619_1620	c.1442_1443insA	c.(1441-1443)aacfs	p.N481fs	CHD6_ENST00000309279.7_Frame_Shift_Ins_p.N481fs	NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	481	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.|Required for DNA-dependent ATPase activity.				ATP catabolic process (GO:0006200)|chromatin modification (GO:0016568)|positive regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0036091)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|transcription cofactor binding (GO:0001221)			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				CCAAAATACAGTTTTTTCTGCA	0.376																																						ENST00000373233.3																			0				breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129						c.(1441-1443)atgfs		chromodomain helicase DNA binding protein 6																																				SO:0001589	frameshift_variant	0				chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding	g.chr20:40118655_40118656insT	AF525085	CCDS13317.1	20q12	2003-03-07			ENSG00000124177	ENSG00000124177			19057	protein-coding gene	gene with protein product						11889561	Standard	NM_032221		Approved	KIAA1335, FLJ22369, dJ620E11.1, CHD5, RIGB	uc002xka.1	Q8TD26	OTTHUMG00000032487	ENST00000373233.3:c.1443dupA	20.37:g.40118661_40118661dupT	ENSP00000362330:p.Asn481fs					CHD6_ENST00000309279.7_Frame_Shift_Ins_p.M481fs	p.M481fs	NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN			12	1619_1620	-		Myeloproliferative disorder(115;0.00425)	481			Helicase ATP-binding.		Q5JYQ0|Q5TGZ9|Q5TH00|Q5TH01|Q8IZR2|Q8WTY0|Q9H4H6|Q9H6D4|Q9NTT7|Q9P2L1	Frame_Shift_Ins	INS	ENST00000373233.3	37	c.1442_1443insA	CCDS13317.1																																																																																				0.376	CHD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079270.1			73	126						73	126	---	---	---	---	T	40118656	-	T	40118655	7	5	33	1	0	1	1	0	0	0	0	0	3329	1020	36	0	6808	0	CHD6	20	40118655	Frame_Shift_Ins	INS	-	TCGA-CH-5767-01A-11D-1786-08		40118655	22906865	50	1661											
TSHZ2	128553	broad.mit.edu	37	chr20	51870363	51870363	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aacgaagcacacaattgcatGgataaaatgaccgctgtcta	16	8	8	9	2	1	1	0	1	1	0	1	3	1	2	1	1	3	3	1	1	6	3			TCGA-CH-5767-01A-11D-1786-08	TCGA-CH-5767-11B-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f07b8ebf-6f30-4011-b595-5571f05c364b	1ff17ff8-6ebe-4775-bc2a-07db1eadb340	g.chr20:51870363G>A	ENST00000371497.5	+	2	1253	c.366G>A	c.(364-366)atG>atA	p.M122I	TSHZ2_ENST00000329613.6_Missense_Mutation_p.M119I|TSHZ2_ENST00000603338.2_Missense_Mutation_p.M119I|RP4-678D15.1_ENST00000606932.1_RNA	NM_001193421.1|NM_173485.5	NP_001180350.1|NP_775756.3	Q9NRE2	TSH2_HUMAN	teashirt zinc finger homeobox 2	122					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.M122I(2)		NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84			STAD - Stomach adenocarcinoma(23;0.1)			ACAATTGCATGGATAAAATGA	0.522																																						ENST00000371497.5																			2	Substitution - Missense(2)	p.M122I(2)	prostate(2)	NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84						c.(364-366)atG>atA		teashirt zinc finger homeobox 2							82	71	74					20																	51870363		2203	4300	6503	SO:0001583	missense	128553				multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr20:51870363G>A	AF230201	CCDS33490.1, CCDS54474.1	20q13.2	2013-11-20	2007-07-16	2006-03-14	ENSG00000182463	ENSG00000182463		"Teashirt zinc fingers", "Homeoboxes / ZF class", "Zinc fingers, C2H2-type"	13010	protein-coding gene	gene with protein product		614118	"chromosome 20 open reading frame 17", "zinc finger protein 218", "teashirt family zinc finger 2"	C20orf17, ZNF218		9671742	Standard	NM_173485		Approved	ZABC2, OVC10-2, TSH2	uc021wex.1	Q9NRE2	OTTHUMG00000033058	ENST00000371497.5:c.366G>A	20.37:g.51870363G>A	ENSP00000360552:p.Met122Ile					TSHZ2_ENST00000329613.6_Missense_Mutation_p.M119I|TSHZ2_ENST00000603338.2_Missense_Mutation_p.M119I	p.M122I	NM_001193421.1|NM_173485.5	NP_001180350.1|NP_775756.3	Q9NRE2	TSH2_HUMAN	STAD - Stomach adenocarcinoma(23;0.1)		2	1253	+			122					B7Z7W1|J3KNQ0|Q4VXM4|Q6N003|Q8N260	Missense_Mutation	SNP	ENST00000371497.5	37	c.366G>A	CCDS33490.1	.	.	.	.	.	.	.	.	.	.	G	15.02	2.709961	0.48517	.	.	ENSG00000182463	ENST00000371497;ENST00000329613	T;T	0.13307	2.6;2.6	5.7	5.7	0.88788	.	0.042170	0.85682	D	0.000000	T	0.16342	0.0393	L	0.51422	1.61	0.58432	D	0.999994	P	0.35844	0.524	B	0.28849	0.095	T	0.01557	-1.1325	10	0.66056	D	0.02	-24.213	19.8272	0.96622	0.0:0.0:1.0:0.0	.	122	Q9NRE2	TSH2_HUMAN	I	122;119	ENSP00000360552:M122I;ENSP00000333114:M119I	ENSP00000333114:M119I	M	+	3	0	TSHZ2	51303770	1.000000	0.71417	1.000000	0.80357	0.641000	0.38312	5.328000	0.65887	2.685000	0.91497	0.643000	0.83706	ATG		0.522	TSHZ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080398.6	NM_173485		24	32	0	0	0	0.069288	0	24	32					A	51870363	G	A	51870363	3	1	33	1	0	0	0	0	1	0	0	0	16621	1348	47	3	372	3	TSHZ2	20	51870363	Missense_Mutation	SNP	G	TCGA-CH-5767-01A-11D-1786-08	11751708	51870363	11155157	51	1662											
CCT8L2	150160	broad.mit.edu	37	chr22	17072407	17072407	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tgtaaaccctctggcacttgCctggcctctggggagggagc	6	9	14	12	0	2	0	0	0	2	0	2	2	2	2	3	5	3	2	3	5	2	2			TCGA-CH-5767-01A-11D-1786-08	TCGA-CH-5767-11B-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f07b8ebf-6f30-4011-b595-5571f05c364b	1ff17ff8-6ebe-4775-bc2a-07db1eadb340	g.chr22:17072407C>T	ENST00000359963.3	-	1	1293	c.1034G>A	c.(1033-1035)gGc>gAc	p.G345D		NM_014406.4	NP_055221.1	Q96SF2	TCPQM_HUMAN	chaperonin containing TCP1, subunit 8 (theta)-like 2	345					anion transport (GO:0006820)|cellular protein metabolic process (GO:0044267)|potassium ion transmembrane transport (GO:0071805)|transport (GO:0006810)	cytoplasm (GO:0005737)	anion channel activity (GO:0005253)|ATP binding (GO:0005524)|calcium-activated potassium channel activity (GO:0015269)	p.G345A(1)|p.G345D(1)		breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1)	67	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				CTGGCACTTGCCTGGCCTCTG	0.547																																						ENST00000359963.3																			2	Substitution - Missense(2)	p.G345A(1)|p.G345D(1)	prostate(1)|liver(1)	breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1)	67						c.(1033-1035)gGc>gAc		chaperonin containing TCP1, subunit 8 (theta)-like 2							95	95	95					22																	17072407		2203	4300	6503	SO:0001583	missense	150160				cellular protein metabolic process	cytoplasm	anion channel activity|ATP binding|calcium-activated potassium channel activity	g.chr22:17072407C>T	AP003553	CCDS13738.1	22q11.1	2011-09-01			ENSG00000198445	ENSG00000198445			15553	protein-coding gene	gene with protein product							Standard	NM_014406		Approved	CESK1	uc002zlp.1	Q96SF2	OTTHUMG00000141302	ENST00000359963.3:c.1034G>A	22.37:g.17072407C>T	ENSP00000353048:p.Gly345Asp						p.G345D	NM_014406.4	NP_055221.1	Q96SF2	TCPQM_HUMAN			1	1293	-	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)	345					A4QPH3|Q9UJS3	Missense_Mutation	SNP	ENST00000359963.3	37	c.1034G>A	CCDS13738.1	.	.	.	.	.	.	.	.	.	.	c	10.37	1.330931	0.24167	.	.	ENSG00000198445	ENST00000359963	D	0.94758	-3.51	1.98	1.98	0.26296	.	0.000000	0.40222	U	0.001148	D	0.96386	0.8821	M	0.83774	2.66	0.38063	D	0.936125	D	0.89917	1.0	D	0.97110	1.0	D	0.95842	0.8867	10	0.87932	D	0	-25.166	7.4423	0.27190	0.0:1.0:0.0:0.0	.	345	Q96SF2	TCPQM_HUMAN	D	345	ENSP00000353048:G345D	ENSP00000353048:G345D	G	-	2	0	CCT8L2	15452407	0.070000	0.21116	0.775000	0.31657	0.086000	0.17979	2.959000	0.49153	1.115000	0.41800	0.379000	0.24179	GGC		0.547	CCT8L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280580.1			4	137	0	0	0	0.021553	0	4	137					T	17072407	C	T	17072407	3	4	33	1	0	0	0	0	1	0	0	0	2961	739	26	3	643	3	CCT8L2	22	17072407	Missense_Mutation	SNP	C	TCGA-CH-5767-01A-11D-1786-08		17072407	34232159	52	1663											
SLC7A4	6545	broad.mit.edu	37	chr22	21384286	21384286	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ggacggaggcgtgtacagtgCccaccagctgtaggtggtct	7	8	16	10	2	1	0	0	0	1	0	1	2	1	2	2	5	3	3	2	5	2	2			TCGA-CH-5767-01A-11D-1786-08	TCGA-CH-5767-11B-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f07b8ebf-6f30-4011-b595-5571f05c364b	1ff17ff8-6ebe-4775-bc2a-07db1eadb340	g.chr22:21384286C>T	ENST00000382932.2	-	3	1404	c.1337G>A	c.(1336-1338)gGc>gAc	p.G446D	SLC7A4_ENST00000403586.1_Missense_Mutation_p.G446D|AC002472.11_ENST00000450652.1_RNA	NM_004173.2	NP_004164.2	O43246	CTR4_HUMAN	solute carrier family 7, member 4	446					basic amino acid transport (GO:0015802)|cellular amino acid metabolic process (GO:0006520)|transport (GO:0006810)	integral component of membrane (GO:0016021)	basic amino acid transmembrane transporter activity (GO:0015174)	p.G446D(1)		breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(7)|ovary(1)|prostate(2)	18	all_cancers(11;2.85e-22)|Lung NSC(8;4.21e-14)|all_lung(8;6.08e-13)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0968)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)		L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)	GTGTACAGTGCCCACCAGCTG	0.657																																						ENST00000382932.2																			1	Substitution - Missense(1)	p.G446D(1)	prostate(1)	breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(7)|ovary(1)|prostate(2)	18						c.(1336-1338)gGc>gAc		solute carrier family 7, member 4	L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)						32	31	31					22																	21384286		2203	4300	6503	SO:0001583	missense	6545				cellular amino acid metabolic process	integral to membrane	basic amino acid transmembrane transporter activity	g.chr22:21384286C>T	AJ000730	CCDS33608.1	22q11.21	2013-07-19	2013-07-19		ENSG00000099960	ENSG00000099960		"Solute carriers"	11062	protein-coding gene	gene with protein product		603752	"solute carrier family 7 (cationic amino acid transporter, y+ system), member 4", "solute carrier family 7 (orphan transporter), member 4"			9598310, 11665818	Standard	NM_004173		Approved	HCAT3, CAT-4, VH	uc002zud.3	O43246	OTTHUMG00000150896	ENST00000382932.2:c.1337G>A	22.37:g.21384286C>T	ENSP00000372390:p.Gly446Asp					SLC7A4_ENST00000403586.1_Missense_Mutation_p.G446D	p.G446D	NM_004173.2	NP_004164.2	O43246	CTR4_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)		3	1404	-	all_cancers(11;2.85e-22)|Lung NSC(8;4.21e-14)|all_lung(8;6.08e-13)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0968)	Lung SC(17;0.0262)	446					Q0P5U2|Q3KNQ6|Q4VC45|Q6IBY8|Q96H88	Missense_Mutation	SNP	ENST00000382932.2	37	c.1337G>A	CCDS33608.1	.	.	.	.	.	.	.	.	.	.	C	5.820	0.335588	0.11013	.	.	ENSG00000099960	ENST00000403586;ENST00000382932	D;D	0.85258	-1.96;-1.96	5.37	-4.25	0.03766	.	0.728890	0.11821	N	0.526167	T	0.77267	0.4105	L	0.54323	1.7	0.21822	N	0.999528	B	0.02656	0.0	B	0.06405	0.002	T	0.60156	-0.7318	10	0.14252	T	0.57	.	12.1782	0.54198	0.0:0.3039:0.0:0.6961	.	446	O43246	CTR4_HUMAN	D	446	ENSP00000384278:G446D;ENSP00000372390:G446D	ENSP00000372390:G446D	G	-	2	0	SLC7A4	19714286	0.004000	0.15560	0.005000	0.12908	0.047000	0.14425	-0.021000	0.12504	-0.570000	0.06022	-0.224000	0.12420	GGC		0.657	SLC7A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320467.1	NM_004173		6	19	0	0	0	0.021553	0	6	19					T	21384286	C	T	21384286	3	4	33	1	0	0	0	0	1	0	0	0	14699	739	26	3	582	3	SLC7A4	22	21384286	Missense_Mutation	SNP	C	TCGA-CH-5767-01A-11D-1786-08	4311879	21384286	29920280	53	1664											
MTOR	2475	broad.mit.edu	37	chr1	11188164	11188164	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggtagacttagaagccactGtcagtgggtagatgagggcc	10	9	15	7	0	1	4	1	1	0	3	1	4	1	4	2	3	1	2	2	3	4	3	rs587777893		TCGA-CH-5768-01A-11D-1576-08	TCGA-CH-5768-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2aa9195-5cd4-4032-941e-90a1f724382c	5b3c1e73-475c-4b3b-a49a-0f11810c5223	g.chr1:11188164G>C	ENST00000361445.4	-	43	6006	c.5930C>G	c.(5929-5931)aCa>aGa	p.T1977R	MTOR_ENST00000376838.1_Missense_Mutation_p.T182R	NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN	mechanistic target of rapamycin (serine/threonine kinase)	1977	FAT. {ECO:0000255|PROSITE- ProRule:PRU00534}.				cell growth (GO:0016049)|cellular response to hypoxia (GO:0071456)|cellular response to nutrient levels (GO:0031669)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|germ cell development (GO:0007281)|growth (GO:0040007)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|negative regulation of autophagy (GO:0010507)|negative regulation of cell size (GO:0045792)|negative regulation of macroautophagy (GO:0016242)|negative regulation of NFAT protein import into nucleus (GO:0051534)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|phosphatidylinositol-mediated signaling (GO:0048015)|phosphorylation (GO:0016310)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of gene expression (GO:0010628)|positive regulation of lamellipodium assembly (GO:0010592)|positive regulation of lipid biosynthetic process (GO:0046889)|positive regulation of myotube differentiation (GO:0010831)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein catabolic process (GO:0030163)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of carbohydrate utilization (GO:0043610)|regulation of fatty acid beta-oxidation (GO:0031998)|regulation of glycogen biosynthetic process (GO:0005979)|regulation of protein kinase activity (GO:0045859)|regulation of Rac GTPase activity (GO:0032314)|regulation of response to food (GO:0032095)|response to amino acid (GO:0043200)|response to nutrient (GO:0007584)|response to stress (GO:0006950)|ruffle organization (GO:0031529)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endomembrane system (GO:0012505)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|phosphatidylinositol 3-kinase complex (GO:0005942)|PML body (GO:0016605)|TORC1 complex (GO:0031931)|TORC2 complex (GO:0031932)	ATP binding (GO:0005524)|drug binding (GO:0008144)|kinase activity (GO:0016301)|phosphoprotein binding (GO:0051219)|protein serine/threonine kinase activity (GO:0004674)|ribosome binding (GO:0043022)|RNA polymerase III type 1 promoter DNA binding (GO:0001030)|RNA polymerase III type 2 promoter DNA binding (GO:0001031)|RNA polymerase III type 3 promoter DNA binding (GO:0001032)|TFIIIC-class transcription factor binding (GO:0001156)	p.T1977R(2)|p.T1977K(1)		breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149					Everolimus(DB01590)|Pimecrolimus(DB00337)|Sirolimus(DB00877)|Temsirolimus(DB06287)	AGAAGCCACTGTCAGTGGGTA	0.478																																						ENST00000361445.4																			3	Substitution - Missense(3)	p.T1977R(2)|p.T1977K(1)	kidney(2)|prostate(1)	breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149						c.(5929-5931)aCa>aGa		mechanistic target of rapamycin (serine/threonine kinase)							117	121	120					1																	11188164		2203	4300	6503	SO:0001583	missense	2475				cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient|T cell costimulation|TOR signaling cascade	endoplasmic reticulum membrane|Golgi membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex|PML body|TORC1 complex|TORC2 complex	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity	g.chr1:11188164G>C	L34075	CCDS127.1	1p36	2014-09-17	2009-05-29	2009-05-29	ENSG00000198793	ENSG00000198793			3942	protein-coding gene	gene with protein product	"FK506 binding protein 12-rapamycin associated protein 2", "rapamycin target protein", "FKBP12-rapamycin complex-associated protein 1", "FKBP-rapamycin associated protein", "rapamycin associated protein FRAP2", "dJ576K7.1 (FK506 binding protein 12-rapamycin associated protein 1)", "rapamycin and FKBP12 target 1", "mammalian target of rapamycin"	601231	"FK506 binding protein 12-rapamycin associated protein 1"	FRAP, FRAP2, FRAP1		8008069, 8660990	Standard	NM_004958		Approved	RAFT1, RAPT1, FLJ44809	uc001asd.3	P42345	OTTHUMG00000002001	ENST00000361445.4:c.5930C>G	1.37:g.11188164G>C	ENSP00000354558:p.Thr1977Arg					MTOR_ENST00000376838.1_Missense_Mutation_p.T182R	p.T1977R	NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN			43	6006	-			1977			FAT.		Q4LE76|Q5TER1|Q6LE87|Q96QG3|Q9Y4I3	Missense_Mutation	SNP	ENST00000361445.4	37	c.5930C>G	CCDS127.1	.	.	.	.	.	.	.	.	.	.	G	25.6	4.659586	0.88154	.	.	ENSG00000198793	ENST00000361445;ENST00000376838	T;T	0.81415	-1.49;-1.49	5.8	5.8	0.92144	PIK-related kinase (1);	0.000000	0.85682	D	0.000000	D	0.91556	0.7333	M	0.88704	2.975	0.80722	D	1	D	0.89917	1.0	D	0.68621	0.959	D	0.92373	0.5907	10	0.87932	D	0	-18.9382	20.063	0.97692	0.0:0.0:1.0:0.0	.	1977	P42345	MTOR_HUMAN	R	1977;182	ENSP00000354558:T1977R;ENSP00000366034:T182R	ENSP00000354558:T1977R	T	-	2	0	MTOR	11110751	1.000000	0.71417	0.968000	0.41197	0.902000	0.53008	9.188000	0.94921	2.735000	0.93741	0.655000	0.94253	ACA		0.478	MTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005558.1	NM_004958		10	112	0	0	0	1	0	10	112					C	11188164	G	C	11188164	3	2	34	1	0	0	0	0	1	0	0	0	9954	1377	48	5	1783	5	MTOR	1	11188164	Missense_Mutation	SNP	G	TCGA-CH-5768-01A-11D-1576-08		11188164	238062457	1	1665											
RPE65	6121	broad.mit.edu	37	chr1	68906582	68906582	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atgttgtaggcaattgaaaaAttttttccaaagcaattacc	15	14	6	6	0	0	1	0	1	0	0	1	1	1	1	2	1	2	4	2	1	7	7	rs141527042		TCGA-CH-5768-01A-11D-1576-08	TCGA-CH-5768-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2aa9195-5cd4-4032-941e-90a1f724382c	5b3c1e73-475c-4b3b-a49a-0f11810c5223	g.chr1:68906582A>T	ENST00000262340.5	-	6	650	c.597T>A	c.(595-597)aaT>aaA	p.N199K		NM_000329.2	NP_000320.1	Q16518	RPE65_HUMAN	retinal pigment epithelium-specific protein 65kDa	199					cellular response to electrical stimulus (GO:0071257)|detection of light stimulus involved in visual perception (GO:0050908)|insulin receptor signaling pathway (GO:0008286)|phototransduction, visible light (GO:0007603)|regulation of rhodopsin gene expression (GO:0007468)|retina homeostasis (GO:0001895)|retina morphogenesis in camera-type eye (GO:0060042)|retinal metabolic process (GO:0042574)|retinoid metabolic process (GO:0001523)|visual perception (GO:0007601)|vitamin A metabolic process (GO:0006776)	endoplasmic reticulum (GO:0005783)|plasma membrane (GO:0005886)	all-trans-retinyl-ester hydrolase, 11-cis retinol forming activity (GO:0052885)|all-trans-retinyl-palmitate hydrolase, 11-cis retinol forming activity (GO:0052884)|metal ion binding (GO:0046872)|retinal isomerase activity (GO:0004744)	p.N199K(1)		central_nervous_system(1)|kidney(3)|large_intestine(12)|lung(15)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	35						CAATTGAAAAATTTTTTCCAA	0.388																																						ENST00000262340.5																			1	Substitution - Missense(1)	p.N199K(1)	prostate(1)	central_nervous_system(1)|kidney(3)|large_intestine(12)|lung(15)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	35						c.(595-597)aaT>aaA		retinal pigment epithelium-specific protein 65kDa		A	LYS/ASN	1,4405		0,1,2202	85	89	87		597	-1.1	1	1	dbSNP_134	87	0,8600		0,0,4300	no	missense	RPE65	NM_000329.2	94	0,1,6502	TT,TA,AA		0.0,0.0227,0.0077	benign	199/534	68906582	1,13005	2203	4300	6503	SO:0001583	missense	6121				visual perception	cytoplasm|plasma membrane	all-trans-retinyl-palmitate hydrolase activity|metal ion binding|retinol isomerase activity	g.chr1:68906582A>T	U18991	CCDS643.1	1p31	2014-05-13	2002-08-29		ENSG00000116745	ENSG00000116745	3.1.1.64		10294	protein-coding gene	gene with protein product	"retinol isomerase", "all-trans-retinyl-palmitate hydrolase", "retinoid isomerohydrolase", "BCO family, member 3"	180069	"retinal pigment epithelium-specific protein (65kD)"	RP20		8340400	Standard	XM_006710811		Approved	LCA2, rd12, BCO3	uc001dei.1	Q16518	OTTHUMG00000009208	ENST00000262340.5:c.597T>A	1.37:g.68906582A>T	ENSP00000262340:p.Asn199Lys						p.N199K	NM_000329.2	NP_000320.1	Q16518	RPE65_HUMAN			6	650	-			199					A8K1L0|Q5T9U3	Missense_Mutation	SNP	ENST00000262340.5	37	c.597T>A	CCDS643.1	.	.	.	.	.	.	.	.	.	.	A	3.604	-0.081012	0.07141	2.27E-4	0.0	ENSG00000116745	ENST00000262340	D	0.94330	-3.4	5.43	-1.07	0.09968	.	0.252895	0.46145	D	0.000305	T	0.73369	0.3578	L	0.29908	0.895	0.49798	D	0.999825	B	0.09022	0.002	B	0.08055	0.003	T	0.65356	-0.6188	10	0.02654	T	1	-11.0024	11.6572	0.51325	0.6145:0.0:0.3855:0.0	.	199	Q16518	RPE65_HUMAN	K	199	ENSP00000262340:N199K	ENSP00000262340:N199K	N	-	3	2	RPE65	68679170	1.000000	0.71417	0.997000	0.53966	0.960000	0.62799	0.876000	0.28092	-0.164000	0.10927	-0.361000	0.07541	AAT		0.388	RPE65-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025509.1	NM_000329		3	102	0	0	0	1	0	3	102					T	68906582	A	T	68906582	3	4	34	1	0	0	0	0	1	0	0	0	13545	98	4	5	1040	5	RPE65	1	68906582	Missense_Mutation	SNP	A	TCGA-CH-5768-01A-11D-1576-08	57718418	68906582	180344039	2	1666											
PSRC1	84722	broad.mit.edu	37	chr1	109824423	109824423	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cagcacaaaggtctcccgccGaggactgggcttcactcggc	8	6	12	15	3	2	0	1	0	1	0	4	2	2	1	2	4	1	2	2	4	1	1			TCGA-CH-5768-01A-11D-1576-08	TCGA-CH-5768-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2aa9195-5cd4-4032-941e-90a1f724382c	5b3c1e73-475c-4b3b-a49a-0f11810c5223	g.chr1:109824423G>A	ENST00000438534.2	-	4	475	c.337C>T	c.(337-339)Cgg>Tgg	p.R113W	PSRC1_ENST00000409267.1_Missense_Mutation_p.R113W|PSRC1_ENST00000369903.2_Missense_Mutation_p.R113W|PSRC1_ENST00000369909.2_Missense_Mutation_p.R113W|PSRC1_ENST00000369904.3_Missense_Mutation_p.R113W|PSRC1_ENST00000409138.2_Missense_Mutation_p.R113W|PSRC1_ENST00000369907.3_Missense_Mutation_p.R113W	NM_001005290.3	NP_001005290.1	Q6PGN9	PSRC1_HUMAN	proline/serine-rich coiled-coil 1	113	4 X 4 AA repeats of P-X-X-P.				microtubule bundle formation (GO:0001578)|mitotic metaphase plate congression (GO:0007080)|negative regulation of cell growth (GO:0030308)|positive regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045737)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of mitotic spindle organization (GO:0060236)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle (GO:0005819)	microtubule binding (GO:0008017)	p.R113W(1)		endometrium(1)|large_intestine(1)|lung(2)|prostate(2)|skin(1)	7		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0286)|Lung(183;0.0658)|COAD - Colon adenocarcinoma(174;0.112)|Epithelial(280;0.188)|all cancers(265;0.213)		GTCTCCCGCCGAGGACTGGGC	0.672																																						ENST00000438534.2																			1	Substitution - Missense(1)	p.R113W(1)	prostate(1)	endometrium(1)|large_intestine(1)|lung(2)|prostate(2)|skin(1)	7						c.(337-339)Cgg>Tgg		proline/serine-rich coiled-coil 1							42	45	44					1																	109824423		2203	4300	6503	SO:0001583	missense	84722				cell division|microtubule bundle formation|mitotic metaphase plate congression|negative regulation of cell growth|positive regulation of microtubule polymerization|positive regulation of transcription, DNA-dependent|regulation of mitotic spindle organization	cytosol|midbody|spindle pole	microtubule binding	g.chr1:109824423G>A		CCDS797.1, CCDS30791.1	1p13.3	2008-02-05			ENSG00000134222	ENSG00000134222			24472	protein-coding gene	gene with protein product	"differential display and activated by p53"	613126				12427559, 10618717	Standard	NM_001032291		Approved	DDA3	uc001dxd.3	Q6PGN9	OTTHUMG00000012000	ENST00000438534.2:c.337C>T	1.37:g.109824423G>A	ENSP00000413591:p.Arg113Trp					PSRC1_ENST00000369904.3_Missense_Mutation_p.R113W|PSRC1_ENST00000409138.2_Missense_Mutation_p.R113W|PSRC1_ENST00000369903.2_Missense_Mutation_p.R113W|PSRC1_ENST00000369907.3_Missense_Mutation_p.R113W|PSRC1_ENST00000409267.1_Missense_Mutation_p.R113W|PSRC1_ENST00000369909.2_Missense_Mutation_p.R113W	p.R113W	NM_001005290.3	NP_001005290.1	Q6PGN9	PSRC1_HUMAN		Colorectal(144;0.0286)|Lung(183;0.0658)|COAD - Colon adenocarcinoma(174;0.112)|Epithelial(280;0.188)|all cancers(265;0.213)	4	475	-		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)	113			4 X 4 AA repeats of P-X-X-P.		Q5T2Z3|Q6ZTI8|Q71MG3|Q9BV77	Missense_Mutation	SNP	ENST00000438534.2	37	c.337C>T		.	.	.	.	.	.	.	.	.	.	G	26.1	4.703464	0.88924	.	.	ENSG00000134222	ENST00000369904;ENST00000409267;ENST00000369907;ENST00000438534;ENST00000369909;ENST00000369903;ENST00000429031;ENST00000418914	T;T;T;T;T	0.62105	0.05;0.05;0.05;0.05;0.05	5.74	4.79	0.61399	.	0.000000	0.53938	D	0.000049	T	0.67211	0.2869	L	0.50333	1.59	0.43583	D	0.995929	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;0.999	T	0.69555	-0.5114	10	0.72032	D	0.01	-2.2947	12.1921	0.54277	0.0:0.0:0.8307:0.1693	.	113;113;113	Q6PGN9;Q6PGN9-3;Q6PGN9-2	PSRC1_HUMAN;.;.	W	113	ENSP00000386323:R113W;ENSP00000358923:R113W;ENSP00000413591:R113W;ENSP00000358925:R113W;ENSP00000358919:R113W	ENSP00000358919:R113W	R	-	1	2	PSRC1	109625946	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	1.818000	0.39012	2.716000	0.92895	0.561000	0.74099	CGG		0.672	PSRC1-202	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000335567.3	NM_032636		38	41	0	0	0	1	0	38	41					A	109824423	G	A	109824423	3	1	34	1	0	0	0	0	1	0	0	0	12719	1057	37	2	745	2	PSRC1	1	109824423	Missense_Mutation	SNP	G	TCGA-CH-5768-01A-11D-1576-08	40917841	109824423	139426198	3	1667											
WDR77	79084	broad.mit.edu	37	chr1	111983947	111983947	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccagcccactgtggtaagcaGggagtgattgagcggggacc	9	6	16	10	1	0	2	0	2	0	0	0	4	0	4	3	4	3	2	3	4	1	2			TCGA-CH-5768-01A-11D-1576-08	TCGA-CH-5768-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2aa9195-5cd4-4032-941e-90a1f724382c	5b3c1e73-475c-4b3b-a49a-0f11810c5223	g.chr1:111983947G>C	ENST00000235090.5	-	10	1140	c.934C>G	c.(934-936)Ctg>Gtg	p.L312V	WDR77_ENST00000411751.2_Missense_Mutation_p.L248V|RP11-552M11.4_ENST00000416099.1_RNA|WDR77_ENST00000497278.1_5'UTR	NM_024102.2	NP_077007.1	Q9BQA1	MEP50_HUMAN	WD repeat domain 77	312					gene expression (GO:0010467)|ncRNA metabolic process (GO:0034660)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|positive regulation of cell proliferation (GO:0008284)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|RNA metabolic process (GO:0016070)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)|spliceosomal snRNP assembly (GO:0000387)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|methylosome (GO:0034709)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)	p.L312V(1)		NS(2)|endometrium(2)|kidney(2)|large_intestine(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10		all_cancers(81;0.000902)|all_epithelial(167;0.00056)|all_lung(203;0.00277)|Lung NSC(277;0.0043)		Lung(183;0.0238)|Colorectal(144;0.0296)|all cancers(265;0.0488)|Epithelial(280;0.0732)|COAD - Colon adenocarcinoma(174;0.114)|LUSC - Lung squamous cell carcinoma(189;0.135)		GTGGTAAGCAGGGAGTGATTG	0.537																																						ENST00000235090.5																			1	Substitution - Missense(1)	p.L312V(1)	prostate(1)	NS(2)|endometrium(2)|kidney(2)|large_intestine(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10						c.(934-936)Ctg>Gtg		WD repeat domain 77							114	105	108					1																	111983947		2203	4300	6503	SO:0001583	missense	79084				ncRNA metabolic process|spliceosomal snRNP assembly	cytosol|nucleus	ligand-dependent nuclear receptor transcription coactivator activity|protein binding	g.chr1:111983947G>C	BC016946	CCDS835.1	1p13.2	2013-01-09		2005-08-09	ENSG00000116455	ENSG00000116455		"WD repeat domain containing"	29652	protein-coding gene	gene with protein product		611734				11756452, 8619474	Standard	NM_024102		Approved	MEP50	uc001ebb.3	Q9BQA1	OTTHUMG00000011748	ENST00000235090.5:c.934C>G	1.37:g.111983947G>C	ENSP00000235090:p.Leu312Val					WDR77_ENST00000497278.1_5'UTR|WDR77_ENST00000411751.2_Missense_Mutation_p.L248V	p.L312V	NM_024102.2	NP_077007.1	Q9BQA1	MEP50_HUMAN		Lung(183;0.0238)|Colorectal(144;0.0296)|all cancers(265;0.0488)|Epithelial(280;0.0732)|COAD - Colon adenocarcinoma(174;0.114)|LUSC - Lung squamous cell carcinoma(189;0.135)	10	1140	-		all_cancers(81;0.000902)|all_epithelial(167;0.00056)|all_lung(203;0.00277)|Lung NSC(277;0.0043)	312					B3KMW6|B4DP38|Q3LID2|Q53FU2|Q6JZZ5|Q96GK4|Q9BWY3	Missense_Mutation	SNP	ENST00000235090.5	37	c.934C>G	CCDS835.1	.	.	.	.	.	.	.	.	.	.	G	17.61	3.433404	0.62844	.	.	ENSG00000116455	ENST00000235090;ENST00000411751	T;T	0.31510	1.54;1.49	5.91	5.91	0.95273	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.321554	0.35378	N	0.003247	T	0.13415	0.0325	M	0.64997	1.995	0.34973	D	0.753331	B;P	0.36086	0.126;0.536	B;B	0.24269	0.035;0.052	T	0.19160	-1.0314	10	0.52906	T	0.07	-19.3641	6.5778	0.22577	0.1107:0.0:0.7185:0.1709	.	248;312	B4DP38;Q9BQA1	.;MEP50_HUMAN	V	312;248	ENSP00000235090:L312V;ENSP00000400321:L248V	ENSP00000235090:L312V	L	-	1	2	WDR77	111785470	1.000000	0.71417	1.000000	0.80357	0.924000	0.55760	3.145000	0.50623	2.808000	0.96608	0.655000	0.94253	CTG		0.537	WDR77-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032465.1	NM_024102		13	130	0	0	0	1	0	13	130					C	111983947	G	C	111983947	3	2	34	1	0	0	0	0	1	0	0	0	17324	991	35	5	98	5	WDR77	1	111983947	Missense_Mutation	SNP	G	TCGA-CH-5768-01A-11D-1576-08	2159524	111983947	137266674	4	1668											
AP4B1	10717	broad.mit.edu	37	chr1	114442814	114442814	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tagcaaaggtcccttgacccGcacaaggacatcagtttgta	12	9	9	11	1	1	1	1	1	0	0	2	2	2	2	2	2	1	4	2	2	4	4			TCGA-CH-5768-01A-11D-1576-08	TCGA-CH-5768-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2aa9195-5cd4-4032-941e-90a1f724382c	5b3c1e73-475c-4b3b-a49a-0f11810c5223	g.chr1:114442814G>A	ENST00000369569.1	-	5	1106	c.826C>T	c.(826-828)Cgg>Tgg	p.R276W	AP4B1_ENST00000369567.1_Missense_Mutation_p.R108W|AP4B1-AS1_ENST00000419536.1_RNA|AP4B1_ENST00000369566.3_Missense_Mutation_p.R183W|AP4B1_ENST00000256658.4_Missense_Mutation_p.R276W|AP4B1_ENST00000462591.1_5'Flank	NM_001253852.1	NP_001240781.1	Q9Y6B7	AP4B1_HUMAN	adaptor-related protein complex 4, beta 1 subunit	276					intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	clathrin adaptor complex (GO:0030131)|coated pit (GO:0005905)|trans-Golgi network (GO:0005802)	protein transporter activity (GO:0008565)|transporter activity (GO:0005215)	p.R276W(2)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|ovary(3)|prostate(3)	25	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.1e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CCCTTGACCCGCACAAGGACA	0.483																																						ENST00000369569.1																			2	Substitution - Missense(2)	p.R276W(2)	prostate(2)	breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|ovary(3)|prostate(3)	25						c.(826-828)Cgg>Tgg		adaptor-related protein complex 4, beta 1 subunit							74	81	78					1																	114442814		2203	4300	6503	SO:0001583	missense	10717				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|soluble fraction|trans-Golgi network	protein binding|protein transporter activity	g.chr1:114442814G>A	AF092094	CCDS865.1	1p13.2	2012-03-30			ENSG00000134262	ENSG00000134262			572	protein-coding gene	gene with protein product	"beta 4 subunit of AP-4"	607245	"spastic paraplegia 47"	SPG47		10066790	Standard	NM_006594		Approved	BETA-4	uc001eeb.3	Q9Y6B7	OTTHUMG00000011943	ENST00000369569.1:c.826C>T	1.37:g.114442814G>A	ENSP00000358582:p.Arg276Trp					AP4B1_ENST00000369566.3_Missense_Mutation_p.R183W|AP4B1_ENST00000256658.4_Missense_Mutation_p.R276W|AP4B1-AS1_ENST00000419536.1_RNA|AP4B1_ENST00000369567.1_Missense_Mutation_p.R108W	p.R276W	NM_001253852.1	NP_001240781.1	Q9Y6B7	AP4B1_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	5	1106	-	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.1e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)	276					B7Z4X3|Q59EJ4|Q96CL6	Missense_Mutation	SNP	ENST00000369569.1	37	c.826C>T	CCDS865.1	.	.	.	.	.	.	.	.	.	.	G	16.98	3.272545	0.59649	.	.	ENSG00000134262	ENST00000369567;ENST00000369569;ENST00000256658;ENST00000369566;ENST00000369564;ENST00000432415	T;T;T;T;T;T	0.27104	1.69;1.69;1.69;2.55;1.69;1.69	5.09	3.04	0.35103	Clathrin/coatomer adaptor, adaptin-like, N-terminal (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.174999	0.49305	D	0.000144	T	0.47192	0.1432	M	0.87328	2.875	0.41890	D	0.990362	D;D;D;D	0.89917	1.0;1.0;0.998;1.0	D;D;D;D	0.91635	0.999;0.995;0.974;0.99	T	0.62186	-0.6907	10	0.87932	D	0	.	15.2638	0.73646	0.0:0.0:0.6536:0.3464	.	183;108;276;177	B7Z4X3;B1ALD0;Q9Y6B7;B4DTG3	.;.;AP4B1_HUMAN;.	W	108;276;276;183;201;108	ENSP00000358580:R108W;ENSP00000358582:R276W;ENSP00000256658:R276W;ENSP00000358579:R183W;ENSP00000358577:R201W;ENSP00000393622:R108W	ENSP00000256658:R276W	R	-	1	2	AP4B1	114244337	0.992000	0.36948	0.837000	0.33122	0.912000	0.54170	1.685000	0.37659	1.225000	0.43566	0.561000	0.74099	CGG		0.483	AP4B1-009	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033037.1	NM_006594		13	101	0	0	0	1	0	13	101					A	114442814	G	A	114442814	3	1	34	1	0	0	0	0	1	0	0	0	751	1086	38	1	1417	1	AP4B1	1	114442814	Missense_Mutation	SNP	G	TCGA-CH-5768-01A-11D-1576-08	2458867	114442814	134807807	5	1669											
OR10T2	128360	broad.mit.edu	37	chr1	158368837	158368837	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gaaatcaactccaaccccagCcttttgtttatgatgagtgt	11	13	7	10	0	1	2	1	2	0	0	2	3	2	2	4	0	3	1	4	0	4	4			TCGA-CH-5768-01A-11D-1576-08	TCGA-CH-5768-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2aa9195-5cd4-4032-941e-90a1f724382c	5b3c1e73-475c-4b3b-a49a-0f11810c5223	g.chr1:158368837C>T	ENST00000334438.1	-	1	419	c.420G>A	c.(418-420)agG>agA	p.R140R		NM_001004475.1	NP_001004475.1	Q8NGX3	O10T2_HUMAN	olfactory receptor, family 10, subfamily T, member 2	140						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R140R(1)		central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34	all_hematologic(112;0.0378)					CCAACCCCAGCCTTTTGTTTA	0.473																																						ENST00000334438.1																			1	Substitution - coding silent(1)	p.R140R(1)	prostate(1)	central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						c.(418-420)agG>agA		olfactory receptor, family 10, subfamily T, member 2							103	102	102					1																	158368837		2203	4300	6503	SO:0001819	synonymous_variant	128360				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158368837C>T	AB065643	CCDS30895.1	1q23.1	2012-08-09			ENSG00000186306	ENSG00000186306		"GPCR / Class A : Olfactory receptors"	14816	protein-coding gene	gene with protein product							Standard	NM_001004475		Approved		uc010pih.2	Q8NGX3	OTTHUMG00000017521	ENST00000334438.1:c.420G>A	1.37:g.158368837C>T							p.R140R	NM_001004475.1	NP_001004475.1	Q8NGX3	O10T2_HUMAN			1	419	-	all_hematologic(112;0.0378)		140					Q6IF98	Silent	SNP	ENST00000334438.1	37	c.420G>A	CCDS30895.1																																																																																				0.473	OR10T2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046371.1	NM_001004475		7	202	0	0	0	1	0	7	202					T	158368837	C	T	158368837	2	4	34	1	0	0	0	0	0	0	0	1	10919	738	26	3		3	OR10T2	1	158368837	Silent	SNP	C	TCGA-CH-5768-01A-11D-1576-08	43926023	158368837	90881784	6	1670											
SPTA1	6708	broad.mit.edu	37	chr1	158615313	158615313	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tctccagcaagatctctatgCcagttaagtcttcggccagc	9	11	8	13	1	3	1	0	0	3	1	6	1	3	1	3	1	3	2	3	1	3	3			TCGA-CH-5768-01A-11D-1576-08	TCGA-CH-5768-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2aa9195-5cd4-4032-941e-90a1f724382c	5b3c1e73-475c-4b3b-a49a-0f11810c5223	g.chr1:158615313C>A	ENST00000368147.4	-	28	4148	c.3968G>T	c.(3967-3969)gGc>gTc	p.G1323V		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	1323					actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					GATCTCTATGCCAGTTAAGTC	0.423																																						ENST00000368148.3																			0				NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307						c.(3967-3969)gGc>gTc		spectrin, alpha, erythrocytic 1 (elliptocytosis 2)							156	155	155					1																	158615313		2018	4159	6177	SO:0001583	missense	6708				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	g.chr1:158615313C>A	M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"EF-hand domain containing"	11272	protein-coding gene	gene with protein product	"elliptocytosis 2"	182860	"spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.3968G>T	1.37:g.158615313C>A	ENSP00000357129:p.Gly1323Val					SPTA1_ENST00000368147.3_Missense_Mutation_p.G1323V	p.G1323V	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN			28	4148	-	all_hematologic(112;0.0378)		1323					Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Missense_Mutation	SNP	ENST00000368147.4	37	c.3968G>T	CCDS41423.1	.	.	.	.	.	.	.	.	.	.	C	25.2	4.617115	0.87359	.	.	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.52057	0.68;0.68	5.07	5.07	0.68467	.	.	.	.	.	T	0.67221	0.2870	M	0.86502	2.82	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.67511	-0.5652	9	0.35671	T	0.21	.	17.2029	0.86910	0.0:1.0:0.0:0.0	.	1323	P02549	SPTA1_HUMAN	V	1323	ENSP00000357130:G1323V;ENSP00000357129:G1323V	ENSP00000357129:G1323V	G	-	2	0	SPTA1	156881937	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	4.156000	0.58138	2.635000	0.89317	0.655000	0.94253	GGC		0.423	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126		4	181	1	0	0.00909568	1	0.00989155	4	181					A	158615313	C	A	158615313	3	1	34	1	0	0	0	0	1	0	0	0	15115	739	26	5	3391	5	SPTA1	1	158615313	Missense_Mutation	SNP	C	TCGA-CH-5768-01A-11D-1576-08	246476	158615313	90635308	7	1671											
OR6K6	128371	broad.mit.edu	37	chr1	158725158	158725158	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tttgtggcttcctccttgtgCttcctgagattgcatggatt	4	18	10	9	0	0	1	0	1	0	1	3	3	3	2	3	2	2	3	3	2	0	6			TCGA-CH-5768-01A-11D-1576-08	TCGA-CH-5768-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2aa9195-5cd4-4032-941e-90a1f724382c	5b3c1e73-475c-4b3b-a49a-0f11810c5223	g.chr1:158725158C>A	ENST00000368144.2	+	1	649	c.553C>A	c.(553-555)Ctt>Att	p.L185I		NM_001005184.1	NP_001005184.1	Q8NGW6	OR6K6_HUMAN	olfactory receptor, family 6, subfamily K, member 6	185						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L185I(1)		endometrium(1)|large_intestine(5)|lung(17)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_hematologic(112;0.0378)					CCTCCTTGTGCTTCCTGAGAT	0.488																																						ENST00000368144.2																			1	Substitution - Missense(1)	p.L185I(1)	prostate(1)	endometrium(1)|large_intestine(5)|lung(17)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(553-555)Ctt>Att		olfactory receptor, family 6, subfamily K, member 6							145	117	126					1																	158725158		2203	4300	6503	SO:0001583	missense	128371				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158725158C>A	BK004198	CCDS30904.1	1q23.1	2012-08-09			ENSG00000180433	ENSG00000180433		"GPCR / Class A : Olfactory receptors"	15033	protein-coding gene	gene with protein product							Standard	NM_001005184		Approved		uc001fsw.1	Q8NGW6	OTTHUMG00000022772	ENST00000368144.2:c.553C>A	1.37:g.158725158C>A	ENSP00000357126:p.Leu185Ile						p.L185I	NM_001005184.1	NP_001005184.1	Q8NGW6	OR6K6_HUMAN			1	649	+	all_hematologic(112;0.0378)		185					B9EIM8|Q5VUU9|Q6IFR4	Missense_Mutation	SNP	ENST00000368144.2	37	c.553C>A	CCDS30904.1	.	.	.	.	.	.	.	.	.	.	C	12.37	1.919099	0.33908	.	.	ENSG00000180433	ENST00000368144	T	0.00249	8.44	5.48	5.48	0.80851	GPCR, rhodopsin-like superfamily (1);	0.000000	0.39615	N	0.001305	T	0.00144	0.0004	L	0.50919	1.6	0.25476	N	0.987785	D	0.76494	0.999	D	0.74023	0.982	T	0.55879	-0.8071	10	0.21540	T	0.41	-25.2736	7.7923	0.29127	0.0:0.7523:0.1642:0.0835	.	185	Q8NGW6	OR6K6_HUMAN	I	185	ENSP00000357126:L185I	ENSP00000357126:L185I	L	+	1	0	OR6K6	156991782	0.000000	0.05858	1.000000	0.80357	0.457000	0.32468	-0.191000	0.09601	2.848000	0.98002	0.655000	0.94253	CTT		0.488	OR6K6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059065.2	NM_001005184		7	122	1	0	0.27861	1	0.288561	7	122					A	158725158	C	A	158725158	3	1	34	1	0	0	0	0	1	0	0	0	11204	797	28	5	555	5	OR6K6	1	158725158	Missense_Mutation	SNP	C	TCGA-CH-5768-01A-11D-1576-08	109845	158725158	90525463	8	1672											
C1orf125	126859	broad.mit.edu	37	chr1	179452332	179452332	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ataggcaatgaaattaacaaCggtaacattgaacttcagca	18	9	7	7	1	1	2	1	2	0	0	1	2	1	2	0	2	5	3	0	2	7	5	rs141202947		TCGA-CH-5768-01A-11D-1576-08	TCGA-CH-5768-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2aa9195-5cd4-4032-941e-90a1f724382c	5b3c1e73-475c-4b3b-a49a-0f11810c5223	g.chr1:179452332C>T	ENST00000367618.3	+	18	2454	c.2067C>T	c.(2065-2067)aaC>aaT	p.N689N	AL160286.1_ENST00000600581.1_Intron|AXDND1_ENST00000457238.2_3'UTR	NM_144696.4	NP_653297.3	Q5T1B0	AXDN1_HUMAN	axonemal dynein light chain domain containing 1	689								p.N689N(1)		NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(27)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	59						AAATTAACAACGGTAACATTG	0.348																																						ENST00000367618.3																			1	Substitution - coding silent(1)	p.N689N(1)	prostate(1)	NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(27)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	59						c.(2065-2067)aaC>aaT		axonemal dynein light chain domain containing 1		C		0,4406		0,0,2203	137	133	134		2067	-9.7	0.2	1	dbSNP_134	134	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	AXDND1	NM_144696.4		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		689/1013	179452332	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	126859							g.chr1:179452332C>T	BX647935	CCDS30948.1	1q25.2	2011-02-18	2011-02-18	2011-02-18	ENSG00000162779	ENSG00000162779			26564	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 125"	C1orf125		14702039	Standard	NM_144696		Approved	FLJ32940	uc001gmo.3	Q5T1B0	OTTHUMG00000035266	ENST00000367618.3:c.2067C>T	1.37:g.179452332C>T						AL160286.1_ENST00000600581.1_Intron|AXDND1_ENST00000457238.2_3'UTR	p.N689N	NM_144696.4	NP_653297.3	Q5T1B0	AXDN1_HUMAN			18	2454	+			689					Q6AWB2|Q96LJ3|Q96M01	Silent	SNP	ENST00000367618.3	37	c.2067C>T	CCDS30948.1																																																																																				0.348	AXDND1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085312.1	NM_144696		38	144	0	0	0	1	0	38	144					T	179452332	C	T	179452332	2	4	34	1	0	0	0	0	0	0	0	1	1993	535	19	1		1	C1orf125	1	179452332	Silent	SNP	C	TCGA-CH-5768-01A-11D-1576-08	20727174	179452332	69798289	9	1673											
C1orf116	79098	broad.mit.edu	37	chr1	207195320	207195320	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	agtctactccttcaacagtcCcagcttcttcagggcctccc	7	11	6	17	0	4	0	2	0	2	0	7	0	7	0	4	1	3	1	4	1	2	4			TCGA-CH-5768-01A-11D-1576-08	TCGA-CH-5768-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2aa9195-5cd4-4032-941e-90a1f724382c	5b3c1e73-475c-4b3b-a49a-0f11810c5223	g.chr1:207195320C>T	ENST00000359470.5	-	4	2038	c.1789G>A	c.(1789-1791)Gga>Aga	p.G597R	C1orf116_ENST00000461135.2_Missense_Mutation_p.G351R	NM_023938.5	NP_076427.2	Q9BW04	SARG_HUMAN	chromosome 1 open reading frame 116	597						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)		p.G597R(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(4)|stomach(1)	29	Prostate(682;0.19)					TTCAACAGTCCCAGCTTCTTC	0.562																																						ENST00000359470.5																			1	Substitution - Missense(1)	p.G597R(1)	prostate(1)	autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(4)|stomach(1)	29						c.(1789-1791)Gga>Aga		chromosome 1 open reading frame 116							110	103	105					1																	207195320		2203	4300	6503	SO:0001583	missense	79098					cytoplasm|plasma membrane	receptor activity	g.chr1:207195320C>T		CCDS1475.1, CCDS44306.1	1q32.1	2012-06-26			ENSG00000182795	ENSG00000182795			28667	protein-coding gene	gene with protein product	"specifically androgen-regulated gene"	611680				15525603, 9389513	Standard	NM_023938		Approved	SARG, FLJ36507, MGC2742, MGC4309	uc001hfd.2	Q9BW04	OTTHUMG00000036580	ENST00000359470.5:c.1789G>A	1.37:g.207195320C>T	ENSP00000352447:p.Gly597Arg					C1orf116_ENST00000461135.2_Missense_Mutation_p.G351R	p.G597R	NM_023938.5	NP_076427.2	Q9BW04	SARG_HUMAN			4	2038	-	Prostate(682;0.19)		597					C9JV41|Q658X3	Missense_Mutation	SNP	ENST00000359470.5	37	c.1789G>A	CCDS1475.1	.	.	.	.	.	.	.	.	.	.	C	31	5.087858	0.94100	.	.	ENSG00000182795	ENST00000359470;ENST00000461135	T;T	0.68479	-0.33;-0.33	5.45	5.45	0.79879	.	0.000000	0.85682	D	0.000000	T	0.81297	0.4793	M	0.66939	2.045	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.82882	-0.0237	10	0.87932	D	0	-9.2918	18.2789	0.90092	0.0:1.0:0.0:0.0	.	597	Q9BW04	SARG_HUMAN	R	597;351	ENSP00000352447:G597R;ENSP00000436862:G351R	ENSP00000352447:G597R	G	-	1	0	C1orf116	205261943	1.000000	0.71417	0.999000	0.59377	0.999000	0.98932	6.574000	0.74014	2.561000	0.86390	0.655000	0.94253	GGA		0.562	C1orf116-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088973.1	NM_024115		4	106	0	0	0	1	0	4	106					T	207195320	C	T	207195320	3	4	34	1	0	0	0	0	1	0	0	0	1989	632	22	3	20	3	C1orf116	1	207195320	Missense_Mutation	SNP	C	TCGA-CH-5768-01A-11D-1576-08	27742988	207195320	42055301	10	1674											
RYR2	6262	broad.mit.edu	37	chr1	237969520	237969520	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttgccgctcaccttctcgaCattgctatgggattcaagac	8	13	8	12	2	3	1	2	0	1	1	4	3	3	2	2	1	2	2	2	1	2	5			TCGA-CH-5768-01A-11D-1576-08	TCGA-CH-5768-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2aa9195-5cd4-4032-941e-90a1f724382c	5b3c1e73-475c-4b3b-a49a-0f11810c5223	g.chr1:237969520C>A	ENST00000366574.2	+	99	14552	c.14235C>A	c.(14233-14235)gaC>gaA	p.D4745E	RYR2_ENST00000360064.6_Missense_Mutation_p.D4751E|RYR2_ENST00000542537.1_Missense_Mutation_p.D4729E	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4745					BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)	p.D4745E(1)|p.D4743E(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			ACCTTCTCGACATTGCTATGG	0.393																																						ENST00000366574.2																			2	Substitution - Missense(2)	p.D4745E(1)|p.D4743E(1)	prostate(2)	NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586						c.(14233-14235)gaC>gaA		ryanodine receptor 2 (cardiac)							196	175	181					1																	237969520		1891	4113	6004	SO:0001583	missense	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237969520C>A	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"Ion channels / Ryanodine receptors", "EF-hand domain containing"	10484	protein-coding gene	gene with protein product		180902	"arrhythmogenic right ventricular dysplasia 2"	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.14235C>A	1.37:g.237969520C>A	ENSP00000355533:p.Asp4745Glu					RYR2_ENST00000360064.6_Missense_Mutation_p.D4751E|RYR2_ENST00000542537.1_Missense_Mutation_p.D4729E	p.D4745E	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		99	14552	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	4745					Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	c.14235C>A	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.321723	0.81580	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537;ENST00000536033	D;D;D	0.98362	-4.89;-4.89;-4.89	5.43	3.53	0.40419	Ion transport (1);	0.000000	0.64402	U	0.000005	D	0.98551	0.9516	M	0.77616	2.38	0.49687	D	0.999814	D;D	0.64830	0.994;0.992	P;D	0.79108	0.873;0.992	D	0.98988	1.0807	10	0.87932	D	0	.	10.1785	0.42952	0.0:0.7859:0.0:0.2141	.	178;4745	F5H3C7;Q92736	.;RYR2_HUMAN	E	4745;4751;4729;178	ENSP00000355533:D4745E;ENSP00000353174:D4751E;ENSP00000443798:D4729E	ENSP00000353174:D4751E	D	+	3	2	RYR2	236036143	0.998000	0.40836	1.000000	0.80357	0.980000	0.70556	0.727000	0.25999	1.431000	0.47355	0.655000	0.94253	GAC		0.393	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		27	77	1	0	2.48779e-11	1	2.81089e-11	27	77					A	237969520	C	A	237969520	3	1	34	1	0	0	0	0	1	0	0	0	13769	477	17	5	14629	5	RYR2	1	237969520	Missense_Mutation	SNP	C	TCGA-CH-5768-01A-11D-1576-08	30774200	237969520	11281101	11	1675											
APOB	338	broad.mit.edu	37	chr2	21229067	21229067	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gctcccagagggaatatatgCgttggagtgtggcttctcca	8	11	13	9	1	1	1	0	0	1	1	3	3	2	3	2	3	1	3	2	3	3	4			TCGA-CH-5768-01A-11D-1576-08	TCGA-CH-5768-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2aa9195-5cd4-4032-941e-90a1f724382c	5b3c1e73-475c-4b3b-a49a-0f11810c5223	g.chr2:21229067C>T	ENST00000233242.1	-	26	10800	c.10673G>A	c.(10672-10674)cGc>cAc	p.R3558H		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	3558			R -> C (in FDB; dbSNP:rs12713559). {ECO:0000269|PubMed:7883971, ECO:0000269|PubMed:9259199}.		artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)	p.R3558H(1)		NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGAATATATGCGTTGGAGTGT	0.463																																						ENST00000233242.1																			1	Substitution - Missense(1)	p.R3558H(1)	prostate(1)	NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305						c.(10672-10674)cGc>cAc		apolipoprotein B	Atorvastatin(DB01076)						67	69	68					2																	21229067		2203	4300	6503	SO:0001583	missense	338				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	g.chr2:21229067C>T	M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"Apolipoproteins"	603	protein-coding gene	gene with protein product		107730	"apolipoprotein B (including Ag(x) antigen)"				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.10673G>A	2.37:g.21229067C>T	ENSP00000233242:p.Arg3558His						p.R3558H	NM_000384.2	NP_000375.2	P04114	APOB_HUMAN			26	10800	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		3558		R -> C (in FDB; dbSNP:rs12713559).			O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Missense_Mutation	SNP	ENST00000233242.1	37	c.10673G>A	CCDS1703.1	.	.	.	.	.	.	.	.	.	.	C	15.50	2.852750	0.51270	.	.	ENSG00000084674	ENST00000233242;ENST00000535079	T	0.79454	-1.27	5.85	3.74	0.42951	.	0.000000	0.64402	D	0.000016	D	0.86727	0.6002	M	0.77616	2.38	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.86773	0.1974	10	0.41790	T	0.15	.	13.4888	0.61382	0.0:0.8527:0.0:0.1473	.	3558	P04114	APOB_HUMAN	H	3558	ENSP00000233242:R3558H	ENSP00000233242:R3558H	R	-	2	0	APOB	21082572	0.839000	0.29477	0.956000	0.39512	0.530000	0.34684	1.707000	0.37888	1.478000	0.48253	0.655000	0.94253	CGC		0.463	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1			49	90	0	0	0	1	0	49	90					T	21229067	C	T	21229067	3	4	34	1	0	0	0	0	1	0	0	0	785	768	27	1	3034	1	APOB	2	21229067	Missense_Mutation	SNP	C	TCGA-CH-5768-01A-11D-1576-08		21229067	221970306	12	1676											
C2orf71	388939	broad.mit.edu	37	chr2	29295481	29295481	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gggacaaacttgatcctttcGctgattgactccttcatctt	8	15	7	11	1	2	3	1	3	1	0	5	4	4	4	2	1	1	1	2	1	1	5			TCGA-CH-5768-01A-11D-1576-08	TCGA-CH-5768-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2aa9195-5cd4-4032-941e-90a1f724382c	5b3c1e73-475c-4b3b-a49a-0f11810c5223	g.chr2:29295481G>A	ENST00000331664.5	-	1	1646	c.1647C>T	c.(1645-1647)agC>agT	p.S549S		NM_001029883.2	NP_001025054.1	A6NGG8	CB071_HUMAN	chromosome 2 open reading frame 71	549					response to stimulus (GO:0050896)|visual perception (GO:0007601)	primary cilium (GO:0072372)		p.S549S(2)		NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1)	60						TGATCCTTTCGCTGATTGACT	0.582																																						ENST00000331664.5																			2	Substitution - coding silent(2)	p.S549S(2)	large_intestine(1)|prostate(1)	NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1)	60						c.(1645-1647)agC>agT		chromosome 2 open reading frame 71							48	51	50					2																	29295481		2000	4162	6162	SO:0001819	synonymous_variant	388939				response to stimulus|visual perception	photoreceptor outer segment		g.chr2:29295481G>A		CCDS42669.1	2p23.2	2014-01-28			ENSG00000179270	ENSG00000179270			34383	protein-coding gene	gene with protein product		613425				20398886	Standard	NM_001029883		Approved	FLJ34931, RP54	uc002rmt.2	A6NGG8	OTTHUMG00000152024	ENST00000331664.5:c.1647C>T	2.37:g.29295481G>A							p.S549S	NM_001029883.2	NP_001025054.1	A6NGG8	CB071_HUMAN			1	1646	-			549						Silent	SNP	ENST00000331664.5	37	c.1647C>T	CCDS42669.1																																																																																				0.582	C2orf71-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000324924.3	NM_001029883		48	101	0	0	0	1	0	48	101					A	29295481	G	A	29295481	2	1	34	1	0	0	0	0	0	0	0	1	2191	1078	38	1		1	C2orf71	2	29295481	Silent	SNP	G	TCGA-CH-5768-01A-11D-1576-08	8066414	29295481	213903892	13	1677											
ITPRIPL1	150771	broad.mit.edu	37	chr2	96993657	96993657	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tccagatcattttaagtctcCggcagcatcagagcttaccc	10	11	7	13	1	3	2	2	0	1	2	5	2	4	2	3	1	3	3	3	1	2	3			TCGA-CH-5768-01A-11D-1576-08	TCGA-CH-5768-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2aa9195-5cd4-4032-941e-90a1f724382c	5b3c1e73-475c-4b3b-a49a-0f11810c5223	g.chr2:96993657C>T	ENST00000439118.2	+	3	1539	c.1288C>T	c.(1288-1290)Cgg>Tgg	p.R430W	ITPRIPL1_ENST00000542887.1_Missense_Mutation_p.R422W|ITPRIPL1_ENST00000536814.1_Missense_Mutation_p.R422W|ITPRIPL1_ENST00000361124.4_Missense_Mutation_p.R438W	NM_001008949.2	NP_001008949.1	Q6GPH6	IPIL1_HUMAN	inositol 1,4,5-trisphosphate receptor interacting protein-like 1	430						integral component of membrane (GO:0016021)|membrane (GO:0016020)		p.R438W(1)		breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						TTTAAGTCTCCGGCAGCATCA	0.557																																						ENST00000361124.4																			1	Substitution - Missense(1)	p.R438W(1)	prostate(1)	breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(1312-1314)Cgg>Tgg		inositol 1,4,5-trisphosphate receptor interacting protein-like 1							95	95	95					2																	96993657		2203	4300	6503	SO:0001583	missense	150771					integral to membrane		g.chr2:96993657C>T		CCDS33250.1, CCDS46360.1, CCDS54378.1	2q11.2	2011-04-28	2011-04-28	2008-08-11	ENSG00000198885	ENSG00000198885			29371	protein-coding gene	gene with protein product			"KIAA1754-like", "inositol 1,4,5-triphosphate receptor interacting protein-like 1"	KIAA1754L		12477932	Standard	NM_178495		Approved		uc010yul.2	Q6GPH6	OTTHUMG00000155230	ENST00000439118.2:c.1288C>T	2.37:g.96993657C>T	ENSP00000389308:p.Arg430Trp					ITPRIPL1_ENST00000542887.1_Missense_Mutation_p.R422W|ITPRIPL1_ENST00000439118.2_Missense_Mutation_p.R430W|ITPRIPL1_ENST00000536814.1_Missense_Mutation_p.R422W	p.R438W	NM_178495.5	NP_848590.3	Q6GPH6	IPIL1_HUMAN			1	1723	+			430					F5H1L8|Q8NE61	Missense_Mutation	SNP	ENST00000439118.2	37	c.1312C>T	CCDS46360.1	.	.	.	.	.	.	.	.	.	.	C	2.253	-0.371011	0.05034	.	.	ENSG00000198885	ENST00000536814;ENST00000439118;ENST00000361124;ENST00000542887	T;T;T;T	0.09817	2.94;2.94;2.94;2.94	5.5	1.48	0.22813	.	1.211210	0.06194	N	0.681849	T	0.09905	0.0243	L	0.39245	1.2	0.21841	N	0.999512	B;B	0.14012	0.001;0.009	B;B	0.04013	0.0;0.001	T	0.38757	-0.9646	10	0.37606	T	0.19	-14.2611	5.6295	0.17501	0.1259:0.5671:0.0:0.307	.	438;430	Q6GPH6-2;Q6GPH6	.;IPIL1_HUMAN	W	422;430;438;422	ENSP00000439566:R422W;ENSP00000389308:R430W;ENSP00000355121:R438W;ENSP00000438212:R422W	ENSP00000355121:R438W	R	+	1	2	ITPRIPL1	96357384	0.084000	0.21492	0.083000	0.20561	0.036000	0.12997	2.244000	0.43124	0.089000	0.17243	-0.751000	0.03497	CGG		0.557	ITPRIPL1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000338896.1	NM_178495		4	183	0	0	0	1	0	4	183					T	96993657	C	T	96993657	3	4	34	1	0	0	0	0	1	0	0	0	7924	643	23	2	1328	2	ITPRIPL1	2	96993657	Missense_Mutation	SNP	C	TCGA-CH-5768-01A-11D-1576-08	67698176	96993657	146205716	14	1678											
METTL5	29081	broad.mit.edu	37	chr2	170677648	170677648	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggattcataattactgtatcGaatgacttggacattctgtt	11	16	8	6	1	2	1	1	1	1	0	3	4	2	3	0	2	1	2	0	2	4	7	rs373339746		TCGA-CH-5768-01A-11D-1576-08	TCGA-CH-5768-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2aa9195-5cd4-4032-941e-90a1f724382c	5b3c1e73-475c-4b3b-a49a-0f11810c5223	g.chr2:170677648G>A	ENST00000260953.5	-	3	676	c.360C>T	c.(358-360)ttC>ttT	p.F120F	METTL5_ENST00000409340.1_Intron|METTL5_ENST00000308099.3_Silent_p.F120F|METTL5_ENST00000410097.1_Silent_p.F120F|METTL5_ENST00000409965.1_Silent_p.F120F|METTL5_ENST00000409837.1_Silent_p.F120F|METTL5_ENST00000392640.2_Silent_p.F120F	NM_014168.2	NP_054887.2	Q9NRN9	METL5_HUMAN	methyltransferase like 5	120							methyltransferase activity (GO:0008168)|nucleic acid binding (GO:0003676)	p.F120F(2)		breast(2)|central_nervous_system(1)|large_intestine(5)|lung(1)|prostate(1)	10						TTACTGTATCGAATGACTTGG	0.303																																						ENST00000410097.1																			2	Substitution - coding silent(2)	p.F120F(2)	large_intestine(1)|prostate(1)	breast(2)|central_nervous_system(1)|large_intestine(5)|lung(1)|prostate(1)	10						c.(358-360)ttC>ttT		methyltransferase like 5		G		0,4406		0,0,2203	103	103	103		360	3.8	1	2		103	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	METTL5	NM_014168.2		0,2,6501	AA,AG,GG		0.0233,0.0,0.0154		120/210	170677648	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	29081						methyltransferase activity|nucleic acid binding	g.chr2:170677648G>A	AF201938	CCDS33320.1	2q31.1	2011-01-28			ENSG00000138382	ENSG00000138382			25006	protein-coding gene	gene with protein product						11042152	Standard	XM_005246478		Approved	HSPC133	uc002ufn.3	Q9NRN9	OTTHUMG00000154117	ENST00000260953.5:c.360C>T	2.37:g.170677648G>A						METTL5_ENST00000392640.2_Silent_p.F120F|METTL5_ENST00000260953.5_Silent_p.F120F|METTL5_ENST00000409965.1_Silent_p.F120F|METTL5_ENST00000409837.1_Silent_p.F120F|METTL5_ENST00000308099.3_Silent_p.F120F|METTL5_ENST00000409340.1_Intron	p.F120F			Q9NRN9	METL5_HUMAN			4	495	-			120					D3DPC9|Q9NVX1	Silent	SNP	ENST00000260953.5	37	c.360C>T	CCDS33320.1	.	.	.	.	.	.	.	.	.	.	G	9.178	1.022876	0.19433	0.0	2.33E-4	ENSG00000138382	ENST00000540464;ENST00000442181	.	.	.	5.04	3.81	0.43845	.	.	.	.	.	T	0.58119	0.2100	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.53373	-0.8448	4	.	.	.	-2.7061	8.2197	0.31534	0.8422:0.0:0.1578:0.0	.	.	.	.	L	120;31	.	.	S	-	2	0	METTL5	170385894	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	3.675000	0.54605	0.854000	0.35336	-0.290000	0.09829	TCG		0.303	METTL5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333957.1	NM_014168		4	117	0	0	0	1	0	4	117					A	170677648	G	A	170677648	2	1	34	1	0	0	0	0	0	0	0	1	9503	1049	37	2		2	METTL5	2	170677648	Silent	SNP	G	TCGA-CH-5768-01A-11D-1576-08	73683991	170677648	72521725	15	1679											
TTN	7273	broad.mit.edu	37	chr2	179486462	179486462	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatttttggtaaagacagctTcttcttctgcaagcattgaa	11	15	8	7	0	3	2	0	1	3	1	3	3	3	2	0	1	3	4	0	1	4	7			TCGA-CH-5768-01A-11D-1576-08	TCGA-CH-5768-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2aa9195-5cd4-4032-941e-90a1f724382c	5b3c1e73-475c-4b3b-a49a-0f11810c5223	g.chr2:179486462T>G	ENST00000591111.1	-	195	40390	c.40166A>C	c.(40165-40167)gAa>gCa	p.E13389A	TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E6157A|TTN_ENST00000359218.5_Missense_Mutation_p.E6090A|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E5965A|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000604956.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.E15030A|TTN_ENST00000342992.6_Missense_Mutation_p.E12462A			Q8WZ42	TITIN_HUMAN	titin	13389	Ig-like 90.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.E12462A(2)|p.E5965A(2)|p.E6157A(1)|p.E6090A(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AAAGACAGCTTCTTCTTCTGC	0.353																																						ENST00000589042.1																			6	Substitution - Missense(6)	p.E12462A(2)|p.E5965A(2)|p.E6157A(1)|p.E6090A(1)	prostate(6)	NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(45088-45090)gAa>gCa		titin							63	58	59					2																	179486462		1828	4087	5915	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179486462T>G	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.40166A>C	2.37:g.179486462T>G	ENSP00000465570:p.Glu13389Ala					TTN_ENST00000591111.1_Missense_Mutation_p.E13389A|TTN_ENST00000359218.5_Missense_Mutation_p.E6090A|TTN_ENST00000342175.6_Missense_Mutation_p.E6157A|TTN_ENST00000342992.6_Missense_Mutation_p.E12462A|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E5965A|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592630.1_RNA	p.E15030A	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		245	45313	-			13389			Fibronectin type-III 9.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.45089A>C		.	.	.	.	.	.	.	.	.	.	T	14.53	2.562605	0.45694	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.74209	-0.82;-0.82;-0.82;-0.82	5.96	5.96	0.96718	Immunoglobulin-like (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.85150	0.5631	M	0.69185	2.1	0.58432	D	0.999999	D;D;D;D	0.69078	0.997;0.997;0.997;0.997	D;D;D;D	0.77004	0.989;0.989;0.989;0.989	D	0.86544	0.1830	9	0.87932	D	0	.	16.4277	0.83824	0.0:0.0:0.0:1.0	.	5965;6090;6157;13389	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	A	12462;5965;6157;6090;5965	ENSP00000343764:E12462A;ENSP00000434586:E5965A;ENSP00000340554:E6157A;ENSP00000352154:E6090A	ENSP00000340554:E6157A	E	-	2	0	TTN	179194707	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.201000	0.72124	2.279000	0.76181	0.533000	0.62120	GAA		0.353	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		9	66	0	0	0	1	0	9	66					G	179486462	T	G	179486462	3	3	34	1	0	0	0	0	1	0	0	0	16732	1783	62	5	63076	5	TTN	2	179486462	Missense_Mutation	SNP	T	TCGA-CH-5768-01A-11D-1576-08	8808814	179486462	63712911	16	1680											
COL3A1	1281	broad.mit.edu	37	chr2	189874962	189874962	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gatgctatcaaggtattctgTaatatggaaactggggaaac	14	11	11	5	0	2	0	1	0	1	0	2	3	2	2	0	4	3	3	0	4	7	5			TCGA-CH-5768-01A-11D-1576-08	TCGA-CH-5768-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2aa9195-5cd4-4032-941e-90a1f724382c	5b3c1e73-475c-4b3b-a49a-0f11810c5223	g.chr2:189874962T>C	ENST00000304636.3	+	49	4052	c.3882T>C	c.(3880-3882)tgT>tgC	p.C1294C	COL3A1_ENST00000317840.5_Silent_p.C991C	NM_000090.3	NP_000081	P02461	CO3A1_HUMAN	collagen, type III, alpha 1	1294	Fibrillar collagen NC1. {ECO:0000255|PROSITE-ProRule:PRU00793}.				aging (GO:0007568)|axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell-matrix adhesion (GO:0007160)|cellular response to amino acid stimulus (GO:0071230)|cerebral cortex development (GO:0021987)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|digestive tract development (GO:0048565)|extracellular fibril organization (GO:0043206)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|integrin-mediated signaling pathway (GO:0007229)|negative regulation of immune response (GO:0050777)|negative regulation of neuron migration (GO:2001223)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|positive regulation of Rho protein signal transduction (GO:0035025)|response to cytokine (GO:0034097)|response to mechanical stimulus (GO:0009612)|response to radiation (GO:0009314)|skeletal system development (GO:0001501)|skin development (GO:0043588)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	collagen type III trimer (GO:0005586)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	extracellular matrix structural constituent (GO:0005201)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)	p.C1294C(1)		NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)	AGGTATTCTGTAATATGGAAA	0.403																																						ENST00000304636.3																			1	Substitution - coding silent(1)	p.C1294C(1)	prostate(1)	NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126						c.(3880-3882)tgT>tgC		collagen, type III, alpha 1	Collagenase(DB00048)|Palifermin(DB00039)						125	122	123					2																	189874962		2203	4300	6503	SO:0001819	synonymous_variant	1281				axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding	g.chr2:189874962T>C	X15332	CCDS2297.1	2q32.2	2014-09-17	2008-06-23		ENSG00000168542	ENSG00000168542		"Collagens"	2201	protein-coding gene	gene with protein product		120180	"Ehlers-Danlos syndrome type IV, autosomal dominant"	EDS4A		2780304, 2834369	Standard	NM_000090		Approved		uc002uqj.1	P02461	OTTHUMG00000132648	ENST00000304636.3:c.3882T>C	2.37:g.189874962T>C						COL3A1_ENST00000317840.5_Silent_p.C991C	p.C1294C	NM_000090.3	NP_000081.1	P02461	CO3A1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		49	4052	+			1294			Fibrillar collagen NC1.		D2JYH5|D3DPH4|P78429|Q15112|Q16403|Q53S91|Q541P8|Q6LDB3|Q6LDJ2|Q6LDJ3|Q7KZ56|Q8N6U4|Q9UC88|Q9UC89|Q9UC90|Q9UC91|R4N3C5|V9GZI1	Silent	SNP	ENST00000304636.3	37	c.3882T>C	CCDS2297.1																																																																																				0.403	COL3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255899.3	NM_000090		45	132	0	0	0	1	0	45	132					C	189874962	T	C	189874962	2	2	34	1	0	0	0	0	0	0	0	1	3688	1644	57	4		4	COL3A1	2	189874962	Silent	SNP	T	TCGA-CH-5768-01A-11D-1576-08	10388500	189874962	53324411	17	1681											
SPHKAP	80309	broad.mit.edu	37	chr2	228890232	228890232	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttttggaagatctggtgaaaCgttgaccagtttctgtaaag	11	14	11	5	1	2	3	0	2	2	1	2	4	2	4	1	2	1	3	1	2	4	5	rs531679897		TCGA-CH-5768-01A-11D-1576-08	TCGA-CH-5768-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2aa9195-5cd4-4032-941e-90a1f724382c	5b3c1e73-475c-4b3b-a49a-0f11810c5223	g.chr2:228890232C>T	ENST00000392056.3	-	5	365	c.319G>A	c.(319-321)Gtt>Att	p.V107I	SPHKAP_ENST00000344657.5_Missense_Mutation_p.V107I	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	107						extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|Z disc (GO:0030018)	protein kinase A binding (GO:0051018)	p.V107I(2)		NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		TCTGGTGAAACGTTGACCAGT	0.348													C|||	1	0.000199681	0	0	5008	,	,		17888	0		0	False		,,,				2504	0.001					ENST00000392056.3																			2	Substitution - Missense(2)	p.V107I(2)	prostate(2)	NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185						c.(319-321)Gtt>Att		SPHK1 interactor, AKAP domain containing							109	105	106					2																	228890232		2203	4300	6503	SO:0001583	missense	80309					cytoplasm	protein binding	g.chr2:228890232C>T		CCDS33389.1, CCDS46537.1	2q36.3	2010-08-20			ENSG00000153820	ENSG00000153820		"A-kinase anchor proteins"	30619	protein-coding gene	gene with protein product	"sphingosine kinase type 1-interacting protein"	611646				12080051, 11214970	Standard	NM_030623		Approved	SKIP	uc002vpq.2	Q2M3C7	OTTHUMG00000153584	ENST00000392056.3:c.319G>A	2.37:g.228890232C>T	ENSP00000375909:p.Val107Ile					SPHKAP_ENST00000344657.5_Missense_Mutation_p.V107I	p.V107I	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)	5	365	-		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)	107					Q68DA3|Q68DR8|Q9C0I5	Missense_Mutation	SNP	ENST00000392056.3	37	c.319G>A	CCDS46537.1	.	.	.	.	.	.	.	.	.	.	C	24.1	4.492271	0.84962	.	.	ENSG00000153820	ENST00000392056;ENST00000344657	T;T	0.18502	2.21;2.22	6.17	6.17	0.99709	.	0.056577	0.64402	D	0.000001	T	0.34454	0.0898	L	0.32530	0.975	0.52501	D	0.999951	D;D	0.89917	1.0;0.99	D;P	0.79108	0.992;0.704	T	0.00673	-1.1616	10	0.52906	T	0.07	.	19.8676	0.96824	0.0:1.0:0.0:0.0	.	107;107	Q2M3C7;Q2M3C7-2	SPKAP_HUMAN;.	I	107	ENSP00000375909:V107I;ENSP00000339886:V107I	ENSP00000339886:V107I	V	-	1	0	SPHKAP	228598476	0.981000	0.34729	0.976000	0.42696	0.854000	0.48673	2.544000	0.45761	2.941000	0.99782	0.655000	0.94253	GTT		0.348	SPHKAP-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331750.1	NM_030623		28	151	0	0	0	1	0	28	151					T	228890232	C	T	228890232	3	4	34	1	0	0	0	0	1	0	0	0	15047	536	19	1	4815	1	SPHKAP	2	228890232	Missense_Mutation	SNP	C	TCGA-CH-5768-01A-11D-1576-08	39015270	228890232	14309141	18	1682											
SEL1L3	23231	broad.mit.edu	37	chr4	25783976	25783976	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttaaccagtactttgctgctTtggcgtaatttttcttgaat	8	19	7	7	1	1	1	0	1	1	0	1	1	1	1	1	1	4	4	1	1	4	8			TCGA-CH-5768-01A-11D-1576-08	TCGA-CH-5768-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2aa9195-5cd4-4032-941e-90a1f724382c	5b3c1e73-475c-4b3b-a49a-0f11810c5223	g.chr4:25783976T>C	ENST00000399878.3	-	15	2467	c.2345A>G	c.(2344-2346)aAa>aGa	p.K782R	SEL1L3_ENST00000264868.5_Missense_Mutation_p.K747R|SEL1L3_ENST00000502949.1_Missense_Mutation_p.K629R	NM_015187.3	NP_056002.2	Q68CR1	SE1L3_HUMAN	sel-1 suppressor of lin-12-like 3 (C. elegans)	782						integral component of membrane (GO:0016021)		p.K782R(1)|p.K629R(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(2)	14						CTTTGCTGCTTTGGCGTAATT	0.418																																						ENST00000399878.3																			2	Substitution - Missense(2)	p.K782R(1)|p.K629R(1)	prostate(2)	breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(2)	14						c.(2344-2346)aAa>aGa		sel-1 suppressor of lin-12-like 3 (C. elegans)							183	166	172					4																	25783976		1860	4108	5968	SO:0001583	missense	23231					integral to membrane	binding	g.chr4:25783976T>C	BC009945	CCDS47037.1, CCDS75113.1	4p15.2	2009-09-24			ENSG00000091490	ENSG00000091490			29108	protein-coding gene	gene with protein product	"KIAA0746 protein"					9872452	Standard	XM_005248143		Approved	KIAA0746	uc003gru.4	Q68CR1	OTTHUMG00000160331	ENST00000399878.3:c.2345A>G	4.37:g.25783976T>C	ENSP00000382767:p.Lys782Arg					SEL1L3_ENST00000502949.1_Missense_Mutation_p.K629R|SEL1L3_ENST00000264868.5_Missense_Mutation_p.K747R	p.K782R	NM_015187.3	NP_056002.2	Q68CR1	SE1L3_HUMAN			15	2467	-			782					A0PJH6|A8K0X2|O94847|Q6P999|Q96G59	Missense_Mutation	SNP	ENST00000399878.3	37	c.2345A>G	CCDS47037.1	.	.	.	.	.	.	.	.	.	.	T	15.70	2.910077	0.52439	.	.	ENSG00000091490	ENST00000399878;ENST00000264868;ENST00000502949	T;T;T	0.56103	0.48;0.48;0.48	5.66	1.96	0.26148	Tetratricopeptide-like helical (1);	0.436111	0.27019	N	0.021325	T	0.48223	0.1488	N	0.19112	0.55	0.35032	D	0.758893	D;P	0.56287	0.975;0.926	P;P	0.57371	0.819;0.517	T	0.56727	-0.7931	10	0.49607	T	0.09	-7.6333	9.1858	0.37170	0.0:0.2047:0.0:0.7953	.	189;782	B4DTH5;Q68CR1	.;SE1L3_HUMAN	R	782;747;629	ENSP00000382767:K782R;ENSP00000264868:K747R;ENSP00000425438:K629R	ENSP00000264868:K747R	K	-	2	0	SEL1L3	25393074	1.000000	0.71417	0.936000	0.37596	0.777000	0.43975	2.994000	0.49433	0.116000	0.18110	-0.371000	0.07208	AAA		0.418	SEL1L3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360261.1	NM_015187		58	110	0	0	0	1	0	58	110					C	25783976	T	C	25783976	3	2	34	1	0	0	0	0	1	0	0	0	14012	1841	64	4	1093	4	SEL1L3	4	25783976	Missense_Mutation	SNP	T	TCGA-CH-5768-01A-11D-1576-08		25783976	165370300	19	1683											
PDZD2	23037	broad.mit.edu	37	chr5	32087621	32087621	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gcagagacagggagctccagGtaaccacagtaaggctctgg	12	5	14	10	0	1	1	0	0	1	1	2	3	2	2	2	4	2	5	2	4	2	2			TCGA-CH-5768-01A-11D-1576-08	TCGA-CH-5768-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2aa9195-5cd4-4032-941e-90a1f724382c	5b3c1e73-475c-4b3b-a49a-0f11810c5223	g.chr5:32087621G>A	ENST00000438447.1	+	20	4455	c.4067G>A	c.(4066-4068)gGt>gAt	p.G1356D	PDZD2_ENST00000282493.3_Missense_Mutation_p.G1356D			O15018	PDZD2_HUMAN	PDZ domain containing 2	1356					cell adhesion (GO:0007155)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|nucleus (GO:0005634)		p.G1356D(1)		NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						GGAGCTCCAGGTAACCACAGT	0.597																																						ENST00000438447.1																			1	Substitution - Missense(1)	p.G1356D(1)	prostate(1)	NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						c.(4066-4068)gGt>gAt		PDZ domain containing 2							35	38	37					5																	32087621		2203	4300	6503	SO:0001583	missense	23037				cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus		g.chr5:32087621G>A	AB002298	CCDS34137.1	5p14.1	2008-02-05	2006-01-24	2006-01-24		ENSG00000133401			18486	protein-coding gene	gene with protein product		610697	"PDZ domain containing 3"	PDZK3		9205841	Standard	XM_005248271		Approved	KIAA0300	uc003jhm.3	O15018		ENST00000438447.1:c.4067G>A	5.37:g.32087621G>A	ENSP00000402033:p.Gly1356Asp					PDZD2_ENST00000282493.3_Missense_Mutation_p.G1356D	p.G1356D			O15018	PDZD2_HUMAN			20	4455	+			1356					Q9BXD4	Missense_Mutation	SNP	ENST00000438447.1	37	c.4067G>A	CCDS34137.1	.	.	.	.	.	.	.	.	.	.	G	13.17	2.157316	0.38119	.	.	ENSG00000133401	ENST00000438447;ENST00000382161;ENST00000282493	T;T	0.05855	3.38;3.38	4.35	1.29	0.21616	.	0.782790	0.10883	N	0.623589	T	0.06416	0.0165	L	0.51422	1.61	0.09310	N	1	B	0.14805	0.011	B	0.15052	0.012	T	0.40175	-0.9577	10	0.25106	T	0.35	.	5.9566	0.19277	0.1061:0.379:0.5149:0.0	.	1356	O15018	PDZD2_HUMAN	D	1356;1157;1356	ENSP00000402033:G1356D;ENSP00000282493:G1356D	ENSP00000282493:G1356D	G	+	2	0	PDZD2	32123378	0.002000	0.14202	0.011000	0.14972	0.003000	0.03518	0.258000	0.18387	0.561000	0.29186	0.655000	0.94253	GGT		0.597	PDZD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366608.1			4	29	0	0	0	1	0	4	29					A	32087621	G	A	32087621	3	1	34	1	0	0	0	0	1	0	0	0	11701	1261	44	3	4141	3	PDZD2	5	32087621	Missense_Mutation	SNP	G	TCGA-CH-5768-01A-11D-1576-08		32087621	148827639	20	1684											
SLC27A6	28965	broad.mit.edu	37	chr5	128362928	128362928	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	caaattgctttgtgatgtttTtaagaagggagatgtttacc	11	16	10	4	0	0	3	0	1	0	2	0	4	0	3	1	1	2	3	1	1	4	7			TCGA-CH-5768-01A-11D-1576-08	TCGA-CH-5768-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2aa9195-5cd4-4032-941e-90a1f724382c	5b3c1e73-475c-4b3b-a49a-0f11810c5223	g.chr5:128362928T>A	ENST00000262462.4	+	7	2368	c.1358T>A	c.(1357-1359)tTt>tAt	p.F453Y	SLC27A6_ENST00000395266.1_Missense_Mutation_p.F453Y|SLC27A6_ENST00000506176.1_Missense_Mutation_p.F453Y			Q9Y2P4	S27A6_HUMAN	solute carrier family 27 (fatty acid transporter), member 6	453					long-chain fatty acid metabolic process (GO:0001676)|long-chain fatty acid transport (GO:0015909)|transmembrane transport (GO:0055085)|very long-chain fatty acid metabolic process (GO:0000038)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	long-chain fatty acid-CoA ligase activity (GO:0004467)|nucleotide binding (GO:0000166)|very long-chain fatty acid-CoA ligase activity (GO:0031957)	p.F453Y(1)		NS(2)|endometrium(1)|kidney(3)|large_intestine(11)|liver(1)|lung(20)|prostate(1)|skin(4)|stomach(1)	44		all_cancers(142;0.0483)|Prostate(80;0.055)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Epithelial(69;0.171)|OV - Ovarian serous cystadenocarcinoma(64;0.186)		TGTGATGTTTTTAAGAAGGGA	0.393																																						ENST00000262462.4																			1	Substitution - Missense(1)	p.F453Y(1)	prostate(1)	NS(2)|endometrium(1)|kidney(3)|large_intestine(11)|liver(1)|lung(20)|prostate(1)|skin(4)|stomach(1)	44						c.(1357-1359)tTt>tAt		solute carrier family 27 (fatty acid transporter), member 6							122	116	118					5																	128362928		2203	4300	6503	SO:0001583	missense	28965				long-chain fatty acid transport|transmembrane transport|very long-chain fatty acid metabolic process	integral to membrane|sarcolemma	fatty acid transporter activity|long-chain fatty acid-CoA ligase activity|nucleotide binding	g.chr5:128362928T>A	AF064254	CCDS4145.1	5q23.3	2013-05-22			ENSG00000113396	ENSG00000113396		"Acyl-CoA synthetase family", "Solute carriers"	11000	protein-coding gene	gene with protein product	"fatty-acid-Coenzyme A ligase, very long-chain 2"	604196				12556534, 10479480	Standard	XM_005271967		Approved	FATP6, VLCS-H1, FACVL2, ACSVL2	uc003kuy.3	Q9Y2P4	OTTHUMG00000128991	ENST00000262462.4:c.1358T>A	5.37:g.128362928T>A	ENSP00000262462:p.Phe453Tyr					SLC27A6_ENST00000395266.1_Missense_Mutation_p.F453Y|SLC27A6_ENST00000506176.1_Missense_Mutation_p.F453Y	p.F453Y			Q9Y2P4	S27A6_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Epithelial(69;0.171)|OV - Ovarian serous cystadenocarcinoma(64;0.186)	7	2368	+		all_cancers(142;0.0483)|Prostate(80;0.055)	453					Q6IAM5|Q7Z6E6|Q86YF6	Missense_Mutation	SNP	ENST00000262462.4	37	c.1358T>A	CCDS4145.1	.	.	.	.	.	.	.	.	.	.	T	21.8	4.206002	0.79127	.	.	ENSG00000113396	ENST00000262462;ENST00000395266;ENST00000506176	T;T;T	0.60672	0.17;0.17;0.17	4.53	4.53	0.55603	AMP-dependent synthetase/ligase (1);	0.096470	0.64402	D	0.000001	T	0.80788	0.4690	M	0.92367	3.3	0.49213	D	0.999764	D	0.71674	0.998	D	0.77004	0.989	D	0.85814	0.1381	9	.	.	.	-11.6236	14.928	0.70893	0.0:0.0:0.0:1.0	.	453	Q9Y2P4	S27A6_HUMAN	Y	453	ENSP00000262462:F453Y;ENSP00000378684:F453Y;ENSP00000421024:F453Y	.	F	+	2	0	SLC27A6	128390827	1.000000	0.71417	0.963000	0.40424	0.725000	0.41563	7.457000	0.80775	2.267000	0.75376	0.383000	0.25322	TTT		0.393	SLC27A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250980.1	NM_014031		96	222	0	0	0	1	0	96	222					A	128362928	T	A	128362928	3	1	34	1	0	0	0	0	1	0	0	0	14530	1841	64	5	1384	5	SLC27A6	5	128362928	Missense_Mutation	SNP	T	TCGA-CH-5768-01A-11D-1576-08	96275307	128362928	52552332	21	1685											
ACSL6	23305	broad.mit.edu	37	chr5	131308476	131308476	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	attcctgatgattccactccGgacctcggcttgcttacgct	6	13	8	14	3	0	2	0	2	0	0	4	3	3	3	4	2	2	3	4	2	1	4			TCGA-CH-5768-01A-11D-1576-08	TCGA-CH-5768-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2aa9195-5cd4-4032-941e-90a1f724382c	5b3c1e73-475c-4b3b-a49a-0f11810c5223	g.chr5:131308476G>A	ENST00000379240.1	-	13	1357	c.1204C>T	c.(1204-1206)Cgg>Tgg	p.R402W	ACSL6_ENST00000379246.1_Missense_Mutation_p.R413W|ACSL6_ENST00000543479.1_Missense_Mutation_p.R402W|ACSL6_ENST00000357096.1_Missense_Mutation_p.R327W|ACSL6_ENST00000379255.1_Missense_Mutation_p.R327W|ACSL6_ENST00000379272.2_Missense_Mutation_p.R417W|ACSL6_ENST00000431707.1_Missense_Mutation_p.R382W|ACSL6_ENST00000544770.1_Missense_Mutation_p.R311W|ACSL6_ENST00000379244.1_Missense_Mutation_p.R402W|ACSL6_ENST00000379264.2_Missense_Mutation_p.R427W|ACSL6_ENST00000296869.4_Missense_Mutation_p.R427W|ACSL6_ENST00000379249.3_Missense_Mutation_p.R402W			Q9UKU0	ACSL6_HUMAN	acyl-CoA synthetase long-chain family member 6	402					acyl-CoA metabolic process (GO:0006637)|cellular lipid metabolic process (GO:0044255)|cellular response to insulin stimulus (GO:0032869)|fatty acid transport (GO:0015908)|long-chain fatty acid metabolic process (GO:0001676)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|neuroblast proliferation (GO:0007405)|neuron development (GO:0048666)|phospholipid biosynthetic process (GO:0008654)|positive regulation of neuron projection development (GO:0010976)|positive regulation of plasma membrane long-chain fatty acid transport (GO:0010747)|positive regulation of triglyceride biosynthetic process (GO:0010867)|response to gravity (GO:0009629)|response to hypoxia (GO:0001666)|response to nutrient (GO:0007584)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|nucleus (GO:0005634)|peroxisome (GO:0005777)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|long-chain fatty acid-CoA ligase activity (GO:0004467)|protein homodimerization activity (GO:0042803)			NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	35		all_cancers(142;0.107)|Breast(839;0.198)|Lung NSC(810;0.216)|all_lung(232;0.248)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			ATTCCACTCCGGACCTCGGCT	0.438																																						ENST00000379264.2																			0				NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	35						c.(1279-1281)Cgg>Tgg		acyl-CoA synthetase long-chain family member 6							95	95	95					5																	131308476		2203	4300	6503	SO:0001583	missense	23305				fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane|plasma membrane	ATP binding|long-chain fatty acid-CoA ligase activity	g.chr5:131308476G>A	AB020644	CCDS34228.1, CCDS34229.1, CCDS56381.1, CCDS56382.1, CCDS56383.1	5q31	2008-02-05	2004-02-19	2004-02-20	ENSG00000164398	ENSG00000164398		"Acyl-CoA synthetase family"	16496	protein-coding gene	gene with protein product		604443	"fatty-acid-Coenzyme A ligase, long-chain 6"	FACL6		10502316, 10548543	Standard	NM_015256		Approved	KIAA0837, ACS2, LACS5, LACS2	uc003kvy.2	Q9UKU0	OTTHUMG00000150692	ENST00000379240.1:c.1204C>T	5.37:g.131308476G>A	ENSP00000368542:p.Arg402Trp					ACSL6_ENST00000544770.1_Missense_Mutation_p.R311W|ACSL6_ENST00000543479.1_Missense_Mutation_p.R402W|ACSL6_ENST00000379244.1_Missense_Mutation_p.R402W|ACSL6_ENST00000357096.1_Missense_Mutation_p.R327W|ACSL6_ENST00000379240.1_Missense_Mutation_p.R402W|ACSL6_ENST00000431707.1_Missense_Mutation_p.R382W|ACSL6_ENST00000379255.1_Missense_Mutation_p.R327W|ACSL6_ENST00000379249.3_Missense_Mutation_p.R402W|ACSL6_ENST00000379272.2_Missense_Mutation_p.R417W|ACSL6_ENST00000379246.1_Missense_Mutation_p.R413W|ACSL6_ENST00000296869.4_Missense_Mutation_p.R427W	p.R427W	NM_001009185.2	NP_001009185.1	Q9UKU0	ACSL6_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		13	1387	-		all_cancers(142;0.107)|Breast(839;0.198)|Lung NSC(810;0.216)|all_lung(232;0.248)	402					J3KPG3|O94924|O95829|Q108M9|Q108N0|Q4G191|Q86TN7	Missense_Mutation	SNP	ENST00000379240.1	37	c.1279C>T		.	.	.	.	.	.	.	.	.	.	G	17.95	3.513331	0.64522	.	.	ENSG00000164398	ENST00000379249;ENST00000379264;ENST00000379272;ENST00000357096;ENST00000379255;ENST00000296869;ENST00000379246;ENST00000379244;ENST00000544770;ENST00000379240;ENST00000431707;ENST00000543479	T;T;T;T;T;T;T;T;T;T;T;T	0.24723	1.84;1.84;1.84;1.84;1.84;1.84;1.84;1.84;1.84;1.84;1.84;1.84	6.04	6.04	0.98038	AMP-dependent synthetase/ligase (1);	0.143269	0.64402	D	0.000006	T	0.50633	0.1627	M	0.79693	2.465	0.48975	D	0.999731	P;D;D;P;D;D;D	0.64830	0.943;0.992;0.994;0.954;0.971;0.992;0.992	P;P;P;P;P;P;P	0.55011	0.655;0.655;0.67;0.766;0.54;0.655;0.655	T	0.51340	-0.8718	10	0.66056	D	0.02	.	20.6437	0.99549	0.0:0.0:1.0:0.0	.	402;417;392;402;327;427;427	Q9UKU0-3;Q9UKU0-6;B4DFW3;Q9UKU0;Q9UKU0-7;Q9UKU0-1;Q9UKU0-8	.;.;.;ACSL6_HUMAN;.;.;.	W	402;427;417;327;327;427;413;402;311;402;382;402	ENSP00000368551:R402W;ENSP00000368566:R427W;ENSP00000368574:R417W;ENSP00000349608:R327W;ENSP00000368557:R327W;ENSP00000296869:R427W;ENSP00000368548:R413W;ENSP00000368546:R402W;ENSP00000445154:R311W;ENSP00000368542:R402W;ENSP00000413329:R382W;ENSP00000442124:R402W	ENSP00000296869:R427W	R	-	1	2	ACSL6	131336375	1.000000	0.71417	0.862000	0.33874	0.002000	0.02628	6.075000	0.71261	2.890000	0.99128	0.650000	0.86243	CGG		0.438	ACSL6-004	NOVEL	basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000132622.1	NM_015256		4	183	0	0	0	1	0	4	183					A	131308476	G	A	131308476	3	1	34	1	0	0	0	0	1	0	0	0	181	1115	39	2	925	2	ACSL6	5	131308476	Missense_Mutation	SNP	G	TCGA-CH-5768-01A-11D-1576-08	2945548	131308476	49606784	22	1686											
FBXW11	23291	broad.mit.edu	37	chr5	171299983	171299983	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgaacaaattcacaggtgctCgtgctccagacctgtataac	12	9	8	12	2	1	1	1	0	0	1	3	2	2	1	2	1	4	3	2	1	4	3			TCGA-CH-5768-01A-11D-1576-08	TCGA-CH-5768-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2aa9195-5cd4-4032-941e-90a1f724382c	5b3c1e73-475c-4b3b-a49a-0f11810c5223	g.chr5:171299983C>A	ENST00000265094.5	-	9	1307	c.1170G>T	c.(1168-1170)acG>acT	p.T390T	FBXW11_ENST00000296933.6_Silent_p.T377T|FBXW11_ENST00000425623.2_Silent_p.T358T|FBXW11_ENST00000393802.2_Silent_p.T356T	NM_012300.2	NP_036432.2	Q9UKB1	FBW1B_HUMAN	F-box and WD repeat domain containing 11	390					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of circadian rhythm (GO:0042753)|positive regulation of proteolysis (GO:0045862)|positive regulation of transcription, DNA-templated (GO:0045893)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein dephosphorylation (GO:0006470)|protein destabilization (GO:0031648)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|rhythmic process (GO:0048511)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|Wnt signaling pathway (GO:0016055)	centrosome (GO:0005813)|cytosol (GO:0005829)|nucleus (GO:0005634)|SCF ubiquitin ligase complex (GO:0019005)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)	p.T390T(1)|p.T377T(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|prostate(2)|urinary_tract(2)	21	Renal(175;0.000159)|Lung NSC(126;0.00384)|all_lung(126;0.00659)	Medulloblastoma(196;0.00853)|all_neural(177;0.026)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			CACAGGTGCTCGTGCTCCAGA	0.418																																						ENST00000296933.6																			2	Substitution - coding silent(2)	p.T390T(1)|p.T377T(1)	prostate(2)	breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|prostate(2)|urinary_tract(2)	21						c.(1129-1131)acG>acT		F-box and WD repeat domain containing 11							70	62	65					5																	171299983		2203	4300	6503	SO:0001819	synonymous_variant	23291				cell cycle|negative regulation of transcription, DNA-dependent|positive regulation of circadian rhythm|positive regulation of proteolysis|positive regulation of transcription, DNA-dependent|protein dephosphorylation|protein destabilization|protein polyubiquitination|rhythmic process|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway	centrosome|cytosol|nucleus|SCF ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity	g.chr5:171299983C>A	AB014596	CCDS34289.1, CCDS47340.1, CCDS47341.1	5q35.1	2013-01-09	2007-02-08	2004-06-16	ENSG00000072803	ENSG00000072803		"F-boxes / WD-40 domains", "WD repeat domain containing"	13607	protein-coding gene	gene with protein product		605651	"F-box and WD-40 domain protein 1B", "F-box and WD-40 domain protein 11"	FBXW1B		10531035, 10694485	Standard	NM_033644		Approved	KIAA0696, Fbw1b, BTRCP2, BTRC2, Hos, Fbw11	uc003mbm.1	Q9UKB1	OTTHUMG00000163267	ENST00000265094.5:c.1170G>T	5.37:g.171299983C>A						FBXW11_ENST00000265094.5_Silent_p.T390T|FBXW11_ENST00000425623.2_Silent_p.T358T|FBXW11_ENST00000393802.2_Silent_p.T356T	p.T377T	NM_033644.2|NM_033645.2	NP_387448.2|NP_387449.2	Q9UKB1	FBW1B_HUMAN	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)		9	1501	-	Renal(175;0.000159)|Lung NSC(126;0.00384)|all_lung(126;0.00659)	Medulloblastoma(196;0.00853)|all_neural(177;0.026)	390					B2RC98|Q9P2S8|Q9P2S9|Q9Y4C6	Silent	SNP	ENST00000265094.5	37	c.1131G>T	CCDS34289.1																																																																																				0.418	FBXW11-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000372382.1	NM_012300		3	73	1	0	1	1	1	3	73					A	171299983	C	A	171299983	2	1	34	1	0	0	0	0	0	0	0	1	5764	871	31	5		5	FBXW11	5	171299983	Silent	SNP	C	TCGA-CH-5768-01A-11D-1576-08	39991507	171299983	9615277	23	1687											
BTNL3	10917	broad.mit.edu	37	chr5	180432367	180432367	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggatccagagacggctcaccCgaagctctgcgtttctgatc	8	9	11	13	3	3	2	1	1	2	1	5	5	4	3	2	2	2	3	2	2	1	1	rs200172568	byFrequency	TCGA-CH-5768-01A-11D-1576-08	TCGA-CH-5768-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2aa9195-5cd4-4032-941e-90a1f724382c	5b3c1e73-475c-4b3b-a49a-0f11810c5223	g.chr5:180432367C>T	ENST00000342868.6	+	8	1080	c.896C>T	c.(895-897)cCg>cTg	p.P299L	RNU6-1036P_ENST00000383959.1_RNA	NM_197975.2	NP_932079.1	Q6UXE8	BTNL3_HUMAN	butyrophilin-like 3	299	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.					integral component of membrane (GO:0016021)		p.P299L(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(1)|lung(10)|prostate(2)|skin(1)	25	all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.00336)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)|all_lung(500;0.248)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000272)			ACGGCTCACCCGAAGCTCTGC	0.537																																						ENST00000342868.6																			1	Substitution - Missense(1)	p.P299L(1)	prostate(1)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(1)|lung(10)|prostate(2)|skin(1)	25						c.(895-897)cCg>cTg		butyrophilin-like 3							38	45	43					5																	180432367		2200	4276	6476	SO:0001583	missense	10917				lipid metabolic process	integral to membrane		g.chr5:180432367C>T	AB020625	CCDS47358.1	5q35	2014-01-14			ENSG00000168903	ENSG00000168903		"Immunoglobulin superfamily / V-set domain containing", "Butyrophilins"	1143	protein-coding gene	gene with protein product	"butyrophilin-like receptor"	606192				10429365	Standard	NM_197975		Approved	BTNLR, BTN9.1	uc003mmr.3	Q6UXE8	OTTHUMG00000162091	ENST00000342868.6:c.896C>T	5.37:g.180432367C>T	ENSP00000341787:p.Pro299Leu						p.P299L	NM_197975.2	NP_932079.1	Q6UXE8	BTNL3_HUMAN	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000272)		8	1080	+	all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.00336)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)|all_lung(500;0.248)	299			B30.2/SPRY.		Q496L7|Q9Y2C7	Missense_Mutation	SNP	ENST00000342868.6	37	c.896C>T	CCDS47358.1	.	.	.	.	.	.	.	.	.	.	C	13.61	2.289877	0.40494	.	.	ENSG00000168903	ENST00000342868;ENST00000376852	T	0.14640	2.49	2.55	-2.57	0.06248	Concanavalin A-like lectin/glucanase (1);SPRY-associated (1);Butyrophylin-like (1);B30.2/SPRY domain (1);	.	.	.	.	T	0.27313	0.0670	M	0.66378	2.025	0.09310	N	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.991;0.999	T	0.12915	-1.0529	9	0.62326	D	0.03	.	4.6143	0.12418	0.0:0.5887:0.1801:0.2311	.	265;299	C9JDC2;Q6UXE8	.;BTNL3_HUMAN	L	299;265	ENSP00000341787:P299L	ENSP00000341787:P299L	P	+	2	0	BTNL3	180364973	0.003000	0.15002	0.000000	0.03702	0.019000	0.09904	0.776000	0.26704	-0.286000	0.09076	0.184000	0.17185	CCG		0.537	BTNL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367176.2	NM_197975		42	101	0	0	0	1	0	42	101					T	180432367	C	T	180432367	3	4	34	1	0	0	0	0	1	0	0	0	1566	652	23	2	926	2	BTNL3	5	180432367	Missense_Mutation	SNP	C	TCGA-CH-5768-01A-11D-1576-08	9132384	180432367	482893	24	1688											
TNXB	7148	broad.mit.edu	37	chr6	32053832	32053832	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggagcctgggccccttgcGtcgtcgaggggcctgaggga	5	6	19	11	3	0	1	0	1	0	0	2	5	0	3	4	5	2	0	4	5	0	1			TCGA-CH-5768-01A-11D-1576-08	TCGA-CH-5768-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2aa9195-5cd4-4032-941e-90a1f724382c	5b3c1e73-475c-4b3b-a49a-0f11810c5223	g.chr6:32053832G>A	ENST00000375244.3	-	7	3044	c.2843C>T	c.(2842-2844)aCg>aTg	p.T948M	TNXB_ENST00000375247.2_Missense_Mutation_p.T948M			P22105	TENX_HUMAN	tenascin XB	1035	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				actin cytoskeleton organization (GO:0030036)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|collagen fibril organization (GO:0030199)|collagen metabolic process (GO:0032963)|elastic fiber assembly (GO:0048251)|extracellular fibril organization (GO:0043206)|fatty acid metabolic process (GO:0006631)|regulation of JUN kinase activity (GO:0043506)|single organismal cell-cell adhesion (GO:0016337)|triglyceride metabolic process (GO:0006641)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)	p.T1035M(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						GGCCCCTTGCGTCGTCGAGGG	0.662																																						ENST00000375244.3																			1	Substitution - Missense(1)	p.T1035M(1)	prostate(1)	endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						c.(2842-2844)aCg>aTg		tenascin XB							12	14	13					6																	32053832		1190	2512	3702	SO:0001583	missense	7148				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding	g.chr6:32053832G>A	X71923	CCDS4736.1	6p21.3	2013-02-11			ENSG00000168477	ENSG00000168477		"Fibrinogen C domain containing", "Fibronectin type III domain containing"	11976	protein-coding gene	gene with protein product		600985		TNXB1, TNXB2		8530023	Standard	NM_019105		Approved	TNXBS, XBS, XB	uc021yvf.2	P22105	OTTHUMG00000031088	ENST00000375244.3:c.2843C>T	6.37:g.32053832G>A	ENSP00000364393:p.Thr948Met					TNXB_ENST00000375247.2_Missense_Mutation_p.T948M	p.T948M			P22105	TENX_HUMAN			7	3044	-			1035			Fibronectin type-III 2.		P78530|P78531|Q08424|Q08AM0|Q08AM1|Q59GU7|Q5SQD3|Q5ST74|Q7L8Q4|Q8N4R1|Q9NPK9|Q9UC10|Q9UC11|Q9UC12|Q9UC13|Q9UMG7	Missense_Mutation	SNP	ENST00000375244.3	37	c.2843C>T		.	.	.	.	.	.	.	.	.	.	G	16.99	3.274910	0.59649	.	.	ENSG00000168477	ENST00000375244;ENST00000375247	T;T	0.56444	0.62;0.46	3.82	3.82	0.43975	.	0.000000	0.47852	D	0.000219	T	0.46132	0.1377	L	0.27053	0.805	0.31956	N	0.608996	D	0.89917	1.0	D	0.91635	0.999	T	0.47586	-0.9106	10	0.52906	T	0.07	.	11.1378	0.48386	0.0:0.0:1.0:0.0	.	948	P22105-3	.	M	948	ENSP00000364393:T948M;ENSP00000364396:T948M	ENSP00000364393:T948M	T	-	2	0	TNXB	32161810	1.000000	0.71417	0.749000	0.31150	0.883000	0.51084	4.631000	0.61304	1.980000	0.57719	0.558000	0.71614	ACG		0.662	TNXB-001	PUTATIVE	not_organism_supported|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000268927.2	NM_019105		4	5	0	0	0	1	0	4	5					A	32053832	G	A	32053832	3	1	34	1	0	0	0	0	1	0	0	0	16343	1145	40	1	12022	1	TNXB	6	32053832	Missense_Mutation	SNP	G	TCGA-CH-5768-01A-11D-1576-08		32053832	139061235	25	1689											
GABRR2	2570	broad.mit.edu	37	chr6	89974189	89974189	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tggtcaggtagttgacagccGcatactccagcaccgagagg	10	7	13	11	2	1	2	1	1	0	1	2	3	2	2	3	3	3	4	3	3	2	3	rs149245573		TCGA-CH-5768-01A-11D-1576-08	TCGA-CH-5768-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2aa9195-5cd4-4032-941e-90a1f724382c	5b3c1e73-475c-4b3b-a49a-0f11810c5223	g.chr6:89974189G>A	ENST00000402938.3	-	8	1161	c.1028C>T	c.(1027-1029)gCg>gTg	p.A343V	GABRR2_ENST00000602399.1_Missense_Mutation_p.A368V	NM_002043.3	NP_002034.3	P28476	GBRR2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, rho 2	343					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)	p.A343V(3)		central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(10)|prostate(2)|urinary_tract(1)	21		all_cancers(76;1.67e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.77e-07)|all_epithelial(107;2.51e-05)|Lung NSC(302;0.238)		BRCA - Breast invasive adenocarcinoma(108;0.0158)	Adinazolam(DB00546)|Bromazepam(DB01558)|Cinolazepam(DB01594)|Clotiazepam(DB01559)|Diazepam(DB00829)|Estazolam(DB01215)|Fludiazepam(DB01567)|Flurazepam(DB00690)|Halazepam(DB00801)|Midazolam(DB00683)|Nitrazepam(DB01595)|Oxazepam(DB00842)|Prazepam(DB01588)|Quazepam(DB01589)|Temazepam(DB00231)|Triazolam(DB00897)	GTTGACAGCCGCATACTCCAG	0.597													G|||	1	0.000199681	0	0	5008	,	,		20743	0		0.001	False		,,,				2504	0					ENST00000402938.3																			3	Substitution - Missense(3)	p.A343V(3)	prostate(2)|lung(1)	central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(10)|prostate(2)|urinary_tract(1)	21						c.(1027-1029)gCg>gTg		gamma-aminobutyric acid (GABA) A receptor, rho 2							116	88	97					6																	89974189		2203	4300	6503	SO:0001583	missense	2570				synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chr6:89974189G>A		CCDS5020.2, CCDS5020.3	6q15	2012-06-22	2012-02-03		ENSG00000111886	ENSG00000111886		"GABA receptors", "Ligand-gated ion channels / GABA(A) receptors"	4091	protein-coding gene	gene with protein product	"GABA(A) receptor, rho 2"	137162	"gamma-aminobutyric acid (GABA) receptor, rho 2"			1315307	Standard	NM_002043		Approved		uc003pnb.3	P28476	OTTHUMG00000015198	ENST00000402938.3:c.1028C>T	6.37:g.89974189G>A	ENSP00000386029:p.Ala343Val					GABRR2_ENST00000602399.1_Missense_Mutation_p.A368V	p.A343V			P28476	GBRR2_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0158)	8	1161	-		all_cancers(76;1.67e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.77e-07)|all_epithelial(107;2.51e-05)|Lung NSC(302;0.238)	368					A2BDE4|Q9H153	Missense_Mutation	SNP	ENST00000402938.3	37	c.1028C>T	CCDS5020.3	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	36	5.780845	0.96929	.	.	ENSG00000111886	ENST00000402938	.	.	.	5.93	5.93	0.95920	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.000000	0.85682	D	0.000000	T	0.82015	0.4945	M	0.82323	2.585	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.81116	-0.1079	8	.	.	.	.	20.3437	0.98782	0.0:0.0:1.0:0.0	.	368	P28476	GBRR2_HUMAN	V	368	.	.	A	-	2	0	GABRR2	90030908	1.000000	0.71417	0.997000	0.53966	0.965000	0.64279	9.869000	0.99810	2.815000	0.96918	0.561000	0.74099	GCG		0.597	GABRR2-001	KNOWN	upstream_ATG|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000041482.3			3	62	0	0	0	1	0	3	62					A	89974189	G	A	89974189	3	1	34	1	0	0	0	0	1	0	0	0	6177	1087	38	1	377	1	GABRR2	6	89974189	Missense_Mutation	SNP	G	TCGA-CH-5768-01A-11D-1576-08	57920357	89974189	81140878	26	1690											
DPY19L1	23333	broad.mit.edu	37	chr7	34981489	34981489	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctaacaattgcaatgcatggTaaaccagctgaaagaaagaa	19	7	8	7	0	0	3	0	1	0	2	0	3	0	3	1	1	5	4	1	1	8	3			TCGA-CH-5768-01A-11D-1576-08	TCGA-CH-5768-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2aa9195-5cd4-4032-941e-90a1f724382c	5b3c1e73-475c-4b3b-a49a-0f11810c5223	g.chr7:34981489T>A	ENST00000310974.4	-	18	1502	c.1358A>T	c.(1357-1359)tAc>tTc	p.Y453F	MIR548N_ENST00000408742.1_RNA	NM_015283.1	NP_056098.1	Q2PZI1	D19L1_HUMAN	dpy-19-like 1 (C. elegans)	453						integral component of membrane (GO:0016021)|membrane (GO:0016020)	transferase activity, transferring glycosyl groups (GO:0016757)	p.Y453F(1)		endometrium(3)|kidney(5)|large_intestine(8)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	31						CAATGCATGGTAAACCAGCTG	0.363																																						ENST00000310974.4																			1	Substitution - Missense(1)	p.Y453F(1)	prostate(1)	endometrium(3)|kidney(5)|large_intestine(8)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	31						c.(1357-1359)tAc>tTc		dpy-19-like 1 (C. elegans)							50	50	50					7																	34981489		1802	4060	5862	SO:0001583	missense	23333					integral to membrane		g.chr7:34981489T>A	AB020684	CCDS43567.1	7p14.3-p14.2	2006-04-26			ENSG00000173852	ENSG00000173852			22205	protein-coding gene	gene with protein product		613892					Standard	NM_015283		Approved	KIAA0877	uc003tem.4	Q2PZI1	OTTHUMG00000154888	ENST00000310974.4:c.1358A>T	7.37:g.34981489T>A	ENSP00000308695:p.Tyr453Phe						p.Y453F	NM_015283.1	NP_056098.1	Q2PZI1	D19L1_HUMAN			18	1502	-			453					O94954|Q4G151	Missense_Mutation	SNP	ENST00000310974.4	37	c.1358A>T	CCDS43567.1	.	.	.	.	.	.	.	.	.	.	T	12.73	2.026205	0.35701	.	.	ENSG00000173852	ENST00000310974	T	0.66460	-0.21	5.14	5.14	0.70334	.	0.120414	0.64402	D	0.000018	T	0.51024	0.1650	N	0.21545	0.675	0.53688	D	0.999975	B	0.28605	0.217	B	0.30855	0.121	T	0.48490	-0.9031	10	0.24483	T	0.36	-14.3475	10.9237	0.47180	0.1401:0.0:0.0:0.8599	.	453	Q2PZI1	D19L1_HUMAN	F	453	ENSP00000308695:Y453F	ENSP00000308695:Y453F	Y	-	2	0	DPY19L1	34948014	1.000000	0.71417	0.978000	0.43139	0.831000	0.47069	4.040000	0.57333	2.072000	0.62099	0.472000	0.43445	TAC		0.363	DPY19L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337506.1			6	203	0	0	0	1	0	6	203					A	34981489	T	A	34981489	3	1	34	1	0	0	0	0	1	0	0	0	4740	1638	57	5	689	5	DPY19L1	7	34981489	Missense_Mutation	SNP	T	TCGA-CH-5768-01A-11D-1576-08		34981489	124157174	27	1691											
WBSCR17	64409	broad.mit.edu	37	chr7	71130409	71130409	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cccctaggtatggctctgtgGgggcagcatggaggtccttc	5	10	15	11	0	1	0	0	0	1	0	3	1	2	1	3	6	1	4	3	6	2	3			TCGA-CH-5768-01A-11D-1576-08	TCGA-CH-5768-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2aa9195-5cd4-4032-941e-90a1f724382c	5b3c1e73-475c-4b3b-a49a-0f11810c5223	g.chr7:71130409G>A	ENST00000333538.5	+	7	1728	c.1094G>A	c.(1093-1095)gGg>gAg	p.G365E	WBSCR17_ENST00000498380.2_3'UTR	NM_022479.1	NP_071924.1	Q6IS24	GLTL3_HUMAN	Williams-Beuren syndrome chromosome region 17	365	Catalytic subdomain B.				protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)	p.G365E(1)		NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	100		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)				TGGCTCTGTGGGGGCAGCATG	0.512																																						ENST00000333538.5																			1	Substitution - Missense(1)	p.G365E(1)	prostate(1)	NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	100						c.(1093-1095)gGg>gAg		Williams-Beuren syndrome chromosome region 17							99	103	101					7																	71130409		2203	4300	6503	SO:0001583	missense	64409					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr7:71130409G>A	AF410457	CCDS5540.1	7q11.23	2014-03-13			ENSG00000185274	ENSG00000185274		"Glycosyltransferase family 2 domain containing"	16347	protein-coding gene	gene with protein product	"polypeptide N-acetylgalactosaminyltransferase-like 3", "polypeptide GalNAc transferase 3"	615137				12073013, 15744064, 22787146	Standard	NM_022479		Approved	GALNTL3, GalNAc-T5L	uc003tvy.4	Q6IS24	OTTHUMG00000129783	ENST00000333538.5:c.1094G>A	7.37:g.71130409G>A	ENSP00000329654:p.Gly365Glu					WBSCR17_ENST00000498380.2_3'UTR	p.G365E	NM_022479.1	NP_071924.1	Q6IS24	GLTL3_HUMAN			7	1728	+		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)	365			Catalytic subdomain B.		Q8NFV9|Q9NTA8	Missense_Mutation	SNP	ENST00000333538.5	37	c.1094G>A	CCDS5540.1	.	.	.	.	.	.	.	.	.	.	G	29.5	5.010652	0.93346	.	.	ENSG00000185274	ENST00000333538	T	0.75589	-0.95	5.85	5.85	0.93711	.	0.000000	0.85682	D	0.000000	D	0.90521	0.7030	H	0.94385	3.53	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	D	0.92439	0.5960	10	0.87932	D	0	.	19.147	0.93472	0.0:0.0:1.0:0.0	.	365	Q6IS24	GLTL3_HUMAN	E	365	ENSP00000329654:G365E	ENSP00000329654:G365E	G	+	2	0	WBSCR17	70768345	1.000000	0.71417	0.998000	0.56505	0.963000	0.63663	9.869000	0.99810	2.770000	0.95276	0.563000	0.77884	GGG		0.512	WBSCR17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252006.1	NM_022479		15	212	0	0	0	1	0	15	212					A	71130409	G	A	71130409	3	1	34	1	0	0	0	0	1	0	0	0	17261	1232	43	3	1120	3	WBSCR17	7	71130409	Missense_Mutation	SNP	G	TCGA-CH-5768-01A-11D-1576-08	36148920	71130409	88008254	28	1692											
FZD1	8321	broad.mit.edu	37	chr7	90895231	90895231	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttacgtacctggtggacatgCggcgcttcagctacccggag	7	9	13	12	4	1	0	1	0	0	0	1	2	1	2	2	4	5	3	2	4	3	4			TCGA-CH-5768-01A-11D-1576-08	TCGA-CH-5768-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2aa9195-5cd4-4032-941e-90a1f724382c	5b3c1e73-475c-4b3b-a49a-0f11810c5223	g.chr7:90895231C>T	ENST00000287934.2	+	1	1449	c.1036C>T	c.(1036-1038)Cgg>Tgg	p.R346W		NM_003505.1	NP_003496.1	Q9UP38	FZD1_HUMAN	frizzled class receptor 1	346					autocrine signaling (GO:0035425)|axonogenesis (GO:0007409)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in mesenchymal stem cell differentiation (GO:0044338)|canonical Wnt signaling pathway involved in osteoblast differentiation (GO:0044339)|cell-cell signaling (GO:0007267)|epithelial cell differentiation (GO:0030855)|G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:0007199)|gonad development (GO:0008406)|hard palate development (GO:0060022)|lung alveolus development (GO:0048286)|membranous septum morphogenesis (GO:0003149)|muscular septum morphogenesis (GO:0003150)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catenin import into nucleus (GO:0035414)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron differentiation (GO:0030182)|outflow tract morphogenesis (GO:0003151)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription, DNA-templated (GO:0045893)|response to drug (GO:0042493)|vasculature development (GO:0001944)|Wnt signaling pathway, calcium modulating pathway (GO:0007223)	apical part of cell (GO:0045177)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|neuron projection membrane (GO:0032589)|plasma membrane (GO:0005886)	frizzled binding (GO:0005109)|G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|receptor binding (GO:0005102)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)	p.R346W(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24	all_cancers(62;3.1e-10)|all_epithelial(64;1.66e-08)|Breast(17;0.000635)|Lung NSC(181;0.153)|all_lung(186;0.154)|all_hematologic(106;0.215)		STAD - Stomach adenocarcinoma(171;0.0134)			GGTGGACATGCGGCGCTTCAG	0.637																																						ENST00000287934.2																			1	Substitution - Missense(1)	p.R346W(1)	prostate(1)	breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						c.(1036-1038)Cgg>Tgg		frizzled family receptor 1							99	94	96					7																	90895231		2203	4300	6503	SO:0001583	missense	8321				autocrine signaling|axonogenesis|brain development|canonical Wnt receptor signaling pathway involved in mesenchymal stem cell differentiation|canonical Wnt receptor signaling pathway involved in osteoblast differentiation|embryo development|epithelial cell differentiation|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|lung alveolus development|negative regulation of BMP signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to drug|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway	apical part of cell|cell surface|cytoplasm|integral to membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|receptor binding|Wnt receptor activity|Wnt-protein binding	g.chr7:90895231C>T	AB017363	CCDS5620.1	7q21	2014-01-29	2014-01-29		ENSG00000157240	ENSG00000157240		"GPCR / Class F : Frizzled receptors"	4038	protein-coding gene	gene with protein product	"Wnt receptor", "frizzled, Drosophila, homolog of, 1"	603408	"frizzled (Drosophila) homolog 1", "frizzled homolog 1 (Drosophila)", "frizzled 1, seven transmembrane spanning receptor", "frizzled family receptor 1"			9813155	Standard	NM_003505		Approved	DKFZp564G072	uc003ula.3	Q9UP38	OTTHUMG00000023046	ENST00000287934.2:c.1036C>T	7.37:g.90895231C>T	ENSP00000287934:p.Arg346Trp						p.R346W	NM_003505.1	NP_003496.1	Q9UP38	FZD1_HUMAN	STAD - Stomach adenocarcinoma(171;0.0134)		1	1449	+	all_cancers(62;3.1e-10)|all_epithelial(64;1.66e-08)|Breast(17;0.000635)|Lung NSC(181;0.153)|all_lung(186;0.154)|all_hematologic(106;0.215)		346					A4D1E8|O94815|Q549T8	Missense_Mutation	SNP	ENST00000287934.2	37	c.1036C>T	CCDS5620.1	.	.	.	.	.	.	.	.	.	.	C	16.10	3.028428	0.54790	.	.	ENSG00000157240	ENST00000287934	D	0.82893	-1.66	4.5	2.6	0.31112	GPCR, family 2-like (1);	0.168378	0.27331	N	0.019852	D	0.88028	0.6327	M	0.72118	2.19	0.39927	D	0.974235	D	0.76494	0.999	P	0.61658	0.892	D	0.88495	0.3078	10	0.87932	D	0	.	12.1765	0.54188	0.6509:0.349:0.0:0.0	.	346	Q9UP38	FZD1_HUMAN	W	346	ENSP00000287934:R346W	ENSP00000287934:R346W	R	+	1	2	FZD1	90733167	0.627000	0.27129	1.000000	0.80357	0.992000	0.81027	-0.101000	0.10973	0.466000	0.27193	0.407000	0.27541	CGG		0.637	FZD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059367.2	NM_003505		5	179	0	0	0	1	0	5	179					T	90895231	C	T	90895231	3	4	34	1	0	0	0	0	1	0	0	0	6128	759	27	1	1038	1	FZD1	7	90895231	Missense_Mutation	SNP	C	TCGA-CH-5768-01A-11D-1576-08	19764822	90895231	68243432	29	1693											
DGKI	9162	broad.mit.edu	37	chr7	137082144	137082144	+	Nonsense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttcactgtctgccatatccAataactcggaaggtcctaaa	12	12	6	11	1	2	0	1	0	1	0	5	1	4	1	3	2	2	0	3	2	6	4			TCGA-CH-5768-01A-11D-1576-08	TCGA-CH-5768-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2aa9195-5cd4-4032-941e-90a1f724382c	5b3c1e73-475c-4b3b-a49a-0f11810c5223	g.chr7:137082144A>T	ENST00000288490.5	-	32	2960	c.2960T>A	c.(2959-2961)tTg>tAg	p.L987*	DGKI_ENST00000494390.1_5'UTR|DGKI_ENST00000453654.2_Nonsense_Mutation_p.L656*|DGKI_ENST00000446122.1_Nonsense_Mutation_p.L969*|DGKI_ENST00000424189.2_Nonsense_Mutation_p.L1000*	NM_004717.2	NP_004708.1	O75912	DGKI_HUMAN	diacylglycerol kinase, iota	987					blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|positive regulation of Ras protein signal transduction (GO:0046579)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of Rap GTPase activity (GO:0032317)	cytoplasm (GO:0005737)|guanyl-nucleotide exchange factor complex (GO:0032045)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|GTPase inhibitor activity (GO:0005095)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)	p.L987*(1)		breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(46)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	84						TGCCATATCCAATAACTCGGA	0.333																																						ENST00000453654.1																			1	Substitution - Nonsense(1)	p.L987*(1)	prostate(1)	breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(46)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	84						c.(1966-1968)tTg>tAg		diacylglycerol kinase, iota							104	99	101					7																	137082144		2203	4299	6502	SO:0001587	stop_gained	9162				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding	g.chr7:137082144A>T	AF061936	CCDS5845.1	7q32.3-q33	2013-01-10			ENSG00000157680	ENSG00000157680		"Ankyrin repeat domain containing"	2855	protein-coding gene	gene with protein product		604072				9830018	Standard	NM_004717		Approved	DGK-IOTA	uc003vtt.3	O75912	OTTHUMG00000155697	ENST00000288490.5:c.2960T>A	7.37:g.137082144A>T	ENSP00000288490:p.Leu987*					DGKI_ENST00000494390.1_5'UTR|DGKI_ENST00000288490.5_Nonsense_Mutation_p.L987*|DGKI_ENST00000424189.2_Nonsense_Mutation_p.L1000*|DGKI_ENST00000446122.1_Nonsense_Mutation_p.L969*	p.L656*			O75912	DGKI_HUMAN			31	2506	-			987					A4D1Q9|Q9NZ49	Nonsense_Mutation	SNP	ENST00000288490.5	37	c.1967T>A	CCDS5845.1	.	.	.	.	.	.	.	.	.	.	A	44	10.721610	0.99456	.	.	ENSG00000157680	ENST00000453654;ENST00000540376;ENST00000424189;ENST00000288490;ENST00000446122	.	.	.	4.54	4.54	0.55810	.	0.000000	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.9025	0.58133	1.0:0.0:0.0:0.0	.	.	.	.	X	656;904;990;987;969	.	ENSP00000288490:L987X	L	-	2	0	DGKI	136732684	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	5.953000	0.70290	2.039000	0.60335	0.533000	0.62120	TTG		0.333	DGKI-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341286.3	NM_004717		7	165	0	0	0	1	0	7	165					T	137082144	A	T	137082144	4	4	34	1	0	0	0	0	0	1	0	0	4471	131	5	5	249	5	DGKI	7	137082144	Nonsense_Mutation	SNP	A	TCGA-CH-5768-01A-11D-1576-08	46186913	137082144	22056519	30	1694											
ADRA1A	148	broad.mit.edu	37	chr8	26721617	26721617	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gacttaccaatgggcatgacTaagaaaaaaggcagccagca	17	5	10	9	0	0	2	0	1	0	1	0	3	0	2	2	2	3	3	2	2	6	2			TCGA-CH-5768-01A-11D-1576-08	TCGA-CH-5768-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2aa9195-5cd4-4032-941e-90a1f724382c	5b3c1e73-475c-4b3b-a49a-0f11810c5223	g.chr8:26721617T>G	ENST00000519229.1	-	1	876	c.870A>C	c.(868-870)ttA>ttC	p.L290F	ADRA1A_ENST00000380581.2_Missense_Mutation_p.L290F|ADRA1A_ENST00000354550.4_Missense_Mutation_p.L290F|ADRA1A_ENST00000380573.3_Missense_Mutation_p.L290F|ADRA1A_ENST00000380582.3_Missense_Mutation_p.L290F|ADRA1A_ENST00000276393.4_Missense_Mutation_p.L290F|ADRA1A_ENST00000380587.1_Missense_Mutation_p.L290F|ADRA1A_ENST00000380572.3_Missense_Mutation_p.L290F|ADRA1A_ENST00000358857.5_Missense_Mutation_p.L290F|ADRA1A_ENST00000380586.1_Missense_Mutation_p.L290F			P25100	ADA1D_HUMAN	adrenoceptor alpha 1A	366					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|adrenergic receptor signaling pathway (GO:0071875)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|DNA metabolic process (GO:0006259)|G-protein coupled receptor signaling pathway (GO:0007186)|multicellular organismal development (GO:0007275)|negative regulation of the force of heart contraction involved in baroreceptor response to increased systemic arterial blood pressure (GO:0001986)|norepinephrine-epinephrine vasoconstriction involved in regulation of systemic arterial blood pressure (GO:0001994)|positive regulation of cell proliferation (GO:0008284)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	alpha1-adrenergic receptor activity (GO:0004937)	p.L290F(5)		breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|skin(1)	36		all_cancers(63;0.122)|Ovarian(32;2.61e-05)|all_epithelial(46;0.118)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;4.92e-10)|Colorectal(74;0.0132)|READ - Rectum adenocarcinoma(644;0.115)	Alfuzosin(DB00346)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Amphetamine(DB00182)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Clonidine(DB00575)|Dapiprazole(DB00298)|Desipramine(DB01151)|Doxazosin(DB00590)|Doxepin(DB01142)|Dronedarone(DB04855)|Droxidopa(DB06262)|Epinephrine(DB00668)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Imipramine(DB00458)|Labetalol(DB00598)|Maprotiline(DB00934)|Mephentermine(DB01365)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Mianserin(DB06148)|Midodrine(DB00211)|Mirtazapine(DB00370)|Nicardipine(DB00622)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Oxymetazoline(DB00935)|Pergolide(DB01186)|Phenoxybenzamine(DB00925)|Phenylephrine(DB00388)|Prazosin(DB00457)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Sertindole(DB06144)|Silodosin(DB06207)|Tamsulosin(DB00706)|Terazosin(DB01162)|Xylometazoline(DB06694)	TGGGCATGACTAAGAAAAAAG	0.562																																						ENST00000380573.3																			5	Substitution - Missense(5)	p.L290F(5)	prostate(5)	breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|skin(1)	36						c.(868-870)ttA>ttC		adrenoceptor alpha 1A	Alfuzosin(DB00346)|Amiodarone(DB01118)|Amphetamine(DB00182)|Benzphetamine(DB00865)|Bethanidine(DB00217)|Carvedilol(DB01136)|Dapiprazole(DB00298)|Debrisoquin(DB04840)|Dextroamphetamine(DB01576)|Doxazosin(DB00590)|Epinastine(DB00751)|Epinephrine(DB00668)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Labetalol(DB00598)|Lisdexamfetamine(DB01255)|Maprotiline(DB00934)|Mephentermine(DB01365)|Metaraminol(DB00610)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Midodrine(DB00211)|Nefazodone(DB01149)|Nicergoline(DB00699)|Nilutamide(DB00665)|Norepinephrine(DB00368)|Norgestrel(DB00506)|Oxymetazoline(DB00935)|Perphenazine(DB00850)|Phendimetrazine(DB01579)|Phenoxybenzamine(DB00925)|Phenylephrine(DB00388)|Phenylpropanolamine(DB00397)|Prazosin(DB00457)|Promazine(DB00420)|Promethazine(DB01069)|Propericiazine(DB01608)|Propiomazine(DB00777)|Pseudoephedrine(DB00852)|Risperidone(DB00734)|Sertindole(DB06144)|Tamsulosin(DB00706)|Terazosin(DB01162)|Thioridazine(DB00679)|Tolazoline(DB00797)|Trazodone(DB00656)|Trifluoperazine(DB00831)|Ziprasidone(DB00246)						43	40	41					8																	26721617		2203	4300	6503	SO:0001583	missense	148				activation of phospholipase C activity|aging|apoptosis|calcium ion transport into cytosol|cell-cell signaling|intracellular protein kinase cascade|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of synaptic transmission, GABAergic|positive regulation of action potential|positive regulation of cardiac muscle contraction|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase C signaling cascade|positive regulation of vasoconstriction|response to drug|response to hormone stimulus|response to stress|smooth muscle contraction	integral to plasma membrane	alpha1-adrenergic receptor activity	g.chr8:26721617T>G	L31774	CCDS6052.1, CCDS6053.1, CCDS6054.1, CCDS34869.1	8p21.2	2012-08-08	2012-05-09		ENSG00000120907	ENSG00000120907		"GPCR / Class A : Adrenoceptors : alpha"	277	protein-coding gene	gene with protein product		104221	"adrenergic, alpha-1A-, receptor"	ADRA1C			Standard	NM_033303		Approved	ADRA1L1	uc003xfh.1	P35348	OTTHUMG00000099459	ENST00000519229.1:c.870A>C	8.37:g.26721617T>G	ENSP00000430793:p.Leu290Phe					ADRA1A_ENST00000276393.4_Missense_Mutation_p.L290F|ADRA1A_ENST00000519229.1_Missense_Mutation_p.L290F|ADRA1A_ENST00000358857.5_Missense_Mutation_p.L290F|ADRA1A_ENST00000380586.1_Missense_Mutation_p.L290F|ADRA1A_ENST00000380572.3_Missense_Mutation_p.L290F|ADRA1A_ENST00000354550.4_Missense_Mutation_p.L290F|ADRA1A_ENST00000380587.1_Missense_Mutation_p.L290F|ADRA1A_ENST00000380582.3_Missense_Mutation_p.L290F|ADRA1A_ENST00000380581.2_Missense_Mutation_p.L290F	p.L290F			P35348	ADA1A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;4.92e-10)|Colorectal(74;0.0132)|READ - Rectum adenocarcinoma(644;0.115)	2	1893	-		all_cancers(63;0.122)|Ovarian(32;2.61e-05)|all_epithelial(46;0.118)	290					Q9NPY0	Missense_Mutation	SNP	ENST00000519229.1	37	c.870A>C		.	.	.	.	.	.	.	.	.	.	T	5.118	0.207404	0.09704	.	.	ENSG00000120907	ENST00000380586;ENST00000380587;ENST00000380582;ENST00000380581;ENST00000519229;ENST00000354550;ENST00000276393;ENST00000380573;ENST00000380572;ENST00000358857	T;T;T;T;T;T;T;T;T;T	0.73363	-0.74;-0.74;-0.74;-0.74;-0.74;-0.74;-0.74;-0.74;-0.74;-0.74	5.27	-7.93	0.01156	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000003	T	0.64527	0.2606	L	0.29908	0.895	0.32547	N	0.532931	B;B;B;B;D;B	0.58268	0.138;0.138;0.08;0.128;0.982;0.08	B;B;B;B;P;B	0.61201	0.073;0.073;0.074;0.098;0.885;0.119	T	0.70346	-0.4897	10	0.19147	T	0.46	.	6.9799	0.24698	0.0996:0.5267:0.1018:0.2719	.	290;290;290;290;290;290	P35348-9;P35348-8;P35348;P35348-4;P35348-3;B0ZBD3	.;.;ADA1A_HUMAN;.;.;.	F	290	ENSP00000369960:L290F;ENSP00000369961:L290F;ENSP00000369956:L290F;ENSP00000369955:L290F;ENSP00000430793:L290F;ENSP00000346557:L290F;ENSP00000276393:L290F;ENSP00000369947:L290F;ENSP00000369946:L290F;ENSP00000351725:L290F	ENSP00000276393:L290F	L	-	3	2	ADRA1A	26777534	0.036000	0.19791	0.500000	0.27589	0.561000	0.35649	-0.925000	0.03992	-1.629000	0.01546	-0.468000	0.05107	TTA		0.562	ADRA1A-009	PUTATIVE	not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000376207.1	NM_033303		4	39	0	0	0	1	0	4	39					G	26721617	T	G	26721617	3	3	34	1	0	0	0	0	1	0	0	0	334	1519	53	5	829	5	ADRA1A	8	26721617	Missense_Mutation	SNP	T	TCGA-CH-5768-01A-11D-1576-08		26721617	119642405	31	1695											
SULF1	23213	broad.mit.edu	37	chr8	70533358	70533358	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctcacagtccggcagagcaCgcggaacctctacgctcgcg	8	5	12	16	6	2	1	1	0	1	1	4	2	3	2	2	2	3	4	2	2	2	1			TCGA-CH-5768-01A-11D-1576-08	TCGA-CH-5768-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2aa9195-5cd4-4032-941e-90a1f724382c	5b3c1e73-475c-4b3b-a49a-0f11810c5223	g.chr8:70533358C>T	ENST00000260128.4	+	14	2183	c.1466C>T	c.(1465-1467)aCg>aTg	p.T489M	SULF1_ENST00000521946.1_3'UTR|SULF1_ENST00000419716.3_Missense_Mutation_p.T489M|SULF1_ENST00000402687.4_Missense_Mutation_p.T489M|SULF1_ENST00000458141.2_Missense_Mutation_p.T489M	NM_015170.2	NP_055985.2	Q8IWU6	SULF1_HUMAN	sulfatase 1	489					apoptotic process (GO:0006915)|bone development (GO:0060348)|cartilage development (GO:0051216)|chondrocyte development (GO:0002063)|embryonic skeletal system development (GO:0048706)|esophagus smooth muscle contraction (GO:0014846)|glial cell-derived neurotrophic factor receptor signaling pathway (GO:0035860)|glomerular basement membrane development (GO:0032836)|glomerular filtration (GO:0003094)|heparan sulfate proteoglycan metabolic process (GO:0030201)|innervation (GO:0060384)|kidney development (GO:0001822)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell migration (GO:0030336)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|negative regulation of prostatic bud formation (GO:0060686)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of Wnt signaling pathway (GO:0030177)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	arylsulfatase activity (GO:0004065)|calcium ion binding (GO:0005509)|N-acetylglucosamine-6-sulfatase activity (GO:0008449)	p.T489M(1)		breast(2)|central_nervous_system(3)|endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	Breast(64;0.0654)		Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)			CGGCAGAGCACGCGGAACCTC	0.522																																						ENST00000260128.4																			1	Substitution - Missense(1)	p.T489M(1)	prostate(1)	breast(2)|central_nervous_system(3)|endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	52						c.(1465-1467)aCg>aTg		sulfatase 1							82	81	82					8																	70533358		2203	4300	6503	SO:0001583	missense	23213				apoptosis|bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding	g.chr8:70533358C>T	AB029000	CCDS6204.1	8q13.2	2014-09-11			ENSG00000137573	ENSG00000137573			20391	protein-coding gene	gene with protein product		610012				12368295	Standard	NM_015170		Approved	KIAA1077, SULF-1	uc003xyd.2	Q8IWU6	OTTHUMG00000164466	ENST00000260128.4:c.1466C>T	8.37:g.70533358C>T	ENSP00000260128:p.Thr489Met					SULF1_ENST00000521946.1_3'UTR|SULF1_ENST00000402687.4_Missense_Mutation_p.T489M|SULF1_ENST00000458141.2_Missense_Mutation_p.T489M|SULF1_ENST00000419716.3_Missense_Mutation_p.T489M	p.T489M	NM_015170.2	NP_055985.2	Q8IWU6	SULF1_HUMAN	Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)		14	2183	+	Breast(64;0.0654)		489					Q86YV8|Q8NCA2|Q9UPS5	Missense_Mutation	SNP	ENST00000260128.4	37	c.1466C>T	CCDS6204.1	.	.	.	.	.	.	.	.	.	.	C	17.23	3.336929	0.60963	.	.	ENSG00000137573	ENST00000458141;ENST00000260128;ENST00000402687;ENST00000419716	D;D;D;D	0.98901	-5.22;-5.22;-5.22;-5.22	5.95	5.08	0.68730	Alkaline-phosphatase-like, core domain (1);	0.419750	0.30219	N	0.010124	D	0.95680	0.8595	N	0.12182	0.205	0.31988	N	0.604949	B	0.29612	0.251	B	0.34346	0.18	D	0.95482	0.8561	10	0.33940	T	0.23	.	15.1228	0.72457	0.0:0.9326:0.0:0.0674	.	489	Q8IWU6	SULF1_HUMAN	M	489	ENSP00000403040:T489M;ENSP00000260128:T489M;ENSP00000385704:T489M;ENSP00000390315:T489M	ENSP00000260128:T489M	T	+	2	0	SULF1	70695912	0.989000	0.36119	0.783000	0.31826	0.455000	0.32408	5.365000	0.66116	1.534000	0.49203	0.655000	0.94253	ACG		0.522	SULF1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378885.2	NM_015170		22	85	0	0	0	1	0	22	85					T	70533358	C	T	70533358	3	4	34	1	0	0	0	0	1	0	0	0	15369	536	19	1	1504	1	SULF1	8	70533358	Missense_Mutation	SNP	C	TCGA-CH-5768-01A-11D-1576-08	43811741	70533358	75830664	32	1696											
SLC45A4	57210	broad.mit.edu	37	chr8	142226017	142226017	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aagcccagcgtccccagcacGtagatcaccctgacgctcag	10	5	9	17	3	2	2	2	1	0	1	3	2	3	2	4	0	3	3	4	0	2	1			TCGA-CH-5768-01A-11D-1576-08	TCGA-CH-5768-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2aa9195-5cd4-4032-941e-90a1f724382c	5b3c1e73-475c-4b3b-a49a-0f11810c5223	g.chr8:142226017G>A	ENST00000024061.3	-	6	1936	c.1629C>T	c.(1627-1629)taC>taT	p.Y543Y	SLC45A4_ENST00000519067.1_Silent_p.Y543Y|SLC45A4_ENST00000433583.2_Silent_p.Y536Y|SLC45A4_ENST00000517878.1_Silent_p.Y594Y	NM_001080431.1	NP_001073900.1	Q5BKX6	S45A4_HUMAN	solute carrier family 45, member 4						transport (GO:0006810)	integral component of membrane (GO:0016021)		p.Y543Y(1)		breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31	all_cancers(97;1.52e-15)|all_epithelial(106;2.92e-14)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0493)			TCCCCAGCACGTAGATCACCC	0.602																																						ENST00000519067.1																			1	Substitution - coding silent(1)	p.Y543Y(1)	prostate(1)	breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31						c.(1627-1629)taC>taT		solute carrier family 45, member 4							147	97	114					8																	142226017		2203	4300	6503	SO:0001819	synonymous_variant	57210				transport	integral to membrane		g.chr8:142226017G>A	AB032952	CCDS34948.1, CCDS69550.1, CCDS75795.1	8q24.3	2013-05-22						"Solute carriers"	29196	protein-coding gene	gene with protein product							Standard	NM_001080431		Approved	KIAA1126	uc003ywd.1	Q5BKX6		ENST00000024061.3:c.1629C>T	8.37:g.142226017G>A						SLC45A4_ENST00000024061.3_Silent_p.Y543Y|SLC45A4_ENST00000433583.2_Silent_p.Y536Y|SLC45A4_ENST00000517878.1_Silent_p.Y594Y	p.Y543Y			Q5BKX6	S45A4_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0493)		6	1932	-	all_cancers(97;1.52e-15)|all_epithelial(106;2.92e-14)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		594					Q6ZRI2|Q9ULU3	Silent	SNP	ENST00000024061.3	37	c.1629C>T	CCDS34948.1																																																																																				0.602	SLC45A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378571.3	XM_050325		8	39	0	0	0	1	0	8	39					A	142226017	G	A	142226017	2	1	34	1	0	0	0	0	0	0	0	1	14643	1140	40	1		1	SLC45A4	8	142226017	Silent	SNP	G	TCGA-CH-5768-01A-11D-1576-08	71692659	142226017	4138005	33	1697											
MPDZ	8777	broad.mit.edu	37	chr9	13190228	13190228	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cctcttctgtactctgacccGcatcagtcatcgccagcact	7	11	6	17	2	5	1	2	1	3	0	6	1	5	1	3	0	2	3	3	0	1	2	rs370396750		TCGA-CH-5768-01A-11D-1576-08	TCGA-CH-5768-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2aa9195-5cd4-4032-941e-90a1f724382c	5b3c1e73-475c-4b3b-a49a-0f11810c5223	g.chr9:13190228G>A	ENST00000319217.7	-	16	2286	c.2039C>T	c.(2038-2040)gCg>gTg	p.A680V	MPDZ_ENST00000447879.1_Missense_Mutation_p.A680V|MPDZ_ENST00000546205.1_Missense_Mutation_p.A680V|MPDZ_ENST00000541718.1_Missense_Mutation_p.A680V|MPDZ_ENST00000536827.1_Missense_Mutation_p.A680V|MPDZ_ENST00000381015.4_Missense_Mutation_p.A680V|MPDZ_ENST00000381022.2_Missense_Mutation_p.A680V	NM_001261406.1	NP_001248335.1	O75970	MPDZ_HUMAN	multiple PDZ domain protein	680					cell adhesion (GO:0007155)|myelination (GO:0042552)|viral process (GO:0016032)	apical plasma membrane (GO:0016324)|apicolateral plasma membrane (GO:0016327)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|neuron projection (GO:0043005)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)|tight junction (GO:0005923)	protein C-terminus binding (GO:0008022)	p.A680V(2)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(15)|ovary(5)|prostate(7)|stomach(1)|urinary_tract(2)	61				GBM - Glioblastoma multiforme(50;2.03e-06)		ACTCTGACCCGCATCAGTCAT	0.502																																						ENST00000319217.7																			2	Substitution - Missense(2)	p.A680V(2)	prostate(2)	NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(15)|ovary(5)|prostate(7)|stomach(1)|urinary_tract(2)	61						c.(2038-2040)gCg>gTg		multiple PDZ domain protein		G	VAL/ALA	0,4150		0,0,2075	79	75	76		2039	0.8	0	9	dbSNP_134	76	1,8443		0,1,4221	no	missense	MPDZ	NM_003829.3	64	0,1,6296	AA,AG,GG		0.0118,0.0,0.0079	benign	680/2042	13190228	1,12593	2075	4222	6297	SO:0001583	missense	8777				interspecies interaction between organisms	apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	protein C-terminus binding	g.chr9:13190228G>A	AF093419	CCDS47951.1, CCDS59119.1, CCDS59120.1	9p23	2008-05-15			ENSG00000107186	ENSG00000107186			7208	protein-coding gene	gene with protein product		603785					Standard	NM_003829		Approved	MUPP1	uc003zlb.4	O75970	OTTHUMG00000021031	ENST00000319217.7:c.2039C>T	9.37:g.13190228G>A	ENSP00000320006:p.Ala680Val					MPDZ_ENST00000541718.1_Missense_Mutation_p.A680V|MPDZ_ENST00000447879.1_Missense_Mutation_p.A680V|MPDZ_ENST00000536827.1_Missense_Mutation_p.A680V|MPDZ_ENST00000546205.1_Missense_Mutation_p.A680V|MPDZ_ENST00000381015.4_Missense_Mutation_p.A680V|MPDZ_ENST00000381022.2_Missense_Mutation_p.A680V	p.A680V	NM_001261406.1	NP_001248335.1	O75970	MPDZ_HUMAN		GBM - Glioblastoma multiforme(50;2.03e-06)	16	2286	-			680					A6NLC2|B2RTS3|B7ZMI4|O43798|Q4LE30|Q5CZ80|Q5JTX3|Q5JTX6|Q5JTX7|Q5JUC3|Q5JUC4|Q5VZ62|Q8N790	Missense_Mutation	SNP	ENST00000319217.7	37	c.2039C>T		.	.	.	.	.	.	.	.	.	.	G	4.249	0.045155	0.08196	0.0	1.18E-4	ENSG00000107186	ENST00000319217;ENST00000541718;ENST00000381022;ENST00000536827;ENST00000447879;ENST00000381015;ENST00000546205	T;T;T;T;T;T;T	0.11063	2.86;2.81;2.81;2.81;2.86;2.86;2.86	5.83	0.843	0.18935	.	0.559781	0.14821	N	0.296472	T	0.02888	0.0086	N	0.01576	-0.805	0.80722	D	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.43442	-0.9391	10	0.26408	T	0.33	.	2.2097	0.03945	0.5653:0.106:0.1339:0.1949	.	680;680;680	B7ZMI4;O75970-3;O75970-2	.;.;.	V	680	ENSP00000320006:A680V;ENSP00000439807:A680V;ENSP00000370410:A680V;ENSP00000444151:A680V;ENSP00000415208:A680V;ENSP00000370403:A680V;ENSP00000446358:A680V	ENSP00000320006:A680V	A	-	2	0	MPDZ	13180228	0.001000	0.12720	0.046000	0.18839	0.008000	0.06430	0.765000	0.26546	-0.086000	0.12550	-1.099000	0.02127	GCG		0.502	MPDZ-001	KNOWN	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000055485.2	NM_003829		3	55	0	0	0	1	0	3	55					A	13190228	G	A	13190228	3	1	34	1	0	0	0	0	1	0	0	0	9722	1087	38	1	4210	1	MPDZ	9	13190228	Missense_Mutation	SNP	G	TCGA-CH-5768-01A-11D-1576-08		13190228	128023203	34	1698											
GAD2	2572	broad.mit.edu	37	chr10	26581402	26581402	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tctcttacctaggggactacCgggtttgaagcgcatgttga	8	12	12	9	2	1	2	0	2	1	0	2	3	1	3	2	3	3	3	2	3	4	5			TCGA-CH-5768-01A-11D-1576-08	TCGA-CH-5768-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2aa9195-5cd4-4032-941e-90a1f724382c	5b3c1e73-475c-4b3b-a49a-0f11810c5223	g.chr10:26581402C>T	ENST00000376261.3	+	14	1898	c.1395C>T	c.(1393-1395)acC>acT	p.T465T	GAD2_ENST00000259271.3_Silent_p.T465T	NM_001134366.1	NP_001127838.1	Q05329	DCE2_HUMAN	glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa)	465					glutamate decarboxylation to succinate (GO:0006540)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter secretion (GO:0007269)|response to drug (GO:0042493)|synaptic transmission (GO:0007268)	anchored component of membrane (GO:0031225)|axon (GO:0030424)|cell junction (GO:0030054)|clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane (GO:0061202)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|synaptic vesicle membrane (GO:0030672)	glutamate binding (GO:0016595)|glutamate decarboxylase activity (GO:0004351)|pyridoxal phosphate binding (GO:0030170)	p.T465T(1)		central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(26)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						AGGGGACTACCGGGTTTGAAG	0.468																																						ENST00000376261.3																			1	Substitution - coding silent(1)	p.T465T(1)	prostate(1)	central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(26)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						c.(1393-1395)acC>acT		glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa)	L-Glutamic Acid(DB00142)						110	101	104					10																	26581402		2203	4300	6503	SO:0001819	synonymous_variant	2572				glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion	cell junction|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|Golgi membrane|presynaptic membrane	glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding	g.chr10:26581402C>T	AJ251501	CCDS7149.1	10p13-p11.2	2003-11-11	2002-08-29		ENSG00000136750	ENSG00000136750	4.1.1.15		4093	protein-coding gene	gene with protein product		138275	"glutamate decarboxylase 2 (pancreatic islets and brain, 65kD)"			2039509	Standard	NM_000818		Approved	GAD65	uc001isp.2	Q05329	OTTHUMG00000017836	ENST00000376261.3:c.1395C>T	10.37:g.26581402C>T						GAD2_ENST00000259271.3_Silent_p.T465T	p.T465T	NM_001134366.1	NP_001127838.1	Q05329	DCE2_HUMAN			14	1898	+			465					Q9UD87	Silent	SNP	ENST00000376261.3	37	c.1395C>T	CCDS7149.1																																																																																				0.468	GAD2-001	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047255.1	NM_000818		34	82	0	0	0	1	0	34	82					T	26581402	C	T	26581402	2	4	34	1	0	0	0	0	0	0	0	1	6180	639	23	2		2	GAD2	10	26581402	Silent	SNP	C	TCGA-CH-5768-01A-11D-1576-08		26581402	108953345	35	1699											
NCOA4	8031	broad.mit.edu	37	chr10	51584833	51584833	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gctagtgactccccaggaatCccataagctgcggaagcctg	10	7	11	13	1	0	1	0	1	0	0	2	3	2	3	4	2	3	2	4	2	4	2			TCGA-CH-5768-01A-11D-1576-08	TCGA-CH-5768-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2aa9195-5cd4-4032-941e-90a1f724382c	5b3c1e73-475c-4b3b-a49a-0f11810c5223	g.chr10:51584833C>T	ENST00000443446.1	+	8	1161	c.932C>T	c.(931-933)tCc>tTc	p.S311F	NCOA4_ENST00000430396.2_Missense_Mutation_p.S211F|NCOA4_ENST00000438493.1_Missense_Mutation_p.S327F|NCOA4_ENST00000344348.6_Missense_Mutation_p.S311F|NCOA4_ENST00000374082.1_Missense_Mutation_p.S311F|NCOA4_ENST00000414907.2_Missense_Mutation_p.S145F|NCOA4_ENST00000374087.4_Missense_Mutation_p.S311F|NCOA4_ENST00000452682.1_Missense_Mutation_p.S327F	NM_001145262.1	NP_001138734.1	Q13772	NCOA4_HUMAN	nuclear receptor coactivator 4	311					androgen receptor signaling pathway (GO:0030521)|male gonad development (GO:0008584)|positive regulation of transcription, DNA-templated (GO:0045893)|response to hormone (GO:0009725)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|transcription coactivator activity (GO:0003713)	p.S327F(1)		NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|skin(1)	5						CCCCAGGAATCCCATAAGCTG	0.438			T	RET	papillary thyroid																																	ENST00000452682.1				Dom	yes		10	10q11.2	8031	T	nuclear receptor coactivator 4 - PTC3 (ELE1)			E	RET		papillary thyroid		1	Substitution - Missense(1)	p.S327F(1)	prostate(1)	NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|skin(1)	5						c.(979-981)tCc>tTc		nuclear receptor coactivator 4							80	81	81					10																	51584833		2203	4300	6503	SO:0001583	missense	8031				androgen receptor signaling pathway|male gonad development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	androgen receptor binding|transcription coactivator activity	g.chr10:51584833C>T	L49399	CCDS73092.1, CCDS73093.1, CCDS73094.1	10q11.2	2014-04-10			ENSG00000138293	ENSG00000266412			7671	protein-coding gene	gene with protein product	"RET-activating gene ELE1"	601984				8290261, 8643607, 24695223	Standard	NM_001145260		Approved	ARA70, RFG, ELE1, PTC3, DKFZp762E1112	uc009xon.3	Q13772	OTTHUMG00000188314	ENST00000443446.1:c.932C>T	10.37:g.51584833C>T	ENSP00000390713:p.Ser311Phe					NCOA4_ENST00000374082.1_Missense_Mutation_p.S311F|NCOA4_ENST00000430396.2_Missense_Mutation_p.S211F|NCOA4_ENST00000344348.6_Missense_Mutation_p.S311F|NCOA4_ENST00000438493.1_Missense_Mutation_p.S327F|NCOA4_ENST00000374087.4_Missense_Mutation_p.S311F|NCOA4_ENST00000443446.1_Missense_Mutation_p.S311F|NCOA4_ENST00000414907.2_Missense_Mutation_p.S145F	p.S327F	NM_001145260.1	NP_001138732.1	Q13772	NCOA4_HUMAN			9	1232	+			311					A8K8W5|B4E260|E9PAV7|J3KQN8|Q14239	Missense_Mutation	SNP	ENST00000443446.1	37	c.980C>T	CCDS7237.1	.	.	.	.	.	.	.	.	.	.	C	11.58	1.682397	0.29872	.	.	ENSG00000138293	ENST00000438493;ENST00000452682;ENST00000430396;ENST00000374087;ENST00000414907;ENST00000344348;ENST00000374082;ENST00000443446	T;T;T;T;T;T;T;T	0.32023	1.47;1.47;1.47;1.47;1.47;1.47;1.47;1.47	6.03	4.17	0.49024	.	0.858095	0.10311	N	0.689909	T	0.43389	0.1245	M	0.63428	1.95	0.09310	N	1	P;P;D;P	0.54397	0.884;0.939;0.966;0.487	P;P;P;B	0.52267	0.459;0.694;0.694;0.361	T	0.22591	-1.0212	9	.	.	.	-9.5798	11.3069	0.49340	0.0:0.8033:0.0:0.1967	.	211;327;327;311	B4DF87;B4E260;E9PAV7;Q13772	.;.;.;NCOA4_HUMAN	F	327;327;211;311;145;311;311;311	ENSP00000405146:S327F;ENSP00000395465:S327F;ENSP00000393053:S211F;ENSP00000363200:S311F;ENSP00000411018:S145F;ENSP00000344552:S311F;ENSP00000363195:S311F;ENSP00000390713:S311F	.	S	+	2	0	NCOA4	51254839	0.001000	0.12720	0.005000	0.12908	0.139000	0.21198	0.927000	0.28818	1.551000	0.49450	0.655000	0.94253	TCC		0.438	NCOA4-204	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048052.1	NM_005437		43	82	0	0	0	1	0	43	82					T	51584833	C	T	51584833	3	4	34	1	0	0	0	0	1	0	0	0	10231	855	30	3	1010	3	NCOA4	10	51584833	Missense_Mutation	SNP	C	TCGA-CH-5768-01A-11D-1576-08	25003431	51584833	83949914	36	1700											
SLIT1	6585	broad.mit.edu	37	chr10	98762741	98762741	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcagctgagttgacatccaCgggcatccctggggtagggg	7	7	17	10	1	0	2	0	2	0	0	2	2	2	2	2	6	1	5	2	6	1	2	rs375257308		TCGA-CH-5768-01A-11D-1576-08	TCGA-CH-5768-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2aa9195-5cd4-4032-941e-90a1f724382c	5b3c1e73-475c-4b3b-a49a-0f11810c5223	g.chr10:98762741C>T	ENST00000266058.4	-	35	4119	c.3874G>A	c.(3874-3876)Gtg>Atg	p.V1292M	SLIT1_ENST00000371070.4_Missense_Mutation_p.V1292M|ARHGAP19-SLIT1_ENST00000453547.2_3'UTR	NM_003061.2	NP_003052.2	O75093	SLIT1_HUMAN	slit homolog 1 (Drosophila)	1292	Laminin G-like. {ECO:0000255|PROSITE- ProRule:PRU00122}.				axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|dorsal/ventral axon guidance (GO:0033563)|establishment of nucleus localization (GO:0040023)|forebrain morphogenesis (GO:0048853)|motor neuron axon guidance (GO:0008045)|negative chemotaxis (GO:0050919)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of synapse assembly (GO:0051964)|retinal ganglion cell axon guidance (GO:0031290)|spinal cord development (GO:0021510)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)	extracellular space (GO:0005615)	calcium ion binding (GO:0005509)|Roundabout binding (GO:0048495)	p.V1292M(1)		breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(37)|ovary(5)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	78		Colorectal(252;0.162)		Epithelial(162;2.02e-08)|all cancers(201;1.5e-06)		TTGACATCCACGGGCATCCCT	0.627																																						ENST00000266058.4																			1	Substitution - Missense(1)	p.V1292M(1)	prostate(1)	breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(37)|ovary(5)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	78						c.(3874-3876)Gtg>Atg		slit homolog 1 (Drosophila)							107	108	108					10																	98762741		2203	4300	6503	SO:0001583	missense	6585				axon extension involved in axon guidance|forebrain morphogenesis|motor axon guidance|negative chemotaxis|negative regulation of synaptogenesis	cytoplasm|extracellular space	calcium ion binding|Roundabout binding	g.chr10:98762741C>T	AB011537	CCDS7453.1	10q23.3-q24	2008-08-01	2001-11-28		ENSG00000187122	ENSG00000187122			11085	protein-coding gene	gene with protein product		603742	"slit (Drosophila) homolog 1"	SLIL1		9693030, 9813312	Standard	NM_003061		Approved	slit1, MEGF4, Slit-1, SLIT3	uc001kmw.2	O75093	OTTHUMG00000018843	ENST00000266058.4:c.3874G>A	10.37:g.98762741C>T	ENSP00000266058:p.Val1292Met					ARHGAP19-SLIT1_ENST00000453547.2_3'UTR|SLIT1_ENST00000371070.4_Missense_Mutation_p.V1292M	p.V1292M	NM_003061.2	NP_003052.2	O75093	SLIT1_HUMAN		Epithelial(162;2.02e-08)|all cancers(201;1.5e-06)	35	4119	-		Colorectal(252;0.162)	1292			Laminin G-like.		Q5T0V1|Q8WWZ2|Q9UIL7	Missense_Mutation	SNP	ENST00000266058.4	37	c.3874G>A	CCDS7453.1	.	.	.	.	.	.	.	.	.	.	c	15.37	2.814179	0.50527	.	.	ENSG00000187122	ENST00000266058;ENST00000371070	T;T	0.77750	-1.12;-1.12	4.66	3.76	0.43208	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.061196	0.64402	N	0.000004	T	0.80793	0.4691	L	0.41415	1.275	0.80722	D	1	D	0.76494	0.999	D	0.63793	0.918	T	0.80369	-0.1411	10	0.45353	T	0.12	.	12.7571	0.57341	0.0:0.9193:0.0:0.0807	.	1292	O75093	SLIT1_HUMAN	M	1292	ENSP00000266058:V1292M;ENSP00000360109:V1292M	ENSP00000266058:V1292M	V	-	1	0	SLIT1	98752731	1.000000	0.71417	0.933000	0.37362	0.650000	0.38633	3.952000	0.56691	1.199000	0.43173	-0.215000	0.12644	GTG		0.627	SLIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049636.1	NM_003061		10	159	0	0	0	1	0	10	159					T	98762741	C	T	98762741	3	4	34	1	0	0	0	0	1	0	0	0	14739	536	19	1	742	1	SLIT1	10	98762741	Missense_Mutation	SNP	C	TCGA-CH-5768-01A-11D-1576-08	47177908	98762741	36772006	37	1701											
ADAM12	8038	broad.mit.edu	37	chr10	127737879	127737879	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgggtccggcatgtcatcGcccaagtacacgtgggtccc	6	8	12	15	3	1	0	1	0	0	0	4	0	3	0	4	3	1	2	4	3	2	1	rs539968083		TCGA-CH-5768-01A-11D-1576-08	TCGA-CH-5768-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2aa9195-5cd4-4032-941e-90a1f724382c	5b3c1e73-475c-4b3b-a49a-0f11810c5223	g.chr10:127737879G>A	ENST00000368679.4	-	16	2178	c.1869C>T	c.(1867-1869)ggC>ggT	p.G623G	ADAM12_ENST00000467145.1_5'Flank|ADAM12_ENST00000368676.4_Silent_p.G623G	NM_003474.4	NP_003465.3	O43184	ADA12_HUMAN	ADAM metallopeptidase domain 12	623	Cys-rich.				cell adhesion (GO:0007155)|epidermal growth factor receptor signaling pathway (GO:0007173)|myoblast fusion (GO:0007520)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|SH3 domain binding (GO:0017124)|zinc ion binding (GO:0008270)	p.G623G(4)		biliary_tract(1)|breast(7)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69		all_epithelial(44;7.06e-05)|all_lung(145;0.00563)|Lung NSC(174;0.00834)|Colorectal(57;0.102)|all_neural(114;0.107)|Breast(234;0.22)		COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.216)		GCATGTCATCGCCCAAGTACA	0.532													G|||	1	0.000199681	8e-04	0	5008	,	,		19667	0		0	False		,,,				2504	0					ENST00000368679.4																			4	Substitution - coding silent(4)	p.G623G(4)	prostate(4)	biliary_tract(1)|breast(7)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						c.(1867-1869)ggC>ggT		ADAM metallopeptidase domain 12							171	175	174					10																	127737879		2203	4300	6503	SO:0001819	synonymous_variant	8038				cell adhesion|epidermal growth factor receptor signaling pathway|myoblast fusion|proteolysis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|protein binding|SH3 domain binding|zinc ion binding	g.chr10:127737879G>A	AF023476	CCDS7653.1, CCDS7654.1	10q26	2008-07-29	2008-07-29		ENSG00000148848	ENSG00000148848		"ADAM metallopeptidase domain containing"	190	protein-coding gene	gene with protein product	"meltrin alpha"	602714	"a disintegrin and metalloproteinase domain 12 (meltrin alpha)"			9417060, 18342566	Standard	NM_003474		Approved	MCMPMltna, MLTN	uc001ljk.2	O43184	OTTHUMG00000019243	ENST00000368679.4:c.1869C>T	10.37:g.127737879G>A						ADAM12_ENST00000368676.4_Silent_p.G623G	p.G623G	NM_003474.4	NP_003465.3	O43184	ADA12_HUMAN		COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.216)	16	2178	-		all_epithelial(44;7.06e-05)|all_lung(145;0.00563)|Lung NSC(174;0.00834)|Colorectal(57;0.102)|all_neural(114;0.107)|Breast(234;0.22)	623			Cys-rich.		O60470|Q5JRP0|Q5JRP1|Q6P9E3|Q6UWB0	Silent	SNP	ENST00000368679.4	37	c.1869C>T	CCDS7653.1																																																																																				0.532	ADAM12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050961.1			139	266	0	0	0	1	0	139	266					A	127737879	G	A	127737879	2	1	34	1	0	0	0	0	0	0	0	1	236	1074	38	1		1	ADAM12	10	127737879	Silent	SNP	G	TCGA-CH-5768-01A-11D-1576-08	28975138	127737879	7796868	38	1702											
RAG1	5896	broad.mit.edu	37	chr11	36595189	36595189	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caaccttcgacatctctgccGcatctgtgggaattctttta	8	14	7	12	2	3	0	0	0	3	0	5	2	3	1	2	1	2	1	2	1	3	4	rs4151026		TCGA-CH-5768-01A-11D-1576-08	TCGA-CH-5768-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2aa9195-5cd4-4032-941e-90a1f724382c	5b3c1e73-475c-4b3b-a49a-0f11810c5223	g.chr11:36595189G>A	ENST00000299440.5	+	2	447	c.335G>A	c.(334-336)cGc>cAc	p.R112H		NM_000448.2	NP_000439	P15918	RAG1_HUMAN	recombination activating gene 1	112	Interaction with importin alpha-1.				adaptive immune response (GO:0002250)|B cell differentiation (GO:0030183)|DNA recombination (GO:0006310)|histone monoubiquitination (GO:0010390)|immune response (GO:0006955)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of thymocyte apoptotic process (GO:0070244)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|pre-B cell allelic exclusion (GO:0002331)|protein autoubiquitination (GO:0051865)|regulation of T cell differentiation (GO:0045580)|T cell differentiation in thymus (GO:0033077)|T cell homeostasis (GO:0043029)|thymus development (GO:0048538)|V(D)J recombination (GO:0033151)	nucleus (GO:0005634)	acid-amino acid ligase activity (GO:0016881)|DNA binding (GO:0003677)|endonuclease activity (GO:0004519)|histone binding (GO:0042393)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding (GO:0043565)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.R112L(1)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	65	all_lung(20;0.226)	all_hematologic(20;0.107)				CATCTCTGCCGCATCTGTGGG	0.453									Familial Hemophagocytic Lymphohistiocytosis																												Pancreas(43;321 1249 3212 48200)|Esophageal Squamous(38;49 1003 17530 24363)	ENST00000299440.5																			1	Substitution - Missense(1)	p.R112L(1)	lung(1)	NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	65						c.(334-336)cGc>cAc		recombination activating gene 1							111	106	107					11																	36595189		2202	4298	6500	SO:0001583	missense	5896	Familial Hemophagocytic Lymphohistiocytosis	Familial Cancer Database	FHLH, FHL, Familial Hemophagocytic Reticulosis, FHR	histone monoubiquitination|immune response|pre-B cell allelic exclusion|protein autoubiquitination|T cell differentiation in thymus|V(D)J recombination	nucleus	endonuclease activity|histone binding|protein homodimerization activity|sequence-specific DNA binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr11:36595189G>A	M29474	CCDS7902.1	11p13	2014-09-17				ENSG00000166349		"RING-type (C3HC4) zinc fingers"	9831	protein-coding gene	gene with protein product	"recombination activating protein 1", "RING finger protein 74", "V(D)J recombination-activating protein 1"	179615				1612612, 1283330	Standard	NM_000448		Approved	RNF74, MGC43321	uc001mwu.4	P15918		ENST00000299440.5:c.335G>A	11.37:g.36595189G>A	ENSP00000299440:p.Arg112His						p.R112H	NM_000448.2	NP_000439.1	P15918	RAG1_HUMAN			2	447	+	all_lung(20;0.226)	all_hematologic(20;0.107)	112			Interaction with importin alpha-1.		E9PPC4|Q8IY72|Q8NER2	Missense_Mutation	SNP	ENST00000299440.5	37	c.335G>A	CCDS7902.1	.	.	.	.	.	.	.	.	.	.	G	32	5.146608	0.94603	.	.	ENSG00000166349	ENST00000534663;ENST00000299440	T;T	0.74737	-0.87;-0.87	6.14	6.14	0.99180	.	0.000000	0.85682	D	0.000000	D	0.89976	0.6871	M	0.91090	3.175	0.80722	D	1	D	0.76494	0.999	D	0.76575	0.988	D	0.90685	0.4608	10	0.87932	D	0	.	20.8597	0.99761	0.0:0.0:1.0:0.0	.	112	P15918	RAG1_HUMAN	H	112	ENSP00000434610:R112H;ENSP00000299440:R112H	ENSP00000299440:R112H	R	+	2	0	RAG1	36551765	1.000000	0.71417	1.000000	0.80357	0.867000	0.49689	8.856000	0.92245	2.937000	0.99478	0.650000	0.86243	CGC		0.453	RAG1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389535.1	NM_000448		4	149	0	0	0	1	0	4	149					A	36595189	G	A	36595189	3	1	34	1	0	0	0	0	1	0	0	0	13003	1087	38	1	337	1	RAG1	11	36595189	Missense_Mutation	SNP	G	TCGA-CH-5768-01A-11D-1576-08		36595189	98411327	39	1703											
OR5B12	390191	broad.mit.edu	37	chr11	58206811	58206811	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tatggcatagaacacagatgCcattttgtctgtgcccatga	11	12	9	9	0	1	3	0	1	1	2	1	3	1	3	2	1	3	1	2	1	3	4			TCGA-CH-5768-01A-11D-1576-08	TCGA-CH-5768-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2aa9195-5cd4-4032-941e-90a1f724382c	5b3c1e73-475c-4b3b-a49a-0f11810c5223	g.chr11:58206811C>A	ENST00000302572.2	-	1	835	c.814G>T	c.(814-816)Gca>Tca	p.A272S		NM_001004733.2	NP_001004733.1	Q96R08	OR5BC_HUMAN	olfactory receptor, family 5, subfamily B, member 12	272						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A272S(1)		large_intestine(6)|liver(1)|lung(28)|ovary(1)|prostate(3)|skin(1)	40	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				AACACAGATGCCATTTTGTCT	0.433																																						ENST00000302572.2																			1	Substitution - Missense(1)	p.A272S(1)	prostate(1)	large_intestine(6)|liver(1)|lung(28)|ovary(1)|prostate(3)|skin(1)	40						c.(814-816)Gca>Tca		olfactory receptor, family 5, subfamily B, member 12							92	85	88					11																	58206811		2201	4295	6496	SO:0001583	missense	390191				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:58206811C>A	AB065851	CCDS31551.1	11q12.1	2012-08-09		2004-03-10	ENSG00000172362	ENSG00000172362		"GPCR / Class A : Olfactory receptors"	15432	protein-coding gene	gene with protein product				OR5B12P, OR5B16		12213199	Standard	NM_001004733		Approved	OST743	uc010rkh.2	Q96R08	OTTHUMG00000167543	ENST00000302572.2:c.814G>T	11.37:g.58206811C>A	ENSP00000306657:p.Ala272Ser						p.A272S	NM_001004733.2	NP_001004733.1	Q96R08	OR5BC_HUMAN			1	835	-	Esophageal squamous(5;0.0027)	Breast(21;0.0778)	272					B2RNL2|Q6IEV5	Missense_Mutation	SNP	ENST00000302572.2	37	c.814G>T	CCDS31551.1	.	.	.	.	.	.	.	.	.	.	C	11.70	1.716759	0.30413	.	.	ENSG00000172362	ENST00000302572	T	0.38240	1.15	4.29	4.29	0.51040	GPCR, rhodopsin-like superfamily (1);	0.000000	0.48286	D	0.000196	T	0.36608	0.0973	L	0.58583	1.82	0.09310	N	1	B	0.31790	0.34	B	0.37943	0.261	T	0.20974	-1.0259	10	0.27785	T	0.31	-12.2744	11.1101	0.48228	0.1852:0.8148:0.0:0.0	.	272	Q96R08	OR5BC_HUMAN	S	272	ENSP00000306657:A272S	ENSP00000306657:A272S	A	-	1	0	OR5B12	57963387	0.000000	0.05858	0.991000	0.47740	0.888000	0.51559	-0.106000	0.10890	2.378000	0.81104	0.455000	0.32223	GCA		0.433	OR5B12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394987.1	NM_001004733		6	107	1	0	0.217242	1	0.227712	6	107					A	58206811	C	A	58206811	3	1	34	1	0	0	0	0	1	0	0	0	11148	739	26	5	134	5	OR5B12	11	58206811	Missense_Mutation	SNP	C	TCGA-CH-5768-01A-11D-1576-08	21611622	58206811	76799705	40	1704											
AHNAK	79026	broad.mit.edu	37	chr11	62286704	62286704	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catccggccctgcgatgttgAcatctacatccggagccttg	7	10	10	14	3	1	1	0	1	1	0	3	3	3	2	4	2	3	1	4	2	1	3			TCGA-CH-5768-01A-11D-1576-08	TCGA-CH-5768-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2aa9195-5cd4-4032-941e-90a1f724382c	5b3c1e73-475c-4b3b-a49a-0f11810c5223	g.chr11:62286704A>C	ENST00000378024.4	-	5	15459	c.15185T>G	c.(15184-15186)gTc>gGc	p.V5062G	AHNAK_ENST00000525875.1_5'Flank|AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	5062					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)	p.V5062G(1)		NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				TGCGATGTTGACATCTACATC	0.463																																						ENST00000378024.4																			1	Substitution - Missense(1)	p.V5062G(1)	prostate(1)	NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268						c.(15184-15186)gTc>gGc		AHNAK nucleoprotein							158	164	162					11																	62286704		2202	4299	6501	SO:0001583	missense	79026				nervous system development	nucleus	protein binding	g.chr11:62286704A>C	M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"desmoyokin"	103390	"AHNAK nucleoprotein (desmoyokin)"			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.15185T>G	11.37:g.62286704A>C	ENSP00000367263:p.Val5062Gly					AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	p.V5062G	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN			5	15459	-		Melanoma(852;0.155)	5062					A1A586	Missense_Mutation	SNP	ENST00000378024.4	37	c.15185T>G	CCDS31584.1	.	.	.	.	.	.	.	.	.	.	A	9.175	1.022193	0.19433	.	.	ENSG00000124942	ENST00000378024	T	0.01313	5.02	4.86	4.86	0.63082	.	0.000000	0.38436	N	0.001688	T	0.03220	0.0094	M	0.84773	2.715	0.19300	N	0.999979	B	0.19706	0.038	B	0.24541	0.054	T	0.33085	-0.9882	10	0.19590	T	0.45	-14.6053	11.1731	0.48584	0.8461:0.1539:0.0:0.0	.	5062	Q09666	AHNK_HUMAN	G	5062	ENSP00000367263:V5062G	ENSP00000367263:V5062G	V	-	2	0	AHNAK	62043280	0.004000	0.15560	0.079000	0.20413	0.309000	0.27889	2.029000	0.41098	1.954000	0.56735	0.443000	0.29094	GTC		0.463	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060		7	408	0	0	0	1	0	7	408					C	62286704	A	C	62286704	3	2	34	1	0	0	0	0	1	0	0	0	414	275	10	5	2607	5	AHNAK	11	62286704	Missense_Mutation	SNP	A	TCGA-CH-5768-01A-11D-1576-08	4079893	62286704	72719812	41	1705											
B3GAT3	26229	broad.mit.edu	37	chr11	62389399	62389399	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aggaagtaggcgagaaacacGttcttcagcttcagcttcat	12	10	10	9	2	4	1	3	0	1	1	4	3	4	2	0	2	3	4	0	2	3	5			TCGA-CH-5768-01A-11D-1576-08	TCGA-CH-5768-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2aa9195-5cd4-4032-941e-90a1f724382c	5b3c1e73-475c-4b3b-a49a-0f11810c5223	g.chr11:62389399G>T	ENST00000265471.5	-	1	248	c.21C>A	c.(19-21)aaC>aaA	p.N7K	B3GAT3_ENST00000531383.1_Missense_Mutation_p.N7K|B3GAT3_ENST00000534026.1_Missense_Mutation_p.N7K	NM_012200.3	NP_036332.2	O94766	B3GA3_HUMAN	beta-1,3-glucuronyltransferase 3	7					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|chondroitin sulfate proteoglycan biosynthetic process (GO:0050650)|dermatan sulfate proteoglycan biosynthetic process (GO:0050651)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|protein glycosylation (GO:0006486)|small molecule metabolic process (GO:0044281)	cis-Golgi network (GO:0005801)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity (GO:0015018)|glucuronosyltransferase activity (GO:0015020)|metal ion binding (GO:0046872)	p.N7K(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(2)|urinary_tract(1)	12						CGAGAAACACGTTCTTCAGCT	0.726																																						ENST00000531383.1																			1	Substitution - Missense(1)	p.N7K(1)	prostate(1)	endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(2)|urinary_tract(1)	12						c.(19-21)aaC>aaA		beta-1,3-glucuronyltransferase 3 (glucuronosyltransferase I)							49	44	45					11																	62389399		2202	4296	6498	SO:0001583	missense	26229				glycosaminoglycan biosynthetic process	Golgi membrane|integral to membrane	galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity|manganese ion binding	g.chr11:62389399G>T	AB009598	CCDS8025.1	11q12	2014-07-08	2014-07-08		ENSG00000149541	ENSG00000149541	2.4.1.135	"Beta-1,3-glucuronyltransferases"	923	protein-coding gene	gene with protein product	"glucuronosyltransferase I", "galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase 3"	606374	"beta-1,3-glucuronyltransferase 3 (glucuronosyltransferase I)"			9506957	Standard	NM_012200		Approved	GlcAT-I	uc001ntw.3	O94766	OTTHUMG00000167685	ENST00000265471.5:c.21C>A	11.37:g.62389399G>T	ENSP00000265471:p.Asn7Lys					B3GAT3_ENST00000265471.5_Missense_Mutation_p.N7K|B3GAT3_ENST00000534026.1_Missense_Mutation_p.N7K	p.N7K			O94766	B3GA3_HUMAN			1	227	-			7					B7ZAB3|Q96I06|Q9UEP0	Missense_Mutation	SNP	ENST00000265471.5	37	c.21C>A	CCDS8025.1	.	.	.	.	.	.	.	.	.	.	G	15.16	2.752473	0.49362	.	.	ENSG00000149541	ENST00000265471;ENST00000531383;ENST00000534026;ENST00000534715	T;T;T;T	0.62941	0.01;-0.0;-0.01;0.8	4.79	1.93	0.25924	.	0.797441	0.11288	N	0.579609	T	0.44561	0.1299	N	0.19112	0.55	0.36354	D	0.860295	P;B	0.52842	0.956;0.066	P;B	0.46758	0.526;0.028	T	0.45308	-0.9270	10	0.07030	T	0.85	.	6.7369	0.23415	0.2858:0.0:0.7142:0.0	.	7;7	B7ZAB3;O94766	.;B3GA3_HUMAN	K	7	ENSP00000265471:N7K;ENSP00000431359:N7K;ENSP00000432474:N7K;ENSP00000432854:N7K	ENSP00000265471:N7K	N	-	3	2	B3GAT3	62145975	0.998000	0.40836	1.000000	0.80357	0.986000	0.74619	0.253000	0.18296	0.252000	0.21531	-0.266000	0.10368	AAC		0.726	B3GAT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395588.1	NM_012200		9	19	1	0	6.40141e-05	1	7.14004e-05	9	19					T	62389399	G	T	62389399	3	4	34	1	0	0	0	0	1	0	0	0	1255	1136	40	5	1006	5	B3GAT3	11	62389399	Missense_Mutation	SNP	G	TCGA-CH-5768-01A-11D-1576-08	102695	62389399	72617117	42	1706											
MAP6	4135	broad.mit.edu	37	chr11	75316878	75316878	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcctcagccagtttattgtTcatctctttgctttgctcct	4	18	6	13	1	3	0	2	0	1	0	5	0	4	0	3	0	3	4	3	0	1	6			TCGA-CH-5768-01A-11D-1576-08	TCGA-CH-5768-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2aa9195-5cd4-4032-941e-90a1f724382c	5b3c1e73-475c-4b3b-a49a-0f11810c5223	g.chr11:75316878T>G	ENST00000304771.3	-	3	2041	c.1291A>C	c.(1291-1293)Aac>Cac	p.N431H	MAP6_ENST00000434603.2_Missense_Mutation_p.N431H|MAP6_ENST00000526740.1_Missense_Mutation_p.N102H	NM_033063.1	NP_149052.1	Q96JE9	MAP6_HUMAN	microtubule-associated protein 6	431					dendrite morphogenesis (GO:0048813)|lysosome localization (GO:0032418)|microtubule cytoskeleton organization (GO:0000226)|transport (GO:0006810)	Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|perinuclear region of cytoplasm (GO:0048471)		p.N431H(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|skin(1)|urinary_tract(1)	19	Ovarian(111;0.11)					AGTTTATTGTTCATCTCTTTG	0.488																																					Esophageal Squamous(181;1115 2007 8647 17065 22697)	ENST00000434603.2																			1	Substitution - Missense(1)	p.N431H(1)	prostate(1)	central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|skin(1)|urinary_tract(1)	19						c.(1291-1293)Aac>Cac		microtubule-associated protein 6							166	139	148					11																	75316878		2200	4293	6493	SO:0001583	missense	4135					Golgi apparatus|microtubule|perinuclear region of cytoplasm	calmodulin binding	g.chr11:75316878T>G	AK123340	CCDS31641.1, CCDS44686.1	11q13.5	2005-10-11			ENSG00000171533	ENSG00000171533			6868	protein-coding gene	gene with protein product		601783				10516426, 12231625	Standard	NM_207577		Approved	KIAA1878, STOP, FLJ41346	uc001owu.3	Q96JE9	OTTHUMG00000165343	ENST00000304771.3:c.1291A>C	11.37:g.75316878T>G	ENSP00000307093:p.Asn431His					MAP6_ENST00000304771.3_Missense_Mutation_p.N431H|MAP6_ENST00000526740.1_Missense_Mutation_p.N102H	p.N431H	NM_207577.1	NP_997460.1	Q96JE9	MAP6_HUMAN			3	1355	-	Ovarian(111;0.11)		431					A7E2A1|Q6P3T0|Q6ZWB8	Missense_Mutation	SNP	ENST00000304771.3	37	c.1291A>C	CCDS31641.1	.	.	.	.	.	.	.	.	.	.	T	23.4	4.410650	0.83340	.	.	ENSG00000171533	ENST00000304771;ENST00000526740;ENST00000545476;ENST00000434603	T;T	0.53423	0.62;0.7	5.39	5.39	0.77823	.	0.000000	0.52532	D	0.000073	T	0.61937	0.2387	M	0.64997	1.995	0.46241	D	0.998942	D	0.89917	1.0	D	0.69142	0.962	T	0.57670	-0.7771	10	0.15499	T	0.54	-21.1195	14.5299	0.67917	0.0:0.0:0.0:1.0	.	431	Q96JE9	MAP6_HUMAN	H	431;102;102;431	ENSP00000307093:N431H;ENSP00000415108:N431H	ENSP00000307093:N431H	N	-	1	0	MAP6	74994526	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.655000	0.83696	2.162000	0.67917	0.533000	0.62120	AAC		0.488	MAP6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000383527.1	NM_033063		5	257	0	0	0	1	0	5	257					G	75316878	T	G	75316878	3	3	34	1	0	0	0	0	1	0	0	0	9264	1783	62	5	1162	5	MAP6	11	75316878	Missense_Mutation	SNP	T	TCGA-CH-5768-01A-11D-1576-08	12927479	75316878	59689638	43	1707											
USP5	8078	broad.mit.edu	37	chr12	6964975	6964975	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ccccggaagaagcccacgcgGctggctattggtgagcaccg	8	5	14	14	4	0	2	0	1	0	1	0	3	0	3	4	4	2	3	4	4	3	2	rs371575316		TCGA-CH-5768-01A-11D-1576-08	TCGA-CH-5768-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2aa9195-5cd4-4032-941e-90a1f724382c	5b3c1e73-475c-4b3b-a49a-0f11810c5223	g.chr12:6964975G>A	ENST00000229268.8	+	3	346	c.294G>A	c.(292-294)cgG>cgA	p.R98R	USP5_ENST00000389231.5_Silent_p.R98R	NM_001098536.1	NP_001092006.1	P45974	UBP5_HUMAN	ubiquitin specific peptidase 5 (isopeptidase T)	98					positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|protein K48-linked deubiquitination (GO:0071108)|ubiquitin-dependent protein catabolic process (GO:0006511)	lysosome (GO:0005764)	cysteine-type endopeptidase activity (GO:0004197)|omega peptidase activity (GO:0008242)|ubiquitin thiolesterase activity (GO:0004221)|zinc ion binding (GO:0008270)			breast(6)|endometrium(4)|kidney(2)|large_intestine(6)|lung(14)|skin(2)|urinary_tract(2)	36						AGCCCACGCGGCTGGCTATTG	0.582																																						ENST00000229268.8																			0				breast(6)|endometrium(4)|kidney(2)|large_intestine(6)|lung(14)|skin(2)|urinary_tract(2)	36						c.(292-294)cgG>cgA		ubiquitin specific peptidase 5 (isopeptidase T)		G	,	0,4406		0,0,2203	57	62	60		294,294	-1.1	1	12		60	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	USP5	NM_001098536.1,NM_003481.2	,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,	98/859,98/836	6964975	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0				positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process	lysosome	cysteine-type endopeptidase activity|omega peptidase activity|protein binding|ubiquitin thiolesterase activity|zinc ion binding	g.chr12:6964975G>A	U35116	CCDS31733.1, CCDS41743.1	12p13	2007-03-02	2005-08-08		ENSG00000111667	ENSG00000111667		"Ubiquitin-specific peptidases"	12628	protein-coding gene	gene with protein product		601447	"ubiquitin specific protease 5 (isopeptidase T)"			12838346, 8723724	Standard	NM_003481		Approved	IsoT	uc001qri.4	P45974	OTTHUMG00000169233	ENST00000229268.8:c.294G>A	12.37:g.6964975G>A						USP5_ENST00000389231.5_Silent_p.R98R	p.R98R	NM_001098536.1	NP_001092006.1	P45974	UBP5_HUMAN			3	346	+			98					D3DUS7|D3DUS8|Q96J22	Silent	SNP	ENST00000229268.8	37	c.294G>A	CCDS41743.1																																																																																				0.582	USP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402982.1			4	159	0	0	0	1	0	4	159					A	6964975	G	A	6964975	2	1	34	1	0	0	0	0	0	0	0	1	17078	1190	42	3		3	USP5	12	6964975	Silent	SNP	G	TCGA-CH-5768-01A-11D-1576-08		6964975	126886920	44	1708											
LRP1	4035	broad.mit.edu	37	chr12	57587385	57587385	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaagactttccggcagtgcaGcaatgggcgctgtgtgtcca	8	9	14	10	2	0	1	0	0	0	1	2	2	2	1	2	2	2	4	2	2	2	1			TCGA-CH-5768-01A-11D-1576-08	TCGA-CH-5768-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2aa9195-5cd4-4032-941e-90a1f724382c	5b3c1e73-475c-4b3b-a49a-0f11810c5223	g.chr12:57587385G>A	ENST00000243077.3	+	47	8187	c.7721G>A	c.(7720-7722)aGc>aAc	p.S2574N	MIR1228_ENST00000408438.1_RNA	NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	2574	LDL-receptor class A 12. {ECO:0000255|PROSITE-ProRule:PRU00124}.				aging (GO:0007568)|aorta morphogenesis (GO:0035909)|apoptotic cell clearance (GO:0043277)|beta-amyloid clearance (GO:0097242)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of platelet-derived growth factor receptor-beta signaling pathway (GO:2000587)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of Wnt signaling pathway (GO:0030178)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of lipid transport (GO:0032370)|positive regulation of protein transport (GO:0051222)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|receptor-mediated endocytosis (GO:0006898)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cholesterol transport (GO:0032374)|regulation of phospholipase A2 activity (GO:0032429)|retinoid metabolic process (GO:0001523)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|lipoprotein particle receptor binding (GO:0070325)|lipoprotein transporter activity (GO:0042954)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|receptor activity (GO:0004872)	p.S2574N(1)		NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	CGGCAGTGCAGCAATGGGCGC	0.612																																						ENST00000243077.3																			1	Substitution - Missense(1)	p.S2574N(1)	prostate(1)	NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184						c.(7720-7722)aGc>aAc		low density lipoprotein receptor-related protein 1	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)						77	69	72					12																	57587385		2203	4300	6503	SO:0001583	missense	4035				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity	g.chr12:57587385G>A	X13916	CCDS8932.1	12q13.3	2013-05-28	2010-01-26		ENSG00000123384	ENSG00000123384		"CD molecules", "Low density lipoprotein receptors"	6692	protein-coding gene	gene with protein product		107770	"alpha-2-macroglobulin receptor"	APR, A2MR		2548950	Standard	NM_002332		Approved	LRP, CD91, LRP1A, APOER	uc001snd.3	Q07954	OTTHUMG00000044412	ENST00000243077.3:c.7721G>A	12.37:g.57587385G>A	ENSP00000243077:p.Ser2574Asn						p.S2574N	NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.0103)	47	8187	+			2574			LDL-receptor class A 12.		Q2PP12|Q86SW0|Q8IVG8	Missense_Mutation	SNP	ENST00000243077.3	37	c.7721G>A	CCDS8932.1	.	.	.	.	.	.	.	.	.	.	G	10.54	1.377696	0.24944	.	.	ENSG00000123384	ENST00000243077	D	0.95412	-3.7	5.01	-2.31	0.06765	.	0.394104	0.24309	N	0.039648	D	0.85873	0.5798	N	0.16266	0.395	0.80722	D	1	B	0.09022	0.002	B	0.06405	0.002	T	0.67887	-0.5554	10	0.16896	T	0.51	.	5.5753	0.17220	0.3625:0.0:0.4302:0.2073	.	2574	Q07954	LRP1_HUMAN	N	2574	ENSP00000243077:S2574N	ENSP00000243077:S2574N	S	+	2	0	LRP1	55873652	0.001000	0.12720	0.978000	0.43139	0.458000	0.32498	0.004000	0.13106	-0.521000	0.06426	-0.982000	0.02568	AGC		0.612	LRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412772.2	NM_002332		3	48	0	0	0	1	0	3	48					A	57587385	G	A	57587385	3	1	34	1	0	0	0	0	1	0	0	0	8951	971	34	3	7907	3	LRP1	12	57587385	Missense_Mutation	SNP	G	TCGA-CH-5768-01A-11D-1576-08	50622410	57587385	76264510	45	1709											
USP15	9958	broad.mit.edu	37	chr12	62784708	62784708	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctacactgctgtaaggacCaaaatattaatgggaatggc	14	9	9	9	0	0	0	0	0	0	0	0	2	0	2	2	3	2	2	2	3	7	4			TCGA-CH-5768-01A-11D-1576-08	TCGA-CH-5768-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2aa9195-5cd4-4032-941e-90a1f724382c	5b3c1e73-475c-4b3b-a49a-0f11810c5223	g.chr12:62784708C>A	ENST00000280377.5	+	15	1967	c.1909C>A	c.(1909-1911)Caa>Aaa	p.Q637K	USP15_ENST00000353364.3_Missense_Mutation_p.Q608K|USP15_ENST00000393654.3_Missense_Mutation_p.Q612K	NM_001252078.1	NP_001239007.1	Q9Y4E8	UBP15_HUMAN	ubiquitin specific peptidase 15	637	USP.				BMP signaling pathway (GO:0030509)|monoubiquitinated protein deubiquitination (GO:0035520)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|protein deubiquitination (GO:0016579)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|identical protein binding (GO:0042802)|SMAD binding (GO:0046332)|transforming growth factor beta receptor binding (GO:0005160)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)	p.Q608K(2)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(15)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	37			GBM - Glioblastoma multiforme(1;0.000276)	GBM - Glioblastoma multiforme(28;0.0622)		CTGTAAGGACCAAAATATTAA	0.348																																					Melanoma(181;615 2041 39364 49691 50001)	ENST00000280377.5																			2	Substitution - Missense(2)	p.Q608K(2)	prostate(2)	breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(15)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	37						c.(1909-1911)Caa>Aaa		ubiquitin specific peptidase 15							72	70	71					12																	62784708		2203	4300	6503	SO:0001583	missense	9958				protein deubiquitination|ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr12:62784708C>A	AB011101	CCDS8963.1, CCDS58250.1, CCDS58251.1	12q14	2006-07-18	2005-08-08					"Ubiquitin-specific peptidases"	12613	protein-coding gene	gene with protein product		604731	"ubiquitin specific protease 15"			12838346	Standard	NM_001252078		Approved	KIAA0529, UNPH4	uc001src.2	Q9Y4E8	OTTHUMG00000170186	ENST00000280377.5:c.1909C>A	12.37:g.62784708C>A	ENSP00000280377:p.Gln637Lys					USP15_ENST00000353364.3_Missense_Mutation_p.Q608K|USP15_ENST00000393654.3_Missense_Mutation_p.Q612K	p.Q637K	NM_001252078.1	NP_001239007.1	Q9Y4E8	UBP15_HUMAN	GBM - Glioblastoma multiforme(1;0.000276)	GBM - Glioblastoma multiforme(28;0.0622)	15	1967	+			637					Q08AL5|Q9H8G9|Q9HCA6|Q9UNP0|Q9Y5B5	Missense_Mutation	SNP	ENST00000280377.5	37	c.1909C>A	CCDS58251.1	.	.	.	.	.	.	.	.	.	.	C	5.020	0.189294	0.09547	.	.	ENSG00000135655	ENST00000353364;ENST00000280377;ENST00000393654	T;T;T	0.17854	2.26;2.25;2.26	5.7	5.7	0.88788	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.394679	0.27778	N	0.017894	T	0.11024	0.0269	N	0.12471	0.22	0.36521	D	0.870184	B;B	0.13594	0.001;0.008	B;B	0.19666	0.007;0.026	T	0.25745	-1.0123	9	.	.	.	-11.7692	15.4349	0.75137	0.1395:0.8605:0.0:0.0	.	637;608	Q9Y4E8;Q9Y4E8-2	UBP15_HUMAN;.	K	608;637;612	ENSP00000258123:Q608K;ENSP00000280377:Q637K;ENSP00000377264:Q612K	.	Q	+	1	0	USP15	61070975	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	3.749000	0.55150	2.690000	0.91761	0.460000	0.39030	CAA		0.348	USP15-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000407831.2	NM_006313		3	104	1	0	1	1	1	3	104					A	62784708	C	A	62784708	3	1	34	1	0	0	0	0	1	0	0	0	17043	595	21	5	1876	5	USP15	12	62784708	Missense_Mutation	SNP	C	TCGA-CH-5768-01A-11D-1576-08	5197323	62784708	71067187	46	1710											
POLE	5426	broad.mit.edu	37	chr12	133249852	133249852	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acagcatctgacacagaataCgtggccagagtctgaggaga	14	6	12	9	1	2	5	0	2	2	3	2	6	2	5	1	2	2	1	1	2	2	1			TCGA-CH-5768-01A-11D-1576-08	TCGA-CH-5768-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2aa9195-5cd4-4032-941e-90a1f724382c	5b3c1e73-475c-4b3b-a49a-0f11810c5223	g.chr12:133249852C>T	ENST00000320574.5	-	14	1414	c.1371G>A	c.(1369-1371)acG>acA	p.T457T	POLE_ENST00000535270.1_Silent_p.T430T	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit	457					base-excision repair, gap-filling (GO:0006287)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA synthesis involved in DNA repair (GO:0000731)|G1/S transition of mitotic cell cycle (GO:0000082)|in utero embryonic development (GO:0001701)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	cytoplasm (GO:0005737)|epsilon DNA polymerase complex (GO:0008622)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	4 iron, 4 sulfur cluster binding (GO:0051539)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|nucleotide binding (GO:0000166)|zinc ion binding (GO:0008270)	p.T457T(3)		NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)	Cladribine(DB00242)	ACACAGAATACGTGGCCAGAG	0.527								DNA polymerases (catalytic subunits)																														ENST00000320574.5																			3	Substitution - coding silent(3)	p.T457T(3)	prostate(3)	NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89						c.(1369-1371)acG>acA	DNA polymerases (catalytic subunits)	polymerase (DNA directed), epsilon, catalytic subunit							175	148	157					12																	133249852		2203	4300	6503	SO:0001819	synonymous_variant	5426				base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding	g.chr12:133249852C>T		CCDS9278.1	12q24.3	2014-09-17	2012-05-18		ENSG00000177084	ENSG00000177084		"DNA polymerases"	9177	protein-coding gene	gene with protein product	"DNA polymerase epsilon catalytic subunit A"	174762	"polymerase (DNA directed), epsilon"			8020968	Standard	NM_006231		Approved	POLE1	uc001uks.1	Q07864	OTTHUMG00000168045	ENST00000320574.5:c.1371G>A	12.37:g.133249852C>T						POLE_ENST00000535270.1_Silent_p.T430T	p.T457T	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)	14	1414	-	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)	457					Q13533|Q86VH9	Silent	SNP	ENST00000320574.5	37	c.1371G>A	CCDS9278.1																																																																																				0.527	POLE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397689.2	NM_006231		45	76	0	0	0	1	0	45	76					T	133249852	C	T	133249852	2	4	34	1	0	0	0	0	0	0	0	1	12196	523	19	1		1	POLE	12	133249852	Silent	SNP	C	TCGA-CH-5768-01A-11D-1576-08	70465144	133249852	602043	47	1711											
FRY	10129	broad.mit.edu	37	chr13	32759237	32759237	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgaaattcttaaagatatcCgggcacattttagtgcaatg	13	14	8	6	1	1	2	0	1	1	1	2	2	2	2	1	1	1	2	1	1	6	6			TCGA-CH-5768-01A-11D-1576-08	TCGA-CH-5768-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2aa9195-5cd4-4032-941e-90a1f724382c	5b3c1e73-475c-4b3b-a49a-0f11810c5223	g.chr13:32759237C>T	ENST00000380250.3	+	26	3767	c.3271C>T	c.(3271-3273)Cgg>Tgg	p.R1091W		NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	1091						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)		p.R1091W(1)		NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		TAAAGATATCCGGGCACATTT	0.428																																						ENST00000380250.3																			1	Substitution - Missense(1)	p.R1091W(1)	prostate(1)	NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132						c.(3271-3273)Cgg>Tgg		furry homolog (Drosophila)							87	84	85					13																	32759237		1897	4106	6003	SO:0001583	missense	10129				regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane		g.chr13:32759237C>T	AL049784	CCDS41875.1	13q13.1	2008-02-05	2005-11-24	2005-11-24	ENSG00000073910	ENSG00000073910			20367	protein-coding gene	gene with protein product		614818	"chromosome 13 open reading frame 14"	C13orf14		14702039, 8812419	Standard	NM_023037		Approved	bA37E23.1, 13CDNA73, CG003	uc001utx.3	Q5TBA9	OTTHUMG00000016696	ENST00000380250.3:c.3271C>T	13.37:g.32759237C>T	ENSP00000369600:p.Arg1091Trp						p.R1091W	NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)	26	3767	+		Lung SC(185;0.0271)	1091					Q9Y3N6	Missense_Mutation	SNP	ENST00000380250.3	37	c.3271C>T	CCDS41875.1	.	.	.	.	.	.	.	.	.	.	C	20.1	3.935068	0.73442	.	.	ENSG00000073910	ENST00000380250	T	0.54279	0.58	5.37	4.46	0.54185	.	0.000000	0.85682	D	0.000000	T	0.69913	0.3164	M	0.71581	2.175	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	T	0.73069	-0.4099	10	0.87932	D	0	.	13.7808	0.63081	0.224:0.776:0.0:0.0	.	1091	Q5TBA9	FRY_HUMAN	W	1091	ENSP00000369600:R1091W	ENSP00000369600:R1091W	R	+	1	2	FRY	31657237	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.915000	0.39976	2.675000	0.91044	0.650000	0.86243	CGG		0.428	FRY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044405.1	NM_023037		14	200	0	0	0	1	0	14	200					T	32759237	C	T	32759237	3	4	34	1	0	0	0	0	1	0	0	0	6063	643	23	2	3373	2	FRY	13	32759237	Missense_Mutation	SNP	C	TCGA-CH-5768-01A-11D-1576-08		32759237	82410641	48	1712											
RPGRIP1	57096	broad.mit.edu	37	chr14	21796693	21796693	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gagcaccaggttgtgagctaCtcaagaagaaaacatggcaa	16	6	11	8	0	1	3	1	1	0	2	1	4	1	3	1	2	4	4	1	2	6	2	rs374509235		TCGA-CH-5768-01A-11D-1576-08	TCGA-CH-5768-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2aa9195-5cd4-4032-941e-90a1f724382c	5b3c1e73-475c-4b3b-a49a-0f11810c5223	g.chr14:21796693C>A	ENST00000400017.2	+	18	3006	c.3006C>A	c.(3004-3006)taC>taA	p.Y1002*	RPGRIP1_ENST00000556336.1_Nonsense_Mutation_p.Y659*|RPGRIP1_ENST00000557771.1_Nonsense_Mutation_p.Y964*|RPGRIP1_ENST00000307974.4_Nonsense_Mutation_p.Y361*|RPGRIP1_ENST00000382933.4_Nonsense_Mutation_p.Y328*|RPGRIP1_ENST00000206660.6_Nonsense_Mutation_p.Y1002*	NM_020366.3	NP_065099.3	Q96KN7	RPGR1_HUMAN	retinitis pigmentosa GTPase regulator interacting protein 1	1002					eye photoreceptor cell development (GO:0042462)|response to stimulus (GO:0050896)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	axoneme (GO:0005930)|nonmotile primary cilium (GO:0031513)		p.Y618*(1)|p.Y1002*(1)		breast(3)|endometrium(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(4)|pancreas(1)|prostate(3)|stomach(1)	39	all_cancers(95;0.0017)	all_cancers(140;0.0973)	Epithelial(56;6.24e-07)|all cancers(55;6.56e-06)	GBM - Glioblastoma multiforme(265;0.00888)		TTGTGAGCTACTCAAGAAGAA	0.428																																						ENST00000206660.6																			2	Substitution - Nonsense(2)	p.Y618*(1)|p.Y1002*(1)	prostate(2)	breast(3)|endometrium(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(4)|pancreas(1)|prostate(3)|stomach(1)	39						c.(3004-3006)taC>taA		retinitis pigmentosa GTPase regulator interacting protein 1							100	95	97					14																	21796693		1864	4112	5976	SO:0001587	stop_gained	57096				response to stimulus|visual perception	cilium		g.chr14:21796693C>A	AF227257	CCDS45080.1	14q11.2	2013-06-06			ENSG00000092200	ENSG00000092200			13436	protein-coding gene	gene with protein product		605446		RPGRIP		10958647, 10958648	Standard	NM_020366		Approved	RGI1, LCA6, CORD13	uc001wag.3	Q96KN7	OTTHUMG00000170758	ENST00000400017.2:c.3006C>A	14.37:g.21796693C>A	ENSP00000382895:p.Tyr1002*					RPGRIP1_ENST00000400017.2_Nonsense_Mutation_p.Y1002*|RPGRIP1_ENST00000557771.1_Nonsense_Mutation_p.Y964*|RPGRIP1_ENST00000382933.4_Nonsense_Mutation_p.Y328*|RPGRIP1_ENST00000307974.4_Nonsense_Mutation_p.Y361*|RPGRIP1_ENST00000556336.1_Nonsense_Mutation_p.Y659*	p.Y1002*			Q96KN7	RPGR1_HUMAN	Epithelial(56;6.24e-07)|all cancers(55;6.56e-06)	GBM - Glioblastoma multiforme(265;0.00888)	18	3006	+	all_cancers(95;0.0017)	all_cancers(140;0.0973)	1002			Interaction with RPGR.		Q7Z2W6|Q8IXV5|Q96QA8|Q9HB94|Q9HB95|Q9HBK6|Q9NR40	Nonsense_Mutation	SNP	ENST00000400017.2	37	c.3006C>A	CCDS45080.1	.	.	.	.	.	.	.	.	.	.	C	40	8.192122	0.98699	.	.	ENSG00000092200	ENST00000556336;ENST00000557771;ENST00000400017;ENST00000206660;ENST00000382933;ENST00000555587;ENST00000307974	.	.	.	4.74	2.76	0.32466	.	0.704071	0.13523	N	0.381547	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-11.9953	5.7332	0.18051	0.0:0.7554:0.0:0.2446	.	.	.	.	X	659;964;1002;1002;328;477;361	.	ENSP00000206660:Y1002X	Y	+	3	2	RPGRIP1	20866533	1.000000	0.71417	0.998000	0.56505	0.791000	0.44710	0.725000	0.25970	1.233000	0.43693	0.650000	0.86243	TAC		0.428	RPGRIP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410258.1	NM_020366		3	110	1	0	0.115264	1	0.122292	3	110					A	21796693	C	A	21796693	4	1	34	1	0	0	0	0	0	1	0	0	13549	576	20	5	3076	5	RPGRIP1	14	21796693	Nonsense_Mutation	SNP	C	TCGA-CH-5768-01A-11D-1576-08		21796693	85552847	49	1713											
ZFP36L1	677	broad.mit.edu	37	chr14	69256543	69256543	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	attggtgccatcgggcagggTaggtgagcccaggaggtcat	8	8	17	8	1	1	1	1	1	0	0	2	2	1	2	2	6	2	2	2	6	1	2			TCGA-CH-5768-01A-11D-1576-08	TCGA-CH-5768-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2aa9195-5cd4-4032-941e-90a1f724382c	5b3c1e73-475c-4b3b-a49a-0f11810c5223	g.chr14:69256543T>C	ENST00000439696.2	-	2	1025	c.724A>G	c.(724-726)Acc>Gcc	p.T242A	ZFP36L1_ENST00000336440.3_Missense_Mutation_p.T242A|ZFP36L1_ENST00000555997.1_3'UTR	NM_001244701.1|NM_004926.3	NP_001231630.1|NP_004917.2	Q07352	TISB_HUMAN	ZFP36 ring finger protein-like 1	242					gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|regulation of mRNA stability (GO:0043488)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|T cell differentiation in thymus (GO:0033077)|vasculogenesis (GO:0001570)	cytosol (GO:0005829)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.T242A(1)		breast(4)|kidney(1)|large_intestine(1)|liver(2)|lung(9)|ovary(1)|prostate(2)|urinary_tract(1)	21				all cancers(60;0.00203)|BRCA - Breast invasive adenocarcinoma(234;0.00205)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)		TCGGGCAGGGTAGGTGAGCCC	0.677											OREG0022753	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000439696.2																			1	Substitution - Missense(1)	p.T242A(1)	prostate(1)	breast(4)|kidney(1)|large_intestine(1)|liver(2)|lung(9)|ovary(1)|prostate(2)|urinary_tract(1)	21						c.(724-726)Acc>Gcc		ZFP36 ring finger protein-like 1							75	87	83					14																	69256543		2202	4300	6502	SO:0001583	missense	677				regulation of mRNA stability	cytosol|nucleus	DNA binding|mRNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr14:69256543T>C	X79066	CCDS9791.1	14q22-q24	2012-11-27	2012-11-27	2001-11-23		ENSG00000185650		"RING-type (C3HC4) zinc fingers"	1107	protein-coding gene	gene with protein product		601064	"zinc finger protein, C3H type, 36-like 1", "zinc finger protein 36, C3H type-like 1"	BRF1		8024689	Standard	NM_004926		Approved	RNF162B, Berg36, ERF1, TIS11B, cMG1	uc021rve.1	Q07352		ENST00000439696.2:c.724A>G	14.37:g.69256543T>C	ENSP00000388402:p.Thr242Ala		OREG0022753	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1113	ZFP36L1_ENST00000555997.1_3'UTR|ZFP36L1_ENST00000336440.3_Missense_Mutation_p.T242A	p.T242A	NM_001244701.1|NM_004926.3	NP_001231630.1|NP_004917.2	Q07352	TISB_HUMAN		all cancers(60;0.00203)|BRCA - Breast invasive adenocarcinoma(234;0.00205)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)	2	1025	-			242					Q13851	Missense_Mutation	SNP	ENST00000439696.2	37	c.724A>G	CCDS9791.1	.	.	.	.	.	.	.	.	.	.	T	11.15	1.555284	0.27739	.	.	ENSG00000185650	ENST00000439696;ENST00000336440;ENST00000435246	T;T	0.28666	1.6;1.6	4.64	3.47	0.39725	.	0.000000	0.48767	D	0.000162	T	0.26738	0.0654	N	0.16790	0.44	0.80722	D	1	D	0.57257	0.979	P	0.54924	0.764	T	0.01920	-1.1247	10	0.12103	T	0.63	-16.5423	11.5294	0.50599	0.0:0.0:0.1501:0.8499	.	242	Q07352	TISB_HUMAN	A	242;242;225	ENSP00000388402:T242A;ENSP00000337386:T242A	ENSP00000337386:T242A	T	-	1	0	ZFP36L1	68326296	1.000000	0.71417	0.996000	0.52242	0.829000	0.46940	7.301000	0.78850	0.790000	0.33803	0.477000	0.44152	ACC		0.677	ZFP36L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413227.1			5	179	0	0	0	1	0	5	179					C	69256543	T	C	69256543	3	2	34	1	0	0	0	0	1	0	0	0	17643	1638	57	4	296	4	ZFP36L1	14	69256543	Missense_Mutation	SNP	T	TCGA-CH-5768-01A-11D-1576-08	47459850	69256543	38092997	50	1714											
AHNAK2	113146	broad.mit.edu	37	chr14	105406624	105406624	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ctgtgtcttgaaagctacccCctgctgtggcactagaaagg	9	10	11	11	0	1	2	0	1	1	1	1	2	1	2	2	2	3	3	2	2	4	3			TCGA-CH-5768-01A-11D-1576-08	TCGA-CH-5768-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2aa9195-5cd4-4032-941e-90a1f724382c	5b3c1e73-475c-4b3b-a49a-0f11810c5223	g.chr14:105406624C>G	ENST00000333244.5	-	7	15283	c.15164G>C	c.(15163-15165)gGg>gCg	p.G5055A	AHNAK2_ENST00000557457.1_Missense_Mutation_p.G53A	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	5055						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)		p.G25A(1)|p.G5055A(1)		cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			AAAGCTACCCCCTGCTGTGGC	0.547																																						ENST00000333244.5																			2	Substitution - Missense(2)	p.G25A(1)|p.G5055A(1)	prostate(2)	cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33						c.(15163-15165)gGg>gCg		AHNAK nucleoprotein 2							110	116	114					14																	105406624		2038	4188	6226	SO:0001583	missense	113146					nucleus		g.chr14:105406624C>G	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"chromosome 14 open reading frame 78"	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.15164G>C	14.37:g.105406624C>G	ENSP00000353114:p.Gly5055Ala					AHNAK2_ENST00000557457.1_Missense_Mutation_p.G53A	p.G5055A	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)		7	15283	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	5055					Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	ENST00000333244.5	37	c.15164G>C	CCDS45177.1	.	.	.	.	.	.	.	.	.	.	C	8.640	0.895810	0.17686	.	.	ENSG00000185567	ENST00000557457;ENST00000333244	T;T	0.03386	3.95;3.95	2.85	-5.69	0.02428	.	1.142550	0.07163	U	0.851034	T	0.02156	0.0067	L	0.27053	0.805	0.09310	N	1	B	0.24823	0.112	B	0.20184	0.028	T	0.48007	-0.9072	10	0.08599	T	0.76	.	5.4833	0.16735	0.0:0.2944:0.2543:0.4513	.	5055	Q8IVF2	AHNK2_HUMAN	A	53;5055	ENSP00000450998:G53A;ENSP00000353114:G5055A	ENSP00000353114:G5055A	G	-	2	0	AHNAK2	104477669	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.626000	0.05527	-1.784000	0.01272	-0.258000	0.10820	GGG		0.547	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		6	180	0	0	0	1	0	6	180					G	105406624	C	G	105406624	3	3	34	1	0	0	0	0	1	0	0	0	415	623	22	5	2227	5	AHNAK2	14	105406624	Missense_Mutation	SNP	C	TCGA-CH-5768-01A-11D-1576-08	36150081	105406624	1942916	51	1715											
DET1	55070	broad.mit.edu	37	chr15	89074369	89074369	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aatgatatggagggaatagtCttctagaggggaccgtgggt	11	10	16	4	1	2	2	0	1	2	1	2	5	2	5	1	5	0	0	1	5	5	4			TCGA-CH-5768-01A-11D-1576-08	TCGA-CH-5768-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2aa9195-5cd4-4032-941e-90a1f724382c	5b3c1e73-475c-4b3b-a49a-0f11810c5223	g.chr15:89074369C>G	ENST00000268148.8	-	2	713	c.568G>C	c.(568-570)Gac>Cac	p.D190H	DET1_ENST00000558413.1_Intron|DET1_ENST00000564406.1_Missense_Mutation_p.D201H|DET1_ENST00000444300.1_Missense_Mutation_p.D201H|DET1_ENST00000559656.1_5'Flank	NM_001144074.1	NP_001137546.1	Q7L5Y6	DET1_HUMAN	de-etiolated homolog 1 (Arabidopsis)	190						nucleus (GO:0005634)		p.D201H(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(10)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	Lung NSC(78;0.105)|all_lung(78;0.182)		BRCA - Breast invasive adenocarcinoma(143;0.188)			AGGGAATAGTCTTCTAGAGGG	0.522																																						ENST00000564406.1																			1	Substitution - Missense(1)	p.D201H(1)	prostate(1)	endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(10)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						c.(601-603)Gac>Cac		de-etiolated homolog 1 (Arabidopsis)							57	57	57					15																	89074369		1950	4137	6087	SO:0001583	missense	55070					nucleus		g.chr15:89074369C>G	BC001242	CCDS45343.1, CCDS45344.1	15q25.3	2004-12-13				ENSG00000140543			25477	protein-coding gene	gene with protein product		608727				14739464	Standard	NM_001144074		Approved	FLJ10103	uc002bmq.2	Q7L5Y6		ENST00000268148.8:c.568G>C	15.37:g.89074369C>G	ENSP00000268148:p.Asp190His					DET1_ENST00000558413.1_Intron|DET1_ENST00000268148.8_Missense_Mutation_p.D190H|DET1_ENST00000444300.1_Missense_Mutation_p.D201H	p.D201H	NM_017996.3	NP_060466.2	Q7L5Y6	DET1_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.188)		3	761	-	Lung NSC(78;0.105)|all_lung(78;0.182)		190					B3KNN6|Q2VPC0|Q9NWD5	Missense_Mutation	SNP	ENST00000268148.8	37	c.601G>C	CCDS45344.1	.	.	.	.	.	.	.	.	.	.	C	17.25	3.340949	0.60963	.	.	ENSG00000140543	ENST00000444300;ENST00000268148	.	.	.	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	T	0.64046	0.2563	L	0.53780	1.695	0.80722	D	1	P;P	0.39326	0.668;0.668	B;B	0.40444	0.329;0.329	T	0.65405	-0.6176	9	0.56958	D	0.05	-36.5648	19.3813	0.94536	0.0:1.0:0.0:0.0	.	190;201	Q7L5Y6;B3KNN6	DET1_HUMAN;.	H	201;190	.	ENSP00000268148:D190H	D	-	1	0	DET1	86875373	1.000000	0.71417	0.998000	0.56505	0.987000	0.75469	7.213000	0.77950	2.824000	0.97209	0.655000	0.94253	GAC		0.522	DET1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415442.2	NM_017996		23	46	0	0	0	1	0	23	46					G	89074369	C	G	89074369	3	3	34	1	0	0	0	0	1	0	0	0	4450	913	32	5	1100	5	DET1	15	89074369	Missense_Mutation	SNP	C	TCGA-CH-5768-01A-11D-1576-08		89074369	13457023	52	1716											
PRSS22	64063	broad.mit.edu	37	chr16	2903247	2903247	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	accccgggcctgttgcgctcGgcacagccctcgccccagct	4	6	11	20	4	0	0	0	0	0	0	2	0	0	0	6	2	3	4	6	2	0	1			TCGA-CH-5768-01A-11D-1576-08	TCGA-CH-5768-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2aa9195-5cd4-4032-941e-90a1f724382c	5b3c1e73-475c-4b3b-a49a-0f11810c5223	g.chr16:2903247G>A	ENST00000161006.3	-	6	866	c.801C>T	c.(799-801)gcC>gcT	p.A267A	PRSS22_ENST00000571228.1_Silent_p.A157A|PRSS22_ENST00000574768.1_5'Flank	NM_022119.3	NP_071402.1	Q9GZN4	BSSP4_HUMAN	protease, serine, 22	267	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)	p.A267A(1)		central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(2)|skin(2)	10						TGTTGCGCTCGGCACAGCCCT	0.716																																						ENST00000161006.3																			1	Substitution - coding silent(1)	p.A267A(1)	prostate(1)	central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(2)|skin(2)	10						c.(799-801)gcC>gcT		protease, serine, 22							17	19	18					16																	2903247		2191	4284	6475	SO:0001819	synonymous_variant	64063				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr16:2903247G>A	AF321182	CCDS10481.1	16p13.3	2010-05-07			ENSG00000005001	ENSG00000005001		"Serine peptidases / Serine peptidases"	14368	protein-coding gene	gene with protein product	"brain-specific serine protease 4"	609343				11602603, 15701722	Standard	XM_005255473		Approved	hBSSP-4, BSSP-4, SP001LA	uc002cry.1	Q9GZN4	OTTHUMG00000128961	ENST00000161006.3:c.801C>T	16.37:g.2903247G>A						PRSS22_ENST00000571228.1_Silent_p.A157A	p.A267A	NM_022119.3	NP_071402.1	Q9GZN4	BSSP4_HUMAN			6	866	-			267			Peptidase S1.		O43342|Q6UXE0	Silent	SNP	ENST00000161006.3	37	c.801C>T	CCDS10481.1																																																																																				0.716	PRSS22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250943.1	NM_022119		4	30	0	0	0	1	0	4	30					A	2903247	G	A	2903247	2	1	34	1	0	0	0	0	0	0	0	1	12619	1103	39	2		2	PRSS22	16	2903247	Silent	SNP	G	TCGA-CH-5768-01A-11D-1576-08		2903247	87451506	53	1717											
A2BP1	54715	broad.mit.edu	37	chr16	7645571	7645571	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggatttggtttcgtaactttCgaaaatagtgccgatgcgga	10	13	12	6	4	0	0	0	0	0	0	2	4	0	2	1	3	3	2	1	3	4	5			TCGA-CH-5768-01A-11D-1576-08	TCGA-CH-5768-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2aa9195-5cd4-4032-941e-90a1f724382c	5b3c1e73-475c-4b3b-a49a-0f11810c5223	g.chr16:7645571C>T	ENST00000550418.1	+	8	1477	c.489C>T	c.(487-489)ttC>ttT	p.F163F	RBFOX1_ENST00000422070.4_Silent_p.F206F|RBFOX1_ENST00000355637.4_Silent_p.F183F|RBFOX1_ENST00000535565.2_Intron|RBFOX1_ENST00000552089.1_Silent_p.F180F|RBFOX1_ENST00000547372.1_Silent_p.F206F|RBFOX1_ENST00000436368.2_Silent_p.F183F|RBFOX1_ENST00000340209.4_Silent_p.F168F|RBFOX1_ENST00000311745.5_Silent_p.F183F|RBFOX1_ENST00000547338.1_Silent_p.F163F|RBFOX1_ENST00000553186.1_Silent_p.F163F	NM_018723.3	NP_061193.2	Q9NWB1	RFOX1_HUMAN	RNA binding protein, fox-1 homolog (C. elegans) 1	163	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA processing (GO:0006397)|neuromuscular process controlling balance (GO:0050885)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)|RNA transport (GO:0050658)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	nucleotide binding (GO:0000166)|protein C-terminus binding (GO:0008022)|RNA binding (GO:0003723)	p.F183F(2)		breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|lung(17)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)	55						TCGTAACTTTCGAAAATAGTG	0.453																																					Ovarian(157;934 2567 15163 39509)	ENST00000340209.4																			2	Substitution - coding silent(2)	p.F183F(2)	prostate(2)	breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|lung(17)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)	55						c.(502-504)ttC>ttT		RNA binding protein, fox-1 homolog (C. elegans) 1							169	149	156					16																	7645571		2197	4300	6497	SO:0001819	synonymous_variant	54715				mRNA processing|RNA splicing|RNA transport	nucleus|trans-Golgi network	nucleotide binding|protein C-terminus binding|RNA binding	g.chr16:7645571C>T	AF107203	CCDS10531.1, CCDS10532.1, CCDS45405.1, CCDS55983.1, CCDS55984.1	16p13.3	2013-02-12			ENSG00000078328	ENSG00000078328		"RNA binding motif (RRM) containing"	18222	protein-coding gene	gene with protein product	"ataxin 2-binding protein 1", "hexaribonucleotide binding protein 1"	605104				10814712, 16260614	Standard	NM_018723		Approved	A2BP1, FOX-1, HRNBP1	uc002cyy.2	Q9NWB1	OTTHUMG00000129551	ENST00000550418.1:c.489C>T	16.37:g.7645571C>T						RBFOX1_ENST00000311745.5_Silent_p.F183F|RBFOX1_ENST00000550418.1_Silent_p.F163F|RBFOX1_ENST00000547372.1_Silent_p.F206F|RBFOX1_ENST00000535565.2_Intron|RBFOX1_ENST00000355637.4_Silent_p.F183F|RBFOX1_ENST00000436368.2_Silent_p.F183F|RBFOX1_ENST00000552089.1_Silent_p.F180F|RBFOX1_ENST00000547338.1_Silent_p.F163F|RBFOX1_ENST00000553186.1_Silent_p.F163F|RBFOX1_ENST00000422070.4_Silent_p.F206F	p.F168F			Q9NWB1	RFOX1_HUMAN			5	801	+			163			RRM.		Q7Z7I7|Q8TAE3|Q8TAF2|Q8WYB2|Q9NS20	Silent	SNP	ENST00000550418.1	37	c.504C>T	CCDS55983.1																																																																																				0.453	RBFOX1-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000409492.2	NM_145891		89	126	0	0	0	1	0	89	126					T	7645571	C	T	7645571	2	4	34	1	0	0	0	0	0	0	0	1	3	883	31	2		2	A2BP1	16	7645571	Silent	SNP	C	TCGA-CH-5768-01A-11D-1576-08	4742324	7645571	82709182	54	1718											
GRIN2A	2903	broad.mit.edu	37	chr16	9858281	9858281	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttagggagtgggtcctattCtctgctgttgcctcatccct	4	16	10	11	0	2	0	1	0	1	0	5	1	4	1	3	2	2	2	3	2	2	5			TCGA-CH-5768-01A-11D-1576-08	TCGA-CH-5768-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2aa9195-5cd4-4032-941e-90a1f724382c	5b3c1e73-475c-4b3b-a49a-0f11810c5223	g.chr16:9858281C>A	ENST00000396573.2	-	14	3429	c.3120G>T	c.(3118-3120)gaG>gaT	p.E1040D	GRIN2A_ENST00000535259.1_Missense_Mutation_p.E883D|GRIN2A_ENST00000404927.2_Missense_Mutation_p.E1040D|GRIN2A_ENST00000396575.2_Missense_Mutation_p.E1040D|GRIN2A_ENST00000562109.1_Missense_Mutation_p.E1040D|GRIN2A_ENST00000330684.3_Missense_Mutation_p.E1040D	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	1040					directional locomotion (GO:0033058)|dopamine metabolic process (GO:0042417)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning or memory (GO:0007611)|memory (GO:0007613)|negative regulation of protein catabolic process (GO:0042177)|neurogenesis (GO:0022008)|positive regulation of apoptotic process (GO:0043065)|protein localization (GO:0008104)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic plasticity (GO:0048167)|response to amphetamine (GO:0001975)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to wounding (GO:0009611)|sensory perception of pain (GO:0019233)|serotonin metabolic process (GO:0042428)|sleep (GO:0030431)|startle response (GO:0001964)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)|visual learning (GO:0008542)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)	p.E1040D(1)		NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Glycine(DB00145)|Halothane(DB01159)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	GGGTCCTATTCTCTGCTGTTG	0.532																																						ENST00000396573.2																			1	Substitution - Missense(1)	p.E1040D(1)	prostate(1)	NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198						c.(3118-3120)gaG>gaT		glutamate receptor, ionotropic, N-methyl D-aspartate 2A	Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)						134	141	139					16																	9858281		2197	4300	6497	SO:0001583	missense	0				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	g.chr16:9858281C>A		CCDS10539.1, CCDS45407.1	16p13.2	2012-08-29			ENSG00000183454	ENSG00000183454		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4585	protein-coding gene	gene with protein product		138253		NMDAR2A		9480759	Standard	XM_005255267		Approved	GluN2A	uc002czo.4	Q12879	OTTHUMG00000129721	ENST00000396573.2:c.3120G>T	16.37:g.9858281C>A	ENSP00000379818:p.Glu1040Asp					GRIN2A_ENST00000404927.2_Missense_Mutation_p.E1040D|GRIN2A_ENST00000562109.1_Missense_Mutation_p.E1040D|GRIN2A_ENST00000330684.3_Missense_Mutation_p.E1040D|GRIN2A_ENST00000396575.2_Missense_Mutation_p.E1040D|GRIN2A_ENST00000535259.1_Missense_Mutation_p.E883D	p.E1040D	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN			14	3429	-			1040					O00669|Q17RZ6	Missense_Mutation	SNP	ENST00000396573.2	37	c.3120G>T	CCDS10539.1	.	.	.	.	.	.	.	.	.	.	C	5.938	0.357052	0.11239	.	.	ENSG00000183454	ENST00000396573;ENST00000404927;ENST00000535259;ENST00000330684;ENST00000396575	T;T;T;T;T	0.11495	2.79;2.77;2.77;2.79;2.79	5.33	4.38	0.52667	Glutamate [NMDA] receptor, epsilon subunit, C-terminal (1);	0.283100	0.41605	D	0.000853	T	0.13543	0.0328	L	0.51422	1.61	0.34101	D	0.6619	P;P;B	0.45986	0.652;0.87;0.224	B;P;B	0.45856	0.245;0.495;0.171	T	0.19976	-1.0289	9	.	.	.	.	9.7956	0.40733	0.0:0.8264:0.0:0.1736	.	883;1040;1040	F5GZ52;Q17RZ6;Q12879	.;.;NMDE1_HUMAN	D	1040;1040;883;1040;1040	ENSP00000379818:E1040D;ENSP00000385872:E1040D;ENSP00000441572:E883D;ENSP00000332549:E1040D;ENSP00000379820:E1040D	.	E	-	3	2	GRIN2A	9765782	1.000000	0.71417	0.998000	0.56505	0.637000	0.38172	1.551000	0.36233	1.262000	0.44165	-0.119000	0.15052	GAG		0.532	GRIN2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251930.3			100	232	1	0	1.10825e-40	1	1.26865e-40	100	232					A	9858281	C	A	9858281	3	1	34	1	0	0	0	0	1	0	0	0	6779	912	32	5	1278	5	GRIN2A	16	9858281	Missense_Mutation	SNP	C	TCGA-CH-5768-01A-11D-1576-08	2212710	9858281	80496472	55	1719											
DNAH3	55567	broad.mit.edu	37	chr16	21033374	21033374	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aacaaatttacaatgaaggcGaccaaattccaggcagggct	16	7	9	9	1	0	1	0	1	0	0	1	2	1	1	2	3	2	2	2	3	6	3	rs146618931		TCGA-CH-5768-01A-11D-1576-08	TCGA-CH-5768-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2aa9195-5cd4-4032-941e-90a1f724382c	5b3c1e73-475c-4b3b-a49a-0f11810c5223	g.chr16:21033374G>A	ENST00000261383.3	-	40	5694	c.5695C>T	c.(5695-5697)Cgc>Tgc	p.R1899C	DNAH3_ENST00000415178.1_Intron	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	1899	AAA 2. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)	p.R1899C(2)		NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		CAATGAAGGCGACCAAATTCC	0.458													G|||	1	0.000199681	0	0	5008	,	,		18769	0		0.001	False		,,,				2504	0					ENST00000261383.3																			2	Substitution - Missense(2)	p.R1899C(2)	prostate(2)	NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202						c.(5695-5697)Cgc>Tgc		dynein, axonemal, heavy chain 3							119	96	104					16																	21033374		2201	4300	6501	SO:0001583	missense	55567				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr16:21033374G>A	U83574	CCDS10594.1	16p12.2	2008-08-01	2006-09-04		ENSG00000158486	ENSG00000158486		"Axonemal dyneins"	2949	protein-coding gene	gene with protein product		603334	"dynein, axonemal, heavy polypeptide 3"			9256245, 9373155	Standard	NM_017539		Approved	Dnahc3b, DLP3, Hsadhc3, DKFZp434N074	uc010vbe.2	Q8TD57	OTTHUMG00000090677	ENST00000261383.3:c.5695C>T	16.37:g.21033374G>A	ENSP00000261383:p.Arg1899Cys					DNAH3_ENST00000415178.1_Intron	p.R1899C	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN		GBM - Glioblastoma multiforme(48;0.207)	40	5694	-			1899			AAA 2 (By similarity).		O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Missense_Mutation	SNP	ENST00000261383.3	37	c.5695C>T	CCDS10594.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	13.78	2.338637	0.41398	.	.	ENSG00000158486	ENST00000261383	T	0.28454	1.61	4.92	4.92	0.64577	.	0.415829	0.25094	N	0.033196	T	0.50086	0.1595	H	0.96365	3.81	0.53688	D	0.999977	B	0.21821	0.061	B	0.12156	0.007	T	0.61574	-0.7035	10	0.87932	D	0	.	15.2551	0.73579	0.0:0.1407:0.8593:0.0	.	1899	Q8TD57	DYH3_HUMAN	C	1899	ENSP00000261383:R1899C	ENSP00000261383:R1899C	R	-	1	0	DNAH3	20940875	0.996000	0.38824	0.184000	0.23157	0.985000	0.73830	3.790000	0.55461	2.265000	0.75225	0.462000	0.41574	CGC		0.458	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207361.1	NM_017539		20	36	0	0	0	1	0	20	36					A	21033374	G	A	21033374	3	1	34	1	0	0	0	0	1	0	0	0	4603	1058	37	2	6746	2	DNAH3	16	21033374	Missense_Mutation	SNP	G	TCGA-CH-5768-01A-11D-1576-08	11175093	21033374	69321379	56	1720											
ZNF276	92822	broad.mit.edu	37	chr16	89804607	89804607	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	caccacctgggccaccgagcCcctctgtgaccacagagggc	8	4	11	18	1	1	2	0	1	1	1	1	3	1	2	7	2	1	0	7	2	0	0			TCGA-CH-5768-01A-11D-1576-08	TCGA-CH-5768-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2aa9195-5cd4-4032-941e-90a1f724382c	5b3c1e73-475c-4b3b-a49a-0f11810c5223	g.chr16:89804607C>T	ENST00000443381.2	+	11	1895	c.1798C>T	c.(1798-1800)Ccc>Tcc	p.P600S	ZNF276_ENST00000289816.5_Missense_Mutation_p.P525S|ZNF276_ENST00000568064.1_3'UTR|ZNF276_ENST00000446326.2_Missense_Mutation_p.P386S|FANCA_ENST00000389301.3_3'UTR	NM_001113525.1	NP_001106997.1	Q8N554	ZN276_HUMAN	zinc finger protein 276	600					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.P525S(1)		cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)	14		Lung NSC(15;2.19e-05)|all_lung(18;3.07e-05)|all_hematologic(23;0.0256)		BRCA - Breast invasive adenocarcinoma(80;0.0278)		GCCACCGAGCCCCTCTGTGAC	0.647																																						ENST00000289816.5																			1	Substitution - Missense(1)	p.P525S(1)	prostate(1)	cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)	14						c.(1573-1575)Ccc>Tcc		zinc finger protein 276							21	18	19					16																	89804607		2195	4296	6491	SO:0001583	missense	92822				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:89804607C>T	AK026482	CCDS10986.1, CCDS45554.1	16q24.3	2014-02-17	2006-02-10	2006-02-10	ENSG00000158805	ENSG00000158805		"Zinc fingers, C2H2-type"	23330	protein-coding gene	gene with protein product	"centromere protein Z", "zinc finger, AD-type"	608460	"zinc finger protein 276 homolog (mouse)"	ZFP276		10936049, 20813266	Standard	NM_152287		Approved	MGC45417, ZNF477, CENPZ, CENP-Z, ZADT	uc002fos.4	Q8N554	OTTHUMG00000138050	ENST00000443381.2:c.1798C>T	16.37:g.89804607C>T	ENSP00000415836:p.Pro600Ser					ZNF276_ENST00000446326.2_Missense_Mutation_p.P386S|ZNF276_ENST00000443381.2_Missense_Mutation_p.P600S|ZNF276_ENST00000568064.1_3'UTR|FANCA_ENST00000389301.3_3'UTR	p.P525S	NM_152287.3	NP_689500.2	Q8N554	ZN276_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0278)	11	1885	+		Lung NSC(15;2.19e-05)|all_lung(18;3.07e-05)|all_hematologic(23;0.0256)	600					Q0VGA1|Q2TBE8|Q3B7H7	Missense_Mutation	SNP	ENST00000443381.2	37	c.1573C>T	CCDS45554.1	.	.	.	.	.	.	.	.	.	.	C	11.97	1.798946	0.31777	.	.	ENSG00000158805	ENST00000446326;ENST00000289816;ENST00000443381	T;T;T	0.06142	3.34;3.35;3.4	4.03	0.877	0.19145	.	0.423705	0.25411	N	0.030878	T	0.02807	0.0084	N	0.24115	0.695	0.09310	N	0.999998	B;B;B	0.26935	0.001;0.164;0.004	B;B;B	0.19946	0.001;0.027;0.001	T	0.42816	-0.9429	10	0.10111	T	0.7	-5.4001	1.6383	0.02747	0.1524:0.3617:0.2981:0.1878	.	438;600;386	B4DIT3;Q8N554;A8K186	.;ZN276_HUMAN;.	S	386;525;600	ENSP00000415999:P386S;ENSP00000289816:P525S;ENSP00000415836:P600S	ENSP00000289816:P525S	P	+	1	0	ZNF276	88332108	0.000000	0.05858	0.000000	0.03702	0.062000	0.15995	-0.315000	0.08081	-0.095000	0.12351	0.561000	0.74099	CCC		0.647	ZNF276-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422517.1	NM_152287		3	8	0	0	0	1	0	3	8					T	89804607	C	T	89804607	3	4	34	1	0	0	0	0	1	0	0	0	17808	623	22	3	1840	3	ZNF276	16	89804607	Missense_Mutation	SNP	C	TCGA-CH-5768-01A-11D-1576-08	68771233	89804607	550146	57	1721											
NCOR1	9611	broad.mit.edu	37	chr17	15976858	15976858	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgagctgttcttggactcctAgtcccttctcgggcattctt	4	16	9	12	1	3	1	0	1	3	0	6	2	5	2	2	2	1	3	2	2	1	6			TCGA-CH-5768-01A-11D-1576-08	TCGA-CH-5768-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2aa9195-5cd4-4032-941e-90a1f724382c	5b3c1e73-475c-4b3b-a49a-0f11810c5223	g.chr17:15976858A>C	ENST00000268712.3	-	28	3953	c.3696T>G	c.(3694-3696)acT>acG	p.T1232T	NCOR1_ENST00000395851.1_Silent_p.T1248T|NCOR1_ENST00000395857.3_Intron	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN	nuclear receptor corepressor 1	1232	Interaction with ETO.				CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation (GO:0002361)|cellular lipid metabolic process (GO:0044255)|cholesterol homeostasis (GO:0042632)|chromatin modification (GO:0016568)|circadian regulation of gene expression (GO:0032922)|definitive erythrocyte differentiation (GO:0060318)|gene expression (GO:0010467)|negative regulation of JNK cascade (GO:0046329)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of histone deacetylation (GO:0031065)|regulation of fatty acid transport (GO:2000191)|regulation of glycolytic process by negative regulation of transcription from RNA polymerase II promoter (GO:0072362)|regulation of lipid transport by negative regulation of transcription from RNA polymerase II promoter (GO:0072368)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|spindle assembly (GO:0051225)|thalamus development (GO:0021794)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|histone deacetylase binding (GO:0042826)|histone deacetylase regulator activity (GO:0035033)|nuclear hormone receptor binding (GO:0035257)|RNA polymerase II activating transcription factor binding (GO:0001102)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)	p.T1232T(1)		NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		TTGGACTCCTAGTCCCTTCTC	0.393																																						ENST00000268712.3																			1	Substitution - coding silent(1)	p.T1232T(1)	prostate(1)	NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107						c.(3694-3696)acT>acG		nuclear receptor corepressor 1							117	102	107					17																	15976858		2203	4300	6503	SO:0001819	synonymous_variant	9611				cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter	nuclear chromatin|spindle microtubule|transcriptional repressor complex	histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding	g.chr17:15976858A>C	AF044209	CCDS11175.1, CCDS54094.1, CCDS54095.1	17p11.2	2014-06-12	2010-06-10		ENSG00000141027	ENSG00000141027			7672	protein-coding gene	gene with protein product	"thyroid hormone- and retinoic acid receptor-associated corepressor 1", "protein phosphatase 1, regulatory subunit 109"	600849	"nuclear receptor co-repressor 1"			7566114, 9724795	Standard	NM_006311		Approved	N-CoR, hCIT529I10, TRAC1, hN-CoR, KIAA1047, MGC104216, PPP1R109	uc002gpo.3	O75376	OTTHUMG00000059309	ENST00000268712.3:c.3696T>G	17.37:g.15976858A>C						NCOR1_ENST00000395851.1_Silent_p.T1248T|NCOR1_ENST00000395857.3_Intron	p.T1232T	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.101)	28	3953	-			1232			Interaction with ETO.		B3DLF8|E9PGV6|Q86YY0|Q9UPV5|Q9UQ18	Silent	SNP	ENST00000268712.3	37	c.3696T>G	CCDS11175.1																																																																																				0.393	NCOR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131751.5	NM_006311		10	131	0	0	0	1	0	10	131					C	15976858	A	C	15976858	2	2	34	1	0	0	0	0	0	0	0	1	10235	407	15	5		5	NCOR1	17	15976858	Silent	SNP	A	TCGA-CH-5768-01A-11D-1576-08		15976858	65218352	58	1722											
MYO15A	51168	broad.mit.edu	37	chr17	18052094	18052094	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggggctggcagatggctggCgcggctggaccgtggccatg	4	6	21	10	3	0	1	0	0	0	1	0	2	0	2	2	8	0	4	2	8	0	0			TCGA-CH-5768-01A-11D-1576-08	TCGA-CH-5768-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2aa9195-5cd4-4032-941e-90a1f724382c	5b3c1e73-475c-4b3b-a49a-0f11810c5223	g.chr17:18052094C>T	ENST00000205890.5	+	33	7122	c.6784C>T	c.(6784-6786)Cgc>Tgc	p.R2262C	snoU13_ENST00000459354.1_RNA	NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	2262	Tail.				inner ear morphogenesis (GO:0042472)|locomotory behavior (GO:0007626)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|stereocilium (GO:0032420)	ATP binding (GO:0005524)|motor activity (GO:0003774)	p.R2262C(1)		breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					AGATGGCTGGCGCGGCTGGAC	0.602																																						ENST00000205890.5																			1	Substitution - Missense(1)	p.R2262C(1)	prostate(1)	breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99						c.(6784-6786)Cgc>Tgc		myosin XVA							15	18	17					17																	18052094		2052	4194	6246	SO:0001583	missense	51168				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity	g.chr17:18052094C>T	AF144094	CCDS42271.1	17p11.2	2011-09-27			ENSG00000091536	ENSG00000091536		"Myosins / Myosin superfamily : Class XV"	7594	protein-coding gene	gene with protein product		602666		DFNB3, MYO15		9603736	Standard	NM_016239		Approved		uc021trl.1	Q9UKN7	OTTHUMG00000059390	ENST00000205890.5:c.6784C>T	17.37:g.18052094C>T	ENSP00000205890:p.Arg2262Cys						p.R2262C	NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN			33	7122	+	all_neural(463;0.228)		2262			Tail.		B4DFC7	Missense_Mutation	SNP	ENST00000205890.5	37	c.6784C>T	CCDS42271.1	.	.	.	.	.	.	.	.	.	.	c	13.08	2.130261	0.37630	.	.	ENSG00000091536	ENST00000205890	D	0.88818	-2.43	4.26	0.673	0.17941	.	.	.	.	.	D	0.93677	0.7980	M	0.82323	2.585	0.80722	D	1	D	0.89917	1.0	D	0.70935	0.971	D	0.93662	0.6982	9	0.87932	D	0	.	13.6799	0.62476	0.6571:0.3429:0.0:0.0	.	2262	Q9UKN7	MYO15_HUMAN	C	2262	ENSP00000205890:R2262C	ENSP00000205890:R2262C	R	+	1	0	MYO15A	17992819	1.000000	0.71417	0.995000	0.50966	0.614000	0.37383	1.542000	0.36137	0.368000	0.24481	0.450000	0.29827	CGC		0.602	MYO15A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132048.1	NM_016239		4	3	0	0	0	1	0	4	3					T	18052094	C	T	18052094	3	4	34	1	0	0	0	0	1	0	0	0	10063	768	27	1	6906	1	MYO15A	17	18052094	Missense_Mutation	SNP	C	TCGA-CH-5768-01A-11D-1576-08	2075236	18052094	63143116	59	1723											
KRT25	147183	broad.mit.edu	37	chr17	38906791	38906791	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgatctgagcctggatctgcGccagctgcgcacagtagttg	7	9	13	12	3	2	1	0	1	2	0	2	3	2	2	2	1	4	4	2	1	1	2			TCGA-CH-5768-01A-11D-1576-08	TCGA-CH-5768-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2aa9195-5cd4-4032-941e-90a1f724382c	5b3c1e73-475c-4b3b-a49a-0f11810c5223	g.chr17:38906791G>A	ENST00000312150.4	-	6	1076	c.1016C>T	c.(1015-1017)gCg>gTg	p.A339V		NM_181534.3	NP_853512.1			keratin 25									p.A339V(1)		endometrium(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(4)	16		Breast(137;0.00526)				CTGGATCTGCGCCAGCTGCGC	0.562																																						ENST00000312150.4																			1	Substitution - Missense(1)	p.A339V(1)	prostate(1)	endometrium(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(4)	16						c.(1015-1017)gCg>gTg		keratin 25							138	140	139					17																	38906791		2203	4300	6503	SO:0001583	missense	147183					cytoplasm|intermediate filament	structural molecule activity	g.chr17:38906791G>A	AK129503	CCDS11373.1	17q21.2	2013-01-16	2006-07-17	2006-07-17	ENSG00000204897	ENSG00000204897		"-", "Intermediate filaments type I, keratins (acidic)"	30839	protein-coding gene	gene with protein product			"keratin 25A"	KRT25A		16831889	Standard	NM_181534		Approved		uc002hve.3	Q7Z3Z0	OTTHUMG00000133373	ENST00000312150.4:c.1016C>T	17.37:g.38906791G>A	ENSP00000310573:p.Ala339Val						p.A339V	NM_181534.3	NP_853512.1	Q7Z3Z0	K1C25_HUMAN			6	1076	-		Breast(137;0.00526)	339			Coil 2.|Rod.			Missense_Mutation	SNP	ENST00000312150.4	37	c.1016C>T	CCDS11373.1	.	.	.	.	.	.	.	.	.	.	G	18.46	3.629144	0.67015	.	.	ENSG00000204897	ENST00000394042;ENST00000312150	D	0.88896	-2.44	5.52	5.52	0.82312	Filament (1);	0.213774	0.33040	N	0.005356	D	0.86012	0.5831	L	0.45352	1.415	0.09310	N	1	P	0.43542	0.81	B	0.40444	0.329	T	0.82354	-0.0499	10	0.72032	D	0.01	.	15.7677	0.78141	0.0:0.0:0.8633:0.1367	.	339	Q7Z3Z0	K1C25_HUMAN	V	268;339	ENSP00000310573:A339V	ENSP00000310573:A339V	A	-	2	0	KRT25	36160317	0.243000	0.23878	0.929000	0.37066	0.713000	0.41058	3.072000	0.50049	2.566000	0.86566	0.655000	0.94253	GCG		0.562	KRT25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257218.1	NM_181534		7	349	0	0	0	1	0	7	349					A	38906791	G	A	38906791	3	1	34	1	0	0	0	0	1	0	0	0	8462	1087	38	1	348	1	KRT25	17	38906791	Missense_Mutation	SNP	G	TCGA-CH-5768-01A-11D-1576-08	20854697	38906791	42288419	60	1724											
C18orf34	374864	broad.mit.edu	37	chr18	30517984	30517984	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tggttgtttgcttaaccatcGttttcgcatgtgccatctgt	5	18	9	9	2	1	0	0	0	1	0	3	0	1	0	2	1	3	5	2	1	1	5			TCGA-CH-5768-01A-11D-1576-08	TCGA-CH-5768-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2aa9195-5cd4-4032-941e-90a1f724382c	5b3c1e73-475c-4b3b-a49a-0f11810c5223	g.chr18:30517984G>A	ENST00000383096.3	-	23	2777	c.2595C>T	c.(2593-2595)aaC>aaT	p.N865N	CCDC178_ENST00000583930.1_Silent_p.N889N|CCDC178_ENST00000581852.1_Silent_p.N70N|CCDC178_ENST00000406524.2_Silent_p.N889N|CCDC178_ENST00000579916.1_Silent_p.N185N|CCDC178_ENST00000402325.1_Silent_p.N815N|CCDC178_ENST00000403303.1_Silent_p.N865N|RP11-746B8.1_ENST00000580366.1_RNA|CCDC178_ENST00000300227.8_Silent_p.N827N			Q5BJE1	CC178_HUMAN	coiled-coil domain containing 178	865								p.N865N(1)|p.N827N(1)									CTTAACCATCGTTTTCGCATG	0.368																																						ENST00000383096.3																			2	Substitution - coding silent(2)	p.N865N(1)|p.N827N(1)	prostate(2)								c.(2593-2595)aaC>aaT		coiled-coil domain containing 178							180	161	167					18																	30517984		2203	4300	6503	SO:0001819	synonymous_variant	374864							g.chr18:30517984G>A	AK126038	CCDS11906.1, CCDS42424.1	18q12.1	2012-10-15	2012-10-15	2012-10-15	ENSG00000166960	ENSG00000166960			29588	protein-coding gene	gene with protein product			"chromosome 18 open reading frame 34"	C18orf34			Standard	NM_198995		Approved	FLJ44050	uc002kxn.2	Q5BJE1	OTTHUMG00000132279	ENST00000383096.3:c.2595C>T	18.37:g.30517984G>A						CCDC178_ENST00000581852.1_Silent_p.N70N|CCDC178_ENST00000300227.8_Silent_p.N827N|RP11-746B8.1_ENST00000580366.1_RNA|CCDC178_ENST00000403303.1_Silent_p.N865N|CCDC178_ENST00000402325.1_Silent_p.N815N|CCDC178_ENST00000579916.1_Silent_p.N185N|CCDC178_ENST00000406524.2_Silent_p.N889N|CCDC178_ENST00000583930.1_Silent_p.N889N	p.N865N							23	2777	-								A6NDC6|J3KS92|Q6ZP67|Q6ZU20	Silent	SNP	ENST00000383096.3	37	c.2595C>T	CCDS42424.1																																																																																				0.368	CCDC178-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255373.2	NM_198995		37	67	0	0	0	1	0	37	67					A	30517984	G	A	30517984	2	1	34	1	0	0	0	0	0	0	0	1	1902	1136	40	1		1	C18orf34	18	30517984	Silent	SNP	G	TCGA-CH-5768-01A-11D-1576-08		30517984	47559264	61	1725											
CACNA1A	773	broad.mit.edu	37	chr19	13410024	13410024	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtctggccgcaggtgccgcGtgtaggcagccttccagcgc	4	8	15	14	4	1	0	0	0	1	0	2	0	2	0	4	3	3	3	4	3	1	2			TCGA-CH-5768-01A-11D-1576-08	TCGA-CH-5768-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2aa9195-5cd4-4032-941e-90a1f724382c	5b3c1e73-475c-4b3b-a49a-0f11810c5223	g.chr19:13410024G>A	ENST00000360228.5	-	19	2422	c.2423C>T	c.(2422-2424)aCg>aTg	p.T808M	CACNA1A_ENST00000573710.2_Missense_Mutation_p.T809M	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	809					adult walking behavior (GO:0007628)|behavioral response to pain (GO:0048266)|calcium ion import (GO:0070509)|calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cell death (GO:0008219)|cell growth (GO:0016049)|cellular chloride ion homeostasis (GO:0030644)|cerebellar molecular layer development (GO:0021679)|cerebellar Purkinje cell differentiation (GO:0021702)|cerebellum maturation (GO:0021590)|dendrite morphogenesis (GO:0048813)|energy reserve metabolic process (GO:0006112)|gamma-aminobutyric acid secretion (GO:0014051)|gamma-aminobutyric acid signaling pathway (GO:0007214)|glucose metabolic process (GO:0006006)|hormone metabolic process (GO:0042445)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|musculoskeletal movement, spinal reflex action (GO:0050883)|negative regulation of hormone biosynthetic process (GO:0032353)|negative regulation of neuron apoptotic process (GO:0043524)|neuromuscular process controlling balance (GO:0050885)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter metabolic process (GO:0042133)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|receptor clustering (GO:0043113)|regulation of acetylcholine secretion, neurotransmission (GO:0014056)|regulation of axonogenesis (GO:0050770)|regulation of calcium ion-dependent exocytosis (GO:0017158)|regulation of insulin secretion (GO:0050796)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|spinal cord motor neuron differentiation (GO:0021522)|sulfur amino acid metabolic process (GO:0000096)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transmission of nerve impulse (GO:0019226)|vestibular nucleus development (GO:0021750)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|syntaxin binding (GO:0019905)|voltage-gated calcium channel activity (GO:0005245)	p.T809M(3)|p.T808M(1)		breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Loperamide(DB00836)|Pregabalin(DB00230)|Spironolactone(DB00421)|Verapamil(DB00661)	CAGGTGCCGCGTGTAGGCAGC	0.642																																						ENST00000360228.5																			4	Substitution - Missense(4)	p.T809M(3)|p.T808M(1)	prostate(4)	breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42						c.(2422-2424)aCg>aTg		calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)						47	54	52					19																	13410024		2037	4162	6199	SO:0001583	missense	773				cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding	g.chr19:13410024G>A	U79666	CCDS45998.1, CCDS45999.1	19p13	2014-09-17			ENSG00000141837	ENSG00000141837		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1388	protein-coding gene	gene with protein product		601011		CACNL1A4, SCA6, MHP1, MHP		8825650, 16382099, 23827678	Standard	NM_000068		Approved	Cav2.1, EA2, APCA, HPCA, FHM	uc010xne.2	O00555	OTTHUMG00000044590	ENST00000360228.5:c.2423C>T	19.37:g.13410024G>A	ENSP00000353362:p.Thr808Met					CACNA1A_ENST00000573710.2_Missense_Mutation_p.T809M	p.T808M	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		19	2422	-			809					J3KP41|P78510|P78511|Q16290|Q92690|Q99790|Q99791|Q99792|Q99793|Q9NS88|Q9UDC4	Missense_Mutation	SNP	ENST00000360228.5	37	c.2423C>T	CCDS45998.1	.	.	.	.	.	.	.	.	.	.	G	1.662	-0.511323	0.04231	.	.	ENSG00000141837	ENST00000360228;ENST00000418012;ENST00000357018;ENST00000325084	D	0.95918	-3.85	3.99	1.56	0.23342	.	1.904990	0.03030	N	0.151895	D	0.91157	0.7215	N	0.24115	0.695	0.09310	N	1	P;P;P	0.46064	0.474;0.872;0.798	B;B;B	0.37480	0.058;0.251;0.128	D	0.84855	0.0816	10	0.72032	D	0.01	.	10.4736	0.44652	0.0:0.5243:0.4756:0.0	.	809;812;808	O00555;E9PD31;Q9NS88	CAC1A_HUMAN;.;.	M	808;812;809;809	ENSP00000353362:T808M	ENSP00000317661:T809M	T	-	2	0	CACNA1A	13271024	0.167000	0.22975	0.052000	0.19188	0.010000	0.07245	1.666000	0.37460	0.847000	0.35167	0.555000	0.69702	ACG		0.642	CACNA1A-001	KNOWN	non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000104062.2	NM_000068		3	48	0	0	0	1	0	3	48					A	13410024	G	A	13410024	3	1	34	1	0	0	0	0	1	0	0	0	2538	1145	40	1	5315	1	CACNA1A	19	13410024	Missense_Mutation	SNP	G	TCGA-CH-5768-01A-11D-1576-08		13410024	45718959	62	1726											
TSHZ3	57616	broad.mit.edu	37	chr19	31769517	31769517	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agctcctgcagggtgtcatgCgagctcccacactccatgca	8	8	10	15	1	1	0	1	0	0	0	4	1	4	0	3	1	5	4	3	1	0	0	rs369438297		TCGA-CH-5768-01A-11D-1576-08	TCGA-CH-5768-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2aa9195-5cd4-4032-941e-90a1f724382c	5b3c1e73-475c-4b3b-a49a-0f11810c5223	g.chr19:31769517C>T	ENST00000240587.4	-	2	1509	c.1182G>A	c.(1180-1182)tcG>tcA	p.S394S		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	394					in utero embryonic development (GO:0001701)|kidney morphogenesis (GO:0060993)|kidney smooth muscle cell differentiation (GO:0072195)|lung development (GO:0030324)|metanephros development (GO:0001656)|musculoskeletal movement (GO:0050881)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of smooth muscle cell differentiation (GO:0051152)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|sensory perception of touch (GO:0050975)|transcription, DNA-templated (GO:0006351)|ureter smooth muscle cell differentiation (GO:0072193)|ureteric bud development (GO:0001657)|ureteric peristalsis (GO:0072105)	growth cone (GO:0030426)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.S211S(1)|p.S394S(1)		breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					GGGTGTCATGCGAGCTCCCAC	0.557																																						ENST00000240587.4																			2	Substitution - coding silent(2)	p.S211S(1)|p.S394S(1)	prostate(2)	breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123						c.(1180-1182)tcG>tcA		teashirt zinc finger homeobox 3		C		0,4406		0,0,2203	163	152	156		1182	-8	0.1	19		156	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	TSHZ3	NM_020856.2		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		394/1082	31769517	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	57616				negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:31769517C>T	AL136805	CCDS12421.2	19q13.11	2013-11-20	2007-07-16	2006-03-14	ENSG00000121297	ENSG00000121297		"Teashirt zinc fingers", "Homeoboxes / ZF class", "Zinc fingers, C2H2-type"	30700	protein-coding gene	gene with protein product	"teashirt 3"	614119	"zinc finger protein 537", "teashirt family zinc finger 3"	ZNF537			Standard	NM_020856		Approved	KIAA1474, TSH3	uc002nsy.4	Q63HK5	OTTHUMG00000150184	ENST00000240587.4:c.1182G>A	19.37:g.31769517C>T							p.S394S	NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN			2	1509	-	Esophageal squamous(110;0.226)		394					Q9H0G6|Q9P254	Silent	SNP	ENST00000240587.4	37	c.1182G>A	CCDS12421.2																																																																																				0.557	TSHZ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316743.2	NM_020856		7	222	0	0	0	1	0	7	222					T	31769517	C	T	31769517	2	4	34	1	0	0	0	0	0	0	0	1	16622	755	27	1		1	TSHZ3	19	31769517	Silent	SNP	C	TCGA-CH-5768-01A-11D-1576-08	18359493	31769517	27359466	63	1727											
RABAC1	10567	broad.mit.edu	37	chr19	42463023	42463023	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gctggtccacgaaggtgctcCagggccggatggtcgcgcgg	5	6	18	12	5	0	0	0	0	0	0	3	2	2	1	3	6	1	2	3	6	1	0			TCGA-CH-5768-01A-11D-1576-08	TCGA-CH-5768-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2aa9195-5cd4-4032-941e-90a1f724382c	5b3c1e73-475c-4b3b-a49a-0f11810c5223	g.chr19:42463023C>A	ENST00000222008.6	-	2	231	c.134G>T	c.(133-135)tGg>tTg	p.W45L	RABAC1_ENST00000601891.1_Missense_Mutation_p.W45L|RABAC1_ENST00000601078.1_5'UTR	NM_006423.2	NP_006414.2	Q9UI14	PRAF1_HUMAN	Rab acceptor 1 (prenylated)	45	Required for interaction with prenylated RAB3A and VAMP2. {ECO:0000250}.					cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|synapse (GO:0045202)	identical protein binding (GO:0042802)	p.W45L(1)		central_nervous_system(1)|kidney(1)|prostate(1)	3						GAAGGTGCTCCAGGGCCGGAT	0.692																																						ENST00000222008.6																			1	Substitution - Missense(1)	p.W45L(1)	prostate(1)	central_nervous_system(1)|kidney(1)|prostate(1)	3						c.(133-135)tGg>tTg		Rab acceptor 1 (prenylated)							39	34	36					19																	42463023		2199	4297	6496	SO:0001583	missense	10567					cell junction|Golgi apparatus|integral to membrane|synaptic vesicle	identical protein binding	g.chr19:42463023C>A	AJ133534	CCDS12593.1	19q13.2	2012-09-20			ENSG00000105404	ENSG00000105404			9794	protein-coding gene	gene with protein product	"PRA1 domain family 1", "prenylated Rab acceptor 1"	604925				10329441, 10751420	Standard	NM_006423		Approved	PRA1, PRAF1, YIP3	uc002osf.3	Q9UI14		ENST00000222008.6:c.134G>T	19.37:g.42463023C>A	ENSP00000222008:p.Trp45Leu					RABAC1_ENST00000601078.1_5'UTR|RABAC1_ENST00000601891.1_Missense_Mutation_p.W45L	p.W45L	NM_006423.2	NP_006414.2	Q9UI14	PRAF1_HUMAN			2	231	-			45			Required for interaction with prenylated RAB3A and VAMP2 (By similarity).		Q7Z4Y2|Q9Y3R1	Missense_Mutation	SNP	ENST00000222008.6	37	c.134G>T	CCDS12593.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.219164	0.79464	.	.	ENSG00000105404	ENST00000222008	T	0.46063	0.88	4.34	4.34	0.51931	.	0.000000	0.85682	D	0.000000	T	0.53578	0.1805	L	0.42529	1.33	0.80722	D	1	D	0.76494	0.999	D	0.70935	0.971	T	0.46062	-0.9218	10	0.30078	T	0.28	2.3525	14.7269	0.69351	0.0:1.0:0.0:0.0	.	45	Q9UI14	PRAF1_HUMAN	L	45	ENSP00000222008:W45L	ENSP00000222008:W45L	W	-	2	0	RABAC1	47154863	1.000000	0.71417	0.998000	0.56505	0.215000	0.24574	6.732000	0.74790	2.413000	0.81919	0.561000	0.74099	TGG		0.692	RABAC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463388.1	NM_006423		2	3	1	0	1	1	1	2	3					A	42463023	C	A	42463023	3	1	34	1	0	0	0	0	1	0	0	0	12960	595	21	5	439	5	RABAC1	19	42463023	Missense_Mutation	SNP	C	TCGA-CH-5768-01A-11D-1576-08	10693506	42463023	16665960	64	1728											
KLK3	354	broad.mit.edu	37	chr19	51361384	51361384	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttcccacacccgctctacgaTatgagcctcctgaagaatcg	10	9	7	15	3	1	3	0	2	1	1	4	4	3	3	4	0	2	1	4	0	4	3			TCGA-CH-5768-01A-11D-1576-08	TCGA-CH-5768-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2aa9195-5cd4-4032-941e-90a1f724382c	5b3c1e73-475c-4b3b-a49a-0f11810c5223	g.chr19:51361384T>G	ENST00000326003.2	+	3	347	c.306T>G	c.(304-306)gaT>gaG	p.D102E	KLK3_ENST00000597483.1_Intron|KLK3_ENST00000595952.1_Intron|KLK3_ENST00000360617.3_Missense_Mutation_p.D102E|KLK3_ENST00000593997.1_Missense_Mutation_p.D102E	NM_001030047.1|NM_001030048.1|NM_001648.2	NP_001025218.1|NP_001025219.1|NP_001639.1	P07288	KLK3_HUMAN	kallikrein-related peptidase 3	102	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				cellular protein metabolic process (GO:0044267)|negative regulation of angiogenesis (GO:0016525)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)	p.D102E(2)		breast(1)|cervix(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00763)|GBM - Glioblastoma multiforme(134;0.0144)		CGCTCTACGATATGAGCCTCC	0.577																																					Colon(185;1767 2023 13025 30120 37630)	ENST00000360617.3																			2	Substitution - Missense(2)	p.D102E(2)	prostate(2)	breast(1)|cervix(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						c.(304-306)gaT>gaG		kallikrein-related peptidase 3							95	77	83					19																	51361384		2203	4300	6503	SO:0001583	missense	354				negative regulation of angiogenesis|proteolysis	extracellular region	serine-type endopeptidase activity	g.chr19:51361384T>G	X14810	CCDS12807.1, CCDS33083.1, CCDS46155.1	19q13.41	2012-10-02	2006-10-27			ENSG00000142515		"Kallikreins"	6364	protein-coding gene	gene with protein product		176820	"kallikrein 3, (prostate specific antigen)"	APS		2456523, 2436946, 16800724, 16800723	Standard	NM_001648		Approved	PSA	uc021uyi.1	P07288		ENST00000326003.2:c.306T>G	19.37:g.51361384T>G	ENSP00000314151:p.Asp102Glu					KLK3_ENST00000593997.1_Missense_Mutation_p.D102E|KLK3_ENST00000595952.1_Intron|KLK3_ENST00000597483.1_Intron|KLK3_ENST00000326003.2_Missense_Mutation_p.D102E	p.D102E			P07288	KLK3_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00763)|GBM - Glioblastoma multiforme(134;0.0144)	3	306	+		all_neural(266;0.057)	102			Peptidase S1.		C9JXH3|G3V0H4|G3XAE3|Q15096|Q16272|Q86TG8|Q8IXI4	Missense_Mutation	SNP	ENST00000326003.2	37	c.306T>G	CCDS12807.1	.	.	.	.	.	.	.	.	.	.	T	9.742	1.165259	0.21538	.	.	ENSG00000142515	ENST00000326003;ENST00000360617;ENST00000326052	D;D	0.88586	-2.4;-2.4	2.31	-4.63	0.03359	.	0.367053	0.19735	N	0.107253	T	0.71651	0.3365	N	0.16066	0.365	0.09310	N	0.999999	B;B	0.09022	0.002;0.001	B;B	0.19946	0.027;0.003	T	0.58662	-0.7597	10	0.87932	D	0	.	1.041	0.01559	0.1684:0.4007:0.166:0.2649	.	102;102	Q8NCW4;G3XAE3	.;.	E	102	ENSP00000314151:D102E;ENSP00000353829:D102E	ENSP00000314151:D102E	D	+	3	2	KLK3	56053196	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.388000	0.07352	-0.764000	0.04651	-1.393000	0.01150	GAT		0.577	KLK3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464067.1	NM_145864		27	33	0	0	0	1	0	27	33					G	51361384	T	G	51361384	3	3	34	1	0	0	0	0	1	0	0	0	8405	1403	49	5	320	5	KLK3	19	51361384	Missense_Mutation	SNP	T	TCGA-CH-5768-01A-11D-1576-08	8898361	51361384	7767599	65	1729											
PTPRH	5794	broad.mit.edu	37	chr19	55707952	55707952	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcattccgtcccagatggtcGtgatggtggctgggtaggac	6	11	15	9	2	1	2	1	1	0	1	4	3	3	3	2	5	0	2	2	5	1	2	rs138080428		TCGA-CH-5768-01A-11D-1576-08	TCGA-CH-5768-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2aa9195-5cd4-4032-941e-90a1f724382c	5b3c1e73-475c-4b3b-a49a-0f11810c5223	g.chr19:55707952G>A	ENST00000376350.3	-	10	2217	c.2195C>T	c.(2194-2196)aCg>aTg	p.T732M	PTPRH_ENST00000588559.1_5'UTR|PTPRH_ENST00000263434.5_Missense_Mutation_p.T554M	NM_002842.3	NP_002833.3	Q9HD43	PTPRH_HUMAN	protein tyrosine phosphatase, receptor type, H	732	Fibronectin type-III 8. {ECO:0000255|PROSITE-ProRule:PRU00316}.				apoptotic process (GO:0006915)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.T732M(2)		breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(8)|lung(27)|ovary(2)|prostate(5)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	67		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0479)		CCAGATGGTCGTGATGGTGGC	0.632													G|||	1	0.000199681	0	0	5008	,	,		15476	0		0.001	False		,,,				2504	0					ENST00000376350.3																			2	Substitution - Missense(2)	p.T732M(2)	prostate(2)	breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(8)|lung(27)|ovary(2)|prostate(5)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	67						c.(2194-2196)aCg>aTg		protein tyrosine phosphatase, receptor type, H		G	MET/THR,MET/THR	0,4406		0,0,2203	68	59	62		1661,2195	-5.2	0	19	dbSNP_134	62	8,8592	6.4+/-24.3	0,8,4292	yes	missense,missense	PTPRH	NM_001161440.1,NM_002842.3	81,81	0,8,6495	AA,AG,GG		0.093,0.0,0.0615	possibly-damaging,possibly-damaging	554/938,732/1116	55707952	8,12998	2203	4300	6503	SO:0001583	missense	5794				apoptosis	cytoplasm|integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr19:55707952G>A		CCDS33110.1, CCDS54321.1	19q13.4	2013-02-11				ENSG00000080031		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Fibronectin type III domain containing"	9672	protein-coding gene	gene with protein product		602510				8294459	Standard	XM_006723312		Approved	SAP-1	uc002qjq.3	Q9HD43		ENST00000376350.3:c.2195C>T	19.37:g.55707952G>A	ENSP00000365528:p.Thr732Met					PTPRH_ENST00000588559.1_5'UTR|PTPRH_ENST00000263434.5_Missense_Mutation_p.T554M	p.T732M	NM_002842.3	NP_002833.3	Q9HD43	PTPRH_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0479)	10	2217	-		Renal(1328;0.245)	732			Fibronectin type-III 8.		C9JCH2|Q15426|Q2NKN9|Q2NKP0	Missense_Mutation	SNP	ENST00000376350.3	37	c.2195C>T	CCDS33110.1	2	9.157509157509158E-4	0	0.0	1	0.0027624309392265192	0	0.0	1	0.0013192612137203166	G	10.29	1.310415	0.23821	0.0	9.3E-4	ENSG00000080031	ENST00000376350;ENST00000263434	T;T	0.06933	3.24;4.23	5.16	-5.22	0.02806	Fibronectin, type III (1);	0.203937	0.24671	N	0.036546	T	0.01835	0.0058	N	0.14661	0.345	0.09310	N	1	P;P;P	0.46706	0.547;0.676;0.883	B;B;B	0.23574	0.021;0.047;0.047	T	0.50294	-0.8845	10	0.34782	T	0.22	.	0.3397	0.00331	0.2433:0.2653:0.243:0.2484	.	554;554;732	C9JCH2;Q9HD43-2;Q9HD43	.;.;PTPRH_HUMAN	M	732;554	ENSP00000365528:T732M;ENSP00000263434:T554M	ENSP00000263434:T554M	T	-	2	0	PTPRH	60399764	0.000000	0.05858	0.000000	0.03702	0.221000	0.24807	-0.415000	0.07106	-0.541000	0.06257	-0.143000	0.13931	ACG		0.632	PTPRH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452649.1			44	53	0	0	0	1	0	44	53					A	55707952	G	A	55707952	3	1	34	1	0	0	0	0	1	0	0	0	12803	1145	40	1	1196	1	PTPRH	19	55707952	Missense_Mutation	SNP	G	TCGA-CH-5768-01A-11D-1576-08	4346568	55707952	3421031	66	1730											
PCSK2	5126	broad.mit.edu	37	chr20	17462414	17462414	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtccattttgctgagccggcGtccaagggatgacgactcca	8	9	12	12	3	0	2	0	2	0	0	3	4	3	3	4	2	2	1	4	2	1	2			TCGA-CH-5768-01A-11D-1576-08	TCGA-CH-5768-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2aa9195-5cd4-4032-941e-90a1f724382c	5b3c1e73-475c-4b3b-a49a-0f11810c5223	g.chr20:17462414G>A	ENST00000262545.2	+	12	1931	c.1616G>A	c.(1615-1617)cGt>cAt	p.R539H	PCSK2_ENST00000377899.1_Missense_Mutation_p.R520H|PCSK2_ENST00000459871.1_3'UTR|PCSK2_ENST00000536609.1_Missense_Mutation_p.R504H	NM_002594.3	NP_002585.2	P16519	NEC2_HUMAN	proprotein convertase subtilisin/kexin type 2	539					cellular protein metabolic process (GO:0044267)|embryo development (GO:0009790)|enkephalin processing (GO:0034230)|insulin processing (GO:0030070)|islet amyloid polypeptide processing (GO:0034231)|nervous system development (GO:0007399)|protein autoprocessing (GO:0016540)|proteolysis (GO:0006508)	dendrite (GO:0030425)|extracellular space (GO:0005615)|membrane (GO:0016020)|perikaryon (GO:0043204)|secretory granule lumen (GO:0034774)	serine-type endopeptidase activity (GO:0004252)	p.R539H(1)		breast(2)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|lung(17)|ovary(3)|pancreas(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	53					"""Insulin(DB00071)|Insulin Regular(DB00030)"	CTGAGCCGGCGTCCAAGGGAT	0.577																																						ENST00000262545.2																			1	Substitution - Missense(1)	p.R539H(1)	prostate(1)	breast(2)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|lung(17)|ovary(3)|pancreas(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	53						c.(1615-1617)cGt>cAt		proprotein convertase subtilisin/kexin type 2	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)						91	71	77					20																	17462414		2203	4300	6503	SO:0001583	missense	5126				enkephalin processing|insulin processing|islet amyloid polypeptide processing	extracellular space|membrane|soluble fraction|transport vesicle	serine-type endopeptidase activity	g.chr20:17462414G>A	AK312341	CCDS13125.1, CCDS56179.1, CCDS56180.1	20p11.2	2008-08-01			ENSG00000125851	ENSG00000125851			8744	protein-coding gene	gene with protein product	"neuroendocrine convertase 2", "KEX2-like endoprotease 2"	162151		NEC2		1765368	Standard	NM_001201528		Approved	PC2, SPC2	uc002wpm.3	P16519	OTTHUMG00000031941	ENST00000262545.2:c.1616G>A	20.37:g.17462414G>A	ENSP00000262545:p.Arg539His					PCSK2_ENST00000459871.1_3'UTR|PCSK2_ENST00000377899.1_Missense_Mutation_p.R520H|PCSK2_ENST00000536609.1_Missense_Mutation_p.R504H	p.R539H	NM_002594.3	NP_002585.2	P16519	NEC2_HUMAN			12	1931	+			539					B1ANH9|B4DFQ3|Q14927|Q5JYQ1|Q8IWA8|Q9NQG3|Q9NUG1|Q9UJC6	Missense_Mutation	SNP	ENST00000262545.2	37	c.1616G>A	CCDS13125.1	.	.	.	.	.	.	.	.	.	.	G	33	5.279005	0.95489	.	.	ENSG00000125851	ENST00000377899;ENST00000262545;ENST00000536609	T;T;T	0.71817	-0.6;-0.6;-0.6	5.63	5.63	0.86233	Proprotein convertase, P (1);Galactose-binding domain-like (1);	0.048541	0.85682	D	0.000000	D	0.89371	0.6696	H	0.95574	3.69	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.91884	0.5518	10	0.87932	D	0	-20.863	18.6061	0.91266	0.0:0.0:1.0:0.0	.	504;520;539	B4DFQ3;B1ANH9;P16519	.;.;NEC2_HUMAN	H	520;539;504	ENSP00000367131:R520H;ENSP00000262545:R539H;ENSP00000437458:R504H	ENSP00000262545:R539H	R	+	2	0	PCSK2	17410414	1.000000	0.71417	0.979000	0.43373	0.961000	0.63080	9.773000	0.98989	2.803000	0.96430	0.585000	0.79938	CGT		0.577	PCSK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078120.2	NM_002594		28	38	0	0	0	1	0	28	38					A	17462414	G	A	17462414	3	1	34	1	0	0	0	0	1	0	0	0	11601	1145	40	1	1662	1	PCSK2	20	17462414	Missense_Mutation	SNP	G	TCGA-CH-5768-01A-11D-1576-08		17462414	45563106	67	1731											
SFI1	9814	broad.mit.edu	37	chr22	31971261	31971261	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcactgtgctccagatatacTtctgtgactggcagcaggcc	8	11	10	12	0	2	2	1	1	1	1	3	2	3	2	2	2	3	3	2	2	2	3			TCGA-CH-5768-01A-11D-1576-08	TCGA-CH-5768-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2aa9195-5cd4-4032-941e-90a1f724382c	5b3c1e73-475c-4b3b-a49a-0f11810c5223	g.chr22:31971261T>C	ENST00000400288.2	+	10	1072	c.967T>C	c.(967-969)Ttc>Ctc	p.F323L	SFI1_ENST00000400289.1_Missense_Mutation_p.F241L|SFI1_ENST00000443011.1_Missense_Mutation_p.F170L|SFI1_ENST00000414585.1_Missense_Mutation_p.F170L|SFI1_ENST00000443326.1_Missense_Mutation_p.F241L|SFI1_ENST00000540643.1_Missense_Mutation_p.F299L|SFI1_ENST00000432498.1_Missense_Mutation_p.F323L	NM_001007467.2	NP_001007468.1	A8K8P3	SFI1_HUMAN	Sfi1 homolog, spindle assembly associated (yeast)	323					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|negative regulation of phosphatase activity (GO:0010923)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)	phosphatase binding (GO:0019902)	p.F323L(1)		NS(2)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)	38						CCAGATATACTTCTGTGACTG	0.547																																						ENST00000432498.1																			1	Substitution - Missense(1)	p.F323L(1)	prostate(1)	NS(2)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)	38						c.(967-969)Ttc>Ctc		Sfi1 homolog, spindle assembly associated (yeast)							64	67	66					22																	31971261		2021	4179	6200	SO:0001583	missense	9814				G2/M transition of mitotic cell cycle	centriole|cytosol		g.chr22:31971261T>C	AB011114	CCDS43004.1, CCDS43005.1, CCDS58803.1, CCDS58804.1	22q12.2	2014-06-13			ENSG00000198089	ENSG00000198089			29064	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 139"	612765				14504268	Standard	NM_001007467		Approved	KIAA0542, PISD, PPP1R139	uc003ale.4	A8K8P3	OTTHUMG00000030249	ENST00000400288.2:c.967T>C	22.37:g.31971261T>C	ENSP00000383145:p.Phe323Leu					SFI1_ENST00000443326.1_Missense_Mutation_p.F241L|SFI1_ENST00000400288.2_Missense_Mutation_p.F323L|SFI1_ENST00000540643.1_Missense_Mutation_p.F299L|SFI1_ENST00000414585.1_Missense_Mutation_p.F170L|SFI1_ENST00000400289.1_Missense_Mutation_p.F241L|SFI1_ENST00000443011.1_Missense_Mutation_p.F170L	p.F323L	NM_014775.3	NP_055590.2	A8K8P3	SFI1_HUMAN			10	1360	+			323					A1L373|A1L387|A2A2L2|B1AKL9|B5MDB7|B7Z1V6|B7Z8G3|B7ZBE2|B7ZBE3|O60289|Q2TAN8|Q5W1B5|Q86TK0|Q8N4U8|Q8N8C1|Q8WU14	Missense_Mutation	SNP	ENST00000400288.2	37	c.967T>C	CCDS43004.1	.	.	.	.	.	.	.	.	.	.	T	12.38	1.921006	0.33908	.	.	ENSG00000198089	ENST00000432498;ENST00000540643;ENST00000443326;ENST00000421060;ENST00000414585;ENST00000443011;ENST00000400289;ENST00000400288	T;T;T;T;T;T;T	0.16743	2.77;2.69;2.41;2.32;2.37;2.41;2.65	5.49	5.49	0.81192	.	0.166030	0.53938	N	0.000054	T	0.09423	0.0232	N	0.08118	0	0.44006	D	0.996716	B;B;B;B;B;B	0.29766	0.031;0.021;0.082;0.008;0.001;0.256	B;B;B;B;B;B	0.28011	0.035;0.013;0.085;0.008;0.004;0.058	T	0.29088	-1.0023	10	0.34782	T	0.22	.	11.9945	0.53194	0.0:0.0:0.0:1.0	.	299;241;241;323;323;299	A8K8P3-9;A8K8P3-10;A8K8P3-3;A8K8P3-2;A8K8P3;A8K8P3-5	.;.;.;.;SFI1_HUMAN;.	L	323;299;241;299;170;170;241;323	ENSP00000402679:F323L;ENSP00000443025:F299L;ENSP00000416469:F241L;ENSP00000397148:F170L;ENSP00000401199:F170L;ENSP00000383146:F241L;ENSP00000383145:F323L	ENSP00000383145:F323L	F	+	1	0	SFI1	30301261	0.996000	0.38824	0.934000	0.37439	0.006000	0.05464	3.051000	0.49885	2.085000	0.62840	0.533000	0.62120	TTC		0.547	SFI1-023	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337180.3	NM_014775		3	94	0	0	0	1	0	3	94					C	31971261	T	C	31971261	3	2	34	1	0	0	0	0	1	0	0	0	14156	1609	56	4	1001	4	SFI1	22	31971261	Missense_Mutation	SNP	T	TCGA-CH-5768-01A-11D-1576-08		31971261	19333305	68	1732											
TXN2	25828	broad.mit.edu	37	chr22	36876770	36876770	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tgttacagtcaggccaccagGactgcattgtggggtctgca	8	10	13	10	0	2	0	1	0	1	0	2	1	2	1	2	4	3	3	2	4	1	2			TCGA-CH-5768-01A-11D-1576-08	TCGA-CH-5768-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2aa9195-5cd4-4032-941e-90a1f724382c	5b3c1e73-475c-4b3b-a49a-0f11810c5223	g.chr22:36876770G>A	ENST00000216185.2	-	2	581	c.115C>T	c.(115-117)Cct>Tct	p.P39S	TXN2_ENST00000403313.1_Missense_Mutation_p.P39S|TXN2_ENST00000487725.1_5'UTR|TXN2_ENST00000416967.1_5'UTR			Q99757	THIOM_HUMAN	thioredoxin 2	39					cell redox homeostasis (GO:0045454)|cellular response to nutrient levels (GO:0031669)|glycerol ether metabolic process (GO:0006662)|response to axon injury (GO:0048678)|response to drug (GO:0042493)|response to glucose (GO:0009749)|response to hormone (GO:0009725)|response to hypoxia (GO:0001666)|response to nutrient (GO:0007584)|response to organic cyclic compound (GO:0014070)|response to oxidative stress (GO:0006979)	dendrite (GO:0030425)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)|nucleolus (GO:0005730)	protein disulfide oxidoreductase activity (GO:0015035)	p.P39S(1)		breast(1)|lung(1)|prostate(1)	3						AGGCCACCAGGACTGCATTGT	0.552																																						ENST00000216185.2																			1	Substitution - Missense(1)	p.P39S(1)	prostate(1)	breast(1)|lung(1)|prostate(1)	3						c.(115-117)Cct>Tct		thioredoxin 2							122	108	113					22																	36876770		2203	4300	6503	SO:0001583	missense	25828				cell redox homeostasis|electron transport chain|glycerol ether metabolic process|transport	mitochondrion|nucleolus	electron carrier activity	g.chr22:36876770G>A	U78678	CCDS13928.1	22q13.1	2008-06-11			ENSG00000100348	ENSG00000100348			17772	protein-coding gene	gene with protein product		609063				9006939, 17220299	Standard	NM_012473		Approved	MT-TRX	uc003apk.1	Q99757	OTTHUMG00000150596	ENST00000216185.2:c.115C>T	22.37:g.36876770G>A	ENSP00000216185:p.Pro39Ser					TXN2_ENST00000487725.1_5'UTR|TXN2_ENST00000416967.1_5'UTR|TXN2_ENST00000403313.1_Missense_Mutation_p.P39S	p.P39S			Q99757	THIOM_HUMAN			2	581	-			39					Q5JZA0|Q6FH60|Q9UH29	Missense_Mutation	SNP	ENST00000216185.2	37	c.115C>T	CCDS13928.1	.	.	.	.	.	.	.	.	.	.	g	7.091	0.572130	0.13623	.	.	ENSG00000100348	ENST00000216185;ENST00000403313	T;T	0.11495	2.77;2.77	5.59	3.47	0.39725	.	0.347041	0.28821	N	0.014033	T	0.09468	0.0233	L	0.50333	1.59	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.39860	-0.9593	10	0.07325	T	0.83	-4.3909	11.0786	0.48047	0.0703:0.1333:0.7964:0.0	.	39	Q99757	THIOM_HUMAN	S	39	ENSP00000216185:P39S;ENSP00000385393:P39S	ENSP00000216185:P39S	P	-	1	0	TXN2	35206716	0.159000	0.22864	0.035000	0.18076	0.152000	0.21847	2.456000	0.44997	0.711000	0.32018	0.525000	0.51046	CCT		0.552	TXN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319016.1	NM_012473		35	86	0	0	0	1	0	35	86					A	36876770	G	A	36876770	3	1	34	1	0	0	0	0	1	0	0	0	16788	1174	41	3	397	3	TXN2	22	36876770	Missense_Mutation	SNP	G	TCGA-CH-5768-01A-11D-1576-08	4905509	36876770	14427796	69	1733											
C22orf40	150383	broad.mit.edu	37	chr22	46643050	46643050	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tgcacaaactgcagcacgagCcgaggaccaggaatctgtcc	12	5	11	13	2	1	0	0	0	1	0	2	4	2	2	3	2	5	3	3	2	2	0			TCGA-CH-5768-01A-11D-1576-08	TCGA-CH-5768-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2aa9195-5cd4-4032-941e-90a1f724382c	5b3c1e73-475c-4b3b-a49a-0f11810c5223	g.chr22:46643050C>T	ENST00000314567.3	-	3	605	c.182G>A	c.(181-183)gGc>gAc	p.G61D	CDPF1_ENST00000404583.1_Missense_Mutation_p.G61D|CDPF1_ENST00000475605.1_Intron|CDPF1_ENST00000404744.1_Missense_Mutation_p.G61D	NM_207327.4	NP_997210.3	Q6NVV7	CDPF1_HUMAN	cysteine-rich, DPF motif domain containing 1	61								p.G61D(1)									GCAGCACGAGCCGAGGACCAG	0.597																																						ENST00000314567.3																			1	Substitution - Missense(1)	p.G61D(1)	prostate(1)								c.(181-183)gGc>gAc		cysteine-rich, DPF motif domain containing 1							80	65	70					22																	46643050		2203	4300	6503	SO:0001583	missense	150383							g.chr22:46643050C>T		CCDS33670.1	22q13.31	2012-07-18	2012-07-18	2012-07-18	ENSG00000205643	ENSG00000205643			33710	protein-coding gene	gene with protein product			"chromosome 22 open reading frame 40"	C22orf40			Standard	NM_207327		Approved	LOC150383	uc003bhe.3	Q6NVV7	OTTHUMG00000030672	ENST00000314567.3:c.182G>A	22.37:g.46643050C>T	ENSP00000325301:p.Gly61Asp					CDPF1_ENST00000404744.1_Missense_Mutation_p.G61D|CDPF1_ENST00000475605.1_Intron|CDPF1_ENST00000404583.1_Missense_Mutation_p.G61D	p.G61D	NM_207327.4	NP_997210.3					3	605	-								A6NCA1|A9IU12|A9IU16|Q3ZCR8	Missense_Mutation	SNP	ENST00000314567.3	37	c.182G>A	CCDS33670.1	.	.	.	.	.	.	.	.	.	.	C	13.43	2.234294	0.39498	.	.	ENSG00000205643	ENST00000404583;ENST00000314567;ENST00000404744	T;T;T	0.63417	-0.04;-0.04;-0.04	5.31	5.31	0.75309	Cysteine-rich domain, DPF-motif (2);	0.000000	0.85682	D	0.000000	D	0.82453	0.5040	M	0.88906	2.99	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;0.999	D	0.85964	0.1472	10	0.87932	D	0	.	16.4833	0.84163	0.0:1.0:0.0:0.0	.	61;61;61	Q6NVV7;F6RAJ7;F6UL18	CV040_HUMAN;.;.	D	61	ENSP00000384451:G61D;ENSP00000325301:G61D;ENSP00000385460:G61D	ENSP00000325301:G61D	G	-	2	0	C22orf40	45021714	1.000000	0.71417	0.895000	0.35142	0.035000	0.12851	5.718000	0.68455	2.468000	0.83385	0.655000	0.94253	GGC		0.597	CDPF1-001	NOVEL	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000075560.4	NM_207327		3	24	0	0	0	1	0	3	24					T	46643050	C	T	46643050	3	4	34	1	0	0	0	0	1	0	0	0	2148	739	26	3	197	3	C22orf40	22	46643050	Missense_Mutation	SNP	C	TCGA-CH-5768-01A-11D-1576-08	9766280	46643050	4661516	70	1734											
TEX11	56159	broad.mit.edu	37	chrX	69844762	69844762	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	caaagctttttctgccacaaTttgttgtccattctaaaaag	12	15	5	9	0	2	0	0	0	2	0	3	0	3	0	2	0	2	2	2	0	5	6			TCGA-CH-5768-01A-11D-1576-08	TCGA-CH-5768-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2aa9195-5cd4-4032-941e-90a1f724382c	5b3c1e73-475c-4b3b-a49a-0f11810c5223	g.chrX:69844762T>C	ENST00000395889.2	-	20	1821	c.1666A>G	c.(1666-1668)Att>Gtt	p.I556V	TEX11_ENST00000374333.2_Missense_Mutation_p.I541V|TEX11_ENST00000344304.3_Missense_Mutation_p.I556V|TEX11_ENST00000374320.2_Missense_Mutation_p.I231V	NM_001003811.1	NP_001003811.1	Q8IYF3	TEX11_HUMAN	testis expressed 11	556					chiasma assembly (GO:0051026)|fertilization (GO:0009566)|male gonad development (GO:0008584)|male meiosis chromosome segregation (GO:0007060)|meiotic gene conversion (GO:0006311)|negative regulation of apoptotic process (GO:0043066)|reciprocal meiotic recombination (GO:0007131)|resolution of meiotic recombination intermediates (GO:0000712)|synaptonemal complex assembly (GO:0007130)	central element (GO:0000801)		p.I541V(1)		breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(13)|ovary(3)|prostate(3)|skin(3)	48	Renal(35;0.156)					TCTGCCACAATTTGTTGTCCA	0.318																																						ENST00000395889.2																			1	Substitution - Missense(1)	p.I541V(1)	prostate(1)	breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(13)|ovary(3)|prostate(3)|skin(3)	48						c.(1666-1668)Att>Gtt		testis expressed 11							111	96	101					X																	69844762		2201	4300	6501	SO:0001583	missense	0						protein binding	g.chrX:69844762T>C	AF285594	CCDS35323.1, CCDS43968.1	Xp11	2008-02-05	2007-03-13		ENSG00000120498	ENSG00000120498			11733	protein-coding gene	gene with protein product		300311	"testis expressed sequence 11"			11279525	Standard	NM_001003811		Approved	TSGA3, TGC1	uc004dyl.3	Q8IYF3	OTTHUMG00000021782	ENST00000395889.2:c.1666A>G	X.37:g.69844762T>C	ENSP00000379226:p.Ile556Val					TEX11_ENST00000374333.2_Missense_Mutation_p.I541V|TEX11_ENST00000344304.3_Missense_Mutation_p.I556V|TEX11_ENST00000374320.2_Missense_Mutation_p.I231V	p.I556V	NM_001003811.1	NP_001003811.1	Q8IYF3	TEX11_HUMAN			20	1821	-	Renal(35;0.156)		556					A8K8V6|Q5JQQ8|Q96LZ4|Q96M47|Q9BXU6	Missense_Mutation	SNP	ENST00000395889.2	37	c.1666A>G	CCDS35323.1	.	.	.	.	.	.	.	.	.	.	T	0.010	-1.756710	0.00657	.	.	ENSG00000120498	ENST00000374333;ENST00000395889;ENST00000374320;ENST00000344304	T;T;T;T	0.41065	1.01;1.01;1.01;1.01	3.73	-3.06	0.05379	.	0.883227	0.09818	N	0.751890	T	0.22003	0.0530	N	0.25144	0.715	0.09310	N	1	B;B	0.10296	0.003;0.002	B;B	0.06405	0.002;0.001	T	0.21381	-1.0247	9	.	.	.	1.2635	4.8348	0.13458	0.1978:0.5075:0.0:0.2947	.	541;556	Q8IYF3-3;Q8IYF3	.;TEX11_HUMAN	V	541;556;231;556	ENSP00000363453:I541V;ENSP00000379226:I556V;ENSP00000363440:I231V;ENSP00000340995:I556V	.	I	-	1	0	TEX11	69761487	0.154000	0.22792	0.117000	0.21633	0.981000	0.71138	-0.006000	0.12833	-0.621000	0.05633	-0.328000	0.08392	ATT		0.318	TEX11-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000359072.1			4	39	0	0	0	1	0	4	39					C	69844762	T	C	69844762	3	2	34	1	0	0	0	0	1	0	0	0	15771	1493	52	4	1204	4	TEX11	23	69844762	Missense_Mutation	SNP	T	TCGA-CH-5768-01A-11D-1576-08		69844762	85425798	71	1735											
DOCK11	139818	broad.mit.edu	37	chrX	117700566	117700566	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctagcagccaaggaaaagccGagaacatcatggcaagtttg	15	6	11	9	1	1	1	1	0	0	1	1	3	1	2	2	2	4	3	2	2	6	2			TCGA-CH-5768-01A-11D-1576-08	TCGA-CH-5768-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2aa9195-5cd4-4032-941e-90a1f724382c	5b3c1e73-475c-4b3b-a49a-0f11810c5223	g.chrX:117700566G>T	ENST00000276202.7	+	9	964	c.901G>T	c.(901-903)Gag>Tag	p.E301*	DOCK11_ENST00000276204.6_Nonsense_Mutation_p.E301*|Y_RNA_ENST00000384135.1_RNA	NM_144658.3	NP_653259.3	Q5JSL3	DOC11_HUMAN	dedicator of cytokinesis 11	301					blood coagulation (GO:0007596)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.E301*(1)		breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	84						AGGAAAAGCCGAGAACATCAT	0.398																																						ENST00000276204.6																			1	Substitution - Nonsense(1)	p.E301*(1)	prostate(1)	breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	84						c.(901-903)Gag>Tag		dedicator of cytokinesis 11							154	119	130					X																	117700566		2203	4300	6503	SO:0001587	stop_gained	139818				blood coagulation	cytosol	GTP binding	g.chrX:117700566G>T	AK125641	CCDS35373.1	Xq24	2013-10-25			ENSG00000147251	ENSG00000147251		"Pleckstrin homology (PH) domain containing"	23483	protein-coding gene	gene with protein product	"zizimin2"	300681				12432077, 16968698	Standard	NM_144658		Approved	FLJ32122, FLJ43653, ZIZ2, ACG	uc004eqp.2	Q5JSL3	OTTHUMG00000022256	ENST00000276202.7:c.901G>T	X.37:g.117700566G>T	ENSP00000276202:p.Glu301*					DOCK11_ENST00000276202.7_Nonsense_Mutation_p.E301*	p.E301*			Q5JSL3	DOC11_HUMAN			9	975	+			301					A6NMF0|Q66M66|Q6ZUJ5|Q86VU8|Q96MN3	Nonsense_Mutation	SNP	ENST00000276202.7	37	c.901G>T	CCDS35373.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.981265	0.74474	.	.	ENSG00000147251	ENST00000276204;ENST00000276202	.	.	.	5.42	4.55	0.56014	.	0.058953	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.09338	T	0.73	-23.3662	14.4524	0.67394	0.0:0.0:0.8517:0.1483	.	.	.	.	X	301	.	ENSP00000276202:E301X	E	+	1	0	DOCK11	117584594	1.000000	0.71417	0.801000	0.32222	0.001000	0.01503	8.709000	0.91379	1.043000	0.40175	-0.222000	0.12452	GAG		0.398	DOCK11-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000356002.1	NM_144658		3	40	1	0	0.115264	1	0.122292	3	40					T	117700566	G	T	117700566	4	4	34	1	0	0	0	0	0	1	0	0	4686	1059	37	5	935	5	DOCK11	23	117700566	Nonsense_Mutation	SNP	G	TCGA-CH-5768-01A-11D-1576-08	47855804	117700566	37569994	72	1736											
SMARCA1	6594	broad.mit.edu	37	chrX	128599698	128599698	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aactgatgaaatggagccttGtatcttgcaatctgtgtatt	11	15	9	6	0	2	2	0	2	2	0	2	3	2	3	1	1	3	3	1	1	5	5			TCGA-CH-5768-01A-11D-1576-08	TCGA-CH-5768-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2aa9195-5cd4-4032-941e-90a1f724382c	5b3c1e73-475c-4b3b-a49a-0f11810c5223	g.chrX:128599698G>T	ENST00000371122.4	-	23	2958	c.2829C>A	c.(2827-2829)taC>taA	p.Y943*	SMARCA1_ENST00000371121.3_Nonsense_Mutation_p.Y931*|SMARCA1_ENST00000371123.1_Nonsense_Mutation_p.Y931*	NM_003069.3	NP_003060.2	P28370	SMCA1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1	943					ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|brain development (GO:0007420)|chromatin remodeling (GO:0006338)|DNA strand renaturation (GO:0000733)|neuron differentiation (GO:0030182)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of neural precursor cell proliferation (GO:2000177)|transcription, DNA-templated (GO:0006351)	CERF complex (GO:0090537)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|NURF complex (GO:0016589)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)	p.Y943*(2)		biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(13)|ovary(5)|prostate(1)|skin(1)	45						ATGGAGCCTTGTATCTTGCAA	0.328																																						ENST00000371122.4																			2	Substitution - Nonsense(2)	p.Y943*(2)	prostate(2)	biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(13)|ovary(5)|prostate(1)|skin(1)	45						c.(2827-2829)taC>taA		SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1							97	82	87					X																	128599698		2203	4300	6503	SO:0001587	stop_gained	6594				ATP-dependent chromatin remodeling|brain development|neuron differentiation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	NURF complex	ATP binding|DNA binding|helicase activity|nucleosome binding|protein binding	g.chrX:128599698G>T	M88163	CCDS14612.1, CCDS76018.1, CCDS76019.1	Xq25	2008-02-05			ENSG00000102038	ENSG00000102038			11097	protein-coding gene	gene with protein product		300012		SNF2L1, SNF2L		1408766, 14609955	Standard	XM_005262461		Approved	SNF2LB, NURF140, ISWI, SWI	uc004eun.4	P28370	OTTHUMG00000022370	ENST00000371122.4:c.2829C>A	X.37:g.128599698G>T	ENSP00000360163:p.Tyr943*					SMARCA1_ENST00000371121.3_Nonsense_Mutation_p.Y931*|SMARCA1_ENST00000371123.1_Nonsense_Mutation_p.Y931*	p.Y943*	NM_003069.3	NP_003060.2	P28370	SMCA1_HUMAN			23	2958	-			943					Q5JV41|Q5JV42	Nonsense_Mutation	SNP	ENST00000371122.4	37	c.2829C>A	CCDS14612.1	.	.	.	.	.	.	.	.	.	.	G	41	8.723834	0.98929	.	.	ENSG00000102038	ENST00000371121;ENST00000371123;ENST00000371122;ENST00000450039	.	.	.	5.64	3.86	0.44501	.	0.000000	0.64402	D	0.000013	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-5.5966	9.2063	0.37291	0.2907:0.0:0.7093:0.0	.	.	.	.	X	931;931;943;922	.	ENSP00000360162:Y931X	Y	-	3	2	SMARCA1	128427379	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.675000	0.37555	1.132000	0.42129	0.544000	0.68410	TAC		0.328	SMARCA1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058206.1	NM_003069		69	20	1	0	2.79145e-41	1	3.23808e-41	69	20					T	128599698	G	T	128599698	4	4	34	1	0	0	0	0	0	1	0	0	14768	1372	48	5	343	5	SMARCA1	23	128599698	Nonsense_Mutation	SNP	G	TCGA-CH-5768-01A-11D-1576-08	10899132	128599698	26670862	73	1737											
CAMTA1	23261	broad.mit.edu	37	chr1	7723412	7723412	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gttgtgttccgatctccgcaGgagctggcggcagcgtgcat	5	10	15	11	4	1	0	0	0	1	0	3	2	2	1	2	3	3	6	2	3	0	2			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr1:7723412G>T	ENST00000303635.7	+	9	1012		c.e9-1		CAMTA1_ENST00000439411.2_Splice_Site	NM_015215.2	NP_056030.1	Q9Y6Y1	CMTA1_HUMAN	calmodulin binding transcription activator 1						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.?(1)		breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		GATCTCCGCAGGAGCTGGCGG	0.607			T	WWTR1	epitheliod hemangioendothelioma																																	ENST00000303635.7				Dom	yes		1	1p36.31-p36.23	611501	T	calmodulin binding transcription activator 1			M	WWTR1		epitheliod hemangioendothelioma		1	Unknown(1)	p.?(1)	prostate(1)	breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85						c.e9-1		calmodulin binding transcription activator 1							114	113	114					1																	7723412		2203	4300	6503	SO:0001630	splice_region_variant	23261				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding	g.chr1:7723412G>T	AB020640	CCDS30576.1, CCDS55574.1, CCDS55575.1	1p36.31-p36.23	2008-07-18			ENSG00000171735	ENSG00000171735			18806	protein-coding gene	gene with protein product		611501				11925432	Standard	NM_001195563		Approved	KIAA0833	uc001aoi.3	Q9Y6Y1	OTTHUMG00000001212	ENST00000303635.7:c.806-1G>T	1.37:g.7723412G>T						CAMTA1_ENST00000439411.2_Splice_Site		NM_015215.2	NP_056030.1	Q9Y6Y1	CMTA1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)	9	1012	+	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)						A7MBM4|G3V3Z7|Q5VUE1|Q6V701|Q8WYI3|Q96S92	Splice_Site	SNP	ENST00000303635.7	37		CCDS30576.1	.	.	.	.	.	.	.	.	.	.	G	13.61	2.288625	0.40494	.	.	ENSG00000171735	ENST00000303635;ENST00000439411	.	.	.	4.89	4.89	0.63831	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.0692	0.89400	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CAMTA1	7645999	1.000000	0.71417	1.000000	0.80357	0.415000	0.31203	9.760000	0.98935	2.271000	0.75665	0.549000	0.68633	.		0.607	CAMTA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000003588.3	NM_015215	Intron	52	246	1	0	7.71302e-15	0.870114	8.67193e-15	52	246					T	7723412	G	T	7723412	5	4	35	1	0	0	0	0	0	0	1	0	2613	1014	35	5	839	5	CAMTA1	1	7723412	Splice_Site	SNP	G	TCGA-CH-5769-01A-11D-1576-08		7723412	241527209	1	1738											
PRDM2	7799	broad.mit.edu	37	chr1	14105677	14105677	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tgatcatgaattcagagaagGcttcccaagacacaataaat	17	9	7	8	0	2	4	2	2	0	2	3	5	3	4	1	1	0	1	1	1	6	3	rs143566559	byFrequency	TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr1:14105677G>A	ENST00000235372.7	+	8	2243	c.1387G>A	c.(1387-1389)Gct>Act	p.A463T	PRDM2_ENST00000376048.5_Intron|PRDM2_ENST00000343137.4_Missense_Mutation_p.A262T|PRDM2_ENST00000311066.5_Missense_Mutation_p.A463T|PRDM2_ENST00000413440.1_Missense_Mutation_p.A262T|PRDM2_ENST00000505823.1_Intron|PRDM2_ENST00000503842.1_Intron	NM_012231.4	NP_036363.2	Q13029	PRDM2_HUMAN	PR domain containing 2, with ZNF domain	463					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.A463T(1)		endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(16)|lung(20)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	55	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145)		TTCAGAGAAGGCTTCCCAAGA	0.418													G|||	3	0.000599042	0.0023	0	5008	,	,		20246	0		0	False		,,,				2504	0					ENST00000235372.7																			1	Substitution - Missense(1)	p.A463T(1)	prostate(1)	endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(16)|lung(20)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	55						c.(1387-1389)Gct>Act		PR domain containing 2, with ZNF domain		G	THR/ALA,,THR/ALA,THR/ALA	1,4405	2.1+/-5.4	0,1,2202	42	40	41		784,,1387,1387	3.6	0.2	1	dbSNP_134	41	0,8600		0,0,4300	yes	missense,intron,missense,missense	PRDM2	NM_001007257.2,NM_001135610.1,NM_012231.4,NM_015866.4	58,,58,58	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign,,benign,benign	262/1482,,463/1719,463/1683	14105677	1,13005	2203	4300	6503	SO:0001583	missense	7799					Golgi apparatus|nucleus	DNA binding|histone-lysine N-methyltransferase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr1:14105677G>A	U17838	CCDS150.1, CCDS151.1, CCDS30603.1, CCDS44061.1	1p36	2011-07-01			ENSG00000116731	ENSG00000116731		"Chromatin-modifying enzymes / K-methyltransferases"	9347	protein-coding gene	gene with protein product	"retinoblastoma protein-binding zinc finger protein", "retinoblastoma protein-interacting zinc finger protein", "MTE-binding protein", "zinc-finger DNA-binding protein", "GATA-3 binding protein G3B"	601196				7538672	Standard	NM_012231		Approved	RIZ, RIZ1, RIZ2, KMT8, MTB-ZF, HUMHOXY1	uc001avi.3	Q13029	OTTHUMG00000007917	ENST00000235372.7:c.1387G>A	1.37:g.14105677G>A	ENSP00000235372:p.Ala463Thr					PRDM2_ENST00000505823.1_Intron|PRDM2_ENST00000503842.1_Intron|PRDM2_ENST00000311066.5_Missense_Mutation_p.A463T|PRDM2_ENST00000343137.4_Missense_Mutation_p.A262T|PRDM2_ENST00000376048.5_Intron|PRDM2_ENST00000413440.1_Missense_Mutation_p.A262T	p.A463T	NM_012231.4	NP_036363.2	Q13029	PRDM2_HUMAN	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145)	8	2243	+	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	463					B1AJZ4|B5MC68|Q13149|Q14550|Q5THJ1|Q5VUL9	Missense_Mutation	SNP	ENST00000235372.7	37	c.1387G>A	CCDS150.1	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	G	0.471	-0.884446	0.02530	2.27E-4	0.0	ENSG00000116731	ENST00000235372;ENST00000311066;ENST00000400800;ENST00000413440;ENST00000343137	T;T;T;T	0.01599	4.84;4.74;4.75;4.75	5.48	3.59	0.41128	.	0.545977	0.18598	N	0.136536	T	0.01287	0.0042	L	0.27053	0.805	0.09310	N	1	B;B;B;B	0.30824	0.091;0.001;0.296;0.147	B;B;B;B	0.27715	0.038;0.001;0.027;0.082	T	0.48468	-0.9033	10	0.14252	T	0.57	.	4.7868	0.13229	0.082:0.15:0.6128:0.1552	.	463;321;463;463	A8MW16;Q5THJ0;Q13029;Q13029-2	.;.;PRDM2_HUMAN;.	T	463;463;463;262;262	ENSP00000235372:A463T;ENSP00000312352:A463T;ENSP00000411103:A262T;ENSP00000341621:A262T	ENSP00000235372:A463T	A	+	1	0	PRDM2	13978264	0.105000	0.21958	0.170000	0.22879	0.400000	0.30750	2.782000	0.47758	0.655000	0.30866	-0.264000	0.10439	GCT		0.418	PRDM2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000021792.2	NM_012231		7	70	0	0	0	0.27861	0	7	70					A	14105677	G	A	14105677	3	1	35	1	0	0	0	0	1	0	0	0	12458	1203	42	3	1413	3	PRDM2	1	14105677	Missense_Mutation	SNP	G	TCGA-CH-5769-01A-11D-1576-08	6382265	14105677	235144944	2	1739											
UBR4	23352	broad.mit.edu	37	chr1	19467923	19467923	+	Frame_Shift_Del	DEL	G	G	-																															tcaggtgggatgtccagcatGggggggaagccctctgcgcc																								rs145307465		TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr1:19467923delG	ENST00000375254.3	-	57	8433	c.8406delC	c.(8404-8406)cccfs	p.P2802fs	UBR4_ENST00000375217.2_Frame_Shift_Del_p.P2830fs|UBR4_ENST00000375267.2_Frame_Shift_Del_p.P2802fs|UBR4_ENST00000375226.2_Frame_Shift_Del_p.P2813fs	NM_020765.2	NP_065816.2	Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	2802					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		TGTCCAGCATGGGGGGGAAGC	0.587																																						ENST00000375267.2																			0				breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171						c.(8404-8406)ccfs		ubiquitin protein ligase E3 component n-recognin 4							80	80	80					1																	19467923		2203	4300	6503	SO:0001589	frameshift_variant	23352				interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr1:19467923delG	AF348492	CCDS189.1	1p36.13	2008-06-23	2007-06-19	2007-06-19	ENSG00000127481	ENSG00000127481		"Ubiquitin protein ligase E3 component n-recognins"	30313	protein-coding gene	gene with protein product		609890	"zinc finger, UBR1 type 1"	ZUBR1		14702039, 10718198, 16055722	Standard	XM_005245802		Approved	KIAA1307, KIAA0462, RBAF600	uc001bbi.3	Q5T4S7	OTTHUMG00000002498	ENST00000375254.3:c.8406delC	1.37:g.19467923delG	ENSP00000364403:p.Pro2802fs					UBR4_ENST00000375226.2_Frame_Shift_Del_p.P2813fs|UBR4_ENST00000375217.2_Frame_Shift_Del_p.P2830fs|UBR4_ENST00000375254.3_Frame_Shift_Del_p.P2802fs	p.P2802fs			Q5T4S7	UBR4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)	57	8409	-		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)	2802					A8MPT2|A8MQ33|A8MQB1|O60646|O75050|Q4QRK5|Q5T4S8|Q5T4S9|Q5TBN8|Q5TBP2|Q6DKH8|Q6P4A4|Q7L8P7|Q8IXJ4|Q8TDN5|Q8WV67|Q9HA46|Q9P2N9|Q9UG82	Frame_Shift_Del	DEL	ENST00000375254.3	37	c.8406delC	CCDS189.1																																																																																				0.587	UBR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007085.1	NM_020765		9	178						9	178	---	---	---	---	-	19467923	G	-	19467923	7	5	35	1	0	1	0	1	0	0	0	0	16901	1335	47	0	7345	0	UBR4	1	19467923	Frame_Shift_Del	DEL	G	TCGA-CH-5769-01A-11D-1576-08	5362246	19467923	229782698	3	1740											
BAI2	576	broad.mit.edu	37	chr1	32221807	32221807	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gccgcaggccctgccggcagCgcggccacactcctcactcc	5	4	11	21	4	1	0	1	0	0	0	3	0	3	0	6	3	2	2	6	3	0	0			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr1:32221807C>T	ENST00000373658.3	-	4	972	c.631G>A	c.(631-633)Gct>Act	p.A211T	BAI2_ENST00000257070.4_Missense_Mutation_p.A211T|BAI2_ENST00000398547.1_Missense_Mutation_p.A199T|BAI2_ENST00000527361.1_Missense_Mutation_p.A211T|BAI2_ENST00000398538.1_Missense_Mutation_p.A199T|MIR4254_ENST00000581063.1_RNA|BAI2_ENST00000398542.1_Missense_Mutation_p.A199T|BAI2_ENST00000398556.3_Missense_Mutation_p.A214T|BAI2_ENST00000373655.2_Missense_Mutation_p.A211T	NM_001703.2	NP_001694.2	O60241	BAI2_HUMAN	brain-specific angiogenesis inhibitor 2	211					G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|neuropeptide signaling pathway (GO:0007218)|peripheral nervous system development (GO:0007422)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.A211T(1)		breast(5)|central_nervous_system(2)|endometrium(1)|large_intestine(7)|liver(2)|lung(24)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	55		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174)		STAD - Stomach adenocarcinoma(196;0.0557)		CTGCCGGCAGCGCGGCCACAC	0.647																																						ENST00000373658.3																			1	Substitution - Missense(1)	p.A211T(1)	prostate(1)	breast(5)|central_nervous_system(2)|endometrium(1)|large_intestine(7)|liver(2)|lung(24)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	55						c.(631-633)Gct>Act		brain-specific angiogenesis inhibitor 2							25	31	29					1																	32221807		2199	4298	6497	SO:0001583	missense	576				negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr1:32221807C>T	AB005298	CCDS72746.1, CCDS72747.1	1p35	2014-08-08			ENSG00000121753	ENSG00000121753		"-", "GPCR / Class B : Orphans"	944	protein-coding gene	gene with protein product		602683				9533023	Standard	XM_006710783		Approved		uc001btn.3	O60241	OTTHUMG00000003885	ENST00000373658.3:c.631G>A	1.37:g.32221807C>T	ENSP00000362762:p.Ala211Thr					BAI2_ENST00000398547.1_Missense_Mutation_p.A199T|BAI2_ENST00000373655.2_Missense_Mutation_p.A211T|BAI2_ENST00000398538.1_Missense_Mutation_p.A199T|BAI2_ENST00000398556.3_Missense_Mutation_p.A214T|BAI2_ENST00000527361.1_Missense_Mutation_p.A211T|BAI2_ENST00000398542.1_Missense_Mutation_p.A199T|BAI2_ENST00000257070.4_Missense_Mutation_p.A211T	p.A211T	NM_001703.2	NP_001694.2	O60241	BAI2_HUMAN		STAD - Stomach adenocarcinoma(196;0.0557)	4	972	-		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174)	211					B9EGK9|Q5T6K0|Q8NGW8|Q96GZ9	Missense_Mutation	SNP	ENST00000373658.3	37	c.631G>A	CCDS346.2	.	.	.	.	.	.	.	.	.	.	C	12.20	1.867277	0.32977	.	.	ENSG00000121753	ENST00000398556;ENST00000398547;ENST00000373658;ENST00000373655;ENST00000398542;ENST00000257070;ENST00000527361;ENST00000398538;ENST00000420125;ENST00000533175	T;T;T;T;T;T;T;T;T;T	0.41400	1.67;1.86;1.05;1.05;2.02;1.0;1.0;1.06;1.64;1.49	5.2	1.99	0.26369	.	0.168757	0.28641	N	0.014640	T	0.26122	0.0637	N	0.12182	0.205	0.09310	N	0.999999	P;D;D;P;D;D	0.63046	0.918;0.961;0.992;0.924;0.961;0.987	B;B;P;B;B;P	0.52189	0.109;0.387;0.692;0.147;0.409;0.496	T	0.12041	-1.0563	10	0.12766	T	0.61	.	4.5381	0.12043	0.2666:0.5245:0.1302:0.0787	.	199;211;199;199;211;211	A2A3C3;O60241-4;O60241-3;A2A3C1;O60241-2;O60241	.;.;.;.;.;BAI2_HUMAN	T	214;199;211;211;199;211;211;199;204;245	ENSP00000381564:A214T;ENSP00000381555:A199T;ENSP00000362762:A211T;ENSP00000362759:A211T;ENSP00000381550:A199T;ENSP00000257070:A211T;ENSP00000435397:A211T;ENSP00000381548:A199T;ENSP00000410921:A204T;ENSP00000437219:A245T	ENSP00000257070:A211T	A	-	1	0	BAI2	31994394	0.000000	0.05858	0.162000	0.22713	0.969000	0.65631	-0.199000	0.09491	0.649000	0.30751	0.462000	0.41574	GCT		0.647	BAI2-015	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000381838.1	NM_001703		9	86	0	0	0	0.307466	0	9	86					T	32221807	C	T	32221807	3	4	35	1	0	0	0	0	1	0	0	0	1299	768	27	1	4246	1	BAI2	1	32221807	Missense_Mutation	SNP	C	TCGA-CH-5769-01A-11D-1576-08	12753884	32221807	217028814	4	1741											
BMP8B	656	broad.mit.edu	37	chr1	40228862	40228862	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggccgagtagccttggggagCgatgacccagtcctgggggg	6	6	19	10	2	0	1	0	1	0	0	1	4	1	2	4	6	2	1	4	6	1	2			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr1:40228862C>T	ENST00000372827.3	-	6	1336	c.961G>A	c.(961-963)Gct>Act	p.A321T	PPIE_ENST00000372830.1_Intron|PPIE_ENST00000356511.2_Intron	NM_001720.3	NP_001711.2	P34820	BMP8B_HUMAN	bone morphogenetic protein 8b	321					cartilage development (GO:0051216)|cell differentiation (GO:0030154)|growth (GO:0040007)|ossification (GO:0001503)|skeletal system development (GO:0001501)	extracellular space (GO:0005615)				endometrium(1)|liver(1)|ovary(1)|urinary_tract(1)	4	all_cancers(7;5.56e-14)|all_lung(5;3.88e-17)|all_epithelial(6;3.78e-16)|Lung NSC(20;7.03e-07)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.87e-18)|Epithelial(16;1.92e-17)|all cancers(16;4.03e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			CCTTGGGGAGCGATGACCCAG	0.637																																						ENST00000372827.3																			0				endometrium(1)|liver(1)|ovary(1)|urinary_tract(1)	4						c.(961-963)Gct>Act		bone morphogenetic protein 8b							171	135	147					1																	40228862		2203	4300	6503	SO:0001583	missense	656				cartilage development|cell differentiation|growth|ossification	extracellular space	cytokine activity|growth factor activity	g.chr1:40228862C>T	BC023526	CCDS444.1	1p35-p32	2014-01-30	2008-05-22	2003-10-22	ENSG00000116985	ENSG00000116985		"Bone morphogenetic proteins", "Endogenous ligands"	1075	protein-coding gene	gene with protein product	"osteogenic protein 2"	602284	"bone morphogenetic protein 8 (osteogenic protein 2)"	BMP8		1460021, 9070944	Standard	NM_001720		Approved	OP-2	uc001cdz.1	P34820	OTTHUMG00000009247	ENST00000372827.3:c.961G>A	1.37:g.40228862C>T	ENSP00000361915:p.Ala321Thr					PPIE_ENST00000372830.1_Intron|PPIE_ENST00000356511.2_Intron	p.A321T	NM_001720.3	NP_001711.2	P34820	BMP8B_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;1.87e-18)|Epithelial(16;1.92e-17)|all cancers(16;4.03e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)		6	1336	-	all_cancers(7;5.56e-14)|all_lung(5;3.88e-17)|all_epithelial(6;3.78e-16)|Lung NSC(20;7.03e-07)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	321					E7EMY8|Q32NE5|Q53ZM7|Q9NUF0	Missense_Mutation	SNP	ENST00000372827.3	37	c.961G>A	CCDS444.1	.	.	.	.	.	.	.	.	.	.	C	26.8	4.776045	0.90195	.	.	ENSG00000116985	ENST00000372827	D	0.84730	-1.89	3.75	3.75	0.43078	Transforming growth factor beta, conserved site (1);Transforming growth factor-beta, C-terminal (3);	0.000000	0.85682	U	0.000000	D	0.95143	0.8426	H	0.98682	4.3	0.80722	D	1	D	0.89917	1.0	D	0.72338	0.977	D	0.96947	0.9692	10	0.87932	D	0	.	14.4873	0.67626	0.0:1.0:0.0:0.0	.	321	P34820	BMP8B_HUMAN	T	321	ENSP00000361915:A321T	ENSP00000361915:A321T	A	-	1	0	BMP8B	40001449	1.000000	0.71417	1.000000	0.80357	0.889000	0.51656	7.231000	0.78106	1.917000	0.55516	0.561000	0.74099	GCT		0.637	BMP8B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025641.1	NM_001720		9	162	0	0	0	0.361761	0	9	162					T	40228862	C	T	40228862	3	4	35	1	0	0	0	0	1	0	0	0	1467	768	27	1	255	1	BMP8B	1	40228862	Missense_Mutation	SNP	C	TCGA-CH-5769-01A-11D-1576-08	8007055	40228862	209021759	5	1742											
INADL	10207	broad.mit.edu	37	chr1	62393501	62393501	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aagaagatgcctttaccgacCgtgagtgccttttcactatt	10	13	8	10	2	1	3	1	1	0	2	1	4	1	3	4	0	3	0	4	0	4	6	rs371868730		TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr1:62393501C>T	ENST00000371158.2	+	27	3784	c.3670C>T	c.(3670-3672)Caa>Taa	p.Q1224*	INADL_ENST00000316485.6_Splice_Site_p.Q1224*	NM_176877.2	NP_795352	Q8NI35	INADL_HUMAN	InaD-like (Drosophila)	1224					cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|intracellular signal transduction (GO:0035556)|tight junction assembly (GO:0070830)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|tight junction (GO:0005923)		p.Q1224*(1)|p.Q1224K(1)		breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)	103						CTTTACCGACCGTGAGTGCCT	0.388																																						ENST00000371158.2																			2	Substitution - Missense(1)|Substitution - Nonsense(1)	p.Q1224*(1)|p.Q1224K(1)	prostate(1)|lung(1)	breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)	103						c.e27+1		InaD-like (Drosophila)							108	98	102					1																	62393501		2203	4300	6503	SO:0001630	splice_region_variant	10207				intracellular signal transduction|tight junction assembly	apical plasma membrane|perinuclear region of cytoplasm|tight junction	protein binding	g.chr1:62393501C>T	AB044807	CCDS617.2	1p31	2008-02-05			ENSG00000132849	ENSG00000132849			28881	protein-coding gene	gene with protein product		603199				9280290, 11374908	Standard	NM_176877		Approved	Cipp, PATJ	uc001dab.3	Q8NI35	OTTHUMG00000008560	ENST00000371158.2:c.3670+1C>T	1.37:g.62393501C>T						INADL_ENST00000316485.6_Splice_Site_p.Q1224_splice	p.Q1224_splice	NM_176877.2	NP_795352.2	Q8NI35	INADL_HUMAN			27	3784	+			1224					O15249|O43742|O60833|Q5VUA5|Q5VUA6|Q5VUA7|Q5VUA8|Q5VUA9|Q5VUB0|Q8WU78|Q9H3N9	Splice_Site	SNP	ENST00000371158.2	37	c.3670_splice	CCDS617.2	.	.	.	.	.	.	.	.	.	.	C	41	8.879051	0.98988	.	.	ENSG00000132849	ENST00000371158;ENST00000316485;ENST00000371156;ENST00000395513	.	.	.	4.45	-1.72	0.08107	.	0.299670	0.30528	N	0.009432	.	.	.	.	.	.	0.48452	D	0.999658	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	5.0719	0.14611	0.4197:0.1848:0.3955:0.0	.	.	.	.	X	1224	.	ENSP00000326199:Q1224X	Q	+	1	0	INADL	62166089	0.919000	0.31177	0.638000	0.29380	0.004000	0.04260	-0.150000	0.10189	-0.186000	0.10533	-1.074000	0.02243	CAA		0.388	INADL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023639.2	NM_170605	Nonsense_Mutation	5	47	0	0	0	0.184627	0	5	47					T	62393501	C	T	62393501	5	4	35	1	0	0	0	0	0	0	1	0	7731	666	23	2	3772	2	INADL	1	62393501	Splice_Site	SNP	C	TCGA-CH-5769-01A-11D-1576-08	22164639	62393501	186857120	6	1743											
KANK4	163782	broad.mit.edu	37	chr1	62740427	62740427	+	Frame_Shift_Del	DEL	G	G	-																															actcctgcttgttgaggcctGgggggcattaccaagcggtg																										TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr1:62740427delG	ENST00000371153.4	-	3	727	c.349delC	c.(349-351)cagfs	p.Q117fs	KANK4_ENST00000354381.3_Intron|KANK4_ENST00000371150.1_5'Flank	NM_181712.4	NP_859063.3	Q5T7N3	KANK4_HUMAN	KN motif and ankyrin repeat domains 4	117						cytoplasm (GO:0005737)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(49)|ovary(3)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	81						GTTGAGGCCTGGGGGGCATTA	0.607																																						ENST00000371153.4																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(49)|ovary(3)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	81						c.(349-351)agfs		KN motif and ankyrin repeat domains 4							41	48	45					1																	62740427		2198	4299	6497	SO:0001589	frameshift_variant	163782							g.chr1:62740427delG	AK096259	CCDS620.1	1p31.3	2013-10-11	2008-01-29	2008-01-29	ENSG00000132854	ENSG00000132854		"KN motif and ankyrin repeat domain containing", "Ankyrin repeat domain containing"	27263	protein-coding gene	gene with protein product		614612	"ankyrin repeat domain 38"	ANKRD38		17996375, 19554261	Standard	NM_181712		Approved	KIAA0172	uc001dah.4	Q5T7N3	OTTHUMG00000008971	ENST00000371153.4:c.349delC	1.37:g.62740427delG	ENSP00000360195:p.Gln117fs					KANK4_ENST00000354381.3_Intron	p.Q117fs	NM_181712.4	NP_859063.3	Q5T7N3	KANK4_HUMAN			3	727	-			117					B1ALP7|Q6P9A0|Q86T71|Q86VE6|Q8NAX3	Frame_Shift_Del	DEL	ENST00000371153.4	37	c.349delC	CCDS620.1																																																																																				0.607	KANK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024877.1	NM_181712		15	53						15	53	---	---	---	---	-	62740427	G	-	62740427	7	5	35	1	0	1	0	1	0	0	0	0	7979	1357	47	0	2670	0	KANK4	1	62740427	Frame_Shift_Del	DEL	G	TCGA-CH-5769-01A-11D-1576-08	346926	62740427	186510194	7	1744											
GBP3	2635	broad.mit.edu	37	chr1	89480252	89480252	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagttggtccatagcctgctGgttgatggttcccatgctat	6	14	11	10	0	0	1	0	1	0	0	2	1	2	1	3	3	3	5	3	3	2	5			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr1:89480252G>A	ENST00000370481.4	-	4	626	c.406C>T	c.(406-408)Cag>Tag	p.Q136*	GBP3_ENST00000475853.2_5'Flank	NM_018284.2	NP_060754.2	Q8WXF7	ATLA1_HUMAN	guanylate binding protein 3	184	GB1/RHD3-type G.				axonogenesis (GO:0007409)|cell death (GO:0008219)|endoplasmic reticulum organization (GO:0007029)|GTP catabolic process (GO:0006184)|protein homooligomerization (GO:0051260)	cell projection (GO:0042995)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|Golgi cis cisterna (GO:0000137)|integral component of membrane (GO:0016021)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)	p.Q136*(1)		breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	26		Lung NSC(277;0.123)		all cancers(265;0.0103)|Epithelial(280;0.0293)		ATAGCCTGCTGGTTGATGGTT	0.512																																						ENST00000370481.4																			1	Substitution - Nonsense(1)	p.Q136*(1)	prostate(1)	breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	26						c.(406-408)Cag>Tag		guanylate binding protein 3							207	173	185					1																	89480252		2203	4300	6503	SO:0001587	stop_gained	2635					integral to membrane	GTP binding|GTPase activity	g.chr1:89480252G>A	BC063819	CCDS717.2	1p22.2	2008-02-05			ENSG00000117226	ENSG00000117226			4184	protein-coding gene	gene with protein product		600413				7518790	Standard	NM_018284		Approved	FLJ10961	uc001dmt.3	Q9H0R5	OTTHUMG00000010616	ENST00000370481.4:c.406C>T	1.37:g.89480252G>A	ENSP00000359512:p.Gln136*						p.Q136*	NM_018284.2	NP_060754.2	Q9H0R5	GBP3_HUMAN		all cancers(265;0.0103)|Epithelial(280;0.0293)	4	626	-		Lung NSC(277;0.123)	136					A6NND5|A8K2C0|G5E9T1|O95890|Q69YH7|Q96FK0	Nonsense_Mutation	SNP	ENST00000370481.4	37	c.406C>T	CCDS717.2	.	.	.	.	.	.	.	.	.	.	G	26.8	4.767640	0.90020	.	.	ENSG00000117226	ENST00000370482;ENST00000370481;ENST00000235878	.	.	.	3.98	3.05	0.35203	.	0.129601	0.53938	D	0.000055	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	11.0773	0.48038	0.0:0.0:0.8141:0.1859	.	.	.	.	X	136	.	ENSP00000235878:Q136X	Q	-	1	0	GBP3	89252840	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.283000	0.43470	0.997000	0.38969	0.609000	0.83330	CAG		0.512	GBP3-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313541.3	NM_018284		24	158	0	0	0	0.693898	0	24	158					A	89480252	G	A	89480252	4	1	35	1	0	0	0	0	0	1	0	0	6275	1357	47	3	1413	3	GBP3	1	89480252	Nonsense_Mutation	SNP	G	TCGA-CH-5769-01A-11D-1576-08	26739825	89480252	159770369	8	1745											
SARS	6301	broad.mit.edu	37	chr1	109772145	109772145	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agagcggtttgagaacctccGagagattgggaaccttctgc	10	9	13	9	2	1	3	0	1	1	3	2	7	2	4	3	2	4	1	3	2	2	3			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr1:109772145G>A	ENST00000234677.2	+	4	473	c.398G>A	c.(397-399)cGa>cAa	p.R133Q	SARS_ENST00000369923.4_Missense_Mutation_p.R133Q	NM_006513.3	NP_006504.2	P49591	SYSC_HUMAN	seryl-tRNA synthetase	133					gene expression (GO:0010467)|selenocysteinyl-tRNA(Sec) biosynthetic process (GO:0097056)|seryl-tRNA aminoacylation (GO:0006434)|translation (GO:0006412)|tRNA aminoacylation for protein translation (GO:0006418)|tRNA processing (GO:0008033)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|RNA binding (GO:0003723)|serine-tRNA ligase activity (GO:0004828)	p.R133Q(1)		central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	17		all_epithelial(167;7.64e-05)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0301)|Lung(183;0.0677)|COAD - Colon adenocarcinoma(174;0.116)|Epithelial(280;0.233)	L-Serine(DB00133)	GAGAACCTCCGAGAGATTGGG	0.532																																						ENST00000369923.4																			1	Substitution - Missense(1)	p.R133Q(1)	prostate(1)	central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	17						c.(397-399)cGa>cAa		seryl-tRNA synthetase	L-Serine(DB00133)						196	193	194					1																	109772145		2203	4300	6503	SO:0001583	missense	6301				seryl-tRNA aminoacylation|tRNA processing	cytosol	ATP binding|protein binding|RNA binding|serine-tRNA ligase activity	g.chr1:109772145G>A	BC009390	CCDS795.1	1p13.3	2011-07-01			ENSG00000031698	ENSG00000031698	6.1.1.11	"Aminoacyl tRNA synthetases / Class II"	10537	protein-coding gene	gene with protein product	"serine tRNA ligase 1, cytoplasmic"	607529				9431993	Standard	NM_006513		Approved	SERS	uc001dwu.2	P49591	OTTHUMG00000011726	ENST00000234677.2:c.398G>A	1.37:g.109772145G>A	ENSP00000234677:p.Arg133Gln					SARS_ENST00000234677.2_Missense_Mutation_p.R133Q	p.R133Q			P49591	SYSC_HUMAN		Colorectal(144;0.0301)|Lung(183;0.0677)|COAD - Colon adenocarcinoma(174;0.116)|Epithelial(280;0.233)	4	409	+		all_epithelial(167;7.64e-05)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)	133					B2R6Y9|Q5T5C8|Q9NSE3	Missense_Mutation	SNP	ENST00000234677.2	37	c.398G>A	CCDS795.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.185295	0.78677	.	.	ENSG00000031698	ENST00000234677;ENST00000369923	T;T	0.42131	0.98;0.98	5.95	5.95	0.96441	tRNA-binding arm (1);	0.000000	0.85682	D	0.000000	T	0.40546	0.1121	M	0.82823	2.61	0.80722	D	1	D;P;D;D	0.60160	0.963;0.933;0.987;0.963	B;B;B;B	0.42062	0.374;0.374;0.374;0.374	T	0.45116	-0.9283	10	0.29301	T	0.29	-7.8747	19.9958	0.97383	0.0:0.0:1.0:0.0	.	133;133;133;133	Q0VGA5;Q53HA4;Q5T5C7;P49591	.;.;.;SYSC_HUMAN	Q	133	ENSP00000234677:R133Q;ENSP00000358939:R133Q	ENSP00000234677:R133Q	R	+	2	0	SARS	109573668	1.000000	0.71417	0.950000	0.38849	0.795000	0.44927	9.802000	0.99131	2.825000	0.97269	0.655000	0.94253	CGA		0.532	SARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032394.2	NM_006513		41	407	0	0	0	0.859065	0	41	407					A	109772145	G	A	109772145	3	1	35	1	0	0	0	0	1	0	0	0	13844	1058	37	2	412	2	SARS	1	109772145	Missense_Mutation	SNP	G	TCGA-CH-5769-01A-11D-1576-08	20291893	109772145	139478476	9	1746											
SV2A	9900	broad.mit.edu	37	chr1	149885321	149885321	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	accaccttcttggccgcatgCtttttgacttccttagcaat	7	15	6	13	1	1	1	0	1	1	0	2	1	2	1	4	1	2	3	4	1	2	6			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr1:149885321C>T	ENST00000369146.3	-	2	562	c.72G>A	c.(70-72)aaG>aaA	p.K24K	SV2A_ENST00000369145.1_Silent_p.K24K	NM_001278719.1|NM_014849.3	NP_001265648.1|NP_055664.3	Q7L0J3	SV2A_HUMAN	synaptic vesicle glycoprotein 2A	24	Interaction with SYT1. {ECO:0000250}.				cellular calcium ion homeostasis (GO:0006874)|neurotransmitter transport (GO:0006836)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuromuscular junction (GO:0031594)|neuron projection (GO:0043005)|presynaptic active zone (GO:0048786)|synaptic vesicle (GO:0008021)|synaptic vesicle membrane (GO:0030672)	protein kinase binding (GO:0019901)|receptor activity (GO:0004872)|transmembrane transporter activity (GO:0022857)	p.K24K(1)		breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(16)|ovary(6)|pancreas(1)|prostate(8)|skin(2)|urinary_tract(2)	55	Breast(34;0.00769)|all_hematologic(923;0.127)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)		Levetiracetam(DB01202)	TGGCCGCATGCTTTTTGACTT	0.547																																						ENST00000369146.3																			1	Substitution - coding silent(1)	p.K24K(1)	prostate(1)	breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(16)|ovary(6)|pancreas(1)|prostate(8)|skin(2)|urinary_tract(2)	55						c.(70-72)aaG>aaA		synaptic vesicle glycoprotein 2A	Levetiracetam(DB01202)						111	100	104					1																	149885321		2203	4300	6503	SO:0001819	synonymous_variant	0				neurotransmitter transport	cell junction|endoplasmic reticulum|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity	g.chr1:149885321C>T	AB018279	CCDS940.1	1q21.2	2008-02-05			ENSG00000159164	ENSG00000159164			20566	protein-coding gene	gene with protein product		185860				7681585, 10611374	Standard	NM_014849		Approved	SV2, KIAA0736	uc001etg.3	Q7L0J3	OTTHUMG00000012209	ENST00000369146.3:c.72G>A	1.37:g.149885321C>T						SV2A_ENST00000369145.1_Silent_p.K24K	p.K24K	NM_014849.3	NP_055664.3	Q7L0J3	SV2A_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)		2	562	-	Breast(34;0.00769)|all_hematologic(923;0.127)|Colorectal(459;0.171)		24			Interaction with SYT1 (By similarity).		D3DUZ7|O94841|Q5QNX8|Q7Z3L6|Q8NBJ6|Q9BVZ9	Silent	SNP	ENST00000369146.3	37	c.72G>A	CCDS940.1																																																																																				0.547	SV2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033754.1			36	133	0	0	0	0.812448	0	36	133					T	149885321	C	T	149885321	2	4	35	1	0	0	0	0	0	0	0	1	15414	796	28	3		3	SV2A	1	149885321	Silent	SNP	C	TCGA-CH-5769-01A-11D-1576-08	40113176	149885321	99365300	10	1747											
ADAR	103	broad.mit.edu	37	chr1	154560617	154560617	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaccgttctccaccttggtGcggagctttccttgtttggg	3	15	11	12	2	2	0	1	0	1	0	4	1	3	1	4	3	2	3	4	3	0	5			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr1:154560617G>A	ENST00000368474.4	-	11	3202	c.3003C>T	c.(3001-3003)cgC>cgT	p.R1001R	ADAR_ENST00000368471.3_Silent_p.R706R|ADAR_ENST00000292205.5_Silent_p.R1044R	NM_001111.4|NM_015840.3|NM_015841.3	NP_001102|NP_056655.2|NP_056656.2	P55265	DSRAD_HUMAN	adenosine deaminase, RNA-specific	1001	A to I editase. {ECO:0000255|PROSITE- ProRule:PRU00240}.				adenosine to inosine editing (GO:0006382)|base conversion or substitution editing (GO:0016553)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|miRNA loading onto RISC involved in gene silencing by miRNA (GO:0035280)|mRNA modification (GO:0016556)|mRNA processing (GO:0006397)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein kinase activity by regulation of protein phosphorylation (GO:0044387)|negative regulation of viral genome replication (GO:0045071)|positive regulation of viral genome replication (GO:0045070)|pre-miRNA processing (GO:0031054)|protein export from nucleus (GO:0006611)|protein import into nucleus (GO:0006606)|response to interferon-alpha (GO:0035455)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|supraspliceosomal complex (GO:0044530)	DNA binding (GO:0003677)|double-stranded RNA adenosine deaminase activity (GO:0003726)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(4)|prostate(2)|skin(2)	51	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.0997)		LUSC - Lung squamous cell carcinoma(543;0.185)	Colorectal(1306;0.115)		CCACCTTGGTGCGGAGCTTTC	0.557																																						ENST00000368474.4																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(4)|prostate(2)|skin(2)	51						c.(3001-3003)cgC>cgT		adenosine deaminase, RNA-specific							255	230	239					1																	154560617		2203	4300	6503	SO:0001819	synonymous_variant	103				adenosine to inosine editing|gene silencing by RNA|mRNA modification|mRNA processing|type I interferon-mediated signaling pathway	cytoplasm|nucleolus|nucleoplasm	DNA binding|double-stranded RNA adenosine deaminase activity|metal ion binding	g.chr1:154560617G>A	BC038227	CCDS1071.1, CCDS30879.1	1q21.3	2012-03-22			ENSG00000160710	ENSG00000160710	3.5.4.-		225	protein-coding gene	gene with protein product		146920	"interferon-induced protein 4"	IFI4, G1P1		7972084	Standard	NM_001111		Approved	ADAR1	uc001ffh.3	P55265	OTTHUMG00000037261	ENST00000368474.4:c.3003C>T	1.37:g.154560617G>A						ADAR_ENST00000368471.3_Silent_p.R706R|ADAR_ENST00000292205.5_Silent_p.R1044R	p.R1001R	NM_001111.4|NM_015840.3|NM_015841.3	NP_001102.2|NP_056655.2|NP_056656.2	P55265	DSRAD_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.185)	Colorectal(1306;0.115)	11	3202	-	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.0997)		1001			A to I editase.		B1AQQ9|B1AQR0|D3DV76|O15223|O43859|O43860|Q9BYM3|Q9BYM4	Silent	SNP	ENST00000368474.4	37	c.3003C>T	CCDS1071.1																																																																																				0.557	ADAR-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000090691.2	NM_001111		6	437	0	0	0	0.248553	0	6	437					A	154560617	G	A	154560617	2	1	35	1	0	0	0	0	0	0	0	1	281	1306	46	3		3	ADAR	1	154560617	Silent	SNP	G	TCGA-CH-5769-01A-11D-1576-08	4675296	154560617	94690004	11	1748											
LAMC1	3915	broad.mit.edu	37	chr1	183106827	183106827	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gccaccagcaccaaggcagaAgctgaaagaacttttgcaga	15	5	10	11	0	0	4	0	1	0	3	0	4	0	4	3	1	4	4	3	1	4	2			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr1:183106827A>C	ENST00000258341.4	+	26	4595	c.4338A>C	c.(4336-4338)gaA>gaC	p.E1446D	RP11-181K3.4_ENST00000457852.3_RNA	NM_002293.3	NP_002284.3	P11047	LAMC1_HUMAN	laminin, gamma 1 (formerly LAMB2)	1446	Domain II and I.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|endoderm development (GO:0007492)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|positive regulation of epithelial cell proliferation (GO:0050679)|protein complex assembly (GO:0006461)|substrate adhesion-dependent cell spreading (GO:0034446)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-11 complex (GO:0043260)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)	p.E1446D(2)		NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(27)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	76						CCAAGGCAGAAGCTGAAAGAA	0.373																																						ENST00000258341.4																			2	Substitution - Missense(2)	p.E1446D(2)	prostate(2)	NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(27)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	76						c.(4336-4338)gaA>gaC		laminin, gamma 1 (formerly LAMB2)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						58	53	55					1																	183106827		2203	4300	6503	SO:0001583	missense	3915				axon guidance|cell migration|endoderm development|extracellular matrix disassembly|hemidesmosome assembly|positive regulation of epithelial cell proliferation|protein complex assembly|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	extracellular matrix structural constituent	g.chr1:183106827A>C	J03202	CCDS1351.1	1q31	2013-03-01			ENSG00000135862	ENSG00000135862		"Laminins"	6492	protein-coding gene	gene with protein product		150290		LAMB2		3234037	Standard	NM_002293		Approved		uc001gpy.4	P11047	OTTHUMG00000035418	ENST00000258341.4:c.4338A>C	1.37:g.183106827A>C	ENSP00000258341:p.Glu1446Asp						p.E1446D	NM_002293.3	NP_002284.3	P11047	LAMC1_HUMAN			26	4595	+			1446			Domain II and I.		Q5VYE7	Missense_Mutation	SNP	ENST00000258341.4	37	c.4338A>C	CCDS1351.1	.	.	.	.	.	.	.	.	.	.	A	12.12	1.842293	0.32513	.	.	ENSG00000135862	ENST00000258341	T	0.78003	-1.14	5.64	-4.14	0.03892	.	0.296309	0.40908	N	0.000998	T	0.50086	0.1595	N	0.21097	0.63	0.37877	D	0.930255	B	0.02656	0.0	B	0.01281	0.0	T	0.29822	-0.9999	10	0.09338	T	0.73	.	3.0482	0.06160	0.3194:0.098:0.3901:0.1925	.	1446	P11047	LAMC1_HUMAN	D	1446	ENSP00000258341:E1446D	ENSP00000258341:E1446D	E	+	3	2	LAMC1	181373450	0.019000	0.18553	0.911000	0.35937	0.997000	0.91878	-1.098000	0.03346	-0.696000	0.05098	0.533000	0.62120	GAA		0.373	LAMC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085954.2	NM_002293		8	66	0	0	0	0.307466	0	8	66					C	183106827	A	C	183106827	3	2	35	1	0	0	0	0	1	0	0	0	8614	69	3	5	4440	5	LAMC1	1	183106827	Missense_Mutation	SNP	A	TCGA-CH-5769-01A-11D-1576-08	28546210	183106827	66143794	12	1749											
IVNS1ABP	10625	broad.mit.edu	37	chr1	185269161	185269161	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aggggcacagcttgtccacaActttgttacaggatcaaata	13	10	9	9	0	1	0	1	0	0	0	2	1	2	1	1	3	3	3	1	3	4	4			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr1:185269161A>G	ENST00000367498.3	-	13	2093	c.1471T>C	c.(1471-1473)Ttg>Ctg	p.L491L	IVNS1ABP_ENST00000459929.1_5'UTR|IVNS1ABP_ENST00000392007.3_Silent_p.L273L	NM_006469.4	NP_006460.2	Q9Y6Y0	NS1BP_HUMAN	influenza virus NS1A binding protein	491					negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|response to virus (GO:0009615)|RNA splicing (GO:0008380)|transcription from RNA polymerase III promoter (GO:0006383)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|spliceosomal complex (GO:0005681)|transcription factor complex (GO:0005667)		p.L491L(1)		breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|ovary(4)|prostate(2)	29						CTTGTCCACAACTTTGTTACA	0.353																																						ENST00000367498.3																			1	Substitution - coding silent(1)	p.L491L(1)	prostate(1)	breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|ovary(4)|prostate(2)	29						c.(1471-1473)Ttg>Ctg		influenza virus NS1A binding protein							114	103	107					1																	185269161		2203	4300	6503	SO:0001819	synonymous_variant	10625				interspecies interaction between organisms|response to virus|RNA splicing|transcription from RNA polymerase III promoter	cytoplasm|cytoskeleton|spliceosomal complex|transcription factor complex		g.chr1:185269161A>G	AB020657	CCDS1368.1	1q25.1-q31.1	2013-01-30			ENSG00000116679	ENSG00000116679		"Kelch-like", "BTB/POZ domain containing"	16951	protein-coding gene	gene with protein product	"kelch-like family member 39"	609209				9696811, 10048485	Standard	NM_006469		Approved	NS1-BP, HSPC068, NS-1, KIAA0850, ND1, KLHL39	uc001grl.3	Q9Y6Y0	OTTHUMG00000035384	ENST00000367498.3:c.1471T>C	1.37:g.185269161A>G						IVNS1ABP_ENST00000392007.3_Silent_p.L273L|IVNS1ABP_ENST00000459929.1_5'UTR	p.L491L	NM_006469.4	NP_006460.2	Q9Y6Y0	NS1BP_HUMAN			13	2093	-			491					A8K8R6|Q1G4T6|Q1G4T7|Q5TF75|Q6NW38|Q7LCG2|Q9NZX0|Q9Y480	Silent	SNP	ENST00000367498.3	37	c.1471T>C	CCDS1368.1																																																																																				0.353	IVNS1ABP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085774.1	NM_006469		10	58	0	0	0	0.335167	0	10	58					G	185269161	A	G	185269161	2	3	35	1	0	0	0	0	0	0	0	1	7930	40	2	4		4	IVNS1ABP	1	185269161	Silent	SNP	A	TCGA-CH-5769-01A-11D-1576-08	2162334	185269161	63981460	13	1750											
TP53BP2	7159	broad.mit.edu	37	chr1	223985959	223985959	+	Frame_Shift_Del	DEL	C	C	-																															ggtatgagtcttggtcaacgCgctctgcacagcctgctgga																										TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr1:223985959delC	ENST00000343537.7	-	12	2197	c.1906delG	c.(1906-1908)gcgfs	p.A636fs	TP53BP2_ENST00000391878.2_Frame_Shift_Del_p.A507fs|TP53BP2_ENST00000498843.1_5'UTR|TP53BP2_ENST00000391879.2_Intron	NM_001031685.2	NP_001026855.2	Q13625	ASPP2_HUMAN	tumor protein p53 binding protein 2	630					cell cycle (GO:0007049)|central nervous system development (GO:0007417)|embryo development ending in birth or egg hatching (GO:0009792)|heart development (GO:0007507)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|negative regulation of cell cycle (GO:0045786)|positive regulation of signal transduction (GO:0009967)|response to ionizing radiation (GO:0010212)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	identical protein binding (GO:0042802)|NF-kappaB binding (GO:0051059)|SH3/SH2 adaptor activity (GO:0005070)			NS(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(2)	29				GBM - Glioblastoma multiforme(131;0.0958)		TTGGTCAACGCGCTCTGCACA	0.478																																						ENST00000391878.2																			0				NS(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(2)	29						c.(1519-1521)cgfs		tumor protein p53 binding protein, 2							126	124	125					1																	223985959		2203	4300	6503	SO:0001589	frameshift_variant	7159				apoptosis|cell cycle|induction of apoptosis|negative regulation of cell cycle|signal transduction	nucleus|perinuclear region of cytoplasm	NF-kappaB binding|protein binding|SH3 domain binding|SH3/SH2 adaptor activity	g.chr1:223985959delC	U09582	CCDS1538.1, CCDS44319.1	1q41	2014-06-24	2014-06-24		ENSG00000143514	ENSG00000143514		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "Ankyrin repeat domain containing"	12000	protein-coding gene	gene with protein product		602143	"tumor protein p53-binding protein, 2"			8668206, 8016121	Standard	NM_005426		Approved	PPP1R13A, ASPP2, 53BP2	uc010pvb.2	Q13625	OTTHUMG00000037379	ENST00000343537.7:c.1906delG	1.37:g.223985959delC	ENSP00000341957:p.Ala636fs					TP53BP2_ENST00000391879.2_Intron|TP53BP2_ENST00000498843.1_5'UTR|TP53BP2_ENST00000343537.7_Frame_Shift_Del_p.A636fs	p.A507fs	NM_005426.2	NP_005417.1	Q13625	ASPP2_HUMAN		GBM - Glioblastoma multiforme(131;0.0958)	13	2287	-			630					B4DG66|Q12892|Q86X75|Q96KQ3	Frame_Shift_Del	DEL	ENST00000343537.7	37	c.1519delG	CCDS44319.1																																																																																				0.478	TP53BP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090985.3	NM_001031685, NM_005426		9	241						9	241	---	---	---	---	-	223985959	C	-	223985959	7	5	35	1	0	1	0	1	0	0	0	0	16381	768	27	0	1526	0	TP53BP2	1	223985959	Frame_Shift_Del	DEL	C	TCGA-CH-5769-01A-11D-1576-08	38716798	223985959	25264662	14	1751											
WNT9A	7483	broad.mit.edu	37	chr1	228111994	228111994	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	acggttctccaggtcgggtgCctcatcgcaggtacagcgct	6	9	13	13	4	2	0	1	0	1	0	5	0	2	0	2	4	3	4	2	4	1	2			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr1:228111994C>T	ENST00000272164.5	-	3	470	c.460G>A	c.(460-462)Gca>Aca	p.A154T		NM_003395.2	NP_003386.1	O14904	WNT9A_HUMAN	wingless-type MMTV integration site family, member 9A	154					canonical Wnt signaling pathway (GO:0060070)|cell fate commitment (GO:0045165)|cell-cell signaling (GO:0007267)|cellular response to retinoic acid (GO:0071300)|cornea development in camera-type eye (GO:0061303)|embryonic forelimb morphogenesis (GO:0035115)|embryonic skeletal joint development (GO:0072498)|embryonic skeletal system morphogenesis (GO:0048704)|iris morphogenesis (GO:0061072)|mitotic cell cycle checkpoint (GO:0007093)|multicellular organismal development (GO:0007275)|negative regulation of cartilage development (GO:0061037)|negative regulation of cell death (GO:0060548)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|neuron differentiation (GO:0030182)|positive regulation of cell differentiation (GO:0045597)|positive regulation of smoothened signaling pathway (GO:0045880)|Wnt signaling pathway (GO:0016055)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)	p.A154T(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	19		Prostate(94;0.0405)				AGGTCGGGTGCCTCATCGCAG	0.642																																						ENST00000272164.5																			1	Substitution - Missense(1)	p.A154T(1)	prostate(1)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	19						c.(460-462)Gca>Aca		wingless-type MMTV integration site family, member 9A							97	95	96					1																	228111994		2203	4300	6503	SO:0001583	missense	7483				anterior/posterior pattern formation|axis specification|canonical Wnt receptor signaling pathway|cell-cell signaling|cellular response to retinoic acid|cornea development in camera-type eye|embryonic arm morphogenesis|embryonic skeletal joint morphogenesis|endoderm development|iris morphogenesis|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|neuron differentiation|positive regulation of smoothened signaling pathway|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|G-protein-coupled receptor binding|signal transducer activity	g.chr1:228111994C>T	AB060283	CCDS31045.1	1q42	2008-02-05	2003-03-11	2003-03-14	ENSG00000143816	ENSG00000143816		"Wingless-type MMTV integration sites"	12778	protein-coding gene	gene with protein product		602863	"wingless-type MMTV integration site family, member 14"	WNT14		9441749	Standard	NM_003395		Approved		uc001hri.2	O14904	OTTHUMG00000037592	ENST00000272164.5:c.460G>A	1.37:g.228111994C>T	ENSP00000272164:p.Ala154Thr					WNT9A_ENST00000497852.1_5'UTR	p.A154T	NM_003395.2	NP_003386.1	O14904	WNT9A_HUMAN			3	470	-		Prostate(94;0.0405)	154					A6NLW2|Q2M2J3|Q5VWU0|Q96S50	Missense_Mutation	SNP	ENST00000272164.5	37	c.460G>A	CCDS31045.1	.	.	.	.	.	.	.	.	.	.	C	19.92	3.915611	0.73098	.	.	ENSG00000143816	ENST00000272164	T	0.75477	-0.94	4.78	4.78	0.61160	.	0.000000	0.85682	D	0.000000	T	0.54351	0.1853	N	0.11023	0.085	0.54753	D	0.999989	B	0.29341	0.242	B	0.33254	0.16	T	0.52298	-0.8594	10	0.10636	T	0.68	.	11.9921	0.53182	0.173:0.827:0.0:0.0	.	154	O14904	WNT9A_HUMAN	T	154	ENSP00000272164:A154T	ENSP00000272164:A154T	A	-	1	0	WNT9A	226178617	1.000000	0.71417	0.991000	0.47740	0.546000	0.35178	3.118000	0.50414	2.195000	0.70347	0.491000	0.48974	GCA		0.642	WNT9A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091646.1	NM_003395		30	178	0	0	0	0.729181	0	30	178					T	228111994	C	T	228111994	3	4	35	1	0	0	0	0	1	0	0	0	17395	739	26	3	645	3	WNT9A	1	228111994	Missense_Mutation	SNP	C	TCGA-CH-5769-01A-11D-1576-08	4126035	228111994	21138627	15	1752											
OBSCN	84033	broad.mit.edu	37	chr1	228456388	228456388	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agttccagctcgaaagtgcgCgtggaggccgtgggctgcac	7	7	16	11	4	0	0	0	0	0	0	2	2	1	1	2	3	3	4	2	3	1	1	rs375439636		TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr1:228456388C>T	ENST00000422127.1	+	17	5063	c.5019C>T	c.(5017-5019)cgC>cgT	p.R1673R	OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000570156.2_Silent_p.R1857R|OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000284548.11_Silent_p.R1673R|OBSCN_ENST00000359599.6_Silent_p.R329R|RP5-1139B12.2_ENST00000602517.1_RNA	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	1673	Ig-like 17.			RV -> HM (in Ref. 1; CAC85750). {ECO:0000305}.	apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)	p.R1673R(1)|p.R1765R(1)		NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CGAAAGTGCGCGTGGAGGCCG	0.682													C|||	1	0.000199681	0	0	5008	,	,		19980	0		0.001	False		,,,				2504	0					ENST00000570156.2																			2	Substitution - coding silent(2)	p.R1673R(1)|p.R1765R(1)	prostate(2)	NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223						c.(5569-5571)cgC>cgT		obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF		C	,	1,4169		0,1,2084	54	58	57		5019,5019	-6.9	0.2	1		57	4,8388		0,4,4192	no	coding-synonymous,coding-synonymous	OBSCN	NM_001098623.1,NM_052843.2	,	0,5,6276	TT,TC,CC		0.0477,0.024,0.0398	,	1673/7969,1673/6621	228456388	5,12557	2085	4196	6281	SO:0001819	synonymous_variant	84033				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	g.chr1:228456388C>T	AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"Rho guanine nucleotide exchange factors", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.5019C>T	1.37:g.228456388C>T						OBSCN_ENST00000284548.11_Silent_p.R1673R|OBSCN_ENST00000359599.6_Silent_p.R329R|OBSCN_ENST00000422127.1_Silent_p.R1673R|OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000366709.4_5'UTR	p.R1857R	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN			19	5645	+		Prostate(94;0.0405)	845			Ig-like 18.		Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Silent	SNP	ENST00000422127.1	37	c.5571C>T	CCDS58065.1																																																																																				0.682	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843		16	154	0	0	0	0.500413	0	16	154					T	228456388	C	T	228456388	2	4	35	1	0	0	0	0	0	0	0	1	10812	755	27	1		1	OBSCN	1	228456388	Silent	SNP	C	TCGA-CH-5769-01A-11D-1576-08	344394	228456388	20794233	16	1753											
DISC1	27185	broad.mit.edu	37	chr1	231830155	231830155	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agctttattcggctctcgctTggctctgccggggaacgtgg	4	12	14	11	4	2	0	0	0	2	0	4	1	2	1	1	5	3	4	1	5	2	4			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr1:231830155T>C	ENST00000602281.1	+	2	704	c.651T>C	c.(649-651)ctT>ctC	p.L217L	DISC1_ENST00000439617.2_Silent_p.L217L|DISC1_ENST00000539444.1_Silent_p.L217L|DISC1_ENST00000535983.1_Silent_p.L217L|DISC1_ENST00000602873.1_Intron|TSNAX-DISC1_ENST00000602962.1_3'UTR|DISC1_ENST00000366636.4_Silent_p.L217L|DISC1_ENST00000537876.1_Silent_p.L217L|DISC1_ENST00000317586.4_Silent_p.L217L|DISC1_ENST00000366633.3_Silent_p.L217L|DISC1_ENST00000366637.3_5'UTR	NM_001164542.1|NM_001164544.1	NP_001158014.1|NP_001158016.1	Q9NRI5	DISC1_HUMAN	disrupted in schizophrenia 1	217	Interaction with MAP1A.				canonical Wnt signaling pathway (GO:0060070)|cell proliferation in forebrain (GO:0021846)|cellular protein localization (GO:0034613)|cerebral cortex radially oriented cell migration (GO:0021799)|microtubule cytoskeleton organization (GO:0000226)|mitochondrial calcium ion homeostasis (GO:0051560)|neuron migration (GO:0001764)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of neuron projection development (GO:0010975)|regulation of synapse maturation (GO:0090128)|TOR signaling (GO:0031929)	cell junction (GO:0030054)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|postsynaptic membrane (GO:0045211)				breast(1)|cervix(1)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	15		all_cancers(173;0.0208)|Prostate(94;0.0975)				GGCTCTCGCTTGGCTCTGCCG	0.617																																						ENST00000439617.2																			0				breast(1)|cervix(1)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	15						c.(649-651)ctT>ctC		disrupted in schizophrenia 1							48	47	48					1																	231830155		2203	4300	6503	SO:0001819	synonymous_variant	27185				microtubule cytoskeleton organization|neuron migration|positive regulation of neuroblast proliferation|positive regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway	centrosome|microtubule	protein binding	g.chr1:231830155T>C	AF222980	CCDS31055.1, CCDS31056.1, CCDS53482.1, CCDS53483.1, CCDS53484.1, CCDS59205.1, CCDS59206.1, CCDS59207.1	1q42.1	2008-02-05			ENSG00000162946	ENSG00000162946			2888	protein-coding gene	gene with protein product		605210				10814723	Standard	NM_001164550		Approved		uc010pxh.2	Q9NRI5	OTTHUMG00000037835	ENST00000602281.1:c.651T>C	1.37:g.231830155T>C						DISC1_ENST00000317586.4_Silent_p.L217L|DISC1_ENST00000539444.1_Silent_p.L217L|DISC1_ENST00000602281.1_Silent_p.L217L|DISC1_ENST00000366636.4_Silent_p.L217L|DISC1_ENST00000366637.3_5'UTR|DISC1_ENST00000535983.1_Silent_p.L217L|DISC1_ENST00000366633.3_Silent_p.L217L|DISC1_ENST00000537876.1_Silent_p.L217L|TRAX_ENST00000602962.1_3'UTR|DISC1_ENST00000602873.1_Intron	p.L217L	NM_001164537.1|NM_001164540.1|NM_018662.2	NP_001158009.1|NP_001158012.1|NP_061132.2	Q9NRI5	DISC1_HUMAN			2	704	+		all_cancers(173;0.0208)|Prostate(94;0.0975)	217			Interaction with MAP1A.		A6NLH2|C4P091|C4P095|C4P0A1|C4P0A3|C4P0B3|C4P0B6|C4P0C1|C9J6D0|O75045|Q5VT44|Q5VT45|Q8IXJ0|Q8IXJ1|Q9BX19|Q9NRI3|Q9NRI4	Silent	SNP	ENST00000602281.1	37	c.651T>C	CCDS59205.1																																																																																				0.617	DISC1-019	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000467451.1	NM_018662		10	87	0	0	0	0.335167	0	10	87					C	231830155	T	C	231830155	2	2	35	1	0	0	0	0	0	0	0	1	4538	1799	63	4		4	DISC1	1	231830155	Silent	SNP	T	TCGA-CH-5769-01A-11D-1576-08	3373767	231830155	17420466	17	1754											
OR2M7	391196	broad.mit.edu	37	chr1	248487570	248487570	+	Frame_Shift_Del	DEL	T	T	-																															caatgatatatagaagaaaaTttgtgtggcacagccagcca																										TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr1:248487570delT	ENST00000317965.2	-	1	329	c.301delA	c.(301-303)attfs	p.I101fs		NM_001004691.1	NP_001004691.1	Q8NG81	OR2M7_HUMAN	olfactory receptor, family 2, subfamily M, member 7	101						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(6)|large_intestine(3)|lung(29)|skin(3)	42	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TAGAAGAAAATTTGTGTGGCA	0.468																																						ENST00000317965.2																			0				breast(1)|endometrium(6)|large_intestine(3)|lung(29)|skin(3)	42						c.(301-303)ttfs		olfactory receptor, family 2, subfamily M, member 7							187	196	193					1																	248487570		2203	4300	6503	SO:0001589	frameshift_variant	391196				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248487570delT	BK004486	CCDS31111.1	1q44	2012-08-09			ENSG00000177186	ENSG00000177186		"GPCR / Class A : Olfactory receptors"	19594	protein-coding gene	gene with protein product							Standard	NM_001004691		Approved		uc010pzk.2	Q8NG81	OTTHUMG00000040461	ENST00000317965.2:c.301delA	1.37:g.248487570delT	ENSP00000324557:p.Ile101fs						p.I101fs	NM_001004691.1	NP_001004691.1	Q8NG81	OR2M7_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	329	-	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		101					B2RNL0|Q6IEX6	Frame_Shift_Del	DEL	ENST00000317965.2	37	c.301delA	CCDS31111.1																																																																																				0.468	OR2M7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097357.1	NM_001004691		9	513						9	513	---	---	---	---	-	248487570	T	-	248487570	7	5	35	1	0	1	0	1	0	0	0	0	11014	1493	52	0	640	0	OR2M7	1	248487570	Frame_Shift_Del	DEL	T	TCGA-CH-5769-01A-11D-1576-08	16657415	248487570	763051	18	1755											
MYT1L	23040	broad.mit.edu	37	chr2	1926178	1926178	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	attgtccctcctcccagcttCcatggccatcttctccctca	5	13	4	19	0	3	0	1	0	2	0	8	0	7	0	6	1	1	1	6	1	0	3			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr2:1926178C>T	ENST00000399161.2	-	10	2110	c.1363G>A	c.(1363-1365)Gaa>Aaa	p.E455K	MYT1L_ENST00000428368.2_Missense_Mutation_p.E455K	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	455					cell differentiation (GO:0030154)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.E455K(2)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		CTCCCAGCTTCCATGGCCATC	0.532																																						ENST00000399161.2																			2	Substitution - Missense(2)	p.E455K(2)	prostate(2)	breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97						c.(1363-1365)Gaa>Aaa		myelin transcription factor 1-like							183	177	179					2																	1926178		2006	4158	6164	SO:0001583	missense	23040				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr2:1926178C>T	AF036943	CCDS46222.1	2p25.3	2013-01-10			ENSG00000186487	ENSG00000186487		"Zinc fingers, C2HC-type containing"	7623	protein-coding gene	gene with protein product	"neural zinc finger transcription factor 1"	613084				9373037	Standard	XM_006711862		Approved	KIAA1106, NZF1, ZC2HC4B	uc002qxd.3	Q9UL68	OTTHUMG00000151407	ENST00000399161.2:c.1363G>A	2.37:g.1926178C>T	ENSP00000382114:p.Glu455Lys					MYT1L_ENST00000428368.2_Missense_Mutation_p.E455K	p.E455K	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)	10	2110	-	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)	455					A7E2C7|B2RP54|Q6IQ17|Q9UPP6	Missense_Mutation	SNP	ENST00000399161.2	37	c.1363G>A		.	.	.	.	.	.	.	.	.	.	C	18.10	3.549300	0.65311	.	.	ENSG00000186487	ENST00000399161;ENST00000295067;ENST00000428368	T;T	0.50548	0.78;0.74	5.91	5.91	0.95273	.	0.095891	0.64402	D	0.000001	T	0.39489	0.1080	L	0.32530	0.975	0.58432	D	0.999999	P;P	0.42692	0.682;0.787	B;B	0.39379	0.156;0.298	T	0.13019	-1.0525	10	0.11182	T	0.66	-21.8558	20.2936	0.98544	0.0:1.0:0.0:0.0	.	455;455	Q9UL68;Q9UL68-4	MYT1L_HUMAN;.	K	455;403;455	ENSP00000382114:E455K;ENSP00000396103:E455K	ENSP00000295067:E403K	E	-	1	0	MYT1L	1905185	1.000000	0.71417	0.988000	0.46212	0.373000	0.29922	7.751000	0.85126	2.801000	0.96364	0.655000	0.94253	GAA		0.532	MYT1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000322493.1	NM_015025		32	207	0	0	0	0.769981	0	32	207					T	1926178	C	T	1926178	3	4	35	1	0	0	0	0	1	0	0	0	10107	864	30	3	2255	3	MYT1L	2	1926178	Missense_Mutation	SNP	C	TCGA-CH-5769-01A-11D-1576-08		1926178	241273195	19	1756											
PLB1	151056	broad.mit.edu	37	chr2	28761155	28761155	+	Intron	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcgtggtcctcctgcaggcAccctcacttagcacggttct	5	11	9	16	2	2	0	1	0	1	0	5	0	4	0	3	3	2	4	3	3	1	2			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr2:28761155A>C	ENST00000327757.5	+	10	599				PLB1_ENST00000422425.2_Silent_p.A186A	NM_153021.4	NP_694566.4	Q6P1J6	PLB1_HUMAN	phospholipase B1						glycerophospholipid biosynthetic process (GO:0046474)|lipid catabolic process (GO:0016042)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phospholipid metabolic process (GO:0006644)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	lysophospholipase activity (GO:0004622)|phospholipase A2 activity (GO:0004623)	p.A186A(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(31)|ovary(6)|prostate(1)|skin(7)|stomach(2)	69	Acute lymphoblastic leukemia(172;0.155)					TCCTGCAGGCACCCTCACTTA	0.627																																						ENST00000422425.2																			1	Substitution - coding silent(1)	p.A186A(1)	prostate(1)	NS(2)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(31)|ovary(6)|prostate(1)|skin(7)|stomach(2)	69						c.(556-558)gcA>gcC		phospholipase B1							47	43	44					2																	28761155		2203	4300	6503	SO:0001627	intron_variant	151056				lipid catabolic process|retinoid metabolic process|steroid metabolic process	apical plasma membrane|integral to membrane	lysophospholipase activity|phospholipase A2 activity|retinyl-palmitate esterase activity	g.chr2:28761155A>C		CCDS33168.1, CCDS54340.1	2p23.3	2014-03-14			ENSG00000163803	ENSG00000163803	3.1.1.4, 3.1.1.5		30041	protein-coding gene	gene with protein product		610179				12150957	Standard	NM_153021		Approved	PLB, FLJ30866	uc002rmb.2	Q6P1J6	OTTHUMG00000152014	ENST00000327757.5:c.556-31A>C	2.37:g.28761155A>C						PLB1_ENST00000327757.5_Intron	p.A186A	NM_001170585.1	NP_001164056.1	Q6P1J6	PLB1_HUMAN			10	602	+	Acute lymphoblastic leukemia(172;0.155)		185			4 X 308-326 AA approximate repeats.		A8KAX2|Q53S03|Q8IUP7|Q96DP9	Silent	SNP	ENST00000327757.5	37	c.558A>C	CCDS33168.1	.	.	.	.	.	.	.	.	.	.	A	9.422	1.083190	0.20309	.	.	ENSG00000163803	ENST00000404858	.	.	.	4.47	2.03	0.26663	.	.	.	.	.	T	0.23572	0.0570	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.21552	-1.0242	4	.	.	.	.	2.7045	0.05158	0.5947:0.0:0.2129:0.1924	.	.	.	.	P	185	.	.	H	+	2	0	PLB1	28614659	0.000000	0.05858	0.026000	0.17262	0.176000	0.22953	-0.175000	0.09825	0.322000	0.23283	0.402000	0.26972	CAC		0.627	PLB1-012	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000353348.2			3	39	0	0	0	0.115264	0	3	39					C	28761155	A	C	28761155	1	2	35	0	1	0	0	0	0	0	0	0	12024	146	6	5		5	PLB1	2	28761155	Intron	SNP	A	TCGA-CH-5769-01A-11D-1576-08	26834977	28761155	214438218	20	1757											
THADA	63892	broad.mit.edu	37	chr2	43458187	43458187	+	Frame_Shift_Del	DEL	A	A	-																															cttccccttcctttccttccAaaaaggccagcagcctcaag																										TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr2:43458187delA	ENST00000405006.4	-	38	6113	c.5762delT	c.(5761-5763)ttgfs	p.L1921fs	THADA_ENST00000405975.2_Frame_Shift_Del_p.L1921fs|THADA_ENST00000330266.7_Intron|AC010883.5_ENST00000423354.1_RNA|THADA_ENST00000415080.2_Frame_Shift_Del_p.L1602fs	NM_001083953.1|NM_001271643.1	NP_001077422.1|NP_001258572.1	Q6YHU6	THADA_HUMAN	thyroid adenoma associated	1921										breast(1)|endometrium(9)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	66		Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837)				CTTTCCTTCCAAAAAGGCCAG	0.488																																						ENST00000405006.4																			0				breast(1)|endometrium(9)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	66						c.(5761-5763)tgfs		thyroid adenoma associated							54	54	54					2																	43458187		1951	4146	6097	SO:0001589	frameshift_variant	63892						binding	g.chr2:43458187delA	AY149629	CCDS46268.1, CCDS62901.1, CCDS62902.1	2p21	2008-02-05			ENSG00000115970	ENSG00000115970			19217	protein-coding gene	gene with protein product		611800				12063398, 11214970	Standard	NM_022065		Approved	FLJ21877, KIAA1767, GITA	uc002rsx.4	Q6YHU6	OTTHUMG00000152398	ENST00000405006.4:c.5762delT	2.37:g.43458187delA	ENSP00000385995:p.Leu1921fs					AC010883.5_ENST00000423354.1_RNA|THADA_ENST00000415080.2_Frame_Shift_Del_p.L1602fs|THADA_ENST00000405975.2_Frame_Shift_Del_p.L1921fs|THADA_ENST00000330266.7_Intron	p.L1921fs	NM_001083953.1|NM_001271643.1	NP_001077422.1|NP_001258572.1	Q6YHU6	THADA_HUMAN			38	6113	-		Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837)	1921					A8K1V8|B7WNS6|Q3KR04|Q53RC6|Q53TB2|Q6YHU2|Q6ZU38|Q8IY32|Q8TAU8|Q96I88|Q9BZF7|Q9C096|Q9H6U0|Q9H6W7	Frame_Shift_Del	DEL	ENST00000405006.4	37	c.5762delT	CCDS46268.1																																																																																				0.488	THADA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326070.3	NM_022065		7	78						7	78	---	---	---	---	-	43458187	A	-	43458187	7	5	35	1	0	1	0	1	0	0	0	0	15837	131	5	0	103	0	THADA	2	43458187	Frame_Shift_Del	DEL	A	TCGA-CH-5769-01A-11D-1576-08	14697032	43458187	199741186	21	1758											
BCL11A	53335	broad.mit.edu	37	chr2	60688396	60688396	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gtgctgcatggagctgagcaCcatgccctgcatgacgtcgg	7	8	14	12	2	0	2	0	2	0	0	1	3	0	3	2	2	6	5	2	2	0	0			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr2:60688396C>T	ENST00000335712.6	-	4	1878	c.1651G>A	c.(1651-1653)Gtg>Atg	p.V551M	BCL11A_ENST00000477659.1_5'UTR|BCL11A_ENST00000358510.4_Missense_Mutation_p.V517M|BCL11A_ENST00000356842.4_Missense_Mutation_p.V551M|BCL11A_ENST00000537768.1_Missense_Mutation_p.V220M|BCL11A_ENST00000538214.1_Missense_Mutation_p.V517M|BCL11A_ENST00000359629.5_Intron	NM_022893.3	NP_075044.2	Q9H165	BC11A_HUMAN	B-cell CLL/lymphoma 11A (zinc finger protein)	551					B cell differentiation (GO:0030183)|negative regulation of axon extension (GO:0030517)|negative regulation of collateral sprouting (GO:0048671)|negative regulation of dendrite development (GO:2000171)|negative regulation of neuron projection development (GO:0010977)|negative regulation of protein homooligomerization (GO:0032463)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of collateral sprouting (GO:0048672)|positive regulation of neuron projection development (GO:0010976)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein sumoylation (GO:0016925)|regulation of dendrite development (GO:0050773)|T cell differentiation (GO:0030217)	cytoplasm (GO:0005737)|nuclear body (GO:0016604)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|transcription corepressor activity (GO:0003714)	p.V551M(3)		NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	59			LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)			GAGCTGAGCACCATGCCCTGC	0.716			T	IGH@	B-CLL																																	ENST00000335712.6				Dom	yes		2	2p13	53335	T	B-cell CLL/lymphoma 11A			L	IGH@		B-CLL		3	Substitution - Missense(3)	p.V551M(3)	prostate(3)	NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	59						c.(1651-1653)Gtg>Atg		B-cell CLL/lymphoma 11A (zinc finger protein)							22	22	22					2																	60688396		2197	4286	6483	SO:0001583	missense	53335				negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding	g.chr2:60688396C>T	AJ404611	CCDS1861.1, CCDS1862.1, CCDS46295.1	2p16.1	2013-01-08	2002-05-08		ENSG00000119866	ENSG00000119866		"Zinc fingers, C2H2-type"	13221	protein-coding gene	gene with protein product		606557	"ecotropic viral integration site 9"	EVI9		11719382, 18245381	Standard	NM_018014		Approved	BCL11A-XL, BCL11A-L, BCL11A-S, CTIP1, HBFQTL5, ZNF856	uc002sae.1	Q9H165	OTTHUMG00000129420	ENST00000335712.6:c.1651G>A	2.37:g.60688396C>T	ENSP00000338774:p.Val551Met					BCL11A_ENST00000477659.1_5'UTR|BCL11A_ENST00000537768.1_Missense_Mutation_p.V220M|BCL11A_ENST00000359629.5_Intron|BCL11A_ENST00000358510.4_Missense_Mutation_p.V517M|BCL11A_ENST00000356842.4_Missense_Mutation_p.V551M|BCL11A_ENST00000538214.1_Missense_Mutation_p.V517M	p.V551M	NM_022893.3	NP_075044.2	Q9H165	BC11A_HUMAN	LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)		4	1878	-			551					D6W5D7|Q86W14|Q8WU92|Q96JL6|Q9H163|Q9H164|Q9H3G9|Q9NWA7	Missense_Mutation	SNP	ENST00000335712.6	37	c.1651G>A	CCDS1862.1	.	.	.	.	.	.	.	.	.	.	C	8.459	0.854965	0.17106	.	.	ENSG00000119866	ENST00000356842;ENST00000378117;ENST00000538214;ENST00000537768;ENST00000335712;ENST00000358510	T;T;T;T;T	0.08807	3.05;3.32;3.2;3.31;3.26	5.56	4.69	0.59074	.	0.315085	0.29940	N	0.010804	T	0.08044	0.0201	N	0.22421	0.69	0.44227	D	0.997063	P;B;B;P;P	0.47604	0.846;0.379;0.189;0.898;0.898	B;B;B;B;B	0.43701	0.326;0.048;0.102;0.312;0.428	T	0.35574	-0.9783	10	0.34782	T	0.22	-2.7721	14.0428	0.64687	0.0:0.927:0.0:0.073	.	517;220;517;551;551	F5H2Y4;B4DT16;Q9H165-6;Q9H165;D9YZV9	.;.;.;BC11A_HUMAN;.	M	551;576;517;220;551;517	ENSP00000349300:V551M;ENSP00000438303:V517M;ENSP00000443712:V220M;ENSP00000338774:V551M;ENSP00000351307:V517M	ENSP00000338774:V551M	V	-	1	0	BCL11A	60541900	1.000000	0.71417	1.000000	0.80357	0.493000	0.33554	4.597000	0.61062	1.353000	0.45828	-0.142000	0.14014	GTG		0.716	BCL11A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251579.2	NM_022893		4	43	0	0	0	0.150653	0	4	43					T	60688396	C	T	60688396	3	4	35	1	0	0	0	0	1	0	0	0	1363	507	18	3	966	3	BCL11A	2	60688396	Missense_Mutation	SNP	C	TCGA-CH-5769-01A-11D-1576-08	17230209	60688396	182510977	22	1759											
TBC1D8	11138	broad.mit.edu	37	chr2	101656775	101656775	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcgaacagtccacaaccgcGtgcagcttctccttcctcgg	8	8	9	16	4	1	0	0	0	1	0	5	1	3	0	4	1	5	2	4	1	2	2	rs368260868		TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr2:101656775G>A	ENST00000376840.4	-	6	899	c.900C>T	c.(898-900)caC>caT	p.H300H	TBC1D8_ENST00000409318.1_Silent_p.H315H			O95759	TBCD8_HUMAN	TBC1 domain family, member 8 (with GRAM domain)	300	GRAM 2.				blood circulation (GO:0008015)|positive regulation of cell proliferation (GO:0008284)	membrane (GO:0016020)	calcium ion binding (GO:0005509)|Rab GTPase activator activity (GO:0005097)	p.H300H(1)|p.H315H(1)		breast(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(2)|lung(12)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	32						CCACAACCGCGTGCAGCTTCT	0.577													G|||	1	0.000199681	8e-04	0	5008	,	,		17651	0		0	False		,,,				2504	0					ENST00000409318.1																			2	Substitution - coding silent(2)	p.H300H(1)|p.H315H(1)	prostate(2)	breast(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(2)|lung(12)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	32						c.(943-945)caC>caT		TBC1 domain family, member 8 (with GRAM domain)		G		8,3986		0,8,1989	41	46	44		900	-3.6	0	2		44	0,8362		0,0,4181	no	coding-synonymous	TBC1D8	NM_001102426.1		0,8,6170	AA,AG,GG		0.0,0.2003,0.0647		300/1141	101656775	8,12348	1997	4181	6178	SO:0001819	synonymous_variant	11138				blood circulation|positive regulation of cell proliferation	intracellular|membrane	calcium ion binding|Rab GTPase activator activity	g.chr2:101656775G>A	AB024057	CCDS46375.1	2q12.1	2011-11-30			ENSG00000204634	ENSG00000204634			17791	protein-coding gene	gene with protein product	"BUB2-like protein 1", "vascular Rab-GAP/TBC-containing protein"					10373574	Standard	NM_001102426		Approved	HBLP1, VRP, AD3	uc010fiv.3	O95759	OTTHUMG00000153040	ENST00000376840.4:c.900C>T	2.37:g.101656775G>A						TBC1D8_ENST00000376840.4_Silent_p.H300H	p.H315H	NM_001102426.1	NP_001095896.1	O95759	TBCD8_HUMAN			6	1075	-			300			GRAM 2.		A6NDL4|A8K9W1|B9A6K4|Q53SQ4|Q9UQ32	Silent	SNP	ENST00000376840.4	37	c.945C>T	CCDS46375.1																																																																																				0.577	TBC1D8-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376092.1	NM_007063		17	45	0	0	0	0.520397	0	17	45					A	101656775	G	A	101656775	2	1	35	1	0	0	0	0	0	0	0	1	15622	1136	40	1		1	TBC1D8	2	101656775	Silent	SNP	G	TCGA-CH-5769-01A-11D-1576-08	40968379	101656775	141542598	23	1760											
ARHGAP15	55843	broad.mit.edu	37	chr2	144381770	144381770	+	Frame_Shift_Del	DEL	T	T	-																															tcaccggagcactgaagatgTttttccgggagctgcctgag																										TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr2:144381770delT	ENST00000295095.6	+	12	1239	c.1072delT	c.(1072-1074)tttfs	p.F359fs		NM_018460.3	NP_060930.3	Q53QZ3	RHG15_HUMAN	Rho GTPase activating protein 15	359	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				positive regulation of Rac GTPase activity (GO:0032855)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)	Rac GTPase activator activity (GO:0030675)			endometrium(1)|kidney(5)|large_intestine(8)|liver(2)|lung(15)|ovary(1)|skin(2)	34				BRCA - Breast invasive adenocarcinoma(221;0.151)		ACTGAAGATGTTTTTCCGGGA	0.502																																						ENST00000295095.6																			0				endometrium(1)|kidney(5)|large_intestine(8)|liver(2)|lung(15)|ovary(1)|skin(2)	34						c.(1072-1074)ttfs		Rho GTPase activating protein 15							103	96	98					2																	144381770		2203	4300	6503	SO:0001589	frameshift_variant	55843				regulation of cell shape|small GTPase mediated signal transduction	cytosol|membrane	protein binding|Rac GTPase activator activity	g.chr2:144381770delT	AY219338	CCDS2184.1	2q22.2-q22.3	2013-01-10			ENSG00000075884	ENSG00000075884		"Rho GTPase activating proteins", "Pleckstrin homology (PH) domain containing"	21030	protein-coding gene	gene with protein product		610578				12650940, 11042152	Standard	NM_018460		Approved	BM046	uc002tvm.4	Q53QZ3	OTTHUMG00000131845	ENST00000295095.6:c.1072delT	2.37:g.144381770delT	ENSP00000295095:p.Phe359fs						p.F359fs	NM_018460.3	NP_060930.3	Q53QZ3	RHG15_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.151)	12	1239	+			359			Rho-GAP.		Q53R36|Q53RD7|Q53RT6|Q53SX9|Q584N9|Q6PJE6|Q86WP1|Q8IXX1|Q9NRL8|Q9NZ77|Q9NZ91	Frame_Shift_Del	DEL	ENST00000295095.6	37	c.1072delT	CCDS2184.1																																																																																				0.502	ARHGAP15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254793.2	NM_018460		15	87						15	87	---	---	---	---	-	144381770	T	-	144381770	7	5	35	1	0	1	0	1	0	0	0	0	866	1725	60	0	1114	0	ARHGAP15	2	144381770	Frame_Shift_Del	DEL	T	TCGA-CH-5769-01A-11D-1576-08	42724995	144381770	98817603	24	1761											
UBR3	130507	broad.mit.edu	37	chr2	170938348	170938348	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggggtccacattacaatgggCtgtgactctccacctcagca	9	9	10	13	0	2	1	1	1	1	0	4	1	3	1	3	3	2	2	3	3	2	1			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr2:170938348C>T	ENST00000272793.5	+	39	5712	c.5662C>T	c.(5662-5664)Ctg>Ttg	p.L1888L	UBR3_ENST00000392631.1_Silent_p.L709L|UBR3_ENST00000418381.1_Silent_p.L1888L			Q6ZT12	UBR3_HUMAN	ubiquitin protein ligase E3 component n-recognin 3 (putative)	1888					embryo development (GO:0009790)|in utero embryonic development (GO:0001701)|olfactory behavior (GO:0042048)|sensory perception of smell (GO:0007608)|suckling behavior (GO:0001967)|ubiquitin-dependent protein catabolic process (GO:0006511)	integral component of membrane (GO:0016021)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.L741L(1)|p.L1888L(1)		breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(3)|stomach(1)	33						TTACAATGGGCTGTGACTCTC	0.358																																						ENST00000272793.5																			2	Substitution - coding silent(2)	p.L741L(1)|p.L1888L(1)	prostate(2)	breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(3)|stomach(1)	33						c.(5662-5664)Ctg>Ttg		ubiquitin protein ligase E3 component n-recognin 3 (putative)							132	132	132					2																	170938348		2203	4300	6503	SO:0001819	synonymous_variant	130507				sensory perception of smell|suckling behavior|ubiquitin-dependent protein catabolic process	integral to membrane	ubiquitin-protein ligase activity|zinc ion binding	g.chr2:170938348C>T	AL834144	CCDS2238.2	2q31.1	2008-06-23	2008-06-23	2007-11-29	ENSG00000144357	ENSG00000144357		"Ubiquitin protein ligase E3 component n-recognins"	30467	protein-coding gene	gene with protein product		613831	"zinc finger protein 650"	ZNF650		17462990	Standard	NM_172070		Approved	KIAA2024, DKFZp434P117, FLJ37422	uc010zdi.2	Q6ZT12	OTTHUMG00000132229	ENST00000272793.5:c.5662C>T	2.37:g.170938348C>T						UBR3_ENST00000392631.1_Silent_p.L709L|UBR3_ENST00000418381.1_Silent_p.L1888L	p.L1888L			Q6ZT12	UBR3_HUMAN			39	5712	+			1888					B4DZR7|Q2KHN5|Q6ZR55|Q6ZSC2|Q8IVE7|Q8ND96	Silent	SNP	ENST00000272793.5	37	c.5662C>T																																																																																					0.358	UBR3-001	KNOWN	non_canonical_conserved|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000255290.2	NM_172070		8	113	0	0	0	0.307466	0	8	113					T	170938348	C	T	170938348	2	4	35	1	0	0	0	0	0	0	0	1	16900	796	28	3		3	UBR3	2	170938348	Silent	SNP	C	TCGA-CH-5769-01A-11D-1576-08	26556578	170938348	72261025	25	1762											
TLK1	9874	broad.mit.edu	37	chr2	171863509	171863509	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agttttctttcttctcatctCtccagcttttattaagctga	7	20	4	10	0	4	1	1	1	4	0	7	1	5	1	1	0	2	3	1	0	2	7			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr2:171863509C>A	ENST00000431350.2	-	15	1885	c.1481G>T	c.(1480-1482)aGa>aTa	p.R494I	TLK1_ENST00000442919.2_Missense_Mutation_p.R446I|TLK1_ENST00000521943.1_Missense_Mutation_p.R446I|TLK1_ENST00000360843.3_Missense_Mutation_p.R515I|TLK1_ENST00000434911.2_Missense_Mutation_p.R398I			Q9UKI8	TLK1_HUMAN	tousled-like kinase 1	494	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell cycle (GO:0007049)|cellular response to DNA damage stimulus (GO:0006974)|chromatin modification (GO:0016568)|intracellular protein transport (GO:0006886)|intracellular signal transduction (GO:0035556)|protein phosphorylation (GO:0006468)|regulation of chromatin assembly or disassembly (GO:0001672)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(8)|liver(3)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	33						CTTCTCATCTCTCCAGCTTTT	0.294																																						ENST00000442919.2																			0				breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(8)|liver(3)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	33						c.(1336-1338)aGa>aTa		tousled-like kinase 1							88	83	84					2																	171863509		2200	4295	6495	SO:0001583	missense	9874				cell cycle|chromatin modification|intracellular protein transport|intracellular signal transduction|regulation of chromatin assembly or disassembly|response to DNA damage stimulus	nucleus	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr2:171863509C>A	AB004885	CCDS2241.1, CCDS46447.1, CCDS46448.1	2q31.1	2010-04-19			ENSG00000198586	ENSG00000198586			11841	protein-coding gene	gene with protein product		608438				9427565, 12660173	Standard	NM_012290		Approved	KIAA0137, PKU-BETA	uc002ugp.2	Q9UKI8	OTTHUMG00000132243	ENST00000431350.2:c.1481G>T	2.37:g.171863509C>A	ENSP00000411099:p.Arg494Ile					TLK1_ENST00000360843.3_Missense_Mutation_p.R515I|TLK1_ENST00000521943.1_Missense_Mutation_p.R446I|TLK1_ENST00000434911.2_Missense_Mutation_p.R398I|TLK1_ENST00000431350.2_Missense_Mutation_p.R494I	p.R446I	NM_012290.4	NP_036422.3	Q9UKI8	TLK1_HUMAN			15	1952	-			494					B3KR15|B4DX87|Q14150|Q8N591|Q9NYH2|Q9Y4F6	Missense_Mutation	SNP	ENST00000431350.2	37	c.1337G>T	CCDS2241.1	.	.	.	.	.	.	.	.	.	.	C	26.3	4.722188	0.89298	.	.	ENSG00000198586	ENST00000442919;ENST00000431350;ENST00000360843;ENST00000521943;ENST00000434911	T;T;T;T;T	0.65549	-0.16;-0.16;-0.16;-0.16;-0.16	4.95	4.95	0.65309	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.70954	0.3283	L	0.39467	1.215	0.80722	D	1	P;P;D	0.57571	0.707;0.917;0.98	P;P;P	0.61070	0.61;0.614;0.883	T	0.74494	-0.3647	10	0.87932	D	0	.	18.616	0.91303	0.0:1.0:0.0:0.0	.	398;515;494	B4DX87;Q9UKI8-2;Q9UKI8	.;.;TLK1_HUMAN	I	446;494;515;446;398	ENSP00000402165:R446I;ENSP00000411099:R494I;ENSP00000354089:R515I;ENSP00000428113:R446I;ENSP00000409222:R398I	ENSP00000354089:R515I	R	-	2	0	TLK1	171571755	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.815000	0.86186	2.481000	0.83766	0.454000	0.30748	AGA		0.294	TLK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255314.1	NM_012290		6	60	1	0	3.59834e-05	0.217242	3.83823e-05	6	60					A	171863509	C	A	171863509	3	1	35	1	0	0	0	0	1	0	0	0	15940	913	32	5	847	5	TLK1	2	171863509	Missense_Mutation	SNP	C	TCGA-CH-5769-01A-11D-1576-08	925161	171863509	71335864	26	1763											
COL6A3	1293	broad.mit.edu	37	chr2	238274526	238274526	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggccaccactgacacacgcaCggtgggcgagcggccaccgc	8	2	14	17	5	0	1	0	1	0	0	0	2	0	1	4	4	1	1	4	4	0	0			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr2:238274526C>T	ENST00000295550.4	-	12	6105	c.5653G>A	c.(5653-5655)Gtg>Atg	p.V1885M	COL6A3_ENST00000409809.1_Missense_Mutation_p.V1679M|COL6A3_ENST00000346358.4_Missense_Mutation_p.V1685M|COL6A3_ENST00000353578.4_Missense_Mutation_p.V1679M|COL6A3_ENST00000347401.3_Missense_Mutation_p.V1684M|COL6A3_ENST00000472056.1_Missense_Mutation_p.V1278M	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	1885	Nonhelical region.|VWFA 10. {ECO:0000255|PROSITE- ProRule:PRU00219}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|response to glucose (GO:0009749)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.V1885M(1)		breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		GACACACGCACGGTGGGCGAG	0.612																																						ENST00000295550.4																			1	Substitution - Missense(1)	p.V1885M(1)	prostate(1)	breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217						c.(5653-5655)Gtg>Atg		collagen, type VI, alpha 3							66	67	67					2																	238274526		2203	4300	6503	SO:0001583	missense	1293				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity	g.chr2:238274526C>T	X52022	CCDS33409.1, CCDS33410.1, CCDS33411.1, CCDS33412.1, CCDS33410.2, CCDS33411.2, CCDS54439.1	2q37	2014-09-17			ENSG00000163359	ENSG00000163359		"Collagens"	2213	protein-coding gene	gene with protein product		120250				1339440, 11992252	Standard	NM_004369		Approved		uc002vwl.2	P12111	OTTHUMG00000150020	ENST00000295550.4:c.5653G>A	2.37:g.238274526C>T	ENSP00000295550:p.Val1885Met					COL6A3_ENST00000346358.4_Missense_Mutation_p.V1685M|COL6A3_ENST00000353578.4_Missense_Mutation_p.V1679M|COL6A3_ENST00000347401.3_Missense_Mutation_p.V1684M|COL6A3_ENST00000472056.1_Missense_Mutation_p.V1278M|COL6A3_ENST00000409809.1_Missense_Mutation_p.V1679M	p.V1885M	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)	12	6105	-		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)	1885			Nonhelical region.|VWFA 10.		A8MT30|B4E3U5|B7ZMJ7|E9PFQ6|E9PGQ9|Q16501|Q53QF4|Q53QF6	Missense_Mutation	SNP	ENST00000295550.4	37	c.5653G>A	CCDS33412.1	.	.	.	.	.	.	.	.	.	.	C	9.371	1.070505	0.20147	.	.	ENSG00000163359	ENST00000295550;ENST00000347401;ENST00000353578;ENST00000472056;ENST00000409809;ENST00000346358	T;T;T;T;T;T	0.41065	1.01;1.01;1.01;1.01;1.01;1.01	5.34	5.34	0.76211	von Willebrand factor, type A (2);	0.277746	0.24705	N	0.036271	T	0.66906	0.2837	M	0.74258	2.255	0.53005	D	0.999963	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.77004	0.962;0.977;0.989	T	0.69011	-0.5258	10	0.66056	D	0.02	.	19.4237	0.94732	0.0:1.0:0.0:0.0	.	1278;1679;1885	E9PFQ6;P12111-2;P12111	.;.;CO6A3_HUMAN	M	1885;1684;1679;1278;1679;1685	ENSP00000295550:V1885M;ENSP00000315609:V1684M;ENSP00000315873:V1679M;ENSP00000418285:V1278M;ENSP00000386844:V1679M;ENSP00000295546:V1685M	ENSP00000295550:V1885M	V	-	1	0	COL6A3	237939265	0.996000	0.38824	0.960000	0.40013	0.029000	0.11900	3.423000	0.52756	2.665000	0.90641	0.655000	0.94253	GTG		0.612	COL6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315790.2	NM_004369		19	153	0	0	0	0.575678	0	19	153					T	238274526	C	T	238274526	3	4	35	1	0	0	0	0	1	0	0	0	3701	536	19	1	4012	1	COL6A3	2	238274526	Missense_Mutation	SNP	C	TCGA-CH-5769-01A-11D-1576-08	66411017	238274526	4924847	27	1764											
SETD5	55209	broad.mit.edu	37	chr3	9489431	9489431	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aaagccttctaggccccggcCgaagagtcgaatttctcggt	9	9	11	12	4	2	1	0	0	2	1	4	3	2	1	4	3	1	0	4	3	4	3			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr3:9489431C>T	ENST00000406341.1	+	14	2034	c.1844C>T	c.(1843-1845)cCg>cTg	p.P615L	SETD5_ENST00000302463.6_Missense_Mutation_p.P517L|SETD5_ENST00000402466.1_Missense_Mutation_p.P517L|SETD5_ENST00000407969.1_Missense_Mutation_p.P634L|SETD5_ENST00000488236.1_3'UTR|SETD5_ENST00000402198.1_Missense_Mutation_p.P615L			Q9C0A6	SETD5_HUMAN	SET domain containing 5	615										NS(2)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(3)|prostate(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.112)		AGGCCCCGGCCGAAGAGTCGA	0.507																																						ENST00000402466.1																			0				NS(2)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(3)|prostate(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						c.(1549-1551)cCg>cTg		SET domain containing 5							92	95	94					3																	9489431		1913	4127	6040	SO:0001583	missense	55209							g.chr3:9489431C>T	BC020956	CCDS46741.1, CCDS74892.1	3p25.3	2011-12-13			ENSG00000168137	ENSG00000168137			25566	protein-coding gene	gene with protein product		615743				11214970	Standard	XM_005265299		Approved	FLJ10707	uc003brt.3	Q9C0A6	OTTHUMG00000150491	ENST00000406341.1:c.1844C>T	3.37:g.9489431C>T	ENSP00000383939:p.Pro615Leu					SETD5_ENST00000302463.6_Missense_Mutation_p.P517L|SETD5_ENST00000402198.1_Missense_Mutation_p.P615L|SETD5_ENST00000406341.1_Missense_Mutation_p.P615L|SETD5_ENST00000488236.1_3'UTR|SETD5_ENST00000407969.1_Missense_Mutation_p.P634L	p.P517L			Q9C0A6	SETD5_HUMAN		OV - Ovarian serous cystadenocarcinoma(96;0.112)	16	2318	+	Medulloblastoma(99;0.227)		615					Q6AI17|Q8WUB6|Q9H3X4|Q9H6V7|Q9H7S3|Q9NVI9	Missense_Mutation	SNP	ENST00000406341.1	37	c.1550C>T	CCDS46741.1	.	.	.	.	.	.	.	.	.	.	C	26.9	4.781327	0.90282	.	.	ENSG00000168137	ENST00000402198;ENST00000402466;ENST00000406341;ENST00000407969;ENST00000302463	D;D;D;D;D	0.92647	-2.74;-3.08;-2.74;-2.73;-3.08	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	D	0.95262	0.8463	L	0.59436	1.845	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.997;0.997	D	0.93771	0.7075	10	0.34782	T	0.22	-7.9867	19.8199	0.96589	0.0:1.0:0.0:0.0	.	284;517;615;634	B3KXG4;Q9C0A6-3;Q9C0A6;E7EWN3	.;.;SETD5_HUMAN;.	L	615;517;615;634;517	ENSP00000385852:P615L;ENSP00000384429:P517L;ENSP00000383939:P615L;ENSP00000384114:P634L;ENSP00000302028:P517L	ENSP00000302028:P517L	P	+	2	0	SETD5	9464431	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.337000	0.79256	2.677000	0.91161	0.655000	0.94253	CCG		0.507	SETD5-001	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318425.1	XM_371614		5	298	0	0	0	0.248553	0	5	298					T	9489431	C	T	9489431	3	4	35	1	0	0	0	0	1	0	0	0	14134	652	23	2	1894	2	SETD5	3	9489431	Missense_Mutation	SNP	C	TCGA-CH-5769-01A-11D-1576-08		9489431	188532999	28	1765											
SETD5	55209	broad.mit.edu	37	chr3	9490139	9490139	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccctgttgagtgccctttacGtatcacaacggatccaactg	9	11	8	13	2	1	1	1	1	0	0	2	2	2	2	3	1	4	2	3	1	4	4			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr3:9490139G>A	ENST00000406341.1	+	15	2361	c.2171G>A	c.(2170-2172)cGt>cAt	p.R724H	SETD5_ENST00000302463.6_Missense_Mutation_p.R626H|SETD5_ENST00000402466.1_Missense_Mutation_p.R626H|SETD5_ENST00000407969.1_Missense_Mutation_p.R743H|SETD5_ENST00000488236.1_3'UTR|SETD5_ENST00000402198.1_Missense_Mutation_p.R724H			Q9C0A6	SETD5_HUMAN	SET domain containing 5	724										NS(2)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(3)|prostate(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.112)		TGCCCTTTACGTATCACAACG	0.418																																						ENST00000402466.1																			0				NS(2)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(3)|prostate(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						c.(1876-1878)cGt>cAt		SET domain containing 5							135	133	133					3																	9490139		1963	4162	6125	SO:0001583	missense	55209							g.chr3:9490139G>A	BC020956	CCDS46741.1, CCDS74892.1	3p25.3	2011-12-13			ENSG00000168137	ENSG00000168137			25566	protein-coding gene	gene with protein product		615743				11214970	Standard	XM_005265299		Approved	FLJ10707	uc003brt.3	Q9C0A6	OTTHUMG00000150491	ENST00000406341.1:c.2171G>A	3.37:g.9490139G>A	ENSP00000383939:p.Arg724His					SETD5_ENST00000302463.6_Missense_Mutation_p.R626H|SETD5_ENST00000402198.1_Missense_Mutation_p.R724H|SETD5_ENST00000406341.1_Missense_Mutation_p.R724H|SETD5_ENST00000488236.1_3'UTR|SETD5_ENST00000407969.1_Missense_Mutation_p.R743H	p.R626H			Q9C0A6	SETD5_HUMAN		OV - Ovarian serous cystadenocarcinoma(96;0.112)	17	2645	+	Medulloblastoma(99;0.227)		724					Q6AI17|Q8WUB6|Q9H3X4|Q9H6V7|Q9H7S3|Q9NVI9	Missense_Mutation	SNP	ENST00000406341.1	37	c.1877G>A	CCDS46741.1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.326157	0.81580	.	.	ENSG00000168137	ENST00000402198;ENST00000402466;ENST00000406341;ENST00000407969;ENST00000302463	D;D;D;D;D	0.94931	-3.23;-3.56;-3.23;-3.21;-3.56	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	D	0.97136	0.9064	M	0.69823	2.125	0.49299	D	0.999771	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.996;0.972;0.959	D	0.97297	0.9928	10	0.87932	D	0	-11.254	19.9759	0.97304	0.0:0.0:1.0:0.0	.	393;626;724;743	B3KXG4;Q9C0A6-3;Q9C0A6;E7EWN3	.;.;SETD5_HUMAN;.	H	724;626;724;743;626	ENSP00000385852:R724H;ENSP00000384429:R626H;ENSP00000383939:R724H;ENSP00000384114:R743H;ENSP00000302028:R626H	ENSP00000302028:R626H	R	+	2	0	SETD5	9465139	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	7.614000	0.82996	2.713000	0.92767	0.655000	0.94253	CGT		0.418	SETD5-001	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318425.1	XM_371614		4	92	0	0	0	0.150653	0	4	92					A	9490139	G	A	9490139	3	1	35	1	0	0	0	0	1	0	0	0	14134	1145	40	1	2225	1	SETD5	3	9490139	Missense_Mutation	SNP	G	TCGA-CH-5769-01A-11D-1576-08	708	9490139	188532291	29	1766											
C3orf23	285343	broad.mit.edu	37	chr3	44442728	44442728	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ccaagcttgcatgaactcggGcattttaatattccaacact	12	12	6	11	1	0	1	0	1	0	0	2	1	1	1	2	1	4	3	2	1	5	5			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr3:44442728G>T	ENST00000342649.4	+	10	1579	c.1152G>T	c.(1150-1152)ggG>ggT	p.G384G	TCAIM_ENST00000417237.1_Silent_p.G384G	NM_001282913.1|NM_173826.3	NP_001269842.1|NP_776187.2	Q8N3R3	TCAIM_HUMAN	T cell activation inhibitor, mitochondrial	384						mitochondrion (GO:0005739)											ATGAACTCGGGCATTTTAATA	0.413																																						ENST00000342649.4																			0											c.(1150-1152)ggG>ggT		T cell activation inhibitor, mitochondrial							146	139	141					3																	44442728		2203	4300	6503	SO:0001819	synonymous_variant	285343							g.chr3:44442728G>T		CCDS2712.1, CCDS43076.1	3p21.33-p21.32	2012-08-22	2012-08-22	2012-08-22	ENSG00000179152	ENSG00000179152			25241	protein-coding gene	gene with protein product	"tolerance associated gene-1"		"chromosome 3 open reading frame 23"	C3orf23		12477932	Standard	NM_001029840		Approved	DKFZp313N0621, TOAG-1	uc003cnd.4	Q8N3R3	OTTHUMG00000133049	ENST00000342649.4:c.1152G>T	3.37:g.44442728G>T						TCAIM_ENST00000417237.1_Silent_p.G384G	p.G384G	NM_173826.3	NP_776187.2					10	1579	+								A8K9P1|Q0P5T9|Q495R1|Q495R3|Q4G0M4|Q6GMU8	Silent	SNP	ENST00000342649.4	37	c.1152G>T	CCDS2712.1																																																																																				0.413	TCAIM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256655.2	NM_173826		8	167	1	0	1.12685e-05	0.307466	1.20817e-05	8	167					T	44442728	G	T	44442728	2	4	35	1	0	0	0	0	0	0	0	1	2216	1190	42	5		5	C3orf23	3	44442728	Silent	SNP	G	TCGA-CH-5769-01A-11D-1576-08	34952589	44442728	153579702	30	1767											
ALS2CL	259173	broad.mit.edu	37	chr3	46724745	46724745	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gagggctccaggccagccccCagcacggggaagtccttctt	7	6	13	15	1	1	0	0	0	1	0	3	2	3	1	5	4	2	2	5	4	1	2			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr3:46724745C>A	ENST00000318962.4	-	10	1067	c.984G>T	c.(982-984)ctG>ctT	p.L328L	ALS2CL_ENST00000415953.1_Silent_p.L328L	NM_147129.3	NP_667340.2	Q60I27	AL2CL_HUMAN	ALS2 C-terminal like	328					endosome organization (GO:0007032)|protein localization (GO:0008104)	cytoplasmic membrane-bounded vesicle (GO:0016023)	GTPase activator activity (GO:0005096)|identical protein binding (GO:0042802)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(3)|stomach(2)	29				BRCA - Breast invasive adenocarcinoma(193;0.000726)|KIRC - Kidney renal clear cell carcinoma(197;0.0171)|Kidney(197;0.0202)		GGCCAGCCCCCAGCACGGGGA	0.672																																						ENST00000318962.4																			0				NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(3)|stomach(2)	29						c.(982-984)ctG>ctT		ALS2 C-terminal like							17	21	19					3																	46724745		2203	4299	6502	SO:0001819	synonymous_variant	259173				endosome organization|regulation of Rho protein signal transduction		GTPase activator activity|identical protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr3:46724745C>A	AK074118	CCDS2743.1, CCDS43080.1	3p21.31	2008-01-30			ENSG00000178038	ENSG00000178038			20605	protein-coding gene	gene with protein product		612402				15388334, 8889548, 17239822	Standard	NM_147129		Approved	FLJ36525, RN49018, DKFZp686I0110	uc003cqb.2	Q60I27	OTTHUMG00000128673	ENST00000318962.4:c.984G>T	3.37:g.46724745C>A						ALS2CL_ENST00000415953.1_Silent_p.L328L	p.L328L	NM_147129.3	NP_667340.2	Q60I27	AL2CL_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000726)|KIRC - Kidney renal clear cell carcinoma(197;0.0171)|Kidney(197;0.0202)	10	1067	-			328					Q32MA1|Q6AI56|Q6ZNC5|Q6ZNC7|Q6ZTL4|Q86YD2|Q8N9U1|Q8NAL7	Silent	SNP	ENST00000318962.4	37	c.984G>T	CCDS2743.1																																																																																				0.672	ALS2CL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250567.3	NM_147129		3	22	1	0	0.004672	0.115264	0.0048833	3	22					A	46724745	C	A	46724745	2	1	35	1	0	0	0	0	0	0	0	1	551	581	21	5		5	ALS2CL	3	46724745	Silent	SNP	C	TCGA-CH-5769-01A-11D-1576-08	2282017	46724745	151297685	31	1768											
PTH1R	5745	broad.mit.edu	37	chr3	46945059	46945059	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aaggacgatgggttcctcaaCggctcctgctcaggcctgga	8	8	13	12	2	2	0	2	0	0	0	4	3	4	2	3	5	2	3	3	5	2	1			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr3:46945059C>T	ENST00000313049.5	+	14	1898	c.1695C>T	c.(1693-1695)aaC>aaT	p.N565N	PTH1R_ENST00000449590.1_Silent_p.N565N|PTH1R_ENST00000430002.2_Silent_p.N565N|PTH1R_ENST00000418619.1_Silent_p.N565N			Q03431	PTH1R_HUMAN	parathyroid hormone 1 receptor	565					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|aging (GO:0007568)|bone mineralization (GO:0030282)|bone resorption (GO:0045453)|cell maturation (GO:0048469)|chondrocyte differentiation (GO:0002062)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|negative regulation of cell proliferation (GO:0008285)|osteoblast development (GO:0002076)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of inositol phosphate biosynthetic process (GO:0060732)|skeletal system development (GO:0001501)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	parathyroid hormone receptor activity (GO:0004991)|peptide hormone binding (GO:0017046)|protein self-association (GO:0043621)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(5)|skin(2)|stomach(1)|urinary_tract(2)	19					Preotact(DB05829)|Teriparatide(DB06285)	GGTTCCTCAACGGCTCCTGCT	0.667																																						ENST00000313049.5																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(5)|skin(2)|stomach(1)|urinary_tract(2)	19						c.(1693-1695)aaC>aaT		parathyroid hormone 1 receptor							81	86	85					3																	46945059		2203	4300	6503	SO:0001819	synonymous_variant	5745					cytoplasm|integral to plasma membrane|nucleus	parathyroid hormone receptor activity|peptide hormone binding|protein self-association	g.chr3:46945059C>T		CCDS2747.1	3p22-p21.1	2012-08-10	2008-11-18	2008-11-18	ENSG00000160801	ENSG00000160801		"GPCR / Class B : Parathyroid hormone receptors"	9608	protein-coding gene	gene with protein product		168468	"parathyroid hormone receptor 1"	PTHR, PTHR1		8020952	Standard	NM_001184744		Approved		uc021wxg.1	Q03431	OTTHUMG00000133515	ENST00000313049.5:c.1695C>T	3.37:g.46945059C>T						PTH1R_ENST00000430002.2_Silent_p.N565N|PTH1R_ENST00000418619.1_Silent_p.N565N|PTH1R_ENST00000449590.1_Silent_p.N565N	p.N565N			Q03431	PTH1R_HUMAN			14	1898	+			565					Q2M1U3	Silent	SNP	ENST00000313049.5	37	c.1695C>T	CCDS2747.1																																																																																				0.667	PTH1R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257481.1	NM_000316		8	258	0	0	0	0.27861	0	8	258					T	46945059	C	T	46945059	2	4	35	1	0	0	0	0	0	0	0	1	12758	535	19	1		1	PTH1R	3	46945059	Silent	SNP	C	TCGA-CH-5769-01A-11D-1576-08	220314	46945059	151077371	32	1769											
MST1R	4486	broad.mit.edu	37	chr3	49940112	49940112	+	Frame_Shift_Del	DEL	C	C	-																															gggctgtccgccttctggggCcccccggcgcctgcgttttg																								rs201805638		TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr3:49940112delC	ENST00000296474.3	-	1	958	c.931delG	c.(931-933)gccfs	p.A311fs	CTD-2330K9.3_ENST00000419183.1_5'Flank|MST1R_ENST00000344206.4_Frame_Shift_Del_p.A311fs|CTD-2330K9.2_ENST00000435478.1_RNA	NM_002447.2	NP_002438	Q04912	RON_HUMAN	macrophage stimulating 1 receptor (c-met-related tyrosine kinase)	311	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				cellular component movement (GO:0006928)|defense response (GO:0006952)|innate immune response (GO:0045087)|macrophage colony-stimulating factor signaling pathway (GO:0038145)|multicellular organismal development (GO:0007275)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|response to virus (GO:0009615)|signal transduction (GO:0007165)|single fertilization (GO:0007338)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|macrophage colony-stimulating factor receptor activity (GO:0005011)			cervix(1)|endometrium(5)|large_intestine(3)|lung(17)|ovary(5)|prostate(2)|skin(1)|urinary_tract(3)	37				BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625)		CCTTCTGGGGCCCCCCGGCGC	0.667																																						ENST00000296474.3																			0				cervix(1)|endometrium(5)|large_intestine(3)|lung(17)|ovary(5)|prostate(2)|skin(1)|urinary_tract(3)	37						c.(931-933)ccfs		macrophage stimulating 1 receptor (c-met-related tyrosine kinase)							60	72	68					3																	49940112		2203	4300	6503	SO:0001589	frameshift_variant	4486				cellular component movement|defense response|multicellular organismal development|positive regulation of cell proliferation|single fertilization|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|macrophage colony-stimulating factor receptor activity|protein binding	g.chr3:49940112delC	X70040	CCDS2807.1, CCDS58833.1	3p21	2008-08-18			ENSG00000164078	ENSG00000164078		"CD molecules"	7381	protein-coding gene	gene with protein product		600168	"PTK8 protein tyrosine kinase 8"	RON, PTK8		8386824	Standard	NM_002447		Approved	CDw136, CD136	uc003cxy.4	Q04912	OTTHUMG00000156709	ENST00000296474.3:c.931delG	3.37:g.49940112delC	ENSP00000296474:p.Ala311fs					MST1R_ENST00000344206.4_Frame_Shift_Del_p.A311fs|CTD-2330K9.2_ENST00000435478.1_RNA	p.A311fs	NM_002447.2	NP_002438.2	Q04912	RON_HUMAN		BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625)	1	958	-			311			Sema.		B5A944|B5A945|B5A946|B5A947	Frame_Shift_Del	DEL	ENST00000296474.3	37	c.931delG	CCDS2807.1																																																																																				0.667	MST1R-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000345403.1			8	343						8	343	---	---	---	---	-	49940112	C	-	49940112	7	5	35	1	0	1	0	1	0	0	0	0	9891	739	26	0	3351	0	MST1R	3	49940112	Frame_Shift_Del	DEL	C	TCGA-CH-5769-01A-11D-1576-08	2995053	49940112	148082318	33	1770											
APPL1	26060	broad.mit.edu	37	chr3	57303570	57303570	+	Splice_Site	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttttgtcttttccactaggActtggaagaacaaagtcggt	10	15	9	7	1	1	1	0	0	1	1	3	3	2	3	1	3	1	0	1	3	4	6			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr3:57303570A>T	ENST00000288266.3	+	22	2132	c.1985A>T	c.(1984-1986)gAc>gTc	p.D662V	ASB14_ENST00000487349.1_3'UTR|ASB14_ENST00000389601.3_3'UTR	NM_012096.2	NP_036228.1	Q9UKG1	DP13A_HUMAN	adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 1	662					apoptotic process (GO:0006915)|cell cycle (GO:0007049)|cell proliferation (GO:0008283)|insulin receptor signaling pathway (GO:0008286)|positive regulation of apoptotic process (GO:0043065)|regulation of apoptotic process (GO:0042981)|regulation of establishment of protein localization to plasma membrane (GO:0090003)|regulation of glucose import (GO:0046324)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|vesicle membrane (GO:0012506)	identical protein binding (GO:0042802)|protein kinase B binding (GO:0043422)	p.D662V(1)		breast(3)|endometrium(3)|kidney(3)|large_intestine(10)|liver(2)|lung(4)|prostate(2)	27				KIRC - Kidney renal clear cell carcinoma(284;0.0124)|Kidney(284;0.0144)		TTCCACTAGGACTTGGAAGAA	0.423																																						ENST00000288266.3																			1	Substitution - Missense(1)	p.D662V(1)	prostate(1)	breast(3)|endometrium(3)|kidney(3)|large_intestine(10)|liver(2)|lung(4)|prostate(2)	27						c.e22-1		adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 1							93	89	90					3																	57303570		2203	4300	6503	SO:0001630	splice_region_variant	26060				apoptosis|cell cycle|cell proliferation|insulin receptor signaling pathway|regulation of apoptosis|regulation of establishment of protein localization in plasma membrane|regulation of glucose import	cytosol|early endosome membrane|microsome|nucleus|vesicle membrane	protein kinase B binding	g.chr3:57303570A>T	AB037849	CCDS2882.1	3p21.1-p14.3	2013-01-11			ENSG00000157500	ENSG00000157500		"Pleckstrin homology (PH) domain containing"	24035	protein-coding gene	gene with protein product		604299				10490823, 17030088	Standard	NM_012096		Approved	APPL	uc003dio.3	Q9UKG1	OTTHUMG00000133756	ENST00000288266.3:c.1984-1A>T	3.37:g.57303570A>T						ASB14_ENST00000389601.3_3'UTR|ASB14_ENST00000487349.1_3'UTR	p.D662_splice	NM_012096.2	NP_036228.1	Q9UKG1	DP13A_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0124)|Kidney(284;0.0144)	22	2132	+			662					Q9P2B9	Splice_Site	SNP	ENST00000288266.3	37	c.1983_splice	CCDS2882.1	.	.	.	.	.	.	.	.	.	.	A	19.51	3.841446	0.71488	.	.	ENSG00000157500	ENST00000288266	T	0.11821	2.74	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	T	0.28267	0.0698	L	0.32530	0.975	0.80722	D	1	D	0.71674	0.998	D	0.80764	0.994	T	0.01692	-1.1294	10	0.87932	D	0	.	16.1611	0.81712	1.0:0.0:0.0:0.0	.	662	Q9UKG1	DP13A_HUMAN	V	662	ENSP00000288266:D662V	ENSP00000288266:D662V	D	+	2	0	APPL1	57278610	1.000000	0.71417	1.000000	0.80357	0.885000	0.51271	8.873000	0.92357	2.272000	0.75746	0.460000	0.39030	GAC		0.423	APPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258196.2	NM_012096	Missense_Mutation	7	102	0	0	0	0.27861	0	7	102					T	57303570	A	T	57303570	5	4	35	1	0	0	0	0	0	0	1	0	817	289	10	5	2071	5	APPL1	3	57303570	Splice_Site	SNP	A	TCGA-CH-5769-01A-11D-1576-08	7363458	57303570	140718860	34	1771											
C3orf64	285203	broad.mit.edu	37	chr3	69047176	69047176	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acttacggtgtcccacatcaCgatgtacacgtcagtactga	11	10	8	12	3	2	1	2	1	0	0	3	2	3	1	1	1	3	2	1	1	3	3	rs551271959		TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr3:69047176C>T	ENST00000383701.3	-	10	1559	c.817G>A	c.(817-819)Gtg>Atg	p.V273M	EOGT_ENST00000295571.5_Missense_Mutation_p.V273M|EOGT_ENST00000540955.1_Intron|EOGT_ENST00000540764.1_Missense_Mutation_p.V172M	NM_001278689.1	NP_001265618.1	Q5NDL2	EOGT_HUMAN	EGF domain-specific O-linked N-acetylglucosamine (GlcNAc) transferase	273					protein O-linked glycosylation (GO:0006493)	endoplasmic reticulum (GO:0005783)	protein N-acetylglucosaminyltransferase activity (GO:0016262)										TCCCACATCACGATGTACACG	0.393																																						ENST00000383701.3																			0											c.(817-819)Gtg>Atg		EGF domain-specific O-linked N-acetylglucosamine (GlcNAc) transferase							162	137	146					3																	69047176		2203	4300	6503	SO:0001583	missense	285203							g.chr3:69047176C>T	AK091089	CCDS2908.1, CCDS63684.1	3p14.1	2013-10-11	2012-05-21	2012-05-21	ENSG00000163378	ENSG00000163378	2.4.1.255		28526	protein-coding gene	gene with protein product	"AER61 glycosyltransferase"	614789	"chromosome 3 open reading frame 64"	C3orf64		22310717	Standard	NM_001278689		Approved	AER61, FLJ33770	uc003dnk.3	Q5NDL2	OTTHUMG00000156279	ENST00000383701.3:c.817G>A	3.37:g.69047176C>T	ENSP00000373206:p.Val273Met					EOGT_ENST00000295571.5_Missense_Mutation_p.V273M|EOGT_ENST00000540955.1_Intron|EOGT_ENST00000540764.1_Missense_Mutation_p.V172M	p.V273M	NM_001278689.1	NP_001265618.1					10	1559	-								A8K2U1|B4DFH5|L7X1M5|Q6MZY0|Q6P985|Q6ZTV0	Missense_Mutation	SNP	ENST00000383701.3	37	c.817G>A		.	.	.	.	.	.	.	.	.	.	C	14.47	2.544526	0.45280	.	.	ENSG00000163378	ENST00000383701;ENST00000295571;ENST00000540764	T;T;T	0.08193	3.12;3.12;3.12	5.41	4.52	0.55395	.	0.188795	0.45126	D	0.000383	T	0.24198	0.0586	.	.	.	0.80722	D	1	D;D	0.76494	0.996;0.999	D;D	0.64687	0.921;0.928	T	0.00180	-1.1948	9	0.39692	T	0.17	.	15.1701	0.72865	0.0:0.9282:0.0:0.0718	.	273;273	Q5NDL2;Q5NDL2-3	AER61_HUMAN;.	M	273;273;172	ENSP00000373206:V273M;ENSP00000295571:V273M;ENSP00000443780:V172M	ENSP00000295571:V273M	V	-	1	0	C3orf64	69129866	1.000000	0.71417	0.988000	0.46212	0.248000	0.25809	3.813000	0.55636	2.710000	0.92621	0.591000	0.81541	GTG		0.393	EOGT-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000343722.1	NM_173654		5	120	0	0	0	0.184627	0	5	120					T	69047176	C	T	69047176	3	4	35	1	0	0	0	0	1	0	0	0	2240	536	19	1	538	1	C3orf64	3	69047176	Missense_Mutation	SNP	C	TCGA-CH-5769-01A-11D-1576-08	11743606	69047176	128975254	35	1772											
MYH15	22989	broad.mit.edu	37	chr3	108229289	108229289	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	agcaaccaccacatgtctcaCcatccaaggctgtggcctgt	10	8	8	15	0	1	0	1	0	1	0	3	0	2	0	5	2	2	2	5	2	2	0			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr3:108229289C>T	ENST00000273353.3	-	2	205		c.e2+1			NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN	myosin, heavy chain 15							cytoplasm (GO:0005737)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						ACATGTCTCACCATCCAAGGC	0.463																																						ENST00000273353.3																			0				NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						c.e2+1		myosin, heavy chain 15							87	88	87					3																	108229289		1958	4155	6113	SO:0001630	splice_region_variant	22989					myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity	g.chr3:108229289C>T	AB023217	CCDS43127.1	3q13	2011-09-27	2006-09-29		ENSG00000144821	ENSG00000144821		"Myosins / Myosin superfamily : Class II"	31073	protein-coding gene	gene with protein product		609929	"myosin, heavy polypeptide 15"			15014174, 15042088	Standard	NM_014981		Approved	KIAA1000	uc003dxa.1	Q9Y2K3	OTTHUMG00000159226	ENST00000273353.3:c.148+1G>A	3.37:g.108229289C>T								NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN			2	205	-									Splice_Site	SNP	ENST00000273353.3	37		CCDS43127.1	.	.	.	.	.	.	.	.	.	.	C	12.88	2.070447	0.36566	.	.	ENSG00000144821	ENST00000273353	.	.	.	4.53	2.71	0.32032	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.2387	0.37481	0.0:0.7693:0.148:0.0827	.	.	.	.	.	-1	.	.	.	-	.	.	MYH15	109711979	1.000000	0.71417	0.840000	0.33206	0.052000	0.14988	2.908000	0.48750	0.820000	0.34516	0.467000	0.42956	.		0.463	MYH15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353935.1	XM_036988	Intron	4	104	0	0	0	0.150653	0	4	104					T	108229289	C	T	108229289	5	4	35	1	0	0	0	0	0	0	1	0	10034	521	18	3	5855	3	MYH15	3	108229289	Splice_Site	SNP	C	TCGA-CH-5769-01A-11D-1576-08	39182113	108229289	89793141	36	1773											
TIPARP	25976	broad.mit.edu	37	chr3	156395883	156395883	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cttccactgaagctccagaaCgagtggttccaatccaagat	12	9	8	12	1	0	3	0	1	0	2	4	4	4	3	4	1	2	2	4	1	4	2	rs569197742		TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr3:156395883C>T	ENST00000461166.1	+	2	985	c.397C>T	c.(397-399)Cga>Tga	p.R133*	TIPARP_ENST00000486483.1_Nonsense_Mutation_p.R133*|TIPARP_ENST00000295924.7_Nonsense_Mutation_p.R133*|TIPARP_ENST00000542783.1_Nonsense_Mutation_p.R133*	NM_001184717.1	NP_001171646.1	Q7Z3E1	PARPT_HUMAN	TCDD-inducible poly(ADP-ribose) polymerase	133					androgen metabolic process (GO:0008209)|cellular response to organic cyclic compound (GO:0071407)|estrogen metabolic process (GO:0008210)|face morphogenesis (GO:0060325)|female gonad development (GO:0008585)|hemopoiesis (GO:0030097)|kidney development (GO:0001822)|multicellular organismal metabolic process (GO:0044236)|negative regulation of gene expression (GO:0010629)|nitrogen compound metabolic process (GO:0006807)|palate development (GO:0060021)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of protein catabolic process (GO:0045732)|post-embryonic development (GO:0009791)|protein ADP-ribosylation (GO:0006471)|skeletal system morphogenesis (GO:0048705)|smooth muscle tissue development (GO:0048745)|vasculogenesis (GO:0001570)	nucleus (GO:0005634)	enhancer binding (GO:0035326)|metal ion binding (GO:0046872)|NAD+ ADP-ribosyltransferase activity (GO:0003950)	p.R133*(1)		NS(1)|breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	23			LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)			AGCTCCAGAACGAGTGGTTCC	0.498																																					Ovarian(171;276 1987 3319 6837 11197)	ENST00000461166.1																			1	Substitution - Nonsense(1)	p.R133*(1)	large_intestine(1)	NS(1)|breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	23						c.(397-399)Cga>Tga		TCDD-inducible poly(ADP-ribose) polymerase							101	102	102					3																	156395883		2203	4300	6503	SO:0001587	stop_gained	25976						NAD+ ADP-ribosyltransferase activity|nucleic acid binding|protein binding|zinc ion binding	g.chr3:156395883C>T	BX537965	CCDS3177.1	3q25.31	2011-06-22			ENSG00000163659	ENSG00000163659		"Poly (ADP-ribose) polymerases"	23696	protein-coding gene	gene with protein product		612480				12851707	Standard	NM_001184717		Approved	DKFZP434J214, DKFZp686N0351, DDF1, PARP7, PARP-7, PARP-1, pART14, RM1	uc021xgg.1	Q7Z3E1	OTTHUMG00000158646	ENST00000461166.1:c.397C>T	3.37:g.156395883C>T	ENSP00000420612:p.Arg133*					TIPARP_ENST00000542783.1_Nonsense_Mutation_p.R133*|TIPARP_ENST00000486483.1_Nonsense_Mutation_p.R133*|TIPARP_ENST00000295924.7_Nonsense_Mutation_p.R133*	p.R133*	NM_001184717.1	NP_001171646.1	Q7Z3E1	PARPT_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)		2	985	+			133					D3DNK6|Q68CY9|Q86VP4|Q9Y4P7	Nonsense_Mutation	SNP	ENST00000461166.1	37	c.397C>T	CCDS3177.1	.	.	.	.	.	.	.	.	.	.	C	41	8.889236	0.98992	.	.	ENSG00000163659	ENST00000486483;ENST00000295924;ENST00000461166;ENST00000473702;ENST00000481853;ENST00000542783	.	.	.	5.11	4.22	0.49857	.	0.501234	0.20537	N	0.090395	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.23302	T	0.38	.	14.5068	0.67758	0.1481:0.8519:0.0:0.0	.	.	.	.	X	133	.	ENSP00000295924:R133X	R	+	1	2	TIPARP	157878577	1.000000	0.71417	0.951000	0.38953	0.819000	0.46315	4.550000	0.60733	1.136000	0.42199	0.563000	0.77884	CGA		0.498	TIPARP-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351618.1	NM_015508		4	158	0	0	0	0.150653	0	4	158					T	156395883	C	T	156395883	4	4	35	1	0	0	0	0	0	1	0	0	15921	528	19	1	399	1	TIPARP	3	156395883	Nonsense_Mutation	SNP	C	TCGA-CH-5769-01A-11D-1576-08	48166594	156395883	41626547	37	1774											
PLD1	5337	broad.mit.edu	37	chr3	171427351	171427351	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagagaaataataacttaccAtttagctaaagcattctctt	16	14	4	7	0	1	1	0	0	1	1	2	2	1	1	1	0	4	2	1	0	8	9			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr3:171427351A>G	ENST00000351298.4	-	10	1186	c.1060T>C	c.(1060-1062)Tgg>Cgg	p.W354R	PLD1_ENST00000356327.5_Splice_Site_p.W354R|PLD1_ENST00000342215.6_Splice_Site_p.W354R|PLD1_ENST00000340989.4_Splice_Site_p.W354R	NM_002662.4	NP_002653.1	Q13393	PLD1_HUMAN	phospholipase D1, phosphatidylcholine-specific	354					chemotaxis (GO:0006935)|defense response to Gram-positive bacterium (GO:0050830)|glycerophospholipid biosynthetic process (GO:0046474)|lipid catabolic process (GO:0016042)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylglycerol biosynthetic process (GO:0006655)|phospholipid metabolic process (GO:0006644)|Ras protein signal transduction (GO:0007265)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	N-acylphosphatidylethanolamine-specific phospholipase D activity (GO:0070290)|phosphatidylinositol binding (GO:0035091)|phospholipase D activity (GO:0004630)	p.W354R(1)		breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|lung(27)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	63	all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		Choline(DB00122)	ATAACTTACCATTTAGCTAAA	0.378																																					NSCLC(149;2174 3517 34058)	ENST00000356327.5																			1	Substitution - Missense(1)	p.W354R(1)	prostate(1)	breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|lung(27)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	63						c.e10+1		phospholipase D1, phosphatidylcholine-specific	Choline(DB00122)						136	126	129					3																	171427351		2203	4300	6503	SO:0001630	splice_region_variant	5337				cell communication|chemotaxis|Ras protein signal transduction	endoplasmic reticulum membrane|Golgi membrane|late endosome membrane|perinuclear region of cytoplasm	NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity	g.chr3:171427351A>G	U38545	CCDS3216.1, CCDS46957.1	3q26	2013-01-10	2006-02-17		ENSG00000075651	ENSG00000075651	3.1.4.4	"Pleckstrin homology (PH) domain containing"	9067	protein-coding gene	gene with protein product	"choline phosphatase 1"	602382				9858822, 8530346	Standard	NM_002662		Approved		uc003fhs.3	Q13393	OTTHUMG00000156947	ENST00000351298.4:c.1061+1T>C	3.37:g.171427351A>G						PLD1_ENST00000342215.6_Splice_Site_p.W354_splice|PLD1_ENST00000351298.4_Splice_Site_p.W354_splice|PLD1_ENST00000340989.4_Splice_Site_p.W354_splice	p.W354_splice	NM_001130081.2	NP_001123553.1	Q13393	PLD1_HUMAN	LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		10	1130	-	all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186)		354						Splice_Site	SNP	ENST00000351298.4	37	c.1061_splice	CCDS3216.1	.	.	.	.	.	.	.	.	.	.	A	17.56	3.420851	0.62622	.	.	ENSG00000075651	ENST00000356327;ENST00000351298;ENST00000342215;ENST00000340989	T;T;T;T	0.22945	1.93;1.93;1.93;1.93	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	T	0.61714	0.2369	M	0.93854	3.465	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.87578	0.989;0.998	T	0.72950	-0.4136	10	0.87932	D	0	-10.796	14.5911	0.68365	1.0:0.0:0.0:0.0	.	377;354	Q59EA4;Q13393	.;PLD1_HUMAN	R	354	ENSP00000348681:W354R;ENSP00000342793:W354R;ENSP00000339936:W354R;ENSP00000340326:W354R	ENSP00000340326:W354R	W	-	1	0	PLD1	172910045	1.000000	0.71417	1.000000	0.80357	0.447000	0.32167	8.587000	0.90810	2.080000	0.62538	0.460000	0.39030	TGG		0.378	PLD1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000346730.2	NM_002662	Missense_Mutation	10	106	0	0	0	0.38729	0	10	106					G	171427351	A	G	171427351	5	3	35	1	0	0	0	0	0	0	1	0	12045	231	8	4	2236	4	PLD1	3	171427351	Splice_Site	SNP	A	TCGA-CH-5769-01A-11D-1576-08	15031468	171427351	26595079	38	1775											
EIF4G1	1981	broad.mit.edu	37	chr3	184039641	184039641	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccagtcagtgagccagaggaGcaggccaaggaggtgacagc	12	3	16	10	0	1	3	1	2	0	1	1	5	1	5	3	4	3	1	3	4	1	0			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr3:184039641G>A	ENST00000346169.2	+	10	1540	c.1269G>A	c.(1267-1269)gaG>gaA	p.E423E	EIF4G1_ENST00000424196.1_Silent_p.E430E|EIF4G1_ENST00000392537.2_Silent_p.E336E|EIF4G1_ENST00000441154.1_Silent_p.E259E|EIF4G1_ENST00000435046.2_Silent_p.E227E|EIF4G1_ENST00000382330.3_Silent_p.E430E|EIF4G1_ENST00000434061.2_Silent_p.E227E|EIF4G1_ENST00000319274.6_Silent_p.E423E|EIF4G1_ENST00000342981.4_Silent_p.E423E|EIF4G1_ENST00000427845.1_Silent_p.E336E|EIF4G1_ENST00000350481.5_Silent_p.E259E|EIF4G1_ENST00000414031.1_Silent_p.E383E|EIF4G1_ENST00000411531.1_Silent_p.E383E|EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000352767.3_Silent_p.E430E	NM_198241.2	NP_937884	Q04637	IF4G1_HUMAN	eukaryotic translation initiation factor 4 gamma, 1	423					cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|cytokine-mediated signaling pathway (GO:0019221)|gene expression (GO:0010467)|insulin receptor signaling pathway (GO:0008286)|lung development (GO:0030324)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|regulation of translational initiation (GO:0006446)|response to ethanol (GO:0045471)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational initiation (GO:0006413)|viral process (GO:0016032)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	75	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			AGCCAGAGGAGCAGGCCAAGG	0.617																																						ENST00000342981.4																			0				central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	75						c.(1267-1269)gaG>gaA		eukaryotic translation initiation factor 4 gamma, 1							141	147	145					3																	184039641		2203	4300	6503	SO:0001819	synonymous_variant	1981				insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity	g.chr3:184039641G>A	D12686	CCDS3259.1, CCDS3260.1, CCDS3261.1, CCDS46970.1, CCDS46970.2, CCDS54687.1, CCDS54688.1	3q27.1	2013-09-19			ENSG00000114867	ENSG00000114867		"Parkinson disease"	3296	protein-coding gene	gene with protein product		600495		EIF4G, EIF4F		1429670, 9372926, 21907011	Standard	NM_182917		Approved	p220, PARK18	uc010hxy.3	Q04637	OTTHUMG00000156784	ENST00000346169.2:c.1269G>A	3.37:g.184039641G>A						EIF4G1_ENST00000435046.2_Silent_p.E227E|EIF4G1_ENST00000427845.1_Silent_p.E336E|EIF4G1_ENST00000352767.3_Silent_p.E430E|EIF4G1_ENST00000319274.6_Silent_p.E423E|EIF4G1_ENST00000441154.1_Silent_p.E259E|EIF4G1_ENST00000350481.5_Silent_p.E259E|EIF4G1_ENST00000434061.2_Silent_p.E227E|EIF4G1_ENST00000414031.1_Silent_p.E383E|EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000411531.1_Silent_p.E383E|EIF4G1_ENST00000382330.3_Silent_p.E430E|EIF4G1_ENST00000346169.2_Silent_p.E423E|EIF4G1_ENST00000424196.1_Silent_p.E430E|EIF4G1_ENST00000392537.2_Silent_p.E336E	p.E423E	NM_182917.4	NP_886553.3	Q04637	IF4G1_HUMAN	Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		9	1683	+	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		423					D3DNT2|D3DNT4|D3DNT5|E9PFM1|G5E9S1|O43177|O95066|Q5HYG0|Q6ZN21|Q8N102	Silent	SNP	ENST00000346169.2	37	c.1269G>A	CCDS3259.1																																																																																				0.617	EIF4G1-007	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000345733.1	NM_182917		6	269	0	0	0	0.248553	0	6	269					A	184039641	G	A	184039641	2	1	35	1	0	0	0	0	0	0	0	1	5036	962	34	3		3	EIF4G1	3	184039641	Silent	SNP	G	TCGA-CH-5769-01A-11D-1576-08	12612290	184039641	13982789	39	1776											
ST6GAL1	6480	broad.mit.edu	37	chr3	186793469	186793469	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tcgatagtgcctgcacgatgGgtgcctaccacccgctgctc	6	9	11	15	3	0	0	0	0	0	0	2	2	0	0	4	1	5	3	4	1	2	2			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr3:186793469G>T	ENST00000169298.3	+	8	1773	c.1099G>T	c.(1099-1101)Ggt>Tgt	p.G367C	ST6GAL1_ENST00000457772.2_Missense_Mutation_p.G136C|ST6GAL1_ENST00000448044.1_Missense_Mutation_p.G367C	NM_173216.2	NP_775323.1	P15907	SIAT1_HUMAN	ST6 beta-galactosamide alpha-2,6-sialyltranferase 1	367					cellular protein metabolic process (GO:0044267)|humoral immune response (GO:0006959)|N-acetylneuraminate metabolic process (GO:0006054)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|sialylation (GO:0097503)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)	beta-galactoside alpha-2,6-sialyltransferase activity (GO:0003835)|sialyltransferase activity (GO:0008373)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	7	all_cancers(143;2.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;8.53e-19)	GBM - Glioblastoma multiforme(93;0.0939)		CTGCACGATGGGTGCCTACCA	0.517																																						ENST00000169298.3																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	7						c.(1099-1101)Ggt>Tgt		ST6 beta-galactosamide alpha-2,6-sialyltranferase 1							118	102	107					3																	186793469		2203	4300	6503	SO:0001583	missense	6480				humoral immune response|post-translational protein modification|protein N-linked glycosylation via asparagine	extracellular region|Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,6-sialyltransferase activity	g.chr3:186793469G>T	X62822	CCDS3285.1, CCDS46973.1	3q27-q28	2013-02-26	2003-01-14	2005-02-07	ENSG00000073849	ENSG00000073849	2.4.99.1		10860	protein-coding gene	gene with protein product	"ST6Gal I"	109675	"sialyltransferase 1 (beta-galactoside alpha-2,6-sialytransferase)"	SIAT1		2408023	Standard	NM_003032		Approved		uc003frd.3	P15907	OTTHUMG00000156500	ENST00000169298.3:c.1099G>T	3.37:g.186793469G>T	ENSP00000169298:p.Gly367Cys					ST6GAL1_ENST00000457772.2_Missense_Mutation_p.G136C|ST6GAL1_ENST00000448044.1_Missense_Mutation_p.G367C	p.G367C	NM_173216.2	NP_775323.1	P15907	SIAT1_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;8.53e-19)	GBM - Glioblastoma multiforme(93;0.0939)	8	1773	+	all_cancers(143;2.33e-12)|Ovarian(172;0.0339)		367					A8KA14|B2R513|D3DNV3	Missense_Mutation	SNP	ENST00000169298.3	37	c.1099G>T	CCDS3285.1	.	.	.	.	.	.	.	.	.	.	G	26.1	4.705674	0.89018	.	.	ENSG00000073849	ENST00000169298;ENST00000457772;ENST00000448044	T;T;T	0.31247	1.5;1.5;1.5	5.74	5.74	0.90152	.	0.000000	0.85682	D	0.000000	T	0.67363	0.2885	M	0.93420	3.415	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.75274	-0.3375	10	0.87932	D	0	-25.8397	17.8009	0.88586	0.0:0.0:1.0:0.0	.	367	P15907	SIAT1_HUMAN	C	367;136;367	ENSP00000169298:G367C;ENSP00000412221:G136C;ENSP00000389337:G367C	ENSP00000169298:G367C	G	+	1	0	ST6GAL1	188276163	1.000000	0.71417	1.000000	0.80357	0.583000	0.36354	9.796000	0.99103	2.884000	0.98904	0.655000	0.94253	GGT		0.517	ST6GAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344399.1	NM_173216		5	65	1	0	0.0215528	0.217242	0.0220836	5	65					T	186793469	G	T	186793469	3	4	35	1	0	0	0	0	1	0	0	0	15220	1232	43	5	1117	5	ST6GAL1	3	186793469	Missense_Mutation	SNP	G	TCGA-CH-5769-01A-11D-1576-08	2753828	186793469	11228961	40	1777											
MFSD7	84179	broad.mit.edu	37	chr4	680048	680048	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caaccatgcagggcaccatgCgtagcacactcccggcaaag	12	4	10	15	2	0	0	0	0	0	0	1	0	1	0	3	2	4	5	3	2	3	1	rs138706049		TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr4:680048C>T	ENST00000404286.2	-	3	353	c.338G>A	c.(337-339)cGc>cAc	p.R113H	MFSD7_ENST00000515118.1_Intron|MFSD7_ENST00000503156.1_Missense_Mutation_p.R49H|MFSD7_ENST00000513740.1_Intron|MFSD7_ENST00000347950.5_Intron|MFSD7_ENST00000322224.4_Missense_Mutation_p.R113H	NM_032219.2	NP_115595.2	Q6UXD7	MFSD7_HUMAN	major facilitator superfamily domain containing 7	113					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)		p.R113H(1)		cervix(1)|kidney(2)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	11						GGGCACCATGCGTAGCACACT	0.627																																						ENST00000322224.4																			1	Substitution - Missense(1)	p.R113H(1)	prostate(1)	cervix(1)|kidney(2)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	11						c.(337-339)cGc>cAc		major facilitator superfamily domain containing 7		C	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	71	68	69		338	4.6	0	4	dbSNP_134	69	0,8600		0,0,4300	no	missense	MFSD7	NM_032219.2	29	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	113/560	680048	1,13005	2203	4300	6503	SO:0001583	missense	84179				transmembrane transport	integral to membrane		g.chr4:680048C>T	AK025922	CCDS3338.1, CCDS75086.1	4p16.3	2013-05-22			ENSG00000169026	ENSG00000169026		"Solute carriers"	26177	protein-coding gene	gene with protein product						12975309	Standard	XM_005272295		Approved	FLJ22269, LP2561	uc003gax.3	Q6UXD7	OTTHUMG00000119001	ENST00000404286.2:c.338G>A	4.37:g.680048C>T	ENSP00000384616:p.Arg113His					MFSD7_ENST00000503156.1_Missense_Mutation_p.R49H|MFSD7_ENST00000515118.1_Intron|MFSD7_ENST00000347950.5_Intron|MFSD7_ENST00000513740.1_Intron|MFSD7_ENST00000404286.2_Missense_Mutation_p.R113H	p.R113H			Q6UXD7	MFSD7_HUMAN			3	651	-			113					A8K7J5|Q6XYD4|Q8N6H1|Q9H6H6	Missense_Mutation	SNP	ENST00000404286.2	37	c.338G>A		.	.	.	.	.	.	.	.	.	.	C	17.37	3.373063	0.61624	2.27E-4	0.0	ENSG00000169026	ENST00000322224;ENST00000404286;ENST00000503156;ENST00000507165	T;T;T;T	0.57595	0.39;0.39;0.39;0.39	4.63	4.63	0.57726	Major facilitator superfamily domain, general substrate transporter (1);	0.061375	0.64402	D	0.000003	T	0.75961	0.3921	M	0.90309	3.105	0.09310	N	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.997	T	0.70121	-0.4959	10	0.87932	D	0	-23.1901	12.8677	0.57948	0.0:1.0:0.0:0.0	.	49;113;113	D6RIZ6;Q6UXD7;Q6UXD7-2	.;MFSD7_HUMAN;.	H	113;113;49;49	ENSP00000320234:R113H;ENSP00000384616:R113H;ENSP00000425753:R49H;ENSP00000424556:R49H	ENSP00000320234:R113H	R	-	2	0	MFSD7	670048	0.101000	0.21875	0.010000	0.14722	0.016000	0.09150	1.835000	0.39181	2.420000	0.82092	0.561000	0.74099	CGC		0.627	MFSD7-004	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000358585.1	NM_032219		8	80	0	0	0	0.307466	0	8	80					T	680048	C	T	680048	3	4	35	1	0	0	0	0	1	0	0	0	9537	768	27	1	1373	1	MFSD7	4	680048	Missense_Mutation	SNP	C	TCGA-CH-5769-01A-11D-1576-08		680048	190474228	41	1778											
BOD1L	259282	broad.mit.edu	37	chr4	13604158	13604158	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcttcttttatgcttaagttTgacagtttcagcatattttt	8	21	6	6	0	2	1	1	1	1	0	2	1	2	1	0	0	2	5	0	0	3	9			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr4:13604158T>C	ENST00000040738.5	-	10	4501	c.4366A>G	c.(4366-4368)Aaa>Gaa	p.K1456E		NM_148894.2	NP_683692.2	Q8NFC6	BD1L1_HUMAN	biorientation of chromosomes in cell division 1-like 1	1456						nucleus (GO:0005634)	DNA binding (GO:0003677)	p.K1456E(1)									TGCTTAAGTTTGACAGTTTCA	0.383																																						ENST00000040738.5																			1	Substitution - Missense(1)	p.K1456E(1)	prostate(1)								c.(4366-4368)Aaa>Gaa		biorientation of chromosomes in cell division 1-like 1							91	78	83					4																	13604158		2203	4300	6503	SO:0001583	missense	259282						DNA binding	g.chr4:13604158T>C	AF528529	CCDS3411.2	4p16.1	2012-04-10	2012-04-10	2012-04-10	ENSG00000038219	ENSG00000038219			31792	protein-coding gene	gene with protein product			"family with sequence similarity 44, member A", "biorientation of chromosomes in cell division 1-like"	FAM44A, BOD1L			Standard	XM_005248150		Approved	FLJ33215, KIAA1327	uc003gmz.1	Q8NFC6	OTTHUMG00000090659	ENST00000040738.5:c.4366A>G	4.37:g.13604158T>C	ENSP00000040738:p.Lys1456Glu						p.K1456E	NM_148894.2	NP_683692.2	Q8NFC6	BOD1L_HUMAN			10	4501	-			1456					Q6P0M8|Q96AL1|Q9H6G0|Q9NTD6|Q9P2L9	Missense_Mutation	SNP	ENST00000040738.5	37	c.4366A>G	CCDS3411.2	.	.	.	.	.	.	.	.	.	.	T	0.089	-1.171052	0.01660	.	.	ENSG00000038219	ENST00000040738	T	0.06142	3.34	5.37	0.291	0.15732	.	1.235580	0.05810	N	0.613862	T	0.01905	0.0060	N	0.01874	-0.695	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.40979	-0.9534	10	0.02654	T	1	-0.4281	1.8741	0.03214	0.1235:0.2333:0.3626:0.2807	.	1456	Q8NFC6	BOD1L_HUMAN	E	1456	ENSP00000040738:K1456E	ENSP00000040738:K1456E	K	-	1	0	BOD1L	13213256	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.463000	0.06696	-0.317000	0.08677	-1.367000	0.01198	AAA		0.383	BOD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207321.1	NM_148894		11	62	0	0	0	0.361761	0	11	62					C	13604158	T	C	13604158	3	2	35	1	0	0	0	0	1	0	0	0	1483	1821	63	4	4857	4	BOD1L	4	13604158	Missense_Mutation	SNP	T	TCGA-CH-5769-01A-11D-1576-08	12924110	13604158	177550118	42	1779											
GABRA4	2557	broad.mit.edu	37	chr4	46930324	46930324	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgttaaatgccccaaatgtgActggaaagagaatacgggca	15	8	11	7	1	0	2	0	1	0	1	0	4	0	3	2	2	2	2	2	2	6	2			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr4:46930324A>G	ENST00000264318.3	-	9	2565	c.1583T>C	c.(1582-1584)gTc>gCc	p.V528A		NM_000809.3|NM_001204266.1|NM_001204267.1	NP_000800.2|NP_001191195.1|NP_001191196.1	P48169	GBRA4_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 4	528					central nervous system development (GO:0007417)|gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|regulation of response to drug (GO:2001023)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	benzodiazepine receptor activity (GO:0008503)|chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45					Acamprosate(DB00659)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)	CCCAAATGTGACTGGAAAGAG	0.408																																					Ovarian(6;283 369 8234 12290 33402)	ENST00000264318.3																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						c.(1582-1584)gTc>gCc		gamma-aminobutyric acid (GABA) A receptor, alpha 4	Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)						93	94	93					4																	46930324		2203	4300	6503	SO:0001583	missense	2557				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chr4:46930324A>G		CCDS3473.1	4p12	2012-06-22			ENSG00000109158	ENSG00000109158		"GABA receptors", "Ligand-gated ion channels / GABA(A) receptors"	4078	protein-coding gene	gene with protein product	"GABA(A) receptor, alpha 4"	137141				7607683	Standard	NM_000809		Approved		uc021xnz.1	P48169	OTTHUMG00000099431	ENST00000264318.3:c.1583T>C	4.37:g.46930324A>G	ENSP00000264318:p.Val528Ala						p.V528A	NM_000809.3|NM_001204266.1|NM_001204267.1	NP_000800.2|NP_001191195.1|NP_001191196.1	P48169	GBRA4_HUMAN			9	2565	-			528					Q8IYR7	Missense_Mutation	SNP	ENST00000264318.3	37	c.1583T>C	CCDS3473.1	.	.	.	.	.	.	.	.	.	.	A	32	5.161134	0.94727	.	.	ENSG00000109158	ENST00000264318	D	0.86562	-2.14	5.82	5.82	0.92795	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.000000	0.85682	D	0.000000	D	0.89866	0.6839	L	0.43152	1.355	0.46927	D	0.999256	D	0.58268	0.982	P	0.60949	0.881	D	0.90595	0.4540	10	0.62326	D	0.03	.	15.3777	0.74625	1.0:0.0:0.0:0.0	.	528	P48169	GBRA4_HUMAN	A	528	ENSP00000264318:V528A	ENSP00000264318:V528A	V	-	2	0	GABRA4	46625081	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.233000	0.95337	2.232000	0.73038	0.528000	0.53228	GTC		0.408	GABRA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216893.1			8	188	0	0	0	0.27861	0	8	188					G	46930324	A	G	46930324	3	3	35	1	0	0	0	0	1	0	0	0	6163	275	10	4	85	4	GABRA4	4	46930324	Missense_Mutation	SNP	A	TCGA-CH-5769-01A-11D-1576-08	33326166	46930324	144223952	43	1780											
ENAM	10117	broad.mit.edu	37	chr4	71509665	71509666	+	Frame_Shift_Ins	INS	-	-	AG																															ataactaggatgaattctccINSagagagagaacattcatctt																										TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr4:71509665_71509666insAG	ENST00000396073.3	+	9	2803_2804	c.2522_2523insAG	c.(2521-2526)ccagagfs	p.PE841fs	ENAM_ENST00000472903.1_Intron	NM_031889.2	NP_114095.2	Q9NRM1	ENAM_HUMAN	enamelin	841					amelogenesis (GO:0097186)|biomineral tissue development (GO:0031214)	proteinaceous extracellular matrix (GO:0005578)				haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2)	6			Lung(101;0.235)			ATGAATTCTCCAGAGAGAGAAC	0.421																																						ENST00000396073.3																			0				haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2)	6						c.(2521-2523)cgafs		enamelin																																				SO:0001589	frameshift_variant	10117				bone mineralization|odontogenesis	proteinaceous extracellular matrix	structural constituent of tooth enamel	g.chr4:71509665_71509666insAG	AF125373	CCDS3544.2	4q13.3	2008-02-05			ENSG00000132464	ENSG00000132464			3344	protein-coding gene	gene with protein product		606585	"amelogenesis imperfecta 2, hypocalcification (autosomal dominant)"	AIH2		11978766	Standard	NM_031889		Approved		uc011caw.1	Q9NRM1	OTTHUMG00000129914	ENST00000396073.3:c.2529_2530dupAG	4.37:g.71509672_71509673dupAG	ENSP00000379383:p.Pro841fs					ENAM_ENST00000472903.1_Intron	p.R841fs	NM_031889.2	NP_114095.2	Q9NRM1	ENAM_HUMAN	Lung(101;0.235)		9	2803_2804	+			841					Q17RI5|Q9H3D1	Frame_Shift_Ins	INS	ENST00000396073.3	37	c.2522_2523insAG	CCDS3544.2																																																																																				0.421	ENAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252166.3	NM_031889		15	145						15	145	---	---	---	---	AG	71509666	-	AG	71509665	7	5	35	1	0	1	1	0	0	0	0	0	5112	594	21	0	2552	0	ENAM	4	71509665	Frame_Shift_Ins	INS	-	TCGA-CH-5769-01A-11D-1576-08	24579341	71509665	119644611	44	1781											
TIGD2	166815	broad.mit.edu	37	chr4	90034328	90034328	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	taccagtggagtatccaaacGtaaatctatgaagtcatcaa	16	10	7	8	1	3	1	2	1	1	0	4	2	4	2	2	1	2	2	2	1	8	4			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr4:90034328G>A	ENST00000317005.2	+	1	361	c.203G>A	c.(202-204)cGt>cAt	p.R68H	FAM13A_ENST00000502459.1_5'Flank|RP11-84C13.1_ENST00000603357.1_lincRNA	NM_145715.2	NP_663761.1	Q4W5G0	TIGD2_HUMAN	tigger transposable element derived 2	68	HTH CENPB-type. {ECO:0000255|PROSITE- ProRule:PRU00583}.					nucleus (GO:0005634)	DNA binding (GO:0003677)	p.R68H(1)		breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	14		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;3.86e-05)		GTATCCAAACGTAAATCTATG	0.378																																						ENST00000317005.2																			1	Substitution - Missense(1)	p.R68H(1)	prostate(1)	breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	14						c.(202-204)cGt>cAt		tigger transposable element derived 2							102	98	99					4																	90034328		2203	4300	6503	SO:0001583	missense	166815				regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	DNA binding	g.chr4:90034328G>A	AK027653	CCDS3633.1	4q21.3	2013-02-21			ENSG00000180346	ENSG00000180346			18333	protein-coding gene	gene with protein product		612973					Standard	NM_145715		Approved		uc003hsk.3	Q4W5G0	OTTHUMG00000130946	ENST00000317005.2:c.203G>A	4.37:g.90034328G>A	ENSP00000317170:p.Arg68His						p.R68H	NM_145715.2	NP_663761.1	Q4W5G0	TIGD2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;3.86e-05)	1	361	+		Hepatocellular(203;0.114)	68			HTH CENPB-type.			Missense_Mutation	SNP	ENST00000317005.2	37	c.203G>A	CCDS3633.1	.	.	.	.	.	.	.	.	.	.	g	13.64	2.298932	0.40694	.	.	ENSG00000180346	ENST00000317005	T	0.33438	1.41	3.77	2.92	0.33932	Pogo transposase / Cenp-B / PDC2, DNA-binding HTH domain (1);	0.000000	0.42294	U	0.000726	T	0.53610	0.1807	M	0.85945	2.785	0.24802	N	0.992692	D	0.89917	1.0	D	0.79784	0.993	T	0.44528	-0.9322	10	0.72032	D	0.01	.	7.1921	0.25831	0.1267:0.0:0.8733:0.0	.	68	Q4W5G0	TIGD2_HUMAN	H	68	ENSP00000317170:R68H	ENSP00000317170:R68H	R	+	2	0	TIGD2	90253351	1.000000	0.71417	0.931000	0.37212	0.721000	0.41392	5.195000	0.65131	0.803000	0.34113	0.454000	0.30748	CGT		0.378	TIGD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253545.2	NM_145715		5	145	0	0	0	0.217242	0	5	145					A	90034328	G	A	90034328	3	1	35	1	0	0	0	0	1	0	0	0	15893	1145	40	1	205	1	TIGD2	4	90034328	Missense_Mutation	SNP	G	TCGA-CH-5769-01A-11D-1576-08	18524663	90034328	101119948	45	1782											
TET2	54790	broad.mit.edu	37	chr4	106158589	106158589	+	Intron	DEL	T	T	-																															cagatatgggattttccttcTttttttaaatcttgagtctg																										TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr4:106158589delT	ENST00000540549.1	+	3	4269				TET2_ENST00000305737.2_Frame_Shift_Del_p.F1165fs|TET2_ENST00000513237.1_Intron|TET2_ENST00000413648.2_Intron|TET2_ENST00000545826.1_Intron|TET2_ENST00000380013.4_Intron|TET2_ENST00000394764.1_Frame_Shift_Del_p.F1165fs			Q6N021	TET2_HUMAN	tet methylcytosine dioxygenase 2						5-methylcytosine catabolic process (GO:0006211)|cell cycle (GO:0007049)|DNA demethylation (GO:0080111)|histone H3-K4 trimethylation (GO:0080182)|kidney development (GO:0001822)|myeloid cell differentiation (GO:0030099)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic development (GO:0009791)|protein O-linked glycosylation (GO:0006493)		DNA binding (GO:0003677)|ferrous iron binding (GO:0008198)|methylcytosine dioxygenase activity (GO:0070579)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1272)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	1314		Myeloproliferative disorder(5;0.0393)		OV - Ovarian serous cystadenocarcinoma(123;7.18e-08)		ATTTTCCTTCTTTTTTTAAAT	0.368			"Mis N, F"		MDS																																	ENST00000305737.2				Rec	yes		4	4q24	54790	"Mis N, F"	tet oncogene family member 2			L			MDS		0				NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1272)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	1314						c.(3490-3492)ttfs		tet methylcytosine dioxygenase 2							39	42	41					4																	106158589		2036	4229	6265	SO:0001627	intron_variant	54790				cell cycle|myeloid cell differentiation		metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr4:106158589delT	AB046766	CCDS3666.1, CCDS47120.1	4q24	2014-09-17	2011-09-30	2008-03-12	ENSG00000168769	ENSG00000168769			25941	protein-coding gene	gene with protein product		612839	"KIAA1546", "tet oncogene family member 2"	KIAA1546		10997877, 12646957	Standard	NM_017628		Approved	FLJ20032	uc003hxk.3	Q6N021	OTTHUMG00000131213	ENST00000540549.1:c.3409+81T>-	4.37:g.106158589delT						TET2_ENST00000413648.2_Intron|TET2_ENST00000545826.1_Intron|TET2_ENST00000380013.4_Intron|TET2_ENST00000394764.1_Frame_Shift_Del_p.F1165fs|TET2_ENST00000513237.1_Intron|TET2_ENST00000540549.1_Intron	p.F1165fs	NM_017628.4	NP_060098.3	Q6N021	TET2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;7.18e-08)	3	3894	+		Myeloproliferative disorder(5;0.0393)	0					B5MDU0|Q2TB88|Q3LIB8|Q96JX5|Q9HCM6|Q9NXW0	Frame_Shift_Del	DEL	ENST00000540549.1	37	c.3490delT	CCDS47120.1																																																																																				0.368	TET2-202	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253952.2	NM_017628		8	92						8	92	---	---	---	---	-	106158589	T	-	106158589	6	5	35	0	1	1	0	1	0	0	0	0	15767	1609	56	0		0	TET2	4	106158589	Intron	DEL	T	TCGA-CH-5769-01A-11D-1576-08	16124261	106158589	84995687	46	1783											
SEC24B	10427	broad.mit.edu	37	chr4	110447421	110447421	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcacggtaacttctttgtccGttctactgatttgttatccc	6	18	6	11	2	3	1	1	1	2	0	5	1	5	1	2	1	2	3	2	1	3	7			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr4:110447421G>A	ENST00000265175.5	+	17	2886	c.2831G>A	c.(2830-2832)cGt>cAt	p.R944H	SEC24B_ENST00000399100.2_Missense_Mutation_p.R909H|SEC24B_ENST00000504968.2_Missense_Mutation_p.R974H	NM_006323.2	NP_006314.2	O95487	SC24B_HUMAN	SEC24 family member B	944					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|aorta morphogenesis (GO:0035909)|auditory receptor cell stereocilium organization (GO:0060088)|cellular protein metabolic process (GO:0044267)|cochlear nucleus development (GO:0021747)|COPII vesicle coating (GO:0048208)|coronary artery morphogenesis (GO:0060982)|ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)|lung lobe morphogenesis (GO:0060463)|membrane organization (GO:0061024)|neural tube closure (GO:0001843)|outflow tract morphogenesis (GO:0003151)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|pulmonary artery morphogenesis (GO:0061156)|regulation of cargo loading into COPII-coated vesicle (GO:1901301)|regulation of establishment of planar polarity involved in neural tube closure (GO:0090178)|small molecule metabolic process (GO:0044281)|vesicle-mediated transport (GO:0016192)	COPII vesicle coat (GO:0030127)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|membrane (GO:0016020)	transporter activity (GO:0005215)|zinc ion binding (GO:0008270)	p.R944H(1)|p.R909H(1)		breast(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;3.03e-05)		TTCTTTGTCCGTTCTACTGAT	0.358																																						ENST00000265175.5																			2	Substitution - Missense(2)	p.R944H(1)|p.R909H(1)	prostate(2)	breast(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(2830-2832)cGt>cAt		SEC24 family member B							205	186	192					4																	110447421		1856	4094	5950	SO:0001583	missense	10427				COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	protein binding|transporter activity|zinc ion binding	g.chr4:110447421G>A	AJ131245	CCDS43260.1, CCDS47124.1, CCDS75179.1	4q25	2013-10-21	2013-10-21		ENSG00000138802	ENSG00000138802			10704	protein-coding gene	gene with protein product		607184	"SEC24 (S. cerevisiae) related gene family, member B", "SEC24 family, member B (S. cerevisiae)"			10075675, 10329445	Standard	XM_005262688		Approved		uc003hzk.3	O95487	OTTHUMG00000161372	ENST00000265175.5:c.2831G>A	4.37:g.110447421G>A	ENSP00000265175:p.Arg944His					SEC24B_ENST00000399100.2_Missense_Mutation_p.R909H|SEC24B_ENST00000504968.2_Missense_Mutation_p.R974H	p.R944H	NM_006323.2	NP_006314.2	O95487	SC24B_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;3.03e-05)	17	2886	+		Hepatocellular(203;0.217)	944					B7ZKM8|B7ZKN4|Q0VG08	Missense_Mutation	SNP	ENST00000265175.5	37	c.2831G>A	CCDS47124.1	.	.	.	.	.	.	.	.	.	.	G	27.9	4.870183	0.91587	.	.	ENSG00000138802	ENST00000504968;ENST00000399100;ENST00000265175	T;T;T	0.27256	1.68;1.68;1.68	5.21	4.35	0.52113	Sec23/Sec24 beta-sandwich (1);	0.054311	0.85682	D	0.000000	T	0.51466	0.1676	M	0.77616	2.38	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.78314	0.979;0.986;0.991;0.984;0.979	T	0.56523	-0.7965	10	0.87932	D	0	-16.5841	14.7926	0.69854	0.0735:0.0:0.9265:0.0	.	858;543;974;909;944	B4DTM6;B4E2E1;B7ZKM8;O95487-2;O95487	.;.;.;.;SC24B_HUMAN	H	974;909;944	ENSP00000428564:R974H;ENSP00000382051:R909H;ENSP00000265175:R944H	ENSP00000265175:R944H	R	+	2	0	SEC24B	110666870	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	8.013000	0.88655	2.596000	0.87737	0.591000	0.81541	CGT		0.358	SEC24B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000364693.2			9	124	0	0	0	0.361761	0	9	124					A	110447421	G	A	110447421	3	1	35	1	0	0	0	0	1	0	0	0	13995	1145	40	1	2897	1	SEC24B	4	110447421	Missense_Mutation	SNP	G	TCGA-CH-5769-01A-11D-1576-08	4288832	110447421	80706855	47	1784											
LRIT3	345193	broad.mit.edu	37	chr4	110791704	110791704	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgttatcttaccattgatttGtttcttgttgtacaaagttt	8	22	6	5	0	2	1	0	1	2	0	2	1	2	1	1	0	2	5	1	0	4	9			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr4:110791704G>C	ENST00000594814.1	+	4	1799	c.1799G>C	c.(1798-1800)tGt>tCt	p.C600S	LRIT3_ENST00000379920.3_Missense_Mutation_p.C555S|LRIT3_ENST00000327908.3_Missense_Mutation_p.C417S|LRIT3_ENST00000409621.2_Missense_Mutation_p.C417S	NM_198506.3	NP_940908.3	Q3SXY7	LRIT3_HUMAN	leucine-rich repeat, immunoglobulin-like and transmembrane domains 3	600					regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				cervix(1)|kidney(1)|large_intestine(3)|lung(8)|prostate(2)|skin(1)	16				OV - Ovarian serous cystadenocarcinoma(123;0.0011)		CCATTGATTTGTTTCTTGTTG	0.383																																						ENST00000327908.3																			0				cervix(1)|kidney(1)|large_intestine(3)|lung(8)|prostate(2)|skin(1)	16						c.(1249-1251)tGt>tCt		leucine-rich repeat, immunoglobulin-like and transmembrane domains 3							168	165	166					4																	110791704		2203	4300	6503	SO:0001583	missense	345193					integral to membrane		g.chr4:110791704G>C	AK126648	CCDS3688.2, CCDS3688.3	4q25	2014-01-28	2007-06-19		ENSG00000183423	ENSG00000183423		"Immunoglobulin superfamily / I-set domain containing"	24783	protein-coding gene	gene with protein product	"fibronectin type III, immunoglobulin and leucine rich repeat domains 4"	615004					Standard	NM_198506		Approved	FLJ44691, FIGLER4, CSNB1F	uc031sgv.1	Q3SXY7	OTTHUMG00000132043	ENST00000594814.1:c.1799G>C	4.37:g.110791704G>C	ENSP00000469759:p.Cys600Ser					LRIT3_ENST00000409621.2_Missense_Mutation_p.C417S|LRIT3_ENST00000594814.1_Missense_Mutation_p.C600S|LRIT3_ENST00000379920.3_Missense_Mutation_p.C555S	p.C417S			Q3SXY7	LRIT3_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.0011)	4	2014	+			555					C9J1C2|Q6ZTG1	Missense_Mutation	SNP	ENST00000594814.1	37	c.1250G>C	CCDS3688.3	.	.	.	.	.	.	.	.	.	.	G	11.57	1.676622	0.29783	.	.	ENSG00000183423	ENST00000327908;ENST00000379920;ENST00000409621	T;T;T	0.57273	0.41;0.62;0.41	5.37	2.05	0.26809	.	0.340574	0.35320	N	0.003295	T	0.40956	0.1138	L	0.36672	1.1	0.28045	N	0.933604	B;B	0.32467	0.097;0.372	B;B	0.27500	0.016;0.08	T	0.40117	-0.9580	10	0.62326	D	0.03	.	14.1288	0.65240	0.0:0.0:0.2016:0.7984	.	555;417	Q3SXY7;Q3SXY7-2	LRIT3_HUMAN;.	S	417;555;417	ENSP00000328222:C417S;ENSP00000369252:C555S;ENSP00000386734:C417S	ENSP00000328222:C417S	C	+	2	0	LRIT3	111011153	1.000000	0.71417	0.999000	0.59377	0.856000	0.48823	3.369000	0.52365	0.519000	0.28406	-0.169000	0.13324	TGT		0.383	LRIT3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335270.2	NM_198506		7	101	0	0	0	0.27861	0	7	101					C	110791704	G	C	110791704	3	2	35	1	0	0	0	0	1	0	0	0	8949	1377	48	5	1674	5	LRIT3	4	110791704	Missense_Mutation	SNP	G	TCGA-CH-5769-01A-11D-1576-08	344283	110791704	80362572	48	1785											
KIAA0922	23240	broad.mit.edu	37	chr4	154502668	154502668	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacacaacatttgttagatcAtctctctattgtttacgtag	11	16	5	9	1	3	1	1	0	2	1	4	1	3	1	0	0	2	3	0	0	5	7			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr4:154502668A>G	ENST00000409663.3	+	9	900	c.848A>G	c.(847-849)cAt>cGt	p.H283R	KIAA0922_ENST00000409959.3_Missense_Mutation_p.H283R|KIAA0922_ENST00000440693.1_Missense_Mutation_p.H283R	NM_015196.3	NP_056011.3	A2VDJ0	T131L_HUMAN	KIAA0922	283						integral component of membrane (GO:0016021)				breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(16)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	63	all_hematologic(180;0.093)	Renal(120;0.118)				TTGTTAGATCATCTCTCTATT	0.323																																						ENST00000409959.3																			0				breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(16)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						c.(847-849)cAt>cGt		KIAA0922							116	113	114					4																	154502668		2203	4299	6502	SO:0001583	missense	23240					integral to membrane		g.chr4:154502668A>G	AK096538	CCDS3783.2, CCDS47148.1	4q31.3	2008-02-05			ENSG00000121210	ENSG00000121210			29146	protein-coding gene	gene with protein product						10231032, 11230166	Standard	NM_015196		Approved	DKFZp586H1322, TMEM131L	uc010ipp.3	A2VDJ0	OTTHUMG00000153244	ENST00000409663.3:c.848A>G	4.37:g.154502668A>G	ENSP00000386574:p.His283Arg					KIAA0922_ENST00000440693.1_Missense_Mutation_p.H283R|KIAA0922_ENST00000409663.3_Missense_Mutation_p.H283R	p.H283R	NM_001131007.1	NP_001124479.1	A2VDJ0	T131L_HUMAN			9	897	+	all_hematologic(180;0.093)	Renal(120;0.118)	283					B3KRV3|Q7LGA7|Q86Y92|Q8WU56|Q9H065|Q9Y2D7	Missense_Mutation	SNP	ENST00000409663.3	37	c.848A>G	CCDS3783.2	.	.	.	.	.	.	.	.	.	.	A	16.26	3.072827	0.55646	.	.	ENSG00000121210	ENST00000409663;ENST00000440693;ENST00000409959;ENST00000240487	T;T;T;T	0.19105	2.43;2.17;2.43;2.18	5.86	5.86	0.93980	.	0.106595	0.64402	D	0.000005	T	0.20820	0.0501	N	0.24115	0.695	0.25279	N	0.989456	P;P;P	0.47762	0.873;0.9;0.839	P;P;B	0.48400	0.544;0.576;0.372	T	0.13361	-1.0512	10	0.22109	T	0.4	-24.5894	15.1308	0.72520	1.0:0.0:0.0:0.0	.	283;283;283	A2VDJ0-3;A2VDJ0-5;A2VDJ0	.;.;T131L_HUMAN	R	283;283;283;144	ENSP00000386574:H283R;ENSP00000409663:H283R;ENSP00000386787:H283R;ENSP00000240487:H144R	ENSP00000240487:H144R	H	+	2	0	KIAA0922	154722118	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.895000	0.69814	2.367000	0.80283	0.528000	0.53228	CAT		0.323	KIAA0922-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000330370.1	NM_015196		4	112	0	0	0	0.184627	0	4	112					G	154502668	A	G	154502668	3	3	35	1	0	0	0	0	1	0	0	0	8201	217	8	4	882	4	KIAA0922	4	154502668	Missense_Mutation	SNP	A	TCGA-CH-5769-01A-11D-1576-08	43710964	154502668	36651608	49	1786											
AGA	175	broad.mit.edu	37	chr4	178352896	178352896	+	Frame_Shift_Del	DEL	T	T	-																															ctttttcctcagttggctgaTttttttcggaattataaacc																										TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr4:178352896delT	ENST00000264595.2	-	9	1134	c.1007delA	c.(1006-1008)aatfs	p.N336fs	AGA_ENST00000506853.1_5'Flank	NM_000027.3|NM_001171988.1	NP_000018.2|NP_001165459.1	P20933	ASPG_HUMAN	aspartylglucosaminidase	336					protein deglycosylation (GO:0006517)|protein maturation (GO:0051604)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	N4-(beta-N-acetylglucosaminyl)-L-asparaginase activity (GO:0003948)|peptidase activity (GO:0008233)			endometrium(1)|kidney(2)|large_intestine(6)|lung(5)|skin(2)	16		all_lung(41;1.27e-09)|Lung NSC(41;1.1e-08)|Breast(14;6.27e-05)|Melanoma(52;0.00102)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Hepatocellular(41;0.148)|all_neural(102;0.164)|Colorectal(36;0.245)		all cancers(43;1.37e-22)|Epithelial(43;3.86e-20)|OV - Ovarian serous cystadenocarcinoma(60;3.8e-11)|Colorectal(24;6.98e-05)|GBM - Glioblastoma multiforme(59;0.000362)|COAD - Colon adenocarcinoma(29;0.000462)|STAD - Stomach adenocarcinoma(60;0.0029)|LUSC - Lung squamous cell carcinoma(193;0.0328)|READ - Rectum adenocarcinoma(43;0.163)		AGTTGGCTGATTTTTTTCGGA	0.368																																						ENST00000264595.2																			0				endometrium(1)|kidney(2)|large_intestine(6)|lung(5)|skin(2)	16						c.(1006-1008)atfs		aspartylglucosaminidase							115	111	112					4																	178352896		2203	4300	6503	SO:0001589	frameshift_variant	175				asparagine catabolic process via L-aspartate|protein deglycosylation|protein maturation	endoplasmic reticulum|intermediate filament cytoskeleton|lysosome|microtubule cytoskeleton	N4-(beta-N-acetylglucosaminyl)-L-asparaginase activity	g.chr4:178352896delT	X55330	CCDS3829.1	4q34.3	2014-06-23			ENSG00000038002	ENSG00000038002	3.5.1.26		318	protein-coding gene	gene with protein product	"glycosylasparaginase", "N(4)-(beta-N-acetylglucosaminyl)-L-asparaginase"	613228					Standard	NM_000027		Approved	ASRG	uc003iuu.2	P20933	OTTHUMG00000160723	ENST00000264595.2:c.1007delA	4.37:g.178352896delT	ENSP00000264595:p.Asn336fs						p.N336fs	NM_000027.3|NM_001171988.1	NP_000018.2|NP_001165459.1	P20933	ASPG_HUMAN		all cancers(43;1.37e-22)|Epithelial(43;3.86e-20)|OV - Ovarian serous cystadenocarcinoma(60;3.8e-11)|Colorectal(24;6.98e-05)|GBM - Glioblastoma multiforme(59;0.000362)|COAD - Colon adenocarcinoma(29;0.000462)|STAD - Stomach adenocarcinoma(60;0.0029)|LUSC - Lung squamous cell carcinoma(193;0.0328)|READ - Rectum adenocarcinoma(43;0.163)	9	1134	-		all_lung(41;1.27e-09)|Lung NSC(41;1.1e-08)|Breast(14;6.27e-05)|Melanoma(52;0.00102)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Hepatocellular(41;0.148)|all_neural(102;0.164)|Colorectal(36;0.245)	336					B2R7H2|D3DP47|Q4W5Q2|Q6FHN6|Q9UCK6|Q9UCK7|Q9UCK8	Frame_Shift_Del	DEL	ENST00000264595.2	37	c.1007delA	CCDS3829.1																																																																																				0.368	AGA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361916.1	NM_000027		8	89						8	89	---	---	---	---	-	178352896	T	-	178352896	7	5	35	1	0	1	0	1	0	0	0	0	365	1493	52	0	37	0	AGA	4	178352896	Frame_Shift_Del	DEL	T	TCGA-CH-5769-01A-11D-1576-08	23850228	178352896	12801380	50	1787											
FAT1	2195	broad.mit.edu	37	chr4	187541003	187541003	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tcagcttatatgccgggtggGcctcaaagtccagaggagct	9	9	13	10	1	2	1	2	0	0	1	3	2	3	2	3	3	3	2	3	3	3	2			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr4:187541003G>A	ENST00000441802.2	-	10	6946	c.6737C>T	c.(6736-6738)gCc>gTc	p.A2246V		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	2246	Cadherin 20. {ECO:0000255|PROSITE- ProRule:PRU00043}.				actin filament organization (GO:0007015)|anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						TGCCGGGTGGGCCTCAAAGTC	0.463										HNSCC(5;0.00058)																											Colon(197;1040 2055 4143 4984 49344)	ENST00000441802.2																			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						c.(6736-6738)gCc>gTc		FAT atypical cadherin 1							143	148	146					4																	187541003		2045	4216	6261	SO:0001583	missense	2195				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding	g.chr4:187541003G>A	X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857		"Cadherins / Cadherin-related"	3595	protein-coding gene	gene with protein product	"cadherin-related family member 8"	600976	"FAT tumor suppressor (Drosophila) homolog", "FAT tumor suppressor homolog 1 (Drosophila)"	FAT		8586420	Standard	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.6737C>T	4.37:g.187541003G>A	ENSP00000406229:p.Ala2246Val	HNSCC(5;0.00058)					p.A2246V	NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN			10	6946	-			2246			Cadherin 20.			Missense_Mutation	SNP	ENST00000441802.2	37	c.6737C>T	CCDS47177.1	.	.	.	.	.	.	.	.	.	.	G	4.390	0.071970	0.08436	.	.	ENSG00000083857	ENST00000441802;ENST00000260147	T	0.03181	4.02	5.05	4.17	0.49024	Cadherin (4);Cadherin-like (1);	0.367801	0.31188	N	0.008087	T	0.03608	0.0103	L	0.28274	0.84	0.31248	N	0.694353	B	0.30211	0.273	B	0.30105	0.111	T	0.18116	-1.0347	10	0.22706	T	0.39	.	14.5609	0.68136	0.0:0.0:0.8527:0.1473	.	2246	Q14517	FAT1_HUMAN	V	2246;2248	ENSP00000406229:A2246V	ENSP00000260147:A2248V	A	-	2	0	FAT1	187777997	0.999000	0.42202	0.998000	0.56505	0.469000	0.32828	3.847000	0.55895	1.279000	0.44446	0.655000	0.94253	GCC		0.463	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3	NM_005245		8	283	0	0	0	0.27861	0	8	283					A	187541003	G	A	187541003	3	1	35	1	0	0	0	0	1	0	0	0	5689	1203	42	3	7101	3	FAT1	4	187541003	Missense_Mutation	SNP	G	TCGA-CH-5769-01A-11D-1576-08	9188107	187541003	3613273	51	1788											
NDUFS6	4726	broad.mit.edu	37	chr5	1814479	1814479	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gaaaactttgccattgatttGatagcagagcagcccgtgag	12	10	11	8	1	0	4	0	3	0	1	0	5	0	4	2	0	5	2	2	0	3	4	rs35349407		TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr5:1814479G>A	ENST00000274137.5	+	3	231	c.213G>A	c.(211-213)ttG>ttA	p.L71L	NDUFS6_ENST00000469176.1_Silent_p.L71L	NM_004553.4	NP_004544.1	O75380	NDUS6_HUMAN	NADH dehydrogenase (ubiquinone) Fe-S protein 6, 13kDa (NADH-coenzyme Q reductase)	71					cardiovascular system development (GO:0072358)|cellular metabolic process (GO:0044237)|fatty acid metabolic process (GO:0006631)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|mitochondrion morphogenesis (GO:0070584)|multicellular organism growth (GO:0035264)|multicellular organismal aging (GO:0010259)|muscle contraction (GO:0006936)|reproductive system development (GO:0061458)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)	electron carrier activity (GO:0009055)|NADH dehydrogenase (ubiquinone) activity (GO:0008137)	p.L71L(1)		central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|prostate(1)	7						CCATTGATTTGATAGCAGAGC	0.468																																						ENST00000274137.5																			1	Substitution - coding silent(1)	p.L71L(1)	prostate(1)	central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|prostate(1)	7						c.(211-213)ttG>ttA		NADH dehydrogenase (ubiquinone) Fe-S protein 6, 13kDa (NADH-coenzyme Q reductase)	NADH(DB00157)						148	138	141					5																	1814479		2203	4300	6503	SO:0001819	synonymous_variant	4726				mitochondrial electron transport, NADH to ubiquinone|transport	mitochondrial respiratory chain complex I	electron carrier activity|NADH dehydrogenase (ubiquinone) activity	g.chr5:1814479G>A	BC038664	CCDS3866.1	5p15.33	2011-07-04	2002-08-29		ENSG00000145494	ENSG00000145494	1.6.99.3, 1.6.5.3	"Mitochondrial respiratory chain complex / Complex I"	7713	protein-coding gene	gene with protein product	"complex I 13kDa subunit A", "NADH dehydrogenase [ubiquinone] iron-sulfur protein 6, mitochondrial"	603848	"NADH dehydrogenase (ubiquinone) Fe-S protein 6 (13kD) (NADH-coenzyme Q reductase)"			9763677	Standard	NM_004553		Approved	CI-13kA	uc003jcy.3	O75380	OTTHUMG00000090372	ENST00000274137.5:c.213G>A	5.37:g.1814479G>A						NDUFS6_ENST00000469176.1_Silent_p.L71L	p.L71L	NM_004553.4	NP_004544.1	O75380	NDUS6_HUMAN			3	231	+			71						Silent	SNP	ENST00000274137.5	37	c.213G>A	CCDS3866.1																																																																																				0.468	NDUFS6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206744.2	NM_004553		7	147	0	0	0	0.27861	0	7	147					A	1814479	G	A	1814479	2	1	35	1	0	0	0	0	0	0	0	1	10296	1281	45	3		3	NDUFS6	5	1814479	Silent	SNP	G	TCGA-CH-5769-01A-11D-1576-08		1814479	179100781	52	1789											
DIMT1L	27292	broad.mit.edu	37	chr5	61688029	61688029	+	Frame_Shift_Del	DEL	T	T	-																															ctgaacagtgaattctgtagTttttttccaagagttgttgc																										TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr5:61688029delT	ENST00000199320.4	-	10	921	c.761delA	c.(760-762)aacfs	p.N254fs	DIMT1_ENST00000506390.1_Frame_Shift_Del_p.N254fs|KIF2A_ENST00000509663.2_Intron	NM_014473.2	NP_055288.1	Q9UNQ2	DIM1_HUMAN	DIM1 dimethyladenosine transferase 1 homolog (S. cerevisiae)	254						cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	18S rRNA (adenine(1779)-N(6)/adenine(1780)-N(6))-dimethyltransferase activity (GO:0052909)|poly(A) RNA binding (GO:0044822)|rRNA (adenine-N6,N6-)-dimethyltransferase activity (GO:0000179)										AATTCTGTAGTTTTTTTCCAA	0.299																																						ENST00000199320.4																			0											c.(760-762)acfs		DIM1 dimethyladenosine transferase 1 homolog (S. cerevisiae)							111	113	112					5																	61688029		2202	4296	6498	SO:0001589	frameshift_variant	27292					nucleolus	RNA binding|rRNA (adenine-N6,N6-)-dimethyltransferase activity	g.chr5:61688029delT	AF102147	CCDS3981.1	5q12.1	2011-08-11	2011-08-11	2011-08-11	ENSG00000086189	ENSG00000086189			30217	protein-coding gene	gene with protein product		612499	"DIM1 dimethyladenosine transferase 1-like (S. cerevisiae)"	DIMT1L		11124703	Standard	NM_014473		Approved	HSA9761	uc003jta.3	Q9UNQ2	OTTHUMG00000131223	ENST00000199320.4:c.761delA	5.37:g.61688029delT	ENSP00000199320:p.Asn254fs					KIF2A_ENST00000509663.2_Intron|DIMT1_ENST00000506390.1_Frame_Shift_Del_p.N254fs	p.N254fs	NM_014473.2	NP_055288.1	Q9UNQ2	DIMT1_HUMAN			10	921	-			254					O76025|Q9BU77|Q9UES1	Frame_Shift_Del	DEL	ENST00000199320.4	37	c.761delA	CCDS3981.1																																																																																				0.299	DIMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253967.1	NM_014473		7	185						7	185	---	---	---	---	-	61688029	T	-	61688029	7	5	35	1	0	1	0	1	0	0	0	0	4523	1725	60	0	192	0	DIMT1L	5	61688029	Frame_Shift_Del	DEL	T	TCGA-CH-5769-01A-11D-1576-08	59873550	61688029	119227231	53	1790											
PCDHA2	56146	broad.mit.edu	37	chr5	140176233	140176233	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctggacgagaacgacaacGcgccggcactgttggcgcct	8	6	14	13	6	0	1	0	0	0	1	0	4	0	2	2	3	3	3	2	3	2	1			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr5:140176233G>A	ENST00000526136.1	+	1	1684	c.1684G>A	c.(1684-1686)Gcg>Acg	p.A562T	PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000378132.1_Missense_Mutation_p.A562T|PCDHA2_ENST00000520672.2_Missense_Mutation_p.A562T|PCDHA1_ENST00000394633.3_Intron	NM_018905.2	NP_061728.1	Q9Y5H9	PCDA2_HUMAN	protocadherin alpha 2	562	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.A562T(4)		NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAACGACAACGCGCCGGCACT	0.697																																						ENST00000526136.1																			4	Substitution - Missense(4)	p.A562T(4)	large_intestine(2)|prostate(2)	NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)	71						c.(1684-1686)Gcg>Acg									86	84	85					5																	140176233		2203	4298	6501	SO:0001583	missense	0							g.chr5:140176233G>A	AF152480	CCDS54914.1, CCDS64269.1	5q31	2010-11-26				ENSG00000204969		"Cadherins / Protocadherins : Clustered"	8668	other	complex locus constituent	"KIAA0345-like 12"	606308				10380929	Standard	NM_018905		Approved			Q9Y5H9		ENST00000526136.1:c.1684G>A	5.37:g.140176233G>A	ENSP00000431748:p.Ala562Thr					PCDHA2_ENST00000520672.2_Missense_Mutation_p.A562T|PCDHA2_ENST00000378132.1_Missense_Mutation_p.A562T|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron	p.A562T	NM_018905.2	NP_061728.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1684	+								O75287|Q9BTV3	Missense_Mutation	SNP	ENST00000526136.1	37	c.1684G>A	CCDS54914.1	.	.	.	.	.	.	.	.	.	.	g	19.52	3.842971	0.71488	.	.	ENSG00000204969	ENST00000520672;ENST00000378132;ENST00000526136	T;T;T	0.43294	0.95;0.95;0.95	4.05	3.1	0.35709	Cadherin (4);Cadherin conserved site (1);Cadherin-like (1);	0.000000	0.39475	U	0.001345	T	0.52661	0.1748	M	0.65975	2.015	0.32499	N	0.539106	D;P;D	0.60160	0.965;0.609;0.987	P;B;P	0.54140	0.743;0.082;0.743	T	0.67133	-0.5747	10	0.54805	T	0.06	.	13.8621	0.63566	0.0:0.1536:0.8464:0.0	.	562;562;562	Q9Y5H9-3;Q9Y5H9;Q9Y5H9-2	.;PCDA2_HUMAN;.	T	562	ENSP00000430584:A562T;ENSP00000367372:A562T;ENSP00000431748:A562T	ENSP00000367372:A562T	A	+	1	0	PCDHA2	140156417	0.887000	0.30362	0.998000	0.56505	0.724000	0.41520	1.626000	0.37039	1.989000	0.58080	0.644000	0.83932	GCG		0.697	PCDHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372877.3	NM_018905		13	216	0	0	0	0.500413	0	13	216					A	140176233	G	A	140176233	3	1	35	1	0	0	0	0	1	0	0	0	11524	1087	38	1	1686	1	PCDHA2	5	140176233	Missense_Mutation	SNP	G	TCGA-CH-5769-01A-11D-1576-08	78488204	140176233	40739027	54	1791											
PCDHA4	56144	broad.mit.edu	37	chr5	140188641	140188641	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcgcgcgcatcccgttccgCgtggggctgtacactggcga	4	7	16	14	7	0	0	0	0	0	0	2	1	2	0	2	4	1	4	2	4	1	2			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr5:140188641C>T	ENST00000530339.1	+	1	1869	c.1869C>T	c.(1867-1869)cgC>cgT	p.R623R	PCDHA4_ENST00000356878.4_Silent_p.R623R|PCDHA1_ENST00000504120.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Silent_p.R623R|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron	NM_018907.2	NP_061730.1	Q9UN74	PCDA4_HUMAN	protocadherin alpha 4	623	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.R623R(2)		breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(6)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCCCGTTCCGCGTGGGGCTGT	0.672																																						ENST00000530339.1																			2	Substitution - coding silent(2)	p.R623R(2)	prostate(2)	breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(6)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	78						c.(1867-1869)cgC>cgT									90	89	89					5																	140188641		2203	4299	6502	SO:0001819	synonymous_variant	0							g.chr5:140188641C>T	AF152482	CCDS54916.1	5q31	2010-11-26				ENSG00000204967		"Cadherins / Protocadherins : Clustered"	8670	other	complex locus constituent	"ortholog of mouse CNR1, KIAA0345-like 10"	606310				10380929, 10662547	Standard	NM_018907		Approved	CNR1, CRNR1, PCDH-ALPHA4, CNRN1		Q9UN74		ENST00000530339.1:c.1869C>T	5.37:g.140188641C>T						PCDHA4_ENST00000356878.4_Silent_p.R623R|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Silent_p.R623R|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron	p.R623R	NM_018907.2	NP_061730.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1869	+								O75285|Q2M253	Silent	SNP	ENST00000530339.1	37	c.1869C>T	CCDS54916.1																																																																																				0.672	PCDHA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372864.2	NM_018907		9	199	0	0	0	0.361761	0	9	199					T	140188641	C	T	140188641	2	4	35	1	0	0	0	0	0	0	0	1	11526	755	27	1		1	PCDHA4	5	140188641	Silent	SNP	C	TCGA-CH-5769-01A-11D-1576-08	12408	140188641	40726619	55	1792											
PCDHA13	56136	broad.mit.edu	37	chr5	140263967	140263967	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttacttgatcattgccatctGcgcggtgtccagcctgttgg	5	14	11	11	2	2	1	1	1	1	0	3	1	3	1	3	2	4	1	3	2	1	4			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr5:140263967G>A	ENST00000289272.2	+	1	2114	c.2114G>A	c.(2113-2115)tGc>tAc	p.C705Y	PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA13_ENST00000409494.1_Missense_Mutation_p.C705Y|PCDHA10_ENST00000506939.2_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000530339.1_Intron	NM_018904.2|NM_031865.1	NP_061727.1|NP_114071.1	Q9Y5I0	PCDAD_HUMAN	protocadherin alpha 13	705					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|biliary_tract(2)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(18)|liver(3)|lung(23)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATTGCCATCTGCGCGGTGTCC	0.662																																					Melanoma(147;1739 1852 5500 27947 37288)	ENST00000289272.2																			0				NS(1)|biliary_tract(2)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(18)|liver(3)|lung(23)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	95						c.(2113-2115)tGc>tAc									86	73	77					5																	140263967		2203	4300	6503	SO:0001583	missense	0							g.chr5:140263967G>A	AF152478	CCDS4240.1	5q31	2010-11-26			ENSG00000239389	ENSG00000239389		"Cadherins / Protocadherins : Clustered"	8667	other	complex locus constituent	"KIAA0345-like 1", "ortholog of mouse CNR5"	606319		CNRS5		10380929, 10662547	Standard	NM_018904		Approved	CNR5, CRNR5, CNRN5, PCDH-ALPHA13		Q9Y5I0	OTTHUMG00000129614	ENST00000289272.2:c.2114G>A	5.37:g.140263967G>A	ENSP00000289272:p.Cys705Tyr					PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA13_ENST00000409494.1_Missense_Mutation_p.C705Y|PCDHA5_ENST00000529859.1_Intron	p.C705Y	NM_018904.2|NM_031865.1	NP_061727.1|NP_114071.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2114	+								O75277	Missense_Mutation	SNP	ENST00000289272.2	37	c.2114G>A	CCDS4240.1	.	.	.	.	.	.	.	.	.	.	G	15.54	2.862445	0.51482	.	.	ENSG00000239389	ENST00000409494;ENST00000289272	T;T	0.20881	2.04;2.04	4.08	4.08	0.47627	.	.	.	.	.	T	0.54515	0.1863	H	0.95402	3.665	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.984;0.971;0.998	T	0.64339	-0.6431	9	0.87932	D	0	.	8.7076	0.34365	0.0867:0.1546:0.7587:0.0	.	705;705;705	Q9Y5I0;C9JA99;Q9Y5I0-2	PCDAD_HUMAN;.;.	Y	705	ENSP00000386821:C705Y;ENSP00000289272:C705Y	ENSP00000289272:C705Y	C	+	2	0	PCDHA13	140244151	0.170000	0.23016	1.000000	0.80357	0.783000	0.44284	1.144000	0.31565	2.084000	0.62774	0.655000	0.94253	TGC		0.662	PCDHA13-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335000.1	NM_018904		12	204	0	0	0	0.457914	0	12	204					A	140263967	G	A	140263967	3	1	35	1	0	0	0	0	1	0	0	0	11523	1319	46	3	2116	3	PCDHA13	5	140263967	Missense_Mutation	SNP	G	TCGA-CH-5769-01A-11D-1576-08	75326	140263967	40651293	56	1793											
PCDHB15	56121	broad.mit.edu	37	chr5	140626634	140626634	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgctgccgccccgggacccGcacctgcccctcacctccct	3	6	8	24	3	1	0	1	0	0	0	2	1	2	1	9	1	3	2	9	1	0	0	rs546282724	byFrequency	TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr5:140626634G>A	ENST00000231173.3	+	1	1488	c.1488G>A	c.(1486-1488)ccG>ccA	p.P496P		NM_018935.2	NP_061758.1	Q9Y5E8	PCDBF_HUMAN	protocadherin beta 15	496	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|endometrium(8)|kidney(3)|large_intestine(14)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	61			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCCGGGACCCGCACCTGCCCC	0.657													G|||	2	0.000399361	0	0	5008	,	,		13906	0.001		0	False		,,,				2504	0.001					ENST00000231173.3																			0				NS(1)|breast(3)|endometrium(8)|kidney(3)|large_intestine(14)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	61						c.(1486-1488)ccG>ccA									76	89	85					5																	140626634		2203	4300	6503	SO:0001819	synonymous_variant	0				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	g.chr5:140626634G>A	AF152494	CCDS4257.1	5q31	2011-06-07			ENSG00000113248	ENSG00000113248		"Cadherins / Protocadherins : Clustered"	8686	other	protocadherin		606341				10380929	Standard	NM_018935		Approved	PCDH-BETA15	uc003lje.3	Q9Y5E8	OTTHUMG00000129609	ENST00000231173.3:c.1488G>A	5.37:g.140626634G>A							p.P496P	NM_018935.2	NP_061758.1	Q9Y5E8	PCDBF_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1488	+			496			Cadherin 5.		Q8IUX5	Silent	SNP	ENST00000231173.3	37	c.1488G>A	CCDS4257.1																																																																																				0.657	PCDHB15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251804.2	NM_018935		7	327	0	0	0	0.27861	0	7	327					A	140626634	G	A	140626634	2	1	35	1	0	0	0	0	0	0	0	1	11540	1074	38	1		1	PCDHB15	5	140626634	Silent	SNP	G	TCGA-CH-5769-01A-11D-1576-08	362667	140626634	40288626	57	1794											
PTK7	5754	broad.mit.edu	37	chr6	43126631	43126631	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgtgcataaggacttggctgCgcgtaactgcctggtcagtg	7	11	14	9	2	1	0	1	0	0	0	1	1	1	1	1	3	4	3	1	3	2	3			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr6:43126631C>T	ENST00000230419.4	+	18	3019	c.2798C>T	c.(2797-2799)gCg>gTg	p.A933V	PTK7_ENST00000481273.1_Missense_Mutation_p.A941V|PTK7_ENST00000352931.2_Missense_Mutation_p.A877V|PTK7_ENST00000345201.2_Missense_Mutation_p.A893V|PTK7_ENST00000349241.2_Missense_Mutation_p.A803V	NM_002821.4	NP_002812.2	Q13308	PTK7_HUMAN	protein tyrosine kinase 7	933	Interaction with CTNNB1.|Protein kinase; inactive. {ECO:0000255|PROSITE-ProRule:PRU00159}.		A -> V (in a colorectal adenocarcinoma sample; somatic mutation). {ECO:0000269|PubMed:17344846}.		actin cytoskeleton reorganization (GO:0031532)|axis elongation (GO:0003401)|canonical Wnt signaling pathway (GO:0060070)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cellular response to retinoic acid (GO:0071300)|cochlea morphogenesis (GO:0090103)|convergent extension (GO:0060026)|establishment of epithelial cell apical/basal polarity (GO:0045198)|establishment of planar polarity (GO:0001736)|lung-associated mesenchyme development (GO:0060484)|neural tube closure (GO:0001843)|peptidyl-tyrosine phosphorylation (GO:0018108)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of neuron projection development (GO:0010976)|signal transduction (GO:0007165)|wound healing (GO:0042060)	cell-cell junction (GO:0005911)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.A933V(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(12)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00784)|OV - Ovarian serous cystadenocarcinoma(102;0.0423)			GACTTGGCTGCGCGTAACTGC	0.587																																						ENST00000230419.4																			1	Substitution - Missense(1)	p.A933V(1)	large_intestine(1)	NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(12)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						c.(2797-2799)gCg>gTg		protein tyrosine kinase 7							81	69	73					6																	43126631		2203	4300	6503	SO:0001583	missense	0				actin cytoskeleton reorganization|canonical Wnt receptor signaling pathway|cell adhesion|cell migration	cell-cell junction|integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr6:43126631C>T	AF447176	CCDS4884.1, CCDS4885.1, CCDS4886.1, CCDS4887.1, CCDS59021.1	6p21.1-p12.2	2013-02-18	2013-02-18		ENSG00000112655	ENSG00000112655	2.7.10.1	"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	9618	protein-coding gene	gene with protein product		601890	"PTK7 protein tyrosine kinase 7"			7478540	Standard	NM_002821		Approved	CCK4	uc011dve.2	Q13308	OTTHUMG00000014721	ENST00000230419.4:c.2798C>T	6.37:g.43126631C>T	ENSP00000230419:p.Ala933Val					PTK7_ENST00000481273.1_Missense_Mutation_p.A941V|PTK7_ENST00000352931.2_Missense_Mutation_p.A877V|PTK7_ENST00000345201.2_Missense_Mutation_p.A893V|PTK7_ENST00000349241.2_Missense_Mutation_p.A803V	p.A933V	NM_002821.4	NP_002812.2	Q13308	PTK7_HUMAN	Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00784)|OV - Ovarian serous cystadenocarcinoma(102;0.0423)		18	3019	+			933		A -> V (in a colorectal adenocarcinoma sample; somatic mutation).	Interaction with CTNNB1.|Protein kinase; inactive.		A8K974|B7Z477|E9PFZ5|Q13417|Q5T650|Q6IQ54|Q8NFA5|Q8NFA6|Q8NFA7|Q8NFA8	Missense_Mutation	SNP	ENST00000230419.4	37	c.2798C>T	CCDS4884.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	35|35	5.571123|5.571123	0.96553|0.96553	.|.	.|.	ENSG00000112655|ENSG00000112655	ENST00000230419;ENST00000325774;ENST00000349241;ENST00000352931;ENST00000345201;ENST00000481273;ENST00000473339|ENST00000489707	D;D;D;D;D;D|.	0.90069|.	-2.61;-2.61;-2.61;-2.61;-2.61;-2.61|.	5.93|5.93	5.93|5.93	0.95920|0.95920	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);|.	0.056753|.	0.64402|.	D|.	0.000001|.	D|D	0.85141|0.85141	0.5629|0.5629	M|M	0.91663|0.91663	3.23|3.23	0.80722|0.80722	D|D	1|1	D;P;D;D;D;D|.	0.71674|.	0.998;0.758;0.989;0.994;0.971;0.997|.	D;B;P;P;P;D|.	0.65874|.	0.939;0.153;0.896;0.799;0.758;0.922|.	D|D	0.86955|0.86955	0.2088|0.2088	10|5	0.87932|.	D|.	0|.	.|.	20.3465|20.3465	0.98790|0.98790	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	941;259;803;893;877;933|.	E9PFZ5;F8W9X8;Q13308-3;Q13308-2;Q13308-4;Q13308|.	.;.;.;.;.;PTK7_HUMAN|.	V|C	933;259;803;877;893;941;201|228	ENSP00000230419:A933V;ENSP00000325462:A803V;ENSP00000326029:A877V;ENSP00000325992:A893V;ENSP00000418754:A941V;ENSP00000420186:A201V|.	ENSP00000230419:A933V|.	A|R	+|+	2|1	0|0	PTK7|PTK7	43234609|43234609	1.000000|1.000000	0.71417|0.71417	0.069000|0.069000	0.20011|0.20011	0.884000|0.884000	0.51177|0.51177	7.775000|7.775000	0.85489|0.85489	2.798000|2.798000	0.96311|0.96311	0.655000|0.655000	0.94253|0.94253	GCG|CGC		0.587	PTK7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040580.2			4	60	0	0	0	0.150653	0	4	60					T	43126631	C	T	43126631	3	4	35	1	0	0	0	0	1	0	0	0	12765	768	27	1	2868	1	PTK7	6	43126631	Missense_Mutation	SNP	C	TCGA-CH-5769-01A-11D-1576-08		43126631	127988436	58	1795											
PHF3	23469	broad.mit.edu	37	chr6	64415953	64415953	+	Frame_Shift_Del	DEL	A	A	-																															cctgtagatgatctttctccAaaaaaagtaaaagttgttgt																										TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr6:64415953delA	ENST00000262043.3	+	12	3742	c.3402delA	c.(3400-3402)ccafs	p.P1134fs	PHF3_ENST00000393387.1_Frame_Shift_Del_p.P1134fs			Q92576	PHF3_HUMAN	PHD finger protein 3	1134					multicellular organismal development (GO:0007275)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)			ATCTTTCTCCAAAAAAAGTAA	0.358																																					GBM(135;136 1820 29512 34071 46235)	ENST00000262043.3																			0				breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75						c.(3400-3402)ccfs		PHD finger protein 3							102	96	98					6																	64415953		2203	4300	6503	SO:0001589	frameshift_variant	23469				multicellular organismal development|transcription, DNA-dependent	nucleus	zinc ion binding	g.chr6:64415953delA	AF091622	CCDS4966.1	6q12	2013-09-24			ENSG00000118482	ENSG00000118482		"Zinc fingers, PHD-type"	8921	protein-coding gene	gene with protein product		607789				11856869	Standard	XM_005248701		Approved		uc003pep.1	Q92576	OTTHUMG00000014952	ENST00000262043.3:c.3402delA	6.37:g.64415953delA	ENSP00000262043:p.Pro1134fs					PHF3_ENST00000393387.1_Frame_Shift_Del_p.P1134fs	p.P1134fs			Q92576	PHF3_HUMAN	LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)		12	3742	+	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		1134					A3KFI8|Q14CR5|Q5CZI1|Q5T1T6|Q9NQ16|Q9UI45	Frame_Shift_Del	DEL	ENST00000262043.3	37	c.3402delA	CCDS4966.1																																																																																				0.358	PHF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041086.2			7	61						7	61	---	---	---	---	-	64415953	A	-	64415953	7	5	35	1	0	1	0	1	0	0	0	0	11836	117	5	0	3444	0	PHF3	6	64415953	Frame_Shift_Del	DEL	A	TCGA-CH-5769-01A-11D-1576-08	21289322	64415953	106699114	59	1796											
FILIP1	27145	broad.mit.edu	37	chr6	76022502	76022502	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgcaatctcagctggtgctgCtgatgtagacaccgtcatta	9	12	10	10	1	2	2	2	1	1	1	3	2	2	2	1	1	4	5	1	1	3	2			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr6:76022502C>T	ENST00000237172.7	-	5	3376	c.3046G>A	c.(3046-3048)Gca>Aca	p.A1016T	FILIP1_ENST00000498523.1_5'UTR|FILIP1_ENST00000393004.2_Missense_Mutation_p.A1016T|FILIP1_ENST00000370020.1_Missense_Mutation_p.A917T	NM_015687.2	NP_056502.1	Q7Z7B0	FLIP1_HUMAN	filamin A interacting protein 1	1016								p.A1016T(1)		breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						GCTGGTGCTGCTGATGTAGAC	0.488																																						ENST00000393004.2																			1	Substitution - Missense(1)	p.A1016T(1)	prostate(1)	breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						c.(3046-3048)Gca>Aca		filamin A interacting protein 1							140	139	139					6																	76022502		2203	4300	6503	SO:0001583	missense	27145							g.chr6:76022502C>T	AB033101	CCDS4984.1, CCDS75480.1	6q14.1	2008-02-05			ENSG00000118407	ENSG00000118407			21015	protein-coding gene	gene with protein product		607307				10574462	Standard	XM_005248713		Approved	FILIP, KIAA1275	uc003pia.3	Q7Z7B0	OTTHUMG00000015056	ENST00000237172.7:c.3046G>A	6.37:g.76022502C>T	ENSP00000237172:p.Ala1016Thr					FILIP1_ENST00000498523.1_5'UTR|FILIP1_ENST00000237172.7_Missense_Mutation_p.A1016T|FILIP1_ENST00000370020.1_Missense_Mutation_p.A917T	p.A1016T			Q7Z7B0	FLIP1_HUMAN			5	3267	-			1016					B2RMU6|Q5VUL6|Q86TC3|Q8N8B9|Q96SK6|Q9NVI8|Q9ULE5	Missense_Mutation	SNP	ENST00000237172.7	37	c.3046G>A	CCDS4984.1	.	.	.	.	.	.	.	.	.	.	C	15.84	2.951178	0.53186	.	.	ENSG00000118407	ENST00000393004;ENST00000237172;ENST00000370020	T;T;T	0.17528	2.27;2.27;2.27	6.03	6.03	0.97812	.	0.104145	0.64402	D	0.000003	T	0.08582	0.0213	L	0.38531	1.155	0.58432	D	0.999997	B;B;B	0.26672	0.156;0.006;0.011	B;B;B	0.23852	0.049;0.016;0.037	T	0.17471	-1.0368	10	0.19147	T	0.46	-15.3145	20.5568	0.99304	0.0:1.0:0.0:0.0	.	1016;1016;1016	A8K2G7;Q7Z7B0;Q7Z7B0-2	.;FLIP1_HUMAN;.	T	1016;1016;917	ENSP00000376728:A1016T;ENSP00000237172:A1016T;ENSP00000359037:A917T	ENSP00000237172:A1016T	A	-	1	0	FILIP1	76079222	0.716000	0.27956	0.777000	0.31699	0.978000	0.69477	1.493000	0.35605	2.861000	0.98227	0.655000	0.94253	GCA		0.488	FILIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041263.1	XM_029179		27	187	0	0	0	0.717897	0	27	187					T	76022502	C	T	76022502	3	4	35	1	0	0	0	0	1	0	0	0	5894	797	28	3	603	3	FILIP1	6	76022502	Missense_Mutation	SNP	C	TCGA-CH-5769-01A-11D-1576-08	11606549	76022502	95092565	60	1797											
TBX18	9096	broad.mit.edu	37	chr6	85446602	85446602	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	aaacaattttctcaggactgGcagccagtttgggggatgtg	10	11	13	7	0	1	0	1	0	1	0	2	2	1	2	1	4	2	2	1	4	2	3			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr6:85446602G>A	ENST00000369663.5	-	8	1962	c.1625C>T	c.(1624-1626)gCc>gTc	p.A542V	TBX18_ENST00000606784.1_Intron	NM_001080508.1	NP_001073977.1	O95935	TBX18_HUMAN	T-box 18	542					anterior/posterior axis specification (GO:0009948)|cochlea morphogenesis (GO:0090103)|morphogenesis of embryonic epithelium (GO:0016331)|negative regulation of canonical Wnt signaling pathway involved in neural plate anterior/posterior pattern formation (GO:0060829)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of mesenchymal cell proliferation involved in ureter development (GO:2000729)|sensory perception of sound (GO:0007605)|sinoatrial node development (GO:0003163)|smooth muscle cell differentiation (GO:0051145)|somitogenesis (GO:0001756)|ureter development (GO:0072189)	nucleus (GO:0005634)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(9)|liver(1)|lung(31)|ovary(2)|pancreas(3)|prostate(6)|skin(3)	61		all_cancers(76;0.000283)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0858)		BRCA - Breast invasive adenocarcinoma(108;0.0267)		CTCAGGACTGGCAGCCAGTTT	0.502																																						ENST00000369663.5																			0				NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(9)|liver(1)|lung(31)|ovary(2)|pancreas(3)|prostate(6)|skin(3)	61						c.(1624-1626)gCc>gTc		T-box 18							79	92	88					6																	85446602		2203	4300	6503	SO:0001583	missense	9096				multicellular organismal development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr6:85446602G>A	AJ010278	CCDS34495.1	6q14.1-q15	2012-12-19			ENSG00000112837	ENSG00000112837		"T-boxes"	11595	protein-coding gene	gene with protein product		604613				9888994, 16688725, 23242162	Standard	NM_001080508		Approved		uc003pkl.2	O95935	OTTHUMG00000015129	ENST00000369663.5:c.1625C>T	6.37:g.85446602G>A	ENSP00000358677:p.Ala542Val					TBX18_ENST00000606784.1_Intron	p.A542V	NM_001080508.1	NP_001073977.1	O95935	TBX18_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0267)	8	1962	-		all_cancers(76;0.000283)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0858)	542					A2RU13|Q7Z6U4|Q9UJI6	Missense_Mutation	SNP	ENST00000369663.5	37	c.1625C>T	CCDS34495.1	.	.	.	.	.	.	.	.	.	.	G	16.94	3.260498	0.59431	.	.	ENSG00000112837	ENST00000369663	D	0.89810	-2.57	5.26	5.26	0.73747	.	0.341113	0.31884	N	0.006904	T	0.78149	0.4238	L	0.32530	0.975	0.54753	D	0.999981	B	0.32203	0.36	B	0.25614	0.062	T	0.79075	-0.1952	10	0.45353	T	0.12	.	18.8443	0.92198	0.0:0.0:1.0:0.0	.	542	O95935	TBX18_HUMAN	V	542	ENSP00000358677:A542V	ENSP00000358677:A542V	A	-	2	0	TBX18	85503321	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	9.044000	0.93805	2.453000	0.82957	0.585000	0.79938	GCC		0.502	TBX18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041378.2	NM_001080508		6	225	0	0	0	0.248553	0	6	225					A	85446602	G	A	85446602	3	1	35	1	0	0	0	0	1	0	0	0	15650	1203	42	3	202	3	TBX18	6	85446602	Missense_Mutation	SNP	G	TCGA-CH-5769-01A-11D-1576-08	9424100	85446602	85668465	61	1798											
GABRR1	2569	broad.mit.edu	37	chr6	89891738	89891738	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	caagaagaagaagatgtggcGacgcaacgtgaaattaatgt	17	7	12	5	3	0	5	0	1	0	4	0	6	0	5	0	1	1	1	0	1	7	1			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr6:89891738G>A	ENST00000454853.2	-	8	945	c.835C>T	c.(835-837)Cgc>Tgc	p.R279C	GABRR1_ENST00000369451.3_Missense_Mutation_p.R192C|GABRR1_ENST00000435811.1_Missense_Mutation_p.R262C	NM_001256704.1|NM_002042.4	NP_001243633.1|NP_002033.2	P24046	GBRR1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, rho 1	279					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)	p.R279C(1)|p.R273C(1)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(7)|lung(16)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	35		all_cancers(76;9.49e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.46e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;0.000114)		BRCA - Breast invasive adenocarcinoma(108;0.00917)	Adinazolam(DB00546)|Bromazepam(DB01558)|Cinolazepam(DB01594)|Clotiazepam(DB01559)|Diazepam(DB00829)|Estazolam(DB01215)|Fludiazepam(DB01567)|Flurazepam(DB00690)|Halazepam(DB00801)|Midazolam(DB00683)|Nitrazepam(DB01595)|Oxazepam(DB00842)|Prazepam(DB01588)|Quazepam(DB01589)|Temazepam(DB00231)|Triazolam(DB00897)	AAGATGTGGCGACGCAACGTG	0.488																																						ENST00000435811.1																			2	Substitution - Missense(2)	p.R279C(1)|p.R273C(1)	prostate(2)	cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(7)|lung(16)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	35						c.(784-786)Cgc>Tgc		gamma-aminobutyric acid (GABA) A receptor, rho 1	Picrotoxin(DB00466)						173	156	162					6																	89891738		2203	4300	6503	SO:0001583	missense	2569				gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chr6:89891738G>A		CCDS5019.2, CCDS59028.1, CCDS59029.1	6q15	2012-06-22	2012-02-03		ENSG00000146276	ENSG00000146276		"GABA receptors", "Ligand-gated ion channels / GABA(A) receptors"	4090	protein-coding gene	gene with protein product	"GABA(A) receptor, rho 1"	137161	"gamma-aminobutyric acid (GABA) receptor, rho 1"			1849271, 1315307	Standard	NM_002042		Approved		uc003pna.2	P24046	OTTHUMG00000015195	ENST00000454853.2:c.835C>T	6.37:g.89891738G>A	ENSP00000412673:p.Arg279Cys					GABRR1_ENST00000369451.3_Missense_Mutation_p.R192C|GABRR1_ENST00000454853.2_Missense_Mutation_p.R279C	p.R262C	NM_001256703.1	NP_001243632.1	P24046	GBRR1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.00917)	7	1238	-		all_cancers(76;9.49e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.46e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;0.000114)	279					A1L401|B4DJK8|B4DQT5|B7ZBQ7|Q9BX06	Missense_Mutation	SNP	ENST00000454853.2	37	c.784C>T	CCDS5019.2	.	.	.	.	.	.	.	.	.	.	G	24.6	4.550762	0.86127	.	.	ENSG00000146276	ENST00000454853;ENST00000435811;ENST00000369451;ENST00000436331	D;D;D	0.96830	-4.14;-4.14;-4.14	5.37	5.37	0.77165	Neurotransmitter-gated ion-channel ligand-binding (3);	0.000000	0.85682	D	0.000000	D	0.98861	0.9615	H	0.96269	3.795	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.99679	1.0998	9	.	.	.	-21.261	19.1046	0.93290	0.0:0.0:1.0:0.0	.	262;279	P24046-2;P24046	.;GBRR1_HUMAN	C	279;262;192;192	ENSP00000412673:R279C;ENSP00000394687:R262C;ENSP00000358463:R192C	.	R	-	1	0	GABRR1	89948457	1.000000	0.71417	0.999000	0.59377	0.935000	0.57460	6.637000	0.74304	2.509000	0.84616	0.467000	0.42956	CGC		0.488	GABRR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041479.2			11	167	0	0	0	0.38729	0	11	167					A	89891738	G	A	89891738	3	1	35	1	0	0	0	0	1	0	0	0	6176	1058	37	2	616	2	GABRR1	6	89891738	Missense_Mutation	SNP	G	TCGA-CH-5769-01A-11D-1576-08	4445136	89891738	81223329	62	1799											
BEND3	57673	broad.mit.edu	37	chr6	107390676	107390676	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgcaccagcaggcgcgaggcGaagttgccgatggacaggct	9	5	16	11	4	0	0	0	0	0	0	0	4	0	1	2	4	3	4	2	4	1	1	rs370245100		TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr6:107390676G>A	ENST00000369042.1	-	4	1909	c.1719C>T	c.(1717-1719)ttC>ttT	p.F573F	BEND3_ENST00000429433.2_Silent_p.F573F			Q5T5X7	BEND3_HUMAN	BEN domain containing 3	573	BEN 3. {ECO:0000255|PROSITE- ProRule:PRU00784}.									central_nervous_system(1)|cervix(2)|endometrium(3)|large_intestine(7)|lung(10)|ovary(4)|prostate(3)	30						GGCGCGAGGCGAAGTTGCCGA	0.637																																						ENST00000429433.2																			0				central_nervous_system(1)|cervix(2)|endometrium(3)|large_intestine(7)|lung(10)|ovary(4)|prostate(3)	30						c.(1717-1719)ttC>ttT		BEN domain containing 3							54	53	53					6																	107390676		2203	4300	6503	SO:0001819	synonymous_variant	57673							g.chr6:107390676G>A	AB046773	CCDS34507.1	6q21	2012-11-22	2008-10-03	2008-10-03	ENSG00000178409	ENSG00000178409		"BEN domain containing"	23040	protein-coding gene	gene with protein product			"KIAA1553"	KIAA1553			Standard	NM_001080450		Approved		uc003prs.2	Q5T5X7	OTTHUMG00000015308	ENST00000369042.1:c.1719C>T	6.37:g.107390676G>A						BEND3_ENST00000369042.1_Silent_p.F573F	p.F573F	NM_001080450.2	NP_001073919.1	Q5T5X7	BEND3_HUMAN			5	2368	-			573			BEN 3.		A2RRH2|Q9HCL9	Silent	SNP	ENST00000369042.1	37	c.1719C>T	CCDS34507.1																																																																																				0.637	BEND3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041686.1	NM_020913		7	143	0	0	0	0.27861	0	7	143					A	107390676	G	A	107390676	2	1	35	1	0	0	0	0	0	0	0	1	1399	1049	37	2		2	BEND3	6	107390676	Silent	SNP	G	TCGA-CH-5769-01A-11D-1576-08	17498938	107390676	63724391	63	1800											
TPD52L1	7164	broad.mit.edu	37	chr6	125550342	125550342	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttgagataaaacaaaaactcGgcatgaacctgatgaatgaa	19	8	8	6	1	0	5	0	5	0	1	1	6	0	5	1	1	3	1	1	1	7	2			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr6:125550342G>A	ENST00000534000.1	+	3	510	c.214G>A	c.(214-216)Ggc>Agc	p.G72S	TPD52L1_ENST00000524679.1_Missense_Mutation_p.G43S|TPD52L1_ENST00000368402.5_Missense_Mutation_p.G72S|TPD52L1_ENST00000534199.1_Missense_Mutation_p.G43S|TPD52L1_ENST00000304877.13_Missense_Mutation_p.G72S|TPD52L1_ENST00000528193.1_Missense_Mutation_p.G72S|TPD52L1_ENST00000527711.1_Missense_Mutation_p.G72S|TPD52L1_ENST00000532429.1_Missense_Mutation_p.G43S|HDDC2_ENST00000608456.1_Intron|TPD52L1_ENST00000392482.2_Missense_Mutation_p.G43S|TPD52L1_ENST00000368388.2_Missense_Mutation_p.G72S	NM_003287.2	NP_003278.1	Q16890	TPD53_HUMAN	tumor protein D52-like 1	72					G2/M transition of mitotic cell cycle (GO:0000086)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of JNK cascade (GO:0046330)|positive regulation of MAP kinase activity (GO:0043406)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)	cytoplasm (GO:0005737)|perinuclear region of cytoplasm (GO:0048471)	identical protein binding (GO:0042802)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)	p.G72S(1)		endometrium(2)|large_intestine(2)|prostate(1)	5			LUSC - Lung squamous cell carcinoma(4;0.0263)|Lung(4;0.0828)	GBM - Glioblastoma multiforme(226;0.0265)		ACAAAAACTCGGCATGAACCT	0.393																																						ENST00000534000.1																			1	Substitution - Missense(1)	p.G72S(1)	prostate(1)	endometrium(2)|large_intestine(2)|prostate(1)	5						c.(214-216)Ggc>Agc		tumor protein D52-like 1							101	94	96					6																	125550342		2203	4300	6503	SO:0001583	missense	0				DNA fragmentation involved in apoptotic nuclear change|G2/M transition of mitotic cell cycle|induction of apoptosis|positive regulation of JNK cascade|positive regulation of MAP kinase activity	perinuclear region of cytoplasm	caspase activator activity|protein heterodimerization activity|protein homodimerization activity	g.chr6:125550342G>A	U44427	CCDS5130.1, CCDS34527.1, CCDS34528.1, CCDS43502.1, CCDS75513.1, CCDS75514.1	6q22-q23	2008-07-29			ENSG00000111907	ENSG00000111907			12006	protein-coding gene	gene with protein product		604069				8812487, 16112108	Standard	NM_003287		Approved	D53, hD53	uc003pzu.1	Q16890	OTTHUMG00000015505	ENST00000534000.1:c.214G>A	6.37:g.125550342G>A	ENSP00000434142:p.Gly72Ser					TPD52L1_ENST00000532429.1_Missense_Mutation_p.G43S|TPD52L1_ENST00000392482.2_Missense_Mutation_p.G43S|TPD52L1_ENST00000534199.1_Missense_Mutation_p.G43S|TPD52L1_ENST00000524679.1_Missense_Mutation_p.G43S|TPD52L1_ENST00000304877.13_Missense_Mutation_p.G72S|TPD52L1_ENST00000368388.2_Missense_Mutation_p.G72S|TPD52L1_ENST00000368402.5_Missense_Mutation_p.G72S|TPD52L1_ENST00000528193.1_Missense_Mutation_p.G72S|TPD52L1_ENST00000527711.1_Missense_Mutation_p.G72S	p.G72S	NM_003287.2	NP_003278.1	Q16890	TPD53_HUMAN	LUSC - Lung squamous cell carcinoma(4;0.0263)|Lung(4;0.0828)	GBM - Glioblastoma multiforme(226;0.0265)	3	510	+			72					A8K757|A8K772|A8MUD2|A8MUJ7|A8MW70|F6V707|O43397|Q5TC99|Q5TDQ0|Q9BUQ6|Q9C054	Missense_Mutation	SNP	ENST00000534000.1	37	c.214G>A	CCDS5130.1	.	.	.	.	.	.	.	.	.	.	G	35	5.593216	0.96602	.	.	ENSG00000111907	ENST00000534368;ENST00000304877;ENST00000534000;ENST00000368402;ENST00000368388;ENST00000527711;ENST00000528193;ENST00000532429;ENST00000534199;ENST00000392482;ENST00000524679;ENST00000392484	T;T;T;T;T;T;T;T;T;T;T	0.54866	0.55;0.55;0.55;0.55;0.55;0.55;0.55;0.55;0.55;0.55;0.55	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	T	0.75295	0.3830	M	0.88906	2.99	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;0.999;0.999;1.0	T	0.79659	-0.1711	10	0.87932	D	0	-21.0088	19.559	0.95364	0.0:0.0:1.0:0.0	.	72;72;72;72	E9PPQ1;Q16890-3;Q16890-2;Q16890	.;.;.;TPD53_HUMAN	S	43;72;72;72;72;72;72;43;43;43;43;72	ENSP00000432806:G43S;ENSP00000306285:G72S;ENSP00000434142:G72S;ENSP00000357387:G72S;ENSP00000357373:G72S;ENSP00000436953:G72S;ENSP00000434743:G72S;ENSP00000435447:G43S;ENSP00000432590:G43S;ENSP00000376273:G43S;ENSP00000432787:G43S	ENSP00000306285:G72S	G	+	1	0	TPD52L1	125592041	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.386000	0.97228	2.706000	0.92434	0.650000	0.86243	GGC		0.393	TPD52L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042065.2			5	128	0	0	0	0.184627	0	5	128					A	125550342	G	A	125550342	3	1	35	1	0	0	0	0	1	0	0	0	16395	1116	39	2	224	2	TPD52L1	6	125550342	Missense_Mutation	SNP	G	TCGA-CH-5769-01A-11D-1576-08	18159666	125550342	45564725	64	1801											
KIF25	3834	broad.mit.edu	37	chr6	168443358	168443358	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccgtggccatgccccgtaccGgaacagcaggctcacccacc	8	4	10	19	3	1	0	1	0	0	0	1	1	1	1	7	3	4	3	7	3	2	1	rs199959876	byFrequency	TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr6:168443358G>A	ENST00000443060.2	+	9	1338	c.947G>A	c.(946-948)cGg>cAg	p.R316Q	KIF25_ENST00000354419.2_Missense_Mutation_p.R316Q|KIF25_ENST00000351261.3_Intron			Q9UIL4	KIF25_HUMAN	kinesin family member 25	316	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic sister chromatid segregation (GO:0000070)|negative regulation of autophagy (GO:0010507)|organelle organization (GO:0006996)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.R316Q(1)		NS(2)|breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	29		Breast(66;1.07e-05)|Ovarian(120;0.0728)		Epithelial(4;7.7e-30)|OV - Ovarian serous cystadenocarcinoma(33;5.82e-22)|BRCA - Breast invasive adenocarcinoma(4;1.38e-10)|GBM - Glioblastoma multiforme(31;0.000756)		GCCCCGTACCGGAACAGCAGG	0.652													G|||	4	0.000798722	0	0.0043	5008	,	,		17785	0		0.001	False		,,,				2504	0					ENST00000443060.2																			1	Substitution - Missense(1)	p.R316Q(1)	prostate(1)	NS(2)|breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	29						c.(946-948)cGg>cAg		kinesin family member 25							112	107	109					6																	168443358		2203	4300	6503	SO:0001583	missense	0				microtubule-based movement|mitotic sister chromatid segregation	cytoplasm|kinesin complex|microtubule	ATP binding|microtubule motor activity	g.chr6:168443358G>A	AB012722	CCDS5305.1, CCDS43530.1	6q27	2008-02-05	2003-01-09	2003-01-10	ENSG00000125337	ENSG00000125337		"Kinesins"	6390	protein-coding gene	gene with protein product		603815	"kinesin-like 3"	KNSL3		9925910	Standard	NM_030615		Approved		uc003qwk.1	Q9UIL4	OTTHUMG00000016035	ENST00000443060.2:c.947G>A	6.37:g.168443358G>A	ENSP00000388878:p.Arg316Gln					KIF25_ENST00000354419.2_Missense_Mutation_p.R316Q|KIF25_ENST00000351261.3_Intron	p.R316Q			Q9UIL4	KIF25_HUMAN		Epithelial(4;7.7e-30)|OV - Ovarian serous cystadenocarcinoma(33;5.82e-22)|BRCA - Breast invasive adenocarcinoma(4;1.38e-10)|GBM - Glioblastoma multiforme(31;0.000756)	9	1338	+		Breast(66;1.07e-05)|Ovarian(120;0.0728)	316					O94775|Q5SZU9	Missense_Mutation	SNP	ENST00000443060.2	37	c.947G>A	CCDS5305.1	3	0.0013736263736263737	0	0.0	2	0.0055248618784530384	0	0.0	1	0.0013192612137203166	G	20.2	3.957786	0.73902	.	.	ENSG00000125337	ENST00000443060;ENST00000354419	D;D	0.85339	-1.97;-1.97	4.13	4.13	0.48395	Kinesin, motor domain (4);	0.000000	0.85682	D	0.000000	D	0.93687	0.7983	H	0.96269	3.795	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	D	0.95287	0.8391	10	0.87932	D	0	-7.1007	13.6293	0.62186	0.0:0.0:1.0:0.0	.	316	Q9UIL4	KIF25_HUMAN	Q	316	ENSP00000388878:R316Q;ENSP00000346401:R316Q	ENSP00000346401:R316Q	R	+	2	0	KIF25	168186207	1.000000	0.71417	0.506000	0.27664	0.433000	0.31745	5.343000	0.65976	2.011000	0.59026	0.543000	0.68304	CGG		0.652	KIF25-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362509.1			7	157	0	0	0	0.307466	0	7	157					A	168443358	G	A	168443358	3	1	35	1	0	0	0	0	1	0	0	0	8293	1116	39	2	973	2	KIF25	6	168443358	Missense_Mutation	SNP	G	TCGA-CH-5769-01A-11D-1576-08	42893016	168443358	2671709	65	1802											
CYTH3	9265	broad.mit.edu	37	chr7	6210514	6210514	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttgatgccgcggttcatggCgatgaaccgttctgccgtgg	5	11	15	10	5	2	2	1	2	1	0	2	3	2	2	3	3	3	3	3	3	1	3			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr7:6210514C>T	ENST00000350796.3	-	8	794	c.658G>A	c.(658-660)Gcc>Acc	p.A220T	CYTH3_ENST00000488964.1_5'UTR|CYTH3_ENST00000396741.2_Missense_Mutation_p.A135T	NM_004227.3	NP_004218.1	O43739	CYH3_HUMAN	cytohesin 3	220					establishment of epithelial cell polarity (GO:0090162)|Golgi vesicle transport (GO:0048193)|positive regulation of cell adhesion (GO:0045785)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)|regulation of cell adhesion (GO:0030155)	cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|urinary_tract(1)	19						CGGTTCATGGCGATGAACCGT	0.637																																						ENST00000350796.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|urinary_tract(1)	19						c.(658-660)Gcc>Acc		cytohesin 3							144	103	117					7																	6210514		2203	4300	6503	SO:0001583	missense	9265				regulation of ARF protein signal transduction|regulation of cell adhesion|vesicle-mediated transport	cytoplasm|membrane fraction|plasma membrane	1-phosphatidylinositol binding|ARF guanyl-nucleotide exchange factor activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity	g.chr7:6210514C>T	AJ223957	CCDS5346.1	7p22.1	2014-05-02	2008-08-14	2008-08-14	ENSG00000008256	ENSG00000008256		"Pleckstrin homology (PH) domain containing"	9504	protein-coding gene	gene with protein product		605081	"pleckstrin homology, Sec7 and coiled-coil domains 3"	PSCD3		9072969	Standard	NM_004227		Approved	GRP1, ARNO3, cytohesin-3	uc003spt.3	O43739	OTTHUMG00000023440	ENST00000350796.3:c.658G>A	7.37:g.6210514C>T	ENSP00000297044:p.Ala220Thr					CYTH3_ENST00000488964.1_5'UTR|CYTH3_ENST00000396741.2_Missense_Mutation_p.A135T	p.A220T	NM_004227.3	NP_004218.1	O43739	CYH3_HUMAN			8	794	-			220					A4D2N8	Missense_Mutation	SNP	ENST00000350796.3	37	c.658G>A	CCDS5346.1	.	.	.	.	.	.	.	.	.	.	C	14.97	2.693626	0.48202	.	.	ENSG00000008256	ENST00000350796;ENST00000396741	T;T	0.53857	0.6;0.6	5.48	1.47	0.22746	.	0.141598	0.64402	N	0.000003	T	0.32852	0.0843	N	0.25890	0.77	0.27520	N	0.951426	B;B	0.10296	0.001;0.003	B;B	0.11329	0.006;0.001	T	0.12630	-1.0540	10	0.33940	T	0.23	.	5.3676	0.16123	0.5687:0.0974:0.0:0.3338	.	135;220	B7Z2V9;O43739-2	.;.	T	220;135	ENSP00000297044:A220T;ENSP00000379967:A135T	ENSP00000297044:A220T	A	-	1	0	CYTH3	6177039	1.000000	0.71417	1.000000	0.80357	0.860000	0.49131	2.182000	0.42556	0.357000	0.24183	-0.302000	0.09304	GCC		0.637	CYTH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207396.2	NM_004227		7	32	0	0	0	0.27861	0	7	32					T	6210514	C	T	6210514	3	4	35	1	0	0	0	0	1	0	0	0	4205	768	27	1	565	1	CYTH3	7	6210514	Missense_Mutation	SNP	C	TCGA-CH-5769-01A-11D-1576-08		6210514	152928149	66	1803											
DDX56	54606	broad.mit.edu	37	chr7	44612025	44612025	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgagaaaagcctggtaaatcCggggcaagtgactgaaatga	15	7	13	6	1	0	4	0	4	0	1	1	5	1	4	2	3	1	2	2	3	6	1	rs140918826		TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr7:44612025C>T	ENST00000258772.5	-	5	672	c.566G>A	c.(565-567)cGg>cAg	p.R189Q	DDX56_ENST00000485367.1_5'UTR|DDX56_ENST00000431640.1_Missense_Mutation_p.R189Q	NM_001257189.1|NM_019082.3	NP_001244118.1|NP_061955.1	Q9NY93	DDX56_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 56	189	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				ATP catabolic process (GO:0006200)|rRNA processing (GO:0006364)	membrane (GO:0016020)|nucleolus (GO:0005730)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(5)|upper_aerodigestive_tract(1)	16						CTGGTAAATCCGGGGCAAGTG	0.493																																						ENST00000258772.5																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(5)|upper_aerodigestive_tract(1)	16						c.(565-567)cGg>cAg		DEAD (Asp-Glu-Ala-Asp) box helicase 56		C	GLN/ARG	1,4405		0,1,2202	68	66	67		566	6.1	1	7	dbSNP_134	67	0,8600		0,0,4300	no	missense	DDX56	NM_019082.2	43	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	189/548	44612025	1,13005	2203	4300	6503	SO:0001583	missense	54606				rRNA processing	nucleolus	ATP binding|ATP-dependent RNA helicase activity|identical protein binding|RNA binding	g.chr7:44612025C>T	AJ131712	CCDS5492.1, CCDS59053.1	7p13	2012-02-23	2012-02-23		ENSG00000136271	ENSG00000136271		"DEAD-boxes"	18193	protein-coding gene	gene with protein product	"nucleolar helicase of 61 kDa"	608023	"DEAD (Asp-Glu-Ala-Asp) box polypeptide 56"			10749921	Standard	NM_019082		Approved	NOH61	uc003tlg.4	Q9NY93	OTTHUMG00000129211	ENST00000258772.5:c.566G>A	7.37:g.44612025C>T	ENSP00000258772:p.Arg189Gln					DDX56_ENST00000485367.1_5'UTR|DDX56_ENST00000431640.1_Missense_Mutation_p.R189Q	p.R189Q	NM_001257189.1|NM_019082.3	NP_001244118.1|NP_061955.1	Q9NY93	DDX56_HUMAN			5	672	-			189			Helicase ATP-binding.		A4D2K9|C9JV95|Q6IAE2|Q9H9I8	Missense_Mutation	SNP	ENST00000258772.5	37	c.566G>A	CCDS5492.1	.	.	.	.	.	.	.	.	.	.	.	21.9	4.212715	0.79352	2.27E-4	0.0	ENSG00000136271	ENST00000258772;ENST00000431640	T;T	0.15256	2.44;2.44	6.07	6.07	0.98685	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.054851	0.64402	D	0.000001	T	0.10809	0.0264	N	0.12831	0.26	0.39894	D	0.973814	B;D	0.54047	0.36;0.964	B;B	0.42462	0.067;0.388	T	0.07102	-1.0790	10	0.40728	T	0.16	-23.4188	11.4039	0.49885	0.0:0.9189:0.0:0.0811	.	189;189	C9JV95;Q9NY93	.;DDX56_HUMAN	Q	189	ENSP00000258772:R189Q;ENSP00000393488:R189Q	ENSP00000258772:R189Q	R	-	2	0	DDX56	44578550	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.003000	0.49505	2.884000	0.98904	0.655000	0.94253	CGG		0.493	DDX56-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251291.1	NM_019082		5	66	0	0	0	0.217242	0	5	66					T	44612025	C	T	44612025	3	4	35	1	0	0	0	0	1	0	0	0	4374	652	23	2	1117	2	DDX56	7	44612025	Missense_Mutation	SNP	C	TCGA-CH-5769-01A-11D-1576-08	38401511	44612025	114526638	67	1804											
ZPBP	11055	broad.mit.edu	37	chr7	50121412	50121412	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cccataccattggaatgatgGgtctatcagttcagcatttc	10	13	8	10	0	3	1	2	1	1	0	4	2	3	2	2	2	2	2	2	2	3	5			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr7:50121412G>T	ENST00000046087.2	-	3	361	c.292C>A	c.(292-294)Cca>Aca	p.P98T	ZPBP_ENST00000419417.1_Missense_Mutation_p.P98T	NM_001159878.1|NM_007009.2	NP_001153350.1|NP_008940.2	Q9BS86	ZPBP1_HUMAN	zona pellucida binding protein	98					acrosome assembly (GO:0001675)|binding of sperm to zona pellucida (GO:0007339)	acrosomal vesicle (GO:0001669)|cell body (GO:0044297)|extracellular region (GO:0005576)|nucleus (GO:0005634)|zona pellucida receptor complex (GO:0002199)		p.P98T(1)		NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(3)	29	Glioma(55;0.08)|all_neural(89;0.245)					TGGAATGATGGGTCTATCAGT	0.358																																						ENST00000046087.2																			1	Substitution - Missense(1)	p.P98T(1)	prostate(1)	NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(3)	29						c.(292-294)Cca>Aca		zona pellucida binding protein							132	123	126					7																	50121412		2203	4300	6503	SO:0001583	missense	11055				binding of sperm to zona pellucida	extracellular region		g.chr7:50121412G>T	D17570	CCDS5509.1, CCDS55110.1	7p14.3	2013-01-11			ENSG00000042813	ENSG00000042813		"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	15662	protein-coding gene	gene with protein product		608498				9378618	Standard	NM_007009		Approved	SP38, ZPBP1	uc003tou.3	Q9BS86	OTTHUMG00000023528	ENST00000046087.2:c.292C>A	7.37:g.50121412G>T	ENSP00000046087:p.Pro98Thr					ZPBP_ENST00000419417.1_Missense_Mutation_p.P98T	p.P98T	NM_001159878.1|NM_007009.2	NP_001153350.1|NP_008940.2	Q9BS86	ZPBP1_HUMAN			3	361	-	Glioma(55;0.08)|all_neural(89;0.245)		98					A4D253|C9JPU1|Q15941|Q75KX9|Q75MI3	Missense_Mutation	SNP	ENST00000046087.2	37	c.292C>A	CCDS5509.1	.	.	.	.	.	.	.	.	.	.	G	20.1	3.933352	0.73442	.	.	ENSG00000042813	ENST00000046087;ENST00000419417;ENST00000450231	T;T;T	0.68025	-0.3;-0.3;-0.3	5.1	5.1	0.69264	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.52532	D	0.000073	T	0.81541	0.4844	M	0.79475	2.455	0.45035	D	0.998053	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.82637	-0.0359	9	.	.	.	-13.1095	15.4299	0.75084	0.0:0.0:1.0:0.0	.	98;98	C9JPU1;Q9BS86	.;ZPBP1_HUMAN	T	98;98;59	ENSP00000046087:P98T;ENSP00000402071:P98T;ENSP00000390054:P59T	.	P	-	1	0	ZPBP	50091958	1.000000	0.71417	1.000000	0.80357	0.918000	0.54935	5.198000	0.65147	2.375000	0.81037	0.460000	0.39030	CCA		0.358	ZPBP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251374.1	NM_007009		4	66	1	0	0.150653	0.150653	0.152858	4	66					T	50121412	G	T	50121412	3	4	35	1	0	0	0	0	1	0	0	0	18216	1232	43	5	787	5	ZPBP	7	50121412	Missense_Mutation	SNP	G	TCGA-CH-5769-01A-11D-1576-08	5509387	50121412	109017251	68	1805											
LANCL2	55915	broad.mit.edu	37	chr7	55492990	55492990	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaagaggccatggagtgtaGcgatgtgatttggcagcgag	11	8	17	5	2	0	2	0	1	0	1	0	6	0	3	1	3	2	2	1	3	2	2			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr7:55492990G>T	ENST00000254770.2	+	7	1630	c.1052G>T	c.(1051-1053)aGc>aTc	p.S351I		NM_018697.3	NP_061167.1	Q9NS86	LANC2_HUMAN	LanC lantibiotic synthetase component C-like 2 (bacterial)	351					negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of abscisic acid-activated signaling pathway (GO:0009789)	cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|catalytic activity (GO:0003824)|GTP binding (GO:0005525)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4-phosphate binding (GO:0070273)|phosphatidylinositol-5-phosphate binding (GO:0010314)			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(2)|lung(11)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1)	25	Breast(14;0.0379)		Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00128)|Epithelial(13;0.0706)			ATGGAGTGTAGCGATGTGATT	0.488																																						ENST00000254770.2																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(2)|lung(11)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1)	25						c.(1051-1053)aGc>aTc		LanC lantibiotic synthetase component C-like 2 (bacterial)							164	148	154					7																	55492990		2203	4300	6503	SO:0001583	missense	55915				negative regulation of transcription, DNA-dependent|positive regulation of abscisic acid mediated signaling pathway	cortical actin cytoskeleton|cytosol|nucleus|plasma membrane	ATP binding|catalytic activity|GTP binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4-phosphate binding|phosphatidylinositol-5-phosphate binding	g.chr7:55492990G>T	AJ278245	CCDS5517.1	7q31.1-q31.33	2008-07-18	2001-12-04		ENSG00000132434	ENSG00000132434			6509	protein-coding gene	gene with protein product	"testis-specific adriamycin sensitivity protein", "G protein-coupled receptor 69B"	612919	"LanC (bacterial lantibiotic synthetase component C)-like 2"	GPR69B		11762191	Standard	NM_018697		Approved	TASP	uc003tqp.3	Q9NS86	OTTHUMG00000023779	ENST00000254770.2:c.1052G>T	7.37:g.55492990G>T	ENSP00000254770:p.Ser351Ile						p.S351I	NM_018697.3	NP_061167.1	Q9NS86	LANC2_HUMAN	Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00128)|Epithelial(13;0.0706)		7	1630	+	Breast(14;0.0379)		351					B2R8D4|Q6NSL4|Q8TCQ3|Q9BSR1	Missense_Mutation	SNP	ENST00000254770.2	37	c.1052G>T	CCDS5517.1	.	.	.	.	.	.	.	.	.	.	G	15.84	2.951456	0.53186	.	.	ENSG00000132434	ENST00000254770	T	0.39592	1.07	5.5	5.5	0.81552	Six-hairpin glycosidase (1);Six-hairpin glycosidase-like (1);	0.166000	0.64402	D	0.000004	T	0.49729	0.1574	M	0.73217	2.22	0.44282	D	0.997146	P	0.37276	0.589	B	0.39299	0.296	T	0.55438	-0.8141	10	0.87932	D	0	.	18.3293	0.90263	0.0:0.0:1.0:0.0	.	351	Q9NS86	LANC2_HUMAN	I	351	ENSP00000254770:S351I	ENSP00000254770:S351I	S	+	2	0	LANCL2	55460484	1.000000	0.71417	0.825000	0.32803	0.089000	0.18198	4.280000	0.58959	2.741000	0.93983	0.650000	0.86243	AGC		0.488	LANCL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251459.1	NM_018697		5	135	1	0	1.024e-07	0.184627	1.13899e-07	5	135					T	55492990	G	T	55492990	3	4	35	1	0	0	0	0	1	0	0	0	8621	971	34	5	1078	5	LANCL2	7	55492990	Missense_Mutation	SNP	G	TCGA-CH-5769-01A-11D-1576-08	5371578	55492990	103645673	69	1806											
VKORC1L1	154807	broad.mit.edu	37	chr7	65419190	65419190	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcatcatctgcatcgtcaCgtacgtgctgaacttccttc	7	13	7	14	3	3	1	2	1	1	0	6	1	4	1	1	0	5	4	1	0	2	3			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr7:65419190C>T	ENST00000360768.3	+	3	539	c.434C>T	c.(433-435)aCg>aTg	p.T145M	VKORC1L1_ENST00000434382.2_Silent_p.H108H	NM_001284342.1|NM_173517.4	NP_001271271.1|NP_775788.2	Q8N0U8	VKORL_HUMAN	vitamin K epoxide reductase complex, subunit 1-like 1	145					cellular response to oxidative stress (GO:0034599)|peptidyl-glutamic acid carboxylation (GO:0017187)|vitamin K metabolic process (GO:0042373)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	quinone binding (GO:0048038)|vitamin-K-epoxide reductase (warfarin-sensitive) activity (GO:0047057)	p.H108H(1)|p.T145M(1)		large_intestine(1)|prostate(1)	2		Lung NSC(55;0.197)			Menadione(DB00170)	TGCATCGTCACGTACGTGCTG	0.512																																						ENST00000360768.3																			2	Substitution - Missense(1)|Substitution - coding silent(1)	p.H108H(1)|p.T145M(1)	prostate(2)	large_intestine(1)|prostate(1)	2						c.(433-435)aCg>aTg		vitamin K epoxide reductase complex, subunit 1-like 1	Menadione(DB00170)|Warfarin(DB00682)						188	143	158					7																	65419190		2203	4300	6503	SO:0001583	missense	154807					integral to membrane		g.chr7:65419190C>T		CCDS5529.1, CCDS64663.1	7q11.21	2013-10-07			ENSG00000196715	ENSG00000196715			21492	protein-coding gene	gene with protein product		608838				23928358	Standard	NM_001284342		Approved		uc003tul.3	Q8N0U8	OTTHUMG00000129449	ENST00000360768.3:c.434C>T	7.37:g.65419190C>T	ENSP00000353998:p.Thr145Met					VKORC1L1_ENST00000434382.2_Silent_p.H108H	p.T145M	NM_173517.3	NP_775788.2	Q8N0U8	VKORL_HUMAN			3	539	+		Lung NSC(55;0.197)	145					B4E222|E7ETM5|Q6AHW9|Q6TEK6	Missense_Mutation	SNP	ENST00000360768.3	37	c.434C>T	CCDS5529.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.166177	0.78339	.	.	ENSG00000196715	ENST00000360768	D	0.98150	-4.75	5.78	5.78	0.91487	Vitamin K epoxide reductase (2);	0.046984	0.85682	D	0.000000	D	0.98403	0.9469	M	0.69463	2.115	0.80722	D	1	D	0.76494	0.999	D	0.65874	0.939	D	0.98982	1.0805	10	0.66056	D	0.02	.	19.3632	0.94451	0.0:1.0:0.0:0.0	.	145	Q8N0U8	VKORL_HUMAN	M	145	ENSP00000353998:T145M	ENSP00000353998:T145M	T	+	2	0	VKORC1L1	65056625	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	7.360000	0.79487	2.894000	0.99253	0.591000	0.81541	ACG		0.512	VKORC1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251612.3	NM_173517		15	118	0	0	0	0.479597	0	15	118					T	65419190	C	T	65419190	3	4	35	1	0	0	0	0	1	0	0	0	17170	536	19	1	444	1	VKORC1L1	7	65419190	Missense_Mutation	SNP	C	TCGA-CH-5769-01A-11D-1576-08	9926200	65419190	93719473	70	1807											
PON2	5445	broad.mit.edu	37	chr7	95041699	95041699	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acgactgattcttaattcccGtgcccttggtttttcttctt	5	19	6	11	2	3	1	0	1	3	0	4	2	4	1	2	1	1	1	2	1	1	8			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr7:95041699G>A	ENST00000222572.3	-	4	538	c.292C>T	c.(292-294)Cgg>Tgg	p.R98W	PON2_ENST00000536183.1_Missense_Mutation_p.R119W|PON2_ENST00000483292.1_5'Flank|PON2_ENST00000433091.2_Missense_Mutation_p.R98W			Q15165	PON2_HUMAN	paraoxonase 2	98					aromatic compound catabolic process (GO:0019439)|response to oxidative stress (GO:0006979)	extracellular region (GO:0005576)|lysosome (GO:0005764)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	arylesterase activity (GO:0004064)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)|prostate(1)	9	all_cancers(62;9.35e-11)|all_epithelial(64;3.37e-09)		STAD - Stomach adenocarcinoma(171;0.0151)			CTTAATTCCCGTGCCCTTGGT	0.438																																					GBM(42;803 823 13649 23368 31463)	ENST00000536183.1																			0				breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)|prostate(1)	9						c.(355-357)Cgg>Tgg		paraoxonase 2							210	175	187					7																	95041699		2203	4300	6503	SO:0001583	missense	5445				aromatic compound catabolic process	extracellular region|plasma membrane	arylesterase activity|identical protein binding|metal ion binding	g.chr7:95041699G>A	M63012, AF001601	CCDS5640.1, CCDS47644.1	7q21.3	2014-03-14			ENSG00000105854	ENSG00000105854	3.1.1.2	"Paraoxonases"	9205	protein-coding gene	gene with protein product	"paraoxonase nirs", "arylesterase 2"	602447				8661009, 9714608	Standard	XM_005250453		Approved		uc003unv.3	Q15165	OTTHUMG00000153948	ENST00000222572.3:c.292C>T	7.37:g.95041699G>A	ENSP00000222572:p.Arg98Trp					PON2_ENST00000222572.3_Missense_Mutation_p.R98W|PON2_ENST00000433091.2_Missense_Mutation_p.R98W	p.R119W	NM_000305.2	NP_000296.2	Q15165	PON2_HUMAN	STAD - Stomach adenocarcinoma(171;0.0151)		4	538	-	all_cancers(62;9.35e-11)|all_epithelial(64;3.37e-09)		98					A4D1H7|B2RCP9|B4DJD5|O15114|O15115|O75856|Q5FBX7|Q86YL0	Missense_Mutation	SNP	ENST00000222572.3	37	c.355C>T	CCDS5640.1	.	.	.	.	.	.	.	.	.	.	G	12.58	1.981311	0.34942	.	.	ENSG00000105854	ENST00000536183;ENST00000355659;ENST00000433091;ENST00000222572	T;T;T	0.40225	2.31;1.04;2.31	4.86	3.07	0.35406	Six-bladed beta-propeller, TolB-like (1);	0.872780	0.10067	N	0.720149	T	0.23572	0.0570	N	0.19112	0.55	0.09310	N	0.999996	B;B	0.11235	0.004;0.004	B;B	0.08055	0.003;0.003	T	0.21827	-1.0234	10	0.37606	T	0.19	-19.5239	0.8091	0.01090	0.2384:0.1296:0.3816:0.2504	.	98;98	A4D1H7;Q15165	.;PON2_HUMAN	W	119;96;98;98	ENSP00000440282:R119W;ENSP00000404622:R98W;ENSP00000222572:R98W	ENSP00000222572:R98W	R	-	1	2	PON2	94879635	0.002000	0.14202	0.994000	0.49952	0.965000	0.64279	0.499000	0.22546	0.775000	0.33450	0.561000	0.74099	CGG		0.438	PON2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333142.1	NM_000305		5	85	0	0	0	0.184627	0	5	85					A	95041699	G	A	95041699	3	1	35	1	0	0	0	0	1	0	0	0	12249	1144	40	1	796	1	PON2	7	95041699	Missense_Mutation	SNP	G	TCGA-CH-5769-01A-11D-1576-08	29622509	95041699	64096964	71	1808											
ASB4	51666	broad.mit.edu	37	chr7	95157409	95157409	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actttaaatctcccctccacAaggcagcctggaactgtgac	11	9	7	14	0	1	1	0	1	1	0	3	2	2	2	4	2	2	1	4	2	4	2			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr7:95157409A>G	ENST00000325885.5	+	3	843	c.772A>G	c.(772-774)Aag>Gag	p.K258E	ASB4_ENST00000428113.1_Missense_Mutation_p.K258E	NM_016116.2	NP_057200.1	Q9Y574	ASB4_HUMAN	ankyrin repeat and SOCS box containing 4	258					intracellular signal transduction (GO:0035556)|positive regulation of vasculogenesis (GO:2001214)|protein autoubiquitination (GO:0051865)	Cul2-RING ubiquitin ligase complex (GO:0031462)|Cul5-RING ubiquitin ligase complex (GO:0031466)	ubiquitin-protein transferase activity (GO:0004842)	p.K258E(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|pancreas(1)|prostate(1)|skin(2)	20	all_cancers(62;2.27e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.218)|all_lung(186;0.246)		STAD - Stomach adenocarcinoma(171;0.0151)			TCCCCTCCACAAGGCAGCCTG	0.557											OREG0018172	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000325885.5																			1	Substitution - Missense(1)	p.K258E(1)	prostate(1)	central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|pancreas(1)|prostate(1)|skin(2)	20						c.(772-774)Aag>Gag		ankyrin repeat and SOCS box containing 4							79	69	72					7																	95157409		2203	4300	6503	SO:0001583	missense	51666				intracellular signal transduction			g.chr7:95157409A>G	AF156779	CCDS5641.1, CCDS5642.1	7q21-q22	2013-01-10	2011-01-25		ENSG00000005981	ENSG00000005981		"Ankyrin repeat domain containing"	16009	protein-coding gene	gene with protein product		605761	"ankyrin repeat and SOCS box-containing 4"				Standard	NM_145872		Approved	ASB-4	uc011kij.2	Q9Y574	OTTHUMG00000153960	ENST00000325885.5:c.772A>G	7.37:g.95157409A>G	ENSP00000321388:p.Lys258Glu		OREG0018172	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1310	ASB4_ENST00000428113.1_Missense_Mutation_p.K258E	p.K258E	NM_016116.2	NP_057200.1	Q9Y574	ASB4_HUMAN	STAD - Stomach adenocarcinoma(171;0.0151)		3	843	+	all_cancers(62;2.27e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.218)|all_lung(186;0.246)		258					A4D1H6|O14586|Q14D68|Q8TBT2	Missense_Mutation	SNP	ENST00000325885.5	37	c.772A>G	CCDS5641.1	.	.	.	.	.	.	.	.	.	.	A	20.5	4.005449	0.74932	.	.	ENSG00000005981	ENST00000325885;ENST00000428113	T;T	0.64085	-0.08;-0.08	4.94	4.94	0.65067	Ankyrin repeat-containing domain (3);	0.000000	0.85682	D	0.000000	T	0.69780	0.3149	L	0.37630	1.12	0.80722	D	1	P;D	0.76494	0.781;0.999	B;D	0.76575	0.248;0.988	T	0.67352	-0.5692	10	0.30854	T	0.27	-17.3408	15.3184	0.74102	1.0:0.0:0.0:0.0	.	258;258	Q9Y574;Q14D68	ASB4_HUMAN;.	E	258	ENSP00000321388:K258E;ENSP00000397070:K258E	ENSP00000321388:K258E	K	+	1	0	ASB4	94995345	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.256000	0.78350	2.172000	0.68678	0.379000	0.24179	AAG		0.557	ASB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333225.2	NM_016116		6	99	0	0	0	0.217242	0	6	99					G	95157409	A	G	95157409	3	3	35	1	0	0	0	0	1	0	0	0	1025	131	5	4	782	4	ASB4	7	95157409	Missense_Mutation	SNP	A	TCGA-CH-5769-01A-11D-1576-08	115710	95157409	63981254	72	1809											
ZNF394	84124	broad.mit.edu	37	chr7	99097377	99097377	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagctcctcgggcaggatggTgaggaactgctccagcacca	10	6	13	12	1	0	1	0	1	0	0	3	3	2	3	3	4	4	4	3	4	2	0			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr7:99097377T>C	ENST00000337673.6	-	1	543	c.340A>G	c.(340-342)Acc>Gcc	p.T114A	ZNF394_ENST00000394177.3_5'UTR|ZNF789_ENST00000494186.1_Intron|ZNF789_ENST00000493485.1_Intron|ZNF394_ENST00000426306.2_Missense_Mutation_p.T114A	NM_032164.2	NP_115540.2	Q53GI3	ZN394_HUMAN	zinc finger protein 394	114	SCAN box. {ECO:0000255|PROSITE- ProRule:PRU00187}.				transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(5)|stomach(1)|urinary_tract(1)	16	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)					GGCAGGATGGTGAGGAACTGC	0.677																																					Ovarian(24;589 697 9939 12704 40742)	ENST00000337673.6																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(5)|stomach(1)|urinary_tract(1)	16						c.(340-342)Acc>Gcc		zinc finger protein 394							65	69	68					7																	99097377		2203	4300	6503	SO:0001583	missense	84124				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr7:99097377T>C	BC025241	CCDS5666.1	7q22.1	2014-01-28			ENSG00000160908	ENSG00000160908		"Zinc fingers, C2H2-type", "-", "-", "-"	18832	protein-coding gene	gene with protein product							Standard	NM_032164		Approved	ZKSCAN14, FLJ12298, ZSCAN46	uc003uqs.3	Q53GI3	OTTHUMG00000154660	ENST00000337673.6:c.340A>G	7.37:g.99097377T>C	ENSP00000337363:p.Thr114Ala					ZNF789_ENST00000493485.1_Intron|ZNF789_ENST00000494186.1_Intron|ZNF394_ENST00000394177.3_5'UTR|ZNF394_ENST00000426306.2_Missense_Mutation_p.T114A	p.T114A	NM_032164.2	NP_115540.2	Q53GI3	ZN394_HUMAN			1	543	-	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)		114			SCAN box.		A4D281|Q05DA6|Q6P5X9|Q8TB27|Q9HA37|Q9UD51	Missense_Mutation	SNP	ENST00000337673.6	37	c.340A>G	CCDS5666.1	.	.	.	.	.	.	.	.	.	.	T	14.48	2.548063	0.45383	.	.	ENSG00000160908	ENST00000337673;ENST00000426306	T;T	0.04317	3.65;3.65	3.98	2.82	0.32997	Retrovirus capsid, C-terminal (1);Transcription regulator SCAN (3);	0.547039	0.16881	N	0.195684	T	0.06690	0.0171	M	0.66378	2.025	0.25247	N	0.989703	B;B	0.12630	0.006;0.002	B;B	0.19148	0.009;0.024	T	0.21793	-1.0235	10	0.46703	T	0.11	.	6.237	0.20768	0.0:0.1128:0.0:0.8872	.	114;114	Q05DA6;Q53GI3	.;ZN394_HUMAN	A	114	ENSP00000337363:T114A;ENSP00000409565:T114A	ENSP00000337363:T114A	T	-	1	0	ZNF394	98935313	0.050000	0.20438	0.930000	0.37139	0.981000	0.71138	0.659000	0.24994	0.873000	0.35799	0.459000	0.35465	ACC		0.677	ZNF394-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336498.1	NM_032164		5	217	0	0	0	0.248553	0	5	217					C	99097377	T	C	99097377	3	2	35	1	0	0	0	0	1	0	0	0	17877	1696	59	4	1357	4	ZNF394	7	99097377	Missense_Mutation	SNP	T	TCGA-CH-5769-01A-11D-1576-08	3939968	99097377	60041286	73	1810											
GNB2	2783	broad.mit.edu	37	chr7	100275276	100275276	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gtcagccgggagctgcctggCcacactggtgaggggcctgg	5	6	18	12	1	1	1	1	1	0	0	1	2	1	2	4	6	3	1	4	6	0	0			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr7:100275276C>T	ENST00000303210.4	+	6	905	c.423C>T	c.(421-423)ggC>ggT	p.G141G	GNB2_ENST00000427895.1_Silent_p.G41G|GNB2_ENST00000424361.1_Silent_p.G97G|GNB2_ENST00000419828.1_Silent_p.G41G|GNB2_ENST00000436220.1_Silent_p.G97G|GNB2_ENST00000393924.1_Silent_p.G141G|GNB2_ENST00000393926.1_Silent_p.G141G	NM_005273.3	NP_005264.2	P62879	GBB2_HUMAN	guanine nucleotide binding protein (G protein), beta polypeptide 2	141					cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|G-protein coupled receptor signaling pathway (GO:0007186)|GTP catabolic process (GO:0006184)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cell body (GO:0044297)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|vesicle (GO:0031982)	calcium channel regulator activity (GO:0005246)|GTPase activity (GO:0003924)|GTPase binding (GO:0051020)|protein complex binding (GO:0032403)|signal transducer activity (GO:0004871)	p.G141G(1)		endometrium(1)|lung(3)|ovary(2)|prostate(1)	7	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)	Ovarian(593;0.238)				AGCTGCCTGGCCACACTGGTG	0.657																																						ENST00000303210.4																			1	Substitution - coding silent(1)	p.G141G(1)	prostate(1)	endometrium(1)|lung(3)|ovary(2)|prostate(1)	7						c.(421-423)ggC>ggT		guanine nucleotide binding protein (G protein), beta polypeptide 2							37	41	40					7																	100275276		2203	4300	6503	SO:0001819	synonymous_variant	2783				cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|synaptic transmission	perinuclear region of cytoplasm|plasma membrane	GTPase activity|GTPase binding|signal transducer activity	g.chr7:100275276C>T	M16514	CCDS5703.1	7q21.3-q22.1	2013-01-10			ENSG00000172354	ENSG00000172354		"WD repeat domain containing"	4398	protein-coding gene	gene with protein product	"G protein, beta-2 subunit", "guanine nucleotide-binding protein G(I)/G(S)/G(T) beta subunit 2", "signal-transducing guanine nucleotide-binding regulatory protein beta subunit", "transducin beta chain 2"	139390				9799793	Standard	NM_005273		Approved		uc003uwb.3	P62879	OTTHUMG00000137419	ENST00000303210.4:c.423C>T	7.37:g.100275276C>T						GNB2_ENST00000393926.1_Silent_p.G141G|GNB2_ENST00000419828.1_Silent_p.G41G|GNB2_ENST00000424361.1_Silent_p.G97G|GNB2_ENST00000393924.1_Silent_p.G141G|GNB2_ENST00000427895.1_Silent_p.G41G|GNB2_ENST00000436220.1_Silent_p.G97G	p.G141G	NM_005273.3	NP_005264.2	P62879	GBB2_HUMAN			6	905	+	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)	Ovarian(593;0.238)	141					B3KPU1|P11016|P54312	Silent	SNP	ENST00000303210.4	37	c.423C>T	CCDS5703.1																																																																																				0.657	GNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268391.2	NM_005273		4	128	0	0	0	0.150653	0	4	128					T	100275276	C	T	100275276	2	4	35	1	0	0	0	0	0	0	0	1	6517	726	26	3		3	GNB2	7	100275276	Silent	SNP	C	TCGA-CH-5769-01A-11D-1576-08	1177899	100275276	58863387	74	1811											
ORAI2	80228	broad.mit.edu	37	chr7	102087010	102087010	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagtaccagtacccgcggccGctgctgattgccttcagcgc	6	8	11	16	4	1	1	1	1	0	0	1	1	1	1	4	1	5	4	4	1	2	4	rs555846728	byFrequency	TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr7:102087010G>A	ENST00000356387.2	+	4	511	c.276G>A	c.(274-276)ccG>ccA	p.P92P	ORAI2_ENST00000473939.1_Silent_p.P92P|ORAI2_ENST00000478730.2_Silent_p.P92P|ORAI2_ENST00000488996.1_3'UTR|ORAI2_ENST00000403646.3_Silent_p.P92P	NM_001126340.1|NM_001271818.1|NM_001271819.1|NM_032831.3	NP_001119812.1|NP_001258747.1|NP_001258748.1|NP_116220.1	Q96SN7	ORAI2_HUMAN	ORAI calcium release-activated calcium modulator 2	92						growth cone (GO:0030426)|integral component of membrane (GO:0016021)		p.P92P(1)		autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(1)|lung(4)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	15						ACCCGCGGCCGCTGCTGATTG	0.652													g|||	2	0.000399361	0.0015	0	5008	,	,		17619	0		0	False		,,,				2504	0					ENST00000356387.2																			1	Substitution - coding silent(1)	p.P92P(1)	prostate(1)	autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(1)|lung(4)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	15						c.(274-276)ccG>ccA		ORAI calcium release-activated calcium modulator 2							56	50	52					7																	102087010		2203	4300	6503	SO:0001819	synonymous_variant	80228					integral to membrane	protein binding	g.chr7:102087010G>A	AF258552	CCDS5722.1	7q22.1	2007-08-14	2007-08-14	2007-08-14	ENSG00000160991	ENSG00000160991		"ORAI calcium release-activated calcium modulators"	21667	protein-coding gene	gene with protein product	"CAP-binding protein complex interacting protein 2"	610929	"chromosome 7 open reading frame 19", "transmembrane protein 142B"	C7orf19, TMEM142B		16582901	Standard	NM_001126340		Approved	CBCIP2, FLJ12474, FLJ14733, H_NH0514P08.8	uc003uzj.3	Q96SN7	OTTHUMG00000157722	ENST00000356387.2:c.276G>A	7.37:g.102087010G>A						ORAI2_ENST00000478730.1_Silent_p.P92P|ORAI2_ENST00000488996.1_3'UTR|ORAI2_ENST00000403646.3_Silent_p.P92P|ORAI2_ENST00000473939.1_Silent_p.P92P	p.P92P	NM_001126340.1|NM_001271818.1|NM_001271819.1|NM_032831.3	NP_001119812.1|NP_001258747.1|NP_001258748.1|NP_116220.1	Q96SN7	ORAI2_HUMAN			4	511	+			92					Q6IA68|Q8WY94|Q9H9Y3	Silent	SNP	ENST00000356387.2	37	c.276G>A	CCDS5722.1																																																																																				0.652	ORAI2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349509.2	NM_032831		4	96	0	0	0	0.184627	0	4	96					A	102087010	G	A	102087010	2	1	35	1	0	0	0	0	0	0	0	1	11258	1074	38	1		1	ORAI2	7	102087010	Silent	SNP	G	TCGA-CH-5769-01A-11D-1576-08	1811734	102087010	57051653	75	1812											
TSGA14	95681	broad.mit.edu	37	chr7	130041784	130041785	+	Frame_Shift_Del	DEL	TG	TG	-																															cagagttgcaattgggtaacTgtaagctgcaaagagaagaa																										TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr7:130041784_130041785delTG	ENST00000223208.5	-	8	849_850	c.579_580delCA	c.(577-582)tacagtfs	p.YS193fs	CEP41_ENST00000541543.1_Frame_Shift_Del_p.YS177fs|CEP41_ENST00000343969.5_Frame_Shift_Del_p.YS193fs	NM_001257158.1|NM_018718.2	NP_001244087.1|NP_061188.1	Q9BYV8	CEP41_HUMAN	centrosomal protein 41kDa	193	Rhodanese. {ECO:0000255|PROSITE- ProRule:PRU00173}.				cilium assembly (GO:0042384)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|protein polyglutamylation (GO:0018095)|protein transport (GO:0015031)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytosol (GO:0005829)|membrane (GO:0016020)|primary cilium (GO:0072372)											ATTGGGTAACTGTAAGCTGCAA	0.342																																						ENST00000223208.4																			0											c.(577-582)tagtfs		centrosomal protein 41kDa																																				SO:0001589	frameshift_variant	95681				G2/M transition of mitotic cell cycle	centrosome|cytosol		g.chr7:130041784_130041785delTG	AJ278890	CCDS5821.1, CCDS59078.1, CCDS59079.1, CCDS59080.1	7q32	2014-02-20	2011-10-04	2011-10-04	ENSG00000106477	ENSG00000106477			12370	protein-coding gene	gene with protein product		610523	"testis specific, 14"	TSGA14		14654843, 22246503	Standard	NM_018718		Approved	DKFZp762H1311, FLJ22445, JBTS15	uc003vpz.4	Q9BYV8	OTTHUMG00000157823	ENST00000223208.5:c.579_580delCA	7.37:g.130041784_130041785delTG	ENSP00000223208:p.Tyr193fs					CEP41_ENST00000541543.1_Frame_Shift_Del_p.YS177fs|CEP41_ENST00000343969.5_Frame_Shift_Del_p.YS193fs	p.YS193fs	NM_001257158.1|NM_018718.2	NP_001244087.1|NP_061188.1	Q9BYV8	CEP41_HUMAN			8	849_850	-			193			Rhodanese.		A4D1M0|B4DQ35|F5H0V6|Q7Z496|Q86TM1|Q8NFU8|Q9H6A3|Q9NPV3	Frame_Shift_Del	DEL	ENST00000223208.5	37	c.579_580delCA	CCDS5821.1																																																																																				0.342	CEP41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349702.2	NM_018718		7	86						7	86	---	---	---	---	-	130041785	TG	-	130041784	7	5	35	1	0	1	0	1	0	0	0	0	16617	1580	55	0	557	0	TSGA14	7	130041784	Frame_Shift_Del	DEL	TG	TCGA-CH-5769-01A-11D-1576-08	27954774	130041784	29096879	76	1813											
OR2A25	392138	broad.mit.edu	37	chr7	143771567	143771567	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagatgctggtgaacctcctGcatccagccaagcccatctc	9	8	8	16	0	1	2	0	1	1	1	4	2	3	2	5	1	5	2	5	1	2	0			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr7:143771567G>A	ENST00000408898.2	+	1	293	c.255G>A	c.(253-255)ctG>ctA	p.L85L		NM_001004488.1	NP_001004488.1	A4D2G3	O2A25_HUMAN	olfactory receptor, family 2, subfamily A, member 25	85						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L85L(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(16)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	24	Melanoma(164;0.0783)					TGAACCTCCTGCATCCAGCCA	0.552																																						ENST00000408898.2																			1	Substitution - coding silent(1)	p.L85L(1)	prostate(1)	endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(16)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	24						c.(253-255)ctG>ctA		olfactory receptor, family 2, subfamily A, member 25							76	81	79					7																	143771567		2203	4300	6503	SO:0001819	synonymous_variant	392138				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr7:143771567G>A		CCDS43669.1	7q35	2012-08-09		2004-03-10	ENSG00000221933	ENSG00000221933		"GPCR / Class A : Olfactory receptors"	19562	protein-coding gene	gene with protein product				OR2A25P, OR2A27			Standard	NM_001004488		Approved		uc011ktx.2	A4D2G3	OTTHUMG00000158013	ENST00000408898.2:c.255G>A	7.37:g.143771567G>A							p.L85L	NM_001004488.1	NP_001004488.1	A4D2G3	O2A25_HUMAN			1	293	+	Melanoma(164;0.0783)		85					B2RNC9	Silent	SNP	ENST00000408898.2	37	c.255G>A	CCDS43669.1																																																																																				0.552	OR2A25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350000.1			7	122	0	0	0	0.27861	0	7	122					A	143771567	G	A	143771567	2	1	35	1	0	0	0	0	0	0	0	1	10978	1306	46	3		3	OR2A25	7	143771567	Silent	SNP	G	TCGA-CH-5769-01A-11D-1576-08	13729783	143771567	15367096	77	1814											
GALNT11	63917	broad.mit.edu	37	chr7	151798006	151798006	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gccagacacaaggaatgcagCgtatgtgccttatcggattt	11	10	11	9	2	0	1	0	0	0	1	1	3	0	3	2	2	3	2	2	2	4	3			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr7:151798006C>T	ENST00000434507.1	+	5	856	c.419C>T	c.(418-420)gCa>gTa	p.A140V	GALNT11_ENST00000422997.2_Intron|GALNT11_ENST00000482812.1_Intron|GALNT11_ENST00000320311.2_Splice_Site_p.A140V|GALNT11_ENST00000430044.2_Splice_Site_p.A140V|GALNT11_ENST00000415421.1_Splice_Site_p.A140V|GALNT11_ENST00000452146.2_Splice_Site_p.A59V			Q8NCW6	GLT11_HUMAN	polypeptide N-acetylgalactosaminyltransferase 11	140					cellular protein metabolic process (GO:0044267)|cilium morphogenesis (GO:0060271)|determination of left/right symmetry (GO:0007368)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein O-linked glycosylation via threonine (GO:0018243)|regulation of Notch signaling pathway (GO:0008593)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|Notch binding (GO:0005112)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|prostate(5)|skin(2)	27	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.214)	OV - Ovarian serous cystadenocarcinoma(82;0.00168)	UCEC - Uterine corpus endometrioid carcinoma (81;0.177)|BRCA - Breast invasive adenocarcinoma(188;0.0932)		AGGAATGCAGCGTATGTGCCT	0.443																																						ENST00000434507.1																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|prostate(5)|skin(2)	27						c.e5+1		UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 11 (GalNAc-T11)							161	141	148					7																	151798006		2203	4300	6503	SO:0001630	splice_region_variant	63917					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr7:151798006C>T	AC006017	CCDS5930.1	7q36.1	2014-05-09	2014-05-09		ENSG00000178234	ENSG00000178234	2.4.1.41	"Glycosyltransferase family 2 domain containing"	19875	protein-coding gene	gene with protein product	"polypeptide GalNAc transferase 11"	615130	"UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 11 (GalNAc-T11)"			11925450	Standard	NM_022087		Approved	GalNAc-T11	uc010lqg.1	Q8NCW6	OTTHUMG00000157251	ENST00000434507.1:c.419+1C>T	7.37:g.151798006C>T						GALNT11_ENST00000422997.2_Intron|GALNT11_ENST00000482812.1_Intron|GALNT11_ENST00000415421.1_Splice_Site_p.A140_splice|GALNT11_ENST00000320311.2_Splice_Site_p.A140_splice|GALNT11_ENST00000452146.2_Splice_Site_p.A59_splice|GALNT11_ENST00000430044.2_Splice_Site_p.A140_splice	p.A140_splice			Q8NCW6	GLT11_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00168)	UCEC - Uterine corpus endometrioid carcinoma (81;0.177)|BRCA - Breast invasive adenocarcinoma(188;0.0932)	5	856	+	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.214)	140					B3KWF4|Q6PCD1|Q9H6C2|Q9H6Z5|Q9UDR8	Splice_Site	SNP	ENST00000434507.1	37	c.419_splice	CCDS5930.1	.	.	.	.	.	.	.	.	.	.	C	11.18	1.562189	0.27915	.	.	ENSG00000178234	ENST00000430044;ENST00000452146;ENST00000443352;ENST00000423337;ENST00000434507;ENST00000415421;ENST00000320311;ENST00000419245;ENST00000447796	T;T;T;T;T;T;T;T	0.58940	0.3;0.3;0.94;0.3;0.3;0.3;0.3;0.95	5.06	-0.265	0.12946	.	0.503297	0.22270	N	0.062272	T	0.34600	0.0903	N	0.25286	0.73	0.80722	D	1	B;B;B	0.14438	0.0;0.01;0.0	B;B;B	0.08055	0.001;0.003;0.0	T	0.05632	-1.0873	10	0.30078	T	0.28	.	5.5889	0.17289	0.5592:0.2611:0.0:0.1797	.	59;140;140	B7Z5G5;Q8NCW6-2;Q8NCW6	.;.;GLT11_HUMAN	V	140;59;140;131;140;140;140;140;140	ENSP00000395122:A140V;ENSP00000393399:A59V;ENSP00000393892:A131V;ENSP00000416787:A140V;ENSP00000410093:A140V;ENSP00000315835:A140V;ENSP00000397581:A140V;ENSP00000412142:A140V	ENSP00000315835:A140V	A	+	2	0	GALNT11	151428939	1.000000	0.71417	0.886000	0.34754	0.672000	0.39443	1.889000	0.39718	0.484000	0.27630	0.655000	0.94253	GCA		0.443	GALNT11-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348184.1	NM_022087	Missense_Mutation	6	178	0	0	0	0.307466	0	6	178					T	151798006	C	T	151798006	5	4	35	1	0	0	0	0	0	0	1	0	6209	782	27	1	425	1	GALNT11	7	151798006	Splice_Site	SNP	C	TCGA-CH-5769-01A-11D-1576-08	8026439	151798006	7340657	78	1815											
DLGAP2	9228	broad.mit.edu	37	chr8	1616604	1616604	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcaccgaatccacccaggaCgcctaccaggacagccgcgc	11	2	10	18	4	0	0	0	0	0	0	1	3	1	2	6	2	3	1	6	2	2	1	rs373983764		TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr8:1616604C>T	ENST00000421627.2	+	6	1814	c.1680C>T	c.(1678-1680)gaC>gaT	p.D560D		NM_004745.3	NP_004736.2	Q9P1A6	DLGP2_HUMAN	discs, large (Drosophila) homolog-associated protein 2	639					neuron-neuron synaptic transmission (GO:0007270)	cell junction (GO:0030054)|neurofilament (GO:0005883)|postsynaptic membrane (GO:0045211)				breast(1)|endometrium(6)|lung(31)|prostate(3)	41		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)		CCACCCAGGACGCCTACCAGG	0.632																																						ENST00000421627.2																			0				breast(1)|endometrium(6)|lung(31)|prostate(3)	41						c.(1678-1680)gaC>gaT		discs, large (Drosophila) homolog-associated protein 2		C		1,4097		0,1,2048	13	18	17		1680	-6.6	0.9	8		17	0,8388		0,0,4194	no	coding-synonymous	DLGAP2	NM_004745.3		0,1,6242	TT,TC,CC		0.0,0.0244,0.0080		560/976	1616604	1,12485	2049	4194	6243	SO:0001819	synonymous_variant	9228				neuron-neuron synaptic transmission	cell junction|neurofilament|postsynaptic density|postsynaptic membrane	protein binding	g.chr8:1616604C>T	AB000275	CCDS47760.1, CCDS75689.1	8p23	2007-12-06	2001-11-28		ENSG00000198010	ENSG00000198010			2906	protein-coding gene	gene with protein product		605438	"discs, large (Drosophila) homolog-associated protein 2"			9286858, 10854099	Standard	NM_004745		Approved	DAP-2	uc003wpl.4	Q9P1A6	OTTHUMG00000163599	ENST00000421627.2:c.1680C>T	8.37:g.1616604C>T							p.D560D	NM_004745.3	NP_004736.2	Q9P1A6	DLGP2_HUMAN		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)	6	1814	+		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)	639					A1QCF8|A1QCF9|A5D8Y2|O14488|O14664|Q9P1A7	Silent	SNP	ENST00000421627.2	37	c.1680C>T	CCDS47760.1	.	.	.	.	.	.	.	.	.	.	C	9.611	1.131372	0.21041	2.44E-4	0.0	ENSG00000198010	ENST00000520901	.	.	.	5.53	-6.62	0.01813	.	.	.	.	.	T	0.63651	0.2529	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.67055	-0.5767	4	.	.	.	-9.65	16.6959	0.85335	0.0:0.4428:0.0:0.5572	.	.	.	.	M	577	.	.	T	+	2	0	DLGAP2	1604011	0.001000	0.12720	0.906000	0.35671	0.983000	0.72400	-1.701000	0.01903	-1.198000	0.02669	-1.152000	0.01820	ACG		0.632	DLGAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374478.1	NM_004745		4	20	0	0	0	0.184627	0	4	20					T	1616604	C	T	1616604	2	4	35	1	0	0	0	0	0	0	0	1	4560	535	19	1		1	DLGAP2	8	1616604	Silent	SNP	C	TCGA-CH-5769-01A-11D-1576-08		1616604	144747418	79	1816											
PPP1R3B	79660	broad.mit.edu	37	chr8	8998482	8998482	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ggatgatcctatagttcttgCctctgttgctgtcccagtac	6	15	9	11	0	2	1	0	1	2	0	4	2	4	2	3	1	3	4	3	1	3	6			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr8:8998482C>T	ENST00000310455.3	-	2	830	c.680G>A	c.(679-681)gGc>gAc	p.G227D	PPP1R3B_ENST00000519699.1_Missense_Mutation_p.G227D|RP11-10A14.3_ENST00000520017.1_RNA|RP11-10A14.3_ENST00000522057.1_RNA	NM_001201329.1|NM_024607.3	NP_001188258.1|NP_078883.2	Q86XI6	PPR3B_HUMAN	protein phosphatase 1, regulatory subunit 3B	227	CBM21. {ECO:0000255|PROSITE- ProRule:PRU00491}.				glycogen metabolic process (GO:0005977)|regulation of glycogen biosynthetic process (GO:0005979)|regulation of glycogen catabolic process (GO:0005981)	glycogen granule (GO:0042587)|intracellular membrane-bounded organelle (GO:0043231)|protein phosphatase type 1 complex (GO:0000164)	protein phosphatase regulator activity (GO:0019888)	p.G227D(2)		endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	12				COAD - Colon adenocarcinoma(149;0.0717)|READ - Rectum adenocarcinoma(644;0.241)		ATAGTTCTTGCCTCTGTTGCT	0.483																																						ENST00000310455.3																			2	Substitution - Missense(2)	p.G227D(2)	prostate(2)	endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	12						c.(679-681)gGc>gAc		protein phosphatase 1, regulatory subunit 3B							204	187	193					8																	8998482		2203	4300	6503	SO:0001583	missense	79660				glycogen metabolic process			g.chr8:8998482C>T	AK024067	CCDS5973.1	8p23.1	2012-04-17	2011-10-04		ENSG00000173281	ENSG00000173281		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	14942	protein-coding gene	gene with protein product	"PP1 subunit R4", "hepatic glycogen-targeting subunit, G(L)"	610541	"protein phosphatase 1, regulatory (inhibitor) subunit 3B"			11948623, 17555403	Standard	NM_024607		Approved	GL, FLJ14005, PPP1R4	uc003wsn.4	Q86XI6	OTTHUMG00000129329	ENST00000310455.3:c.680G>A	8.37:g.8998482C>T	ENSP00000308318:p.Gly227Asp					PPP1R3B_ENST00000519699.1_Missense_Mutation_p.G227D	p.G227D	NM_001201329.1|NM_024607.3	NP_001188258.1|NP_078883.2	Q86XI6	PPR3B_HUMAN		COAD - Colon adenocarcinoma(149;0.0717)|READ - Rectum adenocarcinoma(644;0.241)	2	830	-			227			CBM21.		B3KTV3|Q9H812	Missense_Mutation	SNP	ENST00000310455.3	37	c.680G>A	CCDS5973.1	.	.	.	.	.	.	.	.	.	.	C	25.8	4.676479	0.88445	.	.	ENSG00000173281	ENST00000310455;ENST00000519699	T;T	0.66280	-0.2;-0.2	5.93	5.93	0.95920	Putative phosphatase regulatory subunit (2);	0.000000	0.85682	D	0.000000	D	0.82907	0.5139	M	0.86420	2.815	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.84325	0.0518	10	0.62326	D	0.03	-53.059	19.3319	0.94293	0.0:1.0:0.0:0.0	.	227	Q86XI6	PPR3B_HUMAN	D	227	ENSP00000308318:G227D;ENSP00000428642:G227D	ENSP00000308318:G227D	G	-	2	0	PPP1R3B	9035892	1.000000	0.71417	0.989000	0.46669	0.713000	0.41058	7.818000	0.86416	2.815000	0.96918	0.561000	0.74099	GGC		0.483	PPP1R3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251472.1	NM_024607		19	128	0	0	0	0.575678	0	19	128					T	8998482	C	T	8998482	3	4	35	1	0	0	0	0	1	0	0	0	12372	739	26	3	181	3	PPP1R3B	8	8998482	Missense_Mutation	SNP	C	TCGA-CH-5769-01A-11D-1576-08	7381878	8998482	137365540	80	1817											
DLC1	10395	broad.mit.edu	37	chr8	12947960	12947960	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cggtataggaattacgacatCggctcatttcctcgggaacc	10	10	10	11	4	1	0	1	0	0	0	4	3	2	2	2	4	2	2	2	4	5	4	rs200504821		TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr8:12947960C>T	ENST00000276297.4	-	15	4284	c.3875G>A	c.(3874-3876)cGa>cAa	p.R1292Q	DLC1_ENST00000510318.1_5'UTR|DLC1_ENST00000358919.2_Missense_Mutation_p.R855Q|DLC1_ENST00000512044.2_Missense_Mutation_p.R889Q|DLC1_ENST00000520226.1_Missense_Mutation_p.R781Q	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN	DLC1 Rho GTPase activating protein	1292					actin cytoskeleton organization (GO:0030036)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|focal adhesion assembly (GO:0048041)|forebrain development (GO:0030900)|heart morphogenesis (GO:0003007)|hindbrain morphogenesis (GO:0021575)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of stress fiber assembly (GO:0051497)|neural tube closure (GO:0001843)|positive regulation of execution phase of apoptosis (GO:1900119)|positive regulation of protein dephosphorylation (GO:0035307)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	lipid binding (GO:0008289)|Rho GTPase activator activity (GO:0005100)|SH2 domain binding (GO:0042169)	p.R1292Q(2)		NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						ATTACGACATCGGCTCATTTC	0.512																																						ENST00000276297.4																			2	Substitution - Missense(2)	p.R1292Q(2)	prostate(2)	NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						c.(3874-3876)cGa>cAa		deleted in liver cancer 1		C	GLN/ARG,GLN/ARG,GLN/ARG	0,4406		0,0,2203	91	81	84		2342,2564,3875	4.4	1	8		84	2,8598	2.2+/-6.3	0,2,4298	yes	missense,missense,missense	DLC1	NM_001164271.1,NM_006094.4,NM_182643.2	43,43,43	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	benign,benign,benign	781/1018,855/1092,1292/1529	12947960	2,13004	2203	4300	6503	SO:0001583	missense	10395				actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding	g.chr8:12947960C>T	AF035119	CCDS5989.1, CCDS5990.1, CCDS5991.1, CCDS5991.2, CCDS55201.1	8p22	2014-06-20	2014-06-20		ENSG00000164741	ENSG00000164741		"Rho GTPase activating proteins", "StAR-related lipid transfer (START) domain containing"	2897	protein-coding gene	gene with protein product	"StAR-related lipid transfer (START) domain containing 12"	604258	"deleted in liver cancer 1"			9605766, 11214970	Standard	NM_182643		Approved	HP, ARHGAP7, STARD12, DLC-1, p122-RhoGAP	uc003wwm.2	Q96QB1	OTTHUMG00000090825	ENST00000276297.4:c.3875G>A	8.37:g.12947960C>T	ENSP00000276297:p.Arg1292Gln					DLC1_ENST00000520226.1_Missense_Mutation_p.R781Q|DLC1_ENST00000358919.2_Missense_Mutation_p.R855Q|DLC1_ENST00000512044.2_Missense_Mutation_p.R889Q|DLC1_ENST00000510318.1_5'UTR	p.R1292Q	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN			15	4284	-			1292					B4DR10|B8PTI0|E9PDZ8|E9PF76|E9PGY9|O14868|O43199|Q7Z5R8|Q86UC6|Q9C0E0|Q9H7A2	Missense_Mutation	SNP	ENST00000276297.4	37	c.3875G>A	CCDS5989.1	.	.	.	.	.	.	.	.	.	.	C	6.443	0.449798	0.12223	0.0	2.33E-4	ENSG00000164741	ENST00000276297;ENST00000358919;ENST00000510318;ENST00000512044;ENST00000520226	T;T;T;T	0.04917	3.75;3.53;3.53;3.53	5.32	4.45	0.53987	.	0.216448	0.41500	D	0.000868	T	0.02380	0.0073	N	0.03268	-0.37	0.80722	D	1	B;B;B	0.22346	0.03;0.007;0.068	B;B;B	0.12837	0.004;0.003;0.008	T	0.34079	-0.9843	10	0.02654	T	1	.	9.7963	0.40737	0.0:0.7861:0.0:0.2139	.	1292;889;855	Q96QB1;E9PDZ8;Q96QB1-1	RHG07_HUMAN;.;.	Q	1292;855;231;889;781	ENSP00000276297:R1292Q;ENSP00000351797:R855Q;ENSP00000422595:R889Q;ENSP00000428028:R781Q	ENSP00000276297:R1292Q	R	-	2	0	DLC1	12992331	0.979000	0.34478	0.991000	0.47740	0.972000	0.66771	2.439000	0.44846	1.635000	0.50512	0.655000	0.94253	CGA		0.512	DLC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207632.2	NM_182643, NM_006094		4	124	0	0	0	0.150653	0	4	124					T	12947960	C	T	12947960	3	4	35	1	0	0	0	0	1	0	0	0	4550	884	31	2	727	2	DLC1	8	12947960	Missense_Mutation	SNP	C	TCGA-CH-5769-01A-11D-1576-08	3949478	12947960	133416062	81	1818											
BMP1	649	broad.mit.edu	37	chr8	22051965	22051965	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgtgtccccacagccatctgCgggggtgatgtgaaaaagga	10	8	14	9	1	1	2	0	2	1	0	2	3	2	3	3	3	2	0	3	3	2	0	rs538422794		TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr8:22051965C>T	ENST00000306385.5	+	11	1975	c.1305C>T	c.(1303-1305)tgC>tgT	p.C435C	BMP1_ENST00000306349.8_Silent_p.C435C|BMP1_ENST00000354870.5_3'UTR|BMP1_ENST00000397816.3_Silent_p.C435C|BMP1_ENST00000397814.3_Silent_p.C435C	NM_006129.4	NP_006120.1	P13497	BMP1_HUMAN	bone morphogenetic protein 1	435	CUB 2. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cartilage condensation (GO:0001502)|cell differentiation (GO:0030154)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|lipoprotein metabolic process (GO:0042157)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)|positive regulation of cartilage development (GO:0061036)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|membrane-bounded vesicle (GO:0031988)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|peptidase activity (GO:0008233)|zinc ion binding (GO:0008270)	p.C435C(1)		breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(3)	30				Colorectal(74;0.00229)|COAD - Colon adenocarcinoma(73;0.0661)|READ - Rectum adenocarcinoma(644;0.11)		CAGCCATCTGCGGGGGTGATG	0.587													C|||	1	0.000199681	0	0.0014	5008	,	,		17389	0		0	False		,,,				2504	0					ENST00000306385.5																			1	Substitution - coding silent(1)	p.C435C(1)	prostate(1)	breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(3)	30						c.(1303-1305)tgC>tgT		bone morphogenetic protein 1							69	68	68					8																	22051965		2203	4300	6503	SO:0001819	synonymous_variant	649				cartilage condensation|cell differentiation|lipid metabolic process|lipoprotein metabolic process|ossification|positive regulation of cartilage development|proteolysis	extracellular space	calcium ion binding|cytokine activity|growth factor activity|metalloendopeptidase activity|zinc ion binding	g.chr8:22051965C>T		CCDS6026.1, CCDS34856.1	8p21	2013-02-06	2004-08-09		ENSG00000168487	ENSG00000168487	3.4.24.19	"Bone morphogenetic proteins"	1067	protein-coding gene	gene with protein product	"procollagen C-endopeptidase"	112264	"procollagen C-endopeptidase"	PCOLC		2004778	Standard	NM_006129		Approved		uc003xbg.3	P13497	OTTHUMG00000097761	ENST00000306385.5:c.1305C>T	8.37:g.22051965C>T						BMP1_ENST00000306349.8_Silent_p.C435C|BMP1_ENST00000397814.3_Silent_p.C435C|BMP1_ENST00000354870.5_3'UTR|BMP1_ENST00000397816.3_Silent_p.C435C	p.C435C	NM_006129.4	NP_006120.1	P13497	BMP1_HUMAN		Colorectal(74;0.00229)|COAD - Colon adenocarcinoma(73;0.0661)|READ - Rectum adenocarcinoma(644;0.11)	11	1975	+			435			CUB 2.		A8K6F5|B2RN46|D3DSR0|Q13292|Q13872|Q14874|Q99421|Q99422|Q99423|Q9UL38	Silent	SNP	ENST00000306385.5	37	c.1305C>T	CCDS6026.1																																																																																				0.587	BMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214995.2	NM_006132		7	64	0	0	0	0.307466	0	7	64					T	22051965	C	T	22051965	2	4	35	1	0	0	0	0	0	0	0	1	1456	776	27	1		1	BMP1	8	22051965	Silent	SNP	C	TCGA-CH-5769-01A-11D-1576-08	9104005	22051965	124312057	82	1819											
SORBS3	10174	broad.mit.edu	37	chr8	22415644	22415644	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgcattttctgatcccagagCgttgacagacccagagactg	10	10	10	11	1	1	5	0	2	1	3	2	6	2	5	2	0	2	2	2	0	0	3	rs376902116		TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr8:22415644C>T	ENST00000240123.7	+	5	800	c.417C>T	c.(415-417)agC>agT	p.S139S	SORBS3_ENST00000523402.1_Silent_p.S139S	NM_005775.4	NP_005766.3	O60504	VINEX_HUMAN	sorbin and SH3 domain containing 3	139	SoHo. {ECO:0000255|PROSITE- ProRule:PRU00195}.				actin filament organization (GO:0007015)|cell adhesion (GO:0007155)|cell-substrate adhesion (GO:0031589)|muscle contraction (GO:0006936)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cytoskeleton organization (GO:0051495)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of stress fiber assembly (GO:0051496)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)|vinculin binding (GO:0017166)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(9)	18		Prostate(55;0.0421)|Breast(100;0.102)		BRCA - Breast invasive adenocarcinoma(99;0.00566)|Colorectal(74;0.0146)|COAD - Colon adenocarcinoma(73;0.061)		GATCCCAGAGCGTTGACAGAC	0.512																																						ENST00000240123.7																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(9)	18						c.(415-417)agC>agT		sorbin and SH3 domain containing 3							119	122	121					8																	22415644		2203	4300	6503	SO:0001819	synonymous_variant	10174				muscle contraction|positive regulation of stress fiber assembly	cytoskeleton|cytosol|nucleus	protein binding|structural constituent of cytoskeleton|vinculin binding	g.chr8:22415644C>T		CCDS6031.1	8p21.3	2008-02-05			ENSG00000120896	ENSG00000120896			30907	protein-coding gene	gene with protein product		610795				9885244, 12510380	Standard	NM_001018003		Approved	SCAM-1, SH3D4, vinexin	uc003xbv.3	O60504	OTTHUMG00000131728	ENST00000240123.7:c.417C>T	8.37:g.22415644C>T						SORBS3_ENST00000523402.1_Silent_p.S139S	p.S139S	NM_005775.4	NP_005766.3	O60504	VINEX_HUMAN		BRCA - Breast invasive adenocarcinoma(99;0.00566)|Colorectal(74;0.0146)|COAD - Colon adenocarcinoma(73;0.061)	5	800	+		Prostate(55;0.0421)|Breast(100;0.102)	139			SoHo.		Q5BJE4|Q6NX54|Q96FY4|Q9UQE4	Silent	SNP	ENST00000240123.7	37	c.417C>T	CCDS6031.1	.	.	.	.	.	.	.	.	.	.	T	11.90	1.776401	0.31411	.	.	ENSG00000120896	ENST00000520563;ENST00000524057	.	.	.	5.02	0.0758	0.14400	.	.	.	.	.	T	0.57213	0.2038	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.50083	-0.8869	4	.	.	.	-12.5574	9.7381	0.40401	0.0:0.5368:0.0:0.4632	.	.	.	.	C	94;76	.	.	R	+	1	0	SORBS3	22471589	0.785000	0.28726	0.994000	0.49952	0.980000	0.70556	-0.352000	0.07701	-0.170000	0.10816	-0.361000	0.07541	CGT		0.512	SORBS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254647.3	NM_005775		9	180	0	0	0	0.335167	0	9	180					T	22415644	C	T	22415644	2	4	35	1	0	0	0	0	0	0	0	1	14929	767	27	1		1	SORBS3	8	22415644	Silent	SNP	C	TCGA-CH-5769-01A-11D-1576-08	363679	22415644	123948378	83	1820											
PXDNL	137902	broad.mit.edu	37	chr8	52321017	52321017	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	taggattgattaatgtgtggCcaaatctaaaggctgcagta	13	12	11	5	0	1	1	0	1	1	0	1	2	1	2	1	3	1	3	1	3	6	5			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr8:52321017C>T	ENST00000356297.4	-	17	3267	c.3167G>A	c.(3166-3168)gGc>gAc	p.G1056D	PXDNL_ENST00000543296.1_Missense_Mutation_p.G1056D	NM_144651.4	NP_653252	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	1056					hydrogen peroxide catabolic process (GO:0042744)|oxidation-reduction process (GO:0055114)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	endonuclease activity (GO:0004519)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				TAATGTGTGGCCAAATCTAAA	0.493																																						ENST00000356297.4																			0				NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48						c.(3166-3168)gGc>gAc		peroxidasin homolog (Drosophila)-like							44	47	46					8																	52321017		1943	4154	6097	SO:0001583	missense	137902				hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity	g.chr8:52321017C>T		CCDS47855.1	8q11.21-q11.22	2013-02-18	2007-01-12		ENSG00000147485	ENSG00000147485		"Immunoglobulin superfamily / I-set domain containing"	26359	protein-coding gene	gene with protein product	"polysomal ribonuclease 1 homolog (Xenopus)"	615904	"peroxidasin homolog-like (Drosophila)"			22543864	Standard	NM_144651		Approved	FLJ25471, PMR1	uc003xqu.4	A1KZ92	OTTHUMG00000164244	ENST00000356297.4:c.3167G>A	8.37:g.52321017C>T	ENSP00000348645:p.Gly1056Asp					PXDNL_ENST00000543296.1_Missense_Mutation_p.G1056D	p.G1056D	NM_144651.4	NP_653252.3	A1KZ92	PXDNL_HUMAN			17	3267	-		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)	1056					B5ME43|B6CGZ3|H0YBM9|Q6ZMR2|Q96LH9	Missense_Mutation	SNP	ENST00000356297.4	37	c.3167G>A	CCDS47855.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.94|13.94	2.385883|2.385883	0.42308|0.42308	.|.	.|.	ENSG00000147485|ENSG00000147485	ENST00000522933|ENST00000356297;ENST00000543296	.|T;T	.|0.77750	.|-1.12;-1.12	3.82|3.82	3.82|3.82	0.43975|0.43975	.|.	.|0.000000	.|0.53938	.|D	.|0.000058	D|D	0.92440|0.92440	0.7600|0.7600	H|H	0.99042|0.99042	4.41|4.41	0.47621|0.47621	D|D	0.999471|0.999471	.|D	.|0.89917	.|1.0	.|D	.|0.97110	.|1.0	D|D	0.94805|0.94805	0.7974|0.7974	5|10	.|0.87932	.|D	.|0	.|.	13.1684|13.1684	0.59583|0.59583	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|1056	.|A1KZ92	.|PXDNL_HUMAN	T|D	175|1056	.|ENSP00000348645:G1056D;ENSP00000444865:G1056D	.|ENSP00000348645:G1056D	A|G	-|-	1|2	0|0	PXDNL|PXDNL	52483570|52483570	0.998000|0.998000	0.40836|0.40836	0.150000|0.150000	0.22450|0.22450	0.018000|0.018000	0.09664|0.09664	3.946000|3.946000	0.56644|0.56644	1.653000|1.653000	0.50694|0.50694	0.655000|0.655000	0.94253|0.94253	GCC|GGC		0.493	PXDNL-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377905.1	NM_144651		4	40	0	0	0	0.150653	0	4	40					T	52321017	C	T	52321017	3	4	35	1	0	0	0	0	1	0	0	0	12848	739	26	3	1252	3	PXDNL	8	52321017	Missense_Mutation	SNP	C	TCGA-CH-5769-01A-11D-1576-08	29905373	52321017	94043005	84	1821											
FAM164A	51101	broad.mit.edu	37	chr8	79629650	79629650	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ggaaacttaccaaaattctgCcatgagtgtgggactaaata	15	10	9	7	0	1	1	0	1	1	0	1	3	1	3	2	2	3	0	2	2	7	4			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr8:79629650C>T	ENST00000263849.4	+	9	1002	c.900C>T	c.(898-900)tgC>tgT	p.C300C	IL7_ENST00000519833.1_5'Flank	NM_016010.2	NP_057094.2	Q96GY0	ZC21A_HUMAN	zinc finger, C2HC-type containing 1A	300							metal ion binding (GO:0046872)										CAAAATTCTGCCATGAGTGTG	0.373																																						ENST00000263849.4																			0											c.(898-900)tgC>tgT		zinc finger, C2HC-type containing 1A							158	159	159					8																	79629650		2203	4300	6503	SO:0001819	synonymous_variant	51101							g.chr8:79629650C>T		CCDS6223.1	8q21.11	2013-01-10	2012-02-03	2012-02-03	ENSG00000104427	ENSG00000104427		"Zinc fingers, C2HC-type containing"	24277	protein-coding gene	gene with protein product			"chromosome 8 open reading frame 70", "family with sequence similarity 164, member A"	C8orf70, FAM164A		10810093	Standard	NM_016010		Approved	CGI-62	uc003ybd.3	Q96GY0	OTTHUMG00000164619	ENST00000263849.4:c.900C>T	8.37:g.79629650C>T							p.C300C	NM_016010.2	NP_057094.2	Q96GY0	F164A_HUMAN			9	1002	+			300					Q9Y372	Silent	SNP	ENST00000263849.4	37	c.900C>T	CCDS6223.1	.	.	.	.	.	.	.	.	.	.	C	8.816	0.936444	0.18206	.	.	ENSG00000104427	ENST00000519307	.	.	.	5.14	4.27	0.50696	.	.	.	.	.	T	0.60508	0.2274	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.58137	-0.7689	4	.	.	.	-8.4047	10.1636	0.42866	0.0:0.8462:0.0:0.1538	.	.	.	.	S	172	.	.	P	+	1	0	FAM164A	79792205	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.838000	0.39211	1.299000	0.44798	0.591000	0.81541	CCA		0.373	ZC2HC1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379423.2	NM_016010		8	243	0	0	0	0.307466	0	8	243					T	79629650	C	T	79629650	2	4	35	1	0	0	0	0	0	0	0	1	5478	747	26	3		3	FAM164A	8	79629650	Silent	SNP	C	TCGA-CH-5769-01A-11D-1576-08	27308633	79629650	66734372	85	1822											
VPS13B	157680	broad.mit.edu	37	chr8	100454735	100454735	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	agtaagaagttggtaccatgGacaaaccagcatgccgggaa	15	6	12	8	1	0	1	0	0	0	1	0	3	0	3	3	3	4	4	3	3	5	3			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr8:100454735G>A	ENST00000358544.2	+	23	3428	c.3317G>A	c.(3316-3318)gGa>gAa	p.G1106E	VPS13B_ENST00000395996.1_Missense_Mutation_p.G1106E|VPS13B_ENST00000357162.2_Missense_Mutation_p.G1106E	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	1106					protein transport (GO:0015031)			p.G1106E(2)		NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			TGGTACCATGGACAAACCAGC	0.428																																					Colon(161;2205 2542 7338 31318)	ENST00000395996.1																			2	Substitution - Missense(2)	p.G1106E(2)	prostate(2)	NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193						c.(3316-3318)gGa>gAa		vacuolar protein sorting 13 homolog B (yeast)							163	150	155					8																	100454735		2203	4300	6503	SO:0001583	missense	157680				protein transport			g.chr8:100454735G>A	AJ608772	CCDS6280.1, CCDS6281.1, CCDS6283.1, CCDS47903.1	8q22-q23	2014-09-17	2006-12-19	2005-04-08	ENSG00000132549	ENSG00000132549			2183	protein-coding gene	gene with protein product		607817	"Cohen syndrome 1"	CHS1, COH1		7920642, 15498460	Standard	NM_181661		Approved		uc003yiv.4	Q7Z7G8	OTTHUMG00000140383	ENST00000358544.2:c.3317G>A	8.37:g.100454735G>A	ENSP00000351346:p.Gly1106Glu					VPS13B_ENST00000358544.2_Missense_Mutation_p.G1106E|VPS13B_ENST00000357162.2_Missense_Mutation_p.G1106E	p.G1106E			Q7Z7G8	VP13B_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.00636)		23	3428	+	Breast(36;3.73e-07)		1106					C9JD30|Q709C6|Q709C7|Q7Z7G4|Q7Z7G5|Q7Z7G6|Q7Z7G7|Q8NB77|Q9NWV1|Q9Y4E7	Missense_Mutation	SNP	ENST00000358544.2	37	c.3317G>A	CCDS6280.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.381016	0.82792	.	.	ENSG00000132549	ENST00000357162;ENST00000358544;ENST00000395996	T;T;T	0.40476	1.03;1.03;1.03	5.71	5.71	0.89125	.	0.126149	0.53938	D	0.000048	T	0.56963	0.2021	L	0.32530	0.975	0.51233	D	0.999918	D;D;D;D	0.76494	0.997;0.999;0.995;0.982	D;D;P;P	0.76071	0.944;0.987;0.82;0.805	T	0.57774	-0.7753	10	0.66056	D	0.02	.	19.8633	0.96793	0.0:0.0:1.0:0.0	.	1105;1106;1106;1106	Q7Z7G8-6;Q7Z7G8-2;Q7Z7G8;Q7Z7G8-3	.;.;VP13B_HUMAN;.	E	1106	ENSP00000349685:G1106E;ENSP00000351346:G1106E;ENSP00000379318:G1106E	ENSP00000349685:G1106E	G	+	2	0	VPS13B	100523911	1.000000	0.71417	1.000000	0.80357	0.913000	0.54294	5.468000	0.66743	2.697000	0.92050	0.591000	0.81541	GGA		0.428	VPS13B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000277138.1	NM_184042		6	107	0	0	0	0.248553	0	6	107					A	100454735	G	A	100454735	3	1	35	1	0	0	0	0	1	0	0	0	17187	1174	41	3	3526	3	VPS13B	8	100454735	Missense_Mutation	SNP	G	TCGA-CH-5769-01A-11D-1576-08	20825085	100454735	45909287	86	1823											
FAM91A1	157769	broad.mit.edu	37	chr8	124799551	124799551	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgtctacaggacacacgaagCgcatcgcattcctgtttgac	10	10	9	12	3	1	1	0	1	1	0	3	3	2	2	1	1	2	3	1	1	2	3			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr8:124799551C>T	ENST00000334705.7	+	13	1375	c.1129C>T	c.(1129-1131)Cgc>Tgc	p.R377C	FAM91A1_ENST00000521166.1_Missense_Mutation_p.R377C	NM_144963.2	NP_659400	Q658Y4	F91A1_HUMAN	family with sequence similarity 91, member A1	377								p.R377C(1)		breast(4)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28	Lung NSC(37;8.76e-13)|Ovarian(258;0.00744)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00192)			ACACACGAAGCGCATCGCATT	0.388																																						ENST00000334705.7																			1	Substitution - Missense(1)	p.R377C(1)	prostate(1)	breast(4)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28						c.(1129-1131)Cgc>Tgc		family with sequence similarity 91, member A1							76	73	74					8																	124799551		1881	4110	5991	SO:0001583	missense	157769							g.chr8:124799551C>T	AK074370	CCDS6346.2	8q24.13	2005-10-04			ENSG00000176853	ENSG00000176853			26306	protein-coding gene	gene with protein product						12477932	Standard	XM_005250806		Approved	FLJ23790	uc003yqv.3	Q658Y4	OTTHUMG00000133021	ENST00000334705.7:c.1129C>T	8.37:g.124799551C>T	ENSP00000335082:p.Arg377Cys					FAM91A1_ENST00000521166.1_Missense_Mutation_p.R377C	p.R377C	NM_144963.2	NP_659400.2	Q658Y4	F91A1_HUMAN	STAD - Stomach adenocarcinoma(47;0.00192)		13	1375	+	Lung NSC(37;8.76e-13)|Ovarian(258;0.00744)|all_neural(195;0.0741)		377					B6YY23|Q658T5|Q8TE89	Missense_Mutation	SNP	ENST00000334705.7	37	c.1129C>T	CCDS6346.2	.	.	.	.	.	.	.	.	.	.	C	18.71	3.683049	0.68157	.	.	ENSG00000176853	ENST00000521166;ENST00000334705	T;T	0.60171	0.21;0.21	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	T	0.79834	0.4514	M	0.87381	2.88	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.66196	0.917;0.942	T	0.82754	-0.0301	10	0.87932	D	0	.	19.8193	0.96586	0.0:1.0:0.0:0.0	.	377;377	E7ER68;Q658Y4	.;F91A1_HUMAN	C	377	ENSP00000429491:R377C;ENSP00000335082:R377C	ENSP00000335082:R377C	R	+	1	0	FAM91A1	124868732	1.000000	0.71417	1.000000	0.80357	0.242000	0.25591	6.182000	0.71995	2.699000	0.92147	0.650000	0.86243	CGC		0.388	FAM91A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256607.1	NM_144963		12	85	0	0	0	0.435327	0	12	85					T	124799551	C	T	124799551	3	4	35	1	0	0	0	0	1	0	0	0	5651	768	27	1	1179	1	FAM91A1	8	124799551	Missense_Mutation	SNP	C	TCGA-CH-5769-01A-11D-1576-08	24344816	124799551	21564471	87	1824											
DNAJB5	25822	broad.mit.edu	37	chr9	34993411	34993411	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgctaagtgaccccaagaaaCggggcctgtatgaccagtat	12	8	11	10	1	0	3	0	2	0	1	0	3	0	3	4	2	2	3	4	2	5	3			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr9:34993411C>T	ENST00000541010.1	+	1	3193	c.181C>T	c.(181-183)Cgg>Tgg	p.R61W	DNAJB5_ENST00000454002.2_Missense_Mutation_p.R133W|DNAJB5_ENST00000453597.3_Missense_Mutation_p.R175W|DNAJB5_ENST00000335998.3_Missense_Mutation_p.R95W|DNAJB5_ENST00000545841.1_Missense_Mutation_p.R61W|DNAJB5_ENST00000312316.5_Missense_Mutation_p.R61W			O75953	DNJB5_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 5	61	J. {ECO:0000255|PROSITE- ProRule:PRU00286}.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|protein folding (GO:0006457)|response to unfolded protein (GO:0006986)	cytosol (GO:0005829)|nucleus (GO:0005634)	chaperone binding (GO:0051087)			kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	12			LUSC - Lung squamous cell carcinoma(32;0.00575)			CCCCAAGAAACGGGGCCTGTA	0.552																																						ENST00000541010.1																			0				kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	12						c.(181-183)Cgg>Tgg		DnaJ (Hsp40) homolog, subfamily B, member 5							109	112	111					9																	34993411		2203	4300	6503	SO:0001583	missense	25822				protein folding|response to unfolded protein		heat shock protein binding|unfolded protein binding	g.chr9:34993411C>T	AF088982	CCDS35007.1, CCDS47959.1, CCDS47960.1, CCDS47960.2	9p	2011-09-02			ENSG00000137094	ENSG00000137094		"Heat shock proteins / DNAJ (HSP40)"	14887	protein-coding gene	gene with protein product		611328				10570961, 11147971	Standard	NM_001135004		Approved	Hsc40	uc003zvs.4	O75953	OTTHUMG00000019840	ENST00000541010.1:c.181C>T	9.37:g.34993411C>T	ENSP00000443151:p.Arg61Trp					DNAJB5_ENST00000312316.5_Missense_Mutation_p.R61W|DNAJB5_ENST00000335998.3_Missense_Mutation_p.R95W|DNAJB5_ENST00000545841.1_Missense_Mutation_p.R61W|DNAJB5_ENST00000454002.2_Missense_Mutation_p.R133W|DNAJB5_ENST00000453597.3_Missense_Mutation_p.R175W	p.R61W			O75953	DNJB5_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00575)		1	3193	+			61			J.		B3KN14|B4DSA6|J3KQM9|J3KR08|Q5T656|Q8TDR7|Q96EM4	Missense_Mutation	SNP	ENST00000541010.1	37	c.181C>T	CCDS35007.1	.	.	.	.	.	.	.	.	.	.	C	17.96	3.516846	0.64634	.	.	ENSG00000137094	ENST00000453597;ENST00000335998;ENST00000378751;ENST00000312316;ENST00000541010;ENST00000454002;ENST00000545841;ENST00000539059;ENST00000443266	D;D;D;D;D;D;D;D	0.83419	-1.72;-1.72;-1.72;-1.72;-1.72;-1.72;-1.72;-1.72	5.31	4.39	0.52855	Heat shock protein DnaJ, N-terminal (4);Heat shock protein DnaJ, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.93812	0.8021	H	0.97440	4.005	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	D	0.95066	0.8200	10	0.87932	D	0	.	12.2005	0.54321	0.3097:0.6903:0.0:0.0	.	133;61	B4DSA6;O75953	.;DNJB5_HUMAN	W	175;95;61;61;61;133;61;97;61	ENSP00000404079:R175W;ENSP00000337626:R95W;ENSP00000312517:R61W;ENSP00000443151:R61W;ENSP00000413684:R133W;ENSP00000441999:R61W;ENSP00000445536:R97W;ENSP00000396332:R61W	ENSP00000312517:R61W	R	+	1	2	DNAJB5	34983411	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.742000	0.55097	1.413000	0.46997	0.561000	0.74099	CGG		0.552	DNAJB5-008	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401397.1			5	301	0	0	0	0.184627	0	5	301					T	34993411	C	T	34993411	3	4	35	1	0	0	0	0	1	0	0	0	4623	527	19	1	403	1	DNAJB5	9	34993411	Missense_Mutation	SNP	C	TCGA-CH-5769-01A-11D-1576-08		34993411	106220020	88	1825											
FAM75A6	389730	broad.mit.edu	37	chr9	43625067	43625067	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagcatttgtccaactgccGtcatgagaccctgagcttca	9	10	8	14	1	2	2	2	2	0	1	3	3	3	2	4	0	4	2	4	0	1	2			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr9:43625067G>A	ENST00000332857.6	-	4	3648	c.3620C>T	c.(3619-3621)aCg>aTg	p.T1207M	SPATA31A6_ENST00000496386.1_5'Flank	NM_001145196.1	NP_001138668.1	Q5VVP1	S31A6_HUMAN	SPATA31 subfamily A, member 6	1207					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)		p.T1207M(1)									TCCAACTGCCGTCATGAGACC	0.468																																						ENST00000332857.6																			1	Substitution - Missense(1)	p.T1207M(1)	prostate(1)								c.(3619-3621)aCg>aTg		SPATA31 subfamily A, member 6							7	12	11					9																	43625067		592	1497	2089	SO:0001583	missense	389730							g.chr9:43625067G>A		CCDS75837.1	9p11.2	2012-10-15	2012-10-12	2012-10-12	ENSG00000185775	ENSG00000185775			32006	protein-coding gene	gene with protein product			"family with sequence similarity 75, member A6"	FAM75A6		20850414	Standard	NM_001145196		Approved	OTTHUMG00000013224	uc011lrb.2	Q5VVP1	OTTHUMG00000013224	ENST00000332857.6:c.3620C>T	9.37:g.43625067G>A	ENSP00000329825:p.Thr1207Met						p.T1207M	NM_001145196.1	NP_001138668.1					4	3648	-									Missense_Mutation	SNP	ENST00000332857.6	37	c.3620C>T	CCDS47973.1	.	.	.	.	.	.	.	.	.	.	G	10.41	1.342253	0.24339	.	.	ENSG00000185775	ENST00000332857	T	0.05447	3.44	2.44	-0.945	0.10388	.	0.553031	0.15327	N	0.268238	T	0.13200	0.0320	L	0.60067	1.865	0.09310	N	1	D	0.89917	1.0	D	0.72982	0.979	T	0.15578	-1.0432	10	0.59425	D	0.04	-6.9634	1.2939	0.02065	0.1401:0.2173:0.4207:0.2219	.	1207	Q5VVP1	F75A6_HUMAN	M	1207	ENSP00000329825:T1207M	ENSP00000329825:T1207M	T	-	2	0	FAM75A6	43565063	0.045000	0.20229	0.001000	0.08648	0.000000	0.00434	0.510000	0.22723	-0.167000	0.10871	-2.563000	0.00173	ACG		0.468	SPATA31A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036987.1	NM_001145196		31	438	0	0	0	0.779181	0	31	438					A	43625067	G	A	43625067	3	1	35	1	0	0	0	0	1	0	0	0	5622	1145	40	1	415	1	FAM75A6	9	43625067	Missense_Mutation	SNP	G	TCGA-CH-5769-01A-11D-1576-08	8631656	43625067	97588364	89	1826											
SLC35D2	11046	broad.mit.edu	37	chr9	99099021	99099021	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	caaaaaacaggaaagaagaaActgtaggataaacacaacat	24	4	7	6	0	0	2	0	0	0	2	0	4	0	4	0	2	4	1	0	2	10	2			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr9:99099021A>G	ENST00000253270.7	-	9	792	c.730T>C	c.(730-732)Ttt>Ctt	p.F244L	SLC35D2_ENST00000375259.4_Intron	NM_007001.2	NP_008932.2	Q76EJ3	S35D2_HUMAN	solute carrier family 35 (UDP-GlcNAc/UDP-glucose transporter), member D2	244					carbohydrate derivative transport (GO:1901264)|carbohydrate metabolic process (GO:0005975)|carbohydrate transport (GO:0008643)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|nucleotide transmembrane transport (GO:1901679)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	nucleotide-sugar transmembrane transporter activity (GO:0005338)			endometrium(3)|large_intestine(3)|lung(4)|skin(2)	12		Acute lymphoblastic leukemia(62;0.0167)				GAAAGAAGAAACTGTAGGATA	0.313																																						ENST00000253270.7																			0				endometrium(3)|large_intestine(3)|lung(4)|skin(2)	12						c.(730-732)Ttt>Ctt		solute carrier family 35 (UDP-GlcNAc/UDP-glucose transporter), member D2							58	51	54					9																	99099021		2194	4297	6491	SO:0001583	missense	11046					Golgi membrane|integral to membrane	nucleotide-sugar transmembrane transporter activity	g.chr9:99099021A>G	AB122077	CCDS6717.1, CCDS69625.1	9q22.33	2013-07-17	2013-07-17		ENSG00000130958	ENSG00000130958		"Solute carriers"	20799	protein-coding gene	gene with protein product		609182	"solute carrier family 35, member D2"			15607426	Standard	NM_007001		Approved	UGTrel8, SQV7L	uc004awc.3	Q76EJ3	OTTHUMG00000020293	ENST00000253270.7:c.730T>C	9.37:g.99099021A>G	ENSP00000253270:p.Phe244Leu					SLC35D2_ENST00000375259.4_Intron	p.F244L	NM_007001.2	NP_008932.2	Q76EJ3	S35D2_HUMAN			9	792	-		Acute lymphoblastic leukemia(62;0.0167)	244					O95454|Q498C1|Q75W21|Q7Z5X5	Missense_Mutation	SNP	ENST00000253270.7	37	c.730T>C	CCDS6717.1	.	.	.	.	.	.	.	.	.	.	A	24.9	4.576923	0.86645	.	.	ENSG00000130958	ENST00000253270	T	0.56444	0.46	4.66	4.66	0.58398	Domain of unknown function DUF250 (1);	0.054512	0.85682	N	0.000000	T	0.59390	0.2190	M	0.63843	1.955	0.80722	D	1	P	0.34934	0.476	P	0.47786	0.557	T	0.54316	-0.8312	10	0.16896	T	0.51	.	13.5352	0.61643	1.0:0.0:0.0:0.0	.	244	Q76EJ3	S35D2_HUMAN	L	244	ENSP00000253270:F244L	ENSP00000253270:F244L	F	-	1	0	SLC35D2	98138842	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.291000	0.72719	2.087000	0.62958	0.455000	0.32223	TTT		0.313	SLC35D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053261.1			3	8	0	0	0	0.115264	0	3	8					G	99099021	A	G	99099021	3	3	35	1	0	0	0	0	1	0	0	0	14582	43	2	4	299	4	SLC35D2	9	99099021	Missense_Mutation	SNP	A	TCGA-CH-5769-01A-11D-1576-08	55473954	99099021	42114410	90	1827											
ALG2	85365	broad.mit.edu	37	chr9	101980873	101980873	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	acatttagagatggatagagGacatcagggtctatgtgaga	14	10	13	4	0	2	3	1	1	1	3	2	7	2	5	0	3	0	0	0	3	3	4	rs201757938		TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr9:101980873G>A	ENST00000476832.1	-	2	655	c.594C>T	c.(592-594)gtC>gtT	p.V198V	ALG2_ENST00000319033.6_Silent_p.V105V	NM_033087.3	NP_149078.1	O75340	PDCD6_HUMAN	ALG2, alpha-1,3/1,6-mannosyltransferase	0					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|angiogenesis (GO:0001525)|apoptotic signaling pathway (GO:0097190)|cellular response to heat (GO:0034605)|intracellular protein transport (GO:0006886)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of TOR signaling (GO:0032007)|negative regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030948)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|proteolysis (GO:0006508)|response to calcium ion (GO:0051592)|vascular endothelial growth factor receptor-2 signaling pathway (GO:0036324)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	binding, bridging (GO:0060090)|calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|calcium-dependent protein binding (GO:0048306)|protein dimerization activity (GO:0046983)	p.V198V(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(11)|ovary(2)|prostate(2)	22		Acute lymphoblastic leukemia(62;0.0559)				ATGGATAGAGGACATCAGGGT	0.468																																						ENST00000476832.1																			1	Substitution - coding silent(1)	p.V198V(1)	prostate(1)	breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(11)|ovary(2)|prostate(2)	22						c.(592-594)gtC>gtT		ALG2, alpha-1,3/1,6-mannosyltransferase							118	119	118					9																	101980873		2203	4300	6503	SO:0001819	synonymous_variant	85365				dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein glycosylation in endoplasmic reticulum|protein N-linked glycosylation via asparagine|response to calcium ion	endoplasmic reticulum membrane|integral to membrane|membrane fraction|nucleus|perinuclear region of cytoplasm	alpha-1,3-mannosyltransferase activity|calcium-dependent protein binding|glycolipid 3-alpha-mannosyltransferase activity|protein anchor|protein heterodimerization activity|protein N-terminus binding	g.chr9:101980873G>A	AK027417	CCDS6739.1	9q31.1	2013-02-22	2013-02-22		ENSG00000119523	ENSG00000119523	2.4.1.132, 2.4.1.257	"Glycosyltransferase group 1 domain containing"	23159	protein-coding gene	gene with protein product		607905	"asparagine-linked glycosylation 2 homolog (yeast, alpha-1,3-mannosyltransferase)", "asparagine-linked glycosylation 2, alpha-1,3-mannosyltransferase homolog (S. cerevisiae)"			12684507	Standard	NR_024532		Approved	CDGIi, FLJ14511, hALPG2, NET38	uc004azf.3	Q9H553	OTTHUMG00000020355	ENST00000476832.1:c.594C>T	9.37:g.101980873G>A						ALG2_ENST00000319033.6_Silent_p.V105V	p.V198V	NM_033087.3	NP_149078.1	Q9H553	ALG2_HUMAN			2	655	-		Acute lymphoblastic leukemia(62;0.0559)	198					B2RD16|E7ESR3|Q2YDC2|Q5TZS0	Silent	SNP	ENST00000476832.1	37	c.594C>T	CCDS6739.1																																																																																				0.468	ALG2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215080.1	NM_033087		13	118	0	0	0	0.520397	0	13	118					A	101980873	G	A	101980873	2	1	35	1	0	0	0	0	0	0	0	1	519	1161	41	3		3	ALG2	9	101980873	Silent	SNP	G	TCGA-CH-5769-01A-11D-1576-08	2881852	101980873	39232558	91	1828											
ZNF462	58499	broad.mit.edu	37	chr9	109689585	109689585	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcagttgtgggagtgcttgTccactaccagaaaagacacc	11	9	11	10	0	1	2	1	0	0	2	2	3	2	3	3	1	2	2	3	1	3	3			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr9:109689585T>C	ENST00000277225.5	+	3	3681	c.3392T>C	c.(3391-3393)gTc>gCc	p.V1131A	ZNF462_ENST00000457913.1_Missense_Mutation_p.V1131A|ZNF462_ENST00000441147.2_5'Flank			Q96JM2	ZN462_HUMAN	zinc finger protein 462	1131					chromatin organization (GO:0006325)|negative regulation of DNA binding (GO:0043392)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.V1131A(1)		NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						GGAGTGCTTGTCCACTACCAG	0.532																																						ENST00000277225.5																			1	Substitution - Missense(1)	p.V1131A(1)	prostate(1)	NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						c.(3391-3393)gTc>gCc		zinc finger protein 462							93	97	95					9																	109689585		2203	4300	6503	SO:0001583	missense	58499				transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:109689585T>C	AB058706	CCDS35096.1	9q31.3	2008-02-05			ENSG00000148143	ENSG00000148143		"Zinc fingers, C2H2-type"	21684	protein-coding gene	gene with protein product							Standard	NM_021224		Approved	DKFZP762N2316, KIAA1803, Zfp462	uc004bcz.3	Q96JM2	OTTHUMG00000020438	ENST00000277225.5:c.3392T>C	9.37:g.109689585T>C	ENSP00000277225:p.Val1131Ala					ZNF462_ENST00000457913.1_Missense_Mutation_p.V1131A	p.V1131A			Q96JM2	ZN462_HUMAN			3	3681	+			1131					Q5T0T4|Q8N408	Missense_Mutation	SNP	ENST00000277225.5	37	c.3392T>C	CCDS35096.1	.	.	.	.	.	.	.	.	.	.	T	18.36	3.606799	0.66558	.	.	ENSG00000148143	ENST00000277225;ENST00000457913;ENST00000374686	T;T;T	0.10763	2.84;3.25;3.09	5.37	5.37	0.77165	Zinc finger, C2H2-like (1);	0.000000	0.85682	D	0.000000	T	0.27798	0.0684	L	0.54323	1.7	0.80722	D	1	D;D	0.67145	0.996;0.993	D;D	0.76071	0.987;0.967	T	0.00878	-1.1530	10	0.33141	T	0.24	.	15.3692	0.74548	0.0:0.0:0.0:1.0	.	1131;1131	Q96JM2-3;Q96JM2	.;ZN462_HUMAN	A	1131;1131;14	ENSP00000277225:V1131A;ENSP00000414570:V1131A;ENSP00000363818:V14A	ENSP00000277225:V1131A	V	+	2	0	ZNF462	108729406	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.933000	0.87642	2.033000	0.60031	0.459000	0.35465	GTC		0.532	ZNF462-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000053532.2	NM_021224		16	238	0	0	0	0.575678	0	16	238					C	109689585	T	C	109689585	3	2	35	1	0	0	0	0	1	0	0	0	17923	1667	58	4	3398	4	ZNF462	9	109689585	Missense_Mutation	SNP	T	TCGA-CH-5769-01A-11D-1576-08	7708712	109689585	31523846	92	1829											
TRIM32	22954	broad.mit.edu	37	chr9	119461051	119461051	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gggcctcacctgctaaacagCggggtcctgaggcagcctcc	7	6	13	15	1	1	1	1	1	0	0	3	1	3	1	5	4	4	2	5	4	2	1			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr9:119461051C>T	ENST00000450136.1	+	2	1191	c.1030C>T	c.(1030-1032)Cgg>Tgg	p.R344W	ASTN2_ENST00000373996.3_Intron|ASTN2_ENST00000361209.2_Intron|ASTN2_ENST00000361477.3_Intron|TRIM32_ENST00000373983.2_Missense_Mutation_p.R344W|ASTN2_ENST00000313400.4_Intron	NM_001099679.1|NM_012210.3	NP_001093149.1|NP_036342.2	Q13049	TRI32_HUMAN	tripartite motif containing 32	344					fat cell differentiation (GO:0045444)|innate immune response (GO:0045087)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902230)|negative regulation of viral release from host cell (GO:1902187)|negative regulation of viral transcription (GO:0032897)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cell motility (GO:2000147)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of neurogenesis (GO:0050769)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of proteolysis (GO:0045862)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of type I interferon production (GO:0032481)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of type I interferon production (GO:0032479)|response to tumor necrosis factor (GO:0034612)|response to UV (GO:0009411)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|striated muscle myosin thick filament (GO:0005863)	ligase activity (GO:0016874)|myosin binding (GO:0017022)|protein self-association (GO:0043621)|RNA binding (GO:0003723)|Tat protein binding (GO:0030957)|transcription coactivator activity (GO:0003713)|translation initiation factor binding (GO:0031369)|ubiquitin binding (GO:0043130)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.R344W(2)		breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(5)|liver(1)|lung(6)|prostate(1)|skin(2)|urinary_tract(1)	26						TGCTAAACAGCGGGGTCCTGA	0.557																																					Esophageal Squamous(92;212 1916 19711 26951)	ENST00000450136.1																			2	Substitution - Missense(2)	p.R344W(2)	prostate(2)	breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(5)|liver(1)|lung(6)|prostate(1)|skin(2)|urinary_tract(1)	26						c.(1030-1032)Cgg>Tgg		tripartite motif containing 32							47	52	50					9																	119461051		2203	4300	6503	SO:0001583	missense	22954				fat cell differentiation|innate immune response|negative regulation of apoptosis|negative regulation of fibroblast proliferation|positive regulation of cell cycle|positive regulation of cell growth|positive regulation of cell migration|positive regulation of neurogenesis|positive regulation of neuron differentiation|positive regulation of NF-kappaB transcription factor activity|positive regulation of protein catabolic process|positive regulation of proteolysis|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to tumor necrosis factor|response to UV	nucleus	myosin binding|protein self-association|RNA binding|Tat protein binding|transcription coactivator activity|translation initiation factor binding|ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr9:119461051C>T	U18543	CCDS6817.1	9q33.1	2014-09-17	2011-01-25		ENSG00000119401	ENSG00000119401		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	16380	protein-coding gene	gene with protein product		602290	"limb girdle muscular dystrophy 2H (autosomal recessive)", "tripartite motif-containing 32"	LGMD2H		11331580, 7778269, 16606853	Standard	NM_001099679		Approved	HT2A, TATIP, BBS11	uc004bjx.2	Q13049	OTTHUMG00000021026	ENST00000450136.1:c.1030C>T	9.37:g.119461051C>T	ENSP00000408292:p.Arg344Trp					ASTN2_ENST00000361477.3_Intron|ASTN2_ENST00000361209.2_Intron|ASTN2_ENST00000313400.4_Intron|TRIM32_ENST00000373983.2_Missense_Mutation_p.R344W|ASTN2_ENST00000373996.3_Intron	p.R344W	NM_001099679.1|NM_012210.3	NP_001093149.1|NP_036342.2	Q13049	TRI32_HUMAN			2	1191	+			344					Q9NQP8	Missense_Mutation	SNP	ENST00000450136.1	37	c.1030C>T	CCDS6817.1	.	.	.	.	.	.	.	.	.	.	C	13.14	2.146885	0.37923	.	.	ENSG00000119401	ENST00000450136;ENST00000373983	D;D	0.83673	-1.75;-1.75	5.05	2.83	0.33086	.	0.248562	0.32002	N	0.006728	T	0.75295	0.3830	N	0.19112	0.55	0.39811	D	0.972707	D	0.62365	0.991	P	0.50378	0.639	T	0.73538	-0.3951	9	.	.	.	-12.7734	10.6704	0.45755	0.5435:0.4565:0.0:0.0	.	344	Q13049	TRI32_HUMAN	W	344	ENSP00000408292:R344W;ENSP00000363095:R344W	.	R	+	1	2	TRIM32	118500872	0.998000	0.40836	0.999000	0.59377	0.709000	0.40893	1.109000	0.31135	1.194000	0.43101	0.650000	0.86243	CGG		0.557	TRIM32-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055466.2	NM_012210		5	113	0	0	0	0.184627	0	5	113					T	119461051	C	T	119461051	3	4	35	1	0	0	0	0	1	0	0	0	16503	759	27	1	1032	1	TRIM32	9	119461051	Missense_Mutation	SNP	C	TCGA-CH-5769-01A-11D-1576-08	9771466	119461051	21752380	93	1830											
SLC25A25	114789	broad.mit.edu	37	chr9	130866086	130866087	+	Frame_Shift_Ins	INS	-	-	C																															cgtatccagaacctgcacggINScccccctggacaggctcaag																										TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr9:130866086_130866087insC	ENST00000373064.5	+	5	876_877	c.613_614insC	c.(613-615)gccfs	p.A205fs	SLC25A25_ENST00000433501.1_Frame_Shift_Ins_p.A102fs|SLC25A25_ENST00000373069.5_Frame_Shift_Ins_p.A251fs|SLC25A25_ENST00000432073.2_Frame_Shift_Ins_p.A225fs|SLC25A25_ENST00000373068.2_Frame_Shift_Ins_p.A239fs|SLC25A25_ENST00000373066.5_Frame_Shift_Ins_p.A237fs	NM_052901.4	NP_443133.2	Q6KCM7	SCMC2_HUMAN	solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 25	205					adipose tissue development (GO:0060612)|ATP metabolic process (GO:0046034)|calcium ion transmembrane transport (GO:0070588)|camera-type eye development (GO:0043010)|cellular respiration (GO:0045333)|multicellular organism growth (GO:0035264)|response to activity (GO:0014823)|response to dietary excess (GO:0002021)|response to food (GO:0032094)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)	10						AACCTGCACGGCCCCCCTGGAC	0.639																																						ENST00000373066.5																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)	10						c.(709-711)cccfs		solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 25																																				SO:0001589	frameshift_variant	114789				transmembrane transport	integral to membrane|mitochondrial inner membrane	calcium ion binding	g.chr9:130866086_130866087insC	AJ619963	CCDS6890.1, CCDS35151.1, CCDS48031.1, CCDS59146.1	9q34	2013-05-22			ENSG00000148339	ENSG00000148339		"Solute carriers", "EF-hand domain containing"	20663	protein-coding gene	gene with protein product		608745				15123600	Standard	NM_052901		Approved	KIAA1896, PCSCL, MCSC	uc004btb.4	Q6KCM7	OTTHUMG00000020736	ENST00000373064.5:c.619dupC	9.37:g.130866092_130866092dupC	ENSP00000362155:p.Ala205fs					SLC25A25_ENST00000433501.1_Frame_Shift_Ins_p.P102fs|SLC25A25_ENST00000432073.2_Frame_Shift_Ins_p.P225fs|SLC25A25_ENST00000373064.5_Frame_Shift_Ins_p.P205fs|SLC25A25_ENST00000373068.2_Frame_Shift_Ins_p.P239fs|SLC25A25_ENST00000373069.5_Frame_Shift_Ins_p.P251fs	p.P237fs	NM_001265614.2	NP_001252543.1	Q6KCM7	SCMC2_HUMAN			6	1116_1117	+			205					Q5SYW7|Q5SYW8|Q5SYX3|Q5VWU2|Q5VWU3|Q5VWU4|Q6KCM4|Q6KCM6|Q6UX48|Q705K2|Q96PZ1|Q9BSA6	Frame_Shift_Ins	INS	ENST00000373064.5	37	c.709_710insC	CCDS6890.1																																																																																				0.639	SLC25A25-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054407.1	NM_052901		16	95						16	95	---	---	---	---	C	130866087	-	C	130866086	7	5	35	1	0	1	1	0	0	0	0	0	14488	1203	42	0	1119	0	SLC25A25	9	130866086	Frame_Shift_Ins	INS	-	TCGA-CH-5769-01A-11D-1576-08	11405035	130866086	10347345	94	1831											
NUP188	23511	broad.mit.edu	37	chr9	131768055	131768055	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gccctcaacatgcttggagaGgtaagttggttctgtcagac	9	11	12	9	0	3	2	2	0	1	2	3	3	3	2	1	3	2	4	1	3	2	4			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr9:131768055G>T	ENST00000372577.2	+	41	4890	c.4869G>T	c.(4867-4869)gaG>gaT	p.E1623D	RP11-167N5.5_ENST00000594418.1_lincRNA	NM_015354.1	NP_056169.1	Q5SRE5	NU188_HUMAN	nucleoporin 188kDa	1623					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)		p.E1623D(1)		breast(2)|central_nervous_system(3)|endometrium(6)|kidney(4)|large_intestine(9)|lung(20)|ovary(6)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	60						TGCTTGGAGAGGTAAGTTGGT	0.597																																						ENST00000372577.2																			1	Substitution - Missense(1)	p.E1623D(1)	prostate(1)	breast(2)|central_nervous_system(3)|endometrium(6)|kidney(4)|large_intestine(9)|lung(20)|ovary(6)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	60						c.e41+1		nucleoporin 188kDa							143	140	141					9																	131768055		2203	4300	6503	SO:0001630	splice_region_variant	23511				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding	g.chr9:131768055G>T	D79991	CCDS35156.1	9q34.13	2014-01-28	2004-03-19	2004-03-24	ENSG00000095319	ENSG00000095319			17859	protein-coding gene	gene with protein product		615587	"KIAA0169"	KIAA0169		11029043	Standard	NM_015354		Approved		uc004bws.2	Q5SRE5	OTTHUMG00000020768	ENST00000372577.2:c.4869+1G>T	9.37:g.131768055G>T							p.E1623_splice	NM_015354.1	NP_056169.1	Q5SRE5	NU188_HUMAN			41	4890	+			1623					Q14675|Q2TA87|Q7Z3K8|Q8IWF1	Splice_Site	SNP	ENST00000372577.2	37	c.4869_splice	CCDS35156.1	.	.	.	.	.	.	.	.	.	.	G	23.3	4.399202	0.83120	.	.	ENSG00000095319	ENST00000356693;ENST00000372577	T	0.33438	1.41	5.02	4.13	0.48395	.	0.096036	0.64402	D	0.000001	T	0.47820	0.1466	L	0.57536	1.79	0.80722	D	1	D	0.58970	0.984	D	0.68192	0.956	T	0.43376	-0.9395	10	0.52906	T	0.07	-33.0615	10.8037	0.46504	0.0876:0.0:0.9124:0.0	.	1623	Q5SRE5	NU188_HUMAN	D	1512;1623	ENSP00000361658:E1623D	ENSP00000349125:E1512D	E	+	3	2	NUP188	130807876	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	3.841000	0.55850	1.239000	0.43787	0.561000	0.74099	GAG		0.597	NUP188-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054529.2		Missense_Mutation	18	296	1	0	3.32936e-07	0.539581	3.62569e-07	18	296					T	131768055	G	T	131768055	5	4	35	1	0	0	0	0	0	0	1	0	10758	1014	35	5	5031	5	NUP188	9	131768055	Splice_Site	SNP	G	TCGA-CH-5769-01A-11D-1576-08	901969	131768055	9445376	95	1832											
NOTCH1	4851	broad.mit.edu	37	chr9	139401818	139401818	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aggtcgaggcaggtgcccccGttctggcaggggtgggagag	6	6	20	9	2	1	1	0	0	1	1	2	3	1	1	2	7	1	3	2	7	0	1			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr9:139401818G>A	ENST00000277541.6	-	22	3657	c.3582C>T	c.(3580-3582)aaC>aaT	p.N1194N		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	1194	EGF-like 31; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				anagen (GO:0042640)|aortic valve morphogenesis (GO:0003180)|apoptotic process involved in embryonic digit morphogenesis (GO:1902263)|arterial endothelial cell differentiation (GO:0060842)|atrioventricular node development (GO:0003162)|atrioventricular valve morphogenesis (GO:0003181)|auditory receptor cell fate commitment (GO:0009912)|axonogenesis (GO:0007409)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac atrium morphogenesis (GO:0003209)|cardiac chamber formation (GO:0003207)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac left ventricle morphogenesis (GO:0003214)|cardiac muscle cell proliferation (GO:0060038)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac right atrium morphogenesis (GO:0003213)|cardiac right ventricle formation (GO:0003219)|cardiac septum morphogenesis (GO:0060411)|cardiac vascular smooth muscle cell development (GO:0060948)|cardiac ventricle morphogenesis (GO:0003208)|cell fate specification (GO:0001708)|cell migration involved in endocardial cushion formation (GO:0003273)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|cilium morphogenesis (GO:0060271)|collecting duct development (GO:0072044)|compartment pattern specification (GO:0007386)|coronary artery morphogenesis (GO:0060982)|coronary vein morphogenesis (GO:0003169)|determination of left/right symmetry (GO:0007368)|distal tubule development (GO:0072017)|embryonic hindlimb morphogenesis (GO:0035116)|endocardial cell differentiation (GO:0060956)|endocardial cushion morphogenesis (GO:0003203)|endocardium development (GO:0003157)|endocardium morphogenesis (GO:0003160)|endoderm development (GO:0007492)|epithelial to mesenchymal transition (GO:0001837)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|forebrain development (GO:0030900)|foregut morphogenesis (GO:0007440)|gene expression (GO:0010467)|glial cell differentiation (GO:0010001)|glomerular mesangial cell development (GO:0072144)|growth involved in heart morphogenesis (GO:0003241)|hair follicle morphogenesis (GO:0031069)|heart development (GO:0007507)|heart looping (GO:0001947)|heart trabecula morphogenesis (GO:0061384)|humoral immune response (GO:0006959)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|keratinocyte differentiation (GO:0030216)|left/right axis specification (GO:0070986)|liver development (GO:0001889)|lung development (GO:0030324)|mesenchymal cell development (GO:0014031)|mitral valve formation (GO:0003192)|negative regulation of anoikis (GO:2000811)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of endothelial cell chemotaxis (GO:2001027)|negative regulation of glial cell proliferation (GO:0060253)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of neurogenesis (GO:0050768)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of ossification (GO:0030279)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of photoreceptor cell differentiation (GO:0046533)|negative regulation of pro-B cell differentiation (GO:2000974)|negative regulation of stem cell differentiation (GO:2000737)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|Notch signaling pathway involved in regulation of secondary heart field cardioblast proliferation (GO:0003270)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061419)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland epithelium morphogenesis (GO:0060740)|pulmonary valve morphogenesis (GO:0003184)|regulation of epithelial cell proliferation involved in prostate gland development (GO:0060768)|regulation of extracellular matrix assembly (GO:1901201)|regulation of somitogenesis (GO:0014807)|regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003256)|regulation of transcription, DNA-templated (GO:0006355)|response to muramyl dipeptide (GO:0032495)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell division (GO:0048103)|sprouting angiogenesis (GO:0002040)|transcription initiation from RNA polymerase II promoter (GO:0006367)|tube formation (GO:0035148)|vasculogenesis involved in coronary vascular morphogenesis (GO:0060979)|venous endothelial cell differentiation (GO:0060843)|ventricular septum morphogenesis (GO:0060412)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|MAML1-RBP-Jkappa- ICN1 complex (GO:0002193)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|receptor activity (GO:0004872)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		AGGTGCCCCCGTTCTGGCAGG	0.667			"T, Mis, O"	TRB@	T-ALL					HNSCC(8;0.001)																												ENST00000277541.6				Dom	yes		9	9q34.3	4851	"T, Mis, O"	"Notch homolog 1, translocation-associated (Drosophila) (TAN1)"			L	TRB@		T-ALL		0				breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359						c.(3580-3582)aaC>aaT		notch 1							26	34	31					9																	139401818		2020	4161	6181	SO:0001819	synonymous_variant	4851				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	g.chr9:139401818G>A	AF308602	CCDS43905.1	9q34.3	2013-01-10	2010-06-24		ENSG00000148400	ENSG00000148400		"Ankyrin repeat domain containing"	7881	protein-coding gene	gene with protein product		190198	"Notch (Drosophila) homolog 1 (translocation-associated)", "Notch homolog 1, translocation-associated (Drosophila)"	TAN1		1831692	Standard	NM_017617		Approved		uc004chz.3	P46531	OTTHUMG00000020935	ENST00000277541.6:c.3582C>T	9.37:g.139401818G>A		HNSCC(8;0.001)					p.N1194N	NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)	22	3657	-	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)	1194			EGF-like 31; calcium-binding (Potential).		Q59ED8|Q5SXM3	Silent	SNP	ENST00000277541.6	37	c.3582C>T	CCDS43905.1																																																																																				0.667	NOTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055087.1	NM_017617		4	37	0	0	0	0.150653	0	4	37					A	139401818	G	A	139401818	2	1	35	1	0	0	0	0	0	0	0	1	10547	1136	40	1		1	NOTCH1	9	139401818	Silent	SNP	G	TCGA-CH-5769-01A-11D-1576-08	7633763	139401818	1811613	96	1833											
FAM171A1	221061	broad.mit.edu	37	chr10	15325965	15325965	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aactgactgcccagcttataCtggaacttgataaaggcgac	13	9	9	10	1	0	2	0	2	0	0	0	4	0	3	1	2	5	1	1	2	6	4			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr10:15325965C>T	ENST00000378116.4	-	2	243	c.237G>A	c.(235-237)caG>caA	p.Q79Q		NM_001010924.1	NP_001010924.1	Q5VUB5	F1711_HUMAN	family with sequence similarity 171, member A1	79						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(6)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	52						CCAGCTTATACTGGAACTTGA	0.567																																						ENST00000378116.4																			0				breast(6)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	52						c.(235-237)caG>caA		family with sequence similarity 171, member A1							96	82	87					10																	15325965		2203	4300	6503	SO:0001819	synonymous_variant	221061					integral to membrane		g.chr10:15325965C>T	AK022946	CCDS31154.1	10p13	2008-06-16	2008-06-16	2008-06-16	ENSG00000148468	ENSG00000148468			23522	protein-coding gene	gene with protein product			"chromosome 10 open reading frame 38"	C10orf38			Standard	NM_001010924		Approved	FLJ12884	uc001iob.3	Q5VUB5	OTTHUMG00000017732	ENST00000378116.4:c.237G>A	10.37:g.15325965C>T							p.Q79Q	NM_001010924.1	NP_001010924.1	Q5VUB5	F1711_HUMAN			2	243	-			79					D3DRT9|Q32M49|Q8N4I0	Silent	SNP	ENST00000378116.4	37	c.237G>A	CCDS31154.1																																																																																				0.567	FAM171A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046984.1	XM_167709		4	143	0	0	0	0.150653	0	4	143					T	15325965	C	T	15325965	2	4	35	1	0	0	0	0	0	0	0	1	5490	564	20	3		3	FAM171A1	10	15325965	Silent	SNP	C	TCGA-CH-5769-01A-11D-1576-08		15325965	120208782	97	1834											
THNSL1	79896	broad.mit.edu	37	chr10	25314125	25314125	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagggtgcaagacaaaacttGccctgtgattatctcatcta	12	12	8	9	0	2	2	1	1	2	1	3	2	2	2	1	1	3	1	1	1	6	4			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr10:25314125G>A	ENST00000524413.1	+	3	2320	c.1973G>A	c.(1972-1974)tGc>tAc	p.C658Y	THNSL1_ENST00000376356.4_Missense_Mutation_p.C658Y			Q8IYQ7	THNS1_HUMAN	threonine synthase-like 1 (S. cerevisiae)	658						cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)				NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(5)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	28					L-Threonine(DB00156)	GACAAAACTTGCCCTGTGATT	0.403																																						ENST00000524413.1																			0				NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(5)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	28						c.(1972-1974)tGc>tAc		threonine synthase-like 1 (S. cerevisiae)	L-Threonine(DB00156)|Pyridoxal Phosphate(DB00114)						95	93	94					10																	25314125		2203	4300	6503	SO:0001583	missense	79896				threonine biosynthetic process		ATP binding|pyridoxal phosphate binding|shikimate kinase activity|threonine synthase activity	g.chr10:25314125G>A	AK025655	CCDS7147.1	10p12.31	2008-02-05	2007-06-20		ENSG00000185875	ENSG00000185875			26160	protein-coding gene	gene with protein product		611260	"threonine synthase-like 1 (bacterial)"			12477932	Standard	NM_024838		Approved	FLJ22002	uc001isi.4	Q8IYQ7	OTTHUMG00000017828	ENST00000524413.1:c.1973G>A	10.37:g.25314125G>A	ENSP00000434887:p.Cys658Tyr					THNSL1_ENST00000376356.4_Missense_Mutation_p.C658Y	p.C658Y			Q8IYQ7	THNS1_HUMAN			3	2320	+			658					B3KWL1|D3DRV3|Q5VV21	Missense_Mutation	SNP	ENST00000524413.1	37	c.1973G>A	CCDS7147.1	.	.	.	.	.	.	.	.	.	.	G	14.76	2.630207	0.46944	.	.	ENSG00000185875	ENST00000524413;ENST00000376356	T;T	0.11063	2.81;2.81	5.94	5.94	0.96194	Threonine synthase (1);Pyridoxal phosphate-dependent enzyme, beta subunit (2);	0.000000	0.85682	D	0.000000	T	0.25568	0.0622	L	0.38953	1.18	0.80722	D	1	D	0.65815	0.995	D	0.63703	0.917	T	0.00112	-1.2044	10	0.72032	D	0.01	-31.6798	20.3632	0.98871	0.0:0.0:1.0:0.0	.	658	Q8IYQ7	THNS1_HUMAN	Y	658	ENSP00000434887:C658Y;ENSP00000365534:C658Y	ENSP00000365534:C658Y	C	+	2	0	THNSL1	25354131	1.000000	0.71417	1.000000	0.80357	0.848000	0.48234	8.949000	0.93012	2.826000	0.97356	0.561000	0.74099	TGC		0.403	THNSL1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394913.1	NM_024838		6	109	0	0	0	0.217242	0	6	109					A	25314125	G	A	25314125	3	1	35	1	0	0	0	0	1	0	0	0	15859	1319	46	3	1975	3	THNSL1	10	25314125	Missense_Mutation	SNP	G	TCGA-CH-5769-01A-11D-1576-08	9988160	25314125	110220622	98	1835											
ERCC6	2074	broad.mit.edu	37	chr10	50680468	50680469	+	Frame_Shift_Del	DEL	AC	AC	-																															gcccgcagtcaggagcctgtAcacagtcacttgcttcttct																										TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr10:50680468_50680469delAC	ENST00000355832.5	-	16	2955_2956	c.2877_2878delGT	c.(2875-2880)gtgtacfs	p.Y960fs	ERCC6_ENST00000465653.1_5'Flank|ERCC6_ENST00000542458.1_Frame_Shift_Del_p.Y330fs|RP11-123B3.2_ENST00000423283.1_RNA	NM_000124.2	NP_000115.1	Q03468	ERCC6_HUMAN	excision repair cross-complementation group 6	960	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				activation of JNKK activity (GO:0007256)|activation of JUN kinase activity (GO:0007257)|ATP catabolic process (GO:0006200)|base-excision repair (GO:0006284)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|multicellular organism growth (GO:0035264)|nucleotide-excision repair (GO:0006289)|photoreceptor cell maintenance (GO:0045494)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|positive regulation of protein tyrosine kinase activity (GO:0061098)|pyrimidine dimer repair (GO:0006290)|regulation of DNA-templated transcription, elongation (GO:0032784)|response to gamma radiation (GO:0010332)|response to oxidative stress (GO:0006979)|response to superoxide (GO:0000303)|response to toxic substance (GO:0009636)|response to UV (GO:0009411)|response to UV-B (GO:0010224)|response to X-ray (GO:0010165)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase II promoter (GO:0006366)|transcription-coupled nucleotide-excision repair (GO:0006283)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|protein N-terminus binding (GO:0047485)|protein tyrosine kinase activator activity (GO:0030296)			breast(5)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						AGGAGCCTGTACACAGTCACTT	0.55								Direct reversal of damage;Nucleotide excision repair (NER)																														ENST00000355832.5																			0				breast(5)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						c.(2875-2880)gtacfs	Direct reversal of damage;Nucleotide excision repair (NER)	excision repair cross-complementing rodent repair deficiency, complementation group 6																																				SO:0001589	frameshift_variant	2074				base-excision repair|positive regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair	nucleolus|soluble fraction|transcription elongation factor complex	ATP binding|chromatin binding|DNA binding|DNA-dependent ATPase activity|helicase activity|protein C-terminus binding|protein complex binding|protein N-terminus binding	g.chr10:50680468_50680469delAC	L04791	CCDS7229.1	10q11	2014-09-17	2014-03-07		ENSG00000225830	ENSG00000225830			3438	protein-coding gene	gene with protein product	"Cockayne syndrome B protein"	609413	"excision repair cross-complementing rodent repair deficiency, complementation group 6"	CKN2		1339317, 19179336	Standard	NM_000124		Approved	CSB, RAD26, ARMD5	uc001jhs.5	Q03468	OTTHUMG00000018195	ENST00000355832.5:c.2877_2878delGT	10.37:g.50680470_50680471delAC	ENSP00000348089:p.Tyr960fs					RP11-123B3.2_ENST00000423283.1_RNA|ERCC6_ENST00000542458.1_Frame_Shift_Del_p.VY329fs	p.VY959fs	NM_000124.2	NP_000115.1	Q03468	ERCC6_HUMAN			16	2955_2956	-			959			Helicase C-terminal.		D3DX94|Q5W0L9	Frame_Shift_Del	DEL	ENST00000355832.5	37	c.2877_2878delGT	CCDS7229.1																																																																																				0.55	ERCC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047990.1	NM_000124		8	298						8	298	---	---	---	---	-	50680469	AC	-	50680468	7	5	35	1	0	1	0	1	0	0	0	0	5217	391	14	0	1627	0	ERCC6	10	50680468	Frame_Shift_Del	DEL	AC	TCGA-CH-5769-01A-11D-1576-08	25366343	50680468	84854279	99	1836											
SGPL1	8879	broad.mit.edu	37	chr10	72576638	72576638	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacagaccttctgatgttggTgagccttttgcagacatcct	8	13	9	11	0	1	4	0	2	1	2	2	4	2	4	3	1	2	2	3	1	0	4			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr10:72576638T>C	ENST00000373202.3	+	2	227		c.e2+2		SGPL1_ENST00000486993.1_Splice_Site	NM_003901.3	NP_003892.2	O95470	SGPL1_HUMAN	sphingosine-1-phosphate lyase 1						androgen metabolic process (GO:0008209)|apoptotic signaling pathway (GO:0097190)|ceramide metabolic process (GO:0006672)|estrogen metabolic process (GO:0008210)|face morphogenesis (GO:0060325)|fatty acid metabolic process (GO:0006631)|fibroblast migration (GO:0010761)|hemopoiesis (GO:0030097)|kidney development (GO:0001822)|Leydig cell differentiation (GO:0033327)|luteinization (GO:0001553)|palate development (GO:0060021)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|post-embryonic development (GO:0009791)|regulation of multicellular organism growth (GO:0040014)|skeletal system morphogenesis (GO:0048705)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid catabolic process (GO:0030149)|sphingolipid metabolic process (GO:0006665)|vasculogenesis (GO:0001570)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)	carboxy-lyase activity (GO:0016831)|pyridoxal phosphate binding (GO:0030170)|sphinganine-1-phosphate aldolase activity (GO:0008117)			large_intestine(4)	4						CTGATGTTGGTGAGCCTTTTG	0.473																																					Colon(151;1054 2458 6676 40971)	ENST00000373202.3																			0				large_intestine(4)	4						c.e2+2		sphingosine-1-phosphate lyase 1	Pyridoxal Phosphate(DB00114)						365	328	340					10																	72576638		2203	4300	6503	SO:0001630	splice_region_variant	8879				apoptosis|carboxylic acid metabolic process|ceramide metabolic process|sphingolipid catabolic process	integral to endoplasmic reticulum membrane	carboxy-lyase activity|pyridoxal phosphate binding|sphinganine-1-phosphate aldolase activity	g.chr10:72576638T>C	AI128825	CCDS31216.1	10q21	2008-08-01			ENSG00000166224	ENSG00000166224			10817	protein-coding gene	gene with protein product		603729				9464245, 17090686	Standard	NM_003901		Approved	SPL	uc001jrm.3	O95470	OTTHUMG00000018421	ENST00000373202.3:c.27+2T>C	10.37:g.72576638T>C						SGPL1_ENST00000486993.1_Splice_Site		NM_003901.3	NP_003892.2	O95470	SGPL1_HUMAN			2	227	+								B2RBD4|Q7Z732|Q9ULG8|Q9UN89	Splice_Site	SNP	ENST00000373202.3	37		CCDS31216.1	.	.	.	.	.	.	.	.	.	.	T	13.88	2.368821	0.42003	.	.	ENSG00000166224	ENST00000373202	.	.	.	4.73	4.73	0.59995	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.8224	0.46612	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	SGPL1	72246644	1.000000	0.71417	1.000000	0.80357	0.338000	0.28826	3.266000	0.51569	2.114000	0.64651	0.451000	0.29950	.		0.473	SGPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048533.1	NM_003901	Intron	11	520	0	0	0	0.435327	0	11	520					C	72576638	T	C	72576638	5	2	35	1	0	0	0	0	0	0	1	0	14218	1710	59	4	31	4	SGPL1	10	72576638	Splice_Site	SNP	T	TCGA-CH-5769-01A-11D-1576-08	21896170	72576638	62958109	100	1837											
MMRN2	79812	broad.mit.edu	37	chr10	88702968	88702968	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggagccgtccagctgccgccGctcgtccaggctcacctggg	4	6	14	17	4	1	0	1	0	0	0	4	1	3	1	6	3	3	3	6	3	0	0			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr10:88702968G>A	ENST00000372027.5	-	6	1894	c.1573C>T	c.(1573-1575)Cgg>Tgg	p.R525W	MMRN2_ENST00000488950.1_5'Flank	NM_024756.2	NP_079032.2	Q9H8L6	MMRN2_HUMAN	multimerin 2	525					angiogenesis (GO:0001525)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030948)	basement membrane (GO:0005604)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)		p.R525W(1)		breast(1)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|skin(1)|stomach(1)	19						AGCTGCCGCCGCTCGTCCAGG	0.697																																						ENST00000372027.4																			1	Substitution - Missense(1)	p.R525W(1)	prostate(1)	breast(1)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|skin(1)|stomach(1)	19						c.(1573-1575)Cgg>Tgg		multimerin 2							26	24	25					10																	88702968		2201	4296	6497	SO:0001583	missense	79812					extracellular space		g.chr10:88702968G>A	AK023527	CCDS7379.1	10q23.31	2004-03-10	2004-03-02	2004-03-02	ENSG00000173269	ENSG00000173269		"EMI domain containing"	19888	protein-coding gene	gene with protein product		608925	"elastin microfibril interfacer 3"	EMILIN3		11559704	Standard	NM_024756		Approved	EndoGlyx-1, FLJ13465	uc001kea.3	Q9H8L6	OTTHUMG00000018663	ENST00000372027.5:c.1573C>T	10.37:g.88702968G>A	ENSP00000361097:p.Arg525Trp						p.R525W	NM_024756.2	NP_079032.2	Q9H8L6	MMRN2_HUMAN			6	1646	-			525					Q504V7|Q6P2N2	Missense_Mutation	SNP	ENST00000372027.5	37	c.1573C>T	CCDS7379.1	.	.	.	.	.	.	.	.	.	.	G	13.73	2.325316	0.41197	.	.	ENSG00000173269	ENST00000372027;ENST00000443699	T	0.71103	-0.54	5.69	5.69	0.88448	.	0.829341	0.10794	N	0.633368	T	0.68192	0.2974	L	0.50333	1.59	0.09310	N	1	D;D;D	0.62365	0.991;0.978;0.991	B;B;B	0.44315	0.446;0.425;0.328	T	0.63629	-0.6594	10	0.66056	D	0.02	-21.4922	10.6938	0.45886	0.0862:0.0:0.9138:0.0	.	303;464;525	E7EN39;B4E3H8;Q9H8L6	.;.;MMRN2_HUMAN	W	525;303	ENSP00000361097:R525W	ENSP00000361097:R525W	R	-	1	2	MMRN2	88692948	0.057000	0.20700	0.205000	0.23548	0.510000	0.34073	1.575000	0.36493	2.687000	0.91594	0.462000	0.41574	CGG		0.697	MMRN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049179.2	NM_024756		6	43	0	0	0	0.217242	0	6	43					A	88702968	G	A	88702968	3	1	35	1	0	0	0	0	1	0	0	0	9671	1086	38	1	1284	1	MMRN2	10	88702968	Missense_Mutation	SNP	G	TCGA-CH-5769-01A-11D-1576-08	16126330	88702968	46831779	101	1838											
BTRC	8945	broad.mit.edu	37	chr10	103294575	103294575	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccccaactgacattaccctcCggagggtgctggtcggacac	8	7	11	15	2	0	1	0	1	0	0	2	3	1	3	4	4	3	1	4	4	2	1			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr10:103294575C>T	ENST00000370187.3	+	10	1373	c.1255C>T	c.(1255-1257)Cgg>Tgg	p.R419W	BTRC_ENST00000408038.2_Missense_Mutation_p.R383W|BTRC_ENST00000393441.4_Missense_Mutation_p.R378W	NM_033637.3	NP_378663.1	Q9Y297	FBW1A_HUMAN	beta-transducin repeat containing E3 ubiquitin protein ligase	419					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|branching involved in mammary gland duct morphogenesis (GO:0060444)|cellular response to organic cyclic compound (GO:0071407)|G2/M transition of mitotic cell cycle (GO:0000086)|mammary gland epithelial cell proliferation (GO:0033598)|mitotic cell cycle (GO:0000278)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of circadian rhythm (GO:0042753)|positive regulation of proteolysis (GO:0045862)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein dephosphorylation (GO:0006470)|protein destabilization (GO:0031648)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|regulation of cell cycle (GO:0051726)|regulation of circadian rhythm (GO:0042752)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of proteasomal protein catabolic process (GO:0061136)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|rhythmic process (GO:0048511)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|signal transduction (GO:0007165)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|nucleus (GO:0005634)|SCF ubiquitin ligase complex (GO:0019005)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			endometrium(4)|kidney(2)|large_intestine(6)|lung(11)|ovary(2)|stomach(1)|urinary_tract(1)	27		Colorectal(252;0.234)		Epithelial(162;1.05e-08)|all cancers(201;6.59e-07)		CATTACCCTCCGGAGGGTGCT	0.468																																						ENST00000370187.3																			0				endometrium(4)|kidney(2)|large_intestine(6)|lung(11)|ovary(2)|stomach(1)|urinary_tract(1)	27						c.(1255-1257)Cgg>Tgg		beta-transducin repeat containing E3 ubiquitin protein ligase							227	203	211					10																	103294575		2203	4300	6503	SO:0001583	missense	8945				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|positive regulation of proteolysis|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein destabilization|viral reproduction|Wnt receptor signaling pathway	cytosol|nucleus|SCF ubiquitin ligase complex		g.chr10:103294575C>T	Y14153	CCDS7511.1, CCDS7512.1, CCDS73183.1	10q24.32	2013-01-10	2012-02-23		ENSG00000166167	ENSG00000166167		"F-boxes / WD-40 domains", "WD repeat domain containing"	1144	protein-coding gene	gene with protein product		603482	"beta-transducin repeat containing"			9660940, 10331953, 18354483	Standard	NM_033637		Approved	bTrCP, betaTrCP, FBXW1A, Fwd1, beta-TrCP1, bTrCP1	uc001kta.4	Q9Y297	OTTHUMG00000018932	ENST00000370187.3:c.1255C>T	10.37:g.103294575C>T	ENSP00000359206:p.Arg419Trp					BTRC_ENST00000408038.2_Missense_Mutation_p.R383W|BTRC_ENST00000393441.4_Missense_Mutation_p.R378W	p.R419W	NM_033637.3	NP_378663.1	Q9Y297	FBW1A_HUMAN		Epithelial(162;1.05e-08)|all cancers(201;6.59e-07)	10	1373	+		Colorectal(252;0.234)	419					B5MD49|Q5W141|Q5W142|Q9Y213	Missense_Mutation	SNP	ENST00000370187.3	37	c.1255C>T	CCDS7512.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.087278	0.76642	.	.	ENSG00000166167	ENST00000370187;ENST00000393441;ENST00000408038	T;T;T	0.35973	1.28;1.28;2.21	5.69	3.79	0.43588	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.179769	0.38897	N	0.001530	T	0.60676	0.2287	M	0.78916	2.43	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.77004	0.975;0.957;0.989	T	0.65656	-0.6115	10	0.72032	D	0.01	-11.6449	14.8331	0.70162	0.3834:0.6166:0.0:0.0	.	393;383;419	B7Z3H4;Q9Y297-2;Q9Y297	.;.;FBW1A_HUMAN	W	419;378;383	ENSP00000359206:R419W;ENSP00000377088:R378W;ENSP00000385339:R383W	ENSP00000359206:R419W	R	+	1	2	BTRC	103284565	0.983000	0.35010	1.000000	0.80357	0.997000	0.91878	1.635000	0.37134	0.717000	0.32145	0.655000	0.94253	CGG		0.468	BTRC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049936.1	NM_033637		5	283	0	0	0	0.184627	0	5	283					T	103294575	C	T	103294575	3	4	35	1	0	0	0	0	1	0	0	0	1569	643	23	2	1293	2	BTRC	10	103294575	Missense_Mutation	SNP	C	TCGA-CH-5769-01A-11D-1576-08	14591607	103294575	32240172	102	1839											
TCF7L2	6934	broad.mit.edu	37	chr10	114925494	114925494	+	Frame_Shift_Del	DEL	C	C	-																															tcgctgtccctgaagcccgaCcccctggcccacctgtccat																										TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr10:114925494delC	ENST00000355995.4	+	15	2130	c.1623delC	c.(1621-1623)gacfs	p.D541fs	TCF7L2_ENST00000542695.1_Frame_Shift_Del_p.D257fs|TCF7L2_ENST00000536810.1_Frame_Shift_Del_p.D524fs|TCF7L2_ENST00000466338.1_3'UTR|TCF7L2_ENST00000369386.1_3'UTR|TCF7L2_ENST00000545257.1_Frame_Shift_Del_p.D541fs|TCF7L2_ENST00000369397.4_Frame_Shift_Del_p.D518fs|TCF7L2_ENST00000538897.1_3'UTR|TCF7L2_ENST00000355717.4_3'UTR|TCF7L2_ENST00000543371.1_Frame_Shift_Del_p.D524fs			Q9NQB0	TF7L2_HUMAN	transcription factor 7-like 2 (T-cell specific, HMG-box)	541					blood vessel development (GO:0001568)|bone mineralization (GO:0030282)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in positive regulation of epithelial to mesenchymal transition (GO:0044334)|catenin import into nucleus (GO:0035411)|cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|cellular response to starvation (GO:0009267)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic genitalia morphogenesis (GO:0030538)|embryonic hindgut morphogenesis (GO:0048619)|face morphogenesis (GO:0060325)|fat cell differentiation (GO:0045444)|generation of neurons (GO:0048699)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glycogen metabolic process (GO:0005977)|insulin metabolic process (GO:1901142)|maintenance of DNA repeat elements (GO:0043570)|multicellular organism growth (GO:0035264)|myoblast fate commitment (GO:0048625)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|negative regulation of organ growth (GO:0046621)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of type B pancreatic cell apoptotic process (GO:2000675)|neural tube development (GO:0021915)|odontogenesis of dentin-containing tooth (GO:0042475)|oligodendrocyte development (GO:0014003)|pancreas development (GO:0031016)|pituitary gland development (GO:0021983)|positive regulation of apoptotic process (GO:0043065)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of gluconeogenesis (GO:0045722)|positive regulation of heparan sulfate proteoglycan biosynthetic process (GO:0010909)|positive regulation of insulin secretion (GO:0032024)|positive regulation of protein binding (GO:0032092)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of triglyceride biosynthetic process (GO:0010867)|post-embryonic development (GO:0009791)|regulation of hormone metabolic process (GO:0032350)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|regulation of myelination (GO:0031641)|regulation of oligodendrocyte differentiation (GO:0048713)|regulation of skeletal muscle tissue development (GO:0048641)|regulation of smooth muscle cell proliferation (GO:0048660)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to glucose (GO:0009749)|secretory granule localization (GO:0032252)|skin development (GO:0043588)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	beta-catenin-TCF7L2 complex (GO:0070369)|cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein-DNA complex (GO:0032993)|transcription factor complex (GO:0005667)	armadillo repeat domain binding (GO:0070016)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|gamma-catenin binding (GO:0045295)|nuclear hormone receptor binding (GO:0035257)|protein kinase binding (GO:0019901)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II repressing transcription factor binding (GO:0001103)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)		VTI1A/TCF7L2(8)	central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(24)|liver(2)|lung(8)|ovary(1)|skin(1)	41		Breast(234;0.058)|Colorectal(252;0.0615)		Epithelial(162;0.00554)|all cancers(201;0.02)		TGAAGCCCGACCCCCTGGCCC	0.697			T	VTI1A	colorectal																																	ENST00000355995.4				Dom	yes		10	10q25.3	6934	T	transcription factor 7-like 2			E	VTI1A		colorectal	VTI1A/TCF7L2(8)	0				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(24)|liver(2)|lung(8)|ovary(1)|skin(1)	41						c.(1621-1623)gafs		transcription factor 7-like 2 (T-cell specific, HMG-box)							55	62	60					10																	114925494		2203	4300	6503	SO:0001589	frameshift_variant	6934				anti-apoptosis|blood vessel development|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell cycle arrest|cell proliferation|fat cell differentiation|glucose homeostasis|maintenance of DNA repeat elements|myoblast cell fate commitment|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|pancreas development|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of insulin secretion|positive regulation of protein binding|positive regulation of protein export from nucleus|positive regulation of protein kinase B signaling cascade|positive regulation of transcription from RNA polymerase II promoter|regulation of hormone metabolic process|regulation of smooth muscle cell proliferation|response to glucose stimulus	beta-catenin-TCF7L2 complex|PML body|protein-DNA complex	armadillo repeat domain binding|beta-catenin binding|gamma-catenin binding|nuclear hormone receptor binding|protein kinase binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding	g.chr10:114925494delC	X62871	CCDS7576.1, CCDS53578.1, CCDS55729.1, CCDS73196.1, CCDS73197.1, CCDS73198.1	10q25.3	2006-11-24			ENSG00000148737	ENSG00000148737			11641	protein-coding gene	gene with protein product		602228		TCF4		1741298	Standard	NM_001146283		Approved	TCF-4	uc001lae.4	Q9NQB0	OTTHUMG00000019070	ENST00000355995.4:c.1623delC	10.37:g.114925494delC	ENSP00000348274:p.Asp541fs					TCF7L2_ENST00000355717.4_3'UTR|TCF7L2_ENST00000536810.1_Frame_Shift_Del_p.D524fs|TCF7L2_ENST00000369397.4_Frame_Shift_Del_p.D518fs|TCF7L2_ENST00000466338.1_3'UTR|TCF7L2_ENST00000543371.1_Frame_Shift_Del_p.D524fs|TCF7L2_ENST00000545257.1_Frame_Shift_Del_p.D541fs|TCF7L2_ENST00000538897.1_3'UTR|TCF7L2_ENST00000369386.1_3'UTR|TCF7L2_ENST00000542695.1_Frame_Shift_Del_p.D257fs	p.D541fs			Q9NQB0	TF7L2_HUMAN		Epithelial(162;0.00554)|all cancers(201;0.02)	15	2130	+		Breast(234;0.058)|Colorectal(252;0.0615)	541					B4DRJ8|B9X074|C6ZRJ8|C6ZRK0|E2GH14|E2GH19|E2GH20|E2GH24|E2GH25|E9PFH9|F8W742|F8W7T5|O00185|Q9NQB1|Q9NQB2|Q9NQB3|Q9NQB4|Q9NQB5|Q9NQB6|Q9NQB7|Q9ULC2	Frame_Shift_Del	DEL	ENST00000355995.4	37	c.1623delC																																																																																					0.697	TCF7L2-203	KNOWN	basic	protein_coding	protein_coding		NM_030756		49	188						49	188	---	---	---	---	-	114925494	C	-	114925494	7	5	35	1	0	1	0	1	0	0	0	0	15695	506	18	0	1903	0	TCF7L2	10	114925494	Frame_Shift_Del	DEL	C	TCGA-CH-5769-01A-11D-1576-08	11630919	114925494	20609253	103	1840											
ANO9	338440	broad.mit.edu	37	chr11	420567	420567	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaagagcgcgagcagcggcGccagcgggaaggcggccacg	9	1	19	12	7	0	2	0	1	0	1	0	4	0	3	2	4	4	1	2	4	2	0			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr11:420567G>A	ENST00000332826.6	-	19	1766	c.1682C>T	c.(1681-1683)gCg>gTg	p.A561V		NM_001012302.2	NP_001012302	A1A5B4	ANO9_HUMAN	anoctamin 9	561					calcium activated galactosylceramide scrambling (GO:0061591)|calcium activated phosphatidylcholine scrambling (GO:0061590)|calcium activated phosphatidylserine scrambling (GO:0061589)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|negative regulation of intracellular calcium activated chloride channel activity (GO:1902939)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)|phospholipid scramblase activity (GO:0017128)			central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|lung(5)|ovary(1)|prostate(4)|skin(4)	21						GAGCAGCGGCGCCAGCGGGAA	0.687																																						ENST00000332826.6																			0				central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|lung(5)|ovary(1)|prostate(4)|skin(4)	21						c.(1681-1683)gCg>gTg		anoctamin 9							23	19	20					11																	420567		2189	4274	6463	SO:0001583	missense	338440					chloride channel complex	chloride channel activity	g.chr11:420567G>A	U33271	CCDS31326.1	11p15.5	2014-04-09	2008-08-28	2008-08-28	ENSG00000185101	ENSG00000185101		"Ion channels / Chloride channels : Calcium activated : Anoctamins"	20679	protein-coding gene	gene with protein product			"tumor protein p53 inducible protein 5", "transmembrane protein 16J"	TP53I5, TMEM16J		9305847, 24692353	Standard	NM_001012302		Approved	PIG5	uc001lpi.2	A1A5B4	OTTHUMG00000165446	ENST00000332826.6:c.1682C>T	11.37:g.420567G>A	ENSP00000332788:p.Ala561Val						p.A561V	NM_001012302.2	NP_001012302.2	A1A5B4	ANO9_HUMAN			19	1766	-			561					B3KUC4|B4E134|Q8TEN4	Missense_Mutation	SNP	ENST00000332826.6	37	c.1682C>T	CCDS31326.1	.	.	.	.	.	.	.	.	.	.	G	35	5.538612	0.96474	.	.	ENSG00000185101	ENST00000332826	T	0.71103	-0.54	4.05	4.05	0.47172	.	0.460361	0.21210	N	0.078334	D	0.87273	0.6136	M	0.92122	3.275	0.80722	D	1	D;D	0.76494	0.999;0.999	P;D	0.70716	0.906;0.97	D	0.90917	0.4780	10	0.72032	D	0.01	.	16.6508	0.85188	0.0:0.0:1.0:0.0	.	262;561	A1A5B4-2;A1A5B4	.;ANO9_HUMAN	V	561	ENSP00000332788:A561V	ENSP00000332788:A561V	A	-	2	0	ANO9	410567	1.000000	0.71417	0.991000	0.47740	0.996000	0.88848	7.821000	0.86641	1.980000	0.57719	0.456000	0.33151	GCG		0.687	ANO9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384116.1	NM_001012302		5	42	0	0	0	0.248553	0	5	42					A	420567	G	A	420567	3	1	35	1	0	0	0	0	1	0	0	0	704	1087	38	1	686	1	ANO9	11	420567	Missense_Mutation	SNP	G	TCGA-CH-5769-01A-11D-1576-08		420567	134585949	104	1841											
TRIM5	85363	broad.mit.edu	37	chr11	5686351	5686352	+	Frame_Shift_Ins	INS	-	-	T																															atttaggttgataattttcaINStttttttcaatattacacat																										TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr11:5686351_5686352insT	ENST00000380034.3	-	8	1425_1426	c.1169_1170insA	c.(1168-1170)aatfs	p.N390fs	TRIM5_ENST00000380027.1_Intron|TRIM5_ENST00000305836.5_Frame_Shift_Ins_p.N390fs|TRIM5_ENST00000396847.3_3'UTR|TRIM5_ENST00000396855.3_Intron|TRIM5_ENST00000483835.1_Intron|TRIM5_ENST00000396853.4_Intron	NM_033034.2|NM_033092.2	NP_149023.2|NP_149083.2	Q9C035	TRIM5_HUMAN	tripartite motif containing 5	390	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				activation of innate immune response (GO:0002218)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of viral entry into host cell (GO:0046597)|negative regulation of viral release from host cell (GO:1902187)|pattern recognition receptor signaling pathway (GO:0002221)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein K63-linked ubiquitination (GO:0070534)|protein trimerization (GO:0070206)|regulation of lipopolysaccharide-mediated signaling pathway (GO:0031664)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	identical protein binding (GO:0042802)|ligase activity (GO:0016874)|protein homodimerization activity (GO:0042803)|signaling pattern recognition receptor activity (GO:0008329)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)|Lung NSC(207;0.138)|all_lung(207;0.221)		Epithelial(150;7.21e-09)|BRCA - Breast invasive adenocarcinoma(625;0.139)		GATAATTTTCATTTTTTTCAAT	0.421																																						ENST00000305836.5																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21						c.(1168-1170)agafs		tripartite motif containing 5																																				SO:0001589	frameshift_variant	85363				interspecies interaction between organisms|protein trimerization|response to virus	cytoplasm|cytoplasmic mRNA processing body	ligase activity|protein binding|protein homodimerization activity|zinc ion binding	g.chr11:5686351_5686352insT	AF220025	CCDS31392.1, CCDS31393.1, CCDS31394.1	11p15	2014-06-03	2011-01-25		ENSG00000132256	ENSG00000132256		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	16276	protein-coding gene	gene with protein product	"tripartite motif protein TRIM5", "tripartite motif protein TRIM"	608487	"tripartite motif-containing 5"			11331580	Standard	NM_033034		Approved	RNF88, TRIM5alpha	uc001mbm.2	Q9C035	OTTHUMG00000066893	ENST00000380034.3:c.1170dupA	11.37:g.5686358_5686358dupT	ENSP00000369373:p.Asn390fs					TRIM5_ENST00000396847.3_3'UTR|TRIM5_ENST00000396853.4_Intron|TRIM5_ENST00000396855.3_Intron|TRIM5_ENST00000380034.3_Frame_Shift_Ins_p.R390fs|TRIM5_ENST00000380027.1_Intron|TRIM5_ENST00000483835.1_Intron	p.R390fs			Q9C035	TRIM5_HUMAN		Epithelial(150;7.21e-09)|BRCA - Breast invasive adenocarcinoma(625;0.139)	8	1471_1472	-		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)|Lung NSC(207;0.138)|all_lung(207;0.221)	390			B30.2/SPRY.		A6NGQ1|A8WFA8|D3DQS8|D3DQS9|G3GJY1|Q2MLV4|Q2MLV8|Q2MLV9|Q2MLW1|Q2MLW3|Q2MLW4|Q2MLW6|Q2MLW7|Q2MLX1|Q2MLX2|Q2MLX3|Q2MLX5|Q2MLY3|Q2MLY4|Q2V6Q6|Q6GX26|Q8WU46|Q96SR5|Q9C031|Q9C032|Q9C033|Q9C034	Frame_Shift_Ins	INS	ENST00000380034.3	37	c.1169_1170insA	CCDS31393.1																																																																																				0.421	TRIM5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000143360.3	NM_033034		11	223						11	223	---	---	---	---	T	5686352	-	T	5686351	7	5	35	1	0	1	1	0	0	0	0	0	16522	214	8	0	405	0	TRIM5	11	5686351	Frame_Shift_Ins	INS	-	TCGA-CH-5769-01A-11D-1576-08	5265784	5686351	129320165	105	1842											
OR52N4	390072	broad.mit.edu	37	chr11	5776704	5776704	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ggcctttaatacctgcactgCccacatttgtgccattgttt	7	15	7	12	0	0	0	0	0	0	0	0	0	0	0	4	1	4	2	4	1	2	6			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr11:5776704C>T	ENST00000317254.3	+	1	782	c.734C>T	c.(733-735)gCc>gTc	p.A245V	TRIM5_ENST00000380027.1_Intron	NM_001005175.2	NP_001005175.3	Q8NGI2	O52N4_HUMAN	olfactory receptor, family 52, subfamily N, member 4 (gene/pseudogene)	245						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;1.87e-10)|LUSC - Lung squamous cell carcinoma(625;0.114)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.197)		ACCTGCACTGCCCACATTTGT	0.493																																						ENST00000317254.3																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26						c.(733-735)gCc>gTc		olfactory receptor, family 52, subfamily N, member 4 (gene/pseudogene)							199	193	195					11																	5776704		2095	4253	6348	SO:0001583	missense	390072				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5776704C>T	AB065813	CCDS44528.1	11p15.4	2013-10-10	2013-10-10		ENSG00000181074	ENSG00000181074		"GPCR / Class A : Olfactory receptors"	15230	protein-coding gene	gene with protein product			"olfactory receptor, family 52, subfamily N, member 4"				Standard	NM_001005175		Approved		uc001mbu.3	Q8NGI2	OTTHUMG00000066887	ENST00000317254.3:c.734C>T	11.37:g.5776704C>T	ENSP00000323224:p.Ala245Val					TRIM5_ENST00000380027.1_Intron	p.A245V	NM_001005175.2	NP_001005175.3	Q8NGI2	O52N4_HUMAN		Epithelial(150;1.87e-10)|LUSC - Lung squamous cell carcinoma(625;0.114)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.197)	1	782	+		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)	245					B2RNP8|Q6IF77	Missense_Mutation	SNP	ENST00000317254.3	37	c.734C>T	CCDS44528.1	.	.	.	.	.	.	.	.	.	.	C	29.6	5.020559	0.93462	.	.	ENSG00000181074	ENST00000317254	T	0.36340	1.26	6.1	6.1	0.99115	GPCR, rhodopsin-like superfamily (1);	0.000000	0.40469	N	0.001094	T	0.65565	0.2703	M	0.87381	2.88	0.39608	D	0.969842	D	0.56521	0.976	P	0.62560	0.904	T	0.70710	-0.4797	10	0.87932	D	0	.	19.2784	0.94040	0.0:1.0:0.0:0.0	.	245	Q8NGI2	O52N4_HUMAN	V	245	ENSP00000323224:A245V	ENSP00000323224:A245V	A	+	2	0	OR52N4	5733280	0.621000	0.27077	1.000000	0.80357	0.638000	0.38207	5.877000	0.69675	2.902000	0.99343	0.650000	0.86243	GCC		0.493	OR52N4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143350.1	NM_001005175		6	239	0	0	0	0.27861	0	6	239					T	5776704	C	T	5776704	3	4	35	1	0	0	0	0	1	0	0	0	11129	739	26	3	736	3	OR52N4	11	5776704	Missense_Mutation	SNP	C	TCGA-CH-5769-01A-11D-1576-08	90353	5776704	129229812	106	1843											
IGSF22	283284	broad.mit.edu	37	chr11	18735656	18735656	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcacagtgatggcgtgcgcaGccagtgcctccagtactgac	8	8	12	13	2	1	2	1	2	0	0	2	2	2	2	3	1	4	2	3	1	1	1			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr11:18735656G>T	ENST00000513874.1	-	14	1977	c.1838C>A	c.(1837-1839)gCt>gAt	p.A613D	RP11-1081L13.4_ENST00000527285.1_RNA	NM_173588.3	NP_775859	Q8N9C0	IGS22_HUMAN	immunoglobulin superfamily, member 22	613	Ig-like 4.							p.A613D(2)		NS(2)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(20)|ovary(4)|prostate(4)|skin(3)	56						GGCGTGCGCAGCCAGTGCCTC	0.627																																						ENST00000513874.1																			2	Substitution - Missense(2)	p.A613D(2)	prostate(2)	NS(2)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(20)|ovary(4)|prostate(4)|skin(3)	56						c.(1837-1839)gCt>gAt		immunoglobulin superfamily, member 22							60	64	63					11																	18735656		2129	4230	6359	SO:0001583	missense	283284							g.chr11:18735656G>T	AK095113	CCDS41625.1, CCDS41625.2	11p15.1	2014-06-06			ENSG00000179057	ENSG00000179057		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	26750	protein-coding gene	gene with protein product							Standard	NM_173588		Approved	FLJ37794	uc009yht.2	Q8N9C0	OTTHUMG00000160502	ENST00000513874.1:c.1838C>A	11.37:g.18735656G>T	ENSP00000421191:p.Ala613Asp					RP11-1081L13.4_ENST00000527285.1_RNA	p.A613D	NM_173588.3	NP_775859.3	Q8N9C0	IGS22_HUMAN			14	1977	-			613			Ig-like 4.		A6NNA0|D6RGV7	Missense_Mutation	SNP	ENST00000513874.1	37	c.1838C>A	CCDS41625.2	.	.	.	.	.	.	.	.	.	.	G	9.629	1.135929	0.21123	.	.	ENSG00000179057	ENST00000513874	T	0.54071	0.59	4.11	4.11	0.48088	.	0.000000	0.36628	U	0.002481	T	0.51007	0.1649	N	0.14661	0.345	0.20196	N	0.999921	D	0.69078	0.997	D	0.67382	0.951	T	0.44360	-0.9333	10	0.14252	T	0.57	.	14.7175	0.69280	0.0:0.0:1.0:0.0	.	613	D6RGV7	.	D	613	ENSP00000421191:A613D	ENSP00000322422:A613D	A	-	2	0	IGSF22	18692232	0.011000	0.17503	0.651000	0.29564	0.273000	0.26683	1.702000	0.37836	2.138000	0.66242	0.551000	0.68910	GCT		0.627	IGSF22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360850.2	NM_173588		6	121	1	0	0.0215528	0.217242	0.0220836	6	121					T	18735656	G	T	18735656	3	4	35	1	0	0	0	0	1	0	0	0	7600	971	34	5	2182	5	IGSF22	11	18735656	Missense_Mutation	SNP	G	TCGA-CH-5769-01A-11D-1576-08	12958952	18735656	116270860	107	1844											
MRGPRX2	117194	broad.mit.edu	37	chr11	19076976	19076976	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tctacaccagactgcttctcGacatctccggggtgccctga	7	10	9	15	2	3	2	0	1	3	1	5	3	3	2	3	2	3	1	3	2	1	2			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr11:19076976G>A	ENST00000329773.2	-	2	1061	c.974C>T	c.(973-975)tCg>tTg	p.S325L		NM_054030.2	NP_473371.1	Q96LB1	MRGX2_HUMAN	MAS-related GPR, member X2	325					positive regulation of cytokinesis (GO:0032467)|sensory perception of pain (GO:0019233)|sleep (GO:0030431)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|neuropeptide binding (GO:0042923)	p.S325L(1)		NS(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	15						ACTGCTTCTCGACATCTCCGG	0.537																																					GBM(198;1966 2199 4849 37227 49954)	ENST00000329773.2																			1	Substitution - Missense(1)	p.S325L(1)	prostate(1)	NS(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	15						c.(973-975)tCg>tTg		MAS-related GPR, member X2							61	62	61					11																	19076976		2199	4293	6492	SO:0001583	missense	117194				sensory perception of pain|sleep	plasma membrane	G-protein coupled receptor activity|neuropeptide binding	g.chr11:19076976G>A		CCDS7847.1	11p15.1	2013-10-10			ENSG00000183695	ENSG00000183695		"GPCR / Class A : Orphans"	17983	protein-coding gene	gene with protein product		607228				11551509	Standard	NM_054030		Approved	MRGX2	uc001mph.3	Q96LB1	OTTHUMG00000166098	ENST00000329773.2:c.974C>T	11.37:g.19076976G>A	ENSP00000333800:p.Ser325Leu						p.S325L	NM_054030.2	NP_473371.1	Q96LB1	MRGX2_HUMAN			2	1061	-			325					B5B0C7|Q4QXW4|Q4QXW7|Q4QXX0|Q4QXX2|Q4QXX3|Q4QXX4|Q4QXX6|Q4QXX7	Missense_Mutation	SNP	ENST00000329773.2	37	c.974C>T	CCDS7847.1	.	.	.	.	.	.	.	.	.	.	.	12.02	1.813714	0.32053	.	.	ENSG00000183695	ENST00000329773	T	0.06371	3.31	3.88	-0.351	0.12602	.	1.363460	0.04968	N	0.463368	T	0.07954	0.0199	M	0.74647	2.275	0.09310	N	1	P	0.43826	0.818	B	0.36289	0.221	T	0.34502	-0.9826	10	0.72032	D	0.01	.	1.1432	0.01769	0.2073:0.1748:0.4386:0.1794	.	325	Q96LB1	MRGX2_HUMAN	L	325	ENSP00000333800:S325L	ENSP00000333800:S325L	S	-	2	0	MRGPRX2	19033552	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	-0.196000	0.09532	-0.043000	0.13513	0.650000	0.86243	TCG		0.537	MRGPRX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387819.1	NM_054030		11	112	0	0	0	0.38729	0	11	112					A	19076976	G	A	19076976	3	1	35	1	0	0	0	0	1	0	0	0	9767	1059	37	2	22	2	MRGPRX2	11	19076976	Missense_Mutation	SNP	G	TCGA-CH-5769-01A-11D-1576-08	341320	19076976	115929540	108	1845											
C11orf9	745	broad.mit.edu	37	chr11	61551032	61551032	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggtgctggagaattcgatgTccatcacctcccagtactgt	9	11	10	11	1	1	1	1	0	0	1	4	3	3	1	3	2	2	2	3	2	2	2			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr11:61551032T>C	ENST00000278836.5	+	23	3175	c.3079T>C	c.(3079-3081)Tcc>Ccc	p.S1027P	TMEM258_ENST00000535042.1_Intron|MYRF_ENST00000265460.5_Missense_Mutation_p.S987P|MYRF_ENST00000389602.4_Missense_Mutation_p.S413P	NM_001127392.1	NP_001120864.1	Q9Y2G1	MRF_HUMAN	myelin regulatory factor	1027					central nervous system myelin maintenance (GO:0032286)|central nervous system myelination (GO:0022010)|oligodendrocyte development (GO:0014003)|oligodendrocyte differentiation (GO:0048709)|positive regulation of myelination (GO:0031643)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)|peptidase activity (GO:0008233)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.S987P(1)									GAATTCGATGTCCATCACCTC	0.617																																						ENST00000278836.5																			1	Substitution - Missense(1)	p.S987P(1)	prostate(1)								c.(3079-3081)Tcc>Ccc		myelin regulatory factor							168	149	156					11																	61551032		2202	4299	6501	SO:0001583	missense	745							g.chr11:61551032T>C		CCDS31579.1, CCDS44622.1	11q12-q13.1	2012-12-19	2012-12-19	2012-12-19	ENSG00000124920	ENSG00000124920			1181	protein-coding gene	gene with protein product	"myelin gene regulatory factor"	608329	"chromosome 11 open reading frame 9"	C11orf9		10828591, 12384578	Standard	NM_001127392		Approved	Ndt80, pqn-47, MRF	uc001nsc.1	Q9Y2G1	OTTHUMG00000168161	ENST00000278836.5:c.3079T>C	11.37:g.61551032T>C	ENSP00000278836:p.Ser1027Pro					MYRF_ENST00000389602.4_Missense_Mutation_p.S413P|TMEM258_ENST00000535042.1_Intron|MYRF_ENST00000265460.5_Missense_Mutation_p.S987P	p.S1027P	NM_001127392.1	NP_001120864.1					23	3175	+								O43582|Q9P1Q6	Missense_Mutation	SNP	ENST00000278836.5	37	c.3079T>C	CCDS44622.1	.	.	.	.	.	.	.	.	.	.	T	1.859	-0.463200	0.04476	.	.	ENSG00000124920	ENST00000278836;ENST00000265460;ENST00000389602	T;T;T	0.45276	0.9;0.9;0.9	4.36	1.4	0.22301	.	0.343368	0.31747	N	0.007125	T	0.10465	0.0256	N	0.00538	-1.39	0.80722	D	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.05517	-1.0880	10	0.23302	T	0.38	-15.9545	4.2911	0.10879	0.1115:0.5601:0.1825:0.1459	.	413;987;1027	B4DHB2;Q9Y2G1-2;Q9Y2G1	.;.;MRF_HUMAN	P	1027;987;413	ENSP00000278836:S1027P;ENSP00000265460:S987P;ENSP00000374253:S413P	ENSP00000265460:S987P	S	+	1	0	C11orf9	61307608	1.000000	0.71417	0.994000	0.49952	0.960000	0.62799	1.064000	0.30579	0.172000	0.19760	-0.896000	0.02909	TCC		0.617	MYRF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000398519.2	NM_013279		11	303	0	0	0	0.361761	0	11	303					C	61551032	T	C	61551032	3	2	35	1	0	0	0	0	1	0	0	0	1671	1667	58	4	3195	4	C11orf9	11	61551032	Missense_Mutation	SNP	T	TCGA-CH-5769-01A-11D-1576-08	42474056	61551032	73455484	109	1846											
MUS81	80198	broad.mit.edu	37	chr11	65633329	65633329	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacccccaaggaacaagagaCactgctgagcaccattaagt	15	5	8	13	0	0	2	0	1	0	1	0	4	0	3	3	1	3	2	3	1	4	1			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr11:65633329C>T	ENST00000308110.4	+	15	1902	c.1553C>T	c.(1552-1554)aCa>aTa	p.T518I	EFEMP2_ENST00000532648.1_5'Flank|MUS81_ENST00000525006.1_3'UTR|MUS81_ENST00000533035.1_Missense_Mutation_p.T443I	NM_025128.4	NP_079404.3	Q96NY9	MUS81_HUMAN	MUS81 structure-specific endonuclease subunit	518					DNA catabolic process, endonucleolytic (GO:0000737)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|response to intra-S DNA damage checkpoint signaling (GO:0072429)	intercellular bridge (GO:0045171)|nucleus (GO:0005634)	3'-flap endonuclease activity (GO:0048257)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|kidney(3)|large_intestine(2)|lung(5)|ovary(1)|skin(1)	13				READ - Rectum adenocarcinoma(159;0.166)		GAACAAGAGACACTGCTGAGC	0.637								Homologous recombination																														ENST00000308110.4																			0				endometrium(1)|kidney(3)|large_intestine(2)|lung(5)|ovary(1)|skin(1)	13						c.(1552-1554)aCa>aTa	Homologous recombination	MUS81 structure-specific endonuclease subunit							99	101	101					11																	65633329		2201	4296	6497	SO:0001583	missense	80198				DNA recombination|DNA repair	nucleolus	3'-flap endonuclease activity|DNA binding|metal ion binding|protein binding	g.chr11:65633329C>T		CCDS8115.1	11q13	2013-07-03	2013-07-03			ENSG00000172732			29814	protein-coding gene	gene with protein product	"SLX3 structure-specific endonuclease subunit homolog (S. cerevisiae)"	606591	"MUS81 endonuclease homolog (yeast)", "MUS81 endonuclease homolog (S. cerevisiae)"			11741546, 12374758	Standard	NM_025128		Approved	FLJ44872, SLX3	uc001ofv.4	Q96NY9		ENST00000308110.4:c.1553C>T	11.37:g.65633329C>T	ENSP00000307853:p.Thr518Ile					MUS81_ENST00000525006.1_3'UTR|MUS81_ENST00000533035.1_Missense_Mutation_p.T443I	p.T518I	NM_025128.4	NP_079404.3	Q96NY9	MUS81_HUMAN		READ - Rectum adenocarcinoma(159;0.166)	15	1902	+			518					Q9H7D9	Missense_Mutation	SNP	ENST00000308110.4	37	c.1553C>T	CCDS8115.1	.	.	.	.	.	.	.	.	.	.	C	12.83	2.055692	0.36277	.	.	ENSG00000172732	ENST00000533035;ENST00000308110;ENST00000437855;ENST00000529742	T;T;T	0.44482	2.49;2.72;0.92	5.23	-2.49	0.06403	.	0.470755	0.24085	N	0.041690	T	0.19248	0.0462	N	0.24115	0.695	0.22266	N	0.999245	B	0.15930	0.015	B	0.15870	0.014	T	0.05289	-1.0894	10	0.38643	T	0.18	-3.4303	1.0271	0.01530	0.2399:0.3573:0.1321:0.2708	.	518	Q96NY9	MUS81_HUMAN	I	443;518;518;51	ENSP00000432287:T443I;ENSP00000307853:T518I;ENSP00000435277:T51I	ENSP00000307853:T518I	T	+	2	0	MUS81	65389905	0.992000	0.36948	0.935000	0.37517	0.680000	0.39746	0.177000	0.16801	-0.044000	0.13491	0.561000	0.74099	ACA		0.637	MUS81-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390941.3	NM_025128		5	217	0	0	0	0.184627	0	5	217					T	65633329	C	T	65633329	3	4	35	1	0	0	0	0	1	0	0	0	9988	478	17	3	1611	3	MUS81	11	65633329	Missense_Mutation	SNP	C	TCGA-CH-5769-01A-11D-1576-08	4082297	65633329	69373187	110	1847											
NUMA1	4926	broad.mit.edu	37	chr11	71725778	71725778	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cctgctgctcacctgccttgCgcaccaaggtctccaagcgg	6	8	10	17	2	2	0	1	0	1	0	3	0	2	0	5	2	5	3	5	2	2	1			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr11:71725778C>T	ENST00000393695.3	-	15	3102	c.2771G>A	c.(2770-2772)cGc>cAc	p.R924H	NUMA1_ENST00000351960.6_Intron|NUMA1_ENST00000358965.6_Missense_Mutation_p.R924H|RP11-849H4.4_ENST00000502284.1_RNA	NM_006185.2	NP_006176.2			nuclear mitotic apparatus protein 1									p.R924H(1)		central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	65						ACCTGCCTTGCGCACCAAGGT	0.602			T	RARA	APL																																	ENST00000393695.3				Dom	yes		11	11q13	4926	T	nuclear mitotic apparatus protein 1			L	RARA		APL		1	Substitution - Missense(1)	p.R924H(1)	prostate(1)	central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	65						c.(2770-2772)cGc>cAc		nuclear mitotic apparatus protein 1							57	57	57					11																	71725778		2200	4293	6493	SO:0001583	missense	0				G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization	chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole	protein binding|structural molecule activity	g.chr11:71725778C>T	Z11584	CCDS31633.1, CCDS66156.1	11q13	2008-02-05				ENSG00000137497			8059	protein-coding gene	gene with protein product		164009				8406455	Standard	NM_006185		Approved		uc001orl.1	Q14980		ENST00000393695.3:c.2771G>A	11.37:g.71725778C>T	ENSP00000377298:p.Arg924His					NUMA1_ENST00000358965.6_Missense_Mutation_p.R924H|NUMA1_ENST00000351960.6_Intron|RP11-849H4.4_ENST00000502284.1_RNA	p.R924H	NM_006185.2	NP_006176.2	Q14980	NUMA1_HUMAN			15	3102	-			924						Missense_Mutation	SNP	ENST00000393695.3	37	c.2771G>A	CCDS31633.1	.	.	.	.	.	.	.	.	.	.	C	18.65	3.669017	0.67814	.	.	ENSG00000137497	ENST00000358965;ENST00000393695;ENST00000359652	T;T	0.14391	2.51;2.52	5.69	3.76	0.43208	.	0.095304	0.44097	D	0.000496	T	0.23492	0.0568	L	0.46157	1.445	0.27555	N	0.950378	D;D;D;D	0.89917	0.999;1.0;0.999;0.999	P;D;P;P	0.63703	0.855;0.917;0.855;0.855	T	0.02202	-1.1196	9	.	.	.	.	8.0505	0.30575	0.1346:0.7303:0.0:0.1352	.	930;408;924;924	Q4LE64;Q59HB8;Q14980-2;Q14980	.;.;.;NUMA1_HUMAN	H	924;924;487	ENSP00000351851:R924H;ENSP00000377298:R924H	.	R	-	2	0	NUMA1	71403426	0.000000	0.05858	1.000000	0.80357	0.991000	0.79684	0.218000	0.17622	1.349000	0.45751	0.655000	0.94253	CGC		0.602	NUMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395769.1			9	144	0	0	0	0.361761	0	9	144					T	71725778	C	T	71725778	3	4	35	1	0	0	0	0	1	0	0	0	10750	768	27	1	3628	1	NUMA1	11	71725778	Missense_Mutation	SNP	C	TCGA-CH-5769-01A-11D-1576-08	6092449	71725778	63280738	111	1848											
FOLR2	2350	broad.mit.edu	37	chr11	71932028	71932028	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actgcggcaagatggagcccGcctgcaagcgccacttcatc	9	6	11	15	3	1	1	1	0	0	1	2	2	1	2	3	2	4	2	3	2	2	1	rs140643936	byFrequency	TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr11:71932028G>A	ENST00000298223.6	+	3	452	c.265G>A	c.(265-267)Gcc>Acc	p.A89T	FOLR2_ENST00000449475.2_Missense_Mutation_p.A106T|FOLR2_ENST00000454954.2_Missense_Mutation_p.A48T	NM_000803.4|NM_001113534.1|NM_001113535.1|NM_001113536.1	NP_000794.3|NP_001107006.1|NP_001107007.1|NP_001107008.1	P14207	FOLR2_HUMAN	folate receptor 2 (fetal)	89					folic acid transport (GO:0015884)	anchored component of external side of plasma membrane (GO:0031362)|extracellular region (GO:0005576)|membrane (GO:0016020)	folic acid binding (GO:0005542)|folic acid transporter activity (GO:0008517)			breast(3)|large_intestine(3)|ovary(1)|skin(1)	8					Folic Acid(DB00158)	GATGGAGCCCGCCTGCAAGCG	0.622													G|||	4	0.000798722	0	0	5008	,	,		13025	0		0	False		,,,				2504	0.0041					ENST00000449475.2																			0				breast(3)|large_intestine(3)|ovary(1)|skin(1)	8						c.(316-318)Gcc>Acc		folate receptor 2 (fetal)	Folic Acid(DB00158)						38	39	39					11																	71932028		2200	4293	6493	SO:0001583	missense	2350				folic acid transport	anchored to membrane|extracellular region|membrane fraction|plasma membrane	folic acid binding|receptor activity	g.chr11:71932028G>A	AK222539	CCDS8212.1	11q13.3-q14.1	2010-04-08			ENSG00000165457	ENSG00000165457			3793	protein-coding gene	gene with protein product		136425				1133088, 7698003	Standard	NM_000803		Approved		uc009ytf.3	P14207	OTTHUMG00000150394	ENST00000298223.6:c.265G>A	11.37:g.71932028G>A	ENSP00000298223:p.Ala89Thr					FOLR2_ENST00000298223.6_Missense_Mutation_p.A89T|FOLR2_ENST00000454954.2_Missense_Mutation_p.A48T	p.A106T			P14207	FOLR2_HUMAN			3	614	+			89					Q05CA5|Q6GTE8	Missense_Mutation	SNP	ENST00000298223.6	37	c.316G>A	CCDS8212.1	.	.	.	.	.	.	.	.	.	.	g	15.56	2.870354	0.51588	.	.	ENSG00000165457	ENST00000449475;ENST00000298223;ENST00000413873;ENST00000454954;ENST00000541003;ENST00000539412;ENST00000536778;ENST00000535625;ENST00000321324;ENST00000538353	T;T;T;T;T;T;T;T;T	0.76968	-1.06;-1.06;-1.06;-1.06;-1.06;-1.06;-1.06;-1.06;-1.06	4.37	1.46	0.22682	Folate receptor-like (1);	0.945507	0.08793	N	0.892873	T	0.77532	0.4144	M	0.90019	3.08	0.09310	N	1	P	0.35959	0.53	B	0.31101	0.124	T	0.61642	-0.7021	10	0.25106	T	0.35	.	7.8424	0.29406	0.3644:0.0:0.6356:0.0	.	89	P14207	FOLR2_HUMAN	T	106;89;106;48;135;100;104;89;102;89	ENSP00000405638:A106T;ENSP00000298223:A89T;ENSP00000414094:A48T;ENSP00000443307:A135T;ENSP00000441547:A100T;ENSP00000438568:A104T;ENSP00000444794:A89T;ENSP00000321957:A102T;ENSP00000440337:A89T	ENSP00000298223:A89T	A	+	1	0	FOLR2	71609676	0.002000	0.14202	0.261000	0.24466	0.928000	0.56348	0.657000	0.24963	0.130000	0.18549	0.455000	0.32223	GCC		0.622	FOLR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317923.2	NM_000803		7	56	0	0	0	0.248553	0	7	56					A	71932028	G	A	71932028	3	1	35	1	0	0	0	0	1	0	0	0	5982	1087	38	1	271	1	FOLR2	11	71932028	Missense_Mutation	SNP	G	TCGA-CH-5769-01A-11D-1576-08	206250	71932028	63074488	112	1849											
SIDT2	51092	broad.mit.edu	37	chr11	117060951	117060951	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cttttcctgctcatcatcctGcaacgggagatcaaccacaa	11	10	6	14	1	3	1	3	0	0	1	5	2	5	1	3	1	4	2	3	1	3	2			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr11:117060951G>A	ENST00000324225.4	+	17	2094	c.1563G>A	c.(1561-1563)ctG>ctA	p.L521L	SIDT2_ENST00000532062.1_5'Flank|SIDT2_ENST00000431081.2_Silent_p.L518L	NM_001040455.1	NP_001035545.1	Q8NBJ9	SIDT2_HUMAN	SID1 transmembrane family, member 2	521					cell morphogenesis (GO:0000902)|dsRNA transport (GO:0033227)|glucose homeostasis (GO:0042593)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|response to glucose (GO:0009749)|type B pancreatic cell development (GO:0003323)|type B pancreatic cell proliferation (GO:0044342)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	RNA transmembrane transporter activity (GO:0051033)			NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	36	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.69e-05)|Epithelial(105;0.000219)|all cancers(92;0.00144)		TCATCATCCTGCAACGGGAGA	0.602																																						ENST00000324225.4																			0				NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	36						c.(1561-1563)ctG>ctA		SID1 transmembrane family, member 2							148	137	141					11																	117060951		2201	4296	6497	SO:0001819	synonymous_variant	51092					integral to membrane|lysosomal membrane		g.chr11:117060951G>A	AF151799	CCDS31682.1	11q23.3	2008-02-05			ENSG00000149577	ENSG00000149577			24272	protein-coding gene	gene with protein product						10810093, 12975309	Standard	NM_001040455		Approved	CGI-40	uc001pqh.1	Q8NBJ9	OTTHUMG00000167065	ENST00000324225.4:c.1563G>A	11.37:g.117060951G>A						SIDT2_ENST00000431081.2_Silent_p.L518L	p.L521L	NM_001040455.1	NP_001035545.1	Q8NBJ9	SIDT2_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.69e-05)|Epithelial(105;0.000219)|all cancers(92;0.00144)	17	2094	+	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)	521					Q8NBY7|Q9Y357	Silent	SNP	ENST00000324225.4	37	c.1563G>A	CCDS31682.1																																																																																				0.602	SIDT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392836.1	NM_015996		5	183	0	0	0	0.217242	0	5	183					A	117060951	G	A	117060951	2	1	35	1	0	0	0	0	0	0	0	1	14303	1306	46	3		3	SIDT2	11	117060951	Silent	SNP	G	TCGA-CH-5769-01A-11D-1576-08	45128923	117060951	17945565	113	1850											
MLL	4297	broad.mit.edu	37	chr11	118371737	118371737	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctggagcaccacagatgctcGcaagcgctgtgtatatacat	11	9	10	11	2	0	1	0	0	0	1	1	2	0	2	1	1	4	5	1	1	4	3			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr11:118371737G>A	ENST00000389506.5	+	25	6185	c.6185G>A	c.(6184-6186)cGc>cAc	p.R2062H	KMT2A_ENST00000354520.4_Missense_Mutation_p.R2024H|KMT2A_ENST00000534358.1_Missense_Mutation_p.R2065H			Q03164	KMT2A_HUMAN	lysine (K)-specific methyltransferase 2A	2062	FYR N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00875}.				anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|DNA methylation (GO:0006306)|embryonic hemopoiesis (GO:0035162)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|histone H4-K16 acetylation (GO:0043984)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cellular response to drug (GO:2001040)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transporter activity (GO:0032411)|protein complex assembly (GO:0006461)|regulation of histone H3-K4 methylation (GO:0051569)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|histone methyltransferase complex (GO:0035097)|MLL1 complex (GO:0071339)|nucleus (GO:0005634)	AT DNA binding (GO:0003680)|chromatin binding (GO:0003682)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|identical protein binding (GO:0042802)|lysine-acetylated histone binding (GO:0070577)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|unmethylated CpG binding (GO:0045322)|zinc ion binding (GO:0008270)										ACAGATGCTCGCAAGCGCTGT	0.458																																						ENST00000534358.1																			0											c.(6193-6195)cGc>cAc		lysine (K)-specific methyltransferase 2A							121	99	107					11																	118371737		2200	4296	6496	SO:0001583	missense	4297							g.chr11:118371737G>A	L04284	CCDS31686.1, CCDS55791.1	11q23	2014-09-17	2013-05-09	2013-05-09	ENSG00000118058	ENSG00000118058		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	7132	protein-coding gene	gene with protein product		159555	"myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog)", "myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila)"	MLL		1720549	Standard	NM_001197104		Approved	TRX1, HRX, ALL-1, HTRX1, CXXC7, MLL1A		Q03164	OTTHUMG00000166337	ENST00000389506.5:c.6185G>A	11.37:g.118371737G>A	ENSP00000374157:p.Arg2062His					KMT2A_ENST00000354520.4_Missense_Mutation_p.R2024H|KMT2A_ENST00000389506.5_Missense_Mutation_p.R2062H	p.R2065H	NM_001197104.1|NM_005933.3	NP_001184033.1|NP_005924.2					25	6217	+								E9PQG7|Q13743|Q13744|Q14845|Q16364|Q59FF2|Q6UBD1|Q9HBJ3|Q9UD94|Q9UMA3	Missense_Mutation	SNP	ENST00000389506.5	37	c.6194G>A	CCDS31686.1	.	.	.	.	.	.	.	.	.	.	G	25.0	4.595749	0.86953	.	.	ENSG00000118058	ENST00000534358;ENST00000389506;ENST00000354520;ENST00000359313	T;T;T	0.78364	-1.17;-1.17;-1.17	5.62	5.62	0.85841	FY-rich, N-terminal (1);FY-rich, N-terminal subgroup (1);	0.000000	0.85682	D	0.000000	D	0.85940	0.5814	L	0.49350	1.555	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	D	0.85144	0.0982	10	0.48119	T	0.1	.	19.6664	0.95894	0.0:0.0:1.0:0.0	.	2065;2062	E9PQG7;Q03164	.;MLL1_HUMAN	H	2065;2062;2024;972	ENSP00000436786:R2065H;ENSP00000374157:R2062H;ENSP00000346516:R2024H	ENSP00000346516:R2024H	R	+	2	0	MLL	117876947	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.827000	0.99397	2.640000	0.89533	0.591000	0.81541	CGC		0.458	KMT2A-015	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399085.2	NM_005933		6	100	0	0	0	0.217242	0	6	100					A	118371737	G	A	118371737	3	1	35	1	0	0	0	0	1	0	0	0	9620	1087	38	1	6283	1	MLL	11	118371737	Missense_Mutation	SNP	G	TCGA-CH-5769-01A-11D-1576-08	1310786	118371737	16634779	114	1851											
IGSF9B	22997	broad.mit.edu	37	chr11	133799647	133799647	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgtcatggagacctggaccCggacactgcccggggcatgg	7	7	15	12	2	1	1	1	0	0	1	1	4	1	3	3	6	1	1	3	6	0	1			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr11:133799647C>T	ENST00000321016.8	-	12	1780	c.1550G>A	c.(1549-1551)cGg>cAg	p.R517Q	IGSF9B_ENST00000533871.2_Missense_Mutation_p.R517Q			Q9UPX0	TUTLB_HUMAN	immunoglobulin superfamily, member 9B	517	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				homophilic cell adhesion (GO:0007156)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)	dendrite (GO:0030425)|inhibitory synapse (GO:0060077)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)		p.R517Q(1)		breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)		GACCTGGACCCGGACACTGCC	0.597																																						ENST00000321016.8																			1	Substitution - Missense(1)	p.R517Q(1)	prostate(1)	breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						c.(1549-1551)cGg>cAg		immunoglobulin superfamily, member 9B							90	100	97					11																	133799647		2034	4169	6203	SO:0001583	missense	22997					integral to membrane|plasma membrane		g.chr11:133799647C>T	AK097578	CCDS61010.1	11q25	2013-02-11	2005-10-12	2005-11-20				"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	32326	protein-coding gene	gene with protein product		613773					Standard	NM_001277285		Approved	KIAA1030	uc031qfh.1	Q9UPX0		ENST00000321016.8:c.1550G>A	11.37:g.133799647C>T	ENSP00000317980:p.Arg517Gln					IGSF9B_ENST00000533871.2_Missense_Mutation_p.R517Q	p.R517Q			Q9UPX0	TUTLB_HUMAN		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)	12	1780	-	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)	517			Fibronectin type-III 1.		G5EA26	Missense_Mutation	SNP	ENST00000321016.8	37	c.1550G>A		.	.	.	.	.	.	.	.	.	.	C	18.07	3.541613	0.65085	.	.	ENSG00000080854	ENST00000321016;ENST00000533871;ENST00000527648	T;T;T	0.56941	0.43;0.43;0.43	5.37	5.37	0.77165	Fibronectin, type III (4);Immunoglobulin-like fold (1);	.	.	.	.	T	0.38241	0.1033	N	0.21373	0.66	0.37423	D	0.913723	B	0.19935	0.04	B	0.25884	0.064	T	0.32929	-0.9888	9	0.15066	T	0.55	.	12.9003	0.58121	0.0:0.9155:0.0:0.0845	.	517	Q9UPX0	TUTLB_HUMAN	Q	517;359;517	ENSP00000317980:R517Q;ENSP00000436552:R359Q;ENSP00000436576:R517Q	ENSP00000317980:R517Q	R	-	2	0	IGSF9B	133304857	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.339000	0.43965	2.505000	0.84491	0.655000	0.94253	CGG		0.597	IGSF9B-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		XM_290502		9	106	0	0	0	0.38729	0	9	106					T	133799647	C	T	133799647	3	4	35	1	0	0	0	0	1	0	0	0	7606	652	23	2	2531	2	IGSF9B	11	133799647	Missense_Mutation	SNP	C	TCGA-CH-5769-01A-11D-1576-08	15427910	133799647	1206869	115	1852											
KDM5A	5927	broad.mit.edu	37	chr12	416960	416960	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccagctggatcctttttttTgggaacttgatttaggaaga	9	15	11	6	0	0	2	0	1	0	1	1	5	1	5	2	3	2	1	2	3	3	7			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr12:416960T>G	ENST00000399788.2	-	23	3952	c.3590A>C	c.(3589-3591)cAa>cCa	p.Q1197P	KDM5A_ENST00000382815.4_Missense_Mutation_p.Q1197P	NM_001042603.1	NP_001036068.1	P29375	KDM5A_HUMAN	lysine (K)-specific demethylase 5A	1197					chromatin modification (GO:0016568)|circadian regulation of gene expression (GO:0032922)|multicellular organismal development (GO:0007275)|negative regulation of histone deacetylase activity (GO:1901726)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			NS(2)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(29)|ovary(1)|prostate(5)|skin(6)|stomach(1)|urinary_tract(2)	77						TCCTTTTTTTTGGGAACTTGA	0.468			T	NUP98	AML																																	ENST00000399788.2				Dom	yes		12	12p11	5927	T	"lysine (K)-specific demethylase 5A, JARID1A"			L	NUP98		AML		0				NS(2)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(29)|ovary(1)|prostate(5)|skin(6)|stomach(1)|urinary_tract(2)	77						c.(3589-3591)cAa>cCa		lysine (K)-specific demethylase 5A							110	106	107					12																	416960		1898	4122	6020	SO:0001583	missense	5927				chromatin modification|multicellular organismal development|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleolus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr12:416960T>G		CCDS41736.1	12p13.33	2013-01-28	2009-04-06	2009-04-06	ENSG00000073614	ENSG00000073614		"Chromatin-modifying enzymes / K-demethylases", "Zinc fingers, PHD-type"	9886	protein-coding gene	gene with protein product		180202	"retinoblastoma-binding protein 2", "Jumonji, AT rich interactive domain 1A (RBBP2-like)", "jumonji, AT rich interactive domain 1A"	RBBP2, JARID1A		1857421	Standard	NM_001042603		Approved		uc001qif.1	P29375	OTTHUMG00000168055	ENST00000399788.2:c.3590A>C	12.37:g.416960T>G	ENSP00000382688:p.Gln1197Pro					KDM5A_ENST00000382815.4_Missense_Mutation_p.Q1197P	p.Q1197P	NM_001042603.1	NP_001036068.1	P29375	KDM5A_HUMAN			23	3952	-			1197					A8MV76|Q4LE72|Q86XZ1	Missense_Mutation	SNP	ENST00000399788.2	37	c.3590A>C	CCDS41736.1	.	.	.	.	.	.	.	.	.	.	T	11.40	1.626955	0.28978	.	.	ENSG00000073614	ENST00000399788;ENST00000382815	D;D	0.84589	-1.87;-1.87	5.66	5.66	0.87406	Zinc finger, PHD-finger (2);Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, PHD-type, conserved site (1);Zinc finger, PHD-type (1);Zinc finger, FYVE/PHD-type (1);	0.053973	0.85682	D	0.000000	T	0.78886	0.4354	N	0.25825	0.765	0.53688	D	0.999979	B;B	0.19935	0.029;0.04	B;B	0.22386	0.039;0.023	T	0.74115	-0.3769	10	0.41790	T	0.15	-8.5862	16.1762	0.81855	0.0:0.0:0.0:1.0	.	1197;1197	P29375;P29375-2	KDM5A_HUMAN;.	P	1197	ENSP00000382688:Q1197P;ENSP00000372265:Q1197P	ENSP00000372265:Q1197P	Q	-	2	0	KDM5A	287221	1.000000	0.71417	1.000000	0.80357	0.895000	0.52256	4.800000	0.62524	2.283000	0.76528	0.477000	0.44152	CAA		0.468	KDM5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397812.1	NM_005056		4	156	0	0	0	0.184627	0	4	156					G	416960	T	G	416960	3	3	35	1	0	0	0	0	1	0	0	0	8133	1812	63	5	1506	5	KDM5A	12	416960	Missense_Mutation	SNP	T	TCGA-CH-5769-01A-11D-1576-08		416960	133434935	116	1853											
NOP2	4839	broad.mit.edu	37	chr12	6669363	6669363	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtagaagcgtcgggtagaacGcagactggggtggaagcgcc	10	5	18	8	4	0	3	0	0	0	3	1	4	0	4	1	4	3	3	1	4	5	2			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr12:6669363G>A	ENST00000322166.5	-	15	1811	c.1690C>T	c.(1690-1692)Cgt>Tgt	p.R564C	NOP2_ENST00000382421.3_Missense_Mutation_p.R597C|NOP2_ENST00000537442.1_Missense_Mutation_p.R564C|NOP2_ENST00000542015.1_5'UTR|NOP2_ENST00000399466.2_Missense_Mutation_p.R560C|NOP2_ENST00000545200.1_Missense_Mutation_p.R560C|NOP2_ENST00000541778.1_Missense_Mutation_p.R560C	NM_001258308.1|NM_006170.3	NP_001245237.1|NP_006161.2	P46087	NOP2_HUMAN	NOP2 nucleolar protein	564					positive regulation of cell proliferation (GO:0008284)|rRNA processing (GO:0006364)	nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|S-adenosylmethionine-dependent methyltransferase activity (GO:0008757)			breast(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	19						CGGGTAGAACGCAGACTGGGG	0.512																																						ENST00000541778.1																			0				breast(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	19						c.(1678-1680)Cgt>Tgt		NOP2 nucleolar protein							85	88	87					12																	6669363		1907	4135	6042	SO:0001583	missense	4839				positive regulation of cell proliferation|rRNA processing	nucleolus	protein binding|RNA binding|S-adenosylmethionine-dependent methyltransferase activity	g.chr12:6669363G>A		CCDS44811.1, CCDS58202.1, CCDS58203.1, CCDS58204.1	12p13	2012-12-10	2012-12-10	2008-10-13	ENSG00000111641	ENSG00000111641		"NOP2/Sun domain containing"	7867	protein-coding gene	gene with protein product	"NOP2/Sun domain family, member 1"	164031	"nucleolar protein 1 (120kD)", "nucleolar protein 1, 120kDa", "nucleolar protein 2 homolog (yeast)", "NOP2 nucleolar protein homolog (yeast)"	NOL1		8088812	Standard	NM_006170		Approved	NOP120, NSUN1, p120	uc021qtz.2	P46087	OTTHUMG00000169163	ENST00000322166.5:c.1690C>T	12.37:g.6669363G>A	ENSP00000313272:p.Arg564Cys					NOP2_ENST00000322166.5_Missense_Mutation_p.R564C|NOP2_ENST00000545200.1_Missense_Mutation_p.R560C|NOP2_ENST00000537442.1_Missense_Mutation_p.R564C|NOP2_ENST00000399466.2_Missense_Mutation_p.R560C|NOP2_ENST00000542015.1_5'UTR|NOP2_ENST00000382421.3_Missense_Mutation_p.R597C	p.R560C			P46087	NOP2_HUMAN			15	2166	-			564					A1A4Z3|B3KPD6|Q05BA7|Q0P5S5|Q3KQS4|Q58F30	Missense_Mutation	SNP	ENST00000322166.5	37	c.1678C>T	CCDS58203.1	.	.	.	.	.	.	.	.	.	.	G	12.62	1.993192	0.35131	.	.	ENSG00000111641	ENST00000537442;ENST00000382421;ENST00000545200;ENST00000399466;ENST00000322166;ENST00000541778	T;T;T;T;T;T	0.23754	1.89;1.89;1.89;1.89;1.89;1.89	4.95	4.95	0.65309	.	0.427450	0.26055	N	0.026609	T	0.28001	0.0690	L	0.58810	1.83	0.80722	D	1	P;P	0.38395	0.629;0.587	B;B	0.37346	0.159;0.247	T	0.08289	-1.0729	10	0.72032	D	0.01	-11.7561	13.1847	0.59673	0.0:0.0:0.8011:0.1989	.	560;560	Q05BA7;P46087-2	.;.	C	564;597;560;560;564;560	ENSP00000444437:R564C;ENSP00000371858:R597C;ENSP00000439422:R560C;ENSP00000382392:R560C;ENSP00000313272:R564C;ENSP00000443150:R560C	ENSP00000313272:R564C	R	-	1	0	NOP2	6539624	1.000000	0.71417	0.998000	0.56505	0.589000	0.36550	3.642000	0.54367	2.569000	0.86673	0.655000	0.94253	CGT		0.512	NOP2-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402614.1	NM_006170		8	110	0	0	0	0.27861	0	8	110					A	6669363	G	A	6669363	3	1	35	1	0	0	0	0	1	0	0	0	10538	1087	38	1	756	1	NOP2	12	6669363	Missense_Mutation	SNP	G	TCGA-CH-5769-01A-11D-1576-08	6252403	6669363	127182532	117	1854											
MFAP5	8076	broad.mit.edu	37	chr12	8804283	8804283	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gtggtatttttttcactgagGgaggctgaaaggcagaaatt	11	13	13	4	0	1	3	1	2	0	1	1	4	1	4	0	4	0	3	0	4	3	5			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr12:8804283G>T	ENST00000359478.2	-	7	409	c.222C>A	c.(220-222)tcC>tcA	p.S74S	MFAP5_ENST00000538107.1_5'Flank|MFAP5_ENST00000396549.2_Intron|MFAP5_ENST00000433590.2_Intron|MFAP5_ENST00000543369.1_Intron|MFAP5_ENST00000535336.1_Intron|MFAP5_ENST00000540087.1_Intron	NM_003480.2	NP_003471.1	Q13361	MFAP5_HUMAN	microfibrillar associated protein 5	74					extracellular fibril organization (GO:0043206)|extracellular matrix organization (GO:0030198)	extracellular region (GO:0005576)|microfibril (GO:0001527)	extracellular matrix structural constituent (GO:0005201)			breast(1)|endometrium(2)|large_intestine(4)|lung(5)|skin(1)	13	Lung SC(5;0.184)					TTTCACTGAGGGAGGCTGAAA	0.433																																						ENST00000359478.2																			0				breast(1)|endometrium(2)|large_intestine(4)|lung(5)|skin(1)	13						c.(220-222)tcC>tcA		microfibrillar associated protein 5							142	134	137					12																	8804283		2203	4300	6503	SO:0001819	synonymous_variant	8076					microfibril	extracellular matrix structural constituent	g.chr12:8804283G>T	AK124368	CCDS8595.1, CCDS73437.1	12p13.1-p12.3	2004-04-05				ENSG00000197614			29673	protein-coding gene	gene with protein product		601103				9792630, 8557636	Standard	XM_005253485		Approved	MAGP2, MP25	uc001qut.1	Q13361		ENST00000359478.2:c.222C>A	12.37:g.8804283G>T						MFAP5_ENST00000543369.1_Intron|MFAP5_ENST00000396549.2_Intron|MFAP5_ENST00000540087.1_Intron|MFAP5_ENST00000433590.2_Intron|MFAP5_ENST00000535336.1_Intron	p.S74S	NM_003480.2	NP_003471.1	Q13361	MFAP5_HUMAN			7	409	-	Lung SC(5;0.184)		74					B0AZL6|D3DUV1|Q7Z490	Silent	SNP	ENST00000359478.2	37	c.222C>A	CCDS8595.1	.	.	.	.	.	.	.	.	.	.	G	0.020	-1.443480	0.01089	.	.	ENSG00000197614	ENST00000535411	.	.	.	4.33	-8.66	0.00866	.	.	.	.	.	T	0.17238	0.0414	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.17561	-1.0365	4	.	.	.	3.0584	4.1641	0.10298	0.0995:0.1391:0.209:0.5525	.	.	.	.	H	64	.	.	P	-	2	0	MFAP5	8695550	0.000000	0.05858	0.000000	0.03702	0.037000	0.13140	-3.078000	0.00615	-1.983000	0.00987	-1.058000	0.02302	CCC		0.433	MFAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400656.2	NM_003480		8	167	1	0	1.58986e-06	0.361761	1.71343e-06	8	167					T	8804283	G	T	8804283	2	4	35	1	0	0	0	0	0	0	0	1	9518	1219	43	5		5	MFAP5	12	8804283	Silent	SNP	G	TCGA-CH-5769-01A-11D-1576-08	2134920	8804283	125047612	118	1855											
DDX23	9416	broad.mit.edu	37	chr12	49237789	49237789	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gatctcggtccttcttattcCgatcccgctccttatctcgt	4	16	6	15	4	3	0	0	0	3	0	9	2	7	0	4	1	0	1	4	1	2	4			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr12:49237789C>T	ENST00000308025.3	-	3	333	c.254G>A	c.(253-255)cGg>cAg	p.R85Q	DDX23_ENST00000553182.1_5'UTR	NM_004818.2	NP_004809.2	Q9BUQ8	DDX23_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 23	85	Arg-rich.				ATP catabolic process (GO:0006200)|cis assembly of pre-catalytic spliceosome (GO:0000354)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|U5 snRNP (GO:0005682)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|poly(A) RNA binding (GO:0044822)	p.R85Q(1)		NS(1)|cervix(1)|kidney(4)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(3)	36						CTTCTTATTCCGATCCCGCTC	0.488																																						ENST00000308025.3																			1	Substitution - Missense(1)	p.R85Q(1)	prostate(1)	NS(1)|cervix(1)|kidney(4)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(3)	36						c.(253-255)cGg>cAg		DEAD (Asp-Glu-Ala-Asp) box polypeptide 23							402	342	362					12																	49237789		2203	4300	6503	SO:0001583	missense	9416					catalytic step 2 spliceosome|nucleoplasm|U5 snRNP	ATP binding|ATP-dependent RNA helicase activity|nucleic acid binding|protein binding	g.chr12:49237789C>T	AF026402	CCDS8770.1	12q13.11	2013-07-16				ENSG00000174243		"DEAD-boxes"	17347	protein-coding gene	gene with protein product		612172	"PRP28 homolog, yeast"			9409622, 9539711	Standard	NM_004818		Approved	prp28, U5-100K, PRPF28, SNRNP100	uc001rsm.3	Q9BUQ8		ENST00000308025.3:c.254G>A	12.37:g.49237789C>T	ENSP00000310723:p.Arg85Gln					DDX23_ENST00000553182.1_5'UTR	p.R85Q	NM_004818.2	NP_004809.2	Q9BUQ8	DDX23_HUMAN			3	333	-			85			Arg-rich.		B2R600|B4DH15|O43188	Missense_Mutation	SNP	ENST00000308025.3	37	c.254G>A	CCDS8770.1	.	.	.	.	.	.	.	.	.	.	C	26.7	4.758289	0.89843	.	.	ENSG00000174243	ENST00000308025;ENST00000552512;ENST00000551468	T	0.22336	1.96	5.39	5.39	0.77823	.	0.122643	0.48286	D	0.000181	T	0.25865	0.0630	L	0.34521	1.04	0.51767	D	0.999932	P	0.44241	0.829	P	0.49528	0.614	T	0.00797	-1.1562	10	0.30854	T	0.27	-1.0345	16.0682	0.80903	0.0:1.0:0.0:0.0	.	85	Q9BUQ8	DDX23_HUMAN	Q	85	ENSP00000310723:R85Q	ENSP00000310723:R85Q	R	-	2	0	DDX23	47524056	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.295000	0.72744	2.526000	0.85167	0.591000	0.81541	CGG		0.488	DDX23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408897.2	NM_004818		21	382	0	0	0	0.608945	0	21	382					T	49237789	C	T	49237789	3	4	35	1	0	0	0	0	1	0	0	0	4350	652	23	2	2268	2	DDX23	12	49237789	Missense_Mutation	SNP	C	TCGA-CH-5769-01A-11D-1576-08	40433506	49237789	84614106	119	1856											
TIMELESS	8914	broad.mit.edu	37	chr12	56817644	56817644	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttcctctggagaaatgtcttGagagccaaacacatctcctt	11	12	7	11	0	3	2	0	1	3	2	5	4	4	2	3	1	2	0	3	1	2	3			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr12:56817644G>C	ENST00000553532.1	-	16	2053	c.1903C>G	c.(1903-1905)Caa>Gaa	p.Q635E	TIMELESS_ENST00000554616.1_Intron|TIMELESS_ENST00000229201.4_Missense_Mutation_p.Q634E					timeless circadian clock											NS(1)|breast(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(8)|lung(14)|ovary(7)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	49						GAAATGTCTTGAGAGCCAAAC	0.473																																						ENST00000229201.4																			0				NS(1)|breast(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(8)|lung(14)|ovary(7)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	49						c.(1900-1902)Caa>Gaa		timeless circadian clock							119	113	115					12																	56817644		2203	4300	6503	SO:0001583	missense	8914				cell division|circadian rhythm|detection of abiotic stimulus|mitosis|morphogenesis of an epithelium|negative regulation of transcription, DNA-dependent|regulation of S phase|response to DNA damage stimulus|transcription, DNA-dependent	nuclear chromatin		g.chr12:56817644G>C	AF098162	CCDS8918.1	12q13.3	2012-12-14	2012-12-14		ENSG00000111602	ENSG00000111602			11813	protein-coding gene	gene with protein product	"Tof1 homolog (S. cerevisiae)", "timeless circadian clock 1"	603887	"timeless (Drosophila) homolog", "timeless homolog (Drosophila)"			9856465	Standard	NM_003920		Approved	hTIM, TIM, TIM1	uc001slf.2	Q9UNS1	OTTHUMG00000170600	ENST00000553532.1:c.1903C>G	12.37:g.56817644G>C	ENSP00000450607:p.Gln635Glu					TIMELESS_ENST00000554616.1_Intron|TIMELESS_ENST00000553532.1_Missense_Mutation_p.Q635E	p.Q634E	NM_003920.3	NP_003911.2	Q9UNS1	TIM_HUMAN			16	2054	-			635						Missense_Mutation	SNP	ENST00000553532.1	37	c.1900C>G	CCDS8918.1	.	.	.	.	.	.	.	.	.	.	G	2.402	-0.337352	0.05278	.	.	ENSG00000111602	ENST00000229201;ENST00000553532	T;T	0.05786	3.39;3.39	5.26	3.34	0.38264	.	0.547216	0.18633	N	0.135528	T	0.04227	0.0117	N	0.19112	0.55	0.80722	D	1	B	0.15473	0.013	B	0.13407	0.009	T	0.43048	-0.9415	10	0.18276	T	0.48	-0.2226	8.9307	0.35668	0.0801:0.4407:0.4791:0.0	.	635	Q9UNS1	TIM_HUMAN	E	634;635	ENSP00000229201:Q634E;ENSP00000450607:Q635E	ENSP00000229201:Q635E	Q	-	1	0	TIMELESS	55103911	0.994000	0.37717	1.000000	0.80357	0.980000	0.70556	1.003000	0.29809	0.658000	0.30925	0.561000	0.74099	CAA		0.473	TIMELESS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000409771.1	NM_003920		4	133	0	0	0	0.184627	0	4	133					C	56817644	G	C	56817644	3	2	35	1	0	0	0	0	1	0	0	0	15901	1299	45	5	1779	5	TIMELESS	12	56817644	Missense_Mutation	SNP	G	TCGA-CH-5769-01A-11D-1576-08	7579855	56817644	77034251	120	1857											
TRPV4	59341	broad.mit.edu	37	chr12	110226321	110226321	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gatgatgtaggtcaccagcaGgatgatgaagaccacggggt	12	7	15	7	1	1	4	1	3	0	1	1	6	1	5	2	4	1	2	2	4	2	1			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr12:110226321G>T	ENST00000418703.2	-	12	2186	c.2092C>A	c.(2092-2094)Ctg>Atg	p.L698M	TRPV4_ENST00000537083.1_Missense_Mutation_p.L638M|TRPV4_ENST00000261740.2_Missense_Mutation_p.L698M|TRPV4_ENST00000544971.1_Missense_Mutation_p.L591M|TRPV4_ENST00000392719.2_Missense_Mutation_p.L651M|TRPV4_ENST00000346520.2_Missense_Mutation_p.L638M|TRPV4_ENST00000541794.1_Missense_Mutation_p.L651M|TRPV4_ENST00000536838.1_Missense_Mutation_p.L664M	NM_001177431.1	NP_001170902.1	Q9HBA0	TRPV4_HUMAN	transient receptor potential cation channel, subfamily V, member 4	698					actin cytoskeleton reorganization (GO:0031532)|actin filament organization (GO:0007015)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cell death (GO:0008219)|cell volume homeostasis (GO:0006884)|cell-cell junction assembly (GO:0007043)|cellular calcium ion homeostasis (GO:0006874)|cellular hypotonic response (GO:0071476)|cellular response to heat (GO:0034605)|cellular response to osmotic stress (GO:0071470)|cortical microtubule organization (GO:0043622)|hyperosmotic salinity response (GO:0042538)|ion transmembrane transport (GO:0034220)|microtubule polymerization (GO:0046785)|negative regulation of neuron projection development (GO:0010977)|osmosensory signaling pathway (GO:0007231)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of microtubule depolymerization (GO:0031117)|regulation of response to osmotic stress (GO:0047484)|response to mechanical stimulus (GO:0009612)|transmembrane transport (GO:0055085)|vasopressin secretion (GO:0030103)	adherens junction (GO:0005912)|cell surface (GO:0009986)|cilium (GO:0005929)|cortical actin cytoskeleton (GO:0030864)|cytoplasmic microtubule (GO:0005881)|cytoplasmic vesicle (GO:0031410)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|alpha-tubulin binding (GO:0043014)|ATP binding (GO:0005524)|beta-tubulin binding (GO:0048487)|calcium channel activity (GO:0005262)|calmodulin binding (GO:0005516)|cation channel activity (GO:0005261)|microtubule binding (GO:0008017)|osmosensor activity (GO:0005034)|protein kinase binding (GO:0019901)|protein kinase C binding (GO:0005080)|SH2 domain binding (GO:0042169)	p.L698M(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(2)|skin(4)|stomach(1)	35						GTCACCAGCAGGATGATGAAG	0.567																																						ENST00000418703.2																			1	Substitution - Missense(1)	p.L698M(1)	prostate(1)	breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(2)|skin(4)|stomach(1)	35						c.(2092-2094)Ctg>Atg		transient receptor potential cation channel, subfamily V, member 4							220	170	187					12																	110226321		2203	4300	6503	SO:0001583	missense	59341				actin cytoskeleton reorganization|actin filament organization|calcium ion import|cell death|cell volume homeostasis|cell-cell junction assembly|cellular hypotonic response|cortical microtubule organization|elevation of cytosolic calcium ion concentration|microtubule polymerization|negative regulation of neuron projection development|osmosensory signaling pathway|positive regulation of microtubule depolymerization|response to mechanical stimulus	cortical actin cytoskeleton|filopodium|focal adhesion|growth cone|integral to membrane|lamellipodium|ruffle membrane	actin filament binding|alpha-tubulin binding|beta-tubulin binding|calcium channel activity|calmodulin binding|microtubule binding|protein binding|protein kinase C binding|SH2 domain binding	g.chr12:110226321G>T	AF263523	CCDS9134.1, CCDS9135.1, CCDS53827.1, CCDS53828.1, CCDS53829.1	12q24.1	2014-09-17				ENSG00000111199		"Voltage-gated ion channels / Transient receptor potential cation channels", "Ankyrin repeat domain containing"	18083	protein-coding gene	gene with protein product	"osmosensitive transient receptor potential channel 4"	605427				11025659, 11081638, 16382100, 20037587	Standard	NM_147204		Approved	OTRPC4, TRP12, VROAC, VRL-2, VR-OAC, CMT2C	uc001tpk.2	Q9HBA0		ENST00000418703.2:c.2092C>A	12.37:g.110226321G>T	ENSP00000406191:p.Leu698Met					TRPV4_ENST00000541794.1_Missense_Mutation_p.L651M|TRPV4_ENST00000536838.1_Missense_Mutation_p.L664M|TRPV4_ENST00000346520.2_Missense_Mutation_p.L638M|TRPV4_ENST00000261740.2_Missense_Mutation_p.L698M|TRPV4_ENST00000392719.2_Missense_Mutation_p.L651M|TRPV4_ENST00000544971.1_Missense_Mutation_p.L591M|TRPV4_ENST00000537083.1_Missense_Mutation_p.L638M	p.L698M	NM_001177431.1	NP_001170902.1	Q9HBA0	TRPV4_HUMAN			12	2186	-			698					B7ZKQ6|Q17R79|Q2Y122|Q2Y123|Q2Y124|Q86YZ6|Q8NDY7|Q8NG64|Q96Q92|Q96RS7|Q9HBC0	Missense_Mutation	SNP	ENST00000418703.2	37	c.2092C>A	CCDS9134.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.100189	0.76983	.	.	ENSG00000111199	ENST00000418703;ENST00000261740;ENST00000392719;ENST00000346520;ENST00000544971;ENST00000537083;ENST00000541794;ENST00000536838	D;D;D;D;D;D;D;D	0.98649	-5.05;-5.05;-5.05;-5.05;-5.05;-5.05;-5.05;-5.05	5.71	4.81	0.61882	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99184	0.9717	M	0.89534	3.04	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.999;1.0;0.999;0.998;0.999	D	0.98805	1.0741	10	0.62326	D	0.03	-17.0325	13.7593	0.62956	0.0757:0.0:0.9243:0.0	.	638;698;591;651;664	Q9HBA0-2;Q9HBA0;Q9HBA0-6;Q9HBA0-4;Q9HBA0-5	.;TRPV4_HUMAN;.;.;.	M	698;698;651;638;591;638;651;664	ENSP00000406191:L698M;ENSP00000261740:L698M;ENSP00000376480:L651M;ENSP00000319003:L638M;ENSP00000443611:L591M;ENSP00000442738:L638M;ENSP00000442167:L651M;ENSP00000444336:L664M	ENSP00000261740:L698M	L	-	1	2	TRPV4	108710704	1.000000	0.71417	0.987000	0.45799	0.925000	0.55904	7.640000	0.83355	2.694000	0.91930	0.655000	0.94253	CTG		0.567	TRPV4-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403270.1	NM_021625		18	184	1	0	5.35267e-07	0.557998	5.79872e-07	18	184					T	110226321	G	T	110226321	3	4	35	1	0	0	0	0	1	0	0	0	16595	991	35	5	539	5	TRPV4	12	110226321	Missense_Mutation	SNP	G	TCGA-CH-5769-01A-11D-1576-08	53408677	110226321	23625574	121	1858											
SIRT4	23409	broad.mit.edu	37	chr12	120741830	120741830	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acaccaaggcggggagtcggCgcctgacagagctccacgga	10	3	15	13	4	0	2	0	1	0	1	2	4	1	4	3	5	1	1	3	5	1	0			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr12:120741830C>T	ENST00000202967.4	+	2	525	c.466C>T	c.(466-468)Cgc>Tgc	p.R156C	SIRT4_ENST00000537892.1_3'UTR	NM_012240.2	NP_036372.1			sirtuin 4									p.R156C(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)	9	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GGGGAGTCGGCGCCTGACAGA	0.567																																						ENST00000202967.4																			1	Substitution - Missense(1)	p.R156C(1)	haematopoietic_and_lymphoid_tissue(1)	haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)	9						c.(466-468)Cgc>Tgc		sirtuin 4							54	48	50					12																	120741830		2203	4300	6503	SO:0001583	missense	23409				chromatin silencing|negative regulation of insulin secretion|protein ADP-ribosylation|protein deacetylation	mitochondrial matrix	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides|NAD+ ADP-ribosyltransferase activity|NAD+ binding|protein binding|zinc ion binding	g.chr12:120741830C>T	AF083109	CCDS9194.1	12q24.31	2010-06-25	2010-06-25		ENSG00000089163	ENSG00000089163			14932	protein-coding gene	gene with protein product		604482	"sirtuin (silent mating type information regulation 2, S. cerevisiae, homolog) 4", "sirtuin (silent mating type information regulation 2 homolog) 4 (S. cerevisiae)"			10381378	Standard	NM_012240		Approved	SIR2L4	uc001tyc.3	Q9Y6E7	OTTHUMG00000169028	ENST00000202967.4:c.466C>T	12.37:g.120741830C>T	ENSP00000202967:p.Arg156Cys					SIRT4_ENST00000537892.1_3'UTR	p.R156C	NM_012240.2	NP_036372.1	Q9Y6E7	SIRT4_HUMAN			2	525	+	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		156			Deacetylase sirtuin-type.			Missense_Mutation	SNP	ENST00000202967.4	37	c.466C>T	CCDS9194.1	.	.	.	.	.	.	.	.	.	.	C	16.31	3.086018	0.55861	.	.	ENSG00000089163	ENST00000536460;ENST00000202967	T;T	0.19669	2.13;2.13	5.42	4.53	0.55603	.	0.094927	0.64402	D	0.000002	T	0.29652	0.0740	M	0.85777	2.775	0.58432	D	0.999999	P	0.35793	0.521	B	0.28232	0.087	T	0.30563	-0.9974	10	0.52906	T	0.07	-29.5876	16.612	0.84885	0.0:0.8697:0.1302:0.0	.	156	Q9Y6E7	SIRT4_HUMAN	C	97;156	ENSP00000444838:R97C;ENSP00000202967:R156C	ENSP00000202967:R156C	R	+	1	0	SIRT4	119226213	1.000000	0.71417	1.000000	0.80357	0.647000	0.38526	2.787000	0.47798	1.422000	0.47177	-0.172000	0.13284	CGC		0.567	SIRT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402003.1	NM_012240		6	94	0	0	0	0.27861	0	6	94					T	120741830	C	T	120741830	3	4	35	1	0	0	0	0	1	0	0	0	14340	768	27	1	468	1	SIRT4	12	120741830	Missense_Mutation	SNP	C	TCGA-CH-5769-01A-11D-1576-08	10515509	120741830	13110065	122	1859											
CCDC92	80212	broad.mit.edu	37	chr12	124422263	124422263	+	Frame_Shift_Del	DEL	T	T	-																															ccagcactgtgatcatcgcgTttttctgctccagttctttc																										TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr12:124422263delT	ENST00000238156.3	-	5	692	c.338delA	c.(337-339)aacfs	p.N113fs	CCDC92_ENST00000545891.1_Frame_Shift_Del_p.N96fs|DNAH10OS_ENST00000514254.2_5'Flank|RP11-380L11.3_ENST00000602292.1_RNA|CCDC92_ENST00000544798.1_Intron|CCDC92_ENST00000545135.1_Frame_Shift_Del_p.N96fs	NM_025140.1	NP_079416.1	Q53HC0	CCD92_HUMAN	coiled-coil domain containing 92	113						centriole (GO:0005814)				large_intestine(5)|lung(2)	7	all_neural(191;0.101)|Medulloblastoma(191;0.163)			Epithelial(86;0.0002)|OV - Ovarian serous cystadenocarcinoma(86;0.000222)|all cancers(50;0.00129)|BRCA - Breast invasive adenocarcinoma(302;0.242)		GATCATCGCGTTTTTCTGCTC	0.463																																						ENST00000545135.1																			0				large_intestine(5)|lung(2)	7						c.(286-288)acfs		coiled-coil domain containing 92							289	265	273					12																	124422263		2203	4300	6503	SO:0001589	frameshift_variant	80212							g.chr12:124422263delT	AK026124	CCDS9256.1	12q24.31	2011-09-02			ENSG00000119242	ENSG00000119242			29563	protein-coding gene	gene with protein product	"limkain beta 2"					12477932	Standard	NM_025140		Approved	FLJ22471	uc001ufw.1	Q53HC0	OTTHUMG00000168725	ENST00000238156.3:c.338delA	12.37:g.124422263delT	ENSP00000238156:p.Asn113fs					CCDC92_ENST00000545891.1_Frame_Shift_Del_p.N96fs|CCDC92_ENST00000238156.3_Frame_Shift_Del_p.N113fs|CCDC92_ENST00000544798.1_Intron	p.N96fs			Q53HC0	CCD92_HUMAN		Epithelial(86;0.0002)|OV - Ovarian serous cystadenocarcinoma(86;0.000222)|all cancers(50;0.00129)|BRCA - Breast invasive adenocarcinoma(302;0.242)	3	3583	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		113					B3KNQ0|Q9H697	Frame_Shift_Del	DEL	ENST00000238156.3	37	c.287delA	CCDS9256.1																																																																																				0.463	CCDC92-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000400780.2	NM_025140		33	415						33	415	---	---	---	---	-	124422263	T	-	124422263	7	5	35	1	0	1	0	1	0	0	0	0	2871	1725	60	0	661	0	CCDC92	12	124422263	Frame_Shift_Del	DEL	T	TCGA-CH-5769-01A-11D-1576-08	3680433	124422263	9429632	123	1860											
DHX37	57647	broad.mit.edu	37	chr12	125465071	125465071	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcggttcacggggatgaagaCggcgggcttagccagggccc	7	5	18	11	4	1	2	1	1	0	1	1	3	1	3	2	6	1	2	2	6	2	2	rs373907134		TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr12:125465071C>T	ENST00000308736.2	-	4	801	c.703G>A	c.(703-705)Gtc>Atc	p.V235I	DHX37_ENST00000544745.1_Missense_Mutation_p.V22I	NM_032656.3	NP_116045.2	Q8IY37	DHX37_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 37	235							ATP binding (GO:0005524)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)			breast(5)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|liver(1)|lung(27)|ovary(1)|prostate(2)|skin(3)	65	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;8.05e-05)|Epithelial(86;0.000486)|all cancers(50;0.00653)		GGGATGAAGACGGCGGGCTTA	0.647													C|||	1	0.000199681	0	0	5008	,	,		17533	0		0	False		,,,				2504	0.001					ENST00000308736.2																			0				breast(5)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|liver(1)|lung(27)|ovary(1)|prostate(2)|skin(3)	65						c.(703-705)Gtc>Atc		DEAH (Asp-Glu-Ala-His) box polypeptide 37		C	ILE/VAL	0,4406		0,0,2203	47	50	49		703	1.4	0.3	12		49	1,8599	1.2+/-3.3	0,1,4299	no	missense	DHX37	NM_032656.3	29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	235/1158	125465071	1,13005	2203	4300	6503	SO:0001583	missense	57647						ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding	g.chr12:125465071C>T	AB040950	CCDS9261.1	12q24.31	2004-03-25	2003-06-13	2003-06-20		ENSG00000150990		"DEAH-boxes"	17210	protein-coding gene	gene with protein product			"DEAD/DEAH box helicase DDX37"	DDX37		10819331	Standard	NM_032656		Approved	KIAA1517, MGC4322, MGC2695	uc001ugy.3	Q8IY37		ENST00000308736.2:c.703G>A	12.37:g.125465071C>T	ENSP00000311135:p.Val235Ile					DHX37_ENST00000544745.1_Missense_Mutation_p.V22I	p.V235I	NM_032656.3	NP_116045.2	Q8IY37	DHX37_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;8.05e-05)|Epithelial(86;0.000486)|all cancers(50;0.00653)	4	801	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		235					Q9BUI7|Q9P211	Missense_Mutation	SNP	ENST00000308736.2	37	c.703G>A	CCDS9261.1	.	.	.	.	.	.	.	.	.	.	C	6.653	0.488899	0.12641	0.0	1.16E-4	ENSG00000150990	ENST00000308736;ENST00000544745	T;T	0.03272	4.08;3.99	5.37	1.36	0.22044	.	0.300139	0.36444	N	0.002598	T	0.02533	0.0077	N	0.20986	0.625	0.40999	D	0.984918	B	0.24768	0.111	B	0.17722	0.019	T	0.53322	-0.8455	10	0.30854	T	0.27	-18.5216	8.0916	0.30803	0.0:0.6499:0.0:0.3501	.	235	Q8IY37	DHX37_HUMAN	I	235;22	ENSP00000311135:V235I;ENSP00000439009:V22I	ENSP00000311135:V235I	V	-	1	0	DHX37	124031024	0.005000	0.15991	0.337000	0.25536	0.004000	0.04260	-0.012000	0.12699	0.585000	0.29608	0.655000	0.94253	GTC		0.647	DHX37-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_032656		4	81	0	0	0	0.184627	0	4	81					T	125465071	C	T	125465071	3	4	35	1	0	0	0	0	1	0	0	0	4510	536	19	1	2866	1	DHX37	12	125465071	Missense_Mutation	SNP	C	TCGA-CH-5769-01A-11D-1576-08	1042808	125465071	8386824	124	1861											
EP400	57634	broad.mit.edu	37	chr12	132472338	132472338	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaagctgcaggaggccccacGccccaagtcccactgggact	10	4	11	16	1	0	0	0	0	0	0	1	2	1	2	5	3	2	2	5	3	2	0			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr12:132472338G>A	ENST00000333577.4	+	8	2529	c.2420G>A	c.(2419-2421)cGc>cAc	p.R807H	EP400_ENST00000389561.2_Missense_Mutation_p.R771H|EP400_ENST00000332482.4_Missense_Mutation_p.R734H|EP400_ENST00000330386.6_Missense_Mutation_p.R771H|EP400_ENST00000389562.2_Missense_Mutation_p.R770H			Q96L91	EP400_HUMAN	E1A binding protein p400	807	HSA. {ECO:0000255|PROSITE- ProRule:PRU00549}.				chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		GAGGCCCCACGCCCCAAGTCC	0.597																																						ENST00000333577.4																			0				NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161						c.(2419-2421)cGc>cAc		E1A binding protein p400							60	54	56					12																	132472338		2203	4300	6503	SO:0001583	missense	57634				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	g.chr12:132472338G>A	U80743	CCDS31929.1, CCDS31929.2	12q24.33	2008-02-01	2002-02-05	2002-02-08		ENSG00000183495			11958	protein-coding gene	gene with protein product		606265	"trinucleotide repeat containing 12"	TNRC12		9225980, 11509179	Standard	NM_015409		Approved	CAGH32, KIAA1498, P400, KIAA1818, DKFZP434I225	uc001ujn.3	Q96L91		ENST00000333577.4:c.2420G>A	12.37:g.132472338G>A	ENSP00000333602:p.Arg807His					EP400_ENST00000389562.2_Missense_Mutation_p.R770H|EP400_ENST00000330386.6_Missense_Mutation_p.R771H|EP400_ENST00000332482.4_Missense_Mutation_p.R734H|EP400_ENST00000389561.2_Missense_Mutation_p.R771H	p.R807H			Q96L91	EP400_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)	8	2529	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)	807			HSA.		O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	Missense_Mutation	SNP	ENST00000333577.4	37	c.2420G>A		.	.	.	.	.	.	.	.	.	.	G	16.68	3.190162	0.58017	.	.	ENSG00000183495	ENST00000537902;ENST00000333577;ENST00000389561;ENST00000389562;ENST00000332482;ENST00000330386;ENST00000423130;ENST00000541296;ENST00000542457	D;D;D;D;D	0.93133	-3.15;-3.14;-3.14;-3.17;-3.12	5.3	5.3	0.74995	.	0.000000	0.85682	D	0.000000	D	0.97099	0.9052	M	0.84585	2.705	0.49687	D	0.999816	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.999;0.999;0.999;0.999;0.999	D	0.97350	0.9963	10	0.66056	D	0.02	.	19.3223	0.94246	0.0:0.0:1.0:0.0	.	771;771;770;807;734	Q96L91-2;Q96L91-4;Q96L91-5;F8WCN8;Q96L91-3	.;.;.;.;.	H	734;807;771;770;734;771;807;771;771	ENSP00000333602:R807H;ENSP00000374212:R771H;ENSP00000374213:R770H;ENSP00000331737:R734H;ENSP00000330620:R771H	ENSP00000330620:R771H	R	+	2	0	EP400	131038291	1.000000	0.71417	0.136000	0.22124	0.879000	0.50718	9.813000	0.99286	2.637000	0.89404	0.563000	0.77884	CGC		0.597	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015409		4	96	0	0	0	0.150653	0	4	96					A	132472338	G	A	132472338	3	1	35	1	0	0	0	0	1	0	0	0	5149	1087	38	1	2331	1	EP400	12	132472338	Missense_Mutation	SNP	G	TCGA-CH-5769-01A-11D-1576-08	7007267	132472338	1379557	125	1862											
AKAP11	11215	broad.mit.edu	37	chr13	42876768	42876768	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gttgttatgctgatggtgacGaagattataaagtagaagag	14	12	13	2	1	0	5	0	2	0	3	0	6	0	5	0	1	1	4	0	1	7	5	rs576236263		TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr13:42876768G>A	ENST00000025301.2	+	8	4061	c.3886G>A	c.(3886-3888)Gaa>Aaa	p.E1296K		NM_016248.3	NP_057332.1	Q9UKA4	AKA11_HUMAN	A kinase (PRKA) anchor protein 11	1296					intracellular signal transduction (GO:0035556)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	protein kinase A binding (GO:0051018)|protein phosphatase 1 binding (GO:0008157)			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(2)	56		Lung NSC(96;1.86e-05)|Prostate(109;0.0165)|Lung SC(185;0.0262)|Breast(139;0.0707)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;0.000365)|GBM - Glioblastoma multiforme(144;0.00116)|BRCA - Breast invasive adenocarcinoma(63;0.19)		TGATGGTGACGAAGATTATAA	0.388													C|||	1	0.000199681	0	0	5008	,	,		22307	0.001		0	False		,,,				2504	0					ENST00000025301.2																			0				breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(2)	56						c.(3886-3888)Gaa>Aaa		A kinase (PRKA) anchor protein 11							70	71	71					13																	42876768		2203	4300	6503	SO:0001583	missense	11215				intracellular protein kinase cascade	microtubule organizing center	protein kinase A binding|protein phosphatase 1 binding	g.chr13:42876768G>A	AB014529	CCDS9383.1	13q	2012-04-17			ENSG00000023516	ENSG00000023516		"A-kinase anchor proteins", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	369	protein-coding gene	gene with protein product	"AKAP 220", "A-kinase anchoring protein, 220kDa", "protein kinase A anchoring protein 11", "protein phosphatase 1, regulatory subunit 44"	604696				9734811, 8621616	Standard	NM_016248		Approved	KIAA0629, AKAP220, PRKA11, FLJ11304, DKFZp781I12161, PPP1R44	uc001uys.2	Q9UKA4	OTTHUMG00000016805	ENST00000025301.2:c.3886G>A	13.37:g.42876768G>A	ENSP00000025301:p.Glu1296Lys						p.E1296K	NM_016248.3	NP_057332.1	Q9UKA4	AKA11_HUMAN		OV - Ovarian serous cystadenocarcinoma(117;0.000365)|GBM - Glioblastoma multiforme(144;0.00116)|BRCA - Breast invasive adenocarcinoma(63;0.19)	8	4061	+		Lung NSC(96;1.86e-05)|Prostate(109;0.0165)|Lung SC(185;0.0262)|Breast(139;0.0707)|Hepatocellular(98;0.114)	1296					O75124|Q9NUK7	Missense_Mutation	SNP	ENST00000025301.2	37	c.3886G>A	CCDS9383.1	.	.	.	.	.	.	.	.	.	.	C	5.042	0.193416	0.09599	.	.	ENSG00000023516	ENST00000025301	T	0.39229	1.09	5.75	2.7	0.31948	.	1.349980	0.05163	N	0.498162	T	0.19685	0.0473	N	0.03608	-0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.24977	-1.0145	10	0.14656	T	0.56	.	5.0779	0.14642	0.383:0.4465:0.0938:0.0767	.	1296	Q9UKA4	AKA11_HUMAN	K	1296	ENSP00000025301:E1296K	ENSP00000025301:E1296K	E	+	1	0	AKAP11	41774768	0.000000	0.05858	0.008000	0.14137	0.031000	0.12232	-0.023000	0.12456	0.339000	0.23719	-0.729000	0.03580	GAA		0.388	AKAP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044700.2	NM_016248		4	97	0	0	0	0.184627	0	4	97					A	42876768	G	A	42876768	3	1	35	1	0	0	0	0	1	0	0	0	447	1059	37	2	3908	2	AKAP11	13	42876768	Missense_Mutation	SNP	G	TCGA-CH-5769-01A-11D-1576-08		42876768	72293110	126	1863											
LIG4	3981	broad.mit.edu	37	chr13	108861451	108861451	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cattctaaaagccatgcaggCttgacaacatcatgtttatt	13	13	6	9	0	2	1	1	1	1	0	2	1	2	1	1	1	3	3	1	1	4	6			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr13:108861451C>T	ENST00000356922.4	-	2	2438	c.2166G>A	c.(2164-2166)aaG>aaA	p.K722K	LIG4_ENST00000442234.1_Silent_p.K722K|LIG4_ENST00000405925.1_Silent_p.K722K	NM_002312.3|NM_206937.1	NP_002303.2|NP_996820.1	P49917	DNLI4_HUMAN	ligase IV, DNA, ATP-dependent	722	BRCT 1. {ECO:0000255|PROSITE- ProRule:PRU00033}.				cell cycle (GO:0007049)|cell division (GO:0051301)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|chromosome organization (GO:0051276)|DNA biosynthetic process (GO:0071897)|DNA ligation (GO:0006266)|DNA ligation involved in DNA recombination (GO:0051102)|DNA ligation involved in DNA repair (GO:0051103)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|establishment of integrated proviral latency (GO:0075713)|in utero embryonic development (GO:0001701)|isotype switching (GO:0045190)|lagging strand elongation (GO:0006273)|negative regulation of neuron apoptotic process (GO:0043524)|neuron apoptotic process (GO:0051402)|nucleotide-excision repair, DNA gap filling (GO:0006297)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of neurogenesis (GO:0050769)|pro-B cell differentiation (GO:0002328)|response to gamma radiation (GO:0010332)|response to X-ray (GO:0010165)|single strand break repair (GO:0000012)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)|T cell receptor V(D)J recombination (GO:0033153)|V(D)J recombination (GO:0033151)|viral process (GO:0016032)	condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|DNA ligase IV complex (GO:0032807)|DNA-dependent protein kinase-DNA ligase 4 complex (GO:0005958)|focal adhesion (GO:0005925)|nonhomologous end joining complex (GO:0070419)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA ligase (ATP) activity (GO:0003910)|DNA ligase activity (GO:0003909)|ligase activity (GO:0016874)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)	p.K722K(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42	all_lung(23;0.000238)|all_neural(89;0.00256)|Lung NSC(43;0.0056)|Medulloblastoma(90;0.00596)|Lung SC(71;0.104)					GCCATGCAGGCTTGACAACAT	0.398								Non-homologous end-joining																														ENST00000356922.4																			1	Substitution - coding silent(1)	p.K722K(1)	prostate(1)	cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						c.(2164-2166)aaG>aaA	Non-homologous end-joining	ligase IV, DNA, ATP-dependent							74	70	72					13																	108861451		2203	4300	6503	SO:0001819	synonymous_variant	3981				cell cycle|cell division|cell proliferation|central nervous system development|chromosome organization|DNA ligation involved in DNA recombination|DNA ligation involved in DNA repair|DNA replication|double-strand break repair via nonhomologous end joining|in utero embryonic development|initiation of viral infection|isotype switching|negative regulation of neuron apoptosis|neuron apoptosis|nucleotide-excision repair, DNA gap filling|positive regulation of fibroblast proliferation|positive regulation of neurogenesis|pro-B cell differentiation|provirus integration|response to gamma radiation|response to X-ray|single strand break repair|somatic stem cell maintenance|T cell differentiation in thymus|T cell receptor V(D)J recombination	condensed chromosome|cytoplasm|DNA ligase IV complex|DNA-dependent protein kinase-DNA ligase 4 complex|focal adhesion|nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding|protein C-terminus binding	g.chr13:108861451C>T	X83441	CCDS9508.1	13q33-q34	2014-09-17			ENSG00000174405	ENSG00000174405	6.5.1.1		6601	protein-coding gene	gene with protein product	"polydeoxyribonucleotide synthase [ATP] 4", "polynucleotide ligase", "sealase", "DNA repair enzyme", "DNA joinase"	601837				7760816	Standard	NM_001098268		Approved		uc001vqo.3	P49917	OTTHUMG00000017328	ENST00000356922.4:c.2166G>A	13.37:g.108861451C>T						LIG4_ENST00000442234.1_Silent_p.K722K|LIG4_ENST00000405925.1_Silent_p.K722K	p.K722K	NM_002312.3|NM_206937.1	NP_002303.2|NP_996820.1	P49917	DNLI4_HUMAN			2	2438	-	all_lung(23;0.000238)|all_neural(89;0.00256)|Lung NSC(43;0.0056)|Medulloblastoma(90;0.00596)|Lung SC(71;0.104)		722			BRCT 1.		Q8IY66|Q8TEU5	Silent	SNP	ENST00000356922.4	37	c.2166G>A	CCDS9508.1																																																																																				0.398	LIG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045738.4	NM_002312		11	124	0	0	0	0.361761	0	11	124					T	108861451	C	T	108861451	2	4	35	1	0	0	0	0	0	0	0	1	8783	796	28	3		3	LIG4	13	108861451	Silent	SNP	C	TCGA-CH-5769-01A-11D-1576-08	65984683	108861451	6308427	127	1864											
COL4A2	1284	broad.mit.edu	37	chr13	111138135	111138135	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttgccaggattccctggggtGgctggcccccctggaattac	5	10	13	13	0	0	0	0	0	0	0	1	2	1	2	5	6	2	1	5	6	2	3			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr13:111138135G>A	ENST00000360467.5	+	34	3465	c.3159G>A	c.(3157-3159)gtG>gtA	p.V1053V		NM_001846.2	NP_001837.2	P08572	CO4A2_HUMAN	collagen, type IV, alpha 2	1053	Triple-helical region.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|cellular response to transforming growth factor beta stimulus (GO:0071560)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of angiogenesis (GO:0016525)|transcription, DNA-templated (GO:0006351)	collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)	extracellular matrix structural constituent (GO:0005201)			NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	80	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)			TCCCTGGGGTGGCTGGCCCCC	0.617																																						ENST00000360467.5																			0				NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						c.(3157-3159)gtG>gtA		collagen, type IV, alpha 2							40	47	44					13																	111138135		1856	4089	5945	SO:0001819	synonymous_variant	1284				angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis	collagen type IV	extracellular matrix structural constituent|protein binding	g.chr13:111138135G>A	AK025912	CCDS41907.1	13q34	2013-09-05			ENSG00000134871	ENSG00000134871		"Collagens"	2203	protein-coding gene	gene with protein product	"canstatin", "collagen type IV alpha 2"	120090				2439508, 3025878	Standard	NM_001846		Approved	FLJ22259, DKFZp686I14213	uc001vqx.3	P08572	OTTHUMG00000017344	ENST00000360467.5:c.3159G>A	13.37:g.111138135G>A							p.V1053V	NM_001846.2	NP_001837.2	P08572	CO4A2_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)		34	3465	+	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	1053			Triple-helical region.		Q14052|Q548C3|Q5VZA9|Q66K23	Silent	SNP	ENST00000360467.5	37	c.3159G>A	CCDS41907.1																																																																																				0.617	COL4A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045761.2	NM_001846		6	111	0	0	0	0.217242	0	6	111					A	111138135	G	A	111138135	2	1	35	1	0	0	0	0	0	0	0	1	3690	1335	47	3		3	COL4A2	13	111138135	Silent	SNP	G	TCGA-CH-5769-01A-11D-1576-08	2276684	111138135	4031743	128	1865											
COL4A2	1284	broad.mit.edu	37	chr13	111156530	111156530	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagggaaagctgggccccaaGgaagaggtggtgtgtctgct	9	7	17	8	0	1	1	0	0	1	1	1	3	1	3	2	5	2	2	2	5	3	0			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr13:111156530G>T	ENST00000360467.5	+	45	4627	c.4321G>T	c.(4321-4323)Gga>Tga	p.G1441*	COL4A2-AS1_ENST00000417970.2_RNA	NM_001846.2	NP_001837.2	P08572	CO4A2_HUMAN	collagen, type IV, alpha 2	1441	Triple-helical region.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|cellular response to transforming growth factor beta stimulus (GO:0071560)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of angiogenesis (GO:0016525)|transcription, DNA-templated (GO:0006351)	collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)	extracellular matrix structural constituent (GO:0005201)	p.G1441*(1)		NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	80	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)			TGGGCCCCAAGGAAGAGGTGG	0.622																																						ENST00000360467.5																			1	Substitution - Nonsense(1)	p.G1441*(1)	prostate(1)	NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						c.(4321-4323)Gga>Tga		collagen, type IV, alpha 2							64	72	69					13																	111156530		1940	4135	6075	SO:0001587	stop_gained	1284				angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis	collagen type IV	extracellular matrix structural constituent|protein binding	g.chr13:111156530G>T	AK025912	CCDS41907.1	13q34	2013-09-05			ENSG00000134871	ENSG00000134871		"Collagens"	2203	protein-coding gene	gene with protein product	"canstatin", "collagen type IV alpha 2"	120090				2439508, 3025878	Standard	NM_001846		Approved	FLJ22259, DKFZp686I14213	uc001vqx.3	P08572	OTTHUMG00000017344	ENST00000360467.5:c.4321G>T	13.37:g.111156530G>T	ENSP00000353654:p.Gly1441*					COL4A2-AS1_ENST00000417970.2_RNA	p.G1441*	NM_001846.2	NP_001837.2	P08572	CO4A2_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)		45	4627	+	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	1441			Triple-helical region.		Q14052|Q548C3|Q5VZA9|Q66K23	Nonsense_Mutation	SNP	ENST00000360467.5	37	c.4321G>T	CCDS41907.1	.	.	.	.	.	.	.	.	.	.	G	47	13.497846	0.99745	.	.	ENSG00000134871	ENST00000360467;ENST00000257309	.	.	.	5.2	5.2	0.72013	.	0.000000	0.56097	D	0.000039	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	18.3673	0.90396	0.0:0.0:1.0:0.0	.	.	.	.	X	1441	.	ENSP00000257309:G1441X	G	+	1	0	COL4A2	109954531	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	8.266000	0.89871	2.423000	0.82170	0.561000	0.74099	GGA		0.622	COL4A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045761.2	NM_001846		12	122	1	0	2.27111e-07	0.411799	2.48627e-07	12	122					T	111156530	G	T	111156530	4	4	35	1	0	0	0	0	0	1	0	0	3690	1001	35	5	4495	5	COL4A2	13	111156530	Nonsense_Mutation	SNP	G	TCGA-CH-5769-01A-11D-1576-08	18395	111156530	4013348	129	1866											
PTGER2	5732	broad.mit.edu	37	chr14	52781586	52781586	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcactggcgcccgagagccGcgcgtgcacctacttcgctt	5	7	13	16	6	0	1	0	0	0	1	1	2	0	1	3	2	3	3	3	2	1	3			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr14:52781586G>A	ENST00000245457.5	+	1	474	c.320G>A	c.(319-321)cGc>cAc	p.R107H	PTGER2_ENST00000557436.1_Intron	NM_000956.3	NP_000947.2	P43116	PE2R2_HUMAN	prostaglandin E receptor 2 (subtype EP2), 53kDa	107					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|cellular response to prostaglandin E stimulus (GO:0071380)|G-protein coupled receptor signaling pathway (GO:0007186)|regulation of cell proliferation (GO:0042127)|response to lipopolysaccharide (GO:0032496)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	prostaglandin E receptor activity (GO:0004957)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15	Breast(41;0.0639)|all_epithelial(31;0.0729)				Alprostadil(DB00770)|Dinoprostone(DB00917)|Misoprostol(DB00929)	CCCGAGAGCCGCGCGTGCACC	0.647																																						ENST00000245457.5																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15						c.(319-321)cGc>cAc		prostaglandin E receptor 2 (subtype EP2), 53kDa	Alprostadil(DB00770)|Iloprost(DB01088)						43	39	41					14																	52781586		2191	4277	6468	SO:0001583	missense	5732					integral to plasma membrane	prostaglandin E receptor activity	g.chr14:52781586G>A		CCDS9708.1	14q22	2012-08-08	2002-08-29		ENSG00000125384	ENSG00000125384		"GPCR / Class A : Prostanoid receptors"	9594	protein-coding gene	gene with protein product		176804	"prostaglandin E receptor 2 (subtype EP2), 53kD"			8250933, 7759114	Standard	NM_000956		Approved	EP2	uc001wzr.3	P43116	OTTHUMG00000140300	ENST00000245457.5:c.320G>A	14.37:g.52781586G>A	ENSP00000245457:p.Arg107His					PTGER2_ENST00000557436.1_Intron	p.R107H	NM_000956.3	NP_000947.2	P43116	PE2R2_HUMAN			1	474	+	Breast(41;0.0639)|all_epithelial(31;0.0729)		107					D3DSC0|Q52LG8	Missense_Mutation	SNP	ENST00000245457.5	37	c.320G>A	CCDS9708.1	.	.	.	.	.	.	.	.	.	.	G	10.86	1.470132	0.26423	.	.	ENSG00000125384	ENST00000245457	T	0.71579	-0.58	5.09	3.24	0.37175	GPCR, rhodopsin-like superfamily (1);	0.662303	0.15967	N	0.235991	T	0.53334	0.1790	L	0.35723	1.085	0.09310	N	1	B	0.15141	0.012	B	0.09377	0.004	T	0.33033	-0.9884	10	0.13470	T	0.59	-7.4094	5.3613	0.16089	0.1739:0.0:0.6661:0.1599	.	107	P43116	PE2R2_HUMAN	H	107	ENSP00000245457:R107H	ENSP00000245457:R107H	R	+	2	0	PTGER2	51851336	0.000000	0.05858	0.674000	0.29902	0.967000	0.64934	0.187000	0.16998	0.631000	0.30412	0.563000	0.77884	CGC		0.647	PTGER2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276890.1			4	114	0	0	0	0.150653	0	4	114					A	52781586	G	A	52781586	3	1	35	1	0	0	0	0	1	0	0	0	12743	1087	38	1	322	1	PTGER2	14	52781586	Missense_Mutation	SNP	G	TCGA-CH-5769-01A-11D-1576-08		52781586	54567954	130	1867											
KCNH5	27133	broad.mit.edu	37	chr14	63175050	63175050	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	attccgcagctccttctgctGcttgaacttctggaagagct	7	13	9	12	1	2	2	0	1	2	1	4	3	4	3	2	1	5	5	2	1	2	4			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr14:63175050G>A	ENST00000322893.7	-	11	2411	c.2143C>T	c.(2143-2145)Cag>Tag	p.Q715*	KCNH5_ENST00000420622.2_3'UTR	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 5	715	Calmodulin-binding. {ECO:0000255}.				potassium ion transmembrane transport (GO:0071805)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)	p.Q715*(1)		NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		TCCTTCTGCTGCTTGAACTTC	0.562																																						ENST00000322893.7																			1	Substitution - Nonsense(1)	p.Q715*(1)	prostate(1)	NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99						c.(2143-2145)Cag>Tag		potassium voltage-gated channel, subfamily H (eag-related), member 5							119	119	119					14																	63175050		2203	4300	6503	SO:0001587	stop_gained	27133				regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity	g.chr14:63175050G>A	U69185	CCDS9756.1, CCDS45122.1	14q23.1	2012-07-05			ENSG00000140015	ENSG00000140015		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6254	protein-coding gene	gene with protein product		605716				9738473, 16382104	Standard	NM_139318		Approved	Kv10.2, H-EAG2, eag2	uc001xfx.3	Q8NCM2	OTTHUMG00000029041	ENST00000322893.7:c.2143C>T	14.37:g.63175050G>A	ENSP00000321427:p.Gln715*					KCNH5_ENST00000420622.2_3'UTR	p.Q715*	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)	11	2411	-			715			Calmodulin-binding (Potential).		C9JP98	Nonsense_Mutation	SNP	ENST00000322893.7	37	c.2143C>T	CCDS9756.1	.	.	.	.	.	.	.	.	.	.	G	39	7.728019	0.98456	.	.	ENSG00000140015	ENST00000322893	.	.	.	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.20519	T	0.43	.	19.4558	0.94889	0.0:0.0:1.0:0.0	.	.	.	.	X	715	.	ENSP00000321427:Q715X	Q	-	1	0	KCNH5	62244803	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.869000	0.99810	2.611000	0.88343	0.655000	0.94253	CAG		0.562	KCNH5-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411747.1	NM_139318		14	208	0	0	0	0.457914	0	14	208					A	63175050	G	A	63175050	4	1	35	1	0	0	0	0	0	1	0	0	8035	1328	46	3	827	3	KCNH5	14	63175050	Nonsense_Mutation	SNP	G	TCGA-CH-5769-01A-11D-1576-08	10393464	63175050	44174490	131	1868											
GPX2	2877	broad.mit.edu	37	chr14	65409312	65409312	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gttgagctgggtgaagtcccGggtggttgtgcctcagagcg	5	10	18	8	2	1	3	1	2	0	1	2	3	2	3	2	3	3	3	2	3	1	2			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr14:65409312G>A	ENST00000389614.5	-	1	219	c.133C>T	c.(133-135)Cgg>Tgg	p.R45W	FNTB_ENST00000542227.1_Intron|FNTB_ENST00000447296.2_Intron|CHURC1-FNTB_ENST00000549987.1_Intron	NM_002083.3	NP_002074.2	P18283	GPX2_HUMAN	glutathione peroxidase 2 (gastrointestinal)	45					interaction with symbiont (GO:0051702)|negative regulation of inflammatory response to antigenic stimulus (GO:0002862)|response to oxidative stress (GO:0006979)|response to symbiotic bacterium (GO:0009609)|temperature homeostasis (GO:0001659)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	electron carrier activity (GO:0009055)|glutathione peroxidase activity (GO:0004602)			large_intestine(2)|ovary(1)|skin(1)	4				all cancers(60;0.00117)|OV - Ovarian serous cystadenocarcinoma(108;0.00557)|BRCA - Breast invasive adenocarcinoma(234;0.00971)	Glutathione(DB00143)	GTGAAGTCCCGGGTGGTTGTG	0.587																																						ENST00000389614.5																			0				large_intestine(2)|ovary(1)|skin(1)	4						c.(133-135)Cgg>Tgg		glutathione peroxidase 2 (gastrointestinal)	Glutathione(DB00143)						74	81	79					14																	65409312		1996	4147	6143	SO:0001583	missense	2877				response to oxidative stress	cytoplasm	electron carrier activity|glutathione peroxidase activity	g.chr14:65409312G>A		CCDS41964.1	14q23.3	2012-05-22			ENSG00000176153	ENSG00000176153	1.11.1.9		4554	protein-coding gene	gene with protein product		138319				8428933, 8287691	Standard	NM_002083		Approved	GSHPX-GI	uc021ruq.2	P18283	OTTHUMG00000171677	ENST00000389614.5:c.133C>T	14.37:g.65409312G>A	ENSP00000374265:p.Arg45Trp					CHURC1-FNTB_ENST00000542227.1_Intron|CHURC1-FNTB_ENST00000447296.2_Intron	p.R45W	NM_002083.3	NP_002074.2	P18283	GPX2_HUMAN		all cancers(60;0.00117)|OV - Ovarian serous cystadenocarcinoma(108;0.00557)|BRCA - Breast invasive adenocarcinoma(234;0.00971)	1	219	-			45					Q6PJ52|Q8WWI7|Q9NRP9	Missense_Mutation	SNP	ENST00000389614.5	37	c.133C>T	CCDS41964.1	.	.	.	.	.	.	.	.	.	.	G	17.11	3.304881	0.60305	.	.	ENSG00000176153	ENST00000389614	T	0.23950	1.88	5.56	4.66	0.58398	Thioredoxin-like fold (2);	0.000000	0.39407	U	0.001375	T	0.40909	0.1136	M	0.86651	2.83	0.80722	D	1	P	0.49253	0.921	P	0.48189	0.57	T	0.46938	-0.9155	10	0.87932	D	0	-12.0438	8.9786	0.35950	0.0:0.141:0.5852:0.2738	.	45	P18283	GPX2_HUMAN	W	45	ENSP00000374265:R45W	ENSP00000374265:R45W	R	-	1	2	GPX2	64479065	1.000000	0.71417	1.000000	0.80357	0.647000	0.38526	2.162000	0.42367	1.329000	0.45376	-0.302000	0.09304	CGG		0.587	GPX2-001	KNOWN	basic|appris_principal|CCDS|seleno	protein_coding	protein_coding	OTTHUMT00000414708.1			4	142	0	0	0	0.184627	0	4	142					A	65409312	G	A	65409312	3	1	35	1	0	0	0	0	1	0	0	0	6740	1115	39	2	447	2	GPX2	14	65409312	Missense_Mutation	SNP	G	TCGA-CH-5769-01A-11D-1576-08	2234262	65409312	41940228	132	1869											
KCNK13	56659	broad.mit.edu	37	chr14	90650708	90650708	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tggaagccctccgtgtactaCgtcatgctgatcctatgcac	8	11	9	13	2	1	1	1	1	0	0	3	2	3	2	3	1	5	3	3	1	4	3	rs114616148	byFrequency	TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr14:90650708C>T	ENST00000282146.4	+	2	1029	c.588C>T	c.(586-588)taC>taT	p.Y196Y		NM_022054.2	NP_071337.2	Q9HB14	KCNKD_HUMAN	potassium channel, subfamily K, member 13	196					synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	potassium channel activity (GO:0005267)|voltage-gated ion channel activity (GO:0005244)	p.Y196Y(1)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(12)|prostate(1)|skin(4)	25		all_cancers(154;0.186)				CCGTGTACTACGTCATGCTGA	0.612													T|||	2	0.000399361	0	0	5008	,	,		19589	0.002		0	False		,,,				2504	0					ENST00000282146.4																			1	Substitution - coding silent(1)	p.Y196Y(1)	prostate(1)	haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(12)|prostate(1)|skin(4)	25						c.(586-588)taC>taT		potassium channel, subfamily K, member 13							149	125	133					14																	90650708		2203	4300	6503	SO:0001819	synonymous_variant	56659					integral to membrane	potassium channel activity|voltage-gated ion channel activity	g.chr14:90650708C>T	AF287303	CCDS9889.1	14q32.11	2012-03-07				ENSG00000152315		"Potassium channels", "Voltage-gated ion channels / Potassium channels, Two-P"	6275	protein-coding gene	gene with protein product		607367				11060316, 16382106	Standard	NM_022054		Approved	K2p13.1, THIK-1, THIK1	uc001xye.1	Q9HB14		ENST00000282146.4:c.588C>T	14.37:g.90650708C>T							p.Y196Y	NM_022054.2	NP_071337.2	Q9HB14	KCNKD_HUMAN			2	1029	+		all_cancers(154;0.186)	196					B5TJL8|Q96E79	Silent	SNP	ENST00000282146.4	37	c.588C>T	CCDS9889.1																																																																																				0.612	KCNK13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411251.1	NM_022054		20	243	0	0	0	0.592651	0	20	243					T	90650708	C	T	90650708	2	4	35	1	0	0	0	0	0	0	0	1	8061	547	19	1		1	KCNK13	14	90650708	Silent	SNP	C	TCGA-CH-5769-01A-11D-1576-08	25241396	90650708	16698832	133	1870											
C14orf159	80017	broad.mit.edu	37	chr14	91647609	91647609	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaaaggctccacctggttgTctcaccccagagagaattcc	10	8	9	14	0	1	2	1	0	1	2	4	3	3	2	5	2	0	3	5	2	2	2			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr14:91647609T>C	ENST00000523771.1	+	8	1398	c.795T>C	c.(793-795)tgT>tgC	p.C265C	C14orf159_ENST00000520328.1_Silent_p.C253C|C14orf159_ENST00000523816.1_Silent_p.C265C|C14orf159_ENST00000412671.2_Silent_p.C270C|C14orf159_ENST00000518868.1_Silent_p.C270C|C14orf159_ENST00000256324.10_Silent_p.C270C|C14orf159_ENST00000521077.2_Silent_p.C270C|C14orf159_ENST00000428926.2_Silent_p.C265C|C14orf159_ENST00000525393.2_Silent_p.C141C|C14orf159_ENST00000522322.1_Silent_p.C265C			Q7Z3D6	CN159_HUMAN	chromosome 14 open reading frame 159	265						mitochondrion (GO:0005739)		p.C265C(1)		NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	21		all_cancers(154;0.0191)|all_epithelial(191;0.241)		Epithelial(152;0.141)|OV - Ovarian serous cystadenocarcinoma(161;0.207)		CACCTGGTTGTCTCACCCCAG	0.522																																						ENST00000518868.1																			1	Substitution - coding silent(1)	p.C265C(1)	prostate(1)	NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	21						c.(808-810)tgT>tgC		chromosome 14 open reading frame 159							87	76	79					14																	91647609		2203	4300	6503	SO:0001819	synonymous_variant	80017					mitochondrion		g.chr14:91647609T>C	AK097294	CCDS32141.1, CCDS41979.1, CCDS45150.1, CCDS66693.1, CCDS73677.1	14q32.11	2012-09-26			ENSG00000133943	ENSG00000133943			20498	protein-coding gene	gene with protein product							Standard	NM_001102367		Approved	FLJ39975	uc001xze.2	Q7Z3D6	OTTHUMG00000164980	ENST00000523771.1:c.795T>C	14.37:g.91647609T>C						C14orf159_ENST00000256324.10_Silent_p.C270C|C14orf159_ENST00000520328.1_Silent_p.C253C|C14orf159_ENST00000522322.1_Silent_p.C265C|C14orf159_ENST00000412671.2_Silent_p.C270C|C14orf159_ENST00000521077.2_Silent_p.C270C|C14orf159_ENST00000428926.2_Silent_p.C265C|C14orf159_ENST00000523771.1_Silent_p.C265C|C14orf159_ENST00000523816.1_Silent_p.C265C|C14orf159_ENST00000525393.2_Silent_p.C141C	p.C270C			Q7Z3D6	CN159_HUMAN		Epithelial(152;0.141)|OV - Ovarian serous cystadenocarcinoma(161;0.207)	11	1500	+		all_cancers(154;0.0191)|all_epithelial(191;0.241)	265					B3KUI7|Q86SW3|Q86SX8|Q86SX9|Q86T08|Q86TV5|Q96GW5|Q9H7G0|Q9H8Y9|Q9H9W6	Silent	SNP	ENST00000523771.1	37	c.810T>C	CCDS32141.1																																																																																				0.522	C14orf159-014	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381273.1	NM_024952		5	63	0	0	0	0.184627	0	5	63					C	91647609	T	C	91647609	2	2	35	1	0	0	0	0	0	0	0	1	1755	1673	58	4		4	C14orf159	14	91647609	Silent	SNP	T	TCGA-CH-5769-01A-11D-1576-08	996901	91647609	15701931	134	1871											
SERPINA10	51156	broad.mit.edu	37	chr14	94756667	94756667	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgtgcctcatggagatcttTcgcagcaggctgaatccgaa	9	10	11	11	3	2	2	1	1	1	1	5	4	3	2	2	2	2	3	2	2	2	1			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr14:94756667T>C	ENST00000393096.1	-	2	729	c.264A>G	c.(262-264)cgA>cgG	p.R88R	SERPINA10_ENST00000554173.1_Silent_p.R88R|SERPINA10_ENST00000261994.4_Silent_p.R88R|SERPINA10_ENST00000554723.1_Silent_p.R128R	NM_016186.2	NP_057270.1	Q9UK55	ZPI_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 10	88					blood coagulation (GO:0007596)|negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	heparin binding (GO:0008201)|serine-type endopeptidase inhibitor activity (GO:0004867)	p.R88R(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	33		all_cancers(154;0.105)		Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221)		TGGAGATCTTTCGCAGCAGGC	0.567																																						ENST00000554723.1																			1	Substitution - coding silent(1)	p.R88R(1)	prostate(1)	haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	33						c.(382-384)cgA>cgG		serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 10							77	70	73					14																	94756667		2203	4300	6503	SO:0001819	synonymous_variant	51156				regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity	g.chr14:94756667T>C	AF181467	CCDS9923.1	14q32.13	2014-02-18	2005-08-18		ENSG00000140093	ENSG00000140093		"Serine (or cysteine) peptidase inhibitors"	15996	protein-coding gene	gene with protein product		605271	"serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 10"			10460162, 9689066, 24172014	Standard	NM_016186		Approved	PZI, ZPI	uc001yct.3	Q9UK55	OTTHUMG00000171345	ENST00000393096.1:c.264A>G	14.37:g.94756667T>C						SERPINA10_ENST00000554173.1_Silent_p.R88R|SERPINA10_ENST00000261994.4_Silent_p.R88R|SERPINA10_ENST00000393096.1_Silent_p.R88R	p.R128R			Q9UK55	ZPI_HUMAN		Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221)	2	802	-		all_cancers(154;0.105)	88					A5Z2A5|Q6UWX9|Q86U20	Silent	SNP	ENST00000393096.1	37	c.384A>G	CCDS9923.1																																																																																				0.567	SERPINA10-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413061.1	NM_016186		14	60	0	0	0	0.435327	0	14	60					C	94756667	T	C	94756667	2	2	35	1	0	0	0	0	0	0	0	1	14087	1770	62	4		4	SERPINA10	14	94756667	Silent	SNP	T	TCGA-CH-5769-01A-11D-1576-08	3109058	94756667	12592873	135	1872											
SNRPN	6638	broad.mit.edu	37	chr15	25223444	25223444	+	Frame_Shift_Del	DEL	C	C	-																															tgccgcctccgggaatgagaCcccctccaccaggcattaga																										TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr15:25223444delC	ENST00000400100.1	+	12	1554	c.664delC	c.(664-666)cccfs	p.P225fs	SNURF_ENST00000551312.2_Intron|SNRPN_ENST00000444203.2_Frame_Shift_Del_p.P229fs|SNURF_ENST00000338094.6_3'UTR|SNRPN_ENST00000554227.2_Frame_Shift_Del_p.P229fs|SNHG14_ENST00000551631.2_RNA|SNRPN_ENST00000390687.4_Frame_Shift_Del_p.P225fs|SNRPN_ENST00000400098.1_Frame_Shift_Del_p.P225fs|SNRPN_ENST00000346403.6_Frame_Shift_Del_p.P225fs|SNRPN_ENST00000400097.1_Frame_Shift_Del_p.P225fs|SNRPN_ENST00000577565.1_Frame_Shift_Del_p.P225fs	NM_022807.2	NP_073718.1	P63162	RSMN_HUMAN	small nuclear ribonucleoprotein polypeptide N	225	Repeat-rich region.				response to hormone (GO:0009725)|RNA splicing (GO:0008380)	small nuclear ribonucleoprotein complex (GO:0030532)|spliceosomal complex (GO:0005681)|U1 snRNP (GO:0005685)|U2 snRNP (GO:0005686)	RNA binding (GO:0003723)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(14)|ovary(1)|skin(2)	24		all_cancers(20;9.33e-22)|Breast(32;0.000625)		all cancers(64;3.38e-08)|Epithelial(43;3.45e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000207)|GBM - Glioblastoma multiforme(186;0.125)		GGGAATGAGACCCCCTCCACC	0.552									Prader-Willi syndrome																													ENST00000444203.2																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(14)|ovary(1)|skin(2)	24						c.(676-678)ccfs		small nuclear ribonucleoprotein polypeptide N							139	137	138					15																	25223444		1900	4112	6012	SO:0001589	frameshift_variant	6638	Prader-Willi syndrome	Familial Cancer Database	Prader-Labhart-Willi syndrome	RNA splicing	small nuclear ribonucleoprotein complex|spliceosomal complex	identical protein binding|RNA binding	g.chr15:25223444delC	L80005	CCDS10017.1	15q11.2	2013-07-16			ENSG00000128739	ENSG00000128739			11164	protein-coding gene	gene with protein product	"tissue-specific splicing protein", "SM protein N", "small nuclear ribonucleoprotein N"	182279	"Prader-Willi syndrome chromosome region"	PWCR		1533223	Standard	NM_022805		Approved	SMN, SM-D, HCERN3, SNRNP-N, SNURF-SNRPN, RT-LI	uc001ywt.1	P63162	OTTHUMG00000129180	ENST00000400100.1:c.664delC	15.37:g.25223444delC	ENSP00000382972:p.Pro225fs					SNRPN_ENST00000577565.1_Frame_Shift_Del_p.P225fs|SNRPN_ENST00000400098.1_Frame_Shift_Del_p.P225fs|SNRPN_ENST00000554227.2_Frame_Shift_Del_p.P229fs|SNRPN_ENST00000400100.1_Frame_Shift_Del_p.P225fs|SNRPN_ENST00000400097.1_Frame_Shift_Del_p.P225fs|SNRPN_ENST00000390687.4_Frame_Shift_Del_p.P225fs|SNURF_ENST00000338094.6_3'UTR|SNRPN_ENST00000346403.6_Frame_Shift_Del_p.P225fs	p.P229fs			P63162	RSMN_HUMAN		all cancers(64;3.38e-08)|Epithelial(43;3.45e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000207)|GBM - Glioblastoma multiforme(186;0.125)	7	1715	+		all_cancers(20;9.33e-22)|Breast(32;0.000625)	225			Repeat-rich region.		B3KVR1|P14648|P17135|Q0D2Q5	Frame_Shift_Del	DEL	ENST00000400100.1	37	c.676delC	CCDS10017.1																																																																																				0.552	SNRPN-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413849.10	NM_003097		14	256						14	256	---	---	---	---	-	25223444	C	-	25223444	7	5	35	1	0	1	0	1	0	0	0	0	14870	507	18	0	686	0	SNRPN	15	25223444	Frame_Shift_Del	DEL	C	TCGA-CH-5769-01A-11D-1576-08		25223444	77307948	136	1873											
DIS3L	115752	broad.mit.edu	37	chr15	66618502	66618502	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgacaaaaagaacattcaCgacctcatccccaagcagcc	16	5	6	14	1	2	2	2	1	0	1	3	4	3	2	4	0	3	1	4	0	4	1			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr15:66618502C>T	ENST00000319212.4	+	12	2051	c.2001C>T	c.(1999-2001)caC>caT	p.H667H	DIS3L_ENST00000319194.5_Silent_p.H584H|RP11-352G18.2_ENST00000565993.1_RNA	NM_001143688.1	NP_001137160.1	Q8TF46	DI3L1_HUMAN	DIS3 like exosome 3'-5' exoribonuclease	667					RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|rRNA catabolic process (GO:0016075)	cytoplasmic exosome (RNase complex) (GO:0000177)	3'-5'-exoribonuclease activity (GO:0000175)|enzyme binding (GO:0019899)|RNA binding (GO:0003723)	p.H667H(1)|p.H584H(1)		breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						AGAACATTCACGACCTCATCC	0.537																																						ENST00000319194.5																			2	Substitution - coding silent(2)	p.H667H(1)|p.H584H(1)	prostate(2)	breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						c.(1750-1752)caC>caT		DIS3 mitotic control homolog (S. cerevisiae)-like							87	80	82					15																	66618502		2201	4299	6500	SO:0001819	synonymous_variant	115752				rRNA catabolic process	cytoplasm|exosome (RNase complex)	exonuclease activity|protein binding|ribonuclease activity|RNA binding	g.chr15:66618502C>T		CCDS10214.1, CCDS45286.1	15q22.31	2014-03-05	2014-03-05		ENSG00000166938	ENSG00000166938			28698	protein-coding gene	gene with protein product		614183	"DIS3 mitotic control homolog (S. cerevisiae)-like"			20531386	Standard	NM_001143688		Approved	MGC4562, FLJ38088, KIAA1955, DIS3L1	uc010ujm.2	Q8TF46	OTTHUMG00000133181	ENST00000319212.4:c.2001C>T	15.37:g.66618502C>T						RP11-352G18.2_ENST00000565993.1_RNA|DIS3L_ENST00000319212.4_Silent_p.H667H	p.H584H	NM_133375.3	NP_588616.1	Q8TF46	DI3L1_HUMAN			12	2013	+			667					Q8N1N8|Q8WTU9|Q96CM7	Silent	SNP	ENST00000319212.4	37	c.1752C>T	CCDS45286.1																																																																																				0.537	DIS3L-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382792.2	NM_133375		10	112	0	0	0	0.361761	0	10	112					T	66618502	C	T	66618502	2	4	35	1	0	0	0	0	0	0	0	1	4536	535	19	1		1	DIS3L	15	66618502	Silent	SNP	C	TCGA-CH-5769-01A-11D-1576-08	41395058	66618502	35912890	137	1874											
ITGA11	22801	broad.mit.edu	37	chr15	68649516	68649516	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	attcaatgccaaatgccgtcCgggtctctgttcctcctctc	6	13	7	15	2	3	0	1	0	2	0	8	0	6	0	5	1	2	1	5	1	2	2	rs189643766		TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr15:68649516C>T	ENST00000315757.7	-	7	808	c.722G>A	c.(721-723)cGg>cAg	p.R241Q	ITGA11_ENST00000423218.2_Missense_Mutation_p.R241Q|ITGA11_ENST00000562826.1_5'UTR	NM_001004439.1	NP_001004439.1	Q9UKX5	ITA11_HUMAN	integrin, alpha 11	241	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)|cell adhesion mediated by integrin (GO:0033627)|cell-matrix adhesion (GO:0007160)|collagen-activated signaling pathway (GO:0038065)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|muscle organ development (GO:0007517)|osteoblast differentiation (GO:0001649)|substrate-dependent cell migration (GO:0006929)	focal adhesion (GO:0005925)|integrin alpha11-beta1 complex (GO:0034681)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)	collagen binding (GO:0005518)|collagen binding involved in cell-matrix adhesion (GO:0098639)|collagen receptor activity (GO:0038064)|metal ion binding (GO:0046872)	p.R241Q(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(6)|lung(22)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	52						AAATGCCGTCCGGGTCTCTGT	0.413													C|||	1	0.000199681	8e-04	0	5008	,	,		19272	0		0	False		,,,				2504	0					ENST00000423218.2																			1	Substitution - Missense(1)	p.R241Q(1)	prostate(1)	NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(6)|lung(22)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	52						c.(721-723)cGg>cAg		integrin, alpha 11	Tirofiban(DB00775)	C	GLN/ARG	2,3788		0,2,1893	82	79	80		722	5.1	1	15		80	0,8252		0,0,4126	yes	missense	ITGA11	NM_001004439.1	43	0,2,6019	TT,TC,CC		0.0,0.0528,0.0166	probably-damaging	241/1189	68649516	2,12040	1895	4126	6021	SO:0001583	missense	22801				cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development	integrin complex	collagen binding|receptor activity	g.chr15:68649516C>T	AF109681	CCDS45291.1	15q22.3-q23	2010-03-23				ENSG00000137809		"Integrins"	6136	protein-coding gene	gene with protein product		604789				10486209	Standard	NM_001004439		Approved	HsT18964	uc002ari.3	Q9UKX5		ENST00000315757.7:c.722G>A	15.37:g.68649516C>T	ENSP00000327290:p.Arg241Gln					ITGA11_ENST00000562826.1_5'UTR|ITGA11_ENST00000315757.7_Missense_Mutation_p.R241Q	p.R241Q			Q9UKX5	ITA11_HUMAN			7	817	-			241			VWFA.		J3KQM2|Q8WYI8|Q9UKQ1	Missense_Mutation	SNP	ENST00000315757.7	37	c.722G>A	CCDS45291.1	3	0.0013736263736263737	3	0.006097560975609756	0	0.0	0	0.0	0	0.0	C	22.2	4.258498	0.80246	5.28E-4	0.0	ENSG00000137809	ENST00000315757;ENST00000423218;ENST00000537153	T;T	0.55413	0.52;0.52	5.09	5.09	0.68999	von Willebrand factor, type A (3);	0.108034	0.64402	D	0.000007	T	0.57917	0.2086	L	0.47716	1.5	0.34675	D	0.724081	D;D	0.89917	0.999;1.0	D;D	0.71414	0.962;0.973	T	0.68409	-0.5416	10	0.32370	T	0.25	.	17.5009	0.87731	0.0:1.0:0.0:0.0	.	241;241	A8K8T0;Q9UKX5	.;ITA11_HUMAN	Q	241	ENSP00000327290:R241Q;ENSP00000403392:R241Q	ENSP00000327290:R241Q	R	-	2	0	ITGA11	66436570	0.949000	0.32298	1.000000	0.80357	0.977000	0.68977	2.429000	0.44758	2.368000	0.80403	0.561000	0.74099	CGG		0.413	ITGA11-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		NM_012211		23	82	0	0	0	0.681144	0	23	82					T	68649516	C	T	68649516	3	4	35	1	0	0	0	0	1	0	0	0	7874	652	23	2	2940	2	ITGA11	15	68649516	Missense_Mutation	SNP	C	TCGA-CH-5769-01A-11D-1576-08	2031014	68649516	33881876	138	1875											
IDH3A	3419	broad.mit.edu	37	chr15	78455875	78455875	+	Frame_Shift_Del	DEL	A	A	-																															gtcagatgggctttttctacAaaaatgcagggaagttgcag																										TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr15:78455875delA	ENST00000299518.2	+	7	721	c.638delA	c.(637-639)caafs	p.Q213fs	IDH3A_ENST00000558554.1_Frame_Shift_Del_p.Q178fs|IDH3A_ENST00000441490.2_Frame_Shift_Del_p.Q104fs|IDH3A_ENST00000558535.1_3'UTR|IDH3A_ENST00000559205.1_Intron|IDH3A_ENST00000561366.1_5'Flank	NM_005530.2	NP_005521.1	P50213	IDH3A_HUMAN	isocitrate dehydrogenase 3 (NAD+) alpha	213					carbohydrate metabolic process (GO:0005975)|cellular metabolic process (GO:0044237)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	isocitrate dehydrogenase (NAD+) activity (GO:0004449)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)			endometrium(1)|large_intestine(5)|lung(5)|stomach(1)	12						CTTTTTCTACAAAAATGCAGG	0.303																																						ENST00000299518.2																			0				endometrium(1)|large_intestine(5)|lung(5)|stomach(1)	12						c.(637-639)cafs		isocitrate dehydrogenase 3 (NAD+) alpha	NADH(DB00157)						87	91	90					15																	78455875		2196	4293	6489	SO:0001589	frameshift_variant	3419				carbohydrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix	isocitrate dehydrogenase (NAD+) activity|magnesium ion binding|NAD binding	g.chr15:78455875delA		CCDS10297.1	15q25.1-q25.2	2008-07-18			ENSG00000166411	ENSG00000166411	1.1.1.41		5384	protein-coding gene	gene with protein product	"H-IDH alpha", "isocitric dehydrogenase", "isocitrate dehydrogenase [NAD] subunit alpha, mitochondrial", "NAD+-specific ICDH", "NAD(H)-specific isocitrate dehydrogenase alpha subunit", "isocitrate dehydrogenase (NAD+) alpha chain"	601149				8833160	Standard	NM_005530		Approved		uc002bdd.3	P50213	OTTHUMG00000143732	ENST00000299518.2:c.638delA	15.37:g.78455875delA	ENSP00000299518:p.Gln213fs					IDH3A_ENST00000559205.1_Intron|IDH3A_ENST00000558554.1_Frame_Shift_Del_p.Q178fs|IDH3A_ENST00000558535.1_3'UTR|IDH3A_ENST00000441490.2_Frame_Shift_Del_p.Q104fs	p.Q213fs	NM_005530.2	NP_005521.1	P50213	IDH3A_HUMAN			7	721	+			213					D3DW83|Q9H3X0	Frame_Shift_Del	DEL	ENST00000299518.2	37	c.638delA	CCDS10297.1																																																																																				0.303	IDH3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000289799.4	NM_005530		7	147						7	147	---	---	---	---	-	78455875	A	-	78455875	7	5	35	1	0	1	0	1	0	0	0	0	7496	130	5	0	664	0	IDH3A	15	78455875	Frame_Shift_Del	DEL	A	TCGA-CH-5769-01A-11D-1576-08	9806359	78455875	24075517	139	1876											
CASKIN1	57524	broad.mit.edu	37	chr16	2239048	2239048	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgatgatgtcgatgtggccGtttttagctgcgaggtgcaa	7	13	14	7	3	0	2	0	2	0	0	1	4	0	2	1	2	3	3	1	2	2	3	rs376282628		TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr16:2239048G>A	ENST00000343516.6	-	6	689	c.597C>T	c.(595-597)aaC>aaT	p.N199N		NM_020764.3	NP_065815.1	Q8WXD9	CSKI1_HUMAN	CASK interacting protein 1	199					signal transduction (GO:0007165)	cytoplasm (GO:0005737)		p.N199N(1)|p.N28N(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|liver(1)|lung(7)|ovary(4)|prostate(5)|skin(3)	28						CGATGTGGCCGTTTTTAGCTG	0.652																																						ENST00000343516.6																			2	Substitution - coding silent(2)	p.N199N(1)|p.N28N(1)	prostate(2)	breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|liver(1)|lung(7)|ovary(4)|prostate(5)|skin(3)	28						c.(595-597)aaC>aaT		CASK interacting protein 1		G		1,4167		0,1,2083	79	87	84		597	-6.9	0.8	16		84	0,8422		0,0,4211	no	coding-synonymous	CASKIN1	NM_020764.3		0,1,6294	AA,AG,GG		0.0,0.024,0.0079		199/1432	2239048	1,12589	2084	4211	6295	SO:0001819	synonymous_variant	57524				signal transduction	cytoplasm		g.chr16:2239048G>A	AF451977	CCDS42103.1	16p13.3	2013-01-10				ENSG00000167971		"Sterile alpha motif (SAM) domain containing", "Ankyrin repeat domain containing"	20879	protein-coding gene	gene with protein product		612184				12040031	Standard	NM_020764		Approved	KIAA1306, ANKS5A	uc010bsg.1	Q8WXD9		ENST00000343516.6:c.597C>T	16.37:g.2239048G>A							p.N199N	NM_020764.3	NP_065815.1	Q8WXD9	CSKI1_HUMAN			6	689	-			199					Q9P2P0	Silent	SNP	ENST00000343516.6	37	c.597C>T	CCDS42103.1																																																																																				0.652	CASKIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435055.1	NM_020764		21	139	0	0	0	0.608945	0	21	139					A	2239048	G	A	2239048	2	1	35	1	0	0	0	0	0	0	0	1	2666	1136	40	1		1	CASKIN1	16	2239048	Silent	SNP	G	TCGA-CH-5769-01A-11D-1576-08		2239048	88115705	140	1877											
ZSCAN10	84891	broad.mit.edu	37	chr16	3139448	3139448	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggccgcaggtgtcgcaggCgtggggcttctcccctgtgt	2	10	17	12	3	1	0	0	0	1	0	3	0	1	0	3	5	0	3	3	5	0	1	rs149846830	byFrequency	TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr16:3139448C>T	ENST00000252463.2	-	5	1909	c.1822G>A	c.(1822-1824)Gcc>Acc	p.A608T	RP11-473M20.9_ENST00000571404.1_lincRNA|ZSCAN10_ENST00000575108.1_Missense_Mutation_p.A269T|ZSCAN10_ENST00000538082.2_Missense_Mutation_p.A526T	NM_032805.1	NP_116194.1	Q96SZ4	ZSC10_HUMAN	zinc finger and SCAN domain containing 10	608					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|cervix(3)|endometrium(3)|kidney(1)|lung(8)|ovary(2)|prostate(1)|skin(4)|urinary_tract(1)	24						GTGTCGCAGGCGTGGGGCTTC	0.711																																						ENST00000252463.2																			0				breast(1)|cervix(3)|endometrium(3)|kidney(1)|lung(8)|ovary(2)|prostate(1)|skin(4)|urinary_tract(1)	24						c.(1822-1824)Gcc>Acc		zinc finger and SCAN domain containing 10							23	24	24					16																	3139448		2192	4294	6486	SO:0001583	missense	84891				negative regulation of transcription, DNA-dependent|viral reproduction	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr16:3139448C>T	AA206569	CCDS10493.1, CCDS61813.1, CCDS61814.1	16p13.3	2013-01-08	2007-02-20	2007-02-20		ENSG00000130182		"-", "Zinc fingers, C2H2-type"	12997	protein-coding gene	gene with protein product			"zinc finger protein 206"	ZNF206		9653642	Standard	NM_032805		Approved		uc002ctv.1	Q96SZ4		ENST00000252463.2:c.1822G>A	16.37:g.3139448C>T	ENSP00000252463:p.Ala608Thr					ZSCAN10_ENST00000575108.1_Missense_Mutation_p.A269T|ZSCAN10_ENST00000538082.2_Missense_Mutation_p.A526T	p.A608T	NM_032805.1	NP_116194.1	Q96SZ4	ZSC10_HUMAN			5	1909	-			608					B3KQD3|H0YFS6|Q1WWM2	Missense_Mutation	SNP	ENST00000252463.2	37	c.1822G>A	CCDS10493.1	.	.	.	.	.	.	.	.	.	.	C	12.34	1.909004	0.33721	.	.	ENSG00000130182	ENST00000538082;ENST00000252463	T;T	0.36157	1.27;1.28	5.3	3.28	0.37604	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.444758	0.19179	N	0.120726	T	0.13457	0.0326	N	0.10874	0.06	0.80722	D	1	P;D;P	0.53885	0.709;0.963;0.933	B;B;B	0.34138	0.07;0.176;0.093	T	0.03249	-1.1056	10	0.35671	T	0.21	-16.9112	4.9951	0.14235	0.0:0.5749:0.2241:0.201	.	269;541;608	Q96SZ4-2;Q1WWM2;Q96SZ4	.;.;ZSC10_HUMAN	T	541;608	ENSP00000440047:A541T;ENSP00000252463:A608T	ENSP00000252463:A608T	A	-	1	0	ZSCAN10	3079449	0.000000	0.05858	0.998000	0.56505	0.987000	0.75469	-3.636000	0.00407	1.261000	0.44149	0.556000	0.70494	GCC		0.711	ZSCAN10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437124.2	NM_032805		5	84	0	0	0	0.184627	0	5	84					T	3139448	C	T	3139448	3	4	35	1	0	0	0	0	1	0	0	0	18224	768	27	1	359	1	ZSCAN10	16	3139448	Missense_Mutation	SNP	C	TCGA-CH-5769-01A-11D-1576-08	900400	3139448	87215305	141	1878											
CREBBP	1387	broad.mit.edu	37	chr16	3842029	3842029	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttttcaaagggaggcaaacaGgacagtcatgtcgtgtgcag	12	9	13	7	1	2	0	2	0	0	0	3	2	2	2	0	3	2	2	0	3	2	2			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr16:3842029G>T	ENST00000262367.5	-	5	2092	c.1283C>A	c.(1282-1284)cCt>cAt	p.P428H	CREBBP_ENST00000382070.3_Intron	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	428					cellular lipid metabolic process (GO:0044255)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|embryonic digit morphogenesis (GO:0042733)|gene expression (GO:0010467)|germ-line stem cell maintenance (GO:0030718)|histone acetylation (GO:0016573)|homeostatic process (GO:0042592)|innate immune response (GO:0045087)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein complex assembly (GO:0006461)|regulation of smoothened signaling pathway (GO:0008589)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|response to hypoxia (GO:0001666)|rhythmic process (GO:0048511)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nuclear body (GO:0016604)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|histone acetyltransferase activity (GO:0004402)|MRF binding (GO:0043426)|p53 binding (GO:0002039)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		GAGGCAAACAGGACAGTCATG	0.433			"T, N, F, Mis, O"	"MLL, MORF, RUNXBP2"	"ALL, AML, DLBCL, B-NHL "		Rubinstein-Taybi syndrome																															ENST00000262367.5				Dom/Rec	yes		16	16p13.3	1387	"T, N, F, Mis, O"	CREB binding protein (CBP)	yes	Rubinstein-Taybi syndrome	L	"MLL, MORF, RUNXBP2"		"ALL, AML, DLBCL, B-NHL "		0				NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295						c.(1282-1284)cCt>cAt		CREB binding protein							165	146	152					16																	3842029		2197	4300	6497	SO:0001583	missense	1387				cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding	g.chr16:3842029G>T	U85962	CCDS10509.1, CCDS45399.1	16p13.3	2011-07-01	2008-08-01		ENSG00000005339	ENSG00000005339		"Chromatin-modifying enzymes / K-acetyltransferases"	2348	protein-coding gene	gene with protein product		600140	"Rubinstein-Taybi syndrome"	RSTS		8413673	Standard	NM_001079846		Approved	RTS, CBP, KAT3A	uc002cvv.3	Q92793	OTTHUMG00000129431	ENST00000262367.5:c.1283C>A	16.37:g.3842029G>T	ENSP00000262367:p.Pro428His					CREBBP_ENST00000382070.3_Intron	p.P428H	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)	5	2092	-		Ovarian(90;0.0266)	428					D3DUC9|O00147|Q16376|Q4LE28	Missense_Mutation	SNP	ENST00000262367.5	37	c.1283C>A	CCDS10509.1	.	.	.	.	.	.	.	.	.	.	G	17.01	3.278803	0.59758	.	.	ENSG00000005339	ENST00000262367	D	0.92299	-3.01	5.76	4.79	0.61399	Zinc finger, TAZ-type (5);	.	.	.	.	D	0.96491	0.8855	M	0.86651	2.83	0.54753	D	0.999987	D	0.89917	1.0	D	0.91635	0.999	D	0.97042	0.9758	9	0.66056	D	0.02	-4.1851	16.7098	0.85382	0.0:0.1296:0.8704:0.0	.	428	Q92793	CBP_HUMAN	H	428	ENSP00000262367:P428H	ENSP00000262367:P428H	P	-	2	0	CREBBP	3782030	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.813000	0.99286	1.398000	0.46701	0.655000	0.94253	CCT		0.433	CREBBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251591.2	NM_004380		5	193	1	0	0.217242	0.217242	0.219351	5	193					T	3842029	G	T	3842029	3	4	35	1	0	0	0	0	1	0	0	0	3861	1000	35	5	6153	5	CREBBP	16	3842029	Missense_Mutation	SNP	G	TCGA-CH-5769-01A-11D-1576-08	702581	3842029	86512724	142	1879											
XYLT1	64131	broad.mit.edu	37	chr16	17232351	17232351	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgttgtccaccatggtgtcgCagtgggggctgttctccagg	4	12	15	10	1	1	0	0	0	1	0	4	0	2	0	3	4	0	4	3	4	0	2			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr16:17232351C>T	ENST00000261381.6	-	8	1709	c.1625G>A	c.(1624-1626)tGc>tAc	p.C542Y	CTD-2576D5.4_ENST00000567344.1_RNA	NM_022166.3	NP_071449.1	Q86Y38	XYLT1_HUMAN	xylosyltransferase I	542					cellular response to heat (GO:0034605)|chondroitin sulfate biosynthetic process (GO:0030206)|glycosaminoglycan biosynthetic process (GO:0006024)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)	endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	acetylglucosaminyltransferase activity (GO:0008375)|protein xylosyltransferase activity (GO:0030158)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						CATGGTGTCGCAGTGGGGGCT	0.607																																						ENST00000261381.6																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						c.(1624-1626)tGc>tAc		xylosyltransferase I							104	84	91					16																	17232351		2197	4300	6497	SO:0001583	missense	64131				glycosaminoglycan biosynthetic process	endoplasmic reticulum membrane|extracellular region|Golgi membrane|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity	g.chr16:17232351C>T	AJ277441	CCDS10569.1	16p12	2013-02-25			ENSG00000103489	ENSG00000103489	2.4.2.26	"Glucosaminyl (N-acetyl) transferase and xylosyltransferase family"	15516	protein-coding gene	gene with protein product	"protein xylosyltransferase 1"	608124				11099377	Standard	NM_022166		Approved	XT-I, PXYLT1	uc002dfa.3	Q86Y38	OTTHUMG00000129975	ENST00000261381.6:c.1625G>A	16.37:g.17232351C>T	ENSP00000261381:p.Cys542Tyr					CTD-2576D5.4_ENST00000567344.1_RNA	p.C542Y	NM_022166.3	NP_071449.1	Q86Y38	XYLT1_HUMAN			8	1709	-			542					Q9H1B6	Missense_Mutation	SNP	ENST00000261381.6	37	c.1625G>A	CCDS10569.1	.	.	.	.	.	.	.	.	.	.	C	24.5	4.532980	0.85812	.	.	ENSG00000103489	ENST00000261381	T	0.10668	2.85	4.73	4.73	0.59995	.	0.000000	0.85682	D	0.000000	T	0.35307	0.0927	M	0.77616	2.38	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.13388	-1.0511	10	0.62326	D	0.03	-34.981	16.8762	0.86052	0.0:1.0:0.0:0.0	.	542	Q86Y38	XYLT1_HUMAN	Y	542	ENSP00000261381:C542Y	ENSP00000261381:C542Y	C	-	2	0	XYLT1	17139852	1.000000	0.71417	0.972000	0.41901	0.965000	0.64279	7.561000	0.82288	2.456000	0.83038	0.655000	0.94253	TGC		0.607	XYLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252241.2	NM_022166		5	99	0	0	0	0.217242	0	5	99					T	17232351	C	T	17232351	3	4	35	1	0	0	0	0	1	0	0	0	17460	710	25	3	1274	3	XYLT1	16	17232351	Missense_Mutation	SNP	C	TCGA-CH-5769-01A-11D-1576-08	13390322	17232351	73122402	143	1880											
CDR2	1039	broad.mit.edu	37	chr16	22358681	22358681	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtctcctcgtggcccttcaCgatgtcactccctgccaagc	5	10	9	17	2	3	0	2	0	1	0	6	1	4	0	4	2	2	0	4	2	1	1	rs145715358		TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr16:22358681C>T	ENST00000268383.2	-	5	1277	c.970G>A	c.(970-972)Gtg>Atg	p.V324M		NM_001802.1	NP_001793.1	Q01850	CDR2_HUMAN	cerebellar degeneration-related protein 2, 62kDa	324						cytoplasm (GO:0005737)				endometrium(3)|large_intestine(3)|lung(3)|skin(1)|urinary_tract(1)	11				GBM - Glioblastoma multiforme(48;0.0188)		TGGCCCTTCACGATGTCACTC	0.577													C|||	1	0.000199681	0	0	5008	,	,		21233	0.001		0	False		,,,				2504	0					ENST00000268383.2																			0				endometrium(3)|large_intestine(3)|lung(3)|skin(1)|urinary_tract(1)	11						c.(970-972)Gtg>Atg		cerebellar degeneration-related protein 2, 62kDa		C	MET/VAL	1,4393	2.1+/-5.4	0,1,2196	75	56	63		970	5.7	0.9	16	dbSNP_134	63	0,8600		0,0,4300	no	missense	CDR2	NM_001802.1	21	0,1,6496	TT,TC,CC		0.0,0.0228,0.0077	possibly-damaging	324/455	22358681	1,12993	2197	4300	6497	SO:0001583	missense	1039					nucleus	protein binding	g.chr16:22358681C>T	M63256	CCDS32404.1	16p13.1-p12	2008-02-05	2002-08-29			ENSG00000140743			1799	protein-coding gene	gene with protein product	"Yo paraneoplastic antigen"	117340	"cerebellar degeneration-related protein (62kD)"			2014264	Standard	NM_001802		Approved	CDR62, Yo	uc002dkn.3	Q01850		ENST00000268383.2:c.970G>A	16.37:g.22358681C>T	ENSP00000268383:p.Val324Met						p.V324M	NM_001802.1	NP_001793.1	Q01850	CDR2_HUMAN		GBM - Glioblastoma multiforme(48;0.0188)	5	1277	-			324					A8K8A8|Q13977	Missense_Mutation	SNP	ENST00000268383.2	37	c.970G>A	CCDS32404.1	.	.	.	.	.	.	.	.	.	.	C	17.00	3.275601	0.59649	2.28E-4	0.0	ENSG00000140743	ENST00000268383	T	0.53423	0.62	5.66	5.66	0.87406	.	0.249982	0.39544	N	0.001328	T	0.39835	0.1093	L	0.50333	1.59	0.27830	N	0.941471	P	0.42757	0.789	B	0.34418	0.182	T	0.47649	-0.9101	10	0.39692	T	0.17	-16.6607	14.2315	0.65895	0.0:0.733:0.267:0.0	.	324	Q01850	CDR2_HUMAN	M	324	ENSP00000268383:V324M	ENSP00000268383:V324M	V	-	1	0	CDR2	22266182	0.982000	0.34865	0.850000	0.33497	0.798000	0.45092	3.993000	0.56987	2.659000	0.90383	0.563000	0.77884	GTG		0.577	CDR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430081.1			8	63	0	0	0	0.27861	0	8	63					T	22358681	C	T	22358681	3	4	35	1	0	0	0	0	1	0	0	0	3172	536	19	1	398	1	CDR2	16	22358681	Missense_Mutation	SNP	C	TCGA-CH-5769-01A-11D-1576-08	5126330	22358681	67996072	144	1881											
SMPD3	55512	broad.mit.edu	37	chr16	68405352	68405352	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcctcgccaccgatgcgcaCgatgcaggcatcctccgggc	6	6	11	18	5	0	0	0	0	0	0	4	2	3	0	5	2	2	3	5	2	0	0	rs200081668		TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr16:68405352C>T	ENST00000219334.5	-	3	1336	c.733G>A	c.(733-735)Gtg>Atg	p.V245M	SMPD3_ENST00000563226.1_Missense_Mutation_p.V245M|SMPD3_ENST00000568373.1_Missense_Mutation_p.V245M|SMPD3_ENST00000566009.1_5'Flank	NM_018667.3	NP_061137.1	Q9NY59	NSMA2_HUMAN	sphingomyelin phosphodiesterase 3, neutral membrane (neutral sphingomyelinase II)	245					cell cycle (GO:0007049)|glycosphingolipid metabolic process (GO:0006687)|hematopoietic progenitor cell differentiation (GO:0002244)|peptide hormone secretion (GO:0030072)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)|sphingomyelin catabolic process (GO:0006685)	Golgi cis cisterna (GO:0000137)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|sphingomyelin phosphodiesterase activity (GO:0004767)	p.V245M(1)		breast(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0184)|Epithelial(162;0.0785)	Phosphatidylserine(DB00144)	CCGATGCGCACGATGCAGGCA	0.726																																						ENST00000219334.5																			1	Substitution - Missense(1)	p.V245M(1)	prostate(1)	breast(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21						c.(733-735)Gtg>Atg		sphingomyelin phosphodiesterase 3, neutral membrane (neutral sphingomyelinase II)	Phosphatidylserine(DB00144)						17	19	18					16																	68405352		2193	4288	6481	SO:0001583	missense	55512				cell cycle|multicellular organismal development|sphingomyelin catabolic process	Golgi membrane|integral to membrane|plasma membrane	metal ion binding|sphingomyelin phosphodiesterase activity	g.chr16:68405352C>T	AJ250460	CCDS10867.1	16q22.1	2008-02-05			ENSG00000103056	ENSG00000103056			14240	protein-coding gene	gene with protein product		605777				10823942	Standard	NM_018667		Approved	NSMASE2	uc002ewa.3	Q9NY59	OTTHUMG00000137559	ENST00000219334.5:c.733G>A	16.37:g.68405352C>T	ENSP00000219334:p.Val245Met					SMPD3_ENST00000563226.1_Missense_Mutation_p.V245M|SMPD3_ENST00000568373.1_Missense_Mutation_p.V245M	p.V245M	NM_018667.3	NP_061137.1	Q9NY59	NSMA2_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0184)|Epithelial(162;0.0785)	3	1336	-		Ovarian(137;0.0563)	245					B7ZL82|Q2M1S8	Missense_Mutation	SNP	ENST00000219334.5	37	c.733G>A	CCDS10867.1	.	.	.	.	.	.	.	.	.	.	C	14.87	2.663374	0.47572	.	.	ENSG00000103056	ENST00000219334	.	.	.	5.47	4.43	0.53597	.	0.461133	0.24554	N	0.037525	T	0.25344	0.0616	N	0.19112	0.55	0.34592	D	0.715587	D;D;D	0.56035	0.974;0.974;0.974	B;B;B	0.42692	0.395;0.395;0.395	T	0.29761	-1.0001	9	0.49607	T	0.09	-19.6989	5.022	0.14365	0.0:0.7532:0.0:0.2468	.	245;245;245	B7ZL82;B7ZL84;Q9NY59	.;.;NSMA2_HUMAN	M	245	.	ENSP00000219334:V245M	V	-	1	0	SMPD3	66962853	0.891000	0.30450	0.975000	0.42487	0.124000	0.20399	1.529000	0.35996	2.563000	0.86464	0.561000	0.74099	GTG		0.726	SMPD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268895.3	NM_018667		8	51	0	0	0	0.307466	0	8	51					T	68405352	C	T	68405352	3	4	35	1	0	0	0	0	1	0	0	0	14806	536	19	1	1262	1	SMPD3	16	68405352	Missense_Mutation	SNP	C	TCGA-CH-5769-01A-11D-1576-08	46046671	68405352	21949401	145	1882											
ACSF3	197322	broad.mit.edu	37	chr16	89212411	89212411	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcactgctgtggtgaccctcCgagaaggacactcactgtcc	8	9	10	14	1	2	2	2	1	0	1	4	4	4	3	3	2	1	1	3	2	1	0	rs387907118		TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr16:89212411C>T	ENST00000317447.4	+	10	1944	c.1567C>T	c.(1567-1569)Cga>Tga	p.R523*	ACSF3_ENST00000537116.1_3'UTR|ACSF3_ENST00000378345.4_Nonsense_Mutation_p.R258*|ACSF3_ENST00000406948.3_Nonsense_Mutation_p.R523*	NM_001127214.2|NM_001243279.1|NM_001284316.1|NM_174917.3	NP_001120686.1|NP_001230208.1|NP_001271245.1|NP_777577.2	Q4G176	ACSF3_HUMAN	acyl-CoA synthetase family member 3	523					fatty acid biosynthetic process (GO:0006633)|fatty acid metabolic process (GO:0006631)|malonate catabolic process (GO:0090410)	mitochondrion (GO:0005739)	acid-thiol ligase activity (GO:0016878)|ATP binding (GO:0005524)|malonyl-CoA synthetase activity (GO:0090409)	p.R523*(1)		central_nervous_system(1)|endometrium(1)|kidney(2)|lung(9)|prostate(1)|urinary_tract(1)	15				BRCA - Breast invasive adenocarcinoma(80;0.0281)		GGTGACCCTCCGAGAAGGACA	0.597																																						ENST00000317447.4																			1	Substitution - Nonsense(1)	p.R523*(1)	prostate(1)	central_nervous_system(1)|endometrium(1)|kidney(2)|lung(9)|prostate(1)|urinary_tract(1)	15						c.(1567-1569)Cga>Tga		acyl-CoA synthetase family member 3							133	126	129					16																	89212411		2198	4300	6498	SO:0001587	stop_gained	197322				fatty acid metabolic process	mitochondrion	acid-thiol ligase activity|ATP binding	g.chr16:89212411C>T	AK075499	CCDS10974.1, CCDS73926.1	16q24.3	2013-01-15			ENSG00000176715	ENSG00000176715		"Acyl-CoA synthetase family"	27288	protein-coding gene	gene with protein product	"malonyl-CoA synthetase"	614245				17762044, 21846720	Standard	XM_005256293		Approved		uc010cig.2	Q4G176	OTTHUMG00000138044	ENST00000317447.4:c.1567C>T	16.37:g.89212411C>T	ENSP00000320646:p.Arg523*					ACSF3_ENST00000537116.1_3'UTR|ACSF3_ENST00000406948.3_Nonsense_Mutation_p.R523*|ACSF3_ENST00000378345.4_Nonsense_Mutation_p.R258*	p.R523*	NM_001127214.2|NM_001243279.1|NM_174917.3	NP_001120686.1|NP_001230208.1|NP_777577.2	Q4G176	ACSF3_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0281)	10	1944	+			523					A8K4J8|C9JQL6|Q6INA0|Q8N2F7	Nonsense_Mutation	SNP	ENST00000317447.4	37	c.1567C>T	CCDS10974.1	.	.	.	.	.	.	.	.	.	.	C	11.27	1.590196	0.28357	.	.	ENSG00000176715	ENST00000317447;ENST00000406948;ENST00000378345	.	.	.	4.99	1.79	0.24919	.	0.667247	0.14025	N	0.346505	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.06236	T	0.91	-2.0E-4	10.9663	0.47414	0.1368:0.5993:0.2638:0.0	.	.	.	.	X	523;523;258	.	ENSP00000320646:R523X	R	+	1	2	ACSF3	87739912	0.004000	0.15560	0.000000	0.03702	0.005000	0.04900	0.211000	0.17474	0.103000	0.17682	-0.463000	0.05309	CGA		0.597	ACSF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269919.1	NM_174917		6	161	0	0	0	0.248553	0	6	161					T	89212411	C	T	89212411	4	4	35	1	0	0	0	0	0	1	0	0	176	644	23	2	1597	2	ACSF3	16	89212411	Nonsense_Mutation	SNP	C	TCGA-CH-5769-01A-11D-1576-08	20807059	89212411	1142342	146	1883											
ZFP3	124961	broad.mit.edu	37	chr17	4995356	4995356	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aactaattcaagccttcgacGgcacctgagaattcatgctg	12	10	8	11	2	2	1	2	1	0	1	3	3	2	1	2	1	3	2	2	1	4	4			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr17:4995356G>A	ENST00000318833.3	+	2	893	c.557G>A	c.(556-558)cGg>cAg	p.R186Q		NM_153018.2	NP_694563.1	Q96NJ6	ZFP3_HUMAN	ZFP3 zinc finger protein	186					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R186Q(1)		NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(3)|prostate(1)	20						AGCCTTCGACGGCACCTGAGA	0.393																																						ENST00000318833.3																			1	Substitution - Missense(1)	p.R186Q(1)	prostate(1)	NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(3)|prostate(1)	20						c.(556-558)cGg>cAg		ZFP3 zinc finger protein							94	104	100					17																	4995356		2203	4300	6503	SO:0001583	missense	124961				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr17:4995356G>A	BX647638	CCDS11067.1	17p13.2	2013-01-08	2012-11-27		ENSG00000180787	ENSG00000180787		"Zinc fingers, C2H2-type"	12861	protein-coding gene	gene with protein product		194480	"zinc finger protein homologous to Zfp-3 in mouse", "zinc finger protein 3 homolog (mouse)"				Standard	NM_153018		Approved	FLJ30726, ZNF752	uc002gaq.3	Q96NJ6		ENST00000318833.3:c.557G>A	17.37:g.4995356G>A	ENSP00000320347:p.Arg186Gln						p.R186Q	NM_153018.2	NP_694563.1	Q96NJ6	ZFP3_HUMAN			2	893	+			186					A5PLL4	Missense_Mutation	SNP	ENST00000318833.3	37	c.557G>A	CCDS11067.1	.	.	.	.	.	.	.	.	.	.	G	7.921	0.738590	0.15642	.	.	ENSG00000180787	ENST00000318833	T	0.26223	1.75	4.08	4.08	0.47627	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.36167	N	0.002745	T	0.22437	0.0541	L	0.52905	1.665	0.09310	N	1	D	0.57899	0.981	P	0.44673	0.457	T	0.12344	-1.0551	10	0.09338	T	0.73	-12.4569	9.4826	0.38911	0.0:0.0:0.7893:0.2107	.	186	Q96NJ6	ZFP3_HUMAN	Q	186	ENSP00000320347:R186Q	ENSP00000320347:R186Q	R	+	2	0	ZFP3	4936080	0.000000	0.05858	0.984000	0.44739	0.960000	0.62799	-0.243000	0.08915	2.578000	0.87016	0.557000	0.71058	CGG		0.393	ZFP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438979.1	NM_153018		7	185	0	0	0	0.27861	0	7	185					A	4995356	G	A	4995356	3	1	35	1	0	0	0	0	1	0	0	0	17640	1116	39	2	559	2	ZFP3	17	4995356	Missense_Mutation	SNP	G	TCGA-CH-5769-01A-11D-1576-08		4995356	76199854	147	1884											
USP6	9098	broad.mit.edu	37	chr17	5033903	5033903	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctctgggttacagggacacCgagctgggctgccagaggac	8	6	15	12	1	1	1	0	0	1	1	1	4	1	3	3	4	3	3	3	4	1	1	rs142168522	byFrequency	TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr17:5033903C>T	ENST00000574788.1	+	11	2309	c.79C>T	c.(79-81)Cga>Tga	p.R27*	USP6_ENST00000332776.4_Nonsense_Mutation_p.R27*|USP6_ENST00000304328.5_5'UTR|USP6_ENST00000572429.1_Intron|USP6_ENST00000250066.6_Nonsense_Mutation_p.R27*			P35125	UBP6_HUMAN	ubiquitin specific peptidase 6	27					cellular protein modification process (GO:0006464)|protein deubiquitination (GO:0016579)|regulation of vesicle-mediated transport (GO:0060627)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	calmodulin binding (GO:0005516)|cysteine-type endopeptidase activity (GO:0004197)|nucleic acid binding (GO:0003676)|Rab GTPase activator activity (GO:0005097)|ubiquitin-specific protease activity (GO:0004843)	p.R27*(2)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						ACAGGGACACCGAGCTGGGCT	0.597			T	"COL1A1, CDH11, ZNF9, OMD"	aneurysmal bone cysts								C|||	4	0.000798722	0	0	5008	,	,		19365	0		0	False		,,,				2504	0.0041					ENST00000574788.1				Dom	yes		17	17p13	9098	T	ubiquitin specific peptidase 6 (Tre-2 oncogene)			M	"COL1A1, CDH11, ZNF9, OMD"		aneurysmal bone cysts		2	Substitution - Nonsense(2)	p.R27*(2)	prostate(2)	breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						c.(79-81)Cga>Tga		ubiquitin specific peptidase 6 (Tre-2 oncogene)		C	stop/ARG	1,4405	2.1+/-5.4	0,1,2202	109	120	116		79	0.1	0.2	17	dbSNP_134	116	0,8600		0,0,4300	no	stop-gained	USP6	NM_004505.2		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		27/1407	5033903	1,13005	2203	4300	6503	SO:0001587	stop_gained	9098				protein deubiquitination|regulation of vesicle-mediated transport|ubiquitin-dependent protein catabolic process	lysosome|plasma membrane|recycling endosome	calmodulin binding|cysteine-type endopeptidase activity|nucleic acid binding|protein binding|Rab GTPase activator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr17:5033903C>T	X63547	CCDS11069.2	17p13	2014-06-12	2014-06-12		ENSG00000129204	ENSG00000129204	3.4.19.12	"Ubiquitin-specific peptidases"	12629	protein-coding gene	gene with protein product	"ubiquitin carboxyl-terminal hydrolase 6", "TBC1D3 and USP32 fusion", "Tre-2 oncogene"	604334	"ubiquitin specific protease 6 (Tre-2 oncogene)", "TRE oncogene, Smith Magenis syndrome chromosome region", "ubiquitin specific peptidase 6 (Tre-2 oncogene)"	HRP1, TRESMCR		12838346, 1349106	Standard	NM_004505		Approved	Tre-2, TRE17, Tre2	uc002gav.1	P35125	OTTHUMG00000099449	ENST00000574788.1:c.79C>T	17.37:g.5033903C>T	ENSP00000460380:p.Arg27*					USP6_ENST00000304328.5_5'UTR|USP6_ENST00000572429.1_Intron|USP6_ENST00000332776.4_Nonsense_Mutation_p.R27*|USP6_ENST00000250066.6_Nonsense_Mutation_p.R27*	p.R27*			P35125	UBP6_HUMAN			11	2309	+			27					Q15634|Q86WP6|Q8IWT4	Nonsense_Mutation	SNP	ENST00000574788.1	37	c.79C>T	CCDS11069.2	.	.	.	.	.	.	.	.	.	.	C	48	13.907112	0.99769	2.27E-4	0.0	ENSG00000129204	ENST00000332776;ENST00000250066;ENST00000396805;ENST00000357482	.	.	.	0.0465	0.0465	0.14256	.	0.172806	0.52532	D	0.000075	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	.	.	.	.	.	.	.	X	27	.	ENSP00000250066:R27X	R	+	1	2	USP6	4974627	0.977000	0.34250	0.160000	0.22671	0.162000	0.22319	-0.528000	0.06193	0.132000	0.18615	0.134000	0.15878	CGA		0.597	USP6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438990.1	NM_004505		21	162	0	0	0	0.639603	0	21	162					T	5033903	C	T	5033903	4	4	35	1	0	0	0	0	0	1	0	0	17083	644	23	2	85	2	USP6	17	5033903	Nonsense_Mutation	SNP	C	TCGA-CH-5769-01A-11D-1576-08	38547	5033903	76161307	148	1885											
PITPNM3	83394	broad.mit.edu	37	chr17	6381355	6381355	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gggctgtcccctgagggcccCgcactgtagcagatggcatc	6	7	14	14	1	0	2	0	1	0	1	2	2	1	2	4	3	1	5	4	3	1	1			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr17:6381355C>T	ENST00000262483.8	-	8	927	c.840G>A	c.(838-840)gcG>gcA	p.A280A	PITPNM3_ENST00000421306.3_Silent_p.A244A	NM_031220.3	NP_112497.2	Q9BZ71	PITM3_HUMAN	PITPNM family member 3	280	Ser-rich.				phosphatidylinositol metabolic process (GO:0046488)|phospholipid transport (GO:0015914)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)	calcium ion binding (GO:0005509)|lipid binding (GO:0008289)|phosphatidylinositol transporter activity (GO:0008526)|receptor tyrosine kinase binding (GO:0030971)	p.A280A(2)		autonomic_ganglia(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(3)|skin(2)	36				Colorectal(2;0.000372)|READ - Rectum adenocarcinoma(2;0.0276)|LUAD - Lung adenocarcinoma(2;0.0836)|COAD - Colon adenocarcinoma(228;0.185)		CTGAGGGCCCCGCACTGTAGC	0.672																																						ENST00000262483.8																			2	Substitution - coding silent(2)	p.A280A(2)	prostate(2)								c.(838-840)gcG>gcA									56	63	60					17																	6381355		2203	4300	6503	SO:0001819	synonymous_variant	0							g.chr17:6381355C>T	AF334586	CCDS11076.1, CCDS54080.1	17p13	2013-07-18	2013-07-18	2013-07-18	ENSG00000091622	ENSG00000091622		"GPCR / Class A : Chemokine receptors : Atypical"	21043	protein-coding gene	gene with protein product	"atypical chemokine receptor 6"	608921	"cone rod dystrophy 5"	CORD5		10022914	Standard	NM_031220		Approved	NIR1, RDGBA3, ACKR6	uc002gdd.4	Q9BZ71	OTTHUMG00000102039	ENST00000262483.8:c.840G>A	17.37:g.6381355C>T						ACKR6_ENST00000421306.3_Silent_p.A244A	p.A280A	NM_031220.3	NP_112497.2					8	927	-								A1A5D0|F8WEW5|Q59GH9|Q9NPQ4	Silent	SNP	ENST00000262483.8	37	c.840G>A	CCDS11076.1																																																																																				0.672	PITPNM3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000219824.2	NM_031220		21	141	0	0	0	0.624587	0	21	141					T	6381355	C	T	6381355	2	4	35	1	0	0	0	0	0	0	0	1	11952	639	23	2		2	PITPNM3	17	6381355	Silent	SNP	C	TCGA-CH-5769-01A-11D-1576-08	1347452	6381355	74813855	149	1886											
SLC13A5	284111	broad.mit.edu	37	chr17	6606330	6606330	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	accacgttgggtcccgtcccGgtcagggtggcggtgccccc	3	7	15	16	4	1	0	1	0	0	0	3	0	3	0	5	5	1	1	5	5	0	1			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr17:6606330G>A	ENST00000433363.2	-	5	908	c.675C>T	c.(673-675)acC>acT	p.T225T	SLC13A5_ENST00000293800.6_Silent_p.T208T|SLC13A5_ENST00000381074.4_Silent_p.T182T|SLC13A5_ENST00000573648.1_Silent_p.T225T	NM_001284510.1|NM_177550.3	NP_001271439.1|NP_808218.1	Q86YT5	S13A5_HUMAN	solute carrier family 13 (sodium-dependent citrate transporter), member 5	225					transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	citrate transmembrane transporter activity (GO:0015137)|sodium:dicarboxylate symporter activity (GO:0017153)|succinate transmembrane transporter activity (GO:0015141)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|prostate(5)|skin(3)|urinary_tract(1)	26						GTCCCGTCCCGGTCAGGGTGG	0.647																																						ENST00000433363.2																			0				breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|prostate(5)|skin(3)|urinary_tract(1)	26						c.(673-675)acC>acT		solute carrier family 13 (sodium-dependent citrate transporter), member 5							118	99	105					17																	6606330		2203	4300	6503	SO:0001819	synonymous_variant	284111					integral to membrane	citrate transmembrane transporter activity	g.chr17:6606330G>A	AJ489980	CCDS11079.1, CCDS45593.1, CCDS67136.1, CCDS67137.1	17p13.1	2013-05-22			ENSG00000141485	ENSG00000141485		"Solute carriers"	23089	protein-coding gene	gene with protein product		608305				12445824	Standard	NM_001284510		Approved	NACT	uc002gdj.3	Q86YT5	OTTHUMG00000102052	ENST00000433363.2:c.675C>T	17.37:g.6606330G>A						SLC13A5_ENST00000381074.4_Silent_p.T182T|SLC13A5_ENST00000573648.1_Silent_p.T225T|SLC13A5_ENST00000293800.6_Silent_p.T208T	p.T225T	NM_177550.3	NP_808218.1	Q86YT5	S13A5_HUMAN			5	908	-			225					B3KXR0|B7Z4P2|B7ZLB4|F8W7N2|Q6ZMG1	Silent	SNP	ENST00000433363.2	37	c.675C>T	CCDS11079.1																																																																																				0.647	SLC13A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219853.2	NM_177550		5	170	0	0	0	0.217242	0	5	170					A	6606330	G	A	6606330	2	1	35	1	0	0	0	0	0	0	0	1	14395	1103	39	2		2	SLC13A5	17	6606330	Silent	SNP	G	TCGA-CH-5769-01A-11D-1576-08	224975	6606330	74588880	150	1887											
MYH13	8735	broad.mit.edu	37	chr17	10212613	10212613	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctcctgctctgacagcctgcGggtccgctccgtctgttcca	3	11	10	17	3	2	1	0	1	2	0	6	1	6	1	5	1	3	3	5	1	0	1			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr17:10212613G>A	ENST00000418404.3	-	34	5270	c.5107C>T	c.(5107-5109)Cgc>Tgc	p.R1703C	MYH13_ENST00000252172.4_Missense_Mutation_p.R1703C|RP11-401O9.4_ENST00000609088.1_RNA			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	1703					cellular response to starvation (GO:0009267)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)	extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)	p.R1703S(2)		breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						GACAGCCTGCGGGTCCGCTCC	0.667																																						ENST00000418404.3																			2	Substitution - Missense(2)	p.R1703S(2)	lung(2)	breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						c.(5107-5109)Cgc>Tgc		myosin, heavy chain 13, skeletal muscle							27	29	28					17																	10212613		2126	4243	6369	SO:0001583	missense	8735				muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr17:10212613G>A	AF075248	CCDS45613.1	17p13	2011-09-27	2006-09-29			ENSG00000006788		"Myosins / Myosin superfamily : Class II"	7571	protein-coding gene	gene with protein product	"extraocular muscle myosin heavy chain", "extraocular myosin heavy chain"	603487	"myosin, heavy polypeptide 13, skeletal muscle"			9806854	Standard	NM_003802		Approved	MyHC-eo	uc002gmk.1	Q9UKX3		ENST00000418404.3:c.5107C>T	17.37:g.10212613G>A	ENSP00000404570:p.Arg1703Cys					MYH13_ENST00000252172.4_Missense_Mutation_p.R1703C|MYH13_ENST00000570743.1_Missense_Mutation_p.R1703C	p.R1703C			Q9UKX3	MYH13_HUMAN			34	5270	-			1703					O95252|Q9P0U8	Missense_Mutation	SNP	ENST00000418404.3	37	c.5107C>T	CCDS45613.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.069822	0.76301	.	.	ENSG00000006788	ENST00000252172	D	0.85013	-1.93	4.45	4.45	0.53987	Myosin tail (1);	.	.	.	.	D	0.93687	0.7983	M	0.90595	3.13	0.51012	D	0.999908	D	0.89917	1.0	D	0.97110	1.0	D	0.94923	0.8075	9	0.72032	D	0.01	.	17.6487	0.88157	0.0:0.0:1.0:0.0	.	1703	Q9UKX3	MYH13_HUMAN	C	1703	ENSP00000252172:R1703C	ENSP00000252172:R1703C	R	-	1	0	MYH13	10153338	0.979000	0.34478	1.000000	0.80357	0.953000	0.61014	2.112000	0.41892	2.465000	0.83290	0.655000	0.94253	CGC		0.667	MYH13-003	KNOWN	alternative_3_UTR|alternative_5_UTR|NMD_exception|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442255.1	NM_003802		4	48	0	0	0	0.217242	0	4	48					A	10212613	G	A	10212613	3	1	35	1	0	0	0	0	1	0	0	0	10032	1116	39	2	737	2	MYH13	17	10212613	Missense_Mutation	SNP	G	TCGA-CH-5769-01A-11D-1576-08	3606283	10212613	70982597	151	1888											
DNAH9	1770	broad.mit.edu	37	chr17	11865470	11865470	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actggaccagatggccctgcAatgtgacatgacgaagaaga	14	6	12	9	1	0	5	0	2	0	3	0	7	0	6	2	2	1	1	2	2	3	0			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr17:11865470A>C	ENST00000262442.4	+	68	13198	c.13130A>C	c.(13129-13131)cAa>cCa	p.Q4377P	DNAH9_ENST00000454412.2_Missense_Mutation_p.Q4301P|RP11-1096G20.5_ENST00000580270.1_RNA|DNAH9_ENST00000608377.1_Missense_Mutation_p.Q689P|DNAH9_ENST00000396001.2_3'UTR	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	4377					cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		ATGGCCCTGCAATGTGACATG	0.562																																						ENST00000262442.3																			0				NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290						c.(13129-13131)cAa>cCa		dynein, axonemal, heavy chain 9							74	73	73					17																	11865470		2203	4300	6503	SO:0001583	missense	1770				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:11865470A>C	U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"Axonemal dyneins"	2953	protein-coding gene	gene with protein product		603330	"dynein, axonemal, heavy polypeptide 17-like", "dynein, axonemal, heavy polypeptide 9"	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.13130A>C	17.37:g.11865470A>C	ENSP00000262442:p.Gln4377Pro					DNAH9_ENST00000454412.2_Missense_Mutation_p.Q4301P|RP11-1096G20.5_ENST00000580270.1_RNA|DNAH9_ENST00000396001.2_Missense_Mutation_p.Q689P	p.Q4377P	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)	68	13198	+		Breast(5;0.0122)|all_epithelial(5;0.131)	4377					A2VCQ8|O15064|O95494|Q9NQ28	Missense_Mutation	SNP	ENST00000262442.4	37	c.13130A>C	CCDS11160.1	.	.	.	.	.	.	.	.	.	.	A	15.06	2.720031	0.48728	.	.	ENSG00000007174	ENST00000262442;ENST00000454412;ENST00000413703;ENST00000396001	T;T;T	0.09350	2.99;2.99;2.99	5.04	5.04	0.67666	Dynein heavy chain (1);	0.000000	0.85682	D	0.000000	T	0.30386	0.0763	M	0.87328	2.875	0.51482	D	0.999928	P	0.48230	0.907	P	0.56865	0.808	T	0.04454	-1.0950	10	0.36615	T	0.2	.	11.0149	0.47682	0.8443:0.1557:0.0:0.0	.	4377	Q9NYC9	DYH9_HUMAN	P	4377;4301;2883;689	ENSP00000262442:Q4377P;ENSP00000414874:Q4301P;ENSP00000379323:Q689P	ENSP00000262442:Q4377P	Q	+	2	0	DNAH9	11806195	1.000000	0.71417	0.976000	0.42696	0.938000	0.57974	4.774000	0.62339	2.116000	0.64780	0.533000	0.62120	CAA		0.562	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2	NM_001372		9	106	0	0	0	0.335167	0	9	106					C	11865470	A	C	11865470	3	2	35	1	0	0	0	0	1	0	0	0	4608	130	5	5	13400	5	DNAH9	17	11865470	Missense_Mutation	SNP	A	TCGA-CH-5769-01A-11D-1576-08	1652857	11865470	69329740	152	1889											
RAI1	10743	broad.mit.edu	37	chr17	17701153	17701153	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acaggaagccttcctcctctGcctcctcttcctcatcctcg	5	12	5	19	1	3	0	1	0	2	0	9	1	8	1	7	1	2	0	7	1	1	2			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr17:17701153G>A	ENST00000353383.1	+	3	5360	c.4891G>A	c.(4891-4893)Gcc>Acc	p.A1631T	RAI1_ENST00000261641.6_Intron	NM_030665.3	NP_109590.3	Q7Z5J4	RAI1_HUMAN	retinoic acid induced 1	1631	Ser-rich.				circadian regulation of gene expression (GO:0032922)|negative regulation of multicellular organism growth (GO:0040015)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	enhancer binding (GO:0035326)|zinc ion binding (GO:0008270)	p.A1631T(1)		breast(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(5)|urinary_tract(7)	48				READ - Rectum adenocarcinoma(1115;0.0276)		Ttcctcctctgcctcctcttc	0.637																																						ENST00000353383.1																			1	Substitution - Missense(1)	p.A1631T(1)	prostate(1)	breast(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(5)|urinary_tract(7)	48						c.(4891-4893)Gcc>Acc		retinoic acid induced 1							89	97	94					17																	17701153		2203	4300	6503	SO:0001583	missense	10743					cytoplasm|nucleus	zinc ion binding	g.chr17:17701153G>A	AJ230819	CCDS11188.1	17p11.2	2011-02-08			ENSG00000108557	ENSG00000108557			9834	protein-coding gene	gene with protein product		607642	"Smith-Magenis syndrome chromosome region"	SMCR		10036180	Standard	NM_030665		Approved	DKFZP434A139, SMS, KIAA1820, MGC12824	uc002grm.3	Q7Z5J4	OTTHUMG00000059314	ENST00000353383.1:c.4891G>A	17.37:g.17701153G>A	ENSP00000323074:p.Ala1631Thr					RAI1_ENST00000261641.6_Intron	p.A1631T	NM_030665.3	NP_109590.3	Q7Z5J4	RAI1_HUMAN		READ - Rectum adenocarcinoma(1115;0.0276)	3	5360	+			1631			Ser-rich.		Q8N3B4|Q8ND08|Q8WU64|Q96JK5|Q9H1C1|Q9H1C2|Q9UF69	Missense_Mutation	SNP	ENST00000353383.1	37	c.4891G>A	CCDS11188.1	.	.	.	.	.	.	.	.	.	.	G	2.506	-0.314160	0.05422	.	.	ENSG00000108557	ENST00000353383;ENST00000395776;ENST00000315321	T	0.65916	-0.18	4.26	-6.05	0.02172	.	1.201170	0.06034	N	0.653695	T	0.39937	0.1097	N	0.22421	0.69	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.18304	-1.0341	10	0.32370	T	0.25	.	4.7399	0.13007	0.4551:0.0:0.1606:0.3843	.	1631	Q7Z5J4	RAI1_HUMAN	T	1631;1631;1519	ENSP00000323074:A1631T	ENSP00000322928:A1519T	A	+	1	0	RAI1	17641878	0.001000	0.12720	0.003000	0.11579	0.283000	0.27025	0.004000	0.13106	-0.871000	0.04042	0.555000	0.69702	GCC		0.637	RAI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131775.1	NM_030665		10	152	0	0	0	0.361761	0	10	152					A	17701153	G	A	17701153	3	1	35	1	0	0	0	0	1	0	0	0	13007	1319	46	3	4893	3	RAI1	17	17701153	Missense_Mutation	SNP	G	TCGA-CH-5769-01A-11D-1576-08	5835683	17701153	63494057	153	1890											
MYO15A	51168	broad.mit.edu	37	chr17	18043898	18043898	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gcgcctgggcaagagcagctCcgtcactcggctctacaagg	8	6	13	14	3	2	1	1	0	1	1	4	1	3	1	2	3	3	4	2	3	3	1			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr17:18043898C>A	ENST00000205890.5	+	20	5617	c.5279C>A	c.(5278-5280)tCc>tAc	p.S1760Y	MYO15A_ENST00000412324.1_3'UTR	NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	1760	Myosin motor.				inner ear morphogenesis (GO:0042472)|locomotory behavior (GO:0007626)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|stereocilium (GO:0032420)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					AAGAGCAGCTCCGTCACTCGG	0.647											OREG0024223	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000205890.5																			0				breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99						c.(5278-5280)tCc>tAc		myosin XVA							70	82	78					17																	18043898		2020	4180	6200	SO:0001583	missense	51168				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity	g.chr17:18043898C>A	AF144094	CCDS42271.1	17p11.2	2011-09-27			ENSG00000091536	ENSG00000091536		"Myosins / Myosin superfamily : Class XV"	7594	protein-coding gene	gene with protein product		602666		DFNB3, MYO15		9603736	Standard	NM_016239		Approved		uc021trl.1	Q9UKN7	OTTHUMG00000059390	ENST00000205890.5:c.5279C>A	17.37:g.18043898C>A	ENSP00000205890:p.Ser1760Tyr		OREG0024223	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	722	MYO15A_ENST00000412324.1_3'UTR	p.S1760Y	NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN			20	5617	+	all_neural(463;0.228)		1760			Myosin head-like.		B4DFC7	Missense_Mutation	SNP	ENST00000205890.5	37	c.5279C>A	CCDS42271.1	.	.	.	.	.	.	.	.	.	.	C	16.29	3.080400	0.55753	.	.	ENSG00000091536	ENST00000205890	D	0.87729	-2.29	4.0	4.0	0.46444	Myosin head, motor domain (2);	.	.	.	.	D	0.92541	0.7631	M	0.75085	2.285	0.80722	D	1	D	0.71674	0.998	D	0.66979	0.948	D	0.93432	0.6786	9	0.59425	D	0.04	.	16.9786	0.86321	0.0:1.0:0.0:0.0	.	1760	Q9UKN7	MYO15_HUMAN	Y	1760	ENSP00000205890:S1760Y	ENSP00000205890:S1760Y	S	+	2	0	MYO15A	17984623	1.000000	0.71417	0.925000	0.36789	0.987000	0.75469	7.160000	0.77495	2.190000	0.69967	0.462000	0.41574	TCC		0.647	MYO15A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132048.1	NM_016239		9	275	1	0	0.000673444	0.361761	0.000714675	9	275					A	18043898	C	A	18043898	3	1	35	1	0	0	0	0	1	0	0	0	10063	855	30	5	5349	5	MYO15A	17	18043898	Missense_Mutation	SNP	C	TCGA-CH-5769-01A-11D-1576-08	342745	18043898	63151312	154	1891											
SLC5A10	125206	broad.mit.edu	37	chr17	18872377	18872377	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccgcagctggacctgtacGcgggggctctgtttgtgcac	4	10	14	13	3	1	0	0	0	1	0	2	1	2	1	2	3	3	6	2	3	1	2			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr17:18872377G>A	ENST00000395645.3	+	6	484	c.466G>A	c.(466-468)Gcg>Acg	p.A156T	SLC5A10_ENST00000417251.2_Missense_Mutation_p.A156T|SLC5A10_ENST00000395643.2_Missense_Mutation_p.A156T|SLC5A10_ENST00000395642.1_Missense_Mutation_p.A100T|SLC5A10_ENST00000317977.6_Missense_Mutation_p.A100T|FAM83G_ENST00000388995.6_3'UTR|SLC5A10_ENST00000395647.2_Missense_Mutation_p.A156T	NM_001042450.2	NP_001035915.1	A0PJK1	SC5AA_HUMAN	solute carrier family 5 (sodium/sugar cotransporter), member 10	156					sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)	p.A156T(1)		central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(3)|ovary(3)|prostate(3)|skin(3)	24						GGACCTGTACGCGGGGGCTCT	0.612																																						ENST00000317977.6																			1	Substitution - Missense(1)	p.A156T(1)	prostate(1)	central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(3)|ovary(3)|prostate(3)|skin(3)	24						c.(298-300)Gcg>Acg		solute carrier family 5 (sodium/sugar cotransporter), member 10							123	97	106					17																	18872377		2203	4300	6503	SO:0001583	missense	125206				sodium ion transport|transmembrane transport	integral to membrane	transporter activity	g.chr17:18872377G>A		CCDS11201.2, CCDS42275.1, CCDS59277.1, CCDS59278.1, CCDS74008.1	17p11.2	2013-07-19	2013-07-19		ENSG00000154025	ENSG00000154025		"Solute carriers"	23155	protein-coding gene	gene with protein product			"solute carrier family 5 (sodium/glucose cotransporter), member 10"				Standard	NM_152351		Approved	SGLT5	uc002gut.2	A0PJK1	OTTHUMG00000178143	ENST00000395645.3:c.466G>A	17.37:g.18872377G>A	ENSP00000379007:p.Ala156Thr					SLC5A10_ENST00000395643.2_Missense_Mutation_p.A156T|SLC5A10_ENST00000395645.3_Missense_Mutation_p.A156T|SLC5A10_ENST00000395647.2_Missense_Mutation_p.A156T|SLC5A10_ENST00000395642.1_Missense_Mutation_p.A100T|SLC5A10_ENST00000417251.2_Missense_Mutation_p.A156T|FAM83G_ENST00000388995.6_3'UTR	p.A100T			A0PJK1	SC5AA_HUMAN			6	869	+			156					A8MUC9|B4DPI0|B7WPR4|Q6P5X0|Q8IXM4|Q96LQ1	Missense_Mutation	SNP	ENST00000395645.3	37	c.298G>A	CCDS42275.1	.	.	.	.	.	.	.	.	.	.	G	15.41	2.825416	0.50739	.	.	ENSG00000154025	ENST00000317977;ENST00000395647;ENST00000395642;ENST00000417251;ENST00000395645;ENST00000395643	D;D;D;D;D;D	0.92397	-3.03;-2.49;-3.03;-2.49;-2.49;-2.67	4.82	2.63	0.31362	.	0.057677	0.64402	D	0.000001	D	0.91576	0.7339	M	0.83774	2.66	0.80722	D	1	P;P;P;P;D	0.56521	0.882;0.857;0.882;0.857;0.976	B;B;B;B;B	0.43508	0.418;0.294;0.418;0.294;0.422	D	0.91139	0.4944	10	0.52906	T	0.07	.	11.5417	0.50669	0.0:0.0:0.4576:0.5424	.	156;156;156;156;100	B4DPI0;A0PJK1-2;A0PJK1;A0PJK1-4;A0PJK1-3	.;.;SC5AA_HUMAN;.;.	T	100;156;100;156;156;156	ENSP00000324346:A100T;ENSP00000379008:A156T;ENSP00000379004:A100T;ENSP00000401875:A156T;ENSP00000379007:A156T;ENSP00000379005:A156T	ENSP00000324346:A100T	A	+	1	0	SLC5A10	18813102	1.000000	0.71417	0.443000	0.26883	0.157000	0.22087	5.242000	0.65389	1.150000	0.42419	0.462000	0.41574	GCG		0.612	SLC5A10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132129.2	NM_152351		9	67	0	0	0	0.335167	0	9	67					A	18872377	G	A	18872377	3	1	35	1	0	0	0	0	1	0	0	0	14662	1087	38	1	488	1	SLC5A10	17	18872377	Missense_Mutation	SNP	G	TCGA-CH-5769-01A-11D-1576-08	828479	18872377	62322833	155	1892											
MYO1D	4642	broad.mit.edu	37	chr17	31087406	31087406	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tttctcattgcagtaattgaTacagaattgttcaaaactac	14	15	5	7	0	2	2	2	1	1	1	3	2	2	2	0	0	4	3	0	0	6	8			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr17:31087406T>C	ENST00000318217.5	-	10	1502	c.1198A>G	c.(1198-1200)Atc>Gtc	p.I400V	MYO1D_ENST00000584232.1_5'UTR|MYO1D_ENST00000583621.1_Missense_Mutation_p.I400V|MYO1D_ENST00000579584.1_Missense_Mutation_p.I400V|MYO1D_ENST00000394649.4_Missense_Mutation_p.I312V	NM_015194.1	NP_056009.1	O94832	MYO1D_HUMAN	myosin ID	400	Myosin motor.				early endosome to recycling endosome transport (GO:0061502)|negative regulation of phosphatase activity (GO:0010923)	axolemma (GO:0030673)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|smooth endoplasmic reticulum (GO:0005790)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(14)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39			BRCA - Breast invasive adenocarcinoma(9;0.0362)			CAGTAATTGATACAGAATTGT	0.368																																						ENST00000318217.5																			0				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(14)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						c.(1198-1200)Atc>Gtc		myosin ID							131	128	129					17																	31087406		2203	4300	6503	SO:0001583	missense	4642					myosin complex	actin binding|ATP binding|calmodulin binding	g.chr17:31087406T>C	AB018270	CCDS32615.1	17q11-q12	2014-06-12				ENSG00000176658		"Myosins / Myosin superfamily : Class I"	7598	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 108"	606539				8884266	Standard	NM_015194		Approved	KIAA0727, myr4, PPP1R108	uc002hho.1	O94832		ENST00000318217.5:c.1198A>G	17.37:g.31087406T>C	ENSP00000324527:p.Ile400Val					MYO1D_ENST00000583621.1_Missense_Mutation_p.I400V|MYO1D_ENST00000579584.1_Missense_Mutation_p.I400V|MYO1D_ENST00000394649.4_Missense_Mutation_p.I312V|MYO1D_ENST00000584232.1_5'UTR	p.I400V	NM_015194.1	NP_056009.1	O94832	MYO1D_HUMAN	BRCA - Breast invasive adenocarcinoma(9;0.0362)		10	1502	-			400			Myosin head-like.		A6H8V3|Q8NHP9	Missense_Mutation	SNP	ENST00000318217.5	37	c.1198A>G	CCDS32615.1	.	.	.	.	.	.	.	.	.	.	T	21.8	4.199046	0.79015	.	.	ENSG00000176658	ENST00000318217	D	0.90788	-2.73	5.46	5.46	0.80206	Myosin head, motor domain (3);	0.000000	0.39909	U	0.001239	D	0.96999	0.9020	H	0.99851	4.845	0.58432	D	0.999996	P;P	0.40834	0.73;0.73	P;P	0.51415	0.669;0.669	D	0.97965	1.0340	10	0.87932	D	0	.	13.7799	0.63077	0.0:0.0:0.0:1.0	.	311;400	Q7Z3N6;O94832	.;MYO1D_HUMAN	V	400	ENSP00000324527:I400V	ENSP00000324527:I400V	I	-	1	0	MYO1D	28111519	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	8.040000	0.89188	2.206000	0.71126	0.533000	0.62120	ATC		0.368	MYO1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447457.1			7	150	0	0	0	0.248553	0	7	150					C	31087406	T	C	31087406	3	2	35	1	0	0	0	0	1	0	0	0	10071	1406	49	4	1874	4	MYO1D	17	31087406	Missense_Mutation	SNP	T	TCGA-CH-5769-01A-11D-1576-08	12215029	31087406	50107804	156	1893											
GPR179	440435	broad.mit.edu	37	chr17	36486199	36486199	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aatcgccagccccaggctgcGcatggaaccctgctgaacag	10	5	11	15	2	0	1	0	1	0	0	1	2	0	2	4	2	5	3	4	2	3	0	rs369300497	byFrequency	TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr17:36486199G>A	ENST00000342292.4	-	11	3273	c.3253C>T	c.(3253-3255)Cgc>Tgc	p.R1085C	GPR179_ENST00000584976.1_5'Flank	NM_001004334.2	NP_001004334.2	Q6PRD1	GP179_HUMAN	G protein-coupled receptor 179	1085					visual perception (GO:0007601)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.R1085C(1)		breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				CCCAGGCTGCGCATGGAACCC	0.582													G|||	2	0.000399361	0	0.0029	5008	,	,		19609	0		0	False		,,,				2504	0					ENST00000342292.4																			1	Substitution - Missense(1)	p.R1085C(1)	prostate(1)	breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60						c.(3253-3255)Cgc>Tgc		G protein-coupled receptor 179		G	CYS/ARG	0,4032		0,0,2016	61	66	64		3253	2.1	1	17		64	1,8349		0,1,4174	no	missense	GPR179	NM_001004334.2	180	0,1,6190	AA,AG,GG		0.012,0.0,0.0081	probably-damaging	1085/2368	36486199	1,12381	2016	4175	6191	SO:0001583	missense	440435					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr17:36486199G>A		CCDS42308.1	17q21.1	2014-05-06	2006-02-16	2006-02-16	ENSG00000188888	ENSG00000277399		"GPCR / Class C : Orphans"	31371	protein-coding gene	gene with protein product		614515	"GPR158-like 1", "GPR179"	GPR158L1			Standard	NM_001004334		Approved	CSNB1E	uc002hpz.3	Q6PRD1	OTTHUMG00000188545	ENST00000342292.4:c.3253C>T	17.37:g.36486199G>A	ENSP00000345060:p.Arg1085Cys						p.R1085C	NM_001004334.2	NP_001004334.2	Q6PRD1	GP179_HUMAN			11	3273	-	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)	1085						Missense_Mutation	SNP	ENST00000342292.4	37	c.3253C>T	CCDS42308.1	.	.	.	.	.	.	.	.	.	.	G	14.19	2.461938	0.43736	0.0	1.2E-4	ENSG00000188888	ENST00000342292	T	0.60424	0.19	5.38	2.11	0.27256	.	0.388792	0.21526	N	0.073129	T	0.38401	0.1039	L	0.27053	0.805	0.25072	N	0.990985	B	0.17465	0.022	B	0.08055	0.003	T	0.31668	-0.9935	10	0.87932	D	0	-4.4701	4.6343	0.12516	0.1781:0.0:0.5663:0.2556	.	1085	Q6PRD1	GP179_HUMAN	C	1085	ENSP00000345060:R1085C	ENSP00000345060:R1085C	R	-	1	0	GPR179	33739725	0.000000	0.05858	0.996000	0.52242	0.895000	0.52256	0.139000	0.16036	0.806000	0.34183	-0.355000	0.07637	CGC		0.582	GPR179-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255329.2			4	88	0	0	0	0.150653	0	4	88					A	36486199	G	A	36486199	3	1	35	1	0	0	0	0	1	0	0	0	6674	1087	38	1	3854	1	GPR179	17	36486199	Missense_Mutation	SNP	G	TCGA-CH-5769-01A-11D-1576-08	5398793	36486199	44709011	157	1894											
PTRF	284119	broad.mit.edu	37	chr17	40557266	40557266	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctcaacctccaccgcctcGtccgacgaaagctccagcgc	8	6	7	20	5	1	0	1	0	0	0	6	2	5	0	7	0	3	1	7	0	2	0	rs137932986		TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr17:40557266G>A	ENST00000357037.5	-	2	1031	c.612C>T	c.(610-612)gaC>gaT	p.D204D		NM_012232.5	NP_036364.2			polymerase I and transcript release factor									p.D204D(1)		breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|urinary_tract(1)	17		all_cancers(22;0.00146)|Breast(137;0.00116)|all_epithelial(22;0.0134)		BRCA - Breast invasive adenocarcinoma(366;0.193)		CCACCGCCTCGTCCGACGAAA	0.672																																						ENST00000357037.5																			1	Substitution - coding silent(1)	p.D204D(1)	prostate(1)	breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|urinary_tract(1)	17						c.(610-612)gaC>gaT		polymerase I and transcript release factor							83	89	87					17																	40557266		2203	4300	6503	SO:0001819	synonymous_variant	284119				regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription|transcription initiation from RNA polymerase I promoter	caveola|cytosol|endoplasmic reticulum|microsome|mitochondrion|nucleoplasm	protein binding|rRNA primary transcript binding	g.chr17:40557266G>A	AF000421	CCDS11425.1	17q21.31	2011-04-20				ENSG00000177469			9688	protein-coding gene	gene with protein product		603198				9582279	Standard	NM_012232		Approved	cavin-1, CAVIN1	uc002hzo.3	Q6NZI2		ENST00000357037.5:c.612C>T	17.37:g.40557266G>A							p.D204D	NM_012232.5	NP_036364.2	Q6NZI2	PTRF_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.193)	2	1031	-		all_cancers(22;0.00146)|Breast(137;0.00116)|all_epithelial(22;0.0134)	204						Silent	SNP	ENST00000357037.5	37	c.612C>T	CCDS11425.1																																																																																				0.672	PTRF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449938.1	NM_012232		10	259	0	0	0	0.500413	0	10	259					A	40557266	G	A	40557266	2	1	35	1	0	0	0	0	0	0	0	1	12815	1136	40	1		1	PTRF	17	40557266	Silent	SNP	G	TCGA-CH-5769-01A-11D-1576-08	4071067	40557266	40637944	158	1895											
TUBG2	27175	broad.mit.edu	37	chr17	40811928	40811928	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atcgtggaggaattcgccacCgagggcactgaccgcaagga	11	5	14	11	4	0	1	0	1	0	0	2	5	0	4	3	4	0	2	3	4	2	1			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr17:40811928C>T	ENST00000251412.7	+	2	325	c.126C>T	c.(124-126)acC>acT	p.T42T		NM_016437.2	NP_057521.1	Q9NRH3	TBG2_HUMAN	tubulin, gamma 2	42					cytoplasmic microtubule organization (GO:0031122)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)	cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|gamma-tubulin complex (GO:0000930)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|pericentriolar material (GO:0000242)|spindle microtubule (GO:0005876)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)	15		Breast(137;0.00116)		BRCA - Breast invasive adenocarcinoma(366;0.141)		AATTCGCCACCGAGGGCACTG	0.667																																						ENST00000251412.7																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)	15						c.(124-126)acC>acT		tubulin, gamma 2							44	57	52					17																	40811928		2199	4289	6488	SO:0001819	synonymous_variant	27175				G2/M transition of mitotic cell cycle|microtubule-based process|protein polymerization	cytosol	GTP binding|GTPase activity|structural molecule activity	g.chr17:40811928C>T	AF225971	CCDS32658.1	17q21.2	2014-09-04			ENSG00000037042	ENSG00000037042		"Tubulins"	12419	protein-coding gene	gene with protein product		605785					Standard	NM_016437		Approved		uc010wgr.2	Q9NRH3	OTTHUMG00000180640	ENST00000251412.7:c.126C>T	17.37:g.40811928C>T							p.T42T	NM_016437.2	NP_057521.1	Q9NRH3	TBG2_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.141)	2	325	+		Breast(137;0.00116)	42					A6NDI4|Q32NB2	Silent	SNP	ENST00000251412.7	37	c.126C>T	CCDS32658.1																																																																																				0.667	TUBG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452326.1	NM_016437		11	170	0	0	0	0.38729	0	11	170					T	40811928	C	T	40811928	2	4	35	1	0	0	0	0	0	0	0	1	16762	639	23	2		2	TUBG2	17	40811928	Silent	SNP	C	TCGA-CH-5769-01A-11D-1576-08	254662	40811928	40383282	159	1896											
TUBG2	27175	broad.mit.edu	37	chr17	40818429	40818429	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	catccaggtggccctgtcgaGgaagtctccctacctgccct	6	9	10	16	1	1	0	0	0	1	0	4	2	2	1	5	3	2	0	5	3	2	1			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr17:40818429G>T	ENST00000251412.7	+	10	1284	c.1085G>T	c.(1084-1086)aGg>aTg	p.R362M	PLEKHH3_ENST00000456950.2_5'Flank	NM_016437.2	NP_057521.1	Q9NRH3	TBG2_HUMAN	tubulin, gamma 2	362					cytoplasmic microtubule organization (GO:0031122)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)	cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|gamma-tubulin complex (GO:0000930)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|pericentriolar material (GO:0000242)|spindle microtubule (GO:0005876)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)	15		Breast(137;0.00116)		BRCA - Breast invasive adenocarcinoma(366;0.141)		GCCCTGTCGAGGAAGTCTCCC	0.622																																						ENST00000251412.7																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)	15						c.(1084-1086)aGg>aTg		tubulin, gamma 2							64	68	67					17																	40818429		2203	4297	6500	SO:0001583	missense	27175				G2/M transition of mitotic cell cycle|microtubule-based process|protein polymerization	cytosol	GTP binding|GTPase activity|structural molecule activity	g.chr17:40818429G>T	AF225971	CCDS32658.1	17q21.2	2014-09-04			ENSG00000037042	ENSG00000037042		"Tubulins"	12419	protein-coding gene	gene with protein product		605785					Standard	NM_016437		Approved		uc010wgr.2	Q9NRH3	OTTHUMG00000180640	ENST00000251412.7:c.1085G>T	17.37:g.40818429G>T	ENSP00000251412:p.Arg362Met						p.R362M	NM_016437.2	NP_057521.1	Q9NRH3	TBG2_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.141)	10	1284	+		Breast(137;0.00116)	362					A6NDI4|Q32NB2	Missense_Mutation	SNP	ENST00000251412.7	37	c.1085G>T	CCDS32658.1	.	.	.	.	.	.	.	.	.	.	G	17.99	3.522900	0.64747	.	.	ENSG00000037042	ENST00000251412	D	0.84516	-1.86	5.85	4.86	0.63082	Tubulin/FtsZ, 2-layer sandwich domain (3);Tubulin/FtsZ, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.89825	0.6827	M	0.89414	3.03	0.80722	D	1	P	0.50710	0.938	P	0.48571	0.582	D	0.91468	0.5194	10	0.87932	D	0	-28.7231	14.109	0.65111	0.0746:0.0:0.9254:0.0	.	362	Q9NRH3	TBG2_HUMAN	M	362	ENSP00000251412:R362M	ENSP00000251412:R362M	R	+	2	0	TUBG2	38071955	1.000000	0.71417	0.929000	0.37066	0.127000	0.20565	9.696000	0.98695	1.412000	0.46977	0.655000	0.94253	AGG		0.622	TUBG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452326.1	NM_016437		4	155	1	0	0.014758	0.184627	0.015272	4	155					T	40818429	G	T	40818429	3	4	35	1	0	0	0	0	1	0	0	0	16762	1000	35	5	1123	5	TUBG2	17	40818429	Missense_Mutation	SNP	G	TCGA-CH-5769-01A-11D-1576-08	6501	40818429	40376781	160	1897											
MPP3	4356	broad.mit.edu	37	chr17	41891642	41891642	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cttcgtaagtcagcagctccGgagactcagctccggaggac	9	7	12	13	3	2	1	2	0	0	1	5	4	4	3	2	3	3	4	2	3	1	2	rs374905234		TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr17:41891642G>A	ENST00000398389.4	-	15	1262	c.1097C>T	c.(1096-1098)cCg>cTg	p.P366L	MPP3_ENST00000475450.1_5'UTR|MPP3_ENST00000398393.1_Missense_Mutation_p.P391L	NM_001932.4	NP_001923.2	Q13368	MPP3_HUMAN	membrane protein, palmitoylated 3 (MAGUK p55 subfamily member 3)	366					nucleotide phosphorylation (GO:0046939)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)	guanylate kinase activity (GO:0004385)	p.P366L(1)		endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	26		Breast(137;0.00394)		BRCA - Breast invasive adenocarcinoma(366;0.119)		CAGCAGCTCCGGAGACTCAGC	0.632																																						ENST00000398393.1																			1	Substitution - Missense(1)	p.P366L(1)	prostate(1)	endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	26						c.(1171-1173)cCg>cTg		membrane protein, palmitoylated 3 (MAGUK p55 subfamily member 3)		G	LEU/PRO	1,3839		0,1,1919	89	100	97		1097	2.7	0.1	17		97	0,8260		0,0,4130	no	missense	MPP3	NM_001932.4	98	0,1,6049	AA,AG,GG		0.0,0.026,0.0083	benign	366/586	41891642	1,12099	1920	4130	6050	SO:0001583	missense	4356				signal transduction	cell surface|integral to plasma membrane	guanylate kinase activity	g.chr17:41891642G>A		CCDS42344.1	17q12-q21	2008-07-18			ENSG00000161647	ENSG00000161647			7221	protein-coding gene	gene with protein product	"MAGUK p55 subfamily member 3", "discs, large (Drosophila) homolog 3", "membrane protein palmitoylated 3"	601114		DLG3		8824795	Standard	NR_003562		Approved		uc002iei.4	Q13368	OTTHUMG00000133838	ENST00000398389.4:c.1097C>T	17.37:g.41891642G>A	ENSP00000381425:p.Pro366Leu					MPP3_ENST00000398389.4_Missense_Mutation_p.P366L|MPP3_ENST00000475450.1_5'UTR	p.P391L			Q13368	MPP3_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.119)	13	1432	-		Breast(137;0.00394)	366			Guanylate kinase-like.		B2R7N0|D3DX47|Q4GX05|Q6PGR3|Q86SV1	Missense_Mutation	SNP	ENST00000398389.4	37	c.1172C>T	CCDS42344.1	.	.	.	.	.	.	.	.	.	.	G	8.745	0.919994	0.17982	2.6E-4	0.0	ENSG00000161647	ENST00000398393;ENST00000398389	T;T	0.14893	2.47;2.47	5.83	2.73	0.32206	.	0.315399	0.35555	N	0.003122	T	0.06781	0.0173	N	0.08118	0	0.09310	N	0.999995	B;B	0.06786	0.0;0.001	B;B	0.04013	0.001;0.001	T	0.41251	-0.9519	10	0.11182	T	0.66	.	6.8909	0.24228	0.1448:0.0:0.71:0.1452	.	366;391	Q13368;D3DX46	MPP3_HUMAN;.	L	391;366	ENSP00000381430:P391L;ENSP00000381425:P366L	ENSP00000381425:P366L	P	-	2	0	MPP3	39247168	0.005000	0.15991	0.057000	0.19452	0.024000	0.10985	1.080000	0.30779	0.349000	0.23975	0.650000	0.86243	CCG		0.632	MPP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258371.1	NM_001932		13	279	0	0	0	0.411799	0	13	279					A	41891642	G	A	41891642	3	1	35	1	0	0	0	0	1	0	0	0	9735	1116	39	2	684	2	MPP3	17	41891642	Missense_Mutation	SNP	G	TCGA-CH-5769-01A-11D-1576-08	1073213	41891642	39303568	161	1898											
FZD2	2535	broad.mit.edu	37	chr17	42636103	42636103	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atctggtgggtcatcctgtcGctcacctggttcctggcagc	4	12	12	13	1	3	0	2	0	1	0	6	0	5	0	3	4	1	3	3	4	0	1			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr17:42636103G>A	ENST00000315323.3	+	1	1179	c.1047G>A	c.(1045-1047)tcG>tcA	p.S349S		NM_001466.3	NP_001457.1	Q14332	FZD2_HUMAN	frizzled class receptor 2	349					axonogenesis (GO:0007409)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|cell-cell signaling (GO:0007267)|cochlea morphogenesis (GO:0090103)|epithelial cell differentiation (GO:0030855)|G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:0007199)|gonad development (GO:0008406)|hard palate development (GO:0060022)|inner ear receptor cell development (GO:0060119)|membranous septum morphogenesis (GO:0003149)|muscular septum morphogenesis (GO:0003150)|neuron differentiation (GO:0030182)|outflow tract morphogenesis (GO:0003151)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of cGMP metabolic process (GO:0030825)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription, DNA-templated (GO:0045893)|sensory perception of smell (GO:0007608)|vasculature development (GO:0001944)|Wnt signaling pathway, calcium modulating pathway (GO:0007223)	apical part of cell (GO:0045177)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|neuron projection membrane (GO:0032589)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)	p.S349S(1)		central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(8)	33		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.189)		TCATCCTGTCGCTCACCTGGT	0.632																																						ENST00000315323.3																			1	Substitution - coding silent(1)	p.S349S(1)	prostate(1)	central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(8)	33						c.(1045-1047)tcG>tcA		frizzled family receptor 2							88	82	84					17																	42636103		2203	4300	6503	SO:0001819	synonymous_variant	2535				axonogenesis|brain development|canonical Wnt receptor signaling pathway|epithelial cell differentiation|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|positive regulation of cGMP metabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway	apical part of cell|cytoplasm|integral to membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding	g.chr17:42636103G>A	L37882	CCDS11484.1	17q21.1	2014-01-29	2014-01-29			ENSG00000180340		"GPCR / Class F : Frizzled receptors"	4040	protein-coding gene	gene with protein product		600667	"frizzled (Drosophila) homolog 2", "frizzled homolog 2 (Drosophila)", "frizzled 2, seven transmembrane spanning receptor", "frizzled family receptor 2"			7558010, 9813155	Standard	NM_001466		Approved		uc002igx.2	Q14332		ENST00000315323.3:c.1047G>A	17.37:g.42636103G>A							p.S349S	NM_001466.3	NP_001457.1	Q14332	FZD2_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.189)	1	1179	+		Prostate(33;0.0181)	349					Q0VG82	Silent	SNP	ENST00000315323.3	37	c.1047G>A	CCDS11484.1																																																																																				0.632	FZD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457806.1	NM_001466		8	100	0	0	0	0.307466	0	8	100					A	42636103	G	A	42636103	2	1	35	1	0	0	0	0	0	0	0	1	6130	1074	38	1		1	FZD2	17	42636103	Silent	SNP	G	TCGA-CH-5769-01A-11D-1576-08	744461	42636103	38559107	162	1899											
ADAM11	4185	broad.mit.edu	37	chr17	42855196	42855196	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcaacttcagcacctgccccGgcagtggggagcgccggatt	7	7	13	14	3	2	0	2	0	0	0	2	2	2	2	4	4	4	2	4	4	1	2			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr17:42855196G>A	ENST00000200557.6	+	23	2204	c.2035G>A	c.(2035-2037)Ggc>Agc	p.G679S	ADAM11_ENST00000535346.1_Missense_Mutation_p.G479S	NM_002390.4	NP_002381.2	O75078	ADA11_HUMAN	ADAM metallopeptidase domain 11	679	EGF-like. {ECO:0000255|PROSITE- ProRule:PRU00076}.				integrin-mediated signaling pathway (GO:0007229)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.G679S(2)		breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(15)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33		Prostate(33;0.0959)				CACCTGCCCCGGCAGTGGGGA	0.642																																						ENST00000200557.6																			2	Substitution - Missense(2)	p.G679S(2)	prostate(2)	breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(15)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						c.(2035-2037)Ggc>Agc		ADAM metallopeptidase domain 11							34	34	34					17																	42855196		2203	4300	6503	SO:0001583	missense	4185				integrin-mediated signaling pathway|proteolysis	integral to membrane|plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding	g.chr17:42855196G>A	D17390	CCDS11486.1	17q21.3	2014-08-12	2005-08-18		ENSG00000073670			"ADAM metallopeptidase domain containing"	189	protein-coding gene	gene with protein product	"metalloproteinase-like, disintegrin-like, cysteine-rich protein"	155120	"a disintegrin and metalloproteinase domain 11"	MDC		8252040	Standard	XM_005257373		Approved		uc002ihh.3	O75078	OTTHUMG00000179038	ENST00000200557.6:c.2035G>A	17.37:g.42855196G>A	ENSP00000200557:p.Gly679Ser					ADAM11_ENST00000535346.1_Missense_Mutation_p.G479S	p.G679S	NM_002390.4	NP_002381.2	O75078	ADA11_HUMAN			23	2204	+		Prostate(33;0.0959)	679			EGF-like.		Q14808|Q14809|Q14810	Missense_Mutation	SNP	ENST00000200557.6	37	c.2035G>A	CCDS11486.1	.	.	.	.	.	.	.	.	.	.	G	6.353	0.433165	0.12045	.	.	ENSG00000073670	ENST00000200557;ENST00000535346	T;T	0.28454	4.54;1.61	4.36	3.38	0.38709	Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	D	0.000000	T	0.31979	0.0814	L	0.37897	1.145	0.58432	D	0.999997	P;D	0.76494	0.472;0.999	B;P	0.54856	0.065;0.762	T	0.04281	-1.0963	10	0.08837	T	0.75	.	12.722	0.57147	0.0:0.0:0.8344:0.1656	.	479;679	B4DKD2;O75078	.;ADA11_HUMAN	S	679;479	ENSP00000200557:G679S;ENSP00000443773:G479S	ENSP00000200557:G679S	G	+	1	0	ADAM11	40210722	1.000000	0.71417	0.755000	0.31263	0.927000	0.56198	6.086000	0.71352	1.039000	0.40074	0.561000	0.74099	GGC		0.642	ADAM11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444531.1	NM_002390		7	75	0	0	0	0.248553	0	7	75					A	42855196	G	A	42855196	3	1	35	1	0	0	0	0	1	0	0	0	235	1116	39	2	2125	2	ADAM11	17	42855196	Missense_Mutation	SNP	G	TCGA-CH-5769-01A-11D-1576-08	219093	42855196	38340014	163	1900											
MSI2	124540	broad.mit.edu	37	chr17	55339544	55339544	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gttgcatttcctcgtcgagcGcaacccaaggtaagtaggag	10	9	12	10	3	0	0	0	0	0	0	3	2	1	1	2	2	3	5	2	2	4	4	rs574167789		TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr17:55339544G>A	ENST00000284073.2	+	5	512	c.303G>A	c.(301-303)gcG>gcA	p.A101A	MSI2_ENST00000416426.2_Silent_p.A79A|MSI2_ENST00000322684.3_Silent_p.A97A	NM_138962.2	NP_620412.1	Q96DH6	MSI2H_HUMAN	musashi RNA-binding protein 2	101	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.					cytoplasm (GO:0005737)|polysome (GO:0005844)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|poly(U) RNA binding (GO:0008266)	p.A101A(1)		central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(1)|pancreas(1)|skin(1)	7	Breast(9;1.78e-08)			GBM - Glioblastoma multiforme(1;0.0025)		CTCGTCGAGCGCAACCCAAGG	0.368			T	HOXA9	CML								G|||	1	0.000199681	0	0.0014	5008	,	,		20949	0		0	False		,,,				2504	0					ENST00000284073.2				Dom	yes		17	17q23.2	124540	T	musashi homolog 2 (Drosophila)			L	HOXA9		CML		1	Substitution - coding silent(1)	p.A101A(1)	prostate(1)	central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(1)|pancreas(1)|skin(1)	7						c.(301-303)gcG>gcA		musashi RNA-binding protein 2							103	96	99					17																	55339544		2203	4300	6503	SO:0001819	synonymous_variant	0					cytoplasm	nucleotide binding|RNA binding	g.chr17:55339544G>A	BC001526	CCDS11596.1, CCDS11597.1	17q23.2	2013-07-16	2012-12-13					"RNA binding motif (RRM) containing"	18585	protein-coding gene	gene with protein product		607897	"musashi homolog 2 (Drosophila)"			11588182	Standard	NM_138962		Approved		uc002iuz.1	Q96DH6		ENST00000284073.2:c.303G>A	17.37:g.55339544G>A						MSI2_ENST00000416426.2_Silent_p.A79A|MSI2_ENST00000322684.3_Silent_p.A97A	p.A101A	NM_138962.2	NP_620412.1	Q96DH6	MSI2H_HUMAN		GBM - Glioblastoma multiforme(1;0.0025)	5	512	+	Breast(9;1.78e-08)		101			RRM 1.		Q7Z6M7|Q8N9T4	Silent	SNP	ENST00000284073.2	37	c.303G>A	CCDS11596.1																																																																																				0.368	MSI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441813.1			12	148	0	0	0	0.435327	0	12	148					A	55339544	G	A	55339544	2	1	35	1	0	0	0	0	0	0	0	1	9876	1074	38	1		1	MSI2	17	55339544	Silent	SNP	G	TCGA-CH-5769-01A-11D-1576-08	12484348	55339544	25855666	164	1901											
HEATR6	63897	broad.mit.edu	37	chr17	58121389	58121389	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgtactgctctctcttcccCgggacggaaagggcagctgc	6	8	12	15	3	2	0	0	0	2	0	4	2	3	2	3	3	4	4	3	3	2	2			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr17:58121389C>T	ENST00000184956.6	-	20	3097	c.3081G>A	c.(3079-3081)ccG>ccA	p.P1027P	AC005702.3_ENST00000582298.1_RNA|AC005702.4_ENST00000583144.1_RNA|AC005702.1_ENST00000581326.1_RNA|MIR4737_ENST00000583979.1_RNA|AC005702.2_ENST00000577558.1_RNA|HEATR6_ENST00000585976.1_Silent_p.P915P	NM_022070.4	NP_071353.4	Q6AI08	HEAT6_HUMAN	HEAT repeat containing 6	1027							poly(A) RNA binding (GO:0044822)			NS(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	44	all_cancers(5;2.25e-13)|Breast(5;4.84e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		BRCA - Breast invasive adenocarcinoma(1;5.93e-19)|Epithelial(12;7.59e-12)|all cancers(12;1.26e-10)			CTCTCTTCCCCGGGACGGAAA	0.532																																						ENST00000184956.6																			0				NS(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	44						c.(3079-3081)ccG>ccA		HEAT repeat containing 6							116	114	114					17																	58121389		2203	4300	6503	SO:0001819	synonymous_variant	63897						binding	g.chr17:58121389C>T	BX640819	CCDS11623.1	17q23.2	2007-05-01				ENSG00000068097			24076	protein-coding gene	gene with protein product	"amplified in breast cancer 1"					12755490	Standard	NM_022070		Approved	ABC1, FLJ22087	uc002iyk.1	Q6AI08		ENST00000184956.6:c.3081G>A	17.37:g.58121389C>T						HEATR6_ENST00000585976.1_Silent_p.P915P	p.P1027P	NM_022070.4	NP_071353.4	Q6AI08	HEAT6_HUMAN	BRCA - Breast invasive adenocarcinoma(1;5.93e-19)|Epithelial(12;7.59e-12)|all cancers(12;1.26e-10)		20	3097	-	all_cancers(5;2.25e-13)|Breast(5;4.84e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		1027					B3KXP3|Q6MZX1|Q6MZY2|Q8TDM9|Q9H6B3|Q9H6M7	Silent	SNP	ENST00000184956.6	37	c.3081G>A	CCDS11623.1																																																																																				0.532	HEATR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449165.1	NM_022070		9	201	0	0	0	0.335167	0	9	201					T	58121389	C	T	58121389	2	4	35	1	0	0	0	0	0	0	0	1	7033	639	23	2		2	HEATR6	17	58121389	Silent	SNP	C	TCGA-CH-5769-01A-11D-1576-08	2781845	58121389	23073821	165	1902											
CACNG4	27092	broad.mit.edu	37	chr17	65026808	65026808	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaacgggaattccttaaggcGtcttcctcttctccttatgc	8	14	7	12	2	3	0	0	0	3	0	6	1	5	1	3	2	2	0	3	2	4	5	rs377684890		TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr17:65026808G>A	ENST00000262138.3	+	4	674	c.672G>A	c.(670-672)gcG>gcA	p.A224A	AC005544.1_ENST00000375684.1_5'Flank|RP11-74H8.1_ENST00000579138.1_RNA	NM_014405.3	NP_055220.1	Q9UBN1	CCG4_HUMAN	calcium channel, voltage-dependent, gamma subunit 4	224					membrane depolarization (GO:0051899)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|synaptic transmission (GO:0007268)|transmission of nerve impulse (GO:0019226)|transport (GO:0006810)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|endocytic vesicle membrane (GO:0030666)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)	p.A224A(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(3)	19	all_cancers(12;9.86e-11)		BRCA - Breast invasive adenocarcinoma(6;1.35e-07)			TCCTTAAGGCGTCTTCCTCTT	0.542																																						ENST00000262138.3																			1	Substitution - coding silent(1)	p.A224A(1)	prostate(1)	central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(3)	19						c.(670-672)gcG>gcA		calcium channel, voltage-dependent, gamma subunit 4		G		0,4406		0,0,2203	81	84	83		672	-9.7	0.2	17		83	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	CACNG4	NM_014405.3		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		224/328	65026808	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	27092				membrane depolarization|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane	voltage-gated calcium channel activity	g.chr17:65026808G>A	AH008289	CCDS11667.1	17q24	2006-01-23				ENSG00000075461		"Calcium channel subunits"	1408	protein-coding gene	gene with protein product		606404				10613843	Standard	NM_014405		Approved	MGC11138, MGC24983	uc002jft.2	Q9UBN1		ENST00000262138.3:c.672G>A	17.37:g.65026808G>A							p.A224A	NM_014405.3	NP_055220.1	Q9UBN1	CCG4_HUMAN	BRCA - Breast invasive adenocarcinoma(6;1.35e-07)		4	674	+	all_cancers(12;9.86e-11)		224					B2RCK0	Silent	SNP	ENST00000262138.3	37	c.672G>A	CCDS11667.1																																																																																				0.542	CACNG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447036.1	NM_014405		30	134	0	0	0	0.750413	0	30	134					A	65026808	G	A	65026808	2	1	35	1	0	0	0	0	0	0	0	1	2559	1132	40	1		1	CACNG4	17	65026808	Silent	SNP	G	TCGA-CH-5769-01A-11D-1576-08	6905419	65026808	16168402	166	1903											
EVPL	2125	broad.mit.edu	37	chr17	74005213	74005213	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctcctctccagcagcaggCgcttgctctgcagctcgtac	5	10	9	17	2	2	0	0	0	2	0	6	0	4	0	3	1	6	7	3	1	1	2			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr17:74005213C>T	ENST00000301607.3	-	22	4326	c.4073G>A	c.(4072-4074)cGc>cAc	p.R1358H	EVPL_ENST00000586740.1_Missense_Mutation_p.R1380H	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN	envoplakin	1358	Central fibrous rod domain.				epidermis development (GO:0008544)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)	cell junction (GO:0030054)|cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	protein binding, bridging (GO:0030674)|structural molecule activity (GO:0005198)			breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						CAGCAGCAGGCGCTTGCTCTG	0.687																																						ENST00000301607.3																			0				breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						c.(4072-4074)cGc>cAc		envoplakin							60	62	61					17																	74005213		2198	4295	6493	SO:0001583	missense	2125				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity	g.chr17:74005213C>T	U53786	CCDS11737.1	17q25	2008-07-18				ENSG00000167880			3503	protein-coding gene	gene with protein product		601590				8938451, 10409435	Standard	NM_001988		Approved	EVPK	uc002jqi.2	Q92817		ENST00000301607.3:c.4073G>A	17.37:g.74005213C>T	ENSP00000301607:p.Arg1358His					EVPL_ENST00000586740.1_Missense_Mutation_p.R1380H	p.R1358H	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN			22	4326	-			1358			Central fibrous rod domain.		A0AUV5	Missense_Mutation	SNP	ENST00000301607.3	37	c.4073G>A	CCDS11737.1	.	.	.	.	.	.	.	.	.	.	C	4.729	0.135530	0.09032	.	.	ENSG00000167880	ENST00000301607	T	0.42900	0.96	5.55	-2.01	0.07410	.	1.002690	0.08030	N	0.993396	T	0.25644	0.0624	L	0.39245	1.2	0.20307	N	0.999911	B;B	0.31599	0.33;0.132	B;B	0.19666	0.026;0.011	T	0.17107	-1.0380	10	0.19147	T	0.46	-8.4803	6.0123	0.19582	0.4931:0.0777:0.0:0.4292	.	1380;1358	B7ZLH8;Q92817	.;EVPL_HUMAN	H	1358	ENSP00000301607:R1358H	ENSP00000301607:R1358H	R	-	2	0	EVPL	71516808	0.990000	0.36364	0.618000	0.29105	0.002000	0.02628	0.172000	0.16704	-0.307000	0.08804	-0.345000	0.07892	CGC		0.687	EVPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449483.1	NM_001988		5	187	0	0	0	0.184627	0	5	187					T	74005213	C	T	74005213	3	4	35	1	0	0	0	0	1	0	0	0	5292	768	27	1	2032	1	EVPL	17	74005213	Missense_Mutation	SNP	C	TCGA-CH-5769-01A-11D-1576-08	8978405	74005213	7189997	167	1904											
SEPT9	10801	broad.mit.edu	37	chr17	75398336	75398336	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctcccccaaggcgtccctgcGgagggtggagctctcgggcc	4	6	15	16	3	1	0	0	0	1	0	4	2	3	2	4	5	2	1	4	5	1	0			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr17:75398336G>A	ENST00000427177.1	+	3	398	c.272G>A	c.(271-273)cGg>cAg	p.R91Q	SEPT9_ENST00000592420.1_5'UTR|SEPT9_ENST00000590294.1_Missense_Mutation_p.R73Q|SEPT9_ENST00000423034.2_Missense_Mutation_p.R84Q|SEPT9_ENST00000591198.1_Missense_Mutation_p.R72Q|SEPT9_ENST00000585930.1_5'Flank|SEPT9_ENST00000588690.1_5'UTR|SEPT9_ENST00000427674.2_5'UTR|SEPT9_ENST00000449803.2_5'UTR|SEPT9_ENST00000329047.8_Missense_Mutation_p.R73Q|SEPT9_ENST00000431235.2_5'UTR	NM_001113491.1	NP_001106963.1	Q9UHD8	SEPT9_HUMAN	septin 9	91					cell cycle (GO:0007049)|cell division (GO:0051301)|GTP catabolic process (GO:0006184)|protein heterooligomerization (GO:0051291)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|perinuclear region of cytoplasm (GO:0048471)|stress fiber (GO:0001725)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)	p.R73Q(2)		autonomic_ganglia(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|prostate(2)	16			BRCA - Breast invasive adenocarcinoma(99;0.153)			GCGTCCCTGCGGAGGGTGGAG	0.667																																						ENST00000329047.8																			2	Substitution - Missense(2)	p.R73Q(2)	prostate(2)	autonomic_ganglia(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|prostate(2)	16						c.(217-219)cGg>cAg		septin 9							19	22	22					17																	75398336		1895	4107	6002	SO:0001583	missense	10801				cell cycle|cell division|protein heterooligomerization	microtubule|perinuclear region of cytoplasm|stress fiber	GTP binding|GTPase activity|protein binding	g.chr17:75398336G>A	AB023208	CCDS45790.1, CCDS45791.1, CCDS45792.1, CCDS45793.1, CCDS45794.1, CCDS45795.1, CCDS74166.1	17q25.3	2014-09-17	2005-01-11	2005-01-12	ENSG00000184640	ENSG00000184640		"Septins"	7323	protein-coding gene	gene with protein product	"Ov/Br septin"	604061	"MLL septin-like fusion"	MSF		10339604, 10485469	Standard	NM_006640		Approved	MSF1, KIAA0991, PNUTL4, AF17q25, SeptD1	uc002jts.4	Q9UHD8		ENST00000427177.1:c.272G>A	17.37:g.75398336G>A	ENSP00000391249:p.Arg91Gln					SEPT9_ENST00000588690.1_5'UTR|SEPT9_ENST00000427177.1_Missense_Mutation_p.R91Q|SEPT9_ENST00000592420.1_5'UTR|SEPT9_ENST00000431235.2_5'UTR|SEPT9_ENST00000423034.2_Missense_Mutation_p.R84Q|SEPT9_ENST00000427674.2_5'UTR|SEPT9_ENST00000591198.1_Missense_Mutation_p.R72Q|SEPT9_ENST00000449803.2_5'UTR|SEPT9_ENST00000590294.1_Missense_Mutation_p.R73Q	p.R73Q	NM_006640.4	NP_006631.2	Q9UHD8	SEPT9_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.153)		2	1030	+			91					A8K2V3|B3KPM0|B4DTL9|B4E0N2|B4E274|B7Z654|Q96QF3|Q96QF4|Q96QF5|Q9HA04|Q9UG40|Q9Y5W4	Missense_Mutation	SNP	ENST00000427177.1	37	c.218G>A	CCDS45790.1	.	.	.	.	.	.	.	.	.	.	G	36	5.650603	0.96714	.	.	ENSG00000184640	ENST00000427177;ENST00000329047;ENST00000423034	T;T;T	0.40225	1.04;1.07;1.07	5.24	5.24	0.73138	.	5.246820	0.00447	N	0.000095	T	0.63283	0.2498	L	0.32530	0.975	0.80722	D	1	D;D;D;D	0.89917	1.0;0.997;0.997;0.994	D;P;P;P	0.83275	0.996;0.8;0.8;0.636	T	0.44390	-0.9331	10	0.66056	D	0.02	.	17.8047	0.88598	0.0:0.0:1.0:0.0	.	72;84;73;91	Q9UHD8-7;Q9UHD8-5;Q9UHD8-2;Q9UHD8	.;.;.;SEPT9_HUMAN	Q	91;73;84	ENSP00000391249:R91Q;ENSP00000329161:R73Q;ENSP00000405877:R84Q	ENSP00000329161:R73Q	R	+	2	0	SEPT9	72909931	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	6.929000	0.75852	2.437000	0.82529	0.555000	0.69702	CGG		0.667	SEPT9-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000436304.2	NM_006640		10	56	0	0	0	0.335167	0	10	56					A	75398336	G	A	75398336	3	1	35	1	0	0	0	0	1	0	0	0	14071	1116	39	2	367	2	SEPT9	17	75398336	Missense_Mutation	SNP	G	TCGA-CH-5769-01A-11D-1576-08	1393123	75398336	5796874	168	1905											
LAMA1	284217	broad.mit.edu	37	chr18	7007238	7007238	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtggtcccctgtcactccctGctgggagcttccctctgtgg	2	12	12	15	0	2	0	1	0	1	0	5	1	5	1	4	3	2	2	4	3	0	1	rs138028986		TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr18:7007238G>A	ENST00000389658.3	-	29	4253	c.4160C>T	c.(4159-4161)gCa>gTa	p.A1387V		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	1387	Laminin EGF-like 14; second part. {ECO:0000255|PROSITE-ProRule:PRU00460}.				axon guidance (GO:0007411)|branching involved in salivary gland morphogenesis (GO:0060445)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment of epithelial cell apical/basal polarity (GO:0045198)|extracellular matrix organization (GO:0030198)|morphogenesis of an epithelial sheet (GO:0002011)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|laminin-1 complex (GO:0005606)|laminin-3 complex (GO:0005608)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)				GTCACTCCCTGCTGGGAGCTT	0.557																																						ENST00000389658.3																			0				NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205						c.(4159-4161)gCa>gTa		laminin, alpha 1	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	G	VAL/ALA	0,4406		0,0,2203	63	54	57		4160	3.5	0.4	18	dbSNP_134	57	1,8599	1.2+/-3.3	0,1,4299	no	missense	LAMA1	NM_005559.3	64	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	1387/3076	7007238	1,13005	2203	4300	6503	SO:0001583	missense	284217				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding	g.chr18:7007238G>A	X58531	CCDS32787.1	18p11.3	2013-03-01			ENSG00000101680	ENSG00000101680		"Laminins"	6481	protein-coding gene	gene with protein product		150320		LAMA		2591971	Standard	NM_005559		Approved		uc002knm.3	P25391	OTTHUMG00000133478	ENST00000389658.3:c.4160C>T	18.37:g.7007238G>A	ENSP00000374309:p.Ala1387Val						p.A1387V	NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN			29	4253	-		Colorectal(10;0.172)	1387			Laminin EGF-like 14; second part.			Missense_Mutation	SNP	ENST00000389658.3	37	c.4160C>T	CCDS32787.1	.	.	.	.	.	.	.	.	.	.	G	10.02	1.236146	0.22626	0.0	1.16E-4	ENSG00000101680	ENST00000389658	T	0.18016	2.24	5.83	3.47	0.39725	.	0.893846	0.09795	N	0.754866	T	0.08670	0.0215	N	0.03608	-0.345	0.23685	N	0.99711	B	0.33000	0.393	B	0.35971	0.215	T	0.40175	-0.9577	10	0.30854	T	0.27	.	7.8131	0.29243	0.0:0.0728:0.1623:0.7649	.	1387	P25391	LAMA1_HUMAN	V	1387	ENSP00000374309:A1387V	ENSP00000374309:A1387V	A	-	2	0	LAMA1	6997238	0.015000	0.18098	0.366000	0.25914	0.133000	0.20885	0.848000	0.27710	0.473000	0.27368	-0.274000	0.10170	GCA		0.557	LAMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257369.1	NM_005559		4	49	0	0	0	0.150653	0	4	49					A	7007238	G	A	7007238	3	1	35	1	0	0	0	0	1	0	0	0	8605	1319	46	3	5207	3	LAMA1	18	7007238	Missense_Mutation	SNP	G	TCGA-CH-5769-01A-11D-1576-08		7007238	71070010	169	1906											
KLHL14	57565	broad.mit.edu	37	chr18	30350295	30350295	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtgacggctgctgctgcggcGgctgctgctggtccttgggg	1	10	19	11	3	0	1	0	1	0	0	1	1	1	1	1	6	5	6	1	6	0	1			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr18:30350295G>T	ENST00000359358.4	-	2	698	c.260C>A	c.(259-261)cCg>cAg	p.P87Q	KLHL14_ENST00000358095.4_Missense_Mutation_p.P87Q|AC012123.1_ENST00000426194.1_Intron	NM_020805.1	NP_065856.1	Q9P2G3	KLH14_HUMAN	kelch-like family member 14	87	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.					endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)				breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(20)|ovary(2)	31						ctgctgcggcggctgctgctg	0.726																																						ENST00000359358.4																			0				breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(20)|ovary(2)	31						c.(259-261)cCg>cAg		kelch-like family member 14							8	12	11					18																	30350295		2011	4052	6063	SO:0001583	missense	57565					cytosol|endoplasmic reticulum membrane		g.chr18:30350295G>T	AB037805	CCDS32813.1	18q12.1	2013-10-15	2013-01-30		ENSG00000197705	ENSG00000197705		"Kelch-like", "BTB/POZ domain containing"	29266	protein-coding gene	gene with protein product	"printor"	613772	"kelch-like 14 (Drosophila)"			10718198, 19535332	Standard	NM_020805		Approved	KIAA1384	uc002kxm.1	Q9P2G3	OTTHUMG00000179819	ENST00000359358.4:c.260C>A	18.37:g.30350295G>T	ENSP00000352314:p.Pro87Gln					KLHL14_ENST00000358095.4_Missense_Mutation_p.P87Q|AC012123.1_ENST00000426194.1_Intron	p.P87Q	NM_020805.1	NP_065856.1	Q9P2G3	KLH14_HUMAN			2	698	-			87			BTB.		A6NNW1|B4DHA0|Q8WU41	Missense_Mutation	SNP	ENST00000359358.4	37	c.260C>A	CCDS32813.1	.	.	.	.	.	.	.	.	.	.	G	4.210	0.037834	0.08148	.	.	ENSG00000197705	ENST00000359358;ENST00000358095	T;T	0.76186	-0.72;-1.0	3.84	-0.421	0.12332	BTB/POZ-like (2);BTB/POZ fold (1);	0.528864	0.14262	N	0.330701	T	0.50274	0.1606	N	0.08118	0	0.30651	N	0.755429	B	0.02656	0.0	B	0.06405	0.002	T	0.39313	-0.9620	10	0.11182	T	0.66	.	13.1196	0.59318	0.0:0.0:0.638:0.362	.	87	Q9P2G3	KLH14_HUMAN	Q	87	ENSP00000352314:P87Q;ENSP00000350808:P87Q	ENSP00000350808:P87Q	P	-	2	0	KLHL14	28604293	0.278000	0.24230	0.997000	0.53966	0.830000	0.47004	-0.572000	0.05881	-0.256000	0.09473	0.460000	0.39030	CCG		0.726	KLHL14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448376.1			4	54	1	0	0.00909568	0.150653	0.00945951	4	54					T	30350295	G	T	30350295	3	4	35	1	0	0	0	0	1	0	0	0	8370	1116	39	5	1658	5	KLHL14	18	30350295	Missense_Mutation	SNP	G	TCGA-CH-5769-01A-11D-1576-08	23343057	30350295	47726953	170	1907											
KCNG2	26251	broad.mit.edu	37	chr18	77623902	77623902	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	accgcagcccgtgcgccttcCgcgccatcgtggcgcttttg	3	9	12	17	7	0	0	0	0	0	0	2	0	1	0	5	1	2	2	5	1	0	3			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr18:77623902C>T	ENST00000316249.3	+	1	235	c.235C>T	c.(235-237)Cgc>Tgc	p.R79C		NM_012283.1	NP_036415.1	Q9UJ96	KCNG2_HUMAN	potassium voltage-gated channel, subfamily G, member 2	79					energy reserve metabolic process (GO:0006112)|potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of heart contraction (GO:0008016)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)			breast(2)|endometrium(4)|lung(7)|skin(1)|upper_aerodigestive_tract(4)	18		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;6.92e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0244)		GTGCGCCTTCCGCGCCATCGT	0.711																																						ENST00000316249.3																			0				breast(2)|endometrium(4)|lung(7)|skin(1)|upper_aerodigestive_tract(4)	18						c.(235-237)Cgc>Tgc		potassium voltage-gated channel, subfamily G, member 2							16	14	15					18																	77623902		2179	4278	6457	SO:0001583	missense	26251				energy reserve metabolic process|regulation of heart contraction|regulation of insulin secretion	voltage-gated potassium channel complex	delayed rectifier potassium channel activity	g.chr18:77623902C>T	AJ011021	CCDS12019.1	18q23	2011-07-05			ENSG00000178342	ENSG00000178342		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6249	protein-coding gene	gene with protein product		605696				10551266, 16382104	Standard	NM_012283		Approved	Kv6.2, KCNF2	uc010xfl.2	Q9UJ96	OTTHUMG00000044541	ENST00000316249.3:c.235C>T	18.37:g.77623902C>T	ENSP00000315654:p.Arg79Cys						p.R79C	NM_012283.1	NP_036415.1	Q9UJ96	KCNG2_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;6.92e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0244)	1	235	+		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)	79						Missense_Mutation	SNP	ENST00000316249.3	37	c.235C>T	CCDS12019.1	.	.	.	.	.	.	.	.	.	.	C	12.99	2.103125	0.37145	.	.	ENSG00000178342	ENST00000316249	T	0.78364	-1.17	3.77	2.74	0.32292	BTB/POZ-like (1);BTB/POZ fold (2);Potassium channel, voltage dependent, Kv, tetramerisation (1);	0.221994	0.33438	U	0.004908	D	0.86859	0.6034	M	0.89287	3.02	0.58432	D	0.999991	D	0.76494	0.999	D	0.65140	0.932	D	0.87274	0.2288	10	0.48119	T	0.1	.	10.2631	0.43438	0.373:0.627:0.0:0.0	.	79	Q9UJ96	KCNG2_HUMAN	C	79	ENSP00000315654:R79C	ENSP00000315654:R79C	R	+	1	0	KCNG2	75724890	1.000000	0.71417	1.000000	0.80357	0.612000	0.37316	1.434000	0.34958	1.676000	0.50930	0.478000	0.44815	CGC		0.711	KCNG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103906.1	NM_012283		4	14	0	0	0	0.150653	0	4	14					T	77623902	C	T	77623902	3	4	35	1	0	0	0	0	1	0	0	0	8028	652	23	2	237	2	KCNG2	18	77623902	Missense_Mutation	SNP	C	TCGA-CH-5769-01A-11D-1576-08	47273607	77623902	453346	171	1908											
ADNP2	22850	broad.mit.edu	37	chr18	77896569	77896569	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attgatgtggcttcatttttTggaaaaagaaggtatatttg	12	17	10	2	0	1	2	1	1	0	1	1	3	1	3	0	3	0	2	0	3	5	8			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr18:77896569T>C	ENST00000262198.4	+	4	3728	c.3273T>C	c.(3271-3273)ttT>ttC	p.F1091F		NM_014913.3	NP_055728.1	Q6IQ32	ADNP2_HUMAN	ADNP homeobox 2	1091					cellular response to oxidative stress (GO:0034599)|cellular response to retinoic acid (GO:0071300)|negative regulation of cell death (GO:0060548)|neuron differentiation (GO:0030182)|positive regulation of cell growth (GO:0030307)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.F1091F(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(9)|liver(1)|lung(15)|ovary(5)|prostate(2)	42		all_cancers(4;1.06e-15)|all_epithelial(4;2.36e-10)|all_lung(4;0.000302)|Lung NSC(4;0.000518)|Esophageal squamous(42;0.0212)|Ovarian(4;0.0256)|all_hematologic(56;0.15)|Melanoma(33;0.2)		Epithelial(2;1.1e-11)|OV - Ovarian serous cystadenocarcinoma(15;7.54e-09)|BRCA - Breast invasive adenocarcinoma(31;0.00247)|STAD - Stomach adenocarcinoma(84;0.164)		CTTCATTTTTTGGAAAAAGAA	0.308																																						ENST00000262198.4																			1	Substitution - coding silent(1)	p.F1091F(1)	prostate(1)	breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(9)|liver(1)|lung(15)|ovary(5)|prostate(2)	42						c.(3271-3273)ttT>ttC		ADNP homeobox 2							46	50	49					18																	77896569		2198	4290	6488	SO:0001819	synonymous_variant	22850				cellular response to oxidative stress|cellular response to retinoic acid|negative regulation of cell death|neuron differentiation|positive regulation of cell growth	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr18:77896569T>C	AB020670	CCDS32853.1	18q23	2013-01-07	2007-07-17	2007-07-17	ENSG00000101544	ENSG00000101544		"Homeoboxes / ZF class", "Zinc fingers, C2H2-type"	23803	protein-coding gene	gene with protein product			"zinc finger protein 508"	ZNF508			Standard	NM_014913		Approved	KIAA0863	uc002lnw.3	Q6IQ32	OTTHUMG00000172535	ENST00000262198.4:c.3273T>C	18.37:g.77896569T>C							p.F1091F	NM_014913.3	NP_055728.1	Q6IQ32	ADNP2_HUMAN		Epithelial(2;1.1e-11)|OV - Ovarian serous cystadenocarcinoma(15;7.54e-09)|BRCA - Breast invasive adenocarcinoma(31;0.00247)|STAD - Stomach adenocarcinoma(84;0.164)	4	3728	+		all_cancers(4;1.06e-15)|all_epithelial(4;2.36e-10)|all_lung(4;0.000302)|Lung NSC(4;0.000518)|Esophageal squamous(42;0.0212)|Ovarian(4;0.0256)|all_hematologic(56;0.15)|Melanoma(33;0.2)	1091					A8K951|O94943|Q9H9P3	Silent	SNP	ENST00000262198.4	37	c.3273T>C	CCDS32853.1																																																																																				0.308	ADNP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418979.1	NM_014913		9	98	0	0	0	0.361761	0	9	98					C	77896569	T	C	77896569	2	2	35	1	0	0	0	0	0	0	0	1	324	1809	63	4		4	ADNP2	18	77896569	Silent	SNP	T	TCGA-CH-5769-01A-11D-1576-08	272667	77896569	180679	172	1909											
HMHA1	23526	broad.mit.edu	37	chr19	1068742	1068742	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaggagtgtgtgttgcgtgaCggtgagagccacggggacac	9	7	18	7	3	0	2	0	2	0	1	0	5	0	4	1	4	2	1	1	4	1	1	rs3764655	byFrequency	TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr19:1068742C>T	ENST00000313093.2	+	2	651	c.420C>T	c.(418-420)gaC>gaT	p.D140D	HMHA1_ENST00000536472.1_Intron|HMHA1_ENST00000590214.1_Splice_Site_p.D167D|HMHA1_ENST00000539243.2_Splice_Site_p.D156D|HMHA1_ENST00000592335.1_5'Flank|HMHA1_ENST00000586866.1_Splice_Site_p.D144D|HMHA1_ENST00000543365.1_5'Flank	NM_012292.3	NP_036424.2	Q92619	HMHA1_HUMAN	histocompatibility (minor) HA-1	140					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|metal ion binding (GO:0046872)	p.D140D(1)		NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|lung(7)|ovary(1)|prostate(2)	16		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TGTTGCGTGACGGTGAGAGCC	0.652													C|||	2	0.000399361	0	0	5008	,	,		16645	0.002		0	False		,,,				2504	0					ENST00000313093.2																			1	Substitution - coding silent(1)	p.D140D(1)	prostate(1)	NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|lung(7)|ovary(1)|prostate(2)	16						c.e2+1		histocompatibility (minor) HA-1							37	37	37					19																	1068742		2198	4297	6495	SO:0001630	splice_region_variant	23526				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|metal ion binding	g.chr19:1068742C>T	D86976	CCDS32863.1, CCDS58637.1, CCDS74242.1, CCDS74243.1	19p13.3	2011-09-07				ENSG00000180448		"Rho GTPase activating proteins"	17102	protein-coding gene	gene with protein product		601155				9820596, 9039502	Standard	NM_012292		Approved	KIAA0223, HA-1, ARHGAP45	uc010xgd.2	Q92619		ENST00000313093.2:c.421+1C>T	19.37:g.1068742C>T						HMHA1_ENST00000586866.1_Splice_Site_p.D144_splice|HMHA1_ENST00000536472.1_Intron|HMHA1_ENST00000590214.1_Splice_Site_p.D167_splice|HMHA1_ENST00000539243.2_Splice_Site_p.D156_splice	p.D140_splice	NM_012292.3	NP_036424.2	Q92619	HMHA1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	2	651	+		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)	140					B4DTS4|F6QP70|Q6P189|Q7LE26|Q86WS1|Q8HX84|Q9GJN9|Q9GJP0|Q9GJP1|Q9MY24	Splice_Site	SNP	ENST00000313093.2	37	c.421_splice	CCDS32863.1																																																																																				0.652	HMHA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458026.1		Silent	13	143	0	0	0	0.411799	0	13	143					T	1068742	C	T	1068742	5	4	35	1	0	0	0	0	0	0	1	0	7240	550	19	1	426	1	HMHA1	19	1068742	Splice_Site	SNP	C	TCGA-CH-5769-01A-11D-1576-08		1068742	58060241	173	1910											
ZNF557	79230	broad.mit.edu	37	chr19	7075115	7075115	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcgtcctgcccccaactgcCggtgagtcatggggtcctgg	4	9	14	14	2	1	1	1	1	0	0	4	1	3	1	5	4	3	0	5	4	1	0	rs199839153		TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr19:7075115C>T	ENST00000439035.2	+	3	270	c.30C>T	c.(28-30)gcC>gcT	p.A10A	ZNF557_ENST00000414706.1_Splice_Site_p.A10A|ZNF557_ENST00000252840.6_Splice_Site_p.A10A			Q8N988	ZN557_HUMAN	zinc finger protein 557	10					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(6)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	17				Lung(535;0.179)		CCCCAACTGCCGGTGAGTCAT	0.642																																						ENST00000414706.1																			0				endometrium(6)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	17						c.e3+1		zinc finger protein 557		T	,,	0,4406		0,0,2203	54	59	57		30,30,30	-1.3	0	19		57	3,8597		0,3,4297	yes	coding-synonymous-near-splice,coding-synonymous-near-splice,coding-synonymous-near-splice	ZNF557	NM_001044387.1,NM_001044388.1,NM_024341.2	,,	0,3,6500	TT,TC,CC		0.0349,0.0,0.0231	,,	10/431,10/424,10/431	7075115	3,13003	2203	4300	6503	SO:0001630	splice_region_variant	79230				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:7075115C>T	AK095524	CCDS42485.1, CCDS45945.1	19p13.2	2013-09-20			ENSG00000130544	ENSG00000130544		"Zinc fingers, C2H2-type", "-"	28632	protein-coding gene	gene with protein product						12477932	Standard	NM_024341		Approved	MGC4054	uc002mgc.3	Q8N988	OTTHUMG00000181977	ENST00000439035.2:c.31+1C>T	19.37:g.7075115C>T						ZNF557_ENST00000252840.6_Splice_Site_p.A10_splice|ZNF557_ENST00000439035.2_Splice_Site_p.A10_splice	p.A10_splice	NM_001044387.1|NM_001044388.1|NM_024341.2	NP_001037852.1|NP_001037853.1|NP_077317.2	Q8N988	ZN557_HUMAN		Lung(535;0.179)	3	503	+			10					Q6PEJ3|Q9BTZ1	Splice_Site	SNP	ENST00000439035.2	37	c.31_splice	CCDS45945.1																																																																																				0.642	ZNF557-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000458502.1	NM_024341	Silent	9	126	0	0	0	0.411799	0	9	126					T	7075115	C	T	7075115	5	4	35	1	0	0	0	0	0	0	1	0	17985	666	23	2	32	2	ZNF557	19	7075115	Splice_Site	SNP	C	TCGA-CH-5769-01A-11D-1576-08	6006373	7075115	52053868	174	1911											
MUC16	94025	broad.mit.edu	37	chr19	8976368	8976368	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ctgtatgtccagcccggggcCcacagggtcagggtggtagg	6	7	17	11	1	1	0	1	0	0	0	2	0	2	0	3	6	1	2	3	6	2	2			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr19:8976368C>A	ENST00000397910.4	-	75	42663	c.42460G>T	c.(42460-42462)Ggc>Tgc	p.G14154C	MUC16_ENST00000380951.5_Missense_Mutation_p.G795C|MUC16_ENST00000596956.1_Intron	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	14185	SEA 14. {ECO:0000255|PROSITE- ProRule:PRU00188}.			Missing (in Ref. 3; AAK74120). {ECO:0000305}.	cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)		p.G14154C(2)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AGCCCGGGGCCCACAGGGTCA	0.597																																						ENST00000397910.4																			2	Substitution - Missense(2)	p.G14154C(2)	prostate(1)|lung(1)	NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(42460-42462)Ggc>Tgc		mucin 16, cell surface associated							35	35	35					19																	8976368		1984	4166	6150	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:8976368C>A	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.42460G>T	19.37:g.8976368C>A	ENSP00000381008:p.Gly14154Cys					MUC16_ENST00000596956.1_Intron|MUC16_ENST00000380951.5_Missense_Mutation_p.G795C	p.G14154C	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			75	42663	-			14185	Missing (in Ref. 3; AAK74120).		SEA 14.		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.42460G>T	CCDS54212.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	13.13|13.13	2.146313|2.146313	0.37923|0.37923	.|.	.|.	ENSG00000181143|ENSG00000181143	ENST00000397910;ENST00000380951|ENST00000542240	T;T|.	0.49139|.	0.79;0.79|.	4.07|4.07	-2.23|-2.23	0.06930|0.06930	SEA (1);|.	1.471060|.	0.04491|.	N|.	0.379457|.	T|T	0.45955|0.45955	0.1368|0.1368	M|M	0.66939|0.66939	2.045|2.045	.|.	.|.	.|.	D;D|.	0.89917|.	0.999;1.0|.	P;D|.	0.91635|.	0.905;0.999|.	T|T	0.52465|0.52465	-0.8572|-0.8572	8|4	.|.	.|.	.|.	.|.	4.2972|4.2972	0.10908|0.10908	0.0:0.3468:0.3439:0.3092|0.0:0.3468:0.3439:0.3092	.|.	21799;14154|.	Q8WXI7;B5ME49|.	MUC16_HUMAN;.|.	C|C	14154;795|976	ENSP00000381008:G14154C;ENSP00000370338:G795C|.	.|.	G|W	-|-	1|3	0|0	MUC16|MUC16	8837368|8837368	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.011000|0.011000	0.07611|0.07611	-1.115000|-1.115000	0.03289|0.03289	-0.117000|-0.117000	0.11872|0.11872	-0.223000|-0.223000	0.12442|0.12442	GGC|TGG		0.597	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		10	58	1	0	1.08611e-07	0.38729	1.20165e-07	10	58					A	8976368	C	A	8976368	3	1	35	1	0	0	0	0	1	0	0	0	9973	623	22	5	1103	5	MUC16	19	8976368	Missense_Mutation	SNP	C	TCGA-CH-5769-01A-11D-1576-08	1901253	8976368	50152615	175	1912											
ZNF317	57693	broad.mit.edu	37	chr19	9271970	9271970	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caacctgaatgtgcacaggcGgatccacaccggggagaagc	12	4	13	12	2	0	2	0	1	0	1	1	4	1	3	3	4	3	1	3	4	3	0			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr19:9271970G>A	ENST00000247956.6	+	7	1954	c.1649G>A	c.(1648-1650)cGg>cAg	p.R550Q	ZNF317_ENST00000360385.3_Missense_Mutation_p.R518Q	NM_020933.4	NP_065984.3	Q96PQ6	ZN317_HUMAN	zinc finger protein 317	550					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R550Q(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3)	27						GTGCACAGGCGGATCCACACC	0.587																																						ENST00000247956.6																			1	Substitution - Missense(1)	p.R550Q(1)	prostate(1)	breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3)	27						c.(1648-1650)cGg>cAg		zinc finger protein 317							85	73	77					19																	9271970		2203	4300	6503	SO:0001583	missense	57693				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:9271970G>A	AF275255	CCDS12210.1, CCDS54213.1	19p13	2013-01-08				ENSG00000130803		"Zinc fingers, C2H2-type", "-"	13507	protein-coding gene	gene with protein product		613864				10997877, 11688974	Standard	NM_020933		Approved		uc002mku.3	Q96PQ6		ENST00000247956.6:c.1649G>A	19.37:g.9271970G>A	ENSP00000247956:p.Arg550Gln					ZNF317_ENST00000360385.3_Missense_Mutation_p.R518Q	p.R550Q	NM_020933.4	NP_065984.3	Q96PQ6	ZN317_HUMAN			7	1954	+			550					Q6DCA9|Q96PM0|Q96PM1|Q96PT2|Q9HCI4	Missense_Mutation	SNP	ENST00000247956.6	37	c.1649G>A	CCDS12210.1	.	.	.	.	.	.	.	.	.	.	G	18.91	3.723692	0.68959	.	.	ENSG00000130803	ENST00000247956;ENST00000360385	T;T	0.24723	1.84;1.84	2.72	2.72	0.32119	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.46145	D	0.000302	T	0.43722	0.1260	M	0.69185	2.1	0.09310	N	1	D;D	0.89917	1.0;0.999	D;D	0.75020	0.936;0.985	T	0.08889	-1.0700	10	0.87932	D	0	-33.6216	9.0917	0.36614	0.0:0.0:1.0:0.0	.	518;550	Q96PQ6-2;Q96PQ6	.;ZN317_HUMAN	Q	550;518	ENSP00000247956:R550Q;ENSP00000353554:R518Q	ENSP00000247956:R550Q	R	+	2	0	ZNF317	9132970	0.004000	0.15560	0.985000	0.45067	0.864000	0.49448	1.389000	0.34453	1.843000	0.53566	0.591000	0.81541	CGG		0.587	ZNF317-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000448995.1	NM_020933		5	128	0	0	0	0.184627	0	5	128					A	9271970	G	A	9271970	3	1	35	1	0	0	0	0	1	0	0	0	17832	1116	39	2	1671	2	ZNF317	19	9271970	Missense_Mutation	SNP	G	TCGA-CH-5769-01A-11D-1576-08	295602	9271970	49857013	176	1913											
DNMT1	1786	broad.mit.edu	37	chr19	10262102	10262102	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cttctccgacccaagagatgCgattcttgttctgtttcttc	6	16	7	12	2	4	1	0	0	4	1	6	4	4	1	2	0	1	2	2	0	1	6			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr19:10262102C>T	ENST00000340748.4	-	23	2424	c.2189G>A	c.(2188-2190)cGc>cAc	p.R730H	DNMT1_ENST00000540357.1_Missense_Mutation_p.R730H|DNMT1_ENST00000359526.4_Missense_Mutation_p.R746H			P26358	DNMT1_HUMAN	DNA (cytosine-5-)-methyltransferase 1	730	Autoinhibitory linker.				cellular response to amino acid stimulus (GO:0071230)|chromatin modification (GO:0016568)|DNA methylation (GO:0006306)|gene silencing (GO:0016458)|maintenance of DNA methylation (GO:0010216)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of gene expression (GO:0010628)|positive regulation of histone H3-K4 methylation (GO:0051571)|regulation of cell proliferation (GO:0042127)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)|replication fork (GO:0005657)	chromatin binding (GO:0003682)|DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA binding (GO:0003677)|DNA-methyltransferase activity (GO:0009008)|methyl-CpG binding (GO:0008327)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)	p.R730H(2)		breast(5)|endometrium(8)|kidney(5)|large_intestine(21)|lung(11)|ovary(2)|pancreas(1)|prostate(10)|skin(5)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06)		Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Procainamide(DB01035)	CCAAGAGATGCGATTCTTGTT	0.512																																						ENST00000340748.4																			2	Substitution - Missense(2)	p.R730H(2)	prostate(2)	breast(5)|endometrium(8)|kidney(5)|large_intestine(21)|lung(11)|ovary(2)|pancreas(1)|prostate(10)|skin(5)|stomach(1)|urinary_tract(1)	70						c.(2188-2190)cGc>cAc		DNA (cytosine-5-)-methyltransferase 1	Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Ifosfamide(DB01181)|Procainamide(DB01035)						264	216	232					19																	10262102		2203	4300	6503	SO:0001583	missense	1786				chromatin modification|maintenance of DNA methylation|negative regulation of histone H3-K9 methylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of gene expression|positive regulation of histone H3-K4 methylation|transcription, DNA-dependent	nucleus	DNA (cytosine-5-)-methyltransferase activity|DNA binding|transcription factor binding	g.chr19:10262102C>T	X63692	CCDS12228.1, CCDS45958.1	19p13.2	2014-09-17				ENSG00000130816	2.1.1.37		2976	protein-coding gene	gene with protein product		126375		DNMT		1594447	Standard	NM_001379		Approved	MCMT, CXXC9	uc010xlc.2	P26358		ENST00000340748.4:c.2189G>A	19.37:g.10262102C>T	ENSP00000345739:p.Arg730His					DNMT1_ENST00000540357.1_Missense_Mutation_p.R730H|DNMT1_ENST00000359526.4_Missense_Mutation_p.R746H	p.R730H			P26358	DNMT1_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06)		23	2424	-			730					A0AV63|B7ZLW6|Q9UHG5|Q9ULA2|Q9UMZ6	Missense_Mutation	SNP	ENST00000340748.4	37	c.2189G>A	CCDS12228.1	.	.	.	.	.	.	.	.	.	.	C	28.8	4.949656	0.92660	.	.	ENSG00000130816	ENST00000359526;ENST00000540357;ENST00000340748;ENST00000541266	T;T;T	0.23348	1.91;1.91;1.91	5.75	5.75	0.90469	.	0.158280	0.52532	D	0.000067	T	0.44664	0.1304	L	0.57536	1.79	0.39925	D	0.974206	D;D;D	0.64830	0.993;0.994;0.988	P;P;P	0.56865	0.808;0.808;0.648	T	0.36237	-0.9756	10	0.66056	D	0.02	.	18.7107	0.91655	0.0:1.0:0.0:0.0	.	730;746;730	F5GX68;P26358-2;P26358	.;.;DNMT1_HUMAN	H	746;730;730;598	ENSP00000352516:R746H;ENSP00000440457:R730H;ENSP00000345739:R730H	ENSP00000345739:R730H	R	-	2	0	DNMT1	10123102	1.000000	0.71417	0.879000	0.34478	0.980000	0.70556	4.707000	0.61852	2.713000	0.92767	0.655000	0.94253	CGC		0.512	DNMT1-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451166.1	NM_001379		17	200	0	0	0	0.539581	0	17	200					T	10262102	C	T	10262102	3	4	35	1	0	0	0	0	1	0	0	0	4675	768	27	1	2733	1	DNMT1	19	10262102	Missense_Mutation	SNP	C	TCGA-CH-5769-01A-11D-1576-08	990132	10262102	48866881	177	1914											
ECSIT	51295	broad.mit.edu	37	chr19	11624790	11624790	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	accatactcccgcatcttgcGcagggccaggtagatgaagt	10	8	11	12	2	1	2	0	1	1	1	2	2	2	2	3	2	2	3	3	2	3	3	rs557443574		TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr19:11624790G>A	ENST00000270517.7	-	3	478	c.343C>T	c.(343-345)Cgc>Tgc	p.R115C	ECSIT_ENST00000252440.7_Missense_Mutation_p.R115C|ECSIT_ENST00000591104.1_Missense_Mutation_p.R115C|RN7SL833P_ENST00000498758.2_RNA|ECSIT_ENST00000588998.1_Intron|ECSIT_ENST00000592312.1_5'UTR|ECSIT_ENST00000591352.1_5'Flank|ECSIT_ENST00000417981.2_Intron	NM_016581.4	NP_057665.2	Q9BQ95	ECSIT_HUMAN	ECSIT signalling integrator	115					BMP signaling pathway (GO:0030509)|innate immune response (GO:0045087)|mesoderm formation (GO:0001707)|oxidation-reduction process (GO:0055114)|regulation of oxidoreductase activity (GO:0051341)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	oxidoreductase activity, acting on NAD(P)H (GO:0016651)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)	p.R115C(1)		kidney(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	11						CGCATCTTGCGCAGGGCCAGG	0.592																																						ENST00000270517.7																			1	Substitution - Missense(1)	p.R115C(1)	prostate(1)	kidney(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	11						c.(343-345)Cgc>Tgc		ECSIT signalling integrator							126	89	101					19																	11624790		2203	4300	6503	SO:0001583	missense	51295				innate immune response|regulation of oxidoreductase activity	mitochondrion	oxidoreductase activity, acting on NADH or NADPH|protein binding	g.chr19:11624790G>A	BC005119	CCDS12262.1, CCDS45979.1, CCDS45980.1, CCDS59353.1	19p13.2	2013-05-24	2013-05-24			ENSG00000130159		"Mitochondrial respiratory chain complex assembly factors"	29548	protein-coding gene	gene with protein product	"signaling intermediate in Toll pathway evolutionarily conserved ortholog (mouse)"	608388	"ECSIT homolog (Drosophila)"			10465784, 22982022	Standard	NM_001142464		Approved	SITPEC	uc002msb.3	Q9BQ95		ENST00000270517.7:c.343C>T	19.37:g.11624790G>A	ENSP00000270517:p.Arg115Cys					ECSIT_ENST00000417981.2_Intron|ECSIT_ENST00000588998.1_Intron|ECSIT_ENST00000252440.7_Missense_Mutation_p.R115C|ECSIT_ENST00000592312.1_5'UTR|ECSIT_ENST00000591104.1_Missense_Mutation_p.R115C	p.R115C	NM_016581.4	NP_057665.2	Q9BQ95	ECSIT_HUMAN			3	478	-			115					E9PAN9|K7EMM0|Q96HQ7|Q9NYI1	Missense_Mutation	SNP	ENST00000270517.7	37	c.343C>T	CCDS12262.1	.	.	.	.	.	.	.	.	.	.	g	20.9	4.061550	0.76187	.	.	ENSG00000130159	ENST00000270517;ENST00000252440	T;T	0.79247	-1.25;-1.25	5.71	4.66	0.58398	.	0.106546	0.64402	D	0.000010	D	0.86272	0.5893	M	0.76574	2.34	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.69824	0.966;0.949	D	0.87543	0.2460	10	0.87932	D	0	-21.7571	12.1697	0.54150	0.0:0.0:0.5759:0.4241	.	115;115	Q9BQ95-2;Q9BQ95	.;ECSIT_HUMAN	C	115	ENSP00000270517:R115C;ENSP00000252440:R115C	ENSP00000252440:R115C	R	-	1	0	ECSIT	11485790	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.205000	0.32308	1.377000	0.46286	0.543000	0.68304	CGC		0.592	ECSIT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442603.2	NM_016581		6	111	0	0	0	0.307466	0	6	111					A	11624790	G	A	11624790	3	1	35	1	0	0	0	0	1	0	0	0	4900	1087	38	1	976	1	ECSIT	19	11624790	Missense_Mutation	SNP	G	TCGA-CH-5769-01A-11D-1576-08	1362688	11624790	47504193	178	1915											
ZNF700	90592	broad.mit.edu	37	chr19	12060642	12060642	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aagcaatgtgggaaagccttCagttgtgcctcaaaccttcg	11	10	10	10	1	2	0	2	0	0	0	3	1	2	1	3	1	4	2	3	1	4	3			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr19:12060642C>T	ENST00000254321.5	+	4	1946	c.1803C>T	c.(1801-1803)ttC>ttT	p.F601F	ZNF763_ENST00000590798.1_Intron|CTD-2006C1.12_ENST00000586394.1_RNA|ZNF763_ENST00000591944.1_Intron|ZNF763_ENST00000538752.1_Intron|ZNF700_ENST00000482090.1_Silent_p.F583F	NM_001271848.1|NM_144566.1	NP_001258777.1|NP_653167.1	Q9H0M5	ZN700_HUMAN	zinc finger protein 700	601					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)		ZNF700/MAST1_ENST00000251472(2)	breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|pancreas(1)|prostate(1)|urinary_tract(1)	33						GGAAAGCCTTCAGTTGTGCCT	0.478																																						ENST00000482090.1																		ZNF700/MAST1_ENST00000251472(2)	0				breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|pancreas(1)|prostate(1)|urinary_tract(1)	33						c.(1747-1749)ttC>ttT		zinc finger protein 700							109	106	107					19																	12060642		2203	4300	6503	SO:0001819	synonymous_variant	90592				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12060642C>T	AL136732	CCDS32915.1, CCDS74289.1	19p13.2	2013-01-08			ENSG00000196757	ENSG00000196757		"Zinc fingers, C2H2-type", "-"	25292	protein-coding gene	gene with protein product							Standard	NM_144566		Approved	DKFZp434I1610	uc031rjk.1	Q9H0M5	OTTHUMG00000156421	ENST00000254321.5:c.1803C>T	19.37:g.12060642C>T						ZNF763_ENST00000591944.1_Intron|ZNF763_ENST00000538752.1_Intron|ZNF763_ENST00000590798.1_Intron|ZNF700_ENST00000254321.5_Silent_p.F601F|CTD-2006C1.12_ENST00000586394.1_RNA	p.F583F			Q9H0M5	ZN700_HUMAN			3	2167	+			601					B9EGU4	Silent	SNP	ENST00000254321.5	37	c.1749C>T	CCDS32915.1																																																																																				0.478	ZNF700-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344126.2	NM_144566		6	184	0	0	0	0.27861	0	6	184					T	12060642	C	T	12060642	2	4	35	1	0	0	0	0	0	0	0	1	18101	825	29	3		3	ZNF700	19	12060642	Silent	SNP	C	TCGA-CH-5769-01A-11D-1576-08	435852	12060642	47068341	179	1916											
HOOK2	29911	broad.mit.edu	37	chr19	12881812	12881812	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctagtcagcgcctggttcCggtgctgcagctccgcaacc	5	8	13	15	3	1	0	1	0	0	0	3	0	3	0	4	3	5	6	4	3	2	2			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr19:12881812C>T	ENST00000397668.3	-	10	909	c.836G>A	c.(835-837)cGg>cAg	p.R279Q	HOOK2_ENST00000589965.1_Intron|HOOK2_ENST00000264827.5_Missense_Mutation_p.R279Q	NM_013312.2	NP_037444.2	Q96ED9	HOOK2_HUMAN	hook microtubule-tethering protein 2	279	Sufficient for interaction with microtubules.				early endosome to late endosome transport (GO:0045022)|endocytosis (GO:0006897)|endosome organization (GO:0007032)|endosome to lysosome transport (GO:0008333)|lysosome organization (GO:0007040)|protein transport (GO:0015031)	centrosome (GO:0005813)|FHF complex (GO:0070695)|microtubule (GO:0005874)	identical protein binding (GO:0042802)	p.R279Q(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(5)|skin(1)	20						CGCCTGGTTCCGGTGCTGCAG	0.652																																						ENST00000264827.5																			1	Substitution - Missense(1)	p.R279Q(1)	prostate(1)	breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(5)|skin(1)	20						c.(835-837)cGg>cAg		hook microtubule-tethering protein 2							32	37	36					19																	12881812		2062	4198	6260	SO:0001583	missense	29911				early endosome to late endosome transport|endocytosis|endosome organization|endosome to lysosome transport|lysosome organization|microtubule cytoskeleton organization|protein transport	centrosome|FHF complex|microtubule	identical protein binding|microtubule binding	g.chr19:12881812C>T	AF044924	CCDS42507.1, CCDS42508.1	19p13.2	2013-08-21	2013-08-21						19885	protein-coding gene	gene with protein product		607824	"hook homolog 2 (Drosophila)"			9927460	Standard	NM_013312		Approved	HK2	uc002muy.2	Q96ED9		ENST00000397668.3:c.836G>A	19.37:g.12881812C>T	ENSP00000380785:p.Arg279Gln					HOOK2_ENST00000397668.3_Missense_Mutation_p.R279Q|HOOK2_ENST00000589965.1_Intron	p.R279Q	NM_001100176.1	NP_001093646.1	Q96ED9	HOOK2_HUMAN			10	1006	-			279			Sufficient for interaction with microtubules.		O60562	Missense_Mutation	SNP	ENST00000397668.3	37	c.836G>A	CCDS42508.1	.	.	.	.	.	.	.	.	.	.	c	19.28	3.797502	0.70567	.	.	ENSG00000095066	ENST00000397668;ENST00000264827	T;T	0.22336	1.96;1.96	4.8	4.8	0.61643	.	0.000000	0.85682	D	0.000000	T	0.41994	0.1183	L	0.58669	1.825	0.39931	D	0.974285	D;D	0.89917	1.0;1.0	D;D	0.75020	0.975;0.985	T	0.22277	-1.0221	10	0.32370	T	0.25	-38.4582	16.6404	0.85070	0.0:1.0:0.0:0.0	.	279;279	Q96ED9-2;Q96ED9	.;HOOK2_HUMAN	Q	279	ENSP00000380785:R279Q;ENSP00000264827:R279Q	ENSP00000264827:R279Q	R	-	2	0	HOOK2	12742812	0.835000	0.29415	1.000000	0.80357	0.928000	0.56348	1.526000	0.35964	2.224000	0.72417	0.454000	0.30748	CGG		0.652	HOOK2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000451008.1	NM_013312		4	57	0	0	0	0.150653	0	4	57					T	12881812	C	T	12881812	3	4	35	1	0	0	0	0	1	0	0	0	7283	652	23	2	1379	2	HOOK2	19	12881812	Missense_Mutation	SNP	C	TCGA-CH-5769-01A-11D-1576-08	821170	12881812	46247171	180	1917											
RAB3A	5864	broad.mit.edu	37	chr19	18313413	18313413	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctgacgaaggcaggcgtgaaCgagtcgtcagcatagcggaa	12	5	15	9	5	1	2	1	2	0	0	2	5	1	3	0	3	3	2	0	3	4	1	rs144222621		TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr19:18313413C>T	ENST00000222256.4	-	2	316	c.138G>A	c.(136-138)tcG>tcA	p.S46S	RAB3A_ENST00000464076.3_Intron|AC068499.10_ENST00000594805.3_RNA|AC068499.10_ENST00000599416.2_RNA|AC068499.10_ENST00000596473.1_RNA	NM_002866.4	NP_002857.1	P20336	RAB3A_HUMAN	RAB3A, member RAS oncogene family	46					axonogenesis (GO:0007409)|constitutive secretory pathway (GO:0045054)|glutamate secretion (GO:0014047)|GTP catabolic process (GO:0006184)|lung development (GO:0030324)|maintenance of presynaptic active zone structure (GO:0048790)|mitochondrion organization (GO:0007005)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter secretion (GO:0007269)|positive regulation of exocytosis (GO:0045921)|post-embryonic development (GO:0009791)|protein transport (GO:0015031)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|regulation of synaptic vesicle fusion to presynaptic membrane (GO:0031630)|respiratory system process (GO:0003016)|response to electrical stimulus (GO:0051602)|sensory perception of touch (GO:0050975)|small GTPase mediated signal transduction (GO:0007264)|synaptic transmission (GO:0007268)|synaptic vesicle exocytosis (GO:0016079)|synaptic vesicle maturation (GO:0016188)|synaptic vesicle recycling (GO:0036465)	acrosomal vesicle (GO:0001669)|axon (GO:0030424)|clathrin-sculpted acetylcholine transport vesicle membrane (GO:0060201)|clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane (GO:0061202)|clathrin-sculpted glutamate transport vesicle membrane (GO:0060203)|clathrin-sculpted monoamine transport vesicle membrane (GO:0070083)|cytosol (GO:0005829)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|synaptic vesicle (GO:0008021)|terminal bouton (GO:0043195)|vesicle (GO:0031982)	ATPase activator activity (GO:0001671)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|myosin V binding (GO:0031489)	p.S46S(2)		NS(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	8						CAGGCGTGAACGAGTCGTCAG	0.542											OREG0025360	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000222256.4																			2	Substitution - coding silent(2)	p.S46S(2)	prostate(1)|lung(1)	NS(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	8						c.(136-138)tcG>tcA		RAB3A, member RAS oncogene family							283	226	245					19																	18313413		2203	4300	6503	SO:0001819	synonymous_variant	5864				glutamate secretion|protein transport|small GTPase mediated signal transduction	clathrin sculpted acetylcholine transport vesicle membrane|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|clathrin sculpted glutamate transport vesicle membrane|clathrin sculpted monoamine transport vesicle membrane|plasma membrane|synaptic vesicle	GTP binding|GTPase activity	g.chr19:18313413C>T		CCDS12372.1	19p13.2	2008-07-17			ENSG00000105649	ENSG00000105649		"RAB, member RAS oncogene"	9777	protein-coding gene	gene with protein product	"RAS-associated protein RAB3A"	179490				2687157, 7532276	Standard	NM_002866		Approved		uc002nie.2	P20336	OTTHUMG00000137378	ENST00000222256.4:c.138G>A	19.37:g.18313413C>T			OREG0025360	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	724	RAB3A_ENST00000464076.2_Intron	p.S46S	NM_002866.4	NP_002857.1	P20336	RAB3A_HUMAN			2	316	-			46					A8K0J4|Q9NYE1	Silent	SNP	ENST00000222256.4	37	c.138G>A	CCDS12372.1																																																																																				0.542	RAB3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268056.2	NM_002866		42	273	0	0	0	0.834066	0	42	273					T	18313413	C	T	18313413	2	4	35	1	0	0	0	0	0	0	0	1	12931	523	19	1		1	RAB3A	19	18313413	Silent	SNP	C	TCGA-CH-5769-01A-11D-1576-08	5431601	18313413	40815570	181	1918											
GMIP	51291	broad.mit.edu	37	chr19	19748980	19748980	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgcccaccttggcctgggcCtcctctcgcgagcgccgccg	2	7	13	19	5	1	0	0	0	1	0	3	1	2	0	7	2	2	0	7	2	0	1			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr19:19748980C>A	ENST00000203556.4	-	9	914	c.777G>T	c.(775-777)gaG>gaT	p.E259D	GMIP_ENST00000586269.1_5'Flank|GMIP_ENST00000587238.1_Missense_Mutation_p.E259D|GMIP_ENST00000445806.2_Missense_Mutation_p.E259D	NM_016573.2	NP_057657.2	Q9P107	GMIP_HUMAN	GEM interacting protein	259					intracellular signal transduction (GO:0035556)|negative regulation of Rho GTPase activity (GO:0034259)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|intracellular (GO:0005622)	metal ion binding (GO:0046872)|Rho GTPase activator activity (GO:0005100)			breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						TGGCCTGGGCCTCCTCTCGCG	0.771																																						ENST00000203556.4																			0				breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						c.(775-777)gaG>gaT		GEM interacting protein							4	6	5					19																	19748980		1904	3835	5739	SO:0001583	missense	51291				negative regulation of Rho GTPase activity|small GTPase mediated signal transduction	cytosol	metal ion binding|protein binding|Rho GTPase activator activity	g.chr19:19748980C>A	AF132541	CCDS12408.1, CCDS74318.1	19p13.11	2011-09-07				ENSG00000089639		"Rho GTPase activating proteins"	24852	protein-coding gene	gene with protein product		609694				12093360, 16086184	Standard	XM_005259927		Approved	ARHGAP46	uc002nnd.3	Q9P107		ENST00000203556.4:c.777G>T	19.37:g.19748980C>A	ENSP00000203556:p.Glu259Asp					GMIP_ENST00000587238.1_Missense_Mutation_p.E259D|GMIP_ENST00000445806.2_Missense_Mutation_p.E259D	p.E259D	NM_016573.2	NP_057657.2	Q9P107	GMIP_HUMAN			9	914	-			259					A0AVN9|B7ZLZ0	Missense_Mutation	SNP	ENST00000203556.4	37	c.777G>T	CCDS12408.1	.	.	.	.	.	.	.	.	.	.	C	12.60	1.986478	0.35036	.	.	ENSG00000089639	ENST00000203556;ENST00000445806	T;T	0.47528	0.84;0.84	3.74	2.63	0.31362	.	0.167540	0.28279	N	0.015930	T	0.35219	0.0924	L	0.41961	1.31	0.46749	D	0.999184	B;B;B	0.12630	0.006;0.006;0.006	B;B;B	0.09377	0.004;0.004;0.004	T	0.14896	-1.0456	10	0.21540	T	0.41	-22.8359	10.0429	0.42169	0.2144:0.7856:0.0:0.0	.	259;259;259	E7ERB7;B7ZLZ0;Q9P107	.;.;GMIP_HUMAN	D	259	ENSP00000203556:E259D;ENSP00000397075:E259D	ENSP00000203556:E259D	E	-	3	2	GMIP	19609980	0.995000	0.38212	1.000000	0.80357	0.669000	0.39330	0.310000	0.19356	1.918000	0.55548	0.313000	0.20887	GAG		0.771	GMIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460551.1	NM_016573		4	15	1	0	1.024e-07	0.184627	1.13899e-07	4	15					A	19748980	C	A	19748980	3	1	35	1	0	0	0	0	1	0	0	0	6491	680	24	5	2187	5	GMIP	19	19748980	Missense_Mutation	SNP	C	TCGA-CH-5769-01A-11D-1576-08	1435567	19748980	39380003	182	1919											
ZBTB32	27033	broad.mit.edu	37	chr19	36206307	36206307	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttggttggtggggggccagcCtgccctgtggagcatcctgc	3	10	17	11	0	0	0	0	0	0	0	1	1	1	1	4	6	4	2	4	6	0	2			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr19:36206307C>A	ENST00000392197.2	+	3	1097	c.779C>A	c.(778-780)cCt>cAt	p.P260H	KMT2B_ENST00000341701.1_5'Flank|KMT2B_ENST00000420124.1_5'Flank|KMT2B_ENST00000222270.7_5'Flank|ZBTB32_ENST00000262630.3_Missense_Mutation_p.P260H|KMT2B_ENST00000607650.1_RNA			Q9Y2Y4	ZBT32_HUMAN	zinc finger and BTB domain containing 32	260					DNA repair (GO:0006281)|hemopoiesis (GO:0030097)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of cytokine production (GO:0001817)|T cell proliferation (GO:0042098)|transcription from RNA polymerase II promoter (GO:0006366)	nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)	p.P260H(1)		large_intestine(5)|lung(1)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	14	all_lung(56;2.22e-07)|Lung NSC(56;3.47e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			GGGGGCCAGCCTGCCCTGTGG	0.672																																						ENST00000392197.2																			1	Substitution - Missense(1)	p.P260H(1)	prostate(1)	large_intestine(5)|lung(1)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	14						c.(778-780)cCt>cAt		zinc finger and BTB domain containing 32							42	45	44					19																	36206307		2201	4297	6498	SO:0001583	missense	27033				DNA repair|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleoplasm	DNA binding|protein binding|transcription corepressor activity|zinc ion binding	g.chr19:36206307C>A	AF130255	CCDS12471.1	19q13.1	2013-01-08			ENSG00000011590	ENSG00000011590		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	16763	protein-coding gene	gene with protein product	"repressor of GATA"	605859				10572087	Standard	XM_005258739		Approved	TZFP, FAZF, FAXF, Rog, ZNF538	uc002oay.3	Q9Y2Y4	OTTHUMG00000048118	ENST00000392197.2:c.779C>A	19.37:g.36206307C>A	ENSP00000376035:p.Pro260His					ZBTB32_ENST00000262630.3_Missense_Mutation_p.P260H	p.P260H			Q9Y2Y4	ZBT32_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0515)		3	1097	+	all_lung(56;2.22e-07)|Lung NSC(56;3.47e-07)|Esophageal squamous(110;0.162)		260					Q8WVP2	Missense_Mutation	SNP	ENST00000392197.2	37	c.779C>A	CCDS12471.1	.	.	.	.	.	.	.	.	.	.	C	20.5	4.005196	0.74932	.	.	ENSG00000011590	ENST00000262630;ENST00000392197	T;T	0.10192	2.9;2.9	5.33	5.33	0.75918	.	0.314536	0.23405	N	0.048535	T	0.15739	0.0379	L	0.27053	0.805	0.28072	N	0.93254	D	0.63046	0.992	P	0.54401	0.751	T	0.02263	-1.1186	10	0.54805	T	0.06	-0.6659	14.5085	0.67769	0.0:1.0:0.0:0.0	.	260	Q9Y2Y4	ZBT32_HUMAN	H	260	ENSP00000262630:P260H;ENSP00000376035:P260H	ENSP00000262630:P260H	P	+	2	0	ZBTB32	40898147	0.005000	0.15991	1.000000	0.80357	0.996000	0.88848	1.682000	0.37628	2.489000	0.83994	0.655000	0.94253	CCT		0.672	ZBTB32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109491.3	NM_014383		14	135	1	0	1.15088e-07	0.500413	1.26657e-07	14	135					A	36206307	C	A	36206307	3	1	35	1	0	0	0	0	1	0	0	0	17532	681	24	5	781	5	ZBTB32	19	36206307	Missense_Mutation	SNP	C	TCGA-CH-5769-01A-11D-1576-08	16457327	36206307	22922676	183	1920											
ZNF574	64763	broad.mit.edu	37	chr19	42584668	42584668	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgccgggcgccagccccaccGctgcccatcctgtggggctg	3	6	14	18	3	0	0	0	0	0	0	1	0	1	0	7	3	3	2	7	3	0	0	rs369881574		TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr19:42584668G>A	ENST00000600245.1	+	2	2565	c.1910G>A	c.(1909-1911)cGc>cAc	p.R637H	ZNF574_ENST00000359044.4_Missense_Mutation_p.R637H|ZNF574_ENST00000222339.7_Missense_Mutation_p.R727H|CTB-59C6.3_ENST00000594531.1_RNA			Q6ZN55	ZN574_HUMAN	zinc finger protein 574	637					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R637H(1)		endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	20		Prostate(69;0.059)				CAGCCCCACCGCTGCCCATCC	0.701																																						ENST00000600245.1																			1	Substitution - Missense(1)	p.R637H(1)	prostate(1)	endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	20						c.(1909-1911)cGc>cAc		zinc finger protein 574							45	49	48					19																	42584668		2202	4296	6498	SO:0001583	missense	64763				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:42584668G>A	AK074788	CCDS12596.1	19q13.2	2013-09-20			ENSG00000105732	ENSG00000105732		"Zinc fingers, C2H2-type"	26166	protein-coding gene	gene with protein product						12477932	Standard	NM_022752		Approved	FLJ22059	uc002osm.4	Q6ZN55	OTTHUMG00000182751	ENST00000600245.1:c.1910G>A	19.37:g.42584668G>A	ENSP00000469029:p.Arg637His					ZNF574_ENST00000222339.7_Missense_Mutation_p.R727H|ZNF574_ENST00000359044.4_Missense_Mutation_p.R637H	p.R637H			Q6ZN55	ZN574_HUMAN			2	2565	+		Prostate(69;0.059)	637					Q6IPE0|Q6ZN10|Q7L5Z5|Q8NCE3|Q9H6N0	Missense_Mutation	SNP	ENST00000600245.1	37	c.1910G>A	CCDS12596.1	.	.	.	.	.	.	.	.	.	.	G	17.91	3.503426	0.64298	.	.	ENSG00000105732	ENST00000222339;ENST00000359044;ENST00000535775	T;T	0.15487	2.42;2.42	5.4	5.4	0.78164	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.218621	0.39341	N	0.001400	T	0.34395	0.0896	L	0.39147	1.195	0.43540	D	0.995834	D;D	0.89917	0.999;1.0	D;D	0.70227	0.921;0.968	T	0.02519	-1.1147	10	0.59425	D	0.04	-26.3727	17.944	0.89034	0.0:0.0:1.0:0.0	.	637;726	Q6ZN55;Q6ZN55-2	ZN574_HUMAN;.	H	727;637;244	ENSP00000222339:R727H;ENSP00000351939:R637H	ENSP00000222339:R727H	R	+	2	0	ZNF574	47276508	0.000000	0.05858	1.000000	0.80357	0.997000	0.91878	-0.423000	0.07034	2.525000	0.85131	0.637000	0.83480	CGC		0.701	ZNF574-002	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463458.1	NM_022752		10	199	0	0	0	0.361761	0	10	199					A	42584668	G	A	42584668	3	1	35	1	0	0	0	0	1	0	0	0	18003	1087	38	1	1912	1	ZNF574	19	42584668	Missense_Mutation	SNP	G	TCGA-CH-5769-01A-11D-1576-08	6378361	42584668	16544315	184	1921											
CLPTM1	1209	broad.mit.edu	37	chr19	45476426	45476426	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgggccccggaggagctccaCgcgtcgccagccgcaacctg	6	3	14	18	6	0	0	0	0	0	0	2	2	1	2	6	3	3	2	6	3	1	0			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr19:45476426C>T	ENST00000337392.5	+	3	418	c.268C>T	c.(268-270)Cgc>Tgc	p.R90C	CLPTM1_ENST00000541297.2_Missense_Mutation_p.R76C|CLPTM1_ENST00000546079.1_5'UTR	NM_001282175.1|NM_001282176.1|NM_001294.2	NP_001269104.1|NP_001269105.1|NP_001285.1	O96005	CLPT1_HUMAN	cleft lip and palate associated transmembrane protein 1	90					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|regulation of T cell differentiation in thymus (GO:0033081)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)		p.R90C(2)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00354)|Epithelial(262;0.187)		AGGAGCTCCACGCGTCGCCAG	0.627																																						ENST00000541297.2																			2	Substitution - Missense(2)	p.R90C(2)	prostate(2)	endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						c.(226-228)Cgc>Tgc		cleft lip and palate associated transmembrane protein 1							33	38	36					19																	45476426		2203	4300	6503	SO:0001583	missense	1209				cell differentiation|multicellular organismal development|regulation of T cell differentiation in thymus	external side of plasma membrane|integral to plasma membrane		g.chr19:45476426C>T	AF037339	CCDS12651.1, CCDS74394.1, CCDS74395.1	19q13.3	2008-02-05				ENSG00000104853			2087	protein-coding gene	gene with protein product		604783				9828125	Standard	NM_001294		Approved		uc002pai.3	O96005		ENST00000337392.5:c.268C>T	19.37:g.45476426C>T	ENSP00000336994:p.Arg90Cys					CLPTM1_ENST00000337392.5_Missense_Mutation_p.R90C|CLPTM1_ENST00000546079.1_5'UTR	p.R76C			O96005	CLPT1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00354)|Epithelial(262;0.187)	3	691	+		all_neural(266;0.224)|Ovarian(192;0.231)	90					B3KQH2|B4DDS3|B4E2X9|B7Z9X9|F5H8J3|Q53ET6|Q9BSS5	Missense_Mutation	SNP	ENST00000337392.5	37	c.226C>T	CCDS12651.1	.	.	.	.	.	.	.	.	.	.	C	19.56	3.851095	0.71719	.	.	ENSG00000104853	ENST00000541297;ENST00000337392;ENST00000347493	.	.	.	5.56	5.56	0.83823	.	0.000000	0.85682	D	0.000000	T	0.77671	0.4165	M	0.69823	2.125	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.67725	0.922;0.953	T	0.78455	-0.2197	9	0.54805	T	0.06	-24.8352	17.0775	0.86590	0.0:1.0:0.0:0.0	.	76;90	F5H8J3;O96005	.;CLPT1_HUMAN	C	76;90;90	.	ENSP00000336994:R90C	R	+	1	0	CLPTM1	50168266	0.989000	0.36119	1.000000	0.80357	0.612000	0.37316	2.923000	0.48868	2.633000	0.89246	0.555000	0.69702	CGC		0.627	CLPTM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453267.1	NM_001294		14	119	0	0	0	0.435327	0	14	119					T	45476426	C	T	45476426	3	4	35	1	0	0	0	0	1	0	0	0	3554	536	19	1	278	1	CLPTM1	19	45476426	Missense_Mutation	SNP	C	TCGA-CH-5769-01A-11D-1576-08	2891758	45476426	13652557	185	1922											
KLK4	9622	broad.mit.edu	37	chr19	51412615	51412615	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcctgccagggctgcgagtgCgggctgcagtcctcgccgtt	3	8	16	14	4	0	0	0	0	0	0	2	1	1	0	4	2	4	4	4	2	0	1			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr19:51412615C>T	ENST00000324041.1	-	2	116	c.117G>A	c.(115-117)ccG>ccA	p.P39P	KLK4_ENST00000431178.2_5'Flank|KLK4_ENST00000597441.1_5'Flank	NM_004917.3	NP_004908.3	Q9Y5K2	KLK4_HUMAN	kallikrein-related peptidase 4	39	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				amelogenesis (GO:0097186)|extracellular matrix disassembly (GO:0022617)|protein catabolic process (GO:0030163)|proteolysis (GO:0006508)	extracellular region (GO:0005576)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(8)	19		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00624)|GBM - Glioblastoma multiforme(134;0.00878)		GCTGCGAGTGCGGGCTGCAGT	0.637																																						ENST00000324041.1																			0				autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(8)	19						c.(115-117)ccG>ccA		kallikrein-related peptidase 4							136	150	145					19																	51412615		2203	4300	6503	SO:0001819	synonymous_variant	9622				proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity	g.chr19:51412615C>T	AF113141	CCDS12809.1	19q13.41	2014-09-04	2006-10-27		ENSG00000167749	ENSG00000167749		"Kallikreins", "Serine peptidases / Serine peptidases"	6365	protein-coding gene	gene with protein product		603767	"kallikrein 4 (prostase, enamel matrix, prostate)"	PRSS17		10077646, 10438493, 16800724, 10863090, 9465170	Standard	XM_005259441		Approved	EMSP, EMSP1, PSTS, KLK-L1	uc002pua.1	Q9Y5K2	OTTHUMG00000182964	ENST00000324041.1:c.117G>A	19.37:g.51412615C>T							p.P39P	NM_004917.3	NP_004908.3	Q9Y5K2	KLK4_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00624)|GBM - Glioblastoma multiforme(134;0.00878)	2	116	-		all_neural(266;0.026)	39			Peptidase S1.		Q4VB16|Q96RU5|Q9GZL6|Q9UBJ6	Silent	SNP	ENST00000324041.1	37	c.117G>A	CCDS12809.1																																																																																				0.637	KLK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464449.1	NM_004917		7	503	0	0	0	0.27861	0	7	503					T	51412615	C	T	51412615	2	4	35	1	0	0	0	0	0	0	0	1	8406	755	27	1		1	KLK4	19	51412615	Silent	SNP	C	TCGA-CH-5769-01A-11D-1576-08	5936189	51412615	7716368	186	1923											
ZNF71	58491	broad.mit.edu	37	chr19	57132798	57132798	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aggcagctggccagagaggcCgcggggagatgcaggtgcag	9	3	20	9	2	0	2	0	0	0	2	0	4	0	2	2	6	3	4	2	6	0	0	rs374291976		TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr19:57132798C>T	ENST00000328070.6	+	3	377	c.143C>T	c.(142-144)cCg>cTg	p.P48L		NM_021216.4	NP_067039.1	Q9NQZ8	ZNF71_HUMAN	zinc finger protein 71	48					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	26				GBM - Glioblastoma multiforme(193;0.062)|Lung(386;0.0681)|LUSC - Lung squamous cell carcinoma(496;0.18)		CCAGAGAGGCCGCGGGGAGAT	0.617																																						ENST00000328070.6																			0				endometrium(3)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	26						c.(142-144)cCg>cTg		zinc finger protein 71		C	LEU/PRO	0,4406		0,0,2203	33	35	34		143	-6	0	19		34	1,8599	1.2+/-3.3	0,1,4299	no	missense	ZNF71	NM_021216.4	98	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	48/490	57132798	1,13005	2203	4300	6503	SO:0001583	missense	58491					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:57132798C>T	X60074	CCDS12947.1	19q13.4	2013-01-08	2006-05-12			ENSG00000197951		"Zinc fingers, C2H2-type"	13141	protein-coding gene	gene with protein product		194545	"zinc finger protein 71 (Cos26)"			1639391	Standard	NM_021216		Approved	Cos26, EZFIT	uc002qnm.4	Q9NQZ8		ENST00000328070.6:c.143C>T	19.37:g.57132798C>T	ENSP00000328245:p.Pro48Leu						p.P48L	NM_021216.4	NP_067039.1	Q9NQZ8	ZNF71_HUMAN		GBM - Glioblastoma multiforme(193;0.062)|Lung(386;0.0681)|LUSC - Lung squamous cell carcinoma(496;0.18)	3	377	+			48					Q15919|Q9UC09|Q9UQD3	Missense_Mutation	SNP	ENST00000328070.6	37	c.143C>T	CCDS12947.1	.	.	.	.	.	.	.	.	.	.	C	0.498	-0.872253	0.02570	0.0	1.16E-4	ENSG00000197951	ENST00000328070	T	0.06849	3.25	3.01	-6.03	0.02185	.	.	.	.	.	T	0.04363	0.0120	N	0.22421	0.69	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.28839	-1.0031	9	0.48119	T	0.1	.	2.3552	0.04293	0.1296:0.3823:0.2465:0.2416	.	48	Q9NQZ8	ZNF71_HUMAN	L	48	ENSP00000328245:P48L	ENSP00000328245:P48L	P	+	2	0	ZNF71	61824610	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-5.485000	0.00118	-4.780000	0.00032	-3.822000	0.00019	CCG		0.617	ZNF71-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459798.2	NM_021216		9	53	0	0	0	0.307466	0	9	53					T	57132798	C	T	57132798	3	4	35	1	0	0	0	0	1	0	0	0	18111	652	23	2	145	2	ZNF71	19	57132798	Missense_Mutation	SNP	C	TCGA-CH-5769-01A-11D-1576-08	5720183	57132798	1996185	187	1924											
C20orf96	140680	broad.mit.edu	37	chr20	264701	264701	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gctggcagcttgtcaccaccGtagtgggcttgaagtgaaac	9	9	13	10	1	1	2	1	2	0	0	1	2	1	2	2	2	2	5	2	2	3	3			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr20:264701G>A	ENST00000360321.2	-	4	347	c.209C>T	c.(208-210)aCg>aTg	p.T70M	C20orf96_ENST00000400269.3_Missense_Mutation_p.T12M|C20orf96_ENST00000382369.5_Missense_Mutation_p.T35M	NM_080571.1|NM_153269.2	NP_542138.1|NP_695001.2	Q9NUD7	CT096_HUMAN	chromosome 20 open reading frame 96	70								p.T70M(1)		endometrium(3)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	12		all_cancers(10;0.00959)|Lung NSC(37;0.227)	OV - Ovarian serous cystadenocarcinoma(29;0.149)			TGTCACCACCGTAGTGGGCTT	0.537																																						ENST00000360321.2																			1	Substitution - Missense(1)	p.T70M(1)	prostate(1)	endometrium(3)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	12						c.(208-210)aCg>aTg		chromosome 20 open reading frame 96							146	124	131					20																	264701		2203	4300	6503	SO:0001583	missense	140680							g.chr20:264701G>A	AL034548	CCDS12994.1, CCDS74685.1	20p13	2012-10-30			ENSG00000196476	ENSG00000196476			16227	protein-coding gene	gene with protein product							Standard	NM_153269		Approved	dJ1103G7.2	uc002wde.2	Q9NUD7	OTTHUMG00000031626	ENST00000360321.2:c.209C>T	20.37:g.264701G>A	ENSP00000353470:p.Thr70Met					C20orf96_ENST00000382369.5_Missense_Mutation_p.T35M|C20orf96_ENST00000400269.3_Missense_Mutation_p.T12M	p.T70M	NM_080571.1|NM_153269.2	NP_542138.1|NP_695001.2	Q9NUD7	CT096_HUMAN	OV - Ovarian serous cystadenocarcinoma(29;0.149)		4	347	-		all_cancers(10;0.00959)|Lung NSC(37;0.227)	70					A3KPE0|B2RPH9|Q8N840|Q8NAX5	Missense_Mutation	SNP	ENST00000360321.2	37	c.209C>T	CCDS12994.1	.	.	.	.	.	.	.	.	.	.	g	1.611	-0.524044	0.04141	.	.	ENSG00000196476	ENST00000382369;ENST00000360321;ENST00000400269	T;T;T	0.49139	0.89;0.79;0.89	3.54	-6.6	0.01824	.	2.662760	0.01471	N	0.016287	T	0.14570	0.0352	N	0.00538	-1.39	0.09310	N	1	B;B;B;B	0.12013	0.002;0.005;0.001;0.001	B;B;B;B	0.06405	0.002;0.001;0.0;0.001	T	0.30707	-0.9969	10	0.32370	T	0.25	2.3706	4.3448	0.11127	0.3868:0.1044:0.4069:0.1019	.	12;35;70;35	F5GZA9;B7Z971;Q9NUD7;Q5JYC3	.;.;CT096_HUMAN;.	M	35;70;12	ENSP00000371806:T35M;ENSP00000353470:T70M;ENSP00000383128:T12M	ENSP00000353470:T70M	T	-	2	0	C20orf96	212701	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.653000	0.01986	-2.961000	0.00290	-4.977000	0.00002	ACG		0.537	C20orf96-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077439.2	NM_153269		10	104	0	0	0	0.38729	0	10	104					A	264701	G	A	264701	3	1	35	1	0	0	0	0	1	0	0	0	2122	1145	40	1	914	1	C20orf96	20	264701	Missense_Mutation	SNP	G	TCGA-CH-5769-01A-11D-1576-08		264701	62760819	188	1925											
ENTPD6	955	broad.mit.edu	37	chr20	25195565	25195565	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gactgtgtttccatcatgaaCggaacagatgaaggtaaatg	14	10	11	6	1	1	3	1	2	0	1	2	5	2	4	1	2	2	2	1	2	5	2	rs146741054		TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr20:25195565C>T	ENST00000376652.4	+	6	823	c.660C>T	c.(658-660)aaC>aaT	p.N220N	ENTPD6_ENST00000433259.2_Silent_p.N220N|ENTPD6_ENST00000354989.5_Silent_p.N203N|Y_RNA_ENST00000365544.1_RNA|ENTPD6_ENST00000360031.2_Silent_p.N219N			O75354	ENTP6_HUMAN	ectonucleoside triphosphate diphosphohydrolase 6 (putative)	220					response to calcium ion (GO:0051592)|response to magnesium ion (GO:0032026)	cell surface (GO:0009986)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	guanosine-5'-triphosphate,3'-diphosphate diphosphatase activity (GO:0008894)|nucleoside-triphosphatase activity (GO:0017111)|uridine-diphosphatase activity (GO:0045134)			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|prostate(1)|skin(1)	27						CCATCATGAACGGAACAGATG	0.463																																						ENST00000360031.2																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|prostate(1)|skin(1)	27						c.(655-657)aaC>aaT		ectonucleoside triphosphate diphosphohydrolase 6 (putative)		C	,	0,4406		0,0,2203	98	87	91		609,660	-3.5	1	20	dbSNP_134	91	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	ENTPD6	NM_001114089.1,NM_001247.2	,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,	203/468,220/485	25195565	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0					Golgi membrane|integral to membrane	nucleoside-diphosphatase activity	g.chr20:25195565C>T	AF039916	CCDS13170.1, CCDS46586.1	20p11.21	2010-06-24	2010-06-24		ENSG00000197586	ENSG00000197586			3368	protein-coding gene	gene with protein product		603160	"interleukin 6 signal transducer-2"	CD39L2, IL6ST2		9676430	Standard	NM_001247		Approved	NTPDase-6, dJ738P15.3	uc002wuj.2	O75354	OTTHUMG00000032116	ENST00000376652.4:c.660C>T	20.37:g.25195565C>T						ENTPD6_ENST00000376652.4_Silent_p.N220N|ENTPD6_ENST00000433259.2_Silent_p.N220N|ENTPD6_ENST00000354989.5_Silent_p.N203N	p.N219N	NM_001247.2	NP_001238.2	O75354	ENTP6_HUMAN			6	839	+			220					A6NCX6|D3DW49|Q5QPJ2|Q5QPJ5|Q7Z5B5|Q8N3H3|Q8TAS7|Q9UJD1	Silent	SNP	ENST00000376652.4	37	c.657C>T	CCDS13170.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	9.720|9.720	1.159331|1.159331	0.21454|0.21454	0.0|0.0	1.16E-4|1.16E-4	ENSG00000197586|ENSG00000197586	ENST00000376666|ENST00000433417;ENST00000427553;ENST00000447877	.|.	.|.	.|.	6.0|6.0	-3.51|-3.51	0.04696|0.04696	.|.	.|.	.|.	.|.	.|.	T|T	0.57359|0.57359	0.2048|0.2048	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.58115|0.58115	-0.7693|-0.7693	4|4	.|.	.|.	.|.	-1.8106|-1.8106	12.281|12.281	0.54762|0.54762	0.0:0.2715:0.0:0.7285|0.0:0.2715:0.0:0.7285	.|.	.|.	.|.	.|.	W|M	44|141;78;113	.|.	.|.	R|T	+|+	1|2	2|0	ENTPD6|ENTPD6	25143565|25143565	0.107000|0.107000	0.21998|0.21998	0.964000|0.964000	0.40570|0.40570	0.984000|0.984000	0.73092|0.73092	-0.884000|-0.884000	0.04166|0.04166	-0.446000|-0.446000	0.07149|0.07149	-0.192000|-0.192000	0.12808|0.12808	CGG|ACG		0.463	ENTPD6-020	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078414.2			4	63	0	0	0	0.150653	0	4	63					T	25195565	C	T	25195565	2	4	35	1	0	0	0	0	0	0	0	1	5143	535	19	1		1	ENTPD6	20	25195565	Silent	SNP	C	TCGA-CH-5769-01A-11D-1576-08	24930864	25195565	37829955	189	1926											
GRIK1	2897	broad.mit.edu	37	chr21	31062069	31062069	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtgctgtcttcatacaccaCtgtcactgttttccagttgt	6	17	7	11	0	3	0	2	0	1	0	4	0	4	0	2	0	2	3	2	0	1	5			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr21:31062069C>T	ENST00000399907.1	-	3	934	c.523G>A	c.(523-525)Gtg>Atg	p.V175M	GRIK1_ENST00000535441.1_Missense_Mutation_p.V175M|GRIK1_ENST00000309434.7_Missense_Mutation_p.V175M|GRIK1_ENST00000472429.1_5'UTR|GRIK1_ENST00000399914.1_Missense_Mutation_p.V175M|GRIK1_ENST00000399909.1_Missense_Mutation_p.V175M|GRIK1_ENST00000389124.2_Missense_Mutation_p.V175M|GRIK1_ENST00000389125.3_Missense_Mutation_p.V175M|GRIK1_ENST00000399913.1_Missense_Mutation_p.V175M|GRIK1_ENST00000327783.4_Missense_Mutation_p.V175M	NM_000830.3	NP_000821.1	P39086	GRIK1_HUMAN	glutamate receptor, ionotropic, kainate 1	175					adult behavior (GO:0030534)|behavioral response to pain (GO:0048266)|central nervous system development (GO:0007417)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|nervous system development (GO:0007399)|positive regulation of gamma-aminobutyric acid secretion (GO:0014054)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	extracellular-glutamate-gated ion channel activity (GO:0005234)|kainate selective glutamate receptor activity (GO:0015277)	p.V175M(2)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(18)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	45					Topiramate(DB00273)	TCATACACCACTGTCACTGTT	0.433																																						ENST00000399914.1																			2	Substitution - Missense(2)	p.V175M(2)	prostate(2)	NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(18)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	45						c.(523-525)Gtg>Atg		glutamate receptor, ionotropic, kainate 1	L-Glutamic Acid(DB00142)|Topiramate(DB00273)						216	207	210					21																	31062069		2203	4300	6503	SO:0001583	missense	2897				central nervous system development|synaptic transmission	cell junction|postsynaptic membrane	kainate selective glutamate receptor activity	g.chr21:31062069C>T		CCDS33530.1, CCDS42913.1	21q22	2012-08-29			ENSG00000171189	ENSG00000171189		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4579	protein-coding gene	gene with protein product		138245		GLUR5		8468067	Standard	XM_005260942		Approved	GluK1	uc002yno.1	P39086	OTTHUMG00000078879	ENST00000399907.1:c.523G>A	21.37:g.31062069C>T	ENSP00000382791:p.Val175Met					GRIK1_ENST00000399913.1_Missense_Mutation_p.V175M|GRIK1_ENST00000309434.7_Missense_Mutation_p.V175M|GRIK1_ENST00000399909.1_Missense_Mutation_p.V175M|GRIK1_ENST00000472429.1_5'UTR|GRIK1_ENST00000399907.1_Missense_Mutation_p.V175M|GRIK1_ENST00000389125.3_Missense_Mutation_p.V175M|GRIK1_ENST00000389124.2_Missense_Mutation_p.V175M|GRIK1_ENST00000327783.4_Missense_Mutation_p.V175M|GRIK1_ENST00000535441.1_Missense_Mutation_p.V175M	p.V175M			P39086	GRIK1_HUMAN			3	1044	-			175					Q13001|Q86SU9	Missense_Mutation	SNP	ENST00000399907.1	37	c.523G>A	CCDS42913.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.135923	0.77662	.	.	ENSG00000171189	ENST00000327783;ENST00000389125;ENST00000399913;ENST00000399914;ENST00000535441;ENST00000541508;ENST00000389124;ENST00000399907;ENST00000399909;ENST00000309434	D;D;D;D;D;D;D;D;D	0.84223	-1.82;-1.82;-1.82;-1.82;-1.82;-1.82;-1.82;-1.82;-1.82	5.02	4.13	0.48395	Extracellular ligand-binding receptor (1);	0.127164	0.53938	D	0.000057	D	0.91459	0.7304	M	0.75777	2.31	0.80722	D	1	D;D;D;D;D	0.89917	0.999;1.0;1.0;1.0;0.999	D;D;D;D;D	0.79108	0.992;0.992;0.992;0.992;0.97	D	0.92392	0.5922	10	0.72032	D	0.01	.	14.6144	0.68539	0.1469:0.8531:0.0:0.0	.	175;175;175;175;175	E7EPY9;E9PD61;B7Z3V7;P39086;P39086-2	.;.;.;GRIK1_HUMAN;.	M	175;175;175;175;175;119;175;175;175;175	ENSP00000327687:V175M;ENSP00000373777:V175M;ENSP00000382797:V175M;ENSP00000382798:V175M;ENSP00000446326:V175M;ENSP00000373776:V175M;ENSP00000382791:V175M;ENSP00000382793:V175M;ENSP00000311646:V175M	ENSP00000311646:V175M	V	-	1	0	GRIK1	29983940	1.000000	0.71417	0.858000	0.33744	0.959000	0.62525	5.532000	0.67154	1.313000	0.45069	0.655000	0.94253	GTG		0.433	GRIK1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000171979.1			20	226	0	0	0	0.557998	0	20	226					T	31062069	C	T	31062069	3	4	35	1	0	0	0	0	1	0	0	0	6773	565	20	3	2453	3	GRIK1	21	31062069	Missense_Mutation	SNP	C	TCGA-CH-5769-01A-11D-1576-08		31062069	17067826	190	1927											
ZNF295	49854	broad.mit.edu	37	chr21	43412180	43412180	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agaaagcggtacgcttttccGcagtaagtacaaatgtaagc	14	9	10	8	3	0	1	0	0	0	1	1	1	1	1	1	1	4	6	1	1	6	6	rs143540135		TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr21:43412180G>A	ENST00000310826.5	-	3	2208	c.2025C>T	c.(2023-2025)tgC>tgT	p.C675C	ZBTB21_ENST00000398511.3_Silent_p.C675C|ZBTB21_ENST00000398505.3_Intron|ZBTB21_ENST00000398499.1_Silent_p.C675C|ZBTB21_ENST00000465968.1_Intron	NM_001098402.1	NP_001091872.1	Q9ULJ3	ZBT21_HUMAN	zinc finger and BTB domain containing 21	675					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|methyl-CpG binding (GO:0008327)	p.C675C(1)									ACGCTTTTCCGCAGTAAGTAC	0.438													G|||	1	0.000199681	0	0	5008	,	,		20375	0.001		0	False		,,,				2504	0					ENST00000310826.5																			1	Substitution - coding silent(1)	p.C675C(1)	prostate(1)								c.(2023-2025)tgC>tgT		zinc finger and BTB domain containing 21							92	96	94					21																	43412180		2203	4300	6503	SO:0001819	synonymous_variant	49854							g.chr21:43412180G>A	AB033053	CCDS13678.1, CCDS42934.1	21q22.3	2013-01-09	2013-01-09	2013-01-09	ENSG00000173276	ENSG00000173276		"-", "BTB/POZ domain containing", "Zinc fingers, C2H2-type"	13083	protein-coding gene	gene with protein product			"zinc finger protein 295"	ZNF295			Standard	NM_020727		Approved	KIAA1227	uc002yzy.4	Q9ULJ3	OTTHUMG00000086789	ENST00000310826.5:c.2025C>T	21.37:g.43412180G>A						ZBTB21_ENST00000398511.3_Silent_p.C675C|ZBTB21_ENST00000465968.1_Intron|ZBTB21_ENST00000398505.3_Intron|ZBTB21_ENST00000398499.1_Silent_p.C675C	p.C675C	NM_001098402.1	NP_001091872.1					3	2208	-								Q5R2W1|Q5R2W2|Q6P4R0	Silent	SNP	ENST00000310826.5	37	c.2025C>T	CCDS13678.1																																																																																				0.438	ZBTB21-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195308.1	NM_020727		11	135	0	0	0	0.361761	0	11	135					A	43412180	G	A	43412180	2	1	35	1	0	0	0	0	0	0	0	1	17824	1079	38	1		1	ZNF295	21	43412180	Silent	SNP	G	TCGA-CH-5769-01A-11D-1576-08	12350111	43412180	4717715	191	1928											
CCDC157	550631	broad.mit.edu	37	chr22	30768247	30768247	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctggataaggagaaggcccGtgtcgacagcatggtccgcc	9	6	15	11	3	0	1	0	0	0	1	2	4	1	2	3	4	1	2	3	4	2	1			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr22:30768247G>A	ENST00000405659.1	+	7	2016	c.1307G>A	c.(1306-1308)cGt>cAt	p.R436H	RP1-130H16.16_ENST00000332468.4_RNA|CCDC157_ENST00000338306.3_Missense_Mutation_p.R436H			Q569K6	CC157_HUMAN	coiled-coil domain containing 157	436										central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(5)|skin(3)|upper_aerodigestive_tract(1)	15						GAGAAGGCCCGTGTCGACAGC	0.662																																						ENST00000405659.1																			0				central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(5)|skin(3)|upper_aerodigestive_tract(1)	15						c.(1306-1308)cGt>cAt		coiled-coil domain containing 157							15	17	16					22																	30768247		2200	4297	6497	SO:0001583	missense	550631							g.chr22:30768247G>A	BC018040	CCDS33632.2	22q12.2	2009-03-05			ENSG00000187860	ENSG00000187860			33854	protein-coding gene	gene with protein product							Standard	NM_001017437		Approved		uc011aku.2	Q569K6	OTTHUMG00000151007	ENST00000405659.1:c.1307G>A	22.37:g.30768247G>A	ENSP00000385357:p.Arg436His					CCDC157_ENST00000338306.3_Missense_Mutation_p.R436H	p.R436H			Q569K6	CC157_HUMAN			7	2016	+			436					Q0VD76|Q9BYA4	Missense_Mutation	SNP	ENST00000405659.1	37	c.1307G>A	CCDS33632.2	.	.	.	.	.	.	.	.	.	.	G	17.05	3.290525	0.59976	.	.	ENSG00000187860	ENST00000405659;ENST00000338306	T;T	0.37752	1.18;1.18	4.91	3.84	0.44239	.	0.191346	0.35207	N	0.003380	T	0.45498	0.1345	L	0.47716	1.5	0.80722	D	1	D	0.89917	1.0	D	0.69824	0.966	T	0.17776	-1.0358	10	0.30078	T	0.28	-15.1878	7.719	0.28721	0.1894:0.0:0.8106:0.0	.	436	Q569K6	CC157_HUMAN	H	436	ENSP00000385357:R436H;ENSP00000343087:R436H	ENSP00000343087:R436H	R	+	2	0	CCDC157	29098247	0.998000	0.40836	0.954000	0.39281	0.623000	0.37688	3.238000	0.51352	2.549000	0.85964	0.563000	0.77884	CGT		0.662	CCDC157-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000320936.1	NM_001017437		5	15	0	0	0	0.217242	0	5	15					A	30768247	G	A	30768247	3	1	35	1	0	0	0	0	1	0	0	0	2789	1145	40	1	1325	1	CCDC157	22	30768247	Missense_Mutation	SNP	G	TCGA-CH-5769-01A-11D-1576-08		30768247	20536319	192	1929											
DHRSX	207063	broad.mit.edu	37	chrX	2139237	2139237	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cagctctggggtgactgctgCgtagatggaagtccacgctc	7	9	14	11	2	1	2	0	1	1	1	3	3	2	3	1	3	3	4	1	3	2	1			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chrX:2139237C>T	ENST00000334651.5	-	7	890	c.838G>A	c.(838-840)Gca>Aca	p.A280T		NM_145177.2	NP_660160.2	Q8N5I4	DHRSX_HUMAN	dehydrogenase/reductase (SDR family) X-linked	280							oxidoreductase activity (GO:0016491)			endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)	16		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)				GTGACTGCTGCGTAGATGGAA	0.517													.|||	1	0.000199681	0	0	5008	,	,		21227	0		0.001	False		,,,				2504	0					ENST00000334651.5																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)	16						c.(838-840)Gca>Aca		dehydrogenase/reductase (SDR family) X-linked							213	189	197					X																	2139237		2203	4296	6499	SO:0001583	missense	207063						binding|oxidoreductase activity	g.chrX:2139237C>T	AJ293620	CCDS35195.1	Xp22.33 and Yp11.2	2014-05-07	2003-09-12		ENSG00000169084	ENSG00000169084		"Pseudoautosomal regions / PAR1"	18399	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 7C, member 6", "short chain dehydrogenase/reductase family 46C, member 1", "dehydrogenase/reductase (SDR family) Y-linked"		"dehydrogenase/reductase (SDR family) X chromosome"			11731500, 19027726	Standard	NM_145177		Approved	DHRS5X, DHRSXY, DHRSY, DHRS5Y, SDR46C1, SDR7C6	uc004cqf.4	Q8N5I4	OTTHUMG00000021068	ENST00000334651.5:c.838G>A	X.37:g.2139237C>T	ENSP00000334113:p.Ala280Thr						p.A280T	NM_145177.2	NP_660160.2	Q8N5I4	DHRSX_HUMAN			7	890	-		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)	280					Q6UWC7|Q8WUS4|Q96GR8|Q9NTF6	Missense_Mutation	SNP	ENST00000334651.5	37	c.838G>A	CCDS35195.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	c	12.87	2.066335	0.36470	.	.	ENSG00000169084	ENST00000334651	T	0.63744	-0.06	2.32	2.32	0.28847	NAD(P)-binding domain (1);	0.000000	0.64402	U	0.000005	T	0.79986	0.4541	M	0.89785	3.06	0.18873	N	0.999987	D	0.89917	1.0	D	0.91635	0.999	T	0.70536	-0.4845	10	0.41790	T	0.15	.	11.6281	0.51158	0.0:1.0:0.0:0.0	.	280	Q8N5I4	DHRSX_HUMAN	T	280	ENSP00000334113:A280T	ENSP00000334113:A280T	A	-	1	0	DHRSX	2149237	1.000000	0.71417	0.005000	0.12908	0.018000	0.09664	3.943000	0.56621	0.956000	0.37904	0.124000	0.15798	GCA		0.517	DHRSX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055617.3	NM_145177		5	185	0	0	0	0.217242	0	5	185					T	2139237	C	T	2139237	3	4	35	1	0	0	0	0	1	0	0	0	4499	768	27	1	158	1	DHRSX	23	2139237	Missense_Mutation	SNP	C	TCGA-CH-5769-01A-11D-1576-08		2139237	153131323	193	1930											
DHRSX	207063	broad.mit.edu	37	chrX	2184932	2184932	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgccctaggtagttcaggcCgaaatgttcttcgaatccat	9	12	10	10	2	2	0	1	0	1	0	4	2	3	0	3	2	1	3	3	2	4	5			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chrX:2184932C>T	ENST00000334651.5	-	5	497	c.445G>A	c.(445-447)Ggc>Agc	p.G149S	DHRSX_ENST00000464935.1_5'UTR	NM_145177.2	NP_660160.2	Q8N5I4	DHRSX_HUMAN	dehydrogenase/reductase (SDR family) X-linked	149							oxidoreductase activity (GO:0016491)			endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)	16		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)				TAGTTCAGGCCGAAATGTTCT	0.527													.|||	1	0.000199681	0	0	5008	,	,		20731	0.001		0	False		,,,				2504	0					ENST00000334651.5																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)	16						c.(445-447)Ggc>Agc		dehydrogenase/reductase (SDR family) X-linked							413	363	380					X																	2184932		2203	4296	6499	SO:0001583	missense	207063						binding|oxidoreductase activity	g.chrX:2184932C>T	AJ293620	CCDS35195.1	Xp22.33 and Yp11.2	2014-05-07	2003-09-12		ENSG00000169084	ENSG00000169084		"Pseudoautosomal regions / PAR1"	18399	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 7C, member 6", "short chain dehydrogenase/reductase family 46C, member 1", "dehydrogenase/reductase (SDR family) Y-linked"		"dehydrogenase/reductase (SDR family) X chromosome"			11731500, 19027726	Standard	NM_145177		Approved	DHRS5X, DHRSXY, DHRSY, DHRS5Y, SDR46C1, SDR7C6	uc004cqf.4	Q8N5I4	OTTHUMG00000021068	ENST00000334651.5:c.445G>A	X.37:g.2184932C>T	ENSP00000334113:p.Gly149Ser					DHRSX_ENST00000464935.1_5'UTR	p.G149S	NM_145177.2	NP_660160.2	Q8N5I4	DHRSX_HUMAN			5	497	-		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)	149					Q6UWC7|Q8WUS4|Q96GR8|Q9NTF6	Missense_Mutation	SNP	ENST00000334651.5	37	c.445G>A	CCDS35195.1	.	.	.	.	.	.	.	.	.	.	C	15.03	2.713290	0.48517	.	.	ENSG00000169084	ENST00000334651;ENST00000412516;ENST00000444280	T;T;T	0.21543	2.0;2.0;2.0	2.11	2.11	0.27256	NAD(P)-binding domain (1);	0.376135	0.25750	U	0.028549	T	0.40272	0.1110	M	0.67625	2.065	0.22500	N	0.999046	D	0.89917	1.0	D	0.68039	0.955	T	0.17410	-1.0370	10	0.87932	D	0	.	12.246	0.54571	0.0:1.0:0.0:0.0	.	149	Q8N5I4	DHRSX_HUMAN	S	149;126;82	ENSP00000334113:G149S;ENSP00000391778:G126S;ENSP00000402741:G82S	ENSP00000334113:G149S	G	-	1	0	DHRSX	2194932	0.009000	0.17119	0.882000	0.34594	0.715000	0.41141	0.864000	0.27926	0.856000	0.35383	0.272000	0.19324	GGC		0.527	DHRSX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055617.3	NM_145177		23	253	0	0	0	0.667858	0	23	253					T	2184932	C	T	2184932	3	4	35	1	0	0	0	0	1	0	0	0	4499	652	23	2	559	2	DHRSX	23	2184932	Missense_Mutation	SNP	C	TCGA-CH-5769-01A-11D-1576-08	45695	2184932	153085628	194	1931											
FLNA	2316	broad.mit.edu	37	chrX	153587627	153587627	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tcctcacctggcacttgatgGccaccataggtgacgttgag	8	10	11	12	1	1	3	1	3	0	0	2	3	2	3	4	3	0	2	4	3	1	3			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chrX:153587627G>A	ENST00000369850.3	-	25	4526	c.4290C>T	c.(4288-4290)ggC>ggT	p.G1430G	FLNA_ENST00000344736.4_Silent_p.G1430G|FLNA_ENST00000360319.4_Silent_p.G1430G|FLNA_ENST00000422373.1_Silent_p.G1430G|FLNA_ENST00000369856.3_5'Flank	NM_001110556.1	NP_001104026.1	P21333	FLNA_HUMAN	filamin A, alpha	1430					actin crosslink formation (GO:0051764)|actin cytoskeleton reorganization (GO:0031532)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|blood coagulation (GO:0007596)|cell junction assembly (GO:0034329)|cilium assembly (GO:0042384)|cytoplasmic sequestering of protein (GO:0051220)|early endosome to late endosome transport (GO:0045022)|epithelial to mesenchymal transition (GO:0001837)|establishment of protein localization (GO:0045184)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of transcription factor import into nucleus (GO:0042993)|protein localization to cell surface (GO:0034394)|protein stabilization (GO:0050821)|receptor clustering (GO:0043113)|spindle assembly involved in mitosis (GO:0090307)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|apical dendrite (GO:0097440)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|Myb complex (GO:0031523)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	actin filament binding (GO:0051015)|Fc-gamma receptor I complex binding (GO:0034988)|glycoprotein binding (GO:0001948)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|Rac GTPase binding (GO:0048365)|Ral GTPase binding (GO:0017160)|Rho GTPase binding (GO:0017048)|signal transducer activity (GO:0004871)|small GTPase binding (GO:0031267)|transcription factor binding (GO:0008134)	p.G1430G(2)		breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GCACTTGATGGCCACCATAGG	0.612																																						ENST00000422373.1																			2	Substitution - coding silent(2)	p.G1430G(2)	prostate(2)	breast(6)	6						c.(4288-4290)ggC>ggT		filamin A, alpha							53	58	56					X																	153587627		2128	4220	6348	SO:0001819	synonymous_variant	0				actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding	g.chrX:153587627G>A	X70082	CCDS44021.1, CCDS48194.1	Xq28	2009-07-23	2009-07-23		ENSG00000196924	ENSG00000196924			3754	protein-coding gene	gene with protein product	"actin binding protein 280"	300017	"filamin A, alpha (actin binding protein 280)"	FLN1, FLN, OPD2, OPD1		8406501, 12612583	Standard	NM_001456		Approved	ABP-280	uc004fkk.2	P21333	OTTHUMG00000022712	ENST00000369850.3:c.4290C>T	X.37:g.153587627G>A						FLNA_ENST00000369850.3_Silent_p.G1430G|FLNA_ENST00000344736.4_Silent_p.G1430G|FLNA_ENST00000360319.4_Silent_p.G1430G	p.G1430G	NM_001456.3	NP_001447.2	P21333	FLNA_HUMAN			25	4538	-	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)		1430					E9KL45|Q5HY53|Q5HY55|Q8NF52	Silent	SNP	ENST00000369850.3	37	c.4290C>T	CCDS48194.1																																																																																				0.612	FLNA-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058942.3			9	69	0	0	0	0.361761	0	9	69					A	153587627	G	A	153587627	2	1	35	1	0	0	0	0	0	0	0	1	5933	1190	42	3		3	FLNA	23	153587627	Silent	SNP	G	TCGA-CH-5769-01A-11D-1576-08	151402695	153587627	1682933	195	1932											
PRAMEF7	441871	broad.mit.edu	37	chr1	12979764	12979764	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcttggtgcccgagcatccGtcaattaaaggagctggacc	9	9	11	12	2	2	0	1	0	1	0	3	3	3	2	3	3	3	2	3	3	3	2	rs369932937		TCGA-CH-5771-01A-21D-1576-08	TCGA-CH-5771-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87e1ffee-a8cd-4d75-937e-ed415cf43546	d75f9a49-dfc3-493b-b9dd-4940d9803cfd	g.chr1:12979764G>A	ENST00000361079.2	+	4	1039	c.956G>A	c.(955-957)cGt>cAt	p.R319H	RNU6-1072P_ENST00000384703.1_RNA			Q5VXH5	PRAM7_HUMAN	PRAME family member 7	319					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)			p.R319H(2)		endometrium(2)|kidney(5)|large_intestine(3)|lung(4)|prostate(2)|upper_aerodigestive_tract(2)	18	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		CCGAGCATCCGTCAATTAAAG	0.587																																						ENST00000361079.2																			2	Substitution - Missense(2)	p.R319H(2)	prostate(2)	endometrium(2)|kidney(5)|large_intestine(3)|lung(4)|prostate(2)|upper_aerodigestive_tract(2)	18						c.(955-957)cGt>cAt		PRAME family member 7		G	HIS/ARG	1,4403		0,1,2201	89	82	85		956	-0.3	0	1		85	0,8592		0,0,4296	no	missense	PRAMEF7	NM_001012277.1	29	0,1,6497	AA,AG,GG		0.0,0.0227,0.0077	possibly-damaging	319/475	12979764	1,12995	2202	4296	6498	SO:0001583	missense	441871							g.chr1:12979764G>A		CCDS30593.1	1p36.21	2013-01-17			ENSG00000204510	ENSG00000204510		"-"	28415	protein-coding gene	gene with protein product							Standard	NM_001012277		Approved			Q5VXH5	OTTHUMG00000001982	ENST00000361079.2:c.956G>A	1.37:g.12979764G>A	ENSP00000354371:p.Arg319His						p.R319H						UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)	4	1039	+	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)						B9EIP0	Missense_Mutation	SNP	ENST00000361079.2	37	c.956G>A	CCDS30593.1	.	.	.	.	.	.	.	.	.	.	.	10.93	1.490801	0.26774	2.27E-4	0.0	ENSG00000204510	ENST00000361079;ENST00000330881	T;T	0.09255	3.0;3.0	1.68	-0.352	0.12598	.	0.979768	0.08388	N	0.953488	T	0.09992	0.0245	N	0.15975	0.35	0.09310	N	1	D	0.76494	0.999	P	0.61132	0.884	T	0.23547	-1.0185	10	0.15499	T	0.54	.	1.9777	0.03419	0.3601:0.0:0.3772:0.2627	.	319	Q5VXH5	PRAM7_HUMAN	H	319	ENSP00000354371:R319H;ENSP00000328915:R319H	ENSP00000328915:R319H	R	+	2	0	PRAMEF7	12902351	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-0.739000	0.04866	-0.101000	0.12219	0.306000	0.20318	CGT		0.587	PRAMEF7-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001012277		8	309	0	0	0	0.307466	0	8	309					A	12979764	G	A	12979764	3	1	36	1	0	0	0	0	1	0	0	0	12439	1145	40	1	966	1	PRAMEF7	1	12979764	Missense_Mutation	SNP	G	TCGA-CH-5771-01A-21D-1576-08		12979764	236270857	1	1933											
CSMD2	114784	broad.mit.edu	37	chr1	34112373	34112373	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	catagaagcttcctatgagaGggctgagagagtcccgtccg	10	8	13	10	2	0	4	0	2	0	3	3	6	3	4	3	1	1	2	3	1	3	3			TCGA-CH-5771-01A-21D-1576-08	TCGA-CH-5771-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87e1ffee-a8cd-4d75-937e-ed415cf43546	d75f9a49-dfc3-493b-b9dd-4940d9803cfd	g.chr1:34112373G>A	ENST00000373380.1	-	8	1488	c.1268C>T	c.(1267-1269)cCt>cTt	p.P423L	CSMD2_ENST00000373388.2_5'UTR|CSMD2_ENST00000373381.4_Missense_Mutation_p.P1550L			Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	1510	CUB 3. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.P1510L(1)		NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				TCCTATGAGAGGGCTGAGAGA	0.562																																						ENST00000373381.4																			1	Substitution - Missense(1)	p.P1510L(1)	prostate(1)	NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246						c.(4648-4650)cCt>cTt		CUB and Sushi multiple domains 2							55	53	54					1																	34112373		2203	4300	6503	SO:0001583	missense	114784					integral to membrane|plasma membrane	protein binding	g.chr1:34112373G>A	AY210418	CCDS380.1, CCDS60082.1	1p34.3	2014-01-28			ENSG00000121904	ENSG00000121904			19290	protein-coding gene	gene with protein product		608398				11472063, 11572484	Standard	NM_001281956		Approved	KIAA1884	uc001bxn.1	Q7Z408	OTTHUMG00000011135	ENST00000373380.1:c.1268C>T	1.37:g.34112373G>A	ENSP00000362478:p.Pro423Leu					CSMD2_ENST00000373380.1_Missense_Mutation_p.P423L|CSMD2_ENST00000373388.2_5'UTR	p.P1550L	NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN			29	4825	-		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)	1510			CUB 9.		B1AM50|E7EUA6|Q53TY4|Q5VT59|Q8N963|Q96Q03|Q9H4V7|Q9H4V8|Q9H4V9|Q9H4W0|Q9H4W1|Q9H4W2|Q9H4W3|Q9H4W4|Q9HCY5|Q9HCY6|Q9HCY7	Missense_Mutation	SNP	ENST00000373380.1	37	c.4649C>T		.	.	.	.	.	.	.	.	.	.	G	34	5.317123	0.95682	.	.	ENSG00000121904	ENST00000373381;ENST00000373380	T;T	0.32272	1.46;1.46	5.95	5.95	0.96441	CUB (5);	0.000000	0.85682	D	0.000000	T	0.50582	0.1624	M	0.64170	1.965	0.80722	D	1	D;D;D	0.67145	0.97;0.996;0.996	P;D;D	0.70487	0.844;0.969;0.938	T	0.31641	-0.9936	10	0.07990	T	0.79	.	19.3735	0.94500	0.0:0.0:1.0:0.0	.	423;1510;1550	Q7Z408-2;Q7Z408;E7EUA6	.;CSMD2_HUMAN;.	L	1550;423	ENSP00000362479:P1550L;ENSP00000362478:P423L	ENSP00000241312:P1510L	P	-	2	0	CSMD2	33884960	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	9.869000	0.99810	2.825000	0.97269	0.655000	0.94253	CCT		0.562	CSMD2-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000030635.4	NM_052896		4	35	0	0	0	0.150653	0	4	35					A	34112373	G	A	34112373	3	1	36	1	0	0	0	0	1	0	0	0	3945	1000	35	3	6098	3	CSMD2	1	34112373	Missense_Mutation	SNP	G	TCGA-CH-5771-01A-21D-1576-08	21132609	34112373	215138248	2	1934											
KIAA0319L	79932	broad.mit.edu	37	chr1	35915489	35915489	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggtttcacctccacagtggTccggtctgtgtcactctcac	6	12	9	14	1	4	0	3	0	2	0	7	0	6	0	3	3	0	1	3	3	0	1			TCGA-CH-5771-01A-21D-1576-08	TCGA-CH-5771-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87e1ffee-a8cd-4d75-937e-ed415cf43546	d75f9a49-dfc3-493b-b9dd-4940d9803cfd	g.chr1:35915489T>C	ENST00000325722.3	-	15	2566	c.2332A>G	c.(2332-2334)Acc>Gcc	p.T778A	KIAA0319L_ENST00000373266.4_Missense_Mutation_p.T215A|KIAA0319L_ENST00000485551.1_5'UTR	NM_024874.4	NP_079150.3	Q8IZA0	K319L_HUMAN	KIAA0319-like	778	PKD 5. {ECO:0000255|PROSITE- ProRule:PRU00151}.					cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)		p.T778A(2)		breast(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(12)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	34		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				TCCACAGTGGTCCGGTCTGTG	0.488																																						ENST00000325722.3																			2	Substitution - Missense(2)	p.T778A(2)	prostate(2)	breast(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(12)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	34						c.(2332-2334)Acc>Gcc		KIAA0319-like							155	113	128					1																	35915489		2203	4300	6503	SO:0001583	missense	79932					cytoplasmic vesicle part|integral to membrane	protein binding	g.chr1:35915489T>C	AY163234	CCDS390.1	1p34.3	2008-10-24			ENSG00000142687	ENSG00000142687			30071	protein-coding gene	gene with protein product		613535				11347906	Standard	NM_024874		Approved	KIAA1837	uc001byx.3	Q8IZA0	OTTHUMG00000004370	ENST00000325722.3:c.2332A>G	1.37:g.35915489T>C	ENSP00000318406:p.Thr778Ala					KIAA0319L_ENST00000373266.4_Missense_Mutation_p.T215A|KIAA0319L_ENST00000485551.1_5'UTR	p.T778A	NM_024874.4	NP_079150.3	Q8IZA0	K319L_HUMAN			15	2566	-		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)	778			PKD 5.		B1AN13|D3DPR8|O95010|Q6PJJ7|Q7L1C9|Q8N2B3|Q8NDA0|Q8WY39|Q8WYZ5|Q96IC3|Q96JJ0|Q9BUW6|Q9H7V0	Missense_Mutation	SNP	ENST00000325722.3	37	c.2332A>G	CCDS390.1	.	.	.	.	.	.	.	.	.	.	T	3.554	-0.091023	0.07053	.	.	ENSG00000142687	ENST00000325722;ENST00000373266;ENST00000426982	T;T;T	0.69040	2.62;-0.37;2.62	5.82	0.908	0.19326	PKD/Chitinase domain (1);PKD/REJ-like protein (1);PKD domain (2);	0.304486	0.42420	N	0.000710	T	0.36413	0.0966	N	0.05534	-0.03	0.80722	D	1	B;B;B	0.06786	0.001;0.001;0.0	B;B;B	0.06405	0.002;0.002;0.001	T	0.34304	-0.9834	10	0.02654	T	1	-1.4002	9.0391	0.36307	0.0:0.3844:0.0:0.6156	.	778;778;220	Q8IZA0-2;Q8IZA0;Q8IZA0-3	.;K319L_HUMAN;.	A	778;215;778	ENSP00000318406:T778A;ENSP00000362363:T215A;ENSP00000395883:T778A	ENSP00000318406:T778A	T	-	1	0	KIAA0319L	35688076	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	1.538000	0.36094	-0.082000	0.12640	0.533000	0.62120	ACC		0.488	KIAA0319L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012684.2	NM_024874		22	154	0	0	0	0.608945	0	22	154					C	35915489	T	C	35915489	3	2	36	1	0	0	0	0	1	0	0	0	8169	1667	58	4	845	4	KIAA0319L	1	35915489	Missense_Mutation	SNP	T	TCGA-CH-5771-01A-21D-1576-08	1803116	35915489	213335132	3	1935											
SF3A3	10946	broad.mit.edu	37	chr1	38442585	38442585	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctctacatattcatagatctGggcttctagaaaagcaatgt	13	13	7	8	0	4	2	1	0	3	2	4	2	4	2	0	1	2	2	0	1	7	6			TCGA-CH-5771-01A-21D-1576-08	TCGA-CH-5771-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87e1ffee-a8cd-4d75-937e-ed415cf43546	d75f9a49-dfc3-493b-b9dd-4940d9803cfd	g.chr1:38442585G>T	ENST00000373019.4	-	12	1931	c.976C>A	c.(976-978)Cag>Aag	p.Q326K	SF3A3_ENST00000489537.1_5'Flank|SF3A3_ENST00000448721.2_Missense_Mutation_p.Q273K	NM_006802.2	NP_006793.1	Q12874	SF3A3_HUMAN	splicing factor 3a, subunit 3, 60kDa	326					gene expression (GO:0010467)|mRNA 3'-splice site recognition (GO:0000389)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(3)|prostate(2)	12	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				TCATAGATCTGGGCTTCTAGA	0.403																																						ENST00000373019.4																			0				breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(3)|prostate(2)	12						c.(976-978)Cag>Aag		splicing factor 3a, subunit 3, 60kDa							147	148	148					1																	38442585		2202	4300	6502	SO:0001583	missense	10946				nuclear mRNA 3'-splice site recognition	catalytic step 2 spliceosome|nuclear speck	nucleic acid binding|protein binding|zinc ion binding	g.chr1:38442585G>T	U08815	CCDS428.1	1p34.3	2012-06-07	2002-08-29		ENSG00000183431	ENSG00000183431			10767	protein-coding gene	gene with protein product		605596	"splicing factor 3a, subunit 3, 60kD"			7816610, 8022796	Standard	NM_006802		Approved	SF3a60, SAP61, PRP9, PRPF9	uc001cci.3	Q12874	OTTHUMG00000004438	ENST00000373019.4:c.976C>A	1.37:g.38442585G>T	ENSP00000362110:p.Gln326Lys					SF3A3_ENST00000448721.2_Missense_Mutation_p.Q273K	p.Q326K	NM_006802.2	NP_006793.1	Q12874	SF3A3_HUMAN			12	1931	-	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)	326					D3DPT5|Q15460|Q5VT87	Missense_Mutation	SNP	ENST00000373019.4	37	c.976C>A	CCDS428.1	.	.	.	.	.	.	.	.	.	.	G	11.33	1.608328	0.28623	.	.	ENSG00000183431	ENST00000373019;ENST00000448721	.	.	.	5.69	5.69	0.88448	Domain of unknown function DUF3449 (1);	0.111433	0.64402	D	0.000006	T	0.40196	0.1107	N	0.13299	0.325	0.58432	D	0.999999	B;B	0.28128	0.001;0.201	B;B	0.28385	0.004;0.089	T	0.36625	-0.9740	9	0.02654	T	1	-14.2306	19.4634	0.94929	0.0:0.0:1.0:0.0	.	273;326	E7EUT8;Q12874	.;SF3A3_HUMAN	K	326;273	.	ENSP00000362110:Q326K	Q	-	1	0	SF3A3	38215172	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	9.365000	0.97139	2.715000	0.92844	0.585000	0.79938	CAG		0.403	SF3A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012976.1	NM_006802		28	185	1	0	1.88708e-17	0.729181	2.51611e-17	28	185					T	38442585	G	T	38442585	3	4	36	1	0	0	0	0	1	0	0	0	14148	1357	47	5	553	5	SF3A3	1	38442585	Missense_Mutation	SNP	G	TCGA-CH-5771-01A-21D-1576-08	2527096	38442585	210808036	4	1936											
ZFYVE9	9372	broad.mit.edu	37	chr1	52704167	52704167	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atgactgtgaacggtgttcaGattgccttgtgcctaatgaa	10	13	11	7	1	1	4	1	3	0	1	1	4	1	4	2	1	3	1	2	1	3	4			TCGA-CH-5771-01A-21D-1576-08	TCGA-CH-5771-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87e1ffee-a8cd-4d75-937e-ed415cf43546	d75f9a49-dfc3-493b-b9dd-4940d9803cfd	g.chr1:52704167G>C	ENST00000371591.1	+	3	1209	c.1078G>C	c.(1078-1080)Gat>Cat	p.D360H	ZFYVE9_ENST00000357206.2_Missense_Mutation_p.D360H|ZFYVE9_ENST00000287727.3_Missense_Mutation_p.D360H	NM_004799.2|NM_007324.2	NP_004790.2|NP_015563.2	O95405	ZFYV9_HUMAN	zinc finger, FYVE domain containing 9	360					endocytosis (GO:0006897)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|proteolysis (GO:0006508)|SMAD protein complex assembly (GO:0007183)|SMAD protein import into nucleus (GO:0007184)|transforming growth factor beta receptor signaling pathway (GO:0007179)	early endosome (GO:0005769)|early endosome membrane (GO:0031901)	1-phosphatidylinositol binding (GO:0005545)|metal ion binding (GO:0046872)|serine-type peptidase activity (GO:0008236)	p.D360H(1)		breast(1)|central_nervous_system(4)|endometrium(3)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	53						ACGGTGTTCAGATTGCCTTGT	0.428																																						ENST00000287727.3																			1	Substitution - Missense(1)	p.D360H(1)	prostate(1)	breast(1)|central_nervous_system(4)|endometrium(3)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	53						c.(1078-1080)Gat>Cat		zinc finger, FYVE domain containing 9							127	115	119					1																	52704167		2203	4300	6503	SO:0001583	missense	9372				endocytosis|SMAD protein complex assembly|SMAD protein import into nucleus|transforming growth factor beta receptor signaling pathway	early endosome membrane	metal ion binding|protein binding|receptor activity|serine-type peptidase activity	g.chr1:52704167G>C	AF104304	CCDS563.1, CCDS564.1	1p32.3	2014-06-13	2004-05-21	2004-05-26	ENSG00000157077	ENSG00000157077		"Zinc fingers, FYVE domain containing"	6775	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 173"	603755	"MAD, mothers against decapentaplegic homolog (Drosophila) interacting protein, receptor activation anchor"	MADHIP		9865696	Standard	NM_007324		Approved	SMADIP, SARA, PPP1R173	uc001cto.4	O95405	OTTHUMG00000008061	ENST00000371591.1:c.1078G>C	1.37:g.52704167G>C	ENSP00000360647:p.Asp360His					ZFYVE9_ENST00000361625.1_Missense_Mutation_p.D360H|ZFYVE9_ENST00000371591.1_Missense_Mutation_p.D360H|ZFYVE9_ENST00000357206.2_Missense_Mutation_p.D360H	p.D360H	NM_004799.2	NP_004790.2	O95405	ZFYV9_HUMAN			4	1250	+			360					Q5T0F6|Q5T0F7|Q9UNE1|Q9Y5R7	Missense_Mutation	SNP	ENST00000371591.1	37	c.1078G>C	CCDS563.1	.	.	.	.	.	.	.	.	.	.	G	7.706	0.694215	0.15039	.	.	ENSG00000157077	ENST00000357206;ENST00000361625;ENST00000287727;ENST00000371591	T;T;T;T	0.54279	0.58;0.58;0.58;0.58	4.88	2.86	0.33363	.	0.315721	0.25997	N	0.026967	T	0.50616	0.1626	N	0.19112	0.55	0.09310	N	1	D;P;D	0.89917	0.958;0.93;1.0	P;P;D	0.69479	0.66;0.635;0.964	T	0.28267	-1.0049	10	0.72032	D	0.01	.	5.8759	0.18828	0.1794:0.0:0.6535:0.1671	.	360;360;360	O95405-2;O95405;O95405-3	.;ZFYV9_HUMAN;.	H	360	ENSP00000349737:D360H;ENSP00000355358:D360H;ENSP00000287727:D360H;ENSP00000360647:D360H	ENSP00000287727:D360H	D	+	1	0	ZFYVE9	52476755	1.000000	0.71417	1.000000	0.80357	0.254000	0.26022	2.465000	0.45075	1.291000	0.44653	0.655000	0.94253	GAT		0.428	ZFYVE9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022083.1	NM_007324		17	206	0	0	0	0.557998	0	17	206					C	52704167	G	C	52704167	3	2	36	1	0	0	0	0	1	0	0	0	17668	942	33	5	1084	5	ZFYVE9	1	52704167	Missense_Mutation	SNP	G	TCGA-CH-5771-01A-21D-1576-08	14261582	52704167	196546454	5	1937											
SEMA4A	64218	broad.mit.edu	37	chr1	156131152	156131152	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cccagaatgacgtgggcggcGaaaagctgctgcagaagaag	13	4	15	9	3	0	4	0	1	0	3	0	5	0	4	1	2	3	3	1	2	5	0			TCGA-CH-5771-01A-21D-1576-08	TCGA-CH-5771-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87e1ffee-a8cd-4d75-937e-ed415cf43546	d75f9a49-dfc3-493b-b9dd-4940d9803cfd	g.chr1:156131152G>A	ENST00000368285.3	+	9	1093	c.826G>A	c.(826-828)Gaa>Aaa	p.E276K	SEMA4A_ENST00000368282.1_Missense_Mutation_p.E276K|SEMA4A_ENST00000368284.1_Missense_Mutation_p.E144K|SEMA4A_ENST00000368286.2_Missense_Mutation_p.E144K|SEMA4A_ENST00000487358.1_3'UTR|SEMA4A_ENST00000355014.2_Missense_Mutation_p.E276K	NM_001193300.1|NM_022367.3	NP_001180229.1|NP_071762.2	Q9H3S1	SEM4A_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4A	276	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|negative regulation of angiogenesis (GO:0016525)|regulation of cell shape (GO:0008360)|regulation of endothelial cell migration (GO:0010594)|semaphorin-plexin signaling pathway (GO:0071526)|T-helper 1 cell differentiation (GO:0045063)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)	p.E276K(1)		breast(1)|ovary(2)|skin(2)	5	Hepatocellular(266;0.158)					CGTGGGCGGCGAAAAGCTGCT	0.726																																						ENST00000368285.3																			1	Substitution - Missense(1)	p.E276K(1)	prostate(1)	breast(1)|ovary(2)|skin(2)	5						c.(826-828)Gaa>Aaa		sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4A							36	35	35					1																	156131152		2203	4300	6503	SO:0001583	missense	64218				axon guidance	integral to membrane|plasma membrane	receptor activity	g.chr1:156131152G>A	AK022416	CCDS1132.1, CCDS53378.1	1q22	2014-01-28			ENSG00000196189	ENSG00000196189		"Semaphorins"	10729	protein-coding gene	gene with protein product		607292		SEMAB		7748561	Standard	NM_022367		Approved	SemB, FLJ12287, CORD10	uc009wrq.3	Q9H3S1	OTTHUMG00000014042	ENST00000368285.3:c.826G>A	1.37:g.156131152G>A	ENSP00000357268:p.Glu276Lys					SEMA4A_ENST00000487358.1_3'UTR|SEMA4A_ENST00000355014.2_Missense_Mutation_p.E276K|SEMA4A_ENST00000368286.2_Missense_Mutation_p.E144K|SEMA4A_ENST00000368282.1_Missense_Mutation_p.E276K|SEMA4A_ENST00000368284.1_Missense_Mutation_p.E144K	p.E276K	NM_001193300.1|NM_022367.3	NP_001180229.1|NP_071762.2	Q9H3S1	SEM4A_HUMAN			9	1093	+	Hepatocellular(266;0.158)		276			Sema.		B2RDH8|B3KR76|Q5TCI5|Q5TCJ6|Q8WUA9	Missense_Mutation	SNP	ENST00000368285.3	37	c.826G>A	CCDS1132.1	.	.	.	.	.	.	.	.	.	.	G	29.8	5.034904	0.93575	.	.	ENSG00000196189	ENST00000435124;ENST00000414683;ENST00000355014;ENST00000368285;ENST00000368284;ENST00000368283;ENST00000544376;ENST00000368286;ENST00000368282	T;T;T;T;T;T;T	0.10573	2.86;2.86;2.86;2.86;2.86;2.86;2.86	5.42	5.42	0.78866	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.330856	0.31156	N	0.008149	T	0.09730	0.0239	L	0.35644	1.08	0.58432	D	0.999993	D;P	0.53312	0.959;0.916	P;P	0.51974	0.686;0.612	T	0.23511	-1.0186	10	0.25106	T	0.35	.	17.7936	0.88562	0.0:0.0:1.0:0.0	.	144;276	Q5TCJ6;Q9H3S1	.;SEM4A_HUMAN	K	276;177;276;276;144;238;238;144;276	ENSP00000401391:E276K;ENSP00000399230:E177K;ENSP00000347117:E276K;ENSP00000357268:E276K;ENSP00000357267:E144K;ENSP00000357269:E144K;ENSP00000357265:E276K	ENSP00000347117:E276K	E	+	1	0	SEMA4A	154397776	1.000000	0.71417	0.881000	0.34555	0.551000	0.35334	6.211000	0.72182	2.535000	0.85469	0.455000	0.32223	GAA		0.726	SEMA4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039484.2	NM_022367		10	59	0	0	0	0.335167	0	10	59					A	156131152	G	A	156131152	3	1	36	1	0	0	0	0	1	0	0	0	14031	1059	37	2	856	2	SEMA4A	1	156131152	Missense_Mutation	SNP	G	TCGA-CH-5771-01A-21D-1576-08	103426985	156131152	93119469	6	1938											
TNN	63923	broad.mit.edu	37	chr1	175046577	175046577	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gagtctccaggagatgttccGcttccctatggggctcctgc	5	11	12	13	1	1	1	0	0	1	1	5	3	4	1	4	3	1	3	4	3	1	3			TCGA-CH-5771-01A-21D-1576-08	TCGA-CH-5771-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87e1ffee-a8cd-4d75-937e-ed415cf43546	d75f9a49-dfc3-493b-b9dd-4940d9803cfd	g.chr1:175046577G>A	ENST00000239462.4	+	2	136	c.23G>A	c.(22-24)cGc>cAc	p.R8H		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	8					axonogenesis (GO:0007409)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)	cell surface (GO:0009986)|proteinaceous extracellular matrix (GO:0005578)		p.R8H(1)		NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		GAGATGTTCCGCTTCCCTATG	0.572																																						ENST00000239462.4																			1	Substitution - Missense(1)	p.R8H(1)	prostate(1)	NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156						c.(22-24)cGc>cAc		tenascin N							83	89	87					1																	175046577		2203	4298	6501	SO:0001583	missense	63923				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix		g.chr1:175046577G>A	AK127044	CCDS30943.1	1q23-q24	2013-02-11			ENSG00000120332	ENSG00000120332		"Fibrinogen C domain containing", "Fibronectin type III domain containing"	22942	protein-coding gene	gene with protein product							Standard	NM_022093		Approved		uc001gkl.1	Q9UQP3	OTTHUMG00000034882	ENST00000239462.4:c.23G>A	1.37:g.175046577G>A	ENSP00000239462:p.Arg8His						p.R8H	NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)	2	136	+		Breast(1374;0.000962)	8					B9EGP3|Q5R360	Missense_Mutation	SNP	ENST00000239462.4	37	c.23G>A	CCDS30943.1	.	.	.	.	.	.	.	.	.	.	G	0.377	-0.930581	0.02359	.	.	ENSG00000120332	ENST00000239462;ENST00000539081	T	0.25749	1.78	5.21	1.06	0.20224	.	1.265810	0.04920	N	0.454766	T	0.12774	0.0310	N	0.14661	0.345	0.09310	N	1	B;B	0.31931	0.0;0.347	B;B	0.17722	0.0;0.019	T	0.22347	-1.0219	10	0.15952	T	0.53	.	7.2197	0.25979	0.1635:0.4143:0.4222:0.0	.	8;8	B3KXB6;Q9UQP3	.;TENN_HUMAN	H	8	ENSP00000239462:R8H	ENSP00000239462:R8H	R	+	2	0	TNN	173313200	0.006000	0.16342	0.162000	0.22713	0.020000	0.10135	0.144000	0.16135	0.275000	0.22094	-0.140000	0.14226	CGC		0.572	TNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084422.1	XM_040527		8	239	0	0	0	0.27861	0	8	239					A	175046577	G	A	175046577	3	1	36	1	0	0	0	0	1	0	0	0	16320	1087	38	1	25	1	TNN	1	175046577	Missense_Mutation	SNP	G	TCGA-CH-5771-01A-21D-1576-08	18915425	175046577	74204044	7	1939											
SCN7A	6332	broad.mit.edu	37	chr2	167262388	167262388	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcacatcttgacccataactCtctttgtaaaagcaagtaag	14	12	5	10	0	3	1	1	1	2	0	4	1	3	1	1	0	2	3	1	0	5	5			TCGA-CH-5771-01A-21D-1576-08	TCGA-CH-5771-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87e1ffee-a8cd-4d75-937e-ed415cf43546	d75f9a49-dfc3-493b-b9dd-4940d9803cfd	g.chr2:167262388C>A	ENST00000409855.1	-	25	4877	c.4751G>T	c.(4750-4752)aGa>aTa	p.R1584I		NM_002976.3	NP_002967.2	Q01118	SCN7A_HUMAN	sodium channel, voltage-gated, type VII, alpha subunit	1584					membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|neuronal action potential (GO:0019228)|sodium ion homeostasis (GO:0055078)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	glial cell projection (GO:0097386)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)	p.R1584I(3)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44					Valproic Acid(DB00313)	ACCCATAACTCTCTTTGTAAA	0.428																																						ENST00000409855.1																			3	Substitution - Missense(3)	p.R1584I(3)	prostate(3)	breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44						c.(4750-4752)aGa>aTa		sodium channel, voltage-gated, type VII, alpha subunit							163	162	163					2																	167262388		1898	4123	6021	SO:0001583	missense	6332				muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:167262388C>A	M91556	CCDS46442.1	2q21-q23	2012-03-05	2012-02-28	2002-06-14	ENSG00000136546	ENSG00000136546		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10594	protein-coding gene	gene with protein product		182392	"sodium channel, voltage-gated, type VI, alpha", "sodium channel, voltage-gated, type VII, alpha"	SCN6A		10198179	Standard	NM_002976		Approved	Nav2.1, Nav2.2, NaG	uc002udu.2	Q01118	OTTHUMG00000154078	ENST00000409855.1:c.4751G>T	2.37:g.167262388C>A	ENSP00000386796:p.Arg1584Ile						p.R1584I	NM_002976.3	NP_002967.2	Q01118	SCN7A_HUMAN			25	4877	-			1584						Missense_Mutation	SNP	ENST00000409855.1	37	c.4751G>T	CCDS46442.1	.	.	.	.	.	.	.	.	.	.	C	18.63	3.665903	0.67700	.	.	ENSG00000136546	ENST00000409855;ENST00000259060	D	0.97114	-4.25	4.51	4.51	0.55191	.	0.000000	0.52532	D	0.000066	D	0.98261	0.9424	M	0.87269	2.87	0.45883	D	0.998736	D	0.67145	0.996	P	0.61874	0.895	D	0.98920	1.0783	10	0.87932	D	0	.	15.1081	0.72336	0.0:1.0:0.0:0.0	.	1584	Q01118	SCN7A_HUMAN	I	1584	ENSP00000386796:R1584I	ENSP00000259060:R1584I	R	-	2	0	SCN7A	166970634	0.004000	0.15560	0.997000	0.53966	0.857000	0.48899	1.741000	0.38238	2.514000	0.84764	0.655000	0.94253	AGA		0.428	SCN7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333745.1			51	357	1	0	2.31418e-15	0.870114	3.00844e-15	51	357					A	167262388	C	A	167262388	3	1	36	1	0	0	0	0	1	0	0	0	13923	913	32	5	301	5	SCN7A	2	167262388	Missense_Mutation	SNP	C	TCGA-CH-5771-01A-21D-1576-08		167262388	75936985	8	1940											
PDGFRA	5156	broad.mit.edu	37	chr4	55138618	55138618	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggctcaactgggggacagaCggtgaggtgcacagctgaag	10	6	17	8	1	1	3	1	2	0	1	1	4	1	4	0	5	3	3	0	5	2	0			TCGA-CH-5771-01A-21D-1576-08	TCGA-CH-5771-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87e1ffee-a8cd-4d75-937e-ed415cf43546	d75f9a49-dfc3-493b-b9dd-4940d9803cfd	g.chr4:55138618C>T	ENST00000257290.5	+	9	1626	c.1295C>T	c.(1294-1296)aCg>aTg	p.T432M	FIP1L1_ENST00000507166.1_Intron	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor, alpha polypeptide	432	Ig-like C2-type 5.				adrenal gland development (GO:0030325)|cardiac myofibril assembly (GO:0055003)|cell activation (GO:0001775)|cell chemotaxis (GO:0060326)|cellular response to amino acid stimulus (GO:0071230)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic skeletal system morphogenesis (GO:0048704)|epidermal growth factor receptor signaling pathway (GO:0007173)|estrogen metabolic process (GO:0008210)|extracellular matrix organization (GO:0030198)|face morphogenesis (GO:0060325)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hematopoietic progenitor cell differentiation (GO:0002244)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|Leydig cell differentiation (GO:0033327)|lung development (GO:0030324)|luteinization (GO:0001553)|male genitalia development (GO:0030539)|metanephric glomerular capillary formation (GO:0072277)|negative regulation of platelet activation (GO:0010544)|neurotrophin TRK receptor signaling pathway (GO:0048011)|odontogenesis of dentin-containing tooth (GO:0042475)|palate development (GO:0060021)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet aggregation (GO:0070527)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|platelet-derived growth factor receptor-alpha signaling pathway (GO:0035790)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell proliferation by VEGF-activated platelet derived growth factor receptor signaling pathway (GO:0038091)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of DNA replication (GO:0045740)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|protein autophosphorylation (GO:0046777)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of chemotaxis (GO:0050920)|regulation of mesenchymal stem cell differentiation (GO:2000739)|retina vasculature development in camera-type eye (GO:0061298)|signal transduction involved in regulation of gene expression (GO:0023019)|viral process (GO:0016032)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|membrane (GO:0016020)|microvillus (GO:0005902)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|platelet-derived growth factor alpha-receptor activity (GO:0005018)|platelet-derived growth factor binding (GO:0048407)|platelet-derived growth factor receptor binding (GO:0005161)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor binding (GO:0038085)|vascular endothelial growth factor-activated receptor activity (GO:0005021)	p.T432M(2)		NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sunitinib(DB01268)	GGGGGACAGACGGTGAGGTGC	0.473			"Mis, O, T"	FIP1L1	"GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)																											Pancreas(151;208 1913 7310 23853 37092)	ENST00000257290.5				Dom	yes		4	4q11-q13	5156	"Mis, O, T"	"platelet-derived growth factor, alpha-receptor"			"L, M, O"	FIP1L1		"GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"		2	Substitution - Missense(2)	p.T432M(2)	prostate(2)	NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967						c.(1294-1296)aCg>aTg		platelet-derived growth factor receptor, alpha polypeptide	Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)						159	145	150					4																	55138618		2203	4300	6503	SO:0001583	missense	5156	Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	Familial Cancer Database	Sporadic Multiple GIST;Familial Intestinal Stromal Tumors, NF3B, subset of Familial GIST,	cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity	g.chr4:55138618C>T	D50001	CCDS3495.1	4q12	2014-09-17			ENSG00000134853	ENSG00000134853		"CD molecules", "Immunoglobulin superfamily / I-set domain containing"	8803	protein-coding gene	gene with protein product		173490					Standard	NM_006206		Approved	CD140a, PDGFR2	uc003han.4	P16234	OTTHUMG00000128699	ENST00000257290.5:c.1295C>T	4.37:g.55138618C>T	ENSP00000257290:p.Thr432Met	TSP Lung(21;0.16)				FIP1L1_ENST00000507166.1_Intron	p.T432M	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		9	1626	+	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		432			Ig-like C2-type 5.		B2RE69|E9PBH0|Q6P4H5|Q96KZ7|Q9UD28	Missense_Mutation	SNP	ENST00000257290.5	37	c.1295C>T	CCDS3495.1	.	.	.	.	.	.	.	.	.	.	C	9.499	1.102670	0.20632	.	.	ENSG00000134853	ENST00000257290	T	0.79352	-1.26	6.17	2.41	0.29592	Immunoglobulin-like fold (1);	0.248587	0.20666	N	0.087927	T	0.69513	0.3119	M	0.70275	2.135	0.80722	D	1	P;B	0.45396	0.857;0.261	B;B	0.35182	0.197;0.033	T	0.65780	-0.6085	10	0.42905	T	0.14	.	7.8483	0.29440	0.1122:0.6978:0.0:0.19	.	432;432	P16234-3;P16234	.;PGFRA_HUMAN	M	432	ENSP00000257290:T432M	ENSP00000257290:T432M	T	+	2	0	PDGFRA	54833375	0.948000	0.32251	0.676000	0.29932	0.004000	0.04260	1.634000	0.37123	0.435000	0.26365	-0.126000	0.14955	ACG		0.473	PDGFRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250598.2	NM_006206		17	118	0	0	0	0.539581	0	17	118					T	55138618	C	T	55138618	3	4	36	1	0	0	0	0	1	0	0	0	11661	536	19	1	1325	1	PDGFRA	4	55138618	Missense_Mutation	SNP	C	TCGA-CH-5771-01A-21D-1576-08		55138618	136015658	9	1941											
ANK2	287	broad.mit.edu	37	chr4	114251487	114251487	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tccgaatcattattccacctCggaaatgtactgctccaacg	11	11	6	13	3	1	0	1	0	0	0	5	2	4	1	4	1	3	2	4	1	5	3			TCGA-CH-5771-01A-21D-1576-08	TCGA-CH-5771-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87e1ffee-a8cd-4d75-937e-ed415cf43546	d75f9a49-dfc3-493b-b9dd-4940d9803cfd	g.chr4:114251487C>T	ENST00000357077.4	+	27	3039	c.2986C>T	c.(2986-2988)Cgg>Tgg	p.R996W	ANK2_ENST00000264366.6_Missense_Mutation_p.R996W|ANK2_ENST00000509550.1_Missense_Mutation_p.R205W|ANK2_ENST00000506722.1_Missense_Mutation_p.R987W|ANK2_ENST00000394537.3_Missense_Mutation_p.R996W	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	996	Interaction with SPTBN1.|ZU5 1. {ECO:0000255|PROSITE- ProRule:PRU00485}.				atrial cardiac muscle cell action potential (GO:0086014)|atrial cardiac muscle cell to AV node cell communication (GO:0086066)|atrial septum development (GO:0003283)|axon guidance (GO:0007411)|cardiac muscle contraction (GO:0060048)|cellular calcium ion homeostasis (GO:0006874)|cellular protein localization (GO:0034613)|membrane depolarization during SA node cell action potential (GO:0086046)|paranodal junction assembly (GO:0030913)|positive regulation of calcium ion transmembrane transporter activity (GO:1901021)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cation channel activity (GO:2001259)|positive regulation of gene expression (GO:0010628)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein localization to cell surface (GO:0034394)|protein localization to endoplasmic reticulum (GO:0070972)|protein localization to M-band (GO:0036309)|protein localization to organelle (GO:0033365)|protein localization to plasma membrane (GO:0072659)|protein localization to T-tubule (GO:0036371)|protein stabilization (GO:0050821)|protein targeting to plasma membrane (GO:0072661)|regulation of calcium ion transmembrane transporter activity (GO:1901019)|regulation of calcium ion transport (GO:0051924)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to methylmercury (GO:0051597)|SA node cell action potential (GO:0086015)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|T-tubule organization (GO:0033292)|ventricular cardiac muscle cell action potential (GO:0086005)	A band (GO:0031672)|basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intracellular (GO:0005622)|M band (GO:0031430)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|potassium channel regulator activity (GO:0015459)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)	p.R996W(1)		NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		TATTCCACCTCGGAAATGTAC	0.512																																						ENST00000357077.4																			1	Substitution - Missense(1)	p.R996W(1)	prostate(1)	NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248						c.(2986-2988)Cgg>Tgg		ankyrin 2, neuronal							75	68	70					4																	114251487		2203	4300	6503	SO:0001583	missense	287				axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding	g.chr4:114251487C>T	M37123	CCDS3702.1, CCDS43261.1, CCDS54796.1	4q25-q26	2014-09-17	2003-03-12		ENSG00000145362	ENSG00000145362		"Ankyrin repeat domain containing"	493	protein-coding gene	gene with protein product		106410	"long (electrocardiographic) QT syndrome 4"	LQT4		7485162, 12571597	Standard	NM_001148		Approved		uc003ibe.4	Q01484	OTTHUMG00000132912	ENST00000357077.4:c.2986C>T	4.37:g.114251487C>T	ENSP00000349588:p.Arg996Trp					ANK2_ENST00000264366.6_Missense_Mutation_p.R996W|ANK2_ENST00000509550.1_Missense_Mutation_p.R205W|ANK2_ENST00000394537.3_Missense_Mutation_p.R996W|ANK2_ENST00000506722.1_Missense_Mutation_p.R987W	p.R996W	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)	27	3039	+		Ovarian(17;0.0448)|Hepatocellular(203;0.218)	996			Interaction with SPTBN1.|ZU5.		Q01485|Q08AC7|Q08AC8|Q7Z3L5	Missense_Mutation	SNP	ENST00000357077.4	37	c.2986C>T	CCDS3702.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	24.9|24.9	4.578400|4.578400	0.86645|0.86645	.|.	.|.	ENSG00000145362|ENSG00000145362	ENST00000503271;ENST00000503423;ENST00000506722;ENST00000431447;ENST00000504454;ENST00000394537;ENST00000357077;ENST00000264366;ENST00000343056;ENST00000509550|ENST00000514960	T;T;T;T;T;T;T;T|.	0.47177|.	0.85;0.85;0.85;0.85;0.85;0.85;0.85;0.85|.	5.93|5.93	5.08|5.08	0.68730|0.68730	ZU5 (3);|.	0.000000|.	0.49916|.	D|.	0.000131|.	T|T	0.66915|0.66915	0.2838|0.2838	L|L	0.46157|0.46157	1.445|1.445	0.80722|0.80722	D|D	1|1	D;D;D;D;D;D;D|.	0.89917|.	1.0;1.0;1.0;1.0;1.0;1.0;0.996|.	D;D;D;D;D;D;P|.	0.85130|.	0.98;0.997;0.991;0.961;0.994;0.967;0.802|.	T|T	0.64262|0.64262	-0.6449|-0.6449	10|5	0.87932|.	D|.	0|.	.|.	16.4059|16.4059	0.83670|0.83670	0.1328:0.8672:0.0:0.0|0.1328:0.8672:0.0:0.0	.|.	205;996;41;996;996;987;987|.	E9PCH6;Q01484;Q7Z344;Q01484-2;Q01484-4;Q01484-5;F8WEF9|.	.;ANK2_HUMAN;.;.;.;.;.|.	W|L	975;942;987;75;1011;996;996;996;987;205|41	ENSP00000423799:R975W;ENSP00000421011:R942W;ENSP00000421067:R987W;ENSP00000424722:R1011W;ENSP00000378044:R996W;ENSP00000349588:R996W;ENSP00000264366:R996W;ENSP00000426944:R205W|.	ENSP00000264366:R996W|.	R|S	+|+	1|2	2|0	ANK2|ANK2	114470936|114470936	0.999000|0.999000	0.42202|0.42202	1.000000|1.000000	0.80357|0.80357	0.950000|0.950000	0.60333|0.60333	4.039000|4.039000	0.57325|0.57325	1.467000|1.467000	0.48044|0.48044	0.563000|0.563000	0.77884|0.77884	CGG|TCG		0.512	ANK2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256422.2	NM_001148		7	59	0	0	0	0.307466	0	7	59					T	114251487	C	T	114251487	3	4	36	1	0	0	0	0	1	0	0	0	621	875	31	2	3157	2	ANK2	4	114251487	Missense_Mutation	SNP	C	TCGA-CH-5771-01A-21D-1576-08	59112869	114251487	76902789	10	1942											
SV2C	22987	broad.mit.edu	37	chr5	75427791	75427791	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatggtgaggccaacgatgaCgaaggctcaagtgaagccac	14	5	13	9	2	1	3	1	3	0	0	1	5	1	3	2	3	2	1	2	3	5	0			TCGA-CH-5771-01A-21D-1576-08	TCGA-CH-5771-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87e1ffee-a8cd-4d75-937e-ed415cf43546	d75f9a49-dfc3-493b-b9dd-4940d9803cfd	g.chr5:75427791C>T	ENST00000502798.2	+	2	658	c.216C>T	c.(214-216)gaC>gaT	p.D72D	SV2C_ENST00000322285.7_Silent_p.D72D	NM_014979.1	NP_055794.1	Q496J9	SV2C_HUMAN	synaptic vesicle glycoprotein 2C	72					neurotransmitter transport (GO:0006836)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|synaptic vesicle (GO:0008021)	transmembrane transporter activity (GO:0022857)	p.D72D(1)		NS(1)|breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		all_lung(232;0.007)|Lung NSC(167;0.0148)|Ovarian(174;0.0798)|Prostate(461;0.184)		OV - Ovarian serous cystadenocarcinoma(47;1.16e-50)|all cancers(79;7.25e-40)		CCAACGATGACGAAGGCTCAA	0.498																																						ENST00000502798.2																			1	Substitution - coding silent(1)	p.D72D(1)	prostate(1)	NS(1)|breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						c.(214-216)gaC>gaT		synaptic vesicle glycoprotein 2C							84	87	86					5																	75427791		2084	4235	6319	SO:0001819	synonymous_variant	22987				neurotransmitter transport	cell junction|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity	g.chr5:75427791C>T	AB028977	CCDS43331.1, CCDS75261.1	5q13	2008-02-05			ENSG00000122012	ENSG00000122012			30670	protein-coding gene	gene with protein product		610291				10470851, 9801366	Standard	XM_005248470		Approved		uc003kei.1	Q496J9	OTTHUMG00000162384	ENST00000502798.2:c.216C>T	5.37:g.75427791C>T						SV2C_ENST00000322285.7_Silent_p.D72D	p.D72D	NM_014979.1	NP_055794.1	Q496J9	SV2C_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;1.16e-50)|all cancers(79;7.25e-40)	2	658	+		all_lung(232;0.007)|Lung NSC(167;0.0148)|Ovarian(174;0.0798)|Prostate(461;0.184)	72					Q496K1|Q9UPU8	Silent	SNP	ENST00000502798.2	37	c.216C>T	CCDS43331.1																																																																																				0.498	SV2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368700.4			7	52	0	0	0	0.27861	0	7	52					T	75427791	C	T	75427791	2	4	36	1	0	0	0	0	0	0	0	1	15416	535	19	1		1	SV2C	5	75427791	Silent	SNP	C	TCGA-CH-5771-01A-21D-1576-08		75427791	105487469	11	1943											
CDKN2AIPNL	91368	broad.mit.edu	37	chr5	133747428	133747428	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcgcaggatgaattccatgcGggccttccattgcttctcgc	6	11	11	13	3	1	1	0	1	1	0	4	2	3	2	3	2	2	2	3	2	1	4			TCGA-CH-5771-01A-21D-1576-08	TCGA-CH-5771-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87e1ffee-a8cd-4d75-937e-ed415cf43546	d75f9a49-dfc3-493b-b9dd-4940d9803cfd	g.chr5:133747428G>A	ENST00000458198.2	-	1	161	c.118C>T	c.(118-120)Cgc>Tgc	p.R40C	CDKN2AIPNL_ENST00000395009.3_Missense_Mutation_p.R40C	NM_080656.2	NP_542387.1	Q96HQ2	C2AIL_HUMAN	CDKN2A interacting protein N-terminal like	40								p.R40C(1)		central_nervous_system(1)|kidney(2)|prostate(1)	4			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			AATTCCATGCGGGCCTTCCAT	0.677											OREG0016789	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000458198.2																			1	Substitution - Missense(1)	p.R40C(1)	prostate(1)	central_nervous_system(1)|kidney(2)|prostate(1)	4						c.(118-120)Cgc>Tgc		CDKN2A interacting protein N-terminal like							14	19	17					5																	133747428		2201	4296	6497	SO:0001583	missense	91368							g.chr5:133747428G>A	BC008293	CCDS4175.1	5q31.1	2008-02-05			ENSG00000237190	ENSG00000237190			30545	protein-coding gene	gene with protein product						12477932	Standard	NM_080656		Approved	MGC13017	uc011cxs.2	Q96HQ2	OTTHUMG00000129123	ENST00000458198.2:c.118C>T	5.37:g.133747428G>A	ENSP00000394183:p.Arg40Cys		OREG0016789	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1605	CDKN2AIPNL_ENST00000395009.3_Missense_Mutation_p.R40C	p.R40C	NM_080656.2	NP_542387.1	Q96HQ2	C2AIL_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		1	161	-			40					Q8WVE3	Missense_Mutation	SNP	ENST00000458198.2	37	c.118C>T	CCDS4175.1	.	.	.	.	.	.	.	.	.	.	G	25.7	4.665154	0.88251	.	.	ENSG00000237190	ENST00000458198;ENST00000395009	.	.	.	4.46	4.46	0.54185	.	0.000000	0.85682	D	0.000000	T	0.78368	0.4272	M	0.74467	2.265	0.58432	D	0.999996	D;D	0.89917	0.999;1.0	P;D	0.75020	0.871;0.985	T	0.81602	-0.0858	9	0.87932	D	0	-4.3739	16.3909	0.83537	0.0:0.0:1.0:0.0	.	40;40	Q96HQ2;Q96HQ2-2	C2AIL_HUMAN;.	C	40	.	ENSP00000378456:R40C	R	-	1	0	CDKN2AIPNL	133775327	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.760000	0.47581	2.503000	0.84419	0.491000	0.48974	CGC		0.677	CDKN2AIPNL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251171.2	NM_080656		3	32	0	0	0	0.115264	0	3	32					A	133747428	G	A	133747428	3	1	36	1	0	0	0	0	1	0	0	0	3163	1116	39	2	244	2	CDKN2AIPNL	5	133747428	Missense_Mutation	SNP	G	TCGA-CH-5771-01A-21D-1576-08	58319637	133747428	47167832	12	1944											
KIAA1324L	222223	broad.mit.edu	37	chr7	86556150	86556150	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaggcggacaatccttcttcTctccagaagggggcaatcta	11	9	10	11	1	3	1	0	0	3	1	6	2	5	2	2	4	0	1	2	4	5	3			TCGA-CH-5771-01A-21D-1576-08	TCGA-CH-5771-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87e1ffee-a8cd-4d75-937e-ed415cf43546	d75f9a49-dfc3-493b-b9dd-4940d9803cfd	g.chr7:86556150T>C	ENST00000450689.2	-	9	1357	c.1172A>G	c.(1171-1173)gAg>gGg	p.E391G	KIAA1324L_ENST00000444627.1_Missense_Mutation_p.E391G|KIAA1324L_ENST00000416314.1_Missense_Mutation_p.E224G|KIAA1324L_ENST00000297222.6_Missense_Mutation_p.E151G	NM_001142749.2	NP_001136221.1	A8MWY0	K132L_HUMAN	KIAA1324-like	391						integral component of membrane (GO:0016021)		p.E151G(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(14)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44	Esophageal squamous(14;0.0058)					ATCCTTCTTCTCTCCAGAAGG	0.428																																						ENST00000450689.2																			1	Substitution - Missense(1)	p.E151G(1)	prostate(1)	breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(14)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44						c.(1171-1173)gAg>gGg		KIAA1324-like							123	123	123					7																	86556150		2203	4300	6503	SO:0001583	missense	222223					integral to membrane		g.chr7:86556150T>C	AK055902	CCDS34677.1, CCDS47632.1, CCDS34677.2	7q21.12	2008-09-18			ENSG00000164659	ENSG00000164659			21945	protein-coding gene	gene with protein product	"EIG121-like"	614048					Standard	NM_001142749		Approved	FLJ31340, EIG121L	uc011kha.2	A8MWY0	OTTHUMG00000153995	ENST00000450689.2:c.1172A>G	7.37:g.86556150T>C	ENSP00000413445:p.Glu391Gly					KIAA1324L_ENST00000416314.1_Missense_Mutation_p.E224G|KIAA1324L_ENST00000444627.1_Missense_Mutation_p.E391G|KIAA1324L_ENST00000297222.6_Missense_Mutation_p.E151G	p.E391G	NM_001142749.2	NP_001136221.1	A8MWY0	K132L_HUMAN			9	1357	-	Esophageal squamous(14;0.0058)		391					A4D1C9|B4DJV3|Q17RI6|Q96DP2	Missense_Mutation	SNP	ENST00000450689.2	37	c.1172A>G	CCDS47632.1	.	.	.	.	.	.	.	.	.	.	T	14.76	2.631921	0.46944	.	.	ENSG00000164659	ENST00000450689;ENST00000297222;ENST00000444627;ENST00000416314	T;T;T;T	0.24723	2.53;1.84;2.53;2.53	5.53	5.53	0.82687	Growth factor, receptor (1);	0.214093	0.48767	D	0.000169	T	0.25568	0.0622	L	0.49350	1.555	0.51482	D	0.999929	P;P;P	0.39940	0.696;0.617;0.617	B;B;B	0.38842	0.283;0.242;0.121	T	0.02983	-1.1086	10	0.22109	T	0.4	.	14.8389	0.70209	0.0:0.0:0.0:1.0	.	391;151;224	A8MWY0;A8MWY0-2;B4DJV3	K132L_HUMAN;.;.	G	391;151;391;224	ENSP00000413445:E391G;ENSP00000297222:E151G;ENSP00000397377:E391G;ENSP00000402390:E224G	ENSP00000297222:E151G	E	-	2	0	KIAA1324L	86394086	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.179000	0.71974	2.098000	0.63641	0.460000	0.39030	GAG		0.428	KIAA1324L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333372.3	NM_152748		14	265	0	0	0	0.457914	0	14	265					C	86556150	T	C	86556150	3	2	36	1	0	0	0	0	1	0	0	0	8224	1551	54	4	1973	4	KIAA1324L	7	86556150	Missense_Mutation	SNP	T	TCGA-CH-5771-01A-21D-1576-08		86556150	72582513	13	1945											
MET	4233	broad.mit.edu	37	chr7	116340051	116340051	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtattctcacagaaaagagaAaaaagagatccacaaagaag	22	5	8	6	0	1	4	1	0	1	4	3	6	2	4	1	0	0	1	1	0	8	2			TCGA-CH-5771-01A-21D-1576-08	TCGA-CH-5771-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87e1ffee-a8cd-4d75-937e-ed415cf43546	d75f9a49-dfc3-493b-b9dd-4940d9803cfd	g.chr7:116340051A>G	ENST00000318493.6	+	2	1100	c.913A>G	c.(913-915)Aaa>Gaa	p.K305E	MET_ENST00000436117.2_Missense_Mutation_p.K305E|MET_ENST00000397752.3_Missense_Mutation_p.K305E			Q9NWH9	SLTM_HUMAN	MET proto-oncogene, receptor tyrosine kinase	0					apoptotic process (GO:0006915)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.K305E(2)		NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3)	233	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)			AGAAAAGAGAAAAAAGAGATC	0.428			Mis		"papillary renal, head-neck squamous cell "	papillary renal			Hereditary Papillary Renal Carcinoma (type 1)																													ENST00000397752.3				Dom	yes	Familial Papillary Renal Cancer	7	7q31	4233	Mis	met proto-oncogene (hepatocyte growth factor receptor)			E		papillary renal	"papillary renal, head-neck squamous cell "		2	Substitution - Missense(2)	p.K305E(2)	prostate(2)	NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3)	233						c.(913-915)Aaa>Gaa		met proto-oncogene							63	61	61					7																	116340051		1847	4092	5939	SO:0001583	missense	0	Hereditary Papillary Renal Carcinoma (type 1)	Familial Cancer Database	HPRC, Hereditary Papillary Renal Cell Cancer	axon guidance|cell proliferation	basal plasma membrane|integral to plasma membrane	ATP binding|hepatocyte growth factor receptor activity|protein binding	g.chr7:116340051A>G	M35073	CCDS43636.1, CCDS47689.1	7q31	2014-09-17	2014-06-26		ENSG00000105976	ENSG00000105976	2.7.10.1		7029	protein-coding gene	gene with protein product	"hepatocyte growth factor receptor"	164860	"met proto-oncogene"			1846706, 1611909	Standard	NM_001127500		Approved	HGFR, RCCP2	uc010lkh.3	P08581	OTTHUMG00000023299	ENST00000318493.6:c.913A>G	7.37:g.116340051A>G	ENSP00000317272:p.Lys305Glu					MET_ENST00000436117.2_Missense_Mutation_p.K305E|MET_ENST00000318493.6_Missense_Mutation_p.K305E	p.K305E	NM_000245.2|NM_001127500.1	NP_000236.2|NP_001120972.1	P08581	MET_HUMAN	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)		2	1113	+	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	305			Sema.		A8K5V8|B2RTX3|Q2VPK7|Q52MB3|Q658J7|Q6ZNF2|Q86TK6|Q9H7C3|Q9H8U9	Missense_Mutation	SNP	ENST00000318493.6	37	c.913A>G	CCDS47689.1	.	.	.	.	.	.	.	.	.	.	A	8.816	0.936454	0.18206	.	.	ENSG00000105976	ENST00000397752;ENST00000318493;ENST00000436117	T;T;T	0.11063	2.81;2.81;2.81	6.17	5.0	0.66597	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.092574	0.64402	D	0.000001	T	0.09379	0.0231	N	0.22421	0.69	0.80722	D	1	B;B;P;B;B;B;B;B;B;B;B;B;B	0.39044	0.09;0.134;0.656;0.177;0.177;0.134;0.3;0.177;0.44;0.11;0.134;0.034;0.034	B;B;B;B;B;B;B;B;B;B;B;B;B	0.37731	0.089;0.174;0.243;0.174;0.174;0.174;0.257;0.174;0.174;0.068;0.174;0.119;0.119	T	0.08911	-1.0699	10	0.87932	D	0	.	13.5284	0.61607	0.8699:0.1301:0.0:0.0	.	305;305;305;305;305;305;305;305;305;305;305;305;305	B5A929;E7EQ94;B5A930;B5A934;B5A936;B5A937;B5A939;B5A941;B5A940;P08581-2;B5A942;P08581;A1L467	.;.;.;.;.;.;.;.;.;.;.;MET_HUMAN;.	E	305	ENSP00000380860:K305E;ENSP00000317272:K305E;ENSP00000410980:K305E	ENSP00000317272:K305E	K	+	1	0	MET	116127287	1.000000	0.71417	0.995000	0.50966	0.150000	0.21749	4.483000	0.60264	1.119000	0.41883	0.533000	0.62120	AAA		0.428	MET-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059620.3			11	202	0	0	0	0.361761	0	11	202					G	116340051	A	G	116340051	3	3	36	1	0	0	0	0	1	0	0	0	9485	15	1	4	915	4	MET	7	116340051	Missense_Mutation	SNP	A	TCGA-CH-5771-01A-21D-1576-08	29783901	116340051	42798612	14	1946											
RP1	6101	broad.mit.edu	37	chr8	55540711	55540711	+	Nonsense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctagatgattttgaaaattgTtcactaaggaagtttcagga	14	14	9	4	0	2	3	2	2	0	1	2	5	2	5	0	2	0	2	0	2	5	7	rs540468439		TCGA-CH-5771-01A-21D-1576-08	TCGA-CH-5771-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87e1ffee-a8cd-4d75-937e-ed415cf43546	d75f9a49-dfc3-493b-b9dd-4940d9803cfd	g.chr8:55540711T>A	ENST00000220676.1	+	4	4417	c.4269T>A	c.(4267-4269)tgT>tgA	p.C1423*		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	1423					axoneme assembly (GO:0035082)|cellular response to light stimulus (GO:0071482)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|photoreceptor cell outer segment organization (GO:0035845)|phototransduction, visible light (GO:0007603)|retinal cone cell development (GO:0046549)|retinal rod cell development (GO:0046548)|visual perception (GO:0007601)	axoneme (GO:0005930)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)	microtubule binding (GO:0008017)	p.C1423*(1)		NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			TTGAAAATTGTTCACTAAGGA	0.363																																					Colon(91;1014 1389 7634 14542 40420)	ENST00000220676.1																			1	Substitution - Nonsense(1)	p.C1423*(1)	prostate(1)	NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169						c.(4267-4269)tgT>tgA		retinitis pigmentosa 1 (autosomal dominant)							53	57	55					8																	55540711		2201	4297	6498	SO:0001587	stop_gained	6101				axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding	g.chr8:55540711T>A	AF146592	CCDS6160.1	8q12.1	2013-01-08				ENSG00000104237			10263	protein-coding gene	gene with protein product		603937				1783394	Standard	NM_006269		Approved	DCDC4A	uc003xsd.1	P56715		ENST00000220676.1:c.4269T>A	8.37:g.55540711T>A	ENSP00000220676:p.Cys1423*						p.C1423*	NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)		4	4417	+		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	1423						Nonsense_Mutation	SNP	ENST00000220676.1	37	c.4269T>A	CCDS6160.1	.	.	.	.	.	.	.	.	.	.	T	42	9.388276	0.99156	.	.	ENSG00000104237	ENST00000220676	.	.	.	5.41	2.99	0.34606	.	0.766385	0.11747	N	0.533445	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	4.2621	0.10745	0.141:0.2522:0.0:0.6068	.	.	.	.	X	1423	.	ENSP00000220676:C1423X	C	+	3	2	RP1	55703264	0.001000	0.12720	0.001000	0.08648	0.812000	0.45895	0.942000	0.29017	0.343000	0.23821	0.496000	0.49642	TGT		0.363	RP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378532.2	NM_006269		15	110	0	0	0	0.500413	0	15	110					A	55540711	T	A	55540711	4	1	36	1	0	0	0	0	0	1	0	0	13532	1731	60	5	4279	5	RP1	8	55540711	Nonsense_Mutation	SNP	T	TCGA-CH-5771-01A-21D-1576-08		55540711	90823311	15	1947											
MSC	9242	broad.mit.edu	37	chr8	72756371	72756371	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtactcccgctgcagcccccGaagctccatctcctccggat	6	8	8	19	3	1	0	0	0	1	0	5	2	4	1	6	1	4	4	6	1	2	1			TCGA-CH-5771-01A-21D-1576-08	TCGA-CH-5771-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87e1ffee-a8cd-4d75-937e-ed415cf43546	d75f9a49-dfc3-493b-b9dd-4940d9803cfd	g.chr8:72756371G>A	ENST00000325509.4	-	1	332	c.43C>T	c.(43-45)Cgg>Tgg	p.R15W	RP11-383H13.1_ENST00000537896.1_Intron|RP11-383H13.1_ENST00000524152.1_Intron|RP11-383H13.1_ENST00000457356.4_3'UTR|MSC_ENST00000518440.1_5'Flank|RP11-383H13.1_ENST00000521467.1_Intron	NM_005098.3	NP_005089.2	O60682	MUSC_HUMAN	musculin	15					branchiomeric skeletal muscle development (GO:0014707)|diaphragm development (GO:0060539)|palate development (GO:0060021)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001206)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)	p.R15W(1)		endometrium(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(4)|skin(2)	26	Breast(64;0.176)		Epithelial(68;0.137)|BRCA - Breast invasive adenocarcinoma(89;0.203)			TGCAGCCCCCGAAGCTCCATC	0.692																																						ENST00000325509.4																			1	Substitution - Missense(1)	p.R15W(1)	prostate(1)	endometrium(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(4)|skin(2)	26						c.(43-45)Cgg>Tgg		musculin							18	20	19					8																	72756371		1633	3511	5144	SO:0001583	missense	9242				transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr8:72756371G>A		CCDS43746.1	8q13.3	2013-06-07	2010-04-28		ENSG00000178860	ENSG00000178860		"Basic helix-loop-helix proteins"	7321	protein-coding gene	gene with protein product	"activated B-cell factor-1"	603628	"musculin (activated B-cell factor-1)"			9584154, 10198176	Standard	NM_005098		Approved	ABF-1, bHLHa22	uc003xyx.1	O60682	OTTHUMG00000164489	ENST00000325509.4:c.43C>T	8.37:g.72756371G>A	ENSP00000321445:p.Arg15Trp					RP11-383H13.1_ENST00000521467.1_Intron|RP11-383H13.1_ENST00000537896.1_Intron|RP11-383H13.1_ENST00000457356.4_3'UTR|RP11-383H13.1_ENST00000524152.1_Intron	p.R15W	NM_005098.3	NP_005089.2	O60682	MUSC_HUMAN	Epithelial(68;0.137)|BRCA - Breast invasive adenocarcinoma(89;0.203)		1	332	-	Breast(64;0.176)		15					O75946|Q53XZ2|Q9BRE7	Missense_Mutation	SNP	ENST00000325509.4	37	c.43C>T	CCDS43746.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.217506	0.79352	.	.	ENSG00000178860	ENST00000325509	D	0.98381	-4.9	4.11	3.22	0.36961	.	0.326796	0.24991	N	0.033998	D	0.95831	0.8643	L	0.29908	0.895	0.42120	D	0.991422	D	0.60575	0.988	P	0.46339	0.513	D	0.94818	0.7984	10	0.72032	D	0.01	.	11.4207	0.49980	0.0:0.0:0.6745:0.3255	.	15	O60682	MUSC_HUMAN	W	15	ENSP00000321445:R15W	ENSP00000321445:R15W	R	-	1	2	MSC	72918925	0.818000	0.29161	0.999000	0.59377	0.980000	0.70556	1.301000	0.33447	0.905000	0.36596	0.561000	0.74099	CGG		0.692	MSC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378974.1	NM_005098		4	21	0	0	0	0.150653	0	4	21					A	72756371	G	A	72756371	3	1	36	1	0	0	0	0	1	0	0	0	9868	1057	37	2	585	2	MSC	8	72756371	Missense_Mutation	SNP	G	TCGA-CH-5771-01A-21D-1576-08	17215660	72756371	73607651	16	1948											
RNF26	79102	broad.mit.edu	37	chr11	119207000	119207000	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccaggaccagagcaagacaGtgttgctcctgccctgccgg	8	6	13	14	1	0	2	0	0	0	2	1	3	1	3	5	2	4	3	5	2	1	1			TCGA-CH-5771-01A-21D-1576-08	TCGA-CH-5771-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87e1ffee-a8cd-4d75-937e-ed415cf43546	d75f9a49-dfc3-493b-b9dd-4940d9803cfd	g.chr11:119207000G>T	ENST00000311413.4	+	1	1764	c.1168G>T	c.(1168-1170)Gtg>Ttg	p.V390L	C1QTNF5_ENST00000525657.1_5'Flank|RP11-334E6.10_ENST00000501918.2_RNA	NM_032015.4	NP_114404.1	Q9BY78	RNF26_HUMAN	ring finger protein 26	390						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)	p.V390L(1)		cervix(1)|endometrium(1)|kidney(1)|lung(7)|ovary(1)|prostate(1)	12		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;3.8e-05)		GAGCAAGACAGTGTTGCTCCT	0.607																																						ENST00000311413.4																			1	Substitution - Missense(1)	p.V390L(1)	prostate(1)	cervix(1)|endometrium(1)|kidney(1)|lung(7)|ovary(1)|prostate(1)	12						c.(1168-1170)Gtg>Ttg		ring finger protein 26							98	84	89					11																	119207000		2199	4295	6494	SO:0001583	missense	79102						zinc ion binding	g.chr11:119207000G>T	AB055622	CCDS8419.1	11q23	2008-07-21				ENSG00000173456		"RING-type (C3HC4) zinc fingers"	14646	protein-coding gene	gene with protein product	"ring finger protein with leucine zipper"	606130				11352657	Standard	NM_032015		Approved	MGC2642	uc001pwh.3	Q9BY78		ENST00000311413.4:c.1168G>T	11.37:g.119207000G>T	ENSP00000312439:p.Val390Leu					RP11-334E6.10_ENST00000501918.2_RNA	p.V390L	NM_032015.4	NP_114404.1	Q9BY78	RNF26_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.8e-05)	1	1764	+		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)	390					Q542Y8	Missense_Mutation	SNP	ENST00000311413.4	37	c.1168G>T	CCDS8419.1	.	.	.	.	.	.	.	.	.	.	G	23.5	4.420200	0.83559	.	.	ENSG00000173456	ENST00000311413	T	0.80994	-1.44	5.57	5.57	0.84162	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);	0.000000	0.64402	D	0.000014	D	0.89375	0.6697	M	0.71036	2.16	0.51233	D	0.999912	D	0.76494	0.999	D	0.77557	0.99	D	0.89946	0.4076	10	0.72032	D	0.01	-15.9898	18.5437	0.91039	0.0:0.0:1.0:0.0	.	390	Q9BY78	RNF26_HUMAN	L	390	ENSP00000312439:V390L	ENSP00000312439:V390L	V	+	1	0	RNF26	118712210	1.000000	0.71417	0.959000	0.39883	0.975000	0.68041	7.795000	0.85887	2.619000	0.88677	0.491000	0.48974	GTG		0.607	RNF26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388220.1	NM_032015		16	95	1	0	4.75885e-15	0.520397	6.03561e-15	16	95					T	119207000	G	T	119207000	3	4	36	1	0	0	0	0	1	0	0	0	13486	1029	36	5	1170	5	RNF26	11	119207000	Missense_Mutation	SNP	G	TCGA-CH-5771-01A-21D-1576-08		119207000	15799516	17	1949											
BIN2	51411	broad.mit.edu	37	chr12	51696475	51696475	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcaagccactcttacccataCgatggccttcagctcctcat	9	11	5	16	1	4	0	3	0	1	0	5	1	5	0	4	1	4	1	4	1	3	3			TCGA-CH-5771-01A-21D-1576-08	TCGA-CH-5771-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87e1ffee-a8cd-4d75-937e-ed415cf43546	d75f9a49-dfc3-493b-b9dd-4940d9803cfd	g.chr12:51696475C>T	ENST00000267012.4	-	4	368	c.307G>A	c.(307-309)Gta>Ata	p.V103I	BIN2_ENST00000544402.1_Missense_Mutation_p.V77I|BIN2_ENST00000604560.1_Missense_Mutation_p.V76I|BIN2_ENST00000452142.2_Missense_Mutation_p.V103I	NM_016293.2	NP_057377.2	Q9UBW5	BIN2_HUMAN	bridging integrator 2	103	BAR. {ECO:0000255|PROSITE- ProRule:PRU00361}.				cell chemotaxis (GO:0060326)|membrane tubulation (GO:0097320)|phagocytosis, engulfment (GO:0006911)|podosome assembly (GO:0071800)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|podosome (GO:0002102)	phospholipid binding (GO:0005543)	p.V103I(1)		NS(2)|breast(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(3)	31						CTTACCCATACGATGGCCTTC	0.448																																						ENST00000267012.4																			1	Substitution - Missense(1)	p.V103I(1)	prostate(1)	NS(2)|breast(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(3)	31						c.(307-309)Gta>Ata		bridging integrator 2							220	197	205					12																	51696475		2203	4300	6503	SO:0001583	missense	51411					cytoplasm	protein binding	g.chr12:51696475C>T	AF146531	CCDS8811.1	12q13.13	2012-01-23			ENSG00000110934	ENSG00000110934			1053	protein-coding gene	gene with protein product		605936				10903846	Standard	XM_005268957		Approved	BRAP-1	uc001ryg.3	Q9UBW5		ENST00000267012.4:c.307G>A	12.37:g.51696475C>T	ENSP00000267012:p.Val103Ile					BIN2_ENST00000544402.1_Missense_Mutation_p.V77I|BIN2_ENST00000604560.1_Missense_Mutation_p.V76I|BIN2_ENST00000452142.2_Missense_Mutation_p.V103I	p.V103I	NM_016293.2	NP_057377.2	Q9UBW5	BIN2_HUMAN			4	368	-			103			BAR.		Q86VV0|Q9NWK4|Q9UKN4	Missense_Mutation	SNP	ENST00000267012.4	37	c.307G>A	CCDS8811.1	.	.	.	.	.	.	.	.	.	.	C	0.095	-1.160371	0.01686	.	.	ENSG00000110934	ENST00000452142;ENST00000267012;ENST00000544402	T;T;T	0.64618	0.23;-0.11;-0.11	5.18	2.96	0.34315	BAR (3);	0.683102	0.14180	N	0.336134	T	0.42966	0.1226	N	0.24115	0.695	0.09310	N	1	B;B;P	0.34587	0.403;0.403;0.458	B;B;B	0.26202	0.04;0.04;0.067	T	0.13683	-1.0500	10	0.33940	T	0.23	-0.5784	10.3319	0.43827	0.0:0.8108:0.0:0.1892	.	77;103;103	F5H0W4;Q9UBW5-2;Q9UBW5	.;.;BIN2_HUMAN	I	103;103;77	ENSP00000410217:V103I;ENSP00000267012:V103I;ENSP00000445874:V77I	ENSP00000267012:V103I	V	-	1	0	BIN2	49982742	0.000000	0.05858	0.575000	0.28536	0.096000	0.18686	0.465000	0.22004	0.608000	0.30000	0.655000	0.94253	GTA		0.448	BIN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000469800.1			47	320	0	0	0	0.870114	0	47	320					T	51696475	C	T	51696475	3	4	36	1	0	0	0	0	1	0	0	0	1433	536	19	1	1430	1	BIN2	12	51696475	Missense_Mutation	SNP	C	TCGA-CH-5771-01A-21D-1576-08		51696475	82155420	18	1950											
SBNO1	55206	broad.mit.edu	37	chr12	123834911	123834911	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agccctgcatctccaccatcAatatcaaagaggtcattcgg	12	9	7	13	1	4	1	3	0	1	1	6	1	4	1	3	2	2	1	3	2	3	2			TCGA-CH-5771-01A-21D-1576-08	TCGA-CH-5771-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87e1ffee-a8cd-4d75-937e-ed415cf43546	d75f9a49-dfc3-493b-b9dd-4940d9803cfd	g.chr12:123834911A>G	ENST00000602398.1	-	2	205	c.78T>C	c.(76-78)atT>atC	p.I26I	SBNO1_ENST00000602750.1_Silent_p.I26I|SBNO1_ENST00000420886.2_Silent_p.I26I|SBNO1_ENST00000267176.4_Silent_p.I26I|Y_RNA_ENST00000384460.1_RNA			A3KN83	SBNO1_HUMAN	strawberry notch homolog 1 (Drosophila)	26					regulation of transcription, DNA-templated (GO:0006355)			p.I26I(2)		NS(2)|breast(6)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(11)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(2)	62	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197)		CTCCACCATCAATATCAAAGA	0.438																																						ENST00000420886.2																			2	Substitution - coding silent(2)	p.I26I(2)	prostate(2)	NS(2)|breast(6)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(11)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(2)	62						c.(76-78)atT>atC		strawberry notch homolog 1 (Drosophila)							205	201	203					12																	123834911		2203	4300	6503	SO:0001819	synonymous_variant	55206						ATP binding|DNA binding|hydrolase activity	g.chr12:123834911A>G	AK001563	CCDS9246.1, CCDS53844.1	12q24.31	2006-10-06	2006-10-06			ENSG00000139697			22973	protein-coding gene	gene with protein product		614274	"sno, strawberry notch homolog 1 (Drosophila)"				Standard	NM_018183		Approved	MOP3, FLJ10701, FLJ10833, Sno	uc010tap.2	A3KN83		ENST00000602398.1:c.78T>C	12.37:g.123834911A>G						SBNO1_ENST00000602398.1_Silent_p.I26I|SBNO1_ENST00000267176.4_Silent_p.I26I|SBNO1_ENST00000602750.1_Silent_p.I26I	p.I26I	NM_001167856.1	NP_001161328.1	A3KN83	SBNO1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197)	1	77	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		26					Q05C06|Q3ZTS3|Q9H3T8|Q9NVB2	Silent	SNP	ENST00000602398.1	37	c.78T>C	CCDS53844.1																																																																																				0.438	SBNO1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000467684.1	NM_018183		16	386	0	0	0	0.520397	0	16	386					G	123834911	A	G	123834911	2	3	36	1	0	0	0	0	0	0	0	1	13862	126	5	4		4	SBNO1	12	123834911	Silent	SNP	A	TCGA-CH-5771-01A-21D-1576-08	72138436	123834911	10016984	19	1951											
CLMN	79789	broad.mit.edu	37	chr14	95670136	95670136	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtgactttcttcatcgtggCgggctgtactctctaaagca	8	13	10	10	2	3	1	1	1	2	0	5	1	3	1	0	2	2	3	0	2	3	4	rs78561092	byFrequency	TCGA-CH-5771-01A-21D-1576-08	TCGA-CH-5771-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87e1ffee-a8cd-4d75-937e-ed415cf43546	d75f9a49-dfc3-493b-b9dd-4940d9803cfd	g.chr14:95670136C>T	ENST00000298912.4	-	9	1663	c.1550G>A	c.(1549-1551)cGc>cAc	p.R517H		NM_024734.3	NP_079010.2	Q96JQ2	CLMN_HUMAN	calmin (calponin-like, transmembrane)	517					negative regulation of cell proliferation (GO:0008285)|neuron projection development (GO:0031175)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)		p.R517H(1)		central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(17)|prostate(3)|skin(3)	44				Epithelial(152;0.193)		TTCATCGTGGCGGGCTGTACT	0.458													C|||	13	0.00259585	0	0.0014	5008	,	,		18763	0.0119		0	False		,,,				2504	0					ENST00000298912.4																			1	Substitution - Missense(1)	p.R517H(1)	prostate(1)	central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(17)|prostate(3)|skin(3)	44						c.(1549-1551)cGc>cAc		calmin (calponin-like, transmembrane)		C	HIS/ARG	0,4406		0,0,2203	69	72	71		1550	0.4	0	14	dbSNP_131	71	2,8598	2.2+/-6.3	0,2,4298	yes	missense	CLMN	NM_024734.3	29	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	benign	517/1003	95670136	2,13004	2203	4300	6503	SO:0001583	missense	79789					integral to membrane	actin binding	g.chr14:95670136C>T	AB033014	CCDS9933.1	14q32.13	2012-10-02			ENSG00000165959	ENSG00000165959			19972	protein-coding gene	gene with protein product		611121				11386753	Standard	NM_024734		Approved	FLJ12383, KIAA1188, KIAA0500	uc001yef.2	Q96JQ2	OTTHUMG00000171629	ENST00000298912.4:c.1550G>A	14.37:g.95670136C>T	ENSP00000298912:p.Arg517His						p.R517H	NM_024734.3	NP_079010.2	Q96JQ2	CLMN_HUMAN		Epithelial(152;0.193)	9	1663	-			517					B2RAR7|Q9H713|Q9HA23|Q9HA57|Q9UFP4|Q9ULN2	Missense_Mutation	SNP	ENST00000298912.4	37	c.1550G>A	CCDS9933.1	12	0.005494505494505495	0	0.0	1	0.0027624309392265192	11	0.019230769230769232	0	0.0	C	12.46	1.945266	0.34283	0.0	2.33E-4	ENSG00000165959	ENST00000298912	D	0.92752	-3.1	5.76	0.394	0.16299	.	1.379260	0.04685	N	0.413178	T	0.70150	0.3191	N	0.08118	0	0.09310	N	1	B	0.27117	0.168	B	0.10450	0.005	T	0.68473	-0.5399	10	0.49607	T	0.09	.	4.7041	0.12841	0.1415:0.5438:0.0:0.3147	.	517	Q96JQ2	CLMN_HUMAN	H	517	ENSP00000298912:R517H	ENSP00000298912:R517H	R	-	2	0	CLMN	94739889	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.006000	0.13152	0.034000	0.15491	-0.126000	0.14955	CGC		0.458	CLMN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414518.2			11	112	0	0	0	0.361761	0	11	112					T	95670136	C	T	95670136	3	4	36	1	0	0	0	0	1	0	0	0	3542	768	27	1	1478	1	CLMN	14	95670136	Missense_Mutation	SNP	C	TCGA-CH-5771-01A-21D-1576-08		95670136	11679404	20	1952											
ATG2B	55102	broad.mit.edu	37	chr14	96800092	96800092	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tctgaagatacacccacagaGagggaatcttttctcaaata	15	10	7	9	0	3	3	1	1	3	2	4	5	3	4	1	1	1	0	1	1	5	4			TCGA-CH-5771-01A-21D-1576-08	TCGA-CH-5771-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87e1ffee-a8cd-4d75-937e-ed415cf43546	d75f9a49-dfc3-493b-b9dd-4940d9803cfd	g.chr14:96800092G>A	ENST00000359933.4	-	8	2033	c.1140C>T	c.(1138-1140)ctC>ctT	p.L380L		NM_018036.5	NP_060506	Q96BY7	ATG2B_HUMAN	autophagy related 2B	380					autophagic vacuole assembly (GO:0000045)|cellular response to nitrogen starvation (GO:0006995)|mitochondrion degradation (GO:0000422)|nucleophagy (GO:0044804)	extrinsic component of membrane (GO:0019898)|lipid particle (GO:0005811)|pre-autophagosomal structure (GO:0000407)		p.L380L(1)		breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7)	64		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)		CACCCACAGAGAGGGAATCTT	0.413																																						ENST00000359933.4																			1	Substitution - coding silent(1)	p.L380L(1)	prostate(1)	breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7)	64						c.(1138-1140)ctC>ctT		autophagy related 2B							121	114	116					14																	96800092		1840	4094	5934	SO:0001819	synonymous_variant	55102							g.chr14:96800092G>A	AK001104	CCDS9944.2	14q32.31	2014-02-12	2012-06-06	2007-07-31	ENSG00000066739	ENSG00000066739			20187	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 103", "ATG2 autophagy related 2 homolog B (S. cerevisiae)"	C14orf103		22350415	Standard	NM_018036		Approved	FLJ10242	uc001yfi.3	Q96BY7	OTTHUMG00000149933	ENST00000359933.4:c.1140C>T	14.37:g.96800092G>A							p.L380L	NM_018036.5	NP_060506.5	Q96BY7	ATG2B_HUMAN		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)	8	2033	-		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)	380					Q6ZRE7|Q96DQ3|Q9NW80	Silent	SNP	ENST00000359933.4	37	c.1140C>T	CCDS9944.2																																																																																				0.413	ATG2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314037.1	NM_018036		4	165	0	0	0	0.184627	0	4	165					A	96800092	G	A	96800092	2	1	36	1	0	0	0	0	0	0	0	1	1094	929	33	3		3	ATG2B	14	96800092	Silent	SNP	G	TCGA-CH-5771-01A-21D-1576-08	1129956	96800092	10549448	21	1953											
UBR1	197131	broad.mit.edu	37	chr15	43276106	43276106	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agactctacctgatagaagaCgaaccagatgtttctgtatc	13	11	8	9	1	2	5	0	1	2	4	3	6	2	5	2	0	2	2	2	0	5	4	rs536630830		TCGA-CH-5771-01A-21D-1576-08	TCGA-CH-5771-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87e1ffee-a8cd-4d75-937e-ed415cf43546	d75f9a49-dfc3-493b-b9dd-4940d9803cfd	g.chr15:43276106C>T	ENST00000290650.4	-	37	4217	c.4139G>A	c.(4138-4140)cGt>cAt	p.R1380H	UBR1_ENST00000382177.2_3'UTR	NM_174916.2	NP_777576.1	Q8IWV7	UBR1_HUMAN	ubiquitin protein ligase E3 component n-recognin 1	1380					cellular response to leucine (GO:0071233)|negative regulation of TOR signaling (GO:0032007)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|proteasome complex (GO:0000502)|ubiquitin ligase complex (GO:0000151)	leucine binding (GO:0070728)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.R1380H(1)		NS(2)|endometrium(2)|kidney(7)|large_intestine(12)|lung(25)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	58		all_cancers(109;4.32e-15)|all_epithelial(112;4.05e-13)|Lung NSC(122;1.75e-08)|all_lung(180;2e-07)|Melanoma(134;0.0179)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;4.08e-07)|COAD - Colon adenocarcinoma(120;0.185)|Colorectal(105;0.214)		TGATAGAAGACGAACCAGATG	0.348													C|||	1	0.000199681	0	0	5008	,	,		12419	0		0	False		,,,				2504	0.001					ENST00000290650.4																			1	Substitution - Missense(1)	p.R1380H(1)	prostate(1)	NS(2)|endometrium(2)|kidney(7)|large_intestine(12)|lung(25)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	58						c.(4138-4140)cGt>cAt		ubiquitin protein ligase E3 component n-recognin 1							71	63	66					15																	43276106		2203	4299	6502	SO:0001583	missense	197131				cellular response to leucine|negative regulation of TOR signaling cascade	cytosol	leucine binding|zinc ion binding	g.chr15:43276106C>T		CCDS10091.1	15q13	2008-06-23			ENSG00000159459	ENSG00000159459		"Ubiquitin protein ligase E3 component n-recognins"	16808	protein-coding gene	gene with protein product		605981				9653112	Standard	NM_174916		Approved		uc001zqq.3	Q8IWV7	OTTHUMG00000130702	ENST00000290650.4:c.4139G>A	15.37:g.43276106C>T	ENSP00000290650:p.Arg1380His					UBR1_ENST00000382177.2_3'UTR	p.R1380H	NM_174916.2	NP_777576.1	Q8IWV7	UBR1_HUMAN		GBM - Glioblastoma multiforme(94;4.08e-07)|COAD - Colon adenocarcinoma(120;0.185)|Colorectal(105;0.214)	37	4217	-		all_cancers(109;4.32e-15)|all_epithelial(112;4.05e-13)|Lung NSC(122;1.75e-08)|all_lung(180;2e-07)|Melanoma(134;0.0179)|Colorectal(260;0.215)	1380					O60708|O75492|Q14D45|Q68DN9|Q8IWY6|Q96JY4	Missense_Mutation	SNP	ENST00000290650.4	37	c.4139G>A	CCDS10091.1	.	.	.	.	.	.	.	.	.	.	C	33	5.226800	0.95173	.	.	ENSG00000159459	ENST00000290650	T	0.49432	0.78	5.84	5.84	0.93424	.	0.289878	0.40554	N	0.001071	T	0.62392	0.2424	M	0.68952	2.095	0.80722	D	1	D	0.71674	0.998	P	0.55667	0.781	T	0.60702	-0.7211	10	0.44086	T	0.13	-22.8504	18.3196	0.90232	0.0:1.0:0.0:0.0	.	1380	Q8IWV7	UBR1_HUMAN	H	1380	ENSP00000290650:R1380H	ENSP00000290650:R1380H	R	-	2	0	UBR1	41063398	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	3.752000	0.55172	2.764000	0.94973	0.655000	0.94253	CGT		0.348	UBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253202.1	NM_174916		5	50	0	0	0	0.217242	0	5	50					T	43276106	C	T	43276106	3	4	36	1	0	0	0	0	1	0	0	0	16898	536	19	1	1154	1	UBR1	15	43276106	Missense_Mutation	SNP	C	TCGA-CH-5771-01A-21D-1576-08		43276106	59255286	22	1954											
FBN1	2200	broad.mit.edu	37	chr15	48729540	48729540	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	aactgctgaatcatcaggtcCcacgatgatcccacttccat	11	10	6	14	1	2	2	2	2	0	0	5	3	5	2	3	1	2	1	3	1	2	1			TCGA-CH-5771-01A-21D-1576-08	TCGA-CH-5771-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87e1ffee-a8cd-4d75-937e-ed415cf43546	d75f9a49-dfc3-493b-b9dd-4940d9803cfd	g.chr15:48729540C>T	ENST00000316623.5	-	52	6813	c.6358G>A	c.(6358-6360)Gga>Aga	p.G2120R		NM_000138.4	NP_000129	P35555	FBN1_HUMAN	fibrillin 1	2120					extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|kidney development (GO:0001822)|sequestering of BMP in extracellular matrix (GO:0035582)|sequestering of TGFbeta in extracellular matrix (GO:0035583)|skeletal system development (GO:0001501)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)	p.G2120R(1)		NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		TCATCAGGTCCCACGATGATC	0.423																																						ENST00000316623.5																			1	Substitution - Missense(1)	p.G2120R(1)	prostate(1)	NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139						c.(6358-6360)Gga>Aga		fibrillin 1							71	72	71					15																	48729540		2198	4296	6494	SO:0001583	missense	2200				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding	g.chr15:48729540C>T	X63556	CCDS32232.1	15q21.1	2014-09-17	2006-04-25			ENSG00000166147			3603	protein-coding gene	gene with protein product	"Marfan syndrome"	134797	"fibrillin 1 (Marfan syndrome)"	FBN, MFS1, WMS		10036187, 12525539	Standard	NM_000138		Approved	MASS, OCTD, SGS	uc001zwx.2	P35555		ENST00000316623.5:c.6358G>A	15.37:g.48729540C>T	ENSP00000325527:p.Gly2120Arg						p.G2120R	NM_000138.4	NP_000129.3	P35555	FBN1_HUMAN		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)	52	6813	-		all_lung(180;0.00279)	2120					B2RUU0|D2JYH6|Q15972|Q75N87	Missense_Mutation	SNP	ENST00000316623.5	37	c.6358G>A	CCDS32232.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.991710	0.74703	.	.	ENSG00000166147	ENST00000316623;ENST00000389087;ENST00000544030	D	0.90900	-2.75	5.55	5.55	0.83447	Matrix fibril-associated (1);	0.279473	0.40818	N	0.001007	D	0.89146	0.6632	L	0.53617	1.68	0.80722	D	1	B	0.27229	0.172	B	0.21917	0.037	D	0.86317	0.1690	10	0.62326	D	0.03	.	19.2868	0.94082	0.0:1.0:0.0:0.0	.	2120	P35555	FBN1_HUMAN	R	2120;688;1010	ENSP00000325527:G2120R	ENSP00000325527:G2120R	G	-	1	0	FBN1	46516832	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	4.224000	0.58593	2.885000	0.99019	0.655000	0.94253	GGA		0.423	FBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417355.1			3	59	0	0	0	0.115264	0	3	59					T	48729540	C	T	48729540	3	4	36	1	0	0	0	0	1	0	0	0	5702	632	22	3	2317	3	FBN1	15	48729540	Missense_Mutation	SNP	C	TCGA-CH-5771-01A-21D-1576-08	5453434	48729540	53801852	23	1955											
MRPL28	10573	broad.mit.edu	37	chr16	418564	418564	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gggtgcagctgggggtcctgCcgggcaagccgcagcagcat	6	5	18	12	2	0	0	0	0	0	0	1	0	1	0	3	4	6	6	3	4	1	0			TCGA-CH-5771-01A-21D-1576-08	TCGA-CH-5771-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87e1ffee-a8cd-4d75-937e-ed415cf43546	d75f9a49-dfc3-493b-b9dd-4940d9803cfd	g.chr16:418564C>T	ENST00000199706.8	-	4	548	c.513G>A	c.(511-513)cgG>cgA	p.R171R	MRPL28_ENST00000389675.2_Silent_p.R171R|MRPL28_ENST00000429738.1_Intron	NM_006428.4	NP_006419.2	Q13084	RM28_HUMAN	mitochondrial ribosomal protein L28	171					translation (GO:0006412)	cytoplasm (GO:0005737)|mitochondrial ribosome (GO:0005761)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)	p.R171R(1)		breast(1)|kidney(1)|lung(1)|ovary(1)|prostate(1)	5		Hepatocellular(16;0.000105)|Lung NSC(18;0.0324)|all_lung(18;0.064)				GGGGGTCCTGCCGGGCAAGCC	0.657																																						ENST00000199706.8																			1	Substitution - coding silent(1)	p.R171R(1)	prostate(1)	breast(1)|kidney(1)|lung(1)|ovary(1)|prostate(1)	5						c.(511-513)cgG>cgA		mitochondrial ribosomal protein L28							45	51	49					16																	418564		2203	4300	6503	SO:0001819	synonymous_variant	10573				translation	mitochondrial ribosome	protein binding|structural constituent of ribosome	g.chr16:418564C>T	U19796	CCDS32349.1	16p13.12	2012-09-26	2002-11-13		ENSG00000086504	ENSG00000086504		"Mitochondrial ribosomal proteins / large subunits"	14484	protein-coding gene	gene with protein product		604853	"melanoma-associated antigen recognised by cytotoxic T lymphocytes"	MAAT1		11551941, 19753307	Standard	NM_006428		Approved	p15	uc002cgs.2	Q13084	OTTHUMG00000047994	ENST00000199706.8:c.513G>A	16.37:g.418564C>T						MRPL28_ENST00000429738.1_Intron|MRPL28_ENST00000389675.2_Silent_p.R171R	p.R171R	NM_006428.4	NP_006419.2	Q13084	RM28_HUMAN			4	548	-		Hepatocellular(16;0.000105)|Lung NSC(18;0.0324)|all_lung(18;0.064)	171					B2RCM4|D3DU46|Q4TT39|Q96S26|Q9BQD8|Q9BR04	Silent	SNP	ENST00000199706.8	37	c.513G>A	CCDS32349.1																																																																																				0.657	MRPL28-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139285.2			7	64	0	0	0	0.307466	0	7	64					T	418564	C	T	418564	2	4	36	1	0	0	0	0	0	0	0	1	9792	726	26	3		3	MRPL28	16	418564	Silent	SNP	C	TCGA-CH-5771-01A-21D-1576-08		418564	89936189	24	1956											
SLC13A5	284111	broad.mit.edu	37	chr17	6597493	6597493	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gcagggtggccacaaagatgGccacagtggcatcggagaca	12	4	15	10	1	0	2	0	0	0	2	1	3	0	2	2	5	0	2	2	5	1	0			TCGA-CH-5771-01A-21D-1576-08	TCGA-CH-5771-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87e1ffee-a8cd-4d75-937e-ed415cf43546	d75f9a49-dfc3-493b-b9dd-4940d9803cfd	g.chr17:6597493G>A	ENST00000433363.2	-	8	1312	c.1079C>T	c.(1078-1080)gCc>gTc	p.A360V	SLC13A5_ENST00000293800.6_Missense_Mutation_p.A343V|SLC13A5_ENST00000573648.1_Missense_Mutation_p.A360V|SLC13A5_ENST00000381074.4_Missense_Mutation_p.A317V	NM_001284510.1|NM_177550.3	NP_001271439.1|NP_808218.1	Q86YT5	S13A5_HUMAN	solute carrier family 13 (sodium-dependent citrate transporter), member 5	360					transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	citrate transmembrane transporter activity (GO:0015137)|sodium:dicarboxylate symporter activity (GO:0017153)|succinate transmembrane transporter activity (GO:0015141)	p.A360V(1)		breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|prostate(5)|skin(3)|urinary_tract(1)	26						CACAAAGATGGCCACAGTGGC	0.522																																						ENST00000433363.2																			1	Substitution - Missense(1)	p.A360V(1)	prostate(1)	breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|prostate(5)|skin(3)|urinary_tract(1)	26						c.(1078-1080)gCc>gTc		solute carrier family 13 (sodium-dependent citrate transporter), member 5							83	69	74					17																	6597493		2203	4300	6503	SO:0001583	missense	284111					integral to membrane	citrate transmembrane transporter activity	g.chr17:6597493G>A	AJ489980	CCDS11079.1, CCDS45593.1, CCDS67136.1, CCDS67137.1	17p13.1	2013-05-22			ENSG00000141485	ENSG00000141485		"Solute carriers"	23089	protein-coding gene	gene with protein product		608305				12445824	Standard	NM_001284510		Approved	NACT	uc002gdj.3	Q86YT5	OTTHUMG00000102052	ENST00000433363.2:c.1079C>T	17.37:g.6597493G>A	ENSP00000406220:p.Ala360Val					SLC13A5_ENST00000293800.6_Missense_Mutation_p.A343V|SLC13A5_ENST00000573648.1_Missense_Mutation_p.A360V|SLC13A5_ENST00000381074.4_Missense_Mutation_p.A317V	p.A360V	NM_177550.3	NP_808218.1	Q86YT5	S13A5_HUMAN			8	1312	-			360					B3KXR0|B7Z4P2|B7ZLB4|F8W7N2|Q6ZMG1	Missense_Mutation	SNP	ENST00000433363.2	37	c.1079C>T	CCDS11079.1	.	.	.	.	.	.	.	.	.	.	G	34	5.320833	0.95682	.	.	ENSG00000141485	ENST00000293800;ENST00000433363;ENST00000381074	T;T	0.04970	3.52;3.52	5.61	5.61	0.85477	.	0.046540	0.85682	D	0.000000	T	0.22085	0.0532	M	0.78637	2.42	0.80722	D	1	P;P;P;P	0.48998	0.745;0.918;0.745;0.87	P;P;P;P	0.55508	0.609;0.596;0.609;0.777	T	0.00032	-1.2276	10	0.48119	T	0.1	.	17.5007	0.87731	0.0:0.0:1.0:0.0	.	360;317;343;360	B7ZLB4;F8W7N2;B3KXR0;Q86YT5	.;.;.;S13A5_HUMAN	V	360;360;317	ENSP00000406220:A360V;ENSP00000370464:A317V	ENSP00000293800:A360V	A	-	2	0	SLC13A5	6538217	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	8.628000	0.90979	2.815000	0.96918	0.561000	0.74099	GCC		0.522	SLC13A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219853.2	NM_177550		6	28	0	0	0	0.248553	0	6	28					A	6597493	G	A	6597493	3	1	36	1	0	0	0	0	1	0	0	0	14395	1203	42	3	647	3	SLC13A5	17	6597493	Missense_Mutation	SNP	G	TCGA-CH-5771-01A-21D-1576-08		6597493	74597717	25	1957											
NEUROD2	4761	broad.mit.edu	37	chr17	37762300	37762308	+	In_Frame_Del	DEL	GGTCTGGCC	GGTCTGGCC	-																															agtctgcacgtaggacactaGgtctggccgcttgccggagc																										TCGA-CH-5771-01A-21D-1576-08	TCGA-CH-5771-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87e1ffee-a8cd-4d75-937e-ed415cf43546	d75f9a49-dfc3-493b-b9dd-4940d9803cfd	g.chr17:37762300_37762308delGGTCTGGCC	ENST00000302584.4	-	2	765_773	c.545_553delGGCCAGACC	c.(544-555)cggccagaccta>cta	p.RPD182del		NM_006160.3	NP_006151.3	Q15784	NDF2_HUMAN	neuronal differentiation 2	182					associative learning (GO:0008306)|behavioral fear response (GO:0001662)|cellular response to calcium ion (GO:0071277)|cellular response to electrical stimulus (GO:0071257)|cerebellar cortex development (GO:0021695)|negative regulation of synapse maturation (GO:2000297)|nervous system development (GO:0007399)|neuron development (GO:0048666)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic plasticity (GO:0031915)|protein ubiquitination (GO:0016567)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	nucleus (GO:0005634)	E-box binding (GO:0070888)|protein heterodimerization activity (GO:0046982)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			endometrium(1)|kidney(1)|large_intestine(2)|lung(4)	8	Lung NSC(9;1.15e-09)|all_lung(9;6.24e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Lung(15;0.00549)|LUAD - Lung adenocarcinoma(14;0.0664)			TAGGACACTAGGTCTGGCCGCTTGCCGGA	0.603																																						ENST00000302584.4																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(4)	8						c.(544-555)cta>c		neuronal differentiation 2																																				SO:0001651	inframe_deletion	4761				cellular response to calcium ion|cellular response to electrical stimulus|cerebellar cortex development|negative regulation of synapse maturation|positive regulation of calcium-mediated signaling|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of synapse maturation|positive regulation of synaptic plasticity|protein ubiquitination|regulation of transcription from RNA polymerase II promoter	nucleus	E-box binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr17:37762300_37762308delGGTCTGGCC	U58681	CCDS11338.1	17q12	2013-05-21	2012-02-22		ENSG00000171532	ENSG00000171532		"Basic helix-loop-helix proteins"	7763	protein-coding gene	gene with protein product		601725	"neurogenic differentiation 2"			9119405	Standard	XM_005257409		Approved	NDRF, bHLHa1	uc002hry.3	Q15784	OTTHUMG00000133211	ENST00000302584.4:c.545_553delGGCCAGACC	17.37:g.37762300_37762308delGGTCTGGCC	ENSP00000306754:p.Arg182_Asp184del						p.RPDL182del	NM_006160.3	NP_006151.3	Q15784	NDF2_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Lung(15;0.00549)|LUAD - Lung adenocarcinoma(14;0.0664)		2	765_773	-	Lung NSC(9;1.15e-09)|all_lung(9;6.24e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		182					Q8TBI7|Q9UQC6	In_Frame_Del	DEL	ENST00000302584.4	37	c.545_553delGGCCAGACC	CCDS11338.1																																																																																				0.603	NEUROD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256931.2	NM_006160		8	81						8	81	---	---	---	---	-	37762308	GGTCTGGCC	-	37762300	7	5	36	1	0	1	0	1	0	0	0	0	10349	991	35	0	599	0	NEUROD2	17	37762300	In_Frame_Del	DEL	GGTCTGGCC	TCGA-CH-5771-01A-21D-1576-08	31164807	37762300	43432910	26	1958											
MARK4	57787	broad.mit.edu	37	chr19	45762287	45762287	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgctcctcggacaaaggccCgtcctggtccagccgctcac	6	6	10	19	4	1	0	1	0	0	0	5	1	4	1	6	3	1	2	6	3	1	0			TCGA-CH-5771-01A-21D-1576-08	TCGA-CH-5771-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87e1ffee-a8cd-4d75-937e-ed415cf43546	d75f9a49-dfc3-493b-b9dd-4940d9803cfd	g.chr19:45762287C>T	ENST00000262891.4	+	2	423	c.92C>T	c.(91-93)cCg>cTg	p.P31L	MARK4_ENST00000300843.4_Missense_Mutation_p.P31L	NM_001199867.1	NP_001186796.1	Q96L34	MARK4_HUMAN	MAP/microtubule affinity-regulating kinase 4	31					microtubule bundle formation (GO:0001578)|microtubule cytoskeleton organization (GO:0000226)|nervous system development (GO:0007399)|positive regulation of programmed cell death (GO:0043068)|protein phosphorylation (GO:0006468)	centrosome (GO:0005813)|microtubule cytoskeleton (GO:0015630)|microtubule organizing center (GO:0005815)|neuron projection (GO:0043005)	ATP binding (GO:0005524)|gamma-tubulin binding (GO:0043015)|microtubule binding (GO:0008017)|protein serine/threonine kinase activity (GO:0004674)|tau-protein kinase activity (GO:0050321)|ubiquitin binding (GO:0043130)	p.P31L(2)		NS(1)|biliary_tract(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	31		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0102)		GACAAAGGCCCGTCCTGGTCC	0.672																																						ENST00000300843.4																			2	Substitution - Missense(2)	p.P31L(2)	prostate(2)	NS(1)|biliary_tract(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	31						c.(91-93)cCg>cTg		MAP/microtubule affinity-regulating kinase 4							32	27	29					19																	45762287		2203	4300	6503	SO:0001583	missense	57787				microtubule bundle formation|nervous system development|positive regulation of programmed cell death	centrosome|neuron projection	ATP binding|gamma-tubulin binding|microtubule binding|protein serine/threonine kinase activity|tau-protein kinase activity|ubiquitin binding	g.chr19:45762287C>T	AB049127	CCDS12658.1, CCDS56097.1	19q13.32	2014-04-07	2002-06-12	2002-06-14	ENSG00000007047	ENSG00000007047	2.7.11.1		13538	protein-coding gene	gene with protein product		606495	"MAP/microtubule affinity-regulating kinase like 1"	MARKL1		23400999, 11326310, 9108484	Standard	NM_001199867		Approved	Nbla00650, FLJ90097, KIAA1860, PAR-1D	uc002paz.2	Q96L34	OTTHUMG00000181769	ENST00000262891.4:c.92C>T	19.37:g.45762287C>T	ENSP00000262891:p.Pro31Leu					MARK4_ENST00000262891.4_Missense_Mutation_p.P31L	p.P31L	NM_031417.3	NP_113605.2	Q96L34	MARK4_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0102)	2	389	+		all_neural(266;0.224)|Ovarian(192;0.231)	31					Q8NG37|Q96JG7|Q96SQ2|Q9BYD8	Missense_Mutation	SNP	ENST00000262891.4	37	c.92C>T	CCDS56097.1	.	.	.	.	.	.	.	.	.	.	C	16.97	3.270035	0.59540	.	.	ENSG00000007047	ENST00000262893;ENST00000262891;ENST00000300843	T;T	0.71698	-0.53;-0.59	4.88	3.84	0.44239	.	0.168708	0.38959	N	0.001518	T	0.55625	0.1932	N	0.24115	0.695	0.49051	D	0.999742	B;B	0.14012	0.002;0.009	B;B	0.09377	0.002;0.004	T	0.55147	-0.8186	10	0.62326	D	0.03	.	10.9592	0.47374	0.0:0.9089:0.0:0.0911	.	31;31	Q96L34;Q96L34-2	MARK4_HUMAN;.	L	31	ENSP00000262891:P31L;ENSP00000300843:P31L	ENSP00000262891:P31L	P	+	2	0	MARK4	50454127	1.000000	0.71417	0.464000	0.27143	0.966000	0.64601	5.494000	0.66905	1.284000	0.44531	0.555000	0.69702	CCG		0.672	MARK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457537.1	NM_031417		6	26	0	0	0	0.27861	0	6	26					T	45762287	C	T	45762287	3	4	36	1	0	0	0	0	1	0	0	0	9315	652	23	2	98	2	MARK4	19	45762287	Missense_Mutation	SNP	C	TCGA-CH-5771-01A-21D-1576-08		45762287	13366696	27	1959											
C19orf75	284369	broad.mit.edu	37	chr19	51768703	51768703	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cttccatgggattcccacacCctctgtgcagtggtggatgg	6	11	12	12	0	1	0	0	0	1	0	3	2	3	2	3	4	1	1	3	4	0	2			TCGA-CH-5771-01A-21D-1576-08	TCGA-CH-5771-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87e1ffee-a8cd-4d75-937e-ed415cf43546	d75f9a49-dfc3-493b-b9dd-4940d9803cfd	g.chr19:51768703C>T	ENST00000316401.7	+	3	485	c.104C>T	c.(103-105)cCc>cTc	p.P35L	SIGLECL1_ENST00000597824.1_Intron|SIGLECL1_ENST00000593968.1_Intron|CTD-3187F8.2_ENST00000597569.1_RNA	NM_173635.1	NP_775906.1	Q96PQ1	SIG12_HUMAN	SIGLEC family like 1	409	Ig-like V-type 1.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)	p.P35L(1)									ATTCCCACACCCTCTGTGCAG	0.587																																						ENST00000316401.7																			1	Substitution - Missense(1)	p.P35L(1)	prostate(1)								c.(103-105)cCc>cTc		SIGLEC family like 1							93	84	87					19																	51768703		2203	4300	6503	SO:0001583	missense	284369							g.chr19:51768703C>T	AK097554	CCDS12827.1	19q13.33	2013-03-20	2012-07-20	2012-07-20	ENSG00000179213	ENSG00000179213			26856	protein-coding gene	gene with protein product			"chromosome 19 open reading frame 75", "sialic acid binding Ig-like lectin 23, pseudogene", "sialic acid binding Ig-like lectin, pseudogene 7"	C19orf75, SIGLEC23P, SIGLECP7			Standard	NM_173635		Approved	FLJ40235	uc002pwb.1	Q8N7X8	OTTHUMG00000182881	ENST00000316401.7:c.104C>T	19.37:g.51768703C>T	ENSP00000321249:p.Pro35Leu					CTD-3187F8.2_ENST00000597569.1_RNA|SIGLECL1_ENST00000593968.1_Intron|SIGLECL1_ENST00000597824.1_Intron	p.P35L	NM_173635.1	NP_775906.1					3	485	+								Q8IYH7	Missense_Mutation	SNP	ENST00000316401.7	37	c.104C>T	CCDS12827.1	.	.	.	.	.	.	.	.	.	.	C	12.97	2.096586	0.36952	.	.	ENSG00000179213	ENST00000316401	D	0.86366	-2.11	3.81	2.77	0.32553	Immunoglobulin-like fold (1);	0.000000	0.37669	N	0.001994	D	0.92064	0.7485	M	0.83118	2.625	0.09310	N	0.999998	D	0.89917	1.0	D	0.91635	0.999	D	0.83599	0.0127	10	0.87932	D	0	-6.7576	7.2243	0.26005	0.0:0.8755:0.0:0.1245	.	35	Q8N7X8	CS075_HUMAN	L	35	ENSP00000321249:P35L	ENSP00000321249:P35L	P	+	2	0	C19orf75	56460515	0.001000	0.12720	0.109000	0.21407	0.449000	0.32228	0.609000	0.24238	0.923000	0.37045	0.650000	0.86243	CCC		0.587	SIGLECL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464161.2	NM_173635		29	152	0	0	0	0.717897	0	29	152					T	51768703	C	T	51768703	3	4	36	1	0	0	0	0	1	0	0	0	1949	623	22	3	110	3	C19orf75	19	51768703	Missense_Mutation	SNP	C	TCGA-CH-5771-01A-21D-1576-08	6006416	51768703	7360280	28	1960											
NPEPL1	79716	broad.mit.edu	37	chr20	57290253	57290253	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gccacaggcttcggtgtggcCctcctgctggcgctcttcgg	2	10	14	15	3	1	0	0	0	1	0	4	0	2	0	3	5	1	3	3	5	0	2			TCGA-CH-5771-01A-21D-1576-08	TCGA-CH-5771-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87e1ffee-a8cd-4d75-937e-ed415cf43546	d75f9a49-dfc3-493b-b9dd-4940d9803cfd	g.chr20:57290253C>T	ENST00000356091.6	+	12	1731	c.1443C>T	c.(1441-1443)gcC>gcT	p.A481A	NPEPL1_ENST00000525967.1_Silent_p.A453A|NPEPL1_ENST00000525817.1_Silent_p.A433A|STX16-NPEPL1_ENST00000530122.1_3'UTR	NM_024663.3	NP_078939.3	Q8NDH3	PEPL1_HUMAN	aminopeptidase-like 1	481						cytoplasm (GO:0005737)|nucleus (GO:0005634)	aminopeptidase activity (GO:0004177)|manganese ion binding (GO:0030145)|metalloexopeptidase activity (GO:0008235)	p.A481A(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)	14	all_lung(29;0.0175)		BRCA - Breast invasive adenocarcinoma(13;2.88e-09)|Colorectal(105;0.109)			TCGGTGTGGCCCTCCTGCTGG	0.672																																						ENST00000356091.6																			1	Substitution - coding silent(1)	p.A481A(1)	prostate(1)	endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)	14						c.(1441-1443)gcC>gcT		aminopeptidase-like 1							24	28	27					20																	57290253		2092	4213	6305	SO:0001819	synonymous_variant	79716				proteolysis	cytoplasm	aminopeptidase activity|manganese ion binding|metalloexopeptidase activity	g.chr20:57290253C>T	AK021645	CCDS46621.1, CCDS56200.1, CCDS56201.1	20q13.32	2008-07-02			ENSG00000215440	ENSG00000215440			16244	protein-coding gene	gene with protein product						14702039	Standard	NM_001204872		Approved	FLJ11583, bA261P9.2	uc010zzs.1	Q8NDH3	OTTHUMG00000033060	ENST00000356091.6:c.1443C>T	20.37:g.57290253C>T						STX16-NPEPL1_ENST00000530122.1_3'UTR|NPEPL1_ENST00000525967.1_Silent_p.A453A|NPEPL1_ENST00000525817.1_Silent_p.A433A	p.A481A	NM_024663.3	NP_078939.3	Q8NDH3	PEPL1_HUMAN	BRCA - Breast invasive adenocarcinoma(13;2.88e-09)|Colorectal(105;0.109)		12	1731	+	all_lung(29;0.0175)		481					A6NGZ0|B4DMW7|B7ZBN0|E9PN47|G5EA34|Q53G37|Q5W083|Q8TF28|Q8WUI2|Q9H1T6|Q9HAI5	Silent	SNP	ENST00000356091.6	37	c.1443C>T	CCDS46621.1																																																																																				0.672	NPEPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080402.6	NM_024663		5	9	0	0	0	0.184627	0	5	9					T	57290253	C	T	57290253	2	4	36	1	0	0	0	0	0	0	0	1	10574	610	22	3		3	NPEPL1	20	57290253	Silent	SNP	C	TCGA-CH-5771-01A-21D-1576-08		57290253	5735267	29	1961											
DMD	1756	broad.mit.edu	37	chrX	31676189	31676189	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atcatctgcagaataatcccGgagaagtttcagggccaagt	13	9	10	9	1	3	2	2	0	1	2	4	3	4	2	2	2	1	2	2	2	4	2			TCGA-CH-5771-01A-21D-1576-08	TCGA-CH-5771-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87e1ffee-a8cd-4d75-937e-ed415cf43546	d75f9a49-dfc3-493b-b9dd-4940d9803cfd	g.chrX:31676189G>A	ENST00000357033.4	-	54	8151	c.7945C>T	c.(7945-7947)Cgg>Tgg	p.R2649W	DMD_ENST00000378677.2_Missense_Mutation_p.R2645W|DMD_ENST00000541735.1_Missense_Mutation_p.R189W|DMD_ENST00000343523.2_Missense_Mutation_p.R189W|DMD_ENST00000359836.1_Missense_Mutation_p.R189W|DMD_ENST00000474231.1_Missense_Mutation_p.R189W|DMD_ENST00000378707.3_Missense_Mutation_p.R189W	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	2649					cardiac muscle cell action potential (GO:0086001)|cardiac muscle contraction (GO:0060048)|cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|extracellular matrix organization (GO:0030198)|motile cilium assembly (GO:0044458)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|peptide biosynthetic process (GO:0043043)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of heart rate (GO:0002027)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of skeletal muscle contraction (GO:0014819)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|regulation of voltage-gated calcium channel activity (GO:1901385)	cell junction (GO:0030054)|cell surface (GO:0009986)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dystrophin-associated glycoprotein complex (GO:0016010)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|syntrophin complex (GO:0016013)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|dystroglycan binding (GO:0002162)|myosin binding (GO:0017022)|nitric-oxide synthase binding (GO:0050998)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)	p.R189W(2)|p.R2645W(2)|p.R2644W(1)|p.R1308W(1)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				GAATAATCCCGGAGAAGTTTC	0.393																																						ENST00000357033.4																			6	Substitution - Missense(6)	p.R189W(2)|p.R2645W(2)|p.R2644W(1)|p.R1308W(1)	prostate(6)	NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77						c.(7945-7947)Cgg>Tgg		dystrophin							93	85	88					X																	31676189		2202	4300	6502	SO:0001583	missense	1756				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding	g.chrX:31676189G>A	AF047505	CCDS14231.1, CCDS14232.1, CCDS14233.1, CCDS14234.1, CCDS48091.1, CCDS55394.1, CCDS55395.1, CCDS75965.1	Xp21.2	2014-09-17	2008-08-01		ENSG00000198947	ENSG00000198947			2928	protein-coding gene	gene with protein product	"muscular dystrophy, Duchenne and Becker types"	300377	"dystrophin (muscular dystrophy, Duchenne and Becker types), includes DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272", "mental retardation, X-linked 85"	MRX85		3282674, 3607877, 23900271	Standard	NM_004019		Approved	BMD, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272	uc004dda.1	P11532	OTTHUMG00000021336	ENST00000357033.4:c.7945C>T	X.37:g.31676189G>A	ENSP00000354923:p.Arg2649Trp					DMD_ENST00000359836.1_Missense_Mutation_p.R189W|DMD_ENST00000343523.2_Missense_Mutation_p.R189W|DMD_ENST00000378707.3_Missense_Mutation_p.R189W|DMD_ENST00000378677.2_Missense_Mutation_p.R2645W|DMD_ENST00000541735.1_Missense_Mutation_p.R189W|DMD_ENST00000474231.1_Missense_Mutation_p.R189W	p.R2649W	NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN			54	8151	-		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)	2649					E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Missense_Mutation	SNP	ENST00000357033.4	37	c.7945C>T	CCDS14233.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	22.0|22.0	4.232620|4.232620	0.79688|0.79688	.|.	.|.	ENSG00000198947|ENSG00000198947	ENST00000465285|ENST00000534884;ENST00000378682;ENST00000378684;ENST00000358062;ENST00000378677;ENST00000357033;ENST00000359836;ENST00000343523;ENST00000542849;ENST00000535280;ENST00000378707;ENST00000541735;ENST00000474231	.|T;T;T;T;T;T;T;T	.|0.36157	.|1.27;1.27;1.27;1.27;1.27;1.27;1.27;1.27	5.29|5.29	4.41|4.41	0.53225|0.53225	.|.	.|0.000000	.|0.32901	.|U	.|0.005517	T|T	0.54983|0.54983	0.1892|0.1892	L|L	0.55481|0.55481	1.735|1.735	0.44104|0.44104	D|D	0.996873|0.996873	.|D;D;D;D;D;D;D;D;D;D	.|0.89917	.|0.996;1.0;1.0;1.0;1.0;0.999;0.999;0.999;1.0;0.999	.|D;D;D;D;D;D;D;D;D;D	.|0.87578	.|0.974;0.987;0.998;0.986;0.986;0.913;0.967;0.967;0.965;0.941	T|T	0.56697|0.56697	-0.7936|-0.7936	5|10	.|0.62326	.|D	.|0.03	.|.	14.442|14.442	0.67323|0.67323	0.0:0.0:0.8515:0.1485|0.0:0.0:0.8515:0.1485	.|.	.|2641;2649;2645;1308;1305;189;189;189;189;189	.|P11532-4;P11532;E9PDN5;E7EQS7;E7EQS6;F8VX32;E7ESB2;E7EQS5;E7EQR9;F5GZY3	.|.;DMD_HUMAN;.;.;.;.;.;.;.;.	L|W	377|2641;1308;1305;345;2645;2649;189;189;2649;2526;189;189;189	.|ENSP00000350765:R345W;ENSP00000367948:R2645W;ENSP00000354923:R2649W;ENSP00000352894:R189W;ENSP00000340057:R189W;ENSP00000367979:R189W;ENSP00000444119:R189W;ENSP00000417123:R189W	.|ENSP00000340057:R189W	P|R	-|-	2|1	0|2	DMD|DMD	31586110|31586110	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	4.447000|4.447000	0.60020|0.60020	0.987000|0.987000	0.38709|0.38709	0.529000|0.529000	0.55759|0.55759	CCG|CGG		0.393	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056182.2	NM_004006		38	113	0	0	0	0.796494	0	38	113					A	31676189	G	A	31676189	3	1	36	1	0	0	0	0	1	0	0	0	4580	1115	39	2	3364	2	DMD	23	31676189	Missense_Mutation	SNP	G	TCGA-CH-5771-01A-21D-1576-08		31676189	123594371	30	1962											
CDR1	1038	broad.mit.edu	37	chrX	139866376	139866376	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tccagcaaatccacgtcttcCaacaaagccatgtcttccat	12	10	4	15	1	2	0	0	0	2	0	6	0	6	0	5	0	3	1	5	0	3	2			TCGA-CH-5771-01A-21D-1576-08	TCGA-CH-5771-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87e1ffee-a8cd-4d75-937e-ed415cf43546	d75f9a49-dfc3-493b-b9dd-4940d9803cfd	g.chrX:139866376C>A	ENST00000370532.2	-	1	347	c.156G>T	c.(154-156)ttG>ttT	p.L52F		NM_004065.2	NP_004056.2	P51861	CDR1_HUMAN	cerebellar degeneration-related protein 1, 34kDa	52	23 X 6 AA approximate repeats.							p.L52F(1)		breast(1)|endometrium(3)|large_intestine(3)|lung(11)|prostate(2)|skin(4)|urinary_tract(1)	25	Acute lymphoblastic leukemia(192;7.65e-05)	Lung SC(4;0.051)				CCACGTCTTCCAACAAAGCCA	0.438																																						ENST00000370532.2																			1	Substitution - Missense(1)	p.L52F(1)	prostate(1)	breast(1)|endometrium(3)|large_intestine(3)|lung(11)|prostate(2)|skin(4)|urinary_tract(1)	25						c.(154-156)ttG>ttT		cerebellar degeneration-related protein 1, 34kDa							125	117	120					X																	139866376		2203	4300	6503	SO:0001583	missense	1038							g.chrX:139866376C>A		CCDS14670.1	Xq27.1	2013-06-13	2002-08-29		ENSG00000184258	ENSG00000184258			1798	protein-coding gene	gene with protein product	"Cerebellar degeneration-related protein-1 (34kD)"	302650	"cerebellar degeneration-related protein (34kD)"	CDR		2326268	Standard	NM_004065		Approved	CDR62A, CDR34	uc004fbg.1	P51861	OTTHUMG00000137398	ENST00000370532.2:c.156G>T	X.37:g.139866376C>A	ENSP00000359563:p.Leu52Phe						p.L52F	NM_004065.2	NP_004056.2	P51861	CDR1_HUMAN			1	347	-	Acute lymphoblastic leukemia(192;7.65e-05)	Lung SC(4;0.051)	52			23 X 6 AA approximate repeats.		Q5JXH6	Missense_Mutation	SNP	ENST00000370532.2	37	c.156G>T	CCDS14670.1	.	.	.	.	.	.	.	.	.	.	C	15.71	2.914580	0.52546	.	.	ENSG00000184258	ENST00000370532	T	0.29397	1.57	4.45	3.31	0.37934	.	.	.	.	.	T	0.33235	0.0856	N	0.19112	0.55	0.25724	N	0.985345	D	0.76494	0.999	D	0.87578	0.998	T	0.12451	-1.0547	8	.	.	.	.	4.0306	0.09708	0.0:0.6595:0.0:0.3405	.	52	P51861	CDR1_HUMAN	F	52	ENSP00000359563:L52F	.	L	-	3	2	CDR1	139694042	0.009000	0.17119	0.979000	0.43373	0.050000	0.14768	0.586000	0.23894	1.940000	0.56252	0.544000	0.68410	TTG		0.438	CDR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058583.1	NM_004065		37	101	1	0	1.26612e-14	0.779181	1.56757e-14	37	101					A	139866376	C	A	139866376	3	1	36	1	0	0	0	0	1	0	0	0	3171	593	21	5	636	5	CDR1	23	139866376	Missense_Mutation	SNP	C	TCGA-CH-5771-01A-21D-1576-08	108190187	139866376	15404184	31	1963											
RHD	6007	broad.mit.edu	37	chr1	25617207	25617207	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttggggaaggtcaacttggcGcagttggtggtgatggtgct	6	12	18	5	1	1	1	1	1	0	0	1	2	1	2	0	7	2	3	0	7	2	3			TCGA-CH-5772-01A-11D-1576-08	TCGA-CH-5772-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a94aed7-03d7-463d-bb87-bca2994f297d	87c4609d-4743-435b-8e1c-b5187a750224	g.chr1:25617207G>A	ENST00000328664.4	+	3	566	c.411G>A	c.(409-411)gcG>gcA	p.A137A	RHD_ENST00000568195.1_Silent_p.A137A|RHD_ENST00000454452.2_Silent_p.A137A|RHD_ENST00000357542.4_Silent_p.A137A|RHD_ENST00000423253.1_3'UTR|RHD_ENST00000342055.5_Silent_p.A137A|RHD_ENST00000423810.2_Silent_p.A137A|RHD_ENST00000417538.2_Silent_p.A137A	NM_001282867.1|NM_016124.3	NP_001269796.1|NP_057208	Q02161	RHD_HUMAN	Rh blood group, D antigen	137						integral component of plasma membrane (GO:0005887)	ammonium transmembrane transporter activity (GO:0008519)	p.A137A(1)		breast(2)|large_intestine(4)|lung(7)|prostate(1)	14		Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0101)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0415)|OV - Ovarian serous cystadenocarcinoma(117;7.39e-27)|Colorectal(126;8.83e-09)|COAD - Colon adenocarcinoma(152;6.43e-07)|STAD - Stomach adenocarcinoma(196;0.000332)|BRCA - Breast invasive adenocarcinoma(304;0.000438)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|GBM - Glioblastoma multiforme(114;0.000908)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		TCAACTTGGCGCAGTTGGTGG	0.557																																						ENST00000328664.4																			1	Substitution - coding silent(1)	p.A137A(1)	prostate(1)	breast(2)|large_intestine(4)|lung(7)|prostate(1)	14						c.(409-411)gcG>gcA		Rh blood group, D antigen							222	147	174					1																	25617207		2150	3789	5939	SO:0001819	synonymous_variant	6007					integral to plasma membrane		g.chr1:25617207G>A	AB012623	CCDS262.1, CCDS53285.1, CCDS60027.1, CCDS60028.1, CCDS60029.1, CCDS60030.1, CCDS60031.1	1p36.11	2014-07-19	2013-10-02		ENSG00000187010	ENSG00000187010		"CD molecules", "Blood group antigens"	10009	protein-coding gene	gene with protein product		111680	"Rhesus blood group, D antigen", "Rh blood group, D antigen"	RH		8220426	Standard	NM_016124		Approved	Rh30a, Rh4, RhPI, RhII, DIIIc, CD240D	uc001bjz.3	Q02161	OTTHUMG00000003476	ENST00000328664.4:c.411G>A	1.37:g.25617207G>A						RHD_ENST00000454452.2_Silent_p.A137A|RHD_ENST00000423810.2_Silent_p.A137A|RHD_ENST00000342055.5_Silent_p.A137A|RHD_ENST00000423253.1_3'UTR|RHD_ENST00000357542.4_Silent_p.A137A|RHD_ENST00000568195.1_Silent_p.A137A|RHD_ENST00000417538.2_Silent_p.A137A	p.A137A	NM_016124.3	NP_057208.2	Q02161	RHD_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0415)|OV - Ovarian serous cystadenocarcinoma(117;7.39e-27)|Colorectal(126;8.83e-09)|COAD - Colon adenocarcinoma(152;6.43e-07)|STAD - Stomach adenocarcinoma(196;0.000332)|BRCA - Breast invasive adenocarcinoma(304;0.000438)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|GBM - Glioblastoma multiforme(114;0.000908)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)	3	566	+		Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0101)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)	137					Q02162|Q07618|Q16147|Q16235|Q16355|Q5VSK0|Q5XLS9|Q5XLT1|Q5XLT2|Q9NPK0|Q9UQ20|Q9UQ21|Q9UQ22|Q9UQ23	Silent	SNP	ENST00000328664.4	37	c.411G>A	CCDS262.1																																																																																				0.557	RHD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009660.5	NM_016124		4	73	0	0	0	0.150653	0	4	73					A	25617207	G	A	25617207	2	1	37	1	0	0	0	0	0	0	0	1	13327	1074	38	1		1	RHD	1	25617207	Silent	SNP	G	TCGA-CH-5772-01A-11D-1576-08		25617207	223633414	1	1964											
TMEM56	148534	broad.mit.edu	37	chr1	95616924	95616924	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tggaaagtgattggtgacaaAttttttataatgcatcattg	13	16	9	3	0	1	2	1	2	0	0	1	3	1	3	0	2	1	1	0	2	4	6			TCGA-CH-5772-01A-11D-1576-08	TCGA-CH-5772-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a94aed7-03d7-463d-bb87-bca2994f297d	87c4609d-4743-435b-8e1c-b5187a750224	g.chr1:95616924A>T	ENST00000370203.4	+	5	639	c.348A>T	c.(346-348)aaA>aaT	p.K116N	RP11-57H12.6_ENST00000604534.1_Missense_Mutation_p.K116N	NM_001199679.1|NM_152487.2	NP_001186608.1|NP_689700.1	Q96MV1	TMM56_HUMAN	transmembrane protein 56	116	TLC. {ECO:0000255|PROSITE- ProRule:PRU00205}.					integral component of membrane (GO:0016021)		p.K116N(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(2)|skin(1)|urinary_tract(1)	12		all_lung(203;0.0232)|Lung NSC(277;0.0739)		all cancers(265;0.133)		TTGGTGACAAATTTTTTATAA	0.348																																						ENST00000370203.4																			1	Substitution - Missense(1)	p.K116N(1)	prostate(1)	breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(2)|skin(1)|urinary_tract(1)	12						c.(346-348)aaA>aaT		transmembrane protein 56							153	144	148					1																	95616924		2203	4300	6503	SO:0001583	missense	148534					integral to membrane		g.chr1:95616924A>T		CCDS753.1	1p21.3	2008-02-05			ENSG00000152078	ENSG00000152078			26477	protein-coding gene	gene with protein product							Standard	NM_152487		Approved	FLJ31842	uc001drb.3	Q96MV1	OTTHUMG00000010847	ENST00000370203.4:c.348A>T	1.37:g.95616924A>T	ENSP00000359222:p.Lys116Asn					RP11-57H12.6_ENST00000604534.1_Missense_Mutation_p.K116N	p.K116N	NM_001199679.1|NM_152487.2	NP_001186608.1|NP_689700.1	Q96MV1	TMM56_HUMAN		all cancers(265;0.133)	5	639	+		all_lung(203;0.0232)|Lung NSC(277;0.0739)	116			TLC.		B2RPI2|D3DT48	Missense_Mutation	SNP	ENST00000370203.4	37	c.348A>T	CCDS753.1	.	.	.	.	.	.	.	.	.	.	A	11.37	1.617331	0.28801	.	.	ENSG00000152078	ENST00000370203;ENST00000456991;ENST00000455656	D;D;D	0.85411	-1.98;-1.98;-1.98	5.46	-3.47	0.04753	TRAM/LAG1/CLN8 homology domain (3);	0.174809	0.53938	D	0.000054	T	0.60366	0.2263	M	0.62723	1.935	0.46149	D	0.998897	B;B	0.20368	0.02;0.044	B;B	0.21917	0.025;0.037	T	0.31251	-0.9950	9	0.27785	T	0.31	-0.8329	2.9458	0.05846	0.4671:0.111:0.313:0.1088	.	116;116	C9JJM2;Q96MV1	.;TMM56_HUMAN	N	116	ENSP00000359222:K116N;ENSP00000395364:K116N;ENSP00000417043:K116N	ENSP00000359222:K116N	K	+	3	2	TMEM56	95389512	0.880000	0.30214	0.060000	0.19600	0.703000	0.40648	0.499000	0.22546	-0.505000	0.06568	-0.385000	0.06624	AAA		0.348	TMEM56-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029935.1	NM_152487		7	188	0	0	0	0.248553	0	7	188					T	95616924	A	T	95616924	3	4	37	1	0	0	0	0	1	0	0	0	16180	98	4	5	362	5	TMEM56	1	95616924	Missense_Mutation	SNP	A	TCGA-CH-5772-01A-11D-1576-08	69999717	95616924	153633697	2	1965											
S100A7A	338324	broad.mit.edu	37	chr1	153391728	153391728	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tccttgctgggagacatagcCgcagactaccacaagcagag	12	6	11	12	1	0	3	0	0	0	3	1	4	1	3	3	1	4	3	3	1	3	3			TCGA-CH-5772-01A-11D-1576-08	TCGA-CH-5772-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a94aed7-03d7-463d-bb87-bca2994f297d	87c4609d-4743-435b-8e1c-b5187a750224	g.chr1:153391728C>T	ENST00000368729.4	+	3	306	c.249C>T	c.(247-249)gcC>gcT	p.A83A	S100A7A_ENST00000329256.2_Silent_p.A83A|S100A7A_ENST00000368728.2_Silent_p.A83A	NM_176823.3	NP_789793.1	Q86SG5	S1A7A_HUMAN	S100 calcium binding protein A7A	83	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.					cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|protein self-association (GO:0043621)	p.A83A(2)		cervix(1)|endometrium(3)|kidney(1)|lung(3)|prostate(1)|skin(2)|stomach(1)	12	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.171)			GAGACATAGCCGCAGACTACC	0.522																																						ENST00000368729.4																			2	Substitution - coding silent(2)	p.A83A(2)	prostate(1)|endometrium(1)	cervix(1)|endometrium(3)|kidney(1)|lung(3)|prostate(1)|skin(2)|stomach(1)	12						c.(247-249)gcC>gcT		S100 calcium binding protein A7A							84	79	81					1																	153391728		2203	4300	6503	SO:0001819	synonymous_variant	338324					cytoplasm	calcium ion binding	g.chr1:153391728C>T	AY189118	CCDS30872.1	1q22	2013-01-10	2006-09-11	2006-09-11	ENSG00000184330	ENSG00000184330		"S100 calcium binding proteins", "EF-hand domain containing"	21657	protein-coding gene	gene with protein product			"S100 calcium binding protein A15", "S100 calcium binding protein A7-like 1"	S100A15, S100A7L1		11230159	Standard	NM_176823		Approved	S100A7f	uc001fbt.1	Q86SG5	OTTHUMG00000013122	ENST00000368729.4:c.249C>T	1.37:g.153391728C>T						S100A7A_ENST00000329256.2_Silent_p.A83A|S100A7A_ENST00000368728.2_Silent_p.A83A	p.A83A	NM_176823.3	NP_789793.1	Q86SG5	S1A7A_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		3	306	+	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		83			EF-hand 2.		D3DV38|Q5SY69	Silent	SNP	ENST00000368729.4	37	c.249C>T	CCDS30872.1																																																																																				0.522	S100A7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036786.2	NM_176823		6	104	0	0	0	0.217242	0	6	104					T	153391728	C	T	153391728	2	4	37	1	0	0	0	0	0	0	0	1	13784	639	23	2		2	S100A7A	1	153391728	Silent	SNP	C	TCGA-CH-5772-01A-11D-1576-08	57774804	153391728	95858893	3	1966											
ADAM15	8751	broad.mit.edu	37	chr1	155028577	155028577	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcttccggcccctgaatgtaCgagtggcactagtgggcctg	6	10	13	12	2	1	1	0	1	1	0	2	2	2	1	4	3	1	2	4	3	3	3	rs368171331		TCGA-CH-5772-01A-11D-1576-08	TCGA-CH-5772-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a94aed7-03d7-463d-bb87-bca2994f297d	87c4609d-4743-435b-8e1c-b5187a750224	g.chr1:155028577C>T	ENST00000356955.2	+	9	867	c.766C>T	c.(766-768)Cga>Tga	p.R256*	ADAM15_ENST00000531455.1_Nonsense_Mutation_p.R266*|ADAM15_ENST00000472434.1_3'UTR|ADAM15_ENST00000355956.2_Nonsense_Mutation_p.R256*|ADAM15_ENST00000368412.3_Nonsense_Mutation_p.R256*|ADAM15_ENST00000449910.2_Nonsense_Mutation_p.R256*|ADAM15_ENST00000271836.6_Nonsense_Mutation_p.R256*|ADAM15_ENST00000360674.4_Nonsense_Mutation_p.R256*|ADAM15_ENST00000368410.2_Intron|ADAM15_ENST00000368413.1_Intron|ADAM15_ENST00000359280.4_Nonsense_Mutation_p.R256*|ADAM15_ENST00000447332.3_Nonsense_Mutation_p.R240*	NM_207197.2	NP_997080.1	Q13444	ADA15_HUMAN	ADAM metallopeptidase domain 15	256	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				angiogenesis (GO:0001525)|cardiac epithelial to mesenchymal transition (GO:0060317)|cell-matrix adhesion (GO:0007160)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of receptor binding (GO:1900121)|protein kinase C signaling (GO:0070528)|tissue regeneration (GO:0042246)	cell junction (GO:0030054)|cell projection (GO:0042995)|cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|SH3 domain binding (GO:0017124)|zinc ion binding (GO:0008270)	p.R256*(1)		NS(1)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(5)|urinary_tract(1)	39	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.000434)			CCTGAATGTACGAGTGGCACT	0.627																																						ENST00000356955.2																			1	Substitution - Nonsense(1)	p.R256*(1)	prostate(1)	NS(1)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(5)|urinary_tract(1)	39						c.(766-768)Cga>Tga		ADAM metallopeptidase domain 15		C	stop/ARG,stop/ARG,stop/ARG,stop/ARG,stop/ARG,stop/ARG	1,4405	2.1+/-5.4	0,1,2202	72	73	72		766,766,766,766,766,766	4.9	0.5	1		72	1,8599	1.2+/-3.3	0,1,4299	no	stop-gained,stop-gained,stop-gained,stop-gained,stop-gained,stop-gained	ADAM15	NM_003815.3,NM_207191.1,NM_207194.1,NM_207195.1,NM_207196.1,NM_207197.1	,,,,,	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	,,,,,	256/815,256/773,256/840,256/839,256/863,256/864	155028577	2,13004	2203	4300	6503	SO:0001587	stop_gained	8751				angiogenesis|cell-matrix adhesion|collagen catabolic process|proteolysis	acrosomal vesicle|adherens junction|endomembrane system|flagellum|integral to membrane	metalloendopeptidase activity|SH3 domain binding|zinc ion binding	g.chr1:155028577C>T	U46005	CCDS1084.1, CCDS1085.1, CCDS1086.1, CCDS1087.1, CCDS1088.1, CCDS44236.1, CCDS58031.1, CCDS58032.1, CCDS60282.1	1q21.3	2008-02-05	2007-06-04		ENSG00000143537	ENSG00000143537		"ADAM metallopeptidase domain containing"	193	protein-coding gene	gene with protein product	"metargidin"	605548	"a disintegrin and metalloproteinase domain 15 (metargidin)"			9516430	Standard	NM_003815		Approved	MDC15	uc001fgr.2	Q13444	OTTHUMG00000013898	ENST00000356955.2:c.766C>T	1.37:g.155028577C>T	ENSP00000349436:p.Arg256*					ADAM15_ENST00000531455.1_Nonsense_Mutation_p.R266*|ADAM15_ENST00000359280.4_Nonsense_Mutation_p.R256*|ADAM15_ENST00000447332.3_Nonsense_Mutation_p.R240*|ADAM15_ENST00000368410.2_Intron|ADAM15_ENST00000368412.3_Nonsense_Mutation_p.R256*|ADAM15_ENST00000368413.1_Intron|ADAM15_ENST00000355956.2_Nonsense_Mutation_p.R256*|ADAM15_ENST00000360674.4_Nonsense_Mutation_p.R256*|ADAM15_ENST00000472434.1_3'UTR|ADAM15_ENST00000449910.2_Nonsense_Mutation_p.R256*|ADAM15_ENST00000271836.6_Nonsense_Mutation_p.R256*	p.R256*	NM_207197.2	NP_997080.1	Q13444	ADA15_HUMAN	BRCA - Breast invasive adenocarcinoma(34;0.000434)		9	867	+	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		256			Peptidase M12B.		B3KQU5|B4DLB5|B4DMH8|E9PN65|Q13493|Q53XQ0|Q5SR68|Q5SR69|Q6R267|Q71S61|Q71S62|Q71S63|Q71S64|Q71S65|Q71S66|Q71S67|Q71S68|Q71S69|Q96C78|U3KQL5	Nonsense_Mutation	SNP	ENST00000356955.2	37	c.766C>T	CCDS1087.1	.	.	.	.	.	.	.	.	.	.	C	38	6.861125	0.97893	2.27E-4	1.16E-4	ENSG00000143537	ENST00000356955;ENST00000449910;ENST00000359280;ENST00000360674;ENST00000368412;ENST00000355956;ENST00000271836;ENST00000531455	.	.	.	4.95	4.95	0.65309	.	0.000000	0.37348	N	0.002133	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.7279	0.77777	0.0:1.0:0.0:0.0	.	.	.	.	X	256;256;256;256;256;256;256;266	.	ENSP00000271836:R256X	R	+	1	2	ADAM15	153295201	1.000000	0.71417	0.500000	0.27589	0.981000	0.71138	4.542000	0.60677	2.557000	0.86248	0.462000	0.41574	CGA		0.627	ADAM15-019	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000387168.1	NM_003815		19	137	0	0	0	0.575678	0	19	137					T	155028577	C	T	155028577	4	4	37	1	0	0	0	0	0	1	0	0	237	528	19	1	800	1	ADAM15	1	155028577	Nonsense_Mutation	SNP	C	TCGA-CH-5772-01A-11D-1576-08	1636849	155028577	94222044	4	1967											
OR6N1	128372	broad.mit.edu	37	chr1	158736387	158736387	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtaaatgagaagcaacaagAggaagagataaatctggaca	20	5	12	4	0	1	3	0	1	1	3	1	7	1	5	0	3	2	2	0	3	8	2			TCGA-CH-5772-01A-11D-1576-08	TCGA-CH-5772-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a94aed7-03d7-463d-bb87-bca2994f297d	87c4609d-4743-435b-8e1c-b5187a750224	g.chr1:158736387A>T	ENST00000335094.2	-	1	105	c.86T>A	c.(85-87)cTc>cAc	p.L29H		NM_001005185.1	NP_001005185.1	Q8NGY5	OR6N1_HUMAN	olfactory receptor, family 6, subfamily N, member 1	29						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L29H(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	54	all_hematologic(112;0.0378)					AAGCAACAAGAGGAAGAGATA	0.502																																						ENST00000335094.2																			1	Substitution - Missense(1)	p.L29H(1)	prostate(1)	breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	54						c.(85-87)cTc>cAc		olfactory receptor, family 6, subfamily N, member 1							80	78	79					1																	158736387		2203	4300	6503	SO:0001583	missense	128372				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158736387A>T	BK004199	CCDS30905.1	1q23.1	2012-08-09			ENSG00000197403	ENSG00000197403		"GPCR / Class A : Olfactory receptors"	15034	protein-coding gene	gene with protein product							Standard	NM_001005185		Approved		uc010piq.2	Q8NGY5	OTTHUMG00000022774	ENST00000335094.2:c.86T>A	1.37:g.158736387A>T	ENSP00000335535:p.Leu29His						p.L29H	NM_001005185.1	NP_001005185.1	Q8NGY5	OR6N1_HUMAN			1	105	-	all_hematologic(112;0.0378)		29					Q5VUU8|Q96R35	Missense_Mutation	SNP	ENST00000335094.2	37	c.86T>A	CCDS30905.1	.	.	.	.	.	.	.	.	.	.	A	6.089	0.384657	0.11524	.	.	ENSG00000197403	ENST00000335094	T	0.00458	7.28	5.1	3.98	0.46160	.	1.053140	0.07544	N	0.914356	T	0.00328	0.0010	M	0.84948	2.725	0.09310	N	1	P	0.39624	0.681	B	0.39971	0.315	T	0.47209	-0.9135	10	0.37606	T	0.19	-2.354	9.8994	0.41338	0.9185:0.0:0.0815:0.0	.	29	Q8NGY5	OR6N1_HUMAN	H	29	ENSP00000335535:L29H	ENSP00000335535:L29H	L	-	2	0	OR6N1	157003011	0.000000	0.05858	0.015000	0.15790	0.050000	0.14768	0.318000	0.19504	0.955000	0.37878	0.533000	0.62120	CTC		0.502	OR6N1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059067.1	NM_001005185		4	88	0	0	0	0.150653	0	4	88					T	158736387	A	T	158736387	3	4	37	1	0	0	0	0	1	0	0	0	11206	304	11	5	855	5	OR6N1	1	158736387	Missense_Mutation	SNP	A	TCGA-CH-5772-01A-11D-1576-08	3707810	158736387	90514234	5	1968											
AIM2	9447	broad.mit.edu	37	chr1	159038445	159038445	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gcagcaggactcatttcagcTtgacttagtggctttggttt	7	15	11	8	0	2	1	2	1	0	0	2	2	2	2	0	3	2	5	0	3	1	5			TCGA-CH-5772-01A-11D-1576-08	TCGA-CH-5772-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a94aed7-03d7-463d-bb87-bca2994f297d	87c4609d-4743-435b-8e1c-b5187a750224	g.chr1:159038445T>G	ENST00000368130.4	-	3	597	c.309A>C	c.(307-309)caA>caC	p.Q103H	AIM2_ENST00000411768.1_5'UTR	NM_004833.1	NP_004824.1	O14862	AIM2_HUMAN	absent in melanoma 2	103					activation of innate immune response (GO:0002218)|apoptotic process (GO:0006915)|cellular response to drug (GO:0035690)|cellular response to interferon-beta (GO:0035458)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-1 beta secretion (GO:0050702)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of cysteine-type endopeptidase activity (GO:2001056)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of interleukin-1 beta production (GO:0032731)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein oligomerization (GO:0032461)|pyroptosis (GO:0070269)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	AIM2 inflammasome complex (GO:0097169)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|identical protein binding (GO:0042802)	p.Q103H(1)		breast(1)|large_intestine(1)|lung(7)|ovary(2)|pancreas(2)|prostate(2)|skin(1)	16	all_hematologic(112;0.0429)					TCATTTCAGCTTGACTTAGTG	0.408																																						ENST00000368130.4																			1	Substitution - Missense(1)	p.Q103H(1)	prostate(1)	breast(1)|large_intestine(1)|lung(7)|ovary(2)|pancreas(2)|prostate(2)|skin(1)	16						c.(307-309)caA>caC		absent in melanoma 2							255	208	224					1																	159038445		2203	4300	6503	SO:0001583	missense	9447				cellular response to drug|immune response|interleukin-1 beta secretion	mitochondrion|nucleus		g.chr1:159038445T>G	AF024714	CCDS1181.1	1q22	2008-07-18			ENSG00000163568	ENSG00000163568			357	protein-coding gene	gene with protein product		604578				9242382	Standard	NM_004833		Approved	PYHIN4	uc001ftj.1	O14862	OTTHUMG00000037183	ENST00000368130.4:c.309A>C	1.37:g.159038445T>G	ENSP00000357112:p.Gln103His					AIM2_ENST00000481829.1_5'UTR	p.Q103H	NM_004833.1	NP_004824.1	O14862	AIM2_HUMAN			3	597	-	all_hematologic(112;0.0429)		103					A8K7M7|Q5T3V9|Q96FG9	Missense_Mutation	SNP	ENST00000368130.4	37	c.309A>C	CCDS1181.1	.	.	.	.	.	.	.	.	.	.	T	11.86	1.763835	0.31228	.	.	ENSG00000163568	ENST00000368130;ENST00000411768	T;T	0.36878	2.91;1.23	2.51	-0.0424	0.13863	.	.	.	.	.	T	0.06325	0.0163	N	0.24115	0.695	0.09310	N	1	P	0.34977	0.478	B	0.24974	0.057	T	0.23013	-1.0200	9	0.52906	T	0.07	.	2.5303	0.04701	0.0:0.1844:0.2871:0.5285	.	103	O14862	AIM2_HUMAN	H	103	ENSP00000357112:Q103H;ENSP00000405197:Q103H	ENSP00000357112:Q103H	Q	-	3	2	AIM2	157305069	0.039000	0.19947	0.020000	0.16555	0.048000	0.14542	-0.089000	0.11180	-0.027000	0.13873	0.459000	0.35465	CAA		0.408	AIM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090341.1	NM_004833		7	266	0	0	0	0.27861	0	7	266					G	159038445	T	G	159038445	3	3	37	1	0	0	0	0	1	0	0	0	432	1606	56	5	738	5	AIM2	1	159038445	Missense_Mutation	SNP	T	TCGA-CH-5772-01A-11D-1576-08	302058	159038445	90212176	6	1969											
DTL	51514	broad.mit.edu	37	chr1	212274088	212274088	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gccaagttgaaaatcttcatTtggatctgtgctgccttgct	8	15	9	9	0	3	1	1	1	2	0	3	2	3	2	2	1	3	3	2	1	3	4			TCGA-CH-5772-01A-11D-1576-08	TCGA-CH-5772-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a94aed7-03d7-463d-bb87-bca2994f297d	87c4609d-4743-435b-8e1c-b5187a750224	g.chr1:212274088T>C	ENST00000366991.4	+	14	2070	c.1756T>C	c.(1756-1758)Ttg>Ctg	p.L586L	RN7SKP98_ENST00000517070.1_RNA|DTL_ENST00000475419.1_3'UTR|DTL_ENST00000542077.1_Silent_p.L544L	NM_016448.2	NP_057532.2	Q9NZJ0	DTL_HUMAN	denticleless E3 ubiquitin protein ligase homolog (Drosophila)	586					cellular response to DNA damage stimulus (GO:0006974)|DNA replication (GO:0006260)|G2 DNA damage checkpoint (GO:0031572)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|regulation of cell cycle (GO:0051726)|response to UV (GO:0009411)|translesion synthesis (GO:0019985)|ubiquitin-dependent protein catabolic process (GO:0006511)	centrosome (GO:0005813)|chromosome (GO:0005694)|Cul4A-RING E3 ubiquitin ligase complex (GO:0031464)|Cul4B-RING E3 ubiquitin ligase complex (GO:0031465)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)		p.L586L(1)		breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|lung(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(81;0.00796)|all cancers(67;0.0385)|Epithelial(68;0.102)		AAATCTTCATTTGGATCTGTG	0.453																																						ENST00000366991.4																			1	Substitution - coding silent(1)	p.L586L(1)	prostate(1)	breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|lung(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23						c.(1756-1758)Ttg>Ctg		denticleless E3 ubiquitin protein ligase homolog (Drosophila)							120	119	119					1																	212274088		2203	4300	6503	SO:0001819	synonymous_variant	51514				DNA replication|G2/M transition DNA damage checkpoint|protein monoubiquitination|protein polyubiquitination|response to UV|translesion synthesis|ubiquitin-dependent protein catabolic process	centrosome|Cul4A-RING ubiquitin ligase complex|Cul4B-RING ubiquitin ligase complex|nuclear membrane	protein binding	g.chr1:212274088T>C	AF195765	CCDS1502.1, CCDS65778.1	1q32	2013-01-10	2012-02-23		ENSG00000143476	ENSG00000143476		"DDB1 and CUL4 associated factors", "WD repeat domain containing"	30288	protein-coding gene	gene with protein product	"RA regulated nuclear matrix associated protein", "DDB1 and CUL4 associated factor 2"	610617	"denticleless homolog (Drosophila)"			11278750	Standard	NM_001286229		Approved	RAMP, L2DTL, DCAF2	uc009xdc.3	Q9NZJ0	OTTHUMG00000037133	ENST00000366991.4:c.1756T>C	1.37:g.212274088T>C						DTL_ENST00000542077.1_Silent_p.L544L|DTL_ENST00000475419.1_3'UTR	p.L586L	NM_016448.2	NP_057532.2	Q9NZJ0	DTL_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.00796)|all cancers(67;0.0385)|Epithelial(68;0.102)	14	2070	+			586					A8K8H8|D3DT98|Q5VT77|Q96SN0|Q9NW03|Q9NW34|Q9NWM5	Silent	SNP	ENST00000366991.4	37	c.1756T>C	CCDS1502.1																																																																																				0.453	DTL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090182.1	NM_016448		16	169	0	0	0	0.479597	0	16	169					C	212274088	T	C	212274088	2	2	37	1	0	0	0	0	0	0	0	1	4787	1838	64	4		4	DTL	1	212274088	Silent	SNP	T	TCGA-CH-5772-01A-11D-1576-08	53235643	212274088	36976533	7	1970											
OR2T33	391195	broad.mit.edu	37	chr1	248437020	248437020	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gccaaacagggaggtcaaaaCgatactcagaaccatcatga	17	5	9	10	1	3	2	3	1	0	1	3	4	3	3	2	2	4	0	2	2	5	1	rs138653777		TCGA-CH-5772-01A-11D-1576-08	TCGA-CH-5772-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a94aed7-03d7-463d-bb87-bca2994f297d	87c4609d-4743-435b-8e1c-b5187a750224	g.chr1:248437020C>T	ENST00000318021.2	-	1	118	c.97G>A	c.(97-99)Gtt>Att	p.V33I		NM_001004695.1	NP_001004695.1	Q8NG76	O2T33_HUMAN	olfactory receptor, family 2, subfamily T, member 33	33						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V33I(1)		NS(2)|breast(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(41)|ovary(1)|prostate(1)|skin(4)	67	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			GAGGTCAAAACGATACTCAGA	0.478																																						ENST00000318021.2																			1	Substitution - Missense(1)	p.V33I(1)	prostate(1)	NS(2)|breast(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(41)|ovary(1)|prostate(1)|skin(4)	67						c.(97-99)Gtt>Att		olfactory receptor, family 2, subfamily T, member 33		C	ILE/VAL	0,4396		0,0,2198	43	44	44		97	-3	0	1	dbSNP_134	44	1,8591		0,1,4295	no	missense	OR2T33	NM_001004695.1	29	0,1,6493	TT,TC,CC		0.0116,0.0,0.0077	benign	33/321	248437020	1,12987	2198	4296	6494	SO:0001583	missense	391195				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248437020C>T		CCDS31109.1	1q44	2012-08-09			ENSG00000177212	ENSG00000177212		"GPCR / Class A : Olfactory receptors"	31255	protein-coding gene	gene with protein product							Standard	NM_001004695		Approved		uc010pzi.2	Q8NG76	OTTHUMG00000040458	ENST00000318021.2:c.97G>A	1.37:g.248437020C>T	ENSP00000324687:p.Val33Ile						p.V33I	NM_001004695.1	NP_001004695.1	Q8NG76	O2T33_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0245)		1	118	-	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		33					B2RNN0	Missense_Mutation	SNP	ENST00000318021.2	37	c.97G>A	CCDS31109.1	.	.	.	.	.	.	.	.	.	.	-	10.64	1.408033	0.25378	0.0	1.16E-4	ENSG00000177212	ENST00000318021	T	0.02974	4.09	2.7	-2.99	0.05497	.	1.089080	0.07304	U	0.874565	T	0.01765	0.0056	N	0.19112	0.55	0.09310	N	1	P	0.34909	0.475	B	0.26416	0.069	T	0.44997	-0.9291	10	0.87932	D	0	.	4.1255	0.10125	0.5365:0.2124:0.0:0.2511	.	33	Q8NG76	O2T33_HUMAN	I	33	ENSP00000324687:V33I	ENSP00000324687:V33I	V	-	1	0	OR2T33	246503643	0.006000	0.16342	0.000000	0.03702	0.001000	0.01503	1.406000	0.34646	-0.368000	0.08040	0.494000	0.49563	GTT		0.478	OR2T33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097354.1	NM_001004695		5	171	0	0	0	0.307466	0	5	171					T	248437020	C	T	248437020	3	4	37	1	0	0	0	0	1	0	0	0	11024	536	19	1	868	1	OR2T33	1	248437020	Missense_Mutation	SNP	C	TCGA-CH-5772-01A-11D-1576-08	36162932	248437020	813601	8	1971											
OR2T6	254879	broad.mit.edu	37	chr1	248551359	248551359	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atcctggccagctcttggttCggtggggctttggacagttt	4	14	14	9	1	1	0	0	0	1	0	3	1	2	1	2	6	1	4	2	6	0	4			TCGA-CH-5772-01A-11D-1576-08	TCGA-CH-5772-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a94aed7-03d7-463d-bb87-bca2994f297d	87c4609d-4743-435b-8e1c-b5187a750224	g.chr1:248551359C>T	ENST00000355728.2	+	1	450	c.450C>T	c.(448-450)ttC>ttT	p.F150F		NM_001005471.1	NP_001005471.1	Q8NHC8	OR2T6_HUMAN	olfactory receptor, family 2, subfamily T, member 6	150						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.F150F(1)		endometrium(3)|large_intestine(5)|lung(38)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GCTCTTGGTTCGGTGGGGCTT	0.557																																						ENST00000355728.2																			1	Substitution - coding silent(1)	p.F150F(1)	prostate(1)	endometrium(3)|large_intestine(5)|lung(38)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55						c.(448-450)ttC>ttT		olfactory receptor, family 2, subfamily T, member 6							82	78	79					1																	248551359		2203	4300	6503	SO:0001819	synonymous_variant	254879				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248551359C>T	AF399481	CCDS31114.1	1q44	2012-08-09		2004-03-10	ENSG00000198104	ENSG00000198104		"GPCR / Class A : Olfactory receptors"	15018	protein-coding gene	gene with protein product				OR2T6P, OR2T9			Standard	NM_001005471		Approved	OST703	uc001iei.1	Q8NHC8	OTTHUMG00000040448	ENST00000355728.2:c.450C>T	1.37:g.248551359C>T							p.F150F	NM_001005471.1	NP_001005471.1	Q8NHC8	OR2T6_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	450	+	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		150					A6NE36	Silent	SNP	ENST00000355728.2	37	c.450C>T	CCDS31114.1																																																																																				0.557	OR2T6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097344.1	NM_001005471		7	79	0	0	0	0.248553	0	7	79					T	248551359	C	T	248551359	2	4	37	1	0	0	0	0	0	0	0	1	11029	883	31	2		2	OR2T6	1	248551359	Silent	SNP	C	TCGA-CH-5772-01A-11D-1576-08	114339	248551359	699262	9	1972											
MSGN1	343930	broad.mit.edu	37	chr2	17998361	17998361	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agagagcccagagcccagagCgcgtgagctccatccgggga	10	3	15	13	3	0	4	0	1	0	3	2	6	2	5	4	2	4	1	4	2	0	0			TCGA-CH-5772-01A-11D-1576-08	TCGA-CH-5772-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a94aed7-03d7-463d-bb87-bca2994f297d	87c4609d-4743-435b-8e1c-b5187a750224	g.chr2:17998361C>A	ENST00000281047.3	+	1	599	c.576C>A	c.(574-576)agC>agA	p.S192R		NM_001105569.1	NP_001099039.1	A6NI15	MSGN1_HUMAN	mesogenin 1	192					cell differentiation (GO:0030154)|segment specification (GO:0007379)|somitogenesis (GO:0001756)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)	p.S192R(1)		NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)	11	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					GAGCCCAGAGCGCGTGAGCTC	0.547																																					Melanoma(127;325 1712 14802 40657 49130)	ENST00000281047.3																			1	Substitution - Missense(1)	p.S192R(1)	prostate(1)	NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)	11						c.(574-576)agC>agA		mesogenin 1							27	29	29					2																	17998361		1995	4173	6168	SO:0001583	missense	343930				cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr2:17998361C>A		CCDS42657.1	2p24.2	2007-07-23			ENSG00000151379	ENSG00000151379			14907	protein-coding gene	gene with protein product	"paraxial mesogenin"	612209				10837126	Standard	NM_001105569		Approved	pMesogenin1	uc010yjt.2	A6NI15	OTTHUMG00000159089	ENST00000281047.3:c.576C>A	2.37:g.17998361C>A	ENSP00000281047:p.Ser192Arg						p.S192R	NM_001105569.1	NP_001099039.1	A6NI15	MSGN1_HUMAN			1	599	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)		192						Missense_Mutation	SNP	ENST00000281047.3	37	c.576C>A	CCDS42657.1	.	.	.	.	.	.	.	.	.	.	C	10.82	1.456960	0.26161	.	.	ENSG00000151379	ENST00000281047	T	0.72282	-0.64	5.46	-7.52	0.01341	.	0.098474	0.64402	D	0.000003	T	0.38214	0.1032	N	0.08118	0	0.20638	N	0.999873	B	0.09022	0.002	B	0.08055	0.003	T	0.09037	-1.0693	10	0.87932	D	0	-9.5216	4.7543	0.13075	0.086:0.2284:0.1694:0.5163	.	192	A6NI15	MSGN1_HUMAN	R	192	ENSP00000281047:S192R	ENSP00000281047:S192R	S	+	3	2	MSGN1	17861842	0.000000	0.05858	0.000000	0.03702	0.132000	0.20833	-2.903000	0.00703	-1.490000	0.01842	-0.727000	0.03589	AGC		0.547	MSGN1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353253.1	XM_292850		6	66	1	0	0.0215528	0.217242	0.0223225	6	66					A	17998361	C	A	17998361	3	1	37	1	0	0	0	0	1	0	0	0	9869	767	27	5	578	5	MSGN1	2	17998361	Missense_Mutation	SNP	C	TCGA-CH-5772-01A-11D-1576-08		17998361	225201012	10	1973											
C2orf71	388939	broad.mit.edu	37	chr2	29296170	29296170	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cctcagagccctcaggaggcGttcatccacattcctttttg	7	12	8	14	1	3	1	3	0	0	1	5	2	5	2	4	2	1	1	4	2	0	4	rs374283240		TCGA-CH-5772-01A-11D-1576-08	TCGA-CH-5772-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a94aed7-03d7-463d-bb87-bca2994f297d	87c4609d-4743-435b-8e1c-b5187a750224	g.chr2:29296170G>A	ENST00000331664.5	-	1	957	c.958C>T	c.(958-960)Cgc>Tgc	p.R320C		NM_001029883.2	NP_001025054.1	A6NGG8	CB071_HUMAN	chromosome 2 open reading frame 71	320			R -> C. {ECO:0000269|PubMed:21412943}.		response to stimulus (GO:0050896)|visual perception (GO:0007601)	primary cilium (GO:0072372)		p.R320C(1)		NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1)	60						CTCAGGAGGCGTTCATCCACA	0.597																																						ENST00000331664.5																			1	Substitution - Missense(1)	p.R320C(1)	prostate(1)	NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1)	60						c.(958-960)Cgc>Tgc		chromosome 2 open reading frame 71		G	CYS/ARG	1,4361		0,1,2180	72	79	76		958	-1.6	0	2		76	0,8566		0,0,4283	no	missense	C2orf71	NM_001029883.1	180	0,1,6463	AA,AG,GG		0.0,0.0229,0.0077	benign	320/1289	29296170	1,12927	2181	4283	6464	SO:0001583	missense	388939				response to stimulus|visual perception	photoreceptor outer segment		g.chr2:29296170G>A		CCDS42669.1	2p23.2	2014-01-28			ENSG00000179270	ENSG00000179270			34383	protein-coding gene	gene with protein product		613425				20398886	Standard	NM_001029883		Approved	FLJ34931, RP54	uc002rmt.2	A6NGG8	OTTHUMG00000152024	ENST00000331664.5:c.958C>T	2.37:g.29296170G>A	ENSP00000332809:p.Arg320Cys						p.R320C	NM_001029883.2	NP_001025054.1	A6NGG8	CB071_HUMAN			1	957	-			320		R -> C.				Missense_Mutation	SNP	ENST00000331664.5	37	c.958C>T	CCDS42669.1	.	.	.	.	.	.	.	.	.	.	G	4.830	0.154365	0.09236	2.29E-4	0.0	ENSG00000179270	ENST00000331664	T	0.20332	2.08	5.51	-1.64	0.08318	.	0.546755	0.19587	N	0.110712	T	0.08670	0.0215	N	0.03608	-0.345	0.09310	N	1	B	0.16396	0.017	B	0.14023	0.01	T	0.28618	-1.0038	10	0.56958	D	0.05	-0.155	11.4048	0.49892	0.4605:0.0:0.5395:0.0	.	320	A6NGG8	CB071_HUMAN	C	320	ENSP00000332809:R320C	ENSP00000332809:R320C	R	-	1	0	C2orf71	29149674	0.026000	0.19158	0.000000	0.03702	0.017000	0.09413	0.506000	0.22658	-0.177000	0.10690	-0.254000	0.11334	CGC		0.597	C2orf71-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000324924.3	NM_001029883		38	246	0	0	0	0.804634	0	38	246					A	29296170	G	A	29296170	3	1	37	1	0	0	0	0	1	0	0	0	2191	1145	40	1	2916	1	C2orf71	2	29296170	Missense_Mutation	SNP	G	TCGA-CH-5772-01A-11D-1576-08	11297809	29296170	213903203	11	1974											
ZNF638	27332	broad.mit.edu	37	chr2	71582900	71582900	+	Frame_Shift_Del	DEL	T	T	-																															atattgagagctgtcgacagTtacgtcaacagtaagaatat																										TCGA-CH-5772-01A-11D-1576-08	TCGA-CH-5772-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a94aed7-03d7-463d-bb87-bca2994f297d	87c4609d-4743-435b-8e1c-b5187a750224	g.chr2:71582900delT	ENST00000409544.1	+	3	1999	c.1369delT	c.(1369-1371)ttafs	p.L457fs	ZNF638_ENST00000377802.2_Frame_Shift_Del_p.L457fs|ZNF638_ENST00000355812.3_Frame_Shift_Del_p.L457fs|ZNF638_ENST00000264447.4_Frame_Shift_Del_p.L457fs|ZNF638_ENST00000410075.1_3'UTR	NM_001252612.1	NP_001239541.1	Q14966	ZN638_HUMAN	zinc finger protein 638	457					regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|lung(28)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	63						CTGTCGACAGTTACGTCAACA	0.289																																						ENST00000409544.1																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|lung(28)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	63						c.(1369-1371)tafs		zinc finger protein 638							50	45	47					2																	71582900		2199	4286	6485	SO:0001589	frameshift_variant	27332				RNA splicing	cytoplasm|nuclear speck	double-stranded DNA binding|nucleotide binding|RNA binding|zinc ion binding	g.chr2:71582900delT	D83032	CCDS1917.1	2p13.1	2013-02-12	2004-07-29	2004-07-30	ENSG00000075292	ENSG00000075292		"RNA binding motif (RRM) containing"	17894	protein-coding gene	gene with protein product		614349	"zinc finger, matrin-like"	ZFML		8647861	Standard	NM_014497		Approved	NP220, MGC26130, Zfp638	uc002shy.3	Q14966	OTTHUMG00000129735	ENST00000409544.1:c.1369delT	2.37:g.71582900delT	ENSP00000386433:p.Leu457fs					ZNF638_ENST00000355812.3_Frame_Shift_Del_p.L457fs|ZNF638_ENST00000377802.2_Frame_Shift_Del_p.L457fs|ZNF638_ENST00000410075.1_3'UTR|ZNF638_ENST00000264447.4_Frame_Shift_Del_p.L457fs	p.L457fs	NM_001252612.1	NP_001239541.1	Q14966	ZN638_HUMAN			3	1999	+			457					B5MDV1|B7ZLD1|Q53R34|Q5XJ05|Q68DP3|Q6P2H2|Q7Z3T7|Q8NF92|Q8TCA1|Q9H2G1|Q9NP37	Frame_Shift_Del	DEL	ENST00000409544.1	37	c.1369delT	CCDS1917.1																																																																																				0.289	ZNF638-002	NOVEL	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000327431.1	NM_014497		7	74						7	74	---	---	---	---	-	71582900	T	-	71582900	7	5	37	1	0	1	0	1	0	0	0	0	18052	1722	60	0	1375	0	ZNF638	2	71582900	Frame_Shift_Del	DEL	T	TCGA-CH-5772-01A-11D-1576-08	42286730	71582900	171616473	12	1975											
LRRTM1	347730	broad.mit.edu	37	chr2	80530234	80530234	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttgttcctccgcaggcagagCgagtgcagggagatgaggcg	8	7	17	9	3	0	3	0	1	0	2	2	5	2	3	2	3	2	4	2	3	0	2			TCGA-CH-5772-01A-11D-1576-08	TCGA-CH-5772-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a94aed7-03d7-463d-bb87-bca2994f297d	87c4609d-4743-435b-8e1c-b5187a750224	g.chr2:80530234C>A	ENST00000295057.3	-	2	1367	c.711G>T	c.(709-711)tcG>tcT	p.S237S	CTNNA2_ENST00000402739.4_Intron|LRRTM1_ENST00000409148.1_Silent_p.S237S|CTNNA2_ENST00000541047.1_Intron|CTNNA2_ENST00000361291.4_Intron|CTNNA2_ENST00000540488.1_Intron|CTNNA2_ENST00000496558.1_Intron|CTNNA2_ENST00000466387.1_Intron	NM_178839.4	NP_849161.2	Q86UE6	LRRT1_HUMAN	leucine rich repeat transmembrane neuronal 1	237					exploration behavior (GO:0035640)|locomotory behavior (GO:0007626)|long-term synaptic potentiation (GO:0060291)|negative regulation of receptor internalization (GO:0002091)|protein localization to synapse (GO:0035418)|synapse organization (GO:0050808)	axon (GO:0030424)|cell junction (GO:0030054)|endoplasmic reticulum (GO:0005783)|excitatory synapse (GO:0060076)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)		p.S237S(2)		NS(1)|breast(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(33)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	63						GCAGGCAGAGCGAGTGCAGGG	0.577										HNSCC(69;0.2)																												ENST00000295057.3																			2	Substitution - coding silent(2)	p.S237S(2)	prostate(2)	NS(1)|breast(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(33)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	63						c.(709-711)tcG>tcT		leucine rich repeat transmembrane neuronal 1							98	94	95					2																	80530234		2203	4300	6503	SO:0001819	synonymous_variant	347730					axon|endoplasmic reticulum membrane|growth cone|integral to membrane		g.chr2:80530234C>A	AY358310	CCDS1966.1	2p12	2004-06-22			ENSG00000162951	ENSG00000162951			19408	protein-coding gene	gene with protein product		610867				12676565	Standard	XR_244930		Approved	FLJ32082	uc002sok.1	Q86UE6	OTTHUMG00000130021	ENST00000295057.3:c.711G>T	2.37:g.80530234C>A		HNSCC(69;0.2)				CTNNA2_ENST00000466387.1_Intron|CTNNA2_ENST00000402739.4_Intron|LRRTM1_ENST00000409148.1_Silent_p.S237S|CTNNA2_ENST00000540488.1_Intron|CTNNA2_ENST00000361291.4_Intron|CTNNA2_ENST00000496558.1_Intron|CTNNA2_ENST00000541047.1_Intron	p.S237S	NM_178839.4	NP_849161.2	Q86UE6	LRRT1_HUMAN			2	1367	-			237					A8K397|D6W5K1|Q96DN1	Silent	SNP	ENST00000295057.3	37	c.711G>T	CCDS1966.1																																																																																				0.577	LRRTM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313614.1	NM_178839		4	158	1	0	0.00024832	0.150653	0.000269207	4	158					A	80530234	C	A	80530234	2	1	37	1	0	0	0	0	0	0	0	1	9039	755	27	5		5	LRRTM1	2	80530234	Silent	SNP	C	TCGA-CH-5772-01A-11D-1576-08	8947334	80530234	162669139	13	1976											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-CH-5772-01A-11D-1576-08	TCGA-CH-5772-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a94aed7-03d7-463d-bb87-bca2994f297d	87c4609d-4743-435b-8e1c-b5187a750224	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"isocitrate dehydrogenase 1 (NADP+), soluble"			O			gliobastoma		2835	Substitution - Missense(2834)|Complex - compound substitution(1)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)cGt>cAt		isocitrate dehydrogenase 1 (NADP+), soluble							79	73	75					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113112C>T		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His					IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	p.R132H			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	776	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.395G>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			7	143	0	0	0	0.27861	0	7	143					T	209113112	C	T	209113112	3	4	37	1	0	0	0	0	1	0	0	0	7494	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-CH-5772-01A-11D-1576-08	128582878	209113112	34086261	14	1977											
MYL1	4632	broad.mit.edu	37	chr2	211179711	211179711	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gtgcaggtgccggtgccgggGctggggcagccgcagccgca	4	4	20	13	4	0	0	0	0	0	0	0	0	0	0	4	6	5	5	4	6	0	0			TCGA-CH-5772-01A-11D-1576-08	TCGA-CH-5772-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a94aed7-03d7-463d-bb87-bca2994f297d	87c4609d-4743-435b-8e1c-b5187a750224	g.chr2:211179711G>A	ENST00000352451.3	-	1	203	c.56C>T	c.(55-57)gCc>gTc	p.A19V		NM_079420.2	NP_524144.1	P05976	MYL1_HUMAN	myosin, light chain 1, alkali; skeletal, fast	19					cardiac muscle contraction (GO:0060048)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)	cytosol (GO:0005829)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|sarcomere (GO:0030017)	calcium ion binding (GO:0005509)|structural constituent of muscle (GO:0008307)	p.A19V(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(1)	16				Epithelial(149;0.00573)|Lung(261;0.0422)|LUSC - Lung squamous cell carcinoma(261;0.0444)|all cancers(144;0.057)		cggtgccggggctggggcAGC	0.502																																						ENST00000352451.3																			1	Substitution - Missense(1)	p.A19V(1)	prostate(1)	breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(1)	16						c.(55-57)gCc>gTc		myosin, light chain 1, alkali; skeletal, fast							69	100	90					2																	211179711		2203	4300	6503	SO:0001583	missense	4632				muscle filament sliding|muscle organ development	cytosol|muscle myosin complex|sarcomere	calcium ion binding|structural constituent of muscle	g.chr2:211179711G>A		CCDS2390.1, CCDS2391.1	2q33-q34	2013-01-10	2006-09-29		ENSG00000168530	ENSG00000168530		"Myosins / Light chain", "EF-hand domain containing"	7582	protein-coding gene	gene with protein product		160780	"myosin, light polypeptide 1, alkali; skeletal, fast"			2304459, 3422212	Standard	NM_079422		Approved		uc002vec.3	P05976	OTTHUMG00000132992	ENST00000352451.3:c.56C>T	2.37:g.211179711G>A	ENSP00000307280:p.Ala19Val						p.A19V	NM_079420.2	NP_524144.1	P05976	MYL1_HUMAN		Epithelial(149;0.00573)|Lung(261;0.0422)|LUSC - Lung squamous cell carcinoma(261;0.0444)|all cancers(144;0.057)	1	203	-			19					B2R4N6|B2R4T6|P06741|Q6IBD5	Missense_Mutation	SNP	ENST00000352451.3	37	c.56C>T	CCDS2390.1	.	.	.	.	.	.	.	.	.	.	G	12.72	2.021538	0.35701	.	.	ENSG00000168530	ENST00000352451	D	0.86297	-2.1	5.44	5.44	0.79542	.	0.166280	0.38111	N	0.001817	D	0.92179	0.7520	L	0.60845	1.875	0.43381	D	0.995487	D	0.63880	0.993	D	0.68192	0.956	D	0.92313	0.5859	10	0.59425	D	0.04	.	18.8737	0.92327	0.0:0.0:1.0:0.0	.	19	P05976	MYL1_HUMAN	V	19	ENSP00000307280:A19V	ENSP00000307280:A19V	A	-	2	0	MYL1	210887956	1.000000	0.71417	0.965000	0.40720	0.002000	0.02628	6.698000	0.74608	2.556000	0.86216	0.655000	0.94253	GCC		0.502	MYL1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256566.2	NM_079420		8	91	0	0	0	0.38729	0	8	91					A	211179711	G	A	211179711	3	1	37	1	0	0	0	0	1	0	0	0	10043	1203	42	3	588	3	MYL1	2	211179711	Missense_Mutation	SNP	G	TCGA-CH-5772-01A-11D-1576-08	2066599	211179711	32019662	15	1978											
ABCA12	26154	broad.mit.edu	37	chr2	215890474	215890474	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aagaaaagattttttaaatcGtattgtggactgcaggagtc	14	13	10	4	1	0	2	0	0	0	2	2	4	0	4	0	2	1	2	0	2	6	5			TCGA-CH-5772-01A-11D-1576-08	TCGA-CH-5772-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a94aed7-03d7-463d-bb87-bca2994f297d	87c4609d-4743-435b-8e1c-b5187a750224	g.chr2:215890474G>A	ENST00000272895.7	-	11	1429	c.1210C>T	c.(1210-1212)Cga>Tga	p.R404*	AC072062.3_ENST00000602182.1_RNA|AC072062.3_ENST00000419251.1_RNA|AC072062.3_ENST00000437897.3_RNA|ABCA12_ENST00000389661.4_Nonsense_Mutation_p.R86*|AC072062.3_ENST00000595058.1_RNA	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	404					cellular homeostasis (GO:0019725)|ceramide transport (GO:0035627)|establishment of skin barrier (GO:0061436)|keratinization (GO:0031424)|lipid homeostasis (GO:0055088)|lipid transport (GO:0006869)|lung alveolus development (GO:0048286)|phospholipid efflux (GO:0033700)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of protein localization to cell surface (GO:2000010)|protein localization to plasma membrane (GO:0072659)|regulated secretory pathway (GO:0045055)|secretion by cell (GO:0032940)|surfactant homeostasis (GO:0043129)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|epidermal lamellar body (GO:0097209)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)	apolipoprotein A-I receptor binding (GO:0034191)|ATP binding (GO:0005524)|lipid transporter activity (GO:0005319)|lipid-transporting ATPase activity (GO:0034040)|receptor binding (GO:0005102)	p.R404*(1)		NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		TTTTTAAATCGTATTGTGGAC	0.348																																					Ovarian(66;664 1488 5121 34295)	ENST00000272895.7																			1	Substitution - Nonsense(1)	p.R404*(1)	prostate(1)	NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139						c.(1210-1212)Cga>Tga		ATP-binding cassette, sub-family A (ABC1), member 12							75	77	77					2																	215890474		2203	4300	6503	SO:0001587	stop_gained	26154				cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity	g.chr2:215890474G>A	AF418105	CCDS33372.1, CCDS33373.1	2q34	2012-03-14			ENSG00000144452	ENSG00000144452		"ATP binding cassette transporters / subfamily A"	14637	protein-coding gene	gene with protein product		607800	"ichthyosis congenita II, lamellar ichthyosis B"	ICR2B		11435397, 12915478, 8845852, 10094194	Standard	NM_015657		Approved	DKFZP434G232, LI2	uc002vew.3	Q86UK0	OTTHUMG00000154801	ENST00000272895.7:c.1210C>T	2.37:g.215890474G>A	ENSP00000272895:p.Arg404*					AC072062.3_ENST00000437897.3_RNA|ABCA12_ENST00000389661.4_Nonsense_Mutation_p.R86*	p.R404*	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)	11	1429	-		Renal(323;0.127)	404					Q53QE2|Q53S55|Q8IZW6|Q96JT3|Q9Y4M5	Nonsense_Mutation	SNP	ENST00000272895.7	37	c.1210C>T	CCDS33372.1	.	.	.	.	.	.	.	.	.	.	G	34	5.361674	0.95877	.	.	ENSG00000144452	ENST00000272895;ENST00000389661	.	.	.	5.96	3.2	0.36748	.	0.931591	0.09010	N	0.861665	.	.	.	.	.	.	0.20489	N	0.999893	.	.	.	.	.	.	.	.	.	.	0.09590	T	0.72	.	7.2221	0.25994	0.078:0.0:0.6203:0.3018	.	.	.	.	X	404;86	.	ENSP00000272895:R404X	R	-	1	2	ABCA12	215598719	0.987000	0.35691	0.098000	0.21074	0.752000	0.42762	2.312000	0.43726	0.409000	0.25649	-0.169000	0.13324	CGA		0.348	ABCA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337111.1	NM_173076		14	131	0	0	0	0.435327	0	14	131					A	215890474	G	A	215890474	4	1	37	1	0	0	0	0	0	1	0	0	30	1153	40	1	6749	1	ABCA12	2	215890474	Nonsense_Mutation	SNP	G	TCGA-CH-5772-01A-11D-1576-08	4710763	215890474	27308899	16	1979											
ARPP21	10777	broad.mit.edu	37	chr3	35785388	35785388	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcaaccacgcaacagtacCggcccatggccccggttcag	9	5	9	18	3	2	0	2	0	0	0	2	0	2	0	6	3	3	3	6	3	3	2	rs375827523		TCGA-CH-5772-01A-11D-1576-08	TCGA-CH-5772-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a94aed7-03d7-463d-bb87-bca2994f297d	87c4609d-4743-435b-8e1c-b5187a750224	g.chr3:35785388C>T	ENST00000187397.4	+	18	2419	c.1963C>T	c.(1963-1965)Cgg>Tgg	p.R655W	ARPP21_ENST00000337271.5_Missense_Mutation_p.R636W|ARPP21_ENST00000458225.1_Missense_Mutation_p.R656W|MIR128-2_ENST00000384893.1_RNA|ARPP21_ENST00000444190.1_Missense_Mutation_p.R636W|ARPP21_ENST00000417925.1_Missense_Mutation_p.R656W	NM_016300.4	NP_057384.2	Q9UBL0	ARP21_HUMAN	cAMP-regulated phosphoprotein, 21kDa	655	Gln-rich.				cellular response to heat (GO:0034605)	cytoplasm (GO:0005737)	nucleic acid binding (GO:0003676)	p.R655W(1)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	61						GCAACAGTACCGGCCCATGGC	0.493																																						ENST00000187397.4																			1	Substitution - Missense(1)	p.R655W(1)	prostate(1)	cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	61						c.(1963-1965)Cgg>Tgg		cAMP-regulated phosphoprotein, 21kDa		C	TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	122	116	118		1963	4.9	1	3		118	0,8600		0,0,4300	no	missense	ARPP21	NM_016300.4	101	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	655/813	35785388	1,13005	2203	4300	6503	SO:0001583	missense	10777					cytoplasm	nucleic acid binding	g.chr3:35785388C>T	AA733082	CCDS2661.1, CCDS43063.1, CCDS58823.1, CCDS58824.1	3p24.3	2010-08-12			ENSG00000172995	ENSG00000172995			16968	protein-coding gene	gene with protein product	"R3H domain containing 3"	605488				8120638	Standard	NM_198399		Approved	ARPP-21, TARPP, R3HDM3	uc011axy.2	Q9UBL0	OTTHUMG00000130795	ENST00000187397.4:c.1963C>T	3.37:g.35785388C>T	ENSP00000187397:p.Arg655Trp					ARPP21_ENST00000444190.1_Missense_Mutation_p.R636W|ARPP21_ENST00000337271.5_Missense_Mutation_p.R636W|ARPP21_ENST00000417925.1_Missense_Mutation_p.R656W|ARPP21_ENST00000458225.1_Missense_Mutation_p.R656W	p.R655W	NM_016300.4	NP_057384.2	Q9UBL0	ARP21_HUMAN			18	2419	+			655			Gln-rich.		B4DG96|Q49AK3|Q49AS6|Q4G0V4|Q6NYC3|Q86V31|Q9UF93	Missense_Mutation	SNP	ENST00000187397.4	37	c.1963C>T	CCDS2661.1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.344605	0.82022	2.27E-4	0.0	ENSG00000172995	ENST00000458225;ENST00000337271;ENST00000444190;ENST00000187397;ENST00000417925	T;T;T;T;T	0.54866	0.55;0.55;0.55;0.55;0.55	5.82	4.9	0.64082	.	0.000000	0.64402	D	0.000013	T	0.71039	0.3293	M	0.78637	2.42	0.41741	D	0.989616	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.997;0.999	T	0.74340	-0.3697	10	0.87932	D	0	-27.7839	11.8217	0.52242	0.269:0.731:0.0:0.0	.	656;178;655;636	Q9UBL0-3;Q9UBL0-5;Q9UBL0;Q9UBL0-4	.;.;ARP21_HUMAN;.	W	656;636;636;655;656	ENSP00000414351:R656W;ENSP00000337792:R636W;ENSP00000405276:R636W;ENSP00000187397:R655W;ENSP00000412326:R656W	ENSP00000187397:R655W	R	+	1	2	ARPP21	35760392	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	2.218000	0.42889	2.740000	0.93945	0.655000	0.94253	CGG		0.493	ARPP21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253334.2	NM_198399		5	193	0	0	0	0.184627	0	5	193					T	35785388	C	T	35785388	3	4	37	1	0	0	0	0	1	0	0	0	978	643	23	2	2038	2	ARPP21	3	35785388	Missense_Mutation	SNP	C	TCGA-CH-5772-01A-11D-1576-08		35785388	162237042	17	1980											
HTT	3064	broad.mit.edu	37	chr4	3148562	3148562	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctcagatgagtctaggaagaGctgtaccgttgggatggcca	10	9	14	8	1	2	3	1	1	1	2	2	5	2	5	2	3	2	3	2	3	3	3			TCGA-CH-5772-01A-11D-1576-08	TCGA-CH-5772-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a94aed7-03d7-463d-bb87-bca2994f297d	87c4609d-4743-435b-8e1c-b5187a750224	g.chr4:3148562G>A	ENST00000355072.5	+	25	3327	c.3182G>A	c.(3181-3183)aGc>aAc	p.S1061N		NM_002111.6	NP_002102	P42858	HD_HUMAN	huntingtin	1061					anterior/posterior pattern specification (GO:0009952)|axon cargo transport (GO:0008088)|cell aging (GO:0007569)|citrulline metabolic process (GO:0000052)|determination of adult lifespan (GO:0008340)|dopamine receptor signaling pathway (GO:0007212)|endoplasmic reticulum organization (GO:0007029)|endosomal transport (GO:0016197)|ER to Golgi vesicle-mediated transport (GO:0006888)|establishment of mitotic spindle orientation (GO:0000132)|Golgi organization (GO:0007030)|grooming behavior (GO:0007625)|hormone metabolic process (GO:0042445)|insulin secretion (GO:0030073)|iron ion homeostasis (GO:0055072)|L-glutamate import (GO:0051938)|lactate biosynthetic process from pyruvate (GO:0019244)|locomotory behavior (GO:0007626)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of neuron apoptotic process (GO:0043524)|neural plate formation (GO:0021990)|neuron apoptotic process (GO:0051402)|neuron development (GO:0048666)|olfactory lobe development (GO:0021988)|organ development (GO:0048513)|paraxial mesoderm formation (GO:0048341)|positive regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031587)|protein import into nucleus (GO:0006606)|quinolinate biosynthetic process (GO:0019805)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of protein phosphatase type 2A activity (GO:0034047)|regulation of synaptic plasticity (GO:0048167)|response to calcium ion (GO:0051592)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|social behavior (GO:0035176)|spermatogenesis (GO:0007283)|striatum development (GO:0021756)|urea cycle (GO:0000050)|vesicle transport along microtubule (GO:0047496)|visual learning (GO:0008542)	autophagic vacuole (GO:0005776)|axon (GO:0030424)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|inclusion body (GO:0016234)|late endosome (GO:0005770)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein complex (GO:0043234)	beta-tubulin binding (GO:0048487)|diazepam binding (GO:0050809)|dynactin binding (GO:0034452)|dynein intermediate chain binding (GO:0045505)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|p53 binding (GO:0002039)|transcription factor binding (GO:0008134)	p.S1061N(1)		breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		TCTAGGAAGAGCTGTACCGTT	0.468																																						ENST00000355072.5																			1	Substitution - Missense(1)	p.S1061N(1)	prostate(1)	breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87						c.(3181-3183)aGc>aAc		huntingtin							295	295	295					4																	3148562		1983	4162	6145	SO:0001583	missense	3064				establishment of mitotic spindle orientation|Golgi organization|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule	autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|Golgi apparatus|late endosome|membrane fraction|nucleus|protein complex	beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding	g.chr4:3148562G>A	L12392	CCDS43206.1	4p16.3	2014-09-17	2007-12-04	2007-12-04	ENSG00000197386	ENSG00000197386		"Endogenous ligands"	4851	protein-coding gene	gene with protein product		613004	"huntingtin (Huntington disease)"	HD		8458085	Standard	NM_002111		Approved	IT15	uc021xkv.1	P42858	OTTHUMG00000159916	ENST00000355072.5:c.3182G>A	4.37:g.3148562G>A	ENSP00000347184:p.Ser1061Asn						p.S1061N	NM_002111.6	NP_002102.4	P42858	HD_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)	25	3327	+		all_epithelial(65;0.18)	1061					Q9UQB7	Missense_Mutation	SNP	ENST00000355072.5	37	c.3182G>A	CCDS43206.1	.	.	.	.	.	.	.	.	.	.	G	11.14	1.551627	0.27739	.	.	ENSG00000197386	ENST00000355072	T	0.05382	3.45	4.68	4.68	0.58851	Armadillo-type fold (1);	0.184833	0.56097	D	0.000026	T	0.07324	0.0185	L	0.47716	1.5	0.33280	D	0.562169	B	0.14012	0.009	B	0.09377	0.004	T	0.04307	-1.0961	10	0.33141	T	0.24	.	12.2556	0.54621	0.0821:0.0:0.9179:0.0	.	1061	P42858	HD_HUMAN	N	1061	ENSP00000347184:S1061N	ENSP00000347184:S1061N	S	+	2	0	HTT	3118360	1.000000	0.71417	1.000000	0.80357	0.382000	0.30200	3.785000	0.55424	2.444000	0.82710	0.563000	0.77884	AGC		0.468	HTT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358234.2	NM_002111		14	637	0	0	0	0.435327	0	14	637					A	3148562	G	A	3148562	3	1	37	1	0	0	0	0	1	0	0	0	7457	971	34	3	3280	3	HTT	4	3148562	Missense_Mutation	SNP	G	TCGA-CH-5772-01A-11D-1576-08		3148562	188005714	18	1981											
KLHL5	51088	broad.mit.edu	37	chr4	39064620	39064620	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagtggatgatggcactagTgaagaagaaaatgaatctga	17	8	13	3	0	1	6	0	4	1	2	1	8	1	7	0	2	0	1	0	2	7	1			TCGA-CH-5772-01A-11D-1576-08	TCGA-CH-5772-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a94aed7-03d7-463d-bb87-bca2994f297d	87c4609d-4743-435b-8e1c-b5187a750224	g.chr4:39064620T>G	ENST00000504108.1	+	1	769	c.486T>G	c.(484-486)agT>agG	p.S162R	KLHL5_ENST00000508137.2_Intron|KLHL5_ENST00000381930.3_Missense_Mutation_p.S162R|KLHL5_ENST00000261425.3_Missense_Mutation_p.S116R|KLHL5_ENST00000359687.2_Missense_Mutation_p.S162R|KLHL5_ENST00000261426.5_Missense_Mutation_p.S162R	NM_015990.4	NP_057074.3	Q96PQ7	KLHL5_HUMAN	kelch-like family member 5	162						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)		p.S162R(1)		endometrium(3)|kidney(1)|large_intestine(11)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	29						ATGGCACTAGTGAAGAAGAAA	0.418																																						ENST00000261425.3																			1	Substitution - Missense(1)	p.S162R(1)	prostate(1)	endometrium(3)|kidney(1)|large_intestine(11)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	29						c.(346-348)agT>agG		kelch-like family member 5							80	85	83					4																	39064620		2203	4300	6503	SO:0001583	missense	51088					cytoplasm|cytoskeleton	actin binding	g.chr4:39064620T>G	AF272976	CCDS3449.1, CCDS33974.1, CCDS33975.1, CCDS54756.1	4p15.1	2013-01-30	2013-01-30		ENSG00000109790	ENSG00000109790		"Kelch-like", "BTB/POZ domain containing"	6356	protein-coding gene	gene with protein product		608064	"kelch (Drosophila)-like 5", "kelch-like 5 (Drosophila)"			11590829, 14672410	Standard	NM_001007075		Approved		uc003gtp.3	Q96PQ7	OTTHUMG00000097819	ENST00000504108.1:c.486T>G	4.37:g.39064620T>G	ENSP00000423897:p.Ser162Arg					KLHL5_ENST00000359687.2_Missense_Mutation_p.S162R|KLHL5_ENST00000508137.2_Intron|KLHL5_ENST00000381930.3_Missense_Mutation_p.S162R|KLHL5_ENST00000261426.5_Missense_Mutation_p.S162R|KLHL5_ENST00000504108.1_Missense_Mutation_p.S162R	p.S116R	NM_001007075.2	NP_001007076.1	Q96PQ7	KLHL5_HUMAN			2	500	+			162					A8K170|B7WP68|E9PCF4|F8WAE7|G3XA92|Q6Y881|Q86XW0|Q9NUK3|Q9NV27|Q9NVA9|Q9Y2X2	Missense_Mutation	SNP	ENST00000504108.1	37	c.348T>G	CCDS33974.1	.	.	.	.	.	.	.	.	.	.	T	8.777	0.927320	0.18056	.	.	ENSG00000109790	ENST00000544221;ENST00000261425;ENST00000504108;ENST00000359687;ENST00000381930;ENST00000261426	T;T;T;T;T	0.72167	-0.45;-0.46;-0.37;-0.39;-0.63	5.54	1.75	0.24633	.	0.178292	0.48286	D	0.000185	T	0.48943	0.1528	N	0.14661	0.345	0.34135	D	0.665661	B;B;B	0.33238	0.403;0.068;0.085	B;B;B	0.35770	0.21;0.016;0.037	T	0.50566	-0.8813	10	0.16420	T	0.52	.	8.6544	0.34055	0.0:0.28:0.0:0.72	.	162;162;162	F8WAE7;Q96PQ7;Q96PQ7-2	.;KLHL5_HUMAN;.	R	196;116;162;162;162;162	ENSP00000261425:S116R;ENSP00000423897:S162R;ENSP00000352716:S162R;ENSP00000371355:S162R;ENSP00000261426:S162R	ENSP00000261425:S116R	S	+	3	2	KLHL5	38741015	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.211000	0.32382	0.140000	0.18849	0.533000	0.62120	AGT		0.418	KLHL5-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000360604.1			6	168	0	0	0	0.217242	0	6	168					G	39064620	T	G	39064620	3	3	37	1	0	0	0	0	1	0	0	0	8392	1693	59	5	488	5	KLHL5	4	39064620	Missense_Mutation	SNP	T	TCGA-CH-5772-01A-11D-1576-08	35916058	39064620	152089656	19	1982											
GABRG1	2565	broad.mit.edu	37	chr4	46099328	46099328	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agacccaggttttgttcaccGttaaatcctcatcatcttca	10	14	5	12	1	5	1	4	0	1	1	6	1	6	1	3	1	0	3	3	1	2	5	rs201862437	byFrequency	TCGA-CH-5772-01A-11D-1576-08	TCGA-CH-5772-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a94aed7-03d7-463d-bb87-bca2994f297d	87c4609d-4743-435b-8e1c-b5187a750224	g.chr4:46099328G>A	ENST00000295452.4	-	2	310	c.143C>T	c.(142-144)aCg>aTg	p.T48M		NM_173536.3	NP_775807.2	Q8N1C3	GBRG1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 1	48					gamma-aminobutyric acid signaling pathway (GO:0007214)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)	p.T48M(4)		breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	76				Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	TTTGTTCACCGTTAAATCCTC	0.343													G|||	2	0.000399361	0	0	5008	,	,		16156	0.002		0	False		,,,				2504	0					ENST00000295452.4																			4	Substitution - Missense(4)	p.T48M(4)	central_nervous_system(3)|prostate(1)	breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	76						c.(142-144)aCg>aTg		gamma-aminobutyric acid (GABA) A receptor, gamma 1							184	186	185					4																	46099328		2203	4300	6503	SO:0001583	missense	2565				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity	g.chr4:46099328G>A	BC031087	CCDS3470.1	4p12	2012-06-22			ENSG00000163285	ENSG00000163285		"GABA receptors", "Ligand-gated ion channels / GABA(A) receptors"	4086	protein-coding gene	gene with protein product	"GABA(A) receptor, gamma"	137166				1321425	Standard	NM_173536		Approved		uc003gxb.3	Q8N1C3	OTTHUMG00000128609	ENST00000295452.4:c.143C>T	4.37:g.46099328G>A	ENSP00000295452:p.Thr48Met						p.T48M	NM_173536.3	NP_775807.2	Q8N1C3	GBRG1_HUMAN		Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23)	2	310	-			48					Q5H9T8	Missense_Mutation	SNP	ENST00000295452.4	37	c.143C>T	CCDS3470.1	2	9.157509157509158E-4	0	0.0	0	0.0	2	0.0034965034965034965	0	0.0	G	16.60	3.168790	0.57584	.	.	ENSG00000163285	ENST00000295452;ENST00000540030	T	0.67698	-0.28	4.96	4.96	0.65561	.	1.198030	0.05735	N	0.600243	T	0.75162	0.3812	L	0.53249	1.67	0.37172	D	0.903073	D	0.61697	0.99	P	0.50490	0.642	T	0.71397	-0.4605	10	0.62326	D	0.03	.	17.3741	0.87386	0.0:0.0:1.0:0.0	.	48	Q8N1C3	GBRG1_HUMAN	M	48	ENSP00000295452:T48M	ENSP00000295452:T48M	T	-	2	0	GABRG1	45794085	1.000000	0.71417	0.998000	0.56505	0.325000	0.28411	2.979000	0.49313	2.567000	0.86603	0.655000	0.94253	ACG		0.343	GABRG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250470.1	NM_173536		14	291	0	0	0	0.457914	0	14	291					A	46099328	G	A	46099328	3	1	37	1	0	0	0	0	1	0	0	0	6171	1145	40	1	1286	1	GABRG1	4	46099328	Missense_Mutation	SNP	G	TCGA-CH-5772-01A-11D-1576-08	7034708	46099328	145054948	20	1983											
UGT2B10	7365	broad.mit.edu	37	chr4	69693267	69693267	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acagtaattaatgatccttcGtgagtagaacaatatttttc	14	15	6	6	1	0	3	0	2	0	1	3	3	1	3	1	0	1	2	1	0	6	7	rs201190671		TCGA-CH-5772-01A-11D-1576-08	TCGA-CH-5772-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a94aed7-03d7-463d-bb87-bca2994f297d	87c4609d-4743-435b-8e1c-b5187a750224	g.chr4:69693267G>A	ENST00000265403.7	+	5	1334		c.e5+1		UGT2B10_ENST00000458688.2_Splice_Site	NM_001075.4	NP_001066.1	P36537	UDB10_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B10						lipid metabolic process (GO:0006629)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)	p.?(4)		endometrium(3)|kidney(4)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	29						ATGATCCTTCGTGAGTAGAAC	0.383													g|||	1	0.000199681	8e-04	0	5008	,	,		16089	0		0	False		,,,				2504	0				Melanoma(133;755 1763 25578 26334 46021)	ENST00000265403.7																			4	Unknown(4)	p.?(4)	ovary(2)|prostate(2)	endometrium(3)|kidney(4)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	29						c.e5+1		UDP glucuronosyltransferase 2 family, polypeptide B10							126	136	132					4																	69693267		1511	2708	4219	SO:0001630	splice_region_variant	7365				lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	g.chr4:69693267G>A	X63359	CCDS75135.1, CCDS75136.1	4q13.3	2008-02-05	2005-07-20			ENSG00000109181		"UDP glucuronosyltransferases"	12544	protein-coding gene	gene with protein product		600070	"UDP glycosyltransferase 2 family, polypeptide B10"			8333863	Standard	NM_001075		Approved		uc003hee.3	P36537		ENST00000265403.7:c.1307+1G>A	4.37:g.69693267G>A						UGT2B10_ENST00000458688.2_Splice_Site		NM_001075.4	NP_001066.1	P36537	UDB10_HUMAN			5	1334	+								A8K9M3|B4DPP1|Q14CR8	Splice_Site	SNP	ENST00000265403.7	37			.	.	.	.	.	.	.	.	.	.	g	11.67	1.706753	0.30232	.	.	ENSG00000109181	ENST00000265403;ENST00000458688	.	.	.	2.25	2.25	0.28309	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.874	0.41191	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	UGT2B10	69727856	1.000000	0.71417	0.355000	0.25773	0.034000	0.12701	3.794000	0.55492	1.089000	0.41292	0.184000	0.17185	.		0.383	UGT2B10-001	KNOWN	non_canonical_polymorphism|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000365169.1	NM_001075	Intron	12	210	0	0	0	0.435327	0	12	210					A	69693267	G	A	69693267	5	1	37	1	0	0	0	0	0	0	1	0	16953	1159	40	1	1326	1	UGT2B10	4	69693267	Splice_Site	SNP	G	TCGA-CH-5772-01A-11D-1576-08	23593939	69693267	121461009	21	1984											
LYSMD3	116068	broad.mit.edu	37	chr5	89815106	89815106	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agctgagtcactgtaagcaaGagaatcattagctggcaaaa	16	8	10	7	0	2	2	2	1	0	1	2	3	2	2	0	1	3	5	0	1	6	2	rs372204142		TCGA-CH-5772-01A-11D-1576-08	TCGA-CH-5772-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a94aed7-03d7-463d-bb87-bca2994f297d	87c4609d-4743-435b-8e1c-b5187a750224	g.chr5:89815106G>C	ENST00000315948.6	-	3	595	c.451C>G	c.(451-453)Ctt>Gtt	p.L151V	LYSMD3_ENST00000500869.2_Intron|LYSMD3_ENST00000509384.1_3'UTR	NM_198273.1	NP_938014.1	Q7Z3D4	LYSM3_HUMAN	LysM, putative peptidoglycan-binding, domain containing 3	151						integral component of membrane (GO:0016021)		p.L151V(1)		breast(2)|large_intestine(1)|lung(2)|prostate(1)|urinary_tract(1)	7		all_cancers(142;5.03e-09)|all_epithelial(76;1.23e-11)|Lung NSC(167;2.46e-05)|all_lung(232;3.25e-05)|Ovarian(174;0.00832)|Colorectal(57;0.122)|Breast(839;0.198)		OV - Ovarian serous cystadenocarcinoma(54;1.94e-31)|Epithelial(54;5.22e-26)|all cancers(79;2.42e-22)		CTGTAAGCAAGAGAATCATTA	0.393																																						ENST00000315948.6																			1	Substitution - Missense(1)	p.L151V(1)	prostate(1)	breast(2)|large_intestine(1)|lung(2)|prostate(1)|urinary_tract(1)	7						c.(451-453)Ctt>Gtt		LysM, putative peptidoglycan-binding, domain containing 3							139	131	134					5																	89815106		1845	4093	5938	SO:0001583	missense	116068				cell wall macromolecule catabolic process	integral to membrane		g.chr5:89815106G>C	BX537972	CCDS43338.1, CCDS68911.1	5q14.3	2010-12-09			ENSG00000176018	ENSG00000176018			26969	protein-coding gene	gene with protein product							Standard	NM_001286812		Approved	FLJ13542	uc003kjr.3	Q7Z3D4	OTTHUMG00000162667	ENST00000315948.6:c.451C>G	5.37:g.89815106G>C	ENSP00000314518:p.Leu151Val					LYSMD3_ENST00000500869.2_Intron|LYSMD3_ENST00000509384.1_3'UTR	p.L151V	NM_198273.1	NP_938014.1	Q7Z3D4	LYSM3_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;1.94e-31)|Epithelial(54;5.22e-26)|all cancers(79;2.42e-22)	3	595	-		all_cancers(142;5.03e-09)|all_epithelial(76;1.23e-11)|Lung NSC(167;2.46e-05)|all_lung(232;3.25e-05)|Ovarian(174;0.00832)|Colorectal(57;0.122)|Breast(839;0.198)	151					Q5H9U0|Q6PEK0|Q9NTE9	Missense_Mutation	SNP	ENST00000315948.6	37	c.451C>G	CCDS43338.1	.	.	.	.	.	.	.	.	.	.	G	3.846	-0.032851	0.07543	.	.	ENSG00000176018;ENSG00000259141	ENST00000315948;ENST00000554351	T	0.16743	2.32	5.73	0.835	0.18886	.	0.758571	0.12364	N	0.475399	T	0.09468	0.0233	L	0.36672	1.1	0.09310	N	1	B	0.29716	0.255	B	0.21917	0.037	T	0.31081	-0.9956	10	0.27785	T	0.31	-2.034	1.0044	0.01484	0.3312:0.1479:0.3685:0.1524	.	151	Q7Z3D4	LYSM3_HUMAN	V	151	ENSP00000314518:L151V	ENSP00000314518:L151V	L	-	1	0	AC027323.1;LYSMD3	89850862	0.981000	0.34729	0.155000	0.22561	0.884000	0.51177	1.045000	0.30341	0.062000	0.16340	-0.218000	0.12543	CTT		0.393	LYSMD3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369987.2	XM_371760		4	197	0	0	0	0.150653	0	4	197					C	89815106	G	C	89815106	3	2	37	1	0	0	0	0	1	0	0	0	9126	942	33	5	473	5	LYSMD3	5	89815106	Missense_Mutation	SNP	G	TCGA-CH-5772-01A-11D-1576-08		89815106	91100154	22	1985											
ZCCHC10	54819	broad.mit.edu	37	chr5	132334285	132334287	+	In_Frame_Del	DEL	TTC	TTC	-																															tggagcaactctatttctttTtcttcttctttggtggttca																								rs569444262		TCGA-CH-5772-01A-11D-1576-08	TCGA-CH-5772-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a94aed7-03d7-463d-bb87-bca2994f297d	87c4609d-4743-435b-8e1c-b5187a750224	g.chr5:132334285_132334287delTTC	ENST00000509437.1	-	5	574_576	c.567_569delGAA	c.(565-570)aagaaa>aaa	p.189_190KK>K	ZCCHC10_ENST00000324170.3_In_Frame_Del_p.167_168KK>K|ZCCHC10_ENST00000509008.1_3'UTR|ZCCHC10_ENST00000513541.1_3'UTR|ZCCHC10_ENST00000508080.1_5'UTR|ZCCHC10_ENST00000355372.2_In_Frame_Del_p.183_184KK>K|ZCCHC10_ENST00000513848.1_In_Frame_Del_p.153_154KK>K			Q8TBK6	ZCH10_HUMAN	zinc finger, CCHC domain containing 10	189	Poly-Lys.						nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			skin(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CTATTTCTTTTTCTTCTTCTTTG	0.419																																						ENST00000324170.3																			0				skin(1)	1						c.(499-504)aaa>aa		zinc finger, CCHC domain containing 10																																				SO:0001651	inframe_deletion	54819						nucleic acid binding|zinc ion binding	g.chr5:132334285_132334287delTTC	BC005211	CCDS4165.1, CCDS75300.1, CCDS75301.1, CCDS75302.1	5q31.1	2008-05-02			ENSG00000155329	ENSG00000155329		"Zinc fingers, CCHC domain containing"	25954	protein-coding gene	gene with protein product						12477932	Standard	XM_005272024		Approved	FLJ20094	uc003kyg.3	Q8TBK6	OTTHUMG00000129013	ENST00000509437.1:c.567_569delGAA	5.37:g.132334291_132334293delTTC	ENSP00000423276:p.Lys192del					ZCCHC10_ENST00000513541.1_3'UTR|ZCCHC10_ENST00000513848.1_In_Frame_Del_p.KK155del|ZCCHC10_ENST00000508080.1_5'UTR|ZCCHC10_ENST00000509437.1_In_Frame_Del_p.KK191del|ZCCHC10_ENST00000509008.1_3'UTR|ZCCHC10_ENST00000355372.2_In_Frame_Del_p.KK185del	p.KK169del	NM_017665.1	NP_060135.1	Q8TBK6	ZCH10_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		4	567_569	-			191			Ser-rich.		Q9NXR4	In_Frame_Del	DEL	ENST00000509437.1	37	c.501_503delGAA																																																																																					0.419	ZCCHC10-004	NOVEL	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000370163.1	NM_017665		7	109						7	109	---	---	---	---	-	132334287	TTC	-	132334285	7	5	37	1	0	1	0	1	0	0	0	0	17576	1841	64	0	13	0	ZCCHC10	5	132334285	In_Frame_Del	DEL	TTC	TCGA-CH-5772-01A-11D-1576-08	42519179	132334285	48580975	23	1986											
PCDHA10	56139	broad.mit.edu	37	chr5	140237082	140237082	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tctgcgtgggacgcggacgcGcaggagaacgccctggtgtc	6	6	17	12	6	1	1	0	0	1	1	2	4	1	3	1	4	2	1	1	4	1	0			TCGA-CH-5772-01A-11D-1576-08	TCGA-CH-5772-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a94aed7-03d7-463d-bb87-bca2994f297d	87c4609d-4743-435b-8e1c-b5187a750224	g.chr5:140237082G>A	ENST00000307360.5	+	1	1449	c.1449G>A	c.(1447-1449)gcG>gcA	p.A483A	PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA10_ENST00000506939.2_Silent_p.A483A|PCDHA4_ENST00000512229.2_Intron	NM_018901.2	NP_061724.1	Q9Y5I2	PCDAA_HUMAN	protocadherin alpha 10	483	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.A483A(2)		NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	79			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACGCGGACGCGCAGGAGAACG	0.662																																						ENST00000307360.5																			2	Substitution - coding silent(2)	p.A483A(2)	prostate(2)	NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	79						c.(1447-1449)gcG>gcA									83	82	82					5																	140237082		2196	4273	6469	SO:0001819	synonymous_variant	0							g.chr5:140237082G>A	AF152475	CCDS34255.1, CCDS54921.1, CCDS75325.1	5q31	2010-11-26			ENSG00000250120	ENSG00000250120		"Cadherins / Protocadherins : Clustered"	8664	other	complex locus constituent	"KIAA0345-like 4", "ortholog to mouse CNR8"	606316		CNRS8		10380929	Standard	NM_018901		Approved	CNR8, CRNR8, CNRN8, PCDH-ALPHA10		Q9Y5I2	OTTHUMG00000163372	ENST00000307360.5:c.1449G>A	5.37:g.140237082G>A						PCDHA10_ENST00000506939.2_Silent_p.A483A|PCDHA1_ENST00000504120.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron	p.A483A	NM_018901.2|NM_031859.1	NP_061724.1|NP_114065.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1449	+								A1L493|O75280|Q9NRU2	Silent	SNP	ENST00000307360.5	37	c.1449G>A	CCDS54921.1																																																																																				0.662	PCDHA10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372895.2	NM_018901		6	210	0	0	0	0.248553	0	6	210					A	140237082	G	A	140237082	2	1	37	1	0	0	0	0	0	0	0	1	11520	1074	38	1		1	PCDHA10	5	140237082	Silent	SNP	G	TCGA-CH-5772-01A-11D-1576-08	7902797	140237082	40678178	24	1987											
PCDHGA2	56113	broad.mit.edu	37	chr5	140720422	140720422	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cacacgggcgaggtgcgcacGgcgcgagccctgctggacag	7	3	17	14	6	0	0	0	0	0	0	0	3	0	1	1	4	3	2	1	4	0	0			TCGA-CH-5772-01A-11D-1576-08	TCGA-CH-5772-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a94aed7-03d7-463d-bb87-bca2994f297d	87c4609d-4743-435b-8e1c-b5187a750224	g.chr5:140720422G>A	ENST00000394576.2	+	1	1884	c.1884G>A	c.(1882-1884)acG>acA	p.T628T	PCDHGA1_ENST00000517417.1_Intron	NM_018915.2	NP_061738.1	Q9Y5H1	PCDG2_HUMAN	protocadherin gamma subfamily A, 2	628	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.T628T(2)		breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGGTGCGCACGGCGCGAGCCC	0.682																																						ENST00000394576.2																			2	Substitution - coding silent(2)	p.T628T(2)	prostate(2)	breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77						c.(1882-1884)acG>acA									35	42	40					5																	140720422		2198	4289	6487	SO:0001819	synonymous_variant	0							g.chr5:140720422G>A	AF152508	CCDS47289.1	5q31	2011-03-28			ENSG00000081853	ENSG00000081853		"Cadherins / Protocadherins : Clustered"	8700	other	protocadherin		606289				10380929	Standard	NM_018915		Approved	PCDH-GAMMA-A2		Q9Y5H1	OTTHUMG00000163679	ENST00000394576.2:c.1884G>A	5.37:g.140720422G>A						PCDHGA1_ENST00000517417.1_Intron	p.T628T	NM_018915.2	NP_061738.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1884	+								Q52LL6|Q9Y5D5	Silent	SNP	ENST00000394576.2	37	c.1884G>A	CCDS47289.1																																																																																				0.682	PCDHGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374738.1	NM_018915		14	154	0	0	0	0.500413	0	14	154					A	140720422	G	A	140720422	2	1	37	1	0	0	0	0	0	0	0	1	11554	1103	39	2		2	PCDHGA2	5	140720422	Silent	SNP	G	TCGA-CH-5772-01A-11D-1576-08	483340	140720422	40194838	25	1988											
PCDHGA10	56106	broad.mit.edu	37	chr5	140794395	140794395	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccactcagcagcaacgtgtcGttgagcctgtttgtgctgga	7	11	12	11	2	1	1	1	1	0	0	2	2	1	2	2	1	5	5	2	1	1	2			TCGA-CH-5772-01A-11D-1576-08	TCGA-CH-5772-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a94aed7-03d7-463d-bb87-bca2994f297d	87c4609d-4743-435b-8e1c-b5187a750224	g.chr5:140794395G>A	ENST00000398610.2	+	1	1653	c.1653G>A	c.(1651-1653)tcG>tcA	p.S551S	PCDHGA3_ENST00000253812.6_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB2_ENST00000522605.1_Intron	NM_018913.2|NM_032090.1	NP_061736.1|NP_114479.1	Q9Y5H3	PCDGA_HUMAN	protocadherin gamma subfamily A, 10	551	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.S551S(1)		breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	43			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCAACGTGTCGTTGAGCCTGT	0.597																																						ENST00000398610.2																			1	Substitution - coding silent(1)	p.S551S(1)	prostate(1)	breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						c.(1651-1653)tcG>tcA									187	203	198					5																	140794395		2203	4300	6503	SO:0001819	synonymous_variant	0							g.chr5:140794395G>A		CCDS47292.1, CCDS75343.1	5q31	2010-01-26			ENSG00000253846	ENSG00000253846		"Cadherins / Protocadherins : Clustered"	8697	other	protocadherin		606297				10380929	Standard	NM_018913		Approved	PCDH-GAMMA-A10		Q9Y5H3	OTTHUMG00000163688	ENST00000398610.2:c.1653G>A	5.37:g.140794395G>A						PCDHGA8_ENST00000398604.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA2_ENST00000394576.2_Intron	p.S551S	NM_018913.2|NM_032090.1	NP_061736.1|NP_114479.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1653	+								Q9Y5E0	Silent	SNP	ENST00000398610.2	37	c.1653G>A	CCDS47292.1																																																																																				0.597	PCDHGA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374747.1	NM_018913		10	329	0	0	0	0.38729	0	10	329					A	140794395	G	A	140794395	2	1	37	1	0	0	0	0	0	0	0	1	11551	1132	40	1		1	PCDHGA10	5	140794395	Silent	SNP	G	TCGA-CH-5772-01A-11D-1576-08	73973	140794395	40120865	26	1989											
FAT2	2196	broad.mit.edu	37	chr5	150928993	150928993	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgagtgaagcggggtgggTggaggtttccatcctccaca	7	9	16	9	1	0	2	0	2	0	0	3	3	3	3	3	5	1	2	3	5	1	1			TCGA-CH-5772-01A-11D-1576-08	TCGA-CH-5772-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a94aed7-03d7-463d-bb87-bca2994f297d	87c4609d-4743-435b-8e1c-b5187a750224	g.chr5:150928993T>C	ENST00000261800.5	-	8	4664	c.4652A>G	c.(4651-4653)cAc>cGc	p.H1551R		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	1551	Cadherin 13. {ECO:0000255|PROSITE- ProRule:PRU00043}.				epithelial cell migration (GO:0010631)|homophilic cell adhesion (GO:0007156)	cell-cell adherens junction (GO:0005913)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.H1551R(1)		NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GCGGGGTGGGTGGAGGTTTCC	0.567																																						ENST00000261800.5																			1	Substitution - Missense(1)	p.H1551R(1)	prostate(1)	NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196						c.(4651-4653)cAc>cGc		FAT atypical cadherin 2							77	70	73					5																	150928993		2203	4300	6503	SO:0001583	missense	2196				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding	g.chr5:150928993T>C	AF231022	CCDS4317.1	5q33.1	2014-07-21	2013-05-31		ENSG00000086570	ENSG00000086570		"Cadherins / Cadherin-related"	3596	protein-coding gene	gene with protein product	"cadherin-related family member 9"	604269	"FAT tumor suppressor (Drosophila) homolog 2", "FAT tumor suppressor homolog 2 (Drosophila)"			9693030	Standard	NM_001447		Approved	MEGF1, CDHF8, HFAT2, CDHR9	uc003lue.4	Q9NYQ8	OTTHUMG00000130126	ENST00000261800.5:c.4652A>G	5.37:g.150928993T>C	ENSP00000261800:p.His1551Arg						p.H1551R	NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		8	4664	-		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	1551			Cadherin 13.		O75091|Q9NSR7	Missense_Mutation	SNP	ENST00000261800.5	37	c.4652A>G	CCDS4317.1	.	.	.	.	.	.	.	.	.	.	T	18.48	3.634073	0.67130	.	.	ENSG00000086570	ENST00000261800	T	0.61158	0.13	4.66	4.66	0.58398	Cadherin (3);Cadherin-like (1);	0.000000	0.64402	D	0.000005	T	0.62660	0.2446	M	0.79475	2.455	0.58432	D	0.999999	P	0.52170	0.951	P	0.45406	0.479	T	0.67581	-0.5634	10	0.41790	T	0.15	.	14.386	0.66945	0.0:0.0:0.0:1.0	.	1551	Q9NYQ8	FAT2_HUMAN	R	1551	ENSP00000261800:H1551R	ENSP00000261800:H1551R	H	-	2	0	FAT2	150909186	1.000000	0.71417	0.989000	0.46669	0.619000	0.37552	7.541000	0.82084	1.856000	0.53863	0.459000	0.35465	CAC		0.567	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252434.1	NM_001447		7	94	0	0	0	0.248553	0	7	94					C	150928993	T	C	150928993	3	2	37	1	0	0	0	0	1	0	0	0	5690	1696	59	4	8461	4	FAT2	5	150928993	Missense_Mutation	SNP	T	TCGA-CH-5772-01A-11D-1576-08	10134598	150928993	29986267	27	1990											
FOXF2	2295	broad.mit.edu	37	chr6	1390758	1390758	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gagggctcgttccgccgccgGccgcgcggcttcaggcggaa	4	5	17	15	8	1	0	1	0	0	0	3	2	2	1	4	5	0	3	4	5	1	2			TCGA-CH-5772-01A-11D-1576-08	TCGA-CH-5772-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a94aed7-03d7-463d-bb87-bca2994f297d	87c4609d-4743-435b-8e1c-b5187a750224	g.chr6:1390758G>A	ENST00000259806.1	+	1	690	c.576G>A	c.(574-576)cgG>cgA	p.R192R		NM_001452.1	NP_001443.1	Q12947	FOXF2_HUMAN	forkhead box F2	192					embryonic camera-type eye morphogenesis (GO:0048596)|embryonic digestive tract development (GO:0048566)|epithelial to mesenchymal transition (GO:0001837)|establishment of planar polarity of embryonic epithelium (GO:0042249)|extracellular matrix organization (GO:0030198)|genitalia development (GO:0048806)|negative regulation of transcription, DNA-templated (GO:0045892)|palate development (GO:0060021)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)	p.R192R(1)		large_intestine(2)|lung(5)|prostate(1)	8	Ovarian(93;0.0733)	all_lung(73;0.0713)|all_hematologic(90;0.0895)		OV - Ovarian serous cystadenocarcinoma(45;0.095)		TCCGCCGCCGGCCGCGCGGCT	0.706																																						ENST00000259806.1																			1	Substitution - coding silent(1)	p.R192R(1)	prostate(1)	large_intestine(2)|lung(5)|prostate(1)	8						c.(574-576)cgG>cgA		forkhead box F2							28	35	33					6																	1390758		2192	4290	6482	SO:0001819	synonymous_variant	2295				epithelial to mesenchymal transition|genitalia development|palate development|pattern specification process|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding	g.chr6:1390758G>A	U13220	CCDS4472.1	6p25.3	2008-04-10			ENSG00000137273	ENSG00000137273		"Forkhead boxes"	3810	protein-coding gene	gene with protein product		603250		FKHL6		9799607, 7957066	Standard	NM_001452		Approved	FREAC2	uc003mtm.3	Q12947	OTTHUMG00000016243	ENST00000259806.1:c.576G>A	6.37:g.1390758G>A							p.R192R	NM_001452.1	NP_001443.1	Q12947	FOXF2_HUMAN		OV - Ovarian serous cystadenocarcinoma(45;0.095)	1	690	+	Ovarian(93;0.0733)	all_lung(73;0.0713)|all_hematologic(90;0.0895)	192					Q5TGJ1|Q9UQ85	Silent	SNP	ENST00000259806.1	37	c.576G>A	CCDS4472.1																																																																																				0.706	FOXF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043558.1			4	135	0	0	0	0.150653	0	4	135					A	1390758	G	A	1390758	2	1	37	1	0	0	0	0	0	0	0	1	6006	1190	42	3		3	FOXF2	6	1390758	Silent	SNP	G	TCGA-CH-5772-01A-11D-1576-08		1390758	169724309	28	1991											
EYS	346007	broad.mit.edu	37	chr6	66205045	66205045	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttcagaagaaattacaaggaTatctcctaattgaatttgca	16	13	6	6	0	2	3	1	1	1	2	3	4	2	4	1	1	2	1	1	1	7	6			TCGA-CH-5772-01A-11D-1576-08	TCGA-CH-5772-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a94aed7-03d7-463d-bb87-bca2994f297d	87c4609d-4743-435b-8e1c-b5187a750224	g.chr6:66205045T>C	ENST00000370621.3	-	4	785	c.259A>G	c.(259-261)Atc>Gtc	p.I87V	EYS_ENST00000503581.1_Missense_Mutation_p.I87V|EYS_ENST00000370616.2_Missense_Mutation_p.I87V|EYS_ENST00000370618.3_Missense_Mutation_p.I87V|EYS_ENST00000393380.2_Missense_Mutation_p.I87V|EYS_ENST00000342421.5_Missense_Mutation_p.I87V			Q5T1H1	EYS_HUMAN	eyes shut homolog (Drosophila)	87					detection of light stimulus involved in visual perception (GO:0050908)|skeletal muscle tissue regeneration (GO:0043403)	extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)	p.I87V(2)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						ATTACAAGGATATCTCCTAAT	0.363																																						ENST00000503581.1																			2	Substitution - Missense(2)	p.I87V(2)	prostate(2)	breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						c.(259-261)Atc>Gtc		eyes shut homolog (Drosophila)							80	82	81					6																	66205045		2203	4300	6503	SO:0001583	missense	346007				response to stimulus|visual perception	extracellular region	calcium ion binding	g.chr6:66205045T>C		CCDS4967.1, CCDS47445.1, CCDS47446.1	6q12	2014-01-28	2008-10-20	2008-10-20	ENSG00000188107	ENSG00000188107			21555	protein-coding gene	gene with protein product		612424	"chromosome 6 open reading frame 180", "EGF-like-domain, multiple 11", "retinitis pigmentosa 25 (autosomal recessive)", "EGF-like-domain, multiple 10", "chromosome 6 open reading frame 178", "chromosome 6 open reading frame 179"	C6orf180, EGFL11, RP25, EGFL10, C6orf178, C6orf179		18836446, 18976725	Standard	NM_001142800		Approved	dJ1018A4.2, bA166P24.2, SPAM, bA307F22.3, dJ303F19.1, bA74E24.1	uc011dxu.1	Q5T1H1	OTTHUMG00000014971	ENST00000370621.3:c.259A>G	6.37:g.66205045T>C	ENSP00000359655:p.Ile87Val					EYS_ENST00000370616.2_Missense_Mutation_p.I87V|EYS_ENST00000370618.3_Missense_Mutation_p.I87V|EYS_ENST00000370621.3_Missense_Mutation_p.I87V|EYS_ENST00000393380.2_Missense_Mutation_p.I87V|EYS_ENST00000342421.5_Missense_Mutation_p.I87V	p.I87V	NM_001142800.1	NP_001136272.1	Q5T1H1	EYS_HUMAN			4	796	-			87					A2RUR2|A8MVE7|B7TYK8|B7UUQ3|B7ZBE7|B7ZBE8|B7ZBR3|B9ZVD2|Q5SZM4|Q5T3C8|Q5T669|Q5TEL3|Q5TEL4|Q5VVG4|Q6UY05|Q9H557|Q9NQ15	Missense_Mutation	SNP	ENST00000370621.3	37	c.259A>G		.	.	.	.	.	.	.	.	.	.	T	4.115	0.019591	0.08006	.	.	ENSG00000188107	ENST00000503581;ENST00000370621;ENST00000370616;ENST00000393380;ENST00000342421;ENST00000370618	D;D;D;D;D;D	0.89552	-1.55;-1.54;-1.54;-2.53;-2.49;-2.49	4.92	0.74	0.18330	.	.	.	.	.	T	0.58221	0.2107	N	0.19112	0.55	0.09310	N	1	B;B;B	0.17667	0.004;0.023;0.013	B;B;B	0.17433	0.007;0.018;0.008	T	0.48317	-0.9046	9	0.17369	T	0.5	.	3.9602	0.09407	0.1542:0.1777:0.0:0.6681	.	87;87;87	Q5T1H1-1;Q5T1H1-2;Q5SZM4	.;.;.	V	87	ENSP00000424243:I87V;ENSP00000359655:I87V;ENSP00000359650:I87V;ENSP00000377042:I87V;ENSP00000341818:I87V;ENSP00000359652:I87V	ENSP00000341818:I87V	I	-	1	0	EYS	66261766	0.064000	0.20934	0.018000	0.16275	0.466000	0.32739	0.845000	0.27668	0.275000	0.22094	-0.326000	0.08463	ATC		0.363	EYS-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000351351.3	XM_294050		7	228	0	0	0	0.27861	0	7	228					C	66205045	T	C	66205045	3	2	37	1	0	0	0	0	1	0	0	0	5332	1406	49	4	9297	4	EYS	6	66205045	Missense_Mutation	SNP	T	TCGA-CH-5772-01A-11D-1576-08	64814287	66205045	104910022	29	1992											
MAD1L1	8379	broad.mit.edu	37	chr7	1855777	1855777	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcagggatgctgtcctggcGccgcaggtgcacctcgatga	6	7	16	12	3	0	1	0	1	0	0	2	3	1	2	3	4	2	4	3	4	0	0			TCGA-CH-5772-01A-11D-1576-08	TCGA-CH-5772-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a94aed7-03d7-463d-bb87-bca2994f297d	87c4609d-4743-435b-8e1c-b5187a750224	g.chr7:1855777G>A	ENST00000406869.1	-	19	2643	c.2086C>T	c.(2086-2088)Cgc>Tgc	p.R696C	MAD1L1_ENST00000265854.7_Missense_Mutation_p.R696C|MAD1L1_ENST00000399654.2_Missense_Mutation_p.R696C|MAD1L1_ENST00000402746.1_Missense_Mutation_p.R604C			Q9Y6D9	MD1L1_HUMAN	MAD1 mitotic arrest deficient-like 1 (yeast)	696					mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|regulation of metaphase plate congression (GO:0090235)	actin cytoskeleton (GO:0015629)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|mitotic spindle (GO:0072686)|nucleus (GO:0005634)|spindle (GO:0005819)		p.R696C(2)		central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(5)	36		Ovarian(82;0.0272)		UCEC - Uterine corpus endometrioid carcinoma (27;0.134)|OV - Ovarian serous cystadenocarcinoma(56;3.63e-14)		CTGTCCTGGCGCCGCAGGTGC	0.672																																						ENST00000406869.1																			2	Substitution - Missense(2)	p.R696C(2)	prostate(2)	central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(5)	36						c.(2086-2088)Cgc>Tgc		MAD1 mitotic arrest deficient-like 1 (yeast)							47	58	55					7																	1855777		2077	4204	6281	SO:0001583	missense	8379				cell division|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase|mitotic prometaphase|mitotic telophase	actin cytoskeleton|centrosome|condensed chromosome kinetochore|cytosol|mitochondrion|nucleus|spindle	protein binding	g.chr7:1855777G>A	U33822	CCDS43539.1	7p22	2013-01-17	2001-11-28		ENSG00000002822	ENSG00000002822			6762	protein-coding gene	gene with protein product		602686	"MAD1 (mitotic arrest deficient, yeast, homolog)-like 1"			10049595, 9546394	Standard	XM_005249876		Approved	HsMAD1, TXBP181, MAD1, PIG9, TP53I9	uc003slg.1	Q9Y6D9	OTTHUMG00000151493	ENST00000406869.1:c.2086C>T	7.37:g.1855777G>A	ENSP00000385334:p.Arg696Cys					MAD1L1_ENST00000402746.1_Missense_Mutation_p.R604C|MAD1L1_ENST00000399654.2_Missense_Mutation_p.R696C|MAD1L1_ENST00000265854.7_Missense_Mutation_p.R696C	p.R696C			Q9Y6D9	MD1L1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.134)|OV - Ovarian serous cystadenocarcinoma(56;3.63e-14)	19	2643	-		Ovarian(82;0.0272)	696					B3KR41|Q13312|Q75MI0|Q86UM4|Q9UNH0	Missense_Mutation	SNP	ENST00000406869.1	37	c.2086C>T	CCDS43539.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.953068	0.73902	.	.	ENSG00000002822	ENST00000402746;ENST00000399654;ENST00000406869;ENST00000442131;ENST00000265854;ENST00000450235	T;T;T;T;T	0.23147	1.92;1.92;1.92;1.92;1.92	3.98	3.08	0.35506	.	.	.	.	.	T	0.32010	0.0815	L	0.38175	1.15	0.34882	D	0.744655	D;D	0.63046	0.992;0.98	P;P	0.54174	0.744;0.671	T	0.45775	-0.9238	9	0.59425	D	0.04	-0.1006	13.3932	0.60834	0.0:0.1595:0.8405:0.0	.	604;696	B3KR41;Q9Y6D9	.;MD1L1_HUMAN	C	604;696;696;247;696;247	ENSP00000384155:R604C;ENSP00000382562:R696C;ENSP00000385334:R696C;ENSP00000265854:R696C;ENSP00000394886:R247C	ENSP00000265854:R696C	R	-	1	0	MAD1L1	1822303	0.961000	0.32948	0.744000	0.31058	0.871000	0.50021	4.509000	0.60448	0.646000	0.30693	0.456000	0.33151	CGC		0.672	MAD1L1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322871.1	NM_003550		7	105	0	0	0	0.248553	0	7	105					A	1855777	G	A	1855777	3	1	37	1	0	0	0	0	1	0	0	0	9147	1087	38	1	74	1	MAD1L1	7	1855777	Missense_Mutation	SNP	G	TCGA-CH-5772-01A-11D-1576-08		1855777	157282886	30	1993											
MEOX2	4223	broad.mit.edu	37	chr7	15725595	15725595	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcggccgtagtcccccggcgCgcacgcggccccagtcgggg	3	3	17	18	8	0	0	0	0	0	0	2	0	1	0	5	5	0	2	5	5	1	1			TCGA-CH-5772-01A-11D-1576-08	TCGA-CH-5772-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a94aed7-03d7-463d-bb87-bca2994f297d	87c4609d-4743-435b-8e1c-b5187a750224	g.chr7:15725595C>T	ENST00000262041.5	-	1	842	c.433G>A	c.(433-435)Gcg>Acg	p.A145T	AC005550.4_ENST00000442176.1_lincRNA	NM_005924.4	NP_005915.2	P50222	MEOX2_HUMAN	mesenchyme homeobox 2	145					angiogenesis (GO:0001525)|blood circulation (GO:0008015)|limb development (GO:0060173)|multicellular organismal development (GO:0007275)|neuron death (GO:0070997)|palate development (GO:0060021)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal muscle tissue development (GO:0007519)|somite specification (GO:0001757)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding (GO:0043565)	p.A145T(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	24				UCEC - Uterine corpus endometrioid carcinoma (126;0.0822)		TCCCCCGGCGCGCACGCGGCC	0.711																																					Esophageal Squamous(140;197 1769 16409 18257 29929)	ENST00000262041.5																			1	Substitution - Missense(1)	p.A145T(1)	prostate(1)	breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	24						c.(433-435)Gcg>Acg		mesenchyme homeobox 2							27	33	31					7																	15725595		2182	4263	6445	SO:0001583	missense	4223				blood circulation|multicellular organismal development	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:15725595C>T		CCDS34605.1	7p22.1-p21.3	2014-07-15	2005-12-22		ENSG00000106511	ENSG00000106511		"Homeoboxes / ANTP class : HOXL subclass"	7014	protein-coding gene	gene with protein product	"growth arrest-specific homeobox"	600535	"mesenchyme homeo box 2 (growth arrest-specific homeo box)", "mesenchyme homeobox 2 (growth arrest-specific homeo box)"	GAX		7713505	Standard	NM_005924		Approved	MOX2	uc003stc.3	P50222	OTTHUMG00000152390	ENST00000262041.5:c.433G>A	7.37:g.15725595C>T	ENSP00000262041:p.Ala145Thr						p.A145T	NM_005924.4	NP_005915.2	P50222	MEOX2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.0822)	1	842	-			145					B2R8I7|O75263|Q9UPL6	Missense_Mutation	SNP	ENST00000262041.5	37	c.433G>A	CCDS34605.1	.	.	.	.	.	.	.	.	.	.	C	15.49	2.849760	0.51270	.	.	ENSG00000106511	ENST00000262041	D	0.90197	-2.63	5.43	4.55	0.56014	.	0.196724	0.43260	D	0.000596	T	0.78240	0.4252	N	0.08118	0	0.40630	D	0.981842	B	0.31519	0.327	B	0.17433	0.018	T	0.75654	-0.3243	10	0.12766	T	0.61	-4.8568	15.8844	0.79232	0.0:0.8555:0.1445:0.0	.	145	P50222	MEOX2_HUMAN	T	145	ENSP00000262041:A145T	ENSP00000262041:A145T	A	-	1	0	MEOX2	15692120	1.000000	0.71417	0.999000	0.59377	0.989000	0.77384	4.217000	0.58547	1.282000	0.44496	0.655000	0.94253	GCG		0.711	MEOX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326058.2	NM_005924		5	219	0	0	0	0.217242	0	5	219					T	15725595	C	T	15725595	3	4	37	1	0	0	0	0	1	0	0	0	9474	768	27	1	493	1	MEOX2	7	15725595	Missense_Mutation	SNP	C	TCGA-CH-5772-01A-11D-1576-08	13869818	15725595	143413068	31	1994											
HECW1	23072	broad.mit.edu	37	chr7	43484982	43484982	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acggtcttctcctcgcaagaCgacgaggaggaggagaacag	12	5	14	10	4	2	2	0	0	2	2	4	7	2	4	1	4	1	1	1	4	2	1			TCGA-CH-5772-01A-11D-1576-08	TCGA-CH-5772-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a94aed7-03d7-463d-bb87-bca2994f297d	87c4609d-4743-435b-8e1c-b5187a750224	g.chr7:43484982C>T	ENST00000395891.2	+	11	2816	c.2211C>T	c.(2209-2211)gaC>gaT	p.D737D	HECW1_ENST00000453890.1_Silent_p.D737D	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1	737					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)	p.D737D(2)|p.D716D(1)		NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						CCTCGCAAGACGACGAGGAGG	0.652																																						ENST00000395891.1																			3	Substitution - coding silent(3)	p.D737D(2)|p.D716D(1)	prostate(3)	NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						c.(2209-2211)gaC>gaT		HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1							67	72	70					7																	43484982		2113	4222	6335	SO:0001819	synonymous_variant	23072				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity	g.chr7:43484982C>T	AB048365	CCDS5469.2, CCDS69286.1	7p13	2004-12-13			ENSG00000002746	ENSG00000002746			22195	protein-coding gene	gene with protein product		610384				12690205, 14684739	Standard	XM_005249665		Approved	KIAA0322, NEDL1	uc003tid.1	Q76N89	OTTHUMG00000128917	ENST00000395891.2:c.2211C>T	7.37:g.43484982C>T						HECW1_ENST00000453890.1_Silent_p.D737D	p.D737D	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN			11	2816	+			737					A7E2X0|A8MYS3|B4DH42|O15036|Q9HCC7	Silent	SNP	ENST00000395891.2	37	c.2211C>T	CCDS5469.2																																																																																				0.652	HECW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250893.2	NM_015052		76	122	0	0	0	0.870114	0	76	122					T	43484982	C	T	43484982	2	4	37	1	0	0	0	0	0	0	0	1	7042	535	19	1		1	HECW1	7	43484982	Silent	SNP	C	TCGA-CH-5772-01A-11D-1576-08	27759387	43484982	115653681	32	1995											
KIAA1549	57670	broad.mit.edu	37	chr7	138603105	138603105	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aggtgaaggcacagtgcaggCcgcacaccaagtgtatggtc	11	6	14	10	1	0	1	0	1	0	0	1	1	0	1	2	4	1	4	2	4	3	1			TCGA-CH-5772-01A-11D-1576-08	TCGA-CH-5772-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a94aed7-03d7-463d-bb87-bca2994f297d	87c4609d-4743-435b-8e1c-b5187a750224	g.chr7:138603105C>G	ENST00000422774.1	-	2	1315	c.1267G>C	c.(1267-1269)Gcc>Ccc	p.A423P	KIAA1549_ENST00000242365.4_Missense_Mutation_p.A373P|KIAA1549_ENST00000440172.1_Missense_Mutation_p.A423P			Q9HCM3	K1549_HUMAN	KIAA1549	423						integral component of membrane (GO:0016021)		p.A423P(1)|p.A373P(1)	KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						ACAGTGCAGGCCGCACACCAA	0.562			O	BRAF	pilocytic astrocytoma																																NSCLC(119;1534 1718 44213 46230 50068)	ENST00000440172.1				Dom	yes		7	7q34	57670	O	KIAA1549			O	BRAF		pilocytic astrocytoma	KIAA1549/BRAF(703)	2	Substitution - Missense(2)	p.A423P(1)|p.A373P(1)	prostate(2)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						c.(1267-1269)Gcc>Ccc		KIAA1549							110	108	109					7																	138603105		2078	4214	6292	SO:0001583	missense	57670					integral to membrane		g.chr7:138603105C>G		CCDS47723.1, CCDS47723.2, CCDS56513.1	7q34	2009-10-09			ENSG00000122778	ENSG00000122778			22219	protein-coding gene	gene with protein product		613344					Standard	NM_020910		Approved		uc011kql.2	Q9HCM3	OTTHUMG00000157214	ENST00000422774.1:c.1267G>C	7.37:g.138603105C>G	ENSP00000416040:p.Ala423Pro					KIAA1549_ENST00000422774.1_Missense_Mutation_p.A423P|KIAA1549_ENST00000242365.4_Missense_Mutation_p.A373P	p.A423P	NM_001164665.1|NM_020910.2	NP_001158137.1|NP_065961.2	Q9HCM3	K1549_HUMAN			2	1315	-			423					B6HY55|B6HY56|B6HY58|B6HY60|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q5BJD6|Q8IY15|Q9H0M3	Missense_Mutation	SNP	ENST00000422774.1	37	c.1267G>C	CCDS56513.1	.	.	.	.	.	.	.	.	.	.	C	10.21	1.288064	0.23478	.	.	ENSG00000122778	ENST00000440172;ENST00000242365;ENST00000422774	T;T;T	0.23754	1.89;1.9;1.89	4.85	2.45	0.29901	.	0.847527	0.10288	N	0.692712	T	0.10895	0.0266	N	0.08118	0	0.09310	N	1	P;P	0.41265	0.627;0.744	B;B	0.34652	0.091;0.187	T	0.11397	-1.0589	10	0.32370	T	0.25	.	6.1281	0.20189	0.7423:0.171:0.0867:0.0	.	423;423	Q9HCM3;Q9HCM3-2	K1549_HUMAN;.	P	423;373;423	ENSP00000406661:A423P;ENSP00000242365:A373P;ENSP00000416040:A423P	ENSP00000242365:A373P	A	-	1	0	KIAA1549	138253645	0.162000	0.22906	0.244000	0.24202	0.008000	0.06430	0.814000	0.27239	0.897000	0.36392	-0.262000	0.10625	GCC		0.562	KIAA1549-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348092.1			57	80	0	0	0	0.870114	0	57	80					G	138603105	C	G	138603105	3	3	37	1	0	0	0	0	1	0	0	0	8244	739	26	5	4661	5	KIAA1549	7	138603105	Missense_Mutation	SNP	C	TCGA-CH-5772-01A-11D-1576-08	95118123	138603105	20535558	33	1996											
OR2A5	393046	broad.mit.edu	37	chr7	143747902	143747902	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctgcaatattctgtcatcatGagatggggagtgtgcacagt	10	12	12	7	0	3	1	2	1	1	1	3	3	3	2	0	2	2	2	0	2	2	2			TCGA-CH-5772-01A-11D-1576-08	TCGA-CH-5772-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a94aed7-03d7-463d-bb87-bca2994f297d	87c4609d-4743-435b-8e1c-b5187a750224	g.chr7:143747902G>A	ENST00000408906.2	+	1	442	c.408G>A	c.(406-408)atG>atA	p.M136I		NM_012365.1	NP_036497.1	Q96R48	OR2A5_HUMAN	olfactory receptor, family 2, subfamily A, member 5	136						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.M136I(1)		cervix(1)|endometrium(3)|large_intestine(5)|lung(23)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	38	Melanoma(164;0.0783)					CTGTCATCATGAGATGGGGAG	0.512																																						ENST00000408906.2																			1	Substitution - Missense(1)	p.M136I(1)	prostate(1)	cervix(1)|endometrium(3)|large_intestine(5)|lung(23)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	38						c.(406-408)atG>atA		olfactory receptor, family 2, subfamily A, member 5							187	193	191					7																	143747902		2128	4247	6375	SO:0001583	missense	393046				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr7:143747902G>A	U86278	CCDS43668.1	7q35	2013-09-20	2003-11-24		ENSG00000221836	ENSG00000221836		"GPCR / Class A : Olfactory receptors"	8232	protein-coding gene	gene with protein product			"olfactory receptor, family 2, subfamily A, member 5"	OR2A8, OR2A26		9500546	Standard	NM_012365		Approved	OR7-138, OR7-141	uc011ktw.2	Q96R48	OTTHUMG00000158006	ENST00000408906.2:c.408G>A	7.37:g.143747902G>A	ENSP00000386208:p.Met136Ile						p.M136I	NM_012365.1	NP_036497.1	Q96R48	OR2A5_HUMAN			1	442	+	Melanoma(164;0.0783)		136					B9EGX2|O43885|O43888	Missense_Mutation	SNP	ENST00000408906.2	37	c.408G>A	CCDS43668.1	.	.	.	.	.	.	.	.	.	.	G	9.840	1.190889	0.21954	.	.	ENSG00000221836	ENST00000408906	T	0.00551	6.65	5.25	5.25	0.73442	GPCR, rhodopsin-like superfamily (1);	0.000000	0.38436	U	0.001688	T	0.01156	0.0038	M	0.83223	2.63	0.29425	N	0.860251	B	0.20164	0.042	B	0.23852	0.049	T	0.07986	-1.0744	10	0.72032	D	0.01	.	16.3726	0.83370	0.0:0.0:1.0:0.0	.	136	Q96R48	OR2A5_HUMAN	I	136	ENSP00000386208:M136I	ENSP00000386208:M136I	M	+	3	0	OR2A5	143378835	1.000000	0.71417	1.000000	0.80357	0.202000	0.24057	4.248000	0.58760	2.728000	0.93425	0.557000	0.71058	ATG		0.512	OR2A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349986.1			7	441	0	0	0	0.27861	0	7	441					A	143747902	G	A	143747902	3	1	37	1	0	0	0	0	1	0	0	0	10981	1290	45	3	410	3	OR2A5	7	143747902	Missense_Mutation	SNP	G	TCGA-CH-5772-01A-11D-1576-08	5144797	143747902	15390761	34	1997											
KCNB2	9312	broad.mit.edu	37	chr8	73480433	73480433	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaacgaagaactgaggcgagAggcagagactatgcgagagc	15	3	16	7	3	0	5	0	1	0	4	0	10	0	5	0	2	4	1	0	2	4	1			TCGA-CH-5772-01A-11D-1576-08	TCGA-CH-5772-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a94aed7-03d7-463d-bb87-bca2994f297d	87c4609d-4743-435b-8e1c-b5187a750224	g.chr8:73480433A>T	ENST00000523207.1	+	2	1052	c.464A>T	c.(463-465)gAg>gTg	p.E155V		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	155					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of smooth muscle contraction (GO:0006940)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)	p.E155V(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)		Dalfampridine(DB06637)	CTGAGGCGAGAGGCAGAGACT	0.453																																						ENST00000523207.1																			1	Substitution - Missense(1)	p.E155V(1)	prostate(1)	NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85						c.(463-465)gAg>gTg		potassium voltage-gated channel, Shab-related subfamily, member 2							134	141	138					8																	73480433		2203	4300	6503	SO:0001583	missense	9312				regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding	g.chr8:73480433A>T	U69962	CCDS6209.1	8q13.2	2012-07-05			ENSG00000182674	ENSG00000182674		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6232	protein-coding gene	gene with protein product		607738				9612272, 16382104	Standard	NM_004770		Approved	Kv2.2	uc003xzb.3	Q92953	OTTHUMG00000164498	ENST00000523207.1:c.464A>T	8.37:g.73480433A>T	ENSP00000430846:p.Glu155Val						p.E155V	NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	Epithelial(68;0.105)		2	1052	+	Breast(64;0.137)		155					Q7Z7D0|Q9BXD3	Missense_Mutation	SNP	ENST00000523207.1	37	c.464A>T	CCDS6209.1	.	.	.	.	.	.	.	.	.	.	A	23.5	4.419981	0.83559	.	.	ENSG00000182674	ENST00000523207	D	0.97752	-4.52	6.07	6.07	0.98685	.	0.000000	0.33813	U	0.004527	D	0.96716	0.8928	L	0.58101	1.795	0.80722	D	1	P	0.34462	0.454	B	0.37601	0.254	D	0.96476	0.9352	10	0.66056	D	0.02	.	16.3141	0.82909	1.0:0.0:0.0:0.0	.	155	Q92953	KCNB2_HUMAN	V	155	ENSP00000430846:E155V	ENSP00000430846:E155V	E	+	2	0	KCNB2	73642987	1.000000	0.71417	1.000000	0.80357	0.798000	0.45092	9.339000	0.96797	2.326000	0.78906	0.533000	0.62120	GAG		0.453	KCNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378998.1	NM_004770		9	185	0	0	0	0.307466	0	9	185					T	73480433	A	T	73480433	3	4	37	1	0	0	0	0	1	0	0	0	8013	304	11	5	466	5	KCNB2	8	73480433	Missense_Mutation	SNP	A	TCGA-CH-5772-01A-11D-1576-08		73480433	72883589	35	1998											
GDF6	392255	broad.mit.edu	37	chr8	97156855	97156855	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtagaccacattattgcccGcgtcgatgtatagaatgctg	10	12	10	9	3	0	2	0	0	0	2	1	3	0	2	2	0	2	3	2	0	5	5	rs140782427		TCGA-CH-5772-01A-11D-1576-08	TCGA-CH-5772-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a94aed7-03d7-463d-bb87-bca2994f297d	87c4609d-4743-435b-8e1c-b5187a750224	g.chr8:97156855G>A	ENST00000287020.5	-	2	1403	c.1304C>T	c.(1303-1305)gCg>gTg	p.A435V		NM_001001557.2	NP_001001557.1	Q6KF10	GDF6_HUMAN	growth differentiation factor 6	435					activin receptor signaling pathway (GO:0032924)|apoptotic process (GO:0006915)|BMP signaling pathway (GO:0030509)|growth (GO:0040007)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of transcription, DNA-templated (GO:0045893)|retinal cell apoptotic process (GO:1990009)	extracellular space (GO:0005615)		p.A435V(1)		breast(2)|cervix(1)|endometrium(1)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	27	Breast(36;2.67e-05)					ATTATTGCCCGCGTCGATGTA	0.602																																						ENST00000287020.5																			1	Substitution - Missense(1)	p.A435V(1)	prostate(1)	breast(2)|cervix(1)|endometrium(1)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	27						c.(1303-1305)gCg>gTg		growth differentiation factor 6		G	VAL/ALA	0,4406		0,0,2203	51	58	56		1304	5.1	1	8	dbSNP_134	56	2,8598	2.2+/-6.3	0,2,4298	yes	missense	GDF6	NM_001001557.2	64	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	probably-damaging	435/456	97156855	2,13004	2203	4300	6503	SO:0001583	missense	392255				activin receptor signaling pathway|BMP signaling pathway|growth|pathway-restricted SMAD protein phosphorylation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent	extracellular space	cytokine activity|growth factor activity	g.chr8:97156855G>A		CCDS34926.1	8q22.1	2014-01-29			ENSG00000156466	ENSG00000156466			4221	protein-coding gene	gene with protein product		601147	"segmentation syndrome 1"	SGM1		10022976, 18425797	Standard	NM_001001557		Approved	BMP13, KFS, KFS1	uc003yhp.3	Q6KF10	OTTHUMG00000164710	ENST00000287020.5:c.1304C>T	8.37:g.97156855G>A	ENSP00000287020:p.Ala435Val						p.A435V	NM_001001557.2	NP_001001557.1	Q6KF10	GDF6_HUMAN			2	1403	-	Breast(36;2.67e-05)		435					Q6PI58	Missense_Mutation	SNP	ENST00000287020.5	37	c.1304C>T	CCDS34926.1	.	.	.	.	.	.	.	.	.	.	G	32	5.156405	0.94686	0.0	2.33E-4	ENSG00000156466	ENST00000287020	D	0.84223	-1.82	5.09	5.09	0.68999	Transforming growth factor-beta, C-terminal (3);	0.149370	0.46758	D	0.000273	D	0.89350	0.6690	L	0.41356	1.27	0.49687	D	0.999817	D	0.89917	1.0	D	0.74348	0.983	D	0.89845	0.4005	10	0.59425	D	0.04	.	18.3175	0.90226	0.0:0.0:1.0:0.0	.	435	Q6KF10	GDF6_HUMAN	V	435	ENSP00000287020:A435V	ENSP00000287020:A435V	A	-	2	0	GDF6	97226031	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.595000	0.98260	2.648000	0.89879	0.650000	0.86243	GCG		0.602	GDF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379862.2	NM_001001557		7	56	0	0	0	0.248553	0	7	56					A	97156855	G	A	97156855	3	1	37	1	0	0	0	0	1	0	0	0	6317	1087	38	1	67	1	GDF6	8	97156855	Missense_Mutation	SNP	G	TCGA-CH-5772-01A-11D-1576-08	23676422	97156855	49207167	36	1999											
C9orf93	203238	broad.mit.edu	37	chr9	15744747	15744747	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcatgttagtgtgcacaggAgagccccaagacaagcataa	14	6	12	9	0	0	2	0	0	0	2	0	3	0	2	2	2	3	4	2	2	4	2			TCGA-CH-5772-01A-11D-1576-08	TCGA-CH-5772-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a94aed7-03d7-463d-bb87-bca2994f297d	87c4609d-4743-435b-8e1c-b5187a750224	g.chr9:15744747A>G	ENST00000380701.3	+	17	2854	c.2526A>G	c.(2524-2526)ggA>ggG	p.G842G	CCDC171_ENST00000297641.3_Silent_p.G842G	NM_173550.2	NP_775821.2	Q6TFL3	CC171_HUMAN	coiled-coil domain containing 171	842								p.G842G(1)|p.G109G(1)									TGTGCACAGGAGAGCCCCAAG	0.398																																						ENST00000380701.3																			2	Substitution - coding silent(2)	p.G842G(1)|p.G109G(1)	prostate(2)								c.(2524-2526)ggA>ggG		coiled-coil domain containing 171							60	58	58					9																	15744747		2203	4300	6503	SO:0001819	synonymous_variant	203238							g.chr9:15744747A>G	AY422473	CCDS6481.1	9p22.2	2012-03-26	2012-03-26	2012-03-26	ENSG00000164989	ENSG00000164989			29828	protein-coding gene	gene with protein product	"myosin tail domain containing protein"		"chromosome 9 open reading frame 93"	C9orf93		14702039	Standard	NM_173550		Approved	FLJ39267, FLJ46740, Em:AL513423.1, bA778P13.1, bA536D16.1	uc003zmd.3	Q6TFL3	OTTHUMG00000019584	ENST00000380701.3:c.2526A>G	9.37:g.15744747A>G						CCDC171_ENST00000297641.3_Silent_p.G842G	p.G842G	NM_173550.2	NP_775821.2	Q6TFL3	CI093_HUMAN			17	2854	+			842					B7ZM22|Q5SU58|Q6P1W1|Q6ZR13|Q8N1Z4|Q8N8L3|Q8TBR2	Silent	SNP	ENST00000380701.3	37	c.2526A>G	CCDS6481.1	.	.	.	.	.	.	.	.	.	.	A	5.424	0.263440	0.10294	.	.	ENSG00000164989	ENST00000449575	.	.	.	5.46	4.33	0.51752	.	.	.	.	.	T	0.59865	0.2225	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.56498	-0.7969	4	.	.	.	-21.3302	9.6282	0.39763	0.8513:0.0:0.1487:0.0	.	.	.	.	G	82	.	.	E	+	2	0	C9orf93	15734747	1.000000	0.71417	1.000000	0.80357	0.642000	0.38348	3.556000	0.53734	1.032000	0.39892	0.383000	0.25322	GAG		0.398	CCDC171-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051768.4	NM_173550		34	57	0	0	0	0.779181	0	34	57					G	15744747	A	G	15744747	2	3	37	1	0	0	0	0	0	0	0	1	2506	291	11	4		4	C9orf93	9	15744747	Silent	SNP	A	TCGA-CH-5772-01A-11D-1576-08		15744747	125468684	37	2000											
IFNA10	3446	broad.mit.edu	37	chr9	21206631	21206631	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acaagggctgtatttcctctCtattagataaagagtgattc	12	14	8	7	0	1	3	0	1	1	2	4	3	2	3	1	1	0	2	1	1	6	6			TCGA-CH-5772-01A-11D-1576-08	TCGA-CH-5772-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a94aed7-03d7-463d-bb87-bca2994f297d	87c4609d-4743-435b-8e1c-b5187a750224	g.chr9:21206631C>G	ENST00000357374.2	-	1	511	c.466G>C	c.(466-468)Gag>Cag	p.E156Q		NM_002171.1	NP_002162.1	P01566	IFN10_HUMAN	interferon, alpha 10	156					adaptive immune response (GO:0002250)|B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|natural killer cell activation involved in immune response (GO:0002323)|positive regulation of peptidyl-serine phosphorylation of STAT protein (GO:0033141)|regulation of MHC class I biosynthetic process (GO:0045343)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to exogenous dsRNA (GO:0043330)|T cell activation involved in immune response (GO:0002286)|type I interferon signaling pathway (GO:0060337)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	cytokine activity (GO:0005125)|type I interferon receptor binding (GO:0005132)	p.E156Q(1)		endometrium(1)|large_intestine(3)|liver(1)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	16				Lung(24;1.26e-23)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.17)		TATTTCCTCTCTATTAGATAA	0.448																																						ENST00000357374.2																			1	Substitution - Missense(1)	p.E156Q(1)	prostate(1)	endometrium(1)|large_intestine(3)|liver(1)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	16						c.(466-468)Gag>Cag		interferon, alpha 10							271	275	274					9																	21206631		2203	4300	6503	SO:0001583	missense	3446				blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|cytokine receptor binding	g.chr9:21206631C>G		CCDS6499.1	9p22	2010-08-24			ENSG00000186803	ENSG00000186803		"Interferons"	5418	protein-coding gene	gene with protein product		147577				1385305	Standard	NM_002171		Approved	IFN-alphaC	uc003zoq.1	P01566	OTTHUMG00000019658	ENST00000357374.2:c.466G>C	9.37:g.21206631C>G	ENSP00000369566:p.Glu156Gln						p.E156Q	NM_002171.1	NP_002162.1	P01566	IFN10_HUMAN		Lung(24;1.26e-23)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.17)	1	511	-			156					Q5VV13	Missense_Mutation	SNP	ENST00000357374.2	37	c.466G>C	CCDS6499.1	.	.	.	.	.	.	.	.	.	.	-	15.88	2.963784	0.53507	.	.	ENSG00000186803	ENST00000357374	T	0.06849	3.25	3.75	3.75	0.43078	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	0.361767	0.28834	N	0.014000	T	0.32010	0.0815	M	0.88450	2.955	0.21499	N	0.999666	P	0.48694	0.914	D	0.64776	0.929	T	0.08722	-1.0708	10	0.87932	D	0	.	12.9165	0.58209	0.0:1.0:0.0:0.0	.	156	P01566	IFN10_HUMAN	Q	156	ENSP00000369566:E156Q	ENSP00000369566:E156Q	E	-	1	0	IFNA10	21196631	0.002000	0.14202	0.043000	0.18650	0.116000	0.19942	0.321000	0.19558	1.806000	0.52798	0.499000	0.49734	GAG		0.448	IFNA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051887.1	NM_002171		8	723	0	0	0	0.27861	0	8	723					G	21206631	C	G	21206631	3	3	37	1	0	0	0	0	1	0	0	0	7532	922	32	5	107	5	IFNA10	9	21206631	Missense_Mutation	SNP	C	TCGA-CH-5772-01A-11D-1576-08	5461884	21206631	120006800	38	2001											
KIAA1045	23349	broad.mit.edu	37	chr9	34971518	34971518	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tccaggaagagagtagtgccGgccgcgcagcctgggagcgg	8	4	18	11	4	0	1	0	0	0	1	1	4	1	3	4	4	3	2	4	4	2	1			TCGA-CH-5772-01A-11D-1576-08	TCGA-CH-5772-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a94aed7-03d7-463d-bb87-bca2994f297d	87c4609d-4743-435b-8e1c-b5187a750224	g.chr9:34971518G>A	ENST00000242315.3	+	2	305	c.223G>A	c.(223-225)Ggc>Agc	p.G75S	KIAA1045_ENST00000476115.2_Intron|KIAA1045_ENST00000544237.1_Missense_Mutation_p.G75S	NM_015297.1	NP_056112.1	Q9UPV7	K1045_HUMAN	KIAA1045	75							metal ion binding (GO:0046872)	p.G75S(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19			LUSC - Lung squamous cell carcinoma(32;0.00575)			GAGTAGTGCCGGCCGCGCAGC	0.652																																						ENST00000242315.3																			1	Substitution - Missense(1)	p.G75S(1)	prostate(1)	breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(223-225)Ggc>Agc		KIAA1045							63	77	72					9																	34971518		2015	4171	6186	SO:0001583	missense	23349						calcium ion binding	g.chr9:34971518G>A	AB028968	CCDS43796.1	9p13.2	2008-02-05			ENSG00000122733	ENSG00000122733			29180	protein-coding gene	gene with protein product						10470851	Standard	NM_015297		Approved		uc003zvr.3	Q9UPV7	OTTHUMG00000019844	ENST00000242315.3:c.223G>A	9.37:g.34971518G>A	ENSP00000242315:p.Gly75Ser					KIAA1045_ENST00000544237.1_Missense_Mutation_p.G75S|KIAA1045_ENST00000476115.2_Intron	p.G75S	NM_015297.1	NP_056112.1	Q9UPV7	K1045_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00575)		2	305	+			75					B7Z253|Q58FE9|Q5T662	Missense_Mutation	SNP	ENST00000242315.3	37	c.223G>A	CCDS43796.1	.	.	.	.	.	.	.	.	.	.	g	10.90	1.482556	0.26598	.	.	ENSG00000122733	ENST00000544237;ENST00000242315	.	.	.	5.8	-3.52	0.04682	.	0.378441	0.29300	N	0.012555	T	0.12518	0.0304	N	0.08118	0	0.18873	N	0.999989	B	0.02656	0.0	B	0.01281	0.0	T	0.19614	-1.0300	8	.	.	.	-8.1762	5.543	0.17049	0.3647:0.4597:0.0646:0.1109	.	75	Q9UPV7	K1045_HUMAN	S	75	.	.	G	+	1	0	KIAA1045	34961518	0.088000	0.21588	0.001000	0.08648	0.027000	0.11550	0.890000	0.28295	-0.455000	0.07054	-1.261000	0.01458	GGC		0.652	KIAA1045-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052256.2	XM_048592		67	103	0	0	0	0.870114	0	67	103					A	34971518	G	A	34971518	3	1	37	1	0	0	0	0	1	0	0	0	8207	1116	39	2	225	2	KIAA1045	9	34971518	Missense_Mutation	SNP	G	TCGA-CH-5772-01A-11D-1576-08	13764887	34971518	106241913	39	2002											
AK1	203	broad.mit.edu	37	chr9	130630299	130630299	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcgttgctactttagggcGtccaggtgggtgcagacctg	6	10	15	10	2	0	1	0	0	0	1	1	1	1	1	2	3	4	3	2	3	2	4			TCGA-CH-5772-01A-11D-1576-08	TCGA-CH-5772-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a94aed7-03d7-463d-bb87-bca2994f297d	87c4609d-4743-435b-8e1c-b5187a750224	g.chr9:130630299G>A	ENST00000373176.1	-	7	725	c.573C>T	c.(571-573)gaC>gaT	p.D191D	RP11-203J24.9_ENST00000476274.2_RNA|AK1_ENST00000373156.1_Silent_p.D191D|MIR4672_ENST00000583126.1_RNA|AK1_ENST00000223836.10_Silent_p.D207D	NM_000476.2	NP_000467.1			adenylate kinase 1									p.D191D(2)		endometrium(1)|prostate(1)	2						ACTTTAGGGCGTCCAGGTGGG	0.667																																						ENST00000373176.1																			2	Substitution - coding silent(2)	p.D191D(2)	prostate(2)	endometrium(1)|prostate(1)	2						c.(571-573)gaC>gaT		adenylate kinase 1							83	78	80					9																	130630299		2203	4300	6503	SO:0001819	synonymous_variant	203				ATP metabolic process|nucleobase, nucleoside and nucleotide interconversion	cytosol	adenylate kinase activity|ATP binding|protein binding	g.chr9:130630299G>A	J04809	CCDS6881.1	9q34.1	2008-02-05			ENSG00000106992	ENSG00000106992	2.7.4.3	"Adenylate kinases"	361	protein-coding gene	gene with protein product		103000					Standard	NM_000476		Approved		uc004bsm.4	P00568	OTTHUMG00000020722	ENST00000373176.1:c.573C>T	9.37:g.130630299G>A						RP11-203J24.9_ENST00000476274.2_RNA|AK1_ENST00000373156.1_Silent_p.D191D|AK1_ENST00000223836.10_Silent_p.D207D	p.D191D	NM_000476.2	NP_000467.1	P00568	KAD1_HUMAN			7	725	-			191						Silent	SNP	ENST00000373176.1	37	c.573C>T	CCDS6881.1	.	.	.	.	.	.	.	.	.	.	G	2.102	-0.405903	0.04832	.	.	ENSG00000106992	ENST00000413016	.	.	.	4.66	-8.76	0.00830	.	.	.	.	.	T	0.66733	0.2819	.	.	.	0.58432	D	0.999999	.	.	.	.	.	.	T	0.73541	-0.3950	4	.	.	.	-25.0768	20.515	0.99213	0.2287:0.0:0.7713:0.0	.	.	.	.	M	132	.	.	T	-	2	0	AK1	129670120	0.001000	0.12720	0.044000	0.18714	0.340000	0.28889	-0.438000	0.06905	-1.903000	0.01093	-0.793000	0.03317	ACG		0.667	AK1-008	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054307.1			10	102	0	0	0	0.38729	0	10	102					A	130630299	G	A	130630299	2	1	37	1	0	0	0	0	0	0	0	1	439	1136	40	1		1	AK1	9	130630299	Silent	SNP	G	TCGA-CH-5772-01A-11D-1576-08	95658781	130630299	10583132	40	2003											
GFI1B	8328	broad.mit.edu	37	chr9	135866396	135866396	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	aaggcttccagcgcaaggtgGacctgcggcggcaccgcgag	8	4	16	13	5	0	0	0	0	0	0	1	2	1	1	3	5	2	3	3	5	2	1			TCGA-CH-5772-01A-11D-1576-08	TCGA-CH-5772-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a94aed7-03d7-463d-bb87-bca2994f297d	87c4609d-4743-435b-8e1c-b5187a750224	g.chr9:135866396G>A	ENST00000339463.3	+	11	1771	c.952G>A	c.(952-954)Gac>Aac	p.D318N	GFI1B_ENST00000372122.1_Missense_Mutation_p.D318N|GFI1B_ENST00000534944.1_Missense_Mutation_p.D272N|GFI1B_ENST00000372123.1_Missense_Mutation_p.D272N|GFI1B_ENST00000372124.1_Missense_Mutation_p.D272N|GFI1B_ENST00000450530.1_Missense_Mutation_p.D318N			Q5VTD9	GFI1B_HUMAN	growth factor independent 1B transcription repressor	318	Interaction with ARIH2.|Mediates interaction with GATA1.				cell proliferation (GO:0008283)|chromatin modification (GO:0016568)|multicellular organismal development (GO:0007275)|negative regulation of histone H3-K4 methylation (GO:0051572)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of histone H3-K9 methylation (GO:0051574)|regulation of erythrocyte differentiation (GO:0045646)|transcription from RNA polymerase II promoter (GO:0006366)	nuclear matrix (GO:0016363)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II transcription factor binding (GO:0001085)	p.D318N(2)		central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)	21				OV - Ovarian serous cystadenocarcinoma(145;9.04e-07)|Epithelial(140;1.17e-05)		GCGCAAGGTGGACCTGCGGCG	0.652																																						ENST00000339463.3																			2	Substitution - Missense(2)	p.D318N(2)	ovary(1)|prostate(1)	central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)	21						c.(952-954)Gac>Aac		growth factor independent 1B transcription repressor							91	77	81					9																	135866396		2203	4300	6503	SO:0001583	missense	8328				cell proliferation|chromatin modification|multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle|transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|zinc ion binding	g.chr9:135866396G>A	AF081946	CCDS6957.1, CCDS48049.1	9q34.13	2014-09-17	2007-10-04		ENSG00000165702	ENSG00000165702		"Zinc fingers, C2H2-type"	4238	protein-coding gene	gene with protein product		604383	"growth factor independent 1B (potential regulator of CDKN1A, translocated in CML)"			9878267	Standard	NM_001135031		Approved		uc004ccg.3	Q5VTD9	OTTHUMG00000020848	ENST00000339463.3:c.952G>A	9.37:g.135866396G>A	ENSP00000344782:p.Asp318Asn					GFI1B_ENST00000372122.1_Missense_Mutation_p.D318N|GFI1B_ENST00000534944.1_Missense_Mutation_p.D272N|GFI1B_ENST00000372124.1_Missense_Mutation_p.D272N|GFI1B_ENST00000372123.1_Missense_Mutation_p.D272N|GFI1B_ENST00000450530.1_Missense_Mutation_p.D318N	p.D318N			Q5VTD9	GFI1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;9.04e-07)|Epithelial(140;1.17e-05)	11	1771	+			318			Interaction with ARIH2.|Mediates interaction with GATA1.		O95270|Q5VTD8|Q6FHZ2|Q6T888	Missense_Mutation	SNP	ENST00000339463.3	37	c.952G>A	CCDS6957.1	.	.	.	.	.	.	.	.	.	.	G	34	5.300935	0.95601	.	.	ENSG00000165702	ENST00000372124;ENST00000339463;ENST00000450530;ENST00000534944;ENST00000372123;ENST00000372122	T;T;T;T;T;T	0.35973	1.28;3.06;3.06;1.28;1.28;3.06	5.0	5.0	0.66597	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.44371	0.1290	N	0.20685	0.6	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	T	0.23976	-1.0173	10	0.18710	T	0.47	-38.7799	17.6439	0.88144	0.0:0.0:1.0:0.0	.	272;318	Q5VTD9-2;Q5VTD9	.;GFI1B_HUMAN	N	272;318;318;272;272;318	ENSP00000361197:D272N;ENSP00000344782:D318N;ENSP00000409546:D318N;ENSP00000446134:D272N;ENSP00000361196:D272N;ENSP00000361195:D318N	ENSP00000344782:D318N	D	+	1	0	GFI1B	134856217	1.000000	0.71417	1.000000	0.80357	0.931000	0.56810	7.823000	0.86660	2.482000	0.83794	0.462000	0.41574	GAC		0.652	GFI1B-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393840.1	NM_004188		35	128	0	0	0	0.796494	0	35	128					A	135866396	G	A	135866396	3	1	37	1	0	0	0	0	1	0	0	0	6340	1174	41	3	974	3	GFI1B	9	135866396	Missense_Mutation	SNP	G	TCGA-CH-5772-01A-11D-1576-08	5236097	135866396	5347035	41	2004											
CHAT	1103	broad.mit.edu	37	chr10	50835688	50835688	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgttgtcattaatttccgccGtctcagtgagggggatctgt	6	15	12	8	2	3	1	2	1	2	0	5	2	4	2	2	2	0	1	2	2	1	3	rs200176236		TCGA-CH-5772-01A-11D-1576-08	TCGA-CH-5772-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a94aed7-03d7-463d-bb87-bca2994f297d	87c4609d-4743-435b-8e1c-b5187a750224	g.chr10:50835688G>A	ENST00000337653.2	+	7	1121	c.968G>A	c.(967-969)cGt>cAt	p.R323H	CHAT_ENST00000351556.3_Missense_Mutation_p.R205H|CHAT_ENST00000455728.2_Missense_Mutation_p.R205H|CHAT_ENST00000395559.2_Missense_Mutation_p.R205H|CHAT_ENST00000339797.1_Missense_Mutation_p.R205H|CHAT_ENST00000395562.2_Missense_Mutation_p.R241H	NM_001142929.1|NM_020549.4	NP_001136401.1|NP_065574	P28329	CLAT_HUMAN	choline O-acetyltransferase	323					adult walking behavior (GO:0007628)|dendrite development (GO:0016358)|establishment of synaptic specificity at neuromuscular junction (GO:0007529)|glycerophospholipid biosynthetic process (GO:0046474)|muscle organ development (GO:0007517)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter secretion (GO:0007269)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|rhythmic behavior (GO:0007622)|rhythmic excitation (GO:0043179)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	choline O-acetyltransferase activity (GO:0004102)	p.R323H(2)		central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(11)|lung(34)|prostate(3)|urinary_tract(1)	56		all_neural(218;0.107)		GBM - Glioblastoma multiforme(2;0.000585)	Choline(DB00122)|Nicotine(DB00184)	AATTTCCGCCGTCTCAGTGAG	0.512																																						ENST00000395562.2																			2	Substitution - Missense(2)	p.R323H(2)	prostate(1)|central_nervous_system(1)	central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(11)|lung(34)|prostate(3)|urinary_tract(1)	56						c.(721-723)cGt>cAt		choline O-acetyltransferase	Choline(DB00122)						216	182	194					10																	50835688		2203	4300	6503	SO:0001583	missense	1103				neurotransmitter biosynthetic process|neurotransmitter secretion	cytosol|nucleus	choline O-acetyltransferase activity	g.chr10:50835688G>A	AF305907	CCDS7232.1, CCDS7233.1, CCDS44389.1	10q11.2	2010-05-11	2010-05-11		ENSG00000070748	ENSG00000070748	2.3.1.6		1912	protein-coding gene	gene with protein product		118490	"choline acetyltransferase"			1840566	Standard	NM_020984		Approved		uc001jhz.2	P28329	OTTHUMG00000018198	ENST00000337653.2:c.968G>A	10.37:g.50835688G>A	ENSP00000337103:p.Arg323His					CHAT_ENST00000351556.3_Missense_Mutation_p.R205H|CHAT_ENST00000395559.2_Missense_Mutation_p.R205H|CHAT_ENST00000337653.2_Missense_Mutation_p.R323H|CHAT_ENST00000455728.2_Missense_Mutation_p.R205H|CHAT_ENST00000339797.1_Missense_Mutation_p.R205H	p.R241H	NM_001142933.1|NM_001142934.1	NP_001136405.1|NP_001136406.1	P28329	CLAT_HUMAN		GBM - Glioblastoma multiforme(2;0.000585)	8	1191	+		all_neural(218;0.107)	323					A2BDF4|A2BDF5|Q16488|Q9BQ23|Q9BQ35|Q9BQE1	Missense_Mutation	SNP	ENST00000337653.2	37	c.722G>A	CCDS7232.1	.	.	.	.	.	.	.	.	.	.	G	34	5.387473	0.95988	.	.	ENSG00000070748	ENST00000339797;ENST00000351556;ENST00000395559;ENST00000337653;ENST00000395562;ENST00000455728	T;T;T;T;T;T	0.80738	-1.41;-1.41;-1.41;-1.41;-1.41;-1.41	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	D	0.88952	0.6577	M	0.69248	2.105	0.80722	D	1	D;D	0.89917	0.986;1.0	B;D	0.72338	0.37;0.977	D	0.87755	0.2594	10	0.44086	T	0.13	-10.1192	19.6873	0.95984	0.0:0.0:1.0:0.0	.	205;323	F8W8I2;P28329	.;CLAT_HUMAN	H	205;205;205;323;241;205	ENSP00000343486:R205H;ENSP00000345878:R205H;ENSP00000378926:R205H;ENSP00000337103:R323H;ENSP00000378929:R241H;ENSP00000390521:R205H	ENSP00000337103:R323H	R	+	2	0	CHAT	50505694	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.628000	0.83189	2.647000	0.89833	0.579000	0.79373	CGT		0.512	CHAT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047997.1	NM_020549		10	380	0	0	0	0.38729	0	10	380					A	50835688	G	A	50835688	3	1	37	1	0	0	0	0	1	0	0	0	3313	1145	40	1	1038	1	CHAT	10	50835688	Missense_Mutation	SNP	G	TCGA-CH-5772-01A-11D-1576-08		50835688	84699059	42	2005											
SORBS1	10580	broad.mit.edu	37	chr10	97192294	97192294	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagacgaggcccggagagtcAccgctcccttcccagtgcag	9	5	12	15	3	1	2	1	0	0	2	3	4	3	2	4	2	1	2	4	2	1	1			TCGA-CH-5772-01A-11D-1576-08	TCGA-CH-5772-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a94aed7-03d7-463d-bb87-bca2994f297d	87c4609d-4743-435b-8e1c-b5187a750224	g.chr10:97192294A>T	ENST00000361941.3	-	4	238	c.212T>A	c.(211-213)gTg>gAg	p.V71E	SORBS1_ENST00000347291.4_Missense_Mutation_p.V71E|SORBS1_ENST00000353505.5_Missense_Mutation_p.V71E|SORBS1_ENST00000371241.1_Missense_Mutation_p.V39E|SORBS1_ENST00000474353.2_5'UTR|SORBS1_ENST00000277982.5_Missense_Mutation_p.V71E|SORBS1_ENST00000354106.3_Missense_Mutation_p.V71E|SORBS1_ENST00000371239.1_Missense_Mutation_p.V39E|SORBS1_ENST00000371246.2_Missense_Mutation_p.V71E|SORBS1_ENST00000371247.2_Missense_Mutation_p.V71E|SORBS1_ENST00000371245.3_Missense_Mutation_p.V71E|SORBS1_ENST00000371227.4_Missense_Mutation_p.V71E|SORBS1_ENST00000607232.1_Missense_Mutation_p.V39E|SORBS1_ENST00000306402.6_Missense_Mutation_p.V71E|SORBS1_ENST00000393949.1_Missense_Mutation_p.V71E|SORBS1_ENST00000371249.2_Missense_Mutation_p.V39E	NM_001034954.1	NP_001030126			sorbin and SH3 domain containing 1									p.V71E(2)		NS(1)|breast(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(19)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	42		Colorectal(252;0.0429)		Epithelial(162;1.7e-06)|all cancers(201;6.52e-05)		CCGGAGAGTCACCGCTCCCTT	0.517																																						ENST00000371247.2																			2	Substitution - Missense(2)	p.V71E(2)	prostate(2)	NS(1)|breast(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(19)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	42						c.(211-213)gTg>gAg		sorbin and SH3 domain containing 1							90	94	93					10																	97192294		2203	4300	6503	SO:0001583	missense	10580				focal adhesion assembly|glucose transport|insulin receptor signaling pathway|muscle contraction|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of lipid biosynthetic process|stress fiber assembly	centrosome|cytosol|focal adhesion|membrane raft|nucleus|stress fiber|zonula adherens	actin binding|insulin receptor binding|SH3/SH2 adaptor activity	g.chr10:97192294A>T	AF136381	CCDS7442.1, CCDS31252.1, CCDS31253.1, CCDS31254.1, CCDS31255.1, CCDS31256.1, CCDS73169.1	10q23.33	2011-07-25	2002-05-08		ENSG00000095637	ENSG00000095637			14565	protein-coding gene	gene with protein product	"c-Cbl-associated protein"	605264	"SH3-domain protein 5 (ponsin)"	SH3D5		10085297, 11001060	Standard	XM_005269405		Approved	FLJ12406, CAP, sh3p12, ponsin, KIAA1296	uc001kkp.3	Q9BX66	OTTHUMG00000018812	ENST00000361941.3:c.212T>A	10.37:g.97192294A>T	ENSP00000355136:p.Val71Glu					SORBS1_ENST00000371239.1_Missense_Mutation_p.V39E|SORBS1_ENST00000371249.2_Missense_Mutation_p.V39E|SORBS1_ENST00000393949.1_Missense_Mutation_p.V71E|SORBS1_ENST00000371227.4_Missense_Mutation_p.V71E|SORBS1_ENST00000361941.3_Missense_Mutation_p.V71E|SORBS1_ENST00000347291.4_Missense_Mutation_p.V71E|SORBS1_ENST00000474353.2_5'UTR|SORBS1_ENST00000371246.2_Missense_Mutation_p.V71E|SORBS1_ENST00000353505.5_Missense_Mutation_p.V71E|SORBS1_ENST00000371241.1_Missense_Mutation_p.V39E|SORBS1_ENST00000306402.6_Missense_Mutation_p.V71E|SORBS1_ENST00000371245.3_Missense_Mutation_p.V71E|SORBS1_ENST00000354106.3_Missense_Mutation_p.V71E|SORBS1_ENST00000277982.5_Missense_Mutation_p.V71E|SORBS1_ENST00000607232.1_Missense_Mutation_p.V39E	p.V71E			Q9BX66	SRBS1_HUMAN		Epithelial(162;1.7e-06)|all cancers(201;6.52e-05)	6	401	-		Colorectal(252;0.0429)	71						Missense_Mutation	SNP	ENST00000361941.3	37	c.212T>A	CCDS31255.1	.	.	.	.	.	.	.	.	.	.	A	23.4	4.412570	0.83340	.	.	ENSG00000095637	ENST00000371245;ENST00000306402;ENST00000371249;ENST00000371247;ENST00000371227;ENST00000371246;ENST00000393949;ENST00000353505;ENST00000347291;ENST00000361941;ENST00000277982;ENST00000371241;ENST00000354106;ENST00000371239	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.25579	2.44;1.95;2.1;2.15;2.01;2.48;1.94;2.44;1.79;2.15;2.48;1.83;1.94;2.04	5.75	5.75	0.90469	.	0.240780	0.21565	N	0.072503	T	0.40767	0.1130	L	0.32530	0.975	0.24962	N	0.991728	D;P;D;D;D;D;D;D;D;D;D;D	0.89917	0.977;0.856;0.999;1.0;0.999;0.999;0.999;0.999;1.0;1.0;0.999;0.999	P;B;D;D;D;D;D;D;D;D;D;D	0.91635	0.726;0.31;0.998;0.999;0.999;0.999;0.999;0.999;0.998;0.998;0.999;0.999	T	0.29243	-1.0018	10	0.87932	D	0	-9.5781	13.8	0.63194	1.0:0.0:0.0:0.0	.	39;39;39;71;39;71;39;39;71;71;71;71	B7Z9B7;B4DTX5;F2Z2S3;Q9BX66-11;Q9BX66-10;Q9BX66-9;Q9BX66-4;Q9BX66-8;Q9BX66-3;Q9BX66;Q9BX66-2;Q9BX66-6	.;.;.;.;.;.;.;.;.;SRBS1_HUMAN;.;.	E	71;71;39;71;71;71;71;71;71;71;71;39;71;39	ENSP00000360291:V71E;ENSP00000302556:V71E;ENSP00000360295:V39E;ENSP00000360293:V71E;ENSP00000360271:V71E;ENSP00000360292:V71E;ENSP00000377521:V71E;ENSP00000343998:V71E;ENSP00000277985:V71E;ENSP00000355136:V71E;ENSP00000277982:V71E;ENSP00000360285:V39E;ENSP00000277984:V71E;ENSP00000360283:V39E	ENSP00000277982:V71E	V	-	2	0	SORBS1	97182284	1.000000	0.71417	0.987000	0.45799	0.898000	0.52572	5.860000	0.69546	2.185000	0.69588	0.533000	0.62120	GTG		0.517	SORBS1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049517.1			4	128	0	0	0	0.150653	0	4	128					T	97192294	A	T	97192294	3	4	37	1	0	0	0	0	1	0	0	0	14927	159	6	5	3975	5	SORBS1	10	97192294	Missense_Mutation	SNP	A	TCGA-CH-5772-01A-11D-1576-08	46356606	97192294	38342453	43	2006											
COL17A1	1308	broad.mit.edu	37	chr10	105798243	105798243	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ggaggcccagggggcccaggGggccctggcgggcctgacac	5	2	20	14	1	0	1	0	1	0	0	0	2	0	2	4	8	0	0	4	8	0	0			TCGA-CH-5772-01A-11D-1576-08	TCGA-CH-5772-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a94aed7-03d7-463d-bb87-bca2994f297d	87c4609d-4743-435b-8e1c-b5187a750224	g.chr10:105798243G>A	ENST00000353479.5	-	45	3281	c.2991C>T	c.(2989-2991)ccC>ccT	p.P997P	COL17A1_ENST00000369733.3_Silent_p.P952P	NM_000494.3	NP_000485.3	Q9UMD9	COHA1_HUMAN	collagen, type XVII, alpha 1	997	Triple-helical region.				cell junction assembly (GO:0034329)|cell-matrix adhesion (GO:0007160)|collagen catabolic process (GO:0030574)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|hemidesmosome (GO:0030056)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)		p.P997P(1)		NS(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|liver(1)|lung(22)|ovary(5)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	62		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		GGGGCCCAGGGGGCCCTGGCG	0.602																																						ENST00000353479.5																			1	Substitution - coding silent(1)	p.P997P(1)	prostate(1)	NS(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|liver(1)|lung(22)|ovary(5)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	62						c.(2989-2991)ccC>ccT		collagen, type XVII, alpha 1							69	80	76					10																	105798243		2196	4293	6489	SO:0001819	synonymous_variant	1308				cell-matrix adhesion|epidermis development|hemidesmosome assembly	basement membrane|cell-cell junction|collagen|hemidesmosome|integral to plasma membrane	protein binding	g.chr10:105798243G>A	M91669	CCDS7554.1	10q24.3	2013-01-16			ENSG00000065618	ENSG00000065618		"Collagens"	2194	protein-coding gene	gene with protein product		113811		BPAG2		7916703	Standard	NM_000494		Approved	BP180	uc001kxr.3	Q9UMD9	OTTHUMG00000018998	ENST00000353479.5:c.2991C>T	10.37:g.105798243G>A						COL17A1_ENST00000369733.3_Silent_p.P952P	p.P997P	NM_000494.3	NP_000485.3	Q9UMD9	COHA1_HUMAN		Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)	45	3281	-		Colorectal(252;0.103)|Breast(234;0.122)	997			Triple-helical region.		Q02802|Q5JV36|Q99018|Q9NQK9|Q9UC14	Silent	SNP	ENST00000353479.5	37	c.2991C>T	CCDS7554.1																																																																																				0.602	COL17A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050181.1	NM_130778, NM_000494		15	340	0	0	0	0.457914	0	15	340					A	105798243	G	A	105798243	2	1	37	1	0	0	0	0	0	0	0	1	3674	1219	43	3		3	COL17A1	10	105798243	Silent	SNP	G	TCGA-CH-5772-01A-11D-1576-08	8605949	105798243	29736504	44	2007											
SORCS3	22986	broad.mit.edu	37	chr10	106959827	106959827	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	actacaaatctatcttcagcCggcattgcaccaaggaggac	13	8	8	12	1	3	0	1	0	2	0	3	2	3	2	2	3	3	2	2	3	4	4	rs202188584		TCGA-CH-5772-01A-11D-1576-08	TCGA-CH-5772-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a94aed7-03d7-463d-bb87-bca2994f297d	87c4609d-4743-435b-8e1c-b5187a750224	g.chr10:106959827C>T	ENST00000369701.3	+	15	2307	c.2080C>T	c.(2080-2082)Cgg>Tgg	p.R694W	SORCS3_ENST00000369699.4_5'UTR	NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	694					learning (GO:0007612)|memory (GO:0007613)|neuropeptide signaling pathway (GO:0007218)|regulation of long term synaptic depression (GO:1900452)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|neuronal postsynaptic density (GO:0097481)	neuropeptide receptor activity (GO:0008188)	p.R694W(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		TATCTTCAGCCGGCATTGCAC	0.532																																					NSCLC(116;1497 1690 7108 13108 14106)	ENST00000369701.3																			1	Substitution - Missense(1)	p.R694W(1)	prostate(1)	autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131						c.(2080-2082)Cgg>Tgg		sortilin-related VPS10 domain containing receptor 3							130	117	121					10																	106959827		2203	4300	6503	SO:0001583	missense	22986					integral to membrane	neuropeptide receptor activity	g.chr10:106959827C>T	AB028982	CCDS7558.1	10q23-q25	2006-04-12			ENSG00000156395	ENSG00000156395			16699	protein-coding gene	gene with protein product		606285				11499680	Standard	NM_014978		Approved	KIAA1059, SORCS	uc001kyi.1	Q9UPU3	OTTHUMG00000019011	ENST00000369701.3:c.2080C>T	10.37:g.106959827C>T	ENSP00000358715:p.Arg694Trp					SORCS3_ENST00000369699.4_5'UTR	p.R694W	NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)	15	2307	+		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)	694					Q5VXF9|Q9NQJ2	Missense_Mutation	SNP	ENST00000369701.3	37	c.2080C>T	CCDS7558.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.181442	0.78677	.	.	ENSG00000156395	ENST00000369701	T	0.29655	1.56	6.07	4.23	0.50019	VPS10 (1);	0.057204	0.64402	N	0.000002	T	0.58666	0.2138	M	0.91406	3.205	0.49798	D	0.999822	D	0.89917	1.0	D	0.68621	0.959	T	0.63435	-0.6638	9	.	.	.	.	8.3777	0.32453	0.1237:0.759:0.0:0.1173	.	694	Q9UPU3	SORC3_HUMAN	W	694	ENSP00000358715:R694W	.	R	+	1	2	SORCS3	106949817	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.203000	0.32284	0.903000	0.36546	0.650000	0.86243	CGG		0.532	SORCS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050221.1	NM_014978		7	214	0	0	0	0.248553	0	7	214					T	106959827	C	T	106959827	3	4	37	1	0	0	0	0	1	0	0	0	14932	643	23	2	2138	2	SORCS3	10	106959827	Missense_Mutation	SNP	C	TCGA-CH-5772-01A-11D-1576-08	1161584	106959827	28574920	45	2008											
TDRD1	56165	broad.mit.edu	37	chr10	115986961	115986961	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	catacagtgtcagttgagaaAtgttctgagaatgggactgt	12	12	12	5	0	2	2	1	2	1	2	2	5	2	3	0	1	1	2	0	1	3	3	rs374240376		TCGA-CH-5772-01A-11D-1576-08	TCGA-CH-5772-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a94aed7-03d7-463d-bb87-bca2994f297d	87c4609d-4743-435b-8e1c-b5187a750224	g.chr10:115986961A>C	ENST00000251864.2	+	23	3459	c.3306A>C	c.(3304-3306)aaA>aaC	p.K1102N	TDRD1_ENST00000422662.1_Intron|TDRD1_ENST00000369280.1_Intron|TDRD1_ENST00000369282.1_Intron|TDRD1_ENST00000369281.2_Missense_Mutation_p.K988N	NM_198795.1	NP_942090.1	Q9BXT4	TDRD1_HUMAN	tudor domain containing 1	1102					DNA methylation involved in gamete generation (GO:0043046)|gene silencing by RNA (GO:0031047)|germ cell development (GO:0007281)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|piRNA metabolic process (GO:0034587)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|P granule (GO:0043186)|pi-body (GO:0071546)	metal ion binding (GO:0046872)	p.K1102N(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(5)	48		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0343)|all cancers(201;0.0754)		CAGTTGAGAAATGTTCTGAGA	0.343																																						ENST00000251864.2																			1	Substitution - Missense(1)	p.K1102N(1)	prostate(1)	breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(5)	48						c.(3304-3306)aaA>aaC		tudor domain containing 1							140	127	132					10																	115986961		2203	4300	6503	SO:0001583	missense	56165				DNA methylation involved in gamete generation|gene silencing by RNA|germ cell development|meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	pi-body	nucleic acid binding|protein binding|zinc ion binding	g.chr10:115986961A>C	AF285606	CCDS7588.1	10q26.11	2013-01-23			ENSG00000095627	ENSG00000095627		"Tudor domain containing"	11712	protein-coding gene	gene with protein product	"cancer/testis antigen 41.1"	605796				11279525	Standard	NM_198795		Approved	CT41.1	uc001lbg.1	Q9BXT4	OTTHUMG00000019083	ENST00000251864.2:c.3306A>C	10.37:g.115986961A>C	ENSP00000251864:p.Lys1102Asn					TDRD1_ENST00000369282.1_Intron|TDRD1_ENST00000369280.1_Intron|TDRD1_ENST00000369281.2_Missense_Mutation_p.K988N|TDRD1_ENST00000422662.1_Intron	p.K1102N	NM_198795.1	NP_942090.1	Q9BXT4	TDRD1_HUMAN		Epithelial(162;0.0343)|all cancers(201;0.0754)	23	3459	+		Colorectal(252;0.172)|Breast(234;0.188)	1102					A6NEN3|A6NMN2|B3KVI4|B4E2L5|D3DRC2|Q4G0Y8|Q6P518|Q9H7B3	Missense_Mutation	SNP	ENST00000251864.2	37	c.3306A>C	CCDS7588.1	.	.	.	.	.	.	.	.	.	.	A	16.02	3.004884	0.54254	.	.	ENSG00000095627	ENST00000251864;ENST00000369281	T;T	0.19806	2.93;2.12	6.07	-2.87	0.05700	.	0.000000	0.64402	D	0.000002	T	0.36110	0.0955	M	0.66939	2.045	0.50813	D	0.999894	D;D;D;D	0.89917	0.999;0.999;1.0;1.0	D;D;D;D	0.91635	0.994;0.994;0.997;0.999	T	0.17258	-1.0375	10	0.25106	T	0.35	-27.0998	12.2541	0.54615	0.7494:0.0:0.2506:0.0	.	1102;988;1102;988	Q9BXT4;B7WPM2;Q9BXT4-3;Q9BXT4-2	TDRD1_HUMAN;.;.;.	N	1102;988	ENSP00000251864:K1102N;ENSP00000358287:K988N	ENSP00000251864:K1102N	K	+	3	2	TDRD1	115976951	0.000000	0.05858	0.898000	0.35279	0.652000	0.38707	-1.088000	0.03379	-0.313000	0.08728	0.528000	0.53228	AAA		0.343	TDRD1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				72	130	0	0	0	0.870114	0	72	130					C	115986961	A	C	115986961	3	2	37	1	0	0	0	0	1	0	0	0	15727	98	4	5	3392	5	TDRD1	10	115986961	Missense_Mutation	SNP	A	TCGA-CH-5772-01A-11D-1576-08	9027134	115986961	19547786	46	2009											
OR5D18	219438	broad.mit.edu	37	chr11	55587401	55587401	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	catttcatttttaggatgcgTagtacaattctttttcttct	8	21	5	7	1	4	0	1	0	3	0	4	1	4	1	0	1	2	2	0	1	4	10			TCGA-CH-5772-01A-11D-1576-08	TCGA-CH-5772-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a94aed7-03d7-463d-bb87-bca2994f297d	87c4609d-4743-435b-8e1c-b5187a750224	g.chr11:55587401T>C	ENST00000333976.4	+	1	316	c.296T>C	c.(295-297)gTa>gCa	p.V99A		NM_001001952.1	NP_001001952.1	Q8NGL1	OR5DI_HUMAN	olfactory receptor, family 5, subfamily D, member 18	99						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V99A(1)		NS(2)|breast(1)|endometrium(3)|large_intestine(6)|lung(33)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		all_epithelial(135;0.208)				TTAGGATGCGTAGTACAATTC	0.428																																						ENST00000333976.4																			1	Substitution - Missense(1)	p.V99A(1)	prostate(1)	NS(2)|breast(1)|endometrium(3)|large_intestine(6)|lung(33)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						c.(295-297)gTa>gCa		olfactory receptor, family 5, subfamily D, member 18							201	200	201					11																	55587401		2200	4296	6496	SO:0001583	missense	219438				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55587401T>C	AB065781	CCDS31510.1	11q11	2012-08-09			ENSG00000186119	ENSG00000186119		"GPCR / Class A : Olfactory receptors"	15285	protein-coding gene	gene with protein product							Standard	NM_001001952		Approved		uc010rin.2	Q8NGL1	OTTHUMG00000166811	ENST00000333976.4:c.296T>C	11.37:g.55587401T>C	ENSP00000335025:p.Val99Ala						p.V99A	NM_001001952.1	NP_001001952.1	Q8NGL1	OR5DI_HUMAN			1	316	+		all_epithelial(135;0.208)	99					Q6IF67|Q6IFD3|Q96RB3	Missense_Mutation	SNP	ENST00000333976.4	37	c.296T>C	CCDS31510.1	.	.	.	.	.	.	.	.	.	.	.	4.291	0.053304	0.08291	.	.	ENSG00000186119	ENST00000333976	T	0.00421	7.46	4.94	4.94	0.65067	GPCR, rhodopsin-like superfamily (1);	1.113020	0.07001	N	0.823279	T	0.00178	0.0005	N	0.02158	-0.66	0.09310	N	1	B	0.09022	0.002	B	0.11329	0.006	T	0.21042	-1.0257	10	0.02654	T	1	-1.4866	13.8707	0.63617	0.0:0.0:0.0:1.0	.	99	Q8NGL1	OR5DI_HUMAN	A	99	ENSP00000335025:V99A	ENSP00000335025:V99A	V	+	2	0	OR5D18	55343977	0.033000	0.19621	0.002000	0.10522	0.025000	0.11179	2.067000	0.41461	2.031000	0.59945	0.514000	0.50259	GTA		0.428	OR5D18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391515.1	NM_001001952		9	502	0	0	0	0.335167	0	9	502					C	55587401	T	C	55587401	3	2	37	1	0	0	0	0	1	0	0	0	11157	1638	57	4	298	4	OR5D18	11	55587401	Missense_Mutation	SNP	T	TCGA-CH-5772-01A-11D-1576-08		55587401	79419115	47	2010											
OR4D6	219983	broad.mit.edu	37	chr11	59225135	59225135	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cactctggggaggggcggaaCaaggccctctccacgtgcac	8	5	14	14	2	2	0	0	0	2	0	3	2	2	2	2	6	2	1	2	6	2	0			TCGA-CH-5772-01A-11D-1576-08	TCGA-CH-5772-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a94aed7-03d7-463d-bb87-bca2994f297d	87c4609d-4743-435b-8e1c-b5187a750224	g.chr11:59225135C>G	ENST00000300127.2	+	1	725	c.702C>G	c.(700-702)aaC>aaG	p.N234K		NM_001004708.1	NP_001004708.1	Q8NGJ1	OR4D6_HUMAN	olfactory receptor, family 4, subfamily D, member 6	234						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.N234K(1)		breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	34						AGGGGCGGAACAAGGCCCTCT	0.587																																						ENST00000300127.2																			1	Substitution - Missense(1)	p.N234K(1)	prostate(1)	breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	34						c.(700-702)aaC>aaG		olfactory receptor, family 4, subfamily D, member 6							122	108	112					11																	59225135		2201	4295	6496	SO:0001583	missense	219983				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:59225135C>G	AB065803	CCDS31562.1	11q12.1	2012-08-09			ENSG00000166884	ENSG00000166884		"GPCR / Class A : Olfactory receptors"	15175	protein-coding gene	gene with protein product							Standard	NM_001004708		Approved		uc010rku.2	Q8NGJ1	OTTHUMG00000167340	ENST00000300127.2:c.702C>G	11.37:g.59225135C>G	ENSP00000300127:p.Asn234Lys						p.N234K	NM_001004708.1	NP_001004708.1	Q8NGJ1	OR4D6_HUMAN			1	725	+			234					B2RNP7|Q6IFF5|Q96R74	Missense_Mutation	SNP	ENST00000300127.2	37	c.702C>G	CCDS31562.1	.	.	.	.	.	.	.	.	.	.	C	4.083	0.013371	0.07912	.	.	ENSG00000166884	ENST00000300127	T	0.00048	8.82	6.01	-3.83	0.04269	GPCR, rhodopsin-like superfamily (1);	0.732683	0.12575	N	0.456930	T	0.00039	0.0001	N	0.01464	-0.85	0.22266	N	0.999244	B	0.02656	0.0	B	0.04013	0.001	T	0.18023	-1.0350	10	0.54805	T	0.06	-0.9314	3.3338	0.07093	0.3732:0.1654:0.3419:0.1195	.	234	Q8NGJ1	OR4D6_HUMAN	K	234	ENSP00000300127:N234K	ENSP00000300127:N234K	N	+	3	2	OR4D6	58981711	0.000000	0.05858	0.000000	0.03702	0.034000	0.12701	-2.698000	0.00826	-1.149000	0.02843	-0.140000	0.14226	AAC		0.587	OR4D6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394234.1	NM_001004708		4	149	0	0	0	0.150653	0	4	149					G	59225135	C	G	59225135	3	3	37	1	0	0	0	0	1	0	0	0	11058	477	17	5	704	5	OR4D6	11	59225135	Missense_Mutation	SNP	C	TCGA-CH-5772-01A-11D-1576-08	3637734	59225135	75781381	48	2011											
TIGD3	220359	broad.mit.edu	37	chr11	65123520	65123520	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	ccaagtacagcgggatcgacGaggctctgctctgctggtac	8	8	13	12	3	2	0	0	0	2	0	3	3	2	1	1	3	5	5	1	3	3	2			TCGA-CH-5772-01A-11D-1576-08	TCGA-CH-5772-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a94aed7-03d7-463d-bb87-bca2994f297d	87c4609d-4743-435b-8e1c-b5187a750224	g.chr11:65123520G>C	ENST00000309880.5	+	2	448	c.241G>C	c.(241-243)Gag>Cag	p.E81Q		NM_145719.2	NP_663771.1	Q6B0B8	TIGD3_HUMAN	tigger transposable element derived 3	81	HTH CENPB-type. {ECO:0000255|PROSITE- ProRule:PRU00583}.					nucleus (GO:0005634)	DNA binding (GO:0003677)	p.E81Q(1)		endometrium(3)|large_intestine(1)|lung(9)|prostate(2)|skin(2)	17						CGGGATCGACGAGGCTCTGCT	0.627																																						ENST00000309880.5																			1	Substitution - Missense(1)	p.E81Q(1)	prostate(1)	endometrium(3)|large_intestine(1)|lung(9)|prostate(2)|skin(2)	17						c.(241-243)Gag>Cag		tigger transposable element derived 3							75	84	81					11																	65123520		2201	4297	6498	SO:0001583	missense	220359				regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	DNA binding	g.chr11:65123520G>C		CCDS8101.1	11q13.1	2008-07-21				ENSG00000173825			18334	protein-coding gene	gene with protein product							Standard	NM_145719		Approved		uc001odo.4	Q6B0B8		ENST00000309880.5:c.241G>C	11.37:g.65123520G>C	ENSP00000308354:p.Glu81Gln						p.E81Q	NM_145719.2	NP_663771.1	Q6B0B8	TIGD3_HUMAN			2	448	+			81			HTH CENPB-type.			Missense_Mutation	SNP	ENST00000309880.5	37	c.241G>C	CCDS8101.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.165632	0.78339	.	.	ENSG00000173825	ENST00000309880	T	0.15603	2.41	4.48	4.48	0.54585	Homeodomain-related (1);Pogo transposase / Cenp-B / PDC2, DNA-binding HTH domain (3);Homeodomain-like (1);	0.000000	0.34777	N	0.003693	T	0.31040	0.0784	L	0.43598	1.365	0.36307	D	0.857428	D	0.76494	0.999	D	0.83275	0.996	T	0.10636	-1.0621	10	0.25106	T	0.35	-24.7315	13.4248	0.61020	0.0:0.0:1.0:0.0	.	81	Q6B0B8	TIGD3_HUMAN	Q	81	ENSP00000308354:E81Q	ENSP00000308354:E81Q	E	+	1	0	TIGD3	64880096	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	4.010000	0.57117	2.453000	0.82957	0.456000	0.33151	GAG		0.627	TIGD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387310.1	NM_145719		9	172	0	0	0	0.307466	0	9	172					C	65123520	G	C	65123520	3	2	37	1	0	0	0	0	1	0	0	0	15894	1059	37	5	243	5	TIGD3	11	65123520	Missense_Mutation	SNP	G	TCGA-CH-5772-01A-11D-1576-08	5898385	65123520	69882996	49	2012											
SPTBN2	6712	broad.mit.edu	37	chr11	66469126	66469126	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttggccttcagtaactgctcGgcaatgtcattcaccgcggt	7	12	10	12	3	3	0	3	0	0	0	4	0	3	0	2	3	2	3	2	3	2	4	rs144636685	byFrequency	TCGA-CH-5772-01A-11D-1576-08	TCGA-CH-5772-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a94aed7-03d7-463d-bb87-bca2994f297d	87c4609d-4743-435b-8e1c-b5187a750224	g.chr11:66469126G>A	ENST00000533211.1	-	16	3076	c.2745C>T	c.(2743-2745)gcC>gcT	p.A915A	SPTBN2_ENST00000529997.1_Silent_p.A915A|SPTBN2_ENST00000309996.2_Silent_p.A915A			O15020	SPTN2_HUMAN	spectrin, beta, non-erythrocytic 2	915					actin filament capping (GO:0051693)|adult behavior (GO:0030534)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon guidance (GO:0007411)|cell death (GO:0008219)|cerebellar Purkinje cell layer morphogenesis (GO:0021692)|multicellular organism growth (GO:0035264)|synapse assembly (GO:0007416)|vesicle-mediated transport (GO:0016192)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular space (GO:0005615)|neuronal cell body (GO:0043025)|spectrin (GO:0008091)	actin binding (GO:0003779)|phospholipid binding (GO:0005543)|structural constituent of cytoskeleton (GO:0005200)	p.A915A(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	74						GTAACTGCTCGGCAATGTCAT	0.572																																						ENST00000533211.1																			1	Substitution - coding silent(1)	p.A915A(1)	prostate(1)	autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	74						c.(2743-2745)gcC>gcT		spectrin, beta, non-erythrocytic 2		G		0,4400		0,0,2200	188	173	178		2745	-11.1	0.1	11	dbSNP_134	178	1,8589	1.2+/-3.3	0,1,4294	no	coding-synonymous	SPTBN2	NM_006946.2		0,1,6494	AA,AG,GG		0.0116,0.0,0.0077		915/2391	66469126	1,12989	2200	4295	6495	SO:0001819	synonymous_variant	6712				actin filament capping|axon guidance|cell death|vesicle-mediated transport	cytosol|spectrin	actin binding|structural constituent of cytoskeleton	g.chr11:66469126G>A	AB008567, AF026487, AF026488, AF079569	CCDS8150.1	11q13.2	2013-01-10			ENSG00000173898	ENSG00000173898		"Pleckstrin homology (PH) domain containing"	11276	protein-coding gene	gene with protein product		604985	"spinocerebellar ataxia 5"	SCA5		9826670, 16429157	Standard	NM_006946		Approved		uc001ojd.3	O15020	OTTHUMG00000167262	ENST00000533211.1:c.2745C>T	11.37:g.66469126G>A						SPTBN2_ENST00000309996.2_Silent_p.A915A|SPTBN2_ENST00000529997.1_Silent_p.A915A	p.A915A			O15020	SPTN2_HUMAN			16	3076	-			915					O14872|O14873	Silent	SNP	ENST00000533211.1	37	c.2745C>T	CCDS8150.1																																																																																				0.572	SPTBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393892.2	NM_006946		7	260	0	0	0	0.248553	0	7	260					A	66469126	G	A	66469126	2	1	37	1	0	0	0	0	0	0	0	1	15119	1103	39	2		2	SPTBN2	11	66469126	Silent	SNP	G	TCGA-CH-5772-01A-11D-1576-08	1345606	66469126	68537390	50	2013											
FAT3	120114	broad.mit.edu	37	chr11	92088335	92088335	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaagacaaagggcggcctgtCtctctgtcatctgtttcctt	8	13	9	11	1	4	1	1	0	3	1	6	1	5	1	2	2	0	1	2	2	2	2			TCGA-CH-5772-01A-11D-1576-08	TCGA-CH-5772-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a94aed7-03d7-463d-bb87-bca2994f297d	87c4609d-4743-435b-8e1c-b5187a750224	g.chr11:92088335C>A	ENST00000298047.6	+	1	3074	c.3057C>A	c.(3055-3057)gtC>gtA	p.V1019V	FAT3_ENST00000541502.1_Silent_p.V1019V|FAT3_ENST00000409404.2_Silent_p.V1019V|FAT3_ENST00000525166.1_Silent_p.V869V			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	1019	Cadherin 9. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.V1019V(2)		NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				GGCGGCCTGTCTCTCTGTCAT	0.463										TCGA Ovarian(4;0.039)																												ENST00000298047.6																			2	Substitution - coding silent(2)	p.V1019V(2)	prostate(2)	NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85						c.(3055-3057)gtC>gtA		FAT atypical cadherin 3							95	95	95					11																	92088335		1951	4150	6101	SO:0001819	synonymous_variant	120114				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr11:92088335C>A	AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"Cadherins / Cadherin-related"	23112	protein-coding gene	gene with protein product	"cadherin-related family member 10"	612483	"FAT tumor suppressor homolog 3 (Drosophila)"			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.3057C>A	11.37:g.92088335C>A		TCGA Ovarian(4;0.039)				FAT3_ENST00000409404.2_Silent_p.V1019V|FAT3_ENST00000541502.1_Silent_p.V1019V|FAT3_ENST00000525166.1_Silent_p.V869V	p.V1019V			Q8TDW7	FAT3_HUMAN			1	3074	+		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)	1019			Cadherin 9.		B5MDB0|Q96AU6	Silent	SNP	ENST00000298047.6	37	c.3057C>A																																																																																					0.463	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781		4	82	1	0	0.00909568	0.150653	0.0095054	4	82					A	92088335	C	A	92088335	2	1	37	1	0	0	0	0	0	0	0	1	5691	900	32	5		5	FAT3	11	92088335	Silent	SNP	C	TCGA-CH-5772-01A-11D-1576-08	25619209	92088335	42918181	51	2014											
CASP1	834	broad.mit.edu	37	chr11	104899864	104899864	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgttacctggtgtggaagaGcagaaagcgataaaatcctt	13	10	11	7	1	0	2	0	0	0	2	1	4	1	3	2	2	3	2	2	2	5	3			TCGA-CH-5772-01A-11D-1576-08	TCGA-CH-5772-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a94aed7-03d7-463d-bb87-bca2994f297d	87c4609d-4743-435b-8e1c-b5187a750224	g.chr11:104899864G>C	ENST00000533400.1	-	7	1028	c.993C>G	c.(991-993)tgC>tgG	p.C331W	CASP1_ENST00000526568.1_Missense_Mutation_p.C238W|CASP1_ENST00000598974.1_Missense_Mutation_p.C331W|CASP1_ENST00000353247.5_Intron|CASP1_ENST00000593315.1_Missense_Mutation_p.C310W|CASP1_ENST00000393136.4_Missense_Mutation_p.C310W|CASP1_ENST00000534497.1_Intron|CASP1_ENST00000527979.1_Missense_Mutation_p.C294W|CASP1_ENST00000436863.3_Missense_Mutation_p.C331W|CASP1_ENST00000446369.1_Intron|CASP1_ENST00000531166.1_Intron|CASP1_ENST00000525825.1_Missense_Mutation_p.C310W|CASP1_ENST00000528974.1_Missense_Mutation_p.C292W|CASP1_ENST00000594519.1_Intron|CASP1_ENST00000415981.2_Intron	NM_001257118.1	NP_001244047.1	P29466	CASP1_HUMAN	caspase 1, apoptosis-related cysteine peptidase	331					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|cellular response to mechanical stimulus (GO:0071260)|cellular response to organic substance (GO:0071310)|execution phase of apoptosis (GO:0097194)|innate immune response (GO:0045087)|interleukin-1 beta production (GO:0032611)|membrane hyperpolarization (GO:0060081)|mitochondrial depolarization (GO:0051882)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-1 alpha secretion (GO:0050717)|positive regulation of interleukin-1 beta secretion (GO:0050718)|programmed necrotic cell death (GO:0097300)|proteolysis (GO:0006508)|pyroptosis (GO:0070269)|regulation of inflammatory response (GO:0050727)|response to ATP (GO:0033198)|response to hypoxia (GO:0001666)|response to lipopolysaccharide (GO:0032496)|signal transduction (GO:0007165)	AIM2 inflammasome complex (GO:0097169)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|IPAF inflammasome complex (GO:0072557)|NLRP1 inflammasome complex (GO:0072558)|NLRP3 inflammasome complex (GO:0072559)	cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|cysteine-type endopeptidase activity (GO:0004197)|endopeptidase activity (GO:0004175)	p.C331W(1)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)	5		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)		BRCA - Breast invasive adenocarcinoma(274;0.000525)|Epithelial(105;0.0128)|all cancers(92;0.0482)	Minocycline(DB01017)	GTGTGGAAGAGCAGAAAGCGA	0.408																																					NSCLC(41;1246 1743 4934)	ENST00000533400.1																			1	Substitution - Missense(1)	p.C331W(1)	prostate(1)	haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)	5						c.(991-993)tgC>tgG		caspase 1, apoptosis-related cysteine peptidase	Minocycline(DB01017)|Penicillamine(DB00859)						117	109	112					11																	104899864		2202	4299	6501	SO:0001583	missense	834				cellular response to mechanical stimulus|cellular response to organic substance|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis|signal transduction	cytosol	caspase activator activity|cysteine-type endopeptidase activity|protein binding	g.chr11:104899864G>C	U13697	CCDS8329.1, CCDS8330.1, CCDS8331.1, CCDS8332.1, CCDS53704.1	11q23	2012-02-29	2012-02-29		ENSG00000137752	ENSG00000137752		"Caspases"	1499	protein-coding gene	gene with protein product	"caspase-1", "interleukin 1, beta, convertase"	147678	"caspase 1, apoptosis-related cysteine protease (interleukin 1, beta, convertase)", "caspase 1, apoptosis-related cysteine peptidase (interleukin 1, beta, convertase)"	IL1BC		1373520, 9250871	Standard	NM_033292		Approved	ICE	uc001pim.5	P29466	OTTHUMG00000048072	ENST00000533400.1:c.993C>G	11.37:g.104899864G>C	ENSP00000433138:p.Cys331Trp					CASP1_ENST00000415981.2_Intron|CASP1_ENST00000525825.1_Missense_Mutation_p.C310W|CASP1_ENST00000598974.1_Missense_Mutation_p.C331W|CASP1_ENST00000594519.1_Intron|CASP1_ENST00000593315.1_Missense_Mutation_p.C310W|CASP1_ENST00000534497.1_Intron|CASP1_ENST00000528974.1_Missense_Mutation_p.C292W|CASP1_ENST00000436863.3_Missense_Mutation_p.C331W|CASP1_ENST00000531166.1_Intron|CASP1_ENST00000526568.1_Missense_Mutation_p.C238W|CASP1_ENST00000393136.4_Missense_Mutation_p.C310W|CASP1_ENST00000446369.1_Intron|CASP1_ENST00000353247.5_Intron|CASP1_ENST00000527979.1_Missense_Mutation_p.C294W	p.C331W	NM_001257118.1	NP_001244047.1	P29466	CASP1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.000525)|Epithelial(105;0.0128)|all cancers(92;0.0482)	7	1028	-		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)	331					B5MDZ1|Q53EY6|Q6DMQ1|Q6GSS3|Q6PI75|Q9UCN3	Missense_Mutation	SNP	ENST00000533400.1	37	c.993C>G	CCDS8330.1	.	.	.	.	.	.	.	.	.	.	.	12.81	2.048170	0.36181	.	.	ENSG00000137752	ENST00000532439;ENST00000526568;ENST00000527979;ENST00000533400;ENST00000436863;ENST00000393136;ENST00000525825;ENST00000528974	T;T;T;T;T;T;T;T	0.22539	1.95;1.95;1.95;1.95;1.95;1.95;1.95;1.95	4.34	1.32	0.21799	Peptidase C14, caspase catalytic (1);Peptidase C14, caspase non-catalytic subunit p10 (1);Peptidase C14, caspase precursor p45, core (1);	0.317456	0.35677	N	0.003052	T	0.35278	0.0926	M	0.64404	1.975	0.45979	D	0.998798	D;D;D;D;D;D	0.89917	1.0;1.0;0.997;0.999;0.997;1.0	D;D;D;D;D;D	0.78314	0.991;0.985;0.974;0.985;0.974;0.983	T	0.05683	-1.0870	10	0.51188	T	0.08	.	5.7343	0.18057	0.4611:0.0:0.5389:0.0	.	292;331;310;331;294;238	B4DVD8;A8K249;P29466-2;P29466;G3V169;P29466-3	.;.;.;CASP1_HUMAN;.;.	W	180;238;294;331;331;310;310;292	ENSP00000435536:C180W;ENSP00000434250:C238W;ENSP00000432340:C294W;ENSP00000433138:C331W;ENSP00000410076:C331W;ENSP00000376844:C310W;ENSP00000434779:C310W;ENSP00000434259:C292W	ENSP00000376844:C310W	C	-	3	2	CASP1	104405074	0.827000	0.29292	1.000000	0.80357	0.729000	0.41735	-0.216000	0.09266	0.520000	0.28426	0.557000	0.71058	TGC		0.408	CASP1-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388116.1	NM_033292		13	106	0	0	0	0.457914	0	13	106					C	104899864	G	C	104899864	3	2	37	1	0	0	0	0	1	0	0	0	2668	963	34	5	233	5	CASP1	11	104899864	Missense_Mutation	SNP	G	TCGA-CH-5772-01A-11D-1576-08	12811529	104899864	30106652	52	2015											
BACE1	23621	broad.mit.edu	37	chr11	117186309	117186309	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agccctgccccgacttgcccCtcaggttgtccaccatctcc	5	9	7	20	1	2	0	1	0	1	0	4	1	3	0	8	1	3	1	8	1	0	2			TCGA-CH-5772-01A-11D-1576-08	TCGA-CH-5772-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a94aed7-03d7-463d-bb87-bca2994f297d	87c4609d-4743-435b-8e1c-b5187a750224	g.chr11:117186309C>G	ENST00000313005.6	-	1	663	c.203G>C	c.(202-204)aGg>aCg	p.R68T	AP000892.4_ENST00000504906.1_RNA|BACE1_ENST00000428381.2_Missense_Mutation_p.R68T|BACE1_ENST00000514464.1_5'UTR|BACE1_ENST00000528053.1_Missense_Mutation_p.R68T|BACE1_ENST00000513780.1_Missense_Mutation_p.R68T|BACE1_ENST00000445823.2_Missense_Mutation_p.R68T	NM_012104.4|NM_138971.3|NM_138972.3|NM_138973.3	NP_036236|NP_620427.1|NP_620428.1|NP_620429.1	P56817	BACE1_HUMAN	beta-site APP-cleaving enzyme 1	68					beta-amyloid metabolic process (GO:0050435)|membrane protein ectodomain proteolysis (GO:0006509)|proteolysis (GO:0006508)	axon (GO:0030424)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|multivesicular body (GO:0005771)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	aspartic-type endopeptidase activity (GO:0004190)|beta-amyloid binding (GO:0001540)|beta-aspartyl-peptidase activity (GO:0008798)|enzyme binding (GO:0019899)	p.R68T(1)		breast(2)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|prostate(1)	19	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.69e-05)|Epithelial(105;0.000563)|all cancers(92;0.0032)		CGACTTGCCCCTCAGGTTGTC	0.711																																						ENST00000313005.6																			1	Substitution - Missense(1)	p.R68T(1)	prostate(1)	breast(2)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|prostate(1)	19						c.(202-204)aGg>aCg		beta-site APP-cleaving enzyme 1							49	47	48					11																	117186309		2201	4296	6497	SO:0001583	missense	23621				beta-amyloid metabolic process|membrane protein ectodomain proteolysis	cell surface|cytoplasmic vesicle membrane|endoplasmic reticulum|endosome|integral to plasma membrane|trans-Golgi network	aspartic-type endopeptidase activity|beta-aspartyl-peptidase activity|protein binding	g.chr11:117186309C>G	AF190725	CCDS8383.1, CCDS44739.1, CCDS44740.1, CCDS44741.1, CCDS55787.1, CCDS55786.1	11q23-q24	2011-07-27	2004-04-02	2004-04-02	ENSG00000186318	ENSG00000186318			933	protein-coding gene	gene with protein product		604252	"beta-site APP-cleaving enzyme"	BACE		10531052	Standard	NM_012104		Approved		uc001pqz.3	P56817	OTTHUMG00000160636	ENST00000313005.6:c.203G>C	11.37:g.117186309C>G	ENSP00000318585:p.Arg68Thr					BACE1_ENST00000528053.1_Missense_Mutation_p.R68T|BACE1_ENST00000514464.1_5'UTR|BACE1_ENST00000513780.1_Missense_Mutation_p.R68T|BACE1_ENST00000445823.2_Missense_Mutation_p.R68T|BACE1_ENST00000428381.2_Missense_Mutation_p.R68T	p.R68T	NM_012104.4|NM_138971.3|NM_138972.3|NM_138973.3	NP_036236.1|NP_620427.1|NP_620428.1|NP_620429.1	P56817	BACE1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.69e-05)|Epithelial(105;0.000563)|all cancers(92;0.0032)	1	663	-	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)	68					A0M8W7|B0YIU9|E9PE65|H7BXJ9|Q9BYB9|Q9BYC0|Q9BYC1|Q9UJT5|Q9ULS1	Missense_Mutation	SNP	ENST00000313005.6	37	c.203G>C	CCDS8383.1	.	.	.	.	.	.	.	.	.	.	C	28.2	4.902539	0.92035	.	.	ENSG00000186318	ENST00000313005;ENST00000528053;ENST00000428381;ENST00000513780;ENST00000445823	T;T;T;T;T	0.42131	0.98;0.98;0.98;0.98;0.98	4.99	4.99	0.66335	Peptidase aspartic (1);	0.000000	0.85682	D	0.000000	T	0.56572	0.1994	L	0.55481	1.735	0.80722	D	1	D;B;B;B;D	0.71674	0.993;0.301;0.104;0.335;0.998	D;B;B;B;D	0.72338	0.977;0.137;0.171;0.259;0.943	T	0.49542	-0.8929	10	0.15499	T	0.54	.	15.7488	0.77967	0.0:1.0:0.0:0.0	.	68;68;68;68;68	Q76KP0;P56817;P56817-3;P56817-4;P56817-2	.;BACE1_HUMAN;.;.;.	T	68	ENSP00000318585:R68T;ENSP00000431848:R68T;ENSP00000402228:R68T;ENSP00000424536:R68T;ENSP00000403685:R68T	ENSP00000318585:R68T	R	-	2	0	BACE1	116691519	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.118000	0.57884	2.302000	0.77476	0.655000	0.94253	AGG		0.711	BACE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361505.1			12	31	0	0	0	0.479597	0	12	31					G	117186309	C	G	117186309	3	3	37	1	0	0	0	0	1	0	0	0	1281	681	24	5	1338	5	BACE1	11	117186309	Missense_Mutation	SNP	C	TCGA-CH-5772-01A-11D-1576-08	12286445	117186309	17820207	53	2016											
ARHGAP32	9743	broad.mit.edu	37	chr11	128844094	128844094	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcctctttccctggcaattCtacttcttcagcagccacct	7	14	4	16	0	4	0	1	0	3	0	6	0	6	0	4	1	3	2	4	1	2	5			TCGA-CH-5772-01A-11D-1576-08	TCGA-CH-5772-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a94aed7-03d7-463d-bb87-bca2994f297d	87c4609d-4743-435b-8e1c-b5187a750224	g.chr11:128844094C>A	ENST00000310343.9	-	20	2955	c.2956G>T	c.(2956-2958)Gaa>Taa	p.E986*	ARHGAP32_ENST00000392657.3_Nonsense_Mutation_p.E637*|ARHGAP32_ENST00000527272.1_Nonsense_Mutation_p.E637*|ARHGAP32_ENST00000524655.1_Nonsense_Mutation_p.E912*	NM_001142685.1	NP_001136157.1	A7KAX9	RHG32_HUMAN	Rho GTPase activating protein 32	986					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cell projection (GO:0042995)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|postsynaptic membrane (GO:0045211)	GTPase activator activity (GO:0005096)|phosphatidylinositol binding (GO:0035091)	p.E637*(2)|p.E986*(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(28)|ovary(3)|prostate(6)|urinary_tract(3)	60						CCTGGCAATTCTACTTCTTCA	0.478																																						ENST00000310343.9																			3	Substitution - Nonsense(3)	p.E637*(2)|p.E986*(1)	prostate(3)	breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(28)|ovary(3)|prostate(6)|urinary_tract(3)	60						c.(2956-2958)Gaa>Taa		Rho GTPase activating protein 32							133	139	137					11																	128844094		2201	4297	6498	SO:0001587	stop_gained	9743				cell communication|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell cortex|cell junction|cytosol|dendritic spine|endoplasmic reticulum membrane|endosome membrane|Golgi membrane|postsynaptic density|postsynaptic membrane	GTPase activator activity|phosphatidylinositol binding	g.chr11:128844094C>A	AB018255	CCDS31718.1, CCDS44769.1	11q24.3	2011-06-29			ENSG00000134909	ENSG00000134909		"Rho GTPase activating proteins"	17399	protein-coding gene	gene with protein product		608541				12446789, 12819203, 17663722	Standard	NM_014715		Approved	GRIT, KIAA0712, MGC1892, RICS, GC-GAP	uc009zcp.3	A7KAX9	OTTHUMG00000165774	ENST00000310343.9:c.2956G>T	11.37:g.128844094C>A	ENSP00000310561:p.Glu986*					ARHGAP32_ENST00000392657.3_Nonsense_Mutation_p.E637*|ARHGAP32_ENST00000524655.1_Nonsense_Mutation_p.E912*|ARHGAP32_ENST00000527272.1_Nonsense_Mutation_p.E637*	p.E986*	NM_001142685.1	NP_001136157.1	A7KAX9	RHG32_HUMAN			20	2955	-			986					I7H0B0|O94820|Q86YL6|Q8IUG4|Q9BWG3	Nonsense_Mutation	SNP	ENST00000310343.9	37	c.2956G>T	CCDS44769.1	.	.	.	.	.	.	.	.	.	.	C	37	6.327031	0.97476	.	.	ENSG00000134909	ENST00000310343;ENST00000392657;ENST00000524655;ENST00000457677;ENST00000527272	.	.	.	5.41	5.41	0.78517	.	0.645662	0.15987	N	0.235039	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.42905	T	0.14	.	17.7411	0.88407	0.0:1.0:0.0:0.0	.	.	.	.	X	986;637;912;920;637	.	ENSP00000310561:E986X	E	-	1	0	ARHGAP32	128349304	0.959000	0.32827	0.014000	0.15608	0.892000	0.51952	4.892000	0.63193	2.696000	0.92011	0.655000	0.94253	GAA		0.478	ARHGAP32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386151.3	NM_014715		6	215	1	0	1.06961e-07	0.27861	1.20461e-07	6	215					A	128844094	C	A	128844094	4	1	37	1	0	0	0	0	0	1	0	0	881	922	32	5	3319	5	ARHGAP32	11	128844094	Nonsense_Mutation	SNP	C	TCGA-CH-5772-01A-11D-1576-08	11657785	128844094	6162422	54	2017											
SPATA19	219938	broad.mit.edu	37	chr11	133712384	133712384	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttccaaacagcttaccttcGtctcacctgctctattcgat	8	14	5	14	2	2	0	1	0	2	0	6	1	3	0	3	0	4	3	3	0	3	5			TCGA-CH-5772-01A-11D-1576-08	TCGA-CH-5772-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a94aed7-03d7-463d-bb87-bca2994f297d	87c4609d-4743-435b-8e1c-b5187a750224	g.chr11:133712384G>A	ENST00000299140.3	-	5	487	c.433C>T	c.(433-435)Cga>Tga	p.R145*	SPATA19_ENST00000532889.1_Nonsense_Mutation_p.R145*	NM_174927.1	NP_777587.1	Q7Z5L4	SPT19_HUMAN	spermatogenesis associated 19	145					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	mitochondrial outer membrane (GO:0005741)		p.R145*(1)		cervix(1)|endometrium(2)|large_intestine(2)|lung(5)|prostate(1)	11	all_hematologic(175;0.127)	all_cancers(12;5.59e-17)|all_epithelial(12;2.65e-12)|all_lung(97;0.00045)|Lung NSC(97;0.000861)|Breast(109;0.000873)|Medulloblastoma(222;0.0425)|Esophageal squamous(93;0.0844)|all_neural(223;0.117)		Epithelial(10;4.36e-10)|all cancers(11;7.1e-09)|BRCA - Breast invasive adenocarcinoma(10;8.45e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.00286)|Lung(977;0.207)		GCTTACCTTCGTCTCACCTGC	0.527																																						ENST00000299140.3																			1	Substitution - Nonsense(1)	p.R145*(1)	prostate(1)	cervix(1)|endometrium(2)|large_intestine(2)|lung(5)|prostate(1)	11						c.(433-435)Cga>Tga		spermatogenesis associated 19							278	210	233					11																	133712384		2201	4297	6498	SO:0001587	stop_gained	219938				cell differentiation|multicellular organismal development|spermatogenesis	mitochondrial outer membrane		g.chr11:133712384G>A	AK098717	CCDS8493.1	11q25	2010-04-23				ENSG00000166118			30614	protein-coding gene	gene with protein product	"spergen 1", "cancer/testis antigen 132"	609805				12477932	Standard	XM_005271448		Approved	FLJ25851, spergen1, SPAS1, CT132	uc001qgv.1	Q7Z5L4		ENST00000299140.3:c.433C>T	11.37:g.133712384G>A	ENSP00000299140:p.Arg145*					SPATA19_ENST00000532889.1_Nonsense_Mutation_p.R145*	p.R145*	NM_174927.1	NP_777587.1	Q7Z5L4	SPT19_HUMAN		Epithelial(10;4.36e-10)|all cancers(11;7.1e-09)|BRCA - Breast invasive adenocarcinoma(10;8.45e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.00286)|Lung(977;0.207)	5	487	-	all_hematologic(175;0.127)	all_cancers(12;5.59e-17)|all_epithelial(12;2.65e-12)|all_lung(97;0.00045)|Lung NSC(97;0.000861)|Breast(109;0.000873)|Medulloblastoma(222;0.0425)|Esophageal squamous(93;0.0844)|all_neural(223;0.117)	145					Q8N7A9	Nonsense_Mutation	SNP	ENST00000299140.3	37	c.433C>T	CCDS8493.1	.	.	.	.	.	.	.	.	.	.	G	34	5.373930	0.95923	.	.	ENSG00000166118	ENST00000299140;ENST00000532889	.	.	.	5.66	3.58	0.41010	.	0.000000	0.49916	D	0.000138	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.4509	0.55677	0.0:0.0:0.6325:0.3675	.	.	.	.	X	145	.	ENSP00000299140:R145X	R	-	1	2	SPATA19	133217594	0.998000	0.40836	0.991000	0.47740	0.962000	0.63368	1.581000	0.36558	1.375000	0.46248	-0.521000	0.04368	CGA		0.527	SPATA19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393281.1	NM_174927		8	198	0	0	0	0.307466	0	8	198					A	133712384	G	A	133712384	4	1	37	1	0	0	0	0	0	1	0	0	15003	1153	40	1	78	1	SPATA19	11	133712384	Nonsense_Mutation	SNP	G	TCGA-CH-5772-01A-11D-1576-08	4868290	133712384	1294132	55	2018											
FKBP4	2288	broad.mit.edu	37	chr12	2910444	2910444	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagctggctgtgtgccagcaGcggatccgaaggcagcttgc	7	7	15	12	2	0	0	0	0	0	0	1	2	1	1	2	3	6	5	2	3	1	1			TCGA-CH-5772-01A-11D-1576-08	TCGA-CH-5772-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a94aed7-03d7-463d-bb87-bca2994f297d	87c4609d-4743-435b-8e1c-b5187a750224	g.chr12:2910444G>T	ENST00000001008.4	+	9	1381	c.1194G>T	c.(1192-1194)caG>caT	p.Q398H	RP4-816N1.6_ENST00000547834.1_RNA|RP4-816N1.7_ENST00000547042.1_RNA	NM_002014.3	NP_002005.1	Q02790	FKBP4_HUMAN	FK506 binding protein 4, 59kDa	398	Interaction with tubulin. {ECO:0000250}.				androgen receptor signaling pathway (GO:0030521)|chaperone-mediated protein folding (GO:0061077)|copper ion transport (GO:0006825)|embryo implantation (GO:0007566)|male sex differentiation (GO:0046661)|negative regulation of microtubule polymerization (GO:0031115)|negative regulation of microtubule polymerization or depolymerization (GO:0031111)|negative regulation of neuron projection development (GO:0010977)|prostate gland development (GO:0030850)|protein complex localization (GO:0031503)|protein folding (GO:0006457)|protein peptidyl-prolyl isomerization (GO:0000413)|steroid hormone receptor complex assembly (GO:0006463)	axonal growth cone (GO:0044295)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	ATP binding (GO:0005524)|FK506 binding (GO:0005528)|GTP binding (GO:0005525)|heat shock protein binding (GO:0031072)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|poly(A) RNA binding (GO:0044822)|protein binding, bridging (GO:0030674)	p.Q398H(2)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)|skin(1)	14			OV - Ovarian serous cystadenocarcinoma(31;0.00105)			TGTGCCAGCAGCGGATCCGAA	0.567																																						ENST00000001008.4																			2	Substitution - Missense(2)	p.Q398H(2)	prostate(1)|central_nervous_system(1)	breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)|skin(1)	14						c.(1192-1194)caG>caT		FK506 binding protein 4, 59kDa	Dimethyl sulfoxide(DB01093)						69	75	73					12																	2910444		2203	4300	6503	SO:0001583	missense	2288				negative regulation of microtubule polymerization or depolymerization|negative regulation of neuron projection development|protein folding	axonal growth cone|cytosol|membrane|microtubule|nucleus	FK506 binding|heat shock protein binding|peptidyl-prolyl cis-trans isomerase activity|protein binding, bridging	g.chr12:2910444G>T	M88279	CCDS8512.1	12p13.33	2013-01-10	2002-08-29		ENSG00000004478	ENSG00000004478		"Tetratricopeptide (TTC) repeat domain containing"	3720	protein-coding gene	gene with protein product		600611	"FK506-binding protein 4 (59kD)"			1279700	Standard	NM_002014		Approved	FKBP59, FKBP52	uc001qkz.3	Q02790	OTTHUMG00000090429	ENST00000001008.4:c.1194G>T	12.37:g.2910444G>T	ENSP00000001008:p.Gln398His					RP4-816N1.6_ENST00000547834.1_RNA|RP4-816N1.7_ENST00000547042.1_RNA	p.Q398H	NM_002014.3	NP_002005.1	Q02790	FKBP4_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00105)		9	1381	+			398			Interaction with tubulin (By similarity).		D3DUQ1|Q9UCP1|Q9UCV7	Missense_Mutation	SNP	ENST00000001008.4	37	c.1194G>T	CCDS8512.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.01|15.01	2.707525|2.707525	0.48412|0.48412	.|.	.|.	ENSG00000004478|ENSG00000004478	ENST00000001008|ENST00000539181	T|.	0.74002|.	-0.8|.	5.57|5.57	5.57|5.57	0.84162|0.84162	Tetratricopeptide-like helical (1);|.	0.220091|.	0.48286|.	D|.	0.000190|.	T|T	0.48537|0.48537	0.1505|0.1505	L|L	0.39147|0.39147	1.195|1.195	0.47547|0.47547	D|D	0.999451|0.999451	B|.	0.14438|.	0.01|.	B|.	0.06405|.	0.002|.	T|T	0.43637|0.43637	-0.9379|-0.9379	10|5	0.48119|.	T|.	0.1|.	-32.8682|-32.8682	6.9249|6.9249	0.24410|0.24410	0.0902:0.0:0.7343:0.1755|0.0902:0.0:0.7343:0.1755	.|.	398|.	Q02790|.	FKBP4_HUMAN|.	H|I	398|34	ENSP00000001008:Q398H|.	ENSP00000001008:Q398H|.	Q|S	+|+	3|2	2|0	FKBP4|FKBP4	2780705|2780705	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.808000|0.808000	0.45660|0.45660	1.267000|1.267000	0.33050|0.33050	2.619000|2.619000	0.88677|0.88677	0.561000|0.561000	0.74099|0.74099	CAG|AGC		0.567	FKBP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206861.1			37	195	1	0	4.92203e-23	0.819951	5.70955e-23	37	195					T	2910444	G	T	2910444	3	4	37	1	0	0	0	0	1	0	0	0	5910	962	34	5	1228	5	FKBP4	12	2910444	Missense_Mutation	SNP	G	TCGA-CH-5772-01A-11D-1576-08		2910444	130941451	56	2019											
GRIN2B	2904	broad.mit.edu	37	chr12	13717457	13717457	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gacaggttagccatgttcttGgccgtgcgcagcaggcgcag	7	8	15	11	3	1	0	0	0	1	0	1	1	1	0	2	3	3	5	2	3	1	3	rs568858172		TCGA-CH-5772-01A-11D-1576-08	TCGA-CH-5772-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a94aed7-03d7-463d-bb87-bca2994f297d	87c4609d-4743-435b-8e1c-b5187a750224	g.chr12:13717457G>T	ENST00000609686.1	-	13	2924	c.2715C>A	c.(2713-2715)gcC>gcA	p.A905A		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	905					behavioral fear response (GO:0001662)|behavioral response to pain (GO:0048266)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|glutamate receptor signaling pathway (GO:0007215)|in utero embryonic development (GO:0001701)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning (GO:0007612)|learning or memory (GO:0007611)|memory (GO:0007613)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of synaptic plasticity (GO:0048167)|response to ethanol (GO:0045471)|sensory organ development (GO:0007423)|startle response (GO:0001964)|suckling behavior (GO:0001967)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)	p.A905A(2)		NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Haloperidol(DB00502)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	CCATGTTCTTGGCCGTGCGCA	0.592																																						ENST00000279593.3																			2	Substitution - coding silent(2)	p.A905A(2)	prostate(2)	NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143						c.(2713-2715)gcC>gcA		glutamate receptor, ionotropic, N-methyl D-aspartate 2B	Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)						159	146	150					12																	13717457		2203	4300	6503	SO:0001819	synonymous_variant	2904				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	g.chr12:13717457G>T		CCDS8662.1	12p13.1	2014-07-16			ENSG00000273079			"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4586	protein-coding gene	gene with protein product		138252		NMDAR2B		1350383	Standard	NM_000834		Approved	GluN2B	uc001rbt.2	Q13224	OTTHUMG00000137373	ENST00000609686.1:c.2715C>A	12.37:g.13717457G>T							p.A905A	NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN			13	2924	-			905					Q12919|Q13220|Q13225|Q14CU4|Q9UM56	Silent	SNP	ENST00000609686.1	37	c.2715C>A	CCDS8662.1																																																																																				0.592	GRIN2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268014.2			17	326	1	0	1.33834e-09	0.557998	1.52203e-09	17	326					T	13717457	G	T	13717457	2	4	37	1	0	0	0	0	0	0	0	1	6780	1335	47	5		5	GRIN2B	12	13717457	Silent	SNP	G	TCGA-CH-5772-01A-11D-1576-08	10807013	13717457	120134438	57	2020											
AVPR1A	552	broad.mit.edu	37	chr12	63543828	63543828	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaccccttttggaaggccacAcccgcttgctctgcaccctt	7	10	7	17	1	1	0	0	0	1	0	1	1	1	1	5	2	3	3	5	2	2	4			TCGA-CH-5772-01A-11D-1576-08	TCGA-CH-5772-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a94aed7-03d7-463d-bb87-bca2994f297d	87c4609d-4743-435b-8e1c-b5187a750224	g.chr12:63543828A>G	ENST00000299178.2	-	1	894	c.789T>C	c.(787-789)ggT>ggC	p.G263G		NM_000706.4	NP_000697.1	P37288	V1AR_HUMAN	arginine vasopressin receptor 1A	263					activation of phospholipase C activity (GO:0007202)|blood circulation (GO:0008015)|calcium-mediated signaling (GO:0019722)|cellular response to water deprivation (GO:0042631)|G-protein coupled receptor signaling pathway (GO:0007186)|generation of precursor metabolites and energy (GO:0006091)|grooming behavior (GO:0007625)|maternal aggressive behavior (GO:0002125)|maternal behavior (GO:0042711)|myotube differentiation (GO:0014902)|negative regulation of female receptivity (GO:0007621)|negative regulation of transmission of nerve impulse (GO:0051970)|penile erection (GO:0043084)|positive regulation of cell growth (GO:0030307)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cellular pH reduction (GO:0032849)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of glutamate secretion (GO:0014049)|positive regulation of heart rate (GO:0010460)|positive regulation of prostaglandin biosynthetic process (GO:0031394)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of systemic arterial blood pressure (GO:0003084)|positive regulation of vasoconstriction (GO:0045907)|regulation of systemic arterial blood pressure by vasopressin (GO:0001992)|response to corticosterone (GO:0051412)|social behavior (GO:0035176)|sperm ejaculation (GO:0042713)|telencephalon development (GO:0021537)	cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	peptide hormone binding (GO:0017046)|protein kinase C binding (GO:0005080)|vasopressin receptor activity (GO:0005000)	p.G263G(1)		central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(12)|prostate(2)|skin(1)	26			BRCA - Breast invasive adenocarcinoma(9;0.193)	GBM - Glioblastoma multiforme(28;0.0569)	Conivaptan(DB00872)|Desmopressin(DB00035)|Felypressin(DB00093)|Terlipressin(DB02638)|Tolvaptan(DB06212)|Vasopressin(DB00067)	GGAAGGCCACACCCGCTTGCT	0.587																																						ENST00000299178.2																			1	Substitution - coding silent(1)	p.G263G(1)	prostate(1)	central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(12)|prostate(2)|skin(1)	26						c.(787-789)ggT>ggC		arginine vasopressin receptor 1A	Conivaptan(DB00872)|Desmopressin(DB00035)|Felypressin(DB00093)|Terlipressin(DB02638)|Vasopressin(DB00067)						111	107	108					12																	63543828		2203	4300	6503	SO:0001819	synonymous_variant	0				activation of phospholipase C activity|elevation of cytosolic calcium ion concentration|generation of precursor metabolites and energy	endosome|integral to plasma membrane	protein kinase C binding|vasopressin receptor activity	g.chr12:63543828A>G	L25615	CCDS8965.1	12q14-q15	2012-08-08				ENSG00000166148		"GPCR / Class A : Vasopressin and oxytocin receptors"	895	protein-coding gene	gene with protein product		600821		AVPR1		8106369	Standard	NM_000706		Approved		uc001sro.2	P37288		ENST00000299178.2:c.789T>C	12.37:g.63543828A>G							p.G263G	NM_000706.4	NP_000697.1	P37288	V1AR_HUMAN	BRCA - Breast invasive adenocarcinoma(9;0.193)	GBM - Glioblastoma multiforme(28;0.0569)	1	894	-			263						Silent	SNP	ENST00000299178.2	37	c.789T>C	CCDS8965.1																																																																																				0.587	AVPR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406734.1			11	273	0	0	0	0.361761	0	11	273					G	63543828	A	G	63543828	2	3	37	1	0	0	0	0	0	0	0	1	1231	146	6	4		4	AVPR1A	12	63543828	Silent	SNP	A	TCGA-CH-5772-01A-11D-1576-08	49826371	63543828	70308067	58	2021											
ATP7B	540	broad.mit.edu	37	chr13	52513267	52513267	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acccatgctctgcagcgtgtGcacagccagggcagcctcct	7	7	11	16	1	1	0	0	0	1	0	2	0	2	0	4	1	6	4	4	1	0	0			TCGA-CH-5772-01A-11D-1576-08	TCGA-CH-5772-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a94aed7-03d7-463d-bb87-bca2994f297d	87c4609d-4743-435b-8e1c-b5187a750224	g.chr13:52513267G>C	ENST00000242839.4	-	17	3775	c.3619C>G	c.(3619-3621)Cac>Gac	p.H1207D	ATP7B_ENST00000344297.5_Missense_Mutation_p.H1000D|ATP7B_ENST00000417240.2_Missense_Mutation_p.H418D|ATP7B_ENST00000400366.3_Missense_Mutation_p.H1096D|ATP7B_ENST00000448424.2_Missense_Mutation_p.H1129D|ATP7B_ENST00000400370.3_Missense_Mutation_p.H777D|ATP7B_ENST00000482841.1_5'Flank|ATP7B_ENST00000418097.2_Missense_Mutation_p.H1142D	NM_000053.3	NP_000044.2	P35670	ATP7B_HUMAN	ATPase, Cu++ transporting, beta polypeptide	1207			H -> R (in dbSNP:rs7334118). {ECO:0000269|PubMed:10544227, ECO:0000269|PubMed:21682854}.		cellular copper ion homeostasis (GO:0006878)|cellular zinc ion homeostasis (GO:0006882)|copper ion import (GO:0015677)|copper ion transport (GO:0006825)|intracellular copper ion transport (GO:0015680)|ion transmembrane transport (GO:0034220)|lactation (GO:0007595)|response to copper ion (GO:0046688)|sequestering of calcium ion (GO:0051208)|transmembrane transport (GO:0055085)	Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|membrane (GO:0016020)|mitochondrion (GO:0005739)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|copper ion binding (GO:0005507)|copper-exporting ATPase activity (GO:0004008)	p.H1207D(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(23)|ovary(1)|prostate(3)|skin(4)|stomach(2)	55		Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;5.25e-08)	Carboplatin(DB00958)|Cisplatin(DB00515)|Oxaliplatin(DB00526)	TGCAGCGTGTGCACAGCCAGG	0.582									Wilson disease																													ENST00000242839.4																			1	Substitution - Missense(1)	p.H1207D(1)	prostate(1)	NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(23)|ovary(1)|prostate(3)|skin(4)|stomach(2)	55						c.(3619-3621)Cac>Gac		ATPase, Cu++ transporting, beta polypeptide							74	79	77					13																	52513267		2180	4272	6452	SO:0001583	missense	540	Wilson disease	Familial Cancer Database		ATP biosynthetic process|cellular copper ion homeostasis|copper ion import|response to copper ion|sequestering of calcium ion	Golgi membrane|integral to plasma membrane|late endosome|mitochondrion	ATP binding|copper ion binding|copper-exporting ATPase activity|protein binding	g.chr13:52513267G>C	U11700	CCDS41892.1, CCDS45049.1, CCDS58293.1	13q14.3	2012-10-22	2005-11-29		ENSG00000123191	ENSG00000123191	3.6.3.4	"ATPases / P-type"	870	protein-coding gene	gene with protein product	"Wilson disease", "copper pump 2", "copper-transporting ATPase 2"	606882	"ATPase, Cu++ transporting, beta polypeptide (Wilson disease)"	WND		8298641, 8298639	Standard	NM_000053		Approved		uc001vfw.2	P35670	OTTHUMG00000017406	ENST00000242839.4:c.3619C>G	13.37:g.52513267G>C	ENSP00000242839:p.His1207Asp					ATP7B_ENST00000417240.2_Missense_Mutation_p.H418D|ATP7B_ENST00000400366.3_Missense_Mutation_p.H1096D|ATP7B_ENST00000418097.2_Missense_Mutation_p.H1142D|ATP7B_ENST00000448424.2_Missense_Mutation_p.H1129D|ATP7B_ENST00000344297.5_Missense_Mutation_p.H1000D|ATP7B_ENST00000400370.3_Missense_Mutation_p.H777D	p.H1207D	NM_000053.3	NP_000044.2	P35670	ATP7B_HUMAN		GBM - Glioblastoma multiforme(99;5.25e-08)	17	3775	-		Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19)	1207		H -> R (in dbSNP:rs7334118).			Q16318|Q16319|Q4U3V3|Q59FJ9|Q5T7X7	Missense_Mutation	SNP	ENST00000242839.4	37	c.3619C>G	CCDS41892.1	.	.	.	.	.	.	.	.	.	.	G	12.79	2.044949	0.36085	.	.	ENSG00000123191	ENST00000242839;ENST00000400366;ENST00000344297;ENST00000417240;ENST00000448424;ENST00000400370;ENST00000418097	D;D;D;D;D;D;D	0.96104	-3.91;-3.91;-3.91;-3.91;-3.91;-3.91;-3.91	5.15	4.29	0.51040	Haloacid dehalogenase-like hydrolase (1);HAD-like domain (2);	0.139939	0.64402	D	0.000004	D	0.90830	0.7120	N	0.01789	-0.72	0.80722	D	1	D;B;P;B;P;D;P;D	0.61697	0.99;0.068;0.779;0.136;0.779;0.958;0.779;0.961	P;B;B;B;B;P;B;P	0.55615	0.78;0.071;0.369;0.123;0.369;0.759;0.369;0.756	D	0.92805	0.6259	10	0.59425	D	0.04	-17.1855	12.8822	0.58024	0.0794:0.0:0.9206:0.0	.	1129;1159;1142;418;777;1096;1000;1207	E7ET55;B7ZLR4;F5H748;E7EQQ2;F5H562;P35670-3;P35670-2;P35670	.;.;.;.;.;.;.;ATP7B_HUMAN	D	1207;1096;1000;418;1129;777;1142	ENSP00000242839:H1207D;ENSP00000383217:H1096D;ENSP00000342559:H1000D;ENSP00000390360:H418D;ENSP00000416738:H1129D;ENSP00000383221:H777D;ENSP00000393343:H1142D	ENSP00000242839:H1207D	H	-	1	0	ATP7B	51411268	1.000000	0.71417	1.000000	0.80357	0.366000	0.29705	5.444000	0.66587	1.380000	0.46344	0.563000	0.77884	CAC		0.582	ATP7B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045981.1	NM_000053		4	97	0	0	0	0.184627	0	4	97					C	52513267	G	C	52513267	3	2	37	1	0	0	0	0	1	0	0	0	1191	1319	46	5	798	5	ATP7B	13	52513267	Missense_Mutation	SNP	G	TCGA-CH-5772-01A-11D-1576-08		52513267	62656611	59	2022											
NALCN	259232	broad.mit.edu	37	chr13	101944634	101944634	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atagaagtaggaacgccaacGgggaaagctgtcaattgctc	14	7	12	8	2	1	1	1	0	0	1	2	3	1	3	1	3	4	3	1	3	7	3	rs372035044		TCGA-CH-5772-01A-11D-1576-08	TCGA-CH-5772-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a94aed7-03d7-463d-bb87-bca2994f297d	87c4609d-4743-435b-8e1c-b5187a750224	g.chr13:101944634G>A	ENST00000251127.6	-	8	964	c.883C>T	c.(883-885)Cgt>Tgt	p.R295C	NALCN_ENST00000376196.3_Missense_Mutation_p.R295C|NALCN_ENST00000470333.1_5'UTR	NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	295					calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|cell death (GO:0008219)|ion transmembrane transport (GO:0034220)|membrane depolarization during action potential (GO:0086010)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium channel activity (GO:0005272)|voltage-gated calcium channel activity (GO:0005245)	p.R295C(1)		NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					GAACGCCAACGGGGAAAGCTG	0.468																																						ENST00000251127.6																			1	Substitution - Missense(1)	p.R295C(1)	prostate(1)	NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177						c.(883-885)Cgt>Tgt		sodium leak channel, non-selective		G	CYS/ARG	2,4404	4.2+/-10.8	0,2,2201	86	69	75		883	4.3	1	13		75	1,8599	1.2+/-3.3	0,1,4299	no	missense	NALCN	NM_052867.2	180	0,3,6500	AA,AG,GG		0.0116,0.0454,0.0231	probably-damaging	295/1739	101944634	3,13003	2203	4300	6503	SO:0001583	missense	259232					integral to membrane	sodium channel activity|voltage-gated ion channel activity	g.chr13:101944634G>A	AY141972	CCDS9498.1	13q32.3	2012-02-21	2007-04-26	2007-04-26	ENSG00000102452	ENSG00000102452		"Ion channels / Sodium leak channels, non-selective"	19082	protein-coding gene	gene with protein product		611549	"voltage gated channel like 1"	VGCNL1		17448995	Standard	XM_006719943		Approved	bA430M15.1, CanIon	uc001vox.1	Q8IZF0	OTTHUMG00000017295	ENST00000251127.6:c.883C>T	13.37:g.101944634G>A	ENSP00000251127:p.Arg295Cys					NALCN_ENST00000376196.3_Missense_Mutation_p.R295C|NALCN_ENST00000470333.1_5'UTR	p.R295C	NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN			8	964	-	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		295					Q6P2S6|Q6ZMI7|Q8IZZ1|Q8TAH1	Missense_Mutation	SNP	ENST00000251127.6	37	c.883C>T	CCDS9498.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.959823	0.74016	4.54E-4	1.16E-4	ENSG00000102452	ENST00000251127;ENST00000376196	D;D	0.98585	-5.01;-5.01	6.16	4.28	0.50868	Ion transport (1);	0.049727	0.85682	N	0.000000	D	0.96926	0.8996	N	0.14661	0.345	0.80722	D	1	D;D;D	0.76494	0.997;0.999;0.998	D;D;D	0.67725	0.938;0.915;0.953	D	0.96871	0.9639	10	0.56958	D	0.05	.	10.9826	0.47504	0.0669:0.0:0.7227:0.2103	.	295;295;295	F2Z323;B3KSZ6;Q8IZF0	.;.;NALCN_HUMAN	C	295	ENSP00000251127:R295C;ENSP00000365367:R295C	ENSP00000251127:R295C	R	-	1	0	NALCN	100742635	1.000000	0.71417	0.998000	0.56505	0.990000	0.78478	4.437000	0.59955	1.627000	0.50400	0.650000	0.86243	CGT		0.468	NALCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045663.2	NM_052867		8	64	0	0	0	0.27861	0	8	64					A	101944634	G	A	101944634	3	1	37	1	0	0	0	0	1	0	0	0	10148	1116	39	2	4481	2	NALCN	13	101944634	Missense_Mutation	SNP	G	TCGA-CH-5772-01A-11D-1576-08	49431367	101944634	13225244	60	2023											
SLC8A3	6547	broad.mit.edu	37	chr14	70633677	70633677	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctggctgctcctcctctatgCggacattgctcaaccttaca	7	12	7	15	1	2	0	1	0	1	0	4	1	4	1	3	2	5	3	3	2	3	3			TCGA-CH-5772-01A-11D-1576-08	TCGA-CH-5772-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a94aed7-03d7-463d-bb87-bca2994f297d	87c4609d-4743-435b-8e1c-b5187a750224	g.chr14:70633677C>T	ENST00000381269.2	-	2	2216	c.1463G>A	c.(1462-1464)cGc>cAc	p.R488H	SLC8A3_ENST00000357887.3_Missense_Mutation_p.R488H|SLC8A3_ENST00000534137.1_Missense_Mutation_p.R488H|SLC8A3_ENST00000356921.2_Missense_Mutation_p.R488H|SLC8A3_ENST00000528359.1_Missense_Mutation_p.R488H	NM_058240.2|NM_183002.1	NP_489479.1|NP_892114.1	P57103	NAC3_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 3	488					blood coagulation (GO:0007596)|calcium ion export from cell (GO:1990034)|calcium ion import into cell (GO:1990035)|calcium ion transport into cytosol (GO:0060402)|cell communication (GO:0007154)|cellular response to cAMP (GO:0071320)|hematopoietic progenitor cell differentiation (GO:0002244)|ion transport (GO:0006811)|telencephalon development (GO:0021537)|transmembrane transport (GO:0055085)	dendritic spine (GO:0043197)|integral component of membrane (GO:0016021)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)	calcium:sodium antiporter activity (GO:0005432)	p.R488H(1)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6)	54				BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)		CTCCTCTATGCGGACATTGCT	0.527																																						ENST00000381269.2																			1	Substitution - Missense(1)	p.R488H(1)	prostate(1)	NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6)	54						c.(1462-1464)cGc>cAc		solute carrier family 8 (sodium/calcium exchanger), member 3							109	112	111					14																	70633677		2203	4300	6503	SO:0001583	missense	6547				cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding	g.chr14:70633677C>T	AJ304852	CCDS9799.1, CCDS9800.1, CCDS35498.1, CCDS41967.1, CCDS45131.1, CCDS53904.1	14q24.1	2013-05-22	2008-09-02		ENSG00000100678	ENSG00000100678		"Solute carriers"	11070	protein-coding gene	gene with protein product		607991				8798769	Standard	XM_005268017		Approved	NCX3	uc001xly.3	P57103	OTTHUMG00000152342	ENST00000381269.2:c.1463G>A	14.37:g.70633677C>T	ENSP00000370669:p.Arg488His					SLC8A3_ENST00000356921.2_Missense_Mutation_p.R488H|SLC8A3_ENST00000357887.3_Missense_Mutation_p.R488H|SLC8A3_ENST00000534137.1_Missense_Mutation_p.R488H|SLC8A3_ENST00000528359.1_Missense_Mutation_p.R488H	p.R488H	NM_058240.2|NM_183002.1	NP_489479.1|NP_892114.1	P57103	NAC3_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)	2	2216	-			488					Q5K3P6|Q5K3P7|Q8IUE9|Q8IUF0|Q8NFI7|Q96QG1|Q96QG2	Missense_Mutation	SNP	ENST00000381269.2	37	c.1463G>A	CCDS35498.1	.	.	.	.	.	.	.	.	.	.	C	13.31	2.198660	0.38806	.	.	ENSG00000100678	ENST00000356921;ENST00000381269;ENST00000357887;ENST00000534137;ENST00000528359	T;T;T;T;T	0.36520	1.25;1.25;1.25;1.25;1.25	5.54	5.54	0.83059	.	0.051937	0.85682	D	0.000000	T	0.43166	0.1235	N	0.08118	0	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.997;0.994;0.994	T	0.53457	-0.8436	10	0.49607	T	0.09	.	19.4841	0.95022	0.0:1.0:0.0:0.0	.	488;488;488;488	P57103-2;P57103;Q96QG2;Q96QG1	.;NAC3_HUMAN;.;.	H	488	ENSP00000349392:R488H;ENSP00000370669:R488H;ENSP00000350560:R488H;ENSP00000436688:R488H;ENSP00000433531:R488H	ENSP00000349392:R488H	R	-	2	0	SLC8A3	69703430	1.000000	0.71417	0.929000	0.37066	0.303000	0.27691	5.748000	0.68697	2.592000	0.87571	0.650000	0.86243	CGC		0.527	SLC8A3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390736.1			10	295	0	0	0	0.335167	0	10	295					T	70633677	C	T	70633677	3	4	37	1	0	0	0	0	1	0	0	0	14708	768	27	1	1459	1	SLC8A3	14	70633677	Missense_Mutation	SNP	C	TCGA-CH-5772-01A-11D-1576-08		70633677	36715863	61	2024											
AHNAK2	113146	broad.mit.edu	37	chr14	105417068	105417068	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcactttgggcaggtgccCtttgaggccggctccctcgg	3	10	14	14	2	0	1	0	1	0	0	2	1	1	1	3	5	2	3	3	5	0	2			TCGA-CH-5772-01A-11D-1576-08	TCGA-CH-5772-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a94aed7-03d7-463d-bb87-bca2994f297d	87c4609d-4743-435b-8e1c-b5187a750224	g.chr14:105417068C>G	ENST00000333244.5	-	7	4839	c.4720G>C	c.(4720-4722)Ggg>Cgg	p.G1574R	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	1574						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)		p.G1574R(1)		cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GGCAGGTGCCCTTTGAGGCCG	0.607																																						ENST00000333244.5																			1	Substitution - Missense(1)	p.G1574R(1)	prostate(1)	cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33						c.(4720-4722)Ggg>Cgg		AHNAK nucleoprotein 2							109	116	114					14																	105417068		1848	4053	5901	SO:0001583	missense	113146					nucleus		g.chr14:105417068C>G	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"chromosome 14 open reading frame 78"	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.4720G>C	14.37:g.105417068C>G	ENSP00000353114:p.Gly1574Arg					AHNAK2_ENST00000557457.1_Intron	p.G1574R	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)		7	4839	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	1574					Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	ENST00000333244.5	37	c.4720G>C	CCDS45177.1	.	.	.	.	.	.	.	.	.	.	c	11.36	1.616366	0.28801	.	.	ENSG00000185567	ENST00000333244	T	0.01584	4.75	4.12	2.23	0.28157	.	.	.	.	.	T	0.07818	0.0196	M	0.88450	2.955	0.09310	N	1	D	0.76494	0.999	D	0.68943	0.961	T	0.30387	-0.9980	9	0.12103	T	0.63	-24.0033	4.3009	0.10923	0.3123:0.4995:0.0:0.1882	.	1574	Q8IVF2	AHNK2_HUMAN	R	1574	ENSP00000353114:G1574R	ENSP00000353114:G1574R	G	-	1	0	AHNAK2	104488113	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.213000	0.17521	0.212000	0.20703	-0.350000	0.07774	GGG		0.607	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		10	657	0	0	0	0.411799	0	10	657					G	105417068	C	G	105417068	3	3	37	1	0	0	0	0	1	0	0	0	415	681	24	5	12671	5	AHNAK2	14	105417068	Missense_Mutation	SNP	C	TCGA-CH-5772-01A-11D-1576-08	34783391	105417068	1932472	62	2025											
ABHD2	11057	broad.mit.edu	37	chr15	89736470	89736470	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tatgttcttgttgcagatttAtgttcctctcatgctggtta	6	20	8	7	0	2	1	1	0	2	1	4	1	3	1	1	1	2	6	1	1	3	8			TCGA-CH-5772-01A-11D-1576-08	TCGA-CH-5772-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a94aed7-03d7-463d-bb87-bca2994f297d	87c4609d-4743-435b-8e1c-b5187a750224	g.chr15:89736470A>G	ENST00000352732.5	+	10	1521	c.1001A>G	c.(1000-1002)tAt>tGt	p.Y334C	ABHD2_ENST00000355100.3_Missense_Mutation_p.Y334C|ABHD2_ENST00000565973.1_Missense_Mutation_p.Y334C	NM_152924.4	NP_690888.1	P08910	ABHD2_HUMAN	abhydrolase domain containing 2	334					negative regulation of cell migration (GO:0030336)|response to wounding (GO:0009611)	integral component of membrane (GO:0016021)	carboxylic ester hydrolase activity (GO:0052689)	p.Y334C(1)		NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|soft_tissue(1)	23	Lung NSC(78;0.0472)|all_lung(78;0.089)					TTGCAGATTTATGTTCCTCTC	0.408																																					Colon(11;252 417 24570 33239 41878)	ENST00000352732.5																			1	Substitution - Missense(1)	p.Y334C(1)	prostate(1)	NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|soft_tissue(1)	23						c.(1000-1002)tAt>tGt		abhydrolase domain containing 2							207	170	182					15																	89736470		2200	4299	6499	SO:0001583	missense	11057					integral to membrane	carboxylesterase activity	g.chr15:89736470A>G	X12433	CCDS10348.1	15q26.1	2006-10-06			ENSG00000140526	ENSG00000140526		"Abhydrolase domain containing"	18717	protein-coding gene	gene with protein product		612196					Standard	NM_152924		Approved	LABH2	uc002bnk.2	P08910	OTTHUMG00000148684	ENST00000352732.5:c.1001A>G	15.37:g.89736470A>G	ENSP00000268129:p.Tyr334Cys					ABHD2_ENST00000355100.3_Missense_Mutation_p.Y334C|ABHD2_ENST00000565973.1_Missense_Mutation_p.Y334C	p.Y334C	NM_152924.4	NP_690888.1	P08910	ABHD2_HUMAN			10	1521	+	Lung NSC(78;0.0472)|all_lung(78;0.089)		334					Q53G48|Q53GU0|Q5FVD9|Q8TC79	Missense_Mutation	SNP	ENST00000352732.5	37	c.1001A>G	CCDS10348.1	.	.	.	.	.	.	.	.	.	.	A	17.36	3.370719	0.61624	.	.	ENSG00000140526	ENST00000352732;ENST00000355100	T;T	0.41400	1.0;1.0	5.33	4.19	0.49359	Uncharacterised protein family UPF0017, hydrolase-like, conserved site (1);Alpha/beta hydrolase fold-1 (1);	0.285381	0.38897	N	0.001537	T	0.25938	0.0632	N	0.08118	0	0.37314	D	0.909245	P	0.47841	0.901	B	0.42386	0.386	T	0.25745	-1.0123	10	0.51188	T	0.08	1.414	12.6689	0.56857	0.8618:0.1382:0.0:0.0	.	334	P08910	ABHD2_HUMAN	C	334	ENSP00000268129:Y334C;ENSP00000347217:Y334C	ENSP00000268129:Y334C	Y	+	2	0	ABHD2	87537474	0.954000	0.32549	0.996000	0.52242	0.991000	0.79684	3.688000	0.54699	0.946000	0.37632	0.460000	0.39030	TAT		0.408	ABHD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309074.2			33	123	0	0	0	0.750413	0	33	123					G	89736470	A	G	89736470	3	3	37	1	0	0	0	0	1	0	0	0	82	449	16	4	1031	4	ABHD2	15	89736470	Missense_Mutation	SNP	A	TCGA-CH-5772-01A-11D-1576-08		89736470	12794922	63	2026											
POLG	5428	broad.mit.edu	37	chr15	89871740	89871740	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acctcatgggtggcccacacGtcctgggcacagtactgcat	8	8	11	14	1	1	0	1	0	0	0	2	0	2	0	3	3	2	3	3	3	1	1			TCGA-CH-5772-01A-11D-1576-08	TCGA-CH-5772-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a94aed7-03d7-463d-bb87-bca2994f297d	87c4609d-4743-435b-8e1c-b5187a750224	g.chr15:89871740G>A	ENST00000268124.5	-	6	1530	c.1197C>T	c.(1195-1197)gaC>gaT	p.D399D	POLG_ENST00000442287.2_Silent_p.D399D	NM_001126131.1|NM_002693.2	NP_001119603.1|NP_002684.1	P54098	DPOG1_HUMAN	polymerase (DNA directed), gamma	399					aging (GO:0007568)|base-excision repair, gap-filling (GO:0006287)|cell death (GO:0008219)|DNA metabolic process (GO:0006259)|DNA-dependent DNA replication (GO:0006261)|mitochondrial DNA replication (GO:0006264)	extracellular vesicular exosome (GO:0070062)|gamma DNA polymerase complex (GO:0005760)|mitochondrial inner membrane (GO:0005743)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|exonuclease activity (GO:0004527)|protease binding (GO:0002020)	p.D399D(1)		breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(3)|urinary_tract(2)	33	Lung NSC(78;0.0472)|all_lung(78;0.089)		STAD - Stomach adenocarcinoma(125;0.165)			TGGCCCACACGTCCTGGGCAC	0.607								DNA polymerases (catalytic subunits)																													Colon(73;648 1203 11348 18386 27782)	ENST00000268124.5																			1	Substitution - coding silent(1)	p.D399D(1)	prostate(1)	breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(3)|urinary_tract(2)	33						c.(1195-1197)gaC>gaT	DNA polymerases (catalytic subunits)	polymerase (DNA directed), gamma							48	42	44					15																	89871740		2200	4299	6499	SO:0001819	synonymous_variant	5428				base-excision repair, gap-filling|cell death|DNA-dependent DNA replication	mitochondrial nucleoid	DNA binding|DNA-directed DNA polymerase activity|protease binding	g.chr15:89871740G>A	X98093	CCDS10350.1	15q24	2014-09-17			ENSG00000140521	ENSG00000140521		"DNA polymerases"	9179	protein-coding gene	gene with protein product		174763				9465903	Standard	NM_002693		Approved	POLG1, POLGA	uc002bnr.4	P54098	OTTHUMG00000149646	ENST00000268124.5:c.1197C>T	15.37:g.89871740G>A						POLG_ENST00000442287.2_Silent_p.D399D	p.D399D	NM_001126131.1|NM_002693.2	NP_001119603.1|NP_002684.1	P54098	DPOG1_HUMAN	STAD - Stomach adenocarcinoma(125;0.165)		6	1530	-	Lung NSC(78;0.0472)|all_lung(78;0.089)		399					Q8NFM2|Q92515	Silent	SNP	ENST00000268124.5	37	c.1197C>T	CCDS10350.1																																																																																				0.607	POLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000312854.2	NM_002693		39	45	0	0	0	0.840704	0	39	45					A	89871740	G	A	89871740	2	1	37	1	0	0	0	0	0	0	0	1	12200	1136	40	1		1	POLG	15	89871740	Silent	SNP	G	TCGA-CH-5772-01A-11D-1576-08	135270	89871740	12659652	64	2027											
RUNDC2A	92017	broad.mit.edu	37	chr16	12136844	12136844	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ccacatcgcctcagacgtggGccggggtcgcgcctggctgc	4	6	15	16	5	1	1	1	0	0	1	3	1	1	1	4	4	1	1	4	4	0	0			TCGA-CH-5772-01A-11D-1576-08	TCGA-CH-5772-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a94aed7-03d7-463d-bb87-bca2994f297d	87c4609d-4743-435b-8e1c-b5187a750224	g.chr16:12136844G>T	ENST00000566228.1	+	5	407	c.338G>T	c.(337-339)gGc>gTc	p.G113V	SNX29_ENST00000568359.1_3'UTR	NM_032167.3	NP_115543.3	Q8TEQ0	SNX29_HUMAN	sorting nexin 29	113	RUN. {ECO:0000255|PROSITE- ProRule:PRU00178}.					extracellular vesicular exosome (GO:0070062)	phosphatidylinositol binding (GO:0035091)	p.G113V(1)		endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	7						TCAGACGTGGGCCGGGGTCGC	0.652																																						ENST00000566228.1																			1	Substitution - Missense(1)	p.G113V(1)	prostate(1)	endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	7						c.(337-339)gGc>gTc		sorting nexin 29							41	34	36					16																	12136844		2197	4300	6497	SO:0001583	missense	92017				cell communication		phosphatidylinositol binding	g.chr16:12136844G>T	AK074072	CCDS10553.2	16p13.13-p13.12	2011-08-16			ENSG00000048471	ENSG00000048471		"Sorting nexins"	30542	protein-coding gene	gene with protein product			"RUN domain containing 2A"	RUNDC2A		16782399	Standard	XM_005255682		Approved	FLJ12363	uc002dby.5	Q8TEQ0		ENST00000566228.1:c.338G>T	16.37:g.12136844G>T	ENSP00000456480:p.Gly113Val					SNX29_ENST00000568359.1_3'UTR	p.G113V	NM_032167.3	NP_115543.3	Q8TEQ0	SNX29_HUMAN			5	407	+			0					B5MDW2|Q8N2X2|Q9HA26	Missense_Mutation	SNP	ENST00000566228.1	37	c.338G>T	CCDS10553.2	.	.	.	.	.	.	.	.	.	.	G	28.5	4.928139	0.92389	.	.	ENSG00000140660	ENST00000268271	.	.	.	4.64	4.64	0.57946	.	0.000000	0.85682	D	0.000000	D	0.82701	0.5094	M	0.87900	2.915	0.80722	D	1	.	.	.	.	.	.	D	0.86451	0.1773	7	0.87932	D	0	-16.1599	16.2512	0.82489	0.0:0.0:1.0:0.0	.	.	.	.	V	113	.	ENSP00000268271:G113V	G	+	2	0	RUNDC2A	12044345	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	9.354000	0.97083	2.404000	0.81709	0.462000	0.41574	GGC		0.652	SNX29-005	PUTATIVE	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422622.1			4	58	1	0	0.00909568	0.150653	0.0095054	4	58					T	12136844	G	T	12136844	3	4	37	1	0	0	0	0	1	0	0	0	13743	1203	42	5	356	5	RUNDC2A	16	12136844	Missense_Mutation	SNP	G	TCGA-CH-5772-01A-11D-1576-08		12136844	78217909	65	2028											
ACSM3	6296	broad.mit.edu	37	chr16	20792044	20792044	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttcctttgcagacatgccaGtgacagccacacctgtgtga	9	11	9	12	0	0	3	0	2	0	1	1	3	1	3	4	0	3	1	4	0	0	2			TCGA-CH-5772-01A-11D-1576-08	TCGA-CH-5772-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a94aed7-03d7-463d-bb87-bca2994f297d	87c4609d-4743-435b-8e1c-b5187a750224	g.chr16:20792044G>C	ENST00000289416.5	+	5	1122	c.647G>C	c.(646-648)aGt>aCt	p.S216T	ACSM3_ENST00000440284.2_Missense_Mutation_p.S216T|ERI2_ENST00000300005.3_Missense_Mutation_p.L303V|ACSM3_ENST00000450120.2_Missense_Mutation_p.S208T	NM_005622.3	NP_005613.2	Q53FZ2	ACSM3_HUMAN	acyl-CoA synthetase medium-chain family member 3	216					cholesterol homeostasis (GO:0042632)|fatty acid biosynthetic process (GO:0006633)|regulation of blood pressure (GO:0008217)	mitochondrial matrix (GO:0005759)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|fatty acid ligase activity (GO:0015645)|metal ion binding (GO:0046872)	p.S216T(1)|p.L303V(1)		breast(1)|endometrium(5)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)	21						AGACATGCCAGTGACAGCCAC	0.428																																						ENST00000289416.5																			2	Substitution - Missense(2)	p.S216T(1)|p.L303V(1)	prostate(2)	breast(1)|endometrium(5)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)	21						c.(646-648)aGt>aCt		acyl-CoA synthetase medium-chain family member 3							179	158	165					16																	20792044		2201	4300	6501	SO:0001583	missense	6296				regulation of blood pressure	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding	g.chr16:20792044G>C	D16350	CCDS10589.1, CCDS45435.1	16p13.11	2006-02-08	2005-09-08	2005-09-08	ENSG00000005187	ENSG00000005187		"Acyl-CoA synthetase family"	10522	protein-coding gene	gene with protein product		145505	"SA (rat hypertension-associated) homolog", "SA hypertension-associated homolog (rat)"	SAH		7843754, 7907320, 11470804	Standard	NM_005622		Approved	SA	uc002dhr.3	Q53FZ2	OTTHUMG00000131552	ENST00000289416.5:c.647G>C	16.37:g.20792044G>C	ENSP00000289416:p.Ser216Thr					ACSM3_ENST00000450120.2_Missense_Mutation_p.S208T|ACSM3_ENST00000440284.2_Missense_Mutation_p.S216T|ERI2_ENST00000300005.3_Missense_Mutation_p.L303V	p.S216T	NM_005622.3	NP_005613.2	Q53FZ2	ACSM3_HUMAN			5	1122	+			216					O60363|Q13732|Q15425|Q7KYM6|Q9BUA2	Missense_Mutation	SNP	ENST00000289416.5	37	c.647G>C	CCDS10589.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.00|15.00	2.702405|2.702405	0.48307|0.48307	.|.	.|.	ENSG00000196678|ENSG00000005187	ENST00000300005|ENST00000289416;ENST00000440284;ENST00000450120	.|T;T;T	.|0.41065	.|1.01;1.01;1.49	5.95|5.95	2.72|2.72	0.32119|0.32119	.|AMP-dependent synthetase/ligase (1);	.|0.337248	.|0.29868	.|N	.|0.010982	T|T	0.38612|0.38612	0.1047|0.1047	.|.	.|.	.|.	0.09310|0.09310	N|N	0.99999|0.99999	B|B;B;B	0.20052|0.21071	0.041|0.051;0.001;0.036	B|B;B;B	0.21917|0.29077	0.037|0.098;0.019;0.056	T|T	0.43507|0.43507	-0.9387|-0.9387	7|9	0.30078|0.56958	T|D	0.28|0.05	-5.561|-5.561	15.8412|15.8412	0.78845|0.78845	0.0:0.5663:0.4337:0.0|0.0:0.5663:0.4337:0.0	.|.	303|208;216;216	A8K979-4|E7ETR5;Q53FZ2;Q53FZ2-2	.|.;ACSM3_HUMAN;.	V|T	303|216;216;208	.|ENSP00000289416:S216T;ENSP00000394565:S216T;ENSP00000395297:S208T	ENSP00000300005:L303V|ENSP00000289416:S216T	L|S	-|+	1|2	2|0	ERI2|ACSM3	20699545|20699545	0.050000|0.050000	0.20438|0.20438	0.914000|0.914000	0.36105|0.36105	0.636000|0.636000	0.38137|0.38137	1.408000|1.408000	0.34668|0.34668	0.823000|0.823000	0.34589|0.34589	0.655000|0.655000	0.94253|0.94253	CTG|AGT		0.428	ACSM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254414.2	NM_005622		5	219	0	0	0	0.184627	0	5	219					C	20792044	G	C	20792044	3	2	37	1	0	0	0	0	1	0	0	0	185	1029	36	5	661	5	ACSM3	16	20792044	Missense_Mutation	SNP	G	TCGA-CH-5772-01A-11D-1576-08	8655200	20792044	69562709	66	2029											
HERPUD1	9709	broad.mit.edu	37	chr16	56976046	56976046	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatgtgcttcctttgaaggcAtcacgttgggtggtttccat	6	16	11	8	1	1	1	1	1	0	0	3	1	3	1	2	3	1	4	2	3	2	5			TCGA-CH-5772-01A-11D-1576-08	TCGA-CH-5772-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a94aed7-03d7-463d-bb87-bca2994f297d	87c4609d-4743-435b-8e1c-b5187a750224	g.chr16:56976046A>G	ENST00000439977.2	+	7	1105	c.908A>G	c.(907-909)cAt>cGt	p.H303R	HERPUD1_ENST00000379792.2_Missense_Mutation_p.H278R|HERPUD1_ENST00000344114.4_Missense_Mutation_p.H144R|RP11-325K4.3_ENST00000565861.1_RNA|HERPUD1_ENST00000300302.5_Missense_Mutation_p.H302R|HERPUD1_ENST00000570273.1_3'UTR|RP11-325K4.2_ENST00000570210.1_RNA	NM_001010989.1|NM_014685.2	NP_001010989.1|NP_055500.1	Q15011	HERP1_HUMAN	homocysteine-inducible, endoplasmic reticulum stress-inducible, ubiquitin-like domain member 1	303					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular calcium ion homeostasis (GO:0006874)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|positive regulation of protein binding (GO:0032092)|regulation of protein ubiquitination (GO:0031396)|response to unfolded protein (GO:0006986)|ubiquitin-dependent protein catabolic process (GO:0006511)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)		p.H302R(1)|p.H303R(1)		cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|stomach(1)	11						CTTTGAAGGCATCACGTTGGG	0.478			T	ERG	prostate																																	ENST00000439977.2				Dom	yes		16	16q12.2-q13	9709	T	"homocysteine-inducible, endoplasmic reticulum stress-inducible, ubiquitin-like domain member 1"			E	ERG		prostate		2	Substitution - Missense(2)	p.H302R(1)|p.H303R(1)	prostate(2)	cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|stomach(1)	11						c.(907-909)cAt>cGt		homocysteine-inducible, endoplasmic reticulum stress-inducible, ubiquitin-like domain member 1							200	173	182					16																	56976046		2198	4300	6498	SO:0001583	missense	9709					endoplasmic reticulum membrane|integral to membrane	protein binding	g.chr16:56976046A>G	AB034989	CCDS10771.1, CCDS45492.1	16q13	2008-05-14			ENSG00000051108	ENSG00000051108			13744	protein-coding gene	gene with protein product		608070				10922362, 10708769	Standard	NM_001010989		Approved	KIAA0025, Mif1, HERP, SUP	uc002eke.2	Q15011	OTTHUMG00000133276	ENST00000439977.2:c.908A>G	16.37:g.56976046A>G	ENSP00000409555:p.His303Arg					HERPUD1_ENST00000379792.2_Missense_Mutation_p.H278R|HERPUD1_ENST00000344114.4_Missense_Mutation_p.H144R|HERPUD1_ENST00000570273.1_3'UTR|HERPUD1_ENST00000300302.5_Missense_Mutation_p.H302R	p.H303R	NM_001010989.1|NM_014685.2	NP_001010989.1|NP_055500.1	Q15011	HERP1_HUMAN			7	1105	+			303					E9PGD1|O60644|Q6IAN8|Q96D92	Missense_Mutation	SNP	ENST00000439977.2	37	c.908A>G	CCDS10771.1	.	.	.	.	.	.	.	.	.	.	A	17.53	3.411802	0.62511	.	.	ENSG00000051108	ENST00000439977;ENST00000379792;ENST00000300302;ENST00000344114	T;T;T	0.52754	2.09;2.19;0.65	5.56	5.56	0.83823	.	0.000000	0.85682	D	0.000000	T	0.69646	0.3134	M	0.76838	2.35	0.80722	D	1	D;P;P;P	0.89917	1.0;0.722;0.867;0.679	D;B;P;B	0.91635	0.999;0.282;0.522;0.202	T	0.73742	-0.3887	10	0.72032	D	0.01	-11.1131	15.1808	0.72956	1.0:0.0:0.0:0.0	.	144;278;302;303	Q15011-3;E9PGD1;Q15011-2;Q15011	.;.;.;HERP1_HUMAN	R	302;278;303;144	ENSP00000369118:H278R;ENSP00000300302:H303R;ENSP00000340931:H144R	ENSP00000300302:H303R	H	+	2	0	HERPUD1	55533547	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.010000	0.70753	2.246000	0.74042	0.533000	0.62120	CAT		0.478	HERPUD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257056.5			10	263	0	0	0	0.411799	0	10	263					G	56976046	A	G	56976046	3	3	37	1	0	0	0	0	1	0	0	0	7063	217	8	4	934	4	HERPUD1	16	56976046	Missense_Mutation	SNP	A	TCGA-CH-5772-01A-11D-1576-08	36184002	56976046	33378707	67	2030											
CDH13	1012	broad.mit.edu	37	chr16	83704517	83704517	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	atcatcaacggaaaccccggGcagagctttgaaatccacac	14	6	8	13	2	2	2	2	1	0	1	3	3	3	3	3	2	3	2	3	2	3	1			TCGA-CH-5772-01A-11D-1576-08	TCGA-CH-5772-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a94aed7-03d7-463d-bb87-bca2994f297d	87c4609d-4743-435b-8e1c-b5187a750224	g.chr16:83704517G>C	ENST00000566620.1	+	9	1514	c.1224G>C	c.(1222-1224)ggG>ggC	p.G408G	CDH13_ENST00000268613.10_Silent_p.G455G|CDH13_ENST00000428848.3_Silent_p.G369G	NM_001220488.1|NM_001220489.1|NM_001220490.1|NM_001257.4	NP_001207417.1|NP_001207418.1|NP_001207419.1|NP_001248.1	P55290	CAD13_HUMAN	cadherin 13	408	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|calcium-dependent cell-cell adhesion (GO:0016339)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|endothelial cell migration (GO:0043542)|homophilic cell adhesion (GO:0007156)|keratinocyte proliferation (GO:0043616)|lamellipodium assembly (GO:0030032)|localization within membrane (GO:0051668)|low-density lipoprotein particle mediated signaling (GO:0055096)|mitotic cell cycle (GO:0000278)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell proliferation (GO:0008285)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of cell migration (GO:0030335)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|Rac protein signal transduction (GO:0016601)|regulation of cell growth (GO:0001558)|regulation of endocytosis (GO:0030100)|regulation of epidermal growth factor receptor signaling pathway (GO:0042058)|Rho protein signal transduction (GO:0007266)|sprouting angiogenesis (GO:0002040)	anchored component of membrane (GO:0031225)|caveola (GO:0005901)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	adiponectin binding (GO:0055100)|cadherin binding (GO:0045296)|calcium ion binding (GO:0005509)|lipoprotein particle binding (GO:0071813)|low-density lipoprotein particle binding (GO:0030169)	p.G408G(1)		large_intestine(1)	1		all_cancers(2;1.34e-11)|all_epithelial(2;4.3e-09)		COAD - Colon adenocarcinoma(5;0.0268)		GAAACCCCGGGCAGAGCTTTG	0.502																																						ENST00000566620.1																			1	Substitution - coding silent(1)	p.G408G(1)	prostate(1)	large_intestine(1)	1						c.(1222-1224)ggG>ggC		cadherin 13							140	137	138					16																	83704517		1940	4148	6088	SO:0001819	synonymous_variant	1012				adherens junction organization|calcium-dependent cell-cell adhesion|cell junction assembly|endothelial cell migration|homophilic cell adhesion|keratinocyte proliferation|lamellipodium assembly|localization within membrane|low-density lipoprotein particle mediated signaling|negative regulation of cell adhesion|negative regulation of cell proliferation|positive regulation of calcium-mediated signaling|positive regulation of cell migration|positive regulation of cell-matrix adhesion|positive regulation of endothelial cell proliferation|positive regulation of positive chemotaxis|positive regulation of smooth muscle cell proliferation|positive regulation of survival gene product expression|Rac protein signal transduction|regulation of endocytosis|regulation of epidermal growth factor receptor signaling pathway|Rho protein signal transduction|sprouting angiogenesis	anchored to membrane|caveola|extracellular space|integral to membrane|neuron projection	adiponectin binding|cadherin binding|calcium ion binding|low-density lipoprotein particle binding	g.chr16:83704517G>C	U59288	CCDS56009.1, CCDS56010.1, CCDS58485.1, CCDS58486.1, CCDS58487.1	16q23.3	2013-08-27	2013-08-27			ENSG00000140945		"Cadherins / Major cadherins"	1753	protein-coding gene	gene with protein product	"T-cadherin", "H-cadherin (heart)"	601364				8673923, 9468307	Standard	NM_001257		Approved	CDHH	uc010vns.2	P55290		ENST00000566620.1:c.1224G>C	16.37:g.83704517G>C						CDH13_ENST00000428848.3_Silent_p.G369G|CDH13_ENST00000268613.10_Silent_p.G455G	p.G408G	NM_001220488.1|NM_001220489.1|NM_001220490.1|NM_001257.4	NP_001207417.1|NP_001207418.1|NP_001207419.1|NP_001248.1	P55290	CAD13_HUMAN		COAD - Colon adenocarcinoma(5;0.0268)	9	1514	+		all_cancers(2;1.34e-11)|all_epithelial(2;4.3e-09)	408			Cadherin 3.		A8W476|A8W477|B7Z590|C9JRI6|J3KN62|Q6GTW4|Q8TBX3	Silent	SNP	ENST00000566620.1	37	c.1224G>C	CCDS58486.1																																																																																				0.502	CDH13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432917.1	NM_001257		10	221	0	0	0	0.361761	0	10	221					C	83704517	G	C	83704517	2	2	37	1	0	0	0	0	0	0	0	1	3099	1190	42	5		5	CDH13	16	83704517	Silent	SNP	G	TCGA-CH-5772-01A-11D-1576-08	26728471	83704517	6650236	68	2031											
TNFSF12	8742	broad.mit.edu	37	chr17	7460486	7460486	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggatggtgtgctggccctgcGctgcctggaggaattctcag	5	10	16	10	1	1	0	1	0	1	0	2	3	1	3	2	5	3	2	2	5	1	1			TCGA-CH-5772-01A-11D-1576-08	TCGA-CH-5772-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a94aed7-03d7-463d-bb87-bca2994f297d	87c4609d-4743-435b-8e1c-b5187a750224	g.chr17:7460486G>C	ENST00000293825.6	+	7	832	c.569G>C	c.(568-570)cGc>cCc	p.R190P	TNFSF13_ENST00000396545.4_5'Flank|TNFSF12_ENST00000557233.1_Intron|TNFSF13_ENST00000396542.1_5'Flank|TNFSF12-TNFSF13_ENST00000293826.4_Intron|TNFSF13_ENST00000483039.1_5'Flank|TNFSF13_ENST00000380535.4_5'Flank|TNFSF13_ENST00000349228.4_5'Flank|TNFSF12_ENST00000462811.1_3'UTR|TNFSF13_ENST00000338784.4_5'Flank	NM_003809.2	NP_003800.1	O43508	TNF12_HUMAN	tumor necrosis factor (ligand) superfamily, member 12	190					angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cell differentiation (GO:0030154)|endothelial cell migration (GO:0043542)|immune response (GO:0006955)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|perinuclear region of cytoplasm (GO:0048471)	cytokine activity (GO:0005125)|receptor binding (GO:0005102)	p.R190H(1)|p.R190P(1)		central_nervous_system(1)|endometrium(3)|large_intestine(5)|prostate(2)	11		Prostate(122;0.157)				CTGGCCCTGCGCTGCCTGGAG	0.657																																						ENST00000293825.6																			2	Substitution - Missense(2)	p.R190H(1)|p.R190P(1)	prostate(1)|endometrium(1)	central_nervous_system(1)|endometrium(3)|large_intestine(5)|prostate(2)	11						c.(568-570)cGc>cCc		tumor necrosis factor (ligand) superfamily, member 12							110	82	92					17																	7460486		2203	4300	6503	SO:0001583	missense	8742							g.chr17:7460486G>C	AF030099	CCDS11109.1	17p13.1	2008-02-01			ENSG00000239697	ENSG00000239697		"Tumor necrosis factor (ligand) superfamily"	11927	protein-coding gene	gene with protein product		602695				9405449, 9560343	Standard	NM_003809		Approved	TWEAK, DR3LG, APO3L		O43508	OTTHUMG00000108148	ENST00000293825.6:c.569G>C	17.37:g.7460486G>C	ENSP00000293825:p.Arg190Pro					TNFSF12_ENST00000462811.1_3'UTR|TNFSF12-TNFSF13_ENST00000293826.4_Intron|TNFSF12_ENST00000557233.1_Intron	p.R190P	NM_003809.2	NP_003800.1					7	832	+		Prostate(122;0.157)						Q8IZK7|Q8WUZ7	Missense_Mutation	SNP	ENST00000293825.6	37	c.569G>C	CCDS11109.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.237786	0.79800	.	.	ENSG00000239697	ENST00000293825	D	0.94966	-3.57	3.99	3.99	0.46301	Tumour necrosis factor (3);Tumour necrosis factor-like (2);	.	.	.	.	D	0.94964	0.8371	L	0.29908	0.895	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	D	0.95523	0.8596	9	0.66056	D	0.02	.	15.3651	0.74516	0.0:0.0:1.0:0.0	.	190	O43508	TNF12_HUMAN	P	190	ENSP00000293825:R190P	ENSP00000293825:R190P	R	+	2	0	TNFSF12	7401210	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.426000	0.59882	2.236000	0.73375	0.561000	0.74099	CGC		0.657	TNFSF12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226951.2	NM_003809		28	45	0	0	0	0.681144	0	28	45					C	7460486	G	C	7460486	3	2	37	1	0	0	0	0	1	0	0	0	16300	1087	38	5	595	5	TNFSF12	17	7460486	Missense_Mutation	SNP	G	TCGA-CH-5772-01A-11D-1576-08		7460486	73734724	69	2032											
PER1	5187	broad.mit.edu	37	chr17	8052022	8052022	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcacggctgtgcaggggcccCatctgagacccggatcttgg	6	7	15	13	2	2	1	0	1	2	1	2	3	2	2	3	5	1	3	3	5	0	1			TCGA-CH-5772-01A-11D-1576-08	TCGA-CH-5772-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a94aed7-03d7-463d-bb87-bca2994f297d	87c4609d-4743-435b-8e1c-b5187a750224	g.chr17:8052022C>A	ENST00000317276.4	-	8	1225	c.988G>T	c.(988-990)Ggg>Tgg	p.G330W	PER1_ENST00000578089.1_5'Flank|PER1_ENST00000581082.1_Missense_Mutation_p.G310W|PER1_ENST00000354903.5_Missense_Mutation_p.G314W	NM_002616.2	NP_002607.2	O15534	PER1_HUMAN	period circadian clock 1	330					circadian regulation of gene expression (GO:0032922)|circadian regulation of translation (GO:0097167)|circadian rhythm (GO:0007623)|entrainment of circadian clock (GO:0009649)|entrainment of circadian clock by photoperiod (GO:0043153)|histone H3 acetylation (GO:0043966)|histone H3 deacetylation (GO:0070932)|histone H4 acetylation (GO:0043967)|negative regulation of glucocorticoid receptor signaling pathway (GO:2000323)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of JNK cascade (GO:0046329)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|posttranscriptional regulation of gene expression (GO:0010608)|regulation of circadian rhythm (GO:0042752)|regulation of cytokine production involved in inflammatory response (GO:1900015)|regulation of hair cycle (GO:0042634)|regulation of p38MAPK cascade (GO:1900744)|regulation of sodium ion transport (GO:0002028)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|E-box binding (GO:0070888)|kinase binding (GO:0019900)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|signal transducer activity (GO:0004871)|transcription factor binding transcription factor activity (GO:0000989)|ubiquitin protein ligase binding (GO:0031625)	p.G330W(1)		breast(4)|central_nervous_system(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(15)|ovary(4)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						GCAGGGGCCCCATCTGAGACC	0.642			T	ETV6	"AML, CMML"			Other conserved DNA damage response genes																														ENST00000317276.4				Dom	yes		17	17p13.1-17p12	5187	T	period homolog 1 (Drosophila)			L	ETV6		"AML, CMML"		1	Substitution - Missense(1)	p.G330W(1)	prostate(1)	breast(4)|central_nervous_system(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(15)|ovary(4)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						c.(988-990)Ggg>Tgg	Other conserved DNA damage response genes	period circadian clock 1							75	74	74					17																	8052022		2203	4300	6503	SO:0001583	missense	5187				circadian rhythm|entrainment of circadian clock|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	signal transducer activity	g.chr17:8052022C>A	AB002107	CCDS11131.1	17p13.1	2012-12-13	2012-12-13			ENSG00000179094			8845	protein-coding gene	gene with protein product		602260	"period (Drosophila) homolog 1", "period homolog 1 (Drosophila)"	PER		9323128	Standard	NM_002616		Approved	RIGUI	uc002gkd.3	O15534		ENST00000317276.4:c.988G>T	17.37:g.8052022C>A	ENSP00000314420:p.Gly330Trp					PER1_ENST00000354903.5_Missense_Mutation_p.G314W|PER1_ENST00000581082.1_Missense_Mutation_p.G310W	p.G330W	NM_002616.2	NP_002607.2	O15534	PER1_HUMAN			8	1225	-			330					B2RPA8|B4DI49|D3DTR3	Missense_Mutation	SNP	ENST00000317276.4	37	c.988G>T	CCDS11131.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.051198	0.75960	.	.	ENSG00000179094	ENST00000317276;ENST00000354903	T;T	0.38722	2.51;1.12	5.28	5.28	0.74379	.	0.467747	0.24975	N	0.034104	T	0.52661	0.1748	L	0.43923	1.385	0.42406	D	0.992586	D;D	0.76494	0.97;0.999	P;D	0.68621	0.497;0.959	T	0.53844	-0.8381	10	0.62326	D	0.03	-14.229	9.9427	0.41589	0.0:0.9074:0.0:0.0926	.	314;330	B4DI49;O15534	.;PER1_HUMAN	W	330;314	ENSP00000314420:G330W;ENSP00000346979:G314W	ENSP00000314420:G330W	G	-	1	0	PER1	7992747	0.001000	0.12720	0.999000	0.59377	0.928000	0.56348	0.818000	0.27295	2.483000	0.83821	0.563000	0.77884	GGG		0.642	PER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441481.2			5	203	1	0	1.23904e-05	0.184627	1.35593e-05	5	203					A	8052022	C	A	8052022	3	1	37	1	0	0	0	0	1	0	0	0	11729	594	21	5	2948	5	PER1	17	8052022	Missense_Mutation	SNP	C	TCGA-CH-5772-01A-11D-1576-08	591536	8052022	73143188	70	2033											
PIK3R5	23533	broad.mit.edu	37	chr17	8792523	8792523	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	atggggatggtgtggagcttCcctggttttgcagtgtctgt	4	15	16	6	0	1	0	0	0	1	0	2	2	2	2	1	5	2	3	1	5	0	3			TCGA-CH-5772-01A-11D-1576-08	TCGA-CH-5772-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a94aed7-03d7-463d-bb87-bca2994f297d	87c4609d-4743-435b-8e1c-b5187a750224	g.chr17:8792523C>T	ENST00000447110.1	-	9	952	c.828G>A	c.(826-828)ggG>ggA	p.G276G	PIK3R5_ENST00000581552.1_Silent_p.G276G|PIK3R5_ENST00000584803.1_Silent_p.G276G	NM_001142633.2|NM_001251851.1|NM_001251852.1|NM_001251853.1|NM_001251855.1	NP_001136105.1|NP_001238780.1|NP_001238781.1|NP_001238782.1|NP_001238784.1	Q8WYR1	PI3R5_HUMAN	phosphoinositide-3-kinase, regulatory subunit 5	276				AKTLAELEDIFTETAEAQELASGIGDAAEARRWLRTKLQAV GEKAGFPGVLDTAKPGKLHTIPIPVARCYTYSWSQDS -> TLQNQGSSIPSPSLSPGATPTAGARTALTSCRKSCSRNRSC SSQGSWEMMKRRKRRRRRWRRTWKLMGTVPREIPCSP (in Ref. 6; AAW63122). {ECO:0000305}.	blood coagulation (GO:0007596)|cell death (GO:0008219)|G-protein coupled receptor signaling pathway (GO:0007186)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|small molecule metabolic process (GO:0044281)	1-phosphatidylinositol-4-phosphate 3-kinase, class IB complex (GO:0005944)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	1-phosphatidylinositol-3-kinase regulator activity (GO:0046935)|G-protein beta/gamma-subunit complex binding (GO:0031683)	p.G276G(2)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(14)|prostate(3)|skin(4)|urinary_tract(1)	34						TGTGGAGCTTCCCTGGTTTTG	0.592																																					NSCLC(18;589 615 7696 20311 50332)	ENST00000447110.1																			2	Substitution - coding silent(2)	p.G276G(2)	prostate(2)	breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(14)|prostate(3)|skin(4)|urinary_tract(1)	34						c.(826-828)ggG>ggA		phosphoinositide-3-kinase, regulatory subunit 5							75	68	70					17																	8792523		2203	4300	6503	SO:0001819	synonymous_variant	23533				platelet activation	cytosol|membrane|nucleus		g.chr17:8792523C>T	AF128881	CCDS11147.1, CCDS73986.1	17p13.1	2011-10-13	2008-02-04		ENSG00000141506	ENSG00000141506			30035	protein-coding gene	gene with protein product		611317				12507995	Standard	NM_014308		Approved	P101-PI3K, p101	uc002glt.3	Q8WYR1	OTTHUMG00000108197	ENST00000447110.1:c.828G>A	17.37:g.8792523C>T						PIK3R5_ENST00000581552.1_Silent_p.G276G|PIK3R5_ENST00000584803.1_Silent_p.G276G	p.G276G	NM_001142633.2|NM_001251851.1|NM_001251852.1|NM_001251853.1|NM_001251855.1	NP_001136105.1|NP_001238780.1|NP_001238781.1|NP_001238782.1|NP_001238784.1	Q8WYR1	PI3R5_HUMAN			9	952	-			276	AKTLAELEDIFTETAEAQELASGIGDAAEARRWLRTKLQAV GEKAGFPGVLDTAKPGKLHTIPIPVARCYTYSWSQDS -> TLQNQGSSIPSPSLSPGATPTAGARTALTSCRKSCSRNRSC SSQGSWEMMKRRKRRRRRWRRTWKLMGTVPREIPCSP (in Ref. 6; AAW63122).				B0LPH4|D3DTS3|Q5G936|Q5G938|Q5G939|Q8IZ23|Q9Y2Y2	Silent	SNP	ENST00000447110.1	37	c.828G>A	CCDS11147.1																																																																																				0.592	PIK3R5-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000227003.2	NM_014308		17	48	0	0	0	0.500413	0	17	48					T	8792523	C	T	8792523	2	4	37	1	0	0	0	0	0	0	0	1	11922	842	30	3		3	PIK3R5	17	8792523	Silent	SNP	C	TCGA-CH-5772-01A-11D-1576-08	740501	8792523	72402687	71	2034											
MYH1	4619	broad.mit.edu	37	chr17	10405105	10405105	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tttaagcttttcatcaagttGttgtttgtcattttctatat	8	23	5	5	0	4	0	3	0	1	0	4	0	4	0	0	0	1	4	0	0	4	11			TCGA-CH-5772-01A-11D-1576-08	TCGA-CH-5772-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a94aed7-03d7-463d-bb87-bca2994f297d	87c4609d-4743-435b-8e1c-b5187a750224	g.chr17:10405105G>T	ENST00000226207.5	-	25	3329	c.3235C>A	c.(3235-3237)Caa>Aaa	p.Q1079K	RP11-799N11.1_ENST00000399342.2_RNA|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	1079					muscle contraction (GO:0006936)	A band (GO:0031672)|cytoplasmic ribonucleoprotein granule (GO:0036464)|intercalated disc (GO:0014704)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)	p.Q1079K(1)		NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						TCATCAAGTTGTTGTTTGTCA	0.343																																						ENST00000226207.5																			1	Substitution - Missense(1)	p.Q1079K(1)	prostate(1)	NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						c.(3235-3237)Caa>Aaa		myosin, heavy chain 1, skeletal muscle, adult							85	70	75					17																	10405105		2203	4298	6501	SO:0001583	missense	4619					muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity	g.chr17:10405105G>T		CCDS11155.1	17p13.1	2013-09-19	2006-09-29		ENSG00000109061	ENSG00000109061		"Myosins / Myosin superfamily : Class II"	7567	protein-coding gene	gene with protein product	"myosin heavy chain IIx/d"	160730	"myosin, heavy polypeptide 1, skeletal muscle, adult"			6304733	Standard	NM_005963		Approved	MYHSA1, MYHa, MyHC-2X/D, MGC133384	uc002gmo.3	P12882	OTTHUMG00000130362	ENST00000226207.5:c.3235C>A	17.37:g.10405105G>T	ENSP00000226207:p.Gln1079Lys					CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	p.Q1079K	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN			25	3329	-			1079					Q14CA4|Q9Y622	Missense_Mutation	SNP	ENST00000226207.5	37	c.3235C>A	CCDS11155.1	.	.	.	.	.	.	.	.	.	.	G	25.7	4.669872	0.88348	.	.	ENSG00000109061	ENST00000226207	T	0.76578	-1.03	5.62	5.62	0.85841	Myosin tail (1);	0.000000	0.41294	U	0.000904	D	0.83571	0.5283	M	0.87682	2.9	0.80722	D	1	P	0.37158	0.585	B	0.39119	0.291	D	0.85296	0.1070	10	0.62326	D	0.03	.	20.0377	0.97569	0.0:0.0:1.0:0.0	.	1079	P12882	MYH1_HUMAN	K	1079	ENSP00000226207:Q1079K	ENSP00000226207:Q1079K	Q	-	1	0	MYH1	10345830	1.000000	0.71417	0.996000	0.52242	0.978000	0.69477	9.704000	0.98716	2.822000	0.97130	0.650000	0.86243	CAA		0.343	MYH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252725.1	NM_005963		11	78	1	0	0.000673444	0.361761	0.000723329	11	78					T	10405105	G	T	10405105	3	4	37	1	0	0	0	0	1	0	0	0	10029	1386	48	5	2648	5	MYH1	17	10405105	Missense_Mutation	SNP	G	TCGA-CH-5772-01A-11D-1576-08	1612582	10405105	70790105	72	2035											
SLFN5	162394	broad.mit.edu	37	chr17	33588030	33588030	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atggttctccagttgagtttGtcatctgccacgccccgcag	6	12	10	13	2	3	1	1	1	2	0	4	1	3	1	4	1	1	4	4	1	0	3			TCGA-CH-5772-01A-11D-1576-08	TCGA-CH-5772-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a94aed7-03d7-463d-bb87-bca2994f297d	87c4609d-4743-435b-8e1c-b5187a750224	g.chr17:33588030G>C	ENST00000299977.4	+	3	1201	c.1053G>C	c.(1051-1053)ttG>ttC	p.L351F	SLFN5_ENST00000542451.1_Missense_Mutation_p.L351F	NM_144975.3	NP_659412.3	Q08AF3	SLFN5_HUMAN	schlafen family member 5	351					cell differentiation (GO:0030154)	nucleus (GO:0005634)	ATP binding (GO:0005524)	p.L351F(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(8)|liver(2)|lung(6)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)	34		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0191)		AGTTGAGTTTGTCATCTGCCA	0.468																																						ENST00000299977.4																			1	Substitution - Missense(1)	p.L351F(1)	prostate(1)	breast(4)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(8)|liver(2)|lung(6)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)	34						c.(1051-1053)ttG>ttC		schlafen family member 5							193	177	183					17																	33588030		2203	4300	6503	SO:0001583	missense	162394				cell differentiation		ATP binding	g.chr17:33588030G>C	BX647942	CCDS32619.1	17q12	2006-04-05				ENSG00000166750			28286	protein-coding gene	gene with protein product		614952				9846487	Standard	NM_144975		Approved	MGC19764	uc002hjf.4	Q08AF3		ENST00000299977.4:c.1053G>C	17.37:g.33588030G>C	ENSP00000299977:p.Leu351Phe					SLFN5_ENST00000542451.1_Missense_Mutation_p.L351F	p.L351F	NM_144975.3	NP_659412.3	Q08AF3	SLFN5_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0191)	3	1201	+		Ovarian(249;0.17)	351					Q08AF2|Q8WU54|Q96A82	Missense_Mutation	SNP	ENST00000299977.4	37	c.1053G>C	CCDS32619.1	.	.	.	.	.	.	.	.	.	.	G	13.83	2.354641	0.41700	.	.	ENSG00000166750	ENST00000299977;ENST00000542451	T;T	0.60040	0.22;0.22	3.25	3.25	0.37280	.	0.807893	0.10049	N	0.722426	T	0.59838	0.2223	L	0.58810	1.83	0.40603	D	0.981605	D;P	0.54047	0.964;0.906	P;B	0.47941	0.562;0.443	T	0.62918	-0.6752	10	0.59425	D	0.04	.	10.1654	0.42877	0.0:0.0:1.0:0.0	.	351;351	B4E128;Q08AF3	.;SLFN5_HUMAN	F	351	ENSP00000299977:L351F;ENSP00000440537:L351F	ENSP00000299977:L351F	L	+	3	2	SLFN5	30612143	0.011000	0.17503	0.379000	0.26080	0.198000	0.23893	0.751000	0.26348	1.832000	0.53329	0.591000	0.81541	TTG		0.468	SLFN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448649.2	NM_144975		13	281	0	0	0	0.479597	0	13	281					C	33588030	G	C	33588030	3	2	37	1	0	0	0	0	1	0	0	0	14737	1368	48	5	1059	5	SLFN5	17	33588030	Missense_Mutation	SNP	G	TCGA-CH-5772-01A-11D-1576-08	23182925	33588030	47607180	73	2036											
RSAD1	55316	broad.mit.edu	37	chr17	48557076	48557076	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggctgccatgcagaagtgTctggtgaccgaagctcagac	10	7	14	10	1	2	3	1	1	1	2	2	5	2	3	2	2	3	3	2	2	2	0			TCGA-CH-5772-01A-11D-1576-08	TCGA-CH-5772-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a94aed7-03d7-463d-bb87-bca2994f297d	87c4609d-4743-435b-8e1c-b5187a750224	g.chr17:48557076T>C	ENST00000258955.2	+	2	307	c.222T>C	c.(220-222)tgT>tgC	p.C74C		NM_018346.1	NP_060816.1	Q9HA92	RSAD1_HUMAN	radical S-adenosyl methionine domain containing 1	74					porphyrin-containing compound biosynthetic process (GO:0006779)	mitochondrion (GO:0005739)	4 iron, 4 sulfur cluster binding (GO:0051539)|coproporphyrinogen oxidase activity (GO:0004109)|metal ion binding (GO:0046872)	p.C74C(1)		breast(1)|endometrium(4)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	16	Breast(11;1.93e-18)		BRCA - Breast invasive adenocarcinoma(22;1.55e-09)			TGCAGAAGTGTCTGGTGACCG	0.597											OREG0024566	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000258955.2																			1	Substitution - coding silent(1)	p.C74C(1)	prostate(1)	breast(1)|endometrium(4)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	16						c.(220-222)tgT>tgC		radical S-adenosyl methionine domain containing 1							56	61	60					17																	48557076		2203	4300	6503	SO:0001819	synonymous_variant	55316				porphyrin biosynthetic process	mitochondrion	4 iron, 4 sulfur cluster binding|coproporphyrinogen oxidase activity|metal ion binding	g.chr17:48557076T>C	AK002026	CCDS11569.1	17q21.33	2004-11-08			ENSG00000136444	ENSG00000136444			25634	protein-coding gene	gene with protein product						12477932	Standard	NM_018346		Approved	FLJ11164	uc002iqw.1	Q9HA92	OTTHUMG00000162126	ENST00000258955.2:c.222T>C	17.37:g.48557076T>C			OREG0024566	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	955		p.C74C	NM_018346.1	NP_060816.1	Q9HA92	RSAD1_HUMAN	BRCA - Breast invasive adenocarcinoma(22;1.55e-09)		2	307	+	Breast(11;1.93e-18)		74					B4DMW0|Q53HV8|Q86VC4|Q9BRY7|Q9NUS7	Silent	SNP	ENST00000258955.2	37	c.222T>C	CCDS11569.1																																																																																				0.597	RSAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367413.1	NM_018346		11	86	0	0	0	0.361761	0	11	86					C	48557076	T	C	48557076	2	2	37	1	0	0	0	0	0	0	0	1	13694	1673	58	4		4	RSAD1	17	48557076	Silent	SNP	T	TCGA-CH-5772-01A-11D-1576-08	14969046	48557076	32638134	74	2037											
LAMA1	284217	broad.mit.edu	37	chr18	7034620	7034620	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcaggcacaagtctaaccaCgtttaggtactcttcataag	12	12	7	10	1	4	0	2	0	2	0	4	0	4	0	1	2	2	3	1	2	5	7			TCGA-CH-5772-01A-11D-1576-08	TCGA-CH-5772-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a94aed7-03d7-463d-bb87-bca2994f297d	87c4609d-4743-435b-8e1c-b5187a750224	g.chr18:7034620C>T	ENST00000389658.3	-	14	2002	c.1909G>A	c.(1909-1911)Gtg>Atg	p.V637M		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	637	Laminin IV type A 1. {ECO:0000255|PROSITE-ProRule:PRU00458}.				axon guidance (GO:0007411)|branching involved in salivary gland morphogenesis (GO:0060445)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment of epithelial cell apical/basal polarity (GO:0045198)|extracellular matrix organization (GO:0030198)|morphogenesis of an epithelial sheet (GO:0002011)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|laminin-1 complex (GO:0005606)|laminin-3 complex (GO:0005608)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)	p.V637M(1)		NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)				AGTCTAACCACGTTTAGGTAC	0.408																																						ENST00000389658.3																			1	Substitution - Missense(1)	p.V637M(1)	prostate(1)	NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205						c.(1909-1911)Gtg>Atg		laminin, alpha 1	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						147	130	136					18																	7034620		2203	4300	6503	SO:0001583	missense	284217				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding	g.chr18:7034620C>T	X58531	CCDS32787.1	18p11.3	2013-03-01			ENSG00000101680	ENSG00000101680		"Laminins"	6481	protein-coding gene	gene with protein product		150320		LAMA		2591971	Standard	NM_005559		Approved		uc002knm.3	P25391	OTTHUMG00000133478	ENST00000389658.3:c.1909G>A	18.37:g.7034620C>T	ENSP00000374309:p.Val637Met						p.V637M	NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN			14	2002	-		Colorectal(10;0.172)	637			Laminin IV type A 1.			Missense_Mutation	SNP	ENST00000389658.3	37	c.1909G>A	CCDS32787.1	.	.	.	.	.	.	.	.	.	.	C	1.128	-0.653300	0.03480	.	.	ENSG00000101680	ENST00000389658	T	0.38722	1.12	5.9	2.2	0.27929	Laminin B type IV (2);Laminin B, subgroup (1);	0.716403	0.12888	N	0.430849	T	0.25232	0.0613	L	0.37850	1.14	0.09310	N	1	P	0.35807	0.522	B	0.23852	0.049	T	0.09729	-1.0661	10	0.36615	T	0.2	.	5.63	0.17506	0.155:0.5623:0.0:0.2828	.	637	P25391	LAMA1_HUMAN	M	637	ENSP00000374309:V637M	ENSP00000374309:V637M	V	-	1	0	LAMA1	7024620	0.000000	0.05858	0.262000	0.24481	0.001000	0.01503	-0.429000	0.06982	0.427000	0.26145	-0.748000	0.03510	GTG		0.408	LAMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257369.1	NM_005559		5	205	0	0	0	0.217242	0	5	205					T	7034620	C	T	7034620	3	4	37	1	0	0	0	0	1	0	0	0	8605	536	19	1	7518	1	LAMA1	18	7034620	Missense_Mutation	SNP	C	TCGA-CH-5772-01A-11D-1576-08		7034620	71042628	75	2038											
ATP5A1	498	broad.mit.edu	37	chr18	43668136	43668137	+	Frame_Shift_Ins	INS	-	-	T																															tcttttgaccaatagcaacaINStaaatacagtacagcttctt																										TCGA-CH-5772-01A-11D-1576-08	TCGA-CH-5772-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a94aed7-03d7-463d-bb87-bca2994f297d	87c4609d-4743-435b-8e1c-b5187a750224	g.chr18:43668136_43668137insT	ENST00000398752.6	-	6	858_859	c.737_738insA	c.(736-738)tatfs	p.Y246fs	ATP5A1_ENST00000282050.2_Frame_Shift_Ins_p.Y246fs|ATP5A1_ENST00000593152.2_Frame_Shift_Ins_p.Y196fs|ATP5A1_ENST00000590665.1_Frame_Shift_Ins_p.Y224fs	NM_001001935.2|NM_004046.5	NP_001001935.1|NP_004037.1	P25705	ATPA_HUMAN	ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit 1, cardiac muscle	246					ATP biosynthetic process (GO:0006754)|ATP catabolic process (GO:0006200)|ATP hydrolysis coupled proton transport (GO:0015991)|cellular metabolic process (GO:0044237)|embryo development (GO:0009790)|lipid metabolic process (GO:0006629)|mitochondrial ATP synthesis coupled proton transport (GO:0042776)|negative regulation of endothelial cell proliferation (GO:0001937)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial proton-transporting ATP synthase complex (GO:0005753)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|proton-transporting ATP synthase complex, catalytic core F(1) (GO:0045261)	ATP binding (GO:0005524)|MHC class I protein binding (GO:0042288)|poly(A) RNA binding (GO:0044822)|proton-transporting ATP synthase activity, rotational mechanism (GO:0046933)|proton-transporting ATPase activity, rotational mechanism (GO:0046961)|transmembrane transporter activity (GO:0022857)			breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(8)|skin(1)|urinary_tract(1)	22						CAATAGCAACATAAATACAGTA	0.347																																						ENST00000593152.2																			0				breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(8)|skin(1)|urinary_tract(1)	22						c.(586-588)tgtfs		ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit 1, cardiac muscle																																				SO:0001589	frameshift_variant	498				ATP hydrolysis coupled proton transport|embryo development|lipid metabolic process|negative regulation of endothelial cell proliferation|respiratory electron transport chain	mitochondrial matrix|plasma membrane	ATP binding|eukaryotic cell surface binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|MHC class I protein binding|proton-transporting ATPase activity, rotational mechanism	g.chr18:43668136_43668137insT	D14710	CCDS11927.1, CCDS58620.1, CCDS59315.1	18q21	2012-10-12	2006-01-13		ENSG00000152234	ENSG00000152234	3.6.1.14	"Mitochondrial respiratory chain complex / Complex V", "ATPases / F-type"	823	protein-coding gene	gene with protein product		164360	"ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit, isoform 2, non-cardiac muscle-like 2", "ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit, isoform 1, cardiac muscle"	ATP5AL2, ATPM		1830491	Standard	NM_001257334		Approved	ATP5A, hATP1, OMR, ORM	uc002lbr.2	P25705	OTTHUMG00000132637	ENST00000398752.6:c.738dupA	18.37:g.43668137_43668137dupT	ENSP00000381736:p.Tyr246fs					ATP5A1_ENST00000282050.2_Frame_Shift_Ins_p.C246fs|ATP5A1_ENST00000590665.1_Frame_Shift_Ins_p.C224fs|ATP5A1_ENST00000398752.6_Frame_Shift_Ins_p.C246fs	p.C196fs	NM_001257335.1	NP_001244264.1	P25705	ATPA_HUMAN			6	1126_1127	-			246					A8K092|B4DY56|K7ENP3|Q53XX6|Q8IXV2|Q96FB4|Q96HW2|Q96IR6|Q9BTV8	Frame_Shift_Ins	INS	ENST00000398752.6	37	c.587_588insA	CCDS11927.1																																																																																				0.347	ATP5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255884.1	NM_004046		43	229						43	229	---	---	---	---	T	43668137	-	T	43668136	7	5	37	1	0	1	1	0	0	0	0	0	1147	224	8	0	951	0	ATP5A1	18	43668136	Frame_Shift_Ins	INS	-	TCGA-CH-5772-01A-11D-1576-08	36633516	43668136	34409112	76	2039											
HOOK2	29911	broad.mit.edu	37	chr19	12878871	12878871	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atacttttcctccaggttgcGgcattcaaatagccatttct	9	15	6	11	1	2	0	1	0	1	0	4	0	4	0	3	2	3	2	3	2	3	7	rs369184380		TCGA-CH-5772-01A-11D-1576-08	TCGA-CH-5772-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a94aed7-03d7-463d-bb87-bca2994f297d	87c4609d-4743-435b-8e1c-b5187a750224	g.chr19:12878871G>A	ENST00000397668.3	-	12	1244	c.1171C>T	c.(1171-1173)Cgc>Tgc	p.R391C	HOOK2_ENST00000264827.5_Missense_Mutation_p.R391C|HOOK2_ENST00000589965.1_Intron	NM_013312.2	NP_037444.2	Q96ED9	HOOK2_HUMAN	hook microtubule-tethering protein 2	391	Sufficient for interaction with microtubules.				early endosome to late endosome transport (GO:0045022)|endocytosis (GO:0006897)|endosome organization (GO:0007032)|endosome to lysosome transport (GO:0008333)|lysosome organization (GO:0007040)|protein transport (GO:0015031)	centrosome (GO:0005813)|FHF complex (GO:0070695)|microtubule (GO:0005874)	identical protein binding (GO:0042802)	p.R391C(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(5)|skin(1)	20						TCCAGGTTGCGGCATTCAAAT	0.572																																						ENST00000264827.5																			1	Substitution - Missense(1)	p.R391C(1)	prostate(1)	breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(5)|skin(1)	20						c.(1171-1173)Cgc>Tgc		hook microtubule-tethering protein 2		G	CYS/ARG,CYS/ARG	0,3976		0,0,1988	153	157	156		1171,1171	4.3	1	19		156	1,8279		0,1,4139	no	missense,missense	HOOK2	NM_001100176.1,NM_013312.2	180,180	0,1,6127	AA,AG,GG		0.0121,0.0,0.0082	probably-damaging,probably-damaging	391/718,391/720	12878871	1,12255	1988	4140	6128	SO:0001583	missense	29911				early endosome to late endosome transport|endocytosis|endosome organization|endosome to lysosome transport|lysosome organization|microtubule cytoskeleton organization|protein transport	centrosome|FHF complex|microtubule	identical protein binding|microtubule binding	g.chr19:12878871G>A	AF044924	CCDS42507.1, CCDS42508.1	19p13.2	2013-08-21	2013-08-21						19885	protein-coding gene	gene with protein product		607824	"hook homolog 2 (Drosophila)"			9927460	Standard	NM_013312		Approved	HK2	uc002muy.2	Q96ED9		ENST00000397668.3:c.1171C>T	19.37:g.12878871G>A	ENSP00000380785:p.Arg391Cys					HOOK2_ENST00000397668.3_Missense_Mutation_p.R391C|HOOK2_ENST00000589965.1_Intron	p.R391C	NM_001100176.1	NP_001093646.1	Q96ED9	HOOK2_HUMAN			12	1341	-			391			Sufficient for interaction with microtubules.		O60562	Missense_Mutation	SNP	ENST00000397668.3	37	c.1171C>T	CCDS42508.1	.	.	.	.	.	.	.	.	.	.	G	17.11	3.306389	0.60305	0.0	1.21E-4	ENSG00000095066	ENST00000397668;ENST00000264827	T;T	0.19394	2.15;2.15	5.36	4.28	0.50868	.	0.450837	0.23777	N	0.044679	T	0.37320	0.0999	L	0.59436	1.845	0.34414	D	0.696758	D;D	0.76494	0.998;0.999	P;P	0.60173	0.795;0.87	T	0.52139	-0.8615	10	0.87932	D	0	-9.3369	12.9698	0.58505	0.0:0.0:0.7247:0.2753	.	391;391	Q96ED9-2;Q96ED9	.;HOOK2_HUMAN	C	391	ENSP00000380785:R391C;ENSP00000264827:R391C	ENSP00000264827:R391C	R	-	1	0	HOOK2	12739871	0.160000	0.22878	0.998000	0.56505	0.845000	0.48019	1.209000	0.32357	2.515000	0.84797	0.456000	0.33151	CGC		0.572	HOOK2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000451008.1	NM_013312		5	281	0	0	0	0.184627	0	5	281					A	12878871	G	A	12878871	3	1	37	1	0	0	0	0	1	0	0	0	7283	1116	39	2	1036	2	HOOK2	19	12878871	Missense_Mutation	SNP	G	TCGA-CH-5772-01A-11D-1576-08		12878871	46250112	77	2040											
ZNF208	7757	broad.mit.edu	37	chr19	22154452	22154452	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgaattaccttatgtttagtAaggattgagaacgtactaaa	15	14	8	4	1	0	2	0	2	0	1	0	4	0	3	1	1	3	3	1	1	9	8			TCGA-CH-5772-01A-11D-1576-08	TCGA-CH-5772-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a94aed7-03d7-463d-bb87-bca2994f297d	87c4609d-4743-435b-8e1c-b5187a750224	g.chr19:22154452A>G	ENST00000397126.4	-	4	3532	c.3384T>C	c.(3382-3384)ctT>ctC	p.L1128L	ZNF208_ENST00000601773.1_Intron|ZNF208_ENST00000599916.1_Intron	NM_007153.3	NP_009084.2	O43345	ZN208_HUMAN	zinc finger protein 208	1128					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.L1000L(2)|p.L1128L(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				TATGTTTAGTAAGGATTGAGA	0.373																																						ENST00000397126.4																			3	Substitution - coding silent(3)	p.L1000L(2)|p.L1128L(1)	lung(3)	breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113						c.(3382-3384)ctT>ctC		zinc finger protein 208							57	61	60					19																	22154452		2123	4245	6368	SO:0001819	synonymous_variant	7757							g.chr19:22154452A>G	BC038199	CCDS54240.1	19p12	2013-01-08				ENSG00000160321		"Zinc fingers, C2H2-type", "-"	12999	protein-coding gene	gene with protein product	"zinc finger protein 95"	603977				9724325	Standard	NM_007153		Approved	PMIDP, ZNF95	uc021urr.1	O43345		ENST00000397126.4:c.3384T>C	19.37:g.22154452A>G						ZNF208_ENST00000599916.1_Intron|ZNF208_ENST00000601773.1_Intron	p.L1128L	NM_007153.3	NP_009084.2					4	3532	-		all_lung(12;0.0961)|Lung NSC(12;0.103)							Silent	SNP	ENST00000397126.4	37	c.3384T>C	CCDS54240.1																																																																																				0.373	ZNF208-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464302.1	NM_007153		4	190	0	0	0	0.150653	0	4	190					G	22154452	A	G	22154452	2	3	37	1	0	0	0	0	0	0	0	1	17763	349	13	4		4	ZNF208	19	22154452	Silent	SNP	A	TCGA-CH-5772-01A-11D-1576-08	9275581	22154452	36974531	78	2041											
SIPA1L3	23094	broad.mit.edu	37	chr19	38572844	38572844	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccatcgacgtgcagggcatGcccgagcagagcttcttcga	8	8	12	13	4	1	1	0	0	1	1	4	4	2	1	2	1	4	4	2	1	0	2			TCGA-CH-5772-01A-11D-1576-08	TCGA-CH-5772-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a94aed7-03d7-463d-bb87-bca2994f297d	87c4609d-4743-435b-8e1c-b5187a750224	g.chr19:38572844G>T	ENST00000222345.6	+	3	1148	c.639G>T	c.(637-639)atG>atT	p.M213I		NM_015073.1	NP_055888.1	O60292	SI1L3_HUMAN	signal-induced proliferation-associated 1 like 3	213					hematopoietic progenitor cell differentiation (GO:0002244)|regulation of small GTPase mediated signal transduction (GO:0051056)	extracellular space (GO:0005615)	GTPase activator activity (GO:0005096)	p.M213I(1)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			TGCAGGGCATGCCCGAGCAGA	0.721																																						ENST00000222345.6																			1	Substitution - Missense(1)	p.M213I(1)	prostate(1)	NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59						c.(637-639)atG>atT		signal-induced proliferation-associated 1 like 3							38	35	36					19																	38572844		2160	4228	6388	SO:0001583	missense	23094				regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity	g.chr19:38572844G>T	AB011117	CCDS33007.1	19q13.13	2008-02-05			ENSG00000105738	ENSG00000105738			23801	protein-coding gene	gene with protein product							Standard	XM_005258671		Approved	KIAA0545	uc002ohk.3	O60292	OTTHUMG00000073727	ENST00000222345.6:c.639G>T	19.37:g.38572844G>T	ENSP00000222345:p.Met213Ile						p.M213I	NM_015073.1	NP_055888.1	O60292	SI1L3_HUMAN	Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)		3	1148	+			213					Q2TV87	Missense_Mutation	SNP	ENST00000222345.6	37	c.639G>T	CCDS33007.1	.	.	.	.	.	.	.	.	.	.	G	4.278	0.050821	0.08243	.	.	ENSG00000105738	ENST00000222345	T	0.73897	-0.79	5.48	-0.625	0.11548	.	0.388001	0.26507	N	0.023988	T	0.38931	0.1059	N	0.03608	-0.345	0.24392	N	0.994741	B	0.02656	0.0	B	0.01281	0.0	T	0.12293	-1.0553	10	0.16420	T	0.52	-10.2456	0.9076	0.01288	0.1846:0.2796:0.2984:0.2374	.	213	O60292	SI1L3_HUMAN	I	213	ENSP00000222345:M213I	ENSP00000222345:M213I	M	+	3	0	SIPA1L3	43264684	0.000000	0.05858	0.859000	0.33776	0.183000	0.23260	-0.703000	0.05063	0.279000	0.22186	-1.138000	0.01928	ATG		0.721	SIPA1L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000156294.2	XM_032278		4	148	1	0	1.23904e-05	0.184627	1.35593e-05	4	148					T	38572844	G	T	38572844	3	4	37	1	0	0	0	0	1	0	0	0	14331	1319	46	5	641	5	SIPA1L3	19	38572844	Missense_Mutation	SNP	G	TCGA-CH-5772-01A-11D-1576-08	16418392	38572844	20556139	79	2042											
NKPD1	284353	broad.mit.edu	37	chr19	45656261	45656261	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcgtggctgtcggacagcagCgtgttgatggcgttgagcac	6	9	17	9	4	0	2	0	2	0	0	1	3	0	3	0	3	3	5	0	3	0	2			TCGA-CH-5772-01A-11D-1576-08	TCGA-CH-5772-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a94aed7-03d7-463d-bb87-bca2994f297d	87c4609d-4743-435b-8e1c-b5187a750224	g.chr19:45656261C>A	ENST00000438936.2	-	3	979	c.768G>T	c.(766-768)acG>acT	p.T256T	NKPD1_ENST00000589776.1_Silent_p.T256T|AC005757.7_ENST00000589594.1_lincRNA|NKPD1_ENST00000429338.1_Silent_p.T256T|NKPD1_ENST00000317951.4_Silent_p.T478T			Q17RQ9	NKPD1_HUMAN	NTPase, KAP family P-loop domain containing 1	256	KAP NTPase.					integral component of membrane (GO:0016021)		p.T256T(1)		endometrium(1)|lung(4)|prostate(2)|urinary_tract(1)	8		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00863)|GBM - Glioblastoma multiforme(486;0.231)		CGGACAGCAGCGTGTTGATGG	0.672																																						ENST00000317951.4																			1	Substitution - coding silent(1)	p.T256T(1)	prostate(1)	endometrium(1)|lung(4)|prostate(2)|urinary_tract(1)	8						c.(1432-1434)acG>acT		NTPase, KAP family P-loop domain containing 1							11	13	12					19																	45656261		2140	4230	6370	SO:0001819	synonymous_variant	284353							g.chr19:45656261C>A	AK090919		19q13.32	2012-07-02		2012-07-02	ENSG00000179846	ENSG00000179846			24739	protein-coding gene	gene with protein product						14702039	Standard	NM_198478		Approved	FLJ33600	uc010xxi.2	Q17RQ9	OTTHUMG00000160521	ENST00000438936.2:c.768G>T	19.37:g.45656261C>A						NKPD1_ENST00000438936.2_Silent_p.T256T|NKPD1_ENST00000589776.1_Silent_p.T256T|NKPD1_ENST00000429338.1_Silent_p.T256T	p.T478T	NM_198478.3	NP_940880.3				OV - Ovarian serous cystadenocarcinoma(262;0.00863)|GBM - Glioblastoma multiforme(486;0.231)	4	1433	-		Ovarian(192;0.0728)|all_neural(266;0.112)						B7ZLG6|D6RH15|Q8N2A2	Silent	SNP	ENST00000438936.2	37	c.1434G>T																																																																																					0.672	NKPD1-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000360950.2	NM_198478		3	12	1	0	0.115264	0.115264	0.118324	3	12					A	45656261	C	A	45656261	2	1	37	1	0	0	0	0	0	0	0	1	10446	755	27	5		5	NKPD1	19	45656261	Silent	SNP	C	TCGA-CH-5772-01A-11D-1576-08	7083417	45656261	13472722	80	2043											
ARHGAP35	2909	broad.mit.edu	37	chr19	47423299	47423299	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaagccttgggaagaggcccGtagttttattatgaatgagg	12	11	13	5	1	0	3	0	2	0	1	0	4	0	4	2	3	1	2	2	3	6	5			TCGA-CH-5772-01A-11D-1576-08	TCGA-CH-5772-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a94aed7-03d7-463d-bb87-bca2994f297d	87c4609d-4743-435b-8e1c-b5187a750224	g.chr19:47423299G>A	ENST00000404338.3	+	1	1367	c.1367G>A	c.(1366-1368)cGt>cAt	p.R456H		NM_004491.4	NP_004482.4	Q9NRY4	RHG35_HUMAN	Rho GTPase activating protein 35	456	FF 3.				axon guidance (GO:0007411)|camera-type eye development (GO:0043010)|forebrain development (GO:0030900)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of vascular permeability (GO:0043116)|neural tube closure (GO:0001843)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|transcription, DNA-templated (GO:0006351)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|nucleus (GO:0005634)	DNA binding (GO:0003677)|GTP binding (GO:0005525)|Rho GTPase activator activity (GO:0005100)|transcription corepressor activity (GO:0003714)	p.R456H(3)									GAAGAGGCCCGTAGTTTTATT	0.413																																						ENST00000404338.3																			3	Substitution - Missense(3)	p.R456H(3)	prostate(3)								c.(1366-1368)cGt>cAt		Rho GTPase activating protein 35							32	32	32					19																	47423299		1827	4074	5901	SO:0001583	missense	2909				axon guidance|negative regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent	cytosol	DNA binding|Rho GTPase activator activity|transcription corepressor activity	g.chr19:47423299G>A	M73077	CCDS46127.1	19q13.32	2011-06-29	2011-06-07	2011-06-07	ENSG00000160007	ENSG00000160007		"Rho GTPase activating proteins"	4591	protein-coding gene	gene with protein product		605277	"glucocorticoid receptor DNA binding factor 1"	GRLF1		1894621, 20675588	Standard	NM_004491		Approved	GRF-1, p190ARhoGAP, P190A, KIAA1722, p190RhoGAP	uc010ekv.3	Q9NRY4		ENST00000404338.3:c.1367G>A	19.37:g.47423299G>A	ENSP00000385720:p.Arg456His						p.R456H	NM_004491.4	NP_004482.4	Q9NRY4	RHG35_HUMAN			1	1367	+			456			FF 3.		A7E2A4|Q14452|Q9C0E1	Missense_Mutation	SNP	ENST00000404338.3	37	c.1367G>A	CCDS46127.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.050238	0.75846	.	.	ENSG00000160007	ENST00000317082;ENST00000501576;ENST00000404338	T	0.08896	3.04	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	T	0.18676	0.0448	L	0.58669	1.825	0.80722	D	1	D	0.58970	0.984	P	0.50231	0.635	T	0.00036	-1.2256	10	0.45353	T	0.12	-23.2559	19.1646	0.93551	0.0:0.0:1.0:0.0	.	456	Q9NRY4-2	.	H	456	ENSP00000385720:R456H	ENSP00000324820:R456H	R	+	2	0	ARHGAP35	52115139	1.000000	0.71417	0.993000	0.49108	0.997000	0.91878	5.828000	0.69307	2.824000	0.97209	0.655000	0.94253	CGT		0.413	ARHGAP35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466652.1	NM_004491		4	73	0	0	0	0.150653	0	4	73					A	47423299	G	A	47423299	3	1	37	1	0	0	0	0	1	0	0	0	6795	1145	40	1	1369	1	ARHGAP35	19	47423299	Missense_Mutation	SNP	G	TCGA-CH-5772-01A-11D-1576-08	1767038	47423299	11705684	81	2044											
DHX34	9704	broad.mit.edu	37	chr19	47876082	47876082	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtcgcccttcacccgcagcGcccagagcagcccagagtgc	8	4	11	18	3	1	2	1	0	0	2	2	2	1	2	4	0	4	2	4	0	0	1	rs146830596	byFrequency	TCGA-CH-5772-01A-11D-1576-08	TCGA-CH-5772-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a94aed7-03d7-463d-bb87-bca2994f297d	87c4609d-4743-435b-8e1c-b5187a750224	g.chr19:47876082G>A	ENST00000328771.4	+	8	2213	c.1864G>A	c.(1864-1866)Gcc>Acc	p.A622T		NM_014681.5	NP_055496.2	Q14147	DHX34_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 34	622					negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:2000623)|nuclear-transcribed mRNA catabolic process (GO:0000956)	membrane (GO:0016020)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)	p.A622T(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(5)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		all cancers(93;7.16e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000489)|GBM - Glioblastoma multiforme(486;0.00413)|Epithelial(262;0.0132)		CACCCGCAGCGCCCAGAGCAG	0.657																																						ENST00000328771.4																			1	Substitution - Missense(1)	p.A622T(1)	prostate(1)	breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(5)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(1864-1866)Gcc>Acc		DEAH (Asp-Glu-Ala-His) box polypeptide 34		G	THR/ALA	1,4405	2.1+/-5.4	0,1,2202	38	37	37		1864	5.4	1	19	dbSNP_134	37	2,8598	2.2+/-6.3	0,2,4298	no	missense	DHX34	NM_014681.5	58	0,3,6500	AA,AG,GG		0.0233,0.0227,0.0231	benign	622/1144	47876082	3,13003	2203	4300	6503	SO:0001583	missense	9704					intracellular	ATP binding|ATP-dependent helicase activity|RNA binding|zinc ion binding	g.chr19:47876082G>A	D50924	CCDS12700.1	19q13.3	2003-06-13	2003-06-13	2003-06-13	ENSG00000134815	ENSG00000134815		"DEAH-boxes"	16719	protein-coding gene	gene with protein product		615475	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 34"	DDX34		10708517, 8590280	Standard	NM_014681		Approved	KIAA0134	uc010xyn.2	Q14147	OTTHUMG00000149959	ENST00000328771.4:c.1864G>A	19.37:g.47876082G>A	ENSP00000331907:p.Ala622Thr						p.A622T	NM_014681.5	NP_055496.2	Q14147	DHX34_HUMAN		all cancers(93;7.16e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000489)|GBM - Glioblastoma multiforme(486;0.00413)|Epithelial(262;0.0132)	8	2213	+		all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)	622					B4DMY8	Missense_Mutation	SNP	ENST00000328771.4	37	c.1864G>A	CCDS12700.1	.	.	.	.	.	.	.	.	.	.	G	16.09	3.023835	0.54683	2.27E-4	2.33E-4	ENSG00000134815	ENST00000328771;ENST00000257252	T	0.02606	4.23	5.45	5.45	0.79879	Helicase-associated domain (2);	0.103370	0.42294	D	0.000726	T	0.04227	0.0117	L	0.46885	1.475	0.44595	D	0.997564	B	0.24043	0.096	B	0.19391	0.025	T	0.34601	-0.9822	10	0.66056	D	0.02	-24.8363	13.0622	0.59014	0.0:0.0:0.8389:0.1611	.	622	Q14147	DHX34_HUMAN	T	622;537	ENSP00000331907:A622T	ENSP00000257252:A537T	A	+	1	0	DHX34	52567896	0.970000	0.33590	0.992000	0.48379	0.774000	0.43823	2.339000	0.43965	2.554000	0.86153	0.655000	0.94253	GCC		0.657	DHX34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314313.3	NM_014681		10	68	0	0	0	0.361761	0	10	68					A	47876082	G	A	47876082	3	1	37	1	0	0	0	0	1	0	0	0	4507	1087	38	1	1890	1	DHX34	19	47876082	Missense_Mutation	SNP	G	TCGA-CH-5772-01A-11D-1576-08	452783	47876082	11252901	82	2045											
NLRP4	147945	broad.mit.edu	37	chr19	56369349	56369349	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagagaactgagggagttgcCgccaacgagtttggctgact	10	8	14	9	2	0	3	0	2	0	1	0	6	0	4	2	2	3	3	2	2	2	2			TCGA-CH-5772-01A-11D-1576-08	TCGA-CH-5772-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a94aed7-03d7-463d-bb87-bca2994f297d	87c4609d-4743-435b-8e1c-b5187a750224	g.chr19:56369349C>T	ENST00000301295.6	+	3	1012	c.590C>T	c.(589-591)cCg>cTg	p.P197L	NLRP4_ENST00000587891.1_Missense_Mutation_p.P122L|NLRP4_ENST00000346986.5_Missense_Mutation_p.P197L	NM_134444.4	NP_604393.2	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	197	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of type I interferon production (GO:0032481)|regulation of type I interferon production (GO:0032479)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)	p.P197L(1)		breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		AGGGAGTTGCCGCCAACGAGT	0.517																																						ENST00000301295.6																			1	Substitution - Missense(1)	p.P197L(1)	prostate(1)	breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42						c.(589-591)cCg>cTg		NLR family, pyrin domain containing 4							101	102	101					19																	56369349		2203	4300	6503	SO:0001583	missense	147945						ATP binding	g.chr19:56369349C>T	AF479747	CCDS12936.1	19q13.43	2009-03-27	2006-12-08	2006-12-08				"Nucleotide-binding domain and leucine rich repeat containing"	22943	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 4", "cancer/testis antigen 58"	609645	"NACHT, leucine rich repeat and PYD containing 4"	NALP4		12563287, 12019269	Standard	NM_134444		Approved	PYPAF4, FLJ32126, PAN2, RNH2, CLR19.5, CT58	uc002qmd.4	Q96MN2		ENST00000301295.6:c.590C>T	19.37:g.56369349C>T	ENSP00000301295:p.Pro197Leu					NLRP4_ENST00000587891.1_Missense_Mutation_p.P122L|NLRP4_ENST00000346986.5_Missense_Mutation_p.P197L	p.P197L	NM_134444.4	NP_604393.2	Q96MN2	NALP4_HUMAN		GBM - Glioblastoma multiforme(193;0.0606)	3	1012	+		Colorectal(82;0.0002)|Ovarian(87;0.221)	197			NACHT.		Q86W87|Q96AY6	Missense_Mutation	SNP	ENST00000301295.6	37	c.590C>T	CCDS12936.1	.	.	.	.	.	.	.	.	.	.	C	9.566	1.119734	0.20877	.	.	ENSG00000160505	ENST00000301295;ENST00000346986	T;T	0.78364	-1.17;-1.17	3.71	0.128	0.14733	NACHT nucleoside triphosphatase (1);	.	.	.	.	T	0.45458	0.1343	N	0.02539	-0.55	0.09310	N	1	P;P;P	0.43519	0.609;0.809;0.676	B;B;B	0.32393	0.145;0.119;0.102	T	0.41215	-0.9521	9	0.45353	T	0.12	.	6.929	0.24432	0.5202:0.3207:0.1591:0.0	.	197;122;197	Q96MN2-2;Q96MN2-3;Q96MN2	.;.;NALP4_HUMAN	L	197	ENSP00000301295:P197L;ENSP00000344787:P197L	ENSP00000301295:P197L	P	+	2	0	NLRP4	61061161	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.015000	0.03637	0.116000	0.18110	-0.182000	0.12963	CCG		0.517	NLRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457367.2	NM_134444		89	103	0	0	0	0.870114	0	89	103					T	56369349	C	T	56369349	3	4	37	1	0	0	0	0	1	0	0	0	10479	652	23	2	596	2	NLRP4	19	56369349	Missense_Mutation	SNP	C	TCGA-CH-5772-01A-11D-1576-08	8493267	56369349	2759634	83	2046											
ZNF835	90485	broad.mit.edu	37	chr19	57175472	57175472	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgaagcgcttgccgcagtcGtggcaggggtaaggccgctc	6	7	16	12	4	0	1	0	1	0	0	2	1	0	1	2	4	2	5	2	4	2	2			TCGA-CH-5772-01A-11D-1576-08	TCGA-CH-5772-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a94aed7-03d7-463d-bb87-bca2994f297d	87c4609d-4743-435b-8e1c-b5187a750224	g.chr19:57175472G>A	ENST00000537055.2	-	2	1326	c.1095C>T	c.(1093-1095)caC>caT	p.H365H		NM_001005850.2	NP_001005850.2	Q9Y2P0	ZN835_HUMAN	zinc finger protein 835	365					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.H387H(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(22)|pancreas(3)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	47						TGCCGCAGTCGTGGCAGGGGT	0.701																																						ENST00000537055.2																			1	Substitution - coding silent(1)	p.H387H(1)	prostate(1)	endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(22)|pancreas(3)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	47						c.(1093-1095)caC>caT		zinc finger protein 835							21	22	22					19																	57175472		2200	4296	6496	SO:0001819	synonymous_variant	90485							g.chr19:57175472G>A	AK023017	CCDS56105.1	19q13.43	2013-01-08			ENSG00000127903	ENSG00000127903		"Zinc fingers, C2H2-type"	34332	protein-coding gene	gene with protein product							Standard	NM_001005850		Approved	BC37295_3	uc010ygn.2	Q9Y2P0		ENST00000537055.2:c.1095C>T	19.37:g.57175472G>A							p.H365H	NM_001005850.2	NP_001005850.2					2	1326	-								B7Z5Y0|G3V1S0	Silent	SNP	ENST00000537055.2	37	c.1095C>T	CCDS56105.1																																																																																				0.701	ZNF835-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459800.1	NM_001005850		4	39	0	0	0	0.184627	0	4	39					A	57175472	G	A	57175472	2	1	37	1	0	0	0	0	0	0	0	1	18183	1136	40	1		1	ZNF835	19	57175472	Silent	SNP	G	TCGA-CH-5772-01A-11D-1576-08	806123	57175472	1953511	84	2047											
C20orf114	92747	broad.mit.edu	37	chr20	31890815	31890815	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aaggccatgccaaggtggccCaactgatcgtgctggaagtg	10	7	14	10	1	0	1	0	1	0	0	1	2	0	2	3	4	3	1	3	4	4	0			TCGA-CH-5772-01A-11D-1576-08	TCGA-CH-5772-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a94aed7-03d7-463d-bb87-bca2994f297d	87c4609d-4743-435b-8e1c-b5187a750224	g.chr20:31890815C>A	ENST00000253354.1	+	11	1236	c.1075C>A	c.(1075-1077)Caa>Aaa	p.Q359K	BPIFB1_ENST00000464032.1_3'UTR	NM_033197.2	NP_149974.2	Q8TDL5	BPIB1_HUMAN	BPI fold containing family B, member 1	359					innate immune response in mucosa (GO:0002227)|negative regulation of toll-like receptor 4 signaling pathway (GO:0034144)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	lipid binding (GO:0008289)	p.Q359K(1)									CAAGGTGGCCCAACTGATCGT	0.532																																						ENST00000253354.1																			1	Substitution - Missense(1)	p.Q359K(1)	prostate(1)								c.(1075-1077)Caa>Aaa		BPI fold containing family B, member 1							129	108	115					20																	31890815		2203	4300	6503	SO:0001583	missense	92747					extracellular space	lipid binding	g.chr20:31890815C>A	BC008429	CCDS13218.1	20q11.21	2011-08-04	2011-07-29	2011-07-29	ENSG00000125999	ENSG00000125999		"BPI fold containing"	16108	protein-coding gene	gene with protein product	"von Ebner minor salivary gland protein"		"chromosome 20 open reading frame 114"	C20orf114		11971875, 21787333	Standard	NM_033197		Approved	dJ1187J4.1, MGC14597, bA49G10.6, LPLUNC1, VEMSGP	uc002wyw.1	Q8TDL5	OTTHUMG00000032252	ENST00000253354.1:c.1075C>A	20.37:g.31890815C>A	ENSP00000253354:p.Gln359Lys					BPIFB1_ENST00000464032.1_3'UTR	p.Q359K	NM_033197.2	NP_149974.2	Q8TDL5	LPLC1_HUMAN			11	1236	+			359					A8K2H8|Q5QP43|Q6UWY1|Q6ZRU7|Q96HK6|Q9BQP8|Q9BWZ6|Q9H4V6	Missense_Mutation	SNP	ENST00000253354.1	37	c.1075C>A	CCDS13218.1	.	.	.	.	.	.	.	.	.	.	C	15.32	2.798128	0.50208	.	.	ENSG00000125999	ENST00000253354	T	0.06849	3.25	5.28	5.28	0.74379	.	0.000000	0.64402	D	0.000008	T	0.26955	0.0660	M	0.72894	2.215	0.35214	D	0.775382	D	0.76494	0.999	D	0.74674	0.984	T	0.10382	-1.0632	10	0.49607	T	0.09	-15.0282	14.2728	0.66162	0.0:1.0:0.0:0.0	.	359	Q8TDL5	BPIB1_HUMAN	K	359	ENSP00000253354:Q359K	ENSP00000253354:Q359K	Q	+	1	0	BPIFB1	31354476	1.000000	0.71417	0.948000	0.38648	0.031000	0.12232	3.320000	0.51991	2.747000	0.94245	0.462000	0.41574	CAA		0.532	BPIFB1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106499.2	NM_033197		23	76	1	0	1.64293e-13	0.654019	1.88693e-13	23	76					A	31890815	C	A	31890815	3	1	37	1	0	0	0	0	1	0	0	0	2082	595	21	5	1113	5	C20orf114	20	31890815	Missense_Mutation	SNP	C	TCGA-CH-5772-01A-11D-1576-08		31890815	31134705	85	2048											
CDH22	64405	broad.mit.edu	37	chr20	44869813	44869813	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaatgtcgcctgtcagctcGtcgatcaggaagatggtccc	8	10	12	11	3	2	2	2	1	0	1	6	4	3	3	2	2	1	1	2	2	2	0			TCGA-CH-5772-01A-11D-1576-08	TCGA-CH-5772-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a94aed7-03d7-463d-bb87-bca2994f297d	87c4609d-4743-435b-8e1c-b5187a750224	g.chr20:44869813G>A	ENST00000372262.3	-	2	739	c.339C>T	c.(337-339)gaC>gaT	p.D113D	CDH22_ENST00000537909.1_Silent_p.D113D	NM_021248.1	NP_067071.1	Q9UJ99	CAD22_HUMAN	cadherin 22, type 2	113	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				brain development (GO:0007420)|calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.D113D(1)		endometrium(3)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	44		Myeloproliferative disorder(115;0.0122)				CTGTCAGCTCGTCGATCAGGA	0.627																																						ENST00000372262.3																			1	Substitution - coding silent(1)	p.D113D(1)	prostate(1)	endometrium(3)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	44						c.(337-339)gaC>gaT		cadherin 22, type 2							78	67	70					20																	44869813		2203	4300	6503	SO:0001819	synonymous_variant	64405				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr20:44869813G>A	AF035300	CCDS13395.1	20q13.1	2010-01-26	2009-11-20		ENSG00000149654	ENSG00000149654		"Cadherins / Major cadherins"	13251	protein-coding gene	gene with protein product		609920	"cadherin-like 22"	C20orf25		8626716	Standard	NM_021248		Approved	dJ998H6.1	uc010ghk.2	Q9UJ99	OTTHUMG00000033073	ENST00000372262.3:c.339C>T	20.37:g.44869813G>A						CDH22_ENST00000537909.1_Silent_p.D113D	p.D113D	NM_021248.1	NP_067071.1	Q9UJ99	CAD22_HUMAN			2	739	-		Myeloproliferative disorder(115;0.0122)	113			Cadherin 1.		B9EGK7|O43205	Silent	SNP	ENST00000372262.3	37	c.339C>T	CCDS13395.1																																																																																				0.627	CDH22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080491.1	NM_021248		7	43	0	0	0	0.27861	0	7	43					A	44869813	G	A	44869813	2	1	37	1	0	0	0	0	0	0	0	1	3107	1136	40	1		1	CDH22	20	44869813	Silent	SNP	G	TCGA-CH-5772-01A-11D-1576-08	12978998	44869813	18155707	86	2049											
POTED	317754	broad.mit.edu	37	chr21	15011886	15011886	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ttctgaagaacagaacactgGaatatcacaagatgagattc	17	9	8	7	0	2	5	1	2	1	4	3	7	2	6	0	1	2	0	0	1	6	3	rs562875736	byFrequency	TCGA-CH-5772-01A-11D-1576-08	TCGA-CH-5772-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a94aed7-03d7-463d-bb87-bca2994f297d	87c4609d-4743-435b-8e1c-b5187a750224	g.chr21:15011886G>A	ENST00000299443.5	+	10	1512	c.1460G>A	c.(1459-1461)gGa>gAa	p.G487E		NM_174981.3|NM_207355.2	NP_778146.2|NP_997238.2	Q86YR6	POTED_HUMAN	POTE ankyrin domain family, member D	487						plasma membrane (GO:0005886)		p.G487E(1)		central_nervous_system(1)|large_intestine(10)|liver(2)|lung(8)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(1)	33						CAGAACACTGGAATATCACAA	0.323													g|||	225	0.0449281	0.1067	0.0101	5008	,	,		5566	0.0486		0.0189	False		,,,				2504	0.0092					ENST00000299443.5																			1	Substitution - Missense(1)	p.G487E(1)	prostate(1)	central_nervous_system(1)|large_intestine(10)|liver(2)|lung(8)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(1)	33						c.(1459-1461)gGa>gAa		POTE ankyrin domain family, member D							9	15	13					21																	15011886		951	3208	4159	SO:0001583	missense	317754					plasma membrane		g.chr21:15011886G>A	AY172978	CCDS13562.1	21q11.2	2013-01-10	2008-11-26	2008-11-26	ENSG00000166351	ENSG00000166351		"POTE ankyrin domain containing", "Ankyrin repeat domain containing"	23822	protein-coding gene	gene with protein product	"cancer/testis antigen family 104, member 1"	607549	"ankyrin repeat domain 21", "ANKRD26-like family B, member 3"	ANKRD21, A26B3		12475935, 15276201, 16364570	Standard	NM_174981		Approved	POTE, POTE-21, POTE21, CT104.1	uc002yjb.1	Q86YR6	OTTHUMG00000074197	ENST00000299443.5:c.1460G>A	21.37:g.15011886G>A	ENSP00000299443:p.Gly487Glu						p.G487E	NM_174981.3|NM_207355.2	NP_778146.2|NP_997238.2	Q86YR6	POTED_HUMAN			10	1512	+			487					C9JCF7	Missense_Mutation	SNP	ENST00000299443.5	37	c.1460G>A	CCDS13562.1	.	.	.	.	.	.	.	.	.	.	G	0.005	-2.214319	0.00289	.	.	ENSG00000166351	ENST00000299443	T	0.23950	1.88	1.71	0.761	0.18448	.	.	.	.	.	T	0.11067	0.0270	L	0.40543	1.245	0.09310	N	1	P	0.41232	0.743	B	0.26693	0.072	T	0.20273	-1.0280	9	0.06099	T	0.92	.	4.2377	0.10634	0.2306:0.0:0.7694:0.0	.	487	Q86YR6	POTED_HUMAN	E	487	ENSP00000299443:G487E	ENSP00000299443:G487E	G	+	2	0	POTED	13933757	0.998000	0.40836	0.007000	0.13788	0.000000	0.00434	3.609000	0.54117	0.082000	0.17018	-0.489000	0.04712	GGA		0.323	POTED-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157660.1	NM_174981		3	66	0	0	0	0.307466	0	3	66					A	15011886	G	A	15011886	3	1	37	1	0	0	0	0	1	0	0	0	12263	1174	41	3	1498	3	POTED	21	15011886	Missense_Mutation	SNP	G	TCGA-CH-5772-01A-11D-1576-08		15011886	33118009	87	2050											
SEZ6L	23544	broad.mit.edu	37	chr22	26701985	26701985	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacaatgccaccatcggccgCgtcctctccccaagttaccc	8	7	6	20	3	1	0	0	0	1	0	4	0	2	0	7	1	2	1	7	1	3	1			TCGA-CH-5772-01A-11D-1576-08	TCGA-CH-5772-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a94aed7-03d7-463d-bb87-bca2994f297d	87c4609d-4743-435b-8e1c-b5187a750224	g.chr22:26701985C>T	ENST00000248933.6	+	6	1484	c.1389C>T	c.(1387-1389)cgC>cgT	p.R463R	SEZ6L_ENST00000404234.3_Silent_p.R463R|SEZ6L_ENST00000360929.3_Silent_p.R463R|SEZ6L_ENST00000343706.4_Silent_p.R463R|SEZ6L_ENST00000402979.1_Silent_p.R236R|SEZ6L_ENST00000529632.2_Silent_p.R463R|SEZ6L_ENST00000403121.1_Silent_p.R236R			Q9BYH1	SE6L1_HUMAN	seizure related 6 homolog (mouse)-like	463	CUB 2. {ECO:0000255|PROSITE- ProRule:PRU00059}.				adult locomotory behavior (GO:0008344)|cerebellar Purkinje cell layer development (GO:0021680)|regulation of protein kinase C signaling (GO:0090036)|synapse maturation (GO:0060074)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)		p.R463R(1)		breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	80						CCATCGGCCGCGTCCTCTCCC	0.567																																						ENST00000529632.2																			1	Substitution - coding silent(1)	p.R463R(1)	prostate(1)	breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	80						c.(1387-1389)cgC>cgT		seizure related 6 homolog (mouse)-like							73	67	69					22																	26701985		2203	4300	6503	SO:0001819	synonymous_variant	23544					endoplasmic reticulum membrane|integral to membrane		g.chr22:26701985C>T	AL050253	CCDS13833.1, CCDS54508.1, CCDS54510.1, CCDS54511.1, CCDS74837.1	22q12.1	2008-05-14	2001-11-28		ENSG00000100095	ENSG00000100095			10763	protein-coding gene	gene with protein product		607021	"seizure related gene 6 (mouse)-like"				Standard	NM_021115		Approved		uc003acb.3	Q9BYH1	OTTHUMG00000150870	ENST00000248933.6:c.1389C>T	22.37:g.26701985C>T						SEZ6L_ENST00000402979.1_Silent_p.R236R|SEZ6L_ENST00000404234.3_Silent_p.R463R|SEZ6L_ENST00000360929.3_Silent_p.R463R|SEZ6L_ENST00000403121.1_Silent_p.R236R|SEZ6L_ENST00000248933.6_Silent_p.R463R|SEZ6L_ENST00000343706.4_Silent_p.R463R	p.R463R	NM_001184774.1|NM_001184775.1|NM_001184777.1	NP_001171703.1|NP_001171704.1|NP_001171706.1	Q9BYH1	SE6L1_HUMAN			6	1585	+			463			CUB 2.		A0AUW7|B0QYG4|B0QYG5|B7ZLJ6|G8JLP3|O95917|Q5THY5|Q6IBZ4|Q6UXD4|Q9NUI3|Q9NUI4|Q9NUI5|Q9Y2E1|Q9Y3J6	Silent	SNP	ENST00000248933.6	37	c.1389C>T	CCDS13833.1																																																																																				0.567	SEZ6L-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000320359.3			5	70	0	0	0	0.184627	0	5	70					T	26701985	C	T	26701985	2	4	37	1	0	0	0	0	0	0	0	1	14143	755	27	1		1	SEZ6L	22	26701985	Silent	SNP	C	TCGA-CH-5772-01A-11D-1576-08		26701985	24602581	88	2051											
BRD1	23774	broad.mit.edu	37	chr22	50217746	50217746	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgttttccttgttgctgtTgcactcactcatctcttgag	4	18	8	11	0	3	1	2	1	1	0	5	1	4	1	1	0	2	6	1	0	0	6			TCGA-CH-5772-01A-11D-1576-08	TCGA-CH-5772-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a94aed7-03d7-463d-bb87-bca2994f297d	87c4609d-4743-435b-8e1c-b5187a750224	g.chr22:50217746T>C	ENST00000216267.8	-	1	706	c.220A>G	c.(220-222)Aac>Gac	p.N74D	BRD1_ENST00000404760.1_Missense_Mutation_p.N74D|BRD1_ENST00000459821.1_5'Flank|BRD1_ENST00000342989.5_5'Flank|BRD1_ENST00000404034.1_Missense_Mutation_p.N74D|BRD1_ENST00000457780.2_Missense_Mutation_p.N74D|BRD1_ENST00000542442.1_5'Flank	NM_014577.1	NP_055392.1	O95696	BRD1_HUMAN	bromodomain containing 1	74					histone H3 acetylation (GO:0043966)	MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleus (GO:0005634)	histone binding (GO:0042393)|zinc ion binding (GO:0008270)	p.N74D(1)		endometrium(6)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	37		all_cancers(38;6.11e-10)|all_epithelial(38;8.06e-09)|all_lung(38;6.64e-05)|Lung NSC(38;0.0011)|Breast(42;0.00235)|Ovarian(80;0.0139)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0369)|BRCA - Breast invasive adenocarcinoma(115;0.21)		TTGTTGCTGTTGCACTCACTC	0.473																																						ENST00000216267.8																			1	Substitution - Missense(1)	p.N74D(1)	prostate(1)	endometrium(6)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	37						c.(220-222)Aac>Gac		bromodomain containing 1							119	117	118					22																	50217746		2203	4300	6503	SO:0001583	missense	23774				histone H3 acetylation	MOZ/MORF histone acetyltransferase complex	zinc ion binding	g.chr22:50217746T>C	AF005067	CCDS14080.1	22q13.33	2008-07-01	2002-01-14		ENSG00000100425	ENSG00000100425			1102	protein-coding gene	gene with protein product	"BR140-like"	604589	"bromodomain-containing 1"			10591208, 10602503	Standard	NM_014577		Approved	BRL, BRPF2	uc003biv.3	O95696	OTTHUMG00000150288	ENST00000216267.8:c.220A>G	22.37:g.50217746T>C	ENSP00000216267:p.Asn74Asp					BRD1_ENST00000404034.1_Missense_Mutation_p.N74D|BRD1_ENST00000457780.2_Missense_Mutation_p.N74D|BRD1_ENST00000404760.1_Missense_Mutation_p.N74D	p.N74D	NM_014577.1	NP_055392.1	O95696	BRD1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.0369)|BRCA - Breast invasive adenocarcinoma(115;0.21)	1	706	-		all_cancers(38;6.11e-10)|all_epithelial(38;8.06e-09)|all_lung(38;6.64e-05)|Lung NSC(38;0.0011)|Breast(42;0.00235)|Ovarian(80;0.0139)|Lung SC(80;0.164)	74					A6ZJA4	Missense_Mutation	SNP	ENST00000216267.8	37	c.220A>G	CCDS14080.1	.	.	.	.	.	.	.	.	.	.	T	11.78	1.741491	0.30865	.	.	ENSG00000100425	ENST00000216267;ENST00000404034;ENST00000404760;ENST00000457780	T;T;T;T	0.42900	0.96;0.96;0.96;0.96	5.12	5.12	0.69794	Enhancer of polycomb-like, N-terminal (1);	0.141050	0.64402	D	0.000007	T	0.51312	0.1667	L	0.56769	1.78	0.40403	D	0.979668	P;D;P	0.55172	0.571;0.97;0.515	B;P;B	0.52386	0.174;0.697;0.108	T	0.52917	-0.8511	9	.	.	.	.	14.9058	0.70718	0.0:0.0:0.0:1.0	.	74;74;74	Q86X06;O95696;O95696-2	.;BRD1_HUMAN;.	D	74	ENSP00000216267:N74D;ENSP00000384076:N74D;ENSP00000385858:N74D;ENSP00000410042:N74D	.	N	-	1	0	BRD1	48603750	1.000000	0.71417	1.000000	0.80357	0.693000	0.40251	5.759000	0.68785	1.930000	0.55929	0.368000	0.22195	AAC		0.473	BRD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317402.1	NM_014577		6	200	0	0	0	0.248553	0	6	200					C	50217746	T	C	50217746	3	2	37	1	0	0	0	0	1	0	0	0	1501	1812	63	4	3004	4	BRD1	22	50217746	Missense_Mutation	SNP	T	TCGA-CH-5772-01A-11D-1576-08	23515761	50217746	1086820	89	2052											
LMF2	91289	broad.mit.edu	37	chr22	50941923	50941923	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctttctgggaggctggcctgCgcttctccccgctgactggt	2	12	13	14	2	2	1	0	1	2	0	3	2	2	2	3	4	1	3	3	4	0	2			TCGA-CH-5772-01A-11D-1576-08	TCGA-CH-5772-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a94aed7-03d7-463d-bb87-bca2994f297d	87c4609d-4743-435b-8e1c-b5187a750224	g.chr22:50941923C>T	ENST00000474879.2	-	14	2036	c.2021G>A	c.(2020-2022)cGc>cAc	p.R674H	LMF2_ENST00000380796.3_Missense_Mutation_p.R561H|LMF2_ENST00000505981.1_5'Flank|LMF2_ENST00000216080.5_Missense_Mutation_p.R649H	NM_033200.2	NP_149977.2	Q9BU23	LMF2_HUMAN	lipase maturation factor 2	674						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)		p.R649H(1)		breast(1)|cervix(1)|kidney(1)|lung(4)|prostate(1)|skin(2)	10		all_cancers(38;1.31e-09)|all_epithelial(38;1.81e-08)|all_lung(38;0.000817)|Breast(42;0.00387)|Lung NSC(38;0.0124)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		GGCTGGCCTGCGCTTCTCCCC	0.662																																						ENST00000216080.5																			1	Substitution - Missense(1)	p.R649H(1)	prostate(1)	breast(1)|cervix(1)|kidney(1)|lung(4)|prostate(1)|skin(2)	10						c.(1945-1947)cGc>cAc		lipase maturation factor 2							14	17	16					22																	50941923		2197	4287	6484	SO:0001583	missense	91289					endoplasmic reticulum membrane|integral to membrane		g.chr22:50941923C>T	BC002942	CCDS14093.1, CCDS14093.2	22q13.33	2008-02-04	2007-11-29	2007-11-29	ENSG00000100258	ENSG00000100258			25096	protein-coding gene	gene with protein product			"transmembrane protein 153", "transmembrane protein 112B"	TMEM153, TMEM112B		12477932	Standard	NM_033200		Approved		uc003blp.2	Q9BU23	OTTHUMG00000150206	ENST00000474879.2:c.2021G>A	22.37:g.50941923C>T	ENSP00000424381:p.Arg674His					LMF2_ENST00000380796.3_Missense_Mutation_p.R561H|LMF2_ENST00000474879.2_Missense_Mutation_p.R674H	p.R649H			Q9BU23	LMF2_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)	14	2114	-		all_cancers(38;1.31e-09)|all_epithelial(38;1.81e-08)|all_lung(38;0.000817)|Breast(42;0.00387)|Lung NSC(38;0.0124)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)	674					A6NEZ0|Q13392|Q6ZNR2|Q8WU74|Q96C62	Missense_Mutation	SNP	ENST00000474879.2	37	c.1946G>A	CCDS14093.2	.	.	.	.	.	.	.	.	.	.	C	1.695	-0.502920	0.04261	.	.	ENSG00000100258	ENST00000380796;ENST00000474879;ENST00000216080	T;T;T	0.31769	1.48;1.91;1.9	5.12	0.172	0.15031	.	0.965442	0.08583	N	0.924288	T	0.14270	0.0345	N	0.11560	0.145	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.27054	-1.0085	10	0.35671	T	0.21	3.0684	3.4612	0.07533	0.1644:0.2921:0.0:0.5435	.	674;649	Q9BU23;Q9BU23-2	LMF2_HUMAN;.	H	561;674;649	ENSP00000370173:R561H;ENSP00000424381:R674H;ENSP00000216080:R649H	ENSP00000216080:R649H	R	-	2	0	LMF2	49288789	0.007000	0.16637	0.102000	0.21198	0.016000	0.09150	-0.022000	0.12480	-0.188000	0.10499	-0.459000	0.05422	CGC		0.662	LMF2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316833.2	NM_033200		6	34	0	0	0	0.217242	0	6	34					T	50941923	C	T	50941923	3	4	37	1	0	0	0	0	1	0	0	0	8846	768	27	1	106	1	LMF2	22	50941923	Missense_Mutation	SNP	C	TCGA-CH-5772-01A-11D-1576-08	724177	50941923	362643	90	2053											
PDK3	5165	broad.mit.edu	37	chrX	24516991	24516991	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ttagaatatgaaaataagagCcctgaggatccacaggtctt	15	10	9	7	0	1	4	0	2	1	2	2	5	2	5	2	2	1	0	2	2	6	4			TCGA-CH-5772-01A-11D-1576-08	TCGA-CH-5772-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a94aed7-03d7-463d-bb87-bca2994f297d	87c4609d-4743-435b-8e1c-b5187a750224	g.chrX:24516991C>T	ENST00000379162.4	+	3	529	c.294C>T	c.(292-294)agC>agT	p.S98S	PDK3_ENST00000441463.2_Silent_p.S98S|PDK3_ENST00000493226.1_3'UTR	NM_005391.4	NP_005382.1	Q15120	PDK3_HUMAN	pyruvate dehydrogenase kinase, isozyme 3	98					cell death (GO:0008219)|cellular metabolic process (GO:0044237)|cellular response to fatty acid (GO:0071398)|cellular response to glucose stimulus (GO:0071333)|glucose metabolic process (GO:0006006)|hypoxia-inducible factor-1alpha signaling pathway (GO:0097411)|peptidyl-serine phosphorylation (GO:0018105)|peroxisome proliferator activated receptor signaling pathway (GO:0035357)|pyruvate metabolic process (GO:0006090)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|regulation of glucose metabolic process (GO:0010906)|regulation of reactive oxygen species metabolic process (GO:2000377)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|pyruvate dehydrogenase (acetyl-transferring) kinase activity (GO:0004740)	p.S98S(2)		NS(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23						AAAATAAGAGCCCTGAGGATC	0.323																																						ENST00000441463.2																			2	Substitution - coding silent(2)	p.S98S(2)	prostate(2)	NS(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23						c.(292-294)agC>agT		pyruvate dehydrogenase kinase, isozyme 3							43	46	45					X																	24516991		2203	4299	6502	SO:0001819	synonymous_variant	5165				glucose metabolic process|peptidyl-histidine phosphorylation|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	ATP binding|protein binding|pyruvate dehydrogenase (acetyl-transferring) kinase activity|two-component sensor activity	g.chrX:24516991C>T	L42452	CCDS14212.1, CCDS48088.1	Xp22.12	2008-02-05	2005-11-16		ENSG00000067992	ENSG00000067992			8811	protein-coding gene	gene with protein product		300906	"pyruvate dehydrogenase kinase, isoenzyme 3"			7499431	Standard	NM_001142386		Approved		uc004dbh.3	Q15120	OTTHUMG00000021269	ENST00000379162.4:c.294C>T	X.37:g.24516991C>T						PDK3_ENST00000493226.1_3'UTR|PDK3_ENST00000379162.4_Silent_p.S98S	p.S98S	NM_001142386.2	NP_001135858.1	Q15120	PDK3_HUMAN			3	294	+			98					B4DXG6	Silent	SNP	ENST00000379162.4	37	c.294C>T	CCDS14212.1																																																																																				0.323	PDK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056097.1	NM_005391		31	14	0	0	0	0.740014	0	31	14					T	24516991	C	T	24516991	2	4	37	1	0	0	0	0	0	0	0	1	11677	738	26	3		3	PDK3	23	24516991	Silent	SNP	C	TCGA-CH-5772-01A-11D-1576-08		24516991	130753569	91	2054											
ZMYM3	9203	broad.mit.edu	37	chrX	70463721	70463722	+	Frame_Shift_Del	DEL	AT	AT	-																															tagtagatactgtcaggttcAtatcgttcaccattgggccg																										TCGA-CH-5772-01A-11D-1576-08	TCGA-CH-5772-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a94aed7-03d7-463d-bb87-bca2994f297d	87c4609d-4743-435b-8e1c-b5187a750224	g.chrX:70463721_70463722delAT	ENST00000353904.2	-	21	3576_3577	c.3389_3390delAT	c.(3388-3390)tatfs	p.Y1130fs	ZMYM3_ENST00000373988.1_Frame_Shift_Del_p.Y1132fs|ZMYM3_ENST00000314425.5_Frame_Shift_Del_p.Y1130fs|ZMYM3_ENST00000373984.3_Frame_Shift_Del_p.Y1125fs|ZMYM3_ENST00000373998.1_Frame_Shift_Del_p.Y1118fs|ZMYM3_ENST00000489332.1_5'UTR	NM_005096.3	NP_005087.1	Q14202	ZMYM3_HUMAN	zinc finger, MYM-type 3	1130					cytoskeleton organization (GO:0007010)|multicellular organismal development (GO:0007275)|regulation of cell morphogenesis (GO:0022604)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(7)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(17)|ovary(1)|prostate(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(35;0.156)					TGTCAGGTTCATATCGTTCACC	0.495																																						ENST00000373998.1																			0				breast(1)|central_nervous_system(7)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(17)|ovary(1)|prostate(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						c.(3352-3354)tfs		zinc finger, MYM-type 3																																				SO:0001589	frameshift_variant	9203				multicellular organismal development	nucleus	DNA binding|zinc ion binding	g.chrX:70463721_70463722delAT	AB002383	CCDS14409.1, CCDS55443.1, CCDS55444.1	Xq13.1	2013-01-08	2005-12-19	2005-12-19	ENSG00000147130	ENSG00000147130		"Zinc fingers, MYM type"	13054	protein-coding gene	gene with protein product		300061	"zinc finger protein 261"	ZNF261		10486218	Standard	NM_201599		Approved	ZNF198L2, DXS6673E, KIAA0385, MYM	uc004dzh.2	Q14202	OTTHUMG00000021799	ENST00000353904.2:c.3389_3390delAT	X.37:g.70463723_70463724delAT	ENSP00000343909:p.Tyr1130fs					ZMYM3_ENST00000353904.2_Frame_Shift_Del_p.Y1130fs|ZMYM3_ENST00000314425.5_Frame_Shift_Del_p.Y1130fs|ZMYM3_ENST00000373984.3_Frame_Shift_Del_p.Y1125fs|ZMYM3_ENST00000489332.1_5'UTR|ZMYM3_ENST00000373988.1_Frame_Shift_Del_p.Y1132fs	p.Y1118fs	NM_001171162.1	NP_001164633.1	Q14202	ZMYM3_HUMAN			21	4050_4051	-	Renal(35;0.156)		1130					D3DVV3|O15089|Q96E26	Frame_Shift_Del	DEL	ENST00000353904.2	37	c.3353_3354delAT	CCDS14409.1																																																																																				0.495	ZMYM3-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000057154.1	NM_201599		53	26						53	26	---	---	---	---	-	70463722	AT	-	70463721	7	5	37	1	0	1	0	1	0	0	0	0	17698	224	8	0	742	0	ZMYM3	23	70463721	Frame_Shift_Del	DEL	AT	TCGA-CH-5772-01A-11D-1576-08	45946730	70463721	84806839	92	2055											
ZCCHC5	203430	broad.mit.edu	37	chrX	77913571	77913571	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actcccgggttgctggaggcGccagggactctggggctgct	4	8	17	12	2	1	0	0	0	1	0	2	2	2	2	2	6	2	4	2	6	0	1	rs144237768		TCGA-CH-5772-01A-11D-1576-08	TCGA-CH-5772-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a94aed7-03d7-463d-bb87-bca2994f297d	87c4609d-4743-435b-8e1c-b5187a750224	g.chrX:77913571G>A	ENST00000321110.1	-	2	642	c.347C>T	c.(346-348)gCg>gTg	p.A116V		NM_152694.2	NP_689907.1	Q8N8U3	ZCHC5_HUMAN	zinc finger, CCHC domain containing 5	116	Pro-rich.						nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)	p.A116V(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)|prostate(1)|skin(1)	37						TGCTGGAGGCGCCAGGGACTC	0.627																																						ENST00000321110.1																			1	Substitution - Missense(1)	p.A116V(1)	prostate(1)	breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)|prostate(1)|skin(1)	37						c.(346-348)gCg>gTg		zinc finger, CCHC domain containing 5		G	VAL/ALA	1,3834		0,1,1631,571	23	26	25		347	1.8	0	X	dbSNP_134	25	0,6724		0,0,2428,1868	no	missense	ZCCHC5	NM_152694.2	64	0,1,4059,2439	AA,AG,GG,G		0.0,0.0261,0.0095	benign	116/476	77913571	1,10558	2203	4296	6499	SO:0001583	missense	203430						nucleic acid binding|zinc ion binding	g.chrX:77913571G>A	AK096184	CCDS14440.1	Xq13.3	2008-02-05			ENSG00000179300	ENSG00000179300		"Zinc fingers, CCHC domain containing"	22997	protein-coding gene	gene with protein product						15716091, 16093683	Standard	NM_152694		Approved	FLJ38865, Mar3, Mart3, ZHC5	uc004edc.1	Q8N8U3	OTTHUMG00000021892	ENST00000321110.1:c.347C>T	X.37:g.77913571G>A	ENSP00000316794:p.Ala116Val						p.A116V	NM_152694.2	NP_689907.1	Q8N8U3	ZCHC5_HUMAN			2	642	-			116			Pro-rich.		B2RMZ0|Q5JQE9	Missense_Mutation	SNP	ENST00000321110.1	37	c.347C>T	CCDS14440.1	.	.	.	.	.	.	.	.	.	.	G	9.004	0.980926	0.18812	2.61E-4	0.0	ENSG00000179300	ENST00000321110	T	0.18502	2.21	3.01	1.84	0.25277	.	.	.	.	.	T	0.08626	0.0214	N	0.08118	0	0.09310	N	1	B	0.15719	0.014	B	0.11329	0.006	T	0.31223	-0.9951	9	0.51188	T	0.08	.	7.1902	0.25821	0.0:0.0:0.2253:0.7747	.	116	Q8N8U3	ZCHC5_HUMAN	V	116	ENSP00000316794:A116V	ENSP00000316794:A116V	A	-	2	0	ZCCHC5	77800227	0.000000	0.05858	0.001000	0.08648	0.039000	0.13416	-0.294000	0.08309	0.411000	0.25702	-0.623000	0.04022	GCG		0.627	ZCCHC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057319.1	NM_152694		5	49	0	0	0	0.217242	0	5	49					A	77913571	G	A	77913571	3	1	37	1	0	0	0	0	1	0	0	0	17588	1087	38	1	1084	1	ZCCHC5	23	77913571	Missense_Mutation	SNP	G	TCGA-CH-5772-01A-11D-1576-08	7449850	77913571	77356989	93	2056											
PCDH19	57526	broad.mit.edu	37	chrX	99662413	99662413	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gctctcatattcctgcagtcGaaagggcacattgcccagca	10	9	9	13	1	1	0	1	0	1	0	4	1	2	0	2	1	3	4	2	1	2	3			TCGA-CH-5772-01A-11D-1576-08	TCGA-CH-5772-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a94aed7-03d7-463d-bb87-bca2994f297d	87c4609d-4743-435b-8e1c-b5187a750224	g.chrX:99662413G>A	ENST00000373034.4	-	1	2858	c.1183C>T	c.(1183-1185)Cga>Tga	p.R395*	PCDH19_ENST00000255531.7_Nonsense_Mutation_p.R395*|PCDH19_ENST00000420881.2_Nonsense_Mutation_p.R395*	NM_001184880.1	NP_001171809.1	Q8TAB3	PCD19_HUMAN	protocadherin 19	395	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.R395*(1)		breast(5)|endometrium(11)|kidney(1)|large_intestine(14)|liver(1)|lung(23)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	68						TCCTGCAGTCGAAAGGGCACA	0.607																																						ENST00000373034.4																			1	Substitution - Nonsense(1)	p.R395*(1)	prostate(1)	breast(5)|endometrium(11)|kidney(1)|large_intestine(14)|liver(1)|lung(23)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	68						c.(1183-1185)Cga>Tga		protocadherin 19							83	82	83					X																	99662413		2172	4239	6411	SO:0001587	stop_gained	57526				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chrX:99662413G>A	AB037734	CCDS43976.1, CCDS48141.1, CCDS55462.1	Xq22.1	2014-06-28			ENSG00000165194	ENSG00000165194		"Cadherins / Protocadherins : Non-clustered"	14270	protein-coding gene	gene with protein product		300460	"epilepsy, female restricted, with mental retardation (Juberg-Hellman syndrome)"	EFMR		11549318, 18469813, 19752159	Standard	NM_020766		Approved	KIAA1313, EIEE9	uc010nmz.3	Q8TAB3	OTTHUMG00000022000	ENST00000373034.4:c.1183C>T	X.37:g.99662413G>A	ENSP00000362125:p.Arg395*					PCDH19_ENST00000255531.7_Nonsense_Mutation_p.R395*|PCDH19_ENST00000420881.2_Nonsense_Mutation_p.R395*	p.R395*	NM_001184880.1	NP_001171809.1	Q8TAB3	PCD19_HUMAN			1	2858	-			395			Cadherin 4.		B0LDS4|E9PAM6|Q5JTG1|Q5JTG2|Q68DT7|Q9P2N3	Nonsense_Mutation	SNP	ENST00000373034.4	37	c.1183C>T	CCDS55462.1	.	.	.	.	.	.	.	.	.	.	G	37	6.311619	0.97462	.	.	ENSG00000165194	ENST00000420881;ENST00000373034;ENST00000255531	.	.	.	5.95	0.891	0.19224	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.19590	T	0.45	.	16.8526	0.85998	0.0:0.0:0.3244:0.6756	.	.	.	.	X	395	.	ENSP00000255531:R395X	R	-	1	2	PCDH19	99549069	1.000000	0.71417	0.977000	0.42913	0.960000	0.62799	1.373000	0.34272	-0.273000	0.09246	-0.371000	0.07208	CGA		0.607	PCDH19-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057479.2	NM_020766		7	125	0	0	0	0.248553	0	7	125					A	99662413	G	A	99662413	4	1	37	1	0	0	0	0	0	1	0	0	11514	1066	37	2	2287	2	PCDH19	23	99662413	Nonsense_Mutation	SNP	G	TCGA-CH-5772-01A-11D-1576-08	21748842	99662413	55608147	94	2057											
PLP1	5354	broad.mit.edu	37	chrX	103045510	103045510	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cgtccttaaactcatgggccGaggcaccaagttctgatccc	9	9	9	14	2	2	1	1	1	1	0	4	2	4	1	4	2	1	2	4	2	3	2			TCGA-CH-5772-01A-11D-1576-08	TCGA-CH-5772-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a94aed7-03d7-463d-bb87-bca2994f297d	87c4609d-4743-435b-8e1c-b5187a750224	g.chrX:103045510G>A	ENST00000303958.2	+	7	964	c.818G>A	c.(817-819)cGa>cAa	p.R273Q	PLP1_ENST00000361621.2_Missense_Mutation_p.R238Q|PLP1_ENST00000418604.1_Missense_Mutation_p.R273Q|PLP1_ENST00000466486.1_3'UTR	NM_000533.3	NP_000524.3	P60201	MYPR_HUMAN	proteolipid protein 1	273					astrocyte development (GO:0014002)|axon development (GO:0061564)|axon ensheathment (GO:0008366)|cell death (GO:0008219)|cell maturation (GO:0048469)|central nervous system myelination (GO:0022010)|inflammatory response (GO:0006954)|integrin-mediated signaling pathway (GO:0007229)|long-chain fatty acid biosynthetic process (GO:0042759)|positive regulation of gene expression (GO:0010628)|substantia nigra development (GO:0021762)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|myelin sheath (GO:0043209)|plasma membrane (GO:0005886)	structural constituent of myelin sheath (GO:0019911)|structural molecule activity (GO:0005198)	p.R273Q(2)		breast(1)|endometrium(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)	17						CTCATGGGCCGAGGCACCAAG	0.473																																						ENST00000418604.1																			2	Substitution - Missense(2)	p.R273Q(2)	prostate(1)|lung(1)	breast(1)|endometrium(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)	17						c.(817-819)cGa>cAa		proteolipid protein 1							192	169	177					X																	103045510		2203	4300	6503	SO:0001583	missense	5354				cell death|synaptic transmission	integral to membrane		g.chrX:103045510G>A	M27110	CCDS14513.1, CCDS14514.1	Xq22	2013-05-14	2008-07-28		ENSG00000123560	ENSG00000123560			9086	protein-coding gene	gene with protein product	"Pelizaeus-Merzbacher disease"	300401	"spastic paraplegia 2, uncomplicated"	SPG2, PLP			Standard	NM_001128834		Approved	GPM6C	uc004elk.3	P60201	OTTHUMG00000022111	ENST00000303958.2:c.818G>A	X.37:g.103045510G>A	ENSP00000305152:p.Arg273Gln					PLP1_ENST00000303958.2_Missense_Mutation_p.R273Q|PLP1_ENST00000466486.1_3'UTR|PLP1_ENST00000361621.2_Missense_Mutation_p.R238Q	p.R273Q	NM_001128834.1	NP_001122306.1	P60201	MYPR_HUMAN			8	1098	+			273					P04400|P06905|Q502Y1|Q6FHZ6	Missense_Mutation	SNP	ENST00000303958.2	37	c.818G>A	CCDS14513.1	.	.	.	.	.	.	.	.	.	.	G	20.5	4.006642	0.74932	.	.	ENSG00000123560	ENST00000418604;ENST00000303958;ENST00000361621;ENST00000428755	D;D;D	0.99436	-5.9;-5.9;-5.9	5.62	5.62	0.85841	.	0.228632	0.36374	N	0.002633	D	0.99184	0.9717	L	0.43923	1.385	0.49213	D	0.999765	D;D;D;P	0.71674	0.998;0.997;0.997;0.706	D;D;D;B	0.79108	0.992;0.979;0.979;0.041	D	0.99793	1.1032	10	0.56958	D	0.05	-18.3328	15.8551	0.78972	0.0:0.0:1.0:0.0	.	218;273;273;238	B4DI30;A8K9L3;P60201;P60201-2	.;.;MYPR_HUMAN;.	Q	273;273;238;251	ENSP00000405750:R273Q;ENSP00000305152:R273Q;ENSP00000354860:R238Q	ENSP00000305152:R273Q	R	+	2	0	PLP1	102932166	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.939000	0.75911	2.343000	0.79666	0.594000	0.82650	CGA		0.473	PLP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057743.2			9	153	0	0	0	0.335167	0	9	153					A	103045510	G	A	103045510	3	1	37	1	0	0	0	0	1	0	0	0	12104	1058	37	2	844	2	PLP1	23	103045510	Missense_Mutation	SNP	G	TCGA-CH-5772-01A-11D-1576-08	3383097	103045510	52225050	95	2058											
SPRY3	10251	broad.mit.edu	37	chrX	155003970	155003970	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctagtgagcacctcttcaTctgtgaggaatgtgggcgct	7	11	12	11	1	3	2	1	2	2	0	3	3	3	3	2	2	1	2	2	2	2	2			TCGA-CH-5772-01A-11D-1576-08	TCGA-CH-5772-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a94aed7-03d7-463d-bb87-bca2994f297d	87c4609d-4743-435b-8e1c-b5187a750224	g.chrX:155003970T>A	ENST00000302805.2	+	2	868	c.437T>A	c.(436-438)aTc>aAc	p.I146N		NM_005840.1	NP_005831.1	O43610	SPY3_HUMAN	sprouty homolog 3 (Drosophila)	146					multicellular organismal development (GO:0007275)|regulation of signal transduction (GO:0009966)	cytoplasm (GO:0005737)|membrane (GO:0016020)		p.I146N(1)				all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					CACCTCTTCATCTGTGAGGAA	0.612																																						ENST00000302805.2																			1	Substitution - Missense(1)	p.I146N(1)	prostate(1)								c.(436-438)aTc>aAc		sprouty homolog 3 (Drosophila)							111	114	113					X																	155003970		2203	4296	6499	SO:0001583	missense	10251				multicellular organismal development|regulation of signal transduction	cytoplasm|membrane		g.chrX:155003970T>A	AF041038	CCDS14769.4	Xq28 and Yq12	2008-02-05	2001-11-28		ENSG00000168939	ENSG00000168939		"Pseudoautosomal regions / PAR2"	11271	protein-coding gene	gene with protein product	"antagonist of FGF signaling"	300531	"sprouty (Drosophila) homolog 2"			9458049	Standard	NM_005840		Approved	HSPRY3	uc004fnq.1	O43610	OTTHUMG00000022675	ENST00000302805.2:c.437T>A	X.37:g.155003970T>A	ENSP00000302978:p.Ile146Asn						p.I146N	NM_005840.1	NP_005831.1	O43610	SPY3_HUMAN			2	868	+	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)		146					A8K0H8	Missense_Mutation	SNP	ENST00000302805.2	37	c.437T>A	CCDS14769.4	.	.	.	.	.	.	.	.	.	.	T	11.26	1.587690	0.28268	.	.	ENSG00000168939	ENST00000302805	T	0.57752	0.38	2.71	2.71	0.32032	.	0.063936	0.64402	D	0.000010	T	0.30759	0.0775	.	.	.	0.09310	N	1	D	0.55172	0.97	B	0.40702	0.338	T	0.17379	-1.0371	9	0.11794	T	0.64	-25.0983	8.2671	0.31821	0.0:0.0:0.0:1.0	.	146	O43610	SPY3_HUMAN	N	146	ENSP00000302978:I146N	ENSP00000302978:I146N	I	+	2	0	SPRY3	154657164	1.000000	0.71417	1.000000	0.80357	0.579000	0.36224	2.960000	0.49161	1.108000	0.41662	0.231000	0.17811	ATC		0.612	SPRY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058823.2	NM_005840		7	221	0	0	0	0.248553	0	7	221					A	155003970	T	A	155003970	3	1	37	1	0	0	0	0	1	0	0	0	15106	1435	50	5	439	5	SPRY3	23	155003970	Missense_Mutation	SNP	T	TCGA-CH-5772-01A-11D-1576-08	51958460	155003970	266590	96	2059											
UBE4B	10277	broad.mit.edu	37	chr1	10207138	10207138	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgctccgcatcctggaccccGcatatcccgagtgagtgtgc	6	9	11	15	3	0	1	0	1	0	0	3	3	3	2	5	1	2	3	5	1	1	1	rs147329205		TCGA-CH-5788-01A-11D-1576-08	TCGA-CH-5788-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e272bea-9193-4c10-a802-f7e18b2937a3	ebc70303-3561-4cf6-a274-8c83d1d5f9bd	g.chr1:10207138G>A	ENST00000253251.8	+	18	3033	c.2194G>A	c.(2194-2196)Gca>Aca	p.A732T	UBE4B_ENST00000343090.6_Missense_Mutation_p.A861T|UBE4B_ENST00000377157.3_Missense_Mutation_p.A616T					ubiquitination factor E4B									p.A732T(1)|p.A861T(1)		NS(3)|breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(14)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	48		all_lung(284;1.13e-05)|Lung NSC(185;1.74e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0268)|Colorectal(212;1.42e-07)|COAD - Colon adenocarcinoma(227;2.77e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000435)|Kidney(185;0.000482)|KIRC - Kidney renal clear cell carcinoma(229;0.00164)|STAD - Stomach adenocarcinoma(132;0.0117)|READ - Rectum adenocarcinoma(331;0.046)		CCTGGACCCCGCATATCCCGA	0.493																																						ENST00000377157.3																			2	Substitution - Missense(2)	p.A732T(1)|p.A861T(1)	lung(2)	NS(3)|breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(14)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	48						c.(1846-1848)Gca>Aca		ubiquitination factor E4B							178	169	172					1																	10207138		2203	4300	6503	SO:0001583	missense	10277				apoptosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to UV	cytoplasm|ubiquitin ligase complex	enzyme binding	g.chr1:10207138G>A	AF091093	CCDS110.1, CCDS41245.1	1p36.1	2013-01-28	2011-05-19		ENSG00000130939	ENSG00000130939		"U-box domain containing"	12500	protein-coding gene	gene with protein product		613565	"ubiquitination factor E4B (homologous to yeast UFD2)", "ubiquitination factor E4B (UFD2 homolog, yeast)"			9734811, 10089879	Standard	NM_006048		Approved	UBOX3, E4, UFD2, KIAA0684	uc001aqs.4	O95155	OTTHUMG00000001797	ENST00000253251.8:c.2194G>A	1.37:g.10207138G>A	ENSP00000253251:p.Ala732Thr					UBE4B_ENST00000343090.6_Missense_Mutation_p.A861T|UBE4B_ENST00000253251.8_Missense_Mutation_p.A732T	p.A616T	NM_006048.4	NP_006039.2	O95155	UBE4B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0268)|Colorectal(212;1.42e-07)|COAD - Colon adenocarcinoma(227;2.77e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000435)|Kidney(185;0.000482)|KIRC - Kidney renal clear cell carcinoma(229;0.00164)|STAD - Stomach adenocarcinoma(132;0.0117)|READ - Rectum adenocarcinoma(331;0.046)	18	2907	+		all_lung(284;1.13e-05)|Lung NSC(185;1.74e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)	861						Missense_Mutation	SNP	ENST00000253251.8	37	c.1846G>A	CCDS110.1	.	.	.	.	.	.	.	.	.	.	G	16.75	3.208293	0.58343	.	.	ENSG00000130939	ENST00000253251;ENST00000377157;ENST00000343090	T;T;T	0.42513	0.97;0.97;0.97	5.68	5.68	0.88126	Ubiquitin conjugation factor E4, core (1);	0.051667	0.85682	D	0.000000	T	0.19127	0.0459	N	0.03324	-0.35	0.54753	D	0.999987	B;B;B	0.30439	0.017;0.279;0.014	B;B;B	0.19391	0.005;0.025;0.003	T	0.17531	-1.0366	10	0.14252	T	0.57	-17.6257	14.6722	0.68953	0.0:0.0:0.8548:0.1452	.	732;861;732	A8K8S9;O95155;O95155-2	.;UBE4B_HUMAN;.	T	732;616;861	ENSP00000253251:A732T;ENSP00000366362:A616T;ENSP00000343001:A861T	ENSP00000253251:A732T	A	+	1	0	UBE4B	10129725	1.000000	0.71417	0.999000	0.59377	0.990000	0.78478	6.270000	0.72563	2.700000	0.92200	0.558000	0.71614	GCA		0.493	UBE4B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005017.1	NM_006048		6	343	0	0	0	0.248553	0	6	343					A	10207138	G	A	10207138	3	1	38	1	0	0	0	0	1	0	0	0	16880	1087	38	1	2655	1	UBE4B	1	10207138	Missense_Mutation	SNP	G	TCGA-CH-5788-01A-11D-1576-08		10207138	239043483	1	2060											
HSPG2	3339	broad.mit.edu	37	chr1	22178148	22178148	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tctgcccttccgccacttgcGaggaggagggctcgatgcgg	5	8	15	13	4	1	0	0	0	1	0	3	4	2	2	3	4	3	1	3	4	0	2	rs563318176		TCGA-CH-5788-01A-11D-1576-08	TCGA-CH-5788-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e272bea-9193-4c10-a802-f7e18b2937a3	ebc70303-3561-4cf6-a274-8c83d1d5f9bd	g.chr1:22178148G>A	ENST00000374695.3	-	55	7128	c.7049C>T	c.(7048-7050)tCg>tTg	p.S2350L	HSPG2_ENST00000430507.1_3'UTR	NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	2350	Ig-like C2-type 9.				angiogenesis (GO:0001525)|brain development (GO:0007420)|carbohydrate metabolic process (GO:0005975)|cardiac muscle tissue development (GO:0048738)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|chondrocyte differentiation (GO:0002062)|chondroitin sulfate metabolic process (GO:0030204)|embryonic skeletal system morphogenesis (GO:0048704)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|lipoprotein metabolic process (GO:0042157)|phototransduction, visible light (GO:0007603)|protein localization (GO:0008104)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	basal lamina (GO:0005605)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)	p.S2350L(1)		breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Palifermin(DB00039)	CGCCACTTGCGAGGAGGAGGG	0.652													g|||	1	0.000199681	0	0	5008	,	,		18537	0.001		0	False		,,,				2504	0					ENST00000374695.3																			1	Substitution - Missense(1)	p.S2350L(1)	prostate(1)	breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127						c.(7048-7050)tCg>tTg		heparan sulfate proteoglycan 2	Becaplermin(DB00102)|Palifermin(DB00039)						81	85	84					1																	22178148		2203	4300	6503	SO:0001583	missense	3339				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding	g.chr1:22178148G>A	M85289	CCDS30625.1	1p36.1-p35	2013-01-29	2007-02-16	2007-02-16	ENSG00000142798	ENSG00000142798		"Proteoglycans / Extracellular Matrix : Other", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5273	protein-coding gene	gene with protein product	"perlecan proteoglycan"	142461	"Schwartz-Jampel syndrome 1 (chondrodystrophic myotonia)"	SJS1		1685141, 11941538	Standard	XM_005245863		Approved	perlecan, PRCAN	uc001bfj.3	P98160	OTTHUMG00000002674	ENST00000374695.3:c.7049C>T	1.37:g.22178148G>A	ENSP00000363827:p.Ser2350Leu					HSPG2_ENST00000430507.1_3'UTR	p.S2350L	NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	55	7128	-		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)	2350			Ig-like C2-type 9.		Q16287|Q5SZI3|Q9H3V5	Missense_Mutation	SNP	ENST00000374695.3	37	c.7049C>T	CCDS30625.1	.	.	.	.	.	.	.	.	.	.	G	15.66	2.900661	0.52227	.	.	ENSG00000142798	ENST00000374695	T	0.64260	-0.09	5.52	5.52	0.82312	Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.36591	N	0.002516	T	0.62636	0.2444	N	0.25201	0.72	0.32110	N	0.589413	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.996	T	0.58323	-0.7656	10	0.09338	T	0.73	.	11.9574	0.52988	0.0:0.0:0.8266:0.1734	.	290;2350	Q59EG0;P98160	.;PGBM_HUMAN	L	2350	ENSP00000363827:S2350L	ENSP00000363827:S2350L	S	-	2	0	HSPG2	22050735	1.000000	0.71417	0.792000	0.32020	0.007000	0.05969	5.645000	0.67909	2.598000	0.87819	0.462000	0.41574	TCG		0.652	HSPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007598.1	NM_005529		4	111	0	0	0	0.248553	0	4	111					A	22178148	G	A	22178148	3	1	38	1	0	0	0	0	1	0	0	0	7430	1059	37	2	6298	2	HSPG2	1	22178148	Missense_Mutation	SNP	G	TCGA-CH-5788-01A-11D-1576-08	11971010	22178148	227072473	2	2061											
MAST2	23139	broad.mit.edu	37	chr1	46497980	46497980	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agcatgaggcctcccatcatCatccaccgagctggcaagaa	12	6	9	14	1	2	2	2	1	0	1	4	3	4	2	4	2	2	3	4	2	2	0			TCGA-CH-5788-01A-11D-1576-08	TCGA-CH-5788-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e272bea-9193-4c10-a802-f7e18b2937a3	ebc70303-3561-4cf6-a274-8c83d1d5f9bd	g.chr1:46497980C>T	ENST00000361297.2	+	25	3601	c.3318C>T	c.(3316-3318)atC>atT	p.I1106I	MAST2_ENST00000372009.2_Intron	NM_015112.2	NP_055927.2			microtubule associated serine/threonine kinase 2											breast(1)|lung(3)|ovary(5)|stomach(2)	11	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.184)					CTCCCATCATCATCCACCGAG	0.572																																						ENST00000361297.2																			0				breast(1)|lung(3)|ovary(5)|stomach(2)	11						c.(3316-3318)atC>atT		microtubule associated serine/threonine kinase 2							79	85	83					1																	46497980		2177	4291	6468	SO:0001819	synonymous_variant	23139				regulation of interleukin-12 biosynthetic process|spermatid differentiation	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|phosphatase binding|protein serine/threonine kinase activity	g.chr1:46497980C>T	AB047005	CCDS41326.1	1p34.1	2008-02-05			ENSG00000086015	ENSG00000086015			19035	protein-coding gene	gene with protein product		612257					Standard	NM_015112		Approved	MAST205, KIAA0807	uc001cov.3	Q6P0Q8	OTTHUMG00000008007	ENST00000361297.2:c.3318C>T	1.37:g.46497980C>T						MAST2_ENST00000372009.2_Intron|MAST2_ENST00000372008.1_Intron	p.I1106I	NM_015112.2	NP_055927.2	Q6P0Q8	MAST2_HUMAN			25	3601	+	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.184)		1106			PDZ.			Silent	SNP	ENST00000361297.2	37	c.3318C>T	CCDS41326.1																																																																																				0.572	MAST2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021977.1	NM_015112		4	117	0	0	0	0.307466	0	4	117					T	46497980	C	T	46497980	2	4	38	1	0	0	0	0	0	0	0	1	9325	816	29	3		3	MAST2	1	46497980	Silent	SNP	C	TCGA-CH-5788-01A-11D-1576-08	24319832	46497980	202752641	3	2062											
CDCP2	200008	broad.mit.edu	37	chr1	54605390	54605390	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aggctgcaaagcctccccttCgccctcagtggacccactcc	7	7	8	19	1	1	0	1	0	0	0	4	1	3	1	6	2	2	2	6	2	1	1			TCGA-CH-5788-01A-11D-1576-08	TCGA-CH-5788-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e272bea-9193-4c10-a802-f7e18b2937a3	ebc70303-3561-4cf6-a274-8c83d1d5f9bd	g.chr1:54605390C>T	ENST00000371330.1	-	4	2000	c.1153G>A	c.(1153-1155)Gaa>Aaa	p.E385K	CDCP2_ENST00000530059.1_Intron|RP11-446E24.4_ENST00000525949.1_5'Flank	NM_201546.2	NP_963840.2	Q5VXM1	CDCP2_HUMAN	CUB domain containing protein 2	385						extracellular region (GO:0005576)		p.E385K(1)		kidney(1)|large_intestine(6)|lung(13)|ovary(1)|prostate(2)|stomach(1)	24						GCCTCCCCTTCGCCCTCAGTG	0.612																																						ENST00000371330.1																			1	Substitution - Missense(1)	p.E385K(1)	prostate(1)	kidney(1)|large_intestine(6)|lung(13)|ovary(1)|prostate(2)|stomach(1)	24						c.(1153-1155)Gaa>Aaa		CUB domain containing protein 2							47	50	49					1																	54605390		2203	4300	6503	SO:0001583	missense	200008					extracellular region		g.chr1:54605390C>T		CCDS588.2	1p32.3	2011-02-10			ENSG00000157211	ENSG00000157211			27297	protein-coding gene	gene with protein product		612320				12477932	Standard	NM_201546		Approved		uc001cwv.2	Q5VXM1	OTTHUMG00000155307	ENST00000371330.1:c.1153G>A	1.37:g.54605390C>T	ENSP00000360381:p.Glu385Lys					CDCP2_ENST00000530059.1_Intron	p.E385K	NM_201546.2	NP_963840.2	Q5VXM1	CDCP2_HUMAN			4	2000	-			385					Q6ZWJ3	Missense_Mutation	SNP	ENST00000371330.1	37	c.1153G>A	CCDS588.2	.	.	.	.	.	.	.	.	.	.	c	10.72	1.429895	0.25726	.	.	ENSG00000157211	ENST00000371330	T	0.27104	1.69	3.89	-4.11	0.03928	.	2.498820	0.01886	N	0.038206	T	0.15089	0.0364	N	0.19112	0.55	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.15983	-1.0418	10	0.29301	T	0.29	3.0328	5.6397	0.17557	0.1533:0.2496:0.0:0.5971	.	385	Q5VXM1	CDCP2_HUMAN	K	385	ENSP00000360381:E385K	ENSP00000360381:E385K	E	-	1	0	CDCP2	54377978	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-0.147000	0.10234	-0.835000	0.04234	-2.592000	0.00164	GAA		0.612	CDCP2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000022209.2	NM_201546		40	38	0	0	0	0.827153	0	40	38					T	54605390	C	T	54605390	3	4	38	1	0	0	0	0	1	0	0	0	3094	893	31	2	200	2	CDCP2	1	54605390	Missense_Mutation	SNP	C	TCGA-CH-5788-01A-11D-1576-08	8107410	54605390	194645231	4	2063											
COL11A1	1301	broad.mit.edu	37	chr1	103544235	103544235	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcccgtcagcgatgttaacaGttctgaagaggggatagtct	10	11	12	8	2	3	2	1	1	2	1	4	4	4	3	1	2	2	2	1	2	3	3			TCGA-CH-5788-01A-11D-1576-08	TCGA-CH-5788-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e272bea-9193-4c10-a802-f7e18b2937a3	ebc70303-3561-4cf6-a274-8c83d1d5f9bd	g.chr1:103544235G>A	ENST00000370096.3	-	3	779	c.467C>T	c.(466-468)aCt>aTt	p.T156I	COL11A1_ENST00000353414.4_Missense_Mutation_p.T156I|COL11A1_ENST00000512756.1_Missense_Mutation_p.T156I|COL11A1_ENST00000358392.2_Missense_Mutation_p.T156I	NM_001854.3	NP_001845.3	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	156	Laminin G-like.				cartilage condensation (GO:0001502)|chondrocyte development (GO:0002063)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|embryonic skeletal system morphogenesis (GO:0048704)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|proteoglycan metabolic process (GO:0006029)|sensory perception of sound (GO:0007605)|tendon development (GO:0035989)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visual perception (GO:0007601)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)	p.T156I(2)|p.T156S(1)		NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		GATGTTAACAGTTCTGAAGAG	0.368																																						ENST00000358392.2																			3	Substitution - Missense(3)	p.T156I(2)|p.T156S(1)	prostate(2)|large_intestine(1)	NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258						c.(466-468)aCt>aTt		collagen, type XI, alpha 1							81	86	84					1																	103544235		2203	4300	6503	SO:0001583	missense	1301				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging	g.chr1:103544235G>A	J04177	CCDS778.1, CCDS780.1, CCDS780.2, CCDS53348.1	1p21	2013-01-16			ENSG00000060718	ENSG00000060718		"Collagens"	2186	protein-coding gene	gene with protein product	"collagen XI, alpha-1 polypeptide"	120280		COLL6		3182841	Standard	NM_080630		Approved	STL2, CO11A1	uc001dul.3	P12107	OTTHUMG00000010872	ENST00000370096.3:c.467C>T	1.37:g.103544235G>A	ENSP00000359114:p.Thr156Ile					COL11A1_ENST00000370096.3_Missense_Mutation_p.T156I|COL11A1_ENST00000512756.1_Missense_Mutation_p.T156I|COL11A1_ENST00000353414.4_Missense_Mutation_p.T156I	p.T156I	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)	3	784	-		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)	156			TSP N-terminal.		B1ASK7|D3DT73|E9PCU0|Q14034|Q149N0|Q9UIT4|Q9UIT5|Q9UIT6	Missense_Mutation	SNP	ENST00000370096.3	37	c.467C>T	CCDS778.1	.	.	.	.	.	.	.	.	.	.	G	17.70	3.453433	0.63290	.	.	ENSG00000060718	ENST00000370096;ENST00000358392;ENST00000353414;ENST00000512756;ENST00000427239;ENST00000447608	T;T;T;T;T;T	0.02280	4.36;4.36;4.36;4.36;4.36;4.36	5.52	5.52	0.82312	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (1);Laminin G, thrombospondin-type, N-terminal (1);Laminin G, subdomain 2 (1);	0.181585	0.49305	D	0.000160	T	0.02267	0.0070	L	0.51422	1.61	0.47094	D	0.999312	B;B;P;P	0.41848	0.322;0.403;0.763;0.684	B;B;B;B	0.40329	0.247;0.159;0.219;0.326	T	0.55982	-0.8054	10	0.66056	D	0.02	.	19.4381	0.94806	0.0:0.0:1.0:0.0	.	156;156;156;156	E9PCU0;P12107-3;P12107-2;P12107	.;.;.;COBA1_HUMAN	I	156;156;156;156;156;83	ENSP00000359114:T156I;ENSP00000351163:T156I;ENSP00000302551:T156I;ENSP00000426533:T156I;ENSP00000408640:T156I;ENSP00000410177:T83I	ENSP00000302551:T156I	T	-	2	0	COL11A1	103316823	0.998000	0.40836	1.000000	0.80357	0.997000	0.91878	3.812000	0.55628	2.602000	0.87976	0.650000	0.86243	ACT		0.368	COL11A1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000029997.1	NM_080630		68	88	0	0	0	0.870114	0	68	88					A	103544235	G	A	103544235	3	1	38	1	0	0	0	0	1	0	0	0	3667	1029	36	3	5370	3	COL11A1	1	103544235	Missense_Mutation	SNP	G	TCGA-CH-5788-01A-11D-1576-08	48938845	103544235	145706386	5	2064											
NTRK1	4914	broad.mit.edu	37	chr1	156830913	156830913	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tggatagcctccaccacctgCccggcgcagagaacctgact	9	6	10	16	2	0	2	0	1	0	1	1	4	1	3	6	2	3	1	6	2	2	1			TCGA-CH-5788-01A-11D-1576-08	TCGA-CH-5788-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e272bea-9193-4c10-a802-f7e18b2937a3	ebc70303-3561-4cf6-a274-8c83d1d5f9bd	g.chr1:156830913C>T	ENST00000524377.1	+	1	228	c.187C>T	c.(187-189)Ccc>Tcc	p.P63S	NTRK1_ENST00000392302.2_Intron|INSRR_ENST00000368195.3_5'Flank|NTRK1_ENST00000358660.3_Missense_Mutation_p.P63S|NTRK1_ENST00000368196.3_Missense_Mutation_p.P63S	NM_002529.3	NP_002520.2	P04629	NTRK1_HUMAN	neurotrophic tyrosine kinase, receptor, type 1	63					activation of adenylate cyclase activity (GO:0007190)|activation of MAPKK activity (GO:0000186)|activation of phospholipase C activity (GO:0007202)|aging (GO:0007568)|axon guidance (GO:0007411)|axonogenesis involved in innervation (GO:0060385)|B cell differentiation (GO:0030183)|cellular response to nerve growth factor stimulus (GO:1990090)|cellular response to nicotine (GO:0071316)|circadian rhythm (GO:0007623)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|developmental programmed cell death (GO:0010623)|learning or memory (GO:0007611)|mechanoreceptor differentiation (GO:0042490)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|olfactory nerve development (GO:0021553)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of angiogenesis (GO:0045766)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron projection development (GO:0010976)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of programmed cell death (GO:0043068)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Ras protein signal transduction (GO:0046579)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|Ras protein signal transduction (GO:0007265)|response to activity (GO:0014823)|response to axon injury (GO:0048678)|response to drug (GO:0042493)|response to electrical stimulus (GO:0051602)|response to ethanol (GO:0045471)|response to hydrostatic pressure (GO:0051599)|response to nutrient levels (GO:0031667)|response to radiation (GO:0009314)|Sertoli cell development (GO:0060009)|small GTPase mediated signal transduction (GO:0007264)|sympathetic nervous system development (GO:0048485)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	axon (GO:0030424)|cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|early endosome (GO:0005769)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|nerve growth factor binding (GO:0048406)|nerve growth factor receptor activity (GO:0010465)|neurotrophin binding (GO:0043121)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.P63S(2)		breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(35)|ovary(8)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	74	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)				Amitriptyline(DB00321)|Imatinib(DB00619)|Regorafenib(DB08896)	CCACCACCTGCCCGGCGCAGA	0.736			T	"TPM3, TPR, TFG"	papillary thyroid					TSP Lung(10;0.080)																												ENST00000368196.3				Dom	yes		1	1q21-q22	4914	T	"neurotrophic tyrosine kinase, receptor, type 1"			E	"TPM3, TPR, TFG"		papillary thyroid		2	Substitution - Missense(2)	p.P63S(2)	prostate(2)	breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(35)|ovary(8)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	74						c.(187-189)Ccc>Tcc		neurotrophic tyrosine kinase, receptor, type 1	Imatinib(DB00619)						7	8	8					1																	156830913		2142	4203	6345	SO:0001583	missense	4914				activation of adenylate cyclase activity|activation of MAPKK activity|activation of phospholipase C activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development|phosphatidylinositol-mediated signaling|Ras protein signal transduction	endosome|integral to plasma membrane	ATP binding|neurotrophin receptor activity|transmembrane receptor protein serine/threonine kinase activity|transmembrane receptor protein tyrosine kinase activity	g.chr1:156830913C>T	Y09028	CCDS1161.1, CCDS30890.1, CCDS30891.1	1q21-q22	2014-09-17			ENSG00000198400	ENSG00000198400	2.7.10.1	"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	8031	protein-coding gene	gene with protein product	"high affinity nerve growth factor receptor"	191315				2869410	Standard	NM_001007792		Approved	TRK, TRKA, MTC	uc001fqh.1	P04629	OTTHUMG00000041304	ENST00000524377.1:c.187C>T	1.37:g.156830913C>T	ENSP00000431418:p.Pro63Ser	TSP Lung(10;0.080)				NTRK1_ENST00000392302.2_Intron|NTRK1_ENST00000358660.3_Missense_Mutation_p.P63S|NTRK1_ENST00000524377.1_Missense_Mutation_p.P63S	p.P63S	NM_001012331.1	NP_001012331.1	P04629	NTRK1_HUMAN			1	307	+	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)		63					B2R6T5|B7ZM34|P08119|Q15655|Q15656|Q5D056|Q5VZS2|Q7Z5C3|Q9UIU7	Missense_Mutation	SNP	ENST00000524377.1	37	c.187C>T	CCDS1161.1	.	.	.	.	.	.	.	.	.	.	C	14.40	2.522833	0.44866	.	.	ENSG00000198400	ENST00000368196;ENST00000524377;ENST00000358660	D;D;D	0.89270	-2.49;-2.49;-2.49	4.81	3.84	0.44239	.	0.460721	0.18351	N	0.143866	T	0.73505	0.3595	.	.	.	0.21627	N	0.999615	B;B;B	0.22480	0.003;0.015;0.07	B;B;B	0.12837	0.0;0.004;0.008	T	0.67090	-0.5758	9	0.49607	T	0.09	.	10.9439	0.47289	0.1862:0.8138:0.0:0.0	.	63;63;63	A8K3Z4;P04629-2;P04629	.;.;NTRK1_HUMAN	S	63	ENSP00000357179:P63S;ENSP00000431418:P63S;ENSP00000351486:P63S	ENSP00000351486:P63S	P	+	1	0	NTRK1	155097537	0.588000	0.26799	0.903000	0.35520	0.962000	0.63368	0.896000	0.28377	2.373000	0.80994	0.655000	0.94253	CCC		0.736	NTRK1-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000392279.1	NM_002529		5	7	0	0	0	0.217242	0	5	7					T	156830913	C	T	156830913	3	4	38	1	0	0	0	0	1	0	0	0	10706	739	26	3	319	3	NTRK1	1	156830913	Missense_Mutation	SNP	C	TCGA-CH-5788-01A-11D-1576-08	53286678	156830913	92419708	6	2065											
ZBTB37	84614	broad.mit.edu	37	chr1	173839439	173839439	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgagccatctaaaccagttgCgcatgcagggccgtctctgt	8	10	11	12	2	2	1	0	1	2	0	3	1	2	1	3	1	4	3	3	1	2	2			TCGA-CH-5788-01A-11D-1576-08	TCGA-CH-5788-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e272bea-9193-4c10-a802-f7e18b2937a3	ebc70303-3561-4cf6-a274-8c83d1d5f9bd	g.chr1:173839439C>T	ENST00000367701.5	+	2	267	c.76C>T	c.(76-78)Cgc>Tgc	p.R26C	ZBTB37_ENST00000367704.1_Missense_Mutation_p.R26C|ZBTB37_ENST00000427304.1_Missense_Mutation_p.R26C|ZBTB37_ENST00000367702.1_Missense_Mutation_p.R26C|ZBTB37_ENST00000432989.1_Missense_Mutation_p.R26C|GAS5_ENST00000364084.1_RNA			Q5TC79	ZBT37_HUMAN	zinc finger and BTB domain containing 37	26					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(4)	13						AAACCAGTTGCGCATGCAGGG	0.527																																						ENST00000367704.1																			0				endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(4)	13						c.(76-78)Cgc>Tgc		zinc finger and BTB domain containing 37							80	74	76					1																	173839439		2203	4300	6503	SO:0001583	missense	84614				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:173839439C>T	AK057310	CCDS1312.1, CCDS44278.1	1q24.2	2013-01-08			ENSG00000185278	ENSG00000185278		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	28365	protein-coding gene	gene with protein product						12477932	Standard	NM_032522		Approved	MGC2629, ZNF908	uc009wwp.1	Q5TC79	OTTHUMG00000037274	ENST00000367701.5:c.76C>T	1.37:g.173839439C>T	ENSP00000356674:p.Arg26Cys					ZBTB37_ENST00000432989.1_Missense_Mutation_p.R26C|ZBTB37_ENST00000427304.1_Missense_Mutation_p.R26C|ZBTB37_ENST00000367702.1_Missense_Mutation_p.R26C|ZBTB37_ENST00000367701.4_Missense_Mutation_p.R26C	p.R26C			Q5TC79	ZBT37_HUMAN			3	475	+			26					Q5TC80|Q96M87|Q9BQ88	Missense_Mutation	SNP	ENST00000367701.5	37	c.76C>T	CCDS44278.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.152567	0.78001	.	.	ENSG00000185278	ENST00000367704;ENST00000427304;ENST00000432989;ENST00000367702;ENST00000367701	T;T;T;T;T	0.73152	-0.72;-0.72;-0.72;-0.72;-0.72	5.6	4.68	0.58851	BTB/POZ (1);BTB/POZ fold (2);	0.098719	0.64402	D	0.000001	D	0.85405	0.5689	M	0.92833	3.35	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.997;1.0	D	0.89855	0.4012	10	0.87932	D	0	.	16.5059	0.84272	0.0:0.869:0.131:0.0	.	26;26	Q5TC79;Q5TC79-2	ZBT37_HUMAN;.	C	26	ENSP00000356677:R26C;ENSP00000415293:R26C;ENSP00000409408:R26C;ENSP00000356675:R26C;ENSP00000356674:R26C	ENSP00000356674:R26C	R	+	1	0	ZBTB37	172106062	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.818000	0.86416	1.350000	0.45770	0.563000	0.77884	CGC		0.527	ZBTB37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090729.2	NM_032522		4	108	0	0	0	0.150653	0	4	108					T	173839439	C	T	173839439	3	4	38	1	0	0	0	0	1	0	0	0	17535	768	27	1	78	1	ZBTB37	1	173839439	Missense_Mutation	SNP	C	TCGA-CH-5788-01A-11D-1576-08	17008526	173839439	75411182	7	2066											
KIF14	9928	broad.mit.edu	37	chr1	200587742	200587742	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tatccgacttcaaatgcagcTtaagtcggctactgtgggtg	9	12	11	9	2	1	0	1	0	0	0	3	1	2	0	1	2	3	3	1	2	4	4			TCGA-CH-5788-01A-11D-1576-08	TCGA-CH-5788-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e272bea-9193-4c10-a802-f7e18b2937a3	ebc70303-3561-4cf6-a274-8c83d1d5f9bd	g.chr1:200587742T>G	ENST00000367350.4	-	2	548	c.110A>C	c.(109-111)aAg>aCg	p.K37T		NM_014875.2	NP_055690.1	Q15058	KIF14_HUMAN	kinesin family member 14	37	Required for PRC1-binding.				ATP catabolic process (GO:0006200)|cytoskeleton-dependent intracellular transport (GO:0030705)|establishment of protein localization (GO:0045184)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|negative regulation of integrin activation (GO:0033624)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of Rap protein signal transduction (GO:0032487)|substrate adhesion-dependent cell spreading (GO:0034446)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|PDZ domain binding (GO:0030165)	p.K37T(1)		NS(1)|breast(5)|central_nervous_system(2)|endometrium(8)|kidney(8)|large_intestine(15)|lung(13)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	61						CAAATGCAGCTTAAGTCGGCT	0.368																																						ENST00000367350.4																			1	Substitution - Missense(1)	p.K37T(1)	prostate(1)	NS(1)|breast(5)|central_nervous_system(2)|endometrium(8)|kidney(8)|large_intestine(15)|lung(13)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	61						c.(109-111)aAg>aCg		kinesin family member 14							98	91	93					1																	200587742		2203	4300	6503	SO:0001583	missense	9928				microtubule-based movement	cytoplasm|microtubule|nucleus|spindle	ATP binding|microtubule motor activity|protein binding	g.chr1:200587742T>G	D26361	CCDS30963.1	1q32.1	2008-03-03			ENSG00000118193	ENSG00000118193		"Kinesins"	19181	protein-coding gene	gene with protein product		611279				7584044	Standard	NM_014875		Approved	KIAA0042	uc010ppk.1	Q15058	OTTHUMG00000035723	ENST00000367350.4:c.110A>C	1.37:g.200587742T>G	ENSP00000356319:p.Lys37Thr						p.K37T	NM_014875.2	NP_055690.1	Q15058	KIF14_HUMAN			2	548	-			37			Required for PRC1-binding.		Q14CI8|Q4G0A5|Q5T1W3	Missense_Mutation	SNP	ENST00000367350.4	37	c.110A>C	CCDS30963.1	.	.	.	.	.	.	.	.	.	.	T	21.3	4.122250	0.77436	.	.	ENSG00000118193	ENST00000367350	T	0.73789	-0.78	5.95	4.83	0.62350	.	0.782006	0.12090	N	0.500465	T	0.59555	0.2202	N	0.24115	0.695	0.09310	N	1	P	0.38922	0.651	B	0.38428	0.273	T	0.49908	-0.8889	10	0.33141	T	0.24	.	7.2159	0.25959	0.0:0.1593:0.0:0.8407	.	37	Q15058	KIF14_HUMAN	T	37	ENSP00000356319:K37T	ENSP00000356319:K37T	K	-	2	0	KIF14	198854365	0.162000	0.22906	0.009000	0.14445	0.889000	0.51656	3.623000	0.54224	2.277000	0.76020	0.533000	0.62120	AAG		0.368	KIF14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086878.1	NM_014875		48	161	0	0	0	0.870114	0	48	161					G	200587742	T	G	200587742	3	3	38	1	0	0	0	0	1	0	0	0	8276	1609	56	5	4952	5	KIF14	1	200587742	Missense_Mutation	SNP	T	TCGA-CH-5788-01A-11D-1576-08	26748303	200587742	48662879	8	2067											
LGR6	59352	broad.mit.edu	37	chr1	202245638	202245638	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gcgttccagaatctcaccagCcttgtggtgctgtgagtgct	6	12	12	11	1	1	2	1	1	1	1	3	2	2	2	3	1	3	3	3	1	1	2			TCGA-CH-5788-01A-11D-1576-08	TCGA-CH-5788-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e272bea-9193-4c10-a802-f7e18b2937a3	ebc70303-3561-4cf6-a274-8c83d1d5f9bd	g.chr1:202245638C>T	ENST00000367278.3	+	5	722	c.633C>T	c.(631-633)agC>agT	p.S211S	LGR6_ENST00000255432.7_Silent_p.S159S|LGR6_ENST00000439764.2_Intron|LGR6_ENST00000308543.3_3'UTR	NM_001017403.1	NP_001017403.1	Q9HBX8	LGR6_HUMAN	leucine-rich repeat containing G protein-coupled receptor 6	211					G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell migration (GO:0030335)|positive regulation of Wnt signaling pathway (GO:0030177)|Wnt signaling pathway (GO:0016055)	integral component of plasma membrane (GO:0005887)|trans-Golgi network membrane (GO:0032588)|vesicle (GO:0031982)	transmembrane signaling receptor activity (GO:0004888)	p.S211S(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	36						ATCTCACCAGCCTTGTGGTGC	0.617																																						ENST00000367278.3																			1	Substitution - coding silent(1)	p.S211S(1)	prostate(1)	breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	36						c.(631-633)agC>agT		leucine-rich repeat containing G protein-coupled receptor 6							57	46	50					1																	202245638		2203	4300	6503	SO:0001819	synonymous_variant	59352					integral to membrane|plasma membrane	protein-hormone receptor activity	g.chr1:202245638C>T	AF190501	CCDS1424.1, CCDS30971.1, CCDS30972.1	1q32.1	2012-08-21	2011-01-25		ENSG00000133067	ENSG00000133067		"GPCR / Class A : Orphans"	19719	protein-coding gene	gene with protein product		606653	"leucine-rich repeat-containing G protein-coupled receptor 6"			10935549	Standard	XM_005245404		Approved	FLJ14471	uc001gxu.3	Q9HBX8	OTTHUMG00000041383	ENST00000367278.3:c.633C>T	1.37:g.202245638C>T						LGR6_ENST00000255432.7_Silent_p.S159S|LGR6_ENST00000439764.2_Intron|LGR6_ENST00000308543.3_3'UTR	p.S211S	NM_001017403.1	NP_001017403.1	Q9HBX8	LGR6_HUMAN			5	722	+			211					Q5T509|Q5T512|Q6UY15|Q86VU0|Q96K69|Q9BYD7	Silent	SNP	ENST00000367278.3	37	c.633C>T	CCDS30971.1																																																																																				0.617	LGR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000099143.1	NM_021636		12	19	0	0	0	0.500413	0	12	19					T	202245638	C	T	202245638	2	4	38	1	0	0	0	0	0	0	0	1	8758	738	26	3		3	LGR6	1	202245638	Silent	SNP	C	TCGA-CH-5788-01A-11D-1576-08	1657896	202245638	47004983	9	2068											
ASAP2	8853	broad.mit.edu	37	chr2	9484930	9484930	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgaccatatcccatggtaccGtaagtattctcttttaatcc	10	15	5	11	1	1	1	0	1	1	0	4	1	3	1	4	1	1	3	4	1	5	7			TCGA-CH-5788-01A-11D-1576-08	TCGA-CH-5788-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e272bea-9193-4c10-a802-f7e18b2937a3	ebc70303-3561-4cf6-a274-8c83d1d5f9bd	g.chr2:9484930G>A	ENST00000281419.3	+	11	1363		c.e11+1		ASAP2_ENST00000315273.4_Splice_Site	NM_003887.2	NP_003878.1	O43150	ASAP2_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 2						positive regulation of catalytic activity (GO:0043085)|regulation of ARF GTPase activity (GO:0032312)	Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	ARF GTPase activator activity (GO:0008060)|enzyme activator activity (GO:0008047)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	36						CCATGGTACCGTAAGTATTCT	0.423																																						ENST00000281419.3																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	36						c.e11+1		ArfGAP with SH3 domain, ankyrin repeat and PH domain 2							121	110	114					2																	9484930		2203	4300	6503	SO:0001630	splice_region_variant	8853				regulation of ARF GTPase activity	Golgi cisterna membrane|plasma membrane	ARF GTPase activator activity|protein binding|zinc ion binding	g.chr2:9484930G>A	AB007860	CCDS1661.1, CCDS46224.1	2p24	2013-01-10	2008-09-22	2008-09-22	ENSG00000151693	ENSG00000151693		"ADP-ribosylation factor GTPase activating proteins", "Pleckstrin homology (PH) domain containing", "Ankyrin repeat domain containing"	2721	protein-coding gene	gene with protein product	"centaurin, beta 3"	603817	"development and differentiation enhancing factor 2"	DDEF2		10022920, 9455477	Standard	NM_003887		Approved	KIAA0400, PAP, SHAG1, CENTB3	uc002qzh.2	O43150	OTTHUMG00000117485	ENST00000281419.3:c.1023+1G>A	2.37:g.9484930G>A						ASAP2_ENST00000315273.4_Splice_Site		NM_003887.2	NP_003878.1	O43150	ASAP2_HUMAN			11	1363	+								D6W4Y8	Splice_Site	SNP	ENST00000281419.3	37		CCDS1661.1	.	.	.	.	.	.	.	.	.	.	G	33	5.247931	0.95305	.	.	ENSG00000151693	ENST00000281419;ENST00000315273	.	.	.	5.73	5.73	0.89815	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.8942	0.96945	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ASAP2	9402381	1.000000	0.71417	0.997000	0.53966	0.979000	0.70002	9.458000	0.97634	2.692000	0.91855	0.655000	0.94253	.		0.423	ASAP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000237522.1	NM_003887	Intron	4	117	0	0	0	0.150653	0	4	117					A	9484930	G	A	9484930	5	1	38	1	0	0	0	0	0	0	1	0	1011	1159	40	1	1066	1	ASAP2	2	9484930	Splice_Site	SNP	G	TCGA-CH-5788-01A-11D-1576-08		9484930	233714443	10	2069											
ALK	238	broad.mit.edu	37	chr2	29450529	29450529	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cggggtcattgtttgaggctGcattgccgcctgagtagcaa	7	11	14	9	2	1	2	1	2	0	0	1	2	1	2	2	3	3	5	2	3	2	4			TCGA-CH-5788-01A-11D-1576-08	TCGA-CH-5788-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e272bea-9193-4c10-a802-f7e18b2937a3	ebc70303-3561-4cf6-a274-8c83d1d5f9bd	g.chr2:29450529G>A	ENST00000389048.3	-	17	3731	c.2825C>T	c.(2824-2826)gCa>gTa	p.A942V	ALK_ENST00000431873.1_Intron	NM_004304.4	NP_004295.2	Q9UM73	ALK_HUMAN	anaplastic lymphoma receptor tyrosine kinase	942					activation of MAPK activity (GO:0000187)|cell proliferation (GO:0008283)|neuron development (GO:0048666)|NIK/NF-kappaB signaling (GO:0038061)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein autophosphorylation (GO:0046777)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|protein complex (GO:0043234)	ATP binding (GO:0005524)|NF-kappaB-inducing kinase activity (GO:0004704)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)		ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9)	NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2)	340	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)|Crizotinib(DB08865)	GTTTGAGGCTGCATTGCCGCC	0.527			"T, Mis, A"	"NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22"	"ALCL, NSCLC, Neuroblastoma"	neuroblastoma			Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome																													ENST00000389048.3			yes	Dom	yes	Familial neuroblastoma	2	2p23	238	"T, Mis, A"	anaplastic lymphoma kinase (Ki-1)			"L, E, M"	"NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22"	neuroblastoma	"ALCL, NSCLC, Neuroblastoma"	ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9)	0				NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2)	340						c.(2824-2826)gCa>gTa		anaplastic lymphoma receptor tyrosine kinase	Adenosine triphosphate(DB00171)						156	144	148					2																	29450529		2203	4300	6503	SO:0001583	missense	238	Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome	Familial Cancer Database	Familial Neuroblastoma;CCHS, Ondine Curse, incl. Ondine-Hirschsprung Disease	protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity	g.chr2:29450529G>A	D45915	CCDS33172.1	2p23	2014-09-17	2008-01-23		ENSG00000171094	ENSG00000171094		"CD molecules"	427	protein-coding gene	gene with protein product		105590	"anaplastic lymphoma kinase (Ki-1)"			8122112	Standard	NM_004304		Approved	CD246	uc002rmy.3	Q9UM73	OTTHUMG00000152034	ENST00000389048.3:c.2825C>T	2.37:g.29450529G>A	ENSP00000373700:p.Ala942Val					ALK_ENST00000431873.1_Intron	p.A942V	NM_004304.4	NP_004295.2	Q9UM73	ALK_HUMAN			17	3731	-	Acute lymphoblastic leukemia(172;0.155)		942					Q4ZFX9|Q53QQ6|Q53RZ4|Q59FI3|Q9Y4K6	Missense_Mutation	SNP	ENST00000389048.3	37	c.2825C>T	CCDS33172.1	.	.	.	.	.	.	.	.	.	.	G	29.8	5.039826	0.93630	.	.	ENSG00000171094	ENST00000389048	T	0.53206	0.63	4.86	4.86	0.63082	.	0.000000	0.45867	U	0.000338	T	0.64864	0.2637	L	0.53561	1.675	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.63879	-0.6537	9	.	.	.	.	17.9844	0.89152	0.0:0.0:1.0:0.0	.	942	Q9UM73	ALK_HUMAN	V	942	ENSP00000373700:A942V	.	A	-	2	0	ALK	29304033	1.000000	0.71417	0.986000	0.45419	0.873000	0.50193	9.515000	0.98015	2.231000	0.72958	0.561000	0.74099	GCA		0.527	ALK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324994.1	NM_004304		4	179	0	0	0	0.184627	0	4	179					A	29450529	G	A	29450529	3	1	38	1	0	0	0	0	1	0	0	0	525	1319	46	3	2089	3	ALK	2	29450529	Missense_Mutation	SNP	G	TCGA-CH-5788-01A-11D-1576-08	19965599	29450529	213748844	11	2070											
STAMBP	10617	broad.mit.edu	37	chr2	74072296	74072296	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttctgttttgtgtctcagaaAttaaaggagattgcatttcc	10	17	8	6	0	2	2	1	0	2	2	4	3	3	2	1	1	1	2	1	1	3	6			TCGA-CH-5788-01A-11D-1576-08	TCGA-CH-5788-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e272bea-9193-4c10-a802-f7e18b2937a3	ebc70303-3561-4cf6-a274-8c83d1d5f9bd	g.chr2:74072296A>G	ENST00000394070.2	+	4	785	c.282A>G	c.(280-282)aaA>aaG	p.K94K	STAMBP_ENST00000536064.1_Silent_p.K94K|STAMBP_ENST00000339566.3_Silent_p.K94K|STAMBP_ENST00000409707.1_Silent_p.K94K|STAMBP_ENST00000394073.1_Silent_p.K94K	NM_213622.2	NP_998787.1	O95630	STABP_HUMAN	STAM binding protein	94	Interaction with CHMP3.				JAK-STAT cascade (GO:0007259)|mitotic cytokinesis (GO:0000281)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of cell proliferation (GO:0008284)|protein deubiquitination (GO:0016579)	cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|ubiquitin-specific protease activity (GO:0004843)	p.K94K(1)		NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	18						TGTCTCAGAAATTAAAGGAGA	0.343																																						ENST00000394070.2																			1	Substitution - coding silent(1)	p.K94K(1)	prostate(1)	NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	18						c.(280-282)aaA>aaG		STAM binding protein							47	49	49					2																	74072296		2202	4299	6501	SO:0001819	synonymous_variant	10617				JAK-STAT cascade|positive regulation of cell proliferation	early endosome|membrane|nucleus	metal ion binding|metallopeptidase activity|protein binding	g.chr2:74072296A>G	BC007682	CCDS1929.1	2p24.3-p24.1	2008-02-05			ENSG00000124356	ENSG00000124356			16950	protein-coding gene	gene with protein product		606247				10383417	Standard	NM_006463		Approved	AMSH	uc002sjs.3	O95630	OTTHUMG00000129817	ENST00000394070.2:c.282A>G	2.37:g.74072296A>G						STAMBP_ENST00000409707.1_Silent_p.K94K|STAMBP_ENST00000394073.1_Silent_p.K94K|STAMBP_ENST00000339566.3_Silent_p.K94K|STAMBP_ENST00000536064.1_Silent_p.K94K	p.K94K	NM_213622.2	NP_998787.1	O95630	STABP_HUMAN			4	785	+			94			Interaction with CHMP3.		B5M0B6|D6W5H7|Q3MJE7	Silent	SNP	ENST00000394070.2	37	c.282A>G	CCDS1929.1																																																																																				0.343	STAMBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252048.2	NM_006463		41	53	0	0	0	0.840704	0	41	53					G	74072296	A	G	74072296	2	3	38	1	0	0	0	0	0	0	0	1	15249	98	4	4		4	STAMBP	2	74072296	Silent	SNP	A	TCGA-CH-5788-01A-11D-1576-08	44621767	74072296	169127077	12	2071											
LRRTM4	80059	broad.mit.edu	37	chr2	77746838	77746838	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aatgttctcagggatatctgCgaaagcatgagactcacagt	13	10	10	8	1	3	1	2	1	2	1	4	4	3	2	0	1	2	2	0	1	3	2	rs141419994		TCGA-CH-5788-01A-11D-1576-08	TCGA-CH-5788-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e272bea-9193-4c10-a802-f7e18b2937a3	ebc70303-3561-4cf6-a274-8c83d1d5f9bd	g.chr2:77746838C>T	ENST00000409093.1	-	3	493	c.157G>A	c.(157-159)Gca>Aca	p.A53T	LRRTM4_ENST00000409088.3_Missense_Mutation_p.A53T|LRRTM4_ENST00000409884.1_Missense_Mutation_p.A53T|LRRTM4_ENST00000409282.1_Missense_Mutation_p.A54T|LRRTM4_ENST00000409911.1_Missense_Mutation_p.A54T			Q86VH4	LRRT4_HUMAN	leucine rich repeat transmembrane neuronal 4	53	LRRNT.				alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor clustering (GO:0097113)|regulation of presynaptic membrane organization (GO:1901629)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)				autonomic_ganglia(1)|endometrium(1)|large_intestine(6)|lung(49)|ovary(2)|pancreas(3)|prostate(1)|upper_aerodigestive_tract(1)	64				Colorectal(11;0.059)		GGGATATCTGCGAAAGCATGA	0.463													C|||	1	0.000199681	0	0	5008	,	,		18599	0.001		0	False		,,,				2504	0					ENST00000409088.3																			0				autonomic_ganglia(1)|endometrium(1)|large_intestine(6)|lung(49)|ovary(2)|pancreas(3)|prostate(1)|upper_aerodigestive_tract(1)	64						c.(157-159)Gca>Aca		leucine rich repeat transmembrane neuronal 4							116	111	113					2																	77746838		1971	4155	6126	SO:0001583	missense	80059					integral to membrane		g.chr2:77746838C>T	AK122612	CCDS46346.1, CCDS46347.1, CCDS74530.1	2p12	2008-02-05			ENSG00000176204	ENSG00000176204			19411	protein-coding gene	gene with protein product		610870				12676565	Standard	NM_024993		Approved	FLJ12568	uc002snr.3	Q86VH4	OTTHUMG00000152842	ENST00000409093.1:c.157G>A	2.37:g.77746838C>T	ENSP00000386357:p.Ala53Thr					LRRTM4_ENST00000409884.1_Missense_Mutation_p.A53T|LRRTM4_ENST00000409282.1_Missense_Mutation_p.A54T|LRRTM4_ENST00000409911.1_Missense_Mutation_p.A54T|LRRTM4_ENST00000409093.1_Missense_Mutation_p.A53T	p.A53T	NM_024993.4	NP_079269.4	Q86VH4	LRRT4_HUMAN		Colorectal(11;0.059)	3	571	-			53			LRRNT.		Q4FZ98|Q6UXJ7	Missense_Mutation	SNP	ENST00000409093.1	37	c.157G>A	CCDS46346.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	6.276	0.419030	0.11870	.	.	ENSG00000176204	ENST00000409911;ENST00000409884;ENST00000409093;ENST00000409088;ENST00000409282	T;T;T;T;T	0.03801	3.8;3.8;3.8;3.8;3.8	5.72	1.86	0.25419	Leucine-rich repeat-containing N-terminal (1);	0.202722	0.43747	N	0.000521	T	0.02047	0.0064	N	0.10782	0.045	0.24412	N	0.994658	B;B;B	0.31625	0.103;0.165;0.332	B;B;B	0.28709	0.043;0.093;0.068	T	0.46693	-0.9173	10	0.02654	T	1	.	8.5601	0.33505	0.0:0.5149:0.0:0.4851	.	54;53;53	Q4KMX1;Q86VH4-2;Q86VH4	.;.;LRRT4_HUMAN	T	54;53;53;53;54	ENSP00000387228:A54T;ENSP00000387297:A53T;ENSP00000386357:A53T;ENSP00000386236:A53T;ENSP00000386286:A54T	ENSP00000386236:A53T	A	-	1	0	LRRTM4	77600346	1.000000	0.71417	0.927000	0.36925	0.994000	0.84299	1.359000	0.34113	0.062000	0.16340	-0.136000	0.14681	GCA		0.463	LRRTM4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000328225.1	NM_024993		4	177	0	0	0	0.184627	0	4	177					T	77746838	C	T	77746838	3	4	38	1	0	0	0	0	1	0	0	0	9042	768	27	1	1629	1	LRRTM4	2	77746838	Missense_Mutation	SNP	C	TCGA-CH-5788-01A-11D-1576-08	3674542	77746838	165452535	13	2072											
HJURP	55355	broad.mit.edu	37	chr2	234756069	234756069	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	ggcccaagcaactgactcttCctggtctgacgtggcatcga	8	9	11	13	2	2	2	0	2	2	0	4	3	3	2	2	3	2	2	2	3	2	1			TCGA-CH-5788-01A-11D-1576-08	TCGA-CH-5788-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e272bea-9193-4c10-a802-f7e18b2937a3	ebc70303-3561-4cf6-a274-8c83d1d5f9bd	g.chr2:234756069C>G	ENST00000411486.2	-	5	441	c.376G>C	c.(376-378)Gaa>Caa	p.E126Q	HJURP_ENST00000441687.1_Intron|HJURP_ENST00000434039.1_5'Flank|HJURP_ENST00000432087.1_Intron	NM_018410.3	NP_060880.3	Q8NCD3	HJURP_HUMAN	Holliday junction recognition protein	126					cell cycle (GO:0007049)|CENP-A containing nucleosome assembly (GO:0034080)|chromosome segregation (GO:0007059)|nucleosome assembly (GO:0006334)|regulation of DNA binding (GO:0051101)|regulation of protein complex assembly (GO:0043254)	chromosome, centromeric region (GO:0000775)|condensed chromosome kinetochore (GO:0000777)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone binding (GO:0042393)|identical protein binding (GO:0042802)	p.E126Q(1)		NS(2)|breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(3)|lung(11)|ovary(2)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38		Breast(86;0.00204)|all_lung(227;0.00433)|Renal(207;0.00685)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0719)|Lung SC(224;0.128)		Epithelial(121;2.01e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000186)|Lung(119;0.00521)|LUSC - Lung squamous cell carcinoma(224;0.00829)		ACTGACTCTTCCTGGTCTGAC	0.488																																						ENST00000411486.2																			1	Substitution - Missense(1)	p.E126Q(1)	prostate(1)	NS(2)|breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(3)|lung(11)|ovary(2)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						c.(376-378)Gaa>Caa		Holliday junction recognition protein							119	100	107					2																	234756069		2203	4300	6503	SO:0001583	missense	55355				cell cycle|CenH3-containing nucleosome assembly at centromere|centromeric core chromatin assembly|chromosome segregation|regulation of DNA binding|regulation of protein complex assembly	condensed chromosome kinetochore|cytoplasm|nucleolus|nucleoplasm	DNA binding|histone binding	g.chr2:234756069C>G		CCDS33406.1, CCDS63166.1, CCDS63167.1	2q37.1	2007-12-06			ENSG00000123485	ENSG00000123485			25444	protein-coding gene	gene with protein product		612667				17823411	Standard	NM_001282962		Approved	DKFZp762E1312, URLC9, hFLEG1, FAKTS	uc002vvg.3	Q8NCD3	OTTHUMG00000059125	ENST00000411486.2:c.376G>C	2.37:g.234756069C>G	ENSP00000414109:p.Glu126Gln					HJURP_ENST00000441687.1_Intron|HJURP_ENST00000432087.1_Intron	p.E126Q	NM_018410.3	NP_060880.3	Q8NCD3	HJURP_HUMAN		Epithelial(121;2.01e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000186)|Lung(119;0.00521)|LUSC - Lung squamous cell carcinoma(224;0.00829)	5	441	-		Breast(86;0.00204)|all_lung(227;0.00433)|Renal(207;0.00685)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0719)|Lung SC(224;0.128)	126					A8IRH5|B4DWR0|B4DZV4|Q9BUT2|Q9NSL8	Missense_Mutation	SNP	ENST00000411486.2	37	c.376G>C	CCDS33406.1	.	.	.	.	.	.	.	.	.	.	C	11.69	1.712898	0.30413	.	.	ENSG00000123485	ENST00000411486;ENST00000454020	T;T	0.36157	3.11;1.27	3.14	3.14	0.36123	.	.	.	.	.	T	0.46852	0.1414	L	0.50333	1.59	0.30667	N	0.753772	D	0.76494	0.999	P	0.61275	0.886	T	0.40664	-0.9551	9	0.37606	T	0.19	-0.7578	10.0582	0.42259	0.0:1.0:0.0:0.0	.	126	Q8NCD3	HJURP_HUMAN	Q	126;85	ENSP00000414109:E126Q;ENSP00000414051:E85Q	ENSP00000414109:E126Q	E	-	1	0	HJURP	234420808	0.001000	0.12720	0.013000	0.15412	0.172000	0.22775	1.238000	0.32707	2.078000	0.62432	0.655000	0.94253	GAA		0.488	HJURP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000130996.6	NM_018410		7	128	0	0	0	0.307466	0	7	128					G	234756069	C	G	234756069	3	3	38	1	0	0	0	0	1	0	0	0	7189	864	30	5	1890	5	HJURP	2	234756069	Missense_Mutation	SNP	C	TCGA-CH-5788-01A-11D-1576-08	157009231	234756069	8443304	14	2073											
SUMF1	285362	broad.mit.edu	37	chr3	4458835	4458835	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cgcagttccttggaagccatCctcaccagtgttggtcaccg	7	10	10	14	2	2	0	2	0	0	0	4	1	4	1	5	2	1	3	5	2	1	3			TCGA-CH-5788-01A-11D-1576-08	TCGA-CH-5788-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e272bea-9193-4c10-a802-f7e18b2937a3	ebc70303-3561-4cf6-a274-8c83d1d5f9bd	g.chr3:4458835C>T	ENST00000272902.5	-	6	852	c.817G>A	c.(817-819)Gat>Aat	p.D273N	SUMF1_ENST00000458465.2_Intron|SUMF1_ENST00000405420.2_Missense_Mutation_p.D273N|SUMF1_ENST00000383843.5_Missense_Mutation_p.D248N|SUMF1_ENST00000534863.1_Missense_Mutation_p.D273N	NM_182760.3	NP_877437.2	Q8NBK3	SUMF1_HUMAN	sulfatase modifying factor 1	273					cellular protein metabolic process (GO:0044267)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum lumen (GO:0005788)	metal ion binding (GO:0046872)|oxidoreductase activity (GO:0016491)			breast(1)|endometrium(1)|large_intestine(2)|lung(5)|prostate(1)|upper_aerodigestive_tract(3)	13		Melanoma(143;0.068)|Colorectal(144;0.233)		Epithelial(13;0.0147)|OV - Ovarian serous cystadenocarcinoma(96;0.0444)|all cancers(10;0.0549)		TGGAAGCCATCCTCACCAGTG	0.552																																						ENST00000272902.5																			0				breast(1)|endometrium(1)|large_intestine(2)|lung(5)|prostate(1)|upper_aerodigestive_tract(3)	13						c.(817-819)Gat>Aat		sulfatase modifying factor 1							204	180	188					3																	4458835		2203	4300	6503	SO:0001583	missense	285362					endoplasmic reticulum lumen	metal ion binding|oxidoreductase activity	g.chr3:4458835C>T	BC017005	CCDS2564.1, CCDS54548.1, CCDS54549.1	3p26.1	2009-07-23			ENSG00000144455	ENSG00000144455			20376	protein-coding gene	gene with protein product		607939				12757705, 12757706	Standard	NM_182760		Approved	FGE, UNQ3037	uc003bpz.2	Q8NBK3	OTTHUMG00000090269	ENST00000272902.5:c.817G>A	3.37:g.4458835C>T	ENSP00000272902:p.Asp273Asn					SUMF1_ENST00000405420.2_Missense_Mutation_p.D273N|SUMF1_ENST00000383843.5_Missense_Mutation_p.D248N|SUMF1_ENST00000534863.1_Missense_Mutation_p.D273N|SUMF1_ENST00000458465.2_Intron	p.D273N	NM_182760.3	NP_877437.2	Q8NBK3	SUMF1_HUMAN		Epithelial(13;0.0147)|OV - Ovarian serous cystadenocarcinoma(96;0.0444)|all cancers(10;0.0549)	6	852	-		Melanoma(143;0.068)|Colorectal(144;0.233)	273					B4DXK5|B7XD05|E9PGL0|G5E9B0|Q0VAC6|Q0VAC7|Q2NL78|Q53ZE4|Q6UY39|Q96AK5|Q96DK8	Missense_Mutation	SNP	ENST00000272902.5	37	c.817G>A	CCDS2564.1	.	.	.	.	.	.	.	.	.	.	C	34	5.394273	0.96009	.	.	ENSG00000144455	ENST00000534982;ENST00000534863;ENST00000272902;ENST00000383843;ENST00000405420	D;D;D;D	0.94828	-3.53;-3.53;-3.53;-3.53	5.81	5.81	0.92471	C-type lectin fold (1);Formylglycine-generating sulphatase enzyme domain (2);	0.000000	0.85682	D	0.000000	D	0.97670	0.9236	M	0.86502	2.82	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;1.0	D	0.97994	1.0356	10	0.72032	D	0.01	-14.9871	18.854	0.92244	0.0:1.0:0.0:0.0	.	248;273;273	G5E9B0;E9PGL0;Q8NBK3	.;.;SUMF1_HUMAN	N	273;273;273;248;273	ENSP00000440421:D273N;ENSP00000272902:D273N;ENSP00000373355:D248N;ENSP00000384977:D273N	ENSP00000272902:D273N	D	-	1	0	SUMF1	4433835	1.000000	0.71417	0.955000	0.39395	0.972000	0.66771	6.929000	0.75852	2.746000	0.94184	0.655000	0.94253	GAT		0.552	SUMF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206591.2	NM_182760		7	403	0	0	0	0.248553	0	7	403					T	4458835	C	T	4458835	3	4	38	1	0	0	0	0	1	0	0	0	15382	855	30	3	323	3	SUMF1	3	4458835	Missense_Mutation	SNP	C	TCGA-CH-5788-01A-11D-1576-08		4458835	193563595	15	2074											
MAP4	4134	broad.mit.edu	37	chr3	47963256	47963256	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccatttgaagaagccataccGtaactgtctttcaagggatc	12	11	8	10	1	2	2	1	1	1	1	3	3	2	3	3	1	3	1	3	1	5	4			TCGA-CH-5788-01A-11D-1576-08	TCGA-CH-5788-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e272bea-9193-4c10-a802-f7e18b2937a3	ebc70303-3561-4cf6-a274-8c83d1d5f9bd	g.chr3:47963256G>A	ENST00000360240.6	-	5	1046	c.528C>T	c.(526-528)taC>taT	p.Y176Y	MAP4_ENST00000395734.3_Splice_Site_p.Y176Y|MAP4_ENST00000426837.2_Splice_Site_p.Y193Y|MAP4_ENST00000383737.4_Splice_Site_p.Y176Y	NM_002375.4	NP_002366.2	P27816	MAP4_HUMAN	microtubule-associated protein 4	176					cell division (GO:0051301)|establishment of spindle orientation (GO:0051294)|microtubule sliding (GO:0051012)|mitotic spindle organization (GO:0007052)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|microtubule cytoskeleton (GO:0015630)|mitotic spindle (GO:0072686)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|structural molecule activity (GO:0005198)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(2)	32				BRCA - Breast invasive adenocarcinoma(193;0.000721)|KIRC - Kidney renal clear cell carcinoma(197;0.00641)|Kidney(197;0.00736)	Docetaxel(DB01248)|Paclitaxel(DB01229)	AAGCCATACCGTAACTGTCTT	0.393																																						ENST00000426837.2																			0				breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(2)	32						c.e6+1		microtubule-associated protein 4							101	93	96					3																	47963256		2203	4300	6503	SO:0001630	splice_region_variant	4134				negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity	g.chr3:47963256G>A		CCDS33750.1, CCDS46818.1, CCDS46821.1	3p21	2008-07-18			ENSG00000047849	ENSG00000047849			6862	protein-coding gene	gene with protein product		157132				1905296	Standard	NM_002375		Approved		uc003csb.2	P27816	OTTHUMG00000156828	ENST00000360240.6:c.529+1C>T	3.37:g.47963256G>A						MAP4_ENST00000360240.6_Splice_Site_p.Y176_splice|MAP4_ENST00000383737.4_Splice_Site_p.Y176_splice|MAP4_ENST00000395734.3_Splice_Site_p.Y176_splice	p.Y193_splice			P27816	MAP4_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000721)|KIRC - Kidney renal clear cell carcinoma(197;0.00641)|Kidney(197;0.00736)	6	666	-			176					Q13082|Q59FT2|Q68D74|Q6ZUW9|Q86V26|Q96A76|Q96NS9	Splice_Site	SNP	ENST00000360240.6	37	c.580_splice	CCDS33750.1																																																																																				0.393	MAP4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000346085.1	NM_002375	Silent	4	165	0	0	0	0.150653	0	4	165					A	47963256	G	A	47963256	5	1	38	1	0	0	0	0	0	0	1	0	9258	1159	40	1	4349	1	MAP4	3	47963256	Splice_Site	SNP	G	TCGA-CH-5788-01A-11D-1576-08	43504421	47963256	150059174	16	2075											
MAPKAPK3	7867	broad.mit.edu	37	chr3	50655021	50655042	+	Frame_Shift_Del	DEL	CAGGGGGGCCCTGTGCCCCCGC	CAGGGGGGCCCTGTGCCCCCGC	-																															atggtgaaacagcagaggagCaggggggccctgtgcccccg																								rs149349769|rs147044454|rs372994175		TCGA-CH-5788-01A-11D-1576-08	TCGA-CH-5788-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e272bea-9193-4c10-a802-f7e18b2937a3	ebc70303-3561-4cf6-a274-8c83d1d5f9bd	g.chr3:50655021_50655042delCAGGGGGGCCCTGTGCCCCCGC	ENST00000446044.1	+	4	621_642	c.25_46delCAGGGGGGCCCTGTGCCCCCGC	c.(25-48)caggggggccctgtgcccccgccafs	p.QGGPVPPP9fs	MAPKAPK3_ENST00000357955.2_Frame_Shift_Del_p.QGGPVPPP9fs	NM_001243926.1	NP_001230855.1	Q16644	MAPK3_HUMAN	mitogen-activated protein kinase-activated protein kinase 3	9					activation of MAPK activity (GO:0000187)|innate immune response (GO:0045087)|macropinocytosis (GO:0044351)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|Ras protein signal transduction (GO:0007265)|response to cytokine (GO:0034097)|response to lipopolysaccharide (GO:0032496)|response to stress (GO:0006950)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|MAP kinase kinase activity (GO:0004708)|protein serine/threonine kinase activity (GO:0004674)			central_nervous_system(1)|ovary(1)	2				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.0188)|Kidney(197;0.0223)		AGCAGAGGAGCAGGGGGGCCCTGTGCCCCCGCCAGTTGCACC	0.698																																						ENST00000446044.1																			0				central_nervous_system(1)|ovary(1)	2						c.(25-48)cafs		mitogen-activated protein kinase-activated protein kinase 3																																				SO:0001589	frameshift_variant	7867				activation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|Ras protein signal transduction|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|MAP kinase kinase activity|protein serine/threonine kinase activity	g.chr3:50655021_50655042delCAGGGGGGCCCTGTGCCCCCGC	U43784	CCDS2832.1	3p21.3	2004-03-10			ENSG00000114738	ENSG00000114738			6888	protein-coding gene	gene with protein product		602130				8626550, 8622688	Standard	NM_004635		Approved	3pK, MAPKAP3, 3PK	uc003dba.2	Q16644	OTTHUMG00000156850	ENST00000446044.1:c.25_46delCAGGGGGGCCCTGTGCCCCCGC	3.37:g.50655021_50655042delCAGGGGGGCCCTGTGCCCCCGC	ENSP00000396467:p.Gln9fs					MAPKAPK3_ENST00000357955.2_Frame_Shift_Del_p.QGGPVPPP9fs	p.QGGPVPPP9fs	NM_001243926.1	NP_001230855.1	Q16644	MAPK3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.0188)|Kidney(197;0.0223)	4	621_642	+			9					B5BU67	Frame_Shift_Del	DEL	ENST00000446044.1	37	c.25_46delCAGGGGGGCCCTGTGCCCCCGC	CCDS2832.1																																																																																				0.698	MAPKAPK3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346237.1	NM_004635		9	68						9	68	---	---	---	---	-	50655042	CAGGGGGGCCCTGTGCCCCCGC	-	50655021	7	5	38	1	0	1	0	1	0	0	0	0	9290	711	25	0	27	0	MAPKAPK3	3	50655021	Frame_Shift_Del	DEL	CAGGGGGGCCCTGTGCCCCCGC	TCGA-CH-5788-01A-11D-1576-08	2691765	50655021	147367409	17	2076											
POPDC2	64091	broad.mit.edu	37	chr3	119379078	119379078	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actgaaccagccccacagcaCgcagcacaggtaacctgcac	13	3	8	17	1	0	1	0	1	0	0	0	1	0	1	4	1	6	5	4	1	2	1	rs200871576		TCGA-CH-5788-01A-11D-1576-08	TCGA-CH-5788-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e272bea-9193-4c10-a802-f7e18b2937a3	ebc70303-3561-4cf6-a274-8c83d1d5f9bd	g.chr3:119379078C>G	ENST00000264231.3	-	1	359	c.193G>C	c.(193-195)Gtg>Ctg	p.V65L	POPDC2_ENST00000474523.1_Intron|POPDC2_ENST00000493094.1_Missense_Mutation_p.V65L|POPDC2_ENST00000538678.1_Missense_Mutation_p.V65L|POPDC2_ENST00000468801.1_Missense_Mutation_p.V65L	NM_022135.2	NP_071418.2	Q9HBU9	POPD2_HUMAN	popeye domain containing 2	65					regulation of heart rate (GO:0002027)|regulation of membrane potential (GO:0042391)|sinoatrial node cell development (GO:0060931)	integral component of membrane (GO:0016021)	cAMP binding (GO:0030552)			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	13				GBM - Glioblastoma multiforme(114;0.242)		CCCCACAGCACGCAGCACAGG	0.577																																						ENST00000493094.1																			0				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	13						c.(193-195)Gtg>Ctg		popeye domain containing 2							125	108	114					3																	119379078		2203	4300	6503	SO:0001583	missense	64091					integral to membrane		g.chr3:119379078C>G	AF204173	CCDS2992.1	3q13.33	2004-01-15			ENSG00000121577	ENSG00000121577			17648	protein-coding gene	gene with protein product		605823				10882522	Standard	NM_022135		Approved	POP2	uc031sbc.1	Q9HBU9	OTTHUMG00000159438	ENST00000264231.3:c.193G>C	3.37:g.119379078C>G	ENSP00000264231:p.Val65Leu					POPDC2_ENST00000468801.1_Missense_Mutation_p.V65L|POPDC2_ENST00000474523.1_Intron|POPDC2_ENST00000538678.1_Missense_Mutation_p.V65L|POPDC2_ENST00000264231.3_Missense_Mutation_p.V65L	p.V65L			Q9HBU9	POPD2_HUMAN		GBM - Glioblastoma multiforme(114;0.242)	1	652	-			65					Q86UE7	Missense_Mutation	SNP	ENST00000264231.3	37	c.193G>C	CCDS2992.1	.	.	.	.	.	.	.	.	.	.	C	15.79	2.936434	0.52972	.	.	ENSG00000121577	ENST00000264231;ENST00000493094;ENST00000468801;ENST00000538678	T;T;T;T	0.41400	1.0;1.0;1.0;1.0	5.79	3.98	0.46160	.	0.218269	0.46145	N	0.000304	T	0.39172	0.1068	L	0.57536	1.79	0.80722	D	1	B;B	0.21309	0.054;0.032	B;B	0.17722	0.019;0.008	T	0.14839	-1.0458	10	0.30854	T	0.27	.	13.0698	0.59055	0.1289:0.7475:0.1236:0.0	.	65;65	Q9HBU9-2;Q9HBU9	.;POPD2_HUMAN	L	65	ENSP00000264231:V65L;ENSP00000417250:V65L;ENSP00000420715:V65L;ENSP00000438271:V65L	ENSP00000264231:V65L	V	-	1	0	POPDC2	120861768	0.814000	0.29104	0.885000	0.34714	0.996000	0.88848	1.659000	0.37387	0.766000	0.33244	0.655000	0.94253	GTG		0.577	POPDC2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000355378.1	NM_022135		3	127	0	0	0	0.115264	0	3	127					G	119379078	C	G	119379078	3	3	38	1	0	0	0	0	1	0	0	0	12255	536	19	5	917	5	POPDC2	3	119379078	Missense_Mutation	SNP	C	TCGA-CH-5788-01A-11D-1576-08	68724057	119379078	78643352	18	2077											
MSL2	55167	broad.mit.edu	37	chr3	135870947	135870947	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagagtctccaggttttataTcttcactgaaactgcagata	12	13	8	8	0	3	3	1	1	2	2	4	4	3	3	1	1	2	2	1	1	4	5			TCGA-CH-5788-01A-11D-1576-08	TCGA-CH-5788-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e272bea-9193-4c10-a802-f7e18b2937a3	ebc70303-3561-4cf6-a274-8c83d1d5f9bd	g.chr3:135870947T>A	ENST00000309993.2	-	2	1508	c.776A>T	c.(775-777)gAt>gTt	p.D259V	MSL2_ENST00000434835.2_Missense_Mutation_p.D185V	NM_018133.3	NP_060603.2	Q9HCI7	MSL2_HUMAN	male-specific lethal 2 homolog (Drosophila)	259					chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)	MSL complex (GO:0072487)|nucleoplasm (GO:0005654)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)	p.D259V(1)		breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	18						AGGTTTTATATCTTCACTGAA	0.448																																						ENST00000309993.2																			1	Substitution - Missense(1)	p.D259V(1)	prostate(1)	breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	18						c.(775-777)gAt>gTt		male-specific lethal 2 homolog (Drosophila)							58	64	62					3																	135870947		2203	4300	6503	SO:0001583	missense	55167				histone H4-K16 acetylation	MSL complex	zinc ion binding	g.chr3:135870947T>A	AK001408	CCDS33861.1, CCDS46922.1	3q22.2	2008-10-29	2008-10-29	2008-10-29	ENSG00000174579	ENSG00000174579		"RING-type (C3HC4) zinc fingers"	25544	protein-coding gene	gene with protein product	"male-specific lethal-2 homolog (Drosophila)"	614802	"ring finger protein 184", "male-specific lethal 2-like 1 (Drosophila)"	RNF184, MSL2L1		16227571, 16543150	Standard	NM_018133		Approved	FLJ10546, KIAA1585, msl-2	uc003eqx.1	Q9HCI7	OTTHUMG00000159793	ENST00000309993.2:c.776A>T	3.37:g.135870947T>A	ENSP00000311827:p.Asp259Val					MSL2_ENST00000434835.2_Missense_Mutation_p.D185V	p.D259V	NM_018133.3	NP_060603.2	Q9HCI7	MSL2_HUMAN			2	1508	-			259					B4DYL4|G5E9I1|Q0D2P1|Q8NDB4|Q9NVS4	Missense_Mutation	SNP	ENST00000309993.2	37	c.776A>T	CCDS33861.1	.	.	.	.	.	.	.	.	.	.	T	17.32	3.359968	0.61403	.	.	ENSG00000174579	ENST00000309993;ENST00000434835	.	.	.	6.06	6.06	0.98353	.	0.117336	0.56097	D	0.000036	T	0.65626	0.2709	L	0.32530	0.975	0.80722	D	1	D	0.71674	0.998	D	0.63703	0.917	T	0.67910	-0.5548	9	0.62326	D	0.03	-1.3721	15.7905	0.78357	0.0:0.0:0.0:1.0	.	259	Q9HCI7	MSL2_HUMAN	V	259;185	.	ENSP00000311827:D259V	D	-	2	0	MSL2	137353637	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.704000	0.68347	2.324000	0.78689	0.533000	0.62120	GAT		0.448	MSL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357347.1	NM_018133		57	156	0	0	0	0.870114	0	57	156					A	135870947	T	A	135870947	3	1	38	1	0	0	0	0	1	0	0	0	9878	1435	50	5	961	5	MSL2	3	135870947	Missense_Mutation	SNP	T	TCGA-CH-5788-01A-11D-1576-08	16491869	135870947	62151483	19	2078											
SLC9A9	285195	broad.mit.edu	37	chr3	143100949	143100949	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagattttcatccaggtccaCgccaactctgttaaacaaaa	14	10	5	12	1	2	1	1	0	1	1	4	1	4	1	3	1	2	1	3	1	5	3			TCGA-CH-5788-01A-11D-1576-08	TCGA-CH-5788-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e272bea-9193-4c10-a802-f7e18b2937a3	ebc70303-3561-4cf6-a274-8c83d1d5f9bd	g.chr3:143100949C>T	ENST00000316549.6	-	13	1685	c.1477G>A	c.(1477-1479)Gtg>Atg	p.V493M	SLC9A9-AS2_ENST00000490153.1_RNA	NM_173653.3	NP_775924.1	Q8IVB4	SL9A9_HUMAN	solute carrier family 9, subfamily A (NHE9, cation proton antiporter 9), member 9	493					ion transport (GO:0006811)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|late endosome membrane (GO:0031902)|recycling endosome (GO:0055037)	sodium:proton antiporter activity (GO:0015385)			breast(2)|endometrium(5)|kidney(2)|large_intestine(13)|lung(29)|ovary(2)|skin(3)|stomach(1)	57						TCCAGGTCCACGCCAACTCTG	0.438																																						ENST00000316549.6																			0				breast(2)|endometrium(5)|kidney(2)|large_intestine(13)|lung(29)|ovary(2)|skin(3)|stomach(1)	57						c.(1477-1479)Gtg>Atg		solute carrier family 9, subfamily A (NHE9, cation proton antiporter 9), member 9							187	182	183					3																	143100949		2203	4300	6503	SO:0001583	missense	285195				regulation of pH	integral to membrane|late endosome membrane|recycling endosome	sodium:hydrogen antiporter activity	g.chr3:143100949C>T	AY254100	CCDS33872.1	3q23-q24	2014-01-28	2012-03-22		ENSG00000181804	ENSG00000181804		"Solute carriers"	20653	protein-coding gene	gene with protein product		608396	"solute carrier family 9 (sodium/hydrogen exchanger), isoform 9", "solute carrier family 9 (sodium/hydrogen exchanger), member 9"			14569117	Standard	NM_173653		Approved	FLJ35613, NHE9	uc003evn.3	Q8IVB4	OTTHUMG00000159373	ENST00000316549.6:c.1477G>A	3.37:g.143100949C>T	ENSP00000320246:p.Val493Met					SLC9A9-AS2_ENST00000490153.1_RNA	p.V493M	NM_173653.3	NP_775924.1	Q8IVB4	SL9A9_HUMAN			13	1685	-			493					A6NMQ9|Q3LIC2|Q5JPI6|Q5WA58|Q8NAB9	Missense_Mutation	SNP	ENST00000316549.6	37	c.1477G>A	CCDS33872.1	.	.	.	.	.	.	.	.	.	.	C	16.10	3.026124	0.54683	.	.	ENSG00000181804	ENST00000316549	T	0.30714	1.52	5.11	4.24	0.50183	.	0.350509	0.24330	N	0.039471	T	0.33177	0.0854	M	0.80332	2.49	0.46542	D	0.999099	P	0.38420	0.63	B	0.33750	0.169	T	0.29336	-1.0015	10	0.66056	D	0.02	.	9.1529	0.36973	0.0:0.9029:0.0:0.0971	.	493	Q8IVB4	SL9A9_HUMAN	M	493	ENSP00000320246:V493M	ENSP00000320246:V493M	V	-	1	0	SLC9A9	144583639	0.990000	0.36364	0.987000	0.45799	0.986000	0.74619	1.403000	0.34612	1.376000	0.46267	0.655000	0.94253	GTG		0.438	SLC9A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354994.1	NM_173653		6	573	0	0	0	0.248553	0	6	573					T	143100949	C	T	143100949	3	4	38	1	0	0	0	0	1	0	0	0	14721	536	19	1	476	1	SLC9A9	3	143100949	Missense_Mutation	SNP	C	TCGA-CH-5788-01A-11D-1576-08	7230002	143100949	54921481	20	2079											
POLN	353497	broad.mit.edu	37	chr4	2097644	2097644	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	gtctgcgtgtgtcacctgttCcacgggcacatccttcctgc	4	12	10	15	2	2	0	1	0	1	0	5	0	5	0	4	1	2	2	4	1	0	2			TCGA-CH-5788-01A-11D-1576-08	TCGA-CH-5788-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e272bea-9193-4c10-a802-f7e18b2937a3	ebc70303-3561-4cf6-a274-8c83d1d5f9bd	g.chr4:2097644C>G	ENST00000511885.2	-	20	2352	c.1999G>C	c.(1999-2001)Gaa>Caa	p.E667Q	POLN_ENST00000382865.1_Missense_Mutation_p.E667Q			Q7Z5Q5	DPOLN_HUMAN	polymerase (DNA directed) nu	667					double-strand break repair via homologous recombination (GO:0000724)|interstrand cross-link repair (GO:0036297)|translesion synthesis (GO:0019985)	nucleus (GO:0005634)	cyclin binding (GO:0030332)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)			kidney(6)|large_intestine(5)|liver(1)|lung(8)|ovary(2)|skin(4)|urinary_tract(2)	28			OV - Ovarian serous cystadenocarcinoma(23;0.0955)			GTCACCTGTTCCACGGGCACA	0.602								DNA polymerases (catalytic subunits)																														ENST00000511885.2																			0				kidney(6)|large_intestine(5)|liver(1)|lung(8)|ovary(2)|skin(4)|urinary_tract(2)	28						c.(1999-2001)Gaa>Caa	DNA polymerases (catalytic subunits)	polymerase (DNA directed) nu							241	180	201					4																	2097644		2203	4300	6503	SO:0001583	missense	353497				DNA repair|DNA replication	nucleus	DNA binding|DNA-directed DNA polymerase activity	g.chr4:2097644C>G	AF044578	CCDS3360.1	4p16.3	2012-05-18			ENSG00000130997	ENSG00000130997		"DNA polymerases"	18870	protein-coding gene	gene with protein product		610887				12794064	Standard	NM_181808		Approved		uc003ger.2	Q7Z5Q5	OTTHUMG00000090081	ENST00000511885.2:c.1999G>C	4.37:g.2097644C>G	ENSP00000435506:p.Glu667Gln					POLN_ENST00000382865.1_Missense_Mutation_p.E667Q	p.E667Q			Q7Z5Q5	DPOLN_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.0955)		20	2352	-			667					A2A336|B4E158|Q4TTW4|Q6ZNF4	Missense_Mutation	SNP	ENST00000511885.2	37	c.1999G>C	CCDS3360.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.15|13.15	2.150143|2.150143	0.37923|0.37923	.|.	.|.	ENSG00000130997|ENSG00000130997	ENST00000511885;ENST00000382865;ENST00000253313;ENST00000382857|ENST00000511098	T;T|.	0.27720|.	1.65;1.65|.	3.68|3.68	2.83|2.83	0.33086|0.33086	DNA-directed DNA polymerase, family A, palm domain (2);|.	0.421139|.	0.23791|.	N|.	0.044521|.	T|T	0.59595|0.59595	0.2205|0.2205	M|M	0.85777|0.85777	2.775|2.775	0.09310|0.09310	N|N	1|1	D;D;P|.	0.76494|.	0.998;0.999;0.88|.	D;D;P|.	0.70935|.	0.971;0.96;0.688|.	T|T	0.52675|0.52675	-0.8544|-0.8544	10|5	0.87932|.	D|.	0|.	-6.0125|-6.0125	6.7786|6.7786	0.23634|0.23634	0.0:0.873:0.0:0.127|0.0:0.873:0.0:0.127	.|.	198;358;667|.	C9JDP8;E9PE06;Q7Z5Q5|.	.;.;DPOLN_HUMAN|.	Q|C	667;667;358;198|299	ENSP00000435506:E667Q;ENSP00000372316:E667Q|.	ENSP00000253313:E358Q|.	E|W	-|-	1|3	0|0	POLN|POLN	2067442|2067442	0.045000|0.045000	0.20229|0.20229	0.006000|0.006000	0.13384|0.13384	0.006000|0.006000	0.05464|0.05464	1.414000|1.414000	0.34736|0.34736	1.120000|1.120000	0.41904|0.41904	0.563000|0.563000	0.77884|0.77884	GAA|TGG		0.602	POLN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000205684.2	NM_181808		3	119	0	0	0	0.115264	0	3	119					G	2097644	C	G	2097644	3	3	38	1	0	0	0	0	1	0	0	0	12207	864	30	5	731	5	POLN	4	2097644	Missense_Mutation	SNP	C	TCGA-CH-5788-01A-11D-1576-08		2097644	189056632	21	2080											
PPP2R2C	5522	broad.mit.edu	37	chr4	6377648	6377648	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcggtaatcttccataatttGatagttttatctttaaaaac	13	18	4	6	1	2	1	0	1	2	0	4	1	3	1	1	1	1	2	1	1	7	9			TCGA-CH-5788-01A-11D-1576-08	TCGA-CH-5788-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e272bea-9193-4c10-a802-f7e18b2937a3	ebc70303-3561-4cf6-a274-8c83d1d5f9bd	g.chr4:6377648G>C	ENST00000382599.4	-	4	561	c.345C>G	c.(343-345)atC>atG	p.I115M	PPP2R2C_ENST00000335585.5_Missense_Mutation_p.I115M|PPP2R2C_ENST00000314348.8_5'UTR|PPP2R2C_ENST00000515571.1_Missense_Mutation_p.I98M|PPP2R2C_ENST00000507294.1_Missense_Mutation_p.I108M|PPP2R2C_ENST00000506140.1_Missense_Mutation_p.I108M			Q9Y2T4	2ABG_HUMAN	protein phosphatase 2, regulatory subunit B, gamma	115					regulation of catalytic activity (GO:0050790)|signal transduction (GO:0007165)	protein phosphatase type 2A complex (GO:0000159)	protein phosphatase type 2A regulator activity (GO:0008601)	p.I115M(1)		central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	28						TCCATAATTTGATAGTTTTAT	0.413																																						ENST00000335585.5																			1	Substitution - Missense(1)	p.I115M(1)	prostate(1)	central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	28						c.(343-345)atC>atG		protein phosphatase 2, regulatory subunit B, gamma							91	94	93					4																	6377648		2203	4300	6503	SO:0001583	missense	5522				signal transduction	protein phosphatase type 2A complex	protein phosphatase type 2A regulator activity	g.chr4:6377648G>C	AF086924	CCDS3388.1, CCDS56304.1, CCDS56305.1, CCDS3387.1	4p16.1	2013-01-10	2010-04-14		ENSG00000074211	ENSG00000074211	3.1.3.16	"Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits", "WD repeat domain containing"	9306	protein-coding gene	gene with protein product	"PP2A subunit B isoform gamma"	605997	"protein phosphatase 2 (formerly 2A), regulatory subunit B (PR 52), gamma isoform", "protein phosphatase 2 (formerly 2A), regulatory subunit B, gamma isoform"			10574460, 10945473	Standard	NM_020416		Approved	PR52, IMYPNO, MGC33570, PR55G	uc003gja.3	Q9Y2T4	OTTHUMG00000090445	ENST00000382599.4:c.345C>G	4.37:g.6377648G>C	ENSP00000372042:p.Ile115Met					PPP2R2C_ENST00000506140.1_Missense_Mutation_p.I108M|PPP2R2C_ENST00000507294.1_Missense_Mutation_p.I108M|PPP2R2C_ENST00000515571.1_Missense_Mutation_p.I98M|PPP2R2C_ENST00000382599.4_Missense_Mutation_p.I115M|PPP2R2C_ENST00000314348.8_5'UTR	p.I115M	NM_181876.2	NP_870991.1	Q9Y2T4	2ABG_HUMAN			4	368	-			115					A8MSY7|B7Z3Y1|Q7Z4V7|Q8NEC4|Q9H3G7	Missense_Mutation	SNP	ENST00000382599.4	37	c.345C>G		.	.	.	.	.	.	.	.	.	.	G	16.22	3.060283	0.55432	.	.	ENSG00000074211	ENST00000335585;ENST00000506140;ENST00000515571;ENST00000382599;ENST00000507294	T;T;T;T;T	0.39406	1.08;1.08;1.08;1.08;1.08	4.32	1.44	0.22558	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.53465	0.1798	M	0.77486	2.375	0.58432	D	0.999996	D;D;D;D;P	0.57257	0.964;0.963;0.979;0.964;0.931	P;P;P;P;P	0.59546	0.787;0.859;0.787;0.787;0.754	T	0.51293	-0.8724	10	0.87932	D	0	-56.3154	4.5585	0.12149	0.1665:0.0:0.5244:0.309	.	108;211;115;98;115	B7Z3Y1;Q59GC6;Q9Y2T4;Q9Y2T4-3;Q9Y2T4-2	.;.;2ABG_HUMAN;.;.	M	115;108;98;115;108	ENSP00000335083:I115M;ENSP00000423649:I108M;ENSP00000422374:I98M;ENSP00000372042:I115M;ENSP00000425247:I108M	ENSP00000335083:I115M	I	-	3	3	PPP2R2C	6428549	1.000000	0.71417	0.977000	0.42913	0.996000	0.88848	0.531000	0.23052	0.132000	0.18615	0.561000	0.74099	ATC		0.413	PPP2R2C-001	NOVEL	overlapping_uORF|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000206889.2	NM_181876		10	234	0	0	0	0.335167	0	10	234					C	6377648	G	C	6377648	3	2	38	1	0	0	0	0	1	0	0	0	12386	1280	45	5	1022	5	PPP2R2C	4	6377648	Missense_Mutation	SNP	G	TCGA-CH-5788-01A-11D-1576-08	4280004	6377648	184776628	22	2081											
TMEM165	55858	broad.mit.edu	37	chr4	56262481	56262481	+	Frame_Shift_Del	DEL	G	G	-																															agatgaagaccttagccaccGgaacaaagaaccgccggcgc																										TCGA-CH-5788-01A-11D-1576-08	TCGA-CH-5788-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e272bea-9193-4c10-a802-f7e18b2937a3	ebc70303-3561-4cf6-a274-8c83d1d5f9bd	g.chr4:56262481delG	ENST00000381334.5	+	1	358	c.125delG	c.(124-126)cggfs	p.R42fs	TMEM165_ENST00000542052.1_5'UTR|SRD5A3-AS1_ENST00000599135.1_RNA|TMEM165_ENST00000506198.1_Frame_Shift_Del_p.R42fs|SRD5A3-AS1_ENST00000592823.1_RNA|SRD5A3-AS1_ENST00000598819.1_RNA|SRD5A3-AS1_ENST00000601433.1_RNA	NM_018475.4	NP_060945.2	Q9HC07	TM165_HUMAN	transmembrane protein 165	42					cellular calcium ion homeostasis (GO:0006874)|Golgi calcium ion transport (GO:0032472)|protein N-linked glycosylation (GO:0006487)|regulation of lysosomal lumen pH (GO:0035751)	endosome membrane (GO:0010008)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal membrane (GO:0005765)|trans-Golgi network membrane (GO:0032588)				endometrium(1)|kidney(1)|large_intestine(2)	4	Lung NSC(11;0.00545)|Glioma(25;0.08)|all_neural(26;0.101)|all_epithelial(27;0.135)		LUSC - Lung squamous cell carcinoma(4;1.62e-07)|Lung(4;1.34e-06)|Epithelial(7;0.0103)			CTTAGCCACCGGAACAAAGAA	0.741																																						ENST00000381334.5																			0				endometrium(1)|kidney(1)|large_intestine(2)	4						c.(124-126)cgfs		transmembrane protein 165							2	3	3					4																	56262481		1489	3392	4881	SO:0001589	frameshift_variant	55858					integral to membrane		g.chr4:56262481delG	AF183409	CCDS3499.1	4q12	2014-03-13			ENSG00000134851	ENSG00000134851			30760	protein-coding gene	gene with protein product	"TPA regulated locus"	614726				3202867, 22683087, 23575229	Standard	NM_018475		Approved	TMPT27, TPARL, GDT1	uc003hax.3	Q9HC07	OTTHUMG00000128735	ENST00000381334.5:c.125delG	4.37:g.56262481delG	ENSP00000370736:p.Arg42fs					TMEM165_ENST00000542052.1_5'UTR|TMEM165_ENST00000506198.1_Frame_Shift_Del_p.R42fs	p.R42fs	NM_018475.3	NP_060945.2	Q9HC07	TM165_HUMAN	LUSC - Lung squamous cell carcinoma(4;1.62e-07)|Lung(4;1.34e-06)|Epithelial(7;0.0103)		1	358	+	Lung NSC(11;0.00545)|Glioma(25;0.08)|all_neural(26;0.101)|all_epithelial(27;0.135)		42					A8K3P8|B4DHW1|Q9BTN9|Q9NZ34	Frame_Shift_Del	DEL	ENST00000381334.5	37	c.125delG	CCDS3499.1																																																																																				0.741	TMEM165-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250646.4	NM_018475		3	5						3	5	---	---	---	---	-	56262481	G	-	56262481	7	5	38	1	0	1	0	1	0	0	0	0	16077	1116	39	0	127	0	TMEM165	4	56262481	Frame_Shift_Del	DEL	G	TCGA-CH-5788-01A-11D-1576-08	49884833	56262481	134891795	23	2082											
MFSD8	256471	broad.mit.edu	37	chr4	128843022	128843022	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtatggctataccttcccaCtgtattttgggaaattgatt	9	17	8	7	0	0	1	0	1	0	0	1	2	1	2	2	2	1	3	2	2	5	9			TCGA-CH-5788-01A-11D-1576-08	TCGA-CH-5788-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e272bea-9193-4c10-a802-f7e18b2937a3	ebc70303-3561-4cf6-a274-8c83d1d5f9bd	g.chr4:128843022C>G	ENST00000296468.3	-	11	1222	c.1095G>C	c.(1093-1095)caG>caC	p.Q365H	MFSD8_ENST00000515130.1_Intron|MFSD8_ENST00000513559.1_Missense_Mutation_p.Q320H	NM_152778.2	NP_689991.1	Q8NHS3	MFSD8_HUMAN	major facilitator superfamily domain containing 8	365					cell death (GO:0008219)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal membrane (GO:0005765)|nucleus (GO:0005634)		p.Q365H(1)		cervix(2)|endometrium(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(2)|skin(1)	23						TACCTTCCCACTGTATTTTGG	0.373																																						ENST00000296468.3																			1	Substitution - Missense(1)	p.Q365H(1)	prostate(1)	cervix(2)|endometrium(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(2)|skin(1)	23						c.(1093-1095)caG>caC		major facilitator superfamily domain containing 8							67	69	69					4																	128843022		2203	4300	6503	SO:0001583	missense	256471				cell death|transmembrane transport	integral to membrane|lysosomal membrane		g.chr4:128843022C>G	AK074564	CCDS3736.1	4q28.2	2014-09-17			ENSG00000164073	ENSG00000164073			28486	protein-coding gene	gene with protein product		611124	"ceroid-lipofuscinosis, neuronal 7, late infantile, variant"	CLN7		17564970	Standard	NM_152778		Approved	MGC33302	uc003ifp.3	Q8NHS3	OTTHUMG00000133303	ENST00000296468.3:c.1095G>C	4.37:g.128843022C>G	ENSP00000296468:p.Gln365His					MFSD8_ENST00000513559.1_Missense_Mutation_p.Q320H|MFSD8_ENST00000515130.1_Intron	p.Q365H	NM_152778.2	NP_689991.1	Q8NHS3	MFSD8_HUMAN			11	1222	-			365					B2RDM1|B7Z205|Q8N2P3	Missense_Mutation	SNP	ENST00000296468.3	37	c.1095G>C	CCDS3736.1	.	.	.	.	.	.	.	.	.	.	C	15.53	2.860919	0.51482	.	.	ENSG00000164073	ENST00000296468;ENST00000513559	D;D	0.85629	-2.01;-1.91	5.17	2.36	0.29203	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.059551	0.64402	D	0.000002	D	0.89132	0.6628	M	0.68952	2.095	0.80722	D	1	D	0.76494	0.999	D	0.72982	0.979	D	0.86512	0.1810	10	0.37606	T	0.19	-6.1231	9.6577	0.39936	0.0:0.7025:0.0:0.2975	.	365	Q8NHS3	MFSD8_HUMAN	H	365;320	ENSP00000296468:Q365H;ENSP00000425000:Q320H	ENSP00000296468:Q365H	Q	-	3	2	MFSD8	129062472	0.993000	0.37304	1.000000	0.80357	0.985000	0.73830	0.318000	0.19504	0.715000	0.32103	-0.258000	0.10820	CAG		0.373	MFSD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257097.1	NM_152778		30	60	0	0	0	0.740014	0	30	60					G	128843022	C	G	128843022	3	3	38	1	0	0	0	0	1	0	0	0	9538	564	20	5	473	5	MFSD8	4	128843022	Missense_Mutation	SNP	C	TCGA-CH-5788-01A-11D-1576-08	72580541	128843022	62311254	24	2083											
CHD1	1105	broad.mit.edu	37	chr5	98192174	98192174	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctggagccataaggagatctCtgatctagtggtgacctagg	10	10	13	8	0	2	3	0	2	2	1	3	5	2	4	2	4	1	0	2	4	3	3			TCGA-CH-5788-01A-11D-1576-08	TCGA-CH-5788-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e272bea-9193-4c10-a802-f7e18b2937a3	ebc70303-3561-4cf6-a274-8c83d1d5f9bd	g.chr5:98192174C>T	ENST00000284049.3	-	35	5192	c.5043G>A	c.(5041-5043)caG>caA	p.Q1681Q		NM_001270.2	NP_001261.2	O14646	CHD1_HUMAN	chromodomain helicase DNA binding protein 1	1681					chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|methylated histone binding (GO:0035064)	p.Q1681Q(1)		NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	49		all_cancers(142;5.36e-08)|all_epithelial(76;6.97e-11)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|all_lung(232;0.00119)|Ovarian(225;0.024)|Colorectal(57;0.117)		COAD - Colon adenocarcinoma(37;0.0717)	Epirubicin(DB00445)	AAGGAGATCTCTGATCTAGTG	0.443																																						ENST00000284049.3																			1	Substitution - coding silent(1)	p.Q1681Q(1)	prostate(1)	NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	49						c.(5041-5043)caG>caA		chromodomain helicase DNA binding protein 1	Epirubicin(DB00445)						95	88	91					5																	98192174		2203	4299	6502	SO:0001819	synonymous_variant	1105				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|methylated histone residue binding	g.chr5:98192174C>T	AF006513	CCDS34204.1	5q15-q21	2008-07-18			ENSG00000153922	ENSG00000153922			1915	protein-coding gene	gene with protein product		602118				8460153, 9326634	Standard	XM_005271866		Approved		uc003knf.3	O14646	OTTHUMG00000162744	ENST00000284049.3:c.5043G>A	5.37:g.98192174C>T							p.Q1681Q	NM_001270.2	NP_001261.2	O14646	CHD1_HUMAN		COAD - Colon adenocarcinoma(37;0.0717)	35	5192	-		all_cancers(142;5.36e-08)|all_epithelial(76;6.97e-11)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|all_lung(232;0.00119)|Ovarian(225;0.024)|Colorectal(57;0.117)	1681					Q17RZ3	Silent	SNP	ENST00000284049.3	37	c.5043G>A	CCDS34204.1																																																																																				0.443	CHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370295.1	NM_001270		53	21	0	0	0	0.870114	0	53	21					T	98192174	C	T	98192174	2	4	38	1	0	0	0	0	0	0	0	1	3323	912	32	3		3	CHD1	5	98192174	Silent	SNP	C	TCGA-CH-5788-01A-11D-1576-08		98192174	82723086	25	2084											
CHD1	1105	broad.mit.edu	37	chr5	98192340	98192340	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aacgatgatcagaatgagatCtatcttttaaacttccttcc	13	14	5	9	1	3	3	1	2	2	2	5	5	5	3	2	0	2	0	2	0	5	5			TCGA-CH-5788-01A-11D-1576-08	TCGA-CH-5788-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e272bea-9193-4c10-a802-f7e18b2937a3	ebc70303-3561-4cf6-a274-8c83d1d5f9bd	g.chr5:98192340C>G	ENST00000284049.3	-	35	5026	c.4877G>C	c.(4876-4878)aGa>aCa	p.R1626T		NM_001270.2	NP_001261.2	O14646	CHD1_HUMAN	chromodomain helicase DNA binding protein 1	1626					chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|methylated histone binding (GO:0035064)	p.R1626T(1)		NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	49		all_cancers(142;5.36e-08)|all_epithelial(76;6.97e-11)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|all_lung(232;0.00119)|Ovarian(225;0.024)|Colorectal(57;0.117)		COAD - Colon adenocarcinoma(37;0.0717)	Epirubicin(DB00445)	AGAATGAGATCTATCTTTTAA	0.383																																						ENST00000284049.3																			1	Substitution - Missense(1)	p.R1626T(1)	prostate(1)	NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	49						c.(4876-4878)aGa>aCa		chromodomain helicase DNA binding protein 1	Epirubicin(DB00445)						113	108	110					5																	98192340		2203	4300	6503	SO:0001583	missense	1105				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|methylated histone residue binding	g.chr5:98192340C>G	AF006513	CCDS34204.1	5q15-q21	2008-07-18			ENSG00000153922	ENSG00000153922			1915	protein-coding gene	gene with protein product		602118				8460153, 9326634	Standard	XM_005271866		Approved		uc003knf.3	O14646	OTTHUMG00000162744	ENST00000284049.3:c.4877G>C	5.37:g.98192340C>G	ENSP00000284049:p.Arg1626Thr						p.R1626T	NM_001270.2	NP_001261.2	O14646	CHD1_HUMAN		COAD - Colon adenocarcinoma(37;0.0717)	35	5026	-		all_cancers(142;5.36e-08)|all_epithelial(76;6.97e-11)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|all_lung(232;0.00119)|Ovarian(225;0.024)|Colorectal(57;0.117)	1626					Q17RZ3	Missense_Mutation	SNP	ENST00000284049.3	37	c.4877G>C	CCDS34204.1	.	.	.	.	.	.	.	.	.	.	C	13.53	2.265142	0.40095	.	.	ENSG00000153922	ENST00000422663;ENST00000284049	D	0.91180	-2.8	5.55	5.55	0.83447	.	0.000000	0.33875	U	0.004469	D	0.89083	0.6614	L	0.52573	1.65	0.53688	D	0.999979	B	0.16603	0.018	B	0.14578	0.011	D	0.84767	0.0765	10	0.52906	T	0.07	.	19.5027	0.95103	0.0:1.0:0.0:0.0	.	1626	O14646	CHD1_HUMAN	T	216;1626	ENSP00000284049:R1626T	ENSP00000284049:R1626T	R	-	2	0	CHD1	98220240	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.038000	0.64177	2.601000	0.87937	0.655000	0.94253	AGA		0.383	CHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370295.1	NM_001270		71	18	0	0	0	0.870114	0	71	18					G	98192340	C	G	98192340	3	3	38	1	0	0	0	0	1	0	0	0	3323	913	32	5	259	5	CHD1	5	98192340	Missense_Mutation	SNP	C	TCGA-CH-5788-01A-11D-1576-08	166	98192340	82722920	26	2085											
PCDHB7	56129	broad.mit.edu	37	chr5	140553130	140553130	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gttctagacgtaaatgacaaCgcccctgattttgtgcggtc	9	12	10	10	3	1	3	0	2	1	1	2	3	1	3	2	1	2	2	2	1	4	5			TCGA-CH-5788-01A-11D-1576-08	TCGA-CH-5788-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e272bea-9193-4c10-a802-f7e18b2937a3	ebc70303-3561-4cf6-a274-8c83d1d5f9bd	g.chr5:140553130C>T	ENST00000231137.3	+	1	888	c.714C>T	c.(712-714)aaC>aaT	p.N238N		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN	protocadherin beta 7	238	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.N238N(3)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TAAATGACAACGCCCCTGATT	0.542																																						ENST00000231137.3																			3	Substitution - coding silent(3)	p.N238N(3)	prostate(2)|endometrium(1)	NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						c.(712-714)aaC>aaT									60	63	62					5																	140553130		2203	4300	6503	SO:0001819	synonymous_variant	0				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140553130C>T	AF152500	CCDS4249.1	5q31	2010-01-26			ENSG00000113212	ENSG00000113212		"Cadherins / Protocadherins : Clustered"	8692	other	protocadherin		606333				10380929	Standard	NM_018940		Approved	PCDH-BETA7	uc003lit.3	Q9Y5E2	OTTHUMG00000129608	ENST00000231137.3:c.714C>T	5.37:g.140553130C>T							p.N238N	NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	888	+			238			Cadherin 2.		A1L3Y8	Silent	SNP	ENST00000231137.3	37	c.714C>T	CCDS4249.1																																																																																				0.542	PCDHB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251803.2	NM_018940		8	131	0	0	0	0.307466	0	8	131					T	140553130	C	T	140553130	2	4	38	1	0	0	0	0	0	0	0	1	11547	535	19	1		1	PCDHB7	5	140553130	Silent	SNP	C	TCGA-CH-5788-01A-11D-1576-08	42360790	140553130	40362130	27	2086											
CCNG1	900	broad.mit.edu	37	chr5	162868107	162868107	+	Nonsense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcccaagcaccttgggtgTgttggactgagctgctttta	7	12	12	10	0	0	1	0	1	0	0	0	2	0	2	2	2	4	4	2	2	2	4			TCGA-CH-5788-01A-11D-1576-08	TCGA-CH-5788-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e272bea-9193-4c10-a802-f7e18b2937a3	ebc70303-3561-4cf6-a274-8c83d1d5f9bd	g.chr5:162868107T>A	ENST00000340828.2	+	3	512	c.288T>A	c.(286-288)tgT>tgA	p.C96*	CCNG1_ENST00000504553.1_5'Flank|AC112205.1_ENST00000599797.1_Intron|CCNG1_ENST00000510664.1_Intron|CCNG1_ENST00000512163.1_5'UTR|CCNG1_ENST00000511683.2_5'UTR|CCNG1_ENST00000393929.1_Nonsense_Mutation_p.C96*	NM_004060.3	NP_004051.1	P51959	CCNG1_HUMAN	cyclin G1	96					brain development (GO:0007420)|cell growth (GO:0016049)|mitotic G2 DNA damage checkpoint (GO:0007095)|mitotic nuclear division (GO:0007067)|negative regulation of apoptotic process (GO:0043066)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|response to organonitrogen compound (GO:0010243)|syncytium formation (GO:0006949)	dendrite (GO:0030425)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)		p.C96*(1)		autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|prostate(2)	12	Renal(175;0.000281)	Medulloblastoma(196;0.00853)|all_neural(177;0.0408)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0597)|OV - Ovarian serous cystadenocarcinoma(192;0.107)|Epithelial(171;0.164)		ACCTTGGGTGTGTTGGACTGA	0.368																																						ENST00000340828.2																			1	Substitution - Nonsense(1)	p.C96*(1)	prostate(1)	autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|prostate(2)	12						c.(286-288)tgT>tgA		cyclin G1							92	90	91					5																	162868107		2203	4300	6503	SO:0001587	stop_gained	900				cell division|mitosis|regulation of cyclin-dependent protein kinase activity	nucleus		g.chr5:162868107T>A	D78341	CCDS4360.1	5q32-q34	2010-11-15			ENSG00000113328	ENSG00000113328			1592	protein-coding gene	gene with protein product		601578		CCNG		8954786, 8806701	Standard	NM_004060		Approved		uc003lzb.3	P51959	OTTHUMG00000130380	ENST00000340828.2:c.288T>A	5.37:g.162868107T>A	ENSP00000344635:p.Cys96*					CCNG1_ENST00000511683.2_5'UTR|CCNG1_ENST00000512163.1_5'UTR|CCNG1_ENST00000393929.1_Nonsense_Mutation_p.C96*|CCNG1_ENST00000510664.1_Intron|AC112205.1_ENST00000599797.1_Intron	p.C96*	NM_004060.3	NP_004051.1	P51959	CCNG1_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0597)|OV - Ovarian serous cystadenocarcinoma(192;0.107)|Epithelial(171;0.164)	3	512	+	Renal(175;0.000281)	Medulloblastoma(196;0.00853)|all_neural(177;0.0408)	96					B2R7B2|B4DLW7|D3DQK7|Q15757|Q96L32	Nonsense_Mutation	SNP	ENST00000340828.2	37	c.288T>A	CCDS4360.1	.	.	.	.	.	.	.	.	.	.	T	37	6.349866	0.97494	.	.	ENSG00000113328	ENST00000393929;ENST00000340828;ENST00000510097;ENST00000511490	.	.	.	5.23	5.23	0.72850	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-1.4337	11.1145	0.48252	0.0:0.0745:0.0:0.9255	.	.	.	.	X	96	.	ENSP00000344635:C96X	C	+	3	2	CCNG1	162800685	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.864000	0.56024	1.979000	0.57680	0.533000	0.62120	TGT		0.368	CCNG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252750.3	NM_004060		60	82	0	0	0	0.870114	0	60	82					A	162868107	T	A	162868107	4	1	38	1	0	0	0	0	0	1	0	0	2923	1702	59	5	294	5	CCNG1	5	162868107	Nonsense_Mutation	SNP	T	TCGA-CH-5788-01A-11D-1576-08	22314977	162868107	18047153	28	2087											
CTGF	1490	broad.mit.edu	37	chr6	132271204	132271204	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggtggagatgcccatcccaCaggtcttggaacaggcgctc	8	7	14	12	1	1	1	0	0	1	1	3	3	2	2	2	5	2	1	2	5	1	1			TCGA-CH-5788-01A-11D-1576-08	TCGA-CH-5788-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e272bea-9193-4c10-a802-f7e18b2937a3	ebc70303-3561-4cf6-a274-8c83d1d5f9bd	g.chr6:132271204C>A	ENST00000367976.3	-	4	838	c.638G>T	c.(637-639)tGt>tTt	p.C213F	RP11-69I8.3_ENST00000435287.1_RNA	NM_001901.2	NP_001892	P29279	CTGF_HUMAN	connective tissue growth factor	213	TSP type-1. {ECO:0000255|PROSITE- ProRule:PRU00210}.				angiogenesis (GO:0001525)|cartilage condensation (GO:0001502)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cellular lipid metabolic process (GO:0044255)|chondrocyte proliferation (GO:0035988)|cytosolic calcium ion transport (GO:0060401)|DNA replication (GO:0006260)|epidermis development (GO:0008544)|extracellular matrix constituent secretion (GO:0070278)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|integrin-mediated signaling pathway (GO:0007229)|intracellular signal transduction (GO:0035556)|lung development (GO:0030324)|negative regulation of cell death (GO:0060548)|negative regulation of gene expression (GO:0010629)|organ senescence (GO:0010260)|ossification (GO:0001503)|positive regulation of cardiac muscle contraction (GO:0060452)|positive regulation of cell activation (GO:0050867)|positive regulation of cell death (GO:0010942)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell proliferation (GO:0008284)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of G0 to G1 transition (GO:0070318)|positive regulation of gene expression (GO:0010628)|positive regulation of JNK cascade (GO:0046330)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of stress fiber assembly (GO:0051496)|reactive oxygen species metabolic process (GO:0072593)|regulation of cell growth (GO:0001558)|regulation of chondrocyte differentiation (GO:0032330)|response to amino acid (GO:0043200)|response to anoxia (GO:0034059)|response to estradiol (GO:0032355)|response to fatty acid (GO:0070542)|response to glucose (GO:0009749)|response to mineralocorticoid (GO:0051385)|response to peptide hormone (GO:0043434)|response to wounding (GO:0009611)|small molecule metabolic process (GO:0044281)|tissue homeostasis (GO:0001894)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell cortex (GO:0005938)|cis-Golgi network (GO:0005801)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|insulin-like growth factor binding (GO:0005520)	p.C213F(1)		breast(1)|endometrium(6)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)	13	Breast(56;0.0602)			GBM - Glioblastoma multiforme(226;0.015)|OV - Ovarian serous cystadenocarcinoma(155;0.0169)		GCCCATCCCACAGGTCTTGGA	0.587											OREG0017666	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									Esophageal Squamous(127;510 1660 12817 24400 38449)	ENST00000367976.3																			1	Substitution - Missense(1)	p.C213F(1)	prostate(1)	breast(1)|endometrium(6)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)	13						c.(637-639)tGt>tTt		connective tissue growth factor							76	69	71					6																	132271204		2203	4300	6503	SO:0001583	missense	1490				cellular lipid metabolic process|DNA replication|epidermis development|regulation of cell growth|response to wounding	plasma membrane|proteinaceous extracellular matrix	heparin binding|insulin-like growth factor binding	g.chr6:132271204C>A	X78947	CCDS5151.1	6q23.2	2008-02-05			ENSG00000118523	ENSG00000118523			2500	protein-coding gene	gene with protein product		121009				1654338	Standard	NM_001901		Approved	IGFBP8, CCN2	uc003qcz.3	P29279	OTTHUMG00000015573	ENST00000367976.3:c.638G>T	6.37:g.132271204C>A	ENSP00000356954:p.Cys213Phe		OREG0017666	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1594		p.C213F	NM_001901.2	NP_001892.1	P29279	CTGF_HUMAN		GBM - Glioblastoma multiforme(226;0.015)|OV - Ovarian serous cystadenocarcinoma(155;0.0169)	4	838	-	Breast(56;0.0602)		213			TSP type-1.		E1P578|Q6LCY0|Q96A79|Q96QX2|Q9UDL6	Missense_Mutation	SNP	ENST00000367976.3	37	c.638G>T	CCDS5151.1	.	.	.	.	.	.	.	.	.	.	C	22.2	4.258222	0.80246	.	.	ENSG00000118523	ENST00000367976	D	0.96491	-4.03	5.36	5.36	0.76844	.	0.000000	0.85682	D	0.000000	D	0.99083	0.9685	H	0.98370	4.215	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99211	1.0876	10	0.87932	D	0	.	19.4542	0.94880	0.0:1.0:0.0:0.0	.	213	P29279	CTGF_HUMAN	F	213	ENSP00000356954:C213F	ENSP00000356954:C213F	C	-	2	0	CTGF	132312897	1.000000	0.71417	0.998000	0.56505	0.993000	0.82548	7.818000	0.86416	2.671000	0.90904	0.555000	0.69702	TGT		0.587	CTGF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042239.2	NM_001901		4	77	1	0	0.00909568	0.150653	0.00956213	4	77					A	132271204	C	A	132271204	3	1	38	1	0	0	0	0	1	0	0	0	4008	478	17	5	419	5	CTGF	6	132271204	Missense_Mutation	SNP	C	TCGA-CH-5788-01A-11D-1576-08		132271204	38843863	29	2088											
ABCB5	340273	broad.mit.edu	37	chr7	20778650	20778650	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agctatggccatcggagaaaCgctcgttttggctcctgaat	9	11	11	10	3	0	2	0	1	0	1	3	3	1	2	2	3	2	4	2	3	3	3			TCGA-CH-5788-01A-11D-1576-08	TCGA-CH-5788-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e272bea-9193-4c10-a802-f7e18b2937a3	ebc70303-3561-4cf6-a274-8c83d1d5f9bd	g.chr7:20778650C>T	ENST00000404938.2	+	24	3564	c.2912C>T	c.(2911-2913)aCg>aTg	p.T971M	ABCB5_ENST00000258738.6_Missense_Mutation_p.T526M	NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 5	971	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.				antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-dependent (GO:0002485)|antigen processing and presentation of endogenous peptide antigen via MHC class Ib via ER pathway, TAP-dependent (GO:0002489)|antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent (GO:0002481)|cell differentiation (GO:0030154)|compound eye corneal lens development (GO:0048058)|positive regulation of antigen processing and presentation of peptide antigen via MHC class I (GO:0002591)|regulation of membrane potential (GO:0042391)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|efflux transmembrane transporter activity (GO:0015562)	p.T526M(1)|p.T971M(1)		breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						ATCGGAGAAACGCTCGTTTTG	0.418																																						ENST00000404938.2																			2	Substitution - Missense(2)	p.T526M(1)|p.T971M(1)	prostate(2)	breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						c.(2911-2913)aCg>aTg		ATP-binding cassette, sub-family B (MDR/TAP), member 5							66	63	64					7																	20778650		2203	4300	6503	SO:0001583	missense	340273				regulation of membrane potential	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus	ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity	g.chr7:20778650C>T	U66692	CCDS5371.1, CCDS55090.1, CCDS55091.1, CCDS55092.1	7p14	2012-03-14			ENSG00000004846	ENSG00000004846		"ATP binding cassette transporters / subfamily B"	46	protein-coding gene	gene with protein product	"P-glycoprotein ABCB5", "ATP-binding cassette protein"	611785				8894702, 12960149	Standard	NM_001163942		Approved	EST422562, ABCB5beta, ABCB5alpha	uc010kuh.3	Q2M3G0	OTTHUMG00000094789	ENST00000404938.2:c.2912C>T	7.37:g.20778650C>T	ENSP00000384881:p.Thr971Met					ABCB5_ENST00000258738.6_Missense_Mutation_p.T526M	p.T971M	NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN			24	3564	+			526					A4D131|A7BKA4|B5MD19|B7WPL1|F8QQP8|F8QQP9|J3KQ04|Q2M3I5|Q5I5Q7|Q5I5Q8|Q6KG50|Q6XFQ5|Q8IXA1	Missense_Mutation	SNP	ENST00000404938.2	37	c.2912C>T	CCDS55090.1	.	.	.	.	.	.	.	.	.	.	C	17.58	3.425294	0.62733	.	.	ENSG00000004846	ENST00000404938;ENST00000258738	T;T	0.79940	-1.32;-1.32	4.99	4.99	0.66335	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);	0.324780	0.25978	N	0.027094	D	0.86012	0.5831	M	0.67953	2.075	0.48901	D	0.999725	D;D	0.63880	0.993;0.986	P;P	0.56514	0.8;0.765	D	0.86677	0.1914	10	0.56958	D	0.05	.	16.1633	0.81734	0.0:1.0:0.0:0.0	.	971;526	A7BKA4;Q2M3G0	.;ABCB5_HUMAN	M	971;526	ENSP00000384881:T971M;ENSP00000258738:T526M	ENSP00000258738:T526M	T	+	2	0	ABCB5	20745175	0.996000	0.38824	1.000000	0.80357	0.276000	0.26787	5.624000	0.67764	2.774000	0.95407	0.484000	0.47621	ACG		0.418	ABCB5-004	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000326736.2	NM_178559		27	111	0	0	0	0.740014	0	27	111					T	20778650	C	T	20778650	3	4	38	1	0	0	0	0	1	0	0	0	44	536	19	1	3043	1	ABCB5	7	20778650	Missense_Mutation	SNP	C	TCGA-CH-5788-01A-11D-1576-08		20778650	138360013	30	2089											
CPVL	54504	broad.mit.edu	37	chr7	29070308	29070308	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gggatcctttccagtccatgCccatcaaggagcgctctgtc	7	10	10	14	1	2	0	1	0	1	0	6	2	5	2	4	2	2	1	4	2	1	1			TCGA-CH-5788-01A-11D-1576-08	TCGA-CH-5788-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e272bea-9193-4c10-a802-f7e18b2937a3	ebc70303-3561-4cf6-a274-8c83d1d5f9bd	g.chr7:29070308C>T	ENST00000409850.1	-	16	1851	c.1205G>A	c.(1204-1206)gGc>gAc	p.G402D	CPVL_ENST00000265394.5_Missense_Mutation_p.G402D|CPVL_ENST00000396276.3_Missense_Mutation_p.G402D			Q9H3G5	CPVL_HUMAN	carboxypeptidase, vitellogenic-like	402						extracellular vesicular exosome (GO:0070062)	serine-type carboxypeptidase activity (GO:0004185)	p.G402D(1)		NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(1)	28						CCAGTCCATGCCCATCAAGGA	0.473																																						ENST00000409850.1																			1	Substitution - Missense(1)	p.G402D(1)	large_intestine(1)	NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(1)	28						c.(1204-1206)gGc>gAc		carboxypeptidase, vitellogenic-like							138	135	136					7																	29070308		2203	4300	6503	SO:0001583	missense	54504				proteolysis		protein binding|serine-type carboxypeptidase activity	g.chr7:29070308C>T	AF106704	CCDS5419.1	7p15.1	2012-02-10			ENSG00000106066	ENSG00000106066			14399	protein-coding gene	gene with protein product	"carboxypeptidase WUG", "vitellogenic carboxypeptidase-like protein", "CP-Mac carboxypeptidase"	609780				11401439	Standard	XM_005249786		Approved		uc003szw.3	Q9H3G5	OTTHUMG00000023669	ENST00000409850.1:c.1205G>A	7.37:g.29070308C>T	ENSP00000387164:p.Gly402Asp					CPVL_ENST00000265394.5_Missense_Mutation_p.G402D|CPVL_ENST00000396276.3_Missense_Mutation_p.G402D	p.G402D			Q9H3G5	CPVL_HUMAN			16	1851	-			402					A4D1A4|Q6UX20|Q8NBL7|Q96AR7|Q9HB41	Missense_Mutation	SNP	ENST00000409850.1	37	c.1205G>A	CCDS5419.1	.	.	.	.	.	.	.	.	.	.	C	6.225	0.409683	0.11812	.	.	ENSG00000106066	ENST00000265394;ENST00000396276;ENST00000455893;ENST00000409850	D;D;D;D	0.85339	-1.97;-1.97;-1.97;-1.97	5.71	3.89	0.44902	.	0.441828	0.26341	N	0.024935	T	0.70971	0.3285	N	0.12569	0.235	0.26936	N	0.966341	B	0.33000	0.393	B	0.35971	0.215	T	0.59820	-0.7382	10	0.13853	T	0.58	1.8027	10.8978	0.47034	0.074:0.1348:0.7912:0.0	.	402	Q9H3G5	CPVL_HUMAN	D	402;402;67;402	ENSP00000265394:G402D;ENSP00000379572:G402D;ENSP00000403580:G67D;ENSP00000387164:G402D	ENSP00000265394:G402D	G	-	2	0	CPVL	29036833	1.000000	0.71417	0.990000	0.47175	0.079000	0.17450	4.614000	0.61183	1.404000	0.46819	-0.353000	0.07706	GGC		0.473	CPVL-009	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328305.1	NM_019029		7	647	0	0	0	0.248553	0	7	647					T	29070308	C	T	29070308	3	4	38	1	0	0	0	0	1	0	0	0	3835	739	26	3	233	3	CPVL	7	29070308	Missense_Mutation	SNP	C	TCGA-CH-5788-01A-11D-1576-08	8291658	29070308	130068355	31	2090											
CDK13	8621	broad.mit.edu	37	chr7	40039015	40039015	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aagatattgactggggaaaaCgctgcgtggataaatttgat	14	11	12	4	2	0	3	0	2	0	1	0	5	0	5	0	3	2	1	0	3	6	4			TCGA-CH-5788-01A-11D-1576-08	TCGA-CH-5788-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e272bea-9193-4c10-a802-f7e18b2937a3	ebc70303-3561-4cf6-a274-8c83d1d5f9bd	g.chr7:40039015C>G	ENST00000181839.4	+	4	2703	c.2098C>G	c.(2098-2100)Cgc>Ggc	p.R700G	CDK13_ENST00000340829.5_Missense_Mutation_p.R700G|CDK13_ENST00000484589.1_3'UTR	NM_003718.4|NM_031267.3	NP_003709.3|NP_112557.2	Q14004	CDK13_HUMAN	cyclin-dependent kinase 13	700			R -> L (in dbSNP:rs1057000). {ECO:0000269|PubMed:11162436, ECO:0000269|PubMed:1731328}.		alternative mRNA splicing, via spliceosome (GO:0000380)|hemopoiesis (GO:0030097)|multicellular organismal development (GO:0007275)|phosphorylation of RNA polymerase II C-terminal domain (GO:0070816)|positive regulation of cell proliferation (GO:0008284)|regulation of mitosis (GO:0007088)|viral process (GO:0016032)	cyclin K-CDK13 complex (GO:0002945)|extracellular space (GO:0005615)|nuclear cyclin-dependent protein kinase holoenzyme complex (GO:0019908)|nuclear speck (GO:0016607)	ATP binding (GO:0005524)|cyclin binding (GO:0030332)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)	p.R700G(1)|p.L700V(1)		cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(2)|prostate(2)|skin(5)|stomach(2)|urinary_tract(1)	49						CTGGGGAAAACGCTGCGTGGA	0.358																																						ENST00000181839.4																			2	Substitution - Missense(2)	p.R700G(1)|p.L700V(1)	prostate(2)	cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(2)|prostate(2)|skin(5)|stomach(2)|urinary_tract(1)	49						c.(2098-2100)Cgc>Ggc		cyclin-dependent kinase 13							105	110	108					7																	40039015		2203	4300	6503	SO:0001583	missense	8621				alternative nuclear mRNA splicing, via spliceosome|hemopoiesis|interspecies interaction between organisms|phosphorylation of RNA polymerase II C-terminal domain|positive regulation of cell proliferation|regulation of mitosis	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity	g.chr7:40039015C>G	M80629	CCDS5461.1, CCDS5462.1	7p14.1	2011-11-08	2009-12-16	2009-12-16	ENSG00000065883	ENSG00000065883		"Cyclin-dependent kinases"	1733	protein-coding gene	gene with protein product	"cholinesterase-related cell division controller"	603309	"cell division cycle 2-like 5 (cholinesterase-related cell division controller)"	CDC2L5		1731328, 19884882	Standard	NM_003718		Approved	CHED, CDC2L, KIAA1791	uc003thh.4	Q14004	OTTHUMG00000023726	ENST00000181839.4:c.2098C>G	7.37:g.40039015C>G	ENSP00000181839:p.Arg700Gly					CDK13_ENST00000484589.1_3'UTR|CDK13_ENST00000340829.5_Missense_Mutation_p.R700G	p.R700G	NM_003718.4|NM_031267.3	NP_003709.3|NP_112557.2	Q14004	CDK13_HUMAN			4	2703	+			700		R -> L (in dbSNP:rs1057000).			Q53G78|Q6DKQ9|Q75MH4|Q75MH5|Q96JN4|Q9H4A0|Q9H4A1|Q9UDR4	Missense_Mutation	SNP	ENST00000181839.4	37	c.2098C>G	CCDS5461.1	.	.	.	.	.	.	.	.	.	.	C	24.7	4.563962	0.86335	.	.	ENSG00000065883	ENST00000181839;ENST00000340829	T;T	0.43294	0.95;0.95	5.43	5.43	0.79202	Protein kinase-like domain (1);	.	.	.	.	T	0.64702	0.2622	M	0.67397	2.05	0.80722	D	1	P;D;D	0.89917	0.956;1.0;0.996	B;D;D	0.87578	0.357;0.998;0.934	T	0.62849	-0.6767	8	.	.	.	-6.8082	19.2537	0.93935	0.0:1.0:0.0:0.0	.	86;700;700	Q9BVE2;Q14004-2;Q14004	.;.;CDK13_HUMAN	G	700	ENSP00000181839:R700G;ENSP00000340557:R700G	.	R	+	1	0	CDK13	40005540	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.779000	0.62375	2.552000	0.86080	0.643000	0.83706	CGC		0.358	CDK13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250726.2	NM_003718		68	174	0	0	0	0.870114	0	68	174					G	40039015	C	G	40039015	3	3	38	1	0	0	0	0	1	0	0	0	3129	536	19	5	2112	5	CDK13	7	40039015	Missense_Mutation	SNP	C	TCGA-CH-5788-01A-11D-1576-08	10968707	40039015	119099648	32	2091											
ZNF713	349075	broad.mit.edu	37	chr7	56007656	56007656	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaattatgtgaatataaatGtgagcaaactgttcgccaca	16	11	8	6	1	0	2	0	2	0	0	1	3	0	2	1	0	2	2	1	0	7	4			TCGA-CH-5788-01A-11D-1576-08	TCGA-CH-5788-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e272bea-9193-4c10-a802-f7e18b2937a3	ebc70303-3561-4cf6-a274-8c83d1d5f9bd	g.chr7:56007656G>T	ENST00000429591.2	+	4	1288	c.1250G>T	c.(1249-1251)tGt>tTt	p.C417F	MRPS17_ENST00000426595.1_Intron	NM_182633.1	NP_872439.1	Q8N859	ZN713_HUMAN	zinc finger protein 713	417					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.C417F(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	25	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			GAATATAAATGTGAGCAAACT	0.388																																						ENST00000429591.2																			1	Substitution - Missense(1)	p.C417F(1)	prostate(1)	breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	25						c.(1249-1251)tGt>tTt		zinc finger protein 713							48	49	49					7																	56007656		2203	4300	6503	SO:0001583	missense	349075				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:56007656G>T	AK097282	CCDS34639.1	7p11.2	2013-01-08			ENSG00000178665	ENSG00000178665		"Zinc fingers, C2H2-type", "-"	22043	protein-coding gene	gene with protein product							Standard	NM_182633		Approved	FLJ39963	uc003trc.1	Q8N859	OTTHUMG00000156175	ENST00000429591.2:c.1250G>T	7.37:g.56007656G>T	ENSP00000416662:p.Cys417Phe					MRPS17_ENST00000426595.1_Intron	p.C417F	NM_182633.1	NP_872439.1	Q8N859	ZN713_HUMAN	Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)		4	1288	+	Breast(14;0.214)		417						Missense_Mutation	SNP	ENST00000429591.2	37	c.1250G>T	CCDS34639.1	.	.	.	.	.	.	.	.	.	.	G	12.25	1.880599	0.33255	.	.	ENSG00000178665	ENST00000429591	T	0.08370	3.1	3.54	2.66	0.31614	.	0.169954	0.28718	N	0.014378	T	0.16300	0.0392	M	0.63843	1.955	0.39006	D	0.959457	D	0.63880	0.993	P	0.53912	0.737	T	0.02444	-1.1158	10	0.87932	D	0	.	9.2391	0.37484	0.1104:0.0:0.8896:0.0	.	417	Q8N859	ZN713_HUMAN	F	417	ENSP00000416662:C417F	ENSP00000416662:C417F	C	+	2	0	ZNF713	55975150	1.000000	0.71417	0.990000	0.47175	0.242000	0.25591	3.769000	0.55303	1.078000	0.41014	0.467000	0.42956	TGT		0.388	ZNF713-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343297.1	NM_182633		105	86	1	0	1.09637e-55	0.870114	1.34182e-55	105	86					T	56007656	G	T	56007656	3	4	38	1	0	0	0	0	1	0	0	0	18114	1377	48	5	1264	5	ZNF713	7	56007656	Missense_Mutation	SNP	G	TCGA-CH-5788-01A-11D-1576-08	15968641	56007656	103131007	33	2092											
ZKSCAN1	7586	broad.mit.edu	37	chr7	99631796	99631796	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctcccttgatgcatttggCgcgttcctgaaaagttgtgt	6	14	11	10	2	0	2	0	2	0	0	2	2	2	2	3	1	1	3	3	1	2	4	rs147984747	byFrequency	TCGA-CH-5788-01A-11D-1576-08	TCGA-CH-5788-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e272bea-9193-4c10-a802-f7e18b2937a3	ebc70303-3561-4cf6-a274-8c83d1d5f9bd	g.chr7:99631796C>T	ENST00000324306.6	+	6	1902	c.1668C>T	c.(1666-1668)ggC>ggT	p.G556G	ZKSCAN1_ENST00000535170.1_Silent_p.G343G|ZKSCAN1_ENST00000426572.1_Silent_p.G520G	NM_003439.1	NP_003430.1	P17029	ZKSC1_HUMAN	zinc finger with KRAB and SCAN domains 1	556					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(5)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	Lung NSC(181;0.0211)|all_lung(186;0.0323)|Esophageal squamous(72;0.0439)		STAD - Stomach adenocarcinoma(171;0.129)			ATGCATTTGGCGCGTTCCTGA	0.498																																						ENST00000324306.6																			0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(5)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						c.(1666-1668)ggC>ggT		zinc finger with KRAB and SCAN domains 1		C		2,4404	4.2+/-10.8	0,2,2201	97	91	93		1668	-7.7	0.9	7	dbSNP_134	93	0,8600		0,0,4300	no	coding-synonymous	ZKSCAN1	NM_003439.1		0,2,6501	TT,TC,CC		0.0,0.0454,0.0154		556/564	99631796	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	7586				viral reproduction	mitochondrion|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr7:99631796C>T	X52349	CCDS34698.1, CCDS69349.1, CCDS75640.1	7q22	2013-01-09	2004-11-16	2004-11-17	ENSG00000106261	ENSG00000106261		"Zinc fingers, C2H2-type", "-", "-", "-"	13101	protein-coding gene	gene with protein product		601260	"zinc finger protein 36 (KOX 18)"	ZNF139, ZNF36			Standard	NM_001287055		Approved	KOX18, PHZ-37, ZSCAN33	uc003usk.1	P17029	OTTHUMG00000156534	ENST00000324306.6:c.1668C>T	7.37:g.99631796C>T						ZKSCAN1_ENST00000426572.1_Silent_p.G520G|ZKSCAN1_ENST00000535170.1_Silent_p.G343G	p.G556G	NM_003439.1	NP_003430.1	P17029	ZKSC1_HUMAN	STAD - Stomach adenocarcinoma(171;0.129)		6	1902	+	Lung NSC(181;0.0211)|all_lung(186;0.0323)|Esophageal squamous(72;0.0439)		556					A4D294|P52745|Q2M1U1|Q8TBW5|Q8TEK7	Silent	SNP	ENST00000324306.6	37	c.1668C>T	CCDS34698.1																																																																																				0.498	ZKSCAN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344550.2	NM_003439		5	349	0	0	0	0.217242	0	5	349					T	99631796	C	T	99631796	2	4	38	1	0	0	0	0	0	0	0	1	17683	755	27	1		1	ZKSCAN1	7	99631796	Silent	SNP	C	TCGA-CH-5788-01A-11D-1576-08	43624140	99631796	59506867	34	2093											
KCND2	3751	broad.mit.edu	37	chr7	120385960	120385960	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaccagcacctgctgttcaCgacgacacaaaaaaactttt	14	9	5	13	2	2	0	2	0	0	0	2	2	2	0	2	0	3	3	2	0	3	3			TCGA-CH-5788-01A-11D-1576-08	TCGA-CH-5788-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e272bea-9193-4c10-a802-f7e18b2937a3	ebc70303-3561-4cf6-a274-8c83d1d5f9bd	g.chr7:120385960C>T	ENST00000331113.4	+	5	2559	c.1594C>T	c.(1594-1596)Cga>Tga	p.R532*	RP4-797C5.2_ENST00000450480.1_RNA	NM_012281.2	NP_036413.1	Q9NZV8	KCND2_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 2	532					action potential (GO:0001508)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	dendritic spine (GO:0043197)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	A-type (transient outward) potassium channel activity (GO:0005250)|metal ion binding (GO:0046872)|voltage-gated potassium channel activity (GO:0005249)			NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(35)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	75	all_neural(327;0.117)				Amitriptyline(DB00321)|Dalfampridine(DB06637)|Disopyramide(DB00280)|Imipramine(DB00458)	CTGCTGTTCACGACGACACAA	0.443																																						ENST00000331113.4																			0				NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(35)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	75						c.(1594-1596)Cga>Tga		potassium voltage-gated channel, Shal-related subfamily, member 2							151	125	134					7																	120385960		2203	4300	6503	SO:0001587	stop_gained	3751				regulation of action potential|synaptic transmission	cell surface|dendritic spine	metal ion binding	g.chr7:120385960C>T	AJ010969	CCDS5776.1	7q31	2012-07-05			ENSG00000184408	ENSG00000184408		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6238	protein-coding gene	gene with protein product		605410				10551270, 16382104	Standard	NM_012281		Approved	Kv4.2, RK5, KIAA1044	uc003vjj.1	Q9NZV8	OTTHUMG00000156989	ENST00000331113.4:c.1594C>T	7.37:g.120385960C>T	ENSP00000333496:p.Arg532*						p.R532*	NM_012281.2	NP_036413.1	Q9NZV8	KCND2_HUMAN			5	2559	+	all_neural(327;0.117)		532					O95012|O95021|Q2TBD3|Q9UBY7|Q9UN98|Q9UNH9	Nonsense_Mutation	SNP	ENST00000331113.4	37	c.1594C>T	CCDS5776.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.361287	0.82353	.	.	ENSG00000184408	ENST00000331113	.	.	.	6.06	1.55	0.23275	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.8432	0.85973	0.4646:0.5354:0.0:0.0	.	.	.	.	X	532	.	.	R	+	1	2	KCND2	120173196	1.000000	0.71417	0.997000	0.53966	0.993000	0.82548	1.985000	0.40668	0.374000	0.24650	0.655000	0.94253	CGA		0.443	KCND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346996.1	NM_012281		4	141	0	0	0	0.184627	0	4	141					T	120385960	C	T	120385960	4	4	38	1	0	0	0	0	0	1	0	0	8019	528	19	1	1612	1	KCND2	7	120385960	Nonsense_Mutation	SNP	C	TCGA-CH-5788-01A-11D-1576-08	20754164	120385960	38752703	35	2094											
ENTPD4	9583	broad.mit.edu	37	chr8	23290499	23290499	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tccatccagagggcggcggcCgagctgctccggggagtgcg	5	5	18	13	5	0	1	0	0	0	1	3	3	3	2	4	5	3	2	4	5	0	0	rs367984909		TCGA-CH-5788-01A-11D-1576-08	TCGA-CH-5788-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e272bea-9193-4c10-a802-f7e18b2937a3	ebc70303-3561-4cf6-a274-8c83d1d5f9bd	g.chr8:23290499C>T	ENST00000358689.4	-	13	2026	c.1791G>A	c.(1789-1791)tcG>tcA	p.S597S	ENTPD4_ENST00000356206.6_Intron|ENTPD4_ENST00000521321.1_Intron|ENTPD4_ENST00000417069.2_Silent_p.S589S	NM_001128930.2|NM_004901.4	NP_001122402.1|NP_004892.1	Q9Y227	ENTP4_HUMAN	ectonucleoside triphosphate diphosphohydrolase 4	597					UDP catabolic process (GO:0006256)	cytoplasmic vesicle (GO:0031410)|integral component of Golgi membrane (GO:0030173)|intracellular membrane-bounded organelle (GO:0043231)	uridine-diphosphatase activity (GO:0045134)	p.S597S(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	25		Prostate(55;0.114)		Colorectal(74;0.0161)|COAD - Colon adenocarcinoma(73;0.0649)		GGGCGGCGGCCGAGCTGCTCC	0.647													C|||	1	0.000199681	0	0	5008	,	,		12680	0		0	False		,,,				2504	0.001					ENST00000358689.4																			1	Substitution - coding silent(1)	p.S597S(1)	prostate(1)	breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	25						c.(1789-1791)tcG>tcA		ectonucleoside triphosphate diphosphohydrolase 4							27	30	29					8																	23290499		2201	4300	6501	SO:0001819	synonymous_variant	9583				UDP catabolic process	autophagic vacuole membrane|cytoplasmic vesicle|integral to Golgi membrane	uridine-diphosphatase activity	g.chr8:23290499C>T	AJ131358	CCDS6041.1, CCDS47827.1	8p21.3	2014-05-16	2004-09-22	2004-09-22	ENSG00000197217	ENSG00000197217			14573	protein-coding gene	gene with protein product		607577	"lysosomal apyrase-like 1"	LYSAL1		10393803, 9205841	Standard	NM_001128930		Approved	LALP70, LAP70, KIAA0392, NTPDase-4, UDPase	uc003xdl.3	Q9Y227	OTTHUMG00000097852	ENST00000358689.4:c.1791G>A	8.37:g.23290499C>T						ENTPD4_ENST00000521321.1_Intron|ENTPD4_ENST00000356206.6_Intron|ENTPD4_ENST00000417069.2_Silent_p.S589S	p.S597S	NM_001128930.2|NM_004901.4	NP_001122402.1|NP_004892.1	Q9Y227	ENTP4_HUMAN		Colorectal(74;0.0161)|COAD - Colon adenocarcinoma(73;0.0649)	13	2026	-		Prostate(55;0.114)	597					D3DSS3|O15092	Silent	SNP	ENST00000358689.4	37	c.1791G>A	CCDS6041.1																																																																																				0.647	ENTPD4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000215142.1	NM_004901		4	4	0	0	0	0.150653	0	4	4					T	23290499	C	T	23290499	2	4	38	1	0	0	0	0	0	0	0	1	5141	639	23	2		2	ENTPD4	8	23290499	Silent	SNP	C	TCGA-CH-5788-01A-11D-1576-08		23290499	123073523	36	2095											
TRPA1	8989	broad.mit.edu	37	chr8	72963064	72963064	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgtaattggacatttattGcctggagaattatgactgaa	12	15	9	5	0	1	3	0	2	1	1	1	5	1	4	1	2	1	1	1	2	5	6			TCGA-CH-5788-01A-11D-1576-08	TCGA-CH-5788-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e272bea-9193-4c10-a802-f7e18b2937a3	ebc70303-3561-4cf6-a274-8c83d1d5f9bd	g.chr8:72963064G>A	ENST00000262209.4	-	15	2061	c.1854C>T	c.(1852-1854)ggC>ggT	p.G618G	RP11-383H13.1_ENST00000537896.1_Intron|RP11-383H13.1_ENST00000524152.1_Intron|RP11-383H13.1_ENST00000457356.4_Intron	NM_007332.2	NP_015628.2	O75762	TRPA1_HUMAN	transient receptor potential cation channel, subfamily A, member 1	618					calcium ion transmembrane transport (GO:0070588)|detection of chemical stimulus involved in sensory perception of pain (GO:0050968)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|response to cold (GO:0009409)|response to drug (GO:0042493)|response to hydrogen peroxide (GO:0042542)|response to pain (GO:0048265)|thermoception (GO:0050955)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|stereocilium bundle (GO:0032421)	calcium channel activity (GO:0005262)|channel activity (GO:0015267)	p.G618G(2)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1)	98			Epithelial(68;0.223)		Menthol(DB00825)	GACATTTATTGCCTGGAGAAT	0.338																																						ENST00000262209.4																			2	Substitution - coding silent(2)	p.G618G(2)	prostate(2)	NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1)	98						c.(1852-1854)ggC>ggT		transient receptor potential cation channel, subfamily A, member 1	Menthol(DB00825)						110	113	112					8																	72963064		2202	4297	6499	SO:0001819	synonymous_variant	8989					integral to plasma membrane		g.chr8:72963064G>A	Y10601	CCDS34908.1	8q13	2013-01-10	2003-11-20	2003-11-20	ENSG00000104321	ENSG00000104321		"Voltage-gated ion channels / Transient receptor potential cation channels", "Ankyrin repeat domain containing"	497	protein-coding gene	gene with protein product		604775	"ankyrin-like with transmembrane domains 1"	ANKTM1		16382100	Standard	NM_007332		Approved		uc003xza.3	O75762	OTTHUMG00000164516	ENST00000262209.4:c.1854C>T	8.37:g.72963064G>A						RP11-383H13.1_ENST00000537896.1_Intron|RP11-383H13.1_ENST00000457356.4_Intron|RP11-383H13.1_ENST00000524152.1_Intron	p.G618G	NM_007332.2	NP_015628.2	O75762	TRPA1_HUMAN	Epithelial(68;0.223)		15	2061	-			618					A6NIN6	Silent	SNP	ENST00000262209.4	37	c.1854C>T	CCDS34908.1																																																																																				0.338	TRPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379079.2	NM_007332		56	108	0	0	0	0.870114	0	56	108					A	72963064	G	A	72963064	2	1	38	1	0	0	0	0	0	0	0	1	16574	1306	46	3		3	TRPA1	8	72963064	Silent	SNP	G	TCGA-CH-5788-01A-11D-1576-08	49672565	72963064	73400958	37	2096											
POU5F1B	5462	broad.mit.edu	37	chr8	128428780	128428780	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttcaggagatatgcaaagcAgaaaccctcatgcaggcccg	13	6	10	12	1	2	2	2	0	0	2	2	3	2	2	2	2	4	3	2	2	3	2			TCGA-CH-5788-01A-11D-1576-08	TCGA-CH-5788-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e272bea-9193-4c10-a802-f7e18b2937a3	ebc70303-3561-4cf6-a274-8c83d1d5f9bd	g.chr8:128428780A>C	ENST00000465342.2	+	2	1826	c.669A>C	c.(667-669)gcA>gcC	p.A223A	CASC8_ENST00000501396.1_RNA|CASC8_ENST00000523825.1_RNA|POU5F1B_ENST00000391675.1_Silent_p.A223A|CASC8_ENST00000502082.1_RNA			Q06416	P5F1B_HUMAN	POU class 5 homeobox 1B	223					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.A223A(2)		lung(1)|prostate(1)|urinary_tract(1)	3						TATGCAAAGCAGAAACCCTCA	0.507																																						ENST00000465342.2																			2	Substitution - coding silent(2)	p.A223A(2)	prostate(2)	lung(1)|prostate(1)|urinary_tract(1)	3						c.(667-669)gcA>gcC		POU class 5 homeobox 1B							15	15	15					8																	128428780		692	1591	2283	SO:0001819	synonymous_variant	5462					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr8:128428780A>C	AF268615	CCDS55274.1	8q24.21	2011-06-20	2009-04-15	2009-04-15	ENSG00000212993	ENSG00000212993		"Homeoboxes / POU class"	9223	protein-coding gene	gene with protein product		615739	"POU domain class 5, transcription factor 1 pseudogene 1", "POU class 5 homeobox 1 pseudogene 1"	OTF3P1, POU5F1P1		1408763	Standard	NM_001159542		Approved	OTF3C	uc003ysf.3	Q06416	OTTHUMG00000157807	ENST00000465342.2:c.669A>C	8.37:g.128428780A>C						CASC8_ENST00000523825.1_RNA|CASC8_ENST00000502082.1_RNA|POU5F1B_ENST00000391675.1_Silent_p.A223A|CASC8_ENST00000501396.1_RNA	p.A223A			Q06416	P5F1B_HUMAN			2	1826	+			223					D5K9S4|D5K9S9|D5K9T0|D5K9T1|D5K9T3|D5K9U3|D5K9U6|D5K9V4|D5K9V6|D5K9W0|D5K9W2|D5K9W7|D5K9X2|D5K9X3|D5K9X5|D5K9X8|D5K9X9|E9LRB1|E9LRB2|E9LRH5|E9LRH6|E9LRH7|E9LRK4|E9LRK5|E9LRK7|E9LRK8|E9LRM7|E9LRM9|E9LRN2|E9LRN4|E9LRN5|E9LRP8|E9LRQ0|E9LRQ2|E9LRQ3|E9LRQ4|E9LRQ5|E9LRS3|Q2VIK6|Q9BZV7|Q9BZV9	Silent	SNP	ENST00000465342.2	37	c.669A>C	CCDS55274.1																																																																																				0.507	POU5F1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349649.2	NM_001159542		17	18	0	0	0	0.500413	0	17	18					C	128428780	A	C	128428780	2	2	38	1	0	0	0	0	0	0	0	1	12282	175	7	5		5	POU5F1B	8	128428780	Silent	SNP	A	TCGA-CH-5788-01A-11D-1576-08	55465716	128428780	17935242	38	2097											
SARDH	1757	broad.mit.edu	37	chr9	136573417	136573417	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taggggcgttacctcgtgcaGcgggtctctcctcatgttgc	4	12	13	12	3	2	0	1	0	1	0	5	0	3	0	2	3	4	3	2	3	2	3			TCGA-CH-5788-01A-11D-1576-08	TCGA-CH-5788-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e272bea-9193-4c10-a802-f7e18b2937a3	ebc70303-3561-4cf6-a274-8c83d1d5f9bd	g.chr9:136573417G>T	ENST00000371872.4	-	11	1719	c.1462C>A	c.(1462-1464)Ctg>Atg	p.L488M	SARDH_ENST00000422262.2_Missense_Mutation_p.L320M|SARDH_ENST00000439388.1_Missense_Mutation_p.L488M	NM_007101.3	NP_009032.2	Q9UL12	SARDH_HUMAN	sarcosine dehydrogenase	488					glycine catabolic process (GO:0006546)	mitochondrion (GO:0005739)	aminomethyltransferase activity (GO:0004047)|sarcosine dehydrogenase activity (GO:0008480)	p.L488M(1)		central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(13)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	44				OV - Ovarian serous cystadenocarcinoma(145;3.21e-07)|Epithelial(140;2.37e-06)|all cancers(34;2.75e-05)		ACCTCGTGCAGCGGGTCTCTC	0.632																																						ENST00000371872.4																			1	Substitution - Missense(1)	p.L488M(1)	prostate(1)	central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(13)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	44						c.(1462-1464)Ctg>Atg		sarcosine dehydrogenase							74	67	70					9																	136573417		2203	4300	6503	SO:0001583	missense	1757				glycine catabolic process	mitochondrial matrix	aminomethyltransferase activity|sarcosine dehydrogenase activity	g.chr9:136573417G>T		CCDS6978.1	9q33-q34	2008-02-05			ENSG00000123453	ENSG00000123453	1.5.99.2		10536	protein-coding gene	gene with protein product		604455		DMGDHL1		10444331	Standard	NM_007101		Approved	SDH	uc004cep.4	Q9UL12	OTTHUMG00000020879	ENST00000371872.4:c.1462C>A	9.37:g.136573417G>T	ENSP00000360938:p.Leu488Met					SARDH_ENST00000439388.1_Missense_Mutation_p.L488M|SARDH_ENST00000422262.2_Missense_Mutation_p.L320M	p.L488M	NM_007101.3	NP_009032.2	Q9UL12	SARDH_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;3.21e-07)|Epithelial(140;2.37e-06)|all cancers(34;2.75e-05)	11	1719	-			488					B2RMR5|B4DPI2|B7ZLT6|Q5SYV0|Q9Y280|Q9Y2Y3	Missense_Mutation	SNP	ENST00000371872.4	37	c.1462C>A	CCDS6978.1	.	.	.	.	.	.	.	.	.	.	G	16.59	3.166225	0.57476	.	.	ENSG00000123453	ENST00000371872;ENST00000439388;ENST00000422262;ENST00000427237	D;D;D	0.86432	-2.12;-2.12;-2.12	5.16	5.16	0.70880	.	0.227351	0.39544	N	0.001338	D	0.93517	0.7931	M	0.90309	3.105	0.80722	D	1	D	0.56746	0.977	D	0.64687	0.928	D	0.93793	0.7094	10	0.51188	T	0.08	-21.2086	12.0548	0.53529	0.0796:0.0:0.9204:0.0	.	488	Q9UL12	SARDH_HUMAN	M	488;488;320;488	ENSP00000360938:L488M;ENSP00000403084:L488M;ENSP00000415537:L320M	ENSP00000360938:L488M	L	-	1	2	SARDH	135563238	1.000000	0.71417	0.993000	0.49108	0.347000	0.29111	7.262000	0.78410	2.382000	0.81193	0.563000	0.77884	CTG		0.632	SARDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054931.1			12	76	1	0	3.07112e-06	0.38729	3.49766e-06	12	76					T	136573417	G	T	136573417	3	4	38	1	0	0	0	0	1	0	0	0	13841	962	34	5	1338	5	SARDH	9	136573417	Missense_Mutation	SNP	G	TCGA-CH-5788-01A-11D-1576-08		136573417	4640014	39	2098											
DMBT1	1755	broad.mit.edu	37	chr10	124376760	124376760	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acagacacttggccaacctcTcgtgcatcaacagcaggtaa	13	7	8	13	1	2	1	1	0	1	1	3	1	2	1	2	2	4	3	2	2	3	2	rs200632336	byFrequency	TCGA-CH-5788-01A-11D-1576-08	TCGA-CH-5788-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e272bea-9193-4c10-a802-f7e18b2937a3	ebc70303-3561-4cf6-a274-8c83d1d5f9bd	g.chr10:124376760T>G	ENST00000338354.3	+	37	4594	c.4488T>G	c.(4486-4488)tcT>tcG	p.S1496S	DMBT1_ENST00000368909.3_Silent_p.S1496S|DMBT1_ENST00000359586.6_Silent_p.S347S|DMBT1_ENST00000368956.2_Silent_p.S868S|DMBT1_ENST00000330163.4_Silent_p.S868S|DMBT1_ENST00000368955.3_Silent_p.S1486S|DMBT1_ENST00000344338.3_Silent_p.S1486S			Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	1496					defense response to virus (GO:0051607)|epithelial cell differentiation (GO:0030855)|induction of bacterial agglutination (GO:0043152)|innate immune response (GO:0045087)|inner cell mass cell proliferation (GO:0001833)|pattern recognition receptor signaling pathway (GO:0002221)|positive regulation of epithelial cell differentiation (GO:0030858)|protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)|viral process (GO:0016032)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|phagocytic vesicle membrane (GO:0030670)|proteinaceous extracellular matrix (GO:0005578)|zymogen granule membrane (GO:0042589)	calcium-dependent protein binding (GO:0048306)|scavenger receptor activity (GO:0005044)|signaling pattern recognition receptor activity (GO:0008329)|zymogen binding (GO:0035375)			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				GGCCAACCTCTCGTGCATCAA	0.448																																					Ovarian(182;93 2026 18125 22222 38972)	ENST00000338354.3																			0				breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72						c.(4486-4488)tcT>tcG		deleted in malignant brain tumors 1							394	381	385					10																	124376760		1899	4124	6023	SO:0001819	synonymous_variant	1755				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding	g.chr10:124376760T>G		CCDS44490.1, CCDS44491.1, CCDS44492.1	10q25.3-q26.1	2008-08-01			ENSG00000187908	ENSG00000187908			2926	protein-coding gene	gene with protein product		601969				9288095, 17548659	Standard	NM_004406		Approved	GP340, muclin	uc001lgk.1	Q9UGM3	OTTHUMG00000019185	ENST00000338354.3:c.4488T>G	10.37:g.124376760T>G						DMBT1_ENST00000330163.4_Silent_p.S868S|DMBT1_ENST00000368956.2_Silent_p.S868S|DMBT1_ENST00000368955.3_Silent_p.S1486S|DMBT1_ENST00000368909.3_Silent_p.S1496S|DMBT1_ENST00000344338.3_Silent_p.S1486S|DMBT1_ENST00000359586.6_Silent_p.S347S	p.S1496S			Q9UGM3	DMBT1_HUMAN			37	4594	+		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)	1496					A6NDG4|A6NDJ5|A8E4R5|B1ARE7|B1ARE8|B1ARE9|B1ARF0|B7Z8Y2|F8WEF7|Q59EX0|Q5JR26|Q6MZN4|Q96DU4|Q9UGM2|Q9UJ57|Q9UKJ4|Q9Y211|Q9Y4V9	Silent	SNP	ENST00000338354.3	37	c.4488T>G																																																																																					0.448	DMBT1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000050792.2	NM_004406		11	734	0	0	0	0.479597	0	11	734					G	124376760	T	G	124376760	2	3	38	1	0	0	0	0	0	0	0	1	4577	1538	54	5		5	DMBT1	10	124376760	Silent	SNP	T	TCGA-CH-5788-01A-11D-1576-08		124376760	11157987	40	2099											
HIPK3	10114	broad.mit.edu	37	chr11	33373268	33373268	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acttttgtggaggacactcaTgaaaacacagaattggtatc	14	11	9	7	0	1	2	1	1	0	1	2	4	1	4	0	3	1	1	0	3	4	4			TCGA-CH-5788-01A-11D-1576-08	TCGA-CH-5788-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e272bea-9193-4c10-a802-f7e18b2937a3	ebc70303-3561-4cf6-a274-8c83d1d5f9bd	g.chr11:33373268T>C	ENST00000303296.4	+	15	3227	c.2922T>C	c.(2920-2922)caT>caC	p.H974H	HIPK3_ENST00000456517.1_Silent_p.H953H|AL122015.1_ENST00000411202.1_RNA|HIPK3_ENST00000525975.1_Silent_p.H953H|HIPK3_ENST00000379016.3_Silent_p.H953H	NM_005734.3	NP_005725.3	Q9H422	HIPK3_HUMAN	homeodomain interacting protein kinase 3	974	Required for localization to nuclear speckles. {ECO:0000250}.				apoptotic process (GO:0006915)|mRNA transcription (GO:0009299)|negative regulation of apoptotic process (GO:0043066)|negative regulation of JUN kinase activity (GO:0043508)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|PML body (GO:0016605)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.H974H(1)		endometrium(3)|kidney(3)|large_intestine(9)|liver(4)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	39						AGGACACTCATGAAAACACAG	0.483																																						ENST00000303296.4																			1	Substitution - coding silent(1)	p.H974H(1)	prostate(1)	endometrium(3)|kidney(3)|large_intestine(9)|liver(4)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	39						c.(2920-2922)caT>caC		homeodomain interacting protein kinase 3							125	109	114					11																	33373268		2202	4298	6500	SO:0001819	synonymous_variant	10114				anti-apoptosis|apoptosis|negative regulation of JUN kinase activity|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm	ATP binding|protein serine/threonine kinase activity	g.chr11:33373268T>C	AF004849	CCDS7884.1, CCDS41634.1	11p13	2008-07-18	2001-11-29		ENSG00000110422	ENSG00000110422			4915	protein-coding gene	gene with protein product		604424	"homeodomain-interacting protein kinase 3"			9373137, 9748262	Standard	NM_005734		Approved	PKY, DYRK6, YAK1, FIST3	uc031pzm.1	Q9H422	OTTHUMG00000132269	ENST00000303296.4:c.2922T>C	11.37:g.33373268T>C						HIPK3_ENST00000525975.1_Silent_p.H953H|HIPK3_ENST00000456517.1_Silent_p.H953H|HIPK3_ENST00000379016.3_Silent_p.H953H	p.H974H	NM_005734.3	NP_005725.3	Q9H422	HIPK3_HUMAN			15	3227	+			974			Required for localization to nuclear speckles (By similarity).		O14632|Q2PBG4|Q2PBG5|Q92632|Q9HAS2	Silent	SNP	ENST00000303296.4	37	c.2922T>C	CCDS7884.1																																																																																				0.483	HIPK3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000255358.1	NM_005734		40	139	0	0	0	0.834066	0	40	139					C	33373268	T	C	33373268	2	2	38	1	0	0	0	0	0	0	0	1	7118	1461	51	4		4	HIPK3	11	33373268	Silent	SNP	T	TCGA-CH-5788-01A-11D-1576-08		33373268	101633248	41	2100											
ADCY6	112	broad.mit.edu	37	chr12	49176734	49176734	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agccagcagcaccgctgtgaGcagcaccagcaccgccatca	11	3	10	17	2	1	1	1	1	0	0	1	1	1	1	5	0	6	6	5	0	0	0			TCGA-CH-5788-01A-11D-1576-08	TCGA-CH-5788-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e272bea-9193-4c10-a802-f7e18b2937a3	ebc70303-3561-4cf6-a274-8c83d1d5f9bd	g.chr12:49176734G>A	ENST00000307885.4	-	1	1178	c.484C>T	c.(484-486)Ctc>Ttc	p.L162F	ADCY6_ENST00000550422.1_Missense_Mutation_p.L162F|ADCY6_ENST00000357869.3_Missense_Mutation_p.L162F	NM_015270.3	NP_056085.1	O43306	ADCY6_HUMAN	adenylate cyclase 6	162					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cAMP biosynthetic process (GO:0006171)|cellular response to catecholamine stimulus (GO:0071870)|cellular response to glucagon stimulus (GO:0071377)|cellular response to prostaglandin E stimulus (GO:0071380)|dopamine receptor signaling pathway (GO:0007212)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|negative regulation of neuron projection development (GO:0010977)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cilium (GO:0005929)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)	p.L162F(1)		breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(16)|prostate(1)|skin(1)|urinary_tract(1)	29						ACCGCTGTGAGCAGCACCAGC	0.652																																						ENST00000307885.4																			1	Substitution - Missense(1)	p.L162F(1)	prostate(1)	breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(16)|prostate(1)|skin(1)|urinary_tract(1)	29						c.(484-486)Ctc>Ttc		adenylate cyclase 6							32	35	34					12																	49176734		2203	4300	6503	SO:0001583	missense	112				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane	ATP binding|metal ion binding	g.chr12:49176734G>A		CCDS8767.1, CCDS8768.1	12q12-q13	2013-02-04				ENSG00000174233	4.6.1.1	"Adenylate cyclases"	237	protein-coding gene	gene with protein product		600294					Standard	NM_015270		Approved	AC6	uc001rsh.4	O43306		ENST00000307885.4:c.484C>T	12.37:g.49176734G>A	ENSP00000311405:p.Leu162Phe					ADCY6_ENST00000550422.1_Missense_Mutation_p.L162F|ADCY6_ENST00000357869.3_Missense_Mutation_p.L162F	p.L162F	NM_015270.3	NP_056085.1	O43306	ADCY6_HUMAN			1	1178	-			162					Q9NR75|Q9UDB0	Missense_Mutation	SNP	ENST00000307885.4	37	c.484C>T	CCDS8767.1	.	.	.	.	.	.	.	.	.	.	G	15.34	2.805116	0.50315	.	.	ENSG00000174233	ENST00000357869;ENST00000550422;ENST00000307885	T;T;T	0.78816	-1.21;-1.21;-1.21	5.36	3.25	0.37280	.	0.086329	0.47852	D	0.000205	T	0.64260	0.2582	L	0.27053	0.805	0.36732	D	0.881757	P;P	0.48503	0.568;0.911	B;P	0.45037	0.263;0.467	T	0.63906	-0.6531	10	0.22706	T	0.39	.	8.0309	0.30465	0.0942:0.2845:0.6213:0.0	.	162;162	O43306-2;O43306	.;ADCY6_HUMAN	F	162	ENSP00000350536:L162F;ENSP00000446730:L162F;ENSP00000311405:L162F	ENSP00000311405:L162F	L	-	1	0	ADCY6	47463001	1.000000	0.71417	1.000000	0.80357	0.813000	0.45954	5.336000	0.65935	2.515000	0.84797	0.462000	0.41574	CTC		0.652	ADCY6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408863.1	NM_020983		18	24	0	0	0	0.539581	0	18	24					A	49176734	G	A	49176734	3	1	38	1	0	0	0	0	1	0	0	0	298	971	34	3	3106	3	ADCY6	12	49176734	Missense_Mutation	SNP	G	TCGA-CH-5788-01A-11D-1576-08		49176734	84675161	42	2101											
SP1	6667	broad.mit.edu	37	chr12	53804756	53804756	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtgtcctaagcgcttcatgaGgagtgaccacctgtcaaaac	11	9	10	11	1	2	2	2	2	0	0	3	3	3	3	3	1	2	1	3	1	3	2			TCGA-CH-5788-01A-11D-1576-08	TCGA-CH-5788-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e272bea-9193-4c10-a802-f7e18b2937a3	ebc70303-3561-4cf6-a274-8c83d1d5f9bd	g.chr12:53804756G>A	ENST00000327443.4	+	6	2188	c.2090G>A	c.(2089-2091)aGg>aAg	p.R697K	SP1_ENST00000426431.2_Missense_Mutation_p.R690K	NM_001251825.1|NM_138473.2	NP_001238754.1|NP_612482.2	P08047	SP1_HUMAN	Sp1 transcription factor	697	VZV IE62-binding.				cellular lipid metabolic process (GO:0044255)|definitive hemopoiesis (GO:0060216)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic placenta development (GO:0001892)|embryonic process involved in female pregnancy (GO:0060136)|embryonic skeletal system development (GO:0048706)|enucleate erythrocyte differentiation (GO:0043353)|gene expression (GO:0010467)|liver development (GO:0001889)|lung development (GO:0030324)|megakaryocyte differentiation (GO:0030219)|ossification (GO:0001503)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|rhythmic process (GO:0048511)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|trophectodermal cell differentiation (GO:0001829)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein-DNA complex (GO:0032993)	bHLH transcription factor binding (GO:0043425)|core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|enhancer binding (GO:0035326)|histone deacetylase binding (GO:0042826)|HMG box domain binding (GO:0071837)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II repressing transcription factor binding (GO:0001103)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)	p.R697K(1)		breast(1)|large_intestine(1)|ovary(1)|skin(1)|stomach(1)	5				BRCA - Breast invasive adenocarcinoma(357;0.00527)		CGCTTCATGAGGAGTGACCAC	0.493																																						ENST00000426431.2																			1	Substitution - Missense(1)	p.R697K(1)	prostate(1)	breast(1)|large_intestine(1)|ovary(1)|skin(1)|stomach(1)	5						c.(2068-2070)aGg>aAg		Sp1 transcription factor							160	166	164					12																	53804756		2203	4300	6503	SO:0001583	missense	0				positive regulation by host of viral transcription|positive regulation of transcription from RNA polymerase II promoter	cytoplasm	double-stranded DNA binding|histone deacetylase binding|HMG box domain binding|protein C-terminus binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding	g.chr12:53804756G>A	J03133	CCDS8857.1, CCDS44898.1	12q13.1	2013-01-08						"Specificity protein transcription factors", "Zinc fingers, C2H2-type"	11205	protein-coding gene	gene with protein product	"specificity protein 1"	189906				1662663	Standard	NM_003109		Approved		uc001scw.3	P08047	OTTHUMG00000170047	ENST00000327443.4:c.2090G>A	12.37:g.53804756G>A	ENSP00000329357:p.Arg697Lys					SP1_ENST00000327443.4_Missense_Mutation_p.R697K	p.R690K	NM_003109.1	NP_003100.1	P08047	SP1_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.00527)	6	2129	+			697			VZV IE62-binding.		E4Z9M7|G5E9M8|Q86TN8|Q9H3Q5|Q9NR51|Q9NY21|Q9NYE7	Missense_Mutation	SNP	ENST00000327443.4	37	c.2069G>A	CCDS8857.1	.	.	.	.	.	.	.	.	.	.	G	23.4	4.413387	0.83449	.	.	ENSG00000185591	ENST00000327443;ENST00000426431	T;T	0.12361	2.73;2.69	4.92	4.92	0.64577	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.64402	D	0.000005	T	0.30916	0.0780	L	0.45285	1.41	0.80722	D	1	D	0.63046	0.992	D	0.74348	0.983	T	0.01218	-1.1415	10	0.87932	D	0	.	17.4273	0.87529	0.0:0.0:1.0:0.0	.	697	P08047	SP1_HUMAN	K	697;690	ENSP00000329357:R697K;ENSP00000404263:R690K	ENSP00000329357:R697K	R	+	2	0	SP1	52091023	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.620000	0.98373	2.729000	0.93468	0.467000	0.42956	AGG		0.493	SP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407044.1			143	195	0	0	0	0.870114	0	143	195					A	53804756	G	A	53804756	3	1	38	1	0	0	0	0	1	0	0	0	14959	1000	35	3	2112	3	SP1	12	53804756	Missense_Mutation	SNP	G	TCGA-CH-5788-01A-11D-1576-08	4628022	53804756	80047139	43	2102											
NCKAP1L	3071	broad.mit.edu	37	chr12	54903701	54903701	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accagggggctgagcagtggCgcagtgcccaacttctaagc	9	6	14	12	1	1	1	0	1	1	0	1	1	1	1	2	3	4	3	2	3	2	2			TCGA-CH-5788-01A-11D-1576-08	TCGA-CH-5788-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e272bea-9193-4c10-a802-f7e18b2937a3	ebc70303-3561-4cf6-a274-8c83d1d5f9bd	g.chr12:54903701C>T	ENST00000293373.6	+	7	746	c.667C>T	c.(667-669)Cgc>Tgc	p.R223C	NCKAP1L_ENST00000545638.2_Missense_Mutation_p.R173C|NCKAP1L_ENST00000552211.1_3'UTR	NM_005337.4	NP_005328.2	P55160	NCKPL_HUMAN	NCK-associated protein 1-like	223					actin polymerization-dependent cell motility (GO:0070358)|B cell homeostasis (GO:0001782)|B cell receptor signaling pathway (GO:0050853)|chemotaxis (GO:0006935)|cortical actin cytoskeleton organization (GO:0030866)|erythrocyte development (GO:0048821)|maintenance of cell polarity (GO:0030011)|myeloid cell homeostasis (GO:0002262)|negative regulation of apoptotic process (GO:0043066)|negative regulation of interleukin-17 production (GO:0032700)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of myosin-light-chain-phosphatase activity (GO:0035509)|neutrophil chemotaxis (GO:0030593)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of CD4-positive, alpha-beta T cell differentiation (GO:0043372)|positive regulation of CD8-positive, alpha-beta T cell differentiation (GO:0043378)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of gamma-delta T cell differentiation (GO:0045588)|positive regulation of lymphocyte differentiation (GO:0045621)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of phagocytosis, engulfment (GO:0060100)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of T cell proliferation (GO:0042102)|protein complex assembly (GO:0006461)|response to drug (GO:0042493)|T cell homeostasis (GO:0043029)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|SCAR complex (GO:0031209)	protein complex binding (GO:0032403)|protein kinase activator activity (GO:0030295)|Rac GTPase activator activity (GO:0030675)	p.R223C(1)		NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2)	80						TGAGCAGTGGCGCAGTGCCCA	0.517																																						ENST00000293373.6																			1	Substitution - Missense(1)	p.R223C(1)	prostate(1)	NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2)	80						c.(667-669)Cgc>Tgc		NCK-associated protein 1-like							154	151	152					12																	54903701		2203	4300	6503	SO:0001583	missense	3071				actin polymerization-dependent cell motility|B cell homeostasis|B cell receptor signaling pathway|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of actin filament polymerization|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|positive regulation of T cell proliferation|protein complex assembly|response to drug|T cell homeostasis	cytosol|integral to plasma membrane|membrane fraction|SCAR complex	protein complex binding|protein kinase activator activity|Rac GTPase activator activity	g.chr12:54903701C>T	AI924363	CCDS31813.1, CCDS53799.1	12q13.1	2005-10-11	2005-10-11	2005-10-11		ENSG00000123338			4862	protein-coding gene	gene with protein product		141180	"hematopoietic protein 1"	HEM1		1932118	Standard	NM_005337		Approved		uc001sgc.4	P55160	OTTHUMG00000169843	ENST00000293373.6:c.667C>T	12.37:g.54903701C>T	ENSP00000293373:p.Arg223Cys					NCKAP1L_ENST00000552211.1_3'UTR|NCKAP1L_ENST00000545638.2_Missense_Mutation_p.R173C	p.R223C	NM_005337.4	NP_005328.2	P55160	NCKPL_HUMAN			7	746	+			223					B4DUT5|Q52LW0	Missense_Mutation	SNP	ENST00000293373.6	37	c.667C>T	CCDS31813.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.155505	0.78114	.	.	ENSG00000123338	ENST00000293373;ENST00000545638	T;T	0.57752	0.38;0.38	5.83	4.94	0.65067	.	0.000000	0.85682	D	0.000000	T	0.72285	0.3441	M	0.80616	2.505	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.76162	-0.3060	10	0.87932	D	0	-12.4271	11.8672	0.52501	0.3176:0.6824:0.0:0.0	.	223	P55160	NCKPL_HUMAN	C	223;173	ENSP00000293373:R223C;ENSP00000445596:R173C	ENSP00000293373:R223C	R	+	1	0	NCKAP1L	53189968	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	1.769000	0.38522	1.434000	0.47414	0.563000	0.77884	CGC		0.517	NCKAP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406195.1	NM_005337		10	266	0	0	0	0.335167	0	10	266					T	54903701	C	T	54903701	3	4	38	1	0	0	0	0	1	0	0	0	10222	768	27	1	693	1	NCKAP1L	12	54903701	Missense_Mutation	SNP	C	TCGA-CH-5788-01A-11D-1576-08	1098945	54903701	78948194	44	2103											
LRIG3	121227	broad.mit.edu	37	chr12	59283855	59283855	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ctgttcagctttaacacaagGagtgtgttggccaaattgtc	10	13	10	8	0	1	0	1	0	0	0	2	1	1	1	1	2	2	3	1	2	3	5			TCGA-CH-5788-01A-11D-1576-08	TCGA-CH-5788-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e272bea-9193-4c10-a802-f7e18b2937a3	ebc70303-3561-4cf6-a274-8c83d1d5f9bd	g.chr12:59283855G>A	ENST00000320743.3	-	5	868	c.582C>T	c.(580-582)ctC>ctT	p.L194L	LRIG3_ENST00000379141.4_Silent_p.L134L	NM_153377.4	NP_700356.2	Q6UXM1	LRIG3_HUMAN	leucine-rich repeats and immunoglobulin-like domains 3	194					otolith morphogenesis (GO:0032474)	cytoplasmic vesicle (GO:0031410)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)			LRIG3/ROS1(2)	breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(12)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48			GBM - Glioblastoma multiforme(1;1.17e-18)			TTAACACAAGGAGTGTGTTGG	0.423			T	ROS1	NSCLC																																	ENST00000320743.3				Dom	yes		12	12q14.1	121227	T	leucine-rich repeats and immunoglobulin-like domains 3			E	ROS1		NSCLC	LRIG3/ROS1(2)	0				breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(12)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						c.(580-582)ctC>ctT		leucine-rich repeats and immunoglobulin-like domains 3							259	250	253					12																	59283855		2203	4300	6503	SO:0001819	synonymous_variant	121227					integral to membrane		g.chr12:59283855G>A	AY505340	CCDS8960.1, CCDS44933.1	12q13.2	2013-01-11				ENSG00000139263		"Immunoglobulin superfamily / I-set domain containing"	30991	protein-coding gene	gene with protein product		608870					Standard	NM_153377		Approved	FLJ90440, KIAA3016	uc001sqr.4	Q6UXM1	OTTHUMG00000169940	ENST00000320743.3:c.582C>T	12.37:g.59283855G>A						LRIG3_ENST00000379141.4_Silent_p.L134L	p.L194L	NM_153377.4	NP_700356.2	Q6UXM1	LRIG3_HUMAN	GBM - Glioblastoma multiforme(1;1.17e-18)		5	868	-			194					Q6UXL7|Q8NC72	Silent	SNP	ENST00000320743.3	37	c.582C>T	CCDS8960.1																																																																																				0.423	LRIG3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406623.1	NM_153377		6	412	0	0	0	0.307466	0	6	412					A	59283855	G	A	59283855	2	1	38	1	0	0	0	0	0	0	0	1	8946	1161	41	3		3	LRIG3	12	59283855	Silent	SNP	G	TCGA-CH-5788-01A-11D-1576-08	4380154	59283855	74568040	45	2104											
C12orf64	283310	broad.mit.edu	37	chr12	80658832	80658832	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaggagctctttgctccttGccacatctatattagccctg	7	13	7	14	0	2	0	0	0	2	0	3	1	3	1	4	1	4	2	4	1	3	5			TCGA-CH-5788-01A-11D-1576-08	TCGA-CH-5788-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e272bea-9193-4c10-a802-f7e18b2937a3	ebc70303-3561-4cf6-a274-8c83d1d5f9bd	g.chr12:80658832G>T	ENST00000547103.1	+	19	2045	c.2039G>T	c.(2038-2040)tGc>tTc	p.C680F	OTOGL_ENST00000458043.2_Missense_Mutation_p.C680F			Q3ZCN5	OTOGL_HUMAN	otogelin-like	680	VWFD 2. {ECO:0000255|PROSITE- ProRule:PRU00580}.				L-arabinose metabolic process (GO:0046373)	extracellular region (GO:0005576)	alpha-L-arabinofuranosidase activity (GO:0046556)	p.C680F(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						TTTGCTCCTTGCCACATCTAT	0.493																																						ENST00000458043.2																			1	Substitution - Missense(1)	p.C680F(1)	prostate(1)	breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						c.(2038-2040)tGc>tTc		otogelin-like							194	195	194					12																	80658832		2040	4211	6251	SO:0001583	missense	283310							g.chr12:80658832G>T	AK096852		12q21.31	2011-02-11	2011-02-11	2011-02-11	ENSG00000165899	ENSG00000165899			26901	protein-coding gene	gene with protein product		614925	"chromosome 12 open reading frame 64"	C12orf64			Standard	NM_173591		Approved	FLJ90579	uc001szd.3	Q3ZCN5	OTTHUMG00000150509	ENST00000547103.1:c.2039G>T	12.37:g.80658832G>T	ENSP00000447211:p.Cys680Phe					OTOGL_ENST00000547103.1_Missense_Mutation_p.C680F	p.C680F	NM_173591.3	NP_775862.3					19	2045	+								F8W0C3|Q495U8|Q8N8G5|Q8NC28	Missense_Mutation	SNP	ENST00000547103.1	37	c.2039G>T		.	.	.	.	.	.	.	.	.	.	G	20.9	4.073840	0.76415	.	.	ENSG00000165899	ENST00000547103;ENST00000458043	D;D	0.86297	-2.1;-2.1	6.06	6.06	0.98353	.	.	.	.	.	D	0.96300	0.8793	H	0.96943	3.91	0.80722	D	1	.	.	.	.	.	.	D	0.96754	0.9556	7	0.87932	D	0	.	20.6208	0.99490	0.0:0.0:1.0:0.0	.	.	.	.	F	680	ENSP00000447211:C680F;ENSP00000400895:C680F	ENSP00000400895:C680F	C	+	2	0	OTOGL	79182963	1.000000	0.71417	1.000000	0.80357	0.560000	0.35617	9.476000	0.97823	2.882000	0.98803	0.655000	0.94253	TGC		0.493	OTOGL-001	NOVEL	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000407438.1	NM_173591		172	270	1	0	1.05207e-69	0.870114	1.30711e-69	172	270					T	80658832	G	T	80658832	3	4	38	1	0	0	0	0	1	0	0	0	1707	1319	46	5	2113	5	C12orf64	12	80658832	Missense_Mutation	SNP	G	TCGA-CH-5788-01A-11D-1576-08	21374977	80658832	53193063	46	2105											
TPPP2	122664	broad.mit.edu	37	chr14	21498804	21498804	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttggagaatcatcaagcagtGgcactgaaatgaacaacaag	17	7	10	7	0	2	3	2	2	0	1	2	4	2	3	0	2	3	2	0	2	6	1			TCGA-CH-5788-01A-11D-1576-08	TCGA-CH-5788-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e272bea-9193-4c10-a802-f7e18b2937a3	ebc70303-3561-4cf6-a274-8c83d1d5f9bd	g.chr14:21498804G>A	ENST00000321760.6	+	2	212	c.64G>A	c.(64-66)Ggc>Agc	p.G22S	AL161668.5_ENST00000533984.1_lincRNA|NDRG2_ENST00000403829.3_Intron|TPPP2_ENST00000460647.2_Missense_Mutation_p.G22S|RP11-998D10.1_ENST00000531638.1_5'Flank|TPPP2_ENST00000530140.2_Missense_Mutation_p.G22S	NM_173846.4	NP_776245.2	P59282	TPPP2_HUMAN	tubulin polymerization-promoting protein family member 2	22						cytoplasm (GO:0005737)		p.G22S(1)		endometrium(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	9	all_cancers(95;0.000759)		OV - Ovarian serous cystadenocarcinoma(11;6.85e-11)|Epithelial(56;9.49e-09)|all cancers(55;3.84e-08)	GBM - Glioblastoma multiforme(265;0.0191)		ATCAAGCAGTGGCACTGAAAT	0.517																																						ENST00000321760.6																			1	Substitution - Missense(1)	p.G22S(1)	prostate(1)	endometrium(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	9						c.(64-66)Ggc>Agc		tubulin polymerization-promoting protein family member 2							102	71	82					14																	21498804		2203	4300	6503	SO:0001583	missense	122664					cytoplasm		g.chr14:21498804G>A	AY072034	CCDS9566.1	14q11.2	2014-01-21	2007-05-02	2007-05-02	ENSG00000179636	ENSG00000179636			19293	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 8"	C14orf8		15590652, 17105200	Standard	NM_173846		Approved	p25beta, p18, CT152	uc001vzh.3	P59282	OTTHUMG00000029642	ENST00000321760.6:c.64G>A	14.37:g.21498804G>A	ENSP00000317595:p.Gly22Ser					TPPP2_ENST00000530140.2_Missense_Mutation_p.G22S|TPPP2_ENST00000460647.2_Missense_Mutation_p.G22S|NDRG2_ENST00000403829.3_Intron	p.G22S	NM_173846.4	NP_776245.2	P59282	TPPP2_HUMAN	OV - Ovarian serous cystadenocarcinoma(11;6.85e-11)|Epithelial(56;9.49e-09)|all cancers(55;3.84e-08)	GBM - Glioblastoma multiforme(265;0.0191)	2	212	+	all_cancers(95;0.000759)		22					Q2VYF3	Missense_Mutation	SNP	ENST00000321760.6	37	c.64G>A	CCDS9566.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.021622	0.75275	.	.	ENSG00000179636	ENST00000321760;ENST00000460647;ENST00000530140;ENST00000472458;ENST00000481535	T;T;T;T;T	0.41400	1.0;1.0;1.0;1.0;1.0	5.37	2.5	0.30297	.	0.229978	0.44902	N	0.000409	T	0.43211	0.1237	M	0.70903	2.155	0.44447	D	0.997379	B	0.11235	0.004	B	0.30716	0.119	T	0.28235	-1.0050	10	0.40728	T	0.16	-10.2012	9.2632	0.37625	0.2428:0.0:0.7572:0.0	.	22	P59282	TPPP2_HUMAN	S	22;22;22;22;17	ENSP00000317595:G22S;ENSP00000427504:G22S;ENSP00000435356:G22S;ENSP00000423171:G22S;ENSP00000421438:G17S	ENSP00000317595:G22S	G	+	1	0	TPPP2	20568644	1.000000	0.71417	0.002000	0.10522	0.965000	0.64279	5.709000	0.68384	0.314000	0.23086	0.655000	0.94253	GGC		0.517	TPPP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073914.3	NM_173846		28	36	0	0	0	0.693898	0	28	36					A	21498804	G	A	21498804	3	1	38	1	0	0	0	0	1	0	0	0	16411	1348	47	3	66	3	TPPP2	14	21498804	Missense_Mutation	SNP	G	TCGA-CH-5788-01A-11D-1576-08		21498804	85850736	47	2106											
SPG11	80208	broad.mit.edu	37	chr15	44944401	44944401	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggatcatcttcatctacgccCttaggtccttgaataggaag	10	12	9	10	1	4	1	2	1	2	0	5	3	5	3	2	3	1	0	2	3	5	5			TCGA-CH-5788-01A-11D-1576-08	TCGA-CH-5788-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e272bea-9193-4c10-a802-f7e18b2937a3	ebc70303-3561-4cf6-a274-8c83d1d5f9bd	g.chr15:44944401C>A	ENST00000261866.7	-	5	949	c.933G>T	c.(931-933)aaG>aaT	p.K311N	SPG11_ENST00000535302.2_Missense_Mutation_p.K311N|SPG11_ENST00000558319.1_Missense_Mutation_p.K311N|SPG11_ENST00000427534.2_Missense_Mutation_p.K311N|SPG11_ENST00000559193.1_Missense_Mutation_p.K311N	NM_025137.3	NP_079413.3	Q96JI7	SPTCS_HUMAN	spastic paraplegia 11 (autosomal recessive)	311					cell death (GO:0008219)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	72		all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122)		all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214)		CATCTACGCCCTTAGGTCCTT	0.373																																						ENST00000261866.7																			0				autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	72						c.(931-933)aaG>aaT		spastic paraplegia 11 (autosomal recessive)							129	116	120					15																	44944401		2198	4298	6496	SO:0001583	missense	80208				cell death	cytosol|integral to membrane|nucleus	protein binding	g.chr15:44944401C>A		CCDS10112.1, CCDS53939.1	15q13-q15	2007-11-13			ENSG00000104133	ENSG00000104133			11226	protein-coding gene	gene with protein product	"spatacsin"	610844	"KIAA1840"	KIAA1840		10408536, 17322883	Standard	NM_001160227		Approved	FLJ21439	uc001ztx.3	Q96JI7	OTTHUMG00000131199	ENST00000261866.7:c.933G>T	15.37:g.44944401C>A	ENSP00000261866:p.Lys311Asn					SPG11_ENST00000427534.2_Missense_Mutation_p.K311N|SPG11_ENST00000535302.2_Missense_Mutation_p.K311N|SPG11_ENST00000558319.1_Missense_Mutation_p.K311N|SPG11_ENST00000559193.1_Missense_Mutation_p.K311N	p.K311N	NM_025137.3	NP_079413.3	Q96JI7	SPTCS_HUMAN		all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214)	5	949	-		all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122)	311					A8KAX9|B9EK60|F5H3N6|Q4VC11|Q58G86|Q69YG6|Q6NW01|Q8N270|Q8TBU9|Q9H734	Missense_Mutation	SNP	ENST00000261866.7	37	c.933G>T	CCDS10112.1	.	.	.	.	.	.	.	.	.	.	C	9.469	1.095021	0.20471	.	.	ENSG00000104133	ENST00000261866;ENST00000535302;ENST00000427534	T;T;T	0.77489	-1.1;-0.84;-0.84	4.98	0.0854	0.14441	.	0.657162	0.13932	N	0.352812	T	0.65026	0.2652	L	0.44542	1.39	0.22401	N	0.999134	B;B;B;B	0.32467	0.118;0.306;0.372;0.118	B;B;B;B	0.30316	0.07;0.1;0.114;0.07	T	0.54180	-0.8332	10	0.45353	T	0.12	.	6.6687	0.23056	0.0:0.3894:0.0:0.6106	.	311;311;311;311	C4B7M2;F5H3N6;B9EK60;Q96JI7	.;.;.;SPTCS_HUMAN	N	311	ENSP00000261866:K311N;ENSP00000445278:K311N;ENSP00000396110:K311N	ENSP00000261866:K311N	K	-	3	2	SPG11	42731693	0.040000	0.19996	0.972000	0.41901	0.518000	0.34316	-0.152000	0.10159	0.155000	0.19261	0.313000	0.20887	AAG		0.373	SPG11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253927.1			4	181	1	0	0.00909568	0.150653	0.00956213	4	181					A	44944401	C	A	44944401	3	1	38	1	0	0	0	0	1	0	0	0	15040	680	24	5	6542	5	SPG11	15	44944401	Missense_Mutation	SNP	C	TCGA-CH-5788-01A-11D-1576-08		44944401	57586991	48	2107											
PRTG	283659	broad.mit.edu	37	chr15	55964737	55964737	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgtagtacagcttgtagccCtgaatagcagctgtgtcctc	8	13	10	10	0	0	1	0	1	0	0	2	1	1	1	2	0	5	6	2	0	5	6			TCGA-CH-5788-01A-11D-1576-08	TCGA-CH-5788-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e272bea-9193-4c10-a802-f7e18b2937a3	ebc70303-3561-4cf6-a274-8c83d1d5f9bd	g.chr15:55964737C>T	ENST00000389286.4	-	11	1994	c.1947G>A	c.(1945-1947)caG>caA	p.Q649Q		NM_173814.4	NP_776175.2			protogenin									p.Q649Q(1)		breast(1)|endometrium(6)|kidney(4)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	41				all cancers(107;0.00891)|GBM - Glioblastoma multiforme(80;0.135)		GCTTGTAGCCCTGAATAGCAG	0.498																																						ENST00000389286.4																			1	Substitution - coding silent(1)	p.Q649Q(1)	prostate(1)	breast(1)|endometrium(6)|kidney(4)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	41						c.(1945-1947)caG>caA		protogenin							116	115	115					15																	55964737		1948	4124	6072	SO:0001819	synonymous_variant	283659				multicellular organismal development	integral to membrane		g.chr15:55964737C>T	AK098622	CCDS42040.1	15q21.3	2013-02-11	2010-06-24		ENSG00000166450	ENSG00000166450		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	26373	protein-coding gene	gene with protein product	"immunoglobulin superfamily, DCC subclass, member 5"	613261	"protogenin homolog (Gallus gallus)"				Standard	NM_173814		Approved	FLJ25756, IGDCC5	uc002adg.3	Q2VWP7		ENST00000389286.4:c.1947G>A	15.37:g.55964737C>T							p.Q649Q	NM_173814.4	NP_776175.2	Q2VWP7	PRTG_HUMAN		all cancers(107;0.00891)|GBM - Glioblastoma multiforme(80;0.135)	11	1994	-			649			Fibronectin type-III 3.			Silent	SNP	ENST00000389286.4	37	c.1947G>A	CCDS42040.1																																																																																				0.498	PRTG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419357.1	NM_173814		45	79	0	0	0	0.859065	0	45	79					T	55964737	C	T	55964737	2	4	38	1	0	0	0	0	0	0	0	1	12638	680	24	3		3	PRTG	15	55964737	Silent	SNP	C	TCGA-CH-5788-01A-11D-1576-08	11020336	55964737	46566655	49	2108											
DPP8	54878	broad.mit.edu	37	chr15	65780073	65780073	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgccctccttgtttccaacaTaggggatgtaacatgaataa	12	12	8	9	0	0	1	0	1	0	0	2	2	2	2	3	2	3	2	3	2	5	5			TCGA-CH-5788-01A-11D-1576-08	TCGA-CH-5788-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e272bea-9193-4c10-a802-f7e18b2937a3	ebc70303-3561-4cf6-a274-8c83d1d5f9bd	g.chr15:65780073T>C	ENST00000341861.5	-	7	2538	c.958A>G	c.(958-960)Atg>Gtg	p.M320V	DPP8_ENST00000300141.6_Missense_Mutation_p.M304V|DPP8_ENST00000321118.7_Missense_Mutation_p.M320V|DPP8_ENST00000339244.5_Missense_Mutation_p.M320V|DPP8_ENST00000559233.1_Missense_Mutation_p.M320V|DPP8_ENST00000321147.6_Missense_Mutation_p.M320V|DPP8_ENST00000358939.4_Missense_Mutation_p.M304V	NM_197960.2	NP_932064.1	Q6V1X1	DPP8_HUMAN	dipeptidyl-peptidase 8	320					immune response (GO:0006955)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	dipeptidyl-peptidase activity (GO:0008239)|serine-type peptidase activity (GO:0008236)	p.M304V(1)		NS(1)|breast(2)|endometrium(3)|large_intestine(11)|lung(11)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						GTTTCCAACATAGGGGATGTA	0.338																																						ENST00000341861.5																			1	Substitution - Missense(1)	p.M304V(1)	prostate(1)	NS(1)|breast(2)|endometrium(3)|large_intestine(11)|lung(11)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(958-960)Atg>Gtg		dipeptidyl-peptidase 8							137	132	133					15																	65780073		2201	4299	6500	SO:0001583	missense	54878				immune response|proteolysis	cytoplasm|membrane|nucleus	aminopeptidase activity|dipeptidyl-peptidase activity|serine-type peptidase activity	g.chr15:65780073T>C	AF221634	CCDS10207.1, CCDS10208.1, CCDS10209.1, CCDS10210.1	15q22	2008-07-18	2006-01-12		ENSG00000074603	ENSG00000074603			16490	protein-coding gene	gene with protein product	"dipeptidyl peptidase VIII", "dipeptidyl peptidase IV-related protein-1", "prolyl dipeptidase DPP8"	606819	"dipeptidylpeptidase 8"			11012666	Standard	XM_005254500		Approved	DP8, DPRP1, MSTP141, FLJ14920, FLJ20283, MGC26191	uc002aox.3	Q6V1X1	OTTHUMG00000133150	ENST00000341861.5:c.958A>G	15.37:g.65780073T>C	ENSP00000339208:p.Met320Val					DPP8_ENST00000559233.1_Missense_Mutation_p.M320V|DPP8_ENST00000358939.4_Missense_Mutation_p.M304V|DPP8_ENST00000300141.6_Missense_Mutation_p.M304V|DPP8_ENST00000339244.5_Missense_Mutation_p.M320V|DPP8_ENST00000321118.7_Missense_Mutation_p.M320V|DPP8_ENST00000321147.6_Missense_Mutation_p.M320V	p.M320V	NM_197960.2	NP_932064.1	Q6V1X1	DPP8_HUMAN			7	2538	-			320					Q7Z4C8|Q7Z4D3|Q7Z4E1|Q8IWG7|Q8NEM5|Q96JX1|Q9HBM2|Q9HBM3|Q9HBM4|Q9HBM5|Q9NXF4	Missense_Mutation	SNP	ENST00000341861.5	37	c.958A>G	CCDS10207.1	.	.	.	.	.	.	.	.	.	.	T	11.34	1.608997	0.28623	.	.	ENSG00000074603	ENST00000341861;ENST00000358939;ENST00000300141;ENST00000321147;ENST00000321118;ENST00000339244;ENST00000395652	T;T;T;T;T;T;T	0.28255	1.62;1.62;1.62;1.62;1.62;1.62;1.62	5.64	1.92	0.25849	Peptidase S9B, dipeptidylpeptidase IV N-terminal (1);	0.117408	0.64402	D	0.000019	T	0.18299	0.0439	N	0.25647	0.755	0.20403	N	0.999904	B;B;B;B;B	0.14438	0.008;0.003;0.003;0.01;0.004	B;B;B;B;B	0.20577	0.012;0.002;0.01;0.03;0.027	T	0.27331	-1.0077	10	0.17832	T	0.49	-19.2679	8.5312	0.33335	0.1177:0.0:0.2747:0.6076	.	320;304;304;320;320	C9JSG1;Q6V1X1-3;Q6V1X1-4;Q6V1X1-2;Q6V1X1	.;.;.;.;DPP8_HUMAN	V	320;304;304;320;320;320;320	ENSP00000339208:M320V;ENSP00000351817:M304V;ENSP00000300141:M304V;ENSP00000318111:M320V;ENSP00000316373:M320V;ENSP00000341230:M320V;ENSP00000379013:M320V	ENSP00000300141:M304V	M	-	1	0	DPP8	63567126	0.992000	0.36948	0.998000	0.56505	0.992000	0.81027	2.278000	0.43426	0.064000	0.16427	0.477000	0.44152	ATG		0.338	DPP8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256847.1	NM_017743		20	247	0	0	0	0.575678	0	20	247					C	65780073	T	C	65780073	3	2	38	1	0	0	0	0	1	0	0	0	4732	1406	49	4	1794	4	DPP8	15	65780073	Missense_Mutation	SNP	T	TCGA-CH-5788-01A-11D-1576-08	9815336	65780073	36751319	50	2109											
MYO9A	4649	broad.mit.edu	37	chr15	72193592	72193592	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcctacacagcaagaccctGaaccatcgctgcaacaatat	14	7	6	14	1	0	2	0	1	0	1	1	2	0	2	3	0	6	3	3	0	6	2			TCGA-CH-5788-01A-11D-1576-08	TCGA-CH-5788-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e272bea-9193-4c10-a802-f7e18b2937a3	ebc70303-3561-4cf6-a274-8c83d1d5f9bd	g.chr15:72193592G>T	ENST00000356056.5	-	23	3562	c.3090C>A	c.(3088-3090)ttC>ttA	p.F1030L	MYO9A_ENST00000444904.1_Missense_Mutation_p.F1011L|MYO9A_ENST00000564571.1_Missense_Mutation_p.F1030L|MYO9A_ENST00000424560.1_Missense_Mutation_p.F1030L|MYO9A_ENST00000566885.1_Missense_Mutation_p.F650L|MYO9A_ENST00000563542.1_5'UTR	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN	myosin IXA	1030	IQ 1. {ECO:0000255|PROSITE- ProRule:PRU00116}.|Neck or regulatory domain.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|visual perception (GO:0007601)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|unconventional myosin complex (GO:0016461)	ATP binding (GO:0005524)|GTPase activator activity (GO:0005096)|metal ion binding (GO:0046872)|motor activity (GO:0003774)	p.F1030L(1)		NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						GCAAGACCCTGAACCATCGCT	0.453																																						ENST00000356056.5																			1	Substitution - Missense(1)	p.F1030L(1)	prostate(1)	NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						c.(3088-3090)ttC>ttA		myosin IXA							127	106	113					15																	72193592		2199	4297	6496	SO:0001583	missense	4649				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception	cytosol|integral to membrane|unconventional myosin complex	actin binding|ATP binding|GTPase activator activity|metal ion binding|motor activity	g.chr15:72193592G>T	AF117888	CCDS10239.1	15q22-q23	2011-09-27			ENSG00000066933	ENSG00000066933		"Myosins / Myosin superfamily : Class IX"	7608	protein-coding gene	gene with protein product		604875				10409426	Standard	NM_006901		Approved	FLJ11061, FLJ13244, MGC71859	uc002atl.5	B2RTY4	OTTHUMG00000133440	ENST00000356056.5:c.3090C>A	15.37:g.72193592G>T	ENSP00000348349:p.Phe1030Leu					MYO9A_ENST00000566885.1_Missense_Mutation_p.F650L|MYO9A_ENST00000564571.1_Missense_Mutation_p.F1030L|MYO9A_ENST00000563542.1_5'UTR|MYO9A_ENST00000424560.1_Missense_Mutation_p.F1030L|MYO9A_ENST00000444904.1_Missense_Mutation_p.F1011L	p.F1030L	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN			23	3562	-			1030			IQ 1.|Neck or regulatory domain.		B0I1T5|C9IYB3|C9JA86|Q14787|Q3YLD7|Q3YLD8|Q6P986|Q9H8T5|Q9NTG2|Q9NUY2|Q9UEP3|Q9UNJ2	Missense_Mutation	SNP	ENST00000356056.5	37	c.3090C>A	CCDS10239.1	.	.	.	.	.	.	.	.	.	.	G	18.05	3.536032	0.64972	.	.	ENSG00000066933	ENST00000356056;ENST00000424560;ENST00000444904;ENST00000261864	T;T;T	0.71579	-0.58;-0.58;-0.58	6.07	3.14	0.36123	.	.	.	.	.	T	0.64483	0.2602	L	0.58810	1.83	0.47547	D	0.999455	P;B;P	0.40230	0.708;0.033;0.589	B;B;B	0.40534	0.332;0.036;0.145	T	0.62383	-0.6866	9	0.48119	T	0.1	.	7.0965	0.25313	0.1928:0.0:0.6877:0.1195	.	1011;1011;1030	B2RTY4-2;B7WP69;B2RTY4	.;.;MYO9A_HUMAN	L	1030;1030;1011;1011	ENSP00000348349:F1030L;ENSP00000399162:F1030L;ENSP00000398250:F1011L	ENSP00000261864:F1011L	F	-	3	2	MYO9A	69980646	1.000000	0.71417	0.998000	0.56505	0.991000	0.79684	3.677000	0.54619	0.877000	0.35895	0.655000	0.94253	TTC		0.453	MYO9A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257308.1	NM_006901		42	75	1	0	4.01765e-15	0.847076	4.7746e-15	42	75					T	72193592	G	T	72193592	3	4	38	1	0	0	0	0	1	0	0	0	10084	1281	45	5	4636	5	MYO9A	15	72193592	Missense_Mutation	SNP	G	TCGA-CH-5788-01A-11D-1576-08	6413519	72193592	30337800	51	2110											
SNX33	257364	broad.mit.edu	37	chr15	75941857	75941857	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gctggtgggctgggcaccaaCgggcaccctcccctcaacct	6	6	12	17	1	1	0	1	0	0	0	2	0	2	0	5	4	2	4	5	4	2	0			TCGA-CH-5788-01A-11D-1576-08	TCGA-CH-5788-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e272bea-9193-4c10-a802-f7e18b2937a3	ebc70303-3561-4cf6-a274-8c83d1d5f9bd	g.chr15:75941857C>A	ENST00000308527.5	+	1	1611	c.414C>A	c.(412-414)aaC>aaA	p.N138K	IMP3_ENST00000314852.2_5'Flank|IMP3_ENST00000565349.1_5'Flank	NM_153271.1	NP_695003.1	Q8WV41	SNX33_HUMAN	sorting nexin 33	138					cleavage furrow formation (GO:0036089)|endocytosis (GO:0006897)|endosomal transport (GO:0016197)|endosome organization (GO:0007032)|intracellular protein transport (GO:0006886)|macropinocytosis (GO:0044351)|membrane tubulation (GO:0097320)|mitotic cytokinesis (GO:0000281)|mitotic nuclear division (GO:0007067)|negative regulation of endocytosis (GO:0045806)|negative regulation of protein localization to cell surface (GO:2000009)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|positive regulation of protein localization to cell surface (GO:2000010)|protein import (GO:0017038)	cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endosome (GO:0005768)|extrinsic component of membrane (GO:0019898)|membrane (GO:0016020)	identical protein binding (GO:0042802)|phosphatidylinositol binding (GO:0035091)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)|soft_tissue(1)|urinary_tract(2)	19						TGGGCACCAACGGGCACCCTC	0.642																																						ENST00000308527.5																			0				breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)|soft_tissue(1)|urinary_tract(2)	19						c.(412-414)aaC>aaA		sorting nexin 33							63	63	63					15																	75941857		2197	4293	6490	SO:0001583	missense	257364				cell communication		phosphatidylinositol binding|protein binding	g.chr15:75941857C>A	AK091291	CCDS10283.1	15q23	2008-04-18	2008-03-25	2008-03-25	ENSG00000173548	ENSG00000173548			28468	protein-coding gene	gene with protein product			"SH3 and PX domain containing 3"	SH3PX3		16374509, 16782399, 18353773	Standard	NM_153271		Approved	MGC32065, SH3PXD3C, SNX30	uc002bau.3	Q8WV41	OTTHUMG00000142835	ENST00000308527.5:c.414C>A	15.37:g.75941857C>A	ENSP00000311427:p.Asn138Lys						p.N138K	NM_153271.1	NP_695003.1	Q8WV41	SNX33_HUMAN			1	1611	+			138					B1NM17	Missense_Mutation	SNP	ENST00000308527.5	37	c.414C>A	CCDS10283.1	.	.	.	.	.	.	.	.	.	.	C	8.580	0.882196	0.17467	.	.	ENSG00000173548	ENST00000308527	T	0.62364	0.03	4.83	-9.66	0.00534	.	0.164834	0.52532	D	0.000070	T	0.32285	0.0824	N	0.08118	0	0.39315	D	0.965146	B	0.30326	0.276	B	0.29524	0.103	T	0.37753	-0.9692	10	0.07813	T	0.8	-14.6033	19.2738	0.94021	0.0:0.2995:0.0:0.7005	.	138	Q8WV41	SNX33_HUMAN	K	138	ENSP00000311427:N138K	ENSP00000311427:N138K	N	+	3	2	SNX33	73728912	0.000000	0.05858	0.138000	0.22173	0.837000	0.47467	-2.999000	0.00653	-3.000000	0.00276	-1.847000	0.00572	AAC		0.642	SNX33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286471.1	NM_153271		4	121	1	0	0.150653	0.150653	0.156374	4	121					A	75941857	C	A	75941857	3	1	38	1	0	0	0	0	1	0	0	0	14903	535	19	5	416	5	SNX33	15	75941857	Missense_Mutation	SNP	C	TCGA-CH-5788-01A-11D-1576-08	3748265	75941857	26589535	52	2111											
FES	2242	broad.mit.edu	37	chr15	91428783	91428783	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttcgcaagacctacagcgagCagtggcagcagctgcagcag	11	5	13	12	2	0	1	0	0	0	1	1	2	0	1	1	1	7	7	1	1	2	2			TCGA-CH-5788-01A-11D-1576-08	TCGA-CH-5788-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e272bea-9193-4c10-a802-f7e18b2937a3	ebc70303-3561-4cf6-a274-8c83d1d5f9bd	g.chr15:91428783C>A	ENST00000328850.3	+	3	497	c.355C>A	c.(355-357)Cag>Aag	p.Q119K	FES_ENST00000394300.3_Intron|FES_ENST00000414248.2_Intron|FES_ENST00000394302.1_Intron|FES_ENST00000450438.2_Intron|FES_ENST00000444422.2_Missense_Mutation_p.Q119K	NM_002005.3	NP_001996.1	P07332	FES_HUMAN	FES proto-oncogene, tyrosine kinase	119	Important for interaction with membranes containing phosphoinositides.				axon guidance (GO:0007411)|cell proliferation (GO:0008283)|multicellular organismal development (GO:0007275)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of myeloid cell differentiation (GO:0045639)|positive regulation of neuron projection development (GO:0010976)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of cell adhesion (GO:0030155)|regulation of cell differentiation (GO:0045595)|regulation of cell motility (GO:2000145)|regulation of cell proliferation (GO:0042127)|regulation of cell shape (GO:0008360)|regulation of mast cell degranulation (GO:0043304)|regulation of vesicle-mediated transport (GO:0060627)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|microtubule cytoskeleton (GO:0015630)	ATP binding (GO:0005524)|immunoglobulin receptor binding (GO:0034987)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|phosphatidylinositol binding (GO:0035091)|protein tyrosine kinase activity (GO:0004713)	p.Q119K(2)		lung(2)|ovary(1)	3	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.229)			CTACAGCGAGCAGTGGCAGCA	0.597																																						ENST00000328850.3																			2	Substitution - Missense(2)	p.Q119K(2)	prostate(2)	lung(2)|ovary(1)	3						c.(355-357)Cag>Aag		feline sarcoma oncogene							20	24	23					15																	91428783		2193	4295	6488	SO:0001583	missense	2242				axon guidance|cell proliferation|peptidyl-tyrosine phosphorylation	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding	g.chr15:91428783C>A	X52192	CCDS10365.1, CCDS45349.1, CCDS45350.1, CCDS45351.1	15q26.1	2014-06-26	2014-06-26		ENSG00000182511	ENSG00000182511	2.7.10.1	"SH2 domain containing"	3657	protein-coding gene	gene with protein product	"Oncogene FES, feline sarcoma virus", "c-fes/fps protein"	190030	"feline sarcoma (Snyder-Theilen) viral (v-fes)/Fujinami avian sarcoma (PRCII) viral (v-fps) oncogene homolog", "feline sarcoma oncogene"			1870997	Standard	NM_002005		Approved	FPS	uc002bpv.3	P07332	OTTHUMG00000044456	ENST00000328850.3:c.355C>A	15.37:g.91428783C>A	ENSP00000331504:p.Gln119Lys					FES_ENST00000394300.3_Intron|FES_ENST00000414248.2_Intron|FES_ENST00000394302.1_Intron|FES_ENST00000450438.2_Intron|FES_ENST00000444422.2_Missense_Mutation_p.Q119K	p.Q119K	NM_002005.3	NP_001996.1	P07332	FES_HUMAN	Lung(145;0.229)		3	497	+	Lung NSC(78;0.0771)|all_lung(78;0.137)		119			Important for interaction with membranes containing phosphoinositides.		B2R6E6|B4DUD0|E9PC94|E9PC95|Q2VXS7|Q2VXS8|Q2VXT0|Q6GTU5	Missense_Mutation	SNP	ENST00000328850.3	37	c.355C>A	CCDS10365.1	.	.	.	.	.	.	.	.	.	.	C	34	5.402859	0.96030	.	.	ENSG00000182511	ENST00000328850;ENST00000452243;ENST00000444422	T;T;T	0.14144	2.53;2.53;2.53	5.37	5.37	0.77165	.	0.000000	0.85682	D	0.000000	T	0.34308	0.0893	L	0.55481	1.735	0.80722	D	1	D;D;D	0.71674	0.997;0.998;0.997	D;D;D	0.78314	0.98;0.991;0.98	T	0.00915	-1.1516	10	0.40728	T	0.16	-43.3538	18.7804	0.91930	0.0:1.0:0.0:0.0	.	101;119;119	B4DUD9;P07332-4;P07332	.;.;FES_HUMAN	K	119	ENSP00000331504:Q119K;ENSP00000392696:Q119K;ENSP00000400868:Q119K	ENSP00000331504:Q119K	Q	+	1	0	FES	89229787	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.457000	0.60088	2.543000	0.85770	0.650000	0.86243	CAG		0.597	FES-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313497.1	NM_002005		12	17	1	0	1.05317e-09	0.457914	1.21634e-09	12	17					A	91428783	C	A	91428783	3	1	38	1	0	0	0	0	1	0	0	0	5820	711	25	5	361	5	FES	15	91428783	Missense_Mutation	SNP	C	TCGA-CH-5788-01A-11D-1576-08	15486926	91428783	11102609	53	2112											
CREBBP	1387	broad.mit.edu	37	chr16	3778253	3778253	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaagctgtcccatctgagcCgccatctggcccatggagct	7	8	10	16	1	2	1	0	1	2	0	3	2	3	2	5	2	3	2	5	2	1	0			TCGA-CH-5788-01A-11D-1576-08	TCGA-CH-5788-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e272bea-9193-4c10-a802-f7e18b2937a3	ebc70303-3561-4cf6-a274-8c83d1d5f9bd	g.chr16:3778253C>T	ENST00000262367.5	-	31	7604	c.6795G>A	c.(6793-6795)gcG>gcA	p.A2265A	CREBBP_ENST00000382070.3_Silent_p.A2227A	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	2265					cellular lipid metabolic process (GO:0044255)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|embryonic digit morphogenesis (GO:0042733)|gene expression (GO:0010467)|germ-line stem cell maintenance (GO:0030718)|histone acetylation (GO:0016573)|homeostatic process (GO:0042592)|innate immune response (GO:0045087)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein complex assembly (GO:0006461)|regulation of smoothened signaling pathway (GO:0008589)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|response to hypoxia (GO:0001666)|rhythmic process (GO:0048511)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nuclear body (GO:0016604)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|histone acetyltransferase activity (GO:0004402)|MRF binding (GO:0043426)|p53 binding (GO:0002039)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.A2265A(2)		NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		CCATCTGAGCCGCCATCTGGC	0.672			"T, N, F, Mis, O"	"MLL, MORF, RUNXBP2"	"ALL, AML, DLBCL, B-NHL "		Rubinstein-Taybi syndrome																															ENST00000262367.5				Dom/Rec	yes		16	16p13.3	1387	"T, N, F, Mis, O"	CREB binding protein (CBP)	yes	Rubinstein-Taybi syndrome	L	"MLL, MORF, RUNXBP2"		"ALL, AML, DLBCL, B-NHL "		2	Substitution - coding silent(2)	p.A2265A(2)	prostate(2)	NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295						c.(6793-6795)gcG>gcA		CREB binding protein							21	23	22					16																	3778253		2196	4296	6492	SO:0001819	synonymous_variant	1387				cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding	g.chr16:3778253C>T	U85962	CCDS10509.1, CCDS45399.1	16p13.3	2011-07-01	2008-08-01		ENSG00000005339	ENSG00000005339		"Chromatin-modifying enzymes / K-acetyltransferases"	2348	protein-coding gene	gene with protein product		600140	"Rubinstein-Taybi syndrome"	RSTS		8413673	Standard	NM_001079846		Approved	RTS, CBP, KAT3A	uc002cvv.3	Q92793	OTTHUMG00000129431	ENST00000262367.5:c.6795G>A	16.37:g.3778253C>T						CREBBP_ENST00000382070.3_Silent_p.A2227A	p.A2265A	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)	31	7604	-		Ovarian(90;0.0266)	2265					D3DUC9|O00147|Q16376|Q4LE28	Silent	SNP	ENST00000262367.5	37	c.6795G>A	CCDS10509.1																																																																																				0.672	CREBBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251591.2	NM_004380		29	29	0	0	0	0.750413	0	29	29					T	3778253	C	T	3778253	2	4	38	1	0	0	0	0	0	0	0	1	3861	639	23	2		2	CREBBP	16	3778253	Silent	SNP	C	TCGA-CH-5788-01A-11D-1576-08		3778253	86576500	54	2113											
ELMO3	1874	broad.mit.edu	37	chr16	67234423	67234423	+	IGR	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gagcacggcgtggtgtcctgGgagactctgagcatcccctt	6	9	14	12	2	1	2	0	1	1	1	3	4	3	2	3	3	2	2	3	3	0	1			TCGA-CH-5788-01A-11D-1576-08	TCGA-CH-5788-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e272bea-9193-4c10-a802-f7e18b2937a3	ebc70303-3561-4cf6-a274-8c83d1d5f9bd	g.chr16:67234423G>A	ENST00000379378.3	+	0	2096				ELMO3_ENST00000360833.1_Nonsense_Mutation_p.W197*|ELMO3_ENST00000477898.1_Nonsense_Mutation_p.W48*|MIR328_ENST00000385213.1_RNA|ELMO3_ENST00000393997.2_Nonsense_Mutation_p.W214*|ELMO3_ENST00000571638.1_3'UTR	NM_001950.3	NP_001941.2	Q16254	E2F4_HUMAN	E2F transcription factor 4, p107/p130-binding						blood circulation (GO:0008015)|cell volume homeostasis (GO:0006884)|cilium assembly (GO:0042384)|epithelial cell development (GO:0002064)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|organ morphogenesis (GO:0009887)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell proliferation (GO:0042127)|regulation of cell size (GO:0008361)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|protein domain specific binding (GO:0019904)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)	p.W214*(1)		breast(4)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)	11		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.000697)|Epithelial(162;0.00303)|all cancers(182;0.0325)		TGGTGTCCTGGGAGACTCTGA	0.652																																						ENST00000393997.2																			1	Substitution - Nonsense(1)	p.W214*(1)	prostate(1)	cervix(2)|kidney(4)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(3)	18						c.(640-642)tgG>tgA		engulfment and cell motility 3							52	53	53					16																	67234423		2040	4173	6213	SO:0001628	intergenic_variant	79767				apoptosis|phagocytosis	cytoplasm|cytoskeleton	SH3 domain binding	g.chr16:67234423G>A	BC021050	CCDS32464.1	16q22.1	2014-05-06			ENSG00000205250	ENSG00000205250			3118	protein-coding gene	gene with protein product		600659				7958924, 7892279	Standard	NM_001950		Approved	E2F-4	uc002erz.3	Q16254	OTTHUMG00000172975		16.37:g.67234423G>A						ELMO3_ENST00000571638.1_3'UTR|ELMO3_ENST00000360833.1_Nonsense_Mutation_p.W197*|ELMO3_ENST00000477898.1_Nonsense_Mutation_p.W48*	p.W214*	NM_024712.3	NP_078988.2	Q96BJ8	ELMO3_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00067)|Epithelial(162;0.00442)|all cancers(182;0.0417)	6	699	+		Ovarian(137;0.0563)	161					A6NGR8|B5BU56|Q12991|Q15328	Nonsense_Mutation	SNP	ENST00000379378.3	37	c.642G>A	CCDS32464.1	.	.	.	.	.	.	.	.	.	.	G	35	5.559608	0.96514	.	.	ENSG00000102890	ENST00000360833;ENST00000393997	.	.	.	4.62	3.65	0.41850	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-15.4195	12.939	0.58331	0.0:0.0:0.8368:0.1632	.	.	.	.	X	197;214	.	ENSP00000354077:W197X	W	+	3	0	ELMO3	65791924	1.000000	0.71417	1.000000	0.80357	0.689000	0.40095	6.247000	0.72411	1.160000	0.42584	0.462000	0.41574	TGG		0.652	E2F4-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421565.1	NM_001950		3	68	0	0	0	0.115264	0	3	68					A	67234423	G	A	67234423	1	1	38	0	1	0	0	0	0	0	0	0	5067	1241	43	3		3	ELMO3	16	67234423	IGR	SNP	G	TCGA-CH-5788-01A-11D-1576-08	63456170	67234423	23120330	55	2114											
SLC9A5	6553	broad.mit.edu	37	chr16	67305047	67305047	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	atgggccacaaggaccacacCcatctcagcccaggcaccgc	11	3	9	18	1	1	0	1	0	1	0	2	1	1	1	5	3	1	1	5	3	1	0			TCGA-CH-5788-01A-11D-1576-08	TCGA-CH-5788-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e272bea-9193-4c10-a802-f7e18b2937a3	ebc70303-3561-4cf6-a274-8c83d1d5f9bd	g.chr16:67305047C>T	ENST00000299798.11	+	16	2690	c.2625C>T	c.(2623-2625)acC>acT	p.T875T		NM_004594.2	NP_004585.1	Q14940	SL9A5_HUMAN	solute carrier family 9, subfamily A (NHE5, cation proton antiporter 5), member 5	875					ion transport (GO:0006811)|regulation of pH (GO:0006885)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium:proton antiporter activity (GO:0015385)	p.T875T(1)		breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	27		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)		AGGACCACACCCATCTCAGCC	0.662																																						ENST00000299798.11																			1	Substitution - coding silent(1)	p.T875T(1)	prostate(1)	breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	27						c.(2623-2625)acC>acT		solute carrier family 9, subfamily A (NHE5, cation proton antiporter 5), member 5							23	25	24					16																	67305047		2097	4212	6309	SO:0001819	synonymous_variant	6553				regulation of pH	integral to membrane|plasma membrane	sodium:hydrogen antiporter activity	g.chr16:67305047C>T		CCDS42178.1	16q22.1	2013-05-22	2012-03-22		ENSG00000135740	ENSG00000135740		"Solute carriers"	11078	protein-coding gene	gene with protein product		600477	"solute carrier family 9 (sodium/hydrogen exchanger), isoform 5", "solute carrier family 9 (sodium/hydrogen exchanger), member 5"			7759094, 9933642	Standard	NM_004594		Approved	NHE5	uc002esm.3	Q14940	OTTHUMG00000172935	ENST00000299798.11:c.2625C>T	16.37:g.67305047C>T							p.T875T	NM_004594.2	NP_004585.1	Q14940	SL9A5_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)	16	2690	+		Ovarian(137;0.0563)	875					A5PKY7|Q9Y626	Silent	SNP	ENST00000299798.11	37	c.2625C>T	CCDS42178.1	.	.	.	.	.	.	.	.	.	.	C	6.470	0.454973	0.12283	.	.	ENSG00000135740	ENST00000360183	.	.	.	4.76	-9.52	0.00578	.	.	.	.	.	T	0.35278	0.0926	.	.	.	0.09310	N	0.999998	.	.	.	.	.	.	T	0.53493	-0.8431	5	0.87932	D	0	.	7.7909	0.29119	0.0:0.2445:0.2953:0.4602	.	.	.	.	L	387	.	ENSP00000353311:P387L	P	+	2	0	SLC9A5	65862548	0.000000	0.05858	0.018000	0.16275	0.986000	0.74619	-2.138000	0.01303	-1.855000	0.01162	0.549000	0.68633	CCC		0.662	SLC9A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421386.1			4	31	0	0	0	0.150653	0	4	31					T	67305047	C	T	67305047	2	4	38	1	0	0	0	0	0	0	0	1	14717	610	22	3		3	SLC9A5	16	67305047	Silent	SNP	C	TCGA-CH-5788-01A-11D-1576-08	70624	67305047	23049706	56	2115											
DDX19B	11269	broad.mit.edu	37	chr16	70359583	70359583	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gctagcttatgctgttcgagGcaataaatgtgagtatgtga	11	13	12	5	1	0	2	0	2	0	0	1	3	0	2	0	1	2	6	0	1	6	5			TCGA-CH-5788-01A-11D-1576-08	TCGA-CH-5788-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e272bea-9193-4c10-a802-f7e18b2937a3	ebc70303-3561-4cf6-a274-8c83d1d5f9bd	g.chr16:70359583G>A	ENST00000288071.6	+	7	844	c.599G>A	c.(598-600)gGc>gAc	p.G200D	DDX19B_ENST00000563392.1_Missense_Mutation_p.G91D|RP11-529K1.3_ENST00000567706.1_Missense_Mutation_p.G200D|DDX19B_ENST00000568625.1_Missense_Mutation_p.G91D|DDX19B_ENST00000451014.3_Missense_Mutation_p.G174D|RP11-529K1.2_ENST00000562077.1_RNA|DDX19B_ENST00000563206.1_Missense_Mutation_p.G205D|DDX19B_ENST00000355992.3_Missense_Mutation_p.G169D|DDX19B_ENST00000393657.2_Missense_Mutation_p.G91D	NM_007242.5	NP_009173.1	Q9UMR2	DD19B_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 19B	200	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.|N-terminal lobe.				mRNA export from nucleus (GO:0006406)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|RNA binding (GO:0003723)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|prostate(1)	9		Ovarian(137;0.0694)				GCTGTTCGAGGCAATAAATGT	0.363																																					Esophageal Squamous(26;382 757 1343 9728 15939)	ENST00000288071.6																			0				cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|prostate(1)	9						c.(598-600)gGc>gAc		DEAD (Asp-Glu-Ala-Asp) box polypeptide 19B							170	162	165					16																	70359583		2198	4300	6498	SO:0001583	missense	11269				mRNA export from nucleus|protein transport|transmembrane transport	cytoplasm|nuclear membrane|nuclear pore	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding	g.chr16:70359583G>A	AJ237946	CCDS10888.1, CCDS32475.1, CCDS42187.1, CCDS58478.1	16q22.3	2012-02-23	2012-02-23	2005-07-13	ENSG00000157349	ENSG00000157349		"DEAD-boxes"	2742	protein-coding gene	gene with protein product		605812	"DEAD (Asp-Glu-Ala-As) box polypeptide 19", "DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 19 (Dbp5, yeast, homolog)"	DDX19		10428971	Standard	NM_007242		Approved	DBP5	uc002eyo.4	Q9UMR2	OTTHUMG00000137577	ENST00000288071.6:c.599G>A	16.37:g.70359583G>A	ENSP00000288071:p.Gly200Asp					DDX19B_ENST00000563392.1_Missense_Mutation_p.G91D|DDX19B_ENST00000563206.1_Missense_Mutation_p.G205D|DDX19B_ENST00000393657.2_Missense_Mutation_p.G91D|DDX19B_ENST00000355992.3_Missense_Mutation_p.G169D|DDX19B_ENST00000568625.1_Missense_Mutation_p.G91D|RP11-529K1.2_ENST00000562077.1_RNA|RP11-529K1.3_ENST00000567706.1_Missense_Mutation_p.G200D|DDX19B_ENST00000451014.3_Missense_Mutation_p.G174D	p.G200D	NM_007242.5	NP_009173.1	Q9UMR2	DD19B_HUMAN			7	844	+		Ovarian(137;0.0694)	200			Helicase ATP-binding.		B3KNE9|B4DXS6|E7EMK4|Q6FIB7|Q6IAE0|Q96KE7|Q9H0U0	Missense_Mutation	SNP	ENST00000288071.6	37	c.599G>A	CCDS10888.1	.	.	.	.	.	.	.	.	.	.	G	27.5	4.837394	0.91117	.	.	ENSG00000157349	ENST00000451014;ENST00000355992;ENST00000393657;ENST00000288071	T;T;T;T	0.16897	2.31;2.31;2.31;2.31	5.49	5.49	0.81192	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.50769	0.1635	M	0.90019	3.08	0.80722	D	1	P;D;D	0.89917	0.476;1.0;1.0	P;D;D	0.97110	0.534;1.0;0.999	T	0.57106	-0.7868	10	0.62326	D	0.03	-8.4165	16.9239	0.86170	0.0:0.0:1.0:0.0	.	174;169;200	E7EMK4;Q9UMR2-2;Q9UMR2	.;.;DD19B_HUMAN	D	174;169;91;200	ENSP00000392639:G174D;ENSP00000348271:G169D;ENSP00000377267:G91D;ENSP00000288071:G200D	ENSP00000288071:G200D	G	+	2	0	DDX19B	68917084	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.307000	0.78920	2.865000	0.98341	0.655000	0.94253	GGC		0.363	DDX19B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268965.3	NM_007242		4	182	0	0	0	0.150653	0	4	182					A	70359583	G	A	70359583	3	1	38	1	0	0	0	0	1	0	0	0	4347	1203	42	3	625	3	DDX19B	16	70359583	Missense_Mutation	SNP	G	TCGA-CH-5788-01A-11D-1576-08	3054536	70359583	19995170	57	2116											
DHRS13	147015	broad.mit.edu	37	chr17	27229944	27229944	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gcccagcagcaaccccgcgcCcagcagcagcgcctccatgc	8	2	10	21	3	0	0	0	0	0	0	1	0	1	0	6	0	7	4	6	0	1	0			TCGA-CH-5788-01A-11D-1576-08	TCGA-CH-5788-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e272bea-9193-4c10-a802-f7e18b2937a3	ebc70303-3561-4cf6-a274-8c83d1d5f9bd	g.chr17:27229944C>T	ENST00000378895.4	-	1	145	c.19G>A	c.(19-21)Ggc>Agc	p.G7S	DHRS13_ENST00000426464.2_Missense_Mutation_p.G7S|DHRS13_ENST00000394901.3_5'UTR	NM_144683.3	NP_653284.2	Q6UX07	DHR13_HUMAN	dehydrogenase/reductase (SDR family) member 13	7						extracellular region (GO:0005576)|membrane (GO:0016020)	oxidoreductase activity (GO:0016491)	p.G7S(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	9	all_cancers(5;2.12e-15)|all_epithelial(6;3.44e-19)|Lung NSC(42;0.01)		Epithelial(11;1.59e-06)|all cancers(11;9.27e-06)|BRCA - Breast invasive adenocarcinoma(11;5.78e-05)|OV - Ovarian serous cystadenocarcinoma(11;0.0602)			AACCCCGCGCCCAGCAGCAGC	0.756																																						ENST00000378895.4																			1	Substitution - Missense(1)	p.G7S(1)	prostate(1)	breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	9						c.(19-21)Ggc>Agc		dehydrogenase/reductase (SDR family) member 13							6	8	8					17																	27229944		1801	3922	5723	SO:0001583	missense	147015					extracellular region	binding|oxidoreductase activity	g.chr17:27229944C>T	BC015582	CCDS11246.2	17q11.2	2011-09-14			ENSG00000167536	ENSG00000167536	1.1.-.-	"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"	28326	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 7C, member 5"					12975309, 19027726	Standard	NM_144683		Approved	MGC23280, SDR7C5	uc002hde.4	Q6UX07	OTTHUMG00000132678	ENST00000378895.4:c.19G>A	17.37:g.27229944C>T	ENSP00000368173:p.Gly7Ser					DHRS13_ENST00000426464.2_Missense_Mutation_p.G7S|DHRS13_ENST00000394901.3_5'UTR	p.G7S	NM_144683.3	NP_653284.2	Q6UX07	DHR13_HUMAN	Epithelial(11;1.59e-06)|all cancers(11;9.27e-06)|BRCA - Breast invasive adenocarcinoma(11;5.78e-05)|OV - Ovarian serous cystadenocarcinoma(11;0.0602)		1	145	-	all_cancers(5;2.12e-15)|all_epithelial(6;3.44e-19)|Lung NSC(42;0.01)		7					Q96BH7	Missense_Mutation	SNP	ENST00000378895.4	37	c.19G>A	CCDS11246.2	.	.	.	.	.	.	.	.	.	.	c	16.14	3.038605	0.55003	.	.	ENSG00000167536	ENST00000378895;ENST00000426464	T;D	0.82344	-1.38;-1.6	4.65	2.64	0.31445	.	2.055150	0.01746	N	0.029659	T	0.68851	0.3046	N	0.08118	0	0.22719	N	0.998814	B;B	0.24721	0.11;0.067	B;B	0.23419	0.046;0.033	T	0.58002	-0.7713	10	0.11794	T	0.64	.	9.1255	0.36812	0.0:0.8179:0.0:0.1821	.	7;7	B4DJC5;Q6UX07	.;DHR13_HUMAN	S	7	ENSP00000368173:G7S;ENSP00000412826:G7S	ENSP00000368173:G7S	G	-	1	0	DHRS13	24254070	0.999000	0.42202	1.000000	0.80357	0.893000	0.52053	2.206000	0.42779	0.585000	0.29608	0.486000	0.48141	GGC		0.756	DHRS13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255952.1	NM_144683		5	12	0	0	0	0.217242	0	5	12					T	27229944	C	T	27229944	3	4	38	1	0	0	0	0	1	0	0	0	4489	623	22	3	1134	3	DHRS13	17	27229944	Missense_Mutation	SNP	C	TCGA-CH-5788-01A-11D-1576-08		27229944	53965266	58	2117											
SPOP	8405	broad.mit.edu	37	chr17	47696432	47696432	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgaatttcttgaatccccAgtctttgccttgcacaaacc	10	13	6	12	0	2	2	0	2	2	0	3	3	3	2	4	0	3	1	4	0	3	4			TCGA-CH-5788-01A-11D-1576-08	TCGA-CH-5788-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e272bea-9193-4c10-a802-f7e18b2937a3	ebc70303-3561-4cf6-a274-8c83d1d5f9bd	g.chr17:47696432A>C	ENST00000393328.2	-	6	756	c.391T>G	c.(391-393)Tgg>Ggg	p.W131G	SPOP_ENST00000503676.1_Missense_Mutation_p.W131G|SPOP_ENST00000393331.3_Missense_Mutation_p.W131G|SPOP_ENST00000504102.1_Missense_Mutation_p.W131G|SPOP_ENST00000513080.1_5'Flank|SPOP_ENST00000347630.2_Missense_Mutation_p.W131G	NM_003563.3	NP_003554.1	O43791	SPOP_HUMAN	speckle-type POZ protein	131	Important for binding substrate proteins.|MATH. {ECO:0000255|PROSITE- ProRule:PRU00129}.|Required for nuclear localization.				glucose homeostasis (GO:0042593)|positive regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902237)|positive regulation of type B pancreatic cell apoptotic process (GO:2000676)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	Cul3-RING ubiquitin ligase complex (GO:0031463)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	ubiquitin protein ligase binding (GO:0031625)	p.W131G(2)|p.W131R(1)		endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						TTGAATCCCCAGTCTTTGCCT	0.458										Prostate(2;0.17)																												ENST00000393331.3																			3	Substitution - Missense(3)	p.W131G(2)|p.W131R(1)	prostate(3)	endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						c.(391-393)Tgg>Ggg		speckle-type POZ protein							121	124	123					17																	47696432		2203	4300	6503	SO:0001583	missense	8405				mRNA processing	nucleus	protein binding	g.chr17:47696432A>C	AJ000644	CCDS11551.1	17q21.33	2013-01-09			ENSG00000121067	ENSG00000121067		"BTB/POZ domain containing"	11254	protein-coding gene	gene with protein product		602650				9414087	Standard	NM_001007227		Approved	TEF2, BTBD32	uc002ipg.3	O43791	OTTHUMG00000161496	ENST00000393328.2:c.391T>G	17.37:g.47696432A>C	ENSP00000377001:p.Trp131Gly	Prostate(2;0.17)				SPOP_ENST00000393328.2_Missense_Mutation_p.W131G|SPOP_ENST00000347630.2_Missense_Mutation_p.W131G|SPOP_ENST00000503676.1_Missense_Mutation_p.W131G|SPOP_ENST00000504102.1_Missense_Mutation_p.W131G	p.W131G	NM_001007226.1|NM_001007227.1	NP_001007227.1|NP_001007228.1	O43791	SPOP_HUMAN			7	861	-			131			MATH.|Required for nuclear localization.		B2R6S3|D3DTW7|Q53HJ1	Missense_Mutation	SNP	ENST00000393328.2	37	c.391T>G	CCDS11551.1	.	.	.	.	.	.	.	.	.	.	A	20.8	4.058244	0.76074	.	.	ENSG00000121067	ENST00000393328;ENST00000393331;ENST00000347630;ENST00000504102;ENST00000503536;ENST00000503676;ENST00000513872;ENST00000509079;ENST00000505581;ENST00000507970;ENST00000514121	T;T;T;T;T;T;T;T;T	0.70045	-0.45;-0.45;-0.45;-0.45;-0.45;-0.45;-0.45;-0.45;-0.45	5.41	5.41	0.78517	TRAF-type (1);TRAF-like (1);MATH (3);	0.000000	0.85682	D	0.000000	T	0.81851	0.4910	H	0.95402	3.665	0.80722	D	1	P	0.43024	0.798	P	0.47786	0.557	D	0.87031	0.2135	10	0.72032	D	0.01	0.1404	15.258	0.73599	1.0:0.0:0.0:0.0	.	131	O43791	SPOP_HUMAN	G	131;131;131;131;15;131;84;131;131;131;131	ENSP00000377001:W131G;ENSP00000377004:W131G;ENSP00000240327:W131G;ENSP00000425905:W131G;ENSP00000420908:W131G;ENSP00000426986:W131G;ENSP00000420960:W131G;ENSP00000426262:W131G;ENSP00000424119:W131G	ENSP00000240327:W131G	W	-	1	0	SPOP	45051431	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.056000	0.93881	2.261000	0.74972	0.460000	0.39030	TGG		0.458	SPOP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365154.2	NM_003563		139	222	0	0	0	0.870114	0	139	222					C	47696432	A	C	47696432	3	2	38	1	0	0	0	0	1	0	0	0	15083	188	7	5	757	5	SPOP	17	47696432	Missense_Mutation	SNP	A	TCGA-CH-5788-01A-11D-1576-08	20466488	47696432	33498778	59	2118											
SFRS1	6426	broad.mit.edu	37	chr17	56083187	56083187	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagatctaaacttagtgttaTccagttttcgaactgcatag	12	14	8	7	1	1	1	0	0	1	1	3	3	2	1	1	0	3	3	1	0	6	6			TCGA-CH-5788-01A-11D-1576-08	TCGA-CH-5788-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e272bea-9193-4c10-a802-f7e18b2937a3	ebc70303-3561-4cf6-a274-8c83d1d5f9bd	g.chr17:56083187T>C	ENST00000258962.4	-	3	735	c.527A>G	c.(526-528)gAt>gGt	p.D176G	RP11-159D12.5_ENST00000578794.1_5'Flank|SRSF1_ENST00000585096.1_Intron|SRSF1_ENST00000581497.1_5'Flank|SRSF1_ENST00000584773.1_Missense_Mutation_p.D176G|SRSF1_ENST00000582730.2_Missense_Mutation_p.D176G	NM_006924.4	NP_008855.1	Q07955	SRSF1_HUMAN	serine/arginine-rich splicing factor 1	176	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				cardiac muscle contraction (GO:0060048)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|mRNA 3'-end processing (GO:0031124)|mRNA 5'-splice site recognition (GO:0000395)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|mRNA splice site selection (GO:0006376)|mRNA splicing, via spliceosome (GO:0000398)|regulation of mRNA splicing, via spliceosome (GO:0048024)|regulation of mRNA stability (GO:0043488)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translation (GO:0006417)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.D176G(1)		breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						CTTAGTGTTATCCAGTTTTCG	0.403																																						ENST00000582730.2																			1	Substitution - Missense(1)	p.D176G(1)	prostate(1)	breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						c.(526-528)gAt>gGt		serine/arginine-rich splicing factor 1							150	126	134					17																	56083187		2203	4300	6503	SO:0001583	missense	6426				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA 5'-splice site recognition|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytoplasm|nuclear speck	nucleotide binding|RNA binding	g.chr17:56083187T>C		CCDS11600.1, CCDS58580.1	17q22	2013-02-12	2010-06-22	2010-06-22	ENSG00000136450	ENSG00000136450		"Serine/arginine-rich splicing factors", "RNA binding motif (RRM) containing"	10780	protein-coding gene	gene with protein product	"splicing factor 2", "pre-mRNA-splicing factor SF2, P33 subunit", "alternate splicing factor", "SR splicing factor 1"	600812	"splicing factor, arginine/serine-rich 1"	SFRS1		8530103, 20516191	Standard	NM_006924		Approved	ASF, SF2, SRp30a, SF2p33, MGC5228	uc002ivi.3	Q07955		ENST00000258962.4:c.527A>G	17.37:g.56083187T>C	ENSP00000258962:p.Asp176Gly					SRSF1_ENST00000258962.4_Missense_Mutation_p.D176G|SRSF1_ENST00000585096.1_Intron|SRSF1_ENST00000584773.1_Missense_Mutation_p.D176G	p.D176G	NM_001078166.1	NP_001071634.1	Q07955	SRSF1_HUMAN			3	650	-			176			RRM 2.		B2R6Z7|D3DTZ3|Q13809	Missense_Mutation	SNP	ENST00000258962.4	37	c.527A>G	CCDS11600.1	.	.	.	.	.	.	.	.	.	.	T	14.45	2.540361	0.45176	.	.	ENSG00000136450	ENST00000258962	T	0.18657	2.2	5.65	5.65	0.86999	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	T	0.59074	0.2167	H	0.94771	3.58	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.81914	0.994;0.995	T	0.71902	-0.4452	10	0.87932	D	0	.	16.1864	0.81955	0.0:0.0:0.0:1.0	.	208;176	Q59FA2;Q07955	.;SRSF1_HUMAN	G	176	ENSP00000258962:D176G	ENSP00000258962:D176G	D	-	2	0	SRSF1	53438186	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.619000	0.83057	2.281000	0.76405	0.528000	0.53228	GAT		0.403	SRSF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443335.1	NM_006924		85	117	0	0	0	0.870114	0	85	117					C	56083187	T	C	56083187	3	2	38	1	0	0	0	0	1	0	0	0	14165	1435	50	4	281	4	SFRS1	17	56083187	Missense_Mutation	SNP	T	TCGA-CH-5788-01A-11D-1576-08	8386755	56083187	25112023	60	2119											
CYP4F3	4051	broad.mit.edu	37	chr19	15756624	15756624	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggggccctggcacgcaatCgtccgcatcttccaccccac	6	7	10	18	3	1	0	0	0	1	0	4	0	3	0	5	3	0	3	5	3	1	1	rs199619994		TCGA-CH-5788-01A-11D-1576-08	TCGA-CH-5788-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e272bea-9193-4c10-a802-f7e18b2937a3	ebc70303-3561-4cf6-a274-8c83d1d5f9bd	g.chr19:15756624C>A	ENST00000221307.8	+	3	341	c.294C>A	c.(292-294)atC>atA	p.I98I	CYP4F3_ENST00000586182.2_Intron|CYP4F3_ENST00000591058.1_Intron|CYP4F3_ENST00000585846.1_Intron	NM_000896.2	NP_000887.2	Q08477	CP4F3_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 3	98					arachidonic acid metabolic process (GO:0019369)|icosanoid metabolic process (GO:0006690)|leukotriene metabolic process (GO:0006691)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	alpha-tocopherol omega-hydroxylase activity (GO:0052871)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|leukotriene-B4 20-monooxygenase activity (GO:0050051)|monooxygenase activity (GO:0004497)	p.I98I(1)		endometrium(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|stomach(1)	34						GGCACGCAATCGTCCGCATCT	0.582																																						ENST00000221307.7																			1	Substitution - coding silent(1)	p.I98I(1)	prostate(1)	endometrium(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|stomach(1)	34						c.(292-294)atC>atA		cytochrome P450, family 4, subfamily F, polypeptide 3							122	104	110					19																	15756624		2203	4300	6503	SO:0001819	synonymous_variant	4051				leukotriene metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding	g.chr19:15756624C>A	AB002454	CCDS12332.1, CCDS59362.1	19p13.12	2013-02-21	2003-01-14		ENSG00000186529	ENSG00000186529		"Cytochrome P450s"	2646	protein-coding gene	gene with protein product		601270	"cytochrome P450, subfamily IVF, polypeptide 3 (leukotriene B4 omega hydroxylase)"	LTB4H		8486631, 9539102	Standard	NM_000896		Approved	CYP4F	uc010xol.2	Q08477	OTTHUMG00000182374	ENST00000221307.8:c.294C>A	19.37:g.15756624C>A						CYP4F3_ENST00000585846.1_Intron|CYP4F3_ENST00000591058.1_Intron|CYP4F3_ENST00000586182.1_Intron	p.I98I	NM_000896.2	NP_000887.2	Q08477	CP4F3_HUMAN			3	342	+			98					B7Z8Z3|O60634|Q5U740	Silent	SNP	ENST00000221307.8	37	c.294C>A	CCDS12332.1																																																																																				0.582	CYP4F3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460819.3	NM_000896		48	75	1	0	3.05275e-18	0.864702	3.68125e-18	48	75					A	15756624	C	A	15756624	2	1	38	1	0	0	0	0	0	0	0	1	4190	874	31	5		5	CYP4F3	19	15756624	Silent	SNP	C	TCGA-CH-5788-01A-11D-1576-08		15756624	43372359	61	2120											
OR10H3	26532	broad.mit.edu	37	chr19	15852413	15852413	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgtgtgccctctccatctctGagattctgttcactgttgcc	4	16	8	13	0	4	1	1	1	3	1	6	2	4	1	3	0	2	2	3	0	0	3			TCGA-CH-5788-01A-11D-1576-08	TCGA-CH-5788-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e272bea-9193-4c10-a802-f7e18b2937a3	ebc70303-3561-4cf6-a274-8c83d1d5f9bd	g.chr19:15852413G>A	ENST00000305892.1	+	1	211	c.211G>A	c.(211-213)Gag>Aag	p.E71K		NM_013938.1	NP_039226.1	O60404	O10H3_HUMAN	olfactory receptor, family 10, subfamily H, member 3	71						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.E71K(1)		cervix(2)|endometrium(1)|kidney(2)|large_intestine(1)|liver(1)|lung(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17						CTCCATCTCTGAGATTCTGTT	0.498																																						ENST00000305892.1																			1	Substitution - Missense(1)	p.E71K(1)	prostate(1)	cervix(2)|endometrium(1)|kidney(2)|large_intestine(1)|liver(1)|lung(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17						c.(211-213)Gag>Aag		olfactory receptor, family 10, subfamily H, member 3							471	412	432					19																	15852413		2203	4300	6503	SO:0001583	missense	26532				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr19:15852413G>A		CCDS12334.1	19p13.1	2012-08-09				ENSG00000171936		"GPCR / Class A : Olfactory receptors"	8174	protein-coding gene	gene with protein product							Standard	NM_013938		Approved		uc010xoq.2	O60404		ENST00000305892.1:c.211G>A	19.37:g.15852413G>A	ENSP00000307130:p.Glu71Lys						p.E71K	NM_013938.1	NP_039226.1	O60404	O10H3_HUMAN			1	211	+			71					Q2HIZ3|Q6IFQ0	Missense_Mutation	SNP	ENST00000305892.1	37	c.211G>A	CCDS12334.1	.	.	.	.	.	.	.	.	.	.	.	18.98	3.736997	0.69304	.	.	ENSG00000171936	ENST00000305892	T	0.38240	1.15	2.35	2.35	0.29111	GPCR, rhodopsin-like superfamily (1);	0.000000	0.41001	U	0.000965	T	0.56992	0.2023	M	0.90309	3.105	0.26133	N	0.980381	P	0.45044	0.849	P	0.54401	0.751	T	0.54022	-0.8355	10	0.87932	D	0	.	10.3508	0.43934	0.0:0.0:1.0:0.0	.	71	O60404	O10H3_HUMAN	K	71	ENSP00000307130:E71K	ENSP00000307130:E71K	E	+	1	0	OR10H3	15713413	1.000000	0.71417	0.862000	0.33874	0.603000	0.37013	8.410000	0.90225	1.320000	0.45209	0.185000	0.17295	GAG		0.498	OR10H3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460918.1			21	764	0	0	0	0.575678	0	21	764					A	15852413	G	A	15852413	3	1	38	1	0	0	0	0	1	0	0	0	10907	1291	45	3	213	3	OR10H3	19	15852413	Missense_Mutation	SNP	G	TCGA-CH-5788-01A-11D-1576-08	95789	15852413	43276570	62	2121											
FCGBP	8857	broad.mit.edu	37	chr19	40420067	40420067	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	agtcataagtgacagtcaggCcaaagtccgtgcgcacgacg	12	6	12	11	4	2	1	2	1	0	0	3	2	3	1	2	1	1	1	2	1	2	1			TCGA-CH-5788-01A-11D-1576-08	TCGA-CH-5788-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e272bea-9193-4c10-a802-f7e18b2937a3	ebc70303-3561-4cf6-a274-8c83d1d5f9bd	g.chr19:40420067C>T	ENST00000221347.6	-	6	2934	c.2927G>A	c.(2926-2928)gGc>gAc	p.G976D		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	976	VWFD 2. {ECO:0000255|PROSITE- ProRule:PRU00580}.					extracellular vesicular exosome (GO:0070062)		p.G976D(1)		NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			GACAGTCAGGCCAAAGTCCGT	0.592																																						ENST00000221347.6																			1	Substitution - Missense(1)	p.G976D(1)	prostate(1)	NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165						c.(2926-2928)gGc>gAc		Fc fragment of IgG binding protein							66	61	63					19																	40420067		2203	4300	6503	SO:0001583	missense	8857					extracellular region	protein binding	g.chr19:40420067C>T	D84239		19q13.2	2013-09-20			ENSG00000090920	ENSG00000275395			13572	protein-coding gene	gene with protein product	"IgG Fc binding protein", "Human Fc gamma BP"					9182547	Standard	NM_003890		Approved	FC(GAMMA)BP	uc002omp.4	Q9Y6R7	OTTHUMG00000182580	ENST00000221347.6:c.2927G>A	19.37:g.40420067C>T	ENSP00000221347:p.Gly976Asp						p.G976D	NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)		6	2934	-	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		976			VWFD 2.		O95784	Missense_Mutation	SNP	ENST00000221347.6	37	c.2927G>A	CCDS12546.1	.	.	.	.	.	.	.	.	.	.	C	13.22	2.173205	0.38413	.	.	ENSG00000090920	ENST00000221347	T	0.61040	0.14	4.84	3.81	0.43845	von Willebrand factor, type D domain (3);	0.075483	0.50627	N	0.000103	T	0.74921	0.3780	M	0.79805	2.47	0.45403	D	0.998382	D	0.89917	1.0	D	0.91635	0.999	T	0.77245	-0.2659	10	0.52906	T	0.07	.	12.2964	0.54849	0.0:0.9163:0.0:0.0837	.	976	Q9Y6R7	FCGBP_HUMAN	D	976	ENSP00000221347:G976D	ENSP00000221347:G976D	G	-	2	0	FCGBP	45111907	1.000000	0.71417	1.000000	0.80357	0.007000	0.05969	7.514000	0.81750	1.277000	0.44412	-0.291000	0.09656	GGC		0.592	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462507.1	NM_003890		37	60	0	0	0	0.819951	0	37	60					T	40420067	C	T	40420067	3	4	38	1	0	0	0	0	1	0	0	0	5778	739	26	3	13414	3	FCGBP	19	40420067	Missense_Mutation	SNP	C	TCGA-CH-5788-01A-11D-1576-08	24567654	40420067	18708916	63	2122											
ERCC2	2068	broad.mit.edu	37	chr19	45858059	45858059	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gaaggccacgatgccatcagGgaccacagcggacatctcca	12	4	11	14	2	2	0	1	0	1	0	3	4	2	2	4	3	2	0	4	3	1	0			TCGA-CH-5788-01A-11D-1576-08	TCGA-CH-5788-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e272bea-9193-4c10-a802-f7e18b2937a3	ebc70303-3561-4cf6-a274-8c83d1d5f9bd	g.chr19:45858059G>A	ENST00000391945.4	-	17	1671	c.1594C>T	c.(1594-1596)Cct>Tct	p.P532S	ERCC2_ENST00000391944.3_Missense_Mutation_p.P454S	NM_000400.3	NP_000391.1	P18074	ERCC2_HUMAN	excision repair cross-complementation group 2	532	Mediates interaction with MMS19.				7-methylguanosine mRNA capping (GO:0006370)|aging (GO:0007568)|apoptotic process (GO:0006915)|ATP catabolic process (GO:0006200)|bone mineralization (GO:0030282)|cell proliferation (GO:0008283)|central nervous system myelin formation (GO:0032289)|chromosome segregation (GO:0007059)|DNA duplex unwinding (GO:0032508)|DNA repair (GO:0006281)|embryonic cleavage (GO:0040016)|erythrocyte maturation (GO:0043249)|extracellular matrix organization (GO:0030198)|gene expression (GO:0010467)|hair cell differentiation (GO:0035315)|hair follicle maturation (GO:0048820)|hematopoietic stem cell differentiation (GO:0060218)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|nucleotide-excision repair, DNA incision (GO:0033683)|positive regulation of DNA binding (GO:0043388)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of viral transcription (GO:0050434)|post-embryonic development (GO:0009791)|protein phosphorylation (GO:0006468)|regulation of mitotic cell cycle phase transition (GO:1901990)|response to hypoxia (GO:0001666)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)|spinal cord development (GO:0021510)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|UV protection (GO:0009650)|viral process (GO:0016032)	cytoplasm (GO:0005737)|holo TFIIH complex (GO:0005675)|MMXD complex (GO:0071817)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	4 iron, 4 sulfur cluster binding (GO:0051539)|5'-3' DNA helicase activity (GO:0043139)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)	p.P532S(1)		large_intestine(4)|lung(2)|ovary(1)|pancreas(1)|stomach(1)	9		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0226)		ATGCCATCAGGGACCACAGCG	0.627			"Mis, N, F, S"			"skin basal cell, skin squamous cell, melanoma"		Nucleotide excision repair (NER)	Xeroderma Pigmentosum																													ENST00000391945.4			yes	Rec		Xeroderma pigmentosum (D)	19	19q13.2-q13.3	2068	"Mis, N, F, S"	"excision repair cross-complementing rodent repair deficiency, complementation group 2 (xeroderma pigmentosum D)"			E		"skin basal cell, skin squamous cell, melanoma"			1	Substitution - Missense(1)	p.P532S(1)	prostate(1)	large_intestine(4)|lung(2)|ovary(1)|pancreas(1)|stomach(1)	9						c.(1594-1596)Cct>Tct	Nucleotide excision repair (NER)	excision repair cross-complementing rodent repair deficiency, complementation group 2							180	148	159					19																	45858059		2203	4300	6503	SO:0001583	missense	2068	Xeroderma Pigmentosum	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV	cell cycle checkpoint|chromosome segregation|hair cell differentiation|induction of apoptosis|interspecies interaction between organisms|mRNA capping|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein phosphorylation|response to oxidative stress|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|UV protection|viral reproduction	cytoplasm|holo TFIIH complex|MMXD complex	5'-3' DNA helicase activity|ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding|protein C-terminus binding|protein N-terminus binding	g.chr19:45858059G>A		CCDS33049.1, CCDS46112.1	19q13.3	2014-09-17	2014-03-07		ENSG00000104884	ENSG00000104884	3.6.4.12	"General transcription factor IIH complex subunits"	3434	protein-coding gene	gene with protein product	"excision repair cross-complementing rodent repair deficiency, complementation group 2 protein", "TFIIH basal transcription factor complex helicase XPB subunit"	126340	"xeroderma pigmentosum complementary group D", "excision repair cross-complementing rodent repair deficiency, complementation group 2"	XPD		8413672, 2184031	Standard	NM_000400		Approved	MAG, EM9, MGC102762, MGC126218, MGC126219, TFIIH	uc002pbj.2	P18074	OTTHUMG00000048190	ENST00000391945.4:c.1594C>T	19.37:g.45858059G>A	ENSP00000375809:p.Pro532Ser					ERCC2_ENST00000391944.3_Missense_Mutation_p.P454S	p.P532S	NM_000400.3	NP_000391.1	P18074	ERCC2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0226)	17	1671	-		Ovarian(192;0.0728)|all_neural(266;0.112)	532			Mediates interaction with MMS19.		Q2TB78|Q2YDY2|Q7KZU6|Q8N721	Missense_Mutation	SNP	ENST00000391945.4	37	c.1594C>T	CCDS33049.1	.	.	.	.	.	.	.	.	.	.	G	29.3	4.994580	0.93167	.	.	ENSG00000104884	ENST00000391941;ENST00000391942;ENST00000391945;ENST00000391944	T;T	0.71579	-0.58;-0.58	5.35	5.35	0.76521	.	0.053597	0.85682	N	0.000000	D	0.88908	0.6565	H	0.95437	3.67	0.80722	D	1	D;D;D	0.89917	0.999;0.998;1.0	D;D;D	0.97110	0.986;0.964;1.0	D	0.92044	0.5643	10	0.87932	D	0	-17.4231	16.553	0.84477	0.0:0.0:1.0:0.0	.	454;532;225	E7EVE9;P18074;Q6ZNQ5	.;ERCC2_HUMAN;.	S	482;508;532;454	ENSP00000375809:P532S;ENSP00000375808:P454S	ENSP00000375805:P482S	P	-	1	0	ERCC2	50549899	1.000000	0.71417	0.997000	0.53966	0.968000	0.65278	8.932000	0.92897	2.507000	0.84556	0.561000	0.74099	CCT		0.627	ERCC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109626.2	NM_000400		67	145	0	0	0	0.870114	0	67	145					A	45858059	G	A	45858059	3	1	38	1	0	0	0	0	1	0	0	0	5213	1232	43	3	716	3	ERCC2	19	45858059	Missense_Mutation	SNP	G	TCGA-CH-5788-01A-11D-1576-08	5437992	45858059	13270924	64	2123											
ZFP28	140612	broad.mit.edu	37	chr19	57065114	57065114	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	caagattcatatgctgaaggGgtaacagacagaacctcaaa	17	7	9	8	0	2	4	2	1	0	3	2	4	2	4	1	2	3	2	1	2	6	3			TCGA-CH-5788-01A-11D-1576-08	TCGA-CH-5788-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e272bea-9193-4c10-a802-f7e18b2937a3	ebc70303-3561-4cf6-a274-8c83d1d5f9bd	g.chr19:57065114G>A	ENST00000301318.3	+	8	1031	c.960G>A	c.(958-960)ggG>ggA	p.G320G	AC007228.11_ENST00000596587.1_RNA	NM_020828.1	NP_065879.1	Q8NHY6	ZFP28_HUMAN	ZFP28 zinc finger protein	320					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.G320G(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(14)|lung(6)|ovary(1)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	35		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0302)		ATGCTGAAGGGGTAACAGACA	0.403																																					Ovarian(124;554 1662 19430 21141 52494)	ENST00000301318.3																			1	Substitution - coding silent(1)	p.G320G(1)	prostate(1)	breast(1)|endometrium(2)|kidney(1)|large_intestine(14)|lung(6)|ovary(1)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	35						c.(958-960)ggG>ggA		ZFP28 zinc finger protein							77	70	72					19																	57065114		2203	4300	6503	SO:0001819	synonymous_variant	140612				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57065114G>A		CCDS12946.1	19q13.43	2013-01-08	2012-11-27			ENSG00000196867		"Zinc fingers, C2H2-type", "-"	17801	protein-coding gene	gene with protein product			"zinc finger protein 28 homolog (mouse)"				Standard	NM_020828		Approved	KIAA1431, mkr5	uc002qnj.3	Q8NHY6		ENST00000301318.3:c.960G>A	19.37:g.57065114G>A						AC007228.11_ENST00000596587.1_RNA	p.G320G	NM_020828.1	NP_065879.1	Q8NHY6	ZFP28_HUMAN		GBM - Glioblastoma multiforme(193;0.0302)	8	1031	+		Colorectal(82;0.000256)|Ovarian(87;0.243)	320					A0JNV6|K7ES88|Q8NHU8|Q9BY30|Q9P2B6	Silent	SNP	ENST00000301318.3	37	c.960G>A	CCDS12946.1																																																																																				0.403	ZFP28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458409.1	NM_020828		6	152	0	0	0	0.217242	0	6	152					A	57065114	G	A	57065114	2	1	38	1	0	0	0	0	0	0	0	1	17639	1219	43	3		3	ZFP28	19	57065114	Silent	SNP	G	TCGA-CH-5788-01A-11D-1576-08	11207055	57065114	2063869	65	2124											
CRNKL1	51340	broad.mit.edu	37	chr20	20028414	20028414	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgtccaaaggatatatcgcTcataaatggtgcgggcccga	11	9	11	10	4	1	0	1	0	0	0	4	2	2	1	2	3	1	1	2	3	5	3			TCGA-CH-5788-01A-11D-1576-08	TCGA-CH-5788-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e272bea-9193-4c10-a802-f7e18b2937a3	ebc70303-3561-4cf6-a274-8c83d1d5f9bd	g.chr20:20028414T>C	ENST00000377340.2	-	6	1131	c.1100A>G	c.(1099-1101)gAg>gGg	p.E367G	CRNKL1_ENST00000536226.1_Missense_Mutation_p.E206G|CRNKL1_ENST00000377327.4_Missense_Mutation_p.E355G	NM_001278628.1|NM_016652.4	NP_001265557.1|NP_057736.4	Q9BZJ0	CRNL1_HUMAN	crooked neck pre-mRNA splicing factor 1	367					mRNA splicing, via spliceosome (GO:0000398)|spliceosomal complex assembly (GO:0000245)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|spliceosomal complex (GO:0005681)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(2)|cervix(2)|endometrium(7)|large_intestine(11)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(6)	45						GATATATCGCTCATAAATGGT	0.517																																						ENST00000377340.2																			0				breast(2)|cervix(2)|endometrium(7)|large_intestine(11)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(6)	45						c.(1099-1101)gAg>gGg		crooked neck pre-mRNA splicing factor 1							102	93	96					20																	20028414		2203	4300	6503	SO:0001583	missense	51340				spliceosome assembly	catalytic step 2 spliceosome|cytoplasm|nuclear speck	RNA binding	g.chr20:20028414T>C	AF255443	CCDS33446.1, CCDS63238.1, CCDS63239.1	20p11.2	2013-10-03	2013-10-03		ENSG00000101343	ENSG00000101343			15762	protein-coding gene	gene with protein product	"SYF3 pre-mRNA-splicing factor"	610952	"crooked neck (Drosophila Crn homolog)-like 1", "Crn, crooked neck-like 1 (Drosophila)", "crooked neck pre-mRNA splicing factor-like 1 (Drosophila)"				Standard	NM_016652		Approved	CRN, CLF, SYF3, Clf1	uc002wrs.3	Q9BZJ0	OTTHUMG00000032000	ENST00000377340.2:c.1100A>G	20.37:g.20028414T>C	ENSP00000366557:p.Glu367Gly					CRNKL1_ENST00000377327.4_Missense_Mutation_p.E355G|CRNKL1_ENST00000536226.1_Missense_Mutation_p.E206G	p.E367G	NM_001278628.1|NM_016652.4	NP_001265557.1|NP_057736.4	Q9BZJ0	CRNL1_HUMAN			6	1131	-			367					A8K9T4|Q5JY64|Q8WYI5|Q9BZI9|Q9BZJ1|Q9BZJ2|Q9GZW7|Q9H8F8|Q9NQH5|Q9NYD8	Missense_Mutation	SNP	ENST00000377340.2	37	c.1100A>G	CCDS33446.1	.	.	.	.	.	.	.	.	.	.	T	19.78	3.891681	0.72524	.	.	ENSG00000101343	ENST00000377327;ENST00000377340;ENST00000536226	T;T;T	0.10573	2.86;2.86;2.86	5.62	5.62	0.85841	Tetratricopeptide-like helical (1);	0.379480	0.31495	N	0.007560	T	0.31979	0.0814	M	0.89715	3.055	0.80722	D	1	P;P	0.35307	0.494;0.494	B;P	0.45794	0.371;0.493	T	0.13737	-1.0498	10	0.66056	D	0.02	-12.8502	15.8286	0.78733	0.0:0.0:0.0:1.0	.	355;367	Q5JY65;Q9BZJ0	.;CRNL1_HUMAN	G	355;367;206	ENSP00000366544:E355G;ENSP00000366557:E367G;ENSP00000440733:E206G	ENSP00000366544:E355G	E	-	2	0	CRNKL1	19976414	1.000000	0.71417	0.961000	0.40146	0.966000	0.64601	8.040000	0.89188	2.145000	0.66743	0.533000	0.62120	GAG		0.517	CRNKL1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000127787.1			3	103	0	0	0	0.150653	0	3	103					C	20028414	T	C	20028414	3	2	38	1	0	0	0	0	1	0	0	0	3891	1551	54	4	1486	4	CRNKL1	20	20028414	Missense_Mutation	SNP	T	TCGA-CH-5788-01A-11D-1576-08		20028414	42997106	66	2125											
CACNG2	10369	broad.mit.edu	37	chr22	36960764	36960764	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cgcagctgtttgtgccggtcGataaacatgtgcaccgccag	8	9	12	12	4	0	0	0	0	0	0	1	1	0	0	3	1	4	4	3	1	2	2			TCGA-CH-5788-01A-11D-1576-08	TCGA-CH-5788-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e272bea-9193-4c10-a802-f7e18b2937a3	ebc70303-3561-4cf6-a274-8c83d1d5f9bd	g.chr22:36960764G>A	ENST00000300105.6	-	4	1587	c.606C>T	c.(604-606)atC>atT	p.I202I	RP5-1119A7.17_ENST00000562756.1_RNA	NM_006078.3	NP_006069.1	Q9Y698	CCG2_HUMAN	calcium channel, voltage-dependent, gamma subunit 2	202					membrane depolarization (GO:0051899)|membrane hyperpolarization (GO:0060081)|neuromuscular junction development (GO:0007528)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|synaptic transmission (GO:0007268)|transmission of nerve impulse (GO:0019226)|transport (GO:0006810)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|endocytic vesicle membrane (GO:0030666)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)	p.I202I(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	18						TGTGCCGGTCGATAAACATGT	0.622																																						ENST00000300105.6																			1	Substitution - coding silent(1)	p.I202I(1)	prostate(1)	breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	18						c.(604-606)atC>atT		calcium channel, voltage-dependent, gamma subunit 2							102	118	113					22																	36960764		2203	4300	6503	SO:0001819	synonymous_variant	10369				membrane depolarization|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity	g.chr22:36960764G>A	AF096322	CCDS13931.1	22q13.1	2006-08-01			ENSG00000166862	ENSG00000166862		"Calcium channel subunits"	1406	protein-coding gene	gene with protein product		602911					Standard	NM_006078		Approved	stargazin, MGC138502, MGC138504	uc003aps.2	Q9Y698	OTTHUMG00000030612	ENST00000300105.6:c.606C>T	22.37:g.36960764G>A							p.I202I	NM_006078.3	NP_006069.1	Q9Y698	CCG2_HUMAN			4	1587	-			202					Q2M1M1|Q5TGT3|Q9UGZ7	Silent	SNP	ENST00000300105.6	37	c.606C>T	CCDS13931.1																																																																																				0.622	CACNG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075500.2			142	194	0	0	0	0.870114	0	142	194					A	36960764	G	A	36960764	2	1	38	1	0	0	0	0	0	0	0	1	2557	1048	37	2		2	CACNG2	22	36960764	Silent	SNP	G	TCGA-CH-5788-01A-11D-1576-08		36960764	14343802	67	2126											
MFSD4	148808	broad.mit.edu	37	chr1	205549915	205549915	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcccgaggccacctgttcCatgtctccagggtgctgggc	4	9	12	16	1	1	0	0	0	1	0	4	1	3	0	6	3	1	2	6	3	0	1			TCGA-CH-5789-01A-11D-1576-08	TCGA-CH-5789-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68c5ec2-0875-4d77-b4b7-738d2b2f313c	ce3a5af9-17c9-4195-8da2-1bee4bac3cac	g.chr1:205549915C>A	ENST00000367147.4	+	3	649	c.556C>A	c.(556-558)Cat>Aat	p.H186N	MFSD4_ENST00000539267.1_Missense_Mutation_p.H186N|MFSD4_ENST00000536357.1_Intron	NM_181644.4	NP_857595.3	Q8N468	MFSD4_HUMAN	major facilitator superfamily domain containing 4	186					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)		p.H186N(1)		central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16	Breast(84;0.07)		BRCA - Breast invasive adenocarcinoma(75;0.0908)			CCACCTGTTCCATGTCTCCAG	0.617																																						ENST00000367147.4																			1	Substitution - Missense(1)	p.H186N(1)	prostate(1)	central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						c.(556-558)Cat>Aat		major facilitator superfamily domain containing 4							89	83	85					1																	205549915		2203	4300	6503	SO:0001583	missense	148808				transmembrane transport	integral to membrane		g.chr1:205549915C>A	BC036549	CCDS1455.1	1q32.1	2008-02-05			ENSG00000174514	ENSG00000174514			25433	protein-coding gene	gene with protein product							Standard	NM_181644		Approved	DKFZp761N1114, FLJ34577, UNQ3064, FLJ25004	uc001hcv.4	Q8N468	OTTHUMG00000037197	ENST00000367147.4:c.556C>A	1.37:g.205549915C>A	ENSP00000356115:p.His186Asn					MFSD4_ENST00000539267.1_Missense_Mutation_p.H186N|MFSD4_ENST00000536357.1_Intron	p.H186N	NM_181644.4	NP_857595.3	Q8N468	MFSD4_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.0908)		3	649	+	Breast(84;0.07)		186					B7Z8X3|Q6UY25|Q8NAY0|Q8TCP4	Missense_Mutation	SNP	ENST00000367147.4	37	c.556C>A	CCDS1455.1	.	.	.	.	.	.	.	.	.	.	C	19.13	3.767038	0.69878	.	.	ENSG00000174514	ENST00000367147;ENST00000539267	T;T	0.22743	1.94;1.94	4.73	4.73	0.59995	Major facilitator superfamily domain, general substrate transporter (1);	0.051610	0.85682	D	0.000000	T	0.39436	0.1078	L	0.54323	1.7	0.47065	D	0.999305	D;D	0.69078	0.997;0.993	D;D	0.79108	0.992;0.93	T	0.03662	-1.1015	10	0.27785	T	0.31	-29.6464	14.5685	0.68197	0.0:1.0:0.0:0.0	.	131;186	B7Z8X0;Q8N468	.;MFSD4_HUMAN	N	186	ENSP00000356115:H186N;ENSP00000445329:H186N	ENSP00000356115:H186N	H	+	1	0	MFSD4	203816538	0.994000	0.37717	0.997000	0.53966	0.918000	0.54935	3.803000	0.55560	2.451000	0.82905	0.643000	0.83706	CAT		0.617	MFSD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090391.1	NM_181644		4	92	1	0	1	1	1	4	92					A	205549915	C	A	205549915	3	1	39	1	0	0	0	0	1	0	0	0	9533	594	21	5	566	5	MFSD4	1	205549915	Missense_Mutation	SNP	C	TCGA-CH-5789-01A-11D-1576-08		205549915	43700706	1	2127											
RYR2	6262	broad.mit.edu	37	chr1	237801684	237801684	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttatttggctggttgtggaCtgcaaagttgccagatgctg	7	14	14	6	0	0	1	0	0	0	1	0	2	0	2	1	3	3	6	1	3	2	4			TCGA-CH-5789-01A-11D-1576-08	TCGA-CH-5789-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68c5ec2-0875-4d77-b4b7-738d2b2f313c	ce3a5af9-17c9-4195-8da2-1bee4bac3cac	g.chr1:237801684C>T	ENST00000366574.2	+	45	7137	c.6820C>T	c.(6820-6822)Ctg>Ttg	p.L2274L	RYR2_ENST00000360064.6_Silent_p.L2272L|RYR2_ENST00000542537.1_Silent_p.L2258L	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	2274	4 X approximate repeats.				BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)	p.L2274L(1)|p.L2272L(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TGGTTGTGGACTGCAAAGTTG	0.413																																						ENST00000366574.2																			2	Substitution - coding silent(2)	p.L2274L(1)|p.L2272L(1)	prostate(2)	NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586						c.(6820-6822)Ctg>Ttg		ryanodine receptor 2 (cardiac)							258	250	253					1																	237801684		1921	4135	6056	SO:0001819	synonymous_variant	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237801684C>T	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"Ion channels / Ryanodine receptors", "EF-hand domain containing"	10484	protein-coding gene	gene with protein product		180902	"arrhythmogenic right ventricular dysplasia 2"	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.6820C>T	1.37:g.237801684C>T						RYR2_ENST00000360064.6_Silent_p.L2272L|RYR2_ENST00000542537.1_Silent_p.L2258L	p.L2274L	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		45	7137	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	2274			4 X approximate repeats.		Q15411|Q546N8|Q5T3P2	Silent	SNP	ENST00000366574.2	37	c.6820C>T	CCDS55691.1																																																																																				0.413	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		8	248	0	0	0	1	0	8	248					T	237801684	C	T	237801684	2	4	39	1	0	0	0	0	0	0	0	1	13769	564	20	3		3	RYR2	1	237801684	Silent	SNP	C	TCGA-CH-5789-01A-11D-1576-08	32251769	237801684	11448937	2	2128											
SH3BP5L	80851	broad.mit.edu	37	chr1	249107303	249107303	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcagcctgttggcacagcCgagtcactcgctggtgctcc	5	9	11	16	2	2	0	2	0	0	0	4	1	3	0	4	2	3	4	4	2	0	1			TCGA-CH-5789-01A-11D-1576-08	TCGA-CH-5789-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68c5ec2-0875-4d77-b4b7-738d2b2f313c	ce3a5af9-17c9-4195-8da2-1bee4bac3cac	g.chr1:249107303C>A	ENST00000366472.5	-	6	1825	c.596G>T	c.(595-597)cGg>cTg	p.R199L	SH3BP5L_ENST00000475978.1_5'UTR|SH3BP5L_ENST00000411742.2_Missense_Mutation_p.R167L	NM_030645.1	NP_085148.1	Q7L8J4	3BP5L_HUMAN	SH3-binding domain protein 5-like	199								p.R199L(1)		endometrium(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.19)	OV - Ovarian serous cystadenocarcinoma(106;0.00805)			TTGGCACAGCCGAGTCACTCG	0.637																																						ENST00000366472.5																			1	Substitution - Missense(1)	p.R199L(1)	prostate(1)	endometrium(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23						c.(595-597)cGg>cTg		SH3-binding domain protein 5-like							43	40	41					1																	249107303		2203	4300	6503	SO:0001583	missense	80851							g.chr1:249107303C>A	AB051507	CCDS31126.1	1q44	2008-02-05			ENSG00000175137	ENSG00000175137			29360	protein-coding gene	gene with protein product							Standard	NM_030645		Approved	KIAA1720	uc001iew.1	Q7L8J4	OTTHUMG00000040389	ENST00000366472.5:c.596G>T	1.37:g.249107303C>A	ENSP00000355428:p.Arg199Leu					SH3BP5L_ENST00000411742.2_Missense_Mutation_p.R167L|SH3BP5L_ENST00000475978.1_5'UTR	p.R199L	NM_030645.1	NP_085148.1	Q7L8J4	3BP5L_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00805)		6	1825	-	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.19)	199					B4DQ94|Q96FI5|Q9BQH8|Q9C0E3	Missense_Mutation	SNP	ENST00000366472.5	37	c.596G>T	CCDS31126.1	.	.	.	.	.	.	.	.	.	.	C	15.95	2.984401	0.53934	.	.	ENSG00000175137	ENST00000366472;ENST00000411742	T	0.79141	-1.24	4.4	3.47	0.39725	.	0.143577	0.46442	D	0.000296	T	0.66167	0.2762	L	0.38175	1.15	0.36070	D	0.842057	P;P;P;B	0.39535	0.677;0.55;0.677;0.077	B;B;B;B	0.39185	0.293;0.293;0.293;0.047	T	0.70171	-0.4945	10	0.30078	T	0.28	-34.8915	9.678	0.40052	0.0:0.8956:0.0:0.1044	.	167;92;199;57	B4DQ94;B4DSF1;Q7L8J4;Q96MW4	.;.;3BP5L_HUMAN;.	L	199;167	ENSP00000412203:R167L	ENSP00000355428:R199L	R	-	2	0	SH3BP5L	247073926	0.035000	0.19736	0.996000	0.52242	0.863000	0.49368	1.418000	0.34782	2.156000	0.67533	0.467000	0.42956	CGG		0.637	SH3BP5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097140.1	NM_030645		2	5	1	0	0.0784	1	0.0866526	2	5					A	249107303	C	A	249107303	3	1	39	1	0	0	0	0	1	0	0	0	14248	652	23	5	593	5	SH3BP5L	1	249107303	Missense_Mutation	SNP	C	TCGA-CH-5789-01A-11D-1576-08	11305619	249107303	143318	3	2129											
NLRC4	58484	broad.mit.edu	37	chr2	32475161	32475161	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtcaaataagtaatcggggAtgttccctgagttgatatat	13	13	10	5	1	1	2	1	2	0	0	3	3	2	3	1	2	0	3	1	2	5	6			TCGA-CH-5789-01A-11D-1576-08	TCGA-CH-5789-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68c5ec2-0875-4d77-b4b7-738d2b2f313c	ce3a5af9-17c9-4195-8da2-1bee4bac3cac	g.chr2:32475161A>T	ENST00000404025.2	-	5	2260	c.1772T>A	c.(1771-1773)aTc>aAc	p.I591N	NLRC4_ENST00000360906.5_Missense_Mutation_p.I591N|NLRC4_ENST00000342905.6_Intron|NLRC4_ENST00000402280.1_Missense_Mutation_p.I591N			Q9NPP4	NLRC4_HUMAN	NLR family, CARD domain containing 4	591					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of innate immune response (GO:0002218)|defense response to bacterium (GO:0042742)|detection of bacterium (GO:0016045)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-1 beta secretion (GO:0050702)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of apoptotic process (GO:0043065)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein homooligomerization (GO:0051260)|pyroptosis (GO:0070269)	cytosol (GO:0005829)|intracellular (GO:0005622)|IPAF inflammasome complex (GO:0072557)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|magnesium ion binding (GO:0000287)|protein homodimerization activity (GO:0042803)	p.I591N(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(1)|ovary(3)|skin(2)|stomach(2)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					GTAATCGGGGATGTTCCCTGA	0.408																																						ENST00000404025.2																			1	Substitution - Missense(1)	p.I591N(1)	prostate(1)	breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(1)|ovary(3)|skin(2)|stomach(2)	16						c.(1771-1773)aTc>aAc		NLR family, CARD domain containing 4							100	101	100					2																	32475161		2203	4300	6503	SO:0001583	missense	58484				activation of caspase activity|defense response to bacterium|detection of bacterium|interleukin-1 beta secretion|positive regulation of apoptosis	cytoplasm	ATP binding|magnesium ion binding|protein homodimerization activity	g.chr2:32475161A>T	AF376061	CCDS33174.1	2p22-p21	2008-08-27	2006-12-08	2006-12-08	ENSG00000091106	ENSG00000091106		"Nucleotide-binding domain and leucine rich repeat containing"	16412	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 4", "NOD-like receptor C4"	606831	"caspase recruitment domain family, member 12"	CARD12		11374873	Standard	NM_021209		Approved	CLAN1, ipaf, CLANA, CLANB, CLANC, CLAND, CLR2.1, CLAN	uc021vfq.1	Q9NPP4	OTTHUMG00000152107	ENST00000404025.2:c.1772T>A	2.37:g.32475161A>T	ENSP00000385090:p.Ile591Asn					NLRC4_ENST00000402280.1_Missense_Mutation_p.I591N|NLRC4_ENST00000360906.5_Missense_Mutation_p.I591N|NLRC4_ENST00000342905.6_Intron	p.I591N			Q9NPP4	NLRC4_HUMAN			5	2260	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)		591					A8K9F8|B2RBQ3|B3KTF0|D6W580|Q96J81|Q96J82|Q96J83	Missense_Mutation	SNP	ENST00000404025.2	37	c.1772T>A	CCDS33174.1	.	.	.	.	.	.	.	.	.	.	A	13.45	2.241214	0.39598	.	.	ENSG00000091106	ENST00000360906;ENST00000402280;ENST00000404025	T;T;T	0.56941	0.43;0.43;0.43	3.0	3.0	0.34707	.	0.000000	0.48767	D	0.000179	T	0.56673	0.2001	L	0.29908	0.895	0.34671	D	0.723666	D	0.71674	0.998	D	0.79784	0.993	T	0.64487	-0.6396	9	0.37606	T	0.19	.	11.0424	0.47838	1.0:0.0:0.0:0.0	.	591	Q9NPP4	NLRC4_HUMAN	N	591	ENSP00000354159:I591N;ENSP00000385428:I591N;ENSP00000385090:I591N	ENSP00000354159:I591N	I	-	2	0	NLRC4	32328665	1.000000	0.71417	1.000000	0.80357	0.537000	0.34900	3.257000	0.51500	1.632000	0.50472	0.443000	0.29094	ATC		0.408	NLRC4-001	KNOWN	non_canonical_other|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325222.2	NM_021209		6	245	0	0	0	1	0	6	245					T	32475161	A	T	32475161	3	4	39	1	0	0	0	0	1	0	0	0	10469	333	12	5	1326	5	NLRC4	2	32475161	Missense_Mutation	SNP	A	TCGA-CH-5789-01A-11D-1576-08		32475161	210724212	4	2130											
LTBP1	4052	broad.mit.edu	37	chr2	33172887	33172887	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agaagcagcagctgcaggggTaagcccacacccccttccgc	10	4	11	16	1	0	1	0	0	0	1	1	1	1	1	4	2	5	5	4	2	2	2			TCGA-CH-5789-01A-11D-1576-08	TCGA-CH-5789-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68c5ec2-0875-4d77-b4b7-738d2b2f313c	ce3a5af9-17c9-4195-8da2-1bee4bac3cac	g.chr2:33172887T>C	ENST00000404816.2	+	1	847		c.e1+2		LTBP1_ENST00000354476.3_Splice_Site|Y_RNA_ENST00000384224.1_RNA			Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding protein 1						extracellular matrix organization (GO:0030198)|sequestering of TGFbeta in extracellular matrix (GO:0035583)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta-activated receptor activity (GO:0005024)	p.?(2)		breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				GCTGCAGGGGTAAgcccacac	0.726																																						ENST00000404816.2																			2	Unknown(2)	p.?(2)	prostate(2)	breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108						c.e1+2		latent transforming growth factor beta binding protein 1							5	5	5					2																	33172887		1515	2855	4370	SO:0001630	splice_region_variant	4052				negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta	proteinaceous extracellular matrix	calcium ion binding|growth factor binding|transforming growth factor beta receptor activity	g.chr2:33172887T>C		CCDS33177.1, CCDS33178.1, CCDS33177.2, CCDS33178.2, CCDS54344.1, CCDS54345.1	2p22-p21	2008-05-23			ENSG00000049323	ENSG00000049323		"Latent transforming growth factor, beta binding proteins"	6714	protein-coding gene	gene with protein product	"TGF-beta1-BP-1"	150390				2350783, 11104663	Standard	NM_206943		Approved		uc021vft.1	Q14766	OTTHUMG00000152118	ENST00000404816.2:c.494+2T>C	2.37:g.33172887T>C						LTBP1_ENST00000354476.3_Splice_Site				Q14766	LTBP1_HUMAN			1	847	+	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)						A1L3V1|P22064|Q53SD8|Q53SF3|Q53SG1|Q59HF7|Q8TD95	Splice_Site	SNP	ENST00000404816.2	37		CCDS33177.2	.	.	.	.	.	.	.	.	.	.	T	18.20	3.570559	0.65765	.	.	ENSG00000049323	ENST00000404816;ENST00000354476	.	.	.	4.67	3.53	0.40419	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.4011	0.26965	0.0:0.102:0.0:0.898	.	.	.	.	.	-1	.	.	.	+	.	.	LTBP1	33026391	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	2.153000	0.42282	1.731000	0.51592	0.459000	0.35465	.		0.726	LTBP1-014	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000326227.2	NM_206943	Intron	2	9	0	0	0	1	0	2	9					C	33172887	T	C	33172887	5	2	39	1	0	0	0	0	0	0	1	0	9073	1652	57	4	498	4	LTBP1	2	33172887	Splice_Site	SNP	T	TCGA-CH-5789-01A-11D-1576-08	697726	33172887	210026486	5	2131											
THNSL2	55258	broad.mit.edu	37	chr2	88478453	88478453	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacttctttgcttacttccaGtgtacgccatccttggacac	7	14	6	14	1	1	0	0	0	1	0	3	1	3	1	3	1	3	2	3	1	2	6			TCGA-CH-5789-01A-11D-1576-08	TCGA-CH-5789-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68c5ec2-0875-4d77-b4b7-738d2b2f313c	ce3a5af9-17c9-4195-8da2-1bee4bac3cac	g.chr2:88478453G>A	ENST00000324166.5	+	4	2414	c.723G>A	c.(721-723)caG>caA	p.Q241Q	THNSL2_ENST00000358591.2_Silent_p.Q241Q|THNSL2_ENST00000402102.1_Silent_p.Q241Q|THNSL2_ENST00000343544.4_Silent_p.Q241Q|THNSL2_ENST00000449349.1_Silent_p.Q209Q|THNSL2_ENST00000496844.1_3'UTR|THNSL2_ENST00000377254.3_Silent_p.Q241Q	NM_018271.4	NP_060741.3	Q86YJ6	THNS2_HUMAN	threonine synthase-like 2 (S. cerevisiae)	241					2-oxobutyrate biosynthetic process (GO:0046360)|dephosphorylation (GO:0016311)|serine family amino acid catabolic process (GO:0009071)	extracellular space (GO:0005615)	lyase activity (GO:0016829)|pyridoxal phosphate binding (GO:0030170)|serine binding (GO:0070905)	p.Q241Q(1)		breast(4)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)	27						CTTACTTCCAGTGTACGCCAT	0.552																																						ENST00000324166.5																			1	Substitution - coding silent(1)	p.Q241Q(1)	prostate(1)	breast(4)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)	27						c.(721-723)caG>caA		threonine synthase-like 2 (S. cerevisiae)							257	228	238					2																	88478453		2203	4300	6503	SO:0001819	synonymous_variant	55258				threonine biosynthetic process		threonine synthase activity	g.chr2:88478453G>A		CCDS2002.2, CCDS58718.1, CCDS74539.1	2p11.2	2007-06-20			ENSG00000144115	ENSG00000144115			25602	protein-coding gene	gene with protein product		611261				17034760	Standard	NM_018271		Approved	FLJ10916	uc021vkr.1	Q86YJ6	OTTHUMG00000130314	ENST00000324166.5:c.723G>A	2.37:g.88478453G>A						THNSL2_ENST00000358591.2_Silent_p.Q241Q|THNSL2_ENST00000449349.1_Silent_p.Q209Q|THNSL2_ENST00000496844.1_3'UTR|THNSL2_ENST00000402102.1_Silent_p.Q241Q|THNSL2_ENST00000343544.4_Silent_p.Q241Q|THNSL2_ENST00000377254.3_Silent_p.Q241Q	p.Q241Q	NM_018271.4	NP_060741.3	Q86YJ6	THNS2_HUMAN			4	2414	+			241					B3KTB1|B5MDX8|B7WPF8|D9ZZB8|Q6P2M7|Q6PI27|Q9NV54	Silent	SNP	ENST00000324166.5	37	c.723G>A	CCDS2002.2																																																																																				0.552	THNSL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252662.1	NM_018271		10	447	0	0	0	1	0	10	447					A	88478453	G	A	88478453	2	1	39	1	0	0	0	0	0	0	0	1	15860	1020	36	3		3	THNSL2	2	88478453	Silent	SNP	G	TCGA-CH-5789-01A-11D-1576-08	55305566	88478453	154720920	6	2132											
CP	1356	broad.mit.edu	37	chr3	148905905	148905905	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctgatcaggtgcagttgtaaAcattctaatattatcttcca	12	15	6	8	0	3	1	1	1	2	0	4	1	4	1	1	1	2	3	1	1	5	7			TCGA-CH-5789-01A-11D-1576-08	TCGA-CH-5789-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68c5ec2-0875-4d77-b4b7-738d2b2f313c	ce3a5af9-17c9-4195-8da2-1bee4bac3cac	g.chr3:148905905A>C	ENST00000264613.6	-	10	2060	c.1798T>G	c.(1798-1800)Ttt>Gtt	p.F600V	CP_ENST00000462336.1_5'UTR	NM_000096.3	NP_000087	P00450	CERU_HUMAN	ceruloplasmin (ferroxidase)	600	F5/8 type A 2.|Plastocyanin-like 4.				cellular iron ion homeostasis (GO:0006879)|copper ion transport (GO:0006825)|transmembrane transport (GO:0055085)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)	chaperone binding (GO:0051087)|copper ion binding (GO:0005507)|ferroxidase activity (GO:0004322)	p.F600V(1)		breast(6)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		Prostate(884;0.00217)|Hepatocellular(537;0.00826)|Myeloproliferative disorder(1037;0.0122)|all_neural(597;0.0189)|Melanoma(1037;0.152)	LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)		Drotrecogin alfa(DB00055)	GCAGTTGTAAACATTCTAATA	0.343																																						ENST00000264613.6																			1	Substitution - Missense(1)	p.F600V(1)	prostate(1)	breast(6)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						c.(1798-1800)Ttt>Gtt		ceruloplasmin (ferroxidase)	Drotrecogin alfa(DB00055)						120	118	119					3																	148905905		2203	4297	6500	SO:0001583	missense	1356				cellular iron ion homeostasis|copper ion transport|transmembrane transport	extracellular space	chaperone binding|ferroxidase activity	g.chr3:148905905A>C	M13536	CCDS3141.1	3q23-q25	2010-07-01			ENSG00000047457	ENSG00000047457	1.16.3.1		2295	protein-coding gene	gene with protein product		117700					Standard	NM_000096		Approved		uc003ewy.4	P00450	OTTHUMG00000159563	ENST00000264613.6:c.1798T>G	3.37:g.148905905A>C	ENSP00000264613:p.Phe600Val					CP_ENST00000462336.1_5'UTR	p.F600V	NM_000096.3	NP_000087.1	P00450	CERU_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)		10	2060	-		Prostate(884;0.00217)|Hepatocellular(537;0.00826)|Myeloproliferative disorder(1037;0.0122)|all_neural(597;0.0189)|Melanoma(1037;0.152)	600			F5/8 type A 2.|Plastocyanin-like 4.		Q14063|Q2PP18|Q9UKS4	Missense_Mutation	SNP	ENST00000264613.6	37	c.1798T>G	CCDS3141.1	.	.	.	.	.	.	.	.	.	.	A	21.8	4.200832	0.79015	.	.	ENSG00000047457	ENST00000264613;ENST00000494544	D;D	0.97959	-4.63;-4.63	6.06	6.06	0.98353	Cupredoxin (2);	0.097795	0.64402	D	0.000001	D	0.98823	0.9603	M	0.90483	3.12	0.54753	D	0.999985	D;P;D;D	0.67145	0.993;0.932;0.993;0.996	P;P;P;D	0.64506	0.825;0.639;0.825;0.926	D	0.99449	1.0940	10	0.56958	D	0.05	-29.7083	16.6127	0.84892	1.0:0.0:0.0:0.0	.	600;600;600;600	A5PL27;A8K5A4;P00450;Q1L857	.;.;CERU_HUMAN;.	V	600;383	ENSP00000264613:F600V;ENSP00000420545:F383V	ENSP00000264613:F600V	F	-	1	0	CP	150388595	1.000000	0.71417	0.998000	0.56505	0.915000	0.54546	6.544000	0.73878	2.322000	0.78497	0.528000	0.53228	TTT		0.343	CP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317498.1	NM_000096		6	261	0	0	0	1	0	6	261					C	148905905	A	C	148905905	3	2	39	1	0	0	0	0	1	0	0	0	3787	43	2	5	1439	5	CP	3	148905905	Missense_Mutation	SNP	A	TCGA-CH-5789-01A-11D-1576-08		148905905	49116525	7	2133											
DAXX	1616	broad.mit.edu	37	chr6	33287900	33287900	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctcctcctcttcttcttcCtcctcctcctcctcttcctc	0	17	1	23	0	4	0	0	0	4	0	13	0	12	0	9	0	0	0	9	0	0	4			TCGA-CH-5789-01A-11D-1576-08	TCGA-CH-5789-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68c5ec2-0875-4d77-b4b7-738d2b2f313c	ce3a5af9-17c9-4195-8da2-1bee4bac3cac	g.chr6:33287900C>T	ENST00000374542.5	-	5	1557	c.1353G>A	c.(1351-1353)gaG>gaA	p.E451E	DAXX_ENST00000477162.1_5'UTR|ZBTB22_ENST00000431845.2_5'Flank|DAXX_ENST00000414083.2_Silent_p.E376E|ZBTB22_ENST00000418724.1_5'Flank|DAXX_ENST00000266000.6_Silent_p.E451E	NM_001141969.1|NM_001141970.1|NM_001350.4	NP_001135441.1|NP_001135442.1|NP_001341.1	Q9UER7	DAXX_HUMAN	death-domain associated protein	451	Asp/Glu-rich (acidic).|Necessary for interaction with USP7.				activation of JUN kinase activity (GO:0007257)|androgen receptor signaling pathway (GO:0030521)|apoptotic process (GO:0006915)|chromatin remodeling (GO:0006338)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|mitotic cytokinesis (GO:0000281)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of neuron death (GO:1901216)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein phosphorylation (GO:0001934)|regulation of protein ubiquitination (GO:0031396)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|heterochromatin (GO:0000792)|nucleus (GO:0005634)|PML body (GO:0016605)|SWI/SNF superfamily-type complex (GO:0070603)	androgen receptor binding (GO:0050681)|enzyme binding (GO:0019899)|heat shock protein binding (GO:0031072)|histone binding (GO:0042393)|p53 binding (GO:0002039)|protein homodimerization activity (GO:0042803)|protein kinase activator activity (GO:0030295)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|receptor signaling protein activity (GO:0005057)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)	p.E451E(2)		breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(2)|lung(7)|ovary(3)|pancreas(18)|prostate(3)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	55						cttcttcttcctcctcctcct	0.557			"Mis, F, N"		Pancreatic neuroendocrine tumors. Paediatric GBM																																	ENST00000374542.5				Rec	yes		6	6p21.3	1616	"Mis, F, N"	death-domain associated protein			E			Pancreatic neuroendocrine tumors. Paediatric GBM		2	Substitution - coding silent(2)	p.E451E(2)	prostate(1)|kidney(1)	breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(2)|lung(7)|ovary(3)|pancreas(18)|prostate(3)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	55						c.(1351-1353)gaG>gaA		death-domain associated protein							127	100	109					6																	33287900		2203	4300	6503	SO:0001819	synonymous_variant	1616				activation of JUN kinase activity|androgen receptor signaling pathway|apoptosis|induction of apoptosis via death domain receptors|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|regulation of protein ubiquitination|transcription, DNA-dependent	chromosome, centromeric region|cytosol|nucleolus|PML body	androgen receptor binding|heat shock protein binding|p53 binding|protein homodimerization activity|protein N-terminus binding|receptor signaling protein activity|transcription factor binding|ubiquitin protein ligase binding	g.chr6:33287900C>T	AF006041	CCDS4776.1, CCDS59008.1	6p21.3	2008-08-29	2008-08-29			ENSG00000204209			2681	protein-coding gene	gene with protein product		603186	"death-associated protein 6"			9407001, 9215629	Standard	NM_001141970		Approved	DAP6	uc011dre.2	Q9UER7		ENST00000374542.5:c.1353G>A	6.37:g.33287900C>T						DAXX_ENST00000414083.2_Silent_p.E376E|DAXX_ENST00000266000.6_Silent_p.E451E|DAXX_ENST00000477162.1_5'UTR	p.E451E	NM_001141969.1|NM_001141970.1|NM_001350.4	NP_001135441.1|NP_001135442.1|NP_001341.1	Q9UER7	DAXX_HUMAN			5	1557	-			451			Asp/Glu-rich (acidic).|Necessary for interaction with USP7.		B4E1I3|F5H082|O14747|O15141|O15208|Q5STK9|Q9BWI3	Silent	SNP	ENST00000374542.5	37	c.1353G>A	CCDS4776.1																																																																																				0.557	DAXX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076403.1			3	91	0	0	0	1	0	3	91					T	33287900	C	T	33287900	2	4	39	1	0	0	0	0	0	0	0	1	4243	680	24	3		3	DAXX	6	33287900	Silent	SNP	C	TCGA-CH-5789-01A-11D-1576-08		33287900	137827167	8	2134											
GABRR2	2570	broad.mit.edu	37	chr6	89974189	89974189	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tggtcaggtagttgacagccGcatactccagcaccgagagg	10	7	13	11	2	1	2	1	1	0	1	2	3	2	2	3	3	3	4	3	3	2	3	rs149245573		TCGA-CH-5789-01A-11D-1576-08	TCGA-CH-5789-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68c5ec2-0875-4d77-b4b7-738d2b2f313c	ce3a5af9-17c9-4195-8da2-1bee4bac3cac	g.chr6:89974189G>A	ENST00000402938.3	-	8	1161	c.1028C>T	c.(1027-1029)gCg>gTg	p.A343V	GABRR2_ENST00000602399.1_Missense_Mutation_p.A368V	NM_002043.3	NP_002034.3	P28476	GBRR2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, rho 2	343					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)	p.A343V(3)		central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(10)|prostate(2)|urinary_tract(1)	21		all_cancers(76;1.67e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.77e-07)|all_epithelial(107;2.51e-05)|Lung NSC(302;0.238)		BRCA - Breast invasive adenocarcinoma(108;0.0158)	Adinazolam(DB00546)|Bromazepam(DB01558)|Cinolazepam(DB01594)|Clotiazepam(DB01559)|Diazepam(DB00829)|Estazolam(DB01215)|Fludiazepam(DB01567)|Flurazepam(DB00690)|Halazepam(DB00801)|Midazolam(DB00683)|Nitrazepam(DB01595)|Oxazepam(DB00842)|Prazepam(DB01588)|Quazepam(DB01589)|Temazepam(DB00231)|Triazolam(DB00897)	GTTGACAGCCGCATACTCCAG	0.597													G|||	1	0.000199681	0	0	5008	,	,		20743	0		0.001	False		,,,				2504	0					ENST00000402938.3																			3	Substitution - Missense(3)	p.A343V(3)	prostate(2)|lung(1)	central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(10)|prostate(2)|urinary_tract(1)	21						c.(1027-1029)gCg>gTg		gamma-aminobutyric acid (GABA) A receptor, rho 2							116	88	97					6																	89974189		2203	4300	6503	SO:0001583	missense	2570				synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chr6:89974189G>A		CCDS5020.2, CCDS5020.3	6q15	2012-06-22	2012-02-03		ENSG00000111886	ENSG00000111886		"GABA receptors", "Ligand-gated ion channels / GABA(A) receptors"	4091	protein-coding gene	gene with protein product	"GABA(A) receptor, rho 2"	137162	"gamma-aminobutyric acid (GABA) receptor, rho 2"			1315307	Standard	NM_002043		Approved		uc003pnb.3	P28476	OTTHUMG00000015198	ENST00000402938.3:c.1028C>T	6.37:g.89974189G>A	ENSP00000386029:p.Ala343Val					GABRR2_ENST00000602399.1_Missense_Mutation_p.A368V	p.A343V			P28476	GBRR2_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0158)	8	1161	-		all_cancers(76;1.67e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.77e-07)|all_epithelial(107;2.51e-05)|Lung NSC(302;0.238)	368					A2BDE4|Q9H153	Missense_Mutation	SNP	ENST00000402938.3	37	c.1028C>T	CCDS5020.3	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	36	5.780845	0.96929	.	.	ENSG00000111886	ENST00000402938	.	.	.	5.93	5.93	0.95920	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.000000	0.85682	D	0.000000	T	0.82015	0.4945	M	0.82323	2.585	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.81116	-0.1079	8	.	.	.	.	20.3437	0.98782	0.0:0.0:1.0:0.0	.	368	P28476	GBRR2_HUMAN	V	368	.	.	A	-	2	0	GABRR2	90030908	1.000000	0.71417	0.997000	0.53966	0.965000	0.64279	9.869000	0.99810	2.815000	0.96918	0.561000	0.74099	GCG		0.597	GABRR2-001	KNOWN	upstream_ATG|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000041482.3			3	53	0	0	0	1	0	3	53					A	89974189	G	A	89974189	3	1	39	1	0	0	0	0	1	0	0	0	6177	1087	38	1	377	1	GABRR2	6	89974189	Missense_Mutation	SNP	G	TCGA-CH-5789-01A-11D-1576-08	56686289	89974189	81140878	9	2135											
ADCY1	107	broad.mit.edu	37	chr7	45744119	45744119	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttatgttttaaacaaagctCatggaaaaagacttttacaa	17	14	5	5	0	1	1	1	0	0	1	1	2	1	2	0	1	3	2	0	1	8	6			TCGA-CH-5789-01A-11D-1576-08	TCGA-CH-5789-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68c5ec2-0875-4d77-b4b7-738d2b2f313c	ce3a5af9-17c9-4195-8da2-1bee4bac3cac	g.chr7:45744119C>A	ENST00000297323.7	+	17	2743	c.2721C>A	c.(2719-2721)ctC>ctA	p.L907L		NM_021116.2	NP_066939.1	Q08828	ADCY1_HUMAN	adenylate cyclase 1 (brain)	907					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|axonogenesis (GO:0007409)|cellular response to glucagon stimulus (GO:0071377)|circadian rhythm (GO:0007623)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|long-term memory (GO:0007616)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of circadian rhythm (GO:0042752)|response to drug (GO:0042493)|response to lithium ion (GO:0010226)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)	p.L907L(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	71					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	AAACAAAGCTCATGGAAAAAG	0.498																																						ENST00000297323.7																			1	Substitution - coding silent(1)	p.L907L(1)	prostate(1)	breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	71						c.(2719-2721)ctC>ctA		adenylate cyclase 1 (brain)	Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Adenosine(DB00640)						63	66	65					7																	45744119		2203	4300	6503	SO:0001819	synonymous_variant	107				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding	g.chr7:45744119C>A	L05500	CCDS34631.1, CCDS75593.1	7p13-p12	2013-02-04			ENSG00000164742	ENSG00000164742	4.6.1.1	"Adenylate cyclases"	232	protein-coding gene	gene with protein product		103072				8314585	Standard	NM_021116		Approved	AC1	uc003tne.4	Q08828	OTTHUMG00000155420	ENST00000297323.7:c.2721C>A	7.37:g.45744119C>A							p.L907L	NM_021116.2	NP_066939.1	Q08828	ADCY1_HUMAN			17	2743	+			907					A4D2L8|Q75MI1	Silent	SNP	ENST00000297323.7	37	c.2721C>A	CCDS34631.1																																																																																				0.498	ADCY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340055.2	NM_021116		6	134	1	0	5.9392e-07	1	6.74179e-07	6	134					A	45744119	C	A	45744119	2	1	39	1	0	0	0	0	0	0	0	1	292	813	29	5		5	ADCY1	7	45744119	Silent	SNP	C	TCGA-CH-5789-01A-11D-1576-08		45744119	113394544	10	2136											
PEX1	5189	broad.mit.edu	37	chr7	92147136	92147136	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcaactggaatctctgactcGttttcattagattcagtgat	10	16	7	8	1	4	3	3	2	1	1	6	4	4	4	0	1	1	1	0	1	3	4			TCGA-CH-5789-01A-11D-1576-08	TCGA-CH-5789-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68c5ec2-0875-4d77-b4b7-738d2b2f313c	ce3a5af9-17c9-4195-8da2-1bee4bac3cac	g.chr7:92147136G>A	ENST00000248633.4	-	5	788	c.693C>T	c.(691-693)aaC>aaT	p.N231N	PEX1_ENST00000438045.1_Intron|PEX1_ENST00000428214.1_Silent_p.N231N|PEX1_ENST00000541751.1_5'Flank	NM_000466.2	NP_000457.1	O43933	PEX1_HUMAN	peroxisomal biogenesis factor 1	231					ATP catabolic process (GO:0006200)|microtubule-based peroxisome localization (GO:0060152)|peroxisome organization (GO:0007031)|protein import into peroxisome matrix (GO:0016558)|protein targeting to peroxisome (GO:0006625)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)	p.N231N(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41	all_cancers(62;9.35e-11)|all_epithelial(64;4.59e-10)|Breast(17;0.00201)|all_lung(186;0.0438)|Lung NSC(181;0.0592)	Breast(660;0.000932)|all_neural(109;0.00391)|Myeloproliferative disorder(862;0.0122)|Ovarian(593;0.023)|Medulloblastoma(109;0.123)	GBM - Glioblastoma multiforme(5;4.06e-06)|STAD - Stomach adenocarcinoma(4;4.51e-05)|all cancers(6;5.32e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23)			TCTCTGACTCGTTTTCATTAG	0.363																																						ENST00000248633.4																			1	Substitution - coding silent(1)	p.N231N(1)	prostate(1)	breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						c.(691-693)aaC>aaT		peroxisomal biogenesis factor 1							92	90	91					7																	92147136		2203	4300	6503	SO:0001819	synonymous_variant	5189				microtubule-based peroxisome localization|protein import into peroxisome matrix	cytosol|nucleus|peroxisomal membrane	ATP binding|ATPase activity, coupled|protein C-terminus binding|protein complex binding	g.chr7:92147136G>A	AF026086	CCDS5627.1, CCDS64710.1	7q21.2	2010-04-21	2008-08-26		ENSG00000127980	ENSG00000127980		"ATPases / AAA-type"	8850	protein-coding gene	gene with protein product		602136	"peroxisome biogenesis factor 1", "Zellweger syndrome 1", "Zellweger syndrome"	ZWS1, ZWS		9398848	Standard	NM_001282677		Approved		uc003uly.3	O43933	OTTHUMG00000023926	ENST00000248633.4:c.693C>T	7.37:g.92147136G>A						PEX1_ENST00000428214.1_Silent_p.N231N|PEX1_ENST00000438045.1_Intron	p.N231N	NM_000466.2	NP_000457.1	O43933	PEX1_HUMAN	GBM - Glioblastoma multiforme(5;4.06e-06)|STAD - Stomach adenocarcinoma(4;4.51e-05)|all cancers(6;5.32e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23)		5	788	-	all_cancers(62;9.35e-11)|all_epithelial(64;4.59e-10)|Breast(17;0.00201)|all_lung(186;0.0438)|Lung NSC(181;0.0592)	Breast(660;0.000932)|all_neural(109;0.00391)|Myeloproliferative disorder(862;0.0122)|Ovarian(593;0.023)|Medulloblastoma(109;0.123)	231					A4D1G3|A8KA90|B4DIM7|E9PE75|Q96S71|Q96S72|Q96S73|Q99994	Silent	SNP	ENST00000248633.4	37	c.693C>T	CCDS5627.1																																																																																				0.363	PEX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254066.3	NM_000466		6	147	0	0	0	1	0	6	147					A	92147136	G	A	92147136	2	1	39	1	0	0	0	0	0	0	0	1	11735	1136	40	1		1	PEX1	7	92147136	Silent	SNP	G	TCGA-CH-5789-01A-11D-1576-08	46403017	92147136	66991527	11	2137											
PPP1R3A	5506	broad.mit.edu	37	chr7	113519968	113519968	+	Frame_Shift_Del	DEL	T	T	-																															cagtcatctcctgaggaataTttttcattgcagtaaaaatc																										TCGA-CH-5789-01A-11D-1576-08	TCGA-CH-5789-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68c5ec2-0875-4d77-b4b7-738d2b2f313c	ce3a5af9-17c9-4195-8da2-1bee4bac3cac	g.chr7:113519968delT	ENST00000284601.3	-	4	1247	c.1179delA	c.(1177-1179)aaafs	p.K393fs		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	393					glycogen metabolic process (GO:0005977)	integral component of membrane (GO:0016021)				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						CTGAGGAATATTTTTCATTGC	0.393																																						ENST00000284601.3																			0				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						c.(1177-1179)aafs		protein phosphatase 1, regulatory subunit 3A							163	160	161					7																	113519968		2203	4300	6503	SO:0001589	frameshift_variant	5506				glycogen metabolic process	integral to membrane		g.chr7:113519968delT	AF024578	CCDS5759.1	7q31.1	2012-04-17	2011-10-04	2001-07-02	ENSG00000154415	ENSG00000154415	3.1.3.16	"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	9291	protein-coding gene	gene with protein product	"glycogen-associated regulatory subunit of protein phosphatase-1", "protein phosphatase 1 regulatory subunit GM"	600917	"protein phosphatase 1, regulatory (inhibitor) subunit 3A (glycogen and sarcoplasmic reticulum binding subunit, skeletal muscle)", "protein phosphatase 1, regulatory (inhibitor) subunit 3A"	PPP1R3		7926294	Standard	NM_002711		Approved	GM	uc010ljy.1	Q16821	OTTHUMG00000156944	ENST00000284601.3:c.1179delA	7.37:g.113519968delT	ENSP00000284601:p.Lys393fs						p.K393fs	NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN			4	1247	-			393					A0AVQ2|A4D0T6|O43476|Q75LN8|Q7KYM8|Q86UI6	Frame_Shift_Del	DEL	ENST00000284601.3	37	c.1179delA	CCDS5759.1																																																																																				0.393	PPP1R3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346724.1	NM_002711		8	413						8	413	---	---	---	---	-	113519968	T	-	113519968	7	5	39	1	0	1	0	1	0	0	0	0	12371	1490	52	0	2193	0	PPP1R3A	7	113519968	Frame_Shift_Del	DEL	T	TCGA-CH-5789-01A-11D-1576-08	21372832	113519968	45618695	12	2138											
CHMP7	91782	broad.mit.edu	37	chr8	23114023	23114023	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaggtctctccagtcaatgaCgtagatgttggggtgtacca	10	11	12	8	1	2	2	1	1	1	1	4	2	3	2	2	3	1	3	2	3	4	3	rs563069776		TCGA-CH-5789-01A-11D-1576-08	TCGA-CH-5789-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68c5ec2-0875-4d77-b4b7-738d2b2f313c	ce3a5af9-17c9-4195-8da2-1bee4bac3cac	g.chr8:23114023C>T	ENST00000397677.1	+	5	1356	c.708C>T	c.(706-708)gaC>gaT	p.D236D	CHMP7_ENST00000313219.7_Silent_p.D236D	NM_152272.3	NP_689485.1	Q8WUX9	CHMP7_HUMAN	charged multivesicular body protein 7	236					endosomal transport (GO:0016197)|late endosome to vacuole transport (GO:0045324)|membrane organization (GO:0061024)|viral life cycle (GO:0019058)|viral process (GO:0016032)	cytosol (GO:0005829)|ESCRT III complex (GO:0000815)	protein transporter activity (GO:0008565)	p.D236D(1)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	11		Prostate(55;0.0513)		Colorectal(74;0.0155)|COAD - Colon adenocarcinoma(73;0.0632)		CAGTCAATGACGTAGATGTTG	0.502													C|||	1	0.000199681	0	0	5008	,	,		16316	0		0	False		,,,				2504	0.001					ENST00000397677.1																			1	Substitution - coding silent(1)	p.D236D(1)	prostate(1)	breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	11						c.(706-708)gaC>gaT		charged multivesicular body protein 7							255	235	241					8																	23114023		2203	4300	6503	SO:0001819	synonymous_variant	91782				cellular membrane organization|late endosome to vacuole transport	cytosol|ESCRT III complex	protein transporter activity	g.chr8:23114023C>T	BC019110	CCDS6040.1	8p21.2	2011-09-21	2011-09-21		ENSG00000147457	ENSG00000147457		"Charged multivesicular body proteins"	28439	protein-coding gene	gene with protein product		611130	"CHMP family, member 7"			16856878	Standard	NM_152272		Approved	MGC29816	uc003xdc.2	Q8WUX9	OTTHUMG00000131785	ENST00000397677.1:c.708C>T	8.37:g.23114023C>T						CHMP7_ENST00000313219.7_Silent_p.D236D	p.D236D	NM_152272.3	NP_689485.1	Q8WUX9	CHMP7_HUMAN		Colorectal(74;0.0155)|COAD - Colon adenocarcinoma(73;0.0632)	5	1356	+		Prostate(55;0.0513)	236					B2RDT3|B4DKJ6|D3DSS1|Q8NDM1|Q9BT50	Silent	SNP	ENST00000397677.1	37	c.708C>T	CCDS6040.1																																																																																				0.502	CHMP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254717.1	NM_152272		5	299	0	0	0	1	0	5	299					T	23114023	C	T	23114023	2	4	39	1	0	0	0	0	0	0	0	1	3361	535	19	1		1	CHMP7	8	23114023	Silent	SNP	C	TCGA-CH-5789-01A-11D-1576-08		23114023	123249999	13	2139											
FAM75C1	441452	broad.mit.edu	37	chr9	90535283	90535283	+	RNA	SNP	T	T	C																															ccggtcctctcatgagcctaTggaagatgctgctcccattg																										TCGA-CH-5789-01A-11D-1576-08	TCGA-CH-5789-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68c5ec2-0875-4d77-b4b7-738d2b2f313c	ce3a5af9-17c9-4195-8da2-1bee4bac3cac	g.chr9:90535283T>C	ENST00000602681.1	+	0	1187							P0DKV0	S31C1_HUMAN	SPATA31 subfamily C, member 1						cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											CATGAGCCTATGGAAGATGCT	0.582																																						ENST00000602681.1																			0																				108	115	113					9																	90535283		692	1591	2283			0							g.chr9:90535283T>C	AK093374		9q22.1	2014-03-18	2012-10-12	2012-10-12	ENSG00000230246	ENSG00000230246			27846	other	unknown			"family with sequence similarity 75, member C1"	FAM75C1			Standard	NM_001145124		Approved	FLJ36055	uc010mqi.3	P0DKV0	OTTHUMG00000020160		9.37:g.90535283T>C														0	1187	+									RNA	SNP	ENST00000602681.1	37																																																																																						0.582	SPATA31C1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000467313.1	NM_001145124		5	298	0	0	0	1	0	5	298					C	90535283	T	C	90535283	1	2	39	0	1	0	0	0	0	0	0	0	5623	1464	51	4		4	FAM75C1	9	90535283	RNA	SNP	T	TCGA-CH-5789-01A-11D-1576-08		90535283	50678148	14	2140	13	2									
FAM75C1	441452	broad.mit.edu	37	chr9	90535290	90535290	+	RNA	SNP	T	T	C																															tctcatgagcctatggaagaTgctgctcccattgtctcccc																								rs55701842		TCGA-CH-5789-01A-11D-1576-08	TCGA-CH-5789-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68c5ec2-0875-4d77-b4b7-738d2b2f313c	ce3a5af9-17c9-4195-8da2-1bee4bac3cac	g.chr9:90535290T>C	ENST00000602681.1	+	0	1194							P0DKV0	S31C1_HUMAN	SPATA31 subfamily C, member 1						cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											CTATGGAAGATGCTGCTCCCA	0.592																																						ENST00000602681.1																			0																				108	116	114					9																	90535290		692	1591	2283			0							g.chr9:90535290T>C	AK093374		9q22.1	2014-03-18	2012-10-12	2012-10-12	ENSG00000230246	ENSG00000230246			27846	other	unknown			"family with sequence similarity 75, member C1"	FAM75C1			Standard	NM_001145124		Approved	FLJ36055	uc010mqi.3	P0DKV0	OTTHUMG00000020160		9.37:g.90535290T>C														0	1194	+									RNA	SNP	ENST00000602681.1	37																																																																																						0.592	SPATA31C1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000467313.1	NM_001145124		5	302	0	0	0	1	0	5	302					C	90535290	T	C	90535290	1	2	39	0	1	0	0	0	0	0	0	0	5623	1461	51	4		4	FAM75C1	9	90535290	RNA	SNP	T	TCGA-CH-5789-01A-11D-1576-08	7	90535290	50678141	15	2141	13	2									
PCDH15	65217	broad.mit.edu	37	chr10	56287578	56287578	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaaactcacttaccattccGactttcttcatcaatagcaa	15	12	2	12	1	4	0	3	0	1	0	5	1	5	0	2	0	3	1	2	0	6	5			TCGA-CH-5789-01A-11D-1576-08	TCGA-CH-5789-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68c5ec2-0875-4d77-b4b7-738d2b2f313c	ce3a5af9-17c9-4195-8da2-1bee4bac3cac	g.chr10:56287578G>T	ENST00000320301.6	-	3	545	c.151C>A	c.(151-153)Cgg>Agg	p.R51R	PCDH15_ENST00000395440.1_Silent_p.R51R|PCDH15_ENST00000409834.1_Intron|PCDH15_ENST00000414778.1_Silent_p.R56R|PCDH15_ENST00000361849.3_Silent_p.R51R|PCDH15_ENST00000373955.1_Silent_p.R51R|PCDH15_ENST00000395445.1_Silent_p.R51R|PCDH15_ENST00000373965.2_Silent_p.R51R|PCDH15_ENST00000437009.1_Silent_p.R51R|PCDH15_ENST00000395446.1_Silent_p.R51R|PCDH15_ENST00000395432.2_Silent_p.R51R|RP11-257I14.1_ENST00000422842.1_RNA|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000395438.1_Silent_p.R51R|PCDH15_ENST00000395430.1_Silent_p.R51R|PCDH15_ENST00000395433.1_Intron|PCDH15_ENST00000395442.1_Silent_p.R51R	NM_033056.3	NP_149045.3	Q96QU1	PCD15_HUMAN	protocadherin-related 15	51	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	calcium ion binding (GO:0005509)	p.R51R(3)|p.R56R(2)		NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				TTACCATTCCGACTTTCTTCA	0.343										HNSCC(58;0.16)																												ENST00000373965.2																			5	Substitution - coding silent(5)	p.R51R(3)|p.R56R(2)	prostate(5)	NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237						c.(151-153)Cgg>Agg		protocadherin-related 15							90	90	90					10																	56287578		2203	4300	6503	SO:0001819	synonymous_variant	65217				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding	g.chr10:56287578G>T	AY029205	CCDS7248.1, CCDS44400.1, CCDS44401.1, CCDS44403.1, CCDS44404.1, CCDS73134.1, CCDS73135.1, CCDS73136.1, CCDS73137.1, CCDS73138.1	10q21.1	2013-01-08	2010-01-25		ENSG00000150275	ENSG00000150275		"Cadherins / Cadherin-related"	14674	protein-coding gene	gene with protein product	"cadherin-related family member 15"	605514	"deafness, autosomal recessive 23", "protocadherin 15"	USH1F, DFNB23		11398101, 14570705	Standard	NM_033056		Approved	CDHR15	uc010qhy.1	Q96QU1	OTTHUMG00000018259	ENST00000320301.6:c.151C>A	10.37:g.56287578G>T		HNSCC(58;0.16)				RP11-257I14.1_ENST00000422842.1_RNA|PCDH15_ENST00000414778.1_Silent_p.R56R|PCDH15_ENST00000395442.1_Silent_p.R51R|PCDH15_ENST00000395433.1_Intron|PCDH15_ENST00000395445.1_Silent_p.R51R|PCDH15_ENST00000320301.6_Silent_p.R51R|PCDH15_ENST00000395446.1_Silent_p.R51R|PCDH15_ENST00000409834.1_Intron|PCDH15_ENST00000437009.1_Silent_p.R51R|PCDH15_ENST00000361849.3_Silent_p.R51R|PCDH15_ENST00000395430.1_Silent_p.R51R|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000395432.2_Silent_p.R51R|PCDH15_ENST00000395440.1_Silent_p.R51R|PCDH15_ENST00000395438.1_Silent_p.R51R|PCDH15_ENST00000373955.1_Silent_p.R51R	p.R51R	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN			3	545	-		Melanoma(3;0.117)|Lung SC(717;0.238)	51			Cadherin 1.		A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Silent	SNP	ENST00000320301.6	37	c.151C>A	CCDS7248.1																																																																																				0.343	PCDH15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000048121.2	NM_033056		6	123	1	0	4.096e-09	1	4.9152e-09	6	123					T	56287578	G	T	56287578	2	4	39	1	0	0	0	0	0	0	0	1	11511	1057	37	5		5	PCDH15	10	56287578	Silent	SNP	G	TCGA-CH-5789-01A-11D-1576-08		56287578	79247169	16	2142											
IL10RA	3587	broad.mit.edu	37	chr11	117864125	117864125	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaggtgccgggaaacttcacGgtatggggttccccaaggcc	9	7	14	11	2	1	0	1	0	0	0	2	1	2	1	4	6	2	2	4	6	4	3			TCGA-CH-5789-01A-11D-1576-08	TCGA-CH-5789-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68c5ec2-0875-4d77-b4b7-738d2b2f313c	ce3a5af9-17c9-4195-8da2-1bee4bac3cac	g.chr11:117864125G>A	ENST00000227752.3	+	4	657	c.537G>A	c.(535-537)acG>acA	p.T179T	IL10RA_ENST00000545409.1_Splice_Site_p.T30T|IL10RA_ENST00000541785.1_Splice_Site_p.T159T|IL10RA_ENST00000533700.1_3'UTR	NM_001558.3	NP_001549.2	Q13651	I10R1_HUMAN	interleukin 10 receptor, alpha	179					cytokine-mediated signaling pathway (GO:0019221)|response to lipopolysaccharide (GO:0032496)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	interleukin-10 receptor activity (GO:0004920)|receptor activity (GO:0004872)|signal transducer activity (GO:0004871)	p.T179T(1)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(2)|prostate(1)	19	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.07e-05)|Epithelial(105;0.00108)		GAAACTTCACGGTATGGGGTT	0.562																																						ENST00000227752.3																			1	Substitution - coding silent(1)	p.T179T(1)	prostate(1)	NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(2)|prostate(1)	19						c.e4+1		interleukin 10 receptor, alpha							59	55	57					11																	117864125		2200	4296	6496	SO:0001630	splice_region_variant	3587					integral to membrane|plasma membrane	interleukin-10 receptor activity	g.chr11:117864125G>A	U00672	CCDS8388.1	11q23	2014-09-17			ENSG00000110324	ENSG00000110324		"Interleukins and interleukin receptors", "CD molecules"	5964	protein-coding gene	gene with protein product		146933		IL10R		8120391	Standard	NR_026691		Approved	HIL-10R, CDW210A, CD210a, CD210	uc001prv.3	Q13651	OTTHUMG00000166523	ENST00000227752.3:c.537+1G>A	11.37:g.117864125G>A						IL10RA_ENST00000545409.1_Splice_Site_p.T30_splice|IL10RA_ENST00000533700.1_3'UTR|IL10RA_ENST00000541785.1_Splice_Site_p.T159_splice	p.T179_splice	NM_001558.3	NP_001549.2	Q13651	I10R1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.07e-05)|Epithelial(105;0.00108)	4	657	+	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)	179					A8K6I0|B0YJ27	Splice_Site	SNP	ENST00000227752.3	37	c.537_splice	CCDS8388.1																																																																																				0.562	IL10RA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390167.1		Silent	3	83	0	0	0	1	0	3	83					A	117864125	G	A	117864125	5	1	39	1	0	0	0	0	0	0	1	0	7620	1130	39	2	551	2	IL10RA	11	117864125	Splice_Site	SNP	G	TCGA-CH-5789-01A-11D-1576-08		117864125	17142391	17	2143											
CPSF2	53981	broad.mit.edu	37	chr14	92608697	92608697	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggagttttctaagtcccaggTttgttctcatgttgtcactt	6	18	9	8	0	3	0	2	0	2	0	5	1	4	1	1	2	0	4	1	2	1	7			TCGA-CH-5789-01A-11D-1576-08	TCGA-CH-5789-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68c5ec2-0875-4d77-b4b7-738d2b2f313c	ce3a5af9-17c9-4195-8da2-1bee4bac3cac	g.chr14:92608697T>C	ENST00000298875.4	+	8	1134		c.e8+2			NM_017437.2	NP_059133.1	Q9P2I0	CPSF2_HUMAN	cleavage and polyadenylation specific factor 2, 100kDa						gene expression (GO:0010467)|histone mRNA 3'-end processing (GO:0006398)|mRNA 3'-end processing (GO:0031124)|mRNA cleavage (GO:0006379)|mRNA export from nucleus (GO:0006406)|mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	membrane (GO:0016020)|mRNA cleavage and polyadenylation specificity factor complex (GO:0005847)|nucleoplasm (GO:0005654)	RNA binding (GO:0003723)	p.?(1)		breast(2)|cervix(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	24		all_cancers(154;0.0766)		COAD - Colon adenocarcinoma(157;0.222)		AAGTCCCAGGTTTGTTCTCAT	0.383																																					Ovarian(78;28 1788 18702 44111)	ENST00000298875.4																			1	Unknown(1)	p.?(1)	prostate(1)	breast(2)|cervix(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	24						c.e8+2		cleavage and polyadenylation specific factor 2, 100kDa							188	182	184					14																	92608697		2203	4300	6503	SO:0001630	splice_region_variant	53981				histone mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage and polyadenylation specificity factor complex	hydrolase activity|protein binding|RNA binding	g.chr14:92608697T>C	AB037788	CCDS9902.1	14q31.1	2008-07-28	2002-08-29			ENSG00000165934			2325	protein-coding gene	gene with protein product		606028	"cleavage and polyadenylation specific factor 2, 100kD subunit"			7969155, 11124543	Standard	NM_017437		Approved	KIAA1367	uc001yah.2	Q9P2I0		ENST00000298875.4:c.849+2T>C	14.37:g.92608697T>C								NM_017437.2	NP_059133.1	Q9P2I0	CPSF2_HUMAN		COAD - Colon adenocarcinoma(157;0.222)	8	1134	+		all_cancers(154;0.0766)						B3KME1|Q6NSJ1|Q9H3W7	Splice_Site	SNP	ENST00000298875.4	37		CCDS9902.1	.	.	.	.	.	.	.	.	.	.	T	25.6	4.653517	0.88056	.	.	ENSG00000165934	ENST00000298875	.	.	.	5.5	5.5	0.81552	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.6093	0.76704	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	CPSF2	91678450	1.000000	0.71417	0.999000	0.59377	0.988000	0.76386	7.942000	0.87708	2.082000	0.62665	0.460000	0.39030	.		0.383	CPSF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412123.1		Intron	5	286	0	0	0	1	0	5	286					C	92608697	T	C	92608697	5	2	39	1	0	0	0	0	0	0	1	0	3825	1739	60	4	873	4	CPSF2	14	92608697	Splice_Site	SNP	T	TCGA-CH-5789-01A-11D-1576-08		92608697	14740843	18	2144											
CSPG4	1464	broad.mit.edu	37	chr15	75980335	75980335	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggccacatggaagatccggCtgatggtctgcacaggggcg	8	6	17	10	2	1	2	0	1	1	1	2	3	2	3	2	6	1	2	2	6	1	0			TCGA-CH-5789-01A-11D-1576-08	TCGA-CH-5789-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68c5ec2-0875-4d77-b4b7-738d2b2f313c	ce3a5af9-17c9-4195-8da2-1bee4bac3cac	g.chr15:75980335C>A	ENST00000308508.5	-	3	3163	c.3071G>T	c.(3070-3072)aGc>aTc	p.S1024I		NM_001897.4	NP_001888.2	Q6UVK1	CSPG4_HUMAN	chondroitin sulfate proteoglycan 4	1024	Gly/Ser-rich (glycosaminoglycan attachment domain).|Interaction with COL5A1. {ECO:0000250}.|Interaction with COL6A2. {ECO:0000250}.				activation of MAPK activity (GO:0000187)|angiogenesis (GO:0001525)|carbohydrate metabolic process (GO:0005975)|cell proliferation (GO:0008283)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|intracellular signal transduction (GO:0035556)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|small molecule metabolic process (GO:0044281)|tissue remodeling (GO:0048771)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell projection (GO:0042995)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)	protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)	p.S1024I(1)		breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4)	48						GAAGATCCGGCTGATGGTCTG	0.657																																						ENST00000308508.5																			1	Substitution - Missense(1)	p.S1024I(1)	prostate(1)	breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4)	48						c.(3070-3072)aGc>aTc		chondroitin sulfate proteoglycan 4							39	44	42					15																	75980335		2197	4291	6488	SO:0001583	missense	1464				angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling	apical plasma membrane|cell surface|integral to plasma membrane|intracellular|lamellipodium membrane	protein kinase binding|signal transducer activity	g.chr15:75980335C>A	X96753, AY359468	CCDS10284.1	15q24.2	2010-04-19	2007-02-16		ENSG00000173546	ENSG00000173546		"Proteoglycans / Cell surface : Other"	2466	protein-coding gene	gene with protein product	"melanoma-associated chondroitin sulfate proteoglycan"	601172	"chondroitin sulfate proteoglycan 4 (melanoma-associated)"			8790396, 16407841	Standard	NM_001897		Approved	MCSPG, MEL-CSPG, MSK16, NG2, MCSP, HMW-MAA	uc002baw.3	Q6UVK1	OTTHUMG00000142836	ENST00000308508.5:c.3071G>T	15.37:g.75980335C>A	ENSP00000312506:p.Ser1024Ile						p.S1024I	NM_001897.4	NP_001888.2	Q6UVK1	CSPG4_HUMAN			3	3163	-			1024			Gly/Ser-rich (glycosaminoglycan attachment domain).|Interaction with COL5A1 (By similarity).|Interaction with COL6A2 (By similarity).		D3DW77|Q92675	Missense_Mutation	SNP	ENST00000308508.5	37	c.3071G>T	CCDS10284.1	.	.	.	.	.	.	.	.	.	.	.	14.17	2.454869	0.43634	.	.	ENSG00000173546	ENST00000308508	T	0.50277	0.75	4.89	3.0	0.34707	.	0.234980	0.38381	N	0.001719	T	0.36358	0.0964	L	0.44542	1.39	0.33411	D	0.578699	B	0.33448	0.412	B	0.34722	0.188	T	0.51156	-0.8741	10	0.72032	D	0.01	.	5.314	0.15845	0.0:0.6173:0.0:0.3827	.	1024	Q6UVK1	CSPG4_HUMAN	I	1024	ENSP00000312506:S1024I	ENSP00000312506:S1024I	S	-	2	0	CSPG4	73767390	1.000000	0.71417	0.960000	0.40013	0.984000	0.73092	2.661000	0.46758	1.057000	0.40506	0.555000	0.69702	AGC		0.657	CSPG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286472.1	NM_001897		4	118	1	0	1	1	1	4	118					A	75980335	C	A	75980335	3	1	39	1	0	0	0	0	1	0	0	0	3960	797	28	5	3929	5	CSPG4	15	75980335	Missense_Mutation	SNP	C	TCGA-CH-5789-01A-11D-1576-08		75980335	26551057	19	2145											
MUC16	94025	broad.mit.edu	37	chr19	9075833	9075833	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cttggggttgatttttctttCtcattccaggagtcagatgt	6	18	10	7	0	3	2	2	1	2	1	5	3	4	3	1	3	0	1	1	3	0	6			TCGA-CH-5789-01A-11D-1576-08	TCGA-CH-5789-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68c5ec2-0875-4d77-b4b7-738d2b2f313c	ce3a5af9-17c9-4195-8da2-1bee4bac3cac	g.chr19:9075833C>T	ENST00000397910.4	-	3	11816	c.11613G>A	c.(11611-11613)gaG>gaA	p.E3871E		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	3872	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)		p.E3871E(2)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						ATTTTTCTTTCTCATTCCAGG	0.448																																						ENST00000397910.4																			2	Substitution - coding silent(2)	p.E3871E(2)	prostate(2)	NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(11611-11613)gaG>gaA		mucin 16, cell surface associated							125	114	117					19																	9075833		2020	4195	6215	SO:0001819	synonymous_variant	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9075833C>T	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.11613G>A	19.37:g.9075833C>T							p.E3871E	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			3	11816	-			3872			Thr-rich.		Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	c.11613G>A	CCDS54212.1																																																																																				0.448	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		8	100	0	0	0	1	0	8	100					T	9075833	C	T	9075833	2	4	39	1	0	0	0	0	0	0	0	1	9973	912	32	3		3	MUC16	19	9075833	Silent	SNP	C	TCGA-CH-5789-01A-11D-1576-08		9075833	50053150	20	2146											
PBX4	80714	broad.mit.edu	37	chr19	19675795	19675795	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccctgggaccccaacttccGtggtatccacagccgtttta	7	11	8	15	2	0	0	0	0	0	0	3	1	3	1	6	2	2	2	6	2	3	4	rs139542458		TCGA-CH-5789-01A-11D-1576-08	TCGA-CH-5789-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68c5ec2-0875-4d77-b4b7-738d2b2f313c	ce3a5af9-17c9-4195-8da2-1bee4bac3cac	g.chr19:19675795G>A	ENST00000251203.9	-	6	1158	c.872C>T	c.(871-873)aCg>aTg	p.T291M		NM_025245.2	NP_079521.1	Q9BYU1	PBX4_HUMAN	pre-B-cell leukemia homeobox 4	291					positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)|XY body (GO:0001741)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.T291M(1)		large_intestine(1)|lung(4)|ovary(1)|prostate(3)	9						CCCAACTTCCGTGGTATCCAC	0.527																																						ENST00000251203.8																			1	Substitution - Missense(1)	p.T291M(1)	prostate(1)	large_intestine(1)|lung(4)|ovary(1)|prostate(3)	9						c.(871-873)aCg>aTg		pre-B-cell leukemia homeobox 4		G	MET/THR	1,4405	2.1+/-5.4	0,1,2202	253	255	254		872	3.8	0	19	dbSNP_134	254	0,8600		0,0,4300	no	missense	PBX4	NM_025245.2	81	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	291/375	19675795	1,13005	2203	4300	6503	SO:0001583	missense	80714						sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr19:19675795G>A	AJ300182	CCDS12406.1	19p13.11	2014-09-11	2007-01-30		ENSG00000105717			"Homeoboxes / TALE class"	13403	protein-coding gene	gene with protein product		608127	"pre-B-cell leukemia transcription factor 4"				Standard	NM_025245		Approved		uc002nmy.3	Q9BYU1	OTTHUMG00000172310	ENST00000251203.9:c.872C>T	19.37:g.19675795G>A	ENSP00000251203:p.Thr291Met						p.T291M	NM_025245.2	NP_079521.1	Q9BYU1	PBX4_HUMAN			6	1158	-			291					A5D8Y0|B3KUK9	Missense_Mutation	SNP	ENST00000251203.9	37	c.872C>T	CCDS12406.1	.	.	.	.	.	.	.	.	.	.	G	18.16	3.561578	0.65538	2.27E-4	0.0	ENSG00000105717	ENST00000251203	D	0.90504	-2.68	3.75	3.75	0.43078	.	0.427784	0.23565	N	0.046814	D	0.92093	0.7494	M	0.68317	2.08	0.39621	D	0.970037	D	0.76494	0.999	P	0.54815	0.761	D	0.92172	0.5744	10	0.42905	T	0.14	-12.2147	13.1613	0.59547	0.0:0.0:1.0:0.0	.	291	Q9BYU1	PBX4_HUMAN	M	291	ENSP00000251203:T291M	ENSP00000251203:T291M	T	-	2	0	PBX4	19536795	1.000000	0.71417	0.008000	0.14137	0.041000	0.13682	6.457000	0.73505	1.953000	0.56701	0.505000	0.49811	ACG		0.527	PBX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417784.6			9	377	0	0	0	1	0	9	377					A	19675795	G	A	19675795	3	1	39	1	0	0	0	0	1	0	0	0	11495	1145	40	1	264	1	PBX4	19	19675795	Missense_Mutation	SNP	G	TCGA-CH-5789-01A-11D-1576-08	10599962	19675795	39453188	21	2147											
NSFL1C	55968	broad.mit.edu	37	chr20	1433675	1433675	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	caggagggctttttcactcaCcctctgcggatagactccag	8	10	10	13	1	3	1	2	0	1	1	4	3	4	3	2	3	1	1	2	3	1	3			TCGA-CH-5789-01A-11D-1576-08	TCGA-CH-5789-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68c5ec2-0875-4d77-b4b7-738d2b2f313c	ce3a5af9-17c9-4195-8da2-1bee4bac3cac	g.chr20:1433675C>T	ENST00000216879.4	-	6	1515		c.e6+1		NSFL1C_ENST00000353088.2_Splice_Site|NSFL1C_ENST00000381658.4_Splice_Site|NSFL1C_ENST00000461211.1_Splice_Site|NSFL1C_ENST00000350991.4_Splice_Site|NSFL1C_ENST00000476071.1_Splice_Site	NM_016143.4	NP_057227.2	Q9UNZ2	NSF1C_HUMAN	NSFL1 (p97) cofactor (p47)							chromosome (GO:0005694)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)	p.?(1)		breast(1)|large_intestine(5)|lung(6)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	16						TTTTCACTCACCCTCTGCGGA	0.453																																						ENST00000216879.4																			1	Unknown(1)	p.?(1)	prostate(1)	breast(1)|large_intestine(5)|lung(6)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	16						c.e6+1		NSFL1 (p97) cofactor (p47)							176	165	169					20																	1433675		2203	4300	6503	SO:0001630	splice_region_variant	55968					chromosome|Golgi stack|nucleus	lipid binding|protein binding	g.chr20:1433675C>T	AF112211	CCDS13015.1, CCDS13016.1, CCDS56175.1	20p13	2011-06-28			ENSG00000088833	ENSG00000088833		"UBX domain containing"	15912	protein-coding gene	gene with protein product	"SHP1 homolog (S. cerevisiae)", "UBX domain protein 2C"	606610				11042152	Standard	NM_016143		Approved	dJ776F14.1, p47, UBXD10, UBX1, UBXN2C	uc002wfc.3	Q9UNZ2	OTTHUMG00000031665	ENST00000216879.4:c.647+1G>A	20.37:g.1433675C>T						NSFL1C_ENST00000350991.4_Splice_Site|NSFL1C_ENST00000476071.1_Splice_Site|NSFL1C_ENST00000353088.2_Splice_Site|NSFL1C_ENST00000381658.4_Splice_Site|NSFL1C_ENST00000461211.1_Splice_Site		NM_016143.4	NP_057227.2	Q9UNZ2	NSF1C_HUMAN			6	1515	-								A2A2L1|B2RD74|Q5JXA4|Q5JXA5|Q7Z533|Q9H102|Q9NVL9|Q9UI06	Splice_Site	SNP	ENST00000216879.4	37		CCDS13015.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657632	0.88154	.	.	ENSG00000088833	ENST00000353088;ENST00000476071;ENST00000216879;ENST00000381658;ENST00000350991	.	.	.	5.21	5.21	0.72293	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.5459	0.87861	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	NSFL1C	1381675	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	5.830000	0.69324	2.890000	0.99128	0.650000	0.86243	.		0.453	NSFL1C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077525.2	NM_016143	Intron	7	354	0	0	0	1	0	7	354					T	1433675	C	T	1433675	5	4	39	1	0	0	0	0	0	0	1	0	10672	521	18	3	480	3	NSFL1C	20	1433675	Splice_Site	SNP	C	TCGA-CH-5789-01A-11D-1576-08		1433675	61591845	22	2148											
RAE1	8480	broad.mit.edu	37	chr20	55948583	55948583	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gaacaagcctactggttttgCcctgggaagtatcgagggga	10	9	14	8	1	0	0	0	0	0	0	1	4	0	2	2	4	4	2	2	4	5	4			TCGA-CH-5789-01A-11D-1576-08	TCGA-CH-5789-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68c5ec2-0875-4d77-b4b7-738d2b2f313c	ce3a5af9-17c9-4195-8da2-1bee4bac3cac	g.chr20:55948583C>T	ENST00000395841.2	+	9	1115	c.695C>T	c.(694-696)gCc>gTc	p.A232V	RAE1_ENST00000371242.2_Missense_Mutation_p.A232V|RAE1_ENST00000527947.1_Missense_Mutation_p.A232V|RAE1_ENST00000395840.2_Missense_Mutation_p.A232V	NM_003610.3	NP_003601.1	P78406	RAE1L_HUMAN	ribonucleic acid export 1	232					carbohydrate metabolic process (GO:0005975)|cellular response to organic cyclic compound (GO:0071407)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA export from nucleus (GO:0006406)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nuclear envelope (GO:0005635)|nuclear outer membrane (GO:0005640)|nuclear pore (GO:0005643)|nucleolus (GO:0005730)|nucleus (GO:0005634)	microtubule binding (GO:0008017)|RNA binding (GO:0003723)	p.A232V(1)		breast(1)|endometrium(5)|large_intestine(4)|lung(6)|prostate(3)|skin(2)	21	Lung NSC(12;0.00263)|all_lung(29;0.00828)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(4;3.7e-14)|Epithelial(14;1.07e-09)|all cancers(14;1.11e-08)			ACTGGTTTTGCCCTGGGAAGT	0.398																																						ENST00000395841.2																			1	Substitution - Missense(1)	p.A232V(1)	prostate(1)	breast(1)|endometrium(5)|large_intestine(4)|lung(6)|prostate(3)|skin(2)	21						c.(694-696)gCc>gTc		ribonucleic acid export 1							119	119	119					20																	55948583		2203	4300	6503	SO:0001583	missense	8480				carbohydrate metabolic process|glucose transport|mRNA export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytoplasm|cytoskeleton|nuclear outer membrane|nuclear pore	microtubule binding|RNA binding	g.chr20:55948583C>T	U84720	CCDS13458.1	20q13.31	2013-08-28	2013-08-28		ENSG00000101146	ENSG00000101146		"WD repeat domain containing"	9828	protein-coding gene	gene with protein product		603343	"RAE1 (RNA export 1, S.pombe) homolog", "RAE1 RNA export 1 homolog (S. pombe)"			9370289, 9256445	Standard	XM_005260582		Approved	Mnrp41	uc002xyi.3	P78406	OTTHUMG00000032819	ENST00000395841.2:c.695C>T	20.37:g.55948583C>T	ENSP00000379182:p.Ala232Val					RAE1_ENST00000395840.2_Missense_Mutation_p.A232V|RAE1_ENST00000371242.2_Missense_Mutation_p.A232V|RAE1_ENST00000527947.1_Missense_Mutation_p.A232V	p.A232V	NM_003610.3	NP_003601.1	P78406	RAE1L_HUMAN	BRCA - Breast invasive adenocarcinoma(4;3.7e-14)|Epithelial(14;1.07e-09)|all cancers(14;1.11e-08)		9	1115	+	Lung NSC(12;0.00263)|all_lung(29;0.00828)|Melanoma(10;0.242)		232					A8K882|O15306|Q3SYL7|Q5TCH8|Q6V708|Q9H100|Q9NQM6	Missense_Mutation	SNP	ENST00000395841.2	37	c.695C>T	CCDS13458.1	.	.	.	.	.	.	.	.	.	.	C	33	5.276651	0.95459	.	.	ENSG00000101146	ENST00000395841;ENST00000371242;ENST00000527947;ENST00000395840	T;T;T;T	0.72051	-0.62;-0.62;-0.62;-0.62	6.02	6.02	0.97574	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.100190	0.64402	D	0.000002	D	0.82407	0.5030	M	0.63843	1.955	0.80722	D	1	D;P;P	0.76494	0.999;0.846;0.846	D;B;B	0.72338	0.977;0.162;0.162	T	0.79262	-0.1876	10	0.36615	T	0.2	-28.5582	18.7213	0.91694	0.0:1.0:0.0:0.0	.	232;232;232	E9PQ57;A8K882;P78406	.;.;RAE1L_HUMAN	V	232	ENSP00000379182:A232V;ENSP00000360286:A232V;ENSP00000432609:A232V;ENSP00000379181:A232V	ENSP00000360286:A232V	A	+	2	0	RAE1	55381990	1.000000	0.71417	0.999000	0.59377	0.979000	0.70002	7.270000	0.78493	2.865000	0.98341	0.655000	0.94253	GCC		0.398	RAE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079842.2			4	137	0	0	0	1	0	4	137					T	55948583	C	T	55948583	3	4	39	1	0	0	0	0	1	0	0	0	12998	739	26	3	725	3	RAE1	20	55948583	Missense_Mutation	SNP	C	TCGA-CH-5789-01A-11D-1576-08	54514908	55948583	7076937	23	2149											
C21orf70	85395	broad.mit.edu	37	chr21	46387079	46387079	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ctggggctcgaggctggcagCcggcgccaagcccgcaggtg	5	4	18	14	4	0	0	0	0	0	0	1	1	0	0	3	6	2	4	3	6	1	0			TCGA-CH-5789-01A-11D-1576-08	TCGA-CH-5789-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68c5ec2-0875-4d77-b4b7-738d2b2f313c	ce3a5af9-17c9-4195-8da2-1bee4bac3cac	g.chr21:46387079C>A	ENST00000291634.6	+	4	531	c.483C>A	c.(481-483)agC>agA	p.S161R	FAM207A_ENST00000479127.1_3'UTR|FAM207A_ENST00000397826.3_Missense_Mutation_p.S146R	NM_058190.2	NP_478070.1	Q9NSI2	F207A_HUMAN	family with sequence similarity 207, member A	161								p.S161R(1)									AGGCTGGCAGCCGGCGCCAAG	0.716																																						ENST00000291634.6																			1	Substitution - Missense(1)	p.S161R(1)	prostate(1)								c.(481-483)agC>agA		family with sequence similarity 207, member A							14	19	17					21																	46387079		2185	4274	6459	SO:0001583	missense	85395							g.chr21:46387079C>A		CCDS13718.1	21q22.3	2011-08-15	2011-08-15	2011-08-15	ENSG00000160256	ENSG00000160256			15811	protein-coding gene	gene with protein product			"chromosome 21 open reading frame 70"	C21orf70			Standard	NM_058190		Approved	PRED56	uc002zgl.3	Q9NSI2	OTTHUMG00000090293	ENST00000291634.6:c.483C>A	21.37:g.46387079C>A	ENSP00000291634:p.Ser161Arg					FAM207A_ENST00000479127.1_3'UTR|FAM207A_ENST00000397826.3_Missense_Mutation_p.S146R	p.S161R	NM_058190.2	NP_478070.1	Q9NSI2	CU070_HUMAN			4	531	+			161						Missense_Mutation	SNP	ENST00000291634.6	37	c.483C>A	CCDS13718.1	.	.	.	.	.	.	.	.	.	.	C	8.155	0.788297	0.16258	.	.	ENSG00000160256	ENST00000291634;ENST00000397826;ENST00000458015	T;T;T	0.44881	0.94;0.94;0.91	3.44	3.44	0.39384	.	0.895789	0.09616	N	0.778288	T	0.27384	0.0672	N	0.16307	0.4	0.09310	N	1	B;B	0.09022	0.001;0.002	B;B	0.11329	0.004;0.006	T	0.07966	-1.0745	10	0.22109	T	0.4	-0.0034	10.7055	0.45952	0.0:1.0:0.0:0.0	.	146;161	Q9NSI2-2;Q9NSI2	.;F207A_HUMAN	R	161;146;146	ENSP00000291634:S161R;ENSP00000380926:S146R;ENSP00000404964:S146R	ENSP00000291634:S161R	S	+	3	2	C21orf70	45211507	0.000000	0.05858	0.012000	0.15200	0.016000	0.09150	-1.732000	0.01851	2.205000	0.71048	0.563000	0.77884	AGC		0.716	FAM207A-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000206639.1	NM_058190		3	22	1	0	0.115264	1	0.12413	3	22					A	46387079	C	A	46387079	3	1	39	1	0	0	0	0	1	0	0	0	2133	738	26	5	497	5	C21orf70	21	46387079	Missense_Mutation	SNP	C	TCGA-CH-5789-01A-11D-1576-08		46387079	1742816	24	2150											
XRCC6	2547	broad.mit.edu	37	chr22	42057337	42057337	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tgtgttttgattttctagtgCccaaggttgaagcaatgaat	10	16	10	5	0	1	3	0	3	1	0	1	3	1	3	1	1	2	3	1	1	5	6			TCGA-CH-5789-01A-11D-1576-08	TCGA-CH-5789-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68c5ec2-0875-4d77-b4b7-738d2b2f313c	ce3a5af9-17c9-4195-8da2-1bee4bac3cac	g.chr22:42057337C>T	ENST00000359308.4	+	11	2180	c.1525C>T	c.(1525-1527)Ccc>Tcc	p.P509S	XRCC6_ENST00000360079.3_Missense_Mutation_p.P509S|XRCC6_ENST00000402580.3_Missense_Mutation_p.P468S|XRCC6_ENST00000428575.2_Missense_Mutation_p.P376S|XRCC6_ENST00000405506.1_Missense_Mutation_p.P459S|XRCC6_ENST00000405878.1_Missense_Mutation_p.P509S			P12956	XRCC6_HUMAN	X-ray repair complementing defective repair in Chinese hamster cells 6	509					brain development (GO:0007420)|cellular hyperosmotic salinity response (GO:0071475)|cellular response to X-ray (GO:0071481)|DNA duplex unwinding (GO:0032508)|DNA ligation (GO:0006266)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|establishment of integrated proviral latency (GO:0075713)|innate immune response (GO:0045087)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|telomere maintenance (GO:0000723)|transcription, DNA-templated (GO:0006351)|V(D)J recombination (GO:0033151)|viral process (GO:0016032)	cytosol (GO:0005829)|Ku70:Ku80 complex (GO:0043564)|membrane (GO:0016020)|nonhomologous end joining complex (GO:0070419)|nuclear telomere cap complex (GO:0000783)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	5'-deoxyribose-5-phosphate lyase activity (GO:0051575)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)|telomeric DNA binding (GO:0042162)|transcription regulatory region DNA binding (GO:0044212)	p.P509S(2)		central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	31						TTTTCTAGTGCCCAAGGTTGA	0.473								Non-homologous end-joining																														ENST00000359308.4																			2	Substitution - Missense(2)	p.P509S(2)	prostate(2)	central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	31						c.(1525-1527)Ccc>Tcc	Non-homologous end-joining	X-ray repair complementing defective repair in Chinese hamster cells 6							117	123	121					22																	42057337		2203	4300	6503	SO:0001583	missense	2547				DNA ligation|double-strand break repair via nonhomologous end joining|initiation of viral infection|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|provirus integration|telomere maintenance|transcription, DNA-dependent	DNA-dependent protein kinase-DNA ligase 4 complex|Ku70:Ku80 complex|membrane fraction|nuclear telomere cap complex|transcription factor complex	5'-deoxyribose-5-phosphate lyase activity|ATP binding|ATP-dependent DNA helicase activity|double-stranded DNA binding|protein C-terminus binding|transcription regulatory region DNA binding	g.chr22:42057337C>T	J04607	CCDS14021.1, CCDS74870.1, CCDS74871.1	22q13.2	2011-09-12	2008-07-31	2005-05-06	ENSG00000196419	ENSG00000196419			4055	protein-coding gene	gene with protein product	"Ku autoantigen, 70kDa"	152690	"thyroid autoantigen 70kD (Ku antigen)", "thyroid autoantigen 70kDa (Ku antigen)"	G22P1		9200330, 9223317	Standard	NM_001469		Approved	D22S731, D22S671, KU70, ML8	uc003bao.1	P12956	OTTHUMG00000151190	ENST00000359308.4:c.1525C>T	22.37:g.42057337C>T	ENSP00000352257:p.Pro509Ser					XRCC6_ENST00000402580.3_Missense_Mutation_p.P468S|XRCC6_ENST00000405506.1_Missense_Mutation_p.P459S|XRCC6_ENST00000405878.1_Missense_Mutation_p.P509S|XRCC6_ENST00000428575.2_Missense_Mutation_p.P376S|XRCC6_ENST00000360079.3_Missense_Mutation_p.P509S	p.P509S			P12956	XRCC6_HUMAN			11	2180	+			509					B1AHC8|Q6FG89|Q9UCQ2|Q9UCQ3	Missense_Mutation	SNP	ENST00000359308.4	37	c.1525C>T	CCDS14021.1	.	.	.	.	.	.	.	.	.	.	C	32	5.161147	0.94727	.	.	ENSG00000196419	ENST00000360079;ENST00000402580;ENST00000428575;ENST00000359308;ENST00000405878;ENST00000402409;ENST00000405506	T;T;T;T;T;T	0.49139	0.79;0.79;0.79;0.79;0.79;0.79	5.51	5.51	0.81932	Spen Paralogue and Orthologue SPOC, C-terminal-like (1);Ku70/Ku80 C-terminal arm (2);	0.000000	0.85682	D	0.000000	T	0.76793	0.4037	M	0.91872	3.25	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;0.998;1.0;0.999	T	0.81562	-0.0876	10	0.62326	D	0.03	-14.4088	19.4236	0.94732	0.0:1.0:0.0:0.0	.	459;509;468;509	B1AHC9;B1AHC7;B1AHC8;P12956	.;.;.;XRCC6_HUMAN	S	509;468;376;509;509;509;459	ENSP00000353192:P509S;ENSP00000384941:P468S;ENSP00000403679:P376S;ENSP00000352257:P509S;ENSP00000384257:P509S;ENSP00000384082:P459S	ENSP00000352257:P509S	P	+	1	0	XRCC6	40387283	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.190000	0.77755	2.573000	0.86826	0.650000	0.86243	CCC		0.473	XRCC6-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321688.1	NM_001469		7	250	0	0	0	1	0	7	250					T	42057337	C	T	42057337	3	4	39	1	0	0	0	0	1	0	0	0	17454	739	26	3	1567	3	XRCC6	22	42057337	Missense_Mutation	SNP	C	TCGA-CH-5789-01A-11D-1576-08		42057337	9247229	25	2151											
PLCH2	9651	broad.mit.edu	37	chr1	2415902	2415902	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgcaggaagcggacacggatGaccaccaagggacgctgggt	11	4	16	10	3	0	1	0	1	0	0	0	5	0	5	2	5	2	2	2	5	2	0			TCGA-CH-5790-01A-11D-1576-08	TCGA-CH-5790-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1730f32-f97d-49e7-beb7-593c8ca8a907	c66f09bd-db15-4633-aeba-4f579345c6d0	g.chr1:2415902G>A	ENST00000419816.2	+	5	935	c.661G>A	c.(661-663)Gac>Aac	p.D221N	PLCH2_ENST00000288766.5_Intron|PLCH2_ENST00000378488.3_Missense_Mutation_p.D221N|PLCH2_ENST00000378486.3_Missense_Mutation_p.D221N|PLCH2_ENST00000449969.1_Missense_Mutation_p.D194N			O75038	PLCH2_HUMAN	phospholipase C, eta 2	221	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.				inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|phosphatidylinositol metabolic process (GO:0046488)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871)	p.D221N(1)|p.D68N(1)		central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(3)|skin(1)	20	all_cancers(77;0.000161)|all_epithelial(69;5.98e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;7.32e-16)|all_lung(118;1.15e-06)|Lung NSC(185;6.26e-05)|Renal(390;0.00571)|Breast(487;0.00832)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;1.44e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.78e-23)|GBM - Glioblastoma multiforme(42;2.8e-08)|Colorectal(212;4.19e-05)|COAD - Colon adenocarcinoma(227;0.000195)|Kidney(185;0.00034)|BRCA - Breast invasive adenocarcinoma(365;0.00443)|KIRC - Kidney renal clear cell carcinoma(229;0.00548)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.2)		GGACACGGATGACCACCAAGG	0.597																																						ENST00000449969.1																			2	Substitution - Missense(2)	p.D221N(1)|p.D68N(1)	prostate(2)	central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(3)|skin(1)	20						c.(580-582)Gac>Aac		phospholipase C, eta 2							53	63	60					1																	2415902		2087	4212	6299	SO:0001583	missense	9651				intracellular signal transduction|lipid catabolic process	cytoplasm|plasma membrane	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr1:2415902G>A	AB007919	CCDS59959.1	1p36.32	2013-01-10	2006-03-16	2006-03-16	ENSG00000149527	ENSG00000149527	3.1.4.11	"EF-hand domain containing"	29037	protein-coding gene	gene with protein product		612836	"phospholipase C-like 4"	PLCL4		15899900	Standard	XM_006711054		Approved	KIAA0450, PLCeta2, RP3-395M20.1, PLC-eta2	uc001aji.1	O75038	OTTHUMG00000000719	ENST00000419816.2:c.661G>A	1.37:g.2415902G>A	ENSP00000389803:p.Asp221Asn					PLCH2_ENST00000419816.2_Missense_Mutation_p.D221N|PLCH2_ENST00000378486.3_Missense_Mutation_p.D221N|PLCH2_ENST00000378488.3_Missense_Mutation_p.D221N|PLCH2_ENST00000288766.5_Intron|PLCH2_ENST00000378483.2_Intron	p.D194N			O75038	PLCH2_HUMAN		Epithelial(90;1.44e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.78e-23)|GBM - Glioblastoma multiforme(42;2.8e-08)|Colorectal(212;4.19e-05)|COAD - Colon adenocarcinoma(227;0.000195)|Kidney(185;0.00034)|BRCA - Breast invasive adenocarcinoma(365;0.00443)|KIRC - Kidney renal clear cell carcinoma(229;0.00548)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.2)	5	741	+	all_cancers(77;0.000161)|all_epithelial(69;5.98e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;7.32e-16)|all_lung(118;1.15e-06)|Lung NSC(185;6.26e-05)|Renal(390;0.00571)|Breast(487;0.00832)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)	221			EF-hand 1.		A2VCM3|B9DI80|Q3LUA8|Q86XJ2|Q86XU1|Q86YU7|Q8TEH5|Q8WUS6	Missense_Mutation	SNP	ENST00000419816.2	37	c.580G>A		.	.	.	.	.	.	.	.	.	.	G	13.96	2.394111	0.42410	.	.	ENSG00000149527	ENST00000449969;ENST00000378486;ENST00000378488;ENST00000343889;ENST00000278878	T;T;T	0.24538	1.94;1.92;1.85	3.69	3.69	0.42338	EF-hand-like domain (1);	0.174254	0.48767	D	0.000173	T	0.28764	0.0713	N	0.11427	0.14	0.80722	D	1	P;P;D;P	0.63046	0.771;0.768;0.992;0.771	P;B;D;P	0.64042	0.449;0.418;0.921;0.549	T	0.27606	-1.0069	10	0.51188	T	0.08	.	14.6111	0.68517	0.0:0.0:1.0:0.0	.	68;9;194;221	B9DI81;B9DI82;O75038-2;O75038	.;.;.;PLCH2_HUMAN	N	194;221;221;68;9	ENSP00000397289:D194N;ENSP00000367747:D221N;ENSP00000367749:D221N	ENSP00000278878:D9N	D	+	1	0	PLCH2	2405762	1.000000	0.71417	0.962000	0.40283	0.232000	0.25224	6.330000	0.72925	1.918000	0.55548	0.561000	0.74099	GAC		0.597	PLCH2-009	KNOWN	non_canonical_conserved|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000467514.1	NM_014638		20	32	0	0	0	1	0	20	32					A	2415902	G	A	2415902	3	1	40	1	0	0	0	0	1	0	0	0	12038	1290	45	3	679	3	PLCH2	1	2415902	Missense_Mutation	SNP	G	TCGA-CH-5790-01A-11D-1576-08		2415902	246834719	1	2152											
AKNAD1	254268	broad.mit.edu	37	chr1	109369914	109369914	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccgtggccctttttctccaCgttttgcttcctaaaaaaag	8	15	6	12	2	1	0	0	0	1	0	4	0	3	0	4	1	1	2	4	1	4	6			TCGA-CH-5790-01A-11D-1576-08	TCGA-CH-5790-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1730f32-f97d-49e7-beb7-593c8ca8a907	c66f09bd-db15-4633-aeba-4f579345c6d0	g.chr1:109369914C>T	ENST00000370001.3	-	11	2117	c.1849G>A	c.(1849-1851)Gtg>Atg	p.V617M	AKNAD1_ENST00000369995.3_Missense_Mutation_p.V617M|AKNAD1_ENST00000369994.1_Missense_Mutation_p.V587M|AKNAD1_ENST00000357393.4_Missense_Mutation_p.V324M	NM_152763.4	NP_689976.2	Q5T1N1	AKND1_HUMAN	AKNA domain containing 1	617						cytoplasm (GO:0005737)		p.V617M(1)		breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|prostate(6)|skin(3)|stomach(2)	32						TTTTTCTCCACGTTTTGCTTC	0.383																																						ENST00000370001.3																			1	Substitution - Missense(1)	p.V617M(1)	prostate(1)	breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|prostate(6)|skin(3)|stomach(2)	32						c.(1849-1851)Gtg>Atg		AKNA domain containing 1							158	164	162					1																	109369914		2203	4299	6502	SO:0001583	missense	254268							g.chr1:109369914C>T	AK095517	CCDS791.2	1p13.3	2009-10-29	2009-10-29	2009-10-29	ENSG00000162641	ENSG00000162641			28398	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 62"	C1orf62			Standard	NM_152763		Approved	MGC26989	uc001dwa.4	Q5T1N1	OTTHUMG00000011231	ENST00000370001.3:c.1849G>A	1.37:g.109369914C>T	ENSP00000359018:p.Val617Met					AKNAD1_ENST00000369995.3_Missense_Mutation_p.V617M|AKNAD1_ENST00000357393.4_Missense_Mutation_p.V324M|AKNAD1_ENST00000369994.1_Missense_Mutation_p.V587M	p.V617M	NM_152763.4	NP_689976.2	Q5T1N1	AKND1_HUMAN			11	2117	-			617					B9EK62|Q5T1N0|Q8N990|Q8NCN9	Missense_Mutation	SNP	ENST00000370001.3	37	c.1849G>A	CCDS791.2	.	.	.	.	.	.	.	.	.	.	C	0.985	-0.695692	0.03279	.	.	ENSG00000162641	ENST00000370001;ENST00000357393;ENST00000369994;ENST00000369995	T;T;T;T	0.18338	2.22;2.22;2.22;2.22	5.0	-1.74	0.08056	.	1.074910	0.07185	N	0.854653	T	0.01124	0.0037	N	0.04959	-0.14	0.09310	N	1	B;B	0.18461	0.028;0.01	B;B	0.06405	0.002;0.001	T	0.39981	-0.9587	10	0.02654	T	1	0.0207	0.2342	0.00184	0.2927:0.1744:0.1514:0.3814	.	324;617	B4DET8;Q5T1N1	.;AKND1_HUMAN	M	617;324;587;617	ENSP00000359018:V617M;ENSP00000349968:V324M;ENSP00000359011:V587M;ENSP00000359012:V617M	ENSP00000349968:V324M	V	-	1	0	AKNAD1	109171437	0.001000	0.12720	0.004000	0.12327	0.002000	0.02628	-0.049000	0.11924	-0.390000	0.07774	-1.131000	0.01979	GTG		0.383	AKNAD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030923.2	NM_152763		21	230	0	0	0	1	0	21	230					T	109369914	C	T	109369914	3	4	40	1	0	0	0	0	1	0	0	0	464	536	19	1	685	1	AKNAD1	1	109369914	Missense_Mutation	SNP	C	TCGA-CH-5790-01A-11D-1576-08	106954012	109369914	139880707	2	2153											
FCGR1A	2209	broad.mit.edu	37	chr1	149760144	149760144	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catgggaaagcatcgctacaCatcagcaggaatatctgtca	14	8	9	10	1	3	0	2	0	1	0	4	2	3	2	0	2	3	3	0	2	4	2			TCGA-CH-5790-01A-11D-1576-08	TCGA-CH-5790-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1730f32-f97d-49e7-beb7-593c8ca8a907	c66f09bd-db15-4633-aeba-4f579345c6d0	g.chr1:149760144C>T	ENST00000369168.4	+	4	584	c.530C>T	c.(529-531)aCa>aTa	p.T177I	RP11-196G18.3_ENST00000428289.1_RNA|RP11-196G18.21_ENST00000420462.1_RNA|HIST2H2BF_ENST00000545683.1_Intron	NM_000566.3	NP_000557.1	P12314	FCGR1_HUMAN	Fc fragment of IgG, high affinity Ia, receptor (CD64)	177	Ig-like C2-type 2.				antibody-dependent cellular cytotoxicity (GO:0001788)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytokine-mediated signaling pathway (GO:0019221)|defense response to bacterium (GO:0042742)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|immune response (GO:0006955)|innate immune response (GO:0045087)|interferon-gamma-mediated signaling pathway (GO:0060333)|intracellular signal transduction (GO:0035556)|phagocytosis, engulfment (GO:0006911)|phagocytosis, recognition (GO:0006910)|positive regulation of phagocytosis (GO:0050766)|positive regulation of type IIa hypersensitivity (GO:0001798)|positive regulation of type III hypersensitivity (GO:0001805)|receptor-mediated endocytosis (GO:0006898)|signal transduction (GO:0007165)	clathrin-coated endocytic vesicle membrane (GO:0030669)|early endosome membrane (GO:0031901)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	IgG receptor activity (GO:0019770)|receptor signaling protein activity (GO:0005057)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)	10	Breast(34;0.0124)|all_hematologic(923;0.127)				Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Intravenous Immunoglobulin(DB00028)|Methyl aminolevulinate(DB00992)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Porfimer(DB00707)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	CATCGCTACACATCAGCAGGA	0.413																																						ENST00000369168.4																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)	10						c.(529-531)aCa>aTa		Fc fragment of IgG, high affinity Ia, receptor (CD64)	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Methyl aminolevulinate(DB00992)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Porfimer(DB00707)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)						168	146	154					1																	149760144		2203	4300	6503	SO:0001583	missense	2209				interferon-gamma-mediated signaling pathway|phagocytosis, engulfment	integral to membrane|plasma membrane	IgG binding|receptor activity|receptor signaling protein activity	g.chr1:149760144C>T	BC032634	CCDS933.1	1q21.2-q21.3	2014-09-17	2005-02-02		ENSG00000150337	ENSG00000150337		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	3613	protein-coding gene	gene with protein product		146760	"Fc fragment of IgG, high affinity Ia, receptor for (CD64)"			8697799, 9763663	Standard	NM_000566		Approved	CD64, CD64A	uc001esp.4	P12314	OTTHUMG00000012089	ENST00000369168.4:c.530C>T	1.37:g.149760144C>T	ENSP00000358165:p.Thr177Ile					HIST2H2BF_ENST00000545683.1_Intron|RP11-196G18.21_ENST00000420462.1_RNA|RP11-196G18.3_ENST00000428289.1_RNA	p.T177I	NM_000566.3	NP_000557.1	P12314	FCGR1_HUMAN			4	584	+	Breast(34;0.0124)|all_hematologic(923;0.127)		177			Ig-like C2-type 2.		P12315|Q5QNW7|Q92495|Q92663	Missense_Mutation	SNP	ENST00000369168.4	37	c.530C>T	CCDS933.1	.	.	.	.	.	.	.	.	.	.	C	17.56	3.421028	0.62622	.	.	ENSG00000150337	ENST00000444948;ENST00000369168	T;T	0.09255	3.0;3.0	4.0	-7.2	0.01495	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	1.274590	0.05855	N	0.621967	T	0.03263	0.0095	L	0.61387	1.9	0.09310	N	1	B	0.22414	0.069	B	0.31390	0.129	T	0.44922	-0.9296	10	0.48119	T	0.1	.	1.9613	0.03387	0.4796:0.2337:0.1191:0.1676	.	177	P12314	FCGR1_HUMAN	I	85;177	ENSP00000394279:T85I;ENSP00000358165:T177I	ENSP00000358165:T177I	T	+	2	0	FCGR1A	148026768	0.000000	0.05858	0.000000	0.03702	0.650000	0.38633	-1.003000	0.03682	-1.618000	0.01568	0.514000	0.50259	ACA		0.413	FCGR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033446.1	NM_000566		5	198	0	0	0	1	0	5	198					T	149760144	C	T	149760144	3	4	40	1	0	0	0	0	1	0	0	0	5779	478	17	3	544	3	FCGR1A	1	149760144	Missense_Mutation	SNP	C	TCGA-CH-5790-01A-11D-1576-08	40390230	149760144	99490477	3	2154											
TMEM214	54867	broad.mit.edu	37	chr2	27258872	27258872	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggttaccgcatctgtatccaGgccatcctgcaagacaagcc	10	8	9	14	1	1	1	0	0	1	1	3	1	3	1	5	2	3	4	5	2	4	2			TCGA-CH-5790-01A-11D-1576-08	TCGA-CH-5790-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1730f32-f97d-49e7-beb7-593c8ca8a907	c66f09bd-db15-4633-aeba-4f579345c6d0	g.chr2:27258872G>A	ENST00000238788.9	+	5	734	c.672G>A	c.(670-672)caG>caA	p.Q224Q	TMEM214_ENST00000404032.3_Silent_p.Q179Q	NM_017727.4	NP_060197.4	Q6NUQ4	TM214_HUMAN	transmembrane protein 214	224					apoptotic process (GO:0006915)	cytoplasmic microtubule (GO:0005881)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)		p.Q224Q(1)		kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2)	18						TCTGTATCCAGGCCATCCTGC	0.517																																						ENST00000238788.9																			1	Substitution - coding silent(1)	p.Q224Q(1)	prostate(1)	kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2)	18						c.(670-672)caG>caA		transmembrane protein 214							96	98	97					2																	27258872		2113	4240	6353	SO:0001819	synonymous_variant	54867					integral to membrane	protein binding	g.chr2:27258872G>A		CCDS42664.1, CCDS46242.1	2p23.3	2013-06-19			ENSG00000119777	ENSG00000119777			25983	protein-coding gene	gene with protein product						23661706	Standard	NM_001083590		Approved	FLJ20254	uc002ria.4	Q6NUQ4	OTTHUMG00000151999	ENST00000238788.9:c.672G>A	2.37:g.27258872G>A						TMEM214_ENST00000404032.3_Silent_p.Q179Q	p.Q224Q	NM_017727.4	NP_060197.4	Q6NUQ4	TM214_HUMAN			5	734	+			224					A6NNF2|B3KUI9|B5MCD8|D6W547|Q53SW1|Q69YH4|Q8NC45|Q8WZ37|Q9NXH2	Silent	SNP	ENST00000238788.9	37	c.672G>A	CCDS42664.1																																																																																				0.517	TMEM214-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324748.1	NM_017727		18	44	0	0	0	1	0	18	44					A	27258872	G	A	27258872	2	1	40	1	0	0	0	0	0	0	0	1	16134	991	35	3		3	TMEM214	2	27258872	Silent	SNP	G	TCGA-CH-5790-01A-11D-1576-08		27258872	215940501	4	2155											
IRAK2	3656	broad.mit.edu	37	chr3	10251301	10251301	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccagccagagcccaccagccGgcctttctccagcctcctga	7	6	8	20	1	1	2	0	1	1	1	3	2	2	2	9	1	4	0	9	1	0	1			TCGA-CH-5790-01A-11D-1576-08	TCGA-CH-5790-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1730f32-f97d-49e7-beb7-593c8ca8a907	c66f09bd-db15-4633-aeba-4f579345c6d0	g.chr3:10251301G>A	ENST00000256458.4	+	4	543	c.453G>A	c.(451-453)ccG>ccA	p.P151P		NM_001570.3	NP_001561.3	O43187	IRAK2_HUMAN	interleukin-1 receptor-associated kinase 2	151					activation of MAPK activity (GO:0000187)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-1-mediated signaling pathway (GO:0070498)|JNK cascade (GO:0007254)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein phosphorylation (GO:0006468)|regulation of cytokine-mediated signaling pathway (GO:0001959)|response to interleukin-1 (GO:0070555)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|endosome membrane (GO:0010008)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)	p.P151P(2)		breast(4)|large_intestine(8)|lung(11)|prostate(1)|stomach(1)	25						CCCACCAGCCGGCCTTTCTCC	0.597																																						ENST00000256458.4																			2	Substitution - coding silent(2)	p.P151P(2)	prostate(2)	breast(4)|large_intestine(8)|lung(11)|prostate(1)|stomach(1)	25						c.(451-453)ccG>ccA		interleukin-1 receptor-associated kinase 2							146	157	154					3																	10251301		2203	4300	6503	SO:0001819	synonymous_variant	3656				activation of MAPK activity|I-kappaB kinase/NF-kappaB cascade|inflammatory response|innate immune response|interleukin-1-mediated signaling pathway|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of NF-kappaB transcription factor activity|positive regulation of NF-kappaB transcription factor activity|regulation of cytokine-mediated signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cell surface|cytosol|endosome membrane|plasma membrane	ATP binding|NF-kappaB-inducing kinase activity|protein heterodimerization activity|protein homodimerization activity	g.chr3:10251301G>A	AF026273	CCDS33697.1	3p25.2	2008-08-18			ENSG00000134070	ENSG00000134070			6113	protein-coding gene	gene with protein product		603304				9374458	Standard	XR_245126		Approved		uc003bve.1	O43187	OTTHUMG00000155358	ENST00000256458.4:c.453G>A	3.37:g.10251301G>A							p.P151P	NM_001570.3	NP_001561.3	O43187	IRAK2_HUMAN			4	543	+			151					B4DQZ6|Q08AG6|Q5K546	Silent	SNP	ENST00000256458.4	37	c.453G>A	CCDS33697.1																																																																																				0.597	IRAK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339623.1			7	275	0	0	0	1	0	7	275					A	10251301	G	A	10251301	2	1	40	1	0	0	0	0	0	0	0	1	7823	1103	39	2		2	IRAK2	3	10251301	Silent	SNP	G	TCGA-CH-5790-01A-11D-1576-08		10251301	187771129	5	2156											
COL7A1	1294	broad.mit.edu	37	chr3	48624753	48624753	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gagatccctggaagtgtctgCggggacccaggcacttctgc	7	8	14	12	1	2	1	0	0	2	1	3	4	3	3	2	4	2	1	2	4	1	1			TCGA-CH-5790-01A-11D-1576-08	TCGA-CH-5790-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1730f32-f97d-49e7-beb7-593c8ca8a907	c66f09bd-db15-4633-aeba-4f579345c6d0	g.chr3:48624753C>T	ENST00000328333.8	-	23	3116	c.3009G>A	c.(3007-3009)ccG>ccA	p.P1003P	COL7A1_ENST00000454817.1_Silent_p.P1003P	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	1003	Fibronectin type-III 9. {ECO:0000255|PROSITE-ProRule:PRU00316}.|Nonhelical region (NC1).				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|collagen type VII trimer (GO:0005590)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.P1003P(1)		NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		GAAGTGTCTGCGGGGACCCAG	0.602																																						ENST00000328333.8																			1	Substitution - coding silent(1)	p.P1003P(1)	prostate(1)	NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137						c.(3007-3009)ccG>ccA		collagen, type VII, alpha 1							32	31	31					3																	48624753		2199	4296	6495	SO:0001819	synonymous_variant	1294				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity	g.chr3:48624753C>T	L02870	CCDS2773.1	3p21.1	2014-09-17	2008-08-01		ENSG00000114270	ENSG00000114270		"Collagens", "Fibronectin type III domain containing"	2214	protein-coding gene	gene with protein product	"collagen VII, alpha-1 polypeptide", "LC collagen"	120120	"epidermolysis bullosa, dystrophic, dominant and recessive"	EBDCT, EBD1, EBR1		1871109	Standard	NM_000094		Approved		uc003ctz.2	Q02388	OTTHUMG00000133541	ENST00000328333.8:c.3009G>A	3.37:g.48624753C>T						COL7A1_ENST00000454817.1_Silent_p.P1003P	p.P1003P	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)	23	3116	-			1003			Fibronectin type-III 9.|Nonhelical region (NC1).		Q14054|Q16507	Silent	SNP	ENST00000328333.8	37	c.3009G>A	CCDS2773.1																																																																																				0.602	COL7A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257519.1	NM_000094		3	31	0	0	0	1	0	3	31					T	48624753	C	T	48624753	2	4	40	1	0	0	0	0	0	0	0	1	3704	755	27	1		1	COL7A1	3	48624753	Silent	SNP	C	TCGA-CH-5790-01A-11D-1576-08	38373452	48624753	149397677	6	2157											
GRM2	2912	broad.mit.edu	37	chr3	51746689	51746689	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgtctgagggcgactatggCgagacaggcattgaggcctt	8	8	16	9	3	1	3	0	2	1	1	1	5	1	3	1	4	0	1	1	4	1	3			TCGA-CH-5790-01A-11D-1576-08	TCGA-CH-5790-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1730f32-f97d-49e7-beb7-593c8ca8a907	c66f09bd-db15-4633-aeba-4f579345c6d0	g.chr3:51746689C>T	ENST00000395052.3	+	3	885	c.651C>T	c.(649-651)ggC>ggT	p.G217G	GRM2_ENST00000442933.2_Silent_p.G217G|GRM2_ENST00000475478.1_Intron	NM_000839.3	NP_000830.2	Q14416	GRM2_HUMAN	glutamate receptor, metabotropic 2	217					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|glutamate secretion (GO:0014047)|negative regulation of adenylate cyclase activity (GO:0007194)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)	axon (GO:0030424)|cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	calcium channel regulator activity (GO:0005246)|G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group II metabotropic glutamate receptor activity (GO:0001641)	p.G217G(2)		breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(11)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		GCGACTATGGCGAGACAGGCA	0.597																																						ENST00000395052.3																			2	Substitution - coding silent(2)	p.G217G(2)	prostate(1)|endometrium(1)	breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(11)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33						c.(649-651)ggC>ggT		glutamate receptor, metabotropic 2	Acamprosate(DB00659)|Nicotine(DB00184)						100	91	94					3																	51746689		2203	4300	6503	SO:0001819	synonymous_variant	2912				synaptic transmission	integral to plasma membrane		g.chr3:51746689C>T	L35318	CCDS2834.1	3p21.2	2013-09-20			ENSG00000164082	ENSG00000164082		"GPCR / Class C : Glutamate receptors, metabotropic", "Glutamate receptors"	4594	protein-coding gene	gene with protein product		604099				7620613	Standard	NM_000839		Approved	GPRC1B, mGlu2, MGLUR2	uc010hlv.3	Q14416	OTTHUMG00000156902	ENST00000395052.3:c.651C>T	3.37:g.51746689C>T						GRM2_ENST00000475478.1_Intron|GRM2_ENST00000442933.2_Silent_p.G217G	p.G217G	NM_000839.3	NP_000830.2	Q14416	GRM2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	3	885	+			217					B0M0K7|Q14CU5|Q52MC6|Q9H3N6	Silent	SNP	ENST00000395052.3	37	c.651C>T	CCDS2834.1																																																																																				0.597	GRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346542.1			5	122	0	0	0	1	0	5	122					T	51746689	C	T	51746689	2	4	40	1	0	0	0	0	0	0	0	1	6797	755	27	1		1	GRM2	3	51746689	Silent	SNP	C	TCGA-CH-5790-01A-11D-1576-08	3121936	51746689	146275741	7	2158											
FGA	2243	broad.mit.edu	37	chr4	155505566	155505566	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtactctgccccttcctctaCggaaccctcaatcagagcat	9	10	6	16	1	4	1	2	0	2	1	5	2	5	2	4	1	5	2	4	1	4	3	rs367614797		TCGA-CH-5790-01A-11D-1576-08	TCGA-CH-5790-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1730f32-f97d-49e7-beb7-593c8ca8a907	c66f09bd-db15-4633-aeba-4f579345c6d0	g.chr4:155505566C>T	ENST00000302053.3	-	6	2389	c.2311G>A	c.(2311-2313)Gta>Ata	p.V771I		NM_000508.3	NP_000499.1	P02671	FIBA_HUMAN	fibrinogen alpha chain	771	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				blood coagulation (GO:0007596)|blood coagulation, common pathway (GO:0072377)|cell-matrix adhesion (GO:0007160)|cellular protein complex assembly (GO:0043623)|extracellular matrix organization (GO:0030198)|negative regulation of blood coagulation, common pathway (GO:2000261)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of exocytosis (GO:0045921)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of peptide hormone secretion (GO:0090277)|positive regulation of protein secretion (GO:0050714)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive regulation of vasoconstriction (GO:0045907)|protein polymerization (GO:0051258)|response to calcium ion (GO:0051592)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|cell cortex (GO:0005938)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|plasma membrane (GO:0005886)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|vesicle (GO:0031982)	structural molecule activity (GO:0005198)			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	73	all_hematologic(180;0.215)	Renal(120;0.0458)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)	CCTTCCTCTACGGAACCCTCA	0.532																																					NSCLC(143;340 1922 20892 22370 48145)	ENST00000302053.3																			0				NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	73						c.(2311-2313)Gta>Ata		fibrinogen alpha chain	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)	C	ILE/VAL	0,4406		0,0,2203	137	130	132		2311	0.6	0	4		132	1,8599	1.2+/-3.3	0,1,4299	no	missense	FGA	NM_000508.3	29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	771/867	155505566	1,13005	2203	4300	6503	SO:0001583	missense	2243				platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding	g.chr4:155505566C>T		CCDS3787.1, CCDS47152.1	4q28	2014-09-17			ENSG00000171560	ENSG00000171560		"Fibrinogen C domain containing", "Endogenous ligands"	3661	protein-coding gene	gene with protein product		134820	"fibrinogen, A alpha polypeptide"				Standard	NM_000508		Approved		uc003iod.1	P02671	OTTHUMG00000150330	ENST00000302053.3:c.2311G>A	4.37:g.155505566C>T	ENSP00000306361:p.Val771Ile						p.V771I	NM_000508.3	NP_000499.1	P02671	FIBA_HUMAN			6	2389	-	all_hematologic(180;0.215)	Renal(120;0.0458)	771			Fibrinogen C-terminal.		A8K3E4|D3DP14|D3DP15|Q4QQH7|Q9BX62|Q9UCH2	Missense_Mutation	SNP	ENST00000302053.3	37	c.2311G>A	CCDS3787.1	.	.	.	.	.	.	.	.	.	.	C	1.910	-0.450985	0.04572	0.0	1.16E-4	ENSG00000171560	ENST00000302053	D	0.96992	-4.2	5.7	0.586	0.17434	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (4);Fibrinogen, alpha/beta/gamma chain, C-terminal globular, subdomain 2 (1);	1.328090	0.05386	N	0.538166	D	0.90191	0.6934	N	0.22421	0.69	0.09310	N	0.999999	B	0.33238	0.403	B	0.26770	0.073	T	0.82997	-0.0179	10	0.37606	T	0.19	.	2.9852	0.05965	0.1093:0.338:0.3499:0.2029	.	771	P02671	FIBA_HUMAN	I	771	ENSP00000306361:V771I	ENSP00000306361:V771I	V	-	1	0	FGA	155725016	0.000000	0.05858	0.000000	0.03702	0.140000	0.21249	0.234000	0.17930	0.044000	0.15775	-0.142000	0.14014	GTA		0.532	FGA-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317593.1	NM_000508		5	202	0	0	0	1	0	5	202					T	155505566	C	T	155505566	3	4	40	1	0	0	0	0	1	0	0	0	5830	536	19	1	293	1	FGA	4	155505566	Missense_Mutation	SNP	C	TCGA-CH-5790-01A-11D-1576-08		155505566	35648710	8	2159											
DMXL1	1657	broad.mit.edu	37	chr5	118469852	118469852	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atgtggcatggctgcccactCttatacccagttattgtctg	7	14	9	11	0	2	0	0	0	2	0	2	0	2	0	2	2	2	3	2	2	3	4			TCGA-CH-5790-01A-11D-1576-08	TCGA-CH-5790-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1730f32-f97d-49e7-beb7-593c8ca8a907	c66f09bd-db15-4633-aeba-4f579345c6d0	g.chr5:118469852C>G	ENST00000311085.8	+	12	2313	c.2233C>G	c.(2233-2235)Ctt>Gtt	p.L745V	DMXL1_ENST00000539542.1_Missense_Mutation_p.L745V	NM_005509.4	NP_005500.4	Q9Y485	DMXL1_HUMAN	Dmx-like 1	745								p.L745V(1)		breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)	86		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)		GCTGCCCACTCTTATACCCAG	0.383																																						ENST00000311085.8																			1	Substitution - Missense(1)	p.L745V(1)	prostate(1)	breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)	86						c.(2233-2235)Ctt>Gtt		Dmx-like 1							73	75	75					5																	118469852		2201	4285	6486	SO:0001583	missense	1657							g.chr5:118469852C>G	AJ005821	CCDS4125.1, CCDS75289.1	5q22	2013-01-10			ENSG00000172869	ENSG00000172869		"WD repeat domain containing"	2937	protein-coding gene	gene with protein product		605671				10708522	Standard	NM_005509		Approved		uc003ksd.2	Q9Y485	OTTHUMG00000128898	ENST00000311085.8:c.2233C>G	5.37:g.118469852C>G	ENSP00000309690:p.Leu745Val					DMXL1_ENST00000539542.1_Missense_Mutation_p.L745V	p.L745V	NM_005509.4	NP_005500.4	Q9Y485	DMXL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)	12	2313	+		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)	745						Missense_Mutation	SNP	ENST00000311085.8	37	c.2233C>G	CCDS4125.1	.	.	.	.	.	.	.	.	.	.	C	15.86	2.956845	0.53293	.	.	ENSG00000172869	ENST00000311085;ENST00000539542	T;T	0.43294	0.95;0.95	5.54	5.54	0.83059	.	0.053659	0.85682	D	0.000000	T	0.56016	0.1957	M	0.62088	1.915	0.50632	D	0.999885	D;D	0.61080	0.982;0.989	P;P	0.53518	0.728;0.666	T	0.53493	-0.8431	9	.	.	.	-15.5683	19.4667	0.94945	0.0:1.0:0.0:0.0	.	745;745	F5H269;Q9Y485	.;DMXL1_HUMAN	V	745	ENSP00000309690:L745V;ENSP00000439479:L745V	.	L	+	1	0	DMXL1	118497751	0.998000	0.40836	1.000000	0.80357	0.908000	0.53690	3.741000	0.55090	2.603000	0.88011	0.467000	0.42956	CTT		0.383	DMXL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250862.1	NM_005509		8	242	0	0	0	1	0	8	242					G	118469852	C	G	118469852	3	3	40	1	0	0	0	0	1	0	0	0	4594	913	32	5	2279	5	DMXL1	5	118469852	Missense_Mutation	SNP	C	TCGA-CH-5790-01A-11D-1576-08		118469852	62445408	9	2160											
HSPA9	3313	broad.mit.edu	37	chr5	137893676	137893676	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggggctggtggaattccaatCtaaaataaataatatccaga	16	10	9	6	0	1	1	0	0	1	1	3	2	3	2	2	4	0	1	2	4	8	5			TCGA-CH-5790-01A-11D-1576-08	TCGA-CH-5790-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1730f32-f97d-49e7-beb7-593c8ca8a907	c66f09bd-db15-4633-aeba-4f579345c6d0	g.chr5:137893676C>A	ENST00000297185.3	-	13	1641		c.e13-1		SNORD63_ENST00000411005.1_RNA|HSPA9_ENST00000501917.2_Intron	NM_004134.6	NP_004125.3	P38646	GRP75_HUMAN	heat shock 70kDa protein 9 (mortalin)						cellular protein metabolic process (GO:0044267)|negative regulation of apoptotic process (GO:0043066)|protein export from nucleus (GO:0006611)|protein folding (GO:0006457)|protein targeting to mitochondrion (GO:0006626)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|unfolded protein binding (GO:0051082)			breast(2)|endometrium(1)|kidney(4)|large_intestine(8)|lung(12)|upper_aerodigestive_tract(1)	28			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			GAATTCCAATCTAAAATAAAT	0.388																																						ENST00000297185.3																			0				breast(2)|endometrium(1)|kidney(4)|large_intestine(8)|lung(12)|upper_aerodigestive_tract(1)	28						c.e13-1		heat shock 70kDa protein 9 (mortalin)							46	49	48					5																	137893676		2203	4300	6503	SO:0001630	splice_region_variant	3313				anti-apoptosis|protein folding	cell surface|mitochondrial nucleoid	ATP binding|unfolded protein binding	g.chr5:137893676C>A	L11066	CCDS4208.1	5q31.1	2011-09-02	2006-10-31	2006-10-31	ENSG00000113013	ENSG00000113013		"Heat shock proteins / HSP70"	5244	protein-coding gene	gene with protein product		600548	"heat shock 70kDa protein 9B (mortalin-2)"	HSPA9B		7684501	Standard	NM_004134		Approved	GRP75, PBP74, mot-2, mthsp75	uc003ldf.3	P38646	OTTHUMG00000129206	ENST00000297185.3:c.1516-1G>T	5.37:g.137893676C>A						HSPA9_ENST00000501917.2_Intron		NM_004134.6	NP_004125.3	P38646	GRP75_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)		13	1641	-								B2RCM1|P30036|P31932|Q1HB43|Q53H23|Q6GU03|Q9BWB7|Q9UC56	Splice_Site	SNP	ENST00000297185.3	37		CCDS4208.1	.	.	.	.	.	.	.	.	.	.	C	19.22	3.785257	0.70337	.	.	ENSG00000113013	ENST00000297185;ENST00000541333;ENST00000540484	.	.	.	4.36	4.36	0.52297	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.0425	0.86493	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	HSPA9	137921575	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	6.847000	0.75404	2.430000	0.82344	0.655000	0.94253	.		0.388	HSPA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251285.1	NM_004134	Intron	4	110	1	0	0.00909568	1	0.009601	4	110					A	137893676	C	A	137893676	5	1	40	1	0	0	0	0	0	0	1	0	7417	927	32	5	544	5	HSPA9	5	137893676	Splice_Site	SNP	C	TCGA-CH-5790-01A-11D-1576-08	19423824	137893676	43021584	10	2161											
GRM1	2911	broad.mit.edu	37	chr6	146480672	146480672	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tctgtgaaggcatgacagtgCgaggactcctgagcgccatg	9	8	14	10	2	1	3	0	3	1	0	2	5	2	4	2	2	2	1	2	2	1	0			TCGA-CH-5790-01A-11D-1576-08	TCGA-CH-5790-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1730f32-f97d-49e7-beb7-593c8ca8a907	c66f09bd-db15-4633-aeba-4f579345c6d0	g.chr6:146480672C>T	ENST00000282753.1	+	2	1124	c.889C>T	c.(889-891)Cga>Tga	p.R297*	GRM1_ENST00000492807.2_Nonsense_Mutation_p.R297*|GRM1_ENST00000507907.1_Nonsense_Mutation_p.R297*|GRM1_ENST00000361719.2_Nonsense_Mutation_p.R297*|GRM1_ENST00000355289.4_Nonsense_Mutation_p.R297*|GRM1_ENST00000392299.2_Nonsense_Mutation_p.R297*			Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	297					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|cell death (GO:0008219)|cellular response to electrical stimulus (GO:0071257)|dimeric G-protein coupled receptor signaling pathway (GO:0038042)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|G-protein coupled receptor signaling pathway (GO:0007186)|locomotory behavior (GO:0007626)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of pain (GO:0019233)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|G-protein coupled receptor dimeric complex (GO:0038037)|G-protein coupled receptor homodimeric complex (GO:0038038)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)	p.R297*(3)		NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)		CATGACAGTGCGAGGACTCCT	0.567																																						ENST00000392299.2																			3	Substitution - Nonsense(3)	p.R297*(3)	prostate(2)|breast(1)	NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126						c.(889-891)Cga>Tga		glutamate receptor, metabotropic 1	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)						85	80	82					6																	146480672		2203	4300	6503	SO:0001587	stop_gained	2911				synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	g.chr6:146480672C>T	U31215	CCDS5209.1, CCDS47497.1, CCDS64548.1	6q24	2014-06-12			ENSG00000152822	ENSG00000152822		"GPCR / Class C : Glutamate receptors, metabotropic", "Glutamate receptors"	4593	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 85"	604473				9076744, 9376535	Standard	NM_001278064		Approved	GPRC1A, mGlu1, MGLUR1, PPP1R85	uc010khw.2	Q13255	OTTHUMG00000015752	ENST00000282753.1:c.889C>T	6.37:g.146480672C>T	ENSP00000282753:p.Arg297*					GRM1_ENST00000507907.1_Nonsense_Mutation_p.R297*|GRM1_ENST00000355289.4_Nonsense_Mutation_p.R297*|GRM1_ENST00000492807.2_Nonsense_Mutation_p.R297*|GRM1_ENST00000361719.2_Nonsense_Mutation_p.R297*|GRM1_ENST00000282753.1_Nonsense_Mutation_p.R297*	p.R297*			Q13255	GRM1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	3	1359	+		Ovarian(120;0.0387)	297					B9EG79|F8W805|Q13256|Q14757|Q14758|Q5VTF7|Q5VTF8|Q9NU10|Q9UGS9|Q9UGT0	Nonsense_Mutation	SNP	ENST00000282753.1	37	c.889C>T	CCDS5209.1	.	.	.	.	.	.	.	.	.	.	C	39	7.608075	0.98387	.	.	ENSG00000152822	ENST00000361719;ENST00000392299;ENST00000492807;ENST00000282753;ENST00000355289;ENST00000507907	.	.	.	5.32	3.34	0.38264	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.8156	0.52209	0.5982:0.4017:0.0:0.0	.	.	.	.	X	297	.	ENSP00000282753:R297X	R	+	1	2	GRM1	146522365	1.000000	0.71417	0.791000	0.31998	0.873000	0.50193	3.908000	0.56355	1.243000	0.43853	0.655000	0.94253	CGA		0.567	GRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042574.1	NM_000838		4	61	0	0	0	1	0	4	61					T	146480672	C	T	146480672	4	4	40	1	0	0	0	0	0	1	0	0	6796	760	27	1	895	1	GRM1	6	146480672	Nonsense_Mutation	SNP	C	TCGA-CH-5790-01A-11D-1576-08		146480672	24634395	11	2162											
AKAP12	9590	broad.mit.edu	37	chr6	151672372	151672372	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcagaagaagaaccccccaCggttactgaacctctgccag	12	6	9	14	1	1	4	0	1	1	3	1	4	1	4	5	1	5	2	5	1	5	1			TCGA-CH-5790-01A-11D-1576-08	TCGA-CH-5790-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1730f32-f97d-49e7-beb7-593c8ca8a907	c66f09bd-db15-4633-aeba-4f579345c6d0	g.chr6:151672372C>T	ENST00000253332.1	+	3	3035	c.2846C>T	c.(2845-2847)aCg>aTg	p.T949M	AKAP12_ENST00000402676.2_Missense_Mutation_p.T949M|AKAP12_ENST00000354675.6_Missense_Mutation_p.T851M|AKAP12_ENST00000359755.5_Missense_Mutation_p.T844M			Q02952	AKA12_HUMAN	A kinase (PRKA) anchor protein 12	949					G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of protein kinase A signaling (GO:0010739)|protein targeting (GO:0006605)|regulation of protein kinase C signaling (GO:0090036)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)	adenylate cyclase binding (GO:0008179)|protein kinase A binding (GO:0051018)	p.T949M(1)		breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	68		Ovarian(120;0.125)	BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.98e-11)		GAACCCCCCACGGTTACTGAA	0.527																																					Melanoma(141;1616 1805 10049 24534 51979)	ENST00000402676.2																			1	Substitution - Missense(1)	p.T949M(1)	prostate(1)	breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	68						c.(2845-2847)aCg>aTg		A kinase (PRKA) anchor protein 12							52	57	56					6																	151672372		2203	4300	6503	SO:0001583	missense	9590				G-protein coupled receptor protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of protein kinase A signaling cascade|protein targeting	cell cortex|cytoskeleton|plasma membrane	adenylate cyclase binding|protein kinase A binding	g.chr6:151672372C>T	U81607	CCDS5229.1, CCDS5230.1	6q24-q25	2011-07-01	2008-08-29		ENSG00000131016	ENSG00000131016		"A-kinase anchor proteins"	370	protein-coding gene	gene with protein product	"gravin", "Src-Suppressed C Kinase Substrate"	604698	"A kinase (PRKA) anchor protein (gravin) 12"			9000000	Standard	NM_144497		Approved	AKAP250, SSeCKS	uc011eep.2	Q02952	OTTHUMG00000015833	ENST00000253332.1:c.2846C>T	6.37:g.151672372C>T	ENSP00000253332:p.Thr949Met					AKAP12_ENST00000359755.5_Missense_Mutation_p.T844M|AKAP12_ENST00000253332.1_Missense_Mutation_p.T949M|AKAP12_ENST00000354675.6_Missense_Mutation_p.T851M	p.T949M	NM_005100.3	NP_005091.2	Q02952	AKA12_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.98e-11)	4	3086	+		Ovarian(120;0.125)	949					O00310|O00498|Q4LE68|Q5SZ80|Q5TGN1|Q68D82|Q99970	Missense_Mutation	SNP	ENST00000253332.1	37	c.2846C>T	CCDS5229.1	.	.	.	.	.	.	.	.	.	.	C	10.69	1.421839	0.25639	.	.	ENSG00000131016	ENST00000402676;ENST00000253332;ENST00000354675;ENST00000359755	T;T;T;T	0.07327	3.2;3.2;3.2;3.2	4.87	-8.8	0.00817	.	4.262420	0.00541	N	0.000222	T	0.00967	0.0032	N	0.08118	0	0.09310	N	1	P;P;P	0.48640	0.91;0.91;0.913	B;B;B	0.36030	0.216;0.216;0.107	T	0.44298	-0.9337	10	0.49607	T	0.09	.	6.5044	0.22186	0.2242:0.4278:0.0:0.348	.	844;851;949	Q02952-3;Q02952-2;Q02952	.;.;AKA12_HUMAN	M	949;949;851;844	ENSP00000384537:T949M;ENSP00000253332:T949M;ENSP00000346702:T851M;ENSP00000352794:T844M	ENSP00000253332:T949M	T	+	2	0	AKAP12	151714065	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-1.743000	0.01834	-1.639000	0.01527	-2.681000	0.00142	ACG		0.527	AKAP12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042712.1			5	136	0	0	0	1	0	5	136					T	151672372	C	T	151672372	3	4	40	1	0	0	0	0	1	0	0	0	448	536	19	1	2885	1	AKAP12	6	151672372	Missense_Mutation	SNP	C	TCGA-CH-5790-01A-11D-1576-08	5191700	151672372	19442695	12	2163											
KCNB2	9312	broad.mit.edu	37	chr8	73848458	73848458	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgacggagtccaacaagagcGtgctgcagttccaaaacgtg	12	7	12	10	3	0	2	0	1	0	1	2	3	2	3	2	1	5	3	2	1	4	1			TCGA-CH-5790-01A-11D-1576-08	TCGA-CH-5790-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1730f32-f97d-49e7-beb7-593c8ca8a907	c66f09bd-db15-4633-aeba-4f579345c6d0	g.chr8:73848458G>A	ENST00000523207.1	+	3	1456	c.868G>A	c.(868-870)Gtg>Atg	p.V290M		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	290					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of smooth muscle contraction (GO:0006940)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)	p.V290M(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)		Dalfampridine(DB06637)	CAACAAGAGCGTGCTGCAGTT	0.502																																						ENST00000523207.1																			1	Substitution - Missense(1)	p.V290M(1)	prostate(1)	NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85						c.(868-870)Gtg>Atg		potassium voltage-gated channel, Shab-related subfamily, member 2							98	96	96					8																	73848458		2203	4300	6503	SO:0001583	missense	9312				regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding	g.chr8:73848458G>A	U69962	CCDS6209.1	8q13.2	2012-07-05			ENSG00000182674	ENSG00000182674		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6232	protein-coding gene	gene with protein product		607738				9612272, 16382104	Standard	NM_004770		Approved	Kv2.2	uc003xzb.3	Q92953	OTTHUMG00000164498	ENST00000523207.1:c.868G>A	8.37:g.73848458G>A	ENSP00000430846:p.Val290Met						p.V290M	NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	Epithelial(68;0.105)		3	1456	+	Breast(64;0.137)		290					Q7Z7D0|Q9BXD3	Missense_Mutation	SNP	ENST00000523207.1	37	c.868G>A	CCDS6209.1	.	.	.	.	.	.	.	.	.	.	G	33	5.284625	0.95517	.	.	ENSG00000182674	ENST00000523207	D	0.98493	-4.96	5.74	5.74	0.90152	Ion transport (1);	0.178608	0.26851	N	0.022168	D	0.97031	0.9030	N	0.19112	0.55	0.80722	D	1	D	0.61080	0.989	P	0.52514	0.701	D	0.97601	1.0123	10	0.56958	D	0.05	.	19.91	0.97023	0.0:0.0:1.0:0.0	.	290	Q92953	KCNB2_HUMAN	M	290	ENSP00000430846:V290M	ENSP00000430846:V290M	V	+	1	0	KCNB2	74011012	1.000000	0.71417	0.977000	0.42913	0.979000	0.70002	8.029000	0.88807	2.702000	0.92279	0.655000	0.94253	GTG		0.502	KCNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378998.1	NM_004770		9	124	0	0	0	1	0	9	124					A	73848458	G	A	73848458	3	1	40	1	0	0	0	0	1	0	0	0	8013	1145	40	1	874	1	KCNB2	8	73848458	Missense_Mutation	SNP	G	TCGA-CH-5790-01A-11D-1576-08		73848458	72515564	13	2164											
SNTB1	6641	broad.mit.edu	37	chr8	121823678	121823678	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gatcttgctgatgaggatggGcatcttgttctccttgcccc	5	14	11	11	0	3	2	0	2	3	0	4	4	3	3	3	2	2	3	3	2	0	4			TCGA-CH-5790-01A-11D-1576-08	TCGA-CH-5790-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1730f32-f97d-49e7-beb7-593c8ca8a907	c66f09bd-db15-4633-aeba-4f579345c6d0	g.chr8:121823678G>A	ENST00000395601.3	-	2	820	c.406C>T	c.(406-408)Ccc>Tcc	p.P136S	SNTB1_ENST00000519177.1_5'UTR|SNTB1_ENST00000517992.1_Missense_Mutation_p.P136S|RP11-713M15.2_ENST00000605955.1_RNA	NM_021021.3	NP_066301.1	Q13884	SNTB1_HUMAN	syntrophin, beta 1 (dystrophin-associated protein A1, 59kDa, basic component 1)	136	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.|PH 1. {ECO:0000255|PROSITE- ProRule:PRU00145}.				muscle contraction (GO:0006936)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dystrophin-associated glycoprotein complex (GO:0016010)|focal adhesion (GO:0005925)|protein complex (GO:0043234)|synapse (GO:0045202)		p.P136S(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|prostate(2)|skin(6)	24	Lung NSC(37;4.46e-09)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)		STAD - Stomach adenocarcinoma(47;0.00503)			ATGAGGATGGGCATCTTGTTC	0.637																																						ENST00000395601.3																			1	Substitution - Missense(1)	p.P136S(1)	prostate(1)	NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|prostate(2)|skin(6)	24						c.(406-408)Ccc>Tcc		syntrophin, beta 1 (dystrophin-associated protein A1, 59kDa, basic component 1)							68	69	69					8																	121823678		2203	4300	6503	SO:0001583	missense	6641				muscle contraction	cell junction|cytoplasm|cytoskeleton|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|calmodulin binding	g.chr8:121823678G>A	AF028828	CCDS6334.1	8q23-q24	2013-01-10	2002-08-29		ENSG00000172164	ENSG00000172164		"Pleckstrin homology (PH) domain containing"	11168	protein-coding gene	gene with protein product	"tax interaction protein 43"	600026	"syntrophin, beta 1 (dystrophin-associated protein A1, 59kD, basic component 1)"	SNT2B1		8183929, 9482110	Standard	NM_021021		Approved	59-DAP, A1B, BSYN2, TIP-43, SNT2	uc010mdg.3	Q13884	OTTHUMG00000165041	ENST00000395601.3:c.406C>T	8.37:g.121823678G>A	ENSP00000378965:p.Pro136Ser					SNTB1_ENST00000517992.1_Missense_Mutation_p.P136S|SNTB1_ENST00000519177.1_5'UTR	p.P136S	NM_021021.3	NP_066301.1	Q13884	SNTB1_HUMAN	STAD - Stomach adenocarcinoma(47;0.00503)		2	820	-	Lung NSC(37;4.46e-09)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)		136			PDZ.|PH 1.		A8K9E0|O14912|Q4KMG8	Missense_Mutation	SNP	ENST00000395601.3	37	c.406C>T	CCDS6334.1	.	.	.	.	.	.	.	.	.	.	G	28.6	4.937531	0.92458	.	.	ENSG00000172164	ENST00000395601;ENST00000517992	T;T	0.52526	0.66;0.66	4.55	4.55	0.56014	PDZ/DHR/GLGF (4);Pleckstrin homology domain (2);	0.000000	0.85682	D	0.000000	T	0.67581	0.2908	M	0.66378	2.025	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.997;0.998	T	0.71892	-0.4455	10	0.66056	D	0.02	.	17.2547	0.87052	0.0:0.0:1.0:0.0	.	136;136	Q13884;Q13884-2	SNTB1_HUMAN;.	S	136	ENSP00000378965:P136S;ENSP00000431124:P136S	ENSP00000378965:P136S	P	-	1	0	SNTB1	121892859	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.580000	0.98207	2.213000	0.71641	0.511000	0.50034	CCC		0.637	SNTB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381535.1	NM_021021		4	69	0	0	0	1	0	4	69					A	121823678	G	A	121823678	3	1	40	1	0	0	0	0	1	0	0	0	14872	1203	42	3	1238	3	SNTB1	8	121823678	Missense_Mutation	SNP	G	TCGA-CH-5790-01A-11D-1576-08	47975220	121823678	24540344	14	2165											
FAM135B	51059	broad.mit.edu	37	chr8	139278045	139278045	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgaaagacccggctgtgcacGgtgctgtcatggacacaggc	9	7	14	11	2	1	2	1	1	0	1	1	3	1	3	1	4	2	3	1	4	1	0			TCGA-CH-5790-01A-11D-1576-08	TCGA-CH-5790-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1730f32-f97d-49e7-beb7-593c8ca8a907	c66f09bd-db15-4633-aeba-4f579345c6d0	g.chr8:139278045G>A	ENST00000395297.1	-	4	368	c.198C>T	c.(196-198)acC>acT	p.T66T		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	66								p.T66T(2)		NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			GGCTGTGCACGGTGCTGTCAT	0.502										HNSCC(54;0.14)																												ENST00000395297.1																			2	Substitution - coding silent(2)	p.T66T(2)	prostate(2)	NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238						c.(196-198)acC>acT		family with sequence similarity 135, member B							78	79	79					8																	139278045		2003	4180	6183	SO:0001819	synonymous_variant	51059							g.chr8:139278045G>A	AB196635	CCDS6375.2	8q24.23	2008-11-05			ENSG00000147724	ENSG00000147724			28029	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_015912		Approved	C8ORFK32	uc003yuy.3	Q49AJ0	OTTHUMG00000149864	ENST00000395297.1:c.198C>T	8.37:g.139278045G>A		HNSCC(54;0.14)					p.T66T	NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0805)		4	368	-	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		66					B5MDB3|O95879|Q2WGJ7|Q3KP46	Silent	SNP	ENST00000395297.1	37	c.198C>T	CCDS6375.2																																																																																				0.502	FAM135B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313590.3	NM_015912		3	78	0	0	0	1	0	3	78					A	139278045	G	A	139278045	2	1	40	1	0	0	0	0	0	0	0	1	5449	1103	39	2		2	FAM135B	8	139278045	Silent	SNP	G	TCGA-CH-5790-01A-11D-1576-08	17454367	139278045	7085977	15	2166											
KIFC2	90990	broad.mit.edu	37	chr8	145693004	145693004	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	cagcggctggagcagctcatCctgggacaggtgaggtccct	7	7	15	12	1	1	1	1	1	0	0	3	3	3	3	2	5	3	3	2	5	0	0			TCGA-CH-5790-01A-11D-1576-08	TCGA-CH-5790-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1730f32-f97d-49e7-beb7-593c8ca8a907	c66f09bd-db15-4633-aeba-4f579345c6d0	g.chr8:145693004C>G	ENST00000301332.2	+	5	983	c.606C>G	c.(604-606)atC>atG	p.I202M	CYHR1_ENST00000306145.5_5'Flank|KIFC2_ENST00000301331.5_5'UTR|CYHR1_ENST00000424149.2_5'Flank|CTD-2517M22.16_ENST00000525461.1_RNA|CYHR1_ENST00000403000.2_5'Flank|CYHR1_ENST00000438911.2_5'Flank	NM_145754.2	NP_665697.1	Q96AC6	KIFC2_HUMAN	kinesin family member C2	202	Gln-rich.				ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.I202M(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|lung(7)|ovary(3)|prostate(3)|skin(2)|urinary_tract(1)	19	all_cancers(97;4.61e-11)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;8.67e-41)|all cancers(56;1.1e-35)|BRCA - Breast invasive adenocarcinoma(115;0.035)|Colorectal(110;0.055)			AGCAGCTCATCCTGGGACAGG	0.647											OREG0019057	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000301332.2																			1	Substitution - Missense(1)	p.I202M(1)	prostate(1)	central_nervous_system(1)|endometrium(1)|kidney(1)|lung(7)|ovary(3)|prostate(3)|skin(2)|urinary_tract(1)	19						c.(604-606)atC>atG		kinesin family member C2							40	38	38					8																	145693004		2203	4300	6503	SO:0001583	missense	90990				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein binding	g.chr8:145693004C>G	AY007121	CCDS6427.1	8q24.3	2007-02-13			ENSG00000167702	ENSG00000167702		"Kinesins"	29530	protein-coding gene	gene with protein product						9115737	Standard	NM_145754		Approved		uc003zcz.3	Q96AC6	OTTHUMG00000165133	ENST00000301332.2:c.606C>G	8.37:g.145693004C>G	ENSP00000301332:p.Ile202Met		OREG0019057	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1696	KIFC2_ENST00000301331.5_5'UTR	p.I202M	NM_145754.2	NP_665697.1	Q96AC6	KIFC2_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;8.67e-41)|all cancers(56;1.1e-35)|BRCA - Breast invasive adenocarcinoma(115;0.035)|Colorectal(110;0.055)		5	983	+	all_cancers(97;4.61e-11)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		202			Gln-rich.		E9PHB2|Q96NN6	Missense_Mutation	SNP	ENST00000301332.2	37	c.606C>G	CCDS6427.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.17|18.17	3.565460|3.565460	0.65651|0.65651	.|.	.|.	ENSG00000167702|ENSG00000167702	ENST00000301332|ENST00000528415	T|.	0.47177|.	0.85|.	4.68|4.68	0.24|0.24	0.15489|0.15489	.|.	0.000000|.	0.34700|.	N|.	0.003741|.	T|T	0.41373|0.41373	0.1156|0.1156	L|L	0.29908|0.29908	0.895|0.895	0.80722|0.80722	D|D	1|1	P|.	0.50617|.	0.937|.	P|.	0.46026|.	0.501|.	T|T	0.10268|0.10268	-1.0637|-1.0637	10|5	0.35671|.	T|.	0.21|.	-12.3743|-12.3743	7.7574|7.7574	0.28932|0.28932	0.0:0.5552:0.0:0.4448|0.0:0.5552:0.0:0.4448	.|.	202|.	Q96AC6|.	KIFC2_HUMAN|.	M|A	202|23	ENSP00000301332:I202M|.	ENSP00000301332:I202M|.	I|P	+|+	3|1	3|0	KIFC2|KIFC2	145663812|145663812	0.000000|0.000000	0.05858|0.05858	0.996000|0.996000	0.52242|0.52242	0.943000|0.943000	0.58893|0.58893	-0.708000|-0.708000	0.05035|0.05035	-0.070000|-0.070000	0.12908|0.12908	0.563000|0.563000	0.77884|0.77884	ATC|CCT		0.647	KIFC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382052.2	NM_145754		3	61	0	0	0	1	0	3	61					G	145693004	C	G	145693004	3	3	40	1	0	0	0	0	1	0	0	0	8313	845	30	5	624	5	KIFC2	8	145693004	Missense_Mutation	SNP	C	TCGA-CH-5790-01A-11D-1576-08	6414959	145693004	671018	16	2167											
SUSD1	64420	broad.mit.edu	37	chr9	114840901	114840901	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cattgtagttggtacccggaCgtaggtccaagcacacctcg	9	9	11	12	3	0	0	0	0	0	0	2	1	1	1	3	3	2	5	3	3	4	5			TCGA-CH-5790-01A-11D-1576-08	TCGA-CH-5790-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1730f32-f97d-49e7-beb7-593c8ca8a907	c66f09bd-db15-4633-aeba-4f579345c6d0	g.chr9:114840901C>T	ENST00000374270.3	-	12	1842	c.1670G>A	c.(1669-1671)cGt>cAt	p.R557H	SUSD1_ENST00000374263.3_Missense_Mutation_p.R557H|SUSD1_ENST00000374264.2_Missense_Mutation_p.R557H	NM_022486.3	NP_071931.2	Q6UWL2	SUSD1_HUMAN	sushi domain containing 1	557						integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)	p.R557H(1)	SUSD1/ROD1(2)	central_nervous_system(1)|endometrium(4)|large_intestine(8)|lung(11)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28						GGTACCCGGACGTAGGTCCAA	0.493																																						ENST00000374270.3																		SUSD1/ROD1(2)	1	Substitution - Missense(1)	p.R557H(1)	prostate(1)	central_nervous_system(1)|endometrium(4)|large_intestine(8)|lung(11)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28						c.(1669-1671)cGt>cAt		sushi domain containing 1							149	143	145					9																	114840901		2203	4300	6503	SO:0001583	missense	64420					integral to membrane	calcium ion binding	g.chr9:114840901C>T	AL137432	CCDS6783.1, CCDS65105.1, CCDS65106.1	9q31.3-q33.1	2008-02-05			ENSG00000106868	ENSG00000106868			25413	protein-coding gene	gene with protein product						12975309	Standard	NM_022486		Approved	DKFZP761E1824	uc004bfu.3	Q6UWL2	OTTHUMG00000020499	ENST00000374270.3:c.1670G>A	9.37:g.114840901C>T	ENSP00000363388:p.Arg557His					SUSD1_ENST00000374263.3_Missense_Mutation_p.R557H|SUSD1_ENST00000374264.2_Missense_Mutation_p.R557H	p.R557H	NM_022486.3	NP_071931.2	Q6UWL2	SUSD1_HUMAN			12	1842	-			557					A1A4C5|A8KA03|Q5T8V6|Q5T8V7|Q6P9G7|Q8WU83|Q96DM9|Q9H6V2|Q9NTA7	Missense_Mutation	SNP	ENST00000374270.3	37	c.1670G>A	CCDS6783.1	.	.	.	.	.	.	.	.	.	.	c	0.646	-0.811500	0.02798	.	.	ENSG00000106868	ENST00000374270;ENST00000374263;ENST00000374264	T;T;T	0.29655	1.56;1.56;1.56	4.96	-5.42	0.02640	.	2.196340	0.01674	N	0.025758	T	0.10766	0.0263	N	0.01048	-1.04	0.09310	N	1	B;B;B	0.06786	0.001;0.001;0.0	B;B;B	0.04013	0.001;0.0;0.0	T	0.30268	-0.9984	10	0.13470	T	0.59	0.8854	12.3327	0.55049	0.0:0.606:0.0:0.394	.	557;557;557	F8WAQ1;Q6UWL2-2;Q6UWL2	.;.;SUSD1_HUMAN	H	557	ENSP00000363388:R557H;ENSP00000363381:R557H;ENSP00000363382:R557H	ENSP00000363381:R557H	R	-	2	0	SUSD1	113880722	0.000000	0.05858	0.001000	0.08648	0.037000	0.13140	-0.501000	0.06398	-1.170000	0.02769	-1.065000	0.02276	CGT		0.493	SUSD1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053668.3	NM_022486		13	122	0	0	0	1	0	13	122					T	114840901	C	T	114840901	3	4	40	1	0	0	0	0	1	0	0	0	15404	536	19	1	597	1	SUSD1	9	114840901	Missense_Mutation	SNP	C	TCGA-CH-5790-01A-11D-1576-08		114840901	26372530	17	2168											
KIF5B	3799	broad.mit.edu	37	chr10	32337438	32337438	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttatacacttgctcttgagaTgtgcttgactggaacacccg	9	13	9	10	1	1	2	0	2	1	1	1	4	1	3	1	1	4	2	1	1	3	5			TCGA-CH-5790-01A-11D-1576-08	TCGA-CH-5790-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1730f32-f97d-49e7-beb7-593c8ca8a907	c66f09bd-db15-4633-aeba-4f579345c6d0	g.chr10:32337438T>C	ENST00000302418.4	-	2	625	c.168A>G	c.(166-168)acA>acG	p.T56T		NM_004521.2	NP_004512.1	P33176	KINH_HUMAN	kinesin family member 5B	56	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cellular protein metabolic process (GO:0044267)|cytoplasm organization (GO:0007028)|cytoskeleton-dependent intracellular transport (GO:0030705)|microtubule-based movement (GO:0007018)|plus-end-directed vesicle transport along microtubule (GO:0072383)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of potassium ion transport (GO:0043268)|regulation of membrane potential (GO:0042391)|stress granule disassembly (GO:0035617)|vesicle transport along microtubule (GO:0047496)	ciliary rootlet (GO:0035253)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule organizing center (GO:0005815)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|vesicle (GO:0031982)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule binding (GO:0008017)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)	p.T56T(1)	KIF5B/ALK(8)|KIF5B/RET(79)	NS(2)|breast(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(11)|ovary(1)|prostate(1)	35		Prostate(175;0.0137)				GCTCTTGAGATGTGCTTGACT	0.338			T	"RET, ALK"	NSCLC																																	ENST00000302418.4				Dom	yes		10	10p11.22	3799	T	kinesin family member 5B			E	"RET, ALK"		NSCLC	KIF5B/ALK(8)|KIF5B/RET(79)	1	Substitution - coding silent(1)	p.T56T(1)	prostate(1)	NS(2)|breast(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(11)|ovary(1)|prostate(1)	35						c.(166-168)acA>acG		kinesin family member 5B							134	129	131					10																	32337438		2203	4300	6503	SO:0001819	synonymous_variant	3799				stress granule disassembly|vesicle transport along microtubule	kinesin complex|microtubule|perinuclear region of cytoplasm|vesicle	ATP binding|microtubule binding|microtubule motor activity	g.chr10:32337438T>C	X65873	CCDS7171.1	10p11.22	2007-02-13			ENSG00000170759	ENSG00000170759		"Kinesins"	6324	protein-coding gene	gene with protein product		602809		KNS1		1607388	Standard	NM_004521		Approved	KNS	uc001iwe.4	P33176	OTTHUMG00000017913	ENST00000302418.4:c.168A>G	10.37:g.32337438T>C							p.T56T	NM_004521.2	NP_004512.1	P33176	KINH_HUMAN			2	625	-		Prostate(175;0.0137)	56			Kinesin-motor.		A0AVB2|Q5VZ85	Silent	SNP	ENST00000302418.4	37	c.168A>G	CCDS7171.1																																																																																				0.338	KIF5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047467.1	NM_004521		5	134	0	0	0	1	0	5	134					C	32337438	T	C	32337438	2	2	40	1	0	0	0	0	0	0	0	1	8306	1451	51	4		4	KIF5B	10	32337438	Silent	SNP	T	TCGA-CH-5790-01A-11D-1576-08		32337438	103197309	18	2169											
C10orf79	80217	broad.mit.edu	37	chr10	105922136	105922136	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	attctttggctttgtgccacGgcttaatgtgtttgtgggct	4	18	12	7	1	1	0	0	0	1	0	1	0	1	0	1	3	1	4	1	3	1	5			TCGA-CH-5790-01A-11D-1576-08	TCGA-CH-5790-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1730f32-f97d-49e7-beb7-593c8ca8a907	c66f09bd-db15-4633-aeba-4f579345c6d0	g.chr10:105922136G>A	ENST00000357060.3	-	25	3387	c.3272C>T	c.(3271-3273)cCg>cTg	p.P1091L	WDR96_ENST00000428666.1_Missense_Mutation_p.P1092L	NM_025145.5	NP_079421.5												p.P1091L(2)		NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(14)|lung(21)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						TTTGTGCCACGGCTTAATGTG	0.403																																						ENST00000357060.3																			2	Substitution - Missense(2)	p.P1091L(2)	prostate(1)|breast(1)	NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(14)|lung(21)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						c.(3271-3273)cCg>cTg		WD repeat domain 96							168	136	147					10																	105922136		2203	4300	6503	SO:0001583	missense	80217							g.chr10:105922136G>A																												ENST00000357060.3:c.3272C>T	10.37:g.105922136G>A	ENSP00000349568:p.Pro1091Leu					WDR96_ENST00000428666.1_Missense_Mutation_p.P1092L	p.P1091L	NM_025145.5	NP_079421.5	Q8NDM7	WDR96_HUMAN			25	3387	-			1091						Missense_Mutation	SNP	ENST00000357060.3	37	c.3272C>T	CCDS31281.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.21|13.21	2.167991|2.167991	0.38315|0.38315	.|.	.|.	ENSG00000197748|ENSG00000197748	ENST00000357060;ENST00000428666|ENST00000434629	T;T|.	0.18502|.	2.21;2.21|.	5.3|5.3	4.36|4.36	0.52297|0.52297	.|.	0.138776|.	0.48767|.	N|.	0.000166|.	T|T	0.59307|0.59307	0.2184|0.2184	M|M	0.79693|0.79693	2.465|2.465	0.19575|0.19575	N|N	0.999968|0.999968	P;D|.	0.56035|.	0.95;0.974|.	P;P|.	0.48982|.	0.597;0.543|.	T|T	0.53500|0.53500	-0.8430|-0.8430	10|5	0.23891|.	T|.	0.37|.	.|.	9.4421|9.4421	0.38675|0.38675	0.1037:0.0:0.8963:0.0|0.1037:0.0:0.8963:0.0	.|.	1092;1091|.	G5E9L1;Q8NDM7|.	.;WDR96_HUMAN|.	L|C	1091;1092|452	ENSP00000349568:P1091L;ENSP00000400289:P1092L|.	ENSP00000349568:P1091L|.	P|R	-|-	2|1	0|0	WDR96|WDR96	105912126|105912126	0.017000|0.017000	0.18338|0.18338	0.002000|0.002000	0.10522|0.10522	0.006000|0.006000	0.05464|0.05464	2.033000|2.033000	0.41136|0.41136	1.296000|1.296000	0.44742|0.44742	0.542000|0.542000	0.68232|0.68232	CCG|CGT		0.403	WDR96-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				5	182	0	0	0	1	0	5	182					A	105922136	G	A	105922136	3	1	40	1	0	0	0	0	1	0	0	0	1618	1116	39	2	1781	2	C10orf79	10	105922136	Missense_Mutation	SNP	G	TCGA-CH-5790-01A-11D-1576-08	73584698	105922136	29612611	19	2170											
OR10A4	283297	broad.mit.edu	37	chr11	6898608	6898608	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggcattctccacctgttccGcccacctcttggttgtctct	4	14	7	16	1	3	0	0	0	3	0	6	0	4	0	5	2	0	3	5	2	0	4	rs199861369		TCGA-CH-5790-01A-11D-1576-08	TCGA-CH-5790-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1730f32-f97d-49e7-beb7-593c8ca8a907	c66f09bd-db15-4633-aeba-4f579345c6d0	g.chr11:6898608G>A	ENST00000379829.2	+	1	753	c.730G>A	c.(730-732)Gcc>Acc	p.A244T		NM_207186.2	NP_997069.2	Q9H209	O10A4_HUMAN	olfactory receptor, family 10, subfamily A, member 4	244					axon guidance (GO:0007411)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A244T(2)		kidney(1)|large_intestine(2)|liver(2)|lung(20)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	31		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		CACCTGTTCCGCCCACCTCTT	0.527																																						ENST00000379829.2																			2	Substitution - Missense(2)	p.A244T(2)	prostate(1)|lung(1)	kidney(1)|large_intestine(2)|liver(2)|lung(20)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	31						c.(730-732)Gcc>Acc		olfactory receptor, family 10, subfamily A, member 4			THR/ALA	1,4401	2.1+/-5.4	0,1,2200	200	149	167		730	3.2	1	11		167	1,8591	1.2+/-3.3	0,1,4295	yes	missense	OR10A4	NM_207186.2	58	0,2,6495	AA,AG,GG		0.0116,0.0227,0.0154	benign	244/316	6898608	2,12992	2201	4296	6497	SO:0001583	missense	283297				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:6898608G>A	AF209506	CCDS7774.1	11p15.4	2012-08-09	2002-11-13	2004-03-10	ENSG00000170782	ENSG00000170782		"GPCR / Class A : Olfactory receptors"	15130	protein-coding gene	gene with protein product			"olfactory receptor, family 10, subfamily A, member 4 pseudogene"	OR10A4P			Standard	NM_207186		Approved		uc010rat.2	Q9H209	OTTHUMG00000165740	ENST00000379829.2:c.730G>A	11.37:g.6898608G>A	ENSP00000369157:p.Ala244Thr						p.A244T	NM_207186.2	NP_997069.2	Q9H209	O10A4_HUMAN		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)	1	753	+		Medulloblastoma(188;0.0523)|all_neural(188;0.236)	244					B2RNP5|B9EH36|Q96R20	Missense_Mutation	SNP	ENST00000379829.2	37	c.730G>A	CCDS7774.1	.	.	.	.	.	.	.	.	.	.	g	12.73	2.025628	0.35701	2.27E-4	1.16E-4	ENSG00000170782	ENST00000379829	T	0.37235	1.21	4.32	3.19	0.36642	GPCR, rhodopsin-like superfamily (1);	0.000000	0.44483	D	0.000447	T	0.33990	0.0882	L	0.59436	1.845	0.22601	N	0.998948	B	0.09022	0.002	B	0.17098	0.017	T	0.36578	-0.9742	10	0.87932	D	0	.	9.8659	0.41142	0.0:0.0:0.1728:0.8271	.	244	Q9H209	O10A4_HUMAN	T	244	ENSP00000369157:A244T	ENSP00000369157:A244T	A	+	1	0	OR10A4	6855184	0.615000	0.27026	1.000000	0.80357	0.964000	0.63967	0.780000	0.26760	0.982000	0.38575	-0.272000	0.10252	GCC		0.527	OR10A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385985.1	NM_207186		15	157	0	0	0	1	0	15	157					A	6898608	G	A	6898608	3	1	40	1	0	0	0	0	1	0	0	0	10892	1087	38	1	732	1	OR10A4	11	6898608	Missense_Mutation	SNP	G	TCGA-CH-5790-01A-11D-1576-08		6898608	128107908	20	2171											
NAV2	89797	broad.mit.edu	37	chr11	20119232	20119232	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caacacttccgaaacaccggAgctgcttccttgtggctatc	9	10	8	14	2	0	0	0	0	0	0	3	2	2	1	3	2	4	3	3	2	3	4			TCGA-CH-5790-01A-11D-1576-08	TCGA-CH-5790-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1730f32-f97d-49e7-beb7-593c8ca8a907	c66f09bd-db15-4633-aeba-4f579345c6d0	g.chr11:20119232A>G	ENST00000396087.3	+	34	6398	c.6299A>G	c.(6298-6300)gAg>gGg	p.E2100G	NAV2_ENST00000360655.4_Missense_Mutation_p.E1977G|NAV2_ENST00000540292.1_Missense_Mutation_p.E2031G|NAV2_ENST00000349880.4_Missense_Mutation_p.E2041G|NAV2_ENST00000396085.1_Missense_Mutation_p.E2044G|NAV2_ENST00000527559.2_Missense_Mutation_p.E2029G|NAV2_ENST00000311043.8_Missense_Mutation_p.E1105G|NAV2_ENST00000533917.1_Missense_Mutation_p.E1105G	NM_001244963.1	NP_001231892.1	Q8IVL1	NAV2_HUMAN	neuron navigator 2	2100					glossopharyngeal nerve development (GO:0021563)|locomotory behavior (GO:0007626)|optic nerve development (GO:0021554)|regulation of systemic arterial blood pressure by baroreceptor feedback (GO:0003025)|sensory perception of smell (GO:0007608)|sensory perception of sound (GO:0007605)|vagus nerve development (GO:0021564)	interstitial matrix (GO:0005614)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|heparin binding (GO:0008201)	p.E2100G(1)		NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						GAAACACCGGAGCTGCTTCCT	0.493																																						ENST00000396085.1																			1	Substitution - Missense(1)	p.E2100G(1)	prostate(1)	NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						c.(6130-6132)gAg>gGg		neuron navigator 2							150	142	144					11																	20119232		2203	4300	6503	SO:0001583	missense	89797					nucleus	ATP binding|helicase activity	g.chr11:20119232A>G	AB037840	CCDS7850.1, CCDS7851.2, CCDS44552.1, CCDS53612.1, CCDS58126.1	11p15.1	2008-07-18			ENSG00000166833	ENSG00000166833	3.6.1.1		15997	protein-coding gene	gene with protein product	"pore membrane and/or filament interacting like protein 2", "retinoic acid inducible gene in neuroblastoma 1", "helicase, APC down-regulated 1"	607026				12079279, 12062803	Standard	NM_145117		Approved	FLJ10633, FLJ11030, HELAD1, KIAA1419, POMFIL2, RAINB1, FLJ23707	uc010rdm.2	Q8IVL1	OTTHUMG00000151837	ENST00000396087.3:c.6299A>G	11.37:g.20119232A>G	ENSP00000379396:p.Glu2100Gly					NAV2_ENST00000360655.4_Missense_Mutation_p.E1977G|NAV2_ENST00000311043.8_Missense_Mutation_p.E1105G|NAV2_ENST00000349880.4_Missense_Mutation_p.E2041G|NAV2_ENST00000396087.3_Missense_Mutation_p.E2100G|NAV2_ENST00000527559.2_Missense_Mutation_p.E2029G|NAV2_ENST00000540292.1_Missense_Mutation_p.E2031G|NAV2_ENST00000533917.1_Missense_Mutation_p.E1105G	p.E2044G	NM_182964.5	NP_892009.3	Q8IVL1	NAV2_HUMAN			32	6492	+			2100					A6NEC1|Q8IVK3|Q8IVK4|Q8IVK5|Q8IVK6|Q8IVK7|Q8IVK8|Q8NHC9|Q8NHD0|Q8TDE9|Q8TDF0|Q8TEB3|Q96B30|Q9NUZ6|Q9NVM7|Q9P2C8	Missense_Mutation	SNP	ENST00000396087.3	37	c.6131A>G	CCDS58126.1	.	.	.	.	.	.	.	.	.	.	A	27.3	4.816237	0.90790	.	.	ENSG00000166833	ENST00000360655;ENST00000396085;ENST00000349880;ENST00000396087;ENST00000527559;ENST00000540292;ENST00000533917;ENST00000311043	T;T;T;T;T;T;T;T	0.34472	1.36;1.47;1.46;1.5;1.39;1.39;2.99;2.99	6.08	6.08	0.98989	.	0.000000	0.64402	D	0.000002	T	0.63474	0.2514	M	0.81341	2.54	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.997;0.999;0.998	T	0.65721	-0.6099	9	.	.	.	.	16.3053	0.82846	1.0:0.0:0.0:0.0	.	2044;1105;2041;1977	A7E2D6;Q8IVL1-5;Q8IVL1-3;Q8IVL1-4	.;.;.;.	G	1977;2044;2041;2100;2029;2031;1105;1105	ENSP00000353871:E1977G;ENSP00000379394:E2044G;ENSP00000309577:E2041G;ENSP00000379396:E2100G;ENSP00000435395:E2029G;ENSP00000443489:E2031G;ENSP00000437316:E1105G;ENSP00000312169:E1105G	.	E	+	2	0	NAV2	20075808	1.000000	0.71417	0.999000	0.59377	0.698000	0.40448	9.339000	0.96797	2.333000	0.79357	0.533000	0.62120	GAG		0.493	NAV2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324112.1	NM_145117		8	135	0	0	0	1	0	8	135					G	20119232	A	G	20119232	3	3	40	1	0	0	0	0	1	0	0	0	10184	304	11	4	6362	4	NAV2	11	20119232	Missense_Mutation	SNP	A	TCGA-CH-5790-01A-11D-1576-08	13220624	20119232	114887284	21	2172											
CASP1	834	broad.mit.edu	37	chr11	104897573	104897573	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tccactagcatcttaccttgCggaaaatttcctccacatca	11	12	4	14	1	2	0	1	0	1	0	5	1	5	1	4	1	3	1	4	1	4	4	rs148018877		TCGA-CH-5790-01A-11D-1576-08	TCGA-CH-5790-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1730f32-f97d-49e7-beb7-593c8ca8a907	c66f09bd-db15-4633-aeba-4f579345c6d0	g.chr11:104897573C>T	ENST00000533400.1	-	8	1147	c.1112G>A	c.(1111-1113)cGc>cAc	p.R371H	CASP1_ENST00000415981.2_Missense_Mutation_p.R55H|CASP1_ENST00000593315.1_Missense_Mutation_p.R350H|CASP1_ENST00000353247.5_Missense_Mutation_p.R55H|CASP1_ENST00000393136.4_Missense_Mutation_p.R350H|CASP1_ENST00000534497.1_Missense_Mutation_p.R230H|CASP1_ENST00000526568.1_Missense_Mutation_p.R278H|CASP1_ENST00000527979.1_Missense_Mutation_p.R334H|CASP1_ENST00000525825.1_Missense_Mutation_p.R350H|CASP1_ENST00000598974.1_Missense_Mutation_p.R371H|CASP1_ENST00000594519.1_Missense_Mutation_p.R230H|CASP1_ENST00000446369.1_Missense_Mutation_p.R230H|CASP1_ENST00000528974.1_3'UTR|CASP1_ENST00000436863.3_Missense_Mutation_p.R371H|CASP1_ENST00000531166.1_Missense_Mutation_p.R55H	NM_001257118.1	NP_001244047.1	P29466	CASP1_HUMAN	caspase 1, apoptosis-related cysteine peptidase	371					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|cellular response to mechanical stimulus (GO:0071260)|cellular response to organic substance (GO:0071310)|execution phase of apoptosis (GO:0097194)|innate immune response (GO:0045087)|interleukin-1 beta production (GO:0032611)|membrane hyperpolarization (GO:0060081)|mitochondrial depolarization (GO:0051882)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-1 alpha secretion (GO:0050717)|positive regulation of interleukin-1 beta secretion (GO:0050718)|programmed necrotic cell death (GO:0097300)|proteolysis (GO:0006508)|pyroptosis (GO:0070269)|regulation of inflammatory response (GO:0050727)|response to ATP (GO:0033198)|response to hypoxia (GO:0001666)|response to lipopolysaccharide (GO:0032496)|signal transduction (GO:0007165)	AIM2 inflammasome complex (GO:0097169)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|IPAF inflammasome complex (GO:0072557)|NLRP1 inflammasome complex (GO:0072558)|NLRP3 inflammasome complex (GO:0072559)	cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|cysteine-type endopeptidase activity (GO:0004197)|endopeptidase activity (GO:0004175)	p.R371H(1)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)	5		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)		BRCA - Breast invasive adenocarcinoma(274;0.000525)|Epithelial(105;0.0128)|all cancers(92;0.0482)	Minocycline(DB01017)	TCTTACCTTGCGGAAAATTTC	0.408																																					NSCLC(41;1246 1743 4934)	ENST00000533400.1																			1	Substitution - Missense(1)	p.R371H(1)	prostate(1)	haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)	5						c.(1111-1113)cGc>cAc		caspase 1, apoptosis-related cysteine peptidase	Minocycline(DB01017)|Penicillamine(DB00859)	C	HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG	1,4403		0,1,2201	107	96	99		1049,1112,833,689,164	2.5	1	11	dbSNP_134	99	0,8598		0,0,4299	no	missense,missense,missense,missense,missense	CASP1	NM_001223.3,NM_033292.2,NM_033293.2,NM_033294.2,NM_033295.2	29,29,29,29,29	0,1,6500	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	350/384,371/405,278/312,230/264,55/89	104897573	1,13001	2202	4299	6501	SO:0001583	missense	834				cellular response to mechanical stimulus|cellular response to organic substance|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis|signal transduction	cytosol	caspase activator activity|cysteine-type endopeptidase activity|protein binding	g.chr11:104897573C>T	U13697	CCDS8329.1, CCDS8330.1, CCDS8331.1, CCDS8332.1, CCDS53704.1	11q23	2012-02-29	2012-02-29		ENSG00000137752	ENSG00000137752		"Caspases"	1499	protein-coding gene	gene with protein product	"caspase-1", "interleukin 1, beta, convertase"	147678	"caspase 1, apoptosis-related cysteine protease (interleukin 1, beta, convertase)", "caspase 1, apoptosis-related cysteine peptidase (interleukin 1, beta, convertase)"	IL1BC		1373520, 9250871	Standard	NM_033292		Approved	ICE	uc001pim.5	P29466	OTTHUMG00000048072	ENST00000533400.1:c.1112G>A	11.37:g.104897573C>T	ENSP00000433138:p.Arg371His					CASP1_ENST00000594519.1_Missense_Mutation_p.R230H|CASP1_ENST00000534497.1_Missense_Mutation_p.R230H|CASP1_ENST00000527979.1_Missense_Mutation_p.R334H|CASP1_ENST00000531166.1_Missense_Mutation_p.R55H|CASP1_ENST00000593315.1_Missense_Mutation_p.R350H|CASP1_ENST00000528974.1_3'UTR|CASP1_ENST00000598974.1_Missense_Mutation_p.R371H|CASP1_ENST00000526568.1_Missense_Mutation_p.R278H|CASP1_ENST00000446369.1_Missense_Mutation_p.R230H|CASP1_ENST00000415981.2_Missense_Mutation_p.R55H|CASP1_ENST00000525825.1_Missense_Mutation_p.R350H|CASP1_ENST00000436863.3_Missense_Mutation_p.R371H|CASP1_ENST00000393136.4_Missense_Mutation_p.R350H|CASP1_ENST00000353247.5_Missense_Mutation_p.R55H	p.R371H	NM_001257118.1	NP_001244047.1	P29466	CASP1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.000525)|Epithelial(105;0.0128)|all cancers(92;0.0482)	8	1147	-		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)	371					B5MDZ1|Q53EY6|Q6DMQ1|Q6GSS3|Q6PI75|Q9UCN3	Missense_Mutation	SNP	ENST00000533400.1	37	c.1112G>A	CCDS8330.1	.	.	.	.	.	.	.	.	.	.	.	10.24	1.296154	0.23650	2.27E-4	0.0	ENSG00000137752	ENST00000532439;ENST00000526568;ENST00000527979;ENST00000533400;ENST00000436863;ENST00000415981;ENST00000446369;ENST00000353247;ENST00000393136;ENST00000525825;ENST00000531166;ENST00000534497	T;T;T;T;T;T;T;T;T;T;T;T	0.45276	4.01;4.01;4.01;4.01;4.01;0.9;0.9;0.9;4.01;4.01;0.9;0.9	4.35	2.46	0.29980	Peptidase C14, caspase catalytic (1);Peptidase C14, caspase non-catalytic subunit p10 (1);Peptidase C14, caspase precursor p45, core (1);	0.368774	0.26979	N	0.021532	T	0.48892	0.1525	L	0.53561	1.675	0.37399	D	0.912756	B;B;D;D;D;D;D	0.64830	0.333;0.219;0.968;0.992;0.994;0.992;0.968	B;B;P;P;D;P;P	0.63597	0.061;0.034;0.598;0.806;0.916;0.806;0.616	T	0.51442	-0.8705	10	0.45353	T	0.12	.	3.9992	0.09572	0.1863:0.6134:0.0:0.2003	.	55;230;371;350;371;334;278	P29466-5;P29466-4;A8K249;P29466-2;P29466;G3V169;P29466-3	.;.;.;.;CASP1_HUMAN;.;.	H	220;278;334;371;371;55;230;55;350;350;55;230	ENSP00000435536:R220H;ENSP00000434250:R278H;ENSP00000432340:R334H;ENSP00000433138:R371H;ENSP00000410076:R371H;ENSP00000408446:R55H;ENSP00000403260:R230H;ENSP00000344132:R55H;ENSP00000376844:R350H;ENSP00000434779:R350H;ENSP00000434303:R55H;ENSP00000436875:R230H	ENSP00000344132:R55H	R	-	2	0	CASP1	104402783	0.997000	0.39634	0.978000	0.43139	0.363000	0.29612	0.641000	0.24720	0.576000	0.29452	0.460000	0.39030	CGC		0.408	CASP1-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388116.1	NM_033292		8	118	0	0	0	1	0	8	118					T	104897573	C	T	104897573	3	4	40	1	0	0	0	0	1	0	0	0	2668	768	27	1	110	1	CASP1	11	104897573	Missense_Mutation	SNP	C	TCGA-CH-5790-01A-11D-1576-08	84778341	104897573	30108943	22	2173											
GNB3	2784	broad.mit.edu	37	chr12	6950751	6950751	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgtctgctttccctgcaggAtgccaggaaagcctgtgctg	7	11	12	11	0	1	0	0	0	1	0	2	2	2	2	3	2	5	3	3	2	1	1			TCGA-CH-5790-01A-11D-1576-08	TCGA-CH-5790-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1730f32-f97d-49e7-beb7-593c8ca8a907	c66f09bd-db15-4633-aeba-4f579345c6d0	g.chr12:6950751A>G	ENST00000229264.3	+	4	464	c.59A>G	c.(58-60)gAt>gGt	p.D20G	LEPREL2_ENST00000251761.8_RNA|GNB3_ENST00000435982.2_Splice_Site_p.D20G|LEPREL2_ENST00000396725.2_RNA|LEPREL2_ENST00000606935.1_RNA	NM_002075.2	NP_002066.1	P16520	GBB3_HUMAN	guanine nucleotide binding protein (G protein), beta polypeptide 3	20					cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|G-protein coupled receptor signaling pathway (GO:0007186)|GTP catabolic process (GO:0006184)|regulation of blood pressure (GO:0008217)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cell body (GO:0044297)|extracellular vesicular exosome (GO:0070062)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	GTPase activity (GO:0003924)|GTPase binding (GO:0051020)|signal transducer activity (GO:0004871)	p.D20G(1)		cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)|stomach(1)	20						TCCCTGCAGGATGCCAGGAAA	0.667																																						ENST00000229264.3																			1	Substitution - Missense(1)	p.D20G(1)	prostate(1)	cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)|stomach(1)	20						c.e4-1		guanine nucleotide binding protein (G protein), beta polypeptide 3							52	47	49					12																	6950751		2203	4300	6503	SO:0001630	splice_region_variant	2784				cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|regulation of blood pressure|synaptic transmission	plasma membrane	GTPase activity|GTPase binding|signal transducer activity	g.chr12:6950751A>G		CCDS8564.1, CCDS73427.1	12p13	2013-01-10			ENSG00000111664	ENSG00000111664		"WD repeat domain containing"	4400	protein-coding gene	gene with protein product		139130				11770079, 16600389	Standard	XM_005253680		Approved		uc001qrd.3	P16520	OTTHUMG00000168517	ENST00000229264.3:c.58-1A>G	12.37:g.6950751A>G						GNB3_ENST00000435982.2_Splice_Site_p.D20_splice	p.D20_splice	NM_002075.2	NP_002066.1	P16520	GBB3_HUMAN			4	464	+			20					Q96B71|Q9BQC0	Splice_Site	SNP	ENST00000229264.3	37	c.57_splice	CCDS8564.1	.	.	.	.	.	.	.	.	.	.	A	17.12	3.307185	0.60305	.	.	ENSG00000111664	ENST00000229264;ENST00000541257;ENST00000541978;ENST00000435982;ENST00000537035	T;T;T;T	0.01323	5.01;5.01;5.01;5.01	4.22	4.22	0.49857	WD40 repeat-like-containing domain (1);	0.103999	0.64402	D	0.000004	T	0.02727	0.0082	L	0.53561	1.675	0.58432	D	0.999997	B;B	0.20052	0.041;0.041	B;B	0.32149	0.141;0.141	T	0.51044	-0.8755	10	0.41790	T	0.15	-10.3162	13.6229	0.62146	1.0:0.0:0.0:0.0	.	20;20	E9PCP0;P16520	.;GBB3_HUMAN	G	20	ENSP00000229264:D20G;ENSP00000442002:D20G;ENSP00000414734:D20G;ENSP00000445967:D20G	ENSP00000229264:D20G	D	+	2	0	GNB3	6821012	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.528000	0.81941	1.698000	0.51180	0.459000	0.35465	GAT		0.667	GNB3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400006.1	NM_002075	Missense_Mutation	12	28	0	0	0	1	0	12	28					G	6950751	A	G	6950751	5	3	40	1	0	0	0	0	0	0	1	0	6519	347	12	4	65	4	GNB3	12	6950751	Splice_Site	SNP	A	TCGA-CH-5790-01A-11D-1576-08		6950751	126901144	23	2174											
SLC38A1	81539	broad.mit.edu	37	chr12	46594935	46594935	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagtacataacaaacatggCgaaaaaggagatgtttgaaa	20	7	10	4	1	0	2	0	1	0	1	0	5	0	2	0	2	3	2	0	2	7	3	rs373500724		TCGA-CH-5790-01A-11D-1576-08	TCGA-CH-5790-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1730f32-f97d-49e7-beb7-593c8ca8a907	c66f09bd-db15-4633-aeba-4f579345c6d0	g.chr12:46594935C>T	ENST00000398637.5	-	13	1643	c.949G>A	c.(949-951)Gcc>Acc	p.A317T	SLC38A1_ENST00000552197.1_Missense_Mutation_p.A317T|SLC38A1_ENST00000546893.1_Missense_Mutation_p.A317T|SLC38A1_ENST00000549049.1_Missense_Mutation_p.A317T|SLC38A1_ENST00000549633.1_5'UTR|SLC38A1_ENST00000439706.1_Missense_Mutation_p.A317T	NM_001077484.1|NM_001278387.1|NM_001278388.1|NM_001278389.1|NM_030674.3	NP_001070952.1|NP_001265316.1|NP_001265317.1|NP_001265318.1|NP_109599.3	Q9H2H9	S38A1_HUMAN	solute carrier family 38, member 1	317					amino acid transmembrane transport (GO:0003333)|amino acid transport (GO:0006865)|ion transport (GO:0006811)|neurotransmitter uptake (GO:0001504)|neutral amino acid transport (GO:0015804)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	neutral amino acid transmembrane transporter activity (GO:0015175)|sodium:amino acid symporter activity (GO:0005283)	p.A317T(1)		NS(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(2)	23	Lung SC(27;0.137)|Renal(347;0.236)		all cancers(1;0.00805)|OV - Ovarian serous cystadenocarcinoma(5;0.0106)|Epithelial(2;0.0344)			ACAAACATGGCGAAAAAGGAG	0.289																																						ENST00000398637.5																			1	Substitution - Missense(1)	p.A317T(1)	prostate(1)	NS(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(2)	23						c.(949-951)Gcc>Acc		solute carrier family 38, member 1							68	63	64					12																	46594935		1811	4076	5887	SO:0001583	missense	81539				cellular nitrogen compound metabolic process|neurotransmitter uptake	integral to membrane|plasma membrane	sodium:amino acid symporter activity	g.chr12:46594935C>T	AF271070	CCDS41774.1, CCDS61106.1	12q13.11	2013-05-22				ENSG00000111371		"Solute carriers"	13447	protein-coding gene	gene with protein product		608490				10891391	Standard	NM_030674		Approved	ATA1, NAT2, SAT1	uc001rpc.3	Q9H2H9		ENST00000398637.5:c.949G>A	12.37:g.46594935C>T	ENSP00000381634:p.Ala317Thr					SLC38A1_ENST00000549049.1_Missense_Mutation_p.A317T|SLC38A1_ENST00000552197.1_Missense_Mutation_p.A317T|SLC38A1_ENST00000546893.1_Missense_Mutation_p.A317T|SLC38A1_ENST00000439706.1_Missense_Mutation_p.A317T|SLC38A1_ENST00000549633.1_5'UTR	p.A317T	NM_001077484.1|NM_001278387.1|NM_001278388.1|NM_001278389.1|NM_030674.3	NP_001070952.1|NP_001265316.1|NP_001265317.1|NP_001265318.1|NP_109599.3	Q9H2H9	S38A1_HUMAN	all cancers(1;0.00805)|OV - Ovarian serous cystadenocarcinoma(5;0.0106)|Epithelial(2;0.0344)		13	1643	-	Lung SC(27;0.137)|Renal(347;0.236)		317					Q8NC61|Q8NCF8|Q96JX2|Q9H2Q2	Missense_Mutation	SNP	ENST00000398637.5	37	c.949G>A	CCDS41774.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.949829	0.73787	.	.	ENSG00000111371	ENST00000549049;ENST00000439706;ENST00000398637;ENST00000546893;ENST00000552197	T;T;T;T;T	0.02323	4.34;4.34;4.34;4.34;4.34	5.53	3.61	0.41365	.	0.189006	0.36778	N	0.002415	T	0.02970	0.0088	N	0.25245	0.725	0.43642	D	0.996048	P;P;P	0.47762	0.9;0.87;0.784	P;P;B	0.44732	0.459;0.454;0.274	T	0.61287	-0.7093	10	0.38643	T	0.18	-16.7504	11.2565	0.49056	0.1286:0.8018:0.0:0.0696	.	317;317;317	B5MEC5;F8VX04;Q9H2H9	.;.;S38A1_HUMAN	T	317	ENSP00000449607:A317T;ENSP00000398142:A317T;ENSP00000381634:A317T;ENSP00000447853:A317T;ENSP00000449756:A317T	ENSP00000381634:A317T	A	-	1	0	SLC38A1	44881202	0.983000	0.35010	0.998000	0.56505	0.992000	0.81027	2.091000	0.41691	2.585000	0.87301	0.557000	0.71058	GCC		0.289	SLC38A1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404218.2			14	29	0	0	0	1	0	14	29					T	46594935	C	T	46594935	3	4	40	1	0	0	0	0	1	0	0	0	14601	768	27	1	534	1	SLC38A1	12	46594935	Missense_Mutation	SNP	C	TCGA-CH-5790-01A-11D-1576-08	39644184	46594935	87256960	24	2175											
PCK2	5106	broad.mit.edu	37	chr14	24572967	24572967	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acagtgcccgagagacacccAttgggctggtgccaaaggaa	12	5	13	11	1	0	1	0	0	0	1	0	4	0	2	3	3	2	1	3	3	2	1			TCGA-CH-5790-01A-11D-1576-08	TCGA-CH-5790-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1730f32-f97d-49e7-beb7-593c8ca8a907	c66f09bd-db15-4633-aeba-4f579345c6d0	g.chr14:24572967A>G	ENST00000216780.4	+	10	1985	c.1717A>G	c.(1717-1719)Att>Gtt	p.I573V	PCK2_ENST00000545054.2_Missense_Mutation_p.I439V|NRL_ENST00000561028.1_Intron|PCK2_ENST00000559250.1_Intron|PCK2_ENST00000558096.1_Missense_Mutation_p.I407V|PCK2_ENST00000561286.1_Missense_Mutation_p.I439V	NM_004563.2	NP_004554.2	Q16822	PCKGM_HUMAN	phosphoenolpyruvate carboxykinase 2 (mitochondrial)	573					carbohydrate metabolic process (GO:0005975)|cellular response to glucose stimulus (GO:0071333)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|NADH oxidation (GO:0006116)|oxaloacetate metabolic process (GO:0006107)|positive regulation of insulin secretion (GO:0032024)|pyruvate metabolic process (GO:0006090)|response to glucocorticoid (GO:0051384)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)|metal ion binding (GO:0046872)|phosphoenolpyruvate carboxykinase (GTP) activity (GO:0004613)|phosphoenolpyruvate carboxykinase activity (GO:0004611)	p.I573V(1)		breast(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	18				GBM - Glioblastoma multiforme(265;0.0184)		AGAGACACCCATTGGGCTGGT	0.607																																						ENST00000545054.2																			1	Substitution - Missense(1)	p.I573V(1)	prostate(1)	breast(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	18						c.(1315-1317)Att>Gtt		phosphoenolpyruvate carboxykinase 2 (mitochondrial)							77	81	80					14																	24572967		2203	4300	6503	SO:0001583	missense	5106				gluconeogenesis	mitochondrial matrix	GTP binding|metal ion binding|phosphoenolpyruvate carboxykinase (GTP) activity	g.chr14:24572967A>G	AK129934	CCDS9609.1, CCDS41928.1	14q12	2006-06-09			ENSG00000100889	ENSG00000100889	4.1.1.32		8725	protein-coding gene	gene with protein product		614095				8645161, 9657976	Standard	XM_005267726		Approved	PEPCK, PEPCK2	uc001wlt.3	Q16822	OTTHUMG00000028791	ENST00000216780.4:c.1717A>G	14.37:g.24572967A>G	ENSP00000216780:p.Ile573Val					PCK2_ENST00000216780.4_Missense_Mutation_p.I573V|PCK2_ENST00000559250.1_Intron|PCK2_ENST00000561286.1_Missense_Mutation_p.I439V|PCK2_ENST00000558096.1_Missense_Mutation_p.I407V|NRL_ENST00000561028.1_Intron	p.I439V			Q16822	PCKGM_HUMAN		GBM - Glioblastoma multiforme(265;0.0184)	10	2233	+			573					O43253|Q86U01|Q9BV62	Missense_Mutation	SNP	ENST00000216780.4	37	c.1315A>G	CCDS9609.1	.	.	.	.	.	.	.	.	.	.	A	13.25	2.181970	0.38511	.	.	ENSG00000100889	ENST00000216780;ENST00000545054	T;T	0.04862	3.54;3.54	5.69	4.4	0.53042	Phosphoenolpyruvate carboxykinase, C-terminal (1);	0.109638	0.64402	D	0.000005	T	0.08268	0.0206	M	0.62088	1.915	0.51482	D	0.999924	B;B	0.09022	0.002;0.001	B;B	0.15870	0.011;0.014	T	0.07046	-1.0793	10	0.54805	T	0.06	-14.6303	7.8426	0.29408	0.8757:0.0:0.1243:0.0	.	439;573	B4DW73;Q16822	.;PCKGM_HUMAN	V	573;439	ENSP00000216780:I573V;ENSP00000441826:I439V	ENSP00000216780:I573V	I	+	1	0	PCK2	23642807	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.193000	0.58385	2.306000	0.77630	0.533000	0.62120	ATT		0.607	PCK2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071900.3	NM_001018073		41	65	0	0	0	1	0	41	65					G	24572967	A	G	24572967	3	3	40	1	0	0	0	0	1	0	0	0	11582	217	8	4	1847	4	PCK2	14	24572967	Missense_Mutation	SNP	A	TCGA-CH-5790-01A-11D-1576-08		24572967	82776573	25	2176											
MLH3	27030	broad.mit.edu	37	chr14	75515946	75515946	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagtcccagcgcttgctctaGtcacatcagcttcacaagct	9	11	7	14	1	4	0	3	0	1	0	5	0	5	0	1	0	4	4	1	0	3	4			TCGA-CH-5790-01A-11D-1576-08	TCGA-CH-5790-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1730f32-f97d-49e7-beb7-593c8ca8a907	c66f09bd-db15-4633-aeba-4f579345c6d0	g.chr14:75515946G>C	ENST00000556740.1	-	1	448	c.413C>G	c.(412-414)aCt>aGt	p.T138S	MLH3_ENST00000555671.1_5'Flank|MLH3_ENST00000238662.7_Missense_Mutation_p.T138S|MLH3_ENST00000355774.2_Missense_Mutation_p.T138S|MLH3_ENST00000380968.2_5'UTR|MLH3_ENST00000544985.1_5'Flank|MLH3_ENST00000556257.1_Missense_Mutation_p.T138S			Q9UHC1	MLH3_HUMAN	mutL homolog 3	138					ATP catabolic process (GO:0006200)|female meiosis I (GO:0007144)|male meiosis (GO:0007140)|mismatch repair (GO:0006298)|protein localization (GO:0008104)|reciprocal meiotic recombination (GO:0007131)|synaptonemal complex assembly (GO:0007130)	chiasma (GO:0005712)|male germ cell nucleus (GO:0001673)|mismatch repair complex (GO:0032300)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|centromeric DNA binding (GO:0019237)|chromatin binding (GO:0003682)|mismatched DNA binding (GO:0030983)|satellite DNA binding (GO:0003696)|single-stranded DNA binding (GO:0003697)	p.T138S(2)		breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	44				BRCA - Breast invasive adenocarcinoma(234;0.00688)		GCTTGCTCTAGTCACATCAGC	0.428								Mismatch excision repair (MMR)																														ENST00000355774.2																			2	Substitution - Missense(2)	p.T138S(2)	prostate(2)	breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	44						c.(412-414)aCt>aGt	Mismatch excision repair (MMR)	mutL homolog 3							107	104	105					14																	75515946		2203	4300	6503	SO:0001583	missense	27030				mismatch repair|reciprocal meiotic recombination	chiasma|MutLbeta complex|synaptonemal complex	ATP binding|ATPase activity|mismatched DNA binding|protein binding|satellite DNA binding	g.chr14:75515946G>C	AF195657	CCDS9837.1, CCDS32123.1	14q24.3	2014-09-17	2013-09-12			ENSG00000119684			7128	protein-coding gene	gene with protein product		604395	"mutL (E. coli) homolog 3", "mutL homolog 3 (E. coli)"			10615123	Standard	XR_245681		Approved		uc001xrd.1	Q9UHC1		ENST00000556740.1:c.413C>G	14.37:g.75515946G>C	ENSP00000452316:p.Thr138Ser					MLH3_ENST00000556740.1_Missense_Mutation_p.T138S|MLH3_ENST00000380968.2_5'UTR|MLH3_ENST00000238662.7_Missense_Mutation_p.T138S|MLH3_ENST00000556257.1_Missense_Mutation_p.T138S	p.T138S	NM_001040108.1	NP_001035197.1	Q9UHC1	MLH3_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00688)	2	628	-			138					P49751|Q56DK9|Q9P292|Q9UHC0	Missense_Mutation	SNP	ENST00000556740.1	37	c.413C>G	CCDS32123.1	.	.	.	.	.	.	.	.	.	.	G	6.767	0.510466	0.12883	.	.	ENSG00000119684	ENST00000355774;ENST00000238662;ENST00000556257;ENST00000556740;ENST00000553263	D;D;D;D;D	0.90004	-2.6;-2.6;-2.6;-2.6;-2.6	5.57	1.66	0.24008	ATPase-like, ATP-binding domain (3);	0.550760	0.19714	N	0.107756	T	0.71230	0.3315	N	0.05330	-0.07	0.09310	N	1	B;B	0.14438	0.01;0.008	B;B	0.17433	0.007;0.018	T	0.55515	-0.8129	10	0.15952	T	0.53	-3.9701	3.6194	0.08090	0.1398:0.4225:0.2623:0.1754	.	138;138	Q9UHC1-2;Q9UHC1	.;MLH3_HUMAN	S	138	ENSP00000348020:T138S;ENSP00000238662:T138S;ENSP00000451540:T138S;ENSP00000452316:T138S;ENSP00000451192:T138S	ENSP00000238662:T138S	T	-	2	0	MLH3	74585699	0.900000	0.30661	0.973000	0.42090	0.760000	0.43138	0.680000	0.25306	0.290000	0.22444	-0.165000	0.13383	ACT		0.428	MLH3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415006.1	NM_014381		10	186	0	0	0	1	0	10	186					C	75515946	G	C	75515946	3	2	40	1	0	0	0	0	1	0	0	0	9618	1029	36	5	3996	5	MLH3	14	75515946	Missense_Mutation	SNP	G	TCGA-CH-5790-01A-11D-1576-08	50942979	75515946	31833594	26	2177											
ASB2	51676	broad.mit.edu	37	chr14	94420665	94420665	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcagagcccagccctcacctCgctgcaggactttcaggcag	8	7	10	16	1	3	1	3	0	0	1	4	2	3	2	3	2	3	3	3	2	0	1	rs375831081		TCGA-CH-5790-01A-11D-1576-08	TCGA-CH-5790-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1730f32-f97d-49e7-beb7-593c8ca8a907	c66f09bd-db15-4633-aeba-4f579345c6d0	g.chr14:94420665C>T	ENST00000315988.4	-	2	820	c.332G>A	c.(331-333)cGa>cAa	p.R111Q	ASB2_ENST00000556337.1_Intron|ASB2_ENST00000555019.1_Missense_Mutation_p.R159Q	NM_016150.4	NP_057234.2	Q96Q27	ASB2_HUMAN	ankyrin repeat and SOCS box containing 2	111					intracellular signal transduction (GO:0035556)|myoblast differentiation (GO:0045445)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|signal transduction (GO:0007165)|skeletal muscle cell differentiation (GO:0035914)	Cul5-RING ubiquitin ligase complex (GO:0031466)	ubiquitin-protein transferase activity (GO:0004842)	p.R111Q(2)		breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|soft_tissue(1)|urinary_tract(1)	27		all_cancers(154;0.13)		COAD - Colon adenocarcinoma(157;0.217)|Epithelial(152;0.232)		GCCCTCACCTCGCTGCAGGAC	0.612													C|||	1	0.000199681	8e-04	0	5008	,	,		18293	0		0	False		,,,				2504	0					ENST00000555019.1																			2	Substitution - Missense(2)	p.R111Q(2)	prostate(2)	breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|soft_tissue(1)|urinary_tract(1)	27						c.(475-477)cGa>cAa		ankyrin repeat and SOCS box containing 2		C	GLN/ARG,GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	61	54	56		476,332	-5.7	0.4	14		56	0,8600		0,0,4300	no	missense,missense	ASB2	NM_001202429.1,NM_016150.4	43,43	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign,benign	159/636,111/588	94420665	1,13005	2203	4300	6503	SO:0001583	missense	51676				intracellular signal transduction			g.chr14:94420665C>T	AF159164	CCDS9915.1, CCDS55940.1	14q31-q32	2013-01-10	2011-01-25					"Ankyrin repeat domain containing"	16012	protein-coding gene	gene with protein product		605759	"ankyrin repeat and SOCS box-containing 2"				Standard	NM_016150		Approved	ASB-2	uc001ycd.3	Q96Q27		ENST00000315988.4:c.332G>A	14.37:g.94420665C>T	ENSP00000320675:p.Arg111Gln					ASB2_ENST00000556337.1_Intron|ASB2_ENST00000315988.4_Missense_Mutation_p.R111Q	p.R159Q	NM_001202429.1	NP_001189358.1	Q96Q27	ASB2_HUMAN		COAD - Colon adenocarcinoma(157;0.217)|Epithelial(152;0.232)	4	906	-		all_cancers(154;0.13)	111					B2RDP9|B4E166|Q9NSU5|Q9Y567	Missense_Mutation	SNP	ENST00000315988.4	37	c.476G>A	CCDS9915.1	.	.	.	.	.	.	.	.	.	.	C	10.12	1.262405	0.23051	2.27E-4	0.0	ENSG00000100628	ENST00000555019;ENST00000434324;ENST00000315988;ENST00000543546;ENST00000555507;ENST00000556062;ENST00000555287	T;T;T;T;T	0.70986	2.41;2.41;0.67;-0.06;-0.53	5.54	-5.72	0.02406	Ankyrin repeat-containing domain (3);	0.749936	0.12469	N	0.466154	T	0.48892	0.1525	N	0.16708	0.43	0.09310	N	0.999998	B;B;B	0.12630	0.003;0.001;0.006	B;B;B	0.12156	0.003;0.001;0.007	T	0.34750	-0.9816	10	0.13470	T	0.59	-6.2996	15.9434	0.79776	0.0:0.2473:0.0:0.7527	.	127;159;111	B3KPZ6;B4E166;Q96Q27	.;.;ASB2_HUMAN	Q	159;127;111;57;57;57;77	ENSP00000451575:R159Q;ENSP00000320675:R111Q;ENSP00000450940:R57Q;ENSP00000451694:R57Q;ENSP00000451654:R77Q	ENSP00000320675:R111Q	R	-	2	0	ASB2	93490418	0.000000	0.05858	0.390000	0.26220	0.108000	0.19459	-1.232000	0.02936	-1.072000	0.03141	-0.140000	0.14226	CGA		0.612	ASB2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000412845.1			4	76	0	0	0	1	0	4	76					T	94420665	C	T	94420665	3	4	40	1	0	0	0	0	1	0	0	0	1023	884	31	2	1459	2	ASB2	14	94420665	Missense_Mutation	SNP	C	TCGA-CH-5790-01A-11D-1576-08	18904719	94420665	12928875	27	2178											
ALDH1A2	8854	broad.mit.edu	37	chr15	58306075	58306075	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcaagaactgccctgtccCgttccaccaagtctgcaagc	9	8	8	16	1	1	1	0	0	1	1	3	1	3	1	4	0	5	3	4	0	4	1			TCGA-CH-5790-01A-11D-1576-08	TCGA-CH-5790-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1730f32-f97d-49e7-beb7-593c8ca8a907	c66f09bd-db15-4633-aeba-4f579345c6d0	g.chr15:58306075C>G	ENST00000249750.4	-	3	1111	c.344G>C	c.(343-345)cGg>cCg	p.R115P	ALDH1A2_ENST00000537372.1_Missense_Mutation_p.R94P|ALDH1A2_ENST00000558231.1_Missense_Mutation_p.R86P|ALDH1A2_ENST00000347587.3_Missense_Mutation_p.R115P|ALDH1A2_ENST00000559517.1_Missense_Mutation_p.R19P	NM_003888.3	NP_003879.2	O94788	AL1A2_HUMAN	aldehyde dehydrogenase 1 family, member A2	115					9-cis-retinoic acid biosynthetic process (GO:0042904)|anterior/posterior pattern specification (GO:0009952)|blood vessel development (GO:0001568)|cardiac muscle tissue development (GO:0048738)|cellular response to retinoic acid (GO:0071300)|determination of bilateral symmetry (GO:0009855)|embryonic camera-type eye development (GO:0031076)|embryonic digestive tract development (GO:0048566)|embryonic forelimb morphogenesis (GO:0035115)|face development (GO:0060324)|heart morphogenesis (GO:0003007)|hindbrain development (GO:0030902)|kidney development (GO:0001822)|liver development (GO:0001889)|lung development (GO:0030324)|midgut development (GO:0007494)|morphogenesis of embryonic epithelium (GO:0016331)|negative regulation of cell proliferation (GO:0008285)|neural crest cell development (GO:0014032)|neural tube development (GO:0021915)|neuron differentiation (GO:0030182)|pancreas development (GO:0031016)|pituitary gland development (GO:0021983)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|proximal/distal pattern formation (GO:0009954)|regulation of endothelial cell proliferation (GO:0001936)|response to cytokine (GO:0034097)|response to estradiol (GO:0032355)|response to vitamin A (GO:0033189)|retinal metabolic process (GO:0042574)|retinoic acid metabolic process (GO:0042573)|retinoic acid receptor signaling pathway (GO:0048384)|retinol metabolic process (GO:0042572)|ureter maturation (GO:0035799)|vitamin A metabolic process (GO:0006776)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|perinuclear region of cytoplasm (GO:0048471)	3-chloroallyl aldehyde dehydrogenase activity (GO:0004028)|retinal binding (GO:0016918)|retinal dehydrogenase activity (GO:0001758)	p.R115P(1)		NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(15)|prostate(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(80;0.152)|all cancers(107;0.18)	Tretinoin(DB00755)|Vitamin A(DB00162)	TGCCCTGTCCCGTTCCACCAA	0.458																																						ENST00000249750.4																			1	Substitution - Missense(1)	p.R115P(1)	prostate(1)	NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(15)|prostate(1)|upper_aerodigestive_tract(1)	31						c.(343-345)cGg>cCg		aldehyde dehydrogenase 1 family, member A2	NADH(DB00157)|Tretinoin(DB00755)|Vitamin A(DB00162)						244	254	251					15																	58306075		2192	4292	6484	SO:0001583	missense	8854				negative regulation of cell proliferation|neural tube development|response to cytokine stimulus	nucleus	3-chloroallyl aldehyde dehydrogenase activity|retinal binding|retinal dehydrogenase activity	g.chr15:58306075C>G	AB015228	CCDS10163.1, CCDS10164.1, CCDS45266.1, CCDS55968.1	15q21.2	2011-02-18			ENSG00000128918	ENSG00000128918		"Aldehyde dehydrogenases"	15472	protein-coding gene	gene with protein product	"retinaldehyde dehydrogenase 2"	603687				9819382	Standard	NM_003888		Approved	RALDH2	uc002aex.3	O94788	OTTHUMG00000132624	ENST00000249750.4:c.344G>C	15.37:g.58306075C>G	ENSP00000249750:p.Arg115Pro					ALDH1A2_ENST00000558231.1_Missense_Mutation_p.R86P|ALDH1A2_ENST00000559517.1_Missense_Mutation_p.R19P|ALDH1A2_ENST00000537372.1_Missense_Mutation_p.R94P|ALDH1A2_ENST00000347587.3_Missense_Mutation_p.R115P	p.R115P	NM_003888.3	NP_003879.2	O94788	AL1A2_HUMAN		GBM - Glioblastoma multiforme(80;0.152)|all cancers(107;0.18)	3	1111	-			115					B3KY52|B4DZR2|F5H2Y9|H0YM00|Q2PJS6|Q8NHQ4|Q9UBR8|Q9UFY0	Missense_Mutation	SNP	ENST00000249750.4	37	c.344G>C	CCDS10163.1	.	.	.	.	.	.	.	.	.	.	C	16.06	3.016193	0.54468	.	.	ENSG00000128918	ENST00000249750;ENST00000430119;ENST00000543386;ENST00000347587;ENST00000537372	T;T;T	0.16597	2.33;2.33;2.33	4.68	4.68	0.58851	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, N-terminal (1);Aldehyde/histidinol dehydrogenase (1);	0.000000	0.85682	D	0.000000	T	0.48150	0.1484	M	0.85777	2.775	0.80722	D	1	D;D;D;D	0.89917	0.999;0.999;1.0;0.999	D;D;D;D	0.97110	0.971;0.95;1.0;0.985	T	0.57201	-0.7852	10	0.87932	D	0	.	17.798	0.88579	0.0:1.0:0.0:0.0	.	86;94;115;115	B4DH89;F5H2Y9;O94788-2;O94788	.;.;.;AL1A2_HUMAN	P	115;19;86;115;94	ENSP00000249750:R115P;ENSP00000309623:R115P;ENSP00000438296:R94P	ENSP00000249750:R115P	R	-	2	0	ALDH1A2	56093367	1.000000	0.71417	0.984000	0.44739	0.008000	0.06430	7.320000	0.79064	2.423000	0.82170	0.650000	0.86243	CGG		0.458	ALDH1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255869.1			19	532	0	0	0	1	0	19	532					G	58306075	C	G	58306075	3	3	40	1	0	0	0	0	1	0	0	0	491	652	23	5	1256	5	ALDH1A2	15	58306075	Missense_Mutation	SNP	C	TCGA-CH-5790-01A-11D-1576-08		58306075	44225317	28	2179											
ADCY9	115	broad.mit.edu	37	chr16	4016225	4016225	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctcttcgctcacctggatgcGgcactccacgccggtggtgt	4	10	12	15	4	2	0	1	0	1	0	4	1	3	1	3	4	1	2	3	4	0	1			TCGA-CH-5790-01A-11D-1576-08	TCGA-CH-5790-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1730f32-f97d-49e7-beb7-593c8ca8a907	c66f09bd-db15-4633-aeba-4f579345c6d0	g.chr16:4016225G>A	ENST00000294016.3	-	11	4151	c.3613C>T	c.(3613-3615)Cgc>Tgc	p.R1205C		NM_001116.3	NP_001107.2	O60503	ADCY9_HUMAN	adenylate cyclase 9	1205					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)	p.R1205C(1)		breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						ACCTGGATGCGGCACTCCACG	0.597																																						ENST00000294016.3																			1	Substitution - Missense(1)	p.R1205C(1)	prostate(1)	breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						c.(3613-3615)Cgc>Tgc		adenylate cyclase 9							153	133	139					16																	4016225		2197	4300	6497	SO:0001583	missense	115				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding	g.chr16:4016225G>A	AF036927	CCDS32382.1	16p13.3	2013-02-04				ENSG00000162104	4.6.1.1	"Adenylate cyclases"	240	protein-coding gene	gene with protein product		603302				9628827	Standard	NM_001116		Approved	AC9	uc002cvx.3	O60503		ENST00000294016.3:c.3613C>T	16.37:g.4016225G>A	ENSP00000294016:p.Arg1205Cys						p.R1205C	NM_001116.3	NP_001107.2	O60503	ADCY9_HUMAN			11	4151	-			1205					A7E2V5|A7E2X2|D3DUD1|O60273|Q4ZHT9|Q4ZIR5|Q9BWT4|Q9UGP2	Missense_Mutation	SNP	ENST00000294016.3	37	c.3613C>T	CCDS32382.1	.	.	.	.	.	.	.	.	.	.	G	27.2	4.813262	0.90707	.	.	ENSG00000162104	ENST00000294016	D	0.81821	-1.54	5.67	5.67	0.87782	Adenylyl cyclase class-3/4/guanylyl cyclase (4);	0.000000	0.85682	D	0.000000	D	0.89410	0.6707	M	0.66378	2.025	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.88933	0.3374	10	0.59425	D	0.04	.	20.1272	0.97986	0.0:0.0:1.0:0.0	.	1205	O60503	ADCY9_HUMAN	C	1205	ENSP00000294016:R1205C	ENSP00000294016:R1205C	R	-	1	0	ADCY9	3956226	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.813000	0.99286	2.828000	0.97474	0.655000	0.94253	CGC		0.597	ADCY9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438076.1			7	176	0	0	0	1	0	7	176					A	4016225	G	A	4016225	3	1	40	1	0	0	0	0	1	0	0	0	301	1116	39	2	452	2	ADCY9	16	4016225	Missense_Mutation	SNP	G	TCGA-CH-5790-01A-11D-1576-08		4016225	86338528	29	2180											
IRF8	3394	broad.mit.edu	37	chr16	85936702	85936702	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agcatgtatccaggactgatTtgggagaatgaggagaagag	14	8	15	4	0	0	5	0	2	0	3	1	8	1	6	1	3	1	2	1	3	3	2			TCGA-CH-5790-01A-11D-1576-08	TCGA-CH-5790-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1730f32-f97d-49e7-beb7-593c8ca8a907	c66f09bd-db15-4633-aeba-4f579345c6d0	g.chr16:85936702T>C	ENST00000268638.5	+	2	503	c.81T>C	c.(79-81)atT>atC	p.I27I	IRF8_ENST00000563180.1_Silent_p.I27I	NM_002163.2	NP_002154.1	Q02556	IRF8_HUMAN	interferon regulatory factor 8	27					cellular response to lipopolysaccharide (GO:0071222)|cytokine-mediated signaling pathway (GO:0019221)|defense response to bacterium (GO:0042742)|defense response to protozoan (GO:0042832)|immune response (GO:0006955)|interferon-gamma-mediated signaling pathway (GO:0060333)|myeloid cell differentiation (GO:0030099)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|phagocytosis (GO:0006909)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)|transcription from RNA polymerase II promoter (GO:0006366)|type I interferon signaling pathway (GO:0060337)	cytosol (GO:0005829)|nucleus (GO:0005634)	regulatory region DNA binding (GO:0000975)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)	p.I27I(1)		breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	24		Prostate(104;0.0771)				CAGGACTGATTTGGGAGAATG	0.478																																						ENST00000268638.5																			1	Substitution - coding silent(1)	p.I27I(1)	prostate(1)	breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	24						c.(79-81)atT>atC		interferon regulatory factor 8							180	170	173					16																	85936702		2198	4300	6498	SO:0001819	synonymous_variant	3394				interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	nucleus	DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity	g.chr16:85936702T>C	M91196	CCDS10956.1	16q24.1	2014-09-17	2004-11-12	2004-11-12	ENSG00000140968	ENSG00000140968			5358	protein-coding gene	gene with protein product		601565	"interferon consensus sequence binding protein 1"	ICSBP1		1460054, 11997525	Standard	NM_002163		Approved	IRF-8, ICSBP	uc002fjh.3	Q02556	OTTHUMG00000137648	ENST00000268638.5:c.81T>C	16.37:g.85936702T>C						IRF8_ENST00000563180.1_Silent_p.I27I	p.I27I	NM_002163.2	NP_002154.1	Q02556	IRF8_HUMAN			2	503	+		Prostate(104;0.0771)	27					A0AV82	Silent	SNP	ENST00000268638.5	37	c.81T>C	CCDS10956.1																																																																																				0.478	IRF8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269100.2	NM_002163		3	74	0	0	0	1	0	3	74					C	85936702	T	C	85936702	2	2	40	1	0	0	0	0	0	0	0	1	7836	1829	64	4		4	IRF8	16	85936702	Silent	SNP	T	TCGA-CH-5790-01A-11D-1576-08	81920477	85936702	4418051	30	2181											
PTPRM	5797	broad.mit.edu	37	chr18	8113637	8113637	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gaatttcctgcagacagcctCcaagctgcgcagccttttac	9	10	8	14	1	0	1	0	0	0	1	2	2	2	1	4	0	6	3	4	0	3	3			TCGA-CH-5790-01A-11D-1576-08	TCGA-CH-5790-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1730f32-f97d-49e7-beb7-593c8ca8a907	c66f09bd-db15-4633-aeba-4f579345c6d0	g.chr18:8113637C>A	ENST00000332175.8	+	12	3047	c.2010C>A	c.(2008-2010)ctC>ctA	p.L670L	PTPRM_ENST00000580170.1_Silent_p.L670L|PTPRM_ENST00000400053.4_Silent_p.L608L|PTPRM_ENST00000400060.4_Silent_p.L670L|PTPRM_ENST00000444013.1_Silent_p.L457L	NM_002845.3	NP_002836.3	P28827	PTPRM_HUMAN	protein tyrosine phosphatase, receptor type, M	670	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				homophilic cell adhesion (GO:0007156)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|neuron projection development (GO:0031175)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of vasodilation (GO:0045909)|protein dephosphorylation (GO:0006470)|response to drug (GO:0042493)|retina layer formation (GO:0010842)|retinal ganglion cell axon guidance (GO:0031290)|signal transduction (GO:0007165)	cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|perinuclear region of cytoplasm (GO:0048471)	cadherin binding (GO:0045296)|identical protein binding (GO:0042802)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.L670L(2)		breast(3)|central_nervous_system(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(32)|lung(25)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	90		Colorectal(10;0.234)				CAGACAGCCTCCAAGCTGCGC	0.423																																						ENST00000332175.8																			2	Substitution - coding silent(2)	p.L670L(2)	prostate(2)	breast(3)|central_nervous_system(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(32)|lung(25)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	90						c.(2008-2010)ctC>ctA		protein tyrosine phosphatase, receptor type, M							109	106	107					18																	8113637		2203	4300	6503	SO:0001819	synonymous_variant	5797				homophilic cell adhesion|negative regulation of angiogenesis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|response to drug|retina layer formation|retinal ganglion cell axon guidance	cell-cell adherens junction|integral to plasma membrane|lamellipodium|perinuclear region of cytoplasm	cadherin binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr18:8113637C>A	X58288	CCDS11840.1, CCDS58613.1	18p11.2	2013-02-11			ENSG00000173482	ENSG00000173482		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	9675	protein-coding gene	gene with protein product		176888		PTPRL1		1655529, 8404049	Standard	NM_002845		Approved	RPTPU, hR-PTPu	uc010dkv.3	P28827	OTTHUMG00000131575	ENST00000332175.8:c.2010C>A	18.37:g.8113637C>A						PTPRM_ENST00000400060.4_Silent_p.L670L|PTPRM_ENST00000400053.4_Silent_p.L608L|PTPRM_ENST00000444013.1_Silent_p.L457L|PTPRM_ENST00000580170.1_Silent_p.L670L	p.L670L	NM_002845.3	NP_002836.3	P28827	PTPRM_HUMAN			12	3047	+		Colorectal(10;0.234)	670			Fibronectin type-III 4.		A7MBN1|D3DUH8|J3QL11	Silent	SNP	ENST00000332175.8	37	c.2010C>A	CCDS11840.1																																																																																				0.423	PTPRM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254456.1			93	114	1	0	1.42479e-40	1	1.56178e-40	93	114					A	8113637	C	A	8113637	2	1	40	1	0	0	0	0	0	0	0	1	12806	842	30	5		5	PTPRM	18	8113637	Silent	SNP	C	TCGA-CH-5790-01A-11D-1576-08		8113637	69963611	31	2182											
ADAMTSL5	339366	broad.mit.edu	37	chr19	1507384	1507384	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgcccattaagcacgtagcGcccatcgccccccatcagtg	8	7	9	17	3	1	0	1	0	0	0	2	0	1	0	5	0	3	2	5	0	2	2			TCGA-CH-5790-01A-11D-1576-08	TCGA-CH-5790-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1730f32-f97d-49e7-beb7-593c8ca8a907	c66f09bd-db15-4633-aeba-4f579345c6d0	g.chr19:1507384G>A	ENST00000413997.2	-	9	738	c.739C>T	c.(739-741)Cgc>Tgc	p.R247C	ADAMTSL5_ENST00000590562.1_5'UTR|ADAMTSL5_ENST00000395467.2_Missense_Mutation_p.R6C|CTB-25B13.9_ENST00000590252.1_RNA|ADAMTSL5_ENST00000330475.4_Missense_Mutation_p.R237C			Q6ZMM2	ATL5_HUMAN	ADAMTS-like 5	247						extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.R237C(1)		cervix(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	10		Acute lymphoblastic leukemia(61;5.61e-13)|all_hematologic(61;2.65e-08)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AGCACGTAGCGCCCATCGCCC	0.657																																						ENST00000330475.4																			1	Substitution - Missense(1)	p.R237C(1)	prostate(1)	cervix(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	10						c.(709-711)Cgc>Tgc		ADAMTS-like 5							60	59	59					19																	1507384		2203	4300	6503	SO:0001583	missense	339366					proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr19:1507384G>A	BC040620	CCDS12071.1	19p13.3	2008-02-05	2006-02-07	2006-02-07		ENSG00000185761			27912	protein-coding gene	gene with protein product			"thrombospondin, type I, domain containing 6"	THSD6			Standard	NM_213604		Approved		uc002ltd.2	Q6ZMM2		ENST00000413997.2:c.739C>T	19.37:g.1507384G>A	ENSP00000399364:p.Arg247Cys					ADAMTSL5_ENST00000590562.1_5'UTR|ADAMTSL5_ENST00000413997.2_Missense_Mutation_p.R247C|ADAMTSL5_ENST00000395467.2_Missense_Mutation_p.R6C	p.R237C	NM_213604.2	NP_998769.2	Q6ZMM2	ATL5_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	9	1152	-		Acute lymphoblastic leukemia(61;5.61e-13)|all_hematologic(61;2.65e-08)	237					B4DXK7|Q8IW95	Missense_Mutation	SNP	ENST00000413997.2	37	c.709C>T		.	.	.	.	.	.	.	.	.	.	G	15.17	2.753904	0.49362	.	.	ENSG00000185761	ENST00000413997;ENST00000330475;ENST00000395467	T;T;T	0.53640	0.61;0.61;0.61	4.67	3.58	0.41010	ADAM-TS Spacer 1 (1);	0.384627	0.28635	N	0.014651	T	0.60637	0.2284	M	0.81497	2.545	0.31443	N	0.67175	D;D	0.76494	0.999;0.999	P;P	0.57679	0.825;0.761	T	0.67189	-0.5733	10	0.62326	D	0.03	.	7.6231	0.28197	0.0:0.1824:0.6295:0.1881	.	247;237	B4DXK7;Q6ZMM2	.;ATL5_HUMAN	C	247;237;6	ENSP00000399364:R247C;ENSP00000327608:R237C;ENSP00000378850:R6C	ENSP00000327608:R237C	R	-	1	0	ADAMTSL5	1458384	0.204000	0.23447	0.997000	0.53966	0.050000	0.14768	2.454000	0.44979	0.885000	0.36088	0.561000	0.74099	CGC		0.657	ADAMTSL5-202	KNOWN	basic	protein_coding	protein_coding		XM_294919		11	82	0	0	0	1	0	11	82					A	1507384	G	A	1507384	3	1	40	1	0	0	0	0	1	0	0	0	278	1087	38	1	722	1	ADAMTSL5	19	1507384	Missense_Mutation	SNP	G	TCGA-CH-5790-01A-11D-1576-08		1507384	57621599	32	2183											
GPATCH1	55094	broad.mit.edu	37	chr19	33584366	33584366	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaaaggctaggcagttggcCgctgctactgcccctattcc	8	9	11	13	1	0	0	0	0	0	0	1	1	1	0	4	3	3	5	4	3	5	5	rs139698891		TCGA-CH-5790-01A-11D-1576-08	TCGA-CH-5790-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1730f32-f97d-49e7-beb7-593c8ca8a907	c66f09bd-db15-4633-aeba-4f579345c6d0	g.chr19:33584366C>T	ENST00000170564.2	+	4	710	c.396C>T	c.(394-396)gcC>gcT	p.A132A		NM_018025.2	NP_060495.2	Q9BRR8	GPTC1_HUMAN	G patch domain containing 1	132					mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)	nucleic acid binding (GO:0003676)	p.A132A(1)		breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|prostate(4)|skin(4)	40	Esophageal squamous(110;0.137)					GGCAGTTGGCCGCTGCTACTG	0.488																																					Pancreas(67;88 1713 4567 18227)	ENST00000170564.2																			1	Substitution - coding silent(1)	p.A132A(1)	prostate(1)	breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|prostate(4)|skin(4)	40						c.(394-396)gcC>gcT		G patch domain containing 1		C		2,4404	4.2+/-10.8	0,2,2201	132	121	125		396	-3	0.8	19	dbSNP_134	125	0,8600		0,0,4300	no	coding-synonymous	GPATCH1	NM_018025.2		0,2,6501	TT,TC,CC		0.0,0.0454,0.0154		132/932	33584366	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	55094					catalytic step 2 spliceosome	nucleic acid binding	g.chr19:33584366C>T	AF434677	CCDS12428.1	19q13.12	2013-01-28		2006-12-13		ENSG00000076650		"G patch domain containing"	24658	protein-coding gene	gene with protein product	"evolutionarily conserved G patch domain containing"			GPATC1		12477932	Standard	NM_018025		Approved	ECGP, FLJ10206, FLJ38686	uc002nug.1	Q9BRR8		ENST00000170564.2:c.396C>T	19.37:g.33584366C>T							p.A132A	NM_018025.2	NP_060495.2	Q9BRR8	GPTC1_HUMAN			4	710	+	Esophageal squamous(110;0.137)		132					Q8IZV6|Q8N3B7|Q9NW94	Silent	SNP	ENST00000170564.2	37	c.396C>T	CCDS12428.1																																																																																				0.488	GPATCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450834.1	NM_018025		56	99	0	0	0	1	0	56	99					T	33584366	C	T	33584366	2	4	40	1	0	0	0	0	0	0	0	1	6590	639	23	2		2	GPATCH1	19	33584366	Silent	SNP	C	TCGA-CH-5790-01A-11D-1576-08	32076982	33584366	25544617	33	2184											
CEACAM6	4680	broad.mit.edu	37	chr19	42259586	42259586	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ctccctgcagattgcatgtcCcctggaaggaggtcctgctc	6	10	11	14	0	0	1	0	0	0	1	4	3	3	3	4	3	3	3	4	3	1	1			TCGA-CH-5790-01A-11D-1576-08	TCGA-CH-5790-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1730f32-f97d-49e7-beb7-593c8ca8a907	c66f09bd-db15-4633-aeba-4f579345c6d0	g.chr19:42259586C>A	ENST00000199764.6	+	1	258	c.40C>A	c.(40-42)Ccc>Acc	p.P14T	CEA_ENST00000598976.1_Intron|AC011513.4_ENST00000601409.1_RNA	NM_002483.4	NP_002474.3	P40199	CEAM6_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 6 (non-specific cross reacting antigen)	14					cell-cell signaling (GO:0007267)|signal transduction (GO:0007165)	anchored component of membrane (GO:0031225)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)		p.P14T(1)		breast(1)|kidney(4)|large_intestine(1)|lung(4)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	18				OV - Ovarian serous cystadenocarcinoma(3;0.00575)|all cancers(3;0.0352)|Epithelial(262;0.0797)		ATTGCATGTCCCCTGGAAGGA	0.607																																						ENST00000199764.6																			1	Substitution - Missense(1)	p.P14T(1)	prostate(1)	breast(1)|kidney(4)|large_intestine(1)|lung(4)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	18						c.(40-42)Ccc>Acc		carcinoembryonic antigen-related cell adhesion molecule 6 (non-specific cross reacting antigen)							83	77	79					19																	42259586		2203	4300	6503	SO:0001583	missense	4680				cell-cell signaling|signal transduction	anchored to membrane|integral to plasma membrane		g.chr19:42259586C>A	M29541	CCDS12585.1	19q13.1-q13.2	2013-01-29			ENSG00000086548	ENSG00000086548		"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	1818	protein-coding gene	gene with protein product		163980		NCA			Standard	NM_002483		Approved	CD66c	uc002orm.2	P40199	OTTHUMG00000151064	ENST00000199764.6:c.40C>A	19.37:g.42259586C>A	ENSP00000199764:p.Pro14Thr					CEA_ENST00000598976.1_Intron	p.P14T	NM_002483.4	NP_002474.3	P40199	CEAM6_HUMAN		OV - Ovarian serous cystadenocarcinoma(3;0.00575)|all cancers(3;0.0352)|Epithelial(262;0.0797)	1	258	+			14					Q13774|Q14920|Q53XP7	Missense_Mutation	SNP	ENST00000199764.6	37	c.40C>A	CCDS12585.1	.	.	.	.	.	.	.	.	.	.	C	3.808	-0.040367	0.07497	.	.	ENSG00000086548	ENST00000199764	T	0.19806	2.12	1.49	0.398	0.16319	.	.	.	.	.	T	0.18882	0.0453	M	0.68952	2.095	0.09310	N	1	B	0.27594	0.182	B	0.32022	0.139	T	0.36720	-0.9736	9	0.13853	T	0.58	.	3.7503	0.08563	0.0:0.7495:0.0:0.2505	.	14	P40199	CEAM6_HUMAN	T	14	ENSP00000199764:P14T	ENSP00000199764:P14T	P	+	1	0	CEACAM6	46951426	0.088000	0.21588	0.004000	0.12327	0.040000	0.13550	0.002000	0.13061	0.187000	0.20147	0.305000	0.20034	CCC		0.607	CEACAM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321147.1			5	97	1	0	0.184627	1	0.184627	5	97					A	42259586	C	A	42259586	3	1	40	1	0	0	0	0	1	0	0	0	3196	623	22	5	42	5	CEACAM6	19	42259586	Missense_Mutation	SNP	C	TCGA-CH-5790-01A-11D-1576-08	8675220	42259586	16869397	34	2185											
MAPRE1	22919	broad.mit.edu	37	chr20	31427559	31427559	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agctccccagaggcccatctCaacacagagaaccgctgcgg	11	4	10	16	2	1	2	1	0	1	2	3	3	2	2	4	2	4	2	4	2	2	0			TCGA-CH-5790-01A-11D-1576-08	TCGA-CH-5790-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1730f32-f97d-49e7-beb7-593c8ca8a907	c66f09bd-db15-4633-aeba-4f579345c6d0	g.chr20:31427559C>G	ENST00000375571.5	+	5	633	c.494C>G	c.(493-495)tCa>tGa	p.S165*		NM_012325.2	NP_036457.1	Q15691	MARE1_HUMAN	microtubule-associated protein, RP/EB family, member 1	165	Interaction with MTUS2/TIP150.				cell proliferation (GO:0008283)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of microtubule polymerization (GO:0031115)|positive regulation of microtubule plus-end binding (GO:1903033)|protein localization to microtubule (GO:0035372)	cell projection membrane (GO:0031253)|centrosome (GO:0005813)|cortical microtubule cytoskeleton (GO:0030981)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|microtubule plus-end (GO:0035371)	microtubule plus-end binding (GO:0051010)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)	p.S165*(1)		endometrium(2)|large_intestine(1)|lung(3)|prostate(2)	8						AGGCCCATCTCAACACAGAGA	0.527																																						ENST00000375571.5																			1	Substitution - Nonsense(1)	p.S165*(1)	prostate(1)	endometrium(2)|large_intestine(1)|lung(3)|prostate(2)	8						c.(493-495)tCa>tGa		microtubule-associated protein, RP/EB family, member 1							179	202	194					20																	31427559		2203	4300	6503	SO:0001587	stop_gained	22919				cell division|cell proliferation|G2/M transition of mitotic cell cycle|mitotic prometaphase|negative regulation of microtubule polymerization|protein localization to microtubule	centrosome|cortical microtubule cytoskeleton|cytosol	microtubule plus-end binding|protein C-terminus binding	g.chr20:31427559C>G	U24166	CCDS13208.1	20q11.1-q11.3	2013-01-17			ENSG00000101367	ENSG00000101367			6890	protein-coding gene	gene with protein product	"adenomatous polyposis coli-binding protein EB1"	603108				7606712, 9724749, 11470413	Standard	NM_012325		Approved	EB1	uc002wyh.3	Q15691	OTTHUMG00000032228	ENST00000375571.5:c.494C>G	20.37:g.31427559C>G	ENSP00000364721:p.Ser165*						p.S165*	NM_012325.2	NP_036457.1	Q15691	MARE1_HUMAN			5	633	+			165			Interaction with MTUS2/TIP150.		B2R6I7|E1P5M8|Q3KQS8	Nonsense_Mutation	SNP	ENST00000375571.5	37	c.494C>G	CCDS13208.1	.	.	.	.	.	.	.	.	.	.	C	35	5.413519	0.96072	.	.	ENSG00000101367	ENST00000375571	.	.	.	5.11	4.15	0.48705	.	0.987994	0.08251	N	0.974523	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.32370	T	0.25	1.0E-4	8.5739	0.33587	0.0:0.7537:0.1587:0.0876	.	.	.	.	X	165	.	ENSP00000364721:S165X	S	+	2	0	MAPRE1	30891220	1.000000	0.71417	0.997000	0.53966	0.861000	0.49209	2.261000	0.43276	1.504000	0.48704	0.655000	0.94253	TCA		0.527	MAPRE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078647.2	NM_012325		12	457	0	0	0	1	0	12	457					G	31427559	C	G	31427559	4	3	40	1	0	0	0	0	0	1	0	0	9294	838	29	5	508	5	MAPRE1	20	31427559	Nonsense_Mutation	SNP	C	TCGA-CH-5790-01A-11D-1576-08		31427559	31597961	35	2186											
HDAC8	55869	broad.mit.edu	37	chrX	71787745	71787745	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggtcattttcttacttctttGcatgatgccaccctccagac	7	15	6	13	0	3	2	1	1	2	1	4	2	4	2	3	1	3	1	3	1	1	5			TCGA-CH-5790-01A-11D-1576-08	TCGA-CH-5790-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1730f32-f97d-49e7-beb7-593c8ca8a907	c66f09bd-db15-4633-aeba-4f579345c6d0	g.chrX:71787745G>C	ENST00000373573.3	-	4	772	c.431C>G	c.(430-432)gCa>gGa	p.A144G	HDAC8_ENST00000373560.2_Missense_Mutation_p.A144G|HDAC8_ENST00000373583.1_Intron|HDAC8_ENST00000429103.2_Intron|HDAC8_ENST00000373554.1_Missense_Mutation_p.A144G|HDAC8_ENST00000478743.1_Intron|HDAC8_ENST00000373571.1_Missense_Mutation_p.A144G|HDAC8_ENST00000373589.4_Intron|HDAC8_ENST00000373559.4_Intron|HDAC8_ENST00000373561.4_Missense_Mutation_p.A144G|HDAC8_ENST00000373556.3_Missense_Mutation_p.A144G|HDAC8_ENST00000439122.2_Missense_Mutation_p.A144G	NM_018486.2	NP_060956.1	Q9BY41	HDAC8_HUMAN	histone deacetylase 8	144	Histone deacetylase.				chromatin assembly or disassembly (GO:0006333)|chromatin modification (GO:0016568)|mitotic cell cycle (GO:0000278)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of cohesin localization to chromatin (GO:0071922)|sister chromatid cohesion (GO:0007062)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|histone deacetylase complex (GO:0000118)|nuclear chromosome (GO:0000228)|nucleus (GO:0005634)	histone deacetylase activity (GO:0004407)|metal ion binding (GO:0046872)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|transcription factor binding (GO:0008134)	p.A144G(1)		breast(3)|cervix(1)|endometrium(1)|lung(4)|prostate(1)	10	Renal(35;0.156)				Vorinostat(DB02546)	TTACTTCTTTGCATGATGCCA	0.418																																						ENST00000439122.2																			1	Substitution - Missense(1)	p.A144G(1)	prostate(1)	breast(3)|cervix(1)|endometrium(1)|lung(4)|prostate(1)	10						c.(430-432)gCa>gGa		histone deacetylase 8	Vorinostat(DB02546)						155	134	141					X																	71787745		2203	4300	6503	SO:0001583	missense	55869				chromatin assembly or disassembly|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|nuclear chromosome	histone deacetylase activity (H3-K16 specific)|metal ion binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|transcription factor binding	g.chrX:71787745G>C	AF230097	CCDS14420.1, CCDS55448.1, CCDS55449.1, CCDS55450.1, CCDS55451.1, CCDS55452.1	Xq13	2014-01-29	2002-09-02	2002-09-06	ENSG00000147099	ENSG00000147099			13315	protein-coding gene	gene with protein product		300269	"histone deacetylase-like 1", "Wilson-Turner X-linked mental retardation syndrome"	HDACL1, WTS, MRXS6		10756090, 10922473, 22889856	Standard	NM_001166448		Approved	RPD3	uc004eau.3	Q9BY41	OTTHUMG00000021814	ENST00000373573.3:c.431C>G	X.37:g.71787745G>C	ENSP00000362674:p.Ala144Gly					HDAC8_ENST00000373559.4_Intron|HDAC8_ENST00000373561.4_Missense_Mutation_p.A144G|HDAC8_ENST00000429103.2_Intron|HDAC8_ENST00000478743.1_Intron|HDAC8_ENST00000373554.1_Missense_Mutation_p.A144G|HDAC8_ENST00000373556.3_Missense_Mutation_p.A144G|HDAC8_ENST00000373583.1_Intron|HDAC8_ENST00000373560.2_Missense_Mutation_p.A144G|HDAC8_ENST00000373573.3_Missense_Mutation_p.A144G|HDAC8_ENST00000373589.4_Intron|HDAC8_ENST00000373571.1_Missense_Mutation_p.A144G	p.A144G	NM_001166419.1	NP_001159891.1	Q9BY41	HDAC8_HUMAN			4	717	-	Renal(35;0.156)		144			Histone deacetylase.		A6ND12|A6ND61|A6NET3|A6NJR3|A8MQ62|B4DKN0|B4DV22|Q86VC8|Q9NP76|Q9NYH4	Missense_Mutation	SNP	ENST00000373573.3	37	c.431C>G	CCDS14420.1	.	.	.	.	.	.	.	.	.	.	G	19.56	3.850307	0.71719	.	.	ENSG00000147099	ENST00000373573;ENST00000415409;ENST00000373571;ENST00000439122;ENST00000373560;ENST00000373561;ENST00000421523;ENST00000373556;ENST00000373554	D;D;D;D;D;D;D;D;D	0.85773	-2.03;-2.03;-2.03;-2.03;-2.03;-2.03;-2.03;-2.03;-2.03	4.98	4.98	0.66077	Histone deacetylase domain (2);	0.000000	0.85682	D	0.000000	D	0.86012	0.5831	M	0.68728	2.09	0.80722	D	1	P;P	0.42248	0.601;0.774	B;B	0.43889	0.298;0.435	D	0.88156	0.2854	10	0.87932	D	0	-12.7565	15.1939	0.73071	0.0:0.0:1.0:0.0	.	144;144	B4DV22;Q9BY41	.;HDAC8_HUMAN	G	144;144;144;144;144;144;105;144;144	ENSP00000362674:A144G;ENSP00000396424:A144G;ENSP00000362672:A144G;ENSP00000414486:A144G;ENSP00000362661:A144G;ENSP00000362662:A144G;ENSP00000398997:A105G;ENSP00000362657:A144G;ENSP00000362655:A144G	ENSP00000362655:A144G	A	-	2	0	HDAC8	71704470	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.817000	0.86213	2.395000	0.81488	0.544000	0.68410	GCA		0.418	HDAC8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057193.2	NM_018486		11	122	0	0	0	1	0	11	122					C	71787745	G	C	71787745	3	2	40	1	0	0	0	0	1	0	0	0	7013	1319	46	5	820	5	HDAC8	23	71787745	Missense_Mutation	SNP	G	TCGA-CH-5790-01A-11D-1576-08		71787745	83482815	36	2187											
LCE5A	254910	broad.mit.edu	37	chr1	152484310	152484310	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cagcagtctgggggctccagCtgctgccacagctctggggg	5	7	16	13	0	2	0	0	0	2	0	3	0	3	0	2	4	5	5	2	4	0	0			TCGA-CH-5791-01A-11D-1576-08	TCGA-CH-5791-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f104f5f-f816-42cf-bdf5-65cbf9d7a5d4	8b462258-f66d-4893-a6f8-245278d1ce9d	g.chr1:152484310C>G	ENST00000334269.2	+	2	476	c.300C>G	c.(298-300)agC>agG	p.S100R	CRCT1_ENST00000368790.3_5'Flank	NM_178438.4	NP_848525.1	Q5TCM9	LCE5A_HUMAN	late cornified envelope 5A	100	Cys-rich.				keratinization (GO:0031424)			p.S100R(1)		lung(3)|ovary(1)|prostate(3)	7	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			GGGGCTCCAGCTGCTGCCACA	0.682																																						ENST00000334269.2																			1	Substitution - Missense(1)	p.S100R(1)	prostate(1)	lung(3)|ovary(1)|prostate(3)	7						c.(298-300)agC>agG		late cornified envelope 5A							14	18	16					1																	152484310		2123	4196	6319	SO:0001583	missense	254910				keratinization			g.chr1:152484310C>G	BI670518	CCDS1011.1	1q21.3	2008-02-05	2004-10-11	2004-10-15	ENSG00000186207	ENSG00000186207		"Late cornified envelopes"	16614	protein-coding gene	gene with protein product		612619	"small proline rich-like (epidermal differentiation complex) 5A"	SPRL5A		11698679	Standard	NM_178438		Approved	LEP18	uc001ezy.3	Q5TCM9	OTTHUMG00000014401	ENST00000334269.2:c.300C>G	1.37:g.152484310C>G	ENSP00000333952:p.Ser100Arg						p.S100R	NM_178438.4	NP_848525.1	Q5TCM9	LCE5A_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	476	+	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		100			Cys-rich.			Missense_Mutation	SNP	ENST00000334269.2	37	c.300C>G	CCDS1011.1	.	.	.	.	.	.	.	.	.	.	C	2.560	-0.302180	0.05495	.	.	ENSG00000186207	ENST00000334269	T	0.04119	3.7	3.91	1.96	0.26148	.	.	.	.	.	T	0.02380	0.0073	M	0.61703	1.905	0.20196	N	0.999926	P	0.40794	0.729	B	0.42062	0.374	T	0.42327	-0.9458	9	0.51188	T	0.08	-6.3021	4.4279	0.11513	0.2226:0.6579:0.0:0.1195	.	100	Q5TCM9	LCE5A_HUMAN	R	100	ENSP00000333952:S100R	ENSP00000333952:S100R	S	+	3	2	LCE5A	150750934	0.115000	0.22152	0.923000	0.36655	0.082000	0.17680	0.353000	0.20130	0.401000	0.25424	0.609000	0.83330	AGC		0.682	LCE5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040059.1	NM_178438		4	9	0	0	0	0.307466	0	4	9					G	152484310	C	G	152484310	3	3	41	1	0	0	0	0	1	0	0	0	8675	796	28	5	302	5	LCE5A	1	152484310	Missense_Mutation	SNP	C	TCGA-CH-5791-01A-11D-1576-08		152484310	96766311	1	2188											
CFHR5	81494	broad.mit.edu	37	chr1	196971637	196971637	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agggaacaattctgcccaccGccacctcagatacctaatgc	12	7	7	15	1	2	1	1	0	1	1	2	2	2	2	5	1	4	0	5	1	4	3	rs200148491		TCGA-CH-5791-01A-11D-1576-08	TCGA-CH-5791-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f104f5f-f816-42cf-bdf5-65cbf9d7a5d4	8b462258-f66d-4893-a6f8-245278d1ce9d	g.chr1:196971637G>A	ENST00000256785.4	+	8	1282	c.1173G>A	c.(1171-1173)ccG>ccA	p.P391P	CFHR5_ENST00000367414.5_Silent_p.P415P			Q9BXR6	FHR5_HUMAN	complement factor H-related 5	391	Sushi 7. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation, alternative pathway (GO:0006957)	extracellular region (GO:0005576)		p.P391P(1)		NS(2)|breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(23)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	49						TCTGCCCACCGCCACCTCAGA	0.348													G|||	1	0.000199681	0	0	5008	,	,		15505	0		0.001	False		,,,				2504	0					ENST00000367414.5																			1	Substitution - coding silent(1)	p.P391P(1)	prostate(1)	NS(2)|breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(23)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	49						c.(1243-1245)ccG>ccA		complement factor H-related 5							60	62	61					1																	196971637		2203	4300	6503	SO:0001819	synonymous_variant	81494				complement activation, alternative pathway	extracellular region		g.chr1:196971637G>A	AF295327	CCDS1387.1	1q31.3	2014-09-17		2006-02-28	ENSG00000134389	ENSG00000134389		"Complement system"	24668	protein-coding gene	gene with protein product	"factor H related protein 5"	608593		CFHL5		11058592, 12041828	Standard	NM_030787		Approved	FHR5, FHR-5	uc001gts.4	Q9BXR6	OTTHUMG00000036517	ENST00000256785.4:c.1173G>A	1.37:g.196971637G>A						CFHR5_ENST00000256785.4_Silent_p.P391P	p.P415P	NM_030787.3	NP_110414.1	Q9BXR6	FHR5_HUMAN			8	1301	+			391			Sushi 7.		Q2NKK2	Silent	SNP	ENST00000256785.4	37	c.1245G>A	CCDS1387.1																																																																																				0.348	CFHR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088814.2	NM_030787		7	79	0	0	0	0.307466	0	7	79					A	196971637	G	A	196971637	2	1	41	1	0	0	0	0	0	0	0	1	3288	1074	38	1		1	CFHR5	1	196971637	Silent	SNP	G	TCGA-CH-5791-01A-11D-1576-08	44487327	196971637	52278984	2	2189											
GALNT2	2590	broad.mit.edu	37	chr1	230338965	230338965	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggcaggacccttacgcccgCaacaagttcaaccaggtgga	11	5	12	13	2	1	0	1	0	0	0	1	2	1	2	3	4	3	3	3	4	4	2			TCGA-CH-5791-01A-11D-1576-08	TCGA-CH-5791-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f104f5f-f816-42cf-bdf5-65cbf9d7a5d4	8b462258-f66d-4893-a6f8-245278d1ce9d	g.chr1:230338965C>T	ENST00000366672.4	+	3	375	c.303C>T	c.(301-303)cgC>cgT	p.R101R	GALNT2_ENST00000541865.1_Silent_p.R11R|GALNT2_ENST00000543760.1_Silent_p.R63R	NM_004481.3	NP_004472.1	Q10471	GALT2_HUMAN	polypeptide N-acetylgalactosaminyltransferase 2	101					cellular protein metabolic process (GO:0044267)|immunoglobulin biosynthetic process (GO:0002378)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein O-linked glycosylation (GO:0006493)|protein O-linked glycosylation via serine (GO:0018242)|protein O-linked glycosylation via threonine (GO:0018243)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of Golgi membrane (GO:0030173)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	carbohydrate binding (GO:0030246)|manganese ion binding (GO:0030145)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)	p.R101R(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(5)|skin(2)	32	Breast(184;0.193)|Ovarian(103;0.249)	all_cancers(173;0.156)|Prostate(94;0.179)				CTTACGCCCGCAACAAGTTCA	0.552																																						ENST00000366672.4																			1	Substitution - coding silent(1)	p.R101R(1)	prostate(1)	breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(5)|skin(2)	32						c.(301-303)cgC>cgT		UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 2 (GalNAc-T2)							123	123	123					1																	230338965		2203	4300	6503	SO:0001819	synonymous_variant	2590				immunoglobulin biosynthetic process|protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine	extracellular region|Golgi cisterna membrane|integral to Golgi membrane|perinuclear region of cytoplasm	manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr1:230338965C>T	BC041120	CCDS1582.1	1q41-q42	2014-03-13	2014-03-13		ENSG00000143641	ENSG00000143641	2.4.1.41	"Glycosyltransferase family 2 domain containing"	4124	protein-coding gene	gene with protein product	"polypeptide GalNAc transferase 2"	602274	"UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 2 (GalNAc-T2)"			9592121, 7592619	Standard	NM_004481		Approved	GalNAc-T2	uc010pwa.1	Q10471	OTTHUMG00000037771	ENST00000366672.4:c.303C>T	1.37:g.230338965C>T						GALNT2_ENST00000543760.1_Silent_p.R63R|GALNT2_ENST00000541865.1_Silent_p.R11R	p.R101R	NM_004481.3	NP_004472.1	Q10471	GALT2_HUMAN			3	375	+	Breast(184;0.193)|Ovarian(103;0.249)	all_cancers(173;0.156)|Prostate(94;0.179)	101					A8K1Y3|B7Z8V8|C5HU00|Q9NPY4	Silent	SNP	ENST00000366672.4	37	c.303C>T	CCDS1582.1																																																																																				0.552	GALNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092158.1	NM_004481		6	224	0	0	0	0.248553	0	6	224					T	230338965	C	T	230338965	2	4	41	1	0	0	0	0	0	0	0	1	6213	697	25	3		3	GALNT2	1	230338965	Silent	SNP	C	TCGA-CH-5791-01A-11D-1576-08	33367328	230338965	18911656	3	2190											
CLIP4	79745	broad.mit.edu	37	chr2	29354154	29354154	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctttgatcctaatgatgcatCatgccaggaaattctttttg	10	16	7	8	0	2	2	1	2	1	0	3	3	3	3	2	1	2	1	2	1	2	5			TCGA-CH-5791-01A-11D-1576-08	TCGA-CH-5791-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f104f5f-f816-42cf-bdf5-65cbf9d7a5d4	8b462258-f66d-4893-a6f8-245278d1ce9d	g.chr2:29354154C>T	ENST00000320081.5	+	3	419	c.164C>T	c.(163-165)tCa>tTa	p.S55L	CLIP4_ENST00000401617.2_5'UTR|CLIP4_ENST00000404424.1_Missense_Mutation_p.S55L|CLIP4_ENST00000401605.1_Missense_Mutation_p.S55L	NM_024692.4	NP_078968.3	Q8N3C7	CLIP4_HUMAN	CAP-GLY domain containing linker protein family, member 4	55								p.S55L(1)		endometrium(4)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|prostate(1)|skin(1)	26	Acute lymphoblastic leukemia(172;0.155)					AATGATGCATCATGCCAGGAA	0.274																																						ENST00000320081.5																			1	Substitution - Missense(1)	p.S55L(1)	prostate(1)	endometrium(4)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|prostate(1)|skin(1)	26						c.(163-165)tCa>tTa		CAP-GLY domain containing linker protein family, member 4							73	72	72					2																	29354154		2203	4298	6501	SO:0001583	missense	79745							g.chr2:29354154C>T	AK024722	CCDS1770.1, CCDS74502.1	2p23	2013-01-10	2007-01-04	2007-01-04	ENSG00000115295	ENSG00000115295		"Ankyrin repeat domain containing"	26108	protein-coding gene	gene with protein product			"restin-like 2"	RSNL2			Standard	XM_005264562		Approved	FLJ21069	uc002rmv.3	Q8N3C7	OTTHUMG00000097837	ENST00000320081.5:c.164C>T	2.37:g.29354154C>T	ENSP00000327009:p.Ser55Leu					CLIP4_ENST00000404424.1_Missense_Mutation_p.S55L|CLIP4_ENST00000401605.1_Missense_Mutation_p.S55L|CLIP4_ENST00000401617.2_5'UTR	p.S55L	NM_024692.4	NP_078968.3	Q8N3C7	CLIP4_HUMAN			3	419	+	Acute lymphoblastic leukemia(172;0.155)		55					A0AV10|B2RMQ3|B7Z7N8|Q7Z4U3|Q96BR7|Q96MA5|Q9H7C0	Missense_Mutation	SNP	ENST00000320081.5	37	c.164C>T	CCDS1770.1	.	.	.	.	.	.	.	.	.	.	C	16.09	3.025303	0.54683	.	.	ENSG00000115295	ENST00000401605;ENST00000404424;ENST00000402240;ENST00000320081;ENST00000379543;ENST00000449202;ENST00000530644	T;T;T;T	0.75154	-0.91;-0.59;-0.59;0.88	5.82	5.82	0.92795	.	0.249150	0.39407	N	0.001377	T	0.69753	0.3146	L	0.45581	1.43	0.39183	D	0.962815	P;B	0.39282	0.666;0.165	B;B	0.33339	0.162;0.045	T	0.74740	-0.3563	10	0.66056	D	0.02	.	20.1178	0.97943	0.0:1.0:0.0:0.0	.	55;55	A8K6D0;Q8N3C7	.;CLIP4_HUMAN	L	55;55;55;55;56;55;37	ENSP00000384242:S55L;ENSP00000385594:S55L;ENSP00000327009:S55L;ENSP00000393354:S55L	ENSP00000327009:S55L	S	+	2	0	CLIP4	29207658	0.998000	0.40836	1.000000	0.80357	0.988000	0.76386	3.723000	0.54955	2.759000	0.94783	0.557000	0.71058	TCA		0.274	CLIP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215123.2	NM_024692		42	99	0	0	0	0.827153	0	42	99					T	29354154	C	T	29354154	3	4	41	1	0	0	0	0	1	0	0	0	3535	838	29	3	170	3	CLIP4	2	29354154	Missense_Mutation	SNP	C	TCGA-CH-5791-01A-11D-1576-08		29354154	213845219	4	2191											
CEBPZ	10153	broad.mit.edu	37	chr2	37441066	37441066	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tactttcttcatctgcatccCgtttttgtttctctttaaca	6	21	3	11	1	4	0	1	0	3	0	6	0	5	0	1	0	3	3	1	0	2	8			TCGA-CH-5791-01A-11D-1576-08	TCGA-CH-5791-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f104f5f-f816-42cf-bdf5-65cbf9d7a5d4	8b462258-f66d-4893-a6f8-245278d1ce9d	g.chr2:37441066C>T	ENST00000234170.5	-	10	2631	c.2486G>A	c.(2485-2487)cGg>cAg	p.R829Q	AC007390.5_ENST00000438935.2_Intron|RP11-423P10.2_ENST00000606229.1_RNA	NM_005760.2	NP_005751.2	Q03701	CEBPZ_HUMAN	CCAAT/enhancer binding protein (C/EBP), zeta	829					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)	p.R829Q(1)		breast(3)|endometrium(2)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28		all_hematologic(82;0.21)				ATCTGCATCCCGTTTTTGTTT	0.269																																						ENST00000234170.5																			1	Substitution - Missense(1)	p.R829Q(1)	prostate(1)	breast(3)|endometrium(2)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28						c.(2485-2487)cGg>cAg		CCAAT/enhancer binding protein (C/EBP), zeta							208	200	203					2																	37441066		2202	4300	6502	SO:0001583	missense	10153				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding	g.chr2:37441066C>T	M37197	CCDS1787.1	2p22.3	2008-09-03	2008-09-03		ENSG00000115816	ENSG00000115816			24218	protein-coding gene	gene with protein product		612828				2247079, 12534345	Standard	NM_005760		Approved	CBF2, CTF2	uc002rpz.3	Q03701	OTTHUMG00000100960	ENST00000234170.5:c.2486G>A	2.37:g.37441066C>T	ENSP00000234170:p.Arg829Gln					AC007390.5_ENST00000438935.2_Intron	p.R829Q	NM_005760.2	NP_005751.2	Q03701	CEBPZ_HUMAN			10	2631	-		all_hematologic(82;0.21)	829					Q8NE75	Missense_Mutation	SNP	ENST00000234170.5	37	c.2486G>A	CCDS1787.1	.	.	.	.	.	.	.	.	.	.	C	12.23	1.874279	0.33069	.	.	ENSG00000115816	ENST00000234170;ENST00000545744	T	0.15487	2.42	5.63	0.453	0.16639	Armadillo-type fold (1);	0.369897	0.26546	N	0.023765	T	0.10723	0.0262	L	0.43757	1.38	0.23876	N	0.996593	B	0.32862	0.387	B	0.18561	0.022	T	0.15665	-1.0429	10	0.87932	D	0	.	6.0564	0.19815	0.0:0.5034:0.2279:0.2687	.	829	Q03701	CEBPZ_HUMAN	Q	829	ENSP00000234170:R829Q	ENSP00000234170:R829Q	R	-	2	0	CEBPZ	37294570	0.010000	0.17322	0.005000	0.12908	0.752000	0.42762	0.281000	0.18810	-0.211000	0.10124	-0.302000	0.09304	CGG		0.269	CEBPZ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218569.2	NM_005760		9	42	0	0	0	0.307466	0	9	42					T	37441066	C	T	37441066	3	4	41	1	0	0	0	0	1	0	0	0	3204	652	23	2	706	2	CEBPZ	2	37441066	Missense_Mutation	SNP	C	TCGA-CH-5791-01A-11D-1576-08	8086912	37441066	205758307	5	2192											
LRP1B	53353	broad.mit.edu	37	chr2	141460073	141460073	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttctctgagccatccaagcGagcctttccaatacagggca	10	9	8	14	1	1	1	0	1	1	0	4	2	3	1	4	1	4	1	4	1	3	3			TCGA-CH-5791-01A-11D-1576-08	TCGA-CH-5791-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f104f5f-f816-42cf-bdf5-65cbf9d7a5d4	8b462258-f66d-4893-a6f8-245278d1ce9d	g.chr2:141460073G>T	ENST00000389484.3	-	38	7044	c.6073C>A	c.(6073-6075)Cgc>Agc	p.R2025S		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	2025					protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)	p.R2025S(1)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CCATCCAAGCGAGCCTTTCCA	0.408										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	ENST00000389484.3																			1	Substitution - Missense(1)	p.R2025S(1)	prostate(1)	NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606						c.(6073-6075)Cgc>Agc		low density lipoprotein receptor-related protein 1B							102	94	97					2																	141460073		2203	4300	6503	SO:0001583	missense	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141460073G>T	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"Low density lipoprotein receptors"	6693	protein-coding gene	gene with protein product	"LRP-deleted in tumors"	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.6073C>A	2.37:g.141460073G>T	ENSP00000374135:p.Arg2025Ser	TSP Lung(27;0.18)					p.R2025S	NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)	38	7044	-		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)	2025					Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	c.6073C>A	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	G	14.70	2.613253	0.46631	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	D	0.90324	-2.65	5.16	4.23	0.50019	Six-bladed beta-propeller, TolB-like (1);	0.346876	0.25433	U	0.030707	D	0.83496	0.5267	N	0.21324	0.655	0.43069	D	0.9947	P	0.41597	0.756	B	0.42593	0.392	T	0.80271	-0.1452	10	0.20519	T	0.43	.	10.9381	0.47257	0.0725:0.0:0.798:0.1296	.	2025	Q9NZR2	LRP1B_HUMAN	S	2025;1963	ENSP00000374135:R2025S	ENSP00000374135:R2025S	R	-	1	0	LRP1B	141176543	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	6.548000	0.73896	2.554000	0.86153	0.557000	0.71058	CGC		0.408	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		51	86	1	0	1.11015e-26	0.870114	1.37255e-26	51	86					T	141460073	G	T	141460073	3	4	41	1	0	0	0	0	1	0	0	0	8955	1058	37	5	7942	5	LRP1B	2	141460073	Missense_Mutation	SNP	G	TCGA-CH-5791-01A-11D-1576-08	104019007	141460073	101739300	6	2193											
RAPH1	65059	broad.mit.edu	37	chr2	204304794	204304794	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	acacacacccttgttggagaActccaggaaggttgactcca	12	8	9	12	0	0	2	0	1	0	1	2	4	2	3	3	3	1	2	3	3	2	3			TCGA-CH-5791-01A-11D-1576-08	TCGA-CH-5791-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f104f5f-f816-42cf-bdf5-65cbf9d7a5d4	8b462258-f66d-4893-a6f8-245278d1ce9d	g.chr2:204304794A>G	ENST00000319170.5	-	14	3418	c.3119T>C	c.(3118-3120)gTt>gCt	p.V1040A	RAPH1_ENST00000457812.1_Intron|ABI2_ENST00000295851.5_3'UTR|RAPH1_ENST00000374493.3_Missense_Mutation_p.V1092A	NM_213589.1	NP_998754.1	Q70E73	RAPH1_HUMAN	Ras association (RalGDS/AF-6) and pleckstrin homology domains 1	1040					axon extension (GO:0048675)|cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)		p.V1040A(2)		breast(5)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						TTGTTGGAGAACTCCAGGAAG	0.537																																						ENST00000319170.5																			2	Substitution - Missense(2)	p.V1040A(2)	prostate(2)	breast(5)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(3118-3120)gTt>gCt		Ras association (RalGDS/AF-6) and pleckstrin homology domains 1							45	51	49					2																	204304794		2203	4300	6503	SO:0001583	missense	65059				cell-matrix adhesion|signal transduction	cytoplasm|cytoskeleton|filopodium|lamellipodium|nucleus|plasma membrane		g.chr2:204304794A>G	AJ584699	CCDS2359.1, CCDS2360.1	2q33	2013-01-10	2003-11-25	2003-11-26	ENSG00000173166	ENSG00000173166		"Pleckstrin homology (PH) domain containing"	14436	protein-coding gene	gene with protein product	"amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 18"	609035	"amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 9"	ALS2CR9, ALS2CR18			Standard	NM_203365		Approved	KIAA1681	uc002vad.3	Q70E73	OTTHUMG00000132876	ENST00000319170.5:c.3119T>C	2.37:g.204304794A>G	ENSP00000316543:p.Val1040Ala					RAPH1_ENST00000457812.1_Intron|RAPH1_ENST00000374493.3_Missense_Mutation_p.V1092A	p.V1040A	NM_213589.1	NP_998754.1	Q70E73	RAPH1_HUMAN			14	3418	-			1040					Q96Q37|Q9C0I2	Missense_Mutation	SNP	ENST00000319170.5	37	c.3119T>C	CCDS2359.1	.	.	.	.	.	.	.	.	.	.	A	11.13	1.548255	0.27652	.	.	ENSG00000173166	ENST00000319170;ENST00000374493	T;T	0.39229	1.1;1.09	4.23	0.321	0.15883	.	.	.	.	.	T	0.18841	0.0452	N	0.04880	-0.145	0.09310	N	0.999997	B	0.02656	0.0	B	0.01281	0.0	T	0.18116	-1.0347	9	0.35671	T	0.21	.	5.1035	0.14772	0.6188:0.1447:0.2365:0.0	.	1040	Q70E73	RAPH1_HUMAN	A	1040;1092	ENSP00000316543:V1040A;ENSP00000363617:V1092A	ENSP00000316543:V1040A	V	-	2	0	RAPH1	204013039	0.003000	0.15002	0.000000	0.03702	0.609000	0.37215	1.477000	0.35431	-0.118000	0.11851	0.383000	0.25322	GTT		0.537	RAPH1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256363.2	NM_025252		53	100	0	0	0	0.870114	0	53	100					G	204304794	A	G	204304794	3	3	41	1	0	0	0	0	1	0	0	0	13050	43	2	4	637	4	RAPH1	2	204304794	Missense_Mutation	SNP	A	TCGA-CH-5791-01A-11D-1576-08	62844721	204304794	38894579	7	2194											
COL4A3	1285	broad.mit.edu	37	chr2	228155518	228155518	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ggtcgagcaggaagaccaggCctcccaggtattcatggtct	9	8	13	11	1	2	1	1	0	1	1	4	3	3	2	3	5	1	2	3	5	2	2			TCGA-CH-5791-01A-11D-1576-08	TCGA-CH-5791-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f104f5f-f816-42cf-bdf5-65cbf9d7a5d4	8b462258-f66d-4893-a6f8-245278d1ce9d	g.chr2:228155518C>A	ENST00000396578.3	+	37	3288	c.3126C>A	c.(3124-3126)ggC>ggA	p.G1042G	AC097662.2_ENST00000433324.1_RNA|AC097662.2_ENST00000439598.2_RNA|AC097662.2_ENST00000396588.2_RNA	NM_000091.4	NP_000082.2	Q01955	CO4A3_HUMAN	collagen, type IV, alpha 3 (Goodpasture antigen)	1042	Triple-helical region.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|axon guidance (GO:0007411)|blood circulation (GO:0008015)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|collagen catabolic process (GO:0030574)|endothelial cell apoptotic process (GO:0072577)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glomerular basement membrane development (GO:0032836)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell proliferation (GO:0008285)|negative regulation of endopeptidase activity (GO:0010951)|sensory perception of sound (GO:0007605)	basement membrane (GO:0005604)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)|integrin binding (GO:0005178)|metalloendopeptidase inhibitor activity (GO:0008191)|structural molecule activity (GO:0005198)	p.G1042G(2)		NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247)		Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187)		GAAGACCAGGCCTCCCAGGTA	0.488																																						ENST00000396578.3																			2	Substitution - coding silent(2)	p.G1042G(2)	prostate(2)	NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	55						c.(3124-3126)ggC>ggA		collagen, type IV, alpha 3 (Goodpasture antigen)							70	68	68					2																	228155518		1861	4097	5958	SO:0001819	synonymous_variant	1285				activation of caspase activity|axon guidance|blood circulation|cell adhesion|cell proliferation|cell surface receptor linked signaling pathway|glomerular basement membrane development|induction of apoptosis|negative regulation of angiogenesis|negative regulation of cell proliferation|sensory perception of sound	collagen type IV	extracellular matrix structural constituent|integrin binding|metalloendopeptidase inhibitor activity	g.chr2:228155518C>A		CCDS42829.1	2q36-q37	2014-09-17			ENSG00000169031	ENSG00000169031		"Collagens"	2204	protein-coding gene	gene with protein product	"tumstatin"	120070				1737849	Standard	NM_000091		Approved		uc002vom.2	Q01955	OTTHUMG00000149891	ENST00000396578.3:c.3126C>A	2.37:g.228155518C>A						AC097662.2_ENST00000439598.2_RNA|AC097662.2_ENST00000433324.1_RNA|AC097662.2_ENST00000396588.2_RNA	p.G1042G	NM_000091.4	NP_000082.2	Q01955	CO4A3_HUMAN		Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187)	37	3288	+		all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247)	1042			Triple-helical region.		Q53QQ1|Q53R14|Q53RW8|Q9BQT2|Q9NYC4|Q9UDJ9|Q9UDK9|Q9UDL0|Q9UDL1	Silent	SNP	ENST00000396578.3	37	c.3126C>A	CCDS42829.1																																																																																				0.488	COL4A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331409.2	NM_000091		3	61	1	0	0.115264	0.115264	0.126419	3	61					A	228155518	C	A	228155518	2	1	41	1	0	0	0	0	0	0	0	1	3691	726	26	5		5	COL4A3	2	228155518	Silent	SNP	C	TCGA-CH-5791-01A-11D-1576-08	23850724	228155518	15043855	8	2195											
PID1	55022	broad.mit.edu	37	chr2	229890759	229890759	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcttccagagctcaatgacTggcttttctgtgcagcctga	7	14	9	11	0	3	3	1	2	2	1	4	3	4	3	2	1	3	3	2	1	1	4			TCGA-CH-5791-01A-11D-1576-08	TCGA-CH-5791-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f104f5f-f816-42cf-bdf5-65cbf9d7a5d4	8b462258-f66d-4893-a6f8-245278d1ce9d	g.chr2:229890759T>A	ENST00000354069.6	-	3	372	c.342A>T	c.(340-342)ccA>ccT	p.P114P	PID1_ENST00000409462.1_Silent_p.P32P|PID1_ENST00000392055.3_Silent_p.P81P|PID1_ENST00000392054.3_Silent_p.P112P|PID1_ENST00000482518.2_Intron			Q7Z2X4	PCLI1_HUMAN	phosphotyrosine interaction domain containing 1	114	PID. {ECO:0000255|PROSITE- ProRule:PRU00148}.				cellular response to cytokine stimulus (GO:0071345)|cellular response to fatty acid (GO:0071398)|cellular response to interleukin-6 (GO:0071354)|cellular response to leptin stimulus (GO:0044320)|cellular response to tumor necrosis factor (GO:0071356)|energy reserve metabolic process (GO:0006112)|mitochondrion morphogenesis (GO:0070584)|negative regulation of ATP biosynthetic process (GO:2001170)|negative regulation of establishment of protein localization to plasma membrane (GO:0090005)|negative regulation of glucose import in response to insulin stimulus (GO:2001274)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of mitochondrial DNA replication (GO:0090298)|negative regulation of protein phosphorylation (GO:0001933)|positive regulation of ATP biosynthetic process (GO:2001171)|positive regulation of fat cell proliferation (GO:0070346)|positive regulation of gene expression (GO:0010628)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of G1/S transition of mitotic cell cycle (GO:2000045)|regulation of mitochondrial fusion (GO:0010635)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of reactive oxygen species metabolic process (GO:2000377)	cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.P112P(1)		breast(4)|endometrium(3)|large_intestine(5)|lung(8)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	26		Renal(207;0.0112)|all_lung(227;0.0191)|Lung NSC(271;0.0851)|all_hematologic(139;0.104)|Acute lymphoblastic leukemia(138;0.171)		Epithelial(121;3.08e-11)|all cancers(144;2.28e-08)|LUSC - Lung squamous cell carcinoma(224;0.0145)|Lung(261;0.0189)		GCTCAATGACTGGCTTTTCTG	0.532																																						ENST00000392054.3																			1	Substitution - coding silent(1)	p.P112P(1)	prostate(1)	breast(4)|endometrium(3)|large_intestine(5)|lung(8)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	26						c.(334-336)ccA>ccT		phosphotyrosine interaction domain containing 1							79	76	77					2																	229890759		2203	4300	6503	SO:0001819	synonymous_variant	55022					cytoplasm		g.chr2:229890759T>A	AK096636	CCDS2471.1, CCDS42830.1	2q36.3	2007-02-02			ENSG00000153823	ENSG00000153823			26084	protein-coding gene	gene with protein product		612930				17124247, 16815647, 15221005	Standard	NM_001100818		Approved	NYGGF4, FLJ20701	uc002vps.4	Q7Z2X4	OTTHUMG00000133191	ENST00000354069.6:c.342A>T	2.37:g.229890759T>A						PID1_ENST00000392055.3_Silent_p.P81P|PID1_ENST00000354069.6_Silent_p.P114P|PID1_ENST00000409462.1_Silent_p.P32P|PID1_ENST00000482518.2_Intron	p.P112P	NM_017933.4	NP_060403.3	Q7Z2X4	PCLI1_HUMAN		Epithelial(121;3.08e-11)|all cancers(144;2.28e-08)|LUSC - Lung squamous cell carcinoma(224;0.0145)|Lung(261;0.0189)	4	675	-		Renal(207;0.0112)|all_lung(227;0.0191)|Lung NSC(271;0.0851)|all_hematologic(139;0.104)|Acute lymphoblastic leukemia(138;0.171)	114			PID.		B3KU82|Q68CJ2|Q6ZUS3|Q8IXL0|Q9NWP6	Silent	SNP	ENST00000354069.6	37	c.336A>T																																																																																					0.532	PID1-005	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000331810.2	NM_017933		10	88	0	0	0	0.38729	0	10	88					A	229890759	T	A	229890759	2	1	41	1	0	0	0	0	0	0	0	1	11882	1567	55	5		5	PID1	2	229890759	Silent	SNP	T	TCGA-CH-5791-01A-11D-1576-08	1735241	229890759	13308614	9	2196											
FILIP1L	11259	broad.mit.edu	37	chr3	99568295	99568295	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttttgcaggactgagtgaTctccctggaggtgacatatt	8	15	11	7	0	1	3	0	3	1	0	2	5	1	5	1	3	1	1	1	3	1	5	rs559963545	byFrequency	TCGA-CH-5791-01A-11D-1576-08	TCGA-CH-5791-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f104f5f-f816-42cf-bdf5-65cbf9d7a5d4	8b462258-f66d-4893-a6f8-245278d1ce9d	g.chr3:99568295T>G	ENST00000354552.3	-	5	2695	c.2225A>C	c.(2224-2226)gAt>gCt	p.D742A	CMSS1_ENST00000496116.1_Intron|CMSS1_ENST00000421999.2_Intron|FILIP1L_ENST00000487087.1_Missense_Mutation_p.D318A|FILIP1L_ENST00000476723.1_Intron|FILIP1L_ENST00000331335.5_Missense_Mutation_p.D742A|FILIP1L_ENST00000471562.1_Missense_Mutation_p.D502A|FILIP1L_ENST00000383694.2_Missense_Mutation_p.D502A	NM_182909.2	NP_878913.2	Q4L180	FIL1L_HUMAN	filamin A interacting protein 1-like	742						cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)		p.D742A(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	35						GACTGAGTGATCTCCCTGGAG	0.408																																						ENST00000331335.5																			1	Substitution - Missense(1)	p.D742A(1)	prostate(1)	breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	35						c.(2224-2226)gAt>gCt		filamin A interacting protein 1-like							179	158	165					3																	99568295		1863	4102	5965	SO:0001583	missense	11259					cytoplasm|membrane|myosin complex|nucleus		g.chr3:99568295T>G		CCDS43117.1, CCDS43118.1, CCDS43119.1, CCDS63700.1, CCDS74969.1	3q12.1	2011-10-21			ENSG00000168386	ENSG00000168386			24589	protein-coding gene	gene with protein product	"downregulated in ovarian cancer 1", "GPBP-interacting protein of 130 kDa"	612993				8314147, 15935955, 21832087	Standard	NM_001282793		Approved	DOC-1, GIP130	uc003dtm.3	Q4L180	OTTHUMG00000159055	ENST00000354552.3:c.2225A>C	3.37:g.99568295T>G	ENSP00000346560:p.Asp742Ala					CMSS1_ENST00000496116.1_Intron|FILIP1L_ENST00000471562.1_Missense_Mutation_p.D502A|FILIP1L_ENST00000383694.2_Missense_Mutation_p.D502A|CMSS1_ENST00000421999.2_Intron|FILIP1L_ENST00000487087.1_Missense_Mutation_p.D318A|FILIP1L_ENST00000476723.1_Intron|FILIP1L_ENST00000354552.3_Missense_Mutation_p.D742A	p.D742A	NM_001042459.1	NP_001035924.1	Q4L180	FIL1L_HUMAN			5	2695	-			742					B2CNV7|B2CNV8|Q13597|Q2YDY5|Q6KFX5|Q6KFX6|Q6KFX7|Q8IUM3|Q8N6Z0	Missense_Mutation	SNP	ENST00000354552.3	37	c.2225A>C	CCDS43117.1	.	.	.	.	.	.	.	.	.	.	T	14.06	2.422214	0.43020	.	.	ENSG00000168386	ENST00000354552;ENST00000487087;ENST00000471562;ENST00000331335;ENST00000383694;ENST00000441620;ENST00000495625	T;T;T;T;T;T	0.51071	1.01;0.74;0.72;1.01;0.72;0.78	5.62	4.45	0.53987	.	0.000000	0.51477	D	0.000097	T	0.60183	0.2249	L	0.55990	1.75	0.46298	D	0.998974	D;D	0.76494	0.999;0.999	D;D	0.69479	0.964;0.922	T	0.58200	-0.7678	10	0.42905	T	0.14	-13.5327	11.3492	0.49577	0.0:0.0711:0.0:0.9289	.	742;742	Q4L180-2;Q4L180	.;FIL1L_HUMAN	A	742;318;502;742;502;488;502	ENSP00000346560:D742A;ENSP00000417774:D318A;ENSP00000419642:D502A;ENSP00000327880:D742A;ENSP00000373192:D502A;ENSP00000419874:D502A	ENSP00000327880:D742A	D	-	2	0	FILIP1L	101050985	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	5.077000	0.64419	0.958000	0.37956	0.383000	0.25322	GAT		0.408	FILIP1L-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000353069.1	NM_014890		10	393	0	0	0	0.361761	0	10	393					G	99568295	T	G	99568295	3	3	41	1	0	0	0	0	1	0	0	0	5895	1435	50	5	1211	5	FILIP1L	3	99568295	Missense_Mutation	SNP	T	TCGA-CH-5791-01A-11D-1576-08		99568295	98454135	10	2197											
BCL6	604	broad.mit.edu	37	chr3	187447645	187447645	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggacaggccactgtacaggCtgggggcaaaggctctgctc	8	7	15	11	0	1	0	0	0	1	0	2	1	1	1	1	6	2	5	1	6	2	1			TCGA-CH-5791-01A-11D-1576-08	TCGA-CH-5791-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f104f5f-f816-42cf-bdf5-65cbf9d7a5d4	8b462258-f66d-4893-a6f8-245278d1ce9d	g.chr3:187447645C>T	ENST00000406870.2	-	5	914	c.548G>A	c.(547-549)aGc>aAc	p.S183N	BCL6_ENST00000450123.2_Missense_Mutation_p.S183N|RP11-211G3.3_ENST00000449623.1_Intron|RP11-211G3.3_ENST00000437407.1_Intron|BCL6_ENST00000232014.4_Missense_Mutation_p.S183N	NM_001706.4	NP_001697.2	P41182	BCL6_HUMAN	B-cell CLL/lymphoma 6	183					actin cytoskeleton organization (GO:0030036)|B cell differentiation (GO:0030183)|cell morphogenesis (GO:0000902)|cellular response to DNA damage stimulus (GO:0006974)|erythrocyte development (GO:0048821)|germinal center formation (GO:0002467)|inflammatory response (GO:0006954)|negative regulation of B cell apoptotic process (GO:0002903)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of isotype switching to IgE isotypes (GO:0048294)|negative regulation of mast cell cytokine production (GO:0032764)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of T-helper 2 cell differentiation (GO:0045629)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of type 2 immune response (GO:0002829)|positive regulation of apoptotic process (GO:0043065)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cellular component movement (GO:0051272)|protein import into nucleus, translocation (GO:0000060)|regulation of germinal center formation (GO:0002634)|regulation of immune response (GO:0050776)|regulation of inflammatory response (GO:0050727)|regulation of memory T cell differentiation (GO:0043380)|regulation of Rho GTPase activity (GO:0032319)|Rho protein signal transduction (GO:0007266)|spermatogenesis (GO:0007283)|type 2 immune response (GO:0042092)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|metal ion binding (GO:0046872)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.S183N(1)		central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(9)|lung(10)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	40	all_cancers(143;9.45e-12)|Ovarian(172;0.0418)		OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.0141)		ACTGTACAGGCTGGGGGCAAA	0.602			"T, Mis"	"IG loci, ZNFN1A1, LCP1, PIM1, TFRC, CIITA, NACA, HSPCB, HSPCA, HIST1H4I, IL21R,  POU2AF1, ARHH, EIF4A2, SFRS3"	"NHL, CLL"																																	ENST00000406870.2				Dom	yes		3	3q27	604	"T, Mis"	B-cell CLL/lymphoma 6			L	"IG loci, ZNFN1A1, LCP1, PIM1, TFRC, CIITA, NACA, HSPCB, HSPCA, HIST1H4I, IL21R,  POU2AF1, ARHH, EIF4A2, SFRS3"		"NHL, CLL"		1	Substitution - Missense(1)	p.S183N(1)	prostate(1)	central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(9)|lung(10)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	40						c.(547-549)aGc>aAc		B-cell CLL/lymphoma 6							65	64	64					3																	187447645		2203	4300	6503	SO:0001583	missense	604				negative regulation of B cell apoptosis|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|protein import into nucleus, translocation|regulation of germinal center formation|response to DNA damage stimulus	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr3:187447645C>T		CCDS3289.1, CCDS46975.1	3q27	2013-01-09	2008-08-01		ENSG00000113916	ENSG00000113916		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	1001	protein-coding gene	gene with protein product		109565	"zinc finger protein 51"	ZNF51			Standard	NM_001130845		Approved	ZBTB27, LAZ3, BCL5, BCL6A	uc003frq.2	P41182	OTTHUMG00000156441	ENST00000406870.2:c.548G>A	3.37:g.187447645C>T	ENSP00000384371:p.Ser183Asn					BCL6_ENST00000232014.4_Missense_Mutation_p.S183N|RP11-211G3.3_ENST00000437407.1_Intron|RP11-211G3.3_ENST00000449623.1_Intron|BCL6_ENST00000450123.2_Missense_Mutation_p.S183N	p.S183N	NM_001706.4	NP_001697.2	P41182	BCL6_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.0141)	5	914	-	all_cancers(143;9.45e-12)|Ovarian(172;0.0418)		183					A7E241|B8PSA7|D3DNV5	Missense_Mutation	SNP	ENST00000406870.2	37	c.548G>A	CCDS3289.1	.	.	.	.	.	.	.	.	.	.	C	2.867	-0.234892	0.05983	.	.	ENSG00000113916	ENST00000406870;ENST00000232014;ENST00000450123	T;T;T	0.07444	3.19;3.19;3.21	5.47	3.62	0.41486	.	0.329105	0.42420	D	0.000705	T	0.03915	0.0110	N	0.08118	0	0.25257	N	0.989621	B;B	0.06786	0.0;0.001	B;B	0.06405	0.0;0.002	T	0.43114	-0.9411	10	0.12766	T	0.61	.	9.9457	0.41607	0.0:0.7776:0.1458:0.0766	.	183;183	B8PSA7;P41182	.;BCL6_HUMAN	N	183	ENSP00000384371:S183N;ENSP00000232014:S183N;ENSP00000413122:S183N	ENSP00000232014:S183N	S	-	2	0	BCL6	188930339	1.000000	0.71417	0.996000	0.52242	0.998000	0.95712	2.862000	0.48388	1.434000	0.47414	0.556000	0.70494	AGC		0.602	BCL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344202.1	NM_138931		30	38	0	0	0	0.740014	0	30	38					T	187447645	C	T	187447645	3	4	41	1	0	0	0	0	1	0	0	0	1376	797	28	3	1596	3	BCL6	3	187447645	Missense_Mutation	SNP	C	TCGA-CH-5791-01A-11D-1576-08	87879350	187447645	10574785	11	2198											
GRXCR1	389207	broad.mit.edu	37	chr4	42895345	42895345	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaagtccggtttcggatcgCgtcctctcacagtgggcgag	7	9	14	11	5	1	0	1	0	1	0	6	3	3	1	2	3	0	1	2	3	1	1			TCGA-CH-5791-01A-11D-1576-08	TCGA-CH-5791-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f104f5f-f816-42cf-bdf5-65cbf9d7a5d4	8b462258-f66d-4893-a6f8-245278d1ce9d	g.chr4:42895345C>T	ENST00000399770.2	+	1	62	c.62C>T	c.(61-63)gCg>gTg	p.A21V	RN7SKP82_ENST00000516786.1_RNA	NM_001080476.2	NP_001073945.1	A8MXD5	GRCR1_HUMAN	glutaredoxin, cysteine rich 1	21					auditory receptor cell differentiation (GO:0042491)|cell redox homeostasis (GO:0045454)|inner ear receptor cell development (GO:0060119)|inner ear receptor stereocilium organization (GO:0060122)|negative regulation of phosphatase activity (GO:0010923)|post-embryonic organ morphogenesis (GO:0048563)|sensory perception of sound (GO:0007605)|vestibular receptor cell development (GO:0060118)	kinocilium (GO:0060091)|stereocilium (GO:0032420)	electron carrier activity (GO:0009055)|protein disulfide oxidoreductase activity (GO:0015035)	p.A21V(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(22)|ovary(1)|prostate(2)|skin(1)	32						TTTCGGATCGCGTCCTCTCAC	0.507																																						ENST00000399770.2																			1	Substitution - Missense(1)	p.A21V(1)	prostate(1)	breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(22)|ovary(1)|prostate(2)|skin(1)	32						c.(61-63)gCg>gTg		glutaredoxin, cysteine rich 1							118	125	123					4																	42895345		2018	4180	6198	SO:0001583	missense	389207				cell redox homeostasis|inner ear receptor stereocilium organization|sensory perception of sound|vestibular receptor cell development	kinocilium|stereocilium	electron carrier activity|protein disulfide oxidoreductase activity	g.chr4:42895345C>T		CCDS43225.1	4p14	2014-06-12			ENSG00000215203	ENSG00000215203			31673	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 88"	613283	"deafness, autosomal recessive 25"	DFNB25		20137778	Standard	NM_001080476		Approved	PPP1R88	uc003gwt.3	A8MXD5	OTTHUMG00000160434	ENST00000399770.2:c.62C>T	4.37:g.42895345C>T	ENSP00000382670:p.Ala21Val						p.A21V	NM_001080476.2	NP_001073945.1	A8MXD5	GRCR1_HUMAN			1	62	+			21						Missense_Mutation	SNP	ENST00000399770.2	37	c.62C>T	CCDS43225.1	.	.	.	.	.	.	.	.	.	.	C	25.1	4.607262	0.87157	.	.	ENSG00000215203	ENST00000399770	T	0.32023	1.47	5.63	5.63	0.86233	.	0.000000	0.85682	U	0.000000	T	0.54013	0.1832	L	0.58101	1.795	0.80722	D	1	D	0.89917	1.0	D	0.78314	0.991	T	0.51529	-0.8694	10	0.56958	D	0.05	-12.2681	18.6831	0.91554	0.0:1.0:0.0:0.0	.	21	A8MXD5	GRCR1_HUMAN	V	21	ENSP00000382670:A21V	ENSP00000382670:A21V	A	+	2	0	GRXCR1	42590102	1.000000	0.71417	0.948000	0.38648	0.545000	0.35147	7.482000	0.81143	2.649000	0.89929	0.650000	0.86243	GCG		0.507	GRXCR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360576.1	NM_001080476		45	103	0	0	0	0.870114	0	45	103					T	42895345	C	T	42895345	3	4	41	1	0	0	0	0	1	0	0	0	6812	768	27	1	64	1	GRXCR1	4	42895345	Missense_Mutation	SNP	C	TCGA-CH-5791-01A-11D-1576-08		42895345	148258931	12	2199											
PPEF2	5470	broad.mit.edu	37	chr4	76813087	76813087	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcatctccaggcgggccaCgtagcgccggtaccatctct	6	8	10	17	4	3	0	1	0	2	0	5	0	3	0	5	3	2	2	5	3	2	2	rs550740753		TCGA-CH-5791-01A-11D-1576-08	TCGA-CH-5791-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f104f5f-f816-42cf-bdf5-65cbf9d7a5d4	8b462258-f66d-4893-a6f8-245278d1ce9d	g.chr4:76813087C>T	ENST00000286719.7	-	3	456	c.100G>A	c.(100-102)Gtg>Atg	p.V34M	PPEF2_ENST00000510607.1_5'UTR	NM_006239.2	NP_006230.2	O14830	PPE2_HUMAN	protein phosphatase, EF-hand calcium binding domain 2	34	IQ.				detection of stimulus involved in sensory perception (GO:0050906)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|protein dephosphorylation (GO:0006470)|regulation of JUN kinase activity (GO:0043506)|regulation of MAP kinase activity (GO:0043405)|visual perception (GO:0007601)	cilium (GO:0005929)|cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|Hsp70 protein binding (GO:0030544)|Hsp90 protein binding (GO:0051879)|iron ion binding (GO:0005506)|manganese ion binding (GO:0030145)|mitogen-activated protein kinase kinase kinase binding (GO:0031435)|protein serine/threonine phosphatase activity (GO:0004722)	p.V34M(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	50			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			AGGCGGGCCACGTAGCGCCGG	0.582																																					NSCLC(105;1359 1603 15961 44567 47947)	ENST00000286719.7																			1	Substitution - Missense(1)	p.V34M(1)	prostate(1)	breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	50						c.(100-102)Gtg>Atg		protein phosphatase, EF-hand calcium binding domain 2							62	62	62					4																	76813087		2203	4300	6503	SO:0001583	missense	5470				detection of stimulus involved in sensory perception|negative regulation of MAPKKK cascade|negative regulation of peptidyl-threonine phosphorylation|protein dephosphorylation|visual perception	cytoplasm|photoreceptor inner segment|photoreceptor outer segment	calcium ion binding|Hsp70 protein binding|Hsp90 protein binding|iron ion binding|manganese ion binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine phosphatase activity	g.chr4:76813087C>T	AF023456	CCDS34013.1	4q21.1	2013-01-10			ENSG00000156194	ENSG00000156194		"Serine/threonine phosphatases / Protein phosphatase, catalytic subunits", "EF-hand domain containing"	9244	protein-coding gene	gene with protein product	"protein phosphatase 7, catalytic subunit, beta isozyme"	602256				9326663, 12051765	Standard	NM_006239		Approved	PPP7CB	uc003hix.3	O14830	OTTHUMG00000160915	ENST00000286719.7:c.100G>A	4.37:g.76813087C>T	ENSP00000286719:p.Val34Met					PPEF2_ENST00000510607.1_5'UTR	p.V34M	NM_006239.2	NP_006230.2	O14830	PPE2_HUMAN	Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)		3	456	-			34			IQ.		O14831	Missense_Mutation	SNP	ENST00000286719.7	37	c.100G>A	CCDS34013.1	.	.	.	.	.	.	.	.	.	.	C	13.57	2.276747	0.40294	.	.	ENSG00000156194	ENST00000286719;ENST00000337500	T	0.54866	0.55	5.57	-5.02	0.02982	.	0.600201	0.18726	N	0.132886	T	0.24314	0.0589	N	0.12182	0.205	0.28285	N	0.923815	B;B	0.20052	0.022;0.041	B;B	0.16289	0.015;0.004	T	0.19257	-1.0311	10	0.18710	T	0.47	6.8105	8.2441	0.31677	0.0:0.2831:0.106:0.6109	.	34;34	O14830-2;O14830	.;PPE2_HUMAN	M	34	ENSP00000286719:V34M	ENSP00000286719:V34M	V	-	1	0	PPEF2	77032111	0.001000	0.12720	0.752000	0.31206	0.948000	0.59901	-0.072000	0.11486	-0.798000	0.04444	-0.216000	0.12614	GTG		0.582	PPEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362929.1	NM_006239		22	79	0	0	0	0.639603	0	22	79					T	76813087	C	T	76813087	3	4	41	1	0	0	0	0	1	0	0	0	12308	536	19	1	2221	1	PPEF2	4	76813087	Missense_Mutation	SNP	C	TCGA-CH-5791-01A-11D-1576-08	33917742	76813087	114341189	13	2200											
FRAS1	80144	broad.mit.edu	37	chr4	79343065	79343065	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctcctatccggtatttcaCgcaagaggatattaaccagg	11	11	8	11	2	2	1	1	0	1	1	4	2	3	2	3	3	1	2	3	3	5	5			TCGA-CH-5791-01A-11D-1576-08	TCGA-CH-5791-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f104f5f-f816-42cf-bdf5-65cbf9d7a5d4	8b462258-f66d-4893-a6f8-245278d1ce9d	g.chr4:79343065C>T	ENST00000325942.6	+	34	5029	c.4589C>T	c.(4588-4590)aCg>aTg	p.T1530M	FRAS1_ENST00000264895.6_Missense_Mutation_p.T1530M	NM_001166133.1	NP_001159605.1	Q86XX4	FRAS1_HUMAN	Fraser extracellular matrix complex subunit 1	1530					cell communication (GO:0007154)|embryonic limb morphogenesis (GO:0030326)|metanephros morphogenesis (GO:0003338)|morphogenesis of an epithelium (GO:0002009)|palate development (GO:0060021)|protein transport (GO:0015031)|skin development (GO:0043588)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sublamina densa (GO:0061618)	metal ion binding (GO:0046872)	p.T1530M(4)		breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						CGGTATTTCACGCAAGAGGAT	0.547																																						ENST00000264895.6																			4	Substitution - Missense(4)	p.T1530M(4)	prostate(4)	breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						c.(4588-4590)aCg>aTg		Fraser syndrome 1							195	205	202					4																	79343065		2038	4171	6209	SO:0001583	missense	80144				cell communication	integral to membrane|plasma membrane	metal ion binding	g.chr4:79343065C>T	AB040933	CCDS54772.1	4q21.21	2014-06-25	2014-06-25		ENSG00000138759	ENSG00000138759			19185	protein-coding gene	gene with protein product		607830	"Fraser syndrome 1"			12766769, 3118036	Standard	NM_025074		Approved	FLJ22031, FLJ14927, KIAA1500	uc003hlb.2	Q86XX4	OTTHUMG00000160856	ENST00000325942.6:c.4589C>T	4.37:g.79343065C>T	ENSP00000326330:p.Thr1530Met					FRAS1_ENST00000325942.6_Missense_Mutation_p.T1530M	p.T1530M	NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN			34	5029	+			1529					A2RRR8|Q86UZ4|Q8N3U9|Q8NAU7|Q96JW7|Q9H6N9|Q9P228	Missense_Mutation	SNP	ENST00000325942.6	37	c.4589C>T	CCDS54772.1	.	.	.	.	.	.	.	.	.	.	C	18.71	3.681309	0.68042	.	.	ENSG00000138759	ENST00000325942;ENST00000264895	T;T	0.53423	0.62;0.62	5.81	5.81	0.92471	.	0.054528	0.64402	D	0.000001	T	0.72779	0.3503	M	0.83483	2.645	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.71870	0.975;0.965	T	0.75761	-0.3204	10	0.87932	D	0	.	19.6863	0.95981	0.0:1.0:0.0:0.0	.	1530;1530	E9PHH6;A2RRR8	.;.	M	1530	ENSP00000326330:T1530M;ENSP00000264895:T1530M	ENSP00000264895:T1530M	T	+	2	0	FRAS1	79562089	1.000000	0.71417	0.973000	0.42090	0.152000	0.21847	6.609000	0.74173	2.746000	0.94184	0.591000	0.81541	ACG		0.547	FRAS1-001	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000362706.2			93	226	0	0	0	0.870114	0	93	226					T	79343065	C	T	79343065	3	4	41	1	0	0	0	0	1	0	0	0	6042	536	19	1	4723	1	FRAS1	4	79343065	Missense_Mutation	SNP	C	TCGA-CH-5791-01A-11D-1576-08	2529978	79343065	111811211	14	2201											
PCDHGB3	56102	broad.mit.edu	37	chr5	140751730	140751739	+	Frame_Shift_Del	DEL	AGGTGGTGGC	AGGTGGTGGC	-																															gcctggctacctggtgaccaAggtggtggcggtggacgcag																								rs573101178		TCGA-CH-5791-01A-11D-1576-08	TCGA-CH-5791-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f104f5f-f816-42cf-bdf5-65cbf9d7a5d4	8b462258-f66d-4893-a6f8-245278d1ce9d	g.chr5:140751730_140751739delAGGTGGTGGC	ENST00000576222.1	+	1	1900_1909	c.1769_1778delAGGTGGTGGC	c.(1768-1779)aaggtggtggcgfs	p.KVVA590fs	PCDHGA2_ENST00000394576.2_Intron|PCDHGA6_ENST00000517434.1_5'Flank|PCDHGB2_ENST00000522605.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018924.2|NM_032097.1	NP_061747.1|NP_115268.1	Q9Y5G1	PCDGF_HUMAN	protocadherin gamma subfamily B, 3	590	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGGTGACCAAGGTGGTGGCGGTGGACGCA	0.657																																						ENST00000576222.1																			0				endometrium(1)|kidney(1)|lung(3)	5						c.(1768-1779)agfs																																						SO:0001589	frameshift_variant	0							g.chr5:140751730_140751739delAGGTGGTGGC	AF152519	CCDS58980.1, CCDS75334.1	5q31	2010-01-26						"Cadherins / Protocadherins : Clustered"	8710	other	protocadherin		606301				10380929	Standard	NM_018924		Approved	PCDH-GAMMA-B3		Q9Y5G1		ENST00000576222.1:c.1769_1778delAGGTGGTGGC	5.37:g.140751730_140751739delAGGTGGTGGC	ENSP00000461862:p.Lys590fs					PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA4_ENST00000571252.1_Intron	p.KVVA590fs	NM_018924.2|NM_032097.1	NP_061747.1|NP_115268.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1900_1909	+								A7E229|Q9Y5C7	Frame_Shift_Del	DEL	ENST00000576222.1	37	c.1769_1778delAGGTGGTGGC	CCDS58980.1																																																																																				0.657	PCDHGB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437094.1	NM_018924		20	81						20	81	---	---	---	---	-	140751739	AGGTGGTGGC	-	140751730	7	5	41	1	0	1	0	1	0	0	0	0	11564	72	3	0	1771	0	PCDHGB3	5	140751730	Frame_Shift_Del	DEL	AGGTGGTGGC	TCGA-CH-5791-01A-11D-1576-08		140751730	40163530	15	2202											
PLG	5340	broad.mit.edu	37	chr6	161139389	161139389	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggaacaggtgaaaactatcGcgggaatgtggctgttaccg	11	8	15	7	3	0	1	0	1	0	0	1	3	0	3	1	4	3	2	1	4	6	2	rs371746732		TCGA-CH-5791-01A-11D-1576-08	TCGA-CH-5791-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f104f5f-f816-42cf-bdf5-65cbf9d7a5d4	8b462258-f66d-4893-a6f8-245278d1ce9d	g.chr6:161139389G>A	ENST00000308192.9	+	8	914	c.851G>A	c.(850-852)cGc>cAc	p.R284H		NM_000301.3	NP_000292.1	P00747	PLMN_HUMAN	plasminogen	284	Kringle 3. {ECO:0000255|PROSITE- ProRule:PRU00121}.				blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|fibrinolysis (GO:0042730)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-cell adhesion mediated by cadherin (GO:2000048)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of fibrinolysis (GO:0051918)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of fibrinolysis (GO:0051919)|tissue remodeling (GO:0048771)	blood microparticle (GO:0072562)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	apolipoprotein binding (GO:0034185)|protein domain specific binding (GO:0019904)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)	p.R284H(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)	59				OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06)	Alteplase(DB00009)|Aminocaproic Acid(DB00513)|Anistreplase(DB00029)|Aprotinin(DB06692)|Reteplase(DB00015)|Streptokinase(DB00086)|Tenecteplase(DB00031)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	GAAAACTATCGCGGGAATGTG	0.493																																						ENST00000308192.9																			1	Substitution - Missense(1)	p.R284H(1)	prostate(1)	NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)	59						c.(850-852)cGc>cAc		plasminogen	Aminocaproic Acid(DB00513)|Streptokinase(DB00086)|Tranexamic Acid(DB00302)|Urokinase(DB00013)						137	128	131					6																	161139389		2203	4300	6503	SO:0001583	missense	5340				extracellular matrix disassembly|fibrinolysis|negative regulation of cell proliferation|negative regulation of cell-substrate adhesion|negative regulation of fibrinolysis|platelet activation|platelet degranulation|positive regulation of fibrinolysis|proteolysis|tissue remodeling	extracellular space|extrinsic to external side of plasma membrane|platelet alpha granule lumen	apolipoprotein binding|cell surface binding|serine-type endopeptidase activity	g.chr6:161139389G>A	M74220	CCDS5279.1, CCDS55074.1	6q26	2012-10-02			ENSG00000122194	ENSG00000122194			9071	protein-coding gene	gene with protein product		173350					Standard	NM_000301		Approved		uc003qtm.4	P00747	OTTHUMG00000015957	ENST00000308192.9:c.851G>A	6.37:g.161139389G>A	ENSP00000308938:p.Arg284His						p.R284H	NM_000301.3	NP_000292.1	P00747	PLMN_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06)	8	914	+			284			Kringle 3.		Q15146|Q5TEH4|Q6PA00	Missense_Mutation	SNP	ENST00000308192.9	37	c.851G>A	CCDS5279.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.151594	0.78001	.	.	ENSG00000122194	ENST00000308192	T	0.69926	-0.44	5.21	3.41	0.39046	Kringle (4);Kringle-like fold (1);	0.238259	0.20776	U	0.085891	T	0.81870	0.4914	H	0.97186	3.955	0.39183	D	0.962827	D	0.89917	1.0	D	0.68765	0.96	D	0.84806	0.0787	10	0.87932	D	0	.	9.45	0.38721	0.0763:0.0:0.7805:0.1432	.	284	P00747	PLMN_HUMAN	H	284	ENSP00000308938:R284H	ENSP00000308938:R284H	R	+	2	0	PLG	161059379	0.839000	0.29477	0.006000	0.13384	0.100000	0.18952	4.588000	0.60999	0.684000	0.31448	0.591000	0.81541	CGC		0.493	PLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042959.2	NM_000301		40	170	0	0	0	0.859065	0	40	170					A	161139389	G	A	161139389	3	1	41	1	0	0	0	0	1	0	0	0	12086	1087	38	1	885	1	PLG	6	161139389	Missense_Mutation	SNP	G	TCGA-CH-5791-01A-11D-1576-08		161139389	9975678	16	2203											
INHBA	3624	broad.mit.edu	37	chr7	41739653	41739653	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcatttctgccctccttccaAtgtcatcctctatctccaca	7	15	2	17	0	5	0	2	0	3	0	9	0	8	0	5	0	1	0	5	0	2	3			TCGA-CH-5791-01A-11D-1576-08	TCGA-CH-5791-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f104f5f-f816-42cf-bdf5-65cbf9d7a5d4	8b462258-f66d-4893-a6f8-245278d1ce9d	g.chr7:41739653A>T	ENST00000242208.4	-	2	566	c.320T>A	c.(319-321)aTt>aAt	p.I107N	INHBA-AS1_ENST00000422822.1_RNA|INHBA-AS1_ENST00000420821.1_RNA|INHBA_ENST00000442711.1_Missense_Mutation_p.I107N|AC005027.3_ENST00000416150.1_RNA|INHBA-AS1_ENST00000415848.2_RNA	NM_002192.2	NP_002183.1	P08476	INHBA_HUMAN	inhibin, beta A	107					activin receptor signaling pathway (GO:0032924)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|cellular response to cholesterol (GO:0071397)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|defense response (GO:0006952)|endodermal cell differentiation (GO:0035987)|erythrocyte differentiation (GO:0030218)|extrinsic apoptotic signaling pathway (GO:0097191)|eyelid development in camera-type eye (GO:0061029)|G1/S transition of mitotic cell cycle (GO:0000082)|growth (GO:0040007)|hair follicle development (GO:0001942)|hematopoietic progenitor cell differentiation (GO:0002244)|hemoglobin biosynthetic process (GO:0042541)|male gonad development (GO:0008584)|mesodermal cell differentiation (GO:0048333)|negative regulation of B cell differentiation (GO:0045578)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of follicle-stimulating hormone secretion (GO:0046882)|negative regulation of interferon-gamma biosynthetic process (GO:0045077)|negative regulation of macrophage differentiation (GO:0045650)|negative regulation of phosphorylation (GO:0042326)|nervous system development (GO:0007399)|odontogenesis (GO:0042476)|ovarian follicle development (GO:0001541)|palate development (GO:0060021)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of follicle-stimulating hormone secretion (GO:0046881)|positive regulation of ovulation (GO:0060279)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|progesterone secretion (GO:0042701)|regulation of follicle-stimulating hormone secretion (GO:0046880)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to drug (GO:0042493)	activin A complex (GO:0043509)|extracellular region (GO:0005576)|inhibin A complex (GO:0043512)	cytokine activity (GO:0005125)|growth factor activity (GO:0008083)|hormone activity (GO:0005179)|identical protein binding (GO:0042802)|peptide hormone binding (GO:0017046)|type II activin receptor binding (GO:0070699)	p.I107N(1)		biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(15)|lung(26)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						CCTCCTTCCAATGTCATCCTC	0.562										TSP Lung(11;0.080)																												ENST00000242208.4																			1	Substitution - Missense(1)	p.I107N(1)	prostate(1)	biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(15)|lung(26)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						c.(319-321)aTt>aAt		inhibin, beta A							302	302	302					7																	41739653		2203	4300	6503	SO:0001583	missense	3624				cell cycle arrest|cell surface receptor linked signaling pathway|defense response|erythrocyte differentiation|eyelid development in camera-type eye|G1/S transition of mitotic cell cycle|growth|hair follicle development|hemoglobin biosynthetic process|hemopoietic progenitor cell differentiation|induction of apoptosis|male gonad development|negative regulation of B cell differentiation|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of follicle-stimulating hormone secretion|negative regulation of interferon-gamma biosynthetic process|negative regulation of macrophage differentiation|negative regulation of phosphorylation|nervous system development|odontogenesis|ovarian follicle development|palate development|positive regulation of erythrocyte differentiation|positive regulation of follicle-stimulating hormone secretion|positive regulation of ovulation|positive regulation of transcription from RNA polymerase II promoter|progesterone secretion|regulation of activin receptor signaling pathway	activin A complex|inhibin A complex	cytokine activity|follistatin binding|growth factor activity|hormone activity|identical protein binding|signal transducer activity	g.chr7:41739653A>T		CCDS5464.1	7p15-p13	2014-01-30	2007-07-30		ENSG00000122641	ENSG00000122641		"Endogenous ligands"	6066	protein-coding gene	gene with protein product		147290	"inhibin, beta A (activin A, activin AB alpha polypeptide)"			3345731	Standard	NM_002192		Approved		uc003thr.3	P08476	OTTHUMG00000023574	ENST00000242208.4:c.320T>A	7.37:g.41739653A>T	ENSP00000242208:p.Ile107Asn	TSP Lung(11;0.080)				INHBA-AS1_ENST00000415848.2_RNA|INHBA-AS1_ENST00000422822.1_RNA|INHBA_ENST00000442711.1_Missense_Mutation_p.I107N|INHBA-AS1_ENST00000420821.1_RNA|AC005027.3_ENST00000416150.1_RNA	p.I107N	NM_002192.2	NP_002183.1	P08476	INHBA_HUMAN			2	566	-			107					Q14599	Missense_Mutation	SNP	ENST00000242208.4	37	c.320T>A	CCDS5464.1	.	.	.	.	.	.	.	.	.	.	A	14.45	2.537888	0.45176	.	.	ENSG00000122641	ENST00000242208;ENST00000442711	T;T	0.64991	-0.13;-0.13	5.49	5.49	0.81192	Transforming growth factor-beta, N-terminal (1);	0.385893	0.28784	N	0.014141	T	0.48021	0.1477	N	0.14661	0.345	0.44595	D	0.997568	B	0.25007	0.116	B	0.30251	0.113	T	0.42515	-0.9447	10	0.27082	T	0.32	-14.0353	15.5949	0.76572	1.0:0.0:0.0:0.0	.	107	P08476	INHBA_HUMAN	N	107	ENSP00000242208:I107N;ENSP00000397197:I107N	ENSP00000242208:I107N	I	-	2	0	INHBA	41706178	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.152000	0.42272	2.083000	0.62718	0.533000	0.62120	ATT		0.562	INHBA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250793.1			19	758	0	0	0	0.575678	0	19	758					T	41739653	A	T	41739653	3	4	41	1	0	0	0	0	1	0	0	0	7741	101	4	5	968	5	INHBA	7	41739653	Missense_Mutation	SNP	A	TCGA-CH-5791-01A-11D-1576-08		41739653	117399010	17	2204											
ZKSCAN5	23660	broad.mit.edu	37	chr7	99110202	99110202	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgccacagaagcctcgtctcCtggaggaaaatggtgaggct	10	7	13	11	2	1	2	0	1	1	1	3	4	1	4	3	4	1	1	3	4	3	0			TCGA-CH-5791-01A-11D-1576-08	TCGA-CH-5791-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f104f5f-f816-42cf-bdf5-65cbf9d7a5d4	8b462258-f66d-4893-a6f8-245278d1ce9d	g.chr7:99110202C>G	ENST00000394170.2	+	3	792	c.541C>G	c.(541-543)Ctg>Gtg	p.L181V	ZKSCAN5_ENST00000326775.5_Missense_Mutation_p.L181V|ZKSCAN5_ENST00000451158.1_Missense_Mutation_p.L181V	NM_014569.3	NP_055384.1	Q9Y2L8	ZKSC5_HUMAN	zinc finger with KRAB and SCAN domains 5	181					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.L181V(1)		breast(3)|endometrium(1)|kidney(1)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	21	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)					GCCTCGTCTCCTGGAGGAAAA	0.587																																						ENST00000394170.2																			1	Substitution - Missense(1)	p.L181V(1)	prostate(1)	breast(3)|endometrium(1)|kidney(1)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	21						c.(541-543)Ctg>Gtg		zinc finger with KRAB and SCAN domains 5							76	67	70					7																	99110202		2203	4300	6503	SO:0001583	missense	23660				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr7:99110202C>G	AF170025	CCDS5667.1	7q22	2013-01-09	2007-02-20	2007-02-20	ENSG00000196652	ENSG00000196652		"Zinc fingers, C2H2-type", "-", "-", "-"	12867	protein-coding gene	gene with protein product		611272	"zinc finger protein homologous to Zfp95 in mouse", "zinc finger protein 95 homolog (mouse)"	ZFP95		10585779	Standard	NM_014569		Approved	ZNF914, ZSCAN37	uc003uqv.3	Q9Y2L8	OTTHUMG00000156749	ENST00000394170.2:c.541C>G	7.37:g.99110202C>G	ENSP00000377725:p.Leu181Val					ZKSCAN5_ENST00000326775.5_Missense_Mutation_p.L181V|ZKSCAN5_ENST00000451158.1_Missense_Mutation_p.L181V	p.L181V	NM_014569.3	NP_055384.1	Q9Y2L8	ZKSC5_HUMAN			3	792	+	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)		181					A4D280|D6W5S9	Missense_Mutation	SNP	ENST00000394170.2	37	c.541C>G	CCDS5667.1	.	.	.	.	.	.	.	.	.	.	C	15.82	2.944935	0.53079	.	.	ENSG00000196652	ENST00000537357;ENST00000326775;ENST00000451158;ENST00000394170	T;T;T	0.06218	3.33;3.33;3.33	5.19	4.3	0.51218	.	0.437153	0.17111	N	0.186636	T	0.02970	0.0088	N	0.08118	0	0.23221	N	0.998096	P;P	0.38395	0.629;0.455	B;B	0.37198	0.243;0.163	T	0.40608	-0.9554	10	0.08179	T	0.78	.	9.0539	0.36394	0.0:0.9037:0.0:0.0963	.	181;181	Q8N718;Q9Y2L8	.;ZKSC5_HUMAN	V	181	ENSP00000322872:L181V;ENSP00000392104:L181V;ENSP00000377725:L181V	ENSP00000322872:L181V	L	+	1	2	ZKSCAN5	98948138	0.804000	0.28969	0.944000	0.38274	0.959000	0.62525	1.254000	0.32897	2.881000	0.98747	0.650000	0.86243	CTG		0.587	ZKSCAN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345597.1	NM_014569		20	35	0	0	0	0.592651	0	20	35					G	99110202	C	G	99110202	3	3	41	1	0	0	0	0	1	0	0	0	17687	680	24	5	547	5	ZKSCAN5	7	99110202	Missense_Mutation	SNP	C	TCGA-CH-5791-01A-11D-1576-08	57370549	99110202	60028461	18	2205											
SSPO	23145	broad.mit.edu	37	chr7	149526028	149526028	+	RNA	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	actctctccctctgcagggcGaggagatggtgctggagcca	7	8	14	12	1	2	1	0	0	2	1	4	4	3	2	2	4	3	2	2	4	0	0			TCGA-CH-5791-01A-11D-1576-08	TCGA-CH-5791-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f104f5f-f816-42cf-bdf5-65cbf9d7a5d4	8b462258-f66d-4893-a6f8-245278d1ce9d	g.chr7:149526028G>A	ENST00000378016.2	+	0	15085							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion (GO:0007155)	extracellular space (GO:0005615)	peptidase inhibitor activity (GO:0030414)					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			TCTGCAGGGCGAGGAGATGGT	0.667																																						ENST00000378016.2																			0													SCO-spondin							42	50	48					7																	149526028		2061	4196	6257			23145				cell adhesion	extracellular space	peptidase inhibitor activity	g.chr7:149526028G>A	AK093431		7q36.1	2013-08-07	2013-08-06		ENSG00000197558	ENSG00000197558			21998	protein-coding gene	gene with protein product	"subcommissural organ spondin", "SCO protein, thrombospondin domain containing"		"SCO-spondin homolog (Bos taurus)"			8743952, 11008217	Standard	NM_198455		Approved	SCO-spondin, KIAA0543, FLJ36112	uc010lpk.3	A2VEC9	OTTHUMG00000157884		7.37:g.149526028G>A										A2VEC9	SSPO_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00625)		0	15085	+	Melanoma(164;0.165)|Ovarian(565;0.177)							Q76B61	RNA	SNP	ENST00000378016.2	37																																																																																						0.667	SSPO-202	KNOWN	basic	processed_transcript	processed_transcript				8	6	0	0	0	0.307466	0	8	6					A	149526028	G	A	149526028	1	1	41	0	1	0	0	0	0	0	0	0	15188	1059	37	2		2	SSPO	7	149526028	RNA	SNP	G	TCGA-CH-5791-01A-11D-1576-08	50415826	149526028	9612635	19	2206											
ZFHX4	79776	broad.mit.edu	37	chr8	77764257	77764257	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attcagatgcaactacagcaCgaattacaacagcaagccgc	16	6	7	12	2	1	1	1	0	0	1	1	2	1	1	1	0	8	3	1	0	6	3	rs201856490		TCGA-CH-5791-01A-11D-1576-08	TCGA-CH-5791-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f104f5f-f816-42cf-bdf5-65cbf9d7a5d4	8b462258-f66d-4893-a6f8-245278d1ce9d	g.chr8:77764257C>T	ENST00000521891.2	+	10	5548	c.5100C>T	c.(5098-5100)caC>caT	p.H1700H	ZFHX4_ENST00000455469.2_Silent_p.H1655H|ZFHX4_ENST00000518282.1_Silent_p.H1674H|ZFHX4_ENST00000050961.6_Silent_p.H1655H	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	1655	Gln-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)	p.H1700H(2)		NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			AACTACAGCACGAATTACAAC	0.443										HNSCC(33;0.089)																												ENST00000521891.2																			2	Substitution - coding silent(2)	p.H1700H(2)	prostate(2)	NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432						c.(5098-5100)caC>caT		zinc finger homeobox 4		C		1,4115		0,1,2057	106	105	105		5100	-5.5	1	8		105	5,8447		0,5,4221	no	coding-synonymous	ZFHX4	NM_024721.4		0,6,6278	TT,TC,CC		0.0592,0.0243,0.0477		1700/3617	77764257	6,12562	2058	4226	6284	SO:0001819	synonymous_variant	79776					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:77764257C>T		CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"Homeoboxes / ZF class"	30939	protein-coding gene	gene with protein product		606940	"zinc finger homeodomain 4"			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.5100C>T	8.37:g.77764257C>T		HNSCC(33;0.089)				ZFHX4_ENST00000518282.1_Silent_p.H1674H|ZFHX4_ENST00000455469.2_Silent_p.H1655H|ZFHX4_ENST00000050961.6_Silent_p.H1655H	p.H1700H	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.0895)		10	5548	+			1655			Gln-rich.		G3V138|Q18PS0|Q6ZN20	Silent	SNP	ENST00000521891.2	37	c.5100C>T	CCDS47878.2																																																																																				0.443	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	NM_024721		24	96	0	0	0	0.654019	0	24	96					T	77764257	C	T	77764257	2	4	41	1	0	0	0	0	0	0	0	1	17632	535	19	1		1	ZFHX4	8	77764257	Silent	SNP	C	TCGA-CH-5791-01A-11D-1576-08		77764257	68599765	20	2207											
RSPO2	340419	broad.mit.edu	37	chr8	109001381	109001383	+	In_Frame_Del	DEL	GAA	GAA	-																															cgcatcccttctcttcgaagGaagaagaacaacttctgttg																										TCGA-CH-5791-01A-11D-1576-08	TCGA-CH-5791-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f104f5f-f816-42cf-bdf5-65cbf9d7a5d4	8b462258-f66d-4893-a6f8-245278d1ce9d	g.chr8:109001381_109001383delGAA	ENST00000276659.5	-	3	804_806	c.184_186delTTC	c.(184-186)ttcdel	p.F62del	RSPO2_ENST00000517781.1_Intron|RSPO2_ENST00000517939.1_5'UTR|RSPO2_ENST00000378439.2_Intron	NM_178565.4	NP_848660.3	Q6UXX9	RSPO2_HUMAN	R-spondin 2	62					bone mineralization (GO:0030282)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|lung growth (GO:0060437)|osteoblast differentiation (GO:0001649)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|trachea cartilage morphogenesis (GO:0060535)|Wnt signaling pathway (GO:0016055)	cell surface (GO:0009986)|extracellular region (GO:0005576)	heparin binding (GO:0008201)|receptor binding (GO:0005102)	p.F62S(1)	EIF3E/RSPO2(6)	haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	28			OV - Ovarian serous cystadenocarcinoma(57;1.55e-09)			CTCTTCGAAGGAAGAAGAACAAC	0.468																																						ENST00000276659.5																		EIF3E/RSPO2(6)	1	Substitution - Missense(1)	p.F62S(1)	lung(1)	haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	28						c.(184-186)del		R-spondin 2																																				SO:0001651	inframe_deletion	340419				Wnt receptor signaling pathway	extracellular region	heparin binding	g.chr8:109001381_109001383delGAA	AK123023	CCDS6307.1, CCDS64953.1	8q23.1	2014-01-30	2011-06-29		ENSG00000147655	ENSG00000147655		"Endogenous ligands"	28583	protein-coding gene	gene with protein product		610575	"R-spondin 2 homolog (Xenopus laevis)"			15469841	Standard	NM_178565		Approved	MGC35555	uc003yms.3	Q6UXX9	OTTHUMG00000164893	ENST00000276659.5:c.184_186delTTC	8.37:g.109001387_109001389delGAA	ENSP00000276659:p.Phe62del					RSPO2_ENST00000517939.1_5'UTR|RSPO2_ENST00000517781.1_Intron|RSPO2_ENST00000378439.2_Intron	p.F62del	NM_178565.4	NP_848660.3	Q6UXX9	RSPO2_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;1.55e-09)		3	804_806	-			62					B3KVP0|Q4G0U4|Q8N6X6	In_Frame_Del	DEL	ENST00000276659.5	37	c.184_186delTTC	CCDS6307.1																																																																																				0.468	RSPO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380830.1	NM_178565		47	108						47	108	---	---	---	---	-	109001383	GAA	-	109001381	7	5	41	1	0	1	0	1	0	0	0	0	13710	1165	41	0	561	0	RSPO2	8	109001381	In_Frame_Del	DEL	GAA	TCGA-CH-5791-01A-11D-1576-08	31237124	109001381	37362641	21	2208											
KCNQ3	3786	broad.mit.edu	37	chr8	133196585	133196585	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagatcctcaaagcaaactcGgctccaaagatgaaaatagc	17	6	7	11	1	1	3	1	1	0	2	4	3	3	3	2	1	3	2	2	1	6	1			TCGA-CH-5791-01A-11D-1576-08	TCGA-CH-5791-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f104f5f-f816-42cf-bdf5-65cbf9d7a5d4	8b462258-f66d-4893-a6f8-245278d1ce9d	g.chr8:133196585G>A	ENST00000388996.4	-	3	927	c.507C>T	c.(505-507)gcC>gcT	p.A169A	KCNQ3_ENST00000521134.1_Silent_p.A49A|KCNQ3_ENST00000519445.1_Silent_p.A169A	NM_004519.3	NP_004510.1	O43525	KCNQ3_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 3	169					axon guidance (GO:0007411)|membrane hyperpolarization (GO:0060081)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	axon initial segment (GO:0043194)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)	p.A169A(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	70	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)		Amitriptyline(DB00321)|Diclofenac(DB00586)|Ezogabine(DB04953)|Meclofenamic acid(DB00939)	AAGCAAACTCGGCTCCAAAGA	0.512																																						ENST00000388996.4																			1	Substitution - coding silent(1)	p.A169A(1)	prostate(1)	NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	70						c.(505-507)gcC>gcT		potassium voltage-gated channel, KQT-like subfamily, member 3							96	95	96					8																	133196585		2203	4300	6503	SO:0001819	synonymous_variant	3786				axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr8:133196585G>A	AB208890	CCDS34943.1, CCDS56554.1	8q24	2012-07-05			ENSG00000184156	ENSG00000184156		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6297	protein-coding gene	gene with protein product		602232		EBN2		9425900, 16382104	Standard	NM_004519		Approved	Kv7.3	uc003ytj.3	O43525	OTTHUMG00000137472	ENST00000388996.4:c.507C>T	8.37:g.133196585G>A						KCNQ3_ENST00000519445.1_Silent_p.A169A|KCNQ3_ENST00000521134.1_Silent_p.A49A	p.A169A	NM_004519.3	NP_004510.1	O43525	KCNQ3_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000311)		3	927	-	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		169					A2VCT8|B4DJY4|E7EQ89	Silent	SNP	ENST00000388996.4	37	c.507C>T	CCDS34943.1																																																																																				0.512	KCNQ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268621.2	NM_004519		49	80	0	0	0	0.864702	0	49	80					A	133196585	G	A	133196585	2	1	41	1	0	0	0	0	0	0	0	1	8084	1103	39	2		2	KCNQ3	8	133196585	Silent	SNP	G	TCGA-CH-5791-01A-11D-1576-08	24195204	133196585	13167437	22	2209											
FANCG	2189	broad.mit.edu	37	chr9	35076446	35076446	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cacctccccgtctgtaggcaCctgcttgctagtatgtgctt	5	13	9	14	1	1	0	0	0	1	0	2	0	2	0	4	1	3	6	4	1	3	5			TCGA-CH-5791-01A-11D-1576-08	TCGA-CH-5791-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f104f5f-f816-42cf-bdf5-65cbf9d7a5d4	8b462258-f66d-4893-a6f8-245278d1ce9d	g.chr9:35076446C>A	ENST00000378643.3	-	8	1550	c.1059G>T	c.(1057-1059)agG>agT	p.R353S	FANCG_ENST00000476212.1_Intron	NM_004629.1	NP_004620.1	O15287	FANCG_HUMAN	Fanconi anemia, complementation group G	353					cell cycle checkpoint (GO:0000075)|DNA repair (GO:0006281)|mitochondrion organization (GO:0007005)|ovarian follicle development (GO:0001541)|response to radiation (GO:0009314)|spermatid development (GO:0007286)	cytoplasm (GO:0005737)|Fanconi anaemia nuclear complex (GO:0043240)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	damaged DNA binding (GO:0003684)	p.R353S(1)		NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(7)|ovary(2)|prostate(3)|stomach(1)	28			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			TCTGTAGGCACCTGCTTGCTA	0.532			"Mis, N, F, S"			"AML, leukemia"		Involved in tolerance or repair of DNA crosslinks																														ENST00000378643.3			yes	Rec		Fanconi anaemia G	9	9p13	2189	"Mis, N, F, S"	"Fanconi anemia, complementation group G"			L		"AML, leukemia"			1	Substitution - Missense(1)	p.R353S(1)	prostate(1)	NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(7)|ovary(2)|prostate(3)|stomach(1)	28						c.(1057-1059)agG>agT	Involved in tolerance or repair of DNA crosslinks	Fanconi anemia, complementation group G							159	119	133					9																	35076446		2203	4300	6503	SO:0001583	missense	2189				cell cycle checkpoint|DNA repair|mitochondrion organization	mitochondrion|nucleoplasm	damaged DNA binding|protein binding	g.chr9:35076446C>A	AJ007669	CCDS6574.1	9p13	2014-09-17			ENSG00000221829	ENSG00000221829		"Fanconi anemia, complementation groups"	3588	protein-coding gene	gene with protein product	"DNA repair protein XRCC9", "X-ray repair, complementing defective, in Chinese hamster, 9", "X-ray repair complementing defective repair in Chinese hamster cells 9"	602956		XRCC9		9256465, 9382107	Standard	NM_004629		Approved	FAG	uc003zwb.1	O15287	OTTHUMG00000019850	ENST00000378643.3:c.1059G>T	9.37:g.35076446C>A	ENSP00000367910:p.Arg353Ser					FANCG_ENST00000476212.1_Intron	p.R353S	NM_004629.1	NP_004620.1	O15287	FANCG_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)		8	1550	-			353						Missense_Mutation	SNP	ENST00000378643.3	37	c.1059G>T	CCDS6574.1	.	.	.	.	.	.	.	.	.	.	C	13.34	2.207928	0.39003	.	.	ENSG00000221829	ENST00000378643;ENST00000543657	T	0.17054	2.3	5.05	3.92	0.45320	Tetratricopeptide-like helical (1);	.	.	.	.	T	0.33000	0.0848	L	0.56769	1.78	0.32284	N	0.567227	D	0.71674	0.998	D	0.78314	0.991	T	0.37220	-0.9715	9	0.51188	T	0.08	-7.1099	6.8382	0.23947	0.0:0.1063:0.0:0.8937	.	353	O15287	FANCG_HUMAN	S	353	ENSP00000367910:R353S	ENSP00000367910:R353S	R	-	3	2	FANCG	35066446	0.998000	0.40836	1.000000	0.80357	0.754000	0.42855	0.079000	0.14782	0.954000	0.37851	-0.471000	0.05019	AGG		0.532	FANCG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052269.1	NM_004629		9	105	1	0	0.000442599	0.335167	0.000501613	9	105					A	35076446	C	A	35076446	3	1	41	1	0	0	0	0	1	0	0	0	5668	506	18	5	837	5	FANCG	9	35076446	Missense_Mutation	SNP	C	TCGA-CH-5791-01A-11D-1576-08		35076446	106136985	23	2210											
SMC2	10592	broad.mit.edu	37	chr9	106889711	106889711	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agcttaaaattaaggaattaGaccacaacatcagcaaacat	20	8	5	8	0	1	1	1	0	0	1	1	2	1	2	1	1	4	2	1	1	7	3			TCGA-CH-5791-01A-11D-1576-08	TCGA-CH-5791-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f104f5f-f816-42cf-bdf5-65cbf9d7a5d4	8b462258-f66d-4893-a6f8-245278d1ce9d	g.chr9:106889711G>A	ENST00000286398.7	+	20	3028	c.2740G>A	c.(2740-2742)Gac>Aac	p.D914N	SMC2_ENST00000374787.3_Missense_Mutation_p.D914N|SMC2_ENST00000374793.3_Missense_Mutation_p.D914N|SMC2_ENST00000303219.8_Missense_Mutation_p.D914N	NM_001042551.1|NM_001265602.1|NM_006444.2	NP_001036016.1|NP_001252531.1|NP_006435.2	O95347	SMC2_HUMAN	structural maintenance of chromosomes 2	914					kinetochore organization (GO:0051383)|meiotic chromosome condensation (GO:0010032)|meiotic chromosome segregation (GO:0045132)|mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	condensed chromosome (GO:0000793)|condensin complex (GO:0000796)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein heterodimerization activity (GO:0046982)	p.D914N(2)		breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(14)|ovary(5)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	48						TAAGGAATTAGACCACAACAT	0.363																																						ENST00000286398.7																			2	Substitution - Missense(2)	p.D914N(2)	prostate(2)	breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(14)|ovary(5)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	48						c.(2740-2742)Gac>Aac		structural maintenance of chromosomes 2							141	135	137					9																	106889711		2203	4300	6503	SO:0001583	missense	10592				cell division|mitotic chromosome condensation|symbiosis, encompassing mutualism through parasitism	condensin complex|cytoplasm|nuclear chromosome	ATP binding|protein heterodimerization activity	g.chr9:106889711G>A	AF092563	CCDS35086.1	9q31.1	2008-05-14	2006-07-06	2006-07-06	ENSG00000136824	ENSG00000136824		"Structural maintenance of chromosomes proteins"	14011	protein-coding gene	gene with protein product		605576	"SMC2 (structural maintenance of chromosomes 2, yeast)-like 1", "SMC2 structural maintenance of chromosomes 2-like 1 (yeast)"	SMC2L1		9789013	Standard	NM_006444		Approved	hCAP-E, CAP-E	uc011lvl.2	O95347	OTTHUMG00000020401	ENST00000286398.7:c.2740G>A	9.37:g.106889711G>A	ENSP00000286398:p.Asp914Asn					SMC2_ENST00000303219.8_Missense_Mutation_p.D914N|SMC2_ENST00000374793.3_Missense_Mutation_p.D914N|SMC2_ENST00000374787.3_Missense_Mutation_p.D914N	p.D914N	NM_001042551.1|NM_001265602.1|NM_006444.2	NP_001036016.1|NP_001252531.1|NP_006435.2	O95347	SMC2_HUMAN			20	3028	+			914					Q6IEE0|Q9P1P2	Missense_Mutation	SNP	ENST00000286398.7	37	c.2740G>A	CCDS35086.1	.	.	.	.	.	.	.	.	.	.	G	14.53	2.563744	0.45694	.	.	ENSG00000136824	ENST00000286398;ENST00000374793;ENST00000303219;ENST00000374787	T;T;T;T	0.78126	-1.15;-1.15;-1.15;-1.15	5.84	4.93	0.64822	RecF/RecN/SMC (1);	0.092975	0.85682	D	0.000000	T	0.59662	0.2210	N	0.05124	-0.11	0.43994	D	0.996695	B	0.12013	0.005	B	0.15870	0.014	T	0.54057	-0.8350	10	0.25106	T	0.35	-9.8837	15.681	0.77367	0.0:0.1377:0.8623:0.0	.	914	O95347	SMC2_HUMAN	N	914	ENSP00000286398:D914N;ENSP00000363925:D914N;ENSP00000306152:D914N;ENSP00000363919:D914N	ENSP00000286398:D914N	D	+	1	0	SMC2	105929532	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.080000	0.94040	1.455000	0.47813	-0.181000	0.13052	GAC		0.363	SMC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053470.1			53	82	0	0	0	0.870114	0	53	82					A	106889711	G	A	106889711	3	1	41	1	0	0	0	0	1	0	0	0	14783	942	33	3	2814	3	SMC2	9	106889711	Missense_Mutation	SNP	G	TCGA-CH-5791-01A-11D-1576-08	71813265	106889711	34323720	24	2211											
UBAC1	10422	broad.mit.edu	37	chr9	138837764	138837764	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgaagggccttggtggctctGttctccggaaagcccatctc	6	11	12	12	1	3	1	0	1	3	0	5	2	3	2	3	4	1	2	3	4	2	2			TCGA-CH-5791-01A-11D-1576-08	TCGA-CH-5791-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f104f5f-f816-42cf-bdf5-65cbf9d7a5d4	8b462258-f66d-4893-a6f8-245278d1ce9d	g.chr9:138837764G>C	ENST00000371756.3	-	6	841	c.624C>G	c.(622-624)aaC>aaG	p.N208K	UBAC1_ENST00000465873.1_5'Flank	NM_016172.2	NP_057256.2	Q9BSL1	UBAC1_HUMAN	UBA domain containing 1	208	UBA 1. {ECO:0000255|PROSITE- ProRule:PRU00212}.				protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)		p.N208K(1)		NS(1)|biliary_tract(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(2)|lung(6)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	25		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;1.1e-06)|Epithelial(140;7.79e-06)		TGGTGGCTCTGTTCTCCGGAA	0.662																																					NSCLC(78;973 1398 27381 29552 42415)	ENST00000371756.3																			1	Substitution - Missense(1)	p.N208K(1)	prostate(1)	NS(1)|biliary_tract(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(2)|lung(6)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	25						c.(622-624)aaC>aaG		UBA domain containing 1							56	52	53					9																	138837764		2203	4299	6502	SO:0001583	missense	10422					Golgi apparatus|plasma membrane	protein binding	g.chr9:138837764G>C	AF176796	CCDS35177.1	9q34.3	2008-02-05	2007-04-20	2007-04-20	ENSG00000130560	ENSG00000130560			30221	protein-coding gene	gene with protein product		608129	"ubiquitin associated domain containing 1"	UBADC1		10857748, 8619474	Standard	NM_016172		Approved	GBDR1	uc004cgt.3	Q9BSL1	OTTHUMG00000020920	ENST00000371756.3:c.624C>G	9.37:g.138837764G>C	ENSP00000360821:p.Asn208Lys						p.N208K	NM_016172.2	NP_057256.2	Q9BSL1	UBAC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.1e-06)|Epithelial(140;7.79e-06)	6	841	-		Myeloproliferative disorder(178;0.0511)	208			UBA 1.		O75500|Q9UMW7	Missense_Mutation	SNP	ENST00000371756.3	37	c.624C>G	CCDS35177.1	.	.	.	.	.	.	.	.	.	.	G	6.623	0.483350	0.12581	.	.	ENSG00000130560	ENST00000371756	T	0.23754	1.89	5.36	3.48	0.39840	Ubiquitin-associated/translation elongation factor EF1B, N-terminal, eukaryote (2);Ubiquitin-associated/translation elongation factor EF1B, N-terminal (1);UBA-like (1);	0.275451	0.50627	D	0.000101	T	0.20455	0.0492	L	0.54965	1.715	0.26792	N	0.969386	B	0.18968	0.032	B	0.24394	0.053	T	0.31364	-0.9946	10	0.06099	T	0.92	-16.5808	9.7491	0.40464	0.0738:0.0:0.7876:0.1386	.	208	Q9BSL1	UBAC1_HUMAN	K	208	ENSP00000360821:N208K	ENSP00000360821:N208K	N	-	3	2	UBAC1	137977585	1.000000	0.71417	0.886000	0.34754	0.753000	0.42808	3.136000	0.50554	1.239000	0.43787	-0.314000	0.08810	AAC		0.662	UBAC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055034.1	NM_016172		14	46	0	0	0	0.457914	0	14	46					C	138837764	G	C	138837764	3	2	41	1	0	0	0	0	1	0	0	0	16831	1368	48	5	613	5	UBAC1	9	138837764	Missense_Mutation	SNP	G	TCGA-CH-5791-01A-11D-1576-08	31948053	138837764	2375667	25	2212											
PTEN	5728	broad.mit.edu	37	chr10	89690802	89690802	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acttttaaacttttcttttaGttgtgctgaaagacattatg	11	19	6	5	0	1	2	0	1	1	1	1	2	1	2	0	0	2	2	0	0	5	8			TCGA-CH-5791-01A-11D-1576-08	TCGA-CH-5791-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f104f5f-f816-42cf-bdf5-65cbf9d7a5d4	8b462258-f66d-4893-a6f8-245278d1ce9d	g.chr10:89690802G>A	ENST00000371953.3	+	4	1566		c.e4-1			NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog						activation of mitotic anaphase-promoting complex activity (GO:0007092)|aging (GO:0007568)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|brain morphogenesis (GO:0048854)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle tissue development (GO:0048738)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|central nervous system myelin maintenance (GO:0032286)|central nervous system neuron axonogenesis (GO:0021955)|dendritic spine morphogenesis (GO:0060997)|dentate gyrus development (GO:0021542)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|innate immune response (GO:0045087)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|learning or memory (GO:0007611)|locomotor rhythm (GO:0045475)|locomotory behavior (GO:0007626)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|male mating behavior (GO:0060179)|maternal behavior (GO:0042711)|memory (GO:0007613)|multicellular organismal response to stress (GO:0033555)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell aging (GO:0090344)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031658)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myelination (GO:0031642)|negative regulation of organ growth (GO:0046621)|negative regulation of phagocytosis (GO:0050765)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of ribosome biogenesis (GO:0090071)|negative regulation of synaptic vesicle clustering (GO:2000808)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell proliferation (GO:0008284)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|postsynaptic density assembly (GO:0097107)|prepulse inhibition (GO:0060134)|presynaptic membrane assembly (GO:0097105)|prostate gland growth (GO:0060736)|protein dephosphorylation (GO:0006470)|protein kinase B signaling (GO:0043491)|protein stabilization (GO:0050821)|regulation of B cell apoptotic process (GO:0002902)|regulation of cellular component size (GO:0032535)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of neuron projection development (GO:0010975)|regulation of protein stability (GO:0031647)|response to arsenic-containing substance (GO:0046685)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse maturation (GO:0060074)|T cell receptor signaling pathway (GO:0050852)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|myelin sheath adaxonal region (GO:0035749)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)	anaphase-promoting complex binding (GO:0010997)|enzyme binding (GO:0019899)|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity (GO:0051717)|lipid binding (GO:0008289)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity (GO:0051800)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.0?(37)|p.?(9)|p.R55fs*1(5)|p.L70fs*7(2)|p.Y27fs*1(2)|p.F56fs*2(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		TTTTCTTTTAGTTGTGCTGAA	0.303		31	"D, Mis, N, F, S"		"glioma,  prostate, endometrial"	"harmartoma, glioma,  prostate, endometrial"			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																												ENST00000371953.3		31	yes	Rec	yes	"Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"	10	10q23.3	5728	"D, Mis, N, F, S"	phosphatase and tensin homolog gene			"L, E, M, O"		"harmartoma, glioma,  prostate, endometrial"	"glioma,  prostate, endometrial"		56	Whole gene deletion(37)|Deletion - Frameshift(10)|Unknown(9)	p.0?(37)|p.?(9)|p.R55fs*1(5)|p.L70fs*7(2)|p.Y27fs*1(2)|p.F56fs*2(1)	prostate(17)|central_nervous_system(13)|skin(6)|lung(5)|breast(5)|haematopoietic_and_lymphoid_tissue(4)|ovary(3)|soft_tissue(1)|endometrium(1)|urinary_tract(1)	NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771	GRCh37	CS002683	PTEN	S		c.e4-1		phosphatase and tensin homolog							70	66	67					10																	89690802		2202	4293	6495	SO:0001630	splice_region_variant	5728	Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	Familial Cancer Database	Incl.: Encephalocraniocutaneous Lipomatosis, ECCL, Proteus-like s.;incl.: Juvenile Polyposis of the Stomach;HMPS1, Colorectal Adenoma Carcinoma syndrome, CRAC, CRAC1;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;subset of PTEN-Hamartoma Tumor Syndrome; incl.: Ruvalcaba-Myhre-Smith s.	activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr10:89690802G>A	U92436	CCDS31238.1	10q23	2014-09-17	2008-07-31		ENSG00000171862	ENSG00000171862		"Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"	9588	protein-coding gene	gene with protein product	"mutated in multiple advanced cancers 1"	601728		BZS, MHAM		9090379	Standard	NM_000314		Approved	MMAC1, TEP1, PTEN1	uc001kfb.3	P60484	OTTHUMG00000018688	ENST00000371953.3:c.210-1G>A	10.37:g.89690802G>A		HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)						NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)	4	1566	+		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)						B2R904|F2YHV0|O00633|O02679|Q6ICT7	Splice_Site	SNP	ENST00000371953.3	37		CCDS31238.1	.	.	.	.	.	.	.	.	.	.	G	24.1	4.493411	0.84962	.	.	ENSG00000171862	ENST00000371953	.	.	.	5.62	5.62	0.85841	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.0185	0.97487	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PTEN	89680782	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	9.332000	0.96446	2.809000	0.96659	0.467000	0.42956	.		0.303	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1	NM_000314	Intron	32	23	0	0	0	0.769981	0	32	23					A	89690802	G	A	89690802	5	1	41	1	0	0	0	0	0	0	1	0	12738	1043	36	3	223	3	PTEN	10	89690802	Splice_Site	SNP	G	TCGA-CH-5791-01A-11D-1576-08		89690802	45843945	26	2213											
CRTAC1	55118	broad.mit.edu	37	chr10	99642555	99642555	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caactcacccatgcaatggcCattttcctgctgggagaatc	10	10	8	13	0	1	1	1	0	0	1	3	2	2	1	3	2	3	2	3	2	3	2			TCGA-CH-5791-01A-11D-1576-08	TCGA-CH-5791-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f104f5f-f816-42cf-bdf5-65cbf9d7a5d4	8b462258-f66d-4893-a6f8-245278d1ce9d	g.chr10:99642555C>A	ENST00000370597.3	-	13	2018	c.1663G>T	c.(1663-1665)Ggc>Tgc	p.G555C	CRTAC1_ENST00000370591.2_Missense_Mutation_p.G555C|CRTAC1_ENST00000298819.4_Intron|CRTAC1_ENST00000468549.1_5'UTR	NM_018058.6	NP_060528.3	Q9NQ79	CRAC1_HUMAN	cartilage acidic protein 1	555						extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)	p.G555C(1)		autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(6)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	35		Colorectal(252;0.24)		Epithelial(162;2.18e-10)|all cancers(201;3.27e-09)		ATGCAATGGCCATTTTCCTGC	0.577																																						ENST00000370597.3																			1	Substitution - Missense(1)	p.G555C(1)	prostate(1)	autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(6)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	35						c.(1663-1665)Ggc>Tgc		cartilage acidic protein 1							123	93	103					10																	99642555		2203	4300	6503	SO:0001583	missense	55118					proteinaceous extracellular matrix	calcium ion binding	g.chr10:99642555C>A	AJ276171	CCDS31266.1, CCDS55723.1	10q22	2007-12-03			ENSG00000095713	ENSG00000095713			14882	protein-coding gene	gene with protein product		606276				11139377	Standard	NM_018058		Approved	FLJ10320, CEP-68, ASPIC1	uc001kou.2	Q9NQ79	OTTHUMG00000018871	ENST00000370597.3:c.1663G>T	10.37:g.99642555C>A	ENSP00000359629:p.Gly555Cys					CRTAC1_ENST00000298819.4_Intron|CRTAC1_ENST00000468549.1_5'UTR|CRTAC1_ENST00000370591.2_Missense_Mutation_p.G555C	p.G555C	NM_018058.6	NP_060528.3	Q9NQ79	CRAC1_HUMAN		Epithelial(162;2.18e-10)|all cancers(201;3.27e-09)	13	2018	-		Colorectal(252;0.24)	555					B1ALN4|Q5T4F8|Q8N4H6|Q8TE52|Q9NQ78|Q9NQ80|Q9NW46	Missense_Mutation	SNP	ENST00000370597.3	37	c.1663G>T	CCDS31266.1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.433195	0.83776	.	.	ENSG00000095713	ENST00000370597;ENST00000309155;ENST00000370591	D;D;D	0.88354	-1.58;-2.37;-2.37	5.05	5.05	0.67936	.	0.000000	0.85682	D	0.000000	D	0.93194	0.7832	L	0.58810	1.83	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.998	D	0.93412	0.6769	10	0.54805	T	0.06	-31.5193	17.1667	0.86818	0.0:1.0:0.0:0.0	.	555;555	Q9NQ79-2;Q9NQ79	.;CRAC1_HUMAN	C	555;547;555	ENSP00000359629:G555C;ENSP00000310810:G547C;ENSP00000359623:G555C	ENSP00000310810:G547C	G	-	1	0	CRTAC1	99632545	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	6.773000	0.75006	2.356000	0.79943	0.462000	0.41574	GGC		0.577	CRTAC1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000049754.1	NM_018058		17	33	1	0	0.000958276	0.557998	0.00106824	17	33					A	99642555	C	A	99642555	3	1	41	1	0	0	0	0	1	0	0	0	3896	594	21	5	334	5	CRTAC1	10	99642555	Missense_Mutation	SNP	C	TCGA-CH-5791-01A-11D-1576-08	9951753	99642555	35892192	27	2214											
ENTPD7	57089	broad.mit.edu	37	chr10	101455823	101455823	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tttctgggtttcggaggcaaCtttgcccggcagcgctacga	6	11	13	11	4	1	0	0	0	1	0	2	2	1	1	1	4	4	4	1	4	2	4			TCGA-CH-5791-01A-11D-1576-08	TCGA-CH-5791-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f104f5f-f816-42cf-bdf5-65cbf9d7a5d4	8b462258-f66d-4893-a6f8-245278d1ce9d	g.chr10:101455823C>T	ENST00000370489.4	+	9	1132	c.954C>T	c.(952-954)aaC>aaT	p.N318N		NM_020354.3	NP_065087.1	Q9NQZ7	ENTP7_HUMAN	ectonucleoside triphosphate diphosphohydrolase 7	318						cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)	p.N318N(1)		breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|urinary_tract(1)	18		Colorectal(252;0.234)		Epithelial(162;4.72e-10)|all cancers(201;3.75e-08)		TCGGAGGCAACTTTGCCCGGC	0.453																																						ENST00000370489.4																			1	Substitution - coding silent(1)	p.N318N(1)	prostate(1)	breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|urinary_tract(1)	18						c.(952-954)aaC>aaT		ectonucleoside triphosphate diphosphohydrolase 7							120	111	114					10																	101455823		2203	4300	6503	SO:0001819	synonymous_variant	57089					cytoplasmic vesicle membrane|integral to membrane	hydrolase activity	g.chr10:101455823C>T	AF269255	CCDS7480.1	10q23-q24	2004-07-01			ENSG00000198018	ENSG00000198018			19745	protein-coding gene	gene with protein product						11278936	Standard	NM_020354		Approved	LALP1, FLJ30978	uc001kqa.4	Q9NQZ7	OTTHUMG00000018888	ENST00000370489.4:c.954C>T	10.37:g.101455823C>T							p.N318N	NM_020354.3	NP_065087.1	Q9NQZ7	ENTP7_HUMAN		Epithelial(162;4.72e-10)|all cancers(201;3.75e-08)	9	1132	+		Colorectal(252;0.234)	318					B2RB83|B3KP21|D3DR64	Silent	SNP	ENST00000370489.4	37	c.954C>T	CCDS7480.1																																																																																				0.453	ENTPD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049809.2	NM_020354		11	169	0	0	0	0.411799	0	11	169					T	101455823	C	T	101455823	2	4	41	1	0	0	0	0	0	0	0	1	5144	564	20	3		3	ENTPD7	10	101455823	Silent	SNP	C	TCGA-CH-5791-01A-11D-1576-08	1813268	101455823	34078924	28	2215											
TLX1	3195	broad.mit.edu	37	chr10	102896459	102896459	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccggtgcagacggcagactgCggaggaacgggaggccgaga	10	2	19	10	5	0	3	0	0	0	3	0	7	0	6	2	6	3	2	2	6	1	0			TCGA-CH-5791-01A-11D-1576-08	TCGA-CH-5791-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f104f5f-f816-42cf-bdf5-65cbf9d7a5d4	8b462258-f66d-4893-a6f8-245278d1ce9d	g.chr10:102896459C>G	ENST00000370196.6	+	3	2824	c.782C>G	c.(781-783)gCg>gGg	p.A261G	TLX1_ENST00000467928.2_3'UTR|RP11-31L23.3_ENST00000411459.1_RNA			P31314	TLX1_HUMAN	T-cell leukemia homeobox 1	261					cell fate commitment (GO:0045165)|central nervous system development (GO:0007417)|neuron differentiation (GO:0030182)|organ formation (GO:0048645)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|spleen development (GO:0048536)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)	p.A261G(1)		breast(1)|upper_aerodigestive_tract(1)	2				Epithelial(162;6.35e-09)|all cancers(201;3.21e-07)		CGGCAGACTGCGGAGGAACGG	0.652			T	"TRB@, TRD@"	T-ALL																																	ENST00000370196.6				Dom	yes		10	10q24	3195	T	" T-cell leukemia, homeobox 1 (HOX11)"			L	"TRB@, TRD@"		T-ALL		1	Substitution - Missense(1)	p.A261G(1)	prostate(1)	breast(1)|upper_aerodigestive_tract(1)	2						c.(781-783)gCg>gGg		T-cell leukemia homeobox 1							45	49	48					10																	102896459		2202	4300	6502	SO:0001583	missense	3195					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr10:102896459C>G	M62626	CCDS7510.1, CCDS55725.1	10q24.32	2011-06-20	2005-12-22	2002-05-31	ENSG00000107807	ENSG00000107807		"Homeoboxes / ANTP class : NKL subclass"	5056	protein-coding gene	gene with protein product	"Homeo box-11 (T-cell leukemia-3 associated breakpoint, homologous to Drosophila Notch)", "homeo box 11 (T-cell lymphoma 3-associated breakpoint)"	186770	"homeo box 11 (T-cell lymphoma 3-associated breakpoint)", "T-cell leukemia, homeobox 1"	TCL3, HOX11		1676542, 1973146	Standard	NM_005521		Approved		uc001ksw.3	P31314	OTTHUMG00000019341	ENST00000370196.6:c.782C>G	10.37:g.102896459C>G	ENSP00000359215:p.Ala261Gly					RP11-31L23.3_ENST00000411459.1_RNA|TLX1_ENST00000467928.2_3'UTR	p.A261G			P31314	TLX1_HUMAN		Epithelial(162;6.35e-09)|all cancers(201;3.21e-07)	3	2824	+			261					A1L4G3|O75699|Q5VXP2|Q9HCA0|Q9UD59	Missense_Mutation	SNP	ENST00000370196.6	37	c.782C>G	CCDS7510.1	.	.	.	.	.	.	.	.	.	.	C	32	5.163158	0.94727	.	.	ENSG00000107807	ENST00000370196	D	0.91068	-2.78	4.52	4.52	0.55395	Homeobox (1);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	D	0.95146	0.8427	M	0.81497	2.545	0.80722	D	1	D	0.76494	0.999	D	0.71184	0.972	D	0.95312	0.8413	10	0.51188	T	0.08	.	17.6	0.88023	0.0:1.0:0.0:0.0	.	261	P31314	TLX1_HUMAN	G	261	ENSP00000359215:A261G	ENSP00000359215:A261G	A	+	2	0	TLX1	102886449	1.000000	0.71417	0.996000	0.52242	0.825000	0.46686	7.272000	0.78516	2.219000	0.72066	0.462000	0.41574	GCG		0.652	TLX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051193.3	NM_005521		5	64	0	0	0	0.184627	0	5	64					G	102896459	C	G	102896459	3	3	41	1	0	0	0	0	1	0	0	0	15956	768	27	5	792	5	TLX1	10	102896459	Missense_Mutation	SNP	C	TCGA-CH-5791-01A-11D-1576-08	1440636	102896459	32638288	29	2216											
NAV2	89797	broad.mit.edu	37	chr11	20101630	20101630	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaaacggcactgcccagtctGcagacctccgcatccgcagg	9	5	11	16	3	1	1	0	0	1	1	3	2	3	1	4	2	3	4	4	2	1	0			TCGA-CH-5791-01A-11D-1576-08	TCGA-CH-5791-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f104f5f-f816-42cf-bdf5-65cbf9d7a5d4	8b462258-f66d-4893-a6f8-245278d1ce9d	g.chr11:20101630G>T	ENST00000396087.3	+	27	5467	c.5368G>T	c.(5368-5370)Gca>Tca	p.A1790S	NAV2_ENST00000360655.4_Missense_Mutation_p.A1670S|NAV2_ENST00000311043.8_Missense_Mutation_p.A798S|NAV2_ENST00000540292.1_Missense_Mutation_p.A1721S|NAV2_ENST00000349880.4_Missense_Mutation_p.A1734S|NAV2_ENST00000396085.1_Missense_Mutation_p.A1734S|NAV2_ENST00000533917.1_Missense_Mutation_p.A798S|NAV2_ENST00000527559.2_Missense_Mutation_p.A1719S	NM_001244963.1	NP_001231892.1	Q8IVL1	NAV2_HUMAN	neuron navigator 2	1790					glossopharyngeal nerve development (GO:0021563)|locomotory behavior (GO:0007626)|optic nerve development (GO:0021554)|regulation of systemic arterial blood pressure by baroreceptor feedback (GO:0003025)|sensory perception of smell (GO:0007608)|sensory perception of sound (GO:0007605)|vagus nerve development (GO:0021564)	interstitial matrix (GO:0005614)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|heparin binding (GO:0008201)	p.A1790S(1)		NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						TGCCCAGTCTGCAGACCTCCG	0.562																																						ENST00000396085.1																			1	Substitution - Missense(1)	p.A1790S(1)	prostate(1)	NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						c.(5200-5202)Gca>Tca		neuron navigator 2							51	49	49					11																	20101630		2203	4300	6503	SO:0001583	missense	89797					nucleus	ATP binding|helicase activity	g.chr11:20101630G>T	AB037840	CCDS7850.1, CCDS7851.2, CCDS44552.1, CCDS53612.1, CCDS58126.1	11p15.1	2008-07-18			ENSG00000166833	ENSG00000166833	3.6.1.1		15997	protein-coding gene	gene with protein product	"pore membrane and/or filament interacting like protein 2", "retinoic acid inducible gene in neuroblastoma 1", "helicase, APC down-regulated 1"	607026				12079279, 12062803	Standard	NM_145117		Approved	FLJ10633, FLJ11030, HELAD1, KIAA1419, POMFIL2, RAINB1, FLJ23707	uc010rdm.2	Q8IVL1	OTTHUMG00000151837	ENST00000396087.3:c.5368G>T	11.37:g.20101630G>T	ENSP00000379396:p.Ala1790Ser					NAV2_ENST00000396087.3_Missense_Mutation_p.A1790S|NAV2_ENST00000540292.1_Missense_Mutation_p.A1721S|NAV2_ENST00000311043.8_Missense_Mutation_p.A798S|NAV2_ENST00000360655.4_Missense_Mutation_p.A1670S|NAV2_ENST00000533917.1_Missense_Mutation_p.A798S|NAV2_ENST00000527559.2_Missense_Mutation_p.A1719S|NAV2_ENST00000349880.4_Missense_Mutation_p.A1734S	p.A1734S	NM_182964.5	NP_892009.3	Q8IVL1	NAV2_HUMAN			25	5561	+			1790					A6NEC1|Q8IVK3|Q8IVK4|Q8IVK5|Q8IVK6|Q8IVK7|Q8IVK8|Q8NHC9|Q8NHD0|Q8TDE9|Q8TDF0|Q8TEB3|Q96B30|Q9NUZ6|Q9NVM7|Q9P2C8	Missense_Mutation	SNP	ENST00000396087.3	37	c.5200G>T	CCDS58126.1	.	.	.	.	.	.	.	.	.	.	G	11.34	1.611032	0.28712	.	.	ENSG00000166833	ENST00000360655;ENST00000396085;ENST00000349880;ENST00000396087;ENST00000527559;ENST00000540292;ENST00000533917;ENST00000525322;ENST00000311043;ENST00000536595	D;D;D;D;D;D;D;D;D	0.93712	-3.27;-3.27;-3.27;-3.27;-3.27;-3.27;-3.27;-3.27;-3.27	5.39	-2.6	0.06190	.	0.657161	0.14629	N	0.307960	D	0.82742	0.5103	N	0.24115	0.695	0.09310	N	0.999999	B;B;B;B;B;B	0.27068	0.025;0.0;0.003;0.167;0.004;0.034	B;B;B;B;B;B	0.24394	0.013;0.001;0.004;0.053;0.007;0.036	T	0.70483	-0.4859	9	.	.	.	.	4.2711	0.10787	0.4881:0.0956:0.3197:0.0967	.	1734;1790;798;783;1734;1670	A7E2D6;Q8IVL1;Q8IVL1-5;E9PNV5;Q8IVL1-3;Q8IVL1-4	.;NAV2_HUMAN;.;.;.;.	S	1670;1734;1734;1790;1719;1721;798;783;798;783	ENSP00000353871:A1670S;ENSP00000379394:A1734S;ENSP00000309577:A1734S;ENSP00000379396:A1790S;ENSP00000435395:A1719S;ENSP00000443489:A1721S;ENSP00000437316:A798S;ENSP00000437136:A783S;ENSP00000312169:A798S	.	A	+	1	0	NAV2	20058206	0.000000	0.05858	0.024000	0.17045	0.697000	0.40408	-0.864000	0.04254	-0.532000	0.06332	-0.262000	0.10625	GCA		0.562	NAV2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324112.1	NM_145117		13	39	1	0	1.5842e-08	0.435327	1.88992e-08	13	39					T	20101630	G	T	20101630	3	4	41	1	0	0	0	0	1	0	0	0	10184	1319	46	5	5407	5	NAV2	11	20101630	Missense_Mutation	SNP	G	TCGA-CH-5791-01A-11D-1576-08		20101630	114904886	30	2217											
TCN1	6947	broad.mit.edu	37	chr11	59633903	59633903	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcttggaataaaagaaaacAgtaagagccccactaggggc	16	5	12	8	0	0	2	0	0	0	2	0	3	0	3	2	4	2	2	2	4	7	4			TCGA-CH-5791-01A-11D-1576-08	TCGA-CH-5791-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f104f5f-f816-42cf-bdf5-65cbf9d7a5d4	8b462258-f66d-4893-a6f8-245278d1ce9d	g.chr11:59633903A>G	ENST00000257264.3	-	1	145	c.41T>C	c.(40-42)cTg>cCg	p.L14P	TCN1_ENST00000532419.1_5'UTR	NM_001062.3	NP_001053.2	P20061	TCO1_HUMAN	transcobalamin I (vitamin B12 binding protein, R binder family)	14					cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|cobalt ion transport (GO:0006824)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	cobalamin binding (GO:0031419)	p.L14P(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(15)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29		all_epithelial(135;0.198)			Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	AAAAGAAAACAGTAAGAGCCC	0.413																																						ENST00000257264.3																			1	Substitution - Missense(1)	p.L14P(1)	prostate(1)	breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(15)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29						c.(40-42)cTg>cCg		transcobalamin I (vitamin B12 binding protein, R binder family)	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)						98	109	105					11																	59633903		2201	4295	6496	SO:0001583	missense	6947				cobalamin metabolic process|cobalamin transport|cobalt ion transport	extracellular region	cobalamin binding	g.chr11:59633903A>G	J05068	CCDS7978.1	11q11-q12	2008-07-21			ENSG00000134827	ENSG00000134827			11652	protein-coding gene	gene with protein product	"haptocorin", "haptocorrin"	189905					Standard	NM_001062		Approved	TCI, TC1	uc001noj.2	P20061	OTTHUMG00000167400	ENST00000257264.3:c.41T>C	11.37:g.59633903A>G	ENSP00000257264:p.Leu14Pro					TCN1_ENST00000532419.1_5'UTR	p.L14P	NM_001062.3	NP_001053.2	P20061	TCO1_HUMAN			1	145	-		all_epithelial(135;0.198)	14					A8KAC5|Q8WV77	Missense_Mutation	SNP	ENST00000257264.3	37	c.41T>C	CCDS7978.1	.	.	.	.	.	.	.	.	.	.	A	10.32	1.317073	0.23908	.	.	ENSG00000134827	ENST00000257264	T	0.38401	1.14	4.95	3.82	0.43975	.	0.273612	0.24393	N	0.038905	T	0.35189	0.0923	L	0.60455	1.87	0.09310	N	0.999998	B	0.28552	0.215	B	0.33196	0.159	T	0.36817	-0.9732	10	0.87932	D	0	.	7.6952	0.28590	0.9025:0.0:0.0975:0.0	.	14	P20061	TCO1_HUMAN	P	14	ENSP00000257264:L14P	ENSP00000257264:L14P	L	-	2	0	TCN1	59390479	0.010000	0.17322	0.082000	0.20525	0.054000	0.15201	2.748000	0.47483	0.835000	0.34877	0.459000	0.35465	CTG		0.413	TCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394503.1	NM_001062		49	109	0	0	0	0.870114	0	49	109					G	59633903	A	G	59633903	3	3	41	1	0	0	0	0	1	0	0	0	15703	188	7	4	1296	4	TCN1	11	59633903	Missense_Mutation	SNP	A	TCGA-CH-5791-01A-11D-1576-08	39532273	59633903	75372613	31	2218											
EML3	256364	broad.mit.edu	37	chr11	62378665	62378665	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ttcagattgggtcccgctagGctcttcgctggccccctgag	4	11	12	14	2	2	2	1	1	1	1	4	2	3	2	3	3	0	3	3	3	1	4			TCGA-CH-5791-01A-11D-1576-08	TCGA-CH-5791-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f104f5f-f816-42cf-bdf5-65cbf9d7a5d4	8b462258-f66d-4893-a6f8-245278d1ce9d	g.chr11:62378665G>A	ENST00000394773.2	-	3	653	c.346C>T	c.(346-348)Cct>Tct	p.P116S	EML3_ENST00000278845.4_Missense_Mutation_p.P117S|EML3_ENST00000494176.2_Missense_Mutation_p.P88S|EML3_ENST00000529309.1_Missense_Mutation_p.P116S|ROM1_ENST00000534093.1_5'Flank|EML3_ENST00000531557.1_5'Flank|ROM1_ENST00000278833.3_5'Flank	NM_153265.2	NP_694997.2	Q32P44	EMAL3_HUMAN	echinoderm microtubule associated protein like 3	116						cytoplasm (GO:0005737)|microtubule (GO:0005874)		p.P116S(1)		biliary_tract(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						GTCCCGCTAGGCTCTTCGCTG	0.697																																						ENST00000394773.2																			1	Substitution - Missense(1)	p.P116S(1)	prostate(1)	biliary_tract(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						c.(346-348)Cct>Tct		echinoderm microtubule associated protein like 3							11	14	13					11																	62378665		2170	4262	6432	SO:0001583	missense	256364					cytoplasm|microtubule	protein binding	g.chr11:62378665G>A	AK093146	CCDS8023.2	11q12.3	2013-01-10			ENSG00000149499	ENSG00000149499		"WD repeat domain containing"	26666	protein-coding gene	gene with protein product						15225882, 14744259	Standard	NM_153265		Approved	FLJ35827, ELP95	uc001ntu.1	Q32P44	OTTHUMG00000149817	ENST00000394773.2:c.346C>T	11.37:g.62378665G>A	ENSP00000378254:p.Pro116Ser					EML3_ENST00000278845.4_Missense_Mutation_p.P117S|EML3_ENST00000494176.2_Missense_Mutation_p.P88S|EML3_ENST00000529309.1_Missense_Mutation_p.P116S	p.P116S	NM_153265.2	NP_694997.2	Q32P44	EMAL3_HUMAN			3	653	-			116					Q6ZQW7|Q8NA55	Missense_Mutation	SNP	ENST00000394773.2	37	c.346C>T	CCDS8023.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.56|16.56	3.156976|3.156976	0.57259|0.57259	.|.	.|.	ENSG00000149499|ENSG00000149499	ENST00000394776|ENST00000394773;ENST00000278845;ENST00000494176;ENST00000529309;ENST00000466886;ENST00000466671;ENST00000419857	.|T;T;T;T	.|0.29142	.|1.78;1.74;1.58;1.68	5.05|5.05	5.05|5.05	0.67936|0.67936	.|.	.|0.832619	.|0.10633	.|N	.|0.651923	T|T	0.42177|0.42177	0.1191|0.1191	N|N	0.24115|0.24115	0.695|0.695	0.39196|0.39196	D|D	0.963067|0.963067	.|P;B;D;P	.|0.63880	.|0.827;0.427;0.993;0.827	.|B;B;D;B	.|0.70227	.|0.439;0.133;0.968;0.439	T|T	0.13019|0.13019	-1.0525|-1.0525	5|10	.|0.36615	.|T	.|0.2	-17.4407|-17.4407	14.2488|14.2488	0.66007|0.66007	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|116;116;117;88	.|Q32P44-2;Q32P44;B7WPE2;G3V1D0	.|.;EMAL3_HUMAN;.;.	V|S	110|116;117;88;116;87;88;87	.|ENSP00000378254:P116S;ENSP00000278845:P117S;ENSP00000435064:P88S;ENSP00000434513:P116S	.|ENSP00000278845:P117S	A|P	-|-	2|1	0|0	EML3|EML3	62135241|62135241	0.960000|0.960000	0.32886|0.32886	0.872000|0.872000	0.34217|0.34217	0.242000|0.242000	0.25591|0.25591	1.693000|1.693000	0.37742|0.37742	2.515000|2.515000	0.84797|0.84797	0.462000|0.462000	0.41574|0.41574	GCC|CCT		0.697	EML3-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000313432.1	NM_153265		4	30	0	0	0	0.150653	0	4	30					A	62378665	G	A	62378665	3	1	41	1	0	0	0	0	1	0	0	0	5098	1203	42	3	2424	3	EML3	11	62378665	Missense_Mutation	SNP	G	TCGA-CH-5791-01A-11D-1576-08	2744762	62378665	72627851	32	2219											
MAML2	84441	broad.mit.edu	37	chr11	95712225	95712225	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	agcatcactgtttagggcagGgcccatgttatcattttgtt	8	15	10	8	0	2	0	2	0	0	0	2	0	2	0	1	2	1	5	1	2	2	6			TCGA-CH-5791-01A-11D-1576-08	TCGA-CH-5791-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f104f5f-f816-42cf-bdf5-65cbf9d7a5d4	8b462258-f66d-4893-a6f8-245278d1ce9d	g.chr11:95712225G>A	ENST00000524717.1	-	5	4642	c.3358C>T	c.(3358-3360)Cct>Tct	p.P1120S		NM_032427.1	NP_115803.1	Q8IZL2	MAML2_HUMAN	mastermind-like 2 (Drosophila)	1120					gene expression (GO:0010467)|Notch signaling pathway (GO:0007219)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription initiation from RNA polymerase II promoter (GO:0006367)	Golgi apparatus (GO:0005794)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)	p.P1120S(1)	CRTC3/MAML2(26)|CRTC1/MAML2(516)	breast(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	43		Acute lymphoblastic leukemia(157;2.63e-05)|all_hematologic(158;0.00837)				TTTAGGGCAGGGCCCATGTTA	0.423			T	"MECT1, CRTC3"	salivary gland mucoepidermoid																																	ENST00000524717.1				Dom	yes		11	11q22-q23	84441	T	mastermind-like 2 (Drosophila)			E	"MECT1, CRTC3"		salivary gland mucoepidermoid	CRTC3/MAML2(26)|CRTC1/MAML2(516)	1	Substitution - Missense(1)	p.P1120S(1)	prostate(1)	breast(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	43						c.(3358-3360)Cct>Tct		mastermind-like 2 (Drosophila)							133	128	130					11																	95712225		1896	4121	6017	SO:0001583	missense	84441				Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity	g.chr11:95712225G>A	AB058722	CCDS44714.1	11q	2008-02-05	2001-11-28		ENSG00000184384	ENSG00000184384			16259	protein-coding gene	gene with protein product		607537	"mastermind (Drosophila)-like 2"			12370315, 12386158	Standard	NM_032427		Approved	KIAA1819, MAM3	uc001pfw.1	Q8IZL2	OTTHUMG00000167677	ENST00000524717.1:c.3358C>T	11.37:g.95712225G>A	ENSP00000434552:p.Pro1120Ser						p.P1120S	NM_032427.1	NP_115803.1	Q8IZL2	MAML2_HUMAN			5	4642	-		Acute lymphoblastic leukemia(157;2.63e-05)|all_hematologic(158;0.00837)	1120					A7MD26|Q6AI23|Q6Y3A3|Q8IUL3|Q96JK6	Missense_Mutation	SNP	ENST00000524717.1	37	c.3358C>T	CCDS44714.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.270939	0.80469	.	.	ENSG00000184384	ENST00000524717;ENST00000440572	T;T	0.52754	0.65;0.65	5.72	5.72	0.89469	.	0.000000	0.56097	D	0.000023	T	0.65270	0.2675	L	0.54323	1.7	0.51012	D	0.999906	D	0.89917	1.0	D	0.85130	0.997	T	0.60845	-0.7182	10	0.38643	T	0.18	-17.1511	18.0534	0.89356	0.0:0.0:1.0:0.0	.	1120	Q8IZL2	MAML2_HUMAN	S	1120	ENSP00000434552:P1120S;ENSP00000412394:P1120S	ENSP00000412394:P1120S	P	-	1	0	MAML2	95351873	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	8.523000	0.90576	2.699000	0.92147	0.561000	0.74099	CCT		0.423	MAML2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395540.1			27	133	0	0	0	0.717897	0	27	133					A	95712225	G	A	95712225	3	1	41	1	0	0	0	0	1	0	0	0	9206	1232	43	3	116	3	MAML2	11	95712225	Missense_Mutation	SNP	G	TCGA-CH-5791-01A-11D-1576-08	33333560	95712225	39294291	33	2220											
SIDT2	51092	broad.mit.edu	37	chr11	117052139	117052139	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgtcgttctgcagacagaggGcgtgcgtgtgtctgtgaacg	6	11	16	8	4	2	3	0	1	2	2	3	3	2	3	0	1	3	2	0	1	1	1			TCGA-CH-5791-01A-11D-1576-08	TCGA-CH-5791-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f104f5f-f816-42cf-bdf5-65cbf9d7a5d4	8b462258-f66d-4893-a6f8-245278d1ce9d	g.chr11:117052139G>C	ENST00000324225.4	+	2	722	c.191G>C	c.(190-192)gGc>gCc	p.G64A	SIDT2_ENST00000431081.2_Missense_Mutation_p.G64A	NM_001040455.1	NP_001035545.1	Q8NBJ9	SIDT2_HUMAN	SID1 transmembrane family, member 2	64					cell morphogenesis (GO:0000902)|dsRNA transport (GO:0033227)|glucose homeostasis (GO:0042593)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|response to glucose (GO:0009749)|type B pancreatic cell development (GO:0003323)|type B pancreatic cell proliferation (GO:0044342)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	RNA transmembrane transporter activity (GO:0051033)	p.G64A(1)		NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	36	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.69e-05)|Epithelial(105;0.000219)|all cancers(92;0.00144)		CAGACAGAGGGCGTGCGTGTG	0.597											OREG0021368	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000324225.4																			1	Substitution - Missense(1)	p.G64A(1)	prostate(1)	NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	36						c.(190-192)gGc>gCc		SID1 transmembrane family, member 2							102	97	99					11																	117052139		2201	4296	6497	SO:0001583	missense	51092					integral to membrane|lysosomal membrane		g.chr11:117052139G>C	AF151799	CCDS31682.1	11q23.3	2008-02-05			ENSG00000149577	ENSG00000149577			24272	protein-coding gene	gene with protein product						10810093, 12975309	Standard	NM_001040455		Approved	CGI-40	uc001pqh.1	Q8NBJ9	OTTHUMG00000167065	ENST00000324225.4:c.191G>C	11.37:g.117052139G>C	ENSP00000314023:p.Gly64Ala		OREG0021368	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1478	SIDT2_ENST00000431081.2_Missense_Mutation_p.G64A	p.G64A	NM_001040455.1	NP_001035545.1	Q8NBJ9	SIDT2_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.69e-05)|Epithelial(105;0.000219)|all cancers(92;0.00144)	2	722	+	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)	64					Q8NBY7|Q9Y357	Missense_Mutation	SNP	ENST00000324225.4	37	c.191G>C	CCDS31682.1	.	.	.	.	.	.	.	.	.	.	G	17.26	3.345623	0.61073	.	.	ENSG00000149577	ENST00000324225;ENST00000532960;ENST00000525347;ENST00000278951;ENST00000431081	T;T;T;T	0.42900	2.45;0.96;2.44;2.44	4.97	4.97	0.65823	.	0.000000	0.85682	D	0.000000	T	0.49915	0.1585	L	0.31926	0.97	0.80722	D	1	P;D;B;B	0.89917	0.486;1.0;0.354;0.354	B;D;B;B	0.91635	0.389;0.999;0.11;0.217	T	0.30327	-0.9982	10	0.02654	T	1	-16.4839	18.4103	0.90549	0.0:0.0:1.0:0.0	.	64;64;64;64	Q8NBJ9-2;F5H8L4;Q8NBJ9;C9JBG5	.;.;SIDT2_HUMAN;.	A	64	ENSP00000314023:G64A;ENSP00000431176:G64A;ENSP00000278951:G64A;ENSP00000399635:G64A	ENSP00000278951:G64A	G	+	2	0	SIDT2	116557349	1.000000	0.71417	0.953000	0.39169	0.943000	0.58893	7.312000	0.78968	2.572000	0.86782	0.655000	0.94253	GGC		0.597	SIDT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392836.1	NM_015996		5	42	0	0	0	0.184627	0	5	42					C	117052139	G	C	117052139	3	2	41	1	0	0	0	0	1	0	0	0	14303	1203	42	5	197	5	SIDT2	11	117052139	Missense_Mutation	SNP	G	TCGA-CH-5791-01A-11D-1576-08	21339914	117052139	17954377	34	2221											
CCDC15	80071	broad.mit.edu	37	chr11	124857794	124857794	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggaatattctacccaaatgtCaggaccaggattttctaccc	12	11	7	11	0	3	0	1	0	2	0	3	3	3	3	3	3	2	0	3	3	5	6			TCGA-CH-5791-01A-11D-1576-08	TCGA-CH-5791-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f104f5f-f816-42cf-bdf5-65cbf9d7a5d4	8b462258-f66d-4893-a6f8-245278d1ce9d	g.chr11:124857794C>T	ENST00000344762.5	+	8	1931	c.1672C>T	c.(1672-1674)Cag>Tag	p.Q558*	CCDC15_ENST00000529051.1_Nonsense_Mutation_p.Q558*	NM_025004.2	NP_079280.2	Q0P6D6	CCD15_HUMAN	coiled-coil domain containing 15	558						centrosome (GO:0005813)		p.Q558*(2)		central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(1)	23	all_hematologic(175;0.215)	Breast(109;0.00222)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.68e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0413)		ACCCAAATGTCAGGACCAGGA	0.433																																						ENST00000529051.1																			2	Substitution - Nonsense(2)	p.Q558*(2)	prostate(2)	central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(1)	23						c.(1672-1674)Cag>Tag		coiled-coil domain containing 15							213	203	206					11																	124857794		1815	4071	5886	SO:0001587	stop_gained	80071					centrosome		g.chr11:124857794C>T	BC018540	CCDS44756.1	11q24.2	2008-02-05			ENSG00000149548	ENSG00000149548			25798	protein-coding gene	gene with protein product							Standard	NM_025004		Approved	FLJ13215	uc001qbm.4	Q0P6D6	OTTHUMG00000165940	ENST00000344762.5:c.1672C>T	11.37:g.124857794C>T	ENSP00000341684:p.Gln558*					CCDC15_ENST00000344762.5_Nonsense_Mutation_p.Q558*	p.Q558*			Q0P6D6	CCD15_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.68e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0413)	8	1931	+	all_hematologic(175;0.215)	Breast(109;0.00222)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	558					Q9H8U7	Nonsense_Mutation	SNP	ENST00000344762.5	37	c.1672C>T	CCDS44756.1	.	.	.	.	.	.	.	.	.	.	C	40	7.926128	0.98565	.	.	ENSG00000149548	ENST00000529051;ENST00000344762	.	.	.	3.99	2.01	0.26516	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.27082	T	0.32	.	4.6183	0.12437	0.0:0.6035:0.1853:0.2112	.	.	.	.	X	558	.	ENSP00000341684:Q558X	Q	+	1	0	CCDC15	124363004	0.001000	0.12720	0.007000	0.13788	0.713000	0.41058	0.495000	0.22483	0.421000	0.25980	0.501000	0.49751	CAG		0.433	CCDC15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387131.1	NM_025004		16	481	0	0	0	0.539581	0	16	481					T	124857794	C	T	124857794	4	4	41	1	0	0	0	0	0	1	0	0	2784	827	29	3	1698	3	CCDC15	11	124857794	Nonsense_Mutation	SNP	C	TCGA-CH-5791-01A-11D-1576-08	7805655	124857794	10148722	35	2222											
ZNF641	121274	broad.mit.edu	37	chr12	48737263	48737263	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gaaccccatacaaactgtttCccacactgggggcatgtgtg	10	9	10	12	0	0	0	0	0	0	0	1	1	1	0	3	2	3	2	3	2	3	2			TCGA-CH-5791-01A-11D-1576-08	TCGA-CH-5791-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f104f5f-f816-42cf-bdf5-65cbf9d7a5d4	8b462258-f66d-4893-a6f8-245278d1ce9d	g.chr12:48737263C>A	ENST00000544117.2	-	6	1518	c.810G>T	c.(808-810)ggG>ggT	p.G270G	ZNF641_ENST00000547026.1_Silent_p.G256G|ZNF641_ENST00000301042.3_Silent_p.G270G|ZNF641_ENST00000448928.3_Silent_p.G247G			Q96N77	ZN641_HUMAN	zinc finger protein 641	270					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)	p.G270G(1)		breast(1)|endometrium(2)|kidney(3)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	12						CAAACTGTTTCCCACACTGGG	0.527																																						ENST00000544117.2																			1	Substitution - coding silent(1)	p.G270G(1)	prostate(1)	breast(1)|endometrium(2)|kidney(3)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	12						c.(808-810)ggG>ggT		zinc finger protein 641							84	81	82					12																	48737263		2203	4300	6503	SO:0001819	synonymous_variant	121274				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding	g.chr12:48737263C>A	BC018090	CCDS8763.1, CCDS53787.1, CCDS53788.1	12q13.11	2013-01-08				ENSG00000167528		"Zinc fingers, C2H2-type", "-"	31834	protein-coding gene	gene with protein product		613906					Standard	NM_152320		Approved	FLJ31295	uc001rro.2	Q96N77		ENST00000544117.2:c.810G>T	12.37:g.48737263C>A						ZNF641_ENST00000448928.3_Silent_p.G247G|ZNF641_ENST00000301042.3_Silent_p.G270G|ZNF641_ENST00000547026.1_Silent_p.G256G	p.G270G			Q96N77	ZN641_HUMAN			6	1518	-			270					B3KS43|B4DNU5|Q8TCQ7|Q8WVE1	Silent	SNP	ENST00000544117.2	37	c.810G>T	CCDS8763.1																																																																																				0.527	ZNF641-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000406518.1	NM_152320		6	123	1	0	2.0095e-06	0.248553	2.35596e-06	6	123					A	48737263	C	A	48737263	2	1	41	1	0	0	0	0	0	0	0	1	18054	842	30	5		5	ZNF641	12	48737263	Silent	SNP	C	TCGA-CH-5791-01A-11D-1576-08		48737263	85114632	36	2223											
INHBC	3626	broad.mit.edu	37	chr12	57843267	57843267	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gtacctgctggaggtggatgCcagtggctggcatcaactcc	7	9	14	11	0	1	0	1	0	0	0	2	2	2	2	3	5	4	4	3	5	2	1			TCGA-CH-5791-01A-11D-1576-08	TCGA-CH-5791-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f104f5f-f816-42cf-bdf5-65cbf9d7a5d4	8b462258-f66d-4893-a6f8-245278d1ce9d	g.chr12:57843267C>T	ENST00000309668.2	+	2	648	c.521C>T	c.(520-522)gCc>gTc	p.A174V		NM_005538.2	NP_005529.1	P55103	INHBC_HUMAN	inhibin, beta C	174					growth (GO:0040007)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	transforming growth factor beta receptor binding (GO:0005160)	p.A174V(1)		breast(2)|endometrium(1)|large_intestine(6)|liver(2)|lung(4)|prostate(1)	16						GAGGTGGATGCCAGTGGCTGG	0.577																																						ENST00000309668.2																			1	Substitution - Missense(1)	p.A174V(1)	prostate(1)	breast(2)|endometrium(1)|large_intestine(6)|liver(2)|lung(4)|prostate(1)	16						c.(520-522)gCc>gTc		inhibin, beta C							85	84	84					12																	57843267		2203	4300	6503	SO:0001583	missense	3626				growth	extracellular region	growth factor activity|hormone activity|transforming growth factor beta receptor binding	g.chr12:57843267C>T		CCDS8938.1	12q13	2008-02-05				ENSG00000175189			6068	protein-coding gene	gene with protein product		601233				7826378	Standard	NM_005538		Approved		uc001snv.1	P55103	OTTHUMG00000169994	ENST00000309668.2:c.521C>T	12.37:g.57843267C>T	ENSP00000308716:p.Ala174Val					INHBC_ENST00000550133.1_Missense_Mutation_p.A174V	p.A174V	NM_005538.2	NP_005529.1	P55103	INHBC_HUMAN			2	648	+			174					A1L3Y2	Missense_Mutation	SNP	ENST00000309668.2	37	c.521C>T	CCDS8938.1	.	.	.	.	.	.	.	.	.	.	C	9.666	1.145353	0.21288	.	.	ENSG00000175189	ENST00000550133;ENST00000309668	T;T	0.64260	-0.09;-0.09	4.09	2.23	0.28157	Transforming growth factor-beta, N-terminal (1);	0.767143	0.12755	N	0.441854	T	0.46718	0.1407	L	0.43152	1.355	0.25959	N	0.982646	B	0.14012	0.009	B	0.15052	0.012	T	0.29941	-0.9995	10	0.26408	T	0.33	-2.5273	2.6156	0.04902	0.2056:0.5189:0.172:0.1035	.	174	P55103	INHBC_HUMAN	V	174	ENSP00000449889:A174V;ENSP00000308716:A174V	ENSP00000308716:A174V	A	+	2	0	INHBC	56129534	0.000000	0.05858	0.956000	0.39512	0.773000	0.43773	0.642000	0.24735	0.670000	0.31165	0.650000	0.86243	GCC		0.577	INHBC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406770.1	NM_005538		4	124	0	0	0	0.150653	0	4	124					T	57843267	C	T	57843267	3	4	41	1	0	0	0	0	1	0	0	0	7743	739	26	3	527	3	INHBC	12	57843267	Missense_Mutation	SNP	C	TCGA-CH-5791-01A-11D-1576-08	9106004	57843267	76008628	37	2224											
ANO4	121601	broad.mit.edu	37	chr12	101433785	101433785	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccatggagcagaaaaccaccGacatctactctatgagtgct	13	8	8	12	1	2	2	0	1	2	1	2	4	2	3	3	1	4	2	3	1	4	2			TCGA-CH-5791-01A-11D-1576-08	TCGA-CH-5791-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f104f5f-f816-42cf-bdf5-65cbf9d7a5d4	8b462258-f66d-4893-a6f8-245278d1ce9d	g.chr12:101433785G>A	ENST00000392977.3	+	11	1160	c.950G>A	c.(949-951)cGa>cAa	p.R317Q	RP11-350G24.1_ENST00000549036.1_RNA|ANO4_ENST00000392979.3_Missense_Mutation_p.R282Q|ANO4_ENST00000299222.9_5'UTR			Q32M45	ANO4_HUMAN	anoctamin 4	317					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)	p.R282Q(1)		NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						GAAAACCACCGACATCTACTC	0.438										HNSCC(74;0.22)																												ENST00000392979.3																			1	Substitution - Missense(1)	p.R282Q(1)	prostate(1)	NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						c.(844-846)cGa>cAa		anoctamin 4							126	130	129					12																	101433785		2203	4300	6503	SO:0001583	missense	121601					chloride channel complex	chloride channel activity	g.chr12:101433785G>A	AK091540	CCDS31884.1, CCDS66445.1	12q23.3	2014-04-09	2008-08-28	2008-08-28	ENSG00000151572	ENSG00000151572		"Ion channels / Chloride channels : Calcium activated : Anoctamins"	23837	protein-coding gene	gene with protein product		610111	"transmembrane protein 16D"	TMEM16D		12739008, 15067359, 24692353	Standard	NM_178826		Approved	FLJ34221, FLJ34272, FLJ35277	uc001thw.2	Q32M45		ENST00000392977.3:c.950G>A	12.37:g.101433785G>A	ENSP00000376703:p.Arg317Gln	HNSCC(74;0.22)				ANO4_ENST00000299222.9_5'UTR|ANO4_ENST00000392977.3_Missense_Mutation_p.R317Q	p.R282Q	NM_178826.3	NP_849148.2	Q32M45	ANO4_HUMAN			10	1206	+			317					Q8NAJ0|Q8NB39|Q8NB53	Missense_Mutation	SNP	ENST00000392977.3	37	c.845G>A		.	.	.	.	.	.	.	.	.	.	G	36	5.736768	0.96865	.	.	ENSG00000151572	ENST00000392979;ENST00000392977	T;T	0.69685	-0.42;-0.42	5.76	5.76	0.90799	.	0.000000	0.64402	D	0.000001	D	0.85026	0.5603	M	0.89478	3.035	0.80722	D	1	D;D	0.89917	0.999;1.0	P;D	0.67900	0.9;0.954	D	0.87090	0.2172	10	0.87932	D	0	.	19.9813	0.97326	0.0:0.0:1.0:0.0	.	317;282	Q32M45;Q32M45-2	ANO4_HUMAN;.	Q	282;317	ENSP00000376705:R282Q;ENSP00000376703:R317Q	ENSP00000376703:R317Q	R	+	2	0	ANO4	99957916	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.869000	0.99810	2.726000	0.93360	0.655000	0.94253	CGA		0.438	ANO4-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000409295.1	NM_178826		104	249	0	0	0	0.870114	0	104	249					A	101433785	G	A	101433785	3	1	41	1	0	0	0	0	1	0	0	0	699	1058	37	2	879	2	ANO4	12	101433785	Missense_Mutation	SNP	G	TCGA-CH-5791-01A-11D-1576-08	43590518	101433785	32418110	38	2225											
DAO	1610	broad.mit.edu	37	chr12	109290787	109290787	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccctgaatcaacaggtggaCgccccttggatgaagcactt	10	8	11	12	1	1	2	1	2	0	0	1	4	1	4	3	3	2	1	3	3	3	2			TCGA-CH-5791-01A-11D-1576-08	TCGA-CH-5791-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f104f5f-f816-42cf-bdf5-65cbf9d7a5d4	8b462258-f66d-4893-a6f8-245278d1ce9d	g.chr12:109290787C>T	ENST00000228476.3	+	8	822	c.618C>T	c.(616-618)gaC>gaT	p.D206D	DAO_ENST00000551281.1_Silent_p.D140D	NM_001917.4	NP_001908.3	P14920	OXDA_HUMAN	D-amino-acid oxidase	206					cellular nitrogen compound metabolic process (GO:0034641)|D-alanine catabolic process (GO:0055130)|D-serine catabolic process (GO:0036088)|D-serine metabolic process (GO:0070178)|dopamine biosynthetic process (GO:0042416)|glyoxylate metabolic process (GO:0046487)|leucine metabolic process (GO:0006551)|proline catabolic process (GO:0006562)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	cofactor binding (GO:0048037)|D-amino-acid oxidase activity (GO:0003884)|FAD binding (GO:0071949)|protein dimerization activity (GO:0046983)|receptor binding (GO:0005102)	p.D206D(1)		NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|prostate(2)|skin(1)	26					Flavin adenine dinucleotide(DB03147)	AACAGGTGGACGCCCCTTGGA	0.547																																						ENST00000228476.3																			1	Substitution - coding silent(1)	p.D206D(1)	prostate(1)	NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|prostate(2)|skin(1)	26						c.(616-618)gaC>gaT		D-amino-acid oxidase							136	106	116					12																	109290787		2203	4300	6503	SO:0001819	synonymous_variant	1610				glyoxylate metabolic process	peroxisomal matrix	binding|D-amino-acid oxidase activity	g.chr12:109290787C>T	D11370	CCDS9122.1	12q24.11	2013-09-20			ENSG00000110887	ENSG00000110887	1.4.3.3		2671	protein-coding gene	gene with protein product		124050				1356107, 8182053	Standard	NM_001917		Approved	DAMOX	uc001tnr.4	P14920	OTTHUMG00000169360	ENST00000228476.3:c.618C>T	12.37:g.109290787C>T						DAO_ENST00000551281.1_Silent_p.D140D	p.D206D	NM_001917.4	NP_001908.3	P14920	OXDA_HUMAN			8	822	+			206					B2R7I5|Q16758|Q8N6R2	Silent	SNP	ENST00000228476.3	37	c.618C>T	CCDS9122.1																																																																																				0.547	DAO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403682.1			34	55	0	0	0	0.796494	0	34	55					T	109290787	C	T	109290787	2	4	41	1	0	0	0	0	0	0	0	1	4231	535	19	1		1	DAO	12	109290787	Silent	SNP	C	TCGA-CH-5791-01A-11D-1576-08	7857002	109290787	24561108	39	2226											
GCN1L1	10985	broad.mit.edu	37	chr12	120615277	120615277	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aacattctctggactcctcaGtaaggacttctgtatggtgg	9	13	10	9	0	3	0	1	0	2	0	5	2	4	2	1	4	1	2	1	4	3	4			TCGA-CH-5791-01A-11D-1576-08	TCGA-CH-5791-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f104f5f-f816-42cf-bdf5-65cbf9d7a5d4	8b462258-f66d-4893-a6f8-245278d1ce9d	g.chr12:120615277G>A	ENST00000300648.6	-	9	823	c.811C>T	c.(811-813)Ctg>Ttg	p.L271L		NM_006836.1	NP_006827	Q92616	GCN1L_HUMAN	GCN1 general control of amino-acid synthesis 1-like 1 (yeast)	271					regulation of translation (GO:0006417)|translation (GO:0006412)	cytoplasm (GO:0005737)|membrane (GO:0016020)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)	p.L271L(1)		NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GGACTCCTCAGTAAGGACTTC	0.448																																						ENST00000300648.6																			1	Substitution - coding silent(1)	p.L271L(1)	prostate(1)	NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94						c.(811-813)Ctg>Ttg		GCN1 general control of amino-acid synthesis 1-like 1 (yeast)							91	85	87					12																	120615277		1921	4129	6050	SO:0001819	synonymous_variant	10985				regulation of translation	ribosome	protein binding|translation factor activity, nucleic acid binding	g.chr12:120615277G>A	U77700	CCDS41847.1	12q24.2	2008-07-03	2001-11-28						4199	protein-coding gene	gene with protein product		605614	"GCN1 (general control of amino-acid synthesis 1, yeast)-like 1"			9234705	Standard	NM_006836		Approved	KIAA0219, GCN1, GCN1L	uc001txo.3	Q92616	OTTHUMG00000169338	ENST00000300648.6:c.811C>T	12.37:g.120615277G>A							p.L271L	NM_006836.1	NP_006827.1	Q92616	GCN1L_HUMAN			9	823	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		271					A8KAY1|O95001|O95651|Q6P2S3|Q86X65|Q8N5I5|Q8WU80|Q99736|Q9UE60	Silent	SNP	ENST00000300648.6	37	c.811C>T	CCDS41847.1																																																																																				0.448	GCN1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403592.1			19	66	0	0	0	0.557998	0	19	66					A	120615277	G	A	120615277	2	1	41	1	0	0	0	0	0	0	0	1	6299	1020	36	3		3	GCN1L1	12	120615277	Silent	SNP	G	TCGA-CH-5791-01A-11D-1576-08	11324490	120615277	13236618	40	2227											
B3GNT4	79369	broad.mit.edu	37	chr12	122691205	122691209	+	Frame_Shift_Del	DEL	CTATC	CTATC	-																															tcacgtggagcgacgtgcggCtatccgcagcacgtggggca																								rs373034990	byFrequency	TCGA-CH-5791-01A-11D-1576-08	TCGA-CH-5791-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f104f5f-f816-42cf-bdf5-65cbf9d7a5d4	8b462258-f66d-4893-a6f8-245278d1ce9d	g.chr12:122691205_122691209delCTATC	ENST00000324189.4	+	3	763_767	c.407_411delCTATC	c.(406-411)gctatcfs	p.AI136fs	B3GNT4_ENST00000545141.1_Intron|B3GNT4_ENST00000546192.1_Frame_Shift_Del_p.AI111fs|B3GNT4_ENST00000535274.1_Frame_Shift_Del_p.AI111fs	NM_030765.2	NP_110392.1	Q9C0J1	B3GN4_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 4	136					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	galactosyltransferase activity (GO:0008378)	p.I137M(1)		NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	13	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000297)|Epithelial(86;0.000497)|BRCA - Breast invasive adenocarcinoma(302;0.222)		CGACGTGCGGCTATCCGCAGCACGT	0.629																																						ENST00000535274.1																			1	Substitution - Missense(1)	p.I137M(1)	NS(1)	NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	13						c.(331-336)gfs		UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 4																																				SO:0001589	frameshift_variant	79369				protein glycosylation	Golgi membrane|integral to membrane	galactosyltransferase activity	g.chr12:122691205_122691209delCTATC	AB049586	CCDS9227.1	12q24	2013-02-19						"Beta 3-glycosyltransferases"	15683	protein-coding gene	gene with protein product		605864				11042166	Standard	NM_030765		Approved	B3GN-T4, beta3Gn-T4	uc001ubx.3	Q9C0J1		ENST00000324189.4:c.407_411delCTATC	12.37:g.122691205_122691209delCTATC	ENSP00000319636:p.Ala136fs					B3GNT4_ENST00000546192.1_Frame_Shift_Del_p.AI111fs|B3GNT4_ENST00000545141.1_Intron|B3GNT4_ENST00000324189.4_Frame_Shift_Del_p.AI136fs	p.AI111fs			Q9C0J1	B3GN4_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000297)|Epithelial(86;0.000497)|BRCA - Breast invasive adenocarcinoma(302;0.222)	1	2059_2063	+	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		136					Q8N5W4|Q8N934|Q8ND21|Q8WWR5|Q8WY02|Q96QH5	Frame_Shift_Del	DEL	ENST00000324189.4	37	c.332_336delCTATC	CCDS9227.1																																																																																				0.629	B3GNT4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000401595.1	NM_030765		9	169						9	169	---	---	---	---	-	122691209	CTATC	-	122691205	7	5	41	1	0	1	0	1	0	0	0	0	1259	797	28	0	413	0	B3GNT4	12	122691205	Frame_Shift_Del	DEL	CTATC	TCGA-CH-5791-01A-11D-1576-08	2075928	122691205	11160690	41	2228			1	8		2	2	16	N	CTATC_-	2.664973e-05
B3GNT4	79369	broad.mit.edu	37	chr12	122691220	122691221	+	Frame_Shift_Ins	INS	-	-	CT																															gcggctatccgcagcacgtgINSgggcagggtggggggatggg																										TCGA-CH-5791-01A-11D-1576-08	TCGA-CH-5791-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f104f5f-f816-42cf-bdf5-65cbf9d7a5d4	8b462258-f66d-4893-a6f8-245278d1ce9d	g.chr12:122691220_122691221insCT	ENST00000324189.4	+	3	778_779	c.422_423insCT	c.(421-426)tggggcfs	p.WG141fs	B3GNT4_ENST00000545141.1_Intron|B3GNT4_ENST00000546192.1_Frame_Shift_Ins_p.WG116fs|B3GNT4_ENST00000535274.1_Frame_Shift_Ins_p.WG116fs	NM_030765.2	NP_110392.1	Q9C0J1	B3GN4_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 4	141					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	galactosyltransferase activity (GO:0008378)			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	13	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000297)|Epithelial(86;0.000497)|BRCA - Breast invasive adenocarcinoma(302;0.222)		CGCAGCACGTGGGGCAGGGTGG	0.644																																						ENST00000535274.1																			0				NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	13						c.(346-348)tggfs		UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 4																																				SO:0001589	frameshift_variant	79369				protein glycosylation	Golgi membrane|integral to membrane	galactosyltransferase activity	g.chr12:122691220_122691221insCT	AB049586	CCDS9227.1	12q24	2013-02-19						"Beta 3-glycosyltransferases"	15683	protein-coding gene	gene with protein product		605864				11042166	Standard	NM_030765		Approved	B3GN-T4, beta3Gn-T4	uc001ubx.3	Q9C0J1		Exception_encountered	12.37:g.122691220_122691221insCT	ENSP00000319636:p.Trp141fs					B3GNT4_ENST00000546192.1_Frame_Shift_Ins_p.W116fs|B3GNT4_ENST00000545141.1_Intron|B3GNT4_ENST00000324189.4_Frame_Shift_Ins_p.W141fs	p.W116fs			Q9C0J1	B3GN4_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000297)|Epithelial(86;0.000497)|BRCA - Breast invasive adenocarcinoma(302;0.222)	1	2074_2075	+	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		141					Q8N5W4|Q8N934|Q8ND21|Q8WWR5|Q8WY02|Q96QH5	Frame_Shift_Ins	INS	ENST00000324189.4	37	c.347_348insCT	CCDS9227.1																																																																																				0.644	B3GNT4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000401595.1	NM_030765		22	131						22	131	---	---	---	---	CT	122691221	-	CT	122691220	7	5	41	1	0	1	1	0	0	0	0	0	1259	1357	47	0	428	0	B3GNT4	12	122691220	Frame_Shift_Ins	INS	-	TCGA-CH-5791-01A-11D-1576-08	15	122691220	11160675	42	2229			1	8		2	2	16	N	CTATC_-	2.664973e-05
GPR133	283383	broad.mit.edu	37	chr12	131593399	131593399	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtcggaggacagcaagcaccGttactactatgggatgggat	11	8	14	8	2	0	0	0	0	0	0	1	4	0	4	1	4	4	3	1	4	4	3	rs141128784		TCGA-CH-5791-01A-11D-1576-08	TCGA-CH-5791-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f104f5f-f816-42cf-bdf5-65cbf9d7a5d4	8b462258-f66d-4893-a6f8-245278d1ce9d	g.chr12:131593399G>A	ENST00000261654.5	+	18	2577	c.2018G>A	c.(2017-2019)cGt>cAt	p.R673H	GPR133_ENST00000535015.1_Missense_Mutation_p.R705H|GPR133_ENST00000543617.1_Missense_Mutation_p.R192H|GPR133_ENST00000376682.4_Missense_Mutation_p.R359H	NM_198827.3	NP_942122.2	Q6QNK2	GP133_HUMAN	G protein-coupled receptor 133	673					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.R673H(1)		NS(2)|breast(2)|endometrium(6)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|pancreas(6)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	67	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)		AGCAAGCACCGTTACTACTat	0.607													g|||	1	0.000199681	8e-04	0	5008	,	,		11651	0		0	False		,,,				2504	0					ENST00000261654.5																			1	Substitution - Missense(1)	p.R673H(1)	prostate(1)	NS(2)|breast(2)|endometrium(6)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|pancreas(6)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	67						c.(2017-2019)cGt>cAt		G protein-coupled receptor 133		A	HIS/ARG	4,4402	8.1+/-20.4	0,4,2199	114	105	108		2018	-5.2	0.3	12	dbSNP_134	108	0,8600		0,0,4300	no	missense	GPR133	NM_198827.3	29	0,4,6499	AA,AG,GG		0.0,0.0908,0.0308	benign	673/875	131593399	4,13002	2203	4300	6503	SO:0001583	missense	283383				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr12:131593399G>A	AY278561	CCDS9272.1	12q24.33	2014-08-08			ENSG00000111452	ENSG00000111452		"-", "GPCR / Class B : Orphans"	19893	protein-coding gene	gene with protein product		613639					Standard	NM_198827		Approved	DKFZp434B1272, PGR25	uc001uit.4	Q6QNK2	OTTHUMG00000168339	ENST00000261654.5:c.2018G>A	12.37:g.131593399G>A	ENSP00000261654:p.Arg673His					GPR133_ENST00000535015.1_Missense_Mutation_p.R705H|GPR133_ENST00000376682.4_Missense_Mutation_p.R359H|GPR133_ENST00000543617.1_Missense_Mutation_p.R192H	p.R673H	NM_198827.3	NP_942122.2	Q6QNK2	GP133_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)	18	2577	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)		673					B2CKK9|B7ZLF7|Q2M1L3|Q6ZMQ1|Q7Z7M2|Q86SM4	Missense_Mutation	SNP	ENST00000261654.5	37	c.2018G>A	CCDS9272.1	.	.	.	.	.	.	.	.	.	.	g	13.48	2.250340	0.39797	9.08E-4	0.0	ENSG00000111452	ENST00000261654;ENST00000535015;ENST00000376682;ENST00000543617	T;T;T;T	0.42513	1.18;1.21;0.97;0.97	4.78	-5.21	0.02815	GPCR, family 2-like (1);	0.429012	0.26038	N	0.026706	T	0.34629	0.0904	M	0.70842	2.15	0.20074	N	0.999931	B;B;B	0.31351	0.001;0.32;0.216	B;B;B	0.33568	0.005;0.064;0.166	T	0.21415	-1.0246	10	0.33141	T	0.24	.	8.6912	0.34267	0.2113:0.0:0.4899:0.2988	.	705;192;673	B7ZLF7;Q6QNK2-3;Q6QNK2	.;.;GP133_HUMAN	H	673;705;359;192	ENSP00000261654:R673H;ENSP00000444425:R705H;ENSP00000365872:R359H;ENSP00000438021:R192H	ENSP00000261654:R673H	R	+	2	0	GPR133	130159352	0.869000	0.29996	0.336000	0.25522	0.819000	0.46315	0.830000	0.27462	-1.407000	0.02043	-1.480000	0.00990	CGT		0.607	GPR133-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399356.1	NM_198827		26	163	0	0	0	0.654019	0	26	163					A	131593399	G	A	131593399	3	1	41	1	0	0	0	0	1	0	0	0	6643	1145	40	1	2088	1	GPR133	12	131593399	Missense_Mutation	SNP	G	TCGA-CH-5791-01A-11D-1576-08	8902179	131593399	2258496	43	2230											
METTL3	56339	broad.mit.edu	37	chr14	21971365	21971365	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gttggttcagaaggctctctAtctccagatcaacatctgag	10	12	9	10	0	5	3	2	1	3	2	7	3	5	3	1	2	1	3	1	2	3	3			TCGA-CH-5791-01A-11D-1576-08	TCGA-CH-5791-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f104f5f-f816-42cf-bdf5-65cbf9d7a5d4	8b462258-f66d-4893-a6f8-245278d1ce9d	g.chr14:21971365A>C	ENST00000298717.4	-	3	825	c.674T>G	c.(673-675)aTa>aGa	p.I225R	METTL3_ENST00000538267.1_Nonstop_Mutation_p.*154E	NM_019852.3	NP_062826.2	Q86U44	MTA70_HUMAN	methyltransferase like 3	225					circadian rhythm (GO:0007623)|gene expression (GO:0010467)|mRNA destabilization (GO:0061157)|mRNA methylation (GO:0080009)|mRNA processing (GO:0006397)|RNA methylation (GO:0001510)|stem cell maintenance (GO:0019827)	MIS complex (GO:0036396)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	mRNA (2'-O-methyladenosine-N6-)-methyltransferase activity (GO:0016422)|RNA binding (GO:0003723)	p.I225R(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	20	all_cancers(95;0.000628)		Epithelial(56;6.61e-06)	GBM - Glioblastoma multiforme(265;0.0146)		AAGGCTCTCTATCTCCAGATC	0.443																																						ENST00000538267.1																			1	Substitution - Missense(1)	p.I225R(1)	prostate(1)	breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	20						c.(460-462)Tag>Gag		methyltransferase like 3							182	174	177					14																	21971365		2203	4300	6503	SO:0001583	missense	56339				gene expression	nuclear speck	mRNA (2'-O-methyladenosine-N6-)-methyltransferase activity|RNA binding	g.chr14:21971365A>C	AF014837	CCDS32044.1	14q11.1	2012-06-12			ENSG00000165819	ENSG00000165819	2.1.1.62		17563	protein-coding gene	gene with protein product	"N6-adenosine-methyltransferase 70 kDa subunit"	612472					Standard	XM_006720206		Approved	Spo8, M6A, MT-A70	uc001wbc.3	Q86U44	OTTHUMG00000168825	ENST00000298717.4:c.674T>G	14.37:g.21971365A>C	ENSP00000298717:p.Ile225Arg					METTL3_ENST00000298717.4_Missense_Mutation_p.I225R	p.*154E			Q86U44	MTA70_HUMAN	Epithelial(56;6.61e-06)	GBM - Glioblastoma multiforme(265;0.0146)	4	576	-	all_cancers(95;0.000628)		0					O14736|Q86V05|Q9HB32	Nonstop_Mutation	SNP	ENST00000298717.4	37	c.460T>G	CCDS32044.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	17.86|17.86	3.492951|3.492951	0.64074|0.64074	.|.	.|.	ENSG00000165819|ENSG00000165819	ENST00000298717|ENST00000538267	T|.	0.28895|.	1.59|.	5.36|5.36	5.36|5.36	0.76844|0.76844	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.59702|.	0.2213|.	M|M	0.69823|0.69823	2.125|2.125	0.18873|0.18873	N|N	0.999986|0.999986	D;D;D|.	0.76494|.	0.999;0.999;0.992|.	D;D;P|.	0.85130|.	0.996;0.997;0.901|.	T|.	0.55114|.	-0.8191|.	10|.	0.56958|.	D|.	0.05|.	-13.3899|-13.3899	14.4818|14.4818	0.67587|0.67587	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	225;225;225|.	B4E2F6;B4DTN4;Q86U44|.	.;.;MTA70_HUMAN|.	R|E	225|154	ENSP00000298717:I225R|.	ENSP00000298717:I225R|.	I|X	-|-	2|1	0|0	METTL3|METTL3	21041205|21041205	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	8.024000|8.024000	0.88770|0.88770	2.257000|2.257000	0.74773|0.74773	0.460000|0.460000	0.39030|0.39030	ATA|TAG		0.443	METTL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401227.1	NM_019852		97	210	0	0	0	0.870114	0	97	210					C	21971365	A	C	21971365	3	2	41	1	0	0	0	0	1	0	0	0	9501	449	16	5	1104	5	METTL3	14	21971365	Missense_Mutation	SNP	A	TCGA-CH-5791-01A-11D-1576-08		21971365	85378175	44	2231											
LRRC16B	90668	broad.mit.edu	37	chr14	24530760	24530760	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agttatgccctgtggccatgCgggtggccgagggacacaac	8	7	15	11	2	0	0	0	0	0	0	0	2	0	1	3	4	3	1	3	4	2	1			TCGA-CH-5791-01A-11D-1576-08	TCGA-CH-5791-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f104f5f-f816-42cf-bdf5-65cbf9d7a5d4	8b462258-f66d-4893-a6f8-245278d1ce9d	g.chr14:24530760C>T	ENST00000342740.5	+	27	2513	c.2359C>T	c.(2359-2361)Cgg>Tgg	p.R787W	LRRC16B_ENST00000334420.7_5'UTR	NM_138360.3	NP_612369.3	Q8ND23	LR16B_HUMAN	leucine rich repeat containing 16B	787						cytoplasm (GO:0005737)		p.R787W(3)		breast(3)|central_nervous_system(2)|cervix(3)|endometrium(7)|kidney(1)|large_intestine(9)|liver(1)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	52				GBM - Glioblastoma multiforme(265;0.019)		TGTGGCCATGCGGGTGGCCGA	0.612																																						ENST00000342740.5																			3	Substitution - Missense(3)	p.R787W(3)	prostate(2)|lung(1)	breast(3)|central_nervous_system(2)|cervix(3)|endometrium(7)|kidney(1)|large_intestine(9)|liver(1)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	52						c.(2359-2361)Cgg>Tgg		leucine rich repeat containing 16B							73	63	67					14																	24530760		2203	4300	6503	SO:0001583	missense	90668							g.chr14:24530760C>T	AI017934	CCDS32054.1	14q11.2-q12	2010-09-10	2008-02-12	2008-02-12					20272	protein-coding gene	gene with protein product		614716	"chromosome 14 open reading frame 121"	C14orf121		19846667	Standard	NM_138360		Approved	BC008134, crml-1, CARMIL3	uc001wlj.2	Q8ND23		ENST00000342740.5:c.2359C>T	14.37:g.24530760C>T	ENSP00000340467:p.Arg787Trp					LRRC16B_ENST00000334420.7_5'UTR	p.R787W	NM_138360.3	NP_612369.3	Q8ND23	LR16B_HUMAN		GBM - Glioblastoma multiforme(265;0.019)	27	2513	+			787					Q8TEF7|Q96HS9	Missense_Mutation	SNP	ENST00000342740.5	37	c.2359C>T	CCDS32054.1	.	.	.	.	.	.	.	.	.	.	C	15.85	2.955757	0.53293	.	.	ENSG00000186648	ENST00000342740	T	0.15718	2.4	5.27	3.36	0.38483	.	0.174329	0.40144	N	0.001165	T	0.21962	0.0529	N	0.19112	0.55	0.80722	D	1	D	0.76494	0.999	P	0.62014	0.897	T	0.03166	-1.1065	10	0.87932	D	0	-14.9968	10.8426	0.46724	0.3396:0.6604:0.0:0.0	.	787	Q8ND23	LR16B_HUMAN	W	787	ENSP00000340467:R787W	ENSP00000340467:R787W	R	+	1	2	LRRC16B	23600600	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	0.748000	0.26305	1.430000	0.47334	-0.182000	0.12963	CGG		0.612	LRRC16B-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416527.1	NM_138360		3	62	0	0	0	0.115264	0	3	62					T	24530760	C	T	24530760	3	4	41	1	0	0	0	0	1	0	0	0	8972	759	27	1	2465	1	LRRC16B	14	24530760	Missense_Mutation	SNP	C	TCGA-CH-5791-01A-11D-1576-08	2559395	24530760	82818780	45	2232											
SPSB3	90864	broad.mit.edu	37	chr16	1831441	1831441	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtctcggcgggctgcactcAggacgaagtgccaggccctg	6	6	15	14	4	2	0	1	0	1	0	3	2	2	1	2	4	2	2	2	4	1	0			TCGA-CH-5791-01A-11D-1576-08	TCGA-CH-5791-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f104f5f-f816-42cf-bdf5-65cbf9d7a5d4	8b462258-f66d-4893-a6f8-245278d1ce9d	g.chr16:1831441A>G	ENST00000566339.1	-	2	374	c.44T>C	c.(43-45)cTg>cCg	p.L15P	NUBP2_ENST00000543305.1_5'Flank|NUBP2_ENST00000565134.1_5'Flank|NUBP2_ENST00000565987.1_5'Flank|NUBP2_ENST00000568706.1_5'Flank|NUBP2_ENST00000262302.9_5'Flank|SPSB3_ENST00000301717.4_Missense_Mutation_p.L15P	NM_080861.3	NP_543137.2	Q6PJ21	SPSB3_HUMAN	splA/ryanodine receptor domain and SOCS box containing 3	15					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)			p.L15P(1)		endometrium(1)|kidney(4)|lung(3)|prostate(2)	10						GGCTGCACTCAGGACGAAGTG	0.617																																						ENST00000566339.1																			1	Substitution - Missense(1)	p.L15P(1)	prostate(1)	endometrium(1)|kidney(4)|lung(3)|prostate(2)	10						c.(43-45)cTg>cCg		splA/ryanodine receptor domain and SOCS box containing 3							29	30	30					16																	1831441		2194	4298	6492	SO:0001583	missense	90864				intracellular signal transduction			g.chr16:1831441A>G		CCDS32365.1	16p13.3	2008-02-05				ENSG00000162032			30629	protein-coding gene	gene with protein product		611659	"chromosome 16 open reading frame 31"	C16orf31		12076535	Standard	NM_080861		Approved	SSB-3	uc002cmu.3	Q6PJ21		ENST00000566339.1:c.44T>C	16.37:g.1831441A>G	ENSP00000457206:p.Leu15Pro					SPSB3_ENST00000301717.4_Missense_Mutation_p.L15P	p.L15P	NM_080861.3	NP_543137.2	Q6PJ21	SPSB3_HUMAN			2	374	-			15					D3DU78|Q49A96|Q86X18|Q8WXK5|Q96IE6|Q96RY2	Missense_Mutation	SNP	ENST00000566339.1	37	c.44T>C	CCDS32365.1	.	.	.	.	.	.	.	.	.	.	A	20.2	3.947468	0.73672	.	.	ENSG00000162032	ENST00000301717	T	0.50277	0.75	3.88	3.88	0.44766	.	0.102768	0.41712	D	0.000840	T	0.62332	0.2419	L	0.60455	1.87	0.80722	D	1	D;D	0.89917	1.0;0.989	D;P	0.80764	0.994;0.768	T	0.65467	-0.6161	10	0.66056	D	0.02	-13.7685	11.9378	0.52884	1.0:0.0:0.0:0.0	.	15;15	B7Z7H9;Q6PJ21	.;SPSB3_HUMAN	P	15	ENSP00000301717:L15P	ENSP00000301717:L15P	L	-	2	0	SPSB3	1771442	1.000000	0.71417	0.999000	0.59377	0.939000	0.58152	5.403000	0.66338	1.764000	0.52075	0.379000	0.24179	CTG		0.617	SPSB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433512.1	NM_080861		16	19	0	0	0	0.500413	0	16	19					G	1831441	A	G	1831441	3	3	41	1	0	0	0	0	1	0	0	0	15113	188	7	4	1047	4	SPSB3	16	1831441	Missense_Mutation	SNP	A	TCGA-CH-5791-01A-11D-1576-08		1831441	88523312	46	2233											
CCDC135	84229	broad.mit.edu	37	chr16	57756742	57756742	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagccgcctcaccacctatgAggacttgcagtgtaaggggg	9	7	14	11	1	1	1	1	1	0	0	1	3	1	2	4	3	2	2	4	3	2	3			TCGA-CH-5791-01A-11D-1576-08	TCGA-CH-5791-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f104f5f-f816-42cf-bdf5-65cbf9d7a5d4	8b462258-f66d-4893-a6f8-245278d1ce9d	g.chr16:57756742A>G	ENST00000360716.3	+	11	1618	c.1397A>G	c.(1396-1398)gAg>gGg	p.E466G	CCDC135_ENST00000336825.8_Missense_Mutation_p.E401G|CCDC135_ENST00000394337.4_Missense_Mutation_p.E466G			Q8IY82	CC135_HUMAN		466					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|motile cilium (GO:0031514)		p.E466G(1)		breast(1)|central_nervous_system(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30						ACCACCTATGAGGACTTGCAG	0.597																																						ENST00000360716.3																			1	Substitution - Missense(1)	p.E466G(1)	prostate(1)	breast(1)|central_nervous_system(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30						c.(1396-1398)gAg>gGg		coiled-coil domain containing 135							77	73	74					16																	57756742		2198	4300	6498	SO:0001583	missense	84229					cytoplasm		g.chr16:57756742A>G																												ENST00000360716.3:c.1397A>G	16.37:g.57756742A>G	ENSP00000353942:p.Glu466Gly					CCDC135_ENST00000336825.8_Missense_Mutation_p.E401G|CCDC135_ENST00000394337.4_Missense_Mutation_p.E466G	p.E466G			Q8IY82	CC135_HUMAN			11	1618	+			466					A8K943|Q8NAA0|Q9H080	Missense_Mutation	SNP	ENST00000360716.3	37	c.1397A>G	CCDS10787.1	.	.	.	.	.	.	.	.	.	.	.	7.827	0.719116	0.15372	.	.	ENSG00000159625	ENST00000394337;ENST00000336825;ENST00000360716	T;T;T	0.11385	2.94;2.78;2.94	5.22	1.55	0.23275	.	0.709944	0.14535	N	0.313637	T	0.15782	0.0380	M	0.80183	2.485	0.21445	N	0.999682	P;P	0.47350	0.894;0.682	P;B	0.46585	0.521;0.167	T	0.13656	-1.0501	10	0.30078	T	0.28	-12.1208	3.3753	0.07235	0.3728:0.4138:0.0794:0.134	.	401;466	Q8IY82-2;Q8IY82	.;CC135_HUMAN	G	466;401;466	ENSP00000377869:E466G;ENSP00000338938:E401G;ENSP00000353942:E466G	ENSP00000338938:E401G	E	+	2	0	CCDC135	56314243	0.986000	0.35501	0.137000	0.22149	0.086000	0.17979	2.995000	0.49441	-0.012000	0.14223	0.528000	0.53228	GAG		0.597	CCDC135-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433323.2			3	75	0	0	0	0.115264	0	3	75					G	57756742	A	G	57756742	3	3	41	1	0	0	0	0	1	0	0	0	2769	304	11	4	1431	4	CCDC135	16	57756742	Missense_Mutation	SNP	A	TCGA-CH-5791-01A-11D-1576-08	55925301	57756742	32598011	47	2234											
ZZEF1	23140	broad.mit.edu	37	chr17	3992020	3992020	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgaagggtcctgaggagcaaCgtggccccacagacactctc	10	6	12	13	1	1	3	0	2	1	1	3	4	2	4	3	3	2	1	3	3	2	0			TCGA-CH-5791-01A-11D-1576-08	TCGA-CH-5791-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f104f5f-f816-42cf-bdf5-65cbf9d7a5d4	8b462258-f66d-4893-a6f8-245278d1ce9d	g.chr17:3992020C>T	ENST00000381638.2	-	13	2317	c.2193G>A	c.(2191-2193)acG>acA	p.T731T	ZZEF1_ENST00000574474.1_5'UTR	NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN	zinc finger, ZZ-type with EF-hand domain 1	731							calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)	p.T731T(1)		central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						TGAGGAGCAACGTGGCCCCAC	0.547																																						ENST00000381638.2																			1	Substitution - coding silent(1)	p.T731T(1)	prostate(1)	central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						c.(2191-2193)acG>acA		zinc finger, ZZ-type with EF-hand domain 1							142	104	117					17																	3992020		2203	4300	6503	SO:0001819	synonymous_variant	23140						calcium ion binding|zinc ion binding	g.chr17:3992020C>T	BC035319	CCDS11043.1	17p13.3	2013-01-10	2004-11-03		ENSG00000074755	ENSG00000074755		"Zinc fingers, ZZ-type", "EF-hand domain containing"	29027	protein-coding gene	gene with protein product			"zinc finger, ZZ-type with EF hand domain 1"			9455477	Standard	XM_005256560		Approved	KIAA0399, ZZZ4, FLJ10821	uc002fxe.3	O43149	OTTHUMG00000090741	ENST00000381638.2:c.2193G>A	17.37:g.3992020C>T						ZZEF1_ENST00000574474.1_5'UTR	p.T731T	NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN			13	2317	-			731					A7MBM5|Q6NXG0|Q6ZRA1|Q6ZSF4|Q9NVB9	Silent	SNP	ENST00000381638.2	37	c.2193G>A	CCDS11043.1																																																																																				0.547	ZZEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207480.1	NM_015113		8	57	0	0	0	0.307466	0	8	57					T	3992020	C	T	3992020	2	4	41	1	0	0	0	0	0	0	0	1	18252	523	19	1		1	ZZEF1	17	3992020	Silent	SNP	C	TCGA-CH-5791-01A-11D-1576-08		3992020	77203190	48	2235											
AFG3L2	10939	broad.mit.edu	37	chr18	12340252	12340252	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agtcatcttgagcaccagttGtaattcttccaaagaagatt	13	13	7	8	0	3	3	1	1	2	2	4	3	4	3	2	0	1	3	2	0	3	6			TCGA-CH-5791-01A-11D-1576-08	TCGA-CH-5791-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f104f5f-f816-42cf-bdf5-65cbf9d7a5d4	8b462258-f66d-4893-a6f8-245278d1ce9d	g.chr18:12340252G>T	ENST00000269143.3	-	15	2159	c.1928C>A	c.(1927-1929)aCa>aAa	p.T643K		NM_006796.2	NP_006787.2	Q9Y4W6	AFG32_HUMAN	AFG3-like AAA ATPase 2	643					axonogenesis (GO:0007409)|cell death (GO:0008219)|cristae formation (GO:0042407)|mitochondrial fusion (GO:0008053)|mitochondrial protein processing (GO:0034982)|muscle fiber development (GO:0048747)|myelination (GO:0042552)|nerve development (GO:0021675)|neuromuscular junction development (GO:0007528)|regulation of multicellular organism growth (GO:0040014)|righting reflex (GO:0060013)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|metalloendopeptidase activity (GO:0004222)|unfolded protein binding (GO:0051082)|zinc ion binding (GO:0008270)	p.T643K(1)		NS(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(12)|prostate(3)|skin(1)|stomach(3)|urinary_tract(1)	27					Adenosine triphosphate(DB00171)	AGCACCAGTTGTAATTCTTCC	0.393																																						ENST00000269143.3																			1	Substitution - Missense(1)	p.T643K(1)	prostate(1)	NS(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(12)|prostate(3)|skin(1)|stomach(3)|urinary_tract(1)	27						c.(1927-1929)aCa>aAa		AFG3-like AAA ATPase 2	Adenosine triphosphate(DB00171)						148	143	144					18																	12340252		2203	4300	6503	SO:0001583	missense	10939				cell death|protein catabolic process|proteolysis	integral to membrane	ATP binding|metalloendopeptidase activity|nucleoside-triphosphatase activity|unfolded protein binding|zinc ion binding	g.chr18:12340252G>T	Y18314	CCDS11859.1	18p11.21	2014-09-17	2013-10-17		ENSG00000141385	ENSG00000141385		"ATPases / AAA-type"	315	protein-coding gene	gene with protein product		604581	"AFG3 (ATPase family gene 3, yeast)-like 2", "spinocerebellar ataxia 28", "AFG3 ATPase family gene 3-like 2 (yeast)", "AFG3 ATPase family gene 3-like 2 (S. cerevisiae)", "AFG3 ATPase family member 3-like 2 (S. cerevisiae)"	SCA28		10395799, 18769991	Standard	NM_006796		Approved	SPAX5	uc002kqz.2	Q9Y4W6	OTTHUMG00000131695	ENST00000269143.3:c.1928C>A	18.37:g.12340252G>T	ENSP00000269143:p.Thr643Lys						p.T643K	NM_006796.2	NP_006787.2	Q9Y4W6	AFG32_HUMAN			15	2159	-			643					Q6P1L0	Missense_Mutation	SNP	ENST00000269143.3	37	c.1928C>A	CCDS11859.1	.	.	.	.	.	.	.	.	.	.	G	33	5.222289	0.95139	.	.	ENSG00000141385	ENST00000269143;ENST00000537174	D	0.88046	-2.33	5.65	5.65	0.86999	Peptidase M41 (1);Peptidase M41, FtsH (2);	0.000000	0.85682	D	0.000000	D	0.96738	0.8935	H	0.98996	4.395	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.97840	1.0268	10	0.87932	D	0	-12.4141	20.0887	0.97806	0.0:0.0:1.0:0.0	.	643	Q9Y4W6	AFG32_HUMAN	K	643;658	ENSP00000269143:T643K	ENSP00000269143:T643K	T	-	2	0	AFG3L2	12330252	1.000000	0.71417	0.974000	0.42286	0.995000	0.86356	9.813000	0.99286	2.825000	0.97269	0.655000	0.94253	ACA		0.393	AFG3L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254603.2	NM_006796		10	272	1	0	2.17888e-05	0.335167	2.51125e-05	10	272					T	12340252	G	T	12340252	3	4	41	1	0	0	0	0	1	0	0	0	360	1377	48	5	477	5	AFG3L2	18	12340252	Missense_Mutation	SNP	G	TCGA-CH-5791-01A-11D-1576-08		12340252	65736996	49	2236											
SLC5A5	6528	broad.mit.edu	37	chr19	18001748	18001748	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgttgtggtgggacctcgcaCggcagacagcatcagtggcc	7	8	15	11	2	1	1	1	0	0	1	2	2	1	2	2	4	1	4	2	4	0	1	rs201835225	byFrequency	TCGA-CH-5791-01A-11D-1576-08	TCGA-CH-5791-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f104f5f-f816-42cf-bdf5-65cbf9d7a5d4	8b462258-f66d-4893-a6f8-245278d1ce9d	g.chr19:18001748C>T	ENST00000222248.3	+	14	2052	c.1705C>T	c.(1705-1707)Cgg>Tgg	p.R569W		NM_000453.2	NP_000444.1	Q92911	SC5A5_HUMAN	solute carrier family 5 (sodium/iodide cotransporter), member 5	569					cellular nitrogen compound metabolic process (GO:0034641)|cellular response to cAMP (GO:0071320)|cellular response to gonadotropin stimulus (GO:0071371)|iodide transport (GO:0015705)|ion transport (GO:0006811)|small molecule metabolic process (GO:0044281)|thyroid hormone generation (GO:0006590)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	iodide transmembrane transporter activity (GO:0015111)|sodium:iodide symporter activity (GO:0008507)	p.R569W(1)		NS(2)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|skin(3)	31						GGACCTCGCACGGCAGACAGC	0.602													C|||	3	0.000599042	0	0.0014	5008	,	,		15988	0		0.001	False		,,,				2504	0.001				Melanoma(65;1008 1708 7910 46650)	ENST00000222248.3																			1	Substitution - Missense(1)	p.R569W(1)	prostate(1)	NS(2)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|skin(3)	31						c.(1705-1707)Cgg>Tgg		solute carrier family 5 (sodium/iodide cotransporter), member 5		C	TRP/ARG	0,4406		0,0,2203	116	112	113		1705	1.2	0	19		113	1,8599	1.2+/-3.3	0,1,4299	yes	missense	SLC5A5	NM_000453.2	101	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	569/644	18001748	1,13005	2203	4300	6503	SO:0001583	missense	6528				cellular nitrogen compound metabolic process|cellular response to cAMP|cellular response to gonadotropin stimulus|hormone biosynthetic process	integral to membrane|nucleus|plasma membrane	iodide transmembrane transporter activity|sodium:iodide symporter activity	g.chr19:18001748C>T		CCDS12368.1	19p13.11	2013-07-19	2013-07-19		ENSG00000105641	ENSG00000105641		"Solute carriers"	11040	protein-coding gene	gene with protein product		601843	"solute carrier family 5 (sodium iodide symporter), member 5"			9231811	Standard	NM_000453		Approved	NIS	uc002nhr.4	Q92911		ENST00000222248.3:c.1705C>T	19.37:g.18001748C>T	ENSP00000222248:p.Arg569Trp						p.R569W	NM_000453.2	NP_000444.1	Q92911	SC5A5_HUMAN			14	2052	+			569					O43702|Q2M335|Q9NYB6	Missense_Mutation	SNP	ENST00000222248.3	37	c.1705C>T	CCDS12368.1	.	.	.	.	.	.	.	.	.	.	C	12.87	2.066877	0.36470	0.0	1.16E-4	ENSG00000105641	ENST00000222248	D	0.87029	-2.2	4.71	1.18	0.20946	.	22.923100	0.00166	N	0.000010	D	0.85026	0.5603	L	0.59436	1.845	0.09310	N	1	D	0.56521	0.976	B	0.42653	0.394	T	0.70561	-0.4838	10	0.54805	T	0.06	.	5.1415	0.14961	0.5241:0.3652:0.0:0.1107	.	569	Q92911	SC5A5_HUMAN	W	569	ENSP00000222248:R569W	ENSP00000222248:R569W	R	+	1	2	SLC5A5	17862748	0.002000	0.14202	0.002000	0.10522	0.663000	0.39108	0.255000	0.18333	0.148000	0.19059	0.491000	0.48974	CGG		0.602	SLC5A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466690.1			76	154	0	0	0	0.870114	0	76	154					T	18001748	C	T	18001748	3	4	41	1	0	0	0	0	1	0	0	0	14668	527	19	1	1759	1	SLC5A5	19	18001748	Missense_Mutation	SNP	C	TCGA-CH-5791-01A-11D-1576-08		18001748	41127235	50	2237											
SIGLEC1	6614	broad.mit.edu	37	chr20	3672817	3672817	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggatctggccctggagtcccGgaaggaggacaggacagcgt	9	5	17	10	2	1	0	0	0	1	0	2	6	2	6	2	7	1	0	2	7	1	0	rs149916347		TCGA-CH-5791-01A-11D-1576-08	TCGA-CH-5791-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f104f5f-f816-42cf-bdf5-65cbf9d7a5d4	8b462258-f66d-4893-a6f8-245278d1ce9d	g.chr20:3672817G>A	ENST00000344754.4	-	16	4062	c.4063C>T	c.(4063-4065)Cgg>Tgg	p.R1355W	SIGLEC1_ENST00000202578.4_Missense_Mutation_p.R1355W	NM_023068.3	NP_075556.1	Q9BZZ2	SN_HUMAN	sialic acid binding Ig-like lectin 1, sialoadhesin	1355	Ig-like C2-type 14.				cell-matrix adhesion (GO:0007160)|endocytosis (GO:0006897)|inflammatory response (GO:0006954)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of T cell apoptotic process (GO:0070234)|single organismal cell-cell adhesion (GO:0016337)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)	p.R1355W(1)		NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)	70						CTGGAGTCCCGGAAGGAGGAC	0.612																																						ENST00000344754.4																			1	Substitution - Missense(1)	p.R1355W(1)	prostate(1)	NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)	70						c.(4063-4065)Cgg>Tgg		sialic acid binding Ig-like lectin 1, sialoadhesin		G	TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	43	43	43		4063	-4	0.8	20	dbSNP_134	43	2,8598	2.2+/-6.3	0,2,4298	no	missense	SIGLEC1	NM_023068.3	101	0,3,6500	AA,AG,GG		0.0233,0.0227,0.0231	benign	1355/1710	3672817	3,13003	2203	4300	6503	SO:0001583	missense	6614				cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response	extracellular region|integral to membrane|plasma membrane	sugar binding	g.chr20:3672817G>A	AF230073	CCDS13060.1	20p13	2013-01-29	2006-01-19	2006-01-19	ENSG00000088827	ENSG00000088827		"CD molecules", "Sialic acid binding Ig-like lectins", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	11127	protein-coding gene	gene with protein product		600751	"sialoadhesin"	SN		8530048	Standard	XM_006723610		Approved	SIGLEC-1, CD169, FLJ00051, FLJ00055, FLJ00073, FLJ32150, dJ1009E24.1, sialoadhesin	uc002wja.3	Q9BZZ2	OTTHUMG00000031757	ENST00000344754.4:c.4063C>T	20.37:g.3672817G>A	ENSP00000341141:p.Arg1355Trp					SIGLEC1_ENST00000202578.4_Missense_Mutation_p.R1355W	p.R1355W	NM_023068.3	NP_075556.1	Q9BZZ2	SN_HUMAN			16	4062	-			1355			Ig-like C2-type 14.		Q96DL4|Q9GZS5|Q9H1H6|Q9H1H7|Q9H7L7	Missense_Mutation	SNP	ENST00000344754.4	37	c.4063C>T	CCDS13060.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.02|11.02	1.515043|1.515043	0.27123|0.27123	2.27E-4|2.27E-4	2.33E-4|2.33E-4	ENSG00000088827|ENSG00000088827	ENST00000419548|ENST00000344754;ENST00000202578	.|T;T	.|0.24350	.|1.88;1.86	5.5|5.5	-4.02|-4.02	0.04034|0.04034	.|.	.|1.321060	.|0.05760	.|N	.|0.604752	T|T	0.13200|0.13200	0.0320|0.0320	N|N	0.08118|0.08118	0|0	0.30118|0.30118	N|N	0.805944|0.805944	.|B;B	.|0.22909	.|0.077;0.062	.|B;B	.|0.16722	.|0.016;0.009	T|T	0.31447|0.31447	-0.9943|-0.9943	5|10	.|0.37606	.|T	.|0.19	.|.	11.6747|11.6747	0.51424|0.51424	0.7728:0.0:0.2272:0.0|0.7728:0.0:0.2272:0.0	.|.	.|1355;1355	.|Q9BZZ2;Q9BZZ2-3	.|SN_HUMAN;.	L|W	168|1355	.|ENSP00000341141:R1355W;ENSP00000202578:R1355W	.|ENSP00000202578:R1355W	P|R	-|-	2|1	0|2	SIGLEC1|SIGLEC1	3620817|3620817	0.272000|0.272000	0.24172|0.24172	0.821000|0.821000	0.32701|0.32701	0.253000|0.253000	0.25986|0.25986	0.052000|0.052000	0.14163|0.14163	-0.526000|-0.526000	0.06383|0.06383	0.655000|0.655000	0.94253|0.94253	CCG|CGG		0.612	SIGLEC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077761.2	NM_023068		13	30	0	0	0	0.479597	0	13	30					A	3672817	G	A	3672817	3	1	41	1	0	0	0	0	1	0	0	0	14305	1115	39	2	1090	2	SIGLEC1	20	3672817	Missense_Mutation	SNP	G	TCGA-CH-5791-01A-11D-1576-08		3672817	59352703	51	2238											
CXADR	1525	broad.mit.edu	37	chr21	18924180	18924180	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gatgcatcaataaatgtaacGaatttacaactgtcagatat	17	12	6	6	1	2	1	2	0	0	1	2	3	2	1	0	0	4	2	0	0	8	5			TCGA-CH-5791-01A-11D-1576-08	TCGA-CH-5791-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f104f5f-f816-42cf-bdf5-65cbf9d7a5d4	8b462258-f66d-4893-a6f8-245278d1ce9d	g.chr21:18924180G>A	ENST00000284878.7	+	3	1072	c.324G>A	c.(322-324)acG>acA	p.T108T	CXADR_ENST00000400165.1_Silent_p.T108T|CXADR_ENST00000400169.1_Silent_p.T108T|CXADR_ENST00000356275.6_Intron|CXADR_ENST00000306618.10_Silent_p.T108T|CXADR_ENST00000400166.1_Silent_p.T108T	NM_001338.4	NP_001329.1	P78310	CXAR_HUMAN	coxsackie virus and adenovirus receptor	108	Ig-like C2-type 1.				actin cytoskeleton reorganization (GO:0031532)|AV node cell to bundle of His cell communication (GO:0086067)|blood coagulation (GO:0007596)|cardiac muscle fiber development (GO:0048739)|cell-cell junction organization (GO:0045216)|defense response to virus (GO:0051607)|epithelial structure maintenance (GO:0010669)|gamma-delta T cell activation (GO:0046629)|germ cell migration (GO:0008354)|heart development (GO:0007507)|heterophilic cell-cell adhesion (GO:0007157)|homotypic cell-cell adhesion (GO:0034109)|leukocyte migration (GO:0050900)|mitochondrion organization (GO:0007005)|neutrophil chemotaxis (GO:0030593)|regulation of immune response (GO:0050776)|transepithelial transport (GO:0070633)|viral process (GO:0016032)	acrosomal vesicle (GO:0001669)|adherens junction (GO:0005912)|apicolateral plasma membrane (GO:0016327)|basolateral plasma membrane (GO:0016323)|cell body (GO:0044297)|cell junction (GO:0030054)|cell-cell junction (GO:0005911)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|filopodium (GO:0030175)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|membrane raft (GO:0045121)|neuromuscular junction (GO:0031594)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|tight junction (GO:0005923)	beta-catenin binding (GO:0008013)|cell adhesion molecule binding (GO:0050839)|connexin binding (GO:0071253)|identical protein binding (GO:0042802)|integrin binding (GO:0005178)|PDZ domain binding (GO:0030165)|receptor binding (GO:0005102)|virus receptor activity (GO:0001618)	p.T108T(2)		endometrium(2)|large_intestine(5)|lung(1)|ovary(1)|prostate(2)	11				Epithelial(23;0.000206)|all cancers(11;0.000302)|OV - Ovarian serous cystadenocarcinoma(11;0.0194)|Lung(58;0.0233)|COAD - Colon adenocarcinoma(22;0.0389)|Colorectal(24;0.0483)|LUSC - Lung squamous cell carcinoma(23;0.0782)		TAAATGTAACGAATTTACAAC	0.358																																						ENST00000284878.7																			2	Substitution - coding silent(2)	p.T108T(2)	large_intestine(1)|prostate(1)	endometrium(2)|large_intestine(5)|lung(1)|ovary(1)|prostate(2)	11						c.(322-324)acG>acA		coxsackie virus and adenovirus receptor							80	81	80					21																	18924180		2203	4300	6503	SO:0001819	synonymous_variant	1525				blood coagulation|cell adhesion|interspecies interaction between organisms|leukocyte migration|regulation of immune response	adherens junction|basolateral plasma membrane|extracellular region|integral to plasma membrane|nucleus|tight junction	receptor activity	g.chr21:18924180G>A	Y07593	CCDS33519.1, CCDS56204.1, CCDS56205.1, CCDS56206.1, CCDS56207.1	21q21.1	2013-01-29			ENSG00000154639	ENSG00000154639		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	2559	protein-coding gene	gene with protein product		602621				9036860, 9096397	Standard	NM_001338		Approved	CAR	uc002yki.3	P78310	OTTHUMG00000074508	ENST00000284878.7:c.324G>A	21.37:g.18924180G>A						CXADR_ENST00000400165.1_Silent_p.T108T|CXADR_ENST00000400169.1_Silent_p.T108T|CXADR_ENST00000356275.6_Intron|CXADR_ENST00000306618.10_Silent_p.T108T|CXADR_ENST00000400166.1_Silent_p.T108T	p.T108T	NM_001338.4	NP_001329.1	P78310	CXAR_HUMAN		Epithelial(23;0.000206)|all cancers(11;0.000302)|OV - Ovarian serous cystadenocarcinoma(11;0.0194)|Lung(58;0.0233)|COAD - Colon adenocarcinoma(22;0.0389)|Colorectal(24;0.0483)|LUSC - Lung squamous cell carcinoma(23;0.0782)	3	1072	+			108			Ig-like C2-type 1.		B2R8V8|B7WPI3|D3YHP0|O00694|Q8WWT6|Q8WWT7|Q8WWT8|Q9UKV4	Silent	SNP	ENST00000284878.7	37	c.324G>A	CCDS33519.1																																																																																				0.358	CXADR-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000158209.1			20	149	0	0	0	0.592651	0	20	149					A	18924180	G	A	18924180	2	1	41	1	0	0	0	0	0	0	0	1	4076	1045	37	2		2	CXADR	21	18924180	Silent	SNP	G	TCGA-CH-5791-01A-11D-1576-08		18924180	29205715	52	2239											
SDF2L1	23753	broad.mit.edu	37	chr22	21997279	21997279	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgcgggcaggcggtgaggCtcacgcatgtgcttacgggc	5	7	18	11	4	1	1	1	1	0	0	1	1	1	1	0	5	3	5	0	5	1	1			TCGA-CH-5791-01A-11D-1576-08	TCGA-CH-5791-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f104f5f-f816-42cf-bdf5-65cbf9d7a5d4	8b462258-f66d-4893-a6f8-245278d1ce9d	g.chr22:21997279C>T	ENST00000248958.4	+	2	392	c.316C>T	c.(316-318)Ctc>Ttc	p.L106F	KB-1440D3.14_ENST00000609038.1_lincRNA	NM_022044.2	NP_071327.2	Q9HCN8	SDF2L_HUMAN	stromal cell-derived factor 2-like 1	106	MIR 2. {ECO:0000255|PROSITE- ProRule:PRU00131}.					endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)		p.L106F(1)		prostate(1)	1	Colorectal(54;0.105)					GGCGGTGAGGCTCACGCATGT	0.706											OREG0026342	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000248958.4																			1	Substitution - Missense(1)	p.L106F(1)	prostate(1)	prostate(1)	1						c.(316-318)Ctc>Ttc		stromal cell-derived factor 2-like 1							9	10	10					22																	21997279		2139	4187	6326	SO:0001583	missense	23753					endoplasmic reticulum lumen|membrane		g.chr22:21997279C>T		CCDS13792.1	22q11.21	2008-07-01			ENSG00000128228	ENSG00000128228			10676	protein-coding gene	gene with protein product	"dihydropyrimidinase-like 2", "PWP1-interacting protein 8"	607551				10591208, 11162531	Standard	NM_022044		Approved	AP000553.C22.4, OTTHUMT00000075032	uc002zvf.3	Q9HCN8	OTTHUMG00000150820	ENST00000248958.4:c.316C>T	22.37:g.21997279C>T	ENSP00000248958:p.Leu106Phe		OREG0026342	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	752		p.L106F	NM_022044.2	NP_071327.2	Q9HCN8	SDF2L_HUMAN			2	392	+	Colorectal(54;0.105)		106			MIR 2.		A2RUD3|Q9BRI5	Missense_Mutation	SNP	ENST00000248958.4	37	c.316C>T	CCDS13792.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.972210	0.74246	.	.	ENSG00000128228	ENST00000248958	D	0.93366	-3.21	4.46	4.46	0.54185	MIR motif (2);MIR (2);	0.057754	0.64402	D	0.000001	D	0.96901	0.8988	M	0.88512	2.96	0.58432	D	0.999999	D	0.76494	0.999	D	0.79784	0.993	D	0.97201	0.9864	10	0.59425	D	0.04	-19.8029	14.9671	0.71201	0.0:1.0:0.0:0.0	.	106	Q9HCN8	SDF2L_HUMAN	F	106	ENSP00000248958:L106F	ENSP00000248958:L106F	L	+	1	0	SDF2L1	20327279	0.997000	0.39634	0.996000	0.52242	0.412000	0.31113	2.019000	0.41001	2.464000	0.83262	0.462000	0.41574	CTC		0.706	SDF2L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320197.1	NM_022044		2	4	0	0	0	0.115264	0	2	4					T	21997279	C	T	21997279	3	4	41	1	0	0	0	0	1	0	0	0	13961	797	28	3	322	3	SDF2L1	22	21997279	Missense_Mutation	SNP	C	TCGA-CH-5791-01A-11D-1576-08		21997279	29307287	53	2240											
PPEF1	5475	broad.mit.edu	37	chrX	18842131	18842131	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cctcagttcgaatctggtaaAcatagaccaaaatggaaacg	16	8	8	9	2	2	1	1	0	1	1	3	3	2	2	2	2	2	2	2	2	7	3			TCGA-CH-5791-01A-11D-1576-08	TCGA-CH-5791-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f104f5f-f816-42cf-bdf5-65cbf9d7a5d4	8b462258-f66d-4893-a6f8-245278d1ce9d	g.chrX:18842131A>G	ENST00000361511.4	+	17	2086	c.1592A>G	c.(1591-1593)aAc>aGc	p.N531S	PPEF1_ENST00000359763.6_Missense_Mutation_p.N478S|PPEF1_ENST00000544635.1_Missense_Mutation_p.N466S|PPEF1_ENST00000543630.1_3'UTR|PPEF1_ENST00000349874.5_Missense_Mutation_p.N469S	NM_006240.2|NM_152224.1	NP_006231.2|NP_689410.1	O14829	PPE1_HUMAN	protein phosphatase, EF-hand calcium binding domain 1	531					detection of stimulus involved in sensory perception (GO:0050906)|phototransduction, visible light (GO:0007603)|protein dephosphorylation (GO:0006470)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)	cytosol (GO:0005829)	calcium ion binding (GO:0005509)|iron ion binding (GO:0005506)|manganese ion binding (GO:0030145)|protein serine/threonine phosphatase activity (GO:0004722)	p.N531S(1)		breast(3)|endometrium(6)|kidney(2)|large_intestine(8)|lung(19)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	43	Hepatocellular(33;0.183)					AATCTGGTAAACATAGACCAA	0.423																																						ENST00000361511.4																			1	Substitution - Missense(1)	p.N531S(1)	prostate(1)	breast(3)|endometrium(6)|kidney(2)|large_intestine(8)|lung(19)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	43						c.(1591-1593)aAc>aGc		protein phosphatase, EF-hand calcium binding domain 1							182	157	165					X																	18842131		2203	4300	6503	SO:0001583	missense	5475				detection of stimulus involved in sensory perception|protein dephosphorylation		calcium ion binding|iron ion binding|manganese ion binding|protein binding|protein serine/threonine phosphatase activity	g.chrX:18842131A>G	BC036026	CCDS14188.1, CCDS43920.1	Xp22	2013-01-10			ENSG00000086717	ENSG00000086717		"Serine/threonine phosphatases / Protein phosphatase, catalytic subunits", "EF-hand domain containing"	9243	protein-coding gene	gene with protein product	"protein phosphatase 7, catalytic subunit, alpha isozyme"	300109		PPEF		9215685, 9326663	Standard	NM_152224		Approved	PPP7CA	uc004cyq.3	O14829	OTTHUMG00000021219	ENST00000361511.4:c.1592A>G	X.37:g.18842131A>G	ENSP00000354871:p.Asn531Ser					PPEF1_ENST00000349874.5_Missense_Mutation_p.N469S|PPEF1_ENST00000543630.1_3'UTR|PPEF1_ENST00000359763.6_Missense_Mutation_p.N478S|PPEF1_ENST00000544635.1_Missense_Mutation_p.N466S	p.N531S	NM_006240.2|NM_152224.1	NP_006231.2|NP_689410.1	O14829	PPE1_HUMAN			17	2086	+	Hepatocellular(33;0.183)		531					A6NHP4|A8K348|O15253|Q9NU21|Q9UJH0	Missense_Mutation	SNP	ENST00000361511.4	37	c.1592A>G	CCDS14188.1	.	.	.	.	.	.	.	.	.	.	A	2.790	-0.251466	0.05867	.	.	ENSG00000086717	ENST00000361511;ENST00000359763;ENST00000349874;ENST00000544635	T;T;T;T	0.39997	1.05;1.05;1.05;1.05	5.58	-4.88	0.03113	.	1.770780	0.02624	N	0.103504	T	0.18467	0.0443	N	0.12182	0.205	0.09310	N	1	B;B;B	0.10296	0.003;0.001;0.001	B;B;B	0.10450	0.005;0.001;0.003	T	0.15321	-1.0441	10	0.07175	T	0.84	-0.0287	2.8424	0.05533	0.2258:0.4488:0.1386:0.1868	.	469;531;503	O14829-5;O14829;O14829-3	.;PPE1_HUMAN;.	S	531;478;469;466	ENSP00000354871:N531S;ENSP00000352806:N478S;ENSP00000341892:N469S;ENSP00000441289:N466S	ENSP00000341892:N469S	N	+	2	0	PPEF1	18752052	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.092000	0.15066	-0.867000	0.04063	-1.500000	0.00958	AAC		0.423	PPEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055953.3	NM_006240		97	51	0	0	0	0.870114	0	97	51					G	18842131	A	G	18842131	3	3	41	1	0	0	0	0	1	0	0	0	12307	43	2	4	1646	4	PPEF1	23	18842131	Missense_Mutation	SNP	A	TCGA-CH-5791-01A-11D-1576-08		18842131	136428429	54	2241											
NUDT11	55190	broad.mit.edu	37	chrX	51239296	51239309	+	Start_Codon_Del	DEL	TCCTCGAGGCAGCC	TCCTCGAGGCAGCC	-																															ctggttgggtttgcacttcaTcctcgaggcagcctcctcga																								rs78182391		TCGA-CH-5791-01A-11D-1576-08	TCGA-CH-5791-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f104f5f-f816-42cf-bdf5-65cbf9d7a5d4	8b462258-f66d-4893-a6f8-245278d1ce9d	g.chrX:51239296_51239309delTCCTCGAGGCAGCC	ENST00000375992.3	-	0	139_152					NM_018159.3	NP_060629.2	Q96G61	NUD11_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 11						inositol phosphate metabolic process (GO:0043647)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|intracellular (GO:0005622)	diphosphoinositol-polyphosphate diphosphatase activity (GO:0008486)|inositol diphosphate tetrakisphosphate diphosphatase activity (GO:0052840)|inositol-1,5-bisdiphosphate-2,3,4,6-tetrakisphosphate 1-diphosphatase activity (GO:0052846)|inositol-1,5-bisdiphosphate-2,3,4,6-tetrakisphosphate 5-diphosphatase activity (GO:0052847)|inositol-1-diphosphate-2,3,4,5,6-pentakisphosphate diphosphatase activity (GO:0052843)|inositol-3,5-bisdiphosphate-2,3,4,6-tetrakisphosphate 5-diphosphatase activity (GO:0052848)|inositol-3-diphosphate-1,2,4,5,6-pentakisphosphate diphosphatase activity (GO:0052844)|inositol-5-diphosphate-1,2,3,4,6-pentakisphosphate diphosphatase activity (GO:0052845)|metal ion binding (GO:0046872)	p.?(5)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|upper_aerodigestive_tract(2)	9	Ovarian(276;0.236)					TTGCACTTCATCCTCGAGGCAGCCTCCTCGAGGC	0.692										HNSCC(48;0.14)				2406	0.637351	0.497	0.4928	3775	,	,		5662	0.4464		0.4553	False		,,,				2504	0.5102				GBM(38;198 791 1498 11752 13599)	ENST00000375992.3																			5	Unknown(5)	p.?(5)	upper_aerodigestive_tract(2)|prostate(1)|breast(1)|central_nervous_system(1)	breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|upper_aerodigestive_tract(2)	9								nudix (nucleoside diphosphate linked moiety X)-type motif 11				1710,202		758,11,183,87,17						3	1		dbSNP_131	12	3133,173		1220,1,692,66,40	no	frameshift	NUDT11	NM_018159.3		1978,12,875,153,57	A1A1,A1R,A1,RR,R		5.2329,10.5649,7.1867				4843,375				SO:0001582	initiator_codon_variant	0					cytoplasm	diphosphoinositol-polyphosphate diphosphatase activity|metal ion binding	g.chrX:51239296_51239309delTCCTCGAGGCAGCC	AK001490	CCDS43952.1	Xp11.22-p11.1	2014-05-20			ENSG00000196368	ENSG00000196368		"Nudix motif containing"	18011	protein-coding gene	gene with protein product						12105228	Standard	NM_018159		Approved	DIPP3b, FLJ10628, hDIPP3beta	uc010njt.3	Q96G61	OTTHUMG00000021531		X.37:g.51239296_51239309delTCCTCGAGGCAGCC		HNSCC(48;0.14)						NM_018159.3	NP_060629.2	Q96G61	NUD11_HUMAN			0	139_152	-	Ovarian(276;0.236)							Q9NVN0	Translation_Start_Site	DEL	ENST00000375992.3	37		CCDS43952.1																																																																																				0.692	NUDT11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056579.1			4	7						4	7	---	---	---	---	-	51239309	TCCTCGAGGCAGCC	-	51239296	7	5	41	1	0	1	0	1	0	0	0	0	10727	1435	50	0	501	0	NUDT11	23	51239296	Start_Codon_Del	DEL	TCCTCGAGGCAGCC	TCGA-CH-5791-01A-11D-1576-08	32397165	51239296	104031264	55	2242											
PGM1	5236	broad.mit.edu	37	chr1	64089265	64089265	+	Intron	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tggattacggaagaaaacctAttattttgaggaaaagccat	16	11	9	5	1	0	2	0	1	0	1	0	5	0	5	2	3	3	0	2	3	8	5			TCGA-CH-5792-01A-11D-1576-08	TCGA-CH-5792-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9447bfdb-8772-4a94-a7e5-9b95f205b262	2f8846f4-bd22-447a-b4c3-4fc9049b5a21	g.chr1:64089265A>G	ENST00000371084.3	+	2	459				PGM1_ENST00000540265.1_Intron|PGM1_ENST00000371083.4_Missense_Mutation_p.Y45C	NM_002633.2	NP_002624.2	P36871	PGM1_HUMAN	phosphoglucomutase 1						carbohydrate metabolic process (GO:0005975)|galactose catabolic process (GO:0019388)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|glycogen catabolic process (GO:0005980)|glycolytic process (GO:0006096)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	magnesium ion binding (GO:0000287)|phosphoglucomutase activity (GO:0004614)	p.Y45C(1)		breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20						AAGAAAACCTATTATTTTGAG	0.418																																						ENST00000371083.4																			1	Substitution - Missense(1)	p.Y45C(1)	prostate(1)	breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20						c.(133-135)tAt>tGt		phosphoglucomutase 1							102	103	103					1																	64089265		876	1991	2867	SO:0001627	intron_variant	5236				cellular calcium ion homeostasis|galactose catabolic process|glucose 1-phosphate metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol	magnesium ion binding|phosphoglucomutase activity	g.chr1:64089265A>G	BC019920	CCDS625.1, CCDS53323.1, CCDS53324.1	1p22.1	2012-10-02			ENSG00000079739	ENSG00000079739	5.4.2.2		8905	protein-coding gene	gene with protein product		171900				4517931, 1530890	Standard	NM_002633		Approved		uc010ooz.2	P36871	OTTHUMG00000008968	ENST00000371084.3:c.247-5831A>G	1.37:g.64089265A>G						PGM1_ENST00000540265.1_Intron|PGM1_ENST00000371084.3_Intron	p.Y45C	NM_001172818.1	NP_001166289.1	P36871	PGM1_HUMAN			1	502	+			27					B2R5N9|B4DPV0|Q16105|Q16106|Q5BKZ9|Q6NW22|Q86U74|Q96J40|Q9NTY4	Missense_Mutation	SNP	ENST00000371084.3	37	c.134A>G	CCDS625.1	.	.	.	.	.	.	.	.	.	.	A	8.790	0.930407	0.18131	.	.	ENSG00000079739	ENST00000371083	T	0.62941	-0.01	4.83	0.96	0.19631	.	.	.	.	.	T	0.15435	0.0372	N	0.08118	0	0.09310	N	0.999997	B	0.06786	0.001	B	0.04013	0.001	T	0.19160	-1.0314	9	0.72032	D	0.01	-39.8945	0.9057	0.01284	0.4735:0.1311:0.1429:0.2526	.	45	P36871-2	.	C	45	ENSP00000360124:Y45C	ENSP00000360124:Y45C	Y	+	2	0	PGM1	63861853	0.000000	0.05858	0.777000	0.31699	0.989000	0.77384	-0.134000	0.10436	0.046000	0.15833	0.455000	0.32223	TAT		0.418	PGM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024868.1	NM_002633		29	117	0	0	0	1	0	29	117					G	64089265	A	G	64089265	1	3	42	0	1	0	0	0	0	0	0	0	11797	449	16	4		4	PGM1	1	64089265	Intron	SNP	A	TCGA-CH-5792-01A-11D-1576-08		64089265	185161356	1	2243											
OR10Z1	128368	broad.mit.edu	37	chr1	158576873	158576873	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtctccttcttcttcatcacCatctcctacgcctacatctt	6	16	2	17	1	7	0	2	0	5	0	9	0	7	0	4	0	2	0	4	0	2	6			TCGA-CH-5792-01A-11D-1576-08	TCGA-CH-5792-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9447bfdb-8772-4a94-a7e5-9b95f205b262	2f8846f4-bd22-447a-b4c3-4fc9049b5a21	g.chr1:158576873C>T	ENST00000361284.1	+	1	645	c.645C>T	c.(643-645)acC>acT	p.T215T		NM_001004478.1	NP_001004478.1	Q8NGY1	O10Z1_HUMAN	olfactory receptor, family 10, subfamily Z, member 1	215						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.T215T(1)		endometrium(2)|large_intestine(6)|lung(21)|pancreas(1)|prostate(3)|skin(4)	37	all_hematologic(112;0.0378)					TCTTCATCACCATCTCCTACG	0.537																																						ENST00000361284.1																			1	Substitution - coding silent(1)	p.T215T(1)	prostate(1)	endometrium(2)|large_intestine(6)|lung(21)|pancreas(1)|prostate(3)|skin(4)	37						c.(643-645)acC>acT		olfactory receptor, family 10, subfamily Z, member 1							154	139	144					1																	158576873		2203	4300	6503	SO:0001819	synonymous_variant	128368				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158576873C>T	AB065635	CCDS30901.1	1q23.1	2012-08-23			ENSG00000198967	ENSG00000198967		"GPCR / Class A : Olfactory receptors"	14996	protein-coding gene	gene with protein product							Standard	NM_001004478		Approved		uc010pio.2	Q8NGY1	OTTHUMG00000019637	ENST00000361284.1:c.645C>T	1.37:g.158576873C>T							p.T215T	NM_001004478.1	NP_001004478.1	Q8NGY1	O10Z1_HUMAN			1	645	+	all_hematologic(112;0.0378)		215					Q5VYL0|Q6IFR7	Silent	SNP	ENST00000361284.1	37	c.645C>T	CCDS30901.1																																																																																				0.537	OR10Z1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051853.1	NM_001004478		28	267	0	0	0	1	0	28	267					T	158576873	C	T	158576873	2	4	42	1	0	0	0	0	0	0	0	1	10923	581	21	3		3	OR10Z1	1	158576873	Silent	SNP	C	TCGA-CH-5792-01A-11D-1576-08	94487608	158576873	90673748	2	2244											
RNASEL	6041	broad.mit.edu	37	chr1	182550489	182550489	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acattccgaagcgtcctataGcggctgaagatgactaaatg	13	9	10	9	3	0	3	0	2	0	1	2	4	2	3	2	1	2	1	2	1	6	4			TCGA-CH-5792-01A-11D-1576-08	TCGA-CH-5792-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9447bfdb-8772-4a94-a7e5-9b95f205b262	2f8846f4-bd22-447a-b4c3-4fc9049b5a21	g.chr1:182550489G>A	ENST00000367559.3	-	5	2029	c.1776C>T	c.(1774-1776)cgC>cgT	p.R592R	RNASEL_ENST00000539397.1_Silent_p.R592R|RNASEL_ENST00000444138.1_Silent_p.R592R	NM_021133.3	NP_066956.1	Q05823	RN5A_HUMAN	ribonuclease L (2',5'-oligoisoadenylate synthetase-dependent)	592	KEN. {ECO:0000255|PROSITE- ProRule:PRU00725}.		R -> H (in dbSNP:rs35896902). {ECO:0000269|PubMed:17344846}.		cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|mRNA processing (GO:0006397)|negative regulation of viral genome replication (GO:0045071)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|rRNA processing (GO:0006364)|type I interferon signaling pathway (GO:0060337)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nuclear matrix (GO:0016363)	ATP binding (GO:0005524)|endoribonuclease activity (GO:0004521)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|RNA binding (GO:0003723)|rRNA binding (GO:0019843)	p.R592R(2)		NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(9)|ovary(4)|prostate(1)|stomach(1)|urinary_tract(1)	27						GCGTCCTATAGCGGCTGAAGA	0.413																																						ENST00000367559.3																			2	Substitution - coding silent(2)	p.R592R(2)	prostate(2)	NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(9)|ovary(4)|prostate(1)|stomach(1)|urinary_tract(1)	27						c.(1774-1776)cgC>cgT		ribonuclease L (2',5'-oligoisoadenylate synthetase-dependent)							191	181	185					1																	182550489		2203	4300	6503	SO:0001819	synonymous_variant	6041				mRNA processing|response to virus|type I interferon-mediated signaling pathway	mitochondrion	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|metal ion binding|protein kinase activity|RNA binding	g.chr1:182550489G>A	L10381	CCDS1347.1	1q25	2013-01-10			ENSG00000135828	ENSG00000135828	3.1.26.-	"Ankyrin repeat domain containing"	10050	protein-coding gene	gene with protein product		180435	"prostate cancer 1"	RNS4, PRCA1		7514564	Standard	NM_021133		Approved		uc009wxz.2	Q05823	OTTHUMG00000035213	ENST00000367559.3:c.1776C>T	1.37:g.182550489G>A						RNASEL_ENST00000444138.1_Silent_p.R592R|RNASEL_ENST00000539397.1_Silent_p.R592R	p.R592R	NM_021133.3	NP_066956.1	Q05823	RN5A_HUMAN			5	2029	-			592		R -> H (in dbSNP:rs35896902).	KEN.		Q5W0L2|Q6AI46	Silent	SNP	ENST00000367559.3	37	c.1776C>T	CCDS1347.1																																																																																				0.413	RNASEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085189.1	NM_021133		46	187	0	0	0	1	0	46	187					A	182550489	G	A	182550489	2	1	42	1	0	0	0	0	0	0	0	1	13416	958	34	3		3	RNASEL	1	182550489	Silent	SNP	G	TCGA-CH-5792-01A-11D-1576-08	23973616	182550489	66700132	3	2245											
ATP2B4	493	broad.mit.edu	37	chr1	203682293	203682293	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gtgtggtctggtgttggcagGtagagcaagaaaagctggac	10	9	17	5	0	1	2	0	0	1	2	1	3	1	3	0	5	2	5	0	5	4	2			TCGA-CH-5792-01A-11D-1576-08	TCGA-CH-5792-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9447bfdb-8772-4a94-a7e5-9b95f205b262	2f8846f4-bd22-447a-b4c3-4fc9049b5a21	g.chr1:203682293G>A	ENST00000357681.5	+	14	3335	c.2212G>A	c.(2212-2214)Gta>Ata	p.V738I	ATP2B4_ENST00000341360.2_Splice_Site_p.V738I|ATP2B4_ENST00000367218.3_Splice_Site_p.V738I|ATP2B4_ENST00000367219.3_Splice_Site_p.V726I|ATP2B4_ENST00000391954.2_Splice_Site_p.V738I	NM_001684.4	NP_001675.3	P23634	AT2B4_HUMAN	ATPase, Ca++ transporting, plasma membrane 4	738					blood coagulation (GO:0007596)|calcium ion homeostasis (GO:0055074)|calcium ion import across plasma membrane (GO:0098703)|calcium ion transmembrane transport (GO:0070588)|cellular calcium ion homeostasis (GO:0006874)|cellular response to epinephrine stimulus (GO:0071872)|ion transmembrane transport (GO:0034220)|negative regulation of adrenergic receptor signaling pathway involved in heart process (GO:1901205)|negative regulation of arginine catabolic process (GO:1900082)|negative regulation of calcineurin-NFAT signaling cascade (GO:0070885)|negative regulation of cardiac muscle hypertrophy in response to stress (GO:1903243)|negative regulation of citrulline biosynthetic process (GO:1903249)|negative regulation of nitric oxide biosynthetic process (GO:0045019)|negative regulation of nitric oxide mediated signal transduction (GO:0010751)|negative regulation of nitric-oxide synthase activity (GO:0051001)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of the force of heart contraction (GO:0098736)|positive regulation of cAMP-dependent protein kinase activity (GO:2000481)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of sodium ion transmembrane transport (GO:1902305)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to hydrostatic pressure (GO:0051599)|transmembrane transport (GO:0055085)	caveola (GO:0005901)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|calmodulin binding (GO:0005516)|metal ion binding (GO:0046872)|nitric-oxide synthase binding (GO:0050998)|protein phosphatase 2B binding (GO:0030346)|scaffold protein binding (GO:0097110)	p.V738I(2)		NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(20)|ovary(2)|prostate(6)|skin(1)|stomach(1)|urinary_tract(3)	56	all_cancers(21;0.071)|all_epithelial(62;0.228)		BRCA - Breast invasive adenocarcinoma(75;0.109)			GTGTTGGCAGGTAGAGCAAGA	0.502																																						ENST00000357681.5																			2	Substitution - Missense(2)	p.V738I(2)	prostate(2)	NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(20)|ovary(2)|prostate(6)|skin(1)|stomach(1)|urinary_tract(3)	56						c.e14-1		ATPase, Ca++ transporting, plasma membrane 4							210	196	201					1																	203682293		2203	4300	6503	SO:0001630	splice_region_variant	493				ATP biosynthetic process|platelet activation	integral to plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding	g.chr1:203682293G>A	M25874	CCDS1440.1, CCDS30977.1	1q32.1	2010-04-20	2005-05-26		ENSG00000058668	ENSG00000058668	3.6.3.8	"ATPases / P-type"	817	protein-coding gene	gene with protein product	"plasma membrane calcium-transporting ATPase 4"	108732	"matrix-remodelling associated 1"	ATP2B2, MXRA1		1674727	Standard	NM_001001396		Approved	PMCA4	uc001gzw.3	P23634	OTTHUMG00000035906	ENST00000357681.5:c.2212-1G>A	1.37:g.203682293G>A						ATP2B4_ENST00000367218.3_Splice_Site_p.V738_splice|ATP2B4_ENST00000341360.2_Splice_Site_p.V738_splice|ATP2B4_ENST00000367219.3_Splice_Site_p.V726_splice|ATP2B4_ENST00000391954.2_Splice_Site_p.V738_splice	p.V738_splice	NM_001684.4	NP_001675.3	P23634	AT2B4_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.109)		14	3335	+	all_cancers(21;0.071)|all_epithelial(62;0.228)		738					B1APW5|B1APW6|Q13450|Q13452|Q13455|Q16817|Q7Z3S1	Splice_Site	SNP	ENST00000357681.5	37	c.2211_splice	CCDS1440.1	.	.	.	.	.	.	.	.	.	.	G	12.31	1.898334	0.33535	.	.	ENSG00000058668	ENST00000357681;ENST00000367218;ENST00000367219;ENST00000391954;ENST00000341360	D;D;D;D;D	0.96940	-4.18;-4.18;-4.18;-4.18;-4.18	5.2	5.2	0.72013	Haloacid dehalogenase-like hydrolase (1);HAD-like domain (1);ATPase, P-type,  transmembrane domain (1);	0.000000	0.42964	D	0.000637	D	0.93703	0.7988	N	0.11870	0.19	0.80722	D	1	P;B;P	0.43701	0.815;0.006;0.509	P;B;P	0.49332	0.607;0.015;0.507	D	0.92929	0.6362	9	.	.	.	-17.7199	18.3579	0.90364	0.0:0.0:1.0:0.0	.	738;738;738	P23634;P23634-6;B1APW5	AT2B4_HUMAN;.;.	I	738;738;726;738;738	ENSP00000350310:V738I;ENSP00000356187:V738I;ENSP00000356188:V726I;ENSP00000375816:V738I;ENSP00000340930:V738I	.	V	+	1	0	ATP2B4	201948916	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.842000	0.48230	2.429000	0.82318	0.650000	0.86243	GTA		0.502	ATP2B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087462.1	NM_001001396	Missense_Mutation	34	153	0	0	0	1	0	34	153					A	203682293	G	A	203682293	5	1	42	1	0	0	0	0	0	0	1	0	1142	1275	44	3	2262	3	ATP2B4	1	203682293	Splice_Site	SNP	G	TCGA-CH-5792-01A-11D-1576-08	21131804	203682293	45568328	4	2246											
KLF11	8462	broad.mit.edu	37	chr2	10188711	10188711	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccaccttaaggcccatcttcGcactcacacaggtaagcgct	10	8	7	16	2	2	0	1	0	1	0	3	0	2	0	3	2	1	3	3	2	2	3			TCGA-CH-5792-01A-11D-1576-08	TCGA-CH-5792-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9447bfdb-8772-4a94-a7e5-9b95f205b262	2f8846f4-bd22-447a-b4c3-4fc9049b5a21	g.chr2:10188711G>A	ENST00000305883.1	+	3	1409	c.1247G>A	c.(1246-1248)cGc>cAc	p.R416H	KLF11_ENST00000540845.1_Missense_Mutation_p.R399H|KLF11_ENST00000535335.1_Missense_Mutation_p.R399H	NM_003597.4	NP_003588.1	O14901	KLF11_HUMAN	Kruppel-like factor 11	416					apoptotic process (GO:0006915)|cellular response to peptide (GO:1901653)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of apoptotic process (GO:0043065)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)	p.R416H(2)		endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.133)|OV - Ovarian serous cystadenocarcinoma(76;0.228)		GCCCATCTTCGCACTCACACA	0.567											OREG0014425	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									Melanoma(56;431 1507 23687 50789)	ENST00000535335.1																			2	Substitution - Missense(2)	p.R416H(2)	prostate(2)	endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16						c.(1195-1197)cGc>cAc		Kruppel-like factor 11							52	51	52					2																	10188711		2198	4297	6495	SO:0001583	missense	8462				apoptosis|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|regulation of transcription involved in S phase of mitotic cell cycle	nucleus	sequence-specific DNA binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr2:10188711G>A	AF028008	CCDS1668.1, CCDS54333.1	2p25	2013-01-08	2004-11-29	2004-12-01	ENSG00000172059	ENSG00000172059		"Kruppel-like transcription factors", "Zinc fingers, C2H2-type"	11811	protein-coding gene	gene with protein product		603301	"TGFB inducible early growth response 2"	TIEG2		9748269, 11087666	Standard	NM_001177716		Approved	Tieg3, MODY7	uc002raf.1	O14901	OTTHUMG00000119004	ENST00000305883.1:c.1247G>A	2.37:g.10188711G>A	ENSP00000307023:p.Arg416His		OREG0014425	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	662	KLF11_ENST00000540845.1_Missense_Mutation_p.R399H|KLF11_ENST00000305883.1_Missense_Mutation_p.R416H	p.R399H	NM_001177718.1	NP_001171189.1	O14901	KLF11_HUMAN		Epithelial(75;0.133)|OV - Ovarian serous cystadenocarcinoma(76;0.228)	3	1412	+	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		416					B4DZE7|Q9EPF4	Missense_Mutation	SNP	ENST00000305883.1	37	c.1196G>A	CCDS1668.1	.	.	.	.	.	.	.	.	.	.	G	24.6	4.552136	0.86127	.	.	ENSG00000172059	ENST00000305883;ENST00000540845;ENST00000535335	T;T;T	0.25749	1.78;1.78;1.78	5.51	4.62	0.57501	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.36580	0.0972	M	0.82517	2.595	0.80722	D	1	P	0.49090	0.919	B	0.43360	0.417	T	0.41070	-0.9529	9	.	.	.	.	14.7163	0.69272	0.0713:0.0:0.9287:0.0	.	416	O14901	KLF11_HUMAN	H	416;399;399	ENSP00000307023:R416H;ENSP00000444690:R399H;ENSP00000442722:R399H	.	R	+	2	0	KLF11	10106162	1.000000	0.71417	1.000000	0.80357	0.802000	0.45316	7.997000	0.88414	2.591000	0.87537	0.205000	0.17691	CGC		0.567	KLF11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000239202.3	NM_003597		27	82	0	0	0	1	0	27	82					A	10188711	G	A	10188711	3	1	42	1	0	0	0	0	1	0	0	0	8339	1087	38	1	1257	1	KLF11	2	10188711	Missense_Mutation	SNP	G	TCGA-CH-5792-01A-11D-1576-08		10188711	233010662	5	2247											
LHCGR	3973	broad.mit.edu	37	chr2	48915655	48915655	+	Nonsense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgccagtctatggcatggttAtagtactggcccttggtttg	6	15	12	8	0	1	0	0	0	1	0	1	0	1	0	2	4	2	4	2	4	4	6			TCGA-CH-5792-01A-11D-1576-08	TCGA-CH-5792-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9447bfdb-8772-4a94-a7e5-9b95f205b262	2f8846f4-bd22-447a-b4c3-4fc9049b5a21	g.chr2:48915655A>T	ENST00000294954.7	-	11	1302	c.1281T>A	c.(1279-1281)taT>taA	p.Y427*	STON1-GTF2A1L_ENST00000402114.2_Intron|LHCGR_ENST00000344775.3_Nonsense_Mutation_p.Y365*|LHCGR_ENST00000403273.1_3'UTR|LHCGR_ENST00000401907.1_Intron|LHCGR_ENST00000405626.1_Nonsense_Mutation_p.Y400*	NM_000233.3	NP_000224.2	P22888	LSHR_HUMAN	luteinizing hormone/choriogonadotropin receptor	427					activation of adenylate cyclase activity (GO:0007190)|cellular response to gonadotropin stimulus (GO:0071371)|cognition (GO:0050890)|development of secondary male sexual characteristics (GO:0046544)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|male genitalia development (GO:0030539)|male gonad development (GO:0008584)|ovarian follicle development (GO:0001541)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of inositol trisphosphate biosynthetic process (GO:0032962)|regulation of steroid hormone biosynthetic process (GO:0090030)|seminiferous tubule development (GO:0072520)|spermatogenesis (GO:0007283)|uterus development (GO:0060065)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	choriogonadotropin hormone binding (GO:0038106)|choriogonadotropin hormone receptor activity (GO:0035472)|luteinizing hormone receptor activity (GO:0004964)	p.Y427*(1)		NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(3)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	56		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Buserelin(DB06719)|Cetrorelix(DB00050)|Choriogonadotropin alfa(DB00097)|Goserelin(DB00014)|Lutropin alfa(DB00044)|Menotropins(DB00032)	TGGCATGGTTATAGTACTGGC	0.493																																						ENST00000294954.7																			1	Substitution - Nonsense(1)	p.Y427*(1)	prostate(1)	NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(3)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	56						c.(1279-1281)taT>taA		luteinizing hormone/choriogonadotropin receptor	Cetrorelix(DB00050)|Choriogonadotropin alfa(DB00097)|Goserelin(DB00014)|Lutropin alfa(DB00044)|Menotropins(DB00032)						70	61	64					2																	48915655		2203	4300	6503	SO:0001587	stop_gained	3973				male genitalia development|male gonad development	endosome|integral to plasma membrane	luteinizing hormone receptor activity	g.chr2:48915655A>T		CCDS1842.1	2p21	2012-08-10			ENSG00000138039	ENSG00000138039		"GPCR / Class A : Gonadotropin and TSH receptors"	6585	protein-coding gene	gene with protein product		152790	"hypergonadotropic hypogonadism"	HHG			Standard	NM_000233		Approved	LHR, LCGR, LGR2, ULG5	uc002rwu.4	P22888	OTTHUMG00000129257	ENST00000294954.7:c.1281T>A	2.37:g.48915655A>T	ENSP00000294954:p.Tyr427*					LHCGR_ENST00000405626.1_Nonsense_Mutation_p.Y400*|LHCGR_ENST00000403273.1_3'UTR|LHCGR_ENST00000401907.1_Intron|LHCGR_ENST00000344775.3_Nonsense_Mutation_p.Y365*|STON1-GTF2A1L_ENST00000402114.2_Intron	p.Y427*	NM_000233.3	NP_000224.2	P22888	LSHR_HUMAN	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		11	1302	-		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	427					Q14751|Q15996|Q9UEW9	Nonsense_Mutation	SNP	ENST00000294954.7	37	c.1281T>A	CCDS1842.1	.	.	.	.	.	.	.	.	.	.	A	23.9	4.470789	0.84533	.	.	ENSG00000138039	ENST00000344775;ENST00000294954;ENST00000405626	.	.	.	5.91	-0.291	0.12843	.	0.366463	0.32852	N	0.005567	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.5718	0.45204	0.4775:0.0:0.5225:0.0	.	.	.	.	X	365;427;400	.	.	Y	-	3	2	LHCGR	48769159	1.000000	0.71417	0.994000	0.49952	0.996000	0.88848	1.151000	0.31651	-0.057000	0.13199	0.533000	0.62120	TAT		0.493	LHCGR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251364.4	NM_000233.3		12	94	0	0	0	1	0	12	94					T	48915655	A	T	48915655	4	4	42	1	0	0	0	0	0	1	0	0	8762	456	16	5	822	5	LHCGR	2	48915655	Nonsense_Mutation	SNP	A	TCGA-CH-5792-01A-11D-1576-08	38726944	48915655	194283718	6	2248											
ZSWIM2	151112	broad.mit.edu	37	chr2	187693166	187693166	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aattttataatcataggttaAtttttttgaatttgaattat	14	22	4	1	0	1	2	1	2	0	0	1	2	1	2	0	1	0	1	0	1	8	10			TCGA-CH-5792-01A-11D-1576-08	TCGA-CH-5792-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9447bfdb-8772-4a94-a7e5-9b95f205b262	2f8846f4-bd22-447a-b4c3-4fc9049b5a21	g.chr2:187693166A>T	ENST00000295131.2	-	9	1486	c.1447T>A	c.(1447-1449)Tta>Ata	p.L483I		NM_182521.2	NP_872327.2	Q8NEG5	ZSWM2_HUMAN	zinc finger, SWIM-type containing 2	483					apoptotic process (GO:0006915)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|protein polyubiquitination (GO:0000209)		ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.L483I(1)		cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(28)|ovary(2)|prostate(4)|skin(6)|urinary_tract(1)	52			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.164)			TCATAGGTTAATTTTTTTGAA	0.318																																						ENST00000295131.2																			1	Substitution - Missense(1)	p.L483I(1)	prostate(1)	cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(28)|ovary(2)|prostate(4)|skin(6)|urinary_tract(1)	52						c.(1447-1449)Tta>Ata		zinc finger, SWIM-type containing 2							36	42	40					2																	187693166		2203	4298	6501	SO:0001583	missense	151112				apoptosis		zinc ion binding	g.chr2:187693166A>T	AK128006	CCDS33348.1	2q32.2	2008-02-05			ENSG00000163012	ENSG00000163012		"Zinc fingers, SWIM-type", "Zinc fingers, ZZ-type"	30990	protein-coding gene	gene with protein product						12477932	Standard	NM_182521		Approved	MGC33890, ZZZ2	uc002upu.1	Q8NEG5	OTTHUMG00000154259	ENST00000295131.2:c.1447T>A	2.37:g.187693166A>T	ENSP00000295131:p.Leu483Ile						p.L483I	NM_182521.2	NP_872327.2	Q8NEG5	ZSWM2_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.164)		9	1486	-			483					B3KXV6|Q53SI3|Q57ZY3	Missense_Mutation	SNP	ENST00000295131.2	37	c.1447T>A	CCDS33348.1	.	.	.	.	.	.	.	.	.	.	A	4.231	0.041808	0.08196	.	.	ENSG00000163012	ENST00000295131	T	0.26223	1.75	5.07	-0.107	0.13592	.	1.077030	0.07240	N	0.864021	T	0.17746	0.0426	L	0.42245	1.32	0.09310	N	1	P	0.37781	0.608	B	0.30105	0.111	T	0.18398	-1.0338	10	0.32370	T	0.25	8.0E-4	6.54	0.22375	0.4795:0.3709:0.1496:0.0	.	483	Q8NEG5	ZSWM2_HUMAN	I	483	ENSP00000295131:L483I	ENSP00000295131:L483I	L	-	1	2	ZSWIM2	187401411	0.108000	0.22018	0.163000	0.22734	0.023000	0.10783	0.266000	0.18534	-0.447000	0.07138	-1.795000	0.00624	TTA		0.318	ZSWIM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334565.1	NM_182521		17	85	0	0	0	1	0	17	85					T	187693166	A	T	187693166	3	4	42	1	0	0	0	0	1	0	0	0	18238	98	4	5	458	5	ZSWIM2	2	187693166	Missense_Mutation	SNP	A	TCGA-CH-5792-01A-11D-1576-08	138777511	187693166	55506207	7	2249											
IRS1	3667	broad.mit.edu	37	chr2	227661593	227661593	+	Frame_Shift_Del	DEL	G	G	-																															cctttcggccactgggcactGgggccacccctggggacatg																										TCGA-CH-5792-01A-11D-1576-08	TCGA-CH-5792-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9447bfdb-8772-4a94-a7e5-9b95f205b262	2f8846f4-bd22-447a-b4c3-4fc9049b5a21	g.chr2:227661593delG	ENST00000305123.5	-	1	2882	c.1862delC	c.(1861-1863)ccafs	p.P621fs	IRS1_ENST00000498335.1_5'Flank	NM_005544.2	NP_005535.1	P35568	IRS1_HUMAN	insulin receptor substrate 1	621					cellular response to insulin stimulus (GO:0032869)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose homeostasis (GO:0042593)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lipid catabolic process (GO:0016042)|mammary gland development (GO:0030879)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of insulin secretion (GO:0046676)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fatty acid beta-oxidation (GO:0032000)|positive regulation of glucose import (GO:0046326)|positive regulation of glucose import in response to insulin stimulus (GO:2001275)|positive regulation of glucose metabolic process (GO:0010907)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of insulin receptor signaling pathway (GO:0046628)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|protein kinase B signaling (GO:0043491)|protein localization to nucleus (GO:0034504)|regulation of gene expression (GO:0010468)|response to insulin (GO:0032868)|response to peptide hormone (GO:0043434)|signal transduction (GO:0007165)	caveola (GO:0005901)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|insulin receptor complex (GO:0005899)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	insulin receptor binding (GO:0005158)|insulin-like growth factor receptor binding (GO:0005159)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein kinase C binding (GO:0005080)|SH2 domain binding (GO:0042169)|signal transducer activity (GO:0004871)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(10)|lung(33)|ovary(6)|pancreas(1)|prostate(1)|urinary_tract(2)	69		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)		ACTGGGCACTGGGGCCACCCC	0.632											OREG0015248	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000305123.4																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(10)|lung(33)|ovary(6)|pancreas(1)|prostate(1)|urinary_tract(2)	69						c.(1861-1863)cafs		insulin receptor substrate 1							61	58	59					2																	227661593		2203	4300	6503	SO:0001589	frameshift_variant	3667				fibroblast growth factor receptor signaling pathway|glucose homeostasis|insulin receptor signaling pathway|negative regulation of insulin receptor signaling pathway|negative regulation of insulin secretion|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity	caveola|cytosol|insulin receptor complex|microsome|nucleus	insulin receptor binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase binding|protein kinase C binding|SH2 domain binding|transmembrane receptor protein tyrosine kinase adaptor activity	g.chr2:227661593delG		CCDS2463.1	2q36	2013-01-10			ENSG00000169047	ENSG00000169047		"Pleckstrin homology (PH) domain containing"	6125	protein-coding gene	gene with protein product		147545				1648180	Standard	NM_005544		Approved	HIRS-1	uc002voh.4	P35568	OTTHUMG00000133179	ENST00000305123.5:c.1862delC	2.37:g.227661593delG	ENSP00000304895:p.Pro621fs		OREG0015248	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	2321		p.P621fs	NM_005544.2	NP_005535.1	P35568	IRS1_HUMAN		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)	1	2882	-		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)	621						Frame_Shift_Del	DEL	ENST00000305123.5	37	c.1862delC	CCDS2463.1																																																																																				0.632	IRS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256886.3	NM_005544		21	98						21	98	---	---	---	---	-	227661593	G	-	227661593	7	5	42	1	0	1	0	1	0	0	0	0	7840	1348	47	0	1870	0	IRS1	2	227661593	Frame_Shift_Del	DEL	G	TCGA-CH-5792-01A-11D-1576-08	39968427	227661593	15537780	8	2250											
MST1R	4486	broad.mit.edu	37	chr3	49928943	49928943	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccaatgagagccagcacattCgggtggttcaggccacgcat	10	7	12	12	2	1	1	1	1	0	1	2	2	1	1	3	3	2	3	3	3	1	2	rs138521247		TCGA-CH-5792-01A-11D-1576-08	TCGA-CH-5792-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9447bfdb-8772-4a94-a7e5-9b95f205b262	2f8846f4-bd22-447a-b4c3-4fc9049b5a21	g.chr3:49928943C>T	ENST00000296474.3	-	16	3450	c.3423G>A	c.(3421-3423)ccG>ccA	p.P1141P	MST1R_ENST00000344206.4_Silent_p.P1092P	NM_002447.2	NP_002438	Q04912	RON_HUMAN	macrophage stimulating 1 receptor (c-met-related tyrosine kinase)	1141	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular component movement (GO:0006928)|defense response (GO:0006952)|innate immune response (GO:0045087)|macrophage colony-stimulating factor signaling pathway (GO:0038145)|multicellular organismal development (GO:0007275)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|response to virus (GO:0009615)|signal transduction (GO:0007165)|single fertilization (GO:0007338)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|macrophage colony-stimulating factor receptor activity (GO:0005011)	p.P1141P(3)		cervix(1)|endometrium(5)|large_intestine(3)|lung(17)|ovary(5)|prostate(2)|skin(1)|urinary_tract(3)	37				BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625)		CCAGCACATTCGGGTGGTTCA	0.612																																						ENST00000296474.3																			3	Substitution - coding silent(3)	p.P1141P(3)	prostate(3)	cervix(1)|endometrium(5)|large_intestine(3)|lung(17)|ovary(5)|prostate(2)|skin(1)|urinary_tract(3)	37						c.(3421-3423)ccG>ccA		macrophage stimulating 1 receptor (c-met-related tyrosine kinase)		C		0,4406		0,0,2203	103	94	97		3423	-10.2	0	3	dbSNP_134	97	1,8599		0,1,4299	no	coding-synonymous	MST1R	NM_002447.2		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		1141/1401	49928943	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	4486				cellular component movement|defense response|multicellular organismal development|positive regulation of cell proliferation|single fertilization|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|macrophage colony-stimulating factor receptor activity|protein binding	g.chr3:49928943C>T	X70040	CCDS2807.1, CCDS58833.1	3p21	2008-08-18			ENSG00000164078	ENSG00000164078		"CD molecules"	7381	protein-coding gene	gene with protein product		600168	"PTK8 protein tyrosine kinase 8"	RON, PTK8		8386824	Standard	NM_002447		Approved	CDw136, CD136	uc003cxy.4	Q04912	OTTHUMG00000156709	ENST00000296474.3:c.3423G>A	3.37:g.49928943C>T						MST1R_ENST00000344206.4_Silent_p.P1092P	p.P1141P	NM_002447.2	NP_002438.2	Q04912	RON_HUMAN		BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625)	16	3450	-			1141			Protein kinase.		B5A944|B5A945|B5A946|B5A947	Silent	SNP	ENST00000296474.3	37	c.3423G>A	CCDS2807.1	.	.	.	.	.	.	.	.	.	.	.	2.080	-0.410924	0.04799	0.0	1.16E-4	ENSG00000164078	ENST00000434765;ENST00000440292	.	.	.	5.08	-10.2	0.00374	.	.	.	.	.	T	0.24392	0.0591	.	.	.	0.24237	N	0.995372	.	.	.	.	.	.	T	0.20706	-1.0267	4	.	.	.	-5.1559	8.4579	0.32910	0.0638:0.3998:0.3576:0.1788	.	.	.	.	Q	119;162	.	.	R	-	2	0	MST1R	49903947	0.000000	0.05858	0.001000	0.08648	0.425000	0.31504	-5.293000	0.00134	-2.384000	0.00591	-0.843000	0.03049	CGA		0.612	MST1R-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000345403.1			15	160	0	0	0	1	0	15	160					T	49928943	C	T	49928943	2	4	42	1	0	0	0	0	0	0	0	1	9891	871	31	2		2	MST1R	3	49928943	Silent	SNP	C	TCGA-CH-5792-01A-11D-1576-08		49928943	148093487	9	2251											
PDZRN3	23024	broad.mit.edu	37	chr3	73432865	73432865	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcatgccgctgcgctcttccCggatcttcagggcgcgctcc	3	10	11	17	5	4	0	2	0	2	0	6	1	6	1	3	2	2	3	3	2	0	2			TCGA-CH-5792-01A-11D-1576-08	TCGA-CH-5792-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9447bfdb-8772-4a94-a7e5-9b95f205b262	2f8846f4-bd22-447a-b4c3-4fc9049b5a21	g.chr3:73432865C>T	ENST00000263666.4	-	10	2966	c.2852G>A	c.(2851-2853)cGg>cAg	p.R951Q	PDZRN3_ENST00000466780.1_Missense_Mutation_p.R608Q|PDZRN3_ENST00000462146.2_Missense_Mutation_p.R608Q|PDZRN3_ENST00000466348.1_5'Flank|PDZRN3_ENST00000535920.1_Missense_Mutation_p.R673Q|PDZRN3_ENST00000479530.1_Missense_Mutation_p.R668Q	NM_015009.1	NP_055824.1	Q9UPQ7	PZRN3_HUMAN	PDZ domain containing ring finger 3	951					neuromuscular junction development (GO:0007528)|protein ubiquitination (GO:0016567)	neuromuscular junction (GO:0031594)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.R951Q(2)		breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)		GCGCTCTTCCCGGATCTTCAG	0.657																																						ENST00000263666.4																			2	Substitution - Missense(2)	p.R951Q(2)	prostate(2)	breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69						c.(2851-2853)cGg>cAg		PDZ domain containing ring finger 3							48	48	48					3																	73432865		2203	4300	6503	SO:0001583	missense	23024						ubiquitin-protein ligase activity|zinc ion binding	g.chr3:73432865C>T	AB029018	CCDS33789.1	3p14.1	2013-01-09	2008-08-14		ENSG00000121440	ENSG00000121440		"RING-type (C3HC4) zinc fingers"	17704	protein-coding gene	gene with protein product	"likely ortholog of mouse semaF cytoplasmic domain associated protein 3"	609729				10470851	Standard	XM_005264718		Approved	KIAA1095, SEMACAP3, LNX3	uc003dpl.1	Q9UPQ7	OTTHUMG00000158865	ENST00000263666.4:c.2852G>A	3.37:g.73432865C>T	ENSP00000263666:p.Arg951Gln					PDZRN3_ENST00000535920.1_Missense_Mutation_p.R673Q|PDZRN3_ENST00000479530.1_Missense_Mutation_p.R668Q|PDZRN3_ENST00000462146.2_Missense_Mutation_p.R608Q|PDZRN3_ENST00000466780.1_Missense_Mutation_p.R608Q	p.R951Q	NM_015009.1	NP_055824.1	Q9UPQ7	PZRN3_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)	10	2966	-		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)	951					A7MCZ6|Q8N2N7|Q96CC2|Q9NSQ2	Missense_Mutation	SNP	ENST00000263666.4	37	c.2852G>A	CCDS33789.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.54|13.54	2.266579|2.266579	0.40095|0.40095	.|.	.|.	ENSG00000121440|ENSG00000121440	ENST00000494559|ENST00000263666;ENST00000535920;ENST00000462146;ENST00000466780;ENST00000479530	.|T;T;T;T;T	.|0.42513	.|0.97;0.97;0.97;0.97;0.97	5.27|5.27	5.27|5.27	0.74061|0.74061	.|.	.|0.171581	.|0.50627	.|D	.|0.000102	T|T	0.27489|0.27489	0.0675|0.0675	L|L	0.47016|0.47016	1.485|1.485	0.39169|0.39169	D|D	0.962555|0.962555	.|B;P;B;P	.|0.50943	.|0.407;0.94;0.449;0.94	.|B;B;B;B	.|0.33042	.|0.157;0.124;0.048;0.124	T|T	0.15665|0.15665	-1.0429|-1.0429	5|10	.|0.35671	.|T	.|0.21	.|.	7.2518|7.2518	0.26154|0.26154	0.0:0.7895:0.0:0.2105|0.0:0.7895:0.0:0.2105	.|.	.|673;668;668;951	.|F5H8I9;B7ZAG0;B7Z5X9;Q9UPQ7	.|.;.;.;PZRN3_HUMAN	R|Q	267|951;673;608;608;668	.|ENSP00000263666:R951Q;ENSP00000442026:R673Q;ENSP00000418168:R608Q;ENSP00000418484:R608Q;ENSP00000418624:R668Q	.|ENSP00000263666:R951Q	G|R	-|-	1|2	0|0	PDZRN3|PDZRN3	73515555|73515555	0.997000|0.997000	0.39634|0.39634	1.000000|1.000000	0.80357|0.80357	0.529000|0.529000	0.34654|0.34654	2.770000|2.770000	0.47662|0.47662	2.452000|2.452000	0.82932|0.82932	0.563000|0.563000	0.77884|0.77884	GGG|CGG		0.657	PDZRN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352460.1	XM_041363		8	72	0	0	0	1	0	8	72					T	73432865	C	T	73432865	3	4	42	1	0	0	0	0	1	0	0	0	11709	652	23	2	352	2	PDZRN3	3	73432865	Missense_Mutation	SNP	C	TCGA-CH-5792-01A-11D-1576-08	23503922	73432865	124589565	10	2252											
CMYA5	202333	broad.mit.edu	37	chr5	79029070	79029070	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gaagcaagggtagaagacaaAcaagatcttttattttctac	16	11	8	6	0	2	3	0	0	2	3	2	4	2	3	0	1	3	2	0	1	8	6			TCGA-CH-5792-01A-11D-1576-08	TCGA-CH-5792-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9447bfdb-8772-4a94-a7e5-9b95f205b262	2f8846f4-bd22-447a-b4c3-4fc9049b5a21	g.chr5:79029070A>G	ENST00000446378.2	+	2	4513	c.4482A>G	c.(4480-4482)aaA>aaG	p.K1494K		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	1494					negative regulation of calcineurin-NFAT signaling cascade (GO:0070885)|negative regulation of protein phosphatase type 2B activity (GO:0032513)|regulation of skeletal muscle adaptation (GO:0014733)	costamere (GO:0043034)		p.K1494K(2)		NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		TAGAAGACAAACAAGATCTTT	0.403																																						ENST00000446378.2																			2	Substitution - coding silent(2)	p.K1494K(2)	prostate(2)	NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128						c.(4480-4482)aaA>aaG		cardiomyopathy associated 5							123	118	119					5																	79029070		1853	4095	5948	SO:0001819	synonymous_variant	202333					perinuclear region of cytoplasm		g.chr5:79029070A>G	AW755254, AL831986	CCDS47238.1	5q14.1	2013-02-11			ENSG00000164309	ENSG00000164309		"Tripartite motif containing / Tripartite motif containing", "A-kinase anchor proteins", "Fibronectin type III domain containing"	14305	protein-coding gene	gene with protein product	"genethonin-3", "tripartite motif-containing 76"	612193	"chromosome 5 open reading frame 10"	C5orf10		14688250	Standard	NM_153610		Approved	myospryn, SPRYD2, DKFZp451G223, TRIM76	uc003kgc.3	Q8N3K9	OTTHUMG00000162548	ENST00000446378.2:c.4482A>G	5.37:g.79029070A>G							p.K1494K	NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)	2	4513	+		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)	1494					A0PJB7|Q05CT4|Q2NKX1|Q2T9G9|Q69YQ8|Q69YQ9|Q6P517|Q6P5U3|Q7Z4I1|Q86T34|Q86T49|Q8N3S4|Q8N3S7|Q8NAG8|Q9UK88	Silent	SNP	ENST00000446378.2	37	c.4482A>G	CCDS47238.1																																																																																				0.403	CMYA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369497.1	NM_153610		13	213	0	0	0	1	0	13	213					G	79029070	A	G	79029070	2	3	42	1	0	0	0	0	0	0	0	1	3590	40	2	4		4	CMYA5	5	79029070	Silent	SNP	A	TCGA-CH-5792-01A-11D-1576-08		79029070	101886190	11	2253											
FAM81B	153643	broad.mit.edu	37	chr5	94749818	94749818	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tggctttcgaaaagaggaatCgctcgccaggaagttactgg	11	9	13	8	3	0	1	0	0	0	1	3	4	0	3	1	4	1	3	1	4	5	2	rs200794195	byFrequency	TCGA-CH-5792-01A-11D-1576-08	TCGA-CH-5792-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9447bfdb-8772-4a94-a7e5-9b95f205b262	2f8846f4-bd22-447a-b4c3-4fc9049b5a21	g.chr5:94749818C>T	ENST00000283357.5	+	4	507	c.461C>T	c.(460-462)tCg>tTg	p.S154L		NM_152548.2	NP_689761	Q96LP2	FA81B_HUMAN	family with sequence similarity 81, member B	154						nucleus (GO:0005634)		p.S154L(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_cancers(142;1.1e-06)|all_epithelial(76;1.48e-09)|all_lung(232;0.000696)|Lung NSC(167;0.000947)|Ovarian(225;0.00473)		all cancers(79;1.04e-16)		AAAGAGGAATCGCTCGCCAGG	0.473													C|||	6	0.00119808	0.0045	0	5008	,	,		19361	0		0	False		,,,				2504	0					ENST00000283357.5																			1	Substitution - Missense(1)	p.S154L(1)	prostate(1)	central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						c.(460-462)tCg>tTg		family with sequence similarity 81, member B		C	LEU/SER	2,3976		0,2,1987	97	99	98		461	0.8	0	5		98	1,8337		0,1,4168	yes	missense	FAM81B	NM_152548.2	145	0,3,6155	TT,TC,CC		0.012,0.0503,0.0244	benign	154/453	94749818	3,12313	1989	4169	6158	SO:0001583	missense	153643							g.chr5:94749818C>T		CCDS43341.1	5q15	2008-02-05			ENSG00000153347	ENSG00000153347			26335	protein-coding gene	gene with protein product							Standard	NM_152548		Approved	FLJ25333	uc003kla.1	Q96LP2	OTTHUMG00000162837	ENST00000283357.5:c.461C>T	5.37:g.94749818C>T	ENSP00000283357:p.Ser154Leu						p.S154L	NM_152548.2	NP_689761.2	Q96LP2	FA81B_HUMAN		all cancers(79;1.04e-16)	4	507	+		all_cancers(142;1.1e-06)|all_epithelial(76;1.48e-09)|all_lung(232;0.000696)|Lung NSC(167;0.000947)|Ovarian(225;0.00473)	154						Missense_Mutation	SNP	ENST00000283357.5	37	c.461C>T	CCDS43341.1	.	.	.	.	.	.	.	.	.	.	C	2.227	-0.377095	0.05000	5.03E-4	1.2E-4	ENSG00000153347	ENST00000283357	T	0.19669	2.13	5.53	0.816	0.18768	.	0.642786	0.15384	N	0.265144	T	0.17874	0.0429	L	0.52364	1.645	0.09310	N	1	B	0.15930	0.015	B	0.13407	0.009	T	0.25641	-1.0126	10	0.25751	T	0.34	1.7557	9.8456	0.41026	0.0:0.6534:0.0:0.3466	.	154	Q96LP2	FA81B_HUMAN	L	154	ENSP00000283357:S154L	ENSP00000283357:S154L	S	+	2	0	FAM81B	94775574	0.000000	0.05858	0.005000	0.12908	0.004000	0.04260	0.775000	0.26689	-0.144000	0.11314	-0.143000	0.13931	TCG		0.473	FAM81B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370690.1	NM_152548		25	110	0	0	0	1	0	25	110					T	94749818	C	T	94749818	3	4	42	1	0	0	0	0	1	0	0	0	5629	893	31	2	475	2	FAM81B	5	94749818	Missense_Mutation	SNP	C	TCGA-CH-5792-01A-11D-1576-08	15720748	94749818	86165442	12	2254											
PCDHB14	56122	broad.mit.edu	37	chr5	140604725	140604725	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcgaggcgctggtgcgcgtgCtggtgctggacgccaacgac	5	6	18	12	6	0	0	0	0	0	0	0	3	0	1	1	4	4	3	1	4	1	0			TCGA-CH-5792-01A-11D-1576-08	TCGA-CH-5792-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9447bfdb-8772-4a94-a7e5-9b95f205b262	2f8846f4-bd22-447a-b4c3-4fc9049b5a21	g.chr5:140604725C>G	ENST00000239449.4	+	1	1648	c.1648C>G	c.(1648-1650)Ctg>Gtg	p.L550V	PCDHB14_ENST00000515856.2_Missense_Mutation_p.L397V	NM_018934.2	NP_061757.1	Q9Y5E9	PCDBE_HUMAN	protocadherin beta 14	550	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(21)|ovary(2)|prostate(3)|skin(6)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGTGCGCGTGCTGGTGCTGGA	0.716																																					Ovarian(141;50 1831 27899 33809 37648)	ENST00000239449.4																			0				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(21)|ovary(2)|prostate(3)|skin(6)|urinary_tract(1)	49						c.(1648-1650)Ctg>Gtg									33	36	35					5																	140604725		2202	4297	6499	SO:0001583	missense	0				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140604725C>G	AF152493	CCDS4256.1	5q31	2010-01-26			ENSG00000120327	ENSG00000120327		"Cadherins / Protocadherins : Clustered"	8685	other	protocadherin		606340				10380929	Standard	NM_018934		Approved	PCDH-BETA14	uc003ljb.3	Q9Y5E9	OTTHUMG00000129619	ENST00000239449.4:c.1648C>G	5.37:g.140604725C>G	ENSP00000239449:p.Leu550Val					PCDHB14_ENST00000515856.2_Missense_Mutation_p.L397V	p.L550V	NM_018934.2	NP_061757.1	Q9Y5E9	PCDBE_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1648	+			550			Cadherin 5.		B4DPE2|Q4FZA4|Q4KN11	Missense_Mutation	SNP	ENST00000239449.4	37	c.1648C>G	CCDS4256.1	.	.	.	.	.	.	.	.	.	.	-	0.019	-1.449387	0.01080	.	.	ENSG00000120327	ENST00000515856;ENST00000239449	T;T	0.01685	4.69;4.69	4.15	-1.52	0.08637	Cadherin (5);Cadherin conserved site (1);Cadherin-like (1);	.	.	.	.	T	0.00695	0.0023	N	0.01267	-0.92	0.09310	N	1	B	0.13145	0.007	B	0.17979	0.02	T	0.47484	-0.9114	9	0.09084	T	0.74	.	7.1111	0.25390	0.1345:0.6339:0.1362:0.0954	.	550	Q9Y5E9	PCDBE_HUMAN	V	397;550	ENSP00000444518:L397V;ENSP00000239449:L550V	ENSP00000239449:L550V	L	+	1	2	PCDHB14	140584909	0.000000	0.05858	0.270000	0.24601	0.959000	0.62525	-3.811000	0.00360	-0.286000	0.09076	-0.321000	0.08615	CTG		0.716	PCDHB14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251814.2	NM_018934		5	79	0	0	0	1	0	5	79					G	140604725	C	G	140604725	3	3	42	1	0	0	0	0	1	0	0	0	11539	796	28	5	1650	5	PCDHB14	5	140604725	Missense_Mutation	SNP	C	TCGA-CH-5792-01A-11D-1576-08	45854907	140604725	40310535	13	2255											
NOD1	10392	broad.mit.edu	37	chr7	30491366	30491366	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaagggaggatagcaggacGtggtcgctgcccccgcaggg	8	4	19	10	3	0	0	0	0	0	0	1	4	0	4	2	6	2	3	2	6	2	1			TCGA-CH-5792-01A-11D-1576-08	TCGA-CH-5792-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9447bfdb-8772-4a94-a7e5-9b95f205b262	2f8846f4-bd22-447a-b4c3-4fc9049b5a21	g.chr7:30491366G>A	ENST00000222823.4	-	6	2192	c.1667C>T	c.(1666-1668)aCg>aTg	p.T556M		NM_006092.2	NP_006083.1	Q9Y239	NOD1_HUMAN	nucleotide-binding oligomerization domain containing 1	556					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of MAPK activity (GO:0000187)|apoptotic process (GO:0006915)|defense response (GO:0006952)|defense response to bacterium (GO:0042742)|defense response to Gram-positive bacterium (GO:0050830)|detection of bacterium (GO:0016045)|detection of biotic stimulus (GO:0009595)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-8 biosynthetic process (GO:0042228)|intracellular signal transduction (GO:0035556)|JNK cascade (GO:0007254)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of dendritic cell antigen processing and presentation (GO:0002606)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of JNK cascade (GO:0046330)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of tumor necrosis factor production (GO:0032760)|protein oligomerization (GO:0051259)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|CARD domain binding (GO:0050700)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|identical protein binding (GO:0042802)|peptidoglycan binding (GO:0042834)|protein homodimerization activity (GO:0042803)	p.T556M(1)		breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(2)|prostate(1)|skin(2)	39						ATAGCAGGACGTGGTCGCTGC	0.607																																						ENST00000222823.4																			1	Substitution - Missense(1)	p.T556M(1)	prostate(1)	breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(2)|prostate(1)|skin(2)	39						c.(1666-1668)aCg>aTg		nucleotide-binding oligomerization domain containing 1							58	65	63					7																	30491366		2203	4300	6503	SO:0001583	missense	10392				activation of MAPK activity|detection of bacterium|induction of apoptosis|inflammatory response|innate immune response|interleukin-8 biosynthetic process|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of dendritic cell antigen processing and presentation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protein oligomerization|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	basolateral plasma membrane|cytosol	ATP binding|CARD domain binding|caspase activator activity|peptidoglycan binding|protein homodimerization activity	g.chr7:30491366G>A	AF126484	CCDS5427.1	7p15-p14	2006-12-08	2006-12-08	2006-12-08	ENSG00000106100	ENSG00000106100		"Nucleotide-binding domain and leucine rich repeat containing"	16390	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 1", "NLR family, CARD domain containing 1"	605980	"caspase recruitment domain family, member 4"	CARD4		10224040, 10329646	Standard	NM_006092		Approved	NLRC1, CLR7.1	uc003tav.3	Q9Y239	OTTHUMG00000023923	ENST00000222823.4:c.1667C>T	7.37:g.30491366G>A	ENSP00000222823:p.Thr556Met						p.T556M	NM_006092.2	NP_006083.1	Q9Y239	NOD1_HUMAN			6	2192	-			556					B4DTU3|Q549U4|Q8IWF5	Missense_Mutation	SNP	ENST00000222823.4	37	c.1667C>T	CCDS5427.1	.	.	.	.	.	.	.	.	.	.	G	1.510	-0.549839	0.03996	.	.	ENSG00000106100	ENST00000222823	T	0.70869	-0.52	4.78	-4.2	0.03823	.	1.960840	0.02294	N	0.070537	T	0.50616	0.1626	L	0.29908	0.895	0.09310	N	1	B	0.31968	0.349	B	0.21151	0.033	T	0.35375	-0.9791	10	0.48119	T	0.1	.	2.2916	0.04140	0.1498:0.3193:0.3172:0.2137	.	556	Q9Y239	NOD1_HUMAN	M	556	ENSP00000222823:T556M	ENSP00000222823:T556M	T	-	2	0	NOD1	30457891	0.002000	0.14202	0.000000	0.03702	0.046000	0.14306	0.819000	0.27308	-0.644000	0.05465	-0.136000	0.14681	ACG		0.607	NOD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250443.2			39	136	0	0	0	1	0	39	136					A	30491366	G	A	30491366	3	1	42	1	0	0	0	0	1	0	0	0	10516	1145	40	1	1230	1	NOD1	7	30491366	Missense_Mutation	SNP	G	TCGA-CH-5792-01A-11D-1576-08		30491366	128647297	14	2256											
VGF	7425	broad.mit.edu	37	chr7	100807837	100807837	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tgggagccgcttggtgccggGggtgaggcgggacggtcgag	4	6	23	8	5	0	1	0	1	0	0	1	4	0	3	2	7	2	1	2	7	0	1			TCGA-CH-5792-01A-11D-1576-08	TCGA-CH-5792-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9447bfdb-8772-4a94-a7e5-9b95f205b262	2f8846f4-bd22-447a-b4c3-4fc9049b5a21	g.chr7:100807837G>A	ENST00000249330.2	-	2	527	c.288C>T	c.(286-288)ccC>ccT	p.P96P	VGF_ENST00000445482.2_Silent_p.P96P	NM_003378.3	NP_003369.2	O15240	VGF_HUMAN	VGF nerve growth factor inducible	96					defense response to bacterium (GO:0042742)|generation of precursor metabolites and energy (GO:0006091)|glucose homeostasis (GO:0042593)|insulin secretion (GO:0030073)|ovarian follicle development (GO:0001541)|response to cAMP (GO:0051591)|response to cold (GO:0009409)|response to dietary excess (GO:0002021)|response to insulin (GO:0032868)|sexual reproduction (GO:0019953)	cytoplasmic vesicle (GO:0031410)|extracellular space (GO:0005615)		p.P96P(1)		cervix(1)|large_intestine(1)|lung(4)|prostate(2)|skin(1)	9	Lung NSC(181;0.168)|all_lung(186;0.215)					TTGGTGCCGGGGGTGAGGCGG	0.716																																						ENST00000249330.2																			1	Substitution - coding silent(1)	p.P96P(1)	prostate(1)	cervix(1)|large_intestine(1)|lung(4)|prostate(2)|skin(1)	9						c.(286-288)ccC>ccT		VGF nerve growth factor inducible							8	9	9					7																	100807837		2094	4141	6235	SO:0001819	synonymous_variant	7425				response to cAMP	extracellular space|transport vesicle	growth factor activity	g.chr7:100807837G>A	Y12661	CCDS5712.1	7q22	2008-07-18			ENSG00000128564	ENSG00000128564			12684	protein-coding gene	gene with protein product	"neuro-endocrine specific protein VGF"	602186				9344675	Standard	NM_003378		Approved		uc003uxx.4	O15240	OTTHUMG00000157109	ENST00000249330.2:c.288C>T	7.37:g.100807837G>A						VGF_ENST00000445482.2_Silent_p.P96P	p.P96P	NM_003378.3	NP_003369.2	O15240	VGF_HUMAN			2	527	-	Lung NSC(181;0.168)|all_lung(186;0.215)		96					Q9UDW8	Silent	SNP	ENST00000249330.2	37	c.288C>T	CCDS5712.1																																																																																				0.716	VGF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347462.1	NM_003378		4	21	0	0	0	1	0	4	21					A	100807837	G	A	100807837	2	1	42	1	0	0	0	0	0	0	0	1	17154	1219	43	3		3	VGF	7	100807837	Silent	SNP	G	TCGA-CH-5792-01A-11D-1576-08	70316471	100807837	58330826	15	2257											
DPP6	1804	broad.mit.edu	37	chr7	154667767	154667767	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctgcacgaagtgaggcggCggctgggcttgctggaggag	6	7	19	9	3	0	1	0	1	0	0	1	4	1	3	1	6	2	4	1	6	1	1			TCGA-CH-5792-01A-11D-1576-08	TCGA-CH-5792-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9447bfdb-8772-4a94-a7e5-9b95f205b262	2f8846f4-bd22-447a-b4c3-4fc9049b5a21	g.chr7:154667767C>T	ENST00000377770.3	+	20	2176	c.2035C>T	c.(2035-2037)Cgg>Tgg	p.R679W	DPP6_ENST00000332007.3_Missense_Mutation_p.R617W|DPP6_ENST00000404039.1_Missense_Mutation_p.R615W|DPP6_ENST00000427557.1_Missense_Mutation_p.R572W			P42658	DPP6_HUMAN	dipeptidyl-peptidase 6	679					cell death (GO:0008219)|neuronal action potential (GO:0019228)|positive regulation of potassium ion transmembrane transport (GO:1901381)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	dipeptidyl-peptidase activity (GO:0008239)|serine-type peptidase activity (GO:0008236)	p.R679W(1)|p.R615W(1)		NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	71	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	OV - Ovarian serous cystadenocarcinoma(82;0.0562)			AGTGAGGCGGCGGCTGGGCTT	0.687																																					NSCLC(125;1384 1783 2490 7422 34254)	ENST00000404039.1																			2	Substitution - Missense(2)	p.R679W(1)|p.R615W(1)	prostate(2)	NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	71						c.(1843-1845)Cgg>Tgg		dipeptidyl-peptidase 6							22	27	25					7																	154667767		2042	4179	6221	SO:0001583	missense	1804				cell death|proteolysis	integral to membrane	dipeptidyl-peptidase activity|serine-type peptidase activity	g.chr7:154667767C>T	M96859	CCDS75682.1, CCDS75683.1, CCDS75684.1	7q36.2	2006-08-07	2006-01-12		ENSG00000130226	ENSG00000130226			3010	protein-coding gene	gene with protein product		126141	"dipeptidylpeptidase VI", "dipeptidylpeptidase 6"			1729689	Standard	XM_006715871		Approved	DPPX	uc003wlk.3	P42658	OTTHUMG00000151511	ENST00000377770.3:c.2035C>T	7.37:g.154667767C>T	ENSP00000367001:p.Arg679Trp					DPP6_ENST00000427557.1_Missense_Mutation_p.R572W|DPP6_ENST00000377770.3_Missense_Mutation_p.R679W|DPP6_ENST00000332007.3_Missense_Mutation_p.R617W	p.R615W	NM_001039350.1|NM_001936.3|NM_130797.2	NP_001034439.1|NP_001927.3|NP_570629.2	P42658	DPP6_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0562)		20	2430	+	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	679						Missense_Mutation	SNP	ENST00000377770.3	37	c.1843C>T		.	.	.	.	.	.	.	.	.	.	C	20.8	4.047344	0.75846	.	.	ENSG00000130226	ENST00000404039;ENST00000377770;ENST00000332007;ENST00000427557	T;T;T;T	0.32023	1.47;1.47;1.47;1.47	4.75	3.72	0.42706	Peptidase S9, prolyl oligopeptidase, catalytic domain (1);	0.293542	0.39341	N	0.001384	T	0.52773	0.1755	M	0.76838	2.35	0.43250	D	0.995178	D;D;D;D	0.76494	0.997;0.996;0.999;0.999	D;P;P;P	0.70716	0.97;0.608;0.855;0.729	T	0.55477	-0.8135	10	0.87932	D	0	-13.5888	10.4047	0.44249	0.7342:0.2657:0.0:0.0	.	572;617;679;615	E9PDL2;P42658-2;P42658;E9PF59	.;.;DPP6_HUMAN;.	W	615;679;617;572	ENSP00000385578:R615W;ENSP00000367001:R679W;ENSP00000328226:R617W;ENSP00000397303:R572W	ENSP00000328226:R617W	R	+	1	2	DPP6	154298700	1.000000	0.71417	0.997000	0.53966	0.952000	0.60782	2.408000	0.44574	0.831000	0.34780	0.430000	0.28490	CGG		0.687	DPP6-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000322932.1	NM_130797		7	27	0	0	0	1	0	7	27					T	154667767	C	T	154667767	3	4	42	1	0	0	0	0	1	0	0	0	4730	759	27	1	2229	1	DPP6	7	154667767	Missense_Mutation	SNP	C	TCGA-CH-5792-01A-11D-1576-08	53859930	154667767	4470896	16	2258											
ARHGEF10	9639	broad.mit.edu	37	chr8	1905302	1905302	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ccgggccaagaaagccaaggCcagctcggcgctggtggtct	8	5	15	13	3	1	1	0	0	1	1	2	1	1	1	4	5	2	2	4	5	3	0			TCGA-CH-5792-01A-11D-1576-08	TCGA-CH-5792-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9447bfdb-8772-4a94-a7e5-9b95f205b262	2f8846f4-bd22-447a-b4c3-4fc9049b5a21	g.chr8:1905302C>A	ENST00000398564.1	+	29	3983	c.3983C>A	c.(3982-3984)gCc>gAc	p.A1328D	ARHGEF10_ENST00000349830.3_Missense_Mutation_p.A1303D|ARHGEF10_ENST00000262112.6_Missense_Mutation_p.A1299D|ARHGEF10_ENST00000518288.1_Missense_Mutation_p.A1327D|ARHGEF10_ENST00000521927.1_3'UTR|ARHGEF10_ENST00000520359.1_Missense_Mutation_p.A1265D			O15013	ARHGA_HUMAN	Rho guanine nucleotide exchange factor (GEF) 10	1328					centrosome duplication (GO:0051298)|myelination in peripheral nervous system (GO:0022011)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of stress fiber assembly (GO:0051496)|spindle assembly involved in mitosis (GO:0090307)	centrosome (GO:0005813)|cytosol (GO:0005829)	kinesin binding (GO:0019894)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.A1303D(1)|p.A1080D(1)|p.A1328D(1)		endometrium(3)|large_intestine(11)|lung(11)|prostate(3)|skin(3)|stomach(3)|urinary_tract(1)	35		Colorectal(14;3.46e-05)|Renal(68;0.000518)|Ovarian(12;0.00409)|Myeloproliferative disorder(644;0.0255)|Hepatocellular(245;0.0834)		COAD - Colon adenocarcinoma(149;1.62e-05)|BRCA - Breast invasive adenocarcinoma(11;1.68e-05)|KIRC - Kidney renal clear cell carcinoma(542;0.00361)|READ - Rectum adenocarcinoma(644;0.0718)		AAAGCCAAGGCCAGCTCGGCG	0.637																																						ENST00000518288.1																			3	Substitution - Missense(3)	p.A1303D(1)|p.A1080D(1)|p.A1328D(1)	prostate(3)	endometrium(3)|large_intestine(11)|lung(11)|prostate(3)|skin(3)|stomach(3)|urinary_tract(1)	35						c.(3979-3981)gCc>gAc		Rho guanine nucleotide exchange factor (GEF) 10							28	29	29					8																	1905302		2202	4299	6501	SO:0001583	missense	9639				centrosome duplication|myelination in peripheral nervous system|positive regulation of GTP catabolic process|positive regulation of stress fiber assembly|regulation of Rho protein signal transduction|spindle assembly involved in mitosis	centrosome|cytosol|soluble fraction	kinesin binding|Rho guanyl-nucleotide exchange factor activity	g.chr8:1905302C>A	AF009205	CCDS34794.1	8p23	2014-09-17			ENSG00000104728	ENSG00000104728		"Rho guanine nucleotide exchange factors"	14103	protein-coding gene	gene with protein product		608136				9205841, 16896804	Standard	XM_005266039		Approved	KIAA0294, Gef10	uc003wpr.3	O15013	OTTHUMG00000163626	ENST00000398564.1:c.3983C>A	8.37:g.1905302C>A	ENSP00000381571:p.Ala1328Asp					ARHGEF10_ENST00000262112.6_Missense_Mutation_p.A1299D|ARHGEF10_ENST00000521927.1_3'UTR|ARHGEF10_ENST00000398564.1_Missense_Mutation_p.A1328D|ARHGEF10_ENST00000349830.3_Missense_Mutation_p.A1303D|ARHGEF10_ENST00000520359.1_Missense_Mutation_p.A1265D	p.A1327D			O15013	ARHGA_HUMAN		COAD - Colon adenocarcinoma(149;1.62e-05)|BRCA - Breast invasive adenocarcinoma(11;1.68e-05)|KIRC - Kidney renal clear cell carcinoma(542;0.00361)|READ - Rectum adenocarcinoma(644;0.0718)	30	4143	+		Colorectal(14;3.46e-05)|Renal(68;0.000518)|Ovarian(12;0.00409)|Myeloproliferative disorder(644;0.0255)|Hepatocellular(245;0.0834)	1328					O14665|Q2KHR8|Q68D55|Q8IWD9|Q8IY77	Missense_Mutation	SNP	ENST00000398564.1	37	c.3980C>A		.	.	.	.	.	.	.	.	.	.	C	17.88	3.497772	0.64186	.	.	ENSG00000104728	ENST00000349830;ENST00000520359;ENST00000518288;ENST00000398564;ENST00000262112;ENST00000522435	T;T;T;T;T;T	0.59772	0.24;0.29;0.24;0.24;0.26;0.35	5.71	4.84	0.62591	.	0.185537	0.47455	D	0.000237	T	0.65811	0.2727	L	0.59436	1.845	0.80722	D	1	D;D	0.57571	0.98;0.973	P;P	0.53450	0.663;0.726	T	0.69694	-0.5076	10	0.66056	D	0.02	-30.621	14.6299	0.68647	0.0:0.9299:0.0:0.0701	.	1265;1303	O15013-7;O15013-5	.;.	D	1303;1265;1327;1328;1299;947	ENSP00000340297:A1303D;ENSP00000427909:A1265D;ENSP00000431012:A1327D;ENSP00000381571:A1328D;ENSP00000262112:A1299D;ENSP00000427768:A947D	ENSP00000262112:A1299D	A	+	2	0	ARHGEF10	1892709	1.000000	0.71417	0.763000	0.31416	0.269000	0.26545	3.754000	0.55189	1.403000	0.46800	0.655000	0.94253	GCC		0.637	ARHGEF10-203	KNOWN	basic	protein_coding	protein_coding				5	79	1	0	0.014758	1	0.0152499	5	79					A	1905302	C	A	1905302	3	1	42	1	0	0	0	0	1	0	0	0	894	739	26	5	4018	5	ARHGEF10	8	1905302	Missense_Mutation	SNP	C	TCGA-CH-5792-01A-11D-1576-08		1905302	144458720	17	2259											
CSMD1	64478	broad.mit.edu	37	chr8	3889497	3889497	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acgatgcaggtcaggatggcGtggccttccaagatgtagcc	9	8	14	10	2	1	1	1	0	0	1	2	3	2	2	3	4	2	2	3	4	2	2	rs368684088		TCGA-CH-5792-01A-11D-1576-08	TCGA-CH-5792-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9447bfdb-8772-4a94-a7e5-9b95f205b262	2f8846f4-bd22-447a-b4c3-4fc9049b5a21	g.chr8:3889497G>A	ENST00000520002.1	-	4	1095	c.540C>T	c.(538-540)caC>caT	p.H180H	CSMD1_ENST00000602557.1_Silent_p.H180H|CSMD1_ENST00000537824.1_Silent_p.H180H|CSMD1_ENST00000602723.1_Silent_p.H180H|CSMD1_ENST00000400186.3_Silent_p.H180H|CSMD1_ENST00000542608.1_Silent_p.H180H|CSMD1_ENST00000539096.1_Silent_p.H180H			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	180	Sushi 1. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)		p.H180H(1)		breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		TCAGGATGGCGTGGCCTTCCA	0.542																																						ENST00000602557.1																			1	Substitution - coding silent(1)	p.H180H(1)	prostate(1)	breast(20)|large_intestine(5)	25						c.(538-540)caC>caT		CUB and Sushi multiple domains 1		G		0,4236		0,0,2118	109	119	116		540	-4.2	0.3	8		116	1,8499		0,1,4249	no	coding-synonymous	CSMD1	NM_033225.5		0,1,6367	AA,AG,GG		0.0118,0.0,0.0079		180/3565	3889497	1,12735	2118	4250	6368	SO:0001819	synonymous_variant	64478					integral to membrane		g.chr8:3889497G>A			8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	14026	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 24"	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.540C>T	8.37:g.3889497G>A						CSMD1_ENST00000602723.1_Silent_p.H180H|CSMD1_ENST00000400186.3_Silent_p.H180H|CSMD1_ENST00000542608.1_Silent_p.H180H|CSMD1_ENST00000539096.1_Silent_p.H180H|CSMD1_ENST00000537824.1_Silent_p.H180H|CSMD1_ENST00000520002.1_Silent_p.H180H	p.H180H			Q96PZ7	CSMD1_HUMAN		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)	4	1095	-		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)	180			Sushi 1.		Q0H0J5|Q96QU9|Q96RM4	Silent	SNP	ENST00000520002.1	37	c.540C>T																																																																																					0.542	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000374500.2	NM_033225		8	35	0	0	0	1	0	8	35					A	3889497	G	A	3889497	2	1	42	1	0	0	0	0	0	0	0	1	3944	1136	40	1		1	CSMD1	8	3889497	Silent	SNP	G	TCGA-CH-5792-01A-11D-1576-08	1984195	3889497	142474525	18	2260											
WHSC1L1	54904	broad.mit.edu	37	chr8	38162867	38162867	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agatggcagtggggaatttgCggacacaggcttcatgataa	12	9	14	6	1	1	2	1	1	0	1	1	4	1	4	0	5	1	2	0	5	2	3			TCGA-CH-5792-01A-11D-1576-08	TCGA-CH-5792-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9447bfdb-8772-4a94-a7e5-9b95f205b262	2f8846f4-bd22-447a-b4c3-4fc9049b5a21	g.chr8:38162867C>T	ENST00000317025.8	-	13	2856	c.2339G>A	c.(2338-2340)cGc>cAc	p.R780H	WHSC1L1_ENST00000433384.2_Missense_Mutation_p.R780H|WHSC1L1_ENST00000527502.1_Missense_Mutation_p.R780H	NM_023034.1	NP_075447.1	Q9BZ95	NSD3_HUMAN	Wolf-Hirschhorn syndrome candidate 1-like 1	780					histone lysine methylation (GO:0034968)|histone methylation (GO:0016571)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)	p.R780H(2)		NS(1)|breast(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	24	Colorectal(12;0.000442)|Esophageal squamous(3;0.0725)	all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.065)	Epithelial(3;3.12e-43)|all cancers(3;1.72e-38)|BRCA - Breast invasive adenocarcinoma(5;2.84e-27)|LUSC - Lung squamous cell carcinoma(2;2.79e-25)|Lung(2;5.03e-23)|COAD - Colon adenocarcinoma(9;0.0511)			GGGGAATTTGCGGACACAGGC	0.463			T	NUP98	AML																																	ENST00000317025.8				Dom	yes		8	8p12	54904	T	Wolf-Hirschhorn syndrome candidate 1-like 1 (NSD3)			L	NUP98		AML		2	Substitution - Missense(2)	p.R780H(2)	prostate(1)|kidney(1)	NS(1)|breast(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	24						c.(2338-2340)cGc>cAc		Wolf-Hirschhorn syndrome candidate 1-like 1							96	91	92					8																	38162867		1948	4144	6092	SO:0001583	missense	54904				cell differentiation|cell growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome	histone-lysine N-methyltransferase activity|zinc ion binding	g.chr8:38162867C>T	AF332469	CCDS6105.1, CCDS43729.1	8p11.2	2013-05-20			ENSG00000147548	ENSG00000147548			12767	protein-coding gene	gene with protein product		607083				10802047, 23269674	Standard	NM_023034		Approved	FLJ20353, NSD3	uc003xli.3	Q9BZ95		ENST00000317025.8:c.2339G>A	8.37:g.38162867C>T	ENSP00000313983:p.Arg780His					WHSC1L1_ENST00000433384.2_Missense_Mutation_p.R780H|WHSC1L1_ENST00000527502.1_Missense_Mutation_p.R780H	p.R780H	NM_023034.1	NP_075447.1	Q9BZ95	NSD3_HUMAN	Epithelial(3;3.12e-43)|all cancers(3;1.72e-38)|BRCA - Breast invasive adenocarcinoma(5;2.84e-27)|LUSC - Lung squamous cell carcinoma(2;2.79e-25)|Lung(2;5.03e-23)|COAD - Colon adenocarcinoma(9;0.0511)		13	2856	-	Colorectal(12;0.000442)|Esophageal squamous(3;0.0725)	all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.065)	780					B7ZL11|D3DSX1|Q1RMD3|Q3B796|Q6ZSA5|Q9BYU8|Q9BYU9|Q9H2M8|Q9H9W9|Q9NXA6	Missense_Mutation	SNP	ENST00000317025.8	37	c.2339G>A	CCDS43729.1	.	.	.	.	.	.	.	.	.	.	C	35	5.489459	0.96323	.	.	ENSG00000147548	ENST00000433384;ENST00000317025;ENST00000446459;ENST00000527502	D;D;D	0.96522	-4.04;-4.04;-4.04	5.75	5.75	0.90469	Zinc finger, RING-type (1);Zinc finger, PHD-type (1);	0.000000	0.48767	U	0.000165	D	0.97898	0.9309	M	0.67397	2.05	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.996;0.998;0.996	D	0.98346	1.0541	10	0.72032	D	0.01	.	19.9392	0.97153	0.0:1.0:0.0:0.0	.	780;780;780	B7ZL11;Q9BZ95-2;Q9BZ95	.;.;NSD3_HUMAN	H	780;780;717;780	ENSP00000393284:R780H;ENSP00000313983:R780H;ENSP00000434730:R780H	ENSP00000313983:R780H	R	-	2	0	WHSC1L1	38282024	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	6.089000	0.71384	2.713000	0.92767	0.655000	0.94253	CGC		0.463	WHSC1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381924.3	NM_023034		4	110	0	0	0	1	0	4	110					T	38162867	C	T	38162867	3	4	42	1	0	0	0	0	1	0	0	0	17360	768	27	1	2022	1	WHSC1L1	8	38162867	Missense_Mutation	SNP	C	TCGA-CH-5792-01A-11D-1576-08	34273370	38162867	108201155	19	2261											
TNFRSF11B	4982	broad.mit.edu	37	chr8	119945484	119945484	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aggtttcttcgtcataatgaAggtactttggaggaaacgtt	11	14	11	5	2	2	1	1	1	1	0	3	3	2	3	0	4	2	3	0	4	4	6	rs144062067	byFrequency	TCGA-CH-5792-01A-11D-1576-08	TCGA-CH-5792-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9447bfdb-8772-4a94-a7e5-9b95f205b262	2f8846f4-bd22-447a-b4c3-4fc9049b5a21	g.chr8:119945484A>C	ENST00000297350.4	-	2	464	c.86T>G	c.(85-87)cTt>cGt	p.L29R		NM_002546.3	NP_002537.3	O00300	TR11B_HUMAN	tumor necrosis factor receptor superfamily, member 11b	29					apoptotic process (GO:0006915)|extracellular matrix organization (GO:0030198)|negative regulation of bone resorption (GO:0045779)|negative regulation of odontogenesis of dentin-containing tooth (GO:0042489)|response to arsenic-containing substance (GO:0046685)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to magnesium ion (GO:0032026)|response to nutrient (GO:0007584)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	cytokine activity (GO:0005125)|receptor activity (GO:0004872)	p.L29R(2)		breast(1)|central_nervous_system(3)|endometrium(4)|large_intestine(6)|lung(7)|prostate(3)|skin(1)	25	all_cancers(13;3.71e-26)|Lung NSC(37;1.69e-07)|Ovarian(258;0.018)|all_neural(195;0.0592)|Hepatocellular(40;0.234)		STAD - Stomach adenocarcinoma(47;0.00193)			GTCATAATGAAGGTACTTTGG	0.443																																						ENST00000297350.4																			2	Substitution - Missense(2)	p.L29R(2)	prostate(2)	breast(1)|central_nervous_system(3)|endometrium(4)|large_intestine(6)|lung(7)|prostate(3)|skin(1)	25						c.(85-87)cTt>cGt		tumor necrosis factor receptor superfamily, member 11b							227	216	220					8																	119945484		2203	4300	6503	SO:0001583	missense	4982				apoptosis|skeletal system development		cytokine activity|receptor activity	g.chr8:119945484A>C	U94332	CCDS6326.1	8q24	2008-07-31	2008-07-31		ENSG00000164761	ENSG00000164761		"Tumor necrosis factor receptor superfamily"	11909	protein-coding gene	gene with protein product		602643	"osteoprotegerin"	OPG		9108485	Standard	NM_002546		Approved	OCIF, TR1	uc003yon.4	O00300	OTTHUMG00000164969	ENST00000297350.4:c.86T>G	8.37:g.119945484A>C	ENSP00000297350:p.Leu29Arg						p.L29R	NM_002546.3	NP_002537.3	O00300	TR11B_HUMAN	STAD - Stomach adenocarcinoma(47;0.00193)		2	464	-	all_cancers(13;3.71e-26)|Lung NSC(37;1.69e-07)|Ovarian(258;0.018)|all_neural(195;0.0592)|Hepatocellular(40;0.234)		29					B2R9A8|O60236|Q53FX6|Q9UHP4	Missense_Mutation	SNP	ENST00000297350.4	37	c.86T>G	CCDS6326.1	.	.	.	.	.	.	.	.	.	.	A	8.058	0.767592	0.15983	.	.	ENSG00000164761	ENST00000297350	T	0.71698	-0.59	6.17	6.17	0.99709	TNFR/CD27/30/40/95 cysteine-rich region (1);	0.326569	0.32416	N	0.006136	T	0.58722	0.2142	L	0.37750	1.13	0.41109	D	0.985725	B	0.27013	0.166	B	0.25405	0.06	T	0.56123	-0.8031	9	.	.	.	-22.2212	10.4761	0.44665	0.9279:0.0:0.0721:0.0	.	29	O00300	TR11B_HUMAN	R	29	ENSP00000297350:L29R	.	L	-	2	0	TNFRSF11B	120014665	1.000000	0.71417	0.995000	0.50966	0.268000	0.26511	1.175000	0.31944	2.371000	0.80710	0.533000	0.62120	CTT		0.443	TNFRSF11B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381220.1			36	165	0	0	0	1	0	36	165					C	119945484	A	C	119945484	3	2	42	1	0	0	0	0	1	0	0	0	16282	72	3	5	1135	5	TNFRSF11B	8	119945484	Missense_Mutation	SNP	A	TCGA-CH-5792-01A-11D-1576-08	81782617	119945484	26418538	20	2262											
NFIL3	4783	broad.mit.edu	37	chr9	94172250	94172250	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gcagtagtgggggagagtgtGagtacccagagaaagaattc	13	7	16	5	0	0	4	0	1	0	3	1	6	0	4	1	2	1	3	1	2	4	3			TCGA-CH-5792-01A-11D-1576-08	TCGA-CH-5792-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9447bfdb-8772-4a94-a7e5-9b95f205b262	2f8846f4-bd22-447a-b4c3-4fc9049b5a21	g.chr9:94172250G>C	ENST00000297689.3	-	2	1161	c.767C>G	c.(766-768)tCa>tGa	p.S256*		NM_005384.2	NP_005375.2	Q16649	NFIL3_HUMAN	nuclear factor, interleukin 3 regulated	256					cellular response to interleukin-4 (GO:0071353)|circadian rhythm (GO:0007623)|immune response (GO:0006955)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of gene expression (GO:0010628)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)	p.S256*(1)		endometrium(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)	16						GGGAGAGTGTGAGTACCCAGA	0.488																																					Esophageal Squamous(152;732 1832 10053 26981 51762)	ENST00000297689.3																			1	Substitution - Nonsense(1)	p.S256*(1)	prostate(1)	endometrium(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)	16						c.(766-768)tCa>tGa		nuclear factor, interleukin 3 regulated							126	128	127					9																	94172250		2203	4300	6503	SO:0001587	stop_gained	4783				circadian rhythm|immune response|transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr9:94172250G>C	X64318	CCDS6690.1	9q22	2013-01-10			ENSG00000165030	ENSG00000165030		"basic leucine zipper proteins"	7787	protein-coding gene	gene with protein product		605327		IL3BP1		7565758, 1620116	Standard	NM_005384		Approved	E4BP4, NFIL3A, NF-IL3A	uc004arh.3	Q16649	OTTHUMG00000020209	ENST00000297689.3:c.767C>G	9.37:g.94172250G>C	ENSP00000297689:p.Ser256*						p.S256*	NM_005384.2	NP_005375.2	Q16649	NFIL3_HUMAN			2	1161	-			256					B2R9Y8|Q14211|Q6FGQ8|Q96HS0	Nonsense_Mutation	SNP	ENST00000297689.3	37	c.767C>G	CCDS6690.1	.	.	.	.	.	.	.	.	.	.	G	37	6.410132	0.97546	.	.	ENSG00000165030	ENST00000375724;ENST00000297689	.	.	.	4.43	4.43	0.53597	.	0.295585	0.27797	N	0.017812	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-7.9189	17.2471	0.87031	0.0:0.0:1.0:0.0	.	.	.	.	X	256	.	ENSP00000297689:S256X	S	-	2	0	NFIL3	93212071	1.000000	0.71417	0.027000	0.17364	0.103000	0.19146	8.852000	0.92215	2.318000	0.78349	0.561000	0.74099	TCA		0.488	NFIL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053038.2	NM_005384		28	187	0	0	0	1	0	28	187					C	94172250	G	C	94172250	4	2	42	1	0	0	0	0	0	1	0	0	10373	1294	45	5	625	5	NFIL3	9	94172250	Nonsense_Mutation	SNP	G	TCGA-CH-5792-01A-11D-1576-08		94172250	47041181	21	2263											
KIAA1217	56243	broad.mit.edu	37	chr10	24820812	24820812	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	agctggggggaaagtcgcccCctcctcctccgccacctcct	5	7	10	19	2	0	0	0	0	0	0	5	1	4	1	8	3	1	1	8	3	1	0			TCGA-CH-5792-01A-11D-1576-08	TCGA-CH-5792-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9447bfdb-8772-4a94-a7e5-9b95f205b262	2f8846f4-bd22-447a-b4c3-4fc9049b5a21	g.chr10:24820812C>A	ENST00000376454.3	+	15	3166	c.3136C>A	c.(3136-3138)Cct>Act	p.P1046T	KIAA1217_ENST00000430453.2_3'UTR|KIAA1217_ENST00000396446.1_Missense_Mutation_p.P729T|KIAA1217_ENST00000396445.1_Missense_Mutation_p.P729T|KIAA1217_ENST00000458595.1_Missense_Mutation_p.P1011T|KIAA1217_ENST00000307544.6_Missense_Mutation_p.P729T|KIAA1217_ENST00000376462.1_Missense_Mutation_p.P966T|KIAA1217_ENST00000376452.3_Missense_Mutation_p.P1010T|KIAA1217_ENST00000376451.2_Missense_Mutation_p.P729T	NM_019590.3	NP_062536.2	Q5T5P2	SKT_HUMAN	KIAA1217	1046					embryonic skeletal system development (GO:0048706)	cytoplasm (GO:0005737)		p.P1046T(2)		breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						AAAGTCGCCCCCTCCTCCTCC	0.517																																						ENST00000376451.2																			2	Substitution - Missense(2)	p.P1046T(2)	prostate(1)|lung(1)	breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						c.(2185-2187)Cct>Act		KIAA1217							44	42	43					10																	24820812		2203	4300	6503	SO:0001583	missense	56243				embryonic skeletal system development	cytoplasm		g.chr10:24820812C>A	BX640796	CCDS31165.1, CCDS41496.1, CCDS60501.1, CCDS60502.1, CCDS60504.1, CCDS60505.1	10p12.31	2009-09-16			ENSG00000120549	ENSG00000120549			25428	protein-coding gene	gene with protein product	"sickle tail"					10574462	Standard	XM_005252500		Approved	DKFZP761L0424, SKT	uc001iru.4	Q5T5P2	OTTHUMG00000017824	ENST00000376454.3:c.3136C>A	10.37:g.24820812C>A	ENSP00000365637:p.Pro1046Thr					KIAA1217_ENST00000376452.3_Missense_Mutation_p.P1010T|KIAA1217_ENST00000307544.6_Missense_Mutation_p.P729T|KIAA1217_ENST00000396446.1_Missense_Mutation_p.P729T|KIAA1217_ENST00000430453.2_3'UTR|KIAA1217_ENST00000396445.1_Missense_Mutation_p.P729T|KIAA1217_ENST00000458595.1_Missense_Mutation_p.P1011T|KIAA1217_ENST00000376462.1_Missense_Mutation_p.P966T|KIAA1217_ENST00000376454.3_Missense_Mutation_p.P1046T	p.P729T			Q5T5P2	SKT_HUMAN			10	2445	+			1046					A5LHW9|A6NLF3|A6PVQ5|A6PVQ6|A6PVQ7|B9EGK4|Q4KMG4|Q5T5P3|Q5T7H3|Q6MZZ6|Q6ZUI4|Q8WV45|Q9NSR2|Q9ULK3	Missense_Mutation	SNP	ENST00000376454.3	37	c.2185C>A	CCDS31165.1	.	.	.	.	.	.	.	.	.	.	C	22.2	4.260801	0.80246	.	.	ENSG00000120549	ENST00000376462;ENST00000458595;ENST00000442879;ENST00000376454;ENST00000376452;ENST00000307544;ENST00000450158;ENST00000396445;ENST00000376451;ENST00000396446	T;T;T;T;T;T;T;T	0.53423	0.62;0.62;0.62;0.62;0.62;0.62;0.62;0.62	5.48	5.48	0.80851	.	0.114107	0.64402	D	0.000011	T	0.66187	0.2764	L	0.59436	1.845	0.49582	D	0.999806	P;D;P;P;D;D;D;D	0.89917	0.926;0.978;0.887;0.843;0.98;0.965;1.0;1.0	B;P;P;P;P;P;D;D	0.91635	0.437;0.754;0.558;0.487;0.758;0.487;0.999;0.999	T	0.63739	-0.6569	10	0.45353	T	0.12	.	17.8959	0.88888	0.0:1.0:0.0:0.0	.	1011;1010;729;729;729;729;1046;1046	Q5T5P2-7;A6NLF3;Q5T5P2-4;Q5T5P2-8;Q5T5P2-3;Q5T5P2-6;Q5T5P2;Q5T5P2-2	.;.;.;.;.;.;SKT_HUMAN;.	T	966;1011;729;1046;1010;729;729;729;729;729	ENSP00000365645:P966T;ENSP00000392625:P1011T;ENSP00000365637:P1046T;ENSP00000365635:P1010T;ENSP00000302343:P729T;ENSP00000379722:P729T;ENSP00000365634:P729T;ENSP00000379723:P729T	ENSP00000302343:P729T	P	+	1	0	KIAA1217	24860818	0.999000	0.42202	0.726000	0.30738	0.932000	0.56968	5.492000	0.66893	2.749000	0.94314	0.655000	0.94253	CCT		0.517	KIAA1217-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047223.2	NM_019590		3	55	1	0	1	1	1	3	55					A	24820812	C	A	24820812	3	1	42	1	0	0	0	0	1	0	0	0	8216	623	22	5	3194	5	KIAA1217	10	24820812	Missense_Mutation	SNP	C	TCGA-CH-5792-01A-11D-1576-08		24820812	110713935	22	2264											
NDST2	8509	broad.mit.edu	37	chr10	75565719	75565719	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgctccggtctagttcacgaGagcctccaggatactcatta	9	11	9	12	2	3	1	2	0	1	1	5	3	5	2	3	2	3	2	3	2	3	4			TCGA-CH-5792-01A-11D-1576-08	TCGA-CH-5792-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9447bfdb-8772-4a94-a7e5-9b95f205b262	2f8846f4-bd22-447a-b4c3-4fc9049b5a21	g.chr10:75565719G>A	ENST00000309979.6	-	7	2058	c.1502C>T	c.(1501-1503)tCt>tTt	p.S501F	NDST2_ENST00000299641.4_Missense_Mutation_p.S378F|RP11-574K11.31_ENST00000603027.1_Missense_Mutation_p.S501F			P52849	NDST2_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 2	501	Heparan sulfate N-deacetylase 2.				carbohydrate metabolic process (GO:0005975)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparin biosynthetic process (GO:0030210)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine N-sulfotransferase activity (GO:0015016)|hydrolase activity (GO:0016787)	p.S501F(1)		cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	30	Prostate(51;0.0112)					TAGTTCACGAGAGCCTCCAGG	0.507																																						ENST00000299641.4																			1	Substitution - Missense(1)	p.S501F(1)	prostate(1)	cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	30						c.(1132-1134)tCt>tTt		N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 2							75	80	78					10																	75565719		2203	4300	6503	SO:0001583	missense	8509					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity	g.chr10:75565719G>A	U36601	CCDS7335.1	10q22	2007-03-14			ENSG00000166507	ENSG00000166507		"Sulfotransferases, membrane-bound"	7681	protein-coding gene	gene with protein product		603268				9601056	Standard	NM_003635		Approved	NST2, HSST2	uc001jvk.2	P52849	OTTHUMG00000018489	ENST00000309979.6:c.1502C>T	10.37:g.75565719G>A	ENSP00000310657:p.Ser501Phe					NDST2_ENST00000309979.6_Missense_Mutation_p.S501F	p.S378F	NM_003635.3	NP_003626.1	P52849	NDST2_HUMAN			8	2103	-	Prostate(51;0.0112)		501			Heparan sulfate N-deacetylase 2.		Q2TB32|Q59H89	Missense_Mutation	SNP	ENST00000309979.6	37	c.1133C>T	CCDS7335.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.225890	0.79576	.	.	ENSG00000166507	ENST00000309979;ENST00000299641	T;T	0.44482	1.23;0.92	5.95	5.95	0.96441	.	0.101452	0.64402	D	0.000001	T	0.50599	0.1625	N	0.20530	0.585	0.80722	D	1	D;D;D	0.60160	0.987;0.987;0.987	D;P;D	0.68192	0.956;0.905;0.934	T	0.37361	-0.9709	10	0.25106	T	0.35	.	20.3854	0.98941	0.0:0.0:1.0:0.0	.	378;171;501	B4E139;B4DQU1;P52849	.;.;NDST2_HUMAN	F	501;378	ENSP00000310657:S501F;ENSP00000299641:S378F	ENSP00000299641:S378F	S	-	2	0	NDST2	75235725	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.790000	0.99075	2.825000	0.97269	0.655000	0.94253	TCT		0.507	NDST2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048710.1	NM_003635		34	129	0	0	0	1	0	34	129					A	75565719	G	A	75565719	3	1	42	1	0	0	0	0	1	0	0	0	10256	942	33	3	1185	3	NDST2	10	75565719	Missense_Mutation	SNP	G	TCGA-CH-5792-01A-11D-1576-08	50744907	75565719	59969028	23	2265											
HCFC2	29915	broad.mit.edu	37	chr12	104487302	104487302	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tggcatcaaatgcttctaatCataatagtcatgtggtggat	12	14	9	6	0	4	0	3	0	1	0	4	1	4	1	0	3	1	2	0	3	4	4			TCGA-CH-5792-01A-11D-1576-08	TCGA-CH-5792-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9447bfdb-8772-4a94-a7e5-9b95f205b262	2f8846f4-bd22-447a-b4c3-4fc9049b5a21	g.chr12:104487302C>T	ENST00000229330.4	+	10	1527	c.1423C>T	c.(1423-1425)Cat>Tat	p.H475Y	HCFC2_ENST00000550335.1_3'UTR	NM_013320.2	NP_037452.1	Q9Y5Z7	HCFC2_HUMAN	host cell factor C2	475					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	transcription coactivator activity (GO:0003713)	p.H475Y(1)		breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|lung(14)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	35						TGCTTCTAATCATAATAGTCA	0.323																																					Esophageal Squamous(184;1814 2036 4771 6974 15702)	ENST00000229330.4																			1	Substitution - Missense(1)	p.H475Y(1)	prostate(1)	breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|lung(14)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	35						c.(1423-1425)Cat>Tat		host cell factor C2							77	76	77					12																	104487302		2203	4299	6502	SO:0001583	missense	29915				regulation of transcription from RNA polymerase II promoter|viral reproduction	cytoplasm|nucleus	transcription coactivator activity	g.chr12:104487302C>T	AF117210	CCDS9097.1	12q23.3	2011-03-30			ENSG00000111727	ENSG00000111727			24972	protein-coding gene	gene with protein product		607926				10196288	Standard	NM_013320		Approved	HCF-2	uc001tkj.4	Q9Y5Z7	OTTHUMG00000170175	ENST00000229330.4:c.1423C>T	12.37:g.104487302C>T	ENSP00000229330:p.His475Tyr					HCFC2_ENST00000550335.1_3'UTR	p.H475Y	NM_013320.2	NP_037452.1	Q9Y5Z7	HCFC2_HUMAN			10	1527	+			475					B2R8Q5|C0H5X3	Missense_Mutation	SNP	ENST00000229330.4	37	c.1423C>T	CCDS9097.1	.	.	.	.	.	.	.	.	.	.	C	13.53	2.263431	0.39995	.	.	ENSG00000111727	ENST00000229330	T	0.01629	4.72	5.49	3.48	0.39840	Fibronectin, type III (2);	0.716541	0.14072	N	0.343300	T	0.01287	0.0042	N	0.08118	0	0.25848	N	0.983971	B	0.28291	0.206	B	0.23018	0.043	T	0.48625	-0.9019	10	0.54805	T	0.06	-7.9068	10.3879	0.44152	0.3694:0.6306:0.0:0.0	.	475	Q9Y5Z7	HCFC2_HUMAN	Y	475	ENSP00000229330:H475Y	ENSP00000229330:H475Y	H	+	1	0	HCFC2	103011432	1.000000	0.71417	0.999000	0.59377	0.918000	0.54935	0.756000	0.26419	1.397000	0.46682	0.591000	0.81541	CAT		0.323	HCFC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407780.1	NM_013320		17	98	0	0	0	1	0	17	98					T	104487302	C	T	104487302	3	4	42	1	0	0	0	0	1	0	0	0	6993	826	29	3	1461	3	HCFC2	12	104487302	Missense_Mutation	SNP	C	TCGA-CH-5792-01A-11D-1576-08		104487302	29364593	24	2266											
NYNRIN	57523	broad.mit.edu	37	chr14	24877295	24877295	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gctggaggagctggtggggcGactgcgctggggccctgccc	3	6	20	12	2	0	0	0	0	0	0	0	3	0	2	2	7	3	3	2	7	0	0			TCGA-CH-5792-01A-11D-1576-08	TCGA-CH-5792-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9447bfdb-8772-4a94-a7e5-9b95f205b262	2f8846f4-bd22-447a-b4c3-4fc9049b5a21	g.chr14:24877295G>A	ENST00000382554.3	+	3	737	c.419G>A	c.(418-420)cGa>cAa	p.R140Q		NM_025081.2	NP_079357.2	Q9P2P1	NYNRI_HUMAN	NYN domain and retroviral integrase containing	140					DNA integration (GO:0015074)	integral component of membrane (GO:0016021)	nucleic acid binding (GO:0003676)	p.R140Q(1)		breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						CTGGTGGGGCGACTGCGCTGG	0.682																																						ENST00000382554.3																			1	Substitution - Missense(1)	p.R140Q(1)	prostate(1)	breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						c.(418-420)cGa>cAa		NYN domain and retroviral integrase containing							34	40	38					14																	24877295		2027	4175	6202	SO:0001583	missense	57523				DNA integration	integral to membrane	DNA binding	g.chr14:24877295G>A	AB037726	CCDS45090.1	14q11.2	2009-10-14	2009-10-14	2009-10-14		ENSG00000205978			20165	protein-coding gene	gene with protein product	"Cousin of GIN1"		"KIAA1305"	KIAA1305		19561090, 17114934	Standard	NM_025081		Approved	FLJ11811, CGIN1	uc001wpf.4	Q9P2P1		ENST00000382554.3:c.419G>A	14.37:g.24877295G>A	ENSP00000371994:p.Arg140Gln						p.R140Q	NM_025081.2	NP_079357.2	Q9P2P1	NYNRI_HUMAN			3	737	+			140					Q6P153|Q86TR3|Q9HAC4	Missense_Mutation	SNP	ENST00000382554.3	37	c.419G>A	CCDS45090.1	.	.	.	.	.	.	.	.	.	.	G	19.82	3.897699	0.72639	.	.	ENSG00000205978	ENST00000382554	T	0.14640	2.49	4.93	4.04	0.47022	.	0.120816	0.27262	N	0.020170	T	0.14270	0.0345	M	0.65975	2.015	0.25000	N	0.991479	B	0.29612	0.251	B	0.21917	0.037	T	0.20273	-1.0280	10	0.87932	D	0	.	7.2114	0.25935	0.194:0.0:0.806:0.0	.	140	Q9P2P1	NYNRI_HUMAN	Q	140	ENSP00000371994:R140Q	ENSP00000371994:R140Q	R	+	2	0	NYNRIN	23947135	0.838000	0.29461	0.923000	0.36655	0.905000	0.53344	2.990000	0.49401	1.297000	0.44761	0.563000	0.77884	CGA		0.682	NYNRIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412939.1			18	43	0	0	0	1	0	18	43					A	24877295	G	A	24877295	3	1	42	1	0	0	0	0	1	0	0	0	10796	1058	37	2	425	2	NYNRIN	14	24877295	Missense_Mutation	SNP	G	TCGA-CH-5792-01A-11D-1576-08		24877295	82472245	25	2267											
SEL1L	6400	broad.mit.edu	37	chr14	81993164	81993164	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gatatcttctgtgacactttCcccctcttggctcttgaggc	5	15	8	13	0	4	2	0	2	4	0	5	3	5	2	2	2	0	1	2	2	1	5			TCGA-CH-5792-01A-11D-1576-08	TCGA-CH-5792-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9447bfdb-8772-4a94-a7e5-9b95f205b262	2f8846f4-bd22-447a-b4c3-4fc9049b5a21	g.chr14:81993164C>T	ENST00000336735.4	-	3	369	c.253G>A	c.(253-255)Gaa>Aaa	p.E85K	SEL1L_ENST00000555824.1_Missense_Mutation_p.E85K	NM_005065.5	NP_005056.3	Q9UBV2	SE1L1_HUMAN	sel-1 suppressor of lin-12-like (C. elegans)	85	Interaction with ERLEC1, OS9 and SYVN1.				Notch signaling pathway (GO:0007219)|response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)		p.E85K(1)		breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(3)	28				BRCA - Breast invasive adenocarcinoma(234;0.0299)		GTGACACTTTCCCCCTCTTGG	0.418																																						ENST00000336735.4																			1	Substitution - Missense(1)	p.E85K(1)	prostate(1)	breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(3)	28						c.(253-255)Gaa>Aaa		sel-1 suppressor of lin-12-like (C. elegans)							187	191	190					14																	81993164		2203	4300	6503	SO:0001583	missense	6400				Notch signaling pathway	endoplasmic reticulum membrane|integral to membrane	protein binding	g.chr14:81993164C>T		CCDS9876.1, CCDS58333.1	14q31	2011-03-31	2001-11-28		ENSG00000071537	ENSG00000071537			10717	protein-coding gene	gene with protein product	"sel-1 suppressor of lin-12-like 1 (C. elegans)"	602329	"sel-1 (suppressor of lin-12, C.elegans)-like"			9417916, 10051412, 16331677	Standard	NM_005065		Approved	IBD2, SEL1L1	uc010tvv.2	Q9UBV2		ENST00000336735.4:c.253G>A	14.37:g.81993164C>T	ENSP00000337053:p.Glu85Lys					SEL1L_ENST00000555824.1_Missense_Mutation_p.E85K	p.E85K	NM_005065.5	NP_005056.3	Q9UBV2	SE1L1_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0299)	3	369	-			85			Interaction with ERLEC1, OS9 and SYVN1.		Q6UWT6|Q9P1T9|Q9UHK7	Missense_Mutation	SNP	ENST00000336735.4	37	c.253G>A	CCDS9876.1	.	.	.	.	.	.	.	.	.	.	C	15.53	2.859944	0.51482	.	.	ENSG00000071537	ENST00000336735;ENST00000555824;ENST00000557372	T;T;T	0.45668	1.63;1.37;0.89	6.07	5.19	0.71726	.	0.177256	0.39687	N	0.001292	T	0.29945	0.0749	N	0.19112	0.55	0.26233	N	0.978989	B;B	0.02656	0.0;0.0	B;B	0.06405	0.0;0.002	T	0.24584	-1.0156	10	0.59425	D	0.04	-13.6587	12.8177	0.57675	0.0:0.9235:0.0:0.0765	.	85;85	Q9UBV2;Q9UBV2-2	SE1L1_HUMAN;.	K	85	ENSP00000337053:E85K;ENSP00000450709:E85K;ENSP00000451144:E85K	ENSP00000337053:E85K	E	-	1	0	SEL1L	81062917	0.189000	0.23263	0.394000	0.26270	0.926000	0.56050	1.890000	0.39728	1.578000	0.49821	0.655000	0.94253	GAA		0.418	SEL1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413325.1	NM_005065		10	316	0	0	0	1	0	10	316					T	81993164	C	T	81993164	3	4	42	1	0	0	0	0	1	0	0	0	14010	864	30	3	2207	3	SEL1L	14	81993164	Missense_Mutation	SNP	C	TCGA-CH-5792-01A-11D-1576-08	57115869	81993164	25356376	26	2268			1	9		2	2	70	C		9.806749e-05
SEL1L	6400	broad.mit.edu	37	chr14	81993233	81993233	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	taattcagattcttctgaatCaagaaatatttgaccagcaa	16	13	5	7	0	4	4	2	2	2	2	4	4	4	4	1	0	1	1	1	0	6	6			TCGA-CH-5792-01A-11D-1576-08	TCGA-CH-5792-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9447bfdb-8772-4a94-a7e5-9b95f205b262	2f8846f4-bd22-447a-b4c3-4fc9049b5a21	g.chr14:81993233C>T	ENST00000336735.4	-	3	300	c.184G>A	c.(184-186)Gat>Aat	p.D62N	SEL1L_ENST00000555824.1_Missense_Mutation_p.D62N	NM_005065.5	NP_005056.3	Q9UBV2	SE1L1_HUMAN	sel-1 suppressor of lin-12-like (C. elegans)	62	Interaction with ERLEC1, OS9 and SYVN1.				Notch signaling pathway (GO:0007219)|response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)		p.D62N(1)		breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(3)	28				BRCA - Breast invasive adenocarcinoma(234;0.0299)		TCTTCTGAATCAAGAAATATT	0.383																																						ENST00000336735.4																			1	Substitution - Missense(1)	p.D62N(1)	prostate(1)	breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(3)	28						c.(184-186)Gat>Aat		sel-1 suppressor of lin-12-like (C. elegans)							92	94	94					14																	81993233		2203	4300	6503	SO:0001583	missense	6400				Notch signaling pathway	endoplasmic reticulum membrane|integral to membrane	protein binding	g.chr14:81993233C>T		CCDS9876.1, CCDS58333.1	14q31	2011-03-31	2001-11-28		ENSG00000071537	ENSG00000071537			10717	protein-coding gene	gene with protein product	"sel-1 suppressor of lin-12-like 1 (C. elegans)"	602329	"sel-1 (suppressor of lin-12, C.elegans)-like"			9417916, 10051412, 16331677	Standard	NM_005065		Approved	IBD2, SEL1L1	uc010tvv.2	Q9UBV2		ENST00000336735.4:c.184G>A	14.37:g.81993233C>T	ENSP00000337053:p.Asp62Asn					SEL1L_ENST00000555824.1_Missense_Mutation_p.D62N	p.D62N	NM_005065.5	NP_005056.3	Q9UBV2	SE1L1_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0299)	3	300	-			62			Interaction with ERLEC1, OS9 and SYVN1.		Q6UWT6|Q9P1T9|Q9UHK7	Missense_Mutation	SNP	ENST00000336735.4	37	c.184G>A	CCDS9876.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.944445	0.73672	.	.	ENSG00000071537	ENST00000336735;ENST00000555824;ENST00000557372	T;T;T	0.39592	1.6;1.35;1.07	6.17	6.17	0.99709	.	0.198372	0.43747	D	0.000537	T	0.36248	0.0960	N	0.24115	0.695	0.41857	D	0.990202	P;P	0.40970	0.734;0.675	B;B	0.41988	0.321;0.372	T	0.07481	-1.0770	10	0.39692	T	0.17	.	17.7962	0.88572	0.0:1.0:0.0:0.0	.	62;62	Q9UBV2;Q9UBV2-2	SE1L1_HUMAN;.	N	62	ENSP00000337053:D62N;ENSP00000450709:D62N;ENSP00000451144:D62N	ENSP00000337053:D62N	D	-	1	0	SEL1L	81062986	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.186000	0.58337	2.941000	0.99782	0.655000	0.94253	GAT		0.383	SEL1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413325.1	NM_005065		10	160	0	0	0	1	0	10	160					T	81993233	C	T	81993233	3	4	42	1	0	0	0	0	1	0	0	0	14010	826	29	3	2276	3	SEL1L	14	81993233	Missense_Mutation	SNP	C	TCGA-CH-5792-01A-11D-1576-08	69	81993233	25356307	27	2269			1	9		2	2	70	C		9.806749e-05
IGF1R	3480	broad.mit.edu	37	chr15	99482581	99482581	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agccgaagatttcacagtcaAaatcggaggtgtgtccttag	12	10	11	8	2	2	1	2	0	0	1	4	3	3	2	2	2	1	0	2	2	4	2			TCGA-CH-5792-01A-11D-1576-08	TCGA-CH-5792-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9447bfdb-8772-4a94-a7e5-9b95f205b262	2f8846f4-bd22-447a-b4c3-4fc9049b5a21	g.chr15:99482581A>G	ENST00000268035.6	+	18	4060	c.3449A>G	c.(3448-3450)aAa>aGa	p.K1150R	IGF1R_ENST00000558762.1_Missense_Mutation_p.K1149R	NM_000875.3	NP_000866.1	P08069	IGF1R_HUMAN	insulin-like growth factor 1 receptor	1150	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axonogenesis (GO:0007409)|brain development (GO:0007420)|epidermis development (GO:0008544)|establishment of cell polarity (GO:0030010)|exocrine pancreas development (GO:0031017)|immune response (GO:0006955)|inactivation of MAPKK activity (GO:0051389)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|male sex determination (GO:0030238)|mammary gland development (GO:0030879)|negative regulation of apoptotic process (GO:0043066)|negative regulation of muscle cell apoptotic process (GO:0010656)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|peptidyl-tyrosine autophosphorylation (GO:0038083)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokinesis (GO:0032467)|positive regulation of DNA replication (GO:0045740)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mitosis (GO:0045840)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of steroid hormone biosynthetic process (GO:0090031)|prostate gland epithelium morphogenesis (GO:0060740)|protein autophosphorylation (GO:0046777)|protein heterooligomerization (GO:0051291)|protein tetramerization (GO:0051262)|regulation of JNK cascade (GO:0046328)|response to vitamin E (GO:0033197)|signal transduction (GO:0007165)	caveola (GO:0005901)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|insulin binding (GO:0043559)|insulin receptor binding (GO:0005158)|insulin receptor substrate binding (GO:0043560)|insulin-like growth factor binding (GO:0005520)|insulin-like growth factor I binding (GO:0031994)|insulin-like growth factor-activated receptor activity (GO:0005010)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein tyrosine kinase activity (GO:0004713)	p.K1150R(2)		NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(13)|lung(20)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261)		"""Insulin(DB00071)|Insulin Glargine(DB00047)|Insulin Lispro(DB00046)|Insulin Regular(DB00030)|Mecasermin(DB01277)"	TTCACAGTCAAAATCGGAGGT	0.498																																						ENST00000268035.6																			2	Substitution - Missense(2)	p.K1150R(2)	prostate(2)	NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(13)|lung(20)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63						c.(3448-3450)aAa>aGa		insulin-like growth factor 1 receptor	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Mecasermin(DB01277)						144	135	138					15																	99482581		2197	4297	6494	SO:0001583	missense	3480				anti-apoptosis|immune response|insulin receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of DNA replication|protein autophosphorylation|protein tetramerization	microsome	ATP binding|identical protein binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor receptor activity|metal ion binding|phosphatidylinositol 3-kinase binding	g.chr15:99482581A>G	M69229	CCDS10378.1, CCDS73785.1	15q26.3	2013-02-11			ENSG00000140443	ENSG00000140443		"CD molecules", "Fibronectin type III domain containing"	5465	protein-coding gene	gene with protein product		147370				1316909	Standard	XM_006720486		Approved	JTK13, CD221, IGFIR, MGC18216, IGFR	uc002bul.3	P08069	OTTHUMG00000149851	ENST00000268035.6:c.3449A>G	15.37:g.99482581A>G	ENSP00000268035:p.Lys1150Arg					IGF1R_ENST00000558762.1_Missense_Mutation_p.K1149R	p.K1150R	NM_000875.3	NP_000866.1	P08069	IGF1R_HUMAN	Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261)		18	4060	+	all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		1150			Protein kinase.		B1B5Y2|Q14CV2|Q9UCC0	Missense_Mutation	SNP	ENST00000268035.6	37	c.3449A>G	CCDS10378.1	.	.	.	.	.	.	.	.	.	.	A	32	5.120128	0.94385	.	.	ENSG00000140443	ENST00000268035	D	0.93488	-3.23	5.9	5.9	0.94986	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	D	0.000009	D	0.95903	0.8666	L	0.60012	1.86	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.96326	0.9240	10	0.87932	D	0	.	16.3317	0.83023	1.0:0.0:0.0:0.0	.	1149;1150	C9J5X1;P08069	.;IGF1R_HUMAN	R	1150	ENSP00000268035:K1150R	ENSP00000268035:K1150R	K	+	2	0	IGF1R	97300104	1.000000	0.71417	0.998000	0.56505	0.885000	0.51271	9.305000	0.96197	2.264000	0.75181	0.533000	0.62120	AAA		0.498	IGF1R-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313537.2	NM_000875		36	160	0	0	0	1	0	36	160					G	99482581	A	G	99482581	3	3	42	1	0	0	0	0	1	0	0	0	7571	14	1	4	3519	4	IGF1R	15	99482581	Missense_Mutation	SNP	A	TCGA-CH-5792-01A-11D-1576-08		99482581	3048811	28	2270											
C16orf46	123775	broad.mit.edu	37	chr16	81095725	81095725	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgcaggcagctggagaagTccttccccacccttggacct	8	8	11	14	0	0	1	0	0	0	1	2	4	2	2	5	3	2	3	5	3	1	2	rs17855893		TCGA-CH-5792-01A-11D-1576-08	TCGA-CH-5792-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9447bfdb-8772-4a94-a7e5-9b95f205b262	2f8846f4-bd22-447a-b4c3-4fc9049b5a21	g.chr16:81095725T>C	ENST00000299578.5	-	4	464	c.229A>G	c.(229-231)Act>Gct	p.T77A	C16orf46_ENST00000444657.3_5'UTR|C16orf46_ENST00000378611.4_Missense_Mutation_p.T77A|RP11-303E16.8_ENST00000564536.1_RNA	NM_152337.2	NP_689550.2	Q6P387	CP046_HUMAN	chromosome 16 open reading frame 46	77			T -> S (in dbSNP:rs17855893). {ECO:0000269|PubMed:15489334}.			cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.T77A(1)		NS(1)|endometrium(2)|large_intestine(3)|lung(9)|prostate(1)|stomach(1)|urinary_tract(1)	18						GCTGGAGAAGTCCTTCCCCAC	0.552																																						ENST00000378611.4																			1	Substitution - Missense(1)	p.T77A(1)	prostate(1)	NS(1)|endometrium(2)|large_intestine(3)|lung(9)|prostate(1)|stomach(1)|urinary_tract(1)	18						c.(229-231)Act>Gct		chromosome 16 open reading frame 46							87	85	85					16																	81095725		2202	4300	6502	SO:0001583	missense	123775							g.chr16:81095725T>C	BC064143	CCDS10932.1, CCDS42201.1	16q23.2	2012-10-09			ENSG00000166455	ENSG00000166455			26525	protein-coding gene	gene with protein product							Standard	NM_152337		Approved	FLJ32702	uc002fgc.4	Q6P387	OTTHUMG00000137629	ENST00000299578.5:c.229A>G	16.37:g.81095725T>C	ENSP00000299578:p.Thr77Ala					C16orf46_ENST00000444657.3_5'UTR|RP11-303E16.8_ENST00000564536.1_RNA|C16orf46_ENST00000299578.5_Missense_Mutation_p.T77A	p.T77A	NM_001100873.1	NP_001094343.1	Q6P387	CP046_HUMAN			3	344	-			77		T -> S (in dbSNP:rs17855893).			Q96MA7	Missense_Mutation	SNP	ENST00000299578.5	37	c.229A>G	CCDS10932.1	.	.	.	.	.	.	.	.	.	.	T	0.460	-0.889655	0.02511	.	.	ENSG00000166455	ENST00000378611;ENST00000299578	T;T	0.15834	2.39;2.39	5.61	0.652	0.17823	.	0.805608	0.11286	N	0.579786	T	0.08223	0.0205	N	0.12746	0.255	0.09310	N	1	B;B	0.16802	0.019;0.019	B;B	0.15484	0.013;0.013	T	0.42932	-0.9422	10	0.12766	T	0.61	.	8.4395	0.32808	0.0:0.4149:0.0:0.5851	.	77;77	Q6P387-2;Q6P387	.;CP046_HUMAN	A	77	ENSP00000367874:T77A;ENSP00000299578:T77A	ENSP00000299578:T77A	T	-	1	0	C16orf46	79653226	0.013000	0.17824	0.002000	0.10522	0.265000	0.26407	0.502000	0.22594	0.093000	0.17368	-0.400000	0.06385	ACT		0.552	C16orf46-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000269054.2	NM_152337		29	100	0	0	0	1	0	29	100					C	81095725	T	C	81095725	3	2	42	1	0	0	0	0	1	0	0	0	1815	1667	58	4	990	4	C16orf46	16	81095725	Missense_Mutation	SNP	T	TCGA-CH-5792-01A-11D-1576-08		81095725	9259028	29	2271											
P2RX5	5026	broad.mit.edu	37	chr17	3595042	3595042	+	Frame_Shift_Del	DEL	G	G	-																															ggtgatgacagcactctgcaGggaggtgtcgacgtcttggt																										TCGA-CH-5792-01A-11D-1576-08	TCGA-CH-5792-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9447bfdb-8772-4a94-a7e5-9b95f205b262	2f8846f4-bd22-447a-b4c3-4fc9049b5a21	g.chr17:3595042delG	ENST00000225328.5	-	2	582	c.184delC	c.(184-186)ctgfs	p.L62fs	P2RX5_ENST00000550772.1_5'Flank|P2RX5-TAX1BP3_ENST00000550383.1_Frame_Shift_Del_p.L62fs|P2RX5_ENST00000552276.1_Frame_Shift_Del_p.L62fs|P2RX5_ENST00000547178.1_Frame_Shift_Del_p.L62fs|P2RX5_ENST00000345901.3_Frame_Shift_Del_p.L62fs|P2RX5_ENST00000435558.1_Frame_Shift_Del_p.L62fs|P2RX5_ENST00000551178.1_Frame_Shift_Del_p.L62fs|P2RX5_ENST00000552050.1_Frame_Shift_Del_p.L26fs	NM_001204519.1|NM_002561.3	NP_001191448.1|NP_002552.2	Q93086	P2RX5_HUMAN	purinergic receptor P2X, ligand-gated ion channel, 5	62					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|ion transmembrane transport (GO:0034220)|nervous system development (GO:0007399)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of calcium-mediated signaling (GO:0050850)|purinergic nucleotide receptor signaling pathway (GO:0035590)|signal transduction (GO:0007165)|transport (GO:0006810)	integral component of nuclear inner membrane (GO:0005639)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|extracellular ATP-gated cation channel activity (GO:0004931)|ion channel activity (GO:0005216)|purinergic nucleotide receptor activity (GO:0001614)|transmembrane signaling receptor activity (GO:0004888)			endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	11						GCACTCTGCAGGGAGGTGTCG	0.592																																						ENST00000550383.1																			0											c.(184-186)tgfs									184	158	167					17																	3595042		2203	4300	6503	SO:0001589	frameshift_variant	0							g.chr17:3595042delG	AF016709	CCDS11034.1, CCDS11035.1, CCDS56014.1, CCDS56015.1	17p13.3	2012-01-17			ENSG00000083454	ENSG00000083454		"Purinergic receptors", "Ligand-gated ion channels / Purinergic receptors, ionotropic"	8536	protein-coding gene	gene with protein product		602836				9414125	Standard	NM_002561		Approved	P2X5	uc002fwi.3	Q93086	OTTHUMG00000090700	ENST00000225328.5:c.184delC	17.37:g.3595042delG	ENSP00000225328:p.Leu62fs					P2RX5_ENST00000552276.1_Frame_Shift_Del_p.L62fs|P2RX5_ENST00000225328.5_Frame_Shift_Del_p.L62fs|P2RX5_ENST00000435558.1_Frame_Shift_Del_p.L62fs|P2RX5_ENST00000552050.1_Frame_Shift_Del_p.L26fs|P2RX5_ENST00000345901.3_Frame_Shift_Del_p.L62fs|P2RX5_ENST00000551178.1_Frame_Shift_Del_p.L62fs|P2RX5_ENST00000547178.1_Frame_Shift_Del_p.L62fs	p.L62fs							2	372	-								G5E981|O43450|O75540|Q308M5|Q59F38|Q8IXW4|Q93087|Q9NZV0	Frame_Shift_Del	DEL	ENST00000225328.5	37	c.184delC	CCDS11034.1																																																																																				0.592	P2RX5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207388.3	NM_002561, NM_175080, NM_175081		39	215						39	215	---	---	---	---	-	3595042	G	-	3595042	7	5	42	1	0	1	0	1	0	0	0	0	11343	991	35	0	1132	0	P2RX5	17	3595042	Frame_Shift_Del	DEL	G	TCGA-CH-5792-01A-11D-1576-08		3595042	77600168	30	2272											
TAF15	8148	broad.mit.edu	37	chr17	34147368	34147368	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cctatggtggttatgagaatCaaaagcagagctcatatagc	14	10	10	7	0	2	2	2	1	0	2	2	3	2	2	1	2	3	3	1	2	7	4			TCGA-CH-5792-01A-11D-1576-08	TCGA-CH-5792-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9447bfdb-8772-4a94-a7e5-9b95f205b262	2f8846f4-bd22-447a-b4c3-4fc9049b5a21	g.chr17:34147368C>T	ENST00000588240.1	+	5	332	c.217C>T	c.(217-219)Caa>Taa	p.Q73*	TAF15_ENST00000592237.1_5'UTR|AC015849.19_ENST00000588415.1_RNA|AC015849.13_ENST00000589356.1_RNA|TAF15_ENST00000311979.3_Nonsense_Mutation_p.Q70*	NM_003487.3|NM_139215.2	NP_003478.1|NP_631961.1	Q16514	TAF12_HUMAN	TAF15 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 68kDa	0					chromatin organization (GO:0006325)|DNA-templated transcription, initiation (GO:0006352)|gene expression (GO:0010467)|histone H3 acetylation (GO:0043966)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|regulation of RNA biosynthetic process (GO:2001141)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	nucleoplasm (GO:0005654)|PCAF complex (GO:0000125)|STAGA complex (GO:0030914)|transcription factor TFIID complex (GO:0005669)|transcription factor TFTC complex (GO:0033276)	DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)	p.Q73*(1)	TAF15/NR4A3(33)	lung(1)|ovary(1)|skin(2)|stomach(1)	5		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0193)		TTATGAGAATCAAAAGCAGAG	0.348			T	"TEC, CHN1, ZNF384"	"extraskeletal myxoid chondrosarcomas, ALL"																																	ENST00000588240.1				Dom	yes		17	17q11.1-q11.2	8148	T	"TAF15 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 68kDa"			"L, M"	"TEC, CHN1, ZNF384"		"extraskeletal myxoid chondrosarcomas, ALL"	TAF15/NR4A3(33)	1	Substitution - Nonsense(1)	p.Q73*(1)	prostate(1)	lung(1)|ovary(1)|skin(2)|stomach(1)	5						c.(217-219)Caa>Taa		TAF15 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 68kDa							103	104	104					17																	34147368		2203	4300	6503	SO:0001587	stop_gained	8148				positive regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|nucleotide binding|protein binding|RNA binding|zinc ion binding	g.chr17:34147368C>T	U51334	CCDS32623.1, CCDS59279.1	17q11.1-q11.2	2013-02-12	2002-08-29	2001-12-07		ENSG00000270647		"RNA binding motif (RRM) containing"	11547	protein-coding gene	gene with protein product		601574	"TATA box binding protein (TBP)-associated factor, RNA polymerase II, N, 68kD (RNA-binding protein 56)"	TAF2N		8954779, 9795213	Standard	NM_003487		Approved	hTAFII68, RBP56, Npl3	uc002hkd.4	Q92804		ENST00000588240.1:c.217C>T	17.37:g.34147368C>T	ENSP00000466950:p.Gln73*					AC015849.19_ENST00000588415.1_RNA|TAF15_ENST00000311979.3_Nonsense_Mutation_p.Q70*|TAF15_ENST00000592237.1_5'UTR|AC015849.13_ENST00000589356.1_RNA	p.Q73*	NM_003487.3|NM_139215.2	NP_003478.1|NP_631961.1	Q92804	RBP56_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0193)	5	332	+		Ovarian(249;0.17)	73			Gln/Gly/Ser/Tyr-rich.		D3DPM5|Q15775|Q5T077	Nonsense_Mutation	SNP	ENST00000588240.1	37	c.217C>T	CCDS32623.1	.	.	.	.	.	.	.	.	.	.	C	36	5.701833	0.96812	.	.	ENSG00000172660	ENST00000311979	.	.	.	6.04	6.04	0.98038	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-4.6838	16.0949	0.81114	0.0:1.0:0.0:0.0	.	.	.	.	X	73	.	ENSP00000309558:Q73X	Q	+	1	0	TAF15	31171481	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.067000	0.50010	2.873000	0.98535	0.563000	0.77884	CAA		0.348	TAF15-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000449134.1	NM_139215		16	73	0	0	0	1	0	16	73					T	34147368	C	T	34147368	4	4	42	1	0	0	0	0	0	1	0	0	15515	827	29	3	235	3	TAF15	17	34147368	Nonsense_Mutation	SNP	C	TCGA-CH-5792-01A-11D-1576-08	30552326	34147368	47047842	31	2273											
RAB5C	5878	broad.mit.edu	37	chr17	40282379	40282379	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aattgtgctctcctggtactCgtgaaactgtcccttgacaa	9	13	8	11	1	1	2	0	2	1	0	4	2	2	2	2	1	3	2	2	1	4	3			TCGA-CH-5792-01A-11D-1576-08	TCGA-CH-5792-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9447bfdb-8772-4a94-a7e5-9b95f205b262	2f8846f4-bd22-447a-b4c3-4fc9049b5a21	g.chr17:40282379C>T	ENST00000346213.4	-	2	354	c.142G>A	c.(142-144)Gag>Aag	p.E48K	RAB5C_ENST00000547517.1_Missense_Mutation_p.E81K|RAB5C_ENST00000393860.3_Missense_Mutation_p.E48K|CTD-2132N18.3_ENST00000592574.1_Missense_Mutation_p.E48K	NM_004583.3	NP_004574.2	P51148	RAB5C_HUMAN	RAB5C, member RAS oncogene family	48					endosome organization (GO:0007032)|GTP catabolic process (GO:0006184)|plasma membrane to endosome transport (GO:0048227)|protein transport (GO:0015031)|regulation of endocytosis (GO:0030100)|small GTPase mediated signal transduction (GO:0007264)	endocytic vesicle (GO:0030139)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|lipid particle (GO:0005811)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)	p.E48K(1)		large_intestine(1)|lung(4)|prostate(1)|skin(1)	7		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.128)		TCCTGGTACTCGTGAAACTGT	0.542																																						ENST00000393860.3																			1	Substitution - Missense(1)	p.E48K(1)	prostate(1)	large_intestine(1)|lung(4)|prostate(1)|skin(1)	7						c.(142-144)Gag>Aag		RAB5C, member RAS oncogene family							100	82	88					17																	40282379		2203	4300	6503	SO:0001583	missense	5878				protein transport|small GTPase mediated signal transduction	early endosome membrane|melanosome|plasma membrane	GTP binding|GTPase activity|protein binding	g.chr17:40282379C>T	U18420	CCDS11419.1, CCDS58551.1	17q21.2	2013-02-15			ENSG00000108774	ENSG00000108774		"RAB, member RAS oncogene"	9785	protein-coding gene	gene with protein product	"RAB, member of RAS oncogene family-like", "RAB5C, member of RAS oncogene family"	604037		RABL		8646882	Standard	NM_004583		Approved	RAB5CL	uc010cxx.3	P51148	OTTHUMG00000169703	ENST00000346213.4:c.142G>A	17.37:g.40282379C>T	ENSP00000345689:p.Glu48Lys					RAB5C_ENST00000346213.4_Missense_Mutation_p.E48K|RAB5C_ENST00000547517.1_Missense_Mutation_p.E81K|CTD-2132N18.3_ENST00000592574.1_Missense_Mutation_p.E48K	p.E48K	NM_201434.2	NP_958842.1	P51148	RAB5C_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.128)	3	458	-		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)	48					F8W1H5|Q6FH55|Q9P0Y5	Missense_Mutation	SNP	ENST00000346213.4	37	c.142G>A	CCDS11419.1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.281333	0.80692	.	.	ENSG00000108774	ENST00000346213;ENST00000393860;ENST00000547517;ENST00000552162;ENST00000550504;ENST00000550406	T;T;T;T;T;T	0.77620	-1.11;-1.11;-1.11;-1.11;-1.11;-1.11	4.86	4.86	0.63082	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.84361	0.5455	L	0.43646	1.37	0.80722	D	1	P;D	0.76494	0.936;0.999	B;D	0.74023	0.403;0.982	D	0.86114	0.1564	10	0.87932	D	0	-30.7403	18.1879	0.89798	0.0:1.0:0.0:0.0	.	81;48	F8W1H5;P51148	.;RAB5C_HUMAN	K	48;48;81;48;48;48	ENSP00000345689:E48K;ENSP00000377440:E48K;ENSP00000447053:E81K;ENSP00000449612:E48K;ENSP00000449777:E48K;ENSP00000448314:E48K	ENSP00000345689:E48K	E	-	1	0	RAB5C	37535905	1.000000	0.71417	0.993000	0.49108	0.500000	0.33767	7.651000	0.83577	2.520000	0.84964	0.467000	0.42956	GAG		0.542	RAB5C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405509.1	NM_004583		11	66	0	0	0	1	0	11	66					T	40282379	C	T	40282379	3	4	42	1	0	0	0	0	1	0	0	0	12950	893	31	2	528	2	RAB5C	17	40282379	Missense_Mutation	SNP	C	TCGA-CH-5792-01A-11D-1576-08	6135011	40282379	40912831	32	2274											
CD300LB	124599	broad.mit.edu	37	chr17	72527561	72527561	+	Frame_Shift_Del	DEL	G	G	-																															gcagatcccagatgcactctGgaagttctgcctgagctctg																										TCGA-CH-5792-01A-11D-1576-08	TCGA-CH-5792-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9447bfdb-8772-4a94-a7e5-9b95f205b262	2f8846f4-bd22-447a-b4c3-4fc9049b5a21	g.chr17:72527561delG	ENST00000392621.1	-	1	44	c.40delC	c.(40-42)cagfs	p.Q14fs	CD300LB_ENST00000314401.3_Frame_Shift_Del_p.Q14fs	NM_174892.2	NP_777552	A8K4G0	CLM7_HUMAN	CD300 molecule-like family member b	0					cellular response to lipopolysaccharide (GO:0071222)|innate immune response (GO:0045087)|neutrophil mediated immunity (GO:0002446)|positive regulation of mast cell activation (GO:0033005)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(1)	21						GATGCACTCTGGAAGTTCTGC	0.542																																						ENST00000392621.1																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(1)	21						c.(40-42)agfs		CD300 molecule-like family member b							83	75	78					17																	72527561		2203	4300	6503	SO:0001589	frameshift_variant	124599					integral to membrane|plasma membrane	receptor activity	g.chr17:72527561delG	AF427618	CCDS11700.1, CCDS11700.2	17q25.1	2013-01-11	2006-03-29		ENSG00000178789	ENSG00000178789		"Immunoglobulin superfamily / V-set domain containing"	30811	protein-coding gene	gene with protein product	"triggering receptor expressed on myeloid cells 5"	610705	"CD300 antigen like family member B"			12975309	Standard	NM_174892		Approved	TREM5, CLM7	uc002jkx.2	A8K4G0	OTTHUMG00000067606	ENST00000392621.1:c.40delC	17.37:g.72527561delG	ENSP00000376397:p.Gln14fs					CD300LB_ENST00000314401.3_Frame_Shift_Del_p.Q14fs	p.Q14fs	NM_174892.2	NP_777552.2	A8K4G0	CLM7_HUMAN			1	44	-			0					Q1EG73|Q8IX40|Q8N6D1	Frame_Shift_Del	DEL	ENST00000392621.1	37	c.40delC	CCDS11700.1																																																																																				0.542	CD300LB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000145082.2	NM_174892		17	105						17	105	---	---	---	---	-	72527561	G	-	72527561	7	5	42	1	0	1	0	1	0	0	0	0	2999	1357	47	0	692	0	CD300LB	17	72527561	Frame_Shift_Del	DEL	G	TCGA-CH-5792-01A-11D-1576-08	32245182	72527561	8667649	33	2275											
SFRS2	6427	broad.mit.edu	37	chr17	74732290	74732290	+	Nonsense_Mutation	SNP	T	T	A																															aggagacttggggggactctTcgatcgcgacctggatttgg																										TCGA-CH-5792-01A-11D-1576-08	TCGA-CH-5792-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9447bfdb-8772-4a94-a7e5-9b95f205b262	2f8846f4-bd22-447a-b4c3-4fc9049b5a21	g.chr17:74732290T>A	ENST00000392485.2	-	2	791	c.619A>T	c.(619-621)Aag>Tag	p.K207*	MFSD11_ENST00000593181.1_5'Flank|RP11-318A15.7_ENST00000587459.1_Intron|MFSD11_ENST00000355954.3_5'Flank|SRSF2_ENST00000359995.5_Nonsense_Mutation_p.K207*|MFSD11_ENST00000586622.1_5'UTR|MFSD11_ENST00000590393.1_5'Flank|MFSD11_ENST00000591864.1_5'Flank|MFSD11_ENST00000590514.1_5'Flank|MFSD11_ENST00000588460.1_5'Flank|MIR636_ENST00000384825.1_RNA|SRSF2_ENST00000508921.3_Nonsense_Mutation_p.K195*|MFSD11_ENST00000336509.4_5'Flank	NM_003016.4	NP_003007.2	Q01130	SRSF2_HUMAN	serine/arginine-rich splicing factor 2	207	Arg/Ser-rich (RS domain).				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|regulation of RNA biosynthetic process (GO:2001141)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	extracellular vesicular exosome (GO:0070062)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|transcription corepressor activity (GO:0003714)	p.K187*(1)|p.K207*(1)		haematopoietic_and_lymphoid_tissue(320)|kidney(2)|large_intestine(1)|lung(4)|prostate(2)	329						GGGGGACTCTTCGATCGCGAC	0.547			Mis		"MDS, CLL"																																	ENST00000392485.2				Dom	yes		17	17q25	6427	Mis	serine/arginine-rich splicing factor 2			L			"MDS, CLL"		2	Substitution - Nonsense(2)	p.K187*(1)|p.K207*(1)	prostate(2)	haematopoietic_and_lymphoid_tissue(320)|kidney(2)|large_intestine(1)|lung(4)|prostate(2)	329						c.(619-621)Aag>Tag		serine/arginine-rich splicing factor 2							80	84	83					17																	74732290		2203	4300	6503	SO:0001587	stop_gained	6427				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nuclear speck	nucleotide binding|protein binding|RNA binding|transcription corepressor activity	g.chr17:74732290T>A	M90104	CCDS11749.1	17q25.2	2014-09-17	2010-06-22	2010-06-22	ENSG00000161547	ENSG00000161547		"Serine/arginine-rich splicing factors", "RNA binding motif (RRM) containing"	10783	protein-coding gene	gene with protein product	"SR splicing factor 2"	600813	"splicing factor, arginine/serine-rich 2"	SFRS2		8530103, 20516191	Standard	NM_003016		Approved	SC-35, SC35, PR264, SFRS2A	uc002jsv.3	Q01130		ENST00000392485.2:c.619A>T	17.37:g.74732290T>A	ENSP00000376276:p.Lys207*					SRSF2_ENST00000508921.3_Nonsense_Mutation_p.K195*|RP11-318A15.7_ENST00000587459.1_Intron|SRSF2_ENST00000359995.5_Nonsense_Mutation_p.K207*|MFSD11_ENST00000586622.1_5'UTR	p.K207*	NM_003016.4	NP_003007.2	Q01130	SRSF2_HUMAN			2	791	-			207			Arg/Ser-rich (RS domain).		B3KWD5|B4DN89|H0YG49	Nonsense_Mutation	SNP	ENST00000392485.2	37	c.619A>T	CCDS11749.1	.	.	.	.	.	.	.	.	.	.	T	37	6.537531	0.97646	.	.	ENSG00000161547	ENST00000392485;ENST00000358156;ENST00000359995	.	.	.	5.09	5.09	0.68999	.	0.135594	0.48286	D	0.000199	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.9483	0.47315	0.0:0.0:0.1567:0.8433	.	.	.	.	X	207;195;187	.	ENSP00000350877:K195X	K	-	1	0	SRSF2	72243885	1.000000	0.71417	1.000000	0.80357	0.913000	0.54294	4.739000	0.62080	1.900000	0.55004	0.533000	0.62120	AAG		0.547	SRSF2-003	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437489.1	NM_003016		5	175	0	0	0	1	0	5	175					A	74732290	T	A	74732290	4	1	42	1	0	0	0	0	0	1	0	0	14175	1792	62	5	50	5	SFRS2	17	74732290	Nonsense_Mutation	SNP	T	TCGA-CH-5792-01A-11D-1576-08	2204729	74732290	6462920	34	2276	14	2									
SFRS2	6427	broad.mit.edu	37	chr17	74732291	74732291	+	Silent	SNP	C	C	A																															ggagacttggggggactcttCgatcgcgacctggatttgga																										TCGA-CH-5792-01A-11D-1576-08	TCGA-CH-5792-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9447bfdb-8772-4a94-a7e5-9b95f205b262	2f8846f4-bd22-447a-b4c3-4fc9049b5a21	g.chr17:74732291C>A	ENST00000392485.2	-	2	790	c.618G>T	c.(616-618)tcG>tcT	p.S206S	MFSD11_ENST00000593181.1_5'Flank|RP11-318A15.7_ENST00000587459.1_Intron|MFSD11_ENST00000355954.3_5'Flank|SRSF2_ENST00000359995.5_Silent_p.S206S|MFSD11_ENST00000586622.1_5'UTR|MFSD11_ENST00000590393.1_5'Flank|MFSD11_ENST00000591864.1_5'Flank|MFSD11_ENST00000590514.1_5'Flank|MFSD11_ENST00000588460.1_5'Flank|MIR636_ENST00000384825.1_RNA|SRSF2_ENST00000508921.3_Silent_p.S194S|MFSD11_ENST00000336509.4_5'Flank	NM_003016.4	NP_003007.2	Q01130	SRSF2_HUMAN	serine/arginine-rich splicing factor 2	206	Arg/Ser-rich (RS domain).				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|regulation of RNA biosynthetic process (GO:2001141)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	extracellular vesicular exosome (GO:0070062)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|transcription corepressor activity (GO:0003714)	p.S186S(1)|p.S206S(1)		haematopoietic_and_lymphoid_tissue(320)|kidney(2)|large_intestine(1)|lung(4)|prostate(2)	329						GGGGACTCTTCGATCGCGACC	0.547			Mis		"MDS, CLL"																																	ENST00000392485.2				Dom	yes		17	17q25	6427	Mis	serine/arginine-rich splicing factor 2			L			"MDS, CLL"		2	Substitution - coding silent(2)	p.S186S(1)|p.S206S(1)	prostate(2)	haematopoietic_and_lymphoid_tissue(320)|kidney(2)|large_intestine(1)|lung(4)|prostate(2)	329						c.(616-618)tcG>tcT		serine/arginine-rich splicing factor 2							81	85	83					17																	74732291		2203	4300	6503	SO:0001819	synonymous_variant	6427				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nuclear speck	nucleotide binding|protein binding|RNA binding|transcription corepressor activity	g.chr17:74732291C>A	M90104	CCDS11749.1	17q25.2	2014-09-17	2010-06-22	2010-06-22	ENSG00000161547	ENSG00000161547		"Serine/arginine-rich splicing factors", "RNA binding motif (RRM) containing"	10783	protein-coding gene	gene with protein product	"SR splicing factor 2"	600813	"splicing factor, arginine/serine-rich 2"	SFRS2		8530103, 20516191	Standard	NM_003016		Approved	SC-35, SC35, PR264, SFRS2A	uc002jsv.3	Q01130		ENST00000392485.2:c.618G>T	17.37:g.74732291C>A						SRSF2_ENST00000508921.3_Silent_p.S194S|RP11-318A15.7_ENST00000587459.1_Intron|SRSF2_ENST00000359995.5_Silent_p.S206S|MFSD11_ENST00000586622.1_5'UTR	p.S206S	NM_003016.4	NP_003007.2	Q01130	SRSF2_HUMAN			2	790	-			206			Arg/Ser-rich (RS domain).		B3KWD5|B4DN89|H0YG49	Silent	SNP	ENST00000392485.2	37	c.618G>T	CCDS11749.1	.	.	.	.	.	.	.	.	.	.	C	11.75	1.732535	0.30684	.	.	ENSG00000161547	ENST00000452355	T	0.36520	1.25	5.09	3.09	0.35607	.	.	.	.	.	T	0.39009	0.1062	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.11966	-1.0566	6	0.44086	T	0.13	.	5.8294	0.18572	0.2173:0.166:0.6167:0.0	.	.	.	.	L	156	ENSP00000391278:R156L	ENSP00000391278:R156L	R	-	2	0	SRSF2	72243886	0.995000	0.38212	1.000000	0.80357	0.925000	0.55904	0.411000	0.21115	0.530000	0.28619	-0.165000	0.13383	CGA		0.547	SRSF2-003	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437489.1	NM_003016		6	175	1	0	8.12818e-05	1	8.54148e-05	6	175					A	74732291	C	A	74732291	2	1	42	1	0	0	0	0	0	0	0	1	14175	871	31	5		5	SFRS2	17	74732291	Silent	SNP	C	TCGA-CH-5792-01A-11D-1576-08	1	74732291	6462919	35	2277	14	2									
BAHCC1	57597	broad.mit.edu	37	chr17	79428906	79428907	+	In_Frame_Ins	INS	-	-	CAG																															accggtgcgggctcaggcccINScagcagcagcagcaaatcca																								rs533325256	byFrequency	TCGA-CH-5792-01A-11D-1576-08	TCGA-CH-5792-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9447bfdb-8772-4a94-a7e5-9b95f205b262	2f8846f4-bd22-447a-b4c3-4fc9049b5a21	g.chr17:79428906_79428907insCAG	ENST00000307745.7	+	30	7217_7218	c.7217_7218insCAG	c.(7216-7221)cccagc>ccCAGcagc	p.2410_2411insS	RP11-1055B8.8_ENST00000572590.1_RNA																							GGCTCAGGCCCCAGCAGCAGCA	0.688														8	0.00159744	0	0	5008	,	,		16976	0.002		0.005	False		,,,				2504	0.001					ENST00000307745.7																			0											c.(7216-7218)cag>cCAGag																																						SO:0001652	inframe_insertion	0							g.chr17:79428906_79428907insCAG																												ENST00000307745.7:c.7227_7229dupCAG	17.37:g.79428913_79428915dupCAG	ENSP00000303486:p.Ser2411_Ser2412dup					RP11-1055B8.8_ENST00000572590.1_RNA	p.2406_2406Q>PE							30	7217_7218	+									In_Frame_Ins	INS	ENST00000307745.7	37	c.7217_7218insCAG																																																																																					0.688	RP11-1055B8.7-201	KNOWN	basic|appris_principal	protein_coding	protein_coding				4	9						4	9	---	---	---	---	CAG	79428907	-	CAG	79428906	7	5	42	1	0	1	1	0	0	0	0	0	1296	623	22	0	7150	0	BAHCC1	17	79428906	In_Frame_Ins	INS	-	TCGA-CH-5792-01A-11D-1576-08	4696615	79428906	1766304	36	2278											
ESCO1	114799	broad.mit.edu	37	chr18	19116092	19116092	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agttctggaatagcacattaGtggagcctgttgaaaaccta	13	11	10	7	0	1	1	0	1	1	0	1	3	1	3	2	2	3	3	2	2	6	5			TCGA-CH-5792-01A-11D-1576-08	TCGA-CH-5792-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9447bfdb-8772-4a94-a7e5-9b95f205b262	2f8846f4-bd22-447a-b4c3-4fc9049b5a21	g.chr18:19116092G>C	ENST00000269214.5	-	10	3035	c.2098C>G	c.(2098-2100)Cta>Gta	p.L700V		NM_052911.2	NP_443143.2	Q5FWF5	ESCO1_HUMAN	establishment of sister chromatid cohesion N-acetyltransferase 1	700					mitotic cell cycle (GO:0000278)|post-translational protein acetylation (GO:0034421)|regulation of DNA replication (GO:0006275)|sister chromatid cohesion (GO:0007062)	chromatin (GO:0000785)|nucleoplasm (GO:0005654)	metal ion binding (GO:0046872)|transferase activity, transferring acyl groups (GO:0016746)	p.L700V(1)		breast(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(10)|prostate(3)|upper_aerodigestive_tract(1)	35						TAGCACATTAGTGGAGCCTGT	0.333																																						ENST00000269214.5																			1	Substitution - Missense(1)	p.L700V(1)	prostate(1)	breast(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(10)|prostate(3)|upper_aerodigestive_tract(1)	35						c.(2098-2100)Cta>Gta		establishment of sister chromatid cohesion N-acetyltransferase 1							127	124	125					18																	19116092		2203	4300	6503	SO:0001583	missense	114799				cell cycle|post-translational protein acetylation|regulation of DNA replication	chromatin|nucleus	acyltransferase activity|metal ion binding	g.chr18:19116092G>C	AL832041	CCDS32800.1	18q11.2	2013-05-02	2013-05-02		ENSG00000141446	ENSG00000141446			24645	protein-coding gene	gene with protein product		609674	"establishment of cohesion 1 homolog 1 (S. cerevisiae)"			11572484, 14576321, 15958495	Standard	NM_052911		Approved	ESO1, EFO1, KIAA1911	uc002kth.1	Q5FWF5		ENST00000269214.5:c.2098C>G	18.37:g.19116092G>C	ENSP00000269214:p.Leu700Val						p.L700V	NM_052911.2	NP_443143.2	Q5FWF5	ESCO1_HUMAN			10	3035	-			700					B0YJ11|B0YJ12|Q69YG4|Q69YS3|Q6IMD7|Q8N3Z5|Q8NBG2|Q96PX7	Missense_Mutation	SNP	ENST00000269214.5	37	c.2098C>G	CCDS32800.1	.	.	.	.	.	.	.	.	.	.	G	13.21	2.168062	0.38315	.	.	ENSG00000141446	ENST00000269214	T	0.59638	0.25	5.54	2.62	0.31277	.	0.442375	0.23310	N	0.049566	T	0.41511	0.1162	L	0.46157	1.445	0.30637	N	0.756825	P	0.44044	0.825	B	0.35655	0.207	T	0.41305	-0.9516	10	0.30854	T	0.27	-16.4415	6.2581	0.20885	0.2349:0.1324:0.6327:0.0	.	700	Q5FWF5	ESCO1_HUMAN	V	700	ENSP00000269214:L700V	ENSP00000269214:L700V	L	-	1	2	ESCO1	17370090	0.991000	0.36638	0.983000	0.44433	0.989000	0.77384	1.574000	0.36482	0.308000	0.22923	0.591000	0.81541	CTA		0.333	ESCO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443942.1	NM_052911		44	170	0	0	0	1	0	44	170					C	19116092	G	C	19116092	3	2	42	1	0	0	0	0	1	0	0	0	5248	1020	36	5	436	5	ESCO1	18	19116092	Missense_Mutation	SNP	G	TCGA-CH-5792-01A-11D-1576-08		19116092	58961156	37	2279											
COL5A3	50509	broad.mit.edu	37	chr19	10089567	10089567	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gggtctccaaagatactcacCgggtccccagggcccccttt	7	8	10	16	1	2	1	1	0	1	1	4	1	3	1	6	3	1	0	6	3	2	2	rs201992310	byFrequency	TCGA-CH-5792-01A-11D-1576-08	TCGA-CH-5792-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9447bfdb-8772-4a94-a7e5-9b95f205b262	2f8846f4-bd22-447a-b4c3-4fc9049b5a21	g.chr19:10089567C>T	ENST00000264828.3	-	40	3049	c.2964G>A	c.(2962-2964)ccG>ccA	p.P988P		NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	collagen, type V, alpha 3	988	Collagen-like 5.|Triple-helical region.				axon guidance (GO:0007411)|cell-matrix adhesion (GO:0007160)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skin development (GO:0043588)	collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)	p.P988P(3)		NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116			Epithelial(33;7.11e-05)			AGATACTCACCGGGTCCCCAG	0.617													c|||	12	0.00239617	0	0	5008	,	,		13911	0.0089		0	False		,,,				2504	0.0031					ENST00000264828.3																			3	Substitution - coding silent(3)	p.P988P(3)	urinary_tract(1)|prostate(1)|endometrium(1)	NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116						c.e40+1		collagen, type V, alpha 3							10	12	11					19																	10089567		2174	4265	6439	SO:0001630	splice_region_variant	50509				collagen fibril organization|skin development	collagen type V	collagen binding|extracellular matrix structural constituent	g.chr19:10089567C>T	AF177941	CCDS12222.1	19p13.2	2013-01-16			ENSG00000080573	ENSG00000080573		"Collagens"	14864	protein-coding gene	gene with protein product		120216				10722718	Standard	NM_015719		Approved		uc002mmq.1	P25940	OTTHUMG00000150019	ENST00000264828.3:c.2964+1G>A	19.37:g.10089567C>T							p.P988_splice	NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	Epithelial(33;7.11e-05)		40	3049	-			988			Triple-helical region.		Q9NZQ6	Splice_Site	SNP	ENST00000264828.3	37	c.2964_splice	CCDS12222.1																																																																																				0.617	COL5A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315788.1	NM_015719	Silent	5	39	0	0	0	1	0	5	39					T	10089567	C	T	10089567	5	4	42	1	0	0	0	0	0	0	1	0	3698	666	23	2	2385	2	COL5A3	19	10089567	Splice_Site	SNP	C	TCGA-CH-5792-01A-11D-1576-08		10089567	49039416	38	2280											
KEAP1	9817	broad.mit.edu	37	chr19	10602358	10602358	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tacggggcacgctcatggggGcgcagggcgaccactgattg	7	6	17	11	4	1	1	1	1	0	0	1	2	1	1	1	5	1	3	1	5	1	2			TCGA-CH-5792-01A-11D-1576-08	TCGA-CH-5792-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9447bfdb-8772-4a94-a7e5-9b95f205b262	2f8846f4-bd22-447a-b4c3-4fc9049b5a21	g.chr19:10602358G>A	ENST00000171111.5	-	3	1767	c.1220C>T	c.(1219-1221)gCc>gTc	p.A407V	CTC-429L19.3_ENST00000592671.1_RNA|KEAP1_ENST00000393623.2_Missense_Mutation_p.A407V|KEAP1_ENST00000588024.1_5'Flank	NM_203500.1	NP_987096.1	Q14145	KEAP1_HUMAN	kelch-like ECH-associated protein 1	407					cellular response to interleukin-4 (GO:0071353)|in utero embryonic development (GO:0001701)|proteasomal ubiquitin-independent protein catabolic process (GO:0010499)|protein ubiquitination (GO:0016567)|regulation of epidermal cell differentiation (GO:0045604)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|microtubule organizing center (GO:0005815)|midbody (GO:0030496)|nucleus (GO:0005634)		p.A407V(1)		breast(3)|endometrium(2)|kidney(4)|large_intestine(4)|liver(2)|lung(69)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	92			OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05)		Dimethyl fumarate(DB08908)	GCTCATGGGGGCGCAGGGCGA	0.652																																						ENST00000171111.5																			1	Substitution - Missense(1)	p.A407V(1)	prostate(1)	breast(3)|endometrium(2)|kidney(4)|large_intestine(4)|liver(2)|lung(69)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	92						c.(1219-1221)gCc>gTc		kelch-like ECH-associated protein 1							34	29	31					19																	10602358		2202	4300	6502	SO:0001583	missense	9817				regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|midbody|nucleus	protein binding	g.chr19:10602358G>A	AF361886	CCDS12239.1	19p13.2	2013-01-30				ENSG00000079999		"Kelch-like", "BTB/POZ domain containing"	23177	protein-coding gene	gene with protein product	"kelch-like family member 19"	606016					Standard	NM_012289		Approved	KIAA0132, MGC10630, MGC1114, MGC20887, MGC4407, MGC9454, INrf2, KLHL19	uc002mor.1	Q14145		ENST00000171111.5:c.1220C>T	19.37:g.10602358G>A	ENSP00000171111:p.Ala407Val					KEAP1_ENST00000393623.2_Missense_Mutation_p.A407V	p.A407V	NM_203500.1	NP_987096.1	Q14145	KEAP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05)		3	1767	-			407					B3KPD5|Q6LEP0|Q8WTX1|Q9BPY9	Missense_Mutation	SNP	ENST00000171111.5	37	c.1220C>T	CCDS12239.1	.	.	.	.	.	.	.	.	.	.	G	18.72	3.683522	0.68157	.	.	ENSG00000079999	ENST00000171111;ENST00000393623	T;T	0.80304	-1.36;-1.36	5.77	4.74	0.60224	Kelch-type beta propeller (1);	0.048152	0.85682	D	0.000000	T	0.78426	0.4281	M	0.83012	2.62	0.54753	D	0.99998	P	0.47191	0.891	B	0.37144	0.242	T	0.77678	-0.2498	10	0.23302	T	0.38	.	12.531	0.56115	0.0804:0.0:0.9196:0.0	.	407	Q14145	KEAP1_HUMAN	V	407	ENSP00000171111:A407V;ENSP00000377245:A407V	ENSP00000171111:A407V	A	-	2	0	KEAP1	10463358	1.000000	0.71417	0.956000	0.39512	0.945000	0.59286	6.544000	0.73878	1.464000	0.47987	0.655000	0.94253	GCC		0.652	KEAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452000.1	NM_012289		5	17	0	0	0	1	0	5	17					A	10602358	G	A	10602358	3	1	42	1	0	0	0	0	1	0	0	0	8141	1203	42	3	670	3	KEAP1	19	10602358	Missense_Mutation	SNP	G	TCGA-CH-5792-01A-11D-1576-08	512791	10602358	48526625	39	2281											
C19orf41	126123	broad.mit.edu	37	chr19	50662822	50662822	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctgagggtcaccagctctTccagcagaggctcatctgag	8	8	11	14	0	4	3	2	2	2	1	5	3	5	3	3	2	2	3	3	2	0	1			TCGA-CH-5792-01A-11D-1576-08	TCGA-CH-5792-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9447bfdb-8772-4a94-a7e5-9b95f205b262	2f8846f4-bd22-447a-b4c3-4fc9049b5a21	g.chr19:50662822T>C	ENST00000293405.3	-	3	323	c.323A>G	c.(322-324)gAa>gGa	p.E108G		NM_152358.2	NP_689571.2	Q6UXV1	IZUM2_HUMAN	IZUMO family member 2	108						integral component of membrane (GO:0016021)		p.E108G(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)	7						CACCAGCTCTTCCAGCAGAGG	0.493																																						ENST00000293405.3																			1	Substitution - Missense(1)	p.E108G(1)	prostate(1)	cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)	7						c.(322-324)gAa>gGa		IZUMO family member 2							67	64	65					19																	50662822		1859	4106	5965	SO:0001583	missense	126123					integral to membrane		g.chr19:50662822T>C	AY358196	CCDS12792.2	19q13.33	2014-02-17	2010-07-29	2010-07-29	ENSG00000161652	ENSG00000161652		"-"	28518	protein-coding gene	gene with protein product			"chromosome 19 open reading frame 41"	C19orf41		19658160, 22957301	Standard	XM_006723007		Approved	MGC33947, SCRL	uc002prp.1	Q6UXV1	OTTHUMG00000074063	ENST00000293405.3:c.323A>G	19.37:g.50662822T>C	ENSP00000293405:p.Glu108Gly						p.E108G	NM_152358.2	NP_689571.2	Q6UXV1	IZUM2_HUMAN			3	323	-			108					Q5GRG3|Q5GRG4|Q6ZNM5|Q8NHR8	Missense_Mutation	SNP	ENST00000293405.3	37	c.323A>G	CCDS12792.2	.	.	.	.	.	.	.	.	.	.	T	17.90	3.502368	0.64298	.	.	ENSG00000161652	ENST00000293405;ENST00000377000	T	0.25749	1.78	4.37	4.37	0.52481	.	0.138526	0.33515	N	0.004840	T	0.30230	0.0758	L	0.29908	0.895	0.31825	N	0.625485	D	0.57257	0.979	P	0.56563	0.801	T	0.27971	-1.0058	10	0.72032	D	0.01	.	10.2326	0.43264	0.0:0.0:0.0:1.0	.	108	Q6UXV1	IZUM2_HUMAN	G	108	ENSP00000293405:E108G	ENSP00000293405:E108G	E	-	2	0	IZUMO2	55354634	0.993000	0.37304	0.967000	0.41034	0.754000	0.42855	3.390000	0.52523	2.191000	0.70037	0.459000	0.35465	GAA		0.493	IZUMO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157232.1	NM_152358		9	87	0	0	0	1	0	9	87					C	50662822	T	C	50662822	3	2	42	1	0	0	0	0	1	0	0	0	1924	1783	62	4	362	4	C19orf41	19	50662822	Missense_Mutation	SNP	T	TCGA-CH-5792-01A-11D-1576-08	40060464	50662822	8466161	40	2282											
NLRP9	338321	broad.mit.edu	37	chr19	56244522	56244522	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctcaaagccatccatgatGaacagaattctctctggctg	11	11	8	11	0	3	3	1	2	2	1	5	3	4	3	2	1	3	2	2	1	3	1	rs371034160		TCGA-CH-5792-01A-11D-1576-08	TCGA-CH-5792-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9447bfdb-8772-4a94-a7e5-9b95f205b262	2f8846f4-bd22-447a-b4c3-4fc9049b5a21	g.chr19:56244522G>T	ENST00000332836.2	-	2	702	c.675C>A	c.(673-675)ttC>ttA	p.F225L		NM_176820.2	NP_789790.2	Q7RTR0	NALP9_HUMAN	NLR family, pyrin domain containing 9	225	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.					cytoplasm (GO:0005737)	ATP binding (GO:0005524)	p.F225L(1)		NS(2)|breast(5)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(15)|lung(21)|ovary(2)|prostate(3)|skin(7)|urinary_tract(3)	74		Colorectal(82;0.000133)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.123)		CATCCATGATGAACAGAATTC	0.483																																						ENST00000332836.2																			1	Substitution - Missense(1)	p.F225L(1)	prostate(1)	NS(2)|breast(5)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(15)|lung(21)|ovary(2)|prostate(3)|skin(7)|urinary_tract(3)	74						c.(673-675)ttC>ttA		NLR family, pyrin domain containing 9							34	35	35					19																	56244522		2203	4300	6503	SO:0001583	missense	338321					cytoplasm	ATP binding	g.chr19:56244522G>T	AY154464	CCDS12934.1	19q13.43	2006-12-08	2006-12-08	2006-12-08				"Nucleotide-binding domain and leucine rich repeat containing"	22941	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 9"	609663	"NACHT, leucine rich repeat and PYD containing 9"	NALP9		12563287	Standard	NM_176820		Approved	NOD6, PAN12, CLR19.1	uc002qly.3	Q7RTR0		ENST00000332836.2:c.675C>A	19.37:g.56244522G>T	ENSP00000331857:p.Phe225Leu						p.F225L	NM_176820.2	NP_789790.2	Q7RTR0	NALP9_HUMAN		GBM - Glioblastoma multiforme(193;0.123)	2	702	-		Colorectal(82;0.000133)|Ovarian(87;0.133)	225			NACHT.		B2RN12|Q86W27	Missense_Mutation	SNP	ENST00000332836.2	37	c.675C>A	CCDS12934.1	.	.	.	.	.	.	.	.	.	.	G	10.06	1.246912	0.22796	.	.	ENSG00000185792	ENST00000332836;ENST00000333452	T	0.52754	0.65	2.46	0.245	0.15512	NACHT nucleoside triphosphatase (1);	.	.	.	.	T	0.44030	0.1274	L	0.41961	1.31	0.30541	N	0.766429	P	0.45011	0.848	P	0.50825	0.651	T	0.48139	-0.9061	9	0.66056	D	0.02	.	3.0358	0.06122	0.2788:0.2368:0.4844:0.0	.	225	Q7RTR0	NALP9_HUMAN	L	225	ENSP00000331857:F225L	ENSP00000331857:F225L	F	-	3	2	NLRP9	60936334	0.998000	0.40836	0.008000	0.14137	0.010000	0.07245	0.613000	0.24299	0.160000	0.19432	-0.162000	0.13425	TTC		0.483	NLRP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453653.1	NM_176820		5	48	1	0	0.184627	1	0.187654	5	48					T	56244522	G	T	56244522	3	4	42	1	0	0	0	0	1	0	0	0	10484	1281	45	5	2332	5	NLRP9	19	56244522	Missense_Mutation	SNP	G	TCGA-CH-5792-01A-11D-1576-08	5581700	56244522	2884461	41	2283											
PDYN	5173	broad.mit.edu	37	chr20	1961214	1961214	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcgcaaaaagcccccatagcGtttgacctgctccttggggt	8	9	11	13	2	0	1	0	1	0	0	1	1	1	1	4	2	3	3	4	2	3	3	rs567558964	byFrequency	TCGA-CH-5792-01A-11D-1576-08	TCGA-CH-5792-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9447bfdb-8772-4a94-a7e5-9b95f205b262	2f8846f4-bd22-447a-b4c3-4fc9049b5a21	g.chr20:1961214G>A	ENST00000217305.2	-	4	745	c.520C>T	c.(520-522)Cgc>Tgc	p.R174C	PDYN_ENST00000539905.1_Missense_Mutation_p.R174C|RP4-684O24.5_ENST00000446562.1_RNA|PDYN_ENST00000540134.1_Missense_Mutation_p.R174C	NM_001190892.1|NM_001190898.2|NM_024411.4	NP_001177821.1|NP_001177827.1|NP_077722.1	P01213	PDYN_HUMAN	prodynorphin	174					cell death (GO:0008219)|neuropeptide signaling pathway (GO:0007218)|synaptic transmission (GO:0007268)	extracellular region (GO:0005576)|plasma membrane (GO:0005886)		p.R174C(2)		endometrium(3)|kidney(1)|large_intestine(5)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						CCCCCATAGCGTTTGACCTGC	0.582													G|||	2	0.000399361	0.0015	0	5008	,	,		17337	0		0	False		,,,				2504	0					ENST00000217305.2																			2	Substitution - Missense(2)	p.R174C(2)	urinary_tract(1)|prostate(1)	endometrium(3)|kidney(1)|large_intestine(5)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						c.(520-522)Cgc>Tgc		prodynorphin							105	105	105					20																	1961214		2203	4300	6503	SO:0001583	missense	5173				cell death|neuropeptide signaling pathway|synaptic transmission	extracellular region|plasma membrane	opioid peptide activity	g.chr20:1961214G>A		CCDS13023.1	20p13	2014-09-17			ENSG00000101327	ENSG00000101327		"Endogenous ligands"	8820	protein-coding gene	gene with protein product	"preproenkephalin B", "rimorphin", "beta-neoendorphin", "dynorphin", "leu-enkephalin", "leumorphin", "neoendorphin-dynorphin-enkephalin prepropeptide"	131340	"spinocerebellar ataxia 23"	SCA23		21035104	Standard	NM_001190892		Approved	PENKB, ADCA	uc021vzs.1	P01213	OTTHUMG00000031683	ENST00000217305.2:c.520C>T	20.37:g.1961214G>A	ENSP00000217305:p.Arg174Cys					PDYN_ENST00000540134.1_Missense_Mutation_p.R174C|PDYN_ENST00000539905.1_Missense_Mutation_p.R174C|RP4-684O24.5_ENST00000446562.1_RNA	p.R174C	NM_001190892.1|NM_001190898.2|NM_024411.4	NP_001177821.1|NP_001177827.1|NP_077722.1	P01213	PDYN_HUMAN			4	745	-			174					A8K0Q3	Missense_Mutation	SNP	ENST00000217305.2	37	c.520C>T	CCDS13023.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.109941	0.77210	.	.	ENSG00000101327	ENST00000539905;ENST00000540134;ENST00000217305	D;D;D	0.89196	-2.48;-2.48;-2.48	4.86	4.86	0.63082	.	0.000000	0.85682	D	0.000000	D	0.94709	0.8293	M	0.90082	3.085	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.94941	0.8091	10	0.87932	D	0	-18.3393	10.5532	0.45101	0.0:0.0:0.8074:0.1926	.	174	P01213	PDYN_HUMAN	C	174	ENSP00000440185:R174C;ENSP00000442259:R174C;ENSP00000217305:R174C	ENSP00000217305:R174C	R	-	1	0	PDYN	1909214	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	5.777000	0.68931	2.531000	0.85337	0.491000	0.48974	CGC		0.582	PDYN-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077569.2			7	171	0	0	0	1	0	7	171					A	1961214	G	A	1961214	3	1	42	1	0	0	0	0	1	0	0	0	11699	1145	40	1	248	1	PDYN	20	1961214	Missense_Mutation	SNP	G	TCGA-CH-5792-01A-11D-1576-08		1961214	61064306	42	2284											
MAPRE1	22919	broad.mit.edu	37	chr20	31424469	31424469	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggacaaattagtaaaaggAaagtttcaggacaattttga	17	11	10	3	0	1	1	1	1	0	0	1	4	1	4	0	3	0	2	0	3	6	5			TCGA-CH-5792-01A-11D-1576-08	TCGA-CH-5792-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9447bfdb-8772-4a94-a7e5-9b95f205b262	2f8846f4-bd22-447a-b4c3-4fc9049b5a21	g.chr20:31424469A>G	ENST00000375571.5	+	4	436	c.297A>G	c.(295-297)ggA>ggG	p.G99G		NM_012325.2	NP_036457.1	Q15691	MARE1_HUMAN	microtubule-associated protein, RP/EB family, member 1	99	CH. {ECO:0000255|PROSITE- ProRule:PRU00044}.				cell proliferation (GO:0008283)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of microtubule polymerization (GO:0031115)|positive regulation of microtubule plus-end binding (GO:1903033)|protein localization to microtubule (GO:0035372)	cell projection membrane (GO:0031253)|centrosome (GO:0005813)|cortical microtubule cytoskeleton (GO:0030981)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|microtubule plus-end (GO:0035371)	microtubule plus-end binding (GO:0051010)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)	p.G99G(1)		endometrium(2)|large_intestine(1)|lung(3)|prostate(2)	8						TAGTAAAAGGAAAGTTTCAGG	0.398																																						ENST00000375571.5																			1	Substitution - coding silent(1)	p.G99G(1)	prostate(1)	endometrium(2)|large_intestine(1)|lung(3)|prostate(2)	8						c.(295-297)ggA>ggG		microtubule-associated protein, RP/EB family, member 1							54	55	55					20																	31424469		2203	4300	6503	SO:0001819	synonymous_variant	22919				cell division|cell proliferation|G2/M transition of mitotic cell cycle|mitotic prometaphase|negative regulation of microtubule polymerization|protein localization to microtubule	centrosome|cortical microtubule cytoskeleton|cytosol	microtubule plus-end binding|protein C-terminus binding	g.chr20:31424469A>G	U24166	CCDS13208.1	20q11.1-q11.3	2013-01-17			ENSG00000101367	ENSG00000101367			6890	protein-coding gene	gene with protein product	"adenomatous polyposis coli-binding protein EB1"	603108				7606712, 9724749, 11470413	Standard	NM_012325		Approved	EB1	uc002wyh.3	Q15691	OTTHUMG00000032228	ENST00000375571.5:c.297A>G	20.37:g.31424469A>G							p.G99G	NM_012325.2	NP_036457.1	Q15691	MARE1_HUMAN			4	436	+			99			CH.		B2R6I7|E1P5M8|Q3KQS8	Silent	SNP	ENST00000375571.5	37	c.297A>G	CCDS13208.1																																																																																				0.398	MAPRE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078647.2	NM_012325		13	73	0	0	0	1	0	13	73					G	31424469	A	G	31424469	2	3	42	1	0	0	0	0	0	0	0	1	9294	233	9	4		4	MAPRE1	20	31424469	Silent	SNP	A	TCGA-CH-5792-01A-11D-1576-08	29463255	31424469	31601051	43	2285											
TXLNG	55787	broad.mit.edu	37	chrX	16859875	16859875	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	caggctctgctccggccatcGagtcggttgactaagatgag	8	9	13	11	3	1	3	0	2	1	1	4	4	2	3	2	3	1	3	2	3	1	2			TCGA-CH-5792-01A-11D-1576-08	TCGA-CH-5792-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9447bfdb-8772-4a94-a7e5-9b95f205b262	2f8846f4-bd22-447a-b4c3-4fc9049b5a21	g.chrX:16859875G>C	ENST00000380122.5	+	10	1634	c.1573G>C	c.(1573-1575)Gag>Cag	p.E525Q	TXLNG_ENST00000398155.4_Missense_Mutation_p.E393Q|TXLNG_ENST00000485153.1_3'UTR	NM_018360.2	NP_060830.2	Q9NUQ3	TXLNG_HUMAN	taxilin gamma	525					cell cycle (GO:0007049)|regulation of bone mineralization (GO:0030500)|regulation of cell cycle (GO:0051726)|regulation of cell cycle process (GO:0010564)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|nuclear membrane (GO:0031965)	protein heterodimerization activity (GO:0046982)	p.E525Q(2)		breast(2)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	15						TCCGGCCATCGAGTCGGTTGA	0.483																																						ENST00000380122.5																			2	Substitution - Missense(2)	p.E525Q(2)	prostate(2)	breast(2)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	15						c.(1573-1575)Gag>Cag		taxilin gamma							63	65	64					X																	16859875		2203	4300	6503	SO:0001583	missense	55787				cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nuclear membrane		g.chrX:16859875G>C	AK002071	CCDS14178.1, CCDS55373.1	Xp22.2	2014-05-07	2010-04-20	2010-04-20	ENSG00000086712	ENSG00000086712			18578	protein-coding gene	gene with protein product	"lipopolysaccharide specific response-5 protein", "factor inhibiting activating transcription factor 4 (ATF4)-mediated transcription"	300677	"chromosome X open reading frame 15"	CXorf15		15911876, 15184072, 16831913	Standard	NM_018360		Approved	FLJ11209, LSR5, FIAT, MGC126621, MGC126625, TXLNGX	uc004cxq.2	Q9NUQ3	OTTHUMG00000021196	ENST00000380122.5:c.1573G>C	X.37:g.16859875G>C	ENSP00000369465:p.Glu525Gln					TXLNG_ENST00000398155.4_Missense_Mutation_p.E393Q|TXLNG_ENST00000485153.1_3'UTR	p.E525Q	NM_018360.2	NP_060830.2	Q9NUQ3	TXLNG_HUMAN			10	1634	+			525					Q2KQ75|Q5JNZ7|Q9P0X1	Missense_Mutation	SNP	ENST00000380122.5	37	c.1573G>C	CCDS14178.1	.	.	.	.	.	.	.	.	.	.	G	12.10	1.837367	0.32513	.	.	ENSG00000086712	ENST00000380122;ENST00000398155	T;T	0.36340	1.26;1.31	5.88	5.01	0.66863	.	0.577332	0.16532	N	0.210335	T	0.27900	0.0687	N	0.19112	0.55	0.80722	D	1	B;B	0.27166	0.17;0.053	B;B	0.24155	0.051;0.038	T	0.03463	-1.1034	10	0.51188	T	0.08	-5.935	16.068	0.80903	0.0:0.1306:0.8694:0.0	.	393;525	Q9NUQ3-2;Q9NUQ3	.;TXLNG_HUMAN	Q	525;393	ENSP00000369465:E525Q;ENSP00000381222:E393Q	ENSP00000369465:E525Q	E	+	1	0	TXLNG	16769796	1.000000	0.71417	0.486000	0.27416	0.002000	0.02628	4.747000	0.62141	1.215000	0.43411	-0.229000	0.12294	GAG		0.483	TXLNG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055912.1	NM_018360		32	63	0	0	0	1	0	32	63					C	16859875	G	C	16859875	3	2	42	1	0	0	0	0	1	0	0	0	16786	1059	37	5	1611	5	TXLNG	23	16859875	Missense_Mutation	SNP	G	TCGA-CH-5792-01A-11D-1576-08		16859875	138410685	44	2286											
HDAC6	10013	broad.mit.edu	37	chrX	48674947	48674947	+	Missense_Mutation	SNP	T	T	G																															caccgtgagagttccaacttTgactccatctatatctgccc																										TCGA-CH-5792-01A-11D-1576-08	TCGA-CH-5792-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9447bfdb-8772-4a94-a7e5-9b95f205b262	2f8846f4-bd22-447a-b4c3-4fc9049b5a21	g.chrX:48674947T>G	ENST00000334136.5	+	19	1876	c.1698T>G	c.(1696-1698)ttT>ttG	p.F566L	HDAC6_ENST00000444343.2_Missense_Mutation_p.F580L|HDAC6_ENST00000376619.2_Missense_Mutation_p.F566L			Q9UBN7	HDAC6_HUMAN	histone deacetylase 6	566	Histone deacetylase 2.				aggresome assembly (GO:0070842)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to misfolded protein (GO:0071218)|cellular response to topologically incorrect protein (GO:0035967)|histone deacetylation (GO:0016575)|Hsp90 deacetylation (GO:0070846)|intracellular protein transport (GO:0006886)|lysosome localization (GO:0032418)|macroautophagy (GO:0016236)|misfolded or incompletely synthesized protein catabolic process (GO:0006515)|negative regulation of hydrogen peroxide metabolic process (GO:0010727)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of oxidoreductase activity (GO:0051354)|negative regulation of protein complex disassembly (GO:0043242)|negative regulation of proteolysis (GO:0045861)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-lysine deacetylation (GO:0034983)|polyubiquitinated misfolded protein transport (GO:0070845)|positive regulation of chaperone-mediated protein complex assembly (GO:0090035)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of hydrogen peroxide-mediated programmed cell death (GO:1901300)|positive regulation of receptor biosynthetic process (GO:0010870)|positive regulation of signal transduction (GO:0009967)|protein complex disassembly (GO:0043241)|protein deacetylation (GO:0006476)|protein polyubiquitination (GO:0000209)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of establishment of protein localization (GO:0070201)|regulation of gene expression, epigenetic (GO:0040029)|regulation of microtubule-based movement (GO:0060632)|regulation of receptor activity (GO:0010469)|response to growth factor (GO:0070848)|response to misfolded protein (GO:0051788)|response to organic substance (GO:0010033)|response to toxic substance (GO:0009636)|transcription, DNA-templated (GO:0006351)|tubulin deacetylation (GO:0090042)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)	aggresome (GO:0016235)|axon (GO:0030424)|caveola (GO:0005901)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|dendrite (GO:0030425)|histone deacetylase complex (GO:0000118)|inclusion body (GO:0016234)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|nucleus (GO:0005634)|perikaryon (GO:0043204)|perinuclear region of cytoplasm (GO:0048471)	alpha-tubulin binding (GO:0043014)|beta-catenin binding (GO:0008013)|core promoter binding (GO:0001047)|dynein complex binding (GO:0070840)|enzyme binding (GO:0019899)|histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|Hsp90 protein binding (GO:0051879)|microtubule binding (GO:0008017)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|polyubiquitin binding (GO:0031593)|tau protein binding (GO:0048156)|tubulin deacetylase activity (GO:0042903)|zinc ion binding (GO:0008270)	p.F566L(1)		breast(2)|endometrium(6)|kidney(5)|large_intestine(8)|lung(9)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	40					Vorinostat(DB02546)	GTTCCAACTTTGACTCCATCT	0.592																																					Pancreas(112;205 1675 2305 8976 15959)	ENST00000334136.5																			1	Substitution - Missense(1)	p.F566L(1)	prostate(1)	breast(2)|endometrium(6)|kidney(5)|large_intestine(8)|lung(9)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	40						c.(1696-1698)ttT>ttG		histone deacetylase 6	Vorinostat(DB02546)						70	53	59					X																	48674947		2203	4300	6503	SO:0001583	missense	10013				aggresome assembly|cellular response to hydrogen peroxide|Hsp90 deacetylation|lysosome localization|macroautophagy|misfolded or incompletely synthesized protein catabolic process|negative regulation of proteolysis|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|polyubiquitinated misfolded protein transport|positive regulation of apoptosis|positive regulation of cellular chaperone-mediated protein complex assembly|positive regulation of epithelial cell migration|positive regulation of receptor biosynthetic process|positive regulation of signal transduction|regulation of androgen receptor signaling pathway|regulation of receptor activity|response to growth factor stimulus|response to toxin|transcription, DNA-dependent|tubulin deacetylation	aggresome|caveola|cell leading edge|cytosol|histone deacetylase complex|microtubule associated complex|perinuclear region of cytoplasm	actin binding|alpha-tubulin binding|beta-catenin binding|dynein complex binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|Hsp90 protein binding|microtubule binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|polyubiquitin binding|tau protein binding|tubulin deacetylase activity|zinc ion binding	g.chrX:48674947T>G	AF132609	CCDS14306.1	Xp11.23	2014-06-12			ENSG00000094631	ENSG00000094631			14064	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 90"	300272				10220385, 10048485	Standard	NM_006044		Approved	KIAA0901, JM21, HD6, FLJ16239, PPP1R90	uc004dks.1	Q9UBN7	OTTHUMG00000034496	ENST00000334136.5:c.1698T>G	X.37:g.48674947T>G	ENSP00000334061:p.Phe566Leu					HDAC6_ENST00000376619.2_Missense_Mutation_p.F566L|HDAC6_ENST00000444343.2_Missense_Mutation_p.F580L	p.F566L			Q9UBN7	HDAC6_HUMAN			19	1876	+			566			Histone deacetylase 2.		O94975|Q6NT75|Q7L3E5|Q96CY0	Missense_Mutation	SNP	ENST00000334136.5	37	c.1698T>G	CCDS14306.1	.	.	.	.	.	.	.	.	.	.	T	18.97	3.735372	0.69189	.	.	ENSG00000094631	ENST00000444343;ENST00000334136;ENST00000376619;ENST00000436813	T;T;T	0.69685	-0.42;-0.42;-0.42	5.44	1.75	0.24633	Histone deacetylase domain (2);	0.434432	0.25288	N	0.031751	T	0.57198	0.2037	N	0.25789	0.76	0.80722	D	1	P;B;P	0.46020	0.759;0.232;0.871	B;B;P	0.49799	0.438;0.224;0.622	T	0.54497	-0.8285	10	0.62326	D	0.03	-4.7211	6.4712	0.22009	0.0:0.5317:0.0:0.4683	.	556;214;566	B4DZN1;B3KVK5;Q9UBN7	.;.;HDAC6_HUMAN	L	580;566;566;566	ENSP00000398566:F580L;ENSP00000334061:F566L;ENSP00000365804:F566L	ENSP00000334061:F566L	F	+	3	2	HDAC6	48559891	1.000000	0.71417	0.648000	0.29521	0.792000	0.44763	1.002000	0.29796	0.227000	0.20999	-0.520000	0.04383	TTT		0.592	HDAC6-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000083394.2	NM_006044		16	22	0	0	0	1	0	16	22					G	48674947	T	G	48674947	3	3	42	1	0	0	0	0	1	0	0	0	7011	1809	63	5	1768	5	HDAC6	23	48674947	Missense_Mutation	SNP	T	TCGA-CH-5792-01A-11D-1576-08	31815072	48674947	106595613	45	2287	15	2									
HDAC6	10013	broad.mit.edu	37	chrX	48674948	48674948	+	Missense_Mutation	SNP	G	G	C																															accgtgagagttccaactttGactccatctatatctgcccc																										TCGA-CH-5792-01A-11D-1576-08	TCGA-CH-5792-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9447bfdb-8772-4a94-a7e5-9b95f205b262	2f8846f4-bd22-447a-b4c3-4fc9049b5a21	g.chrX:48674948G>C	ENST00000334136.5	+	19	1877	c.1699G>C	c.(1699-1701)Gac>Cac	p.D567H	HDAC6_ENST00000444343.2_Missense_Mutation_p.D581H|HDAC6_ENST00000376619.2_Missense_Mutation_p.D567H			Q9UBN7	HDAC6_HUMAN	histone deacetylase 6	567	Histone deacetylase 2.				aggresome assembly (GO:0070842)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to misfolded protein (GO:0071218)|cellular response to topologically incorrect protein (GO:0035967)|histone deacetylation (GO:0016575)|Hsp90 deacetylation (GO:0070846)|intracellular protein transport (GO:0006886)|lysosome localization (GO:0032418)|macroautophagy (GO:0016236)|misfolded or incompletely synthesized protein catabolic process (GO:0006515)|negative regulation of hydrogen peroxide metabolic process (GO:0010727)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of oxidoreductase activity (GO:0051354)|negative regulation of protein complex disassembly (GO:0043242)|negative regulation of proteolysis (GO:0045861)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-lysine deacetylation (GO:0034983)|polyubiquitinated misfolded protein transport (GO:0070845)|positive regulation of chaperone-mediated protein complex assembly (GO:0090035)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of hydrogen peroxide-mediated programmed cell death (GO:1901300)|positive regulation of receptor biosynthetic process (GO:0010870)|positive regulation of signal transduction (GO:0009967)|protein complex disassembly (GO:0043241)|protein deacetylation (GO:0006476)|protein polyubiquitination (GO:0000209)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of establishment of protein localization (GO:0070201)|regulation of gene expression, epigenetic (GO:0040029)|regulation of microtubule-based movement (GO:0060632)|regulation of receptor activity (GO:0010469)|response to growth factor (GO:0070848)|response to misfolded protein (GO:0051788)|response to organic substance (GO:0010033)|response to toxic substance (GO:0009636)|transcription, DNA-templated (GO:0006351)|tubulin deacetylation (GO:0090042)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)	aggresome (GO:0016235)|axon (GO:0030424)|caveola (GO:0005901)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|dendrite (GO:0030425)|histone deacetylase complex (GO:0000118)|inclusion body (GO:0016234)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|nucleus (GO:0005634)|perikaryon (GO:0043204)|perinuclear region of cytoplasm (GO:0048471)	alpha-tubulin binding (GO:0043014)|beta-catenin binding (GO:0008013)|core promoter binding (GO:0001047)|dynein complex binding (GO:0070840)|enzyme binding (GO:0019899)|histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|Hsp90 protein binding (GO:0051879)|microtubule binding (GO:0008017)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|polyubiquitin binding (GO:0031593)|tau protein binding (GO:0048156)|tubulin deacetylase activity (GO:0042903)|zinc ion binding (GO:0008270)	p.D567Y(1)|p.D567H(1)		breast(2)|endometrium(6)|kidney(5)|large_intestine(8)|lung(9)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	40					Vorinostat(DB02546)	TTCCAACTTTGACTCCATCTA	0.592																																					Pancreas(112;205 1675 2305 8976 15959)	ENST00000334136.5																			2	Substitution - Missense(2)	p.D567Y(1)|p.D567H(1)	prostate(1)|breast(1)	breast(2)|endometrium(6)|kidney(5)|large_intestine(8)|lung(9)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	40						c.(1699-1701)Gac>Cac		histone deacetylase 6	Vorinostat(DB02546)						70	53	59					X																	48674948		2203	4300	6503	SO:0001583	missense	10013				aggresome assembly|cellular response to hydrogen peroxide|Hsp90 deacetylation|lysosome localization|macroautophagy|misfolded or incompletely synthesized protein catabolic process|negative regulation of proteolysis|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|polyubiquitinated misfolded protein transport|positive regulation of apoptosis|positive regulation of cellular chaperone-mediated protein complex assembly|positive regulation of epithelial cell migration|positive regulation of receptor biosynthetic process|positive regulation of signal transduction|regulation of androgen receptor signaling pathway|regulation of receptor activity|response to growth factor stimulus|response to toxin|transcription, DNA-dependent|tubulin deacetylation	aggresome|caveola|cell leading edge|cytosol|histone deacetylase complex|microtubule associated complex|perinuclear region of cytoplasm	actin binding|alpha-tubulin binding|beta-catenin binding|dynein complex binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|Hsp90 protein binding|microtubule binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|polyubiquitin binding|tau protein binding|tubulin deacetylase activity|zinc ion binding	g.chrX:48674948G>C	AF132609	CCDS14306.1	Xp11.23	2014-06-12			ENSG00000094631	ENSG00000094631			14064	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 90"	300272				10220385, 10048485	Standard	NM_006044		Approved	KIAA0901, JM21, HD6, FLJ16239, PPP1R90	uc004dks.1	Q9UBN7	OTTHUMG00000034496	ENST00000334136.5:c.1699G>C	X.37:g.48674948G>C	ENSP00000334061:p.Asp567His					HDAC6_ENST00000376619.2_Missense_Mutation_p.D567H|HDAC6_ENST00000444343.2_Missense_Mutation_p.D581H	p.D567H			Q9UBN7	HDAC6_HUMAN			19	1877	+			567			Histone deacetylase 2.		O94975|Q6NT75|Q7L3E5|Q96CY0	Missense_Mutation	SNP	ENST00000334136.5	37	c.1699G>C	CCDS14306.1	.	.	.	.	.	.	.	.	.	.	G	18.55	3.649137	0.67358	.	.	ENSG00000094631	ENST00000444343;ENST00000334136;ENST00000376619;ENST00000436813	T;T;T	0.71817	-0.6;-0.6;-0.6	5.44	4.46	0.54185	Histone deacetylase domain (2);	0.107096	0.64402	D	0.000016	T	0.77685	0.4167	M	0.71206	2.165	0.80722	D	1	P;D;P	0.63046	0.952;0.992;0.952	P;D;P	0.64687	0.878;0.928;0.878	T	0.79080	-0.1950	10	0.72032	D	0.01	-22.9623	4.2051	0.10485	0.3011:0.0:0.6989:0.0	.	557;215;567	B4DZN1;B3KVK5;Q9UBN7	.;.;HDAC6_HUMAN	H	581;567;567;567	ENSP00000398566:D581H;ENSP00000334061:D567H;ENSP00000365804:D567H	ENSP00000334061:D567H	D	+	1	0	HDAC6	48559892	1.000000	0.71417	0.943000	0.38184	0.813000	0.45954	3.368000	0.52357	2.265000	0.75225	0.523000	0.50628	GAC		0.592	HDAC6-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000083394.2	NM_006044		16	21	0	0	0	1	0	16	21					C	48674948	G	C	48674948	3	2	42	1	0	0	0	0	1	0	0	0	7011	1290	45	5	1769	5	HDAC6	23	48674948	Missense_Mutation	SNP	G	TCGA-CH-5792-01A-11D-1576-08	1	48674948	106595612	46	2288	15	2									
JAK1	3716	broad.mit.edu	37	chr1	65310466	65310466	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	acagcaccgtaatggggatgCcggggtcactgagcttgatg	9	8	15	9	2	1	2	1	2	0	0	1	3	1	3	2	4	3	3	2	4	1	2			TCGA-CH-5794-01A-11D-1576-08	TCGA-CH-5794-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c91139ac-56d3-49cd-852b-9732dfb3e77e	f61e6c4e-baf6-48ca-aecd-0e3ca77aeeb0	g.chr1:65310466C>T	ENST00000342505.4	-	16	2470	c.2222G>A	c.(2221-2223)gGc>gAc	p.G741D	JAK1_ENST00000465376.1_5'UTR	NM_002227.2	NP_002218.2	P23458	JAK1_HUMAN	Janus kinase 1	741	Protein kinase 1. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cytokine-mediated signaling pathway (GO:0019221)|enzyme linked receptor protein signaling pathway (GO:0007167)|interferon-gamma-mediated signaling pathway (GO:0060333)|interleukin-2-mediated signaling pathway (GO:0038110)|intracellular signal transduction (GO:0035556)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to antibiotic (GO:0046677)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|growth hormone receptor binding (GO:0005131)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)	p.G741D(1)		breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(48)|kidney(3)|large_intestine(8)|liver(2)|lung(19)|ovary(1)|prostate(12)|skin(1)|soft_tissue(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	120				BRCA - Breast invasive adenocarcinoma(111;0.0485)	Ruxolitinib(DB08877)|Tofacitinib(DB08895)	AATGGGGATGCCGGGGTCACT	0.587			Mis		ALL																																	ENST00000342505.4				Dom	yes		1	1p32.3-p31.3	3716	Mis	Janus kinase 1			L			ALL		1	Substitution - Missense(1)	p.G741D(1)	prostate(1)	breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(48)|kidney(3)|large_intestine(8)|liver(2)|lung(19)|ovary(1)|prostate(12)|skin(1)|soft_tissue(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						c.(2221-2223)gGc>gAc		Janus kinase 1							90	106	100					1																	65310466		2123	4230	6353	SO:0001583	missense	3716				interferon-gamma-mediated signaling pathway|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to antibiotic|type I interferon-mediated signaling pathway	cytoskeleton|cytosol|endomembrane system|membrane|nucleus	ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity	g.chr1:65310466C>T	M64174	CCDS41346.1	1p32.3-p31.3	2009-07-10	2009-04-23		ENSG00000162434	ENSG00000162434	2.7.10.1		6190	protein-coding gene	gene with protein product		147795		JAK1B		1848670, 7698020	Standard	NM_002227		Approved	JAK1A, JTK3	uc001dbu.1	P23458	OTTHUMG00000009310	ENST00000342505.4:c.2222G>A	1.37:g.65310466C>T	ENSP00000343204:p.Gly741Asp					JAK1_ENST00000465376.1_5'UTR	p.G741D	NM_002227.2	NP_002218.2	P23458	JAK1_HUMAN		BRCA - Breast invasive adenocarcinoma(111;0.0485)	16	2470	-			741			Protein kinase 1.		Q59GQ2|Q9UD26	Missense_Mutation	SNP	ENST00000342505.4	37	c.2222G>A	CCDS41346.1	.	.	.	.	.	.	.	.	.	.	C	33	5.223782	0.95139	.	.	ENSG00000162434	ENST00000342505	D	0.82433	-1.61	5.0	5.0	0.66597	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	.	.	.	.	D	0.94650	0.8275	H	0.99444	4.57	0.80722	D	1	D	0.67145	0.996	P	0.61201	0.885	D	0.96912	0.9668	9	0.87932	D	0	-7.4769	18.5015	0.90882	0.0:1.0:0.0:0.0	.	741	P23458	JAK1_HUMAN	D	741	ENSP00000343204:G741D	ENSP00000343204:G741D	G	-	2	0	JAK1	65083054	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	7.239000	0.78182	2.613000	0.88420	0.563000	0.77884	GGC		0.587	JAK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025791.1	NM_002227		23	41	0	0	0	1	0	23	41					T	65310466	C	T	65310466	3	4	43	1	0	0	0	0	1	0	0	0	7937	739	26	3	1282	3	JAK1	1	65310466	Missense_Mutation	SNP	C	TCGA-CH-5794-01A-11D-1576-08		65310466	183940155	1	2289											
SPTA1	6708	broad.mit.edu	37	chr1	158585065	158585065	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aacccaagctggtagagctgGtcccactgctgagccaatcc	10	7	10	14	0	0	2	0	1	0	1	2	2	2	2	4	2	5	4	4	2	4	1			TCGA-CH-5794-01A-11D-1576-08	TCGA-CH-5794-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c91139ac-56d3-49cd-852b-9732dfb3e77e	f61e6c4e-baf6-48ca-aecd-0e3ca77aeeb0	g.chr1:158585065G>A	ENST00000368147.4	-	48	6909	c.6729C>T	c.(6727-6729)gaC>gaT	p.D2243D		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	2243					actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)	p.D2243D(1)		NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					GGTAGAGCTGGTCCCACTGCT	0.542																																						ENST00000368148.3																			1	Substitution - coding silent(1)	p.D2243D(1)	prostate(1)	NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307						c.(6727-6729)gaC>gaT		spectrin, alpha, erythrocytic 1 (elliptocytosis 2)							162	169	167					1																	158585065		2125	4244	6369	SO:0001819	synonymous_variant	6708				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	g.chr1:158585065G>A	M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"EF-hand domain containing"	11272	protein-coding gene	gene with protein product	"elliptocytosis 2"	182860	"spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.6729C>T	1.37:g.158585065G>A						SPTA1_ENST00000368147.3_Silent_p.D2240D	p.D2243D	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN			48	6909	-	all_hematologic(112;0.0378)		2243					Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Silent	SNP	ENST00000368147.4	37	c.6729C>T	CCDS41423.1																																																																																				0.542	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126		87	233	0	0	0	1	0	87	233					A	158585065	G	A	158585065	2	1	43	1	0	0	0	0	0	0	0	1	15115	1252	44	3		3	SPTA1	1	158585065	Silent	SNP	G	TCGA-CH-5794-01A-11D-1576-08	93274599	158585065	90665556	2	2290											
CFHR2	3080	broad.mit.edu	37	chr1	196918732	196918732	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttcaaaatccttttggactcGcataacgtgcgcagaagaag	13	10	9	9	3	1	2	1	0	0	2	3	3	2	3	1	1	2	2	1	1	5	4	rs144596551		TCGA-CH-5794-01A-11D-1576-08	TCGA-CH-5794-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c91139ac-56d3-49cd-852b-9732dfb3e77e	f61e6c4e-baf6-48ca-aecd-0e3ca77aeeb0	g.chr1:196918732G>A	ENST00000367415.5	+	2	306	c.206G>A	c.(205-207)cGc>cAc	p.R69H	CFHR2_ENST00000476712.2_Missense_Mutation_p.R69H|CFHR2_ENST00000367421.3_Missense_Mutation_p.R69H|CFHR2_ENST00000496448.1_Intron	NM_005666.2	NP_005657.1	P36980	FHR2_HUMAN	complement factor H-related 2	69	Sushi 1. {ECO:0000255|PROSITE- ProRule:PRU00302}.					extracellular region (GO:0005576)		p.R69H(1)		large_intestine(2)|ovary(1)|skin(3)	6						TTTTGGACTCGCATAACGTGC	0.393																																						ENST00000367415.4																			1	Substitution - Missense(1)	p.R69H(1)	ovary(1)	large_intestine(2)|ovary(1)|skin(3)	6						c.(205-207)cGc>cAc		complement factor H-related 2							97	87	90					1																	196918732		2203	4300	6503	SO:0001583	missense	3080					extracellular region		g.chr1:196918732G>A	X64877	CCDS30959.1	1q31.3	2008-02-05	2004-08-09	2006-02-28	ENSG00000080910	ENSG00000080910		"Complement system"	4890	protein-coding gene	gene with protein product		600889	"H factor (complement)-like 3"	HFL3, CFHL2		1533657, 7672821	Standard	NM_005666		Approved	FHR2	uc001gtq.1	P36980	OTTHUMG00000036518	ENST00000367415.5:c.206G>A	1.37:g.196918732G>A	ENSP00000356385:p.Arg69His					CFHR2_ENST00000367421.3_Missense_Mutation_p.R69H|CFHR2_ENST00000476712.1_3'UTR	p.R69H	NM_005666.2	NP_005657.1	P36980	FHR2_HUMAN			2	320	+			69			Sushi 1.		Q14310|Q5T9T1	Missense_Mutation	SNP	ENST00000367415.5	37	c.206G>A	CCDS30959.1	.	.	.	.	.	.	.	.	.	.	.	11.75	1.733228	0.30684	.	.	ENSG00000080910	ENST00000367421;ENST00000367415	T;T	0.64803	-0.12;-0.12	3.15	-6.29	0.02013	Complement control module (2);Sushi/SCR/CCP (2);	1.243780	0.06385	N	0.715952	T	0.63873	0.2548	L	0.44542	1.39	0.09310	N	1	D	0.89917	1.0	D	0.66847	0.947	T	0.61540	-0.7042	10	0.42905	T	0.14	.	5.3275	0.15915	0.3221:0.4369:0.241:0.0	.	69	P36980	FHR2_HUMAN	H	69	ENSP00000356391:R69H;ENSP00000356385:R69H	ENSP00000356385:R69H	R	+	2	0	CFHR2	195185355	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-3.088000	0.00610	-1.636000	0.01533	-0.357000	0.07601	CGC		0.393	CFHR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088815.2	NM_005666		4	110	0	0	0	1	0	4	110					A	196918732	G	A	196918732	3	1	43	1	0	0	0	0	1	0	0	0	3285	1087	38	1	212	1	CFHR2	1	196918732	Missense_Mutation	SNP	G	TCGA-CH-5794-01A-11D-1576-08	38333667	196918732	52331889	3	2291											
CCDC121	79635	broad.mit.edu	37	chr2	27850383	27850383	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gcttcaaactggattggataTtttccttttgcaagagcgct	9	15	9	8	1	1	1	1	0	0	1	2	3	2	3	1	2	3	3	1	2	3	7	rs367976168		TCGA-CH-5794-01A-11D-1576-08	TCGA-CH-5794-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c91139ac-56d3-49cd-852b-9732dfb3e77e	f61e6c4e-baf6-48ca-aecd-0e3ca77aeeb0	g.chr2:27850383T>C	ENST00000324364.3	-	2	464	c.284A>G	c.(283-285)aAt>aGt	p.N95S	GPN1_ENST00000610189.1_5'Flank|GPN1_ENST00000264718.3_5'Flank|ZNF512_ENST00000556601.1_Intron|GPN1_ENST00000458167.2_5'Flank|GPN1_ENST00000407583.3_5'Flank|RP11-158I13.2_ENST00000505973.1_RNA|GPN1_ENST00000515877.1_5'Flank|CCDC121_ENST00000394775.3_Missense_Mutation_p.N257S|GPN1_ENST00000503738.1_5'Flank|GPN1_ENST00000424214.1_5'Flank	NM_024584.4	NP_078860.2	Q6ZUS5	CC121_HUMAN	coiled-coil domain containing 121	95								p.N95S(1)		breast(1)|endometrium(3)|large_intestine(2)|lung(6)|prostate(2)	14	Acute lymphoblastic leukemia(172;0.155)					GGATTGGATATTTTCCTTTTG	0.393																																						ENST00000324364.3																			1	Substitution - Missense(1)	p.N95S(1)	prostate(1)	breast(1)|endometrium(3)|large_intestine(2)|lung(6)|prostate(2)	14						c.(283-285)aAt>aGt		coiled-coil domain containing 121							184	187	186					2																	27850383		2203	4300	6503	SO:0001583	missense	79635							g.chr2:27850383T>C	AK125354	CCDS1759.1, CCDS46247.1	2p23.2	2008-02-05			ENSG00000176714	ENSG00000176714			25833	protein-coding gene	gene with protein product							Standard	NM_024584		Approved	FLJ43364, FLJ13646	uc002rld.3	Q6ZUS5	OTTHUMG00000128427	ENST00000324364.3:c.284A>G	2.37:g.27850383T>C	ENSP00000339087:p.Asn95Ser					ZNF512_ENST00000556601.1_Intron|RP11-158I13.2_ENST00000505973.1_RNA|CCDC121_ENST00000394775.3_Missense_Mutation_p.N257S	p.N95S	NM_024584.4	NP_078860.2	Q6ZUS5	CC121_HUMAN			2	464	-	Acute lymphoblastic leukemia(172;0.155)		95					B3KW66|J3KQZ8|Q9H8G6	Missense_Mutation	SNP	ENST00000324364.3	37	c.284A>G	CCDS1759.1	.	.	.	.	.	.	.	.	.	.	T	14.69	2.610830	0.46527	.	.	ENSG00000176714	ENST00000324364;ENST00000394775	T;T	0.30448	1.53;1.53	5.56	1.2	0.21068	.	2.090370	0.01970	N	0.043992	T	0.16811	0.0404	N	0.08118	0	0.09310	N	1	B	0.21452	0.056	B	0.14023	0.01	T	0.16660	-1.0395	10	0.33141	T	0.24	-13.5985	5.1683	0.15098	0.3106:0.0:0.1606:0.5288	.	95	Q6ZUS5	CC121_HUMAN	S	95;257	ENSP00000339087:N95S;ENSP00000412150:N257S	ENSP00000339087:N95S	N	-	2	0	CCDC121	27703887	0.002000	0.14202	0.020000	0.16555	0.436000	0.31835	0.318000	0.19504	0.887000	0.36136	0.482000	0.46254	AAT		0.393	CCDC121-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000250215.1	NM_024584		158	322	0	0	0	1	0	158	322					C	27850383	T	C	27850383	3	2	43	1	0	0	0	0	1	0	0	0	2757	1493	52	4	556	4	CCDC121	2	27850383	Missense_Mutation	SNP	T	TCGA-CH-5794-01A-11D-1576-08		27850383	215348990	4	2292											
ITGA4	3676	broad.mit.edu	37	chr2	182376434	182376434	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttatttccagataaacttTgcaaggttttgtgcccatga	10	17	7	7	0	0	2	0	1	0	1	1	2	1	2	2	1	3	2	2	1	4	7			TCGA-CH-5794-01A-11D-1576-08	TCGA-CH-5794-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c91139ac-56d3-49cd-852b-9732dfb3e77e	f61e6c4e-baf6-48ca-aecd-0e3ca77aeeb0	g.chr2:182376434T>C	ENST00000397033.2	+	17	2284	c.1854T>C	c.(1852-1854)ttT>ttC	p.F618F		NM_000885.4	NP_000876.3	P13612	ITA4_HUMAN	integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor)	618					B cell differentiation (GO:0030183)|blood coagulation (GO:0007596)|blood vessel remodeling (GO:0001974)|cell-matrix adhesion (GO:0007160)|cell-matrix adhesion involved in ameboidal cell migration (GO:0003366)|chorio-allantoic fusion (GO:0060710)|endodermal cell differentiation (GO:0035987)|extracellular matrix organization (GO:0030198)|face development (GO:0060324)|heart development (GO:0007507)|heterophilic cell-cell adhesion (GO:0007157)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte tethering or rolling (GO:0050901)|negative regulation of protein homodimerization activity (GO:0090074)|receptor clustering (GO:0043113)|regulation of immune response (GO:0050776)|substrate adhesion-dependent cell spreading (GO:0034446)|T cell migration (GO:0072678)	cell surface (GO:0009986)|cell-cell junction (GO:0005911)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integrin alpha4-beta7 complex (GO:0034669)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|metal ion binding (GO:0046872)	p.F618F(2)		breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.0593)		Natalizumab(DB00108)|Tinzaparin(DB06822)	AGATAAACTTTGCAAGGTTTT	0.303																																						ENST00000397033.2																			2	Substitution - coding silent(2)	p.F618F(2)	prostate(2)	breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58						c.(1852-1854)ttT>ttC		integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor)	Natalizumab(DB00108)						132	124	127					2																	182376434		1796	4065	5861	SO:0001819	synonymous_variant	3676				blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response	integrin complex	identical protein binding|receptor activity	g.chr2:182376434T>C		CCDS42788.1	2q31-q32	2010-03-23			ENSG00000115232	ENSG00000115232		"CD molecules", "Integrins"	6140	protein-coding gene	gene with protein product		192975		CD49D		1537388	Standard	NM_000885		Approved	CD49d	uc002unu.3	P13612	OTTHUMG00000154212	ENST00000397033.2:c.1854T>C	2.37:g.182376434T>C							p.F618F	NM_000885.4	NP_000876.3	P13612	ITA4_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0593)		17	2284	+			618					D3DPG4|Q7Z4L6	Silent	SNP	ENST00000397033.2	37	c.1854T>C	CCDS42788.1																																																																																				0.303	ITGA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334427.1			62	181	0	0	0	1	0	62	181					C	182376434	T	C	182376434	2	2	43	1	0	0	0	0	0	0	0	1	7878	1809	63	4		4	ITGA4	2	182376434	Silent	SNP	T	TCGA-CH-5794-01A-11D-1576-08	154526051	182376434	60822939	5	2293											
AGFG1	3267	broad.mit.edu	37	chr2	228389506	228389506	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtaggtcgttctcaagggcAgcagcaggagaagaagcaat	13	7	14	7	1	1	2	1	0	1	2	3	3	1	2	0	3	3	6	0	3	5	2			TCGA-CH-5794-01A-11D-1576-08	TCGA-CH-5794-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c91139ac-56d3-49cd-852b-9732dfb3e77e	f61e6c4e-baf6-48ca-aecd-0e3ca77aeeb0	g.chr2:228389506A>C	ENST00000310078.8	+	5	829	c.569A>C	c.(568-570)cAg>cCg	p.Q190P	AGFG1_ENST00000373671.3_Missense_Mutation_p.Q190P|AGFG1_ENST00000486932.1_3'UTR|AGFG1_ENST00000409171.1_Missense_Mutation_p.Q190P|AGFG1_ENST00000409315.1_Missense_Mutation_p.Q190P|AGFG1_ENST00000409979.2_Missense_Mutation_p.Q190P	NM_001135188.1|NM_001135189.1|NM_004504.4	NP_001128660.1|NP_001128661.1|NP_004495.2	P52594	AGFG1_HUMAN	ArfGAP with FG repeats 1	190					cell differentiation (GO:0030154)|mRNA export from nucleus (GO:0006406)|multicellular organismal development (GO:0007275)|regulation of ARF GTPase activity (GO:0032312)|spermatogenesis (GO:0007283)	cytoplasmic vesicle (GO:0031410)|intracellular membrane-bounded organelle (GO:0043231)|nuclear pore (GO:0005643)	ARF GTPase activator activity (GO:0008060)|DNA binding (GO:0003677)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)	p.Q190P(1)		central_nervous_system(1)|endometrium(1)|large_intestine(5)|liver(2)|lung(2)|ovary(1)|prostate(1)|skin(4)|stomach(1)	18						TCTCAAGGGCAGCAGCAGGAG	0.423																																						ENST00000310078.7																			1	Substitution - Missense(1)	p.Q190P(1)	prostate(1)	central_nervous_system(1)|endometrium(1)|large_intestine(5)|liver(2)|lung(2)|ovary(1)|prostate(1)|skin(4)|stomach(1)	18						c.(568-570)cAg>cCg		ArfGAP with FG repeats 1							164	149	154					2																	228389506		2203	4300	6503	SO:0001583	missense	3267				cell differentiation|mRNA export from nucleus|multicellular organismal development|regulation of ARF GTPase activity|spermatogenesis	cytoplasmic membrane-bounded vesicle|Golgi apparatus|nuclear pore	ARF GTPase activator activity|DNA binding|protein binding|RNA binding|zinc ion binding	g.chr2:228389506A>C		CCDS2467.1, CCDS46533.1, CCDS46534.1, CCDS46535.1	2q36	2009-11-30	2008-09-22	2008-09-22	ENSG00000173744	ENSG00000173744		"ADP-ribosylation factor GTPase activating proteins"	5175	protein-coding gene	gene with protein product		600862	"HIV-1 Rev binding protein"	HRB		7637788	Standard	NM_004504		Approved	RIP, RAB	uc002vpd.2	P52594	OTTHUMG00000133186	ENST00000310078.8:c.569A>C	2.37:g.228389506A>C	ENSP00000312059:p.Gln190Pro					AGFG1_ENST00000373671.3_Missense_Mutation_p.Q190P|AGFG1_ENST00000409315.1_Missense_Mutation_p.Q190P|AGFG1_ENST00000409171.1_Missense_Mutation_p.Q190P|AGFG1_ENST00000409979.2_Missense_Mutation_p.Q190P|AGFG1_ENST00000486932.1_3'UTR	p.Q190P	NM_001135188.1|NM_004504.4	NP_001128660.1|NP_004495.2	P52594	AGFG1_HUMAN			5	829	+			190					B3KUL1|E9PHX7|Q15277|Q4VAS0|Q4VAS1|Q4VAS3|Q53QT8|Q53R11	Missense_Mutation	SNP	ENST00000310078.8	37	c.569A>C	CCDS2467.1	.	.	.	.	.	.	.	.	.	.	A	12.99	2.102420	0.37145	.	.	ENSG00000173744	ENST00000409979;ENST00000542592;ENST00000310078;ENST00000409315;ENST00000373671;ENST00000409171;ENST00000456594	T;T;T;T;T	0.25414	1.81;1.81;1.83;1.86;1.8	6.08	6.08	0.98989	.	0.056626	0.64402	D	0.000001	T	0.23846	0.0577	L	0.50333	1.59	0.53688	D	0.999971	B;B;B;B	0.31680	0.003;0.335;0.138;0.063	B;B;B;B	0.27887	0.005;0.084;0.073;0.014	T	0.04255	-1.0965	10	0.17832	T	0.49	-3.2143	15.2222	0.73320	1.0:0.0:0.0:0.0	.	190;190;190;190	P52594-2;P52594-3;E9PHX7;P52594	.;.;.;AGFG1_HUMAN	P	190;175;190;190;190;190;112	ENSP00000387282:Q190P;ENSP00000312059:Q190P;ENSP00000387154:Q190P;ENSP00000362775:Q190P;ENSP00000387218:Q190P	ENSP00000312059:Q190P	Q	+	2	0	AGFG1	228097750	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.680000	0.54641	2.333000	0.79357	0.482000	0.46254	CAG		0.423	AGFG1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256895.2	NM_004504		57	194	0	0	0	1	0	57	194					C	228389506	A	C	228389506	3	2	43	1	0	0	0	0	1	0	0	0	380	188	7	5	587	5	AGFG1	2	228389506	Missense_Mutation	SNP	A	TCGA-CH-5794-01A-11D-1576-08	46013072	228389506	14809867	6	2294											
VGLL4	9686	broad.mit.edu	37	chr3	11744501	11744501	+	De_novo_Start_OutOfFrame	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggacaaaacatccaatggcGtctccattcctggttggagc	10	10	10	11	1	1	0	0	0	1	0	4	2	3	2	3	4	2	1	3	4	3	2	rs376550793		TCGA-CH-5794-01A-11D-1576-08	TCGA-CH-5794-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c91139ac-56d3-49cd-852b-9732dfb3e77e	f61e6c4e-baf6-48ca-aecd-0e3ca77aeeb0	g.chr3:11744501G>A	ENST00000404339.1	-	0	358				VGLL4_ENST00000273038.3_Missense_Mutation_p.T3M			Q14135	VGLL4_HUMAN	vestigial-like family member 4						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)		p.T3M(1)		NS(1)|endometrium(1)|large_intestine(1)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10				LUSC - Lung squamous cell carcinoma(1;0.089)|Lung(1;0.111)		ATCCAATGGCGTCTCCATTCC	0.368																																						ENST00000404339.1																			1	Substitution - Missense(1)	p.T3M(1)	prostate(1)	NS(1)|endometrium(1)|large_intestine(1)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10								vestigial like 4 (Drosophila)		G	MET/THR	0,4406		0,0,2203	53	54	54		8	4.4	0.9	3		54	1,8599	1.2+/-3.3	0,1,4299	no	missense	VGLL4	NM_014667.2	81	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		3/291	11744501	1,13005	2203	4300	6503			9686				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chr3:11744501G>A	D50911	CCDS2606.1, CCDS46754.1, CCDS46755.1, CCDS46756.1, CCDS68342.1, CCDS68343.1	3p25.2	2014-03-03	2014-03-03		ENSG00000144560	ENSG00000144560			28966	protein-coding gene	gene with protein product			"vestigial like 4 (Drosophila)"			8590280, 15140898	Standard	NM_001284390		Approved	KIAA0121	uc010hdx.1	Q14135	OTTHUMG00000129739	ENST00000404339.1:c.-111C>T	3.37:g.11744501G>A						VGLL4_ENST00000273038.3_Missense_Mutation_p.T3M				Q14135	VGLL4_HUMAN		LUSC - Lung squamous cell carcinoma(1;0.089)|Lung(1;0.111)	0	358	-								B4DTS7|J3KN68|Q7L5V0|Q9BQ78	Translation_Start_Site	SNP	ENST00000404339.1	37			.	.	.	.	.	.	.	.	.	.	G	11.59	1.684479	0.29872	0.0	1.16E-4	ENSG00000144560	ENST00000273038;ENST00000445411;ENST00000418000;ENST00000417206;ENST00000419541	T;T;T;T;T	0.52754	0.67;0.67;0.71;0.65;0.66	5.28	4.41	0.53225	.	0.459089	0.23016	N	0.052908	T	0.17959	0.0431	N	0.01410	-0.885	0.80722	D	1	P	0.46952	0.887	B	0.36030	0.216	T	0.20706	-1.0267	10	0.87932	D	0	.	9.9396	0.41572	0.0945:0.0:0.9055:0.0	.	3	Q14135	VGLL4_HUMAN	M	3	ENSP00000273038:T3M;ENSP00000412923:T3M;ENSP00000394439:T3M;ENSP00000391932:T3M;ENSP00000395557:T3M	ENSP00000273038:T3M	T	-	2	0	VGLL4	11719501	1.000000	0.71417	0.875000	0.34327	0.987000	0.75469	4.954000	0.63631	1.358000	0.45922	0.462000	0.41574	ACG		0.368	VGLL4-201	KNOWN	basic	protein_coding	protein_coding		NM_014667		11	44	0	0	0	1	0	11	44					A	11744501	G	A	11744501	1	1	43	1	0	1	0	0	0	0	0	0	17158	1145	40	1		1	VGLL4	3	11744501	De_novo_Start_OutOfFrame	SNP	G	TCGA-CH-5794-01A-11D-1576-08		11744501	186277929	7	2295											
AMIGO3	29925	broad.mit.edu	37	chr3	49755885	49755885	+	3'UTR	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgctcctgtacgttgcctatGgccaagctgccgtcggccag	5	10	12	14	3	0	0	0	0	0	0	2	0	1	0	5	2	5	4	5	2	3	3			TCGA-CH-5794-01A-11D-1576-08	TCGA-CH-5794-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c91139ac-56d3-49cd-852b-9732dfb3e77e	f61e6c4e-baf6-48ca-aecd-0e3ca77aeeb0	g.chr3:49755885G>A	ENST00000480687.1	-	0	4499				RNF123_ENST00000327697.6_Intron|RNF123_ENST00000433785.1_Intron|AMIGO3_ENST00000535833.1_Silent_p.A338A|RNF123_ENST00000497099.1_3'UTR|AMIGO3_ENST00000320431.7_Silent_p.A338A			Q9Y5P6	GMPPB_HUMAN	GDP-mannose pyrophosphorylase B						cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|GDP-mannose biosynthetic process (GO:0009298)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)|mannose-1-phosphate guanylyltransferase activity (GO:0004475)	p.A338A(1)		endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|skin(1)	6				BRCA - Breast invasive adenocarcinoma(193;4.53e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		CGTTGCCTATGGCCAAGCTGC	0.667																																						ENST00000535833.1																			1	Substitution - coding silent(1)	p.A338A(1)	prostate(1)	endometrium(1)|pancreas(1)|prostate(2)|urinary_tract(1)	5						c.(1012-1014)gcC>gcT		adhesion molecule with Ig-like domain 3							45	48	47					3																	49755885		2203	4300	6503	SO:0001624	3_prime_UTR_variant	386724				heterophilic cell-cell adhesion	integral to membrane		g.chr3:49755885G>A	AF135421	CCDS2802.1, CCDS2803.1	3p21.31	2008-02-05			ENSG00000173540	ENSG00000173540	2.7.7.22		22932	protein-coding gene	gene with protein product		615320					Standard	NM_013334		Approved	KIAA1851	uc003cxl.1	Q9Y5P6	OTTHUMG00000158151	ENST00000480687.1:c.*3300C>T	3.37:g.49755885G>A						RNF123_ENST00000327697.6_Intron|RNF123_ENST00000497099.1_3'UTR|RNF123_ENST00000433785.1_Intron|AMIGO3_ENST00000320431.7_Silent_p.A338A|GMPPB_ENST00000480687.1_3'UTR	p.A338A			Q86WK7	AMGO3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	10	4464	-			338			Ig-like C2-type.		A8K6N5|Q9H7U3	Silent	SNP	ENST00000480687.1	37	c.1014C>T	CCDS2803.1																																																																																				0.667	GMPPB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350291.1	NM_013334		9	34	0	0	0	1	0	9	34					A	49755885	G	A	49755885	1	1	43	0	1	0	0	0	0	0	0	0	577	1335	47	3		3	AMIGO3	3	49755885	3'UTR	SNP	G	TCGA-CH-5794-01A-11D-1576-08	38011384	49755885	148266545	8	2296											
PDZRN3	23024	broad.mit.edu	37	chr3	73432968	73432968	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	caccttccactccatgcgcgGctccgacggggtgggagagc	6	6	14	15	4	0	1	0	0	0	1	3	3	3	1	4	4	2	1	4	4	0	1			TCGA-CH-5794-01A-11D-1576-08	TCGA-CH-5794-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c91139ac-56d3-49cd-852b-9732dfb3e77e	f61e6c4e-baf6-48ca-aecd-0e3ca77aeeb0	g.chr3:73432968G>A	ENST00000263666.4	-	10	2863	c.2749C>T	c.(2749-2751)Ccg>Tcg	p.P917S	PDZRN3_ENST00000535920.1_Missense_Mutation_p.P639S|PDZRN3_ENST00000462146.2_Missense_Mutation_p.P574S|PDZRN3_ENST00000466348.1_5'Flank|PDZRN3_ENST00000466780.1_Missense_Mutation_p.P574S|PDZRN3_ENST00000479530.1_Missense_Mutation_p.P634S	NM_015009.1	NP_055824.1	Q9UPQ7	PZRN3_HUMAN	PDZ domain containing ring finger 3	917					neuromuscular junction development (GO:0007528)|protein ubiquitination (GO:0016567)	neuromuscular junction (GO:0031594)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)		TCCATGCGCGGCTCCGACGGG	0.652																																						ENST00000263666.4																			0				breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69						c.(2749-2751)Ccg>Tcg		PDZ domain containing ring finger 3							51	46	48					3																	73432968		2203	4300	6503	SO:0001583	missense	23024						ubiquitin-protein ligase activity|zinc ion binding	g.chr3:73432968G>A	AB029018	CCDS33789.1	3p14.1	2013-01-09	2008-08-14		ENSG00000121440	ENSG00000121440		"RING-type (C3HC4) zinc fingers"	17704	protein-coding gene	gene with protein product	"likely ortholog of mouse semaF cytoplasmic domain associated protein 3"	609729				10470851	Standard	XM_005264718		Approved	KIAA1095, SEMACAP3, LNX3	uc003dpl.1	Q9UPQ7	OTTHUMG00000158865	ENST00000263666.4:c.2749C>T	3.37:g.73432968G>A	ENSP00000263666:p.Pro917Ser					PDZRN3_ENST00000479530.1_Missense_Mutation_p.P634S|PDZRN3_ENST00000462146.2_Missense_Mutation_p.P574S|PDZRN3_ENST00000466780.1_Missense_Mutation_p.P574S|PDZRN3_ENST00000535920.1_Missense_Mutation_p.P639S	p.P917S	NM_015009.1	NP_055824.1	Q9UPQ7	PZRN3_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)	10	2863	-		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)	917					A7MCZ6|Q8N2N7|Q96CC2|Q9NSQ2	Missense_Mutation	SNP	ENST00000263666.4	37	c.2749C>T	CCDS33789.1	.	.	.	.	.	.	.	.	.	.	G	14.99	2.699383	0.48307	.	.	ENSG00000121440	ENST00000263666;ENST00000535920;ENST00000462146;ENST00000466780;ENST00000479530	T;T;T;T;T	0.41758	0.99;0.99;0.99;0.99;0.99	5.4	4.53	0.55603	.	0.106561	0.64402	D	0.000003	T	0.41880	0.1178	L	0.50333	1.59	0.80722	D	1	B;P;B;P	0.49090	0.247;0.919;0.403;0.819	B;B;B;B	0.43413	0.298;0.419;0.371;0.272	T	0.32955	-0.9887	10	0.40728	T	0.16	.	15.6261	0.76859	0.0:0.1462:0.8538:0.0	.	639;634;634;917	F5H8I9;B7ZAG0;B7Z5X9;Q9UPQ7	.;.;.;PZRN3_HUMAN	S	917;639;574;574;634	ENSP00000263666:P917S;ENSP00000442026:P639S;ENSP00000418168:P574S;ENSP00000418484:P574S;ENSP00000418624:P634S	ENSP00000263666:P917S	P	-	1	0	PDZRN3	73515658	1.000000	0.71417	0.139000	0.22197	0.243000	0.25628	4.393000	0.59665	1.254000	0.44035	0.655000	0.94253	CCG		0.652	PDZRN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352460.1	XM_041363		3	81	0	0	0	1	0	3	81					A	73432968	G	A	73432968	3	1	43	1	0	0	0	0	1	0	0	0	11709	1203	42	3	455	3	PDZRN3	3	73432968	Missense_Mutation	SNP	G	TCGA-CH-5794-01A-11D-1576-08	23677083	73432968	124589462	9	2297											
IQCJ	654502	broad.mit.edu	37	chr3	158980372	158980373	+	Frame_Shift_Ins	INS	-	-	G																															cgagagtacctgcagcggcaINSggagcccctggggaagagga																										TCGA-CH-5794-01A-11D-1576-08	TCGA-CH-5794-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c91139ac-56d3-49cd-852b-9732dfb3e77e	f61e6c4e-baf6-48ca-aecd-0e3ca77aeeb0	g.chr3:158980372_158980373insG	ENST00000451172.1	+	4	296_297	c.191_192insG	c.(190-195)caggagfs	p.E65fs	IQCJ-SCHIP1_ENST00000467442.1_3'UTR|IQCJ_ENST00000481796.1_3'UTR|IQCJ_ENST00000397832.2_Frame_Shift_Ins_p.E65fs|IQCJ_ENST00000482126.1_Frame_Shift_Ins_p.E38fs|IQCJ-SCHIP1_ENST00000485419.1_Frame_Shift_Ins_p.E65fs|IQCJ-SCHIP1_ENST00000476809.1_Frame_Shift_Ins_p.E38fs	NM_001042705.2	NP_001036170.1	Q1A5X6	IQCJ_HUMAN	IQ motif containing J	65	IQ.									cervix(1)|endometrium(2)|large_intestine(2)|lung(10)	15			LUSC - Lung squamous cell carcinoma(72;0.00523)|Lung(72;0.00534)			CTGCAGCGGCAGGAGCCCCTGG	0.54																																						ENST00000485419.1																			0				central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(7)	12						c.(190-192)cgafs																																						SO:0001589	frameshift_variant	0					cytoplasm	identical protein binding|protein binding	g.chr3:158980372_158980373insG	DQ309553, DQ309554	CCDS46946.1, CCDS46947.1, CCDS56290.1	3q25.32	2011-03-24			ENSG00000214216	ENSG00000214216			32406	protein-coding gene	gene with protein product		611622				17045569	Standard	NM_001042705		Approved			Q1A5X6	OTTHUMG00000166440	ENST00000451172.1:c.193dupG	3.37:g.158980374_158980374dupG	ENSP00000402153:p.Glu65fs					IQCJ_ENST00000397832.2_Frame_Shift_Ins_p.R64fs|IQCJ_ENST00000482126.1_Frame_Shift_Ins_p.R37fs|IQCJ_ENST00000481796.1_3'UTR|IQCJ-SCHIP1_ENST00000476809.1_Frame_Shift_Ins_p.R37fs|IQCJ_ENST00000451172.1_Frame_Shift_Ins_p.R64fs|IQCJ-SCHIP1_ENST00000467442.1_3'UTR	p.R64fs	NM_001197113.1	NP_001184042.1	Q9P0W5	SCHI1_HUMAN			4	360_361	+			0			Ser-rich.		B7ZMM2|B9EH97|Q1A5X5	Frame_Shift_Ins	INS	ENST00000451172.1	37	c.191_192insG	CCDS46946.1																																																																																				0.54	IQCJ-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000352395.1	NM_001042705.1		7	250						7	250	---	---	---	---	G	158980373	-	G	158980372	7	5	43	1	0	1	1	0	0	0	0	0	7812	188	7	0	205	0	IQCJ	3	158980372	Frame_Shift_Ins	INS	-	TCGA-CH-5794-01A-11D-1576-08	85547404	158980372	39042058	10	2298											
GPR160	26996	broad.mit.edu	37	chr3	169802125	169802125	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcttgtatagattattgccTgaatttctctaaaacaacca	14	14	5	8	0	1	2	0	1	1	1	2	2	1	2	2	0	4	2	2	0	7	7			TCGA-CH-5794-01A-11D-1576-08	TCGA-CH-5794-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c91139ac-56d3-49cd-852b-9732dfb3e77e	f61e6c4e-baf6-48ca-aecd-0e3ca77aeeb0	g.chr3:169802125T>C	ENST00000355897.5	+	4	973	c.365T>C	c.(364-366)cTg>cCg	p.L122P		NM_014373.2	NP_055188.1	Q9UJ42	GP160_HUMAN	G protein-coupled receptor 160	122						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	G-protein coupled receptor activity (GO:0004930)			breast(1)|cervix(1)|kidney(1)|large_intestine(3)|lung(2)	8	all_cancers(22;3.26e-22)|all_epithelial(15;5.71e-27)|all_lung(20;8.41e-17)|Lung NSC(18;3.49e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0655)			GATTATTGCCTGAATTTCTCT	0.289																																						ENST00000355897.5																			0				breast(1)|cervix(1)|kidney(1)|large_intestine(3)|lung(2)	8						c.(364-366)cTg>cCg		G protein-coupled receptor 160							46	49	48					3																	169802125		2203	4299	6502	SO:0001583	missense	26996					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr3:169802125T>C	AB083583	CCDS3211.1	3q26.2-q27	2012-08-21			ENSG00000173890	ENSG00000173890		"GPCR / Class A : Orphans"	23693	protein-coding gene	gene with protein product						12044878	Standard	NM_014373		Approved	GPCR150, GPCR1	uc003fgi.3	Q9UJ42	OTTHUMG00000158776	ENST00000355897.5:c.365T>C	3.37:g.169802125T>C	ENSP00000348161:p.Leu122Pro						p.L122P	NM_014373.2	NP_055188.1	Q9UJ42	GP160_HUMAN	Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0655)		4	973	+	all_cancers(22;3.26e-22)|all_epithelial(15;5.71e-27)|all_lung(20;8.41e-17)|Lung NSC(18;3.49e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		122					D3DNQ2	Missense_Mutation	SNP	ENST00000355897.5	37	c.365T>C	CCDS3211.1	.	.	.	.	.	.	.	.	.	.	T	9.713	1.157618	0.21454	.	.	ENSG00000173890	ENST00000355897;ENST00000485735;ENST00000473675	T;T;T	0.14391	2.51;2.51;2.51	5.8	4.63	0.57726	GPCR, rhodopsin-like superfamily (1);	0.812882	0.11040	N	0.606276	T	0.19846	0.0477	L	0.29908	0.895	0.09310	N	0.999995	D	0.60575	0.988	P	0.56700	0.804	T	0.13575	-1.0504	10	0.62326	D	0.03	.	8.6601	0.34088	0.0:0.0688:0.1341:0.7971	.	122	Q9UJ42	GP160_HUMAN	P	122	ENSP00000348161:L122P;ENSP00000419546:L122P;ENSP00000420751:L122P	ENSP00000348161:L122P	L	+	2	0	GPR160	171284819	0.117000	0.22190	0.011000	0.14972	0.014000	0.08584	1.828000	0.39111	1.009000	0.39289	0.528000	0.53228	CTG		0.289	GPR160-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352167.1	NM_014373		3	101	0	0	0	1	0	3	101					C	169802125	T	C	169802125	3	2	43	1	0	0	0	0	1	0	0	0	6664	1580	55	4	367	4	GPR160	3	169802125	Missense_Mutation	SNP	T	TCGA-CH-5794-01A-11D-1576-08	10821753	169802125	28220305	11	2299											
AFAP1	60312	broad.mit.edu	37	chr4	7787976	7787976	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gtgccgtcccgctggggtggGcatagccgttggaggtgccc	3	8	18	12	3	0	0	0	0	0	0	1	1	1	1	4	5	3	3	4	5	1	2			TCGA-CH-5794-01A-11D-1576-08	TCGA-CH-5794-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c91139ac-56d3-49cd-852b-9732dfb3e77e	f61e6c4e-baf6-48ca-aecd-0e3ca77aeeb0	g.chr4:7787976G>A	ENST00000360265.4	-	11	1709	c.1475C>T	c.(1474-1476)gCc>gTc	p.A492V	AFAP1_ENST00000513842.1_5'UTR|AFAP1_ENST00000420658.1_Missense_Mutation_p.A492V|AFAP1_ENST00000382543.3_Missense_Mutation_p.A492V|AFAP1_ENST00000358461.2_Missense_Mutation_p.A492V			Q8N556	AFAP1_HUMAN	actin filament associated protein 1	492						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(4)|stomach(2)	32						GCTGGGGTGGGCATAGCCGTT	0.493																																						ENST00000420658.1																			0				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(4)|stomach(2)	32						c.(1474-1476)gCc>gTc		actin filament associated protein 1							123	120	121					4																	7787976		2203	4300	6503	SO:0001583	missense	60312					actin cytoskeleton|cytoplasm|focal adhesion	actin binding	g.chr4:7787976G>A	AB209676	CCDS3397.1, CCDS47010.1	4p16	2014-02-12	2007-02-07		ENSG00000196526	ENSG00000196526		"Pleckstrin homology (PH) domain containing"	24017	protein-coding gene	gene with protein product		608252				14755689, 11641786, 11607843	Standard	NM_198595		Approved	AFAP-110, AFAP	uc011bwk.1	Q8N556	OTTHUMG00000125515	ENST00000360265.4:c.1475C>T	4.37:g.7787976G>A	ENSP00000353402:p.Ala492Val					AFAP1_ENST00000360265.4_Missense_Mutation_p.A492V|AFAP1_ENST00000513842.1_5'UTR|AFAP1_ENST00000358461.2_Missense_Mutation_p.A492V|AFAP1_ENST00000382543.3_Missense_Mutation_p.A492V	p.A492V	NM_001134647.1	NP_001128119.1	Q8N556	AFAP1_HUMAN			12	1747	-			492					A8K442|B4DMU2|E9PDT7|Q59EY5|Q9HBY1	Missense_Mutation	SNP	ENST00000360265.4	37	c.1475C>T	CCDS3397.1	.	.	.	.	.	.	.	.	.	.	G	31	5.063454	0.93898	.	.	ENSG00000196526	ENST00000360265;ENST00000420658;ENST00000358461;ENST00000382543	T;T;T;T	0.19250	2.16;2.29;2.16;2.29	5.27	5.27	0.74061	.	0.110845	0.64402	D	0.000009	T	0.31295	0.0792	M	0.65975	2.015	0.58432	D	0.999994	P;B	0.51240	0.943;0.282	P;B	0.46144	0.505;0.047	T	0.04635	-1.0937	10	0.24483	T	0.36	-36.1517	18.916	0.92506	0.0:0.0:1.0:0.0	.	492;492	E9PDT7;Q8N556	.;AFAP1_HUMAN	V	492	ENSP00000353402:A492V;ENSP00000410689:A492V;ENSP00000351245:A492V;ENSP00000371983:A492V	ENSP00000351245:A492V	A	-	2	0	AFAP1	7838876	1.000000	0.71417	0.960000	0.40013	0.940000	0.58332	8.762000	0.91711	2.462000	0.83206	0.650000	0.86243	GCC		0.493	AFAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246842.2	NM_021638		4	218	0	0	0	1	0	4	218					A	7787976	G	A	7787976	3	1	43	1	0	0	0	0	1	0	0	0	353	1203	42	3	997	3	AFAP1	4	7787976	Missense_Mutation	SNP	G	TCGA-CH-5794-01A-11D-1576-08		7787976	183366300	12	2300											
ANKRD50	57182	broad.mit.edu	37	chr4	125591185	125591185	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tccatttttggctgcaacacGcatagcagtgcgtccaaatt	10	12	8	11	2	0	0	0	0	0	0	2	0	2	0	2	1	4	4	2	1	3	4			TCGA-CH-5794-01A-11D-1576-08	TCGA-CH-5794-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c91139ac-56d3-49cd-852b-9732dfb3e77e	f61e6c4e-baf6-48ca-aecd-0e3ca77aeeb0	g.chr4:125591185G>A	ENST00000504087.1	-	4	4284	c.3247C>T	c.(3247-3249)Cgt>Tgt	p.R1083C	ANKRD50_ENST00000515641.1_Missense_Mutation_p.R904C	NM_020337.2	NP_065070.1	Q9ULJ7	ANR50_HUMAN	ankyrin repeat domain 50	1083								p.R1083C(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(14)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	55						GCTGCAACACGCATAGCAGTG	0.418																																						ENST00000504087.1																			1	Substitution - Missense(1)	p.R1083C(1)	prostate(1)	NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(14)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	55						c.(3247-3249)Cgt>Tgt		ankyrin repeat domain 50							89	87	88					4																	125591185		2203	4300	6503	SO:0001583	missense	57182							g.chr4:125591185G>A	AB033049	CCDS34060.1, CCDS54802.1	4q28.1	2013-01-10			ENSG00000151458	ENSG00000151458		"Ankyrin repeat domain containing"	29223	protein-coding gene	gene with protein product							Standard	NM_020337		Approved	KIAA1223	uc010inw.3	Q9ULJ7	OTTHUMG00000161398	ENST00000504087.1:c.3247C>T	4.37:g.125591185G>A	ENSP00000425658:p.Arg1083Cys					ANKRD50_ENST00000515641.1_Missense_Mutation_p.R904C	p.R1083C	NM_020337.2	NP_065070.1	Q9ULJ7	ANR50_HUMAN			4	4284	-			1083					A8K4V3|B4DHJ6|E9PDW0|Q6N064|Q6ZSE6	Missense_Mutation	SNP	ENST00000504087.1	37	c.3247C>T	CCDS34060.1	.	.	.	.	.	.	.	.	.	.	G	17.41	3.382500	0.61845	.	.	ENSG00000151458	ENST00000504087;ENST00000515641	T;T	0.64085	-0.08;-0.08	5.51	4.65	0.58169	Ankyrin repeat-containing domain (4);	0.049734	0.85682	D	0.000000	T	0.68016	0.2955	L	0.29908	0.895	0.58432	D	0.999998	D	0.89917	1.0	D	0.79784	0.993	T	0.69566	-0.5111	10	0.49607	T	0.09	.	13.2518	0.60055	0.0:0.0:0.7022:0.2978	.	1083	Q9ULJ7	ANR50_HUMAN	C	1083;904	ENSP00000425658:R1083C;ENSP00000425355:R904C	ENSP00000425658:R1083C	R	-	1	0	ANKRD50	125810635	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	3.450000	0.52957	1.505000	0.48720	0.561000	0.74099	CGT		0.418	ANKRD50-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364775.1	NM_020337		5	136	0	0	0	1	0	5	136					A	125591185	G	A	125591185	3	1	43	1	0	0	0	0	1	0	0	0	677	1087	38	1	1046	1	ANKRD50	4	125591185	Missense_Mutation	SNP	G	TCGA-CH-5794-01A-11D-1576-08	117803209	125591185	65563091	13	2301											
RAI14	26064	broad.mit.edu	37	chr5	34826505	34826505	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cctctcccagctctcctactCaacaagctcatccaaaaggc	11	8	4	18	0	4	0	2	0	2	0	7	0	5	0	4	1	4	2	4	1	5	1	rs373518288		TCGA-CH-5794-01A-11D-1576-08	TCGA-CH-5794-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c91139ac-56d3-49cd-852b-9732dfb3e77e	f61e6c4e-baf6-48ca-aecd-0e3ca77aeeb0	g.chr5:34826505C>G	ENST00000265109.3	+	16	3007	c.2720C>G	c.(2719-2721)tCa>tGa	p.S907*	RAI14_ENST00000512629.1_Nonsense_Mutation_p.S878*|RAI14_ENST00000428746.2_Nonsense_Mutation_p.S907*|RAI14_ENST00000506376.1_Nonsense_Mutation_p.S899*|RAI14_ENST00000515799.1_Nonsense_Mutation_p.S910*|RAI14_ENST00000503673.1_Nonsense_Mutation_p.S907*|RAI14_ENST00000397449.1_Nonsense_Mutation_p.S900*	NM_001145522.1|NM_015577.2	NP_001138994.1|NP_056392.2	Q9P0K7	RAI14_HUMAN	retinoic acid induced 14	907						actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)		p.S907*(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(19)|lung(22)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(31;0.000191)					CTCTCCTACTCAACAAGCTCA	0.512																																						ENST00000265109.3																			1	Substitution - Nonsense(1)	p.S907*(1)	prostate(1)	breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(19)|lung(22)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						c.(2719-2721)tCa>tGa		retinoic acid induced 14							77	78	78					5																	34826505		2203	4300	6503	SO:0001587	stop_gained	26064					cell cortex|cytoskeleton	protein binding	g.chr5:34826505C>G	AB037755	CCDS34142.1, CCDS54837.1, CCDS54838.1, CCDS54839.1	5p13.3-p13.2	2013-01-10			ENSG00000039560	ENSG00000039560		"Ankyrin repeat domain containing"	14873	protein-coding gene	gene with protein product	"novel retinal pigment epithelial"	606586				11042181	Standard	NM_015577		Approved	NORPEG, KIAA1334, RAI13, DKFZp564G013	uc011coj.2	Q9P0K7	OTTHUMG00000162019	ENST00000265109.3:c.2720C>G	5.37:g.34826505C>G	ENSP00000265109:p.Ser907*					RAI14_ENST00000515799.1_Nonsense_Mutation_p.S910*|RAI14_ENST00000506376.1_Nonsense_Mutation_p.S899*|RAI14_ENST00000397449.1_Nonsense_Mutation_p.S900*|RAI14_ENST00000503673.1_Nonsense_Mutation_p.S907*|RAI14_ENST00000428746.2_Nonsense_Mutation_p.S907*|RAI14_ENST00000512629.1_Nonsense_Mutation_p.S878*	p.S907*	NM_001145522.1|NM_015577.2	NP_001138994.1|NP_056392.2	Q9P0K7	RAI14_HUMAN			16	3007	+	all_lung(31;0.000191)		907					E9PED3|Q6V1W9|Q7Z5I4|Q7Z733|Q9P2L2|Q9Y3T5	Nonsense_Mutation	SNP	ENST00000265109.3	37	c.2720C>G	CCDS34142.1	.	.	.	.	.	.	.	.	.	.	C	42	9.502472	0.99189	.	.	ENSG00000039560	ENST00000265109;ENST00000512629;ENST00000428746;ENST00000503673;ENST00000515799;ENST00000506376;ENST00000397449	.	.	.	4.98	4.98	0.66077	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-4.2568	18.6096	0.91279	0.0:1.0:0.0:0.0	.	.	.	.	X	907;878;907;907;910;899;900	.	ENSP00000265109:S907X	S	+	2	0	RAI14	34862262	1.000000	0.71417	0.968000	0.41197	0.995000	0.86356	4.571000	0.60879	2.483000	0.83821	0.561000	0.74099	TCA		0.512	RAI14-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366786.1	NM_015577		28	67	0	0	0	1	0	28	67					G	34826505	C	G	34826505	4	3	43	1	0	0	0	0	0	1	0	0	13008	838	29	5	2843	5	RAI14	5	34826505	Nonsense_Mutation	SNP	C	TCGA-CH-5794-01A-11D-1576-08		34826505	146088755	14	2302											
HCN1	348980	broad.mit.edu	37	chr5	45262494	45262494	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gactgctgtacctgctgctgCggctgctgttgcatgagtga	5	12	14	10	1	0	2	0	2	0	0	0	3	0	2	1	1	7	8	1	1	1	2			TCGA-CH-5794-01A-11D-1576-08	TCGA-CH-5794-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c91139ac-56d3-49cd-852b-9732dfb3e77e	f61e6c4e-baf6-48ca-aecd-0e3ca77aeeb0	g.chr5:45262494C>T	ENST00000303230.4	-	8	2259	c.2202G>A	c.(2200-2202)ccG>ccA	p.P734P		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	734	Gln-rich.				apical protein localization (GO:0045176)|cellular response to cAMP (GO:0071320)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|retinal cone cell development (GO:0046549)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|intracellular cAMP activated cation channel activity (GO:0005222)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated sodium channel activity (GO:0005248)	p.P734P(1)		NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						cctgctgctgcggctgctgtt	0.652																																						ENST00000303230.4																			1	Substitution - coding silent(1)	p.P734P(1)	prostate(1)	NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						c.(2200-2202)ccG>ccA		hyperpolarization activated cyclic nucleotide-gated potassium channel 1							26	28	28					5																	45262494		2203	4298	6501	SO:0001819	synonymous_variant	348980					integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity	g.chr5:45262494C>T	AF064876	CCDS3952.1	5p12	2011-07-05			ENSG00000164588	ENSG00000164588		"Voltage-gated ion channels / Cyclic nucleotide-regulated channels"	4845	protein-coding gene	gene with protein product		602780		BCNG1		9405696, 9630217, 16382102	Standard	NM_021072		Approved	BCNG-1, HAC-2	uc003jok.3	O60741	OTTHUMG00000131155	ENST00000303230.4:c.2202G>A	5.37:g.45262494C>T							p.P734P	NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN			8	2259	-			734			Gln-rich.			Silent	SNP	ENST00000303230.4	37	c.2202G>A	CCDS3952.1																																																																																				0.652	HCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253847.1	NM_021072		6	13	0	0	0	1	0	6	13					T	45262494	C	T	45262494	2	4	43	1	0	0	0	0	0	0	0	1	6996	755	27	1		1	HCN1	5	45262494	Silent	SNP	C	TCGA-CH-5794-01A-11D-1576-08	10435989	45262494	135652766	15	2303											
SLCO6A1	133482	broad.mit.edu	37	chr5	101813486	101813486	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgcacagtctgcccaaggatGaagaaagacaggtattttga	14	9	11	7	0	1	4	0	2	1	2	1	5	1	5	1	2	2	2	1	2	4	3	rs145273103		TCGA-CH-5794-01A-11D-1576-08	TCGA-CH-5794-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c91139ac-56d3-49cd-852b-9732dfb3e77e	f61e6c4e-baf6-48ca-aecd-0e3ca77aeeb0	g.chr5:101813486G>A	ENST00000506729.1	-	3	867	c.696C>T	c.(694-696)ttC>ttT	p.F232F	SLCO6A1_ENST00000389019.3_Intron|SLCO6A1_ENST00000514551.1_Intron|SLCO6A1_ENST00000379810.1_Intron|SLCO6A1_ENST00000513675.1_Intron|SLCO6A1_ENST00000379807.3_Silent_p.F232F			Q86UG4	SO6A1_HUMAN	solute carrier organic anion transporter family, member 6A1	232						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)	p.F232F(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(17)|lung(22)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	60		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)		GCCCAAGGATGAAGAAAGACA	0.383																																						ENST00000506729.1																			1	Substitution - coding silent(1)	p.F232F(1)	prostate(1)	breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(17)|lung(22)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						c.(694-696)ttC>ttT		solute carrier organic anion transporter family, member 6A1		G		1,4405	2.1+/-5.4	0,1,2202	172	166	168		696	2.6	0	5	dbSNP_134	168	0,8600		0,0,4300	no	coding-synonymous	SLCO6A1	NM_173488.3		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		232/720	101813486	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	133482					integral to membrane|plasma membrane	transporter activity	g.chr5:101813486G>A	AF505657	CCDS34206.1, CCDS75282.1	5q21.2	2013-05-22			ENSG00000205359	ENSG00000205359		"Solute carriers"	23613	protein-coding gene	gene with protein product	"cancer/testis antigen 48"	613365					Standard	XM_005271874		Approved	OATP6A1, OATPY, MGC26949, CT48	uc003knp.3	Q86UG4	OTTHUMG00000162759	ENST00000506729.1:c.696C>T	5.37:g.101813486G>A						SLCO6A1_ENST00000513675.1_Intron|SLCO6A1_ENST00000379807.3_Silent_p.F232F|SLCO6A1_ENST00000389019.3_Intron|SLCO6A1_ENST00000514551.1_Intron|SLCO6A1_ENST00000379810.1_Intron	p.F232F			Q86UG4	SO6A1_HUMAN		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)	3	867	-		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)	232					A6NHC1|Q6ZMY5|Q86UV2|Q8IYU5	Silent	SNP	ENST00000506729.1	37	c.696C>T	CCDS34206.1																																																																																				0.383	SLCO6A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370335.1	NM_173488		77	206	0	0	0	1	0	77	206					A	101813486	G	A	101813486	2	1	43	1	0	0	0	0	0	0	0	1	14732	1281	45	3		3	SLCO6A1	5	101813486	Silent	SNP	G	TCGA-CH-5794-01A-11D-1576-08	56550992	101813486	79101774	16	2304											
ADAMTS19	171019	broad.mit.edu	37	chr5	128957923	128957923	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	taactgcttgctacaaacaaAtccgcagagtgtcaattctg	13	11	7	10	1	2	1	1	0	1	1	3	1	3	1	1	0	5	3	1	0	5	4			TCGA-CH-5794-01A-11D-1576-08	TCGA-CH-5794-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c91139ac-56d3-49cd-852b-9732dfb3e77e	f61e6c4e-baf6-48ca-aecd-0e3ca77aeeb0	g.chr5:128957923A>C	ENST00000274487.4	+	10	1779	c.1634A>C	c.(1633-1635)aAt>aCt	p.N545T	CTC-575N7.1_ENST00000503616.1_RNA	NM_133638.3	NP_598377.3	Q8TE59	ATS19_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 19	545	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.					proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.N545T(2)		NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)		CTACAAACAAATCCGCAGAGT	0.428																																						ENST00000274487.4																			2	Substitution - Missense(2)	p.N545T(2)	prostate(2)	NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91						c.(1633-1635)aAt>aCt		ADAM metallopeptidase with thrombospondin type 1 motif, 19							143	126	132					5																	128957923		2203	4300	6503	SO:0001583	missense	171019				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:128957923A>C	AJ311904	CCDS4146.1	5q23.3	2009-04-27	2005-08-19		ENSG00000145808	ENSG00000145808		"ADAM metallopeptidases with thrombospondin type 1 motif"	17111	protein-coding gene	gene with protein product		607513	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 19"			11867212	Standard	NM_133638		Approved		uc003kvb.1	Q8TE59	OTTHUMG00000128990	ENST00000274487.4:c.1634A>C	5.37:g.128957923A>C	ENSP00000274487:p.Asn545Thr					CTC-575N7.1_ENST00000503616.1_RNA	p.N545T	NM_133638.3	NP_598377.3	Q8TE59	ATS19_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)	10	1779	+		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	545			Peptidase M12B.			Missense_Mutation	SNP	ENST00000274487.4	37	c.1634A>C	CCDS4146.1	.	.	.	.	.	.	.	.	.	.	A	18.85	3.710381	0.68730	.	.	ENSG00000145808	ENST00000274487	T	0.65549	-0.16	4.42	4.42	0.53409	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (1);	0.137175	0.47093	D	0.000246	T	0.49830	0.1580	N	0.08118	0	0.46725	D	0.999174	P	0.45634	0.863	P	0.49387	0.609	T	0.49862	-0.8894	9	.	.	.	.	14.7298	0.69372	1.0:0.0:0.0:0.0	.	545	Q8TE59	ATS19_HUMAN	T	545	ENSP00000274487:N545T	.	N	+	2	0	ADAMTS19	128985822	1.000000	0.71417	1.000000	0.80357	0.911000	0.54048	4.988000	0.63863	2.213000	0.71641	0.477000	0.44152	AAT		0.428	ADAMTS19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250979.2	NM_133638		28	70	0	0	0	1	0	28	70					C	128957923	A	C	128957923	3	2	43	1	0	0	0	0	1	0	0	0	264	101	4	5	1672	5	ADAMTS19	5	128957923	Missense_Mutation	SNP	A	TCGA-CH-5794-01A-11D-1576-08	27144437	128957923	51957337	17	2305											
GMDS	2762	broad.mit.edu	37	chr6	1624710	1624710	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccctaagagatactcacatcGaaagcgacccggggcttcca	12	6	9	14	3	1	1	1	0	0	1	3	4	2	1	3	2	2	1	3	2	3	3			TCGA-CH-5794-01A-11D-1576-08	TCGA-CH-5794-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c91139ac-56d3-49cd-852b-9732dfb3e77e	f61e6c4e-baf6-48ca-aecd-0e3ca77aeeb0	g.chr6:1624710G>A	ENST00000380815.4	-	10	1322	c.1053C>T	c.(1051-1053)ttC>ttT	p.F351F	GMDS_ENST00000467288.2_5'UTR|GMDS_ENST00000530927.1_Silent_p.F321F	NM_001500.3	NP_001491.1	O60547	GMDS_HUMAN	GDP-mannose 4,6-dehydratase	351					'de novo' GDP-L-fucose biosynthetic process (GO:0042351)|GDP-mannose metabolic process (GO:0019673)|Notch signaling pathway (GO:0007219)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	GDP-mannose 4,6-dehydratase activity (GO:0008446)|NADP+ binding (GO:0070401)	p.F351F(1)	GMDS/PDE8B(2)	breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(2)|lung(8)|prostate(1)	21	Ovarian(93;0.0733)	all_cancers(2;7.64e-19)|all_epithelial(2;3.05e-16)|Colorectal(2;0.00414)|all_hematologic(90;0.00997)|all_lung(73;0.0141)|Lung NSC(90;0.0802)		Epithelial(2;7.61e-06)|all cancers(2;0.000111)|STAD - Stomach adenocarcinoma(2;0.000231)|Colorectal(2;0.00445)|COAD - Colon adenocarcinoma(2;0.0125)|OV - Ovarian serous cystadenocarcinoma(45;0.0563)		TACTCACATCGAAAGCGACCC	0.667																																						ENST00000380815.4																		GMDS/PDE8B(2)	1	Substitution - coding silent(1)	p.F351F(1)	prostate(1)	breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(2)|lung(8)|prostate(1)	21						c.(1051-1053)ttC>ttT		GDP-mannose 4,6-dehydratase							35	37	36					6																	1624710		2203	4300	6503	SO:0001819	synonymous_variant	2762				'de novo' GDP-L-fucose biosynthetic process|GDP-mannose metabolic process|leukocyte cell-cell adhesion		coenzyme binding|GDP-mannose 4,6-dehydratase activity	g.chr6:1624710G>A	AF042377	CCDS4474.1, CCDS58994.1	6p25	2011-09-14			ENSG00000112699	ENSG00000112699	4.2.1.47	"Short chain dehydrogenase/reductase superfamily / Extended SDR fold"	4369	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 3E, member 1"	602884				9525924, 19027726	Standard	NM_001500		Approved	GMD, SDR3E1	uc003mtq.3	O60547	OTTHUMG00000016143	ENST00000380815.4:c.1053C>T	6.37:g.1624710G>A						GMDS_ENST00000530927.1_Silent_p.F321F|GMDS_ENST00000467288.2_5'UTR	p.F351F	NM_001500.3	NP_001491.1	O60547	GMDS_HUMAN		Epithelial(2;7.61e-06)|all cancers(2;0.000111)|STAD - Stomach adenocarcinoma(2;0.000231)|Colorectal(2;0.00445)|COAD - Colon adenocarcinoma(2;0.0125)|OV - Ovarian serous cystadenocarcinoma(45;0.0563)	10	1322	-	Ovarian(93;0.0733)	all_cancers(2;7.64e-19)|all_epithelial(2;3.05e-16)|Colorectal(2;0.00414)|all_hematologic(90;0.00997)|all_lung(73;0.0141)|Lung NSC(90;0.0802)	351					E9PI88|O75357|Q5T954|Q6FH09|Q9UGZ3|Q9UJK9	Silent	SNP	ENST00000380815.4	37	c.1053C>T	CCDS4474.1																																																																																				0.667	GMDS-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000043380.3			3	24	0	0	0	1	0	3	24					A	1624710	G	A	1624710	2	1	43	1	0	0	0	0	0	0	0	1	6486	1049	37	2		2	GMDS	6	1624710	Silent	SNP	G	TCGA-CH-5794-01A-11D-1576-08		1624710	169490357	18	2306											
HIST1H4K	8362	broad.mit.edu	37	chr6	27799301	27799301	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcccgcctttgccgcggccaGacatgacgagcaagaggagt	9	6	13	13	4	0	3	0	1	0	2	1	5	1	4	4	2	2	1	4	2	1	1			TCGA-CH-5794-01A-11D-1576-08	TCGA-CH-5794-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c91139ac-56d3-49cd-852b-9732dfb3e77e	f61e6c4e-baf6-48ca-aecd-0e3ca77aeeb0	g.chr6:27799301G>C	ENST00000357549.2	-	1	4	c.5C>G	c.(4-6)tCt>tGt	p.S2C		NM_003541.2	NP_003532.1	P62805	H4_HUMAN	histone cluster 1, H4k	2					CENP-A containing nucleosome assembly (GO:0034080)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|histone H4-K20 demethylation (GO:0035574)|mitotic cell cycle (GO:0000278)|negative regulation of megakaryocyte differentiation (GO:0045653)|nucleosome assembly (GO:0006334)|telomere maintenance (GO:0000723)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|histone demethylase activity (H4-K20 specific) (GO:0035575)|poly(A) RNA binding (GO:0044822)	p.S2C(1)		breast(1)|endometrium(1)|lung(3)|ovary(1)|prostate(1)	7						GCCGCGGCCAGACATGACGAG	0.592																																						ENST00000357549.2																			1	Substitution - Missense(1)	p.S2C(1)	prostate(1)	breast(1)|endometrium(1)|lung(3)|ovary(1)|prostate(1)	7						c.(4-6)tCt>tGt		histone cluster 1, H4k							33	32	32					6																	27799301		2200	4291	6491	SO:0001583	missense	8362				CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding	g.chr6:27799301G>C	X60483	CCDS4631.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000197914	ENSG00000273542		"Histones / Replication-dependent"	4784	protein-coding gene	gene with protein product		602825	"H4 histone family, member D", "histone 1, H4k"	H4FD		9439656, 12408966	Standard	NM_003541		Approved	H4/d, H4F2iii, dJ160A22.1	uc003njr.3	P62805	OTTHUMG00000014488	ENST00000357549.2:c.5C>G	6.37:g.27799301G>C	ENSP00000350159:p.Ser2Cys						p.S2C	NM_003541.2	NP_003532.1	P62805	H4_HUMAN			1	4	-			2					A2VCL0|P02304|P02305|Q6DRA9|Q6FGB8|Q6NWP7	Missense_Mutation	SNP	ENST00000357549.2	37	c.5C>G	CCDS4631.1	.	.	.	.	.	.	.	.	.	.	.	16.67	3.188908	0.57909	.	.	ENSG00000197914	ENST00000357549	.	.	.	4.05	4.05	0.47172	.	0.255102	0.23957	U	0.042893	T	0.47097	0.1427	.	.	.	0.29602	N	0.847592	.	.	.	.	.	.	T	0.47548	-0.9109	6	0.87932	D	0	.	15.6683	0.77252	0.0:0.0:1.0:0.0	.	.	.	.	C	2	.	ENSP00000350159:S2C	S	-	2	0	HIST1H4K	27907280	1.000000	0.71417	1.000000	0.80357	0.864000	0.49448	6.575000	0.74018	1.981000	0.57761	0.644000	0.83932	TCT		0.592	HIST1H4K-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040156.1	NM_003541		16	68	0	0	0	1	0	16	68					C	27799301	G	C	27799301	3	2	43	1	0	0	0	0	1	0	0	0	7175	942	33	5	310	5	HIST1H4K	6	27799301	Missense_Mutation	SNP	G	TCGA-CH-5794-01A-11D-1576-08	26174591	27799301	143315766	19	2307											
PTK7	5754	broad.mit.edu	37	chr6	43106701	43106701	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tacagttgtctggtacagaaAccagatgctcatctcagagg	12	10	10	9	0	3	3	2	0	2	3	4	3	3	3	1	2	4	3	1	2	3	3			TCGA-CH-5794-01A-11D-1576-08	TCGA-CH-5794-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c91139ac-56d3-49cd-852b-9732dfb3e77e	f61e6c4e-baf6-48ca-aecd-0e3ca77aeeb0	g.chr6:43106701A>G	ENST00000230419.4	+	8	1564	c.1343A>G	c.(1342-1344)aAc>aGc	p.N448S	PTK7_ENST00000349241.2_Intron|PTK7_ENST00000352931.2_Missense_Mutation_p.N448S|PTK7_ENST00000481273.1_Missense_Mutation_p.N456S|PTK7_ENST00000345201.2_Missense_Mutation_p.N448S	NM_002821.4	NP_002812.2	Q13308	PTK7_HUMAN	protein tyrosine kinase 7	448	Ig-like C2-type 5.				actin cytoskeleton reorganization (GO:0031532)|axis elongation (GO:0003401)|canonical Wnt signaling pathway (GO:0060070)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cellular response to retinoic acid (GO:0071300)|cochlea morphogenesis (GO:0090103)|convergent extension (GO:0060026)|establishment of epithelial cell apical/basal polarity (GO:0045198)|establishment of planar polarity (GO:0001736)|lung-associated mesenchyme development (GO:0060484)|neural tube closure (GO:0001843)|peptidyl-tyrosine phosphorylation (GO:0018108)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of neuron projection development (GO:0010976)|signal transduction (GO:0007165)|wound healing (GO:0042060)	cell-cell junction (GO:0005911)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(12)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00784)|OV - Ovarian serous cystadenocarcinoma(102;0.0423)			TGGTACAGAAACCAGATGCTC	0.557																																						ENST00000230419.4																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(12)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						c.(1342-1344)aAc>aGc		protein tyrosine kinase 7							79	74	76					6																	43106701		2203	4300	6503	SO:0001583	missense	0				actin cytoskeleton reorganization|canonical Wnt receptor signaling pathway|cell adhesion|cell migration	cell-cell junction|integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr6:43106701A>G	AF447176	CCDS4884.1, CCDS4885.1, CCDS4886.1, CCDS4887.1, CCDS59021.1	6p21.1-p12.2	2013-02-18	2013-02-18		ENSG00000112655	ENSG00000112655	2.7.10.1	"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	9618	protein-coding gene	gene with protein product		601890	"PTK7 protein tyrosine kinase 7"			7478540	Standard	NM_002821		Approved	CCK4	uc011dve.2	Q13308	OTTHUMG00000014721	ENST00000230419.4:c.1343A>G	6.37:g.43106701A>G	ENSP00000230419:p.Asn448Ser					PTK7_ENST00000349241.2_Intron|PTK7_ENST00000345201.2_Missense_Mutation_p.N448S|PTK7_ENST00000481273.1_Missense_Mutation_p.N456S|PTK7_ENST00000352931.2_Missense_Mutation_p.N448S	p.N448S	NM_002821.4	NP_002812.2	Q13308	PTK7_HUMAN	Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00784)|OV - Ovarian serous cystadenocarcinoma(102;0.0423)		8	1564	+			448			Ig-like C2-type 5.		A8K974|B7Z477|E9PFZ5|Q13417|Q5T650|Q6IQ54|Q8NFA5|Q8NFA6|Q8NFA7|Q8NFA8	Missense_Mutation	SNP	ENST00000230419.4	37	c.1343A>G	CCDS4884.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	17.97|17.97	3.517316|3.517316	0.64634|0.64634	.|.	.|.	ENSG00000112655|ENSG00000112655	ENST00000230419;ENST00000325774;ENST00000352931;ENST00000345201;ENST00000481273;ENST00000481946|ENST00000489707	T;T;T;T;T|.	0.47177|.	0.85;0.85;0.85;0.85;0.85|.	5.31|5.31	5.31|5.31	0.75309|0.75309	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.67988|0.67988	0.2952|0.2952	M|M	0.75777|0.75777	2.31|2.31	0.58432|0.58432	D|D	0.999997|0.999997	B;P;B;B;B|.	0.52316|.	0.242;0.952;0.36;0.365;0.277|.	B;P;B;B;B|.	0.50352|.	0.159;0.638;0.102;0.09;0.145|.	T|T	0.70135|0.70135	-0.4955|-0.4955	10|5	0.59425|.	D|.	0.04|.	.|.	15.2593|15.2593	0.73610|0.73610	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	456;124;448;448;448|.	E9PFZ5;F8W9X8;Q13308-2;Q13308-4;Q13308|.	.;.;.;.;PTK7_HUMAN|.	S|A	448;124;448;448;456;227|93	ENSP00000230419:N448S;ENSP00000326029:N448S;ENSP00000325992:N448S;ENSP00000418754:N456S;ENSP00000420165:N227S|.	ENSP00000230418:N448S|.	N|T	+|+	2|1	0|0	PTK7|PTK7	43214679|43214679	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.914000|0.914000	0.54420|0.54420	6.447000|6.447000	0.73465|0.73465	2.014000|2.014000	0.59158|0.59158	0.402000|0.402000	0.26972|0.26972	AAC|ACC		0.557	PTK7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040580.2			3	110	0	0	0	1	0	3	110					G	43106701	A	G	43106701	3	3	43	1	0	0	0	0	1	0	0	0	12765	43	2	4	1373	4	PTK7	6	43106701	Missense_Mutation	SNP	A	TCGA-CH-5794-01A-11D-1576-08	15307400	43106701	128008366	20	2308											
HCRTR2	3062	broad.mit.edu	37	chr6	55147206	55147206	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agttgtgctcactagcataaGcacactcccagcagccaatg	12	8	8	13	0	1	0	1	0	0	0	2	0	2	0	2	0	5	5	2	0	3	3			TCGA-CH-5794-01A-11D-1576-08	TCGA-CH-5794-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c91139ac-56d3-49cd-852b-9732dfb3e77e	f61e6c4e-baf6-48ca-aecd-0e3ca77aeeb0	g.chr6:55147206G>A	ENST00000370862.3	+	7	1625	c.1289G>A	c.(1288-1290)aGc>aAc	p.S430N		NM_001526.3	NP_001517.2	O43614	OX2R_HUMAN	hypocretin (orexin) receptor 2	430					circadian sleep/wake cycle process (GO:0022410)|feeding behavior (GO:0007631)|neuropeptide signaling pathway (GO:0007218)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neuropeptide receptor activity (GO:0008188)|orexin receptor activity (GO:0016499)	p.S430N(1)		breast(3)|endometrium(2)|kidney(1)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	46	Lung NSC(77;0.107)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			ACTAGCATAAGCACACTCCCA	0.408																																						ENST00000370862.3																			1	Substitution - Missense(1)	p.S430N(1)	prostate(1)	breast(3)|endometrium(2)|kidney(1)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	46						c.(1288-1290)aGc>aAc		hypocretin (orexin) receptor 2							55	47	50					6																	55147206		2203	4300	6503	SO:0001583	missense	3062				feeding behavior	integral to plasma membrane	neuropeptide receptor activity	g.chr6:55147206G>A	AF041245	CCDS4956.1	6p12.1	2012-09-20			ENSG00000137252	ENSG00000137252		"GPCR / Class A : Hypocretin (orexin) receptors"	4849	protein-coding gene	gene with protein product		602393				9491897	Standard	NM_001526		Approved	OX2R	uc003pcl.3	O43614	OTTHUMG00000016150	ENST00000370862.3:c.1289G>A	6.37:g.55147206G>A	ENSP00000359899:p.Ser430Asn						p.S430N	NM_001526.3	NP_001517.2	O43614	OX2R_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.23)		7	1625	+	Lung NSC(77;0.107)|Renal(3;0.122)		430					Q5VTM0	Missense_Mutation	SNP	ENST00000370862.3	37	c.1289G>A	CCDS4956.1	.	.	.	.	.	.	.	.	.	.	G	11.33	1.608216	0.28623	.	.	ENSG00000137252	ENST00000370862	T	0.61392	0.11	5.36	4.48	0.54585	.	0.136815	0.52532	D	0.000069	T	0.12050	0.0293	N	0.08118	0	0.26363	N	0.977016	B	0.06786	0.001	B	0.08055	0.003	T	0.18650	-1.0330	10	0.15066	T	0.55	.	4.7651	0.13128	0.1891:0.1955:0.6154:0.0	.	430	O43614	OX2R_HUMAN	N	430	ENSP00000359899:S430N	ENSP00000359899:S430N	S	+	2	0	HCRTR2	55255165	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	2.111000	0.41883	1.239000	0.43787	0.650000	0.86243	AGC		0.408	HCRTR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043392.1			11	25	0	0	0	1	0	11	25					A	55147206	G	A	55147206	3	1	43	1	0	0	0	0	1	0	0	0	7002	971	34	3	1315	3	HCRTR2	6	55147206	Missense_Mutation	SNP	G	TCGA-CH-5794-01A-11D-1576-08	12040505	55147206	115967861	21	2309											
COPS6	10980	broad.mit.edu	37	chr7	99686977	99686977	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtcgctctccatccccttgtCattctcaacatctcagacca	8	12	4	17	1	4	1	3	0	3	1	9	1	5	1	4	0	1	1	4	0	1	2			TCGA-CH-5794-01A-11D-1576-08	TCGA-CH-5794-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c91139ac-56d3-49cd-852b-9732dfb3e77e	f61e6c4e-baf6-48ca-aecd-0e3ca77aeeb0	g.chr7:99686977C>G	ENST00000303904.3	+	2	178	c.141C>G	c.(139-141)gtC>gtG	p.V47V	COPS6_ENST00000418625.1_Silent_p.V46V	NM_006833.4	NP_006824.2	Q7L5N1	CSN6_HUMAN	COP9 signalosome subunit 6	47	MPN.				cullin deneddylation (GO:0010388)|viral process (GO:0016032)	COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)		p.V47V(1)		breast(1)|endometrium(3)|large_intestine(4)|lung(2)|prostate(1)|stomach(1)	12	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		STAD - Stomach adenocarcinoma(171;0.129)			ATCCCCTTGTCATTCTCAACA	0.592																																						ENST00000303904.3																			1	Substitution - coding silent(1)	p.V47V(1)	prostate(1)	breast(1)|endometrium(3)|large_intestine(4)|lung(2)|prostate(1)|stomach(1)	12						c.(139-141)gtC>gtG		COP9 signalosome subunit 6							150	139	143					7																	99686977		2203	4300	6503	SO:0001819	synonymous_variant	10980				cullin deneddylation|interspecies interaction between organisms	cytoplasm|signalosome	protein binding	g.chr7:99686977C>G	BC002520	CCDS5682.1	7q22.1	2013-03-14	2013-03-14		ENSG00000168090	ENSG00000168090			21749	protein-coding gene	gene with protein product	"COP9 subunit 6 (MOV34 homolog, 34 kD)"	614729	"COP9 constitutive photomorphogenic homolog subunit 6 (Arabidopsis)"			12477932	Standard	NM_006833		Approved	MOV34-34KD, CSN6	uc003usu.3	Q7L5N1	OTTHUMG00000154632	ENST00000303904.3:c.141C>G	7.37:g.99686977C>G						COPS6_ENST00000418625.1_Silent_p.V46V	p.V47V	NM_006833.4	NP_006824.2	Q7L5N1	CSN6_HUMAN	STAD - Stomach adenocarcinoma(171;0.129)		2	178	+	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		47			MPN.		A4D2A3|O15387	Silent	SNP	ENST00000303904.3	37	c.141C>G	CCDS5682.1																																																																																				0.592	COPS6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000336412.3	NM_006833		75	191	0	0	0	1	0	75	191					G	99686977	C	G	99686977	2	3	43	1	0	0	0	0	0	0	0	1	3737	813	29	5		5	COPS6	7	99686977	Silent	SNP	C	TCGA-CH-5794-01A-11D-1576-08		99686977	59451686	22	2310											
LRCH4	4034	broad.mit.edu	37	chr7	100172836	100172836	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggggccagaggggcggtaggGccttgccccccacccgcttc	4	5	16	16	2	0	1	0	0	0	1	1	1	0	1	6	6	1	2	6	6	1	3			TCGA-CH-5794-01A-11D-1576-08	TCGA-CH-5794-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c91139ac-56d3-49cd-852b-9732dfb3e77e	f61e6c4e-baf6-48ca-aecd-0e3ca77aeeb0	g.chr7:100172836G>A	ENST00000310300.6	-	18	1998	c.1946C>T	c.(1945-1947)gCc>gTc	p.A649V	SAP25_ENST00000538735.1_5'Flank|LRCH4_ENST00000497245.1_Missense_Mutation_p.A197V	NM_002319.3	NP_002310.2	O75427	LRCH4_HUMAN	leucine-rich repeats and calponin homology (CH) domain containing 4	649	CH. {ECO:0000255|PROSITE- ProRule:PRU00044}.				nervous system development (GO:0007399)	PML body (GO:0016605)		p.A649V(1)		NS(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	23	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GGGCGGTAGGGCCTTGCCCCC	0.697																																						ENST00000310300.6																			1	Substitution - Missense(1)	p.A649V(1)	prostate(1)	NS(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	23						c.(1945-1947)gCc>gTc		leucine-rich repeats and calponin homology (CH) domain containing 4							35	31	32					7																	100172836		2198	4292	6490	SO:0001583	missense	4034				nervous system development	PML body	protein binding	g.chr7:100172836G>A	AF053356	CCDS34706.1	7q22	2008-05-20	2004-05-27	2004-05-28	ENSG00000077454	ENSG00000077454			6691	protein-coding gene	gene with protein product				LRN, LRRN1		9799793	Standard	XM_005250346		Approved		uc003uvj.3	O75427	OTTHUMG00000159544	ENST00000310300.6:c.1946C>T	7.37:g.100172836G>A	ENSP00000309689:p.Ala649Val					LRCH4_ENST00000497245.1_Missense_Mutation_p.A197V	p.A649V	NM_002319.3	NP_002310.2	O75427	LRCH4_HUMAN			18	1998	-	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		649			CH.		A4D2D5|Q8WV85|Q96ID0	Missense_Mutation	SNP	ENST00000310300.6	37	c.1946C>T	CCDS34706.1	.	.	.	.	.	.	.	.	.	.	G	16.02	3.005612	0.54254	.	.	ENSG00000077454	ENST00000310300;ENST00000422462;ENST00000497245	T;T	0.46451	1.45;0.87	4.76	3.88	0.44766	.	0.540943	0.18127	N	0.150852	T	0.40171	0.1106	M	0.66939	2.045	0.25192	N	0.990123	B	0.06786	0.001	B	0.04013	0.001	T	0.35748	-0.9776	10	0.51188	T	0.08	-2.2102	9.0038	0.36100	0.1033:0.0:0.8967:0.0	.	649	O75427	LRCH4_HUMAN	V	649;108;197	ENSP00000309689:A649V;ENSP00000419870:A197V	ENSP00000309689:A649V	A	-	2	0	LRCH4	100010772	0.421000	0.25465	0.873000	0.34254	0.304000	0.27724	1.548000	0.36201	1.027000	0.39758	0.555000	0.69702	GCC		0.697	LRCH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356110.1	NM_002319		5	13	0	0	0	1	0	5	13					A	100172836	G	A	100172836	3	1	43	1	0	0	0	0	1	0	0	0	8935	1203	42	3	109	3	LRCH4	7	100172836	Missense_Mutation	SNP	G	TCGA-CH-5794-01A-11D-1576-08	485859	100172836	58965827	23	2311											
NKX3-1	4824	broad.mit.edu	37	chr8	23538909	23538909	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gctgctttcgcttagtcttaTagcgtctgttctggaaccat	6	16	9	10	2	3	0	0	0	3	0	4	1	3	1	1	1	3	4	1	1	4	5	rs373263457		TCGA-CH-5794-01A-11D-1576-08	TCGA-CH-5794-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c91139ac-56d3-49cd-852b-9732dfb3e77e	f61e6c4e-baf6-48ca-aecd-0e3ca77aeeb0	g.chr8:23538909T>C	ENST00000380871.4	-	2	567	c.530A>G	c.(529-531)tAt>tGt	p.Y177C	NKX3-1_ENST00000523261.1_Missense_Mutation_p.Y102C	NM_006167.3	NP_006158.2	Q99801	NKX31_HUMAN	NK3 homeobox 1	177					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|androgen receptor signaling pathway (GO:0030521)|branching involved in prostate gland morphogenesis (GO:0060442)|branching morphogenesis of an epithelial tube (GO:0048754)|cellular response to drug (GO:0035690)|cellular response to hypoxia (GO:0071456)|cellular response to interleukin-1 (GO:0071347)|cellular response to steroid hormone stimulus (GO:0071383)|cellular response to tumor necrosis factor (GO:0071356)|dorsal aorta development (GO:0035907)|epithelial cell proliferation involved in salivary gland morphogenesis (GO:0060664)|heart development (GO:0007507)|male gonad development (GO:0008584)|metanephros development (GO:0001656)|mitotic cell cycle arrest (GO:0071850)|multicellular organismal development (GO:0007275)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|negative regulation of estrogen receptor binding (GO:0071899)|negative regulation of gene expression (GO:0010629)|negative regulation of insulin-like growth factor receptor signaling pathway (GO:0043569)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of transcription, DNA-templated (GO:0045892)|pharyngeal system development (GO:0060037)|positive regulation of androgen secretion (GO:2000836)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell death (GO:0010942)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of gene expression (GO:0010628)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of response to DNA damage stimulus (GO:2001022)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein kinase B signaling (GO:0043491)|regulation of transcription, DNA-templated (GO:0006355)|response to testosterone (GO:0033574)|salivary gland development (GO:0007431)|somitogenesis (GO:0001756)|steroid hormone mediated signaling pathway (GO:0043401)	intracellular (GO:0005622)|nucleus (GO:0005634)	androgen receptor activity (GO:0004882)|core promoter binding (GO:0001047)|estrogen receptor activity (GO:0030284)|estrogen receptor binding (GO:0030331)|histone deacetylase binding (GO:0042826)|protein kinase activator activity (GO:0030295)|protein self-association (GO:0043621)|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity (GO:0000983)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|transcription regulatory region sequence-specific DNA binding (GO:0000976)	p.Y177C(2)		large_intestine(3)|lung(4)|prostate(5)|skin(2)	14		Prostate(55;0.114)		Colorectal(74;0.0146)|COAD - Colon adenocarcinoma(73;0.061)|BRCA - Breast invasive adenocarcinoma(99;0.0708)		CTTAGTCTTATAGCGTCTGTT	0.582																																						ENST00000380871.4																			2	Substitution - Missense(2)	p.Y177C(2)	prostate(2)	large_intestine(3)|lung(4)|prostate(5)|skin(2)	14						c.(529-531)tAt>tGt		NK3 homeobox 1		T	CYS/TYR	0,4406		0,0,2203	166	163	164		530	5.7	1	8		164	1,8599	1.2+/-3.3	0,1,4299	no	missense	NKX3-1	NM_006167.3	194	0,1,6502	CC,CT,TT		0.0116,0.0,0.0077	probably-damaging	177/235	23538909	1,13005	2203	4300	6503	SO:0001583	missense	4824				negative regulation of estrogen receptor binding|negative regulation of transcription, DNA-dependent|positive regulation of cell division|positive regulation of mitotic cell cycle|positive regulation of transcription from RNA polymerase II promoter	nucleus	estrogen receptor activity|estrogen receptor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region sequence-specific DNA binding	g.chr8:23538909T>C		CCDS6042.1, CCDS59095.1	8p21.2	2012-03-09	2007-07-09	2002-10-04	ENSG00000167034	ENSG00000167034		"Homeoboxes / ANTP class : NKL subclass"	7838	protein-coding gene	gene with protein product		602041	"NK homeobox (Drosophila), family 3, A", "NK3 transcription factor related, locus 1 (Drosophila)"	NKX3A		9226374	Standard	NM_006167		Approved	NKX3.1, BAPX2	uc011kzx.2	Q99801	OTTHUMG00000097851	ENST00000380871.4:c.530A>G	8.37:g.23538909T>C	ENSP00000370253:p.Tyr177Cys					NKX3-1_ENST00000523261.1_Missense_Mutation_p.Y102C	p.Y177C	NM_006167.3	NP_006158.2	Q99801	NKX31_HUMAN		Colorectal(74;0.0146)|COAD - Colon adenocarcinoma(73;0.061)|BRCA - Breast invasive adenocarcinoma(99;0.0708)	2	567	-		Prostate(55;0.114)	177					O15465|Q9H2P4|Q9H2P5|Q9H2P6|Q9H2P7|Q9HBG0	Missense_Mutation	SNP	ENST00000380871.4	37	c.530A>G	CCDS6042.1	.	.	.	.	.	.	.	.	.	.	T	23.0	4.357538	0.82243	0.0	1.16E-4	ENSG00000167034	ENST00000380871;ENST00000300332;ENST00000523261	D;D	0.96265	-3.96;-3.96	5.66	5.66	0.87406	Homeobox, eukaryotic (1);Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);Homeobox, conserved site (1);	0.084010	0.49305	D	0.000157	D	0.98027	0.9350	M	0.82716	2.605	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98844	1.0756	10	0.87932	D	0	.	14.1488	0.65367	0.0:0.0:0.0:1.0	.	177	Q99801	NKX31_HUMAN	C	177;133;102	ENSP00000370253:Y177C;ENSP00000429729:Y102C	ENSP00000300332:Y133C	Y	-	2	0	NKX3-1	23594854	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	7.975000	0.88055	2.285000	0.76669	0.533000	0.62120	TAT		0.582	NKX3-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215141.2			80	250	0	0	0	1	0	80	250					C	23538909	T	C	23538909	3	2	43	1	0	0	0	0	1	0	0	0	10455	1406	49	4	178	4	NKX3-1	8	23538909	Missense_Mutation	SNP	T	TCGA-CH-5794-01A-11D-1576-08		23538909	122825113	24	2312											
ALDOB	229	broad.mit.edu	37	chr9	104192139	104192139	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tggaaaaggatcacacccccGatgctctggttgatggaact	11	9	11	10	1	2	1	1	1	1	0	2	5	2	4	2	4	2	2	2	4	3	1			TCGA-CH-5794-01A-11D-1576-08	TCGA-CH-5794-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c91139ac-56d3-49cd-852b-9732dfb3e77e	f61e6c4e-baf6-48ca-aecd-0e3ca77aeeb0	g.chr9:104192139G>A	ENST00000374855.4	-	3	346	c.222C>T	c.(220-222)atC>atT	p.I74I	ALDOB_ENST00000468981.3_5'UTR	NM_000035.3	NP_000026.2	P05062	ALDOB_HUMAN	aldolase B, fructose-bisphosphate	74			I -> T (in HFI; affects proper folding). {ECO:0000269|PubMed:15532022}.		carbohydrate metabolic process (GO:0005975)|fructose 1,6-bisphosphate metabolic process (GO:0030388)|fructose catabolic process (GO:0006001)|fructose metabolic process (GO:0006000)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|NADH oxidation (GO:0006116)|positive regulation of ATPase activity (GO:0032781)|small molecule metabolic process (GO:0044281)|vacuolar proton-transporting V-type ATPase complex assembly (GO:0070072)	centriolar satellite (GO:0034451)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule organizing center (GO:0005815)	ATPase binding (GO:0051117)|cytoskeletal protein binding (GO:0008092)|fructose binding (GO:0070061)|fructose-1-phosphate aldolase activity (GO:0061609)|fructose-bisphosphate aldolase activity (GO:0004332)|identical protein binding (GO:0042802)	p.I74I(2)		central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(5)|prostate(2)|skin(4)|urinary_tract(1)	24		Acute lymphoblastic leukemia(62;0.0559)				TCACACCCCCGATGCTCTGGT	0.532																																						ENST00000374855.4																			2	Substitution - coding silent(2)	p.I74I(2)	large_intestine(1)|prostate(1)	central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(5)|prostate(2)|skin(4)|urinary_tract(1)	24						c.(220-222)atC>atT		aldolase B, fructose-bisphosphate							171	159	163					9																	104192139		2203	4300	6503	SO:0001819	synonymous_variant	229				fructose 1,6-bisphosphate metabolic process|fructose catabolic process|gluconeogenesis|glycolysis|NADH oxidation|positive regulation of ATPase activity|vacuolar proton-transporting V-type ATPase complex assembly	centriolar satellite|cytosol	ATPase binding|cytoskeletal protein binding|fructose binding|fructose-bisphosphate aldolase activity|identical protein binding	g.chr9:104192139G>A	X01098	CCDS6756.1	9q21.3-q22.2	2008-02-05			ENSG00000136872	ENSG00000136872	4.1.2.13		417	protein-coding gene	gene with protein product		612724					Standard	NM_000035		Approved		uc004bbk.2	P05062	OTTHUMG00000020378	ENST00000374855.4:c.222C>T	9.37:g.104192139G>A						ALDOB_ENST00000468981.2_5'UTR	p.I74I	NM_000035.3	NP_000026.2	P05062	ALDOB_HUMAN			3	346	-		Acute lymphoblastic leukemia(62;0.0559)	74		I -> T (in HFI; affects proper folding).			Q13741|Q13742|Q5T7D6	Silent	SNP	ENST00000374855.4	37	c.222C>T	CCDS6756.1																																																																																				0.532	ALDOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053434.2			94	247	0	0	0	1	0	94	247					A	104192139	G	A	104192139	2	1	43	1	0	0	0	0	0	0	0	1	508	1048	37	2		2	ALDOB	9	104192139	Silent	SNP	G	TCGA-CH-5794-01A-11D-1576-08		104192139	37021292	25	2313											
MUSK	4593	broad.mit.edu	37	chr9	113547892	113547892	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	accccatgtaccagaggatgCcgctccttctgaaccccaaa	11	7	7	16	1	1	2	0	1	1	1	2	3	2	3	7	1	3	2	7	1	3	2			TCGA-CH-5794-01A-11D-1576-08	TCGA-CH-5794-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c91139ac-56d3-49cd-852b-9732dfb3e77e	f61e6c4e-baf6-48ca-aecd-0e3ca77aeeb0	g.chr9:113547892C>T	ENST00000374448.4	+	13	1806	c.1672C>T	c.(1672-1674)Ccg>Tcg	p.P558S	MUSK_ENST00000416899.2_Missense_Mutation_p.P550S|MUSK_ENST00000374438.1_Missense_Mutation_p.P74S|MUSK_ENST00000189978.5_Missense_Mutation_p.P558S	NM_001166281.1|NM_005592.3	NP_001159753.1|NP_005583.1	O15146	MUSK_HUMAN	muscle, skeletal, receptor tyrosine kinase	558					cell differentiation (GO:0030154)|extracellular matrix organization (GO:0030198)|memory (GO:0007613)|multicellular organismal development (GO:0007275)|neuromuscular junction development (GO:0007528)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of protein geranylgeranylation (GO:2000541)|positive regulation of protein phosphorylation (GO:0001934)|protein autophosphorylation (GO:0046777)|regulation of synaptic growth at neuromuscular junction (GO:0008582)|regulation of transcription, DNA-templated (GO:0006355)|skeletal muscle acetylcholine-gated channel clustering (GO:0071340)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|neuromuscular junction (GO:0031594)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(23)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	49						CCAGAGGATGCCGCTCCTTCT	0.498																																						ENST00000416899.2																			0				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(23)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	49						c.(1648-1650)Ccg>Tcg		muscle, skeletal, receptor tyrosine kinase							215	207	209					9																	113547892		1966	4156	6122	SO:0001583	missense	4593				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr9:113547892C>T	AF006464	CCDS48005.1, CCDS75874.1	9q31.3-q32	2013-01-29			ENSG00000030304	ENSG00000030304		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	7525	protein-coding gene	gene with protein product		601296				7546737	Standard	NM_005592		Approved		uc022blv.1	O15146	OTTHUMG00000020485	ENST00000374448.4:c.1672C>T	9.37:g.113547892C>T	ENSP00000363571:p.Pro558Ser					MUSK_ENST00000374438.1_Missense_Mutation_p.P74S|MUSK_ENST00000189978.5_Missense_Mutation_p.P558S|MUSK_ENST00000374448.4_Missense_Mutation_p.P558S	p.P550S			O15146	MUSK_HUMAN			11	1774	+			558					Q32MJ8|Q32MJ9|Q5VZW7|Q5VZW8	Missense_Mutation	SNP	ENST00000374448.4	37	c.1648C>T	CCDS48005.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.084498	0.76642	.	.	ENSG00000030304	ENST00000189978;ENST00000374448;ENST00000543335;ENST00000374447;ENST00000545907;ENST00000374441;ENST00000416899;ENST00000374438	T;D	0.88664	-0.83;-2.41	5.86	5.86	0.93980	.	0.000000	0.85682	D	0.000000	D	0.92394	0.7586	L	0.45228	1.405	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.90595	0.4540	10	0.33940	T	0.23	.	19.1684	0.93567	0.0:1.0:0.0:0.0	.	558	O15146	MUSK_HUMAN	S	564;558;558;472;472;74;556;74	ENSP00000363571:P558S;ENSP00000363561:P74S	ENSP00000189978:P564S	P	+	1	0	MUSK	112587713	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.487000	0.81328	2.777000	0.95525	0.655000	0.94253	CCG		0.498	MUSK-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding				4	253	0	0	0	1	0	4	253					T	113547892	C	T	113547892	3	4	43	1	0	0	0	0	1	0	0	0	9989	739	26	3	1754	3	MUSK	9	113547892	Missense_Mutation	SNP	C	TCGA-CH-5794-01A-11D-1576-08	9355753	113547892	27665539	26	2314											
FIBCD1	84929	broad.mit.edu	37	chr9	133799131	133799131	+	Splice_Site	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcccagcctgggacactcacCgtccagccgccgccgtccgt	5	5	11	20	5	1	0	1	0	0	0	3	1	3	1	8	1	2	0	8	1	0	0			TCGA-CH-5794-01A-11D-1576-08	TCGA-CH-5794-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c91139ac-56d3-49cd-852b-9732dfb3e77e	f61e6c4e-baf6-48ca-aecd-0e3ca77aeeb0	g.chr9:133799131C>A	ENST00000372338.4	-	4	1091	c.849G>T	c.(847-849)acG>acT	p.T283T	FIBCD1_ENST00000372337.2_Splice_Site_p.T125T|FIBCD1_ENST00000448616.1_Splice_Site_p.T283T|FIBCD1_ENST00000253018.4_Splice_Site_p.T125T	NM_032843.4	NP_116232.3	Q8N539	FBCD1_HUMAN	fibrinogen C domain containing 1	283	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.					integral component of membrane (GO:0016021)|membrane (GO:0016020)	chitin binding (GO:0008061)|metal ion binding (GO:0046872)	p.T283T(1)		kidney(1)|large_intestine(3)|lung(2)|prostate(5)|urinary_tract(1)	12	all_hematologic(7;0.0028)			OV - Ovarian serous cystadenocarcinoma(145;3.52e-05)|Epithelial(140;0.00019)		GGACACTCACCGTCCAGCCGC	0.682																																						ENST00000372338.4																			1	Substitution - coding silent(1)	p.T283T(1)	prostate(1)	kidney(1)|large_intestine(3)|lung(2)|prostate(5)|urinary_tract(1)	12						c.e4+1		fibrinogen C domain containing 1							35	32	33					9																	133799131		2202	4300	6502	SO:0001630	splice_region_variant	84929				signal transduction	extracellular space|integral to membrane	chitin binding|metal ion binding|receptor binding	g.chr9:133799131C>A	AK027716	CCDS6937.1	9q34.2	2013-02-06			ENSG00000130720	ENSG00000130720		"Fibrinogen C domain containing"	25922	protein-coding gene	gene with protein product		613357				12975309	Standard	NM_001145106		Approved	FLJ14810	uc004bzz.3	Q8N539	OTTHUMG00000020814	ENST00000372338.4:c.849+1G>T	9.37:g.133799131C>A						FIBCD1_ENST00000372337.2_Splice_Site_p.T125_splice|FIBCD1_ENST00000253018.4_Splice_Site_p.T125_splice|FIBCD1_ENST00000448616.1_Splice_Site_p.T283_splice	p.T283_splice	NM_032843.4	NP_116232.3	Q8N539	FBCD1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;3.52e-05)|Epithelial(140;0.00019)	4	1091	-	all_hematologic(7;0.0028)		283			Fibrinogen C-terminal.		A3KFK0|Q6UXK6|Q96SJ7	Splice_Site	SNP	ENST00000372338.4	37	c.849_splice	CCDS6937.1	.	.	.	.	.	.	.	.	.	.	C	8.226	0.803669	0.16467	.	.	ENSG00000130720	ENST00000444139	.	.	.	5.67	4.78	0.61160	.	.	.	.	.	T	0.62109	0.2401	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.60439	-0.7263	4	.	.	.	.	10.2832	0.43552	0.0:0.8431:0.0:0.1569	.	.	.	.	L	237	.	.	R	-	2	0	FIBCD1	132788952	1.000000	0.71417	1.000000	0.80357	0.060000	0.15804	2.683000	0.46943	1.396000	0.46663	0.563000	0.77884	CGG		0.682	FIBCD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054687.2	NM_032843	Silent	9	16	1	0	0.000442599	1	0.000463676	9	16					A	133799131	C	A	133799131	5	1	43	1	0	0	0	0	0	0	1	0	5884	666	23	5	552	5	FIBCD1	9	133799131	Splice_Site	SNP	C	TCGA-CH-5794-01A-11D-1576-08	20251239	133799131	7414300	27	2315											
GRID1	2894	broad.mit.edu	37	chr10	87628819	87628819	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cgcagagcagggaggagatgCggtggttgttcctcgtgcat	7	9	17	8	3	0	2	0	0	0	2	2	4	1	3	1	4	3	5	1	4	0	2			TCGA-CH-5794-01A-11D-1576-08	TCGA-CH-5794-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c91139ac-56d3-49cd-852b-9732dfb3e77e	f61e6c4e-baf6-48ca-aecd-0e3ca77aeeb0	g.chr10:87628819C>T	ENST00000327946.7	-	6	984	c.899G>A	c.(898-900)cGc>cAc	p.R300H		NM_017551.2	NP_060021.1	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1	300					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|social behavior (GO:0035176)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|ionotropic glutamate receptor complex (GO:0008328)|postsynaptic membrane (GO:0045211)	extracellular-glutamate-gated ion channel activity (GO:0005234)|ionotropic glutamate receptor activity (GO:0004970)	p.R300H(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106						GGAGGAGATGCGGTGGTTGTT	0.567										Multiple Myeloma(13;0.14)																												ENST00000327946.7																			1	Substitution - Missense(1)	p.R300H(1)	prostate(1)	NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106						c.(898-900)cGc>cAc		glutamate receptor, ionotropic, delta 1	L-Glutamic Acid(DB00142)						202	151	168					10																	87628819		2203	4300	6503	SO:0001583	missense	2894					cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity	g.chr10:87628819C>T	AB033046	CCDS31236.1	10q22	2012-08-29			ENSG00000182771	ENSG00000182771		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4575	protein-coding gene	gene with protein product		610659					Standard	NM_017551		Approved	GluD1, KIAA1220	uc001kdl.1	Q9ULK0	OTTHUMG00000018650	ENST00000327946.7:c.899G>A	10.37:g.87628819C>T	ENSP00000330148:p.Arg300His	Multiple Myeloma(13;0.14)					p.R300H	NM_017551.2	NP_060021.1	Q9ULK0	GRID1_HUMAN			6	984	-			300					B3KXD5|B7Z7L0|Q8IXT3	Missense_Mutation	SNP	ENST00000327946.7	37	c.899G>A	CCDS31236.1	.	.	.	.	.	.	.	.	.	.	C	27.1	4.804028	0.90623	.	.	ENSG00000182771	ENST00000327946	D	0.86097	-2.07	5.71	5.71	0.89125	Extracellular ligand-binding receptor (1);	0.000000	0.85682	D	0.000000	D	0.91646	0.7360	M	0.64997	1.995	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.91965	0.5582	10	0.87932	D	0	.	18.8388	0.92174	0.0:1.0:0.0:0.0	.	300	Q9ULK0	GRID1_HUMAN	H	300	ENSP00000330148:R300H	ENSP00000330148:R300H	R	-	2	0	GRID1	87618799	1.000000	0.71417	1.000000	0.80357	0.875000	0.50365	7.742000	0.85008	2.686000	0.91538	0.655000	0.94253	CGC		0.567	GRID1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049148.3	XM_043613		41	55	0	0	0	1	0	41	55					T	87628819	C	T	87628819	3	4	43	1	0	0	0	0	1	0	0	0	6771	768	27	1	2174	1	GRID1	10	87628819	Missense_Mutation	SNP	C	TCGA-CH-5794-01A-11D-1576-08		87628819	47905928	28	2316											
ARFGAP2	84364	broad.mit.edu	37	chr11	47198145	47198145	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agaaaacaccgtacgtgatgCtggcccaactcggattcttg	11	9	10	11	3	1	2	0	1	1	1	2	3	1	3	2	2	4	2	2	2	4	3			TCGA-CH-5794-01A-11D-1576-08	TCGA-CH-5794-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c91139ac-56d3-49cd-852b-9732dfb3e77e	f61e6c4e-baf6-48ca-aecd-0e3ca77aeeb0	g.chr11:47198145C>T	ENST00000524782.1	-	2	341	c.113G>A	c.(112-114)aGc>aAc	p.S38N	ARFGAP2_ENST00000395449.3_5'UTR|ARFGAP2_ENST00000319543.6_5'UTR|ARFGAP2_ENST00000419701.2_5'UTR|ARFGAP2_ENST00000426335.2_Missense_Mutation_p.S38N	NM_001242832.1|NM_032389.4	NP_001229761.1|NP_115765.2	Q8N6H7	ARFG2_HUMAN	ADP-ribosylation factor GTPase activating protein 2	38	Arf-GAP. {ECO:0000255|PROSITE- ProRule:PRU00288}.				protein transport (GO:0015031)|regulation of ARF GTPase activity (GO:0032312)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)	p.S38N(1)		breast(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23						GTACGTGATGCTGGCCCAACT	0.632																																						ENST00000524782.1																			1	Substitution - Missense(1)	p.S38N(1)	prostate(1)	breast(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23						c.(112-114)aGc>aAc		ADP-ribosylation factor GTPase activating protein 2							76	76	76					11																	47198145		2201	4298	6499	SO:0001583	missense	84364				protein transport|regulation of ARF GTPase activity|vesicle-mediated transport	Golgi membrane|nucleolus|plasma membrane	ARF GTPase activator activity|zinc ion binding	g.chr11:47198145C>T	AK027482	CCDS7926.1, CCDS73283.1	11p11.2-p11.12	2012-10-05	2008-01-09	2008-01-09	ENSG00000149182	ENSG00000149182		"ADP-ribosylation factor GTPase activating proteins"	13504	protein-coding gene	gene with protein product		606908	"zinc finger protein 289, ID1 regulated"	ZNF289		11278321, 14690497	Standard	NM_032389		Approved	IRZ, Zfp289, FLJ14576	uc001ndt.3	Q8N6H7	OTTHUMG00000166773	ENST00000524782.1:c.113G>A	11.37:g.47198145C>T	ENSP00000434442:p.Ser38Asn					ARFGAP2_ENST00000319543.6_5'UTR|ARFGAP2_ENST00000426335.2_Missense_Mutation_p.S38N|ARFGAP2_ENST00000419701.2_5'UTR|ARFGAP2_ENST00000395449.3_5'UTR	p.S38N	NM_001242832.1|NM_032389.4	NP_001229761.1|NP_115765.2	Q8N6H7	ARFG2_HUMAN			2	341	-			38			Arf-GAP.		B4DX29|B7Z9M7|D3DQQ9|Q3LIF2|Q8N3I1|Q96SX7	Missense_Mutation	SNP	ENST00000524782.1	37	c.113G>A	CCDS7926.1	.	.	.	.	.	.	.	.	.	.	C	34	5.309429	0.95629	.	.	ENSG00000149182	ENST00000426335;ENST00000524782;ENST00000526342;ENST00000527927;ENST00000525398;ENST00000525314;ENST00000528444;ENST00000530596	T;T;T;T;T;T;T;T	0.55413	0.52;0.52;0.52;0.52;0.52;0.52;0.52;0.52	5.49	3.6	0.41247	.	0.042391	0.85682	N	0.000000	T	0.79592	0.4472	H	0.97023	3.925	0.80722	D	1	D;D;D;D	0.89917	1.0;0.994;1.0;0.999	D;D;D;D	0.91635	0.999;0.974;0.997;0.998	T	0.82725	-0.0315	10	0.87932	D	0	-19.3778	10.3	0.43646	0.136:0.7938:0.0:0.0702	.	38;38;38;38	B7Z6H9;B3KV00;G5E9L0;Q8N6H7	.;.;.;ARFG2_HUMAN	N	38	ENSP00000400226:S38N;ENSP00000434442:S38N;ENSP00000437305:S38N;ENSP00000434433:S38N;ENSP00000431939:S38N;ENSP00000434809:S38N;ENSP00000431684:S38N;ENSP00000435488:S38N	ENSP00000400226:S38N	S	-	2	0	ARFGAP2	47154721	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.818000	0.86416	0.674000	0.31244	0.462000	0.41574	AGC		0.632	ARFGAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391425.1	NM_032389		3	57	0	0	0	1	0	3	57					T	47198145	C	T	47198145	3	4	43	1	0	0	0	0	1	0	0	0	850	797	28	3	1512	3	ARFGAP2	11	47198145	Missense_Mutation	SNP	C	TCGA-CH-5794-01A-11D-1576-08		47198145	87808371	29	2317											
IGHMBP2	3508	broad.mit.edu	37	chr11	68682435	68682435	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctggatgcggttttagcgCggagcgacagtgcccagatt	7	9	14	11	4	0	1	0	0	0	1	0	4	0	3	2	3	4	1	2	3	1	3			TCGA-CH-5794-01A-11D-1576-08	TCGA-CH-5794-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c91139ac-56d3-49cd-852b-9732dfb3e77e	f61e6c4e-baf6-48ca-aecd-0e3ca77aeeb0	g.chr11:68682435C>T	ENST00000255078.3	+	6	967	c.856C>T	c.(856-858)Cgg>Tgg	p.R286W		NM_002180.2	NP_002171.2	P38935	SMBP2_HUMAN	immunoglobulin mu binding protein 2	286	Leu-rich.				ATP catabolic process (GO:0006200)|cell death (GO:0008219)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|protein homooligomerization (GO:0051260)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|translation (GO:0006412)	axon (GO:0030424)|cytoplasm (GO:0005737)|growth cone (GO:0030426)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|ATP-dependent 5'-3' DNA helicase activity (GO:0043141)|ATP-dependent 5'-3' RNA helicase activity (GO:0032575)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA-dependent ATPase activity (GO:0008094)|ribosome binding (GO:0043022)|RNA binding (GO:0003723)|RNA-dependent ATPase activity (GO:0008186)|single-stranded DNA binding (GO:0003697)|transcription factor binding (GO:0008134)|tRNA binding (GO:0000049)|zinc ion binding (GO:0008270)	p.R286W(2)		central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|liver(1)|lung(15)|ovary(2)|prostate(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			GGTTTTAGCGCGGAGCGACAG	0.597																																						ENST00000255078.3																			2	Substitution - Missense(2)	p.R286W(2)	large_intestine(1)|prostate(1)	central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|liver(1)|lung(15)|ovary(2)|prostate(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(856-858)Cgg>Tgg		immunoglobulin mu binding protein 2							112	100	104					11																	68682435		2200	4294	6494	SO:0001583	missense	3508				cell death|DNA recombination|DNA repair|DNA replication|protein homooligomerization|transcription, DNA-dependent|translation	axon|growth cone|nucleus|ribonucleoprotein complex	ATP binding|ATP-dependent 5'-3' DNA helicase activity|ATP-dependent 5'-3' RNA helicase activity|ribosome binding|single-stranded DNA binding|transcription factor binding|tRNA binding|zinc ion binding	g.chr11:68682435C>T	L14754	CCDS8187.1	11q13.3	2014-09-17			ENSG00000132740	ENSG00000132740		"Zinc fingers, AN1-type domain containing"	5542	protein-coding gene	gene with protein product	"cardiac transcription factor 1", "zinc finger, AN1-type domain 7"	600502				8349627	Standard	NM_002180		Approved	ZFAND7, SMUBP2, CATF1, SMARD1, HCSA, HMN6	uc001ook.1	P38935	OTTHUMG00000167894	ENST00000255078.3:c.856C>T	11.37:g.68682435C>T	ENSP00000255078:p.Arg286Trp						p.R286W	NM_002180.2	NP_002171.2	P38935	SMBP2_HUMAN	STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)		6	967	+			286			Leu-rich.		A0PJD2|Q00443|Q14177	Missense_Mutation	SNP	ENST00000255078.3	37	c.856C>T	CCDS8187.1	.	.	.	.	.	.	.	.	.	.	C	14.20	2.464362	0.43736	.	.	ENSG00000132740	ENST00000255078	D	0.83163	-1.69	3.71	2.77	0.32553	DEAD-like helicase (1);Helicase/UvrB domain (1);ATPase, AAA+ type, core (1);	0.267991	0.38381	N	0.001711	D	0.88190	0.6370	M	0.63843	1.955	0.80722	D	1	D	0.89917	1.0	D	0.76071	0.987	D	0.88114	0.2827	10	0.72032	D	0.01	-8.166	11.4816	0.50328	0.1818:0.8182:0.0:0.0	.	286	P38935	SMBP2_HUMAN	W	286	ENSP00000255078:R286W	ENSP00000255078:R286W	R	+	1	2	IGHMBP2	68439011	0.993000	0.37304	0.010000	0.14722	0.048000	0.14542	3.372000	0.52387	0.868000	0.35678	0.555000	0.69702	CGG		0.597	IGHMBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396862.1	NM_002180		37	135	0	0	0	1	0	37	135					T	68682435	C	T	68682435	3	4	43	1	0	0	0	0	1	0	0	0	7591	759	27	1	878	1	IGHMBP2	11	68682435	Missense_Mutation	SNP	C	TCGA-CH-5794-01A-11D-1576-08	21484290	68682435	66324081	30	2318											
GDPD5	81544	broad.mit.edu	37	chr11	75152348	75152349	+	Frame_Shift_Ins	INS	-	-	G																															acactcaggttccaggacgcINSgtagtccctgtggggcaggg																								rs188755757	byFrequency	TCGA-CH-5794-01A-11D-1576-08	TCGA-CH-5794-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c91139ac-56d3-49cd-852b-9732dfb3e77e	f61e6c4e-baf6-48ca-aecd-0e3ca77aeeb0	g.chr11:75152348_75152349insG	ENST00000336898.3	-	14	2169_2170	c.1332_1333insC	c.(1330-1335)tacgcgfs	p.A445fs	GDPD5_ENST00000526177.1_Frame_Shift_Ins_p.A307fs|GDPD5_ENST00000443276.2_3'UTR|GDPD5_ENST00000533805.1_Frame_Shift_Ins_p.A200fs|GDPD5_ENST00000376282.3_Frame_Shift_Ins_p.A326fs|GDPD5_ENST00000533784.1_Frame_Shift_Ins_p.A326fs|GDPD5_ENST00000529721.1_Frame_Shift_Ins_p.A445fs	NM_030792.6	NP_110419.5	Q8WTR4	GDPD5_HUMAN	glycerophosphodiester phosphodiesterase domain containing 5	445	GP-PDE.				cerebral cortex neuron differentiation (GO:0021895)|glycerol metabolic process (GO:0006071)|lipid metabolic process (GO:0006629)|negative regulation of Notch signaling pathway (GO:0045746)|neuron projection development (GO:0031175)|positive regulation of neuron differentiation (GO:0045666)|regulation of timing of cell differentiation (GO:0048505)|spinal cord motor neuron differentiation (GO:0021522)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	glycerophosphodiester phosphodiesterase activity (GO:0008889)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|skin(2)	20						TTCCAGGACGCGTAGTCCCTGT	0.629																																						ENST00000526177.1																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|skin(2)	20						c.(916-921)tacgtcfs		glycerophosphodiester phosphodiesterase domain containing 5																																				SO:0001589	frameshift_variant	81544				glycerol metabolic process|lipid metabolic process|nervous system development	endomembrane system|growth cone|integral to membrane|perinuclear region of cytoplasm	glycerophosphodiester phosphodiesterase activity	g.chr11:75152348_75152349insG	AF318377	CCDS8238.1	11q13.4-q13.5	2011-01-25				ENSG00000158555			28804	protein-coding gene	gene with protein product		609632				18667693, 17275818	Standard	NM_030792		Approved	PP1665, GDE2	uc001owp.4	Q8WTR4		ENST00000336898.3:c.1333dupC	11.37:g.75152349_75152349dupG	ENSP00000337972:p.Ala445fs					GDPD5_ENST00000443276.2_3'UTR|GDPD5_ENST00000533784.1_Frame_Shift_Ins_p.V326fs|GDPD5_ENST00000529721.1_Frame_Shift_Ins_p.V445fs|GDPD5_ENST00000336898.3_Frame_Shift_Ins_p.V445fs|GDPD5_ENST00000533805.1_Frame_Shift_Ins_p.V200fs|GDPD5_ENST00000376282.3_Frame_Shift_Ins_p.V326fs	p.V307fs			Q8WTR4	GDPD5_HUMAN			10	2796_2797	-			445			GDPD.		Q49AQ5|Q6UX76|Q7Z4S0|Q8N781|Q8NCB7|Q8TB77	Frame_Shift_Ins	INS	ENST00000336898.3	37	c.918_919insC	CCDS8238.1																																																																																				0.629	GDPD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384409.1	NM_030792		20	80						20	80	---	---	---	---	G	75152349	-	G	75152348	7	5	43	1	0	1	1	0	0	0	0	0	6327	768	27	0	500	0	GDPD5	11	75152348	Frame_Shift_Ins	INS	-	TCGA-CH-5794-01A-11D-1576-08	6469913	75152348	59854168	31	2319											
FMNL3	91010	broad.mit.edu	37	chr12	50041517	50041519	+	In_Frame_Del	DEL	GGG	GGG	-																															gaatgaatcggacaaatactGggaagaatacagaaggaggt																										TCGA-CH-5794-01A-11D-1576-08	TCGA-CH-5794-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c91139ac-56d3-49cd-852b-9732dfb3e77e	f61e6c4e-baf6-48ca-aecd-0e3ca77aeeb0	g.chr12:50041517_50041519delGGG	ENST00000293590.5	-	23	2978_2980	c.2745_2747delCCC	c.(2743-2748)ttccca>tta	p.915_916FP>L	FMNL3_ENST00000335154.5_In_Frame_Del_p.915_916FP>L|FMNL3_ENST00000550488.1_In_Frame_Del_p.914_915FP>L|FMNL3_ENST00000352151.5_In_Frame_Del_p.864_865FP>L			Q8IVF7	FMNL3_HUMAN	formin-like 3	915	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.				actin cytoskeleton organization (GO:0030036)|cell migration (GO:0016477)|cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)	GTPase activating protein binding (GO:0032794)			breast(4)|endometrium(7)|kidney(2)|large_intestine(6)|lung(11)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|stomach(1)	39						GACAAATACTGGGAAGAATACAG	0.512																																						ENST00000335154.5																			0				breast(4)|endometrium(7)|kidney(2)|large_intestine(6)|lung(11)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|stomach(1)	39						c.(2743-2748)tta>tt		formin-like 3																																				SO:0001651	inframe_deletion	91010				actin cytoskeleton organization		actin binding|Rho GTPase binding	g.chr12:50041517_50041519delGGG	AK128195	CCDS41780.1, CCDS44874.1	12q13.12	2006-04-10							23698	protein-coding gene	gene with protein product						12684686	Standard	NM_198900		Approved	DKFZp762B245, MGC45819, WBP3	uc001ruv.1	Q8IVF7	OTTHUMG00000169651	ENST00000293590.5:c.2745_2747delCCC	12.37:g.50041517_50041519delGGG	ENSP00000293590:p.Phe915_Pro916delinsLeu					FMNL3_ENST00000352151.5_In_Frame_Del_p.FP864del|FMNL3_ENST00000550488.1_In_Frame_Del_p.FP914del|FMNL3_ENST00000293590.5_In_Frame_Del_p.FP915del	p.FP915del	NM_175736.4	NP_783863.4	Q8IVF7	FMNL3_HUMAN			23	2978_2980	-			915			FH2.		B0JZA7|Q6ZRJ1	In_Frame_Del	DEL	ENST00000293590.5	37	c.2745_2747delCCC																																																																																					0.512	FMNL3-201	KNOWN	basic	protein_coding	protein_coding		NM_175736		17	92						17	92	---	---	---	---	-	50041519	GGG	-	50041517	7	5	43	1	0	1	0	1	0	0	0	0	5953	1348	47	0	352	0	FMNL3	12	50041517	In_Frame_Del	DEL	GGG	TCGA-CH-5794-01A-11D-1576-08		50041517	83810378	32	2320											
ATP2A2	488	broad.mit.edu	37	chr12	110765384	110765384	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aacattgctgctgggaaagcTatgggagtggtggtagcaac	11	9	15	6	0	0	0	0	0	0	0	0	2	0	2	0	4	6	5	0	4	5	3	rs549471747		TCGA-CH-5794-01A-11D-1576-08	TCGA-CH-5794-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c91139ac-56d3-49cd-852b-9732dfb3e77e	f61e6c4e-baf6-48ca-aecd-0e3ca77aeeb0	g.chr12:110765384T>A	ENST00000539276.2	+	8	766	c.657T>A	c.(655-657)gcT>gcA	p.A219A	ATP2A2_ENST00000308664.6_Silent_p.A219A|ATP2A2_ENST00000395494.2_Silent_p.A192A			P16615	AT2A2_HUMAN	ATPase, Ca++ transporting, cardiac muscle, slow twitch 2	219					blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cell adhesion (GO:0007155)|cellular calcium ion homeostasis (GO:0006874)|epidermis development (GO:0008544)|ER-nucleus signaling pathway (GO:0006984)|ion transmembrane transport (GO:0034220)|negative regulation of heart contraction (GO:0045822)|positive regulation of heart rate (GO:0010460)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of the force of heart contraction (GO:0002026)|relaxation of cardiac muscle (GO:0055119)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|transport (GO:0006810)	endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|platelet dense tubular network membrane (GO:0031095)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|calcium-transporting ATPase activity involved in regulation of cardiac muscle cell membrane potential (GO:0086039)|enzyme binding (GO:0019899)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)|S100 protein binding (GO:0044548)	p.A219A(1)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	38						CTGGGAAAGCTATGGGAGTGG	0.468																																						ENST00000395494.2																			1	Substitution - coding silent(1)	p.A219A(1)	prostate(1)	NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	38						c.(574-576)gcT>gcA		ATPase, Ca++ transporting, cardiac muscle, slow twitch 2							191	190	190					12																	110765384		2203	4300	6503	SO:0001819	synonymous_variant	488				ATP biosynthetic process|cell adhesion|epidermis development|platelet activation|sarcoplasmic reticulum calcium ion transport	integral to plasma membrane|microsome|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	ATP binding|calcium-transporting ATPase activity|protein C-terminus binding|S100 alpha binding	g.chr12:110765384T>A		CCDS9143.1, CCDS9144.1	12q24.11	2012-10-22			ENSG00000174437	ENSG00000174437	3.6.3.8	"ATPases / P-type"	812	protein-coding gene	gene with protein product	"sarcoplasmic/endoplasmic reticulum calcium ATPase 2", "calcium pump 2"	108740		ATP2B, DAR		10080178	Standard	NM_170665		Approved	SERCA2	uc001tqk.4	P16615	OTTHUMG00000169327	ENST00000539276.2:c.657T>A	12.37:g.110765384T>A						ATP2A2_ENST00000539276.2_Silent_p.A219A|ATP2A2_ENST00000308664.6_Silent_p.A219A	p.A192A			P16615	AT2A2_HUMAN			7	1139	+			219					A6NDN7|B4DF05|P16614|Q86VJ2	Silent	SNP	ENST00000539276.2	37	c.576T>A	CCDS9144.1	.	.	.	.	.	.	.	.	.	.	T	11.38	1.620650	0.28889	.	.	ENSG00000174437	ENST00000548169	.	.	.	5.38	-1.87	0.07737	.	.	.	.	.	T	0.41650	0.1168	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.30592	-0.9973	4	.	.	.	.	2.6638	0.05034	0.117:0.308:0.115:0.46	.	.	.	.	N	110	.	.	Y	+	1	0	ATP2A2	109249767	0.262000	0.24073	0.994000	0.49952	0.998000	0.95712	-0.632000	0.05489	-0.210000	0.10140	0.477000	0.44152	TAT		0.468	ATP2A2-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000403539.1	NM_001681		100	239	0	0	0	1	0	100	239					A	110765384	T	A	110765384	2	1	43	1	0	0	0	0	0	0	0	1	1137	1509	53	5		5	ATP2A2	12	110765384	Silent	SNP	T	TCGA-CH-5794-01A-11D-1576-08	60723867	110765384	23086511	33	2321											
TEP1	7011	broad.mit.edu	37	chr14	20846220	20846220	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccgtcagtaactggcaacccGcatgcaggaaaagcgcagca	13	4	11	13	3	1	0	1	0	0	0	1	1	1	1	2	2	5	6	2	2	4	1	rs553923395		TCGA-CH-5794-01A-11D-1576-08	TCGA-CH-5794-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c91139ac-56d3-49cd-852b-9732dfb3e77e	f61e6c4e-baf6-48ca-aecd-0e3ca77aeeb0	g.chr14:20846220G>A	ENST00000262715.5	-	39	5724	c.5684C>T	c.(5683-5685)gCg>gTg	p.A1895V	TEP1_ENST00000556935.1_Missense_Mutation_p.A1787V|TEP1_ENST00000545983.1_Missense_Mutation_p.A233V	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	1895					RNA-dependent DNA replication (GO:0006278)|telomere maintenance via recombination (GO:0000722)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|ribonucleoprotein complex (GO:0030529)|telomerase holoenzyme complex (GO:0005697)	ATP binding (GO:0005524)|RNA binding (GO:0003723)			NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		CTGGCAACCCGCATGCAGGAA	0.592													G|||	1	0.000199681	8e-04	0	5008	,	,		18555	0		0	False		,,,				2504	0					ENST00000262715.5																			0				NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96						c.(5683-5685)gCg>gTg		telomerase-associated protein 1							82	81	82					14																	20846220		2203	4300	6503	SO:0001583	missense	7011				telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding	g.chr14:20846220G>A		CCDS9548.1	14q11.2	2013-01-10			ENSG00000129566	ENSG00000129566		"WD repeat domain containing"	11726	protein-coding gene	gene with protein product	"TROVE domain family, member 1"	601686				9403057	Standard	NM_007110		Approved	TP1, TLP1, VAULT2, p240, TROVE1	uc001vxe.3	Q99973	OTTHUMG00000029515	ENST00000262715.5:c.5684C>T	14.37:g.20846220G>A	ENSP00000262715:p.Ala1895Val					TEP1_ENST00000556935.1_Missense_Mutation_p.A1787V|TEP1_ENST00000545983.1_Missense_Mutation_p.A233V	p.A1895V	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)	39	5724	-	all_cancers(95;0.00123)	all_lung(585;0.235)	1895					A0AUV9	Missense_Mutation	SNP	ENST00000262715.5	37	c.5684C>T	CCDS9548.1	.	.	.	.	.	.	.	.	.	.	G	11.58	1.682249	0.29872	.	.	ENSG00000129566	ENST00000262715;ENST00000359243;ENST00000556935;ENST00000545983	T;T;T	0.51071	0.72;1.6;1.6	5.48	2.64	0.31445	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.670270	0.15490	N	0.259618	T	0.45677	0.1354	L	0.54323	1.7	0.09310	N	1	P;P;D;P	0.56035	0.753;0.89;0.974;0.91	B;B;P;B	0.47251	0.27;0.299;0.542;0.424	T	0.29971	-0.9994	10	0.49607	T	0.09	-2.5231	7.6231	0.28197	0.0766:0.0:0.6329:0.2906	.	233;1787;1238;1895	B4E0B6;G3V5X7;G3V2A4;Q99973	.;.;.;TEP1_HUMAN	V	1895;1895;1787;233	ENSP00000262715:A1895V;ENSP00000452574:A1787V;ENSP00000438849:A233V	ENSP00000262715:A1895V	A	-	2	0	TEP1	19916060	0.004000	0.15560	0.001000	0.08648	0.103000	0.19146	1.316000	0.33620	0.279000	0.22186	-1.214000	0.01621	GCG		0.592	TEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073563.2	NM_007110		3	82	0	0	0	1	0	3	82					A	20846220	G	A	20846220	3	1	43	1	0	0	0	0	1	0	0	0	15756	1087	38	1	2267	1	TEP1	14	20846220	Missense_Mutation	SNP	G	TCGA-CH-5794-01A-11D-1576-08		20846220	86503320	34	2322											
NOVA1	4857	broad.mit.edu	37	chr14	26917506	26917506	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agctccaaaatatccattggTtgcagcagtagcagcagcca	13	8	9	11	0	0	0	0	0	0	0	2	0	2	0	3	1	6	7	3	1	4	4			TCGA-CH-5794-01A-11D-1576-08	TCGA-CH-5794-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c91139ac-56d3-49cd-852b-9732dfb3e77e	f61e6c4e-baf6-48ca-aecd-0e3ca77aeeb0	g.chr14:26917506T>A	ENST00000539517.2	-	5	1500	c.1183A>T	c.(1183-1185)Acc>Tcc	p.T395S	NOVA1_ENST00000465357.2_Missense_Mutation_p.T371S|NOVA1_ENST00000267422.7_Missense_Mutation_p.T273S	NM_002515.2	NP_002506.2	P51513	NOVA1_HUMAN	neuro-oncological ventral antigen 1	398	Ala-rich.				locomotory behavior (GO:0007626)|mRNA splicing, via spliceosome (GO:0000398)|regulation of RNA metabolic process (GO:0051252)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|synaptic transmission (GO:0007268)	intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|nucleus (GO:0005634)	mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.T395S(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40				GBM - Glioblastoma multiforme(265;0.0135)		TATCCATTGGTTGCAGCAGTA	0.522																																						ENST00000539517.2																			1	Substitution - Missense(1)	p.T395S(1)	prostate(1)	breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40						c.(1183-1185)Acc>Tcc		neuro-oncological ventral antigen 1							43	45	45					14																	26917506		2203	4300	6503	SO:0001583	missense	4857				locomotory behavior|RNA splicing|synaptic transmission	nucleus	RNA binding	g.chr14:26917506T>A	U04840	CCDS9635.1, CCDS32060.1, CCDS32061.1	14q12	2006-06-09			ENSG00000139910	ENSG00000139910			7886	protein-coding gene	gene with protein product		602157				8558240	Standard	NM_006489		Approved		uc001wpy.3	P51513	OTTHUMG00000029385	ENST00000539517.2:c.1183A>T	14.37:g.26917506T>A	ENSP00000438875:p.Thr395Ser					NOVA1_ENST00000465357.2_Missense_Mutation_p.T371S|NOVA1_ENST00000267422.7_Missense_Mutation_p.T273S	p.T395S	NM_002515.2	NP_002506.2	P51513	NOVA1_HUMAN		GBM - Glioblastoma multiforme(265;0.0135)	5	1500	-			398			Ala-rich.		A8K0S4|A8K4Q7|D3DS81|D3DS82|Q6B004	Missense_Mutation	SNP	ENST00000539517.2	37	c.1183A>T	CCDS32061.1	.	.	.	.	.	.	.	.	.	.	T	0.611	-0.824977	0.02755	.	.	ENSG00000139910	ENST00000465357;ENST00000539517;ENST00000267422	T;T;T	0.30714	1.56;1.52;1.55	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	T	0.22898	0.0553	N	0.22421	0.69	0.47698	D	0.999495	B;B;B	0.15930	0.003;0.005;0.015	B;B;B	0.16289	0.004;0.005;0.015	T	0.06338	-1.0832	10	0.19147	T	0.46	0.0138	16.3593	0.83251	0.0:0.0:0.0:1.0	.	398;371;395	P51513;D3DS81;P51513-4	NOVA1_HUMAN;.;.	S	371;395;273	ENSP00000447391:T371S;ENSP00000438875:T395S;ENSP00000267422:T273S	ENSP00000267422:T273S	T	-	1	0	NOVA1	25987346	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.196000	0.58407	2.267000	0.75376	0.383000	0.25322	ACC		0.522	NOVA1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000073261.3	NM_006491		13	36	0	0	0	1	0	13	36					A	26917506	T	A	26917506	3	1	43	1	0	0	0	0	1	0	0	0	10554	1725	60	5	344	5	NOVA1	14	26917506	Missense_Mutation	SNP	T	TCGA-CH-5794-01A-11D-1576-08	6071286	26917506	80432034	35	2323											
DDHD1	80821	broad.mit.edu	37	chr14	53521264	53521264	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcttccattgagtcttttgAtgtttcagatgactgtgttg	7	19	9	6	0	3	4	1	3	2	1	4	4	4	4	1	0	0	2	1	0	0	6			TCGA-CH-5794-01A-11D-1576-08	TCGA-CH-5794-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c91139ac-56d3-49cd-852b-9732dfb3e77e	f61e6c4e-baf6-48ca-aecd-0e3ca77aeeb0	g.chr14:53521264A>G	ENST00000323669.5	-	11	2328	c.2329T>C	c.(2329-2331)Tca>Cca	p.S777P	DDHD1_ENST00000357758.3_Missense_Mutation_p.S777P|DDHD1_ENST00000395606.1_Missense_Mutation_p.S784P|DDHD1_ENST00000555621.1_5'Flank	NM_001160148.1	NP_001153620.1	Q8NEL9	DDHD1_HUMAN	DDHD domain containing 1	777	DDHD. {ECO:0000255|PROSITE- ProRule:PRU00378}.				cell death (GO:0008219)|lipid catabolic process (GO:0016042)	cytoplasm (GO:0005737)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)	25	Breast(41;0.037)					GAGTCTTTTGATGTTTCAGAT	0.468																																						ENST00000357758.3																			0				breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)	25						c.(2329-2331)Tca>Cca		DDHD domain containing 1							232	169	191					14																	53521264		2203	4300	6503	SO:0001583	missense	0				lipid catabolic process	cytoplasm	hydrolase activity|metal ion binding	g.chr14:53521264A>G	AB051492	CCDS9714.1, CCDS53895.1, CCDS53896.1	14q21	2012-11-23			ENSG00000100523	ENSG00000100523			19714	protein-coding gene	gene with protein product	"phosphatidic acid-preferring phospholipase A1"	614603	"spastic paraplegia 28 (autosomal recessive)"	SPG28		11214970, 20359546	Standard	NM_030637		Approved	KIAA1705, PA-PLA1	uc001xai.3	Q8NEL9	OTTHUMG00000140305	ENST00000323669.5:c.2329T>C	14.37:g.53521264A>G	ENSP00000327104:p.Ser777Pro					DDHD1_ENST00000323669.5_Missense_Mutation_p.S777P|DDHD1_ENST00000395606.1_Missense_Mutation_p.S784P	p.S777P	NM_030637.2	NP_085140.2	Q8NEL9	DDHD1_HUMAN			11	2512	-	Breast(41;0.037)		777			DDHD.		G5E9D1|Q8WVH3|Q96LL2|Q9C0F8	Missense_Mutation	SNP	ENST00000323669.5	37	c.2329T>C	CCDS53895.1	.	.	.	.	.	.	.	.	.	.	A	9.829	1.187772	0.21954	.	.	ENSG00000100523	ENST00000323669;ENST00000395606;ENST00000357758;ENST00000395610	.	.	.	5.71	0.184	0.15086	DDHD (2);	0.996321	0.08139	N	0.991939	T	0.29749	0.0743	N	0.14661	0.345	0.29776	N	0.834375	B;B;P;P	0.45078	0.0;0.004;0.85;0.813	B;B;P;B	0.48089	0.0;0.006;0.566;0.353	T	0.39143	-0.9628	9	0.45353	T	0.12	-1.9248	10.7123	0.45990	0.4227:0.5099:0.0675:0.0	.	173;784;777;777	Q2VYF2;G5E9D1;Q8NEL9;Q8NEL9-2	.;.;DDHD1_HUMAN;.	P	777;784;777;648	.	ENSP00000327104:S777P	S	-	1	0	DDHD1	52591014	0.004000	0.15560	0.714000	0.30535	0.316000	0.28119	0.172000	0.16704	0.069000	0.16605	0.528000	0.53228	TCA		0.468	DDHD1-003	KNOWN	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000276901.1			4	176	0	0	0	1	0	4	176					G	53521264	A	G	53521264	3	3	43	1	0	0	0	0	1	0	0	0	4326	333	12	4	385	4	DDHD1	14	53521264	Missense_Mutation	SNP	A	TCGA-CH-5794-01A-11D-1576-08	26603758	53521264	53828276	36	2324											
PCNX	22990	broad.mit.edu	37	chr14	71485847	71485847	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggtcttccagttctgcctcGtcatagccagctgtcaatac	7	12	9	13	1	4	0	2	0	2	0	6	0	5	0	3	1	4	2	3	1	3	4			TCGA-CH-5794-01A-11D-1576-08	TCGA-CH-5794-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c91139ac-56d3-49cd-852b-9732dfb3e77e	f61e6c4e-baf6-48ca-aecd-0e3ca77aeeb0	g.chr14:71485847G>A	ENST00000304743.2	+	12	3564	c.3118G>A	c.(3118-3120)Gtc>Atc	p.V1040I	PCNX_ENST00000439984.3_Missense_Mutation_p.V929I|PCNX_ENST00000238570.5_Missense_Mutation_p.V1040I	NM_014982.2	NP_055797.2	Q96RV3	PCX1_HUMAN	pecanex homolog (Drosophila)	1040						integral component of membrane (GO:0016021)		p.V1040I(1)		NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1)	87			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)		GTTCTGCCTCGTCATAGCCAG	0.423																																						ENST00000304743.2																			1	Substitution - Missense(1)	p.V1040I(1)	prostate(1)	NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1)	87						c.(3118-3120)Gtc>Atc		pecanex homolog (Drosophila)							164	150	155					14																	71485847		2203	4300	6503	SO:0001583	missense	22990					integral to membrane		g.chr14:71485847G>A	AF233450, AB018348	CCDS9806.1	14q24.2	2014-07-03							19740	protein-coding gene	gene with protein product			"pecanex-like 1 (Drosophila)"	PCNXL1		9244429, 15777640	Standard	NM_014982		Approved	KIAA0995, KIAA0805, pecanex	uc001xmo.2	Q96RV3		ENST00000304743.2:c.3118G>A	14.37:g.71485847G>A	ENSP00000304192:p.Val1040Ile					PCNX_ENST00000238570.5_Missense_Mutation_p.V1040I|PCNX_ENST00000439984.3_Missense_Mutation_p.V929I	p.V1040I	NM_014982.2	NP_055797.2	Q96RV3	PCX1_HUMAN	KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)	12	3564	+			1040					B2RTR6|O94897|Q96AI7|Q9Y2J9	Missense_Mutation	SNP	ENST00000304743.2	37	c.3118G>A	CCDS9806.1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.350246	0.82132	.	.	ENSG00000100731	ENST00000304743;ENST00000238570;ENST00000439984	T;T;T	0.70399	-0.48;-0.48;-0.48	5.55	5.55	0.83447	.	0.118823	0.56097	D	0.000028	T	0.81683	0.4874	L	0.55481	1.735	0.80722	D	1	D;D	0.76494	0.971;0.999	B;D	0.71184	0.391;0.972	T	0.80917	-0.1168	10	0.48119	T	0.1	.	19.5026	0.95103	0.0:0.0:1.0:0.0	.	929;1040	B2RTR6;Q96RV3	.;PCX1_HUMAN	I	1040;1040;929	ENSP00000304192:V1040I;ENSP00000238570:V1040I;ENSP00000396617:V929I	ENSP00000238570:V1040I	V	+	1	0	PCNX	70555600	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	9.658000	0.98594	2.612000	0.88384	0.655000	0.94253	GTC		0.423	PCNX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412479.1	NM_014982		98	210	0	0	0	1	0	98	210					A	71485847	G	A	71485847	3	1	43	1	0	0	0	0	1	0	0	0	11591	1145	40	1	3164	1	PCNX	14	71485847	Missense_Mutation	SNP	G	TCGA-CH-5794-01A-11D-1576-08	17964583	71485847	35863693	37	2325											
XAB2	56949	broad.mit.edu	37	chr19	7691147	7691147	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatgtactcctctgcactctCaggactcagctggggaccga	9	9	10	13	1	3	0	2	0	2	0	5	3	4	2	2	3	3	3	2	3	2	1			TCGA-CH-5794-01A-11D-1576-08	TCGA-CH-5794-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c91139ac-56d3-49cd-852b-9732dfb3e77e	f61e6c4e-baf6-48ca-aecd-0e3ca77aeeb0	g.chr19:7691147C>A	ENST00000358368.4	-	5	569	c.532G>T	c.(532-534)Gag>Tag	p.E178*	XAB2_ENST00000534844.1_Nonsense_Mutation_p.E175*	NM_020196.2	NP_064581.2	Q9HCS7	SYF1_HUMAN	XPA binding protein 2	178					blastocyst development (GO:0001824)|DNA repair (GO:0006281)|mRNA splicing, via spliceosome (GO:0000398)|nucleotide-excision repair (GO:0006289)|transcription, DNA-templated (GO:0006351)|transcription-coupled nucleotide-excision repair (GO:0006283)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				breast(1)|central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	26						TCTGCACTCTCAGGACTCAGC	0.657								Direct reversal of damage;Nucleotide excision repair (NER)																														ENST00000358368.4																			0				breast(1)|central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	26						c.(532-534)Gag>Tag	Direct reversal of damage;Nucleotide excision repair (NER)	XPA binding protein 2							103	110	107					19																	7691147		2203	4300	6503	SO:0001587	stop_gained	56949				transcription, DNA-dependent|transcription-coupled nucleotide-excision repair	catalytic step 2 spliceosome|nucleoplasm	protein binding	g.chr19:7691147C>A	AB026111	CCDS32892.1	19p13.3	2013-08-21				ENSG00000076924			14089	protein-coding gene	gene with protein product	"SYF1 homolog, RNA splicing factor (S. cerevisiae)", "SYF1 pre-mRNA-splicing factor"	610850				10944529	Standard	NM_020196		Approved	HCNP, HCRN, SYF1, NTC90	uc002mgx.3	Q9HCS7		ENST00000358368.4:c.532G>T	19.37:g.7691147C>A	ENSP00000351137:p.Glu178*					XAB2_ENST00000534844.1_Nonsense_Mutation_p.E175*	p.E178*	NM_020196.2	NP_064581.2	Q9HCS7	SYF1_HUMAN			5	569	-			178					Q8TET6|Q96HB0|Q96IW0|Q9NRG6|Q9ULP3	Nonsense_Mutation	SNP	ENST00000358368.4	37	c.532G>T	CCDS32892.1	.	.	.	.	.	.	.	.	.	.	C	17.48	3.400407	0.62177	.	.	ENSG00000076924	ENST00000358368;ENST00000534844	.	.	.	4.83	3.78	0.43462	.	0.070077	0.56097	D	0.000036	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.40728	T	0.16	-23.9177	7.1675	0.25700	0.172:0.7405:0.0:0.0875	.	.	.	.	X	178;175	.	ENSP00000351137:E178X	E	-	1	0	XAB2	7597147	1.000000	0.71417	0.870000	0.34147	0.020000	0.10135	5.546000	0.67243	1.013000	0.39391	-0.314000	0.08810	GAG		0.657	XAB2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000461021.1	NM_020196		4	211	1	0	1	1	1	4	211					A	7691147	C	A	7691147	4	1	43	1	0	0	0	0	0	1	0	0	17415	835	29	5	2095	5	XAB2	19	7691147	Nonsense_Mutation	SNP	C	TCGA-CH-5794-01A-11D-1576-08		7691147	51437836	38	2326											
OLFM2	93145	broad.mit.edu	37	chr19	9965490	9965490	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgatgaagtctcccagggtaCggaactccaggacccggcgg	9	6	14	12	3	1	2	0	2	1	0	3	4	2	4	3	5	2	1	3	5	3	1			TCGA-CH-5794-01A-11D-1576-08	TCGA-CH-5794-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c91139ac-56d3-49cd-852b-9732dfb3e77e	f61e6c4e-baf6-48ca-aecd-0e3ca77aeeb0	g.chr19:9965490C>T	ENST00000264833.4	-	6	922	c.737G>A	c.(736-738)cGt>cAt	p.R246H	OLFM2_ENST00000590841.1_Missense_Mutation_p.R168H	NM_058164.2	NP_477512.1	O95897	NOE2_HUMAN	olfactomedin 2	246	Olfactomedin-like. {ECO:0000255|PROSITE- ProRule:PRU00446}.				protein secretion (GO:0009306)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|extracellular region (GO:0005576)|synapse (GO:0045202)		p.R246H(1)		breast(1)|cervix(1)|endometrium(3)|large_intestine(8)|lung(9)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	31						TCCCAGGGTACGGAACTCCAG	0.612																																						ENST00000264833.4																			1	Substitution - Missense(1)	p.R246H(1)	prostate(1)	breast(1)|cervix(1)|endometrium(3)|large_intestine(8)|lung(9)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	31						c.(736-738)cGt>cAt		olfactomedin 2							32	34	33					19																	9965490		2203	4300	6503	SO:0001583	missense	93145					extracellular region		g.chr19:9965490C>T	AF131839	CCDS12221.1	19p13.2	2008-07-03				ENSG00000105088			17189	protein-coding gene	gene with protein product	"noelin 2"						Standard	NM_058164		Approved	OlfC, NOE2	uc002mmp.3	O95897		ENST00000264833.4:c.737G>A	19.37:g.9965490C>T	ENSP00000264833:p.Arg246His					OLFM2_ENST00000590841.1_Missense_Mutation_p.R168H	p.R246H	NM_058164.2	NP_477512.1	O95897	NOE2_HUMAN			6	922	-			246			Olfactomedin-like.		Q6IMJ3|Q96FC2	Missense_Mutation	SNP	ENST00000264833.4	37	c.737G>A	CCDS12221.1	.	.	.	.	.	.	.	.	.	.	C	19.52	3.843936	0.71488	.	.	ENSG00000105088	ENST00000264833	D	0.89681	-2.55	4.45	4.45	0.53987	Olfactomedin-like (3);	0.000000	0.85682	D	0.000000	D	0.92080	0.7490	M	0.76170	2.325	0.46298	D	0.998974	D	0.69078	0.997	D	0.64144	0.922	D	0.91478	0.5202	9	.	.	.	.	8.2584	0.31771	0.0:0.8945:0.0:0.1055	.	246	O95897	NOE2_HUMAN	H	246	ENSP00000264833:R246H	.	R	-	2	0	OLFM2	9826490	0.917000	0.31117	1.000000	0.80357	0.995000	0.86356	1.907000	0.39897	2.291000	0.77112	0.561000	0.74099	CGT		0.612	OLFM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451119.1			6	23	0	0	0	1	0	6	23					T	9965490	C	T	9965490	3	4	43	1	0	0	0	0	1	0	0	0	10853	536	19	1	631	1	OLFM2	19	9965490	Missense_Mutation	SNP	C	TCGA-CH-5794-01A-11D-1576-08	2274343	9965490	49163493	39	2327											
SUPT5H	6829	broad.mit.edu	37	chr19	39965235	39965235	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtggctacaacccacacacGccaggctcaggcatcgagca	11	4	11	15	2	1	0	1	0	0	0	2	1	1	0	2	4	3	4	2	4	2	1	rs138311423		TCGA-CH-5794-01A-11D-1576-08	TCGA-CH-5794-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c91139ac-56d3-49cd-852b-9732dfb3e77e	f61e6c4e-baf6-48ca-aecd-0e3ca77aeeb0	g.chr19:39965235G>T	ENST00000599117.1	+	29	3268	c.2901G>T	c.(2899-2901)acG>acT	p.T967T	SUPT5H_ENST00000402194.2_Silent_p.T963T|SUPT5H_ENST00000432763.2_Silent_p.T967T|SUPT5H_ENST00000598725.1_Silent_p.T967T|SUPT5H_ENST00000359191.6_Silent_p.T963T			O00267	SPT5H_HUMAN	suppressor of Ty 5 homolog (S. cerevisiae)	967	Pro-rich.				7-methylguanosine mRNA capping (GO:0006370)|cell cycle (GO:0007049)|chromatin remodeling (GO:0006338)|DNA-templated transcription, elongation (GO:0006354)|gene expression (GO:0010467)|negative regulation of DNA-templated transcription, elongation (GO:0032785)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|positive regulation of macroautophagy (GO:0016239)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of viral transcription (GO:0050434)|response to organic substance (GO:0010033)|single stranded viral RNA replication via double stranded DNA intermediate (GO:0039692)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	DSIF complex (GO:0032044)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|poly(A) RNA binding (GO:0044822)|protein heterodimerization activity (GO:0046982)	p.T967T(1)		breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(13)|lung(12)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	51	all_cancers(60;6.69e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;1.57e-06)|Ovarian(47;0.159)		Epithelial(26;3.9e-26)|all cancers(26;1.35e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			ACCCACACACGCCAGGCTCAG	0.607											OREG0025462	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000599117.1																			1	Substitution - coding silent(1)	p.T967T(1)	prostate(1)	breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(13)|lung(12)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	51						c.(2899-2901)acG>acT		suppressor of Ty 5 homolog (S. cerevisiae)							75	65	68					19																	39965235		2203	4300	6503	SO:0001819	synonymous_variant	6829				cell cycle|chromatin remodeling|mRNA capping|negative regulation of transcription elongation, DNA-dependent|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription elongation from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|response to organic substance|retroviral genome replication|transcription elongation from RNA polymerase II promoter	nucleoplasm	enzyme binding|protein heterodimerization activity	g.chr19:39965235G>T	U56402	CCDS12536.1, CCDS46072.1	19q13	2008-07-22	2001-11-28			ENSG00000196235			11469	protein-coding gene	gene with protein product		602102	"suppressor of Ty (S.cerevisiae) 5 homolog"			8975720	Standard	NM_003169		Approved	SPT5H, SPT5, FLJ34157	uc002olp.4	O00267		ENST00000599117.1:c.2901G>T	19.37:g.39965235G>T			OREG0025462	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	889	SUPT5H_ENST00000432763.2_Silent_p.T967T|SUPT5H_ENST00000598725.1_Silent_p.T967T|SUPT5H_ENST00000359191.6_Silent_p.T963T|SUPT5H_ENST00000402194.2_Silent_p.T963T	p.T967T			O00267	SPT5H_HUMAN	Epithelial(26;3.9e-26)|all cancers(26;1.35e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)		29	3268	+	all_cancers(60;6.69e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;1.57e-06)|Ovarian(47;0.159)		967			Pro-rich.		O43279|Q59G52|Q99639	Silent	SNP	ENST00000599117.1	37	c.2901G>T	CCDS12536.1																																																																																				0.607	SUPT5H-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000464918.1	NM_003169		4	61	1	0	0.000602214	1	0.000621034	4	61					T	39965235	G	T	39965235	2	4	43	1	0	0	0	0	0	0	0	1	15396	1074	38	5		5	SUPT5H	19	39965235	Silent	SNP	G	TCGA-CH-5794-01A-11D-1576-08	29999745	39965235	19163748	40	2328											
LMTK3	114783	broad.mit.edu	37	chr19	49002387	49002389	+	In_Frame_Del	DEL	CCT	CCT	-																															gtcttcccctggggagctgcCctcctcctcctcctcttctt																										TCGA-CH-5794-01A-11D-1576-08	TCGA-CH-5794-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c91139ac-56d3-49cd-852b-9732dfb3e77e	f61e6c4e-baf6-48ca-aecd-0e3ca77aeeb0	g.chr19:49002387_49002389delCCT	ENST00000600059.1	-	11	2164_2166	c.1937_1939delAGG	c.(1936-1941)gagggc>ggc	p.E646del	LMTK3_ENST00000270238.3_In_Frame_Del_p.E675del			Q96Q04	LMTK3_HUMAN	lemur tyrosine kinase 3	646	Pro-rich.				negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(9)|prostate(1)	16		all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000114)|all cancers(93;0.000141)|Epithelial(262;0.00854)|GBM - Glioblastoma multiforme(486;0.0231)		GGGGAGCTGCCCTCCTCCTCCTC	0.739																																						ENST00000600059.1																			0				breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(9)|prostate(1)	16						c.(1936-1941)ggc>g		lemur tyrosine kinase 3				23,2745		1,21,1362						-1.2	1			4	63,6327		10,43,3142	no	coding	LMTK3	NM_001080434.1		11,64,4504	A1A1,A1R,RR		0.9859,0.8309,0.9391				86,9072				SO:0001651	inframe_deletion	114783							g.chr19:49002387_49002389delCCT	AB067470	CCDS46136.1	19q13.33	2014-06-12				ENSG00000142235			19295	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 101"						Standard	NM_001080434		Approved	KIAA1883, LMR3, TYKLM3, PPP1R101	uc002pjk.3	Q96Q04		ENST00000600059.1:c.1937_1939delAGG	19.37:g.49002396_49002398delCCT	ENSP00000472020:p.Glu646del					LMTK3_ENST00000270238.3_In_Frame_Del_p.EG675del	p.EG646del						OV - Ovarian serous cystadenocarcinoma(262;0.000114)|all cancers(93;0.000141)|Epithelial(262;0.00854)|GBM - Glioblastoma multiforme(486;0.0231)	11	2164_2166	-		all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113)						Q4G0U1	In_Frame_Del	DEL	ENST00000600059.1	37	c.1937_1939delAGG																																																																																					0.739	LMTK3-002	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000466137.1	NM_052895		2	4						2	4	---	---	---	---	-	49002389	CCT	-	49002387	7	5	43	1	0	1	0	1	0	0	0	0	8860	623	22	0	2463	0	LMTK3	19	49002387	In_Frame_Del	DEL	CCT	TCGA-CH-5794-01A-11D-1576-08	9037152	49002387	10126596	41	2329											
ZNF528	84436	broad.mit.edu	37	chr19	52919410	52919410	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaactcatactgatgagaaGccttacaaatgtaataaatg	19	10	6	6	0	1	2	1	2	0	1	1	3	1	2	1	0	4	1	1	0	9	4			TCGA-CH-5794-01A-11D-1576-08	TCGA-CH-5794-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c91139ac-56d3-49cd-852b-9732dfb3e77e	f61e6c4e-baf6-48ca-aecd-0e3ca77aeeb0	g.chr19:52919410G>T	ENST00000360465.3	+	7	1731	c.1305G>T	c.(1303-1305)aaG>aaT	p.K435N	ZNF528_ENST00000391788.2_3'UTR	NM_032423.2	NP_115799.2	Q3MIS6	ZN528_HUMAN	zinc finger protein 528	435					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.K435N(1)		breast(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(6)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	39				GBM - Glioblastoma multiforme(134;0.00249)|OV - Ovarian serous cystadenocarcinoma(262;0.00817)		CTGATGAGAAGCCTTACAAAT	0.383																																						ENST00000360465.3																			1	Substitution - Missense(1)	p.K435N(1)	prostate(1)	breast(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(6)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	39						c.(1303-1305)aaG>aaT		zinc finger protein 528							76	78	77					19																	52919410		2203	4300	6503	SO:0001583	missense	84436				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52919410G>T	AB058730	CCDS33091.1	19q13	2013-01-08			ENSG00000167555	ENSG00000167555		"Zinc fingers, C2H2-type", "-"	29384	protein-coding gene	gene with protein product		615580				11347906	Standard	NM_032423		Approved	KIAA1827	uc002pzh.3	Q3MIS6	OTTHUMG00000156494	ENST00000360465.3:c.1305G>T	19.37:g.52919410G>T	ENSP00000353652:p.Lys435Asn					ZNF528_ENST00000391788.2_3'UTR	p.K435N	NM_032423.2	NP_115799.2	Q3MIS6	ZN528_HUMAN		GBM - Glioblastoma multiforme(134;0.00249)|OV - Ovarian serous cystadenocarcinoma(262;0.00817)	7	1731	+			435					B3KPN4|Q86T88|Q96JK0	Missense_Mutation	SNP	ENST00000360465.3	37	c.1305G>T	CCDS33091.1	.	.	.	.	.	.	.	.	.	.	G	7.870	0.727840	0.15507	.	.	ENSG00000167555	ENST00000360465	T	0.26067	1.76	1.97	-0.596	0.11657	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.38453	0.1041	M	0.75085	2.285	0.23589	N	0.997346	D	0.67145	0.996	P	0.60415	0.874	T	0.24512	-1.0158	9	0.87932	D	0	.	2.356	0.04295	0.3172:0.0:0.2811:0.4017	.	435	Q3MIS6	ZN528_HUMAN	N	435	ENSP00000353652:K435N	ENSP00000353652:K435N	K	+	3	2	ZNF528	57611222	0.129000	0.22400	0.055000	0.19348	0.028000	0.11728	-0.002000	0.12924	-0.419000	0.07439	-1.147000	0.01851	AAG		0.383	ZNF528-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344336.1	NM_032423		37	114	1	0	1.07637e-12	1	1.16459e-12	37	114					T	52919410	G	T	52919410	3	4	43	1	0	0	0	0	1	0	0	0	17966	962	34	5	1319	5	ZNF528	19	52919410	Missense_Mutation	SNP	G	TCGA-CH-5794-01A-11D-1576-08	3917023	52919410	6209573	42	2330											
NKX2-4	644524	broad.mit.edu	37	chr20	21377696	21377697	+	Frame_Shift_Ins	INS	-	-	C																															gctcgcccatgttgcccaggINSccgccgttgcagtagctgcc																										TCGA-CH-5794-01A-11D-1576-08	TCGA-CH-5794-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c91139ac-56d3-49cd-852b-9732dfb3e77e	f61e6c4e-baf6-48ca-aecd-0e3ca77aeeb0	g.chr20:21377696_21377697insC	ENST00000351817.4	-	1	969_970	c.341_342insG	c.(340-342)ggcfs	p.G114fs	RP11-227D2.3_ENST00000419666.2_RNA|RP11-227D2.3_ENST00000552439.1_RNA	NM_033176.1	NP_149416.1	Q9H2Z4	NKX24_HUMAN	NK2 homeobox 4	114					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			lung(2)|upper_aerodigestive_tract(1)	3						TGTTGCCCAGGCCGCCGTTGCA	0.752																																						ENST00000351817.4																			0				lung(2)|upper_aerodigestive_tract(1)	3						c.(340-342)gctfs		NK2 homeobox 4																																				SO:0001589	frameshift_variant	644524				multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr20:21377696_21377697insC		CCDS42855.1	20p11.22	2012-03-09	2007-07-09	2002-10-04	ENSG00000125816	ENSG00000125816		"Homeoboxes / ANTP class : NKL subclass"	7837	protein-coding gene	gene with protein product		607808	"NK-2 (Drosophila) homolog D", "NK2 transcription factor related, locus 4 (Drosophila)"	NKX2D		1346742, 10818213	Standard	NM_033176		Approved	NKX2.4	uc010gcz.3	Q9H2Z4	OTTHUMG00000032022	ENST00000351817.4:c.342dupG	20.37:g.21377698_21377698dupC	ENSP00000345147:p.Gly114fs						p.A114fs	NM_033176.1	NP_149416.1	Q9H2Z4	NKX24_HUMAN			1	969_970	-			114					Q5VZV8	Frame_Shift_Ins	INS	ENST00000351817.4	37	c.341_342insG	CCDS42855.1																																																																																				0.752	NKX2-4-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078270.2			2	4						2	4	---	---	---	---	C	21377697	-	C	21377696	7	5	43	1	0	1	1	0	0	0	0	0	10452	1190	42	0	730	0	NKX2-4	20	21377696	Frame_Shift_Ins	INS	-	TCGA-CH-5794-01A-11D-1576-08		21377696	41647824	43	2331											
NF2	4771	broad.mit.edu	37	chr22	30035110	30035110	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgatgtttcaaaggaagaacCagtcacctttcacttcttgg	11	13	8	9	0	4	2	3	1	1	1	4	3	4	3	2	2	1	1	2	2	3	4			TCGA-CH-5794-01A-11D-1576-08	TCGA-CH-5794-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c91139ac-56d3-49cd-852b-9732dfb3e77e	f61e6c4e-baf6-48ca-aecd-0e3ca77aeeb0	g.chr22:30035110C>T	ENST00000338641.4	+	3	713	c.272C>T	c.(271-273)cCa>cTa	p.P91L	NF2_ENST00000347330.5_Intron|NF2_ENST00000361166.4_Missense_Mutation_p.P91L|NF2_ENST00000403999.3_Missense_Mutation_p.P91L|NF2_ENST00000403435.1_Missense_Mutation_p.P91L|NF2_ENST00000334961.7_Intron|NF2_ENST00000361452.4_Intron|NF2_ENST00000361676.4_Missense_Mutation_p.P49L|NF2_ENST00000413209.2_Missense_Mutation_p.P91L|NF2_ENST00000397789.3_Missense_Mutation_p.P91L|NF2_ENST00000353887.4_Intron	NM_000268.3|NM_016418.5|NM_181832.2	NP_000259.1|NP_057502.2|NP_861970.1	P35240	MERL_HUMAN	neurofibromin 2 (merlin)	91	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				actin cytoskeleton organization (GO:0030036)|cell-cell junction organization (GO:0045216)|ectoderm development (GO:0007398)|hippocampus development (GO:0021766)|lens fiber cell differentiation (GO:0070306)|mesoderm formation (GO:0001707)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of DNA replication (GO:0008156)|negative regulation of JAK-STAT cascade (GO:0046426)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of tyrosine phosphorylation of Stat3 protein (GO:0042518)|negative regulation of tyrosine phosphorylation of Stat5 protein (GO:0042524)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of cell differentiation (GO:0045597)|positive regulation of stress fiber assembly (GO:0051496)|regulation of hippo signaling (GO:0035330)|regulation of neural precursor cell proliferation (GO:2000177)|regulation of protein localization to nucleus (GO:1900180)|regulation of protein stability (GO:0031647)|Schwann cell proliferation (GO:0014010)	adherens junction (GO:0005912)|apical part of cell (GO:0045177)|cleavage furrow (GO:0032154)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|early endosome (GO:0005769)|extrinsic component of membrane (GO:0019898)|filopodium (GO:0030175)|lamellipodium (GO:0030027)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ruffle (GO:0001726)		p.?(3)|p.H84_F100del(1)|p.V86_Q111>E(1)|p.P91L(1)		NS(1)|bone(2)|breast(5)|central_nervous_system(21)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(17)|large_intestine(9)|liver(1)|lung(9)|meninges(372)|ovary(2)|pituitary(1)|pleura(9)|prostate(1)|skin(7)|soft_tissue(303)|stomach(2)|thyroid(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	776						AAGGAAGAACCAGTCACCTTT	0.423			"D, Mis, N, F, S, O"		"meningioma, acoustic neuroma, renal "	"meningioma, acoustic neuroma"			Neurofibromatosis, type 2																													ENST00000338641.4			yes	Rec	yes	Neurofibromatosis type 2	22	22q12.2	4771	"D, Mis, N, F, S, O"	neurofibromatosis type 2 gene			O		"meningioma, acoustic neuroma"	"meningioma, acoustic neuroma, renal "		6	Unknown(3)|Substitution - Missense(1)|Complex - deletion inframe(1)|Deletion - In frame(1)	p.?(3)|p.H84_F100del(1)|p.V86_Q111>E(1)|p.P91L(1)	soft_tissue(2)|stomach(1)|large_intestine(1)|prostate(1)|lung(1)	NS(1)|bone(2)|breast(5)|central_nervous_system(21)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(17)|large_intestine(9)|liver(1)|lung(9)|meninges(372)|ovary(2)|pituitary(1)|pleura(9)|prostate(1)|skin(7)|soft_tissue(303)|stomach(2)|thyroid(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	776						c.(271-273)cCa>cTa		neurofibromin 2 (merlin)							139	120	126					22																	30035110		2203	4300	6503	SO:0001583	missense	4771	Neurofibromatosis, type 2	Familial Cancer Database	NF2, Central Neurofibromatosis, Bilateral Acoustic Neurofibromatosis	actin cytoskeleton organization|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of cell-cell adhesion|negative regulation of cell-matrix adhesion|negative regulation of DNA replication|negative regulation of tyrosine phosphorylation of Stat3 protein|negative regulation of tyrosine phosphorylation of Stat5 protein|positive regulation of stress fiber assembly|regulation of hippo signaling cascade|Schwann cell proliferation	cytoskeleton|early endosome|extrinsic to membrane|filopodium membrane|nucleolus|perinuclear region of cytoplasm|ruffle membrane	cytoskeletal protein binding|protein binding	g.chr22:30035110C>T	L11353	CCDS13861.1, CCDS13862.1, CCDS13863.1, CCDS13864.1, CCDS13865.1, CCDS54516.1	22q12.2	2014-09-17	2007-12-17		ENSG00000186575	ENSG00000186575		"A-kinase anchor proteins"	7773	protein-coding gene	gene with protein product	"moesin-ezrin-radixin like", "schwannomin"	607379	"neurofibromin 2 (bilateral acoustic neuroma)"			10591208	Standard	NM_000268		Approved	merlin	uc003age.4	P35240	OTTHUMG00000030727	ENST00000338641.4:c.272C>T	22.37:g.30035110C>T	ENSP00000344666:p.Pro91Leu					NF2_ENST00000413209.2_Missense_Mutation_p.P91L|NF2_ENST00000361166.4_Missense_Mutation_p.P91L|NF2_ENST00000403999.3_Missense_Mutation_p.P91L|NF2_ENST00000361676.4_Missense_Mutation_p.P49L|NF2_ENST00000347330.5_Intron|NF2_ENST00000361452.4_Intron|NF2_ENST00000353887.4_Intron|NF2_ENST00000397789.3_Missense_Mutation_p.P91L|NF2_ENST00000403435.1_Missense_Mutation_p.P91L|NF2_ENST00000334961.7_Intron	p.P91L	NM_000268.3|NM_016418.5|NM_181832.2	NP_000259.1|NP_057502.2|NP_861970.1	P35240	MERL_HUMAN			3	713	+			91			FERM.		O95683|Q8WUJ2|Q969N0|Q969Q3|Q96T30|Q96T31|Q96T32|Q96T33|Q9BTW3|Q9UNG9|Q9UNH3|Q9UNH4	Missense_Mutation	SNP	ENST00000338641.4	37	c.272C>T	CCDS13861.1	.	.	.	.	.	.	.	.	.	.	C	29.4	5.001424	0.93227	.	.	ENSG00000186575	ENST00000413209;ENST00000338641;ENST00000403435;ENST00000397822;ENST00000403999;ENST00000397789;ENST00000361676;ENST00000361166	T;T;T;T;T;D;T	0.86297	-1.19;-1.19;-1.19;-1.19;-1.19;-2.1;-1.19	6.17	6.17	0.99709	FERM, N-terminal (1);Band 4.1 domain (1);FERM domain (1);FERM conserved site (1);	0.049427	0.85682	D	0.000000	D	0.91043	0.7182	M	0.86028	2.79	0.80722	D	1	B;B;B;P;P	0.51933	0.044;0.139;0.193;0.872;0.949	B;B;B;B;P	0.46076	0.054;0.186;0.114;0.231;0.503	D	0.90860	0.4738	9	.	.	.	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	91;91;91;49;91	P35240-9;P35240;P35240-2;P35240-6;P35240-3	.;MERL_HUMAN;.;.;.	L	91;91;91;91;91;91;49;91	ENSP00000409921:P91L;ENSP00000344666:P91L;ENSP00000384029:P91L;ENSP00000384797:P91L;ENSP00000380891:P91L;ENSP00000355183:P49L;ENSP00000354529:P91L	.	P	+	2	0	NF2	28365110	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.963000	0.70372	2.941000	0.99782	0.655000	0.94253	CCA		0.423	NF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075615.3	NM_000268		35	88	0	0	0	1	0	35	88					T	30035110	C	T	30035110	3	4	43	1	0	0	0	0	1	0	0	0	10357	594	21	3	282	3	NF2	22	30035110	Missense_Mutation	SNP	C	TCGA-CH-5794-01A-11D-1576-08		30035110	21269456	44	2332											
C22orf28	51493	broad.mit.edu	37	chr22	32794016	32794016	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgatgcccatttttttagcAgcatactcattgaaaatctc	11	15	5	10	1	2	1	1	1	1	0	4	2	2	1	1	0	4	2	1	0	4	6			TCGA-CH-5794-01A-11D-1576-08	TCGA-CH-5794-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c91139ac-56d3-49cd-852b-9732dfb3e77e	f61e6c4e-baf6-48ca-aecd-0e3ca77aeeb0	g.chr22:32794016A>G	ENST00000216038.5	-	7	824	c.726T>C	c.(724-726)gcT>gcC	p.A242A	RTCB_ENST00000451746.2_Intron|RTCB_ENST00000476619.1_5'Flank	NM_014306.4	NP_055121.1			RNA 2',3'-cyclic phosphate and 5'-OH ligase									p.A242A(1)									TTTTTTTAGCAGCATACTCAT	0.458																																						ENST00000216038.5																			1	Substitution - coding silent(1)	p.A242A(1)	prostate(1)								c.(724-726)gcT>gcC		RNA 2',3'-cyclic phosphate and 5'-OH ligase							181	146	158					22																	32794016		2203	4300	6503	SO:0001819	synonymous_variant	51493							g.chr22:32794016A>G	BC016707	CCDS13905.1	22q12.3	2013-05-22	2013-05-22	2013-05-22	ENSG00000100220	ENSG00000100220	6.5.1.3		26935	protein-coding gene	gene with protein product	"focal adhesion-associated protein"	613901	"chromosome 22 open reading frame 28"	C22orf28		11042152, 21209330, 21311021	Standard	NM_014306		Approved	HSPC117, FAAP		Q9Y3I0	OTTHUMG00000030300	ENST00000216038.5:c.726T>C	22.37:g.32794016A>G						RTCB_ENST00000451746.2_Intron	p.A242A	NM_014306.4	NP_055121.1					7	824	-									Silent	SNP	ENST00000216038.5	37	c.726T>C	CCDS13905.1																																																																																				0.458	RTCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075188.3	NM_014306		45	136	0	0	0	1	0	45	136					G	32794016	A	G	32794016	2	3	43	1	0	0	0	0	0	0	0	1	2140	175	7	4		4	C22orf28	22	32794016	Silent	SNP	A	TCGA-CH-5794-01A-11D-1576-08	2758906	32794016	18510550	45	2333											
XRCC6	2547	broad.mit.edu	37	chr22	42059704	42059704	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gacccacatcagcaagggtaCgctgggcaagttcactgtgc	10	7	12	12	1	2	0	2	0	0	0	2	1	2	0	1	2	3	5	1	2	3	2			TCGA-CH-5794-01A-11D-1576-08	TCGA-CH-5794-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c91139ac-56d3-49cd-852b-9732dfb3e77e	f61e6c4e-baf6-48ca-aecd-0e3ca77aeeb0	g.chr22:42059704C>T	ENST00000359308.4	+	12	2370	c.1715C>T	c.(1714-1716)aCg>aTg	p.T572M	XRCC6_ENST00000405878.1_Missense_Mutation_p.T572M|XRCC6_ENST00000428575.2_Missense_Mutation_p.T439M|XRCC6_ENST00000405506.1_Missense_Mutation_p.T522M|XRCC6_ENST00000360079.3_Missense_Mutation_p.T572M|XRCC6_ENST00000402580.3_Missense_Mutation_p.T531M			P12956	XRCC6_HUMAN	X-ray repair complementing defective repair in Chinese hamster cells 6	572	Interaction with DEAF1.				brain development (GO:0007420)|cellular hyperosmotic salinity response (GO:0071475)|cellular response to X-ray (GO:0071481)|DNA duplex unwinding (GO:0032508)|DNA ligation (GO:0006266)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|establishment of integrated proviral latency (GO:0075713)|innate immune response (GO:0045087)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|telomere maintenance (GO:0000723)|transcription, DNA-templated (GO:0006351)|V(D)J recombination (GO:0033151)|viral process (GO:0016032)	cytosol (GO:0005829)|Ku70:Ku80 complex (GO:0043564)|membrane (GO:0016020)|nonhomologous end joining complex (GO:0070419)|nuclear telomere cap complex (GO:0000783)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	5'-deoxyribose-5-phosphate lyase activity (GO:0051575)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)|telomeric DNA binding (GO:0042162)|transcription regulatory region DNA binding (GO:0044212)	p.T572M(2)		central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	31						AGCAAGGGTACGCTGGGCAAG	0.562								Non-homologous end-joining																														ENST00000359308.4																			2	Substitution - Missense(2)	p.T572M(2)	prostate(2)	central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	31						c.(1714-1716)aCg>aTg	Non-homologous end-joining	X-ray repair complementing defective repair in Chinese hamster cells 6							91	86	88					22																	42059704		2203	4300	6503	SO:0001583	missense	2547				DNA ligation|double-strand break repair via nonhomologous end joining|initiation of viral infection|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|provirus integration|telomere maintenance|transcription, DNA-dependent	DNA-dependent protein kinase-DNA ligase 4 complex|Ku70:Ku80 complex|membrane fraction|nuclear telomere cap complex|transcription factor complex	5'-deoxyribose-5-phosphate lyase activity|ATP binding|ATP-dependent DNA helicase activity|double-stranded DNA binding|protein C-terminus binding|transcription regulatory region DNA binding	g.chr22:42059704C>T	J04607	CCDS14021.1, CCDS74870.1, CCDS74871.1	22q13.2	2011-09-12	2008-07-31	2005-05-06	ENSG00000196419	ENSG00000196419			4055	protein-coding gene	gene with protein product	"Ku autoantigen, 70kDa"	152690	"thyroid autoantigen 70kD (Ku antigen)", "thyroid autoantigen 70kDa (Ku antigen)"	G22P1		9200330, 9223317	Standard	NM_001469		Approved	D22S731, D22S671, KU70, ML8	uc003bao.1	P12956	OTTHUMG00000151190	ENST00000359308.4:c.1715C>T	22.37:g.42059704C>T	ENSP00000352257:p.Thr572Met					XRCC6_ENST00000405506.1_Missense_Mutation_p.T522M|XRCC6_ENST00000405878.1_Missense_Mutation_p.T572M|XRCC6_ENST00000428575.2_Missense_Mutation_p.T439M|XRCC6_ENST00000360079.3_Missense_Mutation_p.T572M|XRCC6_ENST00000402580.3_Missense_Mutation_p.T531M	p.T572M			P12956	XRCC6_HUMAN			12	2370	+			572					B1AHC8|Q6FG89|Q9UCQ2|Q9UCQ3	Missense_Mutation	SNP	ENST00000359308.4	37	c.1715C>T	CCDS14021.1	.	.	.	.	.	.	.	.	.	.	C	18.60	3.658162	0.67586	.	.	ENSG00000196419	ENST00000360079;ENST00000402580;ENST00000428575;ENST00000359308;ENST00000405878;ENST00000405506	.	.	.	5.42	4.39	0.52855	DNA-binding SAP (1);	0.043766	0.85682	D	0.000000	T	0.61565	0.2357	L	0.59436	1.845	0.80722	D	1	P;D;P	0.69078	0.702;0.997;0.702	B;P;B	0.49301	0.194;0.606;0.194	T	0.64786	-0.6325	9	0.49607	T	0.09	-9.6944	14.5463	0.68032	0.1476:0.8524:0.0:0.0	.	522;531;572	B1AHC9;B1AHC8;P12956	.;.;XRCC6_HUMAN	M	572;531;439;572;572;522	.	ENSP00000352257:T572M	T	+	2	0	XRCC6	40389650	1.000000	0.71417	0.890000	0.34922	0.669000	0.39330	7.247000	0.78257	1.257000	0.44085	0.563000	0.77884	ACG		0.562	XRCC6-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321688.1	NM_001469		33	128	0	0	0	1	0	33	128					T	42059704	C	T	42059704	3	4	43	1	0	0	0	0	1	0	0	0	17454	536	19	1	1761	1	XRCC6	22	42059704	Missense_Mutation	SNP	C	TCGA-CH-5794-01A-11D-1576-08	9265688	42059704	9244862	46	2334											
ZNF182	7569	broad.mit.edu	37	chrX	47837103	47837103	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gagcactcttggtgataattGttttcttgtcagaaaatcca	11	15	8	7	0	3	2	1	1	2	1	4	3	4	2	1	1	1	2	1	1	3	6			TCGA-CH-5794-01A-11D-1576-08	TCGA-CH-5794-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c91139ac-56d3-49cd-852b-9732dfb3e77e	f61e6c4e-baf6-48ca-aecd-0e3ca77aeeb0	g.chrX:47837103G>T	ENST00000396965.1	-	7	733	c.383C>A	c.(382-384)aCa>aAa	p.T128K	ZNF182_ENST00000305127.6_Missense_Mutation_p.T128K|ZNF182_ENST00000376943.3_Missense_Mutation_p.T109K	NM_001178099.1	NP_001171570.1	P17025	ZN182_HUMAN	zinc finger protein 182	128					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.T128K(1)		endometrium(5)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|prostate(1)	22						GGTGATAATTGTTTTCTTGTC	0.388																																						ENST00000396965.1																			1	Substitution - Missense(1)	p.T128K(1)	prostate(1)	endometrium(5)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|prostate(1)	22						c.(382-384)aCa>aAa		zinc finger protein 182							89	76	80					X																	47837103		2203	4300	6503	SO:0001583	missense	7569				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chrX:47837103G>T	AK122874, R98366	CCDS35235.1, CCDS35236.1	Xp11.23	2013-01-08	2006-05-10	2006-05-10	ENSG00000147118	ENSG00000147118		"Zinc fingers, C2H2-type", "-"	13001	protein-coding gene	gene with protein product		314993	"zinc finger protein 182 (HHZ150)", "zinc finger protein 21 (KOX 14)"	ZNF21		8088786, 2014798, 8914609	Standard	NM_001178099		Approved	KOX14, HHZ150, Zfp182	uc004dit.3	P17025	OTTHUMG00000021460	ENST00000396965.1:c.383C>A	X.37:g.47837103G>T	ENSP00000380165:p.Thr128Lys					ZNF182_ENST00000376943.3_Missense_Mutation_p.T109K|ZNF182_ENST00000305127.6_Missense_Mutation_p.T128K	p.T128K	NM_001178099.1	NP_001171570.1	P17025	ZN182_HUMAN			7	733	-			128					A2IDD7|Q3KP67|Q96QH7	Missense_Mutation	SNP	ENST00000396965.1	37	c.383C>A	CCDS35236.1	.	.	.	.	.	.	.	.	.	.	G	0.010	-1.760048	0.00657	.	.	ENSG00000147118	ENST00000376943;ENST00000396965;ENST00000305127	T;T;T	0.06933	3.24;3.24;3.24	3.95	-2.08	0.07254	.	.	.	.	.	T	0.06096	0.0158	L	0.41710	1.295	0.09310	N	1	B;B;B	0.13594	0.0;0.003;0.008	B;B;B	0.06405	0.002;0.002;0.002	T	0.40850	-0.9541	9	0.27785	T	0.31	.	5.1224	0.14867	0.4564:0.1487:0.3949:0.0	.	108;109;128	B4DRM0;Q96QH7;P17025	.;.;ZN182_HUMAN	K	109;128;128	ENSP00000366142:T109K;ENSP00000380165:T128K;ENSP00000306351:T128K	ENSP00000306351:T128K	T	-	2	0	ZNF182	47722047	0.028000	0.19301	0.000000	0.03702	0.151000	0.21798	-0.480000	0.06559	-0.547000	0.06207	0.523000	0.50628	ACA		0.388	ZNF182-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000277055.1	NM_006962		6	63	1	0	2.0095e-06	1	2.13914e-06	6	63					T	47837103	G	T	47837103	3	4	43	1	0	0	0	0	1	0	0	0	17747	1377	48	5	1540	5	ZNF182	23	47837103	Missense_Mutation	SNP	G	TCGA-CH-5794-01A-11D-1576-08		47837103	107433457	47	2335											
ASH1L	55870	broad.mit.edu	37	chr1	155448689	155448689	+	Frame_Shift_Del	DEL	A	A	-																															ggatgtgtatagaaactattAaagttgattcgaaagatagt																										TCGA-EJ-5494-01A-01D-1576-08	TCGA-EJ-5494-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c8c9d3-e3d6-45ea-b448-e1143892a190	d498facd-d3ad-4e75-87a2-bea5253d9f1f	g.chr1:155448689delA	ENST00000368346.3	-	3	4611	c.3972delT	c.(3970-3972)tttfs	p.F1324fs	ASH1L_ENST00000392403.3_Frame_Shift_Del_p.F1324fs			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	1324					cell-cell signaling (GO:0007267)|DNA packaging (GO:0006323)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|tight junction (GO:0005923)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			AGAAACTATTAAAGTTGATTC	0.408																																						ENST00000368346.3																			0				autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124						c.(3970-3972)ttfs		ash1 (absent, small, or homeotic)-like (Drosophila)							96	98	98					1																	155448689		2203	4300	6503	SO:0001589	frameshift_variant	55870				cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|Golgi apparatus|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding	g.chr1:155448689delA	AB037841	CCDS1113.2	1q22	2013-01-28			ENSG00000116539	ENSG00000116539		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	19088	protein-coding gene	gene with protein product		607999				10860993, 16545939	Standard	NM_018489		Approved	huASH1, ASH1, ASH1L1, KMT2H	uc001fkt.3	Q9NR48	OTTHUMG00000014011	ENST00000368346.3:c.3972delT	1.37:g.155448689delA	ENSP00000357330:p.Phe1324fs					ASH1L_ENST00000392403.3_Frame_Shift_Del_p.F1324fs	p.F1324fs			Q9NR48	ASH1L_HUMAN	Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)		3	4611	-	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		1324					Q59GP1|Q5T714|Q5T715|Q9P2C7	Frame_Shift_Del	DEL	ENST00000368346.3	37	c.3972delT																																																																																					0.408	ASH1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000039400.1	NM_018489		7	268						7	268	---	---	---	---	-	155448689	A	-	155448689	7	5	44	1	0	1	0	1	0	0	0	0	1041	359	13	0	5026	0	ASH1L	1	155448689	Frame_Shift_Del	DEL	A	TCGA-EJ-5494-01A-01D-1576-08		155448689	93801932	1	2336											
FCRL4	83417	broad.mit.edu	37	chr1	157551405	157551405	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctccagtggctcccgcggCgacaaggccatctctgttgc	5	8	11	17	3	1	0	0	0	1	0	4	1	3	0	4	3	1	2	4	3	1	1	rs143188744	byFrequency	TCGA-EJ-5494-01A-01D-1576-08	TCGA-EJ-5494-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c8c9d3-e3d6-45ea-b448-e1143892a190	d498facd-d3ad-4e75-87a2-bea5253d9f1f	g.chr1:157551405C>T	ENST00000271532.1	-	7	1300	c.1165G>A	c.(1165-1167)Gcc>Acc	p.A389T	FCRL4_ENST00000448509.2_5'UTR	NM_031282.2	NP_112572.1	Q96PJ5	FCRL4_HUMAN	Fc receptor-like 4	389					immune system process (GO:0002376)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.A389T(1)		breast(2)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(20)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	40	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.245)				GCTCCCGCGGCGACAAGGCCA	0.572													C|||	2	0.000399361	0.0015	0	5008	,	,		18704	0		0	False		,,,				2504	0					ENST00000271532.1																			1	Substitution - Missense(1)	p.A389T(1)	prostate(1)	breast(2)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(20)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	40						c.(1165-1167)Gcc>Acc		Fc receptor-like 4		C	THR/ALA	10,4396	16.8+/-37.8	0,10,2193	45	43	44		1165	-0.8	0	1	dbSNP_134	44	0,8600		0,0,4300	yes	missense	FCRL4	NM_031282.2	58	0,10,6493	TT,TC,CC		0.0,0.227,0.0769	benign	389/516	157551405	10,12996	2203	4300	6503	SO:0001583	missense	83417					integral to membrane|plasma membrane	receptor activity	g.chr1:157551405C>T	AF343661	CCDS1166.1	1q21	2013-01-14			ENSG00000163518	ENSG00000163518		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	18507	protein-coding gene	gene with protein product		605876				11290337, 11493702	Standard	NM_031282		Approved	FCRH4, IRTA1, IGFP2, CD307d	uc001fqw.3	Q96PJ5	OTTHUMG00000035488	ENST00000271532.1:c.1165G>A	1.37:g.157551405C>T	ENSP00000271532:p.Ala389Thr					FCRL4_ENST00000448509.2_5'UTR	p.A389T	NM_031282.2	NP_112572.1	Q96PJ5	FCRL4_HUMAN			7	1300	-	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.245)	389					Q96PJ3|Q96RE0	Missense_Mutation	SNP	ENST00000271532.1	37	c.1165G>A	CCDS1166.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	10.09	1.253832	0.22965	0.00227	0.0	ENSG00000163518	ENST00000271532	T	0.21734	1.99	4.63	-0.756	0.11057	.	0.894203	0.09252	N	0.827770	T	0.02970	0.0088	N	0.17248	0.465	0.09310	N	1	B	0.21905	0.062	B	0.15870	0.014	T	0.45469	-0.9259	10	0.25106	T	0.35	.	4.5624	0.12166	0.0:0.4681:0.1564:0.3756	.	389	Q96PJ5	FCRL4_HUMAN	T	389	ENSP00000271532:A389T	ENSP00000271532:A389T	A	-	1	0	FCRL4	155818029	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.293000	0.08320	-0.061000	0.13110	-0.444000	0.05651	GCC		0.572	FCRL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086180.1	NM_031282		5	44	0	0	0	1	0	5	44					T	157551405	C	T	157551405	3	4	44	1	0	0	0	0	1	0	0	0	5797	768	27	1	406	1	FCRL4	1	157551405	Missense_Mutation	SNP	C	TCGA-EJ-5494-01A-01D-1576-08	2102716	157551405	91699216	2	2337											
HMCN1	83872	broad.mit.edu	37	chr1	186147655	186147655	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gacaacatttattaggggacGggaaatcttgcgctggattg	11	11	13	6	2	1	0	0	0	1	0	1	4	1	3	0	4	2	1	0	4	4	5	rs144069476	byFrequency	TCGA-EJ-5494-01A-01D-1576-08	TCGA-EJ-5494-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c8c9d3-e3d6-45ea-b448-e1143892a190	d498facd-d3ad-4e75-87a2-bea5253d9f1f	g.chr1:186147655G>A	ENST00000271588.4	+	104	16280	c.16051G>A	c.(16051-16053)Ggg>Agg	p.G5351R	HMCN1_ENST00000367492.2_Intron|GS1-174L6.4_ENST00000428391.1_RNA	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	5351	EGF-like 6; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)	p.G5351W(1)|p.G5351R(1)		NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						ATTAGGGGACGGGAAATCTTG	0.483													G|||	2	0.000399361	8e-04	0.0014	5008	,	,		18213	0		0	False		,,,				2504	0					ENST00000271588.4																			2	Substitution - Missense(2)	p.G5351W(1)|p.G5351R(1)	prostate(1)|lung(1)	NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						c.(16051-16053)Ggg>Agg		hemicentin 1		G	ARG/GLY	0,4406		0,0,2203	160	161	160		16051	5.8	1	1	dbSNP_134	160	1,8599	1.2+/-3.3	0,1,4299	no	missense	HMCN1	NM_031935.2	125	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	5351/5636	186147655	1,13005	2203	4300	6503	SO:0001583	missense	83872				response to stimulus|visual perception	basement membrane	calcium ion binding	g.chr1:186147655G>A	AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"Fibulins", "Immunoglobulin superfamily / I-set domain containing"	19194	protein-coding gene	gene with protein product	"fibulin 6"	608548	"age-related macular degeneration 1 (senile macular degeneration)"	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.16051G>A	1.37:g.186147655G>A	ENSP00000271588:p.Gly5351Arg					HMCN1_ENST00000367492.2_Intron	p.G5351R	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN			104	16280	+			5351			EGF-like 6; calcium-binding (Potential).		A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Missense_Mutation	SNP	ENST00000271588.4	37	c.16051G>A	CCDS30956.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	21.7	4.186400	0.78789	0.0	1.16E-4	ENSG00000143341	ENST00000271588	D	0.89343	-2.5	5.77	5.77	0.91146	Growth factor, receptor (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	D	0.000000	D	0.94225	0.8146	M	0.69185	2.1	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.93892	0.7180	10	0.72032	D	0.01	.	20.3626	0.98863	0.0:0.0:1.0:0.0	.	5351	Q96RW7	HMCN1_HUMAN	R	5351	ENSP00000271588:G5351R	ENSP00000271588:G5351R	G	+	1	0	HMCN1	184414278	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.751000	0.98889	2.885000	0.99019	0.655000	0.94253	GGG		0.483	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935		11	333	0	0	0	1	0	11	333					A	186147655	G	A	186147655	3	1	44	1	0	0	0	0	1	0	0	0	7220	1116	39	2	16465	2	HMCN1	1	186147655	Missense_Mutation	SNP	G	TCGA-EJ-5494-01A-01D-1576-08	28596250	186147655	63102966	3	2338											
HHIPL2	79802	broad.mit.edu	37	chr1	222717002	222717002	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatagaacttgcgattgtggCggaatttggggtgaaaagcc	11	11	14	5	2	0	2	0	1	0	1	0	4	0	3	1	4	3	0	1	4	6	5			TCGA-EJ-5494-01A-01D-1576-08	TCGA-EJ-5494-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c8c9d3-e3d6-45ea-b448-e1143892a190	d498facd-d3ad-4e75-87a2-bea5253d9f1f	g.chr1:222717002C>T	ENST00000343410.6	-	2	909	c.851G>A	c.(850-852)cGc>cAc	p.R284H		NM_024746.3	NP_079022.2	Q6UWX4	HIPL2_HUMAN	HHIP-like 2	284					carbohydrate metabolic process (GO:0005975)	extracellular region (GO:0005576)	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor (GO:0016901)|quinone binding (GO:0048038)	p.R284H(1)		NS(2)|endometrium(8)|kidney(4)|large_intestine(7)|lung(28)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59				GBM - Glioblastoma multiforme(131;0.0185)		GCGATTGTGGCGGAATTTGGG	0.483																																						ENST00000343410.6																			1	Substitution - Missense(1)	p.R284H(1)	prostate(1)	NS(2)|endometrium(8)|kidney(4)|large_intestine(7)|lung(28)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59						c.(850-852)cGc>cAc		HHIP-like 2							120	135	130					1																	222717002		2203	4300	6503	SO:0001583	missense	79802				carbohydrate metabolic process	extracellular region	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding	g.chr1:222717002C>T	BC007638	CCDS1530.2	1q41	2008-02-05	2008-01-16	2008-01-16	ENSG00000143512	ENSG00000143512			25842	protein-coding gene	gene with protein product			"KIAA1822-like"	KIAA1822L		12975309	Standard	NM_024746		Approved	FLJ13840	uc001hnh.1	Q6UWX4	OTTHUMG00000037545	ENST00000343410.6:c.851G>A	1.37:g.222717002C>T	ENSP00000342118:p.Arg284His						p.R284H	NM_024746.3	NP_079022.2	Q6UWX4	HIPL2_HUMAN		GBM - Glioblastoma multiforme(131;0.0185)	2	909	-			284					Q6GU65|Q96BT4|Q96BU5|Q9H8A0	Missense_Mutation	SNP	ENST00000343410.6	37	c.851G>A	CCDS1530.2	.	.	.	.	.	.	.	.	.	.	C	11.80	1.747312	0.30955	.	.	ENSG00000143512	ENST00000343410	T	0.14266	2.52	5.2	-1.55	0.08558	Soluble quinoprotein glucose/sorbosone dehydrogenase (1);Six-bladed beta-propeller, TolB-like (1);	0.575798	0.17518	N	0.171343	T	0.10809	0.0264	L	0.49778	1.585	0.19300	N	0.999978	B	0.28419	0.211	B	0.24848	0.056	T	0.16837	-1.0389	10	0.48119	T	0.1	-7.1715	7.303	0.26432	0.0:0.3416:0.1196:0.5388	.	284	Q6UWX4	HIPL2_HUMAN	H	284	ENSP00000342118:R284H	ENSP00000342118:R284H	R	-	2	0	HHIPL2	220783625	0.001000	0.12720	0.142000	0.22268	0.981000	0.71138	-0.127000	0.10547	-0.306000	0.08818	-0.373000	0.07131	CGC		0.483	HHIPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091499.2	NM_024746		8	236	0	0	0	1	0	8	236					T	222717002	C	T	222717002	3	4	44	1	0	0	0	0	1	0	0	0	7094	768	27	1	1355	1	HHIPL2	1	222717002	Missense_Mutation	SNP	C	TCGA-EJ-5494-01A-01D-1576-08	36569347	222717002	26533619	4	2339											
UBR3	130507	broad.mit.edu	37	chr2	170930058	170930058	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cagttccagcatttgatattAtaactcagtggtgttttgag	10	16	9	6	0	1	2	1	2	0	0	2	2	2	2	1	1	2	3	1	1	3	7			TCGA-EJ-5494-01A-01D-1576-08	TCGA-EJ-5494-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c8c9d3-e3d6-45ea-b448-e1143892a190	d498facd-d3ad-4e75-87a2-bea5253d9f1f	g.chr2:170930058A>G	ENST00000272793.5	+	36	5190	c.5140A>G	c.(5140-5142)Ata>Gta	p.I1714V	UBR3_ENST00000392631.1_Missense_Mutation_p.I535V|UBR3_ENST00000418381.1_Missense_Mutation_p.I1714V			Q6ZT12	UBR3_HUMAN	ubiquitin protein ligase E3 component n-recognin 3 (putative)	1714					embryo development (GO:0009790)|in utero embryonic development (GO:0001701)|olfactory behavior (GO:0042048)|sensory perception of smell (GO:0007608)|suckling behavior (GO:0001967)|ubiquitin-dependent protein catabolic process (GO:0006511)	integral component of membrane (GO:0016021)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.I567V(1)|p.I1714V(1)		breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(3)|stomach(1)	33						ATTTGATATTATAACTCAGTG	0.418																																						ENST00000272793.5																			2	Substitution - Missense(2)	p.I567V(1)|p.I1714V(1)	prostate(2)	breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(3)|stomach(1)	33						c.(5140-5142)Ata>Gta		ubiquitin protein ligase E3 component n-recognin 3 (putative)							120	116	117					2																	170930058		2203	4299	6502	SO:0001583	missense	130507				sensory perception of smell|suckling behavior|ubiquitin-dependent protein catabolic process	integral to membrane	ubiquitin-protein ligase activity|zinc ion binding	g.chr2:170930058A>G	AL834144	CCDS2238.2	2q31.1	2008-06-23	2008-06-23	2007-11-29	ENSG00000144357	ENSG00000144357		"Ubiquitin protein ligase E3 component n-recognins"	30467	protein-coding gene	gene with protein product		613831	"zinc finger protein 650"	ZNF650		17462990	Standard	NM_172070		Approved	KIAA2024, DKFZp434P117, FLJ37422	uc010zdi.2	Q6ZT12	OTTHUMG00000132229	ENST00000272793.5:c.5140A>G	2.37:g.170930058A>G	ENSP00000272793:p.Ile1714Val					UBR3_ENST00000418381.1_Missense_Mutation_p.I1714V|UBR3_ENST00000392631.1_Missense_Mutation_p.I535V	p.I1714V			Q6ZT12	UBR3_HUMAN			36	5190	+			1714					B4DZR7|Q2KHN5|Q6ZR55|Q6ZSC2|Q8IVE7|Q8ND96	Missense_Mutation	SNP	ENST00000272793.5	37	c.5140A>G		.	.	.	.	.	.	.	.	.	.	A	3.948	-0.012940	0.07727	.	.	ENSG00000144357	ENST00000272793;ENST00000442603;ENST00000418381;ENST00000392631;ENST00000439681	T;T;T;T	0.50001	0.76;0.76;0.76;0.76	5.31	4.07	0.47477	.	0.097389	0.64402	D	0.000001	T	0.27454	0.0674	N	0.16368	0.405	0.32023	N	0.60048	B;B;B	0.14438	0.001;0.01;0.001	B;B;B	0.16289	0.001;0.015;0.005	T	0.19844	-1.0293	10	0.08381	T	0.77	.	11.378	0.49739	0.8645:0.0:0.0:0.1355	.	1714;535;1743	Q6ZT12;Q6ZT12-2;E7EVK3	UBR3_HUMAN;.;.	V	1714;1743;1714;535;414	ENSP00000272793:I1714V;ENSP00000396068:I1714V;ENSP00000376408:I535V;ENSP00000389097:I414V	ENSP00000272793:I1714V	I	+	1	0	UBR3	170638304	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.037000	0.49775	2.126000	0.65437	0.533000	0.62120	ATA		0.418	UBR3-001	KNOWN	non_canonical_conserved|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000255290.2	NM_172070		91	137	0	0	0	1	0	91	137					G	170930058	A	G	170930058	3	3	44	1	0	0	0	0	1	0	0	0	16900	449	16	4	5282	4	UBR3	2	170930058	Missense_Mutation	SNP	A	TCGA-EJ-5494-01A-01D-1576-08		170930058	72269315	5	2340											
CXCR1	3577	broad.mit.edu	37	chr2	219028938	219028938	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtaggaggtaacacgatgacGtgccaagaactccttgctga	12	8	12	9	2	0	3	0	2	0	1	1	5	1	4	2	2	4	3	2	2	4	3	rs140349292	byFrequency	TCGA-EJ-5494-01A-01D-1576-08	TCGA-EJ-5494-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c8c9d3-e3d6-45ea-b448-e1143892a190	d498facd-d3ad-4e75-87a2-bea5253d9f1f	g.chr2:219028938G>A	ENST00000295683.2	-	2	1117	c.997C>T	c.(997-999)Cgt>Tgt	p.R333C		NM_000634.2	NP_000625.1	P25024	CXCR1_HUMAN	chemokine (C-X-C motif) receptor 1	333					cell surface receptor signaling pathway (GO:0007166)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|dendritic cell chemotaxis (GO:0002407)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|interleukin-8-mediated signaling pathway (GO:0038112)|receptor internalization (GO:0031623)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	chemokine receptor activity (GO:0004950)|G-protein coupled receptor activity (GO:0004930)|interleukin-8 binding (GO:0019959)|interleukin-8 receptor activity (GO:0004918)	p.R333C(1)		endometrium(1)|large_intestine(2)|lung(7)|prostate(3)	13					Ketoprofen(DB01009)	ACACGATGACGTGCCAAGAAC	0.468																																						ENST00000295683.2																			1	Substitution - Missense(1)	p.R333C(1)	prostate(1)	endometrium(1)|large_intestine(2)|lung(7)|prostate(3)	13						c.(997-999)Cgt>Tgt		chemokine (C-X-C motif) receptor 1		G	CYS/ARG	0,4406		0,0,2203	132	123	126		997	2.5	0.1	2	dbSNP_134	126	6,8594	5.0+/-18.6	0,6,4294	yes	missense	CXCR1	NM_000634.2	180	0,6,6497	AA,AG,GG		0.0698,0.0,0.0461	probably-damaging	333/351	219028938	6,13000	2203	4300	6503	SO:0001583	missense	3577				dendritic cell chemotaxis|inflammatory response	integral to membrane|plasma membrane	interleukin-8 receptor activity	g.chr2:219028938G>A	U11870	CCDS2409.1	2q35	2012-08-08	2009-11-25	2009-11-25	ENSG00000163464	ENSG00000163464		"CD molecules", "GPCR / Class A : Chemokine receptors : C-X-C motif", "Interleukins and interleukin receptors"	6026	protein-coding gene	gene with protein product		146929	"interleukin 8 receptor, alpha"	CMKAR1, IL8RA		1303245, 1427896	Standard	NM_000634		Approved	CKR-1, CDw128a, CD181	uc002vhc.3	P25024	OTTHUMG00000133108	ENST00000295683.2:c.997C>T	2.37:g.219028938G>A	ENSP00000295683:p.Arg333Cys						p.R333C	NM_000634.2	NP_000625.1	P25024	CXCR1_HUMAN			2	1117	-			333					B2R6Q3|Q2YEF8|Q2YEG4|Q2YEG5|Q2YEG7|Q2YEG8|Q53R18|Q6IN95|Q8N6T6|Q9P2T8|Q9P2T9|Q9P2U0|Q9P2U1|Q9P2U2	Missense_Mutation	SNP	ENST00000295683.2	37	c.997C>T	CCDS2409.1	.	.	.	.	.	.	.	.	.	.	G	12.85	2.062193	0.36373	0.0	6.98E-4	ENSG00000163464	ENST00000295683;ENST00000421691	T	0.69040	-0.37	4.29	2.48	0.30137	.	4.122290	0.00166	N	0.000014	T	0.73024	0.3534	L	0.40543	1.245	0.09310	N	0.999999	D	0.76494	0.999	P	0.58266	0.836	T	0.54248	-0.8322	10	0.52906	T	0.07	.	8.1944	0.31387	0.1883:0.0:0.8117:0.0	.	333	P25024	CXCR1_HUMAN	C	333;277	ENSP00000295683:R333C	ENSP00000295683:R333C	R	-	1	0	CXCR1	218737183	0.050000	0.20438	0.128000	0.21923	0.332000	0.28634	0.923000	0.28757	0.381000	0.24851	0.561000	0.74099	CGT		0.468	CXCR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256773.2	NM_000634		8	107	0	0	0	1	0	8	107					A	219028938	G	A	219028938	3	1	44	1	0	0	0	0	1	0	0	0	4090	1145	40	1	59	1	CXCR1	2	219028938	Missense_Mutation	SNP	G	TCGA-EJ-5494-01A-01D-1576-08	48098880	219028938	24170435	6	2341											
SCN11A	11280	broad.mit.edu	37	chr3	38936053	38936053	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aggctcaggttgtgtgatgcGctgtgcattatcttcaccag	7	13	12	9	1	3	1	2	1	1	0	3	1	3	1	1	2	2	4	1	2	1	3			TCGA-EJ-5494-01A-01D-1576-08	TCGA-EJ-5494-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c8c9d3-e3d6-45ea-b448-e1143892a190	d498facd-d3ad-4e75-87a2-bea5253d9f1f	g.chr3:38936053G>A	ENST00000302328.3	-	15	3004	c.2806C>T	c.(2806-2808)Cgc>Tgc	p.R936C	SCN11A_ENST00000450244.1_Missense_Mutation_p.R936C|SCN11A_ENST00000456224.3_Missense_Mutation_p.R936C|SCN11A_ENST00000444237.2_Missense_Mutation_p.R936C	NM_014139.2	NP_054858.2	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	936					cell death (GO:0008219)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|regulation of sensory perception of pain (GO:0051930)|response to drug (GO:0042493)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	C-fiber (GO:0044299)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)|Valproic Acid(DB00313)|Zonisamide(DB00909)	TGTGTGATGCGCTGTGCATTA	0.493																																						ENST00000302328.3																			0				NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119						c.(2806-2808)Cgc>Tgc		sodium channel, voltage-gated, type XI, alpha subunit	Cocaine(DB00907)						231	232	232					3																	38936053		2203	4300	6503	SO:0001583	missense	11280				response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr3:38936053G>A	AF126739	CCDS33737.1	3p22.2	2012-02-26	2007-01-23		ENSG00000168356	ENSG00000168356		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10583	protein-coding gene	gene with protein product		604385	"sodium channel, voltage-gated, type XI, alpha polypeptide", "sodium channel, voltage-gated, type XII, alpha"	SCN12A		10444332, 16382098	Standard	NM_014139		Approved	Nav1.9, NaN, SNS-2	uc021wvy.1	Q9UI33	OTTHUMG00000048246	ENST00000302328.3:c.2806C>T	3.37:g.38936053G>A	ENSP00000307599:p.Arg936Cys					SCN11A_ENST00000444237.2_Missense_Mutation_p.R936C|SCN11A_ENST00000450244.1_Missense_Mutation_p.R936C|SCN11A_ENST00000456224.3_Missense_Mutation_p.R936C	p.R936C	NM_014139.2	NP_054858.2	Q9UI33	SCNBA_HUMAN		Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	15	3004	-			936					A6NN05|C9JD48|C9JR31|Q68K15|Q8NDX3|Q9UHE0|Q9UHM0	Missense_Mutation	SNP	ENST00000302328.3	37	c.2806C>T	CCDS33737.1	.	.	.	.	.	.	.	.	.	.	G	13.10	2.137390	0.37728	.	.	ENSG00000168356	ENST00000302328;ENST00000450244;ENST00000456224;ENST00000444237	D;D;D;D	0.83992	-1.79;-1.79;-1.79;-1.79	5.2	-5.89	0.02282	Sodium ion transport-associated (1);	3.917410	0.00496	N	0.000151	T	0.62780	0.2456	N	0.08118	0	0.09310	N	1	P	0.40050	0.7	B	0.38056	0.264	T	0.59931	-0.7361	10	0.62326	D	0.03	.	2.3266	0.04224	0.1481:0.3552:0.1419:0.3548	.	936	Q9UI33	SCNBA_HUMAN	C	936	ENSP00000307599:R936C;ENSP00000400945:R936C;ENSP00000416757:R936C;ENSP00000408028:R936C	ENSP00000307599:R936C	R	-	1	0	SCN11A	38911057	0.000000	0.05858	0.000000	0.03702	0.058000	0.15608	-2.491000	0.00974	-0.676000	0.05238	0.650000	0.86243	CGC		0.493	SCN11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109746.4	NM_014139		10	480	0	0	0	1	0	10	480					A	38936053	G	A	38936053	3	1	44	1	0	0	0	0	1	0	0	0	13913	1087	38	1	2617	1	SCN11A	3	38936053	Missense_Mutation	SNP	G	TCGA-EJ-5494-01A-01D-1576-08		38936053	159086377	7	2342											
CTNNB1	1499	broad.mit.edu	37	chr3	41266098	41266098	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagcaacagtcttacctggActctggaatccattctggtg	9	11	10	11	0	3	0	0	0	3	0	4	2	4	2	2	3	3	2	2	3	3	2	rs121913396|rs121913416		TCGA-EJ-5494-01A-01D-1576-08	TCGA-EJ-5494-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c8c9d3-e3d6-45ea-b448-e1143892a190	d498facd-d3ad-4e75-87a2-bea5253d9f1f	g.chr3:41266098A>T	ENST00000349496.5	+	3	375	c.95A>T	c.(94-96)gAc>gTc	p.D32V	CTNNB1_ENST00000396185.3_Missense_Mutation_p.D32V|CTNNB1_ENST00000453024.1_Missense_Mutation_p.D25V|CTNNB1_ENST00000405570.1_Missense_Mutation_p.D32V|CTNNB1_ENST00000396183.3_Missense_Mutation_p.D32V	NM_001904.3	NP_001895.1	P35222	CTNB1_HUMAN	catenin (cadherin-associated protein), beta 1, 88kDa	32			D -> A (in hepatocellular carcinoma). {ECO:0000269|PubMed:10435629}.|D -> G (in PTR and hepatocellular carcinoma). {ECO:0000269|PubMed:10192393, ECO:0000269|PubMed:10435629}.|D -> Y (in PTR, hepatoblastoma and hepatocellular carcinoma; dbSNP:rs28931588). {ECO:0000269|PubMed:10192393, ECO:0000269|PubMed:10435629, ECO:0000269|PubMed:11703283, ECO:0000269|PubMed:9927029}.|Missing (in hepatocellular carcinoma). {ECO:0000269|PubMed:10435629}.		adherens junction assembly (GO:0034333)|androgen receptor signaling pathway (GO:0030521)|anterior/posterior axis specification (GO:0009948)|apoptotic process (GO:0006915)|bone resorption (GO:0045453)|branching involved in ureteric bud morphogenesis (GO:0001658)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|canonical Wnt signaling pathway involved in positive regulation of cardiac outflow tract cell proliferation (GO:0061324)|canonical Wnt signaling pathway involved in positive regulation of epithelial to mesenchymal transition (GO:0044334)|cell adhesion (GO:0007155)|cell fate specification (GO:0001708)|cell maturation (GO:0048469)|cell-matrix adhesion (GO:0007160)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to growth factor stimulus (GO:0071363)|cellular response to indole-3-methanol (GO:0071681)|cellular response to mechanical stimulus (GO:0071260)|central nervous system vasculogenesis (GO:0022009)|cytoskeletal anchoring at plasma membrane (GO:0007016)|determination of dorsal/ventral asymmetry (GO:0048262)|dorsal/ventral axis specification (GO:0009950)|ectoderm development (GO:0007398)|embryonic axis specification (GO:0000578)|embryonic digit morphogenesis (GO:0042733)|embryonic foregut morphogenesis (GO:0048617)|embryonic forelimb morphogenesis (GO:0035115)|embryonic heart tube development (GO:0035050)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal limb joint morphogenesis (GO:0036023)|endodermal cell fate commitment (GO:0001711)|endothelial tube morphogenesis (GO:0061154)|epithelial cell differentiation involved in prostate gland development (GO:0060742)|epithelial to mesenchymal transition (GO:0001837)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|fungiform papilla formation (GO:0061198)|gastrulation with mouth forming second (GO:0001702)|genitalia morphogenesis (GO:0035112)|glial cell fate determination (GO:0007403)|hair cell differentiation (GO:0035315)|hair follicle morphogenesis (GO:0031069)|hair follicle placode formation (GO:0060789)|hindbrain development (GO:0030902)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|layer formation in cerebral cortex (GO:0021819)|lens morphogenesis in camera-type eye (GO:0002089)|liver development (GO:0001889)|lung cell differentiation (GO:0060479)|lung induction (GO:0060492)|lung-associated mesenchyme development (GO:0060484)|male genitalia development (GO:0030539)|mesenchymal cell proliferation involved in lung development (GO:0060916)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|midgut development (GO:0007494)|muscle cell differentiation (GO:0042692)|myoblast differentiation (GO:0045445)|negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of heart induction by canonical Wnt signaling pathway (GO:0003136)|negative regulation of neuron death (GO:1901215)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein sumoylation (GO:0033234)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nephron tubule formation (GO:0072079)|neural plate development (GO:0001840)|neuron migration (GO:0001764)|odontogenesis of dentin-containing tooth (GO:0042475)|oocyte development (GO:0048599)|osteoclast differentiation (GO:0030316)|oviduct development (GO:0060066)|pancreas development (GO:0031016)|patterning of blood vessels (GO:0001569)|positive regulation of apoptotic process (GO:0043065)|positive regulation of branching involved in lung morphogenesis (GO:0061047)|positive regulation of determination of dorsal identity (GO:2000017)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of epithelial cell proliferation involved in prostate gland development (GO:0060769)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of fibroblast growth factor receptor signaling pathway (GO:0045743)|positive regulation of heparan sulfate proteoglycan biosynthetic process (GO:0010909)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein heterooligomerization (GO:0051291)|protein localization to cell surface (GO:0034394)|proximal/distal pattern formation (GO:0009954)|regulation of angiogenesis (GO:0045765)|regulation of calcium ion import (GO:0090279)|regulation of centriole-centriole cohesion (GO:0030997)|regulation of centromeric sister chromatid cohesion (GO:0070602)|regulation of fibroblast proliferation (GO:0048145)|regulation of myelination (GO:0031641)|regulation of nephron tubule epithelial cell differentiation (GO:0072182)|regulation of protein localization to cell surface (GO:2000008)|regulation of secondary heart field cardioblast proliferation (GO:0003266)|regulation of smooth muscle cell proliferation (GO:0048660)|regulation of T cell proliferation (GO:0042129)|renal inner medulla development (GO:0072053)|renal outer medulla development (GO:0072054)|renal vesicle formation (GO:0072033)|response to cadmium ion (GO:0046686)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|Schwann cell proliferation (GO:0014010)|single organismal cell-cell adhesion (GO:0016337)|smooth muscle cell differentiation (GO:0051145)|synapse organization (GO:0050808)|synaptic vesicle transport (GO:0048489)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tongue morphogenesis (GO:0043587)|trachea formation (GO:0060440)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	adherens junction (GO:0005912)|apical part of cell (GO:0045177)|basolateral plasma membrane (GO:0016323)|beta-catenin destruction complex (GO:0030877)|beta-catenin-TCF7L2 complex (GO:0070369)|catenin complex (GO:0016342)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cell periphery (GO:0071944)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|membrane (GO:0016020)|microvillus membrane (GO:0031528)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein-DNA complex (GO:0032993)|Scrib-APC-beta-catenin complex (GO:0034750)|synapse (GO:0045202)|tight junction (GO:0005923)|transcription factor complex (GO:0005667)|Z disc (GO:0030018)|zonula adherens (GO:0005915)	alpha-catenin binding (GO:0045294)|androgen receptor binding (GO:0050681)|cadherin binding (GO:0045296)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|estrogen receptor binding (GO:0030331)|I-SMAD binding (GO:0070411)|ion channel binding (GO:0044325)|kinase binding (GO:0019900)|nuclear hormone receptor binding (GO:0035257)|protein C-terminus binding (GO:0008022)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|R-SMAD binding (GO:0070412)|RNA polymerase II activating transcription factor binding (GO:0001102)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|SMAD binding (GO:0046332)|structural molecule activity (GO:0005198)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)	p.D32G(65)|p.A5_A80del(53)|p.D32V(33)|p.D32A(16)|p.A5_Q143del(7)|p.A5_A80>D(7)|p.Q28_H134del(5)|p.WQQQSYLD25?(5)|p.W25_D32del(4)|p.?(4)|p.V22_G38del(3)|p.W25_I140del(3)|p.T3_A126del(2)|p.S23_S33del(2)|p.V22_S33del(2)|p.A5fs*7(2)|p.D32_S47del(2)|p.M5_N141>D(2)|p.L10_N141del(2)|p.A5_Y142>D(2)|p.Y30_S33del(2)|p.A5_Q143>E(1)|p.A13_R151del(1)|p.S29_H36del(1)|p.D32del(1)|p.M14_S45del(1)|p.Q28_D32>H(1)|p.A20_N141del(1)|p.M1_A87del(1)|p.D11_Y142>H(1)|p.H24_G38del(1)|p.S23_I35del(1)|p.Y30_A97del(1)|p.W25_S33del(1)|p.V22_T102del(1)|p.A20_A80del(1)|p.V22_S71>A(1)|p.Q28_A43del(1)|p.A5_T59del(1)|p.D32fs*9(1)|p.A20_I35del(1)|p.M1_V173del(1)|p.E15_I140>V(1)|p.S23_A39del(1)|p.H24_M131del(1)|p.A21_A80del(1)|p.Y30_A80del(1)|p.A5_T40del(1)|p.A5_E54del(1)|p.W25_I35del(1)|p.M8_A80del(1)|p.P16_K133del(1)|p.V22_Y64del(1)|p.Q28_Q61del(1)|p.A20_S111del(1)|p.Y30_T40del(1)|p.A5_I35del(1)|p.D32_H36del(1)	CTNNB1/PLAG1(60)	NS(4)|adrenal_gland(103)|biliary_tract(43)|bone(21)|breast(7)|central_nervous_system(260)|cervix(9)|endometrium(293)|eye(1)|haematopoietic_and_lymphoid_tissue(60)|kidney(202)|large_intestine(269)|liver(1010)|lung(63)|oesophagus(6)|ovary(106)|pancreas(126)|parathyroid(11)|pituitary(111)|pleura(2)|prostate(31)|salivary_gland(13)|skin(103)|small_intestine(17)|soft_tissue(792)|stomach(165)|thyroid(55)|upper_aerodigestive_tract(2)|urinary_tract(8)	3893				KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294)		TCTTACCTGGACTCTGGAATC	0.483	D32V(HEC265_ENDOMETRIUM)|D32V(HEC6_ENDOMETRIUM)	15	"H, Mis, T"	PLAG1	"colorectal, cvarian,  hepatoblastoma, others, pleomorphic salivary adenoma"				Pilomatrixoma, Familial Clustering of																												Colon(6;3 56 14213 18255)	ENST00000349496.5	D32V(HEC265_ENDOMETRIUM)|D32V(HEC6_ENDOMETRIUM)	15		Dom	yes		3	3p22-p21.3	1499	"H, Mis, T"	"catenin (cadherin-associated protein), beta 1"			"E, M, O"	PLAG1		"colorectal, cvarian,  hepatoblastoma, others, pleomorphic salivary adenoma"	CTNNB1/PLAG1(60)	260	Deletion - In frame(120)|Substitution - Missense(114)|Complex - deletion inframe(16)|Unknown(7)|Deletion - Frameshift(3)	p.D32G(65)|p.A5_A80del(53)|p.D32V(33)|p.D32A(16)|p.A5_Q143del(7)|p.A5_A80>D(7)|p.Q28_H134del(5)|p.WQQQSYLD25?(5)|p.W25_D32del(4)|p.?(4)|p.V22_G38del(3)|p.W25_I140del(3)|p.T3_A126del(2)|p.S23_S33del(2)|p.V22_S33del(2)|p.A5fs*7(2)|p.D32_S47del(2)|p.M5_N141>D(2)|p.L10_N141del(2)|p.A5_Y142>D(2)|p.Y30_S33del(2)|p.A5_Q143>E(1)|p.A13_R151del(1)|p.S29_H36del(1)|p.D32del(1)|p.M14_S45del(1)|p.Q28_D32>H(1)|p.A20_N141del(1)|p.M1_A87del(1)|p.D11_Y142>H(1)|p.H24_G38del(1)|p.S23_I35del(1)|p.Y30_A97del(1)|p.W25_S33del(1)|p.V22_T102del(1)|p.A20_A80del(1)|p.V22_S71>A(1)|p.Q28_A43del(1)|p.A5_T59del(1)|p.D32fs*9(1)|p.A20_I35del(1)|p.M1_V173del(1)|p.E15_I140>V(1)|p.S23_A39del(1)|p.H24_M131del(1)|p.A21_A80del(1)|p.Y30_A80del(1)|p.A5_T40del(1)|p.A5_E54del(1)|p.W25_I35del(1)|p.M8_A80del(1)|p.P16_K133del(1)|p.V22_Y64del(1)|p.Q28_Q61del(1)|p.A20_S111del(1)|p.Y30_T40del(1)|p.A5_I35del(1)|p.D32_H36del(1)	liver(154)|large_intestine(24)|pancreas(19)|central_nervous_system(16)|stomach(14)|endometrium(7)|skin(7)|ovary(4)|prostate(3)|pituitary(3)|small_intestine(2)|NS(2)|adrenal_gland(1)|soft_tissue(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|urinary_tract(1)	NS(4)|adrenal_gland(103)|biliary_tract(43)|bone(21)|breast(7)|central_nervous_system(260)|cervix(9)|endometrium(293)|eye(1)|haematopoietic_and_lymphoid_tissue(60)|kidney(202)|large_intestine(269)|liver(1010)|lung(63)|oesophagus(6)|ovary(106)|pancreas(126)|parathyroid(11)|pituitary(111)|pleura(2)|prostate(31)|salivary_gland(13)|skin(103)|small_intestine(17)|soft_tissue(792)|stomach(165)|thyroid(55)|upper_aerodigestive_tract(2)|urinary_tract(8)	3893						c.(94-96)gAc>gTc		catenin (cadherin-associated protein), beta 1, 88kDa	Lithium(DB01356)						92	77	82					3																	41266098		2203	4300	6503	SO:0001583	missense	1499	Pilomatrixoma, Familial Clustering of	Familial Cancer Database	Pilomatricoma, Familial Clustering of, Epithelioma Calcificans of Malherbe	adherens junction assembly|androgen receptor signaling pathway|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway involved in negative regulation of apoptosis|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell-cell adhesion|cell-matrix adhesion|cellular component disassembly involved in apoptosis|cellular response to growth factor stimulus|cellular response to indole-3-methanol|central nervous system vasculogenesis|cytoskeletal anchoring at plasma membrane|determination of dorsal/ventral asymmetry|dorsal/ventral axis specification|ectoderm development|embryonic axis specification|embryonic foregut morphogenesis|embryonic leg joint morphogenesis|endodermal cell fate commitment|endothelial tube morphogenesis|epithelial to mesenchymal transition|gastrulation with mouth forming second|glial cell fate determination|hair follicle morphogenesis|hair follicle placode formation|hindbrain development|liver development|lung cell differentiation|lung induction|lung-associated mesenchyme development|male genitalia development|mesenchymal cell proliferation involved in lung development|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of osteoclast differentiation|negative regulation of transcription from RNA polymerase II promoter|nephron tubule formation|odontogenesis of dentine-containing tooth|oocyte development|pancreas development|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of branching involved in lung morphogenesis|positive regulation of epithelial cell proliferation involved in prostate gland development|positive regulation of fibroblast growth factor receptor signaling pathway|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of muscle cell differentiation|positive regulation of osteoblast differentiation|positive regulation of transcription from RNA polymerase II promoter|protein localization at cell surface|proximal/distal pattern formation|regulation of angiogenesis|regulation of calcium ion import|regulation of centriole-centriole cohesion|regulation of centromeric sister chromatid cohesion|regulation of fibroblast proliferation|regulation of nephron tubule epithelial cell differentiation|regulation of protein localization at cell surface|regulation of smooth muscle cell proliferation|regulation of T cell proliferation|renal inner medulla development|renal outer medulla development|renal vesicle formation|response to drug|response to estradiol stimulus|Schwann cell proliferation|smooth muscle cell differentiation|synapse organization|synaptic vesicle transport|T cell differentiation in thymus|thymus development|trachea formation	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin-TCF7L2 complex|catenin complex|cell cortex|cell-substrate adherens junction|centrosome|dendritic shaft|desmosome|fascia adherens|internal side of plasma membrane|lamellipodium|lateral plasma membrane|microvillus membrane|perinuclear region of cytoplasm|protein-DNA complex|synapse|transcription factor complex|Z disc|zonula adherens	alpha-catenin binding|androgen receptor binding|cadherin binding|estrogen receptor binding|I-SMAD binding|ion channel binding|protein binding|protein C-terminus binding|protein kinase binding|protein phosphatase binding|R-SMAD binding|RPTP-like protein binding|signal transducer activity|specific RNA polymerase II transcription factor activity|structural molecule activity|transcription coactivator activity|transcription regulatory region DNA binding	g.chr3:41266098A>T	X87838	CCDS2694.1	3p21	2013-02-15	2002-08-29		ENSG00000168036	ENSG00000168036		"Armadillo repeat containing"	2514	protein-coding gene	gene with protein product		116806	"catenin (cadherin-associated protein), beta 1 (88kD)"	CTNNB		7829088	Standard	NM_001098210		Approved	beta-catenin, armadillo	uc003ckr.2	P35222	OTTHUMG00000131393	ENST00000349496.5:c.95A>T	3.37:g.41266098A>T	ENSP00000344456:p.Asp32Val					CTNNB1_ENST00000396183.3_Missense_Mutation_p.D32V|CTNNB1_ENST00000405570.1_Missense_Mutation_p.D32V|CTNNB1_ENST00000453024.1_Missense_Mutation_p.D25V|CTNNB1_ENST00000396185.3_Missense_Mutation_p.D32V	p.D32V	NM_001904.3	NP_001895.1	P35222	CTNB1_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294)	3	375	+			32		D -> A (in hepatocellular carcinoma).|D -> G (in PTR and hepatocellular carcinoma).|D -> Y (in PTR, hepatoblastoma and hepatocellular carcinoma; dbSNP:rs28931588).|Missing (in hepatocellular carcinoma).			A8K1L7|Q8NEW9|Q8NI94|Q9H391	Missense_Mutation	SNP	ENST00000349496.5	37	c.95A>T	CCDS2694.1	.	.	.	.	.	.	.	.	.	.	A	21.7	4.184569	0.78677	.	.	ENSG00000168036	ENST00000426215;ENST00000405570;ENST00000431914;ENST00000396183;ENST00000349496;ENST00000453024;ENST00000396185;ENST00000450969;ENST00000441708	T;T;T;T;T;T;T;T;T	0.50001	0.76;0.76;0.76;0.76;0.76;0.76;0.76;0.76;0.76	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	T	0.70037	0.3178	M	0.79614	2.46	0.80722	D	1	D	0.89917	1.0	D	0.76575	0.988	T	0.74325	-0.3702	10	0.87932	D	0	0.3843	16.0676	0.80897	1.0:0.0:0.0:0.0	.	32	P35222	CTNB1_HUMAN	V	25;32;32;32;32;25;32;32;32	ENSP00000400508:D25V;ENSP00000385604:D32V;ENSP00000412219:D32V;ENSP00000379486:D32V;ENSP00000344456:D32V;ENSP00000411226:D25V;ENSP00000379488:D32V;ENSP00000409302:D32V;ENSP00000401599:D32V	ENSP00000344456:D32V	D	+	2	0	CTNNB1	41241102	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.339000	0.96797	2.201000	0.70794	0.533000	0.62120	GAC		0.483	CTNNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254182.2	NM_001098210		5	52	0	0	0	1	0	5	52					T	41266098	A	T	41266098	3	4	44	1	0	0	0	0	1	0	0	0	4016	275	10	5	101	5	CTNNB1	3	41266098	Missense_Mutation	SNP	A	TCGA-EJ-5494-01A-01D-1576-08	2330045	41266098	156756332	8	2343											
NBEAL2	23218	broad.mit.edu	37	chr3	47043892	47043892	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catgtcccagttcgaaatggAcacgtatgctaagagccacg	12	8	10	11	3	0	1	0	0	0	1	2	3	1	2	2	1	2	3	2	1	3	3			TCGA-EJ-5494-01A-01D-1576-08	TCGA-EJ-5494-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c8c9d3-e3d6-45ea-b448-e1143892a190	d498facd-d3ad-4e75-87a2-bea5253d9f1f	g.chr3:47043892A>G	ENST00000450053.3	+	32	5362	c.5183A>G	c.(5182-5184)gAc>gGc	p.D1728G	NBEAL2_ENST00000292309.5_Missense_Mutation_p.D1544G|NBEAL2_ENST00000383740.2_Missense_Mutation_p.D7G	NM_015175.2	NP_055990.1	Q6ZNJ1	NBEL2_HUMAN	neurobeachin-like 2	1728					blood coagulation (GO:0007596)|megakaryocyte development (GO:0035855)|platelet alpha granule organization (GO:0070889)|platelet formation (GO:0030220)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)				NS(1)|breast(1)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(9)|lung(9)|ovary(4)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Acute lymphoblastic leukemia(5;0.0534)		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)		TTCGAAATGGACACGTATGCT	0.597																																						ENST00000450053.3																			0				NS(1)|breast(1)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(9)|lung(9)|ovary(4)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	51						c.(5182-5184)gAc>gGc		neurobeachin-like 2							88	88	88					3																	47043892		2085	4212	6297	SO:0001583	missense	23218						binding	g.chr3:47043892A>G	AB011112	CCDS46817.1	3p21.31	2014-09-17			ENSG00000160796	ENSG00000160796		"WD repeat domain containing"	31928	protein-coding gene	gene with protein product		614169					Standard	NM_015175		Approved	KIAA0540	uc003cqp.3	Q6ZNJ1	OTTHUMG00000156497	ENST00000450053.3:c.5183A>G	3.37:g.47043892A>G	ENSP00000415034:p.Asp1728Gly					NBEAL2_ENST00000383740.2_Missense_Mutation_p.D7G|NBEAL2_ENST00000292309.5_Missense_Mutation_p.D1544G	p.D1728G	NM_015175.2	NP_055990.1	Q6ZNJ1	NBEL2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)	32	5362	+		Acute lymphoblastic leukemia(5;0.0534)	1728					O60288|Q6P994|Q6UX91|Q8NAC9	Missense_Mutation	SNP	ENST00000450053.3	37	c.5183A>G	CCDS46817.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	22.7|22.7	4.325747|4.325747	0.81580|0.81580	.|.	.|.	ENSG00000160796|ENSG00000160796	ENST00000292309;ENST00000383740;ENST00000450053|ENST00000416683	T;T;T|.	0.58506|.	0.36;0.91;0.33|.	4.84|4.84	4.84|4.84	0.62591|0.62591	.|.	0.202858|.	0.43919|.	D|.	0.000501|.	T|T	0.70762|0.70762	0.3261|0.3261	M|M	0.65498|0.65498	2.005|2.005	0.80722|0.80722	D|D	1|1	P;P|.	0.51791|.	0.948;0.774|.	P;P|.	0.52823|.	0.71;0.599|.	T|T	0.70876|0.70876	-0.4753|-0.4753	10|5	0.59425|.	D|.	0.04|.	.|.	13.4524|13.4524	0.61178|0.61178	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	1544;1728|.	Q6ZNJ1-2;Q6ZNJ1|.	.;NBEL2_HUMAN|.	G|A	1544;7;1728|1016	ENSP00000292309:D1544G;ENSP00000373246:D7G;ENSP00000415034:D1728G|.	ENSP00000292309:D1544G|.	D|T	+|+	2|1	0|0	NBEAL2|NBEAL2	47018896|47018896	1.000000|1.000000	0.71417|0.71417	0.996000|0.996000	0.52242|0.52242	0.977000|0.977000	0.68977|0.68977	7.315000|7.315000	0.78998|0.78998	2.045000|2.045000	0.60652|0.60652	0.529000|0.529000	0.55759|0.55759	GAC|ACA		0.597	NBEAL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344363.3	XM_291064		3	89	0	0	0	1	0	3	89					G	47043892	A	G	47043892	3	3	44	1	0	0	0	0	1	0	0	0	10189	275	10	4	5309	4	NBEAL2	3	47043892	Missense_Mutation	SNP	A	TCGA-EJ-5494-01A-01D-1576-08	5777794	47043892	150978538	9	2344											
FHIT	2272	broad.mit.edu	37	chr3	59999869	59999869	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccactggccgcagcgggcacAcaaggacatctgtagcaagg	11	4	13	13	2	1	0	0	0	1	0	1	1	1	1	2	4	2	4	2	4	3	1			TCGA-EJ-5494-01A-01D-1576-08	TCGA-EJ-5494-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c8c9d3-e3d6-45ea-b448-e1143892a190	d498facd-d3ad-4e75-87a2-bea5253d9f1f	g.chr3:59999869A>G	ENST00000468189.1	-	6	483	c.113T>C	c.(112-114)gTg>gCg	p.V38A	FHIT_ENST00000476844.1_Missense_Mutation_p.V38A|FHIT_ENST00000492590.1_Missense_Mutation_p.V38A|FHIT_ENST00000466788.1_Intron|FHIT_ENST00000341848.4_Missense_Mutation_p.V38A			P49789	FHIT_HUMAN	fragile histidine triad	38	HIT. {ECO:0000255|PROSITE- ProRule:PRU00464}.				DNA replication (GO:0006260)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|nucleotide metabolic process (GO:0009117)|purine nucleotide metabolic process (GO:0006163)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	bis(5'-adenosyl)-triphosphatase activity (GO:0047710)|catalytic activity (GO:0003824)|hydrolase activity (GO:0016787)|identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|ubiquitin protein ligase binding (GO:0031625)	p.V38A(2)		NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(5)|prostate(1)|stomach(1)	12		all_cancers(2;2.37e-314)|all_epithelial(2;5.17e-286)|Colorectal(2;1.24e-68)|all_lung(2;1.31e-45)|Lung NSC(2;1.79e-44)|all_hematologic(2;1.59e-23)|Renal(2;1.03e-13)|Breast(2;1.06e-10)|Esophageal squamous(2;6.31e-09)|Melanoma(2;1.83e-07)|Acute lymphoblastic leukemia(2;5.46e-05)|all_neural(2;0.00118)|Medulloblastoma(2;0.00263)|Hepatocellular(2;0.0245)|Ovarian(2;0.0408)		UCEC - Uterine corpus endometrioid carcinoma (45;0.0887)|Epithelial(1;9.28e-70)|all cancers(1;3.07e-60)|Colorectal(1;2.33e-53)|STAD - Stomach adenocarcinoma(1;7.22e-48)|COAD - Colon adenocarcinoma(3;1.05e-44)|READ - Rectum adenocarcinoma(3;2.41e-08)|KIRC - Kidney renal clear cell carcinoma(10;0.000109)|Kidney(10;0.000125)|Lung(1;0.000161)|LUSC - Lung squamous cell carcinoma(1;0.000742)|OV - Ovarian serous cystadenocarcinoma(275;0.00372)|BRCA - Breast invasive adenocarcinoma(55;0.00448)		CAGCGGGCACACAAGGACATC	0.542			T	HMGA2	pleomorphic salivary gland adenoma				Renal Cell Cancer associated with constitutional translocation of chromosome 3																													ENST00000468189.1				Dom	yes		3	3p14.2	2272	T	fragile histidine triad gene			E	HMGA2		pleomorphic salivary gland adenoma		2	Substitution - Missense(2)	p.V38A(2)	prostate(2)	NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(5)|prostate(1)|stomach(1)	12						c.(112-114)gTg>gCg		fragile histidine triad							69	69	69					3																	59999869		2203	4300	6503	SO:0001583	missense	2272	Renal Cell Cancer associated with constitutional translocation of chromosome 3	Familial Cancer Database		nucleotide metabolic process		bis(5'-adenosyl)-triphosphatase activity|protein binding	g.chr3:59999869A>G	BC032336	CCDS2894.1	3p14.2	2012-02-27	2012-02-27		ENSG00000189283	ENSG00000189283			3701	protein-coding gene	gene with protein product		601153	"fragile histidine triad gene"			8598045, 9671749	Standard	NM_002012		Approved	FRA3B, AP3Aase	uc003dky.3	P49789	OTTHUMG00000158591	ENST00000468189.1:c.113T>C	3.37:g.59999869A>G	ENSP00000417480:p.Val38Ala					FHIT_ENST00000466788.1_Intron|FHIT_ENST00000341848.4_Missense_Mutation_p.V38A|FHIT_ENST00000492590.1_Missense_Mutation_p.V38A|FHIT_ENST00000476844.1_Missense_Mutation_p.V38A	p.V38A			P49789	FHIT_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (45;0.0887)|Epithelial(1;9.28e-70)|all cancers(1;3.07e-60)|Colorectal(1;2.33e-53)|STAD - Stomach adenocarcinoma(1;7.22e-48)|COAD - Colon adenocarcinoma(3;1.05e-44)|READ - Rectum adenocarcinoma(3;2.41e-08)|KIRC - Kidney renal clear cell carcinoma(10;0.000109)|Kidney(10;0.000125)|Lung(1;0.000161)|LUSC - Lung squamous cell carcinoma(1;0.000742)|OV - Ovarian serous cystadenocarcinoma(275;0.00372)|BRCA - Breast invasive adenocarcinoma(55;0.00448)	6	483	-		all_cancers(2;2.37e-314)|all_epithelial(2;5.17e-286)|Colorectal(2;1.24e-68)|all_lung(2;1.31e-45)|Lung NSC(2;1.79e-44)|all_hematologic(2;1.59e-23)|Renal(2;1.03e-13)|Breast(2;1.06e-10)|Esophageal squamous(2;6.31e-09)|Melanoma(2;1.83e-07)|Acute lymphoblastic leukemia(2;5.46e-05)|all_neural(2;0.00118)|Medulloblastoma(2;0.00263)|Hepatocellular(2;0.0245)|Ovarian(2;0.0408)	38			HIT.		A2IAS9|A2IAT0|A2IAT6|A8K1A9|Q45QG9|Q6IU12	Missense_Mutation	SNP	ENST00000468189.1	37	c.113T>C	CCDS2894.1	.	.	.	.	.	.	.	.	.	.	A	18.47	3.631744	0.67015	.	.	ENSG00000189283	ENST00000492590;ENST00000476844;ENST00000468189;ENST00000341848;ENST00000488467	D;D;D;D;D	0.95137	-3.62;-3.62;-3.62;-3.62;-3.62	5.96	5.96	0.96718	Histidine triad motif (1);Histidine triad-like motif (1);	0.059439	0.64402	D	0.000003	D	0.98080	0.9367	H	0.96889	3.9	0.53688	D	0.999979	P	0.43885	0.82	P	0.59889	0.865	D	0.99019	1.0817	9	.	.	.	-17.1678	15.0195	0.71617	1.0:0.0:0.0:0.0	.	38	P49789	FHIT_HUMAN	A	38	ENSP00000418582:V38A;ENSP00000417557:V38A;ENSP00000417480:V38A;ENSP00000342087:V38A;ENSP00000418596:V38A	.	V	-	2	0	FHIT	59974909	1.000000	0.71417	0.987000	0.45799	0.095000	0.18619	7.833000	0.86765	2.285000	0.76669	0.533000	0.62120	GTG		0.542	FHIT-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351648.1	NM_002012		6	84	0	0	0	1	0	6	84					G	59999869	A	G	59999869	3	3	44	1	0	0	0	0	1	0	0	0	5877	159	6	4	346	4	FHIT	3	59999869	Missense_Mutation	SNP	A	TCGA-EJ-5494-01A-01D-1576-08	12955977	59999869	138022561	10	2345											
LIMCH1	22998	broad.mit.edu	37	chr4	41621299	41621299	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggcggacttcccatggtgaGccgaaatcagcagtgccttt	8	9	12	12	3	1	1	1	1	0	0	2	3	2	2	3	3	3	1	3	3	1	2			TCGA-EJ-5494-01A-01D-1576-08	TCGA-EJ-5494-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c8c9d3-e3d6-45ea-b448-e1143892a190	d498facd-d3ad-4e75-87a2-bea5253d9f1f	g.chr4:41621299G>A	ENST00000313860.7	+	8	831	c.777G>A	c.(775-777)gaG>gaA	p.E259E	LIMCH1_ENST00000509277.1_Silent_p.E105E|LIMCH1_ENST00000513024.1_Silent_p.E100E|LIMCH1_ENST00000512632.1_Silent_p.E259E|LIMCH1_ENST00000514096.1_Silent_p.E112E|LIMCH1_ENST00000512820.1_Silent_p.E259E|LIMCH1_ENST00000503057.1_Silent_p.E100E|LIMCH1_ENST00000509638.1_Silent_p.E100E|LIMCH1_ENST00000396595.3_Silent_p.E105E|LIMCH1_ENST00000381753.4_Silent_p.E105E|LIMCH1_ENST00000512946.1_Silent_p.E259E|LIMCH1_ENST00000508501.1_Silent_p.E259E|LIMCH1_ENST00000509454.1_Silent_p.E107E|LIMCH1_ENST00000511496.1_Silent_p.E100E	NM_014988.2	NP_055803.2	Q9UPQ0	LIMC1_HUMAN	LIM and calponin homology domains 1	259					actomyosin structure organization (GO:0031032)		zinc ion binding (GO:0008270)	p.E259E(1)|p.E100E(1)		central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(5)	41						CCCATGGTGAGCCGAAATCAG	0.547																																						ENST00000313860.7																			2	Substitution - coding silent(2)	p.E259E(1)|p.E100E(1)	prostate(2)	central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(5)	41						c.(775-777)gaG>gaA		LIM and calponin homology domains 1							150	152	151					4																	41621299		2203	4300	6503	SO:0001819	synonymous_variant	22998				actomyosin structure organization		actin binding|zinc ion binding	g.chr4:41621299G>A	AB029025	CCDS33977.1, CCDS47047.1, CCDS54763.1, CCDS54764.1, CCDS54765.1, CCDS75119.1, CCDS75121.1	4p13	2007-06-14		2008-01-09	ENSG00000064042	ENSG00000064042			29191	protein-coding gene	gene with protein product						10470851	Standard	XM_005248057		Approved	DKFZP686A01247, LIMCH1A, LMO7B	uc003gvz.4	Q9UPQ0	OTTHUMG00000160575	ENST00000313860.7:c.777G>A	4.37:g.41621299G>A						LIMCH1_ENST00000512820.1_Silent_p.E259E|LIMCH1_ENST00000509638.1_Silent_p.E100E|LIMCH1_ENST00000396595.3_Silent_p.E105E|LIMCH1_ENST00000381753.4_Silent_p.E105E|LIMCH1_ENST00000511496.1_Silent_p.E100E|LIMCH1_ENST00000512946.1_Silent_p.E259E|LIMCH1_ENST00000508501.1_Silent_p.E259E|LIMCH1_ENST00000509454.1_Silent_p.E107E|LIMCH1_ENST00000514096.1_Silent_p.E112E|LIMCH1_ENST00000509277.1_Silent_p.E105E|LIMCH1_ENST00000503057.1_Silent_p.E100E|LIMCH1_ENST00000512632.1_Silent_p.E259E|LIMCH1_ENST00000513024.1_Silent_p.E100E	p.E259E	NM_014988.2	NP_055803.2	Q9UPQ0	LIMC1_HUMAN			8	831	+			259					A8MXC3|E9PHM7|Q503B5|Q5CZB1|Q5CZB6|Q5H9S8|Q68E07|Q6PJ44|Q7Z3G5|Q8N3S9|Q8N6M2	Silent	SNP	ENST00000313860.7	37	c.777G>A	CCDS33977.1	.	.	.	.	.	.	.	.	.	.	G	1.326	-0.598209	0.03744	.	.	ENSG00000064042	ENST00000508466	.	.	.	5.59	4.74	0.60224	.	.	.	.	.	T	0.54498	0.1862	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.51896	-0.8647	4	.	.	.	-19.2104	5.6093	0.17396	0.2632:0.0:0.7368:0.0	.	.	.	.	N	94	.	.	S	+	2	0	LIMCH1	41316056	1.000000	0.71417	1.000000	0.80357	0.050000	0.14768	5.799000	0.69101	2.797000	0.96272	0.563000	0.77884	AGC		0.547	LIMCH1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000361249.2	NM_014988		18	261	0	0	0	1	0	18	261					A	41621299	G	A	41621299	2	1	44	1	0	0	0	0	0	0	0	1	8797	962	34	3		3	LIMCH1	4	41621299	Silent	SNP	G	TCGA-EJ-5494-01A-01D-1576-08		41621299	149532977	11	2346											
LRRC66	339977	broad.mit.edu	37	chr4	52861922	52861922	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atgtcatcgtagaagccctcGtttgaatacgcgttgtccag	9	12	10	10	4	1	2	1	1	0	1	4	2	2	2	2	0	2	3	2	0	4	4			TCGA-EJ-5494-01A-01D-1576-08	TCGA-EJ-5494-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c8c9d3-e3d6-45ea-b448-e1143892a190	d498facd-d3ad-4e75-87a2-bea5253d9f1f	g.chr4:52861922G>A	ENST00000343457.3	-	4	1272	c.1266C>T	c.(1264-1266)aaC>aaT	p.N422N		NM_001024611.1	NP_001019782.1	Q68CR7	LRC66_HUMAN	leucine rich repeat containing 66	422						integral component of membrane (GO:0016021)		p.N422N(1)		central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(8)|lung(34)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	58						AGAAGCCCTCGTTTGAATACG	0.537																																						ENST00000343457.3																			1	Substitution - coding silent(1)	p.N422N(1)	prostate(1)	central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(8)|lung(34)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	58						c.(1264-1266)aaC>aaT		leucine rich repeat containing 66							118	123	122					4																	52861922		2020	4175	6195	SO:0001819	synonymous_variant	339977					integral to membrane		g.chr4:52861922G>A	BC040414	CCDS43229.1	4q12	2008-08-08			ENSG00000188993	ENSG00000188993			34299	protein-coding gene	gene with protein product							Standard	XM_005265739		Approved		uc003gzi.3	Q68CR7	OTTHUMG00000160623	ENST00000343457.3:c.1266C>T	4.37:g.52861922G>A							p.N422N	NM_001024611.1	NP_001019782.1	Q68CR7	LRC66_HUMAN			4	1272	-			422						Silent	SNP	ENST00000343457.3	37	c.1266C>T	CCDS43229.1																																																																																				0.537	LRRC66-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361473.1	NM_001024611		11	168	0	0	0	1	0	11	168					A	52861922	G	A	52861922	2	1	44	1	0	0	0	0	0	0	0	1	9018	1136	40	1		1	LRRC66	4	52861922	Silent	SNP	G	TCGA-EJ-5494-01A-01D-1576-08	11240623	52861922	138292354	12	2347											
FAM198B	51313	broad.mit.edu	37	chr4	159091855	159091855	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgcgctgtccgccaagagtcGcattcttcggatgtcatctt	6	13	10	12	4	3	1	1	0	2	1	6	2	4	2	2	1	1	2	2	1	1	3			TCGA-EJ-5494-01A-01D-1576-08	TCGA-EJ-5494-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c8c9d3-e3d6-45ea-b448-e1143892a190	d498facd-d3ad-4e75-87a2-bea5253d9f1f	g.chr4:159091855G>A	ENST00000296530.8	-	2	1294	c.673C>T	c.(673-675)Cga>Tga	p.R225*	RP11-597D13.9_ENST00000503611.1_RNA|FAM198B_ENST00000589306.1_Intron|FAM198B_ENST00000592057.1_Nonsense_Mutation_p.R225*|RP11-597D13.9_ENST00000505532.1_RNA|RP11-597D13.9_ENST00000514381.1_RNA|FAM198B_ENST00000393807.5_Nonsense_Mutation_p.R225*|FAM198B_ENST00000585682.1_Nonsense_Mutation_p.R225*|RP11-597D13.9_ENST00000509463.1_RNA	NM_016613.6	NP_057697.2	Q6UWH4	F198B_HUMAN	family with sequence similarity 198, member B	225						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(14)|skin(2)|urinary_tract(1)	26						GCCAAGAGTCGCATTCTTCGG	0.647											OREG0016378	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000296530.8																			0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(14)|skin(2)|urinary_tract(1)	26						c.(673-675)Cga>Tga		family with sequence similarity 198, member B							53	58	56					4																	159091855		2203	4300	6503	SO:0001587	stop_gained	51313					Golgi membrane|integral to membrane		g.chr4:159091855G>A		CCDS3798.1, CCDS34087.1	4q32.1	2012-11-29	2009-10-19	2009-10-19	ENSG00000164125	ENSG00000164125			25312	protein-coding gene	gene with protein product			"chromosome 4 open reading frame 18"	C4orf18		12975309	Standard	NM_001031700		Approved	FLJ38155, DKFZp434L142	uc003ipr.4	Q6UWH4	OTTHUMG00000161537	ENST00000296530.8:c.673C>T	4.37:g.159091855G>A	ENSP00000296530:p.Arg225*		OREG0016378	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1798	FAM198B_ENST00000589306.1_Intron|FAM198B_ENST00000592057.1_Nonsense_Mutation_p.R225*|FAM198B_ENST00000585682.1_Nonsense_Mutation_p.R225*|FAM198B_ENST00000393807.5_Nonsense_Mutation_p.R225*	p.R225*	NM_016613.6	NP_057697.2	Q6UWH4	F198B_HUMAN			2	1294	-			225					Q498Z3|Q6IAF9|Q6ZMF2|Q86XL0	Nonsense_Mutation	SNP	ENST00000296530.8	37	c.673C>T	CCDS3798.1	.	.	.	.	.	.	.	.	.	.	G	42	9.687541	0.99238	.	.	ENSG00000164125	ENST00000337222;ENST00000296530;ENST00000393807;ENST00000417442	.	.	.	4.93	4.08	0.47627	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-5.1335	14.7089	0.69211	0.0:0.0:0.8538:0.1462	.	.	.	.	X	225	.	ENSP00000296530:R225X	R	-	1	2	FAM198B	159311305	1.000000	0.71417	0.978000	0.43139	0.813000	0.45954	3.985000	0.56930	1.277000	0.44412	-0.309000	0.09137	CGA		0.647	FAM198B-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365230.1	NM_001031700, NM_016613		4	106	0	0	0	1	0	4	106					A	159091855	G	A	159091855	4	1	44	1	0	0	0	0	0	1	0	0	5529	1095	38	1	1007	1	FAM198B	4	159091855	Nonsense_Mutation	SNP	G	TCGA-EJ-5494-01A-01D-1576-08	106229933	159091855	32062421	13	2348											
ACOT12	134526	broad.mit.edu	37	chr5	80643722	80643722	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aggtgccccttgtggaaaccGctccttcctcttcatcaaaa	9	11	7	14	1	3	0	2	0	1	0	5	1	5	1	5	2	2	1	5	2	3	3	rs533675788		TCGA-EJ-5494-01A-01D-1576-08	TCGA-EJ-5494-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c8c9d3-e3d6-45ea-b448-e1143892a190	d498facd-d3ad-4e75-87a2-bea5253d9f1f	g.chr5:80643722G>A	ENST00000307624.3	-	6	552	c.524C>T	c.(523-525)gCg>gTg	p.A175V		NM_130767.2	NP_570123.1	Q8WYK0	ACO12_HUMAN	acyl-CoA thioesterase 12	175	Acyl coenzyme A hydrolase 2.				acetyl-CoA metabolic process (GO:0006084)|acyl-CoA metabolic process (GO:0006637)|fatty acid metabolic process (GO:0006631)|pyruvate metabolic process (GO:0006090)	cytosol (GO:0005829)	acetyl-CoA hydrolase activity (GO:0003986)|ATP binding (GO:0005524)|carboxylic ester hydrolase activity (GO:0052689)|lipid binding (GO:0008289)			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)	23		Lung NSC(167;0.0176)|all_lung(232;0.0205)|Ovarian(174;0.135)		OV - Ovarian serous cystadenocarcinoma(54;1.37e-45)|Epithelial(54;1.25e-39)|all cancers(79;5.01e-34)		TGTGGAAACCGCTCCTTCCTC	0.507													G|||	1	0.000199681	0	0	5008	,	,		18006	0		0	False		,,,				2504	0.001					ENST00000307624.3																			0				cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)	23						c.(523-525)gCg>gTg		acyl-CoA thioesterase 12							211	197	202					5																	80643722		2203	4300	6503	SO:0001583	missense	134526				acyl-CoA metabolic process|fatty acid metabolic process	cytosol	acetyl-CoA hydrolase activity|carboxylesterase activity	g.chr5:80643722G>A	AB078619	CCDS4055.1	5q14.1	2011-09-13			ENSG00000172497	ENSG00000172497		"Acyl CoA thioesterases", "StAR-related lipid transfer (START) domain containing"	24436	protein-coding gene	gene with protein product	"StAR-related lipid transfer (START) domain containing 15"	614315				16103133, 16940157	Standard	NM_130767		Approved	Cach, THEAL, STARD15	uc003khl.4	Q8WYK0	OTTHUMG00000131305	ENST00000307624.3:c.524C>T	5.37:g.80643722G>A	ENSP00000303246:p.Ala175Val						p.A175V	NM_130767.2	NP_570123.1	Q8WYK0	ACO12_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;1.37e-45)|Epithelial(54;1.25e-39)|all cancers(79;5.01e-34)	6	552	-		Lung NSC(167;0.0176)|all_lung(232;0.0205)|Ovarian(174;0.135)	175			Acyl coenzyme A hydrolase 2.		B3KVK9|Q5FWE9	Missense_Mutation	SNP	ENST00000307624.3	37	c.524C>T	CCDS4055.1	.	.	.	.	.	.	.	.	.	.	G	10.23	1.293937	0.23564	.	.	ENSG00000172497	ENST00000307624	T	0.13657	2.57	5.77	-2.76	0.05896	.	0.755249	0.13153	N	0.409737	T	0.05823	0.0152	N	0.19112	0.55	0.09310	N	1	B	0.18610	0.029	B	0.09377	0.004	T	0.39418	-0.9615	10	0.18276	T	0.48	-5.272	3.7094	0.08414	0.5237:0.1105:0.2533:0.1125	.	175	Q8WYK0	ACO12_HUMAN	V	175	ENSP00000303246:A175V	ENSP00000303246:A175V	A	-	2	0	ACOT12	80679478	0.000000	0.05858	0.000000	0.03702	0.081000	0.17604	0.323000	0.19593	-0.361000	0.08125	-0.150000	0.13652	GCG		0.507	ACOT12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254074.1	NM_130767		10	399	0	0	0	1	0	10	399					A	80643722	G	A	80643722	3	1	44	1	0	0	0	0	1	0	0	0	150	1087	38	1	1183	1	ACOT12	5	80643722	Missense_Mutation	SNP	G	TCGA-EJ-5494-01A-01D-1576-08		80643722	100271538	14	2349											
PCDHA4	56144	broad.mit.edu	37	chr5	140188929	140188929	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcacgctgctgctgtacacCgcgctgcggtgctctgcgct	3	10	12	16	5	2	0	1	0	1	0	2	0	2	0	1	1	6	7	1	1	1	1			TCGA-EJ-5494-01A-01D-1576-08	TCGA-EJ-5494-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c8c9d3-e3d6-45ea-b448-e1143892a190	d498facd-d3ad-4e75-87a2-bea5253d9f1f	g.chr5:140188929C>T	ENST00000530339.1	+	1	2157	c.2157C>T	c.(2155-2157)acC>acT	p.T719T	PCDHA4_ENST00000356878.4_Silent_p.T719T|PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Silent_p.T719T	NM_018907.2	NP_061730.1	Q9UN74	PCDA4_HUMAN	protocadherin alpha 4	719					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.T719T(2)		breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(6)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGCTGTACACCGCGCTGCGGT	0.657																																						ENST00000530339.1																			2	Substitution - coding silent(2)	p.T719T(2)	prostate(2)	breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(6)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	78						c.(2155-2157)acC>acT									56	50	52					5																	140188929		2203	4300	6503	SO:0001819	synonymous_variant	0							g.chr5:140188929C>T	AF152482	CCDS54916.1	5q31	2010-11-26				ENSG00000204967		"Cadherins / Protocadherins : Clustered"	8670	other	complex locus constituent	"ortholog of mouse CNR1, KIAA0345-like 10"	606310				10380929, 10662547	Standard	NM_018907		Approved	CNR1, CRNR1, PCDH-ALPHA4, CNRN1		Q9UN74		ENST00000530339.1:c.2157C>T	5.37:g.140188929C>T						PCDHA4_ENST00000356878.4_Silent_p.T719T|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Silent_p.T719T|PCDHA1_ENST00000504120.2_Intron	p.T719T	NM_018907.2	NP_061730.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2157	+								O75285|Q2M253	Silent	SNP	ENST00000530339.1	37	c.2157C>T	CCDS54916.1																																																																																				0.657	PCDHA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372864.2	NM_018907		6	93	0	0	0	1	0	6	93					T	140188929	C	T	140188929	2	4	44	1	0	0	0	0	0	0	0	1	11526	639	23	2		2	PCDHA4	5	140188929	Silent	SNP	C	TCGA-EJ-5494-01A-01D-1576-08	59545207	140188929	40726331	15	2350											
PCDHB7	56129	broad.mit.edu	37	chr5	140554610	140554610	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcctgagggcccctttccaCgacatctggtggacttgagc	6	10	12	13	1	1	2	0	2	1	0	2	4	2	3	4	3	2	0	4	3	0	2			TCGA-EJ-5494-01A-01D-1576-08	TCGA-EJ-5494-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c8c9d3-e3d6-45ea-b448-e1143892a190	d498facd-d3ad-4e75-87a2-bea5253d9f1f	g.chr5:140554610C>T	ENST00000231137.3	+	1	2368	c.2194C>T	c.(2194-2196)Cga>Tga	p.R732*	PCDHB8_ENST00000239444.2_5'Flank	NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN	protocadherin beta 7	732					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.R732*(2)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCCCTTTCCACGACATCTGGT	0.637																																						ENST00000231137.3																			2	Substitution - Nonsense(2)	p.R732*(2)	ovary(1)|prostate(1)	NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						c.(2194-2196)Cga>Tga									83	130	114					5																	140554610		2203	4300	6503	SO:0001587	stop_gained	0				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140554610C>T	AF152500	CCDS4249.1	5q31	2010-01-26			ENSG00000113212	ENSG00000113212		"Cadherins / Protocadherins : Clustered"	8692	other	protocadherin		606333				10380929	Standard	NM_018940		Approved	PCDH-BETA7	uc003lit.3	Q9Y5E2	OTTHUMG00000129608	ENST00000231137.3:c.2194C>T	5.37:g.140554610C>T	ENSP00000231137:p.Arg732*						p.R732*	NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	2368	+			732					A1L3Y8	Nonsense_Mutation	SNP	ENST00000231137.3	37	c.2194C>T	CCDS4249.1	.	.	.	.	.	.	.	.	.	.	c	37	6.157000	0.97334	.	.	ENSG00000113212	ENST00000231137	.	.	.	4.15	3.27	0.37495	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	6.6868	0.23150	0.1353:0.1746:0.69:0.0	.	.	.	.	X	732	.	ENSP00000231137:R732X	R	+	1	2	PCDHB7	140534794	0.013000	0.17824	0.615000	0.29064	0.019000	0.09904	1.837000	0.39201	0.853000	0.35312	-0.413000	0.06143	CGA		0.637	PCDHB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251803.2	NM_018940		21	525	0	0	0	1	0	21	525					T	140554610	C	T	140554610	4	4	44	1	0	0	0	0	0	1	0	0	11547	528	19	1	2196	1	PCDHB7	5	140554610	Nonsense_Mutation	SNP	C	TCGA-EJ-5494-01A-01D-1576-08	365681	140554610	40360650	16	2351											
TFAP2D	83741	broad.mit.edu	37	chr6	50740477	50740477	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tactcacaagaacggcggagCggcggattctggccaaggac	11	5	14	11	4	2	1	1	0	1	1	2	4	2	4	1	6	3	0	1	6	4	2	rs373515669		TCGA-EJ-5494-01A-01D-1576-08	TCGA-EJ-5494-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c8c9d3-e3d6-45ea-b448-e1143892a190	d498facd-d3ad-4e75-87a2-bea5253d9f1f	g.chr6:50740477C>T	ENST00000008391.3	+	8	1487	c.1259C>T	c.(1258-1260)gCg>gTg	p.A420V		NM_172238.3	NP_758438.2			transcription factor AP-2 delta (activating enhancer binding protein 2 delta)									p.A420V(1)		NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(26)|ovary(6)|pancreas(1)|prostate(5)|stomach(1)	60	Lung NSC(77;0.0334)					AACGGCGGAGCGGCGGATTCT	0.507																																						ENST00000008391.3																			1	Substitution - Missense(1)	p.A420V(1)	prostate(1)	NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(26)|ovary(6)|pancreas(1)|prostate(5)|stomach(1)	60						c.(1258-1260)gCg>gTg		transcription factor AP-2 delta (activating enhancer binding protein 2 delta)		C	VAL/ALA	0,4406		0,0,2203	65	62	63		1259	5.3	0.9	6		63	1,8599	1.2+/-3.3	0,1,4299	no	missense	TFAP2D	NM_172238.3	64	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	420/453	50740477	1,13005	2203	4300	6503	SO:0001583	missense	83741						DNA binding|sequence-specific DNA binding transcription factor activity	g.chr6:50740477C>T	AY028376	CCDS4933.1	6p12.3	2008-02-05	2004-10-26	2004-10-27		ENSG00000008197			15581	protein-coding gene	gene with protein product		610161	"transcription factor AP-2 beta (activating enhancer-binding protein 2 beta)-like 1"	TFAP2BL1		11733187	Standard	NM_172238		Approved		uc003paf.3	Q7Z6R9		ENST00000008391.3:c.1259C>T	6.37:g.50740477C>T	ENSP00000008391:p.Ala420Val						p.A420V	NM_172238.3	NP_758438.2	Q7Z6R9	AP2D_HUMAN			8	1487	+	Lung NSC(77;0.0334)		420						Missense_Mutation	SNP	ENST00000008391.3	37	c.1259C>T	CCDS4933.1	.	.	.	.	.	.	.	.	.	.	C	12.26	1.884831	0.33255	0.0	1.16E-4	ENSG00000008197	ENST00000008391	D	0.97138	-4.26	5.31	5.31	0.75309	.	0.128171	0.52532	D	0.000075	D	0.86826	0.6026	N	0.08118	0	0.44652	D	0.997639	B	0.24092	0.097	B	0.20577	0.03	D	0.84307	0.0508	10	0.24483	T	0.36	-13.0217	12.3513	0.55151	0.0:0.9228:0.0:0.0772	.	420	Q7Z6R9	AP2D_HUMAN	V	420	ENSP00000008391:A420V	ENSP00000008391:A420V	A	+	2	0	TFAP2D	50848436	0.998000	0.40836	0.931000	0.37212	0.796000	0.44982	3.553000	0.53713	2.489000	0.83994	0.467000	0.42956	GCG		0.507	TFAP2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040881.1	NM_172238		12	73	0	0	0	1	0	12	73					T	50740477	C	T	50740477	3	4	44	1	0	0	0	0	1	0	0	0	15787	768	27	1	1289	1	TFAP2D	6	50740477	Missense_Mutation	SNP	C	TCGA-EJ-5494-01A-01D-1576-08		50740477	120374590	17	2352											
EYS	346007	broad.mit.edu	37	chr6	66204899	66204899	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcagccacttagaattaacAgtgtgcattccttttagtct	10	15	6	10	0	2	1	1	0	1	1	3	1	3	1	2	0	3	1	2	0	4	5			TCGA-EJ-5494-01A-01D-1576-08	TCGA-EJ-5494-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c8c9d3-e3d6-45ea-b448-e1143892a190	d498facd-d3ad-4e75-87a2-bea5253d9f1f	g.chr6:66204899A>C	ENST00000370621.3	-	4	931	c.405T>G	c.(403-405)acT>acG	p.T135T	EYS_ENST00000393380.2_Silent_p.T135T|EYS_ENST00000342421.5_Silent_p.T135T|EYS_ENST00000503581.1_Silent_p.T135T|EYS_ENST00000370618.3_Silent_p.T135T|EYS_ENST00000370616.2_Silent_p.T135T			Q5T1H1	EYS_HUMAN	eyes shut homolog (Drosophila)	135			T -> L (requires 2 nucleotide substitutions). {ECO:0000269|PubMed:20333770}.		detection of light stimulus involved in visual perception (GO:0050908)|skeletal muscle tissue regeneration (GO:0043403)	extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						TAGAATTAACAGTGTGCATTC	0.408																																						ENST00000503581.1																			0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						c.(403-405)acT>acG		eyes shut homolog (Drosophila)							69	62	64					6																	66204899		2203	4300	6503	SO:0001819	synonymous_variant	346007				response to stimulus|visual perception	extracellular region	calcium ion binding	g.chr6:66204899A>C		CCDS4967.1, CCDS47445.1, CCDS47446.1	6q12	2014-01-28	2008-10-20	2008-10-20	ENSG00000188107	ENSG00000188107			21555	protein-coding gene	gene with protein product		612424	"chromosome 6 open reading frame 180", "EGF-like-domain, multiple 11", "retinitis pigmentosa 25 (autosomal recessive)", "EGF-like-domain, multiple 10", "chromosome 6 open reading frame 178", "chromosome 6 open reading frame 179"	C6orf180, EGFL11, RP25, EGFL10, C6orf178, C6orf179		18836446, 18976725	Standard	NM_001142800		Approved	dJ1018A4.2, bA166P24.2, SPAM, bA307F22.3, dJ303F19.1, bA74E24.1	uc011dxu.1	Q5T1H1	OTTHUMG00000014971	ENST00000370621.3:c.405T>G	6.37:g.66204899A>C						EYS_ENST00000342421.5_Silent_p.T135T|EYS_ENST00000393380.2_Silent_p.T135T|EYS_ENST00000370616.2_Silent_p.T135T|EYS_ENST00000370618.3_Silent_p.T135T|EYS_ENST00000370621.3_Silent_p.T135T	p.T135T	NM_001142800.1	NP_001136272.1	Q5T1H1	EYS_HUMAN			4	942	-			135		T -> L (requires 2 nucleotide substitutions).			A2RUR2|A8MVE7|B7TYK8|B7UUQ3|B7ZBE7|B7ZBE8|B7ZBR3|B9ZVD2|Q5SZM4|Q5T3C8|Q5T669|Q5TEL3|Q5TEL4|Q5VVG4|Q6UY05|Q9H557|Q9NQ15	Silent	SNP	ENST00000370621.3	37	c.405T>G																																																																																					0.408	EYS-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000351351.3	XM_294050		4	110	0	0	0	1	0	4	110					C	66204899	A	C	66204899	2	2	44	1	0	0	0	0	0	0	0	1	5332	175	7	5		5	EYS	6	66204899	Silent	SNP	A	TCGA-EJ-5494-01A-01D-1576-08	15464422	66204899	104910168	18	2353											
TBX18	9096	broad.mit.edu	37	chr6	85446536	85446536	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggggcaacatctgccgatccGtcatggtcccactcggtgag	7	8	13	13	3	2	1	1	1	1	0	5	2	4	1	3	4	2	1	3	4	1	0			TCGA-EJ-5494-01A-01D-1576-08	TCGA-EJ-5494-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c8c9d3-e3d6-45ea-b448-e1143892a190	d498facd-d3ad-4e75-87a2-bea5253d9f1f	g.chr6:85446536G>A	ENST00000369663.5	-	8	2028	c.1691C>T	c.(1690-1692)aCg>aTg	p.T564M	TBX18_ENST00000606784.1_Intron	NM_001080508.1	NP_001073977.1	O95935	TBX18_HUMAN	T-box 18	564					anterior/posterior axis specification (GO:0009948)|cochlea morphogenesis (GO:0090103)|morphogenesis of embryonic epithelium (GO:0016331)|negative regulation of canonical Wnt signaling pathway involved in neural plate anterior/posterior pattern formation (GO:0060829)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of mesenchymal cell proliferation involved in ureter development (GO:2000729)|sensory perception of sound (GO:0007605)|sinoatrial node development (GO:0003163)|smooth muscle cell differentiation (GO:0051145)|somitogenesis (GO:0001756)|ureter development (GO:0072189)	nucleus (GO:0005634)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)	p.T564M(2)		NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(9)|liver(1)|lung(31)|ovary(2)|pancreas(3)|prostate(6)|skin(3)	61		all_cancers(76;0.000283)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0858)		BRCA - Breast invasive adenocarcinoma(108;0.0267)		CTGCCGATCCGTCATGGTCCC	0.527																																						ENST00000369663.5																			2	Substitution - Missense(2)	p.T564M(2)	prostate(2)	NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(9)|liver(1)|lung(31)|ovary(2)|pancreas(3)|prostate(6)|skin(3)	61						c.(1690-1692)aCg>aTg		T-box 18							58	62	61					6																	85446536		2203	4300	6503	SO:0001583	missense	9096				multicellular organismal development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr6:85446536G>A	AJ010278	CCDS34495.1	6q14.1-q15	2012-12-19			ENSG00000112837	ENSG00000112837		"T-boxes"	11595	protein-coding gene	gene with protein product		604613				9888994, 16688725, 23242162	Standard	NM_001080508		Approved		uc003pkl.2	O95935	OTTHUMG00000015129	ENST00000369663.5:c.1691C>T	6.37:g.85446536G>A	ENSP00000358677:p.Thr564Met					TBX18_ENST00000606784.1_Intron	p.T564M	NM_001080508.1	NP_001073977.1	O95935	TBX18_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0267)	8	2028	-		all_cancers(76;0.000283)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0858)	564					A2RU13|Q7Z6U4|Q9UJI6	Missense_Mutation	SNP	ENST00000369663.5	37	c.1691C>T	CCDS34495.1	.	.	.	.	.	.	.	.	.	.	G	18.20	3.572110	0.65765	.	.	ENSG00000112837	ENST00000369663	D	0.89810	-2.57	5.26	5.26	0.73747	.	0.097762	0.64402	D	0.000001	D	0.89192	0.6645	N	0.24115	0.695	0.80722	D	1	D	0.89917	1.0	D	0.78314	0.991	D	0.90752	0.4658	10	0.56958	D	0.05	.	18.8443	0.92198	0.0:0.0:1.0:0.0	.	564	O95935	TBX18_HUMAN	M	564	ENSP00000358677:T564M	ENSP00000358677:T564M	T	-	2	0	TBX18	85503255	1.000000	0.71417	0.966000	0.40874	0.618000	0.37518	7.246000	0.78247	2.453000	0.82957	0.585000	0.79938	ACG		0.527	TBX18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041378.2	NM_001080508		10	102	0	0	0	1	0	10	102					A	85446536	G	A	85446536	3	1	44	1	0	0	0	0	1	0	0	0	15650	1145	40	1	136	1	TBX18	6	85446536	Missense_Mutation	SNP	G	TCGA-EJ-5494-01A-01D-1576-08	19241637	85446536	85668531	19	2354											
CDK19	23097	broad.mit.edu	37	chr6	110948346	110948346	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tatacaacctattgcccataTatctgggaaggaagaaacat	16	10	7	8	0	1	1	0	0	1	1	1	3	1	3	2	2	4	0	2	2	9	6			TCGA-EJ-5494-01A-01D-1576-08	TCGA-EJ-5494-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c8c9d3-e3d6-45ea-b448-e1143892a190	d498facd-d3ad-4e75-87a2-bea5253d9f1f	g.chr6:110948346T>C	ENST00000368911.3	-	7	828	c.649A>G	c.(649-651)Ata>Gta	p.I217V	CDK19_ENST00000323817.3_Missense_Mutation_p.I157V|CDK19_ENST00000413605.2_Missense_Mutation_p.I93V	NM_015076.3	NP_055891.1	Q9BWU1	CDK19_HUMAN	cyclin-dependent kinase 19	217	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.						ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)	p.I217V(1)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(2)|prostate(2)|skin(1)	22						ATTGCCCATATATCTGGGAAG	0.318																																						ENST00000368911.3																			1	Substitution - Missense(1)	p.I217V(1)	prostate(1)	breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(2)|prostate(2)|skin(1)	22						c.(649-651)Ata>Gta		cyclin-dependent kinase 19							79	78	78					6																	110948346		2203	4300	6503	SO:0001583	missense	23097						ATP binding|cyclin-dependent protein kinase activity|protein binding	g.chr6:110948346T>C	AL122055	CCDS5085.1, CCDS75503.1	6q21	2011-10-25	2009-12-16	2009-12-16	ENSG00000155111	ENSG00000155111		"Cyclin-dependent kinases"	19338	protein-coding gene	gene with protein product		614720	"cyclin-dependent kinase (CDC2-like) 11", "cell division cycle 2-like 6 (CDK8-like)"	CDK11, CDC2L6		10470851, 19884882	Standard	XM_005266871		Approved	KIAA1028, bA346C16.3	uc003puh.1	Q9BWU1	OTTHUMG00000015365	ENST00000368911.3:c.649A>G	6.37:g.110948346T>C	ENSP00000357907:p.Ile217Val					CDK19_ENST00000323817.3_Missense_Mutation_p.I157V|CDK19_ENST00000413605.2_Missense_Mutation_p.I93V	p.I217V	NM_015076.3	NP_055891.1	Q9BWU1	CDK19_HUMAN			7	828	-			217			Protein kinase.		Q5JQZ7|Q5JR00|Q8TC78|Q9UPX2	Missense_Mutation	SNP	ENST00000368911.3	37	c.649A>G	CCDS5085.1	.	.	.	.	.	.	.	.	.	.	T	19.47	3.834465	0.71373	.	.	ENSG00000155111	ENST00000368911;ENST00000323817;ENST00000392576;ENST00000413605;ENST00000457688	T;T;T;T	0.63580	-0.05;-0.05;-0.05;-0.05	5.39	5.39	0.77823	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.49184	0.1542	N	0.17312	0.475	0.80722	D	1	P;P	0.44946	0.846;0.846	P;P	0.55667	0.781;0.679	T	0.52328	-0.8590	10	0.27785	T	0.31	-15.9075	15.4145	0.74956	0.0:0.0:0.0:1.0	.	93;217	B4DUB1;Q9BWU1	.;CDK19_HUMAN	V	217;157;156;93;157	ENSP00000357907:I217V;ENSP00000317665:I157V;ENSP00000410604:I93V;ENSP00000415621:I157V	ENSP00000317665:I157V	I	-	1	0	CDK19	111055039	1.000000	0.71417	1.000000	0.80357	0.737000	0.42083	7.698000	0.84413	2.049000	0.60858	0.455000	0.32223	ATA		0.318	CDK19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041804.1	NM_015076		45	80	0	0	0	1	0	45	80					C	110948346	T	C	110948346	3	2	44	1	0	0	0	0	1	0	0	0	3135	1406	49	4	887	4	CDK19	6	110948346	Missense_Mutation	SNP	T	TCGA-EJ-5494-01A-01D-1576-08	25501810	110948346	60166721	20	2355											
NEUROD6	63974	broad.mit.edu	37	chr7	31378446	31378446	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cgattctcagaatttcagaaAgtgcccagatgtagtttttg	11	14	9	7	1	2	3	2	0	1	3	3	4	2	3	1	0	1	2	1	0	3	5			TCGA-EJ-5494-01A-01D-1576-08	TCGA-EJ-5494-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c8c9d3-e3d6-45ea-b448-e1143892a190	d498facd-d3ad-4e75-87a2-bea5253d9f1f	g.chr7:31378446A>G	ENST00000297142.3	-	2	759	c.437T>C	c.(436-438)cTt>cCt	p.L146P		NM_022728.2	NP_073565.2	Q96NK8	NDF6_HUMAN	neuronal differentiation 6	146	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				cell differentiation (GO:0030154)|dentate gyrus development (GO:0021542)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)	p.L146P(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	32						AATTTCAGAAAGTGCCCAGAT	0.443																																						ENST00000297142.3																			1	Substitution - Missense(1)	p.L146P(1)	prostate(1)	breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	32						c.(436-438)cTt>cCt		neuronal differentiation 6							70	72	71					7																	31378446		2203	4300	6503	SO:0001583	missense	63974				cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr7:31378446A>G	AF248954	CCDS5434.1	7p15.1	2013-05-21	2012-02-22		ENSG00000164600	ENSG00000164600		"Basic helix-loop-helix proteins"	13804	protein-coding gene	gene with protein product		611513	"neurogenic differentiation 6"			12357074	Standard	NM_022728		Approved	Atoh2, NEX1M, Math-2, bHLHa2, Nex1	uc003tch.4	Q96NK8	OTTHUMG00000022865	ENST00000297142.3:c.437T>C	7.37:g.31378446A>G	ENSP00000297142:p.Leu146Pro						p.L146P	NM_022728.2	NP_073565.2	Q96NK8	NDF6_HUMAN			2	759	-			146			Helix-loop-helix motif.		Q548T9|Q9H3H6	Missense_Mutation	SNP	ENST00000297142.3	37	c.437T>C	CCDS5434.1	.	.	.	.	.	.	.	.	.	.	A	14.78	2.637806	0.47049	.	.	ENSG00000164600	ENST00000297142	D	0.95918	-3.85	5.25	4.1	0.47936	Helix-loop-helix DNA-binding (5);	0.119152	0.64402	D	0.000018	D	0.98273	0.9428	H	0.98048	4.135	0.80722	D	1	D	0.63046	0.992	D	0.63283	0.913	D	0.98023	1.0372	10	0.87932	D	0	-17.7651	10.911	0.47108	0.9261:0.0:0.0739:0.0	.	146	Q96NK8	NDF6_HUMAN	P	146	ENSP00000297142:L146P	ENSP00000297142:L146P	L	-	2	0	NEUROD6	31344971	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.281000	0.95811	0.844000	0.35094	0.528000	0.53228	CTT		0.443	NEUROD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215050.1	NM_022728		42	94	0	0	0	1	0	42	94					G	31378446	A	G	31378446	3	3	44	1	0	0	0	0	1	0	0	0	10351	72	3	4	580	4	NEUROD6	7	31378446	Missense_Mutation	SNP	A	TCGA-EJ-5494-01A-01D-1576-08		31378446	127760217	21	2356											
CA1	759	broad.mit.edu	37	chr8	86249177	86249177	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttactaaattacattacctcGgcagaatatttgactccatc	13	14	4	10	1	0	2	0	1	0	1	3	2	1	2	2	1	3	1	2	1	7	6			TCGA-EJ-5494-01A-01D-1576-08	TCGA-EJ-5494-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c8c9d3-e3d6-45ea-b448-e1143892a190	d498facd-d3ad-4e75-87a2-bea5253d9f1f	g.chr8:86249177G>A	ENST00000523953.1	-	5	1397	c.351C>T	c.(349-351)gcC>gcT	p.A117A	CA1_ENST00000432364.2_Silent_p.A117A|CA1_ENST00000518341.1_5'UTR|CA1_ENST00000522389.1_Intron|CA1_ENST00000523022.1_Silent_p.A117A|CA1_ENST00000256119.5_Silent_p.A117A|CA1_ENST00000542576.1_Silent_p.A117A|CA1_ENST00000431316.1_Silent_p.A117A			P00915	CAH1_HUMAN	carbonic anhydrase I	117					bicarbonate transport (GO:0015701)|one-carbon metabolic process (GO:0006730)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	carbonate dehydratase activity (GO:0004089)|zinc ion binding (GO:0008270)	p.A117A(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)	13		all_lung(136;4.89e-06)			Acetazolamide(DB00819)|Amlodipine(DB00381)|Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Brinzolamide(DB01194)|Chlorothiazide(DB00880)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Diclofenamide(DB01144)|Dorzolamide(DB00869)|Ethinamate(DB01031)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methazolamide(DB00703)|Methocarbamol(DB00423)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021)|Zonisamide(DB00909)	ACATTACCTCGGCAGAATATT	0.413																																						ENST00000523953.1																			1	Substitution - coding silent(1)	p.A117A(1)	prostate(1)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)	13						c.(349-351)gcC>gcT		carbonic anhydrase I	Acetazolamide(DB00819)|Amlodipine(DB00381)|Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Brinzolamide(DB01194)|Chlorothiazide(DB00880)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Dichlorphenamide(DB01144)|Ethinamate(DB01031)|Ethoxzolamide(DB00311)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Levetiracetam(DB01202)|Methazolamide(DB00703)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021)|Verapamil(DB00661)|Zonisamide(DB00909)						115	106	109					8																	86249177		2203	4300	6503	SO:0001819	synonymous_variant	759				one-carbon metabolic process	Golgi apparatus	carbonate dehydratase activity|zinc ion binding	g.chr8:86249177G>A	M33987	CCDS6237.1	8q21.2	2006-03-10				ENSG00000133742	4.2.1.1	"Carbonic anhydrases"	1368	protein-coding gene	gene with protein product		114800				1916821	Standard	NM_001164830		Approved	Car1	uc003ydi.3	P00915		ENST00000523953.1:c.351C>T	8.37:g.86249177G>A						CA1_ENST00000523022.1_Silent_p.A117A|CA1_ENST00000432364.2_Silent_p.A117A|CA1_ENST00000431316.1_Silent_p.A117A|CA1_ENST00000518341.1_5'UTR|CA1_ENST00000542576.1_Silent_p.A117A|CA1_ENST00000256119.5_Silent_p.A117A|CA1_ENST00000522389.1_Intron	p.A117A			P00915	CAH1_HUMAN			5	1397	-		all_lung(136;4.89e-06)	117						Silent	SNP	ENST00000523953.1	37	c.351C>T	CCDS6237.1	.	.	.	.	.	.	.	.	.	.	G	0.031	-1.333215	0.01298	.	.	ENSG00000133742	ENST00000521679	.	.	.	4.92	-0.616	0.11583	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.3383	9.0013	0.36083	0.1053:0.0:0.4224:0.4723	.	.	.	.	X	54	.	.	R	-	1	2	CA1	86436429	0.007000	0.16637	0.197000	0.23402	0.027000	0.11550	0.076000	0.14712	-0.001000	0.14495	-1.301000	0.01330	CGA		0.413	CA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381067.1	NM_001738		16	196	0	0	0	1	0	16	196					A	86249177	G	A	86249177	2	1	44	1	0	0	0	0	0	0	0	1	2510	1103	39	2		2	CA1	8	86249177	Silent	SNP	G	TCGA-EJ-5494-01A-01D-1576-08		86249177	60114845	22	2357											
CSMD3	114788	broad.mit.edu	37	chr8	113933896	113933896	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcactccaagcagcaaaaacTtcagctatccgttgacaggt	13	9	7	12	1	2	1	2	1	0	0	4	1	4	1	2	1	4	4	2	1	4	3			TCGA-EJ-5494-01A-01D-1576-08	TCGA-EJ-5494-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c8c9d3-e3d6-45ea-b448-e1143892a190	d498facd-d3ad-4e75-87a2-bea5253d9f1f	g.chr8:113933896T>G	ENST00000297405.5	-	10	1837	c.1593A>C	c.(1591-1593)gaA>gaC	p.E531D	CSMD3_ENST00000352409.3_Missense_Mutation_p.E531D|CSMD3_ENST00000343508.3_Missense_Mutation_p.E491D|CSMD3_ENST00000455883.2_Missense_Mutation_p.E427D	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	531	Sushi 2. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.E531D(1)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						CAGCAAAAACTTCAGCTATCC	0.378										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												ENST00000297405.5																			1	Substitution - Missense(1)	p.E531D(1)	large_intestine(1)	breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						c.(1591-1593)gaA>gaC		CUB and Sushi multiple domains 3							114	106	109					8																	113933896		2203	4300	6503	SO:0001583	missense	114788					integral to membrane|plasma membrane		g.chr8:113933896T>G	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.1593A>C	8.37:g.113933896T>G	ENSP00000297405:p.Glu531Asp	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_ENST00000343508.3_Missense_Mutation_p.E491D|CSMD3_ENST00000352409.3_Missense_Mutation_p.E531D|CSMD3_ENST00000455883.2_Missense_Mutation_p.E427D	p.E531D	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN			10	1837	-			531			Sushi 2.		Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	c.1593A>C	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	T	11.14	1.550027	0.27652	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000455883;ENST00000352409	T;T;T;T	0.23147	1.92;1.92;1.92;1.92	5.48	4.33	0.51752	Complement control module (2);Sushi/SCR/CCP (3);	0.000000	0.64402	D	0.000001	T	0.10423	0.0255	N	0.03999	-0.3	0.27635	N	0.947894	B;B;B	0.18166	0.009;0.022;0.026	B;B;B	0.26969	0.02;0.075;0.063	T	0.33879	-0.9851	10	0.10902	T	0.67	.	6.4763	0.22037	0.1383:0.0736:0.0:0.7881	.	427;531;491	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	D	491;531;427;531	ENSP00000345799:E491D;ENSP00000297405:E531D;ENSP00000412263:E427D;ENSP00000343124:E531D	ENSP00000297405:E531D	E	-	3	2	CSMD3	114003072	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	1.208000	0.32345	0.925000	0.37094	0.533000	0.62120	GAA		0.378	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		4	153	0	0	0	1	0	4	153					G	113933896	T	G	113933896	3	3	44	1	0	0	0	0	1	0	0	0	3946	1606	56	5	9778	5	CSMD3	8	113933896	Missense_Mutation	SNP	T	TCGA-EJ-5494-01A-01D-1576-08	27684719	113933896	32430126	23	2358											
ENPP2	5168	broad.mit.edu	37	chr8	120569893	120569893	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	accctagctgtgtgcatcttCatgagttcttctacccattt	7	16	6	12	0	4	1	1	1	3	0	4	1	4	1	2	0	3	3	2	0	2	6			TCGA-EJ-5494-01A-01D-1576-08	TCGA-EJ-5494-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c8c9d3-e3d6-45ea-b448-e1143892a190	d498facd-d3ad-4e75-87a2-bea5253d9f1f	g.chr8:120569893C>T	ENST00000075322.6	-	25	2518	c.2460G>A	c.(2458-2460)atG>atA	p.M820I	ENPP2_ENST00000522826.1_Missense_Mutation_p.M845I|ENPP2_ENST00000259486.6_Missense_Mutation_p.M872I|ENPP2_ENST00000522167.1_Missense_Mutation_p.M455I|ENPP2_ENST00000427067.2_Missense_Mutation_p.M841I	NM_001040092.2	NP_001035181.1	Q13822	ENPP2_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 2	820					cellular component movement (GO:0006928)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylcholine catabolic process (GO:0034638)|phospholipid catabolic process (GO:0009395)|regulation of cell migration (GO:0030334)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	alkylglycerophosphoethanolamine phosphodiesterase activity (GO:0047391)|calcium ion binding (GO:0005509)|hydrolase activity (GO:0016787)|lysophospholipase activity (GO:0004622)|nucleic acid binding (GO:0003676)|nucleotide diphosphatase activity (GO:0004551)|phosphodiesterase I activity (GO:0004528)|polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.M872I(2)		breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(30)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)	69	Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			TGTGCATCTTCATGAGTTCTT	0.463																																					Melanoma(20;305 879 2501 4818 31020)	ENST00000427067.2																			2	Substitution - Missense(2)	p.M872I(2)	prostate(2)	breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(30)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)	69						c.(2521-2523)atG>atA		ectonucleotide pyrophosphatase/phosphodiesterase 2							208	187	194					8																	120569893		2203	4300	6503	SO:0001583	missense	0				cellular component movement|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|phosphate metabolic process|phosphatidylcholine catabolic process|regulation of cell migration	extracellular space|integral to plasma membrane	alkylglycerophosphoethanolamine phosphodiesterase activity|calcium ion binding|lysophospholipase activity|nucleic acid binding|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity|transcription factor binding|zinc ion binding	g.chr8:120569893C>T	D45421	CCDS6329.1, CCDS34936.1, CCDS47914.1	8q24.12	2014-04-09	2008-08-01		ENSG00000136960	ENSG00000136960	3.1.4.1, 3.6.1.9		3357	protein-coding gene	gene with protein product	"autotaxin"	601060		PDNP2		8586446	Standard	NM_001040092		Approved	ATX, PD-IALPHA	uc003yos.2	Q13822	OTTHUMG00000164995	ENST00000075322.6:c.2460G>A	8.37:g.120569893C>T	ENSP00000075322:p.Met820Ile					ENPP2_ENST00000259486.6_Missense_Mutation_p.M872I|ENPP2_ENST00000522826.1_Missense_Mutation_p.M845I|ENPP2_ENST00000522167.1_Missense_Mutation_p.M455I|ENPP2_ENST00000075322.6_Missense_Mutation_p.M820I	p.M841I			Q13822	ENPP2_HUMAN	STAD - Stomach adenocarcinoma(47;0.00185)		26	2703	-	Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		820			Required for secretion (By similarity).		A8UHA1|E9PHP7|Q13827|Q14555|Q15117|Q9UCQ8|Q9UCR0|Q9UCR1|Q9UCR2|Q9UCR3|Q9UCR4	Missense_Mutation	SNP	ENST00000075322.6	37	c.2523G>A	CCDS34936.1	.	.	.	.	.	.	.	.	.	.	C	14.46	2.543152	0.45280	.	.	ENSG00000136960	ENST00000259486;ENST00000427067;ENST00000522167;ENST00000522826;ENST00000075322	T;T;T;T;T	0.26518	1.73;1.73;1.73;1.73;1.73	5.91	-9.18	0.00688	DNA/RNA non-specific endonuclease (2);Extracellular Endonuclease, subunit A (2);	0.357143	0.34853	N	0.003634	T	0.08133	0.0203	N	0.12182	0.205	0.43698	D	0.996155	B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0	B;B;B;B;B	0.06405	0.002;0.001;0.001;0.001;0.002	T	0.12091	-1.0561	10	0.42905	T	0.14	.	3.9898	0.09532	0.187:0.3603:0.3448:0.1079	.	358;845;820;872;455	B4DJD3;E9PHP7;Q13822;Q13822-2;E5RIA2	.;.;ENPP2_HUMAN;.;.	I	872;841;455;845;820	ENSP00000259486:M872I;ENSP00000403315:M841I;ENSP00000429476:M455I;ENSP00000428291:M845I;ENSP00000075322:M820I	ENSP00000075322:M820I	M	-	3	0	ENPP2	120639074	0.528000	0.26314	0.687000	0.30102	0.984000	0.73092	-0.161000	0.10026	-1.617000	0.01570	-0.136000	0.14681	ATG		0.463	ENPP2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000381390.1			7	228	0	0	0	1	0	7	228					T	120569893	C	T	120569893	3	4	44	1	0	0	0	0	1	0	0	0	5130	826	29	3	135	3	ENPP2	8	120569893	Missense_Mutation	SNP	C	TCGA-EJ-5494-01A-01D-1576-08	6635997	120569893	25794129	24	2359											
WNK2	65268	broad.mit.edu	37	chr9	96021252	96021252	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgccccccatcacgcccctgGcgggaatcgacggcctccct	5	6	10	20	4	1	0	1	0	0	0	3	2	2	1	7	3	1	0	7	3	1	0			TCGA-EJ-5494-01A-01D-1576-08	TCGA-EJ-5494-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c8c9d3-e3d6-45ea-b448-e1143892a190	d498facd-d3ad-4e75-87a2-bea5253d9f1f	g.chr9:96021252G>A	ENST00000297954.4	+	11	2422	c.2422G>A	c.(2422-2424)Gcg>Acg	p.A808T	WNK2_ENST00000395475.2_Missense_Mutation_p.A742T|WNK2_ENST00000395477.2_Missense_Mutation_p.A808T|WNK2_ENST00000349097.3_Missense_Mutation_p.A420T|WNK2_ENST00000356055.3_5'UTR|WNK2_ENST00000427277.2_Missense_Mutation_p.A420T	NM_001282394.1	NP_001269323.1	Q9Y3S1	WNK2_HUMAN	WNK lysine deficient protein kinase 2	808					intracellular signal transduction (GO:0035556)|negative regulation of cell proliferation (GO:0008285)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of ion homeostasis (GO:2000021)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(1)|endometrium(11)|kidney(4)|large_intestine(5)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)	54						CACGCCCCTGGCGGGAATCGA	0.652																																						ENST00000297954.4																			0				breast(2)|central_nervous_system(1)|endometrium(11)|kidney(4)|large_intestine(5)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)	54						c.(2422-2424)Gcg>Acg		WNK lysine deficient protein kinase 2							34	38	36					9																	96021252		2202	4299	6501	SO:0001583	missense	65268				intracellular protein kinase cascade		ATP binding|protein binding|protein serine/threonine kinase activity	g.chr9:96021252G>A	AJ242724	CCDS75858.1	9q22.3	2008-02-05	2003-06-23	2005-01-22	ENSG00000165238	ENSG00000165238			14542	protein-coding gene	gene with protein product		606249	"serologically defined colon cancer antigen 43"	SDCCAG43, PRKWNK2		9610721, 11571656	Standard	NM_006648		Approved	NY-CO-43, KIAA1760	uc004atj.3	Q9Y3S1	OTTHUMG00000020247	ENST00000297954.4:c.2422G>A	9.37:g.96021252G>A	ENSP00000297954:p.Ala808Thr					WNK2_ENST00000395477.2_Missense_Mutation_p.A808T|WNK2_ENST00000349097.3_Missense_Mutation_p.A420T|WNK2_ENST00000427277.2_Missense_Mutation_p.A420T|WNK2_ENST00000356055.3_5'UTR|WNK2_ENST00000395475.2_Missense_Mutation_p.A742T	p.A808T			Q9Y3S1	WNK2_HUMAN			11	2422	+			808					Q5VWF1|Q5VWF2|Q8IY36|Q9C0A3|Q9H3P4	Missense_Mutation	SNP	ENST00000297954.4	37	c.2422G>A		.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	G|G|G	10.54|10.54|10.54	1.378354|1.378354|1.378354	0.24944|0.24944|0.24944	.|.|.	.|.|.	ENSG00000165238|ENSG00000165238|ENSG00000165238	ENST00000448039;ENST00000297954;ENST00000395477;ENST00000395475;ENST00000349097;ENST00000427277|ENST00000411624|ENST00000432730	T;T;T;T;T;T|.|.	0.71222|.|.	-0.55;-0.5;-0.49;-0.55;0.08;0.11|.|.	5.01|5.01|5.01	3.14|3.14|3.14	0.36123|0.36123|0.36123	.|.|.	0.503590|.|.	0.20050|.|.	N|.|.	0.100337|.|.	T|T|.	0.41743|0.41743|.	0.1172|0.1172|.	N|N|N	0.24115|0.24115|0.24115	0.695|0.695|0.695	0.80722|0.80722|0.80722	D|D|D	1|1|1	B;B;B;B;B|.|.	0.21071|.|.	0.01;0.005;0.051;0.01;0.012|.|.	B;B;B;B;B|.|.	0.14578|.|.	0.011;0.006;0.01;0.011;0.01|.|.	T|T|.	0.10660|0.10660|.	-1.0620|-1.0620|.	10|5|.	0.46703|.|.	T|.|.	0.11|.|.	.|.|.	9.8635|9.8635|9.8635	0.41129|0.41129|0.41129	0.2264:0.0:0.7736:0.0|0.2264:0.0:0.7736:0.0|0.2264:0.0:0.7736:0.0	.|.|.	808;808;411;808;808|.|.	Q9Y3S1-2;Q9Y3S1-4;A6PVR4;F8W9F9;Q9Y3S1|.|.	.;.;.;.;WNK2_HUMAN|.|.	T|D|X	756;808;808;742;420;420|411|803	ENSP00000412465:A756T;ENSP00000297954:A808T;ENSP00000378860:A808T;ENSP00000378858:A742T;ENSP00000297876:A420T;ENSP00000411181:A420T|.|.	ENSP00000297954:A808T|.|.	A|G|W	+|+|+	1|2|3	0|0|0	WNK2|WNK2|WNK2	95061073|95061073|95061073	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	0.246000|0.246000|0.246000	0.24233|0.24233|0.24233	0.133000|0.133000|0.133000	0.20885|0.20885|0.20885	2.860000|2.860000|2.860000	0.48372|0.48372|0.48372	0.491000|0.491000|0.491000	0.27793|0.27793|0.27793	0.462000|0.462000|0.462000	0.41574|0.41574|0.41574	GCG|GGC|TGG		0.652	WNK2-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000317359.1	NM_006648		3	67	0	0	0	1	0	3	67					A	96021252	G	A	96021252	3	1	44	1	0	0	0	0	1	0	0	0	17375	1203	42	3	2464	3	WNK2	9	96021252	Missense_Mutation	SNP	G	TCGA-EJ-5494-01A-01D-1576-08		96021252	45192179	25	2360											
CRB2	286204	broad.mit.edu	37	chr9	126132707	126132707	+	Missense_Mutation	SNP	C	C	A																															cagtgccagctggtggccccCtgggtctggcactgaggttt																										TCGA-EJ-5494-01A-01D-1576-08	TCGA-EJ-5494-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c8c9d3-e3d6-45ea-b448-e1143892a190	d498facd-d3ad-4e75-87a2-bea5253d9f1f	g.chr9:126132707C>A	ENST00000373631.3	+	7	1376	c.1375C>A	c.(1375-1377)Ctg>Atg	p.L459M	CRB2_ENST00000373629.2_Missense_Mutation_p.L127M|CRB2_ENST00000359999.3_Missense_Mutation_p.L459M	NM_173689.5	NP_775960.4	Q5IJ48	CRUM2_HUMAN	crumbs family member 2	459	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cardiovascular system development (GO:0072358)|maintenance of epithelial cell apical/basal polarity (GO:0045199)|mesoderm formation (GO:0001707)|negative regulation of endopeptidase activity (GO:0010951)|notochord formation (GO:0014028)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|somitogenesis (GO:0001756)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	calcium ion binding (GO:0005509)|enzyme binding (GO:0019899)	p.L459M(1)		NS(2)|breast(1)|cervix(1)|endometrium(2)|lung(11)|ovary(1)|prostate(2)|skin(3)	23						TGGTGGCCCCCTGGGTCTGGC	0.617																																						ENST00000373631.3																			1	Substitution - Missense(1)	p.L459M(1)	prostate(1)	NS(2)|breast(1)|cervix(1)|endometrium(2)|lung(11)|ovary(1)|prostate(2)|skin(3)	23						c.(1375-1377)Ctg>Atg		crumbs homolog 2 (Drosophila)							42	42	42					9																	126132707		2203	4300	6503	SO:0001583	missense	286204					extracellular region|integral to membrane|plasma membrane	calcium ion binding	g.chr9:126132707C>A	AK095783	CCDS6852.2	9q33.2	2014-02-06	2014-02-06		ENSG00000148204	ENSG00000148204			18688	protein-coding gene	gene with protein product		609720	"crumbs homolog 2 (Drosophila)"			14767562	Standard	XM_005251934		Approved	FLJ38464, FLJ16786	uc004bnx.1	Q5IJ48	OTTHUMG00000020638	ENST00000373631.3:c.1375C>A	9.37:g.126132707C>A	ENSP00000362734:p.Leu459Met					CRB2_ENST00000359999.3_Missense_Mutation_p.L459M|CRB2_ENST00000373629.2_Missense_Mutation_p.L127M	p.L459M	NM_173689.5	NP_775960.4	Q5IJ48	CRUM2_HUMAN			7	1376	+			459			Laminin G-like 1.		A2A3N4|Q0QD46|Q5JS41|Q5JS43|Q6ZTA9|Q6ZWI6	Missense_Mutation	SNP	ENST00000373631.3	37	c.1375C>A	CCDS6852.2	.	.	.	.	.	.	.	.	.	.	C	12.35	1.910788	0.33721	.	.	ENSG00000148204	ENST00000359999;ENST00000373631;ENST00000373629	T;T;T	0.80393	-1.37;-0.14;-1.37	4.64	1.69	0.24217	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);	0.724329	0.11310	N	0.577202	T	0.72447	0.3461	M	0.73962	2.25	0.09310	N	1	B;B	0.33171	0.278;0.4	B;B	0.26969	0.034;0.075	T	0.60974	-0.7156	10	0.35671	T	0.21	.	1.2275	0.01936	0.1383:0.3853:0.1529:0.3235	.	459;459	Q5IJ48;Q5IJ48-2	CRUM2_HUMAN;.	M	459;459;127	ENSP00000353092:L459M;ENSP00000362734:L459M;ENSP00000362732:L127M	ENSP00000353092:L459M	L	+	1	2	CRB2	125172528	0.000000	0.05858	0.392000	0.26245	0.789000	0.44602	-0.183000	0.09712	0.129000	0.18514	0.448000	0.29417	CTG		0.617	CRB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053990.3	NM_173689		5	56	1	0	8.12818e-05	1	8.81701e-05	5	56					A	126132707	C	A	126132707	3	1	44	1	0	0	0	0	1	0	0	0	3849	680	24	5	1401	5	CRB2	9	126132707	Missense_Mutation	SNP	C	TCGA-EJ-5494-01A-01D-1576-08	30111455	126132707	15080724	26	2361	16	2									
CRB2	286204	broad.mit.edu	37	chr9	126132708	126132708	+	Missense_Mutation	SNP	T	T	A																															agtgccagctggtggcccccTgggtctggcactgaggtttc																										TCGA-EJ-5494-01A-01D-1576-08	TCGA-EJ-5494-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c8c9d3-e3d6-45ea-b448-e1143892a190	d498facd-d3ad-4e75-87a2-bea5253d9f1f	g.chr9:126132708T>A	ENST00000373631.3	+	7	1377	c.1376T>A	c.(1375-1377)cTg>cAg	p.L459Q	CRB2_ENST00000373629.2_Missense_Mutation_p.L127Q|CRB2_ENST00000359999.3_Missense_Mutation_p.L459Q	NM_173689.5	NP_775960.4	Q5IJ48	CRUM2_HUMAN	crumbs family member 2	459	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cardiovascular system development (GO:0072358)|maintenance of epithelial cell apical/basal polarity (GO:0045199)|mesoderm formation (GO:0001707)|negative regulation of endopeptidase activity (GO:0010951)|notochord formation (GO:0014028)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|somitogenesis (GO:0001756)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	calcium ion binding (GO:0005509)|enzyme binding (GO:0019899)	p.L459Q(1)		NS(2)|breast(1)|cervix(1)|endometrium(2)|lung(11)|ovary(1)|prostate(2)|skin(3)	23						GGTGGCCCCCTGGGTCTGGCA	0.612																																						ENST00000373631.3																			1	Substitution - Missense(1)	p.L459Q(1)	prostate(1)	NS(2)|breast(1)|cervix(1)|endometrium(2)|lung(11)|ovary(1)|prostate(2)|skin(3)	23						c.(1375-1377)cTg>cAg		crumbs homolog 2 (Drosophila)							42	42	42					9																	126132708		2203	4300	6503	SO:0001583	missense	286204					extracellular region|integral to membrane|plasma membrane	calcium ion binding	g.chr9:126132708T>A	AK095783	CCDS6852.2	9q33.2	2014-02-06	2014-02-06		ENSG00000148204	ENSG00000148204			18688	protein-coding gene	gene with protein product		609720	"crumbs homolog 2 (Drosophila)"			14767562	Standard	XM_005251934		Approved	FLJ38464, FLJ16786	uc004bnx.1	Q5IJ48	OTTHUMG00000020638	ENST00000373631.3:c.1376T>A	9.37:g.126132708T>A	ENSP00000362734:p.Leu459Gln					CRB2_ENST00000359999.3_Missense_Mutation_p.L459Q|CRB2_ENST00000373629.2_Missense_Mutation_p.L127Q	p.L459Q	NM_173689.5	NP_775960.4	Q5IJ48	CRUM2_HUMAN			7	1377	+			459			Laminin G-like 1.		A2A3N4|Q0QD46|Q5JS41|Q5JS43|Q6ZTA9|Q6ZWI6	Missense_Mutation	SNP	ENST00000373631.3	37	c.1376T>A	CCDS6852.2	.	.	.	.	.	.	.	.	.	.	T	13.53	2.264395	0.39995	.	.	ENSG00000148204	ENST00000359999;ENST00000373631;ENST00000373629	T;T;T	0.80738	-1.41;-0.16;-1.41	4.94	-0.691	0.11305	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);	0.724329	0.11310	N	0.577202	T	0.71169	0.3308	M	0.61703	1.905	0.09310	N	1	B;B	0.33171	0.278;0.4	B;B	0.30855	0.057;0.121	T	0.57046	-0.7878	10	0.28530	T	0.3	.	4.8869	0.13708	0.1591:0.4579:0.0:0.3829	.	459;459	Q5IJ48;Q5IJ48-2	CRUM2_HUMAN;.	Q	459;459;127	ENSP00000353092:L459Q;ENSP00000362734:L459Q;ENSP00000362732:L127Q	ENSP00000353092:L459Q	L	+	2	0	CRB2	125172529	0.002000	0.14202	0.399000	0.26333	0.812000	0.45895	0.741000	0.26202	0.221000	0.20879	0.368000	0.22195	CTG		0.612	CRB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053990.3	NM_173689		5	55	0	0	0	1	0	5	55					A	126132708	T	A	126132708	3	1	44	1	0	0	0	0	1	0	0	0	3849	1580	55	5	1402	5	CRB2	9	126132708	Missense_Mutation	SNP	T	TCGA-EJ-5494-01A-01D-1576-08	1	126132708	15080723	27	2362	16	2									
SH3GLB2	56904	broad.mit.edu	37	chr9	131772101	131772101	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggcggtagcactgtgcgtagTaggttgtctgagacttgacg	7	11	16	7	3	1	2	0	2	1	1	1	3	1	2	0	3	2	5	0	3	3	5			TCGA-EJ-5494-01A-01D-1576-08	TCGA-EJ-5494-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c8c9d3-e3d6-45ea-b448-e1143892a190	d498facd-d3ad-4e75-87a2-bea5253d9f1f	g.chr9:131772101T>C	ENST00000372564.3	-	9	933	c.788A>G	c.(787-789)tAc>tGc	p.Y263C	SH3GLB2_ENST00000372554.4_Missense_Mutation_p.Y267C|SH3GLB2_ENST00000417224.1_Missense_Mutation_p.Y263C|SH3GLB2_ENST00000372559.1_Missense_Mutation_p.Y263C|SH3GLB2_ENST00000416629.1_Missense_Mutation_p.Y242C	NM_020145.2	NP_064530.1	Q9NR46	SHLB2_HUMAN	SH3-domain GRB2-like endophilin B2	263	BAR. {ECO:0000255|PROSITE- ProRule:PRU00361}.					cytoplasm (GO:0005737)		p.Y263C(1)		NS(1)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(1)|prostate(1)	12						CTGTGCGTAGTAGGTTGTCTG	0.622																																						ENST00000372564.3																			1	Substitution - Missense(1)	p.Y263C(1)	prostate(1)	NS(1)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(1)|prostate(1)	12						c.(787-789)tAc>tGc		SH3-domain GRB2-like endophilin B2							73	66	69					9																	131772101		2203	4300	6503	SO:0001583	missense	56904				filopodium assembly|signal transduction	cytoplasm|nucleus	cytoskeletal adaptor activity|SH3 domain binding	g.chr9:131772101T>C	AF257319	CCDS6916.1, CCDS69680.1	9q34	2008-02-05	2001-12-04		ENSG00000148341	ENSG00000148341			10834	protein-coding gene	gene with protein product		609288	"SH3-domain, GRB2-like, endophilin B2"			11161816	Standard	NM_020145		Approved	KIAA1848	uc004bwv.3	Q9NR46	OTTHUMG00000020769	ENST00000372564.3:c.788A>G	9.37:g.131772101T>C	ENSP00000361645:p.Tyr263Cys					SH3GLB2_ENST00000417224.1_Missense_Mutation_p.Y263C|SH3GLB2_ENST00000416629.1_Missense_Mutation_p.Y242C|SH3GLB2_ENST00000372554.4_Missense_Mutation_p.Y267C|SH3GLB2_ENST00000372559.1_Missense_Mutation_p.Y263C	p.Y263C	NM_020145.2	NP_064530.1	Q9NR46	SHLB2_HUMAN			9	933	-			263			BAR.		A6NC47|A8MPS4|Q8WY61|Q96JH9	Missense_Mutation	SNP	ENST00000372564.3	37	c.788A>G	CCDS6916.1	.	.	.	.	.	.	.	.	.	.	T	26.8	4.771913	0.90108	.	.	ENSG00000148341	ENST00000372564;ENST00000372559;ENST00000543311;ENST00000372554;ENST00000417224;ENST00000416629	T;T;T;T;T	0.57436	0.4;0.4;0.4;0.4;0.4	5.38	5.38	0.77491	BAR (3);	0.122386	0.56097	D	0.000023	T	0.74275	0.3695	M	0.83953	2.67	0.80722	D	1	D;D	0.76494	0.998;0.999	D;D	0.76575	0.937;0.988	T	0.78924	-0.2012	10	0.87932	D	0	-9.3897	14.8814	0.70537	0.0:0.0:0.0:1.0	.	267;263	Q9NR46-2;Q9NR46	.;SHLB2_HUMAN	C	263;263;267;267;263;242	ENSP00000361645:Y263C;ENSP00000361640:Y263C;ENSP00000361634:Y267C;ENSP00000402566:Y263C;ENSP00000388282:Y242C	ENSP00000361634:Y267C	Y	-	2	0	SH3GLB2	130811922	1.000000	0.71417	0.955000	0.39395	0.933000	0.57130	6.105000	0.71505	2.166000	0.68216	0.528000	0.53228	TAC		0.622	SH3GLB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054535.2			9	13	0	0	0	1	0	9	13					C	131772101	T	C	131772101	3	2	44	1	0	0	0	0	1	0	0	0	14254	1638	57	4	411	4	SH3GLB2	9	131772101	Missense_Mutation	SNP	T	TCGA-EJ-5494-01A-01D-1576-08	5639393	131772101	9441330	28	2363											
CUL2	8453	broad.mit.edu	37	chr10	35351967	35351967	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ctccaaggggttcaggatagGccacacataaagcatagata	15	7	10	9	0	1	1	1	0	0	1	2	2	2	2	2	4	1	2	2	4	6	5			TCGA-EJ-5494-01A-01D-1576-08	TCGA-EJ-5494-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c8c9d3-e3d6-45ea-b448-e1143892a190	d498facd-d3ad-4e75-87a2-bea5253d9f1f	g.chr10:35351967G>A	ENST00000374748.1	-	4	456	c.143C>T	c.(142-144)gCc>gTc	p.A48V	CUL2_ENST00000374749.3_Missense_Mutation_p.A48V|CUL2_ENST00000602371.1_Missense_Mutation_p.P6S|CUL2_ENST00000537177.1_Missense_Mutation_p.A67V|CUL2_ENST00000374742.1_Missense_Mutation_p.A48V|CUL2_ENST00000374746.1_Missense_Mutation_p.A48V|CUL2_ENST00000478044.1_5'Flank|CUL2_ENST00000374751.3_Missense_Mutation_p.A48V			Q13617	CUL2_HUMAN	cullin 2	48					cell cycle arrest (GO:0007050)|cellular response to hypoxia (GO:0071456)|G1/S transition of mitotic cell cycle (GO:0000082)|intrinsic apoptotic signaling pathway (GO:0097193)|negative regulation of cell proliferation (GO:0008285)|protein ubiquitination (GO:0016567)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	Cul2-RING ubiquitin ligase complex (GO:0031462)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|VCB complex (GO:0030891)	ubiquitin protein ligase binding (GO:0031625)	p.A48V(1)		breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|prostate(2)|skin(1)|urinary_tract(2)	31						TTCAGGATAGGCCACACATAA	0.313																																						ENST00000374748.1																			1	Substitution - Missense(1)	p.A48V(1)	prostate(1)	breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|prostate(2)|skin(1)|urinary_tract(2)	31						c.(142-144)gCc>gTc		cullin 2							70	70	70					10																	35351967		2203	4300	6503	SO:0001583	missense	8453				cell cycle arrest|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex	ubiquitin protein ligase binding	g.chr10:35351967G>A	U83410	CCDS7179.1, CCDS73086.1	10p11.2	2011-05-24			ENSG00000108094	ENSG00000108094			2552	protein-coding gene	gene with protein product		603135				8681378	Standard	NM_003591		Approved		uc021ppa.1	Q13617	OTTHUMG00000017950	ENST00000374748.1:c.143C>T	10.37:g.35351967G>A	ENSP00000363880:p.Ala48Val					CUL2_ENST00000374749.3_Missense_Mutation_p.A48V|CUL2_ENST00000374746.1_Missense_Mutation_p.A48V|CUL2_ENST00000602371.1_Missense_Mutation_p.P6S|CUL2_ENST00000374742.1_Missense_Mutation_p.A48V|CUL2_ENST00000374751.3_Missense_Mutation_p.A48V|CUL2_ENST00000537177.1_Missense_Mutation_p.A67V	p.A48V			Q13617	CUL2_HUMAN			4	456	-			48					B3KT95|B7Z6K8|D3DRY6|G3V1S2|O00200|Q5T2B6|Q9UNF9	Missense_Mutation	SNP	ENST00000374748.1	37	c.143C>T	CCDS7179.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	29.5|29.5	5.012338|5.012338	0.93346|0.93346	.|.	.|.	ENSG00000108094|ENSG00000108094	ENST00000374751;ENST00000374748;ENST00000374746;ENST00000374749;ENST00000374742;ENST00000537177;ENST00000421317|ENST00000374754	T;T;T;T;T;T;T|.	0.30448|.	1.53;1.53;1.53;1.53;1.53;1.53;1.53|.	5.64|5.64	4.73|4.73	0.59995|0.59995	Cullin, N-terminal (1);Cullin repeat-like-containing domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.75258|0.75258	0.3825|0.3825	M|M	0.72479|0.72479	2.2|2.2	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	1.0;1.0;1.0|.	D;D;D|.	0.85130|.	0.997;0.995;0.997|.	T|T	0.78560|0.78560	-0.2157|-0.2157	10|6	0.87932|0.66056	D|D	0|0.02	-8.0568|-8.0568	16.6175|16.6175	0.84920|0.84920	0.0:0.1302:0.8698:0.0|0.0:0.1302:0.8698:0.0	.|.	48;67;48|.	Q5T2B5;G3V1S2;Q13617|.	.;.;CUL2_HUMAN|.	V|S	48;48;48;48;48;67;48|6	ENSP00000363883:A48V;ENSP00000363880:A48V;ENSP00000363878:A48V;ENSP00000363881:A48V;ENSP00000363874:A48V;ENSP00000444856:A67V;ENSP00000414095:A48V|.	ENSP00000363874:A48V|ENSP00000363886:P6S	A|P	-|-	2|1	0|0	CUL2|CUL2	35391973|35391973	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	9.756000|9.756000	0.98918|0.98918	1.378000|1.378000	0.46305|0.46305	0.655000|0.655000	0.94253|0.94253	GCC|CCT		0.313	CUL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047538.1	NM_003591		11	118	0	0	0	1	0	11	118					A	35351967	G	A	35351967	3	1	44	1	0	0	0	0	1	0	0	0	4055	1203	42	3	2170	3	CUL2	10	35351967	Missense_Mutation	SNP	G	TCGA-EJ-5494-01A-01D-1576-08		35351967	100182780	29	2364											
MUC5B	727897	broad.mit.edu	37	chr11	1268402	1268402	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cacacctgcagccaccagcaGcacagtgactccctcctctg	9	6	7	19	0	1	1	0	1	1	0	3	1	3	1	5	0	4	3	5	0	0	0			TCGA-EJ-5494-01A-01D-1576-08	TCGA-EJ-5494-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c8c9d3-e3d6-45ea-b448-e1143892a190	d498facd-d3ad-4e75-87a2-bea5253d9f1f	g.chr11:1268402G>A	ENST00000529681.1	+	31	10350	c.10292G>A	c.(10291-10293)aGc>aAc	p.S3431N	RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000447027.1_Missense_Mutation_p.S3434N	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	3431	17 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.			Missing (in Ref. 6; AAB61398). {ECO:0000305}.	cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)		p.S3410N(1)		cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		gccaccagcagcacAGTGACT	0.682																																						ENST00000447027.1																			1	Substitution - Missense(1)	p.S3410N(1)	prostate(1)	cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137						c.(10300-10302)aGc>aAc		mucin 5B, oligomeric mucus/gel-forming							41	76	64					11																	1268402		2093	4144	6237	SO:0001583	missense	727897				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	g.chr11:1268402G>A	U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"Mucins"	7516	protein-coding gene	gene with protein product		600770	"mucin 5, subtype B, tracheobronchial"	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.10292G>A	11.37:g.1268402G>A	ENSP00000436812:p.Ser3431Asn					MUC5B_ENST00000529681.1_Missense_Mutation_p.S3431N|RP11-532E4.2_ENST00000532061.2_RNA	p.S3434N			Q9HC84	MUC5B_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)	31	10359	+		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	3431	Missing (in Ref. 6; AAB61398).		17 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.		O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Missense_Mutation	SNP	ENST00000529681.1	37	c.10301G>A	CCDS44515.2	.	.	.	.	.	.	.	.	.	.	G	3.121	-0.180464	0.06380	.	.	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637	T;T	0.20598	2.06;2.24	2.38	-2.65	0.06095	.	.	.	.	.	T	0.11965	0.0291	L	0.29908	0.895	0.09310	N	1	B	0.11235	0.004	B	0.01281	0.0	T	0.31888	-0.9927	9	0.87932	D	0	.	2.2793	0.04110	0.1745:0.3567:0.3457:0.1231	.	3434	E9PBJ0	.	N	3431;3434;3403	ENSP00000436812:S3431N;ENSP00000415793:S3434N	ENSP00000343037:S3403N	S	+	2	0	MUC5B	1224978	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.426000	0.02443	-0.630000	0.05567	-0.714000	0.03626	AGC		0.682	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093		2	3	0	0	0	1	0	2	3					A	1268402	G	A	1268402	3	1	44	1	0	0	0	0	1	0	0	0	9979	971	34	3	10423	3	MUC5B	11	1268402	Missense_Mutation	SNP	G	TCGA-EJ-5494-01A-01D-1576-08		1268402	133738114	30	2365											
OR5D16	390144	broad.mit.edu	37	chr11	55606581	55606581	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	actgaattaattctatttgcGgtgatggcctatgaccactt	10	15	8	8	1	1	3	0	3	1	0	1	3	1	3	2	2	1	0	2	2	4	6	rs139231893	byFrequency	TCGA-EJ-5494-01A-01D-1576-08	TCGA-EJ-5494-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c8c9d3-e3d6-45ea-b448-e1143892a190	d498facd-d3ad-4e75-87a2-bea5253d9f1f	g.chr11:55606581G>A	ENST00000378396.1	+	1	354	c.354G>A	c.(352-354)gcG>gcA	p.A118A		NM_001005496.1	NP_001005496.1	Q8NGK9	OR5DG_HUMAN	olfactory receptor, family 5, subfamily D, member 16	118						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A118A(2)		cervix(1)|endometrium(2)|large_intestine(4)|lung(26)|ovary(5)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	44		all_epithelial(135;0.208)				TTCTATTTGCGGTGATGGCCT	0.423																																						ENST00000378396.1																			2	Substitution - coding silent(2)	p.A118A(2)	prostate(1)|lung(1)	cervix(1)|endometrium(2)|large_intestine(4)|lung(26)|ovary(5)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	44						c.(352-354)gcG>gcA		olfactory receptor, family 5, subfamily D, member 16		G		1,4401		0,1,2200	126	121	122		354	-1.2	0	11	dbSNP_134	122	4,8588		0,4,4292	no	coding-synonymous	OR5D16	NM_001005496.1		0,5,6492	AA,AG,GG		0.0466,0.0227,0.0385		118/329	55606581	5,12989	2201	4296	6497	SO:0001819	synonymous_variant	390144				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55606581G>A	AB065783	CCDS31512.1	11q11	2012-08-09			ENSG00000205029	ENSG00000205029		"GPCR / Class A : Olfactory receptors"	15283	protein-coding gene	gene with protein product							Standard	NM_001005496		Approved		uc010rio.2	Q8NGK9	OTTHUMG00000154233	ENST00000378396.1:c.354G>A	11.37:g.55606581G>A							p.A118A	NM_001005496.1	NP_001005496.1	Q8NGK9	OR5DG_HUMAN			1	354	+		all_epithelial(135;0.208)	118					Q6IF65|Q96RB4	Silent	SNP	ENST00000378396.1	37	c.354G>A	CCDS31512.1																																																																																				0.423	OR5D16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334506.1	NM_001005496		7	305	0	0	0	1	0	7	305					A	55606581	G	A	55606581	2	1	44	1	0	0	0	0	0	0	0	1	11156	1103	39	2		2	OR5D16	11	55606581	Silent	SNP	G	TCGA-EJ-5494-01A-01D-1576-08	54338179	55606581	79399935	31	2366											
RTN3	10313	broad.mit.edu	37	chr11	63488086	63488086	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tccggtggttctgaaattaaAgacattggaagcaaatacag	15	10	10	6	1	1	2	0	1	1	1	2	3	2	3	1	3	2	2	1	3	6	4			TCGA-EJ-5494-01A-01D-1576-08	TCGA-EJ-5494-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c8c9d3-e3d6-45ea-b448-e1143892a190	d498facd-d3ad-4e75-87a2-bea5253d9f1f	g.chr11:63488086A>G	ENST00000377819.5	+	3	2266	c.2112A>G	c.(2110-2112)aaA>aaG	p.K704K	RTN3_ENST00000540798.1_Silent_p.K592K|RTN3_ENST00000341307.2_Intron|RTN3_ENST00000537981.1_Intron|RTN3_ENST00000356000.3_Intron|RTN3_ENST00000354497.4_Intron|RTN3_ENST00000339997.4_Silent_p.K685K	NM_001265589.1	NP_001252518.1	O95197	RTN3_HUMAN	reticulon 3	704					apoptotic process (GO:0006915)|endoplasmic reticulum tubular network organization (GO:0071786)|response to stress (GO:0006950)|vesicle-mediated transport (GO:0016192)|viral process (GO:0016032)	endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	20						CTGAAATTAAAGACATTGGAA	0.388																																						ENST00000377819.5																			0				cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	20						c.(2110-2112)aaA>aaG		reticulon 3							52	53	53					11																	63488086		2201	4298	6499	SO:0001819	synonymous_variant	10313				apoptosis|endoplasmic reticulum tubular network organization|interspecies interaction between organisms|response to stress|vesicle-mediated transport	endoplasmic reticulum membrane|extracellular space|Golgi membrane|integral to membrane		g.chr11:63488086A>G	AF059524	CCDS8048.1, CCDS8049.1, CCDS8050.1, CCDS41664.1, CCDS58141.1, CCDS58142.1, CCDS58143.1	11q13	2011-01-14			ENSG00000133318	ENSG00000133318			10469	protein-coding gene	gene with protein product	"neuroendocrine-specific protein-like 2", "NSP-like protein II", "isoforme III", "ASY interacting protein", "homolog of ASY protein"	604249				10331947	Standard	NM_006054		Approved	NSPL2, NSPLII, ASYIP, HAP, RTN3-A1	uc001nxq.3	O95197		ENST00000377819.5:c.2112A>G	11.37:g.63488086A>G						RTN3_ENST00000540798.1_Silent_p.K592K|RTN3_ENST00000354497.4_Intron|RTN3_ENST00000537981.1_Intron|RTN3_ENST00000356000.3_Intron|RTN3_ENST00000339997.4_Silent_p.K685K|RTN3_ENST00000341307.2_Intron	p.K704K	NM_001265589.1	NP_001252518.1	O95197	RTN3_HUMAN			3	2266	+			704					B3KQS2|B7Z308|B7Z4M0|F5H774|Q147U9|Q496K2|Q53GN3|Q59EP0|Q5UEP2|Q6T930|Q7RTM7|Q7RTM8|Q7RTN3	Silent	SNP	ENST00000377819.5	37	c.2112A>G	CCDS58141.1																																																																																				0.388	RTN3-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000397846.1	NM_006054		3	96	0	0	0	1	0	3	96					G	63488086	A	G	63488086	2	3	44	1	0	0	0	0	0	0	0	1	13727	69	3	4		4	RTN3	11	63488086	Silent	SNP	A	TCGA-EJ-5494-01A-01D-1576-08	7881505	63488086	71518430	32	2367											
MEN1	4221	broad.mit.edu	37	chr11	64572284	64572284	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcactatgcgcaccttctgcCgcacctgggccagtggggag	6	8	13	14	2	2	0	1	0	1	0	2	1	2	1	4	3	2	2	4	3	1	2			TCGA-EJ-5494-01A-01D-1576-08	TCGA-EJ-5494-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c8c9d3-e3d6-45ea-b448-e1143892a190	d498facd-d3ad-4e75-87a2-bea5253d9f1f	g.chr11:64572284C>T	ENST00000337652.1	-	10	1873	c.1370G>A	c.(1369-1371)cGg>cAg	p.R457Q	MEN1_ENST00000312049.6_Missense_Mutation_p.R452Q|MAP4K2_ENST00000294066.2_5'Flank|MEN1_ENST00000377326.3_Missense_Mutation_p.R452Q|MAP4K2_ENST00000468062.1_5'Flank|MEN1_ENST00000377316.2_Missense_Mutation_p.R397Q|MEN1_ENST00000315422.4_Missense_Mutation_p.R452Q|MAP4K2_ENST00000377350.3_5'Flank|MEN1_ENST00000394374.2_Missense_Mutation_p.R457Q|MEN1_ENST00000394376.1_Missense_Mutation_p.R457Q|MEN1_ENST00000478548.1_5'UTR|MEN1_ENST00000377313.1_Missense_Mutation_p.R457Q|MEN1_ENST00000443283.1_Missense_Mutation_p.R457Q|MEN1_ENST00000377321.1_Missense_Mutation_p.R417Q	NM_130803.2	NP_570715	O00255	MEN1_HUMAN	multiple endocrine neoplasia I	457					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|chromatin remodeling (GO:0006338)|DNA repair (GO:0006281)|embryonic skeletal system morphogenesis (GO:0048704)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|histone lysine methylation (GO:0034968)|leukocyte homeostasis (GO:0001776)|MAPK cascade (GO:0000165)|maternal process involved in female pregnancy (GO:0060135)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of JNK cascade (GO:0046329)|negative regulation of organ growth (GO:0046621)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of telomerase activity (GO:0051974)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|osteoblast development (GO:0002076)|osteoblast fate commitment (GO:0002051)|palate development (GO:0060021)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell division (GO:0051781)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of histone methylation (GO:0031062)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein binding (GO:0032092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of activin receptor signaling pathway (GO:0032925)|response to gamma radiation (GO:0010332)|response to UV (GO:0009411)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	chromatin (GO:0000785)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|histone methyltransferase complex (GO:0035097)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|four-way junction DNA binding (GO:0000400)|protein binding, bridging (GO:0030674)|protein N-terminus binding (GO:0047485)|R-SMAD binding (GO:0070412)|sequence-specific DNA binding (GO:0043565)|transcription regulatory region DNA binding (GO:0044212)|Y-form DNA binding (GO:0000403)	p.R452Q(1)		NS(7)|adrenal_gland(5)|breast(2)|central_nervous_system(5)|endometrium(1)|gastrointestinal_tract_(site_indeterminate)(15)|large_intestine(2)|lung(21)|ovary(1)|pancreas(64)|parathyroid(181)|pituitary(7)|prostate(4)|retroperitoneum(1)|skin(1)|small_intestine(13)|soft_tissue(4)|stomach(1)|thymus(2)	337						CACCTTCTGCCGCACCTGGGC	0.726			"D, Mis, N, F, S"		"parathyroid tumors, Pancreatic neuroendocrine tumors"	"parathyroid adenoma, pituitary adenoma, pancreatic islet cell, carcinoid"			Multiple Endocrine Neoplasia, type 1;Hyperparathyroidism, Familial Isolated																												Esophageal Squamous(1;83 158 15500 18603 18803 29295)	ENST00000337652.1			yes	Rec	yes	Multiple Endocrine Neoplasia Type 1	11	11q13	4221	"D, Mis, N, F, S"	multiple endocrine neoplasia type 1 gene			E		"parathyroid adenoma, pituitary adenoma, pancreatic islet cell, carcinoid"	"parathyroid tumors, Pancreatic neuroendocrine tumors"		1	Substitution - Missense(1)	p.R452Q(1)	prostate(1)	NS(7)|adrenal_gland(5)|breast(2)|central_nervous_system(5)|endometrium(1)|gastrointestinal_tract_(site_indeterminate)(15)|large_intestine(2)|lung(21)|ovary(1)|pancreas(64)|parathyroid(181)|pituitary(7)|prostate(4)|retroperitoneum(1)|skin(1)|small_intestine(13)|soft_tissue(4)|stomach(1)|thymus(2)	337						c.(1369-1371)cGg>cAg		multiple endocrine neoplasia I							43	49	47					11																	64572284		2040	4052	6092	SO:0001583	missense	0	Multiple Endocrine Neoplasia, type 1;Hyperparathyroidism, Familial Isolated	Familial Cancer Database	MEN1, Wermer disease;FIHP, FIHPT, HRPT1, Familial Isolated Primary Hyperparathyroidism	DNA repair|histone lysine methylation|MAPKKK cascade|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|negative regulation of JNK cascade|negative regulation of osteoblast differentiation|negative regulation of protein phosphorylation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of telomerase activity|negative regulation of transcription from RNA polymerase II promoter|osteoblast development|positive regulation of protein binding|positive regulation of transforming growth factor beta receptor signaling pathway|response to gamma radiation|response to UV|transcription, DNA-dependent	chromatin|cleavage furrow|cytosol|histone methyltransferase complex|nuclear matrix|soluble fraction	double-stranded DNA binding|four-way junction DNA binding|protein binding, bridging|protein N-terminus binding|R-SMAD binding|transcription regulatory region DNA binding|Y-form DNA binding	g.chr11:64572284C>T	U93236	CCDS8083.1, CCDS31600.1	11q13	2014-09-17			ENSG00000133895	ENSG00000133895			7010	protein-coding gene	gene with protein product	"menin"	613733					Standard	NM_130799		Approved		uc001obn.3	O00255	OTTHUMG00000045366	ENST00000337652.1:c.1370G>A	11.37:g.64572284C>T	ENSP00000337088:p.Arg457Gln					MEN1_ENST00000377326.3_Missense_Mutation_p.R452Q|MEN1_ENST00000394376.1_Missense_Mutation_p.R457Q|MEN1_ENST00000377316.2_Missense_Mutation_p.R397Q|MEN1_ENST00000377313.1_Missense_Mutation_p.R457Q|MEN1_ENST00000377321.1_Missense_Mutation_p.R417Q|MEN1_ENST00000443283.1_Missense_Mutation_p.R457Q|MEN1_ENST00000478548.1_5'UTR|MEN1_ENST00000315422.4_Missense_Mutation_p.R452Q|MEN1_ENST00000312049.6_Missense_Mutation_p.R452Q|MEN1_ENST00000394374.2_Missense_Mutation_p.R457Q	p.R457Q	NM_130803.2	NP_570715.1	O00255	MEN1_HUMAN			10	1873	-			457					A5HBC6|A5HBC7|A5HBC8|A5HBC9|A5HBD0|A5HBD1|A5HBD2|O00632|Q9BUF0|Q9BUK2	Missense_Mutation	SNP	ENST00000337652.1	37	c.1370G>A	CCDS8083.1	.	.	.	.	.	.	.	.	.	.	C	35	5.421058	0.96111	.	.	ENSG00000133895	ENST00000377316;ENST00000377321;ENST00000377326;ENST00000312049;ENST00000315422;ENST00000337652;ENST00000394376;ENST00000394374;ENST00000443283;ENST00000377313	D;D;D;D;D;D;D;D;D;D	0.99680	-6.38;-6.38;-6.38;-6.38;-6.38;-6.38;-6.38;-6.38;-6.38;-6.38	4.54	4.54	0.55810	.	0.000000	0.85682	D	0.000000	D	0.99539	0.9835	M	0.69358	2.11	0.80722	D	1	D;D;D	0.89917	1.0;0.994;1.0	D;D;D	0.97110	0.999;0.979;1.0	D	0.97818	1.0255	10	0.87932	D	0	-28.0058	13.2231	0.59899	0.0:1.0:0.0:0.0	.	452;417;457	O00255-2;O00255-3;O00255	.;.;MEN1_HUMAN	Q	397;417;452;452;452;457;457;457;457;457	ENSP00000366533:R397Q;ENSP00000366538:R417Q;ENSP00000366543:R452Q;ENSP00000308975:R452Q;ENSP00000323747:R452Q;ENSP00000337088:R457Q;ENSP00000377901:R457Q;ENSP00000377899:R457Q;ENSP00000396940:R457Q;ENSP00000366530:R457Q	ENSP00000308975:R452Q	R	-	2	0	MEN1	64328860	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	4.457000	0.60088	2.257000	0.74773	0.456000	0.33151	CGG		0.726	MEN1-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000143881.1			21	119	0	0	0	1	0	21	119					T	64572284	C	T	64572284	3	4	44	1	0	0	0	0	1	0	0	0	9472	652	23	2	481	2	MEN1	11	64572284	Missense_Mutation	SNP	C	TCGA-EJ-5494-01A-01D-1576-08	1084198	64572284	70434232	33	2368											
LEPREL2	10536	broad.mit.edu	37	chr12	6943175	6943175	+	RNA	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggtgttggatgggctgctcAccccagccgagtgtggggtg	4	9	18	10	2	1	0	1	0	0	0	1	2	1	1	3	5	2	3	3	5	0	1			TCGA-EJ-5494-01A-01D-1576-08	TCGA-EJ-5494-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c8c9d3-e3d6-45ea-b448-e1143892a190	d498facd-d3ad-4e75-87a2-bea5253d9f1f	g.chr12:6943175A>C	ENST00000538102.1	+	0	570				LEPREL2_ENST00000396725.2_RNA|LEPREL2_ENST00000606935.1_RNA|LEPREL2_ENST00000251761.8_RNA			Q8IVL6	P3H3_HUMAN	leprecan-like 2						extracellular matrix organization (GO:0030198)|negative regulation of cell proliferation (GO:0008285)	endoplasmic reticulum lumen (GO:0005788)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|procollagen-proline 3-dioxygenase activity (GO:0019797)			breast(1)|cervix(1)|endometrium(2)|lung(6)	10					L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	TGGGCTGCTCACCCCAGCCGA	0.582																																						ENST00000251761.8																			0				breast(1)|cervix(1)|endometrium(2)|lung(6)	10								leprecan-like 2							64	73	70					12																	6943175		2036	4197	6233			10536							g.chr12:6943175A>C	U47926	CCDS61027.1	12p13.31	2014-03-25			ENSG00000110811	ENSG00000110811			19318	protein-coding gene	gene with protein product	"prolyl 3-hydroxylase 3"	610342				15063763	Standard	NM_014262		Approved	GRCB, HSU47926, P3H3		Q8IVL6	OTTHUMG00000168516		12.37:g.6943175A>C						LEPREL2_ENST00000538102.1_RNA|LEPREL2_ENST00000606935.1_RNA|LEPREL2_ENST00000396725.2_RNA		NM_014262.3	NP_055077.2					0	1453	+								Q13512|Q15740|Q66K32|Q6NX61|Q7L2T1	RNA	SNP	ENST00000538102.1	37			.	.	.	.	.	.	.	.	.	.	A	20.8	4.057177	0.76074	.	.	ENSG00000110811	ENST00000396725;ENST00000290510	T;T	0.69040	-0.37;-0.37	4.72	4.72	0.59763	Prolyl 4-hydroxylase, alpha subunit (1);	0.162937	0.53938	D	0.000053	T	0.78220	0.4249	.	.	.	0.42842	D	0.994051	D	0.63880	0.993	P	0.59288	0.855	T	0.82232	-0.0559	9	0.87932	D	0	-19.5111	14.3584	0.66752	1.0:0.0:0.0:0.0	.	474	Q8IVL6	P3H3_HUMAN	P	473;289	ENSP00000379951:T473P;ENSP00000290510:T289P	ENSP00000290510:T289P	T	+	1	0	LEPREL2	6813436	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.752000	0.62176	1.975000	0.57531	0.459000	0.35465	ACC		0.582	LEPREL2-006	KNOWN	basic	processed_transcript	polymorphic_pseudogene	OTTHUMT00000399998.1	NM_014262		8	63	0	0	0	1	0	8	63					C	6943175	A	C	6943175	1	2	44	0	1	0	0	0	0	0	0	0	8731	159	6	5		5	LEPREL2	12	6943175	RNA	SNP	A	TCGA-EJ-5494-01A-01D-1576-08		6943175	126908720	34	2369											
KRT1	3848	broad.mit.edu	37	chr12	53071120	53071120	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cttgctctggtacaaggactCggcctcagctttgctcttct	5	14	9	13	1	4	0	1	0	3	0	5	1	4	1	1	3	4	4	1	3	2	4			TCGA-EJ-5494-01A-01D-1576-08	TCGA-EJ-5494-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c8c9d3-e3d6-45ea-b448-e1143892a190	d498facd-d3ad-4e75-87a2-bea5253d9f1f	g.chr12:53071120C>T	ENST00000252244.3	-	5	1166	c.1108G>A	c.(1108-1110)Gag>Aag	p.E370K		NM_006121.3	NP_006112.3	P04264	K2C1_HUMAN	keratin 1	370	Coil 2.|Rod.				complement activation, lectin pathway (GO:0001867)|establishment of skin barrier (GO:0061436)|fibrinolysis (GO:0042730)|negative regulation of inflammatory response (GO:0050728)|regulation of angiogenesis (GO:0045765)|response to oxidative stress (GO:0006979)|retina homeostasis (GO:0001895)	blood microparticle (GO:0072562)|cytoskeleton (GO:0005856)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)|structural molecule activity (GO:0005198)	p.E370K(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(7)|skin(3)	39						TACAAGGACTCGGCCTCAGCT	0.522																																						ENST00000252244.3																			1	Substitution - Missense(1)	p.E370K(1)	prostate(1)	breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(7)|skin(3)	39						c.(1108-1110)Gag>Aag		keratin 1							118	108	111					12																	53071120		2203	4300	6503	SO:0001583	missense	3848				complement activation, lectin pathway|epidermis development|fibrinolysis|regulation of angiogenesis|response to oxidative stress	plasma membrane	protein binding|receptor activity|structural constituent of cytoskeleton|sugar binding	g.chr12:53071120C>T	X69725	CCDS8836.1	12q13.13	2014-06-05	2008-08-01		ENSG00000167768	ENSG00000167768		"-", "Intermediate filaments type II, keratins (basic)"	6412	protein-coding gene	gene with protein product		139350	"epidermolytic hyperkeratosis 1"	EHK1		2461420, 2470667, 16831889	Standard	NM_006121		Approved	KRT1A	uc001sau.1	P04264	OTTHUMG00000169749	ENST00000252244.3:c.1108G>A	12.37:g.53071120C>T	ENSP00000252244:p.Glu370Lys						p.E370K	NM_006121.3	NP_006112.3	P04264	K2C1_HUMAN			5	1166	-			370			Coil 2.|Rod.		B2RA01|P85925|P86104|Q14720|Q6GSJ0|Q9H298	Missense_Mutation	SNP	ENST00000252244.3	37	c.1108G>A	CCDS8836.1	.	.	.	.	.	.	.	.	.	.	C	23.7	4.450722	0.84101	.	.	ENSG00000167768	ENST00000252244	D	0.93763	-3.28	5.11	5.11	0.69529	Filament (1);	.	.	.	.	D	0.97898	0.9309	H	0.98005	4.125	0.43499	D	0.995748	D	0.89917	1.0	D	0.87578	0.998	D	0.98561	1.0641	9	0.72032	D	0.01	.	13.254	0.60068	0.0:0.9228:0.0:0.0772	.	370	P04264	K2C1_HUMAN	K	370	ENSP00000252244:E370K	ENSP00000252244:E370K	E	-	1	0	KRT1	51357387	1.000000	0.71417	0.472000	0.27241	0.787000	0.44495	4.932000	0.63476	2.551000	0.86045	0.484000	0.47621	GAG		0.522	KRT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405706.1	NM_006121		9	125	0	0	0	1	0	9	125					T	53071120	C	T	53071120	3	4	44	1	0	0	0	0	1	0	0	0	8447	893	31	2	846	2	KRT1	12	53071120	Missense_Mutation	SNP	C	TCGA-EJ-5494-01A-01D-1576-08	46127945	53071120	80780775	35	2370											
CUX2	23316	broad.mit.edu	37	chr12	111652018	111652018	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttccagaaggagcttaattcCgtcgcttctgagctgtctgc	7	13	10	11	2	2	2	0	1	2	1	5	3	4	3	2	1	3	3	2	1	2	4			TCGA-EJ-5494-01A-01D-1576-08	TCGA-EJ-5494-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c8c9d3-e3d6-45ea-b448-e1143892a190	d498facd-d3ad-4e75-87a2-bea5253d9f1f	g.chr12:111652018C>T	ENST00000261726.6	+	2	232	c.78C>T	c.(76-78)tcC>tcT	p.S26S		NM_015267.3	NP_056082.2	O14529	CUX2_HUMAN	cut-like homeobox 2	26					cellular response to organic substance (GO:0071310)|cognition (GO:0050890)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of gene expression (GO:0010628)|positive regulation of synapse assembly (GO:0051965)|short-term memory (GO:0007614)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding (GO:0043565)	p.S26S(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						AGCTTAATTCCGTCGCTTCTG	0.353																																						ENST00000261726.6																			1	Substitution - coding silent(1)	p.S26S(1)	prostate(1)	NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						c.(76-78)tcC>tcT		cut-like homeobox 2							51	51	51					12																	111652018		1806	4077	5883	SO:0001819	synonymous_variant	23316					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr12:111652018C>T	AB006631	CCDS41837.1	12q24.12	2011-06-20	2007-11-07	2007-11-07	ENSG00000111249	ENSG00000111249		"Homeoboxes / CUT class"	19347	protein-coding gene	gene with protein product		610648	"cut-like 2 (Drosophila)"	CUTL2			Standard	NM_015267		Approved	KIAA0293, CDP2	uc001tsa.2	O14529	OTTHUMG00000169546	ENST00000261726.6:c.78C>T	12.37:g.111652018C>T							p.S26S	NM_015267.3	NP_056082.2	O14529	CUX2_HUMAN			2	232	+			26					A7E2Y4	Silent	SNP	ENST00000261726.6	37	c.78C>T	CCDS41837.1																																																																																				0.353	CUX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404765.1	NM_015267		7	130	0	0	0	1	0	7	130					T	111652018	C	T	111652018	2	4	44	1	0	0	0	0	0	0	0	1	4065	639	23	2		2	CUX2	12	111652018	Silent	SNP	C	TCGA-EJ-5494-01A-01D-1576-08	58580898	111652018	22199877	36	2371											
ACADS	35	broad.mit.edu	37	chr12	121176678	121176678	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcccggctgctgacctggcGcgctgccatgctgaaggata	6	8	14	13	3	0	2	0	2	0	0	0	3	0	3	3	3	4	4	3	3	2	1	rs199633532		TCGA-EJ-5494-01A-01D-1576-08	TCGA-EJ-5494-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c8c9d3-e3d6-45ea-b448-e1143892a190	d498facd-d3ad-4e75-87a2-bea5253d9f1f	g.chr12:121176678G>A	ENST00000242592.4	+	8	1140	c.989G>A	c.(988-990)cGc>cAc	p.R330H	RP11-173P15.7_ENST00000542620.1_RNA|ACADS_ENST00000411593.2_Missense_Mutation_p.R326H	NM_000017.2	NP_000008.1	P16219	ACADS_HUMAN	acyl-CoA dehydrogenase, C-2 to C-3 short chain	330					butyrate catabolic process (GO:0046359)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|fatty acid beta-oxidation using acyl-CoA dehydrogenase (GO:0033539)|protein homotetramerization (GO:0051289)|response to glucocorticoid (GO:0051384)|response to starvation (GO:0042594)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	acyl-CoA dehydrogenase activity (GO:0003995)|butyryl-CoA dehydrogenase activity (GO:0004085)|fatty-acyl-CoA binding (GO:0000062)|flavin adenine dinucleotide binding (GO:0050660)	p.R330H(2)		central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(3)	14	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)	Lung NSC(355;0.163)			Flavin adenine dinucleotide(DB03147)	CTGACCTGGCGCGCTGCCATG	0.642													G|||	1	0.000199681	0	0	5008	,	,		17348	0		0.001	False		,,,				2504	0					ENST00000242592.4																			2	Substitution - Missense(2)	p.R330H(2)	prostate(1)|kidney(1)	central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(3)	14	GRCh37	CM067634	ACADS	M		c.(988-990)cGc>cAc		acyl-CoA dehydrogenase, C-2 to C-3 short chain	NADH(DB00157)						46	52	50					12																	121176678		2203	4300	6503	SO:0001583	missense	35					mitochondrial matrix	butyryl-CoA dehydrogenase activity	g.chr12:121176678G>A	M26393	CCDS9207.1	12q24.31	2012-07-13	2010-04-30		ENSG00000122971	ENSG00000122971	1.3.8.1		90	protein-coding gene	gene with protein product		606885	"acyl-Coenzyme A dehydrogenase, C-2 to C-3 short chain"			2565344	Standard	NM_000017		Approved	SCAD, ACAD3	uc001tza.4	P16219	OTTHUMG00000169203	ENST00000242592.4:c.989G>A	12.37:g.121176678G>A	ENSP00000242592:p.Arg330His					ACADS_ENST00000411593.2_Missense_Mutation_p.R326H	p.R330H	NM_000017.2	NP_000008.1	P16219	ACADS_HUMAN			8	1140	+	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)	Lung NSC(355;0.163)	330					P78331	Missense_Mutation	SNP	ENST00000242592.4	37	c.989G>A	CCDS9207.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.357217	0.82243	.	.	ENSG00000122971	ENST00000242592;ENST00000411593	D;D	0.96619	-4.07;-4.07	4.63	4.63	0.57726	Acyl-CoA dehydrogenase/oxidase C-terminal (2);Acyl-CoA oxidase/dehydrogenase, type 1 (1);	0.053187	0.64402	D	0.000001	D	0.96694	0.8921	L	0.33792	1.035	0.58432	D	0.999993	D;P;P	0.89917	1.0;0.737;0.737	D;B;B	0.80764	0.994;0.14;0.14	D	0.97682	1.0173	10	0.62326	D	0.03	.	17.5068	0.87748	0.0:0.0:1.0:0.0	.	326;330;330	E9PE82;E5KSD5;P16219	.;.;ACADS_HUMAN	H	330;326	ENSP00000242592:R330H;ENSP00000401045:R326H	ENSP00000242592:R330H	R	+	2	0	ACADS	119661061	1.000000	0.71417	0.916000	0.36221	0.916000	0.54674	7.185000	0.77714	2.125000	0.65367	0.561000	0.74099	CGC		0.642	ACADS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402861.1	NM_000017		5	113	0	0	0	1	0	5	113					A	121176678	G	A	121176678	3	1	44	1	0	0	0	0	1	0	0	0	114	1087	38	1	1019	1	ACADS	12	121176678	Missense_Mutation	SNP	G	TCGA-EJ-5494-01A-01D-1576-08	9524660	121176678	12675217	37	2372											
RIMBP2	23504	broad.mit.edu	37	chr12	130935764	130935764	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gactcagatctgcatcttgcGctaccggatctcgacaggaa	10	9	10	12	3	4	1	1	0	3	1	5	5	4	3	1	2	3	2	1	2	2	2			TCGA-EJ-5494-01A-01D-1576-08	TCGA-EJ-5494-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c8c9d3-e3d6-45ea-b448-e1143892a190	d498facd-d3ad-4e75-87a2-bea5253d9f1f	g.chr12:130935764G>A	ENST00000261655.4	-	5	592	c.429C>T	c.(427-429)agC>agT	p.S143S	RIMBP2_ENST00000535703.1_Silent_p.S51S|RIMBP2_ENST00000536002.1_Silent_p.S51S	NM_015347.4	NP_056162.4	O15034	RIMB2_HUMAN	RIMS binding protein 2	143					negative regulation of phosphatase activity (GO:0010923)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|synapse (GO:0045202)		p.S143S(1)		NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		TGCATCTTGCGCTACCGGATC	0.637																																						ENST00000261655.4																			1	Substitution - coding silent(1)	p.S143S(1)	prostate(1)	NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96						c.(427-429)agC>agT		RIMS binding protein 2							66	61	63					12																	130935764		2203	4300	6503	SO:0001819	synonymous_variant	23504					cell junction|synapse		g.chr12:130935764G>A	AB002316	CCDS31925.1	12q24.33	2014-06-13				ENSG00000060709			30339	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 133"	611602				10748113	Standard	NM_015347		Approved	KIAA0318, RBP2, MGC15831, RIM-BP2, PPP1R133	uc001uil.2	O15034		ENST00000261655.4:c.429C>T	12.37:g.130935764G>A						RIMBP2_ENST00000536002.1_Silent_p.S51S|RIMBP2_ENST00000535703.1_Silent_p.S51S	p.S143S	NM_015347.4	NP_056162.4	O15034	RIMB2_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)	5	592	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)	143					Q96ID2	Silent	SNP	ENST00000261655.4	37	c.429C>T	CCDS31925.1																																																																																				0.637	RIMBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399520.1	NM_015347		5	80	0	0	0	1	0	5	80					A	130935764	G	A	130935764	2	1	44	1	0	0	0	0	0	0	0	1	13363	1078	38	1		1	RIMBP2	12	130935764	Silent	SNP	G	TCGA-EJ-5494-01A-01D-1576-08	9759086	130935764	2916131	38	2373											
FOXA1	3169	broad.mit.edu	37	chr14	38060572	38060572	+	Nonstop_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	accccccagtcccgggagctAggaagtgtttaggacgggtc	8	7	14	12	2	0	0	0	0	0	0	2	3	1	3	4	4	1	2	4	4	3	3			TCGA-EJ-5494-01A-01D-1576-08	TCGA-EJ-5494-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c8c9d3-e3d6-45ea-b448-e1143892a190	d498facd-d3ad-4e75-87a2-bea5253d9f1f	g.chr14:38060572A>C	ENST00000250448.2	-	2	1478	c.1417T>G	c.(1417-1419)Tag>Gag	p.*473E	FOXA1_ENST00000545425.2_5'UTR|FOXA1_ENST00000540786.1_Nonstop_Mutation_p.*440E	NM_004496.3	NP_004487.2	P55317	FOXA1_HUMAN	forkhead box A1	0					anatomical structure formation involved in morphogenesis (GO:0048646)|chromatin remodeling (GO:0006338)|dorsal/ventral neural tube patterning (GO:0021904)|epithelial cell maturation involved in prostate gland development (GO:0060743)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|epithelial-mesenchymal signaling involved in prostate gland development (GO:0060738)|glucose homeostasis (GO:0042593)|hormone metabolic process (GO:0042445)|lung epithelial cell differentiation (GO:0060487)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron fate specification (GO:0048665)|positive regulation of cell-cell adhesion mediated by cadherin (GO:2000049)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prostate gland epithelium morphogenesis (GO:0060740)|prostate gland stromal morphogenesis (GO:0060741)|response to estradiol (GO:0032355)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)	microvillus (GO:0005902)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)	p.*473E(1)		breast(1)|endometrium(1)|large_intestine(2)|lung(3)|prostate(12)	19	Breast(36;0.0954)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		Lung(238;5.41e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0454)|LUSC - Lung squamous cell carcinoma(13;0.0917)|all cancers(34;0.0925)|BRCA - Breast invasive adenocarcinoma(188;0.239)	GBM - Glioblastoma multiforme(112;0.0222)		CCCGGGAGCTAGGAAGTGTTT	0.562																																						ENST00000250448.2																			1	Nonstop extension(1)	p.*473E(1)	prostate(1)	breast(1)|endometrium(1)|large_intestine(2)|lung(3)|prostate(12)	19						c.(1417-1419)Tag>Gag		forkhead box A1							36	42	40					14																	38060572		2198	4292	6490	SO:0001578	stop_lost	3169				chromatin remodeling|embryo development|epithelial cell maturation involved in prostate gland development|epithelial tube branching involved in lung morphogenesis|epithelial-mesenchymal signaling involved in prostate gland development|glucose homeostasis|lung epithelial cell differentiation|negative regulation of survival gene product expression|neuron fate specification|pattern specification process|positive regulation of estrogen receptor signaling pathway|positive regulation of mitotic cell cycle|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|prostate gland epithelium morphogenesis|prostate gland stromal morphogenesis|response to estradiol stimulus|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development	transcription factor complex	DNA bending activity|double-stranded DNA binding|protein domain specific binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding	g.chr14:38060572A>C	U39840	CCDS9665.1	14q12-q13	2008-04-10		2002-09-20	ENSG00000129514	ENSG00000129514		"Forkhead boxes"	5021	protein-coding gene	gene with protein product		602294	"hepatocyte nuclear factor 3, alpha"	HNF3A		9119385, 8652662	Standard	NM_004496		Approved		uc001wuf.4	P55317	OTTHUMG00000140253	ENST00000250448.2:c.1417T>G	14.37:g.38060572A>C	ENSP00000250448:p.*473Glnext*34					FOXA1_ENST00000545425.2_5'UTR|FOXA1_ENST00000540786.1_Nonstop_Mutation_p.*440E	p.*473E	NM_004496.3	NP_004487.2	P55317	FOXA1_HUMAN	Lung(238;5.41e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0454)|LUSC - Lung squamous cell carcinoma(13;0.0917)|all cancers(34;0.0925)|BRCA - Breast invasive adenocarcinoma(188;0.239)	GBM - Glioblastoma multiforme(112;0.0222)	2	1478	-	Breast(36;0.0954)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		0					B2R9H6|B7ZAP5|Q9H2A0	Nonstop_Mutation	SNP	ENST00000250448.2	37	c.1417T>G	CCDS9665.1	.	.	.	.	.	.	.	.	.	.	A	12.94	2.088750	0.36855	.	.	ENSG00000129514	ENST00000250448;ENST00000540786	.	.	.	4.13	4.13	0.48395	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.2439	0.54560	1.0:0.0:0.0:0.0	.	.	.	.	E	473;440	.	.	X	-	1	0	FOXA1	37130323	1.000000	0.71417	1.000000	0.80357	0.840000	0.47671	8.936000	0.92931	1.727000	0.51537	0.329000	0.21502	TAG		0.562	FOXA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276735.1			4	88	0	0	0	1	0	4	88					C	38060572	A	C	38060572	4	2	44	1	0	0	0	0	0	0	0	0	5989	433	15	5	5	5	FOXA1	14	38060572	Nonstop_Mutation	SNP	A	TCGA-EJ-5494-01A-01D-1576-08		38060572	69288968	39	2374											
FOXA1	3169	broad.mit.edu	37	chr14	38060721	38060721	+	Frame_Shift_Del	DEL	G	G	-																															cgtaaggcgagtattgcagtGcctgttcgtatgccttgaag																										TCGA-EJ-5494-01A-01D-1576-08	TCGA-EJ-5494-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c8c9d3-e3d6-45ea-b448-e1143892a190	d498facd-d3ad-4e75-87a2-bea5253d9f1f	g.chr14:38060721delG	ENST00000250448.2	-	2	1329	c.1268delC	c.(1267-1269)gcafs	p.A423fs	FOXA1_ENST00000545425.2_5'UTR|FOXA1_ENST00000540786.1_Frame_Shift_Del_p.A390fs	NM_004496.3	NP_004487.2	P55317	FOXA1_HUMAN	forkhead box A1	423					anatomical structure formation involved in morphogenesis (GO:0048646)|chromatin remodeling (GO:0006338)|dorsal/ventral neural tube patterning (GO:0021904)|epithelial cell maturation involved in prostate gland development (GO:0060743)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|epithelial-mesenchymal signaling involved in prostate gland development (GO:0060738)|glucose homeostasis (GO:0042593)|hormone metabolic process (GO:0042445)|lung epithelial cell differentiation (GO:0060487)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron fate specification (GO:0048665)|positive regulation of cell-cell adhesion mediated by cadherin (GO:2000049)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prostate gland epithelium morphogenesis (GO:0060740)|prostate gland stromal morphogenesis (GO:0060741)|response to estradiol (GO:0032355)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)	microvillus (GO:0005902)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|endometrium(1)|large_intestine(2)|lung(3)|prostate(12)	19	Breast(36;0.0954)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		Lung(238;5.41e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0454)|LUSC - Lung squamous cell carcinoma(13;0.0917)|all cancers(34;0.0925)|BRCA - Breast invasive adenocarcinoma(188;0.239)	GBM - Glioblastoma multiforme(112;0.0222)		GTATTGCAGTGCCTGTTCGTA	0.612																																						ENST00000250448.2																			0				breast(1)|endometrium(1)|large_intestine(2)|lung(3)|prostate(12)	19						c.(1267-1269)gafs		forkhead box A1							135	105	115					14																	38060721		2203	4300	6503	SO:0001589	frameshift_variant	3169				chromatin remodeling|embryo development|epithelial cell maturation involved in prostate gland development|epithelial tube branching involved in lung morphogenesis|epithelial-mesenchymal signaling involved in prostate gland development|glucose homeostasis|lung epithelial cell differentiation|negative regulation of survival gene product expression|neuron fate specification|pattern specification process|positive regulation of estrogen receptor signaling pathway|positive regulation of mitotic cell cycle|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|prostate gland epithelium morphogenesis|prostate gland stromal morphogenesis|response to estradiol stimulus|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development	transcription factor complex	DNA bending activity|double-stranded DNA binding|protein domain specific binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding	g.chr14:38060721delG	U39840	CCDS9665.1	14q12-q13	2008-04-10		2002-09-20	ENSG00000129514	ENSG00000129514		"Forkhead boxes"	5021	protein-coding gene	gene with protein product		602294	"hepatocyte nuclear factor 3, alpha"	HNF3A		9119385, 8652662	Standard	NM_004496		Approved		uc001wuf.4	P55317	OTTHUMG00000140253	ENST00000250448.2:c.1268delC	14.37:g.38060721delG	ENSP00000250448:p.Ala423fs					FOXA1_ENST00000545425.2_5'UTR|FOXA1_ENST00000540786.1_Frame_Shift_Del_p.A390fs	p.A423fs	NM_004496.3	NP_004487.2	P55317	FOXA1_HUMAN	Lung(238;5.41e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0454)|LUSC - Lung squamous cell carcinoma(13;0.0917)|all cancers(34;0.0925)|BRCA - Breast invasive adenocarcinoma(188;0.239)	GBM - Glioblastoma multiforme(112;0.0222)	2	1329	-	Breast(36;0.0954)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		423					B2R9H6|B7ZAP5|Q9H2A0	Frame_Shift_Del	DEL	ENST00000250448.2	37	c.1268delC	CCDS9665.1																																																																																				0.612	FOXA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276735.1			12	66						12	66	---	---	---	---	-	38060721	G	-	38060721	7	5	44	1	0	1	0	1	0	0	0	0	5989	1319	46	0	154	0	FOXA1	14	38060721	Frame_Shift_Del	DEL	G	TCGA-EJ-5494-01A-01D-1576-08	149	38060721	69288819	40	2375											
SALL1	6299	broad.mit.edu	37	chr16	51173899	51173899	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggttttaagattccctttcGtggtgaaagcccggccacag	8	11	12	10	2	0	2	0	1	0	1	2	2	1	2	3	3	1	1	3	3	2	4			TCGA-EJ-5494-01A-01D-1576-08	TCGA-EJ-5494-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c8c9d3-e3d6-45ea-b448-e1143892a190	d498facd-d3ad-4e75-87a2-bea5253d9f1f	g.chr16:51173899G>A	ENST00000251020.4	-	2	2267	c.2234C>T	c.(2233-2235)aCg>aTg	p.T745M	SALL1_ENST00000566102.1_Intron|SALL1_ENST00000440970.1_Missense_Mutation_p.T648M|SALL1_ENST00000541611.1_Intron	NM_002968.2	NP_002959.2	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	745					adrenal gland development (GO:0030325)|branching involved in ureteric bud morphogenesis (GO:0001658)|embryonic digestive tract development (GO:0048566)|embryonic digit morphogenesis (GO:0042733)|forelimb morphogenesis (GO:0035136)|gonad development (GO:0008406)|heart development (GO:0007507)|hindlimb morphogenesis (GO:0035137)|histone deacetylation (GO:0016575)|inductive cell-cell signaling (GO:0031129)|kidney development (GO:0001822)|kidney epithelium development (GO:0072073)|limb development (GO:0060173)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|olfactory bulb interneuron differentiation (GO:0021889)|olfactory bulb mitral cell layer development (GO:0061034)|olfactory nerve development (GO:0021553)|outer ear morphogenesis (GO:0042473)|pituitary gland development (GO:0021983)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of neural precursor cell proliferation (GO:2000177)|transcription, DNA-templated (GO:0006351)|ureteric bud development (GO:0001657)|ureteric bud invasion (GO:0072092)|ventricular septum development (GO:0003281)	chromocenter (GO:0010369)|cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.T745M(2)		NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			ATTCCCTTTCGTGGTGAAAGC	0.547																																					GBM(103;1352 1446 1855 4775 8890)	ENST00000440970.1																			2	Substitution - Missense(2)	p.T745M(2)	large_intestine(1)|prostate(1)	NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126						c.(1942-1944)aCg>aTg		spalt-like transcription factor 1							61	63	62					16																	51173899		2198	4300	6498	SO:0001583	missense	6299				adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr16:51173899G>A	X98833	CCDS10747.1, CCDS45483.1	16q12.1	2014-09-17	2013-10-17		ENSG00000103449	ENSG00000103449		"Zinc fingers, C2H2-type"	10524	protein-coding gene	gene with protein product		602218	"sal (Drosophila)-like 1", "sal-like 1 (Drosophila)"	TBS		9425907	Standard	NM_002968		Approved	Hsal1, ZNF794	uc021tie.1	Q9NSC2	OTTHUMG00000133176	ENST00000251020.4:c.2234C>T	16.37:g.51173899G>A	ENSP00000251020:p.Thr745Met					SALL1_ENST00000566102.1_Intron|SALL1_ENST00000251020.4_Missense_Mutation_p.T745M|SALL1_ENST00000541611.1_Intron	p.T648M	NM_001127892.1	NP_001121364.1	Q9NSC2	SALL1_HUMAN	COAD - Colon adenocarcinoma(2;0.24)		2	2374	-		all_cancers(37;0.0322)	745					Q99881|Q9NSC3|Q9P1R0	Missense_Mutation	SNP	ENST00000251020.4	37	c.1943C>T	CCDS10747.1	.	.	.	.	.	.	.	.	.	.	G	14.24	2.476370	0.44044	.	.	ENSG00000103449	ENST00000251020;ENST00000440970;ENST00000457559	T;T	0.23147	1.92;1.92	5.3	5.3	0.74995	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.51856	0.1699	M	0.71036	2.16	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.44559	-0.9320	10	0.34782	T	0.22	.	19.0235	0.92923	0.0:0.0:1.0:0.0	.	745	Q9NSC2	SALL1_HUMAN	M	745;648;709	ENSP00000251020:T745M;ENSP00000407914:T648M	ENSP00000251020:T745M	T	-	2	0	SALL1	49731400	1.000000	0.71417	0.994000	0.49952	0.221000	0.24807	9.869000	0.99810	2.490000	0.84030	0.454000	0.30748	ACG		0.547	SALL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256883.2	NM_002968		6	97	0	0	0	1	0	6	97					A	51173899	G	A	51173899	3	1	44	1	0	0	0	0	1	0	0	0	13810	1145	40	1	1748	1	SALL1	16	51173899	Missense_Mutation	SNP	G	TCGA-EJ-5494-01A-01D-1576-08		51173899	39180854	41	2376											
DPH1	1801	broad.mit.edu	37	chr17	1939852	1939852	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acacctcggcccaagacttcCgggtgctgtacgtctttgtg	6	11	11	13	3	1	1	0	0	1	1	3	1	2	1	3	2	2	2	3	2	2	3	rs36104739|rs201399054		TCGA-EJ-5494-01A-01D-1576-08	TCGA-EJ-5494-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c8c9d3-e3d6-45ea-b448-e1143892a190	d498facd-d3ad-4e75-87a2-bea5253d9f1f	g.chr17:1939852C>T	ENST00000263083.6	+	5	490	c.445C>T	c.(445-447)Cgg>Tgg	p.R149W	DPH1_ENST00000576891.2_3'UTR|DPH1_ENST00000570477.1_Missense_Mutation_p.R69W	NM_001383.3	NP_001374.3	Q9BZG8	DPH1_HUMAN	diphthamide biosynthesis 1	149					cell proliferation (GO:0008283)|peptidyl-diphthamide biosynthetic process from peptidyl-histidine (GO:0017183)|translation (GO:0006412)	cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.R149W(2)		endometrium(3)|large_intestine(2)|lung(6)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	17						CCAAGACTTCCGGGTGCTGTA	0.627													C|||	1	0.000199681	8e-04	0	5008	,	,		18071	0		0	False		,,,				2504	0					ENST00000263083.6																			2	Substitution - Missense(2)	p.R149W(2)	prostate(2)	endometrium(3)|large_intestine(2)|lung(6)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	17						c.(445-447)Cgg>Tgg		diphthamide biosynthesis 1		C	TRP/ARG	1,4171		0,1,2085	111	124	119		445	4.4	1	17		119	0,8400		0,0,4200	yes	missense	DPH1	NM_001383.3	101	0,1,6285	TT,TC,CC		0.0,0.024,0.0080	probably-damaging	149/444	1939852	1,12571	2086	4200	6286	SO:0001583	missense	1801				peptidyl-diphthamide biosynthetic process from peptidyl-histidine|translation	cytoplasm|nucleus		g.chr17:1939852C>T	S81752	CCDS42228.1	17p13.3	2013-05-02	2013-05-02	2005-06-03	ENSG00000108963	ENSG00000108963			3003	protein-coding gene	gene with protein product	"ovarian tumor suppressor candidate 1"	603527	"diptheria toxin resistance protein required for diphthamide biosynthesis-like 1 (S. cerevisiae)", "DPH-like 1 (S. cerevisiae)", "DPH1 homolog (S. cerevisiae)"	DPH2L, DPH2L1		8603384, 15485916, 22869748	Standard	NM_001383		Approved	OVCA1	uc002fts.3	Q9BZG8	OTTHUMG00000177724	ENST00000263083.6:c.445C>T	17.37:g.1939852C>T	ENSP00000263083:p.Arg149Trp					DPH1_ENST00000576891.2_3'UTR|DPH1_ENST00000570477.1_Missense_Mutation_p.R69W	p.R149W	NM_001383.3	NP_001374.3	Q9BZG8	DPH1_HUMAN			5	490	+			149					D3DTI3|Q16439|Q4VBA2|Q9BTW7|Q9UCY0	Missense_Mutation	SNP	ENST00000263083.6	37	c.445C>T	CCDS42228.1	.	.	.	.	.	.	.	.	.	.	C	17.54	3.416253	0.62511	2.4E-4	0.0	ENSG00000108963	ENST00000263083	T	0.45276	0.9	5.38	4.4	0.53042	.	0.134755	0.51477	D	0.000083	T	0.58278	0.2111	M	0.68593	2.085	0.40506	D	0.980693	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.65443	0.935;0.935;0.935	T	0.62863	-0.6764	10	0.87932	D	0	-12.3904	10.4834	0.44706	0.1527:0.7032:0.1441:0.0	.	159;159;149	E7ENH3;B4DNK0;Q9BZG8	.;.;DPH1_HUMAN	W	149	ENSP00000263083:R149W	ENSP00000263083:R149W	R	+	1	2	DPH1	1886602	0.998000	0.40836	0.986000	0.45419	0.660000	0.38997	2.697000	0.47060	1.256000	0.44068	0.555000	0.69702	CGG		0.627	DPH1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000438660.1	NM_001383		11	148	0	0	0	1	0	11	148					T	1939852	C	T	1939852	3	4	44	1	0	0	0	0	1	0	0	0	4719	643	23	2	463	2	DPH1	17	1939852	Missense_Mutation	SNP	C	TCGA-EJ-5494-01A-01D-1576-08		1939852	79255358	42	2377											
RPL19	6143	broad.mit.edu	37	chr17	37360425	37360425	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gctgaaggcagacaaggcccGcaagaagctcctggcgtaag	12	4	14	11	2	0	3	0	1	0	2	1	3	1	3	2	3	1	5	2	3	5	1			TCGA-EJ-5494-01A-01D-1576-08	TCGA-EJ-5494-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c8c9d3-e3d6-45ea-b448-e1143892a190	d498facd-d3ad-4e75-87a2-bea5253d9f1f	g.chr17:37360425G>A	ENST00000225430.4	+	5	514	c.452G>A	c.(451-453)cGc>cAc	p.R151H	RPL19_ENST00000579374.1_Missense_Mutation_p.R148H|RPL19_ENST00000582193.1_Missense_Mutation_p.R149H|RPL19_ENST00000579260.1_Missense_Mutation_p.R149H	NM_000981.3	NP_000972.1	P84098	RL19_HUMAN	ribosomal protein L19	151					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)	p.R151H(1)		kidney(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	7						GACAAGGCCCGCAAGAAGCTC	0.453																																						ENST00000579260.1																			1	Substitution - Missense(1)	p.R151H(1)	prostate(1)	kidney(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	7						c.(445-447)cGc>cAc		ribosomal protein L19							60	63	62					17																	37360425		1894	4119	6013	SO:0001583	missense	6143				endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	RNA binding|structural constituent of ribosome	g.chr17:37360425G>A		CCDS42312.1	17q12	2012-09-20			ENSG00000108298	ENSG00000108298		"L ribosomal proteins"	10312	protein-coding gene	gene with protein product	"60S ribosomal protein L19", "ribosomal protein L19, cytosolic, N-terminus truncated"	180466				1577483	Standard	XM_005257564		Approved	FLJ27452, MGC71997, DKFZp779D216, L19	uc002hrq.1	P84098	OTTHUMG00000178979	ENST00000225430.4:c.452G>A	17.37:g.37360425G>A	ENSP00000225430:p.Arg151His					RPL19_ENST00000579374.1_Missense_Mutation_p.R148H|RPL19_ENST00000582193.1_Missense_Mutation_p.R149H|RPL19_ENST00000225430.4_Missense_Mutation_p.R151H	p.R149H			P84098	RL19_HUMAN			5	849	+			151					B2R4K2|P14118|P22908|Q502Y6|Q7Z6E4	Missense_Mutation	SNP	ENST00000225430.4	37	c.446G>A	CCDS42312.1	.	.	.	.	.	.	.	.	.	.	g	17.23	3.337528	0.60963	.	.	ENSG00000108298	ENST00000225430	.	.	.	5.43	4.46	0.54185	.	0.056541	0.64402	D	0.000001	T	0.79793	0.4507	H	0.96208	3.785	0.80722	D	1	B	0.06786	0.001	B	0.01281	0.0	T	0.80089	-0.1528	9	0.66056	D	0.02	.	13.4783	0.61322	0.0755:0.0:0.9245:0.0	.	151	P84098	RL19_HUMAN	H	151	.	ENSP00000225430:R151H	R	+	2	0	RPL19	34613951	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.618000	0.98365	1.297000	0.44761	0.563000	0.77884	CGC		0.453	RPL19-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000444190.1	NM_000981		3	51	0	0	0	1	0	3	51					A	37360425	G	A	37360425	3	1	44	1	0	0	0	0	1	0	0	0	13566	1087	38	1	470	1	RPL19	17	37360425	Missense_Mutation	SNP	G	TCGA-EJ-5494-01A-01D-1576-08	35420573	37360425	43834785	43	2378											
LAMA3	3909	broad.mit.edu	37	chr18	21426327	21426327	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggccttttaccacaagggCgccctgccttgtgagtgcca	6	10	12	13	1	0	1	0	1	0	0	0	1	0	1	5	2	3	0	5	2	2	3			TCGA-EJ-5494-01A-01D-1576-08	TCGA-EJ-5494-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c8c9d3-e3d6-45ea-b448-e1143892a190	d498facd-d3ad-4e75-87a2-bea5253d9f1f	g.chr18:21426327C>T	ENST00000313654.9	+	31	4027	c.3786C>T	c.(3784-3786)ggC>ggT	p.G1262G	LAMA3_ENST00000399516.3_Silent_p.G1262G	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	1262	Domain IV 1 (domain IV B).				cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-5 complex (GO:0005610)	structural molecule activity (GO:0005198)	p.G1262G(1)		NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)					ACCACAAGGGCGCCCTGCCTT	0.632																																						ENST00000313654.9																			1	Substitution - coding silent(1)	p.G1262G(1)	prostate(1)	NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128						c.(3784-3786)ggC>ggT		laminin, alpha 3	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						77	80	79					18																	21426327		1927	4125	6052	SO:0001819	synonymous_variant	3909				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	g.chr18:21426327C>T	L34155	CCDS11880.1, CCDS42419.1, CCDS45838.1, CCDS59307.1	18q11.2	2013-03-01	2002-08-29		ENSG00000053747	ENSG00000053747		"Laminins"	6483	protein-coding gene	gene with protein product		600805	"laminin, alpha 3 (nicein (150kD), kalinin (165kD), BM600 (150kD), epilegrin)"	LAMNA		8077230	Standard	NM_000227		Approved	nicein-150kDa, kalinin-165kDa, BM600-150kDa, epiligrin	uc002kuq.3	Q16787	OTTHUMG00000131874	ENST00000313654.9:c.3786C>T	18.37:g.21426327C>T						LAMA3_ENST00000399516.3_Silent_p.G1262G	p.G1262G	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN			31	4027	+	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)		1262			Domain IV 1 (domain IV B).		B0YJ33|Q13679|Q13680|Q6VU67|Q6VU68|Q6VU69|Q76E14|Q96TG0	Silent	SNP	ENST00000313654.9	37	c.3786C>T	CCDS42419.1																																																																																				0.632	LAMA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254824.3	NM_000227, NM_198129		7	189	0	0	0	1	0	7	189					T	21426327	C	T	21426327	2	4	44	1	0	0	0	0	0	0	0	1	8607	755	27	1		1	LAMA3	18	21426327	Silent	SNP	C	TCGA-EJ-5494-01A-01D-1576-08		21426327	56650921	44	2379											
CACNA1A	773	broad.mit.edu	37	chr19	13423526	13423526	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagagtggaagtaaggccgcGtcccaagcccgtacattttt	11	9	11	10	3	0	1	0	0	0	1	1	2	1	2	3	2	2	2	3	2	5	4			TCGA-EJ-5494-01A-01D-1576-08	TCGA-EJ-5494-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c8c9d3-e3d6-45ea-b448-e1143892a190	d498facd-d3ad-4e75-87a2-bea5253d9f1f	g.chr19:13423526G>A	ENST00000360228.5	-	12	1624	c.1625C>T	c.(1624-1626)aCg>aTg	p.T542M	CACNA1A_ENST00000573710.2_Missense_Mutation_p.T543M	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	543					adult walking behavior (GO:0007628)|behavioral response to pain (GO:0048266)|calcium ion import (GO:0070509)|calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cell death (GO:0008219)|cell growth (GO:0016049)|cellular chloride ion homeostasis (GO:0030644)|cerebellar molecular layer development (GO:0021679)|cerebellar Purkinje cell differentiation (GO:0021702)|cerebellum maturation (GO:0021590)|dendrite morphogenesis (GO:0048813)|energy reserve metabolic process (GO:0006112)|gamma-aminobutyric acid secretion (GO:0014051)|gamma-aminobutyric acid signaling pathway (GO:0007214)|glucose metabolic process (GO:0006006)|hormone metabolic process (GO:0042445)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|musculoskeletal movement, spinal reflex action (GO:0050883)|negative regulation of hormone biosynthetic process (GO:0032353)|negative regulation of neuron apoptotic process (GO:0043524)|neuromuscular process controlling balance (GO:0050885)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter metabolic process (GO:0042133)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|receptor clustering (GO:0043113)|regulation of acetylcholine secretion, neurotransmission (GO:0014056)|regulation of axonogenesis (GO:0050770)|regulation of calcium ion-dependent exocytosis (GO:0017158)|regulation of insulin secretion (GO:0050796)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|spinal cord motor neuron differentiation (GO:0021522)|sulfur amino acid metabolic process (GO:0000096)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transmission of nerve impulse (GO:0019226)|vestibular nucleus development (GO:0021750)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|syntaxin binding (GO:0019905)|voltage-gated calcium channel activity (GO:0005245)	p.T543M(3)|p.T542M(1)		breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Loperamide(DB00836)|Pregabalin(DB00230)|Spironolactone(DB00421)|Verapamil(DB00661)	GTAAGGCCGCGTCCCAAGCCC	0.438																																						ENST00000360228.5																			4	Substitution - Missense(4)	p.T543M(3)|p.T542M(1)	prostate(4)	breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42						c.(1624-1626)aCg>aTg		calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)						96	93	94					19																	13423526		1884	4101	5985	SO:0001583	missense	773				cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding	g.chr19:13423526G>A	U79666	CCDS45998.1, CCDS45999.1	19p13	2014-09-17			ENSG00000141837	ENSG00000141837		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1388	protein-coding gene	gene with protein product		601011		CACNL1A4, SCA6, MHP1, MHP		8825650, 16382099, 23827678	Standard	NM_000068		Approved	Cav2.1, EA2, APCA, HPCA, FHM	uc010xne.2	O00555	OTTHUMG00000044590	ENST00000360228.5:c.1625C>T	19.37:g.13423526G>A	ENSP00000353362:p.Thr542Met					CACNA1A_ENST00000573710.2_Missense_Mutation_p.T543M	p.T542M	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		12	1624	-			543					J3KP41|P78510|P78511|Q16290|Q92690|Q99790|Q99791|Q99792|Q99793|Q9NS88|Q9UDC4	Missense_Mutation	SNP	ENST00000360228.5	37	c.1625C>T	CCDS45998.1	.	.	.	.	.	.	.	.	.	.	G	14.87	2.665458	0.47677	.	.	ENSG00000141837	ENST00000360228;ENST00000418012;ENST00000357018;ENST00000325084	D	0.98437	-4.93	5.11	5.11	0.69529	Ion transport (1);	0.152448	0.42294	D	0.000721	D	0.96938	0.9000	N	0.03608	-0.345	0.39540	D	0.968802	D;D;D	0.89917	0.995;1.0;1.0	P;D;D	0.87578	0.862;0.982;0.998	D	0.99868	1.1092	10	0.62326	D	0.03	.	17.6776	0.88235	0.0:0.0:1.0:0.0	.	543;543;542	O00555;E9PD31;Q9NS88	CAC1A_HUMAN;.;.	M	542;543;543;543	ENSP00000353362:T542M	ENSP00000317661:T543M	T	-	2	0	CACNA1A	13284526	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	5.786000	0.69006	2.529000	0.85273	0.650000	0.86243	ACG		0.438	CACNA1A-001	KNOWN	non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000104062.2	NM_000068		8	93	0	0	0	1	0	8	93					A	13423526	G	A	13423526	3	1	44	1	0	0	0	0	1	0	0	0	2538	1145	40	1	6150	1	CACNA1A	19	13423526	Missense_Mutation	SNP	G	TCGA-EJ-5494-01A-01D-1576-08		13423526	45705457	45	2380											
SIPA1L3	23094	broad.mit.edu	37	chr19	38572930	38572930	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaggccctcaccgagctccTccgggcagatcctggcccac	6	5	10	20	2	1	1	1	0	0	1	4	2	4	1	7	3	1	2	7	3	0	0			TCGA-EJ-5494-01A-01D-1576-08	TCGA-EJ-5494-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c8c9d3-e3d6-45ea-b448-e1143892a190	d498facd-d3ad-4e75-87a2-bea5253d9f1f	g.chr19:38572930T>C	ENST00000222345.6	+	3	1234	c.725T>C	c.(724-726)cTc>cCc	p.L242P		NM_015073.1	NP_055888.1	O60292	SI1L3_HUMAN	signal-induced proliferation-associated 1 like 3	242					hematopoietic progenitor cell differentiation (GO:0002244)|regulation of small GTPase mediated signal transduction (GO:0051056)	extracellular space (GO:0005615)	GTPase activator activity (GO:0005096)	p.L242P(1)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			ACCGAGCTCCTCCGGGCAGAT	0.701																																						ENST00000222345.6																			1	Substitution - Missense(1)	p.L242P(1)	prostate(1)	NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59						c.(724-726)cTc>cCc		signal-induced proliferation-associated 1 like 3							22	23	23					19																	38572930		2051	4047	6098	SO:0001583	missense	23094				regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity	g.chr19:38572930T>C	AB011117	CCDS33007.1	19q13.13	2008-02-05			ENSG00000105738	ENSG00000105738			23801	protein-coding gene	gene with protein product							Standard	XM_005258671		Approved	KIAA0545	uc002ohk.3	O60292	OTTHUMG00000073727	ENST00000222345.6:c.725T>C	19.37:g.38572930T>C	ENSP00000222345:p.Leu242Pro						p.L242P	NM_015073.1	NP_055888.1	O60292	SI1L3_HUMAN	Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)		3	1234	+			242					Q2TV87	Missense_Mutation	SNP	ENST00000222345.6	37	c.725T>C	CCDS33007.1	.	.	.	.	.	.	.	.	.	.	T	15.22	2.770164	0.49680	.	.	ENSG00000105738	ENST00000222345	T	0.80393	-1.37	5.22	5.22	0.72569	.	0.393945	0.23387	N	0.048723	D	0.84660	0.5521	L	0.52011	1.625	0.54753	D	0.999988	D	0.89917	1.0	D	0.91635	0.999	T	0.83107	-0.0125	10	0.36615	T	0.2	-17.3271	8.7554	0.34643	0.0:0.0867:0.0:0.9133	.	242	O60292	SI1L3_HUMAN	P	242	ENSP00000222345:L242P	ENSP00000222345:L242P	L	+	2	0	SIPA1L3	43264770	0.969000	0.33509	0.213000	0.23690	0.814000	0.46013	2.541000	0.45735	1.983000	0.57843	0.460000	0.39030	CTC		0.701	SIPA1L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000156294.2	XM_032278		3	58	0	0	0	1	0	3	58					C	38572930	T	C	38572930	3	2	44	1	0	0	0	0	1	0	0	0	14331	1551	54	4	727	4	SIPA1L3	19	38572930	Missense_Mutation	SNP	T	TCGA-EJ-5494-01A-01D-1576-08	25149404	38572930	20556053	46	2381											
FAM83C	128876	broad.mit.edu	37	chr20	33875234	33875234	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atggaactggaggaggggccGggagcgaggaagcagaggtg	11	3	22	5	2	0	1	0	0	0	1	0	7	0	6	1	8	3	1	1	8	2	0	rs369109150		TCGA-EJ-5494-01A-01D-1576-08	TCGA-EJ-5494-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c8c9d3-e3d6-45ea-b448-e1143892a190	d498facd-d3ad-4e75-87a2-bea5253d9f1f	g.chr20:33875234G>A	ENST00000374408.3	-	4	1444	c.1348C>T	c.(1348-1350)Cgg>Tgg	p.R450W	EIF6_ENST00000374436.3_5'Flank|FAM83C-AS1_ENST00000429167.1_RNA|EIF6_ENST00000374443.3_5'Flank|EIF6_ENST00000462894.1_5'Flank|EIF6_ENST00000374450.3_5'Flank	NM_178468.5	NP_848563.1	Q9BQN1	FA83C_HUMAN	family with sequence similarity 83, member C	450								p.R450W(1)		central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(18;0.00252)			AGGAGGGGCCGGGAGCGAGGA	0.647																																						ENST00000374408.3																			1	Substitution - Missense(1)	p.R450W(1)	prostate(1)	central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						c.(1348-1350)Cgg>Tgg		family with sequence similarity 83, member C		G	TRP/ARG	1,4405		0,1,2202	34	32	33		1348	2.3	0	20		33	0,8600		0,0,4300	no	missense	FAM83C	NM_178468.4	101	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	450/748	33875234	1,13005	2203	4300	6503	SO:0001583	missense	128876							g.chr20:33875234G>A	AL121753	CCDS13251.1	20q11.22	2011-04-01	2006-03-23	2006-03-23	ENSG00000125998	ENSG00000125998			16121	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 128"	C20orf128			Standard	NM_178468		Approved	dJ614O4.7	uc021wck.1	Q9BQN1	OTTHUMG00000032332	ENST00000374408.3:c.1348C>T	20.37:g.33875234G>A	ENSP00000363529:p.Arg450Trp						p.R450W	NM_178468.5	NP_848563.1	Q9BQN1	FA83C_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.00252)		4	1444	-			450					Q14D67|Q5JWN6|Q8N276	Missense_Mutation	SNP	ENST00000374408.3	37	c.1348C>T	CCDS13251.1	.	.	.	.	.	.	.	.	.	.	G	14.51	2.558263	0.45590	2.27E-4	0.0	ENSG00000125998	ENST00000374408	T	0.09911	2.93	4.29	2.33	0.28932	.	0.510837	0.19806	N	0.105654	T	0.14657	0.0354	M	0.73598	2.24	0.09310	N	1	D	0.60575	0.988	P	0.44477	0.451	T	0.12656	-1.0539	10	0.62326	D	0.03	-42.6193	7.777	0.29043	0.2097:0.0:0.7903:0.0	.	450	Q9BQN1	FA83C_HUMAN	W	450	ENSP00000363529:R450W	ENSP00000363529:R450W	R	-	1	2	FAM83C	33338648	0.060000	0.20803	0.029000	0.17559	0.843000	0.47879	1.604000	0.36804	1.169000	0.42739	0.561000	0.74099	CGG		0.647	FAM83C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078854.3			5	60	0	0	0	1	0	5	60					A	33875234	G	A	33875234	3	1	44	1	0	0	0	0	1	0	0	0	5635	1115	39	2	899	2	FAM83C	20	33875234	Missense_Mutation	SNP	G	TCGA-EJ-5494-01A-01D-1576-08		33875234	29150286	47	2382											
CEP250	11190	broad.mit.edu	37	chr20	34091637	34091637	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aggcccagagagccctagccCagagggaccaggaactggag	12	2	15	12	0	0	2	0	0	0	2	0	6	0	5	4	4	3	0	4	4	2	1			TCGA-EJ-5494-01A-01D-1576-08	TCGA-EJ-5494-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c8c9d3-e3d6-45ea-b448-e1143892a190	d498facd-d3ad-4e75-87a2-bea5253d9f1f	g.chr20:34091637C>G	ENST00000397527.1	+	30	6160	c.5440C>G	c.(5440-5442)Cag>Gag	p.Q1814E	CEP250_ENST00000342580.4_Missense_Mutation_p.Q1758E	NM_007186.3	NP_009117.2	Q9BV73	CP250_HUMAN	centrosomal protein 250kDa	1814	Gln/Glu-rich.				centriole-centriole cohesion (GO:0010457)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|protein localization (GO:0008104)|protein localization to organelle (GO:0033365)|regulation of centriole-centriole cohesion (GO:0030997)	centriole (GO:0005814)|centrosome (GO:0005813)|cilium (GO:0005929)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule organizing center (GO:0005815)|protein complex (GO:0043234)|spindle pole centrosome (GO:0031616)	protein C-terminus binding (GO:0008022)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)	p.Q1814E(1)		NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Lung NSC(9;0.00156)|all_lung(11;0.00243)		BRCA - Breast invasive adenocarcinoma(18;0.0106)			AGCCCTAGCCCAGAGGGACCA	0.607																																						ENST00000397527.1																			1	Substitution - Missense(1)	p.Q1814E(1)	prostate(1)	NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						c.(5440-5442)Cag>Gag		centrosomal protein 250kDa							50	54	52					20																	34091637		2203	4300	6503	SO:0001583	missense	11190				centriole-centriole cohesion|G2/M transition of mitotic cell cycle|protein localization|regulation of centriole-centriole cohesion	centriole|cilium|cytosol|microtubule basal body|perinuclear region of cytoplasm|protein complex	protein C-terminus binding|protein kinase binding	g.chr20:34091637C>G	AF022655	CCDS13255.1	20q11.22	2014-02-20	2006-01-11	2006-01-11	ENSG00000126001	ENSG00000126001			1859	protein-coding gene	gene with protein product		609689	"centrosomal protein 2"	CEP2		9506584, 9647649	Standard	NM_007186		Approved	C-NAP1	uc021wco.1	Q9BV73	OTTHUMG00000032343	ENST00000397527.1:c.5440C>G	20.37:g.34091637C>G	ENSP00000380661:p.Gln1814Glu					CEP250_ENST00000342580.4_Missense_Mutation_p.Q1758E	p.Q1814E	NM_007186.3	NP_009117.2	Q9BV73	CP250_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.0106)		30	6160	+	Lung NSC(9;0.00156)|all_lung(11;0.00243)		1814			Gln/Glu-rich.		E1P5Q3|O14812|O60588|Q9H450	Missense_Mutation	SNP	ENST00000397527.1	37	c.5440C>G	CCDS13255.1	.	.	.	.	.	.	.	.	.	.	C	0.098	-1.155961	0.01686	.	.	ENSG00000126001	ENST00000397527;ENST00000342580;ENST00000422671	T;T;T	0.36878	3.18;3.2;1.23	4.94	4.94	0.65067	.	0.374463	0.23270	N	0.050021	T	0.34019	0.0883	M	0.68317	2.08	0.31577	N	0.655555	B	0.14012	0.009	B	0.14023	0.01	T	0.37663	-0.9696	10	0.07030	T	0.85	.	13.9932	0.64380	0.0:0.8043:0.1956:0.0	.	1814	Q9BV73	CP250_HUMAN	E	1814;1758;302	ENSP00000380661:Q1814E;ENSP00000341541:Q1758E;ENSP00000395992:Q302E	ENSP00000341541:Q1758E	Q	+	1	0	CEP250	33555051	0.051000	0.20477	0.513000	0.27749	0.054000	0.15201	1.588000	0.36633	2.573000	0.86826	0.655000	0.94253	CAG		0.607	CEP250-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078877.7	NM_007186		5	100	0	0	0	1	0	5	100					G	34091637	C	G	34091637	3	3	44	1	0	0	0	0	1	0	0	0	3252	595	21	5	5546	5	CEP250	20	34091637	Missense_Mutation	SNP	C	TCGA-EJ-5494-01A-01D-1576-08	216403	34091637	28933883	48	2383											
CSNK1E	1454	broad.mit.edu	37	chr22	38696816	38696816	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gggaatgtgctggtgggtgcGggcgtcccggtacttcttgg	3	11	19	8	3	1	0	0	0	1	0	2	1	2	1	1	6	3	2	1	6	2	3			TCGA-EJ-5494-01A-01D-1576-08	TCGA-EJ-5494-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c8c9d3-e3d6-45ea-b448-e1143892a190	d498facd-d3ad-4e75-87a2-bea5253d9f1f	g.chr22:38696816G>T	ENST00000396832.1	-	5	738	c.478C>A	c.(478-480)Cgc>Agc	p.R160S	CSNK1E_ENST00000359867.3_Missense_Mutation_p.R160S|CSNK1E_ENST00000498529.1_5'Flank|CSNK1E_ENST00000403904.1_Missense_Mutation_p.R160S|CSNK1E_ENST00000413574.2_Missense_Mutation_p.R160S|CSNK1E_ENST00000405675.3_Missense_Mutation_p.R160S|CSNK1E_ENST00000400206.2_Missense_Mutation_p.R160S	NM_152221.2	NP_689407.1	P49674	KC1E_HUMAN	casein kinase 1, epsilon	160	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular protein localization (GO:0034613)|circadian regulation of gene expression (GO:0032922)|DNA repair (GO:0006281)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|negative regulation of Wnt signaling pathway (GO:0030178)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|protein phosphorylation (GO:0006468)|regulation of circadian rhythm (GO:0042752)|signal transduction (GO:0007165)	cytosol (GO:0005829)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	22	Melanoma(58;0.045)					TGGTGGGTGCGGGCGTCCCGG	0.622																																					Esophageal Squamous(119;108 755 9651 12170 13692 17603 24932 28315 37982 41601)	ENST00000396832.1																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	22						c.(478-480)Cgc>Agc		casein kinase 1, epsilon							157	128	138					22																	38696816		2203	4300	6503	SO:0001583	missense	1454				DNA repair|G2/M transition of mitotic cell cycle|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|signal transduction	cytosol|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr22:38696816G>T		CCDS13970.1	22q13.1	2013-01-17			ENSG00000213923	ENSG00000213923			2453	protein-coding gene	gene with protein product		600863				7797465, 10535959	Standard	NM_001894		Approved	HCKIE, CKIE, CKIepsilon	uc003avk.3	P49674	OTTHUMG00000151135	ENST00000396832.1:c.478C>A	22.37:g.38696816G>T	ENSP00000380044:p.Arg160Ser					CSNK1E_ENST00000413574.2_Missense_Mutation_p.R160S|CSNK1E_ENST00000405675.3_Missense_Mutation_p.R160S|CSNK1E_ENST00000403904.1_Missense_Mutation_p.R160S|CSNK1E_ENST00000400206.2_Missense_Mutation_p.R160S|CSNK1E_ENST00000359867.3_Missense_Mutation_p.R160S	p.R160S	NM_152221.2	NP_689407.1	P49674	KC1E_HUMAN			5	738	-	Melanoma(58;0.045)		160			Protein kinase.			Missense_Mutation	SNP	ENST00000396832.1	37	c.478C>A	CCDS13970.1	.	.	.	.	.	.	.	.	.	.	G	27.8	4.868329	0.91587	.	.	ENSG00000213923	ENST00000359867;ENST00000396832;ENST00000402865;ENST00000400206;ENST00000403904;ENST00000413574;ENST00000405675;ENST00000430335	T;T;T;T;T;T;T	0.06218	3.33;3.33;3.33;3.33;3.33;3.33;3.33	5.44	5.44	0.79542	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.151436	0.64402	D	0.000012	T	0.13243	0.0321	L	0.49699	1.58	0.80722	D	1	B;P;P	0.46621	0.072;0.705;0.881	B;B;P	0.48030	0.089;0.4;0.564	T	0.00795	-1.1563	10	0.40728	T	0.16	.	19.2764	0.94032	0.0:0.0:1.0:0.0	.	160;160;160	B0QY35;B0QY34;P49674	.;.;KC1E_HUMAN	S	160	ENSP00000352929:R160S;ENSP00000380044:R160S;ENSP00000383067:R160S;ENSP00000384074:R160S;ENSP00000407235:R160S;ENSP00000384426:R160S;ENSP00000412335:R160S	ENSP00000352929:R160S	R	-	1	0	CSNK1E	37026762	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.860000	0.86993	2.724000	0.93272	0.561000	0.74099	CGC		0.622	CSNK1E-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321462.1	NM_001894		3	103	1	0	0.004672	1	0.00498347	3	103					T	38696816	G	T	38696816	3	4	44	1	0	0	0	0	1	0	0	0	3953	1116	39	5	796	5	CSNK1E	22	38696816	Missense_Mutation	SNP	G	TCGA-EJ-5494-01A-01D-1576-08		38696816	12607750	49	2384											
MXRA5	25878	broad.mit.edu	37	chrX	3242966	3242966	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctttggactgaagcacattgCacacaactgaccgccttcat	11	10	7	13	1	1	2	1	2	0	0	1	3	1	3	2	1	3	2	2	1	2	3			TCGA-EJ-5494-01A-01D-1576-08	TCGA-EJ-5494-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c8c9d3-e3d6-45ea-b448-e1143892a190	d498facd-d3ad-4e75-87a2-bea5253d9f1f	g.chrX:3242966C>A	ENST00000217939.6	-	5	914	c.760G>T	c.(760-762)Gca>Tca	p.A254S		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	254	LRRCT.					extracellular vesicular exosome (GO:0070062)		p.A254S(3)		NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				AAGCACATTGCACACAACTGA	0.408																																						ENST00000217939.6																			3	Substitution - Missense(3)	p.A254S(3)	prostate(3)	NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157						c.(760-762)Gca>Tca		matrix-remodelling associated 5							55	49	51					X																	3242966		2203	4297	6500	SO:0001583	missense	25878					extracellular region		g.chrX:3242966C>A	AF245505	CCDS14124.1	Xp22.33	2013-01-29			ENSG00000101825	ENSG00000101825		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	7539	protein-coding gene	gene with protein product	"adlican"					12101425	Standard	NM_015419		Approved	DKFZp564I1922	uc004crg.4	Q9NR99	OTTHUMG00000021083	ENST00000217939.6:c.760G>T	X.37:g.3242966C>A	ENSP00000217939:p.Ala254Ser						p.A254S	NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN			5	914	-		all_lung(23;0.00031)|Lung NSC(23;0.000946)	254			LRRCT.		Q6P1M7|Q9Y3Y8	Missense_Mutation	SNP	ENST00000217939.6	37	c.760G>T	CCDS14124.1	.	.	.	.	.	.	.	.	.	.	C	0.011	-1.692228	0.00731	.	.	ENSG00000101825	ENST00000381114;ENST00000217939	T	0.62364	0.03	3.08	-1.34	0.09143	Cysteine-rich flanking region, C-terminal (1);	0.466719	0.15621	N	0.252894	T	0.38639	0.1048	N	0.21508	0.67	0.09310	N	1	B	0.11235	0.004	B	0.09377	0.004	T	0.18366	-1.0339	10	0.16420	T	0.52	.	6.654	0.22977	0.296:0.309:0.3951:0.0	.	254	Q9NR99	MXRA5_HUMAN	S	254	ENSP00000217939:A254S	ENSP00000217939:A254S	A	-	1	0	MXRA5	3252966	0.215000	0.23574	0.000000	0.03702	0.006000	0.05464	0.359000	0.20233	-0.183000	0.10585	0.425000	0.28330	GCA		0.408	MXRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055655.2	NM_015419		9	46	1	0	0.00621372	1	0.00651931	9	46					A	3242966	C	A	3242966	3	1	44	1	0	0	0	0	1	0	0	0	10003	710	25	5	7738	5	MXRA5	23	3242966	Missense_Mutation	SNP	C	TCGA-EJ-5494-01A-01D-1576-08		3242966	152027594	50	2385											
NXF3	56000	broad.mit.edu	37	chrX	102337712	102337712	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtatgttctcttcatggacGtccagggaggcagccatgca	8	10	13	10	1	2	0	1	0	1	0	4	2	3	2	2	4	2	4	2	4	1	3	rs146732324		TCGA-EJ-5494-01A-01D-1576-08	TCGA-EJ-5494-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c8c9d3-e3d6-45ea-b448-e1143892a190	d498facd-d3ad-4e75-87a2-bea5253d9f1f	g.chrX:102337712G>A	ENST00000395065.3	-	8	857	c.756C>T	c.(754-756)gaC>gaT	p.D252D	NXF3_ENST00000425463.2_Silent_p.D163D|NXF3_ENST00000425644.1_De_novo_Start_InFrame	NM_022052.1	NP_071335.1	Q9H4D5	NXF3_HUMAN	nuclear RNA export factor 3	252					mRNA export from nucleus (GO:0006406)|poly(A)+ mRNA export from nucleus (GO:0016973)	cytoplasm (GO:0005737)|nuclear RNA export factor complex (GO:0042272)|nucleus (GO:0005634)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)	p.D252D(1)		NS(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(15)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26						CTTCATGGACGTCCAGGGAGG	0.478																																						ENST00000425644.1																			1	Substitution - coding silent(1)	p.D252D(1)	prostate(1)	NS(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(15)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26								nuclear RNA export factor 3		G		2,3833		0,2,1630,571	176	146	156		756	-4.8	0	X	dbSNP_134	156	0,6728		0,0,2428,1872	no	coding-synonymous	NXF3	NM_022052.1		0,2,4058,2443	AA,AG,GG,G		0.0,0.0522,0.0189		252/532	102337712	2,10561	2203	4300	6503	SO:0001819	synonymous_variant	56000					cytoplasm|nuclear RNA export factor complex	nucleocytoplasmic transporter activity|nucleotide binding|protein binding	g.chrX:102337712G>A	AJ277527	CCDS14503.1	Xq22	2008-02-05			ENSG00000147206	ENSG00000147206			8073	protein-coding gene	gene with protein product		300316				11073998	Standard	NM_022052		Approved		uc004eju.3	Q9H4D5	OTTHUMG00000022088	ENST00000395065.3:c.756C>T	X.37:g.102337712G>A						NXF3_ENST00000425463.2_Silent_p.D163D|NXF3_ENST00000395065.3_Silent_p.D252D				Q9H4D5	NXF3_HUMAN			0	826	-								B4DYS7|Q5H9I1|Q9H1A9	Translation_Start_Site	SNP	ENST00000395065.3	37		CCDS14503.1	.	.	.	.	.	.	.	.	.	.	G	2.054	-0.417103	0.04766	5.22E-4	0.0	ENSG00000147206	ENST00000427570	.	.	.	3.64	-4.84	0.03151	.	.	.	.	.	T	0.16471	0.0396	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.22521	-1.0214	4	.	.	.	0.2683	0.2606	0.00218	0.274:0.2654:0.1417:0.3188	.	.	.	.	C	129	.	.	R	-	1	0	NXF3	102224368	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.930000	0.01557	-1.518000	0.01778	-1.003000	0.02500	CGT		0.478	NXF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057684.1	NM_022052		21	159	0	0	0	1	0	21	159					A	102337712	G	A	102337712	2	1	44	1	0	0	0	0	0	0	0	1	10785	1136	40	1		1	NXF3	23	102337712	Silent	SNP	G	TCGA-EJ-5494-01A-01D-1576-08	99094746	102337712	52932848	51	2386											
NPHP4	261734	broad.mit.edu	37	chr1	5964828	5964828	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tggaaggtgaaatacacagtCtttggccatgatgttcctcg	10	12	11	8	1	1	2	0	2	1	0	3	3	2	3	2	3	1	1	2	3	3	3			TCGA-EJ-5495-01A-01D-1576-08	TCGA-EJ-5495-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a06cd9-5e37-41b7-954f-173a2ab44179	695fd2d7-9426-45e1-81f0-79fbdf6ba0bf	g.chr1:5964828C>T	ENST00000378156.4	-	16	2257	c.1992G>A	c.(1990-1992)aaG>aaA	p.K664K	NPHP4_ENST00000478423.2_5'UTR	NM_015102.3	NP_055917.1	O75161	NPHP4_HUMAN	nephronophthisis 4	664					actin cytoskeleton organization (GO:0030036)|hippo signaling (GO:0035329)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|retina development in camera-type eye (GO:0060041)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|visual behavior (GO:0007632)	cell-cell junction (GO:0005911)|centrosome (GO:0005813)|cytosol (GO:0005829)|membrane (GO:0016020)|nonmotile primary cilium (GO:0031513)|tight junction (GO:0005923)	structural molecule activity (GO:0005198)	p.K664K(2)|p.K664N(1)		NS(1)|breast(2)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(4)	47	Ovarian(185;0.0634)	all_cancers(23;7.53e-41)|all_epithelial(116;3.96e-23)|all_lung(118;5.12e-09)|all_hematologic(16;5.45e-07)|Lung NSC(185;5.49e-07)|all_neural(13;3.21e-06)|Acute lymphoblastic leukemia(12;3.44e-05)|Breast(487;0.000601)|Renal(390;0.0007)|Colorectal(325;0.00113)|Hepatocellular(190;0.00213)|Glioma(11;0.00223)|Myeloproliferative disorder(586;0.0256)|Ovarian(437;0.04)|Lung SC(97;0.128)|Medulloblastoma(700;0.213)		Epithelial(90;1.69e-36)|GBM - Glioblastoma multiforme(13;5.07e-29)|OV - Ovarian serous cystadenocarcinoma(86;1.05e-19)|Colorectal(212;4.54e-07)|COAD - Colon adenocarcinoma(227;3.14e-05)|Kidney(185;0.00012)|BRCA - Breast invasive adenocarcinoma(365;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00179)|STAD - Stomach adenocarcinoma(132;0.00472)|READ - Rectum adenocarcinoma(331;0.0649)		AATACACAGTCTTTGGCCATG	0.577																																						ENST00000378156.4																			3	Substitution - coding silent(2)|Substitution - Missense(1)	p.K664K(2)|p.K664N(1)	prostate(2)|large_intestine(1)	NS(1)|breast(2)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(4)	47						c.(1990-1992)aaG>aaA		nephronophthisis 4							124	127	126					1																	5964828		2104	4228	6332	SO:0001819	synonymous_variant	261734				actin cytoskeleton organization|cell-cell adhesion|signal transduction|visual behavior	cell-cell junction|centrosome|cilium|microtubule basal body	protein binding|structural molecule activity	g.chr1:5964828C>T	AB014573	CCDS44052.1	1p36	2010-03-26			ENSG00000131697	ENSG00000131697			19104	protein-coding gene	gene with protein product	"nephroretinin", "nephrocystin-4", "POC10 centriolar protein homolog (Chlamydomonas)"	607215				11920287, 12205563	Standard	XR_244787		Approved	SLSN4, KIAA0673, POC10	uc001alq.2	O75161	OTTHUMG00000000701	ENST00000378156.4:c.1992G>A	1.37:g.5964828C>T						NPHP4_ENST00000478423.2_5'UTR	p.K664K	NM_015102.3	NP_055917.1	O75161	NPHP4_HUMAN		Epithelial(90;1.69e-36)|GBM - Glioblastoma multiforme(13;5.07e-29)|OV - Ovarian serous cystadenocarcinoma(86;1.05e-19)|Colorectal(212;4.54e-07)|COAD - Colon adenocarcinoma(227;3.14e-05)|Kidney(185;0.00012)|BRCA - Breast invasive adenocarcinoma(365;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00179)|STAD - Stomach adenocarcinoma(132;0.00472)|READ - Rectum adenocarcinoma(331;0.0649)	16	2257	-	Ovarian(185;0.0634)	all_cancers(23;7.53e-41)|all_epithelial(116;3.96e-23)|all_lung(118;5.12e-09)|all_hematologic(16;5.45e-07)|Lung NSC(185;5.49e-07)|all_neural(13;3.21e-06)|Acute lymphoblastic leukemia(12;3.44e-05)|Breast(487;0.000601)|Renal(390;0.0007)|Colorectal(325;0.00113)|Hepatocellular(190;0.00213)|Glioma(11;0.00223)|Myeloproliferative disorder(586;0.0256)|Ovarian(437;0.04)|Lung SC(97;0.128)|Medulloblastoma(700;0.213)	664					Q8IWC0	Silent	SNP	ENST00000378156.4	37	c.1992G>A	CCDS44052.1																																																																																				0.577	NPHP4-001	KNOWN	non_canonical_polymorphism|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001715.2			18	124	0	0	0	1	0	18	124					T	5964828	C	T	5964828	2	4	45	1	0	0	0	0	0	0	0	1	10581	912	32	3		3	NPHP4	1	5964828	Silent	SNP	C	TCGA-EJ-5495-01A-01D-1576-08		5964828	243285793	1	2387											
C1orf89	79363	broad.mit.edu	37	chr1	16559013	16559013	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccaaaggatacttggagccGatgaccatcctgacgacacc	12	7	9	13	2	0	2	0	2	0	0	2	6	2	4	5	2	2	0	5	2	2	2			TCGA-EJ-5495-01A-01D-1576-08	TCGA-EJ-5495-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a06cd9-5e37-41b7-954f-173a2ab44179	695fd2d7-9426-45e1-81f0-79fbdf6ba0bf	g.chr1:16559013G>T	ENST00000375599.3	-	4	938	c.519C>A	c.(517-519)atC>atA	p.I173I	C1orf134_ENST00000375605.2_5'Flank	NM_030907.3	NP_112169.2	Q9BU20	RSG1_HUMAN	REM2 and RAB-like small GTPase 1	173	Small GTPase-like.				cellular protein localization (GO:0034613)|cilium assembly (GO:0042384)|exocytosis (GO:0006887)|protein transport (GO:0015031)|regulation of exocytosis (GO:0017157)|regulation of vesicle fusion (GO:0031338)|small GTPase mediated signal transduction (GO:0007264)	ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)	GTP binding (GO:0005525)	p.I173I(2)		large_intestine(2)|lung(2)|pancreas(1)|prostate(1)	6						ACTTGGAGCCGATGACCATCC	0.592																																						ENST00000375599.3																			2	Substitution - coding silent(2)	p.I173I(2)	prostate(2)	large_intestine(2)|lung(2)|pancreas(1)|prostate(1)	6						c.(517-519)atC>atA		REM2 and RAB-like small GTPase 1							56	53	54					1																	16559013		2203	4300	6503	SO:0001819	synonymous_variant	79363				cellular protein localization|cilium assembly|exocytosis|protein transport|regulation of exocytosis|regulation of vesicle fusion|small GTPase mediated signal transduction	cilium|microtubule basal body	GTP binding	g.chr1:16559013G>T	BC008702	CCDS171.1	1p36.13	2014-02-21	2011-02-22	2011-02-22	ENSG00000132881	ENSG00000132881			28127	protein-coding gene	gene with protein product	"Rem/Rab-Similar GTPase 1"		"chromosome 1 open reading frame 89"	C1orf89		19767740	Standard	NM_030907		Approved	MGC10731	uc001ayd.3	Q9BU20	OTTHUMG00000002214	ENST00000375599.3:c.519C>A	1.37:g.16559013G>T							p.I173I	NM_030907.3	NP_112169.2	Q9BU20	RSG1_HUMAN			4	938	-			173			Small GTPase-like.		Q5TEV7	Silent	SNP	ENST00000375599.3	37	c.519C>A	CCDS171.1	.	.	.	.	.	.	.	.	.	.	G	8.335	0.827285	0.16749	.	.	ENSG00000132881	ENST00000434014	.	.	.	5.61	-8.57	0.00900	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-16.1618	10.5901	0.45304	0.6751:0.0:0.2348:0.0901	.	.	.	.	X	104	.	.	S	-	2	0	RSG1	16431600	0.010000	0.17322	0.914000	0.36105	0.819000	0.46315	-1.391000	0.02525	-1.137000	0.02888	-0.748000	0.03510	TCG		0.592	RSG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006279.2	NM_030907		3	50	1	0	1	1	1	3	50					T	16559013	G	T	16559013	2	4	45	1	0	0	0	0	0	0	0	1	2066	1048	37	5		5	C1orf89	1	16559013	Silent	SNP	G	TCGA-EJ-5495-01A-01D-1576-08	10594185	16559013	232691608	2	2388											
HP1BP3	50809	broad.mit.edu	37	chr1	21103089	21103089	+	Splice_Site	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caagaagacataactccttaCtcctttttggtttcctcaga	11	14	5	11	0	1	3	1	0	0	3	4	3	4	3	3	1	2	1	3	1	4	5			TCGA-EJ-5495-01A-01D-1576-08	TCGA-EJ-5495-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a06cd9-5e37-41b7-954f-173a2ab44179	695fd2d7-9426-45e1-81f0-79fbdf6ba0bf	g.chr1:21103089C>G	ENST00000312239.5	-	4	490		c.e4+1		HP1BP3_ENST00000375000.1_Splice_Site|HP1BP3_ENST00000487117.1_5'UTR|HP1BP3_ENST00000375003.2_5'Flank	NM_016287.3	NP_057371.2	Q5SSJ5	HP1B3_HUMAN	heterochromatin protein 1, binding protein 3						nucleosome assembly (GO:0006334)	nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.?(1)		central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(5)|prostate(2)|skin(2)|urinary_tract(1)	16		all_lung(284;6.55e-06)|Lung NSC(340;6.59e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(152;1.26e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00015)|GBM - Glioblastoma multiforme(114;0.000521)|Kidney(64;0.000529)|STAD - Stomach adenocarcinoma(196;0.00311)|KIRC - Kidney renal clear cell carcinoma(64;0.00687)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.201)		TAACTCCTTACTCCTTTTTGG	0.368																																						ENST00000312239.5																			1	Unknown(1)	p.?(1)	prostate(1)	central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(5)|prostate(2)|skin(2)|urinary_tract(1)	16						c.e4+1		heterochromatin protein 1, binding protein 3							180	179	180					1																	21103089		2203	4300	6503	SO:0001630	splice_region_variant	50809				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr1:21103089C>G	BC053327	CCDS30621.1	1p36.12	2008-02-05			ENSG00000127483	ENSG00000127483			24973	protein-coding gene	gene with protein product						12477932	Standard	NM_016287		Approved	HP1-BP74	uc001bdw.1	Q5SSJ5	OTTHUMG00000002622	ENST00000312239.5:c.350+1G>C	1.37:g.21103089C>G						HP1BP3_ENST00000375000.1_Splice_Site|HP1BP3_ENST00000487117.1_5'UTR		NM_016287.3	NP_057371.2	Q5SSJ5	HP1B3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(152;1.26e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00015)|GBM - Glioblastoma multiforme(114;0.000521)|Kidney(64;0.000529)|STAD - Stomach adenocarcinoma(196;0.00311)|KIRC - Kidney renal clear cell carcinoma(64;0.00687)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.201)	4	490	-		all_lung(284;6.55e-06)|Lung NSC(340;6.59e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)						A6NI71|A8K5D7|B3KMZ8|B4E210|Q05BI0|Q5SSJ6|Q5SWC6|Q6PIM9|Q8NDF0|Q9UHY0	Splice_Site	SNP	ENST00000312239.5	37		CCDS30621.1	.	.	.	.	.	.	.	.	.	.	C	19.59	3.857102	0.71834	.	.	ENSG00000127483	ENST00000312239;ENST00000375004;ENST00000419948;ENST00000438032;ENST00000424732;ENST00000417710;ENST00000375000	.	.	.	6.07	6.07	0.98685	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.6439	0.99570	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	HP1BP3	20975676	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.681000	0.61663	2.884000	0.98904	0.655000	0.94253	.		0.368	HP1BP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007457.2	NM_016287	Intron	46	243	0	0	0	1	0	46	243					G	21103089	C	G	21103089	5	3	45	1	0	0	0	0	0	0	1	0	7328	579	20	5	1350	5	HP1BP3	1	21103089	Splice_Site	SNP	C	TCGA-EJ-5495-01A-01D-1576-08	4544076	21103089	228147532	3	2389											
HSPG2	3339	broad.mit.edu	37	chr1	22216543	22216543	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggccacagagccgctggagaTgaccctgagcagcatctcct	9	6	12	14	1	1	4	0	2	1	2	2	5	1	4	4	2	3	3	4	2	0	0			TCGA-EJ-5495-01A-01D-1576-08	TCGA-EJ-5495-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a06cd9-5e37-41b7-954f-173a2ab44179	695fd2d7-9426-45e1-81f0-79fbdf6ba0bf	g.chr1:22216543T>A	ENST00000374695.3	-	6	584	c.505A>T	c.(505-507)Atc>Ttc	p.I169F		NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	169	SEA. {ECO:0000255|PROSITE- ProRule:PRU00188}.				angiogenesis (GO:0001525)|brain development (GO:0007420)|carbohydrate metabolic process (GO:0005975)|cardiac muscle tissue development (GO:0048738)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|chondrocyte differentiation (GO:0002062)|chondroitin sulfate metabolic process (GO:0030204)|embryonic skeletal system morphogenesis (GO:0048704)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|lipoprotein metabolic process (GO:0042157)|phototransduction, visible light (GO:0007603)|protein localization (GO:0008104)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	basal lamina (GO:0005605)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)	p.I169F(1)		breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Palifermin(DB00039)	CCGCTGGAGATGACCCTGAGC	0.617																																						ENST00000374695.3																			1	Substitution - Missense(1)	p.I169F(1)	prostate(1)	breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127						c.(505-507)Atc>Ttc		heparan sulfate proteoglycan 2	Becaplermin(DB00102)|Palifermin(DB00039)						166	146	153					1																	22216543		2203	4300	6503	SO:0001583	missense	3339				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding	g.chr1:22216543T>A	M85289	CCDS30625.1	1p36.1-p35	2013-01-29	2007-02-16	2007-02-16	ENSG00000142798	ENSG00000142798		"Proteoglycans / Extracellular Matrix : Other", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5273	protein-coding gene	gene with protein product	"perlecan proteoglycan"	142461	"Schwartz-Jampel syndrome 1 (chondrodystrophic myotonia)"	SJS1		1685141, 11941538	Standard	XM_005245863		Approved	perlecan, PRCAN	uc001bfj.3	P98160	OTTHUMG00000002674	ENST00000374695.3:c.505A>T	1.37:g.22216543T>A	ENSP00000363827:p.Ile169Phe						p.I169F	NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	6	584	-		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)	169			SEA.		Q16287|Q5SZI3|Q9H3V5	Missense_Mutation	SNP	ENST00000374695.3	37	c.505A>T	CCDS30625.1	.	.	.	.	.	.	.	.	.	.	T	14.99	2.700788	0.48307	.	.	ENSG00000142798	ENST00000374695;ENST00000439717	T;T	0.78924	-1.22;0.62	5.44	-9.89	0.00464	SEA (2);	0.869657	0.09527	N	0.790041	T	0.54367	0.1854	N	0.14661	0.345	0.26106	N	0.980756	B	0.27559	0.181	B	0.26416	0.069	T	0.51387	-0.8712	10	0.72032	D	0.01	.	9.4003	0.38428	0.0:0.2966:0.101:0.6024	.	169	P98160	PGBM_HUMAN	F	169;135	ENSP00000363827:I169F;ENSP00000395884:I135F	ENSP00000363827:I169F	I	-	1	0	HSPG2	22089130	0.000000	0.05858	0.010000	0.14722	0.047000	0.14425	-0.881000	0.04179	-1.781000	0.01277	-1.007000	0.02485	ATC		0.617	HSPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007598.1	NM_005529		18	147	0	0	0	1	0	18	147					A	22216543	T	A	22216543	3	1	45	1	0	0	0	0	1	0	0	0	7430	1464	51	5	13038	5	HSPG2	1	22216543	Missense_Mutation	SNP	T	TCGA-EJ-5495-01A-01D-1576-08	1113454	22216543	227034078	4	2390											
TTC4	7268	broad.mit.edu	37	chr1	55186887	55186893	+	Frame_Shift_Del	DEL	CCTGCCA	CCTGCCA	-																															agctgccagaaagctaaaacCctgccacctcaaagcaataa																										TCGA-EJ-5495-01A-01D-1576-08	TCGA-EJ-5495-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a06cd9-5e37-41b7-954f-173a2ab44179	695fd2d7-9426-45e1-81f0-79fbdf6ba0bf	g.chr1:55186887_55186893delCCTGCCA	ENST00000371281.3	+	4	530_536	c.443_449delCCTGCCA	c.(442-450)ccctgccacfs	p.PCH148fs	TTC4_ENST00000371284.5_3'UTR|MROH7-TTC4_ENST00000414150.2_3'UTR	NM_004623.4	NP_004614.3	O95801	TTC4_HUMAN	tetratricopeptide repeat domain 4	148										breast(2)|endometrium(3)|kidney(1)|lung(2)|stomach(1)	9						AAGCTAAAACCCTGCCACCTCAAAGCA	0.357																																						ENST00000371281.3																			0				breast(2)|endometrium(3)|kidney(1)|lung(2)|stomach(1)	9						c.(442-450)ccfs		tetratricopeptide repeat domain 4																																				SO:0001589	frameshift_variant	7268						binding	g.chr1:55186887_55186893delCCTGCCA		CCDS596.1	1p32	2013-01-11			ENSG00000243725	ENSG00000243725		"Tetratricopeptide (TTC) repeat domain containing"	12394	protein-coding gene	gene with protein product		606753				9933562	Standard	NM_004623		Approved	MGC5097, FLJ41930	uc001cxx.4	O95801	OTTHUMG00000009914	ENST00000371281.3:c.443_449delCCTGCCA	1.37:g.55186887_55186893delCCTGCCA	ENSP00000360329:p.Pro148fs					TTC4_ENST00000371284.5_3'UTR|MROH7_ENST00000414150.2_3'UTR	p.PCH148fs	NM_004623.4	NP_004614.3	O95801	TTC4_HUMAN			4	530_536	+			148					Q53Y95|Q5TA96|Q9H3I2	Frame_Shift_Del	DEL	ENST00000371281.3	37	c.443_449delCCTGCCA	CCDS596.1																																																																																				0.357	TTC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027432.1	NM_004623		8	85						8	85	---	---	---	---	-	55186893	CCTGCCA	-	55186887	7	5	45	1	0	1	0	1	0	0	0	0	16707	623	22	0	457	0	TTC4	1	55186887	Frame_Shift_Del	DEL	CCTGCCA	TCGA-EJ-5495-01A-01D-1576-08	32970344	55186887	194063734	5	2391											
SLC22A15	55356	broad.mit.edu	37	chr1	116519322	116519322	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gtacttgtgcttcctgctggCcgtgctgctgcaggtaagtc	4	13	13	11	1	0	0	0	0	0	0	2	0	1	0	2	2	6	7	2	2	2	4			TCGA-EJ-5495-01A-01D-1576-08	TCGA-EJ-5495-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a06cd9-5e37-41b7-954f-173a2ab44179	695fd2d7-9426-45e1-81f0-79fbdf6ba0bf	g.chr1:116519322C>A	ENST00000369503.4	+	1	204	c.74C>A	c.(73-75)gCc>gAc	p.A25D	SLC22A15_ENST00000369502.1_Missense_Mutation_p.A25D	NM_018420.2	NP_060890.2	Q8IZD6	S22AF_HUMAN	solute carrier family 22, member 15	25					ion transport (GO:0006811)	integral component of membrane (GO:0016021)	transmembrane transporter activity (GO:0022857)	p.A25D(2)		endometrium(1)|large_intestine(2)|lung(12)|prostate(1)|urinary_tract(1)	17	Lung SC(450;0.184)	all_cancers(81;3.17e-06)|all_epithelial(167;2.32e-06)|all_lung(203;9.81e-06)|Lung NSC(69;5.94e-05)		Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12)		TTCCTGCTGGCCGTGCTGCTG	0.716																																						ENST00000369503.4																			2	Substitution - Missense(2)	p.A25D(2)	prostate(2)	endometrium(1)|large_intestine(2)|lung(12)|prostate(1)|urinary_tract(1)	17						c.(73-75)gCc>gAc		solute carrier family 22, member 15							55	71	66					1																	116519322		2027	4165	6192	SO:0001583	missense	55356				ion transport	integral to membrane	transmembrane transporter activity	g.chr1:116519322C>A	AY145501	CCDS44198.1	1p12	2013-05-22	2008-01-11		ENSG00000163393	ENSG00000163393		"Solute carriers"	20301	protein-coding gene	gene with protein product		608275	"solute carrier family 22 (organic cation transporter), member 15"			12372408	Standard	NM_018420		Approved	FLIPT1	uc001egb.4	Q8IZD6	OTTHUMG00000012008	ENST00000369503.4:c.74C>A	1.37:g.116519322C>A	ENSP00000358515:p.Ala25Asp					SLC22A15_ENST00000369502.1_Missense_Mutation_p.A25D	p.A25D	NM_018420.2	NP_060890.2	Q8IZD6	S22AF_HUMAN		Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12)	1	204	+	Lung SC(450;0.184)	all_cancers(81;3.17e-06)|all_epithelial(167;2.32e-06)|all_lung(203;9.81e-06)|Lung NSC(69;5.94e-05)	25					A8MUR3|Q6UXP5|Q8TAL9|Q9NSH5	Missense_Mutation	SNP	ENST00000369503.4	37	c.74C>A	CCDS44198.1	.	.	.	.	.	.	.	.	.	.	C	15.81	2.942063	0.53079	.	.	ENSG00000163393	ENST00000369503;ENST00000369502	T;T	0.77229	-1.08;-0.54	4.01	4.01	0.46588	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.329004	0.29009	N	0.013422	T	0.61173	0.2326	L	0.51422	1.61	0.45946	D	0.998773	B;B	0.26258	0.037;0.145	B;B	0.24541	0.016;0.054	T	0.66312	-0.5955	10	0.49607	T	0.09	.	13.5871	0.61937	0.0:1.0:0.0:0.0	.	25;25	Q8IZD6;Q8IZD6-2	S22AF_HUMAN;.	D	25	ENSP00000358515:A25D;ENSP00000358514:A25D	ENSP00000358514:A25D	A	+	2	0	SLC22A15	116320845	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	2.809000	0.47971	1.746000	0.51805	0.313000	0.20887	GCC		0.716	SLC22A15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033220.2	NM_018420		3	36	1	0	1.23904e-05	1	1.3912e-05	3	36					A	116519322	C	A	116519322	3	1	45	1	0	0	0	0	1	0	0	0	14446	739	26	5	76	5	SLC22A15	1	116519322	Missense_Mutation	SNP	C	TCGA-EJ-5495-01A-01D-1576-08	61332435	116519322	132731299	6	2392											
MTX1	4580	broad.mit.edu	37	chr1	155178660	155178660	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccccaaggggccctggagcaGtacaggccacgtgcagtttg	8	6	14	13	1	0	0	0	0	0	0	0	1	0	1	4	4	3	4	4	4	2	2			TCGA-EJ-5495-01A-01D-1576-08	TCGA-EJ-5495-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a06cd9-5e37-41b7-954f-173a2ab44179	695fd2d7-9426-45e1-81f0-79fbdf6ba0bf	g.chr1:155178660G>A	ENST00000368376.3	+	1	171	c.65G>A	c.(64-66)aGt>aAt	p.S22N	MTX1_ENST00000609421.1_5'Flank|MTX1_ENST00000316721.4_Missense_Mutation_p.S22N|THBS3_ENST00000368378.3_5'Flank|THBS3_ENST00000486260.1_Intron|THBS3_ENST00000541990.1_5'Flank|RP11-263K19.6_ENST00000455788.1_RNA|THBS3_ENST00000457183.2_5'Flank	NM_002455.3	NP_002446.2	Q13505	MTX1_HUMAN	metaxin 1	22					cellular protein metabolic process (GO:0044267)|protein targeting to mitochondrion (GO:0006626)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial outer membrane (GO:0005741)		p.S22N(1)		breast(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|skin(1)	7	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			CCCTGGAGCAGTACAGGCCAC	0.697																																						ENST00000368376.3																			1	Substitution - Missense(1)	p.S22N(1)	prostate(1)	breast(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|skin(1)	7						c.(64-66)aGt>aAt		metaxin 1							10	15	13					1																	155178660		2181	4271	6452	SO:0001583	missense	4580				protein targeting to mitochondrion	integral to membrane|mitochondrial outer membrane	protein binding	g.chr1:155178660G>A		CCDS1100.1, CCDS1101.1	1q21	2008-07-18			ENSG00000173171	ENSG00000173171			7504	protein-coding gene	gene with protein product		600605		MTX		7753840	Standard	XM_006711338		Approved	MTXN	uc001fjb.3	Q13505	OTTHUMG00000035708	ENST00000368376.3:c.65G>A	1.37:g.155178660G>A	ENSP00000357360:p.Ser22Asn					MTX1_ENST00000316721.4_Missense_Mutation_p.S22N	p.S22N	NM_002455.3	NP_002446.2	Q13505	MTX1_HUMAN	Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)		1	171	+	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		22					B1AVR9|B1AVS0|B2R9P4|Q9BUU3	Missense_Mutation	SNP	ENST00000368376.3	37	c.65G>A	CCDS1100.1	.	.	.	.	.	.	.	.	.	.	G	12.43	1.934318	0.34096	.	.	ENSG00000173171	ENST00000368376;ENST00000316721	T;T	0.31510	1.49;1.49	4.47	1.24	0.21308	.	0.777811	0.10858	N	0.626478	T	0.07098	0.0180	N	0.24115	0.695	0.09310	N	1	B;B	0.09022	0.002;0.001	B;B	0.04013	0.001;0.001	T	0.35724	-0.9777	10	0.54805	T	0.06	-1.599	5.612	0.17410	0.1218:0.4272:0.451:0.0	.	22;22	Q13505-2;Q13505	.;MTX1_HUMAN	N	22	ENSP00000357360:S22N;ENSP00000317106:S22N	ENSP00000317106:S22N	S	+	2	0	MTX1	153445284	0.000000	0.05858	0.001000	0.08648	0.237000	0.25408	0.307000	0.19296	0.474000	0.27392	-0.305000	0.09177	AGT		0.697	MTX1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000086844.1	NM_198883		5	26	0	0	0	1	0	5	26					A	155178660	G	A	155178660	3	1	45	1	0	0	0	0	1	0	0	0	9967	1029	36	3	67	3	MTX1	1	155178660	Missense_Mutation	SNP	G	TCGA-EJ-5495-01A-01D-1576-08	38659338	155178660	94071961	7	2393											
ASH1L	55870	broad.mit.edu	37	chr1	155448258	155448258	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggccatctcaggaggaacaCtggggtaggtactcatggaa	12	7	14	8	0	2	0	2	0	1	0	3	3	2	3	1	7	2	2	1	7	4	2			TCGA-EJ-5495-01A-01D-1576-08	TCGA-EJ-5495-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a06cd9-5e37-41b7-954f-173a2ab44179	695fd2d7-9426-45e1-81f0-79fbdf6ba0bf	g.chr1:155448258C>A	ENST00000368346.3	-	3	5042	c.4403G>T	c.(4402-4404)aGt>aTt	p.S1468I	ASH1L_ENST00000392403.3_Missense_Mutation_p.S1468I			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	1468					cell-cell signaling (GO:0007267)|DNA packaging (GO:0006323)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|tight junction (GO:0005923)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)	p.S1468I(1)		autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			AGGAGGAACACTGGGGTAGGT	0.488																																						ENST00000368346.3																			1	Substitution - Missense(1)	p.S1468I(1)	prostate(1)	autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124						c.(4402-4404)aGt>aTt		ash1 (absent, small, or homeotic)-like (Drosophila)							137	130	132					1																	155448258		2203	4300	6503	SO:0001583	missense	55870				cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|Golgi apparatus|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding	g.chr1:155448258C>A	AB037841	CCDS1113.2	1q22	2013-01-28			ENSG00000116539	ENSG00000116539		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	19088	protein-coding gene	gene with protein product		607999				10860993, 16545939	Standard	NM_018489		Approved	huASH1, ASH1, ASH1L1, KMT2H	uc001fkt.3	Q9NR48	OTTHUMG00000014011	ENST00000368346.3:c.4403G>T	1.37:g.155448258C>A	ENSP00000357330:p.Ser1468Ile					ASH1L_ENST00000392403.3_Missense_Mutation_p.S1468I	p.S1468I			Q9NR48	ASH1L_HUMAN	Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)		3	5042	-	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		1468					Q59GP1|Q5T714|Q5T715|Q9P2C7	Missense_Mutation	SNP	ENST00000368346.3	37	c.4403G>T		.	.	.	.	.	.	.	.	.	.	C	13.73	2.325692	0.41197	.	.	ENSG00000116539	ENST00000368346;ENST00000392403	D;D	0.89343	-2.5;-2.5	5.44	4.51	0.55191	.	0.190148	0.47852	D	0.000220	T	0.71888	0.3393	N	0.14661	0.345	0.80722	D	1	B;B	0.10296	0.002;0.003	B;B	0.09377	0.002;0.004	T	0.70637	-0.4817	10	0.54805	T	0.06	.	15.2272	0.73359	0.1418:0.8582:0.0:0.0	.	1468;1468	Q9NR48;Q9NR48-2	ASH1L_HUMAN;.	I	1468	ENSP00000357330:S1468I;ENSP00000376204:S1468I	ENSP00000357330:S1468I	S	-	2	0	ASH1L	153714882	1.000000	0.71417	0.916000	0.36221	0.884000	0.51177	4.418000	0.59828	1.496000	0.48567	0.655000	0.94253	AGT		0.488	ASH1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000039400.1	NM_018489		35	175	1	0	9.04072e-19	1	1.15721e-18	35	175					A	155448258	C	A	155448258	3	1	45	1	0	0	0	0	1	0	0	0	1041	565	20	5	4595	5	ASH1L	1	155448258	Missense_Mutation	SNP	C	TCGA-EJ-5495-01A-01D-1576-08	269598	155448258	93802363	8	2394											
FASLG	356	broad.mit.edu	37	chr1	172635069	172635069	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagtgttcaatcttaccagTgctgatcatttatatgtcaa	11	15	7	8	0	4	1	3	1	1	0	4	1	4	1	1	0	2	3	1	0	5	5			TCGA-EJ-5495-01A-01D-1576-08	TCGA-EJ-5495-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a06cd9-5e37-41b7-954f-173a2ab44179	695fd2d7-9426-45e1-81f0-79fbdf6ba0bf	g.chr1:172635069T>G	ENST00000367721.2	+	4	943	c.759T>G	c.(757-759)agT>agG	p.S253R	FASLG_ENST00000340030.3_3'UTR	NM_000639.1	NP_000630.1	P48023	TNFL6_HUMAN	Fas ligand (TNF superfamily, member 6)	253					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cell-cell signaling (GO:0007267)|cellular chloride ion homeostasis (GO:0030644)|endosomal lumen acidification (GO:0048388)|extrinsic apoptotic signaling pathway (GO:0097191)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|immune response (GO:0006955)|inflammatory cell apoptotic process (GO:0006925)|necroptotic process (GO:0070266)|necroptotic signaling pathway (GO:0097527)|negative regulation of angiogenesis (GO:0016525)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell apoptotic process (GO:2000353)|positive regulation of epidermal growth factor receptor signaling pathway (GO:0045742)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of neuron apoptotic process (GO:0043525)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|response to growth factor (GO:0070848)|response to lipopolysaccharide (GO:0032496)|retinal cell programmed cell death (GO:0046666)|signal transduction (GO:0007165)|T cell apoptotic process (GO:0070231)|transcription, DNA-templated (GO:0006351)	caveola (GO:0005901)|cytoplasmic membrane-bounded vesicle (GO:0016023)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	receptor binding (GO:0005102)	p.S253R(1)		breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(12)|prostate(1)|skin(1)	19						ATCTTACCAGTGCTGATCATT	0.473																																					Ovarian(28;486 876 30334 44033)	ENST00000367721.2																			1	Substitution - Missense(1)	p.S253R(1)	prostate(1)	breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(12)|prostate(1)|skin(1)	19						c.(757-759)agT>agG		Fas ligand (TNF superfamily, member 6)							90	88	89					1																	172635069		2203	4300	6503	SO:0001583	missense	356				activation of caspase activity|activation of pro-apoptotic gene products|cell-cell signaling|immune response|induction of necroptosis by extracellular signals|induction of necroptosis of activated-T cells|necrotic cell death|negative regulation of angiogenesis|positive regulation of I-kappaB kinase/NF-kappaB cascade|signal transduction	extracellular space|integral to plasma membrane	cytokine activity	g.chr1:172635069T>G	U11821	CCDS1304.1	1q23	2014-09-17	2005-01-07	2005-01-07	ENSG00000117560	ENSG00000117560		"Tumor necrosis factor (ligand) superfamily", "CD molecules", "Endogenous ligands"	11936	protein-coding gene	gene with protein product		134638	"tumor necrosis factor (ligand) superfamily, member 6"	APT1LG1, TNFSF6		7826947, 9022072	Standard	NM_000639		Approved	FasL, CD178	uc001gis.3	P48023	OTTHUMG00000034841	ENST00000367721.2:c.759T>G	1.37:g.172635069T>G	ENSP00000356694:p.Ser253Arg					FASLG_ENST00000340030.3_3'UTR	p.S253R	NM_000639.1	NP_000630.1	P48023	TNFL6_HUMAN			4	943	+			253					Q9BZP9	Missense_Mutation	SNP	ENST00000367721.2	37	c.759T>G	CCDS1304.1	.	.	.	.	.	.	.	.	.	.	T	8.988	0.976912	0.18812	.	.	ENSG00000117560	ENST00000367721	T	0.62232	0.04	5.34	1.48	0.22813	Tumour necrosis factor (3);Tumour necrosis factor-like (2);	0.794140	0.12209	N	0.489535	T	0.12774	0.0310	N	0.04355	-0.22	0.09310	N	1	B	0.10296	0.003	B	0.13407	0.009	T	0.26573	-1.0099	10	0.20519	T	0.43	0.1133	2.9927	0.05988	0.1348:0.0837:0.4004:0.381	.	253	P48023	TNFL6_HUMAN	R	253	ENSP00000356694:S253R	ENSP00000356694:S253R	S	+	3	2	FASLG	170901692	0.001000	0.12720	0.662000	0.29724	0.776000	0.43924	0.304000	0.19228	0.337000	0.23665	0.528000	0.53228	AGT		0.473	FASLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084276.1			37	208	0	0	0	1	0	37	208					G	172635069	T	G	172635069	3	3	45	1	0	0	0	0	1	0	0	0	5682	1693	59	5	773	5	FASLG	1	172635069	Missense_Mutation	SNP	T	TCGA-EJ-5495-01A-01D-1576-08	17186811	172635069	76615552	9	2395											
RASAL2	9462	broad.mit.edu	37	chr1	178433459	178433461	+	In_Frame_Del	DEL	CAG	CAG	-																															aatgtccccagtagagaggaCagcagcctgggttctgaaca																										TCGA-EJ-5495-01A-01D-1576-08	TCGA-EJ-5495-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a06cd9-5e37-41b7-954f-173a2ab44179	695fd2d7-9426-45e1-81f0-79fbdf6ba0bf	g.chr1:178433459_178433461delCAG	ENST00000462775.1	+	13	3001_3003	c.2876_2878delCAG	c.(2875-2880)acagca>aca	p.A961del	RASAL2_ENST00000448150.3_In_Frame_Del_p.A1091del|RASAL2_ENST00000367649.3_In_Frame_Del_p.A1102del	NM_004841.3	NP_004832.1	Q9UJF2	NGAP_HUMAN	RAS protein activator like 2	961					negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	Ras GTPase activator activity (GO:0005099)			biliary_tract(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(2)|lung(25)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54						GTAGAGAGGACAGCAGCCTGGGT	0.483																																						ENST00000448150.3																			0				biliary_tract(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(2)|lung(25)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54						c.(3265-3270)aca>a		RAS protein activator like 2																																				SO:0001651	inframe_deletion	9462				negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity	g.chr1:178433459_178433461delCAG	AF047711	CCDS1321.1, CCDS1322.1, CCDS1321.2	1q25	2013-01-10			ENSG00000075391	ENSG00000075391		"Pleckstrin homology (PH) domain containing"	9874	protein-coding gene	gene with protein product	"Ras GTPase activating protein-like", "Ras protein activator like 1"	606136				9877179	Standard	NM_004841		Approved	nGAP	uc001glq.3	Q9UJF2	OTTHUMG00000035022	ENST00000462775.1:c.2876_2878delCAG	1.37:g.178433462_178433464delCAG	ENSP00000420558:p.Ala961del					RASAL2_ENST00000462775.1_In_Frame_Del_p.TA959del|RASAL2_ENST00000367649.3_In_Frame_Del_p.TA1100del	p.TA1089del	NM_170692.2	NP_733793.2	Q9UJF2	NGAP_HUMAN			15	4084_4086	+			959					F8W755|O95174|Q2TB22|Q5TFU9	In_Frame_Del	DEL	ENST00000462775.1	37	c.3266_3268delCAG	CCDS1322.1																																																																																				0.483	RASAL2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000084758.3	NM_170692		14	103						14	103	---	---	---	---	-	178433461	CAG	-	178433459	7	5	45	1	0	1	0	1	0	0	0	0	13064	478	17	0	3395	0	RASAL2	1	178433459	In_Frame_Del	DEL	CAG	TCGA-EJ-5495-01A-01D-1576-08	5798390	178433459	70817162	10	2396											
PLXNA2	5362	broad.mit.edu	37	chr1	208390820	208390820	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ctccttcttgtgggatggctCcaccaggatgaagaggtcat	8	11	12	10	0	2	2	1	1	1	1	4	4	4	4	3	4	0	1	3	4	1	2			TCGA-EJ-5495-01A-01D-1576-08	TCGA-EJ-5495-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a06cd9-5e37-41b7-954f-173a2ab44179	695fd2d7-9426-45e1-81f0-79fbdf6ba0bf	g.chr1:208390820C>T	ENST00000367033.3	-	2	1205	c.448G>A	c.(448-450)Gag>Aag	p.E150K		NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN	plexin A2	150	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|centrosome localization (GO:0051642)|cerebellar granule cell precursor tangential migration (GO:0021935)|limb bud formation (GO:0060174)|neural tube development (GO:0021915)|pharyngeal system development (GO:0060037)|regulation of cell migration (GO:0030334)|semaphorin-plexin signaling pathway (GO:0071526)|somitogenesis (GO:0001756)	integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)	p.E150K(1)		NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80				OV - Ovarian serous cystadenocarcinoma(81;0.199)		TGGGATGGCTCCACCAGGATG	0.582																																						ENST00000367033.3																			1	Substitution - Missense(1)	p.E150K(1)	prostate(1)	NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80						c.(448-450)Gag>Aag		plexin A2							141	142	141					1																	208390820		2203	4300	6503	SO:0001583	missense	5362				axon guidance	integral to membrane|intracellular|plasma membrane		g.chr1:208390820C>T	X87831	CCDS31013.1	1q32.2	2008-07-18			ENSG00000076356	ENSG00000076356		"Plexins"	9100	protein-coding gene	gene with protein product	"plexin 2", "plexin-A2", "semaphorin receptor OCT", "transmembrane protein OCT"	601054		PLXN2		8570614	Standard	NM_025179		Approved	OCT, FLJ11751, FLJ30634, KIAA0463	uc001hgz.3	O75051	OTTHUMG00000036564	ENST00000367033.3:c.448G>A	1.37:g.208390820C>T	ENSP00000356000:p.Glu150Lys						p.E150K	NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.199)	2	1205	-			150			Sema.		A2RTX9|B2RMX7|Q6UX61|Q96GN9|Q9BRL1|Q9UIW1	Missense_Mutation	SNP	ENST00000367033.3	37	c.448G>A	CCDS31013.1	.	.	.	.	.	.	.	.	.	.	C	32	5.119127	0.94385	.	.	ENSG00000076356	ENST00000367033	T	0.05081	3.5	5.71	5.71	0.89125	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.000000	0.85682	D	0.000000	T	0.29158	0.0725	M	0.79343	2.45	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.997	T	0.00575	-1.1663	10	0.66056	D	0.02	.	19.85	0.96736	0.0:1.0:0.0:0.0	.	204;150	O75051-2;O75051	.;PLXA2_HUMAN	K	150	ENSP00000356000:E150K	ENSP00000356000:E150K	E	-	1	0	PLXNA2	206457443	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.538000	0.82048	2.697000	0.92050	0.563000	0.77884	GAG		0.582	PLXNA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088932.6	NM_025179		8	274	0	0	0	1	0	8	274					T	208390820	C	T	208390820	3	4	45	1	0	0	0	0	1	0	0	0	12120	864	30	3	5360	3	PLXNA2	1	208390820	Missense_Mutation	SNP	C	TCGA-EJ-5495-01A-01D-1576-08	29957361	208390820	40859801	11	2397											
SNTG2	54221	broad.mit.edu	37	chr2	1168808	1168808	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccatccagcgaccacagcaGtggggcctcctctcccctct	6	7	9	19	1	2	0	0	0	2	0	5	1	4	0	7	2	2	1	7	2	0	0			TCGA-EJ-5495-01A-01D-1576-08	TCGA-EJ-5495-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a06cd9-5e37-41b7-954f-173a2ab44179	695fd2d7-9426-45e1-81f0-79fbdf6ba0bf	g.chr2:1168808G>T	ENST00000308624.5	+	8	659	c.530G>T	c.(529-531)aGt>aTt	p.S177I	SNTG2_ENST00000467759.1_3'UTR|SNTG2_ENST00000407292.1_Intron	NM_018968.3	NP_061841.2	Q9NY99	SNTG2_HUMAN	syntrophin, gamma 2	177					central nervous system development (GO:0007417)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|syntrophin complex (GO:0016013)	PDZ domain binding (GO:0030165)	p.S177I(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.00469)		all cancers(51;0.0178)|OV - Ovarian serous cystadenocarcinoma(76;0.07)|Epithelial(75;0.0864)|GBM - Glioblastoma multiforme(21;0.173)		GACCACAGCAGTGGGGCCTCC	0.488																																						ENST00000308624.5																			1	Substitution - Missense(1)	p.S177I(1)	prostate(1)	breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						c.(529-531)aGt>aTt		syntrophin, gamma 2							139	145	143					2																	1168808		1966	4151	6117	SO:0001583	missense	54221				central nervous system development	cytoplasm|cytoskeleton|sarcolemma|syntrophin complex	actin binding|PDZ domain binding	g.chr2:1168808G>T	AJ003029	CCDS46220.1	2p25	2008-05-23			ENSG00000172554	ENSG00000172554			13741	protein-coding gene	gene with protein product		608715				10747910	Standard	NM_018968		Approved	SYN5, G2SYN	uc002qwq.3	Q9NY99	OTTHUMG00000151370	ENST00000308624.5:c.530G>T	2.37:g.1168808G>T	ENSP00000311837:p.Ser177Ile					SNTG2_ENST00000467759.1_3'UTR|SNTG2_ENST00000407292.1_Intron	p.S177I	NM_018968.3	NP_061841.2	Q9NY99	SNTG2_HUMAN		all cancers(51;0.0178)|OV - Ovarian serous cystadenocarcinoma(76;0.07)|Epithelial(75;0.0864)|GBM - Glioblastoma multiforme(21;0.173)	8	659	+	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.00469)	177					Q05AH5	Missense_Mutation	SNP	ENST00000308624.5	37	c.530G>T	CCDS46220.1	.	.	.	.	.	.	.	.	.	.	G	18.75	3.691264	0.68271	.	.	ENSG00000172554	ENST00000308624	T	0.42131	0.98	4.73	4.73	0.59995	.	0.000000	0.85682	D	0.000000	T	0.64843	0.2635	M	0.78049	2.395	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	T	0.67593	-0.5631	10	0.46703	T	0.11	.	15.4969	0.75662	0.0:0.0:1.0:0.0	.	177	Q9NY99	SNTG2_HUMAN	I	177	ENSP00000311837:S177I	ENSP00000311837:S177I	S	+	2	0	SNTG2	1158808	1.000000	0.71417	0.944000	0.38274	0.651000	0.38670	6.238000	0.72350	2.151000	0.67156	0.643000	0.83706	AGT		0.488	SNTG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322454.1	NM_018968		47	335	1	0	4.29476e-34	1	5.66731e-34	47	335					T	1168808	G	T	1168808	3	4	45	1	0	0	0	0	1	0	0	0	14875	1029	36	5	560	5	SNTG2	2	1168808	Missense_Mutation	SNP	G	TCGA-EJ-5495-01A-01D-1576-08		1168808	242030565	12	2398											
PROKR1	10887	broad.mit.edu	37	chr2	68873392	68873392	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaactacctgcgcactgtcTctctctatgtctccaccaat	8	13	4	16	1	4	0	1	0	3	0	7	0	4	0	3	0	3	1	3	0	4	2	rs35335568		TCGA-EJ-5495-01A-01D-1576-08	TCGA-EJ-5495-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a06cd9-5e37-41b7-954f-173a2ab44179	695fd2d7-9426-45e1-81f0-79fbdf6ba0bf	g.chr2:68873392T>A	ENST00000303786.3	+	2	859	c.439T>A	c.(439-441)Tct>Act	p.S147T	PROKR1_ENST00000394342.2_Missense_Mutation_p.S147T			Q8TCW9	PKR1_HUMAN	prokineticin receptor 1	147					negative regulation of apoptotic process (GO:0043066)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	neuropeptide Y receptor activity (GO:0004983)	p.S147T(1)		endometrium(3)|kidney(2)|large_intestine(14)|lung(9)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						GCGCACTGTCTCTCTCTATGT	0.592																																						ENST00000303786.3																			1	Substitution - Missense(1)	p.S147T(1)	prostate(1)	endometrium(3)|kidney(2)|large_intestine(14)|lung(9)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						c.(439-441)Tct>Act		prokineticin receptor 1							103	95	98					2																	68873392		2203	4300	6503	SO:0001583	missense	10887					integral to membrane|plasma membrane	neuropeptide Y receptor activity	g.chr2:68873392T>A	AF506287	CCDS1889.1	2p14	2012-08-08	2006-02-15	2006-02-15	ENSG00000169618	ENSG00000169618		"GPCR / Class A : Prokineticin receptors"	4524	protein-coding gene	gene with protein product		607122	"G protein-coupled receptor 73"	GPR73		10760605	Standard	NM_138964		Approved	PKR1, ZAQ, GPR73a	uc010yqj.2	Q8TCW9	OTTHUMG00000129567	ENST00000303786.3:c.439T>A	2.37:g.68873392T>A	ENSP00000303775:p.Ser147Thr					PROKR1_ENST00000394342.2_Missense_Mutation_p.S147T	p.S147T			Q8TCW9	PKR1_HUMAN			2	859	+			147					A5JUU2|Q53QT9|Q8NFJ7	Missense_Mutation	SNP	ENST00000303786.3	37	c.439T>A	CCDS1889.1	.	.	.	.	.	.	.	.	.	.	T	26.4	4.736496	0.89482	.	.	ENSG00000169618	ENST00000303786;ENST00000394342	T;T	0.39056	1.1;1.1	5.21	5.21	0.72293	GPCR, rhodopsin-like superfamily (1);	0.202342	0.53938	D	0.000051	T	0.60261	0.2255	M	0.64997	1.995	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.59364	-0.7468	10	0.42905	T	0.14	.	13.3807	0.60766	0.0:0.0:0.0:1.0	.	147	Q8TCW9	PKR1_HUMAN	T	147	ENSP00000303775:S147T;ENSP00000377874:S147T	ENSP00000303775:S147T	S	+	1	0	PROKR1	68726896	1.000000	0.71417	0.999000	0.59377	0.989000	0.77384	7.728000	0.84847	2.330000	0.79161	0.528000	0.53228	TCT		0.592	PROKR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251760.2			8	213	0	0	0	1	0	8	213					A	68873392	T	A	68873392	3	1	45	1	0	0	0	0	1	0	0	0	12552	1551	54	5	441	5	PROKR1	2	68873392	Missense_Mutation	SNP	T	TCGA-EJ-5495-01A-01D-1576-08	67704584	68873392	174325981	13	2399											
REV1	51455	broad.mit.edu	37	chr2	100055101	100055102	+	Frame_Shift_Ins	INS	-	-	T																															tgcagacctgcctgttttcaINSttttttttaacttttccctt																										TCGA-EJ-5495-01A-01D-1576-08	TCGA-EJ-5495-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a06cd9-5e37-41b7-954f-173a2ab44179	695fd2d7-9426-45e1-81f0-79fbdf6ba0bf	g.chr2:100055101_100055102insT	ENST00000258428.3	-	6	1402_1403	c.1174_1175insA	c.(1174-1176)atgfs	p.M392fs	REV1_ENST00000393445.3_Frame_Shift_Ins_p.M392fs|REV1_ENST00000465835.1_5'UTR	NM_001037872.1|NM_016316.2	NP_001032961.1|NP_057400.1	Q9UBZ9	REV1_HUMAN	REV1, polymerase (DNA directed)	392					DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA-dependent DNA replication (GO:0006261)|error-prone translesion synthesis (GO:0042276)|response to UV (GO:0009411)	nucleoplasm (GO:0005654)	damaged DNA binding (GO:0003684)|deoxycytidyl transferase activity (GO:0017125)|DNA-directed DNA polymerase activity (GO:0003887)|magnesium ion binding (GO:0000287)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(14)|lung(12)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GCCTGTTTTCATTTTTTTTAAC	0.351								Direct reversal of damage																														ENST00000258428.3																			0				NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(14)|lung(12)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						c.(1174-1176)gaafs	Direct reversal of damage	REV1, polymerase (DNA directed)																																				SO:0001589	frameshift_variant	51455				DNA replication|error-prone translesion synthesis|response to UV	nucleoplasm	damaged DNA binding|DNA-directed DNA polymerase activity|magnesium ion binding|protein binding	g.chr2:100055101_100055102insT	AF206019	CCDS2045.1, CCDS42722.1	2q11.1-q11.2	2012-05-18	2012-05-18	2006-11-07	ENSG00000135945	ENSG00000135945		"DNA polymerases"	14060	protein-coding gene	gene with protein product		606134	"REV1 (yeast homolog)- like", "REV1-like (yeast)", "REV1 homolog (S. cerevisiae)"	REV1L		10536157	Standard	XM_005263968		Approved		uc002tad.3	Q9UBZ9	OTTHUMG00000130636	ENST00000258428.3:c.1175dupA	2.37:g.100055109_100055109dupT	ENSP00000258428:p.Met392fs					REV1_ENST00000465835.1_5'UTR|REV1_ENST00000393445.3_Frame_Shift_Ins_p.E392fs	p.E392fs	NM_001037872.1|NM_016316.2	NP_001032961.1|NP_057400.1	Q9UBZ9	REV1_HUMAN			6	1402_1403	-			392					O95941|Q53SI7|Q9C0J4|Q9NUP2	Frame_Shift_Ins	INS	ENST00000258428.3	37	c.1174_1175insA	CCDS2045.1																																																																																				0.351	REV1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253123.2	NM_016316		9	263						9	263	---	---	---	---	T	100055102	-	T	100055101	7	5	45	1	0	1	1	0	0	0	0	0	13239	217	8	0	2652	0	REV1	2	100055101	Frame_Shift_Ins	INS	-	TCGA-EJ-5495-01A-01D-1576-08	31181709	100055101	143144272	14	2400											
MRPS9	64965	broad.mit.edu	37	chr2	105706377	105706377	+	Splice_Site	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atatatgtgatattttaacaGagacgtgattggcagcagat	14	13	10	4	1	0	4	0	2	0	2	0	5	0	4	0	1	2	2	0	1	4	6			TCGA-EJ-5495-01A-01D-1576-08	TCGA-EJ-5495-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a06cd9-5e37-41b7-954f-173a2ab44179	695fd2d7-9426-45e1-81f0-79fbdf6ba0bf	g.chr2:105706377G>C	ENST00000258455.3	+	7	685		c.e7-1			NM_182640.2	NP_872578.1	P82933	RT09_HUMAN	mitochondrial ribosomal protein S9						DNA damage response, detection of DNA damage (GO:0042769)|peptide biosynthetic process (GO:0043043)|translation (GO:0006412)	mitochondrial small ribosomal subunit (GO:0005763)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)	p.?(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	18						TATTTTAACAGAGACGTGATT	0.303																																						ENST00000258455.3																			1	Unknown(1)	p.?(1)	prostate(1)	breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	18						c.e7-1		mitochondrial ribosomal protein S9							89	102	97					2																	105706377		2203	4300	6503	SO:0001630	splice_region_variant	64965				DNA damage response, detection of DNA damage|translation	mitochondrial small ribosomal subunit	protein binding|structural constituent of ribosome	g.chr2:105706377G>C		CCDS2065.1	2q12.1	2012-09-13			ENSG00000135972	ENSG00000135972		"Mitochondrial ribosomal proteins / small subunits"	14501	protein-coding gene	gene with protein product	"28S ribosomal protein S9, mitochondrial"	611975				11279123	Standard	NM_182640		Approved	RPMS9, MRP-S9, S9mt	uc002tcn.4	P82933	OTTHUMG00000130807	ENST00000258455.3:c.576-1G>C	2.37:g.105706377G>C								NM_182640.2	NP_872578.1	P82933	RT09_HUMAN			7	685	+								Q6PG40	Splice_Site	SNP	ENST00000258455.3	37		CCDS2065.1	.	.	.	.	.	.	.	.	.	.	G	18.50	3.636936	0.67130	.	.	ENSG00000135972	ENST00000258455	.	.	.	5.82	5.82	0.92795	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.0966	0.97849	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	MRPS9	105072809	1.000000	0.71417	1.000000	0.80357	0.910000	0.53928	6.778000	0.75043	2.751000	0.94390	0.650000	0.86243	.		0.303	MRPS9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253352.1	NM_182640	Intron	17	56	0	0	0	1	0	17	56					C	105706377	G	C	105706377	5	2	45	1	0	0	0	0	0	0	1	0	9849	956	33	5	601	5	MRPS9	2	105706377	Splice_Site	SNP	G	TCGA-EJ-5495-01A-01D-1576-08	5651276	105706377	137492996	15	2401											
TTN	7273	broad.mit.edu	37	chr2	179438165	179438165	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgaatctttagtaatagttgTcacttcagggtttttgggcg	8	16	11	6	2	3	0	2	0	1	0	3	1	3	0	0	2	0	3	0	2	4	8			TCGA-EJ-5495-01A-01D-1576-08	TCGA-EJ-5495-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a06cd9-5e37-41b7-954f-173a2ab44179	695fd2d7-9426-45e1-81f0-79fbdf6ba0bf	g.chr2:179438165T>C	ENST00000591111.1	-	276	67995	c.67771A>G	c.(67771-67773)Aca>Gca	p.T22591A	TTN_ENST00000359218.5_Missense_Mutation_p.T15292A|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.T15359A|TTN_ENST00000460472.2_Missense_Mutation_p.T15167A|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.T24232A|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.T21664A|TTN-AS1_ENST00000586452.1_RNA			Q8WZ42	TITIN_HUMAN	titin	22591	Fibronectin type-III 64. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.T15167A(2)|p.T15292A(1)|p.T15359A(1)|p.T21662A(1)|p.T21664A(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GTAATAGTTGTCACTTCAGGG	0.458																																						ENST00000589042.1																			6	Substitution - Missense(6)	p.T15167A(2)|p.T15292A(1)|p.T15359A(1)|p.T21662A(1)|p.T21664A(1)	prostate(6)	NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(72694-72696)Aca>Gca		titin							86	86	86					2																	179438165		1908	4115	6023	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179438165T>C	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.67771A>G	2.37:g.179438165T>C	ENSP00000465570:p.Thr22591Ala					TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.T22591A|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.T21664A|TTN_ENST00000342175.6_Missense_Mutation_p.T15359A|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.T15292A|TTN_ENST00000460472.2_Missense_Mutation_p.T15167A|TTN-AS1_ENST00000456053.1_RNA	p.T24232A	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		326	72918	-			22591			Ig-like 121.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.72694A>G		.	.	.	.	.	.	.	.	.	.	T	11.94	1.789455	0.31685	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.58940	0.3;0.3;0.3;0.3	6.08	6.08	0.98989	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.72260	0.3438	L	0.52573	1.65	0.80722	D	1	D;D;D;D	0.76494	0.999;0.999;0.999;0.999	D;D;D;D	0.83275	0.996;0.996;0.996;0.996	T	0.74325	-0.3702	9	0.87932	D	0	.	16.6438	0.85155	0.0:0.0:0.0:1.0	.	15167;15292;15359;22591	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	A	21664;15167;15359;15292;15165	ENSP00000343764:T21664A;ENSP00000434586:T15167A;ENSP00000340554:T15359A;ENSP00000352154:T15292A	ENSP00000340554:T15359A	T	-	1	0	TTN	179146411	1.000000	0.71417	0.367000	0.25926	0.661000	0.39034	8.040000	0.89188	2.333000	0.79357	0.533000	0.62120	ACA		0.458	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		38	183	0	0	0	1	0	38	183					C	179438165	T	C	179438165	3	2	45	1	0	0	0	0	1	0	0	0	16732	1667	58	4	35433	4	TTN	2	179438165	Missense_Mutation	SNP	T	TCGA-EJ-5495-01A-01D-1576-08	73731788	179438165	63761208	16	2402											
NGLY1	55768	broad.mit.edu	37	chr3	25792603	25792603	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tactacctttatccaattttCtagctctcgataacttttct	9	19	2	11	1	3	0	0	0	3	0	5	1	4	0	2	0	4	1	2	0	6	10			TCGA-EJ-5495-01A-01D-1576-08	TCGA-EJ-5495-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a06cd9-5e37-41b7-954f-173a2ab44179	695fd2d7-9426-45e1-81f0-79fbdf6ba0bf	g.chr3:25792603C>G	ENST00000280700.5	-	4	804	c.644G>C	c.(643-645)aGa>aCa	p.R215T	NGLY1_ENST00000396649.3_Missense_Mutation_p.R215T|NGLY1_ENST00000428257.1_Missense_Mutation_p.R215T|NGLY1_ENST00000422724.2_Missense_Mutation_p.R138T|NGLY1_ENST00000417874.2_Missense_Mutation_p.R173T	NM_018297.3	NP_060767.2	Q96IV0	NGLY1_HUMAN	N-glycanase 1	215					glycoprotein catabolic process (GO:0006516)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|peptide-N4-(N-acetyl-beta-glucosaminyl)asparagine amidase activity (GO:0000224)	p.R215T(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(2)|skin(1)	18						ATCCAATTTTCTAGCTCTCGA	0.348																																						ENST00000428257.1																			1	Substitution - Missense(1)	p.R215T(1)	prostate(1)	breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(2)|skin(1)	18						c.(643-645)aGa>aCa		N-glycanase 1							169	165	166					3																	25792603		2203	4300	6503	SO:0001583	missense	55768				glycoprotein catabolic process	cytoplasm	metal ion binding|peptide-N4-(N-acetyl-beta-glucosaminyl)asparagine amidase activity|protein binding	g.chr3:25792603C>G	AF250924	CCDS33719.1, CCDS46777.1, CCDS46778.1, CCDS46779.1	3p23	2006-08-30			ENSG00000151092	ENSG00000151092			17646	protein-coding gene	gene with protein product		610661					Standard	NM_018297		Approved	FLJ11005, PNG1	uc003cdl.3	Q96IV0	OTTHUMG00000155600	ENST00000280700.5:c.644G>C	3.37:g.25792603C>G	ENSP00000280700:p.Arg215Thr					NGLY1_ENST00000417874.2_Missense_Mutation_p.R173T|NGLY1_ENST00000280700.5_Missense_Mutation_p.R215T|NGLY1_ENST00000396649.3_Missense_Mutation_p.R215T|NGLY1_ENST00000422724.2_Missense_Mutation_p.R138T	p.R215T	NM_001145293.1	NP_001138765.1	Q96IV0	NGLY1_HUMAN			4	751	-			215					B4DJE9|Q59FB1|Q6PJD8|Q9BVR8|Q9NR70	Missense_Mutation	SNP	ENST00000280700.5	37	c.644G>C	CCDS33719.1	.	.	.	.	.	.	.	.	.	.	C	15.51	2.853777	0.51270	.	.	ENSG00000151092	ENST00000428257;ENST00000280700;ENST00000396649;ENST00000308710;ENST00000422724;ENST00000417874	T;T;T;T;T;T	0.21191	2.14;2.14;2.14;2.14;2.02;2.14	5.76	4.71	0.59529	.	0.292925	0.43110	D	0.000615	T	0.14184	0.0343	L	0.42245	1.32	0.28808	N	0.898388	B;B;B;B	0.11235	0.002;0.002;0.002;0.004	B;B;B;B	0.08055	0.002;0.002;0.003;0.001	T	0.16808	-1.0390	10	0.13108	T	0.6	-19.3495	5.6206	0.17455	0.0:0.6263:0.181:0.1926	.	173;215;215;215	B4DJE9;Q96IV0-2;Q96IV0-3;Q96IV0	.;.;.;NGLY1_HUMAN	T	215;215;215;212;138;173	ENSP00000387430:R215T;ENSP00000280700:R215T;ENSP00000379886:R215T;ENSP00000307980:R212T;ENSP00000395878:R138T;ENSP00000389888:R173T	ENSP00000280700:R215T	R	-	2	0	NGLY1	25767607	0.992000	0.36948	1.000000	0.80357	0.756000	0.42949	0.575000	0.23729	2.721000	0.93114	0.591000	0.81541	AGA		0.348	NGLY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340832.2			15	82	0	0	0	1	0	15	82					G	25792603	C	G	25792603	3	3	45	1	0	0	0	0	1	0	0	0	10398	913	32	5	1452	5	NGLY1	3	25792603	Missense_Mutation	SNP	C	TCGA-EJ-5495-01A-01D-1576-08		25792603	172229827	17	2403											
XCR1	2829	broad.mit.edu	37	chr3	46063159	46063159	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ggaagtctcccagcacccagCcccagtggtatggggagatc	9	6	13	13	0	1	1	0	0	1	1	3	3	1	2	4	4	2	2	4	4	2	1			TCGA-EJ-5495-01A-01D-1576-08	TCGA-EJ-5495-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a06cd9-5e37-41b7-954f-173a2ab44179	695fd2d7-9426-45e1-81f0-79fbdf6ba0bf	g.chr3:46063159C>G	ENST00000309285.3	-	2	637	c.281G>C	c.(280-282)gGc>gCc	p.G94A	XCR1_ENST00000542109.1_Missense_Mutation_p.G94A	NM_001024644.1	NP_001019815.1	P46094	XCR1_HUMAN	chemokine (C motif) receptor 1	94					chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|inflammatory response (GO:0006954)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|release of sequestered calcium ion into cytosol (GO:0051209)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	chemokine receptor activity (GO:0004950)	p.G94A(1)		NS(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|prostate(2)	14				BRCA - Breast invasive adenocarcinoma(193;0.00113)|KIRC - Kidney renal clear cell carcinoma(197;0.0172)|Kidney(197;0.0203)		CAGCACCCAGCCCCAGTGGTA	0.547																																						ENST00000309285.3																			1	Substitution - Missense(1)	p.G94A(1)	prostate(1)	NS(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|prostate(2)	14						c.(280-282)gGc>gCc		chemokine (C motif) receptor 1							94	102	99					3																	46063159		2203	4300	6503	SO:0001583	missense	2829				chemotaxis|G-protein signaling, coupled to cyclic nucleotide second messenger|inflammatory response	integral to plasma membrane	chemokine receptor activity	g.chr3:46063159C>G		CCDS2736.1	3p21.3-p21.1	2012-11-19	2006-01-13	2002-08-23	ENSG00000173578	ENSG00000173578		"GPCR / Class A : Chemokine receptors : X-C motif"	1625	protein-coding gene	gene with protein product		600552	"chemokine (C motif) XC receptor 1"	GPR5, CCXCR1		7832990, 10400311	Standard	NM_005283		Approved		uc003cpf.3	P46094	OTTHUMG00000133449	ENST00000309285.3:c.281G>C	3.37:g.46063159C>G	ENSP00000310405:p.Gly94Ala					XCR1_ENST00000542109.1_Missense_Mutation_p.G94A	p.G94A	NM_001024644.1	NP_001019815.1	P46094	XCR1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00113)|KIRC - Kidney renal clear cell carcinoma(197;0.0172)|Kidney(197;0.0203)	2	637	-			94						Missense_Mutation	SNP	ENST00000309285.3	37	c.281G>C	CCDS2736.1	.	.	.	.	.	.	.	.	.	.	C	17.02	3.280721	0.59758	.	.	ENSG00000173578	ENST00000309285;ENST00000542109	T;T	0.36699	1.24;1.24	5.35	1.37	0.22104	GPCR, rhodopsin-like superfamily (1);	0.547823	0.19485	N	0.113138	T	0.49474	0.1559	M	0.78637	2.42	0.40423	D	0.979865	P	0.49358	0.923	P	0.57009	0.811	T	0.45190	-0.9278	10	0.45353	T	0.12	.	7.0955	0.25307	0.0:0.6672:0.1231:0.2097	.	94	P46094	XCR1_HUMAN	A	94	ENSP00000310405:G94A;ENSP00000438119:G94A	ENSP00000310405:G94A	G	-	2	0	XCR1	46038163	0.000000	0.05858	0.992000	0.48379	0.929000	0.56500	0.448000	0.21726	0.215000	0.20761	0.650000	0.86243	GGC		0.547	XCR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257322.2			10	60	0	0	0	1	0	10	60					G	46063159	C	G	46063159	3	3	45	1	0	0	0	0	1	0	0	0	17422	739	26	5	724	5	XCR1	3	46063159	Missense_Mutation	SNP	C	TCGA-EJ-5495-01A-01D-1576-08	20270556	46063159	151959271	18	2404											
ITIH3	3699	broad.mit.edu	37	chr3	52836783	52836783	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgggaattacattgagcggcTctgggcctacctcaccattg	8	10	11	12	2	2	1	1	1	1	0	2	2	2	2	3	3	3	1	3	3	3	4			TCGA-EJ-5495-01A-01D-1576-08	TCGA-EJ-5495-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a06cd9-5e37-41b7-954f-173a2ab44179	695fd2d7-9426-45e1-81f0-79fbdf6ba0bf	g.chr3:52836783T>A	ENST00000449956.2	+	13	1676	c.1670T>A	c.(1669-1671)cTc>cAc	p.L557H	ITIH3_ENST00000416872.2_Intron	NM_002217.3	NP_002208.3	Q06033	ITIH3_HUMAN	inter-alpha-trypsin inhibitor heavy chain 3	557					hyaluronan metabolic process (GO:0030212)|negative regulation of endopeptidase activity (GO:0010951)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)	p.L557H(2)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(6)|ovary(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	25				BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496)		ATTGAGCGGCTCTGGGCCTAC	0.607																																						ENST00000449956.2																			2	Substitution - Missense(2)	p.L557H(2)	prostate(2)	breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(6)|ovary(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	25						c.(1669-1671)cTc>cAc		inter-alpha-trypsin inhibitor heavy chain 3							72	81	78					3																	52836783		2104	4249	6353	SO:0001583	missense	3699				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	g.chr3:52836783T>A		CCDS46845.1	3p21.1	2011-10-26	2011-10-26		ENSG00000162267	ENSG00000162267			6168	protein-coding gene	gene with protein product	"pre-alpha (globulin) inhibitor, H3 polypeptide", "inter-alpha-trypsin inhibitor heavy chain H3"	146650	"inter-alpha (globulin) inhibitor, H3 polypeptide", "inter-alpha (globulin) inhibitor H3"			2465147, 10100603	Standard	NM_002217		Approved	H3P	uc003dfv.2	Q06033	OTTHUMG00000158956	ENST00000449956.2:c.1670T>A	3.37:g.52836783T>A	ENSP00000415769:p.Leu557His					ITIH3_ENST00000416872.2_Intron	p.L557H	NM_002217.3	NP_002208.3	Q06033	ITIH3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496)	13	1676	+			557					Q3B7H5|Q53F06|Q6LAM2|Q99085	Missense_Mutation	SNP	ENST00000449956.2	37	c.1670T>A	CCDS46845.1	.	.	.	.	.	.	.	.	.	.	T	26.6	4.751055	0.89753	.	.	ENSG00000162267	ENST00000398670;ENST00000536431;ENST00000273291;ENST00000449956	T	0.64618	-0.11	5.28	5.28	0.74379	.	0.000000	0.85682	D	0.000000	D	0.83147	0.5191	M	0.92833	3.35	0.52099	D	0.999942	D	0.89917	1.0	D	0.79784	0.993	D	0.87367	0.2348	9	.	.	.	-29.5613	14.3408	0.66624	0.0:0.0:0.0:1.0	.	557	Q06033	ITIH3_HUMAN	H	557;545;552;557	ENSP00000415769:L557H	.	L	+	2	0	ITIH3	52811823	0.996000	0.38824	1.000000	0.80357	0.984000	0.73092	7.031000	0.76491	2.217000	0.71921	0.533000	0.62120	CTC		0.607	ITIH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352668.2	NM_002217		10	48	0	0	0	1	0	10	48					A	52836783	T	A	52836783	3	1	45	1	0	0	0	0	1	0	0	0	7905	1551	54	5	1720	5	ITIH3	3	52836783	Missense_Mutation	SNP	T	TCGA-EJ-5495-01A-01D-1576-08	6773624	52836783	145185647	19	2405											
BOD1L	259282	broad.mit.edu	37	chr4	13601501	13601501	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcatgtctgtcaatgctggcGgaaattggcatacattctgc	9	13	10	9	1	4	0	2	0	2	0	4	1	4	1	0	3	3	2	0	3	3	3	rs367990092		TCGA-EJ-5495-01A-01D-1576-08	TCGA-EJ-5495-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a06cd9-5e37-41b7-954f-173a2ab44179	695fd2d7-9426-45e1-81f0-79fbdf6ba0bf	g.chr4:13601501G>A	ENST00000040738.5	-	10	7158	c.7023C>T	c.(7021-7023)tcC>tcT	p.S2341S		NM_148894.2	NP_683692.2	Q8NFC6	BD1L1_HUMAN	biorientation of chromosomes in cell division 1-like 1	2341						nucleus (GO:0005634)	DNA binding (GO:0003677)	p.S2341S(2)									CAATGCTGGCGGAAATTGGCA	0.522																																						ENST00000040738.5																			2	Substitution - coding silent(2)	p.S2341S(2)	large_intestine(1)|prostate(1)								c.(7021-7023)tcC>tcT		biorientation of chromosomes in cell division 1-like 1		G		0,4406		0,0,2203	131	98	109		7023	-10.4	0	4		109	1,8599		0,1,4299	no	coding-synonymous	BOD1L	NM_148894.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		2341/3052	13601501	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	259282						DNA binding	g.chr4:13601501G>A	AF528529	CCDS3411.2	4p16.1	2012-04-10	2012-04-10	2012-04-10	ENSG00000038219	ENSG00000038219			31792	protein-coding gene	gene with protein product			"family with sequence similarity 44, member A", "biorientation of chromosomes in cell division 1-like"	FAM44A, BOD1L			Standard	XM_005248150		Approved	FLJ33215, KIAA1327	uc003gmz.1	Q8NFC6	OTTHUMG00000090659	ENST00000040738.5:c.7023C>T	4.37:g.13601501G>A							p.S2341S	NM_148894.2	NP_683692.2	Q8NFC6	BOD1L_HUMAN			10	7158	-			2341					Q6P0M8|Q96AL1|Q9H6G0|Q9NTD6|Q9P2L9	Silent	SNP	ENST00000040738.5	37	c.7023C>T	CCDS3411.2																																																																																				0.522	BOD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207321.1	NM_148894		10	53	0	0	0	1	0	10	53					A	13601501	G	A	13601501	2	1	45	1	0	0	0	0	0	0	0	1	1483	1103	39	2		2	BOD1L	4	13601501	Silent	SNP	G	TCGA-EJ-5495-01A-01D-1576-08		13601501	177552775	20	2406											
SDAD1	55153	broad.mit.edu	37	chr4	76888458	76888458	+	Frame_Shift_Del	DEL	C	C	-																															tggggctgcagaaacctttgCaaaaagggatagaaattgaa																										TCGA-EJ-5495-01A-01D-1576-08	TCGA-EJ-5495-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a06cd9-5e37-41b7-954f-173a2ab44179	695fd2d7-9426-45e1-81f0-79fbdf6ba0bf	g.chr4:76888458delC	ENST00000356260.5	-	12	1135	c.1017delG	c.(1015-1017)ttgfs	p.L339fs	SDAD1_ENST00000513089.1_Intron|SDAD1_ENST00000395711.4_Frame_Shift_Del_p.L302fs	NM_018115.2	NP_060585.2	Q9NVU7	SDA1_HUMAN	SDA1 domain containing 1	339					actin cytoskeleton organization (GO:0030036)|protein transport (GO:0015031)|ribosomal large subunit biogenesis (GO:0042273)|ribosomal large subunit export from nucleus (GO:0000055)	nucleolus (GO:0005730)				breast(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	19			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			GAAACCTTTGCAAAAAGGGAT	0.418																																						ENST00000356260.5																			0				breast(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	19						c.(1015-1017)ttfs		SDA1 domain containing 1							59	59	59					4																	76888458		2203	4300	6503	SO:0001589	frameshift_variant	55153				protein transport|ribosomal large subunit biogenesis	nucleolus	protein binding	g.chr4:76888458delC	AF132198	CCDS3573.2, CCDS75147.1	4q21.21	2010-11-24			ENSG00000198301	ENSG00000198301			25537	protein-coding gene	gene with protein product						11483580	Standard	NM_001288984		Approved	FLJ10498	uc003hje.4	Q9NVU7	OTTHUMG00000130111	ENST00000356260.5:c.1017delG	4.37:g.76888458delC	ENSP00000348596:p.Leu339fs					SDAD1_ENST00000395711.4_Frame_Shift_Del_p.L302fs|SDAD1_ENST00000513089.1_Intron	p.L339fs	NM_018115.2	NP_060585.2	Q9NVU7	SDA1_HUMAN	Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)		12	1135	-			339					Q32Q11|Q68D52|Q7Z5U4|Q9H831|Q9H9P6	Frame_Shift_Del	DEL	ENST00000356260.5	37	c.1017delG	CCDS3573.2																																																																																				0.418	SDAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252418.3	NM_018115		15	60						15	60	---	---	---	---	-	76888458	C	-	76888458	7	5	45	1	0	1	0	1	0	0	0	0	13950	709	25	0	1090	0	SDAD1	4	76888458	Frame_Shift_Del	DEL	C	TCGA-EJ-5495-01A-01D-1576-08	63286957	76888458	114265818	21	2407											
ADAM29	11086	broad.mit.edu	37	chr4	175897499	175897499	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgtattgcaagtggaagtcgGagaacattacgccccggatg	11	9	13	8	3	0	1	0	0	0	1	1	4	0	3	2	3	3	2	2	3	5	3			TCGA-EJ-5495-01A-01D-1576-08	TCGA-EJ-5495-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a06cd9-5e37-41b7-954f-173a2ab44179	695fd2d7-9426-45e1-81f0-79fbdf6ba0bf	g.chr4:175897499G>T	ENST00000359240.3	+	5	1493	c.823G>T	c.(823-825)Gag>Tag	p.E275*	ADAM29_ENST00000445694.1_Nonsense_Mutation_p.E275*|ADAM29_ENST00000514159.1_Nonsense_Mutation_p.E275*|ADAM29_ENST00000404450.4_Nonsense_Mutation_p.E275*|RP13-577H12.2_ENST00000507525.1_RNA	NM_001278125.1|NM_014269.4	NP_001265054.1|NP_055084.3	Q9UKF5	ADA29_HUMAN	ADAM metallopeptidase domain 29	275	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				spermatogenesis (GO:0007283)	integral component of plasma membrane (GO:0005887)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.E275*(2)		NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)		GTGGAAGTCGGAGAACATTAC	0.413																																					Ovarian(140;1727 1835 21805 25838 41440)	ENST00000359240.3																			2	Substitution - Nonsense(2)	p.E275*(2)	prostate(2)	NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93						c.(823-825)Gag>Tag		ADAM metallopeptidase domain 29							145	139	141					4																	175897499		2203	4300	6503	SO:0001587	stop_gained	11086				proteolysis|spermatogenesis	integral to plasma membrane	metalloendopeptidase activity|zinc ion binding	g.chr4:175897499G>T	AF171929	CCDS3823.1	4q34.1	2012-05-16	2005-08-18		ENSG00000168594	ENSG00000168594		"ADAM metallopeptidase domain containing"	207	protein-coding gene	gene with protein product	"cancer/testis antigen 73"	604778	"a disintegrin and metalloproteinase domain 29"			10644455	Standard	NM_014269		Approved	svph1, CT73	uc031shw.1	Q9UKF5	OTTHUMG00000160764	ENST00000359240.3:c.823G>T	4.37:g.175897499G>T	ENSP00000352177:p.Glu275*					ADAM29_ENST00000404450.4_Nonsense_Mutation_p.E275*|ADAM29_ENST00000445694.1_Nonsense_Mutation_p.E275*|ADAM29_ENST00000514159.1_Nonsense_Mutation_p.E275*	p.E275*	NM_001278125.1|NM_014269.4	NP_001265054.1|NP_055084.3	Q9UKF5	ADA29_HUMAN		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)	5	1493	+		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)	275			Peptidase M12B.		Q4W5F3|Q9UHP1|Q9UKF3|Q9UKF4	Nonsense_Mutation	SNP	ENST00000359240.3	37	c.823G>T	CCDS3823.1	.	.	.	.	.	.	.	.	.	.	G	24.8	4.568556	0.86439	.	.	ENSG00000168594	ENST00000359240;ENST00000445694;ENST00000404450;ENST00000514159	.	.	.	4.13	-7.75	0.01236	.	7.891310	0.00397	U	0.000054	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.4407	0.04493	0.3931:0.1196:0.3682:0.1191	.	.	.	.	X	275	.	.	E	+	1	0	ADAM29	176134074	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-3.028000	0.00639	-1.700000	0.01414	-0.876000	0.02978	GAG		0.413	ADAM29-201	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding				10	373	1	0	7.48243e-07	1	8.62839e-07	10	373					T	175897499	G	T	175897499	4	4	45	1	0	0	0	0	0	1	0	0	247	1175	41	5	825	5	ADAM29	4	175897499	Nonsense_Mutation	SNP	G	TCGA-EJ-5495-01A-01D-1576-08	99009041	175897499	15256777	22	2408											
CDH6	1004	broad.mit.edu	37	chr5	31267702	31267702	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gaaaagggccctggagctctCtggaaacagcaaaaatgagc	15	5	12	9	0	1	1	0	1	1	0	2	4	1	3	1	3	4	2	1	3	5	0			TCGA-EJ-5495-01A-01D-1576-08	TCGA-EJ-5495-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a06cd9-5e37-41b7-954f-173a2ab44179	695fd2d7-9426-45e1-81f0-79fbdf6ba0bf	g.chr5:31267702C>G	ENST00000265071.2	+	2	387	c.122C>G	c.(121-123)tCt>tGt	p.S41C	CDH6_ENST00000514738.1_5'UTR|RP11-152K4.2_ENST00000523584.1_RNA	NM_004932.3	NP_004923.1	P55285	CADH6_HUMAN	cadherin 6, type 2, K-cadherin (fetal kidney)	41					adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.S41C(1)		NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						CTGGAGCTCTCTGGAAACAGC	0.483																																						ENST00000265071.2																			1	Substitution - Missense(1)	p.S41C(1)	prostate(1)	NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						c.(121-123)tCt>tGt		cadherin 6, type 2, K-cadherin (fetal kidney)							104	111	109					5																	31267702		2203	4300	6503	SO:0001583	missense	1004				adherens junction organization|cell junction assembly|homophilic cell adhesion	cytoplasm|integral to membrane|nucleus|plasma membrane	calcium ion binding	g.chr5:31267702C>G	D31784	CCDS3894.1	5p13.3	2010-01-26			ENSG00000113361	ENSG00000113361		"Cadherins / Major cadherins"	1765	protein-coding gene	gene with protein product	"K-Cadherin"	603007				7743525, 10191097	Standard	NM_004932		Approved		uc003jhe.2	P55285	OTTHUMG00000090673	ENST00000265071.2:c.122C>G	5.37:g.31267702C>G	ENSP00000265071:p.Ser41Cys					RP11-152K4.2_ENST00000523584.1_RNA|CDH6_ENST00000514738.1_5'UTR	p.S41C	NM_004932.3	NP_004923.1	P55285	CADH6_HUMAN			2	387	+			41					A8K5H5|Q9BWS0	Missense_Mutation	SNP	ENST00000265071.2	37	c.122C>G	CCDS3894.1	.	.	.	.	.	.	.	.	.	.	C	15.93	2.977088	0.53720	.	.	ENSG00000113361	ENST00000265071	T	0.58652	0.32	5.8	5.8	0.92144	.	0.564568	0.19898	N	0.103567	T	0.69708	0.3141	L	0.61218	1.895	0.36168	D	0.848592	P;P	0.50943	0.892;0.94	P;P	0.57324	0.571;0.818	T	0.75522	-0.3288	10	0.56958	D	0.05	.	14.8454	0.70257	0.1437:0.8563:0.0:0.0	.	41;41	P55285;P55285-2	CADH6_HUMAN;.	C	41	ENSP00000265071:S41C	ENSP00000265071:S41C	S	+	2	0	CDH6	31303459	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.711000	0.37930	2.748000	0.94277	0.655000	0.94253	TCT		0.483	CDH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207355.2	NM_004932		23	164	0	0	0	1	0	23	164					G	31267702	C	G	31267702	3	3	45	1	0	0	0	0	1	0	0	0	3114	913	32	5	124	5	CDH6	5	31267702	Missense_Mutation	SNP	C	TCGA-EJ-5495-01A-01D-1576-08		31267702	149647558	23	2409											
CRHBP	1393	broad.mit.edu	37	chr5	76259198	76259198	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggttgcgagggaataggaGactttgtggagctgctggga	9	9	18	5	1	0	1	0	0	0	1	0	6	0	4	0	5	3	3	0	5	2	3			TCGA-EJ-5495-01A-01D-1576-08	TCGA-EJ-5495-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a06cd9-5e37-41b7-954f-173a2ab44179	695fd2d7-9426-45e1-81f0-79fbdf6ba0bf	g.chr5:76259198G>T	ENST00000274368.4	+	6	1146	c.724G>T	c.(724-726)Gac>Tac	p.D242Y	CRHBP_ENST00000514258.1_3'UTR	NM_001882.3	NP_001873.2	P24387	CRHBP_HUMAN	corticotropin releasing hormone binding protein	242					behavioral response to ethanol (GO:0048149)|cellular response to calcium ion (GO:0071277)|cellular response to cAMP (GO:0071320)|cellular response to cocaine (GO:0071314)|cellular response to drug (GO:0035690)|cellular response to estradiol stimulus (GO:0071392)|cellular response to estrogen stimulus (GO:0071391)|cellular response to gonadotropin-releasing hormone (GO:0097211)|cellular response to potassium ion (GO:0035865)|cellular response to stress (GO:0033554)|cellular response to tumor necrosis factor (GO:0071356)|female pregnancy (GO:0007565)|hormone metabolic process (GO:0042445)|hormone-mediated signaling pathway (GO:0009755)|inflammatory response (GO:0006954)|learning or memory (GO:0007611)|maternal aggressive behavior (GO:0002125)|negative regulation of corticotropin secretion (GO:0051460)|negative regulation of corticotropin-releasing hormone receptor activity (GO:1900011)|regulated secretory pathway (GO:0045055)|regulation of corticotropin secretion (GO:0051459)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|signal transduction (GO:0007165)|synaptic transmission, dopaminergic (GO:0001963)	axon terminus (GO:0043679)|dendrite (GO:0030425)|dense core granule (GO:0031045)|extracellular space (GO:0005615)|intracellular (GO:0005622)|microtubule (GO:0005874)|multivesicular body (GO:0005771)|nucleus (GO:0005634)|perikaryon (GO:0043204)|secondary lysosome (GO:0005767)|secretory granule (GO:0030141)|varicosity (GO:0043196)	corticotropin-releasing hormone binding (GO:0051424)|peptide binding (GO:0042277)	p.D242N(1)|p.D242Y(1)		kidney(3)|large_intestine(4)|lung(6)|prostate(1)|skin(2)	16		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)		OV - Ovarian serous cystadenocarcinoma(54;2.17e-51)|Epithelial(54;8.79e-46)|all cancers(79;2.49e-41)		GGGAATAGGAGACTTTGTGGA	0.473																																						ENST00000274368.4																			2	Substitution - Missense(2)	p.D242N(1)|p.D242Y(1)	large_intestine(1)|prostate(1)	kidney(3)|large_intestine(4)|lung(6)|prostate(1)|skin(2)	16						c.(724-726)Gac>Tac		corticotropin releasing hormone binding protein							169	171	170					5																	76259198		2203	4300	6503	SO:0001583	missense	1393				female pregnancy|learning or memory|signal transduction	soluble fraction		g.chr5:76259198G>T	X58022	CCDS4034.1	5q	2008-07-18	2001-11-28		ENSG00000145708	ENSG00000145708			2356	protein-coding gene	gene with protein product		122559	"corticotropin releasing hormone-binding protein"			8198617	Standard	NM_001882		Approved	CRF-BP, CRFBP	uc003ker.3	P24387	OTTHUMG00000102133	ENST00000274368.4:c.724G>T	5.37:g.76259198G>T	ENSP00000274368:p.Asp242Tyr					CRHBP_ENST00000514258.1_3'UTR	p.D242Y	NM_001882.3	NP_001873.2	P24387	CRHBP_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;2.17e-51)|Epithelial(54;8.79e-46)|all cancers(79;2.49e-41)	6	1146	+		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)	242					Q53F32|Q6FHT5	Missense_Mutation	SNP	ENST00000274368.4	37	c.724G>T	CCDS4034.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.338881	0.81911	.	.	ENSG00000145708	ENST00000274368	.	.	.	5.67	5.67	0.87782	.	0.094660	0.64402	D	0.000001	D	0.83769	0.5326	M	0.81341	2.54	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.85264	0.1052	9	0.87932	D	0	-11.2633	19.7713	0.96366	0.0:0.0:1.0:0.0	.	242	P24387	CRHBP_HUMAN	Y	242	.	ENSP00000274368:D242Y	D	+	1	0	CRHBP	76294954	1.000000	0.71417	1.000000	0.80357	0.687000	0.40016	8.883000	0.92426	2.662000	0.90505	0.643000	0.83706	GAC		0.473	CRHBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219972.2	NM_001882		64	307	1	0	1.48873e-21	1	1.93517e-21	64	307					T	76259198	G	T	76259198	3	4	45	1	0	0	0	0	1	0	0	0	3870	942	33	5	746	5	CRHBP	5	76259198	Missense_Mutation	SNP	G	TCGA-EJ-5495-01A-01D-1576-08	44991496	76259198	104656062	24	2410											
CMYA5	202333	broad.mit.edu	37	chr5	79041206	79041206	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtccactttctgcagagcatGgacactgccaaagacaccct	11	8	8	14	0	1	2	0	0	1	2	2	3	2	3	3	1	3	2	3	1	1	1			TCGA-EJ-5495-01A-01D-1576-08	TCGA-EJ-5495-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a06cd9-5e37-41b7-954f-173a2ab44179	695fd2d7-9426-45e1-81f0-79fbdf6ba0bf	g.chr5:79041206G>A	ENST00000446378.2	+	4	10927	c.10896G>A	c.(10894-10896)atG>atA	p.M3632I		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	3632	Amphipathic helix H2.|B-box coiled-coil; BBC.				negative regulation of calcineurin-NFAT signaling cascade (GO:0070885)|negative regulation of protein phosphatase type 2B activity (GO:0032513)|regulation of skeletal muscle adaptation (GO:0014733)	costamere (GO:0043034)		p.M3632I(2)		NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		TGCAGAGCATGGACACTGCCA	0.488																																						ENST00000446378.2																			2	Substitution - Missense(2)	p.M3632I(2)	prostate(2)	NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128						c.(10894-10896)atG>atA		cardiomyopathy associated 5							133	140	138					5																	79041206		2031	4196	6227	SO:0001583	missense	202333					perinuclear region of cytoplasm		g.chr5:79041206G>A	AW755254, AL831986	CCDS47238.1	5q14.1	2013-02-11			ENSG00000164309	ENSG00000164309		"Tripartite motif containing / Tripartite motif containing", "A-kinase anchor proteins", "Fibronectin type III domain containing"	14305	protein-coding gene	gene with protein product	"genethonin-3", "tripartite motif-containing 76"	612193	"chromosome 5 open reading frame 10"	C5orf10		14688250	Standard	NM_153610		Approved	myospryn, SPRYD2, DKFZp451G223, TRIM76	uc003kgc.3	Q8N3K9	OTTHUMG00000162548	ENST00000446378.2:c.10896G>A	5.37:g.79041206G>A	ENSP00000394770:p.Met3632Ile						p.M3632I	NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)	4	10927	+		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)	3632			Amphipathic helix H2.|B-box coiled-coil; BBC.		A0PJB7|Q05CT4|Q2NKX1|Q2T9G9|Q69YQ8|Q69YQ9|Q6P517|Q6P5U3|Q7Z4I1|Q86T34|Q86T49|Q8N3S4|Q8N3S7|Q8NAG8|Q9UK88	Missense_Mutation	SNP	ENST00000446378.2	37	c.10896G>A	CCDS47238.1	.	.	.	.	.	.	.	.	.	.	G	13.87	2.365676	0.41902	.	.	ENSG00000164309	ENST00000446378	T	0.35236	1.32	5.58	5.58	0.84498	.	0.000000	0.64402	D	0.000007	T	0.20941	0.0504	N	0.08118	0	0.33808	D	0.627542	P	0.39480	0.675	B	0.37047	0.24	T	0.33471	-0.9867	10	0.59425	D	0.04	.	12.9843	0.58583	0.0:0.0:0.7345:0.2655	.	3632	Q8N3K9	CMYA5_HUMAN	I	3632	ENSP00000394770:M3632I	ENSP00000394770:M3632I	M	+	3	0	CMYA5	79076962	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.512000	0.53407	2.774000	0.95407	0.655000	0.94253	ATG		0.488	CMYA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369497.1	NM_153610		19	104	0	0	0	1	0	19	104					A	79041206	G	A	79041206	3	1	45	1	0	0	0	0	1	0	0	0	3590	1348	47	3	10910	3	CMYA5	5	79041206	Missense_Mutation	SNP	G	TCGA-EJ-5495-01A-01D-1576-08	2782008	79041206	101874054	25	2411											
LOX	4015	broad.mit.edu	37	chr5	121413182	121413182	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gttgtaagggtcgtcgcccaCcatgccgtccacgcggctgg	5	8	14	14	5	0	0	0	0	0	0	3	0	1	0	4	3	1	3	4	3	1	2			TCGA-EJ-5495-01A-01D-1576-08	TCGA-EJ-5495-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a06cd9-5e37-41b7-954f-173a2ab44179	695fd2d7-9426-45e1-81f0-79fbdf6ba0bf	g.chr5:121413182C>T	ENST00000231004.4	-	1	798	c.499G>A	c.(499-501)Gtg>Atg	p.V167M	LOX_ENST00000513319.1_5'Flank	NM_001178102.1|NM_002317.5	NP_001171573.1|NP_002308.2	P28300	LYOX_HUMAN	lysyl oxidase	167					blood vessel development (GO:0001568)|cellular protein modification process (GO:0006464)|collagen fibril organization (GO:0030199)|elastic fiber assembly (GO:0048251)|extracellular matrix organization (GO:0030198)|lung development (GO:0030324)|response to drug (GO:0042493)|response to steroid hormone (GO:0048545)|wound healing (GO:0042060)	collagen trimer (GO:0005581)|extracellular region (GO:0005576)|nucleus (GO:0005634)|proteinaceous extracellular matrix (GO:0005578)	copper ion binding (GO:0005507)|protein-lysine 6-oxidase activity (GO:0004720)	p.V167M(1)		endometrium(1)|lung(6)|prostate(1)	8		all_cancers(142;0.0124)|Prostate(80;0.0322)|Ovarian(225;0.0814)|Breast(839;0.143)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	Epithelial(69;2.14e-11)|OV - Ovarian serous cystadenocarcinoma(64;7.87e-10)|all cancers(49;2.49e-09)|COAD - Colon adenocarcinoma(49;0.02)		TCGTCGCCCACCATGCCGTCC	0.622																																						ENST00000231004.4																			1	Substitution - Missense(1)	p.V167M(1)	prostate(1)	endometrium(1)|lung(6)|prostate(1)	8						c.(499-501)Gtg>Atg		lysyl oxidase							49	60	56					5																	121413182		2203	4300	6503	SO:0001583	missense	4015				protein modification process	extracellular space	copper ion binding|protein-lysine 6-oxidase activity	g.chr5:121413182C>T		CCDS4129.1	5q23.3-q31.2	2008-02-05			ENSG00000113083	ENSG00000113083	1.4.3.13		6664	protein-coding gene	gene with protein product		153455				1685472	Standard	NM_002317		Approved		uc003ksu.3	P28300	OTTHUMG00000128914	ENST00000231004.4:c.499G>A	5.37:g.121413182C>T	ENSP00000231004:p.Val167Met						p.V167M	NM_001178102.1|NM_002317.5	NP_001171573.1|NP_002308.2	P28300	LYOX_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.206)	Epithelial(69;2.14e-11)|OV - Ovarian serous cystadenocarcinoma(64;7.87e-10)|all cancers(49;2.49e-09)|COAD - Colon adenocarcinoma(49;0.02)	1	798	-		all_cancers(142;0.0124)|Prostate(80;0.0322)|Ovarian(225;0.0814)|Breast(839;0.143)	167					B2R5Q3|Q5FWF0	Missense_Mutation	SNP	ENST00000231004.4	37	c.499G>A	CCDS4129.1	.	.	.	.	.	.	.	.	.	.	C	15.95	2.984246	0.53827	.	.	ENSG00000113083	ENST00000231004;ENST00000543620	T	0.24723	1.84	4.41	3.53	0.40419	.	0.231431	0.35407	N	0.003238	T	0.22322	0.0538	L	0.58101	1.795	0.36817	D	0.88621	B	0.26363	0.147	B	0.21151	0.033	T	0.10730	-1.0617	10	0.35671	T	0.21	.	7.6658	0.28430	0.0:0.6106:0.3:0.0894	.	167	P28300	LYOX_HUMAN	M	167;127	ENSP00000231004:V167M	ENSP00000231004:V167M	V	-	1	0	LOX	121441081	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	2.631000	0.46502	0.830000	0.34757	0.305000	0.20034	GTG		0.622	LOX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250887.2			26	133	0	0	0	1	0	26	133					T	121413182	C	T	121413182	3	4	45	1	0	0	0	0	1	0	0	0	8898	507	18	3	782	3	LOX	5	121413182	Missense_Mutation	SNP	C	TCGA-EJ-5495-01A-01D-1576-08	42371976	121413182	59502078	26	2412											
TNXB	7148	broad.mit.edu	37	chr6	32023935	32023935	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ctgagttccgtggggctgggGgtctcttcctctgcagctga	3	12	15	11	1	2	2	0	2	2	0	5	2	4	2	2	4	2	4	2	4	0	2			TCGA-EJ-5495-01A-01D-1576-08	TCGA-EJ-5495-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a06cd9-5e37-41b7-954f-173a2ab44179	695fd2d7-9426-45e1-81f0-79fbdf6ba0bf	g.chr6:32023935G>T	ENST00000375244.3	-	24	8361	c.8160C>A	c.(8158-8160)acC>acA	p.T2720T	TNXB_ENST00000375247.2_Silent_p.T2720T			P22105	TENX_HUMAN	tenascin XB	2778	Fibronectin type-III 19. {ECO:0000255|PROSITE-ProRule:PRU00316}.				actin cytoskeleton organization (GO:0030036)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|collagen fibril organization (GO:0030199)|collagen metabolic process (GO:0032963)|elastic fiber assembly (GO:0048251)|extracellular fibril organization (GO:0043206)|fatty acid metabolic process (GO:0006631)|regulation of JUN kinase activity (GO:0043506)|single organismal cell-cell adhesion (GO:0016337)|triglyceride metabolic process (GO:0006641)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)	p.T2807T(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						TGGGGCTGGGGGTCTCTTCCT	0.627																																						ENST00000375244.3																			1	Substitution - coding silent(1)	p.T2807T(1)	prostate(1)	endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						c.(8158-8160)acC>acA		tenascin XB							33	39	37					6																	32023935		1227	2524	3751	SO:0001819	synonymous_variant	7148				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding	g.chr6:32023935G>T	X71923	CCDS4736.1	6p21.3	2013-02-11			ENSG00000168477	ENSG00000168477		"Fibrinogen C domain containing", "Fibronectin type III domain containing"	11976	protein-coding gene	gene with protein product		600985		TNXB1, TNXB2		8530023	Standard	NM_019105		Approved	TNXBS, XBS, XB	uc021yvf.2	P22105	OTTHUMG00000031088	ENST00000375244.3:c.8160C>A	6.37:g.32023935G>T						TNXB_ENST00000375247.2_Silent_p.T2720T	p.T2720T			P22105	TENX_HUMAN			24	8361	-			2778			Fibronectin type-III 19.		P78530|P78531|Q08424|Q08AM0|Q08AM1|Q59GU7|Q5SQD3|Q5ST74|Q7L8Q4|Q8N4R1|Q9NPK9|Q9UC10|Q9UC11|Q9UC12|Q9UC13|Q9UMG7	Silent	SNP	ENST00000375244.3	37	c.8160C>A																																																																																					0.627	TNXB-001	PUTATIVE	not_organism_supported|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000268927.2	NM_019105		9	66	1	0	0.000274275	1	0.000300062	9	66					T	32023935	G	T	32023935	2	4	45	1	0	0	0	0	0	0	0	1	16343	1219	43	5		5	TNXB	6	32023935	Silent	SNP	G	TCGA-EJ-5495-01A-01D-1576-08		32023935	139091132	27	2413											
MDGA1	266727	broad.mit.edu	37	chr6	37622688	37622688	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tggggccgcaggttcttcagCttcaggaccttggtctcccc	4	11	12	14	1	4	0	2	0	2	0	5	1	4	1	4	5	1	3	4	5	0	4			TCGA-EJ-5495-01A-01D-1576-08	TCGA-EJ-5495-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a06cd9-5e37-41b7-954f-173a2ab44179	695fd2d7-9426-45e1-81f0-79fbdf6ba0bf	g.chr6:37622688C>G	ENST00000434837.3	-	5	1778	c.600G>C	c.(598-600)aaG>aaC	p.K200N	MDGA1_ENST00000505425.1_Missense_Mutation_p.K200N|MDGA1_ENST00000297153.7_Missense_Mutation_p.K200N	NM_153487.3	NP_705691.1	Q8NFP4	MDGA1_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 1	200	Ig-like 2.				brain development (GO:0007420)|cerebral cortex radially oriented cell migration (GO:0021799)|neuron migration (GO:0001764)|spinal cord association neuron differentiation (GO:0021527)	anchored component of plasma membrane (GO:0046658)|extracellular space (GO:0005615)		p.K200N(2)		central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	38						GGTTCTTCAGCTTCAGGACCT	0.612																																						ENST00000434837.2																			2	Substitution - Missense(2)	p.K200N(2)	prostate(2)	central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	38						c.(598-600)aaG>aaC		MAM domain containing glycosylphosphatidylinositol anchor 1							77	87	83					6																	37622688		2115	4215	6330	SO:0001583	missense	266727				brain development|neuron migration|spinal cord association neuron differentiation	anchored to plasma membrane		g.chr6:37622688C>G	AF478693	CCDS47417.1	6p21	2013-01-29			ENSG00000112139	ENSG00000112139		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	19267	protein-coding gene	gene with protein product		609626				15922729, 15019943	Standard	NM_153487		Approved	GPIM, MAMDC3	uc003onu.1	Q8NFP4	OTTHUMG00000014626	ENST00000434837.3:c.600G>C	6.37:g.37622688C>G	ENSP00000402584:p.Lys200Asn					MDGA1_ENST00000505425.1_Missense_Mutation_p.K200N|MDGA1_ENST00000297153.7_Missense_Mutation_p.K200N	p.K200N	NM_153487.3	NP_705691.1	Q8NFP4	MDGA1_HUMAN			5	1778	-			200			Ig-like 2.		A6NHG0|Q8NBE3	Missense_Mutation	SNP	ENST00000434837.3	37	c.600G>C	CCDS47417.1	.	.	.	.	.	.	.	.	.	.	C	23.9	4.470225	0.84533	.	.	ENSG00000112139	ENST00000434837;ENST00000297153;ENST00000505425	T;T;T	0.12147	2.71;2.71;2.71	5.71	3.95	0.45737	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.51477	D	0.000087	T	0.11281	0.0275	N	0.26042	0.785	0.50467	D	0.999873	D	0.76494	0.999	D	0.72338	0.977	T	0.10847	-1.0612	10	0.25106	T	0.35	.	11.3662	0.49673	0.0:0.8543:0.0:0.1457	.	200	Q8NFP4	MDGA1_HUMAN	N	200	ENSP00000402584:K200N;ENSP00000297153:K200N;ENSP00000422042:K200N	ENSP00000297153:K200N	K	-	3	2	MDGA1	37730666	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.716000	0.47219	0.783000	0.33636	0.650000	0.86243	AAG		0.612	MDGA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040419.3			15	82	0	0	0	1	0	15	82					G	37622688	C	G	37622688	3	3	45	1	0	0	0	0	1	0	0	0	9406	796	28	5	2319	5	MDGA1	6	37622688	Missense_Mutation	SNP	C	TCGA-EJ-5495-01A-01D-1576-08	5598753	37622688	133492379	28	2414											
FAM83B	222584	broad.mit.edu	37	chr6	54735287	54735287	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acagcacatggtactgatgaTtcctgtgatgataccttatc	11	13	8	9	0	0	4	0	4	0	0	2	4	1	4	2	1	3	2	2	1	3	4			TCGA-EJ-5495-01A-01D-1576-08	TCGA-EJ-5495-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a06cd9-5e37-41b7-954f-173a2ab44179	695fd2d7-9426-45e1-81f0-79fbdf6ba0bf	g.chr6:54735287T>C	ENST00000306858.7	+	2	359	c.243T>C	c.(241-243)gaT>gaC	p.D81D		NM_001010872.1	NP_001010872.1	Q5T0W9	FA83B_HUMAN	family with sequence similarity 83, member B	81								p.D81D(1)		autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71	Lung NSC(77;0.0178)|Renal(3;0.122)					GTACTGATGATTCCTGTGATG	0.433																																						ENST00000306858.7																			1	Substitution - coding silent(1)	p.D81D(1)	prostate(1)	autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71						c.(241-243)gaT>gaC		family with sequence similarity 83, member B							131	132	132					6																	54735287		2203	4300	6503	SO:0001819	synonymous_variant	222584							g.chr6:54735287T>C	AK055204	CCDS34479.1	6p12.1	2014-03-13	2006-03-23	2006-03-23	ENSG00000168143	ENSG00000168143			21357	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 143"	C6orf143		22886302	Standard	NM_001010872		Approved	FLJ30642	uc003pck.4	Q5T0W9	OTTHUMG00000014899	ENST00000306858.7:c.243T>C	6.37:g.54735287T>C							p.D81D	NM_001010872.1	NP_001010872.1	Q5T0W9	FA83B_HUMAN			2	359	+	Lung NSC(77;0.0178)|Renal(3;0.122)		81					Q2M1P3|Q96DQ2	Silent	SNP	ENST00000306858.7	37	c.243T>C	CCDS34479.1																																																																																				0.433	FAM83B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040994.1	XM_294139		53	329	0	0	0	1	0	53	329					C	54735287	T	C	54735287	2	2	45	1	0	0	0	0	0	0	0	1	5634	1490	52	4		4	FAM83B	6	54735287	Silent	SNP	T	TCGA-EJ-5495-01A-01D-1576-08	17112599	54735287	116379780	29	2415											
FUT9	10690	broad.mit.edu	37	chr6	96651187	96651187	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tctgtgctgaaaatgaaaaaCttcttttccaccaaaactga	15	12	5	9	0	2	3	0	3	2	0	3	3	3	3	2	0	3	1	2	0	6	3	rs534420311		TCGA-EJ-5495-01A-01D-1576-08	TCGA-EJ-5495-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a06cd9-5e37-41b7-954f-173a2ab44179	695fd2d7-9426-45e1-81f0-79fbdf6ba0bf	g.chr6:96651187C>T	ENST00000302103.5	+	3	482	c.156C>T	c.(154-156)aaC>aaT	p.N52N		NM_006581.3	NP_006572.2	Q9Y231	FUT9_HUMAN	fucosyltransferase 9 (alpha (1,3) fucosyltransferase)	52					carbohydrate metabolic process (GO:0005975)|fucosylation (GO:0036065)|L-fucose catabolic process (GO:0042355)|nervous system development (GO:0007399)|protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	alpha-(1->3)-fucosyltransferase activity (GO:0046920)|fucosyltransferase activity (GO:0008417)	p.N52N(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	34		all_cancers(76;4.77e-07)|Acute lymphoblastic leukemia(125;4.01e-09)|all_hematologic(75;1.25e-06)|all_epithelial(107;0.00279)|Colorectal(196;0.0356)		BRCA - Breast invasive adenocarcinoma(108;0.08)		AAATGAAAAACTTCTTTTCCA	0.423													C|||	1	0.000199681	0	0	5008	,	,		18806	0.001		0	False		,,,				2504	0				Melanoma(98;1369 1476 6592 22940 26587)	ENST00000302103.5																			1	Substitution - coding silent(1)	p.N52N(1)	prostate(1)	NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	34						c.(154-156)aaC>aaT		fucosyltransferase 9 (alpha (1,3) fucosyltransferase)							102	95	97					6																	96651187		2203	4300	6503	SO:0001819	synonymous_variant	10690				L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to membrane	alpha(1,3)-fucosyltransferase activity	g.chr6:96651187C>T	AB023021	CCDS5033.1	6q16	2013-02-26			ENSG00000172461	ENSG00000172461		"Fucosyltransferases"	4020	protein-coding gene	gene with protein product		606865				10386598, 10575236	Standard	NM_006581		Approved	Fuc-TIX	uc003pop.4	Q9Y231	OTTHUMG00000015236	ENST00000302103.5:c.156C>T	6.37:g.96651187C>T							p.N52N	NM_006581.3	NP_006572.2	Q9Y231	FUT9_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.08)	3	482	+		all_cancers(76;4.77e-07)|Acute lymphoblastic leukemia(125;4.01e-09)|all_hematologic(75;1.25e-06)|all_epithelial(107;0.00279)|Colorectal(196;0.0356)	52					Q5T0W4	Silent	SNP	ENST00000302103.5	37	c.156C>T	CCDS5033.1																																																																																				0.423	FUT9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041554.2	NM_006581		33	163	0	0	0	1	0	33	163					T	96651187	C	T	96651187	2	4	45	1	0	0	0	0	0	0	0	1	6111	564	20	3		3	FUT9	6	96651187	Silent	SNP	C	TCGA-EJ-5495-01A-01D-1576-08	41915900	96651187	74463880	30	2416											
TIAM2	26230	broad.mit.edu	37	chr6	155451342	155451342	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acatgggcacgcatgccagcCtgagcaaccgtgtctctttt	8	10	10	13	2	1	1	0	1	1	0	2	1	1	1	3	1	4	3	3	1	1	2			TCGA-EJ-5495-01A-01D-1576-08	TCGA-EJ-5495-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a06cd9-5e37-41b7-954f-173a2ab44179	695fd2d7-9426-45e1-81f0-79fbdf6ba0bf	g.chr6:155451342C>T	ENST00000461783.3	+	6	2258	c.985C>T	c.(985-987)Ctg>Ttg	p.L329L	TIAM2_ENST00000367174.2_5'UTR|TIAM2_ENST00000360366.4_Silent_p.L329L|TIAM2_ENST00000318981.5_Silent_p.L329L|TIAM2_ENST00000456144.1_Silent_p.L329L|TIAM2_ENST00000529824.2_Silent_p.L329L			Q8IVF5	TIAM2_HUMAN	T-cell lymphoma invasion and metastasis 2	329					apoptotic signaling pathway (GO:0097190)|cellular lipid metabolic process (GO:0044255)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	cell projection (GO:0042995)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)|receptor signaling protein activity (GO:0005057)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.L329L(1)		breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)		GCATGCCAGCCTGAGCAACCG	0.577																																						ENST00000461783.3																			1	Substitution - coding silent(1)	p.L329L(1)	prostate(1)	breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65						c.(985-987)Ctg>Ttg		T-cell lymphoma invasion and metastasis 2							82	77	78					6																	155451342		2203	4300	6503	SO:0001819	synonymous_variant	26230				apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|filopodium|growth cone|lamellipodium	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity	g.chr6:155451342C>T		CCDS34558.1, CCDS34559.1	6q25	2013-01-10			ENSG00000146426	ENSG00000146426		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	11806	protein-coding gene	gene with protein product		604709				10512681	Standard	NM_012454		Approved	STEF	uc003qqe.3	Q8IVF5	OTTHUMG00000015880	ENST00000461783.3:c.985C>T	6.37:g.155451342C>T						TIAM2_ENST00000529824.2_Silent_p.L329L|TIAM2_ENST00000318981.5_Silent_p.L329L|TIAM2_ENST00000367174.2_5'UTR|TIAM2_ENST00000360366.4_Silent_p.L329L|TIAM2_ENST00000456144.1_Silent_p.L329L	p.L329L			Q8IVF5	TIAM2_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)	6	2258	+		Ovarian(120;0.196)	329					B2RP56|C9JZV2|Q6NXN9|Q6ZUP9|Q9UFG6|Q9UKV9|Q9UKW0	Silent	SNP	ENST00000461783.3	37	c.985C>T	CCDS34558.1																																																																																				0.577	TIAM2-005	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000387980.2	NM_012454		15	88	0	0	0	1	0	15	88					T	155451342	C	T	155451342	2	4	45	1	0	0	0	0	0	0	0	1	15888	680	24	3		3	TIAM2	6	155451342	Silent	SNP	C	TCGA-EJ-5495-01A-01D-1576-08	58800155	155451342	15663725	31	2417											
SLC22A3	6581	broad.mit.edu	37	chr6	160864677	160864677	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aacagaaatttcggagtttcGctctgttcaggtctgtgtga	9	14	11	7	2	3	2	1	1	2	1	5	3	3	3	0	2	1	3	0	2	2	3			TCGA-EJ-5495-01A-01D-1576-08	TCGA-EJ-5495-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a06cd9-5e37-41b7-954f-173a2ab44179	695fd2d7-9426-45e1-81f0-79fbdf6ba0bf	g.chr6:160864677G>A	ENST00000275300.2	+	9	1565	c.1413G>A	c.(1411-1413)tcG>tcA	p.S471S	SLC22A3_ENST00000392145.1_Silent_p.S472S	NM_021977.3	NP_068812.1	O75751	S22A3_HUMAN	solute carrier family 22 (organic cation transporter), member 3	471					dopamine transport (GO:0015872)|drug transmembrane transport (GO:0006855)|histamine uptake (GO:0051615)|organic cation transport (GO:0015695)|quaternary ammonium group transport (GO:0015697)|regulation of appetite (GO:0032098)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	dopamine transmembrane transporter activity (GO:0005329)|organic cation transmembrane transporter activity (GO:0015101)|quaternary ammonium group transmembrane transporter activity (GO:0015651)|toxin transporter activity (GO:0019534)	p.S471S(1)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27		Breast(66;0.00028)|Ovarian(120;0.0308)|Prostate(117;0.218)		OV - Ovarian serous cystadenocarcinoma(65;9.47e-17)|BRCA - Breast invasive adenocarcinoma(81;9.75e-06)	Adefovir Dipivoxil(DB00718)|Amphetamine(DB00182)|Choline(DB00122)|Cimetidine(DB00501)|Clonidine(DB00575)|Colchicine(DB01394)|Desipramine(DB01151)|Dopamine(DB00988)|Estradiol(DB00783)|Guanidine(DB00536)|Histamine Phosphate(DB00667)|Imipramine(DB00458)|Irinotecan(DB00762)|Lamivudine(DB00709)|Melphalan(DB01042)|Metformin(DB00331)|Methamphetamine(DB01577)|Nicotine(DB00184)|Norepinephrine(DB00368)|Oxaliplatin(DB00526)|Phenoxybenzamine(DB00925)|Prazosin(DB00457)|Procainamide(DB01035)|Progesterone(DB00396)|Testosterone(DB00624)|Vincristine(DB00541)	TCGGAGTTTCGCTCTGTTCAG	0.378																																						ENST00000392145.1																			1	Substitution - coding silent(1)	p.S471S(1)	prostate(1)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27						c.(1414-1416)tcG>tcA		solute carrier family 22 (organic cation transporter), member 3							114	104	108					6																	160864677		2203	4300	6503	SO:0001819	synonymous_variant	6581					integral to plasma membrane|membrane fraction	protein binding|quaternary ammonium group transmembrane transporter activity	g.chr6:160864677G>A	AF078749	CCDS5277.1	6q25.3	2013-07-18	2013-07-18		ENSG00000146477	ENSG00000146477		"Solute carriers"	10967	protein-coding gene	gene with protein product		604842	"solute carrier family 22 (extraneuronal monoamine transporter), member 3"			9632645, 9933568	Standard	NM_021977		Approved	OCT3, EMT	uc003qti.4	O75751	OTTHUMG00000015953	ENST00000275300.2:c.1413G>A	6.37:g.160864677G>A						SLC22A3_ENST00000275300.2_Silent_p.S471S	p.S472S			O75751	S22A3_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;9.47e-17)|BRCA - Breast invasive adenocarcinoma(81;9.75e-06)	9	1443	+		Breast(66;0.00028)|Ovarian(120;0.0308)|Prostate(117;0.218)	471					Q5SYN6|Q9UP02	Silent	SNP	ENST00000275300.2	37	c.1416G>A	CCDS5277.1																																																																																				0.378	SLC22A3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000042953.1	NM_021977		5	139	0	0	0	1	0	5	139					A	160864677	G	A	160864677	2	1	45	1	0	0	0	0	0	0	0	1	14455	1074	38	1		1	SLC22A3	6	160864677	Silent	SNP	G	TCGA-EJ-5495-01A-01D-1576-08	5413335	160864677	10250390	32	2418											
UNC93A	54346	broad.mit.edu	37	chr6	167709633	167709633	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	acatgcagagaaggcgggaaAgcgtggcaaagacatggtga	15	4	16	6	2	0	3	0	1	0	2	0	5	0	4	0	4	2	2	0	4	3	0			TCGA-EJ-5495-01A-01D-1576-08	TCGA-EJ-5495-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a06cd9-5e37-41b7-954f-173a2ab44179	695fd2d7-9426-45e1-81f0-79fbdf6ba0bf	g.chr6:167709633A>T	ENST00000230256.3	+	3	558	c.383A>T	c.(382-384)aAg>aTg	p.K128M	UNC93A_ENST00000366829.2_Missense_Mutation_p.K128M|UNC93A_ENST00000366830.2_3'UTR	NM_018974.3	NP_061847.2	Q86WB7	UN93A_HUMAN	unc-93 homolog A (C. elegans)	128			K -> Q (in dbSNP:rs35313366).			integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.K128M(1)		breast(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	40		Breast(66;7.62e-05)|Ovarian(120;0.105)		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)		AAGGCGGGAAAGCGTGGCAAA	0.552																																						ENST00000230256.3																			1	Substitution - Missense(1)	p.K128M(1)	prostate(1)	breast(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	40						c.(382-384)aAg>aTg		unc-93 homolog A (C. elegans)							236	214	221					6																	167709633		2203	4300	6503	SO:0001583	missense	54346					integral to membrane|plasma membrane		g.chr6:167709633A>T	AJ508812	CCDS5300.1, CCDS47515.1	6q27	2014-05-16	2001-11-28		ENSG00000112494	ENSG00000112494			12570	protein-coding gene	gene with protein product		607995	"unc93 (C.elegans) homolog A"			12381271	Standard	NM_001143947		Approved	dJ366N23.2, dJ366N23.1	uc003qvq.3	Q86WB7	OTTHUMG00000016021	ENST00000230256.3:c.383A>T	6.37:g.167709633A>T	ENSP00000230256:p.Lys128Met					UNC93A_ENST00000366829.2_Missense_Mutation_p.K128M|UNC93A_ENST00000366830.2_3'UTR	p.K128M	NM_018974.3	NP_061847.2	Q86WB7	UN93A_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)	3	558	+		Breast(66;7.62e-05)|Ovarian(120;0.105)	128		K -> Q (in dbSNP:rs35313366).			B3KRP5|Q4QQJ4|Q5JZD6	Missense_Mutation	SNP	ENST00000230256.3	37	c.383A>T	CCDS5300.1	.	.	.	.	.	.	.	.	.	.	A	11.97	1.796759	0.31777	.	.	ENSG00000112494	ENST00000503433;ENST00000230256;ENST00000366829	T;T;T	0.33438	1.41;3.37;3.45	5.53	-1.53	0.08611	Major facilitator superfamily domain, general substrate transporter (1);	0.266329	0.36665	N	0.002461	T	0.28962	0.0719	M	0.83953	2.67	0.21020	N	0.999802	P;D	0.67145	0.804;0.996	B;D	0.70016	0.309;0.967	T	0.12192	-1.0557	10	0.45353	T	0.12	-1.2429	1.005	0.01485	0.4822:0.1291:0.1402:0.2484	.	128;128	Q4QQJ4;Q86WB7	.;UN93A_HUMAN	M	128	ENSP00000421484:K128M;ENSP00000230256:K128M;ENSP00000355794:K128M	ENSP00000230256:K128M	K	+	2	0	UNC93A	167629623	0.997000	0.39634	0.000000	0.03702	0.007000	0.05969	5.113000	0.64640	-0.511000	0.06514	0.533000	0.62120	AAG		0.552	UNC93A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043125.2	NM_018974		30	219	0	0	0	1	0	30	219					T	167709633	A	T	167709633	3	4	45	1	0	0	0	0	1	0	0	0	16993	72	3	5	393	5	UNC93A	6	167709633	Missense_Mutation	SNP	A	TCGA-EJ-5495-01A-01D-1576-08	6844956	167709633	3405434	33	2419											
SDK1	221935	broad.mit.edu	37	chr7	3681627	3681627	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatacggaccagaggaaaacAgtttctcaaggacgtgcagc	14	6	12	9	2	1	1	1	0	1	1	2	5	1	4	1	3	4	2	1	3	4	2			TCGA-EJ-5495-01A-01D-1576-08	TCGA-EJ-5495-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a06cd9-5e37-41b7-954f-173a2ab44179	695fd2d7-9426-45e1-81f0-79fbdf6ba0bf	g.chr7:3681627A>T	ENST00000404826.2	+	4	742	c.603A>T	c.(601-603)acA>acT	p.T201T	AC011284.3_ENST00000427920.1_RNA|SDK1_ENST00000389531.3_Silent_p.T201T	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	201	Ig-like C2-type 2.				cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)		p.T201T(1)		NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		AGAGGAAAACAGTTTCTCAAG	0.463																																						ENST00000404826.2																			1	Substitution - coding silent(1)	p.T201T(1)	prostate(1)	NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153						c.(601-603)acA>acT		sidekick cell adhesion molecule 1							108	100	103					7																	3681627		2203	4300	6503	SO:0001819	synonymous_variant	221935				cell adhesion	integral to membrane		g.chr7:3681627A>T	AK074077	CCDS34590.1	7p22.3	2013-02-11	2011-12-09		ENSG00000146555	ENSG00000146555		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	19307	protein-coding gene	gene with protein product		607216	"sidekick homolog 1 (chicken)", "sidekick homolog 1, cell adhesion molecule (chicken)"			12230981, 17307840, 15213259	Standard	NM_001079653		Approved	FLJ31425	uc003smx.3	Q7Z5N4	OTTHUMG00000151733	ENST00000404826.2:c.603A>T	7.37:g.3681627A>T						SDK1_ENST00000389531.3_Silent_p.T201T	p.T201T	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)	4	742	+		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)	201			Ig-like C2-type 2.		Q8TEN9|Q8TEP5|Q96N44	Silent	SNP	ENST00000404826.2	37	c.603A>T	CCDS34590.1																																																																																				0.463	SDK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323702.1	NM_152744		7	203	0	0	0	1	0	7	203					T	3681627	A	T	3681627	2	4	45	1	0	0	0	0	0	0	0	1	13968	175	7	5		5	SDK1	7	3681627	Silent	SNP	A	TCGA-EJ-5495-01A-01D-1576-08		3681627	155457036	34	2420											
EGFR	1956	broad.mit.edu	37	chr7	55273231	55273231	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	caaggaagccaagccaaatgGcatctttaagggctccacag	14	6	10	11	0	1	0	0	0	1	0	2	1	2	1	3	3	2	2	3	3	5	2			TCGA-EJ-5495-01A-01D-1576-08	TCGA-EJ-5495-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a06cd9-5e37-41b7-954f-173a2ab44179	695fd2d7-9426-45e1-81f0-79fbdf6ba0bf	g.chr7:55273231G>T	ENST00000275493.2	+	28	3731	c.3554G>T	c.(3553-3555)gGc>gTc	p.G1185V	EGFR_ENST00000442591.1_Intron|EGFR_ENST00000454757.2_Missense_Mutation_p.G1132V	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	1185					activation of phospholipase A2 activity by calcium-mediated signaling (GO:0043006)|activation of phospholipase C activity (GO:0007202)|alkanesulfonate metabolic process (GO:0019694)|astrocyte activation (GO:0048143)|axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular response to amino acid stimulus (GO:0071230)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to drug (GO:0035690)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to estradiol stimulus (GO:0071392)|cellular response to mechanical stimulus (GO:0071260)|cerebral cortex cell migration (GO:0021795)|circadian rhythm (GO:0007623)|digestive tract morphogenesis (GO:0048546)|diterpenoid metabolic process (GO:0016101)|embryonic placenta development (GO:0001892)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hair follicle development (GO:0001942)|hydrogen peroxide metabolic process (GO:0042743)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|liver development (GO:0001889)|lung development (GO:0030324)|magnesium ion homeostasis (GO:0010960)|MAPK cascade (GO:0000165)|morphogenesis of an epithelial fold (GO:0060571)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein catabolic process (GO:0042177)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|polysaccharide metabolic process (GO:0005976)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of DNA repair (GO:0045739)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasoconstriction (GO:0045907)|positive regulation of vasodilation (GO:0045909)|protein autophosphorylation (GO:0046777)|protein insertion into membrane (GO:0051205)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to calcium ion (GO:0051592)|response to cobalamin (GO:0033590)|response to hydroxyisoflavone (GO:0033594)|response to osmotic stress (GO:0006970)|response to oxidative stress (GO:0006979)|response to stress (GO:0006950)|response to UV-A (GO:0070141)|salivary gland morphogenesis (GO:0007435)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|tongue development (GO:0043586)|translation (GO:0006412)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|Shc-EGFR complex (GO:0070435)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|epidermal growth factor-activated receptor activity (GO:0005006)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)|ubiquitin protein ligase binding (GO:0031625)	p.G1185V(2)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Afatinib(DB08916)|Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)|Vandetanib(DB05294)	AAGCCAAATGGCATCTTTAAG	0.527		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																												ENST00000275493.2		8	yes	Dom	yes	Familial lung cancer	7	7p12.3-p12.1	1956	"A, O, Mis"	"epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)"			"E, O"		NSCLC	"glioma, NSCLC"		2	Substitution - Missense(2)	p.G1185V(2)	prostate(2)	NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110						c.(3553-3555)gGc>gTc		epidermal growth factor receptor	Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)						68	62	64					7																	55273231		2203	4300	6503	SO:0001583	missense	1956	Lung Cancer, Familial Clustering of	Familial Cancer Database	incl. Hereditary Lung cancer, Hereditary Non-Small Cell Lung cancer	activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	g.chr7:55273231G>T		CCDS5514.1, CCDS5515.1, CCDS5516.1, CCDS47587.1	7p12	2014-09-17	2010-06-25		ENSG00000146648	ENSG00000146648			3236	protein-coding gene	gene with protein product	"erythroblastic leukemia viral (v-erb-b) oncogene homolog (avian)"	131550	"epidermal growth factor receptor (avian erythroblastic leukemia viral (v-erb-b) oncogene homolog)"	ERBB		1505215	Standard	NM_201282		Approved	ERBB1	uc003tqk.3	P00533	OTTHUMG00000023661	ENST00000275493.2:c.3554G>T	7.37:g.55273231G>T	ENSP00000275493:p.Gly1185Val	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)				EGFR_ENST00000454757.2_Missense_Mutation_p.G1132V|EGFR_ENST00000442591.1_Intron	p.G1185V	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		28	3731	+	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		1185					O00688|O00732|P06268|Q14225|Q68GS5|Q92795|Q9BZS2|Q9GZX1|Q9H2C9|Q9H3C9|Q9UMD7|Q9UMD8|Q9UMG5	Missense_Mutation	SNP	ENST00000275493.2	37	c.3554G>T	CCDS5514.1	.	.	.	.	.	.	.	.	.	.	G	11.93	1.786059	0.31593	.	.	ENSG00000146648	ENST00000395504;ENST00000275493;ENST00000454757	D;T	0.81659	-1.52;-1.49	5.34	4.46	0.54185	.	0.094102	0.64402	D	0.000001	D	0.89192	0.6645	M	0.83012	2.62	0.80722	D	1	D	0.71674	0.998	D	0.64144	0.922	D	0.91009	0.4848	10	0.87932	D	0	.	15.1485	0.72677	0.0:0.1422:0.8578:0.0	.	1185	P00533	EGFR_HUMAN	V	1055;1185;1132	ENSP00000275493:G1185V;ENSP00000395243:G1132V	ENSP00000275493:G1185V	G	+	2	0	EGFR	55240725	1.000000	0.71417	0.057000	0.19452	0.050000	0.14768	6.934000	0.75880	1.377000	0.46286	0.558000	0.71614	GGC		0.527	EGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251456.2	NM_005228		9	74	1	0	2.74318e-10	1	3.25118e-10	9	74					T	55273231	G	T	55273231	3	4	45	1	0	0	0	0	1	0	0	0	4967	1203	42	5	3928	5	EGFR	7	55273231	Missense_Mutation	SNP	G	TCGA-EJ-5495-01A-01D-1576-08	51591604	55273231	103865432	35	2421											
CTTNBP2	83992	broad.mit.edu	37	chr7	117432054	117432054	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cagcgttactgggaagtgggGgtgtgctactggttggatct	6	12	17	6	1	1	0	0	0	1	0	1	2	1	2	0	5	4	3	0	5	3	3			TCGA-EJ-5495-01A-01D-1576-08	TCGA-EJ-5495-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a06cd9-5e37-41b7-954f-173a2ab44179	695fd2d7-9426-45e1-81f0-79fbdf6ba0bf	g.chr7:117432054G>A	ENST00000160373.3	-	4	1287	c.1196C>T	c.(1195-1197)cCc>cTc	p.P399L	CTTNBP2_ENST00000487820.1_5'Flank	NM_033427.2	NP_219499.1	Q8WZ74	CTTB2_HUMAN	cortactin binding protein 2	399	Pro-rich.				brain development (GO:0007420)	cell projection (GO:0042995)|synaptic vesicle (GO:0008021)		p.P399L(1)		breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83	Lung NSC(10;0.0018)|all_lung(10;0.002)			LUSC - Lung squamous cell carcinoma(290;0.133)		GGGAAGTGGGGGTGTGCTACT	0.527																																						ENST00000160373.3																			1	Substitution - Missense(1)	p.P399L(1)	prostate(1)	breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83						c.(1195-1197)cCc>cTc		cortactin binding protein 2							198	168	178					7																	117432054		2203	4300	6503	SO:0001583	missense	83992							g.chr7:117432054G>A		CCDS5774.1	7q31	2013-01-10	2004-06-08	2004-06-09	ENSG00000077063	ENSG00000077063		"Ankyrin repeat domain containing"	15679	protein-coding gene	gene with protein product		609772	"cortactin binding protein 2"	CORTBP2, C7orf8		11707066	Standard	XM_005250635		Approved	KIAA1758, Orf4	uc003vjf.3	Q8WZ74	OTTHUMG00000022880	ENST00000160373.3:c.1196C>T	7.37:g.117432054G>A	ENSP00000160373:p.Pro399Leu						p.P399L	NM_033427.2	NP_219499.1	Q8WZ74	CTTB2_HUMAN		LUSC - Lung squamous cell carcinoma(290;0.133)	4	1287	-	Lung NSC(10;0.0018)|all_lung(10;0.002)		399			Pro-rich.		O43389|Q7LG11|Q9C0A5	Missense_Mutation	SNP	ENST00000160373.3	37	c.1196C>T	CCDS5774.1	.	.	.	.	.	.	.	.	.	.	G	0.012	-1.674142	0.00758	.	.	ENSG00000077063	ENST00000160373	T	0.64991	-0.13	4.65	3.75	0.43078	.	0.623347	0.16522	N	0.210741	T	0.62804	0.2458	M	0.73962	2.25	0.44515	D	0.997468	B	0.16802	0.019	B	0.15484	0.013	T	0.61004	-0.7150	10	0.32370	T	0.25	1.0999	15.137	0.72576	0.0:0.1422:0.8578:0.0	.	399	Q8WZ74	CTTB2_HUMAN	L	399	ENSP00000160373:P399L	ENSP00000160373:P399L	P	-	2	0	CTTNBP2	117219290	0.994000	0.37717	0.080000	0.20451	0.024000	0.10985	4.860000	0.62961	1.290000	0.44636	0.557000	0.71058	CCC		0.527	CTTNBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059201.4	NM_033427		92	272	0	0	0	1	0	92	272					A	117432054	G	A	117432054	3	1	45	1	0	0	0	0	1	0	0	0	4045	1232	43	3	3875	3	CTTNBP2	7	117432054	Missense_Mutation	SNP	G	TCGA-EJ-5495-01A-01D-1576-08	62158823	117432054	41706609	36	2422											
ARHGEF10	9639	broad.mit.edu	37	chr8	1851472	1851472	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gctgaagaacacctccaaagGccaccccgacaggctgcctc	11	4	9	17	1	0	2	0	1	0	1	2	3	1	2	6	2	2	2	6	2	3	0			TCGA-EJ-5495-01A-01D-1576-08	TCGA-EJ-5495-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a06cd9-5e37-41b7-954f-173a2ab44179	695fd2d7-9426-45e1-81f0-79fbdf6ba0bf	g.chr8:1851472G>A	ENST00000398564.1	+	16	1751	c.1751G>A	c.(1750-1752)gGc>gAc	p.G584D	ARHGEF10_ENST00000349830.3_Missense_Mutation_p.G559D|ARHGEF10_ENST00000518288.1_Missense_Mutation_p.G583D|ARHGEF10_ENST00000398560.1_Missense_Mutation_p.G545D|ARHGEF10_ENST00000262112.6_Missense_Mutation_p.G584D|ARHGEF10_ENST00000520359.1_Missense_Mutation_p.G521D			O15013	ARHGA_HUMAN	Rho guanine nucleotide exchange factor (GEF) 10	584	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				centrosome duplication (GO:0051298)|myelination in peripheral nervous system (GO:0022011)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of stress fiber assembly (GO:0051496)|spindle assembly involved in mitosis (GO:0090307)	centrosome (GO:0005813)|cytosol (GO:0005829)	kinesin binding (GO:0019894)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.G584D(1)|p.G336D(1)|p.G559D(1)		endometrium(3)|large_intestine(11)|lung(11)|prostate(3)|skin(3)|stomach(3)|urinary_tract(1)	35		Colorectal(14;3.46e-05)|Renal(68;0.000518)|Ovarian(12;0.00409)|Myeloproliferative disorder(644;0.0255)|Hepatocellular(245;0.0834)		COAD - Colon adenocarcinoma(149;1.62e-05)|BRCA - Breast invasive adenocarcinoma(11;1.68e-05)|KIRC - Kidney renal clear cell carcinoma(542;0.00361)|READ - Rectum adenocarcinoma(644;0.0718)		ACCTCCAAAGGCCACCCCGAC	0.537																																						ENST00000518288.1																			3	Substitution - Missense(3)	p.G584D(1)|p.G336D(1)|p.G559D(1)	prostate(3)	endometrium(3)|large_intestine(11)|lung(11)|prostate(3)|skin(3)|stomach(3)|urinary_tract(1)	35						c.(1747-1749)gGc>gAc		Rho guanine nucleotide exchange factor (GEF) 10							126	125	125					8																	1851472		2203	4300	6503	SO:0001583	missense	9639				centrosome duplication|myelination in peripheral nervous system|positive regulation of GTP catabolic process|positive regulation of stress fiber assembly|regulation of Rho protein signal transduction|spindle assembly involved in mitosis	centrosome|cytosol|soluble fraction	kinesin binding|Rho guanyl-nucleotide exchange factor activity	g.chr8:1851472G>A	AF009205	CCDS34794.1	8p23	2014-09-17			ENSG00000104728	ENSG00000104728		"Rho guanine nucleotide exchange factors"	14103	protein-coding gene	gene with protein product		608136				9205841, 16896804	Standard	XM_005266039		Approved	KIAA0294, Gef10	uc003wpr.3	O15013	OTTHUMG00000163626	ENST00000398564.1:c.1751G>A	8.37:g.1851472G>A	ENSP00000381571:p.Gly584Asp					ARHGEF10_ENST00000398560.1_Missense_Mutation_p.G545D|ARHGEF10_ENST00000349830.3_Missense_Mutation_p.G559D|ARHGEF10_ENST00000262112.6_Missense_Mutation_p.G584D|ARHGEF10_ENST00000520359.1_Missense_Mutation_p.G521D|ARHGEF10_ENST00000398564.1_Missense_Mutation_p.G584D	p.G583D			O15013	ARHGA_HUMAN		COAD - Colon adenocarcinoma(149;1.62e-05)|BRCA - Breast invasive adenocarcinoma(11;1.68e-05)|KIRC - Kidney renal clear cell carcinoma(542;0.00361)|READ - Rectum adenocarcinoma(644;0.0718)	17	1911	+		Colorectal(14;3.46e-05)|Renal(68;0.000518)|Ovarian(12;0.00409)|Myeloproliferative disorder(644;0.0255)|Hepatocellular(245;0.0834)	584			DH.		O14665|Q2KHR8|Q68D55|Q8IWD9|Q8IY77	Missense_Mutation	SNP	ENST00000398564.1	37	c.1748G>A		.	.	.	.	.	.	.	.	.	.	G	17.06	3.293141	0.60086	.	.	ENSG00000104728	ENST00000349830;ENST00000520359;ENST00000518288;ENST00000398560;ENST00000398564;ENST00000262112;ENST00000522435	T;T;T;T;T;T;T	0.61040	0.14;0.14;0.14;0.14;0.14;0.14;0.14	5.06	5.06	0.68205	Dbl homology (DH) domain (5);	0.000000	0.85682	D	0.000000	T	0.66626	0.2808	N	0.25647	0.755	0.80722	D	1	D;P;D;D	0.89917	1.0;0.858;1.0;1.0	D;P;D;D	0.97110	1.0;0.627;1.0;0.998	T	0.70132	-0.4956	10	0.56958	D	0.05	-34.2797	18.4361	0.90646	0.0:0.0:1.0:0.0	.	584;545;521;559	O15013;E9PB39;O15013-7;O15013-5	ARHGA_HUMAN;.;.;.	D	559;521;583;545;584;584;232	ENSP00000340297:G559D;ENSP00000427909:G521D;ENSP00000431012:G583D;ENSP00000381568:G545D;ENSP00000381571:G584D;ENSP00000262112:G584D;ENSP00000427768:G232D	ENSP00000262112:G584D	G	+	2	0	ARHGEF10	1838879	1.000000	0.71417	0.516000	0.27786	0.029000	0.11900	8.989000	0.93506	2.344000	0.79699	0.511000	0.50034	GGC		0.537	ARHGEF10-203	KNOWN	basic	protein_coding	protein_coding				43	221	0	0	0	1	0	43	221					A	1851472	G	A	1851472	3	1	45	1	0	0	0	0	1	0	0	0	894	1203	42	3	1734	3	ARHGEF10	8	1851472	Missense_Mutation	SNP	G	TCGA-EJ-5495-01A-01D-1576-08		1851472	144512550	37	2423											
KCNS2	3788	broad.mit.edu	37	chr8	99440309	99440309	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aggaggctgcgctcgcacacGctgctgcgcttccccgagac	6	6	13	16	5	0	1	0	0	0	1	2	3	1	2	2	2	3	6	2	2	0	1			TCGA-EJ-5495-01A-01D-1576-08	TCGA-EJ-5495-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a06cd9-5e37-41b7-954f-173a2ab44179	695fd2d7-9426-45e1-81f0-79fbdf6ba0bf	g.chr8:99440309G>T	ENST00000287042.4	+	2	452	c.102G>T	c.(100-102)acG>acT	p.T34T	KCNS2_ENST00000521839.1_Silent_p.T34T	NM_020697.2	NP_065748.1	Q9ULS6	KCNS2_HUMAN	potassium voltage-gated channel, delayed-rectifier, subfamily S, member 2	34					protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)	p.T34T(1)		autonomic_ganglia(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	31	Breast(36;2.4e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.0448)			GCTCGCACACGCTGCTGCGCT	0.672																																					Pancreas(138;844 2489 9202 24627)	ENST00000287042.4																			1	Substitution - coding silent(1)	p.T34T(1)	prostate(1)	autonomic_ganglia(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	31						c.(100-102)acG>acT		potassium voltage-gated channel, delayed-rectifier, subfamily S, member 2							43	39	41					8																	99440309		2203	4299	6502	SO:0001819	synonymous_variant	3788					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr8:99440309G>T	AB032970	CCDS6279.1	8q22	2011-07-05			ENSG00000156486	ENSG00000156486		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6301	protein-coding gene	gene with protein product		602906				9305895, 16382104	Standard	NM_020697		Approved	Kv9.2	uc003yin.3	Q9ULS6	OTTHUMG00000044337	ENST00000287042.4:c.102G>T	8.37:g.99440309G>T						KCNS2_ENST00000521839.1_Silent_p.T34T	p.T34T	NM_020697.2	NP_065748.1	Q9ULS6	KCNS2_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.0448)		2	452	+	Breast(36;2.4e-06)		34					A8KAN1	Silent	SNP	ENST00000287042.4	37	c.102G>T	CCDS6279.1																																																																																				0.672	KCNS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103134.1	NM_020697		3	71	1	0	1	1	1	3	71					T	99440309	G	T	99440309	2	4	45	1	0	0	0	0	0	0	0	1	8089	1074	38	5		5	KCNS2	8	99440309	Silent	SNP	G	TCGA-EJ-5495-01A-01D-1576-08	97588837	99440309	46923713	38	2424											
ZCCHC7	84186	broad.mit.edu	37	chr9	37126633	37126633	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctgatgaagacagtatttatAgatgtaaaggaaagaatgtt	17	12	10	2	0	0	5	0	2	0	3	0	6	0	6	0	1	0	3	0	1	8	6	rs201130697		TCGA-EJ-5495-01A-01D-1576-08	TCGA-EJ-5495-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a06cd9-5e37-41b7-954f-173a2ab44179	695fd2d7-9426-45e1-81f0-79fbdf6ba0bf	g.chr9:37126633A>G	ENST00000336755.5	+	2	410	c.304A>G	c.(304-306)Aga>Gga	p.R102G	ZCCHC7_ENST00000461038.1_3'UTR|ZCCHC7_ENST00000534928.1_Intron|ZCCHC7_ENST00000322831.6_Missense_Mutation_p.R101G	NM_032226.2	NP_115602.2	Q8N3Z6	ZCHC7_HUMAN	zinc finger, CCHC domain containing 7	102						cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.R102G(1)		central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	30				GBM - Glioblastoma multiforme(29;0.0137)		CAGTATTTATAGATGTAAAGG	0.393																																						ENST00000336755.5																			1	Substitution - Missense(1)	p.R102G(1)	prostate(1)	central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	30						c.(304-306)Aga>Gga		zinc finger, CCHC domain containing 7		A	GLY/ARG	1,4405	2.1+/-5.4	0,1,2202	138	139	139		304	5.6	1	9		139	1,8599	1.2+/-3.3	0,1,4299	no	missense	ZCCHC7	NM_032226.2	125	0,2,6501	GG,GA,AA		0.0116,0.0227,0.0154	possibly-damaging	102/544	37126633	2,13004	2203	4300	6503	SO:0001583	missense	84186						nucleic acid binding|zinc ion binding	g.chr9:37126633A>G	AK026264	CCDS6608.2	9p13.1	2008-05-02			ENSG00000147905	ENSG00000147905		"Zinc fingers, CCHC domain containing"	26209	protein-coding gene	gene with protein product							Standard	NM_032226		Approved	FLJ22611, AIR1	uc003zzq.3	Q8N3Z6	OTTHUMG00000019915	ENST00000336755.5:c.304A>G	9.37:g.37126633A>G	ENSP00000337839:p.Arg102Gly					ZCCHC7_ENST00000322831.6_Missense_Mutation_p.R101G|ZCCHC7_ENST00000461038.1_3'UTR|ZCCHC7_ENST00000534928.1_Intron	p.R102G	NM_032226.2	NP_115602.2	Q8N3Z6	ZCHC7_HUMAN		GBM - Glioblastoma multiforme(29;0.0137)	2	410	+			102					B2RCI4|D3DRQ0|Q5T0Q8|Q5T0Q9|Q5T0R0|Q8N2M1|Q8N4J2|Q8TBK8|Q9H648|Q9P0F0	Missense_Mutation	SNP	ENST00000336755.5	37	c.304A>G	CCDS6608.2	.	.	.	.	.	.	.	.	.	.	A	14.93	2.682725	0.47991	2.27E-4	1.16E-4	ENSG00000147905	ENST00000336755;ENST00000322831	T;T	0.46063	1.48;0.88	5.64	5.64	0.86602	.	0.433846	0.27004	N	0.021417	T	0.42921	0.1224	L	0.56769	1.78	0.80722	D	1	P;P	0.38922	0.634;0.651	B;B	0.36845	0.234;0.165	T	0.46569	-0.9182	10	0.66056	D	0.02	-15.7153	16.1412	0.81522	1.0:0.0:0.0:0.0	.	102;102	Q8N3Z6-2;Q8N3Z6	.;ZCHC7_HUMAN	G	102;101	ENSP00000337839:R102G;ENSP00000316365:R101G	ENSP00000316365:R101G	R	+	1	2	ZCCHC7	37116633	1.000000	0.71417	0.997000	0.53966	0.860000	0.49131	2.840000	0.48215	2.267000	0.75376	0.519000	0.50382	AGA		0.393	ZCCHC7-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052453.2	NM_032226		13	448	0	0	0	1	0	13	448					G	37126633	A	G	37126633	3	3	45	1	0	0	0	0	1	0	0	0	17590	412	15	4	306	4	ZCCHC7	9	37126633	Missense_Mutation	SNP	A	TCGA-EJ-5495-01A-01D-1576-08		37126633	104086798	39	2425											
HSDL2	84263	broad.mit.edu	37	chr9	115200783	115200783	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtgtagaaaagttgatatcaTtgcagatgcagcatattcca	14	12	9	6	0	1	3	1	1	0	2	2	3	2	3	1	0	3	5	1	0	5	6			TCGA-EJ-5495-01A-01D-1576-08	TCGA-EJ-5495-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a06cd9-5e37-41b7-954f-173a2ab44179	695fd2d7-9426-45e1-81f0-79fbdf6ba0bf	g.chr9:115200783T>C	ENST00000398805.3	+	7	898	c.671T>C	c.(670-672)aTt>aCt	p.I224T	HSDL2_ENST00000539114.1_Missense_Mutation_p.I19T|HSDL2_ENST00000398803.1_Missense_Mutation_p.I151T|HSDL2_ENST00000262542.7_Missense_Mutation_p.I104T|HSDL2_ENST00000488101.1_3'UTR	NM_032303.4	NP_115679.2	Q6YN16	HSDL2_HUMAN	hydroxysteroid dehydrogenase like 2	224						membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisome (GO:0005777)	oxidoreductase activity (GO:0016491)	p.I224T(1)		NS(1)|breast(2)|cervix(2)|endometrium(1)|large_intestine(2)|lung(2)|prostate(1)|upper_aerodigestive_tract(2)	13						GTTGATATCATTGCAGATGCA	0.368																																						ENST00000398805.3																			1	Substitution - Missense(1)	p.I224T(1)	prostate(1)	NS(1)|breast(2)|cervix(2)|endometrium(1)|large_intestine(2)|lung(2)|prostate(1)|upper_aerodigestive_tract(2)	13						c.(670-672)aTt>aCt		hydroxysteroid dehydrogenase like 2							82	75	77					9																	115200783		1882	4101	5983	SO:0001583	missense	84263					peroxisome	oxidoreductase activity|sterol binding	g.chr9:115200783T>C	AY093428	CCDS43864.1, CCDS56582.1	9q32	2011-09-14			ENSG00000119471	ENSG00000119471		"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"	18572	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 13C, member 1"		"chromosome 9 open reading frame 99"	C9orf99		12834046, 19027726	Standard	NM_032303		Approved	SDR13C1	uc004bga.2	Q6YN16	OTTHUMG00000020504	ENST00000398805.3:c.671T>C	9.37:g.115200783T>C	ENSP00000381785:p.Ile224Thr					HSDL2_ENST00000262542.7_Missense_Mutation_p.I104T|HSDL2_ENST00000398803.1_Missense_Mutation_p.I151T|HSDL2_ENST00000488101.1_3'UTR|HSDL2_ENST00000539114.1_Missense_Mutation_p.I19T	p.I224T	NM_032303.4	NP_115679.2	Q6YN16	HSDL2_HUMAN			7	898	+			224					A8K1L4|A8K8X1|A8MSV3|Q658M8|Q9BT58	Missense_Mutation	SNP	ENST00000398805.3	37	c.671T>C	CCDS43864.1	.	.	.	.	.	.	.	.	.	.	T	15.80	2.939946	0.52972	.	.	ENSG00000119471	ENST00000398805;ENST00000398803;ENST00000262542;ENST00000539114	D;D;T;T	0.90504	-2.68;-2.68;1.93;1.9	5.58	4.45	0.53987	.	0.087478	0.85682	D	0.000000	D	0.93446	0.7909	L	0.47716	1.5	0.54753	D	0.999983	B;P	0.34826	0.013;0.471	B;P	0.62184	0.139;0.899	D	0.92754	0.6218	10	0.72032	D	0.01	.	11.0328	0.47783	0.0:0.0723:0.0:0.9277	.	151;224	Q6YN16-2;Q6YN16	.;HSDL2_HUMAN	T	224;151;104;19	ENSP00000381785:I224T;ENSP00000381783:I151T;ENSP00000262542:I104T;ENSP00000442278:I19T	ENSP00000262542:I104T	I	+	2	0	HSDL2	114240604	1.000000	0.71417	0.963000	0.40424	0.942000	0.58702	7.646000	0.83445	0.971000	0.38288	0.402000	0.26972	ATT		0.368	HSDL2-002	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053681.1	NM_032303		21	126	0	0	0	1	0	21	126					C	115200783	T	C	115200783	3	2	45	1	0	0	0	0	1	0	0	0	7394	1493	52	4	697	4	HSDL2	9	115200783	Missense_Mutation	SNP	T	TCGA-EJ-5495-01A-01D-1576-08	78074150	115200783	26012648	40	2426											
GAPVD1	26130	broad.mit.edu	37	chr9	128113082	128113086	+	Frame_Shift_Del	DEL	TGCGC	TGCGC	-																															ggctcaacttcaagaaacaaTgcgctgtgtgtgccgttttg																								rs537643704		TCGA-EJ-5495-01A-01D-1576-08	TCGA-EJ-5495-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a06cd9-5e37-41b7-954f-173a2ab44179	695fd2d7-9426-45e1-81f0-79fbdf6ba0bf	g.chr9:128113082_128113086delTGCGC	ENST00000495955.1	+	23	3844_3848	c.3554_3558delTGCGC	c.(3553-3558)atgcgcfs	p.MR1185fs	GAPVD1_ENST00000312123.9_Frame_Shift_Del_p.MR1146fs|GAPVD1_ENST00000297933.6_Frame_Shift_Del_p.MR1167fs|GAPVD1_ENST00000265956.4_Frame_Shift_Del_p.MR1159fs|GAPVD1_ENST00000394083.2_Frame_Shift_Del_p.MR1119fs|GAPVD1_ENST00000470056.1_Frame_Shift_Del_p.MR1140fs|GAPVD1_ENST00000394104.2_Frame_Shift_Del_p.MR1185fs|GAPVD1_ENST00000394105.2_Frame_Shift_Del_p.MR1194fs			Q14C86	GAPD1_HUMAN	GTPase activating protein and VPS9 domains 1	1185					endocytosis (GO:0006897)|positive regulation of GTPase activity (GO:0043547)|regulation of protein transport (GO:0051223)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)	cytosol (GO:0005829)|endosome (GO:0005768)|membrane (GO:0016020)	GTPase activating protein binding (GO:0032794)|GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)			central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(10)|lung(11)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						CAAGAAACAATGCGCTGTGTGTGCC	0.361																																						ENST00000470056.1																			0				central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(10)|lung(11)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						c.(3418-3423)afs		GTPase activating protein and VPS9 domains 1																																				SO:0001589	frameshift_variant	26130				endocytosis|regulation of protein transport|regulation of small GTPase mediated signal transduction|signal transduction	cytosol|endosome|membrane	GTPase activating protein binding|GTPase activator activity|guanyl-nucleotide exchange factor activity	g.chr9:128113082_128113086delTGCGC		CCDS65130.1, CCDS65131.1, CCDS65132.1	9q34.11	2008-02-05			ENSG00000165219	ENSG00000165219			23375	protein-coding gene	gene with protein product		611714					Standard	XM_005251901		Approved	DKFZP434C212, KIAA1521	uc004bpr.3	Q14C86	OTTHUMG00000020678	ENST00000495955.1:c.3554_3558delTGCGC	9.37:g.128113082_128113086delTGCGC	ENSP00000419063:p.Met1185fs					GAPVD1_ENST00000297933.6_Frame_Shift_Del_p.MR1167fs|GAPVD1_ENST00000312123.9_Frame_Shift_Del_p.MR1146fs|GAPVD1_ENST00000394083.2_Frame_Shift_Del_p.MR1119fs|GAPVD1_ENST00000265956.4_Frame_Shift_Del_p.MR1159fs|GAPVD1_ENST00000394105.2_Frame_Shift_Del_p.MR1194fs|GAPVD1_ENST00000394104.2_Frame_Shift_Del_p.MR1185fs|GAPVD1_ENST00000495955.1_Frame_Shift_Del_p.MR1185fs	p.MR1140fs			Q14C86	GAPD1_HUMAN			20	3579_3583	+			1185					A8MYK3|B0QZ62|B0QZ63|B0QZ64|Q14C76|Q2Q1W1|Q8ND92|Q8WU86|Q96CZ4|Q9NXQ1|Q9P207|Q9Y4N0	Frame_Shift_Del	DEL	ENST00000495955.1	37	c.3419_3423delTGCGC																																																																																					0.361	GAPVD1-014	KNOWN	alternative_5_UTR|basic	protein_coding	protein_coding	OTTHUMT00000355644.1			32	264						32	264	---	---	---	---	-	128113086	TGCGC	-	128113082	7	5	45	1	0	1	0	1	0	0	0	0	6239	1464	51	0	3663	0	GAPVD1	9	128113082	Frame_Shift_Del	DEL	TGCGC	TCGA-EJ-5495-01A-01D-1576-08	12912299	128113082	13100349	41	2427											
C9orf117	286207	broad.mit.edu	37	chr9	130473624	130473624	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	caaagagaacaacggcattaCcctgcagatggccagggtct	13	6	11	11	1	1	2	0	0	1	2	1	3	1	2	2	3	4	2	2	3	4	1			TCGA-EJ-5495-01A-01D-1576-08	TCGA-EJ-5495-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a06cd9-5e37-41b7-954f-173a2ab44179	695fd2d7-9426-45e1-81f0-79fbdf6ba0bf	g.chr9:130473624C>A	ENST00000373295.2	+	4	744	c.704C>A	c.(703-705)aCc>aAc	p.T235N	C9orf117_ENST00000373293.5_5'Flank	NM_001012502.2	NP_001012520.2	Q5JU67	CI117_HUMAN	chromosome 9 open reading frame 117	235								p.T235N(1)		breast(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)	6						AACGGCATTACCCTGCAGATG	0.557																																						ENST00000373295.2																			1	Substitution - Missense(1)	p.T235N(1)	prostate(1)	breast(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)	6						c.(703-705)aCc>aAc		chromosome 9 open reading frame 117							66	68	67					9																	130473624		1988	4173	6161	SO:0001583	missense	286207							g.chr9:130473624C>A	AK094948	CCDS43878.1	9q34.11	2012-04-02			ENSG00000160401	ENSG00000160401			27843	protein-coding gene	gene with protein product							Standard	NM_001012502		Approved		uc004brn.1	Q5JU67	OTTHUMG00000020709	ENST00000373295.2:c.704C>A	9.37:g.130473624C>A	ENSP00000362392:p.Thr235Asn						p.T235N	NM_001012502.2	NP_001012520.2	Q5JU67	CI117_HUMAN			4	744	+			235					A5D8T9	Missense_Mutation	SNP	ENST00000373295.2	37	c.704C>A	CCDS43878.1	.	.	.	.	.	.	.	.	.	.	C	4.162	0.028595	0.08054	.	.	ENSG00000160401	ENST00000373295	T	0.41758	0.99	5.49	2.54	0.30619	.	0.230436	0.42964	D	0.000625	T	0.28896	0.0717	L	0.43152	1.355	0.29780	N	0.834099	B	0.29862	0.259	B	0.22753	0.041	T	0.18903	-1.0322	10	0.14252	T	0.57	-30.3228	10.4798	0.44687	0.1393:0.455:0.4057:0.0	.	235	Q5JU67	CI117_HUMAN	N	235	ENSP00000362392:T235N	ENSP00000362392:T235N	T	+	2	0	C9orf117	129513445	0.140000	0.22579	0.670000	0.29842	0.021000	0.10359	0.557000	0.23454	0.681000	0.31386	-0.306000	0.09157	ACC		0.557	C9orf117-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054215.2	NM_001012502		11	93	1	0	3.86212e-05	1	4.29871e-05	11	93					A	130473624	C	A	130473624	3	1	45	1	0	0	0	0	1	0	0	0	2451	507	18	5	718	5	C9orf117	9	130473624	Missense_Mutation	SNP	C	TCGA-EJ-5495-01A-01D-1576-08	2360542	130473624	10739807	42	2428											
LCN2	3934	broad.mit.edu	37	chr9	130913928	130913928	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcccaaggaaaaagaagtGtgactactggatcaggactt	14	8	10	9	0	1	2	1	1	0	1	2	5	2	5	2	3	1	0	2	3	5	2			TCGA-EJ-5495-01A-01D-1576-08	TCGA-EJ-5495-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a06cd9-5e37-41b7-954f-173a2ab44179	695fd2d7-9426-45e1-81f0-79fbdf6ba0bf	g.chr9:130913928G>A	ENST00000373017.1	+	4	524	c.287G>A	c.(286-288)tGt>tAt	p.C96Y	LCN2_ENST00000277480.2_Missense_Mutation_p.C96Y|LCN2_ENST00000540948.1_Missense_Mutation_p.C96Y|LCN2_ENST00000470902.1_3'UTR|LCN2_ENST00000372998.1_Missense_Mutation_p.C98Y|LCN2_ENST00000373013.2_Missense_Mutation_p.C98Y			P80188	NGAL_HUMAN	lipocalin 2	96					apoptotic process (GO:0006915)|innate immune response (GO:0045087)|ion transport (GO:0006811)|iron ion homeostasis (GO:0055072)|siderophore transport (GO:0015891)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	iron ion binding (GO:0005506)|small molecule binding (GO:0036094)|transporter activity (GO:0005215)	p.C96Y(1)		central_nervous_system(1)|lung(3)|prostate(2)|skin(1)|urinary_tract(1)	8						AAAAAGAAGTGTGACTACTGG	0.582																																						ENST00000540948.1																			1	Substitution - Missense(1)	p.C96Y(1)	prostate(1)	central_nervous_system(1)|lung(3)|prostate(2)|skin(1)|urinary_tract(1)	8						c.(286-288)tGt>tAt		lipocalin 2							64	52	56					9																	130913928		2203	4300	6503	SO:0001583	missense	3934				apoptosis|innate immune response|regulation of apoptosis|siderophore transport		iron ion binding|transporter activity	g.chr9:130913928G>A		CCDS6892.1	9q34	2011-10-24	2007-12-18		ENSG00000148346	ENSG00000148346		"Lipocalins"	6526	protein-coding gene	gene with protein product	"oncogene 24p3", "neutrophil gelatinase-associated lipocalin", "siderocalin"	600181	"lipocalin 2 (oncogene 24p3)"			7683678	Standard	NM_005564		Approved	NGAL, 24p3	uc004bto.1	P80188	OTTHUMG00000020734	ENST00000373017.1:c.287G>A	9.37:g.130913928G>A	ENSP00000362108:p.Cys96Tyr					LCN2_ENST00000373017.1_Missense_Mutation_p.C96Y|LCN2_ENST00000373013.2_Missense_Mutation_p.C98Y|LCN2_ENST00000470902.1_3'UTR|LCN2_ENST00000277480.2_Missense_Mutation_p.C96Y|LCN2_ENST00000372998.1_Missense_Mutation_p.C98Y	p.C96Y			P80188	NGAL_HUMAN			3	360	+			96					A6NII8|B4DWV4|B7ZAA2|P30150|Q5SYV9|Q5SYW0|Q6FGL5|Q92683	Missense_Mutation	SNP	ENST00000373017.1	37	c.287G>A	CCDS6892.1	.	.	.	.	.	.	.	.	.	.	G	14.20	2.463514	0.43736	.	.	ENSG00000148346	ENST00000373017;ENST00000277480;ENST00000373013;ENST00000540948;ENST00000372998	T;T;T;T;T	0.15718	2.4;2.4;2.4;2.4;2.4	4.48	3.58	0.41010	Calycin-like (1);Lipocalin/cytosolic fatty-acid binding protein domain (1);Calycin (1);	0.120536	0.38492	N	0.001680	T	0.43897	0.1268	M	0.89095	3.005	0.18873	N	0.999985	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.31696	-0.9934	10	0.87932	D	0	-10.3915	8.4588	0.32915	0.1062:0.0:0.8938:0.0	.	96;96	P80188-2;P80188	.;NGAL_HUMAN	Y	96;96;98;96;98	ENSP00000362108:C96Y;ENSP00000277480:C96Y;ENSP00000362104:C98Y;ENSP00000441666:C96Y;ENSP00000362089:C98Y	ENSP00000277480:C96Y	C	+	2	0	LCN2	129953749	0.982000	0.34865	0.031000	0.17742	0.013000	0.08279	3.107000	0.50329	1.266000	0.44231	0.558000	0.71614	TGT		0.582	LCN2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000054375.1	NM_005564		21	117	0	0	0	1	0	21	117					A	130913928	G	A	130913928	3	1	45	1	0	0	0	0	1	0	0	0	8684	1377	48	3	297	3	LCN2	9	130913928	Missense_Mutation	SNP	G	TCGA-EJ-5495-01A-01D-1576-08	440304	130913928	10299503	43	2429											
RAPGEF1	2889	broad.mit.edu	37	chr9	134501446	134501446	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagaatagcagcaaagggcGcgtaggggacggatgggatc	12	4	18	7	3	0	1	0	0	0	1	1	4	0	4	0	5	2	4	0	5	4	2			TCGA-EJ-5495-01A-01D-1576-08	TCGA-EJ-5495-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a06cd9-5e37-41b7-954f-173a2ab44179	695fd2d7-9426-45e1-81f0-79fbdf6ba0bf	g.chr9:134501446G>C	ENST00000372189.3	-	10	1637	c.1514C>G	c.(1513-1515)gCg>gGg	p.A505G	RAPGEF1_ENST00000481260.1_5'Flank|RAPGEF1_ENST00000372195.1_Missense_Mutation_p.A522G|RAPGEF1_ENST00000372190.3_Missense_Mutation_p.A523G	NM_005312.2	NP_005303.2	Q13905	RPGF1_HUMAN	Rap guanine nucleotide exchange factor (GEF) 1	505					activation of MAPKK activity (GO:0000186)|blood vessel development (GO:0001568)|cellular response to cAMP (GO:0071320)|cellular response to nerve growth factor stimulus (GO:1990090)|establishment of endothelial barrier (GO:0061028)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of neural precursor cell proliferation (GO:2000178)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of Ras protein signal transduction (GO:0046580)|nerve growth factor signaling pathway (GO:0038180)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of neuron projection development (GO:0010976)|positive regulation of Rap GTPase activity (GO:0032854)|Rap protein signal transduction (GO:0032486)|regulation of cell junction assembly (GO:1901888)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytosol (GO:0005829)|early endosome (GO:0005769)|endosome (GO:0005768)	Rap guanyl-nucleotide exchange factor activity (GO:0017034)	p.A200G(1)|p.A523G(1)		NS(2)|breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|lung(9)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1)	39		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;2.19e-05)|Epithelial(140;0.000364)		AGCAAAGGGCGCGTAGGGGAC	0.582																																						ENST00000372195.1																			2	Substitution - Missense(2)	p.A200G(1)|p.A523G(1)	prostate(2)	NS(2)|breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|lung(9)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1)	39						c.(1564-1566)gCg>gGg		Rap guanine nucleotide exchange factor (GEF) 1							67	74	72					9																	134501446		2065	4193	6258	SO:0001583	missense	2889				activation of MAPKK activity|nerve growth factor receptor signaling pathway|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|endosome	guanyl-nucleotide exchange factor activity|SH3 domain binding	g.chr9:134501446G>C	BC041710	CCDS48047.1	9q34.3	2008-02-05	2004-03-01	2004-03-02	ENSG00000107263	ENSG00000107263			4568	protein-coding gene	gene with protein product		600303	"guanine nucleotide-releasing factor 2 (specific for crk proto-oncogene)"	GRF2		7959692, 7512734	Standard	NM_005312		Approved	C3G	uc022bos.1	Q13905	OTTHUMG00000020829	ENST00000372189.3:c.1514C>G	9.37:g.134501446G>C	ENSP00000361263:p.Ala505Gly					RAPGEF1_ENST00000372190.3_Missense_Mutation_p.A523G|RAPGEF1_ENST00000372189.3_Missense_Mutation_p.A505G	p.A522G			Q13905	RPGF1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;2.19e-05)|Epithelial(140;0.000364)	10	1808	-		Myeloproliferative disorder(178;0.204)	505					Q5JUE4|Q8IV73	Missense_Mutation	SNP	ENST00000372189.3	37	c.1565C>G	CCDS48047.1	.	.	.	.	.	.	.	.	.	.	G	10.98	1.504768	0.26949	.	.	ENSG00000107263	ENST00000266110;ENST00000372195;ENST00000429421;ENST00000372189;ENST00000372190;ENST00000411834;ENST00000337036;ENST00000372191;ENST00000357686	T;T;T	0.25912	1.77;1.77;1.77	4.85	4.85	0.62838	.	0.410855	0.25708	N	0.028832	T	0.15565	0.0375	N	0.08118	0	0.31445	N	0.671492	B;B;B	0.22800	0.075;0.022;0.037	B;B;B	0.27715	0.038;0.038;0.082	T	0.06285	-1.0835	10	0.16420	T	0.52	.	17.3395	0.87291	0.0:0.0:1.0:0.0	.	522;505;523	Q68DL3;Q13905;Q13905-3	.;RPGF1_HUMAN;.	G	505;522;399;505;523;485;431;200;522	ENSP00000361269:A522G;ENSP00000361263:A505G;ENSP00000361264:A523G	ENSP00000266110:A505G	A	-	2	0	RAPGEF1	133491267	1.000000	0.71417	0.989000	0.46669	0.380000	0.30137	7.023000	0.76437	2.409000	0.81822	0.561000	0.74099	GCG		0.582	RAPGEF1-001	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054759.2	NM_005312		17	92	0	0	0	1	0	17	92					C	134501446	G	C	134501446	3	2	45	1	0	0	0	0	1	0	0	0	13043	1087	38	5	1779	5	RAPGEF1	9	134501446	Missense_Mutation	SNP	G	TCGA-EJ-5495-01A-01D-1576-08	3587518	134501446	6711985	44	2430											
C10orf47	254427	broad.mit.edu	37	chr10	11908743	11908743	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgcagccagcacctggcgccGgggaagccgagggccttcca	7	4	15	15	3	0	0	0	0	0	0	1	2	1	1	6	4	4	2	6	4	1	1	rs142957936		TCGA-EJ-5495-01A-01D-1576-08	TCGA-EJ-5495-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a06cd9-5e37-41b7-954f-173a2ab44179	695fd2d7-9426-45e1-81f0-79fbdf6ba0bf	g.chr10:11908743G>A	ENST00000277570.5	+	3	506	c.352G>A	c.(352-354)Ggg>Agg	p.G118R	PROSER2_ENST00000474155.1_3'UTR|PROSER2-AS1_ENST00000453242.1_RNA|PROSER2_ENST00000379200.1_5'Flank|PROSER2-AS1_ENST00000445498.1_RNA	NM_153256.3	NP_694988.3	Q86WR7	PRSR2_HUMAN	proline and serine rich 2	118								p.G118R(1)									ACCTGGCGCCGGGGAAGCCGA	0.637																																						ENST00000277570.5																			1	Substitution - Missense(1)	p.G118R(1)	prostate(1)								c.(352-354)Ggg>Agg		proline and serine-rich protein 2		G	ARG/GLY	1,4405		0,1,2202	31	31	31		352	2.3	0.2	10	dbSNP_134	31	1,8599		0,1,4299	no	missense	C10orf47	NM_153256.3	125	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	benign	118/436	11908743	2,13004	2203	4300	6503	SO:0001583	missense	254427							g.chr10:11908743G>A	BC017269	CCDS7085.1	10p14	2014-02-19	2014-02-19	2012-12-05	ENSG00000148426	ENSG00000148426			23728	protein-coding gene	gene with protein product			"chromosome 10 open reading frame 47", "proline and serine-rich protein 2"	C10orf47		12477932	Standard	NM_153256		Approved	MGC35403	uc001ikx.3	Q86WR7	OTTHUMG00000017673	ENST00000277570.5:c.352G>A	10.37:g.11908743G>A	ENSP00000277570:p.Gly118Arg					PROSER2-AS1_ENST00000453242.1_RNA|PROSER2_ENST00000474155.1_3'UTR|PROSER2-AS1_ENST00000445498.1_RNA	p.G118R	NM_153256.3	NP_694988.3					3	506	+								D3DRR8|Q5W0J9|Q5W0K0|Q5W0K1|Q5W0K2|Q6PJC8|Q8N317	Missense_Mutation	SNP	ENST00000277570.5	37	c.352G>A	CCDS7085.1	.	.	.	.	.	.	.	.	.	.	G	8.261	0.811262	0.16537	2.27E-4	1.16E-4	ENSG00000148426	ENST00000379208;ENST00000277570;ENST00000379202	T	0.08193	3.12	5.34	2.33	0.28932	.	0.531774	0.18530	N	0.138501	T	0.04679	0.0127	N	0.12961	0.28	0.09310	N	1	B	0.22480	0.07	B	0.16722	0.016	T	0.34229	-0.9837	10	0.87932	D	0	-23.3338	5.3852	0.16215	0.263:0.1489:0.588:0.0	.	118	Q86WR7	CJ047_HUMAN	R	118	ENSP00000277570:G118R	ENSP00000277570:G118R	G	+	1	0	C10orf47	11948749	0.013000	0.17824	0.174000	0.22961	0.002000	0.02628	0.568000	0.23623	0.759000	0.33084	-0.983000	0.02560	GGG		0.637	PROSER2-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090189.2	NM_153256		20	64	0	0	0	1	0	20	64					A	11908743	G	A	11908743	3	1	45	1	0	0	0	0	1	0	0	0	1605	1116	39	2	358	2	C10orf47	10	11908743	Missense_Mutation	SNP	G	TCGA-EJ-5495-01A-01D-1576-08		11908743	123626004	45	2431											
RBP3	5949	broad.mit.edu	37	chr10	48389852	48389852	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtgggcacacggtccaccagCgtgtagtagtccttcaggac	8	8	13	12	2	1	0	1	0	0	0	3	1	3	1	3	3	1	3	3	3	2	3			TCGA-EJ-5495-01A-01D-1576-08	TCGA-EJ-5495-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a06cd9-5e37-41b7-954f-173a2ab44179	695fd2d7-9426-45e1-81f0-79fbdf6ba0bf	g.chr10:48389852C>T	ENST00000224600.4	-	1	1139	c.1026G>A	c.(1024-1026)acG>acA	p.T342T	AL731561.2_ENST00000581861.1_RNA	NM_002900.2	NP_002891.1	P10745	RET3_HUMAN	retinol binding protein 3, interstitial	342	4 X approximate tandem repeats.				lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|transport (GO:0006810)|visual perception (GO:0007601)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|interphotoreceptor matrix (GO:0033165)|vesicle (GO:0031982)	retinal binding (GO:0016918)|retinoid binding (GO:0005501)|retinol binding (GO:0019841)|serine-type peptidase activity (GO:0008236)	p.T342T(1)		central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59					Vitamin A(DB00162)	GGTCCACCAGCGTGTAGTAGT	0.637																																						ENST00000224600.4																			1	Substitution - coding silent(1)	p.T342T(1)	prostate(1)	central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59						c.(1024-1026)acG>acA		retinol binding protein 3, interstitial	Vitamin A(DB00162)						40	39	40					10																	48389852		2203	4300	6503	SO:0001819	synonymous_variant	5949				lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity	g.chr10:48389852C>T	M22453	CCDS73119.1	10q11.2	2014-05-06	2001-11-28		ENSG00000107618	ENSG00000265203			9921	protein-coding gene	gene with protein product		180290	"retinol-binding protein 3, interstitial"				Standard	NM_002900		Approved	D10S64, D10S65, D10S66, RP66	uc001jez.3	P10745	OTTHUMG00000188321	ENST00000224600.4:c.1026G>A	10.37:g.48389852C>T							p.T342T	NM_002900.2	NP_002891.1	P10745	RET3_HUMAN			1	1139	-			342			4 X approximate tandem repeats.		Q0QD34|Q5VSR0|Q8IXN0	Silent	SNP	ENST00000224600.4	37	c.1026G>A	CCDS7218.1																																																																																				0.637	RBP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047888.1	NM_002900		17	82	0	0	0	1	0	17	82					T	48389852	C	T	48389852	2	4	45	1	0	0	0	0	0	0	0	1	13157	755	27	1		1	RBP3	10	48389852	Silent	SNP	C	TCGA-EJ-5495-01A-01D-1576-08	36481109	48389852	87144895	46	2432											
NEUROG3	50674	broad.mit.edu	37	chr10	71332506	71332506	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gcgtccagtgccgagttgagGttgtgcattcgattgcgctc	5	12	14	10	4	0	1	0	1	0	0	3	3	1	1	2	1	3	4	2	1	0	4			TCGA-EJ-5495-01A-01D-1576-08	TCGA-EJ-5495-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a06cd9-5e37-41b7-954f-173a2ab44179	695fd2d7-9426-45e1-81f0-79fbdf6ba0bf	g.chr10:71332506G>T	ENST00000242462.4	-	2	323	c.294C>A	c.(292-294)aaC>aaA	p.N98K		NM_020999.3	NP_066279.2	Q9Y4Z2	NGN3_HUMAN	neurogenin 3	98	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.			N -> D (in Ref. 1; CAB45384). {ECO:0000305}.	central nervous system development (GO:0007417)|endocrine pancreas development (GO:0031018)|epithelial cell differentiation (GO:0030855)|forebrain development (GO:0030900)|hindbrain development (GO:0030902)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|peripheral nervous system development (GO:0007422)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of dendrite morphogenesis (GO:0048814)|spinal cord development (GO:0021510)|transdifferentiation (GO:0060290)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|double-stranded DNA binding (GO:0003690)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|transcription coactivator activity (GO:0003713)	p.N98K(1)		endometrium(4)|large_intestine(2)|lung(6)|prostate(1)	13						CCGAGTTGAGGTTGTGCATTC	0.642																																						ENST00000242462.4																			1	Substitution - Missense(1)	p.N98K(1)	prostate(1)	endometrium(4)|large_intestine(2)|lung(6)|prostate(1)	13						c.(292-294)aaC>aaA		neurogenin 3							102	65	77					10																	71332506		2203	4300	6503	SO:0001583	missense	50674				central nervous system development|endocrine pancreas development|peripheral nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity	nucleus	transcription coactivator activity	g.chr10:71332506G>T	AJ133776	CCDS31212.1	10q21.3	2013-05-21			ENSG00000122859	ENSG00000122859		"Basic helix-loop-helix proteins"	13806	protein-coding gene	gene with protein product		604882				9000438, 10677506	Standard	NM_020999		Approved	Atoh5, Math4B, ngn3, bHLHa7	uc001jpp.3	Q9Y4Z2	OTTHUMG00000018391	ENST00000242462.4:c.294C>A	10.37:g.71332506G>T	ENSP00000242462:p.Asn98Lys						p.N98K	NM_020999.3	NP_066279.2	Q9Y4Z2	NGN3_HUMAN			2	323	-			98	N -> D (in Ref. 1; CAB45384).		Helix-loop-helix motif.		Q5VVI0|Q6DJX6|Q9BY24	Missense_Mutation	SNP	ENST00000242462.4	37	c.294C>A	CCDS31212.1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.322645	0.81580	.	.	ENSG00000122859	ENST00000242462	D	0.97772	-4.53	4.53	4.53	0.55603	Helix-loop-helix DNA-binding (5);	0.000000	0.44902	D	0.000420	D	0.95642	0.8583	L	0.28192	0.835	0.80722	D	1	B	0.33777	0.425	B	0.41374	0.355	D	0.95371	0.8464	10	0.46703	T	0.11	-30.952	15.9925	0.80217	0.0:0.0:1.0:0.0	.	98	Q9Y4Z2	NGN3_HUMAN	K	98	ENSP00000242462:N98K	ENSP00000242462:N98K	N	-	3	2	NEUROG3	71002512	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	4.538000	0.60650	2.307000	0.77673	0.591000	0.81541	AAC		0.642	NEUROG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048464.1	NM_020999		7	44	1	0	0.00307968	1	0.0033126	7	44					T	71332506	G	T	71332506	3	4	45	1	0	0	0	0	1	0	0	0	10354	1252	44	5	354	5	NEUROG3	10	71332506	Missense_Mutation	SNP	G	TCGA-EJ-5495-01A-01D-1576-08	22942654	71332506	64202241	47	2433											
SLC43A3	29015	broad.mit.edu	37	chr11	57182087	57182087	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctgccctcccccgcatctcaCctgtctttcttgcttccttc	2	15	4	20	1	3	0	1	0	3	0	7	0	5	0	5	0	2	2	5	0	0	4			TCGA-EJ-5495-01A-01D-1576-08	TCGA-EJ-5495-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a06cd9-5e37-41b7-954f-173a2ab44179	695fd2d7-9426-45e1-81f0-79fbdf6ba0bf	g.chr11:57182087C>A	ENST00000395123.2	-	11	1365		c.e11+1		SLC43A3_ENST00000533524.1_Splice_Site|SLC43A3_ENST00000529554.1_Splice_Site|SLC43A3_ENST00000352187.1_Splice_Site|SLC43A3_ENST00000528098.1_5'Flank|SLC43A3_ENST00000395124.1_Splice_Site	NM_001278201.1|NM_014096.2	NP_001265130.1|NP_054815.2	Q8NBI5	S43A3_HUMAN	solute carrier family 43, member 3						transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)		p.?(1)		central_nervous_system(1)|endometrium(1)|large_intestine(10)|lung(4)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	27						CCGCATCTCACCTGTCTTTCT	0.512																																						ENST00000395123.2																			1	Unknown(1)	p.?(1)	prostate(1)	central_nervous_system(1)|endometrium(1)|large_intestine(10)|lung(4)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	27						c.e11+1		solute carrier family 43, member 3							121	121	121					11																	57182087		2201	4296	6497	SO:0001630	splice_region_variant	29015				transmembrane transport	integral to membrane		g.chr11:57182087C>A	AL157431	CCDS7956.1, CCDS60784.1	11q11	2013-05-22			ENSG00000134802	ENSG00000134802		"Solute carriers"	17466	protein-coding gene	gene with protein product	"likely ortholog of mouse embryonic epithelial gene 1"					7531438, 11704567	Standard	NM_017611		Approved	SEEEG-1, Eeg1, DKFZp762A227, FOAP-13, PRO1659	uc001nki.3	Q8NBI5	OTTHUMG00000167113	ENST00000395123.2:c.1060+1G>T	11.37:g.57182087C>A						SLC43A3_ENST00000529554.1_Splice_Site|SLC43A3_ENST00000395124.1_Splice_Site|SLC43A3_ENST00000533524.1_Splice_Site|SLC43A3_ENST00000352187.1_Splice_Site		NM_001278201.1|NM_014096.2	NP_001265130.1|NP_054815.2	Q8NBI5	S43A3_HUMAN			11	1365	-								B4DNR8|E7EQD2|Q9NSS4	Splice_Site	SNP	ENST00000395123.2	37		CCDS7956.1	.	.	.	.	.	.	.	.	.	.	C	12.95	2.090246	0.36855	.	.	ENSG00000134802	ENST00000395123;ENST00000395124;ENST00000352187;ENST00000529554;ENST00000533524	.	.	.	4.97	4.97	0.65823	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.7338	0.62804	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SLC43A3	56938663	1.000000	0.71417	1.000000	0.80357	0.275000	0.26752	4.359000	0.59449	2.314000	0.78098	0.462000	0.41574	.		0.512	SLC43A3-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000393057.1	NM_017611	Intron	19	253	1	0	2.4624e-09	1	2.89162e-09	19	253					A	57182087	C	A	57182087	5	1	45	1	0	0	0	0	0	0	1	0	14634	521	18	5	430	5	SLC43A3	11	57182087	Splice_Site	SNP	C	TCGA-EJ-5495-01A-01D-1576-08		57182087	77824429	48	2434											
MPEG1	219972	broad.mit.edu	37	chr11	58979678	58979678	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttggaggaaggaggccctgaGgtggtcctcctgaataagag	10	8	16	7	0	0	3	0	2	0	1	2	6	2	6	3	6	0	0	3	6	3	2			TCGA-EJ-5495-01A-01D-1576-08	TCGA-EJ-5495-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a06cd9-5e37-41b7-954f-173a2ab44179	695fd2d7-9426-45e1-81f0-79fbdf6ba0bf	g.chr11:58979678G>A	ENST00000361050.3	-	1	746	c.661C>T	c.(661-663)Ctc>Ttc	p.L221F	RN7SL42P_ENST00000579786.1_RNA	NM_001039396.1	NP_001034485.1	Q2M385	MPEG1_HUMAN	macrophage expressed 1	221	MACPF. {ECO:0000255|PROSITE- ProRule:PRU00745}.					integral component of membrane (GO:0016021)		p.L221F(1)		NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(21)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		all_epithelial(135;0.125)				GAGGCCCTGAGGTGGTCCTCC	0.572																																						ENST00000361050.3																			1	Substitution - Missense(1)	p.L221F(1)	prostate(1)	NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(21)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						c.(661-663)Ctc>Ttc		macrophage expressed 1							56	55	56					11																	58979678		1960	4127	6087	SO:0001583	missense	219972					integral to membrane		g.chr11:58979678G>A	AK097211	CCDS41650.1	11q12.1	2013-07-31				ENSG00000197629			29619	protein-coding gene	gene with protein product	"macrophage expressed gene 1"	610390				7888681, 23257510	Standard	NM_001039396		Approved	MPG1	uc001nnu.4	Q2M385		ENST00000361050.3:c.661C>T	11.37:g.58979678G>A	ENSP00000354335:p.Leu221Phe						p.L221F	NM_001039396.1	NP_001034485.1	Q2M385	MPEG1_HUMAN			1	746	-		all_epithelial(135;0.125)	221			MACPF.		Q2M1T6|Q8TEF8	Missense_Mutation	SNP	ENST00000361050.3	37	c.661C>T	CCDS41650.1	.	.	.	.	.	.	.	.	.	.	g	8.968	0.972211	0.18736	.	.	ENSG00000197629	ENST00000361050	D	0.85484	-1.99	5.21	-0.457	0.12186	Membrane attack complex component/perforin (MACPF) domain (3);	0.258018	0.33005	N	0.005400	T	0.78227	0.4250	L	0.47190	1.495	0.25942	N	0.982856	P	0.35363	0.497	B	0.39503	0.301	T	0.70212	-0.4934	10	0.72032	D	0.01	-13.4878	5.7602	0.18196	0.0:0.1649:0.4443:0.3908	.	221	Q2M385	MPEG1_HUMAN	F	221	ENSP00000354335:L221F	ENSP00000354335:L221F	L	-	1	0	MPEG1	58736254	0.999000	0.42202	0.957000	0.39632	0.286000	0.27126	1.035000	0.30216	-0.017000	0.14103	-0.265000	0.10407	CTC		0.572	MPEG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370027.1	NM_001039396		12	98	0	0	0	1	0	12	98					A	58979678	G	A	58979678	3	1	45	1	0	0	0	0	1	0	0	0	9723	1000	35	3	1493	3	MPEG1	11	58979678	Missense_Mutation	SNP	G	TCGA-EJ-5495-01A-01D-1576-08	1797591	58979678	76026838	49	2435											
ART4	420	broad.mit.edu	37	chr12	14993378	14993378	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ctcaatttagataaagaataCcttttagcagctgacagtta	15	13	6	7	0	1	3	1	1	0	2	1	3	1	3	1	0	3	3	1	0	8	7			TCGA-EJ-5495-01A-01D-1576-08	TCGA-EJ-5495-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a06cd9-5e37-41b7-954f-173a2ab44179	695fd2d7-9426-45e1-81f0-79fbdf6ba0bf	g.chr12:14993378C>A	ENST00000228936.4	-	2	1235		c.e2+1		C12orf60_ENST00000527783.1_Intron|RP11-233G1.4_ENST00000444324.2_RNA	NM_021071.2	NP_066549.2	Q93070	NAR4_HUMAN	ADP-ribosyltransferase 4 (Dombrock blood group)						arginine metabolic process (GO:0006525)|protein ADP-ribosylation (GO:0006471)	anchored component of membrane (GO:0031225)|membrane (GO:0016020)|plasma membrane (GO:0005886)	NAD(P)+-protein-arginine ADP-ribosyltransferase activity (GO:0003956)	p.?(1)		large_intestine(5)|liver(1)|lung(3)|prostate(1)|skin(2)|stomach(3)	15						ATAAAGAATACCTTTTAGCAG	0.388																																						ENST00000228936.4																			1	Unknown(1)	p.?(1)	prostate(1)	large_intestine(5)|liver(1)|lung(3)|prostate(1)|skin(2)|stomach(3)	15						c.e2+1		ADP-ribosyltransferase 4							47	46	47					12																	14993378		2203	4300	6503	SO:0001630	splice_region_variant	420				arginine metabolic process|protein ADP-ribosylation	anchored to membrane|plasma membrane	NAD(P)+-protein-arginine ADP-ribosyltransferase activity	g.chr12:14993378C>A	X95826	CCDS8668.1	12q13.2-q13.3	2014-07-18	2014-01-02	2006-01-12	ENSG00000111339	ENSG00000111339		"CD molecules", "Blood group antigens"	726	protein-coding gene	gene with protein product		110600	"Dombrock blood group", "ADP-ribosyltransferase 4 (DO blood group)", "ADP-ribosyltransferase 4"	DO		9119374	Standard	NM_021071		Approved	DOK1, CD297	uc001rcl.1	Q93070	OTTHUMG00000168738	ENST00000228936.4:c.853+1G>T	12.37:g.14993378C>A						C12orf60_ENST00000527783.1_Intron		NM_021071.2	NP_066549.2	Q93070	NAR4_HUMAN			2	1235	-								Q9BZ50|Q9BZ51|Q9HB06	Splice_Site	SNP	ENST00000228936.4	37		CCDS8668.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.58|12.58	1.980033|1.980033	0.34942|0.34942	.|.	.|.	ENSG00000111339|ENSG00000111339	ENST00000228936|ENST00000420600	.|T	.|0.10763	.|2.84	3.47|3.47	1.4|1.4	0.22301|0.22301	.|.	.|.	.|.	.|.	.|.	.|T	.|0.19685	.|0.0473	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.01413	.|-1.1361	.|6	.|0.72032	.|D	.|0.01	.|.	9.3461|9.3461	0.38109|0.38109	0.5109:0.4891:0.0:0.0|0.5109:0.4891:0.0:0.0	.|.	.|.	.|.	.|.	.|V	-1|268	.|ENSP00000405689:G268V	.|ENSP00000405689:G268V	.|G	-|-	.|2	.|0	ART4|ART4	14884645|14884645	.|.	.|.	0.885000|0.885000	0.34714|0.34714	0.928000|0.928000	0.56348|0.56348	.|.	.|.	0.344000|0.344000	0.23847|0.23847	0.655000|0.655000	0.94253|0.94253	.|GGT		0.388	ART4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400859.1	NM_021071	Intron	17	109	1	0	2.23348e-06	1	2.52996e-06	17	109					A	14993378	C	A	14993378	5	1	45	1	0	0	0	0	0	0	1	0	999	521	18	5	98	5	ART4	12	14993378	Splice_Site	SNP	C	TCGA-EJ-5495-01A-01D-1576-08		14993378	118858517	50	2436											
MLL2	8085	broad.mit.edu	37	chr12	49443872	49443872	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cttgcattcggggtagacctCcataggggtcacaggggcca	8	8	14	11	1	1	1	1	0	0	1	3	1	2	1	3	6	1	2	3	6	2	4			TCGA-EJ-5495-01A-01D-1576-08	TCGA-EJ-5495-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a06cd9-5e37-41b7-954f-173a2ab44179	695fd2d7-9426-45e1-81f0-79fbdf6ba0bf	g.chr12:49443872C>A	ENST00000301067.7	-	11	3498	c.3499G>T	c.(3499-3501)Gag>Tag	p.E1167*		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	1167	Pro-rich.				chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.E1167*(1)|p.E894*(1)									GGGTAGACCTCCATAGGGGTC	0.617																																						ENST00000301067.7																			2	Substitution - Nonsense(2)	p.E1167*(1)|p.E894*(1)	prostate(2)								c.(3499-3501)Gag>Tag		lysine (K)-specific methyltransferase 2D							59	64	62					12																	49443872		1970	4139	6109	SO:0001587	stop_gained	8085							g.chr12:49443872C>A	AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	7133	protein-coding gene	gene with protein product		602113	"trinucleotide repeat containing 21", "myeloid/lymphoid or mixed-lineage leukemia 2"	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.3499G>T	12.37:g.49443872C>A	ENSP00000301067:p.Glu1167*						p.E1167*	NM_003482.3	NP_003473.3					11	3498	-								O14687	Nonsense_Mutation	SNP	ENST00000301067.7	37	c.3499G>T	CCDS44873.1	.	.	.	.	.	.	.	.	.	.	C	41	8.806158	0.98960	.	.	ENSG00000167548	ENST00000301067	.	.	.	5.4	4.49	0.54785	.	0.000000	0.37348	N	0.002137	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	10.0207	0.42041	0.1557:0.694:0.1502:0.0	.	.	.	.	X	1167	.	ENSP00000301067:E1167X	E	-	1	0	MLL2	47730139	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.513000	0.53414	1.231000	0.43661	0.563000	0.77884	GAG		0.617	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2			28	148	1	0	1.5548e-18	1	1.97044e-18	28	148					A	49443872	C	A	49443872	4	1	45	1	0	0	0	0	0	1	0	0	9621	864	30	5	13290	5	MLL2	12	49443872	Nonsense_Mutation	SNP	C	TCGA-EJ-5495-01A-01D-1576-08	34450494	49443872	84408023	51	2437											
MON2	23041	broad.mit.edu	37	chr12	62946846	62946846	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaattgggtgaactatgtgtGgatccccgtcctgctgtcag	8	12	12	9	1	1	1	1	1	0	0	3	2	3	2	3	2	2	1	3	2	3	2			TCGA-EJ-5495-01A-01D-1576-08	TCGA-EJ-5495-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a06cd9-5e37-41b7-954f-173a2ab44179	695fd2d7-9426-45e1-81f0-79fbdf6ba0bf	g.chr12:62946846G>A	ENST00000393632.2	+	24	3493	c.3102G>A	c.(3100-3102)gtG>gtA	p.V1034V	MON2_ENST00000393630.3_Silent_p.V1035V|MON2_ENST00000280379.6_Silent_p.V1035V|MON2_ENST00000552115.1_Silent_p.V1034V|MON2_ENST00000552738.1_Silent_p.V1011V|MON2_ENST00000546600.1_Silent_p.V1034V|MON2_ENST00000393629.2_Silent_p.V1034V	NM_015026.2	NP_055841.2	Q7Z3U7	MON2_HUMAN	MON2 homolog (S. cerevisiae)	1034					actin cytoskeleton organization (GO:0030036)|Golgi to endosome transport (GO:0006895)|positive regulation of GTPase activity (GO:0043547)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	extracellular vesicular exosome (GO:0070062)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)	p.V1034V(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(15)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	57			BRCA - Breast invasive adenocarcinoma(9;0.218)	GBM - Glioblastoma multiforme(28;0.128)		AACTATGTGTGGATCCCCGTC	0.453																																						ENST00000393630.3																			1	Substitution - coding silent(1)	p.V1034V(1)	prostate(1)	NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(15)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	57						c.(3103-3105)gtG>gtA		MON2 homolog (S. cerevisiae)							234	224	227					12																	62946846		2203	4300	6503	SO:0001819	synonymous_variant	23041				Golgi to endosome transport|protein transport	cytoplasm	ARF guanyl-nucleotide exchange factor activity|binding	g.chr12:62946846G>A		CCDS31849.1, CCDS61175.1, CCDS61177.1, CCDS61178.1	12q14.1	2014-08-12	2006-04-04		ENSG00000061987	ENSG00000061987			29177	protein-coding gene	gene with protein product			"MON2 homolog (yeast)"			16301316, 24285343	Standard	NM_015026		Approved	KIAA1040	uc001sre.3	Q7Z3U7	OTTHUMG00000169992	ENST00000393632.2:c.3102G>A	12.37:g.62946846G>A						MON2_ENST00000280379.6_Silent_p.V1035V|MON2_ENST00000552738.1_Silent_p.V1011V|MON2_ENST00000546600.1_Silent_p.V1034V|MON2_ENST00000552115.1_Silent_p.V1034V|MON2_ENST00000393632.2_Silent_p.V1034V|MON2_ENST00000393629.2_Silent_p.V1034V	p.V1035V	NM_001278470.1|NM_001278472.1	NP_001265399.1|NP_001265401.1	Q7Z3U7	MON2_HUMAN	BRCA - Breast invasive adenocarcinoma(9;0.218)	GBM - Glioblastoma multiforme(28;0.128)	25	3496	+			1035					A5D8U7|A7E2Y0|B9EGP5|F8VWA6|F8W1Z6|Q86TA2|Q8N3I5|Q8NAI0|Q8NHE2|Q9UPW1	Silent	SNP	ENST00000393632.2	37	c.3105G>A	CCDS31849.1																																																																																				0.453	MON2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406767.3	NM_015026		8	326	0	0	0	1	0	8	326					A	62946846	G	A	62946846	2	1	45	1	0	0	0	0	0	0	0	1	9700	1335	47	3		3	MON2	12	62946846	Silent	SNP	G	TCGA-EJ-5495-01A-01D-1576-08	13502974	62946846	70905049	52	2438											
HELB	92797	broad.mit.edu	37	chr12	66725338	66725338	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttatcttcacctgatggagtAgatacagatgatgatttacc	12	14	8	7	0	2	5	1	3	1	2	2	6	2	6	2	1	2	1	2	1	4	6			TCGA-EJ-5495-01A-01D-1576-08	TCGA-EJ-5495-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a06cd9-5e37-41b7-954f-173a2ab44179	695fd2d7-9426-45e1-81f0-79fbdf6ba0bf	g.chr12:66725338A>G	ENST00000247815.4	+	12	3134	c.3075A>G	c.(3073-3075)gtA>gtG	p.V1025V		NM_033647.3	NP_387467.2	Q8NG08	HELB_HUMAN	helicase (DNA) B	1025					DNA duplex unwinding (GO:0032508)|DNA replication (GO:0006260)|DNA replication, synthesis of RNA primer (GO:0006269)		ATP binding (GO:0005524)|ATP-dependent 5'-3' DNA helicase activity (GO:0043141)|single-stranded DNA-dependent ATP-dependent DNA helicase activity (GO:0017116)	p.V1025V(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	40			GBM - Glioblastoma multiforme(2;0.000142)	GBM - Glioblastoma multiforme(28;0.0265)		CTGATGGAGTAGATACAGATG	0.438																																						ENST00000247815.4																			1	Substitution - coding silent(1)	p.V1025V(1)	prostate(1)	autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	40						c.(3073-3075)gtA>gtG		helicase (DNA) B							83	77	79					12																	66725338		2203	4300	6503	SO:0001819	synonymous_variant	92797				DNA replication, synthesis of RNA primer		ATP binding|ATP-dependent 5'-3' DNA helicase activity|single-stranded DNA-dependent ATP-dependent DNA helicase activity	g.chr12:66725338A>G	AF319995	CCDS8976.1	12q14.2	2009-01-15			ENSG00000127311	ENSG00000127311			17196	protein-coding gene	gene with protein product		614539				12181327	Standard	NM_033647		Approved		uc001sti.3	Q8NG08	OTTHUMG00000169006	ENST00000247815.4:c.3075A>G	12.37:g.66725338A>G							p.V1025V	NM_033647.3	NP_387467.2	Q8NG08	HELB_HUMAN	GBM - Glioblastoma multiforme(2;0.000142)	GBM - Glioblastoma multiforme(28;0.0265)	12	3134	+			1025					A8K4C9|Q4G0T2|Q9H7L5	Silent	SNP	ENST00000247815.4	37	c.3075A>G	CCDS8976.1																																																																																				0.438	HELB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401919.1			26	133	0	0	0	1	0	26	133					G	66725338	A	G	66725338	2	3	45	1	0	0	0	0	0	0	0	1	7045	407	15	4		4	HELB	12	66725338	Silent	SNP	A	TCGA-EJ-5495-01A-01D-1576-08	3778492	66725338	67126557	53	2439											
GRIP1	23426	broad.mit.edu	37	chr12	66765694	66765694	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcaaactcatcgtgctccccGacatgattgttgcctgtggc	7	12	9	13	2	2	1	2	1	0	0	4	2	3	1	3	1	3	2	3	1	1	2	rs200171461	byFrequency	TCGA-EJ-5495-01A-01D-1576-08	TCGA-EJ-5495-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a06cd9-5e37-41b7-954f-173a2ab44179	695fd2d7-9426-45e1-81f0-79fbdf6ba0bf	g.chr12:66765694G>A	ENST00000398016.3	-	22	2704	c.2636C>T	c.(2635-2637)tCg>tTg	p.S879L	GRIP1_ENST00000286445.7_Missense_Mutation_p.S916L|GRIP1_ENST00000359742.4_Missense_Mutation_p.S931L	NM_021150.3	NP_066973.2	Q96DT0	LEG12_HUMAN	glutamate receptor interacting protein 1	0					intrinsic apoptotic signaling pathway (GO:0097193)	nucleus (GO:0005634)	lactose binding (GO:0030395)	p.S879L(2)		NS(3)|breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(19)|ovary(2)|prostate(2)|skin(1)	50			GBM - Glioblastoma multiforme(2;0.00069)	GBM - Glioblastoma multiforme(28;0.0933)		CGTGCTCCCCGACATGATTGT	0.517													G|||	4	0.000798722	0	0	5008	,	,		19646	0.004		0	False		,,,				2504	0					ENST00000359742.4																			2	Substitution - Missense(2)	p.S879L(2)	large_intestine(1)|prostate(1)	NS(3)|breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(19)|ovary(2)|prostate(2)|skin(1)	50						c.(2791-2793)tCg>tTg		glutamate receptor interacting protein 1							46	50	49					12																	66765694		2000	4179	6179	SO:0001583	missense	23426				androgen receptor signaling pathway|intracellular signal transduction|positive regulation of transcription, DNA-dependent|synaptic transmission	cell junction|cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|postsynaptic membrane	androgen receptor binding|beta-catenin binding|protein C-terminus binding|receptor signaling complex scaffold activity|transcription coactivator activity	g.chr12:66765694G>A	AJ133439	CCDS41807.1	12q13.13	2008-05-02			ENSG00000155974	ENSG00000155974			18708	protein-coding gene	gene with protein product		604597				10197531	Standard	NM_021150		Approved		uc001stk.3	Q9Y3R0	OTTHUMG00000169019	ENST00000398016.3:c.2636C>T	12.37:g.66765694G>A	ENSP00000381098:p.Ser879Leu					GRIP1_ENST00000398016.3_Missense_Mutation_p.S879L|GRIP1_ENST00000286445.7_Missense_Mutation_p.S916L	p.S931L			Q9Y3R0	GRIP1_HUMAN	GBM - Glioblastoma multiforme(2;0.00069)	GBM - Glioblastoma multiforme(28;0.0933)	23	3032	-			931					B2R9N2|G5E970|Q96DS9|Q96PR9|Q9H258|Q9H259|Q9NZ02	Missense_Mutation	SNP	ENST00000398016.3	37	c.2792C>T	CCDS41807.1	1|1	4.578754578754579E-4|4.578754578754579E-4	0|0	0.0|0.0	0|0	0.0|0.0	1|1	0.0017482517482517483|0.0017482517482517483	0|0	0.0|0.0	G|G	15.69|15.69	2.909021|2.909021	0.52439|0.52439	.|.	.|.	ENSG00000155974|ENSG00000155974	ENST00000538164|ENST00000398016;ENST00000359742;ENST00000286445;ENST00000538211;ENST00000540433;ENST00000536215	.|T;T;T;T;T;T	.|0.78595	.|-1.19;-1.19;-1.19;-1.19;-1.19;-1.19	6.07|6.07	5.01|5.01	0.66863|0.66863	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.72526|0.72526	0.3471|0.3471	M|M	0.62723|0.62723	1.935|1.935	0.50632|0.50632	D|D	0.999889|0.999889	.|B;B;B;B	.|0.32829	.|0.103;0.386;0.147;0.169	.|B;B;B;B	.|0.22753	.|0.012;0.018;0.021;0.041	T|T	0.70868|0.70868	-0.4755|-0.4755	5|9	.|.	.|.	.|.	-8.9826|-8.9826	16.2806|16.2806	0.82678|0.82678	0.073:0.0:0.927:0.0|0.073:0.0:0.927:0.0	.|.	.|864;931;879;916	.|F5H4N6;Q9Y3R0;Q9Y3R0-3;Q9Y3R0-2	.|.;GRIP1_HUMAN;.;.	W|L	731|879;931;916;864;823;756	.|ENSP00000381098:S879L;ENSP00000352780:S931L;ENSP00000286445:S916L;ENSP00000446047:S864L;ENSP00000446024:S823L;ENSP00000446011:S756L	.|.	R|S	-|-	1|2	2|0	GRIP1|GRIP1	65051961|65051961	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.930000|0.930000	0.56654|0.56654	7.442000|7.442000	0.80503|0.80503	2.885000|2.885000	0.99019|0.99019	0.655000|0.655000	0.94253|0.94253	CGG|TCG		0.517	GRIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401975.2			24	110	0	0	0	1	0	24	110					A	66765694	G	A	66765694	3	1	45	1	0	0	0	0	1	0	0	0	6787	1059	37	2	606	2	GRIP1	12	66765694	Missense_Mutation	SNP	G	TCGA-EJ-5495-01A-01D-1576-08	40356	66765694	67086201	54	2440											
TBX5	6910	broad.mit.edu	37	chr12	114804033	114804033	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cagtgggtatgggttgggtgGaggcaggaggtcctgggagg	6	8	23	4	0	0	0	0	0	0	0	1	3	1	3	1	9	0	3	1	9	1	2			TCGA-EJ-5495-01A-01D-1576-08	TCGA-EJ-5495-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a06cd9-5e37-41b7-954f-173a2ab44179	695fd2d7-9426-45e1-81f0-79fbdf6ba0bf	g.chr12:114804033G>T	ENST00000310346.4	-	8	1585	c.919C>A	c.(919-921)Cca>Aca	p.P307T	TBX5_ENST00000405440.2_Missense_Mutation_p.P307T|TBX5_ENST00000526441.1_Missense_Mutation_p.P307T|TBX5_ENST00000349716.5_Missense_Mutation_p.P257T	NM_000192.3	NP_000183.2	Q99593	TBX5_HUMAN	T-box 5	307					apoptotic nuclear changes (GO:0030262)|atrial septum morphogenesis (GO:0060413)|atrioventricular valve morphogenesis (GO:0003181)|bundle of His development (GO:0003166)|cardiac left ventricle formation (GO:0003218)|cardiac muscle cell differentiation (GO:0055007)|cell migration involved in coronary vasculogenesis (GO:0060980)|cell-cell signaling (GO:0007267)|embryonic forelimb morphogenesis (GO:0035115)|embryonic limb morphogenesis (GO:0030326)|endocardial cushion development (GO:0003197)|forelimb morphogenesis (GO:0035136)|gene expression (GO:0010467)|heart development (GO:0007507)|lung development (GO:0030324)|morphogenesis of an epithelium (GO:0002009)|negative regulation of cardiac muscle cell proliferation (GO:0060044)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|pattern specification process (GO:0007389)|pericardium development (GO:0060039)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cardioblast differentiation (GO:0051891)|positive regulation of secondary heart field cardioblast proliferation (GO:0072513)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of execution phase of apoptosis (GO:1900117)|transcription initiation from RNA polymerase II promoter (GO:0006367)|ventricular cardiac muscle tissue development (GO:0003229)|ventricular septum development (GO:0003281)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)	p.P307T(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(29)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0893)		GGGTTGGGTGGAGGCAGGAGG	0.532																																					NSCLC(152;1358 1980 4050 23898 40356)	ENST00000310346.4																			1	Substitution - Missense(1)	p.P307T(1)	prostate(1)	endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(29)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	56						c.(919-921)Cca>Aca		T-box 5							113	102	106					12																	114804033		2203	4300	6503	SO:0001583	missense	6910				cardiac left ventricle formation|cell migration involved in coronary vasculogenesis|cell-cell signaling|embryonic arm morphogenesis|induction of apoptosis|negative regulation of cardiac muscle cell proliferation|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|pericardium development|positive regulation of cardioblast differentiation|positive regulation of transcription from RNA polymerase II promoter|ventricular septum development	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding	g.chr12:114804033G>T	U89353	CCDS9173.1, CCDS9174.1	12q24.1	2014-09-17			ENSG00000089225	ENSG00000089225		"T-boxes"	11604	protein-coding gene	gene with protein product		601620		HOS		8988165, 8054982	Standard	NM_000192		Approved		uc001tvo.4	Q99593	OTTHUMG00000166191	ENST00000310346.4:c.919C>A	12.37:g.114804033G>T	ENSP00000309913:p.Pro307Thr					TBX5_ENST00000405440.2_Missense_Mutation_p.P307T|TBX5_ENST00000526441.1_Missense_Mutation_p.P307T|TBX5_ENST00000349716.5_Missense_Mutation_p.P257T	p.P307T	NM_000192.3	NP_000183.2	Q99593	TBX5_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.0893)	8	1585	-	Medulloblastoma(191;0.163)|all_neural(191;0.178)		307					A6ND77|O15301|Q96TB0|Q9Y4I2	Missense_Mutation	SNP	ENST00000310346.4	37	c.919C>A	CCDS9173.1	.	.	.	.	.	.	.	.	.	.	G	14.75	2.627703	0.46944	.	.	ENSG00000089225	ENST00000349716;ENST00000310346;ENST00000448888;ENST00000405440;ENST00000526441	T;T;T;D	0.87412	0.95;0.95;0.95;-2.25	5.62	4.67	0.58626	.	0.119732	0.64402	D	0.000016	T	0.79476	0.4452	N	0.25426	0.745	0.39058	D	0.960473	B;B	0.09022	0.0;0.002	B;B	0.12837	0.008;0.003	T	0.75337	-0.3353	10	0.36615	T	0.2	.	13.2109	0.59822	0.0:0.0:0.7212:0.2787	.	307;307	Q99593-2;Q99593	.;TBX5_HUMAN	T	257;307;204;307;307	ENSP00000337723:P257T;ENSP00000309913:P307T;ENSP00000384152:P307T;ENSP00000433292:P307T	ENSP00000309913:P307T	P	-	1	0	TBX5	113288416	1.000000	0.71417	0.999000	0.59377	0.980000	0.70556	6.212000	0.72188	2.662000	0.90505	0.655000	0.94253	CCA		0.532	TBX5-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388297.1	NM_080717		25	109	1	0	2.21704e-12	1	2.70267e-12	25	109					T	114804033	G	T	114804033	3	4	45	1	0	0	0	0	1	0	0	0	15658	1174	41	5	712	5	TBX5	12	114804033	Missense_Mutation	SNP	G	TCGA-EJ-5495-01A-01D-1576-08	48038339	114804033	19047862	55	2441											
XPO4	64328	broad.mit.edu	37	chr13	21417991	21417991	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgaacttgaaaattcactcAatagcgcagtcagaatagaa	17	10	7	7	1	3	4	3	2	0	2	3	4	3	4	0	0	2	1	0	0	8	5			TCGA-EJ-5495-01A-01D-1576-08	TCGA-EJ-5495-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a06cd9-5e37-41b7-954f-173a2ab44179	695fd2d7-9426-45e1-81f0-79fbdf6ba0bf	g.chr13:21417991A>C	ENST00000255305.6	-	5	562	c.491T>G	c.(490-492)tTg>tGg	p.L164W	XPO4_ENST00000400602.2_Missense_Mutation_p.L164W			Q9C0E2	XPO4_HUMAN	exportin 4	164					positive regulation of protein export from nucleus (GO:0046827)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.L137W(1)		breast(1)|endometrium(10)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	41		all_cancers(29;5.05e-24)|all_epithelial(30;5.56e-20)|all_lung(29;2.38e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)		all cancers(112;0.000521)|Epithelial(112;0.000892)|OV - Ovarian serous cystadenocarcinoma(117;0.0148)|Lung(94;0.0189)|LUSC - Lung squamous cell carcinoma(192;0.0548)		AAATTCACTCAATAGCGCAGT	0.348																																						ENST00000400602.2																			1	Substitution - Missense(1)	p.L137W(1)	prostate(1)	breast(1)|endometrium(10)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	41						c.(490-492)tTg>tGg		exportin 4							109	97	101					13																	21417991		1842	4084	5926	SO:0001583	missense	64328				protein transport	cytoplasm|nucleus	protein binding	g.chr13:21417991A>C	AB051508	CCDS41872.1	13q11	2011-04-13			ENSG00000132953	ENSG00000132953		"Exportins"	17796	protein-coding gene	gene with protein product		611449				11214970, 10944119	Standard	NM_022459		Approved	FLJ13046, KIAA1721	uc001unq.4	Q9C0E2	OTTHUMG00000016528	ENST00000255305.6:c.491T>G	13.37:g.21417991A>C	ENSP00000255305:p.Leu164Trp					XPO4_ENST00000255305.6_Missense_Mutation_p.L164W	p.L164W	NM_022459.4	NP_071904.4	Q9C0E2	XPO4_HUMAN		all cancers(112;0.000521)|Epithelial(112;0.000892)|OV - Ovarian serous cystadenocarcinoma(117;0.0148)|Lung(94;0.0189)|LUSC - Lung squamous cell carcinoma(192;0.0548)	5	526	-		all_cancers(29;5.05e-24)|all_epithelial(30;5.56e-20)|all_lung(29;2.38e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)	164					Q5VUZ5|Q8N3V6|Q9H934	Missense_Mutation	SNP	ENST00000255305.6	37	c.491T>G	CCDS41872.1	.	.	.	.	.	.	.	.	.	.	A	24.0	4.479171	0.84747	.	.	ENSG00000132953	ENST00000400602;ENST00000456108;ENST00000255305	T;T	0.69040	-0.37;-0.37	6.17	6.17	0.99709	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.80839	0.4700	M	0.65498	2.005	0.58432	D	0.999998	D	0.89917	1.0	D	0.74023	0.982	T	0.82388	-0.0482	10	0.87932	D	0	-4.2327	16.8222	0.85835	1.0:0.0:0.0:0.0	.	164	Q9C0E2	XPO4_HUMAN	W	164;34;164	ENSP00000383444:L164W;ENSP00000255305:L164W	ENSP00000255305:L164W	L	-	2	0	XPO4	20315991	1.000000	0.71417	0.996000	0.52242	0.989000	0.77384	8.962000	0.93254	2.371000	0.80710	0.533000	0.62120	TTG		0.348	XPO4-001	KNOWN	non_canonical_conserved|non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000044096.1	NM_022459		32	165	0	0	0	1	0	32	165					C	21417991	A	C	21417991	3	2	45	1	0	0	0	0	1	0	0	0	17443	131	5	5	3040	5	XPO4	13	21417991	Missense_Mutation	SNP	A	TCGA-EJ-5495-01A-01D-1576-08		21417991	93751887	56	2442											
BRCA2	675	broad.mit.edu	37	chr13	32910661	32910662	+	Frame_Shift_Ins	INS	-	-	A																															gtgaaaatgatccaaaaagcINSaaaaaagtttcagatataaa																								rs276174819		TCGA-EJ-5495-01A-01D-1576-08	TCGA-EJ-5495-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a06cd9-5e37-41b7-954f-173a2ab44179	695fd2d7-9426-45e1-81f0-79fbdf6ba0bf	g.chr13:32910661_32910662insA	ENST00000380152.3	+	11	2402_2403	c.2169_2170insA	c.(2170-2172)aaafs	p.K724fs	BRCA2_ENST00000544455.1_Frame_Shift_Ins_p.K724fs			P51587	BRCA2_HUMAN	breast cancer 2, early onset	724	Interaction with NPM1.				brain development (GO:0007420)|cell aging (GO:0007569)|centrosome duplication (GO:0051298)|cytokinesis (GO:0000910)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|female gonad development (GO:0008585)|hemopoiesis (GO:0030097)|histone H3 acetylation (GO:0043966)|histone H4 acetylation (GO:0043967)|inner cell mass cell proliferation (GO:0001833)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|male meiosis I (GO:0007141)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|nucleotide-excision repair (GO:0006289)|oocyte maturation (GO:0001556)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cytokinesis (GO:0032465)|replication fork protection (GO:0048478)|response to gamma radiation (GO:0010332)|response to UV-C (GO:0010225)|response to X-ray (GO:0010165)|spermatogenesis (GO:0007283)	BRCA2-MAGE-D1 complex (GO:0033593)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)|secretory granule (GO:0030141)	gamma-tubulin binding (GO:0043015)|H3 histone acetyltransferase activity (GO:0010484)|H4 histone acetyltransferase activity (GO:0010485)|protease binding (GO:0002020)|single-stranded DNA binding (GO:0003697)			NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		ATCCAAAAAGCAAAAAAGTTTC	0.376			"D, Mis, N, F, S"		"breast, ovarian, pancreatic"	"breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)																											Esophageal Squamous(138;838 1285 7957 30353 30468 36915 49332)	ENST00000544455.1			yes	Rec	yes	Hereditary breast/ovarian cancer	13	13q12	675	"D, Mis, N, F, S"	familial breast/ovarian cancer gene 2			"L, E"		"breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"	"breast, ovarian, pancreatic"		0				NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183						c.(2167-2172)agaaaafs	Homologous recombination	breast cancer 2, early onset																																				SO:0001589	frameshift_variant	675	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	Familial Cancer Database	incl.: Hereditary Pancreatic Adenocarcinoma, Insulin-Dependent Diabetes Mellitus - Exocrine Insufficiency - Familial Pancreatic Cancer, PNCA1;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;HPC; ;FANCD1;Pancytopenia Dysmelia, FA (several complementation groups)	cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding	g.chr13:32910661_32910662insA	U43746	CCDS9344.1	13q12-q13	2014-09-17	2003-10-14		ENSG00000139618	ENSG00000139618		"Fanconi anemia, complementation groups"	1101	protein-coding gene	gene with protein product	"BRCA1/BRCA2-containing complex, subunit 2"	600185	"Fanconi anemia, complementation group D1"	FANCD1, FACD, FANCD		8091231, 7581463, 15057823	Standard	NM_000059		Approved	FAD, FAD1, BRCC2	uc001uub.1	P51587	OTTHUMG00000017411	ENST00000380152.3:c.2175dupA	13.37:g.32910667_32910667dupA	ENSP00000369497:p.Lys724fs	TCGA Ovarian(8;0.087)				BRCA2_ENST00000380152.3_Frame_Shift_Ins_p.RK723fs	p.RK723fs	NM_000059.3	NP_000050.2	P51587	BRCA2_HUMAN		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)	11	2396_2397	+		Lung SC(185;0.0262)	723			Interaction with NPM1.		O00183|O15008|Q13879|Q5TBJ7	Frame_Shift_Ins	INS	ENST00000380152.3	37	c.2169_2170insA	CCDS9344.1																																																																																				0.376	BRCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046000.2	NM_000059		25	87						25	87	---	---	---	---	A	32910662	-	A	32910661	7	5	45	1	0	1	1	0	0	0	0	0	1499	709	25	0	2207	0	BRCA2	13	32910661	Frame_Shift_Ins	INS	-	TCGA-EJ-5495-01A-01D-1576-08	11492670	32910661	82259217	57	2443											
C14orf166B	145497	broad.mit.edu	37	chr14	77302633	77302633	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agcctggtggagatgctacaAgagaactactacctccagga	13	7	11	10	0	0	2	0	0	0	2	1	5	1	3	3	3	6	1	3	3	5	3			TCGA-EJ-5495-01A-01D-1576-08	TCGA-EJ-5495-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a06cd9-5e37-41b7-954f-173a2ab44179	695fd2d7-9426-45e1-81f0-79fbdf6ba0bf	g.chr14:77302633A>T	ENST00000393774.3	+	4	598	c.474A>T	c.(472-474)caA>caT	p.Q158H	C14orf166B_ENST00000460005.1_3'UTR|C14orf166B_ENST00000450042.2_Missense_Mutation_p.Q141H	NM_194287.2	NP_919263.2												p.Q158H(1)		breast(1)|kidney(2)|large_intestine(3)|lung(9)|prostate(2)|skin(1)	18			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0306)		AGATGCTACAAGAGAACTACT	0.552																																					Ovarian(165;1056 1958 32571 36789 48728)	ENST00000393774.3																			1	Substitution - Missense(1)	p.Q158H(1)	prostate(1)	breast(1)|kidney(2)|large_intestine(3)|lung(9)|prostate(2)|skin(1)	18						c.(472-474)caA>caT		chromosome 14 open reading frame 166B							164	119	134					14																	77302633		2203	4300	6503	SO:0001583	missense	145497							g.chr14:77302633A>T																												ENST00000393774.3:c.474A>T	14.37:g.77302633A>T	ENSP00000377369:p.Gln158His					C14orf166B_ENST00000450042.2_Missense_Mutation_p.Q141H|C14orf166B_ENST00000460005.1_3'UTR	p.Q158H	NM_194287.2	NP_919263.2	Q0VAA2	CN16B_HUMAN	Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0306)	4	598	+			158						Missense_Mutation	SNP	ENST00000393774.3	37	c.474A>T	CCDS9853.2	.	.	.	.	.	.	.	.	.	.	A	7.845	0.722792	0.15439	.	.	ENSG00000100565	ENST00000393774;ENST00000450042	T;T	0.53857	0.6;2.23	5.76	-11.5	0.00074	.	0.569930	0.18553	N	0.137860	T	0.26011	0.0634	L	0.31476	0.935	0.80722	D	1	B	0.09022	0.002	B	0.04013	0.001	T	0.56288	-0.8004	10	0.49607	T	0.09	.	3.4169	0.07378	0.4241:0.0601:0.1472:0.3687	.	158	Q0VAA2	CN16B_HUMAN	H	158;141	ENSP00000377369:Q158H;ENSP00000396260:Q141H	ENSP00000216450:Q158H	Q	+	3	2	C14orf166B	76372386	0.007000	0.16637	0.000000	0.03702	0.910000	0.53928	-1.175000	0.03102	-4.375000	0.00053	-0.911000	0.02809	CAA		0.552	C14orf166B-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316592.1			8	20	0	0	0	1	0	8	20					T	77302633	A	T	77302633	3	4	45	1	0	0	0	0	1	0	0	0	1757	69	3	5	488	5	C14orf166B	14	77302633	Missense_Mutation	SNP	A	TCGA-EJ-5495-01A-01D-1576-08		77302633	30046907	58	2444											
DYNC1H1	1778	broad.mit.edu	37	chr14	102505453	102505453	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accactctggagaacctgaaGagagaggctgcagaggtcac	13	5	13	10	0	2	5	1	1	1	4	2	7	2	5	2	3	2	2	2	3	2	0			TCGA-EJ-5495-01A-01D-1576-08	TCGA-EJ-5495-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a06cd9-5e37-41b7-954f-173a2ab44179	695fd2d7-9426-45e1-81f0-79fbdf6ba0bf	g.chr14:102505453G>T	ENST00000360184.4	+	60	11486	c.11322G>T	c.(11320-11322)aaG>aaT	p.K3774N	RP11-1017G21.4_ENST00000553701.1_RNA|RP11-1017G21.4_ENST00000557551.1_RNA|RP11-1017G21.4_ENST00000557242.1_RNA	NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	3774	AAA 5. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|cytoplasmic mRNA processing body assembly (GO:0033962)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic spindle organization (GO:0007052)|stress granule assembly (GO:0034063)|transport (GO:0006810)	centrosome (GO:0005813)|cytoplasmic dynein complex (GO:0005868)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|poly(A) RNA binding (GO:0044822)	p.K3774N(1)		NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						AGAACCTGAAGAGAGAGGCTG	0.537																																						ENST00000360184.4																			1	Substitution - Missense(1)	p.K3774N(1)	prostate(1)	NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						c.(11320-11322)aaG>aaT		dynein, cytoplasmic 1, heavy chain 1							89	83	85					14																	102505453		2203	4300	6503	SO:0001583	missense	1778				cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding	g.chr14:102505453G>T	AB002323	CCDS9966.1	14q32.31	2006-12-21	2005-11-24	2005-11-24		ENSG00000197102		"Cytoplasmic dyneins"	2961	protein-coding gene	gene with protein product		600112	"dynein, cytoplasmic, heavy polypeptide 1"	DNECL, DNCL, DNCH1		16260502, 8666668	Standard	NM_001376		Approved	Dnchc1, HL-3, p22, DHC1	uc001yks.2	Q14204		ENST00000360184.4:c.11322G>T	14.37:g.102505453G>T	ENSP00000348965:p.Lys3774Asn					RP11-1017G21.4_ENST00000557551.1_RNA|RP11-1017G21.4_ENST00000557242.1_RNA|RP11-1017G21.4_ENST00000553701.1_RNA	p.K3774N	NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN			60	11486	+			3774			AAA 5 (By similarity).		B0I1R0|Q6DKQ7|Q8WU28|Q92814|Q9Y4G5	Missense_Mutation	SNP	ENST00000360184.4	37	c.11322G>T	CCDS9966.1	.	.	.	.	.	.	.	.	.	.	G	35	5.590016	0.96590	.	.	ENSG00000197102	ENST00000360184	T	0.68181	-0.31	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	D	0.88987	0.6587	H	0.96777	3.88	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.91727	0.5393	10	0.87932	D	0	.	20.3437	0.98782	0.0:0.0:1.0:0.0	.	3774	Q14204	DYHC1_HUMAN	N	3774	ENSP00000348965:K3774N	ENSP00000348965:K3774N	K	+	3	2	DYNC1H1	101575206	1.000000	0.71417	0.987000	0.45799	0.996000	0.88848	7.974000	0.88039	2.815000	0.96918	0.561000	0.74099	AAG		0.537	DYNC1H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414574.1	NM_001376		21	130	1	0	2.12542e-12	1	2.6159e-12	21	130					T	102505453	G	T	102505453	3	4	45	1	0	0	0	0	1	0	0	0	4841	933	33	5	11560	5	DYNC1H1	14	102505453	Missense_Mutation	SNP	G	TCGA-EJ-5495-01A-01D-1576-08	25202820	102505453	4844087	59	2445											
OR4M2	390538	broad.mit.edu	37	chr15	22369362	22369362	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ccatctacatttatgctcgcCcatttgactcgttttcccta	7	16	4	14	2	1	1	0	1	1	0	4	1	2	1	3	0	2	2	3	0	3	7			TCGA-EJ-5495-01A-01D-1576-08	TCGA-EJ-5495-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a06cd9-5e37-41b7-954f-173a2ab44179	695fd2d7-9426-45e1-81f0-79fbdf6ba0bf	g.chr15:22369362C>A	ENST00000332663.2	+	1	885	c.787C>A	c.(787-789)Cca>Aca	p.P263T	RP11-69H14.6_ENST00000558896.1_RNA	NM_001004719.2	NP_001004719.2	Q8NGB6	OR4M2_HUMAN	olfactory receptor, family 4, subfamily M, member 2	263						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.P263T(1)		NS(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(38)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	63		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		TTATGCTCGCCCATTTGACTC	0.418																																						ENST00000332663.2																			1	Substitution - Missense(1)	p.P263T(1)	prostate(1)	NS(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(38)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	63						c.(787-789)Cca>Aca		olfactory receptor, family 4, subfamily M, member 2							309	231	257					15																	22369362		2203	4300	6503	SO:0001583	missense	390538				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr15:22369362C>A	AC060768	CCDS32172.1	15q11.2	2013-09-23			ENSG00000182974	ENSG00000182974		"GPCR / Class A : Olfactory receptors"	15373	protein-coding gene	gene with protein product							Standard	NM_001004719		Approved		uc010tzu.2	Q8NGB6	OTTHUMG00000171738	ENST00000332663.2:c.787C>A	15.37:g.22369362C>A	ENSP00000329467:p.Pro263Thr					RP11-69H14.6_ENST00000558896.1_RNA	p.P263T	NM_001004719.2	NP_001004719.2	Q8NGB6	OR4M2_HUMAN	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)	1	885	+		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	263					B9EH16|Q6IEY2	Missense_Mutation	SNP	ENST00000332663.2	37	c.787C>A	CCDS32172.1	.	.	.	.	.	.	.	.	.	.	.	12.51	1.959070	0.34565	.	.	ENSG00000182974	ENST00000332663	T	0.00274	8.35	2.28	2.28	0.28536	GPCR, rhodopsin-like superfamily (1);	0.000000	0.49305	D	0.000150	T	0.00875	0.0029	H	0.94886	3.595	0.09310	N	1	D	0.89917	1.0	D	0.97110	1.0	T	0.14615	-1.0466	10	0.87932	D	0	-9.8614	10.3191	0.43756	0.0:1.0:0.0:0.0	.	263	Q8NGB6	OR4M2_HUMAN	T	263	ENSP00000329467:P263T	ENSP00000329467:P263T	P	+	1	0	OR4M2	19870726	0.872000	0.30054	0.997000	0.53966	0.856000	0.48823	4.728000	0.62000	1.297000	0.44761	0.448000	0.29417	CCA		0.418	OR4M2-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414921.1			39	616	1	0	1.49673e-21	1	1.93517e-21	39	616					A	22369362	C	A	22369362	3	1	45	1	0	0	0	0	1	0	0	0	11076	623	22	5	789	5	OR4M2	15	22369362	Missense_Mutation	SNP	C	TCGA-EJ-5495-01A-01D-1576-08		22369362	80162030	60	2446											
RAB11A	8766	broad.mit.edu	37	chr15	66169865	66169865	+	Splice_Site	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atatcgagctataacatcagCgtaagtctcatggtttttaa	13	14	7	7	2	2	0	2	0	1	0	4	1	2	0	0	1	3	3	0	1	5	7			TCGA-EJ-5495-01A-01D-1576-08	TCGA-EJ-5495-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a06cd9-5e37-41b7-954f-173a2ab44179	695fd2d7-9426-45e1-81f0-79fbdf6ba0bf	g.chr15:66169865C>A	ENST00000261890.2	+	2	364	c.236C>A	c.(235-237)gCa>gAa	p.A79E	RAB11A_ENST00000569896.1_Splice_Site_p.A79E|RAB11A_ENST00000564910.1_Intron|RAB11A_ENST00000565075.1_Splice_Site_p.A79E|RAB11A_ENST00000435304.2_Splice_Site_p.A79E	NM_001206836.1|NM_004663.4	NP_001193765.1|NP_004654.1	P62491	RB11A_HUMAN	RAB11A, member RAS oncogene family	79					cytokinesis (GO:0000910)|establishment of protein localization to membrane (GO:0090150)|exosomal secretion (GO:1990182)|GTP catabolic process (GO:0006184)|melanosome transport (GO:0032402)|multivesicular body assembly (GO:0036258)|neuron projection development (GO:0031175)|plasma membrane to endosome transport (GO:0048227)|positive regulation of axon extension (GO:0045773)|protein localization to plasma membrane (GO:0072659)|protein transport (GO:0015031)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of multivesicular body size (GO:0010796)|regulation of protein transport (GO:0051223)|small GTPase mediated signal transduction (GO:0007264)|transmembrane transport (GO:0055085)|vesicle-mediated transport (GO:0016192)|water transport (GO:0006833)	axon (GO:0030424)|cleavage furrow (GO:0032154)|cytoplasmic vesicle membrane (GO:0030659)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|multivesicular body (GO:0005771)|perinuclear region of cytoplasm (GO:0048471)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802)|transport vesicle (GO:0030133)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|myosin V binding (GO:0031489)|syntaxin binding (GO:0019905)	p.A79E(1)		kidney(1)|large_intestine(2)|lung(1)|prostate(1)	5						ATAACATCAGCGTAAGTCTCA	0.393																																						ENST00000261890.2																			1	Substitution - Missense(1)	p.A79E(1)	prostate(1)	kidney(1)|large_intestine(2)|lung(1)|prostate(1)	5						c.e2+1		RAB11A, member RAS oncogene family							98	100	99					15																	66169865		2201	4299	6500	SO:0001630	splice_region_variant	8766				cell cycle|cytokinesis|neuron projection development|plasma membrane to endosome transport|protein localization in plasma membrane|small GTPase mediated signal transduction|vesicle-mediated transport	cleavage furrow|plasma membrane|recycling endosome membrane|trans-Golgi network	GTP binding|GTPase activity|syntaxin binding	g.chr15:66169865C>A	X56740	CCDS10212.1, CCDS58373.1	15q22.31	2008-05-14			ENSG00000103769	ENSG00000103769		"RAB, member RAS oncogene"	9760	protein-coding gene	gene with protein product		605570				1704119, 9662449	Standard	NM_004663		Approved	YL8	uc002apk.3	P62491	OTTHUMG00000133162	ENST00000261890.2:c.236+1C>A	15.37:g.66169865C>A						RAB11A_ENST00000565075.1_Splice_Site_p.A79_splice|RAB11A_ENST00000569896.1_Splice_Site_p.A79_splice|RAB11A_ENST00000564910.1_Intron|RAB11A_ENST00000435304.2_Splice_Site_p.A79_splice	p.A79_splice	NM_001206836.1|NM_004663.4	NP_001193765.1|NP_004654.1	P62491	RB11A_HUMAN			2	364	+			79					B2R4B6|B4DT13|P24410|Q5TZN9|Q9JLX1	Splice_Site	SNP	ENST00000261890.2	37	c.236_splice	CCDS10212.1	.	.	.	.	.	.	.	.	.	.	C	31	5.082401	0.94050	.	.	ENSG00000103769	ENST00000261890;ENST00000435304	T;T	0.79940	-1.32;-1.32	5.21	5.21	0.72293	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.89044	0.6603	M	0.68593	2.085	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.81914	0.995;0.988	D	0.90085	0.4173	10	0.87932	D	0	.	18.7735	0.91901	0.0:1.0:0.0:0.0	.	79;79	B4DT13;P62491	.;RB11A_HUMAN	E	79	ENSP00000261890:A79E;ENSP00000405767:A79E	ENSP00000261890:A79E	A	+	2	0	RAB11A	63956919	1.000000	0.71417	1.000000	0.80357	0.929000	0.56500	7.818000	0.86416	2.426000	0.82243	0.655000	0.94253	GCA		0.393	RAB11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256864.1		Missense_Mutation	4	69	1	0	0.150653	1	0.155513	4	69					A	66169865	C	A	66169865	5	1	45	1	0	0	0	0	0	0	1	0	12891	782	27	5	242	5	RAB11A	15	66169865	Splice_Site	SNP	C	TCGA-EJ-5495-01A-01D-1576-08	43800503	66169865	36361527	61	2447											
SGK269	79834	broad.mit.edu	37	chr15	77407550	77407566	+	Frame_Shift_Del	DEL	CAGCAAGGAAATGACCA	CAGCAAGGAAATGACCA	-																															aagcagacggttagggacttCagcaaggaaatgaccacagt																								rs377371339		TCGA-EJ-5495-01A-01D-1576-08	TCGA-EJ-5495-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a06cd9-5e37-41b7-954f-173a2ab44179	695fd2d7-9426-45e1-81f0-79fbdf6ba0bf	g.chr15:77407550_77407566delCAGCAAGGAAATGACCA	ENST00000560626.2	-	7	4648_4664	c.4173_4189delTGGTCATTTCCTTGCTG	c.(4171-4191)tgtggtcatttccttgctgaafs	p.CGHFLAE1391fs	PEAK1_ENST00000312493.4_Frame_Shift_Del_p.CGHFLAE1391fs			Q9H792	PEAK1_HUMAN	pseudopodium-enriched atypical kinase 1	1391	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell migration (GO:0016477)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein autophosphorylation (GO:0046777)|substrate adhesion-dependent cell spreading (GO:0034446)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)										TTAGGGACTTCAGCAAGGAAATGACCACAGTCCTGCT	0.479																																						ENST00000560626.2																			0											c.(4171-4191)tgaafs		pseudopodium-enriched atypical kinase 1																																				SO:0001589	frameshift_variant	79834				cell migration|protein autophosphorylation|substrate adhesion-dependent cell spreading	actin cytoskeleton|cytoplasm|focal adhesion	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding	g.chr15:77407550_77407566delCAGCAAGGAAATGACCA		CCDS42062.1	15q24.3	2013-09-27			ENSG00000173517	ENSG00000173517			29431	protein-coding gene	gene with protein product		614248				16879967, 20534451	Standard	NM_024776		Approved	KIAA2002, sgk269		Q9H792	OTTHUMG00000172618	ENST00000560626.2:c.4173_4189delTGGTCATTTCCTTGCTG	15.37:g.77407550_77407566delCAGCAAGGAAATGACCA	ENSP00000452796:p.Cys1391fs					PEAK1_ENST00000312493.4_Frame_Shift_Del_p.CGHFLAE1391fs	p.CGHFLAE1391fs			Q9H792	PEAK1_HUMAN			7	4648_4664	-			1391			Protein kinase.		Q6ZS78|Q8NAZ4|Q8NCM3|Q8TEG7	Frame_Shift_Del	DEL	ENST00000560626.2	37	c.4173_4189delTGGTCATTTCCTTGCTG	CCDS42062.1																																																																																				0.479	PEAK1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419483.3			16	218						16	218	---	---	---	---	-	77407566	CAGCAAGGAAATGACCA	-	77407550	7	5	45	1	0	1	0	1	0	0	0	0	14211	835	29	0	1055	0	SGK269	15	77407550	Frame_Shift_Del	DEL	CAGCAAGGAAATGACCA	TCGA-EJ-5495-01A-01D-1576-08	11237685	77407550	25123842	62	2448											
GPR139	124274	broad.mit.edu	37	chr16	20043984	20043984	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagaggatgatcactgtcaaGatatttgctgtggagagaag	13	10	14	4	0	2	4	2	1	0	3	2	8	2	6	0	2	1	1	0	2	3	2			TCGA-EJ-5495-01A-01D-1576-08	TCGA-EJ-5495-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a06cd9-5e37-41b7-954f-173a2ab44179	695fd2d7-9426-45e1-81f0-79fbdf6ba0bf	g.chr16:20043984G>T	ENST00000570682.1	-	2	435	c.135C>A	c.(133-135)atC>atA	p.I45I		NM_001002911.2	NP_001002911.1	Q6DWJ6	GP139_HUMAN	G protein-coupled receptor 139	45					G-protein coupled receptor signaling pathway (GO:0007186)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	neuropeptide receptor activity (GO:0008188)	p.I45I(1)		autonomic_ganglia(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	30						TCACTGTCAAGATATTTGCTG	0.478																																						ENST00000570682.1																			1	Substitution - coding silent(1)	p.I45I(1)	prostate(1)	autonomic_ganglia(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	30						c.(133-135)atC>atA		G protein-coupled receptor 139							42	44	43					16																	20043984		2203	4300	6503	SO:0001819	synonymous_variant	124274					integral to membrane|plasma membrane		g.chr16:20043984G>T	AY255545	CCDS32398.1	16p13.11	2012-08-21						"GPCR / Class A : Orphans"	19995	protein-coding gene	gene with protein product						12679517	Standard	XM_005255114		Approved	PGR3	uc002dgu.1	Q6DWJ6		ENST00000570682.1:c.135C>A	16.37:g.20043984G>T							p.I45I	NM_001002911.2	NP_001002911.1	Q6DWJ6	GP139_HUMAN			2	435	-			45					A8K5R9|Q86SP2|Q8TDU8	Silent	SNP	ENST00000570682.1	37	c.135C>A	CCDS32398.1																																																																																				0.478	GPR139-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438522.1	NM_001002911		4	48	1	0	0.00024832	1	0.000274008	4	48					T	20043984	G	T	20043984	2	4	45	1	0	0	0	0	0	0	0	1	6648	932	33	5		5	GPR139	16	20043984	Silent	SNP	G	TCGA-EJ-5495-01A-01D-1576-08		20043984	70310769	63	2449											
GSG1L	146395	broad.mit.edu	37	chr16	27802719	27802719	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtgccccaagacccagcacTgtcggttcagctctggtgct	7	9	11	14	1	2	1	1	0	1	1	3	1	2	1	3	2	4	4	3	2	1	1			TCGA-EJ-5495-01A-01D-1576-08	TCGA-EJ-5495-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a06cd9-5e37-41b7-954f-173a2ab44179	695fd2d7-9426-45e1-81f0-79fbdf6ba0bf	g.chr16:27802719T>G	ENST00000447459.2	-	7	1052	c.968A>C	c.(967-969)cAg>cCg	p.Q323P	GSG1L_ENST00000395724.3_Missense_Mutation_p.Q272P|GSG1L_ENST00000380897.3_Missense_Mutation_p.Q168P|GSG1L_ENST00000569166.1_Missense_Mutation_p.Q186P|GSG1L_ENST00000380898.2_Missense_Mutation_p.Q186P	NM_001109763.1	NP_001103233.1	Q6UXU4	GSG1L_HUMAN	GSG1-like	323					regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)	asymmetric synapse (GO:0032279)|cell junction (GO:0030054)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.Q168P(1)|p.Q323P(1)		endometrium(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(4)	17						GACCCAGCACTGTCGGTTCAG	0.642																																						ENST00000380898.2																			2	Substitution - Missense(2)	p.Q168P(1)|p.Q323P(1)	prostate(2)	endometrium(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(4)	17						c.(556-558)cAg>cCg		GSG1-like							78	66	70					16																	27802719		2197	4300	6497	SO:0001583	missense	146395					integral to membrane		g.chr16:27802719T>G	AK128775	CCDS10631.1, CCDS45450.1	16p11.2	2014-01-20			ENSG00000169181	ENSG00000169181			28283	protein-coding gene	gene with protein product						22813734	Standard	NM_001109763		Approved	MGC18079, PRO19651, KTSR5831	uc002doz.2	Q6UXU4	OTTHUMG00000131676	ENST00000447459.2:c.968A>C	16.37:g.27802719T>G	ENSP00000394954:p.Gln323Pro					GSG1L_ENST00000569166.1_Missense_Mutation_p.Q186P|GSG1L_ENST00000380897.3_Missense_Mutation_p.Q168P|GSG1L_ENST00000395724.3_Missense_Mutation_p.Q272P|GSG1L_ENST00000447459.2_Missense_Mutation_p.Q323P	p.Q186P			Q6UXU4	GSG1L_HUMAN			8	1106	-			323					Q7Z6F8|Q8TB81	Missense_Mutation	SNP	ENST00000447459.2	37	c.557A>C	CCDS45450.1	.	.	.	.	.	.	.	.	.	.	T	13.21	2.168556	0.38315	.	.	ENSG00000169181	ENST00000447459;ENST00000395724;ENST00000380898;ENST00000380897	T;T	0.32988	1.46;1.43	2.99	2.99	0.34606	.	0.090204	0.47455	D	0.000230	T	0.29126	0.0724	N	0.08118	0	0.32553	N	0.532067	P;P;P	0.47106	0.89;0.775;0.824	D;B;P	0.64237	0.923;0.198;0.84	T	0.34279	-0.9835	10	0.87932	D	0	-0.0395	7.8124	0.29239	0.0:0.0:0.0:1.0	.	272;186;323	Q6UXU4-3;Q6UXU4-4;Q6UXU4	.;.;GSG1L_HUMAN	P	323;272;186;168	ENSP00000394954:Q323P;ENSP00000379074:Q272P	ENSP00000370282:Q168P	Q	-	2	0	GSG1L	27710220	1.000000	0.71417	1.000000	0.80357	0.915000	0.54546	2.898000	0.48672	1.624000	0.50355	0.413000	0.27773	CAG		0.642	GSG1L-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433832.2	NM_144675		14	96	0	0	0	1	0	14	96					G	27802719	T	G	27802719	3	3	45	1	0	0	0	0	1	0	0	0	6821	1580	55	5	31	5	GSG1L	16	27802719	Missense_Mutation	SNP	T	TCGA-EJ-5495-01A-01D-1576-08	7758735	27802719	62552034	64	2450			1	10		2	2	30	N	T_G	8.61811e-05
GSG1L	146395	broad.mit.edu	37	chr16	27802748	27802748	+	Silent	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agctctggtgcttcctgtgcGgagctccggggccaggaatc	5	9	15	12	2	1	0	0	0	1	0	4	2	3	2	3	5	4	3	3	5	1	1			TCGA-EJ-5495-01A-01D-1576-08	TCGA-EJ-5495-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a06cd9-5e37-41b7-954f-173a2ab44179	695fd2d7-9426-45e1-81f0-79fbdf6ba0bf	g.chr16:27802748G>C	ENST00000447459.2	-	7	1023	c.939C>G	c.(937-939)tcC>tcG	p.S313S	GSG1L_ENST00000395724.3_Silent_p.S262S|GSG1L_ENST00000380897.3_Silent_p.S158S|GSG1L_ENST00000569166.1_Silent_p.S176S|GSG1L_ENST00000380898.2_Silent_p.S176S	NM_001109763.1	NP_001103233.1	Q6UXU4	GSG1L_HUMAN	GSG1-like	313					regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)	asymmetric synapse (GO:0032279)|cell junction (GO:0030054)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.S313S(1)|p.S158S(1)		endometrium(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(4)	17						CTTCCTGTGCGGAGCTCCGGG	0.637																																						ENST00000380898.2																			2	Substitution - coding silent(2)	p.S313S(1)|p.S158S(1)	prostate(2)	endometrium(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(4)	17						c.(526-528)tcC>tcG		GSG1-like							72	59	64					16																	27802748		2197	4300	6497	SO:0001819	synonymous_variant	146395					integral to membrane		g.chr16:27802748G>C	AK128775	CCDS10631.1, CCDS45450.1	16p11.2	2014-01-20			ENSG00000169181	ENSG00000169181			28283	protein-coding gene	gene with protein product						22813734	Standard	NM_001109763		Approved	MGC18079, PRO19651, KTSR5831	uc002doz.2	Q6UXU4	OTTHUMG00000131676	ENST00000447459.2:c.939C>G	16.37:g.27802748G>C						GSG1L_ENST00000569166.1_Silent_p.S176S|GSG1L_ENST00000380897.3_Silent_p.S158S|GSG1L_ENST00000395724.3_Silent_p.S262S|GSG1L_ENST00000447459.2_Silent_p.S313S	p.S176S			Q6UXU4	GSG1L_HUMAN			8	1077	-			313					Q7Z6F8|Q8TB81	Silent	SNP	ENST00000447459.2	37	c.528C>G	CCDS45450.1																																																																																				0.637	GSG1L-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433832.2	NM_144675		9	72	0	0	0	1	0	9	72					C	27802748	G	C	27802748	2	2	45	1	0	0	0	0	0	0	0	1	6821	1103	39	5		5	GSG1L	16	27802748	Silent	SNP	G	TCGA-EJ-5495-01A-01D-1576-08	29	27802748	62552005	65	2451			1	10		2	2	30	N	T_G	8.61811e-05
VPS35	55737	broad.mit.edu	37	chr16	46712857	46712857	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	taacaaaaatatataaacctGtttgtaacgttccacattta	17	14	3	7	1	0	0	0	0	0	0	1	0	1	0	2	0	3	3	2	0	9	9			TCGA-EJ-5495-01A-01D-1576-08	TCGA-EJ-5495-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a06cd9-5e37-41b7-954f-173a2ab44179	695fd2d7-9426-45e1-81f0-79fbdf6ba0bf	g.chr16:46712857G>C	ENST00000299138.7	-	6	776	c.718C>G	c.(718-720)Cag>Gag	p.Q240E	VPS35_ENST00000568642.1_5'UTR	NM_018206.4	NP_060676.2	Q96QK1	VPS35_HUMAN	vacuolar protein sorting 35 homolog (S. cerevisiae)	240					cell death (GO:0008219)|protein transport (GO:0015031)|retrograde transport, endosome to Golgi (GO:0042147)	cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|retromer complex (GO:0030904)		p.Q240E(1)		breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|pancreas(1)|prostate(1)|urinary_tract(1)	23		all_cancers(37;7.65e-05)|all_epithelial(9;0.000154)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116)				ATATAAACCTGTTTGTAACGT	0.308																																						ENST00000299138.7																			1	Substitution - Missense(1)	p.Q240E(1)	prostate(1)	breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|pancreas(1)|prostate(1)|urinary_tract(1)	23						c.(718-720)Cag>Gag		vacuolar protein sorting 35 homolog (S. cerevisiae)							121	120	121					16																	46712857		2203	4300	6503	SO:0001583	missense	55737				protein transport|retrograde transport, endosome to Golgi	cytosol|endosome|membrane	protein binding	g.chr16:46712857G>C	AF175265	CCDS10721.1	16q12	2012-06-27	2006-12-19		ENSG00000069329	ENSG00000069329		"Parkinson disease"	13487	protein-coding gene	gene with protein product		601501	"vacuolar protein sorting 35 (yeast homolog)", "vacuolar protein sorting 35 (yeast)"			11112353, 21763482	Standard	NM_018206		Approved	FLJ10752, MEM3, PARK17	uc002eef.4	Q96QK1	OTTHUMG00000132542	ENST00000299138.7:c.718C>G	16.37:g.46712857G>C	ENSP00000299138:p.Gln240Glu					VPS35_ENST00000568642.1_5'UTR	p.Q240E	NM_018206.4	NP_060676.2	Q96QK1	VPS35_HUMAN			6	776	-		all_cancers(37;7.65e-05)|all_epithelial(9;0.000154)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116)	240					Q561W2|Q9H016|Q9H096|Q9H4P3|Q9H8J0|Q9NRS7|Q9NVG2|Q9NX80|Q9NZK2	Missense_Mutation	SNP	ENST00000299138.7	37	c.718C>G	CCDS10721.1	.	.	.	.	.	.	.	.	.	.	.	12.59	1.983281	0.35036	.	.	ENSG00000069329	ENST00000299138;ENST00000541330	T	0.63096	-0.02	5.31	5.31	0.75309	.	0.053959	0.85682	N	0.000000	T	0.29882	0.0747	N	0.00642	-1.3	0.80722	D	1	B;B	0.06786	0.0;0.001	B;B	0.06405	0.0;0.002	T	0.47812	-0.9088	10	0.02654	T	1	-8.1024	19.4079	0.94655	0.0:0.0:1.0:0.0	.	240;105	Q96QK1;F5GYF5	VPS35_HUMAN;.	E	240;105	ENSP00000299138:Q240E	ENSP00000299138:Q240E	Q	-	1	0	VPS35	45270358	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	9.813000	0.99286	2.654000	0.90174	0.454000	0.30748	CAG		0.308	VPS35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255742.3			39	188	0	0	0	1	0	39	188					C	46712857	G	C	46712857	3	2	45	1	0	0	0	0	1	0	0	0	17200	1386	48	5	1720	5	VPS35	16	46712857	Missense_Mutation	SNP	G	TCGA-EJ-5495-01A-01D-1576-08	18910109	46712857	43641896	66	2452											
GLOD4	51031	broad.mit.edu	37	chr17	674590	674590	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatcagcatagcccagcaaaGccctttgcttttcttcatct	9	14	5	13	0	4	0	2	0	2	0	4	0	4	0	2	0	5	3	2	0	3	6			TCGA-EJ-5495-01A-01D-1576-08	TCGA-EJ-5495-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a06cd9-5e37-41b7-954f-173a2ab44179	695fd2d7-9426-45e1-81f0-79fbdf6ba0bf	g.chr17:674590G>A	ENST00000301328.5	-	6	586	c.563C>T	c.(562-564)gCt>gTt	p.A188V	GLOD4_ENST00000536578.1_Missense_Mutation_p.A164V|GLOD4_ENST00000301329.6_Missense_Mutation_p.A173V			Q9HC38	GLOD4_HUMAN	glyoxalase domain containing 4	188						extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)		p.A173V(1)		endometrium(1)|large_intestine(1)|prostate(1)	3				UCEC - Uterine corpus endometrioid carcinoma (25;0.022)		GCCCAGCAAAGCCCTTTGCTT	0.368																																						ENST00000301329.6																			1	Substitution - Missense(1)	p.A173V(1)	prostate(1)	endometrium(1)|large_intestine(1)|prostate(1)	3						c.(517-519)gCt>gTt		glyoxalase domain containing 4							191	195	194					17																	674590		2203	4300	6503	SO:0001583	missense	51031					mitochondrion		g.chr17:674590G>A	AF177342	CCDS32520.1	17p13.3	2008-02-05	2007-03-14	2007-03-14		ENSG00000167699			14111	protein-coding gene	gene with protein product			"chromosome 17 open reading frame 25"	C17orf25		11642406, 12528892	Standard	NM_016080		Approved	CGI-150, HC71	uc002fru.3	Q9HC38		ENST00000301328.5:c.563C>T	17.37:g.674590G>A	ENSP00000301328:p.Ala188Val					GLOD4_ENST00000536578.1_Missense_Mutation_p.A164V|GLOD4_ENST00000301328.5_Missense_Mutation_p.A188V	p.A173V	NM_016080.3	NP_057164.3	Q9HC38	GLOD4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.022)	5	603	-			188					D3DTG9|D3DTH1|Q96B89|Q9H3J8|Q9HC37|Q9NVN1	Missense_Mutation	SNP	ENST00000301328.5	37	c.518C>T		.	.	.	.	.	.	.	.	.	.	G	11.36	1.615148	0.28712	.	.	ENSG00000167699	ENST00000301329;ENST00000397393;ENST00000301328;ENST00000536578	T;T;T	0.51325	0.77;0.76;0.71	5.97	5.01	0.66863	.	0.291593	0.37483	N	0.002079	T	0.41719	0.1171	L	0.43701	1.375	0.48571	D	0.999679	B;B;B	0.13145	0.002;0.005;0.007	B;B;B	0.19666	0.014;0.026;0.013	T	0.21042	-1.0257	10	0.29301	T	0.29	-9.2143	14.4427	0.67327	0.0703:0.0:0.9297:0.0	.	164;188;173	B7Z403;Q9HC38;Q9HC38-2	.;GLOD4_HUMAN;.	V	173;376;188;164	ENSP00000301329:A173V;ENSP00000301328:A188V;ENSP00000444315:A164V	ENSP00000301328:A188V	A	-	2	0	GLOD4	621340	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	2.878000	0.48515	1.536000	0.49237	0.655000	0.94253	GCT		0.368	GLOD4-005	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000437190.1	NM_016080		51	396	0	0	0	1	0	51	396					A	674590	G	A	674590	3	1	45	1	0	0	0	0	1	0	0	0	6450	971	34	3	398	3	GLOD4	17	674590	Missense_Mutation	SNP	G	TCGA-EJ-5495-01A-01D-1576-08		674590	80520620	67	2453											
DNAH2	146754	broad.mit.edu	37	chr17	7673934	7673934	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctcgacatagtaccctacaaGgataagggccatcatcggct	12	8	9	12	2	1	0	1	0	0	0	3	2	1	1	2	3	2	2	2	3	5	4			TCGA-EJ-5495-01A-01D-1576-08	TCGA-EJ-5495-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a06cd9-5e37-41b7-954f-173a2ab44179	695fd2d7-9426-45e1-81f0-79fbdf6ba0bf	g.chr17:7673934G>A	ENST00000572933.1	+	26	5618	c.4158G>A	c.(4156-4158)aaG>aaA	p.K1386K	DNAH2_ENST00000389173.2_Silent_p.K1386K			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	1386	Stem. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.K1386K(1)		NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				TACCCTACAAGGATAAGGGCC	0.552																																						ENST00000572933.1																			1	Substitution - coding silent(1)	p.K1386K(1)	prostate(1)	NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189						c.(4156-4158)aaG>aaA		dynein, axonemal, heavy chain 2							86	84	85					17																	7673934		2203	4300	6503	SO:0001819	synonymous_variant	146754				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:7673934G>A	U83570, AK128517	CCDS32551.1	17p13.1	2007-10-05	2006-09-04			ENSG00000183914		"Axonemal dyneins"	2948	protein-coding gene	gene with protein product		603333	"dynein, axonemal, heavy polypeptide 2", "dynein heavy chain domain 3"	DNHD3		9256245	Standard	XM_005256470		Approved	KIAA1503, FLJ46675	uc002giu.1	Q9P225		ENST00000572933.1:c.4158G>A	17.37:g.7673934G>A						DNAH2_ENST00000389173.2_Silent_p.K1386K	p.K1386K			Q9P225	DYH2_HUMAN			26	5618	+		all_cancers(10;4.66e-07)|Prostate(122;0.081)	1386			Stem (By similarity).		A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	Silent	SNP	ENST00000572933.1	37	c.4158G>A	CCDS32551.1																																																																																				0.552	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440241.1	NM_020877		42	182	0	0	0	1	0	42	182					A	7673934	G	A	7673934	2	1	45	1	0	0	0	0	0	0	0	1	4602	991	35	3		3	DNAH2	17	7673934	Silent	SNP	G	TCGA-EJ-5495-01A-01D-1576-08	6999344	7673934	73521276	68	2454											
ANKRD13B	124930	broad.mit.edu	37	chr17	27934857	27934857	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ccgtgtgctcctggcgcacgGcgcagacgtgggcagggaga	6	5	18	12	5	0	2	0	0	0	2	1	3	1	2	2	4	1	4	2	4	0	0			TCGA-EJ-5495-01A-01D-1576-08	TCGA-EJ-5495-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a06cd9-5e37-41b7-954f-173a2ab44179	695fd2d7-9426-45e1-81f0-79fbdf6ba0bf	g.chr17:27934857G>A	ENST00000394859.3	+	2	366	c.212G>A	c.(211-213)gGc>gAc	p.G71D	RP11-68I3.2_ENST00000581474.1_RNA	NM_152345.4	NP_689558.4	Q86YJ7	AN13B_HUMAN	ankyrin repeat domain 13B	71						endosome (GO:0005768)|plasma membrane (GO:0005886)		p.G71D(1)		cervix(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(2)	16						CTGGCGCACGGCGCAGACGTG	0.701																																						ENST00000394859.3																			1	Substitution - Missense(1)	p.G71D(1)	prostate(1)	cervix(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(2)	16						c.(211-213)gGc>gAc		ankyrin repeat domain 13B							23	26	25					17																	27934857		2198	4290	6488	SO:0001583	missense	124930							g.chr17:27934857G>A	AK092673	CCDS11251.1	17q11.2	2013-01-10			ENSG00000198720	ENSG00000198720		"Ankyrin repeat domain containing"	26363	protein-coding gene	gene with protein product		615124					Standard	NM_152345		Approved	FLJ25555	uc002hei.3	Q86YJ7	OTTHUMG00000132731	ENST00000394859.3:c.212G>A	17.37:g.27934857G>A	ENSP00000378328:p.Gly71Asp					RP11-68I3.2_ENST00000581474.1_RNA	p.G71D	NM_152345.4	NP_689558.4	Q86YJ7	AN13B_HUMAN			2	366	+			71					Q8N7S9	Missense_Mutation	SNP	ENST00000394859.3	37	c.212G>A	CCDS11251.1	.	.	.	.	.	.	.	.	.	.	G	24.6	4.549985	0.86127	.	.	ENSG00000198720	ENST00000394859	T	0.79141	-1.24	5.62	5.62	0.85841	Ankyrin repeat-containing domain (4);	0.000000	0.85682	D	0.000000	D	0.82953	0.5149	M	0.79011	2.435	0.80722	D	1	P	0.41041	0.736	P	0.46026	0.501	T	0.81291	-0.0999	10	0.31617	T	0.26	-20.8698	19.2592	0.93961	0.0:0.0:1.0:0.0	.	71	Q86YJ7	AN13B_HUMAN	D	71	ENSP00000378328:G71D	ENSP00000378328:G71D	G	+	2	0	ANKRD13B	24958983	1.000000	0.71417	0.948000	0.38648	0.900000	0.52787	6.762000	0.74950	2.637000	0.89404	0.561000	0.74099	GGC		0.701	ANKRD13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256077.1	NM_152345		16	72	0	0	0	1	0	16	72					A	27934857	G	A	27934857	3	1	45	1	0	0	0	0	1	0	0	0	642	1203	42	3	218	3	ANKRD13B	17	27934857	Missense_Mutation	SNP	G	TCGA-EJ-5495-01A-01D-1576-08	20260923	27934857	53260353	69	2455											
MED13	9969	broad.mit.edu	37	chr17	60140573	60140573	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgactaaaactgctcaaaatGgggtcttcttctgtcacagg	11	11	9	10	1	5	0	2	0	3	0	5	1	5	0	0	3	2	1	0	3	4	3			TCGA-EJ-5495-01A-01D-1576-08	TCGA-EJ-5495-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a06cd9-5e37-41b7-954f-173a2ab44179	695fd2d7-9426-45e1-81f0-79fbdf6ba0bf	g.chr17:60140573G>A	ENST00000397786.2	-	2	232	c.156C>T	c.(154-156)ccC>ccT	p.P52P		NM_005121.2	NP_005112.2	Q9UHV7	MED13_HUMAN	mediator complex subunit 13	52					androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|receptor activity (GO:0004872)|RNA polymerase II transcription cofactor activity (GO:0001104)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)	p.P52P(1)		breast(4)|central_nervous_system(1)|endometrium(10)|kidney(24)|large_intestine(15)|liver(1)|lung(20)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						TGCTCAAAATGGGGTCTTCTT	0.453																																						ENST00000397786.2																			1	Substitution - coding silent(1)	p.P52P(1)	prostate(1)	breast(4)|central_nervous_system(1)|endometrium(10)|kidney(24)|large_intestine(15)|liver(1)|lung(20)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						c.(154-156)ccC>ccT		mediator complex subunit 13							141	140	140					17																	60140573		1849	4089	5938	SO:0001819	synonymous_variant	9969				androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	g.chr17:60140573G>A	AB011165	CCDS42366.1	17q22-q23	2007-07-30	2007-07-30	2007-07-30		ENSG00000108510			22474	protein-coding gene	gene with protein product		603808	"thyroid hormone receptor associated protein 1"	THRAP1		1019863	Standard	NM_005121		Approved	KIAA0593, TRAP240	uc002izo.3	Q9UHV7		ENST00000397786.2:c.156C>T	17.37:g.60140573G>A							p.P52P	NM_005121.2	NP_005112.2	Q9UHV7	MED13_HUMAN			2	232	-			52					B2RU05|O60334	Silent	SNP	ENST00000397786.2	37	c.156C>T	CCDS42366.1																																																																																				0.453	MED13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445461.1	NM_005121		67	287	0	0	0	1	0	67	287					A	60140573	G	A	60140573	2	1	45	1	0	0	0	0	0	0	0	1	9430	1335	47	3		3	MED13	17	60140573	Silent	SNP	G	TCGA-EJ-5495-01A-01D-1576-08	32205716	60140573	21054637	70	2456											
SSTR2	6752	broad.mit.edu	37	chr17	71165834	71165834	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgactgtggatggcatcaatCagttcaccagcatcttctgc	9	12	9	11	0	5	1	3	1	2	0	5	2	5	2	1	2	2	3	1	2	1	2			TCGA-EJ-5495-01A-01D-1576-08	TCGA-EJ-5495-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a06cd9-5e37-41b7-954f-173a2ab44179	695fd2d7-9426-45e1-81f0-79fbdf6ba0bf	g.chr17:71165834C>G	ENST00000357585.2	+	2	745	c.376C>G	c.(376-378)Cag>Gag	p.Q126E	RP11-143K11.5_ENST00000580671.1_RNA|SSTR2_ENST00000315332.2_Missense_Mutation_p.Q126E	NM_001050.2	NP_001041.1	P30874	SSR2_HUMAN	somatostatin receptor 2	126					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cell-cell signaling (GO:0007267)|cellular response to estradiol stimulus (GO:0071392)|cellular response to glucocorticoid stimulus (GO:0071385)|cerebellum development (GO:0021549)|digestion (GO:0007586)|forebrain development (GO:0030900)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|negative regulation of cell proliferation (GO:0008285)|peristalsis (GO:0030432)|regulation of muscle contraction (GO:0006937)|response to nutrient (GO:0007584)|response to starvation (GO:0042594)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	PDZ domain binding (GO:0030165)|somatostatin receptor activity (GO:0004994)	p.Q126E(1)		endometrium(2)|large_intestine(5)|lung(2)|prostate(2)	11			LUSC - Lung squamous cell carcinoma(166;0.197)		Octreotide(DB00104)|Pasireotide(DB06663)|Vapreotide(DB04894)	TGGCATCAATCAGTTCACCAG	0.587																																						ENST00000357585.2																			1	Substitution - Missense(1)	p.Q126E(1)	prostate(1)	endometrium(2)|large_intestine(5)|lung(2)|prostate(2)	11						c.(376-378)Cag>Gag		somatostatin receptor 2							111	92	98					17																	71165834		2203	4300	6503	SO:0001583	missense	0				digestion|negative regulation of cell proliferation|response to nutrient	integral to plasma membrane	PDZ domain binding|somatostatin receptor activity	g.chr17:71165834C>G		CCDS11691.1	17q24	2012-08-08				ENSG00000180616		"GPCR / Class A : Somatostatin receptors"	11331	protein-coding gene	gene with protein product		182452				8449518	Standard	NM_001050		Approved		uc002jje.3	P30874		ENST00000357585.2:c.376C>G	17.37:g.71165834C>G	ENSP00000350198:p.Gln126Glu					RP11-143K11.5_ENST00000580671.1_RNA|SSTR2_ENST00000315332.2_Missense_Mutation_p.Q126E	p.Q126E	NM_001050.2	NP_001041.1	P30874	SSR2_HUMAN	LUSC - Lung squamous cell carcinoma(166;0.197)		2	745	+			126					A8K3Y0|B2R9P7|Q4VBP0|Q96GE0|Q96TF2|Q9BWH1	Missense_Mutation	SNP	ENST00000357585.2	37	c.376C>G	CCDS11691.1	.	.	.	.	.	.	.	.	.	.	C	19.09	3.759387	0.69763	.	.	ENSG00000180616	ENST00000357585;ENST00000315332	T;T	0.19250	2.16;2.16	5.79	5.79	0.91817	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.60971	0.2310	H	0.94847	3.59	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	T	0.71251	-0.4648	10	0.66056	D	0.02	.	19.635	0.95728	0.0:1.0:0.0:0.0	.	126	P30874	SSR2_HUMAN	E	126	ENSP00000350198:Q126E;ENSP00000326616:Q126E	ENSP00000326616:Q126E	Q	+	1	0	SSTR2	68677429	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.814000	0.86154	2.733000	0.93635	0.655000	0.94253	CAG		0.587	SSTR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441633.1			25	104	0	0	0	1	0	25	104					G	71165834	C	G	71165834	3	3	45	1	0	0	0	0	1	0	0	0	15197	827	29	5	378	5	SSTR2	17	71165834	Missense_Mutation	SNP	C	TCGA-EJ-5495-01A-01D-1576-08	11025261	71165834	10029376	71	2457											
NPTX1	4884	broad.mit.edu	37	chr17	78449346	78449346	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgatccgctggtgcagggagGtcagggcggtctcgatcttg	5	10	17	9	3	3	1	1	1	2	0	5	3	4	2	1	5	1	2	1	5	0	1			TCGA-EJ-5495-01A-01D-1576-08	TCGA-EJ-5495-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a06cd9-5e37-41b7-954f-173a2ab44179	695fd2d7-9426-45e1-81f0-79fbdf6ba0bf	g.chr17:78449346G>T	ENST00000306773.4	-	2	774	c.617C>A	c.(616-618)aCc>aAc	p.T206N	NPTX1_ENST00000575212.1_5'UTR	NM_002522.3	NP_002513.2	Q15818	NPTX1_HUMAN	neuronal pentraxin I	206					axonogenesis involved in innervation (GO:0060385)|cellular response to glucose stimulus (GO:0071333)|cellular response to potassium ion (GO:0035865)|central nervous system development (GO:0007417)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|mitochondrial transport (GO:0006839)|synaptic transmission (GO:0007268)|transport (GO:0006810)	cytoplasmic vesicle (GO:0031410)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)	p.T206N(1)		kidney(1)|large_intestine(2)|liver(1)|lung(4)|prostate(2)|upper_aerodigestive_tract(1)	11	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0232)|OV - Ovarian serous cystadenocarcinoma(97;0.0487)			GTGCAGGGAGGTCAGGGCGGT	0.687																																						ENST00000306773.4																			1	Substitution - Missense(1)	p.T206N(1)	prostate(1)	kidney(1)|large_intestine(2)|liver(1)|lung(4)|prostate(2)|upper_aerodigestive_tract(1)	11						c.(616-618)aCc>aAc		neuronal pentraxin I							48	36	40					17																	78449346		2201	4300	6501	SO:0001583	missense	4884				central nervous system development|synaptic transmission|transport	transport vesicle	metal ion binding	g.chr17:78449346G>T	U61849	CCDS32762.1	17q25.3	2008-05-14				ENSG00000171246			7952	protein-coding gene	gene with protein product		602367				8884281	Standard	NM_002522		Approved		uc002jyp.1	Q15818		ENST00000306773.4:c.617C>A	17.37:g.78449346G>T	ENSP00000307549:p.Thr206Asn					NPTX1_ENST00000575212.1_5'UTR	p.T206N	NM_002522.3	NP_002513.2	Q15818	NPTX1_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0232)|OV - Ovarian serous cystadenocarcinoma(97;0.0487)		2	774	-	all_neural(118;0.0538)		206					B3KXH3|Q5FWE6	Missense_Mutation	SNP	ENST00000306773.4	37	c.617C>A	CCDS32762.1	.	.	.	.	.	.	.	.	.	.	G	3.280	-0.147254	0.06627	.	.	ENSG00000171246	ENST00000306773	T	0.08370	3.1	3.6	2.59	0.31030	.	0.000000	0.85682	D	0.000000	T	0.08714	0.0216	N	0.22421	0.69	0.49483	D	0.999794	D	0.65815	0.995	P	0.55112	0.769	T	0.08411	-1.0723	10	0.02654	T	1	-22.3885	11.8845	0.52594	0.0:0.1788:0.8212:0.0	.	206	Q15818	NPTX1_HUMAN	N	206	ENSP00000307549:T206N	ENSP00000307549:T206N	T	-	2	0	NPTX1	76063941	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	6.060000	0.71141	0.812000	0.34326	0.561000	0.74099	ACC		0.687	NPTX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438051.1			6	46	1	0	0.0215528	1	0.0226127	6	46					T	78449346	G	T	78449346	3	4	45	1	0	0	0	0	1	0	0	0	10602	1261	44	5	697	5	NPTX1	17	78449346	Missense_Mutation	SNP	G	TCGA-EJ-5495-01A-01D-1576-08	7283512	78449346	2745864	72	2458											
EPB41L3	23136	broad.mit.edu	37	chr18	5445182	5445182	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acgtaagcccaaagtagtctTtctctagcaagttcaagtgt	12	12	8	9	1	3	0	1	0	2	0	4	0	3	0	1	0	2	4	1	0	6	5			TCGA-EJ-5495-01A-01D-1576-08	TCGA-EJ-5495-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a06cd9-5e37-41b7-954f-173a2ab44179	695fd2d7-9426-45e1-81f0-79fbdf6ba0bf	g.chr18:5445182T>G	ENST00000341928.2	-	4	783	c.443A>C	c.(442-444)aAa>aCa	p.K148T	EPB41L3_ENST00000400111.3_Missense_Mutation_p.K148T|EPB41L3_ENST00000342933.3_Missense_Mutation_p.K148T|EPB41L3_ENST00000540638.2_Missense_Mutation_p.K148T|EPB41L3_ENST00000544123.1_Missense_Mutation_p.K148T|EPB41L3_ENST00000542652.2_5'UTR	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	148	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				apoptotic process (GO:0006915)|cortical actin cytoskeleton organization (GO:0030866)|cortical cytoskeleton organization (GO:0030865)|cytoskeletal anchoring at plasma membrane (GO:0007016)|myelin maintenance (GO:0043217)|neuron projection morphogenesis (GO:0048812)|paranodal junction assembly (GO:0030913)|protein localization to juxtaparanode region of axon (GO:0071205)|protein localization to paranode region of axon (GO:0002175)|protein localization to plasma membrane (GO:0072659)|regulation of cell shape (GO:0008360)	axolemma (GO:0030673)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)|juxtaparanode region of axon (GO:0044224)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)	p.K148T(1)		breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						AAAGTAGTCTTTCTCTAGCAA	0.408																																						ENST00000341928.2																			1	Substitution - Missense(1)	p.K148T(1)	prostate(1)	breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						c.(442-444)aAa>aCa		erythrocyte membrane protein band 4.1-like 3							202	160	174					18																	5445182		2203	4300	6503	SO:0001583	missense	23136				cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity	g.chr18:5445182T>G	AB023204	CCDS11838.1, CCDS62381.1, CCDS62382.1	18p11.32	2006-06-28			ENSG00000082397	ENSG00000082397			3380	protein-coding gene	gene with protein product		605331				9828140, 9892180	Standard	NM_012307		Approved	DAL1, KIAA0987, 4.1B	uc002kmt.1	Q9Y2J2	OTTHUMG00000131562	ENST00000341928.2:c.443A>C	18.37:g.5445182T>G	ENSP00000343158:p.Lys148Thr					EPB41L3_ENST00000400111.3_Missense_Mutation_p.K148T|EPB41L3_ENST00000540638.2_Missense_Mutation_p.K148T|EPB41L3_ENST00000544123.1_Missense_Mutation_p.K148T|EPB41L3_ENST00000342933.3_Missense_Mutation_p.K148T|EPB41L3_ENST00000542652.2_5'UTR	p.K148T	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN			4	783	-			148			FERM.		B7Z4I5|F5GX05|O95713|Q9BRP5	Missense_Mutation	SNP	ENST00000341928.2	37	c.443A>C	CCDS11838.1	.	.	.	.	.	.	.	.	.	.	T	24.0	4.479266	0.84747	.	.	ENSG00000082397	ENST00000341928;ENST00000540638;ENST00000544123;ENST00000545076;ENST00000342933;ENST00000400111;ENST00000542652	T;T;T;T	0.75704	-0.96;-0.96;-0.96;-0.96	5.82	5.82	0.92795	FERM, N-terminal (1);Band 4.1 domain (1);FERM domain (1);	0.048148	0.85682	D	0.000000	D	0.82646	0.5082	L	0.49778	1.585	0.80722	D	1	D;P;D;D;P	0.89917	0.999;0.923;1.0;1.0;0.943	D;P;D;D;D	0.85130	0.997;0.717;0.992;0.986;0.929	T	0.82669	-0.0343	10	0.46703	T	0.11	.	15.1603	0.72778	0.0:0.0:0.0:1.0	.	148;148;39;148;148	F5GX05;Q9Y2J2-3;A8K968;Q9Y2J2-2;Q9Y2J2	.;.;.;.;E41L3_HUMAN	T	148;39;148;39;148;148;229	ENSP00000343158:K148T;ENSP00000441174:K148T;ENSP00000341138:K148T;ENSP00000382981:K148T	ENSP00000343158:K148T	K	-	2	0	EPB41L3	5435182	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.713000	0.61895	2.222000	0.72286	0.383000	0.25322	AAA		0.408	EPB41L3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254424.1	NM_012307		48	278	0	0	0	1	0	48	278					G	5445182	T	G	5445182	3	3	45	1	0	0	0	0	1	0	0	0	5154	1841	64	5	2896	5	EPB41L3	18	5445182	Missense_Mutation	SNP	T	TCGA-EJ-5495-01A-01D-1576-08		5445182	72632066	73	2459											
SETBP1	26040	broad.mit.edu	37	chr18	42530401	42530401	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agaaagcatttgacaatacaGaagggaaaagggaaggttat	19	7	12	3	0	0	3	0	1	0	2	0	5	0	5	0	3	2	2	0	3	8	3			TCGA-EJ-5495-01A-01D-1576-08	TCGA-EJ-5495-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a06cd9-5e37-41b7-954f-173a2ab44179	695fd2d7-9426-45e1-81f0-79fbdf6ba0bf	g.chr18:42530401G>A	ENST00000282030.5	+	4	1392	c.1096G>A	c.(1096-1098)Gaa>Aaa	p.E366K		NM_015559.2	NP_056374.2	Q9Y6X0	SETBP_HUMAN	SET binding protein 1	366						nucleus (GO:0005634)	DNA binding (GO:0003677)	p.E366K(2)|p.E312K(2)		NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	104				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		TGACAATACAGAAGGGAAAAG	0.453									Schinzel-Giedion syndrome																													ENST00000282030.5																			4	Substitution - Missense(4)	p.E366K(2)|p.E312K(2)	urinary_tract(2)|prostate(2)	NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	104						c.(1096-1098)Gaa>Aaa		SET binding protein 1							66	66	66					18																	42530401		2203	4300	6503	SO:0001583	missense	26040	Schinzel-Giedion syndrome	Familial Cancer Database	SGC, Schinzel-Giedion Midface Retraction syndrome		nucleus	DNA binding	g.chr18:42530401G>A	AB022660	CCDS11923.2, CCDS45859.1	18q21.1	2008-08-01			ENSG00000152217	ENSG00000152217			15573	protein-coding gene	gene with protein product		611060				11231286	Standard	NM_015559		Approved	SEB, KIAA0437	uc010dni.3	Q9Y6X0	OTTHUMG00000132613	ENST00000282030.5:c.1096G>A	18.37:g.42530401G>A	ENSP00000282030:p.Glu366Lys						p.E366K	NM_015559.2	NP_056374.2	Q9Y6X0	SETBP_HUMAN		Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)	4	1392	+			366					A6H8W5|Q6P6C3|Q9UEF3	Missense_Mutation	SNP	ENST00000282030.5	37	c.1096G>A	CCDS11923.2	.	.	.	.	.	.	.	.	.	.	G	20.2	3.943478	0.73672	.	.	ENSG00000152217	ENST00000282030	T	0.35789	1.29	5.78	5.78	0.91487	.	0.051457	0.85682	D	0.000000	T	0.32102	0.0818	L	0.29908	0.895	0.39722	D	0.971481	B	0.15930	0.015	B	0.24269	0.052	T	0.08827	-1.0703	10	0.20046	T	0.44	.	20.3668	0.98882	0.0:0.0:1.0:0.0	.	366	Q9Y6X0	SETBP_HUMAN	K	366	ENSP00000282030:E366K	ENSP00000282030:E366K	E	+	1	0	SETBP1	40784399	1.000000	0.71417	0.998000	0.56505	0.689000	0.40095	5.871000	0.69628	2.894000	0.99253	0.655000	0.94253	GAA		0.453	SETBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255854.4	NM_001130110		33	149	0	0	0	1	0	33	149					A	42530401	G	A	42530401	3	1	45	1	0	0	0	0	1	0	0	0	14129	943	33	3	1299	3	SETBP1	18	42530401	Missense_Mutation	SNP	G	TCGA-EJ-5495-01A-01D-1576-08	37085219	42530401	35546847	74	2460											
PIP5K1C	23396	broad.mit.edu	37	chr19	3643243	3643243	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgcggatgcctcgcccacctGtaccgcggctgctccgacgt	4	8	12	17	6	0	0	0	0	0	0	2	2	1	1	5	2	4	3	5	2	1	1			TCGA-EJ-5495-01A-01D-1576-08	TCGA-EJ-5495-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a06cd9-5e37-41b7-954f-173a2ab44179	695fd2d7-9426-45e1-81f0-79fbdf6ba0bf	g.chr19:3643243G>A	ENST00000335312.3	-	13	1735	c.1647C>T	c.(1645-1647)taC>taT	p.Y549Y	PIP5K1C_ENST00000537021.1_Silent_p.Y549Y|PIP5K1C_ENST00000589578.1_Silent_p.Y549Y|PIP5K1C_ENST00000539785.1_Silent_p.Y549Y	NM_001195733.1|NM_012398.2	NP_001182662.1|NP_036530.1	O60331	PI51C_HUMAN	phosphatidylinositol-4-phosphate 5-kinase, type I, gamma	549					actin cytoskeleton organization (GO:0030036)|adherens junction assembly (GO:0034333)|axon guidance (GO:0007411)|clathrin-mediated endocytosis (GO:0072583)|cytoskeletal anchoring at plasma membrane (GO:0007016)|neutrophil chemotaxis (GO:0030593)|phagocytosis (GO:0006909)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|platelet aggregation (GO:0070527)|single organismal cell-cell adhesion (GO:0016337)|small molecule metabolic process (GO:0044281)|synaptic vesicle endocytosis (GO:0048488)|synaptic vesicle exocytosis (GO:0016079)	cytosol (GO:0005829)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|uropod (GO:0001931)	1-phosphatidylinositol-4-phosphate 5-kinase activity (GO:0016308)|ATP binding (GO:0005524)	p.Y549Y(1)		large_intestine(3)|ovary(1)|skin(3)|stomach(2)	9		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.95e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0026)|STAD - Stomach adenocarcinoma(1328;0.183)		TCGCCCACCTGTACCGCGGCT	0.657																																					Esophageal Squamous(135;99 1744 12852 27186 39851)	ENST00000335312.3																			1	Substitution - coding silent(1)	p.Y549Y(1)	prostate(1)	large_intestine(3)|ovary(1)|skin(3)|stomach(2)	9						c.(1645-1647)taC>taT		phosphatidylinositol-4-phosphate 5-kinase, type I, gamma							80	71	74					19																	3643243		2203	4300	6503	SO:0001819	synonymous_variant	23396				axon guidance	cytosol|plasma membrane	1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding	g.chr19:3643243G>A	AB011161	CCDS32872.1, CCDS56074.1, CCDS74257.1	19p13.3	2012-10-02			ENSG00000186111	ENSG00000186111			8996	protein-coding gene	gene with protein product		606102				9535851	Standard	NM_001195733		Approved	PIP5Kgamma, KIAA0589, LCCS3	uc002lyj.2	O60331	OTTHUMG00000180870	ENST00000335312.3:c.1647C>T	19.37:g.3643243G>A						PIP5K1C_ENST00000539785.1_Silent_p.Y549Y|PIP5K1C_ENST00000537021.1_Silent_p.Y549Y|PIP5K1C_ENST00000589578.1_Silent_p.Y549Y	p.Y549Y	NM_001195733.1|NM_012398.2	NP_001182662.1|NP_036530.1	O60331	PI51C_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.95e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0026)|STAD - Stomach adenocarcinoma(1328;0.183)	13	1735	-		Hepatocellular(1079;0.137)	549					B7Z9E7|C6GIJ7|C6GIJ8|Q7LE07	Silent	SNP	ENST00000335312.3	37	c.1647C>T	CCDS32872.1																																																																																				0.657	PIP5K1C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000453432.2	NM_012398		14	64	0	0	0	1	0	14	64					A	3643243	G	A	3643243	2	1	45	1	0	0	0	0	0	0	0	1	11941	1372	48	3		3	PIP5K1C	19	3643243	Silent	SNP	G	TCGA-EJ-5495-01A-01D-1576-08		3643243	55485740	75	2461											
FBN3	84467	broad.mit.edu	37	chr19	8212299	8212299	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ccacctgccatgcacaacagGgccgaccaggccagcaggag	11	2	12	16	1	0	0	0	0	0	0	0	2	0	1	6	3	4	2	6	3	1	0			TCGA-EJ-5495-01A-01D-1576-08	TCGA-EJ-5495-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a06cd9-5e37-41b7-954f-173a2ab44179	695fd2d7-9426-45e1-81f0-79fbdf6ba0bf	g.chr19:8212299G>A	ENST00000600128.1	-	2	480	c.66C>T	c.(64-66)gcC>gcT	p.A22A	FBN3_ENST00000270509.2_Silent_p.A22A|FBN3_ENST00000601739.1_Silent_p.A22A			Q75N90	FBN3_HUMAN	fibrillin 3	22						proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)	p.A22A(1)		NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						TGCACAACAGGGCCGACCAGG	0.692																																						ENST00000600128.1																			1	Substitution - coding silent(1)	p.A22A(1)	prostate(1)	NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						c.(64-66)gcC>gcT		fibrillin 3							7	9	8					19																	8212299		2171	4256	6427	SO:0001819	synonymous_variant	84467					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent	g.chr19:8212299G>A		CCDS12196.1	19p13	2008-02-05							18794	protein-coding gene	gene with protein product		608529					Standard	NM_032447		Approved		uc002mjf.3	Q75N90		ENST00000600128.1:c.66C>T	19.37:g.8212299G>A						FBN3_ENST00000601739.1_Silent_p.A22A|FBN3_ENST00000270509.2_Silent_p.A22A	p.A22A			Q75N90	FBN3_HUMAN			2	480	-			22					Q75N91|Q75N92|Q75N93|Q86SJ5|Q96JP8	Silent	SNP	ENST00000600128.1	37	c.66C>T	CCDS12196.1																																																																																				0.692	FBN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461428.2	NM_032447		4	16	0	0	0	1	0	4	16					A	8212299	G	A	8212299	2	1	45	1	0	0	0	0	0	0	0	1	5704	1219	43	3		3	FBN3	19	8212299	Silent	SNP	G	TCGA-EJ-5495-01A-01D-1576-08	4569056	8212299	50916684	76	2462											
ZNF85	7639	broad.mit.edu	37	chr19	21132414	21132414	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cacacatgaggtaattcataCtggagagaaaccctacaaat	17	8	7	9	0	1	2	1	1	0	1	1	4	1	3	1	2	3	1	1	2	5	4	rs144723751	byFrequency	TCGA-EJ-5495-01A-01D-1576-08	TCGA-EJ-5495-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a06cd9-5e37-41b7-954f-173a2ab44179	695fd2d7-9426-45e1-81f0-79fbdf6ba0bf	g.chr19:21132414C>A	ENST00000328178.8	+	4	1207	c.1094C>A	c.(1093-1095)aCt>aAt	p.T365N	ZNF85_ENST00000345030.6_Missense_Mutation_p.T332N|ZNF85_ENST00000601023.1_Missense_Mutation_p.T306N	NM_001256173.1|NM_003429.4	NP_001243102.1|NP_003420.2	Q03923	ZNF85_HUMAN	zinc finger protein 85	365					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)	p.T365N(1)		breast(1)|central_nervous_system(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)	20						GTAATTCATACTGGAGAGAAA	0.358																																						ENST00000601023.1																			1	Substitution - Missense(1)	p.T365N(1)	prostate(1)	breast(1)|central_nervous_system(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)	20						c.(916-918)aCt>aAt		zinc finger protein 85							44	49	47					19																	21132414		2199	4294	6493	SO:0001583	missense	7639					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding	g.chr19:21132414C>A	U35376	CCDS32977.1, CCDS58657.1	19p12	2013-01-08	2006-05-12			ENSG00000105750		"Zinc fingers, C2H2-type", "-"	13160	protein-coding gene	gene with protein product		603899	"zinc finger protein 85 (HPF4, HTF1)"			2505992	Standard	NM_003429		Approved	HPF4, HTF1	uc031rjx.1	Q03923		ENST00000328178.8:c.1094C>A	19.37:g.21132414C>A	ENSP00000329793:p.Thr365Asn					ZNF85_ENST00000345030.6_Missense_Mutation_p.T332N|ZNF85_ENST00000328178.8_Missense_Mutation_p.T365N	p.T306N			Q03923	ZNF85_HUMAN			2	1563	+			365					B9ZVP4|Q6NVI0	Missense_Mutation	SNP	ENST00000328178.8	37	c.917C>A	CCDS32977.1	.	.	.	.	.	.	.	.	.	.	.	13.09	2.134643	0.37630	.	.	ENSG00000105750	ENST00000328178;ENST00000345030;ENST00000421385	T;T	0.26067	1.76;1.76	1.35	-0.22	0.13130	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.39332	0.1074	L	0.56280	1.765	0.80722	D	1	D;D;D	0.76494	0.999;0.982;0.98	D;D;D	0.79108	0.992;0.989;0.973	T	0.14952	-1.0454	9	0.72032	D	0.01	.	7.7203	0.28729	0.0:0.735:0.265:0.0	.	332;306;365	Q03923-2;Q49A12;Q03923	.;.;ZNF85_HUMAN	N	365;332;240	ENSP00000329793:T365N;ENSP00000342340:T332N	ENSP00000329793:T365N	T	+	2	0	ZNF85	20924254	0.146000	0.22672	0.001000	0.08648	0.005000	0.04900	0.682000	0.25335	-0.233000	0.09797	0.462000	0.41574	ACT		0.358	ZNF85-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463430.1	NM_003429		4	106	1	0	0.150653	1	0.155513	4	106					A	21132414	C	A	21132414	3	1	45	1	0	0	0	0	1	0	0	0	18190	565	20	5	1108	5	ZNF85	19	21132414	Missense_Mutation	SNP	C	TCGA-EJ-5495-01A-01D-1576-08	12920115	21132414	37996569	77	2463											
CLIP3	25999	broad.mit.edu	37	chr19	36508303	36508303	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcacttgtcacttgatgcaCttttttggctccaacgctgt	6	16	7	12	1	2	1	2	1	0	0	3	1	3	1	1	1	2	3	1	1	1	5			TCGA-EJ-5495-01A-01D-1576-08	TCGA-EJ-5495-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a06cd9-5e37-41b7-954f-173a2ab44179	695fd2d7-9426-45e1-81f0-79fbdf6ba0bf	g.chr19:36508303C>T	ENST00000360535.4	-	12	1728	c.1501G>A	c.(1501-1503)Gtg>Atg	p.V501M	CLIP3_ENST00000593074.1_Missense_Mutation_p.V501M|AC002116.7_ENST00000586962.1_RNA	NM_015526.2	NP_056341.1	Q96DZ5	CLIP3_HUMAN	CAP-GLY domain containing linker protein 3	501	GoLD.				chaperone-mediated protein transport (GO:0072321)|fat cell differentiation (GO:0045444)|membrane biogenesis (GO:0044091)|negative regulation of microtubule polymerization (GO:0031115)|peptidyl-L-cysteine S-palmitoylation (GO:0018230)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endocytosis (GO:0045807)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of glucose transport (GO:0010828)|positive regulation of protein phosphorylation (GO:0001934)	early endosome membrane (GO:0031901)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|recycling endosome membrane (GO:0055038)|trans-Golgi network (GO:0005802)|trans-Golgi network membrane (GO:0032588)	ganglioside binding (GO:0035594)|microtubule binding (GO:0008017)	p.V501M(1)		cervix(1)|endometrium(6)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	23	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			ACTTGATGCACTTTTTTGGCT	0.547																																						ENST00000360535.4																			1	Substitution - Missense(1)	p.V501M(1)	prostate(1)	cervix(1)|endometrium(6)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	23						c.(1501-1503)Gtg>Atg		CAP-GLY domain containing linker protein 3							214	168	183					19																	36508303		2203	4300	6503	SO:0001583	missense	25999				chaperone-mediated protein transport|fat cell differentiation|membrane biogenesis|negative regulation of microtubule polymerization|peptidyl-L-cysteine S-palmitoylation|positive regulation of apoptosis|positive regulation of endocytosis|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose transport|positive regulation of protein phosphorylation	early endosome membrane|Golgi stack|membrane raft|microsome|plasma membrane|recycling endosome membrane|trans-Golgi network membrane	ganglioside binding|microtubule binding	g.chr19:36508303C>T	AJ427922	CCDS12486.1	19q13.12	2014-08-12			ENSG00000105270	ENSG00000105270		"Ankyrin repeat domain containing"	24314	protein-coding gene	gene with protein product	"CLIP-170-related", "restin-like 1"	607382				11854307	Standard	NM_015526		Approved	CLIPR-59, RSNL1	uc002ocz.2	Q96DZ5	OTTHUMG00000181747	ENST00000360535.4:c.1501G>A	19.37:g.36508303C>T	ENSP00000353732:p.Val501Met					AC002116.7_ENST00000586962.1_RNA|CLIP3_ENST00000593074.1_Missense_Mutation_p.V501M	p.V501M	NM_015526.2	NP_056341.1	Q96DZ5	CLIP3_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.06)		12	1728	-	Esophageal squamous(110;0.162)		501			GoLD.		A8K0E4|Q8WWL1|Q96C99|Q9UFT7	Missense_Mutation	SNP	ENST00000360535.4	37	c.1501G>A	CCDS12486.1	.	.	.	.	.	.	.	.	.	.	C	20.5	3.998293	0.74818	.	.	ENSG00000105270	ENST00000360535;ENST00000544037;ENST00000534959	T	0.74842	-0.88	5.23	5.23	0.72850	Cytoskeleton-associated protein, Gly-rich domain (1);	0.134535	0.49305	D	0.000156	T	0.61813	0.2377	N	0.19112	0.55	0.53688	D	0.999979	P	0.44877	0.845	B	0.39379	0.298	T	0.65125	-0.6244	10	0.39692	T	0.17	-19.5298	16.6506	0.85188	0.0:1.0:0.0:0.0	.	501	Q96DZ5	CLIP3_HUMAN	M	501;383;477	ENSP00000353732:V501M	ENSP00000353732:V501M	V	-	1	0	CLIP3	41200143	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	3.443000	0.52907	2.607000	0.88179	0.655000	0.94253	GTG		0.547	CLIP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457426.1	NM_015526		3	79	0	0	0	1	0	3	79					T	36508303	C	T	36508303	3	4	45	1	0	0	0	0	1	0	0	0	3534	565	20	3	154	3	CLIP3	19	36508303	Missense_Mutation	SNP	C	TCGA-EJ-5495-01A-01D-1576-08	15375889	36508303	22620680	78	2464											
BCKDHA	593	broad.mit.edu	37	chr19	41903833	41903833	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctggggctcggggactggCtagatctgtgagtacctggg	5	9	18	9	1	1	2	0	1	1	1	2	3	1	3	2	6	1	3	2	6	2	2			TCGA-EJ-5495-01A-01D-1576-08	TCGA-EJ-5495-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a06cd9-5e37-41b7-954f-173a2ab44179	695fd2d7-9426-45e1-81f0-79fbdf6ba0bf	g.chr19:41903833C>A	ENST00000269980.2	+	1	469	c.101C>A	c.(100-102)gCt>gAt	p.A34D	BCKDHA_ENST00000457836.2_Intron|BCKDHA_ENST00000595085.1_Intron|CTC-435M10.10_ENST00000598988.1_RNA|CTC-435M10.3_ENST00000604424.1_Intron|EXOSC5_ENST00000596905.1_5'Flank|EXOSC5_ENST00000221233.4_5'Flank|CTC-435M10.3_ENST00000540732.1_Intron	NM_000709.3|NM_001164783.1	NP_000700.1|NP_001158255.1	P12694	ODBA_HUMAN	branched chain keto acid dehydrogenase E1, alpha polypeptide	34					branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|response to cAMP (GO:0051591)|response to glucocorticoid (GO:0051384)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)	mitochondrial alpha-ketoglutarate dehydrogenase complex (GO:0005947)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity (GO:0003863)|alpha-ketoacid dehydrogenase activity (GO:0003826)|carboxy-lyase activity (GO:0016831)|metal ion binding (GO:0046872)	p.A34D(1)		central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)	10						CGGGGACTGGCTAGATCTGTG	0.602																																						ENST00000269980.2																			1	Substitution - Missense(1)	p.A34D(1)	prostate(1)	central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)	10						c.(100-102)gCt>gAt		branched chain keto acid dehydrogenase E1, alpha polypeptide							19	21	20					19																	41903833		2202	4297	6499	SO:0001583	missense	593				branched chain family amino acid catabolic process	mitochondrial alpha-ketoglutarate dehydrogenase complex	3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity|alpha-ketoacid dehydrogenase activity|carboxy-lyase activity|metal ion binding|protein binding	g.chr19:41903833C>A	J04474	CCDS12581.1	19q13.1-q13.2	2008-07-09	2005-11-29		ENSG00000248098	ENSG00000248098			986	protein-coding gene	gene with protein product	"maple syrup urine disease"	608348	"branched chain keto acid dehydrogenase E1, alpha polypeptide (maple syrup urine disease)", "2-oxoisovalerate dehydrogenase (lipoamide)"	OVD1A			Standard	NM_000709		Approved	MSU	uc002oqq.3	P12694	OTTHUMG00000168128	ENST00000269980.2:c.101C>A	19.37:g.41903833C>A	ENSP00000269980:p.Ala34Asp					BCKDHA_ENST00000595085.1_Intron|BCKDHA_ENST00000457836.2_Intron|CTC-435M10.3_ENST00000540732.1_Intron	p.A34D	NM_000709.3|NM_001164783.1	NP_000700.1|NP_001158255.1	P12694	ODBA_HUMAN			1	469	+			34					B4DP47|E7EW46|Q16034|Q16472	Missense_Mutation	SNP	ENST00000269980.2	37	c.101C>A	CCDS12581.1	.	.	.	.	.	.	.	.	.	.	C	14.28	2.487951	0.44249	.	.	ENSG00000248098	ENST00000269980;ENST00000542943;ENST00000378196	D;D	0.98044	-4.66;-4.68	4.98	2.81	0.32909	.	.	.	.	.	D	0.91449	0.7301	N	0.08118	0	0.39075	D	0.960785	B;B	0.19200	0.034;0.008	B;B	0.20767	0.031;0.006	D	0.85914	0.1442	9	0.33940	T	0.23	.	6.1107	0.20100	0.1861:0.7188:0.0:0.0951	.	34;34	Q59EI3;P12694	.;ODBA_HUMAN	D	34	ENSP00000269980:A34D;ENSP00000440345:A34D	ENSP00000269980:A34D	A	+	2	0	BCKDHA	46595673	0.932000	0.31603	0.438000	0.26821	0.869000	0.49853	1.817000	0.39002	0.774000	0.33427	0.643000	0.83706	GCT		0.602	BCKDHA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398313.3	NM_000709		6	57	1	0	0.0215528	1	0.0226127	6	57					A	41903833	C	A	41903833	3	1	45	1	0	0	0	0	1	0	0	0	1359	797	28	5	103	5	BCKDHA	19	41903833	Missense_Mutation	SNP	C	TCGA-EJ-5495-01A-01D-1576-08	5395530	41903833	17225150	79	2465											
DMRTC2	63946	broad.mit.edu	37	chr19	42354650	42354650	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccctcagagtggcagctgcaGcaagaggcagctgaagccct	10	5	13	13	0	1	3	1	1	0	2	1	3	1	3	2	2	5	6	2	2	2	0			TCGA-EJ-5495-01A-01D-1576-08	TCGA-EJ-5495-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a06cd9-5e37-41b7-954f-173a2ab44179	695fd2d7-9426-45e1-81f0-79fbdf6ba0bf	g.chr19:42354650G>C	ENST00000269945.3	+	8	924	c.873G>C	c.(871-873)caG>caC	p.Q291H	DMRTC2_ENST00000596827.1_Missense_Mutation_p.Q342H	NM_001040283.1	NP_001035373.1	Q8IXT2	DMRTD_HUMAN	DMRT-like family C2	291	Pro-rich.				male meiosis I (GO:0007141)|positive regulation of histone H3-K9 dimethylation (GO:1900111)|positive regulation of histone H3-K9 trimethylation (GO:1900114)|sex differentiation (GO:0007548)|spermatid nucleus elongation (GO:0007290)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|XY body (GO:0001741)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.Q291H(1)		endometrium(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	10						GGCAGCTGCAGCAAGAGGCAG	0.632																																						ENST00000269945.3																			1	Substitution - Missense(1)	p.Q291H(1)	prostate(1)	endometrium(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	10						c.(871-873)caG>caC		DMRT-like family C2							38	43	42					19																	42354650		2203	4300	6503	SO:0001583	missense	63946				cell differentiation|sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity	g.chr19:42354650G>C	AJ291669	CCDS33034.1	19q13.2	2008-07-16				ENSG00000142025			13911	protein-coding gene	gene with protein product		614806				11863363	Standard	NM_001040283		Approved		uc002ors.3	Q8IXT2		ENST00000269945.3:c.873G>C	19.37:g.42354650G>C	ENSP00000269945:p.Gln291His					DMRTC2_ENST00000596827.1_Missense_Mutation_p.Q342H	p.Q291H	NM_001040283.1	NP_001035373.1	Q8IXT2	DMRTD_HUMAN			8	924	+			291			Pro-rich.		Q8N6Q2|Q96M39|Q96SD4	Missense_Mutation	SNP	ENST00000269945.3	37	c.873G>C	CCDS33034.1	.	.	.	.	.	.	.	.	.	.	G	19.65	3.867564	0.72065	.	.	ENSG00000142025	ENST00000269945	T	0.34072	1.38	4.91	4.91	0.64330	.	1.769320	0.03244	N	0.180886	T	0.63082	0.2481	M	0.63428	1.95	0.33174	D	0.548676	D;D	0.71674	0.998;0.995	D;D	0.79784	0.993;0.99	T	0.48222	-0.9054	10	0.62326	D	0.03	-8.8974	13.9691	0.64228	0.0:0.0:1.0:0.0	.	342;291	B4DX56;Q8IXT2	.;DMRTD_HUMAN	H	291	ENSP00000269945:Q291H	ENSP00000269945:Q291H	Q	+	3	2	DMRTC2	47046490	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	1.647000	0.37260	2.467000	0.83353	0.591000	0.81541	CAG		0.632	DMRTC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463045.1	NM_001040283		8	94	0	0	0	1	0	8	94					C	42354650	G	C	42354650	3	2	45	1	0	0	0	0	1	0	0	0	4591	962	34	5	899	5	DMRTC2	19	42354650	Missense_Mutation	SNP	G	TCGA-EJ-5495-01A-01D-1576-08	450817	42354650	16774333	80	2466											
ATP1A3	478	broad.mit.edu	37	chr19	42492276	42492276	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggccaggatctcctgggcttTgctgtgggtcaaaccctgag	6	10	14	11	0	2	1	1	1	1	0	3	2	2	2	3	4	2	2	3	4	1	1			TCGA-EJ-5495-01A-01D-1576-08	TCGA-EJ-5495-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a06cd9-5e37-41b7-954f-173a2ab44179	695fd2d7-9426-45e1-81f0-79fbdf6ba0bf	g.chr19:42492276T>C	ENST00000302102.5	-	4	319	c.169A>G	c.(169-171)Aaa>Gaa	p.K57E	ATP1A3_ENST00000602133.1_Missense_Mutation_p.K27E|ATP1A3_ENST00000545399.1_Missense_Mutation_p.K70E|ATP1A3_ENST00000543770.1_Missense_Mutation_p.K68E|ATP1A3_ENST00000468774.2_5'UTR	NM_152296.4	NP_689509.1	P13637	AT1A3_HUMAN	ATPase, Na+/K+ transporting, alpha 3 polypeptide	57					adult locomotory behavior (GO:0008344)|ATP biosynthetic process (GO:0006754)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular potassium ion homeostasis (GO:0030007)|cellular response to steroid hormone stimulus (GO:0071383)|cellular sodium ion homeostasis (GO:0006883)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|memory (GO:0007613)|potassium ion import (GO:0010107)|response to drug (GO:0042493)|sodium ion export from cell (GO:0036376)|transmembrane transport (GO:0055085)|visual learning (GO:0008542)	axon (GO:0030424)|dendritic spine head (GO:0044327)|dendritic spine neck (GO:0044326)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|myelin sheath (GO:0043209)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sodium:potassium-exchanging ATPase complex (GO:0005890)|synapse (GO:0045202)|vesicle (GO:0031982)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|metal ion binding (GO:0046872)|sodium:potassium-exchanging ATPase activity (GO:0005391)|steroid hormone binding (GO:1990239)	p.K57E(1)		NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(19)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	52						TCCTGGGCTTTGCTGTGGGTC	0.627																																						ENST00000545399.1																			1	Substitution - Missense(1)	p.K57E(1)	prostate(1)	NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(19)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	52						c.(208-210)Aaa>Gaa		ATPase, Na+/K+ transporting, alpha 3 polypeptide							86	88	88					19																	42492276		2203	4300	6503	SO:0001583	missense	478				ATP biosynthetic process	endoplasmic reticulum|Golgi apparatus	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity	g.chr19:42492276T>C		CCDS12594.1, CCDS58663.1, CCDS58664.1	19q13.2	2012-10-22			ENSG00000105409	ENSG00000105409	3.6.3.9	"ATPases / P-type"	801	protein-coding gene	gene with protein product	"sodium/potassium-transporting ATPase subunit alpha-3", "sodium pump subunit alpha-3", "sodium-potassium ATPase catalytic subunit alpha-3"	182350	"dystonia 12"	DYT12		17282997	Standard	NM_152296		Approved		uc002osh.4	P13637	OTTHUMG00000137384	ENST00000302102.5:c.169A>G	19.37:g.42492276T>C	ENSP00000302397:p.Lys57Glu					ATP1A3_ENST00000543770.1_Missense_Mutation_p.K68E|ATP1A3_ENST00000602133.1_Missense_Mutation_p.K27E|ATP1A3_ENST00000302102.5_Missense_Mutation_p.K57E|ATP1A3_ENST00000468774.2_5'UTR	p.K70E	NM_001256214.1	NP_001243143.1	P13637	AT1A3_HUMAN			4	361	-			57					B7Z2T0|B7Z401|F5H6J6|Q16732|Q16735|Q969K5	Missense_Mutation	SNP	ENST00000302102.5	37	c.208A>G	CCDS12594.1	.	.	.	.	.	.	.	.	.	.	T	12.58	1.979907	0.34942	.	.	ENSG00000105409	ENST00000302102;ENST00000441343;ENST00000545399;ENST00000368080;ENST00000543770;ENST00000448429	D;D;D;D	0.84442	-1.85;-1.85;-1.85;-1.85	4.52	3.46	0.39613	ATPase, P-type cation-transporter, N-terminal (2);	0.053752	0.64402	D	0.000003	T	0.62962	0.2471	N	0.01789	-0.72	0.40538	D	0.980996	B;B;B;B	0.13594	0.0;0.0;0.008;0.0	B;B;B;B	0.21360	0.002;0.003;0.034;0.005	T	0.52419	-0.8578	10	0.17832	T	0.49	.	9.4666	0.38817	0.0:0.0:0.1792:0.8208	.	70;68;57;57	B7Z2T0;F5H6J6;E9PC51;P13637	.;.;.;AT1A3_HUMAN	E	57;57;70;27;68;70	ENSP00000302397:K57E;ENSP00000411503:K57E;ENSP00000444688:K70E;ENSP00000437577:K68E	ENSP00000302397:K57E	K	-	1	0	ATP1A3	47184116	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	2.529000	0.45632	0.662000	0.31006	0.402000	0.26972	AAA		0.627	ATP1A3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000268107.1	NM_152296		20	113	0	0	0	1	0	20	113					C	42492276	T	C	42492276	3	2	45	1	0	0	0	0	1	0	0	0	1130	1821	63	4	2952	4	ATP1A3	19	42492276	Missense_Mutation	SNP	T	TCGA-EJ-5495-01A-01D-1576-08	137626	42492276	16636707	81	2467											
GLTSCR1	29998	broad.mit.edu	37	chr19	48176998	48176998	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacccacaggccctcaatgaCttcttgcatggatccgagaa	11	8	9	13	1	2	2	1	1	1	1	3	5	3	3	3	2	1	1	3	2	2	2			TCGA-EJ-5495-01A-01D-1576-08	TCGA-EJ-5495-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a06cd9-5e37-41b7-954f-173a2ab44179	695fd2d7-9426-45e1-81f0-79fbdf6ba0bf	g.chr19:48176998C>A	ENST00000396720.3	+	4	257	c.63C>A	c.(61-63)gaC>gaA	p.D21E	CTD-2571L23.8_ENST00000599924.1_lincRNA	NM_015711.3	NP_056526.3	Q9NZM4	GSCR1_HUMAN	glioma tumor suppressor candidate region gene 1	21								p.D21E(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|pancreas(3)|prostate(4)|skin(2)	20		all_cancers(25;1.8e-07)|all_lung(116;5.73e-06)|Lung NSC(112;9.69e-06)|all_epithelial(76;2.42e-05)|all_neural(266;0.0332)|Ovarian(192;0.086)		all cancers(93;0.000358)|OV - Ovarian serous cystadenocarcinoma(262;0.000576)|Epithelial(262;0.0212)|GBM - Glioblastoma multiforme(486;0.0355)		CCCTCAATGACTTCTTGCATG	0.592																																						ENST00000396720.3																			1	Substitution - Missense(1)	p.D21E(1)	prostate(1)	breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|pancreas(3)|prostate(4)|skin(2)	20						c.(61-63)gaC>gaA		glioma tumor suppressor candidate region gene 1							102	95	97					19																	48176998		1568	3582	5150	SO:0001583	missense	29998						protein binding	g.chr19:48176998C>A	AF182077	CCDS46134.1	19q13.3	2012-11-29			ENSG00000063169	ENSG00000063169			4332	protein-coding gene	gene with protein product		605690				10708517	Standard	NM_015711		Approved		uc002phh.4	Q9NZM4		ENST00000396720.3:c.63C>A	19.37:g.48176998C>A	ENSP00000379946:p.Asp21Glu					CTD-2571L23.8_ENST00000599924.1_lincRNA	p.D21E	NM_015711.3	NP_056526.3	Q9NZM4	GSCR1_HUMAN		all cancers(93;0.000358)|OV - Ovarian serous cystadenocarcinoma(262;0.000576)|Epithelial(262;0.0212)|GBM - Glioblastoma multiforme(486;0.0355)	4	257	+		all_cancers(25;1.8e-07)|all_lung(116;5.73e-06)|Lung NSC(112;9.69e-06)|all_epithelial(76;2.42e-05)|all_neural(266;0.0332)|Ovarian(192;0.086)	21					A8MW01	Missense_Mutation	SNP	ENST00000396720.3	37	c.63C>A	CCDS46134.1	.	.	.	.	.	.	.	.	.	.	c	10.82	1.459259	0.26248	.	.	ENSG00000063169	ENST00000396720	D	0.81579	-1.51	3.72	1.32	0.21799	.	.	.	.	.	T	0.75547	0.3864	L	0.36672	1.1	0.31021	N	0.7181	D	0.67145	0.996	P	0.59703	0.862	T	0.68876	-0.5293	9	0.02654	T	1	.	6.2586	0.20887	0.0:0.5254:0.0:0.4746	.	21	Q9NZM4	GSCR1_HUMAN	E	21	ENSP00000379946:D21E	ENSP00000379946:D21E	D	+	3	2	GLTSCR1	52868810	0.998000	0.40836	0.997000	0.53966	0.954000	0.61252	0.441000	0.21611	0.217000	0.20800	0.556000	0.70494	GAC		0.592	GLTSCR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465846.1	NM_015711		28	132	1	0	7.01153e-11	1	8.38763e-11	28	132					A	48176998	C	A	48176998	3	1	45	1	0	0	0	0	1	0	0	0	6474	564	20	5	69	5	GLTSCR1	19	48176998	Missense_Mutation	SNP	C	TCGA-EJ-5495-01A-01D-1576-08	5684722	48176998	10951985	82	2468											
ZNF616	90317	broad.mit.edu	37	chr19	52619794	52619794	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atttgtaaggtttctctgtaGtatgtatcctctgatgatta	9	19	8	5	0	2	2	0	2	2	0	4	2	3	2	1	1	0	5	1	1	5	7			TCGA-EJ-5495-01A-01D-1576-08	TCGA-EJ-5495-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a06cd9-5e37-41b7-954f-173a2ab44179	695fd2d7-9426-45e1-81f0-79fbdf6ba0bf	g.chr19:52619794G>C	ENST00000600228.1	-	4	884	c.623C>G	c.(622-624)aCt>aGt	p.T208S	ZNF616_ENST00000330123.5_3'UTR	NM_178523.3	NP_848618.2	Q08AN1	ZN616_HUMAN	zinc finger protein 616	208					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.T208S(1)		breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48				GBM - Glioblastoma multiforme(134;0.00392)|OV - Ovarian serous cystadenocarcinoma(262;0.0189)		TTTCTCTGTAGTATGTATCCT	0.393																																						ENST00000600228.1																			1	Substitution - Missense(1)	p.T208S(1)	prostate(1)	breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						c.(622-624)aCt>aGt		zinc finger protein 616							149	144	146					19																	52619794		2203	4300	6503	SO:0001583	missense	90317				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52619794G>C	AK092266	CCDS33090.1	19q13.41	2013-01-08				ENSG00000204611		"Zinc fingers, C2H2-type", "-"	28062	protein-coding gene	gene with protein product							Standard	NM_178523		Approved	MGC45556	uc002pym.3	Q08AN1		ENST00000600228.1:c.623C>G	19.37:g.52619794G>C	ENSP00000471000:p.Thr208Ser					ZNF616_ENST00000330123.5_3'UTR	p.T208S	NM_178523.3	NP_848618.2	Q08AN1	ZN616_HUMAN		GBM - Glioblastoma multiforme(134;0.00392)|OV - Ovarian serous cystadenocarcinoma(262;0.0189)	4	884	-			208					B3KRV1|Q0P658|Q658V7	Missense_Mutation	SNP	ENST00000600228.1	37	c.623C>G	CCDS33090.1	.	.	.	.	.	.	.	.	.	.	G	9.770	1.172455	0.21704	.	.	ENSG00000204611	ENST00000330123	.	.	.	0.825	-1.65	0.08291	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.39886	0.1095	L	0.33245	0.995	0.09310	N	1	B	0.27559	0.181	P	0.46389	0.515	T	0.56189	-0.8020	8	0.44086	T	0.13	.	4.4266	0.11505	0.2097:0.2277:0.5625:0.0	.	208	Q08AN1	ZN616_HUMAN	S	208	.	ENSP00000328722:T208S	T	-	2	0	ZNF616	57311606	0.000000	0.05858	0.000000	0.03702	0.610000	0.37248	0.678000	0.25277	-0.905000	0.03871	0.305000	0.20034	ACT		0.393	ZNF616-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462451.1	XM_030892		6	294	0	0	0	1	0	6	294					C	52619794	G	C	52619794	3	2	45	1	0	0	0	0	1	0	0	0	18038	1029	36	5	1726	5	ZNF616	19	52619794	Missense_Mutation	SNP	G	TCGA-EJ-5495-01A-01D-1576-08	4442796	52619794	6509189	83	2469											
ZNF17	7565	broad.mit.edu	37	chr19	57931923	57931923	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atcagaaagttcacactggaGaaaggcctttttattgctgt	12	13	9	7	0	2	2	2	0	0	2	2	3	2	2	1	2	1	2	1	2	3	5			TCGA-EJ-5495-01A-01D-1576-08	TCGA-EJ-5495-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a06cd9-5e37-41b7-954f-173a2ab44179	695fd2d7-9426-45e1-81f0-79fbdf6ba0bf	g.chr19:57931923G>A	ENST00000601808.1	+	3	1276	c.1063G>A	c.(1063-1065)Gaa>Aaa	p.E355K	ZNF17_ENST00000307658.7_Missense_Mutation_p.E357K|AC004076.7_ENST00000597410.1_Intron	NM_006959.2	NP_008890.2	P17021	ZNF17_HUMAN	zinc finger protein 17	355					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.E355K(1)		central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.0234)|GBM - Glioblastoma multiforme(193;0.000426)|Lung(386;0.176)		TCACACTGGAGAAAGGCCTTT	0.388																																					Melanoma(149;1637 1853 29914 42869 44988)	ENST00000307658.7																			1	Substitution - Missense(1)	p.E355K(1)	prostate(1)	central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						c.(1069-1071)Gaa>Aaa		zinc finger protein 17							83	87	86					19																	57931923		2189	4297	6486	SO:0001583	missense	7565				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57931923G>A	X52341	CCDS42636.1	19q13.43	2013-01-08	2006-05-10			ENSG00000186272		"Zinc fingers, C2H2-type", "-"	12958	protein-coding gene	gene with protein product			"zinc finger protein 17 (HPF3, KOX 10)"			2115127, 2014798	Standard	NM_006959		Approved	HPF3, KOX10, KIAA1947, FLJ40864, FLJ46058, FLJ46615	uc002qoo.1	P17021		ENST00000601808.1:c.1063G>A	19.37:g.57931923G>A	ENSP00000471905:p.Glu355Lys					ZNF17_ENST00000601808.1_Missense_Mutation_p.E355K|AC004076.7_ENST00000597410.1_Intron	p.E357K			P17021	ZNF17_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.0234)|GBM - Glioblastoma multiforme(193;0.000426)|Lung(386;0.176)	4	1332	+		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)	355					B3KXU2|B3KY20|Q8N7M1|Q8N893|Q8TF54	Missense_Mutation	SNP	ENST00000601808.1	37	c.1069G>A	CCDS42636.1	.	.	.	.	.	.	.	.	.	.	G	15.49	2.848089	0.51164	.	.	ENSG00000186272	ENST00000307658	.	.	.	1.55	-2.86	0.05717	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.47875	0.1469	M	0.68593	2.085	0.09310	N	1	D;P	0.69078	0.997;0.902	P;B	0.59012	0.85;0.446	T	0.40098	-0.9581	8	0.62326	D	0.03	.	2.2337	0.04002	0.1271:0.3355:0.3648:0.1726	.	357;355	P17021-2;P17021	.;ZNF17_HUMAN	K	355	.	ENSP00000302455:E355K	E	+	1	0	ZNF17	62623735	0.008000	0.16893	0.000000	0.03702	0.924000	0.55760	1.284000	0.33249	-0.686000	0.05170	0.585000	0.79938	GAA		0.388	ZNF17-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000466384.1	NM_006959		42	187	0	0	0	1	0	42	187					A	57931923	G	A	57931923	3	1	45	1	0	0	0	0	1	0	0	0	17740	943	33	3	1073	3	ZNF17	19	57931923	Missense_Mutation	SNP	G	TCGA-EJ-5495-01A-01D-1576-08	5312129	57931923	1197060	84	2470											
STK35	140901	broad.mit.edu	37	chr20	2083973	2083973	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gagtcacggcaacaagagctCgcagctttacctgcgcctgg	9	7	12	13	3	1	1	1	0	0	1	2	2	1	1	2	2	5	4	2	2	3	2			TCGA-EJ-5495-01A-01D-1576-08	TCGA-EJ-5495-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a06cd9-5e37-41b7-954f-173a2ab44179	695fd2d7-9426-45e1-81f0-79fbdf6ba0bf	g.chr20:2083973C>T	ENST00000381482.3	+	2	1125	c.854C>T	c.(853-855)tCg>tTg	p.S285L	STK35_ENST00000400064.3_Missense_Mutation_p.S113L|STK35_ENST00000246032.3_Missense_Mutation_p.S152L			Q8TDR2	STK35_HUMAN	serine/threonine kinase 35	285	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.					cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.S285L(1)		large_intestine(2)|liver(2)|lung(6)|ovary(1)|prostate(2)	13						AACAAGAGCTCGCAGCTTTAC	0.647																																						ENST00000381482.3																			1	Substitution - Missense(1)	p.S285L(1)	prostate(1)	large_intestine(2)|liver(2)|lung(6)|ovary(1)|prostate(2)	13						c.(853-855)tCg>tTg		serine/threonine kinase 35							34	30	31					20																	2083973		2203	4300	6503	SO:0001583	missense	140901					cytoplasm|nucleolus	ATP binding|protein serine/threonine kinase activity	g.chr20:2083973C>T	AL359916	CCDS13024.1, CCDS13024.2	20p13	2008-07-02			ENSG00000125834	ENSG00000125834			16254	protein-coding gene	gene with protein product	"CLP-36 interacting kinase"	609370				11973348	Standard	NM_080836		Approved	bA550O8.2, CLIK1	uc002wfw.4	Q8TDR2	OTTHUMG00000031688	ENST00000381482.3:c.854C>T	20.37:g.2083973C>T	ENSP00000370891:p.Ser285Leu					STK35_ENST00000246032.3_Missense_Mutation_p.S152L|STK35_ENST00000400064.3_Missense_Mutation_p.S113L	p.S285L			Q8TDR2	STK35_HUMAN			2	1125	+			285			Protein kinase.		B2RBM3|C7ENV8|Q2NKW6|Q5T3R1|Q5T3R2|Q96AB4|Q9BZ06	Missense_Mutation	SNP	ENST00000381482.3	37	c.854C>T	CCDS13024.2	.	.	.	.	.	.	.	.	.	.	C	36	5.672051	0.96754	.	.	ENSG00000125834	ENST00000381482;ENST00000246032;ENST00000400064	T;T;T	0.71817	-0.3;-0.6;-0.31	4.35	4.35	0.52113	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.164451	0.40385	N	0.001105	T	0.72882	0.3516	N	0.25094	0.71	0.45194	D	0.998201	D;D	0.71674	0.998;0.996	D;P	0.64506	0.926;0.906	T	0.76479	-0.2944	10	0.72032	D	0.01	-6.67	15.1936	0.73067	0.0:1.0:0.0:0.0	.	113;285	B4DYV9;Q8TDR2	.;STK35_HUMAN	L	285;152;113	ENSP00000370891:S285L;ENSP00000246032:S152L;ENSP00000382937:S113L	ENSP00000246032:S152L	S	+	2	0	STK35	2031973	0.065000	0.20965	0.918000	0.36340	0.980000	0.70556	1.997000	0.40786	2.702000	0.92279	0.655000	0.94253	TCG		0.647	STK35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077574.3	NM_080836		6	63	0	0	0	1	0	6	63					T	2083973	C	T	2083973	3	4	45	1	0	0	0	0	1	0	0	0	15300	893	31	2	860	2	STK35	20	2083973	Missense_Mutation	SNP	C	TCGA-EJ-5495-01A-01D-1576-08		2083973	60941547	85	2471											
ZNF341	84905	broad.mit.edu	37	chr20	32379198	32379198	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgcggtgggcgcggaaactGagctggtggtacctggacac	7	7	18	9	3	0	1	0	1	0	0	0	3	0	3	1	6	4	2	1	6	2	1			TCGA-EJ-5495-01A-01D-1576-08	TCGA-EJ-5495-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a06cd9-5e37-41b7-954f-173a2ab44179	695fd2d7-9426-45e1-81f0-79fbdf6ba0bf	g.chr20:32379198G>T	ENST00000375200.1	+	15	2805	c.2440G>T	c.(2440-2442)Gag>Tag	p.E814*	ZNF341_ENST00000342427.2_Nonsense_Mutation_p.E807*|RP4-553F4.6_ENST00000443171.1_RNA|RP4-553F4.6_ENST00000423074.1_RNA|RP4-553F4.6_ENST00000439444.1_RNA	NM_001282933.1	NP_001269862.1	Q9BYN7	ZN341_HUMAN	zinc finger protein 341	814					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.E807*(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|skin(1)|urinary_tract(3)	31						CGCGGAAACTGAGCTGGTGGT	0.711																																						ENST00000375200.1																			1	Substitution - Nonsense(1)	p.E807*(1)	prostate(1)	NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|skin(1)|urinary_tract(3)	31						c.(2440-2442)Gag>Tag		zinc finger protein 341							39	36	37					20																	32379198		2202	4299	6501	SO:0001587	stop_gained	84905				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr20:32379198G>T	AK027550	CCDS13227.1, CCDS74719.1	20q11.22	2013-01-08			ENSG00000131061	ENSG00000131061		"Zinc fingers, C2H2-type"	15992	protein-coding gene	gene with protein product							Standard	NM_001282933		Approved	dJ553F4.3	uc002wzx.3	Q9BYN7	OTTHUMG00000032275	ENST00000375200.1:c.2440G>T	20.37:g.32379198G>T	ENSP00000364346:p.Glu814*					RP4-553F4.6_ENST00000423074.1_RNA|RP4-553F4.6_ENST00000439444.1_RNA|RP4-553F4.6_ENST00000443171.1_RNA|ZNF341_ENST00000342427.2_Nonsense_Mutation_p.E807*	p.E814*			Q9BYN7	ZN341_HUMAN			15	2805	+			814					A2RUF4|B2RXE5|B7ZM09|Q5JXM8|Q96ST5	Nonsense_Mutation	SNP	ENST00000375200.1	37	c.2440G>T		.	.	.	.	.	.	.	.	.	.	G	39	7.592672	0.98378	.	.	ENSG00000131061	ENST00000342427;ENST00000375200	.	.	.	5.28	4.26	0.50523	.	0.170285	0.40640	N	0.001052	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.12103	T	0.63	-27.0756	15.662	0.77193	0.0:0.1373:0.8627:0.0	.	.	.	.	X	807;814	.	ENSP00000344308:E807X	E	+	1	0	ZNF341	31842859	1.000000	0.71417	0.959000	0.39883	0.012000	0.07955	5.013000	0.64023	2.639000	0.89480	0.491000	0.48974	GAG		0.711	ZNF341-201	KNOWN	basic	protein_coding	protein_coding				7	69	1	0	0.00307968	1	0.0033126	7	69					T	32379198	G	T	32379198	4	4	45	1	0	0	0	0	0	1	0	0	17854	1291	45	5	2477	5	ZNF341	20	32379198	Nonsense_Mutation	SNP	G	TCGA-EJ-5495-01A-01D-1576-08	30295225	32379198	30646322	86	2472											
CYYR1	116159	broad.mit.edu	37	chr21	27840880	27840880	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cgctgtgctggaccctgtggGgtgggggagtatggaggagg	5	8	22	6	1	0	0	0	0	0	0	0	4	0	4	1	8	1	3	1	8	1	1			TCGA-EJ-5495-01A-01D-1576-08	TCGA-EJ-5495-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a06cd9-5e37-41b7-954f-173a2ab44179	695fd2d7-9426-45e1-81f0-79fbdf6ba0bf	g.chr21:27840880G>T	ENST00000299340.4	-	4	748	c.405C>A	c.(403-405)acC>acA	p.T135T	AP001597.1_ENST00000357401.3_RNA|AP001596.6_ENST00000429340.1_RNA|AP001596.6_ENST00000421771.1_RNA|AP001596.6_ENST00000444306.1_RNA|CYYR1_ENST00000435845.2_3'UTR|AP001597.1_ENST00000414486.1_RNA	NM_052954.2	NP_443186.1	Q96J86	CYYR1_HUMAN	cysteine/tyrosine-rich 1	135						integral component of membrane (GO:0016021)		p.T135T(1)		large_intestine(2)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	15						GACCCTGTGGGGTGGGGGAGT	0.532																																						ENST00000299340.4																			1	Substitution - coding silent(1)	p.T135T(1)	prostate(1)	large_intestine(2)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	15						c.(403-405)acC>acA		cysteine/tyrosine-rich 1							96	83	87					21																	27840880		2203	4300	6503	SO:0001819	synonymous_variant	116159					integral to membrane		g.chr21:27840880G>T	AY061853	CCDS13578.1	21q21.2	2014-07-04	2005-07-24		ENSG00000166265	ENSG00000166265			16274	protein-coding gene	gene with protein product			"cysteine and tyrosine-rich 1"	C21orf95		12036297, 12062809, 24981926	Standard	NM_052954		Approved		uc002ymd.3	Q96J86	OTTHUMG00000078689	ENST00000299340.4:c.405C>A	21.37:g.27840880G>T						AP001596.6_ENST00000429340.1_RNA|AP001597.1_ENST00000357401.3_RNA|AP001597.1_ENST00000414486.1_RNA|AP001596.6_ENST00000421771.1_RNA|CYYR1_ENST00000435845.2_3'UTR|AP001596.6_ENST00000444306.1_RNA	p.T135T	NM_052954.2	NP_443186.1	Q96J86	CYYR1_HUMAN			4	748	-			135					A0A059TD09|A8MTU9|B2R845|Q53ER3|Q5JPD0|Q96NV7|R9QAJ4|W8CQB3	Silent	SNP	ENST00000299340.4	37	c.405C>A	CCDS13578.1																																																																																				0.532	CYYR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171654.2	NM_052954		20	101	1	0	1.2644e-06	1	1.44503e-06	20	101					T	27840880	G	T	27840880	2	4	45	1	0	0	0	0	0	0	0	1	4211	1219	43	5		5	CYYR1	21	27840880	Silent	SNP	G	TCGA-EJ-5495-01A-01D-1576-08		27840880	20289015	87	2473											
DSCAM	1826	broad.mit.edu	37	chr21	41424003	41424003	+	Frame_Shift_Del	DEL	A	A	-																															ttagctgcctctccaaagtcAgcatccgtcaacagaaccgt																										TCGA-EJ-5495-01A-01D-1576-08	TCGA-EJ-5495-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a06cd9-5e37-41b7-954f-173a2ab44179	695fd2d7-9426-45e1-81f0-79fbdf6ba0bf	g.chr21:41424003delA	ENST00000400454.1	-	30	5544	c.5067delT	c.(5065-5067)gctfs	p.A1689fs		NM_001271534.1|NM_001389.3	NP_001258463.1|NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	1689					cell adhesion (GO:0007155)|dendrite morphogenesis (GO:0048813)|dendrite self-avoidance (GO:0070593)|locomotory behavior (GO:0007626)|negative regulation of cell adhesion (GO:0007162)|nervous system development (GO:0007399)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of phosphorylation (GO:0042327)|post-embryonic retina morphogenesis in camera-type eye (GO:0060060)	axon (GO:0030424)|extracellular region (GO:0005576)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				CTCCAAAGTCAGCATCCGTCA	0.532																																					Melanoma(134;970 1778 1785 21664 32388)	ENST00000400454.1																			0				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142						c.(5065-5067)gcfs		Down syndrome cell adhesion molecule							89	91	90					21																	41424003		2044	4196	6240	SO:0001589	frameshift_variant	1826				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding	g.chr21:41424003delA	AF023449	CCDS42929.1	21q22.2-q22.3	2013-02-11			ENSG00000171587	ENSG00000171587		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	3039	protein-coding gene	gene with protein product		602523				9426258	Standard	NM_001271534		Approved	CHD2-42, CHD2-52	uc002yyq.1	O60469	OTTHUMG00000086732	ENST00000400454.1:c.5067delT	21.37:g.41424003delA	ENSP00000383303:p.Ala1689fs						p.A1689fs	NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN			30	5544	-		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)	1689					O60468	Frame_Shift_Del	DEL	ENST00000400454.1	37	c.5067delT	CCDS42929.1																																																																																				0.532	DSCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195029.1	NM_001389		19	168						19	168	---	---	---	---	-	41424003	A	-	41424003	7	5	45	1	0	1	0	1	0	0	0	0	4768	175	7	0	987	0	DSCAM	21	41424003	Frame_Shift_Del	DEL	A	TCGA-EJ-5495-01A-01D-1576-08	13583123	41424003	6705892	88	2474											
GGT5	2687	broad.mit.edu	37	chr22	24621251	24621251	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgagctccccgccagcccCgccaatcactagcttcgacc	8	6	8	19	3	1	1	1	1	0	0	3	3	2	1	7	0	3	2	7	0	2	2			TCGA-EJ-5495-01A-01D-1576-08	TCGA-EJ-5495-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a06cd9-5e37-41b7-954f-173a2ab44179	695fd2d7-9426-45e1-81f0-79fbdf6ba0bf	g.chr22:24621251C>T	ENST00000327365.4	-	10	1881	c.1465G>A	c.(1465-1467)Ggg>Agg	p.G489R	GGT5_ENST00000398292.3_Missense_Mutation_p.G490R|GGT5_ENST00000263112.7_Missense_Mutation_p.G457R|GGT5_ENST00000418439.2_Missense_Mutation_p.G413R	NM_001099781.1|NM_004121.2	NP_001093251.1|NP_004112.2	P36269	GGT5_HUMAN	gamma-glutamyltransferase 5	489					arachidonic acid metabolic process (GO:0019369)|cellular amino acid metabolic process (GO:0006520)|glutathione biosynthetic process (GO:0006750)|glutathione metabolic process (GO:0006749)|inflammatory response (GO:0006954)|leukotriene biosynthetic process (GO:0019370)|leukotriene metabolic process (GO:0006691)|small molecule metabolic process (GO:0044281)	anchored component of external side of plasma membrane (GO:0031362)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	gamma-glutamyltransferase activity (GO:0003840)|glutathione hydrolase activity (GO:0036374)	p.G489R(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(3)|skin(3)	28						CCGCCAGCCCCGCCAATCACT	0.622																																						ENST00000327365.4																			1	Substitution - Missense(1)	p.G489R(1)	prostate(1)	breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(3)|skin(3)	28						c.(1465-1467)Ggg>Agg		gamma-glutamyltransferase 5							53	58	56					22																	24621251		2203	4300	6503	SO:0001583	missense	2687				glutathione biosynthetic process|hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process	integral to membrane|plasma membrane	acyltransferase activity|gamma-glutamyltransferase activity	g.chr22:24621251C>T	M64099	CCDS13825.1, CCDS42989.1, CCDS42990.1	22q11.23	2008-03-25	2008-03-10	2008-03-10	ENSG00000099998	ENSG00000099998		"Gamma-glutamyltransferases"	4260	protein-coding gene	gene with protein product		137168	"gamma-glutamyltransferase-like activity 1"	GGTLA1		1676842, 8095916, 18357469	Standard	NM_004121		Approved	GGT-REL	uc002zzp.4	P36269	OTTHUMG00000150796	ENST00000327365.4:c.1465G>A	22.37:g.24621251C>T	ENSP00000330080:p.Gly489Arg					GGT5_ENST00000263112.7_Missense_Mutation_p.G457R|GGT5_ENST00000398292.3_Missense_Mutation_p.G490R|GGT5_ENST00000418439.2_Missense_Mutation_p.G413R	p.G489R	NM_001099781.1|NM_004121.2	NP_001093251.1|NP_004112.2	P36269	GGT5_HUMAN			10	1881	-			489					Q53XM9|Q6GMP0|Q96FC1|Q9UFM5	Missense_Mutation	SNP	ENST00000327365.4	37	c.1465G>A	CCDS13825.1	.	.	.	.	.	.	.	.	.	.	C	24.2	4.500354	0.85176	.	.	ENSG00000099998	ENST00000327365;ENST00000263112;ENST00000438024;ENST00000398292;ENST00000418439	T;T;T;T	0.07021	3.23;3.23;3.23;3.23	4.6	4.6	0.57074	.	0.227922	0.44097	D	0.000481	T	0.34745	0.0908	M	0.90814	3.15	0.51012	D	0.999905	D;D;D;D;D	0.89917	1.0;1.0;1.0;0.999;1.0	D;D;D;D;D	0.97110	1.0;0.996;0.997;0.981;0.997	T	0.35574	-0.9783	10	0.87932	D	0	-32.5583	13.3198	0.60426	0.0:1.0:0.0:0.0	.	413;457;489;490;489	E7EUG3;P36269-2;Q53XM9;Q6GMP0;P36269	.;.;.;.;GGT5_HUMAN	R	489;457;404;490;413	ENSP00000330080:G489R;ENSP00000263112:G457R;ENSP00000381340:G490R;ENSP00000392146:G413R	ENSP00000263112:G457R	G	-	1	0	GGT5	22951251	0.994000	0.37717	0.879000	0.34478	0.934000	0.57294	3.622000	0.54217	2.278000	0.76064	0.555000	0.69702	GGG		0.622	GGT5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000320119.1	NM_004121		26	92	0	0	0	1	0	26	92					T	24621251	C	T	24621251	3	4	45	1	0	0	0	0	1	0	0	0	6362	652	23	2	307	2	GGT5	22	24621251	Missense_Mutation	SNP	C	TCGA-EJ-5495-01A-01D-1576-08		24621251	26683315	89	2475											
APOL1	8542	broad.mit.edu	37	chr22	36661373	36661373	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gctccgtgcccttgcagatgGggttcagaaggtccacaaag	9	8	13	11	1	1	2	1	0	0	2	3	2	3	2	3	3	2	3	3	3	2	2			TCGA-EJ-5495-01A-01D-1576-08	TCGA-EJ-5495-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a06cd9-5e37-41b7-954f-173a2ab44179	695fd2d7-9426-45e1-81f0-79fbdf6ba0bf	g.chr22:36661373G>T	ENST00000397278.3	+	6	720	c.491G>T	c.(490-492)gGg>gTg	p.G164V	APOL1_ENST00000426053.1_Missense_Mutation_p.G146V|APOL1_ENST00000397279.4_Missense_Mutation_p.G164V|APOL1_ENST00000347595.7_Missense_Mutation_p.G43V|APOL1_ENST00000319136.4_Missense_Mutation_p.G180V|APOL1_ENST00000422706.1_Missense_Mutation_p.G164V|APOL1_ENST00000440669.2_3'UTR	NM_003661.3	NP_003652.2	O14791	APOL1_HUMAN	apolipoprotein L, 1	164					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|cholesterol metabolic process (GO:0008203)|cytolysis (GO:0019835)|innate immune response (GO:0045087)|killing of cells of other organism (GO:0031640)|lipid transport (GO:0006869)|lipoprotein metabolic process (GO:0042157)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|high-density lipoprotein particle (GO:0034364)|intrinsic component of membrane (GO:0031224)|very-low-density lipoprotein particle (GO:0034361)	chloride channel activity (GO:0005254)|lipid binding (GO:0008289)	p.G180V(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	14						CTTGCAGATGGGGTTCAGAAG	0.522																																						ENST00000319136.4																			1	Substitution - Missense(1)	p.G180V(1)	prostate(1)	breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	14						c.(538-540)gGg>gTg		apolipoprotein L, 1							130	117	122					22																	36661373		2203	4300	6503	SO:0001583	missense	8542				cholesterol metabolic process|cytolysis|innate immune response|killing of cells of other organism|lipid transport|lipoprotein metabolic process	high-density lipoprotein particle|very-low-density lipoprotein particle	chloride channel activity|lipid binding|protein binding	g.chr22:36661373G>T	AF019225	CCDS13925.1, CCDS13926.1, CCDS46702.1	22q13.1	2014-09-17			ENSG00000100342	ENSG00000100342		"Apolipoproteins"	618	protein-coding gene	gene with protein product		603743		APOL		9325276, 11374903, 16020735	Standard	NM_003661		Approved		uc011amp.2	O14791	OTTHUMG00000030427	ENST00000397278.3:c.491G>T	22.37:g.36661373G>T	ENSP00000380448:p.Gly164Val					APOL1_ENST00000422706.1_Missense_Mutation_p.G164V|APOL1_ENST00000440669.2_3'UTR|APOL1_ENST00000347595.7_Missense_Mutation_p.G43V|APOL1_ENST00000397278.3_Missense_Mutation_p.G164V|APOL1_ENST00000426053.1_Missense_Mutation_p.G146V|APOL1_ENST00000397279.4_Missense_Mutation_p.G164V	p.G180V	NM_145343.2	NP_663318.1	O14791	APOL1_HUMAN			7	806	+			164					A5PLQ4|B4DU12|E9PF24|O60804|Q5R3P7|Q5R3P8|Q96AB8|Q96PM4|Q9BQ03	Missense_Mutation	SNP	ENST00000397278.3	37	c.539G>T	CCDS13926.1	.	.	.	.	.	.	.	.	.	.	g	7.316	0.615920	0.14129	.	.	ENSG00000100342	ENST00000397278;ENST00000422706;ENST00000426053;ENST00000319136;ENST00000347595;ENST00000397279	T;T;T;T;T;T	0.03413	3.94;3.94;3.94;3.94;3.94;3.94	3.38	-0.181	0.13291	.	0.798338	0.12081	N	0.501317	T	0.05914	0.0154	L	0.56769	1.78	0.09310	N	1	P;P;P	0.37176	0.586;0.586;0.531	B;B;B	0.42738	0.396;0.396;0.275	T	0.32903	-0.9889	10	0.36615	T	0.2	.	6.8382	0.23947	0.761:0.0:0.239:0.0	.	146;164;180	E9PF24;O14791;O14791-2	.;APOL1_HUMAN;.	V	164;164;146;180;43;164	ENSP00000380448:G164V;ENSP00000411507:G164V;ENSP00000388477:G146V;ENSP00000317674:G180V;ENSP00000216178:G43V;ENSP00000380449:G164V	ENSP00000317674:G180V	G	+	2	0	APOL1	34991319	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.447000	0.21710	-0.311000	0.08754	-2.526000	0.00183	GGG		0.522	APOL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319100.4	NM_145343		39	215	1	0	1.60099e-16	1	2.00908e-16	39	215					T	36661373	G	T	36661373	3	4	45	1	0	0	0	0	1	0	0	0	805	1232	43	5	561	5	APOL1	22	36661373	Missense_Mutation	SNP	G	TCGA-EJ-5495-01A-01D-1576-08	12040122	36661373	14643193	90	2476											
TBC1D22A	25771	broad.mit.edu	37	chr22	47432981	47432981	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgcagagcaagtgcaccggCacctggaccaacacgaagtg	12	4	13	12	2	0	1	0	0	0	1	0	3	0	2	3	2	4	4	3	2	3	0			TCGA-EJ-5495-01A-01D-1576-08	TCGA-EJ-5495-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a06cd9-5e37-41b7-954f-173a2ab44179	695fd2d7-9426-45e1-81f0-79fbdf6ba0bf	g.chr22:47432981C>T	ENST00000337137.4	+	11	1382	c.1216C>T	c.(1216-1218)Cac>Tac	p.H406Y	TBC1D22A_ENST00000355704.3_Missense_Mutation_p.H328Y|TBC1D22A_ENST00000407381.3_Missense_Mutation_p.H347Y|TBC1D22A_ENST00000406733.1_Missense_Mutation_p.H359Y	NM_001284304.1|NM_001284305.1|NM_014346.2	NP_001271233.1|NP_001271234.1|NP_055161.1	Q8WUA7	TB22A_HUMAN	TBC1 domain family, member 22A	406	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.						protein homodimerization activity (GO:0042803)|Rab GTPase activator activity (GO:0005097)	p.H406Y(1)		breast(1)|endometrium(3)|large_intestine(10)|lung(5)|ovary(2)|prostate(1)	22		all_cancers(38;4.44e-05)|all_epithelial(38;0.000507)|Breast(42;0.0488)|all_lung(38;0.0682)|Ovarian(80;0.0731)|all_neural(38;0.0966)|Glioma(61;0.222)|Lung SC(80;0.236)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0347)|BRCA - Breast invasive adenocarcinoma(115;0.231)		AGTGCACCGGCACCTGGACCA	0.597																																						ENST00000337137.4																			1	Substitution - Missense(1)	p.H406Y(1)	prostate(1)	breast(1)|endometrium(3)|large_intestine(10)|lung(5)|ovary(2)|prostate(1)	22						c.(1216-1218)Cac>Tac		TBC1 domain family, member 22A							103	83	90					22																	47432981		2203	4300	6503	SO:0001583	missense	25771					intracellular	protein homodimerization activity|Rab GTPase activator activity	g.chr22:47432981C>T	AK125705	CCDS14078.1, CCDS63511.1, CCDS63512.1, CCDS74877.1	22q13	2008-01-22	2005-01-05	2005-01-05	ENSG00000054611	ENSG00000054611			1309	protein-coding gene	gene with protein product			"chromosome 22 open reading frame 4"	C22orf4			Standard	XM_005261496		Approved		uc003bib.3	Q8WUA7	OTTHUMG00000150332	ENST00000337137.4:c.1216C>T	22.37:g.47432981C>T	ENSP00000336724:p.His406Tyr					TBC1D22A_ENST00000355704.3_Missense_Mutation_p.H328Y|TBC1D22A_ENST00000406733.1_Missense_Mutation_p.H359Y|TBC1D22A_ENST00000407381.3_Missense_Mutation_p.H347Y	p.H406Y	NM_014346.2	NP_055161.1	Q8WUA7	TB22A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.0347)|BRCA - Breast invasive adenocarcinoma(115;0.231)	11	1382	+		all_cancers(38;4.44e-05)|all_epithelial(38;0.000507)|Breast(42;0.0488)|all_lung(38;0.0682)|Ovarian(80;0.0731)|all_neural(38;0.0966)|Glioma(61;0.222)|Lung SC(80;0.236)	406			Rab-GAP TBC.		B0QYI2|B0QYI3|B9A6M3|Q5TE47|Q6ZUH2|Q92680|Q9BVD6|Q9UGG0|Q9UGT2|Q9UGU6|Q9UH25|Q9Y4W5	Missense_Mutation	SNP	ENST00000337137.4	37	c.1216C>T	CCDS14078.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.231440	0.79688	.	.	ENSG00000054611	ENST00000337137;ENST00000407381;ENST00000355704;ENST00000406733	T;T;T;T	0.20598	2.06;2.06;2.06;2.06	4.59	4.59	0.56863	Rab-GAP/TBC domain (5);	0.000000	0.85682	D	0.000000	T	0.52484	0.1737	M	0.90595	3.13	0.80722	D	1	D;D;D;D	0.76494	0.999;0.999;0.998;0.999	D;D;D;D	0.71414	0.955;0.973;0.973;0.955	T	0.59830	-0.7380	10	0.39692	T	0.17	-12.7465	16.1379	0.81502	0.0:1.0:0.0:0.0	.	406;328;347;406	B9A6M3;Q8WUA7-2;B0QYI1;Q8WUA7	.;.;.;TB22A_HUMAN	Y	406;347;328;359	ENSP00000336724:H406Y;ENSP00000384036:H347Y;ENSP00000347932:H328Y;ENSP00000385634:H359Y	ENSP00000336724:H406Y	H	+	1	0	TBC1D22A	45811645	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	6.940000	0.75917	2.360000	0.80028	0.462000	0.41574	CAC		0.597	TBC1D22A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317600.3	NM_014346		17	110	0	0	0	1	0	17	110					T	47432981	C	T	47432981	3	4	45	1	0	0	0	0	1	0	0	0	15608	710	25	3	1258	3	TBC1D22A	22	47432981	Missense_Mutation	SNP	C	TCGA-EJ-5495-01A-01D-1576-08	10771608	47432981	3871585	91	2477											
MAGEA11	4110	broad.mit.edu	37	chrX	148798036	148798036	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttgtcacctccctcaaccTctcttatgatggcatacagt	8	13	5	15	0	3	1	2	1	1	0	5	1	4	1	4	1	2	1	4	1	3	3			TCGA-EJ-5495-01A-01D-1576-08	TCGA-EJ-5495-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a06cd9-5e37-41b7-954f-173a2ab44179	695fd2d7-9426-45e1-81f0-79fbdf6ba0bf	g.chrX:148798036T>A	ENST00000355220.5	+	5	992	c.890T>A	c.(889-891)cTc>cAc	p.L297H	MAGEA11_ENST00000333104.4_Missense_Mutation_p.L268H	NM_005366.4	NP_005357.2	P43364	MAGAB_HUMAN	melanoma antigen family A, 11	297	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.					cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.L297H(1)		cervix(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)|skin(1)	9	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)					TCCCTCAACCTCTCTTATGAT	0.498																																						ENST00000355220.5																			1	Substitution - Missense(1)	p.L297H(1)	prostate(1)	cervix(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)|skin(1)	9						c.(889-891)cTc>cAc		melanoma antigen family A, 11							137	125	129					X																	148798036		2203	4300	6503	SO:0001583	missense	4110					cytoplasm|nucleus	protein binding	g.chrX:148798036T>A		CCDS48180.1	Xq28	2009-03-13			ENSG00000185247	ENSG00000185247			6798	protein-coding gene	gene with protein product	"MAGE-11 antigen", "melanoma-associated antigen 11", "cancer/testis antigen family 1, member 11"	300344		MAGE11		8575766	Standard	NM_001011544		Approved	MAGE-11, MAGEA-11, MGC10511, CT1.11	uc004fdq.3	P43364	OTTHUMG00000022633	ENST00000355220.5:c.890T>A	X.37:g.148798036T>A	ENSP00000347358:p.Leu297His					MAGEA11_ENST00000333104.4_Missense_Mutation_p.L268H	p.L297H	NM_005366.4	NP_005357.2	P43364	MAGAB_HUMAN			5	992	+	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)		297			MAGE.		Q5ETU4|Q6ZRZ5	Missense_Mutation	SNP	ENST00000355220.5	37	c.890T>A	CCDS48180.1	.	.	.	.	.	.	.	.	.	.	N	10.34	1.322248	0.23994	.	.	ENSG00000185247	ENST00000412632;ENST00000333104;ENST00000355220	T;T;T	0.05258	3.47;3.47;3.47	0.762	0.762	0.18454	.	.	.	.	.	T	0.26738	0.0654	M	0.90252	3.1	0.09310	N	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.02691	-1.1123	8	0.66056	D	0.02	.	.	.	.	.	268;297	G5E962;P43364	.;MAGAB_HUMAN	H	268;268;297	ENSP00000391496:L268H;ENSP00000328177:L268H;ENSP00000347358:L297H	ENSP00000328177:L268H	L	+	2	0	MAGEA11	148576369	0.052000	0.20516	0.009000	0.14445	0.004000	0.04260	1.702000	0.37836	0.527000	0.28560	0.308000	0.20428	CTC		0.498	MAGEA11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058725.4	NM_005366		56	78	0	0	0	1	0	56	78					A	148798036	T	A	148798036	3	1	45	1	0	0	0	0	1	0	0	0	9165	1551	54	5	917	5	MAGEA11	23	148798036	Missense_Mutation	SNP	T	TCGA-EJ-5495-01A-01D-1576-08		148798036	6472524	92	2478											
HSPG2	3339	broad.mit.edu	37	chr1	22173919	22173919	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ggcatcgatgttgttgttggCccggcacacatactcgcccg	6	10	12	13	4	0	0	0	0	0	0	2	1	0	0	2	3	1	5	2	3	1	4			TCGA-EJ-5496-01A-01D-1576-08	TCGA-EJ-5496-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea9dfa9-b503-4f82-9fed-5b88c43074f8	5d8deeb6-3e5f-422d-b7ff-d35db9198e0d	g.chr1:22173919C>T	ENST00000374695.3	-	62	8171	c.8092G>A	c.(8092-8094)Gcc>Acc	p.A2698T	HSPG2_ENST00000430507.1_3'UTR	NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	2698	Ig-like C2-type 12.				angiogenesis (GO:0001525)|brain development (GO:0007420)|carbohydrate metabolic process (GO:0005975)|cardiac muscle tissue development (GO:0048738)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|chondrocyte differentiation (GO:0002062)|chondroitin sulfate metabolic process (GO:0030204)|embryonic skeletal system morphogenesis (GO:0048704)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|lipoprotein metabolic process (GO:0042157)|phototransduction, visible light (GO:0007603)|protein localization (GO:0008104)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	basal lamina (GO:0005605)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)	p.A2698T(1)		breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Palifermin(DB00039)	TTGTTGTTGGCCCGGCACACA	0.642																																						ENST00000374695.3																			1	Substitution - Missense(1)	p.A2698T(1)	prostate(1)	breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127						c.(8092-8094)Gcc>Acc		heparan sulfate proteoglycan 2	Becaplermin(DB00102)|Palifermin(DB00039)						109	105	106					1																	22173919		2203	4300	6503	SO:0001583	missense	3339				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding	g.chr1:22173919C>T	M85289	CCDS30625.1	1p36.1-p35	2013-01-29	2007-02-16	2007-02-16	ENSG00000142798	ENSG00000142798		"Proteoglycans / Extracellular Matrix : Other", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5273	protein-coding gene	gene with protein product	"perlecan proteoglycan"	142461	"Schwartz-Jampel syndrome 1 (chondrodystrophic myotonia)"	SJS1		1685141, 11941538	Standard	XM_005245863		Approved	perlecan, PRCAN	uc001bfj.3	P98160	OTTHUMG00000002674	ENST00000374695.3:c.8092G>A	1.37:g.22173919C>T	ENSP00000363827:p.Ala2698Thr					HSPG2_ENST00000430507.1_3'UTR	p.A2698T	NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	62	8171	-		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)	2698			Ig-like C2-type 12.		Q16287|Q5SZI3|Q9H3V5	Missense_Mutation	SNP	ENST00000374695.3	37	c.8092G>A	CCDS30625.1	.	.	.	.	.	.	.	.	.	.	C	27.4	4.826468	0.90955	.	.	ENSG00000142798	ENST00000374695;ENST00000453796	T;T	0.76448	-1.02;-1.02	5.5	5.5	0.81552	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.39615	N	0.001303	D	0.88596	0.6479	M	0.88105	2.93	0.43126	D	0.994855	P;D	0.53619	0.597;0.961	P;P	0.59115	0.587;0.852	D	0.90653	0.4584	10	0.72032	D	0.01	.	16.9253	0.86174	0.0:1.0:0.0:0.0	.	638;2698	Q59EG0;P98160	.;PGBM_HUMAN	T	2698;113	ENSP00000363827:A2698T;ENSP00000396310:A113T	ENSP00000363827:A2698T	A	-	1	0	HSPG2	22046506	0.992000	0.36948	0.998000	0.56505	0.999000	0.98932	4.998000	0.63927	2.588000	0.87417	0.650000	0.86243	GCC		0.642	HSPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007598.1	NM_005529		4	118	0	0	0	0.009096	0	4	118					T	22173919	C	T	22173919	3	4	46	1	0	0	0	0	1	0	0	0	7430	739	26	3	5227	3	HSPG2	1	22173919	Missense_Mutation	SNP	C	TCGA-EJ-5496-01A-01D-1576-08		22173919	227076702	1	2479											
ARID1A	8289	broad.mit.edu	37	chr1	27106761	27106761	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtcttggaaaccctcagcaaActcagcatccaggacaacaa	15	6	7	13	0	3	0	2	0	1	0	4	2	4	2	2	2	5	2	2	2	4	1			TCGA-EJ-5496-01A-01D-1576-08	TCGA-EJ-5496-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea9dfa9-b503-4f82-9fed-5b88c43074f8	5d8deeb6-3e5f-422d-b7ff-d35db9198e0d	g.chr1:27106761A>G	ENST00000324856.7	+	20	6743	c.6372A>G	c.(6370-6372)aaA>aaG	p.K2124K	ARID1A_ENST00000374152.2_Silent_p.K1741K|ARID1A_ENST00000540690.1_Silent_p.K452K|ARID1A_ENST00000457599.2_Silent_p.K1907K	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	2124					androgen receptor signaling pathway (GO:0030521)|ATP-dependent chromatin remodeling (GO:0043044)|cardiac chamber development (GO:0003205)|chromatin remodeling (GO:0006338)|chromatin-mediated maintenance of transcription (GO:0048096)|forebrain development (GO:0030900)|glucocorticoid receptor signaling pathway (GO:0042921)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|nucleosome disassembly (GO:0006337)|nucleosome mobilization (GO:0042766)|optic cup formation involved in camera-type eye development (GO:0003408)|placenta blood vessel development (GO:0060674)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|transcription coactivator activity (GO:0003713)	p.K2124K(1)	ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		CCCTCAGCAAACTCAGCATCC	0.582			"Mis, N, F, S, D"		"clear cell ovarian carcinoma, RCC"																																	ENST00000324856.7				Rec	yes		1	1p35.3	8289	"Mis, N, F, S, D"	AT rich interactive domain 1A (SWI-like)			E			"clear cell ovarian carcinoma, RCC"	ARID1A/MAST2_ENST00000361297(2)	1	Substitution - coding silent(1)	p.K2124K(1)	prostate(1)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411						c.(6370-6372)aaA>aaG		AT rich interactive domain 1A (SWI-like)							107	104	105					1																	27106761		2203	4300	6503	SO:0001819	synonymous_variant	8289				androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding	g.chr1:27106761A>G	AB001895	CCDS285.1, CCDS44091.1	1p36.1-p35	2014-09-17	2006-11-08	2004-01-30	ENSG00000117713	ENSG00000117713		"-"	11110	protein-coding gene	gene with protein product		603024	"SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily f, member 1", "AT rich interactive domain 1A (SWI- like)"	C1orf4, SMARCF1		9630625, 9434167	Standard	NM_139135		Approved	B120, P270, C10rf4, BAF250, BAF250a	uc001bmv.1	O14497	OTTHUMG00000004004	ENST00000324856.7:c.6372A>G	1.37:g.27106761A>G						ARID1A_ENST00000457599.2_Silent_p.K1907K|ARID1A_ENST00000540690.1_Silent_p.K452K|ARID1A_ENST00000374152.2_Silent_p.K1741K	p.K2124K	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)	20	6743	+		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	2124					D3DPL1|Q53FK9|Q5T0W1|Q5T0W2|Q5T0W3|Q8NFD6|Q96T89|Q9BY33|Q9HBJ5|Q9UPZ1	Silent	SNP	ENST00000324856.7	37	c.6372A>G	CCDS285.1	.	.	.	.	.	.	.	.	.	.	A	1.184	-0.637316	0.03557	.	.	ENSG00000117713	ENST00000430799	.	.	.	4.97	2.57	0.30868	.	.	.	.	.	T	0.53753	0.1816	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.43605	-0.9381	4	.	.	.	-5.4502	5.5732	0.17208	0.7063:0.1453:0.1484:0.0	.	.	.	.	A	1021	.	.	T	+	1	0	ARID1A	26979348	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	1.629000	0.37071	0.437000	0.26423	-0.386000	0.06593	ACT		0.582	ARID1A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000011437.2	NM_139135		37	141	0	0	0	0.007835	0	37	141					G	27106761	A	G	27106761	2	3	46	1	0	0	0	0	0	0	0	1	913	40	2	4		4	ARID1A	1	27106761	Silent	SNP	A	TCGA-EJ-5496-01A-01D-1576-08	4932842	27106761	222143860	2	2480											
EPB41	2035	broad.mit.edu	37	chr1	29314300	29314300	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggaggtcagaaagagatagaAtttggaaccagtcttgatga	15	9	13	4	0	2	5	1	2	1	3	2	8	2	7	1	3	1	0	1	3	4	3			TCGA-EJ-5496-01A-01D-1576-08	TCGA-EJ-5496-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea9dfa9-b503-4f82-9fed-5b88c43074f8	5d8deeb6-3e5f-422d-b7ff-d35db9198e0d	g.chr1:29314300A>G	ENST00000343067.4	+	2	478	c.351A>G	c.(349-351)gaA>gaG	p.E117E	EPB41_ENST00000349460.4_5'UTR|EPB41_ENST00000398863.2_Silent_p.E117E|Y_RNA_ENST00000383977.1_RNA|EPB41_ENST00000373798.1_Silent_p.E117E|EPB41_ENST00000347529.3_Silent_p.E117E|EPB41_ENST00000373797.1_Silent_p.E117E|EPB41_ENST00000373800.3_5'UTR|EPB41_ENST00000356093.2_Silent_p.E117E	NM_001166005.1	NP_001159477.1	P11171	41_HUMAN	erythrocyte membrane protein band 4.1	117					actin cytoskeleton organization (GO:0030036)|blood circulation (GO:0008015)|cortical actin cytoskeleton organization (GO:0030866)|positive regulation of protein binding (GO:0032092)	cortical cytoskeleton (GO:0030863)|extrinsic component of membrane (GO:0019898)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	1-phosphatidylinositol binding (GO:0005545)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)	p.E117E(1)		NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|urinary_tract(1)	14		Colorectal(325;3.46e-05)|Prostate(1639;0.000244)|Lung NSC(340;0.00328)|all_lung(284;0.00412)|Breast(348;0.00765)|all_neural(195;0.0199)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)|Medulloblastoma(700;0.123)		Colorectal(126;3.12e-07)|COAD - Colon adenocarcinoma(152;1.21e-05)|STAD - Stomach adenocarcinoma(196;0.00395)|KIRC - Kidney renal clear cell carcinoma(1967;0.0249)|BRCA - Breast invasive adenocarcinoma(304;0.0289)|READ - Rectum adenocarcinoma(331;0.0757)		AAGAGATAGAATTTGGAACCA	0.423																																						ENST00000343067.4																			1	Substitution - coding silent(1)	p.E117E(1)	prostate(1)	NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|urinary_tract(1)	14						c.(349-351)gaA>gaG		erythrocyte membrane protein band 4.1 (elliptocytosis 1, RH-linked)							126	131	130					1																	29314300		2203	4300	6503	SO:0001819	synonymous_variant	2035				blood circulation|cortical actin cytoskeleton organization|positive regulation of protein binding	extrinsic to membrane|Golgi apparatus|nucleus|plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	1-phosphatidylinositol binding|actin binding|spectrin binding|structural constituent of cytoskeleton	g.chr1:29314300A>G	BC039079	CCDS330.1, CCDS331.1, CCDS332.1, CCDS53288.1, CCDS53289.1	1p33-p32	2014-05-09	2014-05-09		ENSG00000159023	ENSG00000159023			3377	protein-coding gene	gene with protein product		130500	"elliptocytosis 1, RH-linked"	EL1			Standard	NM_001166005		Approved	4.1R	uc001brm.2	P11171	OTTHUMG00000003644	ENST00000343067.4:c.351A>G	1.37:g.29314300A>G						EPB41_ENST00000398863.2_Silent_p.E117E|EPB41_ENST00000373797.1_Silent_p.E117E|EPB41_ENST00000373798.1_Silent_p.E117E|EPB41_ENST00000373800.3_5'UTR|EPB41_ENST00000356093.2_Silent_p.E117E|EPB41_ENST00000349460.4_5'UTR|EPB41_ENST00000347529.3_Silent_p.E117E	p.E117E	NM_001166005.1	NP_001159477.1	P11171	41_HUMAN		Colorectal(126;3.12e-07)|COAD - Colon adenocarcinoma(152;1.21e-05)|STAD - Stomach adenocarcinoma(196;0.00395)|KIRC - Kidney renal clear cell carcinoma(1967;0.0249)|BRCA - Breast invasive adenocarcinoma(304;0.0289)|READ - Rectum adenocarcinoma(331;0.0757)	2	478	+		Colorectal(325;3.46e-05)|Prostate(1639;0.000244)|Lung NSC(340;0.00328)|all_lung(284;0.00412)|Breast(348;0.00765)|all_neural(195;0.0199)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)|Medulloblastoma(700;0.123)	117					B1ALH8|B1ALH9|D3DPM9|D3DPN0|P11176|Q14245|Q5TB35|Q5VXN8|Q8IXV9|Q9Y578|Q9Y579	Silent	SNP	ENST00000343067.4	37	c.351A>G	CCDS53288.1																																																																																				0.423	EPB41-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010312.1	NM_203342		8	286	0	0	0	0.00308	0	8	286					G	29314300	A	G	29314300	2	3	46	1	0	0	0	0	0	0	0	1	5151	98	4	4		4	EPB41	1	29314300	Silent	SNP	A	TCGA-EJ-5496-01A-01D-1576-08	2207539	29314300	219936321	3	2481											
DMBX1	127343	broad.mit.edu	37	chr1	46977762	46977762	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtggccccagggggtggcCtcctgggcccctcccactcc	2	7	13	19	0	0	0	0	0	0	0	3	0	3	0	8	5	0	0	8	5	0	0			TCGA-EJ-5496-01A-01D-1576-08	TCGA-EJ-5496-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea9dfa9-b503-4f82-9fed-5b88c43074f8	5d8deeb6-3e5f-422d-b7ff-d35db9198e0d	g.chr1:46977762C>T	ENST00000360032.3	+	4	744	c.730C>T	c.(730-732)Ctc>Ttc	p.L244F	DMBX1_ENST00000371956.4_Missense_Mutation_p.L249F	NM_172225.1	NP_757379.1			diencephalon/mesencephalon homeobox 1									p.L249F(1)		endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	Acute lymphoblastic leukemia(166;0.155)					AGGGGGTGGCCTCCTGGGCCC	0.627																																						ENST00000371956.4																			1	Substitution - Missense(1)	p.L249F(1)	prostate(1)	endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						c.(745-747)Ctc>Ttc		diencephalon/mesencephalon homeobox 1							100	106	104					1																	46977762		2203	4300	6503	SO:0001583	missense	127343				brain development|developmental growth|negative regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr1:46977762C>T	AB037699	CCDS536.1	1p34.1	2011-06-20	2004-03-29	2004-03-30	ENSG00000197587	ENSG00000197587		"Homeoboxes / PRD class"	19026	protein-coding gene	gene with protein product		607410	"orthodenticle homolog 3 (Drosophila)"	OTX3			Standard	NM_147192		Approved	PAXB	uc001cpx.3	Q8NFW5	OTTHUMG00000007982	ENST00000360032.3:c.730C>T	1.37:g.46977762C>T	ENSP00000353132:p.Leu244Phe					DMBX1_ENST00000360032.3_Missense_Mutation_p.L244F	p.L249F	NM_147192.2	NP_671725.1	Q8NFW5	DMBX1_HUMAN			4	760	+	Acute lymphoblastic leukemia(166;0.155)		249						Missense_Mutation	SNP	ENST00000360032.3	37	c.745C>T	CCDS536.1	.	.	.	.	.	.	.	.	.	.	C	13.13	2.145634	0.37923	.	.	ENSG00000197587	ENST00000371956;ENST00000360032	D;D	0.93604	-3.17;-3.25	4.49	2.42	0.29668	.	0.751551	0.11692	N	0.538761	T	0.80287	0.4595	N	0.08118	0	0.28338	N	0.921496	P;P	0.40050	0.698;0.7	B;B	0.35550	0.101;0.205	T	0.74090	-0.3777	10	0.09843	T	0.71	.	5.2806	0.15673	0.0:0.5706:0.2323:0.1971	.	249;244	Q8NFW5;Q8NFW5-2	DMBX1_HUMAN;.	F	249;244	ENSP00000361024:L249F;ENSP00000353132:L244F	ENSP00000353132:L244F	L	+	1	0	DMBX1	46750349	0.996000	0.38824	0.981000	0.43875	0.770000	0.43624	0.430000	0.21428	1.230000	0.43646	0.655000	0.94253	CTC		0.627	DMBX1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000021895.1			59	289	0	0	0	0.01441	0	59	289					T	46977762	C	T	46977762	3	4	46	1	0	0	0	0	1	0	0	0	4578	681	24	3	759	3	DMBX1	1	46977762	Missense_Mutation	SNP	C	TCGA-EJ-5496-01A-01D-1576-08	17663462	46977762	202272859	4	2482											
WARS2	10352	broad.mit.edu	37	chr1	119576827	119576827	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgatcctccccaacaggaacGtgtgtggacctttaataaaa	13	10	8	10	1	0	1	0	1	0	0	2	3	2	3	4	2	2	0	4	2	5	3	rs199831668		TCGA-EJ-5496-01A-01D-1576-08	TCGA-EJ-5496-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea9dfa9-b503-4f82-9fed-5b88c43074f8	5d8deeb6-3e5f-422d-b7ff-d35db9198e0d	g.chr1:119576827G>A	ENST00000235521.4	-	5	551	c.525C>T	c.(523-525)caC>caT	p.H175H	WARS2_ENST00000537870.1_Silent_p.H81H|WARS2_ENST00000369426.5_Silent_p.H175H	NM_015836.3|NM_201263.2	NP_056651.1|NP_957715.1	Q9UGM6	SYWM_HUMAN	tryptophanyl tRNA synthetase 2, mitochondrial	175					gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)|tryptophanyl-tRNA aminoacylation (GO:0006436)|vasculogenesis (GO:0001570)	mitochondrial matrix (GO:0005759)	ATP binding (GO:0005524)|tryptophan-tRNA ligase activity (GO:0004830)	p.H175H(2)		breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(2)	15	all_neural(166;0.187)	all_lung(203;2.48e-06)|Lung NSC(69;1.74e-05)|all_epithelial(167;0.000564)		Lung(183;0.0629)	L-Tryptophan(DB00150)	CAACAGGAACGTGTGTGGACC	0.433													G|||	1	0.000199681	0	0	5008	,	,		18960	0		0.001	False		,,,				2504	0					ENST00000369426.5																			2	Substitution - coding silent(2)	p.H175H(2)	prostate(2)	breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(2)	15						c.(523-525)caC>caT		tryptophanyl tRNA synthetase 2, mitochondrial	L-Tryptophan(DB00150)	G	,	0,4406		0,0,2203	116	108	111		525,525	4.8	1	1		111	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	WARS2	NM_015836.3,NM_201263.2	,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,	175/361,175/221	119576827	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	10352				tryptophanyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|tryptophan-tRNA ligase activity	g.chr1:119576827G>A	BC021722	CCDS900.1, CCDS30817.1	1p12	2011-07-01	2007-02-23		ENSG00000116874	ENSG00000116874	6.1.1.2	"Aminoacyl tRNA synthetases / Class I"	12730	protein-coding gene	gene with protein product	"tryptophan tRNA ligase 2, mitochondrial"	604733				10072595, 10828066	Standard	NM_201263		Approved	TrpRS	uc001ehn.3	Q9UGM6	OTTHUMG00000012335	ENST00000235521.4:c.525C>T	1.37:g.119576827G>A						WARS2_ENST00000537870.1_Silent_p.H81H|WARS2_ENST00000235521.4_Silent_p.H175H	p.H175H			Q9UGM6	SYWM_HUMAN		Lung(183;0.0629)	5	528	-	all_neural(166;0.187)	all_lung(203;2.48e-06)|Lung NSC(69;1.74e-05)|all_epithelial(167;0.000564)	175					B1ALR1|B2R9D4|Q53FT4|Q5VUD2|Q86TQ0	Silent	SNP	ENST00000235521.4	37	c.525C>T	CCDS900.1																																																																																				0.433	WARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034362.1	NM_015836		8	140	0	0	0	0.00308	0	8	140					A	119576827	G	A	119576827	2	1	46	1	0	0	0	0	0	0	0	1	17247	1136	40	1		1	WARS2	1	119576827	Silent	SNP	G	TCGA-EJ-5496-01A-01D-1576-08	72599065	119576827	129673794	5	2483											
KCNT2	343450	broad.mit.edu	37	chr1	196459055	196459055	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgagagaaaaattgaacaggCgtatccttagacctttaaac	16	10	8	7	1	0	4	0	2	0	2	1	5	1	4	2	1	2	1	2	1	7	5			TCGA-EJ-5496-01A-01D-1576-08	TCGA-EJ-5496-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea9dfa9-b503-4f82-9fed-5b88c43074f8	5d8deeb6-3e5f-422d-b7ff-d35db9198e0d	g.chr1:196459055C>T	ENST00000294725.9	-	3	1103	c.188G>A	c.(187-189)cGc>cAc	p.R63H	KCNT2_ENST00000367431.4_Missense_Mutation_p.R63H|KCNT2_ENST00000367433.5_Missense_Mutation_p.R63H|KCNT2_ENST00000451324.2_5'UTR|KCNT2_ENST00000609185.1_Missense_Mutation_p.R63H			Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	63					potassium ion transmembrane transport (GO:0071805)	voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|calcium-activated potassium channel activity (GO:0015269)|voltage-gated potassium channel activity (GO:0005249)	p.R63P(1)|p.R63H(1)		NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						ATTGAACAGGCGTATCCTTAG	0.289																																						ENST00000367433.5																			2	Substitution - Missense(2)	p.R63P(1)|p.R63H(1)	prostate(1)|lung(1)	NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						c.(187-189)cGc>cAc		potassium channel, subfamily T, member 2							90	97	94					1																	196459055		2203	4291	6494	SO:0001583	missense	343450					voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity	g.chr1:196459055C>T	BX647852, AY359444, AK127807	CCDS1384.1, CCDS72994.1, CCDS72995.1	1q31.3	2012-07-05			ENSG00000162687	ENSG00000162687		"Potassium channels", "Voltage-gated ion channels / Potassium channels, calcium-activated"	18866	protein-coding gene	gene with protein product	"sodium and chloride activated ATP sensitive potassium channel"	610044				16382103	Standard	NM_198503		Approved	KCa4.2, SLICK, SLO2.1	uc001gtd.1	Q6UVM3	OTTHUMG00000035611	ENST00000294725.9:c.188G>A	1.37:g.196459055C>T	ENSP00000294725:p.Arg63His					KCNT2_ENST00000367431.4_Missense_Mutation_p.R63H|KCNT2_ENST00000451324.2_5'UTR|KCNT2_ENST00000294725.8_Missense_Mutation_p.R63H	p.R63H			Q6UVM3	KCNT2_HUMAN			3	289	-			63					Q3SY59|Q5VTN1|Q6ZMT3	Missense_Mutation	SNP	ENST00000294725.9	37	c.188G>A	CCDS1384.1	.	.	.	.	.	.	.	.	.	.	C	26.9	4.785763	0.90282	.	.	ENSG00000162687	ENST00000367433;ENST00000367431;ENST00000294725	T;T;T	0.21361	2.01;2.04;2.27	5.45	5.45	0.79879	.	0.000000	0.64402	D	0.000007	T	0.51787	0.1695	M	0.86178	2.8	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;0.999;1.0	D;D;D;D	0.79784	0.978;0.993;0.954;0.978	T	0.54111	-0.8342	10	0.51188	T	0.08	-6.2909	17.1485	0.86772	0.0:1.0:0.0:0.0	.	63;63;63;63	A9LNM6;Q6UVM3-2;Q6UVM3-3;Q6UVM3	.;.;.;KCNT2_HUMAN	H	63	ENSP00000356403:R63H;ENSP00000356401:R63H;ENSP00000294725:R63H	ENSP00000294725:R63H	R	-	2	0	KCNT2	194725678	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	6.744000	0.74854	2.723000	0.93209	0.655000	0.94253	CGC		0.289	KCNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086418.2	NM_198503		51	173	0	0	0	0.01441	0	51	173					T	196459055	C	T	196459055	3	4	46	1	0	0	0	0	1	0	0	0	8092	768	27	1	3323	1	KCNT2	1	196459055	Missense_Mutation	SNP	C	TCGA-EJ-5496-01A-01D-1576-08	76882228	196459055	52791566	6	2484											
NBAS	51594	broad.mit.edu	37	chr2	15608534	15608534	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atctgctcctttccctattgCtaaaagagcctccaggtctg	8	13	7	13	0	2	1	0	0	2	1	5	1	5	1	4	1	3	2	4	1	3	4			TCGA-EJ-5496-01A-01D-1576-08	TCGA-EJ-5496-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea9dfa9-b503-4f82-9fed-5b88c43074f8	5d8deeb6-3e5f-422d-b7ff-d35db9198e0d	g.chr2:15608534C>T	ENST00000281513.5	-	17	1874	c.1849G>A	c.(1849-1851)Gca>Aca	p.A617T	NBAS_ENST00000441750.1_Missense_Mutation_p.A617T	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN	neuroblastoma amplified sequence	617					negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:2000623)|nuclear-transcribed mRNA catabolic process (GO:0000956)	cytoplasm (GO:0005737)|membrane (GO:0016020)		p.A617T(1)		NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						TTCCCTATTGCTAAAAGAGCC	0.413																																						ENST00000281513.5																			1	Substitution - Missense(1)	p.A617T(1)	prostate(1)	NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						c.(1849-1851)Gca>Aca		neuroblastoma amplified sequence							138	136	137					2																	15608534		2203	4300	6503	SO:0001583	missense	51594							g.chr2:15608534C>T	BC051792	CCDS1685.1	2p24.3	2009-02-23			ENSG00000151779	ENSG00000151779			15625	protein-coding gene	gene with protein product		608025				9926938, 12706883	Standard	NM_015909		Approved	NAG	uc002rcc.2	A2RRP1	OTTHUMG00000121153	ENST00000281513.5:c.1849G>A	2.37:g.15608534C>T	ENSP00000281513:p.Ala617Thr					NBAS_ENST00000441750.1_Missense_Mutation_p.A617T	p.A617T	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN			17	1874	-			617					O95790|Q2VPJ7|Q53TK6|Q86V39|Q8NFY8|Q9Y3W5	Missense_Mutation	SNP	ENST00000281513.5	37	c.1849G>A	CCDS1685.1	.	.	.	.	.	.	.	.	.	.	C	19.75	3.886252	0.72410	.	.	ENSG00000151779	ENST00000441750;ENST00000281513	T;T	0.11821	2.74;2.9	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	T	0.37652	0.1011	L	0.58669	1.825	0.43982	D	0.996675	D	0.89917	1.0	D	0.83275	0.996	T	0.02813	-1.1107	10	0.87932	D	0	.	19.9924	0.97371	0.0:1.0:0.0:0.0	.	617	A2RRP1	NBAS_HUMAN	T	617	ENSP00000413201:A617T;ENSP00000281513:A617T	ENSP00000281513:A617T	A	-	1	0	NBAS	15525985	1.000000	0.71417	0.172000	0.22920	0.696000	0.40369	4.933000	0.63484	2.727000	0.93392	0.650000	0.86243	GCA		0.413	NBAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241638.1	NM_015909		52	254	0	0	0	0.01441	0	52	254					T	15608534	C	T	15608534	3	4	46	1	0	0	0	0	1	0	0	0	10186	797	28	3	5410	3	NBAS	2	15608534	Missense_Mutation	SNP	C	TCGA-EJ-5496-01A-01D-1576-08		15608534	227590839	7	2485											
CCDC150	284992	broad.mit.edu	37	chr2	197583282	197583282	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtcccgaacagtgaagtgtcGtaatgcggccctgaaagaga	12	7	13	9	3	0	3	0	2	0	1	2	5	1	3	2	1	2	1	2	1	4	1	rs373323546		TCGA-EJ-5496-01A-01D-1576-08	TCGA-EJ-5496-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea9dfa9-b503-4f82-9fed-5b88c43074f8	5d8deeb6-3e5f-422d-b7ff-d35db9198e0d	g.chr2:197583282G>A	ENST00000389175.4	+	18	2057	c.1922G>A	c.(1921-1923)cGt>cAt	p.R641H	CCDC150_ENST00000272831.7_Missense_Mutation_p.R288H|CCDC150_ENST00000409270.1_Missense_Mutation_p.R128H	NM_001080539.1	NP_001074008.1	Q8NCX0	CC150_HUMAN	coiled-coil domain containing 150	641								p.R641H(1)		breast(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(14)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	33						GTGAAGTGTCGTAATGCGGCC	0.428																																						ENST00000389175.4																			1	Substitution - Missense(1)	p.R641H(1)	prostate(1)	breast(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(14)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	33						c.(1921-1923)cGt>cAt		coiled-coil domain containing 150		G	HIS/ARG	0,3862		0,0,1931	86	87	87		1922	3.8	0.6	2		87	1,8255		0,1,4127	no	missense	CCDC150	NM_001080539.1	29	0,1,6058	AA,AG,GG		0.0121,0.0,0.0083	benign	641/1102	197583282	1,12117	1931	4128	6059	SO:0001583	missense	284992							g.chr2:197583282G>A		CCDS46478.1	2q33.1	2008-04-10			ENSG00000144395	ENSG00000144395			26834	protein-coding gene	gene with protein product							Standard	NM_001080539		Approved	FLJ39660	uc002utp.1	Q8NCX0	OTTHUMG00000154475	ENST00000389175.4:c.1922G>A	2.37:g.197583282G>A	ENSP00000373827:p.Arg641His					CCDC150_ENST00000409270.1_Missense_Mutation_p.R128H|CCDC150_ENST00000272831.7_Missense_Mutation_p.R288H	p.R641H	NM_001080539.1	NP_001074008.1	Q8NCX0	CC150_HUMAN			18	2057	+			641					Q6P5U6|Q6P663|Q8N8V5	Missense_Mutation	SNP	ENST00000389175.4	37	c.1922G>A	CCDS46478.1	.	.	.	.	.	.	.	.	.	.	G	6.113	0.389009	0.11581	0.0	1.21E-4	ENSG00000144395	ENST00000272831;ENST00000389175;ENST00000409270	T;T;T	0.50548	0.74;0.74;0.74	4.7	3.83	0.44106	.	0.356548	0.26265	N	0.025372	T	0.40522	0.1120	M	0.62723	1.935	0.50467	D	0.999872	B;B;B	0.19706	0.003;0.023;0.038	B;B;B	0.17098	0.005;0.012;0.017	T	0.19418	-1.0306	10	0.15499	T	0.54	-4.9834	9.1521	0.36969	0.1:0.0:0.9:0.0	.	58;288;641	B4DWS7;B4DZ03;Q8NCX0	.;.;CC150_HUMAN	H	288;641;128	ENSP00000272831:R288H;ENSP00000373827:R641H;ENSP00000387257:R128H	ENSP00000272831:R288H	R	+	2	0	CCDC150	197291527	0.034000	0.19679	0.574000	0.28523	0.003000	0.03518	0.737000	0.26144	1.346000	0.45694	-0.143000	0.13931	CGT		0.428	CCDC150-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335377.2	NM_001080539		17	54	0	0	0	0.004007	0	17	54					A	197583282	G	A	197583282	3	1	46	1	0	0	0	0	1	0	0	0	2785	1145	40	1	1992	1	CCDC150	2	197583282	Missense_Mutation	SNP	G	TCGA-EJ-5496-01A-01D-1576-08	181974748	197583282	45616091	8	2486											
OSBPL10	114884	broad.mit.edu	37	chr3	31710253	31710253	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gtgaactctaaagtaccattCcattccccatgggctttaca	11	12	6	12	0	1	1	0	1	1	0	3	1	3	1	4	1	3	2	4	1	5	6			TCGA-EJ-5496-01A-01D-1576-08	TCGA-EJ-5496-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea9dfa9-b503-4f82-9fed-5b88c43074f8	5d8deeb6-3e5f-422d-b7ff-d35db9198e0d	g.chr3:31710253C>T	ENST00000396556.2	-	10	2099	c.1977G>A	c.(1975-1977)tgG>tgA	p.W659*	OSBPL10_ENST00000438237.2_Nonsense_Mutation_p.W595*	NM_017784.4	NP_060254.2	Q9BXB5	OSB10_HUMAN	oxysterol binding protein-like 10	659					lipid transport (GO:0006869)		cholesterol binding (GO:0015485)	p.W659*(2)		breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	34				STAD - Stomach adenocarcinoma(1;0.00406)		AAGTACCATTCCATTCCCCAT	0.433																																						ENST00000396556.2																			2	Substitution - Nonsense(2)	p.W659*(2)	prostate(2)	breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						c.(1975-1977)tgG>tgA		oxysterol binding protein-like 10							291	246	261					3																	31710253		2203	4300	6503	SO:0001587	stop_gained	114884				lipid transport		lipid binding	g.chr3:31710253C>T	AF392451	CCDS2651.1, CCDS54559.1	3p23	2013-01-10			ENSG00000144645	ENSG00000144645		"Oxysterol binding proteins", "Pleckstrin homology (PH) domain containing"	16395	protein-coding gene	gene with protein product		606738					Standard	NM_001174060		Approved		uc021wuu.1	Q9BXB5	OTTHUMG00000130672	ENST00000396556.2:c.1977G>A	3.37:g.31710253C>T	ENSP00000379804:p.Trp659*					OSBPL10_ENST00000438237.2_Nonsense_Mutation_p.W595*	p.W659*	NM_017784.4	NP_060254.2	Q9BXB5	OSB10_HUMAN		STAD - Stomach adenocarcinoma(1;0.00406)	10	2099	-			659					B4E212|Q9BTU5	Nonsense_Mutation	SNP	ENST00000396556.2	37	c.1977G>A	CCDS2651.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	38|38	7.147727|7.147727	0.98096|0.98096	.|.	.|.	ENSG00000144645|ENSG00000144645	ENST00000429492|ENST00000396556;ENST00000438237	.|.	.|.	.|.	4.87|4.87	4.87|4.87	0.63330|0.63330	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|.	0.46737|.	0.1408|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.37291|.	-0.9712|.	3|.	.|0.02654	.|T	.|1	-13.3771|-13.3771	18.902|18.902	0.92446|0.92446	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	E|X	428|659;595	.|.	.|ENSP00000379804:W659X	G|W	-|-	2|3	0|0	OSBPL10|OSBPL10	31685257|31685257	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.894000|0.894000	0.52154|0.52154	7.776000|7.776000	0.85560|0.85560	2.615000|2.615000	0.88500|0.88500	0.655000|0.655000	0.94253|0.94253	GGA|TGG		0.433	OSBPL10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253165.2			72	242	0	0	0	0.01441	0	72	242					T	31710253	C	T	31710253	4	4	46	1	0	0	0	0	0	1	0	0	11275	856	30	3	329	3	OSBPL10	3	31710253	Nonsense_Mutation	SNP	C	TCGA-EJ-5496-01A-01D-1576-08		31710253	166312177	9	2487											
B3GALNT1	8706	broad.mit.edu	37	chr3	160803633	160803633	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccatgggctgcaatcacacGtctcagttgacagacatcca	11	8	9	13	1	2	2	2	1	1	1	4	2	3	2	2	1	1	3	2	1	1	1	rs143966469		TCGA-EJ-5496-01A-01D-1576-08	TCGA-EJ-5496-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea9dfa9-b503-4f82-9fed-5b88c43074f8	5d8deeb6-3e5f-422d-b7ff-d35db9198e0d	g.chr3:160803633G>A	ENST00000392781.2	-	8	1657	c.910C>T	c.(910-912)Cgt>Tgt	p.R304C	B3GALNT1_ENST00000473285.1_Missense_Mutation_p.R304C|B3GALNT1_ENST00000488170.1_Missense_Mutation_p.R304C|B3GALNT1_ENST00000392780.1_Missense_Mutation_p.R304C|B3GALNT1_ENST00000392779.2_Missense_Mutation_p.R304C|B3GALNT1_ENST00000320474.4_Missense_Mutation_p.R304C|B3GALNT1_ENST00000417187.1_Missense_Mutation_p.R64C	NM_001038628.1	NP_001033717.1	O75752	B3GL1_HUMAN	beta-1,3-N-acetylgalactosaminyltransferase 1 (globoside blood group)	304					oligosaccharide biosynthetic process (GO:0009312)|protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	galactosylgalactosylglucosylceramide beta-D-acetylgalactosaminyltransferase activity (GO:0047273)|UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity (GO:0008499)	p.R304C(1)		breast(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13			LUSC - Lung squamous cell carcinoma(72;4.41e-05)|Lung(72;4.61e-05)			GCAATCACACGTCTCAGTTGA	0.378																																						ENST00000392781.2																			1	Substitution - Missense(1)	p.R304C(1)	prostate(1)	breast(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13						c.(910-912)Cgt>Tgt		beta-1,3-N-acetylgalactosaminyltransferase 1 (globoside blood group)		G	CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	60	57	58		910,910,910,910,910	5.9	1	3	dbSNP_134	58	1,8599		0,1,4299	no	missense,missense,missense,missense,missense	B3GALNT1	NM_001038628.1,NM_003781.3,NM_033167.2,NM_033168.2,NM_033169.2	180,180,180,180,180	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	304/332,304/332,304/332,304/332,304/332	160803633	2,13004	2203	4300	6503	SO:0001583	missense	8706				protein glycosylation	Golgi membrane|integral to membrane	galactosylgalactosylglucosylceramide beta-D-acetylgalactosaminyltransferase activity|UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity	g.chr3:160803633G>A	Y15062	CCDS3193.1	3q25	2014-07-18	2006-06-14	2006-05-09	ENSG00000169255	ENSG00000169255	2.4.1.79	"Blood group antigens", "Beta 3-glycosyltransferases"	918	protein-coding gene	gene with protein product	"globoside synthase", "P antigen synthase"	603094	"UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 3 (Globoside blood group)", "UDP-GalNAc:betaGlcNAc beta 1,3-galactosaminyltransferase, polypeptide 1 (Globoside blood group)"	B3GALT3		9582303, 10993897	Standard	XM_005247861		Approved	beta3Gal-T3, galT3, P1, GLOB	uc003fdv.3	O75752	OTTHUMG00000159064	ENST00000392781.2:c.910C>T	3.37:g.160803633G>A	ENSP00000376532:p.Arg304Cys					B3GALNT1_ENST00000488170.1_Missense_Mutation_p.R304C|B3GALNT1_ENST00000473285.1_Missense_Mutation_p.R304C|B3GALNT1_ENST00000320474.4_Missense_Mutation_p.R304C|B3GALNT1_ENST00000392779.2_Missense_Mutation_p.R304C|B3GALNT1_ENST00000392780.1_Missense_Mutation_p.R304C|B3GALNT1_ENST00000417187.1_Missense_Mutation_p.R64C	p.R304C	NM_001038628.1	NP_001033717.1	O75752	B3GL1_HUMAN	LUSC - Lung squamous cell carcinoma(72;4.41e-05)|Lung(72;4.61e-05)		8	1657	-			304					D3DNM4|Q3Y531|Q6IAI5|Q8NFM8|Q8NFM9|Q9HA06	Missense_Mutation	SNP	ENST00000392781.2	37	c.910C>T	CCDS3193.1	.	.	.	.	.	.	.	.	.	.	G	12.83	2.056291	0.36277	2.27E-4	1.16E-4	ENSG00000169255	ENST00000320474;ENST00000392779;ENST00000392780;ENST00000392781;ENST00000473285;ENST00000417187;ENST00000488170	D;D;D;D;D;D	0.89810	-2.57;-2.57;-2.57;-2.57;-2.57;-2.57	5.94	5.94	0.96194	.	0.167110	0.43416	D	0.000577	D	0.91720	0.7382	L	0.43152	1.355	0.51482	D	0.999926	D;D	0.89917	1.0;0.993	D;B	0.70227	0.968;0.446	D	0.91942	0.5564	10	0.87932	D	0	.	14.2145	0.65783	0.0:0.0:0.8509:0.1491	.	64;304	E7EVF0;O75752	.;B3GL1_HUMAN	C	304;304;304;304;304;64;304	ENSP00000323479:R304C;ENSP00000376530:R304C;ENSP00000376531:R304C;ENSP00000376532:R304C;ENSP00000418226:R304C;ENSP00000420163:R304C	ENSP00000323479:R304C	R	-	1	0	B3GALNT1	162286327	0.311000	0.24536	1.000000	0.80357	0.948000	0.59901	2.796000	0.47869	2.816000	0.96949	0.561000	0.74099	CGT		0.378	B3GALNT1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353125.1	NM_033167		20	72	0	0	0	0.010504	0	20	72					A	160803633	G	A	160803633	3	1	46	1	0	0	0	0	1	0	0	0	1245	1145	40	1	89	1	B3GALNT1	3	160803633	Missense_Mutation	SNP	G	TCGA-EJ-5496-01A-01D-1576-08	129093380	160803633	37218797	10	2488											
ACOX3	8310	broad.mit.edu	37	chr4	8416610	8416610	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagatcttttgaatatatgTgagatgtctttcagaaccag	13	14	9	5	0	3	4	1	2	2	3	3	6	3	4	1	0	1	0	1	0	5	5			TCGA-EJ-5496-01A-01D-1576-08	TCGA-EJ-5496-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea9dfa9-b503-4f82-9fed-5b88c43074f8	5d8deeb6-3e5f-422d-b7ff-d35db9198e0d	g.chr4:8416610T>C	ENST00000356406.5	-	4	501	c.424A>G	c.(424-426)Aca>Gca	p.T142A	ACOX3_ENST00000503233.1_Missense_Mutation_p.T142A|ACOX3_ENST00000413009.2_Missense_Mutation_p.T142A	NM_003501.2	NP_003492.2	O15254	ACOX3_HUMAN	acyl-CoA oxidase 3, pristanoyl	142					cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|small molecule metabolic process (GO:0044281)	membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	acyl-CoA dehydrogenase activity (GO:0003995)|flavin adenine dinucleotide binding (GO:0050660)|pristanoyl-CoA oxidase activity (GO:0016402)|receptor binding (GO:0005102)	p.T142A(1)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(9)|lung(17)|prostate(1)|skin(3)|stomach(1)	42						TGAATATATGTGAGATGTCTT	0.403																																						ENST00000356406.5																			1	Substitution - Missense(1)	p.T142A(1)	prostate(1)	breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(9)|lung(17)|prostate(1)|skin(3)|stomach(1)	42						c.(424-426)Aca>Gca		acyl-CoA oxidase 3, pristanoyl							108	102	104					4																	8416610		2203	4300	6503	SO:0001583	missense	8310				bile acid metabolic process|fatty acid beta-oxidation using acyl-CoA oxidase	peroxisomal matrix	acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|pristanoyl-CoA oxidase activity	g.chr4:8416610T>C	Y11411	CCDS3401.1, CCDS47017.1	4p15.3	2010-04-30	2010-04-30		ENSG00000087008	ENSG00000087008	1.3.3.6		121	protein-coding gene	gene with protein product		603402	"acyl-Coenzyme A oxidase 3, pristanoyl"			9271077	Standard	NM_003501		Approved		uc003glc.4	O15254	OTTHUMG00000090509	ENST00000356406.5:c.424A>G	4.37:g.8416610T>C	ENSP00000348775:p.Thr142Ala					ACOX3_ENST00000413009.2_Missense_Mutation_p.T142A|ACOX3_ENST00000503233.1_Missense_Mutation_p.T142A	p.T142A	NM_003501.2	NP_003492.2	O15254	ACOX3_HUMAN			4	501	-			142					Q96AJ8	Missense_Mutation	SNP	ENST00000356406.5	37	c.424A>G	CCDS3401.1	.	.	.	.	.	.	.	.	.	.	T	7.897	0.733561	0.15574	.	.	ENSG00000087008	ENST00000413009;ENST00000356406;ENST00000503233;ENST00000514423	T;T;T;D	0.98849	0.15;0.15;0.15;-5.18	3.9	-3.57	0.04612	Acyl-CoA dehydrogenase/oxidase (1);	1.048000	0.07479	N	0.903512	D	0.93598	0.7956	N	0.11427	0.14	0.09310	N	1	B;B;B	0.14438	0.003;0.01;0.003	B;B;B	0.16289	0.007;0.015;0.003	D	0.88266	0.2926	10	0.34782	T	0.22	-2.115	6.1968	0.20553	0.0:0.3362:0.1296:0.5342	.	142;142;142	B2R856;O15254-2;O15254	.;.;ACOX3_HUMAN	A	142;142;142;47	ENSP00000413994:T142A;ENSP00000348775:T142A;ENSP00000421625:T142A;ENSP00000427321:T47A	ENSP00000348775:T142A	T	-	1	0	ACOX3	8467510	0.003000	0.15002	0.000000	0.03702	0.003000	0.03518	0.272000	0.18644	-0.359000	0.08150	-0.290000	0.09829	ACA		0.403	ACOX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206997.4			4	109	0	0	0	0.014758	0	4	109					C	8416610	T	C	8416610	3	2	46	1	0	0	0	0	1	0	0	0	160	1696	59	4	1738	4	ACOX3	4	8416610	Missense_Mutation	SNP	T	TCGA-EJ-5496-01A-01D-1576-08		8416610	182737666	11	2489											
LIMCH1	22998	broad.mit.edu	37	chr4	41648713	41648713	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccaatcccatgaaatacctgCggcaacagtcactgcctcca	12	7	6	16	1	1	1	1	1	0	0	3	1	3	1	5	1	4	1	5	1	4	1	rs143733086		TCGA-EJ-5496-01A-01D-1576-08	TCGA-EJ-5496-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea9dfa9-b503-4f82-9fed-5b88c43074f8	5d8deeb6-3e5f-422d-b7ff-d35db9198e0d	g.chr4:41648713C>T	ENST00000313860.7	+	12	1522	c.1468C>T	c.(1468-1470)Cgg>Tgg	p.R490W	LIMCH1_ENST00000509277.1_Missense_Mutation_p.R324W|LIMCH1_ENST00000512946.1_Missense_Mutation_p.R490W|LIMCH1_ENST00000514096.1_Missense_Mutation_p.R331W|LIMCH1_ENST00000512632.1_Missense_Mutation_p.R490W|LIMCH1_ENST00000513024.1_Missense_Mutation_p.R319W|LIMCH1_ENST00000512820.1_Missense_Mutation_p.R478W|LIMCH1_ENST00000503057.1_Missense_Mutation_p.R875W|LIMCH1_ENST00000511496.1_Missense_Mutation_p.R331W|LIMCH1_ENST00000381753.4_Missense_Mutation_p.R324W|LIMCH1_ENST00000508501.1_Missense_Mutation_p.R490W|LIMCH1_ENST00000396595.3_Missense_Mutation_p.R336W	NM_014988.2	NP_055803.2	Q9UPQ0	LIMC1_HUMAN	LIM and calponin homology domains 1	490					actomyosin structure organization (GO:0031032)		zinc ion binding (GO:0008270)	p.R875W(1)|p.R490W(1)		central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(5)	41						GAAATACCTGCGGCAACAGTC	0.498													C|||	1	0.000199681	0	0	5008	,	,		20033	0.001		0	False		,,,				2504	0					ENST00000313860.7																			2	Substitution - Missense(2)	p.R875W(1)|p.R490W(1)	prostate(2)	central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(5)	41						c.(1468-1470)Cgg>Tgg		LIM and calponin homology domains 1							220	224	223					4																	41648713		2203	4300	6503	SO:0001583	missense	22998				actomyosin structure organization		actin binding|zinc ion binding	g.chr4:41648713C>T	AB029025	CCDS33977.1, CCDS47047.1, CCDS54763.1, CCDS54764.1, CCDS54765.1, CCDS75119.1, CCDS75121.1	4p13	2007-06-14		2008-01-09	ENSG00000064042	ENSG00000064042			29191	protein-coding gene	gene with protein product						10470851	Standard	XM_005248057		Approved	DKFZP686A01247, LIMCH1A, LMO7B	uc003gvz.4	Q9UPQ0	OTTHUMG00000160575	ENST00000313860.7:c.1468C>T	4.37:g.41648713C>T	ENSP00000316891:p.Arg490Trp					LIMCH1_ENST00000514096.1_Missense_Mutation_p.R331W|LIMCH1_ENST00000381753.4_Missense_Mutation_p.R324W|LIMCH1_ENST00000512820.1_Missense_Mutation_p.R478W|LIMCH1_ENST00000396595.3_Missense_Mutation_p.R336W|LIMCH1_ENST00000509277.1_Missense_Mutation_p.R324W|LIMCH1_ENST00000512946.1_Missense_Mutation_p.R490W|LIMCH1_ENST00000512632.1_Missense_Mutation_p.R490W|LIMCH1_ENST00000508501.1_Missense_Mutation_p.R490W|LIMCH1_ENST00000503057.1_Missense_Mutation_p.R875W|LIMCH1_ENST00000511496.1_Missense_Mutation_p.R331W|LIMCH1_ENST00000513024.1_Missense_Mutation_p.R319W	p.R490W	NM_014988.2	NP_055803.2	Q9UPQ0	LIMC1_HUMAN			12	1522	+			490					A8MXC3|E9PHM7|Q503B5|Q5CZB1|Q5CZB6|Q5H9S8|Q68E07|Q6PJ44|Q7Z3G5|Q8N3S9|Q8N6M2	Missense_Mutation	SNP	ENST00000313860.7	37	c.1468C>T	CCDS33977.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	18.78	3.697333	0.68386	.	.	ENSG00000064042	ENST00000513024;ENST00000508501;ENST00000512946;ENST00000313860;ENST00000512632;ENST00000512820;ENST00000503057;ENST00000511496;ENST00000313875;ENST00000514096;ENST00000509277;ENST00000396595;ENST00000381753	T;T;T;T;T;T;T;T;T;T;T;T	0.55930	0.94;1.15;1.1;1.16;0.94;1.16;0.52;0.49;0.52;0.94;0.94;0.53	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	T	0.70133	0.3189	M	0.68952	2.095	0.80722	D	1	D;D;D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D;D;D	0.91635	0.982;0.982;0.987;0.995;0.996;0.997;0.995;0.999;0.997;0.999;0.997	T	0.72384	-0.4310	10	0.87932	D	0	-18.4384	13.7854	0.63105	0.2558:0.7442:0.0:0.0	.	241;324;490;324;336;875;319;478;490;490;490	B7Z3G0;E9PDJ9;D6RD46;Q9UPQ0-9;Q9UPQ0-6;G5EA03;Q9UPQ0-5;Q9UPQ0-4;E9PHM7;Q9UPQ0-2;Q9UPQ0	.;.;.;.;.;.;.;.;.;.;LIMC1_HUMAN	W	319;490;490;490;490;478;875;331;874;331;324;336;324	ENSP00000425222:R319W;ENSP00000424825:R490W;ENSP00000424645:R490W;ENSP00000316891:R490W;ENSP00000427045:R490W;ENSP00000424437:R478W;ENSP00000425631:R875W;ENSP00000421242:R331W;ENSP00000426334:R331W;ENSP00000422864:R324W;ENSP00000379840:R336W;ENSP00000371172:R324W	ENSP00000316891:R490W	R	+	1	2	LIMCH1	41343470	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.662000	0.37418	2.675000	0.91044	0.591000	0.81541	CGG		0.498	LIMCH1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000361249.2	NM_014988		10	408	0	0	0	0.010729	0	10	408					T	41648713	C	T	41648713	3	4	46	1	0	0	0	0	1	0	0	0	8797	759	27	1	1542	1	LIMCH1	4	41648713	Missense_Mutation	SNP	C	TCGA-EJ-5496-01A-01D-1576-08	33232103	41648713	149505563	12	2490											
LPHN3	23284	broad.mit.edu	37	chr4	62813888	62813888	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcgtacaatgacaggttattGgtcaacacaaggctgtcggc	11	9	12	9	2	1	1	1	1	0	0	2	1	1	1	0	4	2	3	0	4	5	3			TCGA-EJ-5496-01A-01D-1576-08	TCGA-EJ-5496-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea9dfa9-b503-4f82-9fed-5b88c43074f8	5d8deeb6-3e5f-422d-b7ff-d35db9198e0d	g.chr4:62813888G>T	ENST00000514591.1	+	16	2824	c.2495G>T	c.(2494-2496)tGg>tTg	p.W832L	LPHN3_ENST00000506720.1_Missense_Mutation_p.W900L|LPHN3_ENST00000506746.1_Missense_Mutation_p.W900L|LPHN3_ENST00000545650.1_Missense_Mutation_p.W832L|LPHN3_ENST00000507164.1_Missense_Mutation_p.W900L|LPHN3_ENST00000509896.1_Missense_Mutation_p.W900L|LPHN3_ENST00000508946.1_Missense_Mutation_p.W832L|LPHN3_ENST00000508693.1_Missense_Mutation_p.W900L|LPHN3_ENST00000507625.1_Missense_Mutation_p.W900L|LPHN3_ENST00000506700.1_Missense_Mutation_p.W832L|LPHN3_ENST00000512091.2_Missense_Mutation_p.W832L|LPHN3_ENST00000514996.1_Missense_Mutation_p.W832L|LPHN3_ENST00000504896.1_Missense_Mutation_p.W832L|LPHN3_ENST00000514157.1_Missense_Mutation_p.W832L|LPHN3_ENST00000511324.1_Missense_Mutation_p.W900L			Q9HAR2	LPHN3_HUMAN	latrophilin 3	819	GPS. {ECO:0000255|PROSITE- ProRule:PRU00098}.				G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|G-protein coupled receptor activity (GO:0004930)	p.W832L(3)		breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						ACAGGTTATTGGTCAACACAA	0.403																																						ENST00000512091.1																			3	Substitution - Missense(3)	p.W832L(3)	prostate(3)	breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						c.(2494-2496)tGg>tTg		latrophilin 3							97	87	90					4																	62813888		1894	4116	6010	SO:0001583	missense	23284				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding	g.chr4:62813888G>T	AB018311	CCDS54768.1	4q13.1	2014-08-08				ENSG00000150471		"-", "GPCR / Class B : Orphans"	20974	protein-coding gene	gene with protein product						10994649	Standard	NM_015236		Approved	KIAA0768, LEC3	uc010ihh.3	Q9HAR2		ENST00000514591.1:c.2495G>T	4.37:g.62813888G>T	ENSP00000422533:p.Trp832Leu					LPHN3_ENST00000511324.1_Missense_Mutation_p.W900L|LPHN3_ENST00000514591.1_Missense_Mutation_p.W832L|LPHN3_ENST00000508693.1_Missense_Mutation_p.W900L|LPHN3_ENST00000514996.1_Missense_Mutation_p.W832L|LPHN3_ENST00000506720.1_Missense_Mutation_p.W900L|LPHN3_ENST00000508946.1_Missense_Mutation_p.W832L|LPHN3_ENST00000545650.1_Missense_Mutation_p.W832L|LPHN3_ENST00000514157.1_Missense_Mutation_p.W832L|LPHN3_ENST00000507625.1_Missense_Mutation_p.W900L|LPHN3_ENST00000506700.1_Missense_Mutation_p.W832L|LPHN3_ENST00000507164.1_Missense_Mutation_p.W900L|LPHN3_ENST00000506746.1_Missense_Mutation_p.W900L|LPHN3_ENST00000509896.1_Missense_Mutation_p.W900L|LPHN3_ENST00000504896.1_Missense_Mutation_p.W832L	p.W832L			Q9HAR2	LPHN3_HUMAN			16	3242	+			819			GPS.		E9PE04|O94867|Q9NWK5	Missense_Mutation	SNP	ENST00000514591.1	37	c.2495G>T	CCDS54768.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	31|31	5.097063|5.097063	0.94197|0.94197	.|.	.|.	ENSG00000150471|ENSG00000150471	ENST00000502815|ENST00000512091;ENST00000514591;ENST00000509896;ENST00000511324;ENST00000506700;ENST00000545650;ENST00000295349;ENST00000280009;ENST00000507164;ENST00000508693;ENST00000507625;ENST00000514157;ENST00000504896;ENST00000508946;ENST00000506720;ENST00000506746;ENST00000514996	.|D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	.|0.92595	.|-3.07;-3.07;-3.07;-3.07;-3.07;-3.07;-3.07;-3.07;-3.07;-3.07;-3.07;-3.07;-3.07;-3.07;-3.07	5.98|5.98	5.98|5.98	0.97165|0.97165	.|GPS domain (3);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.98036|0.98036	0.9353|0.9353	H|H	0.98314|0.98314	4.2|4.2	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.76494	.|0.999;0.999;0.998	.|D;D;D	.|0.83275	.|0.996;0.996;0.994	D|D	0.98633|0.98633	1.0672|1.0672	5|10	.|0.87932	.|D	.|0	.|.	20.5212|20.5212	0.99222|0.99222	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|832;819;832	.|E9PE04;Q9HAR2;Q9HAR2-2	.|.;LPHN3_HUMAN;.	F|L	289|832;832;900;900;832;832;819;832;900;900;900;832;832;832;900;900;832	.|ENSP00000423388:W832L;ENSP00000422533:W832L;ENSP00000423787:W900L;ENSP00000425033:W900L;ENSP00000424120:W832L;ENSP00000439831:W832L;ENSP00000421476:W900L;ENSP00000424030:W900L;ENSP00000421372:W900L;ENSP00000425201:W832L;ENSP00000423434:W832L;ENSP00000421627:W832L;ENSP00000420931:W900L;ENSP00000425884:W900L;ENSP00000424258:W832L	.|ENSP00000280009:W832L	L|W	+|+	3|2	2|0	LPHN3|LPHN3	62496483|62496483	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.978000|0.978000	0.69477|0.69477	9.865000|9.865000	0.99609|0.99609	2.861000|2.861000	0.98227|0.98227	0.650000|0.650000	0.86243|0.86243	TTG|TGG		0.403	LPHN3-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000361765.1			14	57	1	0	9.05144e-12	0.016723	1.06488e-11	14	57					T	62813888	G	T	62813888	3	4	46	1	0	0	0	0	1	0	0	0	8917	1357	47	5	2549	5	LPHN3	4	62813888	Missense_Mutation	SNP	G	TCGA-EJ-5496-01A-01D-1576-08	21165175	62813888	128340388	13	2491											
SULT1E1	6783	broad.mit.edu	37	chr4	70721017	70721017	+	Splice_Site	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttaaaatcaacttgaacgttAccattcatgaggttttcttt	12	17	5	7	1	3	2	2	2	1	0	3	2	3	2	1	1	3	2	1	1	5	7			TCGA-EJ-5496-01A-01D-1576-08	TCGA-EJ-5496-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea9dfa9-b503-4f82-9fed-5b88c43074f8	5d8deeb6-3e5f-422d-b7ff-d35db9198e0d	g.chr4:70721017A>T	ENST00000226444.3	-	3	384		c.e3+1			NM_005420.2	NP_005411.1	P49888	ST1E1_HUMAN	sulfotransferase family 1E, estrogen-preferring, member 1						3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|estrogen metabolic process (GO:0008210)|female pregnancy (GO:0007565)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|sulfation (GO:0051923)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	estrone sulfotransferase activity (GO:0004304)|flavonol 3-sulfotransferase activity (GO:0047894)|steroid binding (GO:0005496)|steroid sulfotransferase activity (GO:0050294)	p.?(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)	10					Acetaminophen(DB00316)|Cyclizine(DB01176)	CTTGAACGTTACCATTCATGA	0.318																																						ENST00000226444.3																			1	Unknown(1)	p.?(1)	prostate(1)	central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)	10						c.e3+1		sulfotransferase family 1E, estrogen-preferring, member 1							113	106	109					4																	70721017		2203	4299	6502	SO:0001630	splice_region_variant	6783				3'-phosphoadenosine 5'-phosphosulfate metabolic process|sulfation|xenobiotic metabolic process	cytosol|nuclear membrane	estrone sulfotransferase activity|flavonol 3-sulfotransferase activity|steroid binding|steroid sulfotransferase activity	g.chr4:70721017A>T	BC027956	CCDS3531.1	4q13.1	2008-02-05	2004-02-06	2004-02-04	ENSG00000109193	ENSG00000109193	2.8.2.4	"Sulfotransferases, cytosolic"	11377	protein-coding gene	gene with protein product		600043	"sulfotransferase, estrogen-preferring"	STE		7961757	Standard	NM_005420		Approved	EST	uc003heo.3	P49888	OTTHUMG00000129403	ENST00000226444.3:c.271+1T>A	4.37:g.70721017A>T								NM_005420.2	NP_005411.1	P49888	ST1E1_HUMAN			3	384	-								Q8N6X5	Splice_Site	SNP	ENST00000226444.3	37		CCDS3531.1	.	.	.	.	.	.	.	.	.	.	A	7.494	0.651261	0.14516	.	.	ENSG00000109193	ENST00000226444	.	.	.	3.87	3.87	0.44632	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.3637	0.38212	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SULT1E1	70755606	1.000000	0.71417	0.995000	0.50966	0.010000	0.07245	2.472000	0.45136	1.981000	0.57761	0.459000	0.35465	.		0.318	SULT1E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251559.1	NM_005420	Intron	10	74	0	0	0	0.006214	0	10	74					T	70721017	A	T	70721017	5	4	46	1	0	0	0	0	0	0	1	0	15377	405	14	5	635	5	SULT1E1	4	70721017	Splice_Site	SNP	A	TCGA-EJ-5496-01A-01D-1576-08	7907129	70721017	120433259	14	2492											
KIAA1109	84162	broad.mit.edu	37	chr4	123192755	123192755	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gactctgattcaattacagtGtcagaacaaagtgagccttc	13	11	8	9	0	3	3	2	2	1	1	4	4	3	3	1	0	3	0	1	0	4	3			TCGA-EJ-5496-01A-01D-1576-08	TCGA-EJ-5496-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea9dfa9-b503-4f82-9fed-5b88c43074f8	5d8deeb6-3e5f-422d-b7ff-d35db9198e0d	g.chr4:123192755G>A	ENST00000264501.4	+	47	8449	c.8076G>A	c.(8074-8076)gtG>gtA	p.V2692V	KIAA1109_ENST00000388738.3_Silent_p.V2692V|KIAA1109_ENST00000455637.1_Silent_p.V2692V			Q2LD37	K1109_HUMAN	KIAA1109	2692					regulation of cell growth (GO:0001558)|regulation of epithelial cell differentiation (GO:0030856)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)		p.V2692V(1)		breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						CAATTACAGTGTCAGAACAAA	0.373																																						ENST00000264501.4																			1	Substitution - coding silent(1)	p.V2692V(1)	prostate(1)	breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						c.(8074-8076)gtG>gtA		KIAA1109							67	65	65					4																	123192755		1905	4121	6026	SO:0001819	synonymous_variant	84162				regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus		g.chr4:123192755G>A	AL137384	CCDS43267.1	4q28.1	2012-07-09			ENSG00000138688	ENSG00000138688			26953	protein-coding gene	gene with protein product	"fragile site-associated"	611565				16386706	Standard	NM_015312		Approved	FLJ21404, FSA, KIAA1371, Tweek	uc003ieh.3	Q2LD37	OTTHUMG00000150116	ENST00000264501.4:c.8076G>A	4.37:g.123192755G>A						KIAA1109_ENST00000455637.1_Silent_p.V2692V|KIAA1109_ENST00000388738.3_Silent_p.V2692V	p.V2692V			Q2LD37	K1109_HUMAN			47	8449	+			2692					Q4W598|Q5CZA9|Q6ZS70|Q6ZV75|Q86XA5|Q8WVD8|Q9H742|Q9NT48|Q9NTC3|Q9NTI4|Q9P2H6|Q9UPP3	Silent	SNP	ENST00000264501.4	37	c.8076G>A	CCDS43267.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	6.552|6.552	0.470217|0.470217	0.12461|0.12461	.|.	.|.	ENSG00000138688|ENSG00000138688	ENST00000446180|ENST00000419325	.|T	.|0.49139	.|0.79	5.88|5.88	2.31|2.31	0.28768|0.28768	.|.	.|0.000000	.|0.64402	.|D	.|0.000005	T|T	0.48840|0.48840	0.1522|0.1522	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.38607|0.38607	-0.9653|-0.9653	4|7	.|0.52906	.|T	.|0.07	.|.	5.4879|5.4879	0.16759|0.16759	0.2679:0.0:0.6046:0.1275|0.2679:0.0:0.6046:0.1275	.|.	.|.	.|.	.|.	Y|I	1265|650	.|ENSP00000393219:V650I	.|ENSP00000393219:V650I	C|V	+|+	2|1	0|0	KIAA1109|KIAA1109	123412205|123412205	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.986000|0.986000	0.74619|0.74619	3.217000|3.217000	0.51184|0.51184	0.127000|0.127000	0.18452|0.18452	-0.225000|-0.225000	0.12378|0.12378	TGT|GTC		0.373	KIAA1109-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316415.1	NM_020797		5	89	0	0	0	0.014758	0	5	89					A	123192755	G	A	123192755	2	1	46	1	0	0	0	0	0	0	0	1	8208	1364	48	3		3	KIAA1109	4	123192755	Silent	SNP	G	TCGA-EJ-5496-01A-01D-1576-08	52471738	123192755	67961521	15	2493											
MFAP3L	9848	broad.mit.edu	37	chr4	170913387	170913387	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagatgttagaagccacacaCgtgtatttacctcggtctga	11	12	9	9	2	1	3	0	1	1	2	2	3	1	3	2	1	2	2	2	1	5	5	rs141578578		TCGA-EJ-5496-01A-01D-1576-08	TCGA-EJ-5496-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea9dfa9-b503-4f82-9fed-5b88c43074f8	5d8deeb6-3e5f-422d-b7ff-d35db9198e0d	g.chr4:170913387C>T	ENST00000361618.3	-	3	679	c.372G>A	c.(370-372)acG>acA	p.T124T	MFAP3L_ENST00000393704.3_Silent_p.T21T|RP11-6E9.4_ENST00000508955.1_RNA	NM_021647.6	NP_067679.6	O75121	MFA3L_HUMAN	microfibrillar-associated protein 3-like	124	Ig-like C2-type.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.T124T(1)		cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22		Prostate(90;0.00601)|Renal(120;0.0183)|all_neural(102;0.122)|Melanoma(52;0.17)		GBM - Glioblastoma multiforme(119;0.0201)|LUSC - Lung squamous cell carcinoma(193;0.116)		AAGCCACACACGTGTATTTAC	0.512																																						ENST00000361618.3																			1	Substitution - coding silent(1)	p.T124T(1)	prostate(1)	cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						c.(370-372)acG>acA		microfibrillar-associated protein 3-like							125	108	114					4																	170913387		2203	4300	6503	SO:0001819	synonymous_variant	9848					integral to membrane|plasma membrane		g.chr4:170913387C>T	AB014526	CCDS34103.1, CCDS43281.1	4q33	2014-08-12			ENSG00000198948	ENSG00000198948		"Immunoglobulin superfamily / I-set domain containing"	29083	protein-coding gene	gene with protein product						9734811	Standard	XM_005263366		Approved	KIAA0626, NYD-sp9	uc003isp.4	O75121	OTTHUMG00000160942	ENST00000361618.3:c.372G>A	4.37:g.170913387C>T						MFAP3L_ENST00000393704.3_Silent_p.T21T|RP11-6E9.4_ENST00000508955.1_RNA	p.T124T	NM_021647.6	NP_067679.6	O75121	MFA3L_HUMAN		GBM - Glioblastoma multiforme(119;0.0201)|LUSC - Lung squamous cell carcinoma(193;0.116)	3	679	-		Prostate(90;0.00601)|Renal(120;0.0183)|all_neural(102;0.122)|Melanoma(52;0.17)	124			Ig-like C2-type.		A8K1X6|D3DP35|Q4W5N7|Q4W5N9|Q6TNA8|Q9BVE1|Q9BXK0	Silent	SNP	ENST00000361618.3	37	c.372G>A	CCDS34103.1																																																																																				0.512	MFAP3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363043.2	NM_021647		7	268	0	0	0	0.001984	0	7	268					T	170913387	C	T	170913387	2	4	46	1	0	0	0	0	0	0	0	1	9516	523	19	1		1	MFAP3L	4	170913387	Silent	SNP	C	TCGA-EJ-5496-01A-01D-1576-08	47720632	170913387	20240889	16	2494											
ASB5	140458	broad.mit.edu	37	chr4	177190130	177190130	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttccttgcggttgcctttcaCtatgtagaaatgactgagga	9	14	10	8	1	1	3	1	2	0	1	2	4	2	4	2	2	2	2	2	2	3	6			TCGA-EJ-5496-01A-01D-1576-08	TCGA-EJ-5496-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea9dfa9-b503-4f82-9fed-5b88c43074f8	5d8deeb6-3e5f-422d-b7ff-d35db9198e0d	g.chr4:177190130C>G	ENST00000296525.3	-	1	243	c.130G>C	c.(130-132)Gtg>Ctg	p.V44L		NM_080874.3	NP_543150.1	Q8WWX0	ASB5_HUMAN	ankyrin repeat and SOCS box containing 5	44					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)			p.V44L(1)		endometrium(2)|kidney(1)|large_intestine(9)|lung(18)|prostate(2)|skin(2)	34		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.13e-20)|Epithelial(43;9.94e-18)|OV - Ovarian serous cystadenocarcinoma(60;2e-09)|GBM - Glioblastoma multiforme(59;0.000254)|STAD - Stomach adenocarcinoma(60;0.000653)|LUSC - Lung squamous cell carcinoma(193;0.0393)		TTGCCTTTCACTATGTAGAAA	0.393																																						ENST00000296525.3																			1	Substitution - Missense(1)	p.V44L(1)	prostate(1)	endometrium(2)|kidney(1)|large_intestine(9)|lung(18)|prostate(2)|skin(2)	34						c.(130-132)Gtg>Ctg		ankyrin repeat and SOCS box containing 5							109	99	102					4																	177190130		2203	4300	6503	SO:0001583	missense	140458				intracellular signal transduction			g.chr4:177190130C>G	AY057053	CCDS3827.1	4q34.1	2013-01-10	2011-01-25		ENSG00000164122	ENSG00000164122		"Ankyrin repeat domain containing"	17180	protein-coding gene	gene with protein product		615050	"ankyrin repeat and SOCS box-containing 5"				Standard	NM_080874		Approved		uc003iuq.2	Q8WWX0	OTTHUMG00000160793	ENST00000296525.3:c.130G>C	4.37:g.177190130C>G	ENSP00000296525:p.Val44Leu						p.V44L	NM_080874.3	NP_543150.1	Q8WWX0	ASB5_HUMAN		all cancers(43;2.13e-20)|Epithelial(43;9.94e-18)|OV - Ovarian serous cystadenocarcinoma(60;2e-09)|GBM - Glioblastoma multiforme(59;0.000254)|STAD - Stomach adenocarcinoma(60;0.000653)|LUSC - Lung squamous cell carcinoma(193;0.0393)	1	243	-		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)	44					Q8N7B5	Missense_Mutation	SNP	ENST00000296525.3	37	c.130G>C	CCDS3827.1	.	.	.	.	.	.	.	.	.	.	C	27.3	4.820571	0.90873	.	.	ENSG00000164122	ENST00000296525	T	0.40476	1.03	5.84	5.84	0.93424	Ankyrin repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.47097	0.1427	L	0.32530	0.975	0.80722	D	1	D	0.53745	0.962	P	0.51866	0.682	T	0.17806	-1.0357	10	0.33940	T	0.23	-20.4979	20.1466	0.98079	0.0:1.0:0.0:0.0	.	44	Q8WWX0	ASB5_HUMAN	L	44	ENSP00000296525:V44L	ENSP00000296525:V44L	V	-	1	0	ASB5	177427124	1.000000	0.71417	0.972000	0.41901	0.914000	0.54420	4.884000	0.63135	2.779000	0.95612	0.591000	0.81541	GTG		0.393	ASB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362344.1			7	128	0	0	0	0.001984	0	7	128					G	177190130	C	G	177190130	3	3	46	1	0	0	0	0	1	0	0	0	1026	565	20	5	887	5	ASB5	4	177190130	Missense_Mutation	SNP	C	TCGA-EJ-5496-01A-01D-1576-08	6276743	177190130	13964146	17	2495											
RWDD4A	201965	broad.mit.edu	37	chr4	184567682	184567682	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagcctcgaggaagttctcCtttgtgatctagaagataaa	12	11	9	9	1	2	3	0	1	2	2	4	5	2	4	3	1	1	1	3	1	5	4			TCGA-EJ-5496-01A-01D-1576-08	TCGA-EJ-5496-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea9dfa9-b503-4f82-9fed-5b88c43074f8	5d8deeb6-3e5f-422d-b7ff-d35db9198e0d	g.chr4:184567682C>G	ENST00000326397.5	-	6	762	c.490G>C	c.(490-492)Gga>Cga	p.G164R	RWDD4_ENST00000512740.1_Missense_Mutation_p.G101R|RWDD4_ENST00000510968.1_Missense_Mutation_p.G69R|RWDD4_ENST00000327570.9_Missense_Mutation_p.G164R	NM_152682.2	NP_689895.2	Q6NW29	RWDD4_HUMAN	RWD domain containing 4	164								p.G164R(1)		large_intestine(2)|lung(4)|ovary(1)|prostate(1)	8						GGAAGTTCTCCTTTGTGATCT	0.289																																						ENST00000326397.5																			1	Substitution - Missense(1)	p.G164R(1)	prostate(1)	large_intestine(2)|lung(4)|ovary(1)|prostate(1)	8						c.(490-492)Gga>Cga		RWD domain containing 4							59	67	64					4																	184567682		2198	4290	6488	SO:0001583	missense	201965							g.chr4:184567682C>G	BC017472	CCDS34111.1	4q35.1	2012-12-07	2010-09-30	2010-09-30	ENSG00000182552	ENSG00000182552			23750	protein-coding gene	gene with protein product			"family with sequence similarity 28, member A", "RWD domain containing 4A"	FAM28A, RWDD4A			Standard	NM_152682		Approved	MGC10198	uc003ivt.1	Q6NW29	OTTHUMG00000160632	ENST00000326397.5:c.490G>C	4.37:g.184567682C>G	ENSP00000388920:p.Gly164Arg					RWDD4_ENST00000512740.1_Missense_Mutation_p.G101R|RWDD4_ENST00000510968.1_Missense_Mutation_p.G69R|RWDD4_ENST00000327570.9_Missense_Mutation_p.G164R	p.G164R	NM_152682.2	NP_689895.2	Q6NW29	RWDD4_HUMAN			6	762	-			164					B2RDE9|B4DDP2|Q75LA9|Q8WVW2	Missense_Mutation	SNP	ENST00000326397.5	37	c.490G>C	CCDS34111.1	.	.	.	.	.	.	.	.	.	.	C	23.8	4.463466	0.84425	.	.	ENSG00000182552	ENST00000326397;ENST00000327570;ENST00000510968;ENST00000512740	T;T;T;T	0.57436	0.56;0.55;0.4;0.4	5.19	5.19	0.71726	.	0.000000	0.85682	D	0.000000	T	0.77356	0.4118	M	0.87758	2.905	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.81145	-0.1066	10	0.59425	D	0.04	-15.3016	18.7379	0.91763	0.0:1.0:0.0:0.0	.	164	Q6NW29	RWDD4_HUMAN	R	164;164;69;101	ENSP00000388920:G164R;ENSP00000332177:G164R;ENSP00000426329:G69R;ENSP00000423598:G101R	ENSP00000388920:G164R	G	-	1	0	RWDD4	184804676	1.000000	0.71417	1.000000	0.80357	0.914000	0.54420	7.055000	0.76656	2.421000	0.82119	0.561000	0.74099	GGA		0.289	RWDD4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000361499.2	NM_152682		8	254	0	0	0	0.004482	0	8	254					G	184567682	C	G	184567682	3	3	46	1	0	0	0	0	1	0	0	0	13758	690	24	5	84	5	RWDD4A	4	184567682	Missense_Mutation	SNP	C	TCGA-EJ-5496-01A-01D-1576-08	7377552	184567682	6586594	18	2496											
IRX1	79192	broad.mit.edu	37	chr5	3599606	3599606	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccacctggttcgccaacgcgCgccggcgcctcaagaaggag	8	4	13	16	6	1	1	1	0	0	1	2	2	1	2	5	3	1	1	5	3	3	1			TCGA-EJ-5496-01A-01D-1576-08	TCGA-EJ-5496-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea9dfa9-b503-4f82-9fed-5b88c43074f8	5d8deeb6-3e5f-422d-b7ff-d35db9198e0d	g.chr5:3599606C>T	ENST00000302006.3	+	2	596	c.544C>T	c.(544-546)Cgc>Tgc	p.R182C	CTD-2012M11.3_ENST00000559410.1_RNA	NM_024337.3	NP_077313.3	P78414	IRX1_HUMAN	iroquois homeobox 1	182					proximal/distal pattern formation involved in metanephric nephron development (GO:0072272)|regulation of transcription, DNA-templated (GO:0006355)|specification of loop of Henle identity (GO:0072086)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)	p.R182C(1)		biliary_tract(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|pancreas(1)|prostate(5)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						CGCCAACGCGCGCCGGCGCCT	0.632																																						ENST00000302006.3																			1	Substitution - Missense(1)	p.R182C(1)	prostate(1)	biliary_tract(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|pancreas(1)|prostate(5)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						c.(544-546)Cgc>Tgc		iroquois homeobox 1							111	93	99					5																	3599606		2203	4300	6503	SO:0001583	missense	79192					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr5:3599606C>T	U90307	CCDS34132.1	5p15.33	2011-12-16	2007-07-13		ENSG00000170549	ENSG00000170549		"Homeoboxes / TALE class"	14358	protein-coding gene	gene with protein product		606197					Standard	NM_024337		Approved	IRX-5	uc003jde.3	P78414	OTTHUMG00000161632	ENST00000302006.3:c.544C>T	5.37:g.3599606C>T	ENSP00000305244:p.Arg182Cys					CTD-2012M11.3_ENST00000559410.1_RNA	p.R182C	NM_024337.3	NP_077313.3	P78414	IRX1_HUMAN			2	596	+			182					Q7Z2F8|Q8N312	Missense_Mutation	SNP	ENST00000302006.3	37	c.544C>T	CCDS34132.1	.	.	.	.	.	.	.	.	.	.	C	19.54	3.847673	0.71603	.	.	ENSG00000170549	ENST00000302006	D	0.99841	-7.09	4.71	4.71	0.59529	Homeodomain-related (1);Homeobox (2);Homeobox KN domain (1);Homeodomain-like (1);Homeobox, conserved site (1);	0.052249	0.64402	D	0.000001	D	0.99900	0.9952	H	0.98027	4.13	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.95971	0.8970	10	0.87932	D	0	.	17.2922	0.87160	0.0:1.0:0.0:0.0	.	182	P78414	IRX1_HUMAN	C	182	ENSP00000305244:R182C	ENSP00000305244:R182C	R	+	1	0	IRX1	3652606	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.994000	0.49433	2.125000	0.65367	0.655000	0.94253	CGC		0.632	IRX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365546.1	NM_024337		22	124	0	0	0	0.021523	0	22	124					T	3599606	C	T	3599606	3	4	46	1	0	0	0	0	1	0	0	0	7843	768	27	1	550	1	IRX1	5	3599606	Missense_Mutation	SNP	C	TCGA-EJ-5496-01A-01D-1576-08		3599606	177315654	19	2497											
FAM169A	26049	broad.mit.edu	37	chr5	74091853	74091853	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgctgaataagtgatctcatAccttttcaccatcttgcttc	9	16	5	11	0	3	2	2	2	2	0	5	2	3	2	2	0	3	2	2	0	3	6			TCGA-EJ-5496-01A-01D-1576-08	TCGA-EJ-5496-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea9dfa9-b503-4f82-9fed-5b88c43074f8	5d8deeb6-3e5f-422d-b7ff-d35db9198e0d	g.chr5:74091853A>G	ENST00000389156.4	-	11	1351		c.e11+1		FAM169A_ENST00000510496.1_Splice_Site|FAM169A_ENST00000380515.3_Splice_Site	NM_015566.2	NP_056381.1	Q9Y6X4	F169A_HUMAN	family with sequence similarity 169, member A							membrane (GO:0016020)|nucleus (GO:0005634)		p.?(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|prostate(2)|urinary_tract(1)	27						GTGATCTCATACCTTTTCACC	0.368																																						ENST00000389156.4																			1	Unknown(1)	p.?(1)	prostate(1)	breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|prostate(2)|urinary_tract(1)	27						c.e11+1		family with sequence similarity 169, member A							214	200	204					5																	74091853		1944	4138	6082	SO:0001630	splice_region_variant	26049							g.chr5:74091853A>G		CCDS43330.1	5q13.3	2008-08-08			ENSG00000198780	ENSG00000198780			29138	protein-coding gene	gene with protein product		615769				10048485	Standard	NM_015566		Approved	KIAA0888	uc003kdm.4	Q9Y6X4	OTTHUMG00000162930	ENST00000389156.4:c.1260+1T>C	5.37:g.74091853A>G						FAM169A_ENST00000380515.3_Splice_Site|FAM169A_ENST00000510496.1_Splice_Site		NM_015566.2	NP_056381.1	Q9Y6X4	F169A_HUMAN			11	1351	-								A8K1T9|Q6MZT0|Q9H989	Splice_Site	SNP	ENST00000389156.4	37		CCDS43330.1	.	.	.	.	.	.	.	.	.	.	A	10.16	1.272822	0.23221	.	.	ENSG00000198780	ENST00000389156;ENST00000510496	.	.	.	5.19	5.19	0.71726	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.3534	0.49602	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	FAM169A	74127609	0.999000	0.42202	0.907000	0.35723	0.033000	0.12548	4.715000	0.61909	2.185000	0.69588	0.482000	0.46254	.		0.368	FAM169A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371092.2		Intron	5	371	0	0	0	0.001984	0	5	371					G	74091853	A	G	74091853	5	3	46	1	0	0	0	0	0	0	1	0	5487	405	14	4	762	4	FAM169A	5	74091853	Splice_Site	SNP	A	TCGA-EJ-5496-01A-01D-1576-08	70492247	74091853	106823407	20	2498											
TRIM36	55521	broad.mit.edu	37	chr5	114466559	114466559	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtgttcattattatagccaCatttttcatcaaagaggaag	13	14	8	6	0	3	1	3	0	0	1	3	2	3	2	1	2	1	1	1	2	5	6			TCGA-EJ-5496-01A-01D-1576-08	TCGA-EJ-5496-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea9dfa9-b503-4f82-9fed-5b88c43074f8	5d8deeb6-3e5f-422d-b7ff-d35db9198e0d	g.chr5:114466559C>T	ENST00000282369.3	-	9	1683	c.1562G>A	c.(1561-1563)tGt>tAt	p.C521Y	TRIM36_ENST00000514154.1_Missense_Mutation_p.C366Y|TRIM36_ENST00000513154.1_Missense_Mutation_p.C509Y	NM_018700.3	NP_061170.2	Q9NQ86	TRI36_HUMAN	tripartite motif containing 36	521	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				acrosome reaction (GO:0007340)|regulation of cell cycle (GO:0051726)	acrosomal vesicle (GO:0001669)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.C521Y(2)		breast(3)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	37		all_cancers(142;0.00133)|all_epithelial(76;2.41e-05)|Prostate(80;0.00955)|Ovarian(225;0.0443)|Breast(839;0.195)		OV - Ovarian serous cystadenocarcinoma(64;3.62e-08)|Epithelial(69;7.69e-08)|all cancers(49;9.33e-06)		ATTATAGCCACATTTTTCATC	0.368																																						ENST00000513154.1																			2	Substitution - Missense(2)	p.C521Y(2)	prostate(2)	breast(3)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	37						c.(1525-1527)tGt>tAt		tripartite motif containing 36							70	71	71					5																	114466559		2202	4300	6502	SO:0001583	missense	55521					acrosomal vesicle|cytoskeleton	ligase activity|zinc ion binding	g.chr5:114466559C>T	AJ272269	CCDS4115.1, CCDS34211.1, CCDS34212.1, CCDS75287.1	5q22	2013-02-11	2011-01-25		ENSG00000152503	ENSG00000152503		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers", "Fibronectin type III domain containing"	16280	protein-coding gene	gene with protein product	"zinc-binding protein Rbcc728", "tripartite motif protein 36", "RING finger protein 98"	609317	"tripartite motif-containing 36"			11331580	Standard	XM_005272031		Approved	RBCC728, RNF98, HAPRIN	uc003kqs.3	Q9NQ86	OTTHUMG00000128892	ENST00000282369.3:c.1562G>A	5.37:g.114466559C>T	ENSP00000282369:p.Cys521Tyr					TRIM36_ENST00000514154.1_Missense_Mutation_p.C366Y|TRIM36_ENST00000282369.3_Missense_Mutation_p.C521Y	p.C509Y			Q9NQ86	TRI36_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;3.62e-08)|Epithelial(69;7.69e-08)|all cancers(49;9.33e-06)	9	1852	-		all_cancers(142;0.00133)|all_epithelial(76;2.41e-05)|Prostate(80;0.00955)|Ovarian(225;0.0443)|Breast(839;0.195)	521			B30.2/SPRY.		A1L3Z1|A6NDD0|B7Z3V4|B7ZAV7|E9PFI8|Q0P5Z9	Missense_Mutation	SNP	ENST00000282369.3	37	c.1526G>A	CCDS4115.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.309039	0.81247	.	.	ENSG00000152503	ENST00000282369;ENST00000513154;ENST00000514154	T;T;T	0.60424	0.19;0.19;0.19	5.8	5.8	0.92144	Concanavalin A-like lectin/glucanase (1);B30.2/SPRY domain (1);	0.000000	0.85682	D	0.000000	T	0.72463	0.3463	L	0.60455	1.87	0.80722	D	1	D;D	0.89917	1.0;0.986	D;D	0.85130	0.997;0.938	T	0.63972	-0.6516	10	0.13853	T	0.58	.	20.064	0.97700	0.0:1.0:0.0:0.0	.	509;521	E9PFI8;Q9NQ86	.;TRI36_HUMAN	Y	521;509;366	ENSP00000282369:C521Y;ENSP00000423934:C509Y;ENSP00000424259:C366Y	ENSP00000282369:C521Y	C	-	2	0	TRIM36	114494458	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.234000	0.78134	2.739000	0.93911	0.467000	0.42956	TGT		0.368	TRIM36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250854.2	NM_018700		25	119	0	0	0	0.004656	0	25	119					T	114466559	C	T	114466559	3	4	46	1	0	0	0	0	1	0	0	0	16507	478	17	3	632	3	TRIM36	5	114466559	Missense_Mutation	SNP	C	TCGA-EJ-5496-01A-01D-1576-08	40374706	114466559	66448701	21	2499											
C5orf48	389320	broad.mit.edu	37	chr5	125967461	125967461	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agatacttgtcctactttgcCtaaactcactaacaactgct	12	13	4	12	0	1	1	1	0	0	1	2	1	2	1	2	0	7	1	2	0	6	6			TCGA-EJ-5496-01A-01D-1576-08	TCGA-EJ-5496-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea9dfa9-b503-4f82-9fed-5b88c43074f8	5d8deeb6-3e5f-422d-b7ff-d35db9198e0d	g.chr5:125967461C>G	ENST00000357147.3	+	1	48	c.35C>G	c.(34-36)cCt>cGt	p.P12R		NM_207408.1	NP_997291.1	Q6ZNM6	TEX43_HUMAN		12								p.P12R(1)		large_intestine(1)|lung(1)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	7						CCTACTTTGCCTAAACTCACT	0.378																																						ENST00000357147.3																			1	Substitution - Missense(1)	p.P12R(1)	prostate(1)	large_intestine(1)|lung(1)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	7						c.(34-36)cCt>cGt		chromosome 5 open reading frame 48							203	178	187					5																	125967461		2203	4300	6503	SO:0001583	missense	389320							g.chr5:125967461C>G																												ENST00000357147.3:c.35C>G	5.37:g.125967461C>G	ENSP00000349669:p.Pro12Arg						p.P12R	NM_207408.1	NP_997291.1	Q6ZNM6	CE048_HUMAN			1	48	+			12						Missense_Mutation	SNP	ENST00000357147.3	37	c.35C>G	CCDS4139.1	.	.	.	.	.	.	.	.	.	.	C	14.98	2.698611	0.48307	.	.	ENSG00000196900	ENST00000357147	.	.	.	3.96	3.96	0.45880	.	0.000000	0.43260	D	0.000581	T	0.50939	0.1645	L	0.32530	0.975	0.19300	N	0.999973	D	0.89917	1.0	D	0.87578	0.998	T	0.35822	-0.9773	9	0.87932	D	0	-15.6	11.7982	0.52112	0.0:1.0:0.0:0.0	.	12	Q6ZNM6	CE048_HUMAN	R	12	.	ENSP00000349669:P12R	P	+	2	0	C5orf48	125995360	0.247000	0.23920	0.182000	0.23118	0.040000	0.13550	2.981000	0.49329	2.495000	0.84180	0.561000	0.74099	CCT		0.378	C5orf48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250923.1			5	170	0	0	0	0.014758	0	5	170					G	125967461	C	G	125967461	3	3	46	1	0	0	0	0	1	0	0	0	2306	681	24	5	37	5	C5orf48	5	125967461	Missense_Mutation	SNP	C	TCGA-EJ-5496-01A-01D-1576-08	11500902	125967461	54947799	22	2500											
RAPGEF6	51735	broad.mit.edu	37	chr5	130766663	130766663	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggtgctctccaatactctctGtttaactgtcccatagtttg	7	16	7	11	0	2	0	0	0	2	0	5	0	3	0	2	1	3	3	2	1	4	5			TCGA-EJ-5496-01A-01D-1576-08	TCGA-EJ-5496-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea9dfa9-b503-4f82-9fed-5b88c43074f8	5d8deeb6-3e5f-422d-b7ff-d35db9198e0d	g.chr5:130766663G>A	ENST00000509018.1	-	26	4559	c.4354C>T	c.(4354-4356)Cag>Tag	p.Q1452*	RAPGEF6_ENST00000307984.5_Nonsense_Mutation_p.Q1465*|CTC-432M15.3_ENST00000514667.1_Nonsense_Mutation_p.Q1502*|RAPGEF6_ENST00000296859.6_Nonsense_Mutation_p.Q1460*|RAPGEF6_ENST00000507093.1_Nonsense_Mutation_p.Q1460*	NM_001164386.1|NM_016340.5	NP_001157858.1|NP_057424.3	Q8TEU7	RPGF6_HUMAN	Rap guanine nucleotide exchange factor (GEF) 6	1452			Q -> R (in dbSNP:rs1291602). {ECO:0000269|PubMed:11524421, ECO:0000269|PubMed:12581858, ECO:0000269|Ref.2}.		positive regulation of GTPase activity (GO:0043547)|Ras protein signal transduction (GO:0007265)|regulation of GTPase activity (GO:0043087)|regulation of small GTPase mediated signal transduction (GO:0051056)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	GTP-dependent protein binding (GO:0030742)|guanyl-nucleotide exchange factor activity (GO:0005085)|Ras GTPase binding (GO:0017016)	p.Q1452*(1)|p.Q1465*(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|skin(1)|stomach(1)	31			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0721)		AATACTCTCTGTTTAACTGTC	0.463																																					Melanoma(168;435 1955 13113 13877 23213)	ENST00000509018.1																			2	Substitution - Nonsense(2)	p.Q1452*(1)|p.Q1465*(1)	prostate(2)	breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|skin(1)|stomach(1)	31						c.(4354-4356)Cag>Tag		Rap guanine nucleotide exchange factor (GEF) 6							145	151	149					5																	130766663		2203	4300	6503	SO:0001587	stop_gained	51735				Ras protein signal transduction|regulation of GTPase activity|regulation of small GTPase mediated signal transduction	cytoplasm|plasma membrane	GTP-dependent protein binding|guanyl-nucleotide exchange factor activity|Ras GTPase binding	g.chr5:130766663G>A	AF117947	CCDS34225.1, CCDS54897.1, CCDS54898.1, CCDS54899.1, CCDS54900.1	5q31.1	2008-02-05	2004-03-01	2004-03-02	ENSG00000158987	ENSG00000158987			20655	protein-coding gene	gene with protein product		610499	"PDZ domain containing guanine nucleotide exchange factor (GEF) 2"	PDZGEF2		11524421, 12095257	Standard	NM_016340		Approved	RA-GEF-2, PDZ-GEF2	uc010jdi.2	Q8TEU7	OTTHUMG00000162683	ENST00000509018.1:c.4354C>T	5.37:g.130766663G>A	ENSP00000421684:p.Gln1452*					RAPGEF6_ENST00000307984.5_Nonsense_Mutation_p.Q1465*|RAPGEF6_ENST00000507093.1_Nonsense_Mutation_p.Q1460*|RAPGEF6_ENST00000296859.6_Nonsense_Mutation_p.Q1460*|FNIP1_ENST00000514667.1_Nonsense_Mutation_p.Q1502*	p.Q1452*	NM_001164386.1|NM_016340.5	NP_001157858.1|NP_057424.3	Q8TEU7	RPGF6_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0721)	26	4559	-			1452		Q -> R (in dbSNP:rs1291602).			A3KN82|A5PLL6|B7ZML2|E9PDV7|Q8NI21|Q8TEU6|Q96PC1	Nonsense_Mutation	SNP	ENST00000509018.1	37	c.4354C>T	CCDS34225.1	.	.	.	.	.	.	.	.	.	.	G	42	9.804233	0.99268	.	.	ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000217128	ENST00000509018;ENST00000307984;ENST00000507093;ENST00000296859;ENST00000358714;ENST00000514667	.	.	.	5.22	2.19	0.27852	.	0.112278	0.64402	D	0.000013	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.46703	T	0.11	.	14.5329	0.67939	0.0:0.0:0.6233:0.3767	.	.	.	.	X	1452;1465;1460;1460;1465;1502	.	ENSP00000426948:Q1502X	Q	-	1	0	RAPGEF6;FNIP1	130794562	1.000000	0.71417	0.995000	0.50966	0.850000	0.48378	4.611000	0.61162	0.654000	0.30846	0.655000	0.94253	CAG		0.463	RAPGEF6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000370059.1	NM_016340		73	268	0	0	0	0.01441	0	73	268					A	130766663	G	A	130766663	4	1	46	1	0	0	0	0	0	1	0	0	13048	1386	48	3	463	3	RAPGEF6	5	130766663	Nonsense_Mutation	SNP	G	TCGA-EJ-5496-01A-01D-1576-08	4799202	130766663	50148597	23	2501											
PDE6A	5145	broad.mit.edu	37	chr5	149247706	149247706	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atggctgagagatcacaggcGgtcatcatcatggccctggg	9	8	14	10	1	4	2	4	1	0	1	4	3	4	2	1	5	0	1	1	5	0	0			TCGA-EJ-5496-01A-01D-1576-08	TCGA-EJ-5496-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea9dfa9-b503-4f82-9fed-5b88c43074f8	5d8deeb6-3e5f-422d-b7ff-d35db9198e0d	g.chr5:149247706G>A	ENST00000255266.5	-	18	2270	c.2151C>T	c.(2149-2151)acC>acT	p.T717T		NM_000440.2	NP_000431.2	P16499	PDE6A_HUMAN	phosphodiesterase 6A, cGMP-specific, rod, alpha	717					cytosolic calcium ion homeostasis (GO:0051480)|GMP metabolic process (GO:0046037)|phototransduction, visible light (GO:0007603)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|retina development in camera-type eye (GO:0060041)|rhodopsin mediated signaling pathway (GO:0016056)|visual perception (GO:0007601)	photoreceptor disc membrane (GO:0097381)|plasma membrane (GO:0005886)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|metal ion binding (GO:0046872)	p.T717T(1)		breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	44			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		Caffeine(DB00201)	GATCACAGGCGGTCATCATCA	0.547																																						ENST00000255266.5																			1	Substitution - coding silent(1)	p.T717T(1)	prostate(1)	breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	44						c.(2149-2151)acC>acT		phosphodiesterase 6A, cGMP-specific, rod, alpha							133	114	120					5																	149247706		2203	4300	6503	SO:0001819	synonymous_variant	5145				cytosolic calcium ion homeostasis|GMP metabolic process|platelet activation|signal transduction|visual perception	cytosol|plasma membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding	g.chr5:149247706G>A		CCDS4299.1	5q31.2-q34	2013-02-14			ENSG00000132915	ENSG00000132915	3.1.4.17	"Phosphodiesterases"	8785	protein-coding gene	gene with protein product		180071		PDEA		2155175	Standard	NM_000440		Approved	RP43	uc003lrg.4	P16499	OTTHUMG00000130047	ENST00000255266.5:c.2151C>T	5.37:g.149247706G>A							p.T717T	NM_000440.2	NP_000431.2	P16499	PDE6A_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		18	2270	-			717					Q0P638	Silent	SNP	ENST00000255266.5	37	c.2151C>T	CCDS4299.1																																																																																				0.547	PDE6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252326.2			6	218	0	0	0	0.001168	0	6	218					A	149247706	G	A	149247706	2	1	46	1	0	0	0	0	0	0	0	1	11645	1103	39	2		2	PDE6A	5	149247706	Silent	SNP	G	TCGA-EJ-5496-01A-01D-1576-08	18481043	149247706	31667554	24	2502											
NSD1	64324	broad.mit.edu	37	chr5	176636871	176636871	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	aacattctgcagatgagaagGaaaagccttgcgctaaatct	15	9	9	8	1	2	2	0	1	2	2	2	4	2	3	1	1	4	2	1	1	6	3			TCGA-EJ-5496-01A-01D-1576-08	TCGA-EJ-5496-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea9dfa9-b503-4f82-9fed-5b88c43074f8	5d8deeb6-3e5f-422d-b7ff-d35db9198e0d	g.chr5:176636871G>A	ENST00000439151.2	+	5	1516	c.1471G>A	c.(1471-1473)Gaa>Aaa	p.E491K	NSD1_ENST00000361032.4_Missense_Mutation_p.E388K|NSD1_ENST00000354179.4_Missense_Mutation_p.E222K|NSD1_ENST00000347982.4_Missense_Mutation_p.E222K	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	491					gastrulation with mouth forming second (GO:0001702)|histone H3-K36 methylation (GO:0010452)|histone H4-K20 methylation (GO:0034770)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|estrogen receptor binding (GO:0030331)|histone methyltransferase activity (H3-K36 specific) (GO:0046975)|histone methyltransferase activity (H4-K20 specific) (GO:0042799)|retinoic acid receptor binding (GO:0042974)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription cofactor activity (GO:0003712)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)	p.E491K(3)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		AGATGAGAAGGAAAAGCCTTG	0.408			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)																												ENST00000439151.2				Dom	yes		5	5q35	64324	T	nuclear receptor binding SET domain protein 1	yes	Sotos Syndrome	L	NUP98		AML		3	Substitution - Missense(3)	p.E491K(3)	prostate(3)	NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96						c.(1471-1473)Gaa>Aaa		nuclear receptor binding SET domain protein 1							84	85	85					5																	176636871		2203	4300	6503	SO:0001583	missense	64324	Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	Familial Cancer Database	Weaver-Smith syndrome;Cerebral Gigantism;BWS, Exomphalos-Macroglossia-Gigantism (EMG) syndrome, Wiedemann-Beckwith syndrome, WBS	negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding	g.chr5:176636871G>A	AK026066	CCDS4412.1, CCDS4413.1	5q35	2014-09-17	2003-03-12		ENSG00000165671	ENSG00000165671		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	14234	protein-coding gene	gene with protein product		606681	"Sotos syndrome"	STO		9628876, 11896389	Standard	NM_022455		Approved	ARA267, FLJ22263, KMT3B	uc003mfr.4	Q96L73	OTTHUMG00000130846	ENST00000439151.2:c.1471G>A	5.37:g.176636871G>A	ENSP00000395929:p.Glu491Lys	HNSCC(47;0.14)				NSD1_ENST00000354179.4_Missense_Mutation_p.E222K|NSD1_ENST00000347982.4_Missense_Mutation_p.E222K|NSD1_ENST00000361032.4_Missense_Mutation_p.E388K	p.E491K	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)	5	1516	+	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	491					Q96PD8|Q96RN7	Missense_Mutation	SNP	ENST00000439151.2	37	c.1471G>A	CCDS4412.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.236323	0.79800	.	.	ENSG00000165671	ENST00000354179;ENST00000355783;ENST00000439151;ENST00000347982;ENST00000361032	D;D;D;D	0.93076	-3.06;-3.06;-3.06;-3.16	5.5	5.5	0.81552	.	0.188772	0.37483	N	0.002072	D	0.91192	0.7225	N	0.19112	0.55	0.33633	D	0.606269	P;P;P	0.51933	0.867;0.949;0.791	P;P;B	0.51615	0.542;0.675;0.34	D	0.92381	0.5913	9	.	.	.	.	17.1785	0.86848	0.0:0.0:1.0:0.0	.	222;388;491	Q96L73-2;Q96L73-3;Q96L73	.;.;NSD1_HUMAN	K	222;222;491;222;388	ENSP00000346111:E222K;ENSP00000395929:E491K;ENSP00000343209:E222K;ENSP00000354310:E388K	.	E	+	1	0	NSD1	176569477	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.773000	0.62331	2.587000	0.87381	0.591000	0.81541	GAA		0.408	NSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253412.2	NM_172349		29	115	0	0	0	0.007291	0	29	115					A	176636871	G	A	176636871	3	1	46	1	0	0	0	0	1	0	0	0	10669	1175	41	3	1485	3	NSD1	5	176636871	Missense_Mutation	SNP	G	TCGA-EJ-5496-01A-01D-1576-08	27389165	176636871	4278389	25	2503											
HIST1H1A	3024	broad.mit.edu	37	chr6	26017716	26017716	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcttaatgcccagcttaatgCggctgttgttcttctccacg	6	15	8	12	2	3	0	0	0	3	0	4	0	3	0	2	1	3	4	2	1	2	5			TCGA-EJ-5496-01A-01D-1576-08	TCGA-EJ-5496-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea9dfa9-b503-4f82-9fed-5b88c43074f8	5d8deeb6-3e5f-422d-b7ff-d35db9198e0d	g.chr6:26017716C>T	ENST00000244573.3	-	1	324	c.245G>A	c.(244-246)cGc>cAc	p.R82H		NM_005325.3	NP_005316.1	Q02539	H11_HUMAN	histone cluster 1, H1a	82	H15. {ECO:0000255|PROSITE- ProRule:PRU00837}.				nucleosome assembly (GO:0006334)|spermatogenesis (GO:0007283)	nuclear chromatin (GO:0000790)|nuclear euchromatin (GO:0005719)|nucleosome (GO:0000786)	chromatin DNA binding (GO:0031490)	p.R82H(1)		cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|ovary(3)|prostate(1)	13						CAGCTTAATGCGGCTGTTGTT	0.572																																						ENST00000244573.3																			1	Substitution - Missense(1)	p.R82H(1)	prostate(1)	cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|ovary(3)|prostate(1)	13						c.(244-246)cGc>cAc		histone cluster 1, H1a							71	74	73					6																	26017716		2203	4300	6503	SO:0001583	missense	3024				nucleosome assembly|spermatogenesis	nucleosome|nucleus	DNA binding	g.chr6:26017716C>T	AF531299	CCDS4569.1	6p22.1	2012-11-16	2006-10-11	2003-02-21	ENSG00000124610	ENSG00000124610		"Histones / Replication-dependent"	4715	protein-coding gene	gene with protein product		142709	"H1 histone family, member 1", "histone 1, H1a"	H1F1		2759094, 12408966	Standard	NM_005325		Approved	H1.1, H1a	uc003nfo.3	Q02539	OTTHUMG00000016413	ENST00000244573.3:c.245G>A	6.37:g.26017716C>T	ENSP00000244573:p.Arg82His						p.R82H	NM_005325.3	NP_005316.1	Q02539	H11_HUMAN			1	324	-			82			H15.		Q3MJ34	Missense_Mutation	SNP	ENST00000244573.3	37	c.245G>A	CCDS4569.1	.	.	.	.	.	.	.	.	.	.	N	35	5.571082	0.96553	.	.	ENSG00000124610	ENST00000244573	T	0.09445	2.98	4.2	4.2	0.49525	Histone H1/H5 (3);Winged helix-turn-helix transcription repressor DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.18509	0.0444	L	0.58354	1.805	0.80722	D	1	P	0.46784	0.884	P	0.60886	0.88	T	0.00567	-1.1667	10	0.48119	T	0.1	-14.9085	16.4244	0.83809	0.0:1.0:0.0:0.0	.	82	Q02539	H11_HUMAN	H	82	ENSP00000244573:R82H	ENSP00000244573:R82H	R	-	2	0	HIST1H1A	26125695	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	3.953000	0.56699	2.260000	0.74910	0.609000	0.83330	CGC		0.572	HIST1H1A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043884.1	NM_005325		6	83	0	0	0	0.001984	0	6	83					T	26017716	C	T	26017716	3	4	46	1	0	0	0	0	1	0	0	0	7122	768	27	1	406	1	HIST1H1A	6	26017716	Missense_Mutation	SNP	C	TCGA-EJ-5496-01A-01D-1576-08		26017716	145097351	26	2504											
MAN1A1	4121	broad.mit.edu	37	chr6	119510998	119510998	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aggccccctttccactctgcGatataagttagtccgctgct	7	12	8	14	2	1	0	0	0	1	0	3	1	3	0	4	1	2	3	4	1	3	4			TCGA-EJ-5496-01A-01D-1576-08	TCGA-EJ-5496-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea9dfa9-b503-4f82-9fed-5b88c43074f8	5d8deeb6-3e5f-422d-b7ff-d35db9198e0d	g.chr6:119510998G>A	ENST00000368468.3	-	10	1818	c.1377C>T	c.(1375-1377)atC>atT	p.I459I		NM_005907.3	NP_005898.2	P33908	MA1A1_HUMAN	mannosidase, alpha, class 1A, member 1	459					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|mannosidase activity (GO:0015923)|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity (GO:0004571)	p.I459I(2)		central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(2)|skin(3)	24		all_epithelial(87;0.173)		OV - Ovarian serous cystadenocarcinoma(136;0.0612)|GBM - Glioblastoma multiforme(226;0.0702)|all cancers(137;0.115)		TCCACTCTGCGATATAAGTTA	0.498																																					Ovarian(136;8 1825 12608 33541 47587)	ENST00000368468.3																			2	Substitution - coding silent(2)	p.I459I(2)	large_intestine(1)|prostate(1)	central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(2)|skin(3)	24						c.(1375-1377)atC>atT		mannosidase, alpha, class 1A, member 1							73	68	70					6																	119510998		2203	4300	6503	SO:0001819	synonymous_variant	4121				post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum|ER-Golgi intermediate compartment|Golgi membrane|integral to membrane|membrane fraction	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity	g.chr6:119510998G>A	AK025599	CCDS5122.1	6q22	2008-08-29			ENSG00000111885	ENSG00000111885	3.2.1.113		6821	protein-coding gene	gene with protein product		604344				8223597	Standard	NM_005907		Approved		uc003pym.2	P33908	OTTHUMG00000015472	ENST00000368468.3:c.1377C>T	6.37:g.119510998G>A							p.I459I	NM_005907.3	NP_005898.2	P33908	MA1A1_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.0612)|GBM - Glioblastoma multiforme(226;0.0702)|all cancers(137;0.115)	10	1818	-		all_epithelial(87;0.173)	459					E7EU32|Q6P052|Q9NU44|Q9UJI3	Silent	SNP	ENST00000368468.3	37	c.1377C>T	CCDS5122.1																																																																																				0.498	MAN1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042015.1	NM_005907		29	86	0	0	0	0.010818	0	29	86					A	119510998	G	A	119510998	2	1	46	1	0	0	0	0	0	0	0	1	9210	1048	37	2		2	MAN1A1	6	119510998	Silent	SNP	G	TCGA-EJ-5496-01A-01D-1576-08	93493282	119510998	51604069	27	2505											
MYCT1	80177	broad.mit.edu	37	chr6	153043291	153043291	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacttcccacagtctgagccGtcctgactactggtccagta	8	10	8	15	1	1	2	0	2	1	0	4	2	4	2	4	1	2	1	4	1	2	3	rs375330501		TCGA-EJ-5496-01A-01D-1576-08	TCGA-EJ-5496-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea9dfa9-b503-4f82-9fed-5b88c43074f8	5d8deeb6-3e5f-422d-b7ff-d35db9198e0d	g.chr6:153043291G>A	ENST00000367245.5	+	2	619	c.611G>A	c.(610-612)cGt>cAt	p.R204H	MYCT1_ENST00000529453.1_Intron	NM_025107.2	NP_079383.2	Q8N699	MYCT1_HUMAN	myc target 1	204						nucleus (GO:0005634)		p.R204H(1)		NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	20		Ovarian(120;0.0654)		OV - Ovarian serous cystadenocarcinoma(155;1.33e-10)|BRCA - Breast invasive adenocarcinoma(81;0.143)		AGTCTGAGCCGTCCTGACTAC	0.532																																						ENST00000367245.5																			1	Substitution - Missense(1)	p.R204H(1)	prostate(1)	NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	20						c.(610-612)cGt>cAt		myc target 1		G	HIS/ARG	3,4403	6.2+/-15.9	0,3,2200	111	106	108		611	5.8	0.5	6		108	0,8600		0,0,4300	no	missense	MYCT1	NM_025107.2	29	0,3,6500	AA,AG,GG		0.0,0.0681,0.0231	probably-damaging	204/236	153043291	3,13003	2203	4300	6503	SO:0001583	missense	80177					nucleus		g.chr6:153043291G>A	AF527367	CCDS5239.1	6q25.1	2008-02-05			ENSG00000120279	ENSG00000120279			23172	protein-coding gene	gene with protein product						12477932	Standard	NM_025107		Approved	MTLC, FLJ21269	uc003qpc.4	Q8N699	OTTHUMG00000015850	ENST00000367245.5:c.611G>A	6.37:g.153043291G>A	ENSP00000356214:p.Arg204His					MYCT1_ENST00000529453.1_Intron	p.R204H	NM_025107.2	NP_079383.2	Q8N699	MYCT1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;1.33e-10)|BRCA - Breast invasive adenocarcinoma(81;0.143)	2	619	+		Ovarian(120;0.0654)	204					Q8N396|Q8TBE8|Q9H763	Missense_Mutation	SNP	ENST00000367245.5	37	c.611G>A	CCDS5239.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.40|16.40	3.112581|3.112581	0.56398|0.56398	6.81E-4|6.81E-4	0.0|0.0	ENSG00000120279|ENSG00000120279	ENST00000367245|ENST00000532295	T|.	0.53857|.	0.6|.	5.8|5.8	5.8|5.8	0.92144|0.92144	.|.	0.166647|.	0.52532|.	D|.	0.000078|.	T|T	0.55752|0.55752	0.1940|0.1940	L|L	0.54323|0.54323	1.7|1.7	0.80722|0.80722	D|D	1|1	B;B|.	0.32939|.	0.391;0.391|.	B;B|.	0.24541|.	0.054;0.037|.	T|T	0.53027|0.53027	-0.8496|-0.8496	10|5	0.59425|.	D|.	0.04|.	-15.1274|-15.1274	14.2344|14.2344	0.65916|0.65916	0.071:0.0:0.929:0.0|0.071:0.0:0.929:0.0	.|.	156;204|.	D6Q1S4;Q8N699|.	.;MYCT1_HUMAN|.	H|I	204|185	ENSP00000356214:R204H|.	ENSP00000356214:R204H|.	R|V	+|+	2|1	0|0	MYCT1|MYCT1	153084984|153084984	0.837000|0.837000	0.29446|0.29446	0.470000|0.470000	0.27216|0.27216	0.982000|0.982000	0.71751|0.71751	1.575000|1.575000	0.36493|0.36493	2.736000|2.736000	0.93811|0.93811	0.591000|0.591000	0.81541|0.81541	CGT|GTC		0.532	MYCT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042750.2	NM_025107		25	139	0	0	0	0.021523	0	25	139					A	153043291	G	A	153043291	3	1	46	1	0	0	0	0	1	0	0	0	10022	1145	40	1	617	1	MYCT1	6	153043291	Missense_Mutation	SNP	G	TCGA-EJ-5496-01A-01D-1576-08	33532293	153043291	18071776	28	2506											
ZNRF2	223082	broad.mit.edu	37	chr7	30402036	30402036	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	taaatagatcttgccctgagCacccttcagattaagcgtca	12	11	7	11	1	3	3	2	1	1	2	3	3	3	3	2	0	3	1	2	0	4	5			TCGA-EJ-5496-01A-01D-1576-08	TCGA-EJ-5496-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea9dfa9-b503-4f82-9fed-5b88c43074f8	5d8deeb6-3e5f-422d-b7ff-d35db9198e0d	g.chr7:30402036C>A	ENST00000323037.4	+	4	1766	c.715C>A	c.(715-717)Cac>Aac	p.H239N		NM_147128.3	NP_667339.1	Q8NHG8	ZNRF2_HUMAN	zinc and ring finger 2	239						cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|endosome (GO:0005768)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|synapse (GO:0045202)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.H239N(1)		breast(1)|endometrium(1)|lung(2)|prostate(1)	5						TTGCCCTGAGCACCCTTCAGA	0.294																																						ENST00000323037.4																			1	Substitution - Missense(1)	p.H239N(1)	prostate(1)	breast(1)|endometrium(1)|lung(2)|prostate(1)	5						c.(715-717)Cac>Aac		zinc and ring finger 2							91	94	93					7																	30402036		2203	4300	6503	SO:0001583	missense	223082					cell junction|endosome membrane|lysosomal membrane|presynaptic membrane	ligase activity|zinc ion binding	g.chr7:30402036C>A	AF513707	CCDS5426.1	7p15.1	2013-01-09			ENSG00000180233	ENSG00000180233		"RING-type (C3HC4) zinc fingers"	22316	protein-coding gene	gene with protein product		612061					Standard	NM_147128		Approved	RNF202	uc003tat.3	Q8NHG8	OTTHUMG00000097759	ENST00000323037.4:c.715C>A	7.37:g.30402036C>A	ENSP00000323879:p.His239Asn						p.H239N	NM_147128.3	NP_667339.1	Q8NHG8	ZNRF2_HUMAN			4	1766	+			239						Missense_Mutation	SNP	ENST00000323037.4	37	c.715C>A	CCDS5426.1	.	.	.	.	.	.	.	.	.	.	C	15.09	2.729138	0.48833	.	.	ENSG00000180233	ENST00000323037;ENST00000319243	.	.	.	5.2	5.2	0.72013	Zinc finger, RING-type (2);	0.079254	0.49305	U	0.000152	T	0.79656	0.4483	M	0.74258	2.255	0.80722	D	1	D	0.71674	0.998	D	0.83275	0.996	T	0.82232	-0.0559	9	0.87932	D	0	-6.6561	17.7134	0.88328	0.0:1.0:0.0:0.0	.	239	Q8NHG8	ZNRF2_HUMAN	N	239;177	.	ENSP00000326497:H177N	H	+	1	0	ZNRF2	30368561	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	6.053000	0.71089	2.419000	0.82065	0.585000	0.79938	CAC		0.294	ZNRF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214992.1	NM_147128		19	106	1	0	8.34094e-07	0.008871	9.67065e-07	19	106					A	30402036	C	A	30402036	3	1	46	1	0	0	0	0	1	0	0	0	18209	710	25	5	729	5	ZNRF2	7	30402036	Missense_Mutation	SNP	C	TCGA-EJ-5496-01A-01D-1576-08		30402036	128736627	29	2507											
CSMD1	64478	broad.mit.edu	37	chr8	2830734	2830734	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gccccatttcacaggagaagCggagaagactctttgtctta	11	10	10	10	1	3	3	1	0	2	3	3	5	3	3	2	2	1	0	2	2	3	3	rs374773802		TCGA-EJ-5496-01A-01D-1576-08	TCGA-EJ-5496-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea9dfa9-b503-4f82-9fed-5b88c43074f8	5d8deeb6-3e5f-422d-b7ff-d35db9198e0d	g.chr8:2830734C>T	ENST00000520002.1	-	58	9386	c.8831G>A	c.(8830-8832)cGc>cAc	p.R2944H	CSMD1_ENST00000537824.1_Missense_Mutation_p.R2943H|CSMD1_ENST00000542608.1_Missense_Mutation_p.R2885H|CSMD1_ENST00000602723.1_Missense_Mutation_p.R2886H|CSMD1_ENST00000400186.3_Missense_Mutation_p.R2886H|CSMD1_ENST00000602557.1_Missense_Mutation_p.R2944H			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	2944	Sushi 22. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)		p.R2943H(1)|p.R2672H(1)		breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		ACAGGAGAAGCGGAGAAGACT	0.537													C|||	1	0.000199681	8e-04	0	5008	,	,		15379	0		0	False		,,,				2504	0					ENST00000520002.1																			2	Substitution - Missense(2)	p.R2943H(1)|p.R2672H(1)	prostate(2)	breast(20)|large_intestine(5)	25						c.(8830-8832)cGc>cAc		CUB and Sushi multiple domains 1		C	HIS/ARG	2,3898		0,2,1948	108	113	111		8828	5.2	0.9	8		111	0,8290		0,0,4145	no	missense	CSMD1	NM_033225.5	29	0,2,6093	TT,TC,CC		0.0,0.0513,0.0164	probably-damaging	2943/3565	2830734	2,12188	1950	4145	6095	SO:0001583	missense	64478					integral to membrane		g.chr8:2830734C>T			8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	14026	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 24"	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.8831G>A	8.37:g.2830734C>T	ENSP00000430733:p.Arg2944His					CSMD1_ENST00000602557.1_Missense_Mutation_p.R2944H|CSMD1_ENST00000542608.1_Missense_Mutation_p.R2885H|CSMD1_ENST00000400186.3_Missense_Mutation_p.R2886H|CSMD1_ENST00000537824.1_Missense_Mutation_p.R2943H|CSMD1_ENST00000602723.1_Missense_Mutation_p.R2886H	p.R2944H			Q96PZ7	CSMD1_HUMAN		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)	58	9386	-		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)	2944			Sushi 22.		Q0H0J5|Q96QU9|Q96RM4	Missense_Mutation	SNP	ENST00000520002.1	37	c.8831G>A		.	.	.	.	.	.	.	.	.	.	C	12.55	1.971520	0.34754	5.13E-4	0.0	ENSG00000183117	ENST00000400186;ENST00000520002;ENST00000318252;ENST00000537824;ENST00000542608	T;T;T;T	0.65916	-0.18;-0.18;-0.18;-0.18	5.21	5.21	0.72293	Complement control module (2);Sushi/SCR/CCP (3);	0.000000	0.85682	D	0.000000	T	0.70649	0.3248	L	0.33485	1.01	0.80722	D	1	D;B;D	0.89917	1.0;0.264;1.0	D;B;D	0.83275	0.983;0.178;0.996	T	0.66559	-0.5893	10	0.25106	T	0.35	.	18.7778	0.91918	0.0:1.0:0.0:0.0	.	2944;2944;2885	E5RIG2;Q96PZ7;F5H2I8	.;CSMD1_HUMAN;.	H	2886;2944;2805;2943;2885	ENSP00000383047:R2886H;ENSP00000430733:R2944H;ENSP00000441462:R2943H;ENSP00000446243:R2885H	ENSP00000320445:R2805H	R	-	2	0	CSMD1	2818141	1.000000	0.71417	0.916000	0.36221	0.184000	0.23303	5.678000	0.68153	2.423000	0.82170	0.655000	0.94253	CGC		0.537	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000374500.2	NM_033225		55	186	0	0	0	0.01441	0	55	186					T	2830734	C	T	2830734	3	4	46	1	0	0	0	0	1	0	0	0	3944	768	27	1	1922	1	CSMD1	8	2830734	Missense_Mutation	SNP	C	TCGA-EJ-5496-01A-01D-1576-08		2830734	143533288	30	2508											
RP1	6101	broad.mit.edu	37	chr8	55538481	55538481	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gaaaaaatctcgacagcaagCaataaattccaggtatcaag	19	7	7	8	1	2	0	1	0	1	0	4	2	3	0	1	1	2	3	1	1	9	3			TCGA-EJ-5496-01A-01D-1576-08	TCGA-EJ-5496-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea9dfa9-b503-4f82-9fed-5b88c43074f8	5d8deeb6-3e5f-422d-b7ff-d35db9198e0d	g.chr8:55538481C>T	ENST00000220676.1	+	4	2187	c.2039C>T	c.(2038-2040)gCa>gTa	p.A680V		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	680					axoneme assembly (GO:0035082)|cellular response to light stimulus (GO:0071482)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|photoreceptor cell outer segment organization (GO:0035845)|phototransduction, visible light (GO:0007603)|retinal cone cell development (GO:0046549)|retinal rod cell development (GO:0046548)|visual perception (GO:0007601)	axoneme (GO:0005930)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)	microtubule binding (GO:0008017)	p.A680V(1)		NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			CGACAGCAAGCAATAAATTCC	0.323																																					Colon(91;1014 1389 7634 14542 40420)	ENST00000220676.1																			1	Substitution - Missense(1)	p.A680V(1)	prostate(1)	NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169						c.(2038-2040)gCa>gTa		retinitis pigmentosa 1 (autosomal dominant)							38	39	39					8																	55538481		2202	4299	6501	SO:0001583	missense	6101				axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding	g.chr8:55538481C>T	AF146592	CCDS6160.1	8q12.1	2013-01-08				ENSG00000104237			10263	protein-coding gene	gene with protein product		603937				1783394	Standard	NM_006269		Approved	DCDC4A	uc003xsd.1	P56715		ENST00000220676.1:c.2039C>T	8.37:g.55538481C>T	ENSP00000220676:p.Ala680Val						p.A680V	NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)		4	2187	+		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	680						Missense_Mutation	SNP	ENST00000220676.1	37	c.2039C>T	CCDS6160.1	.	.	.	.	.	.	.	.	.	.	C	0.005	-2.216857	0.00286	.	.	ENSG00000104237	ENST00000220676	T	0.18657	2.2	5.93	1.84	0.25277	.	0.637755	0.13939	N	0.352326	T	0.03305	0.0096	N	0.00289	-1.7	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.38993	-0.9635	10	0.07644	T	0.81	.	1.5798	0.02632	0.1203:0.1629:0.2297:0.4871	.	680	P56715	RP1_HUMAN	V	680	ENSP00000220676:A680V	ENSP00000220676:A680V	A	+	2	0	RP1	55701034	0.001000	0.12720	0.005000	0.12908	0.014000	0.08584	0.341000	0.19909	0.420000	0.25954	-0.218000	0.12543	GCA		0.323	RP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378532.2	NM_006269		5	69	0	0	0	0.001168	0	5	69					T	55538481	C	T	55538481	3	4	46	1	0	0	0	0	1	0	0	0	13532	710	25	3	2049	3	RP1	8	55538481	Missense_Mutation	SNP	C	TCGA-EJ-5496-01A-01D-1576-08	52707747	55538481	90825541	31	2509											
PAX5	5079	broad.mit.edu	37	chr9	36923352	36923352	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	catgccccaggtgccctcacCtgtcacaatggggtaggact	8	8	11	14	0	2	0	2	0	0	0	2	1	2	1	4	4	2	1	4	4	2	1			TCGA-EJ-5496-01A-01D-1576-08	TCGA-EJ-5496-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea9dfa9-b503-4f82-9fed-5b88c43074f8	5d8deeb6-3e5f-422d-b7ff-d35db9198e0d	g.chr9:36923352C>A	ENST00000358127.4	-	7	984	c.910G>T	c.(910-912)Ggc>Tgc	p.G304C	PAX5_ENST00000414447.1_Splice_Site_p.G261C|PAX5_ENST00000377853.2_Splice_Site_p.G304C|PAX5_ENST00000377847.2_Splice_Site_p.G304C|PAX5_ENST00000520281.1_Splice_Site_p.G261C|PAX5_ENST00000520154.1_Intron|PAX5_ENST00000523145.1_Splice_Site_p.G196C|PAX5_ENST00000377852.2_Splice_Site_p.G304W|PAX5_ENST00000522003.1_Splice_Site_p.G196C|PAX5_ENST00000446742.1_Splice_Site_p.G238W|PAX5_ENST00000523241.1_Intron	NM_001280554.1|NM_001280556.1|NM_016734.1	NP_001267483.1|NP_001267485.1|NP_057953.1	Q02548	PAX5_HUMAN	paired box 5	304		Breakpoint for translocation to form PAX5-ZNF521.			humoral immune response (GO:0006959)|multicellular organismal development (GO:0007275)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|organ morphogenesis (GO:0009887)|skeletal muscle cell differentiation (GO:0035914)|spermatogenesis (GO:0007283)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)	p.?(23)|p.G304C(1)	PAX5/JAK2(18)	NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(151)|kidney(1)|lung(10)|prostate(1)|skin(1)	171		all_cancers(2;3.46e-10)|Acute lymphoblastic leukemia(2;7.09e-56)|all_hematologic(2;6.65e-44)		GBM - Glioblastoma multiforme(29;0.0108)		GTGCCCTCACCTGTCACAATG	0.607			"T, Mis, D, F, S"	"IGH@, ETV6, PML, FOXP1, ZNF521, ELN"	"NHL, ALL, B-ALL"																																	ENST00000358127.4				Dom	yes		9	9p13	5079	"T, Mis, D, F, S"	paired box gene 5 (B-cell lineage specific activator protein)			L	"IGH@, ETV6, PML, FOXP1, ZNF521, ELN"		"NHL, ALL, B-ALL"	PAX5/JAK2(18)	24	Unknown(23)|Substitution - Missense(1)	p.?(23)|p.G304C(1)	haematopoietic_and_lymphoid_tissue(23)|prostate(1)	NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(151)|kidney(1)|lung(10)|prostate(1)|skin(1)	171						c.e7+1		paired box 5							54	57	56					9																	36923352		2203	4299	6502	SO:0001630	splice_region_variant	5079				cell differentiation|humoral immune response|nervous system development|organ morphogenesis|spermatogenesis|transcription from RNA polymerase II promoter	nucleus	DNA binding	g.chr9:36923352C>A		CCDS6607.1, CCDS65039.1, CCDS65040.1, CCDS65041.1, CCDS65042.1, CCDS65043.1, CCDS65044.1, CCDS65045.1, CCDS65046.1, CCDS65047.1, CCDS65048.1	9p13.2	2011-06-20	2007-07-12		ENSG00000196092	ENSG00000196092		"Paired boxes", "Homeoboxes / PRD class"	8619	protein-coding gene	gene with protein product	"B-cell lineage specific activator"	167414	"paired box gene 5 (B-cell lineage specific activator protein)", "paired box gene 5 (B-cell lineage specific activator)"			1516825, 8431641	Standard	NM_016734		Approved	BSAP	uc003zzo.1	Q02548	OTTHUMG00000019907	ENST00000358127.4:c.910+1G>T	9.37:g.36923352C>A						PAX5_ENST00000523241.1_Intron|PAX5_ENST00000377847.2_Splice_Site_p.G304_splice|PAX5_ENST00000446742.1_Splice_Site_p.G238_splice|PAX5_ENST00000523145.1_Splice_Site_p.G196_splice|PAX5_ENST00000520154.1_Intron|PAX5_ENST00000520281.1_Splice_Site_p.G261_splice|PAX5_ENST00000414447.1_Splice_Site_p.G261_splice|PAX5_ENST00000522003.1_Splice_Site_p.G196_splice|PAX5_ENST00000377852.2_Splice_Site_p.G304_splice|PAX5_ENST00000377853.2_Splice_Site_p.G304_splice	p.G304_splice	NM_016734.1	NP_057953.1	Q02548	PAX5_HUMAN		GBM - Glioblastoma multiforme(29;0.0108)	7	984	-		all_cancers(2;3.46e-10)|Acute lymphoblastic leukemia(2;7.09e-56)|all_hematologic(2;6.65e-44)	304				Breakpoint for translocation to form PAX5-ZNF521.	A3QVP6|A3QVP7|A3QVP8|C0KTF6|C0KTF7|C0KTF8|C0KTF9|C0KTG0|O75933|Q5SFM2|Q6S728|Q6S729|Q6S730|Q6S731|Q6S732	Splice_Site	SNP	ENST00000358127.4	37	c.910_splice	CCDS6607.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	27.3|27.3	4.822234|4.822234	0.90873|0.90873	.|.	.|.	ENSG00000196092|ENSG00000196092	ENST00000358127;ENST00000377849;ENST00000377853;ENST00000520281;ENST00000522003;ENST00000523145;ENST00000414447;ENST00000377847;ENST00000524340|ENST00000377852;ENST00000446742	T;T;T;T;D;T;D;T|T;T	0.98164|0.43688	0.22;0.22;0.22;0.22;-2.61;0.22;-4.76;0.22|0.94;0.94	5.93|5.93	5.93|5.93	0.95920|0.95920	.|.	0.052589|0.052589	0.85682|0.85682	D|D	0.000000|0.000000	T|T	0.68924|0.68924	0.3054|0.3054	M|M	0.79693|0.79693	2.465|2.465	0.80722|0.80722	D|D	1|1	D;D;D;D;D;D|D;D	0.89917|0.89917	1.0;1.0;1.0;1.0;1.0;1.0|1.0;1.0	D;D;D;D;D;D|D;D	0.97110|0.97110	0.999;1.0;0.996;1.0;0.999;0.999|1.0;0.999	T|T	0.71251|0.71251	-0.4648|-0.4648	10|10	0.41790|0.87932	T|D	0.15|0	.|.	19.1082|19.1082	0.93305|0.93305	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	261;261;304;131;304;304|238;304	C0KTF8;C0KTF7;C0KTF6;C0KTE2;Q6S730;Q02548|C0KTF9;Q6S731	.;.;.;.;.;PAX5_HUMAN|.;.	C|W	304;215;304;261;196;196;261;304;131|304;238	ENSP00000350844:G304C;ENSP00000367084:G304C;ENSP00000430773:G261C;ENSP00000429359:G196C;ENSP00000429197:G196C;ENSP00000412188:G261C;ENSP00000367078:G304C;ENSP00000429404:G131C|ENSP00000367083:G304W;ENSP00000404687:G238W	ENSP00000350844:G304C|ENSP00000367083:G304W	G|G	-|-	1|1	0|0	PAX5|PAX5	36913352|36913352	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.983000|0.983000	0.72400|0.72400	6.657000|6.657000	0.74402|0.74402	2.805000|2.805000	0.96524|0.96524	0.655000|0.655000	0.94253|0.94253	GGC|GGG		0.607	PAX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052433.1		Missense_Mutation	40	131	1	0	3.54561e-26	0.009718	4.23356e-26	40	131					A	36923352	C	A	36923352	5	1	46	1	0	0	0	0	0	0	1	0	11482	695	24	5	281	5	PAX5	9	36923352	Splice_Site	SNP	C	TCGA-EJ-5496-01A-01D-1576-08		36923352	104290079	32	2510											
ZFAND5	7763	broad.mit.edu	37	chr9	74970894	74970894	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctctgaattttttcagccAcaacaactggattctctttt	9	18	4	10	0	3	1	1	1	2	0	5	2	3	2	1	1	3	0	1	1	3	7			TCGA-EJ-5496-01A-01D-1576-08	TCGA-EJ-5496-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea9dfa9-b503-4f82-9fed-5b88c43074f8	5d8deeb6-3e5f-422d-b7ff-d35db9198e0d	g.chr9:74970894A>C	ENST00000237937.3	-	6	1174	c.617T>G	c.(616-618)gTg>gGg	p.V206G	ZFAND5_ENST00000376960.4_Missense_Mutation_p.V206G|ZFAND5_ENST00000376962.5_Missense_Mutation_p.V206G|ZFAND5_ENST00000343431.2_Missense_Mutation_p.V206G|ZFAND5_ENST00000488164.1_5'UTR	NM_001102421.1|NM_001278243.1|NM_001278244.1|NM_001278245.1|NM_006007.2	NP_001095891.1|NP_001265172.1|NP_001265173.1|NP_001265174.1|NP_005998.1	O76080	ZFAN5_HUMAN	zinc finger, AN1-type domain 5	206					face development (GO:0060324)|fibroblast migration (GO:0010761)|in utero embryonic development (GO:0001701)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|respiratory system process (GO:0003016)|skeletal system morphogenesis (GO:0048705)|smooth muscle tissue development (GO:0048745)|vasculature development (GO:0001944)	cytoplasm (GO:0005737)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.V206G(1)		cervix(1)|kidney(2)|lung(2)|prostate(1)	6						TTTTTCAGCCACAACAACTGG	0.343																																						ENST00000237937.3																			1	Substitution - Missense(1)	p.V206G(1)	prostate(1)	cervix(1)|kidney(2)|lung(2)|prostate(1)	6						c.(616-618)gTg>gGg		zinc finger, AN1-type domain 5							62	60	60					9																	74970894		2202	4293	6495	SO:0001583	missense	0						DNA binding|zinc ion binding	g.chr9:74970894A>C	AF062072	CCDS6642.1	9q13-q21	2008-05-02	2006-07-07	2006-07-07	ENSG00000107372	ENSG00000107372		"Zinc fingers, AN1-type domain containing"	13008	protein-coding gene	gene with protein product		604761	"zinc finger protein 216", "zinc finger, A20 domain containing 2"	ZNF216, ZA20D2		9758550	Standard	NM_001278243		Approved	ZFAND5A	uc004aiy.2	O76080	OTTHUMG00000020008	ENST00000237937.3:c.617T>G	9.37:g.74970894A>C	ENSP00000237937:p.Val206Gly					ZFAND5_ENST00000376960.4_Missense_Mutation_p.V206G|ZFAND5_ENST00000343431.2_Missense_Mutation_p.V206G|ZFAND5_ENST00000376962.5_Missense_Mutation_p.V206G|ZFAND5_ENST00000488164.1_5'UTR	p.V206G	NM_001102421.1|NM_001278243.1|NM_001278244.1|NM_001278245.1|NM_006007.2	NP_001095891.1|NP_001265172.1|NP_001265173.1|NP_001265174.1|NP_005998.1	O76080	ZFAN5_HUMAN			6	1174	-			206					A8K484	Missense_Mutation	SNP	ENST00000237937.3	37	c.617T>G	CCDS6642.1	.	.	.	.	.	.	.	.	.	.	A	17.56	3.420761	0.62622	.	.	ENSG00000107372	ENST00000237937;ENST00000376960;ENST00000376962;ENST00000343431	.	.	.	5.99	5.99	0.97316	Zinc finger, AN1-type (1);	0.000000	0.85682	D	0.000000	T	0.77980	0.4212	M	0.70108	2.13	0.80722	D	1	D	0.89917	1.0	D	0.67103	0.949	T	0.80348	-0.1420	9	0.87932	D	0	-7.6087	16.4943	0.84223	1.0:0.0:0.0:0.0	.	206	O76080	ZFAN5_HUMAN	G	206	.	ENSP00000237937:V206G	V	-	2	0	ZFAND5	74160714	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.339000	0.96797	2.291000	0.77112	0.533000	0.62120	GTG		0.343	ZFAND5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052644.1			19	104	0	0	0	0.012319	0	19	104					C	74970894	A	C	74970894	3	2	46	1	0	0	0	0	1	0	0	0	17627	159	6	5	28	5	ZFAND5	9	74970894	Missense_Mutation	SNP	A	TCGA-EJ-5496-01A-01D-1576-08	38047542	74970894	66242537	33	2511											
HKDC1	80201	broad.mit.edu	37	chr10	71007216	71007216	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccagcatgtctgtaccatcGtctccttccgctcggccaat	6	12	7	16	3	2	0	0	0	2	0	7	0	4	0	5	1	2	3	5	1	2	2			TCGA-EJ-5496-01A-01D-1576-08	TCGA-EJ-5496-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea9dfa9-b503-4f82-9fed-5b88c43074f8	5d8deeb6-3e5f-422d-b7ff-d35db9198e0d	g.chr10:71007216G>A	ENST00000354624.5	+	9	1265	c.1132G>A	c.(1132-1134)Gtc>Atc	p.V378I	HKDC1_ENST00000395086.2_Missense_Mutation_p.V378I	NM_025130.3	NP_079406	Q2TB90	HKDC1_HUMAN	hexokinase domain containing 1	378	Hexokinase type-2 1.				carbohydrate phosphorylation (GO:0046835)|cellular glucose homeostasis (GO:0001678)|glucose 6-phosphate metabolic process (GO:0051156)|glycolytic process (GO:0006096)|hexose metabolic process (GO:0019318)	cytosol (GO:0005829)	ATP binding (GO:0005524)|fructokinase activity (GO:0008865)|glucokinase activity (GO:0004340)|mannokinase activity (GO:0019158)	p.V378I(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(11)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						CTGTACCATCGTCTCCTTCCG	0.582																																						ENST00000354624.5																			1	Substitution - Missense(1)	p.V378I(1)	prostate(1)	breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(11)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						c.(1132-1134)Gtc>Atc		hexokinase domain containing 1							111	105	107					10																	71007216		2203	4300	6503	SO:0001583	missense	80201				glycolysis	mitochondrion|nucleus	ATP binding|hexokinase activity	g.chr10:71007216G>A		CCDS7288.1	10q22.1	2006-10-24			ENSG00000156510	ENSG00000156510			23302	protein-coding gene	gene with protein product						12477932	Standard	NM_025130		Approved	FLJ37767, FLJ22761	uc001jpf.4	Q2TB90	OTTHUMG00000018371	ENST00000354624.5:c.1132G>A	10.37:g.71007216G>A	ENSP00000346643:p.Val378Ile					HKDC1_ENST00000395086.2_Missense_Mutation_p.V378I	p.V378I	NM_025130.3	NP_079406.3	Q2TB90	HKDC1_HUMAN			9	1265	+			378					B5MDN9|Q2TB91|Q5VTC7|Q7Z373|Q8WU37|Q96EH2|Q9H5Y9	Missense_Mutation	SNP	ENST00000354624.5	37	c.1132G>A	CCDS7288.1	.	.	.	.	.	.	.	.	.	.	G	30	5.054394	0.93793	.	.	ENSG00000156510	ENST00000354624;ENST00000395087;ENST00000395086	D;D	0.96716	-4.1;-4.1	4.84	4.84	0.62591	Hexokinase, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.96294	0.8791	L	0.50847	1.595	0.80722	D	1	D	0.64830	0.994	P	0.53224	0.721	D	0.96187	0.9135	10	0.49607	T	0.09	-31.6894	18.1044	0.89516	0.0:0.0:1.0:0.0	.	378	Q2TB90	HKDC1_HUMAN	I	378	ENSP00000346643:V378I;ENSP00000378521:V378I	ENSP00000346643:V378I	V	+	1	0	HKDC1	70677222	1.000000	0.71417	1.000000	0.80357	0.897000	0.52465	9.657000	0.98554	2.498000	0.84270	0.561000	0.74099	GTC		0.582	HKDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048389.1	NM_025130		13	90	0	0	0	0.016723	0	13	90					A	71007216	G	A	71007216	3	1	46	1	0	0	0	0	1	0	0	0	7193	1145	40	1	1166	1	HKDC1	10	71007216	Missense_Mutation	SNP	G	TCGA-EJ-5496-01A-01D-1576-08		71007216	64527531	34	2512											
TM7SF2	7108	broad.mit.edu	37	chr11	64880871	64880871	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ccccagtttcggccctggcaCctggggggaactcaggtgag	6	7	15	13	1	1	1	1	1	0	0	2	2	1	2	4	6	1	2	4	6	1	1			TCGA-EJ-5496-01A-01D-1576-08	TCGA-EJ-5496-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea9dfa9-b503-4f82-9fed-5b88c43074f8	5d8deeb6-3e5f-422d-b7ff-d35db9198e0d	g.chr11:64880871C>T	ENST00000279263.7	+	4	646	c.484C>T	c.(484-486)Cct>Tct	p.P162S	TM7SF2_ENST00000345348.5_Missense_Mutation_p.P162S|TM7SF2_ENST00000531029.1_3'UTR|AP003068.9_ENST00000528887.1_RNA|TM7SF2_ENST00000540748.1_Missense_Mutation_p.P46S	NM_003273.2	NP_003264.2	O76062	ERG24_HUMAN	transmembrane 7 superfamily member 2	162					cholesterol biosynthetic process (GO:0006695)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	delta14-sterol reductase activity (GO:0050613)	p.P162S(1)		lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						GGCCCTGGCACCTGGGGGGAA	0.587											OREG0021072	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000279263.7																			1	Substitution - Missense(1)	p.P162S(1)	prostate(1)	lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						c.(484-486)Cct>Tct		transmembrane 7 superfamily member 2							84	95	92					11																	64880871		1994	4152	6146	SO:0001583	missense	7108				cholesterol biosynthetic process	endoplasmic reticulum membrane|integral to plasma membrane	delta14-sterol reductase activity	g.chr11:64880871C>T	BC012857	CCDS41669.1, CCDS60846.1	11q13.1	2013-05-23			ENSG00000149809	ENSG00000149809	1.3.1.70		11863	protein-coding gene	gene with protein product	"delta(14)-sterol reductase"	603414				9615229, 9286704	Standard	NM_003273		Approved	ANG1, DHCR14A, NET47	uc001oct.4	O76062	OTTHUMG00000165603	ENST00000279263.7:c.484C>T	11.37:g.64880871C>T	ENSP00000279263:p.Pro162Ser		OREG0021072	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	134	TM7SF2_ENST00000540748.1_Missense_Mutation_p.P46S|TM7SF2_ENST00000345348.5_Missense_Mutation_p.P162S|TM7SF2_ENST00000531029.1_3'UTR	p.P162S	NM_003273.2	NP_003264.2	O76062	ERG24_HUMAN			4	646	+			162					A8K4H0|O95982|Q8IY06|Q96E64|Q96GZ1	Missense_Mutation	SNP	ENST00000279263.7	37	c.484C>T	CCDS41669.1	.	.	.	.	.	.	.	.	.	.	C	13.10	2.135651	0.37728	.	.	ENSG00000149809	ENST00000279263;ENST00000524986;ENST00000534371;ENST00000540748;ENST00000525385;ENST00000345348;ENST00000529414	D;D;D;D;D;D;D	0.97941	-4.62;-4.62;-4.62;-4.62;-4.62;-4.62;-4.62	4.81	4.81	0.61882	.	0.059313	0.64402	D	0.000003	D	0.95953	0.8682	M	0.65498	2.005	0.39304	D	0.964951	B;P;B	0.36789	0.082;0.57;0.425	B;B;B	0.36378	0.036;0.142;0.223	D	0.95709	0.8756	10	0.12103	T	0.63	-15.5827	15.4064	0.74881	0.0:1.0:0.0:0.0	.	46;162;162	F5GYV3;O76062-2;O76062	.;.;ERG24_HUMAN	S	162;133;94;46;133;162;162	ENSP00000279263:P162S;ENSP00000435972:P133S;ENSP00000432187:P94S;ENSP00000441215:P46S;ENSP00000433325:P133S;ENSP00000329520:P162S;ENSP00000433275:P162S	ENSP00000279263:P162S	P	+	1	0	TM7SF2	64637447	0.943000	0.32029	1.000000	0.80357	0.816000	0.46133	2.929000	0.48916	2.498000	0.84270	0.561000	0.74099	CCT		0.587	TM7SF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385234.1	NM_003273		55	170	0	0	0	0.01441	0	55	170					T	64880871	C	T	64880871	3	4	46	1	0	0	0	0	1	0	0	0	15971	507	18	3	498	3	TM7SF2	11	64880871	Missense_Mutation	SNP	C	TCGA-EJ-5496-01A-01D-1576-08		64880871	70125645	35	2513											
LRP6	4040	broad.mit.edu	37	chr12	12302059	12302059	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtatttccaggttctgactcGgaactgagctcacaaccaca	11	10	8	12	1	2	2	1	2	1	0	4	3	3	3	2	2	3	3	2	2	3	3			TCGA-EJ-5496-01A-01D-1576-08	TCGA-EJ-5496-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea9dfa9-b503-4f82-9fed-5b88c43074f8	5d8deeb6-3e5f-422d-b7ff-d35db9198e0d	g.chr12:12302059G>A	ENST00000261349.4	-	14	3099	c.3023C>T	c.(3022-3024)cCg>cTg	p.P1008L	LRP6_ENST00000543091.1_Missense_Mutation_p.P1008L	NM_002336.2	NP_002327.2	O75581	LRP6_HUMAN	low density lipoprotein receptor-related protein 6	1008	Beta-propeller 4.				anterior/posterior pattern specification (GO:0009952)|axis elongation involved in somitogenesis (GO:0090245)|bone morphogenesis (GO:0060349)|bone remodeling (GO:0046849)|branching involved in mammary gland duct morphogenesis (GO:0060444)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in cardiac neural crest cell differentiation involved in heart development (GO:0061310)|canonical Wnt signaling pathway involved in neural crest cell differentiation (GO:0044335)|canonical Wnt signaling pathway involved in positive regulation of cardiac outflow tract cell proliferation (GO:0061324)|canonical Wnt signaling pathway involved in regulation of cell proliferation (GO:0044340)|cell migration involved in gastrulation (GO:0042074)|cellular response to cholesterol (GO:0071397)|cerebellum morphogenesis (GO:0021587)|cerebral cortex cell migration (GO:0021795)|cerebral cortex development (GO:0021987)|convergent extension (GO:0060026)|dopaminergic neuron differentiation (GO:0071542)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic limb morphogenesis (GO:0030326)|embryonic pattern specification (GO:0009880)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|external genitalia morphogenesis (GO:0035261)|face morphogenesis (GO:0060325)|forebrain radial glial cell differentiation (GO:0021861)|formation of radial glial scaffolds (GO:0021943)|gastrulation with mouth forming second (GO:0001702)|heart looping (GO:0001947)|mammary placode formation (GO:0060596)|midbrain development (GO:0030901)|midbrain-hindbrain boundary development (GO:0030917)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of planar cell polarity pathway involved in cardiac muscle tissue morphogenesis (GO:2000151)|negative regulation of planar cell polarity pathway involved in cardiac right atrium morphogenesis (GO:2000162)|negative regulation of planar cell polarity pathway involved in neural tube closure (GO:2000168)|negative regulation of planar cell polarity pathway involved in outflow tract morphogenesis (GO:2000164)|negative regulation of planar cell polarity pathway involved in pericardium morphogenesis (GO:2000166)|negative regulation of planar cell polarity pathway involved in ventricular septum morphogenesis (GO:2000149)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|negative regulation of smooth muscle cell apoptotic process (GO:0034392)|neural crest cell differentiation (GO:0014033)|neural crest formation (GO:0014029)|neural tube closure (GO:0001843)|odontogenesis of dentin-containing tooth (GO:0042475)|palate development (GO:0060021)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of bone resorption (GO:0045780)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell cycle (GO:0045787)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of ossification (GO:0045778)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway involved in dorsal/ventral axis specification (GO:2000055)|post-anal tail morphogenesis (GO:0036342)|primitive streak formation (GO:0090009)|receptor-mediated endocytosis of low-density lipoprotein particle involved in cholesterol transport (GO:0090118)|regulation of cell development (GO:0060284)|regulation of fat cell differentiation (GO:0045598)|regulation of ossification (GO:0030278)|response to folic acid (GO:0051593)|response to peptide hormone (GO:0043434)|single organismal cell-cell adhesion (GO:0016337)|synaptic transmission (GO:0007268)|thalamus development (GO:0021794)|toxin transport (GO:1901998)|trachea cartilage morphogenesis (GO:0060535)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway involved in dorsal/ventral axis specification (GO:0044332)|Wnt signaling pathway involved in forebrain neuroblast division (GO:0021874)|Wnt signaling pathway involved in somitogenesis (GO:0090244)	cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|synapse (GO:0045202)	apolipoprotein binding (GO:0034185)|coreceptor activity involved in Wnt signaling pathway (GO:0071936)|frizzled binding (GO:0005109)|identical protein binding (GO:0042802)|kinase inhibitor activity (GO:0019210)|low-density lipoprotein receptor activity (GO:0005041)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|toxin transporter activity (GO:0019534)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)	p.P1008L(2)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	85		Prostate(47;0.0865)				GTTCTGACTCGGAACTGAGCT	0.433																																						ENST00000261349.4																			2	Substitution - Missense(2)	p.P1008L(2)	prostate(2)	breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	85						c.(3022-3024)cCg>cTg		low density lipoprotein receptor-related protein 6							168	169	169					12																	12302059		2203	4300	6503	SO:0001583	missense	4040				cellular response to cholesterol|negative regulation of protein phosphorylation|negative regulation of protein serine/threonine kinase activity|negative regulation of smooth muscle cell apoptosis|neural crest formation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell cycle|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	cell surface|cytoplasmic vesicle|endoplasmic reticulum|integral to membrane|plasma membrane	coreceptor activity|frizzled binding|kinase inhibitor activity|low-density lipoprotein receptor activity|protein homodimerization activity|toxin transporter activity|Wnt-protein binding	g.chr12:12302059G>A	AF074264	CCDS8647.1	12p13.2	2013-05-29			ENSG00000070018	ENSG00000070018		"Low density lipoprotein receptors"	6698	protein-coding gene	gene with protein product		603507				9704021	Standard	NM_002336		Approved	ADCAD2	uc001rah.4	O75581	OTTHUMG00000168540	ENST00000261349.4:c.3023C>T	12.37:g.12302059G>A	ENSP00000261349:p.Pro1008Leu					LRP6_ENST00000543091.1_Missense_Mutation_p.P1008L	p.P1008L	NM_002336.2	NP_002327.2	O75581	LRP6_HUMAN			14	3099	-		Prostate(47;0.0865)	1008			Beta-propeller 4.		Q17RZ2	Missense_Mutation	SNP	ENST00000261349.4	37	c.3023C>T	CCDS8647.1	.	.	.	.	.	.	.	.	.	.	G	11.38	1.621884	0.28889	.	.	ENSG00000070018	ENST00000261349;ENST00000543091	D;D	0.91237	-2.81;-2.81	5.91	5.91	0.95273	Six-bladed beta-propeller, TolB-like (1);	0.098576	0.43579	U	0.000559	T	0.79621	0.4477	N	0.02247	-0.625	0.48236	D	0.999618	B;B	0.27316	0.107;0.175	B;B	0.20577	0.026;0.03	T	0.75202	-0.3401	10	0.27785	T	0.31	.	20.3011	0.98612	0.0:0.0:1.0:0.0	.	1008;1008	F5H7J9;O75581	.;LRP6_HUMAN	L	1008	ENSP00000261349:P1008L;ENSP00000442472:P1008L	ENSP00000261349:P1008L	P	-	2	0	LRP6	12193326	1.000000	0.71417	0.928000	0.36995	0.239000	0.25481	3.476000	0.53143	2.804000	0.96469	0.650000	0.86243	CCG		0.433	LRP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400137.1			11	390	0	0	0	0.008291	0	11	390					A	12302059	G	A	12302059	3	1	46	1	0	0	0	0	1	0	0	0	8962	1116	39	2	1858	2	LRP6	12	12302059	Missense_Mutation	SNP	G	TCGA-EJ-5496-01A-01D-1576-08		12302059	121549836	36	2514											
ATF7IP	55729	broad.mit.edu	37	chr12	14649241	14649241	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgggatcaacaggacctcaGctcacagtgcatcaccgacc	11	6	9	15	1	4	0	4	0	0	0	4	3	4	2	3	2	3	2	3	2	1	0			TCGA-EJ-5496-01A-01D-1576-08	TCGA-EJ-5496-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea9dfa9-b503-4f82-9fed-5b88c43074f8	5d8deeb6-3e5f-422d-b7ff-d35db9198e0d	g.chr12:14649241G>C	ENST00000540793.1	+	13	3512	c.3357G>C	c.(3355-3357)caG>caC	p.Q1119H	ATF7IP_ENST00000261168.4_Missense_Mutation_p.Q1119H|ATF7IP_ENST00000536444.1_Missense_Mutation_p.Q1118H|ATF7IP_ENST00000544627.1_Missense_Mutation_p.Q1127H			Q6VMQ6	MCAF1_HUMAN	activating transcription factor 7 interacting protein	1119					DNA methylation (GO:0006306)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of RNA polymerase II transcriptional preinitiation complex assembly (GO:0045898)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	nucleus (GO:0005634)		p.Q1119H(1)		cervix(1)|endometrium(7)|kidney(5)|large_intestine(10)|liver(2)|lung(22)|ovary(1)|prostate(4)|skin(1)|urinary_tract(1)	54						CAGGACCTCAGCTCACAGTGC	0.383																																						ENST00000544627.1																			1	Substitution - Missense(1)	p.Q1119H(1)	prostate(1)	cervix(1)|endometrium(7)|kidney(5)|large_intestine(10)|liver(2)|lung(22)|ovary(1)|prostate(4)|skin(1)|urinary_tract(1)	54						c.(3379-3381)caG>caC		activating transcription factor 7 interacting protein							122	92	102					12																	14649241		2203	4300	6503	SO:0001583	missense	55729				DNA methylation|interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|regulation of RNA polymerase II transcriptional preinitiation complex assembly|transcription, DNA-dependent		protein binding	g.chr12:14649241G>C	AJ242978	CCDS8663.1, CCDS66326.1, CCDS66327.1, CCDS73449.1	12p13.1	2005-11-18				ENSG00000171681			20092	protein-coding gene	gene with protein product		613644				10976766, 10777215	Standard	XM_005253424		Approved	FLJ10688, p621	uc001rbw.3	Q6VMQ6		ENST00000540793.1:c.3357G>C	12.37:g.14649241G>C	ENSP00000444589:p.Gln1119His					ATF7IP_ENST00000536444.1_Missense_Mutation_p.Q1118H|ATF7IP_ENST00000540793.1_Missense_Mutation_p.Q1119H|ATF7IP_ENST00000261168.4_Missense_Mutation_p.Q1119H	p.Q1127H			Q6VMQ6	MCAF1_HUMAN			14	3701	+			1119					F5GX74|G3V1U0|Q4G0T9|Q6P3T3|Q86XW5|Q9NVJ9|Q9NWC2|Q9Y4X8	Missense_Mutation	SNP	ENST00000540793.1	37	c.3381G>C	CCDS8663.1	.	.	.	.	.	.	.	.	.	.	G	18.25	3.581413	0.65992	.	.	ENSG00000171681	ENST00000261168;ENST00000536444;ENST00000544627;ENST00000540793	T;T;T;T	0.20738	2.05;2.05;2.05;2.05	5.37	5.37	0.77165	.	0.000000	0.64402	D	0.000010	T	0.47060	0.1425	M	0.61703	1.905	0.58432	D	0.999999	D;D	0.76494	0.999;0.999	D;D	0.85130	0.997;0.997	T	0.40608	-0.9554	10	0.72032	D	0.01	-7.1868	19.4796	0.95003	0.0:0.0:1.0:0.0	.	1118;1119	G3V1U0;Q6VMQ6	.;MCAF1_HUMAN	H	1119;1118;1127;1119	ENSP00000261168:Q1119H;ENSP00000445955:Q1118H;ENSP00000440440:Q1127H;ENSP00000444589:Q1119H	ENSP00000261168:Q1119H	Q	+	3	2	ATF7IP	14540508	1.000000	0.71417	1.000000	0.80357	0.391000	0.30476	3.338000	0.52128	2.669000	0.90835	0.643000	0.83706	CAG		0.383	ATF7IP-024	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000401400.1	NM_018179		19	59	0	0	0	0.008871	0	19	59					C	14649241	G	C	14649241	3	2	46	1	0	0	0	0	1	0	0	0	1087	962	34	5	3407	5	ATF7IP	12	14649241	Missense_Mutation	SNP	G	TCGA-EJ-5496-01A-01D-1576-08	2347182	14649241	119202654	37	2515											
MGAT4C	25834	broad.mit.edu	37	chr12	86373542	86373542	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catccttcagcttattctccGtccctttgtatgatgaataa	9	16	5	11	1	2	2	1	2	1	0	5	2	4	2	3	0	1	2	3	0	4	6	rs145801611	byFrequency	TCGA-EJ-5496-01A-01D-1576-08	TCGA-EJ-5496-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea9dfa9-b503-4f82-9fed-5b88c43074f8	5d8deeb6-3e5f-422d-b7ff-d35db9198e0d	g.chr12:86373542G>A	ENST00000604798.1	-	8	2166	c.962C>T	c.(961-963)aCg>aTg	p.T321M	MGAT4C_ENST00000552808.2_Missense_Mutation_p.T321M|MGAT4C_ENST00000548651.1_Missense_Mutation_p.T321M|MGAT4C_ENST00000552435.2_Silent_p.D109D|MGAT4C_ENST00000393205.2_Missense_Mutation_p.T350M|MGAT4C_ENST00000549405.2_Missense_Mutation_p.T321M|MGAT4C_ENST00000332156.1_Missense_Mutation_p.T321M			Q9UBM8	MGT4C_HUMAN	MGAT4 family, member C	321					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity (GO:0008454)|metal ion binding (GO:0046872)	p.T321M(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						CTTATTCTCCGTCCCTTTGTA	0.403																																						ENST00000604798.1																			1	Substitution - Missense(1)	p.T321M(1)	prostate(1)	breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						c.(961-963)aCg>aTg		mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme C (putative)		G	MET/THR	0,4406	2.1+/-5.4	0,0,2203	79	77	77		962	2.9	0	12	dbSNP_134	77	10,8590	7.1+/-27.0	0,10,4290	yes	missense	MGAT4C	NM_013244.3	81	0,10,6493	AA,AG,GG		0.1163,0.0,0.0769	possibly-damaging	321/479	86373542	10,12996	2203	4300	6503	SO:0001583	missense	25834				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity|metal ion binding	g.chr12:86373542G>A		CCDS9030.1	12q21	2014-07-14	2014-07-14		ENSG00000182050	ENSG00000182050		"Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"	30871	protein-coding gene	gene with protein product		607385	"mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme C (putative)"			10570912	Standard	NM_013244		Approved	HGNT-IV-H	uc001tal.4	Q9UBM8	OTTHUMG00000169846	ENST00000604798.1:c.962C>T	12.37:g.86373542G>A	ENSP00000474896:p.Thr321Met					MGAT4C_ENST00000393205.2_Missense_Mutation_p.T350M|MGAT4C_ENST00000552808.2_Missense_Mutation_p.T321M|MGAT4C_ENST00000548651.1_Missense_Mutation_p.T321M|MGAT4C_ENST00000332156.1_Missense_Mutation_p.T321M|MGAT4C_ENST00000552435.2_Silent_p.D109D|MGAT4C_ENST00000549405.2_Missense_Mutation_p.T321M	p.T321M			Q9UBM8	MGT4C_HUMAN			8	2166	-			321					B4DRH2|Q4G199|Q9UIU5	Missense_Mutation	SNP	ENST00000604798.1	37	c.962C>T	CCDS9030.1	.	.	.	.	.	.	.	.	.	.	G	6.016	0.371253	0.11409	0.0	0.001163	ENSG00000182050	ENST00000332156;ENST00000393205;ENST00000549405;ENST00000550460;ENST00000552808;ENST00000548651;ENST00000547225	T;T;T;T;T;T	0.46819	0.86;0.86;0.86;0.86;0.86;0.86	5.75	2.87	0.33458	.	0.333197	0.30800	N	0.008846	T	0.40145	0.1105	L	0.58101	1.795	0.20703	N	0.999869	P;P	0.41848	0.763;0.643	B;B	0.38156	0.266;0.266	T	0.30937	-0.9961	10	0.56958	D	0.05	-15.6009	7.4525	0.27246	0.0659:0.1231:0.683:0.128	.	350;321	B4DRH2;Q9UBM8	.;MGT4C_HUMAN	M	321;350;321;321;321;321;321	ENSP00000331664:T321M;ENSP00000376900:T350M;ENSP00000449022:T321M;ENSP00000446647:T321M;ENSP00000447253:T321M;ENSP00000449172:T321M	ENSP00000331664:T321M	T	-	2	0	MGAT4C	84897673	1.000000	0.71417	0.006000	0.13384	0.001000	0.01503	5.731000	0.68554	0.328000	0.23435	-0.171000	0.13296	ACG		0.403	MGAT4C-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406212.2	NM_013244		8	162	0	0	0	0.00308	0	8	162					A	86373542	G	A	86373542	3	1	46	1	0	0	0	0	1	0	0	0	9547	1145	40	1	478	1	MGAT4C	12	86373542	Missense_Mutation	SNP	G	TCGA-EJ-5496-01A-01D-1576-08	71724301	86373542	47478353	38	2516											
APAF1	317	broad.mit.edu	37	chr12	99043447	99043447	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctgcagaagctgttagagatCattcccttttagaaggtaag	12	12	10	7	0	1	3	1	0	0	3	2	4	2	3	1	1	2	4	1	1	5	5			TCGA-EJ-5496-01A-01D-1576-08	TCGA-EJ-5496-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea9dfa9-b503-4f82-9fed-5b88c43074f8	5d8deeb6-3e5f-422d-b7ff-d35db9198e0d	g.chr12:99043447C>T	ENST00000551964.1	+	4	1247	c.511C>T	c.(511-513)Cat>Tat	p.H171Y	APAF1_ENST00000333991.1_Missense_Mutation_p.H171Y|APAF1_ENST00000357310.1_Missense_Mutation_p.H171Y|APAF1_ENST00000339433.3_Missense_Mutation_p.H171Y|APAF1_ENST00000549007.1_Missense_Mutation_p.H171Y|APAF1_ENST00000547045.1_Missense_Mutation_p.H171Y|APAF1_ENST00000550527.1_Missense_Mutation_p.H160Y|APAF1_ENST00000552268.1_Missense_Mutation_p.H171Y|APAF1_ENST00000359972.2_Missense_Mutation_p.H160Y	NM_181861.1	NP_863651.1	O14727	APAF_HUMAN	apoptotic peptidase activating factor 1	171	NB-ARC.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of cysteine-type endopeptidase activity involved in apoptotic process by cytochrome c (GO:0008635)|apoptotic process (GO:0006915)|forebrain development (GO:0030900)|intrinsic apoptotic signaling pathway (GO:0097193)|nervous system development (GO:0007399)|neural tube closure (GO:0001843)|neuron apoptotic process (GO:0051402)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|regulation of apoptotic DNA fragmentation (GO:1902510)|regulation of apoptotic process (GO:0042981)|response to G1 DNA damage checkpoint signaling (GO:0072432)	apoptosome (GO:0043293)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|nucleotide binding (GO:0000166)	p.H171Y(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(1)	42					Adenosine triphosphate(DB00171)	TGTTAGAGATCATTCCCTTTT	0.383																																						ENST00000357310.1																			1	Substitution - Missense(1)	p.H171Y(1)	prostate(1)	breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(1)	42						c.(511-513)Cat>Tat		apoptotic peptidase activating factor 1	Adenosine triphosphate(DB00171)						84	77	79					12																	99043447		2203	4300	6503	SO:0001583	missense	317				activation of caspase activity by cytochrome c|defense response|induction of apoptosis by intracellular signals|nervous system development	cytosol|Golgi apparatus|nucleus	ATP binding|caspase activator activity|protein binding	g.chr12:99043447C>T	AF013263	CCDS9069.1, CCDS9070.1, CCDS9071.1, CCDS55862.1, CCDS55863.1	12q23	2013-01-10	2006-10-23			ENSG00000120868		"WD repeat domain containing"	576	protein-coding gene	gene with protein product		602233	"apoptotic protease activating factor", "apoptotic peptidase activating factor"			9267021, 10702682	Standard	NM_181861		Approved	CED4, APAF-1	uc001tfz.3	O14727	OTTHUMG00000170214	ENST00000551964.1:c.511C>T	12.37:g.99043447C>T	ENSP00000448165:p.His171Tyr					APAF1_ENST00000550527.1_Missense_Mutation_p.H160Y|APAF1_ENST00000552268.1_Missense_Mutation_p.H171Y|APAF1_ENST00000551964.1_Missense_Mutation_p.H171Y|APAF1_ENST00000359972.2_Missense_Mutation_p.H160Y|APAF1_ENST00000339433.3_Missense_Mutation_p.H171Y|APAF1_ENST00000333991.1_Missense_Mutation_p.H171Y|APAF1_ENST00000547045.1_Missense_Mutation_p.H171Y|APAF1_ENST00000549007.1_Missense_Mutation_p.H171Y	p.H171Y	NM_181868.1	NP_863658.1	O14727	APAF_HUMAN			4	1088	+			171			NB-ARC.		B2RMX8|O43297|Q7Z438|Q9BXZ6|Q9UBZ5|Q9UGN8|Q9UGN9|Q9UGP0|Q9UJ58|Q9UJ59|Q9UJ60|Q9UJ61|Q9UJ62|Q9UJ63|Q9UJ64|Q9UJ65|Q9UJ66|Q9UJ67|Q9UNC9	Missense_Mutation	SNP	ENST00000551964.1	37	c.511C>T	CCDS9069.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.017739	0.75161	.	.	ENSG00000120868	ENST00000551964;ENST00000359972;ENST00000357310;ENST00000339433;ENST00000333991;ENST00000552268;ENST00000550527;ENST00000547045;ENST00000549007	T;T;T;T;T;T;T;T;T	0.76839	-1.05;-1.05;-1.05;-1.05;-1.05;-1.05;-1.05;-1.05;-1.05	5.55	4.65	0.58169	NB-ARC (1);	0.134889	0.64402	D	0.000002	T	0.81408	0.4816	L	0.53249	1.67	0.48830	D	0.999718	D;D;D;D;P	0.71674	0.984;0.998;0.996;0.986;0.926	P;D;P;P;P	0.64042	0.795;0.921;0.906;0.674;0.795	T	0.78183	-0.2303	10	0.02654	T	1	-8.4611	15.7191	0.77694	0.1381:0.8619:0.0:0.0	.	171;171;160;171;160	O14727-6;O14727-4;O14727-3;O14727;O14727-2	.;.;.;APAF_HUMAN;.	Y	171;160;171;171;171;171;160;171;171	ENSP00000448165:H171Y;ENSP00000353059:H160Y;ENSP00000349862:H171Y;ENSP00000341830:H171Y;ENSP00000334558:H171Y;ENSP00000448826:H171Y;ENSP00000448449:H160Y;ENSP00000449791:H171Y;ENSP00000448161:H171Y	ENSP00000334558:H171Y	H	+	1	0	APAF1	97567578	1.000000	0.71417	0.973000	0.42090	0.867000	0.49689	5.760000	0.68793	1.324000	0.45282	-0.181000	0.13052	CAT		0.383	APAF1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000408006.1	NM_181861.1		5	58	0	0	0	0.014758	0	5	58					T	99043447	C	T	99043447	3	4	46	1	0	0	0	0	1	0	0	0	755	826	29	3	521	3	APAF1	12	99043447	Missense_Mutation	SNP	C	TCGA-EJ-5496-01A-01D-1576-08	12669905	99043447	34808448	39	2517											
TUBA3C	7278	broad.mit.edu	37	chr13	19748209	19748209	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	agcccaggcctccgcgatggCcgtggtgttgctcagcatgc	5	8	14	14	3	1	0	1	0	0	0	2	1	2	0	4	3	4	3	4	3	0	1			TCGA-EJ-5496-01A-01D-1576-08	TCGA-EJ-5496-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea9dfa9-b503-4f82-9fed-5b88c43074f8	5d8deeb6-3e5f-422d-b7ff-d35db9198e0d	g.chr13:19748209C>T	ENST00000400113.3	-	5	1251	c.1147G>A	c.(1147-1149)Gcc>Acc	p.A383T		NM_006001.2	NP_005992.1	Q13748	TBA3C_HUMAN	tubulin, alpha 3c	383					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|microtubule-based process (GO:0007017)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)	p.A383T(1)		NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(4)|prostate(7)|skin(7)|urinary_tract(1)	72		all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108)		TCCGCGATGGCCGTGGTGTTG	0.637																																						ENST00000400113.3																			1	Substitution - Missense(1)	p.A383T(1)	prostate(1)	NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(4)|prostate(7)|skin(7)|urinary_tract(1)	72						c.(1147-1149)Gcc>Acc		tubulin, alpha 3c							92	82	86					13																	19748209		2203	4300	6503	SO:0001583	missense	7278				'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity	g.chr13:19748209C>T	AF005392	CCDS9284.1	13q12.11	2007-06-20	2007-02-12	2007-02-12	ENSG00000198033	ENSG00000198033		"Tubulins"	12408	protein-coding gene	gene with protein product		602528	"tubulin, alpha 2"	TUBA2		9465305	Standard	NM_006001		Approved	bA408E5.3	uc009zzj.3	Q13748	OTTHUMG00000016481	ENST00000400113.3:c.1147G>A	13.37:g.19748209C>T	ENSP00000382982:p.Ala383Thr						p.A383T	NM_006001.2	NP_005992.1	Q13748	TBA3C_HUMAN		all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108)	5	1251	-		all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162)	383					A6NJQ0|Q5W099|Q6PEY3|Q96F18	Missense_Mutation	SNP	ENST00000400113.3	37	c.1147G>A	CCDS9284.1	.	.	.	.	.	.	.	.	.	.	c	15.01	2.705932	0.48412	.	.	ENSG00000198033	ENST00000400113;ENST00000360801	D	0.84298	-1.83	1.22	1.22	0.21188	.	0.000000	0.46758	U	0.000267	D	0.86556	0.5961	.	.	.	0.44241	D	0.997085	.	.	.	.	.	.	D	0.85869	0.1415	7	0.87932	D	0	.	8.3643	0.32378	0.0:1.0:0.0:0.0	.	.	.	.	T	383	ENSP00000382982:A383T	ENSP00000354037:A383T	A	-	1	0	TUBA3C	18646209	1.000000	0.71417	0.930000	0.37139	0.923000	0.55619	6.342000	0.72982	0.982000	0.38575	0.194000	0.17425	GCC		0.637	TUBA3C-002	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044007.2	NM_006001		42	85	0	0	0	0.00874	0	42	85					T	19748209	C	T	19748209	3	4	46	1	0	0	0	0	1	0	0	0	16743	739	26	3	209	3	TUBA3C	13	19748209	Missense_Mutation	SNP	C	TCGA-EJ-5496-01A-01D-1576-08		19748209	95421669	40	2518											
FAM155A	728215	broad.mit.edu	37	chr13	107863055	107863055	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aattgtctttctgcagttaaActgtgtgacttcaaaatact	12	16	6	7	0	3	1	1	1	2	0	3	1	3	1	0	0	3	2	0	0	6	5			TCGA-EJ-5496-01A-01D-1576-08	TCGA-EJ-5496-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea9dfa9-b503-4f82-9fed-5b88c43074f8	5d8deeb6-3e5f-422d-b7ff-d35db9198e0d	g.chr13:107863055A>G	ENST00000375915.2	-	2	1102	c.964T>C	c.(964-966)Ttt>Ctt	p.F322L		NM_001080396.2	NP_001073865.1	B1AL88	F155A_HUMAN	family with sequence similarity 155, member A	322						integral component of membrane (GO:0016021)		p.F322L(1)		breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						CTGCAGTTAAACTGTGTGACT	0.408											OREG0022506	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000375915.2																			1	Substitution - Missense(1)	p.F322L(1)	prostate(1)	breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						c.(964-966)Ttt>Ctt		family with sequence similarity 155, member A							100	95	97					13																	107863055		2203	4300	6503	SO:0001583	missense	728215					integral to membrane	binding	g.chr13:107863055A>G	L10374	CCDS32006.1	13q33.3	2008-04-15			ENSG00000204442	ENSG00000204442			33877	protein-coding gene	gene with protein product							Standard	NM_001080396		Approved		uc001vql.3	B1AL88	OTTHUMG00000017326	ENST00000375915.2:c.964T>C	13.37:g.107863055A>G	ENSP00000365080:p.Phe322Leu		OREG0022506	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1407		p.F322L	NM_001080396.2	NP_001073865.1	B1AL88	F155A_HUMAN			2	1102	-			322					B2RUV1|B7Z334	Missense_Mutation	SNP	ENST00000375915.2	37	c.964T>C	CCDS32006.1	.	.	.	.	.	.	.	.	.	.	A	9.075	0.997927	0.19043	.	.	ENSG00000204442	ENST00000375915	T	0.10668	2.85	5.86	3.48	0.39840	.	0.532999	0.21098	N	0.080213	T	0.04363	0.0120	N	0.04508	-0.205	0.32090	N	0.591964	B	0.02656	0.0	B	0.01281	0.0	T	0.33954	-0.9848	10	0.11485	T	0.65	.	8.6927	0.34275	0.8436:0.0:0.1564:0.0	.	322	B1AL88	F155A_HUMAN	L	322	ENSP00000365080:F322L	ENSP00000365080:F322L	F	-	1	0	FAM155A	106661056	1.000000	0.71417	0.991000	0.47740	0.999000	0.98932	2.002000	0.40835	0.489000	0.27749	0.528000	0.53228	TTT		0.408	FAM155A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045736.2	NM_001080396		22	102	0	0	0	0.01892	0	22	102					G	107863055	A	G	107863055	3	3	46	1	0	0	0	0	1	0	0	0	5465	43	2	4	420	4	FAM155A	13	107863055	Missense_Mutation	SNP	A	TCGA-EJ-5496-01A-01D-1576-08	88114846	107863055	7306823	41	2519											
SIPA1L1	26037	broad.mit.edu	37	chr14	72152099	72152099	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gagttgctctgaaacctaccGcatgccagtgatggagtaca	11	9	11	10	1	1	2	0	2	1	0	1	4	1	3	3	1	5	4	3	1	3	3	rs141106111		TCGA-EJ-5496-01A-01D-1576-08	TCGA-EJ-5496-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea9dfa9-b503-4f82-9fed-5b88c43074f8	5d8deeb6-3e5f-422d-b7ff-d35db9198e0d	g.chr14:72152099G>A	ENST00000555818.1	+	10	3473	c.3125G>A	c.(3124-3126)cGc>cAc	p.R1042H	SIPA1L1_ENST00000381232.3_Missense_Mutation_p.R1042H|SIPA1L1_ENST00000537413.1_Missense_Mutation_p.R517H|SIPA1L1_ENST00000358550.2_Missense_Mutation_p.R1042H	NM_001284247.1|NM_015556.1	NP_001271176.1|NP_056371.1	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like 1	1042	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				actin cytoskeleton reorganization (GO:0031532)|activation of Rap GTPase activity (GO:0032861)|ephrin receptor signaling pathway (GO:0048013)|regulation of axonogenesis (GO:0050770)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of Rap GTPase activity (GO:0032317)|regulation of synaptic plasticity (GO:0048167)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	GTPase activator activity (GO:0005096)	p.R1042H(1)		NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		GAAACCTACCGCATGCCAGTG	0.448																																						ENST00000555818.1																			1	Substitution - Missense(1)	p.R1042H(1)	prostate(1)	NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78						c.(3124-3126)cGc>cAc		signal-induced proliferation-associated 1 like 1							176	173	174					14																	72152099		2203	4300	6503	SO:0001583	missense	26037				actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis	cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome	GTPase activator activity	g.chr14:72152099G>A	AB007900	CCDS9807.1, CCDS61490.1, CCDS61491.1	14q24.1	2003-12-11				ENSG00000197555			20284	protein-coding gene	gene with protein product						9858596	Standard	XM_005267514		Approved	KIAA0440, E6TP1	uc001xmr.1	O43166		ENST00000555818.1:c.3125G>A	14.37:g.72152099G>A	ENSP00000450832:p.Arg1042His					SIPA1L1_ENST00000381232.3_Missense_Mutation_p.R1042H|SIPA1L1_ENST00000537413.1_Missense_Mutation_p.R517H|SIPA1L1_ENST00000358550.2_Missense_Mutation_p.R1042H	p.R1042H	NM_015556.1	NP_056371.1	O43166	SI1L1_HUMAN		all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)	10	3473	+			1042			PDZ.		J3KP19|O95321|Q9UDU4|Q9UNU4	Missense_Mutation	SNP	ENST00000555818.1	37	c.3125G>A	CCDS9807.1	.	.	.	.	.	.	.	.	.	.	G	18.51	3.639098	0.67244	.	.	ENSG00000197555	ENST00000381232;ENST00000555818;ENST00000358550;ENST00000537413	T;T;T;T	0.63744	-0.06;-0.06;-0.06;-0.06	5.38	5.38	0.77491	PDZ/DHR/GLGF (1);	0.149124	0.64402	D	0.000009	T	0.68137	0.2968	N	0.17674	0.51	0.80722	D	1	B;B;B;B;D	0.76494	0.014;0.001;0.016;0.06;0.999	B;B;B;B;D	0.73380	0.031;0.001;0.009;0.019;0.98	T	0.68194	-0.5473	10	0.38643	T	0.18	-20.2921	19.4911	0.95050	0.0:0.0:1.0:0.0	.	517;1042;517;1042;1042	F5GYF8;A6H8W6;B4DYX7;O43166-2;O43166	.;.;.;.;SI1L1_HUMAN	H	1042;1042;1042;517	ENSP00000370630:R1042H;ENSP00000450832:R1042H;ENSP00000351352:R1042H;ENSP00000440682:R517H	ENSP00000351352:R1042H	R	+	2	0	SIPA1L1	71221852	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	6.949000	0.75971	2.670000	0.90874	0.561000	0.74099	CGC		0.448	SIPA1L1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412806.1	NM_015556		9	364	0	0	0	0.006214	0	9	364					A	72152099	G	A	72152099	3	1	46	1	0	0	0	0	1	0	0	0	14329	1087	38	1	3159	1	SIPA1L1	14	72152099	Missense_Mutation	SNP	G	TCGA-EJ-5496-01A-01D-1576-08		72152099	35197441	42	2520											
NIPA2	81614	broad.mit.edu	37	chr15	23006760	23006760	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gattacagagcagattgttaTgtacacaagaatgtttgtct	13	14	9	5	0	1	3	0	0	1	3	1	4	1	3	0	0	3	4	0	0	5	5	rs528251144		TCGA-EJ-5496-01A-01D-1576-08	TCGA-EJ-5496-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea9dfa9-b503-4f82-9fed-5b88c43074f8	5d8deeb6-3e5f-422d-b7ff-d35db9198e0d	g.chr15:23006760T>A	ENST00000337451.3	-	8	1156	c.544A>T	c.(544-546)Ata>Tta	p.I182L	NIPA2_ENST00000359727.4_Missense_Mutation_p.I163L|NIPA2_ENST00000539711.2_Missense_Mutation_p.I163L|NIPA2_ENST00000398013.3_Missense_Mutation_p.I182L|NIPA2_ENST00000398014.2_Missense_Mutation_p.I182L	NM_030922.6	NP_112184.4	Q8N8Q9	NIPA2_HUMAN	non imprinted in Prader-Willi/Angelman syndrome 2	182						early endosome (GO:0005769)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	magnesium ion transmembrane transporter activity (GO:0015095)	p.I163L(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(2)|prostate(4)|skin(1)	15		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;1.48e-06)|Epithelial(43;1.44e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000353)		CAGATTGTTATGTACACAAGA	0.502																																						ENST00000337451.3																			1	Substitution - Missense(1)	p.I163L(1)	prostate(1)	endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(2)|prostate(4)|skin(1)	15						c.(544-546)Ata>Tta		non imprinted in Prader-Willi/Angelman syndrome 2							74	65	68					15																	23006760		2203	4300	6503	SO:0001583	missense	81614					early endosome|integral to membrane|plasma membrane		g.chr15:23006760T>A	AY732242	CCDS73693.1, CCDS73694.1	15q11.2	2008-02-05			ENSG00000140157	ENSG00000140157			17044	protein-coding gene	gene with protein product		608146				14508708	Standard	NM_001008860		Approved		uc001yuz.3	Q8N8Q9	OTTHUMG00000129101	ENST00000337451.3:c.544A>T	15.37:g.23006760T>A	ENSP00000337618:p.Ile182Leu					NIPA2_ENST00000398014.2_Missense_Mutation_p.I182L|NIPA2_ENST00000539711.2_Missense_Mutation_p.I163L|NIPA2_ENST00000398013.3_Missense_Mutation_p.I182L|NIPA2_ENST00000359727.4_Missense_Mutation_p.I163L	p.I182L	NM_030922.6	NP_112184.4	Q8N8Q9	NIPA2_HUMAN		all cancers(64;1.48e-06)|Epithelial(43;1.44e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000353)	8	1156	-		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)	182					F8W7Y8|Q96F03|Q9BVS2	Missense_Mutation	SNP	ENST00000337451.3	37	c.544A>T	CCDS10010.1	.	.	.	.	.	.	.	.	.	.	T	27.2	4.813963	0.90790	.	.	ENSG00000140157	ENST00000337451;ENST00000398014;ENST00000359727;ENST00000539711;ENST00000398013	D;D;D;D	0.91124	-2.79;-2.79;-2.79;-2.76	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	D	0.90848	0.7125	L	0.48935	1.535	0.80722	D	1	B;P	0.44429	0.264;0.835	B;P	0.49477	0.263;0.612	D	0.90572	0.4523	10	0.44086	T	0.13	-15.5158	16.1778	0.81874	0.0:0.0:0.0:1.0	.	163;182	F8W7Y8;Q8N8Q9	.;NIPA2_HUMAN	L	182;182;163;182;163	ENSP00000337618:I182L;ENSP00000381096:I182L;ENSP00000352762:I163L;ENSP00000437746:I182L	ENSP00000337618:I182L	I	-	1	0	NIPA2	20558201	1.000000	0.71417	0.887000	0.34795	0.961000	0.63080	6.180000	0.71981	2.279000	0.76181	0.533000	0.62120	ATA		0.502	NIPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251137.1	NM_030922		3	74	0	0	0	0.004672	0	3	74					A	23006760	T	A	23006760	3	1	46	1	0	0	0	0	1	0	0	0	10423	1464	51	5	542	5	NIPA2	15	23006760	Missense_Mutation	SNP	T	TCGA-EJ-5496-01A-01D-1576-08		23006760	79524632	43	2521											
ACTC1	70	broad.mit.edu	37	chr15	35086889	35086889	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgggaagtttacctggtgccGcgggcggcccacgatggacg	6	6	17	12	6	0	0	0	0	0	0	0	3	0	2	3	5	2	1	3	5	2	2			TCGA-EJ-5496-01A-01D-1576-08	TCGA-EJ-5496-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea9dfa9-b503-4f82-9fed-5b88c43074f8	5d8deeb6-3e5f-422d-b7ff-d35db9198e0d	g.chr15:35086889G>A	ENST00000290378.4	-	2	776	c.121C>T	c.(121-123)Cgg>Tgg	p.R41W	RP11-814P5.1_ENST00000503496.1_RNA|ACTC1_ENST00000557860.1_5'Flank	NM_005159.4	NP_005150.1	P68032	ACTC_HUMAN	actin, alpha, cardiac muscle 1	41					actin filament-based movement (GO:0030048)|actin-myosin filament sliding (GO:0033275)|actomyosin structure organization (GO:0031032)|apoptotic process (GO:0006915)|ATP catabolic process (GO:0006200)|cardiac muscle contraction (GO:0060048)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|heart contraction (GO:0060047)|muscle filament sliding (GO:0030049)|negative regulation of apoptotic process (GO:0043066)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|skeletal muscle thin filament assembly (GO:0030240)	actin filament (GO:0005884)|actomyosin, actin portion (GO:0042643)|blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|I band (GO:0031674)|membrane (GO:0016020)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|myosin binding (GO:0017022)	p.R41W(1)		central_nervous_system(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	31		all_lung(180;2.3e-08)		all cancers(64;5.83e-19)|GBM - Glioblastoma multiforme(113;1.98e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0244)		ACCTGGTGCCGCGGGCGGCCC	0.672																																						ENST00000290378.4																			1	Substitution - Missense(1)	p.R41W(1)	prostate(1)	central_nervous_system(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	31						c.(121-123)Cgg>Tgg		actin, alpha, cardiac muscle 1							18	21	20					15																	35086889		2179	4268	6447	SO:0001583	missense	70				apoptosis|cardiac muscle tissue morphogenesis|cardiac myofibril assembly|muscle filament sliding|skeletal muscle thin filament assembly	actomyosin, actin part|cytosol|I band	ATP binding|ATPase activity|myosin binding	g.chr15:35086889G>A	BC009978	CCDS10041.1	15q14	2014-09-17	2006-08-24	2006-08-24	ENSG00000159251	ENSG00000159251			143	protein-coding gene	gene with protein product		102540	"actin, alpha, cardiac muscle"	ACTC		1639426	Standard	NM_005159		Approved	CMD1R	uc001ziu.1	P68032	OTTHUMG00000129675	ENST00000290378.4:c.121C>T	15.37:g.35086889G>A	ENSP00000290378:p.Arg41Trp					RP11-814P5.1_ENST00000503496.1_RNA	p.R41W	NM_005159.4	NP_005150.1	P68032	ACTC_HUMAN		all cancers(64;5.83e-19)|GBM - Glioblastoma multiforme(113;1.98e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0244)	2	776	-		all_lung(180;2.3e-08)	41					P04270	Missense_Mutation	SNP	ENST00000290378.4	37	c.121C>T	CCDS10041.1	.	.	.	.	.	.	.	.	.	.	G	19.91	3.913979	0.72983	.	.	ENSG00000159251	ENST00000290378;ENST00000544062	D	0.92699	-3.09	4.21	4.21	0.49690	.	0.000000	0.53938	U	0.000045	D	0.97015	0.9025	H	0.97291	3.975	0.58432	D	0.999999	D	0.65815	0.995	D	0.63957	0.92	D	0.97734	1.0204	10	0.87932	D	0	.	12.1272	0.53922	0.0:0.0:0.7815:0.2185	.	41	P68032	ACTC_HUMAN	W	41	ENSP00000290378:R41W	ENSP00000290378:R41W	R	-	1	2	ACTC1	32874181	1.000000	0.71417	0.995000	0.50966	0.974000	0.67602	3.054000	0.49908	2.064000	0.61679	0.561000	0.74099	CGG		0.672	ACTC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251876.3	NM_005159		9	47	0	0	0	0.010729	0	9	47					A	35086889	G	A	35086889	3	1	46	1	0	0	0	0	1	0	0	0	195	1086	38	1	1036	1	ACTC1	15	35086889	Missense_Mutation	SNP	G	TCGA-EJ-5496-01A-01D-1576-08	12080129	35086889	67444503	44	2522											
CIB2	10518	broad.mit.edu	37	chr15	78403582	78403582	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttcctgtagtccattgggacGaggttgggggccagctcata	7	11	14	9	1	1	0	1	0	0	0	3	2	3	1	3	4	1	3	3	4	2	5			TCGA-EJ-5496-01A-01D-1576-08	TCGA-EJ-5496-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea9dfa9-b503-4f82-9fed-5b88c43074f8	5d8deeb6-3e5f-422d-b7ff-d35db9198e0d	g.chr15:78403582G>A	ENST00000258930.3	-	3	451	c.123C>T	c.(121-123)ctC>ctT	p.L41L	CIB2_ENST00000557846.1_Intron|CIB2_ENST00000560618.1_5'UTR|CIB2_ENST00000539011.1_5'UTR	NM_006383.2	NP_006374.1	O75838	CIB2_HUMAN	calcium and integrin binding family member 2	41					calcium ion homeostasis (GO:0055074)|photoreceptor cell maintenance (GO:0045494)	blood microparticle (GO:0072562)|muscle tendon junction (GO:0005927)|neuromuscular junction (GO:0031594)|photoreceptor inner segment (GO:0001917)|sarcolemma (GO:0042383)	calcium ion binding (GO:0005509)	p.L41L(1)		NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)	11						CCATTGGGACGAGGTTGGGGG	0.607																																						ENST00000258930.3																			1	Substitution - coding silent(1)	p.L41L(1)	prostate(1)	NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)	11						c.(121-123)ctC>ctT		calcium and integrin binding family member 2							100	97	98					15																	78403582		2196	4293	6489	SO:0001819	synonymous_variant	10518						calcium ion binding	g.chr15:78403582G>A	BC047381	CCDS10296.1, CCDS61722.1, CCDS61723.1	15q24	2013-01-10			ENSG00000136425	ENSG00000136425		"EF-hand domain containing"	24579	protein-coding gene	gene with protein product		605564	"deafness, autosomal recessive 48", "Usher syndrome 1J (autosomal recessive)"	DFNB48, USH1J		9931475, 23023331	Standard	NM_006383		Approved	KIP2	uc002bdb.2	O75838	OTTHUMG00000143731	ENST00000258930.3:c.123C>T	15.37:g.78403582G>A						CIB2_ENST00000557846.1_Intron|CIB2_ENST00000539011.1_5'UTR|CIB2_ENST00000560618.1_5'UTR	p.L41L	NM_006383.2	NP_006374.1	O75838	CIB2_HUMAN			3	451	-			41					B4DDF0|H0YM71|Q05BT6	Silent	SNP	ENST00000258930.3	37	c.123C>T	CCDS10296.1																																																																																				0.607	CIB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000289798.1	NM_006383		7	128	0	0	0	0.001984	0	7	128					A	78403582	G	A	78403582	2	1	46	1	0	0	0	0	0	0	0	1	3421	1045	37	2		2	CIB2	15	78403582	Silent	SNP	G	TCGA-EJ-5496-01A-01D-1576-08	43316693	78403582	24127810	45	2523											
IREB2	3658	broad.mit.edu	37	chr15	78777134	78777134	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggcttccaaattgcagctgAaaaacaaaaggatattgtct	16	10	8	7	0	1	1	0	1	1	0	2	2	2	2	1	2	3	3	1	2	6	4			TCGA-EJ-5496-01A-01D-1576-08	TCGA-EJ-5496-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea9dfa9-b503-4f82-9fed-5b88c43074f8	5d8deeb6-3e5f-422d-b7ff-d35db9198e0d	g.chr15:78777134A>G	ENST00000258886.8	+	12	1594	c.1445A>G	c.(1444-1446)gAa>gGa	p.E482G	RP11-650L12.1_ENST00000560094.1_RNA	NM_004136.2	NP_004127	P48200	IREB2_HUMAN	iron-responsive element binding protein 2	482					aging (GO:0007568)|cellular iron ion homeostasis (GO:0006879)|cellular response to hypoxia (GO:0071456)|erythrocyte homeostasis (GO:0034101)|intestinal absorption (GO:0050892)|iron ion transport (GO:0006826)|osteoclast differentiation (GO:0030316)|post-embryonic development (GO:0009791)|protoporphyrinogen IX biosynthetic process (GO:0006782)|response to iron(II) ion (GO:0010040)|response to retinoic acid (GO:0032526)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)	4 iron, 4 sulfur cluster binding (GO:0051539)|iron-responsive element binding (GO:0030350)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)|translation repressor activity (GO:0030371)	p.E482G(1)		central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	41				UCEC - Uterine corpus endometrioid carcinoma (272;0.232)		ATTGCAGCTGAAAAACAAAAG	0.333																																					NSCLC(200;764 2208 35157 49871 50830)	ENST00000258886.8																			1	Substitution - Missense(1)	p.E482G(1)	prostate(1)	central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	41						c.(1444-1446)gAa>gGa		iron-responsive element binding protein 2							98	90	92					15																	78777134		2196	4293	6489	SO:0001583	missense	3658						4 iron, 4 sulfur cluster binding|metal ion binding|protein binding	g.chr15:78777134A>G	M58511	CCDS10302.1	15q25.1	2013-09-20			ENSG00000136381	ENSG00000136381			6115	protein-coding gene	gene with protein product		147582				2172968	Standard	NM_004136		Approved	IRP2	uc002bdr.2	P48200	OTTHUMG00000143861	ENST00000258886.8:c.1445A>G	15.37:g.78777134A>G	ENSP00000258886:p.Glu482Gly						p.E482G	NM_004136.2	NP_004127.1	P48200	IREB2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (272;0.232)	12	1594	+			482					A8KAC7|E1CJT9|H0YKU0|Q13095|Q1HE21|Q59FQ7|Q8WVK6|Q9UF17	Missense_Mutation	SNP	ENST00000258886.8	37	c.1445A>G	CCDS10302.1	.	.	.	.	.	.	.	.	.	.	A	17.88	3.496307	0.64186	.	.	ENSG00000136381	ENST00000258886	T	0.18016	2.24	5.72	5.72	0.89469	Aconitase/3-isopropylmalate dehydratase large subunit, alpha/beta/alpha, subdomain 1/3 (1);Aconitase/3-isopropylmalate dehydratase large subunit, alpha/beta/alpha (2);	0.086938	0.85682	D	0.000000	T	0.24812	0.0602	L	0.49640	1.575	0.80722	D	1	P	0.47484	0.896	P	0.46510	0.519	T	0.00706	-1.1601	10	0.59425	D	0.04	6.0076	16.2962	0.82776	1.0:0.0:0.0:0.0	.	482	P48200	IREB2_HUMAN	G	482	ENSP00000258886:E482G	ENSP00000258886:E482G	E	+	2	0	IREB2	76564189	1.000000	0.71417	0.997000	0.53966	0.983000	0.72400	9.065000	0.93941	2.304000	0.77564	0.528000	0.53228	GAA		0.333	IREB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000290109.3	NM_004136		3	139	0	0	0	0.004672	0	3	139					G	78777134	A	G	78777134	3	3	46	1	0	0	0	0	1	0	0	0	7826	246	9	4	1491	4	IREB2	15	78777134	Missense_Mutation	SNP	A	TCGA-EJ-5496-01A-01D-1576-08	373552	78777134	23754258	46	2524											
FANCI	55215	broad.mit.edu	37	chr15	89811688	89811688	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtcatgtggaaggcaccattAttctacacattgtgtttgcc	9	14	9	9	0	2	0	1	0	1	0	2	1	2	1	2	2	2	2	2	2	3	5			TCGA-EJ-5496-01A-01D-1576-08	TCGA-EJ-5496-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea9dfa9-b503-4f82-9fed-5b88c43074f8	5d8deeb6-3e5f-422d-b7ff-d35db9198e0d	g.chr15:89811688A>G	ENST00000310775.7	+	10	900	c.814A>G	c.(814-816)Att>Gtt	p.I272V	FANCI_ENST00000300027.8_Missense_Mutation_p.I272V	NM_001113378.1	NP_001106849.1	Q9NVI1	FANCI_HUMAN	Fanconi anemia, complementation group I	272					cell cycle (GO:0007049)|DNA repair (GO:0006281)|positive regulation of protein ubiquitination (GO:0031398)	membrane (GO:0016020)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|DNA polymerase binding (GO:0070182)	p.I272V(1)		breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	Lung NSC(78;0.0472)|all_lung(78;0.089)					AGGCACCATTATTCTACACAT	0.413								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																													ENST00000310775.7																			1	Substitution - Missense(1)	p.I272V(1)	prostate(1)	breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						c.(814-816)Att>Gtt	Involved in tolerance or repair of DNA crosslinks	Fanconi anemia, complementation group I							227	199	208					15																	89811688		2200	4299	6499	SO:0001583	missense	55215	Fanconi Anemia	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	cell cycle|DNA repair	nucleoplasm	protein binding	g.chr15:89811688A>G	BC004277	CCDS10349.2, CCDS45346.1	15q26.1	2014-09-17	2007-05-03	2007-05-03	ENSG00000140525	ENSG00000140525		"Fanconi anemia, complementation groups"	25568	protein-coding gene	gene with protein product		611360	"KIAA1794"	KIAA1794		14630800, 17460694, 17412408	Standard	NM_001113378		Approved	FLJ10719	uc010bnp.1	Q9NVI1	OTTHUMG00000132993	ENST00000310775.7:c.814A>G	15.37:g.89811688A>G	ENSP00000310842:p.Ile272Val					FANCI_ENST00000300027.8_Missense_Mutation_p.I272V	p.I272V	NM_001113378.1	NP_001106849.1	Q9NVI1	FANCI_HUMAN			10	900	+	Lung NSC(78;0.0472)|all_lung(78;0.089)		272					A4ZVE4|A5YMH4|A6NJZ0|Q96JN1|Q96ST0|Q9BT96	Missense_Mutation	SNP	ENST00000310775.7	37	c.814A>G	CCDS45346.1	.	.	.	.	.	.	.	.	.	.	A	15.00	2.703930	0.48412	.	.	ENSG00000140525	ENST00000300027;ENST00000310775;ENST00000447611	T;T;T	0.48201	0.82;0.82;0.82	4.68	4.68	0.58851	.	0.057562	0.64402	D	0.000002	T	0.50309	0.1608	M	0.76002	2.32	0.80722	D	1	B;P;P	0.37525	0.123;0.454;0.598	B;B;B	0.41374	0.084;0.269;0.355	T	0.54125	-0.8340	10	0.49607	T	0.09	-16.2137	9.5302	0.39189	0.9161:0.0:0.0839:0.0	.	272;272;272	Q9NVI1;Q9NVI1-2;Q9NVI1-1	FANCI_HUMAN;.;.	V	272	ENSP00000300027:I272V;ENSP00000310842:I272V;ENSP00000413249:I272V	ENSP00000300027:I272V	I	+	1	0	FANCI	87612692	1.000000	0.71417	0.887000	0.34795	0.947000	0.59692	5.717000	0.68446	1.741000	0.51731	0.459000	0.35465	ATT		0.413	FANCI-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421140.1	NM_018193		9	358	0	0	0	0.004482	0	9	358					G	89811688	A	G	89811688	3	3	46	1	0	0	0	0	1	0	0	0	5669	449	16	4	848	4	FANCI	15	89811688	Missense_Mutation	SNP	A	TCGA-EJ-5496-01A-01D-1576-08	11034554	89811688	12719704	47	2525											
PLCG2	5336	broad.mit.edu	37	chr16	81944188	81944188	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gagggcgggaccctgaaataCtacttgactgacaacctcac	12	7	10	12	1	1	3	1	3	0	0	1	5	1	4	2	2	3	0	2	2	4	3			TCGA-EJ-5496-01A-01D-1576-08	TCGA-EJ-5496-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea9dfa9-b503-4f82-9fed-5b88c43074f8	5d8deeb6-3e5f-422d-b7ff-d35db9198e0d	g.chr16:81944188C>T	ENST00000359376.3	+	18	2011	c.1797C>T	c.(1795-1797)taC>taT	p.Y599Y		NM_002661.3	NP_002652.2	P16885	PLCG2_HUMAN	phospholipase C, gamma 2 (phosphatidylinositol-specific)	599	SH2 1. {ECO:0000255|PROSITE- ProRule:PRU00191}.				B cell differentiation (GO:0030183)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|calcium-mediated signaling (GO:0019722)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|inositol phosphate metabolic process (GO:0043647)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid catabolic process (GO:0009395)|platelet activation (GO:0030168)|release of sequestered calcium ion into cytosol (GO:0051209)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)	p.Y599Y(3)		NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	58						CCCTGAAATACTACTTGACTG	0.647																																						ENST00000359376.3																			3	Substitution - coding silent(3)	p.Y599Y(3)	prostate(3)	NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	58						c.(1795-1797)taC>taT		phospholipase C, gamma 2 (phosphatidylinositol-specific)							147	163	157					16																	81944188		2149	4257	6406	SO:0001819	synonymous_variant	5336				intracellular signal transduction|phospholipid catabolic process|platelet activation	plasma membrane	phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity	g.chr16:81944188C>T		CCDS42204.1	16q24.1	2014-09-17				ENSG00000197943	3.1.4.11	"SH2 domain containing"	9066	protein-coding gene	gene with protein product		600220				7835906	Standard	XR_248240		Approved		uc002fgt.3	P16885		ENST00000359376.3:c.1797C>T	16.37:g.81944188C>T							p.Y599Y	NM_002661.3	NP_002652.2	P16885	PLCG2_HUMAN			18	2011	+			599			SH2 1.		D3DUL3|Q3ZTS2|Q59H45|Q969T5	Silent	SNP	ENST00000359376.3	37	c.1797C>T	CCDS42204.1																																																																																				0.647	PLCG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432429.1			6	230	0	0	0	0.001168	0	6	230					T	81944188	C	T	81944188	2	4	46	1	0	0	0	0	0	0	0	1	12036	576	20	3		3	PLCG2	16	81944188	Silent	SNP	C	TCGA-EJ-5496-01A-01D-1576-08		81944188	8410565	48	2526											
CCDC55	84081	broad.mit.edu	37	chr17	28512652	28512652	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cttggccaggcagatggcgcGggttaatgcaaagacctata	11	8	13	9	2	0	2	0	0	0	2	0	2	0	2	2	4	1	3	2	4	4	4	rs559964855		TCGA-EJ-5496-01A-01D-1576-08	TCGA-EJ-5496-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea9dfa9-b503-4f82-9fed-5b88c43074f8	5d8deeb6-3e5f-422d-b7ff-d35db9198e0d	g.chr17:28512652G>T	ENST00000247026.5	+	7	1700	c.1637G>T	c.(1636-1638)cGg>cTg	p.R546L	NSRP1_ENST00000540900.3_3'UTR	NM_001261467.1|NM_032141.3	NP_001248396.1|NP_115517.1	Q9H0G5	NSRP1_HUMAN	nuclear speckle splicing regulatory protein 1	546					developmental process (GO:0032502)|mRNA processing (GO:0006397)|nucleocytoplasmic transport (GO:0006913)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing (GO:0008380)	nuclear speck (GO:0016607)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)			autonomic_ganglia(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)	14						CAGATGGCGCGGGTTAATGCA	0.453																																						ENST00000247026.5																			0				autonomic_ganglia(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)	14						c.(1636-1638)cGg>cTg		nuclear speckle splicing regulatory protein 1							89	92	91					17																	28512652		2203	4300	6503	SO:0001583	missense	84081				developmental process|nucleocytoplasmic transport|regulation of alternative nuclear mRNA splicing, via spliceosome	nuclear speck|ribonucleoprotein complex	mRNA binding|protein binding	g.chr17:28512652G>T	AL136806	CCDS11255.1, CCDS74025.1	17q11.2	2011-05-24	2011-05-24	2011-05-24	ENSG00000126653	ENSG00000126653			25305	protein-coding gene	gene with protein product			"coiled-coil domain containing 55"	CCDC55		11230166	Standard	NM_032141		Approved	DKFZP434K1421, NSrp70	uc002heu.4	Q9H0G5	OTTHUMG00000132754	ENST00000247026.5:c.1637G>T	17.37:g.28512652G>T	ENSP00000247026:p.Arg546Leu					NSRP1_ENST00000540900.3_3'UTR	p.R546L	NM_001261467.1|NM_032141.3	NP_001248396.1|NP_115517.1	Q9H0G5	NSRP1_HUMAN			7	1700	+			546					Q6FI71	Missense_Mutation	SNP	ENST00000247026.5	37	c.1637G>T	CCDS11255.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.143392	0.77888	.	.	ENSG00000126653	ENST00000247026;ENST00000540900	T	0.78003	-1.14	5.7	4.73	0.59995	.	0.062012	0.64402	D	0.000003	D	0.85496	0.5710	M	0.68593	2.085	0.80722	D	1	D	0.76494	0.999	D	0.65987	0.94	D	0.87114	0.2187	10	0.87932	D	0	-0.0404	13.9326	0.64006	0.0729:0.0:0.9271:0.0	.	546	Q9H0G5	NSRP1_HUMAN	L	546;477	ENSP00000247026:R546L	ENSP00000247026:R546L	R	+	2	0	NSRP1	25536778	1.000000	0.71417	0.978000	0.43139	0.745000	0.42441	9.384000	0.97219	1.425000	0.47237	0.557000	0.71058	CGG		0.453	NSRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256121.2	NM_032141		4	172	1	0	0.00909568	0.009096	0.0102487	4	172					T	28512652	G	T	28512652	3	4	46	1	0	0	0	0	1	0	0	0	2825	1116	39	5	1663	5	CCDC55	17	28512652	Missense_Mutation	SNP	G	TCGA-EJ-5496-01A-01D-1576-08		28512652	52682558	49	2527											
NF1	4763	broad.mit.edu	37	chr17	29528486	29528486	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atgtgctggtaaattcactcCatcgaatcatcaccaatgta	13	12	6	10	1	3	0	3	0	0	0	5	1	4	0	2	1	1	3	2	1	5	3			TCGA-EJ-5496-01A-01D-1576-08	TCGA-EJ-5496-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea9dfa9-b503-4f82-9fed-5b88c43074f8	5d8deeb6-3e5f-422d-b7ff-d35db9198e0d	g.chr17:29528486C>T	ENST00000358273.4	+	11	1626	c.1243C>T	c.(1243-1245)Cat>Tat	p.H415Y	NF1_ENST00000431387.4_Missense_Mutation_p.H415Y|NF1_ENST00000356175.3_Missense_Mutation_p.H415Y	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	415					actin cytoskeleton organization (GO:0030036)|adrenal gland development (GO:0030325)|artery morphogenesis (GO:0048844)|brain development (GO:0007420)|camera-type eye morphogenesis (GO:0048593)|cell communication (GO:0007154)|cerebral cortex development (GO:0021987)|cognition (GO:0050890)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|forebrain astrocyte development (GO:0021897)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|liver development (GO:0001889)|MAPK cascade (GO:0000165)|metanephros development (GO:0001656)|myelination in peripheral nervous system (GO:0022011)|negative regulation of angiogenesis (GO:0016525)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of neurotransmitter secretion (GO:0046929)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of transcription factor import into nucleus (GO:0042992)|neural tube development (GO:0021915)|osteoblast differentiation (GO:0001649)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|pigmentation (GO:0043473)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of bone resorption (GO:0045124)|regulation of cell-matrix adhesion (GO:0001952)|regulation of glial cell differentiation (GO:0045685)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of Ras GTPase activity (GO:0032318)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to hypoxia (GO:0001666)|Schwann cell development (GO:0014044)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|visual learning (GO:0008542)|wound healing (GO:0042060)	axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)|nucleus (GO:0005634)	phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|Ras GTPase activator activity (GO:0005099)	p.0?(8)|p.?(6)|p.H415Y(2)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		AAATTCACTCCATCGAATCAT	0.303			"D, Mis, N, F, S, O"		"neurofibroma, glioma"	"neurofibroma, glioma"			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)																												ENST00000358273.4			yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	"D, Mis, N, F, S, O"	neurofibromatosis type 1 gene			O		"neurofibroma, glioma"	"neurofibroma, glioma"	NF1/ACCN1(2)	16	Whole gene deletion(8)|Unknown(6)|Substitution - Missense(2)	p.0?(8)|p.?(6)|p.H415Y(2)	soft_tissue(7)|autonomic_ganglia(3)|central_nervous_system(3)|prostate(2)|lung(1)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599						c.(1243-1245)Cat>Tat		neurofibromin 1							86	96	93					17																	29528486		2203	4294	6497	SO:0001583	missense	4763	Neurofibromatosis, type 1	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome	actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	g.chr17:29528486C>T		CCDS11264.1, CCDS42292.1, CCDS45645.1	17q11.2	2014-09-17	2008-07-31		ENSG00000196712	ENSG00000196712			7765	protein-coding gene	gene with protein product	"neurofibromatosis", "von Recklinghausen disease", "Watson disease"	613113				1715669	Standard	NM_000267		Approved		uc002hgg.3	P21359	OTTHUMG00000132871	ENST00000358273.4:c.1243C>T	17.37:g.29528486C>T	ENSP00000351015:p.His415Tyr	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)				NF1_ENST00000356175.3_Missense_Mutation_p.H415Y|NF1_ENST00000431387.4_Missense_Mutation_p.H415Y	p.H415Y	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)	11	1626	+		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)	415					O00662|Q14284|Q14930|Q14931|Q9UMK3	Missense_Mutation	SNP	ENST00000358273.4	37	c.1243C>T	CCDS42292.1	.	.	.	.	.	.	.	.	.	.	C	2.566	-0.300741	0.05495	.	.	ENSG00000196712	ENST00000431387;ENST00000358273;ENST00000356175;ENST00000456735	T;T;T;T	0.80653	-1.4;-1.4;-1.4;-1.4	5.17	5.17	0.71159	Armadillo-type fold (1);	0.047722	0.85682	D	0.000000	T	0.80110	0.4563	N	0.25380	0.74	0.80722	D	1	B;D;B;D;D	0.56968	0.007;0.978;0.024;0.977;0.977	B;P;B;P;P	0.61328	0.003;0.887;0.01;0.709;0.709	T	0.73861	-0.3849	10	0.02654	T	1	.	18.6538	0.91441	0.0:1.0:0.0:0.0	.	415;415;415;415;415	E1P657;P21359-2;P21359;Q14931;P21359-3	.;.;NF1_HUMAN;.;.	Y	415;415;415;81	ENSP00000412921:H415Y;ENSP00000351015:H415Y;ENSP00000348498:H415Y;ENSP00000389907:H81Y	ENSP00000348498:H415Y	H	+	1	0	NF1	26552612	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	5.440000	0.66563	2.412000	0.81896	0.491000	0.48974	CAT		0.303	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256351.2	NM_000267		5	286	0	0	0	0.001168	0	5	286					T	29528486	C	T	29528486	3	4	46	1	0	0	0	0	1	0	0	0	10356	594	21	3	1285	3	NF1	17	29528486	Missense_Mutation	SNP	C	TCGA-EJ-5496-01A-01D-1576-08	1015834	29528486	51666724	50	2528											
UBTF	7343	broad.mit.edu	37	chr17	42293127	42293127	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tacttggcccgcttctccatGaagaagcggaaataaggggt	11	9	12	9	2	1	2	0	1	1	1	2	3	1	3	2	4	2	1	2	4	5	4			TCGA-EJ-5496-01A-01D-1576-08	TCGA-EJ-5496-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea9dfa9-b503-4f82-9fed-5b88c43074f8	5d8deeb6-3e5f-422d-b7ff-d35db9198e0d	g.chr17:42293127G>A	ENST00000302904.4	-	5	861	c.369C>T	c.(367-369)ttC>ttT	p.F123F	UBTF_ENST00000343638.5_Silent_p.F123F|UBTF_ENST00000533177.1_Silent_p.F123F|CTB-175E5.7_ENST00000586560.1_RNA|UBTF_ENST00000526094.1_Silent_p.F123F|UBTF_ENST00000529383.1_Silent_p.F123F|UBTF_ENST00000527034.1_Silent_p.F123F|UBTF_ENST00000393606.3_Silent_p.F123F|UBTF_ENST00000537550.1_5'UTR|UBTF_ENST00000436088.1_Silent_p.F123F			P17480	UBF1_HUMAN	upstream binding transcription factor, RNA polymerase I	123					chromatin silencing at rDNA (GO:0000183)|gene expression (GO:0010467)|positive regulation of transcription from RNA polymerase I promoter (GO:0045943)|regulation of transcription from RNA polymerase I promoter (GO:0006356)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)	p.F123F(1)|p.F123delF(1)		breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(10)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Breast(137;0.00765)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.114)		GCTTCTCCATGAAGAAGCGGA	0.493																																						ENST00000302904.4																			2	Substitution - coding silent(1)|Deletion - In frame(1)	p.F123F(1)|p.F123delF(1)	prostate(1)|central_nervous_system(1)	breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(10)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(367-369)ttC>ttT		upstream binding transcription factor, RNA polymerase I							93	98	96					17																	42293127		2203	4300	6503	SO:0001819	synonymous_variant	7343				positive regulation of transcription from RNA polymerase I promoter|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	nucleolus|nucleoplasm	DNA binding|protein binding	g.chr17:42293127G>A	BC042297	CCDS11480.1, CCDS42346.1	17q21.31	2014-03-25			ENSG00000108312	ENSG00000108312			12511	protein-coding gene	gene with protein product		600673				9126496	Standard	NM_001076683		Approved	UBF, NOR-90, UBF1, UBF2	uc010czs.3	P17480	OTTHUMG00000167585	ENST00000302904.4:c.369C>T	17.37:g.42293127G>A						UBTF_ENST00000527034.1_Silent_p.F123F|CTB-175E5.7_ENST00000586560.1_RNA|UBTF_ENST00000529383.1_Silent_p.F123F|UBTF_ENST00000343638.5_Silent_p.F123F|UBTF_ENST00000537550.1_5'UTR|UBTF_ENST00000526094.1_Silent_p.F123F|UBTF_ENST00000436088.1_Silent_p.F123F|UBTF_ENST00000393606.3_Silent_p.F123F|UBTF_ENST00000533177.1_Silent_p.F123F	p.F123F			P17480	UBF1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.114)	5	861	-		Breast(137;0.00765)|Prostate(33;0.0181)	123					A8K6R8	Silent	SNP	ENST00000302904.4	37	c.369C>T	CCDS11480.1																																																																																				0.493	UBTF-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395205.1	NM_014233		51	138	0	0	0	0.01441	0	51	138					A	42293127	G	A	42293127	2	1	46	1	0	0	0	0	0	0	0	1	16906	1281	45	3		3	UBTF	17	42293127	Silent	SNP	G	TCGA-EJ-5496-01A-01D-1576-08	12764641	42293127	38902083	51	2529											
SLC16A6	9120	broad.mit.edu	37	chr17	66267452	66267452	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttcaaaatggagaagtctaaTagcggggctttcttttcgct	10	14	10	7	2	3	1	1	0	2	1	4	2	3	1	0	3	1	2	0	3	5	6			TCGA-EJ-5496-01A-01D-1576-08	TCGA-EJ-5496-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea9dfa9-b503-4f82-9fed-5b88c43074f8	5d8deeb6-3e5f-422d-b7ff-d35db9198e0d	g.chr17:66267452T>C	ENST00000327268.4	-	6	1013	c.849A>G	c.(847-849)ctA>ctG	p.L283L	SLC16A6_ENST00000580666.1_Silent_p.L283L|ARSG_ENST00000448504.2_Intron	NM_001174166.1	NP_001167637.1	O15403	MOT7_HUMAN	solute carrier family 16, member 6	283					monocarboxylic acid transport (GO:0015718)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	monocarboxylic acid transmembrane transporter activity (GO:0008028)|symporter activity (GO:0015293)	p.L283L(1)		large_intestine(3)|lung(8)|prostate(1)|skin(1)|urinary_tract(2)	15	all_cancers(12;1.24e-09)		BRCA - Breast invasive adenocarcinoma(8;3.17e-08)|LUSC - Lung squamous cell carcinoma(166;0.24)		Pyruvic acid(DB00119)	AGAAGTCTAATAGCGGGGCTT	0.463																																						ENST00000327268.4																			1	Substitution - coding silent(1)	p.L283L(1)	prostate(1)	large_intestine(3)|lung(8)|prostate(1)|skin(1)|urinary_tract(2)	15						c.(847-849)ctA>ctG		solute carrier family 16, member 6	Pyruvic acid(DB00119)						55	57	56					17																	66267452		2203	4300	6503	SO:0001819	synonymous_variant	9120					integral to plasma membrane|membrane fraction	monocarboxylic acid transmembrane transporter activity|symporter activity	g.chr17:66267452T>C	U79745	CCDS11675.1	17q24.2	2013-07-18	2013-07-18		ENSG00000108932	ENSG00000108932		"Solute carriers"	10927	protein-coding gene	gene with protein product		603880	"solute carrier family 16 (monocarboxylic acid transporters), member 6", "solute carrier family 16, member 6 (monocarboxylic acid transporter 7)"			9425115	Standard	NM_004694		Approved	MCT6, MCT7	uc002jgz.2	O15403	OTTHUMG00000179812	ENST00000327268.4:c.849A>G	17.37:g.66267452T>C						ARSG_ENST00000448504.2_Intron|SLC16A6_ENST00000580666.1_Silent_p.L283L	p.L283L	NM_001174166.1	NP_001167637.1	O15403	MOT7_HUMAN	BRCA - Breast invasive adenocarcinoma(8;3.17e-08)|LUSC - Lung squamous cell carcinoma(166;0.24)		6	1013	-	all_cancers(12;1.24e-09)		283					Q6P1X3	Silent	SNP	ENST00000327268.4	37	c.849A>G	CCDS11675.1																																																																																				0.463	SLC16A6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448323.1	NM_004694		3	123	0	0	0	0.004672	0	3	123					C	66267452	T	C	66267452	2	2	46	1	0	0	0	0	0	0	0	1	14412	1393	49	4		4	SLC16A6	17	66267452	Silent	SNP	T	TCGA-EJ-5496-01A-01D-1576-08	23974325	66267452	14927758	52	2530											
WDR7	23335	broad.mit.edu	37	chr18	54603078	54603078	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ggcccgctctgcgaggcatgCcctctcgctcattgccaccg	4	8	11	18	4	3	0	1	0	2	0	4	1	3	0	4	2	3	3	4	2	0	1			TCGA-EJ-5496-01A-01D-1576-08	TCGA-EJ-5496-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea9dfa9-b503-4f82-9fed-5b88c43074f8	5d8deeb6-3e5f-422d-b7ff-d35db9198e0d	g.chr18:54603078C>T	ENST00000254442.3	+	23	3984	c.3773C>T	c.(3772-3774)gCc>gTc	p.A1258V	WDR7_ENST00000357574.3_Missense_Mutation_p.A1225V|WDR7_ENST00000589935.1_Intron	NM_015285.2	NP_056100.2	Q9Y4E6	WDR7_HUMAN	WD repeat domain 7	1258					hematopoietic progenitor cell differentiation (GO:0002244)			p.A1258V(1)		NS(1)|breast(5)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(37)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	78				Lung(128;0.0238)|Colorectal(16;0.0296)		GCGAGGCATGCCCTCTCGCTC	0.537																																						ENST00000254442.3																			1	Substitution - Missense(1)	p.A1258V(1)	prostate(1)	NS(1)|breast(5)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(37)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	78						c.(3772-3774)gCc>gTc		WD repeat domain 7							87	88	87					18																	54603078		2203	4300	6503	SO:0001583	missense	23335							g.chr18:54603078C>T	AB011113	CCDS11962.1, CCDS11963.1	18q21.31	2013-01-09			ENSG00000091157	ENSG00000091157		"WD repeat domain containing"	13490	protein-coding gene	gene with protein product		613473				10828621	Standard	XM_005266674		Approved	KIAA0541, TRAG	uc002lgk.1	Q9Y4E6	OTTHUMG00000132721	ENST00000254442.3:c.3773C>T	18.37:g.54603078C>T	ENSP00000254442:p.Ala1258Val					WDR7_ENST00000589935.1_Intron|WDR7_ENST00000357574.3_Missense_Mutation_p.A1225V	p.A1258V	NM_015285.2	NP_056100.2	Q9Y4E6	WDR7_HUMAN		Lung(128;0.0238)|Colorectal(16;0.0296)	23	3984	+			1258					A7E2C8|Q86UX5|Q86VP2|Q96PS7	Missense_Mutation	SNP	ENST00000254442.3	37	c.3773C>T	CCDS11962.1	.	.	.	.	.	.	.	.	.	.	C	34	5.375774	0.95923	.	.	ENSG00000091157	ENST00000254442;ENST00000357574;ENST00000444065;ENST00000398311	T;T	0.44881	0.91;1.25	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	T	0.63640	0.2528	L	0.58510	1.815	0.80722	D	1	D;D	0.67145	0.996;0.993	D;D	0.77557	0.99;0.978	T	0.64300	-0.6440	10	0.87932	D	0	.	19.4635	0.94929	0.0:1.0:0.0:0.0	.	1225;1258	Q9Y4E6-2;Q9Y4E6	.;WDR7_HUMAN	V	1258;1225;583;1225	ENSP00000254442:A1258V;ENSP00000350187:A1225V	ENSP00000254442:A1258V	A	+	2	0	WDR7	52754076	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.514000	0.81750	2.715000	0.92844	0.585000	0.79938	GCC		0.537	WDR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256062.1			4	175	0	0	0	0.014758	0	4	175					T	54603078	C	T	54603078	3	4	46	1	0	0	0	0	1	0	0	0	17317	739	26	3	3859	3	WDR7	18	54603078	Missense_Mutation	SNP	C	TCGA-EJ-5496-01A-01D-1576-08		54603078	23474170	53	2531											
MUC16	94025	broad.mit.edu	37	chr19	9047100	9047100	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgtggtgtctgacttactatGggaaaacttgggagttgtcc	8	14	13	6	0	1	1	0	1	1	0	2	3	2	3	1	3	2	1	1	3	4	4			TCGA-EJ-5496-01A-01D-1576-08	TCGA-EJ-5496-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea9dfa9-b503-4f82-9fed-5b88c43074f8	5d8deeb6-3e5f-422d-b7ff-d35db9198e0d	g.chr19:9047100G>A	ENST00000397910.4	-	5	34734	c.34531C>T	c.(34531-34533)Cat>Tat	p.H11511Y		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	11513	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)		p.H11511Y(1)|p.H7144Y(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GACTTACTATGGGAAAACTTG	0.498																																						ENST00000397910.4																			2	Substitution - Missense(2)	p.H11511Y(1)|p.H7144Y(1)	prostate(2)	NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(34531-34533)Cat>Tat		mucin 16, cell surface associated							146	143	144					19																	9047100		2058	4206	6264	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9047100G>A	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.34531C>T	19.37:g.9047100G>A	ENSP00000381008:p.His11511Tyr						p.H11511Y	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			5	34734	-			11513			Thr-rich.		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.34531C>T	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	g	4.823	0.152973	0.09185	.	.	ENSG00000181143	ENST00000397910	T	0.02015	4.5	2.56	-0.892	0.10570	.	.	.	.	.	T	0.02455	0.0075	L	0.46157	1.445	.	.	.	B	0.16603	0.018	B	0.15484	0.013	T	0.30297	-0.9983	8	0.87932	D	0	.	5.1579	0.15044	0.4547:0.0:0.5453:0.0	.	11511	B5ME49	.	Y	11511	ENSP00000381008:H11511Y	ENSP00000381008:H11511Y	H	-	1	0	MUC16	8908100	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-0.699000	0.05087	-0.103000	0.12175	0.586000	0.80456	CAT		0.498	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		53	140	0	0	0	0.01441	0	53	140					A	9047100	G	A	9047100	3	1	46	1	0	0	0	0	1	0	0	0	9973	1348	47	3	9312	3	MUC16	19	9047100	Missense_Mutation	SNP	G	TCGA-EJ-5496-01A-01D-1576-08		9047100	50081883	54	2532											
CEACAM3	1084	broad.mit.edu	37	chr19	42312921	42312921	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggggtcctggtcggagtggcGctggtggccgcgctggtgtg	1	9	22	9	4	0	0	0	0	0	0	2	1	1	1	2	8	0	2	2	8	0	0	rs61747599	byFrequency	TCGA-EJ-5496-01A-01D-1576-08	TCGA-EJ-5496-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea9dfa9-b503-4f82-9fed-5b88c43074f8	5d8deeb6-3e5f-422d-b7ff-d35db9198e0d	g.chr19:42312921G>A	ENST00000357396.3	+	3	736	c.495G>A	c.(493-495)gcG>gcA	p.A165A	CEACAM3_ENST00000344550.4_Silent_p.A165A|CEACAM3_ENST00000221999.4_Silent_p.A165A|CEACAM3_ENST00000595255.1_3'UTR	NM_001815.2	NP_001806.2	P40198	CEAM3_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 3	165						integral component of membrane (GO:0016021)		p.A165A(1)		endometrium(2)|kidney(4)|large_intestine(1)|lung(4)|prostate(3)|skin(4)|stomach(1)	19						TCGGAGTGGCGCTGGTGGCCG	0.607													g|||	5	0.000998403	0.0038	0	5008	,	,		16945	0		0	False		,,,				2504	0					ENST00000357396.3																			1	Substitution - coding silent(1)	p.A165A(1)	prostate(1)	endometrium(2)|kidney(4)|large_intestine(1)|lung(4)|prostate(3)|skin(4)|stomach(1)	19						c.(493-495)gcG>gcA		carcinoembryonic antigen-related cell adhesion molecule 3		G		3,4403	6.2+/-15.9	0,3,2200	140	137	138		495	-5.7	0	19	dbSNP_129	138	0,8600		0,0,4300	no	coding-synonymous	CEACAM3	NM_001815.2		0,3,6500	AA,AG,GG		0.0,0.0681,0.0231		165/253	42312921	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	1084					integral to membrane		g.chr19:42312921G>A	E03349	CCDS12586.2, CCDS62685.1	19q13.2	2013-01-11			ENSG00000170956	ENSG00000170956		"CD molecules", "Immunoglobulin superfamily / V-set domain containing"	1815	protein-coding gene	gene with protein product		609142		CGM1			Standard	NM_001815		Approved	CD66d	uc002orn.2	P40198	OTTHUMG00000150142	ENST00000357396.3:c.495G>A	19.37:g.42312921G>A						CEACAM3_ENST00000344550.4_Silent_p.A165A|CEACAM3_ENST00000595255.1_3'UTR|CEACAM3_ENST00000221999.4_Silent_p.A165A	p.A165A	NM_001815.2	NP_001806.2	P40198	CEAM3_HUMAN			3	736	+			165					G5E978|Q3KPH9	Silent	SNP	ENST00000357396.3	37	c.495G>A	CCDS12586.2																																																																																				0.607	CEACAM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316509.2	NM_001815		72	282	0	0	0	0.01441	0	72	282					A	42312921	G	A	42312921	2	1	46	1	0	0	0	0	0	0	0	1	3193	1074	38	1		1	CEACAM3	19	42312921	Silent	SNP	G	TCGA-EJ-5496-01A-01D-1576-08	33265821	42312921	16816062	55	2533											
LRRC4B	94030	broad.mit.edu	37	chr19	51022077	51022077	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctcgaggcggtgcaggggcGtgaagaggtcgtggggcagc	6	5	22	8	4	0	2	0	1	0	1	2	3	0	2	0	7	2	3	0	7	1	0			TCGA-EJ-5496-01A-01D-1576-08	TCGA-EJ-5496-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea9dfa9-b503-4f82-9fed-5b88c43074f8	5d8deeb6-3e5f-422d-b7ff-d35db9198e0d	g.chr19:51022077G>A	ENST00000599957.1	-	3	1090	c.893C>T	c.(892-894)aCg>aTg	p.T298M	LRRC4B_ENST00000389201.3_Missense_Mutation_p.T298M			Q9NT99	LRC4B_HUMAN	leucine rich repeat containing 4B	298					positive regulation of synapse assembly (GO:0051965)	cell junction (GO:0030054)|cerebellar mossy fiber (GO:0044300)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synapse (GO:0045202)		p.T298M(1)		breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(1)|lung(11)|prostate(4)|skin(1)|urinary_tract(1)	30		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00284)|GBM - Glioblastoma multiforme(134;0.0188)		GTGCAGGGGCGTGAAGAGGTC	0.637																																						ENST00000599957.1																			1	Substitution - Missense(1)	p.T298M(1)	prostate(1)	breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(1)|lung(11)|prostate(4)|skin(1)|urinary_tract(1)	30						c.(892-894)aCg>aTg		leucine rich repeat containing 4B							86	103	97					19																	51022077		2169	4264	6433	SO:0001583	missense	94030					cell junction|integral to membrane|presynaptic membrane		g.chr19:51022077G>A	BC032460	CCDS42595.1	19q13.33	2014-01-30	2004-06-14	2004-06-16	ENSG00000131409	ENSG00000131409		"Immunoglobulin superfamily / I-set domain containing", "Endogenous ligands"	25042	protein-coding gene	gene with protein product	"netrin-G3 ligand"		"leucine-rich repeats and immunoglobulin-like domains 4"	LRIG4		11441184	Standard	NM_001080457		Approved	DKFZp761A179, HSM	uc002pss.3	Q9NT99		ENST00000599957.1:c.893C>T	19.37:g.51022077G>A	ENSP00000471502:p.Thr298Met					LRRC4B_ENST00000389201.3_Missense_Mutation_p.T298M	p.T298M			Q9NT99	LRC4B_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00284)|GBM - Glioblastoma multiforme(134;0.0188)	3	1090	-		all_neural(266;0.131)	298					Q3ZCQ4|Q58F20	Missense_Mutation	SNP	ENST00000599957.1	37	c.893C>T	CCDS42595.1	.	.	.	.	.	.	.	.	.	.	G	16.02	3.004646	0.54254	.	.	ENSG00000131409	ENST00000389201;ENST00000535879	T	0.57907	0.37	3.7	3.7	0.42460	.	0.000000	0.85682	U	0.000000	T	0.60932	0.2307	L	0.37507	1.11	0.48632	D	0.999681	D	0.89917	1.0	D	0.74023	0.982	T	0.63431	-0.6639	10	0.54805	T	0.06	.	13.3505	0.60599	0.0:0.0:1.0:0.0	.	298	Q9NT99	LRC4B_HUMAN	M	298	ENSP00000373853:T298M	ENSP00000373853:T298M	T	-	2	0	LRRC4B	55713889	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.666000	0.83877	2.084000	0.62774	0.561000	0.74099	ACG		0.637	LRRC4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464907.1	NM_001080457		27	113	0	0	0	0.013726	0	27	113					A	51022077	G	A	51022077	3	1	46	1	0	0	0	0	1	0	0	0	9007	1145	40	1	1252	1	LRRC4B	19	51022077	Missense_Mutation	SNP	G	TCGA-EJ-5496-01A-01D-1576-08	8709156	51022077	8106906	56	2534											
ASXL1	171023	broad.mit.edu	37	chr20	31023728	31023728	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgggtgtctcgagtatgtgcGgtccgccaaaagatcccaga	9	9	13	10	3	1	2	0	0	1	2	4	3	3	2	3	2	1	1	3	2	3	1			TCGA-EJ-5496-01A-01D-1576-08	TCGA-EJ-5496-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea9dfa9-b503-4f82-9fed-5b88c43074f8	5d8deeb6-3e5f-422d-b7ff-d35db9198e0d	g.chr20:31023728G>A	ENST00000375687.4	+	13	3637	c.3213G>A	c.(3211-3213)gcG>gcA	p.A1071A	ASXL1_ENST00000306058.5_Silent_p.A1066A	NM_015338.5	NP_056153	Q8IXJ9	ASXL1_HUMAN	additional sex combs like transcriptional regulator 1	1071					bone development (GO:0060348)|monoubiquitinated histone H2A deubiquitination (GO:0035522)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035359)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of retinoic acid receptor signaling pathway (GO:0048386)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to retinoic acid (GO:0032526)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nuclear chromatin (GO:0000790)|PR-DUB complex (GO:0035517)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|peroxisome proliferator activated receptor binding (GO:0042975)|retinoic acid receptor binding (GO:0042974)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)	p.A1071A(1)		NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(655)|kidney(5)|large_intestine(18)|liver(1)|lung(27)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	722						GAGTATGTGCGGTCCGCCAAA	0.567			"F, N, Mis"		"MDS, CMML"																																	ENST00000375687.4				Rec	yes		20	20q11.1	171023	"F, N, Mis"	additional sex combs like 1			L			"MDS, CMML"		1	Substitution - coding silent(1)	p.A1071A(1)	prostate(1)	NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(655)|kidney(5)|large_intestine(18)|liver(1)|lung(27)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	722						c.(3211-3213)gcG>gcA		additional sex combs like 1 (Drosophila)							138	114	122					20																	31023728		2203	4300	6503	SO:0001819	synonymous_variant	171023				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	PR-DUB complex	metal ion binding|protein binding	g.chr20:31023728G>A	AJ438952	CCDS13201.1	20q11	2014-09-17	2014-06-17		ENSG00000171456	ENSG00000171456			18318	protein-coding gene	gene with protein product		612990	"additional sex combs like 1 (Drosophila)"			12657473	Standard	NM_015338		Approved	KIAA0978	uc002wxs.3	Q8IXJ9	OTTHUMG00000032218	ENST00000375687.4:c.3213G>A	20.37:g.31023728G>A						ASXL1_ENST00000306058.5_Silent_p.A1066A	p.A1071A	NM_015338.5	NP_056153.2	Q8IXJ9	ASXL1_HUMAN			13	3637	+			1071					B2RP59|Q5JWS9|Q8IYY7|Q9H466|Q9NQF8|Q9UFJ0|Q9UFP8|Q9Y2I4	Silent	SNP	ENST00000375687.4	37	c.3213G>A	CCDS13201.1																																																																																				0.567	ASXL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078624.2	NM_015338		52	137	0	0	0	0.01441	0	52	137					A	31023728	G	A	31023728	2	1	46	1	0	0	0	0	0	0	0	1	1066	1103	39	2		2	ASXL1	20	31023728	Silent	SNP	G	TCGA-EJ-5496-01A-01D-1576-08		31023728	32001792	57	2535											
SALL4	57167	broad.mit.edu	37	chr20	50401031	50401031	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	attggtcttcacggccagacCgccattgagcatgctggtgt	7	11	12	11	2	2	2	1	1	1	1	2	2	2	2	3	3	2	2	3	3	0	3			TCGA-EJ-5496-01A-01D-1576-08	TCGA-EJ-5496-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea9dfa9-b503-4f82-9fed-5b88c43074f8	5d8deeb6-3e5f-422d-b7ff-d35db9198e0d	g.chr20:50401031C>T	ENST00000217086.4	-	4	3046	c.2935G>A	c.(2935-2937)Ggt>Agt	p.G979S	SALL4_ENST00000371539.3_Missense_Mutation_p.G202S|SALL4_ENST00000395997.3_Missense_Mutation_p.G542S	NM_020436.3	NP_065169.1	Q9UJQ4	SALL4_HUMAN	spalt-like transcription factor 4	979					embryonic limb morphogenesis (GO:0030326)|inner cell mass cell proliferation (GO:0001833)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)|ventricular septum development (GO:0003281)	cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.G979S(1)		endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(27)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						ACGGCCAGACCGCCATTGAGC	0.547																																						ENST00000217086.4																			1	Substitution - Missense(1)	p.G979S(1)	prostate(1)	endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(27)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						c.(2935-2937)Ggt>Agt		spalt-like transcription factor 4							100	89	93					20																	50401031		2203	4300	6503	SO:0001583	missense	57167				transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr20:50401031C>T	AK001666	CCDS13438.1	20q13.2	2014-09-17	2013-10-17		ENSG00000101115	ENSG00000101115		"Zinc fingers, C2H2-type"	15924	protein-coding gene	gene with protein product		607343	"sal (Drosophila)-like 4", "sal-like 4 (Drosophila)"				Standard	NM_020436		Approved	dJ1112F19.1, ZNF797	uc002xwh.4	Q9UJQ4	OTTHUMG00000032752	ENST00000217086.4:c.2935G>A	20.37:g.50401031C>T	ENSP00000217086:p.Gly979Ser					SALL4_ENST00000395997.3_Missense_Mutation_p.G542S|SALL4_ENST00000371539.3_Missense_Mutation_p.G202S	p.G979S	NM_020436.3	NP_065169.1	Q9UJQ4	SALL4_HUMAN			4	3046	-			979					A2A2D8|Q540H3|Q6Y8G6	Missense_Mutation	SNP	ENST00000217086.4	37	c.2935G>A	CCDS13438.1	.	.	.	.	.	.	.	.	.	.	C	25.9	4.686249	0.88639	.	.	ENSG00000101115	ENST00000217086;ENST00000395997;ENST00000371539	T;T;T	0.66460	-0.21;-0.21;-0.21	4.8	4.8	0.61643	.	0.000000	0.43919	D	0.000503	T	0.78201	0.4246	L	0.59436	1.845	0.80722	D	1	D;D;D	0.89917	0.998;0.993;1.0	P;B;D	0.91635	0.883;0.377;0.999	T	0.73534	-0.3952	10	0.19147	T	0.46	-23.105	18.203	0.89844	0.0:1.0:0.0:0.0	.	542;202;979	A2A2D8;Q6Y8G5;Q9UJQ4	.;.;SALL4_HUMAN	S	979;542;202	ENSP00000217086:G979S;ENSP00000379319:G542S;ENSP00000360594:G202S	ENSP00000217086:G979S	G	-	1	0	SALL4	49834438	1.000000	0.71417	0.478000	0.27316	0.813000	0.45954	6.050000	0.71063	2.381000	0.81170	0.561000	0.74099	GGT		0.547	SALL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079738.3			25	160	0	0	0	0.016522	0	25	160					T	50401031	C	T	50401031	3	4	46	1	0	0	0	0	1	0	0	0	13813	652	23	2	230	2	SALL4	20	50401031	Missense_Mutation	SNP	C	TCGA-EJ-5496-01A-01D-1576-08	19377303	50401031	12624489	58	2536											
SRRM1	10250	broad.mit.edu	37	chr1	24998071	24998071	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggaagagccagtggcagcGccagagccgaagaaggtatt	13	4	15	9	2	0	3	0	0	0	3	0	5	0	4	3	3	3	2	3	3	4	2	rs369107445		TCGA-EJ-5497-01A-02D-1576-08	TCGA-EJ-5497-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	924c20dd-38c1-48a7-83c6-fd1bdffda680	f6c01a65-6505-4d90-a07f-9c7285b4cf58	g.chr1:24998071G>A	ENST00000323848.9	+	16	2910	c.2595G>A	c.(2593-2595)gcG>gcA	p.A865A	SRRM1_ENST00000447431.2_Silent_p.A877A|SRRM1_ENST00000479034.1_3'UTR|SRRM1_ENST00000374389.4_Silent_p.A874A	NM_005839.3	NP_005830.2	Q8IYB3	SRRM1_HUMAN	serine/arginine repetitive matrix 1	865	Ala-rich.				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	catalytic step 2 spliceosome (GO:0071013)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)	p.A865A(1)		breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(2)|prostate(1)|urinary_tract(2)	36		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00125)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0422)|OV - Ovarian serous cystadenocarcinoma(117;1.01e-24)|Colorectal(126;5.95e-08)|COAD - Colon adenocarcinoma(152;3.24e-06)|GBM - Glioblastoma multiforme(114;0.000148)|BRCA - Breast invasive adenocarcinoma(304;0.00177)|KIRC - Kidney renal clear cell carcinoma(1967;0.00348)|STAD - Stomach adenocarcinoma(196;0.00483)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.138)		CAGTGGCAGCGCCAGAGCCGA	0.483													G|||	1	0.000199681	0	0	5008	,	,		16547	0.001		0	False		,,,				2504	0				Ovarian(68;897 1494 3282 17478)	ENST00000323848.9																			1	Substitution - coding silent(1)	p.A865A(1)	prostate(1)	breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(2)|prostate(1)|urinary_tract(2)	36						c.(2593-2595)gcG>gcA		serine/arginine repetitive matrix 1		G		2,4404	2.1+/-5.4	0,2,2201	50	51	51		2595	1.4	0.4	1		51	0,8600		0,0,4300	no	coding-synonymous	SRRM1	NM_005839.3		0,2,6501	AA,AG,GG		0.0,0.0454,0.0154		865/905	24998071	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	10250				mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytosol|nuclear matrix|nuclear speck	DNA binding|protein binding|RNA binding	g.chr1:24998071G>A	AF048977	CCDS255.1	1p36	2010-04-22			ENSG00000133226	ENSG00000133226			16638	protein-coding gene	gene with protein product	"Ser/Arg-related nuclear matrix protein", "plenty of prolines 101-like"	605975				9531537	Standard	NM_005839		Approved	SRM160, POP101, MGC39488	uc001bjm.3	Q8IYB3	OTTHUMG00000003320	ENST00000323848.9:c.2595G>A	1.37:g.24998071G>A						SRRM1_ENST00000447431.2_Silent_p.A877A|SRRM1_ENST00000479034.1_3'UTR|SRRM1_ENST00000374389.4_Silent_p.A874A	p.A865A	NM_005839.3	NP_005830.2	Q8IYB3	SRRM1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0422)|OV - Ovarian serous cystadenocarcinoma(117;1.01e-24)|Colorectal(126;5.95e-08)|COAD - Colon adenocarcinoma(152;3.24e-06)|GBM - Glioblastoma multiforme(114;0.000148)|BRCA - Breast invasive adenocarcinoma(304;0.00177)|KIRC - Kidney renal clear cell carcinoma(1967;0.00348)|STAD - Stomach adenocarcinoma(196;0.00483)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.138)	16	2910	+		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00125)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)	865			Ala-rich.		O60585|Q5VVN4	Silent	SNP	ENST00000323848.9	37	c.2595G>A	CCDS255.1																																																																																				0.483	SRRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009292.2	NM_005839		7	60	0	0	0	0.361761	0	7	60					A	24998071	G	A	24998071	2	1	47	1	0	0	0	0	0	0	0	1	15167	1074	38	1		1	SRRM1	1	24998071	Silent	SNP	G	TCGA-EJ-5497-01A-02D-1576-08		24998071	224252550	1	2537											
LCE1F	353137	broad.mit.edu	37	chr1	152748962	152748962	+	Missense_Mutation	SNP	C	C	G																															agtgtccccctaagtgccctCctgtctcttcctgctgcagc																								rs116630978		TCGA-EJ-5497-01A-02D-1576-08	TCGA-EJ-5497-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	924c20dd-38c1-48a7-83c6-fd1bdffda680	f6c01a65-6505-4d90-a07f-9c7285b4cf58	g.chr1:152748962C>G	ENST00000334371.2	+	1	115	c.115C>G	c.(115-117)Cct>Gct	p.P39A		NM_178354.2	NP_848131.1	Q5T754	LCE1F_HUMAN	late cornified envelope 1F	39	Pro-rich.				keratinization (GO:0031424)			p.P39A(1)		kidney(1)|large_intestine(2)|lung(7)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			taagtgccctccTGTCTCTTC	0.677																																						ENST00000334371.2																			1	Substitution - Missense(1)	p.P39A(1)	prostate(1)	kidney(1)|large_intestine(2)|lung(7)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						c.(115-117)Cct>Gct		late cornified envelope 1F							58	60	59					1																	152748962		2203	4300	6503	SO:0001583	missense	353137				keratinization			g.chr1:152748962C>G		CCDS1023.1	1q21.3	2008-02-05			ENSG00000240386	ENSG00000240386		"Late cornified envelopes"	29467	protein-coding gene	gene with protein product		612608				11698679	Standard	NM_178354		Approved	LEP6	uc010pdv.2	Q5T754	OTTHUMG00000012403	ENST00000334371.2:c.115C>G	1.37:g.152748962C>G	ENSP00000334187:p.Pro39Ala						p.P39A	NM_178354.2	NP_848131.1	Q5T754	LCE1F_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		1	115	+	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		39			Pro-rich.			Missense_Mutation	SNP	ENST00000334371.2	37	c.115C>G	CCDS1023.1	.	.	.	.	.	.	.	.	.	.	C	9.324	1.058869	0.19987	.	.	ENSG00000240386	ENST00000334371	T	0.03860	3.78	4.56	4.56	0.56223	.	.	.	.	.	T	0.03434	0.0099	L	0.58810	1.83	0.24184	N	0.995576	B	0.28760	0.221	B	0.31614	0.133	T	0.14671	-1.0464	9	0.87932	D	0	.	13.0238	0.58804	0.0:1.0:0.0:0.0	.	39	Q5T754	LCE1F_HUMAN	A	39	ENSP00000334187:P39A	ENSP00000334187:P39A	P	+	1	0	LCE1F	151015586	0.776000	0.28616	0.936000	0.37596	0.529000	0.34654	2.029000	0.41098	2.516000	0.84829	0.557000	0.71058	CCT		0.677	LCE1F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034523.2	NM_178354		14	84	0	0	0	0.479597	0	14	84					G	152748962	C	G	152748962	3	3	47	1	0	0	0	0	1	0	0	0	8664	855	30	5	117	5	LCE1F	1	152748962	Missense_Mutation	SNP	C	TCGA-EJ-5497-01A-02D-1576-08	127750891	152748962	96501659	2	2538	17	2									
LCE1F	353137	broad.mit.edu	37	chr1	152748963	152748963	+	Missense_Mutation	SNP	C	C	T																															gtgtccccctaagtgccctcCtgtctcttcctgctgcagcg																										TCGA-EJ-5497-01A-02D-1576-08	TCGA-EJ-5497-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	924c20dd-38c1-48a7-83c6-fd1bdffda680	f6c01a65-6505-4d90-a07f-9c7285b4cf58	g.chr1:152748963C>T	ENST00000334371.2	+	1	116	c.116C>T	c.(115-117)cCt>cTt	p.P39L		NM_178354.2	NP_848131.1	Q5T754	LCE1F_HUMAN	late cornified envelope 1F	39	Pro-rich.				keratinization (GO:0031424)			p.P39L(1)		kidney(1)|large_intestine(2)|lung(7)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			aagtgccctccTGTCTCTTCC	0.672																																						ENST00000334371.2																			1	Substitution - Missense(1)	p.P39L(1)	prostate(1)	kidney(1)|large_intestine(2)|lung(7)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						c.(115-117)cCt>cTt		late cornified envelope 1F							57	59	58					1																	152748963		2203	4300	6503	SO:0001583	missense	353137				keratinization			g.chr1:152748963C>T		CCDS1023.1	1q21.3	2008-02-05			ENSG00000240386	ENSG00000240386		"Late cornified envelopes"	29467	protein-coding gene	gene with protein product		612608				11698679	Standard	NM_178354		Approved	LEP6	uc010pdv.2	Q5T754	OTTHUMG00000012403	ENST00000334371.2:c.116C>T	1.37:g.152748963C>T	ENSP00000334187:p.Pro39Leu						p.P39L	NM_178354.2	NP_848131.1	Q5T754	LCE1F_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		1	116	+	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		39			Pro-rich.			Missense_Mutation	SNP	ENST00000334371.2	37	c.116C>T	CCDS1023.1	.	.	.	.	.	.	.	.	.	.	C	7.363	0.625284	0.14257	.	.	ENSG00000240386	ENST00000334371	T	0.04083	3.71	4.56	2.59	0.31030	.	.	.	.	.	T	0.03739	0.0106	M	0.81112	2.525	0.33952	D	0.644595	P	0.39250	0.665	B	0.37943	0.261	T	0.13656	-1.0501	9	0.87932	D	0	.	9.5885	0.39532	0.382:0.618:0.0:0.0	.	39	Q5T754	LCE1F_HUMAN	L	39	ENSP00000334187:P39L	ENSP00000334187:P39L	P	+	2	0	LCE1F	151015587	0.816000	0.29132	0.873000	0.34254	0.495000	0.33615	2.133000	0.42093	0.597000	0.29811	-0.321000	0.08615	CCT		0.672	LCE1F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034523.2	NM_178354		13	84	0	0	0	0.457914	0	13	84					T	152748963	C	T	152748963	3	4	47	1	0	0	0	0	1	0	0	0	8664	681	24	3	118	3	LCE1F	1	152748963	Missense_Mutation	SNP	C	TCGA-EJ-5497-01A-02D-1576-08	1	152748963	96501658	3	2539	17	2									
ASPM	259266	broad.mit.edu	37	chr1	197073334	197073334	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aacagttgactgcaattttaTtgtagcattttttaggctca	11	17	7	6	0	1	1	1	1	0	0	1	1	1	1	0	1	3	5	0	1	5	8			TCGA-EJ-5497-01A-02D-1576-08	TCGA-EJ-5497-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	924c20dd-38c1-48a7-83c6-fd1bdffda680	f6c01a65-6505-4d90-a07f-9c7285b4cf58	g.chr1:197073334T>C	ENST00000367409.4	-	18	5303	c.5047A>G	c.(5047-5049)Ata>Gta	p.I1683V	ASPM_ENST00000294732.7_Intron|ASPM_ENST00000367408.1_Intron	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	1683	IQ 5. {ECO:0000255|PROSITE- ProRule:PRU00116}.				developmental growth (GO:0048589)|forebrain neuroblast division (GO:0021873)|maintenance of centrosome location (GO:0051661)|mitotic nuclear division (GO:0007067)|negative regulation of asymmetric cell division (GO:0045769)|negative regulation of neuron differentiation (GO:0045665)|neuron migration (GO:0001764)|oogenesis (GO:0048477)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of neuroblast proliferation (GO:0002052)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle pole (GO:0000922)		p.I1683V(1)|p.I1683fs*7(1)		breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						TGCAATTTTATTGTAGCATTT	0.303																																						ENST00000367409.4																			2	Substitution - Missense(1)|Deletion - Frameshift(1)	p.I1683V(1)|p.I1683fs*7(1)	prostate(1)|liver(1)	breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						c.(5047-5049)Ata>Gta		asp (abnormal spindle) homolog, microcephaly associated (Drosophila)							53	54	54					1																	197073334		2201	4296	6497	SO:0001583	missense	259266				mitosis	cytoplasm|nucleus	calmodulin binding	g.chr1:197073334T>C	AY367065	CCDS1389.1, CCDS55672.1	1q31	2008-02-05	2006-09-12		ENSG00000066279	ENSG00000066279			19048	protein-coding gene	gene with protein product		605481	"microcephaly, primary autosomal recessive 5", "asp (abnormal spindle)-like, microcephaly associated (Drosophila)"	MCPH5		11078481	Standard	NM_018136		Approved	Calmbp1, ASP, FLJ10517, FLJ10549	uc001gtu.3	Q8IZT6	OTTHUMG00000036277	ENST00000367409.4:c.5047A>G	1.37:g.197073334T>C	ENSP00000356379:p.Ile1683Val					ASPM_ENST00000294732.7_Intron|ASPM_ENST00000367408.1_Intron	p.I1683V	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN			18	5303	-			1683			IQ 5.		Q4G1H1|Q5VYL3|Q86UX4|Q8IUL2|Q8IZJ7|Q8IZJ8|Q8IZJ9|Q8N4D1|Q9NVS1|Q9NVT6	Missense_Mutation	SNP	ENST00000367409.4	37	c.5047A>G	CCDS1389.1	.	.	.	.	.	.	.	.	.	.	T	5.094	0.202998	0.09704	.	.	ENSG00000066279	ENST00000367409	T	0.71817	-0.6	5.52	-1.36	0.09085	.	0.438834	0.24967	N	0.034177	T	0.42063	0.1186	N	0.12502	0.225	0.46336	D	0.998992	B	0.11235	0.004	B	0.16722	0.016	T	0.12344	-1.0551	10	0.09338	T	0.73	.	6.207	0.20608	0.1161:0.3448:0.0:0.5391	.	1683	Q8IZT6	ASPM_HUMAN	V	1683	ENSP00000356379:I1683V	ENSP00000356379:I1683V	I	-	1	0	ASPM	195339957	0.039000	0.19947	0.220000	0.23810	0.913000	0.54294	0.164000	0.16542	-0.399000	0.07668	-0.361000	0.07541	ATA		0.303	ASPM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000088256.1	NM_018136		4	125	0	0	0	0.150653	0	4	125					C	197073334	T	C	197073334	3	2	47	1	0	0	0	0	1	0	0	0	1056	1493	52	4	5430	4	ASPM	1	197073334	Missense_Mutation	SNP	T	TCGA-EJ-5497-01A-02D-1576-08	44324371	197073334	52177287	4	2540											
CCDC142	84865	broad.mit.edu	37	chr2	74708964	74708964	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgacccagtgcctgactcAgctgttgcgctgttgccctg	4	11	11	15	1	1	2	1	2	0	0	1	2	1	2	4	0	4	4	4	0	0	2			TCGA-EJ-5497-01A-02D-1576-08	TCGA-EJ-5497-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	924c20dd-38c1-48a7-83c6-fd1bdffda680	f6c01a65-6505-4d90-a07f-9c7285b4cf58	g.chr2:74708964A>T	ENST00000393965.3	-	1	1397	c.1001T>A	c.(1000-1002)cTg>cAg	p.L334Q	TTC31_ENST00000233623.5_5'Flank|TTC31_ENST00000442235.2_5'Flank|CCDC142_ENST00000290418.4_Missense_Mutation_p.L334Q|TTC31_ENST00000410003.1_5'Flank|CCDC142_ENST00000471713.1_5'UTR	NM_032779.3	NP_116168.3	Q17RM4	CC142_HUMAN	coiled-coil domain containing 142	334								p.L334Q(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	16						TGCCTGACTCAGCTGTTGCGC	0.612																																						ENST00000393965.3																			1	Substitution - Missense(1)	p.L334Q(1)	prostate(1)	central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	16						c.(1000-1002)cTg>cAg		coiled-coil domain containing 142							84	74	77					2																	74708964		2203	4300	6503	SO:0001583	missense	84865							g.chr2:74708964A>T	AK075543	CCDS1945.1	2p13.1	2008-02-05			ENSG00000135637	ENSG00000135637			25889	protein-coding gene	gene with protein product							Standard	NM_032779		Approved	FLJ14397	uc002slq.3	Q17RM4	OTTHUMG00000129962	ENST00000393965.3:c.1001T>A	2.37:g.74708964A>T	ENSP00000377537:p.Leu334Gln					CCDC142_ENST00000290418.4_Missense_Mutation_p.L334Q|CCDC142_ENST00000471713.1_5'UTR	p.L334Q	NM_032779.3	NP_116168.3	Q17RM4	CC142_HUMAN			1	1397	-			334					B7ZKV5|Q8NBJ3|Q8NBV2|Q96KA7	Missense_Mutation	SNP	ENST00000393965.3	37	c.1001T>A		.	.	.	.	.	.	.	.	.	.	A	18.04	3.534691	0.64972	.	.	ENSG00000135637	ENST00000393965;ENST00000290418	T;T	0.61742	0.08;0.08	5.01	3.86	0.44501	.	0.000000	0.39146	N	0.001444	T	0.69540	0.3122	M	0.73598	2.24	0.38945	D	0.958225	D;D;D	0.69078	0.997;0.997;0.997	D;D;D	0.63877	0.919;0.919;0.919	T	0.72424	-0.4298	10	0.87932	D	0	-10.1471	7.3479	0.26674	0.9023:0.0:0.0977:0.0	.	334;334;334	Q17RM4;Q17RM4-2;Q17RM4-3	CC142_HUMAN;.;.	Q	334	ENSP00000377537:L334Q;ENSP00000290418:L334Q	ENSP00000290418:L334Q	L	-	2	0	CCDC142	74562472	1.000000	0.71417	0.987000	0.45799	0.987000	0.75469	4.544000	0.60691	0.939000	0.37446	0.533000	0.62120	CTG		0.612	CCDC142-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000328391.1	NM_032779		8	111	0	0	0	0.27861	0	8	111					T	74708964	A	T	74708964	3	4	47	1	0	0	0	0	1	0	0	0	2776	188	7	5	1266	5	CCDC142	2	74708964	Missense_Mutation	SNP	A	TCGA-EJ-5497-01A-02D-1576-08		74708964	168490409	5	2541											
AFF3	3899	broad.mit.edu	37	chr2	100199303	100199303	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcagctggctgtcggccttaGgctttttgctggaagaggct	5	12	15	9	1	0	1	0	0	0	1	1	2	0	2	1	5	2	6	1	5	2	3			TCGA-EJ-5497-01A-02D-1576-08	TCGA-EJ-5497-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	924c20dd-38c1-48a7-83c6-fd1bdffda680	f6c01a65-6505-4d90-a07f-9c7285b4cf58	g.chr2:100199303G>C	ENST00000409236.2	-	15	2862	c.2750C>G	c.(2749-2751)cCt>cGt	p.P917R	AFF3_ENST00000317233.4_Missense_Mutation_p.P917R|AFF3_ENST00000409579.1_Missense_Mutation_p.P942R|AFF3_ENST00000356421.2_Missense_Mutation_p.P942R			P51826	AFF3_HUMAN	AF4/FMR2 family, member 3	917					embryonic hindlimb morphogenesis (GO:0035116)|regulation of transcription, DNA-templated (GO:0006355)|response to tumor necrosis factor (GO:0034612)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)	p.P942R(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						GTCGGCCTTAGGCTTTTTGCT	0.478																																						ENST00000317233.4																			1	Substitution - Missense(1)	p.P942R(1)	prostate(1)	NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						c.(2749-2751)cCt>cGt		AF4/FMR2 family, member 3							143	130	135					2																	100199303		2203	4300	6503	SO:0001583	missense	3899				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr2:100199303G>C	U34360	CCDS33258.1, CCDS42723.1	2q11.2-q12	2008-02-05	2005-06-27	2005-06-27	ENSG00000144218	ENSG00000144218			6473	protein-coding gene	gene with protein product		601464	"lymphoid nuclear protein related to AF4"	LAF4		8662235, 8555498	Standard	XM_005263945		Approved	MLLT2-like	uc002taf.3	P51826	OTTHUMG00000153011	ENST00000409236.2:c.2750C>G	2.37:g.100199303G>C	ENSP00000387207:p.Pro917Arg					AFF3_ENST00000409579.1_Missense_Mutation_p.P942R|AFF3_ENST00000356421.2_Missense_Mutation_p.P942R|AFF3_ENST00000409236.1_Missense_Mutation_p.P917R	p.P917R	NM_002285.2	NP_002276.2	P51826	AFF3_HUMAN			16	2985	-			917					B7ZM46|B9EGL9|D3DVI6|Q53RD6|Q53S47|Q53SI6|Q53TB9|Q59F27|Q8IWJ5	Missense_Mutation	SNP	ENST00000409236.2	37	c.2750C>G	CCDS42723.1	.	.	.	.	.	.	.	.	.	.	G	8.400	0.841763	0.16963	.	.	ENSG00000144218	ENST00000317233;ENST00000356421;ENST00000409579;ENST00000409236	T;T;T;T	0.63255	-0.03;-0.03;-0.03;-0.03	5.93	-0.526	0.11913	.	0.854108	0.10212	N	0.702044	T	0.34483	0.0899	N	0.05306	-0.075	0.33780	D	0.624137	B;B	0.06786	0.0;0.001	B;B	0.09377	0.004;0.001	T	0.34551	-0.9824	10	0.20046	T	0.44	.	6.9318	0.24445	0.0949:0.0731:0.5962:0.2358	.	917;942	P51826;P51826-2	AFF3_HUMAN;.	R	917;942;942;917	ENSP00000317421:P917R;ENSP00000348793:P942R;ENSP00000386834:P942R;ENSP00000387207:P917R	ENSP00000317421:P917R	P	-	2	0	AFF3	99565735	0.465000	0.25815	0.783000	0.31826	0.613000	0.37349	0.447000	0.21710	-0.031000	0.13781	-0.262000	0.10625	CCT		0.478	AFF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328982.3	NM_002285		8	158	0	0	0	0.27861	0	8	158					C	100199303	G	C	100199303	3	2	47	1	0	0	0	0	1	0	0	0	358	1000	35	5	966	5	AFF3	2	100199303	Missense_Mutation	SNP	G	TCGA-EJ-5497-01A-02D-1576-08	25490339	100199303	143000070	6	2542											
FASTKD2	22868	broad.mit.edu	37	chr2	207636634	207636634	+	Frame_Shift_Del	DEL	A	A	-																															ttagatgaaagccttgagggAattagacagattttctgttt																										TCGA-EJ-5497-01A-02D-1576-08	TCGA-EJ-5497-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	924c20dd-38c1-48a7-83c6-fd1bdffda680	f6c01a65-6505-4d90-a07f-9c7285b4cf58	g.chr2:207636634delA	ENST00000236980.6	+	5	1355	c.1007delA	c.(1006-1008)gaafs	p.E336fs	FASTKD2_ENST00000403094.3_Frame_Shift_Del_p.E336fs|FASTKD2_ENST00000402774.3_Frame_Shift_Del_p.E336fs	NM_014929.3	NP_055744.2	Q9NYY8	FAKD2_HUMAN	FAST kinase domains 2	336					cellular respiration (GO:0045333)	mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(2)	21				LUSC - Lung squamous cell carcinoma(261;0.0718)|Epithelial(149;0.119)|Lung(261;0.138)		GCCTTGAGGGAATTAGACAGA	0.318																																						ENST00000236980.6																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(2)	21						c.(1006-1008)gafs		FAST kinase domains 2							80	83	82					2																	207636634		2203	4300	6503	SO:0001589	frameshift_variant	22868				apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity	g.chr2:207636634delA	BC001544	CCDS2371.1	2q33.3	2008-02-05	2006-07-07	2006-07-07	ENSG00000118246	ENSG00000118246			29160	protein-coding gene	gene with protein product		612322	"KIAA0971"	KIAA0971			Standard	NM_014929		Approved		uc002vbx.3	Q9NYY8	OTTHUMG00000132917	ENST00000236980.6:c.1007delA	2.37:g.207636634delA	ENSP00000236980:p.Glu336fs					FASTKD2_ENST00000402774.3_Frame_Shift_Del_p.E336fs|FASTKD2_ENST00000403094.3_Frame_Shift_Del_p.E336fs	p.E336fs	NM_014929.3	NP_055744.2	Q9NYY8	FAKD2_HUMAN		LUSC - Lung squamous cell carcinoma(261;0.0718)|Epithelial(149;0.119)|Lung(261;0.138)	5	1355	+			336					Q9NVX6|Q9Y2H7	Frame_Shift_Del	DEL	ENST00000236980.6	37	c.1007delA	CCDS2371.1																																																																																				0.318	FASTKD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256428.2	NM_014929		38	164						38	164	---	---	---	---	-	207636634	A	-	207636634	7	5	47	1	0	1	0	1	0	0	0	0	5686	246	9	0	1021	0	FASTKD2	2	207636634	Frame_Shift_Del	DEL	A	TCGA-EJ-5497-01A-02D-1576-08	107437331	207636634	35562739	7	2543											
CPS1	1373	broad.mit.edu	37	chr2	211454904	211454904	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tatgatgggattttgatcgcGggaggaccggggaacccagc	9	8	16	8	3	0	2	0	2	0	0	1	6	0	6	2	5	2	0	2	5	2	3			TCGA-EJ-5497-01A-02D-1576-08	TCGA-EJ-5497-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	924c20dd-38c1-48a7-83c6-fd1bdffda680	f6c01a65-6505-4d90-a07f-9c7285b4cf58	g.chr2:211454904G>A	ENST00000233072.5	+	8	982	c.786G>A	c.(784-786)gcG>gcA	p.A262A	CPS1_ENST00000430249.2_Silent_p.A268A	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN	carbamoyl-phosphate synthase 1, mitochondrial	262	Glutamine amidotransferase type-1.				anion homeostasis (GO:0055081)|carbamoyl phosphate biosynthetic process (GO:0070409)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to cAMP (GO:0071320)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to glucagon stimulus (GO:0071377)|cellular response to oleic acid (GO:0071400)|citrulline biosynthetic process (GO:0019240)|glutamine catabolic process (GO:0006543)|glycogen catabolic process (GO:0005980)|hepatocyte differentiation (GO:0070365)|homocysteine metabolic process (GO:0050667)|midgut development (GO:0007494)|nitric oxide metabolic process (GO:0046209)|positive regulation of vasodilation (GO:0045909)|response to amine (GO:0014075)|response to amino acid (GO:0043200)|response to dexamethasone (GO:0071548)|response to drug (GO:0042493)|response to food (GO:0032094)|response to growth hormone (GO:0060416)|response to lipopolysaccharide (GO:0032496)|response to starvation (GO:0042594)|response to toxic substance (GO:0009636)|response to zinc ion (GO:0010043)|small molecule metabolic process (GO:0044281)|triglyceride catabolic process (GO:0019433)|urea cycle (GO:0000050)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|carbamoyl-phosphate synthase (ammonia) activity (GO:0004087)|endopeptidase activity (GO:0004175)|glutamate binding (GO:0016595)|modified amino acid binding (GO:0072341)|phospholipid binding (GO:0005543)	p.A262A(1)		breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)	Carglumic Acid(DB06775)	TTTTGATCGCGGGAGGACCGG	0.483																																						ENST00000233072.5																			1	Substitution - coding silent(1)	p.A262A(1)	prostate(1)	breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142						c.(784-786)gcG>gcA		carbamoyl-phosphate synthase 1, mitochondrial							222	231	228					2																	211454904		2203	4300	6503	SO:0001819	synonymous_variant	1373				carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity	g.chr2:211454904G>A	AF154830	CCDS2393.1, CCDS46505.1, CCDS46506.1	2p	2014-09-17	2010-05-11		ENSG00000021826	ENSG00000021826	6.3.4.16		2323	protein-coding gene	gene with protein product		608307	"carbamoyl-phosphate synthetase 1, mitochondrial"				Standard	NM_001122633		Approved		uc002vee.4	P31327	OTTHUMG00000132994	ENST00000233072.5:c.786G>A	2.37:g.211454904G>A						CPS1_ENST00000430249.2_Silent_p.A268A	p.A262A	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN		Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)	8	982	+			262			Glutamine amidotransferase type-1.		B7Z818|J3KQL0|O43774|Q53TL5|Q59HF8|Q7Z5I5	Silent	SNP	ENST00000233072.5	37	c.786G>A	CCDS2393.1																																																																																				0.483	CPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256569.5			24	534	0	0	0	0.639603	0	24	534					A	211454904	G	A	211454904	2	1	47	1	0	0	0	0	0	0	0	1	3823	1103	39	2		2	CPS1	2	211454904	Silent	SNP	G	TCGA-EJ-5497-01A-02D-1576-08	3818270	211454904	31744469	8	2544											
RAPGEF2	9693	broad.mit.edu	37	chr4	160260299	160260299	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtgctaagggtttttaaggCtgatcagcaaagccgctaca	12	10	11	8	1	1	1	1	1	0	0	1	1	1	1	1	2	4	5	1	2	4	5			TCGA-EJ-5497-01A-02D-1576-08	TCGA-EJ-5497-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	924c20dd-38c1-48a7-83c6-fd1bdffda680	f6c01a65-6505-4d90-a07f-9c7285b4cf58	g.chr4:160260299C>T	ENST00000264431.4	+	13	2263	c.1844C>T	c.(1843-1845)gCt>gTt	p.A615V		NM_014247.2	NP_055062.1	Q9Y4G8	RPGF2_HUMAN	Rap guanine nucleotide exchange factor (GEF) 2	615	Ras-associating. {ECO:0000255|PROSITE- ProRule:PRU00166}.				adenylate cyclase-activating adrenergic receptor signaling pathway (GO:0071880)|blood vessel development (GO:0001568)|brain-derived neurotrophic factor receptor signaling pathway (GO:0031547)|cAMP-mediated signaling (GO:0019933)|cellular response to cAMP (GO:0071320)|cellular response to cGMP (GO:0071321)|cellular response to nerve growth factor stimulus (GO:1990090)|establishment of endothelial barrier (GO:0061028)|forebrain neuron development (GO:0021884)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|MAPK cascade (GO:0000165)|negative regulation of cell proliferation (GO:0008285)|negative regulation of dendrite morphogenesis (GO:0050774)|negative regulation of melanin biosynthetic process (GO:0048022)|nerve growth factor signaling pathway (GO:0038180)|neuron migration (GO:0001764)|neuron projection development (GO:0031175)|neuropeptide signaling pathway (GO:0007218)|positive regulation of cAMP-dependent protein kinase activity (GO:2000481)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of dendritic cell apoptotic process (GO:2000670)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron migration (GO:2001224)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein binding (GO:0032092)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of Rap GTPase activity (GO:0032854)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of vasculogenesis (GO:2001214)|Rap protein signal transduction (GO:0032486)|regulation of cell junction assembly (GO:1901888)|regulation of synaptic plasticity (GO:0048167)|small GTPase mediated signal transduction (GO:0007264)|ventricular system development (GO:0021591)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|synapse (GO:0045202)	beta-1 adrenergic receptor binding (GO:0031697)|calcium ion binding (GO:0005509)|cAMP binding (GO:0030552)|diacylglycerol binding (GO:0019992)|PDZ domain binding (GO:0030165)|Rap GTPase activator activity (GO:0046582)|Rap guanyl-nucleotide exchange factor activity (GO:0017034)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|signal transducer activity (GO:0004871)|WW domain binding (GO:0050699)	p.A615V(1)|p.A603V(1)		breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	70	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.0817)		GTTTTTAAGGCTGATCAGCAA	0.423																																						ENST00000264431.4																			2	Substitution - Missense(2)	p.A615V(1)|p.A603V(1)	prostate(2)	breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	70						c.(1843-1845)gCt>gTt		Rap guanine nucleotide exchange factor (GEF) 2							169	152	157					4																	160260299		1893	4108	6001	SO:0001583	missense	9693				cAMP-mediated signaling|MAPKKK cascade|small GTPase mediated signal transduction	integral to plasma membrane|intracellular	calcium ion binding|diacylglycerol binding|Rap GTPase activator activity|Rap guanyl-nucleotide exchange factor activity|signal transducer activity	g.chr4:160260299C>T	AB002311	CCDS43277.1	4q32.1	2004-03-01	2004-03-01	2004-03-01					16854	protein-coding gene	gene with protein product	"Rap GEP"	609530	"PDZ domain containing guanine nucleotide exchange factor (GEF) 1"	PDZGEF1		9205841, 10934204	Standard	NM_014247		Approved	PDZ-GEF1, RA-GEF, DKFZP586O1422, KIAA0313	uc003iqg.4	Q9Y4G8		ENST00000264431.4:c.1844C>T	4.37:g.160260299C>T	ENSP00000264431:p.Ala615Val						p.A615V	NM_014247.2	NP_055062.1	Q9Y4G8	RPGF2_HUMAN		COAD - Colon adenocarcinoma(41;0.0817)	13	2263	+	all_hematologic(180;0.24)		615			Ras-associating.		D3DP27	Missense_Mutation	SNP	ENST00000264431.4	37	c.1844C>T	CCDS43277.1	.	.	.	.	.	.	.	.	.	.	C	28.9	4.961132	0.92791	.	.	ENSG00000109756	ENST00000264431	T	0.16073	2.37	5.57	5.57	0.84162	Ras-association (3);Ras guanine nucleotide exchange factor, domain (1);	0.000000	0.85682	D	0.000000	T	0.31104	0.0786	M	0.68952	2.095	0.80722	D	1	P	0.36874	0.572	B	0.44278	0.445	T	0.01356	-1.1376	10	0.41790	T	0.15	.	19.5396	0.95268	0.0:1.0:0.0:0.0	.	615	Q9Y4G8	RPGF2_HUMAN	V	615	ENSP00000264431:A615V	ENSP00000264431:A615V	A	+	2	0	RAPGEF2	160479749	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.707000	0.84623	2.611000	0.88343	0.591000	0.81541	GCT		0.423	RAPGEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364980.2	NM_014247		6	355	0	0	0	0.217242	0	6	355					T	160260299	C	T	160260299	3	4	47	1	0	0	0	0	1	0	0	0	13044	797	28	3	1894	3	RAPGEF2	4	160260299	Missense_Mutation	SNP	C	TCGA-EJ-5497-01A-02D-1576-08		160260299	30893977	9	2545											
PSD2	84249	broad.mit.edu	37	chr5	139201586	139201586	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaccctgatgacagcacttcGgaaggtatggccccttgccc	9	8	10	14	1	0	2	0	2	0	0	1	3	0	3	4	3	3	2	4	3	3	3			TCGA-EJ-5497-01A-02D-1576-08	TCGA-EJ-5497-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	924c20dd-38c1-48a7-83c6-fd1bdffda680	f6c01a65-6505-4d90-a07f-9c7285b4cf58	g.chr5:139201586G>A	ENST00000274710.3	+	6	1411	c.1206G>A	c.(1204-1206)tcG>tcA	p.S402S		NM_032289.2	NP_115665.1	Q9BQI7	PSD2_HUMAN	pleckstrin and Sec7 domain containing 2	402	SEC7. {ECO:0000255|PROSITE- ProRule:PRU00189}.				neuron differentiation (GO:0030182)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|phospholipid binding (GO:0005543)	p.S402S(1)		breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(10)|liver(2)|lung(15)|ovary(1)|prostate(2)	38			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACAGCACTTCGGAAGGTATGG	0.637																																						ENST00000274710.3																			1	Substitution - coding silent(1)	p.S402S(1)	prostate(1)	breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(10)|liver(2)|lung(15)|ovary(1)|prostate(2)	38						c.(1204-1206)tcG>tcA		pleckstrin and Sec7 domain containing 2							155	111	126					5																	139201586		2203	4300	6503	SO:0001819	synonymous_variant	84249				regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity	g.chr5:139201586G>A	AL136559	CCDS4216.1	5q31.3	2013-01-10			ENSG00000146005	ENSG00000146005		"Pleckstrin homology (PH) domain containing"	19092	protein-coding gene	gene with protein product							Standard	NM_032289		Approved	DKFZp761B0514	uc003leu.1	Q9BQI7	OTTHUMG00000129240	ENST00000274710.3:c.1206G>A	5.37:g.139201586G>A							p.S402S	NM_032289.2	NP_115665.1	Q9BQI7	PSD2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		6	1411	+			402			SEC7.		D3DQD3|Q8N3J8	Silent	SNP	ENST00000274710.3	37	c.1206G>A	CCDS4216.1																																																																																				0.637	PSD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251339.1	NM_032289		9	82	0	0	0	0.307466	0	9	82					A	139201586	G	A	139201586	2	1	47	1	0	0	0	0	0	0	0	1	12647	1103	39	2		2	PSD2	5	139201586	Silent	SNP	G	TCGA-EJ-5497-01A-02D-1576-08		139201586	41713674	10	2546											
PCDHA2	56146	broad.mit.edu	37	chr5	140176553	140176553	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acggccaccgtgttagtgtcGttggtggaaagtggccaggc	7	9	16	9	3	0	0	0	0	0	0	1	1	0	1	3	5	0	2	3	5	2	2	rs369554786		TCGA-EJ-5497-01A-02D-1576-08	TCGA-EJ-5497-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	924c20dd-38c1-48a7-83c6-fd1bdffda680	f6c01a65-6505-4d90-a07f-9c7285b4cf58	g.chr5:140176553G>A	ENST00000526136.1	+	1	2004	c.2004G>A	c.(2002-2004)tcG>tcA	p.S668S	PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000378132.1_Silent_p.S668S|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000520672.2_Silent_p.S668S	NM_018905.2	NP_061728.1	Q9Y5H9	PCDA2_HUMAN	protocadherin alpha 2	668	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.S668S(2)		NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGTTAGTGTCGTTGGTGGAAA	0.652																																						ENST00000526136.1																			2	Substitution - coding silent(2)	p.S668S(2)	prostate(2)	NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)	71						c.(2002-2004)tcG>tcA				G	,,,	1,4405	2.1+/-5.4	0,1,2202	75	75	75		,2004,,2004	-1.7	1	5		75	0,8600		0,0,4300	no	intron,coding-synonymous,intron,coding-synonymous	PCDHA2,PCDHA1	NM_018900.2,NM_018905.2,NM_031411.1,NM_031495.1	,,,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,,,	,668/949,,668/825	140176553	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0							g.chr5:140176553G>A	AF152480	CCDS54914.1, CCDS64269.1	5q31	2010-11-26				ENSG00000204969		"Cadherins / Protocadherins : Clustered"	8668	other	complex locus constituent	"KIAA0345-like 12"	606308				10380929	Standard	NM_018905		Approved			Q9Y5H9		ENST00000526136.1:c.2004G>A	5.37:g.140176553G>A						PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000378132.1_Silent_p.S668S|PCDHA2_ENST00000520672.2_Silent_p.S668S	p.S668S	NM_018905.2	NP_061728.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2004	+								O75287|Q9BTV3	Silent	SNP	ENST00000526136.1	37	c.2004G>A	CCDS54914.1																																																																																				0.652	PCDHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372877.3	NM_018905		11	126	0	0	0	0.38729	0	11	126					A	140176553	G	A	140176553	2	1	47	1	0	0	0	0	0	0	0	1	11524	1132	40	1		1	PCDHA2	5	140176553	Silent	SNP	G	TCGA-EJ-5497-01A-02D-1576-08	974967	140176553	40738707	11	2547											
PBX2	5089	broad.mit.edu	37	chr6	32157563	32157563	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cttccctcggcctcccgggaCccccccgctacccccaccgg	3	5	8	25	4	0	0	0	0	0	0	3	1	2	1	9	3	1	1	9	3	1	2			TCGA-EJ-5497-01A-02D-1576-08	TCGA-EJ-5497-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	924c20dd-38c1-48a7-83c6-fd1bdffda680	f6c01a65-6505-4d90-a07f-9c7285b4cf58	g.chr6:32157563C>A	ENST00000375050.4	-	1	400	c.130G>T	c.(130-132)Gtc>Ttc	p.V44F		NM_002586.4	NP_002577.2	P40425	PBX2_HUMAN	pre-B-cell leukemia homeobox 2	44					embryonic limb morphogenesis (GO:0030326)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proximal/distal pattern formation (GO:0009954)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)	p.V44F(2)		endometrium(1)|kidney(1)|lung(9)|ovary(1)|prostate(2)	14						CCTCCCGGGACCCCCCCGCTA	0.711																																						ENST00000375050.4																			2	Substitution - Missense(2)	p.V44F(2)	prostate(1)|lung(1)	endometrium(1)|kidney(1)|lung(9)|ovary(1)|prostate(2)	14						c.(130-132)Gtc>Ttc		pre-B-cell leukemia homeobox 2							29	31	30					6																	32157563		1509	2708	4217	SO:0001583	missense	5089						transcription factor binding	g.chr6:32157563C>A		CCDS4748.1	6p21.32	2011-06-20	2007-01-30		ENSG00000204304	ENSG00000204304		"Homeoboxes / TALE class"	8633	protein-coding gene	gene with protein product		176311	"pre-B-cell leukemia transcription factor 2"			7835890	Standard	NM_002586		Approved	G17, HOX12, PBX2MHC	uc003oav.1	P40425	OTTHUMG00000031116	ENST00000375050.4:c.130G>T	6.37:g.32157563C>A	ENSP00000364190:p.Val44Phe						p.V44F	NM_002586.4	NP_002577.2	P40425	PBX2_HUMAN			1	400	-			44					A2BFJ2	Missense_Mutation	SNP	ENST00000375050.4	37	c.130G>T	CCDS4748.1	.	.	.	.	.	.	.	.	.	.	C	18.17	3.564390	0.65651	.	.	ENSG00000204304	ENST00000375050	T	0.80653	-1.4	4.56	4.56	0.56223	.	0.219742	0.22684	N	0.056918	T	0.49098	0.1537	N	0.14661	0.345	0.37506	D	0.916978	B;B	0.30542	0.284;0.176	B;B	0.15052	0.012;0.012	T	0.58999	-0.7536	10	0.52906	T	0.07	-5.1027	10.8156	0.46573	0.0:0.8072:0.1928:0.0	.	44;44	Q7KZE5;P40425	.;PBX2_HUMAN	F	44	ENSP00000364190:V44F	ENSP00000364190:V44F	V	-	1	0	PBX2	32265541	0.974000	0.33945	1.000000	0.80357	0.971000	0.66376	1.692000	0.37731	2.062000	0.61559	0.542000	0.68232	GTC		0.711	PBX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076194.4			3	38	1	0	0.115264	0.115264	0.119614	3	38					A	32157563	C	A	32157563	3	1	47	1	0	0	0	0	1	0	0	0	11493	507	18	5	1198	5	PBX2	6	32157563	Missense_Mutation	SNP	C	TCGA-EJ-5497-01A-02D-1576-08		32157563	138957504	12	2548											
RSPH4A	345895	broad.mit.edu	37	chr6	116948990	116948990	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttgtagctgaagtggaatttCgtgagggggaagatgaagag	12	10	17	2	1	0	5	0	3	0	2	1	7	0	7	0	3	1	2	0	3	5	3			TCGA-EJ-5497-01A-02D-1576-08	TCGA-EJ-5497-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	924c20dd-38c1-48a7-83c6-fd1bdffda680	f6c01a65-6505-4d90-a07f-9c7285b4cf58	g.chr6:116948990C>T	ENST00000229554.5	+	3	1257	c.1120C>T	c.(1120-1122)Cgt>Tgt	p.R374C	RSPH4A_ENST00000368580.4_Intron|RSPH4A_ENST00000368581.4_Missense_Mutation_p.R374C	NM_001010892.2	NP_001010892.1	Q5TD94	RSH4A_HUMAN	radial spoke head 4 homolog A (Chlamydomonas)	374	Glu-rich.				axoneme assembly (GO:0035082)|cilium movement (GO:0003341)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|motile cilium (GO:0031514)|nucleolus (GO:0005730)|nucleus (GO:0005634)|radial spoke (GO:0001534)		p.R374C(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						AGTGGAATTTCGTgaggggga	0.453									Kartagener syndrome																													ENST00000229554.5																			1	Substitution - Missense(1)	p.R374C(1)	prostate(1)	breast(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						c.(1120-1122)Cgt>Tgt		radial spoke head 4 homolog A (Chlamydomonas)							75	76	76					6																	116948990		2203	4300	6503	SO:0001583	missense	345895	Kartagener syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	cilium axoneme assembly|cilium movement	cytoplasm|cytoskeleton|radial spoke		g.chr6:116948990C>T		CCDS34521.1, CCDS55051.1	6q22.1	2012-05-03	2009-02-17	2009-02-17	ENSG00000111834	ENSG00000111834			21558	protein-coding gene	gene with protein product		612647	"radial spokehead-like 3"	RSHL3		19200523	Standard	NM_001010892		Approved	dJ412I7.1, FLJ37974, RSPH6B, CILD11	uc003pxe.2	Q5TD94	OTTHUMG00000015444	ENST00000229554.5:c.1120C>T	6.37:g.116948990C>T	ENSP00000229554:p.Arg374Cys					RSPH4A_ENST00000368580.4_Intron|RSPH4A_ENST00000368581.4_Missense_Mutation_p.R374C	p.R374C	NM_001010892.2	NP_001010892.1	Q5TD94	RSH4A_HUMAN			3	1257	+			374			Glu-rich.		B4DSI1|Q3KP24|Q5TD95	Missense_Mutation	SNP	ENST00000229554.5	37	c.1120C>T	CCDS34521.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.143925	0.77888	.	.	ENSG00000111834	ENST00000368581;ENST00000229554;ENST00000447842	T;T	0.18810	2.19;2.19	5.48	5.48	0.80851	.	0.050582	0.85682	D	0.000000	T	0.44973	0.1319	M	0.84433	2.695	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.77004	0.972;0.989	T	0.50923	-0.8770	10	0.72032	D	0.01	-11.3144	16.8276	0.85935	0.0:1.0:0.0:0.0	.	374;374	Q5TD94-3;Q5TD94	.;RSH4A_HUMAN	C	374;374;169	ENSP00000357570:R374C;ENSP00000229554:R374C	ENSP00000229554:R374C	R	+	1	0	RSPH4A	117055683	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	3.973000	0.56845	2.542000	0.85734	0.591000	0.81541	CGT		0.453	RSPH4A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041960.1	NM_001010892		18	100	0	0	0	0.520397	0	18	100					T	116948990	C	T	116948990	3	4	47	1	0	0	0	0	1	0	0	0	13706	884	31	2	1130	2	RSPH4A	6	116948990	Missense_Mutation	SNP	C	TCGA-EJ-5497-01A-02D-1576-08	84791427	116948990	54166077	13	2549											
SYNE1	23345	broad.mit.edu	37	chr6	152639275	152639275	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtctgctggtgaagttcagTcagttttcctatcttcttgg	5	17	11	8	0	5	1	2	1	3	0	6	1	6	1	1	3	1	3	1	3	2	6			TCGA-EJ-5497-01A-02D-1576-08	TCGA-EJ-5497-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	924c20dd-38c1-48a7-83c6-fd1bdffda680	f6c01a65-6505-4d90-a07f-9c7285b4cf58	g.chr6:152639275T>C	ENST00000367255.5	-	86	17114	c.16513A>G	c.(16513-16515)Act>Gct	p.T5505A	SYNE1_ENST00000341594.5_Intron|SYNE1_ENST00000265368.4_Missense_Mutation_p.T5505A|SYNE1_ENST00000423061.1_Missense_Mutation_p.T5434A|SYNE1_ENST00000448038.1_Missense_Mutation_p.T5434A|SYNE1_ENST00000356820.4_Missense_Mutation_p.T29A	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	5505					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)	p.T5505A(3)		NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TGAAGTTCAGTCAGTTTTCCT	0.448										HNSCC(10;0.0054)																												ENST00000367255.5																			3	Substitution - Missense(3)	p.T5505A(3)	prostate(3)	NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524						c.(16513-16515)Act>Gct		spectrin repeat containing, nuclear envelope 1							265	232	243					6																	152639275		2203	4300	6503	SO:0001583	missense	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152639275T>C	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"myocyte nuclear envelope protein 1", "nuclear envelope spectrin repeat-1"	608441	"chromosome 6 open reading frame 98"	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.16513A>G	6.37:g.152639275T>C	ENSP00000356224:p.Thr5505Ala	HNSCC(10;0.0054)				SYNE1_ENST00000356820.4_Missense_Mutation_p.T29A|SYNE1_ENST00000423061.1_Missense_Mutation_p.T5434A|SYNE1_ENST00000448038.1_Missense_Mutation_p.T5434A|SYNE1_ENST00000265368.4_Missense_Mutation_p.T5505A|SYNE1_ENST00000341594.5_Intron	p.T5505A	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	86	17114	-		Ovarian(120;0.0955)	5505					E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	c.16513A>G	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	T	5.105	0.204982	0.09704	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000356820	T;T;T;T;T	0.34472	1.36;1.36;1.36;1.36;1.36	5.66	3.2	0.36748	.	0.404547	0.23718	N	0.045247	T	0.15912	0.0383	M	0.63843	1.955	0.32364	N	0.556774	B;B;B;B	0.15473	0.013;0.002;0.002;0.003	B;B;B;B	0.19391	0.025;0.004;0.004;0.015	T	0.07693	-1.0759	10	0.32370	T	0.25	.	7.865	0.29533	0.1233:0.0674:0.0:0.8093	.	5505;5505;5505;5434	Q8NF91-7;Q8NF91;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.	A	5505;5434;5505;5434;29	ENSP00000356224:T5505A;ENSP00000396024:T5434A;ENSP00000265368:T5505A;ENSP00000390975:T5434A;ENSP00000349276:T29A	ENSP00000265368:T5505A	T	-	1	0	SYNE1	152680968	0.942000	0.31987	0.706000	0.30403	0.164000	0.22412	0.642000	0.24735	0.397000	0.25310	0.533000	0.62120	ACT		0.448	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		9	188	0	0	0	0.307466	0	9	188					C	152639275	T	C	152639275	3	2	47	1	0	0	0	0	1	0	0	0	15442	1667	58	4	10197	4	SYNE1	6	152639275	Missense_Mutation	SNP	T	TCGA-EJ-5497-01A-02D-1576-08	35690285	152639275	18475792	14	2550											
KRBA1	84626	broad.mit.edu	37	chr7	149431015	149431015	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtgccgacctcaggagtggCaccagacgggatcccagagc	9	4	14	14	3	1	2	1	0	0	2	2	5	2	4	4	3	2	1	4	3	0	0			TCGA-EJ-5497-01A-02D-1576-08	TCGA-EJ-5497-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	924c20dd-38c1-48a7-83c6-fd1bdffda680	f6c01a65-6505-4d90-a07f-9c7285b4cf58	g.chr7:149431015C>G	ENST00000485033.2	+	15	2789	c.2789C>G	c.(2788-2790)gCa>gGa	p.A930G	KRBA1_ENST00000255992.10_Missense_Mutation_p.A990G|KRBA1_ENST00000479560.1_3'UTR|KRBA1_ENST00000319551.8_Missense_Mutation_p.A930G			A5PL33	KRBA1_HUMAN	KRAB-A domain containing 1	991	Pro-rich.							p.A990G(1)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(17)|ovary(1)|prostate(1)	27	Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			TCAGGAGTGGCACCAGACGGG	0.667																																						ENST00000255992.10																			1	Substitution - Missense(1)	p.A990G(1)	prostate(1)	breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(17)|ovary(1)|prostate(1)	27						c.(2968-2970)gCa>gGa		KRAB-A domain containing 1							10	13	12					7																	149431015		1959	4161	6120	SO:0001583	missense	84626							g.chr7:149431015C>G	AB058765	CCDS75674.1	7q36	2014-02-12	2006-08-15		ENSG00000133619	ENSG00000133619		"-"	22228	protein-coding gene	gene with protein product			"KRAB A domain containing 1"				Standard	NM_001290187		Approved	KIAA1862	uc003wfz.3	A5PL33	OTTHUMG00000157886	ENST00000485033.2:c.2789C>G	7.37:g.149431015C>G	ENSP00000420112:p.Ala930Gly					KRBA1_ENST00000319551.8_Missense_Mutation_p.A930G|KRBA1_ENST00000485033.2_Missense_Mutation_p.A930G|KRBA1_ENST00000479560.1_3'UTR	p.A990G	NM_032534.2	NP_115923.2	A5PL33	KRBA1_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00625)		18	3368	+	Melanoma(164;0.165)|Ovarian(565;0.177)		991			Pro-rich.		A7E2F5|E7ENE9|Q8N4X0|Q96JG5	Missense_Mutation	SNP	ENST00000485033.2	37	c.2969C>G		.	.	.	.	.	.	.	.	.	.	C	19.81	3.896013	0.72639	.	.	ENSG00000133619	ENST00000255992;ENST00000319551;ENST00000485033	T;T;T	0.47528	0.88;0.84;0.84	5.05	-2.42	0.06542	.	0.499782	0.15043	N	0.283767	T	0.29882	0.0747	.	.	.	0.09310	N	1	B;B	0.24258	0.1;0.037	B;B	0.23018	0.043;0.025	T	0.22068	-1.0227	9	0.66056	D	0.02	-0.6479	5.5429	0.17047	0.0:0.2823:0.1576:0.56	.	930;991	E7ENE9;A5PL33	.;KRBA1_HUMAN	G	990;930;930	ENSP00000255992:A990G;ENSP00000317165:A930G;ENSP00000420112:A930G	ENSP00000255992:A990G	A	+	2	0	KRBA1	149061948	0.000000	0.05858	0.000000	0.03702	0.545000	0.35147	-0.210000	0.09345	-0.084000	0.12595	0.655000	0.94253	GCA		0.667	KRBA1-004	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000349841.3	NM_032534		2	10	0	0	0	0.115264	0	2	10					G	149431015	C	G	149431015	3	3	47	1	0	0	0	0	1	0	0	0	8439	710	25	5	3033	5	KRBA1	7	149431015	Missense_Mutation	SNP	C	TCGA-EJ-5497-01A-02D-1576-08		149431015	9707648	15	2551											
RIPK2	8767	broad.mit.edu	37	chr8	90801576	90801576	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcaagactgttattttatgaAgctgcatcactgtcctggaa	11	14	8	8	0	2	2	2	1	0	1	3	3	3	3	1	1	2	3	1	1	5	3	rs200241122		TCGA-EJ-5497-01A-02D-1576-08	TCGA-EJ-5497-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	924c20dd-38c1-48a7-83c6-fd1bdffda680	f6c01a65-6505-4d90-a07f-9c7285b4cf58	g.chr8:90801576A>G	ENST00000220751.4	+	10	1465	c.1151A>G	c.(1150-1152)aAg>aGg	p.K384R	RIPK2_ENST00000540020.1_Missense_Mutation_p.K247R	NM_003821.5	NP_003812.1	O43353	RIPK2_HUMAN	receptor-interacting serine-threonine kinase 2	384					activation of MAPK activity (GO:0000187)|adaptive immune response (GO:0002250)|apoptotic process (GO:0006915)|cellular response to lipoteichoic acid (GO:0071223)|cellular response to muramyl dipeptide (GO:0071225)|cellular response to peptidoglycan (GO:0071224)|defense response to Gram-positive bacterium (GO:0050830)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing 1 signaling pathway (GO:0070427)|nucleotide-binding oligomerization domain containing 2 signaling pathway (GO:0070431)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of alpha-beta T cell proliferation (GO:0046641)|positive regulation of apoptotic process (GO:0043065)|positive regulation of chemokine production (GO:0032722)|positive regulation of cytokine-mediated signaling pathway (GO:0001961)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of immature T cell proliferation (GO:0033091)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of JNK cascade (GO:0046330)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of T-helper 1 cell differentiation (GO:0045627)|positive regulation of T-helper 1 type immune response (GO:0002827)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|response to exogenous dsRNA (GO:0043330)|response to interleukin-1 (GO:0070555)|response to interleukin-12 (GO:0070671)|response to interleukin-18 (GO:0070673)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|T cell proliferation (GO:0042098)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|protein complex (GO:0043234)|vesicle (GO:0031982)	ATP binding (GO:0005524)|CARD domain binding (GO:0050700)|LIM domain binding (GO:0030274)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activity (GO:0004674)|signal transducer activity (GO:0004871)	p.K384R(2)		kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(2)	10			BRCA - Breast invasive adenocarcinoma(11;0.0474)			TATTTTATGAAGCTGCATCAC	0.398																																						ENST00000220751.4																			2	Substitution - Missense(2)	p.K384R(2)	prostate(2)	kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(2)	10						c.(1150-1152)aAg>aGg		receptor-interacting serine-threonine kinase 2							140	132	134					8																	90801576		2203	4300	6503	SO:0001583	missense	8767				activation of MAPK activity|anti-apoptosis|apoptosis|inflammatory response|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of protein ubiquitination|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol	ATP binding|CARD domain binding|LIM domain binding|protein homodimerization activity|protein serine/threonine kinase activity|signal transducer activity	g.chr8:90801576A>G	AC004003	CCDS6247.1	8q21	2008-05-02			ENSG00000104312	ENSG00000104312			10020	protein-coding gene	gene with protein product		603455				9575181, 9705938	Standard	XM_005251092		Approved	RICK, RIP2, CARDIAK, CARD3	uc003yee.3	O43353	OTTHUMG00000163809	ENST00000220751.4:c.1151A>G	8.37:g.90801576A>G	ENSP00000220751:p.Lys384Arg					RIPK2_ENST00000540020.1_Missense_Mutation_p.K247R	p.K384R	NM_003821.5	NP_003812.1	O43353	RIPK2_HUMAN	BRCA - Breast invasive adenocarcinoma(11;0.0474)		10	1465	+			384					B7Z748|Q6UWF0	Missense_Mutation	SNP	ENST00000220751.4	37	c.1151A>G	CCDS6247.1	.	.	.	.	.	.	.	.	.	.	A	6.338	0.430463	0.12045	.	.	ENSG00000104312	ENST00000220751;ENST00000540020	T;T	0.80909	-1.21;-1.43	5.89	-6.02	0.02192	.	2.123510	0.02477	N	0.088139	T	0.58991	0.2161	N	0.14661	0.345	0.09310	N	1	B	0.13145	0.007	B	0.15052	0.012	T	0.50065	-0.8871	10	0.15952	T	0.53	4.052	2.7618	0.05308	0.2272:0.4171:0.1527:0.203	.	384	O43353	RIPK2_HUMAN	R	384;247	ENSP00000220751:K384R;ENSP00000441623:K247R	ENSP00000220751:K384R	K	+	2	0	RIPK2	90870717	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.412000	0.07132	-1.462000	0.01907	-2.465000	0.00204	AAG		0.398	RIPK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375686.1			6	259	0	0	0	0.248553	0	6	259					G	90801576	A	G	90801576	3	3	47	1	0	0	0	0	1	0	0	0	13381	72	3	4	1189	4	RIPK2	8	90801576	Missense_Mutation	SNP	A	TCGA-EJ-5497-01A-02D-1576-08		90801576	55562446	16	2552											
CSMD3	114788	broad.mit.edu	37	chr8	113275870	113275870	+	Frame_Shift_Del	DEL	A	A	-																															agtagaaatcatacttacgtAagcactgcggtacttcacca																										TCGA-EJ-5497-01A-02D-1576-08	TCGA-EJ-5497-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	924c20dd-38c1-48a7-83c6-fd1bdffda680	f6c01a65-6505-4d90-a07f-9c7285b4cf58	g.chr8:113275870delA	ENST00000297405.5	-	61	10104	c.9860delT	c.(9859-9861)ttafs	p.L3287fs	CSMD3_ENST00000352409.3_Frame_Shift_Del_p.L3217fs|CSMD3_ENST00000343508.3_Frame_Shift_Del_p.L3247fs|CSMD3_ENST00000455883.2_Frame_Shift_Del_p.L3118fs	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3287	Sushi 25. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						ATACTTACGTAAGCACTGCGG	0.388										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												ENST00000297405.5																			0				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						c.(9859-9861)tafs		CUB and Sushi multiple domains 3							78	66	70					8																	113275870		2203	4300	6503	SO:0001589	frameshift_variant	114788					integral to membrane|plasma membrane		g.chr8:113275870delA	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.9860delT	8.37:g.113275870delA	ENSP00000297405:p.Leu3287fs	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_ENST00000455883.2_Frame_Shift_Del_p.L3118fs|CSMD3_ENST00000352409.3_Frame_Shift_Del_p.L3217fs|CSMD3_ENST00000343508.3_Frame_Shift_Del_p.L3247fs	p.L3287fs	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN			61	10104	-			3287			Sushi 25.		Q96PZ3	Frame_Shift_Del	DEL	ENST00000297405.5	37	c.9860delT	CCDS6315.1																																																																																				0.388	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		20	58						20	58	---	---	---	---	-	113275870	A	-	113275870	7	5	47	1	0	1	0	1	0	0	0	0	3946	372	13	0	1307	0	CSMD3	8	113275870	Frame_Shift_Del	DEL	A	TCGA-EJ-5497-01A-02D-1576-08	22474294	113275870	33088152	17	2553											
HSF1	3297	broad.mit.edu	37	chr8	145534873	145534873	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gttgcagtgagaatgaggctCtgtggcgggaggtggccagc	7	8	19	7	1	1	2	0	2	1	1	1	4	1	3	1	5	2	3	1	5	1	1			TCGA-EJ-5497-01A-02D-1576-08	TCGA-EJ-5497-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	924c20dd-38c1-48a7-83c6-fd1bdffda680	f6c01a65-6505-4d90-a07f-9c7285b4cf58	g.chr8:145534873C>T	ENST00000528838.1	+	5	662	c.502C>T	c.(502-504)Ctg>Ttg	p.L168L	HSF1_ENST00000400780.4_Silent_p.L103L	NM_005526.2	NP_005517.1	Q00613	HSF1_HUMAN	heat shock transcription factor 1	168	Hydrophobic repeat HR-A/B.				cellular response to heat (GO:0034605)|defense response (GO:0006952)|embryonic placenta development (GO:0001892)|embryonic process involved in female pregnancy (GO:0060136)|female meiotic division (GO:0007143)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of tumor necrosis factor production (GO:0032720)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of spindle checkpoint (GO:0090231)|response to lipopolysaccharide (GO:0032496)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|pronucleus (GO:0045120)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II intronic transcription regulatory region sequence-specific DNA binding (GO:0001162)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.L168L(1)		endometrium(1)|large_intestine(1)|lung(3)|prostate(3)|skin(1)|urinary_tract(2)	11	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.94e-40)|Epithelial(56;1.12e-39)|all cancers(56;9.11e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0547)|Colorectal(110;0.055)			GAATGAGGCTCTGTGGCGGGA	0.667																																						ENST00000528838.1																			1	Substitution - coding silent(1)	p.L168L(1)	prostate(1)	endometrium(1)|large_intestine(1)|lung(3)|prostate(3)|skin(1)|urinary_tract(2)	11						c.(502-504)Ctg>Ttg		heat shock transcription factor 1							15	15	15					8																	145534873		2199	4291	6490	SO:0001819	synonymous_variant	3297					cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity	g.chr8:145534873C>T	M64673	CCDS6419.1	8q24.3	2014-04-10			ENSG00000185122	ENSG00000185122			5224	protein-coding gene	gene with protein product		140580				1871105	Standard	NM_005526		Approved	HSTF1	uc003zbt.4	Q00613	OTTHUMG00000174604	ENST00000528838.1:c.502C>T	8.37:g.145534873C>T						HSF1_ENST00000400780.4_Silent_p.L103L	p.L168L	NM_005526.2	NP_005517.1	Q00613	HSF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;3.94e-40)|Epithelial(56;1.12e-39)|all cancers(56;9.11e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0547)|Colorectal(110;0.055)		5	662	+	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		168			Hydrophobic repeat HR-A/B.		A8K4L0|A8MW26|Q53XT4	Silent	SNP	ENST00000528838.1	37	c.502C>T	CCDS6419.1																																																																																				0.667	HSF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382053.1	NM_005526		3	3	0	0	0	0.115264	0	3	3					T	145534873	C	T	145534873	2	4	47	1	0	0	0	0	0	0	0	1	7395	912	32	3		3	HSF1	8	145534873	Silent	SNP	C	TCGA-EJ-5497-01A-02D-1576-08	32259003	145534873	829149	18	2554											
FAM75A3	727830	broad.mit.edu	37	chr9	40702847	40702847	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cctcaggatctggcctccacCccatcaccaggcccaatgac	9	6	7	19	0	3	1	2	1	1	0	4	2	4	2	7	3	0	0	7	3	1	0			TCGA-EJ-5497-01A-02D-1576-08	TCGA-EJ-5497-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	924c20dd-38c1-48a7-83c6-fd1bdffda680	f6c01a65-6505-4d90-a07f-9c7285b4cf58	g.chr9:40702847C>A	ENST00000356699.5	+	4	533	c.504C>A	c.(502-504)acC>acA	p.T168T	SPATA31A3_ENST00000463536.1_3'UTR|RP11-395E19.5_ENST00000432614.1_lincRNA	NM_001083124.1	NP_001076593.1	Q5VYP0	S31A3_HUMAN	SPATA31 subfamily A, member 3	168	Pro-rich.				cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)		p.T168T(2)									TGGCCTCCACCCCATCACCAG	0.597																																						ENST00000356699.5																			2	Substitution - coding silent(2)	p.T168T(2)	prostate(2)								c.(502-504)acC>acA		SPATA31 subfamily A, member 3							28	31	30					9																	40702847		1190	2947	4137	SO:0001819	synonymous_variant	727830							g.chr9:40702847C>A			9p12	2012-10-15	2012-10-12	2012-10-12	ENSG00000147926				32003	protein-coding gene	gene with protein product			"family with sequence similarity 75, member A3"	FAM75A3		20850414	Standard	NM_001083124		Approved	OTTHUMG00000013164, DKFZp434B204	uc010mmj.3	Q5VYP0	OTTHUMG00000013164	ENST00000356699.5:c.504C>A	9.37:g.40702847C>A						SPATA31A3_ENST00000463536.1_3'UTR	p.T168T	NM_001083124.1	NP_001076593.1					4	533	+									Silent	SNP	ENST00000356699.5	37	c.504C>A	CCDS47969.1																																																																																				0.597	SPATA31A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036919.1	NM_001083124		20	445	1	0	4.22769e-11	0.706142	4.84423e-11	20	445					A	40702847	C	A	40702847	2	1	47	1	0	0	0	0	0	0	0	1	5621	610	22	5		5	FAM75A3	9	40702847	Silent	SNP	C	TCGA-EJ-5497-01A-02D-1576-08		40702847	100510584	19	2555											
LPAR1	1902	broad.mit.edu	37	chr9	113703743	113703743	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cagaagactcatcatggtatCccgattccgccggggtccag	9	8	11	13	3	2	2	2	0	0	2	5	3	5	2	4	3	0	1	4	3	2	2			TCGA-EJ-5497-01A-02D-1576-08	TCGA-EJ-5497-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	924c20dd-38c1-48a7-83c6-fd1bdffda680	f6c01a65-6505-4d90-a07f-9c7285b4cf58	g.chr9:113703743C>T	ENST00000374431.3	-	4	1134	c.751G>A	c.(751-753)Gat>Aat	p.D251N	LPAR1_ENST00000538760.1_Missense_Mutation_p.D252N|LPAR1_ENST00000374430.2_Missense_Mutation_p.D251N|LPAR1_ENST00000358883.4_Missense_Mutation_p.D251N|LPAR1_ENST00000541779.1_Missense_Mutation_p.D252N	NM_057159.2	NP_476500.1	Q92633	LPAR1_HUMAN	lysophosphatidic acid receptor 1	251					activation of MAPK activity (GO:0000187)|activation of phospholipase C activity (GO:0007202)|bleb assembly (GO:0032060)|cellular response to oxygen levels (GO:0071453)|G-protein coupled receptor signaling pathway (GO:0007186)|myelination (GO:0042552)|negative regulation of neuron projection development (GO:0010977)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of Rho protein signal transduction (GO:0035025)|positive regulation of smooth muscle cell chemotaxis (GO:0071673)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|lysophosphatidic acid receptor activity (GO:0070915)|phospholipid binding (GO:0005543)	p.D251N(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(1)|ovary(2)|prostate(6)|skin(1)	21						ATCATGGTATCCCGATTCCGC	0.443																																					NSCLC(115;661 2323 9836 34256)	ENST00000374431.3																			1	Substitution - Missense(1)	p.D251N(1)	prostate(1)	breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(1)|ovary(2)|prostate(6)|skin(1)	21						c.(751-753)Gat>Aat		lysophosphatidic acid receptor 1							82	84	83					9																	113703743		2203	4300	6503	SO:0001583	missense	1902				positive regulation of I-kappaB kinase/NF-kappaB cascade	cell surface|integral to plasma membrane		g.chr9:113703743C>T	U80811	CCDS6777.1	9q	2012-08-08	2008-04-11	2008-04-11	ENSG00000198121	ENSG00000198121		"GPCR / Class A : Lysophospholipid receptors : Lysophosphatidic acid"	3166	protein-coding gene	gene with protein product		602282	"endothelial differentiation, lysophosphatidic acid G-protein-coupled receptor, 2"	EDG2		8922387, 9070858	Standard	NM_001401		Approved	edg-2, rec.1.3, vzg-1, Gpcr26, Mrec1.3, LPA1, GPR26	uc004bfc.3	Q92633	OTTHUMG00000020486	ENST00000374431.3:c.751G>A	9.37:g.113703743C>T	ENSP00000363553:p.Asp251Asn					LPAR1_ENST00000358883.4_Missense_Mutation_p.D251N|LPAR1_ENST00000541779.1_Missense_Mutation_p.D252N|LPAR1_ENST00000538760.1_Missense_Mutation_p.D252N|LPAR1_ENST00000374430.2_Missense_Mutation_p.D251N	p.D251N	NM_057159.2	NP_476500.1	Q92633	LPAR1_HUMAN			4	1134	-			251					B4DK36|O00656|O00722|P78351	Missense_Mutation	SNP	ENST00000374431.3	37	c.751G>A	CCDS6777.1	.	.	.	.	.	.	.	.	.	.	C	26.4	4.736071	0.89482	.	.	ENSG00000198121	ENST00000374431;ENST00000541779;ENST00000374430;ENST00000358883;ENST00000449490;ENST00000538760	T;T;T;T;T	0.71817	-0.6;-0.6;-0.6;-0.6;-0.6	5.19	4.3	0.51218	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.63355	0.2504	N	0.04880	-0.145	0.80722	D	1	D;D;D	0.55385	0.971;0.971;0.971	P;P;P	0.56343	0.796;0.796;0.796	T	0.71300	-0.4634	10	0.87932	D	0	.	12.7949	0.57555	0.0:0.9209:0.0:0.0791	.	252;252;251	B4DQ18;B4DK36;Q92633	.;.;LPAR1_HUMAN	N	251;252;251;251;233;252	ENSP00000363553:D251N;ENSP00000445697:D252N;ENSP00000363552:D251N;ENSP00000351755:D251N;ENSP00000440201:D252N	ENSP00000351755:D251N	D	-	1	0	LPAR1	112743564	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.818000	0.86416	1.205000	0.43262	0.563000	0.77884	GAT		0.443	LPAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053631.1	NM_057159		24	98	0	0	0	0.667858	0	24	98					T	113703743	C	T	113703743	3	4	47	1	0	0	0	0	1	0	0	0	8904	855	30	3	351	3	LPAR1	9	113703743	Missense_Mutation	SNP	C	TCGA-EJ-5497-01A-02D-1576-08	73000896	113703743	27509688	20	2556											
UNC5B	219699	broad.mit.edu	37	chr10	73050857	73050857	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	accccgtcaactttaagacgGcaaggcccagtaagaacccg	13	5	9	14	3	1	2	1	0	0	2	1	2	1	2	4	2	2	2	4	2	5	3			TCGA-EJ-5497-01A-02D-1576-08	TCGA-EJ-5497-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	924c20dd-38c1-48a7-83c6-fd1bdffda680	f6c01a65-6505-4d90-a07f-9c7285b4cf58	g.chr10:73050857G>A	ENST00000335350.6	+	9	1701	c.1285G>A	c.(1285-1287)Gca>Aca	p.A429T	UNC5B_ENST00000373192.4_Missense_Mutation_p.A418T	NM_170744.4	NP_734465.2	Q8IZJ1	UNC5B_HUMAN	unc-5 homolog B (C. elegans)	429					anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of apoptotic process (GO:0043065)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)		p.A429T(2)		breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(4)|skin(4)	49						CTTTAAGACGGCAAGGCCCAG	0.597																																						ENST00000335350.6																			2	Substitution - Missense(2)	p.A429T(2)	prostate(2)	breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(4)|skin(4)	49						c.(1285-1287)Gca>Aca		unc-5 homolog B (C. elegans)							165	158	160					10																	73050857		2203	4300	6503	SO:0001583	missense	219699				apoptosis|axon guidance|regulation of apoptosis	integral to membrane		g.chr10:73050857G>A	AB096256	CCDS7309.1, CCDS58083.1	10q22.2	2013-01-11	2001-11-28		ENSG00000107731	ENSG00000107731		"Immunoglobulin superfamily / I-set domain containing"	12568	protein-coding gene	gene with protein product		607870	"unc5 (C.elegans homolog) b"				Standard	NM_170744		Approved	UNC5H2, p53RDL1	uc001jro.3	Q8IZJ1	OTTHUMG00000018422	ENST00000335350.6:c.1285G>A	10.37:g.73050857G>A	ENSP00000334329:p.Ala429Thr					UNC5B_ENST00000373192.4_Missense_Mutation_p.A418T	p.A429T	NM_170744.4	NP_734465.2	Q8IZJ1	UNC5B_HUMAN			9	1701	+			429					Q5T3R9|Q5T3S0|Q86SN3|Q8N1Y2|Q9H9F3	Missense_Mutation	SNP	ENST00000335350.6	37	c.1285G>A	CCDS7309.1	.	.	.	.	.	.	.	.	.	.	G	4.088	0.014355	0.07959	.	.	ENSG00000107731	ENST00000335350;ENST00000373192	T;T	0.51574	0.78;0.7	5.39	2.49	0.30216	.	0.365957	0.31495	N	0.007559	T	0.37758	0.1015	L	0.53249	1.67	0.09310	N	1	B;B	0.10296	0.003;0.002	B;B	0.10450	0.005;0.002	T	0.25152	-1.0140	10	0.31617	T	0.26	-3.4221	6.4845	0.22081	0.1408:0.0:0.4509:0.4083	.	418;429	Q8IZJ1-2;Q8IZJ1	.;UNC5B_HUMAN	T	429;418	ENSP00000334329:A429T;ENSP00000362288:A418T	ENSP00000334329:A429T	A	+	1	0	UNC5B	72720863	0.002000	0.14202	0.001000	0.08648	0.001000	0.01503	1.081000	0.30791	0.253000	0.21552	-0.136000	0.14681	GCA		0.597	UNC5B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048541.1	NM_170744		7	330	0	0	0	0.27861	0	7	330					A	73050857	G	A	73050857	3	1	47	1	0	0	0	0	1	0	0	0	16989	1203	42	3	1319	3	UNC5B	10	73050857	Missense_Mutation	SNP	G	TCGA-EJ-5497-01A-02D-1576-08		73050857	62483890	21	2557											
OR9G4	283189	broad.mit.edu	37	chr11	56511197	56511197	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ctgggaatctgctgagaaacCcaacaagatgaattcagtca	15	8	9	9	0	3	3	2	2	1	2	3	5	3	4	1	1	3	1	1	1	5	1	rs367701319		TCGA-EJ-5497-01A-02D-1576-08	TCGA-EJ-5497-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	924c20dd-38c1-48a7-83c6-fd1bdffda680	f6c01a65-6505-4d90-a07f-9c7285b4cf58	g.chr11:56511197C>T	ENST00000302957.3	-	1	90	c.91G>A	c.(91-93)Ggt>Agt	p.G31S		NM_001005284.1	NP_001005284.1	Q8NGQ1	OR9G4_HUMAN	olfactory receptor, family 9, subfamily G, member 4	31						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.G31S(1)		NS(1)|autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	34						GCTGAGAAACCCAACAAGATG	0.428																																						ENST00000302957.3																			1	Substitution - Missense(1)	p.G31S(1)	prostate(1)	NS(1)|autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	34						c.(91-93)Ggt>Agt		olfactory receptor, family 9, subfamily G, member 4							84	77	79					11																	56511197		2201	4296	6497	SO:0001583	missense	283189				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56511197C>T	BK004400	CCDS31537.1	11q11	2012-08-09			ENSG00000172457	ENSG00000172457		"GPCR / Class A : Olfactory receptors"	15322	protein-coding gene	gene with protein product							Standard	NM_001005284		Approved		uc010rjo.2	Q8NGQ1	OTTHUMG00000166932	ENST00000302957.3:c.91G>A	11.37:g.56511197C>T	ENSP00000307515:p.Gly31Ser						p.G31S	NM_001005284.1	NP_001005284.1	Q8NGQ1	OR9G4_HUMAN			1	90	-			31					Q6IF62|Q96RA9	Missense_Mutation	SNP	ENST00000302957.3	37	c.91G>A	CCDS31537.1	.	.	.	.	.	.	.	.	.	.	C	23.1	4.374988	0.82573	.	.	ENSG00000172457	ENST00000302957	T	0.00653	5.96	4.9	4.9	0.64082	.	0.000000	0.40385	N	0.001118	T	0.03178	0.0093	M	0.91612	3.225	0.46078	D	0.998859	P	0.52577	0.954	P	0.50352	0.638	T	0.15954	-1.0419	10	0.87932	D	0	-13.0418	16.802	0.85617	0.0:1.0:0.0:0.0	.	31	Q8NGQ1	OR9G4_HUMAN	S	31	ENSP00000307515:G31S	ENSP00000307515:G31S	G	-	1	0	OR9G4	56267773	0.985000	0.35326	0.984000	0.44739	0.716000	0.41182	3.940000	0.56599	2.546000	0.85860	0.549000	0.68633	GGT		0.428	OR9G4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391945.1	NM_001005284		4	107	0	0	0	0.150653	0	4	107					T	56511197	C	T	56511197	3	4	47	1	0	0	0	0	1	0	0	0	11251	623	22	3	895	3	OR9G4	11	56511197	Missense_Mutation	SNP	C	TCGA-EJ-5497-01A-02D-1576-08		56511197	78495319	22	2558											
MED17	9440	broad.mit.edu	37	chr11	93529637	93529637	+	Frame_Shift_Del	DEL	T	T	-																															aagaaatcccaaaaatttgcTactgagaagcaatgtccgga																										TCGA-EJ-5497-01A-02D-1576-08	TCGA-EJ-5497-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	924c20dd-38c1-48a7-83c6-fd1bdffda680	f6c01a65-6505-4d90-a07f-9c7285b4cf58	g.chr11:93529637delT	ENST00000251871.3	+	7	1361	c.1074delT	c.(1072-1074)gctfs	p.A358fs	snoU13_ENST00000459243.1_RNA|MED17_ENST00000533367.1_3'UTR	NM_004268.4	NP_004259.3	Q9NVC6	MED17_HUMAN	mediator complex subunit 17	358					androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|receptor activity (GO:0004872)|RNA polymerase II transcription cofactor activity (GO:0001104)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			large_intestine(2)|lung(11)|ovary(1)	14		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				AAAAATTTGCTACTGAGAAGC	0.358																																						ENST00000251871.3																			0				large_intestine(2)|lung(11)|ovary(1)	14						c.(1072-1074)gcfs		mediator complex subunit 17							154	152	153					11																	93529637		2201	4298	6499	SO:0001589	frameshift_variant	9440				androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex|transcription factor complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	g.chr11:93529637delT	AF104254	CCDS8295.1	11q21	2007-07-30	2007-07-30	2007-07-30	ENSG00000042429	ENSG00000042429			2375	protein-coding gene	gene with protein product		603810	"cofactor required for Sp1 transcriptional activation, subunit 6 (77kD)", "cofactor required for Sp1 transcriptional activation, subunit 6, 77kDa"	CRSP6		9989412, 10198638	Standard	NM_004268		Approved	CRSP77, TRAP80, DRIP80	uc001pem.4	Q9NVC6	OTTHUMG00000167497	ENST00000251871.3:c.1074delT	11.37:g.93529637delT	ENSP00000251871:p.Ala358fs					MED17_ENST00000533367.1_3'UTR	p.A358fs	NM_004268.4	NP_004259.3	Q9NVC6	MED17_HUMAN			7	1361	+		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)	358					B3KN07|Q9HA81|Q9UNP7|Q9Y2W0|Q9Y660	Frame_Shift_Del	DEL	ENST00000251871.3	37	c.1074delT	CCDS8295.1																																																																																				0.358	MED17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394800.2	NM_004268		45	214						45	214	---	---	---	---	-	93529637	T	-	93529637	7	5	47	1	0	1	0	1	0	0	0	0	9435	1509	53	0	1100	0	MED17	11	93529637	Frame_Shift_Del	DEL	T	TCGA-EJ-5497-01A-02D-1576-08	37018440	93529637	41476879	23	2559											
NCAPD3	23310	broad.mit.edu	37	chr11	134054637	134054637	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaaatccattcagcttacaCttgacagcatctatgaagga	14	11	7	9	0	2	3	1	3	1	0	3	4	3	4	1	1	3	2	1	1	4	4			TCGA-EJ-5497-01A-02D-1576-08	TCGA-EJ-5497-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	924c20dd-38c1-48a7-83c6-fd1bdffda680	f6c01a65-6505-4d90-a07f-9c7285b4cf58	g.chr11:134054637C>T	ENST00000534548.2	-	19	2410	c.2346G>A	c.(2344-2346)aaG>aaA	p.K782K	RP11-700F16.3_ENST00000531710.1_RNA	NM_015261.2	NP_056076.1	P42695	CNDD3_HUMAN	non-SMC condensin II complex, subunit D3	782					mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	germinal vesicle (GO:0042585)|membrane (GO:0016020)|nuclear condensin complex (GO:0000799)|nuclear pericentric heterochromatin (GO:0031618)|nucleoplasm (GO:0005654)	methylated histone binding (GO:0035064)	p.K782K(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_hematologic(175;0.127)	all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227)		TCAGCTTACACTTGACAGCAT	0.448																																						ENST00000534548.2																			1	Substitution - coding silent(1)	p.K782K(1)	prostate(1)	NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						c.(2344-2346)aaG>aaA		non-SMC condensin II complex, subunit D3							76	73	74					11																	134054637		2201	4297	6498	SO:0001819	synonymous_variant	23310				cell division|mitotic chromosome condensation	nuclear centromeric heterochromatin|nuclear condensin complex	methylated histone residue binding	g.chr11:134054637C>T	AK124878	CCDS31723.1	11q25	2008-02-04			ENSG00000151503	ENSG00000151503			28952	protein-coding gene	gene with protein product		609276				7584044, 8619474, 14532007	Standard	NM_015261		Approved	hCAP-D3, CAP-D3, hHCP-6, KIAA0056, FLJ42888, hcp-6	uc001qhd.1	P42695	OTTHUMG00000167172	ENST00000534548.2:c.2346G>A	11.37:g.134054637C>T						RP11-700F16.3_ENST00000531710.1_RNA	p.K782K	NM_015261.2	NP_056076.1	P42695	CNDD3_HUMAN		Epithelial(10;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227)	19	2410	-	all_hematologic(175;0.127)	all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)	782					A6NFS2|Q4KMQ9	Silent	SNP	ENST00000534548.2	37	c.2346G>A	CCDS31723.1																																																																																				0.448	NCAPD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393575.2	NM_015261		19	96	0	0	0	0.575678	0	19	96					T	134054637	C	T	134054637	2	4	47	1	0	0	0	0	0	0	0	1	10206	564	20	3		3	NCAPD3	11	134054637	Silent	SNP	C	TCGA-EJ-5497-01A-02D-1576-08	40525000	134054637	951879	24	2560											
LMO7	4008	broad.mit.edu	37	chr13	76374992	76374992	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attgacaagctgctcctctgAtatcacgttgagaggggggc	9	10	13	9	1	2	3	1	3	1	1	3	4	3	3	1	3	2	3	1	3	2	3			TCGA-EJ-5497-01A-02D-1576-08	TCGA-EJ-5497-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	924c20dd-38c1-48a7-83c6-fd1bdffda680	f6c01a65-6505-4d90-a07f-9c7285b4cf58	g.chr13:76374992A>G	ENST00000341547.4	+	8	2051	c.791A>G	c.(790-792)gAt>gGt	p.D264G	RP11-29G8.3_ENST00000563635.1_RNA|LMO7_ENST00000357063.3_Missense_Mutation_p.D264G|LMO7_ENST00000377534.3_Missense_Mutation_p.D264G|LMO7_ENST00000321797.8_5'UTR|LMO7_ENST00000465261.2_5'UTR|LMO7_ENST00000526202.1_Missense_Mutation_p.D173G	NM_005358.5	NP_005349.3	Q8WWI1	LMO7_HUMAN	LIM domain 7	264					protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.D264G(2)		NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(20)|lung(15)|ovary(2)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		Breast(118;0.0992)		GBM - Glioblastoma multiforme(99;0.0109)		TGCTCCTCTGATATCACGTTG	0.458																																						ENST00000357063.3																			2	Substitution - Missense(2)	p.D264G(2)	prostate(2)	NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(20)|lung(15)|ovary(2)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	56						c.(790-792)gAt>gGt		LIM domain 7							169	177	174					13																	76374992		2203	4300	6503	SO:0001583	missense	4008					cytoplasm|nucleus|ubiquitin ligase complex	ubiquitin-protein ligase activity|zinc ion binding	g.chr13:76374992A>G	AF092557	CCDS9454.1, CCDS53876.1	13q22.2	2008-02-05	2004-06-15		ENSG00000136153	ENSG00000136153			6646	protein-coding gene	gene with protein product	"F-box only protein 20"	604362	"LIM domain only 7"	FBXO20		9826547, 10531035	Standard	NM_005358		Approved	FBX20, KIAA0858	uc021rkq.1	Q8WWI1	OTTHUMG00000017093	ENST00000341547.4:c.791A>G	13.37:g.76374992A>G	ENSP00000342112:p.Asp264Gly					LMO7_ENST00000377534.3_Missense_Mutation_p.D264G|LMO7_ENST00000465261.2_5'UTR|LMO7_ENST00000321797.8_5'UTR|LMO7_ENST00000341547.4_Missense_Mutation_p.D264G|LMO7_ENST00000526202.1_Missense_Mutation_p.D173G|RP11-29G8.3_ENST00000563635.1_RNA	p.D264G			Q8WWI1	LMO7_HUMAN		GBM - Glioblastoma multiforme(99;0.0109)	8	2051	+		Breast(118;0.0992)	264					E9PLH4|O15462|O95346|Q5TBK6|Q9UKC1|Q9UQM5|Q9Y6A7	Missense_Mutation	SNP	ENST00000341547.4	37	c.791A>G	CCDS9454.1	.	.	.	.	.	.	.	.	.	.	A	26.9	4.786222	0.90282	.	.	ENSG00000136153	ENST00000341547;ENST00000357063;ENST00000377534;ENST00000377499;ENST00000526202	T;T;T;T;T	0.60672	0.82;0.55;0.55;0.32;0.17	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	T	0.72399	0.3455	M	0.77820	2.39	0.58432	D	0.999999	P;P;B	0.43607	0.772;0.812;0.119	B;P;B	0.53722	0.443;0.733;0.036	T	0.76318	-0.3003	10	0.87932	D	0	-21.8743	15.7842	0.78289	1.0:0.0:0.0:0.0	.	173;264;212	E9PMS6;Q8WWI1-3;F8J2B5	.;.;.	G	264;264;264;212;173	ENSP00000342112:D264G;ENSP00000349571:D264G;ENSP00000366757:D264G;ENSP00000366719:D212G;ENSP00000431129:D173G	ENSP00000342112:D264G	D	+	2	0	LMO7	75272993	1.000000	0.71417	0.794000	0.32065	0.878000	0.50629	5.681000	0.68175	2.130000	0.65690	0.482000	0.46254	GAT		0.458	LMO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045297.1	NM_005358		14	328	0	0	0	0.520397	0	14	328					G	76374992	A	G	76374992	3	3	47	1	0	0	0	0	1	0	0	0	8855	333	12	4	821	4	LMO7	13	76374992	Missense_Mutation	SNP	A	TCGA-EJ-5497-01A-02D-1576-08		76374992	38794886	25	2561											
CPNE6	9362	broad.mit.edu	37	chr14	24543288	24543288	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acaaaccaaggtcactaagcCattattgctgaagaatggga	16	8	9	8	0	1	2	1	1	0	1	1	3	1	3	2	2	3	1	2	2	6	3			TCGA-EJ-5497-01A-02D-1576-08	TCGA-EJ-5497-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	924c20dd-38c1-48a7-83c6-fd1bdffda680	f6c01a65-6505-4d90-a07f-9c7285b4cf58	g.chr14:24543288C>T	ENST00000397016.2	+	5	688	c.377C>T	c.(376-378)cCa>cTa	p.P126L	CPNE6_ENST00000537691.1_Missense_Mutation_p.P181L|CPNE6_ENST00000560092.1_3'UTR|CPNE6_ENST00000216775.2_Missense_Mutation_p.P126L	NM_001280558.1	NP_001267487.1	O95741	CPNE6_HUMAN	copine VI (neuronal)	126					lipid metabolic process (GO:0006629)|nervous system development (GO:0007399)|synaptic transmission (GO:0007268)|vesicle-mediated transport (GO:0016192)	axon (GO:0030424)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|phosphatidylserine binding (GO:0001786)|transporter activity (GO:0005215)			endometrium(4)|large_intestine(3)|liver(2)|lung(5)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	22				GBM - Glioblastoma multiforme(265;0.0184)		GTCACTAAGCCATTATTGCTG	0.532																																						ENST00000397016.2																			0				endometrium(4)|large_intestine(3)|liver(2)|lung(5)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	22						c.(376-378)cCa>cTa		copine VI (neuronal)							141	114	123					14																	24543288		2203	4300	6503	SO:0001583	missense	9362				lipid metabolic process|nervous system development|synaptic transmission|vesicle-mediated transport		calcium ion binding|transporter activity	g.chr14:24543288C>T	AB009288	CCDS9607.1, CCDS61413.1	14q11.2	2008-07-09			ENSG00000100884	ENSG00000100884			2319	protein-coding gene	gene with protein product		605688				9645480	Standard	NM_001280558		Approved		uc001wll.3	O95741	OTTHUMG00000028781	ENST00000397016.2:c.377C>T	14.37:g.24543288C>T	ENSP00000380211:p.Pro126Leu					CPNE6_ENST00000560092.1_3'UTR|CPNE6_ENST00000216775.2_Missense_Mutation_p.P126L|CPNE6_ENST00000537691.1_Missense_Mutation_p.P181L	p.P126L			O95741	CPNE6_HUMAN		GBM - Glioblastoma multiforme(265;0.0184)	5	688	+			126					B2RAG6|B7Z1M3|D3DS55|F5GXN1|Q53HA6|Q8WVG1	Missense_Mutation	SNP	ENST00000397016.2	37	c.377C>T	CCDS9607.1	.	.	.	.	.	.	.	.	.	.	C	17.94	3.511982	0.64522	.	.	ENSG00000100884	ENST00000537691;ENST00000397016;ENST00000216775	T;T;T	0.46451	0.87;0.87;0.87	4.59	4.59	0.56863	C2 calcium-dependent membrane targeting (1);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.48286	D	0.000182	T	0.49372	0.1553	M	0.72479	2.2	0.46749	D	0.999182	P;P	0.47762	0.9;0.745	P;B	0.48400	0.576;0.215	T	0.55328	-0.8158	10	0.87932	D	0	-34.7001	10.7406	0.46152	0.0:0.807:0.193:0.0	.	181;126	F5GXN1;O95741	.;CPNE6_HUMAN	L	181;126;126	ENSP00000440077:P181L;ENSP00000380211:P126L;ENSP00000216775:P126L	ENSP00000216775:P126L	P	+	2	0	CPNE6	23613128	1.000000	0.71417	0.968000	0.41197	0.778000	0.44026	4.673000	0.61604	2.394000	0.81467	0.467000	0.42956	CCA		0.532	CPNE6-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071869.5			18	90	0	0	0	0.557998	0	18	90					T	24543288	C	T	24543288	3	4	47	1	0	0	0	0	1	0	0	0	3816	594	21	3	387	3	CPNE6	14	24543288	Missense_Mutation	SNP	C	TCGA-EJ-5497-01A-02D-1576-08		24543288	82806252	26	2562											
SIPA1L1	26037	broad.mit.edu	37	chr14	72054698	72054698	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acactgatgatttctacatgCggcgcttccggtcccaaaat	10	11	8	12	3	1	2	0	2	1	0	3	2	3	2	2	2	2	1	2	2	3	3			TCGA-EJ-5497-01A-02D-1576-08	TCGA-EJ-5497-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	924c20dd-38c1-48a7-83c6-fd1bdffda680	f6c01a65-6505-4d90-a07f-9c7285b4cf58	g.chr14:72054698C>T	ENST00000555818.1	+	2	457	c.109C>T	c.(109-111)Cgg>Tgg	p.R37W	SIPA1L1_ENST00000381232.3_Missense_Mutation_p.R37W|SIPA1L1_ENST00000358550.2_Missense_Mutation_p.R37W	NM_001284247.1|NM_015556.1	NP_001271176.1|NP_056371.1	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like 1	37					actin cytoskeleton reorganization (GO:0031532)|activation of Rap GTPase activity (GO:0032861)|ephrin receptor signaling pathway (GO:0048013)|regulation of axonogenesis (GO:0050770)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of Rap GTPase activity (GO:0032317)|regulation of synaptic plasticity (GO:0048167)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	GTPase activator activity (GO:0005096)	p.R37W(1)		NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		TTTCTACATGCGGCGCTTCCG	0.547																																						ENST00000555818.1																			1	Substitution - Missense(1)	p.R37W(1)	prostate(1)	NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78						c.(109-111)Cgg>Tgg		signal-induced proliferation-associated 1 like 1							87	90	89					14																	72054698		2203	4300	6503	SO:0001583	missense	26037				actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis	cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome	GTPase activator activity	g.chr14:72054698C>T	AB007900	CCDS9807.1, CCDS61490.1, CCDS61491.1	14q24.1	2003-12-11				ENSG00000197555			20284	protein-coding gene	gene with protein product						9858596	Standard	XM_005267514		Approved	KIAA0440, E6TP1	uc001xmr.1	O43166		ENST00000555818.1:c.109C>T	14.37:g.72054698C>T	ENSP00000450832:p.Arg37Trp					SIPA1L1_ENST00000358550.2_Missense_Mutation_p.R37W|SIPA1L1_ENST00000381232.3_Missense_Mutation_p.R37W	p.R37W	NM_015556.1	NP_056371.1	O43166	SI1L1_HUMAN		all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)	2	457	+			37					J3KP19|O95321|Q9UDU4|Q9UNU4	Missense_Mutation	SNP	ENST00000555818.1	37	c.109C>T	CCDS9807.1	.	.	.	.	.	.	.	.	.	.	C	17.34	3.365974	0.61513	.	.	ENSG00000197555	ENST00000381232;ENST00000555818;ENST00000358550	T;T;T	0.79141	-1.24;-1.23;-1.24	5.48	3.49	0.39957	.	0.000000	0.85682	D	0.000000	D	0.83746	0.5321	L	0.55990	1.75	0.80722	D	1	D;D;D	0.89917	1.0;0.978;1.0	D;P;D	0.77557	0.99;0.566;0.99	D	0.84354	0.0534	10	0.54805	T	0.06	-17.4715	12.4248	0.55540	0.5159:0.4841:0.0:0.0	.	37;37;37	A6H8W6;O43166-2;O43166	.;.;SI1L1_HUMAN	W	37	ENSP00000370630:R37W;ENSP00000450832:R37W;ENSP00000351352:R37W	ENSP00000351352:R37W	R	+	1	2	SIPA1L1	71124451	1.000000	0.71417	0.998000	0.56505	0.995000	0.86356	2.803000	0.47924	1.387000	0.46486	0.655000	0.94253	CGG		0.547	SIPA1L1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412806.1	NM_015556		7	190	0	0	0	0.27861	0	7	190					T	72054698	C	T	72054698	3	4	47	1	0	0	0	0	1	0	0	0	14329	759	27	1	111	1	SIPA1L1	14	72054698	Missense_Mutation	SNP	C	TCGA-EJ-5497-01A-02D-1576-08	47511410	72054698	35294842	27	2563											
VPS13C	54832	broad.mit.edu	37	chr15	62146723	62146723	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcaatttttgctgctgtctcGttgactgtgcatcctcaatg	6	17	8	10	1	3	1	2	1	1	0	5	1	4	1	1	0	3	4	1	0	2	3			TCGA-EJ-5497-01A-02D-1576-08	TCGA-EJ-5497-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	924c20dd-38c1-48a7-83c6-fd1bdffda680	f6c01a65-6505-4d90-a07f-9c7285b4cf58	g.chr15:62146723G>A	ENST00000261517.5	-	85	11268	c.11195C>T	c.(11194-11196)aCg>aTg	p.T3732M	RP11-16B9.1_ENST00000559251.1_RNA|VPS13C_ENST00000249837.3_Missense_Mutation_p.T3689M	NM_020821.2	NP_065872.1			vacuolar protein sorting 13 homolog C (S. cerevisiae)									p.T3732M(1)		NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						CTGCTGTCTCGTTGACTGTGC	0.408																																						ENST00000261517.5																			1	Substitution - Missense(1)	p.T3732M(1)	prostate(1)	NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						c.(11194-11196)aCg>aTg		vacuolar protein sorting 13 homolog C (S. cerevisiae)							213	189	197					15																	62146723		2203	4300	6503	SO:0001583	missense	54832				protein localization			g.chr15:62146723G>A	AJ608770	CCDS10180.1, CCDS32257.1, CCDS45272.1, CCDS58367.1	15q21.3	2009-07-09	2006-04-04		ENSG00000129003	ENSG00000129003			23594	protein-coding gene	gene with protein product		608879	"vacuolar protein sorting 13C (yeast)"				Standard	NM_018080		Approved	FLJ20136, FLJ10381, KIAA1421	uc002agz.3	Q709C8	OTTHUMG00000132801	ENST00000261517.5:c.11195C>T	15.37:g.62146723G>A	ENSP00000261517:p.Thr3732Met					VPS13C_ENST00000249837.3_Missense_Mutation_p.T3689M	p.T3732M	NM_020821.2	NP_065872.1	Q709C8	VP13C_HUMAN			85	11268	-			3732						Missense_Mutation	SNP	ENST00000261517.5	37	c.11195C>T	CCDS32257.1	.	.	.	.	.	.	.	.	.	.	G	9.324	1.058772	0.19987	.	.	ENSG00000129003	ENST00000249837;ENST00000261517	T;T	0.44881	0.91;0.91	5.36	-0.816	0.10839	.	0.812146	0.11498	N	0.558019	T	0.24122	0.0584	N	0.19112	0.55	0.09310	N	1	B;B	0.13145	0.004;0.007	B;B	0.10450	0.005;0.003	T	0.18650	-1.0330	10	0.59425	D	0.04	.	5.253	0.15532	0.325:0.3516:0.3234:0.0	.	3689;3732	Q709C8-3;Q709C8	.;VP13C_HUMAN	M	3689;3732	ENSP00000249837:T3689M;ENSP00000261517:T3732M	ENSP00000249837:T3689M	T	-	2	0	VPS13C	59934015	0.002000	0.14202	0.005000	0.12908	0.619000	0.37552	0.030000	0.13688	-0.287000	0.09064	0.650000	0.86243	ACG		0.408	VPS13C-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000415997.1	NM_017684		10	453	0	0	0	0.38729	0	10	453					A	62146723	G	A	62146723	3	1	47	1	0	0	0	0	1	0	0	0	17188	1145	40	1	70	1	VPS13C	15	62146723	Missense_Mutation	SNP	G	TCGA-EJ-5497-01A-02D-1576-08		62146723	40384669	28	2564											
LASS3	204219	broad.mit.edu	37	chr15	101013167	101013167	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacatcgtgtacaatcatcaCgagggtcccactgcgaatat	12	9	8	12	3	2	0	2	0	0	0	4	2	3	0	1	1	2	1	1	1	4	2	rs373080717		TCGA-EJ-5497-01A-02D-1576-08	TCGA-EJ-5497-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	924c20dd-38c1-48a7-83c6-fd1bdffda680	f6c01a65-6505-4d90-a07f-9c7285b4cf58	g.chr15:101013167C>A	ENST00000394113.1	-	11	1390	c.700G>T	c.(700-702)Gtg>Ttg	p.V234L	CERS3_ENST00000284382.4_Missense_Mutation_p.V234L|CERS3_ENST00000538112.2_Missense_Mutation_p.V234L|CERS3_ENST00000560944.1_Intron			Q8IU89	CERS3_HUMAN	ceramide synthase 3	234	TLC. {ECO:0000255|PROSITE- ProRule:PRU00205}.				ceramide biosynthetic process (GO:0046513)|keratinocyte differentiation (GO:0030216)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sphingosine N-acyltransferase activity (GO:0050291)	p.V234L(1)									ACAATCATCACGAGGGTCCCA	0.438																																						ENST00000284382.4																			1	Substitution - Missense(1)	p.V234L(1)	prostate(1)								c.(700-702)Gtg>Ttg		ceramide synthase 3							117	101	106					15																	101013167		2203	4300	6503	SO:0001583	missense	204219					endoplasmic reticulum membrane|integral to membrane|nuclear membrane	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sphingosine N-acyltransferase activity	g.chr15:101013167C>A		CCDS10384.1	15q26.3	2012-11-19	2011-07-08	2011-07-08	ENSG00000154227	ENSG00000154227		"Homeoboxes / CERS class"	23752	protein-coding gene	gene with protein product		615276	"LAG1 longevity assurance homolog 3 (S. cerevisiae)", "LAG1 homolog, ceramide synthase 3"	LASS3			Standard	NM_178842		Approved	MGC27091	uc002bwb.3	Q8IU89	OTTHUMG00000172568	ENST00000394113.1:c.700G>T	15.37:g.101013167C>A	ENSP00000377672:p.Val234Leu					CERS3_ENST00000560944.1_Intron|CERS3_ENST00000538112.2_Missense_Mutation_p.V234L|CERS3_ENST00000394113.1_Missense_Mutation_p.V234L	p.V234L	NM_178842.3	NP_849164.2	Q8IU89	CERS3_HUMAN			10	1123	-			234			TLC.		Q8NE64|Q8NEN6	Missense_Mutation	SNP	ENST00000394113.1	37	c.700G>T	CCDS10384.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.313568	0.81358	.	.	ENSG00000154227	ENST00000284382;ENST00000394113;ENST00000538112	D;D	0.85258	-1.96;-1.96	5.92	5.0	0.66597	TRAM/LAG1/CLN8 homology domain (3);	0.240063	0.42294	D	0.000730	D	0.90800	0.7111	M	0.92507	3.315	0.48511	D	0.999667	P	0.47034	0.889	P	0.47251	0.542	D	0.92636	0.6120	10	0.72032	D	0.01	-9.3785	15.4105	0.74914	0.1406:0.8594:0.0:0.0	.	234	Q8IU89	CERS3_HUMAN	L	234;245;234	ENSP00000284382:V234L;ENSP00000437640:V234L	ENSP00000284382:V234L	V	-	1	0	CERS3	98830690	0.990000	0.36364	0.991000	0.47740	0.928000	0.56348	2.780000	0.47742	1.489000	0.48450	0.655000	0.94253	GTG		0.438	CERS3-002	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000313594.4	NM_178842		18	149	1	0	1.01871e-10	0.575678	1.14345e-10	18	149					A	101013167	C	A	101013167	3	1	47	1	0	0	0	0	1	0	0	0	8640	536	19	5	467	5	LASS3	15	101013167	Missense_Mutation	SNP	C	TCGA-EJ-5497-01A-02D-1576-08	38866444	101013167	1518225	29	2565											
ALDOC	230	broad.mit.edu	37	chr17	26901519	26901519	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggtgtggactcaccttctctGtaacatactgacaacgtttg	9	13	9	10	1	2	1	1	1	1	0	3	2	2	2	1	2	3	2	1	2	3	4			TCGA-EJ-5497-01A-02D-1576-08	TCGA-EJ-5497-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	924c20dd-38c1-48a7-83c6-fd1bdffda680	f6c01a65-6505-4d90-a07f-9c7285b4cf58	g.chr17:26901519G>T	ENST00000226253.4	-	6	1092	c.617C>A	c.(616-618)aCa>aAa	p.T206K	ALDOC_ENST00000395319.3_Intron|PIGS_ENST00000395346.2_5'Flank|PIGS_ENST00000543734.1_5'Flank|RP11-192H23.5_ENST00000585189.1_RNA|PIGS_ENST00000308360.7_5'Flank|ALDOC_ENST00000395321.2_Missense_Mutation_p.T206K	NM_005165.2	NP_005156.1	P09972	ALDOC_HUMAN	aldolase C, fructose-bisphosphate	206					aging (GO:0007568)|apoptotic process (GO:0006915)|carbohydrate metabolic process (GO:0005975)|epithelial cell differentiation (GO:0030855)|fructose 1,6-bisphosphate metabolic process (GO:0030388)|fructose metabolic process (GO:0006000)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|organ regeneration (GO:0031100)|protein heterotetramerization (GO:0051290)|protein homotetramerization (GO:0051289)|response to hypoxia (GO:0001666)|response to organic cyclic compound (GO:0014070)|response to organonitrogen compound (GO:0010243)|small molecule metabolic process (GO:0044281)	axon (GO:0030424)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	cytoskeletal protein binding (GO:0008092)|fructose-bisphosphate aldolase activity (GO:0004332)	p.T206K(1)		breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	11	Lung NSC(42;0.00431)					CACCTTCTCTGTAACATACTG	0.517																																						ENST00000226253.4																			1	Substitution - Missense(1)	p.T206K(1)	prostate(1)	breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	11						c.(616-618)aCa>aAa		aldolase C, fructose-bisphosphate							216	193	200					17																	26901519		2203	4300	6503	SO:0001583	missense	230				fructose 1,6-bisphosphate metabolic process|gluconeogenesis|glycolysis	cytosol	cytoskeletal protein binding|fructose-bisphosphate aldolase activity	g.chr17:26901519G>T	AF054987	CCDS11236.1	17q11.2	2013-09-20			ENSG00000109107	ENSG00000109107	4.1.2.13		418	protein-coding gene	gene with protein product		103870					Standard	XM_005257947		Approved		uc002hbp.3	P09972	OTTHUMG00000132605	ENST00000226253.4:c.617C>A	17.37:g.26901519G>T	ENSP00000226253:p.Thr206Lys					ALDOC_ENST00000395319.3_Intron|ALDOC_ENST00000395321.2_Missense_Mutation_p.T206K	p.T206K	NM_005165.2	NP_005156.1	P09972	ALDOC_HUMAN			6	1092	-	Lung NSC(42;0.00431)		206					B2R5R3|Q3SYL3|Q6FH94|Q6P0L5	Missense_Mutation	SNP	ENST00000226253.4	37	c.617C>A	CCDS11236.1	.	.	.	.	.	.	.	.	.	.	G	26.7	4.766264	0.90020	.	.	ENSG00000109107	ENST00000226253;ENST00000395321	D;D	0.86956	-2.19;-2.19	5.9	5.9	0.94986	Aldolase-type TIM barrel (1);	0.045796	0.85682	D	0.000000	D	0.96175	0.8753	H	0.97131	3.945	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	D	0.96917	0.9671	10	0.87932	D	0	-2.5834	19.8718	0.96853	0.0:0.0:1.0:0.0	.	206	P09972	ALDOC_HUMAN	K	206	ENSP00000226253:T206K;ENSP00000378731:T206K	ENSP00000226253:T206K	T	-	2	0	ALDOC	23925646	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	6.746000	0.74866	2.808000	0.96608	0.650000	0.86243	ACA		0.517	ALDOC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255839.4			12	314	1	0	2.27111e-07	0.411799	2.49822e-07	12	314					T	26901519	G	T	26901519	3	4	47	1	0	0	0	0	1	0	0	0	509	1377	48	5	493	5	ALDOC	17	26901519	Missense_Mutation	SNP	G	TCGA-EJ-5497-01A-02D-1576-08		26901519	54293691	30	2566											
BAHCC1	57597	broad.mit.edu	37	chr17	79409621	79409621	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggccgccgaggcctgtgccGtggcaggggagggcaaggac	7	3	20	11	3	0	0	0	0	0	0	0	3	0	2	4	7	1	2	4	7	1	0			TCGA-EJ-5497-01A-02D-1576-08	TCGA-EJ-5497-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	924c20dd-38c1-48a7-83c6-fd1bdffda680	f6c01a65-6505-4d90-a07f-9c7285b4cf58	g.chr17:79409621G>A	ENST00000307745.7	+	9	1246	c.1246G>A	c.(1246-1248)Gtg>Atg	p.V416M															p.V416M(1)									GGCCTGTGCCGTGGCAGGGGA	0.701																																						ENST00000307745.7																			1	Substitution - Missense(1)	p.V416M(1)	prostate(1)								c.(1246-1248)Gtg>Atg									14	18	17					17																	79409621		1968	4101	6069	SO:0001583	missense	0							g.chr17:79409621G>A																												ENST00000307745.7:c.1246G>A	17.37:g.79409621G>A	ENSP00000303486:p.Val416Met						p.V416M							9	1246	+									Missense_Mutation	SNP	ENST00000307745.7	37	c.1246G>A		.	.	.	.	.	.	.	.	.	.	g	4.900	0.167259	0.09339	.	.	ENSG00000171282	ENST00000307745	T	0.15256	2.44	3.15	-0.0726	0.13739	.	.	.	.	.	T	0.11196	0.0273	L	0.27053	0.805	0.20975	N	0.999811	B	0.16802	0.019	B	0.11329	0.006	T	0.29274	-1.0017	9	0.49607	T	0.09	.	7.4244	0.27090	0.3269:0.0:0.6731:0.0	.	416	Q9P281	BAHC1_HUMAN	M	416	ENSP00000303486:V416M	ENSP00000303486:V416M	V	+	1	0	AC110285.1	77024216	0.000000	0.05858	0.571000	0.28486	0.006000	0.05464	0.035000	0.13797	0.051000	0.15978	-0.760000	0.03462	GTG		0.701	RP11-1055B8.7-201	KNOWN	basic|appris_principal	protein_coding	protein_coding				6	11	0	0	0	0.335167	0	6	11					A	79409621	G	A	79409621	3	1	47	1	0	0	0	0	1	0	0	0	1296	1145	40	1	1095	1	BAHCC1	17	79409621	Missense_Mutation	SNP	G	TCGA-EJ-5497-01A-02D-1576-08	52508102	79409621	1785589	31	2567											
NEDD4L	23327	broad.mit.edu	37	chr18	55992284	55992286	+	In_Frame_Del	DEL	TCC	TCC	-																															tctcagcaccaagaggaactTcctcctcctcctctgcctcc																										TCGA-EJ-5497-01A-02D-1576-08	TCGA-EJ-5497-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	924c20dd-38c1-48a7-83c6-fd1bdffda680	f6c01a65-6505-4d90-a07f-9c7285b4cf58	g.chr18:55992284_55992286delTCC	ENST00000400345.3	+	9	853_855	c.570_572delTCC	c.(568-573)cttcct>ctt	p.P194del	NEDD4L_ENST00000435432.2_In_Frame_Del_p.P73del|NEDD4L_ENST00000589054.1_Intron|NEDD4L_ENST00000382850.4_In_Frame_Del_p.P194del|NEDD4L_ENST00000456986.1_In_Frame_Del_p.P73del|NEDD4L_ENST00000357895.5_In_Frame_Del_p.P186del|NEDD4L_ENST00000356462.6_In_Frame_Del_p.P194del|NEDD4L_ENST00000586263.1_In_Frame_Del_p.P186del|NEDD4L_ENST00000431212.2_In_Frame_Del_p.P73del|NEDD4L_ENST00000456173.2_In_Frame_Del_p.P73del|NEDD4L_ENST00000256830.9_In_Frame_Del_p.P194del|NEDD4L_ENST00000256832.7_In_Frame_Del_p.P73del	NM_001144967.2	NP_001138439.1	Q96PU5	NED4L_HUMAN	neural precursor cell expressed, developmentally down-regulated 4-like, E3 ubiquitin protein ligase	194	WW 1. {ECO:0000255|PROSITE- ProRule:PRU00224}.				cellular sodium ion homeostasis (GO:0006883)|excretion (GO:0007588)|gene expression (GO:0010467)|ion transmembrane transport (GO:0034220)|negative regulation of potassium ion transmembrane transport (GO:1901380)|negative regulation of potassium ion transmembrane transporter activity (GO:1901017)|negative regulation of protein localization to cell surface (GO:2000009)|negative regulation of sodium ion transmembrane transport (GO:1902306)|negative regulation of sodium ion transmembrane transporter activity (GO:2000650)|negative regulation of systemic arterial blood pressure (GO:0003085)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|positive regulation of cation channel activity (GO:2001259)|positive regulation of caveolin-mediated endocytosis (GO:2001288)|positive regulation of endocytosis (GO:0045807)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of sodium ion transport (GO:0010765)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K48-linked ubiquitination (GO:0070936)|protein monoubiquitination (GO:0006513)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of ion transmembrane transport (GO:0034765)|regulation of membrane depolarization (GO:0003254)|regulation of membrane potential (GO:0042391)|regulation of membrane repolarization (GO:0060306)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|regulation of protein catabolic process (GO:0042176)|regulation of tight junction assembly (GO:2000810)|response to metal ion (GO:0010038)|response to salt stress (GO:0009651)|sodium ion transport (GO:0006814)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|transmembrane transport (GO:0055085)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)|ventricular cardiac muscle cell action potential (GO:0086005)|viral life cycle (GO:0019058)|viral process (GO:0016032)|water homeostasis (GO:0030104)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ion channel binding (GO:0044325)|ligase activity (GO:0016874)|potassium channel inhibitor activity (GO:0019870)|potassium channel regulator activity (GO:0015459)|sodium channel inhibitor activity (GO:0019871)|sodium channel regulator activity (GO:0017080)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(7)|kidney(3)|large_intestine(10)|lung(11)|ovary(1)|prostate(4)	37						AAGAGGAACTTCCTCCTCCTCCT	0.498																																						ENST00000456986.1																			0				breast(1)|endometrium(7)|kidney(3)|large_intestine(10)|lung(11)|ovary(1)|prostate(4)	37						c.(205-210)ctt>ct		neural precursor cell expressed, developmentally down-regulated 4-like, E3 ubiquitin protein ligase																																				SO:0001651	inframe_deletion	0				cellular sodium ion homeostasis|excretion|interspecies interaction between organisms|positive regulation of endocytosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of protein catabolic process|response to metal ion|sodium ion transport|water homeostasis	cytoplasm	protein binding|sodium channel regulator activity|ubiquitin-protein ligase activity	g.chr18:55992284_55992286delTCC	AF210730	CCDS45872.1, CCDS45873.1, CCDS45874.1, CCDS45875.1, CCDS45876.1, CCDS58632.1, CCDS59323.1	18q21.31	2014-08-12	2012-02-23		ENSG00000049759				7728	protein-coding gene	gene with protein product		606384	"neural precursor cell expressed, developmentally down-regulated 4-like"			10594025, 11244092, 18322022	Standard	NM_001144965		Approved	KIAA0439, RSP5, NEDD4-2	uc002lgy.3	Q96PU5	OTTHUMG00000179875	ENST00000400345.3:c.570_572delTCC	18.37:g.55992293_55992295delTCC	ENSP00000383199:p.Pro194del					NEDD4L_ENST00000256832.7_In_Frame_Del_p.LP69del|NEDD4L_ENST00000456173.2_In_Frame_Del_p.LP69del|NEDD4L_ENST00000586263.1_In_Frame_Del_p.LP182del|NEDD4L_ENST00000256830.9_In_Frame_Del_p.LP190del|NEDD4L_ENST00000431212.2_In_Frame_Del_p.LP69del|NEDD4L_ENST00000382850.4_In_Frame_Del_p.LP190del|NEDD4L_ENST00000400345.3_In_Frame_Del_p.LP190del|NEDD4L_ENST00000435432.2_In_Frame_Del_p.LP69del|NEDD4L_ENST00000356462.6_In_Frame_Del_p.LP190del|NEDD4L_ENST00000589054.1_Intron|NEDD4L_ENST00000357895.5_In_Frame_Del_p.LP182del	p.LP69del	NM_001144964.1	NP_001138436.1	Q96PU5	NED4L_HUMAN			9	807_809	+			190			C2.		O43165|Q3LSM7|Q7Z5F1|Q7Z5F2|Q7Z5N3|Q8N5A7|Q8WUU9|Q9BW58|Q9H2W4|Q9NT88	In_Frame_Del	DEL	ENST00000400345.3	37	c.207_209delTCC	CCDS45872.1																																																																																				0.498	NEDD4L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000448749.1			8	327						8	327	---	---	---	---	-	55992286	TCC	-	55992284	7	5	47	1	0	1	0	1	0	0	0	0	10311	1770	62	0	632	0	NEDD4L	18	55992284	In_Frame_Del	DEL	TCC	TCGA-EJ-5497-01A-02D-1576-08		55992284	22084964	32	2568											
ZNF333	84449	broad.mit.edu	37	chr19	14829747	14829747	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggggagaaactgtatgagtgCgcgacttgcggtcaggtctt	8	10	16	7	3	2	2	1	1	1	1	2	4	2	2	0	4	3	1	0	4	2	3	rs200988086	byFrequency	TCGA-EJ-5497-01A-02D-1576-08	TCGA-EJ-5497-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	924c20dd-38c1-48a7-83c6-fd1bdffda680	f6c01a65-6505-4d90-a07f-9c7285b4cf58	g.chr19:14829747C>T	ENST00000292530.6	+	12	1699	c.1608C>T	c.(1606-1608)tgC>tgT	p.C536C	ZNF333_ENST00000536363.1_Silent_p.C427C|ZNF333_ENST00000540689.2_Intron	NM_032433.2	NP_115809.1	Q96JL9	ZN333_HUMAN	zinc finger protein 333	536					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.C536C(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|pancreas(1)|prostate(1)	21						TGTATGAGTGCGCGACTTGCG	0.527													C|||	2	0.000399361	0	0	5008	,	,		22237	0		0.002	False		,,,				2504	0				NSCLC(60;75 1281 16985 25154 29885)	ENST00000292530.6																			1	Substitution - coding silent(1)	p.C536C(1)	prostate(1)	central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|pancreas(1)|prostate(1)	21						c.(1606-1608)tgC>tgT		zinc finger protein 333							102	82	88					19																	14829747		2203	4300	6503	SO:0001819	synonymous_variant	84449				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:14829747C>T		CCDS12316.1, CCDS74298.1	19p13	2013-01-08				ENSG00000160961		"Zinc fingers, C2H2-type", "-"	15624	protein-coding gene	gene with protein product		611811				12151103	Standard	XM_005260098		Approved	KIAA1806	uc002mzn.3	Q96JL9		ENST00000292530.6:c.1608C>T	19.37:g.14829747C>T						ZNF333_ENST00000540689.2_Intron|ZNF333_ENST00000536363.1_Silent_p.C427C	p.C536C	NM_032433.2	NP_115809.1	Q96JL9	ZN333_HUMAN			12	1699	+			536					Q6P2E6|Q86WS6|Q8TDL0	Silent	SNP	ENST00000292530.6	37	c.1608C>T	CCDS12316.1																																																																																				0.527	ZNF333-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466496.1	NM_032433		13	76	0	0	0	0.411799	0	13	76					T	14829747	C	T	14829747	2	4	47	1	0	0	0	0	0	0	0	1	17847	776	27	1		1	ZNF333	19	14829747	Silent	SNP	C	TCGA-EJ-5497-01A-02D-1576-08		14829747	44299236	33	2569											
ZNF181	339318	broad.mit.edu	37	chr19	35232875	35232875	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gaaagcttttagcaaaggctCaaatcttactgcccatcaaa	15	10	6	10	0	3	0	2	0	1	0	3	1	3	0	1	1	4	3	1	1	6	3			TCGA-EJ-5497-01A-02D-1576-08	TCGA-EJ-5497-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	924c20dd-38c1-48a7-83c6-fd1bdffda680	f6c01a65-6505-4d90-a07f-9c7285b4cf58	g.chr19:35232875C>G	ENST00000492450.1	+	4	1678	c.1589C>G	c.(1588-1590)tCa>tGa	p.S530*	ZNF181_ENST00000392232.3_Nonsense_Mutation_p.S574*|ZNF181_ENST00000459757.2_Nonsense_Mutation_p.S529*			Q2M3W8	ZN181_HUMAN	zinc finger protein 181	530					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.S466*(1)		endometrium(6)|kidney(2)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|skin(1)	22	all_lung(56;1.13e-07)|Lung NSC(56;1.81e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.138)			AGCAAAGGCTCAAATCTTACT	0.388																																						ENST00000392232.3																			1	Substitution - Nonsense(1)	p.S466*(1)	prostate(1)	endometrium(6)|kidney(2)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|skin(1)	22						c.(1720-1722)tCa>tGa		zinc finger protein 181							62	71	68					19																	35232875		2202	4299	6501	SO:0001587	stop_gained	339318				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:35232875C>G	BC104759, H54888	CCDS32990.2, CCDS46043.1	19q13.13	2013-01-08	2006-04-27		ENSG00000197841	ENSG00000197841		"Zinc fingers, C2H2-type", "-"	12971	protein-coding gene	gene with protein product		606741	"zinc finger protein 181 (HHZ181)"				Standard	NM_001029997		Approved	HHZ181, MGC44316	uc002nvu.3	Q2M3W8	OTTHUMG00000157508	ENST00000492450.1:c.1589C>G	19.37:g.35232875C>G	ENSP00000420727:p.Ser530*					ZNF181_ENST00000492450.1_Nonsense_Mutation_p.S530*|ZNF181_ENST00000459757.1_Nonsense_Mutation_p.S529*	p.S574*			Q2M3W8	ZN181_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.138)		6	1889	+	all_lung(56;1.13e-07)|Lung NSC(56;1.81e-07)|Esophageal squamous(110;0.162)		530					B7ZKX3|Q49A75	Nonsense_Mutation	SNP	ENST00000492450.1	37	c.1721C>G	CCDS32990.2	.	.	.	.	.	.	.	.	.	.	C	25.6	4.654444	0.88056	.	.	ENSG00000197841	ENST00000392232;ENST00000492450;ENST00000459757	.	.	.	2.4	2.4	0.29515	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.49607	T	0.09	.	7.2033	0.25893	0.0:0.7204:0.2796:0.0	.	.	.	.	X	574;530;529	.	ENSP00000376065:S574X	S	+	2	0	ZNF181	39924715	0.000000	0.05858	0.998000	0.56505	0.954000	0.61252	-0.110000	0.10824	1.659000	0.50751	0.655000	0.94253	TCA		0.388	ZNF181-002	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000349005.3	NM_001029997		5	201	0	0	0	0.217242	0	5	201					G	35232875	C	G	35232875	4	3	47	1	0	0	0	0	0	1	0	0	17746	838	29	5	1603	5	ZNF181	19	35232875	Nonsense_Mutation	SNP	C	TCGA-EJ-5497-01A-02D-1576-08	20403128	35232875	23896108	34	2570											
PRODH2	58510	broad.mit.edu	37	chr19	36297714	36297714	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcatccaccaggagccgcaCgtgctgggcccgggcatact	7	5	13	16	4	0	0	0	0	0	0	1	1	1	1	4	3	3	4	4	3	1	1			TCGA-EJ-5497-01A-02D-1576-08	TCGA-EJ-5497-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	924c20dd-38c1-48a7-83c6-fd1bdffda680	f6c01a65-6505-4d90-a07f-9c7285b4cf58	g.chr19:36297714C>T	ENST00000301175.3	-	7	942	c.925G>A	c.(925-927)Gtg>Atg	p.V309M		NM_021232.1	NP_067055.1	Q9UF12	PROD2_HUMAN	proline dehydrogenase (oxidase) 2	309					proline catabolic process to glutamate (GO:0010133)	mitochondrial inner membrane (GO:0005743)	proline dehydrogenase activity (GO:0004657)	p.V309M(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21	all_lung(56;2.87e-07)|Lung NSC(56;4.32e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			AGGAGCCGCACGTGCTGGGCC	0.682																																						ENST00000301175.3																			1	Substitution - Missense(1)	p.V309M(1)	prostate(1)	haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21						c.(925-927)Gtg>Atg		proline dehydrogenase (oxidase) 2							19	19	19					19																	36297714		2201	4295	6496	SO:0001583	missense	58510				glutamate biosynthetic process|proline catabolic process		proline dehydrogenase activity	g.chr19:36297714C>T	U80018	CCDS12478.1	19q13.1	2014-07-11				ENSG00000250799			17325	protein-coding gene	gene with protein product							Standard	NM_021232		Approved	HSPOX1	uc002obx.1	Q9UF12		ENST00000301175.3:c.925G>A	19.37:g.36297714C>T	ENSP00000301175:p.Val309Met						p.V309M	NM_021232.1	NP_067055.1	Q9UF12	PROD2_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0515)		7	942	-	all_lung(56;2.87e-07)|Lung NSC(56;4.32e-07)|Esophageal squamous(110;0.162)		309						Missense_Mutation	SNP	ENST00000301175.3	37	c.925G>A	CCDS12478.1	.	.	.	.	.	.	.	.	.	.	C	27.9	4.874410	0.91664	.	.	ENSG00000250799	ENST00000301175	T	0.39056	1.1	4.94	4.94	0.65067	Proline dehydrogenase (1);	.	.	.	.	T	0.68796	0.3040	M	0.87180	2.865	0.80722	D	1	D	0.89917	1.0	D	0.77004	0.989	T	0.74791	-0.3545	9	0.72032	D	0.01	.	15.7097	0.77615	0.0:1.0:0.0:0.0	.	309	Q9UF12	PROD2_HUMAN	M	309	ENSP00000301175:V309M	ENSP00000301175:V309M	V	-	1	0	PRODH2	40989554	1.000000	0.71417	0.201000	0.23476	0.440000	0.31957	5.499000	0.66937	2.574000	0.86865	0.591000	0.81541	GTG		0.682	PRODH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452552.2	NM_021232		4	17	0	0	0	0.150653	0	4	17					T	36297714	C	T	36297714	3	4	47	1	0	0	0	0	1	0	0	0	12549	536	19	1	705	1	PRODH2	19	36297714	Missense_Mutation	SNP	C	TCGA-EJ-5497-01A-02D-1576-08	1064839	36297714	22831269	35	2571											
NINL	22981	broad.mit.edu	37	chr20	25436392	25436392	+	Frame_Shift_Del	DEL	C	C	-																															cgcctcttccacccgctcttCtgtggctttcagctgtttct																										TCGA-EJ-5497-01A-02D-1576-08	TCGA-EJ-5497-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	924c20dd-38c1-48a7-83c6-fd1bdffda680	f6c01a65-6505-4d90-a07f-9c7285b4cf58	g.chr20:25436392delC	ENST00000278886.6	-	23	3947	c.3874delG	c.(3874-3876)gaafs	p.E1293fs	NINL_ENST00000464285.1_5'UTR|NINL_ENST00000422516.1_Frame_Shift_Del_p.E944fs	NM_025176.4	NP_079452.3	Q9Y2I6	NINL_HUMAN	ninein-like	1293					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	cytosol (GO:0005829)|microtubule (GO:0005874)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(13)|lung(25)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	57						ACCCGCTCTTCTGTGGCTTTC	0.527																																						ENST00000278886.6																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(13)|lung(25)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	57						c.(3874-3876)aafs		ninein-like							222	231	228					20																	25436392		2203	4300	6503	SO:0001589	frameshift_variant	22981				G2/M transition of mitotic cell cycle	cytosol|microtubule|microtubule organizing center	calcium ion binding	g.chr20:25436392delC		CCDS33452.1	20p11.22-p11.1	2013-01-10			ENSG00000101004	ENSG00000101004		"EF-hand domain containing"	29163	protein-coding gene	gene with protein product	"ninein-like protein"	609580				10231032	Standard	XM_005260678		Approved	KIAA0980, NLP	uc002wux.1	Q9Y2I6	OTTHUMG00000032127	ENST00000278886.6:c.3874delG	20.37:g.25436392delC	ENSP00000278886:p.Glu1293fs					NINL_ENST00000422516.1_Frame_Shift_Del_p.E944fs|NINL_ENST00000464285.1_5'UTR	p.E1293fs	NM_025176.4	NP_079452.3	Q9Y2I6	NINL_HUMAN			23	3947	-			1293					A6NJN0|B3V9H6|B7Z1V8|Q5JYP0|Q8NE38|Q9NQE3	Frame_Shift_Del	DEL	ENST00000278886.6	37	c.3874delG	CCDS33452.1																																																																																				0.527	NINL-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078445.3	NM_025176		11	428						11	428	---	---	---	---	-	25436392	C	-	25436392	7	5	47	1	0	1	0	1	0	0	0	0	10420	922	32	0	282	0	NINL	20	25436392	Frame_Shift_Del	DEL	C	TCGA-EJ-5497-01A-02D-1576-08		25436392	37589128	36	2572											
ASXL1	171023	broad.mit.edu	37	chr20	31021261	31021261	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagatctccgaaccagagcCagaaggaatctgtacaaaaa	17	5	8	11	1	2	3	0	0	2	3	3	5	2	4	4	1	3	1	4	1	6	1			TCGA-EJ-5497-01A-02D-1576-08	TCGA-EJ-5497-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	924c20dd-38c1-48a7-83c6-fd1bdffda680	f6c01a65-6505-4d90-a07f-9c7285b4cf58	g.chr20:31021261C>T	ENST00000375687.4	+	12	1684	c.1260C>T	c.(1258-1260)gcC>gcT	p.A420A	ASXL1_ENST00000306058.5_Silent_p.A415A	NM_015338.5	NP_056153	Q8IXJ9	ASXL1_HUMAN	additional sex combs like transcriptional regulator 1	420	Interaction with NCOA1. {ECO:0000250}.				bone development (GO:0060348)|monoubiquitinated histone H2A deubiquitination (GO:0035522)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035359)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of retinoic acid receptor signaling pathway (GO:0048386)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to retinoic acid (GO:0032526)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nuclear chromatin (GO:0000790)|PR-DUB complex (GO:0035517)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|peroxisome proliferator activated receptor binding (GO:0042975)|retinoic acid receptor binding (GO:0042974)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)	p.A420A(1)		NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(655)|kidney(5)|large_intestine(18)|liver(1)|lung(27)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	722						GAACCAGAGCCAGAAGGAATC	0.527			"F, N, Mis"		"MDS, CMML"																																	ENST00000375687.4				Rec	yes		20	20q11.1	171023	"F, N, Mis"	additional sex combs like 1			L			"MDS, CMML"		1	Substitution - coding silent(1)	p.A420A(1)	prostate(1)	NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(655)|kidney(5)|large_intestine(18)|liver(1)|lung(27)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	722						c.(1258-1260)gcC>gcT		additional sex combs like 1 (Drosophila)							87	88	88					20																	31021261		2203	4300	6503	SO:0001819	synonymous_variant	171023				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	PR-DUB complex	metal ion binding|protein binding	g.chr20:31021261C>T	AJ438952	CCDS13201.1	20q11	2014-09-17	2014-06-17		ENSG00000171456	ENSG00000171456			18318	protein-coding gene	gene with protein product		612990	"additional sex combs like 1 (Drosophila)"			12657473	Standard	NM_015338		Approved	KIAA0978	uc002wxs.3	Q8IXJ9	OTTHUMG00000032218	ENST00000375687.4:c.1260C>T	20.37:g.31021261C>T						ASXL1_ENST00000306058.5_Silent_p.A415A	p.A420A	NM_015338.5	NP_056153.2	Q8IXJ9	ASXL1_HUMAN			12	1684	+			420					B2RP59|Q5JWS9|Q8IYY7|Q9H466|Q9NQF8|Q9UFJ0|Q9UFP8|Q9Y2I4	Silent	SNP	ENST00000375687.4	37	c.1260C>T	CCDS13201.1																																																																																				0.527	ASXL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078624.2	NM_015338		5	169	0	0	0	0.184627	0	5	169					T	31021261	C	T	31021261	2	4	47	1	0	0	0	0	0	0	0	1	1066	581	21	3		3	ASXL1	20	31021261	Silent	SNP	C	TCGA-EJ-5497-01A-02D-1576-08	5584869	31021261	32004259	37	2573											
PHF20	51230	broad.mit.edu	37	chr20	34458923	34458923	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gaaaacactgacaaagacttAtcgaggagacgttcctccag	15	7	9	10	2	0	3	0	1	0	2	3	6	2	3	2	1	1	1	2	1	4	2			TCGA-EJ-5497-01A-02D-1576-08	TCGA-EJ-5497-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	924c20dd-38c1-48a7-83c6-fd1bdffda680	f6c01a65-6505-4d90-a07f-9c7285b4cf58	g.chr20:34458923A>G	ENST00000374012.3	+	8	1098	c.969A>G	c.(967-969)ttA>ttG	p.L323L	PHF20_ENST00000439301.1_3'UTR|PHF20_ENST00000481202.1_3'UTR			Q9BVI0	PHF20_HUMAN	PHD finger protein 20	323					chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|MLL1 complex (GO:0071339)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.L323L(1)		breast(5)|endometrium(1)|kidney(7)|large_intestine(6)|lung(11)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39	Breast(12;0.00631)|all_lung(11;0.0145)					ACAAAGACTTATCGAGGAGAC	0.423																																						ENST00000374012.3																			1	Substitution - coding silent(1)	p.L323L(1)	prostate(1)	breast(5)|endometrium(1)|kidney(7)|large_intestine(6)|lung(11)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						c.(967-969)ttA>ttG		PHD finger protein 20							123	113	116					20																	34458923		2203	4300	6503	SO:0001819	synonymous_variant	51230				regulation of transcription, DNA-dependent|transcription, DNA-dependent	MLL1 complex	DNA binding|zinc ion binding	g.chr20:34458923A>G	AL109965	CCDS13268.1	20q11.22-q11.23	2013-01-28	2004-12-01	2004-12-01	ENSG00000025293	ENSG00000025293		"Tudor domain containing", "Zinc fingers, PHD-type"	16098	protein-coding gene	gene with protein product	"tudor domain containing 20A"	610335	"chromosome 20 open reading frame 104"	C20orf104			Standard	NM_016436		Approved	dJ1121G12.1, TDRD20A	uc002xek.1	Q9BVI0	OTTHUMG00000032367	ENST00000374012.3:c.969A>G	20.37:g.34458923A>G						PHF20_ENST00000481202.1_3'UTR|PHF20_ENST00000439301.1_3'UTR	p.L323L			Q9BVI0	PHF20_HUMAN			8	1098	+	Breast(12;0.00631)|all_lung(11;0.0145)		323					A7E235|B2RB56|E1P5S3|Q566Q2|Q5JWY9|Q66K49|Q9BWV4|Q9BXA3|Q9BZW3|Q9H421|Q9H4J6|Q9NZ22	Silent	SNP	ENST00000374012.3	37	c.969A>G	CCDS13268.1																																																																																				0.423	PHF20-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078949.2	NM_016436		7	149	0	0	0	0.248553	0	7	149					G	34458923	A	G	34458923	2	3	47	1	0	0	0	0	0	0	0	1	11831	446	16	4		4	PHF20	20	34458923	Silent	SNP	A	TCGA-EJ-5497-01A-02D-1576-08	3437662	34458923	28566597	38	2574											
EYA2	2139	broad.mit.edu	37	chr20	45797830	45797830	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgacgtctcatcagatgacaAtggccaagatttaaggtggg	12	10	12	7	1	2	4	2	2	1	2	3	4	2	4	1	3	0	0	1	3	3	2	rs143610627		TCGA-EJ-5497-01A-02D-1576-08	TCGA-EJ-5497-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	924c20dd-38c1-48a7-83c6-fd1bdffda680	f6c01a65-6505-4d90-a07f-9c7285b4cf58	g.chr20:45797830A>C	ENST00000327619.5	+	11	1396	c.1022A>C	c.(1021-1023)aAt>aCt	p.N341T	EYA2_ENST00000317304.6_Missense_Mutation_p.N311T|EYA2_ENST00000357410.3_Missense_Mutation_p.N341T|MIR3616_ENST00000584070.1_RNA	NM_005244.4	NP_005235.3	O00167	EYA2_HUMAN	EYA transcriptional coactivator and phosphatase 2	341					DNA repair (GO:0006281)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|histone dephosphorylation (GO:0016576)|mesodermal cell fate specification (GO:0007501)|mitochondrial outer membrane permeabilization (GO:0097345)|peptidyl-tyrosine dephosphorylation (GO:0035335)|regulation of transcription, DNA-templated (GO:0006355)|striated muscle tissue development (GO:0014706)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	magnesium ion binding (GO:0000287)|protein tyrosine phosphatase activity (GO:0004725)	p.N341T(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0241)				TCAGATGACAATGGCCAAGAT	0.428																																					Pancreas(120;56 1725 18501 25218 43520)	ENST00000327619.5																			1	Substitution - Missense(1)	p.N341T(1)	prostate(1)	NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32						c.(1021-1023)aAt>aCt		eyes absent homolog 2 (Drosophila)							166	157	160					20																	45797830		2203	4300	6503	SO:0001583	missense	2139				DNA repair|histone dephosphorylation|mesodermal cell fate specification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	magnesium ion binding|protein binding|protein tyrosine phosphatase activity	g.chr20:45797830A>C		CCDS13403.1, CCDS54471.1	20q13.1	2014-06-19	2014-06-19		ENSG00000064655	ENSG00000064655		"Protein tyrosine phosphatases / Asp-based PTPs"	3520	protein-coding gene	gene with protein product		601654	"eyes absent (Drosophila) homolog 2", "eyes absent homolog 2 (Drosophila)"			9020840	Standard	NM_005244		Approved	EAB1	uc002xsm.3	O00167	OTTHUMG00000033041	ENST00000327619.5:c.1022A>C	20.37:g.45797830A>C	ENSP00000333640:p.Asn341Thr					EYA2_ENST00000317304.6_Missense_Mutation_p.N311T|EYA2_ENST00000357410.3_Missense_Mutation_p.N341T	p.N341T	NM_005244.4	NP_005235.3	O00167	EYA2_HUMAN			11	1396	+		Myeloproliferative disorder(115;0.0241)	341					Q5JSW8|Q86U84|Q96CV6|Q96H97|Q99503|Q99812|Q9BWF6|Q9H4S3|Q9H4S9|Q9NPZ4|Q9UIX7	Missense_Mutation	SNP	ENST00000327619.5	37	c.1022A>C	CCDS13403.1	.	.	.	.	.	.	.	.	.	.	A	22.0	4.236929	0.79800	.	.	ENSG00000064655	ENST00000327619;ENST00000357410;ENST00000484200;ENST00000317304	D;D;D	0.91996	-1.62;-1.62;-2.95	5.29	5.29	0.74685	EYA (1);Haloacid dehalogenase-like hydrolase (1);	0.000000	0.85682	D	0.000000	D	0.95335	0.8486	M	0.65975	2.015	0.80722	D	1	D;D;D;D	0.76494	0.993;0.999;0.997;0.993	D;D;D;D	0.85130	0.957;0.997;0.985;0.979	D	0.95837	0.8863	10	0.87932	D	0	-7.9949	15.2302	0.73381	1.0:0.0:0.0:0.0	.	341;311;341;341	O00167-3;E7ETN2;A8KAG7;O00167	.;.;.;EYA2_HUMAN	T	341;341;311;311	ENSP00000333640:N341T;ENSP00000349986:N341T;ENSP00000321590:N311T	ENSP00000321590:N311T	N	+	2	0	EYA2	45231237	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	9.335000	0.96500	1.982000	0.57802	0.528000	0.53228	AAT		0.428	EYA2-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080326.2	NM_005244		43	196	0	0	0	0.870114	0	43	196					C	45797830	A	C	45797830	3	2	47	1	0	0	0	0	1	0	0	0	5329	101	4	5	1060	5	EYA2	20	45797830	Missense_Mutation	SNP	A	TCGA-EJ-5497-01A-02D-1576-08	11338907	45797830	17227690	39	2575											
GAGE2A	729408	broad.mit.edu	37	chrX	49208295	49208296	+	In_Frame_Ins	INS	-	-	TAT																															gttggcgaggaagatcgaccINStatcggcctagaccaagacg																								rs372553636		TCGA-EJ-5497-01A-02D-1576-08	TCGA-EJ-5497-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	924c20dd-38c1-48a7-83c6-fd1bdffda680	f6c01a65-6505-4d90-a07f-9c7285b4cf58	g.chrX:49208295_49208296insTAT	ENST00000404720.2	+	2	96_97	c.24_25insTAT	c.(25-27)tat>TATtat	p.9_9Y>YY		NM_001098407.1|NM_012196.1	NP_001091877.1|NP_036328.1	Q9UEU5	GGE2D_HUMAN	G antigen 2D	9					cellular defense response (GO:0006968)												GAAGATCGACCTATCGGCCTAG	0.465														477	0.126358	0.031	0.098	3775	,	,		26951	0.0972		0.1441	False		,,,				2504	0.1278					ENST00000404720.2																			0											c.(22-27)acatcg>acTATatcg		G antigen 2D				10,505,1500		1,1,3,4,46,330,82,490,187						-1.1	0			8	27,1244,2482		1,3,16,6,128,539,446,675,577	no	codingComplex	GAGE2D	NM_001098407.1		2,4,19,10,174,869,528,1165,764	A1A1,A1A2,A1R,A1,A2A2,A2R,A2,RR,R		33.8662,25.5583,30.9639				37,1749,3982				SO:0001652	inframe_insertion	729408							g.chrX:49208295_49208296insTAT			Xp11.23	2012-10-02			ENSG00000240257				31959	protein-coding gene	gene with protein product		300735					Standard	NM_001098407		Approved	GAGE8		Q9UEU5	OTTHUMG00000067393	ENST00000404720.2:c.25_27dupTAT	X.37:g.49208296_49208298dupTAT	ENSP00000386110:p.Tyr9dup						p.8_9TS>TIS	NM_001098407.1|NM_012196.1	NP_001091877.1|NP_036328.1					2	96_97	+								A6NG46|A6NNR8|B7ZL76|Q4V325	In_Frame_Ins	INS	ENST00000404720.2	37	c.24_25insTAT	CCDS43941.1																																																																																				0.465	GAGE2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000144212.1	NM_001098407		8	30						8	30	---	---	---	---	TAT	49208296	-	TAT	49208295	7	5	47	1	0	1	1	0	0	0	0	0	6190	668	24	0	236	0	GAGE2A	23	49208295	In_Frame_Ins	INS	-	TCGA-EJ-5497-01A-02D-1576-08		49208295	106062265	40	2576											
PABPC4	8761	broad.mit.edu	37	chr1	40027846	40027846	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cccagccagatttgaatgcaTtgtttggatgagtgggaaca	11	11	12	7	0	0	3	0	2	0	1	0	5	0	5	2	2	3	2	2	2	2	3	rs141368472		TCGA-EJ-5498-01A-01D-1576-08	TCGA-EJ-5498-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4e02da-87be-46e2-b4bd-555ca1440808	b8daddf3-4dbc-47b1-b5bf-777c46131bb8	g.chr1:40027846T>C	ENST00000372857.3	-	14	2536	c.1744A>G	c.(1744-1746)Atg>Gtg	p.M582V	PABPC4_ENST00000372862.3_Missense_Mutation_p.M553V|PABPC4_ENST00000372858.3_Missense_Mutation_p.M598V|RP11-69E11.8_ENST00000415255.1_RNA|PABPC4_ENST00000372856.3_Missense_Mutation_p.M569V	NM_003819.3	NP_003810.1	Q13310	PABP4_HUMAN	poly(A) binding protein, cytoplasmic 4 (inducible form)	582	PABC. {ECO:0000255|PROSITE- ProRule:PRU00641}.				blood coagulation (GO:0007596)|RNA catabolic process (GO:0006401)|RNA processing (GO:0006396)|translation (GO:0006412)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)|poly(U) RNA binding (GO:0008266)	p.M582V(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(6)|prostate(1)|skin(3)	21	Lung NSC(20;1.55e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;2.89e-18)|Epithelial(16;6.17e-17)|all cancers(16;1.18e-15)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			TTTGAATGCATTGTTTGGATG	0.473																																						ENST00000372857.3																			1	Substitution - Missense(1)	p.M582V(1)	prostate(1)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(6)|prostate(1)|skin(3)	21						c.(1744-1746)Atg>Gtg		poly(A) binding protein, cytoplasmic 4 (inducible form)		T	VAL/MET,VAL/MET,VAL/MET	1,4405	2.1+/-5.4	0,1,2202	63	61	62		1792,1705,1744	5.4	1	1	dbSNP_134	62	0,8600		0,0,4300	no	missense,missense,missense	PABPC4	NM_001135653.1,NM_001135654.1,NM_003819.3	21,21,21	0,1,6502	CC,CT,TT		0.0,0.0227,0.0077	probably-damaging,probably-damaging,probably-damaging	598/661,569/632,582/645	40027846	1,13005	2203	4300	6503	SO:0001583	missense	8761				blood coagulation|RNA catabolic process|RNA processing|translation	cytoplasm|ribonucleoprotein complex	nucleotide binding|poly(A) RNA binding|poly(U) RNA binding|protein binding	g.chr1:40027846T>C	U33818	CCDS438.1, CCDS44114.1, CCDS44115.1	1p34.2	2013-02-12	2001-11-28		ENSG00000090621	ENSG00000090621		"RNA binding motif (RRM) containing"	8557	protein-coding gene	gene with protein product		603407	"poly(A)-binding protein, cytoplasmic 4 (inducible form)"			10543404	Standard	NM_001135653		Approved	iPABP, APP-1	uc001cdl.2	Q13310	OTTHUMG00000009097	ENST00000372857.3:c.1744A>G	1.37:g.40027846T>C	ENSP00000361948:p.Met582Val					PABPC4_ENST00000372856.3_Missense_Mutation_p.M569V|PABPC4_ENST00000372858.3_Missense_Mutation_p.M598V|PABPC4_ENST00000372862.3_Missense_Mutation_p.M553V	p.M582V	NM_003819.3	NP_003810.1	Q13310	PABP4_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;2.89e-18)|Epithelial(16;6.17e-17)|all cancers(16;1.18e-15)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)		14	2536	-	Lung NSC(20;1.55e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	582			PABC.		B1ANQ8|Q4VC03|Q6P0N3	Missense_Mutation	SNP	ENST00000372857.3	37	c.1744A>G	CCDS438.1	.	.	.	.	.	.	.	.	.	.	T	15.63	2.891122	0.52014	2.27E-4	0.0	ENSG00000090621	ENST00000372862;ENST00000372858;ENST00000372857;ENST00000372856	T;T;T;T	0.41758	0.99;0.99;0.99;0.99	5.42	5.42	0.78866	Polyadenylate-binding protein/Hyperplastic disc protein (5);	0.035410	0.85682	D	0.000000	T	0.41213	0.1149	L	0.49256	1.55	0.58432	D	0.999997	B;B;B	0.14805	0.001;0.0;0.011	B;B;B	0.20577	0.018;0.01;0.03	T	0.24905	-1.0147	10	0.49607	T	0.09	.	15.4506	0.75271	0.0:0.0:0.0:1.0	.	582;569;598	Q13310;Q13310-2;Q4VC03	PABP4_HUMAN;.;.	V	553;598;582;569	ENSP00000361953:M553V;ENSP00000361949:M598V;ENSP00000361948:M582V;ENSP00000361947:M569V	ENSP00000361947:M569V	M	-	1	0	PABPC4	39800433	1.000000	0.71417	0.986000	0.45419	0.986000	0.74619	8.040000	0.89188	2.055000	0.61198	0.533000	0.62120	ATG		0.473	PABPC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000025220.1	NM_001135653		5	141	0	0	0	0.021553	0	5	141					C	40027846	T	C	40027846	3	2	48	1	0	0	0	0	1	0	0	0	11366	1493	52	4	198	4	PABPC4	1	40027846	Missense_Mutation	SNP	T	TCGA-EJ-5498-01A-01D-1576-08		40027846	209222775	1	2577											
KIAA0467	23334	broad.mit.edu	37	chr1	43897409	43897409	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgctggttgttggaagatgAgatggtgggggcactccgaa	8	9	17	7	2	0	2	0	1	0	2	1	5	1	3	2	5	0	4	2	5	2	2			TCGA-EJ-5498-01A-01D-1576-08	TCGA-EJ-5498-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4e02da-87be-46e2-b4bd-555ca1440808	b8daddf3-4dbc-47b1-b5bf-777c46131bb8	g.chr1:43897409A>G	ENST00000562955.1	+	35	4940	c.4940A>G	c.(4939-4941)gAg>gGg	p.E1647G	SZT2_ENST00000372442.1_Missense_Mutation_p.E805G	NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN	seizure threshold 2 homolog (mouse)	1704					central nervous system development (GO:0007417)|corpus callosum morphogenesis (GO:0021540)|embryo development (GO:0009790)|pigmentation (GO:0043473)|post-embryonic development (GO:0009791)|regulation of superoxide dismutase activity (GO:1901668)	extracellular vesicular exosome (GO:0070062)|peroxisome (GO:0005777)		p.E805G(2)		NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						TTGGAAGATGAGATGGTGGGG	0.567																																						ENST00000562955.1																			2	Substitution - Missense(2)	p.E805G(2)	prostate(2)	NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						c.(4939-4941)gAg>gGg		seizure threshold 2 homolog (mouse)							116	121	120					1																	43897409		2203	4300	6503	SO:0001583	missense	23334					peroxisome		g.chr1:43897409A>G	AB007936	CCDS30694.1, CCDS30694.2	1p34.2	2012-11-19	2011-06-10	2011-06-10	ENSG00000198198	ENSG00000198198			29040	protein-coding gene	gene with protein product	"seizure threshold 2 homolog A (mouse)", "seizure threshold 2 homolog B (mouse)"	615463	"chromosome 1 open reading frame 84", "KIAA0467"	C1orf84, KIAA0467		9455484	Standard	NM_015284		Approved	FLJ10387, SZT2B, RP11-506B15.1, FLJ34502, SZT2A	uc001cjk.3	Q5T011	OTTHUMG00000007423	ENST00000562955.1:c.4940A>G	1.37:g.43897409A>G	ENSP00000457168:p.Glu1647Gly					SZT2_ENST00000372442.1_Missense_Mutation_p.E805G	p.E1647G	NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN			35	4940	+			1704					A0PJK5|A7E2X4|O75055|Q5JUY7|Q5T012|Q5XKC7|Q6ZNI8|Q6ZT24|Q7Z636|Q8NAY9|Q9H5H7|Q9UFQ8	Missense_Mutation	SNP	ENST00000562955.1	37	c.4940A>G	CCDS30694.2	.	.	.	.	.	.	.	.	.	.	A	19.49	3.836741	0.71373	.	.	ENSG00000198198	ENST00000372442	.	.	.	5.66	5.66	0.87406	.	0.057161	0.64402	D	0.000002	T	0.66858	0.2832	L	0.32530	0.975	0.35718	D	0.816958	D	0.76494	0.999	D	0.71656	0.974	T	0.75800	-0.3190	9	0.72032	D	0.01	.	15.9058	0.79427	1.0:0.0:0.0:0.0	.	1647	Q5T011-5	.	G	805	.	ENSP00000361519:E805G	E	+	2	0	SZT2	43669996	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	8.687000	0.91255	2.154000	0.67381	0.533000	0.62120	GAG		0.567	SZT2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019517.3	NM_015284		3	162	0	0	0	0.115264	0	3	162					G	43897409	A	G	43897409	3	3	48	1	0	0	0	0	1	0	0	0	8178	304	11	4	2488	4	KIAA0467	1	43897409	Missense_Mutation	SNP	A	TCGA-EJ-5498-01A-01D-1576-08	3869563	43897409	205353212	2	2578											
RSBN1	54665	broad.mit.edu	37	chr1	114319949	114319949	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tacactggagtcggaggctaGaaagtgtaccccagggcaaa	13	6	13	9	1	0	1	0	0	0	1	1	3	0	3	2	4	2	3	2	4	5	3			TCGA-EJ-5498-01A-01D-1576-08	TCGA-EJ-5498-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4e02da-87be-46e2-b4bd-555ca1440808	b8daddf3-4dbc-47b1-b5bf-777c46131bb8	g.chr1:114319949G>C	ENST00000261441.5	-	4	1604	c.1541C>G	c.(1540-1542)tCt>tGt	p.S514C		NM_018364.3	NP_060834.2	Q5VWQ0	RSBN1_HUMAN	round spermatid basic protein 1	514						nucleus (GO:0005634)		p.S514C(1)		breast(1)|endometrium(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(3)|urinary_tract(2)	29	Lung SC(450;0.184)	all_cancers(81;3.78e-08)|all_epithelial(167;5.56e-08)|all_lung(203;6.97e-06)|Lung NSC(69;1.18e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TCGGAGGCTAGAAAGTGTACC	0.428																																						ENST00000261441.5																			1	Substitution - Missense(1)	p.S514C(1)	prostate(1)	breast(1)|endometrium(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(3)|urinary_tract(2)	29						c.(1540-1542)tCt>tGt		round spermatid basic protein 1							114	108	110					1																	114319949		2203	4300	6503	SO:0001583	missense	54665					nucleus		g.chr1:114319949G>C	AK002082	CCDS862.1	1p13.1	2008-02-05			ENSG00000081019	ENSG00000081019			25642	protein-coding gene	gene with protein product		615858				12477932	Standard	NM_018364		Approved	FLJ11220, ROSBIN	uc001edq.3	Q5VWQ0	OTTHUMG00000011938	ENST00000261441.5:c.1541C>G	1.37:g.114319949G>C	ENSP00000261441:p.Ser514Cys						p.S514C	NM_018364.3	NP_060834.2	Q5VWQ0	RSBN1_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	4	1604	-	Lung SC(450;0.184)	all_cancers(81;3.78e-08)|all_epithelial(167;5.56e-08)|all_lung(203;6.97e-06)|Lung NSC(69;1.18e-05)	514					A8K937|Q6AI21|Q8TC33|Q9HA80|Q9NUP6	Missense_Mutation	SNP	ENST00000261441.5	37	c.1541C>G	CCDS862.1	.	.	.	.	.	.	.	.	.	.	G	32	5.127065	0.94429	.	.	ENSG00000081019	ENST00000261441	.	.	.	5.9	5.9	0.94986	.	0.000000	0.85682	D	0.000000	D	0.82277	0.5002	M	0.82823	2.61	0.80722	D	1	D	0.76494	0.999	D	0.81914	0.995	D	0.83516	0.0083	9	0.87932	D	0	-7.9635	20.2789	0.98501	0.0:0.0:1.0:0.0	.	514	Q5VWQ0	RSBN1_HUMAN	C	514	.	ENSP00000261441:S514C	S	-	2	0	RSBN1	114121472	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.731000	0.98807	2.788000	0.95919	0.650000	0.86243	TCT		0.428	RSBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033022.2	NM_018364		40	188	0	0	0	0.086207	0	40	188					C	114319949	G	C	114319949	3	2	48	1	0	0	0	0	1	0	0	0	13696	942	33	5	883	5	RSBN1	1	114319949	Missense_Mutation	SNP	G	TCGA-EJ-5498-01A-01D-1576-08	70422540	114319949	134930672	3	2579											
CFH	3075	broad.mit.edu	37	chr1	196695918	196695918	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gagtacctgtggagatatacCtgaacttgaacatggctggg	11	10	13	7	0	0	3	0	2	0	1	0	5	0	3	2	3	4	2	2	3	5	4			TCGA-EJ-5498-01A-01D-1576-08	TCGA-EJ-5498-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4e02da-87be-46e2-b4bd-555ca1440808	b8daddf3-4dbc-47b1-b5bf-777c46131bb8	g.chr1:196695918C>A	ENST00000367429.4	+	14	2324	c.2084C>A	c.(2083-2085)cCt>cAt	p.P695H		NM_000186.3	NP_000177.2	P08603	CFAH_HUMAN	complement factor H	695	Sushi 12. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	heparan sulfate proteoglycan binding (GO:0043395)|heparin binding (GO:0008201)	p.P695H(1)		NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						GGAGATATACCTGAACTTGAA	0.353																																						ENST00000367429.4																			1	Substitution - Missense(1)	p.P695H(1)	prostate(1)	NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						c.(2083-2085)cCt>cAt		complement factor H							116	117	116					1																	196695918		2203	4300	6503	SO:0001583	missense	3075				complement activation, alternative pathway	extracellular space		g.chr1:196695918C>A	Y00716	CCDS1385.1	1q32	2014-09-17	2004-08-09	2004-08-12	ENSG00000000971	ENSG00000000971		"Complement system"	4883	protein-coding gene	gene with protein product	"beta-1H", "H factor 2 (complement)", "age-related maculopathy susceptibility 1"	134370	"H factor 1 (complement)"	HF, HF1, HF2		2889480, 2963625	Standard	NM_000186		Approved	HUS, FHL1, ARMS1, ARMD4	uc001gtj.4	P08603	OTTHUMG00000035607	ENST00000367429.4:c.2084C>A	1.37:g.196695918C>A	ENSP00000356399:p.Pro695His						p.P695H	NM_000186.3	NP_000177.2	P08603	CFAH_HUMAN			14	2324	+			695			Sushi 12.		A5PL14|P78435|Q14570|Q2TAZ5|Q38G77|Q5TFM3|Q8N708|Q9NU86	Missense_Mutation	SNP	ENST00000367429.4	37	c.2084C>A	CCDS1385.1	.	.	.	.	.	.	.	.	.	.	C	28.6	4.934165	0.92458	.	.	ENSG00000000971	ENST00000367429	T	0.68479	-0.33	5.8	5.8	0.92144	Complement control module (2);Sushi/SCR/CCP (3);	.	.	.	.	D	0.85362	0.5679	M	0.91510	3.215	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.87897	0.2688	9	0.72032	D	0.01	.	15.5488	0.76129	0.0:1.0:0.0:0.0	.	695	P08603	CFAH_HUMAN	H	695	ENSP00000356399:P695H	ENSP00000356399:P695H	P	+	2	0	CFH	194962541	0.232000	0.23762	0.164000	0.22755	0.918000	0.54935	3.433000	0.52834	2.742000	0.94016	0.655000	0.94253	CCT		0.353	CFH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086412.2	NM_000186		29	169	1	0	1.13719e-10	0.134883	1.40476e-10	29	169					A	196695918	C	A	196695918	3	1	48	1	0	0	0	0	1	0	0	0	3283	681	24	5	2156	5	CFH	1	196695918	Missense_Mutation	SNP	C	TCGA-EJ-5498-01A-01D-1576-08	82375969	196695918	52554703	4	2580											
ASPM	259266	broad.mit.edu	37	chr1	197104365	197104365	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcaaatggcatcgggtgtctGggaatatctaagaatacaat	14	10	11	6	1	2	1	0	0	2	1	3	2	2	2	0	3	1	2	0	3	7	3			TCGA-EJ-5498-01A-01D-1576-08	TCGA-EJ-5498-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4e02da-87be-46e2-b4bd-555ca1440808	b8daddf3-4dbc-47b1-b5bf-777c46131bb8	g.chr1:197104365G>C	ENST00000367409.4	-	5	2290	c.2034C>G	c.(2032-2034)ccC>ccG	p.P678P	ASPM_ENST00000294732.7_Silent_p.P678P|ASPM_ENST00000367408.1_5'Flank	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	678					developmental growth (GO:0048589)|forebrain neuroblast division (GO:0021873)|maintenance of centrosome location (GO:0051661)|mitotic nuclear division (GO:0007067)|negative regulation of asymmetric cell division (GO:0045769)|negative regulation of neuron differentiation (GO:0045665)|neuron migration (GO:0001764)|oogenesis (GO:0048477)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of neuroblast proliferation (GO:0002052)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle pole (GO:0000922)		p.P678P(1)		breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						TCGGGTGTCTGGGAATATCTA	0.333																																						ENST00000367409.4																			1	Substitution - coding silent(1)	p.P678P(1)	prostate(1)	breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						c.(2032-2034)ccC>ccG		asp (abnormal spindle) homolog, microcephaly associated (Drosophila)							60	60	60					1																	197104365		2203	4300	6503	SO:0001819	synonymous_variant	259266				mitosis	cytoplasm|nucleus	calmodulin binding	g.chr1:197104365G>C	AY367065	CCDS1389.1, CCDS55672.1	1q31	2008-02-05	2006-09-12		ENSG00000066279	ENSG00000066279			19048	protein-coding gene	gene with protein product		605481	"microcephaly, primary autosomal recessive 5", "asp (abnormal spindle)-like, microcephaly associated (Drosophila)"	MCPH5		11078481	Standard	NM_018136		Approved	Calmbp1, ASP, FLJ10517, FLJ10549	uc001gtu.3	Q8IZT6	OTTHUMG00000036277	ENST00000367409.4:c.2034C>G	1.37:g.197104365G>C						ASPM_ENST00000294732.7_Silent_p.P678P	p.P678P	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN			5	2290	-			678					Q4G1H1|Q5VYL3|Q86UX4|Q8IUL2|Q8IZJ7|Q8IZJ8|Q8IZJ9|Q8N4D1|Q9NVS1|Q9NVT6	Silent	SNP	ENST00000367409.4	37	c.2034C>G	CCDS1389.1																																																																																				0.333	ASPM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000088256.1	NM_018136		12	100	0	0	0	0.105934	0	12	100					C	197104365	G	C	197104365	2	2	48	1	0	0	0	0	0	0	0	1	1056	1335	47	5		5	ASPM	1	197104365	Silent	SNP	G	TCGA-EJ-5498-01A-01D-1576-08	408447	197104365	52146256	5	2581											
OBSCN	84033	broad.mit.edu	37	chr1	228462137	228462137	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ccacaccagtgcgcagctcaCcgtcagtggtatgtaagggg	9	7	13	12	2	2	0	2	0	0	0	2	0	2	0	3	3	2	4	3	3	2	2			TCGA-EJ-5498-01A-01D-1576-08	TCGA-EJ-5498-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4e02da-87be-46e2-b4bd-555ca1440808	b8daddf3-4dbc-47b1-b5bf-777c46131bb8	g.chr1:228462137C>T	ENST00000422127.1	+	19	5719	c.5675C>T	c.(5674-5676)aCc>aTc	p.T1892I	RP5-1139B12.2_ENST00000602517.1_RNA|OBSCN_ENST00000284548.11_Missense_Mutation_p.T1892I|OBSCN_ENST00000570156.2_Missense_Mutation_p.T2267I|OBSCN_ENST00000366709.4_5'UTR|RP5-1139B12.3_ENST00000602529.1_RNA|RP5-1139B12.3_ENST00000602947.1_RNA|OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000359599.6_Missense_Mutation_p.T739I	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	1892	Ig-like 18.				apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)	p.T2175I(1)|p.T1892I(1)		NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GCGCAGCTCACCGTCAGTGGT	0.642																																						ENST00000570156.2																			2	Substitution - Missense(2)	p.T2175I(1)|p.T1892I(1)	prostate(2)	NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223						c.(6799-6801)aCc>aTc		obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF							31	37	35					1																	228462137		2172	4270	6442	SO:0001583	missense	84033				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	g.chr1:228462137C>T	AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"Rho guanine nucleotide exchange factors", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.5675C>T	1.37:g.228462137C>T	ENSP00000409493:p.Thr1892Ile					OBSCN_ENST00000284548.11_Missense_Mutation_p.T1892I|OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000422127.1_Missense_Mutation_p.T1892I|OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000359599.6_Missense_Mutation_p.T739I	p.T2267I	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN			23	6874	+		Prostate(94;0.0405)	1250					Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Missense_Mutation	SNP	ENST00000422127.1	37	c.6800C>T	CCDS58065.1	.	.	.	.	.	.	.	.	.	.	C	17.55	3.418200	0.62622	.	.	ENSG00000154358	ENST00000284548;ENST00000422127;ENST00000359599	T;T;T	0.56275	0.47;0.47;0.47	5.29	2.29	0.28610	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.479752	0.19371	N	0.115905	T	0.60366	0.2263	L	0.53729	1.69	0.20563	N	0.999881	D;D	0.76494	0.999;0.98	D;P	0.68483	0.958;0.713	T	0.47983	-0.9074	10	0.36615	T	0.2	.	6.7154	0.23300	0.1341:0.6658:0.1292:0.0709	.	1892;1892	Q5VST9;Q5VST9-3	OBSCN_HUMAN;.	I	1892;1892;739	ENSP00000284548:T1892I;ENSP00000409493:T1892I;ENSP00000352613:T739I	ENSP00000284548:T1892I	T	+	2	0	OBSCN	226528760	0.000000	0.05858	0.000000	0.03702	0.014000	0.08584	0.659000	0.24994	0.284000	0.22305	0.555000	0.69702	ACC		0.642	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843		6	32	0	0	0	0.02938	0	6	32					T	228462137	C	T	228462137	3	4	48	1	0	0	0	0	1	0	0	0	10812	507	18	3	5745	3	OBSCN	1	228462137	Missense_Mutation	SNP	C	TCGA-EJ-5498-01A-01D-1576-08	31357772	228462137	20788484	6	2582											
GNPAT	8443	broad.mit.edu	37	chr1	231377146	231377146	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tggagtcttccagttcatctAactcttatttctccgttggc	6	17	7	11	1	5	0	1	0	4	0	7	1	6	1	2	2	1	2	2	2	2	6			TCGA-EJ-5498-01A-01D-1576-08	TCGA-EJ-5498-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4e02da-87be-46e2-b4bd-555ca1440808	b8daddf3-4dbc-47b1-b5bf-777c46131bb8	g.chr1:231377146A>G	ENST00000366647.4	+	1	191	c.22A>G	c.(22-24)Aac>Gac	p.N8D	C1orf131_ENST00000471936.1_5'Flank|C1orf131_ENST00000366651.3_5'Flank|GNPAT_ENST00000366646.3_Missense_Mutation_p.N8D|C1orf131_ENST00000366649.2_5'Flank|C1orf131_ENST00000318906.2_5'Flank	NM_014236.3	NP_055051.1	O15228	GNPAT_HUMAN	glyceronephosphate O-acyltransferase	8	Poly-Ser.				cellular lipid metabolic process (GO:0044255)|cerebellum morphogenesis (GO:0021587)|ether lipid biosynthetic process (GO:0008611)|glycerophospholipid biosynthetic process (GO:0046474)|membrane organization (GO:0061024)|paranodal junction assembly (GO:0030913)|phosphatidic acid biosynthetic process (GO:0006654)|phospholipid metabolic process (GO:0006644)|response to drug (GO:0042493)|response to fatty acid (GO:0070542)|response to nutrient (GO:0007584)|response to starvation (GO:0042594)|small molecule metabolic process (GO:0044281)|synapse assembly (GO:0007416)	membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	glycerone-phosphate O-acyltransferase activity (GO:0016287)|palmitoyl-CoA hydrolase activity (GO:0016290)|receptor binding (GO:0005102)	p.N8D(1)		breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|prostate(1)|skin(1)	23	Breast(184;0.0871)	all_cancers(173;0.2)|Prostate(94;0.183)				CAGTTCATCTAACTCTTATTT	0.617																																						ENST00000366647.4																			1	Substitution - Missense(1)	p.N8D(1)	prostate(1)	breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|prostate(1)|skin(1)	23						c.(22-24)Aac>Gac		glyceronephosphate O-acyltransferase							103	112	109					1																	231377146		2203	4300	6503	SO:0001583	missense	8443				ether lipid biosynthetic process|fatty acid metabolic process|organ morphogenesis	peroxisomal matrix|peroxisomal membrane	glycerone-phosphate O-acyltransferase activity	g.chr1:231377146A>G	AF043937	CCDS1592.1	1q42	2008-02-05			ENSG00000116906	ENSG00000116906	2.3.1.42		4416	protein-coding gene	gene with protein product		602744				9459311, 9536089	Standard	NM_014236		Approved	DHAPAT, DAPAT, DAP-AT	uc001hup.4	O15228	OTTHUMG00000038024	ENST00000366647.4:c.22A>G	1.37:g.231377146A>G	ENSP00000355607:p.Asn8Asp					GNPAT_ENST00000366646.3_Missense_Mutation_p.N8D	p.N8D	NM_014236.3	NP_055051.1	O15228	GNPAT_HUMAN			1	191	+	Breast(184;0.0871)	all_cancers(173;0.2)|Prostate(94;0.183)	8			Poly-Ser.		B4DNM9|Q5TBH7|Q9BWC2	Missense_Mutation	SNP	ENST00000366647.4	37	c.22A>G	CCDS1592.1	.	.	.	.	.	.	.	.	.	.	A	9.817	1.184851	0.21870	.	.	ENSG00000116906	ENST00000436239;ENST00000366647;ENST00000366646;ENST00000416000	D;T;T;T	0.87179	-2.22;0.0;-0.55;0.0	4.75	-0.181	0.13291	.	1.194560	0.06247	N	0.691350	T	0.81777	0.4894	L	0.44542	1.39	0.09310	N	1	B;B	0.10296	0.003;0.001	B;B	0.08055	0.003;0.003	T	0.68100	-0.5498	10	0.72032	D	0.01	-26.7412	7.0695	0.25171	0.5452:0.0:0.4548:0.0	.	8;8	B4DNM9;O15228	.;GNPAT_HUMAN	D	8	ENSP00000402811:N8D;ENSP00000355607:N8D;ENSP00000355606:N8D;ENSP00000411640:N8D	ENSP00000355606:N8D	N	+	1	0	GNPAT	229443769	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	0.553000	0.23391	0.038000	0.15604	-0.256000	0.11100	AAC		0.617	GNPAT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000092871.1			26	162	0	0	0	0.045705	0	26	162					G	231377146	A	G	231377146	3	3	48	1	0	0	0	0	1	0	0	0	6541	362	13	4	24	4	GNPAT	1	231377146	Missense_Mutation	SNP	A	TCGA-EJ-5498-01A-01D-1576-08	2915009	231377146	17873475	7	2583											
LYST	1130	broad.mit.edu	37	chr1	235840808	235840808	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atcccatatgatgcaggttcCgtctctgctcacacttatca	9	13	6	13	1	3	1	2	1	1	0	6	1	5	1	2	1	2	3	2	1	2	3			TCGA-EJ-5498-01A-01D-1576-08	TCGA-EJ-5498-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4e02da-87be-46e2-b4bd-555ca1440808	b8daddf3-4dbc-47b1-b5bf-777c46131bb8	g.chr1:235840808C>T	ENST00000389794.3	-	49	11086	c.10912G>A	c.(10912-10914)Gga>Aga	p.G3638R	LYST_ENST00000389793.2_Missense_Mutation_p.G3638R|LYST_ENST00000473037.1_5'UTR			Q99698	LYST_HUMAN	lysosomal trafficking regulator	3638					blood coagulation (GO:0007596)|defense response to bacterium (GO:0042742)|defense response to protozoan (GO:0042832)|defense response to virus (GO:0051607)|endosome to lysosome transport via multivesicular body sorting pathway (GO:0032510)|leukocyte chemotaxis (GO:0030595)|lysosome organization (GO:0007040)|mast cell secretory granule organization (GO:0033364)|melanosome organization (GO:0032438)|microtubule-based process (GO:0007017)|natural killer cell mediated cytotoxicity (GO:0042267)|neutrophil mediated immunity (GO:0002446)|phospholipid homeostasis (GO:0055091)|phospholipid metabolic process (GO:0006644)|pigmentation (GO:0043473)|positive regulation of natural killer cell activation (GO:0032816)|response to drug (GO:0042493)|secretion of lysosomal enzymes (GO:0033299)|T cell mediated immunity (GO:0002456)	cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)		p.G3638R(1)		NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			ATGCAGGTTCCGTCTCTGCTC	0.338																																						ENST00000389794.3																			1	Substitution - Missense(1)	p.G3638R(1)	prostate(1)	NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162						c.(10912-10914)Gga>Aga		lysosomal trafficking regulator							169	153	159					1																	235840808		2203	4300	6503	SO:0001583	missense	1130				defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding	g.chr1:235840808C>T	U70064	CCDS31062.1	1q42.1-q42.2	2014-09-17	2004-12-09	2004-12-10	ENSG00000143669	ENSG00000143669		"WD repeat domain containing"	1968	protein-coding gene	gene with protein product		606897	"Chediak-Higashi syndrome 1"	CHS1		8717042, 8896560	Standard	NM_000081		Approved	CHS	uc001hxj.3	Q99698	OTTHUMG00000040527	ENST00000389794.3:c.10912G>A	1.37:g.235840808C>T	ENSP00000374444:p.Gly3638Arg					LYST_ENST00000389793.2_Missense_Mutation_p.G3638R|LYST_ENST00000473037.1_5'UTR	p.G3638R			Q99698	LYST_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.000674)		49	11086	-	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	3638					O43274|Q5T2U9|Q96TD7|Q96TD8|Q99709|Q9H133	Missense_Mutation	SNP	ENST00000389794.3	37	c.10912G>A	CCDS31062.1	.	.	.	.	.	.	.	.	.	.	C	33	5.229437	0.95173	.	.	ENSG00000143669	ENST00000389794;ENST00000389793	T;T	0.63744	-0.06;-0.06	5.7	5.7	0.88788	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40 repeat, conserved site (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.71693	0.3370	L	0.28504	0.86	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.71097	-0.4691	10	0.45353	T	0.12	.	19.8149	0.96562	0.0:1.0:0.0:0.0	.	3638	Q99698	LYST_HUMAN	R	3638	ENSP00000374444:G3638R;ENSP00000374443:G3638R	ENSP00000374443:G3638R	G	-	1	0	LYST	233907431	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	7.731000	0.84895	2.685000	0.91497	0.655000	0.94253	GGA		0.338	LYST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097533.5			34	237	0	0	0	0.080422	0	34	237					T	235840808	C	T	235840808	3	4	48	1	0	0	0	0	1	0	0	0	9128	661	23	2	513	2	LYST	1	235840808	Missense_Mutation	SNP	C	TCGA-EJ-5498-01A-01D-1576-08	4463662	235840808	13409813	8	2584											
FBXO11	80204	broad.mit.edu	37	chr2	48059590	48059590	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttaacccaaatcccagctaaCgcattattggaaatttcatt	14	13	4	10	1	1	0	1	0	0	0	2	1	2	1	2	1	3	2	2	1	5	6			TCGA-EJ-5498-01A-01D-1576-08	TCGA-EJ-5498-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4e02da-87be-46e2-b4bd-555ca1440808	b8daddf3-4dbc-47b1-b5bf-777c46131bb8	g.chr2:48059590C>T	ENST00000403359.3	-	11	1368	c.1296G>A	c.(1294-1296)gcG>gcA	p.A432A	FBXO11_ENST00000402508.1_Silent_p.A348A|FBXO11_ENST00000316377.4_Silent_p.A348A|FBXO11_ENST00000434523.2_5'UTR	NM_001190274.1	NP_001177203.1	Q86XK2	FBX11_HUMAN	F-box protein 11	432					cellular protein modification process (GO:0006464)|peptidyl-arginine N-methylation (GO:0035246)|protein ubiquitination (GO:0016567)|sensory perception of sound (GO:0007605)|ubiquitin-dependent protein catabolic process (GO:0006511)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	protein-arginine N-methyltransferase activity (GO:0016274)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.A348A(2)|p.0?(2)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	26		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			TCCCAGCTAACGCATTATTGG	0.328			"Mis, F, D"		DLBCL																																	ENST00000403359.3				Rec	yes		2	2p16.3	80204	"Mis, F, D"	F-box protein 11			L			DLBCL		4	Whole gene deletion(2)|Substitution - coding silent(2)	p.A348A(2)|p.0?(2)	haematopoietic_and_lymphoid_tissue(2)|prostate(1)|lung(1)	endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	26						c.(1294-1296)gcG>gcA		F-box protein 11							76	77	77					2																	48059590		2203	4300	6503	SO:0001819	synonymous_variant	80204				ubiquitin-dependent protein catabolic process	cytoplasm|nucleolus|ubiquitin ligase complex	protein binding|protein-arginine N-methyltransferase activity|ubiquitin-protein ligase activity|zinc ion binding	g.chr2:48059590C>T	AF174599	CCDS1837.1, CCDS54357.1	2p16.3	2014-01-29	2008-06-23	2008-06-23	ENSG00000138081	ENSG00000138081		"Ubiquitin protein ligase E3 component n-recognins", "F-boxes /  "other""	13590	protein-coding gene	gene with protein product	"ubiquitin protein ligase E3 component n-recognin 6"	607871	"F-box only protein 11"			10531035, 16487488, 18162545	Standard	NM_025133		Approved	FBX11, UBR6	uc002rwe.3	Q86XK2	OTTHUMG00000129130	ENST00000403359.3:c.1296G>A	2.37:g.48059590C>T						FBXO11_ENST00000402508.1_Silent_p.A348A|FBXO11_ENST00000316377.4_Silent_p.A348A|FBXO11_ENST00000434523.2_5'UTR	p.A432A	NM_001190274.1	NP_001177203.1	Q86XK2	FBX11_HUMAN	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		11	1368	-		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	432					A1L491|Q52ZP1|Q53EP7|Q53RT5|Q8IXG3|Q96E90|Q9H6V8|Q9H9L1|Q9NR14|Q9UFK1|Q9UHI1|Q9UKC2	Silent	SNP	ENST00000403359.3	37	c.1296G>A	CCDS54357.1	.	.	.	.	.	.	.	.	.	.	C	7.186	0.590642	0.13812	.	.	ENSG00000138081	ENST00000493962	.	.	.	5.95	-3.57	0.04612	.	.	.	.	.	T	0.47948	0.1473	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.40251	-0.9573	4	.	.	.	-5.6348	5.8004	0.18410	0.129:0.4462:0.0591:0.3657	.	.	.	.	I	224	.	.	V	-	1	0	FBXO11	47913094	0.488000	0.25996	0.960000	0.40013	0.916000	0.54674	-0.121000	0.10643	-0.948000	0.03668	-2.737000	0.00128	GTT		0.328	FBXO11-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251181.3	NM_012167, NM_018693, NM_025133		18	128	0	0	0	0.038395	0	18	128					T	48059590	C	T	48059590	2	4	48	1	0	0	0	0	0	0	0	1	5727	523	19	1		1	FBXO11	2	48059590	Silent	SNP	C	TCGA-EJ-5498-01A-01D-1576-08		48059590	195139783	9	2585											
KYNU	8942	broad.mit.edu	37	chr2	143790837	143790837	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tccctggggtctgtggattcCgaatttcaaatcctcccatt	7	14	8	12	1	2	0	1	0	1	0	6	2	6	1	4	3	0	0	4	3	2	3			TCGA-EJ-5498-01A-01D-1576-08	TCGA-EJ-5498-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4e02da-87be-46e2-b4bd-555ca1440808	b8daddf3-4dbc-47b1-b5bf-777c46131bb8	g.chr2:143790837C>T	ENST00000264170.4	+	12	1246	c.988C>T	c.(988-990)Cga>Tga	p.R330*	KYNU_ENST00000409512.1_Nonsense_Mutation_p.R330*	NM_003937.2	NP_003928.1			kynureninase									p.R330*(1)		large_intestine(10)|liver(1)|lung(18)|prostate(3)|skin(4)	36				BRCA - Breast invasive adenocarcinoma(221;0.072)		CTGTGGATTCCGAATTTCAAA	0.373																																						ENST00000264170.4																			1	Substitution - Nonsense(1)	p.R330*(1)	prostate(1)	large_intestine(10)|liver(1)|lung(18)|prostate(3)|skin(4)	36						c.(988-990)Cga>Tga		kynureninase	L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114)						306	298	301					2																	143790837		2203	4300	6503	SO:0001587	stop_gained	8942				anthranilate metabolic process|NAD biosynthetic process|quinolinate biosynthetic process|response to interferon-gamma|response to vitamin B6	cytosol|mitochondrion|soluble fraction	kynureninase activity|protein homodimerization activity	g.chr2:143790837C>T	U57721	CCDS2183.1, CCDS33299.1	2q22.2	2010-11-23	2010-11-23		ENSG00000115919	ENSG00000115919	3.7.1.3		6469	protein-coding gene	gene with protein product	"L-kynurenine hydrolase"	605197	"kynureninase (L-kynurenine hydrolase)"			8706755, 9180257	Standard	NM_001199241		Approved		uc002tvl.3	Q16719	OTTHUMG00000131829	ENST00000264170.4:c.988C>T	2.37:g.143790837C>T	ENSP00000264170:p.Arg330*					KYNU_ENST00000409512.1_Nonsense_Mutation_p.R330*	p.R330*	NM_003937.2	NP_003928.1	Q16719	KYNU_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.072)	12	1246	+			330						Nonsense_Mutation	SNP	ENST00000264170.4	37	c.988C>T	CCDS2183.1	.	.	.	.	.	.	.	.	.	.	C	38	7.173284	0.98114	.	.	ENSG00000115919	ENST00000264170;ENST00000409512	.	.	.	6.03	5.14	0.70334	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.09338	T	0.73	.	15.0364	0.71751	0.1422:0.8578:0.0:0.0	.	.	.	.	X	330	.	ENSP00000264170:R330X	R	+	1	2	KYNU	143507307	1.000000	0.71417	1.000000	0.80357	0.805000	0.45488	2.658000	0.46733	1.526000	0.49068	0.655000	0.94253	CGA		0.373	KYNU-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254772.1	NM_001032998		63	486	0	0	0	0.139131	0	63	486					T	143790837	C	T	143790837	4	4	48	1	0	0	0	0	0	1	0	0	8587	644	23	2	1056	2	KYNU	2	143790837	Nonsense_Mutation	SNP	C	TCGA-EJ-5498-01A-01D-1576-08	95731247	143790837	99408536	10	2586											
SP140L	93349	broad.mit.edu	37	chr2	231222557	231222557	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggatgtagatgagggacttGtctatgacactgtattcaag	12	12	12	5	0	2	3	1	2	1	1	2	5	2	5	0	2	0	2	0	2	4	5			TCGA-EJ-5498-01A-01D-1576-08	TCGA-EJ-5498-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4e02da-87be-46e2-b4bd-555ca1440808	b8daddf3-4dbc-47b1-b5bf-777c46131bb8	g.chr2:231222557G>T	ENST00000415673.2	+	3	231	c.145G>T	c.(145-147)Gtc>Ttc	p.V49F	SP140L_ENST00000444636.1_Missense_Mutation_p.V49F|SP140L_ENST00000243810.6_Missense_Mutation_p.V49F|SP140L_ENST00000458341.1_5'UTR|SP140L_ENST00000396563.4_Missense_Mutation_p.V49F|SP140_ENST00000486687.2_3'UTR	NM_138402.4	NP_612411.4	Q9H930	SP14L_HUMAN	SP140 nuclear body protein-like	49	HSR. {ECO:0000255|PROSITE- ProRule:PRU00747}.					nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.V49F(1)		central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(7)|prostate(1)|skin(1)	20						TGAGGGACTTGTCTATGACAC	0.423																																						ENST00000243810.6																			1	Substitution - Missense(1)	p.V49F(1)	prostate(1)	central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(7)|prostate(1)|skin(1)	20						c.(145-147)Gtc>Ttc		SP140 nuclear body protein-like							204	208	206					2																	231222557		2178	4295	6473	SO:0001583	missense	93349					nucleus	DNA binding|metal ion binding	g.chr2:231222557G>T	BC004921	CCDS46538.1	2q37.1	2013-01-28			ENSG00000185404	ENSG00000185404		"Zinc fingers, PHD-type"	25105	protein-coding gene	gene with protein product						12477932	Standard	NM_138402		Approved		uc010fxm.1	Q9H930	OTTHUMG00000153730	ENST00000415673.2:c.145G>T	2.37:g.231222557G>T	ENSP00000397911:p.Val49Phe					SP140_ENST00000486687.2_3'UTR|SP140L_ENST00000415673.2_Missense_Mutation_p.V49F|SP140L_ENST00000396563.4_Missense_Mutation_p.V49F|SP140L_ENST00000458341.1_5'UTR|SP140L_ENST00000444636.1_Missense_Mutation_p.V49F	p.V49F			Q9H930	LY10L_HUMAN			3	145	+			49			HSR.		Q2M375|Q4ZG65|Q9BSP3	Missense_Mutation	SNP	ENST00000415673.2	37	c.145G>T	CCDS46538.1	.	.	.	.	.	.	.	.	.	.	G	0	-2.753311	0.00085	.	.	ENSG00000185404	ENST00000444636;ENST00000415673;ENST00000243810;ENST00000396563	D;D;D;D	0.94330	-3.4;-3.4;-3.4;-3.4	3.23	-6.47	0.01902	.	.	.	.	.	T	0.79052	0.4381	N	0.05441	-0.05	0.09310	N	1	B	0.06786	0.001	B	0.09377	0.004	T	0.61153	-0.7120	9	0.34782	T	0.22	.	0.1006	0.00048	0.2774:0.189:0.2511:0.2825	.	49	Q9H930-4	.	F	49	ENSP00000395195:V49F;ENSP00000397911:V49F;ENSP00000243810:V49F;ENSP00000379811:V49F	ENSP00000243810:V49F	V	+	1	0	SP140L	230930801	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-6.603000	0.00060	-4.008000	0.00082	-2.842000	0.00104	GTC		0.423	SP140L-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374538.1	NM_138402		14	454	1	0	3.27435e-08	0.11911	3.92922e-08	14	454					T	231222557	G	T	231222557	3	4	48	1	0	0	0	0	1	0	0	0	14963	1377	48	5	155	5	SP140L	2	231222557	Missense_Mutation	SNP	G	TCGA-EJ-5498-01A-01D-1576-08	87431720	231222557	11976816	11	2587											
SETD2	29072	broad.mit.edu	37	chr3	47163433	47163433	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgtgttctctccgcatttcAagagagttagactgtccacc	9	13	8	11	1	2	2	1	0	1	2	5	3	4	2	3	0	0	3	3	0	2	3			TCGA-EJ-5498-01A-01D-1576-08	TCGA-EJ-5498-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4e02da-87be-46e2-b4bd-555ca1440808	b8daddf3-4dbc-47b1-b5bf-777c46131bb8	g.chr3:47163433A>C	ENST00000409792.3	-	3	2735	c.2693T>G	c.(2692-2694)tTg>tGg	p.L898W		NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2	898					angiogenesis (GO:0001525)|cell migration involved in vasculogenesis (GO:0035441)|coronary vasculature morphogenesis (GO:0060977)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic placenta morphogenesis (GO:0060669)|forebrain development (GO:0030900)|histone H3-K36 trimethylation (GO:0097198)|mesoderm morphogenesis (GO:0048332)|mismatch repair (GO:0006298)|morphogenesis of a branching structure (GO:0001763)|neural tube closure (GO:0001843)|nucleosome organization (GO:0034728)|pericardium development (GO:0060039)|regulation of mRNA export from nucleus (GO:0010793)|regulation of transcription, DNA-templated (GO:0006355)|stem cell development (GO:0048864)|transcription elongation from RNA polymerase II promoter (GO:0006368)	chromosome (GO:0005694)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)	p.L395W(1)|p.L898W(1)		breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		TCCGCATTTCAAGAGAGTTAG	0.378			"N, F, S, Mis"		clear cell renal carcinoma																																	ENST00000409792.3				Rec	yes		3	3p21.31	29072	"N, F, S, Mis"	SET domain containing 2			E			clear cell renal carcinoma		2	Substitution - Missense(2)	p.L395W(1)|p.L898W(1)	prostate(2)	breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141						c.(2692-2694)tTg>tGg		SET domain containing 2							99	103	102					3																	47163433		2203	4300	6503	SO:0001583	missense	29072				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding	g.chr3:47163433A>C	AJ238403	CCDS2749.2	3p21.31	2014-09-17			ENSG00000181555	ENSG00000181555		"Chromatin-modifying enzymes / K-methyltransferases"	18420	protein-coding gene	gene with protein product		612778				16118227, 11461154	Standard	NM_014159		Approved	HYPB, HIF-1, KIAA1732, FLJ23184, KMT3A	uc003cqs.3	Q9BYW2	OTTHUMG00000133514	ENST00000409792.3:c.2693T>G	3.37:g.47163433A>C	ENSP00000386759:p.Leu898Trp						p.L898W	NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)	3	2735	-		Acute lymphoblastic leukemia(5;0.0169)	898					O75397|O75405|Q17RW8|Q5BKS9|Q5QGN2|Q69YI5|Q6IN64|Q6ZN53|Q6ZS25|Q8N3R0|Q8TCN0|Q9C0D1|Q9H696|Q9NZW9	Missense_Mutation	SNP	ENST00000409792.3	37	c.2693T>G	CCDS2749.2	.	.	.	.	.	.	.	.	.	.	A	13.51	2.259475	0.39995	.	.	ENSG00000181555	ENST00000451092;ENST00000543224;ENST00000409792;ENST00000412450	D;T	0.90732	-2.72;1.15	4.39	4.39	0.52855	.	0.461885	0.17427	N	0.174604	D	0.85177	0.5637	N	0.08118	0	0.09310	N	1	D;D	0.58620	0.983;0.983	P;P	0.56127	0.792;0.792	T	0.76146	-0.3066	10	0.72032	D	0.01	.	5.4218	0.16403	0.839:0.0:0.161:0.0	.	898;898	F2Z317;Q9BYW2	.;SETD2_HUMAN	W	898;898;898;854	ENSP00000386759:L898W;ENSP00000416401:L854W	ENSP00000386759:L898W	L	-	2	0	SETD2	47138437	0.048000	0.20356	0.977000	0.42913	0.884000	0.51177	2.191000	0.42640	1.831000	0.53308	0.533000	0.62120	TTG		0.378	SETD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257479.2	NM_014159		8	273	0	0	0	0.038147	0	8	273					C	47163433	A	C	47163433	3	2	48	1	0	0	0	0	1	0	0	0	14131	131	5	5	5077	5	SETD2	3	47163433	Missense_Mutation	SNP	A	TCGA-EJ-5498-01A-01D-1576-08		47163433	150858997	12	2588											
MST1	327	broad.mit.edu	37	chr3	49723304	49723304	+	IGR	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gggactcactgcggcttgtgCggcgtctcagcggaccagcg	5	7	16	13	5	2	0	2	0	1	0	3	2	2	2	1	4	4	1	1	4	0	1			TCGA-EJ-5498-01A-01D-1576-08	TCGA-EJ-5498-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4e02da-87be-46e2-b4bd-555ca1440808	b8daddf3-4dbc-47b1-b5bf-777c46131bb8	g.chr3:49723304C>T	ENST00000296456.5	+	0	3220				MST1_ENST00000494828.2_5'Flank|MST1_ENST00000383728.3_3'UTR|MST1_ENST00000449682.2_Silent_p.P413P|AC099668.5_ENST00000563780.1_RNA	NM_001640.3	NP_001631.3	P13798	ACPH_HUMAN	acylaminoacyl-peptide hydrolase						beta-amyloid metabolic process (GO:0050435)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear membrane (GO:0031965)	omega peptidase activity (GO:0008242)|poly(A) RNA binding (GO:0044822)|serine-type endopeptidase activity (GO:0004252)			endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|stomach(2)|urinary_tract(1)	15				BRCA - Breast invasive adenocarcinoma(193;4.53e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		GCGGCTTGTGCGGCGTCTCAG	0.682																																						ENST00000449682.2																			0				NS(4)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|skin(9)|stomach(1)|urinary_tract(2)	41						c.(1237-1239)ccG>ccA		macrophage stimulating 1 (hepatocyte growth factor-like)							56	53	54					3																	49723304		2194	4278	6472	SO:0001628	intergenic_variant	4485				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr3:49723304C>T	D38441	CCDS2801.1	3p21	2013-05-29	2013-05-29		ENSG00000164062	ENSG00000164062	3.4.19.1		586	protein-coding gene	gene with protein product	"acylaminoacyl-peptidase"	102645	"N-acylaminoacyl-peptide hydrolase"	D3F15S2, DNF15S2, D3S48E		2392324	Standard	NM_001640		Approved		uc003cxf.3	P13798	OTTHUMG00000156882		3.37:g.49723304C>T						MST1_ENST00000383728.3_3'UTR	p.P413P	NM_020998.3	NP_066278.3	P26927	HGFL_HUMAN		BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	10	1600	-			399			Kringle 4.		Q9BQ33|Q9P0Y2	Silent	SNP	ENST00000296456.5	37	c.1239G>A	CCDS2801.1																																																																																				0.682	APEH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346415.2			4	112	0	0	0	0.014758	0	4	112					T	49723304	C	T	49723304	1	4	48	0	1	0	0	0	0	0	0	0	9890	755	27	1		1	MST1	3	49723304	IGR	SNP	C	TCGA-EJ-5498-01A-01D-1576-08	2559871	49723304	148299126	13	2589											
MYH15	22989	broad.mit.edu	37	chr3	108112995	108112995	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ttcttcttctggctgaggagGcttgtgttctaaagaaaagc	9	14	11	7	0	4	2	0	1	4	1	4	3	4	3	0	3	1	3	0	3	4	6	rs200118280	byFrequency	TCGA-EJ-5498-01A-01D-1576-08	TCGA-EJ-5498-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4e02da-87be-46e2-b4bd-555ca1440808	b8daddf3-4dbc-47b1-b5bf-777c46131bb8	g.chr3:108112995G>A	ENST00000273353.3	-	37	5258	c.5202C>T	c.(5200-5202)agC>agT	p.S1734S		NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN	myosin, heavy chain 15	1734						cytoplasm (GO:0005737)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)	p.S1734S(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						GGCTGAGGAGGCTTGTGTTCT	0.478													G|||	2	0.000399361	0.0015	0	5008	,	,		21106	0		0	False		,,,				2504	0					ENST00000273353.3																			1	Substitution - coding silent(1)	p.S1734S(1)	prostate(1)	NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						c.(5200-5202)agC>agT		myosin, heavy chain 15		G		3,4013		0,3,2005	82	85	84		5202	-2.8	0.9	3		84	0,8360		0,0,4180	no	coding-synonymous	MYH15	NM_014981.1		0,3,6185	AA,AG,GG		0.0,0.0747,0.0242		1734/1947	108112995	3,12373	2008	4180	6188	SO:0001819	synonymous_variant	22989					myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity	g.chr3:108112995G>A	AB023217	CCDS43127.1	3q13	2011-09-27	2006-09-29		ENSG00000144821	ENSG00000144821		"Myosins / Myosin superfamily : Class II"	31073	protein-coding gene	gene with protein product		609929	"myosin, heavy polypeptide 15"			15014174, 15042088	Standard	NM_014981		Approved	KIAA1000	uc003dxa.1	Q9Y2K3	OTTHUMG00000159226	ENST00000273353.3:c.5202C>T	3.37:g.108112995G>A							p.S1734S	NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN			37	5258	-			1734						Silent	SNP	ENST00000273353.3	37	c.5202C>T	CCDS43127.1																																																																																				0.478	MYH15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353935.1	XM_036988		30	150	0	0	0	0.144211	0	30	150					A	108112995	G	A	108112995	2	1	48	1	0	0	0	0	0	0	0	1	10034	1194	42	3		3	MYH15	3	108112995	Silent	SNP	G	TCGA-EJ-5498-01A-01D-1576-08	58389691	108112995	89909435	14	2590											
AMBN	258	broad.mit.edu	37	chr4	71472377	71472377	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggccccaaactctctgcaaaCatccatgccaggaaacaaag	15	5	7	14	0	1	0	0	0	1	0	3	1	2	1	4	2	5	1	4	2	4	0			TCGA-EJ-5498-01A-01D-1576-08	TCGA-EJ-5498-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4e02da-87be-46e2-b4bd-555ca1440808	b8daddf3-4dbc-47b1-b5bf-777c46131bb8	g.chr4:71472377C>T	ENST00000322937.6	+	13	1377	c.1274C>T	c.(1273-1275)aCa>aTa	p.T425I	AMBN_ENST00000449493.2_Missense_Mutation_p.T410I	NM_016519.5	NP_057603.1	Q9NP70	AMBN_HUMAN	ameloblastin (enamel matrix protein)	425					biomineral tissue development (GO:0031214)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|odontogenesis of dentin-containing tooth (GO:0042475)	proteinaceous extracellular matrix (GO:0005578)	growth factor activity (GO:0008083)|structural constituent of tooth enamel (GO:0030345)	p.T425I(1)		NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(1)	29			Lung(101;0.235)			TCTCTGCAAACATCCATGCCA	0.488																																						ENST00000322937.6																			1	Substitution - Missense(1)	p.T425I(1)	prostate(1)	NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(1)	29						c.(1273-1275)aCa>aTa		ameloblastin (enamel matrix protein)							55	60	59					4																	71472377		2203	4300	6503	SO:0001583	missense	258				bone mineralization|cell adhesion|cell proliferation|odontogenesis of dentine-containing tooth	proteinaceous extracellular matrix	growth factor activity|structural constituent of tooth enamel	g.chr4:71472377C>T	AF209780	CCDS3543.1	4q21	2006-11-28	2006-04-27		ENSG00000178522	ENSG00000178522			452	protein-coding gene	gene with protein product		601259	"ameloblastin, enamel matrix protein"			9126491	Standard	NM_016519		Approved		uc003hfl.3	Q9NP70	OTTHUMG00000129913	ENST00000322937.6:c.1274C>T	4.37:g.71472377C>T	ENSP00000313809:p.Thr425Ile					AMBN_ENST00000449493.2_Missense_Mutation_p.T410I	p.T425I	NM_016519.5	NP_057603.1	Q9NP70	AMBN_HUMAN	Lung(101;0.235)		13	1377	+			425					Q3B862|Q9H2X1|Q9H4L1	Missense_Mutation	SNP	ENST00000322937.6	37	c.1274C>T	CCDS3543.1	.	.	.	.	.	.	.	.	.	.	C	11.00	1.511667	0.27036	.	.	ENSG00000178522	ENST00000322937;ENST00000538728;ENST00000449493	T;T	0.35973	1.28;1.28	5.76	5.76	0.90799	.	0.163370	0.41823	D	0.000805	T	0.54398	0.1856	M	0.74881	2.28	0.09310	N	0.999999	P	0.46859	0.885	P	0.55615	0.78	T	0.50759	-0.8790	10	0.35671	T	0.21	-7.9336	15.4698	0.75432	0.0:1.0:0.0:0.0	.	425	Q9NP70	AMBN_HUMAN	I	425;424;410	ENSP00000313809:T425I;ENSP00000391234:T410I	ENSP00000313809:T425I	T	+	2	0	AMBN	71506966	0.113000	0.22115	0.051000	0.19133	0.060000	0.15804	2.554000	0.45845	2.726000	0.93360	0.563000	0.77884	ACA		0.488	AMBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252165.1	NM_016519		22	93	0	0	0	0.055883	0	22	93					T	71472377	C	T	71472377	3	4	48	1	0	0	0	0	1	0	0	0	563	478	17	3	1324	3	AMBN	4	71472377	Missense_Mutation	SNP	C	TCGA-EJ-5498-01A-01D-1576-08		71472377	119681899	15	2591											
FAT4	79633	broad.mit.edu	37	chr4	126242091	126242091	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtgccaatagaaactagaCggtatgctttgaagaacgtg	13	10	11	7	2	0	4	0	1	0	3	0	4	0	4	1	1	4	2	1	1	7	4	rs200214434		TCGA-EJ-5498-01A-01D-1576-08	TCGA-EJ-5498-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4e02da-87be-46e2-b4bd-555ca1440808	b8daddf3-4dbc-47b1-b5bf-777c46131bb8	g.chr4:126242091C>T	ENST00000394329.3	+	1	4538	c.4525C>T	c.(4525-4527)Cgg>Tgg	p.R1509W		NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	1509	Cadherin 14. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.R1509W(2)		NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						AGAAACTAGACGGTATGCTTT	0.403													C|||	1	0.000199681	0	0	5008	,	,		22496	0		0.001	False		,,,				2504	0					ENST00000394329.3																			2	Substitution - Missense(2)	p.R1509W(2)	prostate(2)	NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						c.(4525-4527)Cgg>Tgg		FAT atypical cadherin 4							140	129	133					4																	126242091		1927	4134	6061	SO:0001583	missense	79633				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:126242091C>T	AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"Cadherins / Cadherin-related"	23109	protein-coding gene	gene with protein product	"cadherin-related family member 11"	612411	"FAT tumor suppressor homolog 4 (Drosophila)"			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.4525C>T	4.37:g.126242091C>T	ENSP00000377862:p.Arg1509Trp						p.R1509W	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN			1	4538	+			1509			Cadherin 14.		A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Missense_Mutation	SNP	ENST00000394329.3	37	c.4525C>T	CCDS3732.3	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	11.11	1.543121	0.27563	.	.	ENSG00000196159	ENST00000394329	T	0.55234	0.53	4.57	-1.12	0.09808	Cadherin (4);Cadherin-like (1);	0.000000	0.32204	U	0.006421	T	0.69486	0.3116	M	0.73430	2.235	0.34793	D	0.735973	D	0.89917	1.0	D	0.91635	0.999	T	0.79014	-0.1976	10	0.62326	D	0.03	.	16.4179	0.83748	0.7117:0.2883:0.0:0.0	.	1509	Q6V0I7	FAT4_HUMAN	W	1509	ENSP00000377862:R1509W	ENSP00000377862:R1509W	R	+	1	2	FAT4	126461541	0.060000	0.20803	0.072000	0.20136	0.253000	0.25986	0.376000	0.20535	-0.054000	0.13266	0.655000	0.94253	CGG		0.403	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582		52	285	0	0	0	0.139131	0	52	285					T	126242091	C	T	126242091	3	4	48	1	0	0	0	0	1	0	0	0	5692	527	19	1	4527	1	FAT4	4	126242091	Missense_Mutation	SNP	C	TCGA-EJ-5498-01A-01D-1576-08	54769714	126242091	64912185	16	2592											
FAM134B	54463	broad.mit.edu	37	chr5	16475005	16475005	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcaccttcttcagtgtctgTgtcctcttctgggatggggg	4	15	12	10	0	6	0	2	0	4	0	7	1	7	1	2	3	0	0	2	3	0	3			TCGA-EJ-5498-01A-01D-1576-08	TCGA-EJ-5498-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4e02da-87be-46e2-b4bd-555ca1440808	b8daddf3-4dbc-47b1-b5bf-777c46131bb8	g.chr5:16475005T>C	ENST00000306320.9	-	9	1425	c.1339A>G	c.(1339-1341)Aca>Gca	p.T447A	FAM134B_ENST00000399793.2_Missense_Mutation_p.T306A	NM_001034850.2	NP_001030022.1	Q9H6L5	F134B_HUMAN	family with sequence similarity 134, member B	447					sensory perception of pain (GO:0019233)	cis-Golgi network (GO:0005801)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)		p.T447A(1)		breast(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(2)|skin(1)	16						TCAGTGTCTGTGTCCTCTTCT	0.493																																						ENST00000306320.9																			1	Substitution - Missense(1)	p.T447A(1)	prostate(1)	breast(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(2)|skin(1)	16						c.(1339-1341)Aca>Gca		family with sequence similarity 134, member B							98	97	97					5																	16475005		1983	4178	6161	SO:0001583	missense	54463				sensory perception of pain	cis-Golgi network|endoplasmic reticulum|integral to membrane		g.chr5:16475005T>C	BC053326	CCDS43304.1, CCDS43305.1	5p15.1	2014-09-17			ENSG00000154153	ENSG00000154153			25964	protein-coding gene	gene with protein product		613114				19838196, 24327336	Standard	NM_001034850		Approved	FLJ20152	uc003jfs.3	Q9H6L5	OTTHUMG00000161788	ENST00000306320.9:c.1339A>G	5.37:g.16475005T>C	ENSP00000304642:p.Thr447Ala					FAM134B_ENST00000399793.2_Missense_Mutation_p.T306A	p.T447A	NM_001034850.2	NP_001030022.1	Q9H6L5	F134B_HUMAN			9	1425	-			447					Q69YN8|Q9H6K6|Q9H764|Q9NXM8	Missense_Mutation	SNP	ENST00000306320.9	37	c.1339A>G	CCDS43304.1	.	.	.	.	.	.	.	.	.	.	T	16.41	3.115038	0.56505	.	.	ENSG00000154153	ENST00000399793;ENST00000306320	T;T	0.46819	0.89;0.86	5.82	5.82	0.92795	.	0.051112	0.85682	D	0.000000	T	0.64940	0.2644	L	0.56769	1.78	0.44908	D	0.997923	D;D	0.71674	0.997;0.998	D;D	0.80764	0.985;0.994	T	0.62445	-0.6853	10	0.35671	T	0.21	-19.4205	16.1832	0.81925	0.0:0.0:0.0:1.0	.	447;306	Q9H6L5;Q9H6L5-2	F134B_HUMAN;.	A	306;447	ENSP00000382691:T306A;ENSP00000304642:T447A	ENSP00000304642:T447A	T	-	1	0	FAM134B	16528005	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	4.373000	0.59537	2.218000	0.71995	0.533000	0.62120	ACA		0.493	FAM134B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000366090.1	NM_001034850		21	133	0	0	0	0.055883	0	21	133					C	16475005	T	C	16475005	3	2	48	1	0	0	0	0	1	0	0	0	5446	1696	59	4	158	4	FAM134B	5	16475005	Missense_Mutation	SNP	T	TCGA-EJ-5498-01A-01D-1576-08		16475005	164440255	17	2593											
EHMT2	10919	broad.mit.edu	37	chr6	31850727	31850727	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ctccagcatgagcacgcctgGttacactcgaaaatcagcgg	11	7	10	13	3	1	1	1	1	0	0	3	2	2	1	2	2	4	3	2	2	3	1			TCGA-EJ-5498-01A-01D-1576-08	TCGA-EJ-5498-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4e02da-87be-46e2-b4bd-555ca1440808	b8daddf3-4dbc-47b1-b5bf-777c46131bb8	g.chr6:31850727G>T	ENST00000375537.4	-	24	3060	c.3054C>A	c.(3052-3054)aaC>aaA	p.N1018K	EHMT2_ENST00000480912.1_5'UTR|EHMT2_ENST00000375530.4_Missense_Mutation_p.N984K|EHMT2_ENST00000395728.3_Missense_Mutation_p.N1075K|EHMT2-AS1_ENST00000434689.1_RNA|EHMT2_ENST00000375528.4_Missense_Mutation_p.N1041K	NM_006709.3	NP_006700.3	Q96KQ7	EHMT2_HUMAN	euchromatic histone-lysine N-methyltransferase 2	1018	Pre-SET. {ECO:0000255|PROSITE- ProRule:PRU00157}.				DNA methylation (GO:0006306)|DNA methylation on cytosine within a CG sequence (GO:0010424)|fertilization (GO:0009566)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|organ growth (GO:0035265)|peptidyl-lysine dimethylation (GO:0018027)|regulation of DNA replication (GO:0006275)|spermatid development (GO:0007286)|synaptonemal complex assembly (GO:0007130)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|histone methyltransferase activity (H3-K27 specific) (GO:0046976)|histone methyltransferase activity (H3-K9 specific) (GO:0046974)|histone-lysine N-methyltransferase activity (GO:0018024)|p53 binding (GO:0002039)|protein-lysine N-methyltransferase activity (GO:0016279)|zinc ion binding (GO:0008270)	p.N1018K(1)		central_nervous_system(1)|cervix(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)	21						AGCACGCCTGGTTACACTCGA	0.572																																						ENST00000395728.3																			1	Substitution - Missense(1)	p.N1018K(1)	prostate(1)	central_nervous_system(1)|cervix(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)	21						c.(3223-3225)aaC>aaA		euchromatic histone-lysine N-methyltransferase 2							73	73	73					6																	31850727		1511	2709	4220	SO:0001583	missense	10919				DNA methylation|peptidyl-lysine dimethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding	g.chr6:31850727G>T	AF134726	CCDS4725.1, CCDS4726.1, CCDS75425.1	6p21.3	2013-01-10	2004-03-22	2005-06-09	ENSG00000204371	ENSG00000204371	2.1.1.43	"Chromatin-modifying enzymes / K-methyltransferases", "Ankyrin repeat domain containing"	14129	protein-coding gene	gene with protein product		604599	"chromosome 6 open reading frame 30", "HLA-B associated transcript 8"	C6orf30, BAT8		8457211, 11316813	Standard	XM_005274833		Approved	G9A, Em:AF134726.3, NG36/G9a, KMT1C	uc003nxz.1	Q96KQ7	OTTHUMG00000031180	ENST00000375537.4:c.3054C>A	6.37:g.31850727G>T	ENSP00000364687:p.Asn1018Lys					EHMT2_ENST00000480912.1_5'UTR|EHMT2_ENST00000375530.4_Missense_Mutation_p.N984K|EHMT2_ENST00000375537.4_Missense_Mutation_p.N1018K|EHMT2_ENST00000375528.4_Missense_Mutation_p.N1041K	p.N1075K			Q96KQ7	EHMT2_HUMAN			23	3224	-			1018			Interaction with histone H3 (By similarity).|SET.		B0UZY2|Q14349|Q5JP83|Q5JQ92|Q5JQA1|Q5JQG3|Q6PK06|Q96MH5|Q96QD0|Q9UQL8|Q9Y331	Missense_Mutation	SNP	ENST00000375537.4	37	c.3225C>A	CCDS4725.1	.	.	.	.	.	.	.	.	.	.	G	19.93	3.917242	0.73098	.	.	ENSG00000204371	ENST00000395728;ENST00000375528;ENST00000375530;ENST00000375537;ENST00000442298	D;D;D;D	0.90620	-2.7;-2.7;-2.7;-2.7	4.24	3.38	0.38709	Pre-SET zinc-binding sub-group (1);Pre-SET domain (2);	0.000000	0.85682	D	0.000000	D	0.95582	0.8564	H	0.95574	3.69	0.58432	D	0.999996	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.996;0.996;0.999;0.999	D	0.95854	0.8877	10	0.87932	D	0	.	10.9563	0.47360	0.0932:0.0:0.9067:0.0	.	1041;984;1018;839	A2ABF8;Q96KQ7-2;Q96KQ7;Q59FM7	.;.;EHMT2_HUMAN;.	K	1075;1041;984;1018;839	ENSP00000379078:N1075K;ENSP00000364678:N1041K;ENSP00000364680:N984K;ENSP00000364687:N1018K	ENSP00000364678:N1041K	N	-	3	2	EHMT2	31958706	1.000000	0.71417	1.000000	0.80357	0.795000	0.44927	4.542000	0.60677	1.011000	0.39340	0.561000	0.74099	AAC		0.572	EHMT2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000076355.5	NM_006709		4	76	1	0	2.0095e-06	0.02938	2.28105e-06	4	76					T	31850727	G	T	31850727	3	4	48	1	0	0	0	0	1	0	0	0	4984	1252	44	5	598	5	EHMT2	6	31850727	Missense_Mutation	SNP	G	TCGA-EJ-5498-01A-01D-1576-08		31850727	139264340	18	2594											
KIAA0240	23506	broad.mit.edu	37	chr6	42824964	42824964	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccatgcccactgaagaagaCttgagaaaaggtaagcaggc	15	6	11	9	0	0	4	0	2	0	3	1	5	1	4	2	2	2	2	2	2	5	2			TCGA-EJ-5498-01A-01D-1576-08	TCGA-EJ-5498-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4e02da-87be-46e2-b4bd-555ca1440808	b8daddf3-4dbc-47b1-b5bf-777c46131bb8	g.chr6:42824964C>A	ENST00000314073.5	+	10	2420	c.2244C>A	c.(2242-2244)gaC>gaA	p.D748E	GLTSCR1L_ENST00000394168.1_Missense_Mutation_p.D748E			Q6AI39	GSC1L_HUMAN	GLTSCR1-like	748								p.D748E(1)									CTGAAGAAGACTTGAGAAAAG	0.542																																						ENST00000314073.5																			1	Substitution - Missense(1)	p.D748E(1)	prostate(1)								c.(2242-2244)gaC>gaA		GLTSCR1-like							145	127	133					6																	42824964		2203	4300	6503	SO:0001583	missense	23506							g.chr6:42824964C>A	AL833540	CCDS34451.1	6p21.1	2012-11-29	2012-11-29	2012-11-29	ENSG00000112624	ENSG00000112624			21111	protein-coding gene	gene with protein product			"KIAA0240"	KIAA0240			Standard	XM_005248972		Approved		uc003osp.1	Q6AI39	OTTHUMG00000014706	ENST00000314073.5:c.2244C>A	6.37:g.42824964C>A	ENSP00000313933:p.Asp748Glu					GLTSCR1L_ENST00000394168.1_Missense_Mutation_p.D748E	p.D748E							10	2420	+								A1L3W2|Q5TFZ3|Q92514	Missense_Mutation	SNP	ENST00000314073.5	37	c.2244C>A	CCDS34451.1	.	.	.	.	.	.	.	.	.	.	C	15.24	2.775456	0.49786	.	.	ENSG00000112624	ENST00000394167;ENST00000536004;ENST00000314073;ENST00000394168	T;T	0.56444	0.46;0.46	5.87	3.87	0.44632	.	0.000000	0.64402	D	0.000001	T	0.19046	0.0457	N	0.20766	0.605	0.33231	D	0.555888	B	0.12013	0.005	B	0.19666	0.026	T	0.07809	-1.0753	10	0.62326	D	0.03	-11.5146	7.1354	0.25525	0.0:0.69:0.0:0.31	.	748	Q6AI39	K0240_HUMAN	E	748	ENSP00000313933:D748E;ENSP00000377723:D748E	ENSP00000313933:D748E	D	+	3	2	KIAA0240	42932942	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	1.233000	0.32648	1.517000	0.48917	0.650000	0.86243	GAC		0.542	GLTSCR1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040562.3	NM_015349		20	131	1	0	4.96729e-08	0.049695	5.79517e-08	20	131					A	42824964	C	A	42824964	3	1	48	1	0	0	0	0	1	0	0	0	8164	564	20	5	2274	5	KIAA0240	6	42824964	Missense_Mutation	SNP	C	TCGA-EJ-5498-01A-01D-1576-08	10974237	42824964	128290103	19	2595											
TAAR9	134860	broad.mit.edu	37	chr6	132859537	132859537	+	RNA	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcctcgatctatcctctacGccgtccttggttttggggct	3	15	10	13	3	2	0	0	0	2	0	6	1	5	0	4	3	1	2	4	3	2	5			TCGA-EJ-5498-01A-01D-1576-08	TCGA-EJ-5498-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4e02da-87be-46e2-b4bd-555ca1440808	b8daddf3-4dbc-47b1-b5bf-777c46131bb8	g.chr6:132859537G>A	ENST00000434551.1	+	0	109					NM_175057.3	NP_778227.3	Q96RI9	TAAR9_HUMAN	trace amine associated receptor 9 (gene/pseudogene)						G-protein coupled receptor signaling pathway (GO:0007186)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|trace-amine receptor activity (GO:0001594)	p.A37T(1)				Breast(56;0.112)			OV - Ovarian serous cystadenocarcinoma(155;0.0042)|GBM - Glioblastoma multiforme(226;0.00816)		TATCCTCTACGCCGTCCTTGG	0.478																																					Colon(10;433 445 15992 45047 47213)	ENST00000434551.1																			1	Substitution - Missense(1)	p.A37T(1)	prostate(1)										trace amine associated receptor 9 (gene/pseudogene)							122	120	121					6																	132859537		2040	4223	6263			134860					plasma membrane	G-protein coupled receptor activity	g.chr6:132859537G>A	AF380189	CCDS75520.1	6q23.2	2013-10-02	2010-03-12	2005-02-24	ENSG00000237110	ENSG00000237110		"GPCR / Class A : Trace amine associated receptors"	20977	protein-coding gene	gene with protein product		608282	"trace amine receptor 3", "trace amine associated receptor 9"	TRAR3		15718104	Standard	NM_175057		Approved	TA3, TAR3	uc011eci.2	Q96RI9	OTTHUMG00000015578		6.37:g.132859537G>A								NM_175057.3	NP_778227.3	Q96RI9	TAAR9_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.0042)|GBM - Glioblastoma multiforme(226;0.00816)	0	109	+	Breast(56;0.112)								RNA	SNP	ENST00000434551.1	37																																																																																						0.478	TAAR9-001	KNOWN	mRNA_end_NF|cds_end_NF|basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000042254.2	NM_175057		12	63	0	0	0	0.105934	0	12	63					A	132859537	G	A	132859537	1	1	48	0	1	0	0	0	0	0	0	0	15491	1087	38	1		1	TAAR9	6	132859537	RNA	SNP	G	TCGA-EJ-5498-01A-01D-1576-08	90034573	132859537	38255530	20	2596											
ABCA13	154664	broad.mit.edu	37	chr7	48327660	48327660	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atacaaggggtcactttggcGcaggaccacttccaggtttg	9	10	12	10	1	1	0	1	0	0	0	2	1	2	1	2	5	1	2	2	5	2	4			TCGA-EJ-5498-01A-01D-1576-08	TCGA-EJ-5498-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4e02da-87be-46e2-b4bd-555ca1440808	b8daddf3-4dbc-47b1-b5bf-777c46131bb8	g.chr7:48327660G>A	ENST00000435803.1	+	20	8964	c.8940G>A	c.(8938-8940)gcG>gcA	p.A2980A		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	2980					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)	p.A2980A(2)|p.A2925A(1)		breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						TCACTTTGGCGCAGGACCACT	0.438																																						ENST00000435803.1																			3	Substitution - coding silent(3)	p.A2980A(2)|p.A2925A(1)	prostate(3)	breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						c.(8938-8940)gcG>gcA		ATP-binding cassette, sub-family A (ABC1), member 13							146	144	144					7																	48327660		1873	4104	5977	SO:0001819	synonymous_variant	154664				transport	integral to membrane	ATP binding|ATPase activity	g.chr7:48327660G>A	AY204751	CCDS47584.1	7p12.3	2012-03-14			ENSG00000179869	ENSG00000179869		"ATP binding cassette transporters / subfamily A"	14638	protein-coding gene	gene with protein product		607807				12697998	Standard	NM_152701		Approved	FLJ33876, FLJ33951	uc003toq.2	Q86UQ4	OTTHUMG00000155840	ENST00000435803.1:c.8940G>A	7.37:g.48327660G>A							p.A2980A	NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN			20	8964	+			2980					K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Silent	SNP	ENST00000435803.1	37	c.8940G>A	CCDS47584.1																																																																																				0.438	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341964.2	NM_152701		55	221	0	0	0	0.139131	0	55	221					A	48327660	G	A	48327660	2	1	48	1	0	0	0	0	0	0	0	1	31	1074	38	1		1	ABCA13	7	48327660	Silent	SNP	G	TCGA-EJ-5498-01A-01D-1576-08		48327660	110811003	21	2597											
PON1	5444	broad.mit.edu	37	chr7	94940824	94940824	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cgatttttcttcttcttgaaAtttaaacaactccactgtgg	10	17	5	9	1	3	1	0	1	3	0	4	2	4	1	1	1	2	0	1	1	4	7			TCGA-EJ-5498-01A-01D-1576-08	TCGA-EJ-5498-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4e02da-87be-46e2-b4bd-555ca1440808	b8daddf3-4dbc-47b1-b5bf-777c46131bb8	g.chr7:94940824A>C	ENST00000222381.3	-	5	667	c.436T>G	c.(436-438)Ttt>Gtt	p.F146V	PON1_ENST00000542556.1_Missense_Mutation_p.F146V	NM_000446.5	NP_000437.3	P27169	PON1_HUMAN	paraoxonase 1	146					aromatic compound catabolic process (GO:0019439)|carboxylic acid catabolic process (GO:0046395)|dephosphorylation (GO:0016311)|organophosphate catabolic process (GO:0046434)|phosphatidylcholine metabolic process (GO:0046470)|positive regulation of binding (GO:0051099)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of transporter activity (GO:0032411)|response to external stimulus (GO:0009605)|response to toxic substance (GO:0009636)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|high-density lipoprotein particle (GO:0034364)|intracellular membrane-bounded organelle (GO:0043231)|spherical high-density lipoprotein particle (GO:0034366)	aryldialkylphosphatase activity (GO:0004063)|arylesterase activity (GO:0004064)|calcium ion binding (GO:0005509)|phospholipid binding (GO:0005543)|protein homodimerization activity (GO:0042803)	p.F146V(1)		autonomic_ganglia(1)|endometrium(2)|large_intestine(6)|lung(11)|pancreas(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	27	all_cancers(62;1.04e-10)|all_epithelial(64;3.67e-09)|Lung NSC(181;0.239)		STAD - Stomach adenocarcinoma(171;0.0031)		Cefazolin(DB01327)	TCTTCTTGAAATTTAAACAAC	0.353																																					GBM(119;715 1622 17358 22490 33240)	ENST00000222381.3																			1	Substitution - Missense(1)	p.F146V(1)	prostate(1)	autonomic_ganglia(1)|endometrium(2)|large_intestine(6)|lung(11)|pancreas(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	27						c.(436-438)Ttt>Gtt		paraoxonase 1	Atorvastatin(DB01076)|Cefazolin(DB01327)						164	156	159					7																	94940824		2203	4300	6503	SO:0001583	missense	5444				aromatic compound catabolic process|carboxylic acid catabolic process|organophosphate catabolic process|phosphatidylcholine metabolic process|positive regulation of binding|positive regulation of cholesterol efflux|positive regulation of transporter activity|response to external stimulus	spherical high-density lipoprotein particle	aryldialkylphosphatase activity|arylesterase activity|calcium ion binding|phospholipid binding|protein homodimerization activity	g.chr7:94940824A>C	AF539592	CCDS5638.1	7q21.3	2014-03-14			ENSG00000005421	ENSG00000005421	3.1.1.2	"Paraoxonases"	9204	protein-coding gene	gene with protein product	"esterase A", "arylesterase 1"	168820		PON		8661009, 15450851	Standard	NM_000446		Approved	ESA	uc003uns.3	P27169	OTTHUMG00000153894	ENST00000222381.3:c.436T>G	7.37:g.94940824A>C	ENSP00000222381:p.Phe146Val					PON1_ENST00000542556.1_Missense_Mutation_p.F146V	p.F146V	NM_000446.5	NP_000437.3	P27169	PON1_HUMAN	STAD - Stomach adenocarcinoma(171;0.0031)		5	667	-	all_cancers(62;1.04e-10)|all_epithelial(64;3.67e-09)|Lung NSC(181;0.239)		146					B2RA40|Q16052|Q6B0J6|Q9UCB1	Missense_Mutation	SNP	ENST00000222381.3	37	c.436T>G	CCDS5638.1	.	.	.	.	.	.	.	.	.	.	A	23.5	4.418233	0.83449	.	.	ENSG00000005421	ENST00000222381;ENST00000542556	T;T	0.40476	1.03;1.03	4.64	4.64	0.57946	Six-bladed beta-propeller, TolB-like (1);	0.049856	0.85682	D	0.000000	T	0.63010	0.2475	M	0.73319	2.225	0.80722	D	1	D;D	0.76494	0.999;0.998	D;D	0.79784	0.993;0.984	T	0.67917	-0.5546	10	0.87932	D	0	-23.3323	14.5299	0.67917	1.0:0.0:0.0:0.0	.	146;146	F5H4W9;P27169	.;PON1_HUMAN	V	146	ENSP00000222381:F146V;ENSP00000444854:F146V	ENSP00000222381:F146V	F	-	1	0	PON1	94778760	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	8.294000	0.89934	2.096000	0.63516	0.533000	0.62120	TTT		0.353	PON1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000332865.2	NM_000446		34	177	0	0	0	0.050027	0	34	177					C	94940824	A	C	94940824	3	2	48	1	0	0	0	0	1	0	0	0	12248	101	4	5	651	5	PON1	7	94940824	Missense_Mutation	SNP	A	TCGA-EJ-5498-01A-01D-1576-08	46613164	94940824	64197839	22	2598											
PIK3CG	5294	broad.mit.edu	37	chr7	106524649	106524649	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcctgtgcaggctactgtgTggcaacctttgttcttggaa	6	15	11	9	0	1	0	0	0	1	0	2	1	2	1	2	3	3	4	2	3	3	5			TCGA-EJ-5498-01A-01D-1576-08	TCGA-EJ-5498-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4e02da-87be-46e2-b4bd-555ca1440808	b8daddf3-4dbc-47b1-b5bf-777c46131bb8	g.chr7:106524649T>C	ENST00000359195.3	+	9	3120	c.2810T>C	c.(2809-2811)gTg>gCg	p.V937A	PIK3CG_ENST00000440650.2_Missense_Mutation_p.V937A|PIK3CG_ENST00000496166.1_Missense_Mutation_p.V937A	NM_001282427.1|NM_002649.2	NP_001269356.1|NP_002640.2	P48736	PK3CG_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma	937	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.				adaptive immune response (GO:0002250)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cytokine production (GO:0001816)|dendritic cell chemotaxis (GO:0002407)|endocytosis (GO:0006897)|G-protein coupled receptor signaling pathway (GO:0007186)|hepatocyte apoptotic process (GO:0097284)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|mast cell degranulation (GO:0043303)|natural killer cell chemotaxis (GO:0035747)|negative regulation of cardiac muscle contraction (GO:0055118)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of triglyceride catabolic process (GO:0010897)|neutrophil chemotaxis (GO:0030593)|neutrophil extravasation (GO:0072672)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of cell adhesion mediated by integrin (GO:0033628)|respiratory burst involved in defense response (GO:0002679)|secretory granule localization (GO:0032252)|small molecule metabolic process (GO:0044281)|T cell activation (GO:0042110)|T cell chemotaxis (GO:0010818)|T cell proliferation (GO:0042098)	1-phosphatidylinositol-4-phosphate 3-kinase, class IB complex (GO:0005944)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|mast cell granule (GO:0042629)|membrane (GO:0016020)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|ephrin receptor binding (GO:0046875)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V937A(2)		breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						GGCTACTGTGTGGCAACCTTT	0.368																																						ENST00000359195.3																			2	Substitution - Missense(2)	p.V937A(2)	prostate(2)	breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						c.(2809-2811)gTg>gCg		phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma							184	181	182					7																	106524649		2203	4300	6503	SO:0001583	missense	5294				G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding	g.chr7:106524649T>C		CCDS5739.1	7q22	2012-07-13	2012-07-13		ENSG00000105851	ENSG00000105851	2.7.1.153		8978	protein-coding gene	gene with protein product		601232	"phosphoinositide-3-kinase, catalytic, gamma polypeptide"				Standard	XM_005250443		Approved		uc003vdw.3	P48736	OTTHUMG00000157641	ENST00000359195.3:c.2810T>C	7.37:g.106524649T>C	ENSP00000352121:p.Val937Ala					PIK3CG_ENST00000496166.1_Missense_Mutation_p.V937A|PIK3CG_ENST00000440650.2_Missense_Mutation_p.V937A	p.V937A	NM_002649.2	NP_002640.2	P48736	PK3CG_HUMAN			9	3120	+			937			PI3K/PI4K.		A4D0Q6|Q8IV23|Q9BZC8	Missense_Mutation	SNP	ENST00000359195.3	37	c.2810T>C	CCDS5739.1	.	.	.	.	.	.	.	.	.	.	T	26.8	4.770564	0.90108	.	.	ENSG00000105851	ENST00000440650;ENST00000496166;ENST00000359195	T;T;T	0.81247	-1.47;-1.47;-1.47	5.05	5.05	0.67936	Protein kinase-like domain (1);Phosphatidylinositol 3/4-kinase, conserved site (1);Phosphatidylinositol 3-/4-kinase, catalytic (4);	0.113857	0.64402	D	0.000015	D	0.89444	0.6717	M	0.83603	2.65	0.80722	D	1	D	0.64830	0.994	D	0.65874	0.939	D	0.91184	0.4978	10	0.87932	D	0	-24.5951	14.9476	0.71044	0.0:0.0:0.0:1.0	.	937	P48736	PK3CG_HUMAN	A	937	ENSP00000392258:V937A;ENSP00000419260:V937A;ENSP00000352121:V937A	ENSP00000352121:V937A	V	+	2	0	PIK3CG	106311885	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.818000	0.86416	2.100000	0.63781	0.533000	0.62120	GTG		0.368	PIK3CG-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349294.1			48	267	0	0	0	0.139131	0	48	267					C	106524649	T	C	106524649	3	2	48	1	0	0	0	0	1	0	0	0	11916	1696	59	4	2840	4	PIK3CG	7	106524649	Missense_Mutation	SNP	T	TCGA-EJ-5498-01A-01D-1576-08	11583825	106524649	52614014	23	2599											
FEZF1	389549	broad.mit.edu	37	chr7	121943288	121943288	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcttgcctgaaaccttttccGcacactttgcaaacgaaggg	10	10	9	12	2	0	1	0	1	0	0	1	2	1	1	3	1	4	3	3	1	3	4			TCGA-EJ-5498-01A-01D-1576-08	TCGA-EJ-5498-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4e02da-87be-46e2-b4bd-555ca1440808	b8daddf3-4dbc-47b1-b5bf-777c46131bb8	g.chr7:121943288G>A	ENST00000442488.2	-	2	946	c.879C>T	c.(877-879)tgC>tgT	p.C293C	FEZF1-AS1_ENST00000428449.1_RNA|FEZF1_ENST00000331178.4_Silent_p.C289C|FEZF1_ENST00000427185.2_Silent_p.C243C|FEZF1-AS1_ENST00000437317.1_RNA	NM_001024613.2|NM_001160264.1	NP_001019784.2|NP_001153736.1	A0PJY2	FEZF1_HUMAN	FEZ family zinc finger 1	293					axon guidance (GO:0007411)|forebrain anterior/posterior pattern specification (GO:0021797)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|olfactory bulb development (GO:0021772)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)	p.C293C(1)|p.C289C(1)		breast(1)|large_intestine(3)|lung(18)|ovary(2)|prostate(1)	25						AACCTTTTCCGCACACTTTGC	0.463																																						ENST00000442488.2																			2	Substitution - coding silent(2)	p.C293C(1)|p.C289C(1)	prostate(2)	breast(1)|large_intestine(3)|lung(18)|ovary(2)|prostate(1)	25						c.(877-879)tgC>tgT		FEZ family zinc finger 1							143	135	138					7																	121943288		2203	4300	6503	SO:0001819	synonymous_variant	389549				cell differentiation|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:121943288G>A	AY726588	CCDS34741.1, CCDS34741.2, CCDS55157.1	7q31.32	2013-01-08	2006-08-15	2006-08-15	ENSG00000128610	ENSG00000128610		"Zinc fingers, C2H2-type"	22788	protein-coding gene	gene with protein product		613301	"zinc finger protein 312B"	ZNF312B			Standard	NM_001024613		Approved		uc003vkd.3	A0PJY2	OTTHUMG00000157091	ENST00000442488.2:c.879C>T	7.37:g.121943288G>A						FEZF1_ENST00000331178.4_Silent_p.C289C|FEZF1_ENST00000427185.2_Silent_p.C243C	p.C293C	NM_001024613.2|NM_001160264.1	NP_001019784.2|NP_001153736.1	A0PJY2	FEZF1_HUMAN			2	946	-			293					A0PJY3|A4D0W3|B4DUP9|B7ZM98	Silent	SNP	ENST00000442488.2	37	c.879C>T	CCDS34741.2																																																																																				0.463	FEZF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347410.1	NM_001024613		25	134	0	0	0	0.099896	0	25	134					A	121943288	G	A	121943288	2	1	48	1	0	0	0	0	0	0	0	1	5825	1079	38	1		1	FEZF1	7	121943288	Silent	SNP	G	TCGA-EJ-5498-01A-01D-1576-08	15418639	121943288	37195375	24	2600											
SSPO	23145	broad.mit.edu	37	chr7	149493511	149493511	+	RNA	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgccgtatggactttcggccGcatggtgcaggcgaggtttg	5	11	16	9	4	0	0	0	0	0	0	1	2	0	1	2	5	2	4	2	5	1	3	rs569350279		TCGA-EJ-5498-01A-01D-1576-08	TCGA-EJ-5498-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4e02da-87be-46e2-b4bd-555ca1440808	b8daddf3-4dbc-47b1-b5bf-777c46131bb8	g.chr7:149493511G>A	ENST00000378016.2	+	0	6587							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion (GO:0007155)	extracellular space (GO:0005615)	peptidase inhibitor activity (GO:0030414)					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			ACTTTCGGCCGCATGGTGCAG	0.607													G|||	1	0.000199681	8e-04	0	5008	,	,		19119	0		0	False		,,,				2504	0					ENST00000378016.2																			0													SCO-spondin							98	113	108					7																	149493511		2143	4242	6385			23145				cell adhesion	extracellular space	peptidase inhibitor activity	g.chr7:149493511G>A	AK093431		7q36.1	2013-08-07	2013-08-06		ENSG00000197558	ENSG00000197558			21998	protein-coding gene	gene with protein product	"subcommissural organ spondin", "SCO protein, thrombospondin domain containing"		"SCO-spondin homolog (Bos taurus)"			8743952, 11008217	Standard	NM_198455		Approved	SCO-spondin, KIAA0543, FLJ36112	uc010lpk.3	A2VEC9	OTTHUMG00000157884		7.37:g.149493511G>A										A2VEC9	SSPO_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00625)		0	6587	+	Melanoma(164;0.165)|Ovarian(565;0.177)							Q76B61	RNA	SNP	ENST00000378016.2	37																																																																																						0.607	SSPO-202	KNOWN	basic	processed_transcript	processed_transcript				4	155	0	0	0	0.014758	0	4	155					A	149493511	G	A	149493511	1	1	48	0	1	0	0	0	0	0	0	0	15188	1087	38	1		1	SSPO	7	149493511	RNA	SNP	G	TCGA-EJ-5498-01A-01D-1576-08	27550223	149493511	9645152	25	2601											
RP1	6101	broad.mit.edu	37	chr8	55537506	55537506	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atggacaactactgtcagtaAaactggtccttctaataatg	14	12	7	8	0	2	0	1	0	1	0	3	1	3	1	1	2	3	1	1	2	6	5			TCGA-EJ-5498-01A-01D-1576-08	TCGA-EJ-5498-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4e02da-87be-46e2-b4bd-555ca1440808	b8daddf3-4dbc-47b1-b5bf-777c46131bb8	g.chr8:55537506A>T	ENST00000220676.1	+	4	1212	c.1064A>T	c.(1063-1065)aAa>aTa	p.K355I		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	355					axoneme assembly (GO:0035082)|cellular response to light stimulus (GO:0071482)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|photoreceptor cell outer segment organization (GO:0035845)|phototransduction, visible light (GO:0007603)|retinal cone cell development (GO:0046549)|retinal rod cell development (GO:0046548)|visual perception (GO:0007601)	axoneme (GO:0005930)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)	microtubule binding (GO:0008017)	p.K355I(1)		NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			ACTGTCAGTAAAACTGGTCCT	0.353																																					Colon(91;1014 1389 7634 14542 40420)	ENST00000220676.1																			1	Substitution - Missense(1)	p.K355I(1)	prostate(1)	NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169						c.(1063-1065)aAa>aTa		retinitis pigmentosa 1 (autosomal dominant)							61	58	59					8																	55537506		2203	4300	6503	SO:0001583	missense	6101				axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding	g.chr8:55537506A>T	AF146592	CCDS6160.1	8q12.1	2013-01-08				ENSG00000104237			10263	protein-coding gene	gene with protein product		603937				1783394	Standard	NM_006269		Approved	DCDC4A	uc003xsd.1	P56715		ENST00000220676.1:c.1064A>T	8.37:g.55537506A>T	ENSP00000220676:p.Lys355Ile						p.K355I	NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)		4	1212	+		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	355						Missense_Mutation	SNP	ENST00000220676.1	37	c.1064A>T	CCDS6160.1	.	.	.	.	.	.	.	.	.	.	A	13.61	2.290038	0.40494	.	.	ENSG00000104237	ENST00000220676	T	0.26373	1.74	5.08	3.19	0.36642	.	0.207915	0.32175	N	0.006477	T	0.16727	0.0402	L	0.29908	0.895	0.32202	N	0.577742	P	0.45283	0.855	B	0.38327	0.271	T	0.16041	-1.0416	10	0.87932	D	0	.	8.3294	0.32178	0.0899:0.1585:0.7516:0.0	.	355	P56715	RP1_HUMAN	I	355	ENSP00000220676:K355I	ENSP00000220676:K355I	K	+	2	0	RP1	55700059	1.000000	0.71417	0.997000	0.53966	0.629000	0.37895	5.269000	0.65542	0.461000	0.27071	0.533000	0.62120	AAA		0.353	RP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378532.2	NM_006269		10	60	0	0	0	0.058154	0	10	60					T	55537506	A	T	55537506	3	4	48	1	0	0	0	0	1	0	0	0	13532	14	1	5	1074	5	RP1	8	55537506	Missense_Mutation	SNP	A	TCGA-EJ-5498-01A-01D-1576-08		55537506	90826516	26	2602											
C8orf45	157777	broad.mit.edu	37	chr8	67809157	67809157	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcctgaagggctgttttatgCggcttctagacagttcacaa	9	13	10	9	1	2	2	1	1	1	1	3	2	3	2	1	2	1	4	1	2	4	5	rs142662778		TCGA-EJ-5498-01A-01D-1576-08	TCGA-EJ-5498-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4e02da-87be-46e2-b4bd-555ca1440808	b8daddf3-4dbc-47b1-b5bf-777c46131bb8	g.chr8:67809157C>T	ENST00000422365.2	+	12	1760	c.1589C>T	c.(1588-1590)gCg>gTg	p.A530V	MCMDC2_ENST00000313616.5_Missense_Mutation_p.A530V|MCMDC2_ENST00000396592.3_Missense_Mutation_p.A530V|MCMDC2_ENST00000541540.1_Missense_Mutation_p.A467V	NM_173518.4	NP_775789.3	Q4G0Z9	MCMD2_HUMAN	minichromosome maintenance domain containing 2	530					DNA replication (GO:0006260)		ATP binding (GO:0005524)|DNA binding (GO:0003677)	p.A525V(1)|p.A530V(1)		endometrium(2)|kidney(2)|lung(5)	9						CTGTTTTATGCGGCTTCTAGA	0.398																																						ENST00000422365.2																			2	Substitution - Missense(2)	p.A525V(1)|p.A530V(1)	prostate(2)	endometrium(2)|kidney(2)|lung(5)	9						c.(1588-1590)gCg>gTg		minichromosome maintenance domain containing 2		C	VAL/ALA,VAL/ALA,VAL/ALA	0,4406		0,0,2203	106	106	106		1589,1589,1589	1.5	0.5	8	dbSNP_134	106	14,8586	10.5+/-38.8	0,14,4286	no	missense,missense,missense	C8orf45	NM_001136160.1,NM_001136161.1,NM_173518.4	64,64,64	0,14,6489	TT,TC,CC		0.1628,0.0,0.1076	benign,benign,benign	530/633,530/591,530/682	67809157	14,12992	2203	4300	6503	SO:0001583	missense	157777				DNA replication		ATP binding|DNA binding	g.chr8:67809157C>T	BC034576	CCDS6197.2, CCDS47868.1, CCDS47869.1	8q13.1	2012-04-13	2012-04-13	2012-04-13	ENSG00000178460	ENSG00000178460			26368	protein-coding gene	gene with protein product			"chromosome 8 open reading frame 45"	C8orf45			Standard	NM_173518		Approved	FLJ25692	uc003xwz.4	Q4G0Z9	OTTHUMG00000157068	ENST00000422365.2:c.1589C>T	8.37:g.67809157C>T	ENSP00000413632:p.Ala530Val					MCMDC2_ENST00000396592.3_Missense_Mutation_p.A530V|MCMDC2_ENST00000541540.1_Missense_Mutation_p.A467V|MCMDC2_ENST00000313616.5_Missense_Mutation_p.A530V	p.A530V	NM_173518.4	NP_775789.3	Q4G0Z9	CH045_HUMAN			12	1760	+			530					B4DYZ3|B4DZM4|B4E293|Q6P533|Q7Z3P4	Missense_Mutation	SNP	ENST00000422365.2	37	c.1589C>T	CCDS6197.2	.	.	.	.	.	.	.	.	.	.	C	4.025	0.002125	0.07819	0.0	0.001628	ENSG00000178460	ENST00000396592;ENST00000422365;ENST00000313616;ENST00000541540	T;T;T;T	0.28454	1.61;1.61;1.61;1.61	5.51	1.54	0.23209	.	1.248780	0.05550	N	0.567349	T	0.13670	0.0331	N	0.08118	0	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.28427	-1.0044	10	0.27082	T	0.32	-0.3643	0.4206	0.00455	0.2537:0.2452:0.1256:0.3755	.	467;530;530	Q4G0Z9-4;Q4G0Z9;B4DXX4	.;CH045_HUMAN;.	V	530;530;530;467	ENSP00000379837:A530V;ENSP00000413632:A530V;ENSP00000317234:A530V;ENSP00000445629:A467V	ENSP00000317234:A530V	A	+	2	0	C8orf45	67971711	0.022000	0.18835	0.474000	0.27266	0.010000	0.07245	0.785000	0.26830	1.029000	0.39812	-0.300000	0.09419	GCG		0.398	MCMDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347350.1	NM_173518		5	269	0	0	0	0.021553	0	5	269					T	67809157	C	T	67809157	3	4	48	1	0	0	0	0	1	0	0	0	2430	768	27	1	1631	1	C8orf45	8	67809157	Missense_Mutation	SNP	C	TCGA-EJ-5498-01A-01D-1576-08	12271651	67809157	78554865	27	2603											
LCN12	286256	broad.mit.edu	37	chr9	139847394	139847394	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcgggcaacagcttcaggccGgagcacagggcgctgctgaa	9	4	16	12	3	1	1	1	1	0	0	1	2	1	2	1	4	4	5	1	4	2	1	rs62580418		TCGA-EJ-5498-01A-01D-1576-08	TCGA-EJ-5498-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4e02da-87be-46e2-b4bd-555ca1440808	b8daddf3-4dbc-47b1-b5bf-777c46131bb8	g.chr9:139847394G>A	ENST00000371633.3	+	2	165	c.165G>A	c.(163-165)ccG>ccA	p.P55P		NM_178536.3	NP_848631.2	Q6JVE5	LCN12_HUMAN	lipocalin 12	55					lipid metabolic process (GO:0006629)	extracellular region (GO:0005576)	retinoic acid binding (GO:0001972)|transporter activity (GO:0005215)	p.P55P(1)		endometrium(1)|kidney(1)|lung(1)|prostate(2)	5	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.19)	OV - Ovarian serous cystadenocarcinoma(145;7.8e-06)|Epithelial(140;0.000106)		GCTTCAGGCCGGAGCACAGGG	0.637																																						ENST00000371633.3																			1	Substitution - coding silent(1)	p.P55P(1)	prostate(1)	endometrium(1)|kidney(1)|lung(1)|prostate(2)	5						c.(163-165)ccG>ccA		lipocalin 12							110	127	121					9																	139847394		2155	4242	6397	SO:0001819	synonymous_variant	286256				lipid metabolic process	extracellular region	binding|transporter activity	g.chr9:139847394G>A	BC041168	CCDS7018.2	9q34	2011-10-24	2007-12-18		ENSG00000184925	ENSG00000184925		"Lipocalins"	28733	protein-coding gene	gene with protein product		612905				15363845	Standard	XM_005266068		Approved	MGC48935	uc004ckb.3	Q6JVE5	OTTHUMG00000020968	ENST00000371633.3:c.165G>A	9.37:g.139847394G>A							p.P55P	NM_178536.3	NP_848631.2	Q6JVE5	LCN12_HUMAN	STAD - Stomach adenocarcinoma(284;0.19)	OV - Ovarian serous cystadenocarcinoma(145;7.8e-06)|Epithelial(140;0.000106)	2	165	+	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0511)	55					A2AMJ7	Silent	SNP	ENST00000371633.3	37	c.165G>A	CCDS7018.2																																																																																				0.637	LCN12-015	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257990.1	NM_178536		39	233	0	0	0	0.104719	0	39	233					A	139847394	G	A	139847394	2	1	48	1	0	0	0	0	0	0	0	1	8682	1103	39	2		2	LCN12	9	139847394	Silent	SNP	G	TCGA-EJ-5498-01A-01D-1576-08		139847394	1366037	28	2604											
MLLT10	8028	broad.mit.edu	37	chr10	21962615	21962615	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tggcatagaagaagaaactgTaaaggaaaagaaaaggaaag	23	4	12	2	0	0	4	0	0	0	4	0	6	0	6	0	3	1	2	0	3	11	2			TCGA-EJ-5498-01A-01D-1576-08	TCGA-EJ-5498-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4e02da-87be-46e2-b4bd-555ca1440808	b8daddf3-4dbc-47b1-b5bf-777c46131bb8	g.chr10:21962615T>A	ENST00000307729.7	+	11	1566	c.1388T>A	c.(1387-1389)gTa>gAa	p.V463E	MLLT10_ENST00000377059.3_Missense_Mutation_p.V463E|MLLT10_ENST00000377072.3_Missense_Mutation_p.V463E|MLLT10_ENST00000446906.2_Missense_Mutation_p.V463E			P55197	AF10_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 10	463	DNA-binding.				positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.V463E(2)		NS(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6						GAAGAAACTGTAAAGGAAAAG	0.398			T	"MLL, PICALM, CDK6"	AL																																	ENST00000377072.3				Dom	yes		10	10p12	8028	T	"myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 10 (AF10)"			L	"MLL, PICALM, CDK6"		AL		2	Substitution - Missense(2)	p.V463E(2)	prostate(2)	NS(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6						c.(1387-1389)gTa>gAa		myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 10							102	112	108					10																	21962615		2203	4300	6503	SO:0001583	missense	8028				positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr10:21962615T>A	U13948	CCDS7135.1, CCDS55706.1, CCDS55707.1, CCDS55708.1	10p12	2013-01-28	2001-11-28		ENSG00000078403	ENSG00000078403		"Zinc fingers, PHD-type"	16063	protein-coding gene	gene with protein product		602409	"myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 10"			7888665	Standard	NM_004641		Approved	AF10	uc021pny.1	P55197	OTTHUMG00000017799	ENST00000307729.7:c.1388T>A	10.37:g.21962615T>A	ENSP00000307411:p.Val463Glu					MLLT10_ENST00000377059.3_Missense_Mutation_p.V463E|MLLT10_ENST00000307729.7_Missense_Mutation_p.V463E|MLLT10_ENST00000446906.2_Missense_Mutation_p.V463E	p.V463E	NM_004641.3	NP_004632.1	P55197	AF10_HUMAN			11	1736	+			463			DNA-binding.		B1ANA8|Q5JT37|Q5VX90|Q66K63	Missense_Mutation	SNP	ENST00000307729.7	37	c.1388T>A	CCDS55708.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	21.5|21.5	4.158125|4.158125	0.78114|0.78114	.|.	.|.	ENSG00000078403|ENSG00000078403	ENST00000377072;ENST00000446906;ENST00000307729;ENST00000396529;ENST00000377059;ENST00000438473;ENST00000538639|ENST00000420525	T;T;T;T|.	0.17213|.	2.29;2.3;2.29;2.3|.	5.36|5.36	5.36|5.36	0.76844|0.76844	.|.	0.124593|.	0.53938|.	D|.	0.000047|.	T|.	0.63977|.	0.2557|.	L|L	0.50333|0.50333	1.59|1.59	0.80722|0.80722	D|D	1|1	D;D;P;D|.	0.62365|.	0.978;0.988;0.91;0.991|.	P;P;P;P|.	0.57620|.	0.732;0.771;0.502;0.824|.	T|.	0.61850|.	-0.6978|.	10|.	0.56958|.	D|.	0.05|.	.|.	15.3441|15.3441	0.74320|0.74320	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	309;463;463;463|.	F5H541;E9PBP4;Q5VX90;P55197|.	.;.;.;AF10_HUMAN|.	E|K	463;463;463;309;463;106;105|37	ENSP00000366272:V463E;ENSP00000401406:V463E;ENSP00000307411:V463E;ENSP00000366258:V463E|.	ENSP00000307411:V463E|.	V|X	+|+	2|1	0|0	MLLT10|MLLT10	22002621|22002621	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	6.181000|6.181000	0.71988|0.71988	2.046000|2.046000	0.60703|0.60703	0.477000|0.477000	0.44152|0.44152	GTA|TAA		0.398	MLLT10-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047136.1			7	340	0	0	0	0.02938	0	7	340					A	21962615	T	A	21962615	3	1	48	1	0	0	0	0	1	0	0	0	9626	1638	57	5	1426	5	MLLT10	10	21962615	Missense_Mutation	SNP	T	TCGA-EJ-5498-01A-01D-1576-08		21962615	113572132	29	2605											
SORCS3	22986	broad.mit.edu	37	chr10	106974254	106974254	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gggctaagggagaagtacacCgccaaggcccagatgtgccc	11	4	14	12	1	0	2	0	0	0	2	0	3	0	2	4	3	2	2	4	3	4	2			TCGA-EJ-5498-01A-01D-1576-08	TCGA-EJ-5498-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4e02da-87be-46e2-b4bd-555ca1440808	b8daddf3-4dbc-47b1-b5bf-777c46131bb8	g.chr10:106974254C>T	ENST00000369701.3	+	18	2657	c.2430C>T	c.(2428-2430)acC>acT	p.T810T	SORCS3_ENST00000369699.4_Silent_p.T96T	NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	810					learning (GO:0007612)|memory (GO:0007613)|neuropeptide signaling pathway (GO:0007218)|regulation of long term synaptic depression (GO:1900452)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|neuronal postsynaptic density (GO:0097481)	neuropeptide receptor activity (GO:0008188)	p.T810T(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		AGAAGTACACCGCCAAGGCCC	0.537																																					NSCLC(116;1497 1690 7108 13108 14106)	ENST00000369701.3																			1	Substitution - coding silent(1)	p.T810T(1)	prostate(1)	autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131						c.(2428-2430)acC>acT		sortilin-related VPS10 domain containing receptor 3							106	92	97					10																	106974254		2203	4300	6503	SO:0001819	synonymous_variant	22986					integral to membrane	neuropeptide receptor activity	g.chr10:106974254C>T	AB028982	CCDS7558.1	10q23-q25	2006-04-12			ENSG00000156395	ENSG00000156395			16699	protein-coding gene	gene with protein product		606285				11499680	Standard	NM_014978		Approved	KIAA1059, SORCS	uc001kyi.1	Q9UPU3	OTTHUMG00000019011	ENST00000369701.3:c.2430C>T	10.37:g.106974254C>T						SORCS3_ENST00000369699.4_Silent_p.T96T	p.T810T	NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)	18	2657	+		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)	810					Q5VXF9|Q9NQJ2	Silent	SNP	ENST00000369701.3	37	c.2430C>T	CCDS7558.1																																																																																				0.537	SORCS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050221.1	NM_014978		4	97	0	0	0	0.009096	0	4	97					T	106974254	C	T	106974254	2	4	48	1	0	0	0	0	0	0	0	1	14932	639	23	2		2	SORCS3	10	106974254	Silent	SNP	C	TCGA-EJ-5498-01A-01D-1576-08	85011639	106974254	28560493	30	2606											
CAPZA3	93661	broad.mit.edu	37	chr12	18891209	18891209	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgttgcaaccaaacatgacaCttagcgtgctgagcaggaag	13	8	11	9	1	0	2	0	2	0	0	0	3	0	3	1	1	6	4	1	1	4	2			TCGA-EJ-5498-01A-01D-1576-08	TCGA-EJ-5498-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4e02da-87be-46e2-b4bd-555ca1440808	b8daddf3-4dbc-47b1-b5bf-777c46131bb8	g.chr12:18891209C>G	ENST00000317658.3	+	1	165	c.7C>G	c.(7-9)Ctt>Gtt	p.L3V	PLCZ1_ENST00000435379.1_5'Flank|PLCZ1_ENST00000447925.2_5'Flank|PLCZ1_ENST00000539875.1_5'Flank|RP11-361I14.2_ENST00000536931.1_RNA|PLCZ1_ENST00000266505.7_5'Flank	NM_033328.2	NP_201585.1	Q96KX2	CAZA3_HUMAN	capping protein (actin filament) muscle Z-line, alpha 3	3					actin cytoskeleton organization (GO:0030036)|actin filament capping (GO:0051693)|spermatid development (GO:0007286)	acrosomal vesicle (GO:0001669)|cortical cytoskeleton (GO:0030863)|F-actin capping protein complex (GO:0008290)|membrane (GO:0016020)|nucleus (GO:0005634)|WASH complex (GO:0071203)		p.L3V(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|prostate(1)	19	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)	Hepatocellular(102;0.194)				AAACATGACACTTAGCGTGCT	0.438																																						ENST00000317658.3																			1	Substitution - Missense(1)	p.L3V(1)	prostate(1)	breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|prostate(1)	19						c.(7-9)Ctt>Gtt		capping protein (actin filament) muscle Z-line, alpha 3							82	80	80					12																	18891209		2203	4299	6502	SO:0001583	missense	93661				actin cytoskeleton organization|actin filament capping	F-actin capping protein complex	actin binding	g.chr12:18891209C>G	AB053259	CCDS8681.1	12p12.3	2008-02-05			ENSG00000177938	ENSG00000177938			24205	protein-coding gene	gene with protein product		608722				12029070	Standard	NM_033328		Approved	Gsg3, CAPPA3	uc001rdy.3	Q96KX2	OTTHUMG00000169001	ENST00000317658.3:c.7C>G	12.37:g.18891209C>G	ENSP00000326238:p.Leu3Val						p.L3V	NM_033328.2	NP_201585.1	Q96KX2	CAZA3_HUMAN			1	165	+	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)	Hepatocellular(102;0.194)	3					Q969J0	Missense_Mutation	SNP	ENST00000317658.3	37	c.7C>G	CCDS8681.1	.	.	.	.	.	.	.	.	.	.	C	8.795	0.931438	0.18131	.	.	ENSG00000177938	ENST00000317658	.	.	.	5.31	4.35	0.52113	.	0.466123	0.19910	N	0.103315	T	0.22513	0.0543	N	0.08118	0	0.19300	N	0.999979	B	0.16603	0.018	B	0.16722	0.016	T	0.08066	-1.0740	9	0.33141	T	0.24	-9.6728	10.264	0.43445	0.2104:0.7896:0.0:0.0	.	3	Q96KX2	CAZA3_HUMAN	V	3	.	ENSP00000326238:L3V	L	+	1	0	CAPZA3	18782476	0.095000	0.21747	0.958000	0.39756	0.469000	0.32828	0.732000	0.26072	2.763000	0.94921	0.563000	0.77884	CTT		0.438	CAPZA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401902.1	NM_033328		4	201	0	0	0	0.021553	0	4	201					G	18891209	C	G	18891209	3	3	48	1	0	0	0	0	1	0	0	0	2642	565	20	5	9	5	CAPZA3	12	18891209	Missense_Mutation	SNP	C	TCGA-EJ-5498-01A-01D-1576-08		18891209	114960686	31	2607											
OR6C76	390326	broad.mit.edu	37	chr12	55820712	55820712	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	atcagaactattctgagaatCccctcagcacagcaaagaaa	17	7	6	11	0	3	3	2	1	1	3	4	4	4	3	2	0	3	2	2	0	5	2			TCGA-EJ-5498-01A-01D-1576-08	TCGA-EJ-5498-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4e02da-87be-46e2-b4bd-555ca1440808	b8daddf3-4dbc-47b1-b5bf-777c46131bb8	g.chr12:55820712C>T	ENST00000328314.3	+	1	675	c.675C>T	c.(673-675)atC>atT	p.I225I		NM_001005183.1	NP_001005183.1	A6NM76	O6C76_HUMAN	olfactory receptor, family 6, subfamily C, member 76	225						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.I225I(1)		NS(1)|central_nervous_system(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						TTCTGAGAATCCCCTCAGCAC	0.363																																						ENST00000328314.3																			1	Substitution - coding silent(1)	p.I225I(1)	prostate(1)	NS(1)|central_nervous_system(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						c.(673-675)atC>atT		olfactory receptor, family 6, subfamily C, member 76							110	100	103					12																	55820712		2203	4300	6503	SO:0001819	synonymous_variant	390326				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr12:55820712C>T		CCDS31823.1	12q13.2	2013-09-23			ENSG00000185821	ENSG00000185821		"GPCR / Class A : Olfactory receptors"	31305	protein-coding gene	gene with protein product							Standard	NM_001005183		Approved		uc010spm.2	A6NM76	OTTHUMG00000169956	ENST00000328314.3:c.675C>T	12.37:g.55820712C>T							p.I225I	NM_001005183.1	NP_001005183.1	A6NM76	O6C76_HUMAN			1	675	+			225						Silent	SNP	ENST00000328314.3	37	c.675C>T	CCDS31823.1																																																																																				0.363	OR6C76-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406675.1	NM_001005183		18	108	0	0	0	0.0333	0	18	108					T	55820712	C	T	55820712	2	4	48	1	0	0	0	0	0	0	0	1	11200	845	30	3		3	OR6C76	12	55820712	Silent	SNP	C	TCGA-EJ-5498-01A-01D-1576-08	36929503	55820712	78031183	32	2608											
C12orf63	144535	broad.mit.edu	37	chr12	97085090	97085090	+	Splice_Site	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgttaggcaaaacctaatagTaagtaatttgtaaaataaaa	20	12	6	3	0	0	0	0	0	0	0	0	0	0	0	1	1	1	5	1	1	11	8			TCGA-EJ-5498-01A-01D-1576-08	TCGA-EJ-5498-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4e02da-87be-46e2-b4bd-555ca1440808	b8daddf3-4dbc-47b1-b5bf-777c46131bb8	g.chr12:97085090T>A	ENST00000524981.4	+	44	6287		c.e44+2					Q96N23	CL055_HUMAN																			AACCTAATAGTAAGTAATTTG	0.318																																						ENST00000524981.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(26)|ovary(1)|prostate(2)|skin(11)|stomach(2)	54						c.e11+2									49	45	46					12																	97085090		2203	4300	6503	SO:0001630	splice_region_variant	0							g.chr12:97085090T>A																												ENST00000524981.4:c.6264+2T>A	12.37:g.97085090T>A										Q6ZTY8	CL063_HUMAN			11	1617	+									Splice_Site	SNP	ENST00000524981.4	37			.	.	.	.	.	.	.	.	.	.	T	11.75	1.730928	0.30684	.	.	ENSG00000188596	ENST00000524981;ENST00000342887	.	.	.	5.63	5.63	0.86233	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.1381	0.81502	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	C12orf63	95609221	1.000000	0.71417	0.997000	0.53966	0.026000	0.11368	5.299000	0.65716	2.258000	0.74832	0.533000	0.62120	.		0.318	C12orf55-003	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf	protein_coding	protein_coding	OTTHUMT00000395046.4		Intron	4	95	0	0	0	0.009096	0	4	95					A	97085090	T	A	97085090	5	1	48	1	0	0	0	0	0	0	1	0	1706	1652	57	5	1579	5	C12orf63	12	97085090	Splice_Site	SNP	T	TCGA-EJ-5498-01A-01D-1576-08	41264378	97085090	36766805	33	2609											
MCF2L	23263	broad.mit.edu	37	chr13	113729393	113729393	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	actacgcggtagactccatcCgcccaaagtgccaggagctc	10	6	10	15	3	0	1	0	0	0	1	3	2	2	2	4	2	3	2	4	2	3	2	rs557301290		TCGA-EJ-5498-01A-01D-1576-08	TCGA-EJ-5498-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4e02da-87be-46e2-b4bd-555ca1440808	b8daddf3-4dbc-47b1-b5bf-777c46131bb8	g.chr13:113729393C>T	ENST00000375608.3	+	12	1346	c.1288C>T	c.(1288-1290)Cgc>Tgc	p.R430C	MCF2L_ENST00000375601.3_Missense_Mutation_p.R404C|MCF2L_ENST00000375597.4_Missense_Mutation_p.R398C|MCF2L_ENST00000421756.1_Missense_Mutation_p.R404C|MCF2L_ENST00000442652.2_Missense_Mutation_p.R430C|MCF2L_ENST00000434480.2_Missense_Mutation_p.R406C|MCF2L_ENST00000535094.2_Missense_Mutation_p.R400C|MCF2L_ENST00000397030.1_Missense_Mutation_p.R433C|MCF2L_ENST00000375604.2_Missense_Mutation_p.R457C|MCF2L_ENST00000423482.2_Missense_Mutation_p.R398C			O15068	MCF2L_HUMAN	MCF.2 cell line derived transforming sequence-like	430					apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|extracellular space (GO:0005615)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)	1-phosphatidylinositol binding (GO:0005545)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.R404C(1)		kidney(1)|large_intestine(5)|ovary(1)|stomach(1)	8	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0368)|all_epithelial(44;0.0396)|Lung NSC(25;0.129)|Breast(118;0.188)				AGACTCCATCCGCCCAAAGTG	0.662													C|||	1	0.000199681	8e-04	0	5008	,	,		14973	0		0	False		,,,				2504	0					ENST00000397030.1																			1	Substitution - Missense(1)	p.R404C(1)	prostate(1)	kidney(1)|large_intestine(5)|ovary(1)|stomach(1)	8						c.(1297-1299)Cgc>Tgc		MCF.2 cell line derived transforming sequence-like							72	81	78					13																	113729393		2203	4300	6503	SO:0001583	missense	23263				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	Rho guanyl-nucleotide exchange factor activity	g.chr13:113729393C>T	AB002360	CCDS9527.2, CCDS45070.1, CCDS9527.3, CCDS45070.2	13q34	2013-01-10			ENSG00000126217	ENSG00000126217		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	14576	protein-coding gene	gene with protein product		609499				9205841	Standard	NM_001112732		Approved	KIAA0362, DBS, OST, ARHGEF14	uc010tjr.2	O15068	OTTHUMG00000017377	ENST00000375608.3:c.1288C>T	13.37:g.113729393C>T	ENSP00000364758:p.Arg430Cys					MCF2L_ENST00000423482.2_Missense_Mutation_p.R398C|MCF2L_ENST00000421756.1_Missense_Mutation_p.R404C|MCF2L_ENST00000375597.4_Missense_Mutation_p.R398C|MCF2L_ENST00000434480.2_Missense_Mutation_p.R406C|MCF2L_ENST00000535094.2_Missense_Mutation_p.R400C|MCF2L_ENST00000375608.3_Missense_Mutation_p.R430C|MCF2L_ENST00000375604.2_Missense_Mutation_p.R457C|MCF2L_ENST00000375601.3_Missense_Mutation_p.R404C|MCF2L_ENST00000442652.2_Missense_Mutation_p.R430C	p.R433C			O15068	MCF2L_HUMAN			11	1334	+	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0368)|all_epithelial(44;0.0396)|Lung NSC(25;0.129)|Breast(118;0.188)	430					A2A2X1|A2A2X2|A2A3G6|A2A3G8|B4DHD6|B4DIL6|E9PDN8|Q5JU56|Q5VXT1|Q6ZWD4|Q765G8|Q765G9|Q8N679	Missense_Mutation	SNP	ENST00000375608.3	37	c.1297C>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.03|13.03	2.116463|2.116463	0.37339|0.37339	.|.	.|.	ENSG00000126217|ENSG00000126217	ENST00000397017|ENST00000375608;ENST00000442652;ENST00000375604;ENST00000397030;ENST00000535094;ENST00000421756;ENST00000375601;ENST00000434480;ENST00000423482;ENST00000375597;ENST00000440749	.|T;T;T;T;T;T;T;T;T;T	.|0.52754	.|0.65;0.65;0.65;0.65;0.65;0.65;0.65;0.65;0.65;0.65	4.88|4.88	4.02|4.02	0.46733|0.46733	.|.	.|0.465120	.|0.23254	.|N	.|0.050208	T|T	0.52805|0.52805	0.1757|0.1757	L|L	0.39692|0.39692	1.235|1.235	0.30093|0.30093	N|N	0.808113|0.808113	.|D;D;D;D;D;D	.|0.76494	.|0.997;0.992;0.997;0.999;0.978;0.997	.|P;P;P;D;P;D	.|0.65140	.|0.828;0.828;0.888;0.932;0.663;0.932	T|T	0.47983|0.47983	-0.9074|-0.9074	5|10	.|0.33141	.|T	.|0.24	.|.	9.5065|9.5065	0.39051|0.39051	0.1479:0.7729:0.0:0.0792|0.1479:0.7729:0.0:0.0792	.|.	.|398;400;457;362;398;430	.|E9PDN8;O15068-9;G5E9A1;E2QRA2;O15068-4;O15068	.|.;.;.;.;.;MCF2L_HUMAN	L|C	60|430;430;457;433;400;404;404;406;398;398;241	.|ENSP00000364758:R430C;ENSP00000401422:R430C;ENSP00000364754:R457C;ENSP00000380225:R433C;ENSP00000440374:R400C;ENSP00000397285:R404C;ENSP00000364751:R404C;ENSP00000407722:R406C;ENSP00000405639:R398C;ENSP00000364747:R398C	.|ENSP00000364747:R398C	P|R	+|+	2|1	0|0	MCF2L|MCF2L	112777394|112777394	0.998000|0.998000	0.40836|0.40836	0.953000|0.953000	0.39169|0.39169	0.029000|0.029000	0.11900|0.11900	2.088000|2.088000	0.41663|0.41663	2.239000|2.239000	0.73571|0.73571	0.561000|0.561000	0.74099|0.74099	CCG|CGC		0.662	MCF2L-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000045849.4			21	138	0	0	0	0.049695	0	21	138					T	113729393	C	T	113729393	3	4	48	1	0	0	0	0	1	0	0	0	9379	652	23	2	1506	2	MCF2L	13	113729393	Missense_Mutation	SNP	C	TCGA-EJ-5498-01A-01D-1576-08		113729393	1440485	34	2610											
SYNE2	23224	broad.mit.edu	37	chr14	64557603	64557603	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtcatacttgaaaatatacGtcccatgaagaaaaccattg	16	10	7	8	1	1	3	1	2	0	1	2	3	2	3	2	1	3	0	2	1	8	5			TCGA-EJ-5498-01A-01D-1576-08	TCGA-EJ-5498-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4e02da-87be-46e2-b4bd-555ca1440808	b8daddf3-4dbc-47b1-b5bf-777c46131bb8	g.chr14:64557603G>A	ENST00000344113.4	+	60	12025	c.11813G>A	c.(11812-11814)cGt>cAt	p.R3938H	SYNE2_ENST00000358025.3_Missense_Mutation_p.R3938H|SYNE2_ENST00000394768.2_Missense_Mutation_p.R323H|SYNE2_ENST00000357395.3_Missense_Mutation_p.R323H|SYNE2_ENST00000554584.1_Missense_Mutation_p.R3971H|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000555002.1_Missense_Mutation_p.R572H	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	3938					centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)	p.R3938H(1)		NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		GAAAATATACGTCCCATGAAG	0.358																																						ENST00000357395.3																			1	Substitution - Missense(1)	p.R3938H(1)	prostate(1)	NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224						c.(967-969)cGt>cAt		spectrin repeat containing, nuclear envelope 2							67	65	66					14																	64557603		2203	4300	6503	SO:0001583	missense	23224				centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding	g.chr14:64557603G>A	AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"nuclear envelope spectrin repeat-2", "nucleus and actin connecting element"	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.11813G>A	14.37:g.64557603G>A	ENSP00000341781:p.Arg3938His					SYNE2_ENST00000555002.1_Missense_Mutation_p.R572H|SYNE2_ENST00000344113.4_Missense_Mutation_p.R3938H|SYNE2_ENST00000554584.1_Missense_Mutation_p.R3971H|SYNE2_ENST00000358025.3_Missense_Mutation_p.R3938H|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000394768.2_Missense_Mutation_p.R323H	p.R323H			Q8WXH0	SYNE2_HUMAN		all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)	61	12112	+			3938					Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Missense_Mutation	SNP	ENST00000344113.4	37	c.968G>A	CCDS41963.1	.	.	.	.	.	.	.	.	.	.	G	9.442	1.088335	0.20390	.	.	ENSG00000054654	ENST00000358025;ENST00000357395;ENST00000344113;ENST00000554584;ENST00000261678;ENST00000555002;ENST00000394768	T;T;T;T;T;T	0.56611	0.83;4.13;0.83;0.45;4.18;4.13	5.66	0.00386	0.14056	.	0.660669	0.14029	N	0.346266	T	0.27933	0.0688	N	0.11201	0.11	0.09310	N	1	B;B;B;B	0.10296	0.003;0.002;0.0;0.003	B;B;B;B	0.06405	0.001;0.0;0.001;0.002	T	0.14008	-1.0488	10	0.38643	T	0.18	.	6.19	0.20518	0.4101:0.0:0.4697:0.1201	.	323;3972;3938;3938	Q8WXH0-7;D4YW74;Q8WXH0;Q8WXH0-2	.;.;SYNE2_HUMAN;.	H	3938;323;3938;3971;3971;572;323	ENSP00000350719:R3938H;ENSP00000349969:R323H;ENSP00000341781:R3938H;ENSP00000452570:R3971H;ENSP00000450831:R572H;ENSP00000378249:R323H	ENSP00000261678:R3971H	R	+	2	0	SYNE2	63627356	0.000000	0.05858	0.026000	0.17262	0.990000	0.78478	0.125000	0.15749	0.068000	0.16574	0.561000	0.74099	CGT		0.358	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276994.2	NM_182914		16	98	0	0	0	0.043863	0	16	98					A	64557603	G	A	64557603	3	1	48	1	0	0	0	0	1	0	0	0	15443	1145	40	1	12047	1	SYNE2	14	64557603	Missense_Mutation	SNP	G	TCGA-EJ-5498-01A-01D-1576-08		64557603	42791937	35	2611											
RYR3	6263	broad.mit.edu	37	chr15	33954939	33954939	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaaccctgctggtcatgggCgtgtttgatgatgatgatgt	7	13	15	6	1	1	4	1	4	0	0	1	5	1	5	1	3	2	2	1	3	1	1			TCGA-EJ-5498-01A-01D-1576-08	TCGA-EJ-5498-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4e02da-87be-46e2-b4bd-555ca1440808	b8daddf3-4dbc-47b1-b5bf-777c46131bb8	g.chr15:33954939C>T	ENST00000389232.4	+	35	5278	c.5208C>T	c.(5206-5208)ggC>ggT	p.G1736G	RYR3_ENST00000415757.3_Silent_p.G1736G	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	1736	4 X approximate repeats.				calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)	p.G1736G(2)		NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		TGGTCATGGGCGTGTTTGATG	0.567																																						ENST00000389232.4																			2	Substitution - coding silent(2)	p.G1736G(2)	prostate(2)	NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311						c.(5206-5208)ggC>ggT		ryanodine receptor 3							111	121	117					15																	33954939		2146	4264	6410	SO:0001819	synonymous_variant	6263				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr15:33954939C>T		CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"Ion channels / Ryanodine receptors", "EF-hand domain containing"	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.5208C>T	15.37:g.33954939C>T						RYR3_ENST00000415757.3_Silent_p.G1736G	p.G1736G	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)	35	5278	+		all_lung(180;7.18e-09)	1736			4 X approximate repeats.		O15175|Q15412	Silent	SNP	ENST00000389232.4	37	c.5208C>T	CCDS45210.1																																																																																				0.567	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1			20	115	0	0	0	0.049695	0	20	115					T	33954939	C	T	33954939	2	4	48	1	0	0	0	0	0	0	0	1	13770	755	27	1		1	RYR3	15	33954939	Silent	SNP	C	TCGA-EJ-5498-01A-01D-1576-08		33954939	68576453	36	2612											
C16orf13	84326	broad.mit.edu	37	chr16	685626	685626	+	Frame_Shift_Del	DEL	G	G	-																															acagacctccgtgcagcgcaGggggctgacatgggccatgt																										TCGA-EJ-5498-01A-01D-1576-08	TCGA-EJ-5498-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4e02da-87be-46e2-b4bd-555ca1440808	b8daddf3-4dbc-47b1-b5bf-777c46131bb8	g.chr16:685626delG	ENST00000301686.8	-	2	357	c.346delC	c.(346-348)ctgfs	p.L116fs	C16orf13_ENST00000397664.4_Intron|C16orf13_ENST00000397666.2_Frame_Shift_Del_p.L116fs|C16orf13_ENST00000338401.4_Intron|C16orf13_ENST00000397665.2_Frame_Shift_Del_p.L116fs	NM_032366.3	NP_115742.3	Q96S19	CP013_HUMAN	chromosome 16 open reading frame 13	116										large_intestine(1)	1		Hepatocellular(780;0.00335)				GTGCAGCGCAGGGGGCTGACA	0.657																																						ENST00000301686.8																			0				large_intestine(1)	1						c.(346-348)tgfs		chromosome 16 open reading frame 13							10	15	13					16																	685626		1949	4029	5978	SO:0001589	frameshift_variant	84326							g.chr16:685626delG		CCDS32352.1, CCDS42090.1, CCDS42091.1, CCDS45367.1, CCDS45368.1, CCDS73798.1	16p13.3	2012-10-09			ENSG00000130731	ENSG00000130731			14141	protein-coding gene	gene with protein product							Standard	NM_001040160		Approved	MGC13114	uc002chw.1	Q96S19	OTTHUMG00000047855	ENST00000301686.8:c.346delC	16.37:g.685626delG	ENSP00000445926:p.Leu116fs					C16orf13_ENST00000397665.2_Frame_Shift_Del_p.L116fs|C16orf13_ENST00000397664.4_Intron|C16orf13_ENST00000397666.2_Frame_Shift_Del_p.L116fs|C16orf13_ENST00000338401.4_Intron	p.L116fs	NM_032366.3	NP_115742.3	Q96S19	CP013_HUMAN			2	357	-		Hepatocellular(780;0.00335)	116					A8MTR1|A8MWJ8|A8MZA1|B4DG95|B4DIJ3|D6REA6|F6TF62|F6VM53|Q96IW1|Q96MD6	Frame_Shift_Del	DEL	ENST00000301686.8	37	c.346delC	CCDS45368.1																																																																																				0.657	C16orf13-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109081.2	NM_001040160		2	4						2	4	---	---	---	---	-	685626	G	-	685626	7	5	48	1	0	1	0	1	0	0	0	0	1811	991	35	0	359	0	C16orf13	16	685626	Frame_Shift_Del	DEL	G	TCGA-EJ-5498-01A-01D-1576-08		685626	89669127	37	2613											
CLTC	1213	broad.mit.edu	37	chr17	57737855	57737855	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ggctgtacgtaataacttagCcggtgctgaagaactctttg	10	12	11	8	2	1	2	0	1	1	1	1	2	1	2	1	2	5	4	1	2	6	5			TCGA-EJ-5498-01A-01D-1576-08	TCGA-EJ-5498-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4e02da-87be-46e2-b4bd-555ca1440808	b8daddf3-4dbc-47b1-b5bf-777c46131bb8	g.chr17:57737855C>T	ENST00000269122.3	+	7	1347	c.1073C>T	c.(1072-1074)gCc>gTc	p.A358V	CLTC_ENST00000579456.1_Intron|CLTC_ENST00000393043.1_Missense_Mutation_p.A358V	NM_004859.3	NP_004850.1	Q00610	CLH1_HUMAN	clathrin, heavy chain (Hc)	358	Globular terminal domain.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|mitotic nuclear division (GO:0007067)|negative regulation of hyaluronan biosynthetic process (GO:1900126)|negative regulation of protein localization to plasma membrane (GO:1903077)|osteoblast differentiation (GO:0001649)|post-Golgi vesicle-mediated transport (GO:0006892)|receptor internalization (GO:0031623)|receptor-mediated endocytosis (GO:0006898)|transferrin transport (GO:0033572)	clathrin coat (GO:0030118)|clathrin coat of coated pit (GO:0030132)|clathrin coat of trans-Golgi network vesicle (GO:0030130)|clathrin complex (GO:0071439)|clathrin-coated endocytic vesicle membrane (GO:0030669)|clathrin-coated vesicle (GO:0030136)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|spindle (GO:0005819)|trans-Golgi network membrane (GO:0032588)|vesicle (GO:0031982)	clathrin light chain binding (GO:0032051)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|structural molecule activity (GO:0005198)	p.A358V(1)	CLTC/ALK(44)|CLTC/TFE3(2)	breast(2)|large_intestine(6)|ovary(1)	9	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)					AATAACTTAGCCGGTGCTGAA	0.433			T	"ALK, TFE3"	"ALCL, renal "																																	ENST00000269122.3				Dom	yes		17	17q11-qter	1213	T	"clathrin, heavy polypeptide (Hc)"			L	"ALK, TFE3"		"ALCL, renal "	CLTC/ALK(44)|CLTC/TFE3(2)	1	Substitution - Missense(1)	p.A358V(1)	prostate(1)	breast(2)|large_intestine(6)|ovary(1)	9						c.(1072-1074)gCc>gTc		clathrin, heavy chain (Hc)							184	194	191					17																	57737855		2203	4300	6503	SO:0001583	missense	1213				axon guidance|epidermal growth factor receptor signaling pathway|intracellular protein transport|mitosis|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|post-Golgi vesicle-mediated transport|receptor internalization|transferrin transport	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|cytosol|melanosome|spindle	protein binding|structural molecule activity	g.chr17:57737855C>T	X55878	CCDS32696.1, CCDS74115.1	17q23.1	2013-09-19	2006-09-29		ENSG00000141367	ENSG00000141367			2092	protein-coding gene	gene with protein product		118955	"clathrin, heavy polypeptide (Hc)", "clathrin, heavy chain", "clathrin, heavy polypeptide-like 2"	CLTCL2		1765375, 7584026	Standard	NM_004859		Approved	Hc	uc002ixq.1	Q00610	OTTHUMG00000134279	ENST00000269122.3:c.1073C>T	17.37:g.57737855C>T	ENSP00000269122:p.Ala358Val					CLTC_ENST00000393043.1_Missense_Mutation_p.A358V|CLTC_ENST00000579456.1_Intron	p.A358V	NM_004859.3	NP_004850.1	Q00610	CLH1_HUMAN			7	1347	+	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		358			Globular terminal domain.		D3DU00|Q6N0A0|Q86TF2	Missense_Mutation	SNP	ENST00000269122.3	37	c.1073C>T	CCDS32696.1	.	.	.	.	.	.	.	.	.	.	C	19.94	3.919514	0.73098	.	.	ENSG00000141367	ENST00000269122;ENST00000393043	T;T	0.43688	0.94;0.94	6.08	6.08	0.98989	Armadillo-type fold (1);Clathrin, heavy chain, linker/propeller domain (1);	0.000000	0.85682	D	0.000000	T	0.62245	0.2412	M	0.73598	2.24	0.80722	D	1	B;B	0.30179	0.271;0.045	P;B	0.45913	0.497;0.23	T	0.60954	-0.7160	10	0.87932	D	0	.	20.6721	0.99693	0.0:1.0:0.0:0.0	.	358;358	Q00610;Q00610-2	CLH1_HUMAN;.	V	358	ENSP00000269122:A358V;ENSP00000376763:A358V	ENSP00000269122:A358V	A	+	2	0	CLTC	55092637	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.818000	0.86416	2.894000	0.99253	0.591000	0.81541	GCC		0.433	CLTC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258859.1	NM_004859		6	443	0	0	0	0.021553	0	6	443					T	57737855	C	T	57737855	3	4	48	1	0	0	0	0	1	0	0	0	3566	739	26	3	1099	3	CLTC	17	57737855	Missense_Mutation	SNP	C	TCGA-EJ-5498-01A-01D-1576-08		57737855	23457355	38	2614											
KIAA1632	57724	broad.mit.edu	37	chr18	43505804	43505804	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ataaccaatcccgaatcaccGctatctcagatgcagaaggt	14	8	7	12	2	2	2	2	0	1	2	4	3	3	2	3	1	2	2	3	1	5	2	rs201678945		TCGA-EJ-5498-01A-01D-1576-08	TCGA-EJ-5498-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4e02da-87be-46e2-b4bd-555ca1440808	b8daddf3-4dbc-47b1-b5bf-777c46131bb8	g.chr18:43505804G>A	ENST00000282041.5	-	14	2652	c.2618C>T	c.(2617-2619)gCg>gTg	p.A873V		NM_020964.2	NP_066015.2	Q9HCE0	EPG5_HUMAN	ectopic P-granules autophagy protein 5 homolog (C. elegans)	873					autophagic vacuole maturation (GO:0097352)|autophagy (GO:0006914)|endocytic recycling (GO:0032456)			p.A873V(1)		NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	95						CCGAATCACCGCTATCTCAGA	0.353													G|||	1	0.000199681	0	0	5008	,	,		17269	0		0.001	False		,,,				2504	0					ENST00000282041.5																			1	Substitution - Missense(1)	p.A873V(1)	prostate(1)	NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	95						c.(2617-2619)gCg>gTg		ectopic P-granules autophagy protein 5 homolog (C. elegans)		G	VAL/ALA	0,3708		0,0,1854	113	102	106		2618	5.5	1	18		106	1,8195		0,1,4097	no	missense	EPG5	NM_020964.2	64	0,1,5951	AA,AG,GG		0.0122,0.0,0.0084	benign	873/2580	43505804	1,11903	1854	4098	5952	SO:0001583	missense	57724				autophagy			g.chr18:43505804G>A	AK023817	CCDS11926.2	18q12.3	2011-03-02	2011-03-02	2011-03-02	ENSG00000152223	ENSG00000152223			29331	protein-coding gene	gene with protein product		615068	"KIAA1632"	KIAA1632		10997877, 20550938	Standard	XM_005258323		Approved	hEPG5	uc002lbm.3	Q9HCE0	OTTHUMG00000132626	ENST00000282041.5:c.2618C>T	18.37:g.43505804G>A	ENSP00000282041:p.Ala873Val						p.A873V	NM_020964.2	NP_066015.2	Q9HCE0	EPG5_HUMAN			14	2652	-			873					A2BDF3|Q9H8C8	Missense_Mutation	SNP	ENST00000282041.5	37	c.2618C>T	CCDS11926.2	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	23.1	4.379761	0.82682	0.0	1.22E-4	ENSG00000152223	ENST00000282041	T	0.10382	2.88	5.47	5.47	0.80525	.	0.191311	0.44097	D	0.000486	T	0.10252	0.0251	L	0.33485	1.01	0.36448	D	0.865924	P;P	0.52170	0.951;0.951	B;B	0.40134	0.32;0.32	T	0.07539	-1.0767	10	0.59425	D	0.04	-14.7213	15.2542	0.73571	0.0:0.1399:0.8601:0.0	.	873;873	Q9HCE0-2;Q9HCE0	.;EPG5_HUMAN	V	873	ENSP00000282041:A873V	ENSP00000282041:A873V	A	-	2	0	EPG5	41759802	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.450000	0.52957	2.751000	0.94390	0.650000	0.86243	GCG		0.353	EPG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445081.1	NM_020964		18	170	0	0	0	0.0333	0	18	170					A	43505804	G	A	43505804	3	1	48	1	0	0	0	0	1	0	0	0	8249	1087	38	1	5245	1	KIAA1632	18	43505804	Missense_Mutation	SNP	G	TCGA-EJ-5498-01A-01D-1576-08		43505804	34571444	39	2615											
SERPINB5	5268	broad.mit.edu	37	chr18	61170910	61170910	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atttacatcatcaggcacaaCaaaactcgaaacattatttt	17	12	3	9	1	2	0	2	0	0	0	3	1	2	0	0	1	4	1	0	1	6	5			TCGA-EJ-5498-01A-01D-1576-08	TCGA-EJ-5498-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4e02da-87be-46e2-b4bd-555ca1440808	b8daddf3-4dbc-47b1-b5bf-777c46131bb8	g.chr18:61170910C>A	ENST00000382771.4	+	7	1375	c.1083C>A	c.(1081-1083)aaC>aaA	p.N361K		NM_002639.4	NP_002630.2	P36952	SPB5_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 5	361					cellular component movement (GO:0006928)|extracellular matrix organization (GO:0030198)|morphogenesis of an epithelium (GO:0002009)|negative regulation of endopeptidase activity (GO:0010951)|prostate gland morphogenesis (GO:0060512)|regulation of epithelial cell proliferation (GO:0050678)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase inhibitor activity (GO:0004867)			kidney(3)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)	12						TCAGGCACAACAAAACTCGAA	0.443																																						ENST00000382771.4																			0				kidney(3)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)	12						c.(1081-1083)aaC>aaA		serpin peptidase inhibitor, clade B (ovalbumin), member 5							157	157	157					18																	61170910		2203	4300	6503	SO:0001583	missense	5268				cellular component movement|regulation of proteolysis	cytoplasm|extracellular space	protein binding|serine-type endopeptidase inhibitor activity	g.chr18:61170910C>A	U04313	CCDS32839.1	18q21.33	2014-02-18	2005-08-18		ENSG00000206075	ENSG00000206075		"Serine (or cysteine) peptidase inhibitors"	8949	protein-coding gene	gene with protein product	"protease inhibitor 5 (maspin)"	154790	"serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 5"	PI5		8290962, 7724531, 16720730, 24172014	Standard	NM_002639		Approved	maspin	uc002liz.4	P36952	OTTHUMG00000141307	ENST00000382771.4:c.1083C>A	18.37:g.61170910C>A	ENSP00000372221:p.Asn361Lys						p.N361K	NM_002639.4	NP_002630.2	P36952	SPB5_HUMAN			7	1375	+			361					B2R6Y4|Q6N0B4|Q8WW89	Missense_Mutation	SNP	ENST00000382771.4	37	c.1083C>A	CCDS32839.1	.	.	.	.	.	.	.	.	.	.	C	18.10	3.548530	0.65311	.	.	ENSG00000206075	ENST00000382771	D	0.84370	-1.84	5.64	4.77	0.60923	Serpin domain (3);	0.000000	0.85682	D	0.000000	D	0.89153	0.6634	L	0.52823	1.66	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.87992	0.2750	10	0.41790	T	0.15	.	10.6435	0.45606	0.0:0.8535:0.0:0.1465	.	361	P36952	SPB5_HUMAN	K	361	ENSP00000372221:N361K	ENSP00000372221:N361K	N	+	3	2	SERPINB5	59321890	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.313000	0.43735	1.385000	0.46445	0.655000	0.94253	AAC		0.443	SERPINB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280629.1	NM_002639		14	395	1	0	1.15088e-07	0.146539	1.3243e-07	14	395					A	61170910	C	A	61170910	3	1	48	1	0	0	0	0	1	0	0	0	14104	477	17	5	1105	5	SERPINB5	18	61170910	Missense_Mutation	SNP	C	TCGA-EJ-5498-01A-01D-1576-08	17665106	61170910	16906338	40	2616											
TSPAN16	26526	broad.mit.edu	37	chr19	11417404	11417404	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtgtcctgtgacggacgcgAtgtgtctccaaacgtcatcc	7	11	11	12	4	2	1	1	1	1	0	5	3	4	2	3	1	1	0	3	1	1	0			TCGA-EJ-5498-01A-01D-1576-08	TCGA-EJ-5498-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4e02da-87be-46e2-b4bd-555ca1440808	b8daddf3-4dbc-47b1-b5bf-777c46131bb8	g.chr19:11417404A>G	ENST00000316737.1	+	5	725	c.575A>G	c.(574-576)gAt>gGt	p.D192G	CTC-510F12.4_ENST00000586356.1_RNA|TSPAN16_ENST00000590327.1_Missense_Mutation_p.D192G|TSPAN16_ENST00000592955.1_Missense_Mutation_p.D167G	NM_012466.2	NP_036598.1	Q9UKR8	TSN16_HUMAN	tetraspanin 16	192						integral component of membrane (GO:0016021)		p.D192G(1)		breast(1)|endometrium(3)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(2)|stomach(1)	12						GACGGACGCGATGTGTCTCCA	0.473																																						ENST00000316737.1																			1	Substitution - Missense(1)	p.D192G(1)	prostate(1)	breast(1)|endometrium(3)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(2)|stomach(1)	12						c.(574-576)gAt>gGt		tetraspanin 16							102	85	90					19																	11417404		2203	4300	6503	SO:0001583	missense	26526					integral to membrane		g.chr19:11417404A>G	BC029908	CCDS12256.1, CCDS62549.1, CCDS62550.1	19p13.2	2013-02-14	2005-03-21	2005-03-21	ENSG00000130167	ENSG00000130167		"Tetraspanins"	30725	protein-coding gene	gene with protein product			"transmembrane 4 superfamily member 16"	TM4SF16		10500248	Standard	NM_012466		Approved	TM4-B, TM-8	uc002mqv.1	Q9UKR8	OTTHUMG00000180833	ENST00000316737.1:c.575A>G	19.37:g.11417404A>G	ENSP00000319486:p.Asp192Gly					CTC-510F12.4_ENST00000586356.1_RNA|TSPAN16_ENST00000592955.1_Missense_Mutation_p.D167G|TSPAN16_ENST00000590327.1_Missense_Mutation_p.D192G	p.D192G	NM_012466.2	NP_036598.1	Q9UKR8	TSN16_HUMAN			5	725	+			192					K7EN22|K7EPD8|Q8N6J7	Missense_Mutation	SNP	ENST00000316737.1	37	c.575A>G	CCDS12256.1	.	.	.	.	.	.	.	.	.	.	A	5.507	0.278503	0.10403	.	.	ENSG00000130167	ENST00000316737	D	0.87412	-2.25	3.25	1.1	0.20463	Tetraspanin, EC2 domain (1);	.	.	.	.	T	0.71921	0.3397	N	0.17082	0.46	0.09310	N	1	B	0.11235	0.004	B	0.09377	0.004	T	0.54892	-0.8225	9	0.21540	T	0.41	-7.9924	3.271	0.06882	0.6221:0.2453:0.1327:0.0	.	192	Q9UKR8	TSN16_HUMAN	G	192	ENSP00000319486:D192G	ENSP00000319486:D192G	D	+	2	0	TSPAN16	11278404	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.607000	0.24209	0.158000	0.19367	0.459000	0.35465	GAT		0.473	TSPAN16-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000453204.1	NM_012466		5	78	0	0	0	0.014758	0	5	78					G	11417404	A	G	11417404	3	3	48	1	0	0	0	0	1	0	0	0	16637	333	12	4	593	4	TSPAN16	19	11417404	Missense_Mutation	SNP	A	TCGA-EJ-5498-01A-01D-1576-08		11417404	47711579	41	2617											
CYP2A13	1553	broad.mit.edu	37	chr19	41596036	41596036	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggttttggcgtgggcaagcGcggcatcgaggaacgcatcc	7	7	17	10	5	0	0	0	0	0	0	2	2	1	1	1	5	2	4	1	5	2	2			TCGA-EJ-5498-01A-01D-1576-08	TCGA-EJ-5498-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4e02da-87be-46e2-b4bd-555ca1440808	b8daddf3-4dbc-47b1-b5bf-777c46131bb8	g.chr19:41596036G>A	ENST00000330436.3	+	3	428	c.428G>A	c.(427-429)cGc>cAc	p.R143H		NM_000766.4	NP_000757.2	Q16696	CP2AD_HUMAN	cytochrome P450, family 2, subfamily A, polypeptide 13	143					small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)	p.R143H(1)		breast(3)|endometrium(6)|kidney(4)|large_intestine(8)|lung(13)|ovary(3)|prostate(3)|skin(2)	42					Methoxsalen(DB00553)|Nicotine(DB00184)|Testosterone(DB00624)	GTGGGCAAGCGCGGCATCGAG	0.697																																						ENST00000330436.3																			1	Substitution - Missense(1)	p.R143H(1)	prostate(1)	breast(3)|endometrium(6)|kidney(4)|large_intestine(8)|lung(13)|ovary(3)|prostate(3)|skin(2)	42						c.(427-429)cGc>cAc		cytochrome P450, family 2, subfamily A, polypeptide 13	Clomipramine(DB01242)|Nicotine(DB00184)						30	30	30					19																	41596036		2201	4298	6499	SO:0001583	missense	1553				xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|coumarin 7-hydroxylase activity|electron carrier activity|heme binding	g.chr19:41596036G>A	U22028	CCDS12571.1	19q13.2	2013-11-11	2003-01-14		ENSG00000197838	ENSG00000197838		"Cytochrome P450s"	2608	protein-coding gene	gene with protein product		608055	"cytochrome P450, subfamily IIA (phenobarbital-inducible), polypeptide 13"			7668294, 15128046	Standard	NM_000766		Approved	CPAD, CYP2A	uc002opt.4	Q16696	OTTHUMG00000182762	ENST00000330436.3:c.428G>A	19.37:g.41596036G>A	ENSP00000332679:p.Arg143His						p.R143H	NM_000766.4	NP_000757.2	Q16696	CP2AD_HUMAN			3	428	+			143					Q53YR8|Q6R569|Q6R570|Q9H2X2	Missense_Mutation	SNP	ENST00000330436.3	37	c.428G>A	CCDS12571.1	.	.	.	.	.	.	.	.	.	.	.	8.764	0.924222	0.18056	.	.	ENSG00000197838	ENST00000330436	T	0.01414	4.92	3.39	2.34	0.29019	.	0.058520	0.64402	U	0.000006	T	0.02455	0.0075	M	0.84082	2.675	0.22489	N	0.99906	P	0.38978	0.652	B	0.33295	0.161	T	0.34329	-0.9833	10	0.87932	D	0	.	8.1502	0.31137	0.2111:0.0:0.7889:0.0	.	143	Q16696	CP2AD_HUMAN	H	143	ENSP00000332679:R143H	ENSP00000332679:R143H	R	+	2	0	CYP2A13	46287876	0.085000	0.21516	0.976000	0.42696	0.011000	0.07611	0.939000	0.28978	0.735000	0.32537	-1.279000	0.01387	CGC		0.697	CYP2A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463505.1	NM_000766		10	50	0	0	0	0.080935	0	10	50					A	41596036	G	A	41596036	3	1	48	1	0	0	0	0	1	0	0	0	4161	1087	38	1	438	1	CYP2A13	19	41596036	Missense_Mutation	SNP	G	TCGA-EJ-5498-01A-01D-1576-08	30178632	41596036	17532947	42	2618											
ZNF283	284349	broad.mit.edu	37	chr19	44352238	44352238	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtaaagaatgcggaaagacCttttgtagtgggtatcaact	13	12	11	5	1	1	2	1	0	0	2	1	3	1	3	1	2	2	3	1	2	7	5			TCGA-EJ-5498-01A-01D-1576-08	TCGA-EJ-5498-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4e02da-87be-46e2-b4bd-555ca1440808	b8daddf3-4dbc-47b1-b5bf-777c46131bb8	g.chr19:44352238C>G	ENST00000324461.7	+	7	1782	c.1485C>G	c.(1483-1485)acC>acG	p.T495T	ZNF283_ENST00000588797.1_Silent_p.T356T	NM_181845.1	NP_862828.1	Q8N7M2	ZN283_HUMAN	zinc finger protein 283	495					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.T495T(2)		endometrium(1)|large_intestine(3)|lung(4)	8		Prostate(69;0.0352)				GCGGAAAGACCTTTTGTAGTG	0.413																																						ENST00000324461.7																			2	Substitution - coding silent(2)	p.T495T(2)	prostate(1)|kidney(1)	endometrium(1)|large_intestine(3)|lung(4)	8						c.(1483-1485)acC>acG		zinc finger protein 283							113	127	122					19																	44352238		2194	4297	6491	SO:0001819	synonymous_variant	284349				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44352238C>G	AK098175	CCDS46097.1, CCDS74387.1	19q13.31	2013-01-08			ENSG00000167637	ENSG00000167637		"Zinc fingers, C2H2-type", "-"	13077	protein-coding gene	gene with protein product						12743021	Standard	NM_181845		Approved		uc002oxr.4	Q8N7M2		ENST00000324461.7:c.1485C>G	19.37:g.44352238C>G						ZNF283_ENST00000588797.1_Silent_p.T356T	p.T495T	NM_181845.1	NP_862828.1	Q8N7M2	ZN283_HUMAN			7	1782	+		Prostate(69;0.0352)	495					B4DGZ5|B7WP04|Q6RFR9|Q86WM6	Silent	SNP	ENST00000324461.7	37	c.1485C>G	CCDS46097.1																																																																																				0.413	ZNF283-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459909.1	NM_181845		15	218	0	0	0	0.132662	0	15	218					G	44352238	C	G	44352238	2	3	48	1	0	0	0	0	0	0	0	1	17817	668	24	5		5	ZNF283	19	44352238	Silent	SNP	C	TCGA-EJ-5498-01A-01D-1576-08	2756202	44352238	14776745	43	2619											
MYBPC2	4606	broad.mit.edu	37	chr19	50939044	50939044	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cctgaacagaagccccacccGaggaccagtccccgactgca	11	3	9	18	2	0	2	0	1	0	1	1	5	1	3	7	1	3	1	7	1	2	0	rs374389710		TCGA-EJ-5498-01A-01D-1576-08	TCGA-EJ-5498-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4e02da-87be-46e2-b4bd-555ca1440808	b8daddf3-4dbc-47b1-b5bf-777c46131bb8	g.chr19:50939044G>A	ENST00000357701.5	+	3	172	c.121G>A	c.(121-123)Gag>Aag	p.E41K		NM_004533.3	NP_004524.3	Q14324	MYPC2_HUMAN	myosin binding protein C, fast type	41					cell adhesion (GO:0007155)|muscle filament sliding (GO:0030049)	cytosol (GO:0005829)|myosin filament (GO:0032982)	structural constituent of muscle (GO:0008307)	p.E41K(1)		breast(1)	1		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.0079)|GBM - Glioblastoma multiforme(134;0.0144)		AGCCCCACCCGAGGACCAGTC	0.627																																						ENST00000357701.5																			1	Substitution - Missense(1)	p.E41K(1)	prostate(1)	breast(1)	1						c.(121-123)Gag>Aag		myosin binding protein C, fast type		G	LYS/GLU	1,3761		0,1,1880	23	26	25		121	4.6	1	19		25	1,8207		0,1,4103	no	missense	MYBPC2	NM_004533.3	56	0,2,5983	AA,AG,GG		0.0122,0.0266,0.0167	benign	41/1142	50939044	2,11968	1881	4104	5985	SO:0001583	missense	4606				cell adhesion|muscle filament sliding	cytosol|myosin filament	actin binding|structural constituent of muscle	g.chr19:50939044G>A		CCDS46152.1	19q13.33	2013-02-11	2001-11-28		ENSG00000086967	ENSG00000086967		"Myosin binding proteins", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	7550	protein-coding gene	gene with protein product	"fast-type muscle myosin-binding-protein C"	160793	"myosin-binding protein C, fast-type"			8375400	Standard	NM_004533		Approved	MYBPCF, MYBPC, MGC163408	uc002psf.2	Q14324		ENST00000357701.5:c.121G>A	19.37:g.50939044G>A	ENSP00000350332:p.Glu41Lys						p.E41K	NM_004533.3	NP_004524.3	Q14324	MYPC2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0079)|GBM - Glioblastoma multiforme(134;0.0144)	3	172	+		all_neural(266;0.057)	41					A1L4G9	Missense_Mutation	SNP	ENST00000357701.5	37	c.121G>A	CCDS46152.1	.	.	.	.	.	.	.	.	.	.	.	12.27	1.889018	0.33348	2.66E-4	1.22E-4	ENSG00000086967	ENST00000357701	T	0.57436	0.4	4.6	4.6	0.57074	.	.	.	.	.	T	0.37598	0.1009	L	0.52573	1.65	0.31573	N	0.656068	P	0.48230	0.907	B	0.31337	0.128	T	0.45026	-0.9289	9	0.09338	T	0.73	.	13.267	0.60139	0.0:0.0:1.0:0.0	.	41	Q14324	MYPC2_HUMAN	K	41	ENSP00000350332:E41K	ENSP00000350332:E41K	E	+	1	0	MYBPC2	55630856	0.985000	0.35326	0.952000	0.39060	0.053000	0.15095	2.031000	0.41117	2.270000	0.75569	0.467000	0.42956	GAG		0.627	MYBPC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464751.1	NM_004533		8	20	0	0	0	0.080935	0	8	20					A	50939044	G	A	50939044	3	1	48	1	0	0	0	0	1	0	0	0	10012	1059	37	2	131	2	MYBPC2	19	50939044	Missense_Mutation	SNP	G	TCGA-EJ-5498-01A-01D-1576-08	6586806	50939044	8189939	44	2620											
ZNF579	163033	broad.mit.edu	37	chr19	56090151	56090151	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggaccagccggtggcgcgaCagggaccagggcctggcgaa	8	3	18	12	4	0	0	0	0	0	0	0	4	0	2	4	6	1	0	4	6	1	0			TCGA-EJ-5498-01A-01D-1576-08	TCGA-EJ-5498-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4e02da-87be-46e2-b4bd-555ca1440808	b8daddf3-4dbc-47b1-b5bf-777c46131bb8	g.chr19:56090151C>T	ENST00000325421.4	-	2	883	c.855G>A	c.(853-855)ctG>ctA	p.L285L	CTD-2537I9.5_ENST00000589396.1_lincRNA	NM_152600.2	NP_689813.2	Q8NAF0	ZN579_HUMAN	zinc finger protein 579	285					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.L285L(1)		endometrium(1)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	9			BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.106)		GGTGGCGCGACAGGGACCAGG	0.731																																						ENST00000325421.4																			1	Substitution - coding silent(1)	p.L285L(1)	prostate(1)	endometrium(1)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	9						c.(853-855)ctG>ctA		zinc finger protein 579							28	32	31					19																	56090151		2201	4298	6499	SO:0001819	synonymous_variant	163033				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:56090151C>T	AK092772	CCDS12927.1	19q13.42	2013-09-20			ENSG00000218891	ENSG00000218891		"Zinc fingers, C2H2-type"	26646	protein-coding gene	gene with protein product							Standard	NM_152600		Approved	FLJ35453	uc002qlh.3	Q8NAF0	OTTHUMG00000180857	ENST00000325421.4:c.855G>A	19.37:g.56090151C>T							p.L285L	NM_152600.2	NP_689813.2	Q8NAF0	ZN579_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.106)	2	883	-			285						Silent	SNP	ENST00000325421.4	37	c.855G>A	CCDS12927.1																																																																																				0.731	ZNF579-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453348.1	NM_152600		4	38	0	0	0	0.021553	0	4	38					T	56090151	C	T	56090151	2	4	48	1	0	0	0	0	0	0	0	1	18008	465	17	3		3	ZNF579	19	56090151	Silent	SNP	C	TCGA-EJ-5498-01A-01D-1576-08	5151107	56090151	3038832	45	2621											
PEG3	5178	broad.mit.edu	37	chr19	57329201	57329201	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gccatcgtcttcagcaagctGcactcctggtcacaaggaca	10	8	9	14	1	3	0	2	0	1	0	5	1	4	1	2	2	3	3	2	2	2	1			TCGA-EJ-5498-01A-01D-1576-08	TCGA-EJ-5498-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4e02da-87be-46e2-b4bd-555ca1440808	b8daddf3-4dbc-47b1-b5bf-777c46131bb8	g.chr19:57329201G>T	ENST00000326441.9	-	9	1138	c.775C>A	c.(775-777)Cag>Aag	p.Q259K	PEG3_ENST00000593695.1_Missense_Mutation_p.Q133K|ZIM2_ENST00000593711.1_Intron|ZIM2_ENST00000391708.3_Intron|ZIM2_ENST00000221722.5_Intron|PEG3_ENST00000423103.2_Missense_Mutation_p.Q259K|ZIM2_ENST00000601070.1_Intron|PEG3_ENST00000598410.1_Missense_Mutation_p.Q135K|ZIM2_ENST00000599935.1_Intron	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	259					apoptotic process (GO:0006915)|genetic imprinting (GO:0071514)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)	p.Q259K(2)		NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		TCAGCAAGCTGCACTCCTGGT	0.488																																						ENST00000326441.9																			2	Substitution - Missense(2)	p.Q259K(2)	prostate(2)	NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170						c.(775-777)Cag>Aag		paternally expressed 3							132	95	108					19																	57329201		2203	4300	6503	SO:0001583	missense	5178				apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:57329201G>T	AB006625	CCDS12948.1, CCDS58684.1, CCDS58685.1	19q13.4	2013-01-09				ENSG00000198300		"Zinc fingers, C2H2-type", "-", "-", "-"	8826	protein-coding gene	gene with protein product		601483				9149948	Standard	NM_006210		Approved	ZKSCAN22, KIAA0287, ZNF904, ZSCAN24	uc010etr.2	Q9GZU2		ENST00000326441.9:c.775C>A	19.37:g.57329201G>T	ENSP00000326581:p.Gln259Lys					ZIM2_ENST00000391708.3_Intron|ZIM2_ENST00000593711.1_Intron|PEG3_ENST00000593695.1_Missense_Mutation_p.Q133K|ZIM2_ENST00000601070.1_Intron|PEG3_ENST00000423103.2_Missense_Mutation_p.Q259K|ZIM2_ENST00000599935.1_Intron|ZIM2_ENST00000221722.5_Intron|PEG3_ENST00000598410.1_Missense_Mutation_p.Q135K	p.Q259K	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN		GBM - Glioblastoma multiforme(193;0.0269)	9	1138	-		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)	259					A7E2B8|B4DIM4|C9JP50|P78418|Q5H9P9|Q7Z7H7|Q8TF75|Q9GZY2	Missense_Mutation	SNP	ENST00000326441.9	37	c.775C>A	CCDS12948.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.011862	0.75046	.	.	ENSG00000198300	ENST00000326441;ENST00000423103	T;T	0.02763	4.17;4.17	4.28	4.28	0.50868	.	0.182576	0.27027	N	0.021284	T	0.02267	0.0070	L	0.27053	0.805	.	.	.	P;P	0.47034	0.889;0.889	B;B	0.40940	0.258;0.344	T	0.39231	-0.9624	9	0.06365	T	0.9	-33.0983	12.5175	0.56040	0.0:0.0:1.0:0.0	.	135;259	A7E2B8;Q9GZU2	.;PEG3_HUMAN	K	259	ENSP00000326581:Q259K;ENSP00000403051:Q259K	ENSP00000326581:Q259K	Q	-	1	0	ZIM2	62021013	0.988000	0.35896	0.993000	0.49108	0.994000	0.84299	2.589000	0.46145	2.676000	0.91093	0.655000	0.94253	CAG		0.488	PEG3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416099.2			5	41	1	0	0.000602214	0.014758	0.000665605	5	41					T	57329201	G	T	57329201	3	4	48	1	0	0	0	0	1	0	0	0	11720	1328	46	5	3999	5	PEG3	19	57329201	Missense_Mutation	SNP	G	TCGA-EJ-5498-01A-01D-1576-08	1239050	57329201	1799782	46	2622											
RBL1	5933	broad.mit.edu	37	chr20	35668590	35668590	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccactgtcagttcgaacttcCttgactcttgggtgcattag	7	14	9	11	1	2	1	1	1	1	0	4	2	3	1	2	1	2	2	2	1	2	5			TCGA-EJ-5498-01A-01D-1576-08	TCGA-EJ-5498-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4e02da-87be-46e2-b4bd-555ca1440808	b8daddf3-4dbc-47b1-b5bf-777c46131bb8	g.chr20:35668590C>T	ENST00000373664.3	-	14	1935	c.1869G>A	c.(1867-1869)aaG>aaA	p.K623K	RBL1_ENST00000344359.3_Silent_p.K623K	NM_002895.2	NP_002886.2	P28749	RBL1_HUMAN	retinoblastoma-like 1	623	Pocket; binds T and E1A.|Spacer.				chromatin modification (GO:0016568)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell cycle (GO:0051726)|regulation of lipid kinase activity (GO:0043550)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	transcription factor binding (GO:0008134)	p.K623K(1)		NS(1)|breast(1)|endometrium(7)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	42		Myeloproliferative disorder(115;0.00878)				TTCGAACTTCCTTGACTCTTG	0.418																																						ENST00000373664.3																			1	Substitution - coding silent(1)	p.K623K(1)	prostate(1)	NS(1)|breast(1)|endometrium(7)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	42						c.(1867-1869)aaG>aaA		retinoblastoma-like 1 (p107)							152	140	144					20																	35668590		2203	4300	6503	SO:0001819	synonymous_variant	5933				cell cycle|chromatin modification|interspecies interaction between organisms|regulation of cell cycle|regulation of lipid kinase activity|transcription, DNA-dependent		transcription factor binding	g.chr20:35668590C>T	L14812	CCDS13289.1, CCDS13290.1	20q11.23	2014-03-11	2014-03-11		ENSG00000080839	ENSG00000080839			9893	protein-coding gene	gene with protein product		116957				1833063	Standard	NM_183404		Approved	p107, cp107, PRB1	uc002xgi.3	P28749	OTTHUMG00000032406	ENST00000373664.3:c.1869G>A	20.37:g.35668590C>T						RBL1_ENST00000344359.3_Silent_p.K623K	p.K623K	NM_002895.2	NP_002886.2	P28749	RBL1_HUMAN			14	1935	-		Myeloproliferative disorder(115;0.00878)	623			Pocket; binds T and E1A.|Spacer.		A8K2W5|Q4VXA0|Q8N5K6|Q9H1L5|Q9H1M1	Silent	SNP	ENST00000373664.3	37	c.1869G>A	CCDS13289.1																																																																																				0.418	RBL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079067.2	NM_002895		22	222	0	0	0	0.069288	0	22	222					T	35668590	C	T	35668590	2	4	48	1	0	0	0	0	0	0	0	1	13109	680	24	3		3	RBL1	20	35668590	Silent	SNP	C	TCGA-EJ-5498-01A-01D-1576-08		35668590	27356930	47	2623											
JAM2	58494	broad.mit.edu	37	chr21	27078323	27078323	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	taagtggcatcatagcagccGtagtagttgtggccttagtg	9	12	13	7	1	1	0	1	0	0	0	1	0	1	0	2	2	2	5	2	2	5	6	rs200218663		TCGA-EJ-5498-01A-01D-1576-08	TCGA-EJ-5498-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4e02da-87be-46e2-b4bd-555ca1440808	b8daddf3-4dbc-47b1-b5bf-777c46131bb8	g.chr21:27078323G>A	ENST00000480456.1	+	7	1280	c.730G>A	c.(730-732)Gta>Ata	p.V244I	JAM2_ENST00000400532.1_Missense_Mutation_p.V244I|JAM2_ENST00000425221.2_Missense_Mutation_p.V208I|JAM2_ENST00000312957.5_Missense_Mutation_p.V244I	NM_001270407.1|NM_021219.3	NP_001257336.1|NP_067042.1	P57087	JAM2_HUMAN	junctional adhesion molecule 2	244					blood coagulation (GO:0007596)|extracellular matrix organization (GO:0030198)|leukocyte migration (GO:0050900)|negative regulation of cell adhesion (GO:0007162)|single organismal cell-cell adhesion (GO:0016337)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|tight junction (GO:0005923)		p.V244I(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(12)|prostate(1)|stomach(1)|urinary_tract(1)	19						CATAGCAGCCGTAGTAGTTGT	0.393																																						ENST00000480456.1																			1	Substitution - Missense(1)	p.V244I(1)	prostate(1)	endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(12)|prostate(1)|stomach(1)|urinary_tract(1)	19						c.(730-732)Gta>Ata		junctional adhesion molecule 2																																				SO:0001583	missense	58494				blood coagulation|cell-cell adhesion|leukocyte migration	integral to plasma membrane|tight junction		g.chr21:27078323G>A	AF255910	CCDS42911.1, CCDS58787.1, CCDS58788.1	21q21.2	2013-01-11			ENSG00000154721	ENSG00000154721		"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / I-set domain containing"	14686	protein-coding gene	gene with protein product		606870		C21orf43		10779521, 10945976	Standard	NM_021219		Approved	VE-JAM, JAM-B, JAMB, CD322	uc031rvc.1	P57087	OTTHUMG00000078441	ENST00000480456.1:c.730G>A	21.37:g.27078323G>A	ENSP00000420419:p.Val244Ile					JAM2_ENST00000425221.2_Missense_Mutation_p.V208I|JAM2_ENST00000312957.5_Missense_Mutation_p.V244I|JAM2_ENST00000400532.1_Missense_Mutation_p.V244I	p.V244I	NM_001270407.1|NM_021219.3	NP_001257336.1|NP_067042.1	P57087	JAM2_HUMAN			7	1280	+			244					B2R6T9|B4DGT9|Q6UXG6|Q6YNC1	Missense_Mutation	SNP	ENST00000480456.1	37	c.730G>A	CCDS42911.1	.	.	.	.	.	.	.	.	.	.	G	13.46	2.244264	0.39697	.	.	ENSG00000154721	ENST00000480456;ENST00000400533;ENST00000400532;ENST00000400537;ENST00000312957;ENST00000425221	D;D;D;D	0.89050	-2.46;-2.46;-2.46;-2.46	4.93	3.09	0.35607	.	0.119571	0.56097	D	0.000034	D	0.84710	0.5532	M	0.69463	2.115	0.09310	N	1	B;B;B;B;B	0.30937	0.08;0.1;0.301;0.195;0.195	B;B;B;B;B	0.20577	0.019;0.026;0.019;0.013;0.03	T	0.76002	-0.3118	10	0.52906	T	0.07	.	9.0699	0.36486	0.0794:0.0:0.7742:0.1464	.	208;244;244;244;244	B4DGT9;A8MQ45;A8MXS1;A8MTB0;P57087	.;.;.;.;JAM2_HUMAN	I	244;244;244;244;244;208	ENSP00000420419:V244I;ENSP00000383376:V244I;ENSP00000318416:V244I;ENSP00000392611:V208I	ENSP00000318416:V244I	V	+	1	0	JAM2	26000194	0.989000	0.36119	0.007000	0.13788	0.997000	0.91878	4.703000	0.61824	0.656000	0.30886	0.650000	0.86243	GTA		0.393	JAM2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000171347.1			16	121	0	0	0	0.055883	0	16	121					A	27078323	G	A	27078323	3	1	48	1	0	0	0	0	1	0	0	0	7943	1145	40	1	756	1	JAM2	21	27078323	Missense_Mutation	SNP	G	TCGA-EJ-5498-01A-01D-1576-08		27078323	21051572	48	2624											
DSCAM	1826	broad.mit.edu	37	chr21	41684282	41684282	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaaagggttgtatgaaaggCggaactgcaagaaaaaagaa	19	6	12	4	1	1	3	1	1	0	2	1	4	1	4	0	3	2	3	0	3	9	2	rs200014864		TCGA-EJ-5498-01A-01D-1576-08	TCGA-EJ-5498-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4e02da-87be-46e2-b4bd-555ca1440808	b8daddf3-4dbc-47b1-b5bf-777c46131bb8	g.chr21:41684282C>T	ENST00000400454.1	-	9	2265	c.1788G>A	c.(1786-1788)ccG>ccA	p.P596P		NM_001271534.1|NM_001389.3	NP_001258463.1|NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	596	Ig-like C2-type 7.				cell adhesion (GO:0007155)|dendrite morphogenesis (GO:0048813)|dendrite self-avoidance (GO:0070593)|locomotory behavior (GO:0007626)|negative regulation of cell adhesion (GO:0007162)|nervous system development (GO:0007399)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of phosphorylation (GO:0042327)|post-embryonic retina morphogenesis in camera-type eye (GO:0060060)	axon (GO:0030424)|extracellular region (GO:0005576)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)		p.P596P(2)		NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				GTATGAAAGGCGGAACTGCAA	0.448													C|||	1	0.000199681	8e-04	0	5008	,	,		17079	0		0	False		,,,				2504	0				Melanoma(134;970 1778 1785 21664 32388)	ENST00000400454.1																			2	Substitution - coding silent(2)	p.P596P(2)	large_intestine(1)|prostate(1)	NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142						c.(1786-1788)ccG>ccA		Down syndrome cell adhesion molecule		C		1,3731		0,1,1865	32	30	31		1788	-3.8	0.9	21		31	0,8210		0,0,4105	no	coding-synonymous	DSCAM	NM_001389.3		0,1,5970	TT,TC,CC		0.0,0.0268,0.0084		596/2013	41684282	1,11941	1866	4105	5971	SO:0001819	synonymous_variant	1826				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding	g.chr21:41684282C>T	AF023449	CCDS42929.1	21q22.2-q22.3	2013-02-11			ENSG00000171587	ENSG00000171587		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	3039	protein-coding gene	gene with protein product		602523				9426258	Standard	NM_001271534		Approved	CHD2-42, CHD2-52	uc002yyq.1	O60469	OTTHUMG00000086732	ENST00000400454.1:c.1788G>A	21.37:g.41684282C>T							p.P596P	NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN			9	2265	-		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)	596			Ig-like C2-type 7.		O60468	Silent	SNP	ENST00000400454.1	37	c.1788G>A	CCDS42929.1																																																																																				0.448	DSCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195029.1	NM_001389		5	26	0	0	0	0.014758	0	5	26					T	41684282	C	T	41684282	2	4	48	1	0	0	0	0	0	0	0	1	4768	755	27	1		1	DSCAM	21	41684282	Silent	SNP	C	TCGA-EJ-5498-01A-01D-1576-08	14605959	41684282	6445613	49	2625											
ARHGAP6	395	broad.mit.edu	37	chrX	11204545	11204545	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtgatagaatccactgacaTggcaccctgcaagtgacaca	13	7	10	11	0	0	4	0	3	0	1	1	4	1	4	2	2	1	2	2	2	3	1			TCGA-EJ-5498-01A-01D-1576-08	TCGA-EJ-5498-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4e02da-87be-46e2-b4bd-555ca1440808	b8daddf3-4dbc-47b1-b5bf-777c46131bb8	g.chrX:11204545T>C	ENST00000337414.4	-	5	1956	c.1084A>G	c.(1084-1086)Atg>Gtg	p.M362V	ARHGAP6_ENST00000413512.3_Missense_Mutation_p.M171V|ARHGAP6_ENST00000380718.1_Missense_Mutation_p.M362V|ARHGAP6_ENST00000303025.6_Missense_Mutation_p.M159V|ARHGAP6_ENST00000380732.3_Missense_Mutation_p.M394V|ARHGAP6_ENST00000380736.1_Missense_Mutation_p.M159V|ARHGAP6_ENST00000534860.1_Missense_Mutation_p.M187V	NM_013427.2	NP_038286.2	O43182	RHG06_HUMAN	Rho GTPase activating protein 6	362					actin filament polymerization (GO:0030041)|activation of phospholipase C activity (GO:0007202)|focal adhesion assembly (GO:0048041)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of stress fiber assembly (GO:0051497)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of signal transduction (GO:0009967)|regulation of GTPase activity (GO:0043087)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|cytoplasm (GO:0005737)|cytosol (GO:0005829)	phospholipase activator activity (GO:0016004)|phospholipase binding (GO:0043274)|Rho GTPase activator activity (GO:0005100)|SH3/SH2 adaptor activity (GO:0005070)	p.M362V(2)		cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						TCCACTGACATGGCACCCTGC	0.443																																						ENST00000337414.4																			2	Substitution - Missense(2)	p.M362V(2)	prostate(2)	cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						c.(1084-1086)Atg>Gtg		Rho GTPase activating protein 6							102	95	97					X																	11204545		2203	4300	6503	SO:0001583	missense	395				actin filament polymerization|activation of phospholipase C activity|negative regulation of focal adhesion assembly|negative regulation of stress fiber assembly|Rho protein signal transduction	actin filament|cytosol	phospholipase activator activity|phospholipase binding|Rho GTPase activator activity|SH3 domain binding|SH3/SH2 adaptor activity	g.chrX:11204545T>C	AF012272	CCDS14140.1, CCDS14141.1, CCDS14142.1	Xp22.3	2008-02-05			ENSG00000047648	ENSG00000047648		"Rho GTPase activating proteins"	676	protein-coding gene	gene with protein product		300118				9417914	Standard	XM_005274507		Approved	rhoGAPX-1	uc004cup.1	O43182	OTTHUMG00000021134	ENST00000337414.4:c.1084A>G	X.37:g.11204545T>C	ENSP00000338967:p.Met362Val					ARHGAP6_ENST00000413512.3_Missense_Mutation_p.M171V|ARHGAP6_ENST00000534860.1_Missense_Mutation_p.M187V|ARHGAP6_ENST00000380736.1_Missense_Mutation_p.M159V|ARHGAP6_ENST00000303025.6_Missense_Mutation_p.M159V|ARHGAP6_ENST00000380718.1_Missense_Mutation_p.M362V|ARHGAP6_ENST00000380732.3_Missense_Mutation_p.M394V	p.M362V	NM_013427.2	NP_038286.2	O43182	RHG06_HUMAN			5	1956	-			362					B2RWQ0|O43437|Q9P1B3|Q9UK81|Q9UK82	Missense_Mutation	SNP	ENST00000337414.4	37	c.1084A>G	CCDS14140.1	.	.	.	.	.	.	.	.	.	.	T	11.37	1.619212	0.28801	.	.	ENSG00000047648	ENST00000534860;ENST00000380736;ENST00000303025;ENST00000337414;ENST00000380717;ENST00000380718;ENST00000413512;ENST00000380732	T;T;T;T;T;T;T;T	0.21734	2.0;2.0;2.0;2.0;1.99;2.01;2.06;2.07	5.51	4.29	0.51040	.	0.000000	0.64402	D	0.000003	T	0.09949	0.0244	N	0.11106	0.095	0.58432	D	0.999994	B;B;B;B;B	0.28605	0.002;0.01;0.054;0.217;0.217	B;B;B;B;B	0.24974	0.001;0.008;0.028;0.057;0.057	T	0.18903	-1.0322	10	0.12430	T	0.62	.	11.0951	0.48139	0.14:0.0:0.0:0.86	.	171;159;362;362;362	B7Z8H7;O43182-5;O43182-2;O43182;A8KAL3	.;.;.;RHG06_HUMAN;.	V	187;159;159;362;198;362;171;394	ENSP00000438135:M187V;ENSP00000370112:M159V;ENSP00000302312:M159V;ENSP00000338967:M362V;ENSP00000370093:M198V;ENSP00000370094:M362V;ENSP00000389394:M171V;ENSP00000370108:M394V	ENSP00000302312:M159V	M	-	1	0	ARHGAP6	11114466	0.999000	0.42202	1.000000	0.80357	0.987000	0.75469	3.055000	0.49916	1.852000	0.53769	0.486000	0.48141	ATG		0.443	ARHGAP6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055760.2	NM_013427		58	123	0	0	0	0.139131	0	58	123					C	11204545	T	C	11204545	3	2	48	1	0	0	0	0	1	0	0	0	887	1464	51	4	1998	4	ARHGAP6	23	11204545	Missense_Mutation	SNP	T	TCGA-EJ-5498-01A-01D-1576-08		11204545	144066015	50	2626											
CSMD2	114784	broad.mit.edu	37	chr1	34015923	34015923	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagacatctgggagtgaggcGgggagcccggatggccacag	9	4	18	10	2	1	2	0	1	1	1	1	5	1	5	2	6	1	0	2	6	0	0			TCGA-EJ-5499-01A-01D-1576-08	TCGA-EJ-5499-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eabee59a-01ca-476c-970c-72f69b24f6f1	f1ea82ad-41dd-4c0e-9328-73dd0548d125	g.chr1:34015923G>A	ENST00000373381.4	-	56	8947	c.8771C>T	c.(8770-8772)cCg>cTg	p.P2924L		NM_001281956.1|NM_052896.3	NP_001268885.1|NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	2899	Sushi 21. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.P2780L(1)		NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				GGAGTGAGGCGGGGAGCCCGG	0.572																																						ENST00000373381.4																			1	Substitution - Missense(1)	p.P2780L(1)	prostate(1)	NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246						c.(8770-8772)cCg>cTg		CUB and Sushi multiple domains 2							55	54	55					1																	34015923		2203	4300	6503	SO:0001583	missense	114784					integral to membrane|plasma membrane	protein binding	g.chr1:34015923G>A	AY210418	CCDS380.1, CCDS60082.1	1p34.3	2014-01-28			ENSG00000121904	ENSG00000121904			19290	protein-coding gene	gene with protein product		608398				11472063, 11572484	Standard	NM_001281956		Approved	KIAA1884	uc001bxn.1	Q7Z408	OTTHUMG00000011135	ENST00000373381.4:c.8771C>T	1.37:g.34015923G>A	ENSP00000362479:p.Pro2924Leu						p.P2924L	NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN			56	8947	-		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)	2899			Sushi 21.		B1AM50|E7EUA6|Q53TY4|Q5VT59|Q8N963|Q96Q03|Q9H4V7|Q9H4V8|Q9H4V9|Q9H4W0|Q9H4W1|Q9H4W2|Q9H4W3|Q9H4W4|Q9HCY5|Q9HCY6|Q9HCY7	Missense_Mutation	SNP	ENST00000373381.4	37	c.8771C>T		.	.	.	.	.	.	.	.	.	.	G	24.9	4.582217	0.86748	.	.	ENSG00000121904	ENST00000373381	T	0.61859	0.07	5.71	5.71	0.89125	Complement control module (2);Sushi/SCR/CCP (3);	0.059225	0.64402	D	0.000002	T	0.76033	0.3931	M	0.79614	2.46	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.70502	-0.4854	10	0.17832	T	0.49	.	18.9209	0.92525	0.0:0.0:1.0:0.0	.	2780;2924	Q7Z408;E7EUA6	CSMD2_HUMAN;.	L	2924	ENSP00000362479:P2924L	ENSP00000241312:P2780L	P	-	2	0	CSMD2	33788510	1.000000	0.71417	0.989000	0.46669	0.401000	0.30781	9.833000	0.99426	2.720000	0.93068	0.650000	0.86243	CCG		0.572	CSMD2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_052896		23	92	0	0	0	1	0	23	92					A	34015923	G	A	34015923	3	1	49	1	0	0	0	0	1	0	0	0	3945	1116	39	2	2184	2	CSMD2	1	34015923	Missense_Mutation	SNP	G	TCGA-EJ-5499-01A-01D-1576-08		34015923	215234698	1	2627											
KPRP	448834	broad.mit.edu	37	chr1	152732100	152732100	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagatccagtgccgcctgccGctccaacagtgctgcgtcaa	8	7	10	16	3	1	1	1	0	0	1	3	1	3	1	5	0	5	2	5	0	2	0			TCGA-EJ-5499-01A-01D-1576-08	TCGA-EJ-5499-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eabee59a-01ca-476c-970c-72f69b24f6f1	f1ea82ad-41dd-4c0e-9328-73dd0548d125	g.chr1:152732100G>A	ENST00000606109.1	+	1	64	c.36G>A	c.(34-36)ccG>ccA	p.P12P	KPRP_ENST00000368773.1_Silent_p.P12P			Q5T749	KPRP_HUMAN	keratinocyte proline-rich protein	12	Gln-rich.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)		p.P12P(2)		NS(1)|breast(1)|endometrium(9)|kidney(1)|large_intestine(10)|lung(21)|ovary(6)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCCGCCTGCCGCTCCAACAGT	0.582																																						ENST00000368773.1																			2	Substitution - coding silent(2)	p.P12P(2)	prostate(1)|lung(1)	NS(1)|breast(1)|endometrium(9)|kidney(1)|large_intestine(10)|lung(21)|ovary(6)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						c.(34-36)ccG>ccA		keratinocyte proline-rich protein							71	70	71					1																	152732100		2203	4300	6503	SO:0001819	synonymous_variant	448834					cytoplasm		g.chr1:152732100G>A	AY960854	CCDS30862.1	1q21.3	2008-02-05	2007-02-02	2006-12-07	ENSG00000203786	ENSG00000203786			31823	protein-coding gene	gene with protein product		613260	"chromosome 1 open reading frame 45"	C1orf45		16297201	Standard	NM_001025231		Approved		uc001fal.1	Q5T749	OTTHUMG00000012402	ENST00000606109.1:c.36G>A	1.37:g.152732100G>A						KPRP_ENST00000606109.1_Silent_p.P12P	p.P12P	NM_001025231.1	NP_001020402.1	Q5T749	KPRP_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	94	+	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		12			Gln-rich.			Silent	SNP	ENST00000606109.1	37	c.36G>A	CCDS30862.1																																																																																				0.582	KPRP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034522.2	NM_001025231		28	92	0	0	0	1	0	28	92					A	152732100	G	A	152732100	2	1	49	1	0	0	0	0	0	0	0	1	8436	1074	38	1		1	KPRP	1	152732100	Silent	SNP	G	TCGA-EJ-5499-01A-01D-1576-08	118716177	152732100	96518521	2	2628											
SNTG2	54221	broad.mit.edu	37	chr2	1133461	1133461	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gtcatctgttcaggttaatgGcatacatgtagaaaatgcaa	14	12	9	6	0	3	1	2	0	1	1	3	1	3	1	0	2	2	5	0	2	6	4			TCGA-EJ-5499-01A-01D-1576-08	TCGA-EJ-5499-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eabee59a-01ca-476c-970c-72f69b24f6f1	f1ea82ad-41dd-4c0e-9328-73dd0548d125	g.chr2:1133461G>A	ENST00000308624.5	+	6	506	c.377G>A	c.(376-378)gGc>gAc	p.G126D	SNTG2_ENST00000407292.1_Intron	NM_018968.3	NP_061841.2	Q9NY99	SNTG2_HUMAN	syntrophin, gamma 2	126	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				central nervous system development (GO:0007417)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|syntrophin complex (GO:0016013)	PDZ domain binding (GO:0030165)	p.G126D(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.00469)		all cancers(51;0.0178)|OV - Ovarian serous cystadenocarcinoma(76;0.07)|Epithelial(75;0.0864)|GBM - Glioblastoma multiforme(21;0.173)		CAGGTTAATGGCATACATGTA	0.269																																						ENST00000308624.5																			1	Substitution - Missense(1)	p.G126D(1)	prostate(1)	breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						c.(376-378)gGc>gAc		syntrophin, gamma 2							174	165	168					2																	1133461		1840	4100	5940	SO:0001583	missense	54221				central nervous system development	cytoplasm|cytoskeleton|sarcolemma|syntrophin complex	actin binding|PDZ domain binding	g.chr2:1133461G>A	AJ003029	CCDS46220.1	2p25	2008-05-23			ENSG00000172554	ENSG00000172554			13741	protein-coding gene	gene with protein product		608715				10747910	Standard	NM_018968		Approved	SYN5, G2SYN	uc002qwq.3	Q9NY99	OTTHUMG00000151370	ENST00000308624.5:c.377G>A	2.37:g.1133461G>A	ENSP00000311837:p.Gly126Asp					SNTG2_ENST00000407292.1_Intron	p.G126D	NM_018968.3	NP_061841.2	Q9NY99	SNTG2_HUMAN		all cancers(51;0.0178)|OV - Ovarian serous cystadenocarcinoma(76;0.07)|Epithelial(75;0.0864)|GBM - Glioblastoma multiforme(21;0.173)	6	506	+	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.00469)	126			PDZ.		Q05AH5	Missense_Mutation	SNP	ENST00000308624.5	37	c.377G>A	CCDS46220.1	.	.	.	.	.	.	.	.	.	.	G	19.11	3.763376	0.69763	.	.	ENSG00000172554	ENST00000308624	T	0.41400	1.0	4.69	4.69	0.59074	PDZ/DHR/GLGF (4);	0.000000	0.85682	D	0.000000	T	0.61035	0.2315	M	0.64080	1.96	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.63088	-0.6715	10	0.52906	T	0.07	.	14.552	0.68073	0.0:0.0:1.0:0.0	.	126	Q9NY99	SNTG2_HUMAN	D	126	ENSP00000311837:G126D	ENSP00000311837:G126D	G	+	2	0	SNTG2	1123461	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	5.176000	0.65026	2.144000	0.66660	0.460000	0.39030	GGC		0.269	SNTG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322454.1	NM_018968		19	157	0	0	0	1	0	19	157					A	1133461	G	A	1133461	3	1	49	1	0	0	0	0	1	0	0	0	14875	1203	42	3	399	3	SNTG2	2	1133461	Missense_Mutation	SNP	G	TCGA-EJ-5499-01A-01D-1576-08		1133461	242065912	3	2629											
SCN2A	6326	broad.mit.edu	37	chr2	166165901	166165901	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gacctgggcaatgtctcagcGttgagaacattcagagttct	10	11	11	9	1	3	2	2	1	2	2	4	4	3	2	1	1	2	3	1	1	2	3	rs370724112	byFrequency	TCGA-EJ-5499-01A-01D-1576-08	TCGA-EJ-5499-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eabee59a-01ca-476c-970c-72f69b24f6f1	f1ea82ad-41dd-4c0e-9328-73dd0548d125	g.chr2:166165901G>A	ENST00000375437.2	+	6	935	c.645G>A	c.(643-645)gcG>gcA	p.A215A	SCN2A_ENST00000283256.6_Silent_p.A215A|SCN2A_ENST00000357398.3_Intron|SCN2A_ENST00000375427.2_Intron	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	215					intrinsic apoptotic signaling pathway in response to osmotic stress (GO:0008627)|membrane depolarization during action potential (GO:0086010)|myelination (GO:0042552)|neuron apoptotic process (GO:0051402)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon (GO:0030424)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intrinsic component of plasma membrane (GO:0031226)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|sodium channel complex (GO:0034706)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)	p.A215A(2)		NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)|Propofol(DB00818)|Valproic Acid(DB00313)|Zonisamide(DB00909)	ATGTCTCAGCGTTGAGAACAT	0.438													G|||	2	0.000399361	0.0015	0	5008	,	,		18689	0		0	False		,,,				2504	0					ENST00000375437.2																			2	Substitution - coding silent(2)	p.A215A(2)	prostate(1)|lung(1)	NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118						c.(643-645)gcG>gcA		sodium channel, voltage-gated, type II, alpha subunit	Lamotrigine(DB00555)						101	92	95					2																	166165901		2203	4299	6502	SO:0001819	synonymous_variant	6326				myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:166165901G>A	AB208888	CCDS33313.1, CCDS33314.1	2q24.3	2012-02-26	2007-01-23	2007-01-23	ENSG00000136531	ENSG00000136531		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10588	protein-coding gene	gene with protein product		182390	"sodium channel, voltage-gated, type II, alpha 2 polypeptide", "sodium channel, voltage-gated, type II, alpha 1 polypeptide"	SCN2A1, SCN2A2		1317301, 16382098	Standard	XM_005246753		Approved	Nav1.2, HBSCII, HBSCI	uc002ude.3	Q99250	OTTHUMG00000044172	ENST00000375437.2:c.645G>A	2.37:g.166165901G>A						SCN2A_ENST00000357398.3_Intron|SCN2A_ENST00000283256.6_Silent_p.A215A|SCN2A_ENST00000375427.2_Intron	p.A215A	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN			6	935	+			215					A6NC14|A6NIQ5|Q14472|Q53T77|Q9BZC9|Q9BZD0	Silent	SNP	ENST00000375437.2	37	c.645G>A	CCDS33314.1																																																																																				0.438	SCN2A-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000102659.2	NM_021007		7	114	0	0	0	1	0	7	114					A	166165901	G	A	166165901	2	1	49	1	0	0	0	0	0	0	0	1	13916	1132	40	1		1	SCN2A	2	166165901	Silent	SNP	G	TCGA-EJ-5499-01A-01D-1576-08	165032440	166165901	77033472	4	2630											
TNS1	7145	broad.mit.edu	37	chr2	218679689	218679689	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cttagaagtgtcctggacaaActtcactttagcccgcgtct	9	12	8	12	2	2	1	1	0	1	1	3	2	3	2	2	1	2	0	2	1	4	4			TCGA-EJ-5499-01A-01D-1576-08	TCGA-EJ-5499-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eabee59a-01ca-476c-970c-72f69b24f6f1	f1ea82ad-41dd-4c0e-9328-73dd0548d125	g.chr2:218679689A>C	ENST00000171887.4	-	25	4815	c.4363T>G	c.(4363-4365)Ttt>Gtt	p.F1455V	TNS1_ENST00000430930.1_Missense_Mutation_p.F1434V|TNS1_ENST00000419504.1_Missense_Mutation_p.F1442V	NM_022648.4	NP_072174.3	Q9HBL0	TENS1_HUMAN	tensin 1	1455					cell-substrate junction assembly (GO:0007044)|fibroblast migration (GO:0010761)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)	poly(A) RNA binding (GO:0044822)	p.F1455V(1)		breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(23)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	79		Renal(207;0.0483)|Lung NSC(271;0.213)		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)		TCCTGGACAAACTTCACTTTA	0.498																																						ENST00000171887.4																			1	Substitution - Missense(1)	p.F1455V(1)	prostate(1)	breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(23)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	79						c.(4363-4365)Ttt>Gtt		tensin 1							80	70	73					2																	218679689		2203	4300	6503	SO:0001583	missense	7145					cytoplasm|cytoskeleton|focal adhesion	actin binding	g.chr2:218679689A>C	AB209238	CCDS2407.1	2q35-q36	2014-06-13	2005-05-13	2005-05-13	ENSG00000079308	ENSG00000079308		"Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs", "SH2 domain containing"	11973	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 155"	600076	"tensin", "matrix-remodelling associated 6"	TNS, MXRA6			Standard	NM_022648		Approved	DKFZp586K0617, PPP1R155	uc002vgt.2	Q9HBL0	OTTHUMG00000133056	ENST00000171887.4:c.4363T>G	2.37:g.218679689A>C	ENSP00000171887:p.Phe1455Val					TNS1_ENST00000430930.1_Missense_Mutation_p.F1434V|TNS1_ENST00000419504.1_Missense_Mutation_p.F1442V	p.F1455V	NM_022648.4	NP_072174.3	Q9HBL0	TENS1_HUMAN		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)	25	4815	-		Renal(207;0.0483)|Lung NSC(271;0.213)	1455					Q4ZG71|Q6IPI5	Missense_Mutation	SNP	ENST00000171887.4	37	c.4363T>G	CCDS2407.1	.	.	.	.	.	.	.	.	.	.	A	29.8	5.034487	0.93575	.	.	ENSG00000079308	ENST00000171887;ENST00000446688;ENST00000419504;ENST00000430930	T;T;T;T	0.62232	0.04;0.04;0.04;0.04	5.36	5.36	0.76844	.	0.000000	0.85682	D	0.000000	T	0.79370	0.4434	M	0.76838	2.35	0.80722	D	1	D;D;D	0.76494	0.999;0.994;0.998	D;D;D	0.80764	0.994;0.977;0.989	T	0.82311	-0.0520	10	0.87932	D	0	.	15.5286	0.75932	1.0:0.0:0.0:0.0	.	1455;1434;1442	Q9HBL0;E9PGF5;E9PF55	TENS1_HUMAN;.;.	V	1455;593;1442;1434	ENSP00000171887:F1455V;ENSP00000394171:F593V;ENSP00000408724:F1442V;ENSP00000406016:F1434V	ENSP00000171887:F1455V	F	-	1	0	TNS1	218387934	1.000000	0.71417	0.989000	0.46669	0.992000	0.81027	9.051000	0.93849	2.257000	0.74773	0.460000	0.39030	TTT		0.498	TNS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256672.2	NM_022648		16	34	0	0	0	1	0	16	34					C	218679689	A	C	218679689	3	2	49	1	0	0	0	0	1	0	0	0	16340	43	2	5	880	5	TNS1	2	218679689	Missense_Mutation	SNP	A	TCGA-EJ-5499-01A-01D-1576-08	52513788	218679689	24519684	5	2631											
CPNE9	151835	broad.mit.edu	37	chr3	9771302	9771302	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agcagctgctgtcctatatgCgcaccagagacatccagcct	10	8	9	14	1	0	1	0	0	0	1	2	2	2	1	4	0	5	4	4	0	2	2			TCGA-EJ-5499-01A-01D-1576-08	TCGA-EJ-5499-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eabee59a-01ca-476c-970c-72f69b24f6f1	f1ea82ad-41dd-4c0e-9328-73dd0548d125	g.chr3:9771302C>T	ENST00000383832.3	+	21	1778	c.1588C>T	c.(1588-1590)Cgc>Tgc	p.R530C	BRPF1_ENST00000383829.2_5'Flank|BRPF1_ENST00000424362.1_5'Flank|BRPF1_ENST00000433861.2_5'Flank|BRPF1_ENST00000302054.3_5'Flank	NM_153635.2	NP_705899.2	Q8IYJ1	CPNE9_HUMAN	copine family member IX	530						extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)		p.R530C(2)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	16	Medulloblastoma(99;0.227)					GTCCTATATGCGCACCAGAGA	0.627																																						ENST00000383832.3																			2	Substitution - Missense(2)	p.R530C(2)	endometrium(1)|central_nervous_system(1)	breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	16						c.(1588-1590)Cgc>Tgc		copine family member IX							56	65	62					3																	9771302		2131	4240	6371	SO:0001583	missense	151835							g.chr3:9771302C>T		CCDS2574.2	3p25.3	2008-10-30			ENSG00000144550	ENSG00000144550			24336	protein-coding gene	gene with protein product						9430674	Standard	XM_006712990		Approved	KIAA4217	uc003bsd.3	Q8IYJ1	OTTHUMG00000128418	ENST00000383832.3:c.1588C>T	3.37:g.9771302C>T	ENSP00000373343:p.Arg530Cys						p.R530C	NM_153635.2	NP_705899.2	Q8IYJ1	CPNE9_HUMAN			21	1778	+	Medulloblastoma(99;0.227)		530					A1L430|A6NDX6|A8MSP8	Missense_Mutation	SNP	ENST00000383832.3	37	c.1588C>T	CCDS2574.2	.	.	.	.	.	.	.	.	.	.	C	24.9	4.584898	0.86748	.	.	ENSG00000144550	ENST00000383832	T	0.06371	3.31	4.98	4.98	0.66077	.	0.489246	0.18396	U	0.142517	T	0.21145	0.0509	M	0.88450	2.955	0.80722	D	1	D	0.61080	0.989	P	0.52343	0.696	T	0.01652	-1.1303	10	0.87932	D	0	.	11.4504	0.50149	0.3071:0.6929:0.0:0.0	.	530	Q8IYJ1	CPNE9_HUMAN	C	530	ENSP00000373343:R530C	ENSP00000373343:R530C	R	+	1	0	CPNE9	9746302	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.285000	0.72658	2.278000	0.76064	0.655000	0.94253	CGC		0.627	CPNE9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250205.4	NM_001033755		14	78	0	0	0	1	0	14	78					T	9771302	C	T	9771302	3	4	49	1	0	0	0	0	1	0	0	0	3819	768	27	1	1666	1	CPNE9	3	9771302	Missense_Mutation	SNP	C	TCGA-EJ-5499-01A-01D-1576-08		9771302	188251128	6	2632											
SMC4	10051	broad.mit.edu	37	chr3	160141224	160141224	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tacttttagatggctgtatgGgcgaaaaagatgaccgaaat	14	11	11	5	2	0	3	0	1	0	2	0	5	0	3	1	2	1	2	1	2	6	4			TCGA-EJ-5499-01A-01D-1576-08	TCGA-EJ-5499-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eabee59a-01ca-476c-970c-72f69b24f6f1	f1ea82ad-41dd-4c0e-9328-73dd0548d125	g.chr3:160141224G>C	ENST00000357388.3	+	14	2482	c.2031G>C	c.(2029-2031)tgG>tgC	p.W677C	RP11-432B6.3_ENST00000483754.1_Intron|SMC4_ENST00000462787.1_Missense_Mutation_p.W677C|SMC4_ENST00000469762.1_Missense_Mutation_p.W652C|SMC4_ENST00000344722.5_Missense_Mutation_p.W677C|SMC4_ENST00000360111.2_Missense_Mutation_p.W677C	NM_001002800.1	NP_001002800.1	Q9NTJ3	SMC4_HUMAN	structural maintenance of chromosomes 4	677	Flexible hinge.				kinetochore organization (GO:0051383)|meiotic chromosome condensation (GO:0010032)|meiotic chromosome segregation (GO:0045132)|mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)|mitotic sister chromatid segregation (GO:0000070)	condensin complex (GO:0000796)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein heterodimerization activity (GO:0046982)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(15)|lung(20)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			TGGCTGTATGGGCGAAAAAGA	0.279																																						ENST00000357388.3																			0				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(15)|lung(20)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						c.(2029-2031)tgG>tgC		structural maintenance of chromosomes 4							54	59	57					3																	160141224		2082	4267	6349	SO:0001583	missense	10051				cell division|mitotic chromosome condensation	condensin complex|cytoplasm|nucleus	ATP binding|protein heterodimerization activity	g.chr3:160141224G>C	AF092564	CCDS3189.1, CCDS75046.1	3q26.1	2006-07-06	2006-07-06	2006-07-06	ENSG00000113810	ENSG00000113810		"Structural maintenance of chromosomes proteins"	14013	protein-coding gene	gene with protein product		605575	"SMC4 (structural maintenance of chromosomes 4, yeast)-like 1", "SMC4 structural maintenance of chromosomes 4-like 1 (yeast)"	SMC4L1		9789013, 10319587	Standard	NM_005496		Approved	hCAP-C, CAP-C	uc003fdh.3	Q9NTJ3	OTTHUMG00000159006	ENST00000357388.3:c.2031G>C	3.37:g.160141224G>C	ENSP00000349961:p.Trp677Cys					SMC4_ENST00000344722.5_Missense_Mutation_p.W677C|RP11-432B6.3_ENST00000483754.1_Intron|SMC4_ENST00000462787.1_Missense_Mutation_p.W677C|SMC4_ENST00000469762.1_Missense_Mutation_p.W652C|SMC4_ENST00000360111.2_Missense_Mutation_p.W677C	p.W677C	NM_001002800.1	NP_001002800.1	Q9NTJ3	SMC4_HUMAN	Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)		14	2482	+			677			Flexible hinge.		A6NLT9|D3DNL8|O95752|Q8NDL4|Q9UNT9	Missense_Mutation	SNP	ENST00000357388.3	37	c.2031G>C	CCDS3189.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.946917	0.73672	.	.	ENSG00000113810	ENST00000357388;ENST00000360111;ENST00000469762;ENST00000462787;ENST00000344722;ENST00000545277	D;D;D;D;D	0.85556	-2.0;-2.0;-2.0;-2.0;-2.0	5.57	4.68	0.58851	SMCs flexible hinge (3);RecF/RecN/SMC (1);	0.052027	0.85682	D	0.000000	D	0.89653	0.6777	L	0.55481	1.735	0.80722	D	1	D;D;D;D	0.89917	1.0;0.974;1.0;1.0	D;D;D;D	0.72982	0.957;0.91;0.979;0.975	D	0.88093	0.2814	10	0.38643	T	0.18	-6.298	15.3563	0.74428	0.0704:0.0:0.9296:0.0	.	677;652;652;677	Q9NTJ3-2;B3KXX5;E9PD53;Q9NTJ3	.;.;.;SMC4_HUMAN	C	677;677;652;677;677;271	ENSP00000349961:W677C;ENSP00000353225:W677C;ENSP00000417964:W652C;ENSP00000420734:W677C;ENSP00000341382:W677C	ENSP00000341382:W677C	W	+	3	0	SMC4	161623918	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.735000	0.84939	2.785000	0.95823	0.650000	0.86243	TGG		0.279	SMC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352862.1			4	253	0	0	0	1	0	4	253					C	160141224	G	C	160141224	3	2	49	1	0	0	0	0	1	0	0	0	14785	1241	43	5	2081	5	SMC4	3	160141224	Missense_Mutation	SNP	G	TCGA-EJ-5499-01A-01D-1576-08	150369922	160141224	37881206	7	2633											
MFN1	55669	broad.mit.edu	37	chr3	179069810	179069810	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ctcggagacacatgaaggtgGcattttttggcaggtaatta	11	12	12	6	1	0	2	0	1	0	1	1	3	0	2	0	5	0	3	0	5	3	5			TCGA-EJ-5499-01A-01D-1576-08	TCGA-EJ-5499-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eabee59a-01ca-476c-970c-72f69b24f6f1	f1ea82ad-41dd-4c0e-9328-73dd0548d125	g.chr3:179069810G>A	ENST00000471841.1	+	3	361	c.235G>A	c.(235-237)Gca>Aca	p.A79T	MFN1_ENST00000280653.7_Missense_Mutation_p.A79T|MFN1_ENST00000263969.5_Missense_Mutation_p.A79T	NM_033540.2	NP_284941	Q8IWA4	MFN1_HUMAN	mitofusin 1	79	Dynamin-type G.				mitochondrial fusion (GO:0008053)	integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|ovary(3)|prostate(1)|urinary_tract(1)	31	all_cancers(143;1.67e-16)|Ovarian(172;0.0172)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.00225)|BRCA - Breast invasive adenocarcinoma(182;0.0923)			CATGAAGGTGGCATTTTTTGG	0.378																																						ENST00000471841.1																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|ovary(3)|prostate(1)|urinary_tract(1)	31						c.(235-237)Gca>Aca		mitofusin 1							148	154	152					3																	179069810		2203	4300	6503	SO:0001583	missense	55669				mitochondrial fusion	integral to membrane|mitochondrial outer membrane	GTP binding|GTPase activity	g.chr3:179069810G>A	AF054986	CCDS3228.1	3q26.32	2006-12-13			ENSG00000171109	ENSG00000171109			18262	protein-coding gene	gene with protein product		608506				8358434, 11181170	Standard	NM_033540		Approved	FLJ20693	uc003fjs.3	Q8IWA4	OTTHUMG00000157385	ENST00000471841.1:c.235G>A	3.37:g.179069810G>A	ENSP00000420617:p.Ala79Thr					MFN1_ENST00000280653.7_Missense_Mutation_p.A79T|MFN1_ENST00000263969.5_Missense_Mutation_p.A79T	p.A79T	NM_033540.2	NP_284941.2	Q8IWA4	MFN1_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.00225)|BRCA - Breast invasive adenocarcinoma(182;0.0923)		3	361	+	all_cancers(143;1.67e-16)|Ovarian(172;0.0172)|Breast(254;0.155)		79					B2RAR1|D3DNR6|O15323|O60639|Q9BZB5|Q9NWQ2	Missense_Mutation	SNP	ENST00000471841.1	37	c.235G>A	CCDS3228.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.095365	0.76870	.	.	ENSG00000171109	ENST00000471841;ENST00000280653;ENST00000539169;ENST00000467174;ENST00000263969	D;D;D;D	0.96967	-4.19;-4.19;-4.19;-4.19	5.16	5.16	0.70880	Dynamin, GTPase domain (1);	0.101398	0.64402	D	0.000003	D	0.98324	0.9444	M	0.89095	3.005	0.80722	D	1	D;D	0.71674	0.998;0.996	D;D	0.70227	0.968;0.938	D	0.98423	1.0578	10	0.46703	T	0.11	-9.1443	19.0061	0.92851	0.0:0.0:1.0:0.0	.	107;79	Q4AEJ4;Q8IWA4	.;MFN1_HUMAN	T	79	ENSP00000420617:A79T;ENSP00000280653:A79T;ENSP00000419134:A79T;ENSP00000263969:A79T	ENSP00000263969:A79T	A	+	1	0	MFN1	180552504	1.000000	0.71417	1.000000	0.80357	0.836000	0.47400	9.366000	0.97143	2.571000	0.86741	0.467000	0.42956	GCA		0.378	MFN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348654.2	NM_017927		6	466	0	0	0	1	0	6	466					A	179069810	G	A	179069810	3	1	49	1	0	0	0	0	1	0	0	0	9523	1203	42	3	241	3	MFN1	3	179069810	Missense_Mutation	SNP	G	TCGA-EJ-5499-01A-01D-1576-08	18928586	179069810	18952620	8	2634											
DCHS2	54798	broad.mit.edu	37	chr4	155254246	155254246	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcgcccgcgcccaggctgccGttgaggaacagcacccccag	7	4	12	18	4	0	1	0	1	0	0	1	2	0	2	5	2	3	3	5	2	1	1			TCGA-EJ-5499-01A-01D-1576-08	TCGA-EJ-5499-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eabee59a-01ca-476c-970c-72f69b24f6f1	f1ea82ad-41dd-4c0e-9328-73dd0548d125	g.chr4:155254246G>A	ENST00000357232.4	-	9	1616	c.1617C>T	c.(1615-1617)aaC>aaT	p.N539N	DCHS2_ENST00000507542.1_5'UTR|DCHS2_ENST00000339452.1_Silent_p.N1038N	NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	539	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.N1038N(1)|p.N539N(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		CCAGGCTGCCGTTGAGGAACA	0.672																																						ENST00000357232.3																			2	Substitution - coding silent(2)	p.N1038N(1)|p.N539N(1)	prostate(2)	NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176						c.(1615-1617)aaC>aaT		dachsous cadherin-related 2							25	28	27					4																	155254246		2203	4300	6503	SO:0001819	synonymous_variant	54798				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:155254246G>A	BC140919	CCDS3785.1, CCDS47150.1	4q32.1	2014-06-04	2013-10-04	2004-09-03		ENSG00000197410		"Cadherins / Cadherin-related"	23111	protein-coding gene	gene with protein product	"cadherin-related family member 7"	612486	"cadherin-like 27", "dachsous 2 (Drosophila)"	CDH27, PCDH23		15003449	Standard	NM_017639		Approved	CDHJ, FLJ20047, PCDHJ, CDHR7	uc003inw.2	Q6V1P9		ENST00000357232.4:c.1617C>T	4.37:g.155254246G>A						DCHS2_ENST00000507542.1_5'UTR|DCHS2_ENST00000339452.1_Silent_p.N1038N	p.N539N	NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN		LUSC - Lung squamous cell carcinoma(193;0.107)	9	1616	-	all_hematologic(180;0.208)	Renal(120;0.0854)	539			Cadherin 4.		B2RU14|E9PC11|Q4W5P9|Q6ZS61|Q9NXU8	Silent	SNP	ENST00000357232.4	37	c.1617C>T	CCDS3785.1																																																																																				0.672	DCHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365281.2	NM_001142552		4	49	0	0	0	1	0	4	49					A	155254246	G	A	155254246	2	1	49	1	0	0	0	0	0	0	0	1	4288	1136	40	1		1	DCHS2	4	155254246	Silent	SNP	G	TCGA-EJ-5499-01A-01D-1576-08		155254246	35900030	9	2635											
ADAM29	11086	broad.mit.edu	37	chr4	175898106	175898106	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacttcccataagtgcccagAtgacttttatgtggaagatg	11	13	9	8	0	0	3	0	1	0	2	1	4	1	4	2	1	2	0	2	1	4	5			TCGA-EJ-5499-01A-01D-1576-08	TCGA-EJ-5499-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eabee59a-01ca-476c-970c-72f69b24f6f1	f1ea82ad-41dd-4c0e-9328-73dd0548d125	g.chr4:175898106A>G	ENST00000359240.3	+	5	2100	c.1430A>G	c.(1429-1431)gAt>gGt	p.D477G	ADAM29_ENST00000514159.1_Missense_Mutation_p.D477G|ADAM29_ENST00000445694.1_Missense_Mutation_p.D477G|ADAM29_ENST00000404450.4_Missense_Mutation_p.D477G|RP13-577H12.2_ENST00000507525.1_RNA	NM_001278125.1|NM_014269.4	NP_001265054.1|NP_055084.3	Q9UKF5	ADA29_HUMAN	ADAM metallopeptidase domain 29	477	Disintegrin. {ECO:0000255|PROSITE- ProRule:PRU00068}.				spermatogenesis (GO:0007283)	integral component of plasma membrane (GO:0005887)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.D477G(2)		NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)		AAGTGCCCAGATGACTTTTAT	0.448																																					Ovarian(140;1727 1835 21805 25838 41440)	ENST00000359240.3																			2	Substitution - Missense(2)	p.D477G(2)	prostate(2)	NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93						c.(1429-1431)gAt>gGt		ADAM metallopeptidase domain 29							106	101	103					4																	175898106		2203	4300	6503	SO:0001583	missense	11086				proteolysis|spermatogenesis	integral to plasma membrane	metalloendopeptidase activity|zinc ion binding	g.chr4:175898106A>G	AF171929	CCDS3823.1	4q34.1	2012-05-16	2005-08-18		ENSG00000168594	ENSG00000168594		"ADAM metallopeptidase domain containing"	207	protein-coding gene	gene with protein product	"cancer/testis antigen 73"	604778	"a disintegrin and metalloproteinase domain 29"			10644455	Standard	NM_014269		Approved	svph1, CT73	uc031shw.1	Q9UKF5	OTTHUMG00000160764	ENST00000359240.3:c.1430A>G	4.37:g.175898106A>G	ENSP00000352177:p.Asp477Gly					ADAM29_ENST00000445694.1_Missense_Mutation_p.D477G|ADAM29_ENST00000514159.1_Missense_Mutation_p.D477G|ADAM29_ENST00000404450.4_Missense_Mutation_p.D477G	p.D477G	NM_001278125.1|NM_014269.4	NP_001265054.1|NP_055084.3	Q9UKF5	ADA29_HUMAN		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)	5	2100	+		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)	477			Disintegrin.		Q4W5F3|Q9UHP1|Q9UKF3|Q9UKF4	Missense_Mutation	SNP	ENST00000359240.3	37	c.1430A>G	CCDS3823.1	.	.	.	.	.	.	.	.	.	.	A	10.57	1.387930	0.25031	.	.	ENSG00000168594	ENST00000359240;ENST00000445694;ENST00000404450;ENST00000514159	T;T;T;T	0.11495	2.77;2.77;2.77;2.77	3.69	2.47	0.30058	Blood coagulation inhibitor, Disintegrin (6);	1.067860	0.07519	U	0.910165	T	0.12689	0.0308	N	0.21373	0.66	0.09310	N	1	D	0.55172	0.97	P	0.54924	0.764	T	0.27502	-1.0072	9	.	.	.	.	4.3789	0.11284	0.5886:0.2094:0.0:0.202	.	477	Q9UKF5	ADA29_HUMAN	G	477	ENSP00000352177:D477G;ENSP00000414544:D477G;ENSP00000384229:D477G;ENSP00000423517:D477G	.	D	+	2	0	ADAM29	176134681	0.001000	0.12720	0.029000	0.17559	0.274000	0.26718	0.940000	0.28992	0.738000	0.32606	0.523000	0.50628	GAT		0.448	ADAM29-201	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding				40	159	0	0	0	1	0	40	159					G	175898106	A	G	175898106	3	3	49	1	0	0	0	0	1	0	0	0	247	333	12	4	1432	4	ADAM29	4	175898106	Missense_Mutation	SNP	A	TCGA-EJ-5499-01A-01D-1576-08	20643860	175898106	15256170	10	2636											
SLC12A7	10723	broad.mit.edu	37	chr5	1081839	1081839	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacaaacgcccccgcgtgcgCgtacgtactccacaggttct	8	7	9	17	6	1	0	0	0	1	0	2	0	2	0	3	1	4	3	3	1	3	3	rs190368642	byFrequency	TCGA-EJ-5499-01A-01D-1576-08	TCGA-EJ-5499-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eabee59a-01ca-476c-970c-72f69b24f6f1	f1ea82ad-41dd-4c0e-9328-73dd0548d125	g.chr5:1081839C>A	ENST00000264930.5	-	9	1193	c.1150G>T	c.(1150-1152)Gcg>Tcg	p.A384S		NM_006598.2	NP_006589.2	Q9Y666	S12A7_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 7	384					cell volume homeostasis (GO:0006884)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|potassium ion transport (GO:0006813)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	32	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09)		Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165)		Potassium Chloride(DB00761)	CCCGCGTGCGCGTACGTACTC	0.667																																						ENST00000264930.5																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	32						c.(1150-1152)Gcg>Tcg		solute carrier family 12 (potassium/chloride transporter), member 7	Potassium Chloride(DB00761)						67	65	65					5																	1081839		2201	4300	6501	SO:0001583	missense	10723				potassium ion transport|sodium ion transport	integral to plasma membrane	potassium:chloride symporter activity	g.chr5:1081839C>A	AF105365	CCDS34129.1	5p15	2013-07-18	2013-07-18		ENSG00000113504	ENSG00000113504		"Solute carriers"	10915	protein-coding gene	gene with protein product		604879				10347194	Standard	NM_006598		Approved	KCC4, DKFZP434F076	uc003jbu.3	Q9Y666	OTTHUMG00000161931	ENST00000264930.5:c.1150G>T	5.37:g.1081839C>A	ENSP00000264930:p.Ala384Ser						p.A384S	NM_006598.2	NP_006589.2	Q9Y666	S12A7_HUMAN	Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165)		9	1193	-	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09)		384					A6NDS8|Q4G0F3|Q96I81|Q9H7I3|Q9H7I7|Q9UFW2	Missense_Mutation	SNP	ENST00000264930.5	37	c.1150G>T	CCDS34129.1	.	.	.	.	.	.	.	.	.	.	C	12.63	1.996393	0.35226	.	.	ENSG00000113504	ENST00000264930	T	0.63096	-0.02	4.09	-4.63	0.03359	.	0.649647	0.15578	N	0.255071	T	0.28001	0.0690	N	0.04043	-0.29	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.08207	-1.0733	10	0.44086	T	0.13	.	2.3682	0.04324	0.5381:0.1808:0.1024:0.1786	.	384	Q9Y666	S12A7_HUMAN	S	384	ENSP00000264930:A384S	ENSP00000264930:A384S	A	-	1	0	SLC12A7	1134839	0.000000	0.05858	0.000000	0.03702	0.023000	0.10783	-0.706000	0.05047	-0.271000	0.09272	0.491000	0.48974	GCG		0.667	SLC12A7-001	KNOWN	non_canonical_TEC|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366446.2	NM_006598		3	99	1	0	1	1	1	3	99					A	1081839	C	A	1081839	3	1	49	1	0	0	0	0	1	0	0	0	14388	768	27	5	2165	5	SLC12A7	5	1081839	Missense_Mutation	SNP	C	TCGA-EJ-5499-01A-01D-1576-08		1081839	179833421	11	2637											
PLCXD3	345557	broad.mit.edu	37	chr5	41382213	41382213	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	actttaaactaacttcctggGcaaaaatcgctgggcacatt	13	11	7	10	1	0	0	0	0	0	0	2	0	1	0	1	2	2	3	1	2	5	5			TCGA-EJ-5499-01A-01D-1576-08	TCGA-EJ-5499-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eabee59a-01ca-476c-970c-72f69b24f6f1	f1ea82ad-41dd-4c0e-9328-73dd0548d125	g.chr5:41382213G>A	ENST00000377801.3	-	2	601	c.527C>T	c.(526-528)gCc>gTc	p.A176V	PLCXD3_ENST00000328457.3_Missense_Mutation_p.A176V			Q63HM9	PLCX3_HUMAN	phosphatidylinositol-specific phospholipase C, X domain containing 3	176	PI-PLC X-box. {ECO:0000255|PROSITE- ProRule:PRU00270}.				lipid catabolic process (GO:0016042)		phosphoric diester hydrolase activity (GO:0008081)|signal transducer activity (GO:0004871)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						AACTTCCTGGGCAAAAATCGC	0.448																																						ENST00000377801.3																			0				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						c.(526-528)gCc>gTc		phosphatidylinositol-specific phospholipase C, X domain containing 3							96	95	96					5																	41382213		2203	4300	6503	SO:0001583	missense	345557				intracellular signal transduction|lipid catabolic process		phospholipase C activity|signal transducer activity	g.chr5:41382213G>A		CCDS34150.1	5p13.1	2004-09-09			ENSG00000182836	ENSG00000182836			31822	protein-coding gene	gene with protein product							Standard	NM_001005473		Approved		uc003jmm.1	Q63HM9	OTTHUMG00000162076	ENST00000377801.3:c.527C>T	5.37:g.41382213G>A	ENSP00000367032:p.Ala176Val					PLCXD3_ENST00000328457.3_Missense_Mutation_p.A176V	p.A176V			Q63HM9	PLCX3_HUMAN			2	601	-			176			PI-PLC X-box.		A6NL04	Missense_Mutation	SNP	ENST00000377801.3	37	c.527C>T	CCDS34150.1	.	.	.	.	.	.	.	.	.	.	G	12.90	2.076016	0.36662	.	.	ENSG00000182836	ENST00000377801;ENST00000328457	T;T	0.63744	-0.06;-0.06	5.81	5.81	0.92471	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);Phospholipase C, phosphatidylinositol-specific , X domain (1);	0.046791	0.85682	N	0.000000	T	0.60353	0.2262	N	0.03903	-0.33	0.80722	D	1	D	0.69078	0.997	D	0.74348	0.983	T	0.64002	-0.6509	10	0.21540	T	0.41	-13.7964	20.0784	0.97758	0.0:0.0:1.0:0.0	.	176	Q63HM9	PLCX3_HUMAN	V	176	ENSP00000367032:A176V;ENSP00000333751:A176V	ENSP00000333751:A176V	A	-	2	0	PLCXD3	41417970	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.399000	0.73248	2.736000	0.93811	0.655000	0.94253	GCC		0.448	PLCXD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367109.1	XM_293875		6	364	0	0	0	1	0	6	364					A	41382213	G	A	41382213	3	1	49	1	0	0	0	0	1	0	0	0	12043	1203	42	3	446	3	PLCXD3	5	41382213	Missense_Mutation	SNP	G	TCGA-EJ-5499-01A-01D-1576-08	40300374	41382213	139533047	12	2638											
PCDHB10	56126	broad.mit.edu	37	chr5	140573541	140573541	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cccgccctgcacatcggcagCgtcagcgccacagacagaga	10	3	11	17	4	1	2	1	0	0	2	2	3	1	2	3	1	3	2	3	1	0	0	rs17844565	byFrequency	TCGA-EJ-5499-01A-01D-1576-08	TCGA-EJ-5499-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eabee59a-01ca-476c-970c-72f69b24f6f1	f1ea82ad-41dd-4c0e-9328-73dd0548d125	g.chr5:140573541C>T	ENST00000239446.4	+	1	1600	c.1416C>T	c.(1414-1416)agC>agT	p.S472S		NM_018930.3	NP_061753.1	Q9UN67	PCDBA_HUMAN	protocadherin beta 10	472	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.S472S(1)		breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(30)|ovary(4)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	76			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACATCGGCAGCGTCAGCGCCA	0.662													C|||	20	0.00399361	0.0144	0.0014	5008	,	,		16966	0		0	False		,,,				2504	0					ENST00000239446.4																			1	Substitution - coding silent(1)	p.S472S(1)	prostate(1)	breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(30)|ovary(4)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	76						c.(1414-1416)agC>agT				C		43,4361		0,43,2159	42	51	48		1416	1.4	0.9	5	dbSNP_123	48	2,8586		0,2,4292	no	coding-synonymous	PCDHB10	NM_018930.3		0,45,6451	TT,TC,CC		0.0233,0.9764,0.3464		472/801	140573541	45,12947	2202	4294	6496	SO:0001819	synonymous_variant	0				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140573541C>T	AF152489	CCDS4252.1	5q31.3	2010-06-15			ENSG00000120324	ENSG00000120324		"Cadherins / Protocadherins : Clustered"	8681	other	protocadherin		606336				10380929	Standard	NM_018930		Approved		uc003lix.3	Q9UN67	OTTHUMG00000129626	ENST00000239446.4:c.1416C>T	5.37:g.140573541C>T							p.S472S	NM_018930.3	NP_061753.1	Q9UN67	PCDBA_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1600	+			472			Cadherin 5.		Q96T99	Silent	SNP	ENST00000239446.4	37	c.1416C>T	CCDS4252.1																																																																																				0.662	PCDHB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251821.1	NM_018930		6	111	0	0	0	1	0	6	111					T	140573541	C	T	140573541	2	4	49	1	0	0	0	0	0	0	0	1	11535	767	27	1		1	PCDHB10	5	140573541	Silent	SNP	C	TCGA-EJ-5499-01A-01D-1576-08	99191328	140573541	40341719	13	2639											
PCDHGC5	56097	broad.mit.edu	37	chr5	140870417	140870417	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcagattgtggtgggggttcGagactccggctctcccccat	5	10	14	12	2	1	2	0	0	1	2	4	3	2	2	3	4	0	3	3	4	0	2	rs374508743		TCGA-EJ-5499-01A-01D-1576-08	TCGA-EJ-5499-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eabee59a-01ca-476c-970c-72f69b24f6f1	f1ea82ad-41dd-4c0e-9328-73dd0548d125	g.chr5:140870417G>A	ENST00000252087.1	+	1	1610	c.1610G>A	c.(1609-1611)cGa>cAa	p.R537Q	PCDHGA10_ENST00000398610.2_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGC4_ENST00000306593.1_Intron|PCDHGC3_ENST00000308177.3_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB7_ENST00000398594.2_Intron	NM_018929.2|NM_032403.2|NM_032407.1	NP_061752.1|NP_115779.1|NP_115783.1	Q9Y5F6	PCDGM_HUMAN	protocadherin gamma subfamily C, 5	537	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.R537P(2)|p.R537Q(2)		breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTGGGGGTTCGAGACTCCGGC	0.537																																						ENST00000252087.1																			4	Substitution - Missense(4)	p.R537P(2)|p.R537Q(2)	prostate(2)|lung(2)	breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35						c.(1609-1611)cGa>cAa				G	,,,,,,,,,,,,,,,,,,,,GLN/ARG,,,,GLN/ARG	0,4406		0,0,2203	70	70	70		,,,,,,,,,,,,,,,,,,,,1610,,,,1610	4.6	1	5		70	3,8597	3.0+/-9.4	0,3,4297	no	intron,intron,intron,intron,intron,intron,intron,intron,intron,intron,intron,intron,intron,intron,intron,intron,intron,intron,intron,intron,missense,intron,intron,intron,missense	PCDHGC3,PCDHGB4,PCDHGA8,PCDHGA12,PCDHGC5,PCDHGC4,PCDHGB7,PCDHGB6,PCDHGB5,PCDHGB3,PCDHGB2,PCDHGB1,PCDHGA11,PCDHGA10,PCDHGA9,PCDHGA7,PCDHGA6,PCDHGA5,PCDHGA4,PCDHGA3,PCDHGA2,PCDHGA1	NM_002588.2,NM_003735.2,NM_003736.2,NM_018912.2,NM_018913.2,NM_018914.2,NM_018915.2,NM_018916.3,NM_018917.2,NM_018918.2,NM_018919.2,NM_018920.2,NM_018921.2,NM_018922.2,NM_018923.2,NM_018924.2,NM_018925.2,NM_018926.2,NM_018927.3,NM_018928.2,NM_018929.2,NM_032088.1,NM_032092.1,NM_032403.1,NM_032407.1	,,,,,,,,,,,,,,,,,,,,43,,,,43	0,3,6500	AA,AG,GG		0.0349,0.0,0.0231	,,,,,,,,,,,,,,,,,,,,possibly-damaging,,,,possibly-damaging	,,,,,,,,,,,,,,,,,,,,537/945,,,,537/879	140870417	3,13003	2203	4300	6503	SO:0001583	missense	0				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140870417G>A	AF152526	CCDS4263.1, CCDS75350.1	5q31	2010-01-26			ENSG00000240764	ENSG00000240764		"Cadherins / Protocadherins : Clustered"	8718	other	protocadherin		606306				10380929	Standard	NM_018929		Approved	PCDH-GAMMA-C5	uc003lla.2	Q9Y5F6	OTTHUMG00000129624	ENST00000252087.1:c.1610G>A	5.37:g.140870417G>A	ENSP00000252087:p.Arg537Gln					PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGC3_ENST00000308177.3_Intron|PCDHGC4_ENST00000306593.1_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA4_ENST00000571252.1_Intron	p.R537Q	NM_018929.2|NM_032403.2|NM_032407.1	NP_061752.1|NP_115779.1|NP_115783.1	Q9Y5F6	PCDGM_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1610	+			537			Cadherin 5.		Q9Y5C2	Missense_Mutation	SNP	ENST00000252087.1	37	c.1610G>A	CCDS4263.1	.	.	.	.	.	.	.	.	.	.	G	9.682	1.149562	0.21288	0.0	3.49E-4	ENSG00000240764	ENST00000252087	T	0.52754	0.65	5.45	4.59	0.56863	Cadherin (5);Cadherin-like (1);	0.146167	0.31335	N	0.007824	T	0.44664	0.1304	L	0.33189	0.99	0.34071	D	0.658507	B;D	0.57571	0.321;0.98	B;P	0.55615	0.025;0.78	T	0.50898	-0.8773	10	0.13470	T	0.59	.	8.7999	0.34903	0.227:0.0:0.773:0.0	.	537;537	Q9Y5F6-2;Q9Y5F6	.;PCDGM_HUMAN	Q	537	ENSP00000252087:R537Q	ENSP00000252087:R537Q	R	+	2	0	PCDHGC5	140850601	0.002000	0.14202	1.000000	0.80357	0.988000	0.76386	0.494000	0.22467	1.543000	0.49345	0.655000	0.94253	CGA		0.537	PCDHGC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251819.1	NM_018929		37	109	0	0	0	1	0	37	109					A	140870417	G	A	140870417	3	1	49	1	0	0	0	0	1	0	0	0	11571	1058	37	2	1612	2	PCDHGC5	5	140870417	Missense_Mutation	SNP	G	TCGA-EJ-5499-01A-01D-1576-08	296876	140870417	40044843	14	2640											
CSF1R	1436	broad.mit.edu	37	chr5	149460527	149460527	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccacacatcgcaaggtcaccGttgctcctggcttcacgacc	8	8	8	17	3	2	0	2	0	0	0	4	1	3	0	4	2	1	4	4	2	1	2	rs139635308	byFrequency	TCGA-EJ-5499-01A-01D-1576-08	TCGA-EJ-5499-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eabee59a-01ca-476c-970c-72f69b24f6f1	f1ea82ad-41dd-4c0e-9328-73dd0548d125	g.chr5:149460527G>A	ENST00000286301.3	-	3	401	c.110C>T	c.(109-111)aCg>aTg	p.T37M	CSF1R_ENST00000543093.1_Missense_Mutation_p.T37M	NM_005211.3	NP_005202.2	P07333	CSF1R_HUMAN	colony stimulating factor 1 receptor	37	Ig-like C2-type 1.				cell proliferation (GO:0008283)|cell-cell junction maintenance (GO:0045217)|cellular response to cytokine stimulus (GO:0071345)|cellular response to macrophage colony-stimulating factor stimulus (GO:0036006)|cytokine-mediated signaling pathway (GO:0019221)|hemopoiesis (GO:0030097)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|macrophage differentiation (GO:0030225)|mammary gland duct morphogenesis (GO:0060603)|monocyte differentiation (GO:0030224)|multicellular organismal development (GO:0007275)|osteoclast differentiation (GO:0030316)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol metabolic process (GO:0046488)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell migration (GO:0030335)|positive regulation of cell motility (GO:2000147)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chemokine secretion (GO:0090197)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|protein autophosphorylation (GO:0046777)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of bone resorption (GO:0045124)|regulation of cell shape (GO:0008360)|ruffle organization (GO:0031529)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|cytokine binding (GO:0019955)|macrophage colony-stimulating factor receptor activity (GO:0005011)|protein homodimerization activity (GO:0042803)	p.T37M(3)		NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(38)|kidney(2)|large_intestine(6)|liver(3)|lung(23)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	93			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		Imatinib(DB00619)|Sunitinib(DB01268)	CAAGGTCACCGTTGCTCCTGG	0.597													G|||	2	0.000399361	0	0	5008	,	,		21098	0		0	False		,,,				2504	0.002					ENST00000286301.3																			3	Substitution - Missense(3)	p.T37M(3)	prostate(3)	NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(38)|kidney(2)|large_intestine(6)|liver(3)|lung(23)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	93						c.(109-111)aCg>aTg		colony stimulating factor 1 receptor	Imatinib(DB00619)|Sunitinib(DB01268)	G	MET/THR	2,4404	4.2+/-10.8	0,2,2201	110	77	88		110	-3.5	0	5	dbSNP_134	88	0,8600		0,0,4300	no	missense	CSF1R	NM_005211.3	81	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	benign	37/973	149460527	2,13004	2203	4300	6503	SO:0001583	missense	1436				cell proliferation|multicellular organismal development|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane|receptor complex	ATP binding|cytokine binding|macrophage colony-stimulating factor receptor activity|protein homodimerization activity	g.chr5:149460527G>A	U63963	CCDS4302.1	5q32	2013-01-11	2008-08-01		ENSG00000182578	ENSG00000182578		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	2433	protein-coding gene	gene with protein product		164770	"McDonough feline sarcoma viral (v-fms) oncogene homolog"	FMS		1611909	Standard	NM_005211		Approved	C-FMS, CSFR, CD115	uc003lrm.3	P07333	OTTHUMG00000130050	ENST00000286301.3:c.110C>T	5.37:g.149460527G>A	ENSP00000286301:p.Thr37Met					CSF1R_ENST00000543093.1_Missense_Mutation_p.T37M	p.T37M	NM_005211.3	NP_005202.2	P07333	CSF1R_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		3	401	-			37			Ig-like C2-type 1.		B5A955|D3DQG2|Q6LDW5|Q6LDY4|Q86VW7	Missense_Mutation	SNP	ENST00000286301.3	37	c.110C>T	CCDS4302.1	.	.	.	.	.	.	.	.	.	.	G	4.812	0.151006	0.09185	4.54E-4	0.0	ENSG00000182578	ENST00000286301;ENST00000543093	T;T	0.32272	1.46;1.46	5.76	-3.47	0.04753	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	1.076950	0.07181	N	0.853960	T	0.23054	0.0557	M	0.70595	2.14	0.09310	N	1	P;B;B	0.35107	0.484;0.081;0.184	B;B;B	0.26202	0.017;0.028;0.067	T	0.13926	-1.0491	10	0.46703	T	0.11	.	0.7538	0.00995	0.2617:0.1082:0.2982:0.3318	.	37;37;37	B4DG86;B5A955;P07333	.;.;CSF1R_HUMAN	M	37	ENSP00000286301:T37M;ENSP00000445282:T37M	ENSP00000286301:T37M	T	-	2	0	CSF1R	149440720	0.000000	0.05858	0.000000	0.03702	0.016000	0.09150	-0.302000	0.08221	-1.179000	0.02737	-0.726000	0.03593	ACG		0.597	CSF1R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252329.2	NM_005211		14	43	0	0	0	1	0	14	43					A	149460527	G	A	149460527	3	1	49	1	0	0	0	0	1	0	0	0	3932	1145	40	1	2888	1	CSF1R	5	149460527	Missense_Mutation	SNP	G	TCGA-EJ-5499-01A-01D-1576-08	8590110	149460527	31454733	15	2641											
FKBP5	2289	broad.mit.edu	37	chr6	35588018	35588018	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctctcctttcttcatggtaGccaccccaatgtcccatgcc	6	13	5	17	0	3	0	1	0	2	0	6	0	5	0	6	1	2	1	6	1	2	3			TCGA-EJ-5499-01A-01D-1576-08	TCGA-EJ-5499-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eabee59a-01ca-476c-970c-72f69b24f6f1	f1ea82ad-41dd-4c0e-9328-73dd0548d125	g.chr6:35588018G>A	ENST00000539068.1	-	4	486	c.284C>T	c.(283-285)gCt>gTt	p.A95V	FKBP5_ENST00000542713.1_Missense_Mutation_p.A95V|FKBP5_ENST00000536438.1_Missense_Mutation_p.A95V|FKBP5_ENST00000357266.4_Missense_Mutation_p.A95V|FKBP5_ENST00000540787.1_Intron	NM_001145776.1	NP_001139248.1	Q13451	FKBP5_HUMAN	FK506 binding protein 5	95	PPIase FKBP-type 1. {ECO:0000255|PROSITE- ProRule:PRU00277}.				chaperone-mediated protein folding (GO:0061077)|protein folding (GO:0006457)|protein peptidyl-prolyl isomerization (GO:0000413)	endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	FK506 binding (GO:0005528)|heat shock protein binding (GO:0031072)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)	p.A95V(1)		breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(3)|urinary_tract(2)	17						CTTCATGGTAGCCACCCCAAT	0.423																																						ENST00000542713.1																			1	Substitution - Missense(1)	p.A95V(1)	prostate(1)	breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(3)|urinary_tract(2)	17						c.(283-285)gCt>gTt		FK506 binding protein 5							149	123	132					6																	35588018		2203	4300	6503	SO:0001583	missense	2289				protein folding	cytoplasm|membrane|nucleus	FK506 binding|heat shock protein binding|peptidyl-prolyl cis-trans isomerase activity	g.chr6:35588018G>A	U42031	CCDS4808.1, CCDS54996.1	6p21.31	2013-01-10	2001-11-28		ENSG00000096060	ENSG00000096060		"Tetratricopeptide (TTC) repeat domain containing"	3721	protein-coding gene	gene with protein product		602623	"FK506-binding protein 5"			9001212	Standard	NM_004117		Approved	FKBP51, FKBP54, PPIase, P54, Ptg-10	uc003okx.2	Q13451	OTTHUMG00000014576	ENST00000539068.1:c.284C>T	6.37:g.35588018G>A	ENSP00000441205:p.Ala95Val					FKBP5_ENST00000357266.4_Missense_Mutation_p.A95V|FKBP5_ENST00000540787.1_Intron|FKBP5_ENST00000539068.1_Missense_Mutation_p.A95V|FKBP5_ENST00000536438.1_Missense_Mutation_p.A95V	p.A95V	NM_001145777.1	NP_001139249.1	Q13451	FKBP5_HUMAN			4	441	-			95			PPIase FKBP-type 1.		F5H7R1|Q59EB8|Q5TGM6	Missense_Mutation	SNP	ENST00000539068.1	37	c.284C>T	CCDS4808.1	.	.	.	.	.	.	.	.	.	.	G	18.90	3.722616	0.68959	.	.	ENSG00000096060	ENST00000536438;ENST00000357266;ENST00000539068;ENST00000337746;ENST00000543400;ENST00000542713;ENST00000373875	D;D;D;D	0.85484	-1.99;-1.99;-1.99;-1.99	5.75	4.85	0.62838	Peptidyl-prolyl cis-trans isomerase, FKBP-type, domain (2);	0.463174	0.23405	N	0.048537	T	0.76212	0.3956	L	0.52759	1.655	0.36092	D	0.84352	B;B	0.21225	0.053;0.04	B;B	0.17979	0.013;0.02	T	0.76887	-0.2793	10	0.72032	D	0.01	-2.5356	16.2259	0.82288	0.0:0.0:0.8668:0.1332	.	95;95	F5H7R1;Q13451	.;FKBP5_HUMAN	V	95;95;95;95;58;95;93	ENSP00000444810:A95V;ENSP00000349811:A95V;ENSP00000441205:A95V;ENSP00000442340:A95V	ENSP00000338160:A95V	A	-	2	0	FKBP5	35695996	1.000000	0.71417	0.994000	0.49952	0.977000	0.68977	4.146000	0.58072	2.708000	0.92522	0.650000	0.86243	GCT		0.423	FKBP5-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040309.2			45	137	0	0	0	1	0	45	137					A	35588018	G	A	35588018	3	1	49	1	0	0	0	0	1	0	0	0	5911	971	34	3	1179	3	FKBP5	6	35588018	Missense_Mutation	SNP	G	TCGA-EJ-5499-01A-01D-1576-08		35588018	135527049	16	2642											
DNAH8	1769	broad.mit.edu	37	chr6	38816530	38816530	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tacagaacctttgggtttatCttgaagccgtctttgtaggt	8	16	10	7	1	2	2	0	1	2	1	2	2	2	2	2	2	3	2	2	2	5	7			TCGA-EJ-5499-01A-01D-1576-08	TCGA-EJ-5499-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eabee59a-01ca-476c-970c-72f69b24f6f1	f1ea82ad-41dd-4c0e-9328-73dd0548d125	g.chr6:38816530C>T	ENST00000359357.3	+	35	4755	c.4501C>T	c.(4501-4503)Ctt>Ttt	p.L1501F	DNAH8_ENST00000449981.2_Missense_Mutation_p.L1718F|DNAH8_ENST00000441566.1_Missense_Mutation_p.L1501F			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	1501					cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.L1501F(2)		NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						TTGGGTTTATCTTGAAGCCGT	0.358																																						ENST00000359357.3																			2	Substitution - Missense(2)	p.L1501F(2)	prostate(2)	NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						c.(4501-4503)Ctt>Ttt		dynein, axonemal, heavy chain 8							91	98	96					6																	38816530		2203	4300	6503	SO:0001583	missense	1769							g.chr6:38816530C>T	Z83806	CCDS75447.1	6p21.2	2012-04-19	2006-09-04		ENSG00000124721	ENSG00000124721		"Axonemal dyneins"	2952	protein-coding gene	gene with protein product		603337	"dynein, axonemal, heavy polypeptide 8"			9373155	Standard	NM_001206927		Approved	hdhc9	uc021yzh.1	Q96JB1	OTTHUMG00000016253	ENST00000359357.3:c.4501C>T	6.37:g.38816530C>T	ENSP00000352312:p.Leu1501Phe					DNAH8_ENST00000449981.2_Missense_Mutation_p.L1718F|DNAH8_ENST00000441566.1_Missense_Mutation_p.L1501F	p.L1501F							35	4755	+								O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Missense_Mutation	SNP	ENST00000359357.3	37	c.4501C>T		.	.	.	.	.	.	.	.	.	.	C	21.9	4.220472	0.79464	.	.	ENSG00000124721	ENST00000449981;ENST00000327475;ENST00000359357;ENST00000441566	T;T;T	0.81330	-1.48;-1.48;-1.48	5.78	5.78	0.91487	Dynein heavy chain, domain-2 (1);	0.000000	0.85682	D	0.000000	D	0.93223	0.7841	H	0.98996	4.395	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	D	0.94955	0.8103	10	0.87932	D	0	.	13.235	0.59965	0.0:0.9278:0.0:0.0722	.	1501	Q96JB1	DYH8_HUMAN	F	1706;1706;1501;1501	ENSP00000333363:L1706F;ENSP00000352312:L1501F;ENSP00000402294:L1501F	ENSP00000333363:L1706F	L	+	1	0	DNAH8	38924508	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.994000	0.40757	2.749000	0.94314	0.655000	0.94253	CTT		0.358	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000043574.1	NM_001206927		16	177	0	0	0	1	0	16	177					T	38816530	C	T	38816530	3	4	49	1	0	0	0	0	1	0	0	0	4607	913	32	3	4631	3	DNAH8	6	38816530	Missense_Mutation	SNP	C	TCGA-EJ-5499-01A-01D-1576-08	3228512	38816530	132298537	17	2643											
ROS1	6098	broad.mit.edu	37	chr6	117645561	117645561	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtaagtatgaaacttgtttCtggtatccaaaaatcatcta	15	14	6	6	0	3	1	1	1	2	0	4	1	4	1	1	1	1	4	1	1	7	6			TCGA-EJ-5499-01A-01D-1576-08	TCGA-EJ-5499-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eabee59a-01ca-476c-970c-72f69b24f6f1	f1ea82ad-41dd-4c0e-9328-73dd0548d125	g.chr6:117645561C>A	ENST00000368508.3	-	34	5773	c.5575G>T	c.(5575-5577)Gaa>Taa	p.E1859*	ROS1_ENST00000368507.3_Nonsense_Mutation_p.E1853*|GOPC_ENST00000467125.1_Intron	NM_002944.2	NP_002935.2	P08922	ROS1_HUMAN	ROS proto-oncogene 1 , receptor tyrosine kinase	1859					cell differentiation (GO:0030154)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|columnar/cuboidal epithelial cell development (GO:0002066)|negative regulation of gene expression (GO:0010629)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein phosphorylation (GO:0006468)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of phosphate transport (GO:0010966)|regulation of TOR signaling (GO:0032006)|spermatogenesis (GO:0007283)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		AAACTTGTTTCTGGTATCCAA	0.294			T	"GOPC, SDC4, SLC34A2, EZR, LRIG3"	"glioblastoma, NSCLC"																																	ENST00000368508.3				Dom	yes		6	6q22	6098	T	v-ros UR2 sarcoma virus oncogene homolog 1 (avian)			"O, E"	"GOPC, SDC4, SLC34A2, EZR, LRIG3"		"glioblastoma, NSCLC"	TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	0				NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162						c.(5575-5577)Gaa>Taa		c-ros oncogene 1 , receptor tyrosine kinase							38	40	39					6																	117645561		2201	4284	6485	SO:0001587	stop_gained	6098				transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr6:117645561C>A	M13599	CCDS5116.1	6q21-q22	2014-06-26	2014-06-26		ENSG00000047936	ENSG00000047936		"Fibronectin type III domain containing"	10261	protein-coding gene	gene with protein product		165020	"v-ros avian UR2 sarcoma virus oncogene homolog 1", "v-ros UR2 sarcoma virus oncogene homolog 1 (avian)", "c-ros oncogene 1 , receptor tyrosine kinase"			1611909	Standard	NM_002944		Approved	MCF3, ROS, c-ros-1	uc003pxp.1	P08922	OTTHUMG00000016188	ENST00000368508.3:c.5575G>T	6.37:g.117645561C>A	ENSP00000357494:p.Glu1859*					GOPC_ENST00000467125.1_Intron|ROS1_ENST00000368507.3_Nonsense_Mutation_p.E1853*	p.E1859*	NM_002944.2	NP_002935.2	P08922	ROS_HUMAN		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)	34	5773	-		all_cancers(87;0.00846)|all_epithelial(87;0.0242)	1859					Q15368|Q5TDB5	Nonsense_Mutation	SNP	ENST00000368508.3	37	c.5575G>T	CCDS5116.1	.	.	.	.	.	.	.	.	.	.	C	47	13.371248	0.99738	.	.	ENSG00000047936	ENST00000368508;ENST00000368507	.	.	.	5.41	5.41	0.78517	.	0.204689	0.34002	N	0.004348	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.08599	T	0.76	.	15.038	0.71764	0.0:1.0:0.0:0.0	.	.	.	.	X	1859;1853	.	ENSP00000357493:E1853X	E	-	1	0	ROS1	117752254	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.981000	0.40628	2.699000	0.92147	0.650000	0.86243	GAA		0.294	ROS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043464.1			4	108	1	0	1	1	1	4	108					A	117645561	C	A	117645561	4	1	49	1	0	0	0	0	0	1	0	0	13531	922	32	5	1508	5	ROS1	6	117645561	Nonsense_Mutation	SNP	C	TCGA-EJ-5499-01A-01D-1576-08	78829031	117645561	53469506	18	2644											
AKAP7	9465	broad.mit.edu	37	chr6	131490307	131490307	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atagaagaactcctccagggAaaacatttgactttgccctt	13	11	7	10	0	0	3	0	1	0	2	2	4	2	4	3	1	3	0	3	1	5	4			TCGA-EJ-5499-01A-01D-1576-08	TCGA-EJ-5499-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eabee59a-01ca-476c-970c-72f69b24f6f1	f1ea82ad-41dd-4c0e-9328-73dd0548d125	g.chr6:131490307A>G	ENST00000431975.2	+	5	581	c.483A>G	c.(481-483)ggA>ggG	p.G161G	AKAP7_ENST00000366358.2_Intron|AKAP7_ENST00000368123.4_Silent_p.G139G|AKAP7_ENST00000541650.1_Silent_p.G160G	NM_016377.3	NP_057461.2	Q9P0M2	AKA7G_HUMAN	A kinase (PRKA) anchor protein 7	161						cytosol (GO:0005829)|nucleus (GO:0005634)	catalytic activity (GO:0003824)|nucleotide binding (GO:0000166)|protein kinase A binding (GO:0051018)	p.G139G(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)|stomach(1)	13	Breast(56;0.152)			GBM - Glioblastoma multiforme(226;0.0184)|OV - Ovarian serous cystadenocarcinoma(155;0.0345)		TCCTCCAGGGAAAACATTTGA	0.353																																						ENST00000431975.2																			1	Substitution - coding silent(1)	p.G139G(1)	prostate(1)	endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)|stomach(1)	13						c.(481-483)ggA>ggG		A kinase (PRKA) anchor protein 7							115	119	118					6																	131490307		2203	4300	6503	SO:0001819	synonymous_variant	9465				intracellular signal transduction|ion transport	apical plasma membrane|intracellular|lateral plasma membrane	protein kinase A binding	g.chr6:131490307A>G	AF047715	CCDS5142.1, CCDS5143.1, CCDS5144.1, CCDS5142.2	6q23.2	2012-10-24			ENSG00000118507	ENSG00000118507		"A-kinase anchor proteins"	377	protein-coding gene	gene with protein product		604693				9545239	Standard	NM_016377		Approved	AKAP18, AKAP15	uc003qck.4	O43687	OTTHUMG00000015563	ENST00000431975.2:c.483A>G	6.37:g.131490307A>G						AKAP7_ENST00000368123.4_Silent_p.G139G|AKAP7_ENST00000541650.1_Silent_p.G160G|AKAP7_ENST00000366358.2_Intron	p.G161G	NM_016377.3	NP_057461.2	O43687	AKA7A_HUMAN		GBM - Glioblastoma multiforme(226;0.0184)|OV - Ovarian serous cystadenocarcinoma(155;0.0345)	5	581	+	Breast(56;0.152)		0					B4DUC3|Q9HCZ8	Silent	SNP	ENST00000431975.2	37	c.483A>G	CCDS5142.2																																																																																				0.353	AKAP7-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042209.2	NM_004842		61	211	0	0	0	1	0	61	211					G	131490307	A	G	131490307	2	3	49	1	0	0	0	0	0	0	0	1	456	233	9	4		4	AKAP7	6	131490307	Silent	SNP	A	TCGA-EJ-5499-01A-01D-1576-08	13844746	131490307	39624760	19	2645											
FBXO5	26271	broad.mit.edu	37	chr6	153292428	153292428	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tacagagacacttcgtacaaTaatcaaatccacagccttct	15	10	4	12	1	2	1	1	0	1	1	4	2	3	1	2	0	3	1	2	0	5	5			TCGA-EJ-5499-01A-01D-1576-08	TCGA-EJ-5499-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eabee59a-01ca-476c-970c-72f69b24f6f1	f1ea82ad-41dd-4c0e-9328-73dd0548d125	g.chr6:153292428T>C	ENST00000229758.3	-	5	1272	c.1214A>G	c.(1213-1215)tAt>tGt	p.Y405C	FBXO5_ENST00000477822.1_5'UTR|FBXO5_ENST00000367241.3_Missense_Mutation_p.Y359C	NM_012177.3	NP_036309.1	Q9UKT4	FBX5_HUMAN	F-box protein 5	405					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|G1/S transition of mitotic cell cycle (GO:0000082)|inhibition of mitotic anaphase-promoting complex activity (GO:0060565)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|microtubule polymerization (GO:0046785)|mitotic cell cycle (GO:0000278)|negative regulation of meiosis (GO:0045835)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|oocyte maturation (GO:0001556)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|regulation of mitotic cell cycle (GO:0007346)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|spindle assembly involved in female meiosis I (GO:0007057)|vesicle organization (GO:0016050)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)	p.Y405C(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|prostate(2)|upper_aerodigestive_tract(1)	15		Ovarian(120;0.125)		OV - Ovarian serous cystadenocarcinoma(155;4.38e-10)|BRCA - Breast invasive adenocarcinoma(81;0.0893)		CTTCGTACAATAATCAAATCC	0.418																																					NSCLC(121;372 1757 17721 17977 29669)	ENST00000367241.3																			1	Substitution - Missense(1)	p.Y405C(1)	prostate(1)	breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|prostate(2)|upper_aerodigestive_tract(1)	15						c.(1075-1077)tAt>tGt		F-box protein 5							114	106	109					6																	153292428		2203	4300	6503	SO:0001583	missense	26271				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle	cytosol|nucleoplasm|spindle	metal ion binding|protein binding	g.chr6:153292428T>C	AF129535	CCDS5242.1, CCDS47501.1	6q25-q26	2008-02-05	2004-06-15		ENSG00000112029	ENSG00000112029		"F-boxes /  "other""	13584	protein-coding gene	gene with protein product		606013	"F-box only protein 5"			10531035, 10531037	Standard	NM_012177		Approved	FBX5, Fbxo31, EMI1	uc003qpg.3	Q9UKT4	OTTHUMG00000015854	ENST00000229758.3:c.1214A>G	6.37:g.153292428T>C	ENSP00000229758:p.Tyr405Cys					FBXO5_ENST00000477822.1_5'UTR|FBXO5_ENST00000229758.3_Missense_Mutation_p.Y405C	p.Y359C	NM_001142522.1	NP_001135994.1	Q9UKT4	FBX5_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;4.38e-10)|BRCA - Breast invasive adenocarcinoma(81;0.0893)	5	1456	-		Ovarian(120;0.125)	405					B3KNX5|Q5TF47|Q8WV29|Q9UGC8	Missense_Mutation	SNP	ENST00000229758.3	37	c.1076A>G	CCDS5242.1	.	.	.	.	.	.	.	.	.	.	T	20.3	3.958698	0.74016	.	.	ENSG00000112029	ENST00000229758;ENST00000367241	T;T	0.63913	-0.07;-0.07	5.51	4.3	0.51218	.	0.055801	0.64402	D	0.000001	T	0.59569	0.2203	L	0.60455	1.87	0.37462	D	0.915278	D	0.71674	0.998	P	0.57324	0.818	T	0.66988	-0.5784	10	0.87932	D	0	-20.9069	8.2867	0.31932	0.4082:0.0:0.0:0.5918	.	405	Q9UKT4	FBX5_HUMAN	C	405;359	ENSP00000229758:Y405C;ENSP00000356210:Y359C	ENSP00000229758:Y405C	Y	-	2	0	FBXO5	153334121	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	4.504000	0.60414	2.098000	0.63641	0.533000	0.62120	TAT		0.418	FBXO5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042757.1			18	148	0	0	0	1	0	18	148					C	153292428	T	C	153292428	3	2	49	1	0	0	0	0	1	0	0	0	5758	1406	49	4	133	4	FBXO5	6	153292428	Missense_Mutation	SNP	T	TCGA-EJ-5499-01A-01D-1576-08	21802121	153292428	17822639	20	2646											
ADAM2	2515	broad.mit.edu	37	chr8	39645632	39645632	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaatgccacatcatgaggacGtaaaacaagataagatgttt	18	9	8	6	1	1	3	1	1	0	2	1	4	1	4	1	1	2	2	1	1	5	3	rs372523098		TCGA-EJ-5499-01A-01D-1576-08	TCGA-EJ-5499-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eabee59a-01ca-476c-970c-72f69b24f6f1	f1ea82ad-41dd-4c0e-9328-73dd0548d125	g.chr8:39645632G>A	ENST00000265708.4	-	9	884	c.781C>T	c.(781-783)Cgt>Tgt	p.R261C	ADAM2_ENST00000347580.4_Missense_Mutation_p.R242C|ADAM2_ENST00000521880.1_Missense_Mutation_p.R261C|ADAM2_ENST00000379853.2_Intron	NM_001464.3	NP_001455.3	Q99965	ADAM2_HUMAN	ADAM metallopeptidase domain 2	261	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				adult behavior (GO:0030534)|binding of sperm to zona pellucida (GO:0007339)|cell adhesion (GO:0007155)|fusion of sperm to egg plasma membrane (GO:0007342)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)|visual learning (GO:0008542)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(29)|ovary(3)|prostate(1)|skin(5)|urinary_tract(1)	53		all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246)	LUSC - Lung squamous cell carcinoma(45;0.000149)	READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162)		TCATGAGGACGTAAAACAAGA	0.303																																						ENST00000265708.4																			0				haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(29)|ovary(3)|prostate(1)|skin(5)|urinary_tract(1)	53						c.(781-783)Cgt>Tgt		ADAM metallopeptidase domain 2		G	CYS/ARG	3,4401	6.2+/-15.9	0,3,2199	94	91	92		781	2.6	1	8		92	1,8579	1.2+/-3.3	0,1,4289	no	missense	ADAM2	NM_001464.3	180	0,4,6488	AA,AG,GG		0.0117,0.0681,0.0308	probably-damaging	261/736	39645632	4,12980	2202	4290	6492	SO:0001583	missense	2515				cell adhesion|fusion of sperm to egg plasma membrane|proteolysis	integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding	g.chr8:39645632G>A	U52370	CCDS34884.1, CCDS64882.1, CCDS64883.1	8p11.2	2009-03-25	2008-07-31		ENSG00000104755	ENSG00000104755		"ADAM metallopeptidase domain containing"	198	protein-coding gene	gene with protein product	"cancer/testis antigen 15"	601533	"fertilin beta"	FTNB		8702389, 9070941	Standard	NM_001278113		Approved	PH-30b, PH30, CT15	uc003xnj.4	Q99965	OTTHUMG00000164041	ENST00000265708.4:c.781C>T	8.37:g.39645632G>A	ENSP00000265708:p.Arg261Cys					ADAM2_ENST00000521880.1_Missense_Mutation_p.R261C|ADAM2_ENST00000379853.2_Intron|ADAM2_ENST00000347580.4_Missense_Mutation_p.R242C	p.R261C	NM_001464.3	NP_001455.3	Q99965	ADAM2_HUMAN	LUSC - Lung squamous cell carcinoma(45;0.000149)	READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162)	9	884	-		all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246)	261			Peptidase M12B.		P78326|Q9UQQ8	Missense_Mutation	SNP	ENST00000265708.4	37	c.781C>T	CCDS34884.1	.	.	.	.	.	.	.	.	.	.	G	15.91	2.971648	0.53614	6.81E-4	1.17E-4	ENSG00000104755	ENST00000347580;ENST00000265708;ENST00000521880	T;T;T	0.64803	-0.12;-0.12;-0.12	4.57	2.63	0.31362	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	.	.	.	.	T	0.80025	0.4548	M	0.92555	3.32	0.43164	D	0.994956	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.998;0.999	T	0.80091	-0.1527	8	.	.	.	.	6.2234	0.20693	0.1038:0.0:0.7141:0.1821	.	261;242;261	B4DWY7;Q99965-2;Q99965	.;.;ADAM2_HUMAN	C	242;261;261	ENSP00000343854:R242C;ENSP00000265708:R261C;ENSP00000429352:R261C	.	R	-	1	0	ADAM2	39764789	0.495000	0.26051	0.994000	0.49952	0.949000	0.60115	1.616000	0.36933	1.041000	0.40125	0.460000	0.39030	CGT		0.303	ADAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376926.1	NM_001464		4	159	0	0	0	1	0	4	159					A	39645632	G	A	39645632	3	1	49	1	0	0	0	0	1	0	0	0	241	1145	40	1	1474	1	ADAM2	8	39645632	Missense_Mutation	SNP	G	TCGA-EJ-5499-01A-01D-1576-08		39645632	106718390	21	2647											
ZFPM2	23414	broad.mit.edu	37	chr8	106811063	106811063	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aagagaagctgctccggtgtCagaggaaaatgaagacagtg	15	6	14	6	1	1	4	1	1	0	3	2	6	2	5	1	2	2	2	1	2	5	0			TCGA-EJ-5499-01A-01D-1576-08	TCGA-EJ-5499-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eabee59a-01ca-476c-970c-72f69b24f6f1	f1ea82ad-41dd-4c0e-9328-73dd0548d125	g.chr8:106811063C>T	ENST00000407775.2	+	7	1101	c.851C>T	c.(850-852)tCa>tTa	p.S284L	RP11-152P17.2_ENST00000521622.1_RNA|ZFPM2_ENST00000520492.1_Missense_Mutation_p.S152L|RP11-152P17.2_ENST00000518932.1_RNA|RP11-152P17.2_ENST00000509144.2_RNA|RP11-152P17.2_ENST00000520594.1_RNA|ZFPM2_ENST00000522296.1_3'UTR|ZFPM2_ENST00000517361.1_Missense_Mutation_p.S152L|RP11-152P17.2_ENST00000524045.2_RNA|ZFPM2_ENST00000378472.4_Missense_Mutation_p.S15L|RP11-152P17.2_ENST00000520433.1_RNA	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	zinc finger protein, FOG family member 2	284					blood coagulation (GO:0007596)|embryonic organ development (GO:0048568)|gonadal mesoderm development (GO:0007506)|in utero embryonic development (GO:0001701)|lung development (GO:0030324)|negative regulation of cell death (GO:0060548)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of female gonad development (GO:2000195)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract septum morphogenesis (GO:0003148)|positive regulation of male gonad development (GO:2000020)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|right ventricular cardiac muscle tissue morphogenesis (GO:0003221)|vasculogenesis (GO:0001570)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|nucleic acid binding transcription factor activity (GO:0001071)|RNA polymerase II transcription coactivator activity (GO:0001105)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.S284L(1)		NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			GCTCCGGTGTCAGAGGAAAAT	0.527																																						ENST00000407775.2																			1	Substitution - Missense(1)	p.S284L(1)	prostate(1)	NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99						c.(850-852)tCa>tTa		zinc finger protein, FOG family member 2							115	119	118					8																	106811063		2095	4238	6333	SO:0001583	missense	23414				blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding	g.chr8:106811063C>T	AF119334	CCDS47908.1	8q23	2013-01-10	2012-11-27		ENSG00000169946	ENSG00000169946		"Zinc fingers, C2H2-type", "Zinc fingers, C2HC-type containing"	16700	protein-coding gene	gene with protein product		603693	"zinc finger protein, multitype 2"			9927675, 10438528	Standard	NM_012082		Approved	FOG2, hFOG-2, ZNF89B, ZC2HC11B	uc003ymd.3	Q8WW38	OTTHUMG00000164818	ENST00000407775.2:c.851C>T	8.37:g.106811063C>T	ENSP00000384179:p.Ser284Leu					ZFPM2_ENST00000517361.1_Missense_Mutation_p.S152L|RP11-152P17.2_ENST00000518932.1_RNA|ZFPM2_ENST00000378472.4_Missense_Mutation_p.S15L|RP11-152P17.2_ENST00000520433.1_RNA|RP11-152P17.2_ENST00000520594.1_RNA|RP11-152P17.2_ENST00000521622.1_RNA|RP11-152P17.2_ENST00000509144.2_RNA|RP11-152P17.2_ENST00000524045.2_RNA|ZFPM2_ENST00000520492.1_Missense_Mutation_p.S152L|ZFPM2_ENST00000522296.1_3'UTR	p.S284L	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)		7	1101	+			284					Q32MA6|Q9NPL7|Q9NPS4|Q9UNI5	Missense_Mutation	SNP	ENST00000407775.2	37	c.851C>T	CCDS47908.1	.	.	.	.	.	.	.	.	.	.	C	18.19	3.569917	0.65765	.	.	ENSG00000169946	ENST00000407775;ENST00000520492;ENST00000517361;ENST00000378472	T;T;T;T	0.21543	2.0;2.51;2.51;3.79	6.06	6.06	0.98353	.	0.381500	0.28724	N	0.014350	T	0.25419	0.0618	L	0.47716	1.5	0.38393	D	0.945453	B	0.20887	0.049	B	0.19666	0.026	T	0.02852	-1.1102	10	0.44086	T	0.13	.	20.6397	0.99537	0.0:1.0:0.0:0.0	.	284	Q8WW38	FOG2_HUMAN	L	284;152;152;15	ENSP00000384179:S284L;ENSP00000430757:S152L;ENSP00000428720:S152L;ENSP00000367733:S15L	ENSP00000367733:S15L	S	+	2	0	ZFPM2	106880239	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	4.507000	0.60434	2.880000	0.98712	0.650000	0.86243	TCA		0.527	ZFPM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380614.1			47	133	0	0	0	1	0	47	133					T	106811063	C	T	106811063	3	4	49	1	0	0	0	0	1	0	0	0	17655	838	29	3	877	3	ZFPM2	8	106811063	Missense_Mutation	SNP	C	TCGA-EJ-5499-01A-01D-1576-08	67165431	106811063	39552959	22	2648											
PTPRD	5789	broad.mit.edu	37	chr9	8485768	8485768	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	cagacaaatcctaccttgatCcacaggcagtgtcctgaact	12	9	7	13	0	0	3	0	2	0	1	3	3	3	3	4	1	2	1	4	1	3	2			TCGA-EJ-5499-01A-01D-1576-08	TCGA-EJ-5499-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eabee59a-01ca-476c-970c-72f69b24f6f1	f1ea82ad-41dd-4c0e-9328-73dd0548d125	g.chr9:8485768C>G	ENST00000381196.4	-	25	3592	c.3049G>C	c.(3049-3051)Gat>Cat	p.D1017H	PTPRD_ENST00000537002.1_Intron|PTPRD_ENST00000360074.4_Missense_Mutation_p.D1004H|PTPRD_ENST00000358503.5_Missense_Mutation_p.D995H|PTPRD_ENST00000397611.3_Intron|PTPRD_ENST00000355233.5_Intron|PTPRD_ENST00000486161.1_Intron|PTPRD_ENST00000471274.1_5'UTR|PTPRD_ENST00000397617.3_Intron|PTPRD_ENST00000540109.1_Missense_Mutation_p.D1017H|PTPRD_ENST00000356435.5_Missense_Mutation_p.D1017H|PTPRD_ENST00000397606.3_Intron	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	1017					heterophilic cell-cell adhesion (GO:0007157)|neuron differentiation (GO:0030182)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|positive regulation of dendrite morphogenesis (GO:0050775)|presynaptic membrane assembly (GO:0097105)|protein dephosphorylation (GO:0006470)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	cell adhesion molecule binding (GO:0050839)|receptor binding (GO:0005102)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.D1017H(1)		NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		CTACCTTGATCCACAGGCAGT	0.448										TSP Lung(15;0.13)																												ENST00000381196.4																			1	Substitution - Missense(1)	p.D1017H(1)	prostate(1)	NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168						c.(3049-3051)Gat>Cat		protein tyrosine phosphatase, receptor type, D							63	61	62					9																	8485768		2203	4300	6503	SO:0001583	missense	5789				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr9:8485768C>G	X54133	CCDS6472.1, CCDS43786.1, CCDS6472.2, CCDS55288.1, CCDS55289.1, CCDS55290.1, CCDS75813.1	9p24.1-p23	2013-02-11			ENSG00000153707	ENSG00000153707		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	9668	protein-coding gene	gene with protein product		601598				7896816, 8355697	Standard	NM_002839		Approved	PTPD, HPTP	uc003zkk.3	P23468	OTTHUMG00000021005	ENST00000381196.4:c.3049G>C	9.37:g.8485768C>G	ENSP00000370593:p.Asp1017His	TSP Lung(15;0.13)				PTPRD_ENST00000540109.1_Missense_Mutation_p.D1017H|PTPRD_ENST00000537002.1_Intron|PTPRD_ENST00000358503.5_Missense_Mutation_p.D995H|PTPRD_ENST00000486161.1_Intron|PTPRD_ENST00000356435.5_Missense_Mutation_p.D1017H|PTPRD_ENST00000355233.5_Intron|PTPRD_ENST00000397606.3_Intron|PTPRD_ENST00000471274.1_5'UTR|PTPRD_ENST00000397611.3_Intron|PTPRD_ENST00000397617.3_Intron|PTPRD_ENST00000360074.4_Missense_Mutation_p.D1004H	p.D1017H	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)	25	3592	-		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)	1017			Fibronectin type-III 8.		B1ALA0|F5GWT7|Q3KPJ0|Q3KPJ1|Q3KPJ2	Missense_Mutation	SNP	ENST00000381196.4	37	c.3049G>C	CCDS43786.1	.	.	.	.	.	.	.	.	.	.	C	17.23	3.337918	0.60963	.	.	ENSG00000153707	ENST00000381196;ENST00000356435;ENST00000360074;ENST00000358503;ENST00000540109	T;T;T;T;T	0.54866	0.55;0.55;0.59;0.65;0.55	5.54	4.64	0.57946	Fibronectin, type III (1);	0.093792	0.64402	D	0.000001	T	0.59824	0.2222	L	0.43923	1.385	0.80722	D	1	P;D;P	0.60575	0.941;0.988;0.903	P;P;P	0.58577	0.831;0.841;0.682	T	0.58595	-0.7609	9	.	.	.	.	14.7181	0.69286	0.0:0.9298:0.0:0.0702	.	1004;1017;1017	G3XAE2;Q2HXI4;P23468	.;.;PTPRD_HUMAN	H	1017;1017;1004;995;1017	ENSP00000370593:D1017H;ENSP00000348812:D1017H;ENSP00000353187:D1004H;ENSP00000351293:D995H;ENSP00000438164:D1017H	.	D	-	1	0	PTPRD	8475768	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.989000	0.56958	1.477000	0.48234	0.655000	0.94253	GAT		0.448	PTPRD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055395.3			17	44	0	0	0	1	0	17	44					G	8485768	C	G	8485768	3	3	49	1	0	0	0	0	1	0	0	0	12799	855	30	5	2833	5	PTPRD	9	8485768	Missense_Mutation	SNP	C	TCGA-EJ-5499-01A-01D-1576-08		8485768	132727663	23	2649											
FRMPD2	143162	broad.mit.edu	37	chr10	49457141	49457141	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaaggagcagcctctatatGagaaacacggccttggaaag	15	6	12	8	1	1	1	0	1	1	1	1	5	1	3	2	3	3	1	2	3	5	3			TCGA-EJ-5499-01A-01D-1576-08	TCGA-EJ-5499-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eabee59a-01ca-476c-970c-72f69b24f6f1	f1ea82ad-41dd-4c0e-9328-73dd0548d125	g.chr10:49457141G>T	ENST00000374201.3	-	3	534	c.232C>A	c.(232-234)Cat>Aat	p.H78N	FRMPD2_ENST00000305531.3_Missense_Mutation_p.H76N|FRMPD2_ENST00000407470.4_Missense_Mutation_p.H69N	NM_001018071.3|NM_001042512.2	NP_001018081|NP_001035977.2	Q68DX3	FRPD2_HUMAN	FERM and PDZ domain containing 2	78	KIND. {ECO:0000255|PROSITE- ProRule:PRU00709}.				tight junction assembly (GO:0070830)	basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|tight junction (GO:0005923)	1-phosphatidylinositol binding (GO:0005545)	p.H78N(1)		NS(2)|autonomic_ganglia(2)|breast(5)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(15)|lung(24)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	66				Kidney(211;0.201)		GCCTCTATATGAGAAACACGG	0.532																																						ENST00000374201.3																			1	Substitution - Missense(1)	p.H78N(1)	prostate(1)	NS(2)|autonomic_ganglia(2)|breast(5)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(15)|lung(24)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	66						c.(232-234)Cat>Aat		FERM and PDZ domain containing 2							49	47	48					10																	49457141		2203	4300	6503	SO:0001583	missense	143162				tight junction assembly	basolateral plasma membrane|cytoplasm|cytoskeleton|tight junction	1-phosphatidylinositol binding|protein binding	g.chr10:49457141G>T	AK123038	CCDS31195.1	10q11	2010-10-13			ENSG00000170324	ENSG00000170324			28572	protein-coding gene	gene with protein product		613323	"PDZ domain containing 5C"	PDZD5C, PDZK5C			Standard	NM_001018071		Approved	MGC35285	uc001jdv.3	Q68DX3	OTTHUMG00000018171	ENST00000374201.3:c.232C>A	10.37:g.49457141G>T	ENSP00000363317:p.His78Asn					FRMPD2_ENST00000305531.3_Missense_Mutation_p.H76N|FRMPD2_ENST00000407470.4_Missense_Mutation_p.H69N	p.H78N	NM_001018071.3	NP_001018081.3	Q68DX3	FRPD2_HUMAN		Kidney(211;0.201)	3	534	-			78			KIND.		B7WNW0|B7ZML5|Q2VY07|Q6GMQ9|Q6ZN38|Q6ZWI2|Q8N5T9	Missense_Mutation	SNP	ENST00000374201.3	37	c.232C>A	CCDS31195.1	.	.	.	.	.	.	.	.	.	.	G	7.459	0.644324	0.14451	.	.	ENSG00000170324	ENST00000374201;ENST00000305531;ENST00000407470	T;T;T	0.28255	1.62;1.62;1.62	5.47	4.37	0.52481	KIND (2);	.	.	.	.	T	0.31979	0.0814	L	0.43757	1.38	0.09310	N	1	P;P;P	0.49961	0.867;0.93;0.867	P;B;B	0.47251	0.542;0.186;0.359	T	0.10823	-1.0613	9	0.49607	T	0.09	.	10.0391	0.42146	0.1063:0.0:0.8937:0.0	.	76;78;69	Q68DX3-2;Q68DX3;F8WCT2	.;FRPD2_HUMAN;.	N	78;76;69	ENSP00000363317:H78N;ENSP00000307079:H76N;ENSP00000384339:H69N	ENSP00000307079:H76N	H	-	1	0	FRMPD2	49127147	0.820000	0.29190	0.347000	0.25668	0.504000	0.33889	1.929000	0.40114	2.593000	0.87608	0.655000	0.94253	CAT		0.532	FRMPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047923.3	NM_152428		17	45	1	0	1.64113e-05	1	1.94711e-05	17	45					T	49457141	G	T	49457141	3	4	49	1	0	0	0	0	1	0	0	0	6058	1290	45	5	3805	5	FRMPD2	10	49457141	Missense_Mutation	SNP	G	TCGA-EJ-5499-01A-01D-1576-08		49457141	86077606	24	2650											
LTBR	4055	broad.mit.edu	37	chr12	6495568	6495568	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gcactgcccagtccgacacaAcctgcaaaaatccattagag	14	6	7	14	1	0	1	0	0	0	1	2	2	2	1	4	0	3	2	4	0	4	1			TCGA-EJ-5499-01A-01D-1576-08	TCGA-EJ-5499-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eabee59a-01ca-476c-970c-72f69b24f6f1	f1ea82ad-41dd-4c0e-9328-73dd0548d125	g.chr12:6495568A>G	ENST00000228918.4	+	6	951	c.625A>G	c.(625-627)Acc>Gcc	p.T209A	LTBR_ENST00000543190.1_Silent_p.Q69Q|LTBR_ENST00000541102.1_Missense_Mutation_p.T102A|LTBR_ENST00000539925.1_Missense_Mutation_p.T190A	NM_002342.2	NP_002333.1	P36941	TNR3_HUMAN	lymphotoxin beta receptor (TNFR superfamily, member 3)	209					apoptotic process (GO:0006915)|cellular response to mechanical stimulus (GO:0071260)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of JNK cascade (GO:0046330)|signal transduction (GO:0007165)|viral process (GO:0016032)	integral component of membrane (GO:0016021)	identical protein binding (GO:0042802)|ubiquitin protein ligase binding (GO:0031625)	p.T209A(2)		breast(1)|cervix(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)	15						GTCCGACACAACCTGCAAAAA	0.577																																						ENST00000228918.4																			2	Substitution - Missense(2)	p.T209A(2)	prostate(2)	breast(1)|cervix(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)	15						c.(625-627)Acc>Gcc		lymphotoxin beta receptor (TNFR superfamily, member 3)							69	69	69					12																	6495568		2203	4300	6503	SO:0001583	missense	4055				apoptosis|cellular response to mechanical stimulus|interspecies interaction between organisms|positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to membrane	protein binding|receptor activity	g.chr12:6495568A>G	L04270	CCDS8544.1, CCDS59233.1	12p13	2013-05-22				ENSG00000111321		"Tumor necrosis factor receptor superfamily"	6718	protein-coding gene	gene with protein product		600979		D12S370		8171323, 8486360	Standard	NM_002342		Approved	TNFCR, TNFR-RP, TNFR2-RP, TNF-R-III, TNFRSF3	uc001qny.2	P36941		ENST00000228918.4:c.625A>G	12.37:g.6495568A>G	ENSP00000228918:p.Thr209Ala					LTBR_ENST00000539925.1_Missense_Mutation_p.T190A|LTBR_ENST00000541102.1_Missense_Mutation_p.T102A|LTBR_ENST00000543190.1_Silent_p.Q69Q	p.T209A	NM_002342.1	NP_002333.1	P36941	TNR3_HUMAN			6	951	+			209					B7Z1D2|D3DUR2|F5GXE7	Missense_Mutation	SNP	ENST00000228918.4	37	c.625A>G	CCDS8544.1	.	.	.	.	.	.	.	.	.	.	A	5.127	0.209074	0.09757	.	.	ENSG00000111321	ENST00000539925;ENST00000228918;ENST00000540343;ENST00000536876;ENST00000541102	T;T;T;T	0.60797	0.16;0.16;0.16;3.34	4.93	2.41	0.29592	TNFR/CD27/30/40/95 cysteine-rich region (2);	0.918539	0.09464	N	0.798607	T	0.45175	0.1329	L	0.43923	1.385	0.09310	N	1	B;B;B	0.15141	0.012;0.007;0.002	B;B;B	0.14023	0.01;0.005;0.002	T	0.32268	-0.9913	10	0.30078	T	0.28	-0.7177	4.3921	0.11346	0.694:0.2018:0.1042:0.0	.	190;190;209	F5GXE7;B7Z1D2;P36941	.;.;TNR3_HUMAN	A	190;209;102;204;102	ENSP00000440875:T190A;ENSP00000228918:T209A;ENSP00000437647:T204A;ENSP00000438605:T102A	ENSP00000228918:T209A	T	+	1	0	LTBR	6365829	0.000000	0.05858	0.659000	0.29680	0.040000	0.13550	0.349000	0.20055	0.747000	0.32809	0.459000	0.35465	ACC		0.577	LTBR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399422.1			11	29	0	0	0	1	0	11	29					G	6495568	A	G	6495568	3	3	49	1	0	0	0	0	1	0	0	0	9077	43	2	4	647	4	LTBR	12	6495568	Missense_Mutation	SNP	A	TCGA-EJ-5499-01A-01D-1576-08		6495568	127356327	25	2651											
CLEC1A	51267	broad.mit.edu	37	chr12	10234003	10234003	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cagtattggagagctggtagTactgaaaaactaacccaaat	16	9	9	7	0	0	2	0	1	0	1	0	3	0	2	1	2	4	4	1	2	7	5			TCGA-EJ-5499-01A-01D-1576-08	TCGA-EJ-5499-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eabee59a-01ca-476c-970c-72f69b24f6f1	f1ea82ad-41dd-4c0e-9328-73dd0548d125	g.chr12:10234003T>A	ENST00000315330.4	-	3	286	c.224A>T	c.(223-225)tAc>tTc	p.Y75F	CLEC1A_ENST00000457018.2_Missense_Mutation_p.Y42F|CLEC1A_ENST00000420265.2_Intron|RN7SKP161_ENST00000411110.1_RNA	NM_016511.2	NP_057595.2	Q8NC01	CLC1A_HUMAN	C-type lectin domain family 1, member A	75					cell surface receptor signaling pathway (GO:0007166)|defense response (GO:0006952)	integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)	carbohydrate binding (GO:0030246)|transmembrane signaling receptor activity (GO:0004888)	p.Y75F(1)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(9)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)	23						GAGCTGGTAGTACTGAAAAAC	0.363																																						ENST00000315330.4																			1	Substitution - Missense(1)	p.Y75F(1)	prostate(1)	breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(9)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)	23						c.(223-225)tAc>tTc		C-type lectin domain family 1, member A							103	102	102					12																	10234003		2203	4300	6503	SO:0001583	missense	51267				cell surface receptor linked signaling pathway|defense response	integral to plasma membrane|intracellular	sugar binding|transmembrane receptor activity	g.chr12:10234003T>A	AY358587	CCDS8612.1, CCDS73443.1	12p13.31	2005-02-09				ENSG00000150048		"C-type lectin domain containing"	24355	protein-coding gene	gene with protein product		606782				10671229, 11745369	Standard	XM_005253383		Approved	CLEC1, MGC34328	uc001qxb.3	Q8NC01		ENST00000315330.4:c.224A>T	12.37:g.10234003T>A	ENSP00000326407:p.Tyr75Phe					CLEC1A_ENST00000420265.2_Intron|CLEC1A_ENST00000457018.2_Missense_Mutation_p.Y42F	p.Y75F	NM_016511.2	NP_057595.2	Q8NC01	CLC1A_HUMAN			3	286	-			75					Q8IUW7|Q9NZH3	Missense_Mutation	SNP	ENST00000315330.4	37	c.224A>T	CCDS8612.1	.	.	.	.	.	.	.	.	.	.	T	2.116	-0.402514	0.04865	.	.	ENSG00000150048	ENST00000315330;ENST00000457018	T;T	0.01379	4.96;5.03	4.71	-1.23	0.09465	.	0.558526	0.16397	N	0.216217	T	0.00754	0.0025	N	0.10916	0.065	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.53408	-0.8443	10	0.11794	T	0.64	.	4.8277	0.13425	0.3393:0.0:0.0952:0.5655	.	42;75	E9PFB4;Q8NC01	.;CLC1A_HUMAN	F	75;42	ENSP00000326407:Y75F;ENSP00000415048:Y42F	ENSP00000326407:Y75F	Y	-	2	0	CLEC1A	10125270	0.998000	0.40836	0.994000	0.49952	0.922000	0.55478	0.557000	0.23454	-0.401000	0.07644	-0.490000	0.04691	TAC		0.363	CLEC1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399924.1	NM_016511		30	103	0	0	0	1	0	30	103					A	10234003	T	A	10234003	3	1	49	1	0	0	0	0	1	0	0	0	3505	1638	57	5	634	5	CLEC1A	12	10234003	Missense_Mutation	SNP	T	TCGA-EJ-5499-01A-01D-1576-08	3738435	10234003	123617892	26	2652											
ARHGDIB	397	broad.mit.edu	37	chr12	15102816	15102816	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caacgacattgggggctttcGgatctgcaggatcgaaaggg	10	8	15	8	3	1	0	0	0	1	0	3	4	1	2	0	5	2	2	0	5	2	2	rs544170735		TCGA-EJ-5499-01A-01D-1576-08	TCGA-EJ-5499-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eabee59a-01ca-476c-970c-72f69b24f6f1	f1ea82ad-41dd-4c0e-9328-73dd0548d125	g.chr12:15102816G>A	ENST00000228945.4	-	3	329	c.185C>T	c.(184-186)cCg>cTg	p.P62L	ARHGDIB_ENST00000541546.1_Missense_Mutation_p.P62L|ARHGDIB_ENST00000539131.1_5'Flank|ARHGDIB_ENST00000541644.1_Missense_Mutation_p.P62L	NM_001175.4	NP_001166.3	P52566	GDIR2_HUMAN	Rho GDP dissociation inhibitor (GDI) beta	62					actin cytoskeleton organization (GO:0030036)|cellular component movement (GO:0006928)|immune response (GO:0006955)|multicellular organismal development (GO:0007275)|negative regulation of cell adhesion (GO:0007162)|regulation of catalytic activity (GO:0050790)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	GTPase activator activity (GO:0005096)|Rho GDP-dissociation inhibitor activity (GO:0005094)	p.P62L(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)	15						GGGGGCTTTCGGATCTGCAGG	0.483																																						ENST00000228945.4																			1	Substitution - Missense(1)	p.P62L(1)	prostate(1)	breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)	15						c.(184-186)cCg>cTg		Rho GDP dissociation inhibitor (GDI) beta							108	97	101					12																	15102816		2203	4300	6503	SO:0001583	missense	397				actin cytoskeleton organization|cellular component movement|immune response|multicellular organismal development|negative regulation of cell adhesion|regulation of small GTPase mediated signal transduction|Rho protein signal transduction	cytoplasmic membrane-bounded vesicle|cytoskeleton|cytosol	GTPase activator activity|Rho GDP-dissociation inhibitor activity	g.chr12:15102816G>A	L07916	CCDS8671.1	12p12.3	2014-01-30				ENSG00000111348		"Endogenous ligands"	679	protein-coding gene	gene with protein product		602843		RAP1GN1, GDIA2, GDID4		8434008, 8356058	Standard	NM_001175		Approved	Ly-GDI, RhoGDI2	uc001rcq.1	P52566		ENST00000228945.4:c.185C>T	12.37:g.15102816G>A	ENSP00000228945:p.Pro62Leu					ARHGDIB_ENST00000541644.1_Missense_Mutation_p.P62L|ARHGDIB_ENST00000541546.1_Missense_Mutation_p.P62L	p.P62L	NM_001175.4	NP_001166.3	P52566	GDIR2_HUMAN			3	329	-			62					B5BU79	Missense_Mutation	SNP	ENST00000228945.4	37	c.185C>T	CCDS8671.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.232022	0.79688	.	.	ENSG00000111348	ENST00000228945;ENST00000541644;ENST00000541546;ENST00000545895;ENST00000541380;ENST00000542276	.	.	.	5.23	5.23	0.72850	Immunoglobulin E-set (1);	0.055730	0.64402	D	0.000001	T	0.77844	0.4191	H	0.94306	3.52	0.80722	D	1	B	0.33345	0.409	B	0.35813	0.211	T	0.82110	-0.0619	9	0.62326	D	0.03	-11.0867	16.3406	0.83081	0.0:0.0:1.0:0.0	.	62	P52566	GDIR2_HUMAN	L	62	.	ENSP00000228945:P62L	P	-	2	0	ARHGDIB	14994083	1.000000	0.71417	1.000000	0.80357	0.622000	0.37654	7.067000	0.76741	2.724000	0.93272	0.549000	0.68633	CCG		0.483	ARHGDIB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400871.1	NM_001175		28	109	0	0	0	1	0	28	109					A	15102816	G	A	15102816	3	1	49	1	0	0	0	0	1	0	0	0	891	1116	39	2	436	2	ARHGDIB	12	15102816	Missense_Mutation	SNP	G	TCGA-EJ-5499-01A-01D-1576-08	4868813	15102816	118749079	27	2653											
KRT6C	286887	broad.mit.edu	37	chr12	52863634	52863634	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttgagtgccatctccccaCgctgctcagcatcagcaatg	8	9	8	16	1	3	1	2	1	1	0	4	1	3	1	4	0	4	4	4	0	1	1			TCGA-EJ-5499-01A-01D-1576-08	TCGA-EJ-5499-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eabee59a-01ca-476c-970c-72f69b24f6f1	f1ea82ad-41dd-4c0e-9328-73dd0548d125	g.chr12:52863634C>T	ENST00000252250.6	-	7	1291	c.1244G>A	c.(1243-1245)cGt>cAt	p.R415H		NM_173086.4	NP_775109.2	P48668	K2C6C_HUMAN	keratin 6C	415	Coil 2.|Rod.				intermediate filament cytoskeleton organization (GO:0045104)	extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)	p.R415H(1)		cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|prostate(2)|skin(2)	23				BRCA - Breast invasive adenocarcinoma(357;0.0828)		CATCTCCCCACGCTGCTCAGC	0.602																																						ENST00000252250.6																			1	Substitution - Missense(1)	p.R415H(1)	prostate(1)	cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|prostate(2)|skin(2)	23						c.(1243-1245)cGt>cAt		keratin 6C							70	57	61					12																	52863634		2203	4300	6503	SO:0001583	missense	286887				cytoskeleton organization	keratin filament	structural molecule activity	g.chr12:52863634C>T	L42611	CCDS8829.1	12q13.13	2013-01-16	2006-07-17	2006-07-17	ENSG00000170465	ENSG00000170465		"-", "Intermediate filaments type II, keratins (basic)"	20406	protein-coding gene	gene with protein product		612315	"keratin 6E"	KRT6E		7543104, 16831889	Standard	NM_173086		Approved		uc001sal.4	P48668	OTTHUMG00000169596	ENST00000252250.6:c.1244G>A	12.37:g.52863634C>T	ENSP00000252250:p.Arg415His						p.R415H	NM_173086.4	NP_775109.2	P48668	K2C6C_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.0828)	7	1291	-			415			Coil 2.|Rod.		A1L4L5|P48666|Q2TAZ9|Q7RTN9	Missense_Mutation	SNP	ENST00000252250.6	37	c.1244G>A	CCDS8829.1	.	.	.	.	.	.	.	.	.	.	C	18.72	3.683509	0.68157	.	.	ENSG00000170465	ENST00000252250;ENST00000411979	D	0.90385	-2.66	3.92	3.01	0.34805	Filament (1);	0.000000	0.64402	D	0.000012	D	0.92391	0.7585	M	0.75615	2.305	0.46185	D	0.998916	D	0.58268	0.982	P	0.54346	0.749	D	0.92675	0.6153	10	0.59425	D	0.04	.	12.2772	0.54741	0.0:0.9108:0.0:0.0892	.	415	P48668	K2C6C_HUMAN	H	415;400	ENSP00000252250:R415H	ENSP00000252250:R415H	R	-	2	0	KRT6C	51149901	1.000000	0.71417	1.000000	0.80357	0.486000	0.33341	3.709000	0.54853	2.172000	0.68678	0.448000	0.29417	CGT		0.602	KRT6C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404976.1	NM_173086		19	75	0	0	0	1	0	19	75					T	52863634	C	T	52863634	3	4	49	1	0	0	0	0	1	0	0	0	8482	536	19	1	462	1	KRT6C	12	52863634	Missense_Mutation	SNP	C	TCGA-EJ-5499-01A-01D-1576-08	37760818	52863634	80988261	28	2654											
C12orf63	144535	broad.mit.edu	37	chr12	97093817	97093817	+	Frame_Shift_Del	DEL	A	A	-																															atatcccaaattttctatggAaaaaacatgccttgtccaat																										TCGA-EJ-5499-01A-01D-1576-08	TCGA-EJ-5499-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eabee59a-01ca-476c-970c-72f69b24f6f1	f1ea82ad-41dd-4c0e-9328-73dd0548d125	g.chr12:97093817delA	ENST00000524981.4	+	46	6443	c.6420delA	c.(6418-6420)ggafs	p.G2140fs				Q96N23	CL055_HUMAN		0																	TTTTCTATGGAAAAAACATGC	0.343																																						ENST00000524981.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(26)|ovary(1)|prostate(2)|skin(11)|stomach(2)	54						c.(1771-1773)ggfs									76	83	81					12																	97093817		2203	4299	6502	SO:0001589	frameshift_variant	0							g.chr12:97093817delA																												ENST00000524981.4:c.6420delA	12.37:g.97093817delA	ENSP00000431759:p.Gly2140fs						p.G591fs			Q6ZTY8	CL063_HUMAN			13	1773	+			565						Frame_Shift_Del	DEL	ENST00000524981.4	37	c.1773delA																																																																																					0.343	C12orf55-003	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf	protein_coding	protein_coding	OTTHUMT00000395046.4			56	247						56	247	---	---	---	---	-	97093817	A	-	97093817	7	5	49	1	0	1	0	1	0	0	0	0	1706	233	9	0	1741	0	C12orf63	12	97093817	Frame_Shift_Del	DEL	A	TCGA-EJ-5499-01A-01D-1576-08	44230183	97093817	36758078	29	2655											
C12orf51	283450	broad.mit.edu	37	chr12	112717041	112717041	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aattcacttactttttaaagAtgacaaaccacttgttccac	14	14	3	10	0	1	2	1	1	0	1	2	2	2	2	2	0	2	1	2	0	5	7			TCGA-EJ-5499-01A-01D-1576-08	TCGA-EJ-5499-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eabee59a-01ca-476c-970c-72f69b24f6f1	f1ea82ad-41dd-4c0e-9328-73dd0548d125	g.chr12:112717041A>G	ENST00000430131.2	-	9	1641	c.496T>C	c.(496-498)Tct>Cct	p.S166P	HECTD4_ENST00000550722.1_Missense_Mutation_p.S416P|HECTD4_ENST00000377560.5_Missense_Mutation_p.S416P			Q9Y4D8	HECD4_HUMAN	HECT domain containing E3 ubiquitin protein ligase 4	166					glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)	p.S416P(1)|p.S166P(1)									CTTTTTAAAGATGACAAACCA	0.398																																						ENST00000550722.1																			2	Substitution - Missense(2)	p.S416P(1)|p.S166P(1)	prostate(2)								c.(1246-1248)Tct>Cct		HECT domain containing E3 ubiquitin protein ligase 4							72	71	71					12																	112717041		1846	4085	5931	SO:0001583	missense	283450							g.chr12:112717041A>G	AK091473		12q24.13	2013-07-17	2012-08-14	2012-08-14	ENSG00000173064	ENSG00000173064			26611	protein-coding gene	gene with protein product			"chromosome 12 open reading frame 51"	C12orf51		21270382	Standard	NM_001109662		Approved	FLJ34154, KIAA0614	uc021reb.1	Q9Y4D8	OTTHUMG00000150719	ENST00000430131.2:c.496T>C	12.37:g.112717041A>G	ENSP00000404379:p.Ser166Pro					HECTD4_ENST00000430131.2_Missense_Mutation_p.S166P|HECTD4_ENST00000377560.5_Missense_Mutation_p.S416P	p.S416P	NM_001109662.3	NP_001103132.3					9	1641	-								L8B0P6|Q3MJD5|Q6P0A0|Q7L530|Q8NB70|Q8WU73|Q96NT9|Q9NZS4|Q9UFT6	Missense_Mutation	SNP	ENST00000430131.2	37	c.1246T>C		.	.	.	.	.	.	.	.	.	.	A	19.50	3.840147	0.71488	.	.	ENSG00000173064	ENST00000377560;ENST00000430131;ENST00000550722	T;T;T	0.52295	0.73;0.72;0.67	5.54	5.54	0.83059	.	.	.	.	.	T	0.51805	0.1696	N	0.14661	0.345	0.48632	D	0.999686	D	0.54601	0.967	D	0.65874	0.939	T	0.60094	-0.7330	9	0.87932	D	0	.	15.6803	0.77364	1.0:0.0:0.0:0.0	.	166	Q9Y4D8	K0614_HUMAN	P	416;166;416	ENSP00000366783:S416P;ENSP00000404379:S166P;ENSP00000449784:S416P	ENSP00000366783:S416P	S	-	1	0	C12orf51	111201424	1.000000	0.71417	0.999000	0.59377	0.993000	0.82548	8.879000	0.92398	2.115000	0.64714	0.482000	0.46254	TCT		0.398	HECTD4-202	KNOWN	basic	protein_coding	protein_coding		NM_173813		25	92	0	0	0	1	0	25	92					G	112717041	A	G	112717041	3	3	49	1	0	0	0	0	1	0	0	0	1696	333	12	4	11762	4	C12orf51	12	112717041	Missense_Mutation	SNP	A	TCGA-EJ-5499-01A-01D-1576-08	15623224	112717041	21134854	30	2656											
RPH3A	22895	broad.mit.edu	37	chr12	113321125	113321125	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agcttcgtacaaaaactctgCggaatacccggaaccccatc	13	7	7	14	3	1	0	0	0	1	0	3	2	1	2	3	2	6	2	3	2	6	3			TCGA-EJ-5499-01A-01D-1576-08	TCGA-EJ-5499-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eabee59a-01ca-476c-970c-72f69b24f6f1	f1ea82ad-41dd-4c0e-9328-73dd0548d125	g.chr12:113321125C>T	ENST00000389385.4	+	16	1851	c.1354C>T	c.(1354-1356)Cgg>Tgg	p.R452W	RPH3A_ENST00000420983.2_Missense_Mutation_p.R452W|RPH3A_ENST00000548866.1_Missense_Mutation_p.R403W|RPH3A_ENST00000543106.2_Missense_Mutation_p.R452W|RPH3A_ENST00000549913.2_3'UTR|RPH3A_ENST00000551052.1_Missense_Mutation_p.R448W|RPH3A_ENST00000415485.3_Missense_Mutation_p.R452W|RPH3A_ENST00000447659.2_Missense_Mutation_p.R403W	NM_001143854.1|NM_014954.3	NP_001137326.1|NP_055769.2	Q9Y2J0	RP3A_HUMAN	rabphilin 3A	452	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.				intracellular protein transport (GO:0006886)	cell junction (GO:0030054)|membrane (GO:0016020)|synaptic vesicle (GO:0008021)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|phosphatidylinositol phosphate binding (GO:1901981)|transporter activity (GO:0005215)	p.R448W(1)|p.R452W(1)		breast(1)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)|ovary(3)|prostate(4)|skin(6)|urinary_tract(1)	47				BRCA - Breast invasive adenocarcinoma(302;0.00453)		AAAAACTCTGCGGAATACCCG	0.562																																						ENST00000389385.4																			2	Substitution - Missense(2)	p.R448W(1)|p.R452W(1)	prostate(2)	breast(1)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)|ovary(3)|prostate(4)|skin(6)|urinary_tract(1)	47						c.(1354-1356)Cgg>Tgg		rabphilin 3A homolog (mouse)							76	61	66					12																	113321125		2203	4300	6503	SO:0001583	missense	22895				intracellular protein transport	cell junction|synaptic vesicle	Rab GTPase binding|transporter activity|zinc ion binding	g.chr12:113321125C>T	AB023202	CCDS31904.1, CCDS44979.1	12q24.13	2014-07-02	2014-07-02		ENSG00000089169	ENSG00000089169		"Synaptotagmins"	17056	protein-coding gene	gene with protein product		612159	"rabphilin 3A homolog (mouse)"			10231032, 7822236	Standard	NM_014954		Approved	KIAA0985, rabphilin, exophilin-1	uc001ttz.3	Q9Y2J0	OTTHUMG00000169713	ENST00000389385.4:c.1354C>T	12.37:g.113321125C>T	ENSP00000374036:p.Arg452Trp					RPH3A_ENST00000543106.2_Missense_Mutation_p.R452W|RPH3A_ENST00000447659.2_Missense_Mutation_p.R403W|RPH3A_ENST00000415485.3_Missense_Mutation_p.R452W|RPH3A_ENST00000549913.2_3'UTR|RPH3A_ENST00000420983.2_Missense_Mutation_p.R452W|RPH3A_ENST00000551052.1_Missense_Mutation_p.R448W|RPH3A_ENST00000548866.1_Missense_Mutation_p.R403W	p.R452W	NM_001143854.1|NM_014954.3	NP_001137326.1|NP_055769.2	Q9Y2J0	RP3A_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.00453)	16	1851	+			452			C2 1.		B7Z3C3|Q96AE0	Missense_Mutation	SNP	ENST00000389385.4	37	c.1354C>T	CCDS44979.1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.356011	0.82243	.	.	ENSG00000089169	ENST00000543106;ENST00000389385;ENST00000447659;ENST00000551052;ENST00000415485;ENST00000548866;ENST00000420983;ENST00000549913;ENST00000552755	T;T;T;T;T;T;T	0.70631	-0.5;-0.5;-0.5;-0.5;-0.5;-0.5;-0.5	5.43	4.47	0.54385	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.56097	D	0.000038	T	0.79358	0.4432	L	0.58101	1.795	0.58432	D	0.999997	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.78314	0.991;0.977;0.977;0.991	T	0.80446	-0.1379	10	0.87932	D	0	.	10.4843	0.44713	0.3759:0.6241:0.0:0.0	.	403;452;452;448	F8VP47;B7Z9Z7;Q9Y2J0;Q9Y2J0-2	.;.;RP3A_HUMAN;.	W	452;452;403;448;452;403;452;104;104	ENSP00000440384:R452W;ENSP00000374036:R452W;ENSP00000413254:R403W;ENSP00000448297:R448W;ENSP00000405357:R452W;ENSP00000450347:R403W;ENSP00000408889:R452W	ENSP00000374036:R452W	R	+	1	2	RPH3A	111805508	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	3.015000	0.49599	2.546000	0.85860	0.551000	0.68910	CGG		0.562	RPH3A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000405561.1	NM_014954		14	67	0	0	0	1	0	14	67					T	113321125	C	T	113321125	3	4	49	1	0	0	0	0	1	0	0	0	13551	759	27	1	1408	1	RPH3A	12	113321125	Missense_Mutation	SNP	C	TCGA-EJ-5499-01A-01D-1576-08	604084	113321125	20530770	31	2657											
SPTB	6710	broad.mit.edu	37	chr14	65239589	65239589	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccgcgtcgatgagtcgctcGatgaaggcattcacattgtc	8	10	11	12	5	1	2	1	2	0	0	5	4	1	2	1	1	0	2	1	1	1	2	rs142168941		TCGA-EJ-5499-01A-01D-1576-08	TCGA-EJ-5499-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eabee59a-01ca-476c-970c-72f69b24f6f1	f1ea82ad-41dd-4c0e-9328-73dd0548d125	g.chr14:65239589G>T	ENST00000389721.5	-	25	5294	c.5262C>A	c.(5260-5262)atC>atA	p.I1754I	SPTB_ENST00000389722.3_Silent_p.I1754I|SPTB_ENST00000389720.3_Silent_p.I1754I|SPTB_ENST00000556626.1_Silent_p.I1754I|SPTB_ENST00000542895.1_Silent_p.I1754I	NM_000347.5	NP_000338.3	P11277	SPTB1_HUMAN	spectrin, beta, erythrocytic	1754					actin filament capping (GO:0051693)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)	actin cytoskeleton (GO:0015629)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|protein complex (GO:0043234)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ankyrin binding (GO:0030506)|structural constituent of cytoskeleton (GO:0005200)	p.I1754I(1)		breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		TGAGTCGCTCGATGAAGGCAT	0.637																																						ENST00000389722.3																			1	Substitution - coding silent(1)	p.I1754I(1)	prostate(1)	breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106						c.(5260-5262)atC>atA		spectrin, beta, erythrocytic							49	43	45					14																	65239589		2203	4300	6503	SO:0001819	synonymous_variant	6710				actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton	g.chr14:65239589G>T		CCDS32099.1, CCDS32100.1	14q24.1-q24.2	2013-01-10	2008-07-29			ENSG00000070182		"Pleckstrin homology (PH) domain containing"	11274	protein-coding gene	gene with protein product	"spherocytosis, clinical type I"	182870				2209094	Standard	NM_001024858		Approved		uc001xhr.3	P11277		ENST00000389721.5:c.5262C>A	14.37:g.65239589G>T						SPTB_ENST00000389720.3_Silent_p.I1754I|SPTB_ENST00000389721.5_Silent_p.I1754I|SPTB_ENST00000542895.1_Silent_p.I1754I|SPTB_ENST00000556626.1_Silent_p.I1754I	p.I1754I	NM_001024858.2	NP_001020029.1	P11277	SPTB1_HUMAN		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)	25	5315	-		all_lung(585;4.15e-09)	1754					Q15510|Q15519	Silent	SNP	ENST00000389721.5	37	c.5262C>A	CCDS32100.1																																																																																				0.637	SPTB-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000414080.1			18	52	1	0	1.74485e-21	1	2.14279e-21	18	52					T	65239589	G	T	65239589	2	4	49	1	0	0	0	0	0	0	0	1	15117	1048	37	5		5	SPTB	14	65239589	Silent	SNP	G	TCGA-EJ-5499-01A-01D-1576-08		65239589	42109951	32	2658											
PAPLN	89932	broad.mit.edu	37	chr14	73719443	73719443	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gccagccacggccagctgacCggcgttcctgcaatcttcac	7	7	10	17	3	2	1	1	1	1	0	3	1	3	1	5	2	3	3	5	2	1	2	rs200690849		TCGA-EJ-5499-01A-01D-1576-08	TCGA-EJ-5499-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eabee59a-01ca-476c-970c-72f69b24f6f1	f1ea82ad-41dd-4c0e-9328-73dd0548d125	g.chr14:73719443C>T	ENST00000554301.1	+	10	1217	c.1054C>T	c.(1054-1056)Cgg>Tgg	p.R352W	PAPLN_ENST00000340738.5_Missense_Mutation_p.R325W|PAPLN_ENST00000427855.1_Missense_Mutation_p.R352W|PAPLN_ENST00000381166.3_Missense_Mutation_p.R352W|PAPLN_ENST00000555445.1_Missense_Mutation_p.R352W			O95428	PPN_HUMAN	papilin, proteoglycan-like sulfated glycoprotein	352	TSP type-1 2. {ECO:0000255|PROSITE- ProRule:PRU00210}.					basement membrane (GO:0005604)	metalloendopeptidase activity (GO:0004222)|serine-type endopeptidase inhibitor activity (GO:0004867)|zinc ion binding (GO:0008270)	p.R352W(1)|p.R325W(1)		NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(3)	42				BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.0468)		GCCAGCTGACCGGCGTTCCTG	0.642																																						ENST00000427855.1																			2	Substitution - Missense(2)	p.R352W(1)|p.R325W(1)	prostate(2)	NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(3)	42						c.(1054-1056)Cgg>Tgg		papilin, proteoglycan-like sulfated glycoprotein							81	82	82					14																	73719443		2203	4300	6503	SO:0001583	missense	89932					proteinaceous extracellular matrix	metalloendopeptidase activity|serine-type endopeptidase inhibitor activity|zinc ion binding	g.chr14:73719443C>T	BC042057	CCDS32114.1	14q24.2	2013-01-11				ENSG00000100767		"Immunoglobulin superfamily / I-set domain containing"	19262	protein-coding gene	gene with protein product						11076767, 19734141	Standard	NM_173462		Approved	MGC50452	uc001xnw.4	O95428		ENST00000554301.1:c.1054C>T	14.37:g.73719443C>T	ENSP00000451803:p.Arg352Trp					PAPLN_ENST00000381166.3_Missense_Mutation_p.R352W|PAPLN_ENST00000555445.1_Missense_Mutation_p.R352W|PAPLN_ENST00000554301.1_Missense_Mutation_p.R352W|PAPLN_ENST00000340738.5_Missense_Mutation_p.R325W	p.R352W			O95428	PPN_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.0468)	11	1156	+			352			TSP type-1 2.		B4DES8|B4DGE6|Q659F2|Q6UXJ4|Q6ZNM1|Q6ZUJ0|Q7Z681|Q8IVU0	Missense_Mutation	SNP	ENST00000554301.1	37	c.1054C>T		.	.	.	.	.	.	.	.	.	.	C	15.60	2.881321	0.51801	.	.	ENSG00000100767	ENST00000340738;ENST00000427855;ENST00000381166;ENST00000554301;ENST00000555445	T;T;T;T;T	0.61392	0.11;0.11;0.11;0.11;0.11	5.22	2.1	0.27182	.	.	.	.	.	T	0.68732	0.3033	M	0.69463	2.115	0.33241	D	0.557202	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.68765	0.932;0.96;0.951	T	0.74569	-0.3622	9	0.72032	D	0.01	.	7.9987	0.30284	0.5444:0.3405:0.1152:0.0	.	352;352;325	O95428-5;O95428;O95428-6	.;PPN_HUMAN;.	W	325;352;352;352;352	ENSP00000345395:R325W;ENSP00000403403:R352W;ENSP00000370558:R352W;ENSP00000451803:R352W;ENSP00000451729:R352W	ENSP00000216658:R352W	R	+	1	2	PAPLN	72789196	1.000000	0.71417	0.016000	0.15963	0.150000	0.21749	4.648000	0.61425	1.149000	0.42402	0.462000	0.41574	CGG		0.642	PAPLN-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000413182.1	NM_173462		39	125	0	0	0	1	0	39	125					T	73719443	C	T	73719443	3	4	49	1	0	0	0	0	1	0	0	0	11428	643	23	2	1007	2	PAPLN	14	73719443	Missense_Mutation	SNP	C	TCGA-EJ-5499-01A-01D-1576-08	8479854	73719443	33630097	33	2659											
ITGAL	3683	broad.mit.edu	37	chr16	30495266	30495266	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atgcggccaaagacatcatcCgctacatcatcggggtaggg	11	7	12	11	3	2	1	2	0	0	1	4	1	3	1	2	4	2	2	2	4	3	2			TCGA-EJ-5499-01A-01D-1576-08	TCGA-EJ-5499-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eabee59a-01ca-476c-970c-72f69b24f6f1	f1ea82ad-41dd-4c0e-9328-73dd0548d125	g.chr16:30495266C>T	ENST00000356798.6	+	8	1021	c.841C>T	c.(841-843)Cgc>Tgc	p.R281C	ITGAL_ENST00000454514.2_3'UTR|RNU7-61P_ENST00000515897.1_RNA|RP11-297C4.2_ENST00000569459.1_RNA|RP11-297C4.3_ENST00000562525.1_RNA|ITGAL_ENST00000358164.5_Missense_Mutation_p.R198C|ITGAL_ENST00000433423.2_Intron	NM_002209.2	NP_002200.2	P20701	ITAL_HUMAN	integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide)	281	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				activated T cell proliferation (GO:0050798)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|cellular component movement (GO:0006928)|extracellular matrix organization (GO:0030198)|heterophilic cell-cell adhesion (GO:0007157)|inflammatory response (GO:0006954)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of T cell proliferation (GO:0042102)|receptor clustering (GO:0043113)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell (GO:0002291)	cell surface (GO:0009986)|cell-cell junction (GO:0005911)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|integrin alphaL-beta2 complex (GO:0034687)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|ICAM-3 receptor activity (GO:0030369)|metal ion binding (GO:0046872)	p.R281S(1)|p.R281C(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	76					Antithymocyte globulin(DB00098)|Efalizumab(DB00095)|Lovastatin(DB00227)	AGACATCATCCGCTACATCAT	0.587																																					NSCLC(110;1462 1641 3311 33990 49495)	ENST00000356798.6																			2	Substitution - Missense(2)	p.R281S(1)|p.R281C(1)	prostate(1)|lung(1)	breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	76						c.(841-843)Cgc>Tgc		integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide)	Efalizumab(DB00095)						183	159	167					16																	30495266		2197	4300	6497	SO:0001583	missense	0				blood coagulation|heterophilic cell-cell adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell	integrin complex	cell adhesion molecule binding|receptor activity	g.chr16:30495266C>T		CCDS32433.1, CCDS45461.1	16p13.1-p11	2010-03-23				ENSG00000005844		"CD molecules", "Integrins"	6148	protein-coding gene	gene with protein product		153370		CD11A		3284962	Standard	NM_002209		Approved	LFA-1	uc002dyi.4	P20701		ENST00000356798.6:c.841C>T	16.37:g.30495266C>T	ENSP00000349252:p.Arg281Cys					ITGAL_ENST00000358164.5_Missense_Mutation_p.R198C|ITGAL_ENST00000454514.2_3'UTR|ITGAL_ENST00000433423.2_Intron|RP11-297C4.2_ENST00000569459.1_RNA	p.R281C	NM_002209.2	NP_002200.2	P20701	ITAL_HUMAN			8	1021	+			281			VWFA.		O43746|Q45H73|Q96HB1|Q9UBC8	Missense_Mutation	SNP	ENST00000356798.6	37	c.841C>T	CCDS32433.1	.	.	.	.	.	.	.	.	.	.	C	28.7	4.942421	0.92526	.	.	ENSG00000005844	ENST00000356798;ENST00000358164	T;T	0.22539	1.95;1.95	5.97	5.97	0.96955	von Willebrand factor, type A (3);	0.000000	0.49916	D	0.000122	T	0.58104	0.2099	M	0.92077	3.27	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	T	0.66799	-0.5832	10	0.87932	D	0	.	17.3303	0.87261	0.0:1.0:0.0:0.0	.	198;281	Q96HB1;P20701	.;ITAL_HUMAN	C	281;198	ENSP00000349252:R281C;ENSP00000350886:R198C	ENSP00000349252:R281C	R	+	1	0	ITGAL	30402767	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.727000	0.61993	2.835000	0.97688	0.591000	0.81541	CGC		0.587	ITGAL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434508.2			31	252	0	0	0	1	0	31	252					T	30495266	C	T	30495266	3	4	49	1	0	0	0	0	1	0	0	0	7886	652	23	2	871	2	ITGAL	16	30495266	Missense_Mutation	SNP	C	TCGA-EJ-5499-01A-01D-1576-08		30495266	59859487	34	2660											
DDX28	55794	broad.mit.edu	37	chr16	68056489	68056489	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gggaaggaacaaggaccaggCctcggggcgcggggatagga	11	2	20	8	3	0	0	0	0	0	0	1	5	0	5	2	9	1	0	2	9	4	1			TCGA-EJ-5499-01A-01D-1576-08	TCGA-EJ-5499-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eabee59a-01ca-476c-970c-72f69b24f6f1	f1ea82ad-41dd-4c0e-9328-73dd0548d125	g.chr16:68056489C>A	ENST00000332395.5	-	1	1281	c.617G>T	c.(616-618)gGc>gTc	p.G206V	DUS2_ENST00000432752.1_5'Flank|DUS2_ENST00000565263.1_5'Flank|DUS2_ENST00000358896.6_5'Flank	NM_018380.3	NP_060850.2	Q9NUL7	DDX28_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 28	206	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.					mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)	p.G206V(2)		central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	13		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0116)|Epithelial(162;0.0474)|all cancers(182;0.233)		AAGGACCAGGCCTCGGGGCGC	0.662																																						ENST00000332395.5																			2	Substitution - Missense(2)	p.G206V(2)	prostate(2)	central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	13						c.(616-618)gGc>gTc		DEAD (Asp-Glu-Ala-Asp) box polypeptide 28							31	37	35					16																	68056489		2193	4295	6488	SO:0001583	missense	55794					mitochondrial nucleoid|nucleus	ATP binding|ATP-dependent helicase activity|RNA binding	g.chr16:68056489C>A	AF329821	CCDS10858.1	16q22.1-q22.3	2008-02-05	2003-06-13		ENSG00000182810	ENSG00000182810		"DEAD-boxes"	17330	protein-coding gene	gene with protein product		607618	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 28"			10493829, 11350955	Standard	NM_018380		Approved	MDDX28, FLJ11282	uc002evh.2	Q9NUL7	OTTHUMG00000137549	ENST00000332395.5:c.617G>T	16.37:g.68056489C>A	ENSP00000332340:p.Gly206Val						p.G206V	NM_018380.3	NP_060850.2	Q9NUL7	DDX28_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0116)|Epithelial(162;0.0474)|all cancers(182;0.233)	1	1281	-		Ovarian(137;0.0563)	206			Helicase ATP-binding.			Missense_Mutation	SNP	ENST00000332395.5	37	c.617G>T	CCDS10858.1	.	.	.	.	.	.	.	.	.	.	C	14.48	2.547264	0.45383	.	.	ENSG00000182810	ENST00000332395	T	0.12569	2.67	4.99	3.99	0.46301	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.170443	0.51477	D	0.000090	T	0.10895	0.0266	N	0.04959	-0.14	0.53005	D	0.999963	B	0.29508	0.246	B	0.41174	0.349	T	0.35226	-0.9797	10	0.48119	T	0.1	-17.2886	14.3328	0.66569	0.0:0.8517:0.1483:0.0	.	206	Q9NUL7	DDX28_HUMAN	V	206	ENSP00000332340:G206V	ENSP00000332340:G206V	G	-	2	0	DDX28	66613990	0.431000	0.25546	0.988000	0.46212	0.229000	0.25112	1.158000	0.31737	2.610000	0.88304	0.561000	0.74099	GGC		0.662	DDX28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268883.1	NM_018380		6	69	1	0	0.00116845	1	0.00134084	6	69					A	68056489	C	A	68056489	3	1	49	1	0	0	0	0	1	0	0	0	4355	739	26	5	1009	5	DDX28	16	68056489	Missense_Mutation	SNP	C	TCGA-EJ-5499-01A-01D-1576-08	37561223	68056489	22298264	35	2661											
TRIM37	4591	broad.mit.edu	37	chr17	57128666	57128666	+	Frame_Shift_Del	DEL	A	A	-																															ggtcccgggatttttgaaagAaagttggtgaacgtacctga																										TCGA-EJ-5499-01A-01D-1576-08	TCGA-EJ-5499-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eabee59a-01ca-476c-970c-72f69b24f6f1	f1ea82ad-41dd-4c0e-9328-73dd0548d125	g.chr17:57128666delA	ENST00000262294.7	-	14	1482	c.1223delT	c.(1222-1224)ttcfs	p.F409fs	TRIM37_ENST00000393065.2_Frame_Shift_Del_p.F375fs|TRIM37_ENST00000393066.3_Frame_Shift_Del_p.F409fs|TRIM37_ENST00000376149.3_Frame_Shift_Del_p.F287fs	NM_015294.3	NP_056109.1	O94972	TRI37_HUMAN	tripartite motif containing 37	409					aggresome assembly (GO:0070842)|negative regulation of centriole replication (GO:0046600)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein autoubiquitination (GO:0051865)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|peroxisome (GO:0005777)	chromatin binding (GO:0003682)|ligase activity (GO:0016874)|protein homodimerization activity (GO:0042803)|tumor necrosis factor receptor binding (GO:0005164)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(13)|ovary(1)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	Medulloblastoma(34;0.0922)|all_neural(34;0.101)					TTTTTGAAAGAAAGTTGGTGA	0.338									Mulibrey Nanism																													ENST00000376149.3																			0				breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(13)|ovary(1)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						c.(856-858)tcfs		tripartite motif containing 37							99	98	98					17																	57128666		2203	4300	6503	SO:0001589	frameshift_variant	4591	Mulibrey Nanism	Familial Cancer Database	Perheentupa syndrome		perinuclear region of cytoplasm|peroxisome	ligase activity|protein binding|zinc ion binding	g.chr17:57128666delA	AB020705	CCDS32694.1, CCDS45746.1	17q	2014-02-17	2011-01-25	2001-11-30		ENSG00000108395		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	7523	protein-coding gene	gene with protein product	"RING-B-box-coiled-coil protein"	605073	"tripartite motif-containing 37"	MUL		9106536, 10888877	Standard	NM_015294		Approved	KIAA0898, POB1, TEF3	uc002iwy.4	O94972		ENST00000262294.7:c.1223delT	17.37:g.57128666delA	ENSP00000262294:p.Phe409fs					TRIM37_ENST00000393065.2_Frame_Shift_Del_p.F375fs|TRIM37_ENST00000393066.3_Frame_Shift_Del_p.F409fs|TRIM37_ENST00000262294.7_Frame_Shift_Del_p.F409fs	p.F287fs			O94972	TRI37_HUMAN			14	1666	-	Medulloblastoma(34;0.0922)|all_neural(34;0.101)		409			MATH.		Q7Z3E6|Q8IYF7|Q8WYF7	Frame_Shift_Del	DEL	ENST00000262294.7	37	c.857delT	CCDS32694.1																																																																																				0.338	TRIM37-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445930.1	NM_015294		32	127						32	127	---	---	---	---	-	57128666	A	-	57128666	7	5	49	1	0	1	0	1	0	0	0	0	16508	246	9	0	1723	0	TRIM37	17	57128666	Frame_Shift_Del	DEL	A	TCGA-EJ-5499-01A-01D-1576-08		57128666	24066544	36	2662											
ST8SIA3	51046	broad.mit.edu	37	chr18	55024179	55024179	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gcatgtcgatgtaataaaaaAtttttctttgaccaagaata	16	14	6	5	1	1	2	0	1	1	1	2	3	1	2	1	0	0	2	1	0	7	6			TCGA-EJ-5499-01A-01D-1576-08	TCGA-EJ-5499-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eabee59a-01ca-476c-970c-72f69b24f6f1	f1ea82ad-41dd-4c0e-9328-73dd0548d125	g.chr18:55024179A>T	ENST00000324000.3	+	3	2372	c.338A>T	c.(337-339)aAt>aTt	p.N113I		NM_015879.2	NP_056963.2	O43173	SIA8C_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 3	113					cellular protein metabolic process (GO:0044267)|ganglioside biosynthetic process (GO:0001574)|glycoprotein metabolic process (GO:0009100)|glycosphingolipid biosynthetic process (GO:0006688)|N-glycan processing (GO:0006491)|oligosaccharide metabolic process (GO:0009311)|post-translational protein modification (GO:0043687)|protein glycosylation (GO:0006486)|protein N-linked glycosylation via asparagine (GO:0018279)|sialylation (GO:0097503)	Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity (GO:0003828)|sialic acid binding (GO:0033691)	p.N113I(1)		breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(16)|prostate(1)|skin(3)	36				READ - Rectum adenocarcinoma(59;0.19)|Colorectal(16;0.205)		GTAATAAAAAATTTTTCTTTG	0.318																																						ENST00000324000.3																			1	Substitution - Missense(1)	p.N113I(1)	prostate(1)	breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(16)|prostate(1)|skin(3)	36						c.(337-339)aAt>aTt		ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 3							57	61	59					18																	55024179		2202	4300	6502	SO:0001583	missense	51046				glycosphingolipid biosynthetic process|N-glycan processing|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity	g.chr18:55024179A>T	AF004668	CCDS32834.1	18q21.31	2013-03-01	2005-02-07	2005-02-07	ENSG00000177511	ENSG00000177511		"Sialyltransferases"	14269	protein-coding gene	gene with protein product	"ST8Sia III"	609478	"sialyltransferase 8C (alpha2,3Galbeta1,4GlcNAcalpha 2,8-sialyltransferase)"	SIAT8C			Standard	NM_015879		Approved		uc002lgn.3	O43173	OTTHUMG00000180101	ENST00000324000.3:c.338A>T	18.37:g.55024179A>T	ENSP00000320431:p.Asn113Ile						p.N113I	NM_015879.2	NP_056963.2	O43173	SIA8C_HUMAN		READ - Rectum adenocarcinoma(59;0.19)|Colorectal(16;0.205)	3	2372	+			113					A8K0F2|Q6B085|Q9NS41	Missense_Mutation	SNP	ENST00000324000.3	37	c.338A>T	CCDS32834.1	.	.	.	.	.	.	.	.	.	.	A	18.99	3.739995	0.69304	.	.	ENSG00000177511	ENST00000541833;ENST00000324000	T	0.30448	1.53	5.74	5.74	0.90152	.	0.000000	0.85682	D	0.000000	T	0.44222	0.1283	M	0.81112	2.525	0.80722	D	1	P	0.49253	0.921	P	0.47251	0.542	T	0.42015	-0.9476	10	0.26408	T	0.33	0.0048	15.7114	0.77631	1.0:0.0:0.0:0.0	.	113	O43173	SIA8C_HUMAN	I	220;113	ENSP00000320431:N113I	ENSP00000320431:N113I	N	+	2	0	ST8SIA3	53175177	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.936000	0.92931	2.193000	0.70182	0.533000	0.62120	AAT		0.318	ST8SIA3-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449765.1	NM_015879		35	146	0	0	0	1	0	35	146					T	55024179	A	T	55024179	3	4	49	1	0	0	0	0	1	0	0	0	15232	101	4	5	348	5	ST8SIA3	18	55024179	Missense_Mutation	SNP	A	TCGA-EJ-5499-01A-01D-1576-08		55024179	23053069	37	2663											
TMEM205	374882	broad.mit.edu	37	chr19	11453676	11453676	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctggtggctgcctggtacctCcccacccaggcctcgctcct	3	9	10	19	1	0	0	0	0	0	0	3	0	2	0	7	4	2	3	7	4	1	1			TCGA-EJ-5499-01A-01D-1576-08	TCGA-EJ-5499-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eabee59a-01ca-476c-970c-72f69b24f6f1	f1ea82ad-41dd-4c0e-9328-73dd0548d125	g.chr19:11453676C>A	ENST00000354882.5	-	3	811	c.385G>T	c.(385-387)Gag>Tag	p.E129*	TMEM205_ENST00000589555.1_Nonsense_Mutation_p.E129*|TMEM205_ENST00000586956.1_Nonsense_Mutation_p.E129*|TMEM205_ENST00000587948.1_Nonsense_Mutation_p.E129*|TMEM205_ENST00000593256.2_Nonsense_Mutation_p.E129*|TMEM205_ENST00000586590.1_Nonsense_Mutation_p.E129*|TMEM205_ENST00000586218.1_Nonsense_Mutation_p.E68*|TMEM205_ENST00000447337.1_Nonsense_Mutation_p.E129*|TMEM205_ENST00000588560.1_Nonsense_Mutation_p.E129*|RAB3D_ENST00000589655.1_Intron|CCDC159_ENST00000588790.1_5'Flank			Q6UW68	TM205_HUMAN	transmembrane protein 205	129						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				endometrium(1)|lung(1)	2						CCTGGTACCTCCCCACCCAGG	0.647																																						ENST00000354882.5																			0				endometrium(1)|lung(1)	2						c.(385-387)Gag>Tag		transmembrane protein 205							77	71	73					19																	11453676		2203	4300	6503	SO:0001587	stop_gained	374882					integral to membrane		g.chr19:11453676C>A	AK127147	CCDS32909.1	19p13.2	2008-01-09				ENSG00000105518			29631	protein-coding gene	gene with protein product		613771				12975309	Standard	NM_198536		Approved	UNQ501, MBC3205	uc002mrb.2	Q6UW68		ENST00000354882.5:c.385G>T	19.37:g.11453676C>A	ENSP00000346954:p.Glu129*					TMEM205_ENST00000586218.1_Nonsense_Mutation_p.E68*|TMEM205_ENST00000593256.2_Nonsense_Mutation_p.E129*|TMEM205_ENST00000588560.1_Nonsense_Mutation_p.E129*|TMEM205_ENST00000586956.1_Nonsense_Mutation_p.E129*|TMEM205_ENST00000447337.1_Nonsense_Mutation_p.E129*|TMEM205_ENST00000587948.1_Nonsense_Mutation_p.E129*|TMEM205_ENST00000586590.1_Nonsense_Mutation_p.E129*|TMEM205_ENST00000589555.1_Nonsense_Mutation_p.E129*|RAB3D_ENST00000589655.1_Intron	p.E129*			Q6UW68	TM205_HUMAN			3	811	-			129						Nonsense_Mutation	SNP	ENST00000354882.5	37	c.385G>T	CCDS32909.1	.	.	.	.	.	.	.	.	.	.	C	30	5.057896	0.93846	.	.	ENSG00000105518	ENST00000354882;ENST00000447337	.	.	.	5.13	4.1	0.47936	.	0.147062	0.44902	U	0.000402	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.37606	T	0.19	-19.3641	12.8412	0.57805	0.0:0.9195:0.0:0.0805	.	.	.	.	X	129	.	ENSP00000346954:E129X	E	-	1	0	TMEM205	11314676	0.982000	0.34865	0.995000	0.50966	0.434000	0.31775	2.330000	0.43885	1.301000	0.44836	-0.136000	0.14681	GAG		0.647	TMEM205-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458743.1	NM_198536		4	135	1	0	0.150653	1	0.164777	4	135					A	11453676	C	A	11453676	4	1	49	1	0	0	0	0	0	1	0	0	16127	864	30	5	188	5	TMEM205	19	11453676	Nonsense_Mutation	SNP	C	TCGA-EJ-5499-01A-01D-1576-08		11453676	47675307	38	2664											
ZNF43	7594	broad.mit.edu	37	chr19	22001955	22001955	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcctatataaattctgctgTgcaatgtccaggcattgcca	10	14	7	10	0	1	0	0	0	1	0	3	0	3	0	3	1	3	3	3	1	5	6			TCGA-EJ-5499-01A-01D-1576-08	TCGA-EJ-5499-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eabee59a-01ca-476c-970c-72f69b24f6f1	f1ea82ad-41dd-4c0e-9328-73dd0548d125	g.chr19:22001955T>G	ENST00000354959.4	-	2	241	c.72A>C	c.(70-72)gcA>gcC	p.A24A	ZNF43_ENST00000595461.1_Silent_p.A18A|ZNF43_ENST00000598381.1_Silent_p.A18A|ZNF43_ENST00000594012.1_Silent_p.A18A|ZNF43_ENST00000598288.1_Silent_p.A18A	NM_003423.3	NP_003414.2	P17038	ZNF43_HUMAN	zinc finger protein 43	24	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.A24A(1)		autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2)	51		Renal(1328;0.000219)|Hepatocellular(1079;0.121)		GBM - Glioblastoma multiforme(1328;5.97e-05)|STAD - Stomach adenocarcinoma(1328;0.0127)		AATTCTGCTGTGCAATGTCCA	0.398																																						ENST00000594012.1																			1	Substitution - coding silent(1)	p.A24A(1)	prostate(1)	autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2)	51						c.(52-54)gcA>gcC		zinc finger protein 43							121	127	125					19																	22001955		2203	4300	6503	SO:0001819	synonymous_variant	7594				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:22001955T>G	X59244	CCDS12413.2, CCDS59367.1, CCDS74321.1	19p13.1-p12	2013-01-08	2006-05-11		ENSG00000198521	ENSG00000198521		"Zinc fingers, C2H2-type", "-"	13109	protein-coding gene	gene with protein product		603972	"zinc finger protein 39-like 1 (KOX 27)", "zinc finger protein 43 (HTF6)"	ZNF39L1		1711675	Standard	NM_001256649		Approved	HTF6, KOX27	uc031rka.1	P17038	OTTHUMG00000128543	ENST00000354959.4:c.72A>C	19.37:g.22001955T>G						ZNF43_ENST00000354959.4_Silent_p.A24A|ZNF43_ENST00000595461.1_Silent_p.A18A|ZNF43_ENST00000598288.1_Silent_p.A18A|ZNF43_ENST00000598381.1_Silent_p.A18A	p.A18A	NM_001256649.1|NM_001256651.1|NM_001256653.1|NM_001256654.1	NP_001243578.1|NP_001243580.1|NP_001243582.1|NP_001243583.1	P17038	ZNF43_HUMAN		GBM - Glioblastoma multiforme(1328;5.97e-05)|STAD - Stomach adenocarcinoma(1328;0.0127)	5	568	-		Renal(1328;0.000219)|Hepatocellular(1079;0.121)	24			KRAB.		A8K5N8|P28160|Q53XQ2|Q5H9T3|Q96DG1	Silent	SNP	ENST00000354959.4	37	c.54A>C	CCDS12413.2																																																																																				0.398	ZNF43-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250380.2	NM_003423		74	236	0	0	0	1	0	74	236					G	22001955	T	G	22001955	2	3	49	1	0	0	0	0	0	0	0	1	17900	1683	59	5		5	ZNF43	19	22001955	Silent	SNP	T	TCGA-EJ-5499-01A-01D-1576-08	10548279	22001955	37127028	39	2665											
CEACAM3	1084	broad.mit.edu	37	chr19	42301582	42301582	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctcactattgaatccatgccGctcagtgtcgcagaggggaa	10	9	11	11	2	2	2	2	1	0	1	4	3	3	3	2	2	1	2	2	2	3	2			TCGA-EJ-5499-01A-01D-1576-08	TCGA-EJ-5499-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eabee59a-01ca-476c-970c-72f69b24f6f1	f1ea82ad-41dd-4c0e-9328-73dd0548d125	g.chr19:42301582G>A	ENST00000357396.3	+	2	367	c.126G>A	c.(124-126)ccG>ccA	p.P42P	CEACAM3_ENST00000344550.4_Silent_p.P42P|CEACAM3_ENST00000221999.4_Silent_p.P42P|CEACAM3_ENST00000595255.1_3'UTR	NM_001815.2	NP_001806.2	P40198	CEAM3_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 3	42	Ig-like V-type.					integral component of membrane (GO:0016021)		p.P42P(1)		endometrium(2)|kidney(4)|large_intestine(1)|lung(4)|prostate(3)|skin(4)|stomach(1)	19						AATCCATGCCGCTCAGTGTCG	0.522																																						ENST00000357396.3																			1	Substitution - coding silent(1)	p.P42P(1)	prostate(1)	endometrium(2)|kidney(4)|large_intestine(1)|lung(4)|prostate(3)|skin(4)|stomach(1)	19						c.(124-126)ccG>ccA		carcinoembryonic antigen-related cell adhesion molecule 3							157	146	150					19																	42301582		2203	4300	6503	SO:0001819	synonymous_variant	1084					integral to membrane		g.chr19:42301582G>A	E03349	CCDS12586.2, CCDS62685.1	19q13.2	2013-01-11			ENSG00000170956	ENSG00000170956		"CD molecules", "Immunoglobulin superfamily / V-set domain containing"	1815	protein-coding gene	gene with protein product		609142		CGM1			Standard	NM_001815		Approved	CD66d	uc002orn.2	P40198	OTTHUMG00000150142	ENST00000357396.3:c.126G>A	19.37:g.42301582G>A						CEACAM3_ENST00000344550.4_Silent_p.P42P|CEACAM3_ENST00000221999.4_Silent_p.P42P|CEACAM3_ENST00000595255.1_3'UTR	p.P42P	NM_001815.2	NP_001806.2	P40198	CEAM3_HUMAN			2	367	+			42			Ig-like V-type.		G5E978|Q3KPH9	Silent	SNP	ENST00000357396.3	37	c.126G>A	CCDS12586.2																																																																																				0.522	CEACAM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316509.2	NM_001815		62	174	0	0	0	1	0	62	174					A	42301582	G	A	42301582	2	1	49	1	0	0	0	0	0	0	0	1	3193	1074	38	1		1	CEACAM3	19	42301582	Silent	SNP	G	TCGA-EJ-5499-01A-01D-1576-08	20299627	42301582	16827401	40	2666											
LILRA1	11024	broad.mit.edu	37	chr19	55106788	55106788	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agcccgagtcgcaggtggtcGtacaggtgctatgcttatga	8	10	14	9	3	0	1	0	1	0	0	2	2	0	1	1	3	4	4	1	3	3	3	rs112681015	byFrequency	TCGA-EJ-5499-01A-01D-1576-08	TCGA-EJ-5499-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eabee59a-01ca-476c-970c-72f69b24f6f1	f1ea82ad-41dd-4c0e-9328-73dd0548d125	g.chr19:55106788G>A	ENST00000251372.3	+	5	764	c.582G>A	c.(580-582)tcG>tcA	p.S194S	LILRB1_ENST00000418536.2_Intron|LILRA1_ENST00000473156.1_3'UTR|LILRB1_ENST00000448689.1_Intron|LILRA1_ENST00000453777.1_Silent_p.S194S|LILRB1_ENST00000396321.2_Intron	NM_006863.2	NP_006854.1	O75019	LIRA1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1	194	Ig-like C2-type 2.				cell surface receptor signaling pathway (GO:0007166)|defense response (GO:0006952)|immune system process (GO:0002376)|regulation of immune response (GO:0050776)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)|transmembrane signaling receptor activity (GO:0004888)	p.S194S(1)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	47				GBM - Glioblastoma multiforme(193;0.0348)		GCAGGTGGTCGTACAGGTGCT	0.572																																						ENST00000453777.1																			1	Substitution - coding silent(1)	p.S194S(1)	prostate(1)	breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	47						c.(580-582)tcG>tcA		leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1		G		4,4402	8.1+/-20.4	0,4,2199	161	164	163		582	-4.5	0	19	dbSNP_132	163	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	LILRA1	NM_006863.1		0,6,6497	AA,AG,GG		0.0233,0.0908,0.0461		194/490	55106788	6,13000	2203	4300	6503	SO:0001819	synonymous_variant	11024				cell surface receptor linked signaling pathway|defense response|regulation of immune response	integral to membrane|plasma membrane	antigen binding|transmembrane receptor activity	g.chr19:55106788G>A	AF025530	CCDS12901.1, CCDS62802.1	19q13.4	2013-01-11			ENSG00000104974	ENSG00000104974		"Leukocyte immunoglobulin-like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6602	protein-coding gene	gene with protein product		604810				9548455	Standard	NM_006863		Approved	LIR-6, CD85i, LIR6	uc002qgh.2	O75019	OTTHUMG00000065701	ENST00000251372.3:c.582G>A	19.37:g.55106788G>A						LILRA1_ENST00000251372.3_Silent_p.S194S|LILRA1_ENST00000473156.1_3'UTR|LILRB1_ENST00000448689.1_Intron|LILRB1_ENST00000396321.2_Intron|LILRB1_ENST00000418536.2_Intron	p.S194S	NM_001278318.1	NP_001265247.1	O75019	LIRA1_HUMAN		GBM - Glioblastoma multiforme(193;0.0348)	5	752	+			194			Ig-like C2-type 2.		O75018|Q3MJA6	Silent	SNP	ENST00000251372.3	37	c.582G>A	CCDS12901.1																																																																																				0.572	LILRA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000140807.2	NM_006863		52	186	0	0	0	1	0	52	186					A	55106788	G	A	55106788	2	1	49	1	0	0	0	0	0	0	0	1	8784	1132	40	1		1	LILRA1	19	55106788	Silent	SNP	G	TCGA-EJ-5499-01A-01D-1576-08	12805206	55106788	4022195	41	2667											
A1BG	1	broad.mit.edu	37	chr19	58862934	58862934	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcagctctttctccccgcGccgtagctggaagtccactc	6	9	9	17	3	2	0	0	0	2	0	5	1	3	1	4	1	3	4	4	1	2	2	rs184830744		TCGA-EJ-5499-01A-01D-1576-08	TCGA-EJ-5499-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eabee59a-01ca-476c-970c-72f69b24f6f1	f1ea82ad-41dd-4c0e-9328-73dd0548d125	g.chr19:58862934G>A	ENST00000263100.3	-	5	794	c.733C>T	c.(733-735)Cgc>Tgc	p.R245C	CTD-2619J13.8_ENST00000599109.1_RNA|A1BG-AS1_ENST00000595302.1_RNA|A1BG-AS1_ENST00000599728.1_RNA|A1BG-AS1_ENST00000593374.1_RNA|A1BG-AS1_ENST00000593960.1_RNA|A1BG-AS1_ENST00000594950.1_RNA|A1BG-AS1_ENST00000600379.1_RNA|A1BG-AS1_ENST00000600686.1_RNA	NM_130786.3	NP_570602.2	P04217	A1BG_HUMAN	alpha-1-B glycoprotein	245	Ig-like V-type 3.					blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)		p.R245C(1)		NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|prostate(2)	15		all_cancers(17;3.04e-16)|all_epithelial(17;7.77e-12)|Lung NSC(17;3.25e-05)|Colorectal(82;5.46e-05)|all_lung(17;0.000129)|all_neural(62;0.0182)|Ovarian(87;0.0443)|Breast(46;0.0889)|Renal(17;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0269)		TTCTCCCCGCGCCGTAGCTGG	0.627													G|||	1	0.000199681	0	0	5008	,	,		16495	0.001		0	False		,,,				2504	0					ENST00000263100.3																			1	Substitution - Missense(1)	p.R245C(1)	prostate(1)	NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|prostate(2)	15						c.(733-735)Cgc>Tgc		alpha-1-B glycoprotein							68	54	58					19																	58862934		2203	4300	6503	SO:0001583	missense	1					extracellular region		g.chr19:58862934G>A		CCDS12976.1	19q13.43	2013-10-15			ENSG00000121410	ENSG00000121410		"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5	protein-coding gene	gene with protein product		138670				2591067	Standard	NM_130786		Approved		uc002qsd.4	P04217	OTTHUMG00000183507	ENST00000263100.3:c.733C>T	19.37:g.58862934G>A	ENSP00000263100:p.Arg245Cys					A1BG-AS1_ENST00000593374.1_RNA|A1BG-AS1_ENST00000593960.1_RNA|A1BG-AS1_ENST00000600686.1_RNA|A1BG-AS1_ENST00000600379.1_RNA|A1BG-AS1_ENST00000599728.1_RNA|CTD-2619J13.8_ENST00000599109.1_RNA|A1BG-AS1_ENST00000594950.1_RNA	p.R245C	NM_130786.3	NP_570602.2	P04217	A1BG_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0269)	5	794	-		all_cancers(17;3.04e-16)|all_epithelial(17;7.77e-12)|Lung NSC(17;3.25e-05)|Colorectal(82;5.46e-05)|all_lung(17;0.000129)|all_neural(62;0.0182)|Ovarian(87;0.0443)|Breast(46;0.0889)|Renal(17;0.157)	245			Ig-like V-type 3.		A8K052|Q68CK0|Q8IYJ6|Q96P39	Missense_Mutation	SNP	ENST00000263100.3	37	c.733C>T	CCDS12976.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	15.39	2.818260	0.50633	.	.	ENSG00000121410	ENST00000263100;ENST00000453054	T	0.13778	2.56	4.08	1.61	0.23674	Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.981160	0.08300	N	0.967061	T	0.34542	0.0901	M	0.71036	2.16	0.09310	N	1	D	0.89917	1.0	D	0.65874	0.939	T	0.18524	-1.0334	10	0.87932	D	0	.	11.514	0.50509	0.0:0.3465:0.6535:0.0	.	245	P04217	A1BG_HUMAN	C	245;123	ENSP00000263100:R245C	ENSP00000263100:R245C	R	-	1	0	A1BG	63554746	0.000000	0.05858	0.019000	0.16419	0.029000	0.11900	-0.154000	0.10130	0.976000	0.38417	0.462000	0.41574	CGC		0.627	A1BG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466930.1	NM_130786		10	47	0	0	0	1	0	10	47					A	58862934	G	A	58862934	3	1	49	1	0	0	0	0	1	0	0	0	1	1087	38	1	770	1	A1BG	19	58862934	Missense_Mutation	SNP	G	TCGA-EJ-5499-01A-01D-1576-08	3756146	58862934	266049	42	2668											
DGCR14	8220	broad.mit.edu	37	chr22	19121828	19121828	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	aggcgccggtgtgcttgtggGggtctgcagcccactggccg	3	8	18	12	3	1	0	0	0	1	0	1	0	1	0	3	5	3	2	3	5	0	1			TCGA-EJ-5499-01A-01D-1576-08	TCGA-EJ-5499-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eabee59a-01ca-476c-970c-72f69b24f6f1	f1ea82ad-41dd-4c0e-9328-73dd0548d125	g.chr22:19121828G>A	ENST00000252137.6	-	10	1355	c.1312C>T	c.(1312-1314)Ccc>Tcc	p.P438S		NM_022719.2	NP_073210.1	Q96DF8	DGC14_HUMAN	DiGeorge syndrome critical region gene 14	438					mRNA splicing, via spliceosome (GO:0000398)|nervous system development (GO:0007399)	catalytic step 2 spliceosome (GO:0071013)|nucleus (GO:0005634)		p.P438S(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)	16	Colorectal(54;0.0993)					GTGCTTGTGGGGGTCTGCAGC	0.692																																						ENST00000252137.6																			1	Substitution - Missense(1)	p.P438S(1)	prostate(1)	breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)	16						c.(1312-1314)Ccc>Tcc		DiGeorge syndrome critical region gene 14							66	60	62					22																	19121828		2203	4299	6502	SO:0001583	missense	8220				nervous system development	catalytic step 2 spliceosome		g.chr22:19121828G>A	L77566	CCDS13756.1	22q11.21	2007-02-20			ENSG00000100056	ENSG00000100056			16817	protein-coding gene	gene with protein product		601755	"DiGeorge syndrome critical region gene 13"	DGCR13		8776594, 9063747	Standard	NM_022719		Approved	DGSI, Es2el, ES2, DGS-H	uc002zou.3	Q96DF8	OTTHUMG00000150119	ENST00000252137.6:c.1312C>T	22.37:g.19121828G>A	ENSP00000252137:p.Pro438Ser						p.P438S	NM_022719.2	NP_073210.1	Q96DF8	DGC14_HUMAN			10	1355	-	Colorectal(54;0.0993)		438					Q49AH7|Q9BTZ4	Missense_Mutation	SNP	ENST00000252137.6	37	c.1312C>T	CCDS13756.1	.	.	.	.	.	.	.	.	.	.	G	24.8	4.566493	0.86439	.	.	ENSG00000100056	ENST00000252137	T	0.27557	1.66	4.57	4.57	0.56435	.	0.056535	0.64402	D	0.000001	T	0.45175	0.1329	L	0.41236	1.265	0.80722	D	1	D	0.89917	1.0	D	0.66716	0.946	T	0.23154	-1.0196	10	0.33141	T	0.24	-20.9474	17.1501	0.86775	0.0:0.0:1.0:0.0	.	438	Q96DF8	DGC14_HUMAN	S	438	ENSP00000252137:P438S	ENSP00000252137:P438S	P	-	1	0	DGCR14	17501828	1.000000	0.71417	0.997000	0.53966	0.954000	0.61252	9.257000	0.95545	2.374000	0.81015	0.591000	0.81541	CCC		0.692	DGCR14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316432.2			16	35	0	0	0	1	0	16	35					A	19121828	G	A	19121828	3	1	49	1	0	0	0	0	1	0	0	0	4460	1232	43	3	122	3	DGCR14	22	19121828	Missense_Mutation	SNP	G	TCGA-EJ-5499-01A-01D-1576-08		19121828	32182738	43	2669											
CSF2RA	1438	broad.mit.edu	37	chrX	1407464	1407464	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgaaatttgtctgcatgaagGagtcacatttgaggttcacg	11	13	11	6	1	3	3	2	3	1	0	3	4	3	4	0	2	1	2	0	2	2	3			TCGA-EJ-5499-01A-01D-1576-08	TCGA-EJ-5499-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eabee59a-01ca-476c-970c-72f69b24f6f1	f1ea82ad-41dd-4c0e-9328-73dd0548d125	g.chrX:1407464G>T	ENST00000381524.3	+	5	458	c.272G>T	c.(271-273)gGa>gTa	p.G91V	CSF2RA_ENST00000417535.2_Missense_Mutation_p.G91V|CSF2RA_ENST00000432318.2_Missense_Mutation_p.G91V|CSF2RA_ENST00000381529.3_Missense_Mutation_p.G91V|CSF2RA_ENST00000381509.3_Missense_Mutation_p.G91V|CSF2RA_ENST00000355805.2_Missense_Mutation_p.G91V|CSF2RA_ENST00000361536.3_Missense_Mutation_p.G91V|CSF2RA_ENST00000355432.3_Missense_Mutation_p.G91V|CSF2RA_ENST00000494969.2_Intron|CSF2RA_ENST00000501036.2_5'UTR|CSF2RA_ENST00000381500.1_Missense_Mutation_p.G91V			P15509	CSF2R_HUMAN	colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage)	91					response to ethanol (GO:0045471)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cytokine receptor activity (GO:0004896)|receptor activity (GO:0004872)	p.G91V(2)		central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(6)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	45		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Sargramostim(DB00020)	CTGCATGAAGGAGTCACATTT	0.418																																					Esophageal Squamous(131;723 1707 25334 40494 41806)	ENST00000381524.3																			2	Substitution - Missense(2)	p.G91V(2)	prostate(2)	central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(6)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	45						c.(271-273)gGa>gTa		colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage)	Sargramostim(DB00020)						370	341	351					X																	1407464		2203	4296	6499	SO:0001583	missense	0					extracellular region|integral to plasma membrane	cytokine receptor activity	g.chrX:1407464G>T	M64445	CCDS35190.1, CCDS35191.1, CCDS35192.1, CCDS35193.1, CCDS55359.1, CCDS55360.1, CCDS55361.1	Xp22.32 and Yp11.3	2014-09-17			ENSG00000198223	ENSG00000198223		"CD molecules", "Pseudoautosomal regions / PAR1"	2435	protein-coding gene	gene with protein product		306250, 425000		CSF2R		1702217	Standard	NM_006140		Approved	CD116	uc010ncv.2	P15509	OTTHUMG00000012533	ENST00000381524.3:c.272G>T	X.37:g.1407464G>T	ENSP00000370935:p.Gly91Val					CSF2RA_ENST00000432318.2_Missense_Mutation_p.G91V|CSF2RA_ENST00000361536.3_Missense_Mutation_p.G91V|CSF2RA_ENST00000417535.2_Missense_Mutation_p.G91V|CSF2RA_ENST00000355805.2_Missense_Mutation_p.G91V|CSF2RA_ENST00000355432.3_Missense_Mutation_p.G91V|CSF2RA_ENST00000381500.1_Missense_Mutation_p.G91V|CSF2RA_ENST00000501036.2_5'UTR|CSF2RA_ENST00000381529.3_Missense_Mutation_p.G91V|CSF2RA_ENST00000381509.3_Missense_Mutation_p.G91V	p.G91V			P15509	CSF2R_HUMAN			5	458	+		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)	91					A7J003|A8KAM1|B4DW68|J3JS76|J3JS77|O00207|Q14429|Q14430|Q14431|Q16564	Missense_Mutation	SNP	ENST00000381524.3	37	c.272G>T	CCDS35191.1	.	.	.	.	.	.	.	.	.	.	.	10.80	1.452332	0.26074	.	.	ENSG00000198223	ENST00000381529;ENST00000432318;ENST00000361536;ENST00000381507;ENST00000381524;ENST00000412290;ENST00000419094;ENST00000381509;ENST00000355805;ENST00000355432;ENST00000417535;ENST00000381500	D;D;D;D;T;T;D;T;T;D;D	0.94457	-3.15;-3.15;-3.43;-3.15;0.87;1.81;-3.17;0.8;1.12;-3.0;-3.43	1.47	1.47	0.22746	.	0.163612	0.24676	U	0.036512	D	0.95274	0.8467	.	.	.	0.19575	N	0.999963	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.91635	0.999;0.997;0.998;0.985;0.997;0.995	D	0.87460	0.2407	9	0.36615	T	0.2	.	6.16	0.20358	0.0:0.0:1.0:0.0	.	91;91;91;91;91;91	P15509-2;A7J003;P15509-3;P15509-6;P15509-5;P15509	.;.;.;.;.;CSF2R_HUMAN	V	91	ENSP00000370940:G91V;ENSP00000416437:G91V;ENSP00000354836:G91V;ENSP00000370935:G91V;ENSP00000410667:G91V;ENSP00000397452:G91V;ENSP00000370920:G91V;ENSP00000348058:G91V;ENSP00000347606:G91V;ENSP00000394227:G91V;ENSP00000370911:G91V	ENSP00000347606:G91V	G	+	2	0	CSF2RA	1367464	0.022000	0.18835	0.020000	0.16555	0.008000	0.06430	1.488000	0.35551	0.765000	0.33221	0.358000	0.22013	GGA		0.418	CSF2RA-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000035013.2			146	521	1	0	3.67666e-70	1	4.59582e-70	146	521					T	1407464	G	T	1407464	3	4	49	1	0	0	0	0	1	0	0	0	3934	1174	41	5	282	5	CSF2RA	23	1407464	Missense_Mutation	SNP	G	TCGA-EJ-5499-01A-01D-1576-08		1407464	153863096	44	2670											
SHROOM4	57477	broad.mit.edu	37	chrX	50378349	50378349	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggtggcccccattggtgcGccgactacctcctgaggtct	5	9	12	15	2	1	1	0	1	1	0	2	2	2	1	5	4	2	0	5	4	1	2			TCGA-EJ-5499-01A-01D-1576-08	TCGA-EJ-5499-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eabee59a-01ca-476c-970c-72f69b24f6f1	f1ea82ad-41dd-4c0e-9328-73dd0548d125	g.chrX:50378349G>A	ENST00000289292.7	-	4	1007	c.724C>T	c.(724-726)Cgc>Tgc	p.R242C	SHROOM4_ENST00000376020.2_Missense_Mutation_p.R242C|SHROOM4_ENST00000460112.3_Missense_Mutation_p.R126C			Q9ULL8	SHRM4_HUMAN	shroom family member 4	242					actin cytoskeleton organization (GO:0030036)|actin filament organization (GO:0007015)|brain development (GO:0007420)|cognition (GO:0050890)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|myosin II complex (GO:0016460)|stress fiber (GO:0001725)	actin filament binding (GO:0051015)	p.R242C(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	52	Ovarian(276;0.236)					CCATTGGTGCGCCGACTACCT	0.637													G|||	1	0.000264901	0	0	3775	,	,		13342	0		0.001	False		,,,				2504	0					ENST00000376020.2																			1	Substitution - Missense(1)	p.R242C(1)	prostate(1)	breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	52						c.(724-726)Cgc>Tgc		shroom family member 4							16	14	15					X																	50378349		2200	4294	6494	SO:0001583	missense	57477				actin filament organization|brain development|cell morphogenesis|cognition	apical plasma membrane|basal plasma membrane|internal side of plasma membrane|nucleus	actin filament binding	g.chrX:50378349G>A	AB033028	CCDS35277.1	Xp11.22	2008-02-05			ENSG00000158352	ENSG00000158352			29215	protein-coding gene	gene with protein product		300579				10574462, 16615870	Standard	NR_027121		Approved	KIAA1202	uc004dpe.2	Q9ULL8	OTTHUMG00000021521	ENST00000289292.7:c.724C>T	X.37:g.50378349G>A	ENSP00000289292:p.Arg242Cys					SHROOM4_ENST00000289292.7_Missense_Mutation_p.R242C|SHROOM4_ENST00000460112.3_Missense_Mutation_p.R126C	p.R242C	NM_020717.3	NP_065768.2	Q9ULL8	SHRM4_HUMAN			4	749	-	Ovarian(276;0.236)		242					A7E2X9|D6RFW0|Q96LA0	Missense_Mutation	SNP	ENST00000289292.7	37	c.724C>T	CCDS35277.1	.	.	.	.	.	.	.	.	.	.	G	2.482	-0.319468	0.05386	.	.	ENSG00000158352	ENST00000289292;ENST00000376020;ENST00000460112	T;T;T	0.14893	2.84;2.84;2.47	6.07	3.11	0.35812	.	1.051720	0.07304	N	0.874622	T	0.13286	0.0322	L	0.29908	0.895	0.09310	N	1	B	0.14438	0.01	B	0.04013	0.001	T	0.30357	-0.9981	10	0.54805	T	0.06	.	5.4366	0.16484	0.0789:0.1228:0.565:0.2333	.	242	Q9ULL8	SHRM4_HUMAN	C	242;242;126	ENSP00000289292:R242C;ENSP00000365188:R242C;ENSP00000421450:R126C	ENSP00000289292:R242C	R	-	1	0	SHROOM4	50395089	0.007000	0.16637	0.003000	0.11579	0.512000	0.34134	1.544000	0.36158	0.653000	0.30826	0.600000	0.82982	CGC		0.637	SHROOM4-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056564.4	NM_020717		3	9	0	0	0	1	0	3	9					A	50378349	G	A	50378349	3	1	49	1	0	0	0	0	1	0	0	0	14296	1087	38	1	3781	1	SHROOM4	23	50378349	Missense_Mutation	SNP	G	TCGA-EJ-5499-01A-01D-1576-08	48970885	50378349	104892211	45	2671											
BRWD3	254065	broad.mit.edu	37	chrX	79942411	79942411	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaatggctccgagtcttcaCgttcataaatgaggctcaat	12	11	9	9	2	4	1	3	1	1	0	5	3	5	1	1	2	0	3	1	2	4	3			TCGA-EJ-5499-01A-01D-1576-08	TCGA-EJ-5499-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eabee59a-01ca-476c-970c-72f69b24f6f1	f1ea82ad-41dd-4c0e-9328-73dd0548d125	g.chrX:79942411C>A	ENST00000373275.4	-	35	4172	c.3956G>T	c.(3955-3957)cGt>cTt	p.R1319L	BRWD3_ENST00000473691.1_5'UTR	NM_153252.4	NP_694984	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	1319	Bromo 2. {ECO:0000255|PROSITE- ProRule:PRU00035}.				cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)					breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						CGAGTCTTCACGTTCATAAAT	0.383																																						ENST00000373275.4																			0				breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						c.(3955-3957)cGt>cTt		bromodomain and WD repeat domain containing 3							164	144	151					X																	79942411		2203	4300	6503	SO:0001583	missense	254065							g.chrX:79942411C>A		CCDS14447.1	Xq21.1	2013-01-09			ENSG00000165288	ENSG00000165288		"WD repeat domain containing"	17342	protein-coding gene	gene with protein product		300553				15543602, 16094372	Standard	NM_153252		Approved	FLJ38568, MRX93	uc004edt.3	Q6RI45	OTTHUMG00000021908	ENST00000373275.4:c.3956G>T	X.37:g.79942411C>A	ENSP00000362372:p.Arg1319Leu					BRWD3_ENST00000473691.1_5'UTR	p.R1319L	NM_153252.4	NP_694984.4	Q6RI45	BRWD3_HUMAN			35	4172	-			1319			Bromo 2.		C9IZ39|C9J3F3|Q2T9J6|Q5JRN1|Q6RI37|Q6RI42|Q6RI44|Q8N916	Missense_Mutation	SNP	ENST00000373275.4	37	c.3956G>T	CCDS14447.1	.	.	.	.	.	.	.	.	.	.	C	14.84	2.655657	0.47467	.	.	ENSG00000165288	ENST00000373275	T	0.17054	2.3	4.53	4.53	0.55603	Bromodomain (4);	0.181713	0.46758	D	0.000263	T	0.13072	0.0317	N	0.25890	0.77	0.44345	D	0.997232	P	0.38565	0.637	B	0.35607	0.206	T	0.11717	-1.0576	9	.	.	.	-10.8165	16.4872	0.84188	0.0:1.0:0.0:0.0	.	1319	Q6RI45	BRWD3_HUMAN	L	1319	ENSP00000362372:R1319L	.	R	-	2	0	BRWD3	79829067	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	4.464000	0.60134	2.062000	0.61559	0.415000	0.27848	CGT		0.383	BRWD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057344.1	NM_153252		3	105	1	0	1	1	1	3	105					A	79942411	C	A	79942411	3	1	49	1	0	0	0	0	1	0	0	0	1526	536	19	5	1480	5	BRWD3	23	79942411	Missense_Mutation	SNP	C	TCGA-EJ-5499-01A-01D-1576-08	29564062	79942411	75328149	46	2672											
TBC1D8B	54885	broad.mit.edu	37	chrX	106064139	106064139	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aagaaataaccaagcattggGattggttggaacaaaatatt	18	10	9	4	0	0	1	0	0	0	1	0	3	0	3	1	3	3	2	1	3	8	6			TCGA-EJ-5499-01A-01D-1576-08	TCGA-EJ-5499-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eabee59a-01ca-476c-970c-72f69b24f6f1	f1ea82ad-41dd-4c0e-9328-73dd0548d125	g.chrX:106064139G>T	ENST00000357242.5	+	3	448	c.274G>T	c.(274-276)Gat>Tat	p.D92Y	TBC1D8B_ENST00000276175.3_Missense_Mutation_p.D92Y|TBC1D8B_ENST00000310452.2_Missense_Mutation_p.D92Y|TBC1D8B_ENST00000481617.2_Missense_Mutation_p.D92Y	NM_017752.2	NP_060222.2	Q0IIM8	TBC8B_HUMAN	TBC1 domain family, member 8B (with GRAM domain)	92							calcium ion binding (GO:0005509)|Rab GTPase activator activity (GO:0005097)	p.D92Y(1)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|liver(4)|lung(15)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						CAAGCATTGGGATTGGTTGGA	0.308																																						ENST00000357242.5																			1	Substitution - Missense(1)	p.D92Y(1)	prostate(1)	NS(2)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|liver(4)|lung(15)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						c.(274-276)Gat>Tat		TBC1 domain family, member 8B (with GRAM domain)							66	62	63					X																	106064139		2202	4299	6501	SO:0001583	missense	54885					intracellular	calcium ion binding|Rab GTPase activator activity	g.chrX:106064139G>T	AK123957	CCDS14522.1, CCDS14523.1	Xq22.3	2013-01-10			ENSG00000133138	ENSG00000133138		"EF-hand domain containing"	24715	protein-coding gene	gene with protein product						8889548	Standard	NM_017752		Approved	FLJ20298, RP11-321G1.1	uc004emo.3	Q0IIM8	OTTHUMG00000022152	ENST00000357242.5:c.274G>T	X.37:g.106064139G>T	ENSP00000349781:p.Asp92Tyr					TBC1D8B_ENST00000481617.2_Missense_Mutation_p.D92Y|TBC1D8B_ENST00000276175.3_Missense_Mutation_p.D92Y|TBC1D8B_ENST00000310452.2_Missense_Mutation_p.D92Y	p.D92Y	NM_017752.2	NP_060222.2	Q0IIM8	TBC8B_HUMAN			3	448	+			92					B9A6K5|B9A6K6|Q5JRB7|Q6ZVX5|Q9NXE3	Missense_Mutation	SNP	ENST00000357242.5	37	c.274G>T	CCDS14522.1	.	.	.	.	.	.	.	.	.	.	G	24.7	4.565225	0.86439	.	.	ENSG00000133138	ENST00000357242;ENST00000310452;ENST00000481617;ENST00000276175	T;T;T;T	0.21932	1.98;1.98;1.98;1.98	5.14	5.14	0.70334	.	0.204155	0.42821	D	0.000660	T	0.41858	0.1177	L	0.61218	1.895	0.80722	D	1	P;D;D	0.71674	0.834;0.983;0.998	P;P;P	0.61275	0.621;0.886;0.87	T	0.34675	-0.9819	10	0.87932	D	0	-4.2339	16.4042	0.83652	0.0:0.0:1.0:0.0	.	92;92;92	Q0IIM8;B9A6K6;D6RFZ2	TBC8B_HUMAN;.;.	Y	92	ENSP00000349781:D92Y;ENSP00000310675:D92Y;ENSP00000421375:D92Y;ENSP00000276175:D92Y	ENSP00000276175:D92Y	D	+	1	0	TBC1D8B	105950795	1.000000	0.71417	1.000000	0.80357	0.917000	0.54804	6.716000	0.74702	2.266000	0.75297	0.415000	0.27848	GAT		0.308	TBC1D8B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057807.2	NM_017752		48	55	1	0	8.86878e-18	1	1.07037e-17	48	55					T	106064139	G	T	106064139	3	4	49	1	0	0	0	0	1	0	0	0	15623	1174	41	5	284	5	TBC1D8B	23	106064139	Missense_Mutation	SNP	G	TCGA-EJ-5499-01A-01D-1576-08	26121728	106064139	49206421	47	2673											
NBPF3	84224	broad.mit.edu	37	chr1	21808232	21808232	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcttttactcattggaggaaGaacacgttggcttttctctt	8	16	9	8	1	2	1	1	0	1	1	3	3	2	3	0	3	2	3	0	3	3	7			TCGA-EJ-5501-01A-01D-1576-08	TCGA-EJ-5501-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fab0baa4-2ef4-46d7-a5c1-33592870967f	d259fcfd-635d-4ba9-9b74-ba6a211a00c5	g.chr1:21808232G>A	ENST00000318249.5	+	13	1926	c.1576G>A	c.(1576-1578)Gaa>Aaa	p.E526K	NBPF3_ENST00000454000.2_Missense_Mutation_p.E456K|NBPF3_ENST00000342104.5_Missense_Mutation_p.E514K|NBPF3_ENST00000318220.6_Missense_Mutation_p.E470K	NM_032264.3	NP_115640.1	Q9H094	NBPF3_HUMAN	neuroblastoma breakpoint family, member 3	526	NBPF 4. {ECO:0000255|PROSITE- ProRule:PRU00647}.					cytoplasm (GO:0005737)		p.E526K(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	20		all_lung(284;2.16e-05)|Lung NSC(340;2.19e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|OV - Ovarian serous cystadenocarcinoma(117;7.53e-27)|COAD - Colon adenocarcinoma(152;1.18e-05)|GBM - Glioblastoma multiforme(114;3.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000143)|STAD - Stomach adenocarcinoma(196;0.00306)|KIRC - Kidney renal clear cell carcinoma(1967;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		ATTGGAGGAAGAACACGTTGG	0.458																																						ENST00000318220.6																			1	Substitution - Missense(1)	p.E526K(1)	prostate(1)	breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	20						c.(1408-1410)Gaa>Aaa		neuroblastoma breakpoint family, member 3							37	31	33					1																	21808232		2188	4283	6471	SO:0001583	missense	84224					cytoplasm		g.chr1:21808232G>A	BC024011	CCDS216.1, CCDS57976.1, CCDS57977.1	1p36.12	2013-01-17			ENSG00000142794	ENSG00000142794		"neuroblastoma breakpoint family"	25076	protein-coding gene	gene with protein product		612992				11230166, 16079250	Standard	NM_032264		Approved	AE2	uc001ber.4	Q9H094	OTTHUMG00000002944	ENST00000318249.5:c.1576G>A	1.37:g.21808232G>A	ENSP00000316782:p.Glu526Lys					NBPF3_ENST00000454000.2_Missense_Mutation_p.E456K|NBPF3_ENST00000342104.5_Missense_Mutation_p.E514K|NBPF3_ENST00000318249.5_Missense_Mutation_p.E526K	p.E470K			Q9H094	NBPF3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|OV - Ovarian serous cystadenocarcinoma(117;7.53e-27)|COAD - Colon adenocarcinoma(152;1.18e-05)|GBM - Glioblastoma multiforme(114;3.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000143)|STAD - Stomach adenocarcinoma(196;0.00306)|KIRC - Kidney renal clear cell carcinoma(1967;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)	16	2456	+		all_lung(284;2.16e-05)|Lung NSC(340;2.19e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)	526			NBPF 4.|Poly-Glu.		A8K965|B4DSP2|I3L0I8|Q3BBW1|Q5VTG2|Q5VTG3|Q5VTG4|Q8IX78|Q8ND86|Q8TC96	Missense_Mutation	SNP	ENST00000318249.5	37	c.1408G>A	CCDS216.1	.	.	.	.	.	.	.	.	.	.	.	0.018	-1.468345	0.01053	.	.	ENSG00000142794	ENST00000454000;ENST00000318220;ENST00000318249;ENST00000342104;ENST00000434838	T;T;T;T;T	0.05925	3.37;3.37;3.37;3.37;3.37	0.583	-1.17	0.09648	DUF1220 (2);	.	.	.	.	T	0.03053	0.0090	N	0.22421	0.69	0.09310	N	1	B;B;B	0.28128	0.011;0.201;0.0	B;B;B	0.18561	0.022;0.021;0.001	T	0.40813	-0.9543	8	0.25751	T	0.34	.	.	.	.	.	456;514;526	B4DSP2;Q9H094-3;Q9H094	.;.;NBPF3_HUMAN	K	456;470;526;514;470	ENSP00000415711:E456K;ENSP00000316739:E470K;ENSP00000316782:E526K;ENSP00000340336:E514K;ENSP00000391865:E470K	ENSP00000316739:E470K	E	+	1	0	NBPF3	21680819	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-3.194000	0.00563	-2.688000	0.00405	-2.368000	0.00236	GAA		0.458	NBPF3-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_032264		16	39	0	0	0	1	0	16	39					A	21808232	G	A	21808232	3	1	50	1	0	0	0	0	1	0	0	0	10197	943	33	3	1622	3	NBPF3	1	21808232	Missense_Mutation	SNP	G	TCGA-EJ-5501-01A-01D-1576-08		21808232	227442389	1	2674											
DNMT3A	1788	broad.mit.edu	37	chr2	25467186	25467186	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cccggccccaccaagaggtcCacacactccacgcaaaagca	13	2	7	19	2	0	1	0	0	0	1	2	1	2	1	6	2	1	2	6	2	3	0			TCGA-EJ-5501-01A-01D-1576-08	TCGA-EJ-5501-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fab0baa4-2ef4-46d7-a5c1-33592870967f	d259fcfd-635d-4ba9-9b74-ba6a211a00c5	g.chr2:25467186C>T	ENST00000264709.3	-	15	2026	c.1689G>A	c.(1687-1689)gtG>gtA	p.V563V	DNMT3A_ENST00000474887.1_5'UTR|DNMT3A_ENST00000402667.1_Silent_p.V340V|DNMT3A_ENST00000380746.4_Silent_p.V374V|DNMT3A_ENST00000321117.5_Silent_p.V563V	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN	DNA (cytosine-5-)-methyltransferase 3 alpha	563	ADD. {ECO:0000255|PROSITE- ProRule:PRU00865}.|Interaction with the PRC2/EED-EZH2 complex. {ECO:0000250}.				C-5 methylation of cytosine (GO:0090116)|cellular response to amino acid stimulus (GO:0071230)|DNA methylation (GO:0006306)|DNA methylation involved in embryo development (GO:0043045)|DNA methylation involved in gamete generation (GO:0043046)|DNA methylation on cytosine within a CG sequence (GO:0010424)|hypermethylation of CpG island (GO:0044027)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of gene expression by genetic imprinting (GO:0006349)|S-adenosylhomocysteine metabolic process (GO:0046498)|S-adenosylmethioninamine metabolic process (GO:0046499)|spermatogenesis (GO:0007283)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|euchromatin (GO:0000791)|nuclear heterochromatin (GO:0005720)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA (cytosine-5-)-methyltransferase activity, acting on CpG substrates (GO:0051718)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|unmethylated CpG binding (GO:0045322)	p.V563V(1)|p.V374V(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCAAGAGGTCCACACACTCCA	0.627			"Mis, F, N, S"		AML																																	ENST00000264709.3				Rec	yes		2	2p23	1788	"Mis, F, N, S"	DNA (cytosine-5-)-methyltransferase 3 alpha			L			AML		2	Substitution - coding silent(2)	p.V563V(1)|p.V374V(1)	prostate(2)	breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021						c.(1687-1689)gtG>gtA		DNA (cytosine-5-)-methyltransferase 3 alpha							15	18	17					2																	25467186		2203	4297	6500	SO:0001819	synonymous_variant	1788				regulation of gene expression by genetic imprinting	cytoplasm|euchromatin|nuclear matrix	DNA (cytosine-5-)-methyltransferase activity|DNA binding|metal ion binding|protein binding	g.chr2:25467186C>T		CCDS1718.2, CCDS33157.1, CCDS46232.1	2p23	2014-09-17			ENSG00000119772	ENSG00000119772			2978	protein-coding gene	gene with protein product		602769				9662389, 10433969	Standard	NM_175630		Approved		uc002rgc.4	Q9Y6K1	OTTHUMG00000094777	ENST00000264709.3:c.1689G>A	2.37:g.25467186C>T						DNMT3A_ENST00000380746.4_Silent_p.V374V|DNMT3A_ENST00000402667.1_Silent_p.V340V|DNMT3A_ENST00000474887.1_5'UTR|DNMT3A_ENST00000321117.5_Silent_p.V563V	p.V563V	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN			15	2026	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		563			ADD.|Interaction with the PRC2/EED-EZH2 complex (By similarity).		E9PEB8|Q86TE8|Q86XF5|Q8IZV0|Q8WXU9	Silent	SNP	ENST00000264709.3	37	c.1689G>A	CCDS33157.1																																																																																				0.627	DNMT3A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000211587.1	NM_022552		8	27	0	0	0	1	0	8	27					T	25467186	C	T	25467186	2	4	50	1	0	0	0	0	0	0	0	1	4676	581	21	3		3	DNMT3A	2	25467186	Silent	SNP	C	TCGA-EJ-5501-01A-01D-1576-08		25467186	217732187	2	2675											
CD8A	925	broad.mit.edu	37	chr2	87015654	87015654	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gagttcaaaagagactcaccGgggacatttgcaaacacgtc	14	7	10	10	2	2	1	2	0	0	1	3	4	2	2	1	2	2	2	1	2	3	2			TCGA-EJ-5501-01A-01D-1576-08	TCGA-EJ-5501-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fab0baa4-2ef4-46d7-a5c1-33592870967f	d259fcfd-635d-4ba9-9b74-ba6a211a00c5	g.chr2:87015654G>A	ENST00000409511.2	-	8	1685	c.655C>T	c.(655-657)Cgg>Tgg	p.R219W	CD8A_ENST00000409781.1_Splice_Site_p.R182W|CD8A_ENST00000283635.3_Splice_Site_p.R219W|CD8A_ENST00000456996.2_Splice_Site_p.R182W|CD8A_ENST00000538832.1_Splice_Site_p.R260W|CD8A_ENST00000352580.3_Splice_Site_p.R182W	NM_001145873.1	NP_001139345.1	P01732	CD8A_HUMAN	CD8a molecule	219					antigen processing and presentation (GO:0019882)|cytotoxic T cell differentiation (GO:0045065)|defense response to virus (GO:0051607)|immune response (GO:0006955)|positive regulation of calcium-mediated signaling (GO:0050850)|regulation of immune response (GO:0050776)|T cell activation (GO:0042110)|T cell mediated immunity (GO:0002456)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|T cell receptor complex (GO:0042101)	coreceptor activity (GO:0015026)|MHC class I protein binding (GO:0042288)	p.R219W(1)		lung(4)|ovary(1)|prostate(2)|urinary_tract(1)	8						GAGACTCACCGGGGACATTTG	0.507																																						ENST00000409511.2																			1	Substitution - Missense(1)	p.R219W(1)	prostate(1)	lung(4)|ovary(1)|prostate(2)|urinary_tract(1)	8						c.e8+1		CD8a molecule							55	53	54					2																	87015654		2203	4300	6503	SO:0001630	splice_region_variant	925				antigen processing and presentation|regulation of immune response|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular region|integral to plasma membrane|T cell receptor complex	coreceptor activity|MHC class I protein binding	g.chr2:87015654G>A		CCDS1992.1, CCDS1993.1	2p12	2014-09-17	2006-03-28		ENSG00000153563	ENSG00000153563		"CD molecules", "Immunoglobulin superfamily / V-set domain containing"	1706	protein-coding gene	gene with protein product		186910	"CD8 antigen, alpha polypeptide (p32)", "T-cell surface glycoprotein CD8 alpha chain"	CD8		1541829	Standard	NM_171827		Approved		uc002sru.3	P01732	OTTHUMG00000130265	ENST00000409511.2:c.656+1C>T	2.37:g.87015654G>A						CD8A_ENST00000409781.1_Splice_Site_p.R182_splice|CD8A_ENST00000538832.1_Splice_Site_p.R260_splice|CD8A_ENST00000283635.3_Splice_Site_p.R219_splice|CD8A_ENST00000456996.2_Splice_Site_p.R182_splice|CD8A_ENST00000352580.3_Splice_Site_p.R182_splice	p.R219_splice	NM_001145873.1	NP_001139345.1	P01732	CD8A_HUMAN			8	1685	-			219					B4DT80|D6W5M8|Q13970|Q4ZG17	Splice_Site	SNP	ENST00000409511.2	37	c.656_splice	CCDS1992.1	.	.	.	.	.	.	.	.	.	.	G	18.96	3.733376	0.69189	.	.	ENSG00000153563	ENST00000456996;ENST00000352580;ENST00000283635;ENST00000409511;ENST00000442577;ENST00000538832;ENST00000409781	D;D;D;D;D;D	0.86497	-2.13;-2.13;-1.55;-1.55;-1.61;-1.53	4.95	2.55	0.30701	.	0.109676	0.64402	D	0.000010	D	0.92443	0.7601	M	0.83012	2.62	0.42552	D	0.993116	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.996;0.999;0.998	D	0.91550	0.5256	10	0.87932	D	0	-33.8792	9.4433	0.38681	0.0:0.0:0.3536:0.6464	.	260;182;219	B4DT80;P01732-2;P01732	.;.;CD8A_HUMAN	W	182;182;219;219;204;260;182	ENSP00000398868:R182W;ENSP00000321631:R182W;ENSP00000283635:R219W;ENSP00000386559:R219W;ENSP00000438371:R260W;ENSP00000387314:R182W	ENSP00000283635:R219W	R	-	1	2	CD8A	86869165	0.994000	0.37717	0.996000	0.52242	0.864000	0.49448	0.752000	0.26362	0.450000	0.26774	-1.527000	0.00925	CGG		0.507	CD8A-006	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000330784.3	NM_001768	Missense_Mutation	5	21	0	0	0	1	0	5	21					A	87015654	G	A	87015654	5	1	50	1	0	0	0	0	0	0	1	0	3044	1130	39	2	60	2	CD8A	2	87015654	Splice_Site	SNP	G	TCGA-EJ-5501-01A-01D-1576-08	61548468	87015654	156183719	3	2676											
GLI2	2736	broad.mit.edu	37	chr2	121746685	121746685	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacctggtgcttccagacgaCgtggtgcagtacatcaaggc	9	8	13	11	2	1	1	1	0	0	1	2	3	2	1	2	3	3	3	2	3	2	2			TCGA-EJ-5501-01A-01D-1576-08	TCGA-EJ-5501-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fab0baa4-2ef4-46d7-a5c1-33592870967f	d259fcfd-635d-4ba9-9b74-ba6a211a00c5	g.chr2:121746685C>T	ENST00000452319.1	+	14	3255	c.3195C>T	c.(3193-3195)gaC>gaT	p.D1065D	GLI2_ENST00000314490.11_Silent_p.D737D|GLI2_ENST00000361492.4_Silent_p.D1065D					GLI family zinc finger 2									p.D1065D(1)		NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(3;0.0496)	Prostate(154;0.0623)				TTCCAGACGACGTGGTGCAGT	0.687																																						ENST00000452319.1																			1	Substitution - coding silent(1)	p.D1065D(1)	prostate(1)	NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						c.(3193-3195)gaC>gaT		GLI family zinc finger 2							40	43	42					2																	121746685		2203	4300	6503	SO:0001819	synonymous_variant	2736				axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr2:121746685C>T		CCDS33283.1	2q14	2013-01-25	2009-03-05		ENSG00000074047	ENSG00000074047		"Zinc fingers, C2H2-type"	4318	protein-coding gene	gene with protein product	"tax-responsive element-2 holding protein", "tax helper protein 1", "tax helper protein 2"	165230	"GLI-Kruppel family member GLI2", "glioma-associated oncogene family zinc finger 2"			2850480, 9557682	Standard	NM_005270		Approved	THP2, HPE9, THP1	uc010flp.3	P10070	OTTHUMG00000153741	ENST00000452319.1:c.3195C>T	2.37:g.121746685C>T						GLI2_ENST00000361492.4_Silent_p.D1065D|GLI2_ENST00000314490.11_Silent_p.D737D	p.D1065D			P10070	GLI2_HUMAN			14	3255	+	Renal(3;0.0496)	Prostate(154;0.0623)	1065						Silent	SNP	ENST00000452319.1	37	c.3195C>T	CCDS33283.1																																																																																				0.687	GLI2-009	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332293.3	NM_005270		7	93	0	0	0	1	0	7	93					T	121746685	C	T	121746685	2	4	50	1	0	0	0	0	0	0	0	1	6438	535	19	1		1	GLI2	2	121746685	Silent	SNP	C	TCGA-EJ-5501-01A-01D-1576-08	34731031	121746685	121452688	4	2677											
TUBA3D	113457	broad.mit.edu	37	chr2	132237011	132237011	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gagattgttgacctagtcctGgaccggatccgcaaactggt	9	10	12	10	2	0	2	0	1	0	1	2	5	2	4	4	3	1	2	4	3	2	3			TCGA-EJ-5501-01A-01D-1576-08	TCGA-EJ-5501-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fab0baa4-2ef4-46d7-a5c1-33592870967f	d259fcfd-635d-4ba9-9b74-ba6a211a00c5	g.chr2:132237011G>C	ENST00000321253.6	+	3	464	c.357G>C	c.(355-357)ctG>ctC	p.L119L	TUBA3D_ENST00000409047.2_3'UTR	NM_080386.3	NP_525125.2	Q13748	TBA3C_HUMAN	tubulin, alpha 3d	119					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|microtubule-based process (GO:0007017)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)	p.L119L(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	32				BRCA - Breast invasive adenocarcinoma(221;0.13)		ACCTAGTCCTGGACCGGATCC	0.498																																					Ovarian(137;2059 2432 35543 39401)	ENST00000321253.6																			1	Substitution - coding silent(1)	p.L119L(1)	prostate(1)	breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	32						c.(355-357)ctG>ctC		tubulin, alpha 3d							152	146	148					2																	132237011		2203	4297	6500	SO:0001819	synonymous_variant	113457				'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity	g.chr2:132237011G>C	K03460	CCDS33290.1	2q21.1	2007-03-16			ENSG00000075886	ENSG00000075886		"Tubulins"	24071	protein-coding gene	gene with protein product	"alpha-tubulin isotype H2-alpha"					3785200	Standard	NM_080386		Approved	H2-ALPHA	uc002tsu.4	Q13748	OTTHUMG00000153600	ENST00000321253.6:c.357G>C	2.37:g.132237011G>C						TUBA3D_ENST00000409047.2_3'UTR	p.L119L	NM_080386.3	NP_525125.2	Q13748	TBA3C_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.13)	3	464	+			119					A6NJQ0|Q5W099|Q6PEY3|Q96F18	Silent	SNP	ENST00000321253.6	37	c.357G>C	CCDS33290.1																																																																																				0.498	TUBA3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331800.2	NM_080386		30	190	0	0	0	1	0	30	190					C	132237011	G	C	132237011	2	2	50	1	0	0	0	0	0	0	0	1	16744	1335	47	5		5	TUBA3D	2	132237011	Silent	SNP	G	TCGA-EJ-5501-01A-01D-1576-08	10490326	132237011	110962362	5	2678											
EBLN2	55096	broad.mit.edu	37	chr3	73111481	73111482	+	Frame_Shift_Ins	INS	-	-	A																															ttgagctatctgggaaaaacINSagacagtatccactggatgc																								rs3832186|rs201649088	byFrequency	TCGA-EJ-5501-01A-01D-1576-08	TCGA-EJ-5501-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fab0baa4-2ef4-46d7-a5c1-33592870967f	d259fcfd-635d-4ba9-9b74-ba6a211a00c5	g.chr3:73111481_73111482insA	ENST00000533473.1	+	1	672_673	c.249_250insA	c.(250-252)agafs	p.R84fs	PPP4R2_ENST00000295862.9_Intron|PPP4R2_ENST00000356692.5_Intron|PPP4R2_ENST00000394284.3_Intron	NM_018029.3	NP_060499.3	Q6P2I7	EBLN2_HUMAN	endogenous Bornavirus-like nucleoprotein 2	84										endometrium(1)|large_intestine(3)|lung(1)|prostate(1)	6						CTGGGAAAAACAGACAGTATCC	0.48													A|A|AA|insertion	1036	0.206869	0.1165	0.0908	5008	,	,		18256	0.3542		0.1203	False		,,,				2504	0.3487					ENST00000533473.1																			0				endometrium(1)|large_intestine(3)|lung(1)|prostate(1)	6						c.(247-252)aagacafs		endogenous Bornavirus-like nucleoprotein 2			,	400,3336		31,338,1499					,	0.5	0		dbSNP_107	34	874,7042		44,786,3128	no	intron,frameshift	EBLN2,PPP4R2	NM_174907.2,NM_018029.3	,	75,1124,4627	A1A1,A1R,RR		11.0409,10.7066,10.9337	,	,		1274,10378				SO:0001589	frameshift_variant	55096						protein binding	g.chr3:73111481_73111482insA		CCDS54608.1	3p13	2011-06-03			ENSG00000255423	ENSG00000255423			25493	protein-coding gene	gene with protein product	"endogenous Borna-like N element 2"	613250				20054395, 20686665	Standard	NM_018029		Approved		uc003dpj.3	Q6P2I7	OTTHUMG00000165897	ENST00000533473.1:c.250dupA	3.37:g.73111482_73111482dupA	ENSP00000432104:p.Arg84fs					PPP4R2_ENST00000356692.5_Intron|PPP4R2_ENST00000394284.3_Intron|PPP4R2_ENST00000295862.9_Intron	p.T84fs	NM_018029.3	NP_060499.3	Q6P2I7	EBLN2_HUMAN			1	672_673	+			84					Q8WWH3|Q9NW89	Frame_Shift_Ins	INS	ENST00000533473.1	37	c.249_250insA	CCDS54608.1																																																																																				0.48	EBLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386932.1	NM_018029		8	13						8	13	---	---	---	---	A	73111482	-	A	73111481	7	5	50	1	0	1	1	0	0	0	0	0	4884	477	17	0	251	0	EBLN2	3	73111481	Frame_Shift_Ins	INS	-	TCGA-EJ-5501-01A-01D-1576-08		73111481	124910949	6	2679											
GPR78	27201	broad.mit.edu	37	chr4	8584289	8584289	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gctgcctcatccagcagaagCggcgccgccaccgcgccacc	7	3	11	20	5	1	1	1	0	0	1	2	1	2	1	7	1	3	2	7	1	1	0			TCGA-EJ-5501-01A-01D-1576-08	TCGA-EJ-5501-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fab0baa4-2ef4-46d7-a5c1-33592870967f	d259fcfd-635d-4ba9-9b74-ba6a211a00c5	g.chr4:8584289C>T	ENST00000382487.4	+	2	1117	c.700C>T	c.(700-702)Cgg>Tgg	p.R234W	GPR78_ENST00000509216.1_3'UTR	NM_080819.4	NP_543009.2	Q96P69	GPR78_HUMAN	G protein-coupled receptor 78	234					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.R234W(1)		central_nervous_system(4)|kidney(4)|large_intestine(1)|lung(8)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	26						CCAGCAGAAGCGGCGCCGCCA	0.637																																						ENST00000382487.4																			1	Substitution - Missense(1)	p.R234W(1)	prostate(1)	central_nervous_system(4)|kidney(4)|large_intestine(1)|lung(8)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	26						c.(700-702)Cgg>Tgg		G protein-coupled receptor 78							98	85	89					4																	8584289		2203	4300	6503	SO:0001583	missense	27201				activation of adenylate cyclase activity by G-protein signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr4:8584289C>T	AF411107	CCDS3403.1	4p16.1	2012-08-21			ENSG00000155269	ENSG00000155269		"GPCR / Class A : Orphans"	4528	protein-coding gene	gene with protein product		606921				11574155	Standard	NM_080819		Approved		uc003glk.4	Q96P69	OTTHUMG00000128483	ENST00000382487.4:c.700C>T	4.37:g.8584289C>T	ENSP00000371927:p.Arg234Trp					GPR78_ENST00000509216.1_3'UTR	p.R234W	NM_080819.4	NP_543009.2	Q96P69	GPR78_HUMAN			2	1117	+			234					Q8NGV3	Missense_Mutation	SNP	ENST00000382487.4	37	c.700C>T	CCDS3403.1	.	.	.	.	.	.	.	.	.	.	C	12.98	2.100099	0.37048	.	.	ENSG00000155269	ENST00000382487	T	0.42131	0.98	2.43	-2.1	0.07210	GPCR, rhodopsin-like superfamily (1);	0.244402	0.30556	U	0.009370	T	0.43188	0.1236	L	0.39898	1.24	0.09310	N	0.999998	D	0.89917	1.0	D	0.68621	0.959	T	0.40942	-0.9536	10	0.44086	T	0.13	.	4.3152	0.10990	0.5683:0.2058:0.0:0.2259	.	234	Q96P69	GPR78_HUMAN	W	234	ENSP00000371927:R234W	ENSP00000371927:R234W	R	+	1	2	GPR78	8635189	0.719000	0.27986	0.000000	0.03702	0.002000	0.02628	-0.015000	0.12634	-1.198000	0.02669	-0.309000	0.09137	CGG		0.637	GPR78-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359201.1			25	112	0	0	0	1	0	25	112					T	8584289	C	T	8584289	3	4	50	1	0	0	0	0	1	0	0	0	6710	759	27	1	706	1	GPR78	4	8584289	Missense_Mutation	SNP	C	TCGA-EJ-5501-01A-01D-1576-08		8584289	182569987	7	2680											
CCDC127	133957	broad.mit.edu	37	chr5	205601	205601	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atctctaggtcagcggcgacGgggtcgacggacgctcgcac	7	6	15	13	7	2	0	1	0	1	0	5	3	2	1	0	5	1	2	0	5	1	1	rs372308365		TCGA-EJ-5501-01A-01D-1576-08	TCGA-EJ-5501-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fab0baa4-2ef4-46d7-a5c1-33592870967f	d259fcfd-635d-4ba9-9b74-ba6a211a00c5	g.chr5:205601G>A	ENST00000296824.3	-	3	726	c.594C>T	c.(592-594)ccC>ccT	p.P198P		NM_145265.2	NP_660308.1	Q96BQ5	CC127_HUMAN	coiled-coil domain containing 127	198								p.P198P(1)		breast(1)|endometrium(4)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	12			all cancers(22;0.0236)|Lung(60;0.113)			CAGCGGCGACGGGGTCGACGG	0.522													G|||	1	0.000199681	0	0	5008	,	,		17395	0.001		0	False		,,,				2504	0					ENST00000296824.3																			1	Substitution - coding silent(1)	p.P198P(1)	prostate(1)	breast(1)|endometrium(4)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	12						c.(592-594)ccC>ccT		coiled-coil domain containing 127							75	72	73					5																	205601		2203	4300	6503	SO:0001819	synonymous_variant	133957							g.chr5:205601G>A	AK098567	CCDS3852.1	5p15.33	2008-02-05			ENSG00000164366	ENSG00000164366			30520	protein-coding gene	gene with protein product						12477932	Standard	NM_145265		Approved	FLJ25701	uc003jam.1	Q96BQ5	OTTHUMG00000161586	ENST00000296824.3:c.594C>T	5.37:g.205601G>A							p.P198P	NM_145265.2	NP_660308.1	Q96BQ5	CC127_HUMAN	all cancers(22;0.0236)|Lung(60;0.113)		3	726	-			198						Silent	SNP	ENST00000296824.3	37	c.594C>T	CCDS3852.1																																																																																				0.522	CCDC127-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365459.2	NM_145265		16	82	0	0	0	1	0	16	82					A	205601	G	A	205601	2	1	50	1	0	0	0	0	0	0	0	1	2763	1103	39	2		2	CCDC127	5	205601	Silent	SNP	G	TCGA-EJ-5501-01A-01D-1576-08		205601	180709659	8	2681											
IRX2	153572	broad.mit.edu	37	chr5	2749500	2749500	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccgctgcccgctcaccttcGtcctctgccgaggtctccgt	2	10	10	19	5	3	0	1	0	2	0	6	1	4	0	6	1	2	2	6	1	0	1			TCGA-EJ-5501-01A-01D-1576-08	TCGA-EJ-5501-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fab0baa4-2ef4-46d7-a5c1-33592870967f	d259fcfd-635d-4ba9-9b74-ba6a211a00c5	g.chr5:2749500G>A	ENST00000382611.6	-	2	899	c.651C>T	c.(649-651)gaC>gaT	p.D217D	C5orf38_ENST00000457752.2_5'Flank|IRX2_ENST00000502957.1_5'UTR|IRX2_ENST00000302057.5_Silent_p.D217D|C5orf38_ENST00000515640.1_5'Flank|C5orf38_ENST00000505778.1_5'Flank|C5orf38_ENST00000397835.4_5'Flank|C5orf38_ENST00000334000.3_5'Flank	NM_001134222.1	NP_001127694.1	Q9BZI1	IRX2_HUMAN	iroquois homeobox 2	217					proximal/distal pattern formation involved in metanephric nephron development (GO:0072272)|regulation of transcription, DNA-templated (GO:0006355)|specification of loop of Henle identity (GO:0072086)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)	p.D217D(2)		breast(1)|central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(2)|lung(12)|prostate(1)|skin(2)	26				GBM - Glioblastoma multiforme(108;0.204)		GCTCACCTTCGTCCTCTGCCG	0.682																																						ENST00000382611.6																			2	Substitution - coding silent(2)	p.D217D(2)	prostate(2)	breast(1)|central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(2)|lung(12)|prostate(1)|skin(2)	26						c.(649-651)gaC>gaT		iroquois homeobox 2							61	56	58					5																	2749500		2203	4300	6503	SO:0001819	synonymous_variant	153572					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr5:2749500G>A	AF319967	CCDS3868.1	5p15.33	2011-06-20	2007-07-13		ENSG00000170561	ENSG00000170561		"Homeoboxes / TALE class"	14359	protein-coding gene	gene with protein product		606198				11435706	Standard	NM_033267		Approved		uc003jdb.3	Q9BZI1	OTTHUMG00000090377	ENST00000382611.6:c.651C>T	5.37:g.2749500G>A						IRX2_ENST00000302057.5_Silent_p.D217D|IRX2_ENST00000502957.1_5'UTR	p.D217D	NM_001134222.1	NP_001127694.1	Q9BZI1	IRX2_HUMAN		GBM - Glioblastoma multiforme(108;0.204)	2	899	-			217					Q68A19|Q7Z2I7	Silent	SNP	ENST00000382611.6	37	c.651C>T	CCDS3868.1																																																																																				0.682	IRX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206749.2			5	61	0	0	0	1	0	5	61					A	2749500	G	A	2749500	2	1	50	1	0	0	0	0	0	0	0	1	7844	1136	40	1		1	IRX2	5	2749500	Silent	SNP	G	TCGA-EJ-5501-01A-01D-1576-08	2543899	2749500	178165760	9	2682											
ANKH	56172	broad.mit.edu	37	chr5	14711313	14711313	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggcgtcccgtgccttattcaTtctcctctctcatttccacg	4	15	6	16	3	4	0	2	0	2	0	8	0	6	0	4	1	1	0	4	1	1	4			TCGA-EJ-5501-01A-01D-1576-08	TCGA-EJ-5501-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fab0baa4-2ef4-46d7-a5c1-33592870967f	d259fcfd-635d-4ba9-9b74-ba6a211a00c5	g.chr5:14711313T>C	ENST00000284268.6	-	12	1802	c.1472A>G	c.(1471-1473)aAt>aGt	p.N491S	ANKH_ENST00000535119.1_Missense_Mutation_p.N293S	NM_054027.4	NP_473368.1	Q9HCJ1	ANKH_HUMAN	ANKH inorganic pyrophosphate transport regulator	491					locomotory behavior (GO:0007626)|regulation of bone mineralization (GO:0030500)|skeletal system development (GO:0001501)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|outer membrane (GO:0019867)|plasma membrane (GO:0005886)	inorganic diphosphate transmembrane transporter activity (GO:0030504)|inorganic phosphate transmembrane transporter activity (GO:0005315)|phosphate ion transmembrane transporter activity (GO:0015114)	p.N491S(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	29						GCCTTATTCATTCTCCTCTCT	0.532																																						ENST00000284268.6																			1	Substitution - Missense(1)	p.N491S(1)	prostate(1)	breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	29						c.(1471-1473)aAt>aGt		ANKH inorganic pyrophosphate transport regulator							272	229	244					5																	14711313		2203	4300	6503	SO:0001583	missense	56172				locomotory behavior|regulation of bone mineralization|skeletal system development	integral to plasma membrane|outer membrane	inorganic diphosphate transmembrane transporter activity|inorganic phosphate transmembrane transporter activity	g.chr5:14711313T>C	AF274753	CCDS3885.1	5p15.2	2013-06-19	2013-06-19		ENSG00000154122	ENSG00000154122			15492	protein-coding gene	gene with protein product		605145	"ankylosis, progressive (mouse) homolog", "craniometaphyseal dysplasia, Jackson type (dominant)", "ankylosis, progressive homolog (mouse)"	CCAL2, CMDJ		10894769, 12297989, 11326338	Standard	NM_054027		Approved	HANK, ANK, CPPDD	uc003jfm.4	Q9HCJ1	OTTHUMG00000090539	ENST00000284268.6:c.1472A>G	5.37:g.14711313T>C	ENSP00000284268:p.Asn491Ser					ANKH_ENST00000535119.1_Missense_Mutation_p.N293S	p.N491S	NM_054027.4	NP_473368.1	Q9HCJ1	ANKH_HUMAN			12	1802	-			491					B2RCA7|B3KMG4|D3DTD4|Q9NQW2	Missense_Mutation	SNP	ENST00000284268.6	37	c.1472A>G	CCDS3885.1	.	.	.	.	.	.	.	.	.	.	T	12.52	1.962263	0.34659	.	.	ENSG00000154122	ENST00000535119;ENST00000284268	D;D	0.95307	-3.1;-3.67	5.17	-0.144	0.13440	.	0.988098	0.08285	N	0.969322	D	0.83972	0.5370	N	0.08118	0	0.29232	N	0.873186	B	0.02656	0.0	B	0.01281	0.0	T	0.72050	-0.4407	10	0.13470	T	0.59	-43.6996	5.2204	0.15366	0.0:0.3084:0.1452:0.5464	.	491	Q9HCJ1	ANKH_HUMAN	S	293;491	ENSP00000442524:N293S;ENSP00000284268:N491S	ENSP00000284268:N491S	N	-	2	0	ANKH	14764313	0.371000	0.25056	0.039000	0.18376	0.998000	0.95712	0.667000	0.25112	-0.251000	0.09542	0.533000	0.62120	AAT		0.532	ANKH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207063.1	NM_054027		51	176	0	0	0	1	0	51	176					C	14711313	T	C	14711313	3	2	50	1	0	0	0	0	1	0	0	0	627	1493	52	4	10	4	ANKH	5	14711313	Missense_Mutation	SNP	T	TCGA-EJ-5501-01A-01D-1576-08	11961813	14711313	166203947	10	2683											
MRPS30	10884	broad.mit.edu	37	chr5	44809374	44809374	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttcgcgctgaatgccgacCgctggtaccagtacttcacc	7	9	9	16	4	1	1	1	1	0	0	2	2	1	1	5	1	3	4	5	1	3	4			TCGA-EJ-5501-01A-01D-1576-08	TCGA-EJ-5501-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fab0baa4-2ef4-46d7-a5c1-33592870967f	d259fcfd-635d-4ba9-9b74-ba6a211a00c5	g.chr5:44809374C>G	ENST00000507110.1	+	1	348	c.310C>G	c.(310-312)Cgc>Ggc	p.R104G	RP11-53O19.1_ENST00000505401.1_RNA|RP11-53O19.1_ENST00000514597.1_RNA|RP11-53O19.1_ENST00000505302.1_RNA|RP11-53O19.1_ENST00000503179.1_RNA|RP11-53O19.1_ENST00000508123.1_RNA|RP11-53O19.1_ENST00000508945.1_RNA|RP11-53O19.1_ENST00000503452.1_RNA|RP11-53O19.1_ENST00000505637.1_RNA	NM_016640.3	NP_057724.2	Q9NP92	RT30_HUMAN	mitochondrial ribosomal protein S30	104					apoptotic process (GO:0006915)|translation (GO:0006412)	mitochondrion (GO:0005739)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)	p.R104G(2)		central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(2)|lung(11)|prostate(1)	20	Lung NSC(6;8.08e-07)					GAATGCCGACCGCTGGTACCA	0.617																																						ENST00000507110.1																			2	Substitution - Missense(2)	p.R104G(2)	prostate(2)	central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(2)|lung(11)|prostate(1)	20						c.(310-312)Cgc>Ggc		mitochondrial ribosomal protein S30							31	33	32					5																	44809374		2203	4300	6503	SO:0001583	missense	10884				apoptosis|translation	mitochondrion|ribosome	structural constituent of ribosome	g.chr5:44809374C>G	AF146192	CCDS3951.1	5q11	2012-09-13		2001-11-09	ENSG00000112996	ENSG00000112996		"Mitochondrial ribosomal proteins / small subunits"	8769	protein-coding gene	gene with protein product		611991		PDCD9		10640817, 11279123	Standard	NM_016640		Approved	PAP	uc003joh.3	Q9NP92	OTTHUMG00000096967	ENST00000507110.1:c.310C>G	5.37:g.44809374C>G	ENSP00000424328:p.Arg104Gly						p.R104G	NM_016640.3	NP_057724.2	Q9NP92	RT30_HUMAN			1	348	+	Lung NSC(6;8.08e-07)		104					Q96I91|Q96Q19|Q9H0P8|Q9NSF9|Q9NZ76	Missense_Mutation	SNP	ENST00000507110.1	37	c.310C>G	CCDS3951.1	.	.	.	.	.	.	.	.	.	.	C	17.38	3.375777	0.61735	.	.	ENSG00000112996	ENST00000507110	T	0.19105	2.17	5.25	5.25	0.73442	.	0.095328	0.64402	D	0.000001	T	0.47229	0.1434	M	0.68952	2.095	0.58432	D	0.999997	D	0.89917	1.0	D	0.79108	0.992	T	0.32025	-0.9922	10	0.54805	T	0.06	-1.223	19.3941	0.94598	0.0:1.0:0.0:0.0	.	104	Q9NP92	RT30_HUMAN	G	104	ENSP00000424328:R104G	ENSP00000424328:R104G	R	+	1	0	MRPS30	44845131	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	1.641000	0.37197	2.885000	0.99019	0.655000	0.94253	CGC		0.617	MRPS30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214033.2	NM_016640		5	26	0	0	0	1	0	5	26					G	44809374	C	G	44809374	3	3	50	1	0	0	0	0	1	0	0	0	9840	652	23	5	312	5	MRPS30	5	44809374	Missense_Mutation	SNP	C	TCGA-EJ-5501-01A-01D-1576-08	30098061	44809374	136105886	11	2684											
MCC	4163	broad.mit.edu	37	chr5	112478967	112478967	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgttgagctccgcaatgaCgctgtggagctctgtgatgc	6	12	13	10	2	1	3	0	3	1	0	2	4	2	4	1	1	3	5	1	1	1	2	rs200082888		TCGA-EJ-5501-01A-01D-1576-08	TCGA-EJ-5501-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fab0baa4-2ef4-46d7-a5c1-33592870967f	d259fcfd-635d-4ba9-9b74-ba6a211a00c5	g.chr5:112478967C>T	ENST00000302475.4	-	3	825	c.262G>A	c.(262-264)Gtc>Atc	p.V88I	MCC_ENST00000514701.3_5'UTR|MCC_ENST00000515367.2_Missense_Mutation_p.V25I|MCC_ENST00000408903.3_Missense_Mutation_p.V278I	NM_002387.2	NP_002378	P23508	CRCM_HUMAN	mutated in colorectal cancers	88					negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of epithelial cell proliferation (GO:0050680)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)	p.V88I(2)|p.V278I(2)		endometrium(4)|kidney(3)|large_intestine(15)|liver(2)|lung(8)|ovary(2)|pancreas(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42		all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198)		OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766)		TCCGCAATGACGCTGTGGAGC	0.547																																						ENST00000302475.4																			4	Substitution - Missense(4)	p.V88I(2)|p.V278I(2)	prostate(4)	endometrium(4)|kidney(3)|large_intestine(15)|liver(2)|lung(8)|ovary(2)|pancreas(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						c.(262-264)Gtc>Atc		mutated in colorectal cancers							142	103	116					5																	112478967		2202	4300	6502	SO:0001583	missense	4163				negative regulation of canonical Wnt receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|Wnt receptor signaling pathway	cytoplasm|nucleus|plasma membrane	protein binding|receptor activity	g.chr5:112478967C>T		CCDS4111.1, CCDS43351.1	5q21-q22	2013-01-10			ENSG00000171444	ENSG00000171444		"EF-hand domain containing"	6935	protein-coding gene	gene with protein product		159350				1848370	Standard	NM_002387		Approved		uc003kql.4	P23508	OTTHUMG00000128804	ENST00000302475.4:c.262G>A	5.37:g.112478967C>T	ENSP00000305617:p.Val88Ile					MCC_ENST00000408903.3_Missense_Mutation_p.V278I|MCC_ENST00000515367.2_Missense_Mutation_p.V25I|MCC_ENST00000514701.3_5'UTR	p.V88I	NM_002387.2	NP_002378.1	P23508	CRCM_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766)	3	825	-		all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198)	88					D3DT05|Q6ZR04	Missense_Mutation	SNP	ENST00000302475.4	37	c.262G>A	CCDS4111.1	.	.	.	.	.	.	.	.	.	.	C	8.336	0.827514	0.16749	.	.	ENSG00000171444	ENST00000302475;ENST00000515367;ENST00000408903	T;T;T	0.78364	-1.17;1.97;0.6	5.96	2.36	0.29203	.	0.212061	0.41194	N	0.000931	T	0.58509	0.2127	N	0.17631	0.505	0.23519	N	0.997508	B;B;B;B	0.09022	0.0;0.001;0.002;0.0	B;B;B;B	0.06405	0.0;0.001;0.002;0.0	T	0.37820	-0.9689	10	0.18276	T	0.48	-17.8954	8.293	0.31969	0.0:0.2321:0.0:0.7679	.	88;50;278;88	B7Z6G0;B3KTX0;P23508-2;P23508	.;.;.;CRCM_HUMAN	I	88;25;278	ENSP00000305617:V88I;ENSP00000421615:V25I;ENSP00000386227:V278I	ENSP00000305617:V88I	V	-	1	0	MCC	112506866	1.000000	0.71417	0.994000	0.49952	0.276000	0.26787	2.553000	0.45837	0.167000	0.19631	0.655000	0.94253	GTC		0.547	MCC-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000250736.3	NM_001085377		10	34	0	0	0	1	0	10	34					T	112478967	C	T	112478967	3	4	50	1	0	0	0	0	1	0	0	0	9373	536	19	1	2287	1	MCC	5	112478967	Missense_Mutation	SNP	C	TCGA-EJ-5501-01A-01D-1576-08	67669593	112478967	68436293	12	2685											
FAM153A	285596	broad.mit.edu	37	chr5	177163583	177163583	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gatcccagaatacgtacattCggccagtgtgtctgggtccc	8	10	11	12	2	1	1	0	0	1	1	4	2	3	1	3	2	2	1	3	2	3	3	rs143733594		TCGA-EJ-5501-01A-01D-1576-08	TCGA-EJ-5501-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fab0baa4-2ef4-46d7-a5c1-33592870967f	d259fcfd-635d-4ba9-9b74-ba6a211a00c5	g.chr5:177163583C>T	ENST00000440605.3	-	11	713	c.430G>A	c.(430-432)Gaa>Aaa	p.E144K	FAM153A_ENST00000513554.1_Intron|FAM153A_ENST00000510276.1_Missense_Mutation_p.E144K|FAM153A_ENST00000393518.3_Intron	NM_173663.3	NP_775934.3	Q9UHL3	F153A_HUMAN	family with sequence similarity 153, member A	144								p.E144K(3)		kidney(6)|large_intestine(1)|lung(1)|prostate(1)|skin(1)|stomach(1)	11	all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TACGTACATTCGGCCAGTGTG	0.458																																						ENST00000440605.3																			3	Substitution - Missense(3)	p.E144K(3)	large_intestine(1)|prostate(1)|skin(1)	kidney(6)|large_intestine(1)|lung(1)|prostate(1)|skin(1)|stomach(1)	11						c.(430-432)Gaa>Aaa		family with sequence similarity 153, member A		C	LYS/GLU	0,4320		0,0,2160	99	80	86		430	0.9	0	5	dbSNP_134	86	1,8215		0,1,4107	no	missense	FAM153A	NM_173663.3	56	0,1,6267	TT,TC,CC		0.0122,0.0,0.0080	possibly-damaging	144/311	177163583	1,12535	2160	4108	6268	SO:0001583	missense	285596							g.chr5:177163583C>T	AB018295	CCDS34305.1	5q35.3	2010-05-12			ENSG00000170074	ENSG00000170074			29940	protein-coding gene	gene with protein product	"NY REN 7 antigen"					10508479, 9872452	Standard	NM_173663		Approved	NY-REN-7	uc003mic.3	Q9UHL3	OTTHUMG00000163394	ENST00000440605.3:c.430G>A	5.37:g.177163583C>T	ENSP00000411506:p.Glu144Lys					FAM153A_ENST00000393518.3_Intron|FAM153A_ENST00000513554.1_Intron|FAM153A_ENST00000510276.1_Missense_Mutation_p.E144K	p.E144K	NM_173663.3	NP_775934.3	Q9UHL3	F153A_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		11	713	-	all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	144					A8K0F3|O94852	Missense_Mutation	SNP	ENST00000440605.3	37	c.430G>A	CCDS34305.1	.	.	.	.	.	.	.	.	.	.	.	12.49	1.954851	0.34471	0.0	1.22E-4	ENSG00000170074	ENST00000440977;ENST00000510276;ENST00000440605	.	.	.	0.885	0.885	0.19188	.	.	.	.	.	T	0.11793	0.0287	N	0.03608	-0.345	0.09310	N	1	P	0.47191	0.891	P	0.46049	0.502	T	0.08953	-1.0697	8	0.41790	T	0.15	.	3.0151	0.06057	0.0:0.3039:0.0:0.6961	.	144	Q9UHL3	F153A_HUMAN	K	221;144;144	.	ENSP00000353887:E144K	E	-	1	0	FAM153A	177096189	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-1.440000	0.02412	-0.128000	0.11641	-1.342000	0.01247	GAA		0.458	FAM153A-022	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417242.1	NM_173663		17	64	0	0	0	1	0	17	64					T	177163583	C	T	177163583	3	4	50	1	0	0	0	0	1	0	0	0	5460	893	31	2	542	2	FAM153A	5	177163583	Missense_Mutation	SNP	C	TCGA-EJ-5501-01A-01D-1576-08	64684616	177163583	3751677	13	2686											
MSRA	4482	broad.mit.edu	37	chr8	10285774	10285774	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aagaaccccaatggctactgCggccttgggggcaccggcgt	8	6	14	13	3	0	1	0	0	0	1	0	1	0	1	4	5	3	2	4	5	4	2			TCGA-EJ-5501-01A-01D-1576-08	TCGA-EJ-5501-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fab0baa4-2ef4-46d7-a5c1-33592870967f	d259fcfd-635d-4ba9-9b74-ba6a211a00c5	g.chr8:10285774C>T	ENST00000317173.4	+	6	909	c.660C>T	c.(658-660)tgC>tgT	p.C220C	MSRA_ENST00000528246.1_Silent_p.C154C|MSRA_ENST00000382490.5_Silent_p.C177C|MSRA_ENST00000441698.2_Silent_p.C180C	NM_012331.3	NP_036463.1	Q9UJ68	MSRA_HUMAN	methionine sulfoxide reductase A	220					cellular protein modification process (GO:0006464)|methionine metabolic process (GO:0006555)|protein repair (GO:0030091)|response to oxidative stress (GO:0006979)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	peptide-methionine (S)-S-oxide reductase activity (GO:0008113)			central_nervous_system(1)|endometrium(2)|kidney(1)|lung(4)	8		Myeloproliferative disorder(644;0.178)			L-Methionine(DB00134)	ATGGCTACTGCGGCCTTGGGG	0.532																																					NSCLC(88;1378 1469 30580 49103 52286)	ENST00000528246.1																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|lung(4)	8						c.(460-462)tgC>tgT		methionine sulfoxide reductase A	L-Methionine(DB00134)						63	59	61					8																	10285774		2203	4300	6503	SO:0001819	synonymous_variant	4482				methionine metabolic process|protein modification process|response to oxidative stress	mitochondrion|nucleus	peptide-methionine-(S)-S-oxide reductase activity	g.chr8:10285774C>T	BC054033	CCDS5975.1, CCDS47798.1, CCDS47799.1, CCDS56522.1	8p23.1	2009-07-10			ENSG00000175806	ENSG00000175806	1.8.4.11		7377	protein-coding gene	gene with protein product		601250				10452521	Standard	NM_012331		Approved		uc003wsx.3	Q9UJ68	OTTHUMG00000090517	ENST00000317173.4:c.660C>T	8.37:g.10285774C>T						MSRA_ENST00000382490.5_Silent_p.C177C|MSRA_ENST00000317173.4_Silent_p.C220C|MSRA_ENST00000441698.2_Silent_p.C180C	p.C154C	NM_001199729.1	NP_001186658.1	Q9UJ68	MSRA_HUMAN			7	1085	+		Myeloproliferative disorder(644;0.178)	220					E9PAS8|Q52TC4|Q549N4|Q66MI7	Silent	SNP	ENST00000317173.4	37	c.462C>T	CCDS5975.1																																																																																				0.532	MSRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207005.1	NM_012331		3	57	0	0	0	1	0	3	57					T	10285774	C	T	10285774	2	4	50	1	0	0	0	0	0	0	0	1	9887	776	27	1		1	MSRA	8	10285774	Silent	SNP	C	TCGA-EJ-5501-01A-01D-1576-08		10285774	136078248	14	2687											
CTNNAL1	8727	broad.mit.edu	37	chr9	111735029	111735029	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctaaatttccttctactcCagtaagttttaatgctttta	10	20	3	8	0	2	0	0	0	2	0	4	0	4	0	2	0	2	3	2	0	6	10			TCGA-EJ-5501-01A-01D-1576-08	TCGA-EJ-5501-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fab0baa4-2ef4-46d7-a5c1-33592870967f	d259fcfd-635d-4ba9-9b74-ba6a211a00c5	g.chr9:111735029C>T	ENST00000325551.4	-	9	1359	c.1273G>A	c.(1273-1275)Gga>Aga	p.G425R	CTNNAL1_ENST00000374595.4_Missense_Mutation_p.G425R|CTNNAL1_ENST00000488130.1_5'UTR|CTNNAL1_ENST00000325580.6_Intron	NM_003798.2	NP_003789.1	Q9UBT7	CTNL1_HUMAN	catenin (cadherin-associated protein), alpha-like 1	425					cell adhesion (GO:0007155)|Rho protein signal transduction (GO:0007266)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	structural molecule activity (GO:0005198)	p.G425R(1)		cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(4)|urinary_tract(2)	25				STAD - Stomach adenocarcinoma(157;0.0768)		CCTTCTACTCCAGTAAGTTTT	0.398																																						ENST00000374595.4																			1	Substitution - Missense(1)	p.G425R(1)	prostate(1)	cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(4)|urinary_tract(2)	25						c.(1273-1275)Gga>Aga		catenin (cadherin-associated protein), alpha-like 1							111	112	112					9																	111735029		2203	4300	6503	SO:0001583	missense	8727				cell adhesion|Rho protein signal transduction	actin cytoskeleton|cytosol|plasma membrane	cadherin binding|structural molecule activity	g.chr9:111735029C>T	AF030233	CCDS6775.1, CCDS69638.1	9q31.2	2008-07-21			ENSG00000119326	ENSG00000119326			2512	protein-coding gene	gene with protein product	"alpha-catulin", "alpha2-catulin"	604785				9806841	Standard	XM_005252291		Approved	CLLP, alpha-CATU	uc004bdo.1	Q9UBT7	OTTHUMG00000020466	ENST00000325551.4:c.1273G>A	9.37:g.111735029C>T	ENSP00000320434:p.Gly425Arg					CTNNAL1_ENST00000325551.4_Missense_Mutation_p.G425R|CTNNAL1_ENST00000488130.1_5'UTR|CTNNAL1_ENST00000325580.6_Intron	p.G425R			Q9UBT7	CTNL1_HUMAN		STAD - Stomach adenocarcinoma(157;0.0768)	9	1352	-			425					B5BU47|O76084|Q53FQ2|Q5JTQ7|Q5JTQ8|Q9Y401	Missense_Mutation	SNP	ENST00000325551.4	37	c.1273G>A	CCDS6775.1	.	.	.	.	.	.	.	.	.	.	C	34	5.317646	0.95682	.	.	ENSG00000119326	ENST00000374595;ENST00000325551	T;T	0.47528	0.84;0.84	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.69797	0.3151	M	0.70595	2.14	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.97110	1.0;0.991;1.0	T	0.69767	-0.5056	10	0.72032	D	0.01	-20.019	18.3732	0.90420	0.0:1.0:0.0:0.0	.	425;425;425	B2RBI4;Q9UBT7-2;Q9UBT7	.;.;CTNL1_HUMAN	R	425	ENSP00000363723:G425R;ENSP00000320434:G425R	ENSP00000320434:G425R	G	-	1	0	CTNNAL1	110774850	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.336000	0.79245	2.941000	0.99782	0.655000	0.94253	GGA		0.398	CTNNAL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053577.1	NM_003798		29	107	0	0	0	1	0	29	107					T	111735029	C	T	111735029	3	4	50	1	0	0	0	0	1	0	0	0	4015	603	21	3	975	3	CTNNAL1	9	111735029	Missense_Mutation	SNP	C	TCGA-EJ-5501-01A-01D-1576-08		111735029	29478402	15	2688											
TBC1D13	54662	broad.mit.edu	37	chr9	131553912	131553912	+	Frame_Shift_Del	DEL	G	G	-																															ctgagggaaatgatcatccaGcctggcattgccaaggccaa																										TCGA-EJ-5501-01A-01D-1576-08	TCGA-EJ-5501-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fab0baa4-2ef4-46d7-a5c1-33592870967f	d259fcfd-635d-4ba9-9b74-ba6a211a00c5	g.chr9:131553912delG	ENST00000372648.5	+	5	390	c.240delG	c.(238-240)cagfs	p.Q80fs	TBC1D13_ENST00000466056.1_3'UTR|TBC1D13_ENST00000223865.8_Frame_Shift_Del_p.Q80fs|TBC1D13_ENST00000539497.1_Intron	NM_018201.3	NP_060671.3	Q9NVG8	TBC13_HUMAN	TBC1 domain family, member 13	80	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.						Rab GTPase activator activity (GO:0005097)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)	6						TGATCATCCAGCCTGGCATTG	0.552																																						ENST00000372648.5																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)	6						c.(238-240)cafs		TBC1 domain family, member 13							102	90	94					9																	131553912		2203	4300	6503	SO:0001589	frameshift_variant	54662					intracellular	Rab GTPase activator activity	g.chr9:131553912delG	AK001605	CCDS6911.1, CCDS69677.1	9q34.13	2013-07-09			ENSG00000107021	ENSG00000107021			25571	protein-coding gene	gene with protein product						22762500	Standard	XM_005252060		Approved	FLJ10743	uc010myj.3	Q9NVG8	OTTHUMG00000020760	ENST00000372648.5:c.240delG	9.37:g.131553912delG	ENSP00000361731:p.Gln80fs					TBC1D13_ENST00000466056.1_3'UTR|TBC1D13_ENST00000223865.8_Frame_Shift_Del_p.Q80fs|TBC1D13_ENST00000539497.1_Intron	p.Q80fs	NM_018201.3	NP_060671.3	Q9NVG8	TBC13_HUMAN			5	390	+			80			Rab-GAP TBC.		A7E2E7|B3KW04|B9EGJ8|Q5T270|Q5T271	Frame_Shift_Del	DEL	ENST00000372648.5	37	c.240delG	CCDS6911.1																																																																																				0.552	TBC1D13-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054496.1	NM_018201		14	67						14	67	---	---	---	---	-	131553912	G	-	131553912	7	5	50	1	0	1	0	1	0	0	0	0	15599	962	34	0	258	0	TBC1D13	9	131553912	Frame_Shift_Del	DEL	G	TCGA-EJ-5501-01A-01D-1576-08	19818883	131553912	9659519	16	2689											
SEC61A2	55176	broad.mit.edu	37	chr10	12200105	12200105	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atttactaggacagtgggccGtgagtattatgtttatttac	10	16	10	5	1	0	1	0	1	0	0	0	2	0	2	1	2	2	2	1	2	6	9			TCGA-EJ-5501-01A-01D-1576-08	TCGA-EJ-5501-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fab0baa4-2ef4-46d7-a5c1-33592870967f	d259fcfd-635d-4ba9-9b74-ba6a211a00c5	g.chr10:12200105G>A	ENST00000298428.9	+	9	1064		c.e9+1		SEC61A2_ENST00000379020.4_Intron|SEC61A2_ENST00000304267.8_Splice_Site|SEC61A2_ENST00000495368.1_Splice_Site|SEC61A2_ENST00000379033.3_Splice_Site	NM_018144.3	NP_060614.2	Q9H9S3	S61A2_HUMAN	Sec61 alpha 2 subunit (S. cerevisiae)						antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	ribosome binding (GO:0043022)	p.?(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		Renal(717;0.228)				ACAGTGGGCCGTGAGTATTAT	0.368																																						ENST00000379033.3																			1	Unknown(1)	p.?(1)	prostate(1)	cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						c.e8+1		Sec61 alpha 2 subunit (S. cerevisiae)							62	59	60					10																	12200105		2203	4300	6503	SO:0001630	splice_region_variant	55176					endoplasmic reticulum membrane|integral to membrane	P-P-bond-hydrolysis-driven protein transmembrane transporter activity	g.chr10:12200105G>A	AF346603	CCDS7088.1, CCDS44358.1, CCDS44359.1	10p14	2004-01-06			ENSG00000065665	ENSG00000065665			17702	protein-coding gene	gene with protein product							Standard	NM_018144		Approved	FLJ10578	uc001ile.2	Q9H9S3	OTTHUMG00000017679	ENST00000298428.9:c.975+1G>A	10.37:g.12200105G>A						SEC61A2_ENST00000304267.8_Splice_Site|SEC61A2_ENST00000495368.1_Splice_Site|SEC61A2_ENST00000379020.4_Intron|SEC61A2_ENST00000298428.9_Splice_Site		NM_001142628.1	NP_001136100.1	Q9H9S3	S61A2_HUMAN			8	1056	+		Renal(717;0.228)						A8K8D0|B4DX72|F8W773	Splice_Site	SNP	ENST00000298428.9	37		CCDS7088.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.357693	0.82243	.	.	ENSG00000065665	ENST00000379033;ENST00000298428;ENST00000304267;ENST00000426560	.	.	.	5.39	5.39	0.77823	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.5031	0.90889	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SEC61A2	12240111	1.000000	0.71417	0.982000	0.44146	0.952000	0.60782	9.773000	0.98989	2.685000	0.91497	0.655000	0.94253	.		0.368	SEC61A2-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046795.1	NM_018144	Intron	10	45	0	0	0	1	0	10	45					A	12200105	G	A	12200105	5	1	50	1	0	0	0	0	0	0	1	0	14001	1159	40	1	1010	1	SEC61A2	10	12200105	Splice_Site	SNP	G	TCGA-EJ-5501-01A-01D-1576-08		12200105	123334642	17	2690											
ADAMTS14	140766	broad.mit.edu	37	chr10	72500856	72500856	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggcccagcagtgtgccaagcGcaactcctactatgtgcacc	9	7	10	15	1	0	0	0	0	0	0	1	0	1	0	4	1	6	3	4	1	4	2			TCGA-EJ-5501-01A-01D-1576-08	TCGA-EJ-5501-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fab0baa4-2ef4-46d7-a5c1-33592870967f	d259fcfd-635d-4ba9-9b74-ba6a211a00c5	g.chr10:72500856G>A	ENST00000373207.1	+	12	1862	c.1862G>A	c.(1861-1863)cGc>cAc	p.R621H	ADAMTS14_ENST00000373208.1_Missense_Mutation_p.R624H	NM_080722.3	NP_542453.2	Q8WXS8	ATS14_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 14	621	Cys-rich.				collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.R624H(2)		NS(1)|autonomic_ganglia(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(15)|ovary(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						TGTGCCAAGCGCAACTCCTAC	0.627																																						ENST00000373208.1																			2	Substitution - Missense(2)	p.R624H(2)	prostate(2)	NS(1)|autonomic_ganglia(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(15)|ovary(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						c.(1870-1872)cGc>cAc		ADAM metallopeptidase with thrombospondin type 1 motif, 14							77	66	70					10																	72500856		2203	4300	6503	SO:0001583	missense	140766				collagen catabolic process|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr10:72500856G>A	AF358666	CCDS7306.1, CCDS7307.1	10q21	2008-08-01	2005-08-19		ENSG00000138316	ENSG00000138316		"ADAM metallopeptidases with thrombospondin type 1 motif"	14899	protein-coding gene	gene with protein product		607506	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 14"			11779638	Standard	NM_139155		Approved		uc001jrg.3	Q8WXS8	OTTHUMG00000018414	ENST00000373207.1:c.1862G>A	10.37:g.72500856G>A	ENSP00000362303:p.Arg621His					ADAMTS14_ENST00000373207.1_Missense_Mutation_p.R621H	p.R624H	NM_139155.2	NP_631894.2	Q8WXS8	ATS14_HUMAN			12	1871	+			621			Cys-rich.		Q5T4G0|Q5T4G1|Q8TE55|Q8TEY8	Missense_Mutation	SNP	ENST00000373207.1	37	c.1871G>A	CCDS7306.1	.	.	.	.	.	.	.	.	.	.	G	18.69	3.677371	0.68042	.	.	ENSG00000138316	ENST00000373208;ENST00000373207	T;T	0.03496	3.91;3.91	5.27	5.27	0.74061	.	0.000000	0.85682	D	0.000000	T	0.05044	0.0135	N	0.19112	0.55	0.43965	D	0.996641	D;P;P	0.55605	0.972;0.899;0.953	P;B;B	0.47573	0.55;0.259;0.259	T	0.59852	-0.7376	10	0.24483	T	0.36	.	18.6905	0.91581	0.0:0.0:1.0:0.0	.	554;621;624	Q8WXS8-2;Q8WXS8;Q5T4G1	.;ATS14_HUMAN;.	H	624;621	ENSP00000362304:R624H;ENSP00000362303:R621H	ENSP00000362303:R621H	R	+	2	0	ADAMTS14	72170862	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.263000	0.95617	2.735000	0.93741	0.655000	0.94253	CGC		0.627	ADAMTS14-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000048522.1	NM_080722		9	74	0	0	0	1	0	9	74					A	72500856	G	A	72500856	3	1	50	1	0	0	0	0	1	0	0	0	259	1087	38	1	1917	1	ADAMTS14	10	72500856	Missense_Mutation	SNP	G	TCGA-EJ-5501-01A-01D-1576-08	60300751	72500856	63033891	18	2691											
IGSF9B	22997	broad.mit.edu	37	chr11	133790980	133790980	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gggtacatgtccgtctcctcGgcgaaggggaagccctcgat	7	8	14	12	4	1	0	0	0	1	0	5	3	2	1	3	4	2	1	3	4	3	1	rs114264751	byFrequency	TCGA-EJ-5501-01A-01D-1576-08	TCGA-EJ-5501-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fab0baa4-2ef4-46d7-a5c1-33592870967f	d259fcfd-635d-4ba9-9b74-ba6a211a00c5	g.chr11:133790980G>A	ENST00000321016.8	-	18	2870	c.2640C>T	c.(2638-2640)gcC>gcT	p.A880A	IGSF9B_ENST00000533871.2_Silent_p.A880A			Q9UPX0	TUTLB_HUMAN	immunoglobulin superfamily, member 9B	880					homophilic cell adhesion (GO:0007156)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)	dendrite (GO:0030425)|inhibitory synapse (GO:0060077)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)		p.A336A(1)|p.A880A(1)		breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)		CCGTCTCCTCGGCGAAGGGGA	0.657													G|||	17	0.00339457	0.0129	0	5008	,	,		16556	0		0	False		,,,				2504	0					ENST00000321016.8																			2	Substitution - coding silent(2)	p.A336A(1)|p.A880A(1)	prostate(2)	breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						c.(2638-2640)gcC>gcT		immunoglobulin superfamily, member 9B		G		50,4122		0,50,2036	77	88	84		2640	-9.2	0	11	dbSNP_132	84	0,8412		0,0,4206	no	coding-synonymous	IGSF9B	NM_014987.1		0,50,6242	AA,AG,GG		0.0,1.1985,0.3973		880/1350	133790980	50,12534	2086	4206	6292	SO:0001819	synonymous_variant	22997					integral to membrane|plasma membrane		g.chr11:133790980G>A	AK097578	CCDS61010.1	11q25	2013-02-11	2005-10-12	2005-11-20				"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	32326	protein-coding gene	gene with protein product		613773					Standard	NM_001277285		Approved	KIAA1030	uc031qfh.1	Q9UPX0		ENST00000321016.8:c.2640C>T	11.37:g.133790980G>A						IGSF9B_ENST00000533871.2_Silent_p.A880A	p.A880A			Q9UPX0	TUTLB_HUMAN		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)	18	2870	-	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)	880					G5EA26	Silent	SNP	ENST00000321016.8	37	c.2640C>T																																																																																					0.657	IGSF9B-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		XM_290502		26	100	0	0	0	1	0	26	100					A	133790980	G	A	133790980	2	1	50	1	0	0	0	0	0	0	0	1	7606	1103	39	2		2	IGSF9B	11	133790980	Silent	SNP	G	TCGA-EJ-5501-01A-01D-1576-08		133790980	1215536	19	2692											
AKAP3	10566	broad.mit.edu	37	chr12	4736294	4736294	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgaaattaaagaaaacacTccttaggtccttcttttctg	13	14	6	8	0	2	2	0	1	2	1	4	3	4	2	2	1	1	0	2	1	6	5			TCGA-EJ-5501-01A-01D-1576-08	TCGA-EJ-5501-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fab0baa4-2ef4-46d7-a5c1-33592870967f	d259fcfd-635d-4ba9-9b74-ba6a211a00c5	g.chr12:4736294T>C	ENST00000545990.2	-	5	2298	c.1774A>G	c.(1774-1776)Agt>Ggt	p.S592G	AKAP3_ENST00000228850.1_Missense_Mutation_p.S592G|RP11-500M8.7_ENST00000536588.1_Intron	NM_001278309.1	NP_001265238.1	O75969	AKAP3_HUMAN	A kinase (PRKA) anchor protein 3	592					acrosome reaction (GO:0007340)|cellular component movement (GO:0006928)|protein localization (GO:0008104)|single fertilization (GO:0007338)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	acrosomal vesicle (GO:0001669)|nucleus (GO:0005634)|sperm fibrous sheath (GO:0035686)|sperm principal piece (GO:0097228)	protein kinase A binding (GO:0051018)	p.S592G(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|liver(1)|lung(17)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	51						AAGAAAACACTCCTTAGGTCC	0.468																																						ENST00000545990.2																			1	Substitution - Missense(1)	p.S592G(1)	prostate(1)	breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|liver(1)|lung(17)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	51						c.(1774-1776)Agt>Ggt		A kinase (PRKA) anchor protein 3							81	80	80					12																	4736294		2203	4300	6503	SO:0001583	missense	10566				acrosome reaction|cellular component movement	acrosomal vesicle	protein kinase A binding	g.chr12:4736294T>C	U85715	CCDS8531.1	12p13.3	2009-03-12				ENSG00000111254		"A-kinase anchor proteins"	373	protein-coding gene	gene with protein product	"Fibrous Sheath Protein of 95 kDa", "cancer/testis antigen 82"	604689				10334916, 10319321	Standard	NM_001278309		Approved	FSP95, SOB1, AKAP110, CT82	uc001qnb.4	O75969		ENST00000545990.2:c.1774A>G	12.37:g.4736294T>C	ENSP00000440994:p.Ser592Gly					AKAP3_ENST00000228850.1_Missense_Mutation_p.S592G	p.S592G	NM_001278309.1	NP_001265238.1	O75969	AKAP3_HUMAN			5	2298	-			592					O75945|Q86X01|Q9UM61	Missense_Mutation	SNP	ENST00000545990.2	37	c.1774A>G	CCDS8531.1	.	.	.	.	.	.	.	.	.	.	T	16.83	3.231331	0.58777	.	.	ENSG00000111254	ENST00000228850;ENST00000545990	T;T	0.08807	3.05;3.05	6.07	4.94	0.65067	A-kinase anchor 110kDa, C-terminal (1);	0.068148	0.64402	D	0.000007	T	0.12178	0.0296	M	0.68317	2.08	0.35289	D	0.782069	P	0.41978	0.767	B	0.41723	0.365	T	0.09015	-1.0694	10	0.62326	D	0.03	-23.3318	9.4104	0.38489	0.0:0.0803:0.0:0.9197	.	592	O75969	AKAP3_HUMAN	G	592	ENSP00000228850:S592G;ENSP00000440994:S592G	ENSP00000228850:S592G	S	-	1	0	AKAP3	4606555	1.000000	0.71417	1.000000	0.80357	0.827000	0.46813	2.829000	0.48128	2.326000	0.78906	0.533000	0.62120	AGT		0.468	AKAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398911.2	NM_006422		21	92	0	0	0	1	0	21	92					C	4736294	T	C	4736294	3	2	50	1	0	0	0	0	1	0	0	0	452	1551	54	4	795	4	AKAP3	12	4736294	Missense_Mutation	SNP	T	TCGA-EJ-5501-01A-01D-1576-08		4736294	129115601	20	2693											
TBX3	6926	broad.mit.edu	37	chr12	115114119	115114120	+	Splice_Site	DEL	TT	TT	-																															caaaggtgacatggtttaccTttgaggttcgatgtccctac																										TCGA-EJ-5501-01A-01D-1576-08	TCGA-EJ-5501-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fab0baa4-2ef4-46d7-a5c1-33592870967f	d259fcfd-635d-4ba9-9b74-ba6a211a00c5	g.chr12:115114119_115114120delTT	ENST00000257566.3	-	6	1486_1487	c.1097_1098delAA	c.(1096-1098)aaa>a	p.K366fs	TBX3_ENST00000349155.2_Splice_Site_p.K346fs	NM_016569.3	NP_057653.3	O15119	TBX3_HUMAN	T-box 3	366					anterior/posterior axis specification, embryo (GO:0008595)|atrioventricular bundle cell differentiation (GO:0003167)|blood vessel development (GO:0001568)|branching involved in mammary gland duct morphogenesis (GO:0060444)|cardiac muscle cell fate commitment (GO:0060923)|cell aging (GO:0007569)|cellular senescence (GO:0090398)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|female genitalia development (GO:0030540)|follicle-stimulating hormone secretion (GO:0046884)|forelimb morphogenesis (GO:0035136)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|limbic system development (GO:0021761)|luteinizing hormone secretion (GO:0032275)|male genitalia development (GO:0030539)|mammary gland development (GO:0030879)|mammary placode formation (GO:0060596)|mesoderm morphogenesis (GO:0048332)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epithelial cell differentiation (GO:0030857)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|organ morphogenesis (GO:0009887)|outflow tract morphogenesis (GO:0003151)|palate development (GO:0060021)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell proliferation (GO:0008284)|positive regulation of stem cell proliferation (GO:2000648)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|sinoatrial node cell development (GO:0060931)|skeletal system development (GO:0001501)|specification of organ position (GO:0010159)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)|ventricular septum morphogenesis (GO:0060412)	nucleus (GO:0005634)	RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(5)|endometrium(1)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0574)		ATGGTTTACCTTTGAGGTTCGA	0.545																																						ENST00000349155.2																			0				breast(5)|endometrium(1)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						c.e5+1		T-box 3																																				SO:0001630	splice_region_variant	6926				anterior/posterior axis specification, embryo|anti-apoptosis|cell aging|embryonic arm morphogenesis|embryonic digit morphogenesis|female genitalia development|follicle-stimulating hormone secretion|luteinizing hormone secretion|male genitalia development|mesoderm morphogenesis|negative regulation of myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle|positive regulation of cell proliferation|regulation of transcription from RNA polymerase II promoter|skeletal system development	nucleus	sequence-specific DNA binding	g.chr12:115114119_115114120delTT	BC025258	CCDS9175.1, CCDS9176.1	12q24.21	2013-09-05	2008-07-31		ENSG00000135111	ENSG00000135111		"T-boxes"	11602	protein-coding gene	gene with protein product		601621	"ulnar mammary syndrome"	UMS		8988164	Standard	NM_005996		Approved	TBX3-ISO, XHL	uc001tvt.1	O15119	OTTHUMG00000169586	ENST00000257566.3:c.1099+1AA>-	12.37:g.115114119_115114120delTT						TBX3_ENST00000257566.3_Splice_Site_p.K366_splice	p.K346_splice	NM_005996.3	NP_005987.3	O15119	TBX3_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.0574)	5	2000_2001	-	Medulloblastoma(191;0.163)|all_neural(191;0.178)		366					Q8TB20|Q9UKF8	Splice_Site	DEL	ENST00000257566.3	37	c.1039_splice	CCDS9176.1																																																																																				0.545	TBX3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000404947.2	NM_016569, NM_005996	Frame_Shift_Del	14	91						14	91	---	---	---	---	-	115114120	TT	-	115114119	8	5	50	1	0	1	0	1	0	0	1	0	15656	1623	56	0	1145	0	TBX3	12	115114119	Splice_Site	DEL	TT	TCGA-EJ-5501-01A-01D-1576-08	110377825	115114119	18737776	21	2694											
VPS13C	54832	broad.mit.edu	37	chr15	62214732	62214734	+	In_Frame_Del	DEL	ACA	ACA	-																															aggtaacttgaatggattctAcaacaacaccacaattttcc																										TCGA-EJ-5501-01A-01D-1576-08	TCGA-EJ-5501-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fab0baa4-2ef4-46d7-a5c1-33592870967f	d259fcfd-635d-4ba9-9b74-ba6a211a00c5	g.chr15:62214732_62214734delACA	ENST00000261517.5	-	54	6910_6912	c.6837_6839delTGT	c.(6835-6840)gttgta>gta	p.2279_2280VV>V	VPS13C_ENST00000249837.3_In_Frame_Del_p.2236_2237VV>V|VPS13C_ENST00000395896.4_In_Frame_Del_p.2279_2280VV>V|VPS13C_ENST00000395898.3_In_Frame_Del_p.2236_2237VV>V	NM_020821.2	NP_065872.1			vacuolar protein sorting 13 homolog C (S. cerevisiae)											NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						AATGGATTCTACAACAACACCAC	0.365																																						ENST00000261517.5																			0				NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						c.(6835-6840)gta>gt		vacuolar protein sorting 13 homolog C (S. cerevisiae)																																				SO:0001651	inframe_deletion	54832				protein localization			g.chr15:62214732_62214734delACA	AJ608770	CCDS10180.1, CCDS32257.1, CCDS45272.1, CCDS58367.1	15q21.3	2009-07-09	2006-04-04		ENSG00000129003	ENSG00000129003			23594	protein-coding gene	gene with protein product		608879	"vacuolar protein sorting 13C (yeast)"				Standard	NM_018080		Approved	FLJ20136, FLJ10381, KIAA1421	uc002agz.3	Q709C8	OTTHUMG00000132801	ENST00000261517.5:c.6837_6839delTGT	15.37:g.62214738_62214740delACA	ENSP00000261517:p.Val2280del					VPS13C_ENST00000395898.3_In_Frame_Del_p.VV2236del|VPS13C_ENST00000249837.3_In_Frame_Del_p.VV2236del|VPS13C_ENST00000395896.4_In_Frame_Del_p.VV2279del	p.VV2279del	NM_020821.2	NP_065872.1	Q709C8	VP13C_HUMAN			54	6910_6912	-			2279						In_Frame_Del	DEL	ENST00000261517.5	37	c.6837_6839delTGT	CCDS32257.1																																																																																				0.365	VPS13C-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000415997.1	NM_017684		25	165						25	165	---	---	---	---	-	62214734	ACA	-	62214732	7	5	50	1	0	1	0	1	0	0	0	0	17188	391	14	0	4578	0	VPS13C	15	62214732	In_Frame_Del	DEL	ACA	TCGA-EJ-5501-01A-01D-1576-08		62214732	40316660	22	2695											
TMC3	342125	broad.mit.edu	37	chr15	81636301	81636301	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	accagtagtcacttaagtacCgcacgaaaagtcctcggaag	14	7	9	11	3	1	0	1	0	0	0	3	2	2	1	3	1	1	3	3	1	6	3	rs369492533		TCGA-EJ-5501-01A-01D-1576-08	TCGA-EJ-5501-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fab0baa4-2ef4-46d7-a5c1-33592870967f	d259fcfd-635d-4ba9-9b74-ba6a211a00c5	g.chr15:81636301C>T	ENST00000359440.5	-	14	1739	c.1604G>A	c.(1603-1605)cGg>cAg	p.R535Q	RP11-761I4.3_ENST00000559781.1_RNA|TMC3_ENST00000558726.1_Missense_Mutation_p.R536Q|RP11-761I4.3_ENST00000559277.1_RNA|RP11-761I4.3_ENST00000560973.1_RNA|RP11-761I4.3_ENST00000560851.1_RNA	NM_001080532.1	NP_001074001.1			transmembrane channel-like 3											autonomic_ganglia(2)|breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	34						ACTTAAGTACCGCACGAAAAG	0.468																																						ENST00000558726.1																			0				autonomic_ganglia(2)|breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	34						c.(1606-1608)cGg>cAg		transmembrane channel-like 3		C	GLN/ARG	0,3970		0,0,1985	84	80	82		1604	5.5	0.4	15		82	1,8345		0,1,4172	no	missense	TMC3	NM_001080532.1	43	0,1,6157	TT,TC,CC		0.012,0.0,0.0081	probably-damaging	535/1101	81636301	1,12315	1985	4173	6158	SO:0001583	missense	342125					integral to membrane		g.chr15:81636301C>T	AY263163	CCDS45324.1	15q24.3	2006-11-24				ENSG00000188869			22995	protein-coding gene	gene with protein product						12906855, 12812529	Standard	NM_001080532		Approved		uc021ssk.1	Q7Z5M5		ENST00000359440.5:c.1604G>A	15.37:g.81636301C>T	ENSP00000352413:p.Arg535Gln					RP11-761I4.3_ENST00000559781.1_RNA|RP11-761I4.3_ENST00000560851.1_RNA|TMC3_ENST00000359440.5_Missense_Mutation_p.R535Q	p.R536Q			Q7Z5M5	TMC3_HUMAN			14	1742	-			535						Missense_Mutation	SNP	ENST00000359440.5	37	c.1607G>A	CCDS45324.1	.	.	.	.	.	.	.	.	.	.	C	36	5.680488	0.96774	0.0	1.2E-4	ENSG00000188869	ENST00000359440	T	0.63913	-0.07	5.48	5.48	0.80851	.	0.000000	0.85682	D	0.000000	T	0.80869	0.4706	M	0.77616	2.38	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.91635	0.997;0.999	T	0.82676	-0.0339	10	0.72032	D	0.01	-29.4692	19.3572	0.94420	0.0:1.0:0.0:0.0	.	535;535	Q7Z5M5-2;Q7Z5M5	.;TMC3_HUMAN	Q	535	ENSP00000352413:R535Q	ENSP00000352413:R535Q	R	-	2	0	TMC3	79423356	1.000000	0.71417	0.435000	0.26784	0.971000	0.66376	7.456000	0.80751	2.552000	0.86080	0.585000	0.79938	CGG		0.468	TMC3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417795.3	NM_181841		7	48	0	0	0	1	0	7	48					T	81636301	C	T	81636301	3	4	50	1	0	0	0	0	1	0	0	0	15983	652	23	2	1734	2	TMC3	15	81636301	Missense_Mutation	SNP	C	TCGA-EJ-5501-01A-01D-1576-08	19421569	81636301	20895091	23	2696											
CLEC18B	497190	broad.mit.edu	37	chr16	74455141	74455141	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cacagccaggagatgcccccGgccaggggaggtctctggat	8	5	15	13	1	1	1	0	0	1	1	2	4	1	3	4	6	2	0	4	6	0	0			TCGA-EJ-5501-01A-01D-1576-08	TCGA-EJ-5501-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fab0baa4-2ef4-46d7-a5c1-33592870967f	d259fcfd-635d-4ba9-9b74-ba6a211a00c5	g.chr16:74455141G>A	ENST00000339953.5	-	1	149	c.28C>T	c.(28-30)Cgg>Tgg	p.R10W	RP11-252A24.5_ENST00000566506.1_RNA|RP11-252A24.5_ENST00000567148.1_RNA	NM_001011880.2	NP_001011880.2	Q6UXF7	CL18B_HUMAN	C-type lectin domain family 18, member B	10						extracellular region (GO:0005576)	carbohydrate binding (GO:0030246)	p.R10W(1)		endometrium(3)|kidney(9)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						AGATGCCCCCGGCCAGGGGAG	0.677																																						ENST00000339953.5																			1	Substitution - Missense(1)	p.R10W(1)	prostate(1)	endometrium(3)|kidney(9)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						c.(28-30)Cgg>Tgg		C-type lectin domain family 18, member B							33	42	39					16																	74455141		2196	4292	6488	SO:0001583	missense	497190					extracellular region	sugar binding	g.chr16:74455141G>A	AY358373	CCDS32484.1	16q22.3	2010-04-27	2009-03-10	2009-03-10		ENSG00000140839		"C-type lectin domain containing"	33849	protein-coding gene	gene with protein product							Standard	NM_001011880		Approved		uc002fct.3	Q6UXF7		ENST00000339953.5:c.28C>T	16.37:g.74455141G>A	ENSP00000341051:p.Arg10Trp						p.R10W	NM_001011880.2	NP_001011880.2	Q6UXF7	CL18B_HUMAN			1	149	-			10					B4DF90	Missense_Mutation	SNP	ENST00000339953.5	37	c.28C>T	CCDS32484.1	.	.	.	.	.	.	.	.	.	.	g	10.09	1.253756	0.22965	.	.	ENSG00000140839	ENST00000429489;ENST00000339953;ENST00000268492;ENST00000425714	T	0.23754	1.89	2.53	-0.718	0.11205	.	2.659970	0.01411	N	0.014018	T	0.14356	0.0347	N	0.08118	0	0.09310	N	1	B;B;B	0.06786	0.001;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.25813	-1.0121	10	0.49607	T	0.09	.	5.9628	0.19308	0.3058:0.0:0.6942:0.0	.	10;10;10	Q6UXF7-2;C9JSV1;Q6UXF7	.;.;CL18B_HUMAN	W	10	ENSP00000341051:R10W	ENSP00000268492:R10W	R	-	1	2	CLEC18B	73012642	0.000000	0.05858	0.002000	0.10522	0.359000	0.29487	-0.054000	0.11826	-0.107000	0.12088	0.423000	0.28283	CGG		0.677	CLEC18B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434697.1	NM_001011880		12	115	0	0	0	1	0	12	115					A	74455141	G	A	74455141	3	1	50	1	0	0	0	0	1	0	0	0	3503	1115	39	2	1391	2	CLEC18B	16	74455141	Missense_Mutation	SNP	G	TCGA-EJ-5501-01A-01D-1576-08		74455141	15899612	24	2697											
C17orf56	146705	broad.mit.edu	37	chr17	79207799	79207799	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acctgcgcggccgcgcgaacCttctggtacaagctgttccc	6	8	11	16	5	1	0	0	0	1	0	2	1	2	0	4	2	4	3	4	2	3	3			TCGA-EJ-5501-01A-01D-1576-08	TCGA-EJ-5501-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fab0baa4-2ef4-46d7-a5c1-33592870967f	d259fcfd-635d-4ba9-9b74-ba6a211a00c5	g.chr17:79207799C>T	ENST00000300714.3	-	5	414	c.357G>A	c.(355-357)aaG>aaA	p.K119K	AC027601.1_ENST00000575922.1_RNA|ENTHD2_ENST00000374769.2_5'UTR|AC027601.1_ENST00000569559.1_RNA	NM_144679.2	NP_653280.1	Q96N21	AP4AT_HUMAN	ENTH domain containing 2	119	ENTH.					cytoplasmic vesicle (GO:0031410)		p.K119K(1)									CCGCGCGAACCTTCTGGTACA	0.662																																						ENST00000300714.3																			1	Substitution - coding silent(1)	p.K119K(1)	prostate(1)								c.(355-357)aaG>aaA		ENTH domain containing 2							24	26	25					17																	79207799		2203	4299	6502	SO:0001819	synonymous_variant	146705							g.chr17:79207799C>T	AK056090	CCDS11779.1	17q25.3	2012-07-18	2012-07-18	2012-07-18	ENSG00000167302	ENSG00000167302			26458	protein-coding gene	gene with protein product			"chromosome 17 open reading frame 56"	C17orf56			Standard	NM_144679		Approved	FLJ31528	uc002jzu.2	Q96N21	OTTHUMG00000177866	ENST00000300714.3:c.357G>A	17.37:g.79207799C>T						ENTHD2_ENST00000374769.2_5'UTR	p.K119K	NM_144679.2	NP_653280.1					5	414	-								Q6ZQU0|Q6ZSQ9	Silent	SNP	ENST00000300714.3	37	c.357G>A	CCDS11779.1																																																																																				0.662	ENTHD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439315.1	NM_144679		4	39	0	0	0	1	0	4	39					T	79207799	C	T	79207799	2	4	50	1	0	0	0	0	0	0	0	1	1864	680	24	3		3	C17orf56	17	79207799	Silent	SNP	C	TCGA-EJ-5501-01A-01D-1576-08		79207799	1987411	25	2698											
CSE1L	1434	broad.mit.edu	37	chr20	47692015	47692015	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaacacaaagatgcagccatCtacctagtgacatctttggc	14	9	7	11	0	2	2	0	1	2	1	2	2	2	2	2	1	4	1	2	1	4	3			TCGA-EJ-5501-01A-01D-1576-08	TCGA-EJ-5501-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fab0baa4-2ef4-46d7-a5c1-33592870967f	d259fcfd-635d-4ba9-9b74-ba6a211a00c5	g.chr20:47692015C>T	ENST00000262982.2	+	12	1416	c.1293C>T	c.(1291-1293)atC>atT	p.I431I	CSE1L_ENST00000396192.3_Silent_p.I375I|CSE1L_ENST00000542325.1_Silent_p.I214I	NM_001256135.1|NM_001316.3	NP_001243064.1|NP_001307.2	P55060	XPO2_HUMAN	CSE1 chromosome segregation 1-like (yeast)	431					apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|protein export from nucleus (GO:0006611)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	importin-alpha export receptor activity (GO:0008262)	p.I431I(1)		breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(11)|ovary(1)|prostate(3)|skin(2)|urinary_tract(2)	35			BRCA - Breast invasive adenocarcinoma(12;0.000491)|Colorectal(8;0.198)			ATGCAGCCATCTACCTAGTGA	0.403																																						ENST00000262982.2																			1	Substitution - coding silent(1)	p.I431I(1)	prostate(1)	breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(11)|ovary(1)|prostate(3)|skin(2)|urinary_tract(2)	35						c.(1291-1293)atC>atT		CSE1 chromosome segregation 1-like (yeast)							116	107	110					20																	47692015		2203	4300	6503	SO:0001819	synonymous_variant	1434				apoptosis|cell proliferation|intracellular protein transport	cytoplasm|nucleus	importin-alpha export receptor activity	g.chr20:47692015C>T	U33286	CCDS13412.1, CCDS58773.1	20q13	2013-05-01	2001-11-28		ENSG00000124207	ENSG00000124207		"Exportins"	2431	protein-coding gene	gene with protein product	"cellular apoptosis susceptibility"	601342	"chromosome segregation 1 (yeast homolog)-like"			8963895, 7479798	Standard	NM_001316		Approved	CAS, XPO2, CSE1	uc002xty.4	P55060	OTTHUMG00000033046	ENST00000262982.2:c.1293C>T	20.37:g.47692015C>T						CSE1L_ENST00000396192.3_Silent_p.I375I|CSE1L_ENST00000542325.1_Silent_p.I214I	p.I431I	NM_001256135.1|NM_001316.3	NP_001243064.1|NP_001307.2	P55060	XPO2_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.000491)|Colorectal(8;0.198)		12	1416	+			431					A3RLL6|B2R5T4|E1P5Y0|F8W904|O75432|Q32M40|Q9H5B7|Q9NTS0|Q9UP98|Q9UP99|Q9UPA0	Silent	SNP	ENST00000262982.2	37	c.1293C>T	CCDS13412.1																																																																																				0.403	CSE1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080345.2	NM_001316		4	100	0	0	0	1	0	4	100					T	47692015	C	T	47692015	2	4	50	1	0	0	0	0	0	0	0	1	3930	903	32	3		3	CSE1L	20	47692015	Silent	SNP	C	TCGA-EJ-5501-01A-01D-1576-08		47692015	15333505	26	2699											
PICK1	9463	broad.mit.edu	37	chr22	38467745	38467745	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tttatgagctgtcgcagactCaccggggtaatggcatcccc	8	10	11	12	2	1	2	1	1	0	1	3	2	2	2	3	3	1	4	3	3	2	3			TCGA-EJ-5501-01A-01D-1576-08	TCGA-EJ-5501-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fab0baa4-2ef4-46d7-a5c1-33592870967f	d259fcfd-635d-4ba9-9b74-ba6a211a00c5	g.chr22:38467745C>T	ENST00000404072.3	+	8	897	c.550C>T	c.(550-552)Cac>Tac	p.H184Y	RP5-1039K5.13_ENST00000445483.1_RNA|PICK1_ENST00000356976.3_Missense_Mutation_p.H184Y	NM_001039583.1|NM_001039584.1	NP_001034672.1|NP_001034673.1	Q9NRD5	PICK1_HUMAN	protein interacting with PRKCA 1	184	AH. {ECO:0000255|PROSITE- ProRule:PRU00294}.				ATP catabolic process (GO:0006200)|cellular response to decreased oxygen levels (GO:0036294)|cellular response to glucose starvation (GO:0042149)|dendritic spine maintenance (GO:0097062)|dendritic spine organization (GO:0097061)|DNA methylation involved in embryo development (GO:0043045)|DNA methylation involved in gamete generation (GO:0043046)|glial cell development (GO:0021782)|long term synaptic depression (GO:0060292)|monoamine transport (GO:0015844)|negative regulation of Arp2/3 complex-mediated actin nucleation (GO:0034316)|neuronal ion channel clustering (GO:0045161)|positive regulation of receptor internalization (GO:0002092)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein phosphorylation (GO:0006468)|protein targeting (GO:0006605)|receptor clustering (GO:0043113)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|endocytic vesicle membrane (GO:0030666)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|neuronal postsynaptic density (GO:0097481)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|synapse (GO:0045202)	actin filament binding (GO:0051015)|Arp2/3 complex binding (GO:0071933)|ATPase activity (GO:0016887)|enzyme binding (GO:0019899)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)|protein kinase C binding (GO:0005080)|receptor binding (GO:0005102)	p.H184Y(1)		cervix(1)|endometrium(3)|large_intestine(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	13	Melanoma(58;0.045)					GTCGCAGACTCACCGGGGTAA	0.617																																						ENST00000404072.3																			1	Substitution - Missense(1)	p.H184Y(1)	prostate(1)	cervix(1)|endometrium(3)|large_intestine(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	13						c.(550-552)Cac>Tac		protein interacting with PRKCA 1							81	74	77					22																	38467745		2203	4300	6503	SO:0001583	missense	9463				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|DNA methylation involved in embryo development|DNA methylation involved in gamete generation|monoamine transport|neuronal ion channel clustering|protein phosphorylation|receptor clustering|retrograde vesicle-mediated transport, Golgi to ER|synaptic transmission	cell junction|endocytic vesicle membrane|Golgi apparatus|perinuclear region of cytoplasm|presynaptic membrane	ATPase activity|metal ion binding|protein C-terminus binding|protein kinase C binding|receptor binding	g.chr22:38467745C>T	AL049654	CCDS13965.1	22q13.1	2006-02-14	2006-02-14	2006-02-14	ENSG00000100151	ENSG00000100151			9394	protein-coding gene	gene with protein product		605926	"protein kinase C, alpha binding protein", "protein interacting with PRKCA"	PRKCABP		10340301, 10591208	Standard	XM_006724377		Approved	dJ1039K5, MGC15204	uc003aus.3	Q9NRD5	OTTHUMG00000151159	ENST00000404072.3:c.550C>T	22.37:g.38467745C>T	ENSP00000385205:p.His184Tyr					PICK1_ENST00000356976.3_Missense_Mutation_p.H184Y|RP5-1039K5.13_ENST00000445483.1_RNA	p.H184Y	NM_001039583.1|NM_001039584.1	NP_001034672.1|NP_001034673.1	Q9NRD5	PICK1_HUMAN			8	897	+	Melanoma(58;0.045)		184			AH.		B3KS52|O95906	Missense_Mutation	SNP	ENST00000404072.3	37	c.550C>T	CCDS13965.1	.	.	.	.	.	.	.	.	.	.	C	10.92	1.487317	0.26686	.	.	ENSG00000100151	ENST00000404072;ENST00000424694;ENST00000356976	T;T;T	0.76316	-1.01;-1.01;-1.01	5.18	5.18	0.71444	Arfaptin-like (3);	0.097314	0.64402	D	0.000001	T	0.65943	0.2740	N	0.11064	0.09	0.80722	D	1	B	0.31752	0.338	B	0.41440	0.357	T	0.61729	-0.7003	10	0.02654	T	1	-22.6937	19.0865	0.93204	0.0:1.0:0.0:0.0	.	184	Q9NRD5	PICK1_HUMAN	Y	184	ENSP00000385205:H184Y;ENSP00000398141:H184Y;ENSP00000349465:H184Y	ENSP00000349465:H184Y	H	+	1	0	PICK1	36797691	1.000000	0.71417	0.944000	0.38274	0.988000	0.76386	6.333000	0.72939	2.603000	0.88011	0.655000	0.94253	CAC		0.617	PICK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321569.2	NM_012407		17	106	0	0	0	1	0	17	106					T	38467745	C	T	38467745	3	4	50	1	0	0	0	0	1	0	0	0	11881	826	29	3	576	3	PICK1	22	38467745	Missense_Mutation	SNP	C	TCGA-EJ-5501-01A-01D-1576-08		38467745	12836821	27	2700											
KIF17	57576	broad.mit.edu	37	chr1	21031226	21031226	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggacgtgcttacagcgcccGtccaccagcgccgagatgac	8	5	13	15	5	0	2	0	1	0	1	1	4	1	3	4	1	4	1	4	1	1	1	rs142802323	byFrequency	TCGA-EJ-5502-01A-01D-1576-08	TCGA-EJ-5502-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97b6959f-ca52-42a1-900a-bb2174e31c17	561be685-9ad0-44b4-8c4f-dfbdcfbf68d6	g.chr1:21031226G>A	ENST00000247986.2	-	5	1147	c.837C>T	c.(835-837)gaC>gaT	p.D279D	KIF17_ENST00000400463.3_Silent_p.D279D|KIF17_ENST00000375044.1_Silent_p.D179D			Q9P2E2	KIF17_HUMAN	kinesin family member 17	279	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|cell projection organization (GO:0030030)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|neurogenesis (GO:0022008)|protein complex localization (GO:0031503)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|intraciliary transport particle B (GO:0030992)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|plus-end-directed microtubule motor activity (GO:0008574)			NS(2)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50		all_lung(284;2.99e-05)|Lung NSC(340;3.26e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|COAD - Colon adenocarcinoma(152;1.43e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000168)|Kidney(64;0.000221)|GBM - Glioblastoma multiforme(114;0.000651)|KIRC - Kidney renal clear cell carcinoma(64;0.0031)|STAD - Stomach adenocarcinoma(196;0.00336)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.209)		TACAGCGCCCGTCCACCAGCG	0.657													G|||	3	0.000599042	0.0023	0	5008	,	,		15320	0		0	False		,,,				2504	0					ENST00000247986.2																			0				NS(2)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50						c.(835-837)gaC>gaT		kinesin family member 17		G	,	3,4403	6.2+/-15.9	0,3,2200	80	78	79		837,837	-0.2	1	1	dbSNP_134	79	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	KIF17	NM_001122819.1,NM_020816.2	,	0,3,6500	AA,AG,GG		0.0,0.0681,0.0231	,	279/1029,279/1030	21031226	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	57576				microtubule-based movement|protein transport	cytoplasm|microtubule	ATP binding	g.chr1:21031226G>A	AB037826	CCDS213.1, CCDS44079.1, CCDS72722.1	1p36.13	2012-08-01			ENSG00000117245	ENSG00000117245		"Kinesins"	19167	protein-coding gene	gene with protein product	"kinesin-like protein KIF17", "KIF3-related motor protein", "KIF17 variant protein"	605037				10846156	Standard	XR_241202		Approved	KIAA1405, KIF3X, KIF17B, OSM-3, KLP-2	uc001bdr.4	Q9P2E2	OTTHUMG00000002863	ENST00000247986.2:c.837C>T	1.37:g.21031226G>A						KIF17_ENST00000375044.1_Silent_p.D179D|KIF17_ENST00000400463.3_Silent_p.D279D	p.D279D			Q9P2E2	KIF17_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|COAD - Colon adenocarcinoma(152;1.43e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000168)|Kidney(64;0.000221)|GBM - Glioblastoma multiforme(114;0.000651)|KIRC - Kidney renal clear cell carcinoma(64;0.0031)|STAD - Stomach adenocarcinoma(196;0.00336)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.209)	5	1147	-		all_lung(284;2.99e-05)|Lung NSC(340;3.26e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)	279					A2A3Q7|A2A3Q8|O95077|Q53YS6|Q5VWA9|Q6GSA8|Q8N411	Silent	SNP	ENST00000247986.2	37	c.837C>T	CCDS213.1																																																																																				0.657	KIF17-009	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276995.1	NM_020816		4	90	0	0	0	1	0	4	90					A	21031226	G	A	21031226	2	1	51	1	0	0	0	0	0	0	0	1	8279	1136	40	1		1	KIF17	1	21031226	Silent	SNP	G	TCGA-EJ-5502-01A-01D-1576-08		21031226	228219395	1	2701											
OTOF	9381	broad.mit.edu	37	chr2	26699845	26699845	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caggtccttggagggcacacGggcataggcgacacgcttgt	8	7	15	11	3	0	0	0	0	0	0	1	2	1	1	1	5	0	3	1	5	1	3	rs150070091		TCGA-EJ-5502-01A-01D-1576-08	TCGA-EJ-5502-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97b6959f-ca52-42a1-900a-bb2174e31c17	561be685-9ad0-44b4-8c4f-dfbdcfbf68d6	g.chr2:26699845G>A	ENST00000272371.2	-	22	2716	c.2590C>T	c.(2590-2592)Cgt>Tgt	p.R864C	OTOF_ENST00000402415.3_Missense_Mutation_p.R174C|OTOF_ENST00000339598.3_Missense_Mutation_p.R117C|OTOF_ENST00000403946.3_Missense_Mutation_p.R864C|OTOF_ENST00000338581.6_Missense_Mutation_p.R117C	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN	otoferlin	864					membrane fusion (GO:0061025)|sensory perception of sound (GO:0007605)|synaptic vesicle exocytosis (GO:0016079)	cell junction (GO:0030054)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synaptic vesicle membrane (GO:0030672)	calcium ion binding (GO:0005509)	p.R864C(1)|p.R117C(1)		NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GAGGGCACACGGGCATAGGCG	0.612																																					GBM(102;732 1451 20652 24062 31372)	ENST00000272371.2																			2	Substitution - Missense(2)	p.R864C(1)|p.R117C(1)	prostate(2)	NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106						c.(2590-2592)Cgt>Tgt		otoferlin		G	CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG	2,4386	6.2+/-15.9	0,2,2192	72	57	62		349,2590,520,349	3	1	2	dbSNP_134	62	0,8586		0,0,4293	no	missense,missense,missense,missense	OTOF	NM_004802.3,NM_194248.2,NM_194322.2,NM_194323.2	180,180,180,180	0,2,6485	AA,AG,GG		0.0,0.0456,0.0154	possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging	117/1231,864/1998,174/1308,117/1231	26699845	2,12972	2194	4293	6487	SO:0001583	missense	9381				cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis	basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane	calcium ion binding	g.chr2:26699845G>A	AF107403	CCDS1724.1, CCDS1725.1, CCDS1726.1, CCDS46241.1, CCDS74497.1	2p23.1	2014-06-27			ENSG00000115155	ENSG00000115155			8515	protein-coding gene	gene with protein product	"fer-1-like family member 2"	603681		DFNB9		10192385, 18381613	Standard	NM_194248		Approved	FER1L2, DFNB6	uc002rhk.3	Q9HC10	OTTHUMG00000096977	ENST00000272371.2:c.2590C>T	2.37:g.26699845G>A	ENSP00000272371:p.Arg864Cys					OTOF_ENST00000402415.3_Missense_Mutation_p.R174C|OTOF_ENST00000339598.3_Missense_Mutation_p.R117C|OTOF_ENST00000338581.6_Missense_Mutation_p.R117C|OTOF_ENST00000403946.3_Missense_Mutation_p.R864C	p.R864C	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN			22	2716	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		864					B4DJX0|B5MCC1|B9A0H6|Q53R90|Q9HC08|Q9HC09|Q9Y650	Missense_Mutation	SNP	ENST00000272371.2	37	c.2590C>T	CCDS1725.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.281295	0.80692	4.56E-4	0.0	ENSG00000115155	ENST00000338581;ENST00000339598;ENST00000402415;ENST00000272371;ENST00000403946	T;T;T;T;T	0.79554	-1.28;-1.28;-1.28;-1.28;-1.28	4.89	3.02	0.34903	Ferlin B-domain (1);	0.000000	0.85682	D	0.000000	D	0.91109	0.7201	M	0.92507	3.315	0.80722	D	1	D;D;D;D	0.76494	0.994;0.999;0.997;0.992	P;D;P;D	0.75484	0.714;0.986;0.867;0.969	D	0.91874	0.5510	10	0.87932	D	0	-22.081	13.2612	0.60106	0.0:0.0:0.711:0.289	.	864;117;174;117	Q9HC10;Q9HC10-2;Q9HC10-3;Q9HC10-4	OTOF_HUMAN;.;.;.	C	117;117;174;864;864	ENSP00000345137:R117C;ENSP00000344521:R117C;ENSP00000383906:R174C;ENSP00000272371:R864C;ENSP00000385255:R864C	ENSP00000272371:R864C	R	-	1	0	OTOF	26553349	1.000000	0.71417	0.989000	0.46669	0.887000	0.51463	4.799000	0.62517	0.425000	0.26087	0.498000	0.49722	CGT		0.612	OTOF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214047.3			6	59	0	0	0	1	0	6	59					A	26699845	G	A	26699845	3	1	51	1	0	0	0	0	1	0	0	0	11303	1116	39	2	3688	2	OTOF	2	26699845	Missense_Mutation	SNP	G	TCGA-EJ-5502-01A-01D-1576-08		26699845	216499528	2	2702											
C2orf78	388960	broad.mit.edu	37	chr2	74040747	74040747	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccatcagctcagcatggctaCagccatcagcctctggcacc	9	7	8	17	0	4	0	3	0	1	0	4	0	4	0	4	2	5	4	4	2	1	1			TCGA-EJ-5502-01A-01D-1576-08	TCGA-EJ-5502-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97b6959f-ca52-42a1-900a-bb2174e31c17	561be685-9ad0-44b4-8c4f-dfbdcfbf68d6	g.chr2:74040747C>A	ENST00000409561.1	+	2	362	c.241C>A	c.(241-243)Cag>Aag	p.Q81K		NM_001080474.1	NP_001073943.1	A6NCI8	CB078_HUMAN	chromosome 2 open reading frame 78	81	Ser-rich.							p.Q81K(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|soft_tissue(1)|urinary_tract(1)	34						AGCATGGCTACAGCCATCAGC	0.532																																						ENST00000409561.1																			1	Substitution - Missense(1)	p.Q81K(1)	prostate(1)	cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|soft_tissue(1)|urinary_tract(1)	34						c.(241-243)Cag>Aag		chromosome 2 open reading frame 78							53	55	54					2																	74040747		1993	4172	6165	SO:0001583	missense	388960							g.chr2:74040747C>A	AC092653, AC136006, AK125975	CCDS46338.1	2p13.2	2008-07-18			ENSG00000187833	ENSG00000187833			34349	protein-coding gene	gene with protein product							Standard	NM_001080474		Approved	FLJ43987, hCG1989538, COG5373	uc002sjr.1	A6NCI8	OTTHUMG00000152819	ENST00000409561.1:c.241C>A	2.37:g.74040747C>A	ENSP00000387124:p.Gln81Lys						p.Q81K	NM_001080474.1	NP_001073943.1	A6NCI8	CB078_HUMAN			2	362	+			81			Ser-rich.			Missense_Mutation	SNP	ENST00000409561.1	37	c.241C>A	CCDS46338.1	.	.	.	.	.	.	.	.	.	.	C	7.988	0.752627	0.15778	.	.	ENSG00000187833	ENST00000409561;ENST00000342345	T	0.30182	1.54	4.53	1.54	0.23209	.	0.320649	0.16931	U	0.193649	T	0.16727	0.0402	N	0.14661	0.345	0.19945	N	0.999945	B	0.30482	0.281	B	0.30316	0.114	T	0.16748	-1.0392	10	0.87932	D	0	-3.5182	7.1652	0.25687	0.0:0.6795:0.0:0.3205	.	81	A6NCI8	CB078_HUMAN	K	81	ENSP00000387124:Q81K	ENSP00000340692:Q81K	Q	+	1	0	C2orf78	73894255	0.061000	0.20836	0.404000	0.26397	0.010000	0.07245	0.127000	0.15790	0.173000	0.19788	-0.251000	0.11542	CAG		0.532	C2orf78-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000328083.1	NM_001080474		4	53	1	0	1.23904e-05	1	1.51882e-05	4	53					A	74040747	C	A	74040747	3	1	51	1	0	0	0	0	1	0	0	0	2195	479	17	5	247	5	C2orf78	2	74040747	Missense_Mutation	SNP	C	TCGA-EJ-5502-01A-01D-1576-08	47340902	74040747	169158626	3	2703											
LRP1B	53353	broad.mit.edu	37	chr2	141259355	141259355	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttctctcatctgaaccatcGccacagtcatccttattgtc	8	15	4	14	1	4	1	2	1	2	0	8	1	5	1	3	0	1	0	3	0	2	3	rs148504930		TCGA-EJ-5502-01A-01D-1576-08	TCGA-EJ-5502-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97b6959f-ca52-42a1-900a-bb2174e31c17	561be685-9ad0-44b4-8c4f-dfbdcfbf68d6	g.chr2:141259355G>A	ENST00000389484.3	-	55	9722	c.8751C>T	c.(8749-8751)ggC>ggT	p.G2917G		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	2917	LDL-receptor class A 20. {ECO:0000255|PROSITE-ProRule:PRU00124}.				protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)	p.G2917G(1)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CTGAACCATCGCCACAGTCAT	0.408										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	ENST00000389484.3																			1	Substitution - coding silent(1)	p.G2917G(1)	prostate(1)	NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606						c.(8749-8751)ggC>ggT		low density lipoprotein receptor-related protein 1B		G		0,4406		0,0,2203	104	103	103		8751	-9	0.8	2	dbSNP_134	103	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	LRP1B	NM_018557.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		2917/4600	141259355	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141259355G>A	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"Low density lipoprotein receptors"	6693	protein-coding gene	gene with protein product	"LRP-deleted in tumors"	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.8751C>T	2.37:g.141259355G>A		TSP Lung(27;0.18)					p.G2917G	NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)	55	9722	-		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)	2917			LDL-receptor class A 20.		Q8WY29|Q8WY30|Q8WY31	Silent	SNP	ENST00000389484.3	37	c.8751C>T	CCDS2182.1																																																																																				0.408	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		6	103	0	0	0	1	0	6	103					A	141259355	G	A	141259355	2	1	51	1	0	0	0	0	0	0	0	1	8955	1074	38	1		1	LRP1B	2	141259355	Silent	SNP	G	TCGA-EJ-5502-01A-01D-1576-08	67218608	141259355	101940018	4	2704											
PCDHB14	56122	broad.mit.edu	37	chr5	140605445	140605445	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgggggaaatcgagaactttCgaaatagctttggacttaac	13	11	11	6	2	0	1	0	0	0	1	2	5	0	3	0	3	3	1	0	3	5	4			TCGA-EJ-5502-01A-01D-1576-08	TCGA-EJ-5502-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97b6959f-ca52-42a1-900a-bb2174e31c17	561be685-9ad0-44b4-8c4f-dfbdcfbf68d6	g.chr5:140605445C>T	ENST00000239449.4	+	1	2368	c.2368C>T	c.(2368-2370)Cga>Tga	p.R790*	PCDHB14_ENST00000515856.2_Nonsense_Mutation_p.R637*	NM_018934.2	NP_061757.1	Q9Y5E9	PCDBE_HUMAN	protocadherin beta 14	790					calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.R790*(2)		NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(21)|ovary(2)|prostate(3)|skin(6)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CGAGAACTTTCGAAATAGCTT	0.343																																					Ovarian(141;50 1831 27899 33809 37648)	ENST00000239449.4																			2	Substitution - Nonsense(2)	p.R790*(2)	large_intestine(1)|prostate(1)	NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(21)|ovary(2)|prostate(3)|skin(6)|urinary_tract(1)	49						c.(2368-2370)Cga>Tga									66	73	71					5																	140605445		2203	4300	6503	SO:0001587	stop_gained	0				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140605445C>T	AF152493	CCDS4256.1	5q31	2010-01-26			ENSG00000120327	ENSG00000120327		"Cadherins / Protocadherins : Clustered"	8685	other	protocadherin		606340				10380929	Standard	NM_018934		Approved	PCDH-BETA14	uc003ljb.3	Q9Y5E9	OTTHUMG00000129619	ENST00000239449.4:c.2368C>T	5.37:g.140605445C>T	ENSP00000239449:p.Arg790*					PCDHB14_ENST00000515856.2_Nonsense_Mutation_p.R637*	p.R790*	NM_018934.2	NP_061757.1	Q9Y5E9	PCDBE_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	2368	+			790					B4DPE2|Q4FZA4|Q4KN11	Nonsense_Mutation	SNP	ENST00000239449.4	37	c.2368C>T	CCDS4256.1	.	.	.	.	.	.	.	.	.	.	-	19.03	3.748491	0.69533	.	.	ENSG00000120327	ENST00000515856;ENST00000239449	.	.	.	4.07	-0.837	0.10766	.	.	.	.	.	.	.	.	.	.	.	0.31292	N	0.689291	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.2849	0.37751	0.2957:0.5843:0.12:0.0	.	.	.	.	X	637;790	.	ENSP00000239449:R790X	R	+	1	2	PCDHB14	140585629	0.000000	0.05858	0.000000	0.03702	0.145000	0.21501	-1.168000	0.03123	-0.071000	0.12886	0.585000	0.79938	CGA		0.343	PCDHB14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251814.2	NM_018934		13	130	0	0	0	1	0	13	130					T	140605445	C	T	140605445	4	4	51	1	0	0	0	0	0	1	0	0	11539	876	31	2	2370	2	PCDHB14	5	140605445	Nonsense_Mutation	SNP	C	TCGA-EJ-5502-01A-01D-1576-08		140605445	40309815	5	2705											
NEFM	4741	broad.mit.edu	37	chr8	24775449	24775449	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggaagaggcaaagtcaaaagCagaagtggggaaaggtgaac	18	3	16	4	0	1	3	1	1	0	2	1	5	1	5	0	5	2	2	0	5	7	0			TCGA-EJ-5502-01A-01D-1576-08	TCGA-EJ-5502-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97b6959f-ca52-42a1-900a-bb2174e31c17	561be685-9ad0-44b4-8c4f-dfbdcfbf68d6	g.chr8:24775449C>A	ENST00000221166.5	+	3	2863	c.2081C>A	c.(2080-2082)gCa>gAa	p.A694E	NEFM_ENST00000433454.2_Missense_Mutation_p.A318E|NEFM_ENST00000437366.2_Missense_Mutation_p.A655E|NEFM_ENST00000521540.1_Intron|NEFM_ENST00000518131.1_Intron			P07197	NFM_HUMAN	neurofilament, medium polypeptide	694	Tail.				axon cargo transport (GO:0008088)|microtubule cytoskeleton organization (GO:0000226)|neurofilament bundle assembly (GO:0033693)|regulation of axon diameter (GO:0031133)	axon (GO:0030424)|neurofibrillary tangle (GO:0097418)|neurofilament (GO:0005883)|neuromuscular junction (GO:0031594)	microtubule binding (GO:0008017)|structural constituent of cytoskeleton (GO:0005200)			breast(3)|endometrium(7)|kidney(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|urinary_tract(1)	36		Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)		aagtcaaaagcagaagtgggg	0.448																																						ENST00000221166.5																			0				breast(3)|endometrium(7)|kidney(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|urinary_tract(1)	36						c.(2080-2082)gCa>gAa		neurofilament, medium polypeptide							55	61	59					8																	24775449		2203	4300	6503	SO:0001583	missense	4741					neurofilament	protein binding|structural constituent of cytoskeleton	g.chr8:24775449C>A	BC002421	CCDS6046.1, CCDS47831.1	8p21	2013-01-16	2008-09-19	2006-11-20	ENSG00000104722	ENSG00000104722		"Intermediate filaments type IV"	7734	protein-coding gene	gene with protein product		162250	"neurofilament, medium polypeptide 150kDa"	NEF3		1348579	Standard	NM_001105541		Approved	NFM, NF-M	uc003xed.4	P07197	OTTHUMG00000131990	ENST00000221166.5:c.2081C>A	8.37:g.24775449C>A	ENSP00000221166:p.Ala694Glu					NEFM_ENST00000437366.2_Missense_Mutation_p.A655E|NEFM_ENST00000521540.1_Intron|NEFM_ENST00000433454.2_Missense_Mutation_p.A318E|NEFM_ENST00000518131.1_Intron	p.A694E			P07197	NFM_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)	3	2863	+		Prostate(55;0.157)	694			Tail.		B4DGN2|E9PBF7|Q4QRK6	Missense_Mutation	SNP	ENST00000221166.5	37	c.2081C>A	CCDS6046.1	.	.	.	.	.	.	.	.	.	.	C	0.449	-0.894695	0.02491	.	.	ENSG00000104722	ENST00000221166;ENST00000437366;ENST00000433454	D;D;D	0.94000	-1.75;-1.71;-3.33	3.31	1.27	0.21489	.	1.034630	0.07695	N	0.939325	D	0.87164	0.6109	L	0.39898	1.24	0.21897	N	0.99949	B	0.06786	0.001	B	0.01281	0.0	T	0.69745	-0.5062	10	0.08837	T	0.75	.	5.5964	0.17329	0.3864:0.5152:0.0:0.0985	.	694	P07197	NFM_HUMAN	E	694;655;318	ENSP00000221166:A694E;ENSP00000410137:A655E;ENSP00000412295:A318E	ENSP00000221166:A694E	A	+	2	0	NEFM	24831354	0.001000	0.12720	0.001000	0.08648	0.559000	0.35586	0.288000	0.18939	-0.005000	0.14395	0.205000	0.17691	GCA		0.448	NEFM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254954.2	NM_005382		3	55	1	0	0.115264	1	0.128824	3	55					A	24775449	C	A	24775449	3	1	51	1	0	0	0	0	1	0	0	0	10316	710	25	5	2091	5	NEFM	8	24775449	Missense_Mutation	SNP	C	TCGA-EJ-5502-01A-01D-1576-08		24775449	121588573	6	2706											
FZD3	7976	broad.mit.edu	37	chr8	28385111	28385111	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tataaggcttccacagtgacAcaaggatctcataataaagc	16	9	7	9	0	1	1	1	1	1	0	3	2	2	2	1	2	1	1	1	2	6	5			TCGA-EJ-5502-01A-01D-1576-08	TCGA-EJ-5502-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97b6959f-ca52-42a1-900a-bb2174e31c17	561be685-9ad0-44b4-8c4f-dfbdcfbf68d6	g.chr8:28385111A>T	ENST00000240093.3	+	5	1312	c.834A>T	c.(832-834)acA>acT	p.T278T	RNA5SP259_ENST00000365541.1_RNA|FZD3_ENST00000537916.1_Silent_p.T278T	NM_017412.3	NP_059108.1	Q9NPG1	FZD3_HUMAN	frizzled class receptor 3	278					canonical Wnt signaling pathway (GO:0060070)|cell proliferation in midbrain (GO:0033278)|commissural neuron axon guidance (GO:0071679)|establishment of planar polarity (GO:0001736)|facial nucleus development (GO:0021754)|G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:0007199)|gonad development (GO:0008406)|hair follicle development (GO:0001942)|inner ear morphogenesis (GO:0042472)|neural tube closure (GO:0001843)|neuron differentiation (GO:0030182)|neuron migration (GO:0001764)|post-anal tail morphogenesis (GO:0036342)|vasculature development (GO:0001944)	apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)|neuron projection membrane (GO:0032589)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)	p.T278T(1)		central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(15)|ovary(1)|prostate(1)|skin(1)	41		Ovarian(32;2.06e-05)		KIRC - Kidney renal clear cell carcinoma(542;0.109)|Kidney(114;0.13)|Colorectal(74;0.23)		CCACAGTGACACAAGGATCTC	0.388																																						ENST00000240093.3																			1	Substitution - coding silent(1)	p.T278T(1)	prostate(1)	central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(15)|ovary(1)|prostate(1)|skin(1)	41						c.(832-834)acA>acT		frizzled family receptor 3							89	90	90					8																	28385111		2203	4300	6503	SO:0001819	synonymous_variant	7976				canonical Wnt receptor signaling pathway|cell proliferation in midbrain|commissural neuron axon guidance|establishment of planar polarity|facial nucleus development|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|inner ear morphogenesis|neural tube closure|vasculature development	apical part of cell|axon|cytoplasm|dendrite|integral to membrane|neuron projection membrane|neuronal cell body|presynaptic active zone	G-protein coupled receptor activity|PDZ domain binding|Wnt-protein binding	g.chr8:28385111A>T	AJ272427	CCDS6069.1	8p21	2014-06-27	2014-01-29		ENSG00000104290	ENSG00000104290		"GPCR / Class F : Frizzled receptors"	4041	protein-coding gene	gene with protein product		606143	"frizzled (Drosophila) homolog 3", "frizzled homolog 3 (Drosophila)", "frizzled 3, seven transmembrane spanning receptor", "frizzled family receptor 3"			10777673, 10873558	Standard	NM_145866		Approved		uc010lvb.3	Q9NPG1	OTTHUMG00000102145	ENST00000240093.3:c.834A>T	8.37:g.28385111A>T						FZD3_ENST00000537916.1_Silent_p.T278T	p.T278T	NM_017412.3	NP_059108.1	Q9NPG1	FZD3_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.109)|Kidney(114;0.13)|Colorectal(74;0.23)	5	1312	+		Ovarian(32;2.06e-05)	278					A8K615	Silent	SNP	ENST00000240093.3	37	c.834A>T	CCDS6069.1																																																																																				0.388	FZD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219986.2	NM_145866		9	206	0	0	0	1	0	9	206					T	28385111	A	T	28385111	2	4	51	1	0	0	0	0	0	0	0	1	6131	146	6	5		5	FZD3	8	28385111	Silent	SNP	A	TCGA-EJ-5502-01A-01D-1576-08	3609662	28385111	117978911	7	2707											
CLVS1	157807	broad.mit.edu	37	chr8	62212651	62212651	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ccaggaagtttcaccaagcgGatgcctttagactcctggct	9	10	10	12	1	1	1	1	0	0	1	2	3	2	3	4	3	2	2	4	3	3	3			TCGA-EJ-5502-01A-01D-1576-08	TCGA-EJ-5502-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97b6959f-ca52-42a1-900a-bb2174e31c17	561be685-9ad0-44b4-8c4f-dfbdcfbf68d6	g.chr8:62212651G>T	ENST00000519846.1	+	3	737	c.265G>T	c.(265-267)Gat>Tat	p.D89Y	CLVS1_ENST00000518592.1_Intron|RP11-787D18.1_ENST00000518064.1_RNA|CLVS1_ENST00000325897.4_Missense_Mutation_p.D89Y|RP11-787D18.1_ENST00000521801.1_RNA			Q8IUQ0	CLVS1_HUMAN	clavesin 1	89					lysosome organization (GO:0007040)	clathrin-coated vesicle (GO:0030136)|endosome (GO:0005768)|membrane (GO:0016020)|trans-Golgi network (GO:0005802)	phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|transporter activity (GO:0005215)	p.D89Y(1)		endometrium(3)|kidney(4)|large_intestine(4)|lung(21)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						TCACCAAGCGGATGCCTTTAG	0.483																																						ENST00000519846.1																			1	Substitution - Missense(1)	p.D89Y(1)	prostate(1)	endometrium(3)|kidney(4)|large_intestine(4)|lung(21)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						c.(265-267)Gat>Tat		clavesin 1							92	82	85					8																	62212651		2203	4300	6503	SO:0001583	missense	157807				lysosome organization	clathrin-coated vesicle|early endosome membrane|trans-Golgi network	phosphatidylinositol-3,5-bisphosphate binding|transporter activity	g.chr8:62212651G>T	AY094971	CCDS6176.1	8q12.1	2009-10-14	2009-10-14	2009-10-14		ENSG00000177182			23139	protein-coding gene	gene with protein product		611292	"retinaldehyde binding protein 1-like 1"	RLBP1L1		16802092, 19651769	Standard	NM_173519		Approved	MGC34646, CRALBPL, C6orf212L	uc003xuh.3	Q8IUQ0		ENST00000519846.1:c.265G>T	8.37:g.62212651G>T	ENSP00000428402:p.Asp89Tyr					CLVS1_ENST00000325897.4_Missense_Mutation_p.D89Y|CLVS1_ENST00000518592.1_Intron	p.D89Y			Q8IUQ0	CLVS1_HUMAN			3	737	+			89					B2R7M5|C8UZT3|Q8NB32	Missense_Mutation	SNP	ENST00000519846.1	37	c.265G>T	CCDS6176.1	.	.	.	.	.	.	.	.	.	.	G	23.3	4.402229	0.83230	.	.	ENSG00000177182	ENST00000519846;ENST00000325897	D;D	0.86297	-2.1;-2.1	5.79	4.92	0.64577	Phosphatidylinositol transfer protein-like, N-terminal (1);Cellular retinaldehyde-binding/triple function, N-terminal (1);	0.104606	0.64402	D	0.000005	D	0.88654	0.6495	L	0.38175	1.15	0.51767	D	0.999932	P;D	0.58970	0.917;0.984	P;P	0.61592	0.612;0.891	D	0.87521	0.2446	9	.	.	.	-4.8864	14.6939	0.69107	0.0691:0.0:0.9309:0.0	.	89;89	Q8IUQ0;Q8IUQ0-2	CLVS1_HUMAN;.	Y	89	ENSP00000428402:D89Y;ENSP00000325506:D89Y	.	D	+	1	0	CLVS1	62375205	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.869000	0.99810	1.466000	0.48025	0.655000	0.94253	GAT		0.483	CLVS1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378323.1	NM_173519		5	91	1	0	0.0215528	1	0.0255939	5	91					T	62212651	G	T	62212651	3	4	51	1	0	0	0	0	1	0	0	0	3571	1174	41	5	267	5	CLVS1	8	62212651	Missense_Mutation	SNP	G	TCGA-EJ-5502-01A-01D-1576-08	33827540	62212651	84151371	8	2708											
ZFPM2	23414	broad.mit.edu	37	chr8	106814115	106814115	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gagtcccaacactggccaaaCctccataaaccttctcaacc	13	7	4	17	0	1	0	1	0	1	0	4	1	3	0	6	1	4	0	6	1	5	2			TCGA-EJ-5502-01A-01D-1576-08	TCGA-EJ-5502-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97b6959f-ca52-42a1-900a-bb2174e31c17	561be685-9ad0-44b4-8c4f-dfbdcfbf68d6	g.chr8:106814115C>T	ENST00000407775.2	+	8	2055	c.1805C>T	c.(1804-1806)aCc>aTc	p.T602I	RP11-152P17.2_ENST00000521622.1_RNA|ZFPM2_ENST00000378472.4_Missense_Mutation_p.T333I|ZFPM2_ENST00000522296.1_3'UTR|RP11-152P17.2_ENST00000518932.1_RNA|RP11-152P17.2_ENST00000520594.1_RNA|ZFPM2_ENST00000520492.1_Missense_Mutation_p.T470I|ZFPM2_ENST00000517361.1_Missense_Mutation_p.T470I|RP11-152P17.2_ENST00000509144.2_RNA|RP11-152P17.2_ENST00000520433.1_RNA|RP11-152P17.2_ENST00000524045.2_RNA	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	zinc finger protein, FOG family member 2	602					blood coagulation (GO:0007596)|embryonic organ development (GO:0048568)|gonadal mesoderm development (GO:0007506)|in utero embryonic development (GO:0001701)|lung development (GO:0030324)|negative regulation of cell death (GO:0060548)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of female gonad development (GO:2000195)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract septum morphogenesis (GO:0003148)|positive regulation of male gonad development (GO:2000020)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|right ventricular cardiac muscle tissue morphogenesis (GO:0003221)|vasculogenesis (GO:0001570)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|nucleic acid binding transcription factor activity (GO:0001071)|RNA polymerase II transcription coactivator activity (GO:0001105)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.T602I(1)		NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			ACTGGCCAAACCTCCATAAAC	0.458																																						ENST00000407775.2																			1	Substitution - Missense(1)	p.T602I(1)	prostate(1)	NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99						c.(1804-1806)aCc>aTc		zinc finger protein, FOG family member 2							114	114	114					8																	106814115		1948	4157	6105	SO:0001583	missense	23414				blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding	g.chr8:106814115C>T	AF119334	CCDS47908.1	8q23	2013-01-10	2012-11-27		ENSG00000169946	ENSG00000169946		"Zinc fingers, C2H2-type", "Zinc fingers, C2HC-type containing"	16700	protein-coding gene	gene with protein product		603693	"zinc finger protein, multitype 2"			9927675, 10438528	Standard	NM_012082		Approved	FOG2, hFOG-2, ZNF89B, ZC2HC11B	uc003ymd.3	Q8WW38	OTTHUMG00000164818	ENST00000407775.2:c.1805C>T	8.37:g.106814115C>T	ENSP00000384179:p.Thr602Ile					ZFPM2_ENST00000378472.4_Missense_Mutation_p.T333I|ZFPM2_ENST00000517361.1_Missense_Mutation_p.T470I|RP11-152P17.2_ENST00000509144.2_RNA|RP11-152P17.2_ENST00000520594.1_RNA|ZFPM2_ENST00000522296.1_3'UTR|RP11-152P17.2_ENST00000521622.1_RNA|RP11-152P17.2_ENST00000520433.1_RNA|RP11-152P17.2_ENST00000524045.2_RNA|RP11-152P17.2_ENST00000518932.1_RNA|ZFPM2_ENST00000520492.1_Missense_Mutation_p.T470I	p.T602I	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)		8	2055	+			602					Q32MA6|Q9NPL7|Q9NPS4|Q9UNI5	Missense_Mutation	SNP	ENST00000407775.2	37	c.1805C>T	CCDS47908.1	.	.	.	.	.	.	.	.	.	.	C	10.72	1.428815	0.25726	.	.	ENSG00000169946	ENST00000407775;ENST00000520492;ENST00000517361;ENST00000378472	T;T;T;T	0.19938	2.11;2.57;2.57;3.8	5.74	3.89	0.44902	.	0.320986	0.36555	N	0.002538	T	0.10465	0.0256	N	0.14661	0.345	0.46901	D	0.999248	B	0.34103	0.437	B	0.28638	0.092	T	0.12967	-1.0527	10	0.49607	T	0.09	.	7.4748	0.27369	0.3488:0.4232:0.2281:0.0	.	602	Q8WW38	FOG2_HUMAN	I	602;470;470;333	ENSP00000384179:T602I;ENSP00000430757:T470I;ENSP00000428720:T470I;ENSP00000367733:T333I	ENSP00000367733:T333I	T	+	2	0	ZFPM2	106883291	0.904000	0.30761	0.986000	0.45419	0.985000	0.73830	0.781000	0.26774	1.424000	0.47217	0.655000	0.94253	ACC		0.458	ZFPM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380614.1			16	179	0	0	0	1	0	16	179					T	106814115	C	T	106814115	3	4	51	1	0	0	0	0	1	0	0	0	17655	507	18	3	1835	3	ZFPM2	8	106814115	Missense_Mutation	SNP	C	TCGA-EJ-5502-01A-01D-1576-08	44601464	106814115	39549907	9	2709											
HSD17B3	3293	broad.mit.edu	37	chr9	99015189	99015189	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcacactcctccctgtagtcCgctctacacgagagacaaca	11	8	6	16	2	2	1	1	0	1	1	5	3	5	1	3	0	2	2	3	0	3	2	rs539588932		TCGA-EJ-5502-01A-01D-1576-08	TCGA-EJ-5502-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97b6959f-ca52-42a1-900a-bb2174e31c17	561be685-9ad0-44b4-8c4f-dfbdcfbf68d6	g.chr9:99015189C>T	ENST00000375263.3	-	4	328	c.281G>A	c.(280-282)cGg>cAg	p.R94Q	HSD17B3_ENST00000464104.1_5'Flank|HSD17B3_ENST00000375262.2_Missense_Mutation_p.R94Q|RP11-240L7.4_ENST00000448857.1_RNA	NM_000197.1	NP_000188.1	P37058	DHB3_HUMAN	hydroxysteroid (17-beta) dehydrogenase 3	94					androgen biosynthetic process (GO:0006702)|male genitalia development (GO:0030539)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|testosterone biosynthetic process (GO:0061370)	endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)	testosterone 17-beta-dehydrogenase (NADP+) activity (GO:0047045)	p.R94Q(1)		breast(1)|endometrium(3)|large_intestine(2)|lung(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	13		Acute lymphoblastic leukemia(62;0.0171)|all_hematologic(171;0.214)				CCCTGTAGTCCGCTCTACACG	0.423																																						ENST00000375263.3																			1	Substitution - Missense(1)	p.R94Q(1)	prostate(1)	breast(1)|endometrium(3)|large_intestine(2)|lung(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	13						c.(280-282)cGg>cAg		hydroxysteroid (17-beta) dehydrogenase 3	NADH(DB00157)						129	126	127					9																	99015189		2203	4300	6503	SO:0001583	missense	3293				androgen biosynthetic process|male genitalia development	endoplasmic reticulum membrane|microsome	binding|testosterone 17-beta-dehydrogenase (NAD+) activity|testosterone 17-beta-dehydrogenase (NADP+) activity	g.chr9:99015189C>T		CCDS6716.1	9q22	2011-09-20			ENSG00000130948	ENSG00000130948	1.1.1.62	"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3"	5212	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 12C, member 2"	605573				8075637, 19027726	Standard	NM_000197		Approved	SDR12C2	uc004awa.1	P37058	OTTHUMG00000020292	ENST00000375263.3:c.281G>A	9.37:g.99015189C>T	ENSP00000364412:p.Arg94Gln					HSD17B3_ENST00000375262.2_Missense_Mutation_p.R94Q	p.R94Q	NM_000197.1	NP_000188.1	P37058	DHB3_HUMAN			4	328	-		Acute lymphoblastic leukemia(62;0.0171)|all_hematologic(171;0.214)	94					Q5U0Q6	Missense_Mutation	SNP	ENST00000375263.3	37	c.281G>A	CCDS6716.1	.	.	.	.	.	.	.	.	.	.	C	6.463	0.453581	0.12283	.	.	ENSG00000130948	ENST00000375263;ENST00000375262	D;D	0.92805	-3.11;-1.96	4.31	-3.62	0.04543	NAD(P)-binding domain (1);	2.312810	0.01436	N	0.014932	T	0.79221	0.4409	N	0.04387	-0.21	0.09310	N	1	B;B	0.06786	0.0;0.001	B;B	0.13407	0.009;0.002	T	0.71573	-0.4552	10	0.17369	T	0.5	13.4107	4.3768	0.11274	0.2525:0.2808:0.0:0.4667	.	94;94	Q5U0Q6;P37058	.;DHB3_HUMAN	Q	94	ENSP00000364412:R94Q;ENSP00000364411:R94Q	ENSP00000364411:R94Q	R	-	2	0	HSD17B3	98055010	0.000000	0.05858	0.000000	0.03702	0.018000	0.09664	-0.655000	0.05348	-0.799000	0.04439	-0.137000	0.14449	CGG		0.423	HSD17B3-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053259.1	NM_000197		15	288	0	0	0	1	0	15	288					T	99015189	C	T	99015189	3	4	51	1	0	0	0	0	1	0	0	0	7385	652	23	2	683	2	HSD17B3	9	99015189	Missense_Mutation	SNP	C	TCGA-EJ-5502-01A-01D-1576-08		99015189	42198242	10	2710											
USP20	10868	broad.mit.edu	37	chr9	132641857	132641857	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ctgtgtctgttgcagagcccCccgggcccattgacaacagc	7	8	11	15	1	1	2	0	1	1	1	1	2	1	2	4	1	4	2	4	1	1	2			TCGA-EJ-5502-01A-01D-1576-08	TCGA-EJ-5502-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97b6959f-ca52-42a1-900a-bb2174e31c17	561be685-9ad0-44b4-8c4f-dfbdcfbf68d6	g.chr9:132641857C>T	ENST00000315480.4	+	24	2676	c.2518C>T	c.(2518-2520)Ccc>Tcc	p.P840S	USP20_ENST00000472108.1_3'UTR|USP20_ENST00000358355.1_Missense_Mutation_p.P840S|USP20_ENST00000372429.3_Missense_Mutation_p.P840S			Q9Y2K6	UBP20_HUMAN	ubiquitin specific peptidase 20	840	DUSP 2. {ECO:0000255|PROSITE- ProRule:PRU00613}.				endocytosis (GO:0006897)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|ubiquitin-dependent protein catabolic process (GO:0006511)	centrosome (GO:0005813)|cytoplasm (GO:0005737)	cysteine-type endopeptidase activity (GO:0004197)|G-protein coupled receptor binding (GO:0001664)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|large_intestine(3)|lung(4)|urinary_tract(1)	11		Ovarian(14;0.00556)				TGCAGAGCCCCCCGGGCCCAT	0.662																																						ENST00000315480.4																			0				breast(1)|endometrium(2)|large_intestine(3)|lung(4)|urinary_tract(1)	11						c.(2518-2520)Ccc>Tcc		ubiquitin specific peptidase 20							57	66	63					9																	132641857		2005	4164	6169	SO:0001583	missense	0				endocytosis|protein K48-linked deubiquitination|protein K63-linked deubiquitination|regulation of G-protein coupled receptor protein signaling pathway|ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm	cysteine-type endopeptidase activity|G-protein-coupled receptor binding|ubiquitin thiolesterase activity|zinc ion binding	g.chr9:132641857C>T	AB023220	CCDS43892.1	9q34.2	2014-07-15	2005-08-08		ENSG00000136878	ENSG00000136878		"Ubiquitin-specific peptidases"	12619	protein-coding gene	gene with protein product		615143	"ubiquitin specific protease 20"			12838346	Standard	NM_006676		Approved	KIAA1003	uc004byr.3	Q9Y2K6	OTTHUMG00000020793	ENST00000315480.4:c.2518C>T	9.37:g.132641857C>T	ENSP00000313811:p.Pro840Ser					USP20_ENST00000472108.1_3'UTR|USP20_ENST00000358355.1_Missense_Mutation_p.P840S|USP20_ENST00000372429.3_Missense_Mutation_p.P840S	p.P840S			Q9Y2K6	UBP20_HUMAN			24	2676	+		Ovarian(14;0.00556)	840			DUSP 2.		Q541F1|Q8IXQ1|Q96LG5|Q9UQN8|Q9UQP0	Missense_Mutation	SNP	ENST00000315480.4	37	c.2518C>T	CCDS43892.1	.	.	.	.	.	.	.	.	.	.	C	23.8	4.453740	0.84209	.	.	ENSG00000136878	ENST00000372429;ENST00000315480;ENST00000358355	T;T;T	0.26810	1.71;1.71;1.71	5.03	5.03	0.67393	Peptidase C19, ubiquitin-specific peptidase, DUSP domain (3);	0.114202	0.64402	D	0.000015	T	0.49150	0.1540	H	0.94620	3.56	0.80722	D	1	P	0.45672	0.864	P	0.44359	0.447	T	0.67432	-0.5672	10	0.87932	D	0	.	17.7054	0.88308	0.0:1.0:0.0:0.0	.	840	Q9Y2K6	UBP20_HUMAN	S	840	ENSP00000361506:P840S;ENSP00000313811:P840S;ENSP00000351122:P840S	ENSP00000313811:P840S	P	+	1	0	USP20	131681678	1.000000	0.71417	0.990000	0.47175	0.957000	0.61999	7.305000	0.78891	2.498000	0.84270	0.655000	0.94253	CCC		0.662	USP20-003	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054604.2			5	81	0	0	0	1	0	5	81					T	132641857	C	T	132641857	3	4	51	1	0	0	0	0	1	0	0	0	17049	623	22	3	2604	3	USP20	9	132641857	Missense_Mutation	SNP	C	TCGA-EJ-5502-01A-01D-1576-08	33626668	132641857	8571574	11	2711											
ACBD7	414149	broad.mit.edu	37	chr10	15120540	15120540	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgctgtattctaaattccgtAtttttctatcagctcctttg	7	20	5	9	1	3	0	1	0	2	0	5	0	5	0	2	0	2	4	2	0	5	9			TCGA-EJ-5502-01A-01D-1576-08	TCGA-EJ-5502-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97b6959f-ca52-42a1-900a-bb2174e31c17	561be685-9ad0-44b4-8c4f-dfbdcfbf68d6	g.chr10:15120540A>C	ENST00000356189.5	-	4	303	c.256T>G	c.(256-258)Tac>Gac	p.Y86D	ACBD7_ENST00000496890.1_5'UTR	NM_001039844.2	NP_001034933.1	Q8N6N7	ACBD7_HUMAN	acyl-CoA binding domain containing 7	86	ACB. {ECO:0000255|PROSITE- ProRule:PRU00573}.						fatty-acyl-CoA binding (GO:0000062)|lipid binding (GO:0008289)	p.Y86D(1)		endometrium(1)|lung(4)|prostate(1)	6						TAAATTCCGTATTTTTCTATC	0.393																																						ENST00000356189.5																			1	Substitution - Missense(1)	p.Y86D(1)	prostate(1)	endometrium(1)|lung(4)|prostate(1)	6						c.(256-258)Tac>Gac		acyl-CoA binding domain containing 7							142	149	147					10																	15120540		2203	4300	6503	SO:0001583	missense	414149						fatty-acyl-CoA binding	g.chr10:15120540A>C	AK095538	CCDS31153.1	10p13	2010-08-05	2010-04-30		ENSG00000176244	ENSG00000176244			17715	protein-coding gene	gene with protein product			"acyl-Coenzyme A binding domain containing 7"				Standard	NM_001039844		Approved	FLJ38219, bA455B2.2	uc010qby.1	Q8N6N7	OTTHUMG00000017725	ENST00000356189.5:c.256T>G	10.37:g.15120540A>C	ENSP00000367453:p.Tyr86Asp					ACBD7_ENST00000496890.1_5'UTR	p.Y86D	NM_001039844.2	NP_001034933.1	Q8N6N7	ACBD7_HUMAN			4	303	-			86			ACB.		A6NCI2|B3KTG8	Missense_Mutation	SNP	ENST00000356189.5	37	c.256T>G	CCDS31153.1	.	.	.	.	.	.	.	.	.	.	a	12.71	2.019271	0.35606	.	.	ENSG00000176244	ENST00000356189	T	0.19250	2.16	4.72	3.57	0.40892	FERM/acyl-CoA-binding protein, 3-helical bundle (1);Acyl-CoA-binding protein, ACBP (3);	0.069679	0.64402	N	0.000016	T	0.21307	0.0513	.	.	.	0.53005	D	0.999961	B	0.27700	0.186	B	0.32724	0.151	T	0.04607	-1.0939	9	0.87932	D	0	-21.5336	10.5031	0.44817	0.8378:0.1622:0.0:0.0	.	86	Q8N6N7	ACBD7_HUMAN	D	86	ENSP00000367453:Y86D	ENSP00000367453:Y86D	Y	-	1	0	ACBD7	15160546	1.000000	0.71417	0.996000	0.52242	0.608000	0.37181	3.627000	0.54252	0.813000	0.34350	0.459000	0.35465	TAC		0.393	ACBD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046972.2			20	212	0	0	0	1	0	20	212					C	15120540	A	C	15120540	3	2	51	1	0	0	0	0	1	0	0	0	127	449	16	5	14	5	ACBD7	10	15120540	Missense_Mutation	SNP	A	TCGA-EJ-5502-01A-01D-1576-08		15120540	120414207	12	2712											
CARS	833	broad.mit.edu	37	chr11	3059393	3059393	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttcgagcatctgctttttatCgggatccgtggtctcattta	6	17	9	9	3	2	0	1	0	2	0	6	2	3	1	1	2	2	2	1	2	2	6	rs35902209		TCGA-EJ-5502-01A-01D-1576-08	TCGA-EJ-5502-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97b6959f-ca52-42a1-900a-bb2174e31c17	561be685-9ad0-44b4-8c4f-dfbdcfbf68d6	g.chr11:3059393C>T	ENST00000397111.5	-	6	684	c.439G>A	c.(439-441)Gat>Aat	p.D147N	CARS_ENST00000278224.9_Missense_Mutation_p.D147N|CARS-AS1_ENST00000499962.1_RNA|CARS_ENST00000401769.3_Missense_Mutation_p.D160N|CARS_ENST00000397114.3_Missense_Mutation_p.D137N|CARS_ENST00000380525.4_Missense_Mutation_p.D230N			P49589	SYCC_HUMAN	cysteinyl-tRNA synthetase	147					cysteinyl-tRNA aminoacylation (GO:0006423)|gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|cysteine-tRNA ligase activity (GO:0004817)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|tRNA binding (GO:0000049)		CARS/ALK(5)	central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)	31		all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)		BRCA - Breast invasive adenocarcinoma(625;0.00317)|LUSC - Lung squamous cell carcinoma(625;0.218)	L-Cysteine(DB00151)	TGCTTTTTATCGGGATCCGTG	0.448			T	ALK	ALCL						OREG0020690	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									Ovarian(61;932 1157 5961 20446 52152)	ENST00000397114.3				Dom	yes		11	11p15.5	833	T	cysteinyl-tRNA synthetase			L	ALK		ALCL	CARS/ALK(5)	0				central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)	31						c.(409-411)Gat>Aat		cysteinyl-tRNA synthetase	L-Cysteine(DB00151)						152	144	147					11																	3059393		2202	4298	6500	SO:0001583	missense	833				cysteinyl-tRNA aminoacylation	cytoplasm|cytosol	ATP binding|cysteine-tRNA ligase activity|metal ion binding|protein homodimerization activity|tRNA binding	g.chr11:3059393C>T	AF288207	CCDS7742.1, CCDS41600.1, CCDS41602.1	11p15.5	2011-07-01			ENSG00000110619	ENSG00000110619	6.1.1.16	"Aminoacyl tRNA synthetases / Class I"	1493	protein-coding gene	gene with protein product	"cysteine tRNA ligase 1, cytoplasmic"	123859				8468064	Standard	NM_139273		Approved	CARS1	uc001lxf.3	P49589	OTTHUMG00000010927	ENST00000397111.5:c.439G>A	11.37:g.3059393C>T	ENSP00000380300:p.Asp147Asn		OREG0020690	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	608	CARS_ENST00000278224.9_Missense_Mutation_p.D147N|CARS_ENST00000380525.4_Missense_Mutation_p.D230N|CARS_ENST00000401769.3_Missense_Mutation_p.D160N|CARS_ENST00000397111.5_Missense_Mutation_p.D147N|CARS-AS1_ENST00000499962.1_RNA	p.D137N			P49589	SYCC_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00317)|LUSC - Lung squamous cell carcinoma(625;0.218)	7	785	-		all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)	147					Q53XI8|Q5HYE4|Q9HD24|Q9HD25	Missense_Mutation	SNP	ENST00000397111.5	37	c.409G>A	CCDS7742.1	.	.	.	.	.	.	.	.	.	.	C	15.59	2.878612	0.51801	.	.	ENSG00000110619	ENST00000380525;ENST00000397111;ENST00000278224;ENST00000397114;ENST00000401769	T;T;T;T;T	0.46063	0.88;0.9;0.9;0.89;0.88	3.86	1.83	0.25207	Rossmann-like alpha/beta/alpha sandwich fold (1);	0.054959	0.64402	N	0.000001	T	0.60314	0.2259	M	0.79693	2.465	0.58432	D	0.999995	P;D;D;D;D;D	0.89917	0.902;0.996;1.0;1.0;0.999;1.0	P;D;D;D;D;D	0.97110	0.479;0.928;0.996;1.0;0.957;0.996	T	0.56408	-0.7984	10	0.36615	T	0.2	-23.4026	8.9223	0.35619	0.0:0.8033:0.0:0.1967	rs35902209	160;230;147;147;230;137	B4DKY1;B4DPV7;P49589;P49589-2;Q5HYE4;A8MVQ3	.;.;SYCC_HUMAN;.;.;.	N	230;147;147;137;160	ENSP00000369897:D230N;ENSP00000380300:D147N;ENSP00000278224:D147N;ENSP00000380303:D137N;ENSP00000384069:D160N	ENSP00000278224:D147N	D	-	1	0	CARS	3015969	0.999000	0.42202	0.400000	0.26346	0.130000	0.20726	4.169000	0.58223	0.238000	0.21222	-0.367000	0.07326	GAT		0.448	CARS-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000030117.4	NM_001751		5	248	0	0	0	1	0	5	248					T	3059393	C	T	3059393	3	4	51	1	0	0	0	0	1	0	0	0	2657	884	31	2	1883	2	CARS	11	3059393	Missense_Mutation	SNP	C	TCGA-EJ-5502-01A-01D-1576-08		3059393	131947123	13	2713											
RAG1	5896	broad.mit.edu	37	chr11	36597450	36597450	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agctcatgaccaaagagactGtggatgcagtttgtgagtta	12	11	12	6	0	1	3	1	2	0	1	1	5	1	4	1	1	2	4	1	1	2	2			TCGA-EJ-5502-01A-01D-1576-08	TCGA-EJ-5502-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97b6959f-ca52-42a1-900a-bb2174e31c17	561be685-9ad0-44b4-8c4f-dfbdcfbf68d6	g.chr11:36597450G>A	ENST00000299440.5	+	2	2708	c.2596G>A	c.(2596-2598)Gtg>Atg	p.V866M		NM_000448.2	NP_000439	P15918	RAG1_HUMAN	recombination activating gene 1	866					adaptive immune response (GO:0002250)|B cell differentiation (GO:0030183)|DNA recombination (GO:0006310)|histone monoubiquitination (GO:0010390)|immune response (GO:0006955)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of thymocyte apoptotic process (GO:0070244)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|pre-B cell allelic exclusion (GO:0002331)|protein autoubiquitination (GO:0051865)|regulation of T cell differentiation (GO:0045580)|T cell differentiation in thymus (GO:0033077)|T cell homeostasis (GO:0043029)|thymus development (GO:0048538)|V(D)J recombination (GO:0033151)	nucleus (GO:0005634)	acid-amino acid ligase activity (GO:0016881)|DNA binding (GO:0003677)|endonuclease activity (GO:0004519)|histone binding (GO:0042393)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding (GO:0043565)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.V866M(2)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	65	all_lung(20;0.226)	all_hematologic(20;0.107)				CAAAGAGACTGTGGATGCAGT	0.493									Familial Hemophagocytic Lymphohistiocytosis																												Pancreas(43;321 1249 3212 48200)|Esophageal Squamous(38;49 1003 17530 24363)	ENST00000299440.5																			2	Substitution - Missense(2)	p.V866M(2)	prostate(2)	NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	65						c.(2596-2598)Gtg>Atg		recombination activating gene 1							122	117	119					11																	36597450		2202	4298	6500	SO:0001583	missense	5896	Familial Hemophagocytic Lymphohistiocytosis	Familial Cancer Database	FHLH, FHL, Familial Hemophagocytic Reticulosis, FHR	histone monoubiquitination|immune response|pre-B cell allelic exclusion|protein autoubiquitination|T cell differentiation in thymus|V(D)J recombination	nucleus	endonuclease activity|histone binding|protein homodimerization activity|sequence-specific DNA binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr11:36597450G>A	M29474	CCDS7902.1	11p13	2014-09-17				ENSG00000166349		"RING-type (C3HC4) zinc fingers"	9831	protein-coding gene	gene with protein product	"recombination activating protein 1", "RING finger protein 74", "V(D)J recombination-activating protein 1"	179615				1612612, 1283330	Standard	NM_000448		Approved	RNF74, MGC43321	uc001mwu.4	P15918		ENST00000299440.5:c.2596G>A	11.37:g.36597450G>A	ENSP00000299440:p.Val866Met						p.V866M	NM_000448.2	NP_000439.1	P15918	RAG1_HUMAN			2	2708	+	all_lung(20;0.226)	all_hematologic(20;0.107)	866					E9PPC4|Q8IY72|Q8NER2	Missense_Mutation	SNP	ENST00000299440.5	37	c.2596G>A	CCDS7902.1	.	.	.	.	.	.	.	.	.	.	G	15.44	2.833728	0.50951	.	.	ENSG00000166349	ENST00000534663;ENST00000299440	D;D	0.87729	-2.29;-2.29	5.85	5.85	0.93711	.	0.000000	0.85682	D	0.000000	D	0.94355	0.8185	M	0.83012	2.62	0.80722	D	1	D	0.76494	0.999	D	0.85130	0.997	D	0.94332	0.7563	10	0.87932	D	0	.	20.2311	0.98348	0.0:0.0:1.0:0.0	.	866	P15918	RAG1_HUMAN	M	866	ENSP00000434610:V866M;ENSP00000299440:V866M	ENSP00000299440:V866M	V	+	1	0	RAG1	36554026	1.000000	0.71417	0.313000	0.25210	0.340000	0.28889	7.635000	0.83286	2.784000	0.95788	0.579000	0.79373	GTG		0.493	RAG1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389535.1	NM_000448		8	116	0	0	0	1	0	8	116					A	36597450	G	A	36597450	3	1	51	1	0	0	0	0	1	0	0	0	13003	1377	48	3	2598	3	RAG1	11	36597450	Missense_Mutation	SNP	G	TCGA-EJ-5502-01A-01D-1576-08	33538057	36597450	98409066	14	2714											
UACA	55075	broad.mit.edu	37	chr15	70959403	70959403	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgtttagtattctgaaccTccgactgaagtttggagact	9	15	9	8	1	1	3	0	2	1	1	2	5	2	3	2	1	1	3	2	1	4	6			TCGA-EJ-5502-01A-01D-1576-08	TCGA-EJ-5502-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97b6959f-ca52-42a1-900a-bb2174e31c17	561be685-9ad0-44b4-8c4f-dfbdcfbf68d6	g.chr15:70959403T>A	ENST00000322954.6	-	16	3805	c.3620A>T	c.(3619-3621)gAg>gTg	p.E1207V	UACA_ENST00000560441.1_Missense_Mutation_p.E1192V|UACA_ENST00000379983.2_Missense_Mutation_p.E1194V|UACA_ENST00000539319.1_Missense_Mutation_p.E1098V	NM_018003.2	NP_060473.2	Q9BZF9	UACA_HUMAN	uveal autoantigen with coiled-coil domains and ankyrin repeats	1207					intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|negative regulation of inflammatory response (GO:0050728)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of protein import into nucleus (GO:0042307)|response to UV (GO:0009411)	apoptosome (GO:0043293)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)				breast(2)|endometrium(7)|kidney(4)|large_intestine(13)|lung(17)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	50						ATTCTGAACCTCCGACTGAAG	0.348																																						ENST00000322954.6																			0				breast(2)|endometrium(7)|kidney(4)|large_intestine(13)|lung(17)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	50						c.(3619-3621)gAg>gTg		uveal autoantigen with coiled-coil domains and ankyrin repeats							112	108	109					15																	70959403		2199	4297	6496	SO:0001583	missense	55075					cytoskeleton|extracellular region		g.chr15:70959403T>A	AF322916	CCDS10235.1, CCDS32280.1	15q22-q24	2013-01-10			ENSG00000137831	ENSG00000137831		"Ankyrin repeat domain containing"	15947	protein-coding gene	gene with protein product		612516				11162650, 10997877	Standard	NM_001008224		Approved	FLJ10128, KIAA1561	uc002asr.3	Q9BZF9	OTTHUMG00000133363	ENST00000322954.6:c.3620A>T	15.37:g.70959403T>A	ENSP00000314556:p.Glu1207Val					UACA_ENST00000560441.1_Missense_Mutation_p.E1192V|UACA_ENST00000539319.1_Missense_Mutation_p.E1098V|UACA_ENST00000379983.2_Missense_Mutation_p.E1194V	p.E1207V	NM_018003.2	NP_060473.2	Q9BZF9	UACA_HUMAN			16	3805	-			1207					G3XAG2|Q14DD3|Q8N3B8|Q96NH6|Q9HCL1|Q9NWC6	Missense_Mutation	SNP	ENST00000322954.6	37	c.3620A>T	CCDS10235.1	.	.	.	.	.	.	.	.	.	.	T	18.52	3.640752	0.67244	.	.	ENSG00000137831	ENST00000322954;ENST00000379983;ENST00000539319	T;T;T	0.42513	0.97;0.97;1.44	5.66	5.66	0.87406	.	0.000000	0.64402	D	0.000006	T	0.62841	0.2461	M	0.74881	2.28	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;1.0;1.0	D;D;D;D	0.91635	0.986;0.959;0.959;0.999	T	0.66716	-0.5853	10	0.72032	D	0.01	-31.0371	11.0137	0.47677	0.0:0.0722:0.0:0.9278	.	1098;1207;1207;1194	F5H2B9;B7ZKM6;Q9BZF9;G3XAG2	.;.;UACA_HUMAN;.	V	1207;1194;1098	ENSP00000314556:E1207V;ENSP00000369319:E1194V;ENSP00000438667:E1098V	ENSP00000314556:E1207V	E	-	2	0	UACA	68746457	1.000000	0.71417	0.853000	0.33588	0.970000	0.65996	4.568000	0.60857	2.153000	0.67306	0.533000	0.62120	GAG		0.348	UACA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257199.2			6	262	0	0	0	1	0	6	262					A	70959403	T	A	70959403	3	1	51	1	0	0	0	0	1	0	0	0	16821	1551	54	5	646	5	UACA	15	70959403	Missense_Mutation	SNP	T	TCGA-EJ-5502-01A-01D-1576-08		70959403	31571989	15	2715											
ZNF423	23090	broad.mit.edu	37	chr16	49660162	49660162	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cttgatgcactggtatgtctTtttctgtttggaaaccaaaa	10	16	8	7	0	2	1	0	1	2	0	2	2	2	2	1	2	2	3	1	2	4	5			TCGA-EJ-5502-01A-01D-1576-08	TCGA-EJ-5502-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97b6959f-ca52-42a1-900a-bb2174e31c17	561be685-9ad0-44b4-8c4f-dfbdcfbf68d6	g.chr16:49660162T>C	ENST00000561648.1	-	5	3549	c.3496A>G	c.(3496-3498)Aag>Gag	p.K1166E	ZNF423_ENST00000535559.1_Missense_Mutation_p.K1049E|ZNF423_ENST00000567169.1_Missense_Mutation_p.K1049E|ZNF423_ENST00000562871.1_Missense_Mutation_p.K1106E|ZNF423_ENST00000563137.2_Missense_Mutation_p.K1106E|ZNF423_ENST00000562520.1_Missense_Mutation_p.K1106E|ZNF423_ENST00000262383.2_Missense_Mutation_p.K1166E	NM_001271620.1	NP_001258549.1	Q2M1K9	ZN423_HUMAN	zinc finger protein 423	1166					cell differentiation (GO:0030154)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	89		all_cancers(37;0.0155)				TGGTATGTCTTTTTCTGTTTG	0.448																																						ENST00000561648.1																			0				breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	89						c.(3496-3498)Aag>Gag		zinc finger protein 423							238	213	221					16																	49660162		2199	4300	6499	SO:0001583	missense	23090				cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	g.chr16:49660162T>C	AB018303	CCDS32445.1, CCDS61930.1	16q12	2014-01-28				ENSG00000102935		"Zinc fingers, C2H2-type"	16762	protein-coding gene	gene with protein product	"OLF-1/EBF associated zinc finger gene", " Smad- and Olf-interacting zinc finger protein", "early B-cell factor associated zinc finger protein"	604557				9872452, 10660046	Standard	NM_001271620		Approved	KIAA0760, OAZ, Roaz, Ebfaz, Zfp104, NPHP14, JBTS19	uc031qwd.1	Q2M1K9		ENST00000561648.1:c.3496A>G	16.37:g.49660162T>C	ENSP00000455426:p.Lys1166Glu					ZNF423_ENST00000562871.1_Missense_Mutation_p.K1106E|ZNF423_ENST00000562520.1_Missense_Mutation_p.K1106E|ZNF423_ENST00000567169.1_Missense_Mutation_p.K1049E|ZNF423_ENST00000262383.2_Missense_Mutation_p.K1166E|ZNF423_ENST00000535559.1_Missense_Mutation_p.K1049E|ZNF423_ENST00000563137.2_Missense_Mutation_p.K1106E	p.K1166E	NM_001271620.1	NP_001258549.1	Q2M1K9	ZN423_HUMAN			5	3549	-		all_cancers(37;0.0155)	1166					O94860|Q76N04|Q9NZ13	Missense_Mutation	SNP	ENST00000561648.1	37	c.3496A>G	CCDS32445.1	.	.	.	.	.	.	.	.	.	.	T	22.5	4.299102	0.81025	.	.	ENSG00000102935	ENST00000262383;ENST00000535559	T;T	0.39056	1.1;1.1	4.81	4.81	0.61882	.	0.000000	0.85682	D	0.000000	T	0.52092	0.1713	L	0.34521	1.04	0.48975	D	0.99973	D	0.69078	0.997	D	0.81914	0.995	T	0.48801	-0.9003	9	.	.	.	-17.3382	14.7046	0.69179	0.0:0.0:0.0:1.0	.	1166	Q2M1K9	ZN423_HUMAN	E	1166;1049	ENSP00000262383:K1166E;ENSP00000442321:K1049E	.	K	-	1	0	ZNF423	48217663	1.000000	0.71417	1.000000	0.80357	0.929000	0.56500	7.648000	0.83479	1.943000	0.56356	0.254000	0.18369	AAG		0.448	ZNF423-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000423258.1	NM_015069		6	306	0	0	0	1	0	6	306					C	49660162	T	C	49660162	3	2	51	1	0	0	0	0	1	0	0	0	17895	1850	64	4	374	4	ZNF423	16	49660162	Missense_Mutation	SNP	T	TCGA-EJ-5502-01A-01D-1576-08		49660162	40694591	16	2716											
ACAP1	9744	broad.mit.edu	37	chr17	7240074	7240074	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atgacggtcaagctggatttCgaggagtgtctcaaggactc	10	10	13	8	2	2	1	2	1	1	0	5	5	2	4	0	4	1	1	0	4	2	1	rs191833549		TCGA-EJ-5502-01A-01D-1576-08	TCGA-EJ-5502-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97b6959f-ca52-42a1-900a-bb2174e31c17	561be685-9ad0-44b4-8c4f-dfbdcfbf68d6	g.chr17:7240074C>T	ENST00000158762.3	+	1	227	c.21C>T	c.(19-21)ttC>ttT	p.F7F		NM_014716.3	NP_055531.1	Q15027	ACAP1_HUMAN	ArfGAP with coiled-coil, ankyrin repeat and PH domains 1	7	BAR.|Required for formation of endosomal tubules when overexpressed with PIP5K1C.				protein transport (GO:0015031)|regulation of ARF GTPase activity (GO:0032312)	endosome (GO:0005768)|membrane (GO:0016020)	ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|cervix(3)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|prostate(3)|skin(1)|urinary_tract(1)	33						AGCTGGATTTCGAGGAGTGTC	0.612													C|||	1	0.000199681	0	0.0014	5008	,	,		16021	0		0	False		,,,				2504	0					ENST00000158762.3																			0				NS(1)|breast(5)|cervix(3)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|prostate(3)|skin(1)|urinary_tract(1)	33						c.(19-21)ttC>ttT		ArfGAP with coiled-coil, ankyrin repeat and PH domains 1		C		0,4406		0,0,2203	87	81	83		21	-11.1	0.6	17		83	5,8595	4.3+/-15.6	0,5,4295	no	coding-synonymous	ACAP1	NM_014716.3		0,5,6498	TT,TC,CC		0.0581,0.0,0.0384		7/741	7240074	5,13001	2203	4300	6503	SO:0001819	synonymous_variant	9744				intracellular signal transduction|lipid metabolic process|protein transport|regulation of ARF GTPase activity		ARF GTPase activator activity|phospholipase C activity|protein binding|zinc ion binding	g.chr17:7240074C>T	D30758	CCDS11101.1	17p13.1	2013-01-11	2008-09-22	2008-09-22	ENSG00000072818	ENSG00000072818		"ADP-ribosylation factor GTPase activating proteins", "Pleckstrin homology (PH) domain containing", "Ankyrin repeat domain containing"	16467	protein-coding gene	gene with protein product		607763	"centaurin, beta 1"	CENTB1		11050434, 11062263	Standard	NM_014716		Approved	KIAA0050	uc002ggd.2	Q15027	OTTHUMG00000102199	ENST00000158762.3:c.21C>T	17.37:g.7240074C>T							p.F7F	NM_014716.3	NP_055531.1	Q15027	ACAP1_HUMAN			1	227	+			7			BAR.|Required for formation of endosomal tubules when overexpressed with PIP5K1C.		Q53XN9	Silent	SNP	ENST00000158762.3	37	c.21C>T	CCDS11101.1																																																																																				0.612	ACAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000220049.4	NM_014716		4	107	0	0	0	1	0	4	107					T	7240074	C	T	7240074	2	4	51	1	0	0	0	0	0	0	0	1	118	883	31	2		2	ACAP1	17	7240074	Silent	SNP	C	TCGA-EJ-5502-01A-01D-1576-08		7240074	73955136	17	2717											
TOP2A	7153	broad.mit.edu	37	chr17	38557125	38557126	+	Missense_Mutation	DNP	CC	CC	AA																															tggcaaaggttcttctccatCcatcaaacgcctgatgttat																										TCGA-EJ-5502-01A-01D-1576-08	TCGA-EJ-5502-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97b6959f-ca52-42a1-900a-bb2174e31c17	561be685-9ad0-44b4-8c4f-dfbdcfbf68d6	g.chr17:38557125_38557126CC>AA	ENST00000423485.1	-	21	2798_2799	c.2640_2641GG>TT	c.(2638-2643)atGGat>atTTat	p.880_881MD>IY		NM_001067.3	NP_001058.2	P11388	TOP2A_HUMAN	topoisomerase (DNA) II alpha 170kDa	880					apoptotic chromosome condensation (GO:0030263)|ATP catabolic process (GO:0006200)|cellular response to DNA damage stimulus (GO:0006974)|chromosome segregation (GO:0007059)|DNA ligation (GO:0006266)|DNA topological change (GO:0006265)|DNA unwinding involved in DNA replication (GO:0006268)|embryonic cleavage (GO:0040016)|hematopoietic progenitor cell differentiation (GO:0002244)|mitotic cell cycle (GO:0000278)|mitotic DNA integrity checkpoint (GO:0044774)|mitotic recombination (GO:0006312)|positive regulation of apoptotic process (GO:0043065)|positive regulation of single stranded viral RNA replication via double stranded DNA intermediate (GO:0045870)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of viral genome replication (GO:0045070)|resolution of meiotic recombination intermediates (GO:0000712)|sister chromatid segregation (GO:0000819)	condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|DNA topoisomerase complex (ATP-hydrolyzing) (GO:0009330)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA binding, bending (GO:0008301)|DNA topoisomerase type II (ATP-hydrolyzing) activity (GO:0003918)|DNA-dependent ATPase activity (GO:0008094)|drug binding (GO:0008144)|enzyme binding (GO:0019899)|histone deacetylase binding (GO:0042826)|magnesium ion binding (GO:0000287)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase C binding (GO:0005080)|ubiquitin binding (GO:0043130)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(9)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	39		Breast(137;0.00328)	STAD - Stomach adenocarcinoma(5;0.00183)		Amsacrine(DB00276)|Ciprofloxacin(DB00537)|Dactinomycin(DB00970)|Daunorubicin(DB00694)|Dexrazoxane(DB00380)|Doxorubicin(DB00997)|Enoxacin(DB00467)|Epirubicin(DB00445)|Etoposide(DB00773)|Fleroxacin(DB04576)|Idarubicin(DB01177)|Levofloxacin(DB01137)|Lomefloxacin(DB00978)|Lucanthone(DB04967)|Mitoxantrone(DB01204)|Moxifloxacin(DB00218)|Norfloxacin(DB01059)|Ofloxacin(DB01165)|Pefloxacin(DB00487)|Podofilox(DB01179)|Sparfloxacin(DB01208)|Teniposide(DB00444)|Trovafloxacin(DB00685)|Valrubicin(DB00385)	TCTTCTCCATCCATCAAACGCC	0.401																																						ENST00000423485.1																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(9)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	39						c.(2641-2643)Gat>Tat|c.(2638-2640)atG>atT		topoisomerase (DNA) II alpha 170kDa	Amsacrine(DB00276)|Ciprofloxacin(DB00537)|Dexrazoxane(DB00380)|Doxorubicin(DB00997)|Enoxacin(DB00467)|Epirubicin(DB00445)|Etoposide(DB00773)|Fleroxacin(DB04576)|Gatifloxacin(DB01044)|Idarubicin(DB01177)|Levofloxacin(DB01137)|Lomefloxacin(DB00978)|Lucanthone(DB04967)|Mitoxantrone(DB01204)|Moxifloxacin(DB00218)|Norfloxacin(DB01059)|Ofloxacin(DB01165)|Pefloxacin(DB00487)|Podofilox(DB01179)|Sparfloxacin(DB01208)|Teniposide(DB00444)|Trovafloxacin(DB00685)|Valrubicin(DB00385)																																			SO:0001583	missense	7153				apoptotic chromosome condensation|DNA ligation|DNA repair|DNA topological change|DNA-dependent DNA replication|mitotic cell cycle G2/M transition decatenation checkpoint|mitotic recombination|phosphatidylinositol-mediated signaling|positive regulation of apoptosis|positive regulation of retroviral genome replication|resolution of meiotic recombination intermediates|sister chromatid segregation	cytoplasm|DNA topoisomerase complex (ATP-hydrolyzing)|nucleolus|nucleoplasm|synaptonemal complex	ATP binding|chromatin binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA-dependent ATPase activity|drug binding|histone deacetylase binding|protein C-terminus binding|protein heterodimerization activity|protein homodimerization activity|protein kinase C binding|sequence-specific DNA binding transcription factor activity|ubiquitin binding	g.chr17:38557125C>A|g.chr17:38557126C>A		CCDS45672.1	17q21-q22	2008-08-06	2002-08-29		ENSG00000131747	ENSG00000131747	5.99.1.2		11989	protein-coding gene	gene with protein product		126430	"topoisomerase (DNA) II alpha (170kD)"	TOP2			Standard	NM_001067		Approved		uc002huq.3	P11388	OTTHUMG00000155008	ENST00000423485.1:c.2640_2641delinsAA	17.37:g.38557125_38557126delinsAA	ENSP00000411532:p.M880_D881delinsIY						p.D881Y|p.M880I	NM_001067.3	NP_001058.2	P11388	TOP2A_HUMAN	STAD - Stomach adenocarcinoma(5;0.00183)		21	2799|2798	-		Breast(137;0.00328)	881|880					B2RTS1|Q71UN1|Q71UQ5|Q9HB24|Q9HB25|Q9HB26|Q9UP44|Q9UQP9	Missense_Mutation	SNP	ENST00000423485.1	37	c.2641G>T|c.2640G>T	CCDS45672.1																																																																																				0.401	TOP2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338035.1			9|8	456	1	0	0.307466|0.0477658	1	0.324547|0.055003	8	456					AA	38557126	CC	AA	38557125	3	1	51	1	0	0	0	0	1	0	0	0	16362	855	30	5	2014	5	TOP2A	17	38557125	Missense_Mutation	DNP	CC	TCGA-EJ-5502-01A-01D-1576-08	31317051	38557125	42638085	18	2718											
TOP2A	7153	broad.mit.edu	37	chr17	38564345	38564345	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	gctgaatctccctcagtcagGataagcgtacactcagtgga	11	9	10	11	1	4	1	3	1	1	0	5	3	4	3	1	2	2	2	1	2	3	2			TCGA-EJ-5502-01A-01D-1576-08	TCGA-EJ-5502-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97b6959f-ca52-42a1-900a-bb2174e31c17	561be685-9ad0-44b4-8c4f-dfbdcfbf68d6	g.chr17:38564345G>C	ENST00000423485.1	-	12	1532	c.1374C>G	c.(1372-1374)atC>atG	p.I458M		NM_001067.3	NP_001058.2	P11388	TOP2A_HUMAN	topoisomerase (DNA) II alpha 170kDa	458	Toprim. {ECO:0000255|PROSITE- ProRule:PRU00995}.				apoptotic chromosome condensation (GO:0030263)|ATP catabolic process (GO:0006200)|cellular response to DNA damage stimulus (GO:0006974)|chromosome segregation (GO:0007059)|DNA ligation (GO:0006266)|DNA topological change (GO:0006265)|DNA unwinding involved in DNA replication (GO:0006268)|embryonic cleavage (GO:0040016)|hematopoietic progenitor cell differentiation (GO:0002244)|mitotic cell cycle (GO:0000278)|mitotic DNA integrity checkpoint (GO:0044774)|mitotic recombination (GO:0006312)|positive regulation of apoptotic process (GO:0043065)|positive regulation of single stranded viral RNA replication via double stranded DNA intermediate (GO:0045870)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of viral genome replication (GO:0045070)|resolution of meiotic recombination intermediates (GO:0000712)|sister chromatid segregation (GO:0000819)	condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|DNA topoisomerase complex (ATP-hydrolyzing) (GO:0009330)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA binding, bending (GO:0008301)|DNA topoisomerase type II (ATP-hydrolyzing) activity (GO:0003918)|DNA-dependent ATPase activity (GO:0008094)|drug binding (GO:0008144)|enzyme binding (GO:0019899)|histone deacetylase binding (GO:0042826)|magnesium ion binding (GO:0000287)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase C binding (GO:0005080)|ubiquitin binding (GO:0043130)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(9)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	39		Breast(137;0.00328)	STAD - Stomach adenocarcinoma(5;0.00183)		Amsacrine(DB00276)|Ciprofloxacin(DB00537)|Dactinomycin(DB00970)|Daunorubicin(DB00694)|Dexrazoxane(DB00380)|Doxorubicin(DB00997)|Enoxacin(DB00467)|Epirubicin(DB00445)|Etoposide(DB00773)|Fleroxacin(DB04576)|Idarubicin(DB01177)|Levofloxacin(DB01137)|Lomefloxacin(DB00978)|Lucanthone(DB04967)|Mitoxantrone(DB01204)|Moxifloxacin(DB00218)|Norfloxacin(DB01059)|Ofloxacin(DB01165)|Pefloxacin(DB00487)|Podofilox(DB01179)|Sparfloxacin(DB01208)|Teniposide(DB00444)|Trovafloxacin(DB00685)|Valrubicin(DB00385)	CCTCAGTCAGGATAAGCGTAC	0.393																																						ENST00000423485.1																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(9)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	39						c.(1372-1374)atC>atG		topoisomerase (DNA) II alpha 170kDa	Amsacrine(DB00276)|Ciprofloxacin(DB00537)|Dexrazoxane(DB00380)|Doxorubicin(DB00997)|Enoxacin(DB00467)|Epirubicin(DB00445)|Etoposide(DB00773)|Fleroxacin(DB04576)|Gatifloxacin(DB01044)|Idarubicin(DB01177)|Levofloxacin(DB01137)|Lomefloxacin(DB00978)|Lucanthone(DB04967)|Mitoxantrone(DB01204)|Moxifloxacin(DB00218)|Norfloxacin(DB01059)|Ofloxacin(DB01165)|Pefloxacin(DB00487)|Podofilox(DB01179)|Sparfloxacin(DB01208)|Teniposide(DB00444)|Trovafloxacin(DB00685)|Valrubicin(DB00385)						54	51	52					17																	38564345		1842	4084	5926	SO:0001583	missense	7153				apoptotic chromosome condensation|DNA ligation|DNA repair|DNA topological change|DNA-dependent DNA replication|mitotic cell cycle G2/M transition decatenation checkpoint|mitotic recombination|phosphatidylinositol-mediated signaling|positive regulation of apoptosis|positive regulation of retroviral genome replication|resolution of meiotic recombination intermediates|sister chromatid segregation	cytoplasm|DNA topoisomerase complex (ATP-hydrolyzing)|nucleolus|nucleoplasm|synaptonemal complex	ATP binding|chromatin binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA-dependent ATPase activity|drug binding|histone deacetylase binding|protein C-terminus binding|protein heterodimerization activity|protein homodimerization activity|protein kinase C binding|sequence-specific DNA binding transcription factor activity|ubiquitin binding	g.chr17:38564345G>C		CCDS45672.1	17q21-q22	2008-08-06	2002-08-29		ENSG00000131747	ENSG00000131747	5.99.1.2		11989	protein-coding gene	gene with protein product		126430	"topoisomerase (DNA) II alpha (170kD)"	TOP2			Standard	NM_001067		Approved		uc002huq.3	P11388	OTTHUMG00000155008	ENST00000423485.1:c.1374C>G	17.37:g.38564345G>C	ENSP00000411532:p.Ile458Met						p.I458M	NM_001067.3	NP_001058.2	P11388	TOP2A_HUMAN	STAD - Stomach adenocarcinoma(5;0.00183)		12	1532	-		Breast(137;0.00328)	458					B2RTS1|Q71UN1|Q71UQ5|Q9HB24|Q9HB25|Q9HB26|Q9UP44|Q9UQP9	Missense_Mutation	SNP	ENST00000423485.1	37	c.1374C>G	CCDS45672.1	.	.	.	.	.	.	.	.	.	.	G	17.43	3.387014	0.61956	.	.	ENSG00000131747	ENST00000423485;ENST00000269577;ENST00000348049;ENST00000357601	T	0.28069	1.63	5.36	3.39	0.38822	DNA topoisomerase, type IIA, subunit B/N-terminal, alpha-beta (1);DNA topoisomerase, type IIA, central (1);DNA topoisomerase, type IIA, subunit B/N-terminal (2);	0.000000	0.85682	D	0.000000	T	0.63651	0.2529	H	0.96208	3.785	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	T	0.67945	-0.5539	10	0.87932	D	0	.	8.1406	0.31080	0.3034:0.0:0.6966:0.0	.	458	P11388	TOP2A_HUMAN	M	458;538;481;494	ENSP00000411532:I458M	ENSP00000269577:I538M	I	-	3	3	TOP2A	35817871	1.000000	0.71417	1.000000	0.80357	0.932000	0.56968	2.144000	0.42197	0.658000	0.30925	0.591000	0.81541	ATC		0.393	TOP2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338035.1			4	85	0	0	0	1	0	4	85					C	38564345	G	C	38564345	3	2	51	1	0	0	0	0	1	0	0	0	16362	1164	41	5	3317	5	TOP2A	17	38564345	Missense_Mutation	SNP	G	TCGA-EJ-5502-01A-01D-1576-08	7220	38564345	42630865	19	2719											
COG1	9382	broad.mit.edu	37	chr17	71192740	71192740	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gatctggagctcgatggaagCctctcagtgtctccacgcca	8	9	11	13	2	3	0	1	0	3	0	6	4	3	2	3	2	2	1	3	2	1	0			TCGA-EJ-5502-01A-01D-1576-08	TCGA-EJ-5502-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97b6959f-ca52-42a1-900a-bb2174e31c17	561be685-9ad0-44b4-8c4f-dfbdcfbf68d6	g.chr17:71192740C>A	ENST00000299886.4	+	2	490	c.410C>A	c.(409-411)gCc>gAc	p.A137D	RP11-143K11.5_ENST00000580671.1_RNA	NM_018714.2	NP_061184.1	Q8WTW3	COG1_HUMAN	component of oligomeric golgi complex 1	137					Golgi organization (GO:0007030)|intra-Golgi vesicle-mediated transport (GO:0006891)|protein transport (GO:0015031)	Golgi apparatus (GO:0005794)|Golgi transport complex (GO:0017119)|membrane (GO:0016020)				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18			LUSC - Lung squamous cell carcinoma(166;0.197)			TCGATGGAAGCCTCTCAGTGT	0.562																																						ENST00000299886.4																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						c.(409-411)gCc>gAc		component of oligomeric golgi complex 1							133	133	133					17																	71192740		2203	4300	6503	SO:0001583	missense	9382				Golgi organization|intra-Golgi vesicle-mediated transport|protein transport	Golgi membrane|Golgi transport complex	protein binding	g.chr17:71192740C>A		CCDS11692.1	17q25.1	2008-05-14	2002-05-28	2002-05-31		ENSG00000166685		"Components of oligomeric golgi complex"	6545	protein-coding gene	gene with protein product		606973	"low density lipoprotein receptor defect B complementing"	LDLB		9927668	Standard	NM_018714		Approved	KIAA1381	uc002jjg.3	Q8WTW3		ENST00000299886.4:c.410C>A	17.37:g.71192740C>A	ENSP00000299886:p.Ala137Asp						p.A137D	NM_018714.2	NP_061184.1	Q8WTW3	COG1_HUMAN	LUSC - Lung squamous cell carcinoma(166;0.197)		2	490	+			137					Q9NPV9|Q9P2G6	Missense_Mutation	SNP	ENST00000299886.4	37	c.410C>A	CCDS11692.1	.	.	.	.	.	.	.	.	.	.	C	14.69	2.609260	0.46527	.	.	ENSG00000166685	ENST00000438720;ENST00000299886	T;T	0.23950	1.88;1.88	4.9	4.9	0.64082	.	0.116036	0.56097	D	0.000024	T	0.27134	0.0665	L	0.38531	1.155	0.54753	D	0.999988	D;P;D	0.54964	0.969;0.839;0.969	P;B;P	0.49752	0.621;0.372;0.621	T	0.01472	-1.1346	10	0.13108	T	0.6	-11.7544	15.4294	0.75081	0.0:0.8613:0.1387:0.0	.	137;137;137	E9PBL8;Q8WTW3;Q4G0L8	.;COG1_HUMAN;.	D	137	ENSP00000400111:A137D;ENSP00000299886:A137D	ENSP00000299886:A137D	A	+	2	0	COG1	68704335	1.000000	0.71417	0.999000	0.59377	0.979000	0.70002	3.320000	0.51991	2.547000	0.85894	0.655000	0.94253	GCC		0.562	COG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441638.1			5	190	1	0	1.23904e-05	1	1.51882e-05	5	190					A	71192740	C	A	71192740	3	1	51	1	0	0	0	0	1	0	0	0	3657	739	26	5	416	5	COG1	17	71192740	Missense_Mutation	SNP	C	TCGA-EJ-5502-01A-01D-1576-08	32628395	71192740	10002470	20	2720											
OR7A17	26333	broad.mit.edu	37	chr19	14991753	14991753	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aaccaggagtccacagagccGagggttcatgatgactgtgt	11	8	13	9	1	1	3	1	2	0	1	2	5	2	4	3	2	2	1	3	2	1	1	rs375822511		TCGA-EJ-5502-01A-01D-1576-08	TCGA-EJ-5502-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97b6959f-ca52-42a1-900a-bb2174e31c17	561be685-9ad0-44b4-8c4f-dfbdcfbf68d6	g.chr19:14991753G>A	ENST00000327462.2	-	1	511	c.415C>T	c.(415-417)Cgg>Tgg	p.R139W		NM_030901.1	NP_112163.1	O14581	OR7AH_HUMAN	olfactory receptor, family 7, subfamily A, member 17	139						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R139W(1)		breast(1)|cervix(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)	12	Ovarian(108;0.203)					CCACAGAGCCGAGGGTTCATG	0.498																																						ENST00000327462.2																			1	Substitution - Missense(1)	p.R139W(1)	prostate(1)	breast(1)|cervix(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)	12						c.(415-417)Cgg>Tgg		olfactory receptor, family 7, subfamily A, member 17		G	TRP/ARG	5,4401	9.9+/-24.2	0,5,2198	112	108	109		415	-6.6	0	19		109	0,8600		0,0,4300	no	missense	OR7A17	NM_030901.1	101	0,5,6498	AA,AG,GG		0.0,0.1135,0.0384	benign	139/310	14991753	5,13001	2203	4300	6503	SO:0001583	missense	26333				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr19:14991753G>A	X64993	CCDS12319.1	19p13.12	2012-08-09				ENSG00000185385		"GPCR / Class A : Olfactory receptors"	8363	protein-coding gene	gene with protein product						1370859	Standard	NM_030901		Approved	HTPCRX19	uc010xob.2	O14581		ENST00000327462.2:c.415C>T	19.37:g.14991753G>A	ENSP00000328144:p.Arg139Trp						p.R139W	NM_030901.1	NP_112163.1	O14581	OR7AH_HUMAN			1	511	-	Ovarian(108;0.203)		139					Q6IFQ6|Q96R98	Missense_Mutation	SNP	ENST00000327462.2	37	c.415C>T	CCDS12319.1	.	.	.	.	.	.	.	.	.	.	g	7.931	0.740668	0.15642	0.001135	0.0	ENSG00000185385	ENST00000327462	T	0.42900	0.96	3.3	-6.6	0.01824	GPCR, rhodopsin-like superfamily (1);	0.225743	0.19321	U	0.117126	T	0.25865	0.0630	L	0.53561	1.675	0.09310	N	1	B	0.16166	0.016	B	0.23275	0.045	T	0.14008	-1.0488	10	0.35671	T	0.21	.	1.8301	0.03128	0.1736:0.1113:0.277:0.438	.	139	O14581	OR7AH_HUMAN	W	139	ENSP00000328144:R139W	ENSP00000328144:R139W	R	-	1	2	OR7A17	14852753	0.000000	0.05858	0.000000	0.03702	0.065000	0.16274	-2.348000	0.01094	-1.428000	0.01989	-0.883000	0.02948	CGG		0.498	OR7A17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466523.1	NM_030901		14	135	0	0	0	1	0	14	135					A	14991753	G	A	14991753	3	1	51	1	0	0	0	0	1	0	0	0	11215	1057	37	2	516	2	OR7A17	19	14991753	Missense_Mutation	SNP	G	TCGA-EJ-5502-01A-01D-1576-08		14991753	44137230	21	2721											
PBX4	80714	broad.mit.edu	37	chr19	19681601	19681601	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atccagcctcaggagctgggCgtcagggggatcttcgtctt	6	10	14	11	2	4	0	2	0	2	0	6	2	5	2	2	4	2	1	2	4	0	2			TCGA-EJ-5502-01A-01D-1576-08	TCGA-EJ-5502-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97b6959f-ca52-42a1-900a-bb2174e31c17	561be685-9ad0-44b4-8c4f-dfbdcfbf68d6	g.chr19:19681601C>T	ENST00000251203.9	-	3	521	c.235G>A	c.(235-237)Gcc>Acc	p.A79T		NM_025245.2	NP_079521.1	Q9BYU1	PBX4_HUMAN	pre-B-cell leukemia homeobox 4	79					positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)|XY body (GO:0001741)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.A79T(1)		large_intestine(1)|lung(4)|ovary(1)|prostate(3)	9						AGGAGCTGGGCGTCAGGGGGA	0.562																																						ENST00000251203.8																			1	Substitution - Missense(1)	p.A79T(1)	prostate(1)	large_intestine(1)|lung(4)|ovary(1)|prostate(3)	9						c.(235-237)Gcc>Acc		pre-B-cell leukemia homeobox 4							67	68	68					19																	19681601		2203	4300	6503	SO:0001583	missense	80714						sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr19:19681601C>T	AJ300182	CCDS12406.1	19p13.11	2014-09-11	2007-01-30		ENSG00000105717			"Homeoboxes / TALE class"	13403	protein-coding gene	gene with protein product		608127	"pre-B-cell leukemia transcription factor 4"				Standard	NM_025245		Approved		uc002nmy.3	Q9BYU1	OTTHUMG00000172310	ENST00000251203.9:c.235G>A	19.37:g.19681601C>T	ENSP00000251203:p.Ala79Thr						p.A79T	NM_025245.2	NP_079521.1	Q9BYU1	PBX4_HUMAN			3	521	-			79					A5D8Y0|B3KUK9	Missense_Mutation	SNP	ENST00000251203.9	37	c.235G>A	CCDS12406.1	.	.	.	.	.	.	.	.	.	.	C	17.14	3.312393	0.60414	.	.	ENSG00000105717	ENST00000251203	T	0.30714	1.52	3.21	2.14	0.27477	PBX (1);	0.067079	0.64402	D	0.000009	T	0.35158	0.0922	L	0.54323	1.7	0.39153	D	0.962266	D	0.59767	0.986	P	0.50754	0.649	T	0.25537	-1.0129	10	0.72032	D	0.01	-11.6854	9.1233	0.36799	0.0:0.5569:0.4431:0.0	.	79	Q9BYU1	PBX4_HUMAN	T	79	ENSP00000251203:A79T	ENSP00000251203:A79T	A	-	1	0	PBX4	19542601	0.338000	0.24775	0.250000	0.24296	0.832000	0.47134	1.793000	0.38764	0.534000	0.28695	0.196000	0.17591	GCC		0.562	PBX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417784.6			6	83	0	0	0	1	0	6	83					T	19681601	C	T	19681601	3	4	51	1	0	0	0	0	1	0	0	0	11495	768	27	1	913	1	PBX4	19	19681601	Missense_Mutation	SNP	C	TCGA-EJ-5502-01A-01D-1576-08	4689848	19681601	39447382	22	2722											
MED12	9968	broad.mit.edu	37	chrX	70357096	70357096	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caatgcagaagctgcccaccCgaccaacttaccctggagtg	11	6	9	15	1	0	1	0	0	0	1	0	3	0	2	4	1	5	2	4	1	4	1			TCGA-EJ-5502-01A-01D-1576-08	TCGA-EJ-5502-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97b6959f-ca52-42a1-900a-bb2174e31c17	561be685-9ad0-44b4-8c4f-dfbdcfbf68d6	g.chrX:70357096C>A	ENST00000374080.3	+	39	5643	c.5611C>A	c.(5611-5613)Cga>Aga	p.R1871R	MED12_ENST00000333646.6_Silent_p.R1871R|MED12_ENST00000374102.1_Silent_p.R1871R			Q93074	MED12_HUMAN	mediator complex subunit 12	1871	Interaction with CTNNB1 and GLI3.				androgen receptor signaling pathway (GO:0030521)|axis elongation involved in somitogenesis (GO:0090245)|canonical Wnt signaling pathway (GO:0060070)|gene expression (GO:0010467)|heart development (GO:0007507)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|negative regulation of Wnt signaling pathway (GO:0030178)|neural tube closure (GO:0001843)|oligodendrocyte development (GO:0014003)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|Schwann cell development (GO:0014044)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein C-terminus binding (GO:0008022)|protein domain specific binding (GO:0019904)|receptor activity (GO:0004872)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II transcription cofactor activity (GO:0001104)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					GCTGCCCACCCGACCAACTTA	0.577			"M, S"		uterine leiomyoma		Opitz-Kaveggia Syndrome																															ENST00000333646.6				Dom	yes		X	Xq13	9968	"M, S"	mediator complex subunit 12	Yes	Opitz-Kaveggia Syndrome	M			uterine leiomyoma		0				breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420						c.(5611-5613)Cga>Aga		mediator complex subunit 12							65	64	64					X																	70357096		2068	4180	6248	SO:0001819	synonymous_variant	9968				androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	g.chrX:70357096C>A	U80742	CCDS43970.1	Xq13	2011-02-14	2007-07-30	2004-11-26	ENSG00000184634	ENSG00000184634			11957	protein-coding gene	gene with protein product		300188	"trinucleotide repeat containing 11 (THR-associated protein, 230kDa subunit)", "mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)", "FG syndrome 1"	TNRC11, FGS1		9225980, 10198638, 17334363, 20507344	Standard	NM_005120		Approved	CAGH45, HOPA, OPA1, TRAP230, KIAA0192, OKS	uc004dyy.3	Q93074	OTTHUMG00000021788	ENST00000374080.3:c.5611C>A	X.37:g.70357096C>A						MED12_ENST00000478889.1_3'UTR|MED12_ENST00000374102.1_Silent_p.R1871R|MED12_ENST00000374080.3_Silent_p.R1871R	p.R1871R	NM_005120.2	NP_005111.2	Q93074	MED12_HUMAN			39	5810	+	Renal(35;0.156)		1871			Interaction with CTNNB1 and GLI3.		O15410|O75557|Q9UHV6|Q9UND7	Silent	SNP	ENST00000374080.3	37	c.5611C>A	CCDS43970.1																																																																																				0.577	MED12-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000057105.1	NM_005120		3	52	1	0	1	1	1	3	52					A	70357096	C	A	70357096	2	1	51	1	0	0	0	0	0	0	0	1	9428	644	23	5		5	MED12	23	70357096	Silent	SNP	C	TCGA-EJ-5502-01A-01D-1576-08		70357096	84913464	23	2723											
CALML6	163688	broad.mit.edu	37	chr1	1848280	1848280	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	aggagagcgagctgagggcgGcattccgtgtctttgacaaa	10	8	15	8	3	1	3	0	2	1	1	2	5	2	3	1	3	2	2	1	3	1	2			TCGA-EJ-5503-01A-01D-1576-08	TCGA-EJ-5503-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25c002f7-e972-421a-b32d-7dd675d81931	0799b439-9364-4606-a024-7f100a249f53	g.chr1:1848280G>A	ENST00000307786.3	+	4	797	c.343G>A	c.(343-345)Gca>Aca	p.A115T	CALML6_ENST00000462293.1_3'UTR	NM_138705.2	NP_619650.2	Q8TD86	CALL6_HUMAN	calmodulin-like 6	115	EF-hand 3. {ECO:0000255|PROSITE- ProRule:PRU00448}.					cytoplasm (GO:0005737)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)	p.A115T(2)		NS(1)|breast(1)|endometrium(1)|kidney(1)|lung(1)|prostate(2)	7	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;5.61e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;1.94e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.83e-23)|GBM - Glioblastoma multiforme(42;3.23e-08)|Colorectal(212;3.98e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00437)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.199)		GCTGAGGGCGGCATTCCGTGT	0.597																																						ENST00000307786.3																			2	Substitution - Missense(2)	p.A115T(2)	prostate(1)|lung(1)	NS(1)|breast(1)|endometrium(1)|kidney(1)|lung(1)|prostate(2)	7						c.(343-345)Gca>Aca		calmodulin-like 6							98	107	104					1																	1848280		2203	4300	6503	SO:0001583	missense	163688					cytoplasm|nucleus	calcium ion binding	g.chr1:1848280G>A	AF490905	CCDS30566.1	1p36.33	2013-01-10			ENSG00000169885	ENSG00000169885		"EF-hand domain containing"	24193	protein-coding gene	gene with protein product		610171					Standard	NM_138705		Approved	CAGLP	uc001aih.1	Q8TD86	OTTHUMG00000000943	ENST00000307786.3:c.343G>A	1.37:g.1848280G>A	ENSP00000304643:p.Ala115Thr					CALML6_ENST00000462293.1_3'UTR	p.A115T	NM_138705.2	NP_619650.2	Q8TD86	CALL6_HUMAN		Epithelial(90;1.94e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.83e-23)|GBM - Glioblastoma multiforme(42;3.23e-08)|Colorectal(212;3.98e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00437)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.199)	4	797	+	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;5.61e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)	115			EF-hand 3.		A2A2M3|Q6Q2C4	Missense_Mutation	SNP	ENST00000307786.3	37	c.343G>A	CCDS30566.1	.	.	.	.	.	.	.	.	.	.	.	13.14	2.147600	0.37923	.	.	ENSG00000169885	ENST00000307786;ENST00000378604	T;T	0.74002	-0.8;-0.8	2.99	2.06	0.26882	EF-hand-like domain (1);	.	.	.	.	D	0.85035	0.5605	M	0.87038	2.855	0.27022	N	0.964453	D	0.89917	1.0	D	0.87578	0.998	T	0.73180	-0.4064	9	0.87932	D	0	.	5.8798	0.18848	0.1554:0.0:0.8446:0.0	.	115	Q8TD86	CALL6_HUMAN	T	115;98	ENSP00000304643:A115T;ENSP00000367867:A98T	ENSP00000304643:A115T	A	+	1	0	CALML6	1838140	0.056000	0.20664	0.030000	0.17652	0.359000	0.29487	1.847000	0.39299	0.594000	0.29761	0.313000	0.20887	GCA		0.597	CALML6-004	KNOWN	mRNA_start_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276929.1	NM_138705		4	205	0	0	0	1	0	4	205					A	1848280	G	A	1848280	3	1	52	1	0	0	0	0	1	0	0	0	2590	1203	42	3	357	3	CALML6	1	1848280	Missense_Mutation	SNP	G	TCGA-EJ-5503-01A-01D-1576-08		1848280	247402341	1	2724											
ZBTB17	7709	broad.mit.edu	37	chr1	16274882	16274882	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cgccagcactgctttatgagCcttaaagtgaacaccgtcca	11	9	8	13	2	0	2	0	2	0	0	1	2	1	2	4	0	4	2	4	0	4	3			TCGA-EJ-5503-01A-01D-1576-08	TCGA-EJ-5503-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25c002f7-e972-421a-b32d-7dd675d81931	0799b439-9364-4606-a024-7f100a249f53	g.chr1:16274882C>A	ENST00000375743.4	-	3	341	c.109G>T	c.(109-111)Gct>Tct	p.A37S	ZBTB17_ENST00000448462.2_Missense_Mutation_p.A37S|ZBTB17_ENST00000375733.2_Missense_Mutation_p.A37S|ZBTB17_ENST00000479282.1_5'UTR|ZBTB17_ENST00000537142.1_Intron	NM_003443.2	NP_003434.2	Q13105	ZBT17_HUMAN	zinc finger and BTB domain containing 17	37	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|ectoderm development (GO:0007398)|endoplasmic reticulum unfolded protein response (GO:0030968)|gastrulation with mouth forming second (GO:0001702)|negative regulation of cell cycle (GO:0045786)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.A37S(1)		breast(2)|endometrium(4)|large_intestine(1)|lung(4)|ovary(2)|prostate(2)	15		Colorectal(325;0.000257)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|Colorectal(212;4.12e-07)|COAD - Colon adenocarcinoma(227;2.43e-05)|BRCA - Breast invasive adenocarcinoma(304;9.97e-05)|Kidney(64;0.000182)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0649)		GCTTTATGAGCCTTAAAGTGA	0.572																																						ENST00000375733.2																			1	Substitution - Missense(1)	p.A37S(1)	prostate(1)	breast(2)|endometrium(4)|large_intestine(1)|lung(4)|ovary(2)|prostate(2)	15						c.(109-111)Gct>Tct		zinc finger and BTB domain containing 17							91	82	85					1																	16274882		2203	4300	6503	SO:0001583	missense	7709				negative regulation of cell cycle	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr1:16274882C>A	U20647	CCDS165.1, CCDS55576.1, CCDS72712.1	1p36.13	2013-01-08	2004-07-16	2004-07-16	ENSG00000116809	ENSG00000116809		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	12936	protein-coding gene	gene with protein product		604084	"zinc finger protein 151 (pHZ-67)", "zinc finger protein 60"	ZNF151, ZNF60			Standard	NM_003443		Approved	MIZ1, pHZ-67	uc001axl.4	Q13105	OTTHUMG00000009377	ENST00000375743.4:c.109G>T	1.37:g.16274882C>A	ENSP00000364895:p.Ala37Ser					ZBTB17_ENST00000537142.1_Intron|ZBTB17_ENST00000375743.4_Missense_Mutation_p.A37S|ZBTB17_ENST00000479282.1_5'UTR|ZBTB17_ENST00000448462.2_Missense_Mutation_p.A37S	p.A37S			Q13105	ZBT17_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|Colorectal(212;4.12e-07)|COAD - Colon adenocarcinoma(227;2.43e-05)|BRCA - Breast invasive adenocarcinoma(304;9.97e-05)|Kidney(64;0.000182)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0649)	3	347	-		Colorectal(325;0.000257)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)	37			BTB.		A0AV07|B4DXB4|B7ZLQ9|F5H411|Q15932|Q5JYB2|Q9NUC9	Missense_Mutation	SNP	ENST00000375743.4	37	c.109G>T	CCDS165.1	.	.	.	.	.	.	.	.	.	.	C	36	5.632869	0.96682	.	.	ENSG00000116809	ENST00000375743;ENST00000375733;ENST00000444654;ENST00000448462	T;T;T	0.77750	1.33;1.33;-1.12	5.3	5.3	0.74995	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.000000	0.85682	D	0.000000	D	0.91365	0.7276	M	0.93594	3.435	0.45172	D	0.998185	D;D;D;D;D;D	0.89917	0.999;0.999;0.999;0.999;1.0;0.995	D;D;D;D;D;D	0.97110	0.999;0.996;0.997;0.996;1.0;0.996	D	0.93281	0.6660	10	0.87932	D	0	.	18.3218	0.90241	0.0:1.0:0.0:0.0	.	37;37;37;37;37;37	B4DGV6;E7EPQ4;Q13105-2;B4DSM7;B2RCP2;Q13105	.;.;.;.;.;ZBT17_HUMAN	S	37	ENSP00000364895:A37S;ENSP00000364885:A37S;ENSP00000391002:A37S	ENSP00000364885:A37S	A	-	1	0	ZBTB17	16147469	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	7.666000	0.83877	2.649000	0.89929	0.561000	0.74099	GCT		0.572	ZBTB17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025998.1	NM_003443		7	106	1	0	0.00198382	1	0.00239225	7	106					A	16274882	C	A	16274882	3	1	52	1	0	0	0	0	1	0	0	0	17524	739	26	5	2358	5	ZBTB17	1	16274882	Missense_Mutation	SNP	C	TCGA-EJ-5503-01A-01D-1576-08	14426602	16274882	232975739	2	2725											
FAM5B	57795	broad.mit.edu	37	chr1	177199242	177199242	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtatgctgacttcatggagcGgtaccgccagggtttcacca	8	10	12	11	2	2	1	2	1	0	0	2	2	2	2	3	3	3	4	3	3	2	4			TCGA-EJ-5503-01A-01D-1576-08	TCGA-EJ-5503-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25c002f7-e972-421a-b32d-7dd675d81931	0799b439-9364-4606-a024-7f100a249f53	g.chr1:177199242G>A	ENST00000361539.4	+	2	542	c.230G>A	c.(229-231)cGg>cAg	p.R77Q		NM_021165.2	NP_066988.1	Q9C0B6	BRNP2_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 2	77					cell cycle arrest (GO:0007050)|cellular response to retinoic acid (GO:0071300)|negative regulation of mitotic cell cycle (GO:0045930)|positive regulation of neuron differentiation (GO:0045666)	extracellular region (GO:0005576)		p.R77Q(1)									TTCATGGAGCGGTACCGCCAG	0.617																																						ENST00000361539.4																			1	Substitution - Missense(1)	p.R77Q(1)	prostate(1)	breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(21)|liver(1)|lung(41)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	94						c.(229-231)cGg>cAg									58	64	62					1																	177199242		2203	4298	6501	SO:0001583	missense	0					extracellular region		g.chr1:177199242G>A		CCDS1320.1	1q24	2013-08-06	2013-08-06	2013-07-31	ENSG00000198797	ENSG00000198797			13746	protein-coding gene	gene with protein product			"family with sequence similarity 5, member B"	FAM5B		15193423	Standard	NM_021165		Approved	DBCCR1L2	uc001glf.3	Q9C0B6	OTTHUMG00000034953	ENST00000361539.4:c.230G>A	1.37:g.177199242G>A	ENSP00000354481:p.Arg77Gln						p.R77Q	NM_021165.2	NP_066988.1	Q9C0B6	FAM5B_HUMAN			2	542	+			77					O95560|Q6ZWC1|Q7LCZ9|Q8N360	Missense_Mutation	SNP	ENST00000361539.4	37	c.230G>A	CCDS1320.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.392483	0.83011	.	.	ENSG00000198797	ENST00000361539	T	0.18016	2.24	5.63	5.63	0.86233	.	0.000000	0.64402	D	0.000003	T	0.24353	0.0590	M	0.70903	2.155	0.50467	D	0.999874	D	0.53745	0.962	B	0.40782	0.34	T	0.03933	-1.0991	10	0.35671	T	0.21	-27.1643	19.3046	0.94155	0.0:0.0:1.0:0.0	.	77	Q9C0B6	FAM5B_HUMAN	Q	77	ENSP00000354481:R77Q	ENSP00000354481:R77Q	R	+	2	0	FAM5B	175465865	1.000000	0.71417	0.990000	0.47175	0.993000	0.82548	5.535000	0.67173	2.652000	0.90054	0.655000	0.94253	CGG		0.617	BRINP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084599.1	NM_021165		5	149	0	0	0	1	0	5	149					A	177199242	G	A	177199242	3	1	52	1	0	0	0	0	1	0	0	0	5593	1116	39	2	232	2	FAM5B	1	177199242	Missense_Mutation	SNP	G	TCGA-EJ-5503-01A-01D-1576-08	160924360	177199242	72051379	3	2726											
ZDBF2	57683	broad.mit.edu	37	chr2	207169502	207169502	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgaagtggtgcatttggatGatgctttttctgaagaagag	10	14	13	4	0	1	5	0	3	1	2	1	6	1	6	0	2	2	2	0	2	3	3			TCGA-EJ-5503-01A-01D-1576-08	TCGA-EJ-5503-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25c002f7-e972-421a-b32d-7dd675d81931	0799b439-9364-4606-a024-7f100a249f53	g.chr2:207169502G>T	ENST00000374423.3	+	5	636	c.250G>T	c.(250-252)Gat>Tat	p.D84Y		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	84							nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)	p.D84Y(2)		endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						GCATTTGGATGATGCTTTTTC	0.418																																						ENST00000374423.3																			2	Substitution - Missense(2)	p.D84Y(2)	prostate(2)	endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						c.(250-252)Gat>Tat		zinc finger, DBF-type containing 2							79	79	79					2																	207169502		1983	4165	6148	SO:0001583	missense	57683						nucleic acid binding|zinc ion binding	g.chr2:207169502G>T	AB046791	CCDS46501.1, CCDS74637.1	2q33.3	2013-01-10			ENSG00000204186	ENSG00000204186		"Zinc fingers, DBF-type"	29313	protein-coding gene	gene with protein product						10997877	Standard	XM_005246711		Approved	FLJ45338, KIAA1571	uc002vbp.2	Q9HCK1	OTTHUMG00000154648	ENST00000374423.3:c.250G>T	2.37:g.207169502G>T	ENSP00000363545:p.Asp84Tyr						p.D84Y	NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN			5	636	+			84					Q6ZNP7|Q6ZSN8	Missense_Mutation	SNP	ENST00000374423.3	37	c.250G>T	CCDS46501.1	.	.	.	.	.	.	.	.	.	.	G	14.63	2.591431	0.46214	.	.	ENSG00000204186	ENST00000374423	T	0.17691	2.26	5.05	4.17	0.49024	.	0.893064	0.09257	N	0.827135	T	0.28962	0.0719	L	0.47716	1.5	0.09310	N	1	D	0.71674	0.998	P	0.58520	0.84	T	0.12760	-1.0535	10	0.72032	D	0.01	.	7.3489	0.26678	0.0916:0.1691:0.7393:0.0	.	84	Q9HCK1	ZDBF2_HUMAN	Y	84	ENSP00000363545:D84Y	ENSP00000363545:D84Y	D	+	1	0	ZDBF2	206877747	0.108000	0.22018	0.057000	0.19452	0.001000	0.01503	0.861000	0.27885	1.121000	0.41925	-0.157000	0.13467	GAT		0.418	ZDBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336458.1	NM_020923		4	121	1	0	0.00024832	1	0.000308519	4	121					T	207169502	G	T	207169502	3	4	52	1	0	0	0	0	1	0	0	0	17596	1290	45	5	260	5	ZDBF2	2	207169502	Missense_Mutation	SNP	G	TCGA-EJ-5503-01A-01D-1576-08		207169502	36029871	4	2727											
CD200R1L	344807	broad.mit.edu	37	chr3	112546284	112546284	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actatgcctctgtaatacccGtcatgagtggtgtccaccgg	8	11	10	12	2	2	1	1	1	1	0	3	1	3	1	4	2	2	1	4	2	3	3			TCGA-EJ-5503-01A-01D-1576-08	TCGA-EJ-5503-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25c002f7-e972-421a-b32d-7dd675d81931	0799b439-9364-4606-a024-7f100a249f53	g.chr3:112546284G>A	ENST00000398214.1	-	3	585	c.360C>T	c.(358-360)gaC>gaT	p.D120D	CD200R1L_ENST00000488794.1_Silent_p.D99D|CD200R1L_ENST00000448932.1_Silent_p.D99D	NM_001008784.2	NP_001008784.2	Q6Q8B3	MO2R2_HUMAN	CD200 receptor 1-like	120	Ig-like V-type.					integral component of membrane (GO:0016021)		p.D120D(1)		breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|urinary_tract(2)	19						TGTAATACCCGTCATGAGTGG	0.463																																						ENST00000488794.1																			1	Substitution - coding silent(1)	p.D120D(1)	prostate(1)	breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|urinary_tract(2)	19						c.(295-297)gaC>gaT		CD200 receptor 1-like							137	133	135					3																	112546284		2203	4300	6503	SO:0001819	synonymous_variant	344807					integral to membrane	receptor activity	g.chr3:112546284G>A	AY284976	CCDS43131.1, CCDS56267.1	3q13.2	2014-05-15	2008-10-08		ENSG00000206531	ENSG00000206531		"Immunoglobulin superfamily / C2-set domain containing"	24665	protein-coding gene	gene with protein product	"CD200 receptor 2"						Standard	NM_001008784		Approved	CD200RLa, CD200R2	uc003dzi.1	Q6Q8B3	OTTHUMG00000159283	ENST00000398214.1:c.360C>T	3.37:g.112546284G>A						CD200R1L_ENST00000448932.1_Silent_p.D99D|CD200R1L_ENST00000398214.1_Silent_p.D120D	p.D99D			Q6Q8B3	MO2R2_HUMAN			5	886	-			120			Ig-like V-type.		Q6WHB7	Silent	SNP	ENST00000398214.1	37	c.297C>T	CCDS43131.1																																																																																				0.463	CD200R1L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000354365.1	NM_001008784		7	268	0	0	0	1	0	7	268					A	112546284	G	A	112546284	2	1	52	1	0	0	0	0	0	0	0	1	2982	1136	40	1		1	CD200R1L	3	112546284	Silent	SNP	G	TCGA-EJ-5503-01A-01D-1576-08		112546284	85476146	5	2728											
C5orf33	133686	broad.mit.edu	37	chr5	36225709	36225709	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aagactttactcgctgccagCagcattgtgccatcacctaa	11	10	7	13	1	1	1	1	0	0	1	2	1	1	1	3	0	5	3	3	0	3	4			TCGA-EJ-5503-01A-01D-1576-08	TCGA-EJ-5503-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25c002f7-e972-421a-b32d-7dd675d81931	0799b439-9364-4606-a024-7f100a249f53	g.chr5:36225709C>A	ENST00000381937.4	-	4	494	c.495G>T	c.(493-495)ctG>ctT	p.L165L	NADK2_ENST00000514504.1_Silent_p.L165L|NADK2_ENST00000282512.3_Silent_p.L2L|NADK2_ENST00000506945.1_Silent_p.L2L|NADK2_ENST00000397338.1_Silent_p.L2L	NM_001085411.1	NP_001078880.1	Q4G0N4	NAKD2_HUMAN	NAD kinase 2, mitochondrial	165					NAD metabolic process (GO:0019674)|NADP biosynthetic process (GO:0006741)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|NAD+ kinase activity (GO:0003951)|protein homodimerization activity (GO:0042803)	p.L2L(1)									TCGCTGCCAGCAGCATTGTGC	0.358																																						ENST00000397338.1																			1	Substitution - coding silent(1)	p.L2L(1)	prostate(1)								c.(4-6)ctG>ctT		NAD kinase 2, mitochondrial							126	113	118					5																	36225709		2203	4300	6503	SO:0001819	synonymous_variant	133686							g.chr5:36225709C>A	BC062567	CCDS3917.1, CCDS47197.1, CCDS75235.1	5p13.2	2013-04-30	2013-04-30	2013-04-30	ENSG00000152620	ENSG00000152620			26404	protein-coding gene	gene with protein product	"mitochondrial NAD kinase"	615787	"chromosome 5 open reading frame 33", "NAD kinase domain containing 1"	C5orf33, NADKD1		23616928	Standard	NM_001085411		Approved	FLJ30596, MNADK	uc003jkf.4	Q4G0N4	OTTHUMG00000131105	ENST00000381937.4:c.495G>T	5.37:g.36225709C>A						NADK2_ENST00000381937.4_Silent_p.L165L|NADK2_ENST00000514504.1_Silent_p.L165L|NADK2_ENST00000506945.1_Silent_p.L2L|NADK2_ENST00000282512.3_Silent_p.L2L	p.L2L							4	227	-								B5MC93|Q6UTX5|Q96NM0	Silent	SNP	ENST00000381937.4	37	c.6G>T	CCDS47197.1																																																																																				0.358	NADK2-003	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367541.1	NM_153013		4	222	1	0	0.184627	1	0.204587	4	222					A	36225709	C	A	36225709	2	1	52	1	0	0	0	0	0	0	0	1	2292	697	25	5		5	C5orf33	5	36225709	Silent	SNP	C	TCGA-EJ-5503-01A-01D-1576-08		36225709	144689551	6	2729											
EPB41L4A	64097	broad.mit.edu	37	chr5	111598235	111598235	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atacatctccagggatttggCagtcctcaagtaattcagct	11	12	8	10	0	3	0	2	0	1	0	5	1	4	1	2	2	2	3	2	2	3	4			TCGA-EJ-5503-01A-01D-1576-08	TCGA-EJ-5503-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25c002f7-e972-421a-b32d-7dd675d81931	0799b439-9364-4606-a024-7f100a249f53	g.chr5:111598235C>T	ENST00000261486.5	-	7	874	c.598G>A	c.(598-600)Gcc>Acc	p.A200T		NM_022140.3	NP_071423	Q9HCS5	E41LA_HUMAN	erythrocyte membrane protein band 4.1 like 4A	200	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.					cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)		p.A200T(1)		breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(2)|skin(1)	34		all_cancers(142;4.93e-06)|all_epithelial(76;2.28e-08)|Prostate(80;0.000244)|Colorectal(10;0.000788)|Ovarian(225;0.0448)|Lung NSC(167;0.126)|all_lung(232;0.135)		OV - Ovarian serous cystadenocarcinoma(64;6.24e-09)|Epithelial(69;1.43e-07)|all cancers(49;2.78e-05)|COAD - Colon adenocarcinoma(37;0.0467)|Colorectal(14;0.0791)		AGGGATTTGGCAGTCCTCAAG	0.408																																						ENST00000261486.5																			1	Substitution - Missense(1)	p.A200T(1)	prostate(1)	breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(2)|skin(1)	34						c.(598-600)Gcc>Acc		erythrocyte membrane protein band 4.1 like 4A							124	124	124					5																	111598235		1912	4121	6033	SO:0001583	missense	64097					cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding	g.chr5:111598235C>T	AB030240	CCDS43350.1	5q21.3	2008-02-05			ENSG00000129595	ENSG00000129595			13278	protein-coding gene	gene with protein product		612141				10874211	Standard	XM_005272043		Approved	NBL4	uc003kpv.1	Q9HCS5	OTTHUMG00000162902	ENST00000261486.5:c.598G>A	5.37:g.111598235C>T	ENSP00000261486:p.Ala200Thr						p.A200T	NM_022140.3	NP_071423.3	Q9HCS5	E41LA_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;6.24e-09)|Epithelial(69;1.43e-07)|all cancers(49;2.78e-05)|COAD - Colon adenocarcinoma(37;0.0467)|Colorectal(14;0.0791)	7	874	-		all_cancers(142;4.93e-06)|all_epithelial(76;2.28e-08)|Prostate(80;0.000244)|Colorectal(10;0.000788)|Ovarian(225;0.0448)|Lung NSC(167;0.126)|all_lung(232;0.135)	200			FERM.		A4FUI6	Missense_Mutation	SNP	ENST00000261486.5	37	c.598G>A	CCDS43350.1	.	.	.	.	.	.	.	.	.	.	C	34	5.344958	0.95807	.	.	ENSG00000129595	ENST00000261486	T	0.79845	-1.31	5.54	5.54	0.83059	Band 4.1 domain (1);FERM central domain (2);FERM domain (1);FERM/acyl-CoA-binding protein, 3-helical bundle (1);FERM conserved site (1);	0.113912	0.64402	D	0.000019	D	0.87981	0.6315	M	0.85299	2.745	0.43347	D	0.995403	P	0.50819	0.939	P	0.51324	0.666	D	0.89722	0.3920	10	0.87932	D	0	.	18.6127	0.91291	0.0:1.0:0.0:0.0	.	200	Q9HCS5	E41LA_HUMAN	T	200	ENSP00000261486:A200T	ENSP00000261486:A200T	A	-	1	0	EPB41L4A	111626134	1.000000	0.71417	0.989000	0.46669	0.996000	0.88848	4.303000	0.59098	2.764000	0.94973	0.655000	0.94253	GCC		0.408	EPB41L4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370969.1			4	242	0	0	0	1	0	4	242					T	111598235	C	T	111598235	3	4	52	1	0	0	0	0	1	0	0	0	5155	710	25	3	1530	3	EPB41L4A	5	111598235	Missense_Mutation	SNP	C	TCGA-EJ-5503-01A-01D-1576-08	75372526	111598235	69317025	7	2730											
PCDHA3	56145	broad.mit.edu	37	chr5	140181572	140181572	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atggtaccctagtggtgaccGttaacgccaccgatttggat	9	11	11	10	3	0	1	0	1	0	0	0	3	0	2	4	3	2	2	4	3	3	4			TCGA-EJ-5503-01A-01D-1576-08	TCGA-EJ-5503-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25c002f7-e972-421a-b32d-7dd675d81931	0799b439-9364-4606-a024-7f100a249f53	g.chr5:140181572G>A	ENST00000522353.2	+	1	790	c.790G>A	c.(790-792)Gtt>Att	p.V264I	PCDHA3_ENST00000532566.2_Missense_Mutation_p.V264I|PCDHA2_ENST00000520672.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron	NM_018906.2	NP_061729.1	Q9Y5H8	PCDA3_HUMAN	protocadherin alpha 3	264	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.V264I(4)		NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGTGGTGACCGTTAACGCCAC	0.418																																						ENST00000522353.2																			4	Substitution - Missense(4)	p.V264I(4)	prostate(2)|endometrium(2)	NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1)	95						c.(790-792)Gtt>Att									70	66	67					5																	140181572		2203	4300	6503	SO:0001583	missense	0							g.chr5:140181572G>A	AF152481	CCDS54915.1	5q31	2010-11-26				ENSG00000255408		"Cadherins / Protocadherins : Clustered"	8669	other	complex locus constituent	"KIAA0345-like 11"	606309				10380929	Standard	NM_018906		Approved	PCDH-ALPHA3		Q9Y5H8		ENST00000522353.2:c.790G>A	5.37:g.140181572G>A	ENSP00000429808:p.Val264Ile					PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000532566.2_Missense_Mutation_p.V264I|PCDHA2_ENST00000520672.2_Intron|PCDHA1_ENST00000504120.2_Intron	p.V264I	NM_018906.2	NP_061729.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	790	+								O75286	Missense_Mutation	SNP	ENST00000522353.2	37	c.790G>A	CCDS54915.1	.	.	.	.	.	.	.	.	.	.	g	8.907	0.957722	0.18507	.	.	ENSG00000255408	ENST00000522353;ENST00000532566	T;T	0.56611	0.45;0.45	4.86	1.81	0.25067	Cadherin (5);Cadherin-like (1);	0.422853	0.16918	U	0.194218	T	0.42494	0.1205	L	0.46567	1.45	0.09310	N	1	P;P	0.47962	0.903;0.664	B;B	0.43360	0.303;0.417	T	0.33777	-0.9855	10	0.59425	D	0.04	.	4.5835	0.12271	0.0779:0.3157:0.4118:0.1946	.	264;264	Q9Y5H8-2;Q9Y5H8	.;PCDA3_HUMAN	I	264	ENSP00000429808:V264I;ENSP00000434086:V264I	ENSP00000429808:V264I	V	+	1	0	PCDHA3	140161756	0.000000	0.05858	0.670000	0.29842	0.471000	0.32888	-3.514000	0.00445	1.149000	0.42402	0.467000	0.42956	GTT		0.418	PCDHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372848.2	NM_018906		4	133	0	0	0	1	0	4	133					A	140181572	G	A	140181572	3	1	52	1	0	0	0	0	1	0	0	0	11525	1145	40	1	792	1	PCDHA3	5	140181572	Missense_Mutation	SNP	G	TCGA-EJ-5503-01A-01D-1576-08	28583337	140181572	40733688	8	2731											
TCF19	6941	broad.mit.edu	37	chr6	31127393	31127393	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccctgcggccccagcaggaGcctggcctcatctctgggat	5	7	13	16	1	2	0	1	0	1	0	3	2	2	2	5	4	3	1	5	4	0	0			TCGA-EJ-5503-01A-01D-1576-08	TCGA-EJ-5503-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25c002f7-e972-421a-b32d-7dd675d81931	0799b439-9364-4606-a024-7f100a249f53	g.chr6:31127393G>T	ENST00000376257.3	+	2	901	c.147G>T	c.(145-147)gaG>gaT	p.E49D	CCHCR1_ENST00000396263.2_5'Flank|CCHCR1_ENST00000451521.2_5'Flank|CCHCR1_ENST00000396268.3_5'Flank|CCHCR1_ENST00000480060.1_5'Flank|CCHCR1_ENST00000376266.5_5'Flank|TCF19_ENST00000376255.4_Missense_Mutation_p.E49D	NM_007109.2	NP_009040.2	Q9Y242	TCF19_HUMAN	transcription factor 19	49	FHA. {ECO:0000255|PROSITE- ProRule:PRU00086}.				cell proliferation (GO:0008283)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.E49D(1)		kidney(1)|large_intestine(1)|lung(5)|prostate(1)|skin(1)	9						CCCAGCAGGAGCCTGGCCTCA	0.662																																						ENST00000376257.3																			1	Substitution - Missense(1)	p.E49D(1)	prostate(1)	kidney(1)|large_intestine(1)|lung(5)|prostate(1)|skin(1)	9						c.(145-147)gaG>gaT		transcription factor 19							27	32	30					6																	31127393		1972	4139	6111	SO:0001583	missense	6941				cell proliferation|regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr6:31127393G>T	U25826	CCDS43446.1	6p21.3	2013-01-28	2009-02-05		ENSG00000137310	ENSG00000137310		"Zinc fingers, PHD-type"	11629	protein-coding gene	gene with protein product		600912				1868030, 8595903	Standard	NM_001077511		Approved	SC1	uc003nss.3	Q9Y242	OTTHUMG00000031274	ENST00000376257.3:c.147G>T	6.37:g.31127393G>T	ENSP00000365433:p.Glu49Asp					TCF19_ENST00000376255.4_Missense_Mutation_p.E49D	p.E49D	NM_007109.2	NP_009040.2	Q9Y242	TCF19_HUMAN			2	901	+			49			FHA.		A6NCT8|B0UY11|Q0EFA8|Q13176|Q15967|Q5SQ89|Q5STD6|Q5STF5|Q9BUM2|Q9UBH7	Missense_Mutation	SNP	ENST00000376257.3	37	c.147G>T	CCDS43446.1	.	.	.	.	.	.	.	.	.	.	G	24.1	4.491806	0.84962	.	.	ENSG00000137310	ENST00000376257;ENST00000376255	D;D	0.84589	-1.87;-1.87	5.71	2.94	0.34122	Forkhead-associated (FHA) domain (4);SMAD/FHA domain (1);	0.240514	0.41500	N	0.000869	T	0.52996	0.1769	N	0.12887	0.27	0.38749	D	0.954068	B	0.18310	0.027	B	0.20577	0.03	T	0.45991	-0.9223	10	0.40728	T	0.16	-22.617	5.8164	0.18495	0.1717:0.1588:0.6695:0.0	.	49	Q9Y242	TCF19_HUMAN	D	49	ENSP00000365433:E49D;ENSP00000365431:E49D	ENSP00000365431:E49D	E	+	3	2	TCF19	31235372	1.000000	0.71417	0.992000	0.48379	0.992000	0.81027	0.480000	0.22244	0.329000	0.23460	0.549000	0.68633	GAG		0.662	TCF19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076595.2	NM_007109		3	46	1	0	1	1	1	3	46					T	31127393	G	T	31127393	3	4	52	1	0	0	0	0	1	0	0	0	15686	962	34	5	149	5	TCF19	6	31127393	Missense_Mutation	SNP	G	TCGA-EJ-5503-01A-01D-1576-08		31127393	139987674	9	2732											
ABCC10	89845	broad.mit.edu	37	chr6	43400462	43400462	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cggcagcctcaggacatttgCcgcctcccccacagactgca	8	6	9	18	2	1	1	1	0	0	1	2	2	2	2	5	2	3	2	5	2	0	1			TCGA-EJ-5503-01A-01D-1576-08	TCGA-EJ-5503-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25c002f7-e972-421a-b32d-7dd675d81931	0799b439-9364-4606-a024-7f100a249f53	g.chr6:43400462C>T	ENST00000372530.4	+	3	959	c.744C>T	c.(742-744)tgC>tgT	p.C248C	ABCC10_ENST00000443426.2_Intron|ABCC10_ENST00000244533.3_Silent_p.C205C	NM_001198934.1	NP_001185863.1	Q5T3U5	MRP7_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 10	248					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)	p.C205C(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(8)|lung(21)|ovary(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)		Cyclosporine(DB00091)|Cytarabine(DB00987)|Daunorubicin(DB00694)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Estradiol(DB00783)|Etoposide(DB00773)|Gemcitabine(DB00441)|Methotrexate(DB00563)|Paclitaxel(DB01229)|Sildenafil(DB00203)|Tenofovir(DB00300)|Verapamil(DB00661)|Vincristine(DB00541)	AGGACATTTGCCGCCTCCCCC	0.642																																						ENST00000244533.3																			1	Substitution - coding silent(1)	p.C205C(1)	prostate(1)	NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(8)|lung(21)|ovary(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						c.(613-615)tgC>tgT		ATP-binding cassette, sub-family C (CFTR/MRP), member 10							37	39	39					6																	43400462		2203	4300	6503	SO:0001819	synonymous_variant	89845					integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr6:43400462C>T	U66684	CCDS4896.1, CCDS56430.1	6p12.3	2012-03-14			ENSG00000124574	ENSG00000124574		"ATP binding cassette transporters / subfamily C"	52	protein-coding gene	gene with protein product		612509				8894702	Standard	NM_033450		Approved	EST182763, MRP7, SIMRP7	uc003ouy.1	Q5T3U5	OTTHUMG00000014733	ENST00000372530.4:c.744C>T	6.37:g.43400462C>T						ABCC10_ENST00000372530.4_Silent_p.C248C|ABCC10_ENST00000443426.2_Intron	p.C205C	NM_033450.2	NP_258261.2	Q5T3U5	MRP7_HUMAN	Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)		1	974	+	all_lung(25;0.00536)		248					Q8NHX7|Q9H7N2|Q9NXY3|Q9UF48	Silent	SNP	ENST00000372530.4	37	c.615C>T	CCDS56430.1																																																																																				0.642	ABCC10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040603.2	NM_033450		3	58	0	0	0	1	0	3	58					T	43400462	C	T	43400462	2	4	52	1	0	0	0	0	0	0	0	1	50	747	26	3		3	ABCC10	6	43400462	Silent	SNP	C	TCGA-EJ-5503-01A-01D-1576-08	12273069	43400462	127714605	10	2733											
ZNF212	7988	broad.mit.edu	37	chr7	148947631	148947631	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ccccgggcagcaagggggagGcccccaaggtagtctcattg	8	5	15	13	1	1	0	1	0	1	0	2	1	1	1	4	5	1	3	4	5	3	2			TCGA-EJ-5503-01A-01D-1576-08	TCGA-EJ-5503-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25c002f7-e972-421a-b32d-7dd675d81931	0799b439-9364-4606-a024-7f100a249f53	g.chr7:148947631G>A	ENST00000335870.2	+	2	534	c.406G>A	c.(406-408)Gcc>Acc	p.A136T		NM_012256.3	NP_036388.2	Q9UDV6	ZN212_HUMAN	zinc finger protein 212	136					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|zinc ion binding (GO:0008270)	p.A136T(1)		endometrium(2)|kidney(1)|large_intestine(4)|ovary(1)|prostate(1)	9	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00171)			CAAGGGGGAGGCCCCCAAGGT	0.557																																						ENST00000335870.2																			1	Substitution - Missense(1)	p.A136T(1)	prostate(1)	endometrium(2)|kidney(1)|large_intestine(4)|ovary(1)|prostate(1)	9						c.(406-408)Gcc>Acc		zinc finger protein 212							57	75	69					7																	148947631		2196	4298	6494	SO:0001583	missense	7988				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|identical protein binding|zinc ion binding	g.chr7:148947631G>A	U38864	CCDS5896.1	7q36.1	2013-01-08			ENSG00000170260	ENSG00000170260		"Zinc fingers, C2H2-type", "-"	13004	protein-coding gene	gene with protein product		602386				9169157	Standard	NM_012256		Approved	C2H2-150	uc003wfp.3	Q9UDV6	OTTHUMG00000158968	ENST00000335870.2:c.406G>A	7.37:g.148947631G>A	ENSP00000338572:p.Ala136Thr						p.A136T	NM_012256.3	NP_036388.2	Q9UDV6	ZN212_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00171)		2	534	+	Melanoma(164;0.15)		136					B2RCF4|Q13396|Q8N664	Missense_Mutation	SNP	ENST00000335870.2	37	c.406G>A	CCDS5896.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.94|14.94	2.685624|2.685624	0.47991|0.47991	.|.	.|.	ENSG00000170260|ENSG00000170260	ENST00000335870|ENST00000481584	T|.	0.07444|.	3.19|.	5.7|5.7	3.63|3.63	0.41609|0.41609	Krueppel-associated box (1);|.	0.864979|.	0.09897|.	N|.	0.741495|.	T|T	0.31482|0.31482	0.0798|0.0798	L|L	0.29908|0.29908	0.895|0.895	0.21802|0.21802	N|N	0.999538|0.999538	B|.	0.09022|.	0.002|.	B|.	0.09377|.	0.004|.	T|T	0.19386|0.19386	-1.0307|-1.0307	10|5	0.11485|.	T|.	0.65|.	-0.8292|-0.8292	6.8136|6.8136	0.23819|0.23819	0.2543:0.0:0.7457:0.0|0.2543:0.0:0.7457:0.0	.|.	136|.	Q9UDV6|.	ZN212_HUMAN|.	T|D	136|33	ENSP00000338572:A136T|.	ENSP00000338572:A136T|.	A|G	+|+	1|2	0|0	ZNF212|ZNF212	148578564|148578564	0.001000|0.001000	0.12720|0.12720	0.857000|0.857000	0.33713|0.33713	0.997000|0.997000	0.91878|0.91878	0.413000|0.413000	0.21148|0.21148	0.551000|0.551000	0.29008|0.29008	0.563000|0.563000	0.77884|0.77884	GCC|GGC		0.557	ZNF212-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352710.1	NM_012256		14	212	0	0	0	1	0	14	212					A	148947631	G	A	148947631	3	1	52	1	0	0	0	0	1	0	0	0	17765	1203	42	3	412	3	ZNF212	7	148947631	Missense_Mutation	SNP	G	TCGA-EJ-5503-01A-01D-1576-08		148947631	10191032	11	2734											
DOCK8	81704	broad.mit.edu	37	chr9	428369	428369	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccattcccccaggcgagctCggctctggactgtaaagaca	9	8	10	14	2	1	1	0	0	1	1	4	3	3	2	3	3	1	3	3	3	2	2	rs370123223		TCGA-EJ-5503-01A-01D-1576-08	TCGA-EJ-5503-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25c002f7-e972-421a-b32d-7dd675d81931	0799b439-9364-4606-a024-7f100a249f53	g.chr9:428369C>A	ENST00000453981.1	+	35	4458	c.4346C>A	c.(4345-4347)tCg>tAg	p.S1449*	DOCK8_ENST00000469391.1_Nonsense_Mutation_p.S1349*|DOCK8_ENST00000432829.2_Nonsense_Mutation_p.S1381*|DOCK8_ENST00000382329.1_Nonsense_Mutation_p.S916*			Q8NF50	DOCK8_HUMAN	dedicator of cytokinesis 8	1449					blood coagulation (GO:0007596)|dendritic cell migration (GO:0036336)|immunological synapse formation (GO:0001771)|memory T cell proliferation (GO:0061485)|negative regulation of T cell apoptotic process (GO:0070233)|small GTPase mediated signal transduction (GO:0007264)	cell leading edge (GO:0031252)|cytosol (GO:0005829)|membrane (GO:0016020)	guanyl-nucleotide exchange factor activity (GO:0005085)	p.S1381*(2)|p.S1449*(1)		breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)		CAGGCGAGCTCGGCTCTGGAC	0.502																																						ENST00000432829.2																			3	Substitution - Nonsense(3)	p.S1381*(2)|p.S1449*(1)	prostate(3)	breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65						c.(4141-4143)tCg>tAg		dedicator of cytokinesis 8							125	102	110					9																	428369		2203	4300	6503	SO:0001587	stop_gained	81704				blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	g.chr9:428369C>A	AK090429	CCDS6440.1, CCDS6440.2, CCDS55283.1, CCDS55284.1	9p24.3	2014-09-17			ENSG00000107099	ENSG00000107099			19191	protein-coding gene	gene with protein product		611432				11214971	Standard	NM_203447		Approved	FLJ00026, FLJ00152, ZIR8, FLJ00346	uc003zgf.2	Q8NF50	OTTHUMG00000078789	ENST00000453981.1:c.4346C>A	9.37:g.428369C>A	ENSP00000408464:p.Ser1449*					DOCK8_ENST00000382329.1_Nonsense_Mutation_p.S916*|DOCK8_ENST00000469391.1_Nonsense_Mutation_p.S1349*|DOCK8_ENST00000453981.1_Nonsense_Mutation_p.S1449*	p.S1381*	NM_203447.3	NP_982272.2	Q8NF50	DOCK8_HUMAN		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)	35	4458	+		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)	1449			DHR-2.		A2A350|A2BDF2|A4FU78|B7ZLP0|E9PH09|Q3MV16|Q5JPJ1|Q8TEP1|Q8WUY2|Q9BYJ5|Q9H1Q2|Q9H1Q3|Q9H308|Q9H7P2	Nonsense_Mutation	SNP	ENST00000453981.1	37	c.4142C>A	CCDS6440.2	.	.	.	.	.	.	.	.	.	.	C	44	10.999450	0.99501	.	.	ENSG00000107099	ENST00000453981;ENST00000287364;ENST00000432829;ENST00000469391;ENST00000382329	.	.	.	5.65	5.65	0.86999	.	0.381500	0.30556	N	0.009377	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06625	T	0.88	.	9.8974	0.41327	0.0:0.8436:0.0:0.1564	.	.	.	.	X	1449;1417;1381;1349;916	.	ENSP00000287364:S1417X	S	+	2	0	DOCK8	418369	0.991000	0.36638	0.756000	0.31282	0.339000	0.28857	2.888000	0.48594	2.648000	0.89879	0.650000	0.86243	TCG		0.502	DOCK8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171792.5	XM_036307		4	123	1	0	0.00909568	1	0.010359	4	123					A	428369	C	A	428369	4	1	52	1	0	0	0	0	0	1	0	0	4693	893	31	5	4484	5	DOCK8	9	428369	Nonsense_Mutation	SNP	C	TCGA-EJ-5503-01A-01D-1576-08		428369	140785062	12	2735											
TPRN	286262	broad.mit.edu	37	chr9	140093678	140093678	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgtgaaggtgttgctgccccGgggctgaagctctgccacgc	5	9	15	12	2	1	2	0	2	1	0	1	2	1	2	3	3	4	4	3	3	2	1			TCGA-EJ-5503-01A-01D-1576-08	TCGA-EJ-5503-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25c002f7-e972-421a-b32d-7dd675d81931	0799b439-9364-4606-a024-7f100a249f53	g.chr9:140093678G>A	ENST00000409012.4	-	1	1572	c.1486C>T	c.(1486-1488)Cgg>Tgg	p.R496W	TPRN_ENST00000321773.2_Missense_Mutation_p.R435W|TPRN_ENST00000541945.1_Intron	NM_001128228.2	NP_001121700.2	Q4KMQ1	TPRN_HUMAN	taperin	496					sensory perception of sound (GO:0007605)	stereocilium (GO:0032420)		p.R190W(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(2)	8						TTGCTGCCCCGGGGCTGAAGC	0.682																																						ENST00000409012.4																			1	Substitution - Missense(1)	p.R190W(1)	prostate(1)	breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(2)	8						c.(1486-1488)Cgg>Tgg		taperin							51	53	52					9																	140093678		2203	4300	6503	SO:0001583	missense	286262				sensory perception of sound	stereocilium		g.chr9:140093678G>A	AK074735	CCDS56594.1	9q34.3	2011-01-06	2010-03-24	2010-03-24	ENSG00000176058	ENSG00000176058			26894	protein-coding gene	gene with protein product		613354	"chromosome 9 open reading frame 75", "deafness, autosomal recessive 79"	C9orf75, DFNB79		20170898, 20170899	Standard	NM_001128228		Approved	FLJ90254	uc004clu.3	Q4KMQ1	OTTHUMG00000020984	ENST00000409012.4:c.1486C>T	9.37:g.140093678G>A	ENSP00000387100:p.Arg496Trp					TPRN_ENST00000321773.2_Missense_Mutation_p.R435W|TPRN_ENST00000541945.1_Intron	p.R496W	NM_001128228.2	NP_001121700.2	Q4KMQ1	TPRN_HUMAN			1	1572	-			496					B7ZKU5|Q5VSG5|Q5VSG6|Q6IPP2|Q8NCH2	Missense_Mutation	SNP	ENST00000409012.4	37	c.1486C>T	CCDS56594.1	.	.	.	.	.	.	.	.	.	.	G	9.820	1.185503	0.21870	.	.	ENSG00000176058	ENST00000333046;ENST00000409012;ENST00000321773	.	.	.	3.66	-0.896	0.10557	.	0.151030	0.41097	D	0.000942	T	0.55481	0.1923	M	0.75264	2.295	0.09310	N	1	D	0.89917	1.0	D	0.73380	0.98	T	0.49263	-0.8958	9	0.87932	D	0	-8.0677	6.5532	0.22446	0.0:0.1687:0.3149:0.5164	.	496	Q4KMQ1	TPRN_HUMAN	W	294;496;435	.	ENSP00000313704:R435W	R	-	1	2	TPRN	139213499	0.000000	0.05858	0.000000	0.03702	0.046000	0.14306	-0.149000	0.10204	-0.463000	0.06973	-0.475000	0.04921	CGG		0.682	TPRN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055323.3	NM_173691		3	110	0	0	0	1	0	3	110					A	140093678	G	A	140093678	3	1	52	1	0	0	0	0	1	0	0	0	16418	1115	39	2	745	2	TPRN	9	140093678	Missense_Mutation	SNP	G	TCGA-EJ-5503-01A-01D-1576-08	139665309	140093678	1119753	13	2736											
INS	723961	broad.mit.edu	37	chr11	2182081	2182081	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcctcgttccccgcacactaGgtagagagcttccaccaggt	8	8	10	15	2	0	1	0	0	0	1	3	2	2	1	5	2	1	4	5	2	2	4			TCGA-EJ-5503-01A-01D-1576-08	TCGA-EJ-5503-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25c002f7-e972-421a-b32d-7dd675d81931	0799b439-9364-4606-a024-7f100a249f53	g.chr11:2182081G>A	ENST00000397270.1	-	2	179	c.121C>T	c.(121-123)Cta>Tta	p.L41L	INS_ENST00000250971.3_Silent_p.L41L|INS_ENST00000381330.4_Silent_p.L41L|INS_ENST00000397262.1_Silent_p.L41L|INS-IGF2_ENST00000481781.1_5'Flank|INS_ENST00000512523.1_Silent_p.L41L	NM_001042376.2	NP_001035835.1	F8WCM5	INSR2_HUMAN	INS-IGF2 readthrough	41						extracellular region (GO:0005576)		p.L41L(2)		haematopoietic_and_lymphoid_tissue(1)|lung(3)|prostate(1)	5		all_epithelial(84;0.00018)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)|all_lung(207;0.24)	Colorectal(5;0.00245)|COAD - Colon adenocarcinoma(6;0.0239)	BRCA - Breast invasive adenocarcinoma(625;0.00256)|LUSC - Lung squamous cell carcinoma(625;0.0832)|Lung(200;0.156)		CCGCACACTAGGTAGAGAGCT	0.662																																						ENST00000397270.1																			2	Substitution - coding silent(2)	p.L41L(2)	prostate(2)	haematopoietic_and_lymphoid_tissue(1)|lung(3)|prostate(1)	5						c.(121-123)Cta>Tta									63	64	64					11																	2182081		2200	4299	6499	SO:0001819	synonymous_variant	0				glucose metabolic process	extracellular region	hormone activity	g.chr11:2182081G>A	DQ104205	CCDS41598.1	11p15.5	2011-03-23			ENSG00000129965	ENSG00000129965			33527	other	readthrough						16531418	Standard	NM_001042376		Approved		uc001lvm.3	F8WCM5	OTTHUMG00000166213	ENST00000397270.1:c.121C>T	11.37:g.2182081G>A						INS_ENST00000250971.3_Silent_p.L41L|INS_ENST00000397262.1_Silent_p.L41L|INS_ENST00000381330.4_Silent_p.L41L|INS_ENST00000512523.1_Silent_p.L41L	p.L41L	NM_001042376.2	NP_001035835.1	Q1WM24	Q1WM24_HUMAN	Colorectal(5;0.00245)|COAD - Colon adenocarcinoma(6;0.0239)	BRCA - Breast invasive adenocarcinoma(625;0.00256)|LUSC - Lung squamous cell carcinoma(625;0.0832)|Lung(200;0.156)	2	179	-		all_epithelial(84;0.00018)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)|all_lung(207;0.24)	41					Q1WM24	Silent	SNP	ENST00000397270.1	37	c.121C>T	CCDS41598.1																																																																																				0.662	INS-IGF2-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000388404.1	NM_001042376.2		4	91	0	0	0	1	0	4	91					A	2182081	G	A	2182081	2	1	52	1	0	0	0	0	0	0	0	1	7762	991	35	3		3	INS	11	2182081	Silent	SNP	G	TCGA-EJ-5503-01A-01D-1576-08		2182081	132824435	14	2737											
MMP3	4314	broad.mit.edu	37	chr11	102709910	102709910	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cacgcctgaaggaagagatgGccaaaatgaagagatcaaat	18	5	11	7	1	1	4	1	2	0	2	1	7	1	5	2	2	0	0	2	2	6	0			TCGA-EJ-5503-01A-01D-1576-08	TCGA-EJ-5503-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25c002f7-e972-421a-b32d-7dd675d81931	0799b439-9364-4606-a024-7f100a249f53	g.chr11:102709910G>A	ENST00000299855.5	-	7	1256	c.1000C>T	c.(1000-1002)Cca>Tca	p.P334S	WTAPP1_ENST00000525739.2_RNA	NM_002422.3	NP_002413.1	P08254	MMP3_HUMAN	matrix metallopeptidase 3 (stromelysin 1, progelatinase)	334					cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of hydrogen peroxide metabolic process (GO:0010727)|positive regulation of oxidative stress-induced cell death (GO:1903209)|proteolysis (GO:0006508)|regulation of cell migration (GO:0030334)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|endopeptidase activity (GO:0004175)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.P334S(2)		endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	22		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.0142)	Marimastat(DB00786)	GGAAGAGATGGCCAAAATGAA	0.353																																						ENST00000299855.5																			2	Substitution - Missense(2)	p.P334S(2)	prostate(2)	endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	22						c.(1000-1002)Cca>Tca		matrix metallopeptidase 3 (stromelysin 1, progelatinase)	Marimastat(DB00786)|Simvastatin(DB00641)						92	101	98					11																	102709910		2203	4299	6502	SO:0001583	missense	4314				collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding	g.chr11:102709910G>A	X05232	CCDS8323.1	11q22.3	2012-10-02	2005-08-08		ENSG00000149968	ENSG00000149968	3.4.24.17		7173	protein-coding gene	gene with protein product		185250	"matrix metalloproteinase 3 (stromelysin 1, progelatinase)"	STMY1, STMY			Standard	NM_002422		Approved		uc001phj.1	P08254	OTTHUMG00000048254	ENST00000299855.5:c.1000C>T	11.37:g.102709910G>A	ENSP00000299855:p.Pro334Ser						p.P334S	NM_002422.3	NP_002413.1	P08254	MMP3_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.0142)	7	1256	-		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	334			Hemopexin-like 1.		B2R8B8|Q3B7S0|Q6GRF8	Missense_Mutation	SNP	ENST00000299855.5	37	c.1000C>T	CCDS8323.1	.	.	.	.	.	.	.	.	.	.	G	18.74	3.688726	0.68271	.	.	ENSG00000149968	ENST00000299855	T	0.03553	3.89	5.58	5.58	0.84498	Hemopexin/matrixin, conserved site (1);Hemopexin/matrixin (2);	0.000000	0.36519	N	0.002556	T	0.18130	0.0435	M	0.71206	2.165	0.80722	D	1	D	0.57899	0.981	D	0.65987	0.94	T	0.00005	-1.2533	10	0.59425	D	0.04	.	19.769	0.96353	0.0:0.0:1.0:0.0	.	334	P08254	MMP3_HUMAN	S	334	ENSP00000299855:P334S	ENSP00000299855:P334S	P	-	1	0	MMP3	102215120	1.000000	0.71417	1.000000	0.80357	0.100000	0.18952	5.667000	0.68067	2.906000	0.99361	0.655000	0.94253	CCA		0.353	MMP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109758.2	NM_002422		4	203	0	0	0	1	0	4	203					A	102709910	G	A	102709910	3	1	52	1	0	0	0	0	1	0	0	0	9666	1203	42	3	449	3	MMP3	11	102709910	Missense_Mutation	SNP	G	TCGA-EJ-5503-01A-01D-1576-08	100527829	102709910	32296606	15	2738											
OR4D5	219875	broad.mit.edu	37	chr11	123810566	123810566	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tccatcacagcacctaggatGctggttgacttgctctcagg	8	11	10	12	0	2	1	2	1	1	0	4	2	3	2	2	3	3	4	2	3	1	3			TCGA-EJ-5503-01A-01D-1576-08	TCGA-EJ-5503-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25c002f7-e972-421a-b32d-7dd675d81931	0799b439-9364-4606-a024-7f100a249f53	g.chr11:123810566G>T	ENST00000307033.2	+	1	317	c.243G>T	c.(241-243)atG>atT	p.M81I		NM_001001965.1	NP_001001965.1	Q8NGN0	OR4D5_HUMAN	olfactory receptor, family 4, subfamily D, member 5	81						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.M81I(1)		autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		CACCTAGGATGCTGGTTGACT	0.483																																						ENST00000307033.2																			1	Substitution - Missense(1)	p.M81I(1)	prostate(1)	autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						c.(241-243)atG>atT		olfactory receptor, family 4, subfamily D, member 5							166	138	148					11																	123810566		2202	4299	6501	SO:0001583	missense	219875				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:123810566G>T	BK004316	CCDS31699.1	11q24.1	2012-08-09			ENSG00000171014	ENSG00000171014		"GPCR / Class A : Olfactory receptors"	14852	protein-coding gene	gene with protein product							Standard	NM_001001965		Approved		uc001pzk.1	Q8NGN0	OTTHUMG00000165961	ENST00000307033.2:c.243G>T	11.37:g.123810566G>T	ENSP00000305970:p.Met81Ile						p.M81I	NM_001001965.1	NP_001001965.1	Q8NGN0	OR4D5_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)	1	317	+		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	81					B9EGZ4|Q6IFE6	Missense_Mutation	SNP	ENST00000307033.2	37	c.243G>T	CCDS31699.1	.	.	.	.	.	.	.	.	.	.	G	17.71	3.457525	0.63401	.	.	ENSG00000171014	ENST00000307033	T	0.05513	3.43	5.28	5.28	0.74379	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000015	T	0.11110	0.0271	M	0.70903	2.155	0.32225	N	0.574706	B	0.14438	0.01	B	0.09377	0.004	T	0.01464	-1.1348	10	0.66056	D	0.02	-21.7369	14.5707	0.68208	0.0:0.191:0.809:0.0	.	81	Q8NGN0	OR4D5_HUMAN	I	81	ENSP00000305970:M81I	ENSP00000305970:M81I	M	+	3	0	OR4D5	123315776	1.000000	0.71417	1.000000	0.80357	0.763000	0.43281	3.245000	0.51407	2.457000	0.83068	0.655000	0.94253	ATG		0.483	OR4D5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387263.1	NM_001001965		4	240	1	0	1	1	1	4	240					T	123810566	G	T	123810566	3	4	52	1	0	0	0	0	1	0	0	0	11057	1319	46	5	245	5	OR4D5	11	123810566	Missense_Mutation	SNP	G	TCGA-EJ-5503-01A-01D-1576-08	21100656	123810566	11195950	16	2739											
B3GNT4	79369	broad.mit.edu	37	chr12	122690955	122690955	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgctcttcctgaggaaggcgGccaagcccgcaggagacccc	8	5	13	15	2	1	2	0	1	1	1	2	4	2	3	5	4	2	2	5	4	2	1			TCGA-EJ-5503-01A-01D-1576-08	TCGA-EJ-5503-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25c002f7-e972-421a-b32d-7dd675d81931	0799b439-9364-4606-a024-7f100a249f53	g.chr12:122690955G>A	ENST00000324189.4	+	3	513	c.157G>A	c.(157-159)Gcc>Acc	p.A53T	B3GNT4_ENST00000545141.1_Intron|B3GNT4_ENST00000546192.1_Missense_Mutation_p.A28T|B3GNT4_ENST00000535274.1_Missense_Mutation_p.A28T	NM_030765.2	NP_110392.1	Q9C0J1	B3GN4_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 4	53					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	galactosyltransferase activity (GO:0008378)	p.A53T(1)		NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	13	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000297)|Epithelial(86;0.000497)|BRCA - Breast invasive adenocarcinoma(302;0.222)		GAGGAAGGCGGCCAAGCCCGC	0.662																																						ENST00000535274.1																			1	Substitution - Missense(1)	p.A53T(1)	prostate(1)	NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	13						c.(82-84)Gcc>Acc		UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 4							80	85	83					12																	122690955		2203	4300	6503	SO:0001583	missense	79369				protein glycosylation	Golgi membrane|integral to membrane	galactosyltransferase activity	g.chr12:122690955G>A	AB049586	CCDS9227.1	12q24	2013-02-19						"Beta 3-glycosyltransferases"	15683	protein-coding gene	gene with protein product		605864				11042166	Standard	NM_030765		Approved	B3GN-T4, beta3Gn-T4	uc001ubx.3	Q9C0J1		ENST00000324189.4:c.157G>A	12.37:g.122690955G>A	ENSP00000319636:p.Ala53Thr					B3GNT4_ENST00000324189.4_Missense_Mutation_p.A53T|B3GNT4_ENST00000546192.1_Missense_Mutation_p.A28T|B3GNT4_ENST00000545141.1_Intron	p.A28T			Q9C0J1	B3GN4_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000297)|Epithelial(86;0.000497)|BRCA - Breast invasive adenocarcinoma(302;0.222)	1	1809	+	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		53					Q8N5W4|Q8N934|Q8ND21|Q8WWR5|Q8WY02|Q96QH5	Missense_Mutation	SNP	ENST00000324189.4	37	c.82G>A	CCDS9227.1	.	.	.	.	.	.	.	.	.	.	G	2.644	-0.283515	0.05642	.	.	ENSG00000176383	ENST00000324189;ENST00000546192;ENST00000535274	T;T;T	0.35789	1.41;1.29;1.29	4.78	0.161	0.14977	.	1.534110	0.04093	N	0.311672	T	0.21801	0.0525	N	0.25647	0.755	0.09310	N	1	B	0.12013	0.005	B	0.06405	0.002	T	0.13980	-1.0489	10	0.13108	T	0.6	.	3.027	0.06094	0.1621:0.3695:0.3403:0.1281	.	53	Q9C0J1	B3GN4_HUMAN	T	53;28;28	ENSP00000319636:A53T;ENSP00000438840:A28T;ENSP00000444534:A28T	ENSP00000319636:A53T	A	+	1	0	B3GNT4	121256908	0.019000	0.18553	0.003000	0.11579	0.222000	0.24845	0.240000	0.18042	0.420000	0.25954	0.655000	0.94253	GCC		0.662	B3GNT4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000401595.1	NM_030765		4	130	0	0	0	1	0	4	130					A	122690955	G	A	122690955	3	1	52	1	0	0	0	0	1	0	0	0	1259	1203	42	3	163	3	B3GNT4	12	122690955	Missense_Mutation	SNP	G	TCGA-EJ-5503-01A-01D-1576-08		122690955	11160940	17	2740											
ERCC5	2073	broad.mit.edu	37	chr13	103514446	103514446	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ttcttccagcaaaatgcacgGcatgtcttttgacgtgaagt	10	13	9	9	2	2	2	0	2	2	0	3	2	3	2	1	1	2	3	1	1	3	4			TCGA-EJ-5503-01A-01D-1576-08	TCGA-EJ-5503-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25c002f7-e972-421a-b32d-7dd675d81931	0799b439-9364-4606-a024-7f100a249f53	g.chr13:103514446G>A	ENST00000355739.4	+	8	2370	c.947G>A	c.(946-948)gGc>gAc	p.G316D	BIVM-ERCC5_ENST00000602836.1_Silent_p.R741R|ERCC5_ENST00000375954.1_5'Flank	NM_000123.3	NP_000114	P28715	ERCC5_HUMAN	excision repair cross-complementation group 5	316					DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|negative regulation of apoptotic process (GO:0043066)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|nucleotide-excision repair, DNA incision, 3'-to lesion (GO:0006295)|response to UV (GO:0009411)|response to UV-C (GO:0010225)|transcription-coupled nucleotide-excision repair (GO:0006283)|UV protection (GO:0009650)	intermediate filament cytoskeleton (GO:0045111)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	bubble DNA binding (GO:0000405)|double-stranded DNA binding (GO:0003690)|endodeoxyribonuclease activity (GO:0004520)|endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein N-terminus binding (GO:0047485)|single-stranded DNA binding (GO:0003697)	p.G316D(2)		breast(3)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	51	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					AAAATGCACGGCATGTCTTTT	0.418			"Mis, N, F"			"skin basal cell, skin squamous cell, melanoma"		Nucleotide excision repair (NER)	Xeroderma Pigmentosum																													ENST00000355739.4			yes	Rec		Xeroderma pigmentosum (G)	13	13q33	2073	"Mis, N, F"	"excision repair cross-complementing rodent repair deficiency, complementation group 5 (xeroderma pigmentosum, complementation group G (Cockayne syndrome))"			E		"skin basal cell, skin squamous cell, melanoma"			2	Substitution - Missense(2)	p.G316D(2)	prostate(2)	breast(3)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	51						c.(946-948)gGc>gAc	Nucleotide excision repair (NER)	excision repair cross-complementing rodent repair deficiency, complementation group 5							127	134	132					13																	103514446		2203	4300	6503	SO:0001583	missense	2073	Xeroderma Pigmentosum	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV				g.chr13:103514446G>A	X71342	CCDS32004.1	13q22-q34	2014-09-17	2014-03-07		ENSG00000134899	ENSG00000134899			3437	protein-coding gene	gene with protein product	"Cockayne syndrome"	133530	"xeroderma pigmentosum, complementation group G", "excision repair cross-complementing rodent repair deficiency, complementation group 5"	ERCM2, XPGC		8088806	Standard	NM_000123		Approved			P28715	OTTHUMG00000017310	ENST00000355739.4:c.947G>A	13.37:g.103514446G>A	ENSP00000347978:p.Gly316Asp					BIVM-ERCC5_ENST00000602836.1_Silent_p.R741R	p.G316D	NM_000123.3	NP_000114.2					8	2370	+	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)							A6NGT4|Q5JUS4|Q5JUS5|Q7Z2V3|Q8IZL6|Q8N1B7|Q9HD59|Q9HD60	Missense_Mutation	SNP	ENST00000355739.4	37	c.947G>A	CCDS32004.1	.	.	.	.	.	.	.	.	.	.	G	10.80	1.453439	0.26161	.	.	ENSG00000134899	ENST00000418659;ENST00000355739;ENST00000375955	T	0.17854	2.25	4.74	2.97	0.34412	.	0.663319	0.16253	N	0.222606	T	0.07773	0.0195	N	0.14661	0.345	0.20307	N	0.999918	B;B;B	0.11235	0.0;0.0;0.004	B;B;B	0.01281	0.0;0.0;0.0	T	0.37776	-0.9691	10	0.12430	T	0.62	-6.5681	5.1355	0.14932	0.4244:0.0:0.5756:0.0	.	316;316;741	B4DSI5;P28715;Q59FZ7	.;ERCC5_HUMAN;.	D	741;316;148	ENSP00000347978:G316D	ENSP00000347978:G316D	G	+	2	0	ERCC5	102312447	0.003000	0.15002	0.004000	0.12327	0.789000	0.44602	0.959000	0.29240	1.102000	0.41551	0.655000	0.94253	GGC		0.418	ERCC5-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045708.1			5	430	0	0	0	1	0	5	430					A	103514446	G	A	103514446	3	1	52	1	0	0	0	0	1	0	0	0	5216	1203	42	3	977	3	ERCC5	13	103514446	Missense_Mutation	SNP	G	TCGA-EJ-5503-01A-01D-1576-08		103514446	11655432	18	2741											
EML5	161436	broad.mit.edu	37	chr14	89083083	89083083	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacttacaaatttttctggaCatgggaagtcaaataactta	16	13	6	6	0	2	0	1	0	1	0	2	2	2	2	0	2	3	0	0	2	7	5			TCGA-EJ-5503-01A-01D-1576-08	TCGA-EJ-5503-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25c002f7-e972-421a-b32d-7dd675d81931	0799b439-9364-4606-a024-7f100a249f53	g.chr14:89083083C>T	ENST00000380664.5	-	40	5758	c.5759G>A	c.(5758-5760)tGt>tAt	p.C1920Y	EML5_ENST00000352093.5_Missense_Mutation_p.C1882Y|EML5_ENST00000554922.1_Missense_Mutation_p.C1928Y			Q05BV3	EMAL5_HUMAN	echinoderm microtubule associated protein like 5	1920						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)	catalytic activity (GO:0003824)	p.C1928Y(2)		breast(1)|endometrium(3)|kidney(4)|large_intestine(17)|lung(14)|ovary(3)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						TTTTTCTGGACATGGGAAGTC	0.348																																						ENST00000554922.1																			2	Substitution - Missense(2)	p.C1928Y(2)	prostate(2)	breast(1)|endometrium(3)|kidney(4)|large_intestine(17)|lung(14)|ovary(3)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						c.(5782-5784)tGt>tAt		echinoderm microtubule associated protein like 5							58	54	55					14																	89083083		1857	4091	5948	SO:0001583	missense	161436					cytoplasm|microtubule		g.chr14:89083083C>T	AY357725	CCDS45148.1	14q31.3	2013-01-10				ENSG00000165521		"WD repeat domain containing"	18197	protein-coding gene	gene with protein product							Standard	NM_183387		Approved	HuEMAP-2, EMAP-2	uc021ryf.1	Q05BV3		ENST00000380664.5:c.5759G>A	14.37:g.89083083C>T	ENSP00000370039:p.Cys1920Tyr					EML5_ENST00000352093.5_Missense_Mutation_p.C1882Y|EML5_ENST00000380664.5_Missense_Mutation_p.C1920Y	p.C1928Y	NM_183387.2	NP_899243.1	Q05BV3	EMAL5_HUMAN			42	6031	-			1920	K -> R (in Ref. 2; AAI50640).				B9EK59|Q5H9N6|Q6UYC9|Q6ZRP3|Q6ZT03	Missense_Mutation	SNP	ENST00000380664.5	37	c.5783G>A	CCDS45148.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.307942	0.81247	.	.	ENSG00000165521	ENST00000554922;ENST00000352093;ENST00000380664	T;T;T	0.16597	2.33;2.33;2.33	5.26	5.26	0.73747	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.49525	0.1562	M	0.89414	3.03	0.80722	D	1	D	0.69078	0.997	D	0.66351	0.943	T	0.58999	-0.7536	10	0.87932	D	0	-13.8721	19.2291	0.93831	0.0:1.0:0.0:0.0	.	1920	Q05BV3	EMAL5_HUMAN	Y	1928;1882;1920	ENSP00000451998:C1928Y;ENSP00000298315:C1882Y;ENSP00000370039:C1920Y	ENSP00000298315:C1882Y	C	-	2	0	EML5	88152836	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.693000	0.68264	2.614000	0.88457	0.655000	0.94253	TGT		0.348	EML5-010	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000410491.1			4	49	0	0	0	1	0	4	49					T	89083083	C	T	89083083	3	4	52	1	0	0	0	0	1	0	0	0	5100	478	17	3	162	3	EML5	14	89083083	Missense_Mutation	SNP	C	TCGA-EJ-5503-01A-01D-1576-08		89083083	18266457	19	2742											
MKRN3	7681	broad.mit.edu	37	chr15	23812105	23812105	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaacttattcagcaatacaaGgaggcaatgagcaacaaggc	18	6	9	8	0	1	1	1	1	0	0	1	2	1	2	0	3	5	3	0	3	8	3			TCGA-EJ-5503-01A-01D-1576-08	TCGA-EJ-5503-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25c002f7-e972-421a-b32d-7dd675d81931	0799b439-9364-4606-a024-7f100a249f53	g.chr15:23812105G>T	ENST00000314520.3	+	1	1652	c.1176G>T	c.(1174-1176)aaG>aaT	p.K392N	MKRN3_ENST00000564592.1_Missense_Mutation_p.K152N|RP11-73C9.1_ENST00000563044.1_RNA|MKRN3_ENST00000568252.1_Intron|MKRN3_ENST00000568945.1_3'UTR	NM_005664.3	NP_005655.1	Q13064	MKRN3_HUMAN	makorin ring finger protein 3	392					protein ubiquitination (GO:0016567)	ribonucleoprotein complex (GO:0030529)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)	p.K392N(1)		breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(33)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14)		all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012)		AGCAATACAAGGAGGCAATGA	0.502																																						ENST00000314520.3																			1	Substitution - Missense(1)	p.K392N(1)	prostate(1)	breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(33)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						c.(1174-1176)aaG>aaT		makorin ring finger protein 3							102	101	101					15																	23812105		2203	4300	6503	SO:0001583	missense	7681					ribonucleoprotein complex	ligase activity|nucleic acid binding|zinc ion binding	g.chr15:23812105G>T	U19107	CCDS10013.1	15q11-q13	2013-01-09	2008-08-13		ENSG00000179455	ENSG00000179455		"RING-type (C3HC4) zinc fingers"	7114	protein-coding gene	gene with protein product	"zinc finger protein 127"	603856		ZNF127, D15S9		10196367	Standard	NM_005664		Approved	RNF63, ZFP127, MGC88288	uc001ywh.4	Q13064	OTTHUMG00000129160	ENST00000314520.3:c.1176G>T	15.37:g.23812105G>T	ENSP00000313881:p.Lys392Asn					MKRN3_ENST00000568252.1_Intron|MKRN3_ENST00000568945.1_3'UTR|MKRN3_ENST00000564592.1_Missense_Mutation_p.K152N	p.K392N	NM_005664.3	NP_005655.1	Q13064	MKRN3_HUMAN		all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012)	1	1652	+		all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14)	392						Missense_Mutation	SNP	ENST00000314520.3	37	c.1176G>T	CCDS10013.1	.	.	.	.	.	.	.	.	.	.	G	10.30	1.311801	0.23821	.	.	ENSG00000179455	ENST00000314520	T	0.46451	0.87	4.01	0.117	0.14652	.	0.110120	0.64402	D	0.000013	T	0.55737	0.1939	M	0.85041	2.73	0.54753	D	0.999988	D	0.64830	0.994	P	0.57548	0.823	T	0.56589	-0.7954	10	0.66056	D	0.02	.	7.1947	0.25845	0.4833:0.0:0.5167:0.0	.	392	Q13064	MKRN3_HUMAN	N	392	ENSP00000313881:K392N	ENSP00000313881:K392N	K	+	3	2	MKRN3	21363198	1.000000	0.71417	0.955000	0.39395	0.093000	0.18481	0.971000	0.29396	0.031000	0.15407	-1.202000	0.01658	AAG		0.502	MKRN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251225.1	NM_005664		7	144	1	0	0.00307968	1	0.00360762	7	144					T	23812105	G	T	23812105	3	4	52	1	0	0	0	0	1	0	0	0	9608	991	35	5	1178	5	MKRN3	15	23812105	Missense_Mutation	SNP	G	TCGA-EJ-5503-01A-01D-1576-08		23812105	78719287	20	2743											
ABCA3	21	broad.mit.edu	37	chr16	2354107	2354107	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cccgaagcagaagtcgtcgtCcacgttgacgggactcagga	10	6	13	12	5	1	2	1	1	0	1	4	5	2	4	2	2	1	2	2	2	2	1			TCGA-EJ-5503-01A-01D-1576-08	TCGA-EJ-5503-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25c002f7-e972-421a-b32d-7dd675d81931	0799b439-9364-4606-a024-7f100a249f53	g.chr16:2354107C>T	ENST00000301732.5	-	12	2030	c.1330G>A	c.(1330-1332)Gac>Aac	p.D444N	ABCA3_ENST00000382381.3_Missense_Mutation_p.D386N	NM_001089.2	NP_001080.2	Q99758	ABCA3_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 3	444					response to drug (GO:0042493)|transmembrane transport (GO:0055085)|transport (GO:0006810)	alveolar lamellar body (GO:0097208)|alveolar lamellar body membrane (GO:0097233)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)	p.D444N(1)		breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1)	70		Ovarian(90;0.17)			Imatinib(DB00619)	AAGTCGTCGTCCACGTTGACG	0.632																																						ENST00000301732.5																			1	Substitution - Missense(1)	p.D444N(1)	prostate(1)	breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1)	70						c.(1330-1332)Gac>Aac		ATP-binding cassette, sub-family A (ABC1), member 3							171	151	158					16																	2354107		2198	4300	6498	SO:0001583	missense	21				response to drug	integral to membrane|lamellar body|membrane fraction|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr16:2354107C>T	U78735	CCDS10466.1	16p13.3	2012-03-14			ENSG00000167972	ENSG00000167972		"ATP binding cassette transporters / subfamily A"	33	protein-coding gene	gene with protein product		601615		ABC3		8706931	Standard	NM_001089		Approved	ABC-C, EST111653, LBM180	uc002cpy.1	Q99758	OTTHUMG00000128845	ENST00000301732.5:c.1330G>A	16.37:g.2354107C>T	ENSP00000301732:p.Asp444Asn					ABCA3_ENST00000382381.3_Missense_Mutation_p.D386N	p.D444N	NM_001089.2	NP_001080.2	Q99758	ABCA3_HUMAN			12	2030	-		Ovarian(90;0.17)	444					B2RU09|Q54A95|Q6P5P9|Q92473	Missense_Mutation	SNP	ENST00000301732.5	37	c.1330G>A	CCDS10466.1	.	.	.	.	.	.	.	.	.	.	C	14.97	2.693608	0.48202	.	.	ENSG00000167972	ENST00000301732;ENST00000382381	D	0.88975	-2.45	5.64	4.69	0.59074	.	0.156294	0.56097	D	0.000026	D	0.91663	0.7365	M	0.69358	2.11	0.80722	D	1	P;B;P	0.51240	0.943;0.005;0.943	P;B;P	0.57548	0.823;0.009;0.823	D	0.91416	0.5155	10	0.48119	T	0.1	.	12.2217	0.54437	0.0:0.919:0.0:0.081	.	444;448;444	A7MBM9;Q4LE27;Q99758	.;.;ABCA3_HUMAN	N	444;448	ENSP00000301732:D444N	ENSP00000301732:D444N	D	-	1	0	ABCA3	2294108	1.000000	0.71417	0.088000	0.20740	0.893000	0.52053	7.317000	0.79018	1.623000	0.50342	0.650000	0.86243	GAC		0.632	ABCA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250784.2	NM_001089		5	240	0	0	0	1	0	5	240					T	2354107	C	T	2354107	3	4	52	1	0	0	0	0	1	0	0	0	33	855	30	3	3872	3	ABCA3	16	2354107	Missense_Mutation	SNP	C	TCGA-EJ-5503-01A-01D-1576-08		2354107	88000646	21	2744											
SLFN13	146857	broad.mit.edu	37	chr17	33769199	33769199	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gagaggatcacaattccctgGgagaaaggtcgcatttgctt	11	10	12	8	1	1	2	1	0	0	2	3	5	2	3	1	3	1	2	1	3	2	3			TCGA-EJ-5503-01A-01D-1576-08	TCGA-EJ-5503-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25c002f7-e972-421a-b32d-7dd675d81931	0799b439-9364-4606-a024-7f100a249f53	g.chr17:33769199G>A	ENST00000285013.6	-	5	1580	c.1305C>T	c.(1303-1305)tcC>tcT	p.S435S	SLFN13_ENST00000526861.1_Silent_p.S435S|SLFN13_ENST00000542635.1_Silent_p.S435S|SLFN13_ENST00000534689.1_Silent_p.S117S|SLFN13_ENST00000533791.1_Silent_p.S435S|SLFN13_ENST00000360502.2_Silent_p.S117S	NM_144682.5	NP_653283.3	Q68D06	SLN13_HUMAN	schlafen family member 13	435						intracellular (GO:0005622)	ATP binding (GO:0005524)	p.S435S(1)		NS(1)|breast(1)|endometrium(1)|large_intestine(10)|lung(8)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	31				UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		CAATTCCCTGGGAGAAAGGTC	0.488																																						ENST00000285013.6																			1	Substitution - coding silent(1)	p.S435S(1)	prostate(1)	NS(1)|breast(1)|endometrium(1)|large_intestine(10)|lung(8)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	31						c.(1303-1305)tcC>tcT		schlafen family member 13							91	83	86					17																	33769199		2203	4300	6503	SO:0001819	synonymous_variant	146857					intracellular	ATP binding	g.chr17:33769199G>A	AL832726	CCDS32620.1	17q12	2006-04-05				ENSG00000154760			26481	protein-coding gene	gene with protein product		614957				9846487	Standard	NM_144682		Approved	FLJ31952	uc002hjl.2	Q68D06		ENST00000285013.6:c.1305C>T	17.37:g.33769199G>A						SLFN13_ENST00000360502.2_Silent_p.S117S|SLFN13_ENST00000542635.1_Silent_p.S435S|SLFN13_ENST00000534689.1_Silent_p.S117S|SLFN13_ENST00000533791.1_Silent_p.S435S|SLFN13_ENST00000526861.1_Silent_p.S435S	p.S435S	NM_144682.5	NP_653283.3	Q68D06	SLN13_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)	5	1580	-			435					E1P645|Q658M1|Q6ZS51|Q96A81	Silent	SNP	ENST00000285013.6	37	c.1305C>T	CCDS32620.1																																																																																				0.488	SLFN13-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381883.1	NM_144682		4	130	0	0	0	1	0	4	130					A	33769199	G	A	33769199	2	1	52	1	0	0	0	0	0	0	0	1	14736	1219	43	3		3	SLFN13	17	33769199	Silent	SNP	G	TCGA-EJ-5503-01A-01D-1576-08		33769199	47426011	22	2745											
ZPBP2	124626	broad.mit.edu	37	chr17	38028691	38028691	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atcatataaatgccattctgTtgaaattccagaacatggcc	14	12	6	9	0	2	2	1	1	1	1	3	2	3	2	3	1	2	1	3	1	5	5			TCGA-EJ-5503-01A-01D-1576-08	TCGA-EJ-5503-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25c002f7-e972-421a-b32d-7dd675d81931	0799b439-9364-4606-a024-7f100a249f53	g.chr17:38028691T>C	ENST00000348931.4	+	5	766	c.575T>C	c.(574-576)gTt>gCt	p.V192A	ZPBP2_ENST00000584588.1_Intron|ZPBP2_ENST00000377940.3_Missense_Mutation_p.V170A	NM_199321.2	NP_955353.1	Q6X784	ZPBP2_HUMAN	zona pellucida binding protein 2	192					acrosome assembly (GO:0001675)|binding of sperm to zona pellucida (GO:0007339)	acrosomal vesicle (GO:0001669)|cell body (GO:0044297)|extracellular region (GO:0005576)|nucleus (GO:0005634)|zona pellucida receptor complex (GO:0002199)		p.V192A(1)		kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	15	Colorectal(19;0.000442)		Lung(15;0.00849)|LUSC - Lung squamous cell carcinoma(15;0.171)			TGCCATTCTGTTGAAATTCCA	0.303																																						ENST00000377940.3																			1	Substitution - Missense(1)	p.V192A(1)	prostate(1)	kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	15						c.(508-510)gTt>gCt		zona pellucida binding protein 2							73	66	68					17																	38028691		2202	4299	6501	SO:0001583	missense	124626				binding of sperm to zona pellucida	extracellular region		g.chr17:38028691T>C	BC043152	CCDS11352.1, CCDS11353.2	17q21.1	2013-01-11			ENSG00000186075	ENSG00000186075		"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	20678	protein-coding gene	gene with protein product		608499					Standard	XM_005257031		Approved	ZPBPL, MGC41930	uc002hte.3	Q6X784	OTTHUMG00000133022	ENST00000348931.4:c.575T>C	17.37:g.38028691T>C	ENSP00000335384:p.Val192Ala					ZPBP2_ENST00000584588.1_Intron|ZPBP2_ENST00000348931.4_Missense_Mutation_p.V192A	p.V170A	NM_198844.2	NP_942141.2	Q6X784	ZPBP2_HUMAN	Lung(15;0.00849)|LUSC - Lung squamous cell carcinoma(15;0.171)		4	648	+	Colorectal(19;0.000442)		192					A8K8L8|Q6X783|Q86XL5	Missense_Mutation	SNP	ENST00000348931.4	37	c.509T>C	CCDS11352.1	.	.	.	.	.	.	.	.	.	.	T	10.83	1.461109	0.26248	.	.	ENSG00000186075	ENST00000348931;ENST00000377940	T;T	0.59638	0.25;0.25	5.48	5.48	0.80851	.	0.545013	0.16792	N	0.199346	T	0.69070	0.3070	M	0.72894	2.215	0.22305	N	0.999214	D;P	0.58268	0.982;0.951	P;P	0.54889	0.763;0.76	T	0.64063	-0.6495	10	0.51188	T	0.08	-15.1354	13.8112	0.63264	0.0:0.0:0.0:1.0	.	170;192	Q6X784-2;Q6X784	.;ZPBP2_HUMAN	A	192;170	ENSP00000335384:V192A;ENSP00000367174:V170A	ENSP00000335384:V192A	V	+	2	0	ZPBP2	35282217	1.000000	0.71417	0.985000	0.45067	0.665000	0.39181	4.703000	0.61824	2.075000	0.62263	0.377000	0.23210	GTT		0.303	ZPBP2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256609.2	NM_198844		3	126	0	0	0	1	0	3	126					C	38028691	T	C	38028691	3	2	52	1	0	0	0	0	1	0	0	0	18217	1725	60	4	593	4	ZPBP2	17	38028691	Missense_Mutation	SNP	T	TCGA-EJ-5503-01A-01D-1576-08	4259492	38028691	43166519	23	2746											
RPS6KB1	6198	broad.mit.edu	37	chr17	58009016	58009016	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gaaatctccatggctttgggGcatttacatcaaaaggggat	12	11	11	7	0	2	0	1	0	1	0	3	2	2	1	1	5	1	2	1	5	4	3			TCGA-EJ-5503-01A-01D-1576-08	TCGA-EJ-5503-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25c002f7-e972-421a-b32d-7dd675d81931	0799b439-9364-4606-a024-7f100a249f53	g.chr17:58009016G>A	ENST00000225577.4	+	7	642	c.621G>A	c.(619-621)ggG>ggA	p.G207G	RPS6KB1_ENST00000406116.3_Silent_p.G207G|RPS6KB1_ENST00000443572.2_Silent_p.G184G|RPS6KB1_ENST00000393021.3_Silent_p.G154G	NM_001272042.1|NM_001272044.1|NM_001272060.1|NM_003161.2	NP_001258971.1|NP_001258973.1|NP_001258989.1|NP_003152.1	P23443	KS6B1_HUMAN	ribosomal protein S6 kinase, 70kDa, polypeptide 1	207	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				aging (GO:0007568)|apoptotic process (GO:0006915)|cell migration (GO:0016477)|cellular response to growth factor stimulus (GO:0071363)|G1/S transition of mitotic cell cycle (GO:0000082)|germ cell development (GO:0007281)|insulin receptor signaling pathway (GO:0008286)|long-term memory (GO:0007616)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of insulin receptor signaling pathway (GO:0046627)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of skeletal muscle tissue growth (GO:0048633)|positive regulation of smooth muscle cell migration (GO:0014911)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of translation (GO:0045727)|positive regulation of translational initiation (GO:0045948)|protein kinase B signaling (GO:0043491)|protein phosphorylation (GO:0006468)|regulation of glucose import (GO:0046324)|response to drug (GO:0042493)|response to electrical stimulus involved in regulation of muscle adaptation (GO:0014878)|response to ethanol (GO:0045471)|response to glucagon (GO:0033762)|response to glucocorticoid (GO:0051384)|response to glucose (GO:0009749)|response to heat (GO:0009408)|response to leucine (GO:0043201)|response to lipopolysaccharide (GO:0032496)|response to mechanical stimulus (GO:0009612)|response to nutrient (GO:0007584)|response to testosterone (GO:0033574)|response to toxic substance (GO:0009636)|response to tumor necrosis factor (GO:0034612)|response to wounding (GO:0009611)|signal transduction (GO:0007165)|skeletal muscle atrophy (GO:0014732)|skeletal muscle contraction (GO:0003009)|TOR signaling (GO:0031929)	cell junction (GO:0030054)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|synapse (GO:0045202)	ATP binding (GO:0005524)|peptide binding (GO:0042277)|protein kinase activity (GO:0004672)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|ribosomal protein S6 kinase activity (GO:0004711)			endometrium(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	14	all_cancers(5;1.63e-13)|Breast(5;2.91e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;3.57e-12)|all cancers(12;6.41e-11)			TGGCTTTGGGGCATTTACATC	0.368																																						ENST00000225577.4																			0				endometrium(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	14						c.(619-621)ggG>ggA		ribosomal protein S6 kinase, 70kDa, polypeptide 1							63	64	63					17																	58009016		2203	4300	6503	SO:0001819	synonymous_variant	6198				apoptosis|G1/S transition of mitotic cell cycle|insulin receptor signaling pathway|negative regulation of apoptosis|phosphatidylinositol-mediated signaling|positive regulation of mitotic cell cycle|positive regulation of translational initiation|TOR signaling cascade	cell junction|cytoplasm|cytosol|mitochondrial outer membrane|nucleus|synapse|synaptosome	ATP binding|protein binding|protein kinase activity	g.chr17:58009016G>A	M60724	CCDS11621.1, CCDS62271.1, CCDS62272.1, CCDS62273.1	17q23.1	2011-04-05	2002-08-29		ENSG00000108443	ENSG00000108443			10436	protein-coding gene	gene with protein product		608938	"ribosomal protein S6 kinase, 70kD, polypeptide 1"	STK14A		1922062	Standard	NM_003161		Approved	S6K1, p70(S6K)-alpha, PS6K	uc002ixy.4	P23443	OTTHUMG00000150642	ENST00000225577.4:c.621G>A	17.37:g.58009016G>A						RPS6KB1_ENST00000406116.3_Silent_p.G207G|RPS6KB1_ENST00000443572.2_Silent_p.G184G|RPS6KB1_ENST00000393021.3_Silent_p.G154G	p.G207G	NM_001272042.1|NM_001272044.1|NM_001272060.1|NM_003161.2	NP_001258971.1|NP_001258973.1|NP_001258989.1|NP_003152.1	P23443	KS6B1_HUMAN	Epithelial(12;3.57e-12)|all cancers(12;6.41e-11)		7	642	+	all_cancers(5;1.63e-13)|Breast(5;2.91e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		207			Protein kinase.		B2R779|B4DLT4|B4DTG1|E7ESB8|F6UYM1|Q7Z721	Silent	SNP	ENST00000225577.4	37	c.621G>A	CCDS11621.1																																																																																				0.368	RPS6KB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319324.1	NM_003161		4	161	0	0	0	1	0	4	161					A	58009016	G	A	58009016	2	1	52	1	0	0	0	0	0	0	0	1	13656	1190	42	3		3	RPS6KB1	17	58009016	Silent	SNP	G	TCGA-EJ-5503-01A-01D-1576-08	19980325	58009016	23186194	24	2747											
H1F0	3005	broad.mit.edu	37	chr22	38202050	38202050	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ccaagactgtcaaagccaagCcggtcaaggcatccaagccc	13	4	9	15	1	2	1	2	0	0	1	3	1	3	1	5	2	3	1	5	2	5	0			TCGA-EJ-5503-01A-01D-1576-08	TCGA-EJ-5503-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25c002f7-e972-421a-b32d-7dd675d81931	0799b439-9364-4606-a024-7f100a249f53	g.chr22:38202050C>T	ENST00000340857.2	+	1	937	c.499C>T	c.(499-501)Ccg>Tcg	p.P167S	GCAT_ENST00000323205.6_5'Flank|GCAT_ENST00000248924.6_5'Flank	NM_005318.3	NP_005309.1	P07305	H10_HUMAN	H1 histone family, member 0	167					apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|nucleosome assembly (GO:0006334)	actin cytoskeleton (GO:0015629)|Golgi apparatus (GO:0005794)|nuclear chromatin (GO:0000790)|nuclear euchromatin (GO:0005719)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|poly(A) RNA binding (GO:0044822)	p.P167S(1)		cervix(1)|endometrium(1)|kidney(2)|prostate(2)|urinary_tract(1)	7	Melanoma(58;0.045)					CAAAGCCAAGCCGGTCAAGGC	0.522																																					NSCLC(191;1872 2984 30230 41544)|Esophageal Squamous(4;11 371 39444 52196)	ENST00000340857.2																			1	Substitution - Missense(1)	p.P167S(1)	prostate(1)	cervix(1)|endometrium(1)|kidney(2)|prostate(2)|urinary_tract(1)	7						c.(499-501)Ccg>Tcg		H1 histone family, member 0							62	64	63					22																	38202050		2203	4300	6503	SO:0001583	missense	3005				DNA fragmentation involved in apoptotic nuclear change|nucleosome assembly	actin cytoskeleton|Golgi apparatus|nucleoplasm|nucleosome	DNA binding	g.chr22:38202050C>T	X03473	CCDS13956.1	22q13.1	2011-01-27			ENSG00000189060	ENSG00000189060		"Histones / Replication-independent"	4714	protein-coding gene	gene with protein product	"H1.0, H1(0), H1-0"	142708		H1FV		3084796	Standard	NM_005318		Approved	H10	uc003aty.3	P07305	OTTHUMG00000150659	ENST00000340857.2:c.499C>T	22.37:g.38202050C>T	ENSP00000344504:p.Pro167Ser						p.P167S	NM_005318.3	NP_005309.1	P07305	H10_HUMAN			1	937	+	Melanoma(58;0.045)		167					B2R6I0|B4DRD6|Q6FG88|Q8N6R3	Missense_Mutation	SNP	ENST00000340857.2	37	c.499C>T	CCDS13956.1	.	.	.	.	.	.	.	.	.	.	c	12.40	1.925407	0.34002	.	.	ENSG00000189060	ENST00000340857;ENST00000455466	T	0.05925	3.37	5.32	4.3	0.51218	.	0.516121	0.20262	N	0.095854	T	0.04048	0.0113	N	0.14661	0.345	0.43187	D	0.995017	B	0.25235	0.121	B	0.15870	0.014	T	0.49360	-0.8948	10	0.23302	T	0.38	.	11.2725	0.49147	0.0:0.8401:0.0:0.1599	.	167	P07305	H10_HUMAN	S	167;150	ENSP00000344504:P167S	ENSP00000344504:P167S	P	+	1	0	H1F0	36531996	1.000000	0.71417	1.000000	0.80357	0.926000	0.56050	1.898000	0.39809	1.389000	0.46526	0.655000	0.94253	CCG		0.522	H1F0-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319453.1	NM_005318		3	39	0	0	0	1	0	3	39					T	38202050	C	T	38202050	3	4	52	1	0	0	0	0	1	0	0	0	6920	739	26	3	501	3	H1F0	22	38202050	Missense_Mutation	SNP	C	TCGA-EJ-5503-01A-01D-1576-08		38202050	13102516	25	2748											
SFRS17A	8227	broad.mit.edu	37	chrX	1712960	1712960	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccgggaggagatgacgggccGcaacttccacaccttcagtt	9	7	12	13	3	1	2	1	1	0	1	2	4	2	3	4	3	1	2	4	3	1	3			TCGA-EJ-5503-01A-01D-1576-08	TCGA-EJ-5503-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25c002f7-e972-421a-b32d-7dd675d81931	0799b439-9364-4606-a024-7f100a249f53	g.chrX:1712960G>A	ENST00000313871.3	+	2	801	c.605G>A	c.(604-606)cGc>cAc	p.R202H	AKAP17A_ENST00000381261.3_Missense_Mutation_p.R202H	NM_005088.2	NP_005079.2	Q02040	AK17A_HUMAN	A kinase (PRKA) anchor protein 17A	202	RRM.				B cell activation (GO:0042113)|mRNA processing (GO:0006397)|regulation of RNA splicing (GO:0043484)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|signal transduction (GO:0007165)	nuclear speck (GO:0016607)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein kinase A binding (GO:0051018)	p.R202H(1)		breast(2)|endometrium(5)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)	26						ATGACGGGCCGCAACTTCCAC	0.607																																						ENST00000313871.3																			1	Substitution - Missense(1)	p.R202H(1)	prostate(1)	breast(2)|endometrium(5)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)	26						c.(604-606)cGc>cAc		A kinase (PRKA) anchor protein 17A							133	121	125					X																	1712960		2203	4296	6499	SO:0001583	missense	8227				B cell activation|mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|signal transduction	nuclear speck|spliceosomal complex	nucleotide binding|protein binding|RNA binding	g.chrX:1712960G>A	L03426	CCDS14116.1	Xp22.33 and Yp11.32	2010-09-08	2010-09-08	2010-09-08	ENSG00000197976	ENSG00000197976		"Pseudoautosomal regions / PAR1", "A-kinase anchor proteins"	18783	protein-coding gene	gene with protein product		312095, 465000	"chromosome X and Y open reading frame 3", "splicing factor, arginine/serine-rich 17A"	CXYorf3, SFRS17A		9736779, 1438229, 19840947	Standard	NR_027383		Approved	XE7, XE7Y, DXYS155E, MGC39904, 721P, CCDC133	uc004cqa.3	Q02040	OTTHUMG00000021063	ENST00000313871.3:c.605G>A	X.37:g.1712960G>A	ENSP00000324827:p.Arg202His					AKAP17A_ENST00000381261.3_Missense_Mutation_p.R202H	p.R202H	NM_005088.2	NP_005079.2	Q02040	AK17A_HUMAN			2	801	+			202			RRM.		Q02832|Q2TB98|Q5JQ74|Q5JQ76|Q8N6U9	Missense_Mutation	SNP	ENST00000313871.3	37	c.605G>A	CCDS14116.1	.	.	.	.	.	.	.	.	.	.	g	8.011	0.757547	0.15846	.	.	ENSG00000197976	ENST00000313871;ENST00000381261	T;T	0.32988	1.43;1.43	1.83	0.897	0.19258	Nucleotide-binding, alpha-beta plait (1);	0.244102	0.29868	U	0.010997	T	0.34424	0.0897	.	.	.	0.21416	N	0.999697	D;D	0.67145	0.996;0.99	P;P	0.54431	0.648;0.752	T	0.19549	-1.0302	9	0.31617	T	0.26	.	8.4731	0.32997	0.1332:0.0:0.8668:0.0	.	202;202	Q02040-3;Q02040	.;AK17A_HUMAN	H	202	ENSP00000324827:R202H;ENSP00000370660:R202H	ENSP00000324827:R202H	R	+	2	0	AKAP17A	1672960	1.000000	0.71417	0.030000	0.17652	0.349000	0.29174	5.072000	0.64389	-0.129000	0.11620	0.100000	0.15512	CGC		0.607	AKAP17A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055609.2	NM_005088		4	180	0	0	0	1	0	4	180					A	1712960	G	A	1712960	3	1	52	1	0	0	0	0	1	0	0	0	14173	1087	38	1	607	1	SFRS17A	23	1712960	Missense_Mutation	SNP	G	TCGA-EJ-5503-01A-01D-1576-08		1712960	153557600	26	2749											
CROCC	9696	broad.mit.edu	37	chr1	17295800	17295800	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acctgcatctgcagaaggctCtgaccgcctgtgaacatgac	10	8	10	13	1	2	4	0	3	2	1	2	4	2	4	3	1	3	3	3	1	2	0			TCGA-EJ-5504-01A-01D-1576-08	TCGA-EJ-5504-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bd30acf-01c3-4c96-a016-63e8dce66217	316ecb66-2802-4972-9bdc-f11fd7f67801	g.chr1:17295800C>G	ENST00000375541.5	+	32	5335	c.5266C>G	c.(5266-5268)Ctg>Gtg	p.L1756V		NM_014675.3	NP_055490.3			ciliary rootlet coiled-coil, rootletin									p.L1756V(1)		breast(3)|central_nervous_system(2)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(1)|lung(20)|ovary(3)|prostate(9)|skin(3)|urinary_tract(1)	62		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)		GCAGAAGGCTCTGACCGCCTG	0.652																																						ENST00000375541.5																			1	Substitution - Missense(1)	p.L1756V(1)	prostate(1)	breast(3)|central_nervous_system(2)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(1)|lung(20)|ovary(3)|prostate(9)|skin(3)|urinary_tract(1)	62						c.(5266-5268)Ctg>Gtg		ciliary rootlet coiled-coil, rootletin							26	26	26					1																	17295800		2202	4300	6502	SO:0001583	missense	9696				cell cycle|cell projection organization|centrosome organization|protein localization	actin cytoskeleton|centriole|ciliary rootlet|plasma membrane	kinesin binding|structural molecule activity	g.chr1:17295800C>G	AB007914	CCDS30616.1	1p36.13	2010-06-04	2009-03-04	2009-03-04	ENSG00000058453	ENSG00000058453			21299	protein-coding gene	gene with protein product	"rootletin, ciliary rootlet protein"	615776				12427867, 17971504	Standard	XM_006711056		Approved	rootletin, ROLT	uc001azt.2	Q5TZA2	OTTHUMG00000002200	ENST00000375541.5:c.5266C>G	1.37:g.17295800C>G	ENSP00000364691:p.Leu1756Val						p.L1756V	NM_014675.3	NP_055490.3	Q5TZA2	CROCC_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)	32	5335	+		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)	1756						Missense_Mutation	SNP	ENST00000375541.5	37	c.5266C>G	CCDS30616.1	.	.	.	.	.	.	.	.	.	.	C	15.33	2.802009	0.50315	.	.	ENSG00000058453	ENST00000375541;ENST00000445545	T	0.12465	2.68	4.62	1.67	0.24075	.	.	.	.	.	T	0.28200	0.0696	M	0.70842	2.15	0.47037	D	0.999299	P;D;P	0.54397	0.909;0.966;0.916	P;P;P	0.62813	0.863;0.881;0.907	T	0.00926	-1.1512	9	0.39692	T	0.17	.	8.0689	0.30678	0.0:0.7153:0.0:0.2847	.	1637;1059;1756	B1AKD8;Q5TZA2-2;Q5TZA2	.;.;CROCC_HUMAN	V	1756;1637	ENSP00000364691:L1756V	ENSP00000364691:L1756V	L	+	1	2	CROCC	17168387	0.791000	0.28800	0.451000	0.26982	0.896000	0.52359	1.441000	0.35035	0.142000	0.18901	-0.424000	0.05967	CTG		0.652	CROCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006249.2	NM_014675		7	12	0	0	0	1	0	7	12					G	17295800	C	G	17295800	3	3	53	1	0	0	0	0	1	0	0	0	3893	912	32	5	5392	5	CROCC	1	17295800	Missense_Mutation	SNP	C	TCGA-EJ-5504-01A-01D-1576-08		17295800	231954821	1	2750											
PCSK9	255738	broad.mit.edu	37	chr1	55521763	55521763	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tacagccgcgtcctcaacgcCgcctgccagcgcctggcgag	6	5	12	18	6	1	0	1	0	0	0	2	1	2	0	6	1	5	0	6	1	2	1			TCGA-EJ-5504-01A-01D-1576-08	TCGA-EJ-5504-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bd30acf-01c3-4c96-a016-63e8dce66217	316ecb66-2802-4972-9bdc-f11fd7f67801	g.chr1:55521763C>T	ENST00000302118.5	+	6	1187	c.897C>T	c.(895-897)gcC>gcT	p.A299A	PCSK9_ENST00000543384.1_Silent_p.A99A|PCSK9_ENST00000490692.1_3'UTR	NM_174936.3	NP_777596.2	Q8NBP7	PCSK9_HUMAN	proprotein convertase subtilisin/kexin type 9	299	Peptidase S8.				apoptotic process (GO:0006915)|cellular response to insulin stimulus (GO:0032869)|cellular response to starvation (GO:0009267)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|kidney development (GO:0001822)|lipoprotein metabolic process (GO:0042157)|liver development (GO:0001889)|low-density lipoprotein particle receptor catabolic process (GO:0032802)|lysosomal transport (GO:0007041)|negative regulation of low-density lipoprotein particle clearance (GO:0010989)|negative regulation of receptor recycling (GO:0001920)|neurogenesis (GO:0022008)|neuron differentiation (GO:0030182)|phospholipid metabolic process (GO:0006644)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of receptor internalization (GO:0002092)|protein autoprocessing (GO:0016540)|proteolysis (GO:0006508)|regulation of low-density lipoprotein particle receptor catabolic process (GO:0032803)|regulation of neuron apoptotic process (GO:0043523)|regulation of receptor activity (GO:0010469)|triglyceride metabolic process (GO:0006641)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle (GO:0030134)|extracellular space (GO:0005615)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|late endosome (GO:0005770)|lysosome (GO:0005764)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)	apolipoprotein binding (GO:0034185)|apolipoprotein receptor binding (GO:0034190)|low-density lipoprotein particle binding (GO:0030169)|low-density lipoprotein particle receptor binding (GO:0050750)|poly(A) RNA binding (GO:0044822)|protein self-association (GO:0043621)|serine-type endopeptidase activity (GO:0004252)|sodium channel inhibitor activity (GO:0019871)|very-low-density lipoprotein particle binding (GO:0034189)|very-low-density lipoprotein particle receptor binding (GO:0070326)	p.A299A(1)		NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(1)|liver(2)|lung(4)|ovary(3)|prostate(3)|skin(1)|urinary_tract(1)	32						TCCTCAACGCCGCCTGCCAGC	0.692																																					Pancreas(137;1454 1827 5886 22361 42375)	ENST00000302118.5																			1	Substitution - coding silent(1)	p.A299A(1)	prostate(1)	NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(1)|liver(2)|lung(4)|ovary(3)|prostate(3)|skin(1)|urinary_tract(1)	32						c.(895-897)gcC>gcT		proprotein convertase subtilisin/kexin type 9							13	15	14					1																	55521763		2192	4288	6480	SO:0001819	synonymous_variant	255738				cellular response to insulin stimulus|cellular response to starvation|cholesterol homeostasis|cholesterol metabolic process|kidney development|liver development|low-density lipoprotein particle receptor catabolic process|lysosomal transport|negative regulation of catalytic activity|negative regulation of low-density lipoprotein particle clearance|negative regulation of receptor recycling|neuron differentiation|positive regulation of neuron apoptosis|positive regulation of receptor internalization|protein autoprocessing|regulation of receptor activity	extracellular space|late endosome|lysosome|perinuclear region of cytoplasm	apolipoprotein receptor binding|identical protein binding|low-density lipoprotein particle receptor binding|serine-type endopeptidase activity|very-low-density lipoprotein particle receptor binding	g.chr1:55521763C>T	AX207686	CCDS603.1	1p34.1-p32	2014-09-17	2003-05-13		ENSG00000169174	ENSG00000169174			20001	protein-coding gene	gene with protein product		607786	"hypercholesterolemia, autosomal dominant 3"	HCHOLA3		12552133, 12730697	Standard	NM_174936		Approved	NARC-1, FH3	uc001cyf.2	Q8NBP7	OTTHUMG00000008136	ENST00000302118.5:c.897C>T	1.37:g.55521763C>T						PCSK9_ENST00000490692.1_3'UTR|PCSK9_ENST00000543384.1_Silent_p.A99A	p.A299A	NM_174936.3	NP_777596.2	Q8NBP7	PCSK9_HUMAN			6	1187	+			299			Peptidase S8.		A8T640|C0JYY9|Q5PSM5|Q5SZQ2	Silent	SNP	ENST00000302118.5	37	c.897C>T	CCDS603.1																																																																																				0.692	PCSK9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022280.1	NM_174936		3	11	0	0	0	1	0	3	11					T	55521763	C	T	55521763	2	4	53	1	0	0	0	0	0	0	0	1	11606	639	23	2		2	PCSK9	1	55521763	Silent	SNP	C	TCGA-EJ-5504-01A-01D-1576-08	38225963	55521763	193728858	2	2751											
NTNG1	22854	broad.mit.edu	37	chr1	107867346	107867346	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaaatcaaagacaggttcgCgttttttgctggacctcgcc	9	12	10	10	3	1	2	1	1	0	1	3	3	1	3	2	2	1	3	2	2	2	4	rs386352339		TCGA-EJ-5504-01A-01D-1576-08	TCGA-EJ-5504-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bd30acf-01c3-4c96-a016-63e8dce66217	316ecb66-2802-4972-9bdc-f11fd7f67801	g.chr1:107867346C>T	ENST00000370068.1	+	3	1535	c.689C>T	c.(688-690)gCg>gTg	p.A230V	NTNG1_ENST00000370074.4_Missense_Mutation_p.A230V|NTNG1_ENST00000370065.1_Missense_Mutation_p.A230V|NTNG1_ENST00000370070.2_Missense_Mutation_p.A230V|NTNG1_ENST00000542803.1_Missense_Mutation_p.A230V|NTNG1_ENST00000370071.2_Missense_Mutation_p.A230V|NTNG1_ENST00000370073.2_Missense_Mutation_p.A230V|NTNG1_ENST00000370066.1_Missense_Mutation_p.A230V|NTNG1_ENST00000477948.1_3'UTR|NTNG1_ENST00000370067.1_Missense_Mutation_p.A230V|NTNG1_ENST00000370072.3_Missense_Mutation_p.A230V|NTNG1_ENST00000370061.3_Missense_Mutation_p.A230V			Q9Y2I2	NTNG1_HUMAN	netrin G1	230	Laminin N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00466}.				axonogenesis (GO:0007409)	anchored component of plasma membrane (GO:0046658)		p.A230V(4)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|soft_tissue(1)|urinary_tract(1)	37		all_epithelial(167;1.39e-05)|all_lung(203;0.000115)|Lung NSC(277;0.000238)|Breast(1374;0.243)		Lung(183;0.0946)|BRCA - Breast invasive adenocarcinoma(282;0.237)|Epithelial(280;0.245)		GACAGGTTCGCGTTTTTTGCT	0.428																																						ENST00000370067.1																			4	Substitution - Missense(4)	p.A230V(4)	large_intestine(2)|prostate(2)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|soft_tissue(1)|urinary_tract(1)	37						c.(688-690)gCg>gTg		netrin G1							97	93	95					1																	107867346		2203	4300	6503	SO:0001583	missense	22854				axonogenesis	anchored to plasma membrane	protein binding	g.chr1:107867346C>T	AB023193	CCDS30785.1, CCDS44179.1, CCDS44180.1	1p13.2-p13.1	2013-03-01			ENSG00000162631	ENSG00000162631		"Netrins"	23319	protein-coding gene	gene with protein product	"netrin G1f", "Netrin-G1"	608818				10964959	Standard	NM_001113226		Approved	KIAA0976, Lmnt1	uc001dvh.4	Q9Y2I2	OTTHUMG00000010965	ENST00000370068.1:c.689C>T	1.37:g.107867346C>T	ENSP00000359085:p.Ala230Val					NTNG1_ENST00000370070.2_Missense_Mutation_p.A230V|NTNG1_ENST00000477948.1_3'UTR|NTNG1_ENST00000370071.2_Missense_Mutation_p.A230V|NTNG1_ENST00000370066.1_Missense_Mutation_p.A230V|NTNG1_ENST00000370073.2_Missense_Mutation_p.A230V|NTNG1_ENST00000370068.1_Missense_Mutation_p.A230V|NTNG1_ENST00000370072.3_Missense_Mutation_p.A230V|NTNG1_ENST00000370074.4_Missense_Mutation_p.A230V|NTNG1_ENST00000542803.1_Missense_Mutation_p.A230V|NTNG1_ENST00000370061.3_Missense_Mutation_p.A230V|NTNG1_ENST00000370065.1_Missense_Mutation_p.A230V	p.A230V			Q9Y2I2	NTNG1_HUMAN		Lung(183;0.0946)|BRCA - Breast invasive adenocarcinoma(282;0.237)|Epithelial(280;0.245)	3	1316	+		all_epithelial(167;1.39e-05)|all_lung(203;0.000115)|Lung NSC(277;0.000238)|Breast(1374;0.243)	230			Laminin N-terminal.		Q5VU86|Q5VU87|Q5VU89|Q5VU90|Q5VU91|Q7Z2Y3|Q8N633	Missense_Mutation	SNP	ENST00000370068.1	37	c.689C>T	CCDS44180.1	.	.	.	.	.	.	.	.	.	.	C	27.7	4.857515	0.91433	.	.	ENSG00000162631	ENST00000370076;ENST00000370073;ENST00000370071;ENST00000542803;ENST00000370061;ENST00000370072;ENST00000370070;ENST00000535584;ENST00000370074;ENST00000370068;ENST00000294649;ENST00000370067;ENST00000370066;ENST00000370065	T;T;T;T;T;T;T;T;T;T;T	0.75050	0.68;-0.48;0.63;0.02;-0.03;-0.66;-0.9;0.68;-0.66;-0.48;0.05	6.05	6.05	0.98169	Laminin, N-terminal (3);	0.000000	0.64402	D	0.000011	D	0.85801	0.5781	M	0.77616	2.38	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;0.999;1.0;1.0	D;D;P;D;P	0.91635	0.998;0.999;0.72;0.981;0.896	D	0.84823	0.0797	10	0.56958	D	0.05	.	20.6086	0.99469	0.0:1.0:0.0:0.0	.	230;230;230;230;230	B4DKF0;Q9Y2I2;Q9Y2I2-4;Q9Y2I2-2;Q9Y2I2-1	.;NTNG1_HUMAN;.;.;.	V	230	ENSP00000359090:A230V;ENSP00000359088:A230V;ENSP00000440561:A230V;ENSP00000359078:A230V;ENSP00000359089:A230V;ENSP00000359087:A230V;ENSP00000359091:A230V;ENSP00000359085:A230V;ENSP00000359084:A230V;ENSP00000359083:A230V;ENSP00000359082:A230V	ENSP00000294649:A230V	A	+	2	0	NTNG1	107668869	1.000000	0.71417	0.096000	0.21009	0.994000	0.84299	7.818000	0.86416	2.880000	0.98712	0.655000	0.94253	GCG		0.428	NTNG1-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000030340.1	NM_014917		12	89	0	0	0	1	0	12	89					T	107867346	C	T	107867346	3	4	53	1	0	0	0	0	1	0	0	0	10704	768	27	1	695	1	NTNG1	1	107867346	Missense_Mutation	SNP	C	TCGA-EJ-5504-01A-01D-1576-08	52345583	107867346	141383275	3	2752											
TRIM45	80263	broad.mit.edu	37	chr1	117661174	117661174	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ggagctcccacacagagtccCcatgcttgtggatgacattg	9	9	11	12	0	0	2	0	1	0	1	2	4	2	4	3	2	2	2	3	2	0	2			TCGA-EJ-5504-01A-01D-1576-08	TCGA-EJ-5504-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bd30acf-01c3-4c96-a016-63e8dce66217	316ecb66-2802-4972-9bdc-f11fd7f67801	g.chr1:117661174C>A	ENST00000256649.4	-	2	1230	c.704G>T	c.(703-705)gGg>gTg	p.G235V	TRIM45_ENST00000369461.3_Missense_Mutation_p.G178V|TRIM45_ENST00000369464.3_Missense_Mutation_p.G235V	NM_025188.3	NP_079464.2	Q9H8W5	TRI45_HUMAN	tripartite motif containing 45	235					bone development (GO:0060348)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)	p.G235V(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|prostate(1)	23	Lung SC(450;0.225)	all_cancers(81;0.000979)|all_lung(203;7.65e-05)|all_epithelial(167;0.000134)|Lung NSC(69;0.000389)		Lung(183;0.0537)|Colorectal(144;0.172)|LUSC - Lung squamous cell carcinoma(189;0.187)		CACAGAGTCCCCATGCTTGTG	0.577																																						ENST00000256649.4																			2	Substitution - Missense(2)	p.G235V(2)	prostate(2)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|prostate(1)	23						c.(703-705)gGg>gTg		tripartite motif containing 45							61	60	60					1																	117661174		2203	4300	6503	SO:0001583	missense	80263					cytoplasm|nucleus	zinc ion binding	g.chr1:117661174C>A		CCDS893.1, CCDS44200.1	1p13.1	2011-04-20	2011-01-25		ENSG00000134253	ENSG00000134253		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	19018	protein-coding gene	gene with protein product		609318	"tripartite motif-containing 45"			15351693	Standard	NM_025188		Approved	FLJ13181, RNF99	uc001egz.2	Q9H8W5	OTTHUMG00000012119	ENST00000256649.4:c.704G>T	1.37:g.117661174C>A	ENSP00000256649:p.Gly235Val					TRIM45_ENST00000369464.3_Missense_Mutation_p.G235V|TRIM45_ENST00000369461.3_Missense_Mutation_p.G178V	p.G235V	NM_025188.3	NP_079464.2	Q9H8W5	TRI45_HUMAN		Lung(183;0.0537)|Colorectal(144;0.172)|LUSC - Lung squamous cell carcinoma(189;0.187)	2	1230	-	Lung SC(450;0.225)	all_cancers(81;0.000979)|all_lung(203;7.65e-05)|all_epithelial(167;0.000134)|Lung NSC(69;0.000389)	235					Q53GN0|Q5T2K4|Q5T2K5|Q8IYV6	Missense_Mutation	SNP	ENST00000256649.4	37	c.704G>T	CCDS893.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.225435	0.79576	.	.	ENSG00000134253	ENST00000256649;ENST00000369464;ENST00000369461	D;D;D	0.83419	-1.72;-1.72;-1.72	5.32	5.32	0.75619	.	0.051432	0.85682	D	0.000000	D	0.88209	0.6375	M	0.62723	1.935	0.80722	D	1	D;D	0.76494	0.999;0.998	D;D	0.69307	0.963;0.919	D	0.88061	0.2794	10	0.59425	D	0.04	-33.0414	18.1728	0.89752	0.0:1.0:0.0:0.0	.	235;235	Q9H8W5-2;Q9H8W5	.;TRI45_HUMAN	V	235;235;178	ENSP00000256649:G235V;ENSP00000358476:G235V;ENSP00000358473:G178V	ENSP00000256649:G235V	G	-	2	0	TRIM45	117462697	1.000000	0.71417	1.000000	0.80357	0.611000	0.37282	7.053000	0.76641	2.771000	0.95319	0.655000	0.94253	GGG		0.577	TRIM45-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033503.1	NM_025188		4	148	1	0	0.150653	1	0.153859	4	148					A	117661174	C	A	117661174	3	1	53	1	0	0	0	0	1	0	0	0	16517	623	22	5	1058	5	TRIM45	1	117661174	Missense_Mutation	SNP	C	TCGA-EJ-5504-01A-01D-1576-08	9793828	117661174	131589447	4	2753											
RGS5	8490	broad.mit.edu	37	chr1	163122355	163122355	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaacctctttaggagcctcCgtttgaatgaattcttcata	10	14	6	11	1	3	2	1	2	2	0	4	3	4	3	4	1	2	1	4	1	5	6	rs150796534		TCGA-EJ-5504-01A-01D-1576-08	TCGA-EJ-5504-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bd30acf-01c3-4c96-a016-63e8dce66217	316ecb66-2802-4972-9bdc-f11fd7f67801	g.chr1:163122355C>T	ENST00000313961.5	-	4	646	c.369G>A	c.(367-369)acG>acA	p.T123T	RGS5_ENST00000527988.1_Silent_p.T15T|RGS5_ENST00000530507.1_Silent_p.T123T|RGS5_ENST00000367903.3_Silent_p.T143T|RGS5_ENST00000534288.1_5'Flank	NM_001254749.1|NM_003617.3	NP_001241678.1|NP_003608.1	O15539	RGS5_HUMAN	regulator of G-protein signaling 5	123	RGS. {ECO:0000255|PROSITE- ProRule:PRU00171}.				positive regulation of GTPase activity (GO:0043547)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|signal transduction (GO:0007165)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)	p.T123T(1)		autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(1)|lung(12)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	20			LUSC - Lung squamous cell carcinoma(543;0.187)			TAGGAGCCTCCGTTTGAATGA	0.473																																						ENST00000313961.5																			1	Substitution - coding silent(1)	p.T123T(1)	prostate(1)	autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(1)|lung(12)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	20						c.(367-369)acG>acA		regulator of G-protein signaling 5		C	,	0,4406		0,0,2203	229	238	235		45,369	-11	0	1	dbSNP_134	235	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	RGS5	NM_001195303.1,NM_003617.3	,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,	15/74,123/182	163122355	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	8490				negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity	g.chr1:163122355C>T	AF030108	CCDS1244.1, CCDS55652.1, CCDS58041.1	1q23.1	2008-02-05	2007-08-14		ENSG00000143248	ENSG00000143248		"Regulators of G-protein signaling"	10001	protein-coding gene	gene with protein product		603276	"regulator of G-protein signalling 5"			9747037	Standard	NM_003617		Approved		uc021pdt.1	O15539	OTTHUMG00000034441	ENST00000313961.5:c.369G>A	1.37:g.163122355C>T						RGS5_ENST00000527988.1_Silent_p.T15T|RGS5_ENST00000367903.3_Silent_p.T143T|RGS5_ENST00000530507.1_Silent_p.T123T	p.T123T	NM_001254749.1|NM_003617.3	NP_001241678.1|NP_003608.1	O15539	RGS5_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.187)		4	646	-			123			RGS.		E9PMP5|Q53XA9|Q599J0	Silent	SNP	ENST00000313961.5	37	c.369G>A	CCDS1244.1																																																																																				0.473	RGS5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000083264.1	NM_003617		126	555	0	0	0	1	0	126	555					T	163122355	C	T	163122355	2	4	53	1	0	0	0	0	0	0	0	1	13308	639	23	2		2	RGS5	1	163122355	Silent	SNP	C	TCGA-EJ-5504-01A-01D-1576-08	45461181	163122355	86128266	5	2754											
OR2M3	127062	broad.mit.edu	37	chr1	248367247	248367247	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcccctcatctacagcctccGcaacaaggaggtgaccagag	11	6	9	15	1	2	2	1	1	1	1	4	3	4	3	5	2	3	1	5	2	3	1	rs199968773		TCGA-EJ-5504-01A-01D-1576-08	TCGA-EJ-5504-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bd30acf-01c3-4c96-a016-63e8dce66217	316ecb66-2802-4972-9bdc-f11fd7f67801	g.chr1:248367247G>A	ENST00000456743.1	+	1	916	c.878G>A	c.(877-879)cGc>cAc	p.R293H		NM_001004689.1	NP_001004689.1	Q8NG83	OR2M3_HUMAN	olfactory receptor, family 2, subfamily M, member 3	293						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R293H(1)		endometrium(6)|large_intestine(4)|lung(33)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	50	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			TACAGCCTCCGCAACAAGGAG	0.473													g|||	1	0.000199681	8e-04	0	5008	,	,		17336	0		0	False		,,,				2504	0					ENST00000456743.1																			1	Substitution - Missense(1)	p.R293H(1)	prostate(1)	endometrium(6)|large_intestine(4)|lung(33)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	50						c.(877-879)cGc>cAc		olfactory receptor, family 2, subfamily M, member 3							110	104	106					1																	248367247		2203	4300	6503	SO:0001583	missense	127062				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248367247G>A		CCDS31107.1	1q44	2012-08-09		2004-03-10	ENSG00000228198	ENSG00000228198		"GPCR / Class A : Olfactory receptors"	8269	protein-coding gene	gene with protein product				OR2M6, OR2M3P			Standard	NM_001004689		Approved	OST003	uc010pzg.2	Q8NG83	OTTHUMG00000040459	ENST00000456743.1:c.878G>A	1.37:g.248367247G>A	ENSP00000389625:p.Arg293His						p.R293H	NM_001004689.1	NP_001004689.1	Q8NG83	OR2M3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0245)		1	916	+	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		293					B9EH06|Q6IEY0	Missense_Mutation	SNP	ENST00000456743.1	37	c.878G>A	CCDS31107.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	8.298	0.819291	0.16607	.	.	ENSG00000228198	ENST00000456743	T	0.41065	1.01	2.7	-0.474	0.12108	.	.	.	.	.	T	0.54822	0.1882	H	0.96996	3.92	0.09310	N	1	B	0.23058	0.079	B	0.23419	0.046	T	0.56780	-0.7922	9	0.72032	D	0.01	.	7.6554	0.28373	0.307:0.0:0.693:0.0	.	293	Q8NG83	OR2M3_HUMAN	H	293	ENSP00000389625:R293H	ENSP00000389625:R293H	R	+	2	0	OR2M3	246433870	0.000000	0.05858	0.001000	0.08648	0.003000	0.03518	0.688000	0.25422	-0.238000	0.09724	-1.264000	0.01445	CGC		0.473	OR2M3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097355.1	NM_001004689		19	156	0	0	0	1	0	19	156					A	248367247	G	A	248367247	3	1	53	1	0	0	0	0	1	0	0	0	11011	1087	38	1	880	1	OR2M3	1	248367247	Missense_Mutation	SNP	G	TCGA-EJ-5504-01A-01D-1576-08	85244892	248367247	883374	6	2755											
KYNU	8942	broad.mit.edu	37	chr2	143712411	143712411	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aagaaatagccctaatgaatGctttgactgtaaatttacat	16	13	6	6	0	0	3	0	2	0	1	0	3	0	3	1	0	3	2	1	0	8	6			TCGA-EJ-5504-01A-01D-1576-08	TCGA-EJ-5504-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bd30acf-01c3-4c96-a016-63e8dce66217	316ecb66-2802-4972-9bdc-f11fd7f67801	g.chr2:143712411G>T	ENST00000264170.4	+	5	664	c.406G>T	c.(406-408)Gct>Tct	p.A136S	KYNU_ENST00000409512.1_Missense_Mutation_p.A136S|KYNU_ENST00000375773.2_Missense_Mutation_p.A136S	NM_003937.2	NP_003928.1			kynureninase									p.A136S(2)		large_intestine(10)|liver(1)|lung(18)|prostate(3)|skin(4)	36				BRCA - Breast invasive adenocarcinoma(221;0.072)		CCTAATGAATGCTTTGACTGT	0.284																																						ENST00000264170.4																			2	Substitution - Missense(2)	p.A136S(2)	prostate(2)	large_intestine(10)|liver(1)|lung(18)|prostate(3)|skin(4)	36						c.(406-408)Gct>Tct		kynureninase	L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114)						104	112	109					2																	143712411		2203	4298	6501	SO:0001583	missense	8942				anthranilate metabolic process|NAD biosynthetic process|quinolinate biosynthetic process|response to interferon-gamma|response to vitamin B6	cytosol|mitochondrion|soluble fraction	kynureninase activity|protein homodimerization activity	g.chr2:143712411G>T	U57721	CCDS2183.1, CCDS33299.1	2q22.2	2010-11-23	2010-11-23		ENSG00000115919	ENSG00000115919	3.7.1.3		6469	protein-coding gene	gene with protein product	"L-kynurenine hydrolase"	605197	"kynureninase (L-kynurenine hydrolase)"			8706755, 9180257	Standard	NM_001199241		Approved		uc002tvl.3	Q16719	OTTHUMG00000131829	ENST00000264170.4:c.406G>T	2.37:g.143712411G>T	ENSP00000264170:p.Ala136Ser					KYNU_ENST00000409512.1_Missense_Mutation_p.A136S|KYNU_ENST00000375773.2_Missense_Mutation_p.A136S	p.A136S	NM_003937.2	NP_003928.1	Q16719	KYNU_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.072)	5	664	+			136						Missense_Mutation	SNP	ENST00000264170.4	37	c.406G>T	CCDS2183.1	.	.	.	.	.	.	.	.	.	.	G	11.09	1.536050	0.27475	.	.	ENSG00000115919	ENST00000264170;ENST00000375773;ENST00000409512	T;T;T	0.40756	1.02;1.02;1.02	5.72	4.84	0.62591	Pyridoxal phosphate-dependent transferase, major region, subdomain 2 (1);Pyridoxal phosphate-dependent transferase, major domain (1);Aminotransferase, class V/Cysteine desulfurase (1);	0.287493	0.38548	N	0.001660	T	0.13543	0.0328	N	0.00427	-1.505	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.10450	0.002;0.005	T	0.17077	-1.0381	10	0.09338	T	0.73	-6.1858	15.0444	0.71816	0.0683:0.0:0.9317:0.0	.	136;136	Q16719;Q9BVW3	KYNU_HUMAN;.	S	136	ENSP00000264170:A136S;ENSP00000364928:A136S;ENSP00000386731:A136S	ENSP00000264170:A136S	A	+	1	0	KYNU	143428881	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.189000	0.77747	1.555000	0.49500	0.650000	0.86243	GCT		0.284	KYNU-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254772.1	NM_001032998		4	144	1	0	1	1	1	4	144					T	143712411	G	T	143712411	3	4	53	1	0	0	0	0	1	0	0	0	8587	1319	46	5	420	5	KYNU	2	143712411	Missense_Mutation	SNP	G	TCGA-EJ-5504-01A-01D-1576-08		143712411	99486962	7	2756											
CHRNA1	1134	broad.mit.edu	37	chr2	175618298	175618298	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agcaggcaggggatgatgacGttgacgatgaagtagagggg	12	6	19	4	2	0	5	0	4	0	1	0	7	0	6	0	5	1	4	0	5	2	2	rs137852798		TCGA-EJ-5504-01A-01D-1576-08	TCGA-EJ-5504-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bd30acf-01c3-4c96-a016-63e8dce66217	316ecb66-2802-4972-9bdc-f11fd7f67801	g.chr2:175618298G>A	ENST00000261007.5	-	7	852	c.786C>T	c.(784-786)aaC>aaT	p.N262N	CHRNA1_ENST00000409323.1_Silent_p.N237N|CHRNA1_ENST00000348749.5_Silent_p.N237N|AC018890.6_ENST00000442996.1_RNA|CHRNA1_ENST00000409219.1_Silent_p.N237N|CHRNA1_ENST00000409542.1_Silent_p.N155N	NM_001039523.2	NP_001034612.1	P02708	ACHA_HUMAN	cholinergic receptor, nicotinic, alpha 1 (muscle)	262			N -> K (in SCCMS). {ECO:0000269|PubMed:8872460}.		cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|ion transmembrane transport (GO:0034220)|muscle cell cellular homeostasis (GO:0046716)|musculoskeletal movement (GO:0050881)|neuromuscular junction development (GO:0007528)|neuromuscular process (GO:0050905)|neuromuscular synaptic transmission (GO:0007274)|neuron cellular homeostasis (GO:0070050)|neuronal action potential (GO:0019228)|regulation of membrane potential (GO:0042391)|signal transduction (GO:0007165)|skeletal muscle contraction (GO:0003009)|skeletal muscle tissue growth (GO:0048630)|synaptic transmission (GO:0007268)|transport (GO:0006810)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|cell surface (GO:0009986)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|ion channel activity (GO:0005216)	p.N262N(1)		breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(15)|ovary(3)|prostate(3)|skin(4)	37					Galantamine(DB00674)	GGATGATGACGTTGACGATGA	0.577																																						ENST00000348749.5																			1	Substitution - coding silent(1)	p.N262N(1)	prostate(1)	breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(15)|ovary(3)|prostate(3)|skin(4)	37	GRCh37	CM960295	CHRNA1	M	rs137852798	c.(709-711)aaC>aaT		cholinergic receptor, nicotinic, alpha 1 (muscle)							236	211	220					2																	175618298		2203	4300	6503	SO:0001819	synonymous_variant	1134				muscle cell homeostasis|neuromuscular junction development|neuromuscular process|neuromuscular synaptic transmission|neuron homeostasis|regulation of action potential in neuron|skeletal muscle contraction|skeletal muscle tissue growth	cell junction|cell surface|neuromuscular junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity	g.chr2:175618298G>A	Y00762	CCDS2261.1, CCDS33331.1	2q31.1	2012-02-11	2006-02-01		ENSG00000138435	ENSG00000138435		"Cholinergic receptors", "Ligand-gated ion channels / Acetylcholine receptors, nicotinic"	1955	protein-coding gene	gene with protein product	"acetylcholine receptor, nicotinic, alpha 1 (muscle)"	100690	"cholinergic receptor, nicotinic, alpha polypeptide 1 (muscle)"	CHRNA			Standard	NM_001039523		Approved		uc002uje.2	P02708	OTTHUMG00000132357	ENST00000261007.5:c.786C>T	2.37:g.175618298G>A						AC018890.6_ENST00000442996.1_RNA|CHRNA1_ENST00000261007.5_Silent_p.N262N|CHRNA1_ENST00000409542.1_Silent_p.N155N|CHRNA1_ENST00000409323.1_Silent_p.N237N|CHRNA1_ENST00000409219.1_Silent_p.N237N	p.N237N	NM_000079.3	NP_000070.1	P02708	ACHA_HUMAN			6	788	-			262					B4DRV6|D3DPE8	Silent	SNP	ENST00000261007.5	37	c.711C>T	CCDS33331.1																																																																																				0.577	CHRNA1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000334116.1			7	203	0	0	0	1	0	7	203					A	175618298	G	A	175618298	2	1	53	1	0	0	0	0	0	0	0	1	3381	1136	40	1		1	CHRNA1	2	175618298	Silent	SNP	G	TCGA-EJ-5504-01A-01D-1576-08	31905887	175618298	67581075	8	2757											
USP37	57695	broad.mit.edu	37	chr2	219353102	219353102	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctacgaggaaggtcaatagaGaggtcattaaactgttctct	13	11	10	7	1	3	1	2	0	1	1	4	4	3	2	0	3	2	1	0	3	6	4			TCGA-EJ-5504-01A-01D-1576-08	TCGA-EJ-5504-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bd30acf-01c3-4c96-a016-63e8dce66217	316ecb66-2802-4972-9bdc-f11fd7f67801	g.chr2:219353102G>T	ENST00000258399.3	-	15	1927	c.1515C>A	c.(1513-1515)ctC>ctA	p.L505L	USP37_ENST00000454775.1_Silent_p.L505L|USP37_ENST00000418019.1_Silent_p.L505L|USP37_ENST00000475553.1_5'Flank|USP37_ENST00000415516.1_Silent_p.L433L	NM_020935.2	NP_065986	Q86T82	UBP37_HUMAN	ubiquitin specific peptidase 37	505	USP.				G1/S transition of mitotic cell cycle (GO:0000082)|mitotic nuclear division (GO:0007067)|protein deubiquitination (GO:0016579)|protein K11-linked deubiquitination (GO:0035871)|protein K48-linked deubiquitination (GO:0071108)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|protein kinase binding (GO:0019901)|ubiquitin-specific protease activity (GO:0004843)	p.L505L(2)		NS(2)|breast(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|skin(5)|stomach(1)	35		Renal(207;0.0915)		Epithelial(149;1.08e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.00375)|Lung(261;0.00487)		GGTCAATAGAGAGGTCATTAA	0.338																																						ENST00000258399.3																			2	Substitution - coding silent(2)	p.L505L(2)	prostate(2)	NS(2)|breast(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|skin(5)|stomach(1)	35						c.(1513-1515)ctC>ctA		ubiquitin specific peptidase 37							118	123	121					2																	219353102		2203	4299	6502	SO:0001819	synonymous_variant	57695				ubiquitin-dependent protein catabolic process	nucleus	cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr2:219353102G>T	AB046814	CCDS2418.1	2q35	2008-02-05	2005-08-08		ENSG00000135913	ENSG00000135913		"Ubiquitin-specific peptidases"	20063	protein-coding gene	gene with protein product			"ubiquitin specific protease 37"			12838346	Standard	NM_020935		Approved	KIAA1594	uc010fvs.1	Q86T82	OTTHUMG00000133113	ENST00000258399.3:c.1515C>A	2.37:g.219353102G>T						USP37_ENST00000415516.1_Silent_p.L433L|USP37_ENST00000418019.1_Silent_p.L505L|USP37_ENST00000454775.1_Silent_p.L505L	p.L505L	NM_020935.2	NP_065986.2	Q86T82	UBP37_HUMAN		Epithelial(149;1.08e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.00375)|Lung(261;0.00487)	15	1927	-		Renal(207;0.0915)	505					A2RUQ8|B7ZM38|B7ZM41|E9PHL3|Q2KHT2|Q53S10|Q7Z3A5|Q9HCH8	Silent	SNP	ENST00000258399.3	37	c.1515C>A	CCDS2418.1																																																																																				0.338	USP37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256779.3	NM_020935		22	151	1	0	4.4004e-07	1	4.69376e-07	22	151					T	219353102	G	T	219353102	2	4	53	1	0	0	0	0	0	0	0	1	17065	929	33	5		5	USP37	2	219353102	Silent	SNP	G	TCGA-EJ-5504-01A-01D-1576-08	43734804	219353102	23846271	9	2758											
SCN10A	6336	broad.mit.edu	37	chr3	38833623	38833623	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggcccgagtggcactaaaccGggaaatggtcctccctttgt	8	9	12	12	2	0	0	0	0	0	0	2	2	2	1	4	4	1	1	4	4	3	2			TCGA-EJ-5504-01A-01D-1576-08	TCGA-EJ-5504-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bd30acf-01c3-4c96-a016-63e8dce66217	316ecb66-2802-4972-9bdc-f11fd7f67801	g.chr3:38833623G>A	ENST00000449082.2	-	2	306	c.307C>T	c.(307-309)Cgg>Tgg	p.R103W		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	103					AV node cell to bundle of His cell communication (GO:0086067)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of cardiac muscle contraction (GO:0055117)|regulation of heart rate (GO:0002027)|regulation of ion transmembrane transport (GO:0034765)|sensory perception (GO:0007600)|sensory perception of pain (GO:0019233)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	C-fiber (GO:0044299)|extracellular vesicular exosome (GO:0070062)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)	p.R103W(1)		NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cinchocaine(DB00527)|Cocaine(DB00907)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Lacosamide(DB06218)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Orphenadrine(DB01173)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)|Valproic Acid(DB00313)	GCACTAAACCGGGAAATGGTC	0.448																																						ENST00000449082.2																			1	Substitution - Missense(1)	p.R103W(1)	prostate(1)	NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150						c.(307-309)Cgg>Tgg		sodium channel, voltage-gated, type X, alpha subunit	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)						187	184	185					3																	38833623		2203	4300	6503	SO:0001583	missense	6336				sensory perception	voltage-gated sodium channel complex		g.chr3:38833623G>A	AF117907	CCDS33736.1	3p22.2	2012-02-26	2007-01-23		ENSG00000185313	ENSG00000185313		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10582	protein-coding gene	gene with protein product		604427	"sodium channel, voltage-gated, type X, alpha polypeptide"			9839820, 10198179, 16382098	Standard	NM_006514		Approved	Nav1.8, hPN3, SNS, PN3	uc003ciq.3	Q9Y5Y9	OTTHUMG00000048245	ENST00000449082.2:c.307C>T	3.37:g.38833623G>A	ENSP00000390600:p.Arg103Trp						p.R103W	NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	2	306	-			103					A6NDQ1	Missense_Mutation	SNP	ENST00000449082.2	37	c.307C>T	CCDS33736.1	.	.	.	.	.	.	.	.	.	.	G	18.53	3.643970	0.67244	.	.	ENSG00000185313	ENST00000449082	D	0.97232	-4.3	4.53	3.62	0.41486	.	0.000000	0.85682	D	0.000000	D	0.98626	0.9540	M	0.92784	3.345	0.38396	D	0.945538	D	0.89917	1.0	D	0.91635	0.999	D	0.99931	1.1319	10	0.87932	D	0	.	13.1453	0.59459	0.0:0.0:0.7024:0.2976	.	103	Q9Y5Y9	SCNAA_HUMAN	W	103	ENSP00000390600:R103W	ENSP00000390600:R103W	R	-	1	2	SCN10A	38808627	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.030000	0.30153	1.205000	0.43262	0.650000	0.86243	CGG		0.448	SCN10A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109745.3	NM_006514		5	291	0	0	0	1	0	5	291					A	38833623	G	A	38833623	3	1	53	1	0	0	0	0	1	0	0	0	13912	1115	39	2	5667	2	SCN10A	3	38833623	Missense_Mutation	SNP	G	TCGA-EJ-5504-01A-01D-1576-08		38833623	159188807	10	2759											
CXCR6	10663	broad.mit.edu	37	chr3	45988802	45988802	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcatggtgacagaggccatcGcatacctgagggcctgcctt	8	9	12	12	1	1	3	1	2	0	1	2	3	1	3	4	3	2	1	4	3	1	2			TCGA-EJ-5504-01A-01D-1576-08	TCGA-EJ-5504-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bd30acf-01c3-4c96-a016-63e8dce66217	316ecb66-2802-4972-9bdc-f11fd7f67801	g.chr3:45988802G>A	ENST00000458629.1	+	1	2292	c.829G>A	c.(829-831)Gca>Aca	p.A277T	FYCO1_ENST00000296137.2_Intron|CXCR6_ENST00000438735.1_Missense_Mutation_p.A277T|CXCR6_ENST00000457814.1_Missense_Mutation_p.A277T|FYCO1_ENST00000438446.1_Intron|CXCR6_ENST00000304552.4_Missense_Mutation_p.A277T|FYCO1_ENST00000535325.1_Intron			O00574	CXCR6_HUMAN	chemokine (C-X-C motif) receptor 6	277					chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|viral genome replication (GO:0019079)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	C-X-C chemokine receptor activity (GO:0016494)|coreceptor activity (GO:0015026)|G-protein coupled receptor activity (GO:0004930)	p.A277T(1)		central_nervous_system(1)|endometrium(1)|kidney(3)|lung(1)|prostate(1)|skin(1)	8				BRCA - Breast invasive adenocarcinoma(193;0.00113)|KIRC - Kidney renal clear cell carcinoma(197;0.0172)|Kidney(197;0.0203)		AGAGGCCATCGCATACCTGAG	0.507																																					Esophageal Squamous(63;1005 1117 15521 45762 47089)	ENST00000458629.1																			1	Substitution - Missense(1)	p.A277T(1)	prostate(1)	central_nervous_system(1)|endometrium(1)|kidney(3)|lung(1)|prostate(1)|skin(1)	8						c.(829-831)Gca>Aca		chemokine (C-X-C motif) receptor 6							116	97	103					3																	45988802		2203	4300	6503	SO:0001583	missense	10663				viral genome replication	integral to plasma membrane	coreceptor activity	g.chr3:45988802G>A	AF007545	CCDS2735.1	3p21	2012-08-08			ENSG00000172215	ENSG00000172215		"CD molecules", "GPCR / Class A : Chemokine receptors : C-X-C motif"	16647	protein-coding gene	gene with protein product		605163				9166430, 9230441	Standard	XM_005264809		Approved	TYMSTR, STRL33, BONZO, CD186	uc003cpc.1	O00574	OTTHUMG00000133448	ENST00000458629.1:c.829G>A	3.37:g.45988802G>A	ENSP00000395704:p.Ala277Thr					FYCO1_ENST00000535325.1_Intron|CXCR6_ENST00000457814.1_Missense_Mutation_p.A277T|CXCR6_ENST00000438735.1_Missense_Mutation_p.A277T|FYCO1_ENST00000438446.1_Intron|CXCR6_ENST00000304552.4_Missense_Mutation_p.A277T|FYCO1_ENST00000296137.2_Intron	p.A277T			O00574	CXCR6_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00113)|KIRC - Kidney renal clear cell carcinoma(197;0.0172)|Kidney(197;0.0203)	1	2292	+			277					O00575|Q9HCA5	Missense_Mutation	SNP	ENST00000458629.1	37	c.829G>A	CCDS2735.1	.	.	.	.	.	.	.	.	.	.	G	19.65	3.868166	0.72065	.	.	ENSG00000172215	ENST00000438735;ENST00000304552;ENST00000458629;ENST00000457814	T;T;T;T	0.39229	1.09;1.09;1.09;1.09	5.96	5.07	0.68467	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.67439	0.2893	M	0.87827	2.91	0.53005	D	0.999969	D	0.76494	0.999	D	0.65010	0.931	T	0.74372	-0.3687	10	0.62326	D	0.03	.	15.2957	0.73906	0.0:0.0:0.8586:0.1414	.	277	O00574	CXCR6_HUMAN	T	277	ENSP00000396218:A277T;ENSP00000304414:A277T;ENSP00000395704:A277T;ENSP00000396886:A277T	ENSP00000304414:A277T	A	+	1	0	CXCR6	45963806	1.000000	0.71417	0.838000	0.33150	0.265000	0.26407	5.464000	0.66719	1.489000	0.48450	0.655000	0.94253	GCA		0.507	CXCR6-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344395.1			15	122	0	0	0	1	0	15	122					A	45988802	G	A	45988802	3	1	53	1	0	0	0	0	1	0	0	0	4095	1087	38	1	831	1	CXCR6	3	45988802	Missense_Mutation	SNP	G	TCGA-EJ-5504-01A-01D-1576-08	7155179	45988802	152033628	11	2760											
DZIP3	9666	broad.mit.edu	37	chr3	108347996	108347996	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tttgacatagatcctacagaAgatgaagatttacctacaac	16	11	6	8	0	0	6	0	2	0	4	1	6	1	6	2	0	4	0	2	0	7	6			TCGA-EJ-5504-01A-01D-1576-08	TCGA-EJ-5504-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bd30acf-01c3-4c96-a016-63e8dce66217	316ecb66-2802-4972-9bdc-f11fd7f67801	g.chr3:108347996A>G	ENST00000361582.3	+	8	899	c.669A>G	c.(667-669)gaA>gaG	p.E223E	DZIP3_ENST00000463306.1_Silent_p.E223E	NM_014648.3	NP_055463.1	Q86Y13	DZIP3_HUMAN	DAZ interacting zinc finger protein 3	223					protein polyubiquitination (GO:0000209)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|phosphatase binding (GO:0019902)|poly(A) RNA binding (GO:0044822)|polyubiquitin binding (GO:0031593)|RNA binding (GO:0003723)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.E223E(1)		breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(21)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	45						ATCCTACAGAAGATGAAGATT	0.289																																						ENST00000361582.3																			1	Substitution - coding silent(1)	p.E223E(1)	prostate(1)	breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(21)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	45						c.(667-669)gaA>gaG		DAZ interacting zinc finger protein 3							86	91	89					3																	108347996		2203	4300	6503	SO:0001819	synonymous_variant	9666				protein polyubiquitination	cytoplasm	polyubiquitin binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr3:108347996A>G	AF279370	CCDS2952.1	3q13.13	2013-05-22	2013-05-22		ENSG00000198919	ENSG00000198919		"RING-type (C3HC4) zinc fingers", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	30938	protein-coding gene	gene with protein product	"human RNA-binding ubiquitin ligase of 138 kDa", "protein phosphatase 1, regulatory subunit 66"	608672	"DAZ interacting protein 3, zinc finger"			9734811, 12538761	Standard	NM_014648		Approved	hRUL138, PPP1R66	uc003dxd.3	Q86Y13	OTTHUMG00000159232	ENST00000361582.3:c.669A>G	3.37:g.108347996A>G						DZIP3_ENST00000463306.1_Silent_p.E223E	p.E223E	NM_014648.3	NP_055463.1	Q86Y13	DZIP3_HUMAN			8	899	+			223					B3KN01|O75162|Q6P3R9|Q6PH82|Q86Y14|Q86Y15|Q86Y16|Q8IWI0|Q96RS9	Silent	SNP	ENST00000361582.3	37	c.669A>G	CCDS2952.1																																																																																				0.289	DZIP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353968.1	NM_014648		15	168	0	0	0	1	0	15	168					G	108347996	A	G	108347996	2	3	53	1	0	0	0	0	0	0	0	1	4865	69	3	4		4	DZIP3	3	108347996	Silent	SNP	A	TCGA-EJ-5504-01A-01D-1576-08	62359194	108347996	89674434	12	2761											
LRRC15	131578	broad.mit.edu	37	chr3	194081448	194081448	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacctgcagcttgttgttggCgaggctgagatagcgcagcg	8	9	15	9	3	0	1	0	1	0	1	0	3	0	1	1	2	5	6	1	2	2	4	rs372164095		TCGA-EJ-5504-01A-01D-1576-08	TCGA-EJ-5504-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bd30acf-01c3-4c96-a016-63e8dce66217	316ecb66-2802-4972-9bdc-f11fd7f67801	g.chr3:194081448C>T	ENST00000347624.3	-	2	410	c.325G>A	c.(325-327)Gcc>Acc	p.A109T	LRRC15_ENST00000439944.2_Missense_Mutation_p.A115T|LRRC15_ENST00000428839.1_Missense_Mutation_p.A115T	NM_130830.4	NP_570843.2	Q8TF66	LRC15_HUMAN	leucine rich repeat containing 15	109					negative regulation of establishment of protein localization to plasma membrane (GO:0090005)|positive regulation of cell migration (GO:0030335)|receptor-mediated virion attachment to host cell (GO:0046813)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	collagen binding (GO:0005518)|fibronectin binding (GO:0001968)|laminin binding (GO:0043236)	p.A109T(3)		biliary_tract(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(20)|ovary(4)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	all_cancers(143;5.31e-09)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.94e-05)		TTGTTGTTGGCGAGGCTGAGA	0.597																																						ENST00000347624.3																			3	Substitution - Missense(3)	p.A109T(3)	prostate(2)|large_intestine(1)	biliary_tract(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(20)|ovary(4)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						c.(325-327)Gcc>Acc		leucine rich repeat containing 15		A	THR/ALA,THR/ALA	0,4406		0,0,2203	58	59	59		343,325	2.8	1	3		59	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	LRRC15	NM_001135057.2,NM_130830.4	58,58	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign,benign	115/588,109/582	194081448	1,13005	2203	4300	6503	SO:0001583	missense	131578					integral to membrane		g.chr3:194081448C>T	AB071037	CCDS3306.1, CCDS46984.1	3q29	2008-02-05			ENSG00000172061	ENSG00000172061			20818	protein-coding gene	gene with protein product						12923058	Standard	NM_001135057		Approved	LIB	uc003ftu.3	Q8TF66	OTTHUMG00000156048	ENST00000347624.3:c.325G>A	3.37:g.194081448C>T	ENSP00000306276:p.Ala109Thr					LRRC15_ENST00000439944.2_Missense_Mutation_p.A115T|LRRC15_ENST00000428839.1_Missense_Mutation_p.A115T	p.A109T	NM_130830.4	NP_570843.2	Q8TF66	LRC15_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.94e-05)	2	410	-	all_cancers(143;5.31e-09)|Ovarian(172;0.0634)		109					Q495Q6|Q7RTN7	Missense_Mutation	SNP	ENST00000347624.3	37	c.325G>A	CCDS3306.1	.	.	.	.	.	.	.	.	.	.	c	13.49	2.254229	0.39896	0.0	1.16E-4	ENSG00000172061	ENST00000347624;ENST00000439944;ENST00000428839	T;T;T	0.56941	0.43;0.43;0.43	4.8	2.85	0.33270	.	0.170771	0.39985	N	0.001215	T	0.30634	0.0771	N	0.20530	0.585	0.29852	N	0.828327	P;P	0.40794	0.653;0.729	B;B	0.32090	0.14;0.123	T	0.20140	-1.0284	10	0.15952	T	0.53	.	13.8657	0.63588	0.2772:0.7228:0.0:0.0	.	109;115	Q8TF66;Q8TF66-2	LRC15_HUMAN;.	T	109;115;115	ENSP00000306276:A109T;ENSP00000389128:A115T;ENSP00000413707:A115T	ENSP00000306276:A109T	A	-	1	0	LRRC15	195562743	0.177000	0.23109	0.974000	0.42286	0.868000	0.49771	0.761000	0.26489	1.353000	0.45828	-0.358000	0.07595	GCC		0.597	LRRC15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342858.2			30	105	0	0	0	1	0	30	105					T	194081448	C	T	194081448	3	4	53	1	0	0	0	0	1	0	0	0	8970	768	27	1	1424	1	LRRC15	3	194081448	Missense_Mutation	SNP	C	TCGA-EJ-5504-01A-01D-1576-08	85733452	194081448	3940982	13	2762											
WHSC1	7468	broad.mit.edu	37	chr4	1980396	1980396	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtccttggcatcattgtgaCgtgtgtggcaaaccttcgac	7	13	11	10	2	1	1	1	1	0	0	3	2	2	1	2	2	1	2	2	2	1	3			TCGA-EJ-5504-01A-01D-1576-08	TCGA-EJ-5504-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bd30acf-01c3-4c96-a016-63e8dce66217	316ecb66-2802-4972-9bdc-f11fd7f67801	g.chr4:1980396C>T	ENST00000382895.3	+	24	4289	c.3858C>T	c.(3856-3858)gaC>gaT	p.D1286D	WHSC1_ENST00000382888.3_Silent_p.D634D|WHSC1_ENST00000482415.2_3'UTR|WHSC1_ENST00000382891.5_Silent_p.D1286D|WHSC1_ENST00000382892.2_Silent_p.D1286D|WHSC1_ENST00000508803.1_Silent_p.D1286D	NM_133330.2	NP_579877.1	O96028	NSD2_HUMAN	Wolf-Hirschhorn syndrome candidate 1	1286					anatomical structure morphogenesis (GO:0009653)|atrial septum primum morphogenesis (GO:0003289)|atrial septum secundum morphogenesis (GO:0003290)|bone development (GO:0060348)|membranous septum morphogenesis (GO:0003149)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)	p.D1286D(2)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	48		all_epithelial(65;1.34e-05)	OV - Ovarian serous cystadenocarcinoma(23;0.00606)	STAD - Stomach adenocarcinoma(129;0.232)		ATCATTGTGACGTGTGTGGCA	0.522			T	IGH@	MM																																	ENST00000382895.3				Dom	yes		4	4p16.3	7468	T	Wolf-Hirschhorn syndrome candidate 1(MMSET)			L	IGH@		MM		2	Substitution - coding silent(2)	p.D1286D(2)	prostate(2)	breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	48						c.(3856-3858)gaC>gaT		Wolf-Hirschhorn syndrome candidate 1							110	106	107					4																	1980396		2203	4300	6503	SO:0001819	synonymous_variant	7468				anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|cytoplasm|nuclear membrane|nucleolus	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding	g.chr4:1980396C>T	AF083386	CCDS3356.1, CCDS33940.1, CCDS46999.1	4p16.3	2013-05-20			ENSG00000109685	ENSG00000109685		"Zinc fingers, PHD-type"	12766	protein-coding gene	gene with protein product		602952				9618163, 9787135	Standard	NM_133334		Approved	MMSET, NSD2	uc003gdz.4	O96028	OTTHUMG00000121147	ENST00000382895.3:c.3858C>T	4.37:g.1980396C>T						WHSC1_ENST00000482415.2_3'UTR|WHSC1_ENST00000382888.3_Silent_p.D634D|WHSC1_ENST00000382892.2_Silent_p.D1286D|WHSC1_ENST00000382891.5_Silent_p.D1286D|WHSC1_ENST00000508803.1_Silent_p.D1286D	p.D1286D	NM_133330.2	NP_579877.1	O96028	NSD2_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.00606)	STAD - Stomach adenocarcinoma(129;0.232)	24	4289	+		all_epithelial(65;1.34e-05)	1286					A2A2T2|A2A2T3|A2A2T4|A7MCZ1|D3DVQ2|O96031|Q4VBY8|Q672J1|Q6IS00|Q86V01|Q9BZB4|Q9UI92|Q9UPR2	Silent	SNP	ENST00000382895.3	37	c.3858C>T	CCDS33940.1																																																																																				0.522	WHSC1-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366269.2	NM_133330		25	100	0	0	0	1	0	25	100					T	1980396	C	T	1980396	2	4	53	1	0	0	0	0	0	0	0	1	17359	535	19	1		1	WHSC1	4	1980396	Silent	SNP	C	TCGA-EJ-5504-01A-01D-1576-08		1980396	189173880	14	2763											
PACRGL	133015	broad.mit.edu	37	chr4	20714532	20714532	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acctagactgattcctgtgcTaaaggcagctctggtatgtc	9	12	10	10	0	1	2	0	1	1	1	3	2	2	2	2	2	2	4	2	2	4	4			TCGA-EJ-5504-01A-01D-1576-08	TCGA-EJ-5504-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bd30acf-01c3-4c96-a016-63e8dce66217	316ecb66-2802-4972-9bdc-f11fd7f67801	g.chr4:20714532T>A	ENST00000503585.1	+	6	879	c.488T>A	c.(487-489)cTa>cAa	p.L163Q	PACRGL_ENST00000444671.2_Intron|PACRGL_ENST00000295290.8_Missense_Mutation_p.L163Q|PACRGL_ENST00000507634.1_Missense_Mutation_p.L163Q|PACRGL_ENST00000513459.1_Missense_Mutation_p.L110Q|PACRGL_ENST00000538990.1_Intron|PACRGL_ENST00000502374.1_Missense_Mutation_p.L110Q|PACRGL_ENST00000360916.5_Missense_Mutation_p.L163Q|PACRGL_ENST00000502938.1_Intron	NM_001258345.1	NP_001245274.1	Q8N7B6	PACRL_HUMAN	PARK2 co-regulated-like	163								p.L163Q(1)		endometrium(2)|lung(7)|prostate(1)	10						ATTCCTGTGCTAAAGGCAGCT	0.333																																						ENST00000360916.5																			1	Substitution - Missense(1)	p.L163Q(1)	prostate(1)	endometrium(2)|lung(7)|prostate(1)	10						c.(487-489)cTa>cAa		PARK2 co-regulated-like							146	155	152					4																	20714532		2203	4299	6502	SO:0001583	missense	133015						binding	g.chr4:20714532T>A	AK098692	CCDS3427.1, CCDS47034.1, CCDS58895.1, CCDS58896.1	4p15.31	2008-10-02	2008-10-02	2008-10-02	ENSG00000163138	ENSG00000163138			28442	protein-coding gene	gene with protein product			"chromosome 4 open reading frame 28"	C4orf28		12477932	Standard	NM_145048		Approved	MGC29898	uc010iek.3	Q8N7B6	OTTHUMG00000128550	ENST00000503585.1:c.488T>A	4.37:g.20714532T>A	ENSP00000423881:p.Leu163Gln					PACRGL_ENST00000507634.1_Missense_Mutation_p.L163Q|PACRGL_ENST00000513459.1_Missense_Mutation_p.L110Q|PACRGL_ENST00000538990.1_Intron|PACRGL_ENST00000502374.1_Missense_Mutation_p.L110Q|PACRGL_ENST00000503585.1_Missense_Mutation_p.L163Q|PACRGL_ENST00000295290.8_Missense_Mutation_p.L163Q|PACRGL_ENST00000502938.1_Intron|PACRGL_ENST00000444671.2_Intron	p.L163Q	NM_145048.3	NP_659485.1	Q8N7B6	PACRL_HUMAN			6	879	+			163					B2RDB9|B4DFF8|B4DMN7|Q8TBA8	Missense_Mutation	SNP	ENST00000503585.1	37	c.488T>A	CCDS58895.1	.	.	.	.	.	.	.	.	.	.	T	19.85	3.903424	0.72754	.	.	ENSG00000163138	ENST00000510051;ENST00000503585;ENST00000360916;ENST00000295290;ENST00000513861;ENST00000502374;ENST00000513590;ENST00000507634;ENST00000513459;ENST00000511089	T;T;T;T;T;T;T;T;T;T	0.78003	2.68;-1.14;2.68;2.68;0.59;2.68;2.68;2.68;2.68;2.68	5.9	5.9	0.94986	Armadillo-like helical (1);Armadillo-type fold (1);	0.097541	0.42682	D	0.000665	D	0.88669	0.6499	M	0.80422	2.495	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;0.999;1.0	D;D;D;D;D	0.87578	0.996;0.998;0.997;0.946;0.994	D	0.90038	0.4140	10	0.87932	D	0	-6.1423	16.3275	0.82990	0.0:0.0:0.0:1.0	.	110;163;211;110;163	B4DFF8;Q8N7B6;D6R9N9;D6RGK2;Q8N7B6-2	.;PACRL_HUMAN;.;.;.	Q	211;163;163;163;110;110;163;163;110;110	ENSP00000423499:L211Q;ENSP00000423881:L163Q;ENSP00000354171:L163Q;ENSP00000295290:L163Q;ENSP00000422394:L110Q;ENSP00000425461:L110Q;ENSP00000422425:L163Q;ENSP00000425938:L163Q;ENSP00000426286:L110Q;ENSP00000421687:L110Q	ENSP00000295290:L163Q	L	+	2	0	PACRGL	20323630	0.996000	0.38824	0.950000	0.38849	0.783000	0.44284	6.134000	0.71689	2.266000	0.75297	0.528000	0.53228	CTA		0.333	PACRGL-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360321.2	NM_145048		57	362	0	0	0	1	0	57	362					A	20714532	T	A	20714532	3	1	53	1	0	0	0	0	1	0	0	0	11371	1522	53	5	506	5	PACRGL	4	20714532	Missense_Mutation	SNP	T	TCGA-EJ-5504-01A-01D-1576-08	18734136	20714532	170439744	15	2764											
LRBA	987	broad.mit.edu	37	chr4	151738393	151738393	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgagactgctgacttttttgCtgcaacaatgacacttctgt	9	15	8	9	0	1	3	0	3	1	1	1	4	1	3	0	0	4	3	0	0	2	4			TCGA-EJ-5504-01A-01D-1576-08	TCGA-EJ-5504-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bd30acf-01c3-4c96-a016-63e8dce66217	316ecb66-2802-4972-9bdc-f11fd7f67801	g.chr4:151738393C>T	ENST00000357115.3	-	31	5431	c.5188G>A	c.(5188-5190)Gca>Aca	p.A1730T	LRBA_ENST00000535741.1_Missense_Mutation_p.A1730T|LRBA_ENST00000510413.1_Missense_Mutation_p.A1730T|LRBA_ENST00000507224.1_Missense_Mutation_p.A1730T	NM_006726.4	NP_006717.2	P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and anchor containing	1730						cytoplasmic membrane-bounded vesicle (GO:0016023)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|membrane (GO:0016020)|plasma membrane (GO:0005886)		p.A1730T(1)		breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91	all_hematologic(180;0.151)					GACTTTTTTGCTGCAACAATG	0.363																																						ENST00000535741.1																			1	Substitution - Missense(1)	p.A1730T(1)	prostate(1)	breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						c.(5188-5190)Gca>Aca		LPS-responsive vesicle trafficking, beach and anchor containing							171	156	161					4																	151738393		2203	4300	6503	SO:0001583	missense	987					endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane	protein binding	g.chr4:151738393C>T	AF216648	CCDS3773.1, CCDS58928.1	4q13	2013-01-10		2001-10-05	ENSG00000198589	ENSG00000198589		"WD repeat domain containing"	1742	protein-coding gene	gene with protein product		606453		CDC4L		1505956, 11254716	Standard	NM_006726		Approved	BGL, LAB300, LBA	uc010ipj.3	P50851	OTTHUMG00000161443	ENST00000357115.3:c.5188G>A	4.37:g.151738393C>T	ENSP00000349629:p.Ala1730Thr					LRBA_ENST00000357115.3_Missense_Mutation_p.A1730T|LRBA_ENST00000510413.1_Missense_Mutation_p.A1730T|LRBA_ENST00000507224.1_Missense_Mutation_p.A1730T	p.A1730T			P50851	LRBA_HUMAN			31	5661	-	all_hematologic(180;0.151)		1730					Q4W5J4|Q4W5L6|Q8NFQ0|Q9H2U3|Q9H2U4	Missense_Mutation	SNP	ENST00000357115.3	37	c.5188G>A	CCDS3773.1	.	.	.	.	.	.	.	.	.	.	C	7.157	0.584924	0.13749	.	.	ENSG00000198589	ENST00000535741;ENST00000510413;ENST00000357115;ENST00000507224	T;T;T;T	0.53857	1.02;1.17;1.02;0.6	5.95	4.71	0.59529	.	1.182930	0.05959	N	0.640258	T	0.22360	0.0539	N	0.00729	-1.24	0.22096	N	0.999367	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.22417	-1.0217	10	0.11182	T	0.66	.	8.5963	0.33718	0.0:0.0706:0.2467:0.6828	.	1730;1730	P50851;P50851-2	LRBA_HUMAN;.	T	1730	ENSP00000446299:A1730T;ENSP00000421552:A1730T;ENSP00000349629:A1730T;ENSP00000422180:A1730T	ENSP00000349629:A1730T	A	-	1	0	LRBA	151957843	1.000000	0.71417	1.000000	0.80357	0.750000	0.42670	2.393000	0.44442	1.071000	0.40834	-0.300000	0.09419	GCA		0.363	LRBA-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000364939.1			16	108	0	0	0	1	0	16	108					T	151738393	C	T	151738393	3	4	53	1	0	0	0	0	1	0	0	0	8931	797	28	3	3515	3	LRBA	4	151738393	Missense_Mutation	SNP	C	TCGA-EJ-5504-01A-01D-1576-08	131023861	151738393	39415883	16	2765											
PRSS48	345062	broad.mit.edu	37	chr4	152212529	152212529	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	taacactatacacagagtagGcactgtagctgaagctgttg	13	10	10	8	0	0	2	0	1	0	1	0	2	0	2	0	1	4	6	0	1	6	6			TCGA-EJ-5504-01A-01D-1576-08	TCGA-EJ-5504-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bd30acf-01c3-4c96-a016-63e8dce66217	316ecb66-2802-4972-9bdc-f11fd7f67801	g.chr4:152212529G>A	ENST00000455694.2	+	5	913	c.911G>A	c.(910-912)gGc>gAc	p.G304D	SH3D19_ENST00000604030.1_Intron|PRSS48_ENST00000441586.2_Missense_Mutation_p.G161D	NM_183375.2	NP_899231.2	Q7RTY5	PRS48_HUMAN	protease, serine, 48	304						extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)	p.G304D(1)|p.G313D(1)		kidney(1)|large_intestine(2)|lung(2)|prostate(2)|urinary_tract(1)	8						CACAGAGTAGGCACTGTAGCT	0.502																																						ENST00000455694.2																			2	Substitution - Missense(2)	p.G304D(1)|p.G313D(1)	prostate(2)	kidney(1)|large_intestine(2)|lung(2)|prostate(2)|urinary_tract(1)	8						c.(910-912)gGc>gAc		protease, serine, 48							124	111	115					4																	152212529		1966	4163	6129	SO:0001583	missense	345062				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr4:152212529G>A	BN000134	CCDS47145.1	4q31.3	2010-05-07			ENSG00000189099	ENSG00000189099		"Serine peptidases / Serine peptidases"	24635	protein-coding gene	gene with protein product						12838346	Standard	NM_183375		Approved	ESSPL	uc011cif.2	Q7RTY5	OTTHUMG00000161673	ENST00000455694.2:c.911G>A	4.37:g.152212529G>A	ENSP00000401328:p.Gly304Asp					PRSS48_ENST00000441586.2_Missense_Mutation_p.G161D|SH3D19_ENST00000604030.1_Intron	p.G304D	NM_183375.2	NP_899231.2	Q7RTY5	PRS48_HUMAN			5	913	+			304					Q08E82|Q0VAD4	Missense_Mutation	SNP	ENST00000455694.2	37	c.911G>A	CCDS47145.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.36|11.36	1.616648|1.616648	0.28801|0.28801	.|.	.|.	ENSG00000189099|ENSG00000189099	ENST00000530477|ENST00000455694;ENST00000441586	.|D;D	.|0.91011	.|-2.33;-2.77	3.7|3.7	-2.74|-2.74	0.05932|0.05932	.|.	.|.	.|.	.|.	.|.	T|T	0.75874|0.75874	0.3909|0.3909	N|N	0.08118|0.08118	0|0	0.09310|0.09310	N|N	1|1	.|B;B	.|0.14012	.|0.009;0.005	.|B;B	.|0.14578	.|0.011;0.005	T|T	0.61540|0.61540	-0.7042|-0.7042	5|9	.|0.51188	.|T	.|0.08	.|.	3.1671|3.1671	0.06539|0.06539	0.41:0.0:0.2804:0.3096|0.41:0.0:0.2804:0.3096	.|.	.|161;304	.|Q7RTY5-3;Q7RTY5	.|.;PRS48_HUMAN	T|D	283|304;161	.|ENSP00000401328:G304D;ENSP00000401420:G161D	.|ENSP00000401420:G161D	A|G	+|+	1|2	0|0	PRSS48|PRSS48	152431979|152431979	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.606000|0.606000	0.37113|0.37113	0.299000|0.299000	0.19138|0.19138	-0.699000|-0.699000	0.05077|0.05077	0.313000|0.313000	0.20887|0.20887	GCA|GGC		0.502	PRSS48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365685.3	NM_183375		5	141	0	0	0	1	0	5	141					A	152212529	G	A	152212529	3	1	53	1	0	0	0	0	1	0	0	0	12630	1203	42	3	929	3	PRSS48	4	152212529	Missense_Mutation	SNP	G	TCGA-EJ-5504-01A-01D-1576-08	474136	152212529	38941747	17	2766											
PLEKHG4B	153478	broad.mit.edu	37	chr5	173068	173068	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gatgagtttatcgtttgctgCgggaggaagaagtatctgag	10	12	15	4	2	1	3	0	2	1	1	2	6	1	5	0	2	2	4	0	2	4	4	rs201243812	byFrequency	TCGA-EJ-5504-01A-01D-1576-08	TCGA-EJ-5504-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bd30acf-01c3-4c96-a016-63e8dce66217	316ecb66-2802-4972-9bdc-f11fd7f67801	g.chr5:173068C>T	ENST00000283426.6	+	15	3089	c.3039C>T	c.(3037-3039)tgC>tgT	p.C1013C		NM_052909.3	NP_443141.3	Q96PX9	PKH4B_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 4B	1013	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.						Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.C204C(1)|p.C1013C(1)		endometrium(1)|large_intestine(2)|lung(2)|prostate(3)|skin(3)	11			all cancers(22;0.0253)|Lung(60;0.113)	Kidney(1;0.119)		TCGTTTGCTGCGGGAGGAAGA	0.512																																						ENST00000283426.6																			2	Substitution - coding silent(2)	p.C204C(1)|p.C1013C(1)	prostate(2)	endometrium(1)|large_intestine(2)|lung(2)|prostate(3)|skin(3)	11						c.(3037-3039)tgC>tgT		pleckstrin homology domain containing, family G (with RhoGef domain) member 4B		C		0,4406		0,0,2203	136	127	130		3039	0.1	0.1	5		130	6,8594	5.0+/-18.6	0,6,4294	no	coding-synonymous	PLEKHG4B	NM_052909.3		0,6,6497	TT,TC,CC		0.0698,0.0,0.0461		1013/1272	173068	6,13000	2203	4300	6503	SO:0001819	synonymous_variant	153478				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	g.chr5:173068C>T	BC008352	CCDS34124.1	5p15.33	2013-01-11			ENSG00000153404	ENSG00000153404		"Pleckstrin homology (PH) domain containing"	29399	protein-coding gene	gene with protein product						11572484	Standard	NM_052909		Approved	KIAA1909	uc003jak.2	Q96PX9	OTTHUMG00000161570	ENST00000283426.6:c.3039C>T	5.37:g.173068C>T							p.C1013C	NM_052909.3	NP_443141.3	Q96PX9	PKH4B_HUMAN	all cancers(22;0.0253)|Lung(60;0.113)	Kidney(1;0.119)	15	3089	+			1013			PH.			Silent	SNP	ENST00000283426.6	37	c.3039C>T	CCDS34124.1																																																																																				0.512	PLEKHG4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365359.1	NM_052909		24	148	0	0	0	1	0	24	148					T	173068	C	T	173068	2	4	53	1	0	0	0	0	0	0	0	1	12072	776	27	1		1	PLEKHG4B	5	173068	Silent	SNP	C	TCGA-EJ-5504-01A-01D-1576-08		173068	180742192	18	2767											
MCC	4163	broad.mit.edu	37	chr5	112418689	112418689	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgagtgggccaggtgttcaGccacactgctggatacctgc	7	9	14	11	0	1	1	1	1	0	0	1	2	1	2	3	3	4	2	3	3	1	2			TCGA-EJ-5504-01A-01D-1576-08	TCGA-EJ-5504-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bd30acf-01c3-4c96-a016-63e8dce66217	316ecb66-2802-4972-9bdc-f11fd7f67801	g.chr5:112418689G>C	ENST00000302475.4	-	9	1645	c.1082C>G	c.(1081-1083)gCt>gGt	p.A361G	MCC_ENST00000408903.3_Missense_Mutation_p.A551G|MCC_ENST00000515367.2_Missense_Mutation_p.A298G|MCC_ENST00000514701.3_5'UTR	NM_002387.2	NP_002378	P23508	CRCM_HUMAN	mutated in colorectal cancers	361					negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of epithelial cell proliferation (GO:0050680)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)	p.A361G(1)|p.A551G(1)		endometrium(4)|kidney(3)|large_intestine(15)|liver(2)|lung(8)|ovary(2)|pancreas(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42		all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198)		OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766)		CAGGTGTTCAGCCACACTGCT	0.418																																						ENST00000302475.4																			2	Substitution - Missense(2)	p.A361G(1)|p.A551G(1)	prostate(2)	endometrium(4)|kidney(3)|large_intestine(15)|liver(2)|lung(8)|ovary(2)|pancreas(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						c.(1081-1083)gCt>gGt		mutated in colorectal cancers							126	121	123					5																	112418689		2202	4300	6502	SO:0001583	missense	4163				negative regulation of canonical Wnt receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|Wnt receptor signaling pathway	cytoplasm|nucleus|plasma membrane	protein binding|receptor activity	g.chr5:112418689G>C		CCDS4111.1, CCDS43351.1	5q21-q22	2013-01-10			ENSG00000171444	ENSG00000171444		"EF-hand domain containing"	6935	protein-coding gene	gene with protein product		159350				1848370	Standard	NM_002387		Approved		uc003kql.4	P23508	OTTHUMG00000128804	ENST00000302475.4:c.1082C>G	5.37:g.112418689G>C	ENSP00000305617:p.Ala361Gly					MCC_ENST00000408903.3_Missense_Mutation_p.A551G|MCC_ENST00000514701.3_5'UTR|MCC_ENST00000515367.2_Missense_Mutation_p.A298G	p.A361G	NM_002387.2	NP_002378.1	P23508	CRCM_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766)	9	1645	-		all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198)	361					D3DT05|Q6ZR04	Missense_Mutation	SNP	ENST00000302475.4	37	c.1082C>G	CCDS4111.1	.	.	.	.	.	.	.	.	.	.	G	17.53	3.411895	0.62511	.	.	ENSG00000171444	ENST00000302475;ENST00000515367;ENST00000408903	T;T;T	0.44083	2.08;2.08;0.93	5.05	5.05	0.67936	.	0.000000	0.85682	D	0.000000	T	0.53722	0.1814	L	0.32530	0.975	0.58432	D	0.999999	D;P;D;D	0.61697	0.984;0.643;0.99;0.984	D;P;D;D	0.73380	0.935;0.745;0.98;0.935	T	0.45175	-0.9279	10	0.26408	T	0.33	-13.0772	18.7709	0.91892	0.0:0.0:1.0:0.0	.	361;323;551;361	B7Z6G0;B3KTX0;P23508-2;P23508	.;.;.;CRCM_HUMAN	G	361;298;551	ENSP00000305617:A361G;ENSP00000421615:A298G;ENSP00000386227:A551G	ENSP00000305617:A361G	A	-	2	0	MCC	112446588	1.000000	0.71417	0.946000	0.38457	0.277000	0.26821	7.786000	0.85741	2.497000	0.84241	0.563000	0.77884	GCT		0.418	MCC-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000250736.3	NM_001085377		26	102	0	0	0	1	0	26	102					C	112418689	G	C	112418689	3	2	53	1	0	0	0	0	1	0	0	0	9373	971	34	5	1443	5	MCC	5	112418689	Missense_Mutation	SNP	G	TCGA-EJ-5504-01A-01D-1576-08	112245621	112418689	68496571	19	2768											
PCDHA13	56136	broad.mit.edu	37	chr5	140262046	140262046	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agctggtgccgcgcctgttcCgggtggcgtccaaaagacac	7	7	14	13	4	0	1	0	0	0	1	2	1	2	1	4	3	2	2	4	3	2	1			TCGA-EJ-5504-01A-01D-1576-08	TCGA-EJ-5504-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bd30acf-01c3-4c96-a016-63e8dce66217	316ecb66-2802-4972-9bdc-f11fd7f67801	g.chr5:140262046C>T	ENST00000289272.2	+	1	193	c.193C>T	c.(193-195)Cgg>Tgg	p.R65W	PCDHA13_ENST00000409494.1_Missense_Mutation_p.R65W|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron	NM_018904.2|NM_031865.1	NP_061727.1|NP_114071.1	Q9Y5I0	PCDAD_HUMAN	protocadherin alpha 13	65	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.R65W(1)		NS(1)|biliary_tract(2)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(18)|liver(3)|lung(23)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCGCCTGTTCCGGGTGGCGTC	0.617																																					Melanoma(147;1739 1852 5500 27947 37288)	ENST00000289272.2																			1	Substitution - Missense(1)	p.R65W(1)	prostate(1)	NS(1)|biliary_tract(2)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(18)|liver(3)|lung(23)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	95						c.(193-195)Cgg>Tgg									45	54	51					5																	140262046		2201	4273	6474	SO:0001583	missense	0							g.chr5:140262046C>T	AF152478	CCDS4240.1	5q31	2010-11-26			ENSG00000239389	ENSG00000239389		"Cadherins / Protocadherins : Clustered"	8667	other	complex locus constituent	"KIAA0345-like 1", "ortholog of mouse CNR5"	606319		CNRS5		10380929, 10662547	Standard	NM_018904		Approved	CNR5, CRNR5, CNRN5, PCDH-ALPHA13		Q9Y5I0	OTTHUMG00000129614	ENST00000289272.2:c.193C>T	5.37:g.140262046C>T	ENSP00000289272:p.Arg65Trp					PCDHA6_ENST00000527624.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA13_ENST00000409494.1_Missense_Mutation_p.R65W|PCDHA1_ENST00000394633.3_Intron|PCDHA7_ENST00000525929.1_Intron	p.R65W	NM_018904.2|NM_031865.1	NP_061727.1|NP_114071.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	193	+								O75277	Missense_Mutation	SNP	ENST00000289272.2	37	c.193C>T	CCDS4240.1	.	.	.	.	.	.	.	.	.	.	C	17.52	3.410128	0.62399	.	.	ENSG00000239389	ENST00000409494;ENST00000289272	T;T	0.38887	1.11;1.11	5.54	4.65	0.58169	Cadherin, N-terminal (1);Cadherin (3);Cadherin-like (1);	.	.	.	.	T	0.77909	0.4201	H	0.99026	4.405	0.33047	D	0.532257	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.993;0.999;0.997	D	0.88784	0.3273	9	0.87932	D	0	.	12.9014	0.58126	0.3051:0.6949:0.0:0.0	.	65;65;65	Q9Y5I0;C9JA99;Q9Y5I0-2	PCDAD_HUMAN;.;.	W	65	ENSP00000386821:R65W;ENSP00000289272:R65W	ENSP00000289272:R65W	R	+	1	2	PCDHA13	140242230	0.987000	0.35691	1.000000	0.80357	0.784000	0.44337	3.891000	0.56227	1.286000	0.44565	0.556000	0.70494	CGG		0.617	PCDHA13-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335000.1	NM_018904		9	265	0	0	0	1	0	9	265					T	140262046	C	T	140262046	3	4	53	1	0	0	0	0	1	0	0	0	11523	643	23	2	195	2	PCDHA13	5	140262046	Missense_Mutation	SNP	C	TCGA-EJ-5504-01A-01D-1576-08	27843357	140262046	40653214	20	2769											
ZNF323	64288	broad.mit.edu	37	chr6	28294582	28294582	+	Silent	SNP	G	G	T																															aaatgttccatttcttttaaGatttcttgctttgatgccaa																										TCGA-EJ-5504-01A-01D-1576-08	TCGA-EJ-5504-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bd30acf-01c3-4c96-a016-63e8dce66217	316ecb66-2802-4972-9bdc-f11fd7f67801	g.chr6:28294582G>T	ENST00000414429.1	-	8	1485	c.582C>A	c.(580-582)atC>atA	p.I194I	ZSCAN31_ENST00000446474.1_Silent_p.I35I|ZSCAN31_ENST00000481934.1_5'Flank|ZSCAN31_ENST00000439158.1_Silent_p.I194I|ZSCAN31_ENST00000396838.2_Silent_p.I194I|ZSCAN31_ENST00000344279.6_Silent_p.I194I			Q96LW9	ZSC31_HUMAN	zinc finger and SCAN domain containing 31	194					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.I194I(1)									TTTCTTTTAAGATTTCTTGCT	0.363																																						ENST00000414429.1																			1	Substitution - coding silent(1)	p.I194I(1)	prostate(1)								c.(580-582)atC>atA		zinc finger and SCAN domain containing 31							62	67	65					6																	28294582		2203	4299	6502	SO:0001819	synonymous_variant	64288							g.chr6:28294582G>T		CCDS4649.1, CCDS59001.1	6p	2013-01-09	2013-01-08	2013-01-08	ENSG00000235109	ENSG00000235109		"-", "Zinc fingers, C2H2-type"	14097	protein-coding gene	gene with protein product		610794	"zinc finger protein 310 pseudogene", "zinc finger protein 323"	ZNF310P, ZNF323			Standard	NM_001135216		Approved		uc003nla.3	Q96LW9	OTTHUMG00000014518	ENST00000414429.1:c.582C>A	6.37:g.28294582G>T						ZSCAN31_ENST00000439158.1_Silent_p.I194I|ZSCAN31_ENST00000396838.2_Silent_p.I194I|ZSCAN31_ENST00000344279.6_Silent_p.I194I|ZSCAN31_ENST00000446474.1_Silent_p.I35I	p.I194I							8	1485	-								Q6P178|Q8WWS5	Silent	SNP	ENST00000414429.1	37	c.582C>A	CCDS4649.1																																																																																				0.363	ZSCAN31-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346804.1	NM_030899		16	173	1	0	1.15088e-07	1	1.2555e-07	16	173					T	28294582	G	T	28294582	2	4	53	1	0	0	0	0	0	0	0	1	17840	932	33	5		5	ZNF323	6	28294582	Silent	SNP	G	TCGA-EJ-5504-01A-01D-1576-08		28294582	142820485	21	2770	18	2									
ZNF323	64288	broad.mit.edu	37	chr6	28294583	28294583	+	Missense_Mutation	SNP	A	A	T																															aatgttccatttcttttaagAtttcttgctttgatgccaac																										TCGA-EJ-5504-01A-01D-1576-08	TCGA-EJ-5504-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bd30acf-01c3-4c96-a016-63e8dce66217	316ecb66-2802-4972-9bdc-f11fd7f67801	g.chr6:28294583A>T	ENST00000414429.1	-	8	1484	c.581T>A	c.(580-582)aTc>aAc	p.I194N	ZSCAN31_ENST00000446474.1_Missense_Mutation_p.I35N|ZSCAN31_ENST00000481934.1_5'Flank|ZSCAN31_ENST00000439158.1_Missense_Mutation_p.I194N|ZSCAN31_ENST00000396838.2_Missense_Mutation_p.I194N|ZSCAN31_ENST00000344279.6_Missense_Mutation_p.I194N			Q96LW9	ZSC31_HUMAN	zinc finger and SCAN domain containing 31	194					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.I194N(1)									TTCTTTTAAGATTTCTTGCTT	0.363																																						ENST00000414429.1																			1	Substitution - Missense(1)	p.I194N(1)	prostate(1)								c.(580-582)aTc>aAc		zinc finger and SCAN domain containing 31							62	67	65					6																	28294583		2203	4299	6502	SO:0001583	missense	64288							g.chr6:28294583A>T		CCDS4649.1, CCDS59001.1	6p	2013-01-09	2013-01-08	2013-01-08	ENSG00000235109	ENSG00000235109		"-", "Zinc fingers, C2H2-type"	14097	protein-coding gene	gene with protein product		610794	"zinc finger protein 310 pseudogene", "zinc finger protein 323"	ZNF310P, ZNF323			Standard	NM_001135216		Approved		uc003nla.3	Q96LW9	OTTHUMG00000014518	ENST00000414429.1:c.581T>A	6.37:g.28294583A>T	ENSP00000390076:p.Ile194Asn					ZSCAN31_ENST00000439158.1_Missense_Mutation_p.I194N|ZSCAN31_ENST00000396838.2_Missense_Mutation_p.I194N|ZSCAN31_ENST00000344279.6_Missense_Mutation_p.I194N|ZSCAN31_ENST00000446474.1_Missense_Mutation_p.I35N	p.I194N							8	1484	-								Q6P178|Q8WWS5	Missense_Mutation	SNP	ENST00000414429.1	37	c.581T>A	CCDS4649.1	.	.	.	.	.	.	.	.	.	.	A	9.138	1.013218	0.19277	.	.	ENSG00000235109	ENST00000396838;ENST00000439158;ENST00000414429;ENST00000446474;ENST00000344279;ENST00000435857;ENST00000414431;ENST00000453745;ENST00000426434	T;T;T;T;T;T;T;T;T	0.53857	3.35;3.35;3.35;3.31;3.35;3.38;5.94;4.05;0.6	4.62	-0.986	0.10252	.	.	.	.	.	T	0.17450	0.0419	L	0.42245	1.32	0.09310	N	1	B	0.26400	0.148	B	0.20955	0.032	T	0.17592	-1.0364	9	0.37606	T	0.19	.	3.9702	0.09449	0.4644:0.1923:0.3433:0.0	.	194	Q96LW9	ZN323_HUMAN	N	194;194;194;35;194;35;35;194;78	ENSP00000380050:I194N;ENSP00000413705:I194N;ENSP00000390076:I194N;ENSP00000402937:I35N;ENSP00000345339:I194N;ENSP00000391235:I35N;ENSP00000407529:I35N;ENSP00000389479:I194N;ENSP00000398680:I78N	ENSP00000345339:I194N	I	-	2	0	ZNF323	28402562	0.000000	0.05858	0.001000	0.08648	0.141000	0.21300	-0.407000	0.07178	-0.102000	0.12197	0.383000	0.25322	ATC		0.363	ZSCAN31-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346804.1	NM_030899		16	172	0	0	0	1	0	16	172					T	28294583	A	T	28294583	3	4	53	1	0	0	0	0	1	0	0	0	17840	333	12	5	643	5	ZNF323	6	28294583	Missense_Mutation	SNP	A	TCGA-EJ-5504-01A-01D-1576-08	1	28294583	142820484	22	2771	18	2									
PRPH2	5961	broad.mit.edu	37	chr6	42689807	42689807	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gcttccatctggcatacttgGctgggtccagggcgtcgtag	5	11	14	11	2	1	0	0	0	1	0	4	0	3	0	2	4	1	4	2	4	2	4			TCGA-EJ-5504-01A-01D-1576-08	TCGA-EJ-5504-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bd30acf-01c3-4c96-a016-63e8dce66217	316ecb66-2802-4972-9bdc-f11fd7f67801	g.chr6:42689807G>T	ENST00000230381.5	-	1	505	c.266C>A	c.(265-267)gCc>gAc	p.A89D		NM_000322.4	NP_000313.2	P23942	PRPH2_HUMAN	peripherin 2 (retinal degeneration, slow)	89					cell adhesion (GO:0007155)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)		p.A89D(1)		NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(1)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	18	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.00178)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.0904)			GGCATACTTGGCTGGGTCCAG	0.537																																						ENST00000230381.5																			1	Substitution - Missense(1)	p.A89D(1)	prostate(1)	NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(1)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	18						c.(265-267)gCc>gAc		peripherin 2 (retinal degeneration, slow)							72	63	66					6																	42689807		2203	4300	6503	SO:0001583	missense	5961				cell adhesion|visual perception	integral to membrane		g.chr6:42689807G>T		CCDS4871.1	6p21.1	2013-09-20	2006-11-23	2006-11-23	ENSG00000112619	ENSG00000112619		"Tetraspanins"	9942	protein-coding gene	gene with protein product	retinal peripherin	179605	"retinal degeneration, slow (retinitis pigmentosa 7)", "retinal degeneration, slow"	RP7, RDS		1749427	Standard	NM_000322		Approved	TSPAN22, rd2, CACD2	uc003osk.3	P23942	OTTHUMG00000014701	ENST00000230381.5:c.266C>A	6.37:g.42689807G>T	ENSP00000230381:p.Ala89Asp						p.A89D	NM_000322.4	NP_000313.2	P23942	PRPH2_HUMAN	Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.00178)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.0904)		1	505	-	Colorectal(47;0.196)		89					Q5TFH5|Q6DK65	Missense_Mutation	SNP	ENST00000230381.5	37	c.266C>A	CCDS4871.1	.	.	.	.	.	.	.	.	.	.	G	13.28	2.190746	0.38707	.	.	ENSG00000112619	ENST00000230381	T	0.03358	3.96	5.81	2.97	0.34412	.	0.450454	0.27539	N	0.018914	T	0.03783	0.0107	M	0.68593	2.085	0.36629	D	0.876193	B	0.23316	0.083	B	0.41946	0.371	T	0.08411	-1.0723	10	0.48119	T	0.1	.	8.7417	0.34560	0.0664:0.0:0.5485:0.3851	.	89	P23942	PRPH2_HUMAN	D	89	ENSP00000230381:A89D	ENSP00000230381:A89D	A	-	2	0	PRPH2	42797785	1.000000	0.71417	0.957000	0.39632	0.862000	0.49288	4.471000	0.60182	0.794000	0.33899	0.655000	0.94253	GCC		0.537	PRPH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040556.1	NM_000322		17	106	1	0	1.99824e-07	1	2.1554e-07	17	106					T	42689807	G	T	42689807	3	4	53	1	0	0	0	0	1	0	0	0	12577	1203	42	5	786	5	PRPH2	6	42689807	Missense_Mutation	SNP	G	TCGA-EJ-5504-01A-01D-1576-08	14395224	42689807	128425260	23	2772											
ICK	22858	broad.mit.edu	37	chr6	52897365	52897365	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggtaaagattttccttcaTgtactcgaagataaaataaa	16	13	6	6	1	1	2	1	0	0	2	3	3	2	2	1	1	1	2	1	1	8	7			TCGA-EJ-5504-01A-01D-1576-08	TCGA-EJ-5504-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bd30acf-01c3-4c96-a016-63e8dce66217	316ecb66-2802-4972-9bdc-f11fd7f67801	g.chr6:52897365T>G	ENST00000350082.5	-	4	590	c.244A>C	c.(244-246)Atg>Ctg	p.M82L	ICK_ENST00000356971.3_Missense_Mutation_p.M82L	NM_014920.3	NP_055735.1	Q9UPZ9	ICK_HUMAN	intestinal cell (MAK-like) kinase	82	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159, ECO:0000305}.				intracellular signal transduction (GO:0035556)|multicellular organismal development (GO:0007275)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)	p.M82L(1)		breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(3)|stomach(1)	31	Lung NSC(77;0.103)					TTTTCCTTCATGTACTCGAAG	0.323																																						ENST00000356971.3																			1	Substitution - Missense(1)	p.M82L(1)	prostate(1)	breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(3)|stomach(1)	31						c.(244-246)Atg>Ctg		intestinal cell (MAK-like) kinase							56	59	58					6																	52897365		2201	4293	6494	SO:0001583	missense	22858				intracellular protein kinase cascade|multicellular organismal development	cytosol|nucleus	ATP binding|cyclin-dependent protein kinase activity|magnesium ion binding	g.chr6:52897365T>G	AB023153	CCDS4949.1	6p12.3-p11.2	2008-02-05			ENSG00000112144	ENSG00000112144			21219	protein-coding gene	gene with protein product		612325				12103360	Standard	NM_014920		Approved	MRK, LCK2, KIAA0936, MGC46090	uc003pbi.2	Q9UPZ9	OTTHUMG00000014870	ENST00000350082.5:c.244A>C	6.37:g.52897365T>G	ENSP00000263043:p.Met82Leu					ICK_ENST00000350082.5_Missense_Mutation_p.M82L	p.M82L	NM_016513.4	NP_057597.2	Q9UPZ9	ICK_HUMAN			5	733	-	Lung NSC(77;0.103)		82			Protein kinase.		A7MD41|O75985|Q5THL2|Q8IYH8|Q9BX17|Q9NYX3	Missense_Mutation	SNP	ENST00000350082.5	37	c.244A>C	CCDS4949.1	.	.	.	.	.	.	.	.	.	.	T	19.99	3.928445	0.73327	.	.	ENSG00000112144	ENST00000350082;ENST00000356971	T;T	0.64260	-0.09;-0.09	5.56	5.56	0.83823	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.038677	0.85682	N	0.000000	T	0.34774	0.0909	N	0.12663	0.25	0.80722	D	1	B;B	0.27192	0.002;0.171	B;B	0.35688	0.015;0.208	T	0.33929	-0.9849	10	0.27082	T	0.32	-21.3714	16.0537	0.80779	0.0:0.0:0.0:1.0	.	82;82	Q9UPZ9-2;Q9UPZ9	.;ICK_HUMAN	L	82	ENSP00000263043:M82L;ENSP00000349458:M82L	ENSP00000263043:M82L	M	-	1	0	ICK	53005324	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.934000	0.87649	2.250000	0.74265	0.529000	0.55759	ATG		0.323	ICK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040952.1	NM_016513		16	68	0	0	0	1	0	16	68					G	52897365	T	G	52897365	3	3	53	1	0	0	0	0	1	0	0	0	7484	1464	51	5	1698	5	ICK	6	52897365	Missense_Mutation	SNP	T	TCGA-EJ-5504-01A-01D-1576-08	10207558	52897365	118217702	24	2773											
FILIP1	27145	broad.mit.edu	37	chr6	76024107	76024107	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	caatctactttcagaacattCcaattctttaactcgactct	12	15	2	12	1	4	1	1	0	3	1	6	2	5	1	1	0	3	0	1	0	5	6			TCGA-EJ-5504-01A-01D-1576-08	TCGA-EJ-5504-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bd30acf-01c3-4c96-a016-63e8dce66217	316ecb66-2802-4972-9bdc-f11fd7f67801	g.chr6:76024107C>G	ENST00000237172.7	-	5	1771	c.1441G>C	c.(1441-1443)Gaa>Caa	p.E481Q	FILIP1_ENST00000393004.2_Missense_Mutation_p.E481Q|FILIP1_ENST00000370020.1_Missense_Mutation_p.E382Q|FILIP1_ENST00000498523.1_5'UTR	NM_015687.2	NP_056502.1	Q7Z7B0	FLIP1_HUMAN	filamin A interacting protein 1	481								p.E481Q(1)		breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						TCAGAACATTCCAATTCTTTA	0.373																																						ENST00000393004.2																			1	Substitution - Missense(1)	p.E481Q(1)	prostate(1)	breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						c.(1441-1443)Gaa>Caa		filamin A interacting protein 1							109	113	111					6																	76024107		2203	4300	6503	SO:0001583	missense	27145							g.chr6:76024107C>G	AB033101	CCDS4984.1, CCDS75480.1	6q14.1	2008-02-05			ENSG00000118407	ENSG00000118407			21015	protein-coding gene	gene with protein product		607307				10574462	Standard	XM_005248713		Approved	FILIP, KIAA1275	uc003pia.3	Q7Z7B0	OTTHUMG00000015056	ENST00000237172.7:c.1441G>C	6.37:g.76024107C>G	ENSP00000237172:p.Glu481Gln					FILIP1_ENST00000370020.1_Missense_Mutation_p.E382Q|FILIP1_ENST00000498523.1_5'UTR|FILIP1_ENST00000237172.7_Missense_Mutation_p.E481Q	p.E481Q			Q7Z7B0	FLIP1_HUMAN			5	1662	-			481					B2RMU6|Q5VUL6|Q86TC3|Q8N8B9|Q96SK6|Q9NVI8|Q9ULE5	Missense_Mutation	SNP	ENST00000237172.7	37	c.1441G>C	CCDS4984.1	.	.	.	.	.	.	.	.	.	.	C	19.03	3.747357	0.69533	.	.	ENSG00000118407	ENST00000393004;ENST00000237172;ENST00000370020	T;T;T	0.26518	1.73;1.73;1.73	5.65	5.65	0.86999	.	0.160140	0.53938	D	0.000049	T	0.48714	0.1515	M	0.80616	2.505	0.58432	D	0.999996	D;D;D	0.71674	0.988;0.997;0.998	P;D;D	0.69142	0.676;0.917;0.962	T	0.47005	-0.9150	10	0.54805	T	0.06	-28.4445	20.0965	0.97849	0.0:1.0:0.0:0.0	.	481;481;481	A8K2G7;Q7Z7B0;Q7Z7B0-2	.;FLIP1_HUMAN;.	Q	481;481;382	ENSP00000376728:E481Q;ENSP00000237172:E481Q;ENSP00000359037:E382Q	ENSP00000237172:E481Q	E	-	1	0	FILIP1	76080827	1.000000	0.71417	0.975000	0.42487	0.975000	0.68041	7.776000	0.85560	2.824000	0.97209	0.655000	0.94253	GAA		0.373	FILIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041263.1	XM_029179		4	262	0	0	0	1	0	4	262					G	76024107	C	G	76024107	3	3	53	1	0	0	0	0	1	0	0	0	5894	864	30	5	2208	5	FILIP1	6	76024107	Missense_Mutation	SNP	C	TCGA-EJ-5504-01A-01D-1576-08	23126742	76024107	95090960	25	2774											
ENPP1	5167	broad.mit.edu	37	chr6	132203595	132203595	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aataacaccaaagtgagttaCgggttcctctccccaccacg	12	8	7	14	2	1	1	0	1	1	0	3	1	2	1	5	1	2	2	5	1	4	3	rs376128399		TCGA-EJ-5504-01A-01D-1576-08	TCGA-EJ-5504-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bd30acf-01c3-4c96-a016-63e8dce66217	316ecb66-2802-4972-9bdc-f11fd7f67801	g.chr6:132203595C>T	ENST00000360971.2	+	21	2231	c.2211C>T	c.(2209-2211)taC>taT	p.Y737Y		NM_006208.2	NP_006199.2	P22413	ENPP1_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 1	737	Nuclease.				3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|ATP catabolic process (GO:0006200)|biomineral tissue development (GO:0031214)|bone remodeling (GO:0046849)|cellular phosphate ion homeostasis (GO:0030643)|cellular response to insulin stimulus (GO:0032869)|generation of precursor metabolites and energy (GO:0006091)|immune response (GO:0006955)|inorganic diphosphate transport (GO:0030505)|negative regulation of cell growth (GO:0030308)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of glucose import (GO:0046325)|negative regulation of glycogen biosynthetic process (GO:0045719)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of ossification (GO:0030279)|negative regulation of protein autophosphorylation (GO:0031953)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleoside triphosphate catabolic process (GO:0009143)|phosphate-containing compound metabolic process (GO:0006796)|regulation of bone mineralization (GO:0030500)|riboflavin metabolic process (GO:0006771)|sequestering of triglyceride (GO:0030730)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	3'-phosphoadenosine 5'-phosphosulfate binding (GO:0050656)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|insulin receptor binding (GO:0005158)|NADH pyrophosphatase activity (GO:0035529)|nucleic acid binding (GO:0003676)|nucleoside-triphosphate diphosphatase activity (GO:0047429)|nucleotide diphosphatase activity (GO:0004551)|phosphodiesterase I activity (GO:0004528)|polysaccharide binding (GO:0030247)|protein homodimerization activity (GO:0042803)|scavenger receptor activity (GO:0005044)|zinc ion binding (GO:0008270)	p.Y685Y(2)		autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(22)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	46	Breast(56;0.0505)			GBM - Glioblastoma multiforme(226;0.0216)|OV - Ovarian serous cystadenocarcinoma(155;0.022)	Amifostine(DB01143)|Ribavirin(DB00811)	AAGTGAGTTACGGGTTCCTCT	0.383																																					Colon(104;336 1535 5856 11019 33782)	ENST00000360971.2																			2	Substitution - coding silent(2)	p.Y685Y(2)	prostate(1)|endometrium(1)	autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(22)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	46						c.(2209-2211)taC>taT		ectonucleotide pyrophosphatase/phosphodiesterase 1	Amifostine(DB01143)|Ribavirin(DB00811)	C		0,4406		0,0,2203	113	117	116		2211	1.1	1	6		116	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	ENPP1	NM_006208.2		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		737/926	132203595	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	5167				3'-phosphoadenosine 5'-phosphosulfate metabolic process|biomineral tissue development|cellular phosphate ion homeostasis|cellular response to insulin stimulus|generation of precursor metabolites and energy|immune response|inorganic diphosphate transport|negative regulation of cell growth|negative regulation of fat cell differentiation|negative regulation of glucose import|negative regulation of glycogen biosynthetic process|negative regulation of insulin receptor signaling pathway|negative regulation of protein autophosphorylation|nucleoside triphosphate catabolic process|phosphate metabolic process|sequestering of triglyceride|water-soluble vitamin metabolic process	basolateral plasma membrane|cell surface|extracellular space|integral to membrane	ATP binding|insulin receptor binding|metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|protein homodimerization activity|scavenger receptor activity	g.chr6:132203595C>T	M57736	CCDS5150.2	6q22-q23	2008-02-07			ENSG00000197594	ENSG00000197594	3.1.4.1, 3.6.1.9		3356	protein-coding gene	gene with protein product		173335		NPPS, M6S1, PDNP1		1315502	Standard	NM_006208		Approved	PC-1, PCA1	uc011ecf.2	P22413	OTTHUMG00000015572	ENST00000360971.2:c.2211C>T	6.37:g.132203595C>T							p.Y737Y	NM_006208.2	NP_006199.2	P22413	ENPP1_HUMAN		GBM - Glioblastoma multiforme(226;0.0216)|OV - Ovarian serous cystadenocarcinoma(155;0.022)	21	2231	+	Breast(56;0.0505)		737			Nuclease.		Q5T9R6|Q9NPZ3|Q9P1P6|Q9UP61|Q9Y6K3	Silent	SNP	ENST00000360971.2	37	c.2211C>T	CCDS5150.2																																																																																				0.383	ENPP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042238.2			32	179	0	0	0	1	0	32	179					T	132203595	C	T	132203595	2	4	53	1	0	0	0	0	0	0	0	1	5129	547	19	1		1	ENPP1	6	132203595	Silent	SNP	C	TCGA-EJ-5504-01A-01D-1576-08	56179488	132203595	38911472	26	2775											
ABCA13	154664	broad.mit.edu	37	chr7	48318519	48318519	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtgaaagaaatagctactttAaaaaaaatagatcatttcac	20	11	5	5	0	2	3	2	1	0	2	2	3	2	3	0	0	2	1	0	0	9	6			TCGA-EJ-5504-01A-01D-1576-08	TCGA-EJ-5504-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bd30acf-01c3-4c96-a016-63e8dce66217	316ecb66-2802-4972-9bdc-f11fd7f67801	g.chr7:48318519A>T	ENST00000435803.1	+	18	7752	c.7728A>T	c.(7726-7728)ttA>ttT	p.L2576F		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	2576					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)	p.L2576F(3)|p.L2521F(2)		breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						TAGCTACTTTAAAAAAAATAG	0.313																																						ENST00000435803.1																			5	Substitution - Missense(5)	p.L2576F(3)|p.L2521F(2)	prostate(5)	breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						c.(7726-7728)ttA>ttT		ATP-binding cassette, sub-family A (ABC1), member 13							54	58	57					7																	48318519		1794	4039	5833	SO:0001583	missense	154664				transport	integral to membrane	ATP binding|ATPase activity	g.chr7:48318519A>T	AY204751	CCDS47584.1	7p12.3	2012-03-14			ENSG00000179869	ENSG00000179869		"ATP binding cassette transporters / subfamily A"	14638	protein-coding gene	gene with protein product		607807				12697998	Standard	NM_152701		Approved	FLJ33876, FLJ33951	uc003toq.2	Q86UQ4	OTTHUMG00000155840	ENST00000435803.1:c.7728A>T	7.37:g.48318519A>T	ENSP00000411096:p.Leu2576Phe						p.L2576F	NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN			18	7752	+			2576					K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Missense_Mutation	SNP	ENST00000435803.1	37	c.7728A>T	CCDS47584.1	.	.	.	.	.	.	.	.	.	.	A	12.47	1.948855	0.34377	.	.	ENSG00000179869	ENST00000435803	T	0.61742	0.08	4.93	-3.18	0.05186	.	1.145970	0.06770	N	0.783306	T	0.40297	0.1111	L	0.29908	0.895	0.09310	N	1	B	0.34290	0.447	B	0.34180	0.177	T	0.40924	-0.9537	10	0.87932	D	0	.	3.8626	0.09002	0.4195:0.0:0.314:0.2665	.	2576	Q86UQ4	ABCAD_HUMAN	F	2576	ENSP00000411096:L2576F	ENSP00000411096:L2576F	L	+	3	2	ABCA13	48289065	0.000000	0.05858	0.000000	0.03702	0.062000	0.15995	-0.605000	0.05661	-0.329000	0.08527	-0.146000	0.13790	TTA		0.313	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341964.2	NM_152701		7	200	0	0	0	1	0	7	200					T	48318519	A	T	48318519	3	4	53	1	0	0	0	0	1	0	0	0	31	359	13	5	7627	5	ABCA13	7	48318519	Missense_Mutation	SNP	A	TCGA-EJ-5504-01A-01D-1576-08		48318519	110820144	27	2776											
C7orf63	79846	broad.mit.edu	37	chr7	89906575	89906575	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	acttaagctttctaattcctAtgaagattttgagttgaaga	13	16	7	5	0	1	5	0	3	1	2	2	5	2	5	1	0	1	2	1	0	5	8			TCGA-EJ-5504-01A-01D-1576-08	TCGA-EJ-5504-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bd30acf-01c3-4c96-a016-63e8dce66217	316ecb66-2802-4972-9bdc-f11fd7f67801	g.chr7:89906575A>G	ENST00000389297.4	+	11	1333	c.1082A>G	c.(1081-1083)tAt>tGt	p.Y361C	C7orf63_ENST00000497910.1_Missense_Mutation_p.Y343C|C7orf63_ENST00000316089.8_Missense_Mutation_p.Y361C	NM_001039706.2|NM_001160138.1	NP_001034795.2|NP_001153610.1	A5D8W1	CG063_HUMAN		361								p.Y361C(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(14)|ovary(1)|prostate(3)	37						TCTAATTCCTATGAAGATTTT	0.299																																						ENST00000389297.4																			1	Substitution - Missense(1)	p.Y361C(1)	prostate(1)	breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(14)|ovary(1)|prostate(3)	37						c.(1081-1083)tAt>tGt		chromosome 7 open reading frame 63							33	34	34					7																	89906575		1786	4026	5812	SO:0001583	missense	79846						binding	g.chr7:89906575A>G																												ENST00000389297.4:c.1082A>G	7.37:g.89906575A>G	ENSP00000373948:p.Tyr361Cys					C7orf63_ENST00000497910.1_Missense_Mutation_p.Y343C|C7orf63_ENST00000316089.8_Missense_Mutation_p.Y361C	p.Y361C	NM_001039706.2|NM_001160138.1	NP_001034795.2|NP_001153610.1	A5D8W1	CG063_HUMAN			11	1333	+			361					A3KMP9|B4DYW6|B4DZP7|B9EIM7|Q6V705|Q8IY89|Q9H7C2	Missense_Mutation	SNP	ENST00000389297.4	37	c.1082A>G	CCDS43613.2	.	.	.	.	.	.	.	.	.	.	A	22.0	4.224317	0.79576	.	.	ENSG00000105792	ENST00000389297;ENST00000316089;ENST00000497910	T;T;T	0.48522	0.81;0.81;0.82	6.03	6.03	0.97812	Armadillo-type fold (1);	0.377800	0.29473	N	0.012053	T	0.65238	0.2672	M	0.72118	2.19	0.46044	D	0.998834	D;D;D	0.69078	0.997;0.994;0.985	P;P;P	0.59424	0.857;0.847;0.77	T	0.66795	-0.5833	10	0.52906	T	0.07	-7.4339	16.5582	0.84512	1.0:0.0:0.0:0.0	.	343;361;361	A5D8W1-5;A5D8W1;A5D8W1-2	.;CG063_HUMAN;.	C	361;361;343	ENSP00000373948:Y361C;ENSP00000321753:Y361C;ENSP00000419549:Y343C	ENSP00000321753:Y361C	Y	+	2	0	C7orf63	89744511	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.773000	0.68898	2.308000	0.77769	0.533000	0.62120	TAT		0.299	C7orf63-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000139891.4			5	90	0	0	0	1	0	5	90					G	89906575	A	G	89906575	3	3	53	1	0	0	0	0	1	0	0	0	2409	449	16	4	1124	4	C7orf63	7	89906575	Missense_Mutation	SNP	A	TCGA-EJ-5504-01A-01D-1576-08	41588056	89906575	69232088	28	2777											
PTPRZ1	5803	broad.mit.edu	37	chr7	121652283	121652283	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	caaattccttctttcaatgaGatggtttacccttctgaaag	11	15	6	9	0	3	2	1	2	2	1	4	3	4	2	2	1	1	1	2	1	4	6			TCGA-EJ-5504-01A-01D-1576-08	TCGA-EJ-5504-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bd30acf-01c3-4c96-a016-63e8dce66217	316ecb66-2802-4972-9bdc-f11fd7f67801	g.chr7:121652283G>A	ENST00000393386.2	+	12	3594	c.3183G>A	c.(3181-3183)gaG>gaA	p.E1061E	PTPRZ1_ENST00000449182.1_Intron|PTPRZ1_ENST00000483028.1_Intron	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	1061					axonogenesis (GO:0007409)|central nervous system development (GO:0007417)|hematopoietic progenitor cell differentiation (GO:0002244)|learning or memory (GO:0007611)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of oligodendrocyte progenitor proliferation (GO:0070445)	integral component of plasma membrane (GO:0005887)|perineuronal net (GO:0072534)|proteinaceous extracellular matrix (GO:0005578)	protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.E1061E(3)		NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						CTTTCAATGAGATGGTTTACC	0.348																																						ENST00000393386.2																			3	Substitution - coding silent(3)	p.E1061E(3)	prostate(3)	NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						c.(3181-3183)gaG>gaA		protein tyrosine phosphatase, receptor-type, Z polypeptide 1							108	111	110					7																	121652283		2203	4300	6503	SO:0001819	synonymous_variant	5803				central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity	g.chr7:121652283G>A	M93426	CCDS34740.1, CCDS56505.1	7q31.3	2013-02-11			ENSG00000106278	ENSG00000106278		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Fibronectin type III domain containing"	9685	protein-coding gene	gene with protein product		176891		PTPZ, PTPRZ		7736789, 8387522	Standard	NM_001206838		Approved	PTP18, RPTPB, phosphacan	uc003vjy.3	P23471	OTTHUMG00000157057	ENST00000393386.2:c.3183G>A	7.37:g.121652283G>A						PTPRZ1_ENST00000449182.1_Intron|PTPRZ1_ENST00000483028.1_Intron	p.E1061E	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN			12	3594	+			1061					A4D0W5|C9JFM0|O76043|Q9UDR6	Silent	SNP	ENST00000393386.2	37	c.3183G>A	CCDS34740.1																																																																																				0.348	PTPRZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347288.1	NM_002851		32	195	0	0	0	1	0	32	195					A	121652283	G	A	121652283	2	1	53	1	0	0	0	0	0	0	0	1	12814	933	33	3		3	PTPRZ1	7	121652283	Silent	SNP	G	TCGA-EJ-5504-01A-01D-1576-08	31745708	121652283	37486380	29	2778											
SLC39A14	23516	broad.mit.edu	37	chr8	22265850	22265850	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttctggagacctcttcactGcccacaatttcagcgagcag	9	10	9	13	1	4	1	2	0	2	1	4	3	4	1	2	1	3	2	2	1	1	3			TCGA-EJ-5504-01A-01D-1576-08	TCGA-EJ-5504-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bd30acf-01c3-4c96-a016-63e8dce66217	316ecb66-2802-4972-9bdc-f11fd7f67801	g.chr8:22265850G>A	ENST00000381237.1	+	3	417	c.298G>A	c.(298-300)Gcc>Acc	p.A100T	SLC39A14_ENST00000359741.5_Missense_Mutation_p.A100T|SLC39A14_ENST00000240095.6_Missense_Mutation_p.A100T|SLC39A14_ENST00000289952.5_Missense_Mutation_p.A100T	NM_001128431.2	NP_001121903.1	Q15043	S39AE_HUMAN	solute carrier family 39 (zinc transporter), member 14	100					cellular zinc ion homeostasis (GO:0006882)|transmembrane transport (GO:0055085)|zinc ion transmembrane import (GO:0071578)|zinc ion transmembrane transport (GO:0071577)	cell projection (GO:0042995)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ferrous iron transmembrane transporter activity (GO:0015093)|zinc ion transmembrane transporter activity (GO:0005385)	p.A100T(1)		NS(1)|endometrium(4)|large_intestine(2)|lung(4)|prostate(1)	12				Colorectal(74;0.019)|COAD - Colon adenocarcinoma(73;0.0731)		CCTCTTCACTGCCCACAATTT	0.587																																						ENST00000359741.5																			1	Substitution - Missense(1)	p.A100T(1)	prostate(1)	NS(1)|endometrium(4)|large_intestine(2)|lung(4)|prostate(1)	12						c.(298-300)Gcc>Acc		solute carrier family 39 (zinc transporter), member 14							79	78	78					8																	22265850		2203	4300	6503	SO:0001583	missense	23516					endoplasmic reticulum|Golgi apparatus|integral to membrane|lamellipodium|plasma membrane	zinc ion transmembrane transporter activity	g.chr8:22265850G>A	D31887	CCDS6030.1, CCDS47822.1, CCDS47823.1	8p21.2	2013-05-22			ENSG00000104635	ENSG00000104635		"Solute carriers"	20858	protein-coding gene	gene with protein product		608736	"solute carrier family 39 (metal ion transporter), member 14"			12659941	Standard	NM_015359		Approved	KIAA0062, NET34, ZIP14	uc011kzh.2	Q15043	OTTHUMG00000097791	ENST00000381237.1:c.298G>A	8.37:g.22265850G>A	ENSP00000370635:p.Ala100Thr					SLC39A14_ENST00000289952.5_Missense_Mutation_p.A100T|SLC39A14_ENST00000381237.1_Missense_Mutation_p.A100T|SLC39A14_ENST00000240095.6_Missense_Mutation_p.A100T	p.A100T	NM_015359.4	NP_056174.2	Q15043	S39AE_HUMAN		Colorectal(74;0.019)|COAD - Colon adenocarcinoma(73;0.0731)	3	473	+			100					A6NH98|B4DIW3|B6EU88|D3DSR4|Q6ZME8|Q96BB3	Missense_Mutation	SNP	ENST00000381237.1	37	c.298G>A	CCDS47823.1	.	.	.	.	.	.	.	.	.	.	G	14.15	2.449622	0.43531	.	.	ENSG00000104635	ENST00000359741;ENST00000240095;ENST00000381237;ENST00000289952;ENST00000519960;ENST00000522881;ENST00000517552	T;T;T;T;T;T;T	0.66995	-0.22;-0.24;-0.22;-0.22;0.85;0.85;0.87	5.62	5.62	0.85841	.	0.190805	0.46758	D	0.000270	T	0.63698	0.2533	M	0.72118	2.19	0.37473	D	0.915699	B;B;B	0.16603	0.018;0.002;0.004	B;B;B	0.15052	0.012;0.005;0.009	T	0.61603	-0.7029	10	0.21540	T	0.41	-30.4146	12.5263	0.56087	0.08:0.0:0.92:0.0	.	100;100;100	Q15043-2;Q15043;B6EU88	.;S39AE_HUMAN;.	T	100	ENSP00000352779:A100T;ENSP00000240095:A100T;ENSP00000370635:A100T;ENSP00000289952:A100T;ENSP00000430629:A100T;ENSP00000429328:A100T;ENSP00000430564:A100T	ENSP00000240095:A100T	A	+	1	0	SLC39A14	22321795	1.000000	0.71417	1.000000	0.80357	0.879000	0.50718	3.052000	0.49893	2.648000	0.89879	0.561000	0.74099	GCC		0.587	SLC39A14-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000215039.2	XM_046677		5	146	0	0	0	1	0	5	146					A	22265850	G	A	22265850	3	1	53	1	0	0	0	0	1	0	0	0	14617	1319	46	3	304	3	SLC39A14	8	22265850	Missense_Mutation	SNP	G	TCGA-EJ-5504-01A-01D-1576-08		22265850	124098172	30	2779											
MYST3	7994	broad.mit.edu	37	chr8	41800403	41800403	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctgagaccacagagttggAcactatgactggagtccagc	11	8	11	11	0	1	3	0	2	1	2	2	6	2	5	2	2	1	1	2	2	1	2			TCGA-EJ-5504-01A-01D-1576-08	TCGA-EJ-5504-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bd30acf-01c3-4c96-a016-63e8dce66217	316ecb66-2802-4972-9bdc-f11fd7f67801	g.chr8:41800403A>C	ENST00000396930.3	-	15	2887	c.2344T>G	c.(2344-2346)Tcc>Gcc	p.S782A	KAT6A_ENST00000265713.2_Missense_Mutation_p.S782A|KAT6A_ENST00000406337.1_Missense_Mutation_p.S782A|KAT6A_ENST00000485568.1_Missense_Mutation_p.S782A	NM_001099412.1	NP_001092882.1	Q92794	KAT6A_HUMAN	K(lysine) acetyltransferase 6A	782	Mediates interaction with BRPF1, required for histone H3 acetyltransferase activity.				aorta morphogenesis (GO:0035909)|cellular senescence (GO:0090398)|chromatin organization (GO:0006325)|DNA packaging (GO:0006323)|embryonic hemopoiesis (GO:0035162)|face morphogenesis (GO:0060325)|heart morphogenesis (GO:0003007)|histone acetylation (GO:0016573)|histone H3 acetylation (GO:0043966)|myeloid cell differentiation (GO:0030099)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive regulation of transcription, DNA-templated (GO:0045893)|protein acetylation (GO:0006473)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	Golgi apparatus (GO:0005794)|MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|PML body (GO:0016605)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.S782A(2)									ACAGAGTTGGACACTATGACT	0.488																																						ENST00000396930.3																			2	Substitution - Missense(2)	p.S782A(2)	prostate(2)								c.(2344-2346)Tcc>Gcc		K(lysine) acetyltransferase 6A							133	128	130					8																	41800403		2203	4300	6503	SO:0001583	missense	7994				histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding	g.chr8:41800403A>C	U47742	CCDS6124.1	8p11	2013-01-28	2011-07-21	2011-07-21	ENSG00000083168	ENSG00000083168		"Chromatin-modifying enzymes / K-acetyltransferases", "Zinc fingers, C2HC-type containing", "Zinc fingers, PHD-type"	13013	protein-coding gene	gene with protein product	"Monocytic leukemia zinc finger protein"	601408	"runt-related transcription factor binding protein 2", "MYST histone acetyltransferase (monocytic leukemia) 3"	ZNF220, RUNXBP2, MYST3		8849440, 8782817	Standard	NM_001099412		Approved	MOZ, ZC2HC6A	uc003xon.4	Q92794	OTTHUMG00000150453	ENST00000396930.3:c.2344T>G	8.37:g.41800403A>C	ENSP00000380136:p.Ser782Ala					KAT6A_ENST00000265713.2_Missense_Mutation_p.S782A|KAT6A_ENST00000406337.1_Missense_Mutation_p.S782A|KAT6A_ENST00000485568.1_Missense_Mutation_p.S782A	p.S782A	NM_001099412.1	NP_001092882.1	Q92794	MYST3_HUMAN			15	2887	-			782			Mediates interaction with BRPF1, required for histone H3 acetyltransferase activity.		Q76L81	Missense_Mutation	SNP	ENST00000396930.3	37	c.2344T>G	CCDS6124.1	.	.	.	.	.	.	.	.	.	.	A	13.87	2.365599	0.41902	.	.	ENSG00000083168	ENST00000265713;ENST00000406337;ENST00000396930;ENST00000418721;ENST00000485568	T;T;T;D	0.83992	0.25;0.25;0.25;-1.79	6.04	6.04	0.98038	.	0.149428	0.48286	D	0.000194	T	0.76435	0.3987	L	0.41124	1.26	0.30155	N	0.802717	B;B	0.26195	0.028;0.144	B;B	0.21546	0.016;0.035	T	0.75039	-0.3458	10	0.59425	D	0.04	-9.2936	11.6303	0.51171	0.8674:0.0:0.0:0.1326	.	782;782	A5PLL3;Q92794	.;KAT6A_HUMAN	A	782;782;782;362;782	ENSP00000265713:S782A;ENSP00000385888:S782A;ENSP00000380136:S782A;ENSP00000430606:S782A	ENSP00000265713:S782A	S	-	1	0	KAT6A	41919560	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	4.416000	0.59815	2.317000	0.78254	0.459000	0.35465	TCC		0.488	KAT6A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318163.1	NM_006766		14	213	0	0	0	1	0	14	213					C	41800403	A	C	41800403	3	2	53	1	0	0	0	0	1	0	0	0	10104	275	10	5	3686	5	MYST3	8	41800403	Missense_Mutation	SNP	A	TCGA-EJ-5504-01A-01D-1576-08	19534553	41800403	104563619	31	2780											
CA8	767	broad.mit.edu	37	chr8	61144866	61144866	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacaaacagagcaatgatggCgattccgtgcggcttcccca	12	7	10	12	3	0	2	0	1	0	1	2	3	2	2	3	2	4	2	3	2	3	2			TCGA-EJ-5504-01A-01D-1576-08	TCGA-EJ-5504-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bd30acf-01c3-4c96-a016-63e8dce66217	316ecb66-2802-4972-9bdc-f11fd7f67801	g.chr8:61144866C>T	ENST00000317995.4	-	4	754	c.490G>A	c.(490-492)Gcc>Acc	p.A164T	CA8_ENST00000528666.1_5'UTR	NM_004056.4	NP_004047.3	P35219	CAH8_HUMAN	carbonic anhydrase VIII	164					one-carbon metabolic process (GO:0006730)|phosphatidylinositol-mediated signaling (GO:0048015)	cytoplasm (GO:0005737)	carbonate dehydratase activity (GO:0004089)|zinc ion binding (GO:0008270)	p.A164T(1)		endometrium(2)|large_intestine(5)|lung(6)|prostate(2)|skin(1)	16		all_cancers(86;0.172)|all_epithelial(80;0.0383)|all_lung(136;0.0413)|Lung NSC(129;0.0474)			Zonisamide(DB00909)	GCAATGATGGCGATTCCGTGC	0.433																																						ENST00000317995.4																			1	Substitution - Missense(1)	p.A164T(1)	prostate(1)	endometrium(2)|large_intestine(5)|lung(6)|prostate(2)|skin(1)	16						c.(490-492)Gcc>Acc		carbonic anhydrase VIII							175	163	167					8																	61144866		2203	4300	6503	SO:0001583	missense	767				one-carbon metabolic process		carbonate dehydratase activity|zinc ion binding	g.chr8:61144866C>T	L04656	CCDS6174.1	8q12.1	2012-08-21			ENSG00000178538	ENSG00000178538		"Carbonic anhydrases"	1382	protein-coding gene	gene with protein product		114815		CALS		17219437	Standard	NM_004056		Approved	CARP	uc003xtz.1	P35219	OTTHUMG00000165325	ENST00000317995.4:c.490G>A	8.37:g.61144866C>T	ENSP00000314407:p.Ala164Thr					CA8_ENST00000528666.1_5'UTR	p.A164T	NM_004056.4	NP_004047.3	P35219	CAH8_HUMAN			4	754	-		all_cancers(86;0.172)|all_epithelial(80;0.0383)|all_lung(136;0.0413)|Lung NSC(129;0.0474)	164					A8K0A5|B3KQZ7|Q32MY2	Missense_Mutation	SNP	ENST00000317995.4	37	c.490G>A	CCDS6174.1	.	.	.	.	.	.	.	.	.	.	C	18.74	3.688273	0.68271	.	.	ENSG00000178538	ENST00000317995	T	0.78481	-1.18	4.69	4.69	0.59074	Carbonic anhydrase, alpha-class, catalytic domain (4);	0.412986	0.27176	N	0.020561	T	0.73156	0.3551	M	0.67397	2.05	0.45962	D	0.998782	P	0.45011	0.848	B	0.30716	0.119	T	0.80743	-0.1246	10	0.87932	D	0	.	17.9494	0.89047	0.0:1.0:0.0:0.0	.	164	P35219	CAH8_HUMAN	T	164	ENSP00000314407:A164T	ENSP00000314407:A164T	A	-	1	0	CA8	61307420	0.997000	0.39634	0.934000	0.37439	0.934000	0.57294	3.082000	0.50128	2.319000	0.78375	0.650000	0.86243	GCC		0.433	CA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383445.1			6	146	0	0	0	1	0	6	146					T	61144866	C	T	61144866	3	4	53	1	0	0	0	0	1	0	0	0	2523	768	27	1	402	1	CA8	8	61144866	Missense_Mutation	SNP	C	TCGA-EJ-5504-01A-01D-1576-08	19344463	61144866	85219156	32	2781											
VPS13B	157680	broad.mit.edu	37	chr8	100866139	100866139	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taaaacctgctcggttatacGtggaagacacatttgtatac	13	12	8	8	2	0	1	0	0	0	1	1	2	0	2	1	2	4	3	1	2	7	6	rs142957181		TCGA-EJ-5504-01A-01D-1576-08	TCGA-EJ-5504-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bd30acf-01c3-4c96-a016-63e8dce66217	316ecb66-2802-4972-9bdc-f11fd7f67801	g.chr8:100866139G>A	ENST00000358544.2	+	56	10708	c.10597G>A	c.(10597-10599)Gtg>Atg	p.V3533M	VPS13B_ENST00000357162.2_Missense_Mutation_p.V3508M|VPS13B_ENST00000395996.1_3'UTR	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	3533					protein transport (GO:0015031)			p.V3533M(1)|p.V3508M(1)		NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			TCGGTTATACGTGGAAGACAC	0.408																																					Colon(161;2205 2542 7338 31318)	ENST00000358544.2																			2	Substitution - Missense(2)	p.V3533M(1)|p.V3508M(1)	prostate(2)	NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193						c.(10597-10599)Gtg>Atg		vacuolar protein sorting 13 homolog B (yeast)		G	MET/VAL,MET/VAL	1,4405	2.1+/-5.4	0,1,2202	114	117	116		10597,10522	4.6	0.9	8	dbSNP_134	116	0,8600		0,0,4300	no	missense,missense	VPS13B	NM_017890.3,NM_152564.3	21,21	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	possibly-damaging,possibly-damaging	3533/4023,3508/3998	100866139	1,13005	2203	4300	6503	SO:0001583	missense	157680				protein transport			g.chr8:100866139G>A	AJ608772	CCDS6280.1, CCDS6281.1, CCDS6283.1, CCDS47903.1	8q22-q23	2014-09-17	2006-12-19	2005-04-08	ENSG00000132549	ENSG00000132549			2183	protein-coding gene	gene with protein product		607817	"Cohen syndrome 1"	CHS1, COH1		7920642, 15498460	Standard	NM_181661		Approved		uc003yiv.4	Q7Z7G8	OTTHUMG00000140383	ENST00000358544.2:c.10597G>A	8.37:g.100866139G>A	ENSP00000351346:p.Val3533Met					VPS13B_ENST00000357162.2_Missense_Mutation_p.V3508M|VPS13B_ENST00000395996.1_3'UTR	p.V3533M	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.00636)		56	10708	+	Breast(36;3.73e-07)		3533					C9JD30|Q709C6|Q709C7|Q7Z7G4|Q7Z7G5|Q7Z7G6|Q7Z7G7|Q8NB77|Q9NWV1|Q9Y4E7	Missense_Mutation	SNP	ENST00000358544.2	37	c.10597G>A	CCDS6280.1	.	.	.	.	.	.	.	.	.	.	G	17.28	3.348440	0.61183	2.27E-4	0.0	ENSG00000132549	ENST00000357162;ENST00000358544	T;T	0.71934	-0.61;-0.61	5.54	4.64	0.57946	.	0.165981	0.40144	N	0.001173	T	0.66228	0.2768	L	0.34521	1.04	0.80722	D	1	D;D	0.60160	0.985;0.987	P;P	0.49887	0.625;0.502	T	0.68168	-0.5480	10	0.56958	D	0.05	.	11.139	0.48392	0.0:0.139:0.7166:0.1444	.	3508;3533	Q7Z7G8-2;Q7Z7G8	.;VP13B_HUMAN	M	3508;3533	ENSP00000349685:V3508M;ENSP00000351346:V3533M	ENSP00000349685:V3508M	V	+	1	0	VPS13B	100935315	1.000000	0.71417	0.884000	0.34674	0.974000	0.67602	2.710000	0.47169	1.271000	0.44313	0.555000	0.69702	GTG		0.408	VPS13B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000277138.1	NM_184042		6	319	0	0	0	1	0	6	319					A	100866139	G	A	100866139	3	1	53	1	0	0	0	0	1	0	0	0	17187	1145	40	1	11009	1	VPS13B	8	100866139	Missense_Mutation	SNP	G	TCGA-EJ-5504-01A-01D-1576-08	39721273	100866139	45497883	33	2782											
PKHD1L1	93035	broad.mit.edu	37	chr8	110457746	110457746	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccccaatgaagtctactgccGcactcccgctgggaccactg	8	7	9	17	2	1	1	0	1	1	0	2	2	2	2	5	1	2	2	5	1	3	1	rs201130267	byFrequency	TCGA-EJ-5504-01A-01D-1576-08	TCGA-EJ-5504-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bd30acf-01c3-4c96-a016-63e8dce66217	316ecb66-2802-4972-9bdc-f11fd7f67801	g.chr8:110457746G>A	ENST00000378402.5	+	38	5752	c.5648G>A	c.(5647-5649)cGc>cAc	p.R1883H		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	1883	IPT/TIG 11.				immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)	p.R1883H(1)|p.R1885H(1)		NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			GTCTACTGCCGCACTCCCGCT	0.438										HNSCC(38;0.096)																												ENST00000378402.5																			2	Substitution - Missense(2)	p.R1883H(1)|p.R1885H(1)	prostate(2)	NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263						c.(5647-5649)cGc>cAc		polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1							46	47	46					8																	110457746		1917	4138	6055	SO:0001583	missense	93035				immune response	cytosol|extracellular space|integral to membrane	receptor activity	g.chr8:110457746G>A	AY219181	CCDS47911.1	8q23	2003-03-28			ENSG00000205038	ENSG00000205038			20313	protein-coding gene	gene with protein product		607843				12620974	Standard	NM_177531		Approved		uc003yne.3	Q86WI1	OTTHUMG00000164934	ENST00000378402.5:c.5648G>A	8.37:g.110457746G>A	ENSP00000367655:p.Arg1883His	HNSCC(38;0.096)					p.R1883H	NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)		38	5752	+			1883			IPT/TIG 11.		Q567P2|Q9UF27	Missense_Mutation	SNP	ENST00000378402.5	37	c.5648G>A	CCDS47911.1	.	.	.	.	.	.	.	.	.	.	G	1.039	-0.679434	0.03353	.	.	ENSG00000205038	ENST00000378402	T	0.76968	-1.06	5.91	-9.23	0.00672	Cell surface receptor IPT/TIG (2);Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	1.395380	0.04182	N	0.326632	T	0.59542	0.2201	N	0.22421	0.69	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.46359	-0.9197	10	0.14656	T	0.56	.	11.9795	0.53111	0.7161:0.0:0.139:0.1449	.	1883	Q86WI1	PKHL1_HUMAN	H	1883	ENSP00000367655:R1883H	ENSP00000367655:R1883H	R	+	2	0	PKHD1L1	110526922	0.000000	0.05858	0.000000	0.03702	0.055000	0.15305	-2.163000	0.01276	-1.620000	0.01564	-0.880000	0.02959	CGC		0.438	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381017.1	NM_177531		11	45	0	0	0	1	0	11	45					A	110457746	G	A	110457746	3	1	53	1	0	0	0	0	1	0	0	0	11972	1087	38	1	5798	1	PKHD1L1	8	110457746	Missense_Mutation	SNP	G	TCGA-EJ-5504-01A-01D-1576-08	9591607	110457746	35906276	34	2783											
CA9	768	broad.mit.edu	37	chr9	35674081	35674081	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccatccccagaggttgccccGgatgcaggaggattccccct	7	7	11	16	1	0	1	0	0	0	1	2	4	2	4	7	4	2	2	7	4	0	2	rs200651095		TCGA-EJ-5504-01A-01D-1576-08	TCGA-EJ-5504-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bd30acf-01c3-4c96-a016-63e8dce66217	316ecb66-2802-4972-9bdc-f11fd7f67801	g.chr9:35674081G>A	ENST00000378357.4	+	1	229	c.125G>A	c.(124-126)cGg>cAg	p.R42Q	RN7SL22P_ENST00000471800.2_RNA	NM_001216.2	NP_001207.2	Q16790	CAH9_HUMAN	carbonic anhydrase IX	42	Proteoglycan-like (PG).				bicarbonate transport (GO:0015701)|cellular response to hypoxia (GO:0071456)|morphogenesis of an epithelium (GO:0002009)|one-carbon metabolic process (GO:0006730)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|response to drug (GO:0042493)|response to testosterone (GO:0033574)|secretion (GO:0046903)|small molecule metabolic process (GO:0044281)	basolateral plasma membrane (GO:0016323)|cell projection (GO:0042995)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	carbonate dehydratase activity (GO:0004089)|zinc ion binding (GO:0008270)	p.R42Q(1)		kidney(1)|large_intestine(3)|lung(5)|ovary(4)|prostate(1)|skin(2)|urinary_tract(1)	17	all_epithelial(49;0.217)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)		Benzthiazide(DB00562)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Zonisamide(DB00909)	AGGTTGCCCCGGATGCAGGAG	0.622													G|||	1	0.000199681	8e-04	0	5008	,	,		18396	0		0	False		,,,				2504	0					ENST00000378357.4																			1	Substitution - Missense(1)	p.R42Q(1)	prostate(1)	kidney(1)|large_intestine(3)|lung(5)|ovary(4)|prostate(1)|skin(2)|urinary_tract(1)	17						c.(124-126)cGg>cAg		carbonic anhydrase IX							56	52	53					9																	35674081		2203	4300	6503	SO:0001583	missense	768				one-carbon metabolic process	integral to membrane|microvillus membrane|nucleolus	carbonate dehydratase activity|zinc ion binding	g.chr9:35674081G>A	X66839	CCDS6585.1	9p13.3	2012-08-21			ENSG00000107159	ENSG00000107159		"Carbonic anhydrases"	1383	protein-coding gene	gene with protein product	"carbonic dehydratase", "RCC-associated protein G250"	603179				8661007, 9787087	Standard	NM_001216		Approved	MN, CAIX	uc003zxo.4	Q16790	OTTHUMG00000021029	ENST00000378357.4:c.125G>A	9.37:g.35674081G>A	ENSP00000367608:p.Arg42Gln						p.R42Q	NM_001216.2	NP_001207.2	Q16790	CAH9_HUMAN	Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)		1	229	+	all_epithelial(49;0.217)		42			Proteoglycan-like (PG).		Q5T4R1	Missense_Mutation	SNP	ENST00000378357.4	37	c.125G>A	CCDS6585.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	10.60	1.394606	0.25205	.	.	ENSG00000107159	ENST00000378357;ENST00000544074	T	0.63913	-0.07	4.73	-1.72	0.08107	.	3.304940	0.00834	N	0.001698	T	0.43188	0.1236	N	0.12182	0.205	0.09310	N	1	B;B	0.12013	0.005;0.003	B;B	0.04013	0.001;0.0	T	0.21861	-1.0233	10	0.23302	T	0.38	.	8.4855	0.33069	0.5179:0.0:0.4821:0.0	.	42;42	F5H404;Q16790	.;CAH9_HUMAN	Q	42	ENSP00000367608:R42Q	ENSP00000367608:R42Q	R	+	2	0	CA9	35664081	0.000000	0.05858	0.009000	0.14445	0.009000	0.06853	-0.376000	0.07465	-0.475000	0.06852	-0.290000	0.09829	CGG		0.622	CA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055479.1	NM_001216		15	81	0	0	0	1	0	15	81					A	35674081	G	A	35674081	3	1	53	1	0	0	0	0	1	0	0	0	2524	1116	39	2	127	2	CA9	9	35674081	Missense_Mutation	SNP	G	TCGA-EJ-5504-01A-01D-1576-08		35674081	105539350	35	2784											
TJP2	9414	broad.mit.edu	37	chr9	71841089	71841089	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgacagtgactcagaaatagAaggtaaaggaagaggaggct	17	6	14	4	0	1	5	1	2	0	3	1	7	1	7	0	4	0	2	0	4	6	2			TCGA-EJ-5504-01A-01D-1576-08	TCGA-EJ-5504-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bd30acf-01c3-4c96-a016-63e8dce66217	316ecb66-2802-4972-9bdc-f11fd7f67801	g.chr9:71841089A>G	ENST00000377245.4	+	7	1416	c.1208A>G	c.(1207-1209)gAa>gGa	p.E403G	TJP2_ENST00000539225.1_Missense_Mutation_p.E434G|TJP2_ENST00000348208.4_Missense_Mutation_p.E403G|TJP2_ENST00000453658.2_Missense_Mutation_p.E380G|TJP2_ENST00000265384.7_Missense_Mutation_p.E403G|TJP2_ENST00000535702.1_Missense_Mutation_p.E407G	NM_004817.3	NP_004808.2	Q9UDY2	ZO2_HUMAN	tight junction protein 2	403					apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|hippo signaling (GO:0035329)|nucleotide phosphorylation (GO:0046939)|response to organic substance (GO:0010033)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	guanylate kinase activity (GO:0004385)	p.E403G(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(5)|lung(9)|prostate(3)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	35						TCAGAAATAGAAGGTAAAGGA	0.433																																						ENST00000377245.4																			1	Substitution - Missense(1)	p.E403G(1)	prostate(1)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(5)|lung(9)|prostate(3)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	35						c.(1207-1209)gAa>gGa		tight junction protein 2							52	50	51					9																	71841089		2203	4300	6503	SO:0001583	missense	9414				cellular component disassembly involved in apoptosis	adherens junction|cytoplasm|nucleus|tight junction	guanylate kinase activity|protein binding	g.chr9:71841089A>G	L27476	CCDS6627.1, CCDS6628.1, CCDS55314.1, CCDS55315.1, CCDS55316.1, CCDS55317.1	9q13-q21	2012-07-12	2012-07-12		ENSG00000119139	ENSG00000119139			11828	protein-coding gene	gene with protein product	"Friedreich ataxia region gene X104 (tight junction protein ZO-2)", "zona occludens 2"	607709	"deafness, autosomal dominant 51"	DFNA51		7951235, 20602916	Standard	NM_001170630		Approved	ZO-2, X104, ZO2	uc011lrv.2	Q9UDY2	OTTHUMG00000019978	ENST00000377245.4:c.1208A>G	9.37:g.71841089A>G	ENSP00000366453:p.Glu403Gly					TJP2_ENST00000453658.2_Missense_Mutation_p.E380G|TJP2_ENST00000265384.7_Missense_Mutation_p.E403G|TJP2_ENST00000539225.1_Missense_Mutation_p.E434G|TJP2_ENST00000348208.4_Missense_Mutation_p.E403G|TJP2_ENST00000535702.1_Missense_Mutation_p.E407G	p.E403G	NM_004817.3	NP_004808.2	Q9UDY2	ZO2_HUMAN			7	1416	+			403					A2A3H9|B7Z2R8|B7Z7T6|F5H301|F5H886|Q15883|Q5VXL0|Q5VXL1|Q8N756|Q8NI14|Q99839|Q9UDY0|Q9UDY1	Missense_Mutation	SNP	ENST00000377245.4	37	c.1208A>G	CCDS6627.1	.	.	.	.	.	.	.	.	.	.	A	18.75	3.691601	0.68271	.	.	ENSG00000119139	ENST00000453658;ENST00000377245;ENST00000348208;ENST00000265384;ENST00000535702;ENST00000539225	T;T;T;T;T;T	0.10288	2.91;2.92;2.91;2.89;2.91;2.97	5.89	5.89	0.94794	.	0.188760	0.51477	D	0.000092	T	0.10165	0.0249	L	0.38531	1.155	0.58432	D	0.999993	B;B;B;B;B	0.15930	0.003;0.009;0.01;0.001;0.015	B;B;B;B;B	0.15052	0.01;0.012;0.009;0.003;0.009	T	0.07693	-1.0759	10	0.49607	T	0.09	.	10.6203	0.45476	0.9287:0.0:0.0713:0.0	.	434;407;403;403;403	F5H301;F5H886;Q9UDY2-2;Q9UDY2;Q9UDY2-5	.;.;.;ZO2_HUMAN;.	G	380;403;403;403;407;434	ENSP00000392178:E380G;ENSP00000366453:E403G;ENSP00000345893:E403G;ENSP00000265384:E403G;ENSP00000442090:E407G;ENSP00000438262:E434G	ENSP00000265384:E403G	E	+	2	0	TJP2	71030909	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	7.134000	0.77268	2.257000	0.74773	0.460000	0.39030	GAA		0.433	TJP2-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000052572.2	NM_201629		11	53	0	0	0	1	0	11	53					G	71841089	A	G	71841089	3	3	53	1	0	0	0	0	1	0	0	0	15927	246	9	4	1391	4	TJP2	9	71841089	Missense_Mutation	SNP	A	TCGA-EJ-5504-01A-01D-1576-08	36167008	71841089	69372342	36	2785											
ZBTB34	403341	broad.mit.edu	37	chr9	129642273	129642273	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aagctttgcgcagccgcttaCaggaggaggggcactcagac	10	6	14	11	2	1	1	1	0	0	1	1	3	1	3	1	4	4	4	1	4	2	2			TCGA-EJ-5504-01A-01D-1576-08	TCGA-EJ-5504-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bd30acf-01c3-4c96-a016-63e8dce66217	316ecb66-2802-4972-9bdc-f11fd7f67801	g.chr9:129642273C>T	ENST00000373452.2	+	1	647	c.583C>T	c.(583-585)Cag>Tag	p.Q195*	ZBTB34_ENST00000319119.4_Nonsense_Mutation_p.Q199*			Q8NCN2	ZBT34_HUMAN	zinc finger and BTB domain containing 34	195					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.Q199*(1)|p.Q195*(1)		endometrium(3)|large_intestine(2)|lung(2)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	12						CAGCCGCTTACAGGAGGAGGG	0.582																																						ENST00000319119.4																			2	Substitution - Nonsense(2)	p.Q199*(1)|p.Q195*(1)	prostate(2)	endometrium(3)|large_intestine(2)|lung(2)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	12						c.(595-597)Cag>Tag		zinc finger and BTB domain containing 34							43	48	46					9																	129642273		1954	4128	6082	SO:0001587	stop_gained	403341				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:129642273C>T	DQ227306	CCDS48023.1	9q33.3	2013-01-08			ENSG00000177125	ENSG00000177125		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	31446	protein-coding gene	gene with protein product		611692				16718364	Standard	NM_001099270		Approved	KIAA1993, MGC24652, ZNF918	uc004bqm.4	Q8NCN2	OTTHUMG00000020694	ENST00000373452.2:c.583C>T	9.37:g.129642273C>T	ENSP00000362551:p.Gln195*					ZBTB34_ENST00000373452.2_Nonsense_Mutation_p.Q195*	p.Q199*	NM_001099270.1	NP_001092740.1	Q8NCN2	ZBT34_HUMAN			2	680	+			195					Q38IA7|Q5VYE9	Nonsense_Mutation	SNP	ENST00000373452.2	37	c.595C>T	CCDS48023.1	.	.	.	.	.	.	.	.	.	.	C	37	6.278606	0.97435	.	.	ENSG00000177125	ENST00000319119;ENST00000373452	.	.	.	5.54	5.54	0.83059	.	0.193001	0.45126	D	0.000394	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.05436	T	0.98	.	19.8339	0.96646	0.0:1.0:0.0:0.0	.	.	.	.	X	199;195	.	ENSP00000317534:Q199X	Q	+	1	0	ZBTB34	128682094	1.000000	0.71417	0.992000	0.48379	0.998000	0.95712	5.251000	0.65438	2.751000	0.94390	0.655000	0.94253	CAG		0.582	ZBTB34-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001099270		16	83	0	0	0	1	0	16	83					T	129642273	C	T	129642273	4	4	53	1	0	0	0	0	0	1	0	0	17534	479	17	3	585	3	ZBTB34	9	129642273	Nonsense_Mutation	SNP	C	TCGA-EJ-5504-01A-01D-1576-08	57801184	129642273	11571158	37	2786											
ZNF365	22891	broad.mit.edu	37	chr10	64159482	64159482	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ggggagctcctggggtttggCcgcaaaggcaacatcaggcc	8	6	16	11	1	1	0	1	0	0	0	2	1	2	1	3	7	2	4	3	7	2	1			TCGA-EJ-5504-01A-01D-1576-08	TCGA-EJ-5504-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bd30acf-01c3-4c96-a016-63e8dce66217	316ecb66-2802-4972-9bdc-f11fd7f67801	g.chr10:64159482C>T	ENST00000395254.3	+	5	1438	c.1158C>T	c.(1156-1158)ggC>ggT	p.G386G	ZNF365_ENST00000466727.1_3'UTR|ZNF365_ENST00000410046.3_Intron|ZNF365_ENST00000395255.3_Intron	NM_014951.2	NP_055766.2	Q70YC4	TALAN_HUMAN	zinc finger protein 365	0								p.G386G(2)		breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27	Prostate(12;0.0297)|all_hematologic(501;0.228)					TGGGGTTTGGCCGCAAAGGCA	0.537																																						ENST00000395254.3																			2	Substitution - coding silent(2)	p.G386G(2)	prostate(1)|endometrium(1)	breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						c.(1156-1158)ggC>ggT		zinc finger protein 365							58	58	58					10																	64159482		2203	4300	6503	SO:0001819	synonymous_variant	22891							g.chr10:64159482C>T	AB020651	CCDS7264.1, CCDS7265.1, CCDS31209.1, CCDS41531.1	10q21.2	2008-10-28			ENSG00000138311	ENSG00000138311		"Zinc fingers, C2H2-type"	18194	protein-coding gene	gene with protein product	"Talanin"	607818				10048485, 12740763	Standard	NM_199450		Approved	KIAA0844, UAN	uc001jmc.2	Q70YC4	OTTHUMG00000018302	ENST00000395254.3:c.1158C>T	10.37:g.64159482C>T						ZNF365_ENST00000410046.3_Intron|ZNF365_ENST00000466727.1_3'UTR|ZNF365_ENST00000395255.3_Intron	p.G386G	NM_014951.2	NP_055766.2	Q70YC4	TALAN_HUMAN			5	1438	+	Prostate(12;0.0297)|all_hematologic(501;0.228)		0						Silent	SNP	ENST00000395254.3	37	c.1158C>T	CCDS31209.1																																																																																				0.537	ZNF365-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048238.2	NM_014951		4	121	0	0	0	1	0	4	121					T	64159482	C	T	64159482	2	4	53	1	0	0	0	0	0	0	0	1	17866	726	26	3		3	ZNF365	10	64159482	Silent	SNP	C	TCGA-EJ-5504-01A-01D-1576-08		64159482	71375265	38	2787											
DHX32	55760	broad.mit.edu	37	chr10	127525312	127525312	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cgtctcacacatttgctgttCcttattcattgttgacacag	8	16	6	11	1	2	1	2	1	1	0	4	1	3	1	1	0	1	3	1	0	1	6			TCGA-EJ-5504-01A-01D-1576-08	TCGA-EJ-5504-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bd30acf-01c3-4c96-a016-63e8dce66217	316ecb66-2802-4972-9bdc-f11fd7f67801	g.chr10:127525312C>A	ENST00000284690.3	-	11	2666	c.2176G>T	c.(2176-2178)Gaa>Taa	p.E726*	BCCIP_ENST00000368759.5_Intron|DHX32_ENST00000284688.6_Nonsense_Mutation_p.E645*|BCCIP_ENST00000429863.2_Intron|BCCIP_ENST00000299130.3_Intron|DHX32_ENST00000368721.1_Nonsense_Mutation_p.E350*	NM_018180.2	NP_060650.2	Q7L7V1	DHX32_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 32	726						mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)	p.E726*(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(2)|stomach(1)	29		all_lung(145;0.00751)|Lung NSC(174;0.0115)|Colorectal(57;0.0846)|all_neural(114;0.0936)				ATTTGCTGTTCCTTATTCATT	0.473																																						ENST00000284690.3																			1	Substitution - Nonsense(1)	p.E726*(1)	prostate(1)	breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(2)|stomach(1)	29						c.(2176-2178)Gaa>Taa		DEAH (Asp-Glu-Ala-His) box polypeptide 32							234	174	195					10																	127525312		2203	4300	6503	SO:0001587	stop_gained	55760					mitochondrion|nucleus	ATP binding|helicase activity	g.chr10:127525312C>A		CCDS7652.1	10q26.11-q26.2	2008-01-07	2004-01-29	2004-01-30	ENSG00000089876	ENSG00000089876		"DEAH-boxes"	16717	protein-coding gene	gene with protein product		607960	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 32"	DDX32			Standard	NM_018180		Approved	FLJ10889, FLJ10694, DHLP1	uc001ljf.1	Q7L7V1	OTTHUMG00000019238	ENST00000284690.3:c.2176G>T	10.37:g.127525312C>A	ENSP00000284690:p.Glu726*					BCCIP_ENST00000299130.3_Intron|DHX32_ENST00000368721.1_Nonsense_Mutation_p.E350*|BCCIP_ENST00000429863.2_Intron|BCCIP_ENST00000368759.5_Intron|DHX32_ENST00000284688.6_Nonsense_Mutation_p.E645*	p.E726*	NM_018180.2	NP_060650.2	Q7L7V1	DHX32_HUMAN			11	2666	-		all_lung(145;0.00751)|Lung NSC(174;0.0115)|Colorectal(57;0.0846)|all_neural(114;0.0936)	726					A8MSV2|D3DRF9|Q49AG5|Q5T3L0|Q5T3L5|Q96NY1|Q9BUN0|Q9H769|Q9NSL5|Q9NV74|Q9NVJ7	Nonsense_Mutation	SNP	ENST00000284690.3	37	c.2176G>T	CCDS7652.1	.	.	.	.	.	.	.	.	.	.	C	39	7.439232	0.98286	.	.	ENSG00000089876	ENST00000368721;ENST00000284690;ENST00000284688	.	.	.	5.14	5.14	0.70334	.	0.386535	0.24488	N	0.038092	.	.	.	.	.	.	0.58432	D	0.999999	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-11.0484	14.1302	0.65247	0.0:0.9259:0.0:0.0741	.	.	.	.	X	350;726;645	.	ENSP00000284688:E645X	E	-	1	0	DHX32	127515302	0.998000	0.40836	0.831000	0.32960	0.230000	0.25150	1.322000	0.33689	2.680000	0.91292	0.563000	0.77884	GAA		0.473	DHX32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050945.2	NM_018180		11	90	1	0	4.68919e-08	1	5.17428e-08	11	90					A	127525312	C	A	127525312	4	1	53	1	0	0	0	0	0	1	0	0	4505	864	30	5	59	5	DHX32	10	127525312	Nonsense_Mutation	SNP	C	TCGA-EJ-5504-01A-01D-1576-08	63365830	127525312	8009435	39	2788											
OR5R1	219479	broad.mit.edu	37	chr11	56185673	56185673	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttggtaattcctttcagaatGaatacagtgacataaatgat	15	14	7	5	0	1	4	1	3	0	1	2	4	2	4	1	1	1	1	1	1	6	6			TCGA-EJ-5504-01A-01D-1576-08	TCGA-EJ-5504-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bd30acf-01c3-4c96-a016-63e8dce66217	316ecb66-2802-4972-9bdc-f11fd7f67801	g.chr11:56185673G>T	ENST00000312253.1	-	1	35	c.36C>A	c.(34-36)ttC>ttA	p.F12L		NM_001004744.1	NP_001004744.1	Q8NH85	OR5R1_HUMAN	olfactory receptor, family 5, subfamily R, member 1	12						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.F12L(1)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(17)|ovary(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)	37	Esophageal squamous(21;0.00448)					CTTTCAGAATGAATACAGTGA	0.398																																						ENST00000312253.1																			1	Substitution - Missense(1)	p.F12L(1)	prostate(1)	NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(17)|ovary(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)	37						c.(34-36)ttC>ttA		olfactory receptor, family 5, subfamily R, member 1							84	95	91					11																	56185673		2201	4295	6496	SO:0001583	missense	219479				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56185673G>T	AB065504	CCDS31530.1	11q11	2012-08-09		2004-03-10	ENSG00000174942	ENSG00000174942		"GPCR / Class A : Olfactory receptors"	14841	protein-coding gene	gene with protein product				OR5R1P			Standard	NM_001004744		Approved		uc010rji.2	Q8NH85	OTTHUMG00000154219	ENST00000312253.1:c.36C>A	11.37:g.56185673G>T	ENSP00000308595:p.Phe12Leu						p.F12L	NM_001004744.1	NP_001004744.1	Q8NH85	OR5R1_HUMAN			1	35	-	Esophageal squamous(21;0.00448)		12						Missense_Mutation	SNP	ENST00000312253.1	37	c.36C>A	CCDS31530.1	.	.	.	.	.	.	.	.	.	.	G	12.29	1.892618	0.33442	.	.	ENSG00000174942	ENST00000312253	T	0.04454	3.62	5.6	-1.65	0.08291	.	0.000000	0.34067	U	0.004298	T	0.08133	0.0203	M	0.79123	2.44	0.24039	N	0.996088	B	0.25667	0.131	B	0.27380	0.079	T	0.28744	-1.0034	10	0.87932	D	0	-21.0836	12.4531	0.55688	0.5064:0.0:0.4936:0.0	.	12	Q8NH85	OR5R1_HUMAN	L	12	ENSP00000308595:F12L	ENSP00000308595:F12L	F	-	3	2	OR5R1	55942249	0.177000	0.23109	0.973000	0.42090	0.290000	0.27261	-0.380000	0.07427	-0.173000	0.10761	0.297000	0.19635	TTC		0.398	OR5R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334444.1	NM_001004744		6	235	1	0	2.0095e-06	1	2.09687e-06	6	235					T	56185673	G	T	56185673	3	4	53	1	0	0	0	0	1	0	0	0	11180	1281	45	5	940	5	OR5R1	11	56185673	Missense_Mutation	SNP	G	TCGA-EJ-5504-01A-01D-1576-08		56185673	78820843	40	2789											
HRASLS5	117245	broad.mit.edu	37	chr11	63235886	63235886	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atagatggcccagtgctcatAgccaattcgaaaaatctcaa	15	9	7	10	1	2	1	2	0	1	1	4	2	2	1	2	1	2	1	2	1	6	3			TCGA-EJ-5504-01A-01D-1576-08	TCGA-EJ-5504-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bd30acf-01c3-4c96-a016-63e8dce66217	316ecb66-2802-4972-9bdc-f11fd7f67801	g.chr11:63235886A>T	ENST00000301790.4	-	4	586	c.427T>A	c.(427-429)Tat>Aat	p.Y143N	HRASLS5_ENST00000539221.1_Missense_Mutation_p.Y143N|HRASLS5_ENST00000540857.1_Missense_Mutation_p.Y133N			Q96KN8	HRSL5_HUMAN	HRAS-like suppressor family, member 5	143							transferase activity, transferring acyl groups (GO:0016746)	p.Y143N(1)		endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|urinary_tract(1)	14						CAGTGCTCATAGCCAATTCGA	0.418																																						ENST00000540857.1																			1	Substitution - Missense(1)	p.Y143N(1)	prostate(1)	endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|urinary_tract(1)	14						c.(397-399)Tat>Aat		HRAS-like suppressor family, member 5							144	140	141					11																	63235886		2201	4298	6499	SO:0001583	missense	117245							g.chr11:63235886A>T	AJ416558	CCDS8044.1, CCDS53646.1, CCDS53647.1	11q13.2	2006-08-16			ENSG00000168004	ENSG00000168004			24978	protein-coding gene	gene with protein product		611474					Standard	NM_001146729		Approved	HRLP5	uc001nwy.2	Q96KN8	OTTHUMG00000167806	ENST00000301790.4:c.427T>A	11.37:g.63235886A>T	ENSP00000301790:p.Tyr143Asn					HRASLS5_ENST00000301790.4_Missense_Mutation_p.Y143N|HRASLS5_ENST00000539221.1_Missense_Mutation_p.Y143N	p.Y133N	NM_001146728.1|NM_001146729.1|NM_054108.3	NP_001140200.1|NP_001140201.1|NP_473449.1	Q96KN8	HRSL5_HUMAN			4	529	-			143					B7X6T1|F5GZ87|F5H4Y9	Missense_Mutation	SNP	ENST00000301790.4	37	c.397T>A	CCDS8044.1	.	.	.	.	.	.	.	.	.	.	A	19.76	3.888169	0.72524	.	.	ENSG00000168004	ENST00000540857;ENST00000539221;ENST00000301790	T;T;T	0.35421	1.31;1.31;1.31	4.37	4.37	0.52481	.	0.000000	0.85682	D	0.000000	T	0.63920	0.2552	M	0.92026	3.265	0.40815	D	0.983454	D;P;P	0.67145	0.996;0.897;0.916	D;P;D	0.71184	0.972;0.898;0.938	T	0.71991	-0.4425	10	0.72032	D	0.01	-13.7223	10.2625	0.43436	1.0:0.0:0.0:0.0	.	143;133;143	F5GZ87;F5H4Y9;Q96KN8	.;.;HRSL5_HUMAN	N	133;143;143	ENSP00000444809:Y133N;ENSP00000443873:Y143N;ENSP00000301790:Y143N	ENSP00000301790:Y143N	Y	-	1	0	HRASLS5	62992462	0.997000	0.39634	1.000000	0.80357	0.995000	0.86356	2.511000	0.45476	2.192000	0.70111	0.459000	0.35465	TAT		0.418	HRASLS5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396375.1	NM_054108		7	180	0	0	0	1	0	7	180					T	63235886	A	T	63235886	3	4	53	1	0	0	0	0	1	0	0	0	7351	420	15	5	424	5	HRASLS5	11	63235886	Missense_Mutation	SNP	A	TCGA-EJ-5504-01A-01D-1576-08	7050213	63235886	71770630	41	2790											
SLCO2B1	11309	broad.mit.edu	37	chr11	74883495	74883495	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgggtttcctcatcgctgccGgtgcagtggccctggctgcc	2	11	14	14	2	1	0	1	0	0	0	3	0	2	0	4	4	3	4	4	4	0	1	rs150167315	byFrequency	TCGA-EJ-5504-01A-01D-1576-08	TCGA-EJ-5504-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bd30acf-01c3-4c96-a016-63e8dce66217	316ecb66-2802-4972-9bdc-f11fd7f67801	g.chr11:74883495G>A	ENST00000289575.5	+	7	1248	c.853G>A	c.(853-855)Ggt>Agt	p.G285S	SLCO2B1_ENST00000532236.1_Missense_Mutation_p.G169S|SLCO2B1_ENST00000341411.4_Missense_Mutation_p.G58S|SLCO2B1_ENST00000428359.2_Missense_Mutation_p.G263S|SLCO2B1_ENST00000531756.1_Missense_Mutation_p.G30S|SLCO2B1_ENST00000526660.1_3'UTR|SLCO2B1_ENST00000525650.1_Missense_Mutation_p.G141S|SLCO2B1_ENST00000454962.2_Missense_Mutation_p.G58S	NM_007256.4	NP_009187	O94956	SO2B1_HUMAN	solute carrier organic anion transporter family, member 2B1	285					liver development (GO:0001889)|sodium-independent icosanoid transport (GO:0071718)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bile acid transmembrane transporter activity (GO:0015125)|organic anion transmembrane transporter activity (GO:0008514)|sodium-independent organic anion transmembrane transporter activity (GO:0015347)	p.G285S(1)		breast(2)|endometrium(1)|large_intestine(7)|lung(20)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	39					Acetic acid(DB03166)|Alprostadil(DB00770)|Atorvastatin(DB01076)|Benzylpenicillin(DB01053)|Conjugated Estrogens(DB00286)|Digoxin(DB00390)|Dinoprostone(DB00917)|Ergoloid mesylate(DB01049)|Estradiol(DB00783)|Estrone(DB00655)|Fexofenadine(DB00950)|Fluvastatin(DB01095)|Glyburide(DB01016)|Ibuprofen(DB01050)|Iloprost(DB01088)|Latanoprost(DB00654)|Montelukast(DB00471)|Niacin(DB00627)|Pitavastatin(DB08860)|Pravastatin(DB00175)|Rifampicin(DB01045)|Rosuvastatin(DB01098)|Salicylic acid(DB00936)|Tolbutamide(DB01124)	CATCGCTGCCGGTGCAGTGGC	0.562													G|||	12	0.00239617	0	0	5008	,	,		19604	0		0	False		,,,				2504	0.0123					ENST00000289575.5																			1	Substitution - Missense(1)	p.G285S(1)	prostate(1)	breast(2)|endometrium(1)|large_intestine(7)|lung(20)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	39						c.(853-855)Ggt>Agt		solute carrier organic anion transporter family, member 2B1	Ergoloid mesylate(DB01049)	G	SER/GLY,SER/GLY,SER/GLY	4,4396	8.1+/-20.4	0,4,2196	92	80	84		787,421,853	1.7	0	11	dbSNP_134	84	0,8586		0,0,4293	yes	missense,missense,missense	SLCO2B1	NM_001145211.2,NM_001145212.2,NM_007256.4	56,56,56	0,4,6489	AA,AG,GG		0.0,0.0909,0.0308	benign,benign,benign	263/688,141/566,285/710	74883495	4,12982	2200	4293	6493	SO:0001583	missense	11309				sodium-independent organic anion transport	integral to membrane	sodium-independent organic anion transmembrane transporter activity	g.chr11:74883495G>A	AB026256	CCDS8235.1, CCDS44683.1, CCDS53679.1	11q13	2013-05-22	2003-11-25	2003-11-26				"Solute carriers"	10962	protein-coding gene	gene with protein product		604988	"solute carrier family 21 (organic anion transporter), member 9"	SLC21A9			Standard	NM_007256		Approved	OATP-B, OATP2B1	uc001owb.3	O94956		ENST00000289575.5:c.853G>A	11.37:g.74883495G>A	ENSP00000289575:p.Gly285Ser					SLCO2B1_ENST00000526660.1_3'UTR|SLCO2B1_ENST00000454962.2_Missense_Mutation_p.G58S|SLCO2B1_ENST00000532236.1_Missense_Mutation_p.G169S|SLCO2B1_ENST00000531756.1_Missense_Mutation_p.G30S|SLCO2B1_ENST00000525650.1_Missense_Mutation_p.G141S|SLCO2B1_ENST00000428359.2_Missense_Mutation_p.G263S|SLCO2B1_ENST00000341411.4_Missense_Mutation_p.G58S	p.G285S	NM_007256.4	NP_009187.1	O94956	SO2B1_HUMAN			7	1248	+			285					A8K2G9|B4DGA9|B4DTB0|E7ERN5|E9PPU8|Q9H2Z0|Q9UFU1	Missense_Mutation	SNP	ENST00000289575.5	37	c.853G>A	CCDS8235.1	.	.	.	.	.	.	.	.	.	.	G	7.598	0.672255	0.14776	9.09E-4	0.0	ENSG00000137491	ENST00000289575;ENST00000341411;ENST00000532236;ENST00000531756;ENST00000525650;ENST00000454962;ENST00000428359	T;T;T;T;T;T;T	0.81247	0.26;-1.47;-1.47;-1.47;-1.47;-1.47;0.26	5.65	1.66	0.24008	Major facilitator superfamily domain, general substrate transporter (1);	0.406164	0.30347	N	0.009837	T	0.62245	0.2412	L	0.31578	0.945	0.19575	N	0.999962	P;P;P;B	0.41366	0.58;0.747;0.525;0.368	B;B;B;B	0.36134	0.107;0.218;0.104;0.05	T	0.52779	-0.8530	10	0.23302	T	0.38	.	5.5496	0.17083	0.1511:0.0:0.5675:0.2814	.	141;30;58;285	E9PPU8;E9PPJ4;O94956-2;O94956	.;.;.;SO2B1_HUMAN	S	285;58;169;30;141;58;263	ENSP00000289575:G285S;ENSP00000341286:G58S;ENSP00000434112:G169S;ENSP00000432650:G30S;ENSP00000436324:G141S;ENSP00000389653:G58S;ENSP00000388912:G263S	ENSP00000289575:G285S	G	+	1	0	SLCO2B1	74561143	0.755000	0.28372	0.001000	0.08648	0.003000	0.03518	1.004000	0.29822	0.157000	0.19338	-0.181000	0.13052	GGT		0.562	SLCO2B1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000383933.1	NM_007256		4	118	0	0	0	1	0	4	118					A	74883495	G	A	74883495	3	1	53	1	0	0	0	0	1	0	0	0	14727	1116	39	2	879	2	SLCO2B1	11	74883495	Missense_Mutation	SNP	G	TCGA-EJ-5504-01A-01D-1576-08	11647609	74883495	60123021	42	2791											
MMP12	4321	broad.mit.edu	37	chr11	102742648	102742648	+	RNA	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ccggattgcgtagtcaacatCctcacggttcatgtcaggtg	8	11	11	11	3	4	0	4	0	0	0	5	1	5	1	2	3	2	2	2	3	2	3	rs370884462		TCGA-EJ-5504-01A-01D-1576-08	TCGA-EJ-5504-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bd30acf-01c3-4c96-a016-63e8dce66217	316ecb66-2802-4972-9bdc-f11fd7f67801	g.chr11:102742648C>A	ENST00000532855.1	-	0	481							P39900	MMP12_HUMAN	matrix metallopeptidase 12 (macrophage elastase)						collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of epithelial cell proliferation involved in wound healing (GO:0060054)|proteolysis (GO:0006508)|wound healing, spreading of epidermal cells (GO:0035313)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|endopeptidase activity (GO:0004175)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.D129Y(1)		autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	26		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.014)	Acetohydroxamic Acid(DB00551)|Marimastat(DB00786)	TAGTCAACATCCTCACGGTTC	0.393																																						ENST00000532855.1																			1	Substitution - Missense(1)	p.D129Y(1)	prostate(1)	autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	26								matrix metallopeptidase 12 (macrophage elastase)	Acetohydroxamic Acid(DB00551)	C	TYR/ASP	0,3846		0,0,1923	76	73	74		385	5.8	1	11		74	1,8283		0,1,4141	no	missense	MMP12	NM_002426.4	160	0,1,6064	AA,AC,CC		0.0121,0.0,0.0082	probably-damaging	129/471	102742648	1,12129	1923	4142	6065			4321				positive regulation of epithelial cell proliferation involved in wound healing|proteolysis|wound healing, spreading of epidermal cells	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding	g.chr11:102742648C>A	L23808	CCDS73375.1	11q22.3	2009-02-26	2005-08-08			ENSG00000262406			7158	protein-coding gene	gene with protein product		601046	"matrix metalloproteinase 12 (macrophage elastase)"				Standard	NM_002426		Approved	HME	uc001phk.3	P39900			11.37:g.102742648C>A										P39900	MMP12_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.014)	0	481	-		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)						B2R9X8|B7ZLF6|Q2M1L9	RNA	SNP	ENST00000532855.1	37																																																																																						0.393	MMP12-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000386646.1	NM_002426		10	44	1	0	1.58986e-06	1	1.67722e-06	10	44					A	102742648	C	A	102742648	1	1	53	0	1	0	0	0	0	0	0	0	9651	855	30	5		5	MMP12	11	102742648	RNA	SNP	C	TCGA-EJ-5504-01A-01D-1576-08	27859153	102742648	32263868	43	2792											
HINFP	25988	broad.mit.edu	37	chr11	119002676	119002676	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ttcttagatcacatccgtcgCcagacctcattggatcgtaa	10	12	7	12	3	3	2	2	0	1	2	6	3	4	3	3	1	0	1	3	1	2	4			TCGA-EJ-5504-01A-01D-1576-08	TCGA-EJ-5504-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bd30acf-01c3-4c96-a016-63e8dce66217	316ecb66-2802-4972-9bdc-f11fd7f67801	g.chr11:119002676C>G	ENST00000350777.2	+	5	723	c.660C>G	c.(658-660)cgC>cgG	p.R220R	HINFP_ENST00000527410.1_Silent_p.R220R|HINFP_ENST00000527354.1_3'UTR	NM_001243259.1|NM_015517.4|NM_198971.2	NP_001230188.1|NP_056332.2|NP_945322.1	Q9BQA5	HINFP_HUMAN	histone H4 transcription factor	220					DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|establishment of protein localization (GO:0045184)|G1/S transition of mitotic cell cycle (GO:0000082)|in utero embryonic development (GO:0001701)|myoblast differentiation (GO:0045445)|negative regulation of gene expression (GO:0010629)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of gene expression (GO:0010468)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	Cajal body (GO:0015030)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone binding (GO:0042393)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)	p.R220R(2)		endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						ACATCCGTCGCCAGACCTCAT	0.557																																						ENST00000350777.2																			2	Substitution - coding silent(2)	p.R220R(2)	prostate(2)	endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						c.(658-660)cgC>cgG		histone H4 transcription factor							111	107	108					11																	119002676		2200	4295	6495	SO:0001819	synonymous_variant	25988				DNA damage checkpoint|DNA repair|establishment of protein localization|in utero embryonic development|myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of transcription involved in G1/S phase of mitotic cell cycle	Cajal body	enzyme binding|histone binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription regulatory region DNA binding|zinc ion binding	g.chr11:119002676C>G	AL080201	CCDS8414.1, CCDS58188.1	11q23.3	2013-01-08	2009-01-22	2009-01-22	ENSG00000172273	ENSG00000172273		"Zinc fingers, C2H2-type"	17850	protein-coding gene	gene with protein product	"histone nuclear factor P"	607099	"MBD2-interacting zinc finger 1", "MBD2-interacting zinc finger"	MIZF		11553631	Standard	NM_015517		Approved	DKFZP434F162, HiNF-P, ZNF743	uc001pvq.3	Q9BQA5	OTTHUMG00000166168	ENST00000350777.2:c.660C>G	11.37:g.119002676C>G						HINFP_ENST00000527354.1_3'UTR|HINFP_ENST00000527410.1_Silent_p.R220R	p.R220R	NM_001243259.1|NM_015517.4|NM_198971.2	NP_001230188.1|NP_056332.2|NP_945322.1	Q9BQA5	HINFP_HUMAN			5	723	+			220					B3KPH6|B4DWB4|E9PQF4|Q96E65|Q9Y4M7	Silent	SNP	ENST00000350777.2	37	c.660C>G	CCDS8414.1																																																																																				0.557	HINFP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388201.2	NM_015517		21	120	0	0	0	1	0	21	120					G	119002676	C	G	119002676	2	3	53	1	0	0	0	0	0	0	0	1	7110	726	26	5		5	HINFP	11	119002676	Silent	SNP	C	TCGA-EJ-5504-01A-01D-1576-08	16260028	119002676	16003840	44	2793											
OR10P1	121130	broad.mit.edu	37	chr12	56030939	56030939	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctggccaatctgggctccccGcatccccaggccatctcttt	5	10	8	18	1	2	0	0	0	2	0	5	0	4	0	6	3	0	2	6	3	1	1	rs369935856		TCGA-EJ-5504-01A-01D-1576-08	TCGA-EJ-5504-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bd30acf-01c3-4c96-a016-63e8dce66217	316ecb66-2802-4972-9bdc-f11fd7f67801	g.chr12:56030939G>A	ENST00000309675.2	+	1	296	c.264G>A	c.(262-264)ccG>ccA	p.P88P	RP11-644F5.16_ENST00000556606.1_RNA	NM_206899.1	NP_996782.1	Q8NGE3	O10P1_HUMAN	olfactory receptor, family 10, subfamily P, member 1	88			P -> L (in dbSNP:rs10876838).			integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.P88P(1)		autonomic_ganglia(1)|central_nervous_system(2)|endometrium(4)|large_intestine(3)|lung(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	26						TGGGCTCCCCGCATCCCCAGG	0.602																																						ENST00000309675.2																			1	Substitution - coding silent(1)	p.P88P(1)	prostate(1)	autonomic_ganglia(1)|central_nervous_system(2)|endometrium(4)|large_intestine(3)|lung(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	26						c.(262-264)ccG>ccA		olfactory receptor, family 10, subfamily P, member 1		G		1,4405	2.1+/-5.4	0,1,2202	80	71	74		264	-8.6	0	12		74	0,8600		0,0,4300	no	coding-synonymous	OR10P1	NM_206899.1		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		88/314	56030939	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	121130				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr12:56030939G>A	BK004259	CCDS31828.1	12q13.13	2012-08-09		2004-03-10		ENSG00000175398		"GPCR / Class A : Olfactory receptors"	15378	protein-coding gene	gene with protein product				OR10P1P, OR10P2P, OR10P3P			Standard	NM_206899		Approved	OST701	uc010spq.2	Q8NGE3	OTTHUMG00000169961	ENST00000309675.2:c.264G>A	12.37:g.56030939G>A							p.P88P	NM_206899.1	NP_996782.1	Q8NGE3	O10P1_HUMAN			1	296	+			88		P -> L (in dbSNP:rs10876838).			B9EGY4	Silent	SNP	ENST00000309675.2	37	c.264G>A	CCDS31828.1																																																																																				0.602	OR10P1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406680.1			29	148	0	0	0	1	0	29	148					A	56030939	G	A	56030939	2	1	53	1	0	0	0	0	0	0	0	1	10915	1074	38	1		1	OR10P1	12	56030939	Silent	SNP	G	TCGA-EJ-5504-01A-01D-1576-08		56030939	77820956	45	2794											
SPRYD4	283377	broad.mit.edu	37	chr12	56863081	56863081	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	catgtcccgggatagctgcaTtggtgttgatgatcgttcct	6	14	12	9	2	0	2	0	2	0	0	3	3	2	3	2	2	2	4	2	2	1	4	rs200746514	byFrequency	TCGA-EJ-5504-01A-01D-1576-08	TCGA-EJ-5504-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bd30acf-01c3-4c96-a016-63e8dce66217	316ecb66-2802-4972-9bdc-f11fd7f67801	g.chr12:56863081T>C	ENST00000338146.5	+	2	419	c.344T>C	c.(343-345)aTt>aCt	p.I115T	MIP_ENST00000555551.1_5'Flank	NM_207344.3	NP_997227	Q8WW59	SPRY4_HUMAN	SPRY domain containing 4	115	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.					mitochondrion (GO:0005739)|nucleus (GO:0005634)		p.I115T(1)		kidney(1)|large_intestine(3)|lung(1)|ovary(1)|prostate(1)	7						GATAGCTGCATTGGTGTTGAT	0.567													T|||	8	0.00159744	0	0	5008	,	,		19794	0.0079		0	False		,,,				2504	0					ENST00000338146.5																			1	Substitution - Missense(1)	p.I115T(1)	prostate(1)	kidney(1)|large_intestine(3)|lung(1)|ovary(1)|prostate(1)	7						c.(343-345)aTt>aCt		SPRY domain containing 4							175	164	167					12																	56863081		2203	4300	6503	SO:0001583	missense	283377					nucleus		g.chr12:56863081T>C	AL832247	CCDS8920.1	12q13.3	2006-03-09				ENSG00000176422			27468	protein-coding gene	gene with protein product							Standard	NM_207344		Approved	DKFZp686N0877	uc001sli.4	Q8WW59		ENST00000338146.5:c.344T>C	12.37:g.56863081T>C	ENSP00000338034:p.Ile115Thr						p.I115T	NM_207344.3	NP_997227.1	Q8WW59	SPRY4_HUMAN			2	419	+			115			B30.2/SPRY.		A8K7A5	Missense_Mutation	SNP	ENST00000338146.5	37	c.344T>C	CCDS8920.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	T	22.3	4.272521	0.80580	.	.	ENSG00000176422	ENST00000338146;ENST00000543121	T	0.61742	0.08	5.46	5.46	0.80206	Concanavalin A-like lectin/glucanase (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.102727	0.64402	D	0.000003	T	0.64516	0.2605	M	0.71036	2.16	0.41368	D	0.987471	P;P	0.40578	0.549;0.722	B;P	0.45276	0.341;0.475	T	0.70285	-0.4914	10	0.87932	D	0	-14.605	14.8255	0.70107	0.0:0.0:0.0:1.0	.	37;115	B4DUC9;Q8WW59	.;SPRY4_HUMAN	T	115;37	ENSP00000338034:I115T	ENSP00000338034:I115T	I	+	2	0	SPRYD4	55149348	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.035000	0.76517	2.208000	0.71279	0.459000	0.35465	ATT		0.567	SPRYD4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_207344		52	256	0	0	0	1	0	52	256					C	56863081	T	C	56863081	3	2	53	1	0	0	0	0	1	0	0	0	15109	1493	52	4	350	4	SPRYD4	12	56863081	Missense_Mutation	SNP	T	TCGA-EJ-5504-01A-01D-1576-08	832142	56863081	76988814	46	2795											
GPR133	283383	broad.mit.edu	37	chr12	131498747	131498747	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttccgtctcttcccaaggatCgcggaggccatgcatcacca	8	9	9	15	3	2	0	1	0	1	0	6	2	4	2	4	3	1	1	4	3	1	2	rs144882598	byFrequency	TCGA-EJ-5504-01A-01D-1576-08	TCGA-EJ-5504-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bd30acf-01c3-4c96-a016-63e8dce66217	316ecb66-2802-4972-9bdc-f11fd7f67801	g.chr12:131498747C>T	ENST00000261654.5	+	13	1894	c.1335C>T	c.(1333-1335)atC>atT	p.I445I	GPR133_ENST00000535015.1_Silent_p.I477I|GPR133_ENST00000376682.4_Silent_p.I131I	NM_198827.3	NP_942122.2	Q6QNK2	GP133_HUMAN	G protein-coupled receptor 133	445					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.I445I(1)		NS(2)|breast(2)|endometrium(6)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|pancreas(6)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	67	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)		TCCCAAGGATCGCGGAGGCCA	0.577													c|||	3	0.000599042	0.0023	0	5008	,	,		18560	0		0	False		,,,				2504	0					ENST00000261654.5																			1	Substitution - coding silent(1)	p.I445I(1)	prostate(1)	NS(2)|breast(2)|endometrium(6)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|pancreas(6)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	67						c.(1333-1335)atC>atT		G protein-coupled receptor 133				16,4390	23.3+/-48.9	0,16,2187	91	80	84		1335	-7.2	0	12	dbSNP_134	84	0,8600		0,0,4300	no	coding-synonymous	GPR133	NM_198827.3		0,16,6487	TT,TC,CC		0.0,0.3631,0.123		445/875	131498747	16,12990	2203	4300	6503	SO:0001819	synonymous_variant	283383				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr12:131498747C>T	AY278561	CCDS9272.1	12q24.33	2014-08-08			ENSG00000111452	ENSG00000111452		"-", "GPCR / Class B : Orphans"	19893	protein-coding gene	gene with protein product		613639					Standard	NM_198827		Approved	DKFZp434B1272, PGR25	uc001uit.4	Q6QNK2	OTTHUMG00000168339	ENST00000261654.5:c.1335C>T	12.37:g.131498747C>T						GPR133_ENST00000535015.1_Silent_p.I477I|GPR133_ENST00000376682.4_Silent_p.I131I	p.I445I	NM_198827.3	NP_942122.2	Q6QNK2	GP133_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)	13	1894	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)		445					B2CKK9|B7ZLF7|Q2M1L3|Q6ZMQ1|Q7Z7M2|Q86SM4	Silent	SNP	ENST00000261654.5	37	c.1335C>T	CCDS9272.1																																																																																				0.577	GPR133-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399356.1	NM_198827		19	106	0	0	0	1	0	19	106					T	131498747	C	T	131498747	2	4	53	1	0	0	0	0	0	0	0	1	6643	874	31	2		2	GPR133	12	131498747	Silent	SNP	C	TCGA-EJ-5504-01A-01D-1576-08	74635666	131498747	2353148	47	2796											
MYH6	4624	broad.mit.edu	37	chr14	23862693	23862693	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcagcttagcgatgatttcaTccagcccagccatctcctct	8	12	6	15	1	4	1	2	1	2	0	6	2	5	1	4	0	4	1	4	0	1	2			TCGA-EJ-5504-01A-01D-1576-08	TCGA-EJ-5504-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bd30acf-01c3-4c96-a016-63e8dce66217	316ecb66-2802-4972-9bdc-f11fd7f67801	g.chr14:23862693T>C	ENST00000356287.3	-	22	2992	c.2963A>G	c.(2962-2964)gAt>gGt	p.D988G	MYH6_ENST00000405093.3_Missense_Mutation_p.D988G			P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	988					adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|atrial cardiac muscle tissue morphogenesis (GO:0055009)|BMP signaling pathway (GO:0030509)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle fiber development (GO:0048739)|in utero embryonic development (GO:0001701)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|myofibril assembly (GO:0030239)|regulation of ATPase activity (GO:0043462)|regulation of blood pressure (GO:0008217)|regulation of heart contraction (GO:0008016)|regulation of heart growth (GO:0060420)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|sarcomere organization (GO:0045214)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visceral muscle development (GO:0007522)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin complex (GO:0016459)|myosin filament (GO:0032982)|nucleus (GO:0005634)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|protein kinase binding (GO:0019901)	p.D988G(1)		breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		GATGATTTCATCCAGCCCAGC	0.527																																						ENST00000405093.3																			1	Substitution - Missense(1)	p.D988G(1)	prostate(1)	breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119						c.(2962-2964)gAt>gGt		myosin, heavy chain 6, cardiac muscle, alpha							187	180	183					14																	23862693		2203	4300	6503	SO:0001583	missense	4624				adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle	g.chr14:23862693T>C	D00943	CCDS9600.1	14q11.2-q13	2014-09-17	2008-08-01		ENSG00000197616	ENSG00000197616		"Myosins / Myosin superfamily : Class II"	7576	protein-coding gene	gene with protein product	"cardiomyopathy, hypertrophic 1"	160710	"myosin, heavy polypeptide 6, cardiac muscle, alpha (cardiomyopathy, hypertrophic 1)"			2144212	Standard	NM_002471		Approved		uc001wjv.3	P13533	OTTHUMG00000028753	ENST00000356287.3:c.2963A>G	14.37:g.23862693T>C	ENSP00000348634:p.Asp988Gly					MYH6_ENST00000356287.3_Missense_Mutation_p.D988G	p.D988G	NM_002471.3	NP_002462.2	P13533	MYH6_HUMAN		GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)	23	3033	-	all_cancers(95;2.54e-05)		988					A2RTX1|D9YZU2|Q13943|Q14906|Q14907	Missense_Mutation	SNP	ENST00000356287.3	37	c.2963A>G	CCDS9600.1	.	.	.	.	.	.	.	.	.	.	t	18.99	3.739146	0.69304	.	.	ENSG00000197616	ENST00000405093;ENST00000356287	D;D	0.90133	-2.62;-2.62	5.12	5.12	0.69794	.	.	.	.	.	D	0.93874	0.8040	M	0.87547	2.89	0.80722	D	1	P	0.48089	0.905	P	0.50708	0.648	D	0.94690	0.7873	9	0.62326	D	0.03	.	15.2119	0.73230	0.0:0.0:0.0:1.0	.	988	P13533	MYH6_HUMAN	G	988	ENSP00000386041:D988G;ENSP00000348634:D988G	ENSP00000348634:D988G	D	-	2	0	MYH6	22932533	1.000000	0.71417	0.982000	0.44146	0.519000	0.34347	6.031000	0.70911	2.067000	0.61834	0.528000	0.53228	GAT		0.527	MYH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071796.3			61	253	0	0	0	1	0	61	253					C	23862693	T	C	23862693	3	2	53	1	0	0	0	0	1	0	0	0	10038	1435	50	4	2924	4	MYH6	14	23862693	Missense_Mutation	SNP	T	TCGA-EJ-5504-01A-01D-1576-08		23862693	83486847	48	2797											
C14orf178	283579	broad.mit.edu	37	chr14	78227450	78227450	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatcgaggaccccaatcaacAacccacctggtgagcgccat	12	6	8	15	2	1	1	1	1	0	0	2	3	1	2	5	2	3	0	5	2	4	1			TCGA-EJ-5504-01A-01D-1576-08	TCGA-EJ-5504-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bd30acf-01c3-4c96-a016-63e8dce66217	316ecb66-2802-4972-9bdc-f11fd7f67801	g.chr14:78227450A>G	ENST00000355883.3	+	1	274	c.65A>G	c.(64-66)cAa>cGa	p.Q22R	SNW1_ENST00000555761.1_Intron|C14orf178_ENST00000439131.2_5'UTR|SNW1_ENST00000554775.1_Intron|C14orf178_ENST00000557011.1_Missense_Mutation_p.Q22R|SNW1_ENST00000261531.7_Intron|C14orf178_ENST00000556047.1_Missense_Mutation_p.Q22R	NM_174943.3	NP_777603.1	Q8N769	CN178_HUMAN	chromosome 14 open reading frame 178	22								p.Q22R(1)|p.?(1)		large_intestine(1)|lung(2)|ovary(1)|prostate(1)	5			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0273)		CCCAATCAACAACCCACCTGG	0.587																																						ENST00000355883.3																			2	Substitution - Missense(1)|Unknown(1)	p.Q22R(1)|p.?(1)	prostate(2)	large_intestine(1)|lung(2)|ovary(1)|prostate(1)	5						c.(64-66)cAa>cGa		chromosome 14 open reading frame 178							93	82	85					14																	78227450		2203	4300	6503	SO:0001583	missense	283579							g.chr14:78227450A>G	AK098842	CCDS9868.1, CCDS53906.1	14q24.3	2012-03-13			ENSG00000197734	ENSG00000197734			26385	protein-coding gene	gene with protein product						12477932	Standard	NM_001173978		Approved	FLJ25976	uc021rwv.1	Q8N769	OTTHUMG00000171528	ENST00000355883.3:c.65A>G	14.37:g.78227450A>G	ENSP00000348145:p.Gln22Arg					C14orf178_ENST00000439131.2_5'UTR|SNW1_ENST00000261531.7_Intron|SNW1_ENST00000555761.1_Intron|C14orf178_ENST00000557011.1_Missense_Mutation_p.Q22R|C14orf178_ENST00000556047.1_Missense_Mutation_p.Q22R|SNW1_ENST00000554775.1_Intron	p.Q22R	NM_174943.3	NP_777603.1	Q8N769	CN178_HUMAN	Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0273)	1	274	+			22					Q2HIX2|Q3KNR7	Missense_Mutation	SNP	ENST00000355883.3	37	c.65A>G	CCDS9868.1	.	.	.	.	.	.	.	.	.	.	A	17.10	3.303423	0.60195	.	.	ENSG00000197734	ENST00000355883;ENST00000557011;ENST00000556047	T;T	0.61040	1.41;0.14	5.31	5.31	0.75309	.	.	.	.	.	T	0.51890	0.1701	N	0.17631	0.505	0.80722	D	1	D	0.61697	0.99	P	0.57911	0.829	T	0.45175	-0.9279	9	0.08837	T	0.75	.	11.5788	0.50879	1.0:0.0:0.0:0.0	.	22	Q8N769	CN178_HUMAN	R	22	ENSP00000348145:Q22R;ENSP00000451531:Q22R	ENSP00000348145:Q22R	Q	+	2	0	C14orf178	77297203	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	1.607000	0.36836	2.234000	0.73211	0.402000	0.26972	CAA		0.587	C14orf178-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000413920.1	NM_174943		19	98	0	0	0	1	0	19	98					G	78227450	A	G	78227450	3	3	53	1	0	0	0	0	1	0	0	0	1761	130	5	4	67	4	C14orf178	14	78227450	Missense_Mutation	SNP	A	TCGA-EJ-5504-01A-01D-1576-08	54364757	78227450	29122090	49	2798											
CKB	1152	broad.mit.edu	37	chr14	103986922	103986922	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caccaggaaggtcttattgtCattgtgcctgcgggagggct	7	11	14	9	1	2	0	1	0	1	0	2	2	2	2	2	4	2	1	2	4	2	3			TCGA-EJ-5504-01A-01D-1576-08	TCGA-EJ-5504-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bd30acf-01c3-4c96-a016-63e8dce66217	316ecb66-2802-4972-9bdc-f11fd7f67801	g.chr14:103986922C>A	ENST00000348956.2	-	6	1018	c.661G>T	c.(661-663)Gac>Tac	p.D221Y		NM_001823.4	NP_001814.2	P12277	KCRB_HUMAN	creatine kinase, brain	221	Phosphagen kinase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00843}.				cellular chloride ion homeostasis (GO:0030644)|cellular nitrogen compound metabolic process (GO:0034641)|creatine metabolic process (GO:0006600)|small molecule metabolic process (GO:0044281)|substantia nigra development (GO:0021762)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|creatine kinase activity (GO:0004111)	p.D221Y(1)		lung(2)|prostate(1)	3		Melanoma(154;0.155)	Epithelial(46;0.14)		Creatine(DB00148)	GTCTTATTGTCATTGTGCCTG	0.597																																					Esophageal Squamous(186;2492 2823 49929 50127)	ENST00000348956.2																			1	Substitution - Missense(1)	p.D221Y(1)	prostate(1)	lung(2)|prostate(1)	3						c.(661-663)Gac>Tac		creatine kinase, brain	Creatine(DB00148)						61	48	53					14																	103986922		2198	4300	6498	SO:0001583	missense	1152				creatine metabolic process	cytosol	ATP binding|creatine kinase activity	g.chr14:103986922C>A		CCDS9981.1	14q32.32	2012-10-02			ENSG00000166165	ENSG00000166165	2.7.3.2		1991	protein-coding gene	gene with protein product		123280		CKBB			Standard	NM_001823		Approved		uc001ynf.2	P12277	OTTHUMG00000171786	ENST00000348956.2:c.661G>T	14.37:g.103986922C>A	ENSP00000299198:p.Asp221Tyr						p.D221Y	NM_001823.4	NP_001814.2	P12277	KCRB_HUMAN	Epithelial(46;0.14)		6	1018	-		Melanoma(154;0.155)	221			Phosphagen kinase C-terminal.		A8K236|B2R5R4|Q2LE07|Q6FG40|Q9UC66	Missense_Mutation	SNP	ENST00000348956.2	37	c.661G>T	CCDS9981.1	.	.	.	.	.	.	.	.	.	.	C	26.4	4.733631	0.89482	.	.	ENSG00000166165	ENST00000348956;ENST00000428256;ENST00000553610	T;T	0.25579	1.79;1.79	4.6	4.6	0.57074	ATP:guanido phosphotransferase, catalytic domain (2);Glutamine synthetase/guanido kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.62159	0.2405	M	0.93328	3.405	0.80722	D	1	D	0.76494	0.999	D	0.78314	0.991	T	0.74203	-0.3741	10	0.56958	D	0.05	-3.3675	17.4506	0.87591	0.0:1.0:0.0:0.0	.	221	P12277	KCRB_HUMAN	Y	221;186;30	ENSP00000299198:D221Y;ENSP00000451426:D30Y	ENSP00000299198:D221Y	D	-	1	0	CKB	103056675	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	7.326000	0.79133	2.103000	0.63969	0.448000	0.29417	GAC		0.597	CKB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415111.1			3	33	1	0	1	1	1	3	33					A	103986922	C	A	103986922	3	1	53	1	0	0	0	0	1	0	0	0	3446	826	29	5	496	5	CKB	14	103986922	Missense_Mutation	SNP	C	TCGA-EJ-5504-01A-01D-1576-08	25759472	103986922	3362618	50	2799											
JAG2	3714	broad.mit.edu	37	chr14	105622204	105622204	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agtggcgctgtagtagttctCgtcgcagcgcacgcggatct	6	10	14	11	6	2	0	0	0	2	0	4	1	2	1	0	2	1	6	0	2	2	3			TCGA-EJ-5504-01A-01D-1576-08	TCGA-EJ-5504-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bd30acf-01c3-4c96-a016-63e8dce66217	316ecb66-2802-4972-9bdc-f11fd7f67801	g.chr14:105622204C>T	ENST00000331782.3	-	4	1001	c.598G>A	c.(598-600)Gag>Aag	p.E200K	JAG2_ENST00000347004.2_Missense_Mutation_p.E200K|RP11-44N21.4_ENST00000548203.1_RNA	NM_002226.4	NP_002217.3	Q9Y219	JAG2_HUMAN	jagged 2	200	DSL. {ECO:0000255|PROSITE- ProRule:PRU00377}.				auditory receptor cell fate commitment (GO:0009912)|cell cycle (GO:0007049)|cell differentiation (GO:0030154)|epithelial cell apoptotic process involved in palatal shelf morphogenesis (GO:1990134)|gamma-delta T cell differentiation (GO:0042492)|in utero embryonic development (GO:0001701)|morphogenesis of embryonic epithelium (GO:0016331)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|odontogenesis of dentin-containing tooth (GO:0042475)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|respiratory system process (GO:0003016)|skeletal system development (GO:0001501)|spermatogenesis (GO:0007283)|T cell differentiation (GO:0030217)|thymic T cell selection (GO:0045061)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|growth factor activity (GO:0008083)|Notch binding (GO:0005112)	p.E200K(2)		breast(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(7)|prostate(2)|skin(5)	22		all_cancers(154;0.0336)|all_epithelial(191;0.0729)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00989)|all cancers(16;0.0114)|Epithelial(46;0.0272)	Epithelial(152;0.047)|OV - Ovarian serous cystadenocarcinoma(161;0.148)|all cancers(159;0.208)		TAGTAGTTCTCGTCGCAGCGC	0.627																																						ENST00000331782.3																			2	Substitution - Missense(2)	p.E200K(2)	prostate(2)	breast(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(7)|prostate(2)|skin(5)	22						c.(598-600)Gag>Aag		jagged 2							78	54	62					14																	105622204		2197	4298	6495	SO:0001583	missense	3714				auditory receptor cell fate commitment|cell communication|cell cycle|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation|spermatogenesis|thymic T cell selection	integral to plasma membrane	calcium ion binding|growth factor activity|Notch binding	g.chr14:105622204C>T	AF020201	CCDS9998.1, CCDS9999.1	14q32	2008-08-01			ENSG00000184916	ENSG00000184916			6189	protein-coding gene	gene with protein product		602570				9315665, 10662552	Standard	NM_002226		Approved		uc001yqg.4	Q9Y219	OTTHUMG00000140172	ENST00000331782.3:c.598G>A	14.37:g.105622204C>T	ENSP00000328169:p.Glu200Lys					JAG2_ENST00000347004.2_Missense_Mutation_p.E200K|RP11-44N21.4_ENST00000548203.1_RNA	p.E200K	NM_002226.4	NP_002217.3	Q9Y219	JAG2_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.00989)|all cancers(16;0.0114)|Epithelial(46;0.0272)	Epithelial(152;0.047)|OV - Ovarian serous cystadenocarcinoma(161;0.148)|all cancers(159;0.208)	4	1001	-		all_cancers(154;0.0336)|all_epithelial(191;0.0729)|Melanoma(154;0.155)	200			DSL.		Q9UE17|Q9UE99|Q9UNK8|Q9Y6P9|Q9Y6Q0	Missense_Mutation	SNP	ENST00000331782.3	37	c.598G>A	CCDS9998.1	.	.	.	.	.	.	.	.	.	.	C	26.9	4.783382	0.90282	.	.	ENSG00000184916	ENST00000331782;ENST00000347004	T;D	0.96011	-0.66;-3.88	4.18	4.18	0.49190	Delta/Serrate/lag-2 (DSL) protein (3);	0.203298	0.41001	U	0.000975	D	0.96188	0.8757	M	0.77820	2.39	0.50632	D	0.999883	D;D	0.59357	0.982;0.985	P;P	0.51999	0.559;0.687	D	0.95605	0.8666	10	0.37606	T	0.19	.	15.476	0.75481	0.0:1.0:0.0:0.0	.	200;200	Q9Y219-2;Q9Y219	.;JAG2_HUMAN	K	200	ENSP00000328169:E200K;ENSP00000328566:E200K	ENSP00000328169:E200K	E	-	1	0	JAG2	104693249	0.984000	0.35163	0.959000	0.39883	0.929000	0.56500	3.077000	0.50089	1.864000	0.54056	0.563000	0.77884	GAG		0.627	JAG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276506.2			6	23	0	0	0	1	0	6	23					T	105622204	C	T	105622204	3	4	53	1	0	0	0	0	1	0	0	0	7935	893	31	2	3210	2	JAG2	14	105622204	Missense_Mutation	SNP	C	TCGA-EJ-5504-01A-01D-1576-08	1635282	105622204	1727336	51	2800											
IVD	3712	broad.mit.edu	37	chr15	40698128	40698128	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	agcgggcccactcgcttttgCccgtggacgatgcaatcaat	8	9	11	13	4	1	0	1	0	0	0	2	2	1	1	2	2	3	2	2	2	2	2	rs370669935		TCGA-EJ-5504-01A-01D-1576-08	TCGA-EJ-5504-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bd30acf-01c3-4c96-a016-63e8dce66217	316ecb66-2802-4972-9bdc-f11fd7f67801	g.chr15:40698128C>T	ENST00000249760.2	+	1	443	c.100C>T	c.(100-102)Ccc>Tcc	p.P34S	IVD_ENST00000490194.1_3'UTR|IVD_ENST00000487418.2_Missense_Mutation_p.P37S|IVD_ENST00000479013.2_Missense_Mutation_p.P37S	NM_002225.3	NP_002216.2	P26440	IVD_HUMAN	isovaleryl-CoA dehydrogenase	34					branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|leucine catabolic process (GO:0006552)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)	flavin adenine dinucleotide binding (GO:0050660)|isovaleryl-CoA dehydrogenase activity (GO:0008470)	p.P34S(1)|p.P37S(1)		kidney(1)|lung(5)|ovary(2)|prostate(1)	9		all_cancers(109;1.19e-18)|all_epithelial(112;1.52e-15)|Lung NSC(122;5.14e-11)|all_lung(180;1.27e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.65e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0808)	Flavin adenine dinucleotide(DB03147)	CTCGCTTTTGCCCGTGGACGA	0.672																																					GBM(31;293 617 7486 32527 34655)	ENST00000249760.2																			2	Substitution - Missense(2)	p.P34S(1)|p.P37S(1)	prostate(2)	kidney(1)|lung(5)|ovary(2)|prostate(1)	9						c.(100-102)Ccc>Tcc		isovaleryl-CoA dehydrogenase							20	21	21					15																	40698128		2201	4300	6501	SO:0001583	missense	3712				leucine catabolic process	mitochondrial matrix	flavin adenine dinucleotide binding|isovaleryl-CoA dehydrogenase activity	g.chr15:40698128C>T	AF038317	CCDS10057.1, CCDS10057.2, CCDS53930.1	15q14-q15	2010-05-11	2010-05-11		ENSG00000128928	ENSG00000128928	1.3.99.10		6186	protein-coding gene	gene with protein product		607036	"isovaleryl Coenzyme A dehydrogenase", "isovaleryl CoA dehydrogenase"			2063866	Standard	NM_002225		Approved	ACAD2	uc001zls.3	P26440	OTTHUMG00000129984	ENST00000249760.2:c.100C>T	15.37:g.40698128C>T	ENSP00000249760:p.Pro34Ser					IVD_ENST00000490194.1_3'UTR|IVD_ENST00000479013.2_Missense_Mutation_p.P37S|IVD_ENST00000487418.2_Missense_Mutation_p.P37S	p.P34S	NM_002225.3	NP_002216.2	P26440	IVD_HUMAN		GBM - Glioblastoma multiforme(113;3.65e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0808)	1	443	+		all_cancers(109;1.19e-18)|all_epithelial(112;1.52e-15)|Lung NSC(122;5.14e-11)|all_lung(180;1.27e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)	34					B2RCV5|B3KVI7|J3KR54|Q53XZ9|Q96AF6	Missense_Mutation	SNP	ENST00000249760.2	37	c.100C>T		.	.	.	.	.	.	.	.	.	.	C	11.42	1.632818	0.29068	.	.	ENSG00000128928	ENST00000249760;ENST00000479013;ENST00000487418	D;D;D	0.97752	-4.44;-4.52;-4.45	4.37	3.44	0.39384	.	0.281502	0.41294	D	0.000916	D	0.91369	0.7277	N	0.08118	0	0.58432	D	0.999993	B;B	0.18013	0.003;0.025	B;B	0.16722	0.009;0.016	D	0.86678	0.1915	10	0.40728	T	0.16	.	6.1753	0.20441	0.0:0.7098:0.1913:0.0988	.	34;37	P26440;B3KVI7	IVD_HUMAN;.	S	34;37;37	ENSP00000249760:P34S;ENSP00000417990:P37S;ENSP00000418397:P37S	ENSP00000249760:P34S	P	+	1	0	IVD	38485420	0.996000	0.38824	0.564000	0.28396	0.027000	0.11550	1.044000	0.30329	1.411000	0.46957	0.650000	0.86243	CCC		0.672	IVD-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding				3	42	0	0	0	1	0	3	42					T	40698128	C	T	40698128	3	4	53	1	0	0	0	0	1	0	0	0	7928	739	26	3	111	3	IVD	15	40698128	Missense_Mutation	SNP	C	TCGA-EJ-5504-01A-01D-1576-08		40698128	61833264	52	2801											
TMOD2	29767	broad.mit.edu	37	chr15	52058730	52058730	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcagaagaggaactgaaacAgttggaaaatgttctagatg	16	9	11	5	0	2	4	1	1	1	3	2	6	2	6	0	2	2	2	0	2	6	3			TCGA-EJ-5504-01A-01D-1576-08	TCGA-EJ-5504-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bd30acf-01c3-4c96-a016-63e8dce66217	316ecb66-2802-4972-9bdc-f11fd7f67801	g.chr15:52058730A>G	ENST00000249700.4	+	2	313	c.92A>G	c.(91-93)cAg>cGg	p.Q31R	TMOD2_ENST00000435126.2_Missense_Mutation_p.Q31R|TMOD2_ENST00000539962.2_5'UTR	NM_001142885.1|NM_014548.3	NP_001136357.1|NP_055363.1	Q9NZR1	TMOD2_HUMAN	tropomodulin 2 (neuronal)	31					learning or memory (GO:0007611)|nervous system development (GO:0007399)|neuron-neuron synaptic transmission (GO:0007270)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|growth cone (GO:0030426)	tropomyosin binding (GO:0005523)	p.Q31R(1)		cervix(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	16				all cancers(107;0.00435)		GAACTGAAACAGTTGGAAAAT	0.418																																						ENST00000249700.4																			1	Substitution - Missense(1)	p.Q31R(1)	prostate(1)	cervix(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	16						c.(91-93)cAg>cGg		tropomodulin 2 (neuronal)							146	135	138					15																	52058730		2195	4293	6488	SO:0001583	missense	29767				nervous system development	cytoplasm|cytoskeleton	actin binding|tropomyosin binding	g.chr15:52058730A>G	AF177169	CCDS10144.1, CCDS45260.1	15q21.2	2008-05-14			ENSG00000128872	ENSG00000128872			11872	protein-coding gene	gene with protein product		602928				10662549	Standard	NM_014548		Approved	NTMOD	uc002abk.3	Q9NZR1	OTTHUMG00000131805	ENST00000249700.4:c.92A>G	15.37:g.52058730A>G	ENSP00000249700:p.Gln31Arg					TMOD2_ENST00000435126.2_Missense_Mutation_p.Q31R|TMOD2_ENST00000539962.2_5'UTR	p.Q31R	NM_001142885.1|NM_014548.3	NP_001136357.1|NP_055363.1	Q9NZR1	TMOD2_HUMAN		all cancers(107;0.00435)	2	313	+			31					B4DEW6	Missense_Mutation	SNP	ENST00000249700.4	37	c.92A>G	CCDS10144.1	.	.	.	.	.	.	.	.	.	.	A	19.23	3.787879	0.70337	.	.	ENSG00000128872	ENST00000435126;ENST00000249700	T;T	0.34072	1.38;1.38	5.76	4.63	0.57726	.	0.122006	0.56097	N	0.000022	T	0.58061	0.2096	M	0.76002	2.32	0.44899	D	0.997915	D;D	0.89917	1.0;0.999	D;D	0.91635	0.999;0.998	T	0.58825	-0.7568	10	0.49607	T	0.09	-7.0087	11.5957	0.50972	0.9303:0.0:0.0697:0.0	.	31;31	Q9NZR1-2;Q9NZR1	.;TMOD2_HUMAN	R	31	ENSP00000404590:Q31R;ENSP00000249700:Q31R	ENSP00000249700:Q31R	Q	+	2	0	TMOD2	49846022	1.000000	0.71417	0.804000	0.32291	0.995000	0.86356	7.576000	0.82467	1.006000	0.39211	0.482000	0.46254	CAG		0.418	TMOD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254742.2			29	132	0	0	0	1	0	29	132					G	52058730	A	G	52058730	3	3	53	1	0	0	0	0	1	0	0	0	16231	188	7	4	94	4	TMOD2	15	52058730	Missense_Mutation	SNP	A	TCGA-EJ-5504-01A-01D-1576-08	11360602	52058730	50472662	53	2802											
ONECUT1	3175	broad.mit.edu	37	chr15	53081026	53081026	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aactccggctcctgcagccaCttccacatcctccggaaggt	8	8	8	17	2	0	0	0	0	0	0	5	1	5	1	6	3	3	2	6	3	2	1			TCGA-EJ-5504-01A-01D-1576-08	TCGA-EJ-5504-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bd30acf-01c3-4c96-a016-63e8dce66217	316ecb66-2802-4972-9bdc-f11fd7f67801	g.chr15:53081026C>A	ENST00000305901.5	-	1	1183	c.1056G>T	c.(1054-1056)aaG>aaT	p.K352N	ONECUT1_ENST00000561401.2_Intron	NM_004498.2	NP_004489.1	Q9UBC0	HNF6_HUMAN	one cut homeobox 1	352					B cell differentiation (GO:0030183)|cell fate commitment (GO:0045165)|cilium assembly (GO:0042384)|endocrine pancreas development (GO:0031018)|endoderm development (GO:0007492)|epithelial cell development (GO:0002064)|glucose metabolic process (GO:0006006)|liver development (GO:0001889)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|positive regulation of cell migration (GO:0030335)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell-matrix adhesion (GO:0001952)|regulation of transcription, DNA-templated (GO:0006355)|spleen development (GO:0048536)	nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)	p.K352N(1)		endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|prostate(2)|skin(1)	17				all cancers(107;0.0708)		CCTGCAGCCACTTCCACATCC	0.657																																						ENST00000305901.5																			1	Substitution - Missense(1)	p.K352N(1)	prostate(1)	endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|prostate(2)|skin(1)	17						c.(1054-1056)aaG>aaT		one cut homeobox 1							43	46	45					15																	53081026		2194	4293	6487	SO:0001583	missense	3175				endocrine pancreas development	nucleus	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding	g.chr15:53081026C>A	U77975	CCDS10150.1	15q21.3	2012-03-09	2007-07-16		ENSG00000169856	ENSG00000169856		"Homeoboxes / CUT class"	8138	protein-coding gene	gene with protein product		604164	"one cut domain, family member 1"	HNF6, HNF6A		8887657, 8790352	Standard	NM_004498		Approved	HNF-6	uc002aci.2	Q9UBC0	OTTHUMG00000131899	ENST00000305901.5:c.1056G>T	15.37:g.53081026C>A	ENSP00000302630:p.Lys352Asn					ONECUT1_ENST00000561401.2_Intron	p.K352N	NM_004498.2	NP_004489.1	Q9UBC0	HNF6_HUMAN		all cancers(107;0.0708)	1	1183	-			352					B2RTV4|Q99744|Q9UMR6	Missense_Mutation	SNP	ENST00000305901.5	37	c.1056G>T	CCDS10150.1	.	.	.	.	.	.	.	.	.	.	C	12.04	1.817246	0.32145	.	.	ENSG00000169856	ENST00000305901	T	0.43688	0.94	4.32	3.4	0.38934	Homeodomain protein CUT (2);Lambda repressor-like, DNA-binding (2);	0.055979	0.64402	N	0.000002	T	0.36026	0.0952	N	0.05306	-0.075	0.80722	D	1	D	0.53745	0.962	P	0.61328	0.887	T	0.16719	-1.0393	10	0.30078	T	0.28	-18.1963	10.9199	0.47158	0.0:0.9068:0.0:0.0932	.	352	Q9UBC0	HNF6_HUMAN	N	352	ENSP00000302630:K352N	ENSP00000302630:K352N	K	-	3	2	ONECUT1	50868318	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.978000	0.40598	1.018000	0.39521	0.514000	0.50259	AAG		0.657	ONECUT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254849.2			20	62	1	0	1.37878e-21	1	1.55721e-21	20	62					A	53081026	C	A	53081026	3	1	53	1	0	0	0	0	1	0	0	0	10868	564	20	5	349	5	ONECUT1	15	53081026	Missense_Mutation	SNP	C	TCGA-EJ-5504-01A-01D-1576-08	1022296	53081026	49450366	54	2803											
CLDN9	9080	broad.mit.edu	37	chr16	3063524	3063524	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagggcctgtggatgtcctGcgtggtgcagagcacgggcc	5	7	19	10	2	0	1	0	0	0	1	1	3	1	3	3	5	3	2	3	5	0	0			TCGA-EJ-5504-01A-01D-1576-08	TCGA-EJ-5504-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bd30acf-01c3-4c96-a016-63e8dce66217	316ecb66-2802-4972-9bdc-f11fd7f67801	g.chr16:3063524G>C	ENST00000445369.2	+	1	1068	c.161G>C	c.(160-162)tGc>tCc	p.C54S		NM_020982.3	NP_066192.1	O95484	CLD9_HUMAN	claudin 9	54					calcium-independent cell-cell adhesion (GO:0016338)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|tight junction assembly (GO:0070830)|viral process (GO:0016032)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	identical protein binding (GO:0042802)|structural molecule activity (GO:0005198)	p.C54S(1)		endometrium(2)|large_intestine(1)|lung(5)|prostate(2)	10						TGGATGTCCTGCGTGGTGCAG	0.657																																						ENST00000445369.2																			1	Substitution - Missense(1)	p.C54S(1)	prostate(1)	endometrium(2)|large_intestine(1)|lung(5)|prostate(2)	10						c.(160-162)tGc>tCc		claudin 9							137	109	119					16																	3063524		2198	4300	6498	SO:0001583	missense	9080				calcium-independent cell-cell adhesion|tight junction assembly	integral to membrane|tight junction	identical protein binding|structural molecule activity	g.chr16:3063524G>C	AJ130941	CCDS10487.1	16p13.3	2008-08-01			ENSG00000213937	ENSG00000213937		"Claudins"	2051	protein-coding gene	gene with protein product		615799				9441748, 18234789	Standard	NM_020982		Approved		uc010uwo.1	O95484	OTTHUMG00000129000	ENST00000445369.2:c.161G>C	16.37:g.3063524G>C	ENSP00000398017:p.Cys54Ser						p.C54S	NM_020982.3	NP_066192.1	O95484	CLD9_HUMAN			1	1068	+			54						Missense_Mutation	SNP	ENST00000445369.2	37	c.161G>C	CCDS10487.1	.	.	.	.	.	.	.	.	.	.	G	25.0	4.590527	0.86851	.	.	ENSG00000213937	ENST00000445369	D	0.98207	-4.79	4.88	4.88	0.63580	Claudin, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.99465	0.9810	H	0.99516	4.605	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	D	0.97860	1.0280	10	0.87932	D	0	.	15.5702	0.76330	0.0:0.0:1.0:0.0	.	54	O95484	CLD9_HUMAN	S	54	ENSP00000398017:C54S	ENSP00000398017:C54S	C	+	2	0	CLDN9	3003525	1.000000	0.71417	0.996000	0.52242	0.973000	0.67179	9.652000	0.98499	2.509000	0.84616	0.591000	0.81541	TGC		0.657	CLDN9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250989.1	NM_020982		24	130	0	0	0	1	0	24	130					C	3063524	G	C	3063524	3	2	53	1	0	0	0	0	1	0	0	0	3492	1319	46	5	163	5	CLDN9	16	3063524	Missense_Mutation	SNP	G	TCGA-EJ-5504-01A-01D-1576-08		3063524	87291229	55	2804											
IL4R	3566	broad.mit.edu	37	chr16	27373986	27373986	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccttcttccaccttcgggaaGtacgagtgctcacatgccct	7	11	8	15	2	2	0	1	0	1	0	4	2	3	1	4	1	3	2	4	1	2	4			TCGA-EJ-5504-01A-01D-1576-08	TCGA-EJ-5504-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bd30acf-01c3-4c96-a016-63e8dce66217	316ecb66-2802-4972-9bdc-f11fd7f67801	g.chr16:27373986G>T	ENST00000395762.2	+	11	1572	c.1313G>T	c.(1312-1314)aGt>aTt	p.S438I	IL4R_ENST00000380922.3_Missense_Mutation_p.S423I|IL4R_ENST00000170630.2_Missense_Mutation_p.S438I|IL4R_ENST00000543915.2_Missense_Mutation_p.S438I	NM_000418.3	NP_000409.1	P24394	IL4RA_HUMAN	interleukin 4 receptor	438	Required for IRS1 activation and IL4- induced cell growth.				defense response to protozoan (GO:0042832)|immune response (GO:0006955)|interleukin-4-mediated signaling pathway (GO:0035771)|intracellular signal transduction (GO:0035556)|negative regulation of T-helper 1 cell differentiation (GO:0045626)|ovulation (GO:0030728)|positive regulation of chemokine secretion (GO:0090197)|positive regulation of macrophage activation (GO:0043032)|positive regulation of T-helper 2 cell differentiation (GO:0045630)|production of molecular mediator involved in inflammatory response (GO:0002532)|regulation of cell proliferation (GO:0042127)|response to estrogen (GO:0043627)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	interleukin-4 receptor activity (GO:0004913)|receptor signaling protein activity (GO:0005057)	p.S438I(1)		breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	33						CCTTCGGGAAGTACGAGTGCT	0.612																																						ENST00000395762.2																			1	Substitution - Missense(1)	p.S438I(1)	prostate(1)	breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	33						c.(1312-1314)aGt>aTt		interleukin 4 receptor							72	71	71					16																	27373986		2197	4300	6497	SO:0001583	missense	3566				immune response|production of molecular mediator involved in inflammatory response	integral to plasma membrane	identical protein binding|interleukin-4 receptor activity|receptor signaling protein activity	g.chr16:27373986G>T	X52425	CCDS10629.1, CCDS58441.1	16p12.1-p11.2	2008-05-14			ENSG00000077238	ENSG00000077238		"Interleukins and interleukin receptors", "CD molecules"	6015	protein-coding gene	gene with protein product		147781				1679753	Standard	NM_000418		Approved	CD124	uc010bxy.4	P24394	OTTHUMG00000097015	ENST00000395762.2:c.1313G>T	16.37:g.27373986G>T	ENSP00000379111:p.Ser438Ile					IL4R_ENST00000543915.2_Missense_Mutation_p.S438I|IL4R_ENST00000380922.3_Missense_Mutation_p.S423I|IL4R_ENST00000170630.2_Missense_Mutation_p.S438I	p.S438I	NM_000418.3	NP_000409.1	P24394	IL4RA_HUMAN			11	1572	+			438			Required for IRS1 activation and IL4- induced cell growth.		B4E076|B9EKU8|H3BSY5|Q96P01|Q9H181|Q9H182|Q9H183|Q9H184|Q9H185|Q9H186|Q9H187|Q9H188	Missense_Mutation	SNP	ENST00000395762.2	37	c.1313G>T	CCDS10629.1	.	.	.	.	.	.	.	.	.	.	g	13.17	2.156207	0.38021	.	.	ENSG00000077238	ENST00000395762;ENST00000543915;ENST00000380922;ENST00000170630	T;T;T;T	0.10573	2.86;2.86;2.86;2.86	5.31	1.05	0.20165	.	8.341870	0.00166	N	0.000002	T	0.12135	0.0295	L	0.46157	1.445	0.09310	N	1	P;P;P	0.49961	0.93;0.93;0.93	B;B;B	0.39068	0.289;0.289;0.289	T	0.36212	-0.9757	10	0.72032	D	0.01	-15.272	7.6017	0.28079	0.3741:0.0:0.6259:0.0	.	423;438;438	B4E076;B9EGC0;P24394	.;.;IL4RA_HUMAN	I	438;438;423;438	ENSP00000379111:S438I;ENSP00000441667:S438I;ENSP00000370309:S423I;ENSP00000170630:S438I	ENSP00000170630:S438I	S	+	2	0	IL4R	27281487	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.525000	0.06214	0.224000	0.20940	-0.140000	0.14226	AGT		0.612	IL4R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214104.4			35	141	1	0	9.04072e-19	1	1.0092e-18	35	141					T	27373986	G	T	27373986	3	4	53	1	0	0	0	0	1	0	0	0	7698	1029	36	5	1365	5	IL4R	16	27373986	Missense_Mutation	SNP	G	TCGA-EJ-5504-01A-01D-1576-08	24310462	27373986	62980767	56	2805											
OR3A1	4994	broad.mit.edu	37	chr17	3195519	3195519	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaatcggtcataggccatggCggtcagcaggaagcagtcca	11	6	14	10	2	2	0	2	0	0	0	4	2	3	1	2	5	2	2	2	5	3	1			TCGA-EJ-5504-01A-01D-1576-08	TCGA-EJ-5504-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bd30acf-01c3-4c96-a016-63e8dce66217	316ecb66-2802-4972-9bdc-f11fd7f67801	g.chr17:3195519C>T	ENST00000323404.1	-	1	357	c.358G>A	c.(358-360)Gcc>Acc	p.A120T	RP11-64J4.2_ENST00000573491.1_RNA	NM_002550.2	NP_002541.2	P47881	OR3A1_HUMAN	olfactory receptor, family 3, subfamily A, member 1	120				A -> D (in Ref. 6; AAA18347). {ECO:0000305}.	detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A120T(1)		central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	20						TAGGCCATGGCGGTCAGCAGG	0.612																																					GBM(20;287 516 18743 28660 36594)	ENST00000323404.1																			1	Substitution - Missense(1)	p.A120T(1)	prostate(1)	central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	20						c.(358-360)Gcc>Acc		olfactory receptor, family 3, subfamily A, member 1							89	79	83					17																	3195519		2203	4300	6503	SO:0001583	missense	4994				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr17:3195519C>T	X80391	CCDS11023.1	17p13.3	2012-08-09			ENSG00000180090	ENSG00000180090		"GPCR / Class A : Olfactory receptors"	8282	protein-coding gene	gene with protein product						8921386, 8647456	Standard	NM_002550		Approved	OLFRA03, OR40, OR17-40	uc002fvh.1	P47881	OTTHUMG00000090642	ENST00000323404.1:c.358G>A	17.37:g.3195519C>T	ENSP00000313803:p.Ala120Thr					RP11-64J4.2_ENST00000573491.1_RNA	p.A120T	NM_002550.2	NP_002541.2	P47881	OR3A1_HUMAN			1	357	-			120	A -> D (in Ref. 6; AAA18347).				Q4VB06|Q6IFM4	Missense_Mutation	SNP	ENST00000323404.1	37	c.358G>A	CCDS11023.1	.	.	.	.	.	.	.	.	.	.	C	13.45	2.242133	0.39598	.	.	ENSG00000180090	ENST00000323404	T	0.03035	4.07	5.31	5.31	0.75309	GPCR, rhodopsin-like superfamily (1);	0.129543	0.35349	N	0.003263	T	0.04952	0.0133	L	0.56396	1.775	0.29917	N	0.823072	P	0.48911	0.917	B	0.40038	0.317	T	0.15578	-1.0432	10	0.56958	D	0.05	-24.6571	7.9	0.29729	0.0:0.8361:0.0:0.1639	.	120	P47881	OR3A1_HUMAN	T	120	ENSP00000313803:A120T	ENSP00000313803:A120T	A	-	1	0	OR3A1	3142269	0.000000	0.05858	1.000000	0.80357	0.487000	0.33371	0.330000	0.19715	2.753000	0.94483	0.650000	0.86243	GCC		0.612	OR3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207302.2			9	120	0	0	0	1	0	9	120					T	3195519	C	T	3195519	3	4	53	1	0	0	0	0	1	0	0	0	11037	768	27	1	593	1	OR3A1	17	3195519	Missense_Mutation	SNP	C	TCGA-EJ-5504-01A-01D-1576-08		3195519	77999691	57	2806											
SALL3	27164	broad.mit.edu	37	chr18	76753607	76753607	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cactgtccctggcgcgcacgGctacgccgactctcccagcg	5	6	11	19	6	1	0	0	0	1	0	3	1	2	0	3	2	2	2	3	2	1	1			TCGA-EJ-5504-01A-01D-1576-08	TCGA-EJ-5504-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bd30acf-01c3-4c96-a016-63e8dce66217	316ecb66-2802-4972-9bdc-f11fd7f67801	g.chr18:76753607G>C	ENST00000537592.2	+	2	1616	c.1616G>C	c.(1615-1617)gGc>gCc	p.G539A	SALL3_ENST00000575389.2_Missense_Mutation_p.G539A|SALL3_ENST00000536229.3_Missense_Mutation_p.G406A	NM_171999.3	NP_741996.2	Q9BXA9	SALL3_HUMAN	spalt-like transcription factor 3	539					forelimb morphogenesis (GO:0035136)|hindlimb morphogenesis (GO:0035137)|negative regulation of smoothened signaling pathway (GO:0045879)|olfactory bulb interneuron development (GO:0021891)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.G539A(2)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)		GGCGCGCACGGCTACGCCGAC	0.731																																						ENST00000536229.3																			2	Substitution - Missense(2)	p.G539A(2)	prostate(2)	NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	74						c.(1216-1218)gGc>gCc		spalt-like transcription factor 3							9	9	9					18																	76753607		2154	4171	6325	SO:0001583	missense	27164				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr18:76753607G>C	AJ007421	CCDS12013.1	18q23	2013-10-17	2013-10-17		ENSG00000256463	ENSG00000256463		"Zinc fingers, C2H2-type"	10527	protein-coding gene	gene with protein product		605079	"sal (Drosophila)-like 3", "sal-like 3 (Drosophila)"			10610715	Standard	NM_171999		Approved	ZNF796	uc002lmt.3	Q9BXA9	OTTHUMG00000132896	ENST00000537592.2:c.1616G>C	18.37:g.76753607G>C	ENSP00000441823:p.Gly539Ala					SALL3_ENST00000575389.2_Missense_Mutation_p.G539A|SALL3_ENST00000537592.2_Missense_Mutation_p.G539A	p.G406A			Q9BXA9	SALL3_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)	1	1926	+		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)	539					Q9UGH1	Missense_Mutation	SNP	ENST00000537592.2	37	c.1217G>C	CCDS12013.1	.	.	.	.	.	.	.	.	.	.	G	1.449	-0.565433	0.03939	.	.	ENSG00000256463	ENST00000537592;ENST00000536229;ENST00000543056	T	0.08807	3.05	4.56	2.74	0.32292	.	0.508491	0.18561	N	0.137638	T	0.05181	0.0138	L	0.29908	0.895	0.23271	N	0.998008	B;B	0.24483	0.056;0.104	B;B	0.26969	0.075;0.058	T	0.44345	-0.9334	10	0.02654	T	1	-17.2324	7.6093	0.28120	0.2668:0.0:0.7332:0.0	.	271;539	F5GXY4;Q9BXA9	.;SALL3_HUMAN	A	539;539;271	ENSP00000441823:G539A	ENSP00000299466:G539A	G	+	2	0	SALL3	74854595	0.998000	0.40836	0.009000	0.14445	0.054000	0.15201	1.389000	0.34453	0.362000	0.24319	0.563000	0.77884	GGC		0.731	SALL3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256397.1	NM_171999		6	10	0	0	0	1	0	6	10					C	76753607	G	C	76753607	3	2	53	1	0	0	0	0	1	0	0	0	13812	1203	42	5	1622	5	SALL3	18	76753607	Missense_Mutation	SNP	G	TCGA-EJ-5504-01A-01D-1576-08		76753607	1323641	58	2807											
PLCB4	5332	broad.mit.edu	37	chr20	9364889	9364889	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tttgcagatatctgatgtcaGatgaaaacgccccagtcttc	11	12	8	10	1	3	4	1	2	2	2	4	4	3	4	2	0	2	1	2	0	3	3			TCGA-EJ-5504-01A-01D-1576-08	TCGA-EJ-5504-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bd30acf-01c3-4c96-a016-63e8dce66217	316ecb66-2802-4972-9bdc-f11fd7f67801	g.chr20:9364889G>A	ENST00000378493.1	+	11	910	c.895G>A	c.(895-897)Gat>Aat	p.D299N	PLCB4_ENST00000278655.4_Missense_Mutation_p.D299N|PLCB4_ENST00000334005.3_Missense_Mutation_p.D299N|PLCB4_ENST00000378501.2_Missense_Mutation_p.D299N|PLCB4_ENST00000414679.2_Missense_Mutation_p.D299N|PLCB4_ENST00000378473.3_Missense_Mutation_p.D299N|PLCB4_ENST00000492632.1_3'UTR			Q15147	PLCB4_HUMAN	phospholipase C, beta 4	299					inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|dendrite (GO:0030425)|nucleus (GO:0005634)|postsynaptic density (GO:0014069)|smooth endoplasmic reticulum (GO:0005790)	calcium ion binding (GO:0005509)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)	p.D299N(2)		NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						TCTGATGTCAGATGAAAACGC	0.408																																						ENST00000378501.2																			2	Substitution - Missense(2)	p.D299N(2)	prostate(2)	NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						c.(895-897)Gat>Aat		phospholipase C, beta 4							182	175	177					20																	9364889		2203	4300	6503	SO:0001583	missense	5332				intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity	g.chr20:9364889G>A		CCDS13104.1, CCDS13105.1, CCDS54447.1	20p12	2008-03-18			ENSG00000101333	ENSG00000101333	3.1.4.11		9059	protein-coding gene	gene with protein product		600810				8530101	Standard	NM_000933		Approved		uc021wam.1	Q15147	OTTHUMG00000031853	ENST00000378493.1:c.895G>A	20.37:g.9364889G>A	ENSP00000367754:p.Asp299Asn					PLCB4_ENST00000414679.2_Missense_Mutation_p.D299N|PLCB4_ENST00000278655.4_Missense_Mutation_p.D299N|PLCB4_ENST00000378493.1_Missense_Mutation_p.D299N|PLCB4_ENST00000334005.3_Missense_Mutation_p.D299N|PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000378473.3_Missense_Mutation_p.D299N	p.D299N	NM_000933.3	NP_000924.3	Q15147	PLCB4_HUMAN			11	910	+			299					B7ZLK6|E2QRH8|Q17R56|Q5JYS8|Q5JYS9|Q5JYT0|Q5JYT3|Q5JYT4|Q9BQW5|Q9BQW6|Q9BQW8|Q9UJQ2	Missense_Mutation	SNP	ENST00000378493.1	37	c.895G>A	CCDS13105.1	.	.	.	.	.	.	.	.	.	.	G	36	5.618949	0.96649	.	.	ENSG00000101333	ENST00000334005;ENST00000378473;ENST00000278655;ENST00000378493;ENST00000378501;ENST00000414679	T;T;T;T;T;T	0.47177	0.85;0.85;0.85;0.85;0.85;0.85	5.93	5.93	0.95920	Phospholipase C, phosphoinositol-specific, EF-hand-like (1);EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	T	0.72078	0.3416	M	0.78285	2.405	0.80722	D	1	D;D;D;D	0.89917	1.0;0.964;0.997;1.0	D;P;D;D	0.81914	0.995;0.879;0.992;0.992	T	0.73553	-0.3946	10	0.87932	D	0	.	20.3363	0.98740	0.0:0.0:1.0:0.0	.	299;146;299;299	E2QRH8;Q15147-2;Q15147;Q15147-4	.;.;PLCB4_HUMAN;.	N	299;299;299;299;299;135	ENSP00000334105:D299N;ENSP00000367734:D299N;ENSP00000278655:D299N;ENSP00000367754:D299N;ENSP00000367762:D299N;ENSP00000390616:D135N	ENSP00000278655:D299N	D	+	1	0	PLCB4	9312889	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.476000	0.97823	2.814000	0.96858	0.563000	0.77884	GAT		0.408	PLCB4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000077948.2			12	226	0	0	0	1	0	12	226					A	9364889	G	A	9364889	3	1	53	1	0	0	0	0	1	0	0	0	12030	942	33	3	937	3	PLCB4	20	9364889	Missense_Mutation	SNP	G	TCGA-EJ-5504-01A-01D-1576-08		9364889	53660631	59	2808											
MYH7B	57644	broad.mit.edu	37	chr20	33575015	33575015	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgctataagatcgtgggcGccctcctgcactttggcaac	7	10	10	14	2	0	1	0	0	0	1	2	1	1	1	3	2	3	3	3	2	3	3	rs202008106		TCGA-EJ-5504-01A-01D-1576-08	TCGA-EJ-5504-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bd30acf-01c3-4c96-a016-63e8dce66217	316ecb66-2802-4972-9bdc-f11fd7f67801	g.chr20:33575015G>A	ENST00000262873.7	+	14	1290	c.1198G>A	c.(1198-1200)Gcc>Acc	p.A400T		NM_020884.3	NP_065935.2	A7E2Y1	MYH7B_HUMAN	myosin, heavy chain 7B, cardiac muscle, beta	358	Myosin motor.					membrane (GO:0016020)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)	p.A400T(1)		NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	54			BRCA - Breast invasive adenocarcinoma(18;0.00691)			GATCGTGGGCGCCCTCCTGCA	0.587																																						ENST00000262873.7																			1	Substitution - Missense(1)	p.A400T(1)	prostate(1)	NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	54						c.(1198-1200)Gcc>Acc		myosin, heavy chain 7B, cardiac muscle, beta							90	94	93					20																	33575015		2203	4300	6503	SO:0001583	missense	57644					membrane|myosin filament	actin binding|ATP binding|motor activity	g.chr20:33575015G>A	AB040945	CCDS42869.1	20q11	2011-09-27	2006-09-29		ENSG00000078814	ENSG00000078814		"Myosins / Myosin superfamily : Class II"	15906	protein-coding gene	gene with protein product		609928	"myosin, heavy polypeptide 7B, cardiac muscle, beta"			11919279, 15014174	Standard	XM_006723839		Approved	KIAA1512, dJ756N5.1, MYH14, MHC14	uc002xbi.2	A7E2Y1	OTTHUMG00000032320	ENST00000262873.7:c.1198G>A	20.37:g.33575015G>A	ENSP00000262873:p.Ala400Thr						p.A400T	NM_020884.3	NP_065935.2	A7E2Y1	MYH7B_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.00691)		14	1290	+			358			Myosin head-like.		Q5JVW7|Q6NT44|Q6NT57|Q6WG75|Q96I57|Q9NWE2|Q9P216	Missense_Mutation	SNP	ENST00000262873.7	37	c.1198G>A	CCDS42869.1	.	.	.	.	.	.	.	.	.	.	G	32	5.183727	0.94885	.	.	ENSG00000078814	ENST00000262873	T	0.77750	-1.12	3.67	3.67	0.42095	Myosin head, motor domain (2);	0.000000	0.37669	N	0.001987	D	0.88713	0.6511	M	0.93106	3.38	0.58432	D	0.999999	D	0.58268	0.982	P	0.57324	0.818	D	0.91956	0.5575	10	0.66056	D	0.02	.	16.7056	0.85371	0.0:0.0:1.0:0.0	.	358	A7E2Y1	MYH7B_HUMAN	T	400	ENSP00000262873:A400T	ENSP00000262873:A400T	A	+	1	0	MYH7B	33038676	1.000000	0.71417	0.997000	0.53966	0.976000	0.68499	9.657000	0.98554	2.368000	0.80403	0.561000	0.74099	GCC		0.587	MYH7B-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000078833.2	NM_020884		14	166	0	0	0	1	0	14	166					A	33575015	G	A	33575015	3	1	53	1	0	0	0	0	1	0	0	0	10040	1087	38	1	1252	1	MYH7B	20	33575015	Missense_Mutation	SNP	G	TCGA-EJ-5504-01A-01D-1576-08	24210126	33575015	29450505	60	2809											
KCNB1	3745	broad.mit.edu	37	chr20	47989612	47989612	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gttctcaagtttgcacttttCctgaccactggggccttttc	5	16	8	12	0	1	1	1	1	1	0	4	1	2	1	3	2	1	3	3	2	1	6			TCGA-EJ-5504-01A-01D-1576-08	TCGA-EJ-5504-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bd30acf-01c3-4c96-a016-63e8dce66217	316ecb66-2802-4972-9bdc-f11fd7f67801	g.chr20:47989612C>T	ENST00000371741.4	-	2	2651	c.2485G>A	c.(2485-2487)Gaa>Aaa	p.E829K		NM_004975.2	NP_004966.1	Q14721	KCNB1_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 1	829					energy reserve metabolic process (GO:0006112)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|dendrite membrane (GO:0032590)|neuronal cell body membrane (GO:0032809)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|outward rectifier potassium channel activity (GO:0015271)	p.E829K(1)		central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1)	53			BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		Dalfampridine(DB06637)	TTGCACTTTTCCTGACCACTG	0.522																																						ENST00000371741.4																			1	Substitution - Missense(1)	p.E829K(1)	prostate(1)	central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1)	53						c.(2485-2487)Gaa>Aaa		potassium voltage-gated channel, Shab-related subfamily, member 1							113	108	109					20																	47989612		2203	4300	6503	SO:0001583	missense	3745				energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity	g.chr20:47989612C>T	AF026005	CCDS13418.1	20q13.2	2012-07-05			ENSG00000158445	ENSG00000158445		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6231	protein-coding gene	gene with protein product		600397				7774931, 16382104	Standard	NM_004975		Approved	Kv2.1	uc002xur.1	Q14721	OTTHUMG00000033051	ENST00000371741.4:c.2485G>A	20.37:g.47989612C>T	ENSP00000360806:p.Glu829Lys						p.E829K	NM_004975.2	NP_004966.1	Q14721	KCNB1_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		2	2651	-			829					Q14193	Missense_Mutation	SNP	ENST00000371741.4	37	c.2485G>A	CCDS13418.1	.	.	.	.	.	.	.	.	.	.	C	16.58	3.163191	0.57476	.	.	ENSG00000158445	ENST00000371741;ENST00000538812	D	0.98585	-5.01	5.56	5.56	0.83823	.	0.906191	0.09266	N	0.825772	D	0.97511	0.9185	L	0.60455	1.87	0.48696	D	0.999691	P	0.38473	0.633	B	0.37692	0.256	D	0.95083	0.8215	10	0.72032	D	0.01	.	19.1308	0.93406	0.0:1.0:0.0:0.0	.	829	Q14721	KCNB1_HUMAN	K	829;784	ENSP00000360806:E829K	ENSP00000360806:E829K	E	-	1	0	KCNB1	47423019	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.366000	0.52343	2.598000	0.87819	0.655000	0.94253	GAA		0.522	KCNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080374.3	NM_004975		7	162	0	0	0	1	0	7	162					T	47989612	C	T	47989612	3	4	53	1	0	0	0	0	1	0	0	0	8012	864	30	3	95	3	KCNB1	20	47989612	Missense_Mutation	SNP	C	TCGA-EJ-5504-01A-01D-1576-08	14414597	47989612	15035908	61	2810											
TRAPPC10	7109	broad.mit.edu	37	chr21	45523339	45523339	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gccggccggccaggtcttcaActccagctcgggcacacaag	8	5	12	16	3	2	0	1	0	1	0	4	0	3	0	4	4	2	2	4	4	2	1			TCGA-EJ-5504-01A-01D-1576-08	TCGA-EJ-5504-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bd30acf-01c3-4c96-a016-63e8dce66217	316ecb66-2802-4972-9bdc-f11fd7f67801	g.chr21:45523339A>G	ENST00000291574.4	+	23	3882	c.3707A>G	c.(3706-3708)aAc>aGc	p.N1236S		NM_003274.4	NP_003265.3	P48553	TPC10_HUMAN	trafficking protein particle complex 10	1236					sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|vesicle-mediated transport (GO:0016192)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	sodium ion transmembrane transporter activity (GO:0015081)	p.N1236S(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(4)	41						CAGGTCTTCAACTCCAGCTCG	0.622																																						ENST00000291574.4																			1	Substitution - Missense(1)	p.N1236S(1)	prostate(1)	NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(4)	41						c.(3706-3708)aAc>aGc		trafficking protein particle complex 10							36	34	34					21																	45523339		2203	4300	6503	SO:0001583	missense	7109				vesicle-mediated transport	Golgi apparatus|integral to membrane	binding|sodium ion transmembrane transporter activity	g.chr21:45523339A>G	U19252	CCDS13704.1	21q22.3	2008-05-07	2008-05-07	2008-05-07	ENSG00000160218	ENSG00000160218		"Trafficking protein particle complex"	11868	protein-coding gene	gene with protein product	"trafficking protein particle complex subunit 130", "TRAPP 130 kDa subunit"	602103	"transmembrane protein 1"	TMEM1		7633421	Standard	NM_003274		Approved	EHOC-1, TRS130	uc002zea.3	P48553	OTTHUMG00000086894	ENST00000291574.4:c.3707A>G	21.37:g.45523339A>G	ENSP00000291574:p.Asn1236Ser						p.N1236S	NM_003274.4	NP_003265.3	P48553	TPC10_HUMAN			23	3882	+			1236					Q3MIR2|Q86SI7|Q9UMD4|Q9Y4L3	Missense_Mutation	SNP	ENST00000291574.4	37	c.3707A>G	CCDS13704.1	.	.	.	.	.	.	.	.	.	.	A	13.43	2.236036	0.39498	.	.	ENSG00000160218	ENST00000291574;ENST00000542855	T	0.26810	1.71	4.9	4.9	0.64082	.	0.000000	0.85682	D	0.000000	T	0.26882	0.0658	L	0.42245	1.32	0.53688	D	0.999974	P;P	0.47034	0.889;0.549	B;B	0.43658	0.426;0.27	T	0.02404	-1.1164	10	0.41790	T	0.15	.	14.835	0.70175	1.0:0.0:0.0:0.0	.	495;1236	B4DI17;P48553	.;TPC10_HUMAN	S	1236;367	ENSP00000291574:N1236S	ENSP00000291574:N1236S	N	+	2	0	TRAPPC10	44347767	1.000000	0.71417	0.975000	0.42487	0.464000	0.32679	6.915000	0.75770	1.959000	0.56917	0.533000	0.62120	AAC		0.622	TRAPPC10-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000195737.1	NM_003274		7	39	0	0	0	1	0	7	39					G	45523339	A	G	45523339	3	3	53	1	0	0	0	0	1	0	0	0	16454	43	2	4	3797	4	TRAPPC10	21	45523339	Missense_Mutation	SNP	A	TCGA-EJ-5504-01A-01D-1576-08		45523339	2606556	62	2811											
GNB1L	54584	broad.mit.edu	37	chr22	19808139	19808139	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acctgaggagctggcgccccTggggcagcgtctgcagccag	6	5	16	14	2	1	1	0	1	1	0	1	2	1	2	4	4	4	3	4	4	0	0			TCGA-EJ-5504-01A-01D-1576-08	TCGA-EJ-5504-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bd30acf-01c3-4c96-a016-63e8dce66217	316ecb66-2802-4972-9bdc-f11fd7f67801	g.chr22:19808139T>G	ENST00000329517.6	-	4	472	c.236A>C	c.(235-237)cAg>cCg	p.Q79P	GNB1L_ENST00000460402.1_Intron|GNB1L_ENST00000403325.1_Missense_Mutation_p.Q79P|GNB1L_ENST00000405009.1_Missense_Mutation_p.Q79P	NM_053004.2	NP_443730.1	Q9BYB4	GNB1L_HUMAN	guanine nucleotide binding protein (G protein), beta polypeptide 1-like	79					G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|social behavior (GO:0035176)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)		p.Q79P(1)		breast(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(3)|skin(1)	12	Colorectal(54;0.0993)					CTGGCGCCCCTGGGGCAGCGT	0.657																																						ENST00000329517.6																			1	Substitution - Missense(1)	p.Q79P(1)	prostate(1)	breast(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(3)|skin(1)	12						c.(235-237)cAg>cCg		guanine nucleotide binding protein (G protein), beta polypeptide 1-like							28	33	32					22																	19808139		2203	4299	6502	SO:0001583	missense	0				G-protein coupled receptor protein signaling pathway|intracellular signal transduction	internal side of plasma membrane|intracellular		g.chr22:19808139T>G	AF238328	CCDS13768.1	22q11.2	2013-05-21			ENSG00000185838	ENSG00000185838		"WD repeat domain containing"	4397	protein-coding gene	gene with protein product		610778				11072084	Standard	NM_053004		Approved	GY2, WDR14	uc002zqf.1	Q9BYB4	OTTHUMG00000150279	ENST00000329517.6:c.236A>C	22.37:g.19808139T>G	ENSP00000331313:p.Gln79Pro					GNB1L_ENST00000405009.1_Missense_Mutation_p.Q79P|GNB1L_ENST00000460402.1_Intron|GNB1L_ENST00000403325.1_Missense_Mutation_p.Q79P	p.Q79P	NM_053004.2	NP_443730.1	Q9BYB4	GNB1L_HUMAN			4	472	-	Colorectal(54;0.0993)		79					Q9H2S2|Q9H4M4	Missense_Mutation	SNP	ENST00000329517.6	37	c.236A>C	CCDS13768.1	.	.	.	.	.	.	.	.	.	.	T	11.19	1.565522	0.27915	.	.	ENSG00000185838	ENST00000329517;ENST00000403325;ENST00000405009	T;T;T	0.37584	1.19;1.19;5.0	5.57	2.2	0.27929	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.771754	0.11573	U	0.550516	T	0.24353	0.0590	L	0.58101	1.795	0.19945	N	0.999946	P	0.47302	0.893	B	0.31290	0.127	T	0.38045	-0.9679	10	0.87932	D	0	-16.2102	1.8293	0.03127	0.1681:0.0893:0.1757:0.5669	.	79	Q9BYB4	GNB1L_HUMAN	P	79	ENSP00000331313:Q79P;ENSP00000385154:Q79P;ENSP00000384626:Q79P	ENSP00000331313:Q79P	Q	-	2	0	GNB1L	18188139	0.348000	0.24861	0.734000	0.30879	0.972000	0.66771	0.530000	0.23036	0.356000	0.24157	0.455000	0.32223	CAG		0.657	GNB1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075202.1			5	68	0	0	0	1	0	5	68					G	19808139	T	G	19808139	3	3	53	1	0	0	0	0	1	0	0	0	6516	1580	55	5	767	5	GNB1L	22	19808139	Missense_Mutation	SNP	T	TCGA-EJ-5504-01A-01D-1576-08		19808139	31496427	63	2812											
MYO18B	84700	broad.mit.edu	37	chr22	26423244	26423244	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cccaagcctcgactacgaacGcaagaccaaagtggacttcg	13	5	9	14	4	0	1	0	0	0	1	2	4	0	2	3	1	3	1	3	1	5	2			TCGA-EJ-5504-01A-01D-1576-08	TCGA-EJ-5504-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bd30acf-01c3-4c96-a016-63e8dce66217	316ecb66-2802-4972-9bdc-f11fd7f67801	g.chr22:26423244G>A	ENST00000407587.2	+	43	7476	c.7307G>A	c.(7306-7308)cGc>cAc	p.R2436H	MYO18B_ENST00000536101.1_Missense_Mutation_p.R2435H|MYO18B_ENST00000335473.7_Missense_Mutation_p.R2435H			Q8IUG5	MY18B_HUMAN	myosin XVIIIB	2435						cytoplasm (GO:0005737)|nucleus (GO:0005634)|unconventional myosin complex (GO:0016461)	ATP binding (GO:0005524)|motor activity (GO:0003774)	p.R2436H(1)|p.R2435H(1)		NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						GACTACGAACGCAAGACCAAA	0.562																																						ENST00000335473.7																			2	Substitution - Missense(2)	p.R2436H(1)|p.R2435H(1)	prostate(2)	NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						c.(7303-7305)cGc>cAc		myosin XVIIIB							122	124	123					22																	26423244		2009	4166	6175	SO:0001583	missense	84700					nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity	g.chr22:26423244G>A	AJ310931	CCDS54507.1	22q12.1	2011-09-27			ENSG00000133454	ENSG00000133454		"Myosins / Myosin superfamily : Class XVIII"	18150	protein-coding gene	gene with protein product		607295				12209013, 12547197	Standard	NM_032608		Approved	BK125H2.1	uc003abz.1	Q8IUG5	OTTHUMG00000151129	ENST00000407587.2:c.7307G>A	22.37:g.26423244G>A	ENSP00000386096:p.Arg2436His					MYO18B_ENST00000407587.2_Missense_Mutation_p.R2436H|MYO18B_ENST00000536101.1_Missense_Mutation_p.R2435H	p.R2435H	NM_032608.5	NP_115997.5	Q8IUG5	MY18B_HUMAN			43	7554	+			2435					B2RWP3|F5GYU7|Q8NDI8|Q8TE65|Q8WWS0|Q96KH2|Q96KR8|Q96KR9	Missense_Mutation	SNP	ENST00000407587.2	37	c.7304G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	7.322|7.322	0.617232|0.617232	0.14129|0.14129	.|.	.|.	ENSG00000133454|ENSG00000133454	ENST00000543971|ENST00000536101;ENST00000335473;ENST00000407587	.|D;D;D	.|0.88586	.|-2.38;-2.38;-2.4	5.27|5.27	-1.92|-1.92	0.07618|0.07618	.|.	.|0.716399	.|0.11797	.|N	.|0.528580	T|T	0.82125|0.82125	0.4969|0.4969	L|L	0.60455|0.60455	1.87|1.87	0.09310|0.09310	N|N	1|1	.|B;B;B;B;B	.|0.25007	.|0.03;0.071;0.071;0.055;0.116	.|B;B;B;B;B	.|0.17098	.|0.011;0.007;0.007;0.011;0.017	T|T	0.71563|0.71563	-0.4555|-0.4555	5|10	.|0.87932	.|D	.|0	.|.	2.6688|2.6688	0.05061|0.05061	0.1992:0.246:0.43:0.1248|0.1992:0.246:0.43:0.1248	.|.	.|1948;2437;2435;2436;2435	.|Q8IUG5-2;B0QYF5;Q8IUG5;F5GXR6;F5GYU7	.|.;.;MY18B_HUMAN;.;.	T|H	385|2435;2435;2436	.|ENSP00000441229:R2435H;ENSP00000334563:R2435H;ENSP00000386096:R2436H	.|ENSP00000334563:R2435H	A|R	+|+	1|2	0|0	MYO18B|MYO18B	24753244|24753244	0.634000|0.634000	0.27190|0.27190	0.010000|0.010000	0.14722|0.14722	0.050000|0.050000	0.14768|0.14768	2.239000|2.239000	0.43079|0.43079	-0.131000|-0.131000	0.11578|0.11578	-0.310000|-0.310000	0.09108|0.09108	GCA|CGC		0.562	MYO18B-006	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000400691.1	NM_032608		4	146	0	0	0	1	0	4	146					A	26423244	G	A	26423244	3	1	53	1	0	0	0	0	1	0	0	0	10066	1087	38	1	7470	1	MYO18B	22	26423244	Missense_Mutation	SNP	G	TCGA-EJ-5504-01A-01D-1576-08	6615105	26423244	24881322	64	2813											
GLRA2	2742	broad.mit.edu	37	chrX	14748515	14748515	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aaaggattgacacgatatctCgagctgccttcccattggcc	10	10	9	12	2	1	1	0	1	1	0	3	4	2	2	3	2	2	1	3	2	2	4			TCGA-EJ-5504-01A-01D-1576-08	TCGA-EJ-5504-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bd30acf-01c3-4c96-a016-63e8dce66217	316ecb66-2802-4972-9bdc-f11fd7f67801	g.chrX:14748515C>T	ENST00000218075.4	+	9	1797	c.1267C>T	c.(1267-1269)Cga>Tga	p.R423*	GLRA2_ENST00000443437.2_Nonsense_Mutation_p.R334*|GLRA2_ENST00000355020.4_Nonsense_Mutation_p.R423*	NM_002063.3	NP_002054.1	P23416	GLRA2_HUMAN	glycine receptor, alpha 2	423					chloride transmembrane transport (GO:1902476)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|neuropeptide signaling pathway (GO:0007218)|synapse assembly (GO:0007416)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	extracellular-glycine-gated chloride channel activity (GO:0016934)|glycine binding (GO:0016594)|transmitter-gated ion channel activity (GO:0022824)	p.R423*(3)		breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(22)|ovary(1)|prostate(1)|skin(2)	37	Hepatocellular(33;0.128)				Ethanol(DB00898)|Glycine(DB00145)|Lindane(DB00431)	CACGATATCTCGAGCTGCCTT	0.473																																						ENST00000218075.4																			3	Substitution - Nonsense(3)	p.R423*(3)	prostate(2)|skin(1)	breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(22)|ovary(1)|prostate(1)|skin(2)	37						c.(1267-1269)Cga>Tga		glycine receptor, alpha 2	Ethanol(DB00898)|Glycine(DB00145)						192	147	162					X																	14748515		2203	4300	6503	SO:0001587	stop_gained	2742				neuropeptide signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity	g.chrX:14748515C>T		CCDS14160.1, CCDS48085.1, CCDS55371.1	Xp22.2	2012-02-07			ENSG00000101958	ENSG00000101958		"Ligand-gated ion channels / Glycine receptors"	4327	protein-coding gene	gene with protein product		305990		GLR			Standard	NM_002063		Approved		uc010nep.3	P23416	OTTHUMG00000021166	ENST00000218075.4:c.1267C>T	X.37:g.14748515C>T	ENSP00000218075:p.Arg423*					GLRA2_ENST00000355020.4_Nonsense_Mutation_p.R423*|GLRA2_ENST00000443437.2_Nonsense_Mutation_p.R334*	p.R423*	NM_002063.3	NP_002054.1	P23416	GLRA2_HUMAN			9	1797	+	Hepatocellular(33;0.128)		423					A8K0J6|B2R6I8|B7Z4F5|J3KQ59|Q53YX7|Q6ICQ0|Q99862	Nonsense_Mutation	SNP	ENST00000218075.4	37	c.1267C>T	CCDS14160.1	.	.	.	.	.	.	.	.	.	.	C	43	9.825646	0.99273	.	.	ENSG00000101958	ENST00000443437;ENST00000218075;ENST00000355020	.	.	.	5.5	4.63	0.57726	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.6717	0.62430	0.0:0.9236:0.0:0.0764	.	.	.	.	X	334;423;423	.	ENSP00000218075:R423X	R	+	1	2	GLRA2	14658436	1.000000	0.71417	0.980000	0.43619	0.996000	0.88848	3.684000	0.54671	1.092000	0.41356	0.544000	0.68410	CGA		0.473	GLRA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055829.1			50	71	0	0	0	1	0	50	71					T	14748515	C	T	14748515	4	4	53	1	0	0	0	0	0	1	0	0	6455	876	31	2	1373	2	GLRA2	23	14748515	Nonsense_Mutation	SNP	C	TCGA-EJ-5504-01A-01D-1576-08		14748515	140522045	65	2814											
TEX13B	56156	broad.mit.edu	37	chrX	107225170	107225170	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccaggtgcaggcctctttgAcctcgctgggcacctcgctg	4	9	12	16	2	1	1	0	1	1	0	3	1	1	1	4	3	1	4	4	3	0	1			TCGA-EJ-5504-01A-01D-1576-08	TCGA-EJ-5504-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bd30acf-01c3-4c96-a016-63e8dce66217	316ecb66-2802-4972-9bdc-f11fd7f67801	g.chrX:107225170A>G	ENST00000302917.1	-	2	280	c.188T>C	c.(187-189)gTc>gCc	p.V63A		NM_031273.2	NP_112563.1	Q9BXU2	TX13B_HUMAN	testis expressed 13B	63								p.V63A(2)		breast(1)|endometrium(5)|large_intestine(4)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	28						GGCCTCTTTGACCTCGCTGGG	0.597																																						ENST00000302917.1																			2	Substitution - Missense(2)	p.V63A(2)	prostate(1)|lung(1)	breast(1)|endometrium(5)|large_intestine(4)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	28						c.(187-189)gTc>gCc		testis expressed 13B							88	83	85					X																	107225170		2199	4300	6499	SO:0001583	missense	0							g.chrX:107225170A>G	AF285598	CCDS14534.1	Xq23	2008-02-05	2007-03-13		ENSG00000170925	ENSG00000170925			11736	protein-coding gene	gene with protein product		300313	"testis expressed sequence 13B"			11279525	Standard	NM_031273		Approved	TSGA5, TGC3B	uc004enn.1	Q9BXU2	OTTHUMG00000022174	ENST00000302917.1:c.188T>C	X.37:g.107225170A>G	ENSP00000303777:p.Val63Ala						p.V63A	NM_031273.2	NP_112563.1	Q9BXU2	TX13B_HUMAN			2	280	-			63					Q5JYF6	Missense_Mutation	SNP	ENST00000302917.1	37	c.188T>C	CCDS14534.1	.	.	.	.	.	.	.	.	.	.	A	0.899	-0.722879	0.03158	.	.	ENSG00000170925	ENST00000302917	.	.	.	3.28	-0.343	0.12632	.	.	.	.	.	T	0.17831	0.0428	N	0.14661	0.345	0.09310	N	1	B	0.28713	0.22	B	0.25140	0.058	T	0.18999	-1.0319	8	0.33141	T	0.24	.	5.766	0.18227	0.5936:0.0:0.4064:0.0	.	63	Q9BXU2	TX13B_HUMAN	A	63	.	ENSP00000303777:V63A	V	-	2	0	TEX13B	107111826	0.723000	0.28027	0.027000	0.17364	0.013000	0.08279	0.127000	0.15790	-0.187000	0.10516	-0.404000	0.06349	GTC		0.597	TEX13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057857.1			16	171	0	0	0	1	0	16	171					G	107225170	A	G	107225170	3	3	53	1	0	0	0	0	1	0	0	0	15774	275	10	4	758	4	TEX13B	23	107225170	Missense_Mutation	SNP	A	TCGA-EJ-5504-01A-01D-1576-08	92476655	107225170	48045390	66	2815											
GPR50	9248	broad.mit.edu	37	chrX	150348254	150348254	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtttttcaggcaacatcttcGtggtcagtctctctgtggcc	5	15	10	11	1	5	0	2	0	3	0	7	0	5	0	1	3	1	2	1	3	1	3			TCGA-EJ-5504-01A-01D-1576-08	TCGA-EJ-5504-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bd30acf-01c3-4c96-a016-63e8dce66217	316ecb66-2802-4972-9bdc-f11fd7f67801	g.chrX:150348254G>A	ENST00000218316.3	+	2	268	c.199G>A	c.(199-201)Gtg>Atg	p.V67M	AF003625.3_ENST00000602313.1_lincRNA|GPR50-AS1_ENST00000454196.1_RNA	NM_004224.3	NP_004215.2	Q13585	MTR1L_HUMAN	G protein-coupled receptor 50	67					cell-cell signaling (GO:0007267)|G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)|identical protein binding (GO:0042802)|melatonin receptor activity (GO:0008502)	p.V67M(3)		breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	38	Acute lymphoblastic leukemia(192;6.56e-05)					CAACATCTTCGTGGTCAGTCT	0.483																																						ENST00000218316.3																			3	Substitution - Missense(3)	p.V67M(3)	prostate(3)	breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	38						c.(199-201)Gtg>Atg		G protein-coupled receptor 50							292	284	287					X																	150348254		2098	4207	6305	SO:0001583	missense	9248				cell-cell signaling	integral to plasma membrane	melatonin receptor activity	g.chrX:150348254G>A	U52219	CCDS44012.1	Xq28	2012-08-21			ENSG00000102195	ENSG00000102195		"GPCR / Class A : Orphans"	4506	protein-coding gene	gene with protein product		300207				9933574, 18400093	Standard	NM_004224		Approved	H9, Mel1c	uc010ntg.2	Q13585	OTTHUMG00000024166	ENST00000218316.3:c.199G>A	X.37:g.150348254G>A	ENSP00000218316:p.Val67Met						p.V67M	NM_004224.3	NP_004215.2	Q13585	MTR1L_HUMAN			2	268	+	Acute lymphoblastic leukemia(192;6.56e-05)		67					Q0VGG3|Q3ZAR0	Missense_Mutation	SNP	ENST00000218316.3	37	c.199G>A	CCDS44012.1	.	.	.	.	.	.	.	.	.	.	G	14.99	2.701596	0.48307	.	.	ENSG00000102195	ENST00000535473;ENST00000218316	T	0.35789	1.29	4.26	4.26	0.50523	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.68805	0.3041	H	0.94385	3.53	0.47123	D	0.999324	D;D	0.89917	1.0;0.995	D;D	0.76071	0.987;0.956	T	0.78942	-0.2005	10	0.87932	D	0	-10.9547	13.559	0.61777	0.0:0.0:1.0:0.0	.	20;67	F5H1S3;Q13585	.;MTR1L_HUMAN	M	20;67	ENSP00000218316:V67M	ENSP00000218316:V67M	V	+	1	0	GPR50	150098912	1.000000	0.71417	0.853000	0.33588	0.299000	0.27559	9.311000	0.96282	1.850000	0.53721	0.523000	0.50628	GTG		0.483	GPR50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060874.1	NM_004224		16	437	0	0	0	1	0	16	437					A	150348254	G	A	150348254	3	1	53	1	0	0	0	0	1	0	0	0	6697	1145	40	1	205	1	GPR50	23	150348254	Missense_Mutation	SNP	G	TCGA-EJ-5504-01A-01D-1576-08	43123084	150348254	4922306	67	2816											
ASH1L	55870	broad.mit.edu	37	chr1	155451980	155451980	+	Nonsense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttggaagacttggaaggaggAcaggtagcaatcagctgtgc	12	8	15	6	0	1	1	1	0	0	1	1	5	1	5	0	5	3	3	0	5	4	3			TCGA-EJ-5505-01A-01D-1576-08	TCGA-EJ-5505-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81a818c2-0b58-46fa-a0a7-6f7cf020ba45	7756bd88-7802-41a3-abcb-aed3b0481164	g.chr1:155451980A>T	ENST00000368346.3	-	3	1320	c.681T>A	c.(679-681)tgT>tgA	p.C227*	ASH1L_ENST00000392403.3_Nonsense_Mutation_p.C227*|ASH1L_ENST00000548830.1_3'UTR			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	227					cell-cell signaling (GO:0007267)|DNA packaging (GO:0006323)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|tight junction (GO:0005923)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)	p.C227*(1)		autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			TGGAAGGAGGACAGGTAGCAA	0.453																																						ENST00000368346.3																			1	Substitution - Nonsense(1)	p.C227*(1)	prostate(1)	autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124						c.(679-681)tgT>tgA		ash1 (absent, small, or homeotic)-like (Drosophila)							113	108	110					1																	155451980		2203	4300	6503	SO:0001587	stop_gained	55870				cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|Golgi apparatus|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding	g.chr1:155451980A>T	AB037841	CCDS1113.2	1q22	2013-01-28			ENSG00000116539	ENSG00000116539		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	19088	protein-coding gene	gene with protein product		607999				10860993, 16545939	Standard	NM_018489		Approved	huASH1, ASH1, ASH1L1, KMT2H	uc001fkt.3	Q9NR48	OTTHUMG00000014011	ENST00000368346.3:c.681T>A	1.37:g.155451980A>T	ENSP00000357330:p.Cys227*					ASH1L_ENST00000392403.3_Nonsense_Mutation_p.C227*|ASH1L_ENST00000548830.1_3'UTR	p.C227*			Q9NR48	ASH1L_HUMAN	Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)		3	1320	-	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		227					Q59GP1|Q5T714|Q5T715|Q9P2C7	Nonsense_Mutation	SNP	ENST00000368346.3	37	c.681T>A		.	.	.	.	.	.	.	.	.	.	A	39	7.311850	0.98203	.	.	ENSG00000116539	ENST00000368346;ENST00000392403	.	.	.	4.74	3.61	0.41365	.	0.165528	0.42682	D	0.000673	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.38643	T	0.18	.	7.0265	0.24942	0.7457:0.0:0.2543:0.0	.	.	.	.	X	227	.	ENSP00000357330:C227X	C	-	3	2	ASH1L	153718604	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	2.509000	0.45459	0.844000	0.35094	0.460000	0.39030	TGT		0.453	ASH1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000039400.1	NM_018489		67	181	0	0	0	1	0	67	181					T	155451980	A	T	155451980	4	4	54	1	0	0	0	0	0	1	0	0	1041	273	10	5	8317	5	ASH1L	1	155451980	Nonsense_Mutation	SNP	A	TCGA-EJ-5505-01A-01D-1576-08		155451980	93798641	1	2817											
NUP133	55746	broad.mit.edu	37	chr1	229635527	229635527	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	gcaaggcttggccaatagcgGatagatccttctctggtggc	8	10	13	10	1	1	1	0	0	1	1	3	2	2	2	2	5	1	2	2	5	4	4			TCGA-EJ-5505-01A-01D-1576-08	TCGA-EJ-5505-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81a818c2-0b58-46fa-a0a7-6f7cf020ba45	7756bd88-7802-41a3-abcb-aed3b0481164	g.chr1:229635527G>C	ENST00000261396.3	-	5	643	c.552C>G	c.(550-552)atC>atG	p.I184M	NUP133_ENST00000366678.3_Missense_Mutation_p.I184M|NUP133_ENST00000537506.1_Missense_Mutation_p.I168M	NM_018230.2	NP_060700.2	Q8WUM0	NU133_HUMAN	nucleoporin 133kDa	184					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA export from nucleus (GO:0006406)|nuclear pore organization (GO:0006999)|paraxial mesoderm development (GO:0048339)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)|nuclear pore outer ring (GO:0031080)	nucleocytoplasmic transporter activity (GO:0005487)	p.I184M(1)		NS(1)|breast(7)|endometrium(1)|kidney(6)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(4)	56	Breast(184;0.104)|Ovarian(103;0.249)	Prostate(94;0.167)				GCCAATAGCGGATAGATCCTT	0.453																																						ENST00000261396.3																			1	Substitution - Missense(1)	p.I184M(1)	prostate(1)	NS(1)|breast(7)|endometrium(1)|kidney(6)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(4)	56						c.(550-552)atC>atG		nucleoporin 133kDa							89	86	87					1																	229635527		2203	4300	6503	SO:0001583	missense	55746				carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|nuclear pore organization|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex	nucleocytoplasmic transporter activity|protein binding	g.chr1:229635527G>C		CCDS1579.1	1q42.13	2008-02-05	2002-08-29		ENSG00000069248	ENSG00000069248			18016	protein-coding gene	gene with protein product		607613	"nucleoporin 133kD"			11684705	Standard	NM_018230		Approved	FLJ10814	uc001htn.3	Q8WUM0	OTTHUMG00000039462	ENST00000261396.3:c.552C>G	1.37:g.229635527G>C	ENSP00000261396:p.Ile184Met					NUP133_ENST00000366678.3_Missense_Mutation_p.I184M|NUP133_ENST00000366679.1_Missense_Mutation_p.I184M|NUP133_ENST00000537506.1_Missense_Mutation_p.I168M	p.I184M	NM_018230.2	NP_060700.2	Q8WUM0	NU133_HUMAN			5	643	-	Breast(184;0.104)|Ovarian(103;0.249)	Prostate(94;0.167)	184					B2RAZ8|Q5T8N0|Q9H9W2|Q9NV71|Q9NVC4	Missense_Mutation	SNP	ENST00000261396.3	37	c.552C>G	CCDS1579.1	.	.	.	.	.	.	.	.	.	.	G	17.04	3.285975	0.59867	.	.	ENSG00000069248	ENST00000366681;ENST00000261396;ENST00000366679;ENST00000537506;ENST00000366678	T;T;T;T	0.30448	1.53;1.53;1.53;1.53	5.69	2.43	0.29744	WD40/YVTN repeat-like-containing domain (1);Nucleoporin, Nup133/Nup155-like, N-terminal (1);	0.382752	0.29028	N	0.013361	T	0.31949	0.0813	L	0.36672	1.1	0.31915	N	0.614224	P	0.49253	0.921	P	0.57846	0.828	T	0.40905	-0.9538	10	0.87932	D	0	-7.3494	1.4736	0.02421	0.2052:0.3352:0.3071:0.1524	.	184	Q8WUM0	NU133_HUMAN	M	184;184;184;168;184	ENSP00000261396:I184M;ENSP00000355640:I184M;ENSP00000443496:I168M;ENSP00000355639:I184M	ENSP00000261396:I184M	I	-	3	3	NUP133	227702150	0.990000	0.36364	0.989000	0.46669	0.989000	0.77384	0.374000	0.20501	0.754000	0.32968	0.563000	0.77884	ATC		0.453	NUP133-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095224.1	NM_018230		15	88	0	0	0	1	0	15	88					C	229635527	G	C	229635527	3	2	54	1	0	0	0	0	1	0	0	0	10754	1164	41	5	3006	5	NUP133	1	229635527	Missense_Mutation	SNP	G	TCGA-EJ-5505-01A-01D-1576-08	74183547	229635527	19615094	2	2818											
ATP6V1C2	245973	broad.mit.edu	37	chr2	10918726	10918726	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gctgcgctggctcaaggtgaActtcagtgaagccttcattg	8	11	12	10	1	3	2	3	2	0	0	3	2	3	2	1	2	3	3	1	2	3	3			TCGA-EJ-5505-01A-01D-1576-08	TCGA-EJ-5505-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81a818c2-0b58-46fa-a0a7-6f7cf020ba45	7756bd88-7802-41a3-abcb-aed3b0481164	g.chr2:10918726A>C	ENST00000272238.4	+	12	1101	c.992A>C	c.(991-993)aAc>aCc	p.N331T	ATP6V1C2_ENST00000381661.3_Missense_Mutation_p.N285T	NM_001039362.1	NP_001034451.1	Q8NEY4	VATC2_HUMAN	ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C2	331					ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|positive regulation of Wnt signaling pathway (GO:0030177)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|proton-transporting V-type ATPase, V1 domain (GO:0033180)	hydrogen-exporting ATPase activity, phosphorylative mechanism (GO:0008553)|protein dimerization activity (GO:0046983)	p.N285T(1)|p.N331T(1)		endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.15)|OV - Ovarian serous cystadenocarcinoma(76;0.152)		CTCAAGGTGAACTTCAGTGAA	0.602																																					NSCLC(188;1042 2136 10807 16813 47705)	ENST00000381661.3																			2	Substitution - Missense(2)	p.N285T(1)|p.N331T(1)	prostate(2)	endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19						c.(853-855)aAc>aCc		ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C2							112	105	107					2																	10918726		2203	4300	6503	SO:0001583	missense	245973				ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|proton-transporting V-type ATPase, V1 domain		g.chr2:10918726A>C	AY039759	CCDS1674.1, CCDS42653.1	2p25.1	2010-04-21	2006-01-13		ENSG00000143882	ENSG00000143882		"ATPases / V-type"	18264	protein-coding gene	gene with protein product			"ATPase, H+ transporting, lysosomal 42kD, V1 subunit C isoform 2", "ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C isoform 2"			12384298	Standard	XR_426949		Approved	VMA5, ATP6C2	uc002ras.3	Q8NEY4	OTTHUMG00000090459	ENST00000272238.4:c.992A>C	2.37:g.10918726A>C	ENSP00000272238:p.Asn331Thr					ATP6V1C2_ENST00000272238.4_Missense_Mutation_p.N331T	p.N285T	NM_144583.3	NP_653184.2	Q8NEY4	VATC2_HUMAN		Epithelial(75;0.15)|OV - Ovarian serous cystadenocarcinoma(76;0.152)	11	963	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)		331					Q96EL8	Missense_Mutation	SNP	ENST00000272238.4	37	c.854A>C	CCDS42653.1	.	.	.	.	.	.	.	.	.	.	A	22.9	4.348707	0.82132	.	.	ENSG00000143882	ENST00000272238;ENST00000381661	T;T	0.47177	0.85;0.85	5.74	4.58	0.56647	.	0.049711	0.85682	D	0.000000	T	0.66346	0.2780	M	0.79475	2.455	0.80722	D	1	D;D	0.61697	0.99;0.985	P;D	0.65874	0.894;0.939	T	0.69702	-0.5074	10	0.87932	D	0	-13.7503	11.7819	0.52020	0.931:0.0:0.069:0.0	.	285;331	Q8NEY4-2;Q8NEY4	.;VATC2_HUMAN	T	331;285	ENSP00000272238:N331T;ENSP00000371077:N285T	ENSP00000272238:N331T	N	+	2	0	ATP6V1C2	10836177	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	9.249000	0.95470	1.001000	0.39076	0.402000	0.26972	AAC		0.602	ATP6V1C2-002	KNOWN	not_organism_supported|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000323555.1	NM_144583		21	100	0	0	0	1	0	21	100					C	10918726	A	C	10918726	3	2	54	1	0	0	0	0	1	0	0	0	1181	43	2	5	1034	5	ATP6V1C2	2	10918726	Missense_Mutation	SNP	A	TCGA-EJ-5505-01A-01D-1576-08		10918726	232280647	3	2819											
PTH2R	5746	broad.mit.edu	37	chr2	209358096	209358096	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctcagtgctcaccaccgtGacgcacagcaccagcagcca	10	4	10	17	2	2	1	2	1	0	0	2	1	2	1	4	1	4	5	4	1	0	0			TCGA-EJ-5505-01A-01D-1576-08	TCGA-EJ-5505-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81a818c2-0b58-46fa-a0a7-6f7cf020ba45	7756bd88-7802-41a3-abcb-aed3b0481164	g.chr2:209358096G>T	ENST00000272847.2	+	13	1578	c.1365G>T	c.(1363-1365)gtG>gtT	p.V455V	PTH2R_ENST00000413482.1_3'UTR|AC019185.4_ENST00000424628.1_RNA	NM_005048.2	NP_005039.1	P49190	PTH2R_HUMAN	parathyroid hormone 2 receptor	455					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	parathyroid hormone receptor activity (GO:0004991)	p.V455V(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(21)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43				Epithelial(149;0.0684)|Lung(261;0.0785)|LUSC - Lung squamous cell carcinoma(261;0.0836)	Preotact(DB05829)	TCACCACCGTGACGCACAGCA	0.612																																						ENST00000272847.2																			1	Substitution - coding silent(1)	p.V455V(1)	prostate(1)	breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(21)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43						c.(1363-1365)gtG>gtT		parathyroid hormone 2 receptor							33	32	32					2																	209358096		2203	4300	6503	SO:0001819	synonymous_variant	5746					integral to plasma membrane	parathyroid hormone receptor activity	g.chr2:209358096G>T	BC036811	CCDS2383.1	2q33	2012-08-10	2007-08-24	2007-08-24	ENSG00000144407	ENSG00000144407		"GPCR / Class B : Parathyroid hormone receptors"	9609	protein-coding gene	gene with protein product		601469	"parathyroid hormone receptor 2"	PTHR2			Standard	NM_005048		Approved		uc002vdb.4	P49190	OTTHUMG00000132960	ENST00000272847.2:c.1365G>T	2.37:g.209358096G>T						AC019185.4_ENST00000424628.1_RNA|PTH2R_ENST00000413482.1_3'UTR	p.V455V	NM_005048.2	NP_005039.1	P49190	PTH2R_HUMAN		Epithelial(149;0.0684)|Lung(261;0.0785)|LUSC - Lung squamous cell carcinoma(261;0.0836)	13	1578	+			455					Q8N429	Silent	SNP	ENST00000272847.2	37	c.1365G>T	CCDS2383.1																																																																																				0.612	PTH2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256519.2	NM_005048		3	20	1	0	6.4e-05	1	6.52451e-05	3	20					T	209358096	G	T	209358096	2	4	54	1	0	0	0	0	0	0	0	1	12760	1277	45	5		5	PTH2R	2	209358096	Silent	SNP	G	TCGA-EJ-5505-01A-01D-1576-08	198439370	209358096	33841277	4	2820											
ACCN4	55515	broad.mit.edu	37	chr2	220396564	220396564	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gggcagggggcatgggcagtGgcctggagatcatgctggac	7	6	20	8	0	1	1	1	0	0	1	1	3	1	2	1	7	1	4	1	7	0	0			TCGA-EJ-5505-01A-01D-1576-08	TCGA-EJ-5505-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81a818c2-0b58-46fa-a0a7-6f7cf020ba45	7756bd88-7802-41a3-abcb-aed3b0481164	g.chr2:220396564G>A	ENST00000347842.3	+	2	1062	c.1048G>A	c.(1048-1050)Ggc>Agc	p.G350S	ASIC4_ENST00000358078.4_Missense_Mutation_p.G350S|ASIC4_ENST00000473709.1_3'UTR	NM_182847.2	NP_878267.2	Q96FT7	ASIC4_HUMAN	acid-sensing (proton-gated) ion channel family member 4	350					ion transmembrane transport (GO:0034220)|sodium ion transmembrane transport (GO:0035725)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)	ion channel activity (GO:0005216)|sodium channel activity (GO:0005272)|sodium ion transmembrane transporter activity (GO:0015081)	p.G350S(1)									CATGGGCAGTGGCCTGGAGAT	0.632																																						ENST00000358078.4																			1	Substitution - Missense(1)	p.G350S(1)	prostate(1)								c.(1048-1050)Ggc>Agc		acid-sensing (proton-gated) ion channel family member 4							65	70	69					2																	220396564		2203	4300	6503	SO:0001583	missense	55515					integral to plasma membrane	sodium channel activity|sodium ion transmembrane transporter activity	g.chr2:220396564G>A	AJ271643	CCDS2442.1	2q36.1	2012-02-22	2012-02-22	2012-02-22	ENSG00000072182	ENSG00000072182		"Ion channels / Acid-sensing (proton-gated) ion channels"	21263	protein-coding gene	gene with protein product		606715	"amiloride-sensitive cation channel 4, pituitary", "amiloride-sensitive cation channel family member 4, pituitary"	ACCN4		10852210	Standard	NM_182847		Approved	BNAC4	uc002vma.3	Q96FT7	OTTHUMG00000058928	ENST00000347842.3:c.1048G>A	2.37:g.220396564G>A	ENSP00000326627:p.Gly350Ser					ASIC4_ENST00000473709.1_3'UTR|ASIC4_ENST00000347842.3_Missense_Mutation_p.G350S	p.G350S			Q96FT7	ACCN4_HUMAN			2	1062	+			350					Q53SB7|Q6GMS1|Q6PIN9|Q9NQA4	Missense_Mutation	SNP	ENST00000347842.3	37	c.1048G>A	CCDS2442.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.153706	0.78114	.	.	ENSG00000072182	ENST00000347842;ENST00000358078	T;T	0.72167	-0.63;-0.63	3.07	3.07	0.35406	.	0.000000	0.85682	D	0.000000	D	0.84424	0.5469	M	0.86805	2.84	0.80722	D	1	P;D;D	0.65815	0.81;0.995;0.984	B;D;P	0.68353	0.394;0.957;0.765	D	0.87676	0.2544	10	0.59425	D	0.04	-4.9815	14.9848	0.71339	0.0:0.0:1.0:0.0	.	350;350;350	Q96FT7;Q96FT7-4;Q96FT7-2	ACCN4_HUMAN;.;.	S	350	ENSP00000326627:G350S;ENSP00000350786:G350S	ENSP00000326627:G350S	G	+	1	0	ACCN4	220104808	1.000000	0.71417	0.998000	0.56505	0.995000	0.86356	9.556000	0.98127	2.043000	0.60533	0.561000	0.74099	GGC		0.632	ASIC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000130263.1	NM_018674		51	160	0	0	0	1	0	51	160					A	220396564	G	A	220396564	3	1	54	1	0	0	0	0	1	0	0	0	131	1348	47	3	1054	3	ACCN4	2	220396564	Missense_Mutation	SNP	G	TCGA-EJ-5505-01A-01D-1576-08	11038468	220396564	22802809	5	2821											
DOCK10	55619	broad.mit.edu	37	chr2	225717687	225717687	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctggctatcatacttgaggtGtttggggtaaatataaattt	11	16	10	4	0	1	1	1	1	0	0	1	1	1	1	0	4	1	3	0	4	7	8			TCGA-EJ-5505-01A-01D-1576-08	TCGA-EJ-5505-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81a818c2-0b58-46fa-a0a7-6f7cf020ba45	7756bd88-7802-41a3-abcb-aed3b0481164	g.chr2:225717687G>T	ENST00000258390.7	-	17	2108	c.2041C>A	c.(2041-2043)Cac>Aac	p.H681N	DOCK10_ENST00000409592.3_Missense_Mutation_p.H675N	NM_014689.2	NP_055504.2	Q96BY6	DOC10_HUMAN	dedicator of cytokinesis 10	681	DHR-1.				regulation of cell migration (GO:0030334)|small GTPase mediated signal transduction (GO:0007264)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.H681N(2)		NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	87		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)		TACTTGAGGTGTTTGGGGTAA	0.338																																						ENST00000409592.3																			2	Substitution - Missense(2)	p.H681N(2)	prostate(2)	NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	87						c.(2023-2025)Cac>Aac		dedicator of cytokinesis 10							132	127	129					2																	225717687		1825	4075	5900	SO:0001583	missense	55619						GTP binding	g.chr2:225717687G>T	AB014594	CCDS46528.1, CCDS74661.1	2q36.3	2013-01-10			ENSG00000135905	ENSG00000135905		"Pleckstrin homology (PH) domain containing"	23479	protein-coding gene	gene with protein product	"zizimin3"	611518				12432077	Standard	NM_014689		Approved	ZIZ3, KIAA0694	uc010fwz.1	Q96BY6	OTTHUMG00000153428	ENST00000258390.7:c.2041C>A	2.37:g.225717687G>T	ENSP00000258390:p.His681Asn					DOCK10_ENST00000258390.7_Missense_Mutation_p.H681N	p.H675N			Q96BY6	DOC10_HUMAN		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)	17	2136	-		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)	681			DHR-1.		B3FL70|O75178|Q9NW06|Q9NXI8	Missense_Mutation	SNP	ENST00000258390.7	37	c.2023C>A	CCDS46528.1	.	.	.	.	.	.	.	.	.	.	G	18.87	3.716253	0.68844	.	.	ENSG00000135905	ENST00000409592;ENST00000258390	T;T	0.13538	2.58;2.58	5.28	5.28	0.74379	.	0.000000	0.85682	D	0.000000	T	0.33876	0.0878	L	0.53617	1.68	0.51767	D	0.999933	D;D	0.89917	1.0;0.996	D;D	0.87578	0.998;0.969	T	0.00852	-1.1540	10	0.27082	T	0.32	.	19.2785	0.94042	0.0:0.0:1.0:0.0	.	681;675	Q96BY6;B3FL70	DOC10_HUMAN;.	N	675;681	ENSP00000386694:H675N;ENSP00000258390:H681N	ENSP00000258390:H681N	H	-	1	0	DOCK10	225425931	1.000000	0.71417	0.998000	0.56505	0.544000	0.35116	9.420000	0.97426	2.635000	0.89317	0.453000	0.30009	CAC		0.338	DOCK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331246.1			29	124	1	0	3.80469e-20	1	4.2904e-20	29	124					T	225717687	G	T	225717687	3	4	54	1	0	0	0	0	1	0	0	0	4685	1377	48	5	4679	5	DOCK10	2	225717687	Missense_Mutation	SNP	G	TCGA-EJ-5505-01A-01D-1576-08	5321123	225717687	17481686	6	2822											
DUSP7	1849	broad.mit.edu	37	chr3	52088081	52088081	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgggtaggttgggtgtgacaTtgaggatatacttgatgcca	9	13	15	4	0	0	3	0	3	0	0	0	4	0	4	1	4	2	2	1	4	3	6	rs550638572		TCGA-EJ-5505-01A-01D-1576-08	TCGA-EJ-5505-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81a818c2-0b58-46fa-a0a7-6f7cf020ba45	7756bd88-7802-41a3-abcb-aed3b0481164	g.chr3:52088081T>C	ENST00000495880.1	-	2	1010	c.827A>G	c.(826-828)aAt>aGt	p.N276S	DUSP7_ENST00000296483.6_Missense_Mutation_p.N225S			Q16829	DUS7_HUMAN	dual specificity phosphatase 7	276					inactivation of MAPK activity (GO:0000188)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of MAP kinase activity (GO:0043407)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	MAP kinase tyrosine/serine/threonine phosphatase activity (GO:0017017)|protein tyrosine phosphatase activity (GO:0004725)	p.N225S(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(1)	17				BRCA - Breast invasive adenocarcinoma(193;5.14e-05)|Kidney(197;0.000534)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		GGGTGTGACATTGAGGATATA	0.582													T|||	1	0.000199681	0	0	5008	,	,		22265	0		0	False		,,,				2504	0.001					ENST00000495880.1																			1	Substitution - Missense(1)	p.N225S(1)	prostate(1)	breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(1)	17						c.(826-828)aAt>aGt		dual specificity phosphatase 7							341	299	313					3																	52088081		2203	4300	6503	SO:0001583	missense	1849				inactivation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	MAP kinase tyrosine/serine/threonine phosphatase activity|protein binding|protein tyrosine phosphatase activity	g.chr3:52088081T>C	X93921	CCDS33766.1, CCDS33766.2	3p21	2011-06-09			ENSG00000164086	ENSG00000164086		"Protein tyrosine phosphatases / Class I Cys-based PTPs : MAP kinase phosphatases"	3073	protein-coding gene	gene with protein product		602749				8626780, 9205128	Standard	NM_001947		Approved	MKP-X, PYST2	uc003dct.3	Q16829	OTTHUMG00000157819	ENST00000495880.1:c.827A>G	3.37:g.52088081T>C	ENSP00000417183:p.Asn276Ser					DUSP7_ENST00000296483.6_Missense_Mutation_p.N225S	p.N276S			Q16829	DUS7_HUMAN		BRCA - Breast invasive adenocarcinoma(193;5.14e-05)|Kidney(197;0.000534)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	2	1010	-			276					Q2M3J7|Q8NFJ0	Missense_Mutation	SNP	ENST00000495880.1	37	c.827A>G	CCDS33766.2	.	.	.	.	.	.	.	.	.	.	T	24.4	4.532573	0.85812	.	.	ENSG00000164086	ENST00000495880;ENST00000296483;ENST00000469623	D;D;D	0.89196	-2.48;-2.48;-2.48	5.42	5.42	0.78866	Dual specificity phosphatase, catalytic domain (1);Dual specificity phosphatase, subgroup, catalytic domain (2);	0.000000	0.85682	D	0.000000	D	0.92596	0.7648	L	0.49455	1.56	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.93407	0.6765	10	0.87932	D	0	.	15.1265	0.72486	0.0:0.0:0.0:1.0	.	225;276	Q16829-2;Q16829	.;DUS7_HUMAN	S	276;225;209	ENSP00000417183:N276S;ENSP00000296483:N225S;ENSP00000418566:N209S	ENSP00000296483:N225S	N	-	2	0	DUSP7	52063121	1.000000	0.71417	0.990000	0.47175	0.671000	0.39405	7.974000	0.88039	2.044000	0.60594	0.448000	0.29417	AAT		0.582	DUSP7-001	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000349697.1	NM_001947		47	169	0	0	0	1	0	47	169					C	52088081	T	C	52088081	3	2	54	1	0	0	0	0	1	0	0	0	4830	1493	52	4	440	4	DUSP7	3	52088081	Missense_Mutation	SNP	T	TCGA-EJ-5505-01A-01D-1576-08		52088081	145934349	7	2823											
ZBBX	79740	broad.mit.edu	37	chr3	167068219	167068219	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aagccatacctgcaaaagagTtgttctgtggagctttagtg	11	12	11	7	0	1	1	0	0	1	1	1	2	1	2	2	1	4	4	2	1	5	5			TCGA-EJ-5505-01A-01D-1576-08	TCGA-EJ-5505-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81a818c2-0b58-46fa-a0a7-6f7cf020ba45	7756bd88-7802-41a3-abcb-aed3b0481164	g.chr3:167068219T>C	ENST00000392766.2	-	9	857	c.517A>G	c.(517-519)Act>Gct	p.T173A	ZBBX_ENST00000455345.2_Missense_Mutation_p.T173A|ZBBX_ENST00000392767.2_Missense_Mutation_p.T173A|ZBBX_ENST00000469220.1_Intron|ZBBX_ENST00000307529.5_Missense_Mutation_p.T173A|ZBBX_ENST00000392764.1_Missense_Mutation_p.T144A	NM_001199201.1|NM_024687.3	NP_001186130.1|NP_078963.2	A8MT70	ZBBX_HUMAN	zinc finger, B-box domain containing	173						intracellular (GO:0005622)	zinc ion binding (GO:0008270)	p.T173A(2)		NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(9)|liver(1)|lung(38)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	70						TGCAAAAGAGTTGTTCTGTGG	0.328																																						ENST00000392766.2																			2	Substitution - Missense(2)	p.T173A(2)	prostate(2)	NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(9)|liver(1)|lung(38)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	70						c.(517-519)Act>Gct		zinc finger, B-box domain containing							173	170	171					3																	167068219		1820	4073	5893	SO:0001583	missense	79740					intracellular	zinc ion binding	g.chr3:167068219T>C	AK026702	CCDS3199.2, CCDS56295.1, CCDS56296.1	3q26.1	2010-03-23			ENSG00000169064	ENSG00000169064			26245	protein-coding gene	gene with protein product						12477932	Standard	NM_024687		Approved	FLJ23049	uc011bpc.2	A8MT70	OTTHUMG00000133560	ENST00000392766.2:c.517A>G	3.37:g.167068219T>C	ENSP00000376519:p.Thr173Ala					ZBBX_ENST00000469220.1_Intron|ZBBX_ENST00000307529.5_Missense_Mutation_p.T173A|ZBBX_ENST00000455345.2_Missense_Mutation_p.T173A|ZBBX_ENST00000392764.1_Missense_Mutation_p.T144A|ZBBX_ENST00000392767.2_Missense_Mutation_p.T173A	p.T173A	NM_001199201.1|NM_024687.3	NP_001186130.1|NP_078963.2	A8MT70	ZBBX_HUMAN			9	857	-			173					A8MV69|B3KSC1|B5MDJ6|F2Z370|Q9H5T8	Missense_Mutation	SNP	ENST00000392766.2	37	c.517A>G	CCDS3199.2	.	.	.	.	.	.	.	.	.	.	T	15.26	2.782233	0.49891	.	.	ENSG00000169064	ENST00000392766;ENST00000392767;ENST00000455345;ENST00000307529;ENST00000392764	T;T;T;T;T	0.42513	0.97;0.97;0.97;0.97;0.97	5.54	5.54	0.83059	Zinc finger, B-box (1);	0.000000	0.32952	U	0.005454	T	0.49338	0.1551	N	0.22421	0.69	0.29918	N	0.822942	D;D	0.76494	0.999;0.999	D;D	0.87578	0.996;0.998	T	0.49826	-0.8898	10	0.36615	T	0.2	-12.9964	13.6397	0.62243	0.0:0.0:0.0:1.0	.	173;173	A8MT70-2;A8MT70	.;ZBBX_HUMAN	A	173;173;173;173;144	ENSP00000376519:T173A;ENSP00000376520:T173A;ENSP00000390232:T173A;ENSP00000305065:T173A;ENSP00000376517:T144A	ENSP00000305065:T173A	T	-	1	0	ZBBX	168550913	1.000000	0.71417	1.000000	0.80357	0.336000	0.28762	2.686000	0.46968	2.101000	0.63845	0.377000	0.23210	ACT		0.328	ZBBX-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000257657.3	NM_024687		75	310	0	0	0	1	0	75	310					C	167068219	T	C	167068219	3	2	54	1	0	0	0	0	1	0	0	0	17513	1725	60	4	1937	4	ZBBX	3	167068219	Missense_Mutation	SNP	T	TCGA-EJ-5505-01A-01D-1576-08	114980138	167068219	30954211	8	2824											
ARPM1	84517	broad.mit.edu	37	chr3	169486066	169486066	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cacggcttcagctttaggttAtagtcatagatatgcttcca	10	14	8	9	1	2	1	2	0	0	1	3	1	3	1	1	2	2	4	1	2	5	8			TCGA-EJ-5505-01A-01D-1576-08	TCGA-EJ-5505-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81a818c2-0b58-46fa-a0a7-6f7cf020ba45	7756bd88-7802-41a3-abcb-aed3b0481164	g.chr3:169486066A>G	ENST00000330368.2	-	2	647	c.273T>C	c.(271-273)taT>taC	p.Y91Y	RP11-816J6.3_ENST00000602879.1_RNA	NM_032487.4	NP_115876.3	Q9BYD9	ACTT3_HUMAN	actin-related protein T3	91						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|male germ cell nucleus (GO:0001673)		p.Y91Y(1)									GCTTTAGGTTATAGTCATAGA	0.473																																						ENST00000330368.2																			1	Substitution - coding silent(1)	p.Y91Y(1)	prostate(1)								c.(271-273)taT>taC		actin-related protein T3							68	66	67					3																	169486066		2203	4300	6503	SO:0001819	synonymous_variant	84517					cytoplasm|cytoskeleton		g.chr3:169486066A>G	AK055346	CCDS3206.1	3q26.2	2012-04-10			ENSG00000184378	ENSG00000184378			24022	protein-coding gene	gene with protein product	"actin related protein M1"	608534				11750065, 18692047	Standard	NM_032487		Approved	ARPM1	uc003ffs.2	Q9BYD9		ENST00000330368.2:c.273T>C	3.37:g.169486066A>G							p.Y91Y	NM_032487.4	NP_115876.3	Q9BYD9	ARPM1_HUMAN			2	647	-			91					Q96IS0|Q96NJ0	Silent	SNP	ENST00000330368.2	37	c.273T>C	CCDS3206.1																																																																																				0.473	ACTRT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467797.1	NM_032487		43	64	0	0	0	1	0	43	64					G	169486066	A	G	169486066	2	3	54	1	0	0	0	0	0	0	0	1	976	456	16	4		4	ARPM1	3	169486066	Silent	SNP	A	TCGA-EJ-5505-01A-01D-1576-08	2417847	169486066	28536364	9	2825											
DCHS2	54798	broad.mit.edu	37	chr4	155256174	155256174	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gcattaatgacagctgtgagCccaccaccgtcttgagcaga	11	8	10	12	1	1	4	0	3	1	1	1	4	1	4	3	0	3	3	3	0	1	2			TCGA-EJ-5505-01A-01D-1576-08	TCGA-EJ-5505-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81a818c2-0b58-46fa-a0a7-6f7cf020ba45	7756bd88-7802-41a3-abcb-aed3b0481164	g.chr4:155256174C>G	ENST00000357232.4	-	8	1061	c.1062G>C	c.(1060-1062)ggG>ggC	p.G354G	DCHS2_ENST00000507542.1_5'UTR|DCHS2_ENST00000339452.1_Silent_p.G853G	NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	354	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.G853G(1)|p.G354G(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		CAGCTGTGAGCCCACCACCGT	0.423																																						ENST00000357232.3																			2	Substitution - coding silent(2)	p.G853G(1)|p.G354G(1)	prostate(2)	NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176						c.(1060-1062)ggG>ggC		dachsous cadherin-related 2							104	105	105					4																	155256174		2203	4300	6503	SO:0001819	synonymous_variant	54798				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:155256174C>G	BC140919	CCDS3785.1, CCDS47150.1	4q32.1	2014-06-04	2013-10-04	2004-09-03		ENSG00000197410		"Cadherins / Cadherin-related"	23111	protein-coding gene	gene with protein product	"cadherin-related family member 7"	612486	"cadherin-like 27", "dachsous 2 (Drosophila)"	CDH27, PCDH23		15003449	Standard	NM_017639		Approved	CDHJ, FLJ20047, PCDHJ, CDHR7	uc003inw.2	Q6V1P9		ENST00000357232.4:c.1062G>C	4.37:g.155256174C>G						DCHS2_ENST00000507542.1_5'UTR|DCHS2_ENST00000339452.1_Silent_p.G853G	p.G354G	NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN		LUSC - Lung squamous cell carcinoma(193;0.107)	8	1061	-	all_hematologic(180;0.208)	Renal(120;0.0854)	354			Cadherin 2.		B2RU14|E9PC11|Q4W5P9|Q6ZS61|Q9NXU8	Silent	SNP	ENST00000357232.4	37	c.1062G>C	CCDS3785.1																																																																																				0.423	DCHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365281.2	NM_001142552		28	132	0	0	0	1	0	28	132					G	155256174	C	G	155256174	2	3	54	1	0	0	0	0	0	0	0	1	4288	726	26	5		5	DCHS2	4	155256174	Silent	SNP	C	TCGA-EJ-5505-01A-01D-1576-08		155256174	35898102	10	2826											
HSPA1B	3304	broad.mit.edu	37	chr6	31797488	31797488	+	Silent	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggacgccaacaccttggcCgagaaggacgagtttgagca	11	6	13	11	3	0	2	0	1	0	1	0	6	0	4	3	3	2	2	3	3	2	2			TCGA-EJ-5505-01A-01D-1576-08	TCGA-EJ-5505-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81a818c2-0b58-46fa-a0a7-6f7cf020ba45	7756bd88-7802-41a3-abcb-aed3b0481164	g.chr6:31797488C>G	ENST00000375650.3	+	1	1977	c.1761C>G	c.(1759-1761)gcC>gcG	p.A587A	HSPA1B_ENST00000545241.1_Silent_p.A496A	NM_005346.4	NP_005337.2	P08107	HSP71_HUMAN	heat shock 70kDa protein 1B	587					ATP catabolic process (GO:0006200)|cellular heat acclimation (GO:0070370)|cellular response to heat (GO:0034605)|gene expression (GO:0010467)|mRNA catabolic process (GO:0006402)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell death (GO:0060548)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of inclusion body assembly (GO:0090084)|negative regulation of protein ubiquitination (GO:0031397)|positive regulation of erythrocyte differentiation (GO:0045648)|protein refolding (GO:0042026)|response to unfolded protein (GO:0006986)|RNA metabolic process (GO:0016070)	aggresome (GO:0016235)|blood microparticle (GO:0072562)|centriole (GO:0005814)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|inclusion body (GO:0016234)|mitochondrion (GO:0005739)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|ribonucleoprotein complex (GO:0030529)|vesicle (GO:0031982)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled (GO:0042623)|double-stranded RNA binding (GO:0003725)|enzyme binding (GO:0019899)|G-protein coupled receptor binding (GO:0001664)|heat shock protein binding (GO:0031072)|poly(A) RNA binding (GO:0044822)|protein binding involved in protein folding (GO:0044183)|protein N-terminus binding (GO:0047485)|ubiquitin protein ligase binding (GO:0031625)|unfolded protein binding (GO:0051082)|virus receptor activity (GO:0001618)	p.A587A(1)		breast(1)|large_intestine(1)|prostate(1)	3						ACACCTTGGCCGAGAAGGACG	0.597																																						ENST00000375650.3																			1	Substitution - coding silent(1)	p.A587A(1)	prostate(1)	breast(1)|large_intestine(1)|prostate(1)	3						c.(1759-1761)gcC>gcG		heat shock 70kDa protein 1B							50	39	43					6																	31797488		1650	3394	5044	SO:0001819	synonymous_variant	3304				anti-apoptosis|mRNA catabolic process|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of inclusion body assembly|protein refolding|response to unfolded protein	cytosol|endoplasmic reticulum|inclusion body|mitochondrion|nuclear speck|perinuclear region of cytoplasm|ribonucleoprotein complex	ATP binding|protein binding involved in protein folding|protein N-terminus binding|receptor activity|ubiquitin protein ligase binding|unfolded protein binding	g.chr6:31797488C>G		CCDS34415.1	6p21.3	2011-09-02	2002-08-29		ENSG00000204388	ENSG00000204388		"Heat shock proteins / HSP70"	5233	protein-coding gene	gene with protein product		603012	"heat shock 70kD protein 1B"			1700760	Standard	NM_005346		Approved	HSP70-2	uc003nxk.2	P08107	OTTHUMG00000031202	ENST00000375650.3:c.1761C>G	6.37:g.31797488C>G						HSPA1B_ENST00000545241.1_Silent_p.A496A	p.A587A	NM_005346.4	NP_005337.2	P08107	HSP71_HUMAN			1	1977	+			587					B4E3B6|P19790|Q5JQI4|Q5SP17|Q9UQL9|Q9UQM0	Silent	SNP	ENST00000375650.3	37	c.1761C>G	CCDS34415.1																																																																																				0.597	HSPA1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076402.2			9	48	0	0	0	1	0	9	48					G	31797488	C	G	31797488	2	3	54	1	0	0	0	0	0	0	0	1	7409	639	23	5		5	HSPA1B	6	31797488	Silent	SNP	C	TCGA-EJ-5505-01A-01D-1576-08		31797488	139317579	11	2827											
PI16	221476	broad.mit.edu	37	chr6	36927000	36927000	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccacaacaaggagcgcgggcGccgcggcgagaatctgttcg	9	4	15	13	7	1	1	0	0	1	1	2	3	1	2	2	3	2	1	2	3	3	1	rs139393851	byFrequency	TCGA-EJ-5505-01A-01D-1576-08	TCGA-EJ-5505-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81a818c2-0b58-46fa-a0a7-6f7cf020ba45	7756bd88-7802-41a3-abcb-aed3b0481164	g.chr6:36927000G>A	ENST00000373674.3	+	2	579	c.251G>A	c.(250-252)cGc>cAc	p.R84H		NM_001199159.1|NM_153370.2	NP_001186088.1|NP_699201.2	Q6UXB8	PI16_HUMAN	peptidase inhibitor 16	84	SCP.				negative regulation of cell growth involved in cardiac muscle cell development (GO:0061052)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	peptidase inhibitor activity (GO:0030414)	p.R84H(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(13)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						GAGCGCGGGCGCCGCGGCGAG	0.667													G|||	2	0.000399361	0.0015	0	5008	,	,		16075	0		0	False		,,,				2504	0					ENST00000373674.3																			1	Substitution - Missense(1)	p.R84H(1)	prostate(1)	breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(13)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						c.(250-252)cGc>cAc		peptidase inhibitor 16		G	HIS/ARG,HIS/ARG	1,4393		0,1,2196	25	22	23		251,251	1.5	0.3	6	dbSNP_134	23	0,8594		0,0,4297	no	missense,missense	PI16	NM_001199159.1,NM_153370.2	29,29	0,1,6493	AA,AG,GG		0.0,0.0228,0.0077	probably-damaging,probably-damaging	84/464,84/464	36927000	1,12987	2197	4297	6494	SO:0001583	missense	221476					extracellular region|integral to membrane	peptidase inhibitor activity	g.chr6:36927000G>A		CCDS34440.1	6p21.31	2014-01-28	2005-08-17		ENSG00000164530	ENSG00000164530			21245	protein-coding gene	gene with protein product	"microseminoprotein, beta-binding protein"		"protease inhibitor 16"				Standard	NM_001199159		Approved	MGC45378, dJ90K10.5, MSMBBP	uc003ona.3	Q6UXB8	OTTHUMG00000014611	ENST00000373674.3:c.251G>A	6.37:g.36927000G>A	ENSP00000362778:p.Arg84His						p.R84H	NM_001199159.1|NM_153370.2	NP_001186088.1|NP_699201.2	Q6UXB8	PI16_HUMAN			2	579	+			84					Q6ZVG9|Q8IYL8|Q8NBK0|Q8TCB8	Missense_Mutation	SNP	ENST00000373674.3	37	c.251G>A	CCDS34440.1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.261781	0.80358	2.28E-4	0.0	ENSG00000164530	ENST00000536757;ENST00000373674	T	0.09723	2.95	5.29	1.51	0.23008	CAP domain (3);	0.171941	0.39407	N	0.001376	T	0.06142	0.0159	L	0.58969	1.84	0.09310	N	0.999999	D;P	0.53462	0.96;0.906	P;B	0.52627	0.704;0.415	T	0.18903	-1.0322	10	0.51188	T	0.08	.	2.2841	0.04122	0.2166:0.1304:0.5183:0.1346	.	84;84	Q6UXB8;Q6UXB8-2	PI16_HUMAN;.	H	84	ENSP00000362778:R84H	ENSP00000362778:R84H	R	+	2	0	PI16	37034978	0.870000	0.30015	0.266000	0.24541	0.991000	0.79684	1.312000	0.33574	-0.012000	0.14223	0.511000	0.50034	CGC		0.667	PI16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040380.1	NM_153370		9	14	0	0	0	1	0	9	14					A	36927000	G	A	36927000	3	1	54	1	0	0	0	0	1	0	0	0	11869	1087	38	1	257	1	PI16	6	36927000	Missense_Mutation	SNP	G	TCGA-EJ-5505-01A-01D-1576-08	5129512	36927000	134188067	12	2828											
EFHC1	114327	broad.mit.edu	37	chr6	52288788	52288803	+	Frame_Shift_Del	DEL	CTATGCAATTGTTCGA	CTATGCAATTGTTCGA	-																															acgctgagctacaggaacggCtatgcaattgttcgacgtcc																								rs557467591|rs202095470		TCGA-EJ-5505-01A-01D-1576-08	TCGA-EJ-5505-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81a818c2-0b58-46fa-a0a7-6f7cf020ba45	7756bd88-7802-41a3-abcb-aed3b0481164	g.chr6:52288788_52288803delCTATGCAATTGTTCGA	ENST00000371068.5	+	2	211_226	c.108_123delCTATGCAATTGTTCGA	c.(106-123)ggctatgcaattgttcgafs	p.GYAIVR36fs	EFHC1_ENST00000433625.2_5'UTR|EFHC1_ENST00000491749.1_3'UTR|EFHC1_ENST00000538167.1_Frame_Shift_Del_p.GYAIVR17fs	NM_018100.3	NP_060570.2	Q5JVL4	EFHC1_HUMAN	EF-hand domain (C-terminal) containing 1	36						axoneme (GO:0005930)|neuronal cell body (GO:0043025)	calcium ion binding (GO:0005509)|protein C-terminus binding (GO:0008022)			breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(8)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	27	Lung NSC(77;0.109)					ACAGGAACGGCTATGCAATTGTTCGACGTCCAACAG	0.458																																						ENST00000371068.5																			0				breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(8)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	27						c.(106-123)ggfs		EF-hand domain (C-terminal) containing 1																																				SO:0001589	frameshift_variant	114327					axoneme|neuronal cell body	calcium ion binding|protein C-terminus binding	g.chr6:52288788_52288803delCTATGCAATTGTTCGA	AK001328	CCDS4942.1, CCDS55021.1	6p12.3	2014-02-04			ENSG00000096093	ENSG00000096093		"EF-hand domain containing"	16406	protein-coding gene	gene with protein product	"myoclonin-1"	608815	"epilepsy, juvenile myoclonic 1"	EJM1, EJM		15258581	Standard	NM_018100		Approved	FLJ10466	uc003pap.4	Q5JVL4	OTTHUMG00000014848	ENST00000371068.5:c.108_123delCTATGCAATTGTTCGA	6.37:g.52288788_52288803delCTATGCAATTGTTCGA	ENSP00000360107:p.Gly36fs					EFHC1_ENST00000433625.2_5'UTR|EFHC1_ENST00000538167.1_Frame_Shift_Del_p.GYAIVR17fs|EFHC1_ENST00000491749.1_3'UTR	p.GYAIVR36fs	NM_018100.3	NP_060570.2	Q5JVL4	EFHC1_HUMAN			2	211_226	+	Lung NSC(77;0.109)		36					B4DMU3|F5GZD8|Q5XKM4|Q6E1U7|Q6E1U8|Q8WUL2|Q9NVW6	Frame_Shift_Del	DEL	ENST00000371068.5	37	c.108_123delCTATGCAATTGTTCGA	CCDS4942.1																																																																																				0.458	EFHC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040905.2	NM_018100		27	164						27	164	---	---	---	---	-	52288803	CTATGCAATTGTTCGA	-	52288788	7	5	54	1	0	1	0	1	0	0	0	0	4946	784	28	0	124	0	EFHC1	6	52288788	Frame_Shift_Del	DEL	CTATGCAATTGTTCGA	TCGA-EJ-5505-01A-01D-1576-08	15361788	52288788	118826279	13	2829											
RAC1	5879	broad.mit.edu	37	chr7	6431629	6431629	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttatgggatacagctggacAagaagattatgacagattac	15	10	10	6	0	0	4	0	1	0	3	0	6	0	6	0	2	3	1	0	2	6	4			TCGA-EJ-5505-01A-01D-1576-08	TCGA-EJ-5505-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81a818c2-0b58-46fa-a0a7-6f7cf020ba45	7756bd88-7802-41a3-abcb-aed3b0481164	g.chr7:6431629A>G	ENST00000348035.4	+	3	395	c.182A>G	c.(181-183)cAa>cGa	p.Q61R	RAC1_ENST00000488373.1_3'UTR|RAC1_ENST00000356142.4_Missense_Mutation_p.Q61R	NM_006908.4	NP_008839.2	P63000	RAC1_HUMAN	ras-related C3 botulinum toxin substrate 1 (rho family, small GTP binding protein Rac1)	61					actin cytoskeleton organization (GO:0030036)|actin filament polymerization (GO:0030041)|anatomical structure arrangement (GO:0048532)|anatomical structure morphogenesis (GO:0009653)|apoptotic signaling pathway (GO:0097190)|auditory receptor cell morphogenesis (GO:0002093)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|bone resorption (GO:0045453)|cell adhesion (GO:0007155)|cell motility (GO:0048870)|cell proliferation (GO:0008283)|cell-cell junction organization (GO:0045216)|cell-matrix adhesion (GO:0007160)|cellular component movement (GO:0006928)|cerebral cortex radially oriented cell migration (GO:0021799)|cochlea morphogenesis (GO:0090103)|dendrite morphogenesis (GO:0048813)|dopaminergic neuron differentiation (GO:0071542)|embryonic olfactory bulb interneuron precursor migration (GO:0021831)|engulfment of apoptotic cell (GO:0043652)|epithelial cell morphogenesis (GO:0003382)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|G-protein coupled receptor signaling pathway (GO:0007186)|hyperosmotic response (GO:0006972)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|lamellipodium assembly (GO:0030032)|localization within membrane (GO:0051668)|mast cell chemotaxis (GO:0002551)|negative regulation of interleukin-23 production (GO:0032707)|negative regulation of receptor-mediated endocytosis (GO:0048261)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA replication (GO:0045740)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of lamellipodium assembly (GO:0010592)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rho protein signal transduction (GO:0035025)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|protein localization to plasma membrane (GO:0072659)|regulation of cell migration (GO:0030334)|regulation of defense response to virus by virus (GO:0050690)|regulation of hydrogen peroxide metabolic process (GO:0010310)|regulation of respiratory burst (GO:0060263)|response to wounding (GO:0009611)|ruffle assembly (GO:0097178)|ruffle organization (GO:0031529)|semaphorin-plexin signaling pathway (GO:0071526)|small GTPase mediated signal transduction (GO:0007264)|substrate adhesion-dependent cell spreading (GO:0034446)|T cell costimulation (GO:0031295)|viral process (GO:0016032)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|extrinsic component of plasma membrane (GO:0019897)|focal adhesion (GO:0005925)|Golgi membrane (GO:0000139)|lamellipodium (GO:0030027)|membrane (GO:0016020)|phagocytic cup (GO:0001891)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|trans-Golgi network (GO:0005802)	enzyme binding (GO:0019899)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|Rho GDP-dissociation inhibitor binding (GO:0051022)|thioesterase binding (GO:0031996)	p.Q61R(1)		cervix(1)|endometrium(1)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	8		Ovarian(82;0.0776)		UCEC - Uterine corpus endometrioid carcinoma (126;0.104)	Dextromethorphan(DB00514)	ACAGCTGGACAAGAAGATTAT	0.403																																						ENST00000348035.4																			1	Substitution - Missense(1)	p.Q61R(1)	prostate(1)	cervix(1)|endometrium(1)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	8						c.(181-183)cAa>cGa		ras-related C3 botulinum toxin substrate 1 (rho family, small GTP binding protein Rac1)	Pravastatin(DB00175)|Simvastatin(DB00641)						121	117	118					7																	6431629		2203	4298	6501	SO:0001583	missense	5879				actin filament polymerization|apoptosis|axon guidance|cell motility|cell-matrix adhesion|induction of apoptosis by extracellular signals|inflammatory response|lamellipodium assembly|localization within membrane|negative regulation of interleukin-23 production|negative regulation of receptor-mediated endocytosis|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of lamellipodium assembly|positive regulation of Rho protein signal transduction|regulation of cell migration|regulation of defense response to virus by virus|regulation of hydrogen peroxide metabolic process|regulation of respiratory burst|ruffle organization|small GTPase mediated signal transduction|T cell costimulation|viral reproduction	cytosol|melanosome|plasma membrane	GTP binding|GTP-dependent protein binding|GTPase activity|thioesterase binding	g.chr7:6431629A>G	AJ132695	CCDS5348.1, CCDS5349.1	7p22	2014-01-30			ENSG00000136238	ENSG00000136238		"Endogenous ligands"	9801	protein-coding gene	gene with protein product		602048				2674130, 10597294	Standard	NM_006908		Approved	TC-25, p21-Rac1, Rac-1	uc003spw.3	P63000	OTTHUMG00000023540	ENST00000348035.4:c.182A>G	7.37:g.6431629A>G	ENSP00000258737:p.Gln61Arg					RAC1_ENST00000356142.4_Missense_Mutation_p.Q61R|RAC1_ENST00000488373.1_3'UTR	p.Q61R	NM_006908.4	NP_008839.2	P63000	RAC1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.104)	3	395	+		Ovarian(82;0.0776)	61					O95501|P15154|Q3Y4D3|Q5JAA8|Q9BTB4	Missense_Mutation	SNP	ENST00000348035.4	37	c.182A>G	CCDS5348.1	.	.	.	.	.	.	.	.	.	.	A	27.1	4.802800	0.90623	.	.	ENSG00000136238	ENST00000348035;ENST00000356142	D;D	0.83673	-1.75;-1.75	5.29	5.29	0.74685	Small GTP-binding protein domain (1);	0.109676	0.64402	D	0.000006	D	0.93174	0.7826	M	0.94021	3.485	0.80722	D	1	D;D	0.71674	0.998;0.998	D;D	0.79108	0.992;0.988	D	0.94891	0.8048	10	0.87932	D	0	.	15.5269	0.75919	1.0:0.0:0.0:0.0	.	61;61	P63000;A4D2P0	RAC1_HUMAN;.	R	61	ENSP00000258737:Q61R;ENSP00000348461:Q61R	ENSP00000258737:Q61R	Q	+	2	0	RAC1	6398154	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.283000	0.95860	2.128000	0.65567	0.528000	0.53228	CAA		0.403	RAC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000242868.2	NM_018890		12	226	0	0	0	1	0	12	226					G	6431629	A	G	6431629	3	3	54	1	0	0	0	0	1	0	0	0	12974	130	5	4	192	4	RAC1	7	6431629	Missense_Mutation	SNP	A	TCGA-EJ-5505-01A-01D-1576-08		6431629	152707034	14	2830											
BRAF	673	broad.mit.edu	37	chr7	140501299	140501299	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cacatgtttgacagcggaaaCcctggaaaagcagctttcga	13	8	10	10	2	0	1	0	1	0	0	1	4	0	3	1	2	4	3	1	2	3	2			TCGA-EJ-5505-01A-01D-1576-08	TCGA-EJ-5505-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81a818c2-0b58-46fa-a0a7-6f7cf020ba45	7756bd88-7802-41a3-abcb-aed3b0481164	g.chr7:140501299C>A	ENST00000288602.6	-	6	833	c.773G>T	c.(772-774)gGt>gTt	p.G258V		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	258					activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.G258V(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	ACAGCGGAAACCCTGGAAAAG	0.368		61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	ENST00000288602.6		61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	1	Substitution - Missense(1)	p.G258V(1)	prostate(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(772-774)gGt>gTt		v-raf murine sarcoma viral oncogene homolog B	Sorafenib(DB00398)						57	54	55					7																	140501299		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140501299C>A	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.773G>T	7.37:g.140501299C>A	ENSP00000288602:p.Gly258Val						p.G258V	NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN			6	833	-	Melanoma(164;0.00956)		258					A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.773G>T	CCDS5863.1	.	.	.	.	.	.	.	.	.	.	C	28.0	4.878902	0.91740	.	.	ENSG00000157764	ENST00000288602	D	0.94417	-3.42	5.43	5.43	0.79202	Protein kinase C-like, phorbol ester/diacylglycerol binding (4);Diacylglycerol/phorbol-ester binding (1);	0.000000	0.85682	D	0.000000	D	0.98460	0.9487	H	0.97732	4.065	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.99581	1.0973	10	0.87932	D	0	.	19.2582	0.93955	0.0:1.0:0.0:0.0	.	258	P15056	BRAF_HUMAN	V	258	ENSP00000288602:G258V	ENSP00000288602:G258V	G	-	2	0	BRAF	140147768	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.772000	0.85439	2.557000	0.86248	0.561000	0.74099	GGT		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		11	75	1	0	3.86212e-05	1	4.09385e-05	11	75					A	140501299	C	A	140501299	3	1	54	1	0	0	0	0	1	0	0	0	1496	507	18	5	1579	5	BRAF	7	140501299	Missense_Mutation	SNP	C	TCGA-EJ-5505-01A-01D-1576-08	134069670	140501299	18637364	15	2831											
MLLT3	4300	broad.mit.edu	37	chr9	20620724	20620724	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caaagtgctgtatgttactgTgctccggaccgcgtacgaac	9	10	11	11	4	0	0	0	0	0	0	1	2	1	1	2	1	5	5	2	1	5	3			TCGA-EJ-5505-01A-01D-1576-08	TCGA-EJ-5505-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81a818c2-0b58-46fa-a0a7-6f7cf020ba45	7756bd88-7802-41a3-abcb-aed3b0481164	g.chr9:20620724T>C	ENST00000380338.4	-	2	408	c.122A>G	c.(121-123)cAc>cGc	p.H41R	MLLT3_ENST00000429426.2_Missense_Mutation_p.H38R|MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000475957.1_5'UTR	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	41	YEATS. {ECO:0000255|PROSITE- ProRule:PRU00376}.				anterior/posterior pattern specification (GO:0009952)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|regulation of transcription, DNA-templated (GO:0006355)|segment specification (GO:0007379)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)		p.H41R(1)		central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		TATGTTACTGTGCTCCGGACC	0.547			T	MLL	ALL																																	ENST00000380338.4				Dom	yes		9	9p22	4300	T	"myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 (AF9)"			L	MLL		ALL		1	Substitution - Missense(1)	p.H41R(1)	prostate(1)	central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66						c.(121-123)cAc>cGc		myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3							143	134	137					9																	20620724		2203	4300	6503	SO:0001583	missense	4300				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	g.chr9:20620724T>C	L13744	CCDS6494.1	9p22	2008-02-05	2001-11-28		ENSG00000171843	ENSG00000171843			7136	protein-coding gene	gene with protein product		159558	"myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 3"			8506309, 8414510	Standard	NM_001286691		Approved	AF-9, AF9, YEATS3	uc003zoe.2	P42568	OTTHUMG00000019650	ENST00000380338.4:c.122A>G	9.37:g.20620724T>C	ENSP00000369695:p.His41Arg					MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000429426.2_Missense_Mutation_p.H38R	p.H41R	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN		GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)	2	408	-			41			YEATS.		B1AMQ2|B2R7B3|B7Z755|D3DRJ8|Q8IVB0	Missense_Mutation	SNP	ENST00000380338.4	37	c.122A>G	CCDS6494.1	.	.	.	.	.	.	.	.	.	.	T	6.633	0.485208	0.12641	.	.	ENSG00000171843	ENST00000380338;ENST00000429426;ENST00000540751	.	.	.	5.47	4.33	0.51752	.	0.055265	0.64402	D	0.000001	T	0.29223	0.0727	N	0.03000	-0.44	0.80722	D	1	B;B;B	0.27117	0.069;0.168;0.078	B;B;B	0.32289	0.127;0.143;0.069	T	0.08722	-1.0708	9	0.27785	T	0.31	-6.7094	11.1419	0.48408	0.0:0.0733:0.0:0.9267	.	41;38;41	B2R7B3;B7Z755;P42568	.;.;AF9_HUMAN	R	41;38;80	.	ENSP00000369695:H41R	H	-	2	0	MLLT3	20610724	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.233000	0.58651	0.893000	0.36288	0.459000	0.35465	CAC		0.547	MLLT3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051872.1	NM_004529		47	216	0	0	0	1	0	47	216					C	20620724	T	C	20620724	3	2	54	1	0	0	0	0	1	0	0	0	9628	1696	59	4	1624	4	MLLT3	9	20620724	Missense_Mutation	SNP	T	TCGA-EJ-5505-01A-01D-1576-08		20620724	120592707	16	2832											
RFK	55312	broad.mit.edu	37	chr9	79002418	79002418	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtttcttagcttcttcaataTcaccttgaattgctgaaata	11	17	5	8	0	4	2	2	2	2	0	4	2	4	2	1	0	2	3	1	0	6	8			TCGA-EJ-5505-01A-01D-1576-08	TCGA-EJ-5505-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81a818c2-0b58-46fa-a0a7-6f7cf020ba45	7756bd88-7802-41a3-abcb-aed3b0481164	g.chr9:79002418T>A	ENST00000376736.1	-	4	698	c.365A>T	c.(364-366)gAt>gTt	p.D122V	RFK_ENST00000479197.1_5'Flank	NM_018339.5	NP_060809.3	Q969G6	RIFK_HUMAN	riboflavin kinase	122					apoptotic process (GO:0006915)|FMN biosynthetic process (GO:0009398)|positive regulation of NAD(P)H oxidase activity (GO:0033864)|reactive oxygen species metabolic process (GO:0072593)|riboflavin biosynthetic process (GO:0009231)|riboflavin metabolic process (GO:0006771)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|riboflavin kinase activity (GO:0008531)	p.D129V(1)		pancreas(1)|prostate(1)|urinary_tract(1)	3					Riboflavin(DB00140)	TTCTTCAATATCACCTTGAAT	0.333																																						ENST00000376736.1																			1	Substitution - Missense(1)	p.D129V(1)	prostate(1)	pancreas(1)|prostate(1)|urinary_tract(1)	3						c.(364-366)gAt>gTt		riboflavin kinase	Riboflavin(DB00140)						100	101	101					9																	79002418		2203	4299	6502	SO:0001583	missense	55312				riboflavin biosynthetic process	cytosol	ATP binding|metal ion binding|riboflavin kinase activity	g.chr9:79002418T>A	AK002011	CCDS35044.1, CCDS35044.2	9q21.31	2010-11-16			ENSG00000135002	ENSG00000135002			30324	protein-coding gene	gene with protein product		613010				14580199	Standard	NM_018339		Approved	FLJ11149, RIFK	uc004akd.2	Q969G6	OTTHUMG00000020040	ENST00000376736.1:c.365A>T	9.37:g.79002418T>A	ENSP00000365926:p.Asp122Val						p.D122V	NM_018339.5	NP_060809.3	Q969G6	RIFK_HUMAN			4	698	-			122					Q5JSG9|Q9NUT7	Missense_Mutation	SNP	ENST00000376736.1	37	c.365A>T	CCDS35044.2	.	.	.	.	.	.	.	.	.	.	T	22.1	4.244085	0.79912	.	.	ENSG00000135002	ENST00000376736;ENST00000257452	.	.	.	4.59	4.59	0.56863	Riboflavin kinase domain (1);Riboflavin kinase domain, bacterial/eukaryotic (3);	0.000000	0.85682	D	0.000000	D	0.90872	0.7132	H	0.99487	4.59	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.94520	0.7726	9	0.87932	D	0	-29.0273	14.2538	0.66038	0.0:0.0:0.0:1.0	.	122	Q969G6	RIFK_HUMAN	V	122;129	.	ENSP00000257452:D129V	D	-	2	0	RFK	78192238	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	6.920000	0.75799	1.844000	0.53588	0.377000	0.23210	GAT		0.333	RFK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052720.1	NM_018339		15	267	0	0	0	1	0	15	267					A	79002418	T	A	79002418	3	1	54	1	0	0	0	0	1	0	0	0	13251	1435	50	5	106	5	RFK	9	79002418	Missense_Mutation	SNP	T	TCGA-EJ-5505-01A-01D-1576-08	58381694	79002418	62211013	17	2833											
C1QL3	389941	broad.mit.edu	37	chr10	16562941	16562941	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcgggcgtggcagcggtgcTgggcgccttggtgcccccgt	1	8	19	13	5	0	0	0	0	0	0	1	0	0	0	3	5	3	2	3	5	0	1			TCGA-EJ-5505-01A-01D-1576-08	TCGA-EJ-5505-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81a818c2-0b58-46fa-a0a7-6f7cf020ba45	7756bd88-7802-41a3-abcb-aed3b0481164	g.chr10:16562941T>A	ENST00000298943.3	-	1	1063	c.124A>T	c.(124-126)Agc>Tgc	p.S42C		NM_001010908.1	NP_001010908.1	Q5VWW1	C1QL3_HUMAN	complement component 1, q subcomponent-like 3	42					regulation of synapse organization (GO:0050807)	collagen trimer (GO:0005581)|extracellular region (GO:0005576)		p.S42C(1)		breast(1)|endometrium(3)|kidney(1)|lung(4)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	13						GCAGCGGTGCTGGGCGCCTTG	0.736																																						ENST00000298943.3																			1	Substitution - Missense(1)	p.S42C(1)	prostate(1)	breast(1)|endometrium(3)|kidney(1)|lung(4)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	13						c.(124-126)Agc>Tgc		complement component 1, q subcomponent-like 3							5	8	7					10																	16562941		1954	4015	5969	SO:0001583	missense	389941					collagen		g.chr10:16562941T>A		CCDS31156.1	10p13	2012-03-26			ENSG00000165985	ENSG00000165985			19359	protein-coding gene	gene with protein product		615227				21378161	Standard	NM_001010908		Approved	K100, C1ql, C1QTNF13, CTRP13	uc001ioj.1	Q5VWW1	OTTHUMG00000017738	ENST00000298943.3:c.124A>T	10.37:g.16562941T>A	ENSP00000298943:p.Ser42Cys						p.S42C	NM_001010908.1	NP_001010908.1	Q5VWW1	C1QL3_HUMAN			1	1063	-			42					A0PJY4|A0PJY5	Missense_Mutation	SNP	ENST00000298943.3	37	c.124A>T	CCDS31156.1	.	.	.	.	.	.	.	.	.	.	T	8.182	0.794049	0.16327	.	.	ENSG00000165985	ENST00000298943;ENST00000448557	D	0.84660	-1.88	3.9	1.47	0.22746	.	0.261494	0.36338	N	0.002644	T	0.75975	0.3923	L	0.40543	1.245	0.39110	D	0.961467	P	0.44195	0.828	B	0.40741	0.339	T	0.71735	-0.4503	10	0.72032	D	0.01	.	5.4959	0.16802	0.153:0.0861:0.0:0.7609	.	42	Q5VWW1	C1QL3_HUMAN	C	42	ENSP00000298943:S42C	ENSP00000298943:S42C	S	-	1	0	C1QL3	16602947	1.000000	0.71417	0.952000	0.39060	0.062000	0.15995	3.003000	0.49505	0.104000	0.17725	-0.379000	0.06801	AGC		0.736	C1QL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047003.1	XM_372305		2	3	0	0	0	1	0	2	3					A	16562941	T	A	16562941	3	1	54	1	0	0	0	0	1	0	0	0	1960	1580	55	5	651	5	C1QL3	10	16562941	Missense_Mutation	SNP	T	TCGA-EJ-5505-01A-01D-1576-08		16562941	118971806	18	2834											
MLLT10	8028	broad.mit.edu	37	chr10	21962615	21962615	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tggcatagaagaagaaactgTaaaggaaaagaaaaggaaag	23	4	12	2	0	0	4	0	0	0	4	0	6	0	6	0	3	1	2	0	3	11	2			TCGA-EJ-5505-01A-01D-1576-08	TCGA-EJ-5505-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81a818c2-0b58-46fa-a0a7-6f7cf020ba45	7756bd88-7802-41a3-abcb-aed3b0481164	g.chr10:21962615T>A	ENST00000307729.7	+	11	1566	c.1388T>A	c.(1387-1389)gTa>gAa	p.V463E	MLLT10_ENST00000377059.3_Missense_Mutation_p.V463E|MLLT10_ENST00000377072.3_Missense_Mutation_p.V463E|MLLT10_ENST00000446906.2_Missense_Mutation_p.V463E			P55197	AF10_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 10	463	DNA-binding.				positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.V463E(2)		NS(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6						GAAGAAACTGTAAAGGAAAAG	0.398			T	"MLL, PICALM, CDK6"	AL																																	ENST00000377072.3				Dom	yes		10	10p12	8028	T	"myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 10 (AF10)"			L	"MLL, PICALM, CDK6"		AL		2	Substitution - Missense(2)	p.V463E(2)	prostate(2)	NS(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6						c.(1387-1389)gTa>gAa		myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 10							102	112	108					10																	21962615		2203	4300	6503	SO:0001583	missense	8028				positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr10:21962615T>A	U13948	CCDS7135.1, CCDS55706.1, CCDS55707.1, CCDS55708.1	10p12	2013-01-28	2001-11-28		ENSG00000078403	ENSG00000078403		"Zinc fingers, PHD-type"	16063	protein-coding gene	gene with protein product		602409	"myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 10"			7888665	Standard	NM_004641		Approved	AF10	uc021pny.1	P55197	OTTHUMG00000017799	ENST00000307729.7:c.1388T>A	10.37:g.21962615T>A	ENSP00000307411:p.Val463Glu					MLLT10_ENST00000446906.2_Missense_Mutation_p.V463E|MLLT10_ENST00000307729.7_Missense_Mutation_p.V463E|MLLT10_ENST00000377059.3_Missense_Mutation_p.V463E	p.V463E	NM_004641.3	NP_004632.1	P55197	AF10_HUMAN			11	1736	+			463			DNA-binding.		B1ANA8|Q5JT37|Q5VX90|Q66K63	Missense_Mutation	SNP	ENST00000307729.7	37	c.1388T>A	CCDS55708.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	21.5|21.5	4.158125|4.158125	0.78114|0.78114	.|.	.|.	ENSG00000078403|ENSG00000078403	ENST00000377072;ENST00000446906;ENST00000307729;ENST00000396529;ENST00000377059;ENST00000438473;ENST00000538639|ENST00000420525	T;T;T;T|.	0.17213|.	2.29;2.3;2.29;2.3|.	5.36|5.36	5.36|5.36	0.76844|0.76844	.|.	0.124593|.	0.53938|.	D|.	0.000047|.	T|.	0.63977|.	0.2557|.	L|L	0.50333|0.50333	1.59|1.59	0.80722|0.80722	D|D	1|1	D;D;P;D|.	0.62365|.	0.978;0.988;0.91;0.991|.	P;P;P;P|.	0.57620|.	0.732;0.771;0.502;0.824|.	T|.	0.61850|.	-0.6978|.	10|.	0.56958|.	D|.	0.05|.	.|.	15.3441|15.3441	0.74320|0.74320	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	309;463;463;463|.	F5H541;E9PBP4;Q5VX90;P55197|.	.;.;.;AF10_HUMAN|.	E|K	463;463;463;309;463;106;105|37	ENSP00000366272:V463E;ENSP00000401406:V463E;ENSP00000307411:V463E;ENSP00000366258:V463E|.	ENSP00000307411:V463E|.	V|X	+|+	2|1	0|0	MLLT10|MLLT10	22002621|22002621	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	6.181000|6.181000	0.71988|0.71988	2.046000|2.046000	0.60703|0.60703	0.477000|0.477000	0.44152|0.44152	GTA|TAA		0.398	MLLT10-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047136.1			10	390	0	0	0	1	0	10	390					A	21962615	T	A	21962615	3	1	54	1	0	0	0	0	1	0	0	0	9626	1638	57	5	1426	5	MLLT10	10	21962615	Missense_Mutation	SNP	T	TCGA-EJ-5505-01A-01D-1576-08	5399674	21962615	113572132	19	2835											
XRRA1	143570	broad.mit.edu	37	chr11	74618288	74618288	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gggaacctcaggatgtacctCttgcttgtcagcgatgttac	8	12	11	10	1	3	0	2	0	1	0	3	3	3	2	2	2	5	3	2	2	3	4			TCGA-EJ-5505-01A-01D-1576-08	TCGA-EJ-5505-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81a818c2-0b58-46fa-a0a7-6f7cf020ba45	7756bd88-7802-41a3-abcb-aed3b0481164	g.chr11:74618288C>G	ENST00000340360.6	-	9	994	c.663G>C	c.(661-663)aaG>aaC	p.K221N	RP11-147I3.1_ENST00000533875.1_RNA|XRRA1_ENST00000533598.1_5'Flank|XRRA1_ENST00000321448.8_5'UTR|XRRA1_ENST00000527087.1_Missense_Mutation_p.K221N	NM_182969.2	NP_892014.1			X-ray radiation resistance associated 1									p.K221N(1)		breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(3)	20						GGATGTACCTCTTGCTTGTCA	0.542																																						ENST00000340360.6																			1	Substitution - Missense(1)	p.K221N(1)	prostate(1)	breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(3)	20						c.(661-663)aaG>aaC		X-ray radiation resistance associated 1							108	109	108					11																	74618288		2035	4203	6238	SO:0001583	missense	143570				response to X-ray	cytoplasm|nucleus		g.chr11:74618288C>G	AK074152	CCDS44680.1, CCDS58159.1, CCDS58160.1	11q13.4	2010-03-19			ENSG00000166435	ENSG00000166435			18868	protein-coding gene	gene with protein product		609788				12908878, 17295261	Standard	NM_182969		Approved	FLJ00225	uc009yub.3	Q6P2D8		ENST00000340360.6:c.663G>C	11.37:g.74618288C>G	ENSP00000339918:p.Lys221Asn					XRRA1_ENST00000321448.8_5'UTR|RP11-147I3.1_ENST00000533875.1_RNA|XRRA1_ENST00000527087.1_Missense_Mutation_p.K221N	p.K221N	NM_182969.2	NP_892014.1	Q6P2D8	XRRA1_HUMAN			9	994	-			221						Missense_Mutation	SNP	ENST00000340360.6	37	c.663G>C	CCDS44680.1	.	.	.	.	.	.	.	.	.	.	C	14.67	2.604909	0.46423	.	.	ENSG00000166435	ENST00000340360;ENST00000344880;ENST00000398418;ENST00000527087;ENST00000525407	T;T;T	0.50813	0.73;0.77;1.0	5.51	3.53	0.40419	.	0.447401	0.22913	N	0.054103	T	0.47728	0.1461	L	0.53249	1.67	0.31051	N	0.715192	P;P	0.51351	0.933;0.944	P;P	0.52957	0.462;0.714	T	0.48175	-0.9058	10	0.21540	T	0.41	-15.9086	5.9971	0.19499	0.1881:0.7175:0.0:0.0944	.	221;221	Q6P2D8;Q6P2D8-2	XRRA1_HUMAN;.	N	221;221;221;221;229	ENSP00000339918:K221N;ENSP00000435838:K221N;ENSP00000437334:K229N	ENSP00000339918:K221N	K	-	3	2	XRRA1	74295936	0.996000	0.38824	1.000000	0.80357	0.962000	0.63368	0.810000	0.27183	1.334000	0.45468	0.591000	0.81541	AAG		0.542	XRRA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384715.1	NM_182969		20	105	0	0	0	1	0	20	105					G	74618288	C	G	74618288	3	3	54	1	0	0	0	0	1	0	0	0	17458	912	32	5	1759	5	XRRA1	11	74618288	Missense_Mutation	SNP	C	TCGA-EJ-5505-01A-01D-1576-08		74618288	60388228	20	2836											
HEPHL1	341208	broad.mit.edu	37	chr11	93803647	93803647	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagcagctgaaaaaattcttTgggattatgctcctcaaggc	12	12	9	8	0	2	1	1	1	1	0	3	2	3	2	1	2	3	3	1	2	6	4			TCGA-EJ-5505-01A-01D-1576-08	TCGA-EJ-5505-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81a818c2-0b58-46fa-a0a7-6f7cf020ba45	7756bd88-7802-41a3-abcb-aed3b0481164	g.chr11:93803647T>C	ENST00000315765.9	+	6	1179	c.1171T>C	c.(1171-1173)Tgg>Cgg	p.W391R		NM_001098672.1	NP_001092142.1	Q6MZM0	HPHL1_HUMAN	hephaestin-like 1	391	Plastocyanin-like 3.				copper ion transport (GO:0006825)|oxidation-reduction process (GO:0055114)	integral component of membrane (GO:0016021)	copper ion binding (GO:0005507)|ferroxidase activity (GO:0004322)	p.W392R(1)|p.W391R(1)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	61		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)				AAAAATTCTTTGGGATTATGC	0.438																																						ENST00000315765.9																			2	Substitution - Missense(2)	p.W392R(1)|p.W391R(1)	prostate(2)	NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	61						c.(1171-1173)Tgg>Cgg		hephaestin-like 1							56	51	52					11																	93803647		1832	4084	5916	SO:0001583	missense	341208				copper ion transport	integral to membrane	copper ion binding|oxidoreductase activity	g.chr11:93803647T>C	BX641008	CCDS44710.1	11q21	2008-02-05			ENSG00000181333	ENSG00000181333			30477	protein-coding gene	gene with protein product							Standard	NM_001098672		Approved	DKFZp686F22190	uc001pep.2	Q6MZM0	OTTHUMG00000167751	ENST00000315765.9:c.1171T>C	11.37:g.93803647T>C	ENSP00000313699:p.Trp391Arg						p.W391R	NM_001098672.1	NP_001092142.1	Q6MZM0	HPHL1_HUMAN			6	1179	+		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)	391			Plastocyanin-like 3.		Q3C1W7	Missense_Mutation	SNP	ENST00000315765.9	37	c.1171T>C	CCDS44710.1	.	.	.	.	.	.	.	.	.	.	T	22.8	4.332096	0.81801	.	.	ENSG00000181333	ENST00000315765	D	0.99353	-5.77	5.7	5.7	0.88788	Cupredoxin (2);	0.000000	0.85682	D	0.000000	D	0.99563	0.9843	M	0.93283	3.4	0.53005	D	0.999964	D	0.89917	1.0	D	0.85130	0.997	D	0.98039	1.0381	10	0.72032	D	0.01	.	15.9692	0.79998	0.0:0.0:0.0:1.0	.	391	Q6MZM0	HPHL1_HUMAN	R	391	ENSP00000313699:W391R	ENSP00000313699:W391R	W	+	1	0	HEPHL1	93443295	1.000000	0.71417	0.987000	0.45799	0.978000	0.69477	7.091000	0.76923	2.162000	0.67917	0.528000	0.53228	TGG		0.438	HEPHL1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396103.2	XM_291947		15	33	0	0	0	1	0	15	33					C	93803647	T	C	93803647	3	2	54	1	0	0	0	0	1	0	0	0	7055	1812	63	4	1193	4	HEPHL1	11	93803647	Missense_Mutation	SNP	T	TCGA-EJ-5505-01A-01D-1576-08	19185359	93803647	41202869	21	2837											
BSX	390259	broad.mit.edu	37	chr11	122848489	122848489	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcggtggcggcctctgaaccGcgggggctgccctcggggct	2	6	19	14	5	1	1	0	1	1	0	2	1	1	1	3	7	2	2	3	7	1	0			TCGA-EJ-5505-01A-01D-1576-08	TCGA-EJ-5505-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81a818c2-0b58-46fa-a0a7-6f7cf020ba45	7756bd88-7802-41a3-abcb-aed3b0481164	g.chr11:122848489G>A	ENST00000343035.2	-	3	618	c.570C>T	c.(568-570)cgC>cgT	p.R190R		NM_001098169.1	NP_001091639.1	Q3C1V8	BSH_HUMAN	brain-specific homeobox	190					eating behavior (GO:0042755)|locomotory behavior (GO:0007626)|mammary gland involution (GO:0060056)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R190R(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(2)	10		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0361)		CCTCTGAACCGCGGGGGCTGC	0.657																																						ENST00000343035.2																			1	Substitution - coding silent(1)	p.R190R(1)	prostate(1)	endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(2)	10						c.(568-570)cgC>cgT		brain-specific homeobox							26	30	29					11																	122848489		1848	4080	5928	SO:0001819	synonymous_variant	390259							g.chr11:122848489G>A		CCDS41728.1	11q24.1	2011-07-19			ENSG00000188909	ENSG00000188909		"Homeoboxes / ANTP class : NKL subclass"	20450	protein-coding gene	gene with protein product		611074					Standard	NM_001098169		Approved	BSX1	uc010rzs.2	Q3C1V8	OTTHUMG00000150247	ENST00000343035.2:c.570C>T	11.37:g.122848489G>A							p.R190R	NM_001098169.1	NP_001091639.1	Q3C1V8	BSH_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0361)	3	618	-		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	190						Silent	SNP	ENST00000343035.2	37	c.570C>T	CCDS41728.1																																																																																				0.657	BSX-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317076.1	NM_001098169		3	21	0	0	0	1	0	3	21					A	122848489	G	A	122848489	2	1	54	1	0	0	0	0	0	0	0	1	1535	1074	38	1		1	BSX	11	122848489	Silent	SNP	G	TCGA-EJ-5505-01A-01D-1576-08	29044842	122848489	12158027	22	2838											
OR4D5	219875	broad.mit.edu	37	chr11	123810477	123810477	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttgtggtcatagtgacctccGacccacacctgcacacaacc	10	8	7	16	1	1	1	1	1	0	0	2	2	2	1	5	1	2	1	5	1	2	2			TCGA-EJ-5505-01A-01D-1576-08	TCGA-EJ-5505-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81a818c2-0b58-46fa-a0a7-6f7cf020ba45	7756bd88-7802-41a3-abcb-aed3b0481164	g.chr11:123810477G>A	ENST00000307033.2	+	1	228	c.154G>A	c.(154-156)Gac>Aac	p.D52N		NM_001001965.1	NP_001001965.1	Q8NGN0	OR4D5_HUMAN	olfactory receptor, family 4, subfamily D, member 5	52						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.D52N(1)		autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		AGTGACCTCCGACCCACACCT	0.443																																						ENST00000307033.2																			1	Substitution - Missense(1)	p.D52N(1)	prostate(1)	autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						c.(154-156)Gac>Aac		olfactory receptor, family 4, subfamily D, member 5							176	154	161					11																	123810477		2202	4299	6501	SO:0001583	missense	219875				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:123810477G>A	BK004316	CCDS31699.1	11q24.1	2012-08-09			ENSG00000171014	ENSG00000171014		"GPCR / Class A : Olfactory receptors"	14852	protein-coding gene	gene with protein product							Standard	NM_001001965		Approved		uc001pzk.1	Q8NGN0	OTTHUMG00000165961	ENST00000307033.2:c.154G>A	11.37:g.123810477G>A	ENSP00000305970:p.Asp52Asn						p.D52N	NM_001001965.1	NP_001001965.1	Q8NGN0	OR4D5_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)	1	228	+		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	52					B9EGZ4|Q6IFE6	Missense_Mutation	SNP	ENST00000307033.2	37	c.154G>A	CCDS31699.1	.	.	.	.	.	.	.	.	.	.	G	14.83	2.652011	0.47362	.	.	ENSG00000171014	ENST00000307033	T	0.02837	4.14	5.28	4.36	0.52297	GPCR, rhodopsin-like superfamily (1);	0.123947	0.35936	N	0.002894	T	0.04634	0.0126	L	0.60455	1.87	0.33806	D	0.627313	B	0.23058	0.079	B	0.24974	0.057	T	0.04153	-1.0973	10	0.59425	D	0.04	-7.9721	10.0762	0.42362	0.1573:0.0:0.8427:0.0	.	52	Q8NGN0	OR4D5_HUMAN	N	52	ENSP00000305970:D52N	ENSP00000305970:D52N	D	+	1	0	OR4D5	123315687	0.000000	0.05858	0.135000	0.22099	0.959000	0.62525	0.213000	0.17521	1.206000	0.43276	0.655000	0.94253	GAC		0.443	OR4D5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387263.1	NM_001001965		62	188	0	0	0	1	0	62	188					A	123810477	G	A	123810477	3	1	54	1	0	0	0	0	1	0	0	0	11057	1058	37	2	156	2	OR4D5	11	123810477	Missense_Mutation	SNP	G	TCGA-EJ-5505-01A-01D-1576-08	961988	123810477	11196039	23	2839											
KRT73	319101	broad.mit.edu	37	chr12	53005086	53005086	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tttcaggtcatccccatgccGgccggctgctagctgcagct	5	10	11	15	2	2	0	2	0	0	0	3	0	3	0	4	3	5	5	4	3	1	2	rs150273425	byFrequency	TCGA-EJ-5505-01A-01D-1576-08	TCGA-EJ-5505-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81a818c2-0b58-46fa-a0a7-6f7cf020ba45	7756bd88-7802-41a3-abcb-aed3b0481164	g.chr12:53005086G>A	ENST00000305748.3	-	6	1046	c.1012C>T	c.(1012-1014)Cgg>Tgg	p.R338W	RP11-641A6.2_ENST00000552364.1_RNA|RP11-641A6.2_ENST00000551089.1_RNA|RP11-641A6.2_ENST00000549180.1_RNA	NM_175068.2	NP_778238.1	Q86Y46	K2C73_HUMAN	keratin 73	338	Coil 2.|Rod.					extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)|nucleus (GO:0005634)	structural molecule activity (GO:0005198)	p.R338W(1)		NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44				BRCA - Breast invasive adenocarcinoma(357;0.189)		TCCCCATGCCGGCCGGCTGCT	0.537													G|||	10	0.00199681	0	0	5008	,	,		20639	0		0	False		,,,				2504	0.0102					ENST00000305748.3																			1	Substitution - Missense(1)	p.R338W(1)	prostate(1)	NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						c.(1012-1014)Cgg>Tgg		keratin 73		G	TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	107	97	100		1012	2.7	0.2	12	dbSNP_134	100	0,8600		0,0,4300	no	missense	KRT73	NM_175068.2	101	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	338/541	53005086	1,13005	2203	4300	6503	SO:0001583	missense	319101					keratin filament	structural molecule activity	g.chr12:53005086G>A	AJ508776	CCDS8834.1	12q13.13	2013-06-25			ENSG00000186049	ENSG00000186049		"-", "Intermediate filaments type II, keratins (basic)"	28928	protein-coding gene	gene with protein product		608247				12648212, 16831889	Standard	NM_175068		Approved	KRT6IRS3, K6IRS3	uc001sas.3	Q86Y46	OTTHUMG00000169746	ENST00000305748.3:c.1012C>T	12.37:g.53005086G>A	ENSP00000307014:p.Arg338Trp					RP11-641A6.2_ENST00000552364.1_RNA|RP11-641A6.2_ENST00000549180.1_RNA|RP11-641A6.2_ENST00000551089.1_RNA	p.R338W	NM_175068.2	NP_778238.1	Q86Y46	K2C73_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.189)	6	1046	-			338			Coil 2.|Rod.		Q32MB2	Missense_Mutation	SNP	ENST00000305748.3	37	c.1012C>T	CCDS8834.1	.	.	.	.	.	.	.	.	.	.	G	14.41	2.525997	0.44969	2.27E-4	0.0	ENSG00000186049	ENST00000305748;ENST00000552855	T;T	0.77877	-0.97;-1.13	5.61	2.66	0.31614	Filament (1);	0.130542	0.32244	N	0.006378	D	0.87529	0.6200	M	0.93550	3.43	0.09310	N	1	D	0.69078	0.997	D	0.64595	0.927	T	0.78612	-0.2136	10	0.87932	D	0	.	4.9583	0.14054	0.0713:0.109:0.3857:0.4341	.	338	Q86Y46	K2C73_HUMAN	W	338;83	ENSP00000307014:R338W;ENSP00000449081:R83W	ENSP00000307014:R338W	R	-	1	2	KRT73	51291353	0.000000	0.05858	0.165000	0.22776	0.444000	0.32077	-0.141000	0.10327	0.363000	0.24346	0.555000	0.69702	CGG		0.537	KRT73-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405700.1	NM_175068		21	107	0	0	0	1	0	21	107					A	53005086	G	A	53005086	3	1	54	1	0	0	0	0	1	0	0	0	8486	1115	39	2	626	2	KRT73	12	53005086	Missense_Mutation	SNP	G	TCGA-EJ-5505-01A-01D-1576-08		53005086	80846809	24	2840											
TIMELESS	8914	broad.mit.edu	37	chr12	56817470	56817470	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttcttcttcctctgccccaCgttcctctgggccctgctgc	1	14	7	19	1	4	0	0	0	4	0	6	0	6	0	5	1	3	2	5	1	0	4			TCGA-EJ-5505-01A-01D-1576-08	TCGA-EJ-5505-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81a818c2-0b58-46fa-a0a7-6f7cf020ba45	7756bd88-7802-41a3-abcb-aed3b0481164	g.chr12:56817470C>T	ENST00000553532.1	-	17	2138	c.1988G>A	c.(1987-1989)cGt>cAt	p.R663H	TIMELESS_ENST00000554616.1_Intron|TIMELESS_ENST00000229201.4_Missense_Mutation_p.R662H					timeless circadian clock									p.R663H(1)		NS(1)|breast(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(8)|lung(14)|ovary(7)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	49						ctcTGCCCCACGTTCCTCTGG	0.502																																						ENST00000229201.4																			1	Substitution - Missense(1)	p.R663H(1)	prostate(1)	NS(1)|breast(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(8)|lung(14)|ovary(7)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	49						c.(1984-1986)cGt>cAt		timeless circadian clock							44	45	44					12																	56817470		2203	4300	6503	SO:0001583	missense	8914				cell division|circadian rhythm|detection of abiotic stimulus|mitosis|morphogenesis of an epithelium|negative regulation of transcription, DNA-dependent|regulation of S phase|response to DNA damage stimulus|transcription, DNA-dependent	nuclear chromatin		g.chr12:56817470C>T	AF098162	CCDS8918.1	12q13.3	2012-12-14	2012-12-14		ENSG00000111602	ENSG00000111602			11813	protein-coding gene	gene with protein product	"Tof1 homolog (S. cerevisiae)", "timeless circadian clock 1"	603887	"timeless (Drosophila) homolog", "timeless homolog (Drosophila)"			9856465	Standard	NM_003920		Approved	hTIM, TIM, TIM1	uc001slf.2	Q9UNS1	OTTHUMG00000170600	ENST00000553532.1:c.1988G>A	12.37:g.56817470C>T	ENSP00000450607:p.Arg663His					TIMELESS_ENST00000554616.1_Intron|TIMELESS_ENST00000553532.1_Missense_Mutation_p.R663H	p.R662H	NM_003920.3	NP_003911.2	Q9UNS1	TIM_HUMAN			17	2139	-			663			Glu-rich.			Missense_Mutation	SNP	ENST00000553532.1	37	c.1985G>A	CCDS8918.1	.	.	.	.	.	.	.	.	.	.	C	9.748	1.166731	0.21621	.	.	ENSG00000111602	ENST00000229201;ENST00000553532	T;T	0.06933	3.24;3.24	5.61	-11.2	0.00127	.	1.837510	0.02432	N	0.083684	T	0.07503	0.0189	L	0.36672	1.1	0.09310	N	1	B	0.26876	0.162	B	0.25140	0.058	T	0.12066	-1.0562	10	0.49607	T	0.09	15.4924	14.0466	0.64708	0.0:0.6418:0.2007:0.1575	.	663	Q9UNS1	TIM_HUMAN	H	662;663	ENSP00000229201:R662H;ENSP00000450607:R663H	ENSP00000229201:R663H	R	-	2	0	TIMELESS	55103737	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-0.358000	0.07641	-2.261000	0.00691	-0.291000	0.09656	CGT		0.502	TIMELESS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000409771.1	NM_003920		13	40	0	0	0	1	0	13	40					T	56817470	C	T	56817470	3	4	54	1	0	0	0	0	1	0	0	0	15901	536	19	1	1690	1	TIMELESS	12	56817470	Missense_Mutation	SNP	C	TCGA-EJ-5505-01A-01D-1576-08	3812384	56817470	77034425	25	2841											
FAM63B	54629	broad.mit.edu	37	chr15	59064095	59064095	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcagcgacccgagccctccTggggaatctccgagcctgga	7	6	13	15	3	1	0	0	0	1	0	3	5	2	2	5	3	4	1	5	3	1	0	rs369822716		TCGA-EJ-5505-01A-01D-1576-08	TCGA-EJ-5505-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81a818c2-0b58-46fa-a0a7-6f7cf020ba45	7756bd88-7802-41a3-abcb-aed3b0481164	g.chr15:59064095T>G	ENST00000559228.1	+	1	583	c.501T>G	c.(499-501)ccT>ccG	p.P167P	RP11-30K9.6_ENST00000500929.2_lincRNA|FAM63B_ENST00000450403.2_Silent_p.P167P			Q8NBR6	FA63B_HUMAN	family with sequence similarity 63, member B	167								p.P167P(1)		central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	15						CGAGCCCTCCTGGGGAATCTC	0.632																																						ENST00000559228.1																			1	Substitution - coding silent(1)	p.P167P(1)	prostate(1)	central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	15						c.(499-501)ccT>ccG		family with sequence similarity 63, member B							18	19	19					15																	59064095		1857	4082	5939	SO:0001819	synonymous_variant	54629							g.chr15:59064095T>G	AK075319	CCDS42046.1, CCDS45268.1	15q21.3	2005-08-09							26954	protein-coding gene	gene with protein product						10574461	Standard	NM_001040450		Approved	KIAA1164	uc002afj.3	Q8NBR6		ENST00000559228.1:c.501T>G	15.37:g.59064095T>G						FAM63B_ENST00000450403.2_Silent_p.P167P	p.P167P			Q8NBR6	FA63B_HUMAN			1	583	+			167					B2RTT8|Q9ULQ6	Silent	SNP	ENST00000559228.1	37	c.501T>G	CCDS42046.1																																																																																				0.632	FAM63B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000416230.1	NM_019092		4	32	0	0	0	1	0	4	32					G	59064095	T	G	59064095	2	3	54	1	0	0	0	0	0	0	0	1	5597	1567	55	5		5	FAM63B	15	59064095	Silent	SNP	T	TCGA-EJ-5505-01A-01D-1576-08		59064095	43467297	26	2842											
SCNN1B	6338	broad.mit.edu	37	chr16	23360195	23360195	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggcttcaagaccatggactTccctgccgtcaccatctgca	9	9	8	15	1	3	1	2	0	1	1	4	2	4	2	4	2	2	2	4	2	1	2			TCGA-EJ-5505-01A-01D-1576-08	TCGA-EJ-5505-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81a818c2-0b58-46fa-a0a7-6f7cf020ba45	7756bd88-7802-41a3-abcb-aed3b0481164	g.chr16:23360195T>C	ENST00000343070.2	+	2	451	c.275T>C	c.(274-276)tTc>tCc	p.F92S	SCNN1B_ENST00000568085.1_Missense_Mutation_p.F92S|SCNN1B_ENST00000569789.1_3'UTR|SCNN1B_ENST00000568923.1_Missense_Mutation_p.F92S|SCNN1B_ENST00000307331.5_Missense_Mutation_p.F137S	NM_000336.2	NP_000327.2	P51168	SCNNB_HUMAN	sodium channel, non-voltage-gated 1, beta subunit	92					excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|multicellular organismal water homeostasis (GO:0050891)|response to stimulus (GO:0050896)|sensory perception of taste (GO:0050909)|sodium ion homeostasis (GO:0055078)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|sodium channel complex (GO:0034706)	ligand-gated sodium channel activity (GO:0015280)|WW domain binding (GO:0050699)	p.F92S(1)		breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	32				GBM - Glioblastoma multiforme(48;0.0465)	Amiloride(DB00594)|Triamterene(DB00384)	ACCATGGACTTCCCTGCCGTC	0.587																																						ENST00000343070.2																			1	Substitution - Missense(1)	p.F92S(1)	prostate(1)	breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	32						c.(274-276)tTc>tCc		sodium channel, non-voltage-gated 1, beta subunit	Amiloride(DB00594)|Triamterene(DB00384)						71	63	66					16																	23360195		2197	4300	6497	SO:0001583	missense	0				excretion|sensory perception of taste	apical plasma membrane	ligand-gated sodium channel activity|WW domain binding	g.chr16:23360195T>C	X87159	CCDS10609.1	16p12.2-p12.1	2012-02-28	2012-02-28		ENSG00000168447	ENSG00000168447		"Ion channels / Sodium channel, nonvoltage-gated", "Sodium channels"	10600	protein-coding gene	gene with protein product	"Liddle syndrome"	600760	"sodium channel, nonvoltage-gated 1, beta", "sodium channel, non-voltage-gated 1, beta"				Standard	NM_000336		Approved	ENaCbeta	uc002dln.3	P51168	OTTHUMG00000131608	ENST00000343070.2:c.275T>C	16.37:g.23360195T>C	ENSP00000345751:p.Phe92Ser					SCNN1B_ENST00000568085.1_Missense_Mutation_p.F92S|SCNN1B_ENST00000307331.5_Missense_Mutation_p.F137S|SCNN1B_ENST00000568923.1_Missense_Mutation_p.F92S|SCNN1B_ENST00000569789.1_3'UTR	p.F92S	NM_000336.2	NP_000327.2	P51168	SCNNB_HUMAN		GBM - Glioblastoma multiforme(48;0.0465)	2	451	+			92					C5HTZ2|O60891|Q96KG2|Q9UJ32|Q9UMU5	Missense_Mutation	SNP	ENST00000343070.2	37	c.275T>C	CCDS10609.1	.	.	.	.	.	.	.	.	.	.	T	21.3	4.124354	0.77436	.	.	ENSG00000168447	ENST00000343070;ENST00000307331	D;D	0.81579	-1.51;-1.51	4.92	4.92	0.64577	.	0.150792	0.46442	D	0.000291	D	0.87633	0.6226	M	0.88640	2.97	0.49483	D	0.999796	D	0.54601	0.967	P	0.52159	0.691	D	0.90187	0.4247	10	0.87932	D	0	-15.1935	13.7288	0.62774	0.0:0.0:0.0:1.0	.	92	P51168	SCNNB_HUMAN	S	92;137	ENSP00000345751:F92S;ENSP00000302874:F137S	ENSP00000302874:F137S	F	+	2	0	SCNN1B	23267696	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	5.913000	0.69957	1.834000	0.53371	0.459000	0.35465	TTC		0.587	SCNN1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254495.2			4	45	0	0	0	1	0	4	45					C	23360195	T	C	23360195	3	2	54	1	0	0	0	0	1	0	0	0	13928	1783	62	4	277	4	SCNN1B	16	23360195	Missense_Mutation	SNP	T	TCGA-EJ-5505-01A-01D-1576-08		23360195	66994558	27	2843											
C16orf54	283897	broad.mit.edu	37	chr16	29755663	29755663	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatctgctccaaggtgacccGtggctggaggccccactcag	7	7	13	14	1	2	1	1	1	1	0	3	3	3	2	4	4	1	2	4	4	1	0	rs190639748	byFrequency	TCGA-EJ-5505-01A-01D-1576-08	TCGA-EJ-5505-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81a818c2-0b58-46fa-a0a7-6f7cf020ba45	7756bd88-7802-41a3-abcb-aed3b0481164	g.chr16:29755663G>A	ENST00000329410.3	-	2	705	c.610C>T	c.(610-612)Cgg>Tgg	p.R204W	AC009133.17_ENST00000565600.1_RNA	NM_175900.3	NP_787096.2	Q6UWD8	CP054_HUMAN	chromosome 16 open reading frame 54	204						integral component of membrane (GO:0016021)		p.R204W(1)		breast(1)|central_nervous_system(1)|lung(2)|prostate(1)|urinary_tract(1)	6						AAGGTGACCCGTGGCTGGAGG	0.667													g|||	6	0.00119808	0.0023	0.0014	5008	,	,		15340	0.002		0	False		,,,				2504	0					ENST00000329410.3																			1	Substitution - Missense(1)	p.R204W(1)	prostate(1)	breast(1)|central_nervous_system(1)|lung(2)|prostate(1)|urinary_tract(1)	6						c.(610-612)Cgg>Tgg		chromosome 16 open reading frame 54																																				SO:0001583	missense	283897					integral to membrane		g.chr16:29755663G>A	AK093000	CCDS10652.1	16p11.2	2012-10-10		2005-08-09	ENSG00000185905	ENSG00000185905			26649	protein-coding gene	gene with protein product						12975309	Standard	NM_175900		Approved	FLJ35681	uc002dtp.2	Q6UWD8	OTTHUMG00000132116	ENST00000329410.3:c.610C>T	16.37:g.29755663G>A	ENSP00000327506:p.Arg204Trp						p.R204W	NM_175900.3	NP_787096.2	Q6UWD8	CP054_HUMAN			2	705	-			204					A6NJR6|Q8NAB0	Missense_Mutation	SNP	ENST00000329410.3	37	c.610C>T	CCDS10652.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	16.90	3.250337	0.59212	.	.	ENSG00000185905	ENST00000329410	T	0.66815	-0.23	5.4	5.4	0.78164	.	0.234395	0.22352	U	0.061199	T	0.72112	0.3420	L	0.29908	0.895	0.39672	D	0.970768	D	0.89917	1.0	D	0.67231	0.95	T	0.75977	-0.3127	10	0.87932	D	0	-5.7413	14.6761	0.68981	0.0:0.0:1.0:0.0	.	204	Q6UWD8	CP054_HUMAN	W	204	ENSP00000327506:R204W	ENSP00000327506:R204W	R	-	1	2	C16orf54	29663164	1.000000	0.71417	1.000000	0.80357	0.333000	0.28666	4.260000	0.58835	2.537000	0.85549	0.313000	0.20887	CGG		0.667	C16orf54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255158.1	NM_175900		6	31	0	0	0	1	0	6	31					A	29755663	G	A	29755663	3	1	54	1	0	0	0	0	1	0	0	0	1819	1144	40	1	68	1	C16orf54	16	29755663	Missense_Mutation	SNP	G	TCGA-EJ-5505-01A-01D-1576-08	6395468	29755663	60599090	28	2844											
ITGAD	3681	broad.mit.edu	37	chr16	31427932	31427932	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tggtcagcctctactatccaGcagggctgtcgcaccgacgg	7	8	12	14	3	2	0	1	0	1	0	4	1	3	0	3	3	3	3	3	3	2	2	rs143518464		TCGA-EJ-5505-01A-01D-1576-08	TCGA-EJ-5505-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81a818c2-0b58-46fa-a0a7-6f7cf020ba45	7756bd88-7802-41a3-abcb-aed3b0481164	g.chr16:31427932G>A	ENST00000389202.2	+	20	2513	c.2464G>A	c.(2464-2466)Gca>Aca	p.A822T		NM_005353.2	NP_005344.2	Q13349	ITAD_HUMAN	integrin, alpha D	822					activated T cell proliferation (GO:0050798)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|immune response (GO:0006955)|integrin-mediated signaling pathway (GO:0007229)	cell surface (GO:0009986)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)	p.A822T(2)		breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						CTACTATCCAGCAGGGCTGTC	0.622																																						ENST00000389202.2																			2	Substitution - Missense(2)	p.A822T(2)	prostate(2)	breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						c.(2464-2466)Gca>Aca		integrin, alpha D							93	88	89					16																	31427932		2197	4300	6497	SO:0001583	missense	3681				cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway	integrin complex	receptor activity	g.chr16:31427932G>A	U40274	CCDS32438.1	16p13.1-p11	2010-03-23				ENSG00000156886		"CD molecules", "Integrins"	6146	protein-coding gene	gene with protein product		602453				8666289, 9598326	Standard	NM_005353		Approved	CD11d, ADB2	uc002ebv.1	Q13349		ENST00000389202.2:c.2464G>A	16.37:g.31427932G>A	ENSP00000373854:p.Ala822Thr						p.A822T	NM_005353.2	NP_005344.2	Q13349	ITAD_HUMAN			20	2513	+			822					Q15575|Q15576	Missense_Mutation	SNP	ENST00000389202.2	37	c.2464G>A	CCDS32438.1	.	.	.	.	.	.	.	.	.	.	G	6.360	0.434594	0.12045	.	.	ENSG00000156886	ENST00000444228;ENST00000389202	T	0.48836	0.8	4.77	2.81	0.32909	Integrin alpha-2 (1);	.	.	.	.	T	0.38799	0.1054	L	0.54323	1.7	0.29169	N	0.877242	B;B	0.26081	0.141;0.141	B;B	0.22386	0.039;0.039	T	0.29305	-1.0016	9	0.28530	T	0.3	.	6.9072	0.24315	0.122:0.4699:0.408:0.0	.	838;822	Q59H14;Q13349	.;ITAD_HUMAN	T	838;822	ENSP00000373854:A822T	ENSP00000373854:A822T	A	+	1	0	ITGAD	31335433	0.000000	0.05858	0.996000	0.52242	0.069000	0.16628	-0.056000	0.11787	0.438000	0.26450	-0.145000	0.13849	GCA		0.622	ITGAD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432836.1	NM_005353		41	132	0	0	0	1	0	41	132					A	31427932	G	A	31427932	3	1	54	1	0	0	0	0	1	0	0	0	7884	971	34	3	2542	3	ITGAD	16	31427932	Missense_Mutation	SNP	G	TCGA-EJ-5505-01A-01D-1576-08	1672269	31427932	58926821	29	2845											
CNOT1	23019	broad.mit.edu	37	chr16	58621140	58621140	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgagctggaagaattcaacAgggcaaggccaaaaattacc	16	6	10	9	0	1	2	1	1	0	1	1	3	1	3	2	3	3	2	2	3	7	2			TCGA-EJ-5505-01A-01D-1576-08	TCGA-EJ-5505-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81a818c2-0b58-46fa-a0a7-6f7cf020ba45	7756bd88-7802-41a3-abcb-aed3b0481164	g.chr16:58621140A>C	ENST00000317147.5	-	6	730	c.398T>G	c.(397-399)cTg>cGg	p.L133R	CNOT1_ENST00000569240.1_Missense_Mutation_p.L133R|CNOT1_ENST00000441024.2_Missense_Mutation_p.L133R	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1	133					gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of cytoplasmic mRNA processing body assembly (GO:0010606)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|regulation of stem cell maintenance (GO:2000036)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|transcription, DNA-templated (GO:0006351)|trophectodermal cell differentiation (GO:0001829)	CCR4-NOT complex (GO:0030014)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|extracellular space (GO:0005615)|membrane (GO:0016020)|nucleus (GO:0005634)|peroxisomal membrane (GO:0005778)	estrogen receptor binding (GO:0030331)|poly(A) RNA binding (GO:0044822)|retinoic acid receptor binding (GO:0042974)	p.L133R(2)		breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		AGAATTCAACAGGGCAAGGCC	0.338																																						ENST00000317147.5																			2	Substitution - Missense(2)	p.L133R(2)	prostate(2)	breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87						c.(397-399)cTg>cGg		CCR4-NOT transcription complex, subunit 1							102	105	104					16																	58621140		2198	4300	6498	SO:0001583	missense	23019				nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol		g.chr16:58621140A>C	AL833549	CCDS10799.1, CCDS45501.1, CCDS58468.1	16q21	2008-02-05			ENSG00000125107	ENSG00000125107			7877	protein-coding gene	gene with protein product		604917		NOT1		14702039	Standard	NM_016284		Approved	CDC39, NOT1H, KIAA1007, AD-005	uc002env.4	A5YKK6	OTTHUMG00000133487	ENST00000317147.5:c.398T>G	16.37:g.58621140A>C	ENSP00000320949:p.Leu133Arg					CNOT1_ENST00000569240.1_Missense_Mutation_p.L133R|CNOT1_ENST00000441024.2_Missense_Mutation_p.L133R	p.L133R	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN		Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)	6	730	-			133					Q68DX7|Q7Z3K2|Q8IWB8|Q8TB53|Q9BVZ6|Q9UFR8|Q9UI27|Q9Y2L0	Missense_Mutation	SNP	ENST00000317147.5	37	c.398T>G	CCDS10799.1	.	.	.	.	.	.	.	.	.	.	A	28.2	4.902340	0.92035	.	.	ENSG00000125107	ENST00000317147;ENST00000394200;ENST00000441024	T;T	0.26810	1.71;1.71	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	T	0.51975	0.1706	M	0.75615	2.305	0.80722	D	1	D;D;D	0.89917	0.969;1.0;1.0	P;D;D	0.91635	0.839;0.997;0.999	T	0.52638	-0.8549	9	.	.	.	-6.6509	15.8204	0.78638	1.0:0.0:0.0:0.0	.	133;133;133	A5YKK6-4;A5YKK6;A5YKK6-2	.;CNOT1_HUMAN;.	R	133	ENSP00000320949:L133R;ENSP00000413113:L133R	.	L	-	2	0	CNOT1	57178641	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.202000	0.72131	2.142000	0.66516	0.459000	0.35465	CTG		0.338	CNOT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257385.3	NM_016284		29	135	0	0	0	1	0	29	135					C	58621140	A	C	58621140	3	2	54	1	0	0	0	0	1	0	0	0	3617	188	7	5	7130	5	CNOT1	16	58621140	Missense_Mutation	SNP	A	TCGA-EJ-5505-01A-01D-1576-08	27193208	58621140	31733613	30	2846											
SPOP	8405	broad.mit.edu	37	chr17	47696688	47696688	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gacagctgaccagtaacaggTaaagtgacaggtaatctttg	14	9	11	7	0	1	2	0	2	1	0	1	3	1	2	1	2	2	4	1	2	4	4			TCGA-EJ-5505-01A-01D-1576-08	TCGA-EJ-5505-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81a818c2-0b58-46fa-a0a7-6f7cf020ba45	7756bd88-7802-41a3-abcb-aed3b0481164	g.chr17:47696688T>G	ENST00000393328.2	-	5	625	c.260A>C	c.(259-261)tAc>tCc	p.Y87S	SPOP_ENST00000513080.1_5'UTR|SPOP_ENST00000503676.1_Missense_Mutation_p.Y87S|SPOP_ENST00000393331.3_Missense_Mutation_p.Y87S|SPOP_ENST00000504102.1_Missense_Mutation_p.Y87S|SPOP_ENST00000347630.2_Missense_Mutation_p.Y87S	NM_003563.3	NP_003554.1	O43791	SPOP_HUMAN	speckle-type POZ protein	87	MATH. {ECO:0000255|PROSITE- ProRule:PRU00129}.|Required for nuclear localization.				glucose homeostasis (GO:0042593)|positive regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902237)|positive regulation of type B pancreatic cell apoptotic process (GO:2000676)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	Cul3-RING ubiquitin ligase complex (GO:0031463)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	ubiquitin protein ligase binding (GO:0031625)	p.Y87C(2)|p.Y87S(2)		endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						CAGTAACAGGTAAAGTGACAG	0.403										Prostate(2;0.17)																												ENST00000393331.3																			4	Substitution - Missense(4)	p.Y87C(2)|p.Y87S(2)	prostate(4)	endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						c.(259-261)tAc>tCc		speckle-type POZ protein							114	107	109					17																	47696688		2203	4300	6503	SO:0001583	missense	8405				mRNA processing	nucleus	protein binding	g.chr17:47696688T>G	AJ000644	CCDS11551.1	17q21.33	2013-01-09			ENSG00000121067	ENSG00000121067		"BTB/POZ domain containing"	11254	protein-coding gene	gene with protein product		602650				9414087	Standard	NM_001007227		Approved	TEF2, BTBD32	uc002ipg.3	O43791	OTTHUMG00000161496	ENST00000393328.2:c.260A>C	17.37:g.47696688T>G	ENSP00000377001:p.Tyr87Ser	Prostate(2;0.17)				SPOP_ENST00000513080.1_5'UTR|SPOP_ENST00000347630.2_Missense_Mutation_p.Y87S|SPOP_ENST00000504102.1_Missense_Mutation_p.Y87S|SPOP_ENST00000503676.1_Missense_Mutation_p.Y87S|SPOP_ENST00000393328.2_Missense_Mutation_p.Y87S	p.Y87S	NM_001007226.1|NM_001007227.1	NP_001007227.1|NP_001007228.1	O43791	SPOP_HUMAN			6	730	-			87			MATH.|Required for nuclear localization.		B2R6S3|D3DTW7|Q53HJ1	Missense_Mutation	SNP	ENST00000393328.2	37	c.260A>C	CCDS11551.1	.	.	.	.	.	.	.	.	.	.	T	25.6	4.659213	0.88154	.	.	ENSG00000121067	ENST00000393328;ENST00000393331;ENST00000347630;ENST00000504102;ENST00000503676;ENST00000513872;ENST00000509079;ENST00000505581;ENST00000507970;ENST00000514121;ENST00000515508	T;T;T;T;T;T;T;T;T;T	0.69175	-0.38;-0.38;-0.38;-0.38;-0.38;-0.38;-0.38;-0.38;-0.38;-0.38	5.52	5.52	0.82312	TRAF-type (1);TRAF-like (1);MATH (3);	0.000000	0.85682	D	0.000000	D	0.84875	0.5569	M	0.90019	3.08	0.80722	D	1	P	0.46512	0.879	D	0.71870	0.975	D	0.86577	0.1851	10	0.51188	T	0.08	-9.2801	15.4649	0.75390	0.0:0.0:0.0:1.0	.	87	O43791	SPOP_HUMAN	S	87;87;87;87;87;40;87;87;87;87;87	ENSP00000377001:Y87S;ENSP00000377004:Y87S;ENSP00000240327:Y87S;ENSP00000425905:Y87S;ENSP00000420908:Y87S;ENSP00000426986:Y87S;ENSP00000420960:Y87S;ENSP00000426262:Y87S;ENSP00000424119:Y87S;ENSP00000426537:Y87S	ENSP00000240327:Y87S	Y	-	2	0	SPOP	45051687	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.864000	0.87037	2.317000	0.78254	0.460000	0.39030	TAC		0.403	SPOP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365154.2	NM_003563		44	199	0	0	0	1	0	44	199					G	47696688	T	G	47696688	3	3	54	1	0	0	0	0	1	0	0	0	15083	1638	57	5	892	5	SPOP	17	47696688	Missense_Mutation	SNP	T	TCGA-EJ-5505-01A-01D-1576-08		47696688	33498522	31	2847											
DNMT1	1786	broad.mit.edu	37	chr19	10265299	10265299	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cccagccagcttgatcaggtCccgcatgcagggtgtcagga	8	7	13	13	1	2	1	2	1	0	0	3	2	3	2	3	3	3	3	3	3	0	1			TCGA-EJ-5505-01A-01D-1576-08	TCGA-EJ-5505-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81a818c2-0b58-46fa-a0a7-6f7cf020ba45	7756bd88-7802-41a3-abcb-aed3b0481164	g.chr19:10265299C>T	ENST00000340748.4	-	20	1982	c.1747G>A	c.(1747-1749)Gac>Aac	p.D583N	DNMT1_ENST00000540357.1_Missense_Mutation_p.D583N|DNMT1_ENST00000359526.4_Missense_Mutation_p.D599N			P26358	DNMT1_HUMAN	DNA (cytosine-5-)-methyltransferase 1	583	Interaction with the PRC2/EED-EZH2 complex. {ECO:0000250}.				cellular response to amino acid stimulus (GO:0071230)|chromatin modification (GO:0016568)|DNA methylation (GO:0006306)|gene silencing (GO:0016458)|maintenance of DNA methylation (GO:0010216)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of gene expression (GO:0010628)|positive regulation of histone H3-K4 methylation (GO:0051571)|regulation of cell proliferation (GO:0042127)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)|replication fork (GO:0005657)	chromatin binding (GO:0003682)|DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA binding (GO:0003677)|DNA-methyltransferase activity (GO:0009008)|methyl-CpG binding (GO:0008327)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)	p.D583N(2)		breast(5)|endometrium(8)|kidney(5)|large_intestine(21)|lung(11)|ovary(2)|pancreas(1)|prostate(10)|skin(5)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06)		Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Procainamide(DB01035)	TTGATCAGGTCCCGCATGCAG	0.622																																						ENST00000340748.4																			2	Substitution - Missense(2)	p.D583N(2)	prostate(2)	breast(5)|endometrium(8)|kidney(5)|large_intestine(21)|lung(11)|ovary(2)|pancreas(1)|prostate(10)|skin(5)|stomach(1)|urinary_tract(1)	70						c.(1747-1749)Gac>Aac		DNA (cytosine-5-)-methyltransferase 1	Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Ifosfamide(DB01181)|Procainamide(DB01035)						67	57	60					19																	10265299		2203	4300	6503	SO:0001583	missense	1786				chromatin modification|maintenance of DNA methylation|negative regulation of histone H3-K9 methylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of gene expression|positive regulation of histone H3-K4 methylation|transcription, DNA-dependent	nucleus	DNA (cytosine-5-)-methyltransferase activity|DNA binding|transcription factor binding	g.chr19:10265299C>T	X63692	CCDS12228.1, CCDS45958.1	19p13.2	2014-09-17				ENSG00000130816	2.1.1.37		2976	protein-coding gene	gene with protein product		126375		DNMT		1594447	Standard	NM_001379		Approved	MCMT, CXXC9	uc010xlc.2	P26358		ENST00000340748.4:c.1747G>A	19.37:g.10265299C>T	ENSP00000345739:p.Asp583Asn					DNMT1_ENST00000540357.1_Missense_Mutation_p.D583N|DNMT1_ENST00000359526.4_Missense_Mutation_p.D599N	p.D583N			P26358	DNMT1_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06)		20	1982	-			583			Interaction with the PRC2/EED-EZH2 complex (By similarity).		A0AV63|B7ZLW6|Q9UHG5|Q9ULA2|Q9UMZ6	Missense_Mutation	SNP	ENST00000340748.4	37	c.1747G>A	CCDS12228.1	.	.	.	.	.	.	.	.	.	.	C	15.87	2.960018	0.53400	.	.	ENSG00000130816	ENST00000359526;ENST00000540357;ENST00000340748;ENST00000541266	T;T;T	0.23950	1.88;1.88;1.88	5.78	2.45	0.29901	.	0.191503	0.53938	N	0.000059	T	0.25531	0.0621	L	0.55481	1.735	0.44677	D	0.997664	P;P;P	0.44521	0.837;0.837;0.749	P;P;B	0.44597	0.454;0.454;0.266	T	0.01692	-1.1294	10	0.48119	T	0.1	.	7.3949	0.26931	0.1275:0.6817:0.1228:0.068	.	583;599;583	F5GX68;P26358-2;P26358	.;.;DNMT1_HUMAN	N	599;583;583;451	ENSP00000352516:D599N;ENSP00000440457:D583N;ENSP00000345739:D583N	ENSP00000345739:D583N	D	-	1	0	DNMT1	10126299	1.000000	0.71417	0.150000	0.22450	0.081000	0.17604	5.879000	0.69690	0.443000	0.26582	-0.165000	0.13383	GAC		0.622	DNMT1-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451166.1	NM_001379		25	98	0	0	0	1	0	25	98					T	10265299	C	T	10265299	3	4	54	1	0	0	0	0	1	0	0	0	4675	855	30	3	3187	3	DNMT1	19	10265299	Missense_Mutation	SNP	C	TCGA-EJ-5505-01A-01D-1576-08		10265299	48863684	32	2848											
CYP2A6	1548	broad.mit.edu	37	chr19	41351368	41351368	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcttgccgatcactctgtcaAtctcctcatggaccttggct	6	14	7	14	1	6	0	3	0	3	0	7	2	6	1	3	2	1	1	3	2	1	2	rs146206761	byFrequency	TCGA-EJ-5505-01A-01D-1576-08	TCGA-EJ-5505-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81a818c2-0b58-46fa-a0a7-6f7cf020ba45	7756bd88-7802-41a3-abcb-aed3b0481164	g.chr19:41351368A>G	ENST00000301141.5	-	7	1012	c.992T>C	c.(991-993)aTt>aCt	p.I331T	CTC-490E21.12_ENST00000601627.1_Intron	NM_000762.5	NP_000753	P11509	CP2A6_HUMAN	cytochrome P450, family 2, subfamily A, polypeptide 6	331					coumarin catabolic process (GO:0046226)|coumarin metabolic process (GO:0009804)|drug metabolic process (GO:0017144)|exogenous drug catabolic process (GO:0042738)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|xenobiotic metabolic process (GO:0006805)	cytoplasmic microtubule (GO:0005881)|endoplasmic reticulum membrane (GO:0005789)	coumarin 7-hydroxylase activity (GO:0008389)|enzyme binding (GO:0019899)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen (GO:0016712)	p.I331T(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(2)	37			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)		Acetaminophen(DB00316)|Amiodarone(DB01118)|Amlodipine(DB00381)|Amobarbital(DB01351)|Amphetamine(DB00182)|Antipyrine(DB01435)|Arformoterol(DB01274)|Azelastine(DB00972)|Azithromycin(DB00207)|Buprenorphine(DB00921)|Bupropion(DB01156)|Chlorzoxazone(DB00356)|Cinnarizine(DB00568)|Cisapride(DB00604)|Clofibrate(DB00636)|Clomifene(DB00882)|Clotrimazole(DB00257)|Clozapine(DB00363)|Cyclophosphamide(DB00531)|Dapagliflozin(DB06292)|Desipramine(DB01151)|Dexamethasone(DB01234)|Dexfenfluramine(DB01191)|Diethylstilbestrol(DB00255)|Dronabinol(DB00470)|Eletriptan(DB00216)|Ezogabine(DB04953)|Flunarizine(DB04841)|Flunitrazepam(DB01544)|Fluorouracil(DB00544)|Flurazepam(DB00690)|Fomepizole(DB01213)|Formoterol(DB00983)|Halothane(DB01159)|Ifosfamide(DB01181)|Isoniazid(DB00951)|Ketoconazole(DB01026)|Letrozole(DB01006)|Lidocaine(DB00281)|Lorcaserin(DB04871)|Memantine(DB01043)|Menadione(DB00170)|Methimazole(DB00763)|Methoxsalen(DB00553)|Methoxyflurane(DB01028)|Metyrapone(DB01011)|Miconazole(DB01110)|Montelukast(DB00471)|Nevirapine(DB00238)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Norfloxacin(DB01059)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Pilocarpine(DB01085)|Prednisolone(DB00860)|Progesterone(DB00396)|Propofol(DB00818)|Rifampicin(DB01045)|Rosiglitazone(DB00412)|Selegiline(DB01037)|Sevoflurane(DB01236)|Sulfaphenazole(DB06729)|Tamoxifen(DB00675)|Tranylcypromine(DB00752)|Tretinoin(DB00755)|Troleandomycin(DB01361)|Valproic Acid(DB00313)|Zidovudine(DB00495)	CACTCTGTCAATCTCCTCATG	0.537																																						ENST00000301141.5																			1	Substitution - Missense(1)	p.I331T(1)	prostate(1)	breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(2)	37						c.(991-993)aTt>aCt		cytochrome P450, family 2, subfamily A, polypeptide 6	Chlorzoxazone(DB00356)|Diethylstilbestrol(DB00255)|Estradiol(DB00783)|Ethinyl Estradiol(DB00977)|Formoterol(DB00983)|Halothane(DB01159)|Letrozole(DB01006)|Methoxsalen(DB00553)|Metyrapone(DB01011)|Nicotine(DB00184)|Pilocarpine(DB01085)|Tolbutamide(DB01124)|Tranylcypromine(DB00752)	A	THR/ILE	8,4398		0,8,2195	80	75	76		992	2.7	1	19	dbSNP_134	76	0,8594		0,0,4297	no	missense	CYP2A6	NM_000762.5	89	0,8,6492	GG,GA,AA		0.0,0.1816,0.0615	possibly-damaging	331/495	41351368	8,12992	2203	4297	6500	SO:0001583	missense	1548				coumarin catabolic process|exogenous drug catabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|coumarin 7-hydroxylase activity|electron carrier activity|enzyme binding|heme binding	g.chr19:41351368A>G	AF182275	CCDS12568.1	19q13.2	2013-11-11	2003-01-14		ENSG00000255974	ENSG00000255974		"Cytochrome P450s"	2610	protein-coding gene	gene with protein product		122720	"cytochrome P450, subfamily IIA (phenobarbital-inducible), polypeptide 6"	CYP2A3		7668294, 2748347	Standard	NM_000762		Approved	CPA6, CYP2A	uc002opl.4	P11509	OTTHUMG00000182713	ENST00000301141.5:c.992T>C	19.37:g.41351368A>G	ENSP00000301141:p.Ile331Thr					CTC-490E21.12_ENST00000601627.1_Intron	p.I331T	NM_000762.5	NP_000753.3	P11509	CP2A6_HUMAN	LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)		7	1012	-			331					A7YAE5|B2R7F6|P00190|P10890|Q16803|Q4VAT9|Q4VAU0|Q4VAU1|Q9H1Z7|Q9UCU0|Q9UK48	Missense_Mutation	SNP	ENST00000301141.5	37	c.992T>C	CCDS12568.1	.	.	.	.	.	.	.	.	.	.	-	13.44	2.238866	0.39598	0.001816	0.0	ENSG00000255974	ENST00000301141	T	0.73789	-0.78	2.65	2.65	0.31530	.	0.000000	0.85682	U	0.000000	T	0.81014	0.4735	M	0.81614	2.55	0.39143	D	0.962079	D;B	0.53745	0.962;0.141	P;B	0.54706	0.759;0.159	D	0.84012	0.0349	10	0.87932	D	0	.	10.195	0.43049	1.0:0.0:0.0:0.0	.	331;331	Q13120;P11509	.;CP2A6_HUMAN	T	331	ENSP00000301141:I331T	ENSP00000301141:I331T	I	-	2	0	CYP2A6	46043208	1.000000	0.71417	0.992000	0.48379	0.813000	0.45954	8.494000	0.90477	1.167000	0.42706	0.312000	0.20444	ATT		0.537	CYP2A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463259.1	NM_000762		5	173	0	0	0	1	0	5	173					G	41351368	A	G	41351368	3	3	54	1	0	0	0	0	1	0	0	0	4162	101	4	4	504	4	CYP2A6	19	41351368	Missense_Mutation	SNP	A	TCGA-EJ-5505-01A-01D-1576-08	31086069	41351368	17777615	33	2849											
LIG1	3978	broad.mit.edu	37	chr19	48654539	48654539	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tgggctggtccccgtcttctCcttccttctctgtggccact	1	15	9	16	1	3	0	0	0	3	0	7	0	5	0	5	3	0	1	5	3	0	3			TCGA-EJ-5505-01A-01D-1576-08	TCGA-EJ-5505-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81a818c2-0b58-46fa-a0a7-6f7cf020ba45	7756bd88-7802-41a3-abcb-aed3b0481164	g.chr19:48654539C>T	ENST00000263274.7	-	7	943	c.524G>A	c.(523-525)gGa>gAa	p.G175E	LIG1_ENST00000536218.1_Intron|LIG1_ENST00000427526.2_Missense_Mutation_p.G144E|LIG1_ENST00000599165.1_5'UTR	NM_000234.1	NP_000225.1	P18858	DNLI1_HUMAN	ligase I, DNA, ATP-dependent	175					anatomical structure morphogenesis (GO:0009653)|base-excision repair (GO:0006284)|cell division (GO:0051301)|DNA biosynthetic process (GO:0071897)|DNA ligation involved in DNA repair (GO:0051103)|DNA metabolic process (GO:0006259)|DNA repair (GO:0006281)|DNA strand elongation involved in DNA replication (GO:0006271)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|double-strand break repair via nonhomologous end joining (GO:0006303)|lagging strand elongation (GO:0006273)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|response to hydrogen peroxide (GO:0042542)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	chromosome (GO:0005694)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA ligase (ATP) activity (GO:0003910)|DNA ligase activity (GO:0003909)|metal ion binding (GO:0046872)	p.G175E(2)		breast(1)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(22)|prostate(2)|skin(1)	44		all_epithelial(76;3.1e-06)|all_lung(116;4.39e-06)|Lung NSC(112;8.96e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;8.45e-05)|all cancers(93;0.000423)|Epithelial(262;0.0177)|GBM - Glioblastoma multiforme(486;0.0329)	Bleomycin(DB00290)	CCCGTCTTCTCCTTCCTTCTC	0.567								Nucleotide excision repair (NER)																														ENST00000263274.7																			2	Substitution - Missense(2)	p.G175E(2)	prostate(2)	breast(1)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(22)|prostate(2)|skin(1)	44						c.(523-525)gGa>gAa	Nucleotide excision repair (NER)	ligase I, DNA, ATP-dependent	Bleomycin(DB00290)						148	136	140					19																	48654539		2203	4300	6503	SO:0001583	missense	3978				anatomical structure morphogenesis|base-excision repair|cell division|DNA ligation involved in DNA repair|DNA strand elongation involved in DNA replication|double-strand break repair via homologous recombination|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding	g.chr19:48654539C>T		CCDS12711.1, CCDS74409.1, CCDS74410.1	19q13.2-q13.3	2014-09-17				ENSG00000105486	6.5.1.1		6598	protein-coding gene	gene with protein product		126391					Standard	XM_005258934		Approved		uc002pia.1	P18858		ENST00000263274.7:c.524G>A	19.37:g.48654539C>T	ENSP00000263274:p.Gly175Glu					LIG1_ENST00000599165.1_5'UTR|LIG1_ENST00000427526.2_Missense_Mutation_p.G144E|LIG1_ENST00000536218.1_Intron	p.G175E	NM_000234.1	NP_000225.1	P18858	DNLI1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;8.45e-05)|all cancers(93;0.000423)|Epithelial(262;0.0177)|GBM - Glioblastoma multiforme(486;0.0329)	7	943	-		all_epithelial(76;3.1e-06)|all_lung(116;4.39e-06)|Lung NSC(112;8.96e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)	175					B2RAI8|Q2TB12|Q32P23	Missense_Mutation	SNP	ENST00000263274.7	37	c.524G>A	CCDS12711.1	.	.	.	.	.	.	.	.	.	.	C	0.206	-1.040893	0.02013	.	.	ENSG00000105486	ENST00000263274;ENST00000544761;ENST00000427526;ENST00000542460	T;T;T	0.55234	0.63;0.53;2.05	4.54	-6.99	0.01605	.	0.866304	0.10081	N	0.718428	T	0.13415	0.0325	N	0.02011	-0.69	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.33059	-0.9883	10	0.02654	T	1	0.5443	1.2168	0.01916	0.1848:0.3454:0.1831:0.2867	.	144;175	B4DTU4;P18858	.;DNLI1_HUMAN	E	175;206;144;143	ENSP00000263274:G175E;ENSP00000442841:G144E;ENSP00000445928:G143E	ENSP00000263274:G175E	G	-	2	0	LIG1	53346351	0.000000	0.05858	0.001000	0.08648	0.004000	0.04260	-0.207000	0.09384	-0.740000	0.04803	-1.099000	0.02127	GGA		0.567	LIG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465575.1	NM_000234		66	248	0	0	0	1	0	66	248					T	48654539	C	T	48654539	3	4	54	1	0	0	0	0	1	0	0	0	8781	855	30	3	2323	3	LIG1	19	48654539	Missense_Mutation	SNP	C	TCGA-EJ-5505-01A-01D-1576-08	7303171	48654539	10474444	34	2850											
ADRA1D	146	broad.mit.edu	37	chr20	4202306	4202306	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggcgcacgctgcctctgcgCgctgcgcgcccccggcgcgg	1	4	17	19	9	1	0	0	0	1	0	1	0	1	0	3	3	3	3	3	3	0	0			TCGA-EJ-5505-01A-01D-1576-08	TCGA-EJ-5505-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81a818c2-0b58-46fa-a0a7-6f7cf020ba45	7756bd88-7802-41a3-abcb-aed3b0481164	g.chr20:4202306C>T	ENST00000379453.4	-	2	1699	c.1583G>A	c.(1582-1584)cGc>cAc	p.R528H		NM_000678.3	NP_000669.1	P25100	ADA1D_HUMAN	adrenoceptor alpha 1D	528				KPPSAFREWRLLGPFRRPTTQLRAKVSSLSHKIRAGGAQRA EAACAQRSEVEAVSLGVPHEVAEGATCQAYELADYSNLRET DI -> SHPAPSASGGCWGRSGDPRPSCAPKSPACRTRSPP GARSAQRQRAPSAQRWRLCP (in Ref. 1). {ECO:0000305}.	adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|adrenergic receptor signaling pathway (GO:0071875)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|DNA metabolic process (GO:0006259)|G-protein coupled receptor signaling pathway (GO:0007186)|multicellular organismal development (GO:0007275)|negative regulation of the force of heart contraction involved in baroreceptor response to increased systemic arterial blood pressure (GO:0001986)|norepinephrine-epinephrine vasoconstriction involved in regulation of systemic arterial blood pressure (GO:0001994)|positive regulation of cell proliferation (GO:0008284)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	alpha1-adrenergic receptor activity (GO:0004937)	p.R528H(1)		endometrium(1)|large_intestine(2)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	14					Alfuzosin(DB00346)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Amphetamine(DB00182)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Clonidine(DB00575)|Dapiprazole(DB00298)|Desipramine(DB01151)|Doxazosin(DB00590)|Doxepin(DB01142)|Dronedarone(DB04855)|Droxidopa(DB06262)|Epinephrine(DB00668)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Imipramine(DB00458)|Labetalol(DB00598)|Maprotiline(DB00934)|Mephentermine(DB01365)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Mianserin(DB06148)|Midodrine(DB00211)|Mirtazapine(DB00370)|Nicardipine(DB00622)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Oxymetazoline(DB00935)|Pergolide(DB01186)|Phenoxybenzamine(DB00925)|Phenylephrine(DB00388)|Prazosin(DB00457)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Sertindole(DB06144)|Silodosin(DB06207)|Tamsulosin(DB00706)|Terazosin(DB01162)|Xylometazoline(DB06694)	TGCCTCTGCGCGCTGCGCGCC	0.716																																						ENST00000379453.4																			1	Substitution - Missense(1)	p.R528H(1)	prostate(1)	endometrium(1)|large_intestine(2)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	14						c.(1582-1584)cGc>cAc		adrenoceptor alpha 1D	Alfuzosin(DB00346)|Bethanidine(DB00217)|Dapiprazole(DB00298)|Debrisoquin(DB04840)|Doxazosin(DB00590)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Methotrimeprazine(DB01403)|Norepinephrine(DB00368)|Promazine(DB00420)|Propericiazine(DB01608)|Propiomazine(DB00777)|Sertindole(DB06144)|Tamsulosin(DB00706)|Terazosin(DB01162)						18	20	19					20																	4202306		2179	4255	6434	SO:0001583	missense	146				cell proliferation|cell-cell signaling|DNA metabolic process|G-protein signaling, coupled to cAMP nucleotide second messenger|multicellular organismal development|positive regulation of cell proliferation	integral to plasma membrane	alpha1-adrenergic receptor activity	g.chr20:4202306C>T	U03864	CCDS13079.1	20p13	2012-08-08	2012-05-09		ENSG00000171873	ENSG00000171873		"GPCR / Class A : Adrenoceptors : alpha"	280	protein-coding gene	gene with protein product		104219	"adrenergic, alpha-1D-, receptor"			8039425	Standard	NM_000678		Approved	ADRA1R, ADRA1A, ADRA1	uc002wkr.2	P25100	OTTHUMG00000031779	ENST00000379453.4:c.1583G>A	20.37:g.4202306C>T	ENSP00000368766:p.Arg528His						p.R528H	NM_000678.3	NP_000669.1	P25100	ADA1D_HUMAN			2	1699	-			528	KPPSAFREWRLLGPFRRPTTQLRAKVSSLSHKIRAGGAQRA EAACAQRSEVEAVSLGVPHEVAEGATCQAYELADYSNLRET DI -> SHPAPSASGGCWGRSGDPRPSCAPKSPACRTRSPP GARSAQRQRAPSAQRWRLCP (in Ref. 1).				Q9NPY0	Missense_Mutation	SNP	ENST00000379453.4	37	c.1583G>A	CCDS13079.1	.	.	.	.	.	.	.	.	.	.	C	13.09	2.133089	0.37630	.	.	ENSG00000171873	ENST00000379453	T	0.59502	0.26	3.06	1.98	0.26296	.	4.556250	0.01093	U	0.005239	T	0.36358	0.0964	N	0.22421	0.69	0.09310	N	1	P	0.49358	0.923	B	0.28638	0.092	T	0.47873	-0.9083	10	0.48119	T	0.1	.	5.1119	0.14813	0.2333:0.539:0.2277:0.0	.	528	P25100	ADA1D_HUMAN	H	528	ENSP00000368766:R528H	ENSP00000368766:R528H	R	-	2	0	ADRA1D	4150306	0.848000	0.29623	0.546000	0.28166	0.716000	0.41182	0.881000	0.28173	1.681000	0.50988	0.305000	0.20034	CGC		0.716	ADRA1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077812.2	NM_000678		18	62	0	0	0	1	0	18	62					T	4202306	C	T	4202306	3	4	54	1	0	0	0	0	1	0	0	0	336	768	27	1	139	1	ADRA1D	20	4202306	Missense_Mutation	SNP	C	TCGA-EJ-5505-01A-01D-1576-08		4202306	58823214	35	2851											
RALGAPA2	57186	broad.mit.edu	37	chr20	20591999	20592002	+	Frame_Shift_Del	DEL	TTTA	TTTA	-																															agctctgggcaaacaagtccTttatttgtttatcctttggc																										TCGA-EJ-5505-01A-01D-1576-08	TCGA-EJ-5505-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81a818c2-0b58-46fa-a0a7-6f7cf020ba45	7756bd88-7802-41a3-abcb-aed3b0481164	g.chr20:20591999_20592002delTTTA	ENST00000202677.7	-	14	1764_1767	c.1757_1760delTAAA	c.(1756-1761)ataaagfs	p.IK586fs		NM_020343.3	NP_065076.2	Q2PPJ7	RGPA2_HUMAN	Ral GTPase activating protein, alpha subunit 2 (catalytic)	586					activation of Ral GTPase activity (GO:0032859)|membrane organization (GO:0061024)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	protein heterodimerization activity (GO:0046982)|Ral GTPase activator activity (GO:0017123)			endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	54						AAACAAGTCCTTTATTTGTTTATC	0.382																																						ENST00000202677.6																			0				endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	54						c.(1756-1761)agfs		Ral GTPase activating protein, alpha subunit 2 (catalytic)																																				SO:0001589	frameshift_variant	57186				activation of Ral GTPase activity	cytosol|nucleus	protein heterodimerization activity|Ral GTPase activator activity	g.chr20:20591999_20592002delTTTA	AL078634, DQ310704	CCDS46584.1	20p11.23	2009-09-09	2009-09-09	2009-09-09	ENSG00000188559	ENSG00000188559			16207	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 74"	C20orf74		16490346, 19520869	Standard	NM_020343		Approved	dJ1049G11.4, AS250, KIAA1272, RapGAPalpha2	uc002wrz.3	Q2PPJ7	OTTHUMG00000032010	ENST00000202677.7:c.1757_1760delTAAA	20.37:g.20591999_20592002delTTTA	ENSP00000202677:p.Ile586fs						p.IK586fs	NM_020343.3	NP_065076.2	Q2PPJ7	RGPA2_HUMAN			14	1899_1902	-			586					Q4VXU6|Q5JUA3|Q5JUA4|Q5T9K3|Q96CX9|Q9BQT7|Q9H9D9|Q9ULE8	Frame_Shift_Del	DEL	ENST00000202677.7	37	c.1757_1760delTAAA	CCDS46584.1																																																																																				0.382	RALGAPA2-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000471941.1	NM_020343		8	773						8	773	---	---	---	---	-	20592002	TTTA	-	20591999	7	5	54	1	0	1	0	1	0	0	0	0	13014	1609	56	0	3965	0	RALGAPA2	20	20591999	Frame_Shift_Del	DEL	TTTA	TCGA-EJ-5505-01A-01D-1576-08	16389693	20591999	42433521	36	2852											
RTN4R	65078	broad.mit.edu	37	chr22	20230164	20230164	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcaggcagtgcctgcagcgcGttgtcctgcaggtagaggta	7	9	15	10	2	1	1	1	0	0	1	2	1	2	1	2	3	4	6	2	3	2	3	rs368044171		TCGA-EJ-5505-01A-01D-1576-08	TCGA-EJ-5505-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81a818c2-0b58-46fa-a0a7-6f7cf020ba45	7756bd88-7802-41a3-abcb-aed3b0481164	g.chr22:20230164G>T	ENST00000043402.7	-	2	930	c.492C>A	c.(490-492)aaC>aaA	p.N164K	RTN4R_ENST00000469601.1_5'UTR	NM_023004.5	NP_075380.1	Q9BZR6	RTN4R_HUMAN	reticulon 4 receptor	164					axonogenesis (GO:0007409)|negative regulation of axonogenesis (GO:0050771)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of axonogenesis (GO:0050770)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)	p.N164K(1)		lung(1)|ovary(1)|prostate(1)	3	Colorectal(54;0.0993)					CCTGCAGCGCGTTGTCCTGCA	0.687																																						ENST00000043402.7																			1	Substitution - Missense(1)	p.N164K(1)	prostate(1)	lung(1)|ovary(1)|prostate(1)	3						c.(490-492)aaC>aaA		reticulon 4 receptor							56	47	50					22																	20230164		2203	4300	6503	SO:0001583	missense	65078				axonogenesis|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway	anchored to membrane|cell surface|endoplasmic reticulum|plasma membrane	protein binding|receptor activity	g.chr22:20230164G>T	AF283463	CCDS13777.1	22q11	2008-05-02			ENSG00000040608	ENSG00000040608			18601	protein-coding gene	gene with protein product		605566				11201742	Standard	NM_023004		Approved	NOGOR	uc002zrv.3	Q9BZR6	OTTHUMG00000150572	ENST00000043402.7:c.492C>A	22.37:g.20230164G>T	ENSP00000043402:p.Asn164Lys					RTN4R_ENST00000469601.1_5'UTR	p.N164K	NM_023004.5	NP_075380.1	Q9BZR6	RTN4R_HUMAN			2	930	-	Colorectal(54;0.0993)		164					D3DX28	Missense_Mutation	SNP	ENST00000043402.7	37	c.492C>A	CCDS13777.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.26|16.26	3.073151|3.073151	0.55646|0.55646	.|.	.|.	ENSG00000040608|ENSG00000040608	ENST00000043402|ENST00000416372;ENST00000425986	T|.	0.74421|.	-0.84|.	4.1|4.1	-1.7|-1.7	0.08159|0.08159	.|.	0.000000|.	0.38959|.	N|.	0.001506|.	T|T	0.77928|0.77928	0.4204|0.4204	H|H	0.98951|0.98951	4.38|4.38	0.28337|0.28337	N|N	0.921514|0.921514	D|.	0.89917|.	1.0|.	D|.	0.97110|.	1.0|.	T|T	0.70124|0.70124	-0.4958|-0.4958	10|5	0.62326|.	D|.	0.03|.	.|.	8.3047|8.3047	0.32036|0.32036	0.4504:0.0:0.5496:0.0|0.4504:0.0:0.5496:0.0	.|.	164|.	Q9BZR6|.	RTN4R_HUMAN|.	K|K	164|184;250	ENSP00000043402:N164K|.	ENSP00000043402:N164K|.	N|T	-|-	3|2	2|0	RTN4R|RTN4R	18610164|18610164	0.000000|0.000000	0.05858|0.05858	0.041000|0.041000	0.18516|0.18516	0.923000|0.923000	0.55619|0.55619	-0.873000|-0.873000	0.04214|0.04214	-0.321000|-0.321000	0.08627|0.08627	0.561000|0.561000	0.74099|0.74099	AAC|ACG		0.687	RTN4R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318950.2			11	52	1	0	6.40141e-05	1	6.52451e-05	11	52					T	20230164	G	T	20230164	3	4	54	1	0	0	0	0	1	0	0	0	13730	1136	40	5	933	5	RTN4R	22	20230164	Missense_Mutation	SNP	G	TCGA-EJ-5505-01A-01D-1576-08		20230164	31074402	37	2853											
HCFC1	3054	broad.mit.edu	37	chrX	153224170	153224170	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctgggtggcagcggccgcAgcggccagtgcggccatccc	4	6	16	15	4	1	0	0	0	1	0	2	0	2	0	4	5	3	2	4	5	0	1	rs367802085		TCGA-EJ-5505-01A-01D-1576-08	TCGA-EJ-5505-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81a818c2-0b58-46fa-a0a7-6f7cf020ba45	7756bd88-7802-41a3-abcb-aed3b0481164	g.chrX:153224170A>C	ENST00000310441.7	-	10	2619	c.1653T>G	c.(1651-1653)gcT>gcG	p.A551A	HCFC1_ENST00000369984.4_Silent_p.A551A|HCFC1_ENST00000461098.1_5'Flank|HCFC1_ENST00000354233.3_Silent_p.A482A	NM_005334.2	NP_005325.2	P51610	HCFC1_HUMAN	host cell factor C1	551					cell cycle (GO:0007049)|chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell cycle (GO:0045787)|positive regulation of gene expression (GO:0010628)|protein stabilization (GO:0050821)|regulation of protein complex assembly (GO:0043254)|regulation of transcription, DNA-templated (GO:0006355)|release from viral latency (GO:0019046)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|membrane (GO:0016020)|mitochondrion (GO:0005739)|MLL1 complex (GO:0071339)|MLL5-L complex (GO:0070688)|neuronal cell body (GO:0043025)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)	chromatin binding (GO:0003682)|identical protein binding (GO:0042802)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)	p.A551A(1)|p.A452A(1)		NS(1)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(3)|large_intestine(3)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CAGCGGCCGCAGCGGCCAGTG	0.657																																						ENST00000310441.7																			2	Substitution - coding silent(2)	p.A551A(1)|p.A452A(1)	prostate(2)	NS(1)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(3)|large_intestine(3)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						c.(1651-1653)gcT>gcG		host cell factor C1 (VP16-accessory protein)							22	28	26					X																	153224170		2076	4177	6253	SO:0001819	synonymous_variant	3054				cell cycle|interspecies interaction between organisms|positive regulation of cell cycle|positive regulation of gene expression|protein stabilization|reactivation of latent virus|regulation of protein complex assembly|transcription from RNA polymerase II promoter	mitochondrion|MLL1 complex|MLL5-L complex|Set1C/COMPASS complex	chromatin binding|identical protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chrX:153224170A>C		CCDS44020.1	Xq28	2014-06-12	2014-06-09		ENSG00000172534	ENSG00000172534			4839	protein-coding gene	gene with protein product	"VP16-accessory protein", "protein phosphatase 1, regulatory subunit 89"	300019	"mental retardation, X-linked 3", "host cell factor C1 (VP16-accessory protein)"	HFC1, MRX3		8392914, 23000143	Standard	XM_005274664		Approved	HCF-1, HCF1, CFF, VCAF, MGC70925, PPP1R89	uc004fjp.3	P51610	OTTHUMG00000024222	ENST00000310441.7:c.1653T>G	X.37:g.153224170A>C						HCFC1_ENST00000354233.3_Silent_p.A482A|HCFC1_ENST00000369984.4_Silent_p.A551A	p.A551A	NM_005334.2	NP_005325.2	P51610	HCFC1_HUMAN			10	2619	-	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		551					Q6P4G5	Silent	SNP	ENST00000310441.7	37	c.1653T>G	CCDS44020.1																																																																																				0.657	HCFC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061099.4	NM_005334		14	16	0	0	0	1	0	14	16					C	153224170	A	C	153224170	2	2	54	1	0	0	0	0	0	0	0	1	6991	175	7	5		5	HCFC1	23	153224170	Silent	SNP	A	TCGA-EJ-5505-01A-01D-1576-08		153224170	2046390	38	2854											
SGIP1	84251	broad.mit.edu	37	chr1	67137639	67137639	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcatcaggtgaagaagtggCaagacccaggcgttccacac	12	6	12	11	1	1	3	1	1	0	2	2	3	2	3	2	3	1	3	2	3	3	1			TCGA-EJ-5506-01A-01D-1576-08	TCGA-EJ-5506-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f5e6063-d19e-4f56-b3f9-5c2260d3bfc9	30a0b8d5-11a9-4367-9979-d2c6906f30cc	g.chr1:67137639C>A	ENST00000371037.4	+	11	598	c.521C>A	c.(520-522)gCa>gAa	p.A174E	SGIP1_ENST00000371036.3_Missense_Mutation_p.A141E|SGIP1_ENST00000468286.1_3'UTR|AL139147.1_ENST00000502413.2_Intron|SGIP1_ENST00000237247.6_Missense_Mutation_p.A178E|SGIP1_ENST00000371039.1_Missense_Mutation_p.A142E|SGIP1_ENST00000371035.3_Missense_Mutation_p.A131E	NM_032291.2	NP_115667.2	Q9BQI5	SGIP1_HUMAN	SH3-domain GRB2-like (endophilin) interacting protein 1	174					endocytosis (GO:0006897)|membrane tubulation (GO:0097320)|positive regulation of energy homeostasis (GO:2000507)|positive regulation of feeding behavior (GO:2000253)|positive regulation of receptor-mediated endocytosis (GO:0048260)|response to dietary excess (GO:0002021)	AP-2 adaptor complex (GO:0030122)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	microtubule binding (GO:0008017)|phospholipid binding (GO:0005543)|SH3 domain binding (GO:0017124)	p.A142E(1)|p.A174E(1)		breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(43)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	71						GAAGAAGTGGCAAGACCCAGG	0.378																																						ENST00000371037.4																			2	Substitution - Missense(2)	p.A142E(1)|p.A174E(1)	prostate(2)	breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(43)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	71						c.(520-522)gCa>gAa		SH3-domain GRB2-like (endophilin) interacting protein 1							112	108	109					1																	67137639		2203	4300	6503	SO:0001583	missense	84251				positive regulation of energy homeostasis|positive regulation of feeding behavior|positive regulation of receptor-mediated endocytosis|response to dietary excess	AP-2 adaptor complex	microtubule binding|phospholipid binding|SH3 domain binding	g.chr1:67137639C>A	AL136561	CCDS30744.1	1p31.3	2008-02-05			ENSG00000118473	ENSG00000118473			25412	protein-coding gene	gene with protein product		611540				11230166	Standard	NM_032291		Approved	DKFZp761D221	uc001dcr.3	Q9BQI5	OTTHUMG00000009161	ENST00000371037.4:c.521C>A	1.37:g.67137639C>A	ENSP00000360076:p.Ala174Glu					SGIP1_ENST00000371035.3_Missense_Mutation_p.A131E|SGIP1_ENST00000371036.3_Missense_Mutation_p.A141E|AL139147.1_ENST00000502413.2_Intron|SGIP1_ENST00000371039.1_Missense_Mutation_p.A142E|SGIP1_ENST00000237247.6_Missense_Mutation_p.A178E|SGIP1_ENST00000468286.1_3'UTR	p.A174E	NM_032291.2	NP_115667.2	Q9BQI5	SGIP1_HUMAN			11	598	+			174					A6NL81|A6NLD1|Q4LE32|Q5VYE2|Q5VYE3|Q5VYE4|Q68D76|Q6MZY6|Q8IWC2	Missense_Mutation	SNP	ENST00000371037.4	37	c.521C>A	CCDS30744.1	.	.	.	.	.	.	.	.	.	.	C	19.73	3.881115	0.72294	.	.	ENSG00000118473	ENST00000237247;ENST00000371039;ENST00000424320;ENST00000371035;ENST00000371038;ENST00000407289;ENST00000371036;ENST00000371037	T;T;T;T;T;T	0.03242	4.0;4.0;4.0;4.0;4.0;4.0	5.53	4.62	0.57501	.	0.099543	0.64402	D	0.000002	T	0.02455	0.0075	L	0.49126	1.545	0.44462	D	0.997399	B	0.20550	0.046	B	0.27500	0.08	T	0.36672	-0.9738	10	0.44086	T	0.13	-10.4226	14.4932	0.67665	0.0:0.9292:0.0:0.0708	.	174	Q9BQI5	SGIP1_HUMAN	E	178;142;166;131;177;177;141;174	ENSP00000237247:A178E;ENSP00000360078:A142E;ENSP00000410439:A166E;ENSP00000360074:A131E;ENSP00000360075:A141E;ENSP00000360076:A174E	ENSP00000237247:A178E	A	+	2	0	SGIP1	66910227	1.000000	0.71417	0.989000	0.46669	0.998000	0.95712	4.571000	0.60879	1.336000	0.45506	0.563000	0.77884	GCA		0.378	SGIP1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000025395.4	NM_032291		3	77	1	0	1	1	1	3	77					A	67137639	C	A	67137639	3	1	55	1	0	0	0	0	1	0	0	0	14206	710	25	5	563	5	SGIP1	1	67137639	Missense_Mutation	SNP	C	TCGA-EJ-5506-01A-01D-1576-08		67137639	182112982	1	2855											
OBSCN	84033	broad.mit.edu	37	chr1	228528530	228528530	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgctgagaacaagctgcacGtgtccctcatggagaactac	11	7	11	12	2	1	2	1	1	0	2	2	4	2	2	1	1	5	3	1	1	4	1	rs201876707		TCGA-EJ-5506-01A-01D-1576-08	TCGA-EJ-5506-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f5e6063-d19e-4f56-b3f9-5c2260d3bfc9	30a0b8d5-11a9-4367-9979-d2c6906f30cc	g.chr1:228528530G>A	ENST00000422127.1	+	72	17682	c.17638G>A	c.(17638-17640)Gtg>Atg	p.V5880M	OBSCN_ENST00000570156.2_Missense_Mutation_p.V6837M|OBSCN_ENST00000366709.4_Missense_Mutation_p.V2999M|OBSCN_ENST00000366707.4_Missense_Mutation_p.V3514M|OBSCN_ENST00000284548.11_Missense_Mutation_p.V5880M	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	5880					apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)	p.V6462M(1)		NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CAAGCTGCACGTGTCCCTCAT	0.672													G|||	1	0.000199681	8e-04	0	5008	,	,		15738	0		0	False		,,,				2504	0					ENST00000570156.2																			1	Substitution - Missense(1)	p.V6462M(1)	prostate(1)	NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223						c.(20509-20511)Gtg>Atg		obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF		G	MET/VAL,MET/VAL	6,4050		0,6,2022	16	19	18		17638,17638	4.1	1	1		18	0,8348		0,0,4174	yes	missense,missense	OBSCN	NM_001098623.1,NM_052843.2	21,21	0,6,6196	AA,AG,GG		0.0,0.1479,0.0484	probably-damaging,probably-damaging	5880/7969,5880/6621	228528530	6,12398	2028	4174	6202	SO:0001583	missense	84033				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	g.chr1:228528530G>A	AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"Rho guanine nucleotide exchange factors", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.17638G>A	1.37:g.228528530G>A	ENSP00000409493:p.Val5880Met					OBSCN_ENST00000422127.1_Missense_Mutation_p.V5880M|OBSCN_ENST00000366709.4_Missense_Mutation_p.V2999M|OBSCN_ENST00000366707.4_Missense_Mutation_p.V3514M|OBSCN_ENST00000284548.11_Missense_Mutation_p.V5880M	p.V6837M	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN			83	20583	+		Prostate(94;0.0405)	5880					Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Missense_Mutation	SNP	ENST00000422127.1	37	c.20509G>A	CCDS58065.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	23.2|23.2	4.389209|4.389209	0.82902|0.82902	0.001479|0.001479	0.0|0.0	ENSG00000154358|ENSG00000154358	ENST00000441106|ENST00000284548;ENST00000422127;ENST00000366707;ENST00000366709	.|T;T;T;T	.|0.62941	.|0.37;-0.01;0.03;0.51	5.04|5.04	4.12|4.12	0.48240|0.48240	.|.	.|0.082233	.|0.48286	.|D	.|0.000193	T|T	0.70806|0.70806	0.3266|0.3266	L|L	0.59436|0.59436	1.845|1.845	0.43018|0.43018	D|D	0.994563|0.994563	.|D;D	.|0.76494	.|0.997;0.999	.|P;P	.|0.57324	.|0.743;0.818	T|T	0.75271|0.75271	-0.3376|-0.3376	5|10	.|0.72032	.|D	.|0.01	.|.	14.0163|14.0163	0.64525|0.64525	0.0:0.151:0.849:0.0|0.0:0.151:0.849:0.0	.|.	.|5880;5880	.|Q5VST9;Q5VST9-3	.|OBSCN_HUMAN;.	H|M	496|5880;5880;3514;2999	.|ENSP00000284548:V5880M;ENSP00000409493:V5880M;ENSP00000355668:V3514M;ENSP00000355670:V2999M	.|ENSP00000284548:V5880M	R|V	+|+	2|1	0|0	OBSCN|OBSCN	226595153|226595153	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.385000|0.385000	0.30292|0.30292	4.506000|4.506000	0.60428|0.60428	1.347000|1.347000	0.45714|0.45714	0.555000|0.555000	0.69702|0.69702	CGT|GTG		0.672	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843		4	9	0	0	0	1	0	4	9					A	228528530	G	A	228528530	3	1	55	1	0	0	0	0	1	0	0	0	10812	1145	40	1	17920	1	OBSCN	1	228528530	Missense_Mutation	SNP	G	TCGA-EJ-5506-01A-01D-1576-08	161390891	228528530	20722091	2	2856											
PDCD1	5133	broad.mit.edu	37	chr2	242794939	242794939	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	acacggaagcggcagtcctgGccgggctggctgcggtcctc	5	6	16	14	4	0	0	0	0	0	0	3	1	2	1	3	6	2	3	3	6	1	0			TCGA-EJ-5506-01A-01D-1576-08	TCGA-EJ-5506-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f5e6063-d19e-4f56-b3f9-5c2260d3bfc9	30a0b8d5-11a9-4367-9979-d2c6906f30cc	g.chr2:242794939G>T	ENST00000334409.5	-	2	339	c.270C>A	c.(268-270)ggC>ggA	p.G90G		NM_005018.2	NP_005009.2	Q15116	PDCD1_HUMAN	programmed cell death 1	90	Ig-like V-type.				apoptotic process (GO:0006915)|humoral immune response (GO:0006959)|multicellular organismal development (GO:0007275)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	signal transducer activity (GO:0004871)	p.G90G(1)		endometrium(1)|lung(2)|ovary(1)|prostate(3)|skin(1)	8		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;3.84e-33)|all cancers(36;8.08e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.41e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0219)		GGCAGTCCTGGCCGGGCTGGC	0.647																																						ENST00000334409.5																			1	Substitution - coding silent(1)	p.G90G(1)	prostate(1)	endometrium(1)|lung(2)|ovary(1)|prostate(3)|skin(1)	8						c.(268-270)ggC>ggA		programmed cell death 1							41	42	42					2																	242794939		2203	4300	6503	SO:0001819	synonymous_variant	5133				apoptosis|humoral immune response|multicellular organismal development|T cell costimulation	integral to membrane	protein tyrosine phosphatase activity|signal transducer activity	g.chr2:242794939G>T	AY206416	CCDS33428.1	2q37.3	2014-01-29			ENSG00000188389	ENSG00000188389		"CD molecules", "Immunoglobulin superfamily / V-set domain containing"	8760	protein-coding gene	gene with protein product		600244	"systemic lupus erythematosus susceptibility 2"	SLEB2		7851902, 12402038	Standard	NM_005018		Approved	CD279, PD1, hSLE1	uc002wcq.4	Q15116	OTTHUMG00000151342	ENST00000334409.5:c.270C>A	2.37:g.242794939G>T							p.G90G	NM_005018.2	NP_005009.2	Q15116	PDCD1_HUMAN		Epithelial(32;3.84e-33)|all cancers(36;8.08e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.41e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0219)	2	339	-		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)	90			Ig-like V-type.		O00517|Q8IX89	Silent	SNP	ENST00000334409.5	37	c.270C>A	CCDS33428.1	.	.	.	.	.	.	.	.	.	.	.	3.589	-0.084085	0.07097	.	.	ENSG00000188389	ENST00000343705	.	.	.	3.41	1.45	0.22620	.	.	.	.	.	T	0.33118	0.0852	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.24119	-1.0169	4	.	.	.	-3.3333	8.0441	0.30538	0.0:0.0:0.511:0.489	.	.	.	.	T	34	.	.	P	-	1	0	PDCD1	242443612	0.001000	0.12720	0.000000	0.03702	0.461000	0.32589	0.233000	0.17911	0.374000	0.24650	-0.322000	0.08575	CCA		0.647	PDCD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322313.1	NM_005018		5	44	1	0	0.00116845	1	0.00127467	5	44					T	242794939	G	T	242794939	2	4	55	1	0	0	0	0	0	0	0	1	11615	1190	42	5		5	PDCD1	2	242794939	Silent	SNP	G	TCGA-EJ-5506-01A-01D-1576-08		242794939	404434	3	2857											
CCDC71	64925	broad.mit.edu	37	chr3	49201589	49201589	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcttccctgccgtggagatgCgcgaccaggagtgcacagct	7	8	13	13	3	1	1	0	0	1	1	2	4	2	2	3	2	4	2	3	2	0	1			TCGA-EJ-5506-01A-01D-1576-08	TCGA-EJ-5506-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f5e6063-d19e-4f56-b3f9-5c2260d3bfc9	30a0b8d5-11a9-4367-9979-d2c6906f30cc	g.chr3:49201589C>T	ENST00000321895.6	-	2	159	c.53G>A	c.(52-54)cGc>cAc	p.R18H		NM_022903.3	NP_075054.3	Q8IV32	CCD71_HUMAN	coiled-coil domain containing 71	18								p.R18H(1)		endometrium(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)	10				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00217)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		CGTGGAGATGCGCGACCAGGA	0.572																																						ENST00000321895.6																			1	Substitution - Missense(1)	p.R18H(1)	prostate(1)	endometrium(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)	10						c.(52-54)cGc>cAc		coiled-coil domain containing 71							60	56	58					3																	49201589		2203	4300	6503	SO:0001583	missense	64925							g.chr3:49201589C>T	AK022862	CCDS2790.1	3p21.31	2014-02-12			ENSG00000177352	ENSG00000177352			25760	protein-coding gene	gene with protein product						12477932	Standard	NM_022903		Approved	FLJ12800	uc003cwg.4	Q8IV32	OTTHUMG00000156815	ENST00000321895.6:c.53G>A	3.37:g.49201589C>T	ENSP00000319006:p.Arg18His						p.R18H	NM_022903.3	NP_075054.3	Q8IV32	CCD71_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00217)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	2	159	-			18					Q6IPE2|Q9H8H4|Q9H9F1	Missense_Mutation	SNP	ENST00000321895.6	37	c.53G>A	CCDS2790.1	.	.	.	.	.	.	.	.	.	.	C	18.00	3.526350	0.64860	.	.	ENSG00000177352	ENST00000321895	T	0.45276	0.9	5.83	4.96	0.65561	.	0.067431	0.53938	N	0.000052	T	0.41419	0.1158	M	0.68952	2.095	0.44123	D	0.996903	P	0.38420	0.63	B	0.31946	0.138	T	0.48091	-0.9065	10	0.87932	D	0	-25.342	14.841	0.70223	0.0:0.9314:0.0:0.0686	.	18	Q8IV32	CCD71_HUMAN	H	18	ENSP00000319006:R18H	ENSP00000319006:R18H	R	-	2	0	CCDC71	49176593	1.000000	0.71417	0.925000	0.36789	0.982000	0.71751	7.008000	0.76341	1.490000	0.48466	0.650000	0.86243	CGC		0.572	CCDC71-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345980.1	NM_022903		5	97	0	0	0	1	0	5	97					T	49201589	C	T	49201589	3	4	55	1	0	0	0	0	1	0	0	0	2844	768	27	1	1354	1	CCDC71	3	49201589	Missense_Mutation	SNP	C	TCGA-EJ-5506-01A-01D-1576-08		49201589	148820841	4	2858											
PCDHA10	56139	broad.mit.edu	37	chr5	140235694	140235694	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgctctcgcttcttctcctcGcagcctgggaggtggggagc	3	11	14	13	2	3	0	0	0	3	0	6	2	3	2	2	4	3	3	2	4	0	2			TCGA-EJ-5506-01A-01D-1576-08	TCGA-EJ-5506-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f5e6063-d19e-4f56-b3f9-5c2260d3bfc9	30a0b8d5-11a9-4367-9979-d2c6906f30cc	g.chr5:140235694G>A	ENST00000307360.5	+	1	61	c.61G>A	c.(61-63)Gca>Aca	p.A21T	PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA10_ENST00000506939.2_Missense_Mutation_p.A21T|PCDHA8_ENST00000531613.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000530339.1_Intron	NM_018901.2	NP_061724.1	Q9Y5I2	PCDAA_HUMAN	protocadherin alpha 10	21					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.A21T(2)		NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	79			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCTTCTCCTCGCAGCCTGGGA	0.597																																						ENST00000307360.5																			2	Substitution - Missense(2)	p.A21T(2)	prostate(2)	NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	79						c.(61-63)Gca>Aca									61	70	67					5																	140235694		2196	4273	6469	SO:0001583	missense	0							g.chr5:140235694G>A	AF152475	CCDS34255.1, CCDS54921.1, CCDS75325.1	5q31	2010-11-26			ENSG00000250120	ENSG00000250120		"Cadherins / Protocadherins : Clustered"	8664	other	complex locus constituent	"KIAA0345-like 4", "ortholog to mouse CNR8"	606316		CNRS8		10380929	Standard	NM_018901		Approved	CNR8, CRNR8, CNRN8, PCDH-ALPHA10		Q9Y5I2	OTTHUMG00000163372	ENST00000307360.5:c.61G>A	5.37:g.140235694G>A	ENSP00000304234:p.Ala21Thr					PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA10_ENST00000506939.2_Missense_Mutation_p.A21T|PCDHA1_ENST00000504120.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000530339.1_Intron	p.A21T	NM_018901.2|NM_031859.1	NP_061724.1|NP_114065.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	61	+								A1L493|O75280|Q9NRU2	Missense_Mutation	SNP	ENST00000307360.5	37	c.61G>A	CCDS54921.1	.	.	.	.	.	.	.	.	.	.	G	1.471	-0.559855	0.03967	.	.	ENSG00000250120	ENST00000506939;ENST00000307360	T;T	0.54866	0.55;0.67	4.31	-0.688	0.11317	.	.	.	.	.	T	0.43743	0.1261	L	0.28400	0.85	0.09310	N	1	B;B;D	0.61080	0.073;0.028;0.989	B;B;P	0.52514	0.047;0.02;0.701	T	0.38564	-0.9655	9	0.16420	T	0.52	.	7.3596	0.26739	0.4085:0.0:0.4844:0.1071	.	21;21;21	Q9Y5I2-3;Q9Y5I2;Q9Y5I2-2	.;PCDAA_HUMAN;.	T	21	ENSP00000421030:A21T;ENSP00000304234:A21T	ENSP00000304234:A21T	A	+	1	0	PCDHA10	140215878	0.000000	0.05858	0.000000	0.03702	0.030000	0.12068	-1.104000	0.03326	-0.276000	0.09206	-1.134000	0.01955	GCA		0.597	PCDHA10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372895.2	NM_018901		7	58	0	0	0	1	0	7	58					A	140235694	G	A	140235694	3	1	55	1	0	0	0	0	1	0	0	0	11520	1087	38	1	63	1	PCDHA10	5	140235694	Missense_Mutation	SNP	G	TCGA-EJ-5506-01A-01D-1576-08		140235694	40679566	5	2859											
PCDHGA2	56113	broad.mit.edu	37	chr5	140720213	140720213	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctggaccagaacgacaacGcgcccgagatcctgtaccct	10	6	10	15	4	0	2	0	0	0	2	1	5	1	3	4	1	4	2	4	1	3	1			TCGA-EJ-5506-01A-01D-1576-08	TCGA-EJ-5506-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f5e6063-d19e-4f56-b3f9-5c2260d3bfc9	30a0b8d5-11a9-4367-9979-d2c6906f30cc	g.chr5:140720213G>A	ENST00000394576.2	+	1	1675	c.1675G>A	c.(1675-1677)Gcg>Acg	p.A559T	PCDHGA1_ENST00000517417.1_Intron	NM_018915.2	NP_061738.1	Q9Y5H1	PCDG2_HUMAN	protocadherin gamma subfamily A, 2	559	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.A559T(2)		breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAACGACAACGCGCCCGAGAT	0.622																																						ENST00000394576.2																			2	Substitution - Missense(2)	p.A559T(2)	prostate(2)	breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77						c.(1675-1677)Gcg>Acg									153	154	153					5																	140720213		2203	4300	6503	SO:0001583	missense	0							g.chr5:140720213G>A	AF152508	CCDS47289.1	5q31	2011-03-28			ENSG00000081853	ENSG00000081853		"Cadherins / Protocadherins : Clustered"	8700	other	protocadherin		606289				10380929	Standard	NM_018915		Approved	PCDH-GAMMA-A2		Q9Y5H1	OTTHUMG00000163679	ENST00000394576.2:c.1675G>A	5.37:g.140720213G>A	ENSP00000378077:p.Ala559Thr					PCDHGA1_ENST00000517417.1_Intron	p.A559T	NM_018915.2	NP_061738.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1675	+								Q52LL6|Q9Y5D5	Missense_Mutation	SNP	ENST00000394576.2	37	c.1675G>A	CCDS47289.1	.	.	.	.	.	.	.	.	.	.	.	3.484	-0.105364	0.06967	.	.	ENSG00000081853	ENST00000394576	T	0.03181	4.02	5.02	-2.35	0.06684	Cadherin (4);Cadherin conserved site (1);Cadherin-like (1);	1.143520	0.06915	N	0.808345	T	0.04497	0.0123	L	0.53249	1.67	0.09310	N	1	B;B	0.18968	0.002;0.032	B;B	0.17722	0.019;0.012	T	0.43410	-0.9393	10	0.36615	T	0.2	.	5.824	0.18544	0.327:0.2199:0.4531:0.0	.	559;559	Q9Y5H1-2;Q9Y5H1	.;PCDG2_HUMAN	T	559	ENSP00000378077:A559T	ENSP00000378077:A559T	A	+	1	0	PCDHGA2	140700397	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.061000	0.03472	-0.807000	0.04393	-0.895000	0.02911	GCG		0.622	PCDHGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374738.1	NM_018915		14	278	0	0	0	1	0	14	278					A	140720213	G	A	140720213	3	1	55	1	0	0	0	0	1	0	0	0	11554	1087	38	1	1677	1	PCDHGA2	5	140720213	Missense_Mutation	SNP	G	TCGA-EJ-5506-01A-01D-1576-08	484519	140720213	40195047	6	2860											
HIVEP2	3097	broad.mit.edu	37	chr6	143089660	143089660	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgctgccaaataaaaaggacGcatcaggtttcatctgtaag	14	10	9	8	1	3	0	2	0	1	0	3	1	3	1	1	2	2	4	1	2	5	3	rs200645897		TCGA-EJ-5506-01A-01D-1576-08	TCGA-EJ-5506-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f5e6063-d19e-4f56-b3f9-5c2260d3bfc9	30a0b8d5-11a9-4367-9979-d2c6906f30cc	g.chr6:143089660G>A	ENST00000367604.1	-	5	5840	c.5201C>T	c.(5200-5202)gCg>gTg	p.A1734V	HIVEP2_ENST00000012134.2_Missense_Mutation_p.A1734V|HIVEP2_ENST00000367603.2_Missense_Mutation_p.A1734V			P31629	ZEP2_HUMAN	human immunodeficiency virus type I enhancer binding protein 2	1734					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.A1734V(1)		NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	100				OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)		TAAAAAGGACGCATCAGGTTT	0.398													G|||	1	0.000199681	0	0	5008	,	,		15016	0.001		0	False		,,,				2504	0				Esophageal Squamous(107;843 1510 13293 16805 42198)	ENST00000367603.2																			1	Substitution - Missense(1)	p.A1734V(1)	prostate(1)	NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	100						c.(5200-5202)gCg>gTg		human immunodeficiency virus type I enhancer binding protein 2							119	108	111					6																	143089660		1836	4081	5917	SO:0001583	missense	3097				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:143089660G>A	M60119	CCDS43510.1	6q23-q24	2013-01-08	2001-11-28		ENSG00000010818	ENSG00000010818		"Zinc fingers, C2H2-type"	4921	protein-coding gene	gene with protein product	"c-myc intron binding protein 1"	143054	"human immunodeficiency virus type I enhancer-binding protein 2"			1733857, 2022670	Standard	NM_006734		Approved	MBP-2, HIV-EP2, MIBP1, ZAS2, Schnurri-2, ZNF40B	uc003qjd.3	P31629	OTTHUMG00000015713	ENST00000367604.1:c.5201C>T	6.37:g.143089660G>A	ENSP00000356576:p.Ala1734Val					HIVEP2_ENST00000012134.2_Missense_Mutation_p.A1734V|HIVEP2_ENST00000367604.1_Missense_Mutation_p.A1734V	p.A1734V	NM_006734.3	NP_006725.3	P31629	ZEP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)	6	5943	-			1734					Q02646|Q5THT5|Q9NS05	Missense_Mutation	SNP	ENST00000367604.1	37	c.5201C>T	CCDS43510.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	13.83	2.353238	0.41700	.	.	ENSG00000010818	ENST00000367604;ENST00000367603;ENST00000012134	T;T;T	0.02216	4.39;4.39;4.39	5.51	3.69	0.42338	.	0.476073	0.25214	N	0.032288	T	0.01029	0.0034	L	0.51422	1.61	0.30444	N	0.775889	B	0.28605	0.217	B	0.19666	0.026	T	0.45396	-0.9264	10	0.42905	T	0.14	-3.5494	11.1988	0.48728	0.0692:0.1285:0.8023:0.0	.	1734	P31629	ZEP2_HUMAN	V	1734	ENSP00000356576:A1734V;ENSP00000356575:A1734V;ENSP00000012134:A1734V	ENSP00000012134:A1734V	A	-	2	0	HIVEP2	143131353	0.993000	0.37304	0.424000	0.26647	0.923000	0.55619	4.398000	0.59697	0.779000	0.33543	0.591000	0.81541	GCG		0.398	HIVEP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042495.1			11	216	0	0	0	1	0	11	216					A	143089660	G	A	143089660	3	1	55	1	0	0	0	0	1	0	0	0	7187	1087	38	1	2159	1	HIVEP2	6	143089660	Missense_Mutation	SNP	G	TCGA-EJ-5506-01A-01D-1576-08		143089660	28025407	7	2861											
ANKMY2	57037	broad.mit.edu	37	chr7	16676046	16676046	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagttgacacgaacattcttGctggataataatgttccagc	12	12	8	9	1	1	1	0	1	1	0	2	3	2	2	1	1	3	3	1	1	3	6			TCGA-EJ-5506-01A-01D-1576-08	TCGA-EJ-5506-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f5e6063-d19e-4f56-b3f9-5c2260d3bfc9	30a0b8d5-11a9-4367-9979-d2c6906f30cc	g.chr7:16676046G>C	ENST00000306999.2	-	2	345	c.102C>G	c.(100-102)agC>agG	p.S34R	ANKMY2_ENST00000421746.1_5'UTR	NM_020319.2	NP_064715.1	Q8IV38	ANKY2_HUMAN	ankyrin repeat and MYND domain containing 2	34						cilium (GO:0005929)	metal ion binding (GO:0046872)	p.S34R(1)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|urinary_tract(1)	23	Lung NSC(10;0.103)|all_lung(11;0.204)			UCEC - Uterine corpus endometrioid carcinoma (126;0.195)		GAACATTCTTGCTGGATAATA	0.289																																						ENST00000306999.2																			1	Substitution - Missense(1)	p.S34R(1)	prostate(1)	central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|urinary_tract(1)	23						c.(100-102)agC>agG		ankyrin repeat and MYND domain containing 2							31	30	31					7																	16676046		2203	4298	6501	SO:0001583	missense	57037					cilium	zinc ion binding	g.chr7:16676046G>C	AK001740	CCDS5361.1	7p21	2013-01-10			ENSG00000106524	ENSG00000106524		"Zinc fingers, MYND-type", "Ankyrin repeat domain containing"	25370	protein-coding gene	gene with protein product						12477932	Standard	NM_020319		Approved	DKFZP564O043, ZMYND20	uc003sti.3	Q8IV38	OTTHUMG00000090806	ENST00000306999.2:c.102C>G	7.37:g.16676046G>C	ENSP00000303570:p.Ser34Arg						p.S34R	NM_020319.2	NP_064715.1	Q8IV38	ANKY2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)	2	345	-	Lung NSC(10;0.103)|all_lung(11;0.204)		34					A4D124|Q659G1|Q96BL3	Missense_Mutation	SNP	ENST00000306999.2	37	c.102C>G	CCDS5361.1	.	.	.	.	.	.	.	.	.	.	G	14.77	2.635621	0.47049	.	.	ENSG00000106524	ENST00000306999	T	0.36157	1.27	5.4	4.48	0.54585	Ankyrin repeat-containing domain (4);	0.119080	0.85682	D	0.000000	T	0.25306	0.0615	N	0.16478	0.41	0.49798	D	0.999829	P	0.43885	0.82	B	0.42087	0.375	T	0.05869	-1.0859	10	0.62326	D	0.03	-0.1336	10.6641	0.45719	0.1015:0.0:0.8984:0.0	.	34	Q8IV38	ANKY2_HUMAN	R	34	ENSP00000303570:S34R	ENSP00000303570:S34R	S	-	3	2	ANKMY2	16642571	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.609000	0.54117	1.277000	0.44412	0.650000	0.86243	AGC		0.289	ANKMY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207600.2	NM_020319		3	65	0	0	0	1	0	3	65					C	16676046	G	C	16676046	3	2	55	1	0	0	0	0	1	0	0	0	635	1310	46	5	1259	5	ANKMY2	7	16676046	Missense_Mutation	SNP	G	TCGA-EJ-5506-01A-01D-1576-08		16676046	142462617	8	2862											
MFHAS1	9258	broad.mit.edu	37	chr8	8749969	8749969	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tccagggccaccagctgcagCagctgccgggggaaggcagt	8	4	16	13	1	0	0	0	0	0	0	1	1	1	1	4	4	5	5	4	4	1	0			TCGA-EJ-5506-01A-01D-1576-08	TCGA-EJ-5506-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f5e6063-d19e-4f56-b3f9-5c2260d3bfc9	30a0b8d5-11a9-4367-9979-d2c6906f30cc	g.chr8:8749969C>A	ENST00000276282.6	-	1	1186	c.600G>T	c.(598-600)ctG>ctT	p.L200L		NM_004225.2	NP_004216.2	Q9Y4C4	MFHA1_HUMAN	malignant fibrous histiocytoma amplified sequence 1	200								p.L200L(1)		endometrium(1)|kidney(3)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|stomach(1)	21		Hepatocellular(245;0.217)		COAD - Colon adenocarcinoma(149;0.124)		CCAGCTGCAGCAGCTGCCGGG	0.672																																					Melanoma(103;1201 2045 17515 28966)	ENST00000276282.6																			1	Substitution - coding silent(1)	p.L200L(1)	prostate(1)	endometrium(1)|kidney(3)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|stomach(1)	21						c.(598-600)ctG>ctT		malignant fibrous histiocytoma amplified sequence 1							18	21	20					8																	8749969		2194	4299	6493	SO:0001819	synonymous_variant	9258							g.chr8:8749969C>A	AB016816	CCDS34844.1	8p23.1	2014-03-07			ENSG00000147324	ENSG00000147324			16982	protein-coding gene	gene with protein product	"leucine rich repeat containing 65", "malignant fibrous histiocytoma-amplified sequences with leucine-rich tandem repeats 1"	605352				9973190	Standard	NM_004225		Approved	MASL1, LRRC65	uc003wsj.1	Q9Y4C4	OTTHUMG00000163676	ENST00000276282.6:c.600G>T	8.37:g.8749969C>A							p.L200L	NM_004225.2	NP_004216.2	Q9Y4C4	MFHA1_HUMAN		COAD - Colon adenocarcinoma(149;0.124)	1	1186	-		Hepatocellular(245;0.217)	200					Q96CI0	Silent	SNP	ENST00000276282.6	37	c.600G>T	CCDS34844.1																																																																																				0.672	MFHAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374724.2	NM_004225		3	22	1	0	1	1	1	3	22					A	8749969	C	A	8749969	2	1	55	1	0	0	0	0	0	0	0	1	9521	697	25	5		5	MFHAS1	8	8749969	Silent	SNP	C	TCGA-EJ-5506-01A-01D-1576-08		8749969	137614053	9	2863											
C9orf131	138724	broad.mit.edu	37	chr9	35042438	35042438	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggtggcagcttgggaggttgCgacagcttcatccctggtgc	5	10	16	10	1	1	0	1	0	0	0	2	2	2	1	1	5	4	4	1	5	0	3	rs144687989		TCGA-EJ-5506-01A-01D-1576-08	TCGA-EJ-5506-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f5e6063-d19e-4f56-b3f9-5c2260d3bfc9	30a0b8d5-11a9-4367-9979-d2c6906f30cc	g.chr9:35042438C>T	ENST00000312292.5	+	1	234	c.187C>T	c.(187-189)Cga>Tga	p.R63*	C9orf131_ENST00000354479.5_Intron|FLJ00273_ENST00000595331.1_Silent_p.S129S|C9orf131_ENST00000421362.2_Nonsense_Mutation_p.R15*	NM_001040410.1|NM_203299.2	NP_001035500.1|NP_976044.2	Q5VYM1	CI131_HUMAN	chromosome 9 open reading frame 131	63								p.R63*(1)		cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(23)|prostate(2)|skin(2)|stomach(1)	39	all_epithelial(49;0.22)		LUSC - Lung squamous cell carcinoma(32;0.00117)|Lung(28;0.00309)			TGGGAGGTTGCGACAGCTTCA	0.532																																						ENST00000312292.5																			1	Substitution - Nonsense(1)	p.R63*(1)	prostate(1)	cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(23)|prostate(2)|skin(2)|stomach(1)	39						c.(187-189)Cga>Tga		chromosome 9 open reading frame 131							166	128	141					9																	35042438		2203	4300	6503	SO:0001587	stop_gained	138724							g.chr9:35042438C>T	BC045643	CCDS6572.2, CCDS47961.1, CCDS47962.1	9p13.3	2008-02-05			ENSG00000174038	ENSG00000174038			31418	protein-coding gene	gene with protein product							Standard	NM_001287391		Approved	MGC41945	uc003zvw.3	Q5VYM1	OTTHUMG00000019853	ENST00000312292.5:c.187C>T	9.37:g.35042438C>T	ENSP00000308279:p.Arg63*					C9orf131_ENST00000421362.2_Nonsense_Mutation_p.R15*|C9orf131_ENST00000354479.5_Intron|FLJ00273_ENST00000595331.1_Silent_p.S129S	p.R63*	NM_001040410.1|NM_203299.2	NP_001035500.1|NP_976044.2	Q5VYM1	CI131_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00117)|Lung(28;0.00309)		1	234	+	all_epithelial(49;0.22)		63					A6NLE6|E9PB26|Q86XC6|Q9UF74	Nonsense_Mutation	SNP	ENST00000312292.5	37	c.187C>T	CCDS6572.2	.	.	.	.	.	.	.	.	.	.	C	11.77	1.738916	0.30774	.	.	ENSG00000174038	ENST00000421362;ENST00000312292	.	.	.	4.78	3.87	0.44632	.	1.118960	0.07003	N	0.823622	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.10636	T	0.68	2.1193	10.5202	0.44914	0.1932:0.8068:0.0:0.0	.	.	.	.	X	15;63	.	ENSP00000308279:R63X	R	+	1	2	C9orf131	35032438	0.988000	0.35896	0.185000	0.23176	0.008000	0.06430	1.776000	0.38594	1.351000	0.45789	0.655000	0.94253	CGA		0.532	C9orf131-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052283.5	NM_203299		3	92	0	0	0	1	0	3	92					T	35042438	C	T	35042438	4	4	55	1	0	0	0	0	0	1	0	0	2457	760	27	1	205	1	C9orf131	9	35042438	Nonsense_Mutation	SNP	C	TCGA-EJ-5506-01A-01D-1576-08		35042438	106170993	10	2864											
DHTKD1	55526	broad.mit.edu	37	chr10	12143062	12143062	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ttttaatgttcgtctaagtgGccaagatgttggtcgtggaa	9	15	12	5	2	1	1	0	0	1	1	3	2	1	2	1	3	0	2	1	3	4	5			TCGA-EJ-5506-01A-01D-1576-08	TCGA-EJ-5506-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f5e6063-d19e-4f56-b3f9-5c2260d3bfc9	30a0b8d5-11a9-4367-9979-d2c6906f30cc	g.chr10:12143062G>A	ENST00000263035.4	+	10	1840	c.1778G>A	c.(1777-1779)gGc>gAc	p.G593D		NM_018706.5	NP_061176	Q96HY7	DHTK1_HUMAN	dehydrogenase E1 and transketolase domain containing 1	593					cell death (GO:0008219)|generation of precursor metabolites and energy (GO:0006091)|glycolytic process (GO:0006096)|hematopoietic progenitor cell differentiation (GO:0002244)|tricarboxylic acid cycle (GO:0006099)	mitochondrion (GO:0005739)	oxoglutarate dehydrogenase (succinyl-transferring) activity (GO:0004591)|thiamine pyrophosphate binding (GO:0030976)	p.G593D(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(1)	44		Renal(717;0.228)	BRCA - Breast invasive adenocarcinoma(52;0.188)			CGTCTAAGTGGCCAAGATGTT	0.408																																						ENST00000263035.4																			1	Substitution - Missense(1)	p.G593D(1)	prostate(1)	breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(1)	44						c.(1777-1779)gGc>gAc		dehydrogenase E1 and transketolase domain containing 1							188	172	177					10																	12143062		2203	4300	6503	SO:0001583	missense	55526				glycolysis	mitochondrion	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding	g.chr10:12143062G>A	BC002477	CCDS7087.1	10p14	2003-11-24			ENSG00000181192	ENSG00000181192			23537	protein-coding gene	gene with protein product		614984				10997877	Standard	NM_018706		Approved	KIAA1630, MGC3090, DKFZP762M115	uc001ild.5	Q96HY7	OTTHUMG00000017677	ENST00000263035.4:c.1778G>A	10.37:g.12143062G>A	ENSP00000263035:p.Gly593Asp						p.G593D	NM_018706.5	NP_061176.3	Q96HY7	DHTK1_HUMAN	BRCA - Breast invasive adenocarcinoma(52;0.188)		10	1840	+		Renal(717;0.228)	593					Q68CU5|Q9BUM8|Q9HCE2	Missense_Mutation	SNP	ENST00000263035.4	37	c.1778G>A	CCDS7087.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	33|33	5.198923|5.198923	0.94997|0.94997	.|.	.|.	ENSG00000181192|ENSG00000181192	ENST00000263035|ENST00000448829	D|.	0.93488|.	-3.23|.	5.48|5.48	5.48|5.48	0.80851|0.80851	Transketolase-like, pyrimidine-binding domain (2);|.	0.089941|.	0.85682|.	D|.	0.000000|.	D|.	0.88284|.	0.6395|.	H|H	0.96748|0.96748	3.875|3.875	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.97110|.	1.0|.	D|.	0.91992|.	0.5604|.	10|.	0.87932|.	D|.	0|.	-8.3663|-8.3663	17.5351|17.5351	0.87827|0.87827	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	593|.	Q96HY7|.	DHTK1_HUMAN|.	D|X	593|144	ENSP00000263035:G593D|.	ENSP00000263035:G593D|.	G|W	+|+	2|3	0|0	DHTKD1|DHTKD1	12183068|12183068	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	8.936000|8.936000	0.92931|0.92931	2.581000|2.581000	0.87130|0.87130	0.655000|0.655000	0.94253|0.94253	GGC|TGG		0.408	DHTKD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046777.1	NM_018706		16	349	0	0	0	1	0	16	349					A	12143062	G	A	12143062	3	1	55	1	0	0	0	0	1	0	0	0	4500	1203	42	3	1816	3	DHTKD1	10	12143062	Missense_Mutation	SNP	G	TCGA-EJ-5506-01A-01D-1576-08		12143062	123391685	11	2865											
TTC17	55761	broad.mit.edu	37	chr11	43513626	43513626	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatgccaagctctggaatgaCgccgtcatagtagccaccat	12	8	9	12	2	2	1	1	1	1	0	2	2	2	2	4	1	3	2	4	1	5	2	rs200611245		TCGA-EJ-5506-01A-01D-1576-08	TCGA-EJ-5506-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f5e6063-d19e-4f56-b3f9-5c2260d3bfc9	30a0b8d5-11a9-4367-9979-d2c6906f30cc	g.chr11:43513626C>T	ENST00000039989.4	+	23	3221	c.3207C>T	c.(3205-3207)gaC>gaT	p.D1069D		NM_018259.5	NP_060729.2	Q96AE7	TTC17_HUMAN	tetratricopeptide repeat domain 17	1069					actin filament polymerization (GO:0030041)|cilium organization (GO:0044782)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)		p.D1069D(1)		breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(27)|ovary(5)|prostate(3)|skin(3)	53						TCTGGAATGACGCCGTCATAG	0.517																																						ENST00000039989.4																			1	Substitution - coding silent(1)	p.D1069D(1)	prostate(1)	breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(27)|ovary(5)|prostate(3)|skin(3)	53						c.(3205-3207)gaC>gaT		tetratricopeptide repeat domain 17		C		0,4406		0,0,2203	258	217	231		3207	-4.1	1	11		231	4,8596	3.7+/-12.6	0,4,4296	no	coding-synonymous	TTC17	NM_018259.5		0,4,6499	TT,TC,CC		0.0465,0.0,0.0308		1069/1142	43513626	4,13002	2203	4300	6503	SO:0001819	synonymous_variant	55761						binding	g.chr11:43513626C>T	AK001540	CCDS31466.1	11p11.2	2013-01-10			ENSG00000052841	ENSG00000052841		"Tetratricopeptide (TTC) repeat domain containing"	25596	protein-coding gene	gene with protein product						12477932	Standard	NM_018259		Approved	FLJ10890	uc001mxi.3	Q96AE7	OTTHUMG00000166398	ENST00000039989.4:c.3207C>T	11.37:g.43513626C>T							p.D1069D	NM_018259.5	NP_060729.2	Q96AE7	TTC17_HUMAN			23	3221	+			1069					G3XAB3|Q8NEC0	Silent	SNP	ENST00000039989.4	37	c.3207C>T	CCDS31466.1	.	.	.	.	.	.	.	.	.	.	C	9.039	0.989158	0.18966	0.0	4.65E-4	ENSG00000052841	ENST00000418561	.	.	.	5.61	-4.14	0.03892	.	.	.	.	.	T	0.62804	0.2458	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.62723	-0.6794	4	.	.	.	-18.3048	13.7921	0.63148	0.0:0.2105:0.0:0.7895	.	.	.	.	M	100	.	.	T	+	2	0	TTC17	43470202	0.326000	0.24669	0.966000	0.40874	0.890000	0.51754	-0.326000	0.07965	-0.705000	0.05035	-0.742000	0.03525	ACG		0.517	TTC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389577.2	NM_018259		14	393	0	0	0	1	0	14	393					T	43513626	C	T	43513626	2	4	55	1	0	0	0	0	0	0	0	1	16681	535	19	1		1	TTC17	11	43513626	Silent	SNP	C	TCGA-EJ-5506-01A-01D-1576-08		43513626	91492890	12	2866											
HCFC2	29915	broad.mit.edu	37	chr12	104487295	104487295	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccatctttggcatcaaatgcTtctaatcataatagtcatgt	12	15	5	9	0	5	0	3	0	2	0	5	0	5	0	1	1	1	2	1	1	4	5	rs138874026		TCGA-EJ-5506-01A-01D-1576-08	TCGA-EJ-5506-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f5e6063-d19e-4f56-b3f9-5c2260d3bfc9	30a0b8d5-11a9-4367-9979-d2c6906f30cc	g.chr12:104487295T>G	ENST00000229330.4	+	10	1520	c.1416T>G	c.(1414-1416)gcT>gcG	p.A472A	HCFC2_ENST00000550335.1_3'UTR	NM_013320.2	NP_037452.1	Q9Y5Z7	HCFC2_HUMAN	host cell factor C2	472					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	transcription coactivator activity (GO:0003713)	p.A472A(1)		breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|lung(14)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	35						CATCAAATGCTTCTAATCATA	0.333																																					Esophageal Squamous(184;1814 2036 4771 6974 15702)	ENST00000229330.4																			1	Substitution - coding silent(1)	p.A472A(1)	prostate(1)	breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|lung(14)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	35						c.(1414-1416)gcT>gcG		host cell factor C2							80	78	79					12																	104487295		2203	4299	6502	SO:0001819	synonymous_variant	29915				regulation of transcription from RNA polymerase II promoter|viral reproduction	cytoplasm|nucleus	transcription coactivator activity	g.chr12:104487295T>G	AF117210	CCDS9097.1	12q23.3	2011-03-30			ENSG00000111727	ENSG00000111727			24972	protein-coding gene	gene with protein product		607926				10196288	Standard	NM_013320		Approved	HCF-2	uc001tkj.4	Q9Y5Z7	OTTHUMG00000170175	ENST00000229330.4:c.1416T>G	12.37:g.104487295T>G						HCFC2_ENST00000550335.1_3'UTR	p.A472A	NM_013320.2	NP_037452.1	Q9Y5Z7	HCFC2_HUMAN			10	1520	+			472					B2R8Q5|C0H5X3	Silent	SNP	ENST00000229330.4	37	c.1416T>G	CCDS9097.1																																																																																				0.333	HCFC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407780.1	NM_013320		8	197	0	0	0	1	0	8	197					G	104487295	T	G	104487295	2	3	55	1	0	0	0	0	0	0	0	1	6993	1596	56	5		5	HCFC2	12	104487295	Silent	SNP	T	TCGA-EJ-5506-01A-01D-1576-08		104487295	29364600	13	2867											
ITGAM	3684	broad.mit.edu	37	chr16	31332891	31332891	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tggtgaaaggcaaggaagccGgagaggtcagagtctgcctc	11	6	16	8	1	2	3	1	1	1	2	3	5	2	4	2	5	2	1	2	5	3	0			TCGA-EJ-5506-01A-01D-1576-08	TCGA-EJ-5506-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f5e6063-d19e-4f56-b3f9-5c2260d3bfc9	30a0b8d5-11a9-4367-9979-d2c6906f30cc	g.chr16:31332891G>A	ENST00000287497.8	+	16	2020	c.1945G>A	c.(1945-1947)Gga>Aga	p.G649R	ITGAM_ENST00000544665.3_Missense_Mutation_p.G650R			P11215	ITAM_HUMAN	integrin, alpha M (complement component 3 receptor 3 subunit)	649					activated T cell proliferation (GO:0050798)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cellular extravasation (GO:0045123)|ectodermal cell differentiation (GO:0010668)|extracellular matrix organization (GO:0030198)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte migration involved in inflammatory response (GO:0002523)|microglia development (GO:0014005)|neutrophil chemotaxis (GO:0030593)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integrin complex (GO:0008305)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	glycoprotein binding (GO:0001948)|heparin binding (GO:0008201)|metal ion binding (GO:0046872)	p.G649R(2)		endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(1)|prostate(4)|skin(1)	56						CAAGGAAGCCGGAGAGGTCAG	0.517																																						ENST00000544665.3																			2	Substitution - Missense(2)	p.G649R(2)	prostate(1)|endometrium(1)	endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(1)|prostate(4)|skin(1)	56						c.(1948-1950)Gga>Aga		integrin, alpha M (complement component 3 receptor 3 subunit)							178	185	183					16																	31332891		2166	4279	6445	SO:0001583	missense	3684				blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration	integrin complex	glycoprotein binding|receptor activity	g.chr16:31332891G>A	J03925	CCDS45470.1, CCDS54004.1	16p11.2	2010-03-23	2006-02-10			ENSG00000169896		"CD molecules", "Complement system", "Integrins"	6149	protein-coding gene	gene with protein product		120980	"integrin, alpha M (complement component receptor 3, alpha; also known as CD11b (p170), macrophage antigen alpha polypeptide)"	CR3A, CD11B			Standard	NM_001145808		Approved	MAC-1, CD11b	uc002ebr.3	P11215		ENST00000287497.8:c.1945G>A	16.37:g.31332891G>A	ENSP00000287497:p.Gly649Arg					ITGAM_ENST00000287497.8_Missense_Mutation_p.G649R	p.G650R	NM_000632.3|NM_001145808.1	NP_000623.2|NP_001139280.1	P11215	ITAM_HUMAN			16	2019	+			649					Q4VAK0|Q4VAK1|Q4VAK2	Missense_Mutation	SNP	ENST00000287497.8	37	c.1948G>A	CCDS45470.1	.	.	.	.	.	.	.	.	.	.	G	15.83	2.948225	0.53186	.	.	ENSG00000169896	ENST00000544665;ENST00000287497	T;T	0.45668	0.89;0.89	4.83	4.83	0.62350	Integrin alpha-2 (1);	.	.	.	.	T	0.66982	0.2845	M	0.84846	2.72	0.34673	D	0.723857	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.997;0.993;0.993	T	0.78183	-0.2303	9	0.59425	D	0.04	.	13.2895	0.60262	0.0:0.0:1.0:0.0	.	55;649;649	B3KXM6;Q4VAK1;P11215	.;.;ITAM_HUMAN	R	650;649	ENSP00000441691:G650R;ENSP00000287497:G649R	ENSP00000287497:G649R	G	+	1	0	ITGAM	31240392	0.997000	0.39634	0.957000	0.39632	0.137000	0.21094	2.894000	0.48640	2.480000	0.83734	0.655000	0.94253	GGA		0.517	ITGAM-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000432816.1	NM_000632		16	304	0	0	0	1	0	16	304					A	31332891	G	A	31332891	3	1	55	1	0	0	0	0	1	0	0	0	7887	1117	39	2	2010	2	ITGAM	16	31332891	Missense_Mutation	SNP	G	TCGA-EJ-5506-01A-01D-1576-08		31332891	59021862	14	2868											
DHX38	9785	broad.mit.edu	37	chr16	72130068	72130068	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gatcctgtgatgggggacacCagtgaggatgcctcgatcca	9	8	14	10	1	0	2	0	2	0	0	3	6	2	4	4	3	1	0	4	3	0	0			TCGA-EJ-5506-01A-01D-1576-08	TCGA-EJ-5506-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f5e6063-d19e-4f56-b3f9-5c2260d3bfc9	30a0b8d5-11a9-4367-9979-d2c6906f30cc	g.chr16:72130068C>T	ENST00000268482.3	+	2	521	c.12C>T	c.(10-12)acC>acT	p.T4T	TXNL4B_ENST00000268483.3_5'Flank|DHX38_ENST00000536867.1_Silent_p.T4T|TXNL4B_ENST00000423037.1_5'Flank|TXNL4B_ENST00000426362.2_5'Flank	NM_014003.3	NP_054722.2	Q92620	PRP16_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 38	4					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)	p.T4T(1)		endometrium(5)|kidney(1)|large_intestine(16)|lung(15)|pancreas(1)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	48		Ovarian(137;0.125)				TGGGGGACACCAGTGAGGATG	0.498																																					Melanoma(97;711 1442 7855 13832 28836)	ENST00000268482.3																			1	Substitution - coding silent(1)	p.T4T(1)	prostate(1)	endometrium(5)|kidney(1)|large_intestine(16)|lung(15)|pancreas(1)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	48						c.(10-12)acC>acT		DEAH (Asp-Glu-Ala-His) box polypeptide 38							73	58	63					16																	72130068		2198	4300	6498	SO:0001819	synonymous_variant	9785				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|nucleoplasm	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding	g.chr16:72130068C>T	AF038391	CCDS10907.1	16q22	2008-02-05	2003-06-13	2003-06-20	ENSG00000140829	ENSG00000140829		"DEAH-boxes"	17211	protein-coding gene	gene with protein product		605584	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 38"	DDX38		9524131, 9039502	Standard	NM_014003		Approved	PRP16, KIAA0224, hPrp16, PRPF16	uc002fcb.3	Q92620	OTTHUMG00000137596	ENST00000268482.3:c.12C>T	16.37:g.72130068C>T						DHX38_ENST00000536867.1_Silent_p.T4T	p.T4T	NM_014003.3	NP_054722.2	Q92620	PRP16_HUMAN			2	521	+		Ovarian(137;0.125)	4					B4DVG8|D3DWS7|O75212|Q96HN7	Silent	SNP	ENST00000268482.3	37	c.12C>T	CCDS10907.1																																																																																				0.498	DHX38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269004.3	NM_014003		5	149	0	0	0	1	0	5	149					T	72130068	C	T	72130068	2	4	55	1	0	0	0	0	0	0	0	1	4511	581	21	3		3	DHX38	16	72130068	Silent	SNP	C	TCGA-EJ-5506-01A-01D-1576-08	40797177	72130068	18224685	15	2869											
SGSM2	9905	broad.mit.edu	37	chr17	2267466	2267466	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gggactctgggggactccgaGctggaaaagaggtgggggct	8	6	20	7	1	1	1	0	0	1	1	2	5	2	4	1	7	1	2	1	7	2	0			TCGA-EJ-5506-01A-01D-1576-08	TCGA-EJ-5506-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f5e6063-d19e-4f56-b3f9-5c2260d3bfc9	30a0b8d5-11a9-4367-9979-d2c6906f30cc	g.chr17:2267466G>T	ENST00000426855.2	+	8	1096	c.921G>T	c.(919-921)gaG>gaT	p.E307D	SGSM2_ENST00000574563.1_Missense_Mutation_p.E307D|SGSM2_ENST00000268989.3_Missense_Mutation_p.E307D	NM_001098509.1	NP_001091979.1	O43147	SGSM2_HUMAN	small G protein signaling modulator 2	307					late endosome to Golgi transport (GO:0034499)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of Rab GTPase activity (GO:0032851)		Rab GTPase activator activity (GO:0005097)|Rab GTPase binding (GO:0017137)	p.E307D(1)		biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				Colorectal(2;5.15e-05)|READ - Rectum adenocarcinoma(2;0.000115)		GGGACTCCGAGCTGGAAAAGA	0.617																																						ENST00000268989.3																			1	Substitution - Missense(1)	p.E307D(1)	prostate(1)	biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						c.(919-921)gaG>gaT		small G protein signaling modulator 2							35	38	37					17																	2267466		2203	4300	6503	SO:0001583	missense	9905					intracellular	Rab GTPase activator activity	g.chr17:2267466G>T	BC039204	CCDS32526.1, CCDS45570.1	17p13.3	2013-07-10	2007-08-14	2007-08-14		ENSG00000141258		"Small G protein signaling modulators"	29026	protein-coding gene	gene with protein product		611418	"RUN and TBC1 domain containing 1"	RUTBC1		9455477, 17509819, 21808068	Standard	NM_014853		Approved	KIAA0397	uc002fum.4	O43147		ENST00000426855.2:c.921G>T	17.37:g.2267466G>T	ENSP00000415107:p.Glu307Asp					SGSM2_ENST00000426855.2_Missense_Mutation_p.E307D|SGSM2_ENST00000574563.1_Missense_Mutation_p.E307D	p.E307D	NM_014853.2	NP_055668.2	O43147	SGSM2_HUMAN		Colorectal(2;5.15e-05)|READ - Rectum adenocarcinoma(2;0.000115)	8	1098	+			307					A5LGW2|B4DH69|Q49AC2|Q6ZUY2|Q8IXU4	Missense_Mutation	SNP	ENST00000426855.2	37	c.921G>T	CCDS45570.1	.	.	.	.	.	.	.	.	.	.	G	8.897	0.955347	0.18507	.	.	ENSG00000141258	ENST00000268989;ENST00000426855	T;T	0.28666	1.6;1.6	5.6	5.6	0.85130	.	0.046010	0.85682	D	0.000000	T	0.14743	0.0356	N	0.08118	0	0.50171	D	0.999852	B;B;P	0.35155	0.005;0.371;0.487	B;B;B	0.35470	0.004;0.16;0.203	T	0.09164	-1.0687	10	0.02654	T	1	-1.4855	13.8735	0.63634	0.0752:0.0:0.9248:0.0	.	307;307;307	O43147-5;O43147;O43147-2	.;SGSM2_HUMAN;.	D	307	ENSP00000268989:E307D;ENSP00000415107:E307D	ENSP00000268989:E307D	E	+	3	2	SGSM2	2214216	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.027000	0.41078	2.653000	0.90120	0.563000	0.77884	GAG		0.617	SGSM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438186.1	NM_014853		3	83	1	0	1	1	1	3	83					T	2267466	G	T	2267466	3	4	55	1	0	0	0	0	1	0	0	0	14223	962	34	5	951	5	SGSM2	17	2267466	Missense_Mutation	SNP	G	TCGA-EJ-5506-01A-01D-1576-08		2267466	78927744	16	2870											
STAT3	6774	broad.mit.edu	37	chr17	40476777	40476777	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgctcgatgctcagtcctcGcttggtggtggaggagaact	6	11	14	10	2	1	1	1	0	0	1	4	4	2	2	1	4	3	3	1	4	1	1			TCGA-EJ-5506-01A-01D-1576-08	TCGA-EJ-5506-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f5e6063-d19e-4f56-b3f9-5c2260d3bfc9	30a0b8d5-11a9-4367-9979-d2c6906f30cc	g.chr17:40476777G>A	ENST00000264657.5	-	17	1864	c.1552C>T	c.(1552-1554)Cga>Tga	p.R518*	STAT3_ENST00000585517.1_Nonsense_Mutation_p.R518*|STAT3_ENST00000389272.3_Nonsense_Mutation_p.R420*|STAT3_ENST00000588969.1_Nonsense_Mutation_p.R518*|STAT3_ENST00000404395.3_Nonsense_Mutation_p.R518*	NM_003150.3|NM_139276.2	NP_003141.2|NP_644805.1	P40763	STAT3_HUMAN	signal transducer and activator of transcription 3 (acute-phase response factor)	518					acute-phase response (GO:0006953)|astrocyte differentiation (GO:0048708)|cell proliferation (GO:0008283)|cellular component movement (GO:0006928)|cellular response to hormone stimulus (GO:0032870)|cytokine-mediated signaling pathway (GO:0019221)|eating behavior (GO:0042755)|eye photoreceptor cell differentiation (GO:0001754)|glucose homeostasis (GO:0042593)|growth hormone receptor signaling pathway (GO:0060396)|interleukin-6-mediated signaling pathway (GO:0070102)|intracellular receptor signaling pathway (GO:0030522)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|negative regulation of cell death (GO:0060548)|negative regulation of cell proliferation (GO:0008285)|negative regulation of glycolytic process (GO:0045820)|negative regulation of neuron migration (GO:2001223)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphorylation (GO:0016310)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein import into nucleus (GO:0006606)|radial glial cell differentiation (GO:0060019)|regulation of multicellular organism growth (GO:0040014)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|sexual reproduction (GO:0019953)|signal transduction (GO:0007165)|stem cell maintenance (GO:0019827)|temperature homeostasis (GO:0001659)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein dimerization activity (GO:0046983)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|RNA polymerase II repressing transcription factor binding (GO:0001103)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)	p.R518*(1)		breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		all_cancers(22;1.39e-06)|all_epithelial(22;2.95e-05)|Breast(137;0.000135)		BRCA - Breast invasive adenocarcinoma(366;0.139)		CTCAGTCCTCGCTTGGTGGTG	0.547									Hyperimmunoglobulin E Recurrent Infection Syndrome																													ENST00000264657.5																			1	Substitution - Nonsense(1)	p.R518*(1)	prostate(1)	breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						c.(1552-1554)Cga>Tga		signal transducer and activator of transcription 3 (acute-phase response factor)							78	74	75					17																	40476777		2203	4300	6503	SO:0001587	stop_gained	6774	Hyperimmunoglobulin E Recurrent Infection Syndrome	Familial Cancer Database	HIES, Hyper IgE syndrome, autosomal dominant (Job syndrome) / recessive	cellular component movement|eating behavior|eye photoreceptor cell differentiation|glucose homeostasis|interleukin-6-mediated signaling pathway|interspecies interaction between organisms|JAK-STAT cascade involved in growth hormone signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|protein import into nucleus|response to estradiol stimulus|sexual reproduction|temperature homeostasis	cytosol|nucleus|plasma membrane	calcium ion binding|ligand-regulated transcription factor activity|protein dimerization activity|protein kinase binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription factor binding|transcription regulatory region DNA binding	g.chr17:40476777G>A	BC014482	CCDS32656.1, CCDS32657.1, CCDS59288.1	17q21	2014-09-17			ENSG00000168610	ENSG00000168610		"SH2 domain containing"	11364	protein-coding gene	gene with protein product		102582				7512451	Standard	NM_139276		Approved	APRF	uc002hzl.1	P40763	OTTHUMG00000150645	ENST00000264657.5:c.1552C>T	17.37:g.40476777G>A	ENSP00000264657:p.Arg518*					STAT3_ENST00000588969.1_Nonsense_Mutation_p.R518*|STAT3_ENST00000585517.1_Nonsense_Mutation_p.R518*|STAT3_ENST00000404395.3_Nonsense_Mutation_p.R518*|STAT3_ENST00000389272.3_Nonsense_Mutation_p.R420*	p.R518*	NM_003150.3|NM_139276.2	NP_003141.2|NP_644805.1	P40763	STAT3_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.139)	17	1864	-		all_cancers(22;1.39e-06)|all_epithelial(22;2.95e-05)|Breast(137;0.000135)	518					A8K7B8|K7ENL3|O14916|Q9BW54	Nonsense_Mutation	SNP	ENST00000264657.5	37	c.1552C>T	CCDS32656.1	.	.	.	.	.	.	.	.	.	.	G	38	7.138393	0.98088	.	.	ENSG00000168610	ENST00000264657;ENST00000389272;ENST00000404395	.	.	.	5.63	5.63	0.86233	.	0.053895	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-16.1309	19.679	0.95950	0.0:0.0:1.0:0.0	.	.	.	.	X	518;420;518	.	ENSP00000264657:R518X	R	-	1	2	STAT3	37730303	1.000000	0.71417	0.997000	0.53966	0.698000	0.40448	3.018000	0.49625	2.651000	0.90000	0.655000	0.94253	CGA		0.547	STAT3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319353.3	NM_139276, NM_003150		5	114	0	0	0	1	0	5	114					A	40476777	G	A	40476777	4	1	55	1	0	0	0	0	0	1	0	0	15265	1095	38	1	792	1	STAT3	17	40476777	Nonsense_Mutation	SNP	G	TCGA-EJ-5506-01A-01D-1576-08	38209311	40476777	40718433	17	2871											
DNAH17	8632	broad.mit.edu	37	chr17	76471408	76471408	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgagggtgatctgaaacacGtcaagcccgctgatgtacgc	10	9	12	10	3	2	4	1	4	1	0	2	4	2	4	1	1	3	2	1	1	3	2	rs200383975		TCGA-EJ-5506-01A-01D-1576-08	TCGA-EJ-5506-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f5e6063-d19e-4f56-b3f9-5c2260d3bfc9	30a0b8d5-11a9-4367-9979-d2c6906f30cc	g.chr17:76471408G>A	ENST00000585328.1	-	54	8572	c.8448C>T	c.(8446-8448)gaC>gaT	p.D2816D	DNAH17_ENST00000389840.5_Silent_p.D2807D|DNAH17_ENST00000586052.1_5'UTR	NM_173628.3	NP_775899.3	Q9UFH2	DYH17_HUMAN	dynein, axonemal, heavy chain 17	2807	AAA 4. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.D2816D(1)		NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			TCTGAAACACGTCAAGCCCGC	0.607													G|||	1	0.000199681	0	0	5008	,	,		19146	0		0.001	False		,,,				2504	0					ENST00000389840.5																			1	Substitution - coding silent(1)	p.D2816D(1)	prostate(1)	NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116						c.(8419-8421)gaC>gaT		dynein, axonemal, heavy chain 17		G		0,4180		0,0,2090	86	91	89		8463	-3.8	1	17		89	3,8441		0,3,4219	yes	coding-synonymous	DNAH17	NM_173628.3		0,3,6309	AA,AG,GG		0.0355,0.0,0.0238		2821/4463	76471408	3,12621	2090	4222	6312	SO:0001819	synonymous_variant	8632							g.chr17:76471408G>A	AJ000522		17q25.3	2012-04-19	2006-09-04		ENSG00000187775	ENSG00000187775		"Axonemal dyneins"	2946	protein-coding gene	gene with protein product		610063	"dynein, axonemal, heavy polypeptide 17", "dynein, axonemal, heavy chain like 1", "dynein, axonemal, heavy like 1"	DNAHL1		9545504	Standard	NM_173628		Approved	DNEL2, FLJ40457	uc010dhp.2	Q9UFH2		ENST00000585328.1:c.8448C>T	17.37:g.76471408G>A						DNAH17_ENST00000585328.1_Silent_p.D2816D|DNAH17_ENST00000586052.1_5'UTR	p.D2807D					BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)		54	8545	-								O00431|O15206|Q2M2Y1|Q6ZRQ2|Q8N7Q7	Silent	SNP	ENST00000585328.1	37	c.8421C>T																																																																																					0.607	DNAH17-001	PUTATIVE	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000318962.2	NM_173628		5	168	0	0	0	1	0	5	168					A	76471408	G	A	76471408	2	1	55	1	0	0	0	0	0	0	0	1	4601	1136	40	1		1	DNAH17	17	76471408	Silent	SNP	G	TCGA-EJ-5506-01A-01D-1576-08	35994631	76471408	4723802	18	2872											
ANKRD13C	81573	broad.mit.edu	37	chr1	70801756	70801756	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctaacctttatttcctaacaTcacagcaaggtgtaaaggag	14	11	7	9	0	1	0	1	0	0	0	2	1	2	1	2	2	3	2	2	2	6	6			TCGA-EJ-5507-01A-01D-1576-08	TCGA-EJ-5507-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5048e04-2519-42cc-8990-41612b2ad528	8285618d-a4b6-4641-b39e-18b2d8a40bcc	g.chr1:70801756T>C	ENST00000370944.4	-	2	770	c.457A>G	c.(457-459)Atg>Gtg	p.M153V	ANKRD13C_ENST00000262346.6_Missense_Mutation_p.M153V	NM_030816.4	NP_110443.3	Q8N6S4	AN13C_HUMAN	ankyrin repeat domain 13C	153					protein retention in ER lumen (GO:0006621)|regulation of anoikis (GO:2000209)|regulation of receptor biosynthetic process (GO:0010869)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	receptor binding (GO:0005102)	p.M153V(1)		endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(1)	19						TTTCCTAACATCACAGCAAGG	0.219																																						ENST00000370944.4																			1	Substitution - Missense(1)	p.M153V(1)	prostate(1)	endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(1)	19						c.(457-459)Atg>Gtg		ankyrin repeat domain 13C							4	4	4					1																	70801756		1669	3543	5212	SO:0001583	missense	81573				protein retention in ER lumen|regulation of anoikis|regulation of receptor biosynthetic process	endoplasmic reticulum membrane|perinuclear region of cytoplasm	receptor binding	g.chr1:70801756T>C		CCDS648.2	1p32.3-p31.3	2013-01-10			ENSG00000118454	ENSG00000118454		"Ankyrin repeat domain containing"	25374	protein-coding gene	gene with protein product		615125				11230166	Standard	NM_030816		Approved	DKFZP566D1346, dJ677H15.3	uc001dex.4	Q8N6S4	OTTHUMG00000009343	ENST00000370944.4:c.457A>G	1.37:g.70801756T>C	ENSP00000359982:p.Met153Val					ANKRD13C_ENST00000262346.6_Missense_Mutation_p.M153V	p.M153V	NM_030816.4	NP_110443.3	Q8N6S4	AN13C_HUMAN			2	770	-			153					B3KQ97|Q5VYH4|Q5VYH5|Q6PJE4|Q9H0N9	Missense_Mutation	SNP	ENST00000370944.4	37	c.457A>G	CCDS648.2	.	.	.	.	.	.	.	.	.	.	T	17.13	3.311564	0.60414	.	.	ENSG00000118454	ENST00000370944;ENST00000262346	T;T	0.64085	-0.08;1.43	5.28	5.28	0.74379	Ankyrin repeat-containing domain (4);	0.000000	0.85682	D	0.000000	T	0.46444	0.1393	L	0.28115	0.83	0.58432	D	0.999997	P;P	0.50617	0.937;0.885	P;P	0.51297	0.661;0.665	T	0.48875	-0.8996	10	0.35671	T	0.21	.	12.5874	0.56424	0.0:0.0:0.0:1.0	.	153;153	Q8N6S4-2;Q8N6S4	.;AN13C_HUMAN	V	153	ENSP00000359982:M153V;ENSP00000262346:M153V	ENSP00000262346:M153V	M	-	1	0	ANKRD13C	70574344	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.839000	0.62810	1.988000	0.58038	0.379000	0.24179	ATG		0.219	ANKRD13C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025903.1	NM_030816		4	18	0	0	0	0.150653	0	4	18					C	70801756	T	C	70801756	3	2	56	1	0	0	0	0	1	0	0	0	643	1435	50	4	1216	4	ANKRD13C	1	70801756	Missense_Mutation	SNP	T	TCGA-EJ-5507-01A-01D-1576-08		70801756	178448865	1	2873											
SV2A	9900	broad.mit.edu	37	chr1	149884960	149884960	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgttgggccagttcttctcGttctttccgtcgttgtgcct	1	18	10	12	3	3	0	0	0	3	0	6	0	4	0	3	1	1	4	3	1	0	6			TCGA-EJ-5507-01A-01D-1576-08	TCGA-EJ-5507-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5048e04-2519-42cc-8990-41612b2ad528	8285618d-a4b6-4641-b39e-18b2d8a40bcc	g.chr1:149884960G>A	ENST00000369146.3	-	2	923	c.433C>T	c.(433-435)Cga>Tga	p.R145*	SV2A_ENST00000369145.1_Nonsense_Mutation_p.R145*	NM_001278719.1|NM_014849.3	NP_001265648.1|NP_055664.3	Q7L0J3	SV2A_HUMAN	synaptic vesicle glycoprotein 2A	145					cellular calcium ion homeostasis (GO:0006874)|neurotransmitter transport (GO:0006836)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuromuscular junction (GO:0031594)|neuron projection (GO:0043005)|presynaptic active zone (GO:0048786)|synaptic vesicle (GO:0008021)|synaptic vesicle membrane (GO:0030672)	protein kinase binding (GO:0019901)|receptor activity (GO:0004872)|transmembrane transporter activity (GO:0022857)	p.R145*(1)		breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(16)|ovary(6)|pancreas(1)|prostate(8)|skin(2)|urinary_tract(2)	55	Breast(34;0.00769)|all_hematologic(923;0.127)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)		Levetiracetam(DB01202)	AGTTCTTCTCGTTCTTTCCGT	0.637																																						ENST00000369146.3																			1	Substitution - Nonsense(1)	p.R145*(1)	prostate(1)	breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(16)|ovary(6)|pancreas(1)|prostate(8)|skin(2)|urinary_tract(2)	55						c.(433-435)Cga>Tga		synaptic vesicle glycoprotein 2A	Levetiracetam(DB01202)						118	117	117					1																	149884960		2203	4300	6503	SO:0001587	stop_gained	0				neurotransmitter transport	cell junction|endoplasmic reticulum|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity	g.chr1:149884960G>A	AB018279	CCDS940.1	1q21.2	2008-02-05			ENSG00000159164	ENSG00000159164			20566	protein-coding gene	gene with protein product		185860				7681585, 10611374	Standard	NM_014849		Approved	SV2, KIAA0736	uc001etg.3	Q7L0J3	OTTHUMG00000012209	ENST00000369146.3:c.433C>T	1.37:g.149884960G>A	ENSP00000358142:p.Arg145*					SV2A_ENST00000369145.1_Nonsense_Mutation_p.R145*	p.R145*	NM_014849.3	NP_055664.3	Q7L0J3	SV2A_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)		2	923	-	Breast(34;0.00769)|all_hematologic(923;0.127)|Colorectal(459;0.171)		145					D3DUZ7|O94841|Q5QNX8|Q7Z3L6|Q8NBJ6|Q9BVZ9	Nonsense_Mutation	SNP	ENST00000369146.3	37	c.433C>T	CCDS940.1	.	.	.	.	.	.	.	.	.	.	G	39	7.607869	0.98387	.	.	ENSG00000159164	ENST00000369146;ENST00000369145	.	.	.	5.07	3.02	0.34903	.	0.490245	0.19507	N	0.112596	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.21014	T	0.42	-18.9207	12.8897	0.58064	0.0:0.0:0.5883:0.4117	.	.	.	.	X	145	.	ENSP00000358141:R145X	R	-	1	2	SV2A	148151584	0.059000	0.20769	0.978000	0.43139	0.994000	0.84299	0.498000	0.22530	1.344000	0.45657	0.557000	0.71058	CGA		0.637	SV2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033754.1			35	62	0	0	0	0.819951	0	35	62					A	149884960	G	A	149884960	4	1	56	1	0	0	0	0	0	1	0	0	15414	1153	40	1	1843	1	SV2A	1	149884960	Nonsense_Mutation	SNP	G	TCGA-EJ-5507-01A-01D-1576-08	79083204	149884960	99365661	2	2874											
PBX1	5087	broad.mit.edu	37	chr1	164789324	164789324	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tccaggttcttccagttcttTtaacatgtcaaactctggag	9	15	7	10	0	4	0	1	0	3	0	6	1	6	1	2	2	2	2	2	2	2	5			TCGA-EJ-5507-01A-01D-1576-08	TCGA-EJ-5507-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5048e04-2519-42cc-8990-41612b2ad528	8285618d-a4b6-4641-b39e-18b2d8a40bcc	g.chr1:164789324T>G	ENST00000420696.2	+	7	1201	c.1013T>G	c.(1012-1014)tTt>tGt	p.F338C	PBX1_ENST00000540236.1_Missense_Mutation_p.F338C|PBX1_ENST00000559240.1_Intron|PBX1_ENST00000560641.1_Missense_Mutation_p.F233C|PBX1_ENST00000367897.1_Intron|PBX1_ENST00000401534.1_Intron|PBX1_ENST00000540246.1_Missense_Mutation_p.F233C	NM_001204961.1|NM_001204963.1|NM_002585.3	NP_001191890.1|NP_001191892.1|NP_002576.1	P40424	PBX1_HUMAN	pre-B-cell leukemia homeobox 1	338					adrenal gland development (GO:0030325)|anterior/posterior pattern specification (GO:0009952)|branching involved in ureteric bud morphogenesis (GO:0001658)|embryonic hemopoiesis (GO:0035162)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal system development (GO:0048706)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|organ morphogenesis (GO:0009887)|positive regulation of cell proliferation (GO:0008284)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|proximal/distal pattern formation (GO:0009954)|regulation of ossification (GO:0030278)|sex differentiation (GO:0007548)|spleen development (GO:0048536)|steroid biosynthetic process (GO:0006694)|thymus development (GO:0048538)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)	p.F338C(1)	EWSR1/PBX1(3)	large_intestine(1)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	4						TCCAGTTCTTTTAACATGTCA	0.473			T	"TCF3, EWSR1"	"pre B-ALL, myoepithelioma"																																	ENST00000420696.2				Dom	yes		1	1q23	5087	T	pre-B-cell leukemia transcription factor 1			"L, M"	"TCF3, EWSR1"		"pre B-ALL, myoepithelioma"	EWSR1/PBX1(3)	1	Substitution - Missense(1)	p.F338C(1)	prostate(1)	large_intestine(1)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	4						c.(1012-1014)tTt>tGt		pre-B-cell leukemia homeobox 1							77	76	76					1																	164789324		2203	4300	6503	SO:0001583	missense	5087				negative regulation of sequence-specific DNA binding transcription factor activity|sex differentiation|steroid biosynthetic process	cytoplasm|nucleus	sequence-specific DNA binding transcription factor activity|transcription factor binding	g.chr1:164789324T>G	M86546	CCDS1246.1, CCDS55654.1	1q23.3	2011-06-20	2007-01-30		ENSG00000185630	ENSG00000185630		"Homeoboxes / TALE class"	8632	protein-coding gene	gene with protein product		176310	"pre-B-cell leukemia transcription factor 1"				Standard	NM_002585		Approved		uc001gct.3	P40424	OTTHUMG00000034307	ENST00000420696.2:c.1013T>G	1.37:g.164789324T>G	ENSP00000405890:p.Phe338Cys					PBX1_ENST00000560641.1_Missense_Mutation_p.F233C|PBX1_ENST00000367897.1_Intron|PBX1_ENST00000401534.1_Intron|PBX1_ENST00000559240.1_Intron|PBX1_ENST00000540246.1_Missense_Mutation_p.F233C|PBX1_ENST00000540236.1_Missense_Mutation_p.F338C	p.F338C	NM_001204961.1|NM_001204963.1|NM_002585.3	NP_001191890.1|NP_001191892.1|NP_002576.1	P40424	PBX1_HUMAN			7	1201	+			338					B4DSC1|F5H4U9|Q5T488	Missense_Mutation	SNP	ENST00000420696.2	37	c.1013T>G	CCDS1246.1	.	.	.	.	.	.	.	.	.	.	T	21.5	4.161543	0.78226	.	.	ENSG00000185630	ENST00000420696;ENST00000540236;ENST00000540246	D;D;D	0.89343	-2.42;-2.42;-2.5	5.61	5.61	0.85477	.	0.097622	0.64402	D	0.000001	D	0.92407	0.7590	M	0.77103	2.36	.	.	.	D;D;D;D	0.67145	0.987;0.992;0.995;0.996	P;P;D;P	0.63703	0.765;0.765;0.917;0.765	D	0.92585	0.6078	9	0.48119	T	0.1	-6.3713	15.47	0.75434	0.0:0.0:0.0:1.0	.	233;338;338;338	B7Z774;A8K5V0;F5H4U9;P40424	.;.;.;PBX1_HUMAN	C	338;338;233	ENSP00000405890:F338C;ENSP00000439943:F338C;ENSP00000440869:F233C	ENSP00000405890:F338C	F	+	2	0	PBX1	163055948	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.859000	0.69539	2.134000	0.65973	0.533000	0.62120	TTT		0.473	PBX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000082864.4	NM_002585		20	131	0	0	0	0.624587	0	20	131					G	164789324	T	G	164789324	3	3	56	1	0	0	0	0	1	0	0	0	11492	1841	64	5	1039	5	PBX1	1	164789324	Missense_Mutation	SNP	T	TCGA-EJ-5507-01A-01D-1576-08	14904364	164789324	84461297	3	2875											
FER1L5	81562	broad.mit.edu	37	chr2	97369281	97369281	+	IGR	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gcaaggtgaagatgagcctgGagattctgtcagagaaggaa	14	7	15	5	0	2	5	1	2	1	3	2	8	2	6	1	3	1	1	1	3	4	1			TCGA-EJ-5507-01A-01D-1576-08	TCGA-EJ-5507-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5048e04-2519-42cc-8990-41612b2ad528	8285618d-a4b6-4641-b39e-18b2d8a40bcc	g.chr2:97369281G>A	ENST00000264963.4	-	0	2397				FER1L5_ENST00000457909.1_RNA	NM_030805.3	NP_110432.1	Q9H0V9	LMA2L_HUMAN	lectin, mannose-binding 2-like						ER to Golgi vesicle-mediated transport (GO:0006888)|protein folding (GO:0006457)|protein transport (GO:0015031)	endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle (GO:0030134)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	mannose binding (GO:0005537)|metal ion binding (GO:0046872)	p.E1941K(1)		NS(1)|breast(1)|endometrium(1)|lung(2)|skin(1)|urinary_tract(1)	7						GATGAGCCTGGAGATTCTGTC	0.577																																						ENST00000457909.1																			1	Substitution - Missense(1)	p.E1941K(1)	prostate(1)	NS(1)|autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(9)|large_intestine(9)|lung(6)|ovary(2)|prostate(2)|skin(1)|urinary_tract(2)	38								fer-1-like 5 (C. elegans)							58	63	61					2																	97369281		1952	4146	6098	SO:0001628	intergenic_variant	90342					integral to membrane		g.chr2:97369281G>A	AL136617	CCDS2023.1, CCDS46365.1	2q11.1	2008-02-05			ENSG00000114988	ENSG00000114988			19263	protein-coding gene	gene with protein product		609552				12609988	Standard	NM_001142292		Approved	DKFZp564L2423, VIPL	uc002swv.3	Q9H0V9	OTTHUMG00000130453		2.37:g.97369281G>A										A0AVI2	FR1L5_HUMAN			0	5216	+								B4DSH3|D3DXH6|Q53GV3|Q53S67|Q63HN6|Q8NBQ6|Q9BQ14	RNA	SNP	ENST00000264963.4	37		CCDS2023.1	.	.	.	.	.	.	.	.	.	.	G	13.45	2.242315	0.39598	.	.	ENSG00000214272	ENST00000414152;ENST00000436930;ENST00000397978	.	.	.	5.67	5.67	0.87782	.	0.000000	0.45361	U	0.000377	D	0.85292	0.5663	M	0.89095	3.005	.	.	.	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.996;0.996;0.998	D	0.87541	0.2459	8	0.87932	D	0	-33.5282	18.547	0.91050	0.0:0.0:1.0:0.0	.	649;1941;650	B7ZLI3;A0AVI2;A0AVI2-2	.;FR1L5_HUMAN;.	K	1941;1945;650	.	ENSP00000442027:E650K	E	+	1	0	FER1L5	96733008	1.000000	0.71417	0.998000	0.56505	0.726000	0.41606	7.607000	0.82883	2.676000	0.91093	0.655000	0.94253	GAG		0.577	LMAN2L-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000252844.1	NM_030805		7	57	0	0	0	0.248553	0	7	57					A	97369281	G	A	97369281	1	1	56	0	1	0	0	0	0	0	0	0	5814	1175	41	3		3	FER1L5	2	97369281	IGR	SNP	G	TCGA-EJ-5507-01A-01D-1576-08		97369281	145830092	4	2876											
SCN7A	6332	broad.mit.edu	37	chr2	167304172	167304172	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acacatccaatgatgtgtctGtggaaattggtgaccttttc	10	14	9	8	0	1	2	0	2	1	0	3	3	2	3	2	2	0	0	2	2	2	3			TCGA-EJ-5507-01A-01D-1576-08	TCGA-EJ-5507-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5048e04-2519-42cc-8990-41612b2ad528	8285618d-a4b6-4641-b39e-18b2d8a40bcc	g.chr2:167304172G>T	ENST00000409855.1	-	11	1463	c.1337C>A	c.(1336-1338)aCa>aAa	p.T446K		NM_002976.3	NP_002967.2	Q01118	SCN7A_HUMAN	sodium channel, voltage-gated, type VII, alpha subunit	446					membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|neuronal action potential (GO:0019228)|sodium ion homeostasis (GO:0055078)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	glial cell projection (GO:0097386)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)	p.T446K(3)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44					Valproic Acid(DB00313)	TGATGTGTCTGTGGAAATTGG	0.378																																						ENST00000409855.1																			3	Substitution - Missense(3)	p.T446K(3)	prostate(3)	breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44						c.(1336-1338)aCa>aAa		sodium channel, voltage-gated, type VII, alpha subunit							253	229	237					2																	167304172		1857	4098	5955	SO:0001583	missense	6332				muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:167304172G>T	M91556	CCDS46442.1	2q21-q23	2012-03-05	2012-02-28	2002-06-14	ENSG00000136546	ENSG00000136546		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10594	protein-coding gene	gene with protein product		182392	"sodium channel, voltage-gated, type VI, alpha", "sodium channel, voltage-gated, type VII, alpha"	SCN6A		10198179	Standard	NM_002976		Approved	Nav2.1, Nav2.2, NaG	uc002udu.2	Q01118	OTTHUMG00000154078	ENST00000409855.1:c.1337C>A	2.37:g.167304172G>T	ENSP00000386796:p.Thr446Lys						p.T446K	NM_002976.3	NP_002967.2	Q01118	SCN7A_HUMAN			11	1463	-			446						Missense_Mutation	SNP	ENST00000409855.1	37	c.1337C>A	CCDS46442.1	.	.	.	.	.	.	.	.	.	.	g	9.496	1.102033	0.20632	.	.	ENSG00000136546	ENST00000409855;ENST00000259060;ENST00000419992	D;D	0.96459	-3.99;-4.02	5.13	0.0485	0.14285	.	1.451170	0.03833	N	0.269437	D	0.91563	0.7335	L	0.34521	1.04	0.09310	N	1	B	0.17667	0.023	B	0.15870	0.014	T	0.80462	-0.1372	10	0.34782	T	0.22	.	0.999	0.01473	0.3476:0.1683:0.3209:0.1632	.	446	Q01118	SCN7A_HUMAN	K	446	ENSP00000386796:T446K;ENSP00000413699:T446K	ENSP00000259060:T446K	T	-	2	0	SCN7A	167012418	0.000000	0.05858	0.000000	0.03702	0.097000	0.18754	-0.012000	0.12699	0.422000	0.26005	0.586000	0.80456	ACA		0.378	SCN7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333745.1			45	149	1	0	9.40368e-32	0.870114	1.13228e-31	45	149					T	167304172	G	T	167304172	3	4	56	1	0	0	0	0	1	0	0	0	13923	1377	48	5	3771	5	SCN7A	2	167304172	Missense_Mutation	SNP	G	TCGA-EJ-5507-01A-01D-1576-08	69934891	167304172	75895201	5	2877											
VILL	50853	broad.mit.edu	37	chr3	38048106	38048106	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtcagcagcaccagcgccaCgatcaacgggggcctgcgcc	8	3	13	17	5	2	0	2	0	0	0	2	1	2	0	4	2	5	2	4	2	1	0			TCGA-EJ-5507-01A-01D-1576-08	TCGA-EJ-5507-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5048e04-2519-42cc-8990-41612b2ad528	8285618d-a4b6-4641-b39e-18b2d8a40bcc	g.chr3:38048106C>T	ENST00000283713.6	+	19	2638	c.2372C>T	c.(2371-2373)aCg>aTg	p.T791M	VILL_ENST00000465644.1_Missense_Mutation_p.T509M|VILL_ENST00000383759.2_Missense_Mutation_p.T791M			O15195	VILL_HUMAN	villin-like	791	HP. {ECO:0000255|PROSITE- ProRule:PRU00595}.				actin filament capping (GO:0051693)|cytoskeleton organization (GO:0007010)	actin cytoskeleton (GO:0015629)	structural constituent of cytoskeleton (GO:0005200)	p.T791M(1)		cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|stomach(3)|urinary_tract(2)	28				KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)		ACCAGCGCCACGATCAACGGG	0.667																																						ENST00000283713.6																			1	Substitution - Missense(1)	p.T791M(1)	prostate(1)	cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|stomach(3)|urinary_tract(2)	28						c.(2371-2373)aCg>aTg		villin-like							28	34	32					3																	38048106		2203	4297	6500	SO:0001583	missense	50853				actin filament capping|cytoskeleton organization	actin cytoskeleton	actin binding|structural constituent of cytoskeleton	g.chr3:38048106C>T		CCDS2670.2	3p21	2004-07-28			ENSG00000136059	ENSG00000136059			30906	protein-coding gene	gene with protein product						9179494	Standard	XM_005265191		Approved		uc003chl.3	O15195	OTTHUMG00000130814	ENST00000283713.6:c.2372C>T	3.37:g.38048106C>T	ENSP00000283713:p.Thr791Met					VILL_ENST00000383759.2_Missense_Mutation_p.T791M|VILL_ENST00000465644.1_Missense_Mutation_p.T509M	p.T791M			O15195	VILL_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)	19	2638	+			791			HP.		A8MZP1|Q9BT80|Q9BWH7	Missense_Mutation	SNP	ENST00000283713.6	37	c.2372C>T	CCDS2670.2	.	.	.	.	.	.	.	.	.	.	c	8.400	0.841650	0.16963	.	.	ENSG00000136059	ENST00000283713;ENST00000383759;ENST00000356246;ENST00000465644	T;T;T	0.14766	2.56;2.56;2.48	4.19	-2.24	0.06909	Villin headpiece (3);	3.181230	0.01139	N	0.006171	T	0.05456	0.0144	N	0.02539	-0.55	0.09310	N	1	B	0.24576	0.106	B	0.17433	0.018	T	0.26467	-1.0102	10	0.28530	T	0.3	-0.0346	5.7591	0.18190	0.0:0.4438:0.144:0.4122	.	791	O15195	VILL_HUMAN	M	791;791;777;509	ENSP00000283713:T791M;ENSP00000373266:T791M;ENSP00000422096:T509M	ENSP00000283713:T791M	T	+	2	0	VILL	38023110	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-0.604000	0.05667	-0.519000	0.06444	0.457000	0.33378	ACG		0.667	VILL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253360.3	NM_015873		25	52	0	0	0	0.769981	0	25	52					T	38048106	C	T	38048106	3	4	56	1	0	0	0	0	1	0	0	0	17162	536	19	1	2442	1	VILL	3	38048106	Missense_Mutation	SNP	C	TCGA-EJ-5507-01A-01D-1576-08		38048106	159974324	6	2878											
NBEAL2	23218	broad.mit.edu	37	chr3	47036899	47036899	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctggaaaggcccgacacgcAggtgctgtcatccgcacatt	9	7	12	13	3	1	0	1	0	0	0	2	2	2	1	2	3	1	4	2	3	1	1			TCGA-EJ-5507-01A-01D-1576-08	TCGA-EJ-5507-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5048e04-2519-42cc-8990-41612b2ad528	8285618d-a4b6-4641-b39e-18b2d8a40bcc	g.chr3:47036899A>G	ENST00000450053.3	+	13	1853	c.1674A>G	c.(1672-1674)gcA>gcG	p.A558A	NBEAL2_ENST00000383740.2_5'UTR|NBEAL2_ENST00000292309.5_Silent_p.A558A	NM_015175.2	NP_055990.1	Q6ZNJ1	NBEL2_HUMAN	neurobeachin-like 2	558					blood coagulation (GO:0007596)|megakaryocyte development (GO:0035855)|platelet alpha granule organization (GO:0070889)|platelet formation (GO:0030220)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)		p.A119A(1)|p.A558A(1)		NS(1)|breast(1)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(9)|lung(9)|ovary(4)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Acute lymphoblastic leukemia(5;0.0534)		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)		CCCGACACGCAGGTGCTGTCA	0.632																																						ENST00000450053.3																			2	Substitution - coding silent(2)	p.A119A(1)|p.A558A(1)	prostate(2)	NS(1)|breast(1)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(9)|lung(9)|ovary(4)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	51						c.(1672-1674)gcA>gcG		neurobeachin-like 2							35	41	39					3																	47036899		2159	4255	6414	SO:0001819	synonymous_variant	23218						binding	g.chr3:47036899A>G	AB011112	CCDS46817.1	3p21.31	2014-09-17			ENSG00000160796	ENSG00000160796		"WD repeat domain containing"	31928	protein-coding gene	gene with protein product		614169					Standard	NM_015175		Approved	KIAA0540	uc003cqp.3	Q6ZNJ1	OTTHUMG00000156497	ENST00000450053.3:c.1674A>G	3.37:g.47036899A>G						NBEAL2_ENST00000383740.2_5'UTR|NBEAL2_ENST00000292309.5_Silent_p.A558A	p.A558A	NM_015175.2	NP_055990.1	Q6ZNJ1	NBEL2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)	13	1853	+		Acute lymphoblastic leukemia(5;0.0534)	558					O60288|Q6P994|Q6UX91|Q8NAC9	Silent	SNP	ENST00000450053.3	37	c.1674A>G	CCDS46817.1	.	.	.	.	.	.	.	.	.	.	A	5.292	0.239302	0.10023	.	.	ENSG00000160796	ENST00000416683	.	.	.	4.68	-4.62	0.03370	.	.	.	.	.	T	0.36799	0.0980	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.39313	-0.9620	4	.	.	.	.	1.6302	0.02731	0.3561:0.2502:0.2792:0.1145	.	.	.	.	R	30	.	.	Q	+	2	0	NBEAL2	47011903	0.001000	0.12720	0.383000	0.26132	0.379000	0.30106	-1.710000	0.01888	-0.515000	0.06479	0.533000	0.62120	CAG		0.632	NBEAL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344363.3	XM_291064		17	35	0	0	0	0.592651	0	17	35					G	47036899	A	G	47036899	2	3	56	1	0	0	0	0	0	0	0	1	10189	175	7	4		4	NBEAL2	3	47036899	Silent	SNP	A	TCGA-EJ-5507-01A-01D-1576-08	8988793	47036899	150985531	7	2879											
DOCK3	1795	broad.mit.edu	37	chr3	51347719	51347719	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ctgatgaagatgagtgtcttCcctcgggactggatggtaat	9	12	13	7	1	1	4	0	3	1	1	3	6	2	6	1	3	0	1	1	3	2	2			TCGA-EJ-5507-01A-01D-1576-08	TCGA-EJ-5507-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5048e04-2519-42cc-8990-41612b2ad528	8285618d-a4b6-4641-b39e-18b2d8a40bcc	g.chr3:51347719C>T	ENST00000266037.9	+	28	3002	c.2979C>T	c.(2977-2979)ttC>ttT	p.F993F		NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	993					small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)	p.F993F(2)|p.F982F(1)		breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		TGAGTGTCTTCCCTCGGGACT	0.463																																						ENST00000266037.9																			3	Substitution - coding silent(3)	p.F993F(2)|p.F982F(1)	prostate(3)	breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45						c.(2977-2979)ttC>ttT		dedicator of cytokinesis 3							148	139	142					3																	51347719		1975	4157	6132	SO:0001819	synonymous_variant	1795					cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding	g.chr3:51347719C>T	AB002297	CCDS46835.1	3p21	2008-02-01			ENSG00000088538	ENSG00000088538			2989	protein-coding gene	gene with protein product		603123	"dedicator of cyto-kinesis 3"			9205841	Standard	NM_004947		Approved	KIAA0299, MOCA, PBP	uc011bds.2	Q8IZD9	OTTHUMG00000156892	ENST00000266037.9:c.2979C>T	3.37:g.51347719C>T							p.F993F	NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)	28	3002	+			993					O15017	Silent	SNP	ENST00000266037.9	37	c.2979C>T	CCDS46835.1																																																																																				0.463	DOCK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346478.5	NM_004947		8	12	0	0	0	0.307466	0	8	12					T	51347719	C	T	51347719	2	4	56	1	0	0	0	0	0	0	0	1	4688	854	30	3		3	DOCK3	3	51347719	Silent	SNP	C	TCGA-EJ-5507-01A-01D-1576-08	4310820	51347719	146674711	8	2880											
MME	4311	broad.mit.edu	37	chr3	154860109	154860109	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctacaaggagtccagaaatgCtttccgcaaggtgaagaaaa	16	7	10	8	1	0	3	0	1	0	2	2	4	2	4	2	2	2	2	2	2	7	2			TCGA-EJ-5507-01A-01D-1576-08	TCGA-EJ-5507-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5048e04-2519-42cc-8990-41612b2ad528	8285618d-a4b6-4641-b39e-18b2d8a40bcc	g.chr3:154860109C>A	ENST00000460393.1	+	12	1298	c.1178C>A	c.(1177-1179)gCt>gAt	p.A393D	MME_ENST00000492661.1_Missense_Mutation_p.A393D|MME_ENST00000493237.1_Missense_Mutation_p.A393D|MME_ENST00000360490.2_Missense_Mutation_p.A393D|MME_ENST00000462745.1_Missense_Mutation_p.A393D	NM_000902.3|NM_007287.2	NP_000893.2|NP_009218.2	P08473	NEP_HUMAN	membrane metallo-endopeptidase	393					angiotensin maturation (GO:0002003)|beta-amyloid metabolic process (GO:0050435)|cellular protein metabolic process (GO:0044267)|cellular response to cytokine stimulus (GO:0071345)|cellular response to UV-A (GO:0071492)|cellular response to UV-B (GO:0071493)|creatinine metabolic process (GO:0046449)|kidney development (GO:0001822)|peptide metabolic process (GO:0006518)|proteolysis (GO:0006508)|replicative senescence (GO:0090399)|sensory perception of pain (GO:0019233)	axon (GO:0030424)|brush border (GO:0005903)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|neuron projection terminus (GO:0044306)|plasma membrane (GO:0005886)|synapse (GO:0045202)|synaptic vesicle (GO:0008021)	endopeptidase activity (GO:0004175)|metalloendopeptidase activity (GO:0004222)|peptide binding (GO:0042277)|zinc ion binding (GO:0008270)	p.A393D(1)		central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(31)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64		all_neural(597;0.00391)|Myeloproliferative disorder(1037;0.0122)	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.135)		Candoxatril(DB00616)|Liraglutide(DB06655)	TCCAGAAATGCTTTCCGCAAG	0.378																																						ENST00000460393.1																			1	Substitution - Missense(1)	p.A393D(1)	prostate(1)	central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(31)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64						c.(1177-1179)gCt>gAt		membrane metallo-endopeptidase	Candoxatril(DB00616)						65	68	67					3																	154860109		2203	4300	6503	SO:0001583	missense	4311				cell-cell signaling|proteolysis	integral to plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding	g.chr3:154860109C>A		CCDS3172.1	3q25.2	2012-01-31	2007-02-21		ENSG00000196549	ENSG00000196549	3.4.24.11	"CD molecules"	7154	protein-coding gene	gene with protein product	"neutral endopeptidase", "enkephalinase", "neprilysin"	120520					Standard	NM_007287		Approved	CALLA, CD10, NEP	uc003fad.1	P08473	OTTHUMG00000158455	ENST00000460393.1:c.1178C>A	3.37:g.154860109C>A	ENSP00000418525:p.Ala393Asp					MME_ENST00000493237.1_Missense_Mutation_p.A393D|MME_ENST00000492661.1_Missense_Mutation_p.A393D|MME_ENST00000462745.1_Missense_Mutation_p.A393D|MME_ENST00000360490.2_Missense_Mutation_p.A393D	p.A393D	NM_000902.3|NM_007287.2	NP_000893.2|NP_009218.2	P08473	NEP_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.135)		12	1298	+		all_neural(597;0.00391)|Myeloproliferative disorder(1037;0.0122)	393					A8K6U6|D3DNJ9|Q3MIX4	Missense_Mutation	SNP	ENST00000460393.1	37	c.1178C>A	CCDS3172.1	.	.	.	.	.	.	.	.	.	.	C	6.260	0.416064	0.11870	.	.	ENSG00000196549	ENST00000492661;ENST00000460393;ENST00000462745;ENST00000493237;ENST00000360490	T;T;T;T;T	0.73152	-0.72;-0.72;-0.72;-0.72;-0.72	5.93	5.93	0.95920	Peptidase M13 (1);Metallopeptidase, catalytic domain (1);	0.170160	0.51477	D	0.000091	T	0.55433	0.1920	N	0.26130	0.795	0.42668	D	0.993506	B	0.15930	0.015	B	0.14023	0.01	T	0.50634	-0.8805	10	0.16896	T	0.51	-23.1534	11.5665	0.50809	0.1391:0.7268:0.1341:0.0	.	393	P08473	NEP_HUMAN	D	393	ENSP00000420389:A393D;ENSP00000418525:A393D;ENSP00000419653:A393D;ENSP00000417079:A393D;ENSP00000353679:A393D	ENSP00000353679:A393D	A	+	2	0	MME	156342803	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.522000	0.53480	2.803000	0.96430	0.585000	0.79938	GCT		0.378	MME-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351076.1	NM_000902		10	166	1	0	0.000673444	0.361761	0.0007641	10	166					A	154860109	C	A	154860109	3	1	56	1	0	0	0	0	1	0	0	0	9645	797	28	5	1220	5	MME	3	154860109	Missense_Mutation	SNP	C	TCGA-EJ-5507-01A-01D-1576-08	103512390	154860109	43162321	9	2881											
LPHN3	23284	broad.mit.edu	37	chr4	62813870	62813870	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	attttggagctactccaagcGtacaatgacaggttattggt	11	13	10	7	1	0	1	0	1	0	0	1	2	1	2	1	3	4	3	1	3	5	6	rs372785017		TCGA-EJ-5507-01A-01D-1576-08	TCGA-EJ-5507-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5048e04-2519-42cc-8990-41612b2ad528	8285618d-a4b6-4641-b39e-18b2d8a40bcc	g.chr4:62813870G>A	ENST00000514591.1	+	16	2806	c.2477G>A	c.(2476-2478)cGt>cAt	p.R826H	LPHN3_ENST00000508946.1_Missense_Mutation_p.R826H|LPHN3_ENST00000504896.1_Missense_Mutation_p.R826H|LPHN3_ENST00000506720.1_Missense_Mutation_p.R894H|LPHN3_ENST00000506746.1_Missense_Mutation_p.R894H|LPHN3_ENST00000512091.2_Missense_Mutation_p.R826H|LPHN3_ENST00000507625.1_Missense_Mutation_p.R894H|LPHN3_ENST00000545650.1_Missense_Mutation_p.R826H|LPHN3_ENST00000511324.1_Missense_Mutation_p.R894H|LPHN3_ENST00000507164.1_Missense_Mutation_p.R894H|LPHN3_ENST00000514157.1_Missense_Mutation_p.R826H|LPHN3_ENST00000508693.1_Missense_Mutation_p.R894H|LPHN3_ENST00000506700.1_Missense_Mutation_p.R826H|LPHN3_ENST00000509896.1_Missense_Mutation_p.R894H|LPHN3_ENST00000514996.1_Missense_Mutation_p.R826H			Q9HAR2	LPHN3_HUMAN	latrophilin 3	813	GPS. {ECO:0000255|PROSITE- ProRule:PRU00098}.				G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|G-protein coupled receptor activity (GO:0004930)	p.R826H(3)		breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						TACTCCAAGCGTACAATGACA	0.383																																						ENST00000512091.1																			3	Substitution - Missense(3)	p.R826H(3)	prostate(3)	breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						c.(2476-2478)cGt>cAt		latrophilin 3		G	HIS/ARG	0,3750		0,0,1875	88	78	81		2477	6	1	4		81	1,8211		0,1,4105	no	missense	LPHN3	NM_015236.4	29	0,1,5980	AA,AG,GG		0.0122,0.0,0.0084	benign	826/1470	62813870	1,11961	1875	4106	5981	SO:0001583	missense	23284				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding	g.chr4:62813870G>A	AB018311	CCDS54768.1	4q13.1	2014-08-08				ENSG00000150471		"-", "GPCR / Class B : Orphans"	20974	protein-coding gene	gene with protein product						10994649	Standard	NM_015236		Approved	KIAA0768, LEC3	uc010ihh.3	Q9HAR2		ENST00000514591.1:c.2477G>A	4.37:g.62813870G>A	ENSP00000422533:p.Arg826His					LPHN3_ENST00000504896.1_Missense_Mutation_p.R826H|LPHN3_ENST00000514157.1_Missense_Mutation_p.R826H|LPHN3_ENST00000511324.1_Missense_Mutation_p.R894H|LPHN3_ENST00000506700.1_Missense_Mutation_p.R826H|LPHN3_ENST00000506720.1_Missense_Mutation_p.R894H|LPHN3_ENST00000506746.1_Missense_Mutation_p.R894H|LPHN3_ENST00000509896.1_Missense_Mutation_p.R894H|LPHN3_ENST00000508946.1_Missense_Mutation_p.R826H|LPHN3_ENST00000514591.1_Missense_Mutation_p.R826H|LPHN3_ENST00000545650.1_Missense_Mutation_p.R826H|LPHN3_ENST00000507625.1_Missense_Mutation_p.R894H|LPHN3_ENST00000514996.1_Missense_Mutation_p.R826H|LPHN3_ENST00000507164.1_Missense_Mutation_p.R894H|LPHN3_ENST00000508693.1_Missense_Mutation_p.R894H	p.R826H			Q9HAR2	LPHN3_HUMAN			16	3224	+			813			GPS.		E9PE04|O94867|Q9NWK5	Missense_Mutation	SNP	ENST00000514591.1	37	c.2477G>A	CCDS54768.1	.	.	.	.	.	.	.	.	.	.	G	19.43	3.826766	0.71143	0.0	1.22E-4	ENSG00000150471	ENST00000512091;ENST00000514591;ENST00000509896;ENST00000511324;ENST00000506700;ENST00000545650;ENST00000295349;ENST00000280009;ENST00000507164;ENST00000508693;ENST00000507625;ENST00000514157;ENST00000504896;ENST00000508946;ENST00000506720;ENST00000506746;ENST00000514996	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.70869	-0.49;-0.49;-0.5;-0.49;-0.48;-0.49;-0.49;-0.5;-0.49;-0.48;-0.49;-0.51;-0.52;-0.51;-0.5	5.98	5.98	0.97165	GPS domain (3);	0.113991	0.53938	D	0.000055	T	0.79094	0.4388	L	0.39467	1.215	0.43564	D	0.995889	D;D;D	0.76494	0.999;0.999;0.993	D;D;P	0.63033	0.91;0.91;0.799	T	0.78339	-0.2242	10	0.56958	D	0.05	.	20.5212	0.99222	0.0:0.0:1.0:0.0	.	826;813;826	E9PE04;Q9HAR2;Q9HAR2-2	.;LPHN3_HUMAN;.	H	826;826;894;894;826;826;813;826;894;894;894;826;826;826;894;894;826	ENSP00000423388:R826H;ENSP00000422533:R826H;ENSP00000423787:R894H;ENSP00000425033:R894H;ENSP00000424120:R826H;ENSP00000439831:R826H;ENSP00000421476:R894H;ENSP00000424030:R894H;ENSP00000421372:R894H;ENSP00000425201:R826H;ENSP00000423434:R826H;ENSP00000421627:R826H;ENSP00000420931:R894H;ENSP00000425884:R894H;ENSP00000424258:R826H	ENSP00000280009:R826H	R	+	2	0	LPHN3	62496465	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	3.479000	0.53165	2.861000	0.98227	0.650000	0.86243	CGT		0.383	LPHN3-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000361765.1			27	51	0	0	0	0.717897	0	27	51					A	62813870	G	A	62813870	3	1	56	1	0	0	0	0	1	0	0	0	8917	1145	40	1	2531	1	LPHN3	4	62813870	Missense_Mutation	SNP	G	TCGA-EJ-5507-01A-01D-1576-08		62813870	128340406	10	2882											
MTNR1A	4543	broad.mit.edu	37	chr4	187455565	187455565	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttgaatatggagccgatgaCgctcaggcccatcaggaacc	11	7	12	11	2	2	2	2	2	0	0	2	5	2	4	3	3	2	2	3	3	3	2			TCGA-EJ-5507-01A-01D-1576-08	TCGA-EJ-5507-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5048e04-2519-42cc-8990-41612b2ad528	8285618d-a4b6-4641-b39e-18b2d8a40bcc	g.chr4:187455565C>T	ENST00000307161.5	-	2	532	c.331G>A	c.(331-333)Gtc>Atc	p.V111I	RP11-215A19.2_ENST00000509111.1_Intron	NM_005958.3	NP_005949.1	P48039	MTR1A_HUMAN	melatonin receptor 1A	111					circadian rhythm (GO:0007623)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|mating behavior (GO:0007617)|positive regulation of cGMP biosynthetic process (GO:0030828)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	hormone binding (GO:0042562)|melatonin receptor activity (GO:0008502)|organic cyclic compound binding (GO:0097159)	p.V111I(1)		breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	14		all_cancers(14;6.39e-56)|all_epithelial(14;1.48e-41)|all_lung(41;2.45e-15)|Lung NSC(41;7.26e-15)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00335)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Colorectal(36;0.0161)|Renal(120;0.0183)|all_neural(102;0.202)		OV - Ovarian serous cystadenocarcinoma(60;7.63e-12)|BRCA - Breast invasive adenocarcinoma(30;6.68e-07)|GBM - Glioblastoma multiforme(59;3.44e-05)|LUSC - Lung squamous cell carcinoma(40;0.000106)|STAD - Stomach adenocarcinoma(60;0.000279)|READ - Rectum adenocarcinoma(43;0.159)	Agomelatine(DB06594)|Melatonin(DB01065)|Ramelteon(DB00980)	GAGCCGATGACGCTCAGGCCC	0.517																																						ENST00000307161.5																			1	Substitution - Missense(1)	p.V111I(1)	prostate(1)	breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	14						c.(331-333)Gtc>Atc		melatonin receptor 1A	Melatonin(DB01065)|Ramelteon(DB00980)						135	110	118					4																	187455565		2203	4300	6503	SO:0001583	missense	4543				circadian rhythm|G-protein signaling, coupled to cyclic nucleotide second messenger|mating behavior	integral to plasma membrane	melatonin receptor activity	g.chr4:187455565C>T		CCDS3848.1	4q35	2012-08-08				ENSG00000168412		"GPCR / Class A : Melatonin receptors"	7463	protein-coding gene	gene with protein product		600665				7558006	Standard	NM_005958		Approved	MEL-1A-R	uc003izd.1	P48039		ENST00000307161.5:c.331G>A	4.37:g.187455565C>T	ENSP00000302811:p.Val111Ile					RP11-215A19.2_ENST00000509111.1_Intron	p.V111I	NM_005958.3	NP_005949.1	P48039	MTR1A_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;7.63e-12)|BRCA - Breast invasive adenocarcinoma(30;6.68e-07)|GBM - Glioblastoma multiforme(59;3.44e-05)|LUSC - Lung squamous cell carcinoma(40;0.000106)|STAD - Stomach adenocarcinoma(60;0.000279)|READ - Rectum adenocarcinoma(43;0.159)	2	532	-		all_cancers(14;6.39e-56)|all_epithelial(14;1.48e-41)|all_lung(41;2.45e-15)|Lung NSC(41;7.26e-15)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00335)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Colorectal(36;0.0161)|Renal(120;0.0183)|all_neural(102;0.202)	111					A0AVC5|B0M0L2	Missense_Mutation	SNP	ENST00000307161.5	37	c.331G>A	CCDS3848.1	.	.	.	.	.	.	.	.	.	.	C	24.6	4.545680	0.86022	.	.	ENSG00000168412	ENST00000307161	T	0.72394	-0.65	5.3	5.3	0.74995	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	D	0.84460	0.5477	M	0.75264	2.295	0.58432	D	0.999997	D	0.89917	1.0	D	0.76575	0.988	D	0.86200	0.1618	10	0.87932	D	0	-31.9384	18.959	0.92670	0.0:1.0:0.0:0.0	.	111	P48039	MTR1A_HUMAN	I	111	ENSP00000302811:V111I	ENSP00000302811:V111I	V	-	1	0	MTNR1A	187692559	1.000000	0.71417	1.000000	0.80357	0.796000	0.44982	7.670000	0.83925	2.483000	0.83821	0.655000	0.94253	GTC		0.517	MTNR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360189.1			15	92	0	0	0	0.479597	0	15	92					T	187455565	C	T	187455565	3	4	56	1	0	0	0	0	1	0	0	0	9951	536	19	1	725	1	MTNR1A	4	187455565	Missense_Mutation	SNP	C	TCGA-EJ-5507-01A-01D-1576-08	124641695	187455565	3698711	11	2883											
TRIP13	9319	broad.mit.edu	37	chr5	908175	908175	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ataaagacgccctggtgttcGtgctgattgatgaggtaggc	9	11	14	7	2	0	4	0	3	0	1	1	4	0	4	1	3	1	3	1	3	3	4	rs370247932		TCGA-EJ-5507-01A-01D-1576-08	TCGA-EJ-5507-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5048e04-2519-42cc-8990-41612b2ad528	8285618d-a4b6-4641-b39e-18b2d8a40bcc	g.chr5:908175G>A	ENST00000166345.3	+	8	1101	c.745G>A	c.(745-747)Gtg>Atg	p.V249M		NM_004237.3	NP_004228.1	Q15645	PCH2_HUMAN	thyroid hormone receptor interactor 13	249					double-strand break repair (GO:0006302)|female meiosis I (GO:0007144)|male meiosis I (GO:0007141)|oocyte maturation (GO:0001556)|oogenesis (GO:0048477)|reciprocal meiotic recombination (GO:0007131)|regulation of RNA biosynthetic process (GO:2001141)|spermatid development (GO:0007286)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)|transcription from RNA polymerase II promoter (GO:0006366)	male germ cell nucleus (GO:0001673)|nucleus (GO:0005634)	ATP binding (GO:0005524)|transcription cofactor activity (GO:0003712)	p.V249M(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	18			Epithelial(17;0.00147)|OV - Ovarian serous cystadenocarcinoma(19;0.00271)|all cancers(22;0.00622)|Lung(60;0.165)			CCTGGTGTTCGTGCTGATTGA	0.453																																						ENST00000166345.3																			1	Substitution - Missense(1)	p.V249M(1)	prostate(1)	breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	18						c.(745-747)Gtg>Atg		thyroid hormone receptor interactor 13		G	MET/VAL,MET/VAL	1,4405		0,1,2202	168	156	160		745,745	5.6	1	5		160	0,8600		0,0,4300	no	missense,missense	TRIP13	NM_001166260.1,NM_004237.3	21,21	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging	249/290,249/433	908175	1,13005	2203	4300	6503	SO:0001583	missense	9319				double-strand break repair|reciprocal meiotic recombination|synaptonemal complex assembly|transcription from RNA polymerase II promoter		ATP binding|identical protein binding|nucleoside-triphosphatase activity|transcription cofactor activity	g.chr5:908175G>A	L40384	CCDS3858.1	5p15	2010-04-21			ENSG00000071539	ENSG00000071539		"ATPases / AAA-type"	12307	protein-coding gene	gene with protein product	"thyroid receptor interacting protein 13"	604507				7776974	Standard	NM_004237		Approved	16E1BP	uc003jbr.3	Q15645	OTTHUMG00000090349	ENST00000166345.3:c.745G>A	5.37:g.908175G>A	ENSP00000166345:p.Val249Met						p.V249M	NM_004237.3	NP_004228.1	Q15645	PCH2_HUMAN	Epithelial(17;0.00147)|OV - Ovarian serous cystadenocarcinoma(19;0.00271)|all cancers(22;0.00622)|Lung(60;0.165)		8	1101	+			249					C9K0T3|D3DTC0|O15324	Missense_Mutation	SNP	ENST00000166345.3	37	c.745G>A	CCDS3858.1	.	.	.	.	.	.	.	.	.	.	.	30	5.053497	0.93793	2.27E-4	0.0	ENSG00000071539	ENST00000166345	D	0.95554	-3.74	5.62	5.62	0.85841	ATPase, AAA-type, core (1);ATPase, AAA+ type, core (1);	0.000000	0.85682	D	0.000000	D	0.98194	0.9403	M	0.89715	3.055	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	D	0.98358	1.0547	10	0.59425	D	0.04	1.6987	19.6231	0.95667	0.0:0.0:1.0:0.0	.	249	Q15645	PCH2_HUMAN	M	249	ENSP00000166345:V249M	ENSP00000166345:V249M	V	+	1	0	TRIP13	961175	1.000000	0.71417	0.997000	0.53966	0.967000	0.64934	9.084000	0.94076	2.818000	0.97014	0.655000	0.94253	GTG		0.453	TRIP13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206721.2	NM_004237		58	193	0	0	0	0.870114	0	58	193					A	908175	G	A	908175	3	1	56	1	0	0	0	0	1	0	0	0	16554	1145	40	1	775	1	TRIP13	5	908175	Missense_Mutation	SNP	G	TCGA-EJ-5507-01A-01D-1576-08		908175	180007085	12	2884											
PCDHB14	56122	broad.mit.edu	37	chr5	140604528	140604528	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cagagactcaggcaccaacgCccaggtcaactactcgctgc	11	5	9	16	2	2	1	2	0	0	1	3	2	2	1	2	2	4	2	2	2	3	1			TCGA-EJ-5507-01A-01D-1576-08	TCGA-EJ-5507-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5048e04-2519-42cc-8990-41612b2ad528	8285618d-a4b6-4641-b39e-18b2d8a40bcc	g.chr5:140604528C>A	ENST00000239449.4	+	1	1451	c.1451C>A	c.(1450-1452)gCc>gAc	p.A484D	PCDHB14_ENST00000515856.2_Missense_Mutation_p.A331D	NM_018934.2	NP_061757.1	Q9Y5E9	PCDBE_HUMAN	protocadherin beta 14	484	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.A484D(1)		NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(21)|ovary(2)|prostate(3)|skin(6)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGCACCAACGCCCAGGTCAAC	0.642																																					Ovarian(141;50 1831 27899 33809 37648)	ENST00000239449.4																			1	Substitution - Missense(1)	p.A484D(1)	prostate(1)	NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(21)|ovary(2)|prostate(3)|skin(6)|urinary_tract(1)	49						c.(1450-1452)gCc>gAc									102	109	106					5																	140604528		2203	4300	6503	SO:0001583	missense	0				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140604528C>A	AF152493	CCDS4256.1	5q31	2010-01-26			ENSG00000120327	ENSG00000120327		"Cadherins / Protocadherins : Clustered"	8685	other	protocadherin		606340				10380929	Standard	NM_018934		Approved	PCDH-BETA14	uc003ljb.3	Q9Y5E9	OTTHUMG00000129619	ENST00000239449.4:c.1451C>A	5.37:g.140604528C>A	ENSP00000239449:p.Ala484Asp					PCDHB14_ENST00000515856.2_Missense_Mutation_p.A331D	p.A484D	NM_018934.2	NP_061757.1	Q9Y5E9	PCDBE_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1451	+			484			Cadherin 5.		B4DPE2|Q4FZA4|Q4KN11	Missense_Mutation	SNP	ENST00000239449.4	37	c.1451C>A	CCDS4256.1	.	.	.	.	.	.	.	.	.	.	-	16.58	3.162558	0.57368	.	.	ENSG00000120327	ENST00000515856;ENST00000239449	T;T	0.54071	0.59;0.59	4.34	4.34	0.51931	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.77850	0.4192	M	0.93507	3.425	0.35858	D	0.827242	D	0.76494	0.999	D	0.73380	0.98	D	0.87170	0.2220	9	0.87932	D	0	.	13.2649	0.60128	0.0:0.788:0.212:0.0	.	484	Q9Y5E9	PCDBE_HUMAN	D	331;484	ENSP00000444518:A331D;ENSP00000239449:A484D	ENSP00000239449:A484D	A	+	2	0	PCDHB14	140584712	0.031000	0.19500	0.993000	0.49108	0.825000	0.46686	0.307000	0.19296	2.157000	0.67596	0.556000	0.70494	GCC		0.642	PCDHB14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251814.2	NM_018934		4	122	1	0	0.150653	0.150653	0.167709	4	122					A	140604528	C	A	140604528	3	1	56	1	0	0	0	0	1	0	0	0	11539	739	26	5	1453	5	PCDHB14	5	140604528	Missense_Mutation	SNP	C	TCGA-EJ-5507-01A-01D-1576-08	139696353	140604528	40310732	13	2885											
SKIV2L	6499	broad.mit.edu	37	chr6	31930258	31930258	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaggccctgagcaaccagaaGttccgggacttccgaaacac	13	5	10	13	2	0	2	0	1	0	1	2	4	2	3	4	2	3	2	4	2	4	2			TCGA-EJ-5507-01A-01D-1576-08	TCGA-EJ-5507-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5048e04-2519-42cc-8990-41612b2ad528	8285618d-a4b6-4641-b39e-18b2d8a40bcc	g.chr6:31930258G>C	ENST00000375394.2	+	11	1220	c.1107G>C	c.(1105-1107)aaG>aaC	p.K369N	SKIV2L_ENST00000544581.1_Missense_Mutation_p.K176N	NM_006929.4	NP_008860.4	Q15477	SKIV2_HUMAN	superkiller viralicidic activity 2-like (S. cerevisiae)	369	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				ATP catabolic process (GO:0006200)	nucleus (GO:0005634)|Ski complex (GO:0055087)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|RNA binding (GO:0003723)	p.K369N(2)		breast(1)|central_nervous_system(1)|large_intestine(1)|ovary(1)	4						GCAACCAGAAGTTCCGGGACT	0.587																																						ENST00000375394.2																			2	Substitution - Missense(2)	p.K369N(2)	prostate(2)	breast(1)|central_nervous_system(1)|large_intestine(1)|ovary(1)	4						c.(1105-1107)aaG>aaC		superkiller viralicidic activity 2-like (S. cerevisiae)							80	73	75					6																	31930258		2203	4300	6503	SO:0001583	missense	6499					nucleus	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding	g.chr6:31930258G>C		CCDS4731.1	6p21	2010-02-17	2001-11-28		ENSG00000204351	ENSG00000204351			10898	protein-coding gene	gene with protein product		600478	"superkiller viralicidic activity 2 (S. cerevisiae homolog)-like"	SKIV2		7759100, 9799600	Standard	XM_006715168		Approved	HLP, DDX13, SKI2W, 170A	uc003nyn.1	Q15477	OTTHUMG00000031146	ENST00000375394.2:c.1107G>C	6.37:g.31930258G>C	ENSP00000364543:p.Lys369Asn					SKIV2L_ENST00000544581.1_Missense_Mutation_p.K176N	p.K369N	NM_006929.4	NP_008860.4	Q15477	SKIV2_HUMAN			11	1220	+			369			Helicase ATP-binding.		O15005|Q12902|Q15476|Q5ST66	Missense_Mutation	SNP	ENST00000375394.2	37	c.1107G>C	CCDS4731.1	.	.	.	.	.	.	.	.	.	.	G	24.1	4.493324	0.84962	.	.	ENSG00000204351	ENST00000375394;ENST00000433155;ENST00000544581	T;T	0.71103	-0.54;-0.54	5.49	4.62	0.57501	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.89553	0.6748	H	0.99909	4.93	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.92029	0.5632	10	0.87932	D	0	-28.6813	10.0964	0.42478	0.1617:0.0:0.8383:0.0	.	369	Q15477	SKIV2_HUMAN	N	369;211;176	ENSP00000364543:K369N;ENSP00000442645:K176N	ENSP00000364543:K369N	K	+	3	2	SKIV2L	32038237	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.110000	0.50352	1.328000	0.45358	0.655000	0.94253	AAG		0.587	SKIV2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076264.3			48	93	0	0	0	0.870114	0	48	93					C	31930258	G	C	31930258	3	2	56	1	0	0	0	0	1	0	0	0	14359	1020	36	5	1149	5	SKIV2L	6	31930258	Missense_Mutation	SNP	G	TCGA-EJ-5507-01A-01D-1576-08		31930258	139184809	14	2886											
PKHD1	5314	broad.mit.edu	37	chr6	51524058	51524058	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ctagtgcaagtcacagtaggGcaattgcgctttctttttgc	8	14	10	9	1	2	0	1	0	1	0	2	0	2	0	0	1	3	4	0	1	4	6	rs562381413		TCGA-EJ-5507-01A-01D-1576-08	TCGA-EJ-5507-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5048e04-2519-42cc-8990-41612b2ad528	8285618d-a4b6-4641-b39e-18b2d8a40bcc	g.chr6:51524058G>A	ENST00000371117.3	-	61	11141	c.10866C>T	c.(10864-10866)tgC>tgT	p.C3622C		NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	3622			C -> Y (in ARPKD). {ECO:0000269|PubMed:12846734}.		cellular calcium ion homeostasis (GO:0006874)|cilium assembly (GO:0042384)|homeostatic process (GO:0042592)|kidney development (GO:0001822)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular component movement (GO:0051271)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of cell proliferation (GO:0008284)|regulation of centrosome duplication (GO:0010824)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of TOR signaling (GO:0032006)|single organismal cell-cell adhesion (GO:0016337)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|primary cilium (GO:0072372)	receptor activity (GO:0004872)	p.C3622C(1)		NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					TCACAGTAGGGCAATTGCGCT	0.458																																						ENST00000371117.3																			1	Substitution - coding silent(1)	p.C3622C(1)	prostate(1)	NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304						c.(10864-10866)tgC>tgT		polycystic kidney and hepatic disease 1 (autosomal recessive)							128	128	128					6																	51524058		2203	4300	6503	SO:0001819	synonymous_variant	5314				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity	g.chr6:51524058G>A	AF480064	CCDS4935.1, CCDS4936.1	6p21.2-p12	2012-11-26	2003-04-16		ENSG00000170927	ENSG00000170927			9016	protein-coding gene	gene with protein product	"tigmin", "polyductin", "fibrocystin"	606702	"TIG multiple domains 1"	TIGM1		9503014	Standard	NM_138694		Approved	ARPKD, FCYT	uc003pah.1	P08F94	OTTHUMG00000014841	ENST00000371117.3:c.10866C>T	6.37:g.51524058G>A							p.C3622C	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN			61	11141	-	Lung NSC(77;0.0605)		3622		C -> Y (in ARPKD).			Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Silent	SNP	ENST00000371117.3	37	c.10866C>T	CCDS4935.1																																																																																				0.458	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040893.1	NM_138694		62	151	0	0	0	0.870114	0	62	151					A	51524058	G	A	51524058	2	1	56	1	0	0	0	0	0	0	0	1	11971	1195	42	3		3	PKHD1	6	51524058	Silent	SNP	G	TCGA-EJ-5507-01A-01D-1576-08	19593800	51524058	119591009	15	2887											
REV3L	5980	broad.mit.edu	37	chr6	111726773	111726773	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgtaggaggtagggaatatgCgcttcatgaggctggtaaaa	12	10	15	4	1	1	1	1	1	0	0	1	3	1	3	0	5	1	5	0	5	6	5	rs201104590		TCGA-EJ-5507-01A-01D-1576-08	TCGA-EJ-5507-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5048e04-2519-42cc-8990-41612b2ad528	8285618d-a4b6-4641-b39e-18b2d8a40bcc	g.chr6:111726773C>T	ENST00000358835.3	-	5	919	c.465G>A	c.(463-465)gcG>gcA	p.A155A	REV3L_ENST00000435970.1_Silent_p.A77A|REV3L_ENST00000368802.3_Silent_p.A155A|REV3L_ENST00000368805.1_Silent_p.A155A			O60673	DPOLZ_HUMAN	REV3-like, polymerase (DNA directed), zeta, catalytic subunit	155					DNA-dependent DNA replication (GO:0006261)|translesion synthesis (GO:0019985)	chromosome (GO:0005694)|nucleus (GO:0005634)|zeta DNA polymerase complex (GO:0016035)	4 iron, 4 sulfur cluster binding (GO:0051539)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)	p.A77A(1)		NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		AGGGAATATGCGCTTCATGAG	0.338								DNA polymerases (catalytic subunits)					C|||	1	0.000199681	0	0	5008	,	,		12438	0		0.001	False		,,,				2504	0					ENST00000435970.1																			1	Substitution - coding silent(1)	p.A77A(1)	prostate(1)	NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88						c.(229-231)gcG>gcA	DNA polymerases (catalytic subunits)	REV3-like, polymerase (DNA directed), zeta, catalytic subunit							137	145	142					6																	111726773		2203	4300	6503	SO:0001819	synonymous_variant	5980				DNA-dependent DNA replication|translesion synthesis	nucleus|zeta DNA polymerase complex	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding	g.chr6:111726773C>T	AF058701	CCDS5091.2, CCDS69177.1	6q22	2012-05-18	2012-05-18		ENSG00000009413	ENSG00000009413		"DNA polymerases"	9968	protein-coding gene	gene with protein product	"polymerase, DNA, zeta"	602776	"REV3 (yeast homolog)-like, catalytic subunit of DNA polymerase zeta", "REV3-like, catalytic subunit of DNA polymerase zeta (yeast)"			9618506, 9925914	Standard	NM_001286431		Approved	POLZ, REV3	uc003puy.4	O60673	OTTHUMG00000016318	ENST00000358835.3:c.465G>A	6.37:g.111726773C>T						REV3L_ENST00000368802.3_Silent_p.A155A|REV3L_ENST00000358835.3_Silent_p.A155A|REV3L_ENST00000368805.1_Silent_p.A155A	p.A77A			O60673	DPOLZ_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)	6	1047	-		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)	155					O43214|Q5TC33	Silent	SNP	ENST00000358835.3	37	c.231G>A	CCDS5091.2																																																																																				0.338	REV3L-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043695.1	NM_002912		6	343	0	0	0	0.217242	0	6	343					T	111726773	C	T	111726773	2	4	56	1	0	0	0	0	0	0	0	1	13240	755	27	1		1	REV3L	6	111726773	Silent	SNP	C	TCGA-EJ-5507-01A-01D-1576-08	60202715	111726773	59388294	16	2888											
ENPP3	5169	broad.mit.edu	37	chr6	132061380	132061380	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	taagacatttagccaacactGatgttcccatcccaacacac	14	9	4	14	0	0	2	0	1	0	1	2	2	2	2	3	0	3	1	3	0	4	4			TCGA-EJ-5507-01A-01D-1576-08	TCGA-EJ-5507-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5048e04-2519-42cc-8990-41612b2ad528	8285618d-a4b6-4641-b39e-18b2d8a40bcc	g.chr6:132061380G>A	ENST00000414305.1	+	25	2645	c.2317G>A	c.(2317-2319)Gat>Aat	p.D773N	ENPP3_ENST00000357639.3_Missense_Mutation_p.D773N|ENPP3_ENST00000358229.5_3'UTR			O14638	ENPP3_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 3	773	Nuclease.				immune response (GO:0006955)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleoside triphosphate catabolic process (GO:0009143)|phosphate-containing compound metabolic process (GO:0006796)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|perinuclear region of cytoplasm (GO:0048471)	metal ion binding (GO:0046872)|NADH pyrophosphatase activity (GO:0035529)|nucleic acid binding (GO:0003676)|nucleoside-triphosphate diphosphatase activity (GO:0047429)|nucleotide diphosphatase activity (GO:0004551)|phosphodiesterase I activity (GO:0004528)|polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)	p.D773N(1)		NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0252)|OV - Ovarian serous cystadenocarcinoma(155;0.0511)		AGCCAACACTGATGTTCCCAT	0.388																																						ENST00000414305.1																			1	Substitution - Missense(1)	p.D773N(1)	prostate(1)	NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53						c.(2317-2319)Gat>Aat		ectonucleotide pyrophosphatase/phosphodiesterase 3							106	91	96					6																	132061380		2203	4300	6503	SO:0001583	missense	5169				immune response|nucleoside triphosphate catabolic process|phosphate metabolic process	extracellular region|integral to plasma membrane|perinuclear region of cytoplasm	metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity	g.chr6:132061380G>A	AF005632	CCDS5148.1	6q22	2010-06-23			ENSG00000154269	ENSG00000154269	3.1.4.1, 3.6.1.9	"CD molecules"	3358	protein-coding gene	gene with protein product		602182		PDNP3		9344668	Standard	NM_005021		Approved	PD-IBETA, gp130RB13-6, B10, CD203c	uc003qcv.3	O14638	OTTHUMG00000016292	ENST00000414305.1:c.2317G>A	6.37:g.132061380G>A	ENSP00000406261:p.Asp773Asn					ENPP3_ENST00000358229.5_3'UTR|ENPP3_ENST00000357639.3_Missense_Mutation_p.D773N	p.D773N			O14638	ENPP3_HUMAN		GBM - Glioblastoma multiforme(226;0.0252)|OV - Ovarian serous cystadenocarcinoma(155;0.0511)	25	2645	+	Breast(56;0.0753)		773			Nuclease.		Q5JTL3	Missense_Mutation	SNP	ENST00000414305.1	37	c.2317G>A	CCDS5148.1	.	.	.	.	.	.	.	.	.	.	G	9.166	1.020031	0.19433	.	.	ENSG00000154269	ENST00000414305;ENST00000357639	T;T	0.69306	-0.39;-0.39	5.23	-0.39	0.12450	DNA/RNA non-specific endonuclease (2);Extracellular Endonuclease, subunit A (2);	1.263030	0.04897	N	0.450624	T	0.33702	0.0872	L	0.38531	1.155	0.09310	N	1	B	0.02656	0.0	B	0.11329	0.006	T	0.27839	-1.0062	10	0.40728	T	0.16	-0.504	7.0918	0.25287	0.382:0.3525:0.2654:0.0	.	773	O14638	ENPP3_HUMAN	N	773	ENSP00000406261:D773N;ENSP00000350265:D773N	ENSP00000350265:D773N	D	+	1	0	ENPP3	132103073	0.000000	0.05858	0.001000	0.08648	0.003000	0.03518	-0.478000	0.06575	0.007000	0.14760	-0.302000	0.09304	GAT		0.388	ENPP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043627.2			3	125	0	0	0	0.115264	0	3	125					A	132061380	G	A	132061380	3	1	56	1	0	0	0	0	1	0	0	0	5131	1290	45	3	2411	3	ENPP3	6	132061380	Missense_Mutation	SNP	G	TCGA-EJ-5507-01A-01D-1576-08	20334607	132061380	39053687	17	2889											
SP4	6671	broad.mit.edu	37	chr7	21469876	21469876	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ccattgaagaatctcaaacaCctgctgctactgagtctgaa	13	10	7	11	0	2	4	1	3	2	1	3	4	2	4	2	0	4	2	2	0	5	2			TCGA-EJ-5507-01A-01D-1576-08	TCGA-EJ-5507-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5048e04-2519-42cc-8990-41612b2ad528	8285618d-a4b6-4641-b39e-18b2d8a40bcc	g.chr7:21469876C>G	ENST00000222584.3	+	3	1311	c.1093C>G	c.(1093-1095)Cct>Gct	p.P365A		NM_003112.3	NP_003103.2	Q02446	SP4_HUMAN	Sp4 transcription factor	365					regulation of heart contraction (GO:0008016)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)	p.P365A(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(11)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	35						ATCTCAAACACCTGCTGCTAC	0.468																																						ENST00000222584.3																			1	Substitution - Missense(1)	p.P365A(1)	prostate(1)	breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(11)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	35						c.(1093-1095)Cct>Gct		Sp4 transcription factor							90	78	82					7																	21469876		2203	4300	6503	SO:0001583	missense	6671				regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|transcription coactivator activity|zinc ion binding	g.chr7:21469876C>G		CCDS5373.1	7p15	2013-01-08			ENSG00000105866	ENSG00000105866		"Specificity protein transcription factors", "Zinc fingers, C2H2-type"	11209	protein-coding gene	gene with protein product		600540				1454515	Standard	XM_005249828		Approved	SPR-1, HF1B, MGC130008, MGC130009	uc003sva.3	Q02446	OTTHUMG00000094801	ENST00000222584.3:c.1093C>G	7.37:g.21469876C>G	ENSP00000222584:p.Pro365Ala						p.P365A	NM_003112.3	NP_003103.2	Q02446	SP4_HUMAN			3	1311	+			365					O60402|Q32M52	Missense_Mutation	SNP	ENST00000222584.3	37	c.1093C>G	CCDS5373.1	.	.	.	.	.	.	.	.	.	.	C	8.854	0.945285	0.18356	.	.	ENSG00000105866	ENST00000222584	T	0.08634	3.07	4.85	4.85	0.62838	.	0.000000	0.49916	D	0.000127	T	0.06096	0.0158	N	0.24115	0.695	0.44843	D	0.997856	B	0.24132	0.098	B	0.23419	0.046	T	0.34875	-0.9811	10	0.35671	T	0.21	.	8.9621	0.35854	0.0:0.9016:0.0:0.0984	.	365	Q02446	SP4_HUMAN	A	365	ENSP00000222584:P365A	ENSP00000222584:P365A	P	+	1	0	SP4	21436401	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.314000	0.43743	2.512000	0.84698	0.591000	0.81541	CCT		0.468	SP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211617.2	NM_003112		8	144	0	0	0	0.27861	0	8	144					G	21469876	C	G	21469876	3	3	56	1	0	0	0	0	1	0	0	0	14966	507	18	5	1103	5	SP4	7	21469876	Missense_Mutation	SNP	C	TCGA-EJ-5507-01A-01D-1576-08		21469876	137668787	18	2890											
GARS	2617	broad.mit.edu	37	chr7	30661990	30661992	+	In_Frame_Del	DEL	AAG	AAG	-																															gagcaattggtaaggcatatAagaaggatgcaaaactggtg																										TCGA-EJ-5507-01A-01D-1576-08	TCGA-EJ-5507-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5048e04-2519-42cc-8990-41612b2ad528	8285618d-a4b6-4641-b39e-18b2d8a40bcc	g.chr7:30661990_30661992delAAG	ENST00000389266.3	+	12	1766_1768	c.1525_1527delAAG	c.(1525-1527)aagdel	p.K510del		NM_002047.2	NP_002038.2	P41250	SYG_HUMAN	glycyl-tRNA synthetase	510					cell death (GO:0008219)|diadenosine tetraphosphate biosynthetic process (GO:0015966)|gene expression (GO:0010467)|glycyl-tRNA aminoacylation (GO:0006426)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|nucleus (GO:0005634)|secretory granule (GO:0030141)	ATP binding (GO:0005524)|glycine-tRNA ligase activity (GO:0004820)|protein dimerization activity (GO:0046983)			breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|skin(3)|urinary_tract(1)	24					Glycine(DB00145)	TAAGGCATATAAGAAGGATGCAA	0.404																																						ENST00000389266.3																			0				breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|skin(3)|urinary_tract(1)	24						c.(1525-1527)del		glycyl-tRNA synthetase	Glycine(DB00145)																																			SO:0001651	inframe_deletion	2617				cell death|diadenosine tetraphosphate biosynthetic process|glycyl-tRNA aminoacylation	cytosol|mitochondrial matrix|soluble fraction	ATP binding|glycine-tRNA ligase activity|protein dimerization activity	g.chr7:30661990_30661992delAAG	AK074524	CCDS43564.1	7p15	2014-09-17	2004-02-13		ENSG00000106105	ENSG00000106105	6.1.1.14	"Aminoacyl tRNA synthetases / Class II"	4162	protein-coding gene	gene with protein product	"glycine tRNA ligase"	600287	"Charcot-Marie-Tooth neuropathy 2D"	CMT2D		8595897, 8872480	Standard	NM_002047		Approved	GlyRS, DSMAV, SMAD1	uc003tbm.3	P41250	OTTHUMG00000152769	ENST00000389266.3:c.1525_1527delAAG	7.37:g.30661993_30661995delAAG	ENSP00000373918:p.Lys510del						p.K510del	NM_002047.2	NP_002038.2	P41250	SYG_HUMAN			12	1766_1768	+			510					B3KQA2|B4DIA0|Q969Y1	In_Frame_Del	DEL	ENST00000389266.3	37	c.1525_1527delAAG	CCDS43564.1																																																																																				0.404	GARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327735.1	NM_002047		8	322						8	322	---	---	---	---	-	30661992	AAG	-	30661990	7	5	56	1	0	1	0	1	0	0	0	0	6242	363	13	0	1571	0	GARS	7	30661990	In_Frame_Del	DEL	AAG	TCGA-EJ-5507-01A-01D-1576-08	9192114	30661990	128476673	19	2891											
GLI3	2737	broad.mit.edu	37	chr7	42262830	42262830	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	ttttcttttcagtggtcgtgGagctgtgggactgggcctcc	3	15	14	9	1	2	0	1	0	1	0	4	2	3	2	2	4	1	1	2	4	0	4			TCGA-EJ-5507-01A-01D-1576-08	TCGA-EJ-5507-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5048e04-2519-42cc-8990-41612b2ad528	8285618d-a4b6-4641-b39e-18b2d8a40bcc	g.chr7:42262830G>C	ENST00000395925.3	-	2	107	c.23C>G	c.(22-24)tCc>tGc	p.S8C	GLI3_ENST00000437480.1_Missense_Mutation_p.S8C	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN	GLI family zinc finger 3	8					anterior semicircular canal development (GO:0060873)|anterior/posterior pattern specification (GO:0009952)|artery development (GO:0060840)|axon guidance (GO:0007411)|branching involved in ureteric bud morphogenesis (GO:0001658)|camera-type eye morphogenesis (GO:0048593)|cell differentiation involved in kidney development (GO:0061005)|cerebral cortex radial glia guided migration (GO:0021801)|developmental growth (GO:0048589)|embryonic digestive tract development (GO:0048566)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic digit morphogenesis (GO:0042733)|embryonic skeletal system morphogenesis (GO:0048704)|forebrain dorsal/ventral pattern formation (GO:0021798)|forebrain radial glial cell differentiation (GO:0021861)|frontal suture morphogenesis (GO:0060364)|heart development (GO:0007507)|hindgut morphogenesis (GO:0007442)|hippocampus development (GO:0021766)|in utero embryonic development (GO:0001701)|lambdoid suture morphogenesis (GO:0060366)|lateral ganglionic eminence cell proliferation (GO:0022018)|lateral semicircular canal development (GO:0060875)|limb morphogenesis (GO:0035108)|lung development (GO:0030324)|mammary gland specification (GO:0060594)|melanocyte differentiation (GO:0030318)|metanephros development (GO:0001656)|negative regulation of alpha-beta T cell differentiation (GO:0046639)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative thymic T cell selection (GO:0045060)|nose morphogenesis (GO:0043585)|odontogenesis of dentin-containing tooth (GO:0042475)|oligodendrocyte differentiation (GO:0048709)|optic nerve morphogenesis (GO:0021631)|palate development (GO:0060021)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein processing (GO:0016485)|proximal/distal pattern formation (GO:0009954)|response to estrogen (GO:0043627)|sagittal suture morphogenesis (GO:0060367)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)|smoothened signaling pathway involved in spinal cord motor neuron cell fate specification (GO:0021776)|smoothened signaling pathway involved in ventral spinal cord interneuron specification (GO:0021775)|T cell differentiation in thymus (GO:0033077)|thymocyte apoptotic process (GO:0070242)|tongue development (GO:0043586)|transcription, DNA-templated (GO:0006351)|wound healing (GO:0042060)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|primary cilium (GO:0072372)|transcriptional repressor complex (GO:0017053)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|histone acetyltransferase binding (GO:0035035)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.S8C(2)		NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						AGTGGTCGTGGAGCTGTGGGA	0.453									Pallister-Hall syndrome;Greig Cephalopolysyndactyly																													ENST00000395925.3																			2	Substitution - Missense(2)	p.S8C(2)	prostate(2)	NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						c.(22-24)tCc>tGc		GLI family zinc finger 3							139	127	131					7																	42262830		2203	4300	6503	SO:0001583	missense	2737	Pallister-Hall syndrome;Greig Cephalopolysyndactyly	Familial Cancer Database	;	negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis	cilium|cytosol|nucleolus	beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr7:42262830G>C		CCDS5465.1	7p13	2013-01-25	2009-03-05		ENSG00000106571	ENSG00000106571		"Zinc fingers, C2H2-type"	4319	protein-coding gene	gene with protein product	"zinc finger protein GLI3", "oncogene GLI3", "DNA-binding protein"	165240	"Greig cephalopolysyndactyly syndrome", "GLI-Kruppel family member GLI3", "glioma-associated oncogene family zinc finger 3"	GCPS, PHS		2118997	Standard	NM_000168		Approved	PAP-A, PAPA, PAPA1, PAPB, ACLS, PPDIV	uc011kbh.2	P10071	OTTHUMG00000023630	ENST00000395925.3:c.23C>G	7.37:g.42262830G>C	ENSP00000379258:p.Ser8Cys					GLI3_ENST00000437480.1_Missense_Mutation_p.S8C	p.S8C	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN			2	107	-			8					A4D1W1|O75219|Q17RW4|Q75MT0|Q75MU9|Q9UDT5|Q9UJ39	Missense_Mutation	SNP	ENST00000395925.3	37	c.23C>G	CCDS5465.1	.	.	.	.	.	.	.	.	.	.	G	27.7	4.852520	0.91355	.	.	ENSG00000106571	ENST00000395925;ENST00000448703;ENST00000437480	T	0.19105	2.17	6.17	6.17	0.99709	.	0.241832	0.40469	N	0.001089	T	0.29945	0.0749	N	0.24115	0.695	0.58432	D	0.999999	D	0.62365	0.991	P	0.54401	0.751	T	0.01149	-1.1436	10	0.72032	D	0.01	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	8	P10071	GLI3_HUMAN	C	8	ENSP00000379258:S8C	ENSP00000379258:S8C	S	-	2	0	GLI3	42229355	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	6.270000	0.72563	2.941000	0.99782	0.655000	0.94253	TCC		0.453	GLI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250806.3	NM_000168		11	161	0	0	0	0.361761	0	11	161					C	42262830	G	C	42262830	3	2	56	1	0	0	0	0	1	0	0	0	6439	1174	41	5	4775	5	GLI3	7	42262830	Missense_Mutation	SNP	G	TCGA-EJ-5507-01A-01D-1576-08	11600840	42262830	116875833	20	2892											
PIK3CG	5294	broad.mit.edu	37	chr7	106509965	106509965	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaactggagagcttggaggaCgatgatgttctgcattacct	11	11	12	7	1	1	2	0	1	1	1	1	6	1	4	1	3	4	3	1	3	2	3			TCGA-EJ-5507-01A-01D-1576-08	TCGA-EJ-5507-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5048e04-2519-42cc-8990-41612b2ad528	8285618d-a4b6-4641-b39e-18b2d8a40bcc	g.chr7:106509965C>T	ENST00000359195.3	+	2	2269	c.1959C>T	c.(1957-1959)gaC>gaT	p.D653D	PIK3CG_ENST00000440650.2_Silent_p.D653D|PIK3CG_ENST00000496166.1_Silent_p.D653D	NM_001282427.1|NM_002649.2	NP_001269356.1|NP_002640.2	P48736	PK3CG_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma	653	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.				adaptive immune response (GO:0002250)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cytokine production (GO:0001816)|dendritic cell chemotaxis (GO:0002407)|endocytosis (GO:0006897)|G-protein coupled receptor signaling pathway (GO:0007186)|hepatocyte apoptotic process (GO:0097284)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|mast cell degranulation (GO:0043303)|natural killer cell chemotaxis (GO:0035747)|negative regulation of cardiac muscle contraction (GO:0055118)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of triglyceride catabolic process (GO:0010897)|neutrophil chemotaxis (GO:0030593)|neutrophil extravasation (GO:0072672)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of cell adhesion mediated by integrin (GO:0033628)|respiratory burst involved in defense response (GO:0002679)|secretory granule localization (GO:0032252)|small molecule metabolic process (GO:0044281)|T cell activation (GO:0042110)|T cell chemotaxis (GO:0010818)|T cell proliferation (GO:0042098)	1-phosphatidylinositol-4-phosphate 3-kinase, class IB complex (GO:0005944)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|mast cell granule (GO:0042629)|membrane (GO:0016020)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|ephrin receptor binding (GO:0046875)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.D653D(2)		breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						gcttggaggacgatgatgttc	0.443																																						ENST00000359195.3																			2	Substitution - coding silent(2)	p.D653D(2)	prostate(2)	breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						c.(1957-1959)gaC>gaT		phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma							28	26	27					7																	106509965		2202	4299	6501	SO:0001819	synonymous_variant	5294				G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding	g.chr7:106509965C>T		CCDS5739.1	7q22	2012-07-13	2012-07-13		ENSG00000105851	ENSG00000105851	2.7.1.153		8978	protein-coding gene	gene with protein product		601232	"phosphoinositide-3-kinase, catalytic, gamma polypeptide"				Standard	XM_005250443		Approved		uc003vdw.3	P48736	OTTHUMG00000157641	ENST00000359195.3:c.1959C>T	7.37:g.106509965C>T						PIK3CG_ENST00000440650.2_Silent_p.D653D|PIK3CG_ENST00000496166.1_Silent_p.D653D	p.D653D	NM_002649.2	NP_002640.2	P48736	PK3CG_HUMAN			2	2269	+			653					A4D0Q6|Q8IV23|Q9BZC8	Silent	SNP	ENST00000359195.3	37	c.1959C>T	CCDS5739.1																																																																																				0.443	PIK3CG-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349294.1			22	58	0	0	0	0.592651	0	22	58					T	106509965	C	T	106509965	2	4	56	1	0	0	0	0	0	0	0	1	11916	535	19	1		1	PIK3CG	7	106509965	Silent	SNP	C	TCGA-EJ-5507-01A-01D-1576-08	64247135	106509965	52628698	21	2893											
PTPRD	5789	broad.mit.edu	37	chr9	8449746	8449746	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggtgtttgaaagttaaggcGcctcagttctacagggtctg	8	12	13	8	2	3	1	1	1	2	0	3	1	3	1	1	3	1	3	1	3	3	4			TCGA-EJ-5507-01A-01D-1576-08	TCGA-EJ-5507-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5048e04-2519-42cc-8990-41612b2ad528	8285618d-a4b6-4641-b39e-18b2d8a40bcc	g.chr9:8449746G>A	ENST00000381196.4	-	31	4510	c.3967C>T	c.(3967-3969)Cgc>Tgc	p.R1323C	PTPRD_ENST00000397606.3_Missense_Mutation_p.R902C|PTPRD_ENST00000397611.3_Missense_Mutation_p.R913C|PTPRD_ENST00000397617.3_Missense_Mutation_p.R902C|PTPRD_ENST00000537002.1_Missense_Mutation_p.R913C|PTPRD_ENST00000358503.5_Missense_Mutation_p.R1301C|PTPRD_ENST00000355233.5_Missense_Mutation_p.R917C|PTPRD_ENST00000486161.1_Missense_Mutation_p.R916C|PTPRD_ENST00000360074.4_Missense_Mutation_p.R1310C|PTPRD_ENST00000540109.1_Missense_Mutation_p.R1323C|PTPRD_ENST00000356435.5_Missense_Mutation_p.R1323C	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	1323					heterophilic cell-cell adhesion (GO:0007157)|neuron differentiation (GO:0030182)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|positive regulation of dendrite morphogenesis (GO:0050775)|presynaptic membrane assembly (GO:0097105)|protein dephosphorylation (GO:0006470)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	cell adhesion molecule binding (GO:0050839)|receptor binding (GO:0005102)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.R794C(1)|p.R1323C(1)		NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		AAGTTAAGGCGCCTCAGTTCT	0.463										TSP Lung(15;0.13)																												ENST00000381196.4																			2	Substitution - Missense(2)	p.R794C(1)|p.R1323C(1)	prostate(2)	NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168						c.(3967-3969)Cgc>Tgc		protein tyrosine phosphatase, receptor type, D							352	317	329					9																	8449746		2203	4300	6503	SO:0001583	missense	5789				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr9:8449746G>A	X54133	CCDS6472.1, CCDS43786.1, CCDS6472.2, CCDS55288.1, CCDS55289.1, CCDS55290.1, CCDS75813.1	9p24.1-p23	2013-02-11			ENSG00000153707	ENSG00000153707		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	9668	protein-coding gene	gene with protein product		601598				7896816, 8355697	Standard	NM_002839		Approved	PTPD, HPTP	uc003zkk.3	P23468	OTTHUMG00000021005	ENST00000381196.4:c.3967C>T	9.37:g.8449746G>A	ENSP00000370593:p.Arg1323Cys	TSP Lung(15;0.13)				PTPRD_ENST00000540109.1_Missense_Mutation_p.R1323C|PTPRD_ENST00000360074.4_Missense_Mutation_p.R1310C|PTPRD_ENST00000537002.1_Missense_Mutation_p.R913C|PTPRD_ENST00000358503.5_Missense_Mutation_p.R1301C|PTPRD_ENST00000486161.1_Missense_Mutation_p.R916C|PTPRD_ENST00000356435.5_Missense_Mutation_p.R1323C|PTPRD_ENST00000397606.3_Missense_Mutation_p.R902C|PTPRD_ENST00000355233.5_Missense_Mutation_p.R917C|PTPRD_ENST00000397611.3_Missense_Mutation_p.R913C|PTPRD_ENST00000397617.3_Missense_Mutation_p.R902C	p.R1323C	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)	31	4510	-		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)	1323					B1ALA0|F5GWT7|Q3KPJ0|Q3KPJ1|Q3KPJ2	Missense_Mutation	SNP	ENST00000381196.4	37	c.3967C>T	CCDS43786.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.113135	0.77210	.	.	ENSG00000153707	ENST00000381196;ENST00000356435;ENST00000360074;ENST00000358503;ENST00000355233;ENST00000397617;ENST00000397611;ENST00000537002;ENST00000346816;ENST00000540109;ENST00000486161;ENST00000397606	T;T;T;T;T;T;T;T;T;T;T	0.57273	0.47;0.47;0.51;0.56;0.63;0.74;0.5;0.41;0.47;0.62;0.74	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	T	0.76449	0.3989	M	0.88979	2.995	0.80722	D	1	D;D;D;D;D;D;B;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;0.014;0.999;1.0	D;D;D;D;D;D;B;P;D	0.83275	0.973;0.973;0.973;0.973;0.996;0.988;0.004;0.794;0.953	T	0.79813	-0.1645	9	.	.	.	.	14.7505	0.69522	0.0:0.0:0.8554:0.1446	.	902;907;916;917;913;913;1310;1323;1323	Q3KPJ2;Q3KPI9;Q3KPJ0;Q3KPJ1;F5GWT7;F5GWY7;G3XAE2;Q2HXI4;P23468	.;.;.;.;.;.;.;.;PTPRD_HUMAN	C	1323;1323;1310;1301;917;902;913;913;794;1323;916;902	ENSP00000370593:R1323C;ENSP00000348812:R1323C;ENSP00000353187:R1310C;ENSP00000351293:R1301C;ENSP00000347373:R917C;ENSP00000380741:R902C;ENSP00000380735:R913C;ENSP00000440515:R913C;ENSP00000438164:R1323C;ENSP00000417093:R916C;ENSP00000380731:R902C	.	R	-	1	0	PTPRD	8439746	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.797000	0.69087	2.788000	0.95919	0.650000	0.86243	CGC		0.463	PTPRD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055395.3			7	291	0	0	0	0.248553	0	7	291					A	8449746	G	A	8449746	3	1	56	1	0	0	0	0	1	0	0	0	12799	1087	38	1	1869	1	PTPRD	9	8449746	Missense_Mutation	SNP	G	TCGA-EJ-5507-01A-01D-1576-08		8449746	132763685	22	2894											
SPAG8	4882	broad.mit.edu	37	chr9	35811495	35811495	+	IGR	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cagagccatgaccaggaccaGagccaggaccagagccagga	14	1	13	13	0	0	4	0	1	0	3	0	7	0	7	6	3	3	0	6	3	0	0	rs59748329|rs555852229|rs141090907	byFrequency	TCGA-EJ-5507-01A-01D-1576-08	TCGA-EJ-5507-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5048e04-2519-42cc-8990-41612b2ad528	8285618d-a4b6-4641-b39e-18b2d8a40bcc	g.chr9:35811495G>C	ENST00000342694.2	+	0	3686				SPAG8_ENST00000479751.1_5'Flank|SPAG8_ENST00000340291.2_Missense_Mutation_p.S183C|HINT2_ENST00000474908.1_5'Flank|SPAG8_ENST00000484764.1_Missense_Mutation_p.S181C|SPAG8_ENST00000396638.2_Missense_Mutation_p.S183C|TMEM8B_ENST00000377996.1_5'Flank|AL133410.1_ENST00000582432.1_RNA	NM_003995.3	NP_003986.2	P20594	ANPRB_HUMAN	natriuretic peptide receptor 2						bone development (GO:0060348)|cell surface receptor signaling pathway (GO:0007166)|cellular response to granulocyte macrophage colony-stimulating factor stimulus (GO:0097011)|cGMP biosynthetic process (GO:0006182)|intracellular signal transduction (GO:0035556)|negative regulation of meiotic cell cycle (GO:0051447)|negative regulation of oocyte maturation (GO:1900194)|ossification (GO:0001503)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of blood pressure (GO:0008217)|signal transduction (GO:0007165)|single organism reproductive process (GO:0044702)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|hormone binding (GO:0042562)|natriuretic peptide receptor activity (GO:0016941)|peptide hormone binding (GO:0017046)|protein kinase activity (GO:0004672)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)	p.S183C(2)|p.S183_G186delSGPG(1)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(2)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	45	all_epithelial(49;0.161)		LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194)		Erythrityl Tetranitrate(DB01613)|Nesiritide(DB04899)	accaggaccagagccaggacc	0.647																																						ENST00000340291.2																			3	Substitution - Missense(2)|Deletion - In frame(1)	p.S183C(2)|p.S183_G186delSGPG(1)	prostate(2)|upper_aerodigestive_tract(1)	NS(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(1)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						c.(547-549)tCt>tGt		sperm associated antigen 8																																				SO:0001628	intergenic_variant	26206					acrosomal vesicle|membrane		g.chr9:35811495G>C	AJ005282	CCDS6590.1	9p21-p12	2014-03-03	2014-03-03		ENSG00000159899	ENSG00000159899			7944	protein-coding gene	gene with protein product	"guanylate cyclase B"	108961	"acromesomelic dysplasia, Maroteaux type", "atrionatriuretic peptide receptor B", "natriuretic peptide receptor B"	ANPRB, NPRB, AMDM		9634515, 15146390	Standard	XM_005251478		Approved	GUCY2B, ANPb	uc003zyd.3	P20594	OTTHUMG00000019871		9.37:g.35811495G>C						SPAG8_ENST00000396638.2_Missense_Mutation_p.S183C|SPAG8_ENST00000484764.1_Missense_Mutation_p.S181C|AL133410.1_ENST00000582432.1_RNA	p.S183C	NM_172312.1	NP_758516.1	Q99932	SPAG8_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194)		2	672	-	all_epithelial(49;0.161)		183			Gly-rich.		B0ZBF2|B0ZBF3|D3DRP3|D3DRP4|O60871|Q4VAK7|Q5TCV2|Q8TA93|Q9UQ50	Missense_Mutation	SNP	ENST00000342694.2	37	c.548C>G	CCDS6590.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.60|13.60	2.284870|2.284870	0.40394|0.40394	.|.	.|.	ENSG00000137098|ENSG00000137098	ENST00000497810|ENST00000340291;ENST00000484764;ENST00000396638	.|T;T;T	.|0.55588	.|0.51;0.51;0.51	1.8|1.8	0.72|0.72	0.18214|0.18214	.|.	.|3.367080	.|0.01239	.|U	.|0.008570	T|T	0.37625|0.37625	0.1010|0.1010	N|N	0.08118|0.08118	0|0	0.09310|0.09310	N|N	1|1	.|D;D	.|0.61697	.|0.972;0.99	.|B;P	.|0.45310	.|0.341;0.476	T|T	0.32745|0.32745	-0.9895|-0.9895	5|10	.|0.54805	.|T	.|0.06	10.8687|10.8687	6.3247|6.3247	0.21237|0.21237	0.0:0.3152:0.6848:0.0|0.0:0.3152:0.6848:0.0	.|.	.|183;183	.|E9PDV6;Q99932-2	.|.;.	V|C	181|183;181;183	.|ENSP00000340982:S183C;ENSP00000418072:S181C;ENSP00000379878:S183C	.|ENSP00000340982:S183C	L|S	-|-	1|2	2|0	SPAG8|SPAG8	35801495|35801495	0.085000|0.085000	0.21516|0.21516	0.004000|0.004000	0.12327|0.12327	0.858000|0.858000	0.48976|0.48976	0.597000|0.597000	0.24059|0.24059	0.034000|0.034000	0.15491|0.15491	0.374000|0.374000	0.22700|0.22700	CTG|TCT		0.647	NPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052345.1			21	16	0	0	0	0.608945	0	21	16					C	35811495	G	C	35811495	1	2	56	0	1	0	0	0	0	0	0	0	14984	942	33	5		5	SPAG8	9	35811495	IGR	SNP	G	TCGA-EJ-5507-01A-01D-1576-08	27361749	35811495	105401936	23	2895											
FAM75A6	389730	broad.mit.edu	37	chr9	43626994	43626994	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gttaggagtggagacactaaAgacgtcctgagatttttgga	12	11	13	5	1	0	3	0	1	0	3	1	7	1	5	1	3	0	1	1	3	3	4			TCGA-EJ-5507-01A-01D-1576-08	TCGA-EJ-5507-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5048e04-2519-42cc-8990-41612b2ad528	8285618d-a4b6-4641-b39e-18b2d8a40bcc	g.chr9:43626994A>G	ENST00000332857.6	-	4	1721	c.1693T>C	c.(1693-1695)Ttt>Ctt	p.F565L	SPATA31A6_ENST00000496386.1_5'Flank	NM_001145196.1	NP_001138668.1	Q5VVP1	S31A6_HUMAN	SPATA31 subfamily A, member 6	565					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)		p.F565L(1)									GAGACACTAAAGACGTCCTGA	0.488																																						ENST00000332857.6																			1	Substitution - Missense(1)	p.F565L(1)	prostate(1)								c.(1693-1695)Ttt>Ctt		SPATA31 subfamily A, member 6							1	1	1					9																	43626994		222	770	992	SO:0001583	missense	389730							g.chr9:43626994A>G		CCDS75837.1	9p11.2	2012-10-15	2012-10-12	2012-10-12	ENSG00000185775	ENSG00000185775			32006	protein-coding gene	gene with protein product			"family with sequence similarity 75, member A6"	FAM75A6		20850414	Standard	NM_001145196		Approved	OTTHUMG00000013224	uc011lrb.2	Q5VVP1	OTTHUMG00000013224	ENST00000332857.6:c.1693T>C	9.37:g.43626994A>G	ENSP00000329825:p.Phe565Leu						p.F565L	NM_001145196.1	NP_001138668.1					4	1721	-									Missense_Mutation	SNP	ENST00000332857.6	37	c.1693T>C	CCDS47973.1	.	.	.	.	.	.	.	.	.	.	A	10.08	1.252441	0.22880	.	.	ENSG00000185775	ENST00000332857	T	0.10573	2.86	2.59	-0.05	0.13832	.	1.184600	0.06139	N	0.672114	T	0.09642	0.0237	L	0.53249	1.67	0.09310	N	1	B	0.18863	0.031	B	0.21917	0.037	T	0.43988	-0.9357	10	0.13470	T	0.59	-0.2954	2.3206	0.04209	0.6137:0.0:0.1461:0.2403	.	565	Q5VVP1	F75A6_HUMAN	L	565	ENSP00000329825:F565L	ENSP00000329825:F565L	F	-	1	0	FAM75A6	43566990	0.001000	0.12720	0.000000	0.03702	0.016000	0.09150	1.316000	0.33620	-0.003000	0.14444	0.315000	0.21342	TTT		0.488	SPATA31A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036987.1	NM_001145196		6	285	0	0	0	0.27861	0	6	285					G	43626994	A	G	43626994	3	3	56	1	0	0	0	0	1	0	0	0	5622	72	3	4	2342	4	FAM75A6	9	43626994	Missense_Mutation	SNP	A	TCGA-EJ-5507-01A-01D-1576-08	7815499	43626994	97586437	24	2896											
TRPM6	140803	broad.mit.edu	37	chr9	77448965	77448965	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgacaccccaaggagggatTccaactgtccagatttttct	11	11	8	11	0	1	2	0	1	1	1	3	4	3	4	4	2	1	0	4	2	2	3			TCGA-EJ-5507-01A-01D-1576-08	TCGA-EJ-5507-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5048e04-2519-42cc-8990-41612b2ad528	8285618d-a4b6-4641-b39e-18b2d8a40bcc	g.chr9:77448965T>C	ENST00000360774.1	-	6	855	c.618A>G	c.(616-618)ggA>ggG	p.G206G	TRPM6_ENST00000483186.1_5'UTR|TRPM6_ENST00000361255.3_Silent_p.G201G|TRPM6_ENST00000449912.2_Silent_p.G201G|TRPM6_ENST00000451710.3_Silent_p.G206G|TRPM6_ENST00000376871.3_Silent_p.G206G|TRPM6_ENST00000376864.4_Silent_p.G206G|TRPM6_ENST00000359047.2_Silent_p.G206G|TRPM6_ENST00000376872.3_Silent_p.G206G	NM_017662.4	NP_060132.3	Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	206					calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|response to toxic substance (GO:0009636)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium channel activity (GO:0005262)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)	p.G206G(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						AAGGAGGGATTCCAACTGTCC	0.418																																						ENST00000451710.3																			1	Substitution - coding silent(1)	p.G206G(1)	prostate(1)	NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						c.(616-618)ggA>ggG		transient receptor potential cation channel, subfamily M, member 6							150	139	143					9																	77448965		2203	4300	6503	SO:0001819	synonymous_variant	140803				response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr9:77448965T>C	AK026281	CCDS6647.1, CCDS55318.1, CCDS55319.1	9q21.13	2011-12-14	2003-12-02		ENSG00000119121	ENSG00000119121		"Voltage-gated ion channels / Transient receptor potential cation channels"	17995	protein-coding gene	gene with protein product		607009	"hypomagnesemia, secondary hypocalcemia"	HOMG, HSH		10021370, 12032570, 16382100	Standard	NM_017662		Approved	CHAK2, FLJ22628	uc004ajk.1	Q9BX84	OTTHUMG00000020027	ENST00000360774.1:c.618A>G	9.37:g.77448965T>C						TRPM6_ENST00000483186.1_5'UTR|TRPM6_ENST00000449912.2_Silent_p.G201G|TRPM6_ENST00000376864.4_Silent_p.G206G|TRPM6_ENST00000376871.3_Silent_p.G206G|TRPM6_ENST00000376872.3_Silent_p.G206G|TRPM6_ENST00000359047.2_Silent_p.G206G|TRPM6_ENST00000361255.3_Silent_p.G201G|TRPM6_ENST00000360774.1_Silent_p.G206G	p.G206G			Q9BX84	TRPM6_HUMAN			6	855	-			206					Q6VPR8|Q6VPR9|Q6VPS0|Q6VPS1|Q6VPS2	Silent	SNP	ENST00000360774.1	37	c.618A>G	CCDS6647.1																																																																																				0.418	TRPM6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000052693.1	NM_017662		60	122	0	0	0	0.870114	0	60	122					C	77448965	T	C	77448965	2	2	56	1	0	0	0	0	0	0	0	1	16587	1770	62	4		4	TRPM6	9	77448965	Silent	SNP	T	TCGA-EJ-5507-01A-01D-1576-08	33821971	77448965	63764466	25	2897											
SYK	6850	broad.mit.edu	37	chr9	93606305	93606305	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgatgggctttatttgctgcGccagagccgcaactacctgg	7	11	12	11	2	0	2	0	1	0	1	0	2	0	2	3	2	5	3	3	2	3	4			TCGA-EJ-5507-01A-01D-1576-08	TCGA-EJ-5507-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5048e04-2519-42cc-8990-41612b2ad528	8285618d-a4b6-4641-b39e-18b2d8a40bcc	g.chr9:93606305G>A	ENST00000375754.4	+	2	273	c.125G>A	c.(124-126)cGc>cAc	p.R42H	SYK_ENST00000375751.4_Missense_Mutation_p.R42H|SYK_ENST00000375746.1_Missense_Mutation_p.R42H|SYK_ENST00000476708.1_3'UTR|SYK_ENST00000375747.1_Missense_Mutation_p.R42H	NM_003177.5	NP_003168.2	P43405	KSYK_HUMAN	spleen tyrosine kinase	42	SH2 1. {ECO:0000255|PROSITE- ProRule:PRU00191}.				activation of JUN kinase activity (GO:0007257)|adaptive immune response (GO:0002250)|angiogenesis (GO:0001525)|B cell receptor signaling pathway (GO:0050853)|beta selection (GO:0043366)|blood coagulation (GO:0007596)|blood vessel morphogenesis (GO:0048514)|cell proliferation (GO:0008283)|cellular response to molecule of fungal origin (GO:0071226)|defense response to bacterium (GO:0042742)|enzyme linked receptor protein signaling pathway (GO:0007167)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|leukocyte activation involved in immune response (GO:0002366)|leukocyte cell-cell adhesion (GO:0007159)|leukotriene biosynthetic process (GO:0019370)|lymph vessel development (GO:0001945)|macrophage activation involved in immune response (GO:0002281)|neutrophil activation involved in immune response (GO:0002283)|neutrophil chemotaxis (GO:0030593)|organ morphogenesis (GO:0009887)|platelet activation (GO:0030168)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of alpha-beta T cell proliferation (GO:0046641)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of bone resorption (GO:0045780)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of gamma-delta T cell differentiation (GO:0045588)|positive regulation of granulocyte macrophage colony-stimulating factor biosynthetic process (GO:0045425)|positive regulation of interleukin-3 biosynthetic process (GO:0045401)|positive regulation of mast cell degranulation (GO:0043306)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of arachidonic acid secretion (GO:0090237)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of neutrophil degranulation (GO:0043313)|regulation of phagocytosis (GO:0050764)|regulation of platelet activation (GO:0010543)|regulation of platelet aggregation (GO:0090330)|regulation of superoxide anion generation (GO:0032928)|serotonin secretion by platelet (GO:0002554)|viral process (GO:0016032)	B cell receptor complex (GO:0019815)|cytosol (GO:0005829)|early phagosome (GO:0032009)|plasma membrane (GO:0005886)|T cell receptor complex (GO:0042101)	ATP binding (GO:0005524)|integrin binding (GO:0005178)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)	p.R42H(1)		breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(3)|skin(2)|stomach(2)	26						TATTTGCTGCGCCAGAGCCGC	0.617			T	"ETV6, ITK"	"MDS, peripheral T-cell lymphoma"																																	ENST00000375754.4				Dom	yes		9	9q22	6850	T	spleen tyrosine kinase			L	"ETV6, ITK"		"MDS, peripheral T-cell lymphoma"		1	Substitution - Missense(1)	p.R42H(1)	prostate(1)	breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(3)|skin(2)|stomach(2)	26						c.(124-126)cGc>cAc		spleen tyrosine kinase							61	41	48					9																	93606305		2203	4300	6503	SO:0001583	missense	6850				cell proliferation|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte cell-cell adhesion|neutrophil chemotaxis|organ morphogenesis|platelet activation|protein complex assembly	cytosol|T cell receptor complex	ATP binding|integrin binding|non-membrane spanning protein tyrosine kinase activity	g.chr9:93606305G>A	L28824	CCDS6688.1, CCDS47992.1	9q22	2013-02-14			ENSG00000165025	ENSG00000165025		"SH2 domain containing"	11491	protein-coding gene	gene with protein product		600085				8082894, 1423621	Standard	XM_005252147		Approved		uc004aqz.3	P43405	OTTHUMG00000020200	ENST00000375754.4:c.125G>A	9.37:g.93606305G>A	ENSP00000364907:p.Arg42His					SYK_ENST00000375746.1_Missense_Mutation_p.R42H|SYK_ENST00000375747.1_Missense_Mutation_p.R42H|SYK_ENST00000375751.4_Missense_Mutation_p.R42H|SYK_ENST00000476708.1_3'UTR	p.R42H	NM_003177.5	NP_003168.2	P43405	KSYK_HUMAN			2	273	+			42			SH2 1.			Missense_Mutation	SNP	ENST00000375754.4	37	c.125G>A	CCDS6688.1	.	.	.	.	.	.	.	.	.	.	G	34	5.392325	0.95988	.	.	ENSG00000165025	ENST00000375754;ENST00000375751;ENST00000375747;ENST00000375746	D;D;D;D	0.99292	-5.7;-5.7;-5.7;-5.7	5.16	5.16	0.70880	SH2 motif (4);	0.000000	0.85682	D	0.000000	D	0.99625	0.9863	H	0.95470	3.675	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;1.0	D	0.97820	1.0256	10	0.87932	D	0	.	18.8405	0.92182	0.0:0.0:1.0:0.0	.	42;42;42	P43405-2;P43405;C3W981	.;KSYK_HUMAN;.	H	42	ENSP00000364907:R42H;ENSP00000364904:R42H;ENSP00000364899:R42H;ENSP00000364898:R42H	ENSP00000364898:R42H	R	+	2	0	SYK	92646126	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.046000	0.93817	2.682000	0.91365	0.655000	0.94253	CGC		0.617	SYK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053018.1			6	13	0	0	0	0.217242	0	6	13					A	93606305	G	A	93606305	3	1	56	1	0	0	0	0	1	0	0	0	15435	1087	38	1	127	1	SYK	9	93606305	Missense_Mutation	SNP	G	TCGA-EJ-5507-01A-01D-1576-08	16157340	93606305	47607126	26	2898											
SOHLH1	402381	broad.mit.edu	37	chr9	138586195	138586195	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cagctcatatcaggtgcttaCgcggggggaccagccctgaa	9	7	13	12	2	2	1	2	1	0	0	2	2	2	2	2	4	4	2	2	4	3	2			TCGA-EJ-5507-01A-01D-1576-08	TCGA-EJ-5507-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5048e04-2519-42cc-8990-41612b2ad528	8285618d-a4b6-4641-b39e-18b2d8a40bcc	g.chr9:138586195C>T	ENST00000298466.5	-	7	1044	c.984G>A	c.(982-984)gcG>gcA	p.A328A	SOHLH1_ENST00000425225.1_Intron	NM_001012415.2	NP_001012415	Q5JUK2	SOLH1_HUMAN	spermatogenesis and oogenesis specific basic helix-loop-helix 1	328					oogenesis (GO:0048477)|ovarian follicle development (GO:0001541)|positive regulation of transcription, DNA-templated (GO:0045893)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.A328A(1)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(5)|prostate(1)	12		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;1.66e-07)|Epithelial(140;1.11e-06)|all cancers(34;6.45e-05)		CAGGTGCTTACGCGGGGGGAC	0.647																																						ENST00000298466.5																			1	Substitution - coding silent(1)	p.A328A(1)	prostate(1)	breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(5)|prostate(1)	12						c.(982-984)gcG>gcA		spermatogenesis and oogenesis specific basic helix-loop-helix 1							46	44	44					9																	138586195		2203	4299	6502	SO:0001819	synonymous_variant	402381				cell differentiation|multicellular organismal development|oogenesis|regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding	g.chr9:138586195C>T	BC031861	CCDS35174.1, CCDS48054.1	9q34.3	2013-05-21	2006-03-16	2006-03-16	ENSG00000165643	ENSG00000165643		"Basic helix-loop-helix proteins"	27845	protein-coding gene	gene with protein product	"spermatogenesis associated 27"	610224	"chromosome 9 open reading frame 157"	C9orf157		12477932	Standard	NM_001012415		Approved	NOHLH, TEB2, bA100C15.3, bHLHe80, SPATA27	uc010nbe.3	Q5JUK2	OTTHUMG00000020915	ENST00000298466.5:c.984G>A	9.37:g.138586195C>T						SOHLH1_ENST00000425225.1_Intron	p.A328A	NM_001012415.2	NP_001012415.2	Q5JUK2	SOLH1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.66e-07)|Epithelial(140;1.11e-06)|all cancers(34;6.45e-05)	7	1044	-		Myeloproliferative disorder(178;0.0511)	328					C9JG81|Q5EE14|Q5EGC2|Q8NEE3	Silent	SNP	ENST00000298466.5	37	c.984G>A	CCDS35174.1																																																																																				0.647	SOHLH1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000055018.2	NM_001012415		11	46	0	0	0	0.361761	0	11	46					T	138586195	C	T	138586195	2	4	56	1	0	0	0	0	0	0	0	1	14923	523	19	1		1	SOHLH1	9	138586195	Silent	SNP	C	TCGA-EJ-5507-01A-01D-1576-08	44979890	138586195	2627236	27	2899											
CARD9	64170	broad.mit.edu	37	chr9	139262118	139262118	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtctccagctgctgccgccTgagcctgccctccacggcca	4	7	10	20	3	1	1	0	1	1	0	3	1	2	1	7	1	5	2	7	1	0	0			TCGA-EJ-5507-01A-01D-1576-08	TCGA-EJ-5507-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5048e04-2519-42cc-8990-41612b2ad528	8285618d-a4b6-4641-b39e-18b2d8a40bcc	g.chr9:139262118T>C	ENST00000371732.5	-	8	1405	c.1240A>G	c.(1240-1242)Agg>Ggg	p.R414G	CARD9_ENST00000460290.1_5'Flank|CARD9_ENST00000371734.3_Missense_Mutation_p.R414G	NM_052813.4	NP_434700.2	Q9H257	CARD9_HUMAN	caspase recruitment domain family, member 9	414					defense response to Gram-positive bacterium (GO:0050830)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of JNK cascade (GO:0046330)|positive regulation of stress-activated MAPK cascade (GO:0032874)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of apoptotic process (GO:0042981)|regulation of interleukin-2 biosynthetic process (GO:0045076)|regulation of interleukin-6 biosynthetic process (GO:0045408)|regulation of tumor necrosis factor biosynthetic process (GO:0042534)|response to drug (GO:0042493)|response to exogenous dsRNA (GO:0043330)|response to fungus (GO:0009620)|response to muramyl dipeptide (GO:0032495)|response to peptidoglycan (GO:0032494)	cytoplasm (GO:0005737)	CARD domain binding (GO:0050700)|protein homodimerization activity (GO:0042803)	p.R414G(1)		endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|pancreas(1)|prostate(3)|skin(1)	15		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;4.58e-06)|Epithelial(140;5.65e-06)		TGCTGCCGCCTGAGCCTGCCC	0.721																																						ENST00000371732.5																			1	Substitution - Missense(1)	p.R414G(1)	prostate(1)	endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|pancreas(1)|prostate(3)|skin(1)	15						c.(1240-1242)Agg>Ggg		caspase recruitment domain family, member 9							25	24	24					9																	139262118		2185	4289	6474	SO:0001583	missense	64170				positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of JNK cascade|positive regulation of stress-activated MAPK cascade|regulation of apoptosis	cytoplasm	CARD domain binding|protein homodimerization activity	g.chr9:139262118T>C	AF311287	CCDS6997.1, CCDS48057.1	9q34	2014-09-17			ENSG00000187796	ENSG00000187796			16391	protein-coding gene	gene with protein product		607212				11053425	Standard	NM_052813		Approved		uc004chg.3	Q9H257	OTTHUMG00000020925	ENST00000371732.5:c.1240A>G	9.37:g.139262118T>C	ENSP00000360797:p.Arg414Gly					CARD9_ENST00000371734.3_Missense_Mutation_p.R414G	p.R414G	NM_052813.4	NP_434700.2	Q9H257	CARD9_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;4.58e-06)|Epithelial(140;5.65e-06)	8	1405	-		Myeloproliferative disorder(178;0.0511)	414					Q5SXM5|Q5SXM6|Q9H854	Missense_Mutation	SNP	ENST00000371732.5	37	c.1240A>G	CCDS6997.1	.	.	.	.	.	.	.	.	.	.	T	13.43	2.233504	0.39498	.	.	ENSG00000187796	ENST00000371734;ENST00000371732	T;T	0.32988	1.43;1.43	3.76	2.57	0.30868	.	0.469100	0.19918	N	0.103152	T	0.22589	0.0545	L	0.38175	1.15	0.80722	D	1	B;B;B	0.33238	0.403;0.136;0.039	B;B;B	0.30782	0.12;0.053;0.024	T	0.05305	-1.0893	10	0.62326	D	0.03	-20.5954	9.5467	0.39284	0.0:0.0:0.1779:0.8221	.	310;414;414	B4DIK5;Q9H257-2;Q9H257	.;.;CARD9_HUMAN	G	414	ENSP00000360799:R414G;ENSP00000360797:R414G	ENSP00000360797:R414G	R	-	1	2	CARD9	138381939	0.998000	0.40836	0.992000	0.48379	0.620000	0.37586	2.082000	0.41605	0.591000	0.29711	0.482000	0.46254	AGG		0.721	CARD9-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055053.1	NM_052813		2	12	0	0	0	0.115264	0	2	12					C	139262118	T	C	139262118	3	2	56	1	0	0	0	0	1	0	0	0	2652	1579	55	4	447	4	CARD9	9	139262118	Missense_Mutation	SNP	T	TCGA-EJ-5507-01A-01D-1576-08	675923	139262118	1951313	28	2900											
OR4A16	81327	broad.mit.edu	37	chr11	55110960	55110960	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgctatttccttgtcagcttGcatgggtcagctcttcatag	6	15	9	11	1	4	0	3	0	1	0	5	0	5	0	1	1	3	4	1	1	2	6			TCGA-EJ-5507-01A-01D-1576-08	TCGA-EJ-5507-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5048e04-2519-42cc-8990-41612b2ad528	8285618d-a4b6-4641-b39e-18b2d8a40bcc	g.chr11:55110960G>T	ENST00000314721.2	+	1	334	c.284G>T	c.(283-285)tGc>tTc	p.C95F		NM_001005274.1	NP_001005274.1	Q8NH70	O4A16_HUMAN	olfactory receptor, family 4, subfamily A, member 16	95						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.C95F(1)		NS(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	51						TTGTCAGCTTGCATGGGTCAG	0.453																																						ENST00000314721.2																			1	Substitution - Missense(1)	p.C95F(1)	prostate(1)	NS(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	51						c.(283-285)tGc>tTc		olfactory receptor, family 4, subfamily A, member 16							209	192	198					11																	55110960		2201	4296	6497	SO:0001583	missense	81327				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55110960G>T	AB065519	CCDS31499.1	11q11	2012-08-09			ENSG00000181961	ENSG00000181961		"GPCR / Class A : Olfactory receptors"	15153	protein-coding gene	gene with protein product							Standard	NM_001005274		Approved	OR4A16Q	uc010rie.2	Q8NH70	OTTHUMG00000166710	ENST00000314721.2:c.284G>T	11.37:g.55110960G>T	ENSP00000325128:p.Cys95Phe						p.C95F	NM_001005274.1	NP_001005274.1	Q8NH70	O4A16_HUMAN			1	334	+			95					Q6IFL3	Missense_Mutation	SNP	ENST00000314721.2	37	c.284G>T	CCDS31499.1	.	.	.	.	.	.	.	.	.	.	g	6.000	0.368437	0.11352	.	.	ENSG00000181961	ENST00000314721	T	0.00547	6.66	2.57	2.57	0.30868	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.02230	0.0069	H	0.99058	4.415	0.34306	D	0.684902	P	0.34909	0.475	B	0.40375	0.327	T	0.00045	-1.2216	9	0.87932	D	0	.	10.8399	0.46708	0.0:0.0:1.0:0.0	.	95	Q8NH70	O4A16_HUMAN	F	95	ENSP00000325128:C95F	ENSP00000325128:C95F	C	+	2	0	OR4A16	54867536	1.000000	0.71417	0.049000	0.19019	0.056000	0.15407	7.945000	0.87732	1.445000	0.47624	0.423000	0.28283	TGC		0.453	OR4A16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391160.1	NM_001005274		10	551	1	0	2.17888e-05	0.335167	2.52066e-05	10	551					T	55110960	G	T	55110960	3	4	56	1	0	0	0	0	1	0	0	0	11041	1319	46	5	286	5	OR4A16	11	55110960	Missense_Mutation	SNP	G	TCGA-EJ-5507-01A-01D-1576-08		55110960	79895556	29	2901											
OR5W2	390148	broad.mit.edu	37	chr11	55681278	55681278	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agaataggaagaacttggccGgaaatacataaagagcagag	19	5	12	5	1	0	4	0	0	0	4	0	6	0	6	1	3	3	1	1	3	8	4			TCGA-EJ-5507-01A-01D-1576-08	TCGA-EJ-5507-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5048e04-2519-42cc-8990-41612b2ad528	8285618d-a4b6-4641-b39e-18b2d8a40bcc	g.chr11:55681278G>A	ENST00000344514.1	-	1	780	c.781C>T	c.(781-783)Cgg>Tgg	p.R261W		NM_001001960.1	NP_001001960.1	Q8NH69	OR5W2_HUMAN	olfactory receptor, family 5, subfamily W, member 2	261						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R261W(2)		breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(28)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						GAACTTGGCCGGAAATACATA	0.443																																					Melanoma(48;171 1190 15239 43886 49348)	ENST00000344514.1																			2	Substitution - Missense(2)	p.R261W(2)	ovary(1)|prostate(1)	breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(28)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						c.(781-783)Cgg>Tgg		olfactory receptor, family 5, subfamily W, member 2							80	92	88					11																	55681278		2201	4296	6497	SO:0001583	missense	390148				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55681278G>A	BK004398	CCDS31513.1	11q11	2012-08-09		2004-03-10	ENSG00000187612	ENSG00000187612		"GPCR / Class A : Olfactory receptors"	15299	protein-coding gene	gene with protein product				OR5W2P, OR5W3P			Standard	NM_001001960		Approved		uc010rir.2	Q8NH69	OTTHUMG00000166818	ENST00000344514.1:c.781C>T	11.37:g.55681278G>A	ENSP00000342448:p.Arg261Trp						p.R261W	NM_001001960.1	NP_001001960.1	Q8NH69	OR5W2_HUMAN			1	780	-			261						Missense_Mutation	SNP	ENST00000344514.1	37	c.781C>T	CCDS31513.1	.	.	.	.	.	.	.	.	.	.	G	16.37	3.104592	0.56291	.	.	ENSG00000187612	ENST00000344514	T	0.37915	1.17	5.01	-7.18	0.01505	GPCR, rhodopsin-like superfamily (1);	0.000000	0.36167	N	0.002753	T	0.34337	0.0894	M	0.83852	2.665	0.09310	N	1	P	0.43024	0.798	P	0.44990	0.466	T	0.17745	-1.0359	10	0.72032	D	0.01	.	3.6052	0.08039	0.1349:0.0833:0.2308:0.5509	.	261	Q8NH69	OR5W2_HUMAN	W	261	ENSP00000342448:R261W	ENSP00000342448:R261W	R	-	1	2	OR5W2	55437854	0.000000	0.05858	0.028000	0.17463	0.903000	0.53119	-1.242000	0.02908	-1.391000	0.02085	0.549000	0.68633	CGG		0.443	OR5W2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391523.1	NM_001001960		50	93	0	0	0	0.870114	0	50	93					A	55681278	G	A	55681278	3	1	56	1	0	0	0	0	1	0	0	0	11185	1115	39	2	153	2	OR5W2	11	55681278	Missense_Mutation	SNP	G	TCGA-EJ-5507-01A-01D-1576-08	570318	55681278	79325238	30	2902											
OR9Q2	219957	broad.mit.edu	37	chr11	57957991	57957991	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaggaattacaccgtagtgaCggagttcttccttactgcat	11	12	9	9	2	1	1	0	1	1	0	2	3	2	3	2	2	3	3	2	2	5	5			TCGA-EJ-5507-01A-01D-1576-08	TCGA-EJ-5507-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5048e04-2519-42cc-8990-41612b2ad528	8285618d-a4b6-4641-b39e-18b2d8a40bcc	g.chr11:57957991C>T	ENST00000311591.3	+	1	86	c.29C>T	c.(28-30)aCg>aTg	p.T10M		NM_001005283.2	NP_001005283.1	Q8NGE9	OR9Q2_HUMAN	olfactory receptor, family 9, subfamily Q, member 2	10						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.T10M(1)		breast(2)|central_nervous_system(2)|endometrium(1)|large_intestine(3)|lung(24)|ovary(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	41		Breast(21;0.0589)				ACCGTAGTGACGGAGTTCTTC	0.463																																						ENST00000311591.3																			1	Substitution - Missense(1)	p.T10M(1)	prostate(1)	breast(2)|central_nervous_system(2)|endometrium(1)|large_intestine(3)|lung(24)|ovary(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	41						c.(28-30)aCg>aTg		olfactory receptor, family 9, subfamily Q, member 2							117	109	111					11																	57957991		2201	4296	6497	SO:0001583	missense	219957				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:57957991C>T	AB065859	CCDS31544.1	11q12.1	2012-08-09		2004-03-10	ENSG00000186513	ENSG00000186513		"GPCR / Class A : Olfactory receptors"	15328	protein-coding gene	gene with protein product				OR9Q2P			Standard	NM_001005283		Approved		uc010rka.2	Q8NGE9	OTTHUMG00000167414	ENST00000311591.3:c.29C>T	11.37:g.57957991C>T	ENSP00000308714:p.Thr10Met						p.T10M	NM_001005283.2	NP_001005283.1	Q8NGE9	OR9Q2_HUMAN			1	86	+		Breast(21;0.0589)	10						Missense_Mutation	SNP	ENST00000311591.3	37	c.29C>T	CCDS31544.1	.	.	.	.	.	.	.	.	.	.	C	10.01	1.233941	0.22626	.	.	ENSG00000186513	ENST00000311591	T	0.02216	4.39	5.43	4.51	0.55191	.	0.312029	0.23556	N	0.046917	T	0.03695	0.0105	M	0.72118	2.19	0.29134	N	0.879461	B	0.33073	0.396	B	0.21917	0.037	T	0.06110	-1.0845	10	0.72032	D	0.01	-9.3117	12.7037	0.57049	0.0:0.9192:0.0:0.0808	.	10	Q8NGE9	OR9Q2_HUMAN	M	10	ENSP00000308714:T10M	ENSP00000308714:T10M	T	+	2	0	OR9Q2	57714567	0.000000	0.05858	0.964000	0.40570	0.240000	0.25518	0.013000	0.13310	2.708000	0.92522	0.655000	0.94253	ACG		0.463	OR9Q2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394540.1	NM_001005283		12	156	0	0	0	0.457914	0	12	156					T	57957991	C	T	57957991	3	4	56	1	0	0	0	0	1	0	0	0	11256	536	19	1	31	1	OR9Q2	11	57957991	Missense_Mutation	SNP	C	TCGA-EJ-5507-01A-01D-1576-08	2276713	57957991	77048525	31	2903											
SNX15	29907	broad.mit.edu	37	chr11	64802432	64802432	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cccagctcaaggagttcttcCgggtatgtgcaccttccacc	7	10	9	15	1	2	0	1	0	1	0	4	1	4	1	5	2	2	4	5	2	2	4			TCGA-EJ-5507-01A-01D-1576-08	TCGA-EJ-5507-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5048e04-2519-42cc-8990-41612b2ad528	8285618d-a4b6-4641-b39e-18b2d8a40bcc	g.chr11:64802432C>T	ENST00000377244.3	+	4	500	c.370C>T	c.(370-372)Cgg>Tgg	p.R124W	SNX15_ENST00000352068.5_Missense_Mutation_p.R124W|RP11-399J13.3_ENST00000301886.3_3'UTR	NM_013306.4|NM_147777.3	NP_037438.2|NP_680086.2	Q9NRS6	SNX15_HUMAN	sorting nexin 15	124	PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.				intracellular protein transport (GO:0006886)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleolus (GO:0005730)	phosphatidylinositol binding (GO:0035091)	p.R124W(1)		endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	14						GGAGTTCTTCCGGGTATGTGC	0.582																																					Esophageal Squamous(56;269 1304 3324 8253)	ENST00000377244.3																			1	Substitution - Missense(1)	p.R124W(1)	prostate(1)	endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	14						c.(370-372)Cgg>Tgg		sorting nexin 15							61	55	57					11																	64802432		2201	4297	6498	SO:0001583	missense	29907				cell communication|intracellular protein transport	cytoplasmic vesicle membrane|cytosol	phosphatidylinositol binding|protein transporter activity	g.chr11:64802432C>T	AF175267	CCDS8089.1, CCDS8090.1	11q12	2008-05-22			ENSG00000110025	ENSG00000110025		"Sorting nexins"	14978	protein-coding gene	gene with protein product		605964				11208079	Standard	NM_013306		Approved			Q9NRS6	OTTHUMG00000037387	ENST00000377244.3:c.370C>T	11.37:g.64802432C>T	ENSP00000366452:p.Arg124Trp					SNX15_ENST00000301886.3_3'UTR	p.R124W	NM_013306.4|NM_147777.3	NP_037438.2|NP_680086.2	Q9NRS6	SNX15_HUMAN			4	500	+			124			PX.		E5KQS6|Q9NRS5	Missense_Mutation	SNP	ENST00000377244.3	37	c.370C>T	CCDS8089.1	.	.	.	.	.	.	.	.	.	.	C	13.67	2.305362	0.40795	.	.	ENSG00000110025	ENST00000377244;ENST00000534637;ENST00000524831;ENST00000352068	T;T;T;T	0.36340	1.26;1.26;1.26;1.26	5.38	1.36	0.22044	Phox homologous domain (4);	0.000000	0.85682	D	0.000000	T	0.42562	0.1208	L	0.42245	1.32	0.58432	D	0.999991	D;D;P	0.89917	1.0;1.0;0.5	D;D;B	0.74674	0.984;0.965;0.096	T	0.34601	-0.9822	10	0.87932	D	0	-0.4928	2.9514	0.05862	0.2469:0.4864:0.1188:0.1478	.	124;124;124	E5KQS5;E5KQS6;Q9NRS6	.;.;SNX15_HUMAN	W	124;120;112;124	ENSP00000366452:R124W;ENSP00000437277:R120W;ENSP00000431690:R112W;ENSP00000316410:R124W	ENSP00000316410:R124W	R	+	1	2	SNX15	64559008	1.000000	0.71417	0.998000	0.56505	0.404000	0.30871	2.352000	0.44080	0.008000	0.14787	-3.207000	0.00054	CGG		0.582	SNX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091004.3			27	65	0	0	0	0.693898	0	27	65					T	64802432	C	T	64802432	3	4	56	1	0	0	0	0	1	0	0	0	14886	643	23	2	384	2	SNX15	11	64802432	Missense_Mutation	SNP	C	TCGA-EJ-5507-01A-01D-1576-08	6844441	64802432	70204084	32	2904											
MYEOV	26579	broad.mit.edu	37	chr11	69063421	69063425	+	Frame_Shift_Del	DEL	CTTTA	CTTTA	-																															gttgctcacctgggagaagcCtttagagtgggcgttgagca																								rs527553012		TCGA-EJ-5507-01A-01D-1576-08	TCGA-EJ-5507-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5048e04-2519-42cc-8990-41612b2ad528	8285618d-a4b6-4641-b39e-18b2d8a40bcc	g.chr11:69063421_69063425delCTTTA	ENST00000308946.3	+	3	954_958	c.504_508delCTTTA	c.(502-510)gcctttagafs	p.FR169fs	MYEOV_ENST00000441339.2_Frame_Shift_Del_p.FR169fs|MYEOV_ENST00000535407.1_Frame_Shift_Del_p.FR111fs	NM_138768.2	NP_620123.2	Q96EZ4	MYEOV_HUMAN	myeloma overexpressed	169										endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(1)|lung(12)|prostate(2)|skin(1)|urinary_tract(1)	24	all_lung(4;2.21e-19)|Lung NSC(4;6.13e-19)|Melanoma(5;0.00128)		LUSC - Lung squamous cell carcinoma(11;3.33e-11)|STAD - Stomach adenocarcinoma(18;0.00654)|LUAD - Lung adenocarcinoma(13;0.0713)	Kidney(183;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(183;3.23e-08)|Lung(977;0.00361)|LUSC - Lung squamous cell carcinoma(976;0.0153)		TGGGAGAAGCCTTTAGAGTGGGCGT	0.585																																						ENST00000535407.1																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(1)|lung(12)|prostate(2)|skin(1)|urinary_tract(1)	24						c.(328-336)gcgafs		myeloma overexpressed																																				SO:0001589	frameshift_variant	26579							g.chr11:69063421_69063425delCTTTA	AJ223366	CCDS8190.1, CCDS73340.1	11q13.2	2013-03-27	2013-03-27			ENSG00000172927			7563	protein-coding gene	gene with protein product		605625	"myeloma overexpressed (in a subset of t(11;14) positive multiple myelomas)"			10753852	Standard	XM_005273908		Approved	OCIM	uc001oov.3	Q96EZ4		ENST00000308946.3:c.504_508delCTTTA	11.37:g.69063421_69063425delCTTTA	ENSP00000308330:p.Phe169fs					MYEOV_ENST00000308946.3_Frame_Shift_Del_p.AFR168fs|MYEOV_ENST00000441339.2_Frame_Shift_Del_p.AFR168fs	p.AFR110fs			Q96EZ4	MYEOV_HUMAN	LUSC - Lung squamous cell carcinoma(11;3.33e-11)|STAD - Stomach adenocarcinoma(18;0.00654)|LUAD - Lung adenocarcinoma(13;0.0713)	Kidney(183;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(183;3.23e-08)|Lung(977;0.00361)|LUSC - Lung squamous cell carcinoma(976;0.0153)	2	973_977	+	all_lung(4;2.21e-19)|Lung NSC(4;6.13e-19)|Melanoma(5;0.00128)		168					Q9UGN6|Q9UGN7	Frame_Shift_Del	DEL	ENST00000308946.3	37	c.330_334delCTTTA	CCDS8190.1																																																																																				0.585	MYEOV-004	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396548.1			90	356						90	356	---	---	---	---	-	69063425	CTTTA	-	69063421	7	5	56	1	0	1	0	1	0	0	0	0	10025	668	24	0	510	0	MYEOV	11	69063421	Frame_Shift_Del	DEL	CTTTA	TCGA-EJ-5507-01A-01D-1576-08	4260989	69063421	65943095	33	2905											
ATM	472	broad.mit.edu	37	chr11	108235812	108235812	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atgttctctctgtttaggtcCttctatatgatccactcttt	6	20	5	10	0	4	1	0	1	4	0	7	1	6	1	2	1	0	2	2	1	3	7			TCGA-EJ-5507-01A-01D-1576-08	TCGA-EJ-5507-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5048e04-2519-42cc-8990-41612b2ad528	8285618d-a4b6-4641-b39e-18b2d8a40bcc	g.chr11:108235812C>T	ENST00000452508.2	+	63	9043	c.8854C>T	c.(8854-8856)Ctt>Ttt	p.L2952F	C11orf65_ENST00000526725.1_Intron|C11orf65_ENST00000525729.1_Intron|ATM_ENST00000278616.4_Missense_Mutation_p.L2952F|ATM_ENST00000525178.1_3'UTR			Q13315	ATM_HUMAN	ATM serine/threonine kinase	2952	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.				brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|DNA damage induced protein phosphorylation (GO:0006975)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|heart development (GO:0007507)|histone mRNA catabolic process (GO:0071044)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|lipoprotein catabolic process (GO:0042159)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of B cell proliferation (GO:0030889)|neuron apoptotic process (GO:0051402)|oocyte development (GO:0048599)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of neuron apoptotic process (GO:0043525)|pre-B cell allelic exclusion (GO:0002331)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reciprocal meiotic recombination (GO:0007131)|replicative senescence (GO:0090399)|response to hypoxia (GO:0001666)|response to ionizing radiation (GO:0010212)|signal transduction (GO:0007165)|signal transduction involved in mitotic G2 DNA damage checkpoint (GO:0072434)|somitogenesis (GO:0001756)|telomere maintenance (GO:0000723)	cytoplasmic vesicle (GO:0031410)|nucleoplasm (GO:0005654)|spindle (GO:0005819)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|histone serine kinase activity (GO:0035174)|protein complex binding (GO:0032403)|protein dimerization activity (GO:0046983)|protein N-terminus binding (GO:0047485)|protein serine/threonine kinase activity (GO:0004674)	p.L2952F(2)		NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	Caffeine(DB00201)	TGTTTAGGTCCTTCTATATGA	0.368			"D, Mis, N, F, S"		T-PLL	"leukemia, lymphoma, medulloblastoma, glioma"		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)																												ENST00000278616.4			yes	Rec	yes	Ataxia-telangiectasia	11	11q22.3	472	"D, Mis, N, F, S"	ataxia telangiectasia mutated			"L, O"		"leukemia, lymphoma, medulloblastoma, glioma"	T-PLL		2	Substitution - Missense(2)	p.L2952F(2)	prostate(2)	NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448						c.(8854-8856)Ctt>Ttt	Genes defective in diseases associated with sensitivity to DNA damaging agents	ataxia telangiectasia mutated							80	75	76					11																	108235812		2201	4298	6499	SO:0001583	missense	472	Ataxia Telangiectasia	Familial Cancer Database	AT, Louis-Bar syndrome	cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding	g.chr11:108235812C>T	AB209133	CCDS31669.1	11q22-q23	2014-09-17	2014-06-17		ENSG00000149311	ENSG00000149311			795	protein-coding gene	gene with protein product	"TEL1, telomere maintenance 1, homolog (S. cerevisiae)"	607585	"ataxia telangiectasia mutated (includes complementation groups A, C and D)", "ataxia telangiectasia mutated"	ATA, ATDC, ATC, ATD			Standard	XM_005271561		Approved	TEL1, TELO1	uc001pkb.1	Q13315	OTTHUMG00000166480	ENST00000452508.2:c.8854C>T	11.37:g.108235812C>T	ENSP00000388058:p.Leu2952Phe	TSP Lung(14;0.12)				C11orf65_ENST00000526725.1_Intron|ATM_ENST00000525178.1_3'UTR|ATM_ENST00000452508.2_Missense_Mutation_p.L2952F|C11orf65_ENST00000525729.1_Intron	p.L2952F	NM_000051.3	NP_000042.3	Q13315	ATM_HUMAN		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	62	9239	+		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)	2952			PI3K/PI4K.		B2RNX5|O15429|Q12758|Q16551|Q93007|Q9NP02|Q9UCX7	Missense_Mutation	SNP	ENST00000452508.2	37	c.8854C>T	CCDS31669.1	.	.	.	.	.	.	.	.	.	.	C	19.39	3.817695	0.71028	.	.	ENSG00000149311	ENST00000278616;ENST00000452508	T;T	0.80033	-1.33;-1.33	5.51	5.51	0.81932	Protein kinase-like domain (1);Armadillo-type fold (1);Phosphatidylinositol 3-/4-kinase, catalytic (4);	0.000000	0.85682	D	0.000000	T	0.75953	0.3920	N	0.04090	-0.28	0.80722	D	1	D	0.76494	0.999	D	0.65573	0.936	T	0.78250	-0.2277	10	0.38643	T	0.18	.	12.7706	0.57419	0.0:0.9252:0.0:0.0748	.	2952	Q13315	ATM_HUMAN	F	2952	ENSP00000278616:L2952F;ENSP00000388058:L2952F	ENSP00000278616:L2952F	L	+	1	0	ATM	107741022	1.000000	0.71417	0.964000	0.40570	0.764000	0.43329	3.196000	0.51020	2.605000	0.88082	0.650000	0.86243	CTT		0.368	ATM-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389938.1	NM_000051		4	102	0	0	0	0.184627	0	4	102					T	108235812	C	T	108235812	3	4	56	1	0	0	0	0	1	0	0	0	1109	681	24	3	9096	3	ATM	11	108235812	Missense_Mutation	SNP	C	TCGA-EJ-5507-01A-01D-1576-08	39172391	108235812	26770704	34	2906											
USP15	9958	broad.mit.edu	37	chr12	62688039	62688039	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gggacaaataccagatgggaGatcaaaatgtgtatcctgga	15	8	12	6	0	1	2	1	0	0	2	2	5	2	4	2	3	1	1	2	3	5	2			TCGA-EJ-5507-01A-01D-1576-08	TCGA-EJ-5507-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5048e04-2519-42cc-8990-41612b2ad528	8285618d-a4b6-4641-b39e-18b2d8a40bcc	g.chr12:62688039G>A	ENST00000280377.5	+	2	227	c.169G>A	c.(169-171)Gat>Aat	p.D57N	USP15_ENST00000393654.3_Missense_Mutation_p.D57N|USP15_ENST00000353364.3_Missense_Mutation_p.D57N|USP15_ENST00000312635.6_Missense_Mutation_p.D57N|USP15_ENST00000550632.1_3'UTR	NM_001252078.1	NP_001239007.1	Q9Y4E8	UBP15_HUMAN	ubiquitin specific peptidase 15	57	DUSP. {ECO:0000255|PROSITE- ProRule:PRU00613}.				BMP signaling pathway (GO:0030509)|monoubiquitinated protein deubiquitination (GO:0035520)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|protein deubiquitination (GO:0016579)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|identical protein binding (GO:0042802)|SMAD binding (GO:0046332)|transforming growth factor beta receptor binding (GO:0005160)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)	p.D57N(2)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(15)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	37			GBM - Glioblastoma multiforme(1;0.000276)	GBM - Glioblastoma multiforme(28;0.0622)		CCAGATGGGAGATCAAAATGT	0.353																																					Melanoma(181;615 2041 39364 49691 50001)	ENST00000280377.5																			2	Substitution - Missense(2)	p.D57N(2)	prostate(2)	breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(15)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	37						c.(169-171)Gat>Aat		ubiquitin specific peptidase 15							105	99	102					12																	62688039		2203	4300	6503	SO:0001583	missense	9958				protein deubiquitination|ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr12:62688039G>A	AB011101	CCDS8963.1, CCDS58250.1, CCDS58251.1	12q14	2006-07-18	2005-08-08					"Ubiquitin-specific peptidases"	12613	protein-coding gene	gene with protein product		604731	"ubiquitin specific protease 15"			12838346	Standard	NM_001252078		Approved	KIAA0529, UNPH4	uc001src.2	Q9Y4E8	OTTHUMG00000170186	ENST00000280377.5:c.169G>A	12.37:g.62688039G>A	ENSP00000280377:p.Asp57Asn					USP15_ENST00000393654.3_Missense_Mutation_p.D57N|USP15_ENST00000550632.1_3'UTR|USP15_ENST00000353364.3_Missense_Mutation_p.D57N|USP15_ENST00000312635.6_Missense_Mutation_p.D57N	p.D57N	NM_001252078.1	NP_001239007.1	Q9Y4E8	UBP15_HUMAN	GBM - Glioblastoma multiforme(1;0.000276)	GBM - Glioblastoma multiforme(28;0.0622)	2	227	+			57			DUSP.		Q08AL5|Q9H8G9|Q9HCA6|Q9UNP0|Q9Y5B5	Missense_Mutation	SNP	ENST00000280377.5	37	c.169G>A	CCDS58251.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.172860	0.78452	.	.	ENSG00000135655	ENST00000353364;ENST00000549523;ENST00000280377;ENST00000312635;ENST00000393654;ENST00000548836	T;T;T	0.19669	2.15;2.13;2.15	6.17	6.17	0.99709	Peptidase C19, ubiquitin-specific peptidase, DUSP domain (3);	0.372347	0.31221	N	0.008035	T	0.21145	0.0509	N	0.14661	0.345	0.80722	D	1	B;B;P;P;B	0.41848	0.037;0.005;0.763;0.72;0.01	B;B;P;B;B	0.46299	0.056;0.022;0.511;0.377;0.012	T	0.01988	-1.1234	9	.	.	.	-14.013	20.8794	0.99867	0.0:0.0:1.0:0.0	.	57;57;57;57;57	B7Z3J0;B4DN46;Q9Y4E8;Q9Y4E8-2;Q9H8G9	.;.;UBP15_HUMAN;.;.	N	57;57;57;57;57;3	ENSP00000258123:D57N;ENSP00000280377:D57N;ENSP00000377264:D57N	.	D	+	1	0	USP15	60974306	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.941000	0.99782	0.655000	0.94253	GAT		0.353	USP15-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000407831.2	NM_006313		57	125	0	0	0	0.870114	0	57	125					A	62688039	G	A	62688039	3	1	56	1	0	0	0	0	1	0	0	0	17043	942	33	3	175	3	USP15	12	62688039	Missense_Mutation	SNP	G	TCGA-EJ-5507-01A-01D-1576-08		62688039	71163856	35	2907											
MYBPC1	4604	broad.mit.edu	37	chr12	102067275	102067275	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	taagaatcaaataaacattcGcaactctgagactgatacaa	19	9	5	8	1	2	3	1	2	1	2	3	4	2	3	0	0	3	1	0	0	8	4	rs151310085		TCGA-EJ-5507-01A-01D-1576-08	TCGA-EJ-5507-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5048e04-2519-42cc-8990-41612b2ad528	8285618d-a4b6-4641-b39e-18b2d8a40bcc	g.chr12:102067275G>A	ENST00000550270.1	+	24	2663	c.2663G>A	c.(2662-2664)cGc>cAc	p.R888H	MYBPC1_ENST00000550501.1_Intron|MYBPC1_ENST00000360610.2_Missense_Mutation_p.R888H|MYBPC1_ENST00000361685.2_Missense_Mutation_p.R895H|MYBPC1_ENST00000536007.1_Missense_Mutation_p.R851H|MYBPC1_ENST00000547405.1_Missense_Mutation_p.R844H|MYBPC1_ENST00000549145.1_Missense_Mutation_p.R901H|MYBPC1_ENST00000541119.1_Missense_Mutation_p.R858H|MYBPC1_ENST00000551300.1_Missense_Mutation_p.R771H|MYBPC1_ENST00000547509.1_Missense_Mutation_p.R856H|MYBPC1_ENST00000553190.1_Missense_Mutation_p.R870H|MYBPC1_ENST00000392934.3_Missense_Mutation_p.R857H|MYBPC1_ENST00000361466.2_Missense_Mutation_p.R895H|MYBPC1_ENST00000452455.2_Missense_Mutation_p.R888H|MYBPC1_ENST00000441232.1_Missense_Mutation_p.R888H|MYBPC1_ENST00000545503.2_Missense_Mutation_p.R870H			Q00872	MYPC1_HUMAN	myosin binding protein C, slow type	888	Ig-like C2-type 6.				cell adhesion (GO:0007155)|muscle filament sliding (GO:0030049)	cytosol (GO:0005829)|myofibril (GO:0030016)|myosin filament (GO:0032982)	structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)	p.R895H(1)|p.R888H(1)		breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	57						ATAAACATTCGCAACTCTGAG	0.383																																						ENST00000549145.1																			2	Substitution - Missense(2)	p.R895H(1)|p.R888H(1)	prostate(2)	breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	57						c.(2701-2703)cGc>cAc		myosin binding protein C, slow type		G	HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	139	149	145		2684,2684,2663,2609	5.8	1	12	dbSNP_134	145	0,8600		0,0,4300	no	missense,missense,missense,missense	MYBPC1	NM_002465.2,NM_206819.1,NM_206820.1,NM_206821.1	29,29,29,29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging	895/1172,895/1149,888/1142,870/1124	102067275	1,13005	2203	4300	6503	SO:0001583	missense	4604				cell adhesion|muscle filament sliding	cytosol|myofibril|myosin filament	actin binding|structural constituent of muscle|titin binding	g.chr12:102067275G>A		CCDS9083.1, CCDS9084.1, CCDS9085.1, CCDS55877.1, CCDS58268.1, CCDS58269.1, CCDS58270.1, CCDS58271.1, CCDS58272.1, CCDS58273.1	12q23.2	2013-02-11	2001-11-28		ENSG00000196091	ENSG00000196091		"Myosin binding proteins", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	7549	protein-coding gene	gene with protein product		160794	"myosin-binding protein C, slow-type"			8375400, 16918501	Standard	NM_002465		Approved		uc010svs.2	Q00872	OTTHUMG00000170274	ENST00000550270.1:c.2663G>A	12.37:g.102067275G>A	ENSP00000449702:p.Arg888His					MYBPC1_ENST00000452455.2_Missense_Mutation_p.R888H|MYBPC1_ENST00000553190.1_Missense_Mutation_p.R870H|MYBPC1_ENST00000441232.1_Missense_Mutation_p.R888H|MYBPC1_ENST00000551300.1_Missense_Mutation_p.R771H|MYBPC1_ENST00000550501.1_Intron|MYBPC1_ENST00000547405.1_Missense_Mutation_p.R844H|MYBPC1_ENST00000550270.1_Missense_Mutation_p.R888H|MYBPC1_ENST00000547509.1_Missense_Mutation_p.R856H|MYBPC1_ENST00000545503.2_Missense_Mutation_p.R870H|MYBPC1_ENST00000541119.1_Missense_Mutation_p.R858H|MYBPC1_ENST00000536007.1_Missense_Mutation_p.R851H|MYBPC1_ENST00000392934.3_Missense_Mutation_p.R857H|MYBPC1_ENST00000361685.2_Missense_Mutation_p.R895H|MYBPC1_ENST00000361466.2_Missense_Mutation_p.R895H|MYBPC1_ENST00000360610.2_Missense_Mutation_p.R888H	p.R901H			Q00872	MYPC1_HUMAN			25	2802	+			888			Ig-like C2-type 6.		B4DKR5|B7Z8G8|B7ZL02|B7ZL09|B7ZL10|E7ESM5|E7EWS6|G3XAE8|Q15497|Q17RR7|Q569K7|Q86T48|Q86TC8|Q8N3L2	Missense_Mutation	SNP	ENST00000550270.1	37	c.2702G>A	CCDS9085.1	.	.	.	.	.	.	.	.	.	.	G	33	5.262920	0.95399	2.27E-4	0.0	ENSG00000196091	ENST00000547405;ENST00000452455;ENST00000441232;ENST00000360610;ENST00000392934;ENST00000547509;ENST00000361685;ENST00000549145;ENST00000553190;ENST00000545503;ENST00000536007;ENST00000541119;ENST00000361466;ENST00000551300;ENST00000550270	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.67698	-0.28;-0.28;-0.28;-0.28;-0.28;-0.28;-0.28;-0.28;-0.28;-0.28;-0.28;-0.28;-0.28;-0.28;-0.28	5.75	5.75	0.90469	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.50627	D	0.000101	D	0.86977	0.6063	M	0.93062	3.375	0.80722	D	1	D;D;D;D;D;D;D;D;D;D	0.89917	0.999;1.0;0.988;1.0;0.999;1.0;0.998;0.999;0.964;0.996	D;D;P;D;D;D;D;D;P;D	0.91635	0.969;0.999;0.906;0.997;0.997;0.997;0.997;0.998;0.629;0.99	D	0.89325	0.3643	10	0.87932	D	0	.	19.9379	0.97147	0.0:0.0:1.0:0.0	.	851;858;888;870;857;844;870;888;895;895	B7ZL02;B7ZL10;E7EWS6;B7ZL09;E7ESM5;Q17RR7;Q00872-3;Q00872;G3XAE8;Q00872-2	.;.;.;.;.;.;.;MYPC1_HUMAN;.;.	H	844;888;888;888;857;856;895;901;870;870;851;858;895;771;888	ENSP00000448175:R844H;ENSP00000400908:R888H;ENSP00000388989:R888H;ENSP00000353822:R888H;ENSP00000376665:R857H;ENSP00000447362:R856H;ENSP00000354845:R895H;ENSP00000447660:R901H;ENSP00000447900:R870H;ENSP00000440034:R870H;ENSP00000446128:R851H;ENSP00000442847:R858H;ENSP00000354849:R895H;ENSP00000447116:R771H;ENSP00000449702:R888H	ENSP00000353822:R888H	R	+	2	0	MYBPC1	100591406	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.354000	0.97083	2.710000	0.92621	0.555000	0.69702	CGC		0.383	MYBPC1-024	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000408806.1			49	385	0	0	0	0.870114	0	49	385					A	102067275	G	A	102067275	3	1	56	1	0	0	0	0	1	0	0	0	10011	1087	38	1	2840	1	MYBPC1	12	102067275	Missense_Mutation	SNP	G	TCGA-EJ-5507-01A-01D-1576-08	39379236	102067275	31784620	36	2908											
KIAA1704	55425	broad.mit.edu	37	chr13	45594565	45594565	+	Splice_Site	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gcaggtatcttcatacaatgTaagtaagaaaataagatata	19	11	7	4	0	2	2	1	0	1	2	2	2	2	2	0	1	1	4	0	1	10	8			TCGA-EJ-5507-01A-01D-1576-08	TCGA-EJ-5507-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5048e04-2519-42cc-8990-41612b2ad528	8285618d-a4b6-4641-b39e-18b2d8a40bcc	g.chr13:45594565T>A	ENST00000379151.4	+	7	907		c.e7+2		GPALPP1_ENST00000357537.3_Splice_Site|GPALPP1_ENST00000361121.2_Splice_Site|RP11-321C24.1_ENST00000437748.2_lincRNA	NM_018559.2	NP_061029.2	Q8IXQ4	GPAM1_HUMAN	GPALPP motifs containing 1									p.?(1)									TCATACAATGTAAGTAAGAAA	0.418																																						ENST00000361121.2																			1	Unknown(1)	p.?(1)	prostate(1)	breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|pancreas(1)|prostate(2)|skin(1)	12						c.e7+2									68	71	70					13																	45594565		2203	4299	6502	SO:0001630	splice_region_variant	0							g.chr13:45594565T>A	AB051491	CCDS9394.1	13q14.12	2013-08-13	2013-08-12	2013-08-12	ENSG00000133114	ENSG00000133114			20298	protein-coding gene	gene with protein product			"KIAA1704"	KIAA1704		11214970	Standard	NM_018559		Approved	bA245H20.2, AD029, LSR7	uc001uzq.3	Q8IXQ4	OTTHUMG00000016841	ENST00000379151.4:c.804+2T>A	13.37:g.45594565T>A						KIAA1704_ENST00000379151.4_Splice_Site|KIAA1704_ENST00000357537.3_Splice_Site|RP11-321C24.1_ENST00000437748.2_lincRNA				Q8IXQ4	K1704_HUMAN	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000313)|BRCA - Breast invasive adenocarcinoma(63;0.126)	7	839	+		Lung NSC(96;0.00143)|Prostate(109;0.0137)|Breast(139;0.0192)|Lung SC(185;0.0367)|Hepatocellular(98;0.133)						A8K8X8|Q05BX8|Q05D87|Q5T3Z3|Q5T3Z5|Q9C0F9|Q9H2R0|Q9P0W6	Splice_Site	SNP	ENST00000379151.4	37		CCDS9394.1	.	.	.	.	.	.	.	.	.	.	T	18.82	3.705997	0.68615	.	.	ENSG00000133114	ENST00000379151;ENST00000361121;ENST00000357537	.	.	.	5.42	5.42	0.78866	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.9514	0.71077	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	KIAA1704	44492565	1.000000	0.71417	1.000000	0.80357	0.803000	0.45373	3.662000	0.54510	2.194000	0.70268	0.528000	0.53228	.		0.418	GPALPP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044749.2	NM_018559	Intron	5	91	0	0	0	0.184627	0	5	91					A	45594565	T	A	45594565	5	1	56	1	0	0	0	0	0	0	1	0	8252	1652	57	5	832	5	KIAA1704	13	45594565	Splice_Site	SNP	T	TCGA-EJ-5507-01A-01D-1576-08		45594565	69575313	37	2909											
KLC1	3831	broad.mit.edu	37	chr14	104124043	104124043	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgagcagtctgtggctcaacTggaggaggagaagaagcatc	12	7	15	7	0	2	3	1	1	1	2	3	6	2	5	0	4	3	3	0	4	3	0			TCGA-EJ-5507-01A-01D-1576-08	TCGA-EJ-5507-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5048e04-2519-42cc-8990-41612b2ad528	8285618d-a4b6-4641-b39e-18b2d8a40bcc	g.chr14:104124043T>C	ENST00000348520.6	+	3	741	c.422T>C	c.(421-423)cTg>cCg	p.L141P	KLC1_ENST00000557450.1_Missense_Mutation_p.L141P|KLC1_ENST00000445352.4_Missense_Mutation_p.L141P|KLC1_ENST00000246489.7_Missense_Mutation_p.L141P|KLC1_ENST00000334553.6_Missense_Mutation_p.L141P|KLC1_ENST00000347839.6_Missense_Mutation_p.L141P|RP11-73M18.2_ENST00000472726.2_Missense_Mutation_p.L313P|KLC1_ENST00000452929.2_Missense_Mutation_p.L141P|KLC1_ENST00000557575.1_Missense_Mutation_p.L141P|KLC1_ENST00000380038.3_Missense_Mutation_p.L141P|KLC1_ENST00000553286.1_Missense_Mutation_p.L141P|KLC1_ENST00000389744.4_Missense_Mutation_p.L141P|KLC1_ENST00000555836.1_Missense_Mutation_p.L141P|KLC1_ENST00000554280.1_Missense_Mutation_p.L141P	NM_182923.3	NP_891553.2	Q07866	KLC1_HUMAN	kinesin light chain 1	141					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|stress granule disassembly (GO:0035617)|viral process (GO:0016032)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|growth cone (GO:0030426)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)	microtubule motor activity (GO:0003777)|motor activity (GO:0003774)	p.L141P(1)	KLC1/ALK(2)	NS(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(2)|prostate(1)|urinary_tract(1)	12		Melanoma(154;0.155)|all_epithelial(191;0.19)				GTGGCTCAACTGGAGGAGGAG	0.502																																						ENST00000389744.4																		KLC1/ALK(2)	1	Substitution - Missense(1)	p.L141P(1)	prostate(1)	NS(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(2)|prostate(1)|urinary_tract(1)	12						c.(421-423)cTg>cCg		kinesin light chain 1							91	78	82					14																	104124043		2203	4300	6503	SO:0001583	missense	3831				blood coagulation|microtubule-based movement|stress granule disassembly	cytosol|kinesin complex|microtubule	microtubule motor activity|protein binding	g.chr14:104124043T>C	AF267530	CCDS32165.1, CCDS41996.1, CCDS45168.1	14q32.3	2013-01-10	2007-03-09	2007-03-09	ENSG00000126214	ENSG00000126214		"Tetratricopeptide (TTC) repeat domain containing"	6387	protein-coding gene	gene with protein product		600025	"kinesin 2 60/70kDa", "kinesin 2"	KNS2		8274221, 11106729	Standard	NM_005552		Approved	KNS2A, KLC, hKLC1S, hKLC1N, hKLC1P, hKLC1G, hKLC1R, hKLC1J, hKLC1B	uc010tyf.2	Q07866	OTTHUMG00000169227	ENST00000348520.6:c.422T>C	14.37:g.104124043T>C	ENSP00000341154:p.Leu141Pro					KLC1_ENST00000555836.1_Missense_Mutation_p.L141P|KLC1_ENST00000348520.6_Missense_Mutation_p.L141P|RP11-73M18.2_ENST00000472726.2_Missense_Mutation_p.L313P|KLC1_ENST00000557450.1_Missense_Mutation_p.L141P|KLC1_ENST00000347839.6_Missense_Mutation_p.L141P|KLC1_ENST00000553286.1_Missense_Mutation_p.L141P|KLC1_ENST00000554280.1_Missense_Mutation_p.L141P|KLC1_ENST00000557575.1_Missense_Mutation_p.L141P|KLC1_ENST00000246489.7_Missense_Mutation_p.L141P|KLC1_ENST00000334553.6_Missense_Mutation_p.L141P|KLC1_ENST00000445352.4_Missense_Mutation_p.L141P|KLC1_ENST00000452929.2_Missense_Mutation_p.L141P|KLC1_ENST00000380038.3_Missense_Mutation_p.L141P	p.L141P			Q07866	KLC1_HUMAN			3	691	+		Melanoma(154;0.155)|all_epithelial(191;0.19)	141					A6NF62|F8VTM4|Q7RTM2|Q7RTM3|Q7RTM5|Q7RTP9|Q7RTQ3|Q7RTQ5|Q7RTQ6|Q86SF5|Q86TF5|Q86V74|Q86V75|Q86V76|Q86V77|Q86V78|Q86V79|Q96H62	Missense_Mutation	SNP	ENST00000348520.6	37	c.422T>C	CCDS41996.1	.	.	.	.	.	.	.	.	.	.	T	27.1	4.796007	0.90453	.	.	ENSG00000126214;ENSG00000126214;ENSG00000126214;ENSG00000126214;ENSG00000126214;ENSG00000126214;ENSG00000126214;ENSG00000126214;ENSG00000126214;ENSG00000126214;ENSG00000126214;ENSG00000126214;ENSG00000126214;ENSG00000126214;ENSG00000126214;ENSG00000256500	ENST00000557172;ENST00000348520;ENST00000443396;ENST00000380038;ENST00000389744;ENST00000557575;ENST00000553286;ENST00000347839;ENST00000555836;ENST00000334553;ENST00000246489;ENST00000557450;ENST00000554280;ENST00000452929;ENST00000445352;ENST00000472726	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.73258	-0.73;-0.73;-0.73;-0.73;-0.73;-0.73;-0.73;-0.73;-0.73;-0.73;-0.73;-0.73;-0.73;-0.73;-0.73	5.49	5.49	0.81192	Rabaptin, GTPase-Rab5 binding (1);	0.000000	0.85682	D	0.000000	D	0.85115	0.5623	M	0.82517	2.595	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;0.999;1.0	D;D;D;D;D	0.91635	0.999;0.992;0.997;0.998;0.994	D	0.86944	0.2081	10	0.59425	D	0.04	-11.5944	15.8895	0.79286	0.0:0.0:0.0:1.0	.	141;141;313;141;141	F8VTM4;F8W6L3;E7EVH7;Q07866;G5E9S8	.;.;.;KLC1_HUMAN;.	P	141;141;141;141;141;141;141;141;141;141;141;141;141;141;141;313	ENSP00000450786:L141P;ENSP00000341154:L141P;ENSP00000369377:L141P;ENSP00000374394:L141P;ENSP00000450617:L141P;ENSP00000452487:L141P;ENSP00000334618:L141P;ENSP00000452481:L141P;ENSP00000334523:L141P;ENSP00000246489:L141P;ENSP00000450648:L141P;ENSP00000451242:L141P;ENSP00000414982:L141P;ENSP00000412693:L141P;ENSP00000439065:L313P	ENSP00000246489:L141P	L	+	2	0	KLC1;RP11-73M18.2	103193796	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.997000	0.88414	2.207000	0.71202	0.533000	0.62120	CTG		0.502	KLC1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402947.2	NM_005552		3	77	0	0	0	0.115264	0	3	77					C	104124043	T	C	104124043	3	2	56	1	0	0	0	0	1	0	0	0	8333	1580	55	4	428	4	KLC1	14	104124043	Missense_Mutation	SNP	T	TCGA-EJ-5507-01A-01D-1576-08		104124043	3225497	38	2910											
ZFHX3	463	broad.mit.edu	37	chr16	72827588	72827588	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tggacttcttttcttttgccCgggcattctggaaccagacc	6	14	9	12	1	3	1	0	0	3	1	3	3	3	3	3	3	2	1	3	3	1	6			TCGA-EJ-5507-01A-01D-1576-08	TCGA-EJ-5507-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5048e04-2519-42cc-8990-41612b2ad528	8285618d-a4b6-4641-b39e-18b2d8a40bcc	g.chr16:72827588C>T	ENST00000268489.5	-	9	9665	c.8993G>A	c.(8992-8994)cGg>cAg	p.R2998Q	RP5-991G20.4_ENST00000569195.1_RNA|ZFHX3_ENST00000397992.5_Missense_Mutation_p.R2084Q	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	2998					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|muscle organ development (GO:0007517)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of myoblast differentiation (GO:0045663)|regulation of neuron differentiation (GO:0045664)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	enzyme binding (GO:0019899)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.R2998Q(1)		NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				TTCTTTTGCCCGGGCATTCTG	0.463																																						ENST00000268489.5																			1	Substitution - Missense(1)	p.R2998Q(1)	prostate(1)	NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153						c.(8992-8994)cGg>cAg		zinc finger homeobox 3							146	140	142					16																	72827588		2198	4300	6498	SO:0001583	missense	463				muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr16:72827588C>T	D10250	CCDS10908.1, CCDS54035.1	16q22.3	2012-03-09	2007-08-09	2007-08-09	ENSG00000140836	ENSG00000140836		"Zinc fingers, C2H2-type", "Homeoboxes / ZF class"	777	protein-coding gene	gene with protein product		104155	"AT-binding transcription factor 1"	ATBF1		1719379, 7592926	Standard	NM_006885		Approved	ZNF927	uc002fck.3	Q15911	OTTHUMG00000137599	ENST00000268489.5:c.8993G>A	16.37:g.72827588C>T	ENSP00000268489:p.Arg2998Gln					ZFHX3_ENST00000397992.5_Missense_Mutation_p.R2084Q	p.R2998Q	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN			9	9665	-		Ovarian(137;0.13)	2998					D3DWS8|O15101|Q13719	Missense_Mutation	SNP	ENST00000268489.5	37	c.8993G>A	CCDS10908.1	.	.	.	.	.	.	.	.	.	.	C	14.79	2.641673	0.47153	.	.	ENSG00000140836	ENST00000268489;ENST00000397992	D;D	0.99143	-5.48;-5.48	6.17	6.17	0.99709	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.000000	0.49305	D	0.000154	D	0.99718	0.9891	H	0.99368	4.535	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.97229	0.9883	10	0.87932	D	0	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	2998	Q15911	ZFHX3_HUMAN	Q	2998;2084	ENSP00000268489:R2998Q;ENSP00000438926:R2084Q	ENSP00000268489:R2998Q	R	-	2	0	ZFHX3	71385089	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.818000	0.86416	2.941000	0.99782	0.655000	0.94253	CGG		0.463	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269008.1	NM_006885		51	220	0	0	0	0.870114	0	51	220					T	72827588	C	T	72827588	3	4	56	1	0	0	0	0	1	0	0	0	17631	652	23	2	2126	2	ZFHX3	16	72827588	Missense_Mutation	SNP	C	TCGA-EJ-5507-01A-01D-1576-08		72827588	17527165	39	2911											
TP53	7157	broad.mit.edu	37	chr17	7578406	7578406	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agcgctcatggtgggggcagCgcctcacaacctccgtcatg	7	7	13	14	3	3	0	3	0	0	0	4	0	4	0	3	3	3	2	3	3	1	0	rs28934578		TCGA-EJ-5507-01A-01D-1576-08	TCGA-EJ-5507-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5048e04-2519-42cc-8990-41612b2ad528	8285618d-a4b6-4641-b39e-18b2d8a40bcc	g.chr17:7578406C>T	ENST00000269305.4	-	5	713	c.524G>A	c.(523-525)cGc>cAc	p.R175H	TP53_ENST00000359597.4_Missense_Mutation_p.R175H|TP53_ENST00000420246.2_Missense_Mutation_p.R175H|TP53_ENST00000455263.2_Missense_Mutation_p.R175H|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000413465.2_Missense_Mutation_p.R175H|TP53_ENST00000445888.2_Missense_Mutation_p.R175H	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	175	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		R -> C (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; does not induce SNAI1 degradation; reduces interaction with ZNF385A; dbSNP:rs28934578). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1868473, ECO:0000269|PubMed:7887414, ECO:0000269|PubMed:8825920}.|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R175H(847)|p.R43H(36)|p.R82H(36)|p.R175L(19)|p.0?(8)|p.R175P(6)|p.R174fs*24(3)|p.R175_E180delRCPHHE(3)|p.V173fs*59(2)|p.R174fs*1(2)|p.V157_C176del20(1)|p.V173fs*69(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.R175_H178>X(1)|p.R175fs*5(1)|p.R42fs*24(1)|p.R174_C176delRRC(1)|p.H168fs*69(1)|p.R174fs*70(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.R174fs*3(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GTGGGGGCAGCGCCTCACAAC	0.652	R175H(AU565_BREAST)|R175H(CAL33_UPPER_AERODIGESTIVE_TRACT)|R175H(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|R175H(HCC1395_BREAST)|R175H(HUCCT1_BILIARY_TRACT)|R175H(KLE_ENDOMETRIUM)|R175H(KMS26_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R175H(LS123_LARGE_INTESTINE)|R175H(NCIH196_LUNG)|R175H(RKN_OVARY)|R175H(SKBR3_BREAST)|R175H(SKUT1_SOFT_TISSUE)|R175H(TYKNU_OVARY)	111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2	R175H(AU565_BREAST)|R175H(CAL33_UPPER_AERODIGESTIVE_TRACT)|R175H(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|R175H(HCC1395_BREAST)|R175H(HUCCT1_BILIARY_TRACT)|R175H(KLE_ENDOMETRIUM)|R175H(KMS26_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R175H(LS123_LARGE_INTESTINE)|R175H(NCIH196_LUNG)|R175H(RKN_OVARY)|R175H(SKBR3_BREAST)|R175H(SKUT1_SOFT_TISSUE)|R175H(TYKNU_OVARY)	111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"Mis, N, F"	tumor protein p53			"L, E, M, O"		"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"	"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"		980	Substitution - Missense(944)|Deletion - Frameshift(17)|Whole gene deletion(8)|Deletion - In frame(8)|Complex - deletion inframe(3)	p.R175H(847)|p.R43H(36)|p.R82H(36)|p.R175L(19)|p.0?(8)|p.R175P(6)|p.R174fs*24(3)|p.R175_E180delRCPHHE(3)|p.V173fs*59(2)|p.R174fs*1(2)|p.V157_C176del20(1)|p.V173fs*69(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.R175_H178>X(1)|p.R175fs*5(1)|p.R42fs*24(1)|p.R174_C176delRRC(1)|p.H168fs*69(1)|p.R174fs*70(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.R174fs*3(1)	large_intestine(350)|breast(103)|upper_aerodigestive_tract(74)|stomach(70)|central_nervous_system(69)|oesophagus(67)|ovary(58)|lung(40)|haematopoietic_and_lymphoid_tissue(39)|urinary_tract(22)|prostate(17)|liver(14)|pancreas(11)|endometrium(10)|biliary_tract(10)|bone(9)|kidney(4)|cervix(4)|skin(3)|vulva(2)|soft_tissue(2)|penis(1)|adrenal_gland(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185	GRCh37	CM062017|CM951224	TP53	M	rs28934578	c.(523-525)cGc>cAc	Other conserved DNA damage response genes	tumor protein p53							50	50	50					17																	7578406		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578406C>T	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"Li-Fraumeni syndrome"	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.524G>A	17.37:g.7578406C>T	ENSP00000269305:p.Arg175His	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_ENST00000455263.2_Missense_Mutation_p.R175H|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000269305.4_Missense_Mutation_p.R175H|TP53_ENST00000445888.2_Missense_Mutation_p.R175H|TP53_ENST00000413465.2_Missense_Mutation_p.R175H|TP53_ENST00000359597.4_Missense_Mutation_p.R175H	p.R175H	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	5	656	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	175		R -> C (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934578).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.524G>A	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	31	5.079737	0.94050	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99889	-7.55;-7.55;-7.55;-7.55;-7.55;-7.55;-7.55;-7.55	5.41	5.41	0.78517	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.101149	0.64402	D	0.000008	D	0.99908	0.9956	M	0.92784	3.345	0.80722	A	1	D;P;D;D;P;B;D	0.89917	0.999;0.578;1.0;0.998;0.632;0.213;0.999	D;B;D;D;B;B;D	0.91635	0.985;0.26;0.999;0.921;0.378;0.144;0.939	D	0.96278	0.9204	9	0.87932	D	0	-11.8679	17.0767	0.86588	0.0:1.0:0.0:0.0	rs28934578	136;175;175;82;175;175;175	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	H	175;175;175;175;175;175;164;82;43;82;43	ENSP00000410739:R175H;ENSP00000352610:R175H;ENSP00000269305:R175H;ENSP00000398846:R175H;ENSP00000391127:R175H;ENSP00000391478:R175H;ENSP00000425104:R43H;ENSP00000423862:R82H	ENSP00000269305:R175H	R	-	2	0	TP53	7519131	1.000000	0.71417	0.989000	0.46669	0.795000	0.44927	6.042000	0.70996	2.702000	0.92279	0.655000	0.94253	CGC		0.652	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		32	31	0	0	0	0.779181	0	32	31					T	7578406	C	T	7578406	3	4	56	1	0	0	0	0	1	0	0	0	16378	768	27	1	774	1	TP53	17	7578406	Missense_Mutation	SNP	C	TCGA-EJ-5507-01A-01D-1576-08		7578406	73616804	40	2912											
ACE	1636	broad.mit.edu	37	chr17	61557835	61557835	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tccgccgcgcactgcatcgcCgatacggagacagatacatc	10	6	10	15	6	0	2	0	0	0	2	3	4	1	2	3	1	3	2	3	1	2	2	rs138873311	byFrequency	TCGA-EJ-5507-01A-01D-1576-08	TCGA-EJ-5507-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5048e04-2519-42cc-8990-41612b2ad528	8285618d-a4b6-4641-b39e-18b2d8a40bcc	g.chr17:61557835C>G	ENST00000290866.4	+	5	817	c.793C>G	c.(793-795)Cga>Gga	p.R265G	ACE_ENST00000584529.1_3'UTR|ACE_ENST00000538928.1_Missense_Mutation_p.R265G|ACE_ENST00000428043.1_Missense_Mutation_p.R265G	NM_000789.3	NP_000780.1	P12821	ACE_HUMAN	angiotensin I converting enzyme	265	Peptidase M2 1.				angiotensin catabolic process in blood (GO:0002005)|angiotensin maturation (GO:0002003)|arachidonic acid secretion (GO:0050482)|blood vessel remodeling (GO:0001974)|cellular protein metabolic process (GO:0044267)|hematopoietic stem cell differentiation (GO:0060218)|hormone catabolic process (GO:0042447)|kidney development (GO:0001822)|mononuclear cell proliferation (GO:0032943)|peptide catabolic process (GO:0043171)|regulation of blood pressure (GO:0008217)|regulation of renal output by angiotensin (GO:0002019)|regulation of smooth muscle cell migration (GO:0014910)|regulation of systemic arterial blood pressure by renin-angiotensin (GO:0003081)|regulation of vasoconstriction (GO:0019229)|regulation of vasodilation (GO:0042312)	endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|bradykinin receptor binding (GO:0031711)|carboxypeptidase activity (GO:0004180)|chloride ion binding (GO:0031404)|drug binding (GO:0008144)|endopeptidase activity (GO:0004175)|metallopeptidase activity (GO:0008237)|peptidyl-dipeptidase activity (GO:0008241)|zinc ion binding (GO:0008270)	p.R265G(1)		autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(3)|lung(22)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	51					Benazepril(DB00542)|Candoxatril(DB00616)|Captopril(DB01197)|Cilazapril(DB01340)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519)	ACTGCATCGCCGATACGGAGA	0.602																																						ENST00000290866.4																			1	Substitution - Missense(1)	p.R265G(1)	prostate(1)	autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(3)|lung(22)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	51						c.(793-795)Cga>Gga		angiotensin I converting enzyme	Benazepril(DB00542)|Captopril(DB01197)|Deserpidine(DB01089)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519)						165	144	151					17																	61557835		2203	4300	6503	SO:0001583	missense	1636				arachidonic acid secretion|hormone catabolic process|kidney development|peptide catabolic process|regulation of smooth muscle cell migration	endosome|external side of plasma membrane|extracellular space|integral to membrane|membrane fraction|plasma membrane	actin binding|bradykinin receptor binding|carboxypeptidase activity|chloride ion binding|drug binding|metallopeptidase activity|peptidyl-dipeptidase activity|zinc ion binding	g.chr17:61557835C>G	J04144	CCDS11637.1, CCDS45755.1, CCDS54155.1	17q23.3	2013-06-12	2013-06-12		ENSG00000159640	ENSG00000159640	3.4.15.1	"CD molecules"	2707	protein-coding gene	gene with protein product	"peptidyl-dipeptidase A"	106180	"angiotensin I converting enzyme (peptidyl-dipeptidase A) 1"	DCP1		2554286, 10319862	Standard	NM_001178057		Approved	ACE1, CD143	uc002jau.2	P12821	OTTHUMG00000154927	ENST00000290866.4:c.793C>G	17.37:g.61557835C>G	ENSP00000290866:p.Arg265Gly					ACE_ENST00000538928.1_Missense_Mutation_p.R265G|ACE_ENST00000428043.1_Missense_Mutation_p.R265G|ACE_ENST00000584529.1_3'UTR	p.R265G	NM_000789.3	NP_000780.1	P12821	ACE_HUMAN			5	817	+			265			Peptidase M2 1.		B0LPF0|B4DXI3|E7EU16|P22966|Q53YX9|Q59GY8|Q7M4L4	Missense_Mutation	SNP	ENST00000290866.4	37	c.793C>G	CCDS11637.1	.	.	.	.	.	.	.	.	.	.	C	13.28	2.190150	0.38707	.	.	ENSG00000159640	ENST00000538928;ENST00000290866;ENST00000428043	T;T;T	0.37058	1.22;1.22;1.22	4.02	3.02	0.34903	.	0.292787	0.34067	N	0.004289	T	0.56062	0.1960	M	0.83223	2.63	0.80722	D	1	D;P;D	0.63880	0.983;0.887;0.993	P;B;D	0.63957	0.655;0.378;0.92	T	0.57505	-0.7800	10	0.28530	T	0.3	-1.8898	11.9798	0.53113	0.0:0.9134:0.0:0.0866	.	265;265;265	F5H1K1;P12821-2;P12821	.;.;ACE_HUMAN	G	265	ENSP00000439591:R265G;ENSP00000290866:R265G;ENSP00000397593:R265G	ENSP00000290866:R265G	R	+	1	2	ACE	58911567	0.075000	0.21258	0.968000	0.41197	0.226000	0.24999	3.013000	0.49582	2.074000	0.62210	0.555000	0.69702	CGA		0.602	ACE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337675.2			65	96	0	0	0	0.870114	0	65	96					G	61557835	C	G	61557835	3	3	56	1	0	0	0	0	1	0	0	0	136	644	23	5	811	5	ACE	17	61557835	Missense_Mutation	SNP	C	TCGA-EJ-5507-01A-01D-1576-08	53979429	61557835	19637375	41	2913											
CACNG4	27092	broad.mit.edu	37	chr17	65021047	65021047	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgctgggtggcctgtgcatcGgtgctggcaggatctacagc	5	10	16	10	1	1	0	0	0	1	0	2	1	1	1	1	5	5	4	1	5	1	1			TCGA-EJ-5507-01A-01D-1576-08	TCGA-EJ-5507-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5048e04-2519-42cc-8990-41612b2ad528	8285618d-a4b6-4641-b39e-18b2d8a40bcc	g.chr17:65021047G>A	ENST00000262138.3	+	3	378	c.376G>A	c.(376-378)Ggt>Agt	p.G126S		NM_014405.3	NP_055220.1	Q9UBN1	CCG4_HUMAN	calcium channel, voltage-dependent, gamma subunit 4	126					membrane depolarization (GO:0051899)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|synaptic transmission (GO:0007268)|transmission of nerve impulse (GO:0019226)|transport (GO:0006810)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|endocytic vesicle membrane (GO:0030666)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)	p.G126S(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(3)	19	all_cancers(12;9.86e-11)		BRCA - Breast invasive adenocarcinoma(6;1.35e-07)			CCTGTGCATCGGTGCTGGCAG	0.672																																						ENST00000262138.3																			1	Substitution - Missense(1)	p.G126S(1)	prostate(1)	central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(3)	19						c.(376-378)Ggt>Agt		calcium channel, voltage-dependent, gamma subunit 4							104	89	94					17																	65021047		2203	4300	6503	SO:0001583	missense	27092				membrane depolarization|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane	voltage-gated calcium channel activity	g.chr17:65021047G>A	AH008289	CCDS11667.1	17q24	2006-01-23				ENSG00000075461		"Calcium channel subunits"	1408	protein-coding gene	gene with protein product		606404				10613843	Standard	NM_014405		Approved	MGC11138, MGC24983	uc002jft.2	Q9UBN1		ENST00000262138.3:c.376G>A	17.37:g.65021047G>A	ENSP00000262138:p.Gly126Ser						p.G126S	NM_014405.3	NP_055220.1	Q9UBN1	CCG4_HUMAN	BRCA - Breast invasive adenocarcinoma(6;1.35e-07)		3	378	+	all_cancers(12;9.86e-11)		126					B2RCK0	Missense_Mutation	SNP	ENST00000262138.3	37	c.376G>A	CCDS11667.1	.	.	.	.	.	.	.	.	.	.	G	25.1	4.606071	0.87157	.	.	ENSG00000075461	ENST00000262138	D	0.88124	-2.34	4.81	4.81	0.61882	.	0.000000	0.85682	D	0.000000	D	0.90998	0.7169	M	0.62723	1.935	0.80722	D	1	D	0.71674	0.998	D	0.66847	0.947	D	0.87636	0.2519	10	0.09843	T	0.71	-14.0217	18.2341	0.89944	0.0:0.0:1.0:0.0	.	126	Q9UBN1	CCG4_HUMAN	S	126	ENSP00000262138:G126S	ENSP00000262138:G126S	G	+	1	0	CACNG4	62451509	1.000000	0.71417	0.979000	0.43373	0.651000	0.38670	9.282000	0.95840	2.390000	0.81377	0.561000	0.74099	GGT		0.672	CACNG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447036.1	NM_014405		80	88	0	0	0	0.870114	0	80	88					A	65021047	G	A	65021047	3	1	56	1	0	0	0	0	1	0	0	0	2559	1116	39	2	386	2	CACNG4	17	65021047	Missense_Mutation	SNP	G	TCGA-EJ-5507-01A-01D-1576-08	3463212	65021047	16174163	42	2914											
C18orf34	374864	broad.mit.edu	37	chr18	30903561	30903561	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acaggcttctaaagcttcttCaagttcttcattaacttttc	10	17	4	10	0	5	0	2	0	3	0	6	0	5	0	0	1	2	3	0	1	4	9			TCGA-EJ-5507-01A-01D-1576-08	TCGA-EJ-5507-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5048e04-2519-42cc-8990-41612b2ad528	8285618d-a4b6-4641-b39e-18b2d8a40bcc	g.chr18:30903561C>T	ENST00000383096.3	-	11	1098	c.916G>A	c.(916-918)Gaa>Aaa	p.E306K	CCDC178_ENST00000403303.1_Missense_Mutation_p.E306K|CCDC178_ENST00000406524.2_Missense_Mutation_p.E306K|CCDC178_ENST00000579947.1_Missense_Mutation_p.E306K|CCDC178_ENST00000300227.8_Missense_Mutation_p.E306K|CCDC178_ENST00000583930.1_Missense_Mutation_p.E306K|CCDC178_ENST00000579916.1_Intron|CCDC178_ENST00000402325.1_Missense_Mutation_p.E306K			Q5BJE1	CC178_HUMAN	coiled-coil domain containing 178	306								p.E306K(2)									AAAGCTTCTTCAAGTTCTTCA	0.308																																						ENST00000383096.3																			2	Substitution - Missense(2)	p.E306K(2)	prostate(2)								c.(916-918)Gaa>Aaa		coiled-coil domain containing 178							52	50	50					18																	30903561		2200	4294	6494	SO:0001583	missense	374864							g.chr18:30903561C>T	AK126038	CCDS11906.1, CCDS42424.1	18q12.1	2012-10-15	2012-10-15	2012-10-15	ENSG00000166960	ENSG00000166960			29588	protein-coding gene	gene with protein product			"chromosome 18 open reading frame 34"	C18orf34			Standard	NM_198995		Approved	FLJ44050	uc002kxn.2	Q5BJE1	OTTHUMG00000132279	ENST00000383096.3:c.916G>A	18.37:g.30903561C>T	ENSP00000372576:p.Glu306Lys					CCDC178_ENST00000583930.1_Missense_Mutation_p.E306K|CCDC178_ENST00000406524.2_Missense_Mutation_p.E306K|CCDC178_ENST00000579947.1_Missense_Mutation_p.E306K|CCDC178_ENST00000579916.1_Intron|CCDC178_ENST00000402325.1_Missense_Mutation_p.E306K|CCDC178_ENST00000300227.8_Missense_Mutation_p.E306K|CCDC178_ENST00000403303.1_Missense_Mutation_p.E306K	p.E306K							11	1098	-								A6NDC6|J3KS92|Q6ZP67|Q6ZU20	Missense_Mutation	SNP	ENST00000383096.3	37	c.916G>A	CCDS42424.1	.	.	.	.	.	.	.	.	.	.	C	9.815	1.184302	0.21870	.	.	ENSG00000166960	ENST00000403303;ENST00000383096;ENST00000300227;ENST00000406524;ENST00000402325	T;T;T;T;T	0.31510	1.49;1.49;1.49;1.49;1.49	4.52	-2.3	0.06785	.	.	.	.	.	T	0.15478	0.0373	L	0.29908	0.895	0.09310	N	0.999997	B;B;B;B	0.20052	0.041;0.041;0.041;0.041	B;B;B;B	0.19666	0.026;0.026;0.026;0.026	T	0.37549	-0.9701	9	0.06625	T	0.88	-3.2226	5.5523	0.17097	0.0:0.3054:0.4214:0.2732	.	306;306;306;306	F8W7A7;B5MD75;Q5BJE1-2;Q5BJE1	.;.;.;CR034_HUMAN	K	306	ENSP00000385591:E306K;ENSP00000372576:E306K;ENSP00000300227:E306K;ENSP00000385867:E306K;ENSP00000385234:E306K	ENSP00000300227:E306K	E	-	1	0	C18orf34	29157559	0.099000	0.21834	0.270000	0.24601	0.006000	0.05464	-0.104000	0.10923	-0.630000	0.05567	-0.142000	0.14014	GAA		0.308	CCDC178-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255373.2	NM_198995		9	47	0	0	0	0.411799	0	9	47					T	30903561	C	T	30903561	3	4	56	1	0	0	0	0	1	0	0	0	1902	835	29	3	1739	3	C18orf34	18	30903561	Missense_Mutation	SNP	C	TCGA-EJ-5507-01A-01D-1576-08		30903561	47173687	43	2915											
PPP5C	5536	broad.mit.edu	37	chr19	46850390	46850400	+	Frame_Shift_Del	DEL	GAGCCCCCCCG	GAGCCCCCCCG	-																															gcgagaggactgagtgtgctGagcccccccgggacgaaccc																								rs376984861|rs150667064	byFrequency	TCGA-EJ-5507-01A-01D-1576-08	TCGA-EJ-5507-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5048e04-2519-42cc-8990-41612b2ad528	8285618d-a4b6-4641-b39e-18b2d8a40bcc	g.chr19:46850390_46850400delGAGCCCCCCCG	ENST00000012443.4	+	1	140_150	c.37_47delGAGCCCCCCCG	c.(37-48)gagcccccccggfs	p.EPPR13fs	PPP5C_ENST00000391919.1_5'UTR	NM_006247.3	NP_006238.1	P53041	PPP5_HUMAN	protein phosphatase 5, catalytic subunit	13					cell death (GO:0008219)|DNA repair (GO:0006281)|mitotic nuclear division (GO:0007067)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|protein dephosphorylation (GO:0006470)|protein heterooligomerization (GO:0051291)|response to morphine (GO:0043278)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	identical protein binding (GO:0042802)|lipid binding (GO:0008289)|metal ion binding (GO:0046872)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|RNA binding (GO:0003723)|signal transducer activity (GO:0004871)	p.R16fs*7(1)|p.P14H(1)		endometrium(4)|kidney(1)|large_intestine(5)|liver(2)|lung(4)|ovary(1)|pancreas(1)	18		Ovarian(192;0.0731)|all_neural(266;0.196)		OV - Ovarian serous cystadenocarcinoma(262;0.000196)|all cancers(93;0.00192)|GBM - Glioblastoma multiforme(486;0.0499)|Epithelial(262;0.0504)		TGAGTGTGCTGAGCCCCCCCGGGACGAACCC	0.687											OREG0025570	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000012443.4																			2	Substitution - Missense(1)|Insertion - Frameshift(1)	p.R16fs*7(1)|p.P14H(1)	ovary(1)|endometrium(1)	endometrium(4)|kidney(1)|large_intestine(5)|liver(2)|lung(4)|ovary(1)|pancreas(1)	18						c.(37-48)gfs		protein phosphatase 5, catalytic subunit																																				SO:0001589	frameshift_variant	5536				mitosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein dephosphorylation|transcription, DNA-dependent	Golgi apparatus|nucleus	metal ion binding|protein binding|protein serine/threonine phosphatase activity|signal transducer activity	g.chr19:46850390_46850400delGAGCCCCCCCG		CCDS12684.1	19q13.3	2013-01-10			ENSG00000011485	ENSG00000011485	3.1.3.16	"Serine/threonine phosphatases / Protein phosphatase, catalytic subunits", "Tetratricopeptide (TTC) repeat domain containing"	9322	protein-coding gene	gene with protein product		600658		PPP5		8666404	Standard	NM_006247		Approved	PP5	uc002pem.3	P53041	OTTHUMG00000134287	ENST00000012443.4:c.37_47delGAGCCCCCCCG	19.37:g.46850390_46850400delGAGCCCCCCCG	ENSP00000012443:p.Glu13fs		OREG0025570	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	942	PPP5C_ENST00000391919.1_5'UTR	p.EPPR13fs	NM_006247.3	NP_006238.1	P53041	PPP5_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000196)|all cancers(93;0.00192)|GBM - Glioblastoma multiforme(486;0.0499)|Epithelial(262;0.0504)	1	140_150	+		Ovarian(192;0.0731)|all_neural(266;0.196)	13					Q16722|Q53XV2	Frame_Shift_Del	DEL	ENST00000012443.4	37	c.37_47delGAGCCCCCCCG	CCDS12684.1																																																																																				0.687	PPP5C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258969.2	NM_006247		7	9						7	9	---	---	---	---	-	46850400	GAGCCCCCCCG	-	46850390	7	5	56	1	0	1	0	1	0	0	0	0	12406	1291	45	0	39	0	PPP5C	19	46850390	Frame_Shift_Del	DEL	GAGCCCCCCCG	TCGA-EJ-5507-01A-01D-1576-08		46850390	12278593	44	2916											
USP29	57663	broad.mit.edu	37	chr19	57640708	57640708	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttagaaaaagatagagattTgaaactcgggccttcattca	15	12	8	6	1	2	4	2	1	0	3	3	5	2	4	1	1	1	0	1	1	5	6			TCGA-EJ-5507-01A-01D-1576-08	TCGA-EJ-5507-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5048e04-2519-42cc-8990-41612b2ad528	8285618d-a4b6-4641-b39e-18b2d8a40bcc	g.chr19:57640708T>C	ENST00000254181.4	+	4	1119	c.665T>C	c.(664-666)tTg>tCg	p.L222S	USP29_ENST00000598197.1_Missense_Mutation_p.L222S	NM_020903.2	NP_065954.1	Q9HBJ7	UBP29_HUMAN	ubiquitin specific peptidase 29	222					ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type peptidase activity (GO:0008234)|ubiquitin thiolesterase activity (GO:0004221)	p.L222S(1)		breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		GATAGAGATTTGAAACTCGGG	0.363																																						ENST00000254181.4																			1	Substitution - Missense(1)	p.L222S(1)	prostate(1)	breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	85						c.(664-666)tTg>tCg		ubiquitin specific peptidase 29							60	65	63					19																	57640708		2202	4300	6502	SO:0001583	missense	0				protein modification process|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity	g.chr19:57640708T>C		CCDS33124.1	19q13.4	2008-06-23	2005-08-08			ENSG00000131864		"Ubiquitin-specific peptidases"	18563	protein-coding gene	gene with protein product		609546	"ubiquitin specific protease 29"			12838346	Standard	NM_020903		Approved		uc002qny.3	Q9HBJ7		ENST00000254181.4:c.665T>C	19.37:g.57640708T>C	ENSP00000254181:p.Leu222Ser					USP29_ENST00000598197.1_Missense_Mutation_p.L222S	p.L222S	NM_020903.2	NP_065954.1	Q9HBJ7	UBP29_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)	4	1119	+		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)	222						Missense_Mutation	SNP	ENST00000254181.4	37	c.665T>C	CCDS33124.1	.	.	.	.	.	.	.	.	.	.	T	4.385	0.071011	0.08436	.	.	ENSG00000131864	ENST00000254181	T	0.47528	0.84	2.69	-0.933	0.10431	.	1.601390	0.04661	N	0.408918	T	0.26122	0.0637	N	0.20986	0.625	0.09310	N	1	B	0.22276	0.067	B	0.16289	0.015	T	0.13019	-1.0525	10	0.02654	T	1	-0.4415	4.104	0.10028	0.0:0.517:0.2059:0.2771	.	222	Q9HBJ7	UBP29_HUMAN	S	222	ENSP00000254181:L222S	ENSP00000254181:L222S	L	+	2	0	USP29	62332520	0.001000	0.12720	0.000000	0.03702	0.001000	0.01503	-0.086000	0.11233	-0.132000	0.11557	-0.462000	0.05337	TTG		0.363	USP29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465075.1			55	139	0	0	0	0.870114	0	55	139					C	57640708	T	C	57640708	3	2	56	1	0	0	0	0	1	0	0	0	17056	1821	63	4	667	4	USP29	19	57640708	Missense_Mutation	SNP	T	TCGA-EJ-5507-01A-01D-1576-08	10790318	57640708	1488275	45	2917											
EMILIN3	90187	broad.mit.edu	37	chr20	39990961	39990961	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agcctcgtaagctcatccccGgccggggcaccggggcccct	5	5	13	18	4	1	0	1	0	0	0	3	0	2	0	7	5	2	3	7	5	1	1			TCGA-EJ-5507-01A-01D-1576-08	TCGA-EJ-5507-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5048e04-2519-42cc-8990-41612b2ad528	8285618d-a4b6-4641-b39e-18b2d8a40bcc	g.chr20:39990961G>A	ENST00000332312.3	-	4	1440	c.1248C>T	c.(1246-1248)gcC>gcT	p.A416A		NM_052846.1	NP_443078.1	Q9NT22	EMIL3_HUMAN	elastin microfibril interfacer 3	416						cytoplasm (GO:0005737)|proteinaceous extracellular matrix (GO:0005578)		p.A416A(1)		biliary_tract(1)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(15)|ovary(1)|prostate(2)|skin(3)|urinary_tract(2)	30		Myeloproliferative disorder(115;0.00425)				GCTCATCCCCGGCCGGGGCAC	0.642																																						ENST00000332312.3																			1	Substitution - coding silent(1)	p.A416A(1)	prostate(1)	biliary_tract(1)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(15)|ovary(1)|prostate(2)|skin(3)|urinary_tract(2)	30						c.(1246-1248)gcC>gcT		elastin microfibril interfacer 3							47	52	51					20																	39990961		2203	4300	6503	SO:0001819	synonymous_variant	90187					proteinaceous extracellular matrix		g.chr20:39990961G>A	AL031667	CCDS13316.1	20q12	2005-11-06	2004-03-02	2004-03-02	ENSG00000183798	ENSG00000183798		"EMI domain containing"	16123	protein-coding gene	gene with protein product	"chromosome 20 open reading frame 130"	608929	"elastin microfibril interfacer 5"	C20orf130, EMILIN5		12221002	Standard	NM_052846		Approved	dJ620E11.4	uc002xjy.1	Q9NT22	OTTHUMG00000046304	ENST00000332312.3:c.1248C>T	20.37:g.39990961G>A							p.A416A	NM_052846.1	NP_443078.1	Q9NT22	EMIL3_HUMAN			4	1440	-		Myeloproliferative disorder(115;0.00425)	416					Q495S5|Q495S6|Q495S7|Q76KT4	Silent	SNP	ENST00000332312.3	37	c.1248C>T	CCDS13316.1																																																																																				0.642	EMILIN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106876.2	XM_029741		49	93	0	0	0	0.870114	0	49	93					A	39990961	G	A	39990961	2	1	56	1	0	0	0	0	0	0	0	1	5095	1103	39	2		2	EMILIN3	20	39990961	Silent	SNP	G	TCGA-EJ-5507-01A-01D-1576-08		39990961	23034559	46	2918											
SEZ6L	23544	broad.mit.edu	37	chr22	26688423	26688423	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggtccttacctcctgccctCaggagccccggagagaggca	7	6	13	15	1	1	1	1	0	0	1	3	4	3	3	6	4	3	1	6	4	1	1			TCGA-EJ-5507-01A-01D-1576-08	TCGA-EJ-5507-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5048e04-2519-42cc-8990-41612b2ad528	8285618d-a4b6-4641-b39e-18b2d8a40bcc	g.chr22:26688423C>A	ENST00000248933.6	+	2	241	c.146C>A	c.(145-147)tCa>tAa	p.S49*	SEZ6L_ENST00000402979.1_5'UTR|SEZ6L_ENST00000343706.4_Nonsense_Mutation_p.S49*|SEZ6L_ENST00000529632.2_Nonsense_Mutation_p.S49*|SEZ6L_ENST00000404234.3_Nonsense_Mutation_p.S49*|SEZ6L_ENST00000360929.3_Nonsense_Mutation_p.S49*|SEZ6L_ENST00000403121.1_5'UTR			Q9BYH1	SE6L1_HUMAN	seizure related 6 homolog (mouse)-like	49					adult locomotory behavior (GO:0008344)|cerebellar Purkinje cell layer development (GO:0021680)|regulation of protein kinase C signaling (GO:0090036)|synapse maturation (GO:0060074)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)		p.S49*(1)		breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	80						CTCCTGCCCTCAGGAGCCCCG	0.582																																						ENST00000529632.2																			1	Substitution - Nonsense(1)	p.S49*(1)	prostate(1)	breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	80						c.(145-147)tCa>tAa		seizure related 6 homolog (mouse)-like							48	41	44					22																	26688423		2203	4300	6503	SO:0001587	stop_gained	23544					endoplasmic reticulum membrane|integral to membrane		g.chr22:26688423C>A	AL050253	CCDS13833.1, CCDS54508.1, CCDS54510.1, CCDS54511.1, CCDS74837.1	22q12.1	2008-05-14	2001-11-28		ENSG00000100095	ENSG00000100095			10763	protein-coding gene	gene with protein product		607021	"seizure related gene 6 (mouse)-like"				Standard	NM_021115		Approved		uc003acb.3	Q9BYH1	OTTHUMG00000150870	ENST00000248933.6:c.146C>A	22.37:g.26688423C>A	ENSP00000248933:p.Ser49*					SEZ6L_ENST00000402979.1_5'UTR|SEZ6L_ENST00000343706.4_Nonsense_Mutation_p.S49*|SEZ6L_ENST00000403121.1_5'UTR|SEZ6L_ENST00000404234.3_Nonsense_Mutation_p.S49*|SEZ6L_ENST00000248933.6_Nonsense_Mutation_p.S49*|SEZ6L_ENST00000360929.3_Nonsense_Mutation_p.S49*	p.S49*	NM_001184774.1|NM_001184775.1|NM_001184777.1	NP_001171703.1|NP_001171704.1|NP_001171706.1	Q9BYH1	SE6L1_HUMAN			2	342	+			49					A0AUW7|B0QYG4|B0QYG5|B7ZLJ6|G8JLP3|O95917|Q5THY5|Q6IBZ4|Q6UXD4|Q9NUI3|Q9NUI4|Q9NUI5|Q9Y2E1|Q9Y3J6	Nonsense_Mutation	SNP	ENST00000248933.6	37	c.146C>A	CCDS13833.1	.	.	.	.	.	.	.	.	.	.	C	36	5.600567	0.96614	.	.	ENSG00000100095	ENST00000404234;ENST00000529632;ENST00000360929;ENST00000248933;ENST00000343706	.	.	.	3.98	0.5	0.16919	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	5.6447	0.17582	0.0:0.6487:0.1604:0.191	.	.	.	.	X	49	.	ENSP00000248933:S49X	S	+	2	0	SEZ6L	25018423	0.007000	0.16637	0.085000	0.20634	0.139000	0.21198	0.732000	0.26072	0.077000	0.16863	0.508000	0.49915	TCA		0.582	SEZ6L-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000320359.3			31	66	1	0	1.62565e-12	0.760397	1.91826e-12	31	66					A	26688423	C	A	26688423	4	1	56	1	0	0	0	0	0	1	0	0	14143	838	29	5	152	5	SEZ6L	22	26688423	Nonsense_Mutation	SNP	C	TCGA-EJ-5507-01A-01D-1576-08		26688423	24616143	47	2919											
DUSP18	150290	broad.mit.edu	37	chr22	31059967	31059967	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ggctgccggaactgaactggGaaggcacacgagggtgctgt	9	6	17	9	2	0	1	0	1	0	0	0	4	0	3	1	5	4	3	1	5	3	0	rs559815332		TCGA-EJ-5507-01A-01D-1576-08	TCGA-EJ-5507-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5048e04-2519-42cc-8990-41612b2ad528	8285618d-a4b6-4641-b39e-18b2d8a40bcc	g.chr22:31059967G>A	ENST00000334679.3	-	2	529	c.24C>T	c.(22-24)ttC>ttT	p.F8F	DUSP18_ENST00000404885.1_Silent_p.F8F|DUSP18_ENST00000403268.1_Silent_p.F8F|DUSP18_ENST00000407308.1_Silent_p.F8F|DUSP18_ENST00000461301.1_Intron	NM_152511.3	NP_689724.3	Q8NEJ0	DUS18_HUMAN	dual specificity phosphatase 18	8					peptidyl-tyrosine dephosphorylation (GO:0035335)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	MAP kinase tyrosine/serine/threonine phosphatase activity (GO:0017017)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.F8F(2)		large_intestine(1)|lung(1)|prostate(1)|skin(1)	4						ACTGAACTGGGAAGGCACACG	0.562													G|||	1	0.000199681	8e-04	0	5008	,	,		20581	0		0	False		,,,				2504	0					ENST00000403268.1																			2	Substitution - coding silent(2)	p.F8F(2)	prostate(2)	large_intestine(1)|lung(1)|prostate(1)|skin(1)	4						c.(22-24)ttC>ttT		dual specificity phosphatase 18							42	40	41					22																	31059967		2203	4300	6503	SO:0001819	synonymous_variant	0					cytoplasm|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity	g.chr22:31059967G>A	AF461689	CCDS13883.1	22q12.1	2011-06-09				ENSG00000167065		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Atypical dual specificity phosphatases"	18484	protein-coding gene	gene with protein product		611446				12408986	Standard	NM_152511		Approved	DUSP20	uc003aiw.1	Q8NEJ0		ENST00000334679.3:c.24C>T	22.37:g.31059967G>A						DUSP18_ENST00000407308.1_Silent_p.F8F|DUSP18_ENST00000461301.1_Intron|DUSP18_ENST00000334679.3_Silent_p.F8F|DUSP18_ENST00000404885.1_Silent_p.F8F	p.F8F			Q8NEJ0	DUS18_HUMAN			2	494	-			8					B3KPA4	Silent	SNP	ENST00000334679.3	37	c.24C>T	CCDS13883.1																																																																																				0.562	DUSP18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321400.1			16	36	0	0	0	0.500413	0	16	36					A	31059967	G	A	31059967	2	1	56	1	0	0	0	0	0	0	0	1	4817	1165	41	3		3	DUSP18	22	31059967	Silent	SNP	G	TCGA-EJ-5507-01A-01D-1576-08	4371544	31059967	20244599	48	2920											
TEX13A	56157	broad.mit.edu	37	chrX	104463752	104463752	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agtcccagtcccctggcctgCgatatactggaggtctttgc	6	11	11	13	1	1	0	0	0	1	0	3	2	3	1	4	3	3	0	4	3	2	3	rs374863246		TCGA-EJ-5507-01A-01D-1576-08	TCGA-EJ-5507-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5048e04-2519-42cc-8990-41612b2ad528	8285618d-a4b6-4641-b39e-18b2d8a40bcc	g.chrX:104463752C>T	ENST00000413579.1	-	5	1235	c.1124G>A	c.(1123-1125)cGc>cAc	p.R375H	TEX13A_ENST00000372578.3_3'UTR|IL1RAPL2_ENST00000344799.4_Intron|TEX13A_ENST00000372575.1_3'UTR|IL1RAPL2_ENST00000372582.1_Intron			Q9BXU3	TX13A_HUMAN	testis expressed 13A	375							zinc ion binding (GO:0008270)			large_intestine(5)|ovary(2)|upper_aerodigestive_tract(1)	8						CCCTGGCCTGCGATATACTGG	0.542													C|||	2	0.000529801	0.0015	0	3775	,	,		11188	0		0	False		,,,				2504	0					ENST00000413579.1																			0				large_intestine(5)|ovary(2)|upper_aerodigestive_tract(1)	8						c.(1123-1125)cGc>cAc		testis expressed 13A		C	HIS/ARG,	4,3698		0,4,1562,570	163	152	156		1126,	2.5	0	X		156	0,6645		0,0,2408,1829	no	missense,intron	IL1RAPL2,TEX13A	NM_031274.3,NM_017416.1	29,	0,4,3970,2399	TT,TC,CC,C		0.0,0.108,0.0387	possibly-damaging,	375/410,	104463752	4,10343	2136	4237	6373	SO:0001583	missense	56157					intracellular	zinc ion binding	g.chrX:104463752C>T	AF285597	CCDS76005.1	Xq28	2012-04-20	2007-03-13		ENSG00000133149	ENSG00000268629			11735	protein-coding gene	gene with protein product		300312	"testis expressed sequence 13A"			11279525	Standard	NM_031274		Approved		uc004ema.3	Q9BXU3	OTTHUMG00000022133	ENST00000413579.1:c.1124G>A	X.37:g.104463752C>T	ENSP00000399753:p.Arg375His					TEX13A_ENST00000372575.1_3'UTR|TEX13A_ENST00000372578.3_3'UTR|IL1RAPL2_ENST00000372582.1_Intron|IL1RAPL2_ENST00000344799.4_Intron	p.R375H			Q9BXU3	TX13A_HUMAN			5	1235	-			375					B1B1G8|Q32NB6	Missense_Mutation	SNP	ENST00000413579.1	37	c.1124G>A		.	.	.	.	.	.	.	.	.	.	C	14.38	2.517349	0.44763	0.00108	0.0	ENSG00000133149	ENST00000413579	T	0.76448	-1.02	3.41	2.55	0.30701	.	0.459268	0.16326	N	0.219358	T	0.57946	0.2088	L	0.36672	1.1	0.09310	N	1	P	0.45715	0.865	B	0.29716	0.106	T	0.51204	-0.8735	10	0.37606	T	0.19	.	5.9166	0.19057	0.0:0.8517:0.0:0.1483	.	375	Q9BXU3	TX13A_HUMAN	H	375	ENSP00000399753:R375H	ENSP00000399753:R375H	R	-	2	0	TEX13A	104350408	0.017000	0.18338	0.004000	0.12327	0.105000	0.19272	0.810000	0.27183	0.831000	0.34780	-0.422000	0.05995	CGC		0.542	TEX13A-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_031274		6	197	0	0	0	0.217242	0	6	197					T	104463752	C	T	104463752	3	4	56	1	0	0	0	0	1	0	0	0	15773	768	27	1	109	1	TEX13A	23	104463752	Missense_Mutation	SNP	C	TCGA-EJ-5507-01A-01D-1576-08		104463752	50806808	49	2921											
KLHL21	9903	broad.mit.edu	37	chr1	6659137	6659137	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acatgagtccgtttagagtcGcagtcttgggggcgaaggac	9	9	15	8	3	1	2	0	1	1	1	3	4	2	3	1	3	0	2	1	3	2	3			TCGA-EJ-5508-01A-02D-1576-08	TCGA-EJ-5508-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	275b578d-a786-4fdc-a995-5ab0505d68ee	1e2392d3-82f0-4f1e-b949-a0a634c87743	g.chr1:6659137G>A	ENST00000377658.4	-	2	1448	c.1397C>T	c.(1396-1398)gCg>gTg	p.A466V	KLHL21_ENST00000463043.1_Missense_Mutation_p.A99V|KLHL21_ENST00000377663.3_Missense_Mutation_p.A466V|KLHL21_ENST00000467612.1_Missense_Mutation_p.A99V	NM_014851.2	NP_055666.2	Q9UJP4	KLH21_HUMAN	kelch-like family member 21	466					chromosome passenger complex localization to spindle midzone (GO:0035853)|mitotic nuclear division (GO:0007067)|protein ubiquitination (GO:0016567)|regulation of cytokinesis (GO:0032465)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|polar microtubule (GO:0005827)		p.A466V(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|lung(3)|prostate(2)	8	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;7.39e-28)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156)		Colorectal(212;1.36e-07)|COAD - Colon adenocarcinoma(227;1.4e-05)|Kidney(185;4.95e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000528)|KIRC - Kidney renal clear cell carcinoma(229;0.000927)|STAD - Stomach adenocarcinoma(132;0.0172)|READ - Rectum adenocarcinoma(331;0.0644)		GTTTAGAGTCGCAGTCTTGGG	0.592																																						ENST00000377663.3																			1	Substitution - Missense(1)	p.A466V(1)	prostate(1)	central_nervous_system(1)|endometrium(1)|kidney(1)|lung(3)|prostate(2)	8						c.(1396-1398)gCg>gTg		kelch-like family member 21							33	33	33					1																	6659137		2203	4300	6503	SO:0001583	missense	9903				anaphase|cytokinesis|mitosis|protein ubiquitination	Cul3-RING ubiquitin ligase complex|cytoplasm|polar microtubule		g.chr1:6659137G>A	AK090472	CCDS30575.1	1p36	2013-01-30	2013-01-30		ENSG00000162413	ENSG00000162413		"Kelch-like", "BTB/POZ domain containing"	29041	protein-coding gene	gene with protein product			"kelch-like 21 (Drosophila)"				Standard	XM_005263542		Approved	KIAA0469	uc001aoa.3	Q9UJP4	OTTHUMG00000001437	ENST00000377658.4:c.1397C>T	1.37:g.6659137G>A	ENSP00000366886:p.Ala466Val					KLHL21_ENST00000463043.1_Missense_Mutation_p.A99V|KLHL21_ENST00000467612.1_Missense_Mutation_p.A99V|KLHL21_ENST00000377658.4_Missense_Mutation_p.A466V	p.A466V			Q9UJP4	KLH21_HUMAN		Colorectal(212;1.36e-07)|COAD - Colon adenocarcinoma(227;1.4e-05)|Kidney(185;4.95e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000528)|KIRC - Kidney renal clear cell carcinoma(229;0.000927)|STAD - Stomach adenocarcinoma(132;0.0172)|READ - Rectum adenocarcinoma(331;0.0644)	2	1580	-	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;7.39e-28)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156)	466					B3KQP2|O75057|Q5SY26|Q5SY28|Q8N4I6|Q8NF10	Missense_Mutation	SNP	ENST00000377658.4	37	c.1397C>T	CCDS30575.1	.	.	.	.	.	.	.	.	.	.	G	8.510	0.866325	0.17250	.	.	ENSG00000162413	ENST00000377658;ENST00000377663	T;T	0.64260	-0.09;-0.09	5.14	4.01	0.46588	Galactose oxidase, beta-propeller (1);	0.056572	0.64402	N	0.000001	T	0.34164	0.0888	N	0.03983	-0.305	0.28857	N	0.895722	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.17776	-1.0358	10	0.12766	T	0.61	.	10.5895	0.45302	0.9235:0.0:0.0764:0.0	.	466;466	Q9UJP4;Q9UJP4-2	KLH21_HUMAN;.	V	466	ENSP00000366886:A466V;ENSP00000366891:A466V	ENSP00000366886:A466V	A	-	2	0	KLHL21	6581724	1.000000	0.71417	0.995000	0.50966	0.895000	0.52256	5.905000	0.69893	0.893000	0.36288	-0.294000	0.09567	GCG		0.592	KLHL21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004188.1	NM_014851		3	21	0	0	0	0.115264	0	3	21					A	6659137	G	A	6659137	3	1	57	1	0	0	0	0	1	0	0	0	8376	1087	38	1	408	1	KLHL21	1	6659137	Missense_Mutation	SNP	G	TCGA-EJ-5508-01A-02D-1576-08		6659137	242591484	1	2922											
USP48	84196	broad.mit.edu	37	chr1	22056252	22056252	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtttgcagtctataaaccaaCatatatgcatttcgagagca	14	12	7	8	1	1	1	0	0	1	1	2	2	1	1	1	0	5	4	1	0	6	6			TCGA-EJ-5508-01A-02D-1576-08	TCGA-EJ-5508-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	275b578d-a786-4fdc-a995-5ab0505d68ee	1e2392d3-82f0-4f1e-b949-a0a634c87743	g.chr1:22056252C>A	ENST00000308271.9	-	10	1893	c.1245G>T	c.(1243-1245)atG>atT	p.M415I	USP48_ENST00000421625.2_Missense_Mutation_p.M415I|USP48_ENST00000529637.1_Missense_Mutation_p.M414I|USP48_ENST00000400301.1_Missense_Mutation_p.M415I	NM_032236.5	NP_115612.4	Q86UV5	UBP48_HUMAN	ubiquitin specific peptidase 48	415	USP.				ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ubiquitin-specific protease activity (GO:0004843)	p.M415I(2)		NS(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(14)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42		Colorectal(325;3.46e-05)|all_lung(284;4.29e-05)|Lung NSC(340;4.66e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|OV - Ovarian serous cystadenocarcinoma(117;4.74e-26)|COAD - Colon adenocarcinoma(152;1.3e-05)|GBM - Glioblastoma multiforme(114;1.86e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000614)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(1967;0.00711)|Lung(427;0.0327)|READ - Rectum adenocarcinoma(331;0.0657)|LUSC - Lung squamous cell carcinoma(448;0.0753)		TATAAACCAACATATATGCAT	0.398																																						ENST00000308271.9																			2	Substitution - Missense(2)	p.M415I(2)	prostate(1)|endometrium(1)	NS(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(14)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						c.(1243-1245)atG>atT		ubiquitin specific peptidase 48							205	183	190					1																	22056252		2203	4300	6503	SO:0001583	missense	84196				ubiquitin-dependent protein catabolic process	mitochondrion|nucleus	cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr1:22056252C>A	AF502942	CCDS30623.1, CCDS44084.1	1p36.12	2008-02-05	2005-08-08	2004-04-07	ENSG00000090686	ENSG00000090686		"Ubiquitin-specific peptidases"	18533	protein-coding gene	gene with protein product			"ubiquitin specific protease 31", "ubiquitin specific protease 48"	USP31		12838346	Standard	XM_005246009		Approved	FLJ23277, FLJ11328, FLJ20103, FLJ23054, MGC14879	uc001bfb.3	Q86UV5	OTTHUMG00000007798	ENST00000308271.9:c.1245G>T	1.37:g.22056252C>A	ENSP00000309262:p.Met415Ile					USP48_ENST00000421625.2_Missense_Mutation_p.M415I|USP48_ENST00000529637.1_Missense_Mutation_p.M414I|USP48_ENST00000400301.1_Missense_Mutation_p.M415I	p.M415I	NM_032236.5	NP_115612.4	Q86UV5	UBP48_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|OV - Ovarian serous cystadenocarcinoma(117;4.74e-26)|COAD - Colon adenocarcinoma(152;1.3e-05)|GBM - Glioblastoma multiforme(114;1.86e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000614)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(1967;0.00711)|Lung(427;0.0327)|READ - Rectum adenocarcinoma(331;0.0657)|LUSC - Lung squamous cell carcinoma(448;0.0753)	10	1893	-		Colorectal(325;3.46e-05)|all_lung(284;4.29e-05)|Lung NSC(340;4.66e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)	415					B7ZKS7|Q2M3I4|Q5SZI4|Q5T3T5|Q6NX53|Q8N3F6|Q96F64|Q96IQ3|Q9H5N3|Q9H5T7|Q9NUJ6|Q9NXR0	Missense_Mutation	SNP	ENST00000308271.9	37	c.1245G>T	CCDS30623.1	.	.	.	.	.	.	.	.	.	.	C	26.5	4.743448	0.89663	.	.	ENSG00000090686	ENST00000400301;ENST00000308271;ENST00000529637;ENST00000526044;ENST00000534705;ENST00000421625	T;T;T;T	0.04758	3.56;3.56;3.56;3.56	5.59	5.59	0.84812	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.000000	0.85682	D	0.000000	T	0.23649	0.0572	M	0.74258	2.255	0.80722	D	1	B;P;B;P;D;D	0.76494	0.078;0.861;0.105;0.481;0.999;0.99	B;P;B;B;D;D	0.83275	0.11;0.765;0.148;0.283;0.996;0.95	T	0.00062	-1.2158	10	0.87932	D	0	.	18.9536	0.92649	0.0:1.0:0.0:0.0	.	414;415;415;415;415;415	B7ZKS7;B7ZKS3;Q86UV5-7;Q86UV5-3;Q86UV5-2;Q86UV5	.;.;.;.;.;UBP48_HUMAN	I	415;415;414;1;37;415	ENSP00000383157:M415I;ENSP00000309262:M415I;ENSP00000431949:M414I;ENSP00000406256:M415I	ENSP00000309262:M415I	M	-	3	0	USP48	21928839	1.000000	0.71417	1.000000	0.80357	0.777000	0.43975	7.303000	0.78871	2.782000	0.95742	0.557000	0.71058	ATG		0.398	USP48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021372.1	NM_032236		11	304	1	0	2.80697e-09	0.38729	3.30685e-09	11	304					A	22056252	C	A	22056252	3	1	57	1	0	0	0	0	1	0	0	0	17076	478	17	5	1942	5	USP48	1	22056252	Missense_Mutation	SNP	C	TCGA-EJ-5508-01A-02D-1576-08	15397115	22056252	227194369	2	2923											
PLK3	1263	broad.mit.edu	37	chr1	45269352	45269352	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catccgttggccatcaggatGccaggccagaggtgaggcgc	8	6	15	12	2	1	2	1	1	0	1	2	3	2	3	4	5	1	1	4	5	0	1			TCGA-EJ-5508-01A-02D-1576-08	TCGA-EJ-5508-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	275b578d-a786-4fdc-a995-5ab0505d68ee	1e2392d3-82f0-4f1e-b949-a0a634c87743	g.chr1:45269352G>T	ENST00000372201.4	+	9	1392	c.1153G>T	c.(1153-1155)Gcc>Tcc	p.A385S	PLK3_ENST00000465443.1_3'UTR	NM_004073.2	NP_004064.2	Q9H4B4	PLK3_HUMAN	polo-like kinase 3	385					apoptotic process (GO:0006915)|cellular response to DNA damage stimulus (GO:0006974)|cytoplasmic microtubule organization (GO:0031122)|endomitotic cell cycle (GO:0007113)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|Golgi disassembly (GO:0090166)|mitotic cell cycle checkpoint (GO:0007093)|mitotic G1/S transition checkpoint (GO:0044819)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process involved in cellular response to hypoxia (GO:2000777)|protein kinase B signaling (GO:0043491)|protein phosphorylation (GO:0006468)|regulation of cell division (GO:0051302)|regulation of cytokinesis (GO:0032465)|response to osmotic stress (GO:0006970)|response to radiation (GO:0009314)|response to reactive oxygen species (GO:0000302)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|Golgi stack (GO:0005795)|neuronal cell body (GO:0043025)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|p53 binding (GO:0002039)|protein serine/threonine kinase activity (GO:0004674)	p.A346S(1)		endometrium(4)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Acute lymphoblastic leukemia(166;0.155)					CCATCAGGATGCCAGGCCAGA	0.597																																						ENST00000372201.4																			1	Substitution - Missense(1)	p.A346S(1)	prostate(1)	endometrium(4)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(1153-1155)Gcc>Tcc		polo-like kinase 3							62	50	54					1																	45269352		2203	4300	6503	SO:0001583	missense	1263					membrane	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr1:45269352G>T	AJ293866	CCDS515.1	1p34.1	2013-01-18	2010-06-24	2004-01-28	ENSG00000173846	ENSG00000173846			2154	protein-coding gene	gene with protein product		602913	"cytokine-inducible kinase", "polo-like kinase 3 (Drosophila)"	CNK		8702627	Standard	NM_004073		Approved	FNK, PRK	uc001cmn.3	Q9H4B4	OTTHUMG00000008491	ENST00000372201.4:c.1153G>T	1.37:g.45269352G>T	ENSP00000361275:p.Ala385Ser					PLK3_ENST00000465443.1_3'UTR	p.A385S	NM_004073.2	NP_004064.2	Q9H4B4	PLK3_HUMAN			9	1392	+	Acute lymphoblastic leukemia(166;0.155)		385					Q15767|Q5JR99|Q96CV1	Missense_Mutation	SNP	ENST00000372201.4	37	c.1153G>T	CCDS515.1	.	.	.	.	.	.	.	.	.	.	G	1.260	-0.616067	0.03663	.	.	ENSG00000173846	ENST00000372201;ENST00000543983	T	0.66280	-0.2	5.54	4.59	0.56863	.	.	.	.	.	T	0.36358	0.0964	N	0.04090	-0.28	0.09310	N	1	B	0.02656	0.0	B	0.08055	0.003	T	0.02668	-1.1126	9	0.02654	T	1	-12.4819	14.1025	0.65065	0.0:0.2699:0.7301:0.0	.	385	Q9H4B4	PLK3_HUMAN	S	385;360	ENSP00000361275:A385S	ENSP00000361275:A385S	A	+	1	0	PLK3	45041939	0.618000	0.27051	1.000000	0.80357	0.895000	0.52256	1.346000	0.33964	2.607000	0.88179	0.561000	0.74099	GCC		0.597	PLK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023429.1	NM_004073		7	38	1	0	0.0293803	0.248553	0.0319837	7	38					T	45269352	G	T	45269352	3	4	57	1	0	0	0	0	1	0	0	0	12097	1319	46	5	1187	5	PLK3	1	45269352	Missense_Mutation	SNP	G	TCGA-EJ-5508-01A-02D-1576-08	23213100	45269352	203981269	3	2924											
BRDT	676	broad.mit.edu	37	chr1	92446630	92446630	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cttctctgagcaattccaatCctgatgagatagagatagac	13	11	8	9	0	1	5	0	3	1	3	4	7	3	5	2	0	1	1	2	0	4	4			TCGA-EJ-5508-01A-02D-1576-08	TCGA-EJ-5508-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	275b578d-a786-4fdc-a995-5ab0505d68ee	1e2392d3-82f0-4f1e-b949-a0a634c87743	g.chr1:92446630C>T	ENST00000362005.3	+	11	2063	c.1645C>T	c.(1645-1647)Cct>Tct	p.P549S	BRDT_ENST00000394530.3_Missense_Mutation_p.P503S|BRDT_ENST00000402388.1_Missense_Mutation_p.P549S|BRDT_ENST00000399546.2_Missense_Mutation_p.P549S|BRDT_ENST00000370389.2_Missense_Mutation_p.P476S	NM_001242805.1	NP_001229734	Q58F21	BRDT_HUMAN	bromodomain, testis-specific	549	NET. {ECO:0000255|PROSITE- ProRule:PRU00857}.				cell differentiation (GO:0030154)|chromatin remodeling (GO:0006338)|histone displacement (GO:0001207)|male meiosis (GO:0007140)|male meiosis I (GO:0007141)|mRNA processing (GO:0006397)|positive regulation of transcription during meiosis (GO:0051039)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	histone binding (GO:0042393)|lysine-acetylated histone binding (GO:0070577)|transcription coactivator activity (GO:0003713)	p.P549S(2)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(24)|ovary(1)|prostate(4)|skin(2)|stomach(2)|urinary_tract(2)	56		all_lung(203;0.00531)|Lung NSC(277;0.0194)		all cancers(265;0.0228)|Epithelial(280;0.133)		CAATTCCAATCCTGATGAGAT	0.368																																						ENST00000370389.2																			2	Substitution - Missense(2)	p.P549S(2)	prostate(2)	breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(24)|ovary(1)|prostate(4)|skin(2)|stomach(2)|urinary_tract(2)	56						c.(1426-1428)Cct>Tct		bromodomain, testis-specific							73	75	75					1																	92446630		2203	4300	6503	SO:0001583	missense	676				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein serine/threonine kinase activity|transcription coactivator activity	g.chr1:92446630C>T	AF019085	CCDS735.1, CCDS55615.1, CCDS55616.1, CCDS72820.1	1p22.1	2010-12-23			ENSG00000137948	ENSG00000137948			1105	protein-coding gene	gene with protein product	"cancer/testis antigen 9"	602144				9367677	Standard	NM_001726		Approved	BRD6, CT9	uc010osz.2	Q58F21	OTTHUMG00000010113	ENST00000362005.3:c.1645C>T	1.37:g.92446630C>T	ENSP00000354568:p.Pro549Ser					BRDT_ENST00000402388.1_Missense_Mutation_p.P549S|BRDT_ENST00000394530.3_Missense_Mutation_p.P503S|BRDT_ENST00000362005.3_Missense_Mutation_p.P549S|BRDT_ENST00000399546.2_Missense_Mutation_p.P549S	p.P476S	NM_001242810.1	NP_001229739.1	Q58F21	BRDT_HUMAN		all cancers(265;0.0228)|Epithelial(280;0.133)	10	2350	+		all_lung(203;0.00531)|Lung NSC(277;0.0194)	549					A6NF68|B7Z811|B7Z890|B7ZAX7|D3DT32|O14789|Q05DQ4|Q6P5T1|Q7Z4A6|Q8IWI6	Missense_Mutation	SNP	ENST00000362005.3	37	c.1426C>T	CCDS735.1	.	.	.	.	.	.	.	.	.	.	C	19.20	3.781103	0.70222	.	.	ENSG00000137948	ENST00000362005;ENST00000370389;ENST00000399546;ENST00000394530;ENST00000402388	T;T;T;T;T	0.60548	0.18;0.18;0.18;0.18;0.18	5.97	4.12	0.48240	.	0.109197	0.41396	N	0.000892	T	0.60248	0.2254	M	0.85299	2.745	0.58432	D	0.999998	B;B;B;P	0.45176	0.062;0.062;0.275;0.852	B;B;B;P	0.48524	0.013;0.013;0.174;0.58	T	0.68988	-0.5264	10	0.87932	D	0	-6.661	14.2282	0.65873	0.0:0.9093:0.0:0.0907	.	503;503;553;549	B7ZAX7;B7Z811;B7Z890;Q58F21	.;.;.;BRDT_HUMAN	S	549;476;549;503;549	ENSP00000354568:P549S;ENSP00000359416:P476S;ENSP00000387822:P549S;ENSP00000378038:P503S;ENSP00000384051:P549S	ENSP00000354568:P549S	P	+	1	0	BRDT	92219218	0.923000	0.31300	0.565000	0.28409	0.505000	0.33919	3.996000	0.57009	0.867000	0.35654	0.585000	0.79938	CCT		0.368	BRDT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027980.2	NM_207189		5	141	0	0	0	0.184627	0	5	141					T	92446630	C	T	92446630	3	4	57	1	0	0	0	0	1	0	0	0	1508	855	30	3	1679	3	BRDT	1	92446630	Missense_Mutation	SNP	C	TCGA-EJ-5508-01A-02D-1576-08	47177278	92446630	156803991	4	2925											
ASTN1	460	broad.mit.edu	37	chr1	176853612	176853612	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctgctgggctcgtgaaccGtggagagtctcagcctgtgt	5	11	15	10	2	1	2	1	1	1	1	3	3	1	2	2	2	4	3	2	2	1	0	rs143440206		TCGA-EJ-5508-01A-02D-1576-08	TCGA-EJ-5508-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	275b578d-a786-4fdc-a995-5ab0505d68ee	1e2392d3-82f0-4f1e-b949-a0a634c87743	g.chr1:176853612G>A	ENST00000367654.3	-	19	3324	c.3113C>T	c.(3112-3114)aCg>aTg	p.T1038M	ASTN1_ENST00000424564.2_Missense_Mutation_p.T1030M|ASTN1_ENST00000367657.3_Missense_Mutation_p.T1030M|ASTN1_ENST00000361833.2_Missense_Mutation_p.T1030M	NM_004319.1	NP_004310.1	O14525	ASTN1_HUMAN	astrotactin 1	1038	Fibronectin type-III 1.				locomotory behavior (GO:0007626)|neuron cell-cell adhesion (GO:0007158)|neuron migration (GO:0001764)	endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)		p.T1030M(1)		NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						CTCGTGAACCGTGGAGAGTCT	0.517													G|||	1	0.000199681	8e-04	0	5008	,	,		19356	0		0	False		,,,				2504	0					ENST00000367654.2																			1	Substitution - Missense(1)	p.T1030M(1)	prostate(1)	NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						c.(3112-3114)aCg>aTg		astrotactin 1		G	MET/THR,MET/THR	4,4402	8.1+/-20.4	0,4,2199	105	97	100		3089,3089	1.8	0.2	1	dbSNP_134	100	0,8600		0,0,4300	yes	missense,missense	ASTN1	NM_004319.1,NM_207108.1	81,81	0,4,6499	AA,AG,GG		0.0,0.0908,0.0308	benign,benign	1030/1295,1030/1217	176853612	4,13002	2203	4300	6503	SO:0001583	missense	460				cell migration|neuron cell-cell adhesion	integral to membrane		g.chr1:176853612G>A	AB006627	CCDS1319.1, CCDS44280.1, CCDS65732.1	1q25.2	2008-02-05	2006-08-24	2006-08-24	ENSG00000152092	ENSG00000152092			773	protein-coding gene	gene with protein product		600904	"astrotactin"	ASTN		9070947	Standard	NM_001286164		Approved		uc001glc.3	O14525	OTTHUMG00000035041	ENST00000367654.3:c.3113C>T	1.37:g.176853612G>A	ENSP00000356626:p.Thr1038Met					ASTN1_ENST00000367657.3_Missense_Mutation_p.T1030M|ASTN1_ENST00000424564.2_Missense_Mutation_p.T1030M|ASTN1_ENST00000361833.2_Missense_Mutation_p.T1030M	p.T1038M			O14525	ASTN1_HUMAN			19	3126	-			1038			Fibronectin type-III 1.		A5PL12|B4DHI9|E9PFR8|O60799|Q5W0V7|Q5W0V8	Missense_Mutation	SNP	ENST00000367654.3	37	c.3113C>T		0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	G	8.637	0.895074	0.17613	9.08E-4	0.0	ENSG00000152092	ENST00000367657;ENST00000361833;ENST00000367654;ENST00000424564;ENST00000541808	T;T;T;T	0.43688	0.94;0.94;0.94;0.94	5.79	1.84	0.25277	.	0.331224	0.37393	N	0.002118	T	0.16938	0.0407	N	0.02011	-0.69	0.28795	N	0.899094	B;B	0.18968	0.032;0.013	B;B	0.16722	0.014;0.016	T	0.14364	-1.0475	10	0.45353	T	0.12	-1.3478	9.4443	0.38688	0.3381:0.0:0.6619:0.0	.	1030;1030	O14525-2;B1AJS1	.;.	M	1030;1030;1038;1030;1030	ENSP00000356629:T1030M;ENSP00000354536:T1030M;ENSP00000356626:T1038M;ENSP00000395041:T1030M	ENSP00000354536:T1030M	T	-	2	0	ASTN1	175120235	0.992000	0.36948	0.161000	0.22692	0.709000	0.40893	2.179000	0.42528	0.091000	0.17302	0.655000	0.94253	ACG		0.517	ASTN1-201	KNOWN	basic	protein_coding	protein_coding		NM_004319		22	119	0	0	0	0.639603	0	22	119					A	176853612	G	A	176853612	3	1	57	1	0	0	0	0	1	0	0	0	1064	1145	40	1	819	1	ASTN1	1	176853612	Missense_Mutation	SNP	G	TCGA-EJ-5508-01A-02D-1576-08	84406982	176853612	72397009	5	2926											
PLA2G4A	5321	broad.mit.edu	37	chr1	186915809	186915809	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tacgaaattggcatggctaaAtatggtacttttatggctcc	11	14	9	7	1	0	0	0	0	0	0	1	1	1	0	1	4	2	4	1	4	7	7			TCGA-EJ-5508-01A-02D-1576-08	TCGA-EJ-5508-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	275b578d-a786-4fdc-a995-5ab0505d68ee	1e2392d3-82f0-4f1e-b949-a0a634c87743	g.chr1:186915809A>G	ENST00000367466.3	+	11	1226	c.1074A>G	c.(1072-1074)aaA>aaG	p.K358K	PLA2G4A_ENST00000442353.2_Silent_p.K298K	NM_024420.2	NP_077734	P47712	PA24A_HUMAN	phospholipase A2, group IVA (cytosolic, calcium-dependent)	358	PLA2c. {ECO:0000255|PROSITE- ProRule:PRU00555}.				arachidonic acid metabolic process (GO:0019369)|arachidonic acid secretion (GO:0050482)|blood coagulation (GO:0007596)|cardiolipin acyl-chain remodeling (GO:0035965)|cellular response to antibiotic (GO:0071236)|glycerophospholipid biosynthetic process (GO:0046474)|icosanoid biosynthetic process (GO:0046456)|icosanoid metabolic process (GO:0006690)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid catabolic process (GO:0009395)|phospholipid metabolic process (GO:0006644)|platelet activating factor biosynthetic process (GO:0006663)|platelet activation (GO:0030168)|regulation of cell proliferation (GO:0042127)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|mitochondrial inner membrane (GO:0005743)	calcium ion binding (GO:0005509)|calcium-dependent phospholipase A2 activity (GO:0047498)|calcium-dependent phospholipid binding (GO:0005544)|lysophospholipase activity (GO:0004622)|phospholipase A2 activity (GO:0004623)	p.K358K(2)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|prostate(3)|skin(4)|stomach(1)	53					Aldesleukin(DB00041)|Carbachol(DB00411)|Carbenicillin(DB00578)|Epirubicin(DB00445)|Fluocinolone Acetonide(DB00591)|Fluticasone Propionate(DB00588)|Niflumic Acid(DB04552)|Orlistat(DB01083)|Quinacrine(DB01103)|Streptokinase(DB00086)|Suramin(DB04786)	GCATGGCTAAATATGGTACTT	0.358																																						ENST00000367466.3																			2	Substitution - coding silent(2)	p.K358K(2)	prostate(2)	breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|prostate(3)|skin(4)|stomach(1)	53						c.(1072-1074)aaA>aaG		phospholipase A2, group IVA (cytosolic, calcium-dependent)	Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Medrysone(DB00253)|Quinacrine(DB01103)						97	96	96					1																	186915809		2203	4298	6501	SO:0001819	synonymous_variant	5321				phospholipid catabolic process|platelet activating factor biosynthetic process|platelet activation	cytosol|endoplasmic reticulum membrane	calcium ion binding|calcium-dependent phospholipid binding|lysophospholipase activity	g.chr1:186915809A>G	M72393	CCDS1372.1	1q25	2014-09-17			ENSG00000116711	ENSG00000116711	3.1.1.4, 3.1.1.5		9035	protein-coding gene	gene with protein product		600522		PLA2G4		8175726	Standard	NM_024420		Approved	cPLA2-alpha	uc001gsc.3	P47712	OTTHUMG00000035512	ENST00000367466.3:c.1074A>G	1.37:g.186915809A>G						PLA2G4A_ENST00000442353.2_Silent_p.K298K	p.K358K	NM_024420.2	NP_077734.1	P47712	PA24A_HUMAN			11	1226	+			358			PLA2c.		B1AKG4|Q29R80	Silent	SNP	ENST00000367466.3	37	c.1074A>G	CCDS1372.1																																																																																				0.358	PLA2G4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086236.1	NM_024420		23	121	0	0	0	0.740014	0	23	121					G	186915809	A	G	186915809	2	3	57	1	0	0	0	0	0	0	0	1	12001	98	4	4		4	PLA2G4A	1	186915809	Silent	SNP	A	TCGA-EJ-5508-01A-02D-1576-08	10062197	186915809	62334812	6	2927											
DISP1	84976	broad.mit.edu	37	chr1	223178140	223178162	+	Frame_Shift_Del	DEL	TTGGACCACAGGGTACCTGTGGT	TTGGACCACAGGGTACCTGTGGT	-																															ccagtgcatgtgccggtgccTtggaccacagggtacctgtg																								rs199856419		TCGA-EJ-5508-01A-02D-1576-08	TCGA-EJ-5508-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	275b578d-a786-4fdc-a995-5ab0505d68ee	1e2392d3-82f0-4f1e-b949-a0a634c87743	g.chr1:223178140_223178162delTTGGACCACAGGGTACCTGTGGT	ENST00000284476.6	+	8	3565_3587	c.3401_3423delTTGGACCACAGGGTACCTGTGGT	c.(3400-3423)cttggaccacagggtacctgtggtfs	p.LGPQGTCG1134fs		NM_032890.3	NP_116279.2	Q96F81	DISP1_HUMAN	dispatched homolog 1 (Drosophila)	1134					determination of left/right symmetry (GO:0007368)|diaphragm development (GO:0060539)|dorsal/ventral pattern formation (GO:0009953)|embryonic pattern specification (GO:0009880)|patched ligand maturation (GO:0007225)|peptide transport (GO:0015833)|protein homotrimerization (GO:0070207)|regulation of protein secretion (GO:0050708)|smoothened signaling pathway (GO:0007224)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)	hedgehog receptor activity (GO:0008158)|peptide transporter activity (GO:0015197)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(20)|lung(25)|prostate(4)|skin(1)|stomach(1)|urinary_tract(5)	69				GBM - Glioblastoma multiforme(131;0.102)		TGCCGGTGCCTTGGACCACAGGGTACCTGTGGTCAGATTCCTT	0.48																																						ENST00000284476.6																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(20)|lung(25)|prostate(4)|skin(1)|stomach(1)|urinary_tract(5)	69						c.(3400-3423)cfs		dispatched homolog 1 (Drosophila)																																				SO:0001589	frameshift_variant	84976				diaphragm development|protein homotrimerization|regulation of protein secretion|smoothened signaling pathway	basolateral plasma membrane|integral to membrane	hedgehog receptor activity|peptide transporter activity	g.chr1:223178140_223178162delTTGGACCACAGGGTACCTGTGGT	AK056569	CCDS1536.1	1q42.12	2008-02-05			ENSG00000154309	ENSG00000154309			19711	protein-coding gene	gene with protein product		607502				10619433	Standard	NM_032890		Approved	DISPA, MGC13130, DKFZP434I0428, MGC16796	uc001hnu.2	Q96F81	OTTHUMG00000037893	ENST00000284476.6:c.3401_3423delTTGGACCACAGGGTACCTGTGGT	1.37:g.223178140_223178162delTTGGACCACAGGGTACCTGTGGT	ENSP00000284476:p.Leu1134fs						p.LGPQGTCG1134fs	NM_032890.3	NP_116279.2	Q96F81	DISP1_HUMAN		GBM - Glioblastoma multiforme(131;0.102)	8	3565_3587	+			1134					Q8N7C2|Q96I92|Q9H698|Q9H8H9|Q9UFA2	Frame_Shift_Del	DEL	ENST00000284476.6	37	c.3401_3423delTTGGACCACAGGGTACCTGTGGT	CCDS1536.1																																																																																				0.48	DISP1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092512.1	NM_032890		8	186						8	186	---	---	---	---	-	223178162	TTGGACCACAGGGTACCTGTGGT	-	223178140	7	5	57	1	0	1	0	1	0	0	0	0	4539	1609	56	0	3427	0	DISP1	1	223178140	Frame_Shift_Del	DEL	TTGGACCACAGGGTACCTGTGGT	TCGA-EJ-5508-01A-02D-1576-08	36262331	223178140	26072481	7	2928											
XIRP2	129446	broad.mit.edu	37	chr2	168105389	168105389	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaaacaattatctattgactCtgcaaactgtctctcacaca	15	12	3	11	0	4	1	1	1	3	0	5	1	4	1	0	0	3	1	0	0	6	3			TCGA-EJ-5508-01A-02D-1576-08	TCGA-EJ-5508-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	275b578d-a786-4fdc-a995-5ab0505d68ee	1e2392d3-82f0-4f1e-b949-a0a634c87743	g.chr2:168105389C>T	ENST00000409195.1	+	9	7576	c.7487C>T	c.(7486-7488)tCt>tTt	p.S2496F	XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.S2496F|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.S2274F|XIRP2_ENST00000420519.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	2321					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)		p.S2496F(1)		NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						TCTATTGACTCTGCAAACTGT	0.398																																						ENST00000409195.1																			1	Substitution - Missense(1)	p.S2496F(1)	prostate(1)	NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						c.(7486-7488)tCt>tTt		xin actin-binding repeat containing 2							83	79	80					2																	168105389		1895	4116	6011	SO:0001583	missense	129446				actin cytoskeleton organization	cell junction	actin binding	g.chr2:168105389C>T	AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"myomaxin"	609778	"cardiomyopathy associated 3"	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409195.1:c.7487C>T	2.37:g.168105389C>T	ENSP00000386840:p.Ser2496Phe					XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.S2496F|XIRP2_ENST00000409273.1_Missense_Mutation_p.S2274F|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409605.1_Intron	p.S2496F	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN			9	7576	+			2321					A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Missense_Mutation	SNP	ENST00000409195.1	37	c.7487C>T	CCDS42769.1	.	.	.	.	.	.	.	.	.	.	C	16.78	3.216718	0.58452	.	.	ENSG00000163092	ENST00000409195;ENST00000295237;ENST00000409273	T;T;T	0.02737	4.18;4.18;4.18	5.52	5.52	0.82312	.	0.312135	0.30771	N	0.008905	T	0.12178	0.0296	M	0.63428	1.95	0.80722	D	1	D;D;D	0.71674	0.996;0.998;0.998	P;D;D	0.66847	0.887;0.947;0.947	T	0.00023	-1.2331	10	0.62326	D	0.03	-15.9405	14.8168	0.70041	0.0:1.0:0.0:0.0	.	2321;2321;2274	A4UGR9;A4UGR9-3;A4UGR9-2	XIRP2_HUMAN;.;.	F	2496;2496;2274	ENSP00000386840:S2496F;ENSP00000295237:S2496F;ENSP00000387255:S2274F	ENSP00000295237:S2496F	S	+	2	0	XIRP2	167813635	0.001000	0.12720	0.260000	0.24451	0.340000	0.28889	1.252000	0.32874	2.875000	0.98604	0.643000	0.83706	TCT		0.398	XIRP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333547.1	NM_152381		9	172	0	0	0	0.307466	0	9	172					T	168105389	C	T	168105389	3	4	57	1	0	0	0	0	1	0	0	0	17427	913	32	3	7517	3	XIRP2	2	168105389	Missense_Mutation	SNP	C	TCGA-EJ-5508-01A-02D-1576-08		168105389	75093984	8	2929											
MSTN	2660	broad.mit.edu	37	chr2	190925125	190925125	+	Frame_Shift_Del	DEL	C	C	-																															agctaaatttaaagaagcaaCatttgggttttccatccact																										TCGA-EJ-5508-01A-02D-1576-08	TCGA-EJ-5508-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	275b578d-a786-4fdc-a995-5ab0505d68ee	1e2392d3-82f0-4f1e-b949-a0a634c87743	g.chr2:190925125delC	ENST00000260950.4	-	2	542	c.410delG	c.(409-411)tgtfs	p.C138fs	C2orf88_ENST00000478197.1_Intron	NM_005259.2	NP_005250.1	O14793	GDF8_HUMAN	myostatin	138					cellular response to dexamethasone stimulus (GO:0071549)|muscle organ development (GO:0007517)|negative regulation of muscle hypertrophy (GO:0014741)|negative regulation of skeletal muscle tissue growth (GO:0048632)|ovulation cycle process (GO:0022602)|positive regulation of transcription, DNA-templated (GO:0045893)|response to electrical stimulus (GO:0051602)|response to estrogen (GO:0043627)|response to ethanol (GO:0045471)|response to gravity (GO:0009629)|response to heat (GO:0009408)|response to muscle activity (GO:0014850)|response to testosterone (GO:0033574)|skeletal muscle atrophy (GO:0014732)|skeletal muscle tissue regeneration (GO:0043403)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	growth factor activity (GO:0008083)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|receptor binding (GO:0005102)			endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|skin(1)	12			OV - Ovarian serous cystadenocarcinoma(117;0.000742)|Epithelial(96;0.0121)|all cancers(119;0.0395)			AAAGAAGCAACATTTGGGTTT	0.328																																						ENST00000260950.4																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|skin(1)	12						c.(409-411)ttfs		myostatin							45	46	46					2																	190925125		2203	4299	6502	SO:0001589	frameshift_variant	2660				muscle organ development|positive regulation of transcription, DNA-dependent	extracellular space	cytokine activity|growth factor activity	g.chr2:190925125delC	AF019627	CCDS2303.1	2q32.1	2014-09-17	2007-06-21	2007-06-21	ENSG00000138379	ENSG00000138379			4223	protein-coding gene	gene with protein product		601788	"growth differentiation factor 8"	GDF8		9288100, 10610713, 17003236	Standard	NM_005259		Approved		uc002urp.3	O14793	OTTHUMG00000132663	ENST00000260950.4:c.410delG	2.37:g.190925125delC	ENSP00000260950:p.Cys138fs					C2orf88_ENST00000478197.1_Intron	p.C138fs	NM_005259.2	NP_005250.1	O14793	GDF8_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.000742)|Epithelial(96;0.0121)|all cancers(119;0.0395)		2	542	-			138					A1C2J7|A1C2K0|Q6B0H2	Frame_Shift_Del	DEL	ENST00000260950.4	37	c.410delG	CCDS2303.1																																																																																				0.328	MSTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255917.2	NM_005259		10	160						10	160	---	---	---	---	-	190925125	C	-	190925125	7	5	57	1	0	1	0	1	0	0	0	0	9893	478	17	0	725	0	MSTN	2	190925125	Frame_Shift_Del	DEL	C	TCGA-EJ-5508-01A-02D-1576-08	22819736	190925125	52274248	9	2930											
EOMES	8320	broad.mit.edu	37	chr3	27761814	27761814	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agctcaagaaaggaaacatgCgcctgtgcaagggaatagaa	17	5	12	7	1	1	2	1	0	0	2	1	4	1	4	1	2	4	2	1	2	7	1			TCGA-EJ-5508-01A-02D-1576-08	TCGA-EJ-5508-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	275b578d-a786-4fdc-a995-5ab0505d68ee	1e2392d3-82f0-4f1e-b949-a0a634c87743	g.chr3:27761814C>T	ENST00000295743.4	-	2	1087	c.884G>A	c.(883-885)cGc>cAc	p.R295H	EOMES_ENST00000449599.1_Missense_Mutation_p.R295H|EOMES_ENST00000537516.1_5'UTR|EOMES_ENST00000461503.1_5'UTR			O95936	EOMES_HUMAN	eomesodermin	295					brain development (GO:0007420)|cardioblast differentiation (GO:0010002)|CD8-positive, alpha-beta T cell differentiation involved in immune response (GO:0002302)|cell differentiation involved in embryonic placenta development (GO:0060706)|cerebral cortex neuron differentiation (GO:0021895)|cerebral cortex regionalization (GO:0021796)|endoderm formation (GO:0001706)|endodermal cell fate specification (GO:0001714)|interferon-gamma production (GO:0032609)|mesoderm formation (GO:0001707)|mesodermal to mesenchymal transition involved in gastrulation (GO:0060809)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|olfactory bulb development (GO:0021772)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of neuron differentiation (GO:0045664)|skeletal muscle cell differentiation (GO:0035914)|stem cell maintenance (GO:0019827)|trophectodermal cell differentiation (GO:0001829)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(3)|prostate(1)	21						AGGAAACATGCGCCTGTGCAA	0.532																																						ENST00000295743.4																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(3)|prostate(1)	21						c.(883-885)cGc>cAc		eomesodermin							92	97	95					3																	27761814		2203	4300	6503	SO:0001583	missense	8320				CD8-positive, alpha-beta T cell differentiation involved in immune response|cell differentiation involved in embryonic placenta development|endoderm formation|mesoderm formation|mesodermal to mesenchymal transition involved in gastrulation|positive regulation of transcription, DNA-dependent	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr3:27761814C>T	BC025363	CCDS2646.1, CCDS63585.1	3p24.1	2011-06-13	2010-06-24		ENSG00000163508	ENSG00000163508		"T-boxes"	3372	protein-coding gene	gene with protein product	"T-box brain2"	604615	"eomesodermin (Xenopus laevis) homolog"			9888994, 9434949	Standard	NM_005442		Approved	TBR2	uc003cdy.4	O95936	OTTHUMG00000130570	ENST00000295743.4:c.884G>A	3.37:g.27761814C>T	ENSP00000295743:p.Arg295His					EOMES_ENST00000461503.1_5'UTR|EOMES_ENST00000449599.1_Missense_Mutation_p.R295H|EOMES_ENST00000537516.1_5'UTR	p.R295H			O95936	EOMES_HUMAN			2	1087	-			295					B7Z4I2|B7ZA51|G3XAI5|Q8TAZ2|Q9UPM7	Missense_Mutation	SNP	ENST00000295743.4	37	c.884G>A	CCDS2646.1	.	.	.	.	.	.	.	.	.	.	C	27.6	4.846803	0.91277	.	.	ENSG00000163508	ENST00000295743;ENST00000449599;ENST00000535713	D;D	0.91180	-2.8;-2.8	4.74	4.74	0.60224	Transcription factor, T-box, conserved site (1);p53-like transcription factor, DNA-binding (1);	0.000000	0.85682	D	0.000000	D	0.96981	0.9014	H	0.96208	3.785	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.984;0.993	D	0.98340	1.0538	10	0.87932	D	0	.	17.9174	0.88955	0.0:1.0:0.0:0.0	.	295;295;295	F5H3K1;G3XAI5;O95936	.;.;EOMES_HUMAN	H	295;295;160	ENSP00000295743:R295H;ENSP00000388620:R295H	ENSP00000295743:R295H	R	-	2	0	EOMES	27736818	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	7.590000	0.82653	2.449000	0.82847	0.563000	0.77884	CGC		0.532	EOMES-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252995.1	NM_005442		4	202	0	0	0	0.150653	0	4	202					T	27761814	C	T	27761814	3	4	57	1	0	0	0	0	1	0	0	0	5147	768	27	1	1196	1	EOMES	3	27761814	Missense_Mutation	SNP	C	TCGA-EJ-5508-01A-02D-1576-08		27761814	170260616	10	2931											
HYAL3	8372	broad.mit.edu	37	chr3	50332156	50332156	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ttacctgggacaggaacctcCcagatctccggtgtgtgagg	8	9	13	11	1	1	2	0	1	1	1	3	4	2	4	4	4	2	0	4	4	2	1			TCGA-EJ-5508-01A-02D-1576-08	TCGA-EJ-5508-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	275b578d-a786-4fdc-a995-5ab0505d68ee	1e2392d3-82f0-4f1e-b949-a0a634c87743	g.chr3:50332156C>A	ENST00000336307.1	-	2	1150	c.878G>T	c.(877-879)gGg>gTg	p.G293V	IFRD2_ENST00000417626.2_5'Flank|IFRD2_ENST00000336089.4_5'Flank|HYAL3_ENST00000415204.1_Missense_Mutation_p.G44V|IFRD2_ENST00000484043.1_5'Flank|IFRD2_ENST00000429673.2_5'Flank|HYAL3_ENST00000359051.3_Missense_Mutation_p.G293V|HYAL3_ENST00000450982.1_Missense_Mutation_p.G293V|HYAL3_ENST00000513170.1_Missense_Mutation_p.G44V|IFRD2_ENST00000436390.1_5'Flank	NM_001200029.1|NM_003549.3	NP_001186958.1|NP_003540.2	O43820	HYAL3_HUMAN	hyaluronoglucosaminidase 3	293					carbohydrate metabolic process (GO:0005975)|cartilage development (GO:0051216)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|cellular response to UV-B (GO:0071493)|hyaluronan catabolic process (GO:0030214)|inflammatory response (GO:0006954)|response to antibiotic (GO:0046677)|response to virus (GO:0009615)	cytoplasmic vesicle (GO:0031410)|extracellular region (GO:0005576)|lysosome (GO:0005764)	hyaluronoglucuronidase activity (GO:0033906)|hyalurononglucosaminidase activity (GO:0004415)	p.G293V(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|lung(5)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	19				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		CAGGAACCTCCCAGATCTCCG	0.612																																						ENST00000336307.1																			1	Substitution - Missense(1)	p.G293V(1)	prostate(1)	central_nervous_system(1)|endometrium(2)|kidney(1)|lung(5)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	19						c.(877-879)gGg>gTg		hyaluronoglucosaminidase 3							60	59	59					3																	50332156		2203	4300	6503	SO:0001583	missense	8372				carbohydrate metabolic process	extracellular region|lysosome	hyalurononglucosaminidase activity	g.chr3:50332156C>A	AF040710	CCDS2815.1, CCDS56259.1, CCDS56260.1, CCDS56257.1	3p21.3	2004-03-12			ENSG00000186792	ENSG00000186792			5322	protein-coding gene	gene with protein product		604038				10493834	Standard	NM_003549		Approved	LUCA-3, LUCA14, Minna14	uc021wyn.1	O43820	OTTHUMG00000156936	ENST00000336307.1:c.878G>T	3.37:g.50332156C>A	ENSP00000337425:p.Gly293Val					HYAL3_ENST00000359051.3_Missense_Mutation_p.G293V|HYAL3_ENST00000513170.1_Missense_Mutation_p.G44V|HYAL3_ENST00000450982.1_Missense_Mutation_p.G293V|HYAL3_ENST00000415204.1_Missense_Mutation_p.G44V	p.G293V	NM_001200029.1|NM_003549.3	NP_001186958.1|NP_003540.2	O43820	HYAL3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)	2	1150	-			293					O60540|Q8NFK2|Q8NFK3|Q8NFK4|Q96E56|Q9BRW9	Missense_Mutation	SNP	ENST00000336307.1	37	c.878G>T	CCDS2815.1	.	.	.	.	.	.	.	.	.	.	C	9.690	1.151650	0.21371	.	.	ENSG00000186792	ENST00000359051;ENST00000336307;ENST00000415204;ENST00000513170;ENST00000450982	T;T;T;T;T	0.21543	2.0;2.0;2.0;2.0;2.0	5.26	4.39	0.52855	Aldolase-type TIM barrel (1);Glycoside hydrolase, superfamily (1);	0.524546	0.17242	U	0.181517	T	0.16981	0.0408	L	0.49455	1.56	0.32113	N	0.589059	P;P;P;P	0.41848	0.634;0.493;0.684;0.763	B;B;B;B	0.36845	0.234;0.085;0.197;0.178	T	0.17837	-1.0356	10	0.36615	T	0.2	-13.5646	6.5225	0.22283	0.1796:0.7285:0.0:0.0919	.	44;44;293;293	O43820-4;O43820-3;O43820;O43820-2	.;.;HYAL3_HUMAN;.	V	293;293;44;44;293	ENSP00000351946:G293V;ENSP00000337425:G293V;ENSP00000401092:G44V;ENSP00000424633:G44V;ENSP00000391922:G293V	ENSP00000337425:G293V	G	-	2	0	HYAL3	50307160	0.000000	0.05858	0.962000	0.40283	0.984000	0.73092	0.372000	0.20467	1.218000	0.43458	0.563000	0.77884	GGG		0.612	HYAL3-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000346664.1	NM_003549		27	119	1	0	5.45727e-16	0.729181	6.70464e-16	27	119					A	50332156	C	A	50332156	3	1	57	1	0	0	0	0	1	0	0	0	7465	623	22	5	387	5	HYAL3	3	50332156	Missense_Mutation	SNP	C	TCGA-EJ-5508-01A-02D-1576-08	22570342	50332156	147690274	11	2932											
ARHGEF3	50650	broad.mit.edu	37	chr3	56779442	56779442	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggtccagcagagctttggCggctacttgattgctgcagt	6	12	14	9	1	0	2	0	1	0	1	1	2	1	2	1	3	5	5	1	3	1	4	rs377224126		TCGA-EJ-5508-01A-02D-1576-08	TCGA-EJ-5508-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	275b578d-a786-4fdc-a995-5ab0505d68ee	1e2392d3-82f0-4f1e-b949-a0a634c87743	g.chr3:56779442C>T	ENST00000296315.3	-	7	829	c.661G>A	c.(661-663)Gcc>Acc	p.A221T	ARHGEF3_ENST00000497267.1_Missense_Mutation_p.A192T|ARHGEF3_ENST00000338458.4_Missense_Mutation_p.A253T|ARHGEF3_ENST00000413728.2_Missense_Mutation_p.A227T|ARHGEF3_ENST00000495373.1_Missense_Mutation_p.A221T|ARHGEF3_ENST00000496106.1_Missense_Mutation_p.A227T	NM_019555.2	NP_062455.1	Q9NR81	ARHG3_HUMAN	Rho guanine nucleotide exchange factor (GEF) 3	221	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|intracellular (GO:0005622)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			cervix(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(1)	25				KIRC - Kidney renal clear cell carcinoma(284;0.0161)|Kidney(284;0.019)|OV - Ovarian serous cystadenocarcinoma(275;0.193)		AGAGCTTTGGCGGCTACTTGA	0.463																																						ENST00000413728.2																			0				cervix(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(1)	25						c.(679-681)Gcc>Acc		Rho guanine nucleotide exchange factor (GEF) 3							130	137	135					3																	56779442		2203	4300	6503	SO:0001583	missense	50650				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|Rho protein signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity	g.chr3:56779442C>T	AB209661	CCDS2878.1, CCDS46854.1, CCDS46855.1, CCDS74948.1	3p14.3	2012-09-20			ENSG00000163947	ENSG00000163947		"Rho guanine nucleotide exchange factors"	683	protein-coding gene	gene with protein product	"exchange factor found in platelets and leukemic and neuronal tissues, XPLN", "RhoGEF protein"	612115				10873612	Standard	NM_019555		Approved	STA3, XPLN, GEF3, DKFZP434F2429	uc003dih.2	Q9NR81	OTTHUMG00000158857	ENST00000296315.3:c.661G>A	3.37:g.56779442C>T	ENSP00000296315:p.Ala221Thr					ARHGEF3_ENST00000495373.1_Missense_Mutation_p.A221T|ARHGEF3_ENST00000338458.4_Missense_Mutation_p.A253T|ARHGEF3_ENST00000296315.3_Missense_Mutation_p.A221T|ARHGEF3_ENST00000497267.1_Missense_Mutation_p.A192T|ARHGEF3_ENST00000496106.1_Missense_Mutation_p.A227T	p.A227T	NM_001128616.1	NP_001122088.1	Q9NR81	ARHG3_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0161)|Kidney(284;0.019)|OV - Ovarian serous cystadenocarcinoma(275;0.193)	7	1222	-			221			DH.		A8K5U7|Q4FZB6|Q4QQI5|Q4QQQ0|Q59F00|Q6NUN3|Q7Z4U2|Q7Z5T2|Q9H7T4	Missense_Mutation	SNP	ENST00000296315.3	37	c.679G>A	CCDS2878.1	.	.	.	.	.	.	.	.	.	.	C	36	5.720549	0.96839	.	.	ENSG00000163947	ENST00000296315;ENST00000338458;ENST00000413728;ENST00000496106;ENST00000497267;ENST00000495373	T;T;T;T;T;T	0.69561	-0.41;-0.41;-0.41;-0.41;-0.41;-0.41	5.85	5.85	0.93711	Dbl homology (DH) domain (5);	0.000000	0.85682	D	0.000000	D	0.85729	0.5764	M	0.88512	2.96	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.76575	0.988;0.978;0.943;0.988;0.979;0.988;0.979	D	0.86941	0.2079	10	0.87932	D	0	-14.1455	20.5471	0.99284	0.0:1.0:0.0:0.0	.	227;192;19;221;253;221;227	E9PG37;E7EU49;Q9NR81-4;C9J586;Q9NR81-2;Q9NR81;Q9NR81-3	.;.;.;.;.;ARHG3_HUMAN;.	T	221;253;227;227;192;221	ENSP00000296315:A221T;ENSP00000341071:A253T;ENSP00000410922:A227T;ENSP00000420420:A227T;ENSP00000418826:A192T;ENSP00000417986:A221T	ENSP00000296315:A221T	A	-	1	0	ARHGEF3	56754482	1.000000	0.71417	0.976000	0.42696	0.991000	0.79684	7.818000	0.86416	2.941000	0.99782	0.655000	0.94253	GCC		0.463	ARHGEF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352431.2	NM_019555		5	295	0	0	0	0.184627	0	5	295					T	56779442	C	T	56779442	3	4	57	1	0	0	0	0	1	0	0	0	904	768	27	1	935	1	ARHGEF3	3	56779442	Missense_Mutation	SNP	C	TCGA-EJ-5508-01A-02D-1576-08	6447286	56779442	141242988	12	2933											
SENP7	57337	broad.mit.edu	37	chr3	101049201	101049201	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaatcctctgcactcaaagAcagtgtcgaagtagtacgta	13	9	10	9	2	2	1	1	0	1	1	4	3	3	2	1	1	2	4	1	1	6	3			TCGA-EJ-5508-01A-02D-1576-08	TCGA-EJ-5508-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	275b578d-a786-4fdc-a995-5ab0505d68ee	1e2392d3-82f0-4f1e-b949-a0a634c87743	g.chr3:101049201A>G	ENST00000394095.2	-	20	2781	c.2728T>C	c.(2728-2730)Tct>Cct	p.S910P	SENP7_ENST00000394094.2_Missense_Mutation_p.S845P|SENP7_ENST00000394091.1_Missense_Mutation_p.S746P|SENP7_ENST00000348610.3_Missense_Mutation_p.S877P|SENP7_ENST00000314261.7_Missense_Mutation_p.S844P|SENP7_ENST00000358203.3_Missense_Mutation_p.S746P|SENP7_ENST00000394085.3_Missense_Mutation_p.S98P	NM_001282802.1|NM_020654.3	NP_001269731.1|NP_065705.3	Q9BQF6	SENP7_HUMAN	SUMO1/sentrin specific peptidase 7	910	Protease.					intracellular (GO:0005622)|nucleus (GO:0005634)	cysteine-type peptidase activity (GO:0008234)			breast(2)|endometrium(1)|kidney(1)|large_intestine(16)|lung(15)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						GCACTCAAAGACAGTGTCGAA	0.328																																						ENST00000394095.2																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(16)|lung(15)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						c.(2728-2730)Tct>Cct		SUMO1/sentrin specific peptidase 7							106	103	104					3																	101049201		2203	4300	6503	SO:0001583	missense	57337				proteolysis	nucleus	cysteine-type peptidase activity	g.chr3:101049201A>G		CCDS2941.2, CCDS43121.1, CCDS63704.1, CCDS63705.1, CCDS63706.1	3q12	2008-02-05	2005-08-17		ENSG00000138468	ENSG00000138468			30402	protein-coding gene	gene with protein product		612846	"SUMO1/sentrin specific protease 7"			11214970, 11230166	Standard	NM_001282802		Approved		uc003dut.3	Q9BQF6	OTTHUMG00000149927	ENST00000394095.2:c.2728T>C	3.37:g.101049201A>G	ENSP00000377655:p.Ser910Pro					SENP7_ENST00000358203.3_Missense_Mutation_p.S746P|SENP7_ENST00000348610.3_Missense_Mutation_p.S877P|SENP7_ENST00000394085.3_Missense_Mutation_p.S98P|SENP7_ENST00000394094.2_Missense_Mutation_p.S845P|SENP7_ENST00000314261.7_Missense_Mutation_p.S844P|SENP7_ENST00000394091.1_Missense_Mutation_p.S746P	p.S910P	NM_020654.3	NP_065705.3	Q9BQF6	SENP7_HUMAN			20	2781	-			910			Protease.		A1L3A5|A8MW39|B7WNW8|Q7Z3F4|Q96PS5|Q9C0F6|Q9HBT5	Missense_Mutation	SNP	ENST00000394095.2	37	c.2728T>C	CCDS2941.2	.	.	.	.	.	.	.	.	.	.	A	13.50	2.256085	0.39896	.	.	ENSG00000138468	ENST00000394095;ENST00000394094;ENST00000314261;ENST00000394091;ENST00000358203;ENST00000394085;ENST00000348610	T;T;T;T;T;T;T	0.31510	2.13;2.14;2.14;2.12;2.12;1.49;2.14	5.46	4.28	0.50868	.	0.555479	0.19217	N	0.119786	T	0.44286	0.1286	L	0.51914	1.62	0.09310	N	1	D;D;D;D;P	0.60160	0.969;0.987;0.984;0.98;0.728	P;P;P;P;B	0.62649	0.656;0.905;0.844;0.821;0.24	T	0.24621	-1.0155	10	0.62326	D	0.03	-0.2449	9.4605	0.38781	0.8212:0.1788:0.0:0.0	.	746;844;877;910;98	Q9BQF6-4;Q9BQF6-5;Q9BQF6-2;Q9BQF6;Q9BQF6-3	.;.;.;SENP7_HUMAN;.	P	910;845;844;746;746;98;877	ENSP00000377655:S910P;ENSP00000377654:S845P;ENSP00000313624:S844P;ENSP00000377651:S746P;ENSP00000350936:S746P;ENSP00000377647:S98P;ENSP00000342159:S877P	ENSP00000313624:S844P	S	-	1	0	SENP7	102531891	0.284000	0.24287	0.006000	0.13384	0.327000	0.28475	1.405000	0.34635	0.884000	0.36064	0.383000	0.25322	TCT		0.328	SENP7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313957.2	NM_020654		3	98	0	0	0	0.184627	0	3	98					G	101049201	A	G	101049201	3	3	57	1	0	0	0	0	1	0	0	0	14051	275	10	4	444	4	SENP7	3	101049201	Missense_Mutation	SNP	A	TCGA-EJ-5508-01A-02D-1576-08	44269759	101049201	96973229	13	2934											
TMPRSS11F	389208	broad.mit.edu	37	chr4	68935716	68935716	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gaagattcctcatctttttgCtgtcaatagctggaataagc	11	14	8	8	0	3	1	2	0	1	1	4	3	4	2	1	1	3	2	1	1	5	5			TCGA-EJ-5508-01A-02D-1576-08	TCGA-EJ-5508-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	275b578d-a786-4fdc-a995-5ab0505d68ee	1e2392d3-82f0-4f1e-b949-a0a634c87743	g.chr4:68935716C>T	ENST00000356291.2	-	6	583	c.524G>A	c.(523-525)aGc>aAc	p.S175N	UBA6-AS1_ENST00000499180.2_RNA|UBA6-AS1_ENST00000511571.1_RNA|UBA6-AS1_ENST00000500538.2_RNA	NM_207407.2	NP_997290.2	Q6ZWK6	TM11F_HUMAN	transmembrane protease, serine 11F	175	SEA. {ECO:0000255|PROSITE- ProRule:PRU00188}.					extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(4)	39						CATCTTTTTGCTGTCAATAGC	0.313																																						ENST00000356291.2																			0				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(4)	39						c.(523-525)aGc>aAc		transmembrane protease, serine 11F							149	152	151					4																	68935716		2202	4298	6500	SO:0001583	missense	389208				proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity	g.chr4:68935716C>T	AK122625	CCDS3520.1	4q13.2	2010-04-13			ENSG00000198092	ENSG00000198092		"Serine peptidases / Transmembrane"	29994	protein-coding gene	gene with protein product							Standard	NM_207407		Approved	FLJ16046	uc003hdt.1	Q6ZWK6	OTTHUMG00000129307	ENST00000356291.2:c.524G>A	4.37:g.68935716C>T	ENSP00000348639:p.Ser175Asn					RP11-453E17.1_ENST00000499180.2_RNA|RP11-453E17.1_ENST00000500538.2_RNA|RP11-453E17.1_ENST00000511571.1_RNA	p.S175N	NM_207407.2	NP_997290.2	Q6ZWK6	TM11F_HUMAN			6	583	-			175			SEA.		A8MXX2	Missense_Mutation	SNP	ENST00000356291.2	37	c.524G>A	CCDS3520.1	.	.	.	.	.	.	.	.	.	.	C	9.962	1.222971	0.22457	.	.	ENSG00000198092	ENST00000356291	D	0.88509	-2.39	5.96	3.24	0.37175	SEA (2);	0.424717	0.22358	N	0.061114	T	0.74959	0.3785	N	0.14661	0.345	0.32394	N	0.552795	B	0.02656	0.0	B	0.04013	0.001	T	0.66563	-0.5892	10	0.17369	T	0.5	.	5.6751	0.17743	0.0:0.6144:0.2019:0.1837	.	175	Q6ZWK6	TM11F_HUMAN	N	175	ENSP00000348639:S175N	ENSP00000348639:S175N	S	-	2	0	TMPRSS11F	68618311	0.325000	0.24660	1.000000	0.80357	0.835000	0.47333	-0.145000	0.10265	0.844000	0.35094	0.655000	0.94253	AGC		0.313	TMPRSS11F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251439.1	NM_207407		4	316	0	0	0	0.184627	0	4	316					T	68935716	C	T	68935716	3	4	57	1	0	0	0	0	1	0	0	0	16240	797	28	3	812	3	TMPRSS11F	4	68935716	Missense_Mutation	SNP	C	TCGA-EJ-5508-01A-02D-1576-08		68935716	122218560	14	2935											
ANK2	287	broad.mit.edu	37	chr4	114161711	114161711	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggcaactcttcttctaaaccGgggagctgctgtggacttca	8	11	11	11	1	4	0	1	0	3	0	4	2	4	2	1	4	4	3	1	4	3	4			TCGA-EJ-5508-01A-02D-1576-08	TCGA-EJ-5508-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	275b578d-a786-4fdc-a995-5ab0505d68ee	1e2392d3-82f0-4f1e-b949-a0a634c87743	g.chr4:114161711G>A	ENST00000357077.4	+	8	817	c.764G>A	c.(763-765)cGg>cAg	p.R255Q	ANK2_ENST00000506722.1_Missense_Mutation_p.R234Q|ANK2_ENST00000394537.3_Missense_Mutation_p.R255Q|ANK2_ENST00000264366.6_Missense_Mutation_p.R255Q	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	255					atrial cardiac muscle cell action potential (GO:0086014)|atrial cardiac muscle cell to AV node cell communication (GO:0086066)|atrial septum development (GO:0003283)|axon guidance (GO:0007411)|cardiac muscle contraction (GO:0060048)|cellular calcium ion homeostasis (GO:0006874)|cellular protein localization (GO:0034613)|membrane depolarization during SA node cell action potential (GO:0086046)|paranodal junction assembly (GO:0030913)|positive regulation of calcium ion transmembrane transporter activity (GO:1901021)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cation channel activity (GO:2001259)|positive regulation of gene expression (GO:0010628)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein localization to cell surface (GO:0034394)|protein localization to endoplasmic reticulum (GO:0070972)|protein localization to M-band (GO:0036309)|protein localization to organelle (GO:0033365)|protein localization to plasma membrane (GO:0072659)|protein localization to T-tubule (GO:0036371)|protein stabilization (GO:0050821)|protein targeting to plasma membrane (GO:0072661)|regulation of calcium ion transmembrane transporter activity (GO:1901019)|regulation of calcium ion transport (GO:0051924)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to methylmercury (GO:0051597)|SA node cell action potential (GO:0086015)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|T-tubule organization (GO:0033292)|ventricular cardiac muscle cell action potential (GO:0086005)	A band (GO:0031672)|basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intracellular (GO:0005622)|M band (GO:0031430)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|potassium channel regulator activity (GO:0015459)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)	p.R255Q(1)		NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		CTTCTAAACCGGGGAGCTGCT	0.393																																						ENST00000357077.4																			1	Substitution - Missense(1)	p.R255Q(1)	prostate(1)	NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248						c.(763-765)cGg>cAg		ankyrin 2, neuronal							125	117	120					4																	114161711		2203	4300	6503	SO:0001583	missense	287				axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding	g.chr4:114161711G>A	M37123	CCDS3702.1, CCDS43261.1, CCDS54796.1	4q25-q26	2014-09-17	2003-03-12		ENSG00000145362	ENSG00000145362		"Ankyrin repeat domain containing"	493	protein-coding gene	gene with protein product		106410	"long (electrocardiographic) QT syndrome 4"	LQT4		7485162, 12571597	Standard	NM_001148		Approved		uc003ibe.4	Q01484	OTTHUMG00000132912	ENST00000357077.4:c.764G>A	4.37:g.114161711G>A	ENSP00000349588:p.Arg255Gln					ANK2_ENST00000506722.1_Missense_Mutation_p.R234Q|ANK2_ENST00000394537.3_Missense_Mutation_p.R255Q|ANK2_ENST00000264366.6_Missense_Mutation_p.R255Q	p.R255Q	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)	8	817	+		Ovarian(17;0.0448)|Hepatocellular(203;0.218)	255					Q01485|Q08AC7|Q08AC8|Q7Z3L5	Missense_Mutation	SNP	ENST00000357077.4	37	c.764G>A	CCDS3702.1	.	.	.	.	.	.	.	.	.	.	G	31	5.075126	0.94000	.	.	ENSG00000145362	ENST00000503271;ENST00000503423;ENST00000506722;ENST00000504454;ENST00000394537;ENST00000357077;ENST00000264366;ENST00000343056	T;T;T;T;T;T;T	0.64260	-0.09;0.64;0.64;0.64;0.64;2.5;2.5	5.5	5.5	0.81552	Ankyrin repeat-containing domain (3);	0.000000	0.44902	D	0.000417	T	0.64571	0.2610	N	0.10645	0.015	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;0.998	D;D;D;D;D	0.91635	0.999;0.991;0.999;0.995;0.988	T	0.69405	-0.5154	10	0.41790	T	0.15	.	19.3646	0.94456	0.0:0.0:1.0:0.0	.	255;255;255;234;234	Q01484;Q01484-2;Q01484-4;Q01484-5;F8WEF9	ANK2_HUMAN;.;.;.;.	Q	234;234;234;270;255;255;255;234	ENSP00000423799:R234Q;ENSP00000421011:R234Q;ENSP00000421067:R234Q;ENSP00000424722:R270Q;ENSP00000378044:R255Q;ENSP00000349588:R255Q;ENSP00000264366:R255Q	ENSP00000264366:R255Q	R	+	2	0	ANK2	114381160	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	7.809000	0.86057	2.740000	0.93945	0.650000	0.86243	CGG		0.393	ANK2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256422.2	NM_001148		30	175	0	0	0	0.796494	0	30	175					A	114161711	G	A	114161711	3	1	57	1	0	0	0	0	1	0	0	0	621	1116	39	2	819	2	ANK2	4	114161711	Missense_Mutation	SNP	G	TCGA-EJ-5508-01A-02D-1576-08	45225995	114161711	76992565	15	2936											
GPR98	84059	broad.mit.edu	37	chr5	90021445	90021445	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agattatttaatcattgcaaGtcaaagagatgattccgaat	16	13	7	5	1	2	3	2	1	0	2	3	5	3	3	1	0	1	1	1	0	5	5			TCGA-EJ-5508-01A-02D-1576-08	TCGA-EJ-5508-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	275b578d-a786-4fdc-a995-5ab0505d68ee	1e2392d3-82f0-4f1e-b949-a0a634c87743	g.chr5:90021445G>C	ENST00000405460.2	+	48	10229	c.10133G>C	c.(10132-10134)aGt>aCt	p.S3378T		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	3378					detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		ATCATTGCAAGTCAAAGAGAT	0.299																																						ENST00000405460.2																			0				NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269						c.(10132-10134)aGt>aCt		G protein-coupled receptor 98							97	96	96					5																	90021445		1805	4064	5869	SO:0001583	missense	84059				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr5:90021445G>C	AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"-", "GPCR / Class B : Orphans"	17416	protein-coding gene	gene with protein product		602851	"monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.10133G>C	5.37:g.90021445G>C	ENSP00000384582:p.Ser3378Thr						p.S3378T	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)	48	10229	+		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)	3378					O75171|Q8TF58|Q9H0X5|Q9UL61	Missense_Mutation	SNP	ENST00000405460.2	37	c.10133G>C	CCDS47246.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.50|15.50	2.852206|2.852206	0.51270|0.51270	.|.	.|.	ENSG00000164199|ENSG00000164199	ENST00000405460;ENST00000296619|ENST00000509621	T|.	0.29397|.	1.57|.	5.0|5.0	5.0|5.0	0.66597|0.66597	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.73713|0.73713	0.3622|0.3622	M|M	0.65498|0.65498	2.005|2.005	0.80722|0.80722	D|D	1|1	P;B|.	0.36048|.	0.534;0.308|.	B;B|.	0.28784|.	0.046;0.094|.	T|T	0.72931|0.72931	-0.4142|-0.4142	10|5	0.66056|.	D|.	0.02|.	.|.	17.6328|17.6328	0.88114|0.88114	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	3378;3378|.	E7ETI5;Q8WXG9|.	.;GPR98_HUMAN|.	T|L	3378|944	ENSP00000384582:S3378T|.	ENSP00000296619:S3378T|.	S|V	+|+	2|1	0|0	GPR98|GPR98	90057201|90057201	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.965000|0.965000	0.64279|0.64279	4.016000|4.016000	0.57159|0.57159	2.478000|2.478000	0.83669|0.83669	0.508000|0.508000	0.49915|0.49915	AGT|GTC		0.299	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2	NM_032119		3	284	0	0	0	0.150653	0	3	284					C	90021445	G	C	90021445	3	2	57	1	0	0	0	0	1	0	0	0	6721	1029	36	5	10323	5	GPR98	5	90021445	Missense_Mutation	SNP	G	TCGA-EJ-5508-01A-02D-1576-08		90021445	90893815	16	2937											
RHOBTB3	22836	broad.mit.edu	37	chr5	95128826	95128826	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tatgtacttgaagcagcttgCggaatacaggaagtatattc	13	12	10	6	1	0	1	0	1	0	0	1	3	0	3	0	2	5	4	0	2	8	8	rs148767115		TCGA-EJ-5508-01A-02D-1576-08	TCGA-EJ-5508-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	275b578d-a786-4fdc-a995-5ab0505d68ee	1e2392d3-82f0-4f1e-b949-a0a634c87743	g.chr5:95128826C>T	ENST00000379982.3	+	12	2292	c.1784C>T	c.(1783-1785)gCg>gTg	p.A595V	GLRX_ENST00000508780.1_Intron|GLRX_ENST00000507605.1_Intron|RHOBTB3_ENST00000504179.1_Missense_Mutation_p.A226V	NM_014899.3	NP_055714.3	O94955	RHBT3_HUMAN	Rho-related BTB domain containing 3	595	Interaction with Rab9.				ATP catabolic process (GO:0006200)|retrograde transport, endosome to Golgi (GO:0042147)|small GTPase mediated signal transduction (GO:0007264)	Golgi apparatus (GO:0005794)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|GTP binding (GO:0005525)|Rab GTPase binding (GO:0017137)			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|skin(1)	16		all_cancers(142;2.58e-06)|all_epithelial(76;4.19e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0164)|Colorectal(57;0.0846)|Breast(839;0.198)		all cancers(79;8.79e-16)		AAGCAGCTTGCGGAATACAGG	0.363																																						ENST00000379982.3																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|skin(1)	16						c.(1783-1785)gCg>gTg		Rho-related BTB domain containing 3		C	VAL/ALA	0,4406		0,0,2203	120	117	118		1784	6.2	1	5	dbSNP_134	118	1,8599	1.2+/-3.3	0,1,4299	no	missense	RHOBTB3	NM_014899.3	64	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging	595/612	95128826	1,13005	2203	4300	6503	SO:0001583	missense	22836				retrograde transport, endosome to Golgi	Golgi apparatus	ATP binding|ATPase activity|Rab GTPase binding	g.chr5:95128826C>T	AB020685	CCDS4077.1	5q15	2014-05-09			ENSG00000164292	ENSG00000164292		"BTB/POZ domain containing"	18757	protein-coding gene	gene with protein product		607353				11222756, 17035353	Standard	NM_014899		Approved	KIAA0878	uc003klm.3	O94955	OTTHUMG00000121171	ENST00000379982.3:c.1784C>T	5.37:g.95128826C>T	ENSP00000369318:p.Ala595Val					RHOBTB3_ENST00000504179.1_Missense_Mutation_p.A226V|GLRX_ENST00000508780.1_Intron|GLRX_ENST00000507605.1_Intron	p.A595V	NM_014899.3	NP_055714.3	O94955	RHBT3_HUMAN		all cancers(79;8.79e-16)	12	2292	+		all_cancers(142;2.58e-06)|all_epithelial(76;4.19e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0164)|Colorectal(57;0.0846)|Breast(839;0.198)	595			Interaction with Rab9.		A0PJA4|A8K1W9|Q8IW06	Missense_Mutation	SNP	ENST00000379982.3	37	c.1784C>T	CCDS4077.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.220119	0.79464	0.0	1.16E-4	ENSG00000164292	ENST00000379982;ENST00000504179	T;T	0.74632	-0.11;-0.86	6.17	6.17	0.99709	.	0.207799	0.51477	D	0.000092	T	0.73450	0.3588	L	0.44542	1.39	0.80722	D	1	D	0.58268	0.982	P	0.44772	0.46	T	0.74711	-0.3573	10	0.54805	T	0.06	-17.23	20.4745	0.99168	0.0:1.0:0.0:0.0	.	595	O94955	RHBT3_HUMAN	V	595;226	ENSP00000369318:A595V;ENSP00000422360:A226V	ENSP00000369318:A595V	A	+	2	0	RHOBTB3	95154582	1.000000	0.71417	0.998000	0.56505	0.952000	0.60782	4.662000	0.61525	2.941000	0.99782	0.655000	0.94253	GCG		0.363	RHOBTB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241658.1	NM_014899		4	149	0	0	0	0.184627	0	4	149					T	95128826	C	T	95128826	3	4	57	1	0	0	0	0	1	0	0	0	13335	768	27	1	1830	1	RHOBTB3	5	95128826	Missense_Mutation	SNP	C	TCGA-EJ-5508-01A-02D-1576-08	5107381	95128826	85786434	17	2938											
ADRB2	154	broad.mit.edu	37	chr5	148206406	148206406	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcgcgccatggggcaaccCgggaacggcagcgccttctt	6	6	14	15	5	1	0	0	0	1	0	1	1	1	1	3	4	4	2	3	4	2	2			TCGA-EJ-5508-01A-02D-1576-08	TCGA-EJ-5508-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	275b578d-a786-4fdc-a995-5ab0505d68ee	1e2392d3-82f0-4f1e-b949-a0a634c87743	g.chr5:148206406C>T	ENST00000305988.4	+	1	251	c.12C>T	c.(10-12)ccC>ccT	p.P4P		NM_000024.5	NP_000015	P07550	ADRB2_HUMAN	adrenoceptor beta 2, surface	4					activation of adenylate cyclase activity (GO:0007190)|activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|adrenergic receptor signaling pathway (GO:0071875)|bone resorption (GO:0045453)|brown fat cell differentiation (GO:0050873)|cell surface receptor signaling pathway (GO:0007166)|desensitization of G-protein coupled receptor protein signaling pathway by arrestin (GO:0002032)|diet induced thermogenesis (GO:0002024)|endosome to lysosome transport (GO:0008333)|heat generation (GO:0031649)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of smooth muscle contraction (GO:0045986)|positive regulation of bone mineralization (GO:0030501)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|receptor-mediated endocytosis (GO:0006898)|regulation of sodium ion transport (GO:0002028)|regulation of vasodilation (GO:0042312)|response to cold (GO:0009409)|vasodilation by norepinephrine-epinephrine involved in regulation of systemic arterial blood pressure (GO:0002025)	apical plasma membrane (GO:0016324)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	beta2-adrenergic receptor activity (GO:0004941)|norepinephrine binding (GO:0051380)|potassium channel regulator activity (GO:0015459)|protein homodimerization activity (GO:0042803)	p.P4P(1)		endometrium(1)|kidney(1)|lung(8)|ovary(1)|prostate(3)	14			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Acebutolol(DB01193)|Alprenolol(DB00866)|Amitriptyline(DB00321)|Amphetamine(DB00182)|Arbutamine(DB01102)|Arformoterol(DB01274)|Asenapine(DB06216)|Atenolol(DB00335)|Bambuterol(DB01408)|Betaxolol(DB00195)|Bethanidine(DB00217)|Bevantolol(DB01295)|Bisoprolol(DB00612)|Bopindolol(DB08807)|Bupranolol(DB08808)|Cabergoline(DB00248)|Carteolol(DB00521)|Carvedilol(DB01136)|Clenbuterol(DB01407)|Desipramine(DB01151)|Dipivefrin(DB00449)|Dobutamine(DB00841)|Droxidopa(DB06262)|Ephedra(DB01363)|Epinephrine(DB00668)|Fenoterol(DB01288)|Formoterol(DB00983)|Indacaterol(DB05039)|Isoetarine(DB00221)|Isoprenaline(DB01064)|Labetalol(DB00598)|Levobunolol(DB01210)|Mephentermine(DB01365)|Metipranolol(DB01214)|Metoprolol(DB00264)|Mirtazapine(DB00370)|Nadolol(DB01203)|Nebivolol(DB04861)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Orciprenaline(DB00816)|Oxprenolol(DB01580)|Penbutolol(DB01359)|Phenoxybenzamine(DB00925)|Phenylpropanolamine(DB00397)|Pindolol(DB00960)|Pirbuterol(DB01291)|Procaterol(DB01366)|Propranolol(DB00571)|Pseudoephedrine(DB00852)|Ritodrine(DB00867)|Salbutamol(DB01001)|Salmeterol(DB00938)|Sotalol(DB00489)|Terbutaline(DB00871)|Timolol(DB00373)|Trimipramine(DB00726)	TGGGGCAACCCGGGAACGGCA	0.726																																						ENST00000305988.4																			1	Substitution - coding silent(1)	p.P4P(1)	prostate(1)	endometrium(1)|kidney(1)|lung(8)|ovary(1)|prostate(3)	14						c.(10-12)ccC>ccT		adrenoceptor beta 2, surface	Alprenolol(DB00866)|Arformoterol(DB01274)|Bambuterol(DB01408)|Bisoprolol(DB00612)|Bitolterol(DB00901)|Bretylium(DB01158)|Carteolol(DB00521)|Carvedilol(DB01136)|Clenbuterol(DB01407)|Desipramine(DB01151)|Epinephrine(DB00668)|Fenoterol(DB01288)|Formoterol(DB00983)|Isoproterenol(DB01064)|Labetalol(DB00598)|Levobunolol(DB01210)|Metipranolol(DB01214)|Nadolol(DB01203)|Norepinephrine(DB00368)|Orciprenaline(DB00816)|Oxprenolol(DB01580)|Penbutolol(DB01359)|Pindolol(DB00960)|Pirbuterol(DB01291)|Procaterol(DB01366)|Propranolol(DB00571)|Pseudoephedrine(DB00852)|Ritodrine(DB00867)|Salbutamol(DB01001)|Salmeterol(DB00938)|Terbutaline(DB00871)|Timolol(DB00373)						64	67	66					5																	148206406		2203	4300	6503	SO:0001819	synonymous_variant	154				activation of transmembrane receptor protein tyrosine kinase activity|desensitization of G-protein coupled receptor protein signaling pathway by arrestin|endosome to lysosome transport|positive regulation of MAPKKK cascade|receptor-mediated endocytosis	endosome|integral to plasma membrane|lysosome|receptor complex	beta2-adrenergic receptor activity|norepinephrine binding|potassium channel regulator activity|protein homodimerization activity	g.chr5:148206406C>T	AF022953	CCDS4292.1	5q31-q32	2012-08-08	2012-05-09		ENSG00000169252	ENSG00000169252		"GPCR / Class A : Adrenoceptors : beta"	286	protein-coding gene	gene with protein product		109690	"adrenergic, beta-2-, receptor, surface"	ADRB2R			Standard	NM_000024		Approved	ADRBR, BAR, B2AR	uc003lpr.2	P07550	OTTHUMG00000129933	ENST00000305988.4:c.12C>T	5.37:g.148206406C>T							p.P4P	NM_000024.5	NP_000015.1	P07550	ADRB2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	251	+			4					B0LPE4|B2R7X2|O14823|O14824|O14825|O14826|Q4JG18|Q53GA6|Q6GMT4|Q6P4D8|Q8NEQ9|Q96EC3|Q9UCZ0|Q9UCZ1|Q9UCZ2|Q9UCZ3|Q9UH95|Q9UHA1|Q9UMZ5	Silent	SNP	ENST00000305988.4	37	c.12C>T	CCDS4292.1																																																																																				0.726	ADRB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252189.1	NM_000024		7	88	0	0	0	0.27861	0	7	88					T	148206406	C	T	148206406	2	4	57	1	0	0	0	0	0	0	0	1	341	639	23	2		2	ADRB2	5	148206406	Silent	SNP	C	TCGA-EJ-5508-01A-02D-1576-08	53077580	148206406	32708854	18	2939											
HIST1H2BK	85236	broad.mit.edu	37	chr6	27114512	27114512	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttcttgccgtccttcttctgCgccttagtcacggctttctt	2	18	7	14	3	5	0	1	0	4	0	6	0	6	0	3	1	2	1	3	1	1	7			TCGA-EJ-5508-01A-02D-1576-08	TCGA-EJ-5508-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	275b578d-a786-4fdc-a995-5ab0505d68ee	1e2392d3-82f0-4f1e-b949-a0a634c87743	g.chr6:27114512C>T	ENST00000356950.1	-	1	65	c.66G>A	c.(64-66)gcG>gcA	p.A22A	HIST1H2AH_ENST00000377459.1_5'Flank|HIST1H2BK_ENST00000396891.4_Silent_p.A22A|MIR3143_ENST00000584253.1_RNA			O60814	H2B1K_HUMAN	histone cluster 1, H2bk	22					antibacterial humoral response (GO:0019731)|chromatin organization (GO:0006325)|defense response to Gram-positive bacterium (GO:0050830)|innate immune response in mucosa (GO:0002227)	extracellular space (GO:0005615)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	13						CCTTCTTCTGCGCCTTAGTCA	0.602																																						ENST00000396891.4																			0				breast(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	13						c.(64-66)gcG>gcA		histone cluster 1, H2bk							164	136	146					6																	27114512		2203	4300	6503	SO:0001819	synonymous_variant	85236				defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr6:27114512C>T	AJ223352	CCDS4621.1	6p22.1	2011-01-27	2006-10-11	2003-02-28	ENSG00000197903	ENSG00000197903		"Histones / Replication-dependent"	13954	protein-coding gene	gene with protein product		615045	"H2B histone family, member T", "histone 1, H2bk"	H2BFT		12408966	Standard	NM_080593		Approved	H2BFAiii	uc003nix.2	O60814	OTTHUMG00000014473	ENST00000356950.1:c.66G>A	6.37:g.27114512C>T						HIST1H2BK_ENST00000356950.1_Silent_p.A22A	p.A22A	NM_080593.2	NP_542160.1	O60814	H2B1K_HUMAN			1	107	-			22					A8K7P7|Q2VPI7	Silent	SNP	ENST00000356950.1	37	c.66G>A	CCDS4621.1																																																																																				0.602	HIST1H2BK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040141.1	NM_080593		4	291	0	0	0	0.150653	0	4	291					T	27114512	C	T	27114512	2	4	57	1	0	0	0	0	0	0	0	1	7150	755	27	1		1	HIST1H2BK	6	27114512	Silent	SNP	C	TCGA-EJ-5508-01A-02D-1576-08		27114512	144000555	19	2940											
APOBEC2	10930	broad.mit.edu	37	chr6	41029415	41029415	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctcttcatgtgggaggagccGgagatccaggctgctctgaa	8	9	14	10	1	3	2	1	1	2	1	4	5	4	4	2	4	2	2	2	4	1	1	rs140342245		TCGA-EJ-5508-01A-02D-1576-08	TCGA-EJ-5508-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	275b578d-a786-4fdc-a995-5ab0505d68ee	1e2392d3-82f0-4f1e-b949-a0a634c87743	g.chr6:41029415G>A	ENST00000244669.2	+	2	524	c.480G>A	c.(478-480)ccG>ccA	p.P160P		NM_006789.3	NP_006780.1	Q9Y235	ABEC2_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 2	160					cytidine deamination (GO:0009972)|DNA demethylation (GO:0080111)|mRNA modification (GO:0016556)|mRNA processing (GO:0006397)		cytidine deaminase activity (GO:0004126)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)	p.P160P(1)		endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|prostate(2)|skin(1)	10	Ovarian(28;0.0418)|Colorectal(47;0.196)					GGGAGGAGCCGGAGATCCAGG	0.537													G|||	1	0.000199681	0	0	5008	,	,		19798	0.001		0	False		,,,				2504	0				Ovarian(118;1320 2185 8096 29684)	ENST00000244669.2																			1	Substitution - coding silent(1)	p.P160P(1)	prostate(1)	endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|prostate(2)|skin(1)	10						c.(478-480)ccG>ccA		apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 2							74	78	77					6																	41029415		2203	4300	6503	SO:0001819	synonymous_variant	10930				DNA demethylation|mRNA processing		cytidine deaminase activity|RNA binding|zinc ion binding	g.chr6:41029415G>A	AF161698	CCDS4848.1	6p21	2008-02-05			ENSG00000124701	ENSG00000124701		"Apolipoprotein B mRNA editing enzymes"	605	protein-coding gene	gene with protein product		604797				10403781	Standard	NM_006789		Approved	ARCD1, ARP1	uc003opl.3	Q9Y235	OTTHUMG00000014670	ENST00000244669.2:c.480G>A	6.37:g.41029415G>A							p.P160P	NM_006789.3	NP_006780.1	Q9Y235	ABEC2_HUMAN			2	524	+	Ovarian(28;0.0418)|Colorectal(47;0.196)		160					B2R899|Q53F28|Q5TGU5|Q5TGU6	Silent	SNP	ENST00000244669.2	37	c.480G>A	CCDS4848.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	6.748	0.506888	0.12883	.	.	ENSG00000124701	ENST00000426505	.	.	.	5.91	-11.8	0.00035	.	.	.	.	.	T	0.34629	0.0904	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.61307	-0.7089	5	0.87932	D	0	.	4.6319	0.12506	0.2078:0.4018:0.2741:0.1163	.	.	.	.	Q	125	.	ENSP00000395214:R125Q	R	+	2	0	APOBEC2	41137393	0.000000	0.05858	0.450000	0.26969	0.916000	0.54674	-5.098000	0.00151	-2.116000	0.00830	-1.202000	0.01658	CGG		0.537	APOBEC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040498.1	NM_006789		34	143	0	0	0	0.779181	0	34	143					A	41029415	G	A	41029415	2	1	57	1	0	0	0	0	0	0	0	1	788	1103	39	2		2	APOBEC2	6	41029415	Silent	SNP	G	TCGA-EJ-5508-01A-02D-1576-08	13914903	41029415	130085652	20	2941											
ZNF292	23036	broad.mit.edu	37	chr6	87969899	87969899	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gactgttctcgaattttccaAgcaattactggcctaataca	12	13	6	10	1	1	0	0	0	1	0	3	2	2	0	2	1	3	2	2	1	6	6			TCGA-EJ-5508-01A-02D-1576-08	TCGA-EJ-5508-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	275b578d-a786-4fdc-a995-5ab0505d68ee	1e2392d3-82f0-4f1e-b949-a0a634c87743	g.chr6:87969899A>G	ENST00000369577.3	+	8	6595	c.6552A>G	c.(6550-6552)caA>caG	p.Q2184Q	ZNF292_ENST00000339907.4_Silent_p.Q2179Q	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN	zinc finger protein 292	2184						nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)	p.Q2039Q(1)|p.Q2184Q(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		GAATTTTCCAAGCAATTACTG	0.363																																						ENST00000369577.3																			2	Substitution - coding silent(2)	p.Q2039Q(1)|p.Q2184Q(1)	prostate(2)	NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89						c.(6550-6552)caA>caG		zinc finger protein 292							195	193	194					6																	87969899		1856	4095	5951	SO:0001819	synonymous_variant	23036				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:87969899A>G	AB011102	CCDS47457.1	6q15	2008-10-23			ENSG00000188994	ENSG00000188994		"Zinc fingers, C2H2-type"	18410	protein-coding gene	gene with protein product						9628581	Standard	NM_015021		Approved	KIAA0530, ZFP292, bA393I2.3, Zn-15, Zn-16	uc003plm.4	O60281	OTTHUMG00000015164	ENST00000369577.3:c.6552A>G	6.37:g.87969899A>G						ZNF292_ENST00000339907.4_Silent_p.Q2179Q	p.Q2184Q	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0199)	8	6595	+		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)	2184					Q5W0B2|Q7Z3L7|Q9H8G3|Q9H8J4	Silent	SNP	ENST00000369577.3	37	c.6552A>G	CCDS47457.1																																																																																				0.363	ZNF292-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000376192.2	NM_015021		8	449	0	0	0	0.27861	0	8	449					G	87969899	A	G	87969899	2	3	57	1	0	0	0	0	0	0	0	1	17823	69	3	4		4	ZNF292	6	87969899	Silent	SNP	A	TCGA-EJ-5508-01A-02D-1576-08	46940484	87969899	83145168	21	2942											
PLEKHG1	57480	broad.mit.edu	37	chr6	151161999	151161999	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtccagtctctaagggaaaaAtttcagtgtctcagttcaag	12	12	9	8	0	4	0	3	0	2	0	7	1	5	1	1	1	0	1	1	1	4	3			TCGA-EJ-5508-01A-02D-1576-08	TCGA-EJ-5508-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	275b578d-a786-4fdc-a995-5ab0505d68ee	1e2392d3-82f0-4f1e-b949-a0a634c87743	g.chr6:151161999A>C	ENST00000358517.2	+	16	4336	c.4125A>C	c.(4123-4125)aaA>aaC	p.K1375N	PLEKHG1_ENST00000367328.1_Missense_Mutation_p.K1375N			Q9ULL1	PKHG1_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 1	1375							Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.K1375N(1)		breast(3)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(19)|ovary(5)|prostate(4)|stomach(1)|urinary_tract(3)	53			BRCA - Breast invasive adenocarcinoma(37;0.0923)	OV - Ovarian serous cystadenocarcinoma(155;6.69e-13)		TAAGGGAAAAATTTCAGTGTC	0.363																																						ENST00000367328.1																			1	Substitution - Missense(1)	p.K1375N(1)	prostate(1)	breast(3)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(19)|ovary(5)|prostate(4)|stomach(1)|urinary_tract(3)	53						c.(4123-4125)aaA>aaC		pleckstrin homology domain containing, family G (with RhoGef domain) member 1							69	70	70					6																	151161999		2203	4300	6503	SO:0001583	missense	57480				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	g.chr6:151161999A>C	AB033035	CCDS34552.1	6q25.1	2013-01-11			ENSG00000120278	ENSG00000120278		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	20884	protein-coding gene	gene with protein product						10574462	Standard	XM_005267064		Approved	KIAA1209, ARHGEF41	uc003qny.1	Q9ULL1	OTTHUMG00000015824	ENST00000358517.2:c.4125A>C	6.37:g.151161999A>C	ENSP00000351318:p.Lys1375Asn					PLEKHG1_ENST00000358517.2_Missense_Mutation_p.K1375N	p.K1375N	NM_001029884.1	NP_001025055.1	Q9ULL1	PKHG1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.0923)	OV - Ovarian serous cystadenocarcinoma(155;6.69e-13)	17	4437	+			1375					Q5T1F2	Missense_Mutation	SNP	ENST00000358517.2	37	c.4125A>C	CCDS34552.1	.	.	.	.	.	.	.	.	.	.	A	18.72	3.684202	0.68157	.	.	ENSG00000120278	ENST00000367328;ENST00000358517	T;T	0.72615	-0.67;-0.67	5.7	0.626	0.17670	.	0.000000	0.85682	D	0.000000	T	0.73140	0.3549	M	0.68952	2.095	0.43360	D	0.995439	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.997	T	0.75210	-0.3398	10	0.87932	D	0	.	10.3933	0.44185	0.644:0.0:0.356:0.0	.	1182;1375	Q5EBL9;Q9ULL1	.;PKHG1_HUMAN	N	1375	ENSP00000356297:K1375N;ENSP00000351318:K1375N	ENSP00000351318:K1375N	K	+	3	2	PLEKHG1	151203692	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.418000	0.34782	0.114000	0.18032	0.533000	0.62120	AAA		0.363	PLEKHG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042691.1			28	195	0	0	0	0.729181	0	28	195					C	151161999	A	C	151161999	3	2	57	1	0	0	0	0	1	0	0	0	12068	98	4	5	4183	5	PLEKHG1	6	151161999	Missense_Mutation	SNP	A	TCGA-EJ-5508-01A-02D-1576-08	63192100	151161999	19953068	22	2943											
EEPD1	80820	broad.mit.edu	37	chr7	36324335	36324335	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cctatgggacgcggctgccgGcatggagctgagagacgcgg	7	5	18	11	5	0	2	0	1	0	1	0	5	0	4	2	5	2	3	2	5	1	1			TCGA-EJ-5508-01A-02D-1576-08	TCGA-EJ-5508-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	275b578d-a786-4fdc-a995-5ab0505d68ee	1e2392d3-82f0-4f1e-b949-a0a634c87743	g.chr7:36324335G>A	ENST00000242108.4	+	5	1800	c.1082G>A	c.(1081-1083)gGc>gAc	p.G361D	EEPD1_ENST00000534978.1_Missense_Mutation_p.G361D	NM_030636.2	NP_085139.2	Q7L9B9	EEPD1_HUMAN	endonuclease/exonuclease/phosphatase family domain containing 1	361					DNA repair (GO:0006281)		DNA binding (GO:0003677)	p.G361D(1)		endometrium(2)|large_intestine(3)|lung(10)|ovary(1)|pancreas(1)|skin(1)	18						GCGGCTGCCGGCATGGAGCTG	0.657																																						ENST00000242108.4																			1	Substitution - Missense(1)	p.G361D(1)	lung(1)	endometrium(2)|large_intestine(3)|lung(10)|ovary(1)|pancreas(1)|skin(1)	18						c.(1081-1083)gGc>gAc		endonuclease/exonuclease/phosphatase family domain containing 1							76	85	82					7																	36324335		2203	4300	6503	SO:0001583	missense	80820				DNA repair		DNA binding	g.chr7:36324335G>A	AK027386	CCDS34619.1	7p14.2	2007-12-07	2007-12-07		ENSG00000122547	ENSG00000122547			22223	protein-coding gene	gene with protein product							Standard	NM_030636		Approved	KIAA1706	uc003tfa.3	Q7L9B9	OTTHUMG00000154904	ENST00000242108.4:c.1082G>A	7.37:g.36324335G>A	ENSP00000242108:p.Gly361Asp					EEPD1_ENST00000534978.1_Missense_Mutation_p.G361D	p.G361D	NM_030636.2	NP_085139.2	Q7L9B9	EEPD1_HUMAN			5	1800	+			361					Q96K64|Q9C0F7	Missense_Mutation	SNP	ENST00000242108.4	37	c.1082G>A	CCDS34619.1	.	.	.	.	.	.	.	.	.	.	G	14.43	2.534512	0.45073	.	.	ENSG00000122547	ENST00000242108;ENST00000534978	T;T	0.27720	1.65;1.65	4.75	3.86	0.44501	Endonuclease/exonuclease/phosphatase (2);	0.164239	0.53938	D	0.000044	T	0.29783	0.0744	L	0.54323	1.7	0.31883	N	0.618152	P	0.36465	0.554	B	0.41332	0.354	T	0.25984	-1.0116	10	0.14252	T	0.57	-10.8519	10.3793	0.44101	0.0945:0.0:0.9055:0.0	.	361	Q7L9B9	EEPD1_HUMAN	D	361	ENSP00000242108:G361D;ENSP00000442692:G361D	ENSP00000242108:G361D	G	+	2	0	EEPD1	36290860	1.000000	0.71417	0.051000	0.19133	0.017000	0.09413	5.447000	0.66606	1.101000	0.41535	0.462000	0.41574	GGC		0.657	EEPD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337602.1	NM_030636		4	190	0	0	0	0.248553	0	4	190					A	36324335	G	A	36324335	3	1	57	1	0	0	0	0	1	0	0	0	4932	1203	42	3	1096	3	EEPD1	7	36324335	Missense_Mutation	SNP	G	TCGA-EJ-5508-01A-02D-1576-08		36324335	122814328	23	2944											
ABCB4	5244	broad.mit.edu	37	chr7	87104731	87104731	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cccagttcaaagtcgccctcCgcgctcgtggggcgccaggc	5	6	13	17	5	1	0	1	0	0	0	4	0	2	0	4	3	0	2	4	3	1	1			TCGA-EJ-5508-01A-02D-1576-08	TCGA-EJ-5508-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	275b578d-a786-4fdc-a995-5ab0505d68ee	1e2392d3-82f0-4f1e-b949-a0a634c87743	g.chr7:87104731C>T	ENST00000265723.4	-	2	162	c.51G>A	c.(49-51)gcG>gcA	p.A17A	ABCB4_ENST00000359206.3_Silent_p.A17A|ABCB4_ENST00000545634.1_Silent_p.A17A|ABCB4_ENST00000453593.1_Silent_p.A17A|ABCB4_ENST00000358400.3_Silent_p.A17A	NM_000443.3|NM_018849.2	NP_000434.1|NP_061337.1	P21439	MDR3_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 4	17					cellular lipid metabolic process (GO:0044255)|lipid metabolic process (GO:0006629)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intercellular canaliculus (GO:0046581)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|xenobiotic-transporting ATPase activity (GO:0008559)	p.A17A(1)		breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)				Colchicine(DB01394)|Etravirine(DB06414)|Silodosin(DB06207)	AGTCGCCCTCCGCGCTCGTGG	0.577																																						ENST00000265723.4																			1	Substitution - coding silent(1)	p.A17A(1)	prostate(1)	breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77						c.(49-51)gcG>gcA		ATP-binding cassette, sub-family B (MDR/TAP), member 4							76	70	72					7																	87104731		2203	4300	6503	SO:0001819	synonymous_variant	5244				cellular lipid metabolic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|xenobiotic-transporting ATPase activity	g.chr7:87104731C>T	M23234	CCDS5605.1, CCDS5606.1, CCDS5607.1	7q21	2012-03-14			ENSG00000005471	ENSG00000005471		"ATP binding cassette transporters / subfamily B"	45	protein-coding gene	gene with protein product		171060		PGY3, MDR3		2892668, 11313316	Standard	NM_018850		Approved	MDR2, PFIC-3, GBD1	uc003uiv.1	P21439	OTTHUMG00000023396	ENST00000265723.4:c.51G>A	7.37:g.87104731C>T						ABCB4_ENST00000453593.1_Silent_p.A17A|ABCB4_ENST00000359206.3_Silent_p.A17A|ABCB4_ENST00000358400.3_Silent_p.A17A|ABCB4_ENST00000545634.1_Silent_p.A17A	p.A17A	NM_000443.3|NM_018849.2	NP_000434.1|NP_061337.1	P21439	MDR3_HUMAN			2	162	-	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)		17					A0A2V7|A4D1D3|A4D1D4|A4D1D5|D6W5P3|D6W5P4|Q14813	Silent	SNP	ENST00000265723.4	37	c.51G>A	CCDS5606.1																																																																																				0.577	ABCB4-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000336083.1	NM_000443		13	93	0	0	0	0.411799	0	13	93					T	87104731	C	T	87104731	2	4	57	1	0	0	0	0	0	0	0	1	43	639	23	2		2	ABCB4	7	87104731	Silent	SNP	C	TCGA-EJ-5508-01A-02D-1576-08	50780396	87104731	72033932	24	2945											
MTSS1	9788	broad.mit.edu	37	chr8	125565501	125565501	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gagggttaacggaagcttggCcgctccacattgaggagggc	9	7	16	9	2	0	1	0	1	0	0	1	4	1	3	2	5	2	3	2	5	2	3			TCGA-EJ-5508-01A-02D-1576-08	TCGA-EJ-5508-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	275b578d-a786-4fdc-a995-5ab0505d68ee	1e2392d3-82f0-4f1e-b949-a0a634c87743	g.chr8:125565501C>T	ENST00000518547.1	-	14	2473	c.2000G>A	c.(1999-2001)gGc>gAc	p.G667D	MTSS1_ENST00000354184.4_Missense_Mutation_p.G385D|MTSS1_ENST00000325064.5_Missense_Mutation_p.G671D|NDUFB9_ENST00000522532.1_Intron|MTSS1_ENST00000378017.3_Missense_Mutation_p.G642D|MTSS1_ENST00000431961.2_Missense_Mutation_p.G385D|MTSS1_ENST00000523587.1_5'UTR|MTSS1_ENST00000395508.2_Missense_Mutation_p.G441D|MTSS1_ENST00000524090.1_Missense_Mutation_p.G557D	NM_001282971.1|NM_014751.4	NP_001269900.1|NP_055566.3	O43312	MTSS1_HUMAN	metastasis suppressor 1	667	Pro-rich.				actin cytoskeleton organization (GO:0030036)|actin filament polymerization (GO:0030041)|adherens junction maintenance (GO:0034334)|bone mineralization (GO:0030282)|cell adhesion (GO:0007155)|cellular component movement (GO:0006928)|cellular response to fluid shear stress (GO:0071498)|epithelial cell proliferation involved in renal tubule morphogenesis (GO:2001013)|filopodium assembly (GO:0046847)|glomerulus morphogenesis (GO:0072102)|in utero embryonic development (GO:0001701)|magnesium ion homeostasis (GO:0010960)|microspike assembly (GO:0030035)|negative regulation of epithelial cell proliferation (GO:0050680)|nephron tubule epithelial cell differentiation (GO:0072160)|positive regulation of actin filament bundle assembly (GO:0032233)|renal tubule morphogenesis (GO:0061333)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|ruffle (GO:0001726)	actin monomer binding (GO:0003785)|identical protein binding (GO:0042802)|receptor binding (GO:0005102)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	37	Ovarian(258;0.00438)|all_neural(195;0.00459)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)			GGAAGCTTGGCCGCTCCACAT	0.612																																					Esophageal Squamous(160;622 1893 3862 8546 12509)	ENST00000518547.1																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	37						c.(1999-2001)gGc>gAc		metastasis suppressor 1							108	102	104					8																	125565501		2203	4300	6503	SO:0001583	missense	9788				actin cytoskeleton organization|cell adhesion|cellular component movement|filopodium assembly|transmembrane receptor protein tyrosine kinase signaling pathway	actin cytoskeleton|endocytic vesicle|ruffle	actin monomer binding|cytoskeletal adaptor activity|receptor binding|SH3 domain binding	g.chr8:125565501C>T	AF086645	CCDS6353.1, CCDS64968.1, CCDS64969.1	8p22	2008-02-05			ENSG00000170873	ENSG00000170873			20443	protein-coding gene	gene with protein product		608486				12482861, 12082544	Standard	XM_005251111		Approved	KIAA0429, MIMA, MIMB, MIM	uc003yrk.2	O43312	OTTHUMG00000048189	ENST00000518547.1:c.2000G>A	8.37:g.125565501C>T	ENSP00000429064:p.Gly667Asp					MTSS1_ENST00000524090.1_Missense_Mutation_p.G557D|MTSS1_ENST00000523587.1_5'UTR|NDUFB9_ENST00000522532.1_Intron|MTSS1_ENST00000431961.2_Missense_Mutation_p.G385D|MTSS1_ENST00000395508.2_Missense_Mutation_p.G441D|MTSS1_ENST00000378017.3_Missense_Mutation_p.G642D|MTSS1_ENST00000354184.4_Missense_Mutation_p.G385D|MTSS1_ENST00000325064.5_Missense_Mutation_p.G671D	p.G667D	NM_014751.4	NP_055566.3	O43312	MTSS1_HUMAN	STAD - Stomach adenocarcinoma(47;0.00288)		14	2473	-	Ovarian(258;0.00438)|all_neural(195;0.00459)|Hepatocellular(40;0.108)		667			Pro-rich.		J3KNK6|Q8TCA2|Q96RX2	Missense_Mutation	SNP	ENST00000518547.1	37	c.2000G>A	CCDS6353.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.015173	0.75161	.	.	ENSG00000170873	ENST00000378017;ENST00000518547;ENST00000354184;ENST00000395508;ENST00000325064;ENST00000431961;ENST00000524090	T;T;T;T;T;T;T	0.34667	1.35;1.36;1.44;1.37;1.35;1.44;1.35	6.04	6.04	0.98038	.	0.112377	0.64402	D	0.000017	T	0.43322	0.1242	N	0.24115	0.695	0.58432	D	0.999999	P;D;D;P;P;P;D	0.65815	0.78;0.989;0.995;0.546;0.902;0.767;0.995	B;P;P;B;B;B;P	0.55112	0.335;0.725;0.738;0.186;0.415;0.439;0.769	T	0.22138	-1.0225	10	0.51188	T	0.08	-32.2351	20.5792	0.99380	0.0:1.0:0.0:0.0	.	557;441;642;667;642;385;316	E7EWW5;B7Z3B6;A5YM41;O43312;O43312-4;O43312-2;Q6ZTG0	.;.;.;MTSS1_HUMAN;.;.;.	D	642;667;385;441;671;385;557	ENSP00000367256:G642D;ENSP00000429064:G667D;ENSP00000346119:G385D;ENSP00000378884:G441D;ENSP00000322804:G671D;ENSP00000393606:G385D;ENSP00000428319:G557D	ENSP00000322804:G671D	G	-	2	0	MTSS1	125634682	0.999000	0.42202	1.000000	0.80357	0.968000	0.65278	5.269000	0.65542	2.873000	0.98535	0.561000	0.74099	GGC		0.612	MTSS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109625.3	NM_014751		6	263	0	0	0	0.217242	0	6	263					T	125565501	C	T	125565501	3	4	57	1	0	0	0	0	1	0	0	0	9962	739	26	3	271	3	MTSS1	8	125565501	Missense_Mutation	SNP	C	TCGA-EJ-5508-01A-02D-1576-08		125565501	20798521	25	2946											
FAM154A	158297	broad.mit.edu	37	chr9	18928742	18928742	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aggctcccccatcaggccccGgtaggattgtttttgagtgg	6	11	13	11	1	1	1	1	1	0	0	2	2	2	2	4	5	0	3	4	5	1	4	rs375442616		TCGA-EJ-5508-01A-02D-1576-08	TCGA-EJ-5508-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	275b578d-a786-4fdc-a995-5ab0505d68ee	1e2392d3-82f0-4f1e-b949-a0a634c87743	g.chr9:18928742G>A	ENST00000380534.4	-	4	1012	c.733C>T	c.(733-735)Cgg>Tgg	p.R245W	FAM154A_ENST00000542071.1_Missense_Mutation_p.R53W|FAM154A_ENST00000380530.1_3'UTR	NM_153707.2	NP_714918.2	Q8IYX7	F154A_HUMAN	family with sequence similarity 154, member A	245								p.R245W(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(1)|skin(1)	26				GBM - Glioblastoma multiforme(50;6.53e-16)		ATCAGGCCCCGGTAGGATTGT	0.532																																						ENST00000380534.4																			1	Substitution - Missense(1)	p.R245W(1)	prostate(1)	breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(1)|skin(1)	26						c.(733-735)Cgg>Tgg		family with sequence similarity 154, member A							58	65	62					9																	18928742		2203	4300	6503	SO:0001583	missense	158297							g.chr9:18928742G>A	BC033489	CCDS6487.1, CCDS75819.1, CCDS75820.1	9p22.1	2012-03-23	2008-02-21	2008-02-21	ENSG00000155875	ENSG00000155875			28566	protein-coding gene	gene with protein product			"chromosome 9 open reading frame 138"	C9orf138		12477932	Standard	NM_153707		Approved	MGC35182	uc003zni.2	Q8IYX7	OTTHUMG00000019609	ENST00000380534.4:c.733C>T	9.37:g.18928742G>A	ENSP00000369907:p.Arg245Trp					FAM154A_ENST00000380530.1_3'UTR|FAM154A_ENST00000542071.1_Missense_Mutation_p.R53W	p.R245W	NM_153707.2	NP_714918.2	Q8IYX7	F154A_HUMAN		GBM - Glioblastoma multiforme(50;6.53e-16)	4	1012	-			245					Q5VY58	Missense_Mutation	SNP	ENST00000380534.4	37	c.733C>T	CCDS6487.1	.	.	.	.	.	.	.	.	.	.	G	10.95	1.495368	0.26774	.	.	ENSG00000155875	ENST00000380534;ENST00000542071	T;T	0.17528	2.27;2.28	5.09	1.85	0.25348	.	0.121518	0.36665	N	0.002470	T	0.32010	0.0815	M	0.65975	2.015	0.18873	N	0.999985	D	0.71674	0.998	P	0.59761	0.863	T	0.07673	-1.0760	10	0.62326	D	0.03	-11.0715	11.3821	0.49763	0.0:0.0:0.381:0.619	.	245	Q8IYX7	F154A_HUMAN	W	245;53	ENSP00000369907:R245W;ENSP00000438823:R53W	ENSP00000369907:R245W	R	-	1	2	FAM154A	18918742	0.145000	0.22656	0.195000	0.23364	0.167000	0.22549	0.911000	0.28584	0.647000	0.30713	0.650000	0.86243	CGG		0.532	FAM154A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051811.1	NM_153707		21	92	0	0	0	0.608945	0	21	92					A	18928742	G	A	18928742	3	1	57	1	0	0	0	0	1	0	0	0	5463	1115	39	2	695	2	FAM154A	9	18928742	Missense_Mutation	SNP	G	TCGA-EJ-5508-01A-02D-1576-08		18928742	122284689	26	2947											
ZNF462	58499	broad.mit.edu	37	chr9	109746677	109746677	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggaactggacagccaccttcGggatgagcataaggtactta	12	8	12	9	1	0	1	0	1	0	0	1	4	0	4	2	4	4	2	2	4	4	4			TCGA-EJ-5508-01A-02D-1576-08	TCGA-EJ-5508-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	275b578d-a786-4fdc-a995-5ab0505d68ee	1e2392d3-82f0-4f1e-b949-a0a634c87743	g.chr9:109746677G>C	ENST00000277225.5	+	10	7332	c.7043G>C	c.(7042-7044)cGg>cCg	p.R2348P	ZNF462_ENST00000441147.2_Missense_Mutation_p.R1254P|ZNF462_ENST00000542028.1_Missense_Mutation_p.R305P|RP11-508N12.2_ENST00000439901.1_RNA|ZNF462_ENST00000457913.1_Missense_Mutation_p.R2408P			Q96JM2	ZN462_HUMAN	zinc finger protein 462	2348					chromatin organization (GO:0006325)|negative regulation of DNA binding (GO:0043392)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R2348P(1)		NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						AGCCACCTTCGGGATGAGCAT	0.527																																						ENST00000277225.5																			1	Substitution - Missense(1)	p.R2348P(1)	prostate(1)	NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						c.(7042-7044)cGg>cCg		zinc finger protein 462							93	85	88					9																	109746677		2203	4300	6503	SO:0001583	missense	58499				transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:109746677G>C	AB058706	CCDS35096.1	9q31.3	2008-02-05			ENSG00000148143	ENSG00000148143		"Zinc fingers, C2H2-type"	21684	protein-coding gene	gene with protein product							Standard	NM_021224		Approved	DKFZP762N2316, KIAA1803, Zfp462	uc004bcz.3	Q96JM2	OTTHUMG00000020438	ENST00000277225.5:c.7043G>C	9.37:g.109746677G>C	ENSP00000277225:p.Arg2348Pro					ZNF462_ENST00000441147.2_Missense_Mutation_p.R1254P|ZNF462_ENST00000542028.1_Missense_Mutation_p.R305P|ZNF462_ENST00000457913.1_Missense_Mutation_p.R2408P|RP11-508N12.2_ENST00000439901.1_RNA	p.R2348P			Q96JM2	ZN462_HUMAN			10	7332	+			2348					Q5T0T4|Q8N408	Missense_Mutation	SNP	ENST00000277225.5	37	c.7043G>C	CCDS35096.1	.	.	.	.	.	.	.	.	.	.	G	23.9	4.473653	0.84640	.	.	ENSG00000148143	ENST00000277225;ENST00000457913;ENST00000374686;ENST00000441147;ENST00000542028	T;T;T;T;T	0.34072	1.38;1.38;1.38;1.38;1.38	6.03	6.03	0.97812	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);	0.000000	0.85682	D	0.000000	T	0.70211	0.3198	M	0.91406	3.205	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.70227	0.946;0.968	T	0.75622	-0.3254	10	0.87932	D	0	.	20.5666	0.99351	0.0:0.0:1.0:0.0	.	2408;2348	Q96JM2-3;Q96JM2	.;ZN462_HUMAN	P	2348;2408;1291;1254;305	ENSP00000277225:R2348P;ENSP00000414570:R2408P;ENSP00000363818:R1291P;ENSP00000397306:R1254P;ENSP00000439771:R305P	ENSP00000277225:R2348P	R	+	2	0	ZNF462	108786498	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.263000	0.78421	2.854000	0.98071	0.655000	0.94253	CGG		0.527	ZNF462-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000053532.2	NM_021224		20	104	0	0	0	0.575678	0	20	104					C	109746677	G	C	109746677	3	2	57	1	0	0	0	0	1	0	0	0	17923	1116	39	5	7077	5	ZNF462	9	109746677	Missense_Mutation	SNP	G	TCGA-EJ-5508-01A-02D-1576-08	90817935	109746677	31466754	27	2948											
PRKCQ	5588	broad.mit.edu	37	chr10	6539186	6539186	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	aaaccctcttacttacgtcgGcactggtagccctgtttgtt	7	14	8	12	2	1	0	0	0	1	0	2	0	1	0	2	2	4	4	2	2	4	5			TCGA-EJ-5508-01A-02D-1576-08	TCGA-EJ-5508-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	275b578d-a786-4fdc-a995-5ab0505d68ee	1e2392d3-82f0-4f1e-b949-a0a634c87743	g.chr10:6539186G>A	ENST00000263125.5	-	6	669	c.570C>T	c.(568-570)tgC>tgT	p.C190C	PRKCQ_ENST00000539722.1_Silent_p.C65C|PRKCQ_ENST00000397176.2_Silent_p.C190C	NM_001282644.1|NM_006257.3	NP_001269573.1|NP_006248.1	Q04759	KPCT_HUMAN	protein kinase C, theta	190					apoptotic process (GO:0006915)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|Fc-epsilon receptor signaling pathway (GO:0038095)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|membrane protein ectodomain proteolysis (GO:0006509)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of T cell apoptotic process (GO:0070233)|phototransduction, visible light (GO:0007603)|platelet activation (GO:0030168)|positive regulation of interleukin-17 production (GO:0032740)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of T-helper 17 type immune response (GO:2000318)|positive regulation of T-helper 2 cell activation (GO:2000570)|protein ubiquitination (GO:0016567)|regulation of cell growth (GO:0001558)|regulation of platelet aggregation (GO:0090330)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|regulation of transcription, DNA-templated (GO:0006355)|rhodopsin mediated signaling pathway (GO:0016056)|T cell receptor signaling pathway (GO:0050852)	cytosol (GO:0005829)|immunological synapse (GO:0001772)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(2)	45					Tamoxifen(DB00675)	ACTTACGTCGGCACTGGTAGC	0.378																																					Ovarian(50;572 1126 10530 25349 30594)	ENST00000263125.5																			0				NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(2)	45						c.(568-570)tgC>tgT		protein kinase C, theta							142	134	137					10																	6539186		2203	4300	6503	SO:0001819	synonymous_variant	5588				axon guidance|cellular component disassembly involved in apoptosis|intracellular signal transduction|membrane protein ectodomain proteolysis|platelet activation|regulation of cell growth|T cell receptor signaling pathway	cytosol	ATP binding|metal ion binding|protein binding|protein kinase C activity	g.chr10:6539186G>A	L07032	CCDS7079.1, CCDS55701.1, CCDS60482.1	10p15	2009-07-10			ENSG00000065675	ENSG00000065675	2.7.11.1		9410	protein-coding gene	gene with protein product		600448				8444877	Standard	NM_001282645		Approved		uc001ijj.2	Q04759	OTTHUMG00000017623	ENST00000263125.5:c.570C>T	10.37:g.6539186G>A						PRKCQ_ENST00000539722.1_Silent_p.C65C|PRKCQ_ENST00000397176.2_Silent_p.C190C	p.C190C	NM_006257.3	NP_006248.1	Q04759	KPCT_HUMAN			6	669	-			190					B4DF52|Q14DH6|Q3MJF1|Q64FY5|Q9H508|Q9H549	Silent	SNP	ENST00000263125.5	37	c.570C>T	CCDS7079.1																																																																																				0.378	PRKCQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046665.1	NM_006257		4	307	0	0	0	0.184627	0	4	307					A	6539186	G	A	6539186	2	1	57	1	0	0	0	0	0	0	0	1	12515	1195	42	3		3	PRKCQ	10	6539186	Silent	SNP	G	TCGA-EJ-5508-01A-02D-1576-08		6539186	128995561	28	2949											
KCNMA1	3778	broad.mit.edu	37	chr10	78647070	78647070	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgtttgtcccgggactccCtggacttgggccggttctgt	2	14	13	12	2	2	0	0	0	2	0	4	2	4	2	3	4	0	2	3	4	0	3			TCGA-EJ-5508-01A-02D-1576-08	TCGA-EJ-5508-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	275b578d-a786-4fdc-a995-5ab0505d68ee	1e2392d3-82f0-4f1e-b949-a0a634c87743	g.chr10:78647070C>A	ENST00000286628.8	-	28	3664	c.3665G>T	c.(3664-3666)aGg>aTg	p.R1222M	KCNMA1_ENST00000372440.1_Missense_Mutation_p.R1164M|KCNMA1_ENST00000286627.5_Missense_Mutation_p.R1164M|KCNMA1_ENST00000354353.5_Missense_Mutation_p.R1225M|KCNMA1_ENST00000372443.1_Missense_Mutation_p.R1191M|RP11-443A13.5_ENST00000609102.1_RNA|KCNMA1_ENST00000404771.3_Missense_Mutation_p.R1222M|RP11-443A13.5_ENST00000429850.2_RNA|KCNMA1_ENST00000404857.1_Missense_Mutation_p.R1205M|RP11-443A13.5_ENST00000595702.1_RNA|KCNMA1_ENST00000406533.3_Missense_Mutation_p.R1226M|RP11-443A13.5_ENST00000458661.2_RNA	NM_001161352.1	NP_001154824.1	Q12791	KCMA1_HUMAN	potassium large conductance calcium-activated channel, subfamily M, alpha member 1	1222					blood coagulation (GO:0007596)|cellular potassium ion homeostasis (GO:0030007)|micturition (GO:0060073)|negative regulation of cell volume (GO:0045794)|positive regulation of apoptotic process (GO:0043065)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|response to calcium ion (GO:0051592)|response to carbon monoxide (GO:0034465)|response to hypoxia (GO:0001666)|response to osmotic stress (GO:0006970)|smooth muscle contraction involved in micturition (GO:0060083)|synaptic transmission (GO:0007268)	apical plasma membrane (GO:0016324)|caveola (GO:0005901)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	actin binding (GO:0003779)|calcium-activated potassium channel activity (GO:0015269)|large conductance calcium-activated potassium channel activity (GO:0060072)|metal ion binding (GO:0046872)|voltage-gated potassium channel activity (GO:0005249)	p.R1164M(2)|p.R1226M(2)		breast(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(17)|lung(23)|ovary(2)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	68	all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198)		OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183)		Bendroflumethiazide(DB00436)|Chlorzoxazone(DB00356)|Cromoglicic acid(DB01003)|Diazoxide(DB01119)|Halothane(DB01159)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Miconazole(DB01110)|Procaine(DB00721)	CCGGGACTCCCTGGACTTGGG	0.552																																						ENST00000286627.5																			4	Substitution - Missense(4)	p.R1164M(2)|p.R1226M(2)	prostate(2)|lung(2)	breast(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(17)|lung(23)|ovary(2)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	68						c.(3490-3492)aGg>aTg		potassium large conductance calcium-activated channel, subfamily M, alpha member 1	Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Chlorzoxazone(DB00356)|Cromoglicate(DB01003)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Enflurane(DB00228)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021)						168	157	161					10																	78647070		2203	4300	6503	SO:0001583	missense	3778				cellular potassium ion homeostasis|negative regulation of cell volume|platelet activation|positive regulation of apoptosis|regulation of membrane potential|response to calcium ion|response to carbon monoxide|response to hypoxia|response to osmotic stress|smooth muscle contraction involved in micturition	apical plasma membrane|caveola|integral to membrane|voltage-gated potassium channel complex	actin binding|calcium-activated potassium channel activity|large conductance calcium-activated potassium channel activity|metal ion binding|voltage-gated potassium channel activity	g.chr10:78647070C>A	U11717	CCDS7352.1, CCDS60569.1, CCDS60571.1, CCDS60572.1, CCDS73156.1	10q22	2012-07-05			ENSG00000156113	ENSG00000156113		"Potassium channels", "Voltage-gated ion channels / Potassium channels, calcium-activated"	6284	protein-coding gene	gene with protein product	"BK channel alpha subunit"	600150		SLO		7987297, 16382103	Standard	NM_002247		Approved	KCa1.1, mSLO1	uc001jxn.3	Q12791	OTTHUMG00000018543	ENST00000286628.8:c.3665G>T	10.37:g.78647070C>A	ENSP00000286628:p.Arg1222Met					KCNMA1_ENST00000286628.8_Missense_Mutation_p.R1222M|KCNMA1_ENST00000404771.3_Missense_Mutation_p.R1222M|KCNMA1_ENST00000372440.1_Missense_Mutation_p.R1164M|KCNMA1_ENST00000372443.1_Missense_Mutation_p.R1191M|KCNMA1_ENST00000354353.5_Missense_Mutation_p.R1225M|KCNMA1_ENST00000406533.3_Missense_Mutation_p.R1226M|KCNMA1_ENST00000404857.1_Missense_Mutation_p.R1205M	p.R1164M	NM_002247.3	NP_002238.2	Q12791	KCMA1_HUMAN	OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183)		27	4443	-	all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198)		1222					F8WA96|Q12886|Q12917|Q12921|Q12960|Q13150|Q5JQ23|Q5SQR9|Q96LG8|Q9UBB0|Q9UCX0|Q9UQK6	Missense_Mutation	SNP	ENST00000286628.8	37	c.3491G>T		.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	C|C|C	24.0|24.0|24.0	4.484475|4.484475|4.484475	0.84854|0.84854|0.84854	.|.|.	.|.|.	ENSG00000156113|ENSG00000156113|ENSG00000156113	ENST00000372403|ENST00000372421;ENST00000434208|ENST00000372440;ENST00000372408;ENST00000372437;ENST00000457953;ENST00000404771;ENST00000372443;ENST00000286627;ENST00000286628;ENST00000406533;ENST00000354353;ENST00000404857;ENST00000412708	.|.|D;D;D;D;D;D;D;D;D	.|.|0.87491	.|.|-2.01;-2.26;-1.97;-1.99;-2.03;-2.0;-1.98;-2.0;-2.0	5.21|5.21|5.21	5.21|5.21|5.21	0.72293|0.72293|0.72293	.|.|.	.|.|0.000000	.|.|0.85682	.|.|D	.|.|0.000000	D|D|D	0.87370|0.87370|0.87370	0.6160|0.6160|0.6160	N|N|N	0.08118|0.08118|0.08118	0|0|0	0.80722|0.80722|0.80722	D|D|D	1|1|1	.|.|D;D;D;D;D;D;D;D	.|.|0.89917	.|.|0.997;0.998;0.999;1.0;0.998;0.996;1.0;0.998	.|.|D;D;D;D;D;D;D;D	.|.|0.91635	.|.|0.997;0.994;0.997;0.998;0.995;0.994;0.999;0.994	D|D|D	0.90365|0.90365|0.90365	0.4376|0.4376|0.4376	5|5|10	.|.|0.59425	.|.|D	.|.|0.04	-12.8174|-12.8174|-12.8174	18.7603|18.7603|18.7603	0.91848|0.91848|0.91848	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.|.	.|.|1193;1194;1205;1222;1164;975;1225;1191	.|.|Q12791-4;B7ZMF5;Q12791-2;Q12791;Q12791-5;C9JFZ9;F8WA96;Q5SVJ7	.|.|.;.;.;KCMA1_HUMAN;.;.;.;.	W|H|M	1115|1152;871|1164;1101;1157;1196;1159;1191;1164;1196;1226;1225;1205;975	.|.|ENSP00000361517:R1164M;ENSP00000361485:R1101M;ENSP00000361514:R1157M;ENSP00000396608:R1196M;ENSP00000361520:R1191M;ENSP00000286627:R1164M;ENSP00000385552:R1226M;ENSP00000346321:R1225M;ENSP00000385806:R1205M	.|.|ENSP00000286627:R1164M	G|Q|R	-|-|-	1|3|2	0|2|0	KCNMA1|KCNMA1|KCNMA1	78317076|78317076|78317076	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.996000|0.996000|0.996000	0.88848|0.88848|0.88848	7.466000|7.466000|7.466000	0.80914|0.80914|0.80914	2.429000|2.429000|2.429000	0.82318|0.82318|0.82318	0.460000|0.460000|0.460000	0.39030|0.39030|0.39030	GGG|CAG|AGG		0.552	KCNMA1-009	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000048885.3	NM_002247		13	327	1	0	4.36969e-10	0.435327	5.21935e-10	13	327					A	78647070	C	A	78647070	3	1	57	1	0	0	0	0	1	0	0	0	8073	681	24	5	78	5	KCNMA1	10	78647070	Missense_Mutation	SNP	C	TCGA-EJ-5508-01A-02D-1576-08	72107884	78647070	56887677	29	2950											
FOLR3	2352	broad.mit.edu	37	chr11	71850178	71850178	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gagtgctcacccaacctgggGccctggatccggcaggtatg	7	7	14	13	1	1	0	1	0	0	0	2	2	2	1	4	5	2	3	4	5	2	1			TCGA-EJ-5508-01A-02D-1576-08	TCGA-EJ-5508-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	275b578d-a786-4fdc-a995-5ab0505d68ee	1e2392d3-82f0-4f1e-b949-a0a634c87743	g.chr11:71850178G>T	ENST00000445078.2	+	3	533	c.462G>T	c.(460-462)ggG>ggT	p.G154G	FOLR3_ENST00000442948.2_Silent_p.G113G|FOLR3_ENST00000456237.1_Silent_p.G156G			P41439	FOLR3_HUMAN	folate receptor 3 (gamma)	112					folic acid transport (GO:0015884)	extracellular region (GO:0005576)|extrinsic component of membrane (GO:0019898)|membrane (GO:0016020)	folic acid binding (GO:0005542)	p.G156G(1)		large_intestine(3)|lung(8)|prostate(2)	13					Folic Acid(DB00158)	CCAACCTGGGGCCCTGGATCC	0.562																																						ENST00000445078.2																			1	Substitution - coding silent(1)	p.G156G(1)	prostate(1)	large_intestine(3)|lung(8)|prostate(2)	13						c.(460-462)ggG>ggT		folate receptor 3 (gamma)	Folic Acid(DB00158)						34	39	38					11																	71850178		2200	4293	6493	SO:0001819	synonymous_variant	2352				folic acid transport	extracellular region|extrinsic to membrane|membrane fraction	folic acid binding|receptor activity	g.chr11:71850178G>T	U08471	CCDS73344.1	11q13.4	2012-11-14			ENSG00000110203	ENSG00000110203			3795	protein-coding gene	gene with protein product		602469				8110752	Standard	NM_000804		Approved	FR-G	uc001orx.1	P41439	OTTHUMG00000167870	ENST00000445078.2:c.462G>T	11.37:g.71850178G>T						FOLR3_ENST00000442948.2_Silent_p.G113G|FOLR3_ENST00000456237.1_Silent_p.G156G	p.G154G			P41439	FOLR3_HUMAN			3	533	+			112					J3KQ90|Q05C14	Silent	SNP	ENST00000445078.2	37	c.462G>T																																																																																					0.562	FOLR3-001	NOVEL	upstream_ATG|basic	protein_coding	protein_coding	OTTHUMT00000396739.1	NM_000804		6	48	1	0	2.0095e-06	0.248553	2.30422e-06	6	48					T	71850178	G	T	71850178	2	4	57	1	0	0	0	0	0	0	0	1	5983	1203	42	5		5	FOLR3	11	71850178	Silent	SNP	G	TCGA-EJ-5508-01A-02D-1576-08		71850178	63156338	30	2951											
FKBP4	2288	broad.mit.edu	37	chr12	2912357	2912357	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggagaccatcccactgacaCagagatgaaggaggagcaga	16	3	13	9	0	0	5	0	2	0	3	1	9	1	7	2	3	1	1	2	3	1	0	rs200588430		TCGA-EJ-5508-01A-02D-1576-08	TCGA-EJ-5508-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	275b578d-a786-4fdc-a995-5ab0505d68ee	1e2392d3-82f0-4f1e-b949-a0a634c87743	g.chr12:2912357C>G	ENST00000001008.4	+	10	1500	c.1313C>G	c.(1312-1314)aCa>aGa	p.T438R	RP4-816N1.6_ENST00000547794.1_RNA|RP4-816N1.7_ENST00000547042.1_RNA|RP4-816N1.6_ENST00000547834.1_RNA|RP4-816N1.6_ENST00000552469.1_RNA	NM_002014.3	NP_002005.1	Q02790	FKBP4_HUMAN	FK506 binding protein 4, 59kDa	438					androgen receptor signaling pathway (GO:0030521)|chaperone-mediated protein folding (GO:0061077)|copper ion transport (GO:0006825)|embryo implantation (GO:0007566)|male sex differentiation (GO:0046661)|negative regulation of microtubule polymerization (GO:0031115)|negative regulation of microtubule polymerization or depolymerization (GO:0031111)|negative regulation of neuron projection development (GO:0010977)|prostate gland development (GO:0030850)|protein complex localization (GO:0031503)|protein folding (GO:0006457)|protein peptidyl-prolyl isomerization (GO:0000413)|steroid hormone receptor complex assembly (GO:0006463)	axonal growth cone (GO:0044295)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	ATP binding (GO:0005524)|FK506 binding (GO:0005528)|GTP binding (GO:0005525)|heat shock protein binding (GO:0031072)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|poly(A) RNA binding (GO:0044822)|protein binding, bridging (GO:0030674)	p.T438R(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)|skin(1)	14			OV - Ovarian serous cystadenocarcinoma(31;0.00105)			CCCACTGACACAGAGATGAAG	0.557													C|||	1	0.000199681	0	0	5008	,	,		17380	0		0.001	False		,,,				2504	0					ENST00000001008.4																			1	Substitution - Missense(1)	p.T438R(1)	prostate(1)	breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)|skin(1)	14						c.(1312-1314)aCa>aGa		FK506 binding protein 4, 59kDa	Dimethyl sulfoxide(DB01093)						61	47	52					12																	2912357		2203	4300	6503	SO:0001583	missense	2288				negative regulation of microtubule polymerization or depolymerization|negative regulation of neuron projection development|protein folding	axonal growth cone|cytosol|membrane|microtubule|nucleus	FK506 binding|heat shock protein binding|peptidyl-prolyl cis-trans isomerase activity|protein binding, bridging	g.chr12:2912357C>G	M88279	CCDS8512.1	12p13.33	2013-01-10	2002-08-29		ENSG00000004478	ENSG00000004478		"Tetratricopeptide (TTC) repeat domain containing"	3720	protein-coding gene	gene with protein product		600611	"FK506-binding protein 4 (59kD)"			1279700	Standard	NM_002014		Approved	FKBP59, FKBP52	uc001qkz.3	Q02790	OTTHUMG00000090429	ENST00000001008.4:c.1313C>G	12.37:g.2912357C>G	ENSP00000001008:p.Thr438Arg					RP4-816N1.6_ENST00000547834.1_RNA|RP4-816N1.7_ENST00000547042.1_RNA	p.T438R	NM_002014.3	NP_002005.1	Q02790	FKBP4_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00105)		10	1500	+			438					D3DUQ1|Q9UCP1|Q9UCV7	Missense_Mutation	SNP	ENST00000001008.4	37	c.1313C>G	CCDS8512.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	0.847	-0.739992	0.03088	.	.	ENSG00000004478	ENST00000001008	D	0.81821	-1.54	4.13	2.22	0.28083	.	1.673620	0.02925	N	0.138476	T	0.67239	0.2872	N	0.24115	0.695	0.09310	N	1	B	0.34103	0.437	B	0.28553	0.091	T	0.54840	-0.8233	10	0.19147	T	0.46	0.9965	7.0363	0.24995	0.0:0.7727:0.0:0.2273	.	438	Q02790	FKBP4_HUMAN	R	438	ENSP00000001008:T438R	ENSP00000001008:T438R	T	+	2	0	FKBP4	2782618	0.000000	0.05858	0.017000	0.16124	0.246000	0.25737	0.288000	0.18939	0.378000	0.24764	0.561000	0.74099	ACA		0.557	FKBP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206861.1			2	14	0	0	0	0.115264	0	2	14					G	2912357	C	G	2912357	3	3	57	1	0	0	0	0	1	0	0	0	5910	478	17	5	1351	5	FKBP4	12	2912357	Missense_Mutation	SNP	C	TCGA-EJ-5508-01A-02D-1576-08		2912357	130939538	31	2952											
DNM1L	10059	broad.mit.edu	37	chr12	32871615	32871615	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taatcactaaacttgatctcAtggatgcgggtactgatgcc	11	12	9	9	1	2	2	2	2	1	0	3	3	2	3	1	2	4	1	1	2	4	4			TCGA-EJ-5508-01A-02D-1576-08	TCGA-EJ-5508-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	275b578d-a786-4fdc-a995-5ab0505d68ee	1e2392d3-82f0-4f1e-b949-a0a634c87743	g.chr12:32871615A>G	ENST00000549701.1	+	7	732	c.658A>G	c.(658-660)Atg>Gtg	p.M220V	DNM1L_ENST00000547312.1_Missense_Mutation_p.M220V|DNM1L_ENST00000553257.1_Missense_Mutation_p.M233V|DNM1L_ENST00000452533.2_Missense_Mutation_p.M220V|DNM1L_ENST00000266481.6_Missense_Mutation_p.M220V|DNM1L_ENST00000358214.5_Missense_Mutation_p.M233V|DNM1L_ENST00000381000.4_Missense_Mutation_p.M233V|DNM1L_ENST00000414834.2_Intron			O00429	DNM1L_HUMAN	dynamin 1-like	220	Dynamin-type G.|GTPase domain.				apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|dynamin polymerization involved in mitochondrial fission (GO:0003374)|endocytosis (GO:0006897)|GTP catabolic process (GO:0006184)|membrane fission involved in mitochondrial fission (GO:0090149)|membrane fusion (GO:0061025)|mitochondrial fission (GO:0000266)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|mitochondrion morphogenesis (GO:0070584)|necroptotic process (GO:0070266)|peroxisome fission (GO:0016559)|positive regulation of apoptotic process (GO:0043065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial fission (GO:0090141)|positive regulation of protein secretion (GO:0050714)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|protein homotetramerization (GO:0051289)|protein localization to mitochondrion (GO:0070585)|regulation of mitochondrion organization (GO:0010821)|regulation of peroxisome organization (GO:1900063)|regulation of protein oligomerization (GO:0032459)|release of cytochrome c from mitochondria (GO:0001836)	cell junction (GO:0030054)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|microtubule (GO:0005874)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|perinuclear region of cytoplasm (GO:0048471)|peroxisome (GO:0005777)|protein complex (GO:0043234)|synapse (GO:0045202)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|lipid binding (GO:0008289)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)	p.M220V(1)		cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	23	Lung NSC(5;2.15e-06)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)					ACTTGATCTCATGGATGCGGG	0.388																																						ENST00000452533.2																			1	Substitution - Missense(1)	p.M220V(1)	prostate(1)	cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	23						c.(658-660)Atg>Gtg		dynamin 1-like							171	158	163					12																	32871615		2203	4300	6503	SO:0001583	missense	10059				cellular component disassembly involved in apoptosis|mitochondrial fragmentation involved in apoptosis|mitochondrial membrane organization|positive regulation of mitochondrial fission	cis-Golgi network|cytosol|endomembrane system|endoplasmic reticulum|mitochondrial outer membrane	GTP binding|GTPase activity|ubiquitin protein ligase binding	g.chr12:32871615A>G	AF000430	CCDS8728.1, CCDS8729.1, CCDS8730.1, CCDS61095.1, CCDS61096.1, CCDS61098.1, CCDS61099.1	12p11.21	2012-10-02			ENSG00000087470	ENSG00000087470			2973	protein-coding gene	gene with protein product		603850				9348079, 9731200	Standard	NM_012062		Approved	DRP1, DVLP, HDYNIV, DYMPLE, VPS1	uc001rld.2	O00429	OTTHUMG00000169451	ENST00000549701.1:c.658A>G	12.37:g.32871615A>G	ENSP00000450399:p.Met220Val					DNM1L_ENST00000547312.1_Missense_Mutation_p.M220V|DNM1L_ENST00000414834.2_Intron|DNM1L_ENST00000549701.1_Missense_Mutation_p.M220V|DNM1L_ENST00000358214.5_Missense_Mutation_p.M233V|DNM1L_ENST00000266481.6_Missense_Mutation_p.M220V|DNM1L_ENST00000381000.4_Missense_Mutation_p.M233V|DNM1L_ENST00000553257.1_Missense_Mutation_p.M233V	p.M220V	NM_012062.3|NM_012063.2	NP_036192.2|NP_036193.2	O00429	DNM1L_HUMAN			7	822	+	Lung NSC(5;2.15e-06)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)		220			GTPase domain.		A8K4X9|B4DGC9|B4DSU8|J3KPI2|O14541|O60709|Q59GN9|Q7L6B3|Q8TBT7|Q9BWM1|Q9Y5J2	Missense_Mutation	SNP	ENST00000549701.1	37	c.658A>G	CCDS8729.1	.	.	.	.	.	.	.	.	.	.	A	19.52	3.842484	0.71488	.	.	ENSG00000087470	ENST00000452533;ENST00000411996;ENST00000266479;ENST00000553257;ENST00000549701;ENST00000358214;ENST00000266481;ENST00000547312;ENST00000381000;ENST00000548750	D;D;D;D;D;D;D;D	0.94758	-3.51;-3.51;-3.51;-3.51;-3.51;-3.51;-3.51;-2.89	6.05	6.05	0.98169	Dynamin, GTPase domain (1);	0.097274	0.85682	D	0.000000	D	0.95249	0.8459	L	0.57130	1.785	0.80722	D	1	P;P;P;P;B	0.48230	0.714;0.714;0.834;0.907;0.356	P;B;P;P;B	0.51615	0.512;0.334;0.675;0.512;0.257	D	0.95495	0.8572	10	0.72032	D	0.01	.	16.6	0.84812	1.0:0.0:0.0:0.0	.	273;273;286;273;220	D3DUW6;D3DUW5;F8W8D1;D3DUW7;O00429	.;.;.;.;DNM1L_HUMAN	V	220;286;220;233;220;233;220;220;233;191	ENSP00000415131:M220V;ENSP00000449089:M233V;ENSP00000450399:M220V;ENSP00000350948:M233V;ENSP00000266481:M220V;ENSP00000448610:M220V;ENSP00000370388:M233V;ENSP00000447788:M191V	ENSP00000266479:M220V	M	+	1	0	DNM1L	32762882	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.035000	0.93752	2.323000	0.78572	0.533000	0.62120	ATG		0.388	DNM1L-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000404124.1	NM_012062		14	312	0	0	0	0.457914	0	14	312					G	32871615	A	G	32871615	3	3	57	1	0	0	0	0	1	0	0	0	4671	217	8	4	684	4	DNM1L	12	32871615	Missense_Mutation	SNP	A	TCGA-EJ-5508-01A-02D-1576-08	29959258	32871615	100980280	32	2953											
ABCD2	225	broad.mit.edu	37	chr12	39994384	39994384	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tatacctacctttgtggaatAtaaaacatatgttgaggagg	14	13	9	5	0	0	1	0	1	0	0	0	3	0	3	2	3	3	1	2	3	8	8			TCGA-EJ-5508-01A-02D-1576-08	TCGA-EJ-5508-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	275b578d-a786-4fdc-a995-5ab0505d68ee	1e2392d3-82f0-4f1e-b949-a0a634c87743	g.chr12:39994384A>G	ENST00000308666.3	-	6	1770	c.1635T>C	c.(1633-1635)taT>taC	p.Y545Y		NM_005164.3	NP_005155.1	Q9UBJ2	ABCD2_HUMAN	ATP-binding cassette, sub-family D (ALD), member 2	545	ABC transporter. {ECO:0000255|PROSITE- ProRule:PRU00434}.				fatty acid beta-oxidation (GO:0006635)|positive regulation of fatty acid beta-oxidation (GO:0032000)|transmembrane transport (GO:0055085)|very long-chain fatty acid catabolic process (GO:0042760)|very long-chain fatty acid metabolic process (GO:0000038)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(24)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	52						TTTGTGGAATATAAAACATAT	0.358																																						ENST00000308666.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(24)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	52						c.(1633-1635)taT>taC		ATP-binding cassette, sub-family D (ALD), member 2							76	89	84					12																	39994384		2203	4299	6502	SO:0001819	synonymous_variant	225				fatty acid metabolic process|transport	ATP-binding cassette (ABC) transporter complex|integral to plasma membrane|peroxisomal membrane	ATP binding|ATPase activity|protein binding	g.chr12:39994384A>G	U28150	CCDS8734.1	12q12	2012-05-16			ENSG00000173208	ENSG00000173208		"ATP binding cassette transporters / subfamily D"	66	protein-coding gene	gene with protein product		601081		ALDL1		8577752	Standard	NM_005164		Approved	ALDR, ALDRP	uc001rmb.2	Q9UBJ2	OTTHUMG00000169337	ENST00000308666.3:c.1635T>C	12.37:g.39994384A>G							p.Y545Y	NM_005164.3	NP_005155.1	Q9UBJ2	ABCD2_HUMAN			6	1770	-			545			ABC transporter.		B2RAM3|Q13210|Q2M3H9	Silent	SNP	ENST00000308666.3	37	c.1635T>C	CCDS8734.1																																																																																				0.358	ABCD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403591.1	NM_005164		3	257	0	0	0	0.115264	0	3	257					G	39994384	A	G	39994384	2	3	57	1	0	0	0	0	0	0	0	1	61	456	16	4		4	ABCD2	12	39994384	Silent	SNP	A	TCGA-EJ-5508-01A-02D-1576-08	7122769	39994384	93857511	33	2954											
HAL	3034	broad.mit.edu	37	chr12	96368030	96368030	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ttaaaggtcctcagactccgGgattttggtggatttcttgt	7	16	11	7	1	2	1	1	0	1	1	4	3	4	3	2	4	0	0	2	4	2	5			TCGA-EJ-5508-01A-02D-1576-08	TCGA-EJ-5508-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	275b578d-a786-4fdc-a995-5ab0505d68ee	1e2392d3-82f0-4f1e-b949-a0a634c87743	g.chr12:96368030G>A	ENST00000261208.3	-	21	2322	c.1954C>T	c.(1954-1956)Ccg>Tcg	p.P652S	HAL_ENST00000541929.1_Missense_Mutation_p.P444S|HAL_ENST00000538703.1_3'UTR	NM_002108.3	NP_002099.1	P42357	HUTH_HUMAN	histidine ammonia-lyase	652					biosynthetic process (GO:0009058)|cellular nitrogen compound metabolic process (GO:0034641)|histidine catabolic process (GO:0006548)|histidine catabolic process to glutamate and formamide (GO:0019556)|histidine catabolic process to glutamate and formate (GO:0019557)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	histidine ammonia-lyase activity (GO:0004397)			NS(2)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	34					L-Histidine(DB00117)	TCAGACTCCGGGATTTTGGTG	0.428																																					NSCLC(169;943 2815 23563 30031)	ENST00000261208.3																			0				NS(2)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	34						c.(1954-1956)Ccg>Tcg		histidine ammonia-lyase	L-Histidine(DB00117)						151	150	150					12																	96368030		2203	4300	6503	SO:0001583	missense	3034				biosynthetic process|histidine catabolic process	cytosol	histidine ammonia-lyase activity	g.chr12:96368030G>A		CCDS9058.1, CCDS58264.1, CCDS58265.1	12q22-q24.1	1991-07-12				ENSG00000084110	4.3.1.3		4806	protein-coding gene	gene with protein product		609457		HIS			Standard	NM_002108		Approved		uc001tem.2	P42357	OTTHUMG00000170354	ENST00000261208.3:c.1954C>T	12.37:g.96368030G>A	ENSP00000261208:p.Pro652Ser					HAL_ENST00000541929.1_Missense_Mutation_p.P444S|HAL_ENST00000538703.1_3'UTR	p.P652S	NM_002108.3	NP_002099.1	P42357	HUTH_HUMAN			21	2322	-			652					B4DQC1|B4E0V8|F5GXF2|F5H1U5|Q4VB92|Q4VB93	Missense_Mutation	SNP	ENST00000261208.3	37	c.1954C>T	CCDS9058.1	.	.	.	.	.	.	.	.	.	.	G	6.986	0.552042	0.13374	.	.	ENSG00000084110	ENST00000261208;ENST00000541929	T;T	0.76968	-1.06;-0.08	5.41	3.54	0.40534	.	0.404702	0.25774	N	0.028394	T	0.57257	0.2041	N	0.22421	0.69	0.27472	N	0.952847	B	0.24186	0.099	B	0.17098	0.017	T	0.43327	-0.9398	10	0.02654	T	1	-2.0743	9.2654	0.37639	0.0:0.2983:0.5476:0.1541	.	652	P42357	HUTH_HUMAN	S	652;444	ENSP00000261208:P652S;ENSP00000446364:P444S	ENSP00000261208:P652S	P	-	1	0	HAL	94892161	0.968000	0.33430	0.962000	0.40283	0.019000	0.09904	1.552000	0.36244	0.613000	0.30089	-0.176000	0.13171	CCG		0.428	HAL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408644.1			6	448	0	0	0	0.217242	0	6	448					A	96368030	G	A	96368030	3	1	57	1	0	0	0	0	1	0	0	0	6947	1232	43	3	23	3	HAL	12	96368030	Missense_Mutation	SNP	G	TCGA-EJ-5508-01A-02D-1576-08	56373646	96368030	37483865	34	2955											
TAOK3	51347	broad.mit.edu	37	chr12	118693297	118693297	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atgtccaatttcatgcaaacCaataaaaagttcctcaggat	16	11	5	9	0	2	0	2	0	0	0	4	1	4	1	3	1	2	2	3	1	6	3			TCGA-EJ-5508-01A-02D-1576-08	TCGA-EJ-5508-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	275b578d-a786-4fdc-a995-5ab0505d68ee	1e2392d3-82f0-4f1e-b949-a0a634c87743	g.chr12:118693297C>A	ENST00000392533.3	-	3	566	c.76G>T	c.(76-78)Ggt>Tgt	p.G26C	TAOK3_ENST00000419821.2_Missense_Mutation_p.G26C	NM_016281.3	NP_057365.3	Q9H2K8	TAOK3_HUMAN	TAO kinase 3	26	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|MAPK cascade (GO:0000165)|mitotic G2 DNA damage checkpoint (GO:0007095)|negative regulation of JNK cascade (GO:0046329)|negative regulation of protein kinase activity (GO:0006469)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein kinase inhibitor activity (GO:0004860)|protein serine/threonine kinase activity (GO:0004674)|transferase activity (GO:0016740)			central_nervous_system(1)|lung(5)|skin(1)	7	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TCATGCAAACCAATAAAAAGT	0.403																																						ENST00000392533.3																			0				central_nervous_system(1)|lung(5)|skin(1)	7						c.(76-78)Ggt>Tgt		TAO kinase 3							116	118	118					12																	118693297		2203	4300	6503	SO:0001583	missense	51347				MAPKKK cascade|negative regulation of JNK cascade|positive regulation of JNK cascade|protein autophosphorylation	mitochondrion|plasma membrane	ATP binding|protein kinase inhibitor activity|protein serine/threonine kinase activity	g.chr12:118693297C>A	AF135158	CCDS9188.1	12q	2007-08-03				ENSG00000135090			18133	protein-coding gene	gene with protein product						10559204, 10924369	Standard	NM_016281		Approved	JIK, DPK, MAP3K18	uc001twy.4	Q9H2K8		ENST00000392533.3:c.76G>T	12.37:g.118693297C>A	ENSP00000376317:p.Gly26Cys					TAOK3_ENST00000419821.2_Missense_Mutation_p.G26C	p.G26C	NM_016281.3	NP_057365.3	Q9H2K8	TAOK3_HUMAN			3	566	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		26			Protein kinase.		Q658N1|Q8IUM4|Q9HC79|Q9NZM9|Q9UHG7	Missense_Mutation	SNP	ENST00000392533.3	37	c.76G>T	CCDS9188.1	.	.	.	.	.	.	.	.	.	.	C	26.5	4.741726	0.89573	.	.	ENSG00000135090	ENST00000419821;ENST00000392533;ENST00000535570;ENST00000541186;ENST00000541878;ENST00000542902;ENST00000542532	T;T;T;T;T;T	0.42900	1.86;1.86;1.86;1.86;0.96;0.96	4.69	4.69	0.59074	Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.182239	0.48286	D	0.000200	T	0.52322	0.1727	L	0.33339	1.005	0.80722	D	1	P	0.42649	0.786	P	0.57548	0.823	T	0.56384	-0.7988	10	0.87932	D	0	.	17.8228	0.88655	0.0:1.0:0.0:0.0	.	26	Q9H2K8	TAOK3_HUMAN	C	26	ENSP00000416374:G26C;ENSP00000376317:G26C;ENSP00000443465:G26C;ENSP00000438820:G26C;ENSP00000444057:G26C;ENSP00000440315:G26C	ENSP00000376317:G26C	G	-	1	0	TAOK3	117177680	1.000000	0.71417	0.998000	0.56505	0.988000	0.76386	7.320000	0.79064	2.445000	0.82738	0.655000	0.94253	GGT		0.403	TAOK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401456.2	NM_016281		4	314	1	0	0.014758	0.184627	0.0162716	4	314					A	118693297	C	A	118693297	3	1	57	1	0	0	0	0	1	0	0	0	15546	594	21	5	2696	5	TAOK3	12	118693297	Missense_Mutation	SNP	C	TCGA-EJ-5508-01A-02D-1576-08	22325267	118693297	15158598	35	2956											
ZDHHC20	253832	broad.mit.edu	37	chr13	21987884	21987895	+	In_Frame_Del	DEL	GTTCCTTTTCAG	GTTCCTTTTCAG	-																															gctgaattctttttcataacGttccttttcagaattggaca																										TCGA-EJ-5508-01A-02D-1576-08	TCGA-EJ-5508-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	275b578d-a786-4fdc-a995-5ab0505d68ee	1e2392d3-82f0-4f1e-b949-a0a634c87743	g.chr13:21987884_21987895delGTTCCTTTTCAG	ENST00000400590.3	-	4	464_475	c.266_277delCTGAAAAGGAAC	c.(265-279)tctgaaaaggaacgt>tgt	p.89_93SEKER>C	ZDHHC20_ENST00000415724.1_In_Frame_Del_p.89_93SEKER>C|ZDHHC20_ENST00000542645.1_In_Frame_Del_p.26_30SEKER>C|ZDHHC20_ENST00000422251.1_In_Frame_Del_p.89_93SEKER>C|ZDHHC20_ENST00000320220.9_In_Frame_Del_p.89_93SEKER>C|ZDHHC20_ENST00000382466.3_In_Frame_Del_p.89_93SEKER>C|ZDHHC20_ENST00000494731.1_5'UTR			Q5W0Z9	ZDH20_HUMAN	zinc finger, DHHC-type containing 20	89					protein palmitoylation (GO:0018345)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)	p.K91N(1)		central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)	9		all_cancers(29;8.1e-16)|all_epithelial(30;3.63e-14)|all_lung(29;2.04e-13)|Lung SC(185;0.0367)		all cancers(112;0.000268)|Epithelial(112;0.000735)|OV - Ovarian serous cystadenocarcinoma(117;0.00517)|Lung(94;0.171)		TTTTCATAACGTTCCTTTTCAGAATTGGACAA	0.302																																						ENST00000400590.3																			1	Substitution - Missense(1)	p.K91N(1)	large_intestine(1)	central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)	9						c.(265-279)tgt>t		zinc finger, DHHC-type containing 20																																				SO:0001651	inframe_deletion	253832					integral to membrane	acyltransferase activity|zinc ion binding	g.chr13:21987884_21987895delGTTCCTTTTCAG	AK090979	CCDS45017.1, CCDS73551.1	13q12.11	2008-10-21			ENSG00000180776	ENSG00000180776		"Zinc fingers, DHHC-type"	20749	protein-coding gene	gene with protein product							Standard	NM_153251		Approved	FLJ25952	uc001uoa.2	Q5W0Z9	OTTHUMG00000017410	ENST00000400590.3:c.266_277delCTGAAAAGGAAC	13.37:g.21987884_21987895delGTTCCTTTTCAG	ENSP00000383433:p.Ser89_Arg93delinsCys					ZDHHC20_ENST00000415724.1_In_Frame_Del_p.SEKER89del|ZDHHC20_ENST00000382466.3_In_Frame_Del_p.SEKER89del|ZDHHC20_ENST00000320220.9_In_Frame_Del_p.SEKER89del|ZDHHC20_ENST00000422251.1_In_Frame_Del_p.SEKER89del|ZDHHC20_ENST00000542645.1_In_Frame_Del_p.SEKER26del|ZDHHC20_ENST00000494731.1_5'UTR	p.SEKER89del			Q5W0Z9	ZDH20_HUMAN		all cancers(112;0.000268)|Epithelial(112;0.000735)|OV - Ovarian serous cystadenocarcinoma(117;0.00517)|Lung(94;0.171)	4	464_475	-		all_cancers(29;8.1e-16)|all_epithelial(30;3.63e-14)|all_lung(29;2.04e-13)|Lung SC(185;0.0367)	89					A8MTV9|C9JG20|I6L9D4|Q2TB82|Q6NVU8	In_Frame_Del	DEL	ENST00000400590.3	37	c.266_277delCTGAAAAGGAAC																																																																																					0.302	ZDHHC20-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000045994.1	NM_153251		8	83						8	83	---	---	---	---	-	21987895	GTTCCTTTTCAG	-	21987884	7	5	57	1	0	1	0	1	0	0	0	0	17608	1145	40	0	823	0	ZDHHC20	13	21987884	In_Frame_Del	DEL	GTTCCTTTTCAG	TCGA-EJ-5508-01A-02D-1576-08		21987884	93181994	36	2957											
UGGT2	55757	broad.mit.edu	37	chr13	96579562	96579562	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcctatccattagaaaatcaAttgcattcgtgcgatcattt	12	15	5	9	2	2	1	2	0	0	1	5	2	4	1	2	0	2	1	2	0	5	5	rs540044487	byFrequency	TCGA-EJ-5508-01A-02D-1576-08	TCGA-EJ-5508-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	275b578d-a786-4fdc-a995-5ab0505d68ee	1e2392d3-82f0-4f1e-b949-a0a634c87743	g.chr13:96579562A>G	ENST00000376747.3	-	18	2076	c.2006T>C	c.(2005-2007)aTt>aCt	p.I669T		NM_020121.3	NP_064506.3	Q9NYU1	UGGG2_HUMAN	UDP-glucose glycoprotein glucosyltransferase 2	669					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)|UDP-glucosylation (GO:0097359)	endoplasmic reticulum lumen (GO:0005788)	UDP-glucose:glycoprotein glucosyltransferase activity (GO:0003980)	p.I669T(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(17)|lung(20)|ovary(3)|pancreas(1)|prostate(4)|urinary_tract(2)	60						TAGAAAATCAATTGCATTCGT	0.303													A|||	2	0.000399361	0	0	5008	,	,		14365	0		0	False		,,,				2504	0.002					ENST00000376747.3																			1	Substitution - Missense(1)	p.I669T(1)	prostate(1)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(17)|lung(20)|ovary(3)|pancreas(1)|prostate(4)|urinary_tract(2)	60						c.(2005-2007)aTt>aCt		UDP-glucose glycoprotein glucosyltransferase 2							73	72	73					13																	96579562		2203	4295	6498	SO:0001583	missense	55757				post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|ER-Golgi intermediate compartment	UDP-glucose:glycoprotein glucosyltransferase activity	g.chr13:96579562A>G	AF227906	CCDS9480.1	13q32.1	2009-07-23	2009-07-23	2009-07-23	ENSG00000102595	ENSG00000102595			15664	protein-coding gene	gene with protein product	"UDP-glucose:glycoprotein glucosyltransferase 2"	605898	"UDP-glucose ceramide glucosyltransferase-like 2"	UGCGL2		10694380	Standard	NM_020121		Approved	FLJ11485, HUGT2, FLJ10873, MGC150689, MGC87276, MGC117360	uc001vmt.3	Q9NYU1	OTTHUMG00000017230	ENST00000376747.3:c.2006T>C	13.37:g.96579562A>G	ENSP00000365938:p.Ile669Thr						p.I669T	NM_020121.3	NP_064506.3	Q9NYU1	UGGG2_HUMAN			18	2076	-			669					A6NKL4|Q08AD0|Q5JQR8|Q8N5K0|Q9UFC4	Missense_Mutation	SNP	ENST00000376747.3	37	c.2006T>C	CCDS9480.1	.	.	.	.	.	.	.	.	.	.	A	13.18	2.161198	0.38119	.	.	ENSG00000102595	ENST00000376747	T	0.27104	1.69	5.95	5.95	0.96441	.	0.265265	0.38217	N	0.001774	T	0.33585	0.0868	M	0.74258	2.255	0.80722	D	1	B	0.30584	0.286	B	0.29598	0.104	T	0.10753	-1.0616	10	0.54805	T	0.06	-4.3721	16.4116	0.83717	1.0:0.0:0.0:0.0	.	669	Q9NYU1	UGGG2_HUMAN	T	669	ENSP00000365938:I669T	ENSP00000365938:I669T	I	-	2	0	UGGT2	95377563	0.998000	0.40836	0.867000	0.34043	0.183000	0.23260	8.078000	0.89507	2.276000	0.75962	0.528000	0.53228	ATT		0.303	UGGT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045507.1	NM_020121		6	154	0	0	0	0.248553	0	6	154					G	96579562	A	G	96579562	3	3	57	1	0	0	0	0	1	0	0	0	16939	101	4	4	2632	4	UGGT2	13	96579562	Missense_Mutation	SNP	A	TCGA-EJ-5508-01A-02D-1576-08	74591678	96579562	18590316	37	2958											
RALGAPA1	253959	broad.mit.edu	37	chr14	36039876	36039876	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcacggcttgcatttatagcTgttgctctaaccataatggg	9	13	10	9	1	1	0	0	0	1	0	1	0	1	0	1	2	4	6	1	2	4	7			TCGA-EJ-5508-01A-02D-1576-08	TCGA-EJ-5508-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	275b578d-a786-4fdc-a995-5ab0505d68ee	1e2392d3-82f0-4f1e-b949-a0a634c87743	g.chr14:36039876T>G	ENST00000389698.3	-	38	6315	c.5925A>C	c.(5923-5925)acA>acC	p.T1975T	RALGAPA1_ENST00000382366.3_Silent_p.T1988T|RALGAPA1_ENST00000258840.6_Silent_p.T2022T|RALGAPA1_ENST00000307138.6_Silent_p.T1975T	NM_014990.1	NP_055805.1	Q6GYQ0	RGPA1_HUMAN	Ral GTPase activating protein, alpha subunit 1 (catalytic)	1975	Minimal domain that binds to TCF3/E12. {ECO:0000250}.|Rap-GAP. {ECO:0000255|PROSITE- ProRule:PRU00165}.				activation of Ral GTPase activity (GO:0032859)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein heterodimerization activity (GO:0046982)|Ral GTPase activator activity (GO:0017123)	p.T1975T(2)		breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(7)|large_intestine(14)|lung(21)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						CATTTATAGCTGTTGCTCTAA	0.363																																						ENST00000258840.6																			2	Substitution - coding silent(2)	p.T1975T(2)	prostate(2)	breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(7)|large_intestine(14)|lung(21)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						c.(6064-6066)acA>acC		Ral GTPase activating protein, alpha subunit 1 (catalytic)							54	51	52					14																	36039876		2203	4297	6500	SO:0001819	synonymous_variant	253959				activation of Ral GTPase activity	cytosol|mitochondrion|nucleus	protein heterodimerization activity|Ral GTPase activator activity	g.chr14:36039876T>G	AK126975	CCDS32064.1, CCDS32065.1, CCDS61439.1	14q13.2	2012-01-26	2009-09-09	2009-09-09	ENSG00000174373	ENSG00000174373			17770	protein-coding gene	gene with protein product	"tuberin-like protein 1", "GAP-related interacting protein to E12"	608884	"GTPase activating RANGAP domain-like 1", "GTPase activating Rap/RanGAP domain-like 1"	GARNL1		19520869	Standard	NM_014990		Approved	GRIPE, DKFZp667F074, KIAA0884, Tulip1, RalGAPalpha1	uc001wtj.3	Q6GYQ0	OTTHUMG00000170619	ENST00000389698.3:c.5925A>C	14.37:g.36039876T>G						RALGAPA1_ENST00000389698.3_Silent_p.T1975T|RALGAPA1_ENST00000382366.3_Silent_p.T1988T|RALGAPA1_ENST00000307138.6_Silent_p.T1975T	p.T2022T			Q6GYQ0	RGPA1_HUMAN			39	6456	-			1975			Minimal domain that binds to TCF3/E12 (By similarity).		A6NMA4|B9EK38|C5NU19|O94960|Q6GYP9|Q6ZT23|Q86YF3|Q86YF5|Q8ND69	Silent	SNP	ENST00000389698.3	37	c.6066A>C	CCDS32065.1	.	.	.	.	.	.	.	.	.	.	T	9.573	1.121586	0.20877	.	.	ENSG00000174373	ENST00000554573	.	.	.	5.96	4.81	0.61882	.	.	.	.	.	T	0.65133	0.2662	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.62932	-0.6749	4	.	.	.	-16.1049	12.6772	0.56901	0.1237:0.0:0.0:0.8763	.	.	.	.	P	258	.	.	Q	-	2	0	RALGAPA1	35109627	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.202000	0.42743	1.063000	0.40649	0.533000	0.62120	CAG		0.363	RALGAPA1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000409829.1	XM_210022		4	66	0	0	0	0.217242	0	4	66					G	36039876	T	G	36039876	2	3	57	1	0	0	0	0	0	0	0	1	13013	1567	55	5		5	RALGAPA1	14	36039876	Silent	SNP	T	TCGA-EJ-5508-01A-02D-1576-08		36039876	71309664	38	2959											
FERMT2	10979	broad.mit.edu	37	chr14	53325133	53325133	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagtttgtagaacatctcttCatctaaactctcgttttggt	10	17	6	8	1	4	1	1	0	3	1	6	1	4	1	0	1	2	3	0	1	5	6			TCGA-EJ-5508-01A-02D-1576-08	TCGA-EJ-5508-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	275b578d-a786-4fdc-a995-5ab0505d68ee	1e2392d3-82f0-4f1e-b949-a0a634c87743	g.chr14:53325133C>A	ENST00000395631.2	-	15	2221	c.2005G>T	c.(2005-2007)Gaa>Taa	p.E669*	FERMT2_ENST00000341590.3_Nonsense_Mutation_p.E669*|FERMT2_ENST00000343279.4_Nonsense_Mutation_p.E676*|FERMT2_ENST00000553373.1_Nonsense_Mutation_p.E676*|FERMT2_ENST00000557255.1_5'UTR			Q96AC1	FERM2_HUMAN	fermitin family member 2	669					cell junction assembly (GO:0034329)|cell-matrix adhesion (GO:0007160)|focal adhesion assembly (GO:0048041)|integrin activation (GO:0033622)|integrin-mediated signaling pathway (GO:0007229)|protein localization to membrane (GO:0072657)|regulation of cell shape (GO:0008360)|substrate adhesion-dependent cell spreading (GO:0034446)|transforming growth factor beta receptor signaling pathway (GO:0007179)|Wnt signaling pathway (GO:0016055)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|filamentous actin (GO:0031941)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|stress fiber (GO:0001725)	phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)		ERO1L/FERMT2(2)	NS(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	20	Breast(41;0.0342)					AACATCTCTTCATCTAAACTC	0.363																																						ENST00000395631.2																		ERO1L/FERMT2(2)	0				NS(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	20						c.(2005-2007)Gaa>Taa		fermitin family member 2							224	193	204					14																	53325133		2203	4300	6503	SO:0001587	stop_gained	10979				actin cytoskeleton organization|cell adhesion|cell junction assembly|regulation of cell shape	cell cortex|cytosol|focal adhesion|stress fiber	binding	g.chr14:53325133C>A	Z24725	CCDS9713.1, CCDS45107.1, CCDS45108.1	14q22.1	2013-01-10	2010-06-24	2007-12-14	ENSG00000073712	ENSG00000073712		"Fermitins", "Pleckstrin homology (PH) domain containing"	15767	protein-coding gene	gene with protein product	"kindlin-2"	607746	"pleckstrin homology domain containing, family C (with FERM domain) member 1", "fermitin family homolog 2 (Drosophila)"	PLEKHC1		8175911, 12697302	Standard	NM_006832		Approved	mig-2, KIND2, UNC112B	uc001xac.3	Q96AC1	OTTHUMG00000140309	ENST00000395631.2:c.2005G>T	14.37:g.53325133C>A	ENSP00000378993:p.Glu669*					FERMT2_ENST00000557255.1_5'UTR|FERMT2_ENST00000341590.3_Nonsense_Mutation_p.E669*|FERMT2_ENST00000343279.4_Nonsense_Mutation_p.E676*|FERMT2_ENST00000553373.1_Nonsense_Mutation_p.E676*	p.E669*			Q96AC1	FERM2_HUMAN			15	2221	-	Breast(41;0.0342)		669					B5TJY2|Q14840|Q86TY7	Nonsense_Mutation	SNP	ENST00000395631.2	37	c.2005G>T	CCDS9713.1	.	.	.	.	.	.	.	.	.	.	C	37	6.143909	0.97320	.	.	ENSG00000073712	ENST00000395631;ENST00000341590;ENST00000554152;ENST00000343279;ENST00000553373	.	.	.	6.16	6.16	0.99307	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	.	20.8598	0.99761	0.0:1.0:0.0:0.0	.	.	.	.	X	669;669;629;676;676	.	ENSP00000340391:E669X	E	-	1	0	FERMT2	52394883	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.796000	0.85898	2.937000	0.99478	0.650000	0.86243	GAA		0.363	FERMT2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276907.2	NM_006832		4	203	1	0	0.150653	0.150653	0.159953	4	203					A	53325133	C	A	53325133	4	1	57	1	0	0	0	0	0	1	0	0	5818	835	29	5	41	5	FERMT2	14	53325133	Nonsense_Mutation	SNP	C	TCGA-EJ-5508-01A-02D-1576-08	17285257	53325133	54024407	39	2960											
C14orf149	112849	broad.mit.edu	37	chr14	59942813	59942813	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cattacagttttaatacctgTtcatctgcaaaaacacaaat	16	13	3	9	0	2	0	1	0	1	0	2	0	2	0	1	0	4	3	1	0	6	5			TCGA-EJ-5508-01A-02D-1576-08	TCGA-EJ-5508-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	275b578d-a786-4fdc-a995-5ab0505d68ee	1e2392d3-82f0-4f1e-b949-a0a634c87743	g.chr14:59942813T>G	ENST00000247194.4	-	3	911	c.798A>C	c.(796-798)gaA>gaC	p.E266D	L3HYPDH_ENST00000487285.1_Missense_Mutation_p.E95D|L3HYPDH_ENST00000543619.1_5'Flank	NM_144581.1	NP_653182.1	Q96EM0	T3HPD_HUMAN	L-3-hydroxyproline dehydratase (trans-)	266					metabolic process (GO:0008152)		hydro-lyase activity (GO:0016836)|trans-L-3-hydroxyproline dehydratase activity (GO:0050346)	p.E266D(1)								L-Proline(DB00172)	TTAATACCTGTTCATCTGCAA	0.348																																						ENST00000247194.4																			1	Substitution - Missense(1)	p.E266D(1)	prostate(1)								c.(796-798)gaA>gaC		L-3-hydroxyproline dehydratase (trans-)							139	147	144					14																	59942813		2203	4300	6503	SO:0001583	missense	112849							g.chr14:59942813T>G	AI762327	CCDS9739.1	14q23.1	2012-08-15	2012-08-15	2012-08-15	ENSG00000126790	ENSG00000126790	4.2.1.77		20488	protein-coding gene	gene with protein product	"trans-L-3-hydroxyproline dehydratase"	614811	"chromosome 14 open reading frame 149"	C14orf149		22528483	Standard	NM_144581		Approved	FLJ25436	uc001xee.1	Q96EM0	OTTHUMG00000028941	ENST00000247194.4:c.798A>C	14.37:g.59942813T>G	ENSP00000247194:p.Glu266Asp					L3HYPDH_ENST00000487285.1_Missense_Mutation_p.E95D	p.E266D	NM_144581.1	NP_653182.1					3	911	-								Q96LJ5	Missense_Mutation	SNP	ENST00000247194.4	37	c.798A>C	CCDS9739.1	.	.	.	.	.	.	.	.	.	.	T	12.06	1.823609	0.32237	.	.	ENSG00000126790	ENST00000247194;ENST00000487285;ENST00000481608	T;T;T	0.16597	2.33;2.33;2.33	5.57	-0.247	0.13019	.	0.391047	0.29653	N	0.011551	T	0.08802	0.0218	N	0.24115	0.695	0.34015	D	0.651973	B	0.06786	0.001	B	0.09377	0.004	T	0.31336	-0.9947	10	0.18710	T	0.47	.	7.7321	0.28793	0.0:0.1375:0.484:0.3785	.	266	Q96EM0	PRCM_HUMAN	D	266;95;95	ENSP00000247194:E266D;ENSP00000431608:E95D;ENSP00000423874:E95D	ENSP00000247194:E266D	E	-	3	2	C14orf149	59012566	0.653000	0.27358	0.952000	0.39060	0.893000	0.52053	-0.333000	0.07894	0.020000	0.15106	-0.435000	0.05868	GAA		0.348	L3HYPDH-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000072254.5	NM_144581		8	362	0	0	0	0.307466	0	8	362					G	59942813	T	G	59942813	3	3	57	1	0	0	0	0	1	0	0	0	1752	1722	60	5	278	5	C14orf149	14	59942813	Missense_Mutation	SNP	T	TCGA-EJ-5508-01A-02D-1576-08	6617680	59942813	47406727	40	2961											
JMJD7-PLA2G4B	100137049	broad.mit.edu	37	chr15	42133437	42133437	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctctttccagggctgaccGtggcgagtggctcgtcagca	5	9	15	12	3	2	1	1	1	1	0	4	2	3	1	2	4	1	4	2	4	0	1	rs201289979		TCGA-EJ-5508-01A-02D-1576-08	TCGA-EJ-5508-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	275b578d-a786-4fdc-a995-5ab0505d68ee	1e2392d3-82f0-4f1e-b949-a0a634c87743	g.chr15:42133437G>A	ENST00000452633.1	+	7	753	c.401G>A	c.(400-402)cGt>cAt	p.R134H	JMJD7-PLA2G4B_ENST00000382448.4_Missense_Mutation_p.R365H|PLA2G4B_ENST00000542534.2_Missense_Mutation_p.R365H|JMJD7-PLA2G4B_ENST00000342159.4_Missense_Mutation_p.R365H|PLA2G4B_ENST00000458483.1_Missense_Mutation_p.R134H			P0C869	PA24B_HUMAN	phospholipase A2, group IVB (cytosolic)	134					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|arachidonic acid metabolic process (GO:0019369)|calcium-mediated signaling (GO:0019722)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|glycerophospholipid biosynthetic process (GO:0046474)|glycerophospholipid catabolic process (GO:0046475)|inflammatory response (GO:0006954)|parturition (GO:0007567)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|endosome (GO:0005768)|extracellular region (GO:0005576)|mitochondrial inner membrane (GO:0005743)	calcium ion binding (GO:0005509)|calcium-dependent phospholipase A2 activity (GO:0047498)|calcium-dependent phospholipid binding (GO:0005544)|lysophospholipase activity (GO:0004622)	p.R365H(1)					all_cancers(109;1.84e-13)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)		all cancers(2;1.08e-30)|Epithelial(2;1.43e-22)|OV - Ovarian serous cystadenocarcinoma(18;1.13e-17)|GBM - Glioblastoma multiforme(94;9.77e-07)|Colorectal(2;0.0129)|COAD - Colon adenocarcinoma(120;0.0371)		AGGGCTGACCGTGGCGAGTGG	0.652													g|||	1	0.000199681	0	0	5008	,	,		13675	0.001		0	False		,,,				2504	0					ENST00000382448.4																			1	Substitution - Missense(1)	p.R365H(1)	prostate(1)	endometrium(3)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(3)|skin(1)|soft_tissue(1)|urinary_tract(2)	25						c.(1093-1095)cGt>cAt									83	99	94					15																	42133437		2203	4300	6503	SO:0001583	missense	0				arachidonic acid metabolic process|calcium-mediated signaling|glycerophospholipid catabolic process|inflammatory response|parturition	cytosol|early endosome membrane|extracellular region|mitochondrial membrane	calcium ion binding|calcium-dependent phospholipase A2 activity|calcium-dependent phospholipid binding|lysophospholipase activity	g.chr15:42133437G>A	AF065215	CCDS45241.1	15q11.2-q21.3	2010-08-17			ENSG00000243708	ENSG00000243708	3.1.1.4		9036	protein-coding gene	gene with protein product		606088				9705332	Standard	NM_001114633		Approved	cPLA2-beta, HsT16992		P0C869	OTTHUMG00000156809	ENST00000452633.1:c.401G>A	15.37:g.42133437G>A	ENSP00000396045:p.Arg134His					JMJD7-PLA2G4B_ENST00000458483.1_Missense_Mutation_p.R134H|PLA2G4B_ENST00000452633.1_Missense_Mutation_p.R134H|JMJD7-PLA2G4B_ENST00000342159.4_Missense_Mutation_p.R365H	p.R365H	NM_005090.3	NP_005081.1	P0C869	PA24B_HUMAN			11	1103	+			134			PLA2c.		B4DRT9|O95712|Q19KD5|Q19KD6|Q59GF9|Q8TB10|Q9UKV7	Missense_Mutation	SNP	ENST00000452633.1	37	c.1094G>A	CCDS45241.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	.	7.013	0.557157	0.13436	.	.	ENSG00000168970;ENSG00000168970;ENSG00000168970;ENSG00000243708	ENST00000382448;ENST00000342159;ENST00000458483;ENST00000452633	T;T;T;T	0.01527	5.11;4.8;5.03;5.03	4.28	3.37	0.38596	.	1.124660	0.06542	N	0.743360	T	0.01558	0.0050	N	0.24115	0.695	0.09310	N	1	B;P;P	0.49358	0.05;0.871;0.923	B;B;B	0.38562	0.005;0.191;0.276	T	0.42799	-0.9430	10	0.15066	T	0.55	-10.5375	8.0847	0.30765	0.1072:0.0:0.8928:0.0	.	134;365;365	P0C869;P0C869-7;P0C869-6	PA24B_HUMAN;.;.	H	365;365;134;134	ENSP00000371886:R365H;ENSP00000342785:R365H;ENSP00000416610:R134H;ENSP00000396045:R134H	ENSP00000342785:R365H	R	+	2	0	JMJD7-PLA2G4B;PLA2G4B	39920729	0.980000	0.34600	0.022000	0.16811	0.009000	0.06853	2.018000	0.40991	1.402000	0.46780	0.655000	0.94253	CGT		0.652	PLA2G4B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000345969.1	NM_001114633		25	197	0	0	0	0.740014	0	25	197					A	42133437	G	A	42133437	3	1	57	1	0	0	0	0	1	0	0	0	7955	1145	40	1	1136	1	JMJD7-PLA2G4B	15	42133437	Missense_Mutation	SNP	G	TCGA-EJ-5508-01A-02D-1576-08		42133437	60397955	41	2962											
MAP1A	4130	broad.mit.edu	37	chr15	43821219	43821219	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagtcagattctgatgtcccGccagaaactgaggagtgtcc	10	9	11	11	1	2	4	1	2	1	2	4	5	4	5	3	1	1	0	3	1	1	1			TCGA-EJ-5508-01A-02D-1576-08	TCGA-EJ-5508-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	275b578d-a786-4fdc-a995-5ab0505d68ee	1e2392d3-82f0-4f1e-b949-a0a634c87743	g.chr15:43821219G>A	ENST00000300231.5	+	4	7998	c.7548G>A	c.(7546-7548)ccG>ccA	p.P2516P	MAP1A_ENST00000399453.1_Silent_p.P2516P|MAP1A_ENST00000382031.1_Silent_p.P2754P			P78559	MAP1A_HUMAN	microtubule-associated protein 1A	2516					microtubule cytoskeleton organization (GO:0000226)|sensory perception of sound (GO:0007605)	cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)	structural molecule activity (GO:0005198)			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	CTGATGTCCCGCCAGAAACTG	0.592																																						ENST00000382031.1																			0				breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66						c.(8260-8262)ccG>ccA		microtubule-associated protein 1A	Estramustine(DB01196)						97	100	99					15																	43821219		2023	4184	6207	SO:0001819	synonymous_variant	4130					cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity	g.chr15:43821219G>A	U38292	CCDS42031.1	15q15.3	2006-06-15			ENSG00000166963	ENSG00000166963			6835	protein-coding gene	gene with protein product		600178		MAP1L		7806212, 7629894	Standard	XM_005254385		Approved		uc001zrt.3	P78559	OTTHUMG00000059756	ENST00000300231.5:c.7548G>A	15.37:g.43821219G>A						MAP1A_ENST00000399453.1_Silent_p.P2516P|MAP1A_ENST00000300231.5_Silent_p.P2516P	p.P2754P			P78559	MAP1A_HUMAN		GBM - Glioblastoma multiforme(94;3.05e-06)	5	8293	+		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)	2516					O95643|Q12973|Q15882|Q9UJT4	Silent	SNP	ENST00000300231.5	37	c.8262G>A	CCDS42031.1																																																																																				0.592	MAP1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000132894.5	NM_002373		4	208	0	0	0	0.184627	0	4	208					A	43821219	G	A	43821219	2	1	57	1	0	0	0	0	0	0	0	1	9227	1074	38	1		1	MAP1A	15	43821219	Silent	SNP	G	TCGA-EJ-5508-01A-02D-1576-08	1687782	43821219	58710173	42	2963											
WDR72	256764	broad.mit.edu	37	chr15	54006701	54006701	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctactgataccaccaagagaGaatcttctgtgaaaataata	17	10	6	8	0	2	4	0	2	2	2	2	5	2	4	2	0	2	0	2	0	8	5			TCGA-EJ-5508-01A-02D-1576-08	TCGA-EJ-5508-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	275b578d-a786-4fdc-a995-5ab0505d68ee	1e2392d3-82f0-4f1e-b949-a0a634c87743	g.chr15:54006701G>T	ENST00000396328.1	-	6	760	c.521C>A	c.(520-522)tCt>tAt	p.S174Y	WDR72_ENST00000557913.1_Missense_Mutation_p.S173Y|WDR72_ENST00000559418.1_Missense_Mutation_p.S174Y|WDR72_ENST00000360509.5_Missense_Mutation_p.S174Y	NM_001277176.1|NM_182758.2	NP_001264105.1|NP_877435.3	Q3MJ13	WDR72_HUMAN	WD repeat domain 72	174								p.S174Y(1)		NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	71				all cancers(107;0.0511)		CACCAAGAGAGAATCTTCTGT	0.383																																						ENST00000396328.1																			1	Substitution - Missense(1)	p.S174Y(1)	prostate(1)	NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	71						c.(520-522)tCt>tAt		WD repeat domain 72							85	84	85					15																	54006701		2194	4293	6487	SO:0001583	missense	256764							g.chr15:54006701G>T	BX537884	CCDS10151.1, CCDS73730.1	15q21.3	2013-01-09			ENSG00000166415	ENSG00000166415		"WD repeat domain containing"	26790	protein-coding gene	gene with protein product		613214					Standard	NM_182758		Approved	FLJ38736	uc002acj.2	Q3MJ13	OTTHUMG00000131939	ENST00000396328.1:c.521C>A	15.37:g.54006701G>T	ENSP00000379619:p.Ser174Tyr					WDR72_ENST00000559418.1_Missense_Mutation_p.S174Y|WDR72_ENST00000360509.5_Missense_Mutation_p.S174Y|WDR72_ENST00000557913.1_Missense_Mutation_p.S173Y	p.S174Y	NM_001277176.1|NM_182758.2	NP_001264105.1|NP_877435.3	Q3MJ13	WDR72_HUMAN		all cancers(107;0.0511)	6	760	-			174					Q7Z3I3|Q8N8X2	Missense_Mutation	SNP	ENST00000396328.1	37	c.521C>A	CCDS10151.1	.	.	.	.	.	.	.	.	.	.	G	19.53	3.844588	0.71488	.	.	ENSG00000166415	ENST00000396328;ENST00000360509	T;T	0.01221	5.15;5.15	5.87	5.87	0.94306	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.64402	D	0.000001	T	0.07369	0.0186	M	0.63428	1.95	0.42862	D	0.994118	D	0.89917	1.0	D	0.87578	0.998	T	0.52087	-0.8622	10	0.20519	T	0.43	.	19.2063	0.93732	0.0:0.0:1.0:0.0	.	174	Q3MJ13	WDR72_HUMAN	Y	174	ENSP00000379619:S174Y;ENSP00000353699:S174Y	ENSP00000353699:S174Y	S	-	2	0	WDR72	51793993	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	4.705000	0.61838	2.785000	0.95823	0.655000	0.94253	TCT		0.383	WDR72-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254893.2	NM_182758		14	119	1	0	1.15088e-07	0.500413	1.33751e-07	14	119					T	54006701	G	T	54006701	3	4	57	1	0	0	0	0	1	0	0	0	17319	942	33	5	2847	5	WDR72	15	54006701	Missense_Mutation	SNP	G	TCGA-EJ-5508-01A-02D-1576-08	10185482	54006701	48524691	43	2964											
AQP9	366	broad.mit.edu	37	chr15	58465386	58465386	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctttgtgggggctgcaaccGtctttggcatttactatggt	5	15	12	9	1	1	0	0	0	1	0	1	0	1	0	2	4	3	3	2	4	3	5	rs200107166	byFrequency	TCGA-EJ-5508-01A-02D-1576-08	TCGA-EJ-5508-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	275b578d-a786-4fdc-a995-5ab0505d68ee	1e2392d3-82f0-4f1e-b949-a0a634c87743	g.chr15:58465386G>A	ENST00000219919.4	+	3	728	c.358G>A	c.(358-360)Gtc>Atc	p.V120I	AQP9_ENST00000558772.1_Missense_Mutation_p.V55I|AQP9_ENST00000536493.1_Missense_Mutation_p.V120I|ALDH1A2_ENST00000558231.1_Intron	NM_020980.3	NP_066190.2	O43315	AQP9_HUMAN	aquaporin 9	120					amine transport (GO:0015837)|canalicular bile acid transport (GO:0015722)|carboxylic acid transport (GO:0046942)|cellular response to cAMP (GO:0071320)|excretion (GO:0007588)|glycerol transport (GO:0015793)|immune response (GO:0006955)|metabolic process (GO:0008152)|polyol transport (GO:0015791)|purine nucleobase transport (GO:0006863)|pyrimidine nucleobase transport (GO:0015855)|pyrimidine-containing compound transmembrane transport (GO:0072531)|response to mercury ion (GO:0046689)|response to organic substance (GO:0010033)|response to osmotic stress (GO:0006970)|transmembrane transport (GO:0055085)|transport (GO:0006810)|water homeostasis (GO:0030104)|water transport (GO:0006833)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	amine transmembrane transporter activity (GO:0005275)|carboxylic acid transmembrane transporter activity (GO:0046943)|glycerol channel activity (GO:0015254)|polyol transmembrane transporter activity (GO:0015166)|porin activity (GO:0015288)|purine nucleobase transmembrane transporter activity (GO:0005345)|pyrimidine nucleobase transmembrane transporter activity (GO:0005350)|water channel activity (GO:0015250)|water transmembrane transporter activity (GO:0005372)	p.V120I(1)		endometrium(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)	21				GBM - Glioblastoma multiforme(80;0.16)		GGCTGCAACCGTCTTTGGCAT	0.463													G|||	2	0.000399361	0.0015	0	5008	,	,		19261	0		0	False		,,,				2504	0					ENST00000219919.4																			1	Substitution - Missense(1)	p.V120I(1)	prostate(1)	endometrium(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)	21						c.(358-360)Gtc>Atc		aquaporin 9							136	141	139					15																	58465386		2192	4292	6484	SO:0001583	missense	366				cellular response to cAMP|excretion|immune response|metabolic process|response to mercury ion|response to osmotic stress|water homeostasis	integral to plasma membrane|intracellular membrane-bounded organelle	amine transmembrane transporter activity|carboxylic acid transmembrane transporter activity|glycerol channel activity|porin activity|purine base transmembrane transporter activity|pyrimidine base transmembrane transporter activity|water channel activity	g.chr15:58465386G>A	AF016495	CCDS10165.1	15q	2005-09-20			ENSG00000103569	ENSG00000103569		"Ion channels / Aquaporins"	643	protein-coding gene	gene with protein product		602914					Standard	NM_020980		Approved	SSC1, HsT17287	uc002aez.2	O43315	OTTHUMG00000132631	ENST00000219919.4:c.358G>A	15.37:g.58465386G>A	ENSP00000219919:p.Val120Ile					AQP9_ENST00000558772.1_Missense_Mutation_p.V55I|ALDH1A2_ENST00000558231.1_Intron|AQP9_ENST00000536493.1_Missense_Mutation_p.V120I	p.V120I	NM_020980.3	NP_066190.2	O43315	AQP9_HUMAN		GBM - Glioblastoma multiforme(80;0.16)	3	728	+			120					Q9NP32	Missense_Mutation	SNP	ENST00000219919.4	37	c.358G>A	CCDS10165.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	0.390	-0.923930	0.02377	.	.	ENSG00000103569	ENST00000219919;ENST00000536493	D;D	0.86297	-2.1;-2.1	5.13	0.98	0.19750	Aquaporin-like (2);	0.396309	0.23973	N	0.042758	T	0.79986	0.4541	L	0.33137	0.985	0.35701	D	0.815628	B	0.16802	0.019	B	0.25759	0.063	T	0.71286	-0.4638	10	0.22109	T	0.4	.	13.9603	0.64175	0.1058:0.2398:0.6544:0.0	.	120	O43315	AQP9_HUMAN	I	120	ENSP00000219919:V120I;ENSP00000441390:V120I	ENSP00000219919:V120I	V	+	1	0	AQP9	56252678	1.000000	0.71417	0.122000	0.21767	0.276000	0.26787	3.777000	0.55364	0.027000	0.15297	-0.228000	0.12330	GTC		0.463	AQP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255878.2	NM_020980		8	346	0	0	0	0.27861	0	8	346					A	58465386	G	A	58465386	3	1	57	1	0	0	0	0	1	0	0	0	833	1145	40	1	368	1	AQP9	15	58465386	Missense_Mutation	SNP	G	TCGA-EJ-5508-01A-02D-1576-08	4458685	58465386	44066006	44	2965											
ISLR2	57611	broad.mit.edu	37	chr15	74426317	74426317	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaagggccggggcaacagcGtcctgccttccaaacccgag	9	4	12	16	3	0	0	0	0	0	0	2	1	2	0	6	3	4	1	6	3	3	1			TCGA-EJ-5508-01A-02D-1576-08	TCGA-EJ-5508-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	275b578d-a786-4fdc-a995-5ab0505d68ee	1e2392d3-82f0-4f1e-b949-a0a634c87743	g.chr15:74426317G>A	ENST00000361742.3	+	4	1991	c.1222G>A	c.(1222-1224)Gtc>Atc	p.V408I	ISLR2_ENST00000565540.1_Missense_Mutation_p.V408I|ISLR2_ENST00000561975.1_Intron|ISLR2_ENST00000565159.1_Missense_Mutation_p.V408I|ISLR2_ENST00000435464.1_Missense_Mutation_p.V408I|ISLR2_ENST00000453268.2_Missense_Mutation_p.V408I|ISLR2_ENST00000419208.1_Missense_Mutation_p.V408I|ISLR2_ENST00000445793.1_Missense_Mutation_p.V408I	NM_001130136.1|NM_020851.2	NP_001123608.1|NP_065902.1	Q6UXK2	ISLR2_HUMAN	immunoglobulin superfamily containing leucine-rich repeat 2	408					positive regulation of axon extension (GO:0045773)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.V408I(1)		breast(3)|endometrium(6)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	36						GGGCAACAGCGTCCTGCCTTC	0.662																																						ENST00000361742.3																			1	Substitution - Missense(1)	p.V408I(1)	prostate(1)	breast(3)|endometrium(6)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	36						c.(1222-1224)Gtc>Atc		immunoglobulin superfamily containing leucine-rich repeat 2							16	17	17					15																	74426317		2194	4293	6487	SO:0001583	missense	57611				positive regulation of axon extension	cell surface|integral to membrane|plasma membrane		g.chr15:74426317G>A		CCDS10259.1	15q24.1	2013-01-11			ENSG00000167178	ENSG00000167178		"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	29286	protein-coding gene	gene with protein product		614179				10819331, 12975309	Standard	NM_001130136		Approved	KIAA1465	uc010bjf.3	Q6UXK2	OTTHUMG00000137624	ENST00000361742.3:c.1222G>A	15.37:g.74426317G>A	ENSP00000355402:p.Val408Ile					ISLR2_ENST00000561975.1_Intron|ISLR2_ENST00000453268.2_Missense_Mutation_p.V408I|ISLR2_ENST00000445793.1_Missense_Mutation_p.V408I|ISLR2_ENST00000565540.1_Missense_Mutation_p.V408I|ISLR2_ENST00000419208.1_Missense_Mutation_p.V408I|ISLR2_ENST00000565159.1_Missense_Mutation_p.V408I|ISLR2_ENST00000435464.1_Missense_Mutation_p.V408I	p.V408I	NM_001130136.1|NM_020851.2	NP_001123608.1|NP_065902.1	Q6UXK2	ISLR2_HUMAN			4	1991	+			408					A8K352|Q9P263	Missense_Mutation	SNP	ENST00000361742.3	37	c.1222G>A	CCDS10259.1	.	.	.	.	.	.	.	.	.	.	G	15.77	2.931156	0.52866	.	.	ENSG00000167178	ENST00000445793;ENST00000361742;ENST00000435464;ENST00000453268;ENST00000419208	T;T;T;T;T	0.57752	0.38;0.38;0.38;0.38;0.38	4.52	4.52	0.55395	.	0.073296	0.52532	D	0.000066	T	0.43612	0.1255	L	0.27053	0.805	0.46954	D	0.999264	D	0.59767	0.986	B	0.43155	0.41	T	0.49698	-0.8912	10	0.51188	T	0.08	.	16.8231	0.85923	0.0:0.0:1.0:0.0	.	408	Q6UXK2	ISLR2_HUMAN	I	408	ENSP00000403244:V408I;ENSP00000355402:V408I;ENSP00000411443:V408I;ENSP00000411834:V408I;ENSP00000408872:V408I	ENSP00000355402:V408I	V	+	1	0	ISLR2	72213370	1.000000	0.71417	0.820000	0.32676	0.905000	0.53344	4.923000	0.63412	2.077000	0.62373	0.313000	0.20887	GTC		0.662	ISLR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269046.1	NM_020851		3	19	0	0	0	0.115264	0	3	19					A	74426317	G	A	74426317	3	1	57	1	0	0	0	0	1	0	0	0	7859	1145	40	1	1224	1	ISLR2	15	74426317	Missense_Mutation	SNP	G	TCGA-EJ-5508-01A-02D-1576-08	15960931	74426317	28105075	45	2966											
ESCO1	114799	broad.mit.edu	37	chr18	19154390	19154390	+	Nonsense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aacttgaccctgaatttctcTactgcgtaacgaccttcttg	9	14	6	12	2	2	2	0	2	2	0	3	3	2	2	2	0	4	1	2	0	4	6			TCGA-EJ-5508-01A-02D-1576-08	TCGA-EJ-5508-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	275b578d-a786-4fdc-a995-5ab0505d68ee	1e2392d3-82f0-4f1e-b949-a0a634c87743	g.chr18:19154390T>A	ENST00000269214.5	-	4	1352	c.415A>T	c.(415-417)Aga>Tga	p.R139*		NM_052911.2	NP_443143.2	Q5FWF5	ESCO1_HUMAN	establishment of sister chromatid cohesion N-acetyltransferase 1	139					mitotic cell cycle (GO:0000278)|post-translational protein acetylation (GO:0034421)|regulation of DNA replication (GO:0006275)|sister chromatid cohesion (GO:0007062)	chromatin (GO:0000785)|nucleoplasm (GO:0005654)	metal ion binding (GO:0046872)|transferase activity, transferring acyl groups (GO:0016746)	p.R139*(1)		breast(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(10)|prostate(3)|upper_aerodigestive_tract(1)	35						TGAATTTCTCTACTGCGTAAC	0.373																																						ENST00000269214.5																			1	Substitution - Nonsense(1)	p.R139*(1)	prostate(1)	breast(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(10)|prostate(3)|upper_aerodigestive_tract(1)	35						c.(415-417)Aga>Tga		establishment of sister chromatid cohesion N-acetyltransferase 1							277	273	274					18																	19154390		2203	4300	6503	SO:0001587	stop_gained	114799				cell cycle|post-translational protein acetylation|regulation of DNA replication	chromatin|nucleus	acyltransferase activity|metal ion binding	g.chr18:19154390T>A	AL832041	CCDS32800.1	18q11.2	2013-05-02	2013-05-02		ENSG00000141446	ENSG00000141446			24645	protein-coding gene	gene with protein product		609674	"establishment of cohesion 1 homolog 1 (S. cerevisiae)"			11572484, 14576321, 15958495	Standard	NM_052911		Approved	ESO1, EFO1, KIAA1911	uc002kth.1	Q5FWF5		ENST00000269214.5:c.415A>T	18.37:g.19154390T>A	ENSP00000269214:p.Arg139*						p.R139*	NM_052911.2	NP_443143.2	Q5FWF5	ESCO1_HUMAN			4	1352	-			139					B0YJ11|B0YJ12|Q69YG4|Q69YS3|Q6IMD7|Q8N3Z5|Q8NBG2|Q96PX7	Nonsense_Mutation	SNP	ENST00000269214.5	37	c.415A>T	CCDS32800.1	.	.	.	.	.	.	.	.	.	.	T	44	10.897345	0.99485	.	.	ENSG00000141446	ENST00000269214;ENST00000383276	.	.	.	6.17	3.63	0.41609	.	0.000000	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-23.7538	7.4502	0.27234	0.0:0.0708:0.2432:0.686	.	.	.	.	X	139	.	ENSP00000269214:R139X	R	-	1	2	ESCO1	17408388	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	1.946000	0.40283	2.371000	0.80710	0.533000	0.62120	AGA		0.373	ESCO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443942.1	NM_052911		14	878	0	0	0	0.500413	0	14	878					A	19154390	T	A	19154390	4	1	57	1	0	0	0	0	0	1	0	0	5248	1530	53	5	2143	5	ESCO1	18	19154390	Nonsense_Mutation	SNP	T	TCGA-EJ-5508-01A-02D-1576-08		19154390	58922858	46	2967											
ADNP2	22850	broad.mit.edu	37	chr18	77895268	77895268	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caatggccggttccatgcccGgcatgccctctcctccagtg	5	9	10	17	2	1	0	0	0	1	0	4	0	3	0	6	3	2	2	6	3	1	1	rs572333470		TCGA-EJ-5508-01A-02D-1576-08	TCGA-EJ-5508-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	275b578d-a786-4fdc-a995-5ab0505d68ee	1e2392d3-82f0-4f1e-b949-a0a634c87743	g.chr18:77895268G>A	ENST00000262198.4	+	4	2427	c.1972G>A	c.(1972-1974)Ggc>Agc	p.G658S		NM_014913.3	NP_055728.1	Q6IQ32	ADNP2_HUMAN	ADNP homeobox 2	658					cellular response to oxidative stress (GO:0034599)|cellular response to retinoic acid (GO:0071300)|negative regulation of cell death (GO:0060548)|neuron differentiation (GO:0030182)|positive regulation of cell growth (GO:0030307)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.G658S(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(9)|liver(1)|lung(15)|ovary(5)|prostate(2)	42		all_cancers(4;1.06e-15)|all_epithelial(4;2.36e-10)|all_lung(4;0.000302)|Lung NSC(4;0.000518)|Esophageal squamous(42;0.0212)|Ovarian(4;0.0256)|all_hematologic(56;0.15)|Melanoma(33;0.2)		Epithelial(2;1.1e-11)|OV - Ovarian serous cystadenocarcinoma(15;7.54e-09)|BRCA - Breast invasive adenocarcinoma(31;0.00247)|STAD - Stomach adenocarcinoma(84;0.164)		TTCCATGCCCGGCATGCCCTC	0.632													G|||	1	0.000199681	0	0	5008	,	,		20284	0		0	False		,,,				2504	0.001					ENST00000262198.4																			1	Substitution - Missense(1)	p.G658S(1)	prostate(1)	breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(9)|liver(1)|lung(15)|ovary(5)|prostate(2)	42						c.(1972-1974)Ggc>Agc		ADNP homeobox 2							75	67	69					18																	77895268		2203	4300	6503	SO:0001583	missense	22850				cellular response to oxidative stress|cellular response to retinoic acid|negative regulation of cell death|neuron differentiation|positive regulation of cell growth	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr18:77895268G>A	AB020670	CCDS32853.1	18q23	2013-01-07	2007-07-17	2007-07-17	ENSG00000101544	ENSG00000101544		"Homeoboxes / ZF class", "Zinc fingers, C2H2-type"	23803	protein-coding gene	gene with protein product			"zinc finger protein 508"	ZNF508			Standard	NM_014913		Approved	KIAA0863	uc002lnw.3	Q6IQ32	OTTHUMG00000172535	ENST00000262198.4:c.1972G>A	18.37:g.77895268G>A	ENSP00000262198:p.Gly658Ser						p.G658S	NM_014913.3	NP_055728.1	Q6IQ32	ADNP2_HUMAN		Epithelial(2;1.1e-11)|OV - Ovarian serous cystadenocarcinoma(15;7.54e-09)|BRCA - Breast invasive adenocarcinoma(31;0.00247)|STAD - Stomach adenocarcinoma(84;0.164)	4	2427	+		all_cancers(4;1.06e-15)|all_epithelial(4;2.36e-10)|all_lung(4;0.000302)|Lung NSC(4;0.000518)|Esophageal squamous(42;0.0212)|Ovarian(4;0.0256)|all_hematologic(56;0.15)|Melanoma(33;0.2)	658					A8K951|O94943|Q9H9P3	Missense_Mutation	SNP	ENST00000262198.4	37	c.1972G>A	CCDS32853.1	.	.	.	.	.	.	.	.	.	.	G	0.004	-2.301098	0.00243	.	.	ENSG00000101544	ENST00000262198	.	.	.	4.86	-1.77	0.07982	.	0.507797	0.18998	N	0.125431	T	0.18425	0.0442	N	0.04297	-0.235	0.09310	N	1	B	0.10296	0.003	B	0.08055	0.003	T	0.18555	-1.0333	8	.	.	.	-2.5949	13.93	0.63989	0.8458:0.0:0.1542:0.0	.	658	Q6IQ32	ADNP2_HUMAN	S	658	.	.	G	+	1	0	ADNP2	75996259	0.000000	0.05858	0.009000	0.14445	0.017000	0.09413	0.316000	0.19469	-0.623000	0.05618	-0.142000	0.14014	GGC		0.632	ADNP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418979.1	NM_014913		3	69	0	0	0	0.115264	0	3	69					A	77895268	G	A	77895268	3	1	57	1	0	0	0	0	1	0	0	0	324	1116	39	2	1982	2	ADNP2	18	77895268	Missense_Mutation	SNP	G	TCGA-EJ-5508-01A-02D-1576-08	58740878	77895268	181980	47	2968											
MKNK2	2872	broad.mit.edu	37	chr19	2041132	2041132	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gagatgaggtctttggcagcGcaggagatgtgggcccagtc	8	8	17	8	1	1	3	0	1	1	2	2	5	1	3	1	4	1	2	1	4	0	1	rs537824868		TCGA-EJ-5508-01A-02D-1576-08	TCGA-EJ-5508-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	275b578d-a786-4fdc-a995-5ab0505d68ee	1e2392d3-82f0-4f1e-b949-a0a634c87743	g.chr19:2041132G>A	ENST00000591601.1	-	11	1052	c.1017C>T	c.(1015-1017)tgC>tgT	p.C339C	MKNK2_ENST00000541165.1_Silent_p.C208C|MKNK2_ENST00000591588.1_Silent_p.C83C|MKNK2_ENST00000591142.1_Silent_p.C83C|MKNK2_ENST00000250896.3_Silent_p.C339C|MKNK2_ENST00000588014.1_Silent_p.C83C|MKNK2_ENST00000309340.7_Silent_p.C339C			Q9HBH9	MKNK2_HUMAN	MAP kinase interacting serine/threonine kinase 2	339	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell surface receptor signaling pathway (GO:0007166)|cellular response to arsenic-containing substance (GO:0071243)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|hemopoiesis (GO:0030097)|intracellular signal transduction (GO:0035556)|protein phosphorylation (GO:0006468)|regulation of translation (GO:0006417)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|kidney(3)|large_intestine(3)|lung(3)	10		Ovarian(11;2.11e-07)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CTTTGGCAGCGCAGGAGATGT	0.597													G|||	1	0.000199681	0	0	5008	,	,		18889	0		0	False		,,,				2504	0.001					ENST00000250896.3																			0				breast(1)|kidney(3)|large_intestine(3)|lung(3)	10						c.(1015-1017)tgC>tgT		MAP kinase interacting serine/threonine kinase 2							191	145	161					19																	2041132		2203	4300	6503	SO:0001819	synonymous_variant	2872				cell surface receptor linked signaling pathway|intracellular protein kinase cascade|regulation of translation		ATP binding|metal ion binding|protein serine/threonine kinase activity	g.chr19:2041132G>A	AF125532	CCDS12079.1, CCDS12080.1	19p13.3	2012-12-20			ENSG00000099875	ENSG00000099875			7111	protein-coding gene	gene with protein product	"Putative map kinase interacting kinase"	605069	"G protein-coupled receptor kinase 7"	GPRK7		11013076	Standard	NM_199054		Approved	MNK2	uc002lus.2	Q9HBH9	OTTHUMG00000180020	ENST00000591601.1:c.1017C>T	19.37:g.2041132G>A						MKNK2_ENST00000309340.7_Silent_p.C339C|MKNK2_ENST00000591588.1_Silent_p.C83C|MKNK2_ENST00000591142.1_Silent_p.C83C|MKNK2_ENST00000588014.1_Silent_p.C83C|MKNK2_ENST00000541165.1_Silent_p.C208C|MKNK2_ENST00000591601.1_Silent_p.C339C	p.C339C	NM_199054.2	NP_951009.1	Q9HBH9	MKNK2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	12	1261	-		Ovarian(11;2.11e-07)|Hepatocellular(1079;0.137)	339			Protein kinase.		Q6GPI3|Q9HBH8|Q9UHR0|Q9Y2N6	Silent	SNP	ENST00000591601.1	37	c.1017C>T	CCDS12080.1																																																																																				0.597	MKNK2-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000449312.1	NM_199054		4	156	0	0	0	0.217242	0	4	156					A	2041132	G	A	2041132	2	1	57	1	0	0	0	0	0	0	0	1	9605	1079	38	1		1	MKNK2	19	2041132	Silent	SNP	G	TCGA-EJ-5508-01A-02D-1576-08		2041132	57087851	48	2969											
FBN3	84467	broad.mit.edu	37	chr19	8176568	8176568	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atccccggcaaagccctggcGgcaggtgcagcggtaggagc	8	4	16	13	3	0	0	0	0	0	0	1	1	1	1	3	6	4	4	3	6	2	1	rs149551378	byFrequency	TCGA-EJ-5508-01A-02D-1576-08	TCGA-EJ-5508-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	275b578d-a786-4fdc-a995-5ab0505d68ee	1e2392d3-82f0-4f1e-b949-a0a634c87743	g.chr19:8176568G>A	ENST00000600128.1	-	32	4462	c.4048C>T	c.(4048-4050)Cgc>Tgc	p.R1350C	FBN3_ENST00000601739.1_Missense_Mutation_p.R1350C|FBN3_ENST00000270509.2_Missense_Mutation_p.R1350C			Q75N90	FBN3_HUMAN	fibrillin 3	1350	EGF-like 20; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.					proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)	p.R1350C(1)		NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						AAGCCCTGGCGGCAGGTGCAG	0.632																																						ENST00000600128.1																			1	Substitution - Missense(1)	p.R1350C(1)	prostate(1)	NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						c.(4048-4050)Cgc>Tgc		fibrillin 3		G	CYS/ARG	8,4398	12.9+/-30.5	0,8,2195	31	32	32		4048	3.8	0.3	19	dbSNP_134	32	1,8599	1.2+/-3.3	0,1,4299	yes	missense	FBN3	NM_032447.3	180	0,9,6494	AA,AG,GG		0.0116,0.1816,0.0692	probably-damaging	1350/2810	8176568	9,12997	2203	4300	6503	SO:0001583	missense	84467					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent	g.chr19:8176568G>A		CCDS12196.1	19p13	2008-02-05							18794	protein-coding gene	gene with protein product		608529					Standard	NM_032447		Approved		uc002mjf.3	Q75N90		ENST00000600128.1:c.4048C>T	19.37:g.8176568G>A	ENSP00000470498:p.Arg1350Cys					FBN3_ENST00000270509.2_Missense_Mutation_p.R1350C|FBN3_ENST00000601739.1_Missense_Mutation_p.R1350C	p.R1350C			Q75N90	FBN3_HUMAN			32	4462	-			1350			EGF-like 20; calcium-binding.		Q75N91|Q75N92|Q75N93|Q86SJ5|Q96JP8	Missense_Mutation	SNP	ENST00000600128.1	37	c.4048C>T	CCDS12196.1	.	.	.	.	.	.	.	.	.	.	G	14.11	2.437926	0.43326	0.001816	1.16E-4	ENSG00000142449	ENST00000270509	D	0.92495	-3.05	3.84	3.84	0.44239	EGF-like region, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.248924	0.34200	U	0.004164	D	0.94424	0.8206	M	0.85462	2.755	0.45108	D	0.998123	D	0.69078	0.997	P	0.54965	0.765	D	0.94456	0.7672	10	0.59425	D	0.04	.	11.0595	0.47940	0.0:0.0:0.8141:0.1859	.	1350	Q75N90	FBN3_HUMAN	C	1350	ENSP00000270509:R1350C	ENSP00000270509:R1350C	R	-	1	0	FBN3	8082568	0.996000	0.38824	0.253000	0.24343	0.039000	0.13416	2.392000	0.44433	1.682000	0.51000	0.313000	0.20887	CGC		0.632	FBN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461428.2	NM_032447		12	43	0	0	0	0.435327	0	12	43					A	8176568	G	A	8176568	3	1	57	1	0	0	0	0	1	0	0	0	5704	1116	39	2	4513	2	FBN3	19	8176568	Missense_Mutation	SNP	G	TCGA-EJ-5508-01A-02D-1576-08	6135436	8176568	50952415	49	2970											
DNM2	1785	broad.mit.edu	37	chr19	10904491	10904491	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctccgggggcgcccgaatcaAtcgcatcttccacgagcggt	7	7	12	15	6	2	0	1	0	1	0	5	2	4	0	3	3	1	1	3	3	2	1			TCGA-EJ-5508-01A-02D-1576-08	TCGA-EJ-5508-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	275b578d-a786-4fdc-a995-5ab0505d68ee	1e2392d3-82f0-4f1e-b949-a0a634c87743	g.chr19:10904491A>G	ENST00000355667.6	+	8	1168	c.1088A>G	c.(1087-1089)aAt>aGt	p.N363S	DNM2_ENST00000359692.6_Missense_Mutation_p.N363S|DNM2_ENST00000389253.4_Missense_Mutation_p.N363S|DNM2_ENST00000408974.4_Missense_Mutation_p.N363S|DNM2_ENST00000585892.1_Missense_Mutation_p.N363S|DNM2_ENST00000314646.5_Missense_Mutation_p.N363S	NM_001005360.2|NM_001190716.1	NP_001005360.1|NP_001177645.1	P50570	DYN2_HUMAN	dynamin 2	363					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|endocytosis (GO:0006897)|G2/M transition of mitotic cell cycle (GO:0000086)|GTP catabolic process (GO:0006184)|membrane organization (GO:0061024)|nitric oxide metabolic process (GO:0046209)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription, DNA-templated (GO:0045893)|post-Golgi vesicle-mediated transport (GO:0006892)|receptor internalization (GO:0031623)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic vesicle transport (GO:0048489)|transferrin transport (GO:0033572)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	enzyme binding (GO:0019899)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|microtubule binding (GO:0008017)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	42			Epithelial(33;4.17e-05)|all cancers(31;8.48e-05)			GCCCGAATCAATCGCATCTTC	0.617			"F, N, Splice, Mis, O"		ETP ALL																																	ENST00000314646.5				Rec	yes		19	19p13.2	1785	"F, N, Splice, Mis, O"	dynamin 2			L			ETP ALL		0				breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	42						c.(1087-1089)aAt>aGt		dynamin 2							94	101	99					19																	10904491		2203	4300	6503	SO:0001583	missense	1785				G2/M transition of mitotic cell cycle|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|post-Golgi vesicle-mediated transport|receptor internalization|signal transduction|synaptic vesicle transport|transferrin transport	cell junction|cytosol|Golgi membrane|microtubule|postsynaptic density|postsynaptic membrane	GTP binding|GTPase activity|microtubule binding	g.chr19:10904491A>G		CCDS32907.1, CCDS32908.1, CCDS45968.1, CCDS45969.1, CCDS59351.1	19p	2014-09-17						"Pleckstrin homology (PH) domain containing"	2974	protein-coding gene	gene with protein product	"dynamin II", "cytoskeletal protein"	602378				7590285, 9143510	Standard	NM_001190716		Approved	DYNII, DYN2, CMTDIB, CMTDI1, DI-CMTB	uc002mps.2	P50570		ENST00000355667.6:c.1088A>G	19.37:g.10904491A>G	ENSP00000347890:p.Asn363Ser					DNM2_ENST00000359692.6_Missense_Mutation_p.N363S|DNM2_ENST00000355667.6_Missense_Mutation_p.N363S|DNM2_ENST00000389253.4_Missense_Mutation_p.N363S|DNM2_ENST00000585892.1_Missense_Mutation_p.N363S|DNM2_ENST00000408974.4_Missense_Mutation_p.N363S	p.N363S			P50570	DYN2_HUMAN	Epithelial(33;4.17e-05)|all cancers(31;8.48e-05)		8	1252	+			363					A8K1B6|E7EV30|E9PEQ4|K7ESI9|Q5I0Y0|Q7Z5S3|Q9UPH4	Missense_Mutation	SNP	ENST00000355667.6	37	c.1088A>G	CCDS45968.1	.	.	.	.	.	.	.	.	.	.	A	17.87	3.495180	0.64186	.	.	ENSG00000079805	ENST00000389252;ENST00000408974;ENST00000355667;ENST00000359692;ENST00000389253;ENST00000314646	T;T;T;T;T	0.72615	-0.67;-0.67;-0.67;-0.67;-0.67	4.93	4.93	0.64822	Dynamin central domain (1);	0.092490	0.64402	D	0.000001	T	0.69459	0.3113	L	0.41824	1.3	0.80722	D	1	D;B;B;B;B	0.52996	0.957;0.164;0.081;0.095;0.207	P;B;B;B;B	0.50754	0.649;0.168;0.084;0.12;0.092	T	0.69277	-0.5187	10	0.37606	T	0.19	-6.145	13.5959	0.61988	1.0:0.0:0.0:0.0	.	96;363;363;363;363	B4DJ53;A8K1B6;P50570-2;P50570;E9PEQ4	.;.;.;DYN2_HUMAN;.	S	352;363;363;363;363;363	ENSP00000386192:N363S;ENSP00000347890:N363S;ENSP00000352721:N363S;ENSP00000373905:N363S;ENSP00000313164:N363S	ENSP00000313164:N363S	N	+	2	0	DNM2	10765491	1.000000	0.71417	0.999000	0.59377	0.982000	0.71751	9.339000	0.96797	1.846000	0.53633	0.533000	0.62120	AAT		0.617	DNM2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000452592.1	NM_004945		5	208	0	0	0	0.217242	0	5	208					G	10904491	A	G	10904491	3	3	57	1	0	0	0	0	1	0	0	0	4672	101	4	4	1118	4	DNM2	19	10904491	Missense_Mutation	SNP	A	TCGA-EJ-5508-01A-02D-1576-08	2727923	10904491	48224492	50	2971											
MYO9B	4650	broad.mit.edu	37	chr19	17267727	17267727	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tttctttcccaggatttttgCcgtcctctcggccatcctgt	3	17	7	14	2	2	0	0	0	2	0	6	1	5	1	5	2	1	0	5	2	0	4			TCGA-EJ-5508-01A-02D-1576-08	TCGA-EJ-5508-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	275b578d-a786-4fdc-a995-5ab0505d68ee	1e2392d3-82f0-4f1e-b949-a0a634c87743	g.chr19:17267727C>T	ENST00000594824.1	+	7	1355	c.1208C>T	c.(1207-1209)gCc>gTc	p.A403V	MYO9B_ENST00000397274.2_Missense_Mutation_p.A403V|MYO9B_ENST00000595618.1_Missense_Mutation_p.A403V|CTD-3032J10.2_ENST00000599360.1_RNA|CTD-3032J10.2_ENST00000597216.1_RNA			Q13459	MYO9B_HUMAN	myosin IXB	403	Myosin motor.				actin filament-based movement (GO:0030048)|establishment of cell polarity (GO:0030010)|lamellipodium morphogenesis (GO:0072673)|macrophage chemotaxis (GO:0048246)|monocyte chemotaxis (GO:0002548)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|filamentous actin (GO:0031941)|filopodium tip (GO:0032433)|lamellipodium (GO:0030027)|membrane (GO:0016020)|myosin complex (GO:0016459)|perinuclear region of cytoplasm (GO:0048471)|ruffle (GO:0001726)	actin binding (GO:0003779)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|Rho GTPase activator activity (GO:0005100)|zinc ion binding (GO:0008270)	p.A403V(1)		breast(3)|endometrium(9)|kidney(2)|large_intestine(1)|lung(19)|soft_tissue(1)|urinary_tract(4)	39						AGGATTTTTGCCGTCCTCTCG	0.527																																						ENST00000595618.1																			1	Substitution - Missense(1)	p.A403V(1)	prostate(1)	breast(3)|endometrium(9)|kidney(2)|large_intestine(1)|lung(19)|soft_tissue(1)|urinary_tract(4)	39						c.(1207-1209)gCc>gTc		myosin IXB							72	73	72					19																	17267727		1918	4129	6047	SO:0001583	missense	4650				actin filament-based movement	cell cortex|cytosol|filamentous actin|myosin complex|perinuclear region of cytoplasm	actin binding|ADP binding|ATP binding|ATPase activity|calmodulin binding|metal ion binding|microfilament motor activity|Rho GTPase activator activity	g.chr19:17267727C>T		CCDS46010.1	19p13.1	2011-09-27				ENSG00000099331		"Myosins / Myosin superfamily : Class IX"	7609	protein-coding gene	gene with protein product		602129		CELIAC4		9226381	Standard	NM_004145		Approved		uc010eak.3	Q13459		ENST00000594824.1:c.1208C>T	19.37:g.17267727C>T	ENSP00000471367:p.Ala403Val					CTD-3032J10.2_ENST00000597216.1_RNA|MYO9B_ENST00000397274.2_Missense_Mutation_p.A403V|CTD-3032J10.2_ENST00000599360.1_RNA|MYO9B_ENST00000594824.1_Missense_Mutation_p.A403V	p.A403V	NM_001130065.1|NM_004145.3	NP_001123537.1|NP_004136.2	Q13459	MYO9B_HUMAN			7	1360	+			403			Myosin head-like.		O75314|Q9NUJ2|Q9UHN0	Missense_Mutation	SNP	ENST00000594824.1	37	c.1208C>T		.	.	.	.	.	.	.	.	.	.	C	14.60	2.583474	0.46006	.	.	ENSG00000099331	ENST00000397274	D	0.87571	-2.27	5.52	4.47	0.54385	Myosin head, motor domain (2);	0.129149	0.35739	N	0.003002	D	0.84261	0.5433	L	0.39020	1.185	0.23331	N	0.99789	B;B;B	0.19706	0.038;0.038;0.007	B;B;B	0.32022	0.139;0.139;0.038	T	0.77197	-0.2676	10	0.66056	D	0.02	.	15.6004	0.76620	0.0:0.8623:0.1377:0.0	.	403;403;409	Q13459;B0I1T6;Q4LE74	MYO9B_HUMAN;.;.	V	403	ENSP00000380444:A403V	ENSP00000380444:A403V	A	+	2	0	MYO9B	17128727	0.997000	0.39634	0.293000	0.24932	0.545000	0.35147	3.662000	0.54510	1.304000	0.44892	0.563000	0.77884	GCC		0.527	MYO9B-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000463236.1			4	165	0	0	0	0.150653	0	4	165					T	17267727	C	T	17267727	3	4	57	1	0	0	0	0	1	0	0	0	10085	739	26	3	1230	3	MYO9B	19	17267727	Missense_Mutation	SNP	C	TCGA-EJ-5508-01A-02D-1576-08	6363236	17267727	41861256	51	2972											
PSG9	5678	broad.mit.edu	37	chr19	43766012	43766012	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaggaacagaagatactcacGgaggagattcagggtgactg	14	6	15	6	1	2	4	2	1	0	3	2	8	2	6	0	4	2	0	0	4	3	2	rs143780806		TCGA-EJ-5508-01A-02D-1576-08	TCGA-EJ-5508-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	275b578d-a786-4fdc-a995-5ab0505d68ee	1e2392d3-82f0-4f1e-b949-a0a634c87743	g.chr19:43766012G>A	ENST00000270077.3	-	3	805	c.709C>T	c.(709-711)Ccg>Tcg	p.P237S	PSG9_ENST00000418820.2_Intron|PSG9_ENST00000291752.5_Intron|PSG9_ENST00000244293.7_Splice_Site_p.H237Y|PSG9_ENST00000596730.1_Intron|PSG9_ENST00000593948.1_Splice_Site_p.H237Y|PSG9_ENST00000443718.3_Intron	NM_002784.3	NP_002775.3	Q00887	PSG9_HUMAN	pregnancy specific beta-1-glycoprotein 9	237					female pregnancy (GO:0007565)	extracellular region (GO:0005576)				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Prostate(69;0.00682)				AGATACTCACGGAGGAGATTC	0.522													G|||	1	0.000199681	0	0	5008	,	,		21249	0		0.001	False		,,,				2504	0					ENST00000244293.7																			0				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						c.e3+1		pregnancy specific beta-1-glycoprotein 9		G	SER/PRO	0,4406		0,0,2203	137	136	137		709	-1.6	0	19	dbSNP_134	137	6,8586		0,6,4290	no	missense-near-splice	PSG9	NM_002784.3	74	0,6,6493	AA,AG,GG		0.0698,0.0,0.0462	benign	237/427	43766012	6,12992	2203	4296	6499	SO:0001630	splice_region_variant	5678				female pregnancy	extracellular region		g.chr19:43766012G>A	M34481	CCDS12618.1	19q13.2	2013-01-29			ENSG00000183668	ENSG00000183668		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	9526	protein-coding gene	gene with protein product		176398		PSG11		7806221	Standard	XM_005259076		Approved	PSGII	uc002owd.4	Q00887	OTTHUMG00000182826	ENST00000270077.3:c.709+1C>T	19.37:g.43766012G>A						PSG9_ENST00000596730.1_Intron|PSG9_ENST00000291752.5_Intron|PSG9_ENST00000593948.1_Splice_Site_p.H237_splice|PSG9_ENST00000443718.3_Intron|PSG9_ENST00000418820.2_Intron|PSG9_ENST00000270077.3_Splice_Site_p.P237_splice	p.H237_splice			Q00887	PSG9_HUMAN			3	775	-		Prostate(69;0.00682)	236					B2R869|Q15227|Q15236|Q15237|Q8WW78|Q9UQ73	Splice_Site	SNP	ENST00000270077.3	37	c.709_splice	CCDS12618.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	N|N	0.007|0.007	-1.998642|-1.998642	0.00435|0.00435	0.0|0.0	6.98E-4|6.98E-4	ENSG00000183668|ENSG00000183668	ENST00000244293|ENST00000270077;ENST00000435220	T|T	0.19105|0.53423	2.17|0.62	2.12|2.12	-1.64|-1.64	0.08318|0.08318	.|.	.|.	.|.	.|.	.|.	T|T	0.22859|0.22859	0.0552|0.0552	N|N	0.17248|0.17248	0.465|0.465	0.53688|0.53688	D|D	0.999979|0.999979	B|B	0.09022|0.14438	0.002|0.01	B|B	0.01281|0.18561	0.0|0.022	T|T	0.10474|0.10474	-1.0628|-1.0628	8|8	.|.	.|.	.|.	.|.	2.6813|2.6813	0.05094|0.05094	0.543:0.2716:0.1854:0.0|0.543:0.2716:0.1854:0.0	.|.	237|237	Q15227|Q00887	.|PSG9_HUMAN	Y|S	237|237;198	ENSP00000244293:H237Y|ENSP00000270077:P237S	.|.	H|P	-|-	1|1	0|0	PSG9|PSG9	48457852|48457852	0.028000|0.028000	0.19301|0.19301	0.016000|0.016000	0.15963|0.15963	0.083000|0.083000	0.17756|0.17756	-0.890000|-0.890000	0.04140|0.04140	-0.778000|-0.778000	0.04566|0.04566	-1.050000|-1.050000	0.02344|0.02344	CAT|CCG		0.522	PSG9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323065.1	NM_002784	Missense_Mutation	8	494	0	0	0	0.307466	0	8	494					A	43766012	G	A	43766012	5	1	57	1	0	0	0	0	0	0	1	0	12662	1130	39	2	587	2	PSG9	19	43766012	Splice_Site	SNP	G	TCGA-EJ-5508-01A-02D-1576-08	26498285	43766012	15362971	52	2973											
ZNF845	91664	broad.mit.edu	37	chr19	53855284	53855284	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gaagctttcagtttcaaatcGaaccttgaaagacataggag	15	10	9	7	1	2	2	2	1	0	1	3	5	2	3	1	1	2	2	1	1	5	4			TCGA-EJ-5508-01A-02D-1576-08	TCGA-EJ-5508-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	275b578d-a786-4fdc-a995-5ab0505d68ee	1e2392d3-82f0-4f1e-b949-a0a634c87743	g.chr19:53855284G>A	ENST00000595091.1	+	5	1575	c.1356G>A	c.(1354-1356)tcG>tcA	p.S452S	ZNF845_ENST00000458035.1_Silent_p.S452S			Q96IR2	ZN845_HUMAN	zinc finger protein 845	452					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.S452S(2)		endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						GTTTCAAATCGAACCTTGAAA	0.398																																						ENST00000458035.1																			2	Substitution - coding silent(2)	p.S452S(2)	prostate(1)|kidney(1)	endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						c.(1354-1356)tcG>tcA		zinc finger protein 845							26	24	25					19																	53855284		692	1590	2282	SO:0001819	synonymous_variant	91664				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53855284G>A	BC007307	CCDS46170.1	19q13.42	2013-01-08			ENSG00000213799	ENSG00000213799		"Zinc fingers, C2H2-type", "-"	25112	protein-coding gene	gene with protein product							Standard	NM_138374		Approved		uc010ydv.1	Q96IR2		ENST00000595091.1:c.1356G>A	19.37:g.53855284G>A						ZNF845_ENST00000595091.1_Silent_p.S452S	p.S452S	NM_138374.1	NP_612383.1	Q96IR2	ZN845_HUMAN			4	1473	+			452						Silent	SNP	ENST00000595091.1	37	c.1356G>A	CCDS46170.1																																																																																				0.398	ZNF845-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464359.1	XM_039908		5	164	0	0	0	0.184627	0	5	164					A	53855284	G	A	53855284	2	1	57	1	0	0	0	0	0	0	0	1	18188	1045	37	2		2	ZNF845	19	53855284	Silent	SNP	G	TCGA-EJ-5508-01A-02D-1576-08	10089272	53855284	5273699	53	2974											
LILRB5	10990	broad.mit.edu	37	chr19	54754760	54754760	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtcaagctgtgtagctgggCgtaggtcacatcctgggggg	6	9	18	8	1	2	0	2	0	0	0	3	0	3	0	1	6	2	4	1	6	3	2	rs112549096	byFrequency	TCGA-EJ-5508-01A-02D-1576-08	TCGA-EJ-5508-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	275b578d-a786-4fdc-a995-5ab0505d68ee	1e2392d3-82f0-4f1e-b949-a0a634c87743	g.chr19:54754760C>T	ENST00000316219.5	-	13	1770	c.1663G>A	c.(1663-1665)Gcc>Acc	p.A555T	LILRB5_ENST00000449561.2_Missense_Mutation_p.A556T|LILRB5_ENST00000450632.1_3'UTR|CTD-2337J16.1_ENST00000595133.1_lincRNA|LILRB5_ENST00000345866.6_Missense_Mutation_p.A456T	NM_001081442.1|NM_006840.3	NP_001074911.1|NP_006831.1	O75023	LIRB5_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5	555					cell surface receptor signaling pathway (GO:0007166)|defense response (GO:0006952)|immune system process (GO:0002376)	integral component of membrane (GO:0016021)	transmembrane signaling receptor activity (GO:0004888)	p.A555T(1)		NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		TGTAGCTGGGCGTAGGTCACA	0.652																																						ENST00000316219.5																			1	Substitution - Missense(1)	p.A555T(1)	prostate(1)	NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	56						c.(1663-1665)Gcc>Acc		leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5		C	THR/ALA,THR/ALA,THR/ALA	1,4403	2.1+/-5.4	0,1,2201	51	54	53		1666,1366,1663	-0.7	0	19	dbSNP_132	53	3,8581	3.0+/-9.4	0,3,4289	no	missense,missense,missense	LILRB5	NM_001081442.1,NM_001081443.1,NM_006840.3	58,58,58	0,4,6490	TT,TC,CC		0.0349,0.0227,0.0308	probably-damaging,probably-damaging,probably-damaging	556/592,456/492,555/591	54754760	4,12984	2202	4292	6494	SO:0001583	missense	0				cell surface receptor linked signaling pathway|defense response	integral to membrane	transmembrane receptor activity	g.chr19:54754760C>T	AF025534	CCDS12885.1, CCDS42611.1, CCDS46176.1	19q13.4	2013-01-11			ENSG00000105609	ENSG00000105609		"Leukocyte immunoglobulin-like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6609	protein-coding gene	gene with protein product		604814				9548455	Standard	NM_006840		Approved	LIR-8, LIR8, CD85c	uc002qey.3	O75023	OTTHUMG00000066636	ENST00000316219.5:c.1663G>A	19.37:g.54754760C>T	ENSP00000320390:p.Ala555Thr					LILRB5_ENST00000345866.6_Missense_Mutation_p.A456T|LILRB5_ENST00000449561.2_Missense_Mutation_p.A556T|LILRB5_ENST00000450632.1_3'UTR	p.A555T	NM_001081442.1|NM_006840.3	NP_001074911.1|NP_006831.1	O75023	LIRB5_HUMAN		GBM - Glioblastoma multiforme(193;0.105)	13	1770	-	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)		555					Q8N760	Missense_Mutation	SNP	ENST00000316219.5	37	c.1663G>A	CCDS12885.1	.	.	.	.	.	.	.	.	.	.	C	15.13	2.741144	0.49151	2.27E-4	3.49E-4	ENSG00000105609	ENST00000316219;ENST00000449561;ENST00000345866	T;T;T	0.00705	6.34;6.36;5.81	2.75	-0.704	0.11256	.	.	.	.	.	T	0.02688	0.0081	M	0.72894	2.215	0.09310	N	1	D;P;D	0.89917	1.0;0.938;0.998	D;B;P	0.77004	0.989;0.248;0.68	T	0.41161	-0.9524	9	0.87932	D	0	.	4.9814	0.14166	0.0:0.5222:0.0:0.4778	.	456;556;555	O75023-2;O75023-3;O75023	.;.;LIRB5_HUMAN	T	555;556;456	ENSP00000320390:A555T;ENSP00000406478:A556T;ENSP00000263430:A456T	ENSP00000320390:A555T	A	-	1	0	LILRB5	59446572	0.067000	0.21026	0.003000	0.11579	0.380000	0.30137	0.176000	0.16782	0.072000	0.16694	-0.225000	0.12378	GCC		0.652	LILRB5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000142877.2			8	73	0	0	0	0.27861	0	8	73					T	54754760	C	T	54754760	3	4	57	1	0	0	0	0	1	0	0	0	8794	768	27	1	113	1	LILRB5	19	54754760	Missense_Mutation	SNP	C	TCGA-EJ-5508-01A-02D-1576-08	899476	54754760	4374223	54	2975											
LILRB1	10859	broad.mit.edu	37	chr19	55148219	55148219	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccccccaggatgtgacctacGcccagctgcacagcttgacc	8	6	9	18	1	0	2	0	2	0	0	0	3	0	3	6	1	4	3	6	1	1	2			TCGA-EJ-5508-01A-02D-1576-08	TCGA-EJ-5508-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	275b578d-a786-4fdc-a995-5ab0505d68ee	1e2392d3-82f0-4f1e-b949-a0a634c87743	g.chr19:55148219G>A	ENST00000396331.1	+	16	2200	c.1843G>A	c.(1843-1845)Gcc>Acc	p.A615T	LILRB1_ENST00000396332.4_Missense_Mutation_p.A616T|LILRB1_ENST00000434867.2_Missense_Mutation_p.A615T|LILRB1_ENST00000396327.3_Missense_Mutation_p.A616T|LILRB1_ENST00000427581.2_Missense_Mutation_p.A666T|LILRB1_ENST00000462628.1_3'UTR|LILRB1_ENST00000396321.2_Missense_Mutation_p.A615T|LILRB1_ENST00000418536.2_Missense_Mutation_p.A599T|LILRB1_ENST00000324602.7_Missense_Mutation_p.A617T|AC009892.10_ENST00000456337.1_Intron|LILRB1_ENST00000396315.1_Missense_Mutation_p.A617T|LILRB1_ENST00000448689.1_3'UTR|LILRB1_ENST00000396317.1_Missense_Mutation_p.A599T	NM_006669.3	NP_006660.3	Q8NHL6	LIRB1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1	615					cellular response to lipopolysaccharide (GO:0071222)|defense response to virus (GO:0051607)|dendritic cell differentiation (GO:0097028)|Fc receptor mediated inhibitory signaling pathway (GO:0002774)|immune response-inhibiting cell surface receptor signaling pathway (GO:0002767)|interferon-gamma production (GO:0032609)|interferon-gamma secretion (GO:0072643)|negative regulation of alpha-beta T cell activation (GO:0046636)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of CD8-positive, alpha-beta T cell activation (GO:2001186)|negative regulation of cell cycle (GO:0045786)|negative regulation of cytokine secretion involved in immune response (GO:0002740)|negative regulation of dendritic cell apoptotic process (GO:2000669)|negative regulation of dendritic cell differentiation (GO:2001199)|negative regulation of endocytosis (GO:0045806)|negative regulation of interferon-beta secretion (GO:0035548)|negative regulation of interferon-gamma biosynthetic process (GO:0045077)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-10 secretion (GO:2001180)|negative regulation of interleukin-12 secretion (GO:2001183)|negative regulation of mononuclear cell proliferation (GO:0032945)|negative regulation of natural killer cell mediated cytotoxicity (GO:0045953)|negative regulation of osteoclast development (GO:2001205)|negative regulation of serotonin secretion (GO:0014063)|negative regulation of T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell (GO:2001189)|negative regulation of T cell mediated cytotoxicity (GO:0001915)|negative regulation of T cell proliferation (GO:0042130)|negative regulation of transforming growth factor-beta secretion (GO:2001202)|negative regulation of tumor necrosis factor biosynthetic process (GO:0042536)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cytolysis (GO:0045919)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of gamma-delta T cell activation involved in immune response (GO:2001193)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|receptor internalization (GO:0031623)|regulation of immune response (GO:0050776)|response to virus (GO:0009615)|signal transduction (GO:0007165)|T cell proliferation involved in immune response (GO:0002309)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	HLA-A specific inhibitory MHC class I receptor activity (GO:0030107)|HLA-B specific inhibitory MHC class I receptor activity (GO:0030109)|MHC class I protein binding (GO:0042288)|MHC class I receptor activity (GO:0032393)|protein homodimerization activity (GO:0042803)|protein phosphatase 1 binding (GO:0008157)|SH2 domain binding (GO:0042169)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	74				GBM - Glioblastoma multiforme(193;0.0188)		TGTGACCTACGCCCAGCTGCA	0.667										HNSCC(37;0.09)																												ENST00000396331.1																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	74						c.(1843-1845)Gcc>Acc		leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1							81	72	75					19																	55148219		2203	4300	6503	SO:0001583	missense	0				regulation of immune response|response to virus	integral to membrane|plasma membrane	protein phosphatase 1 binding|receptor activity	g.chr19:55148219G>A	AF009220	CCDS42614.1, CCDS42615.1, CCDS42616.1, CCDS42617.1, CCDS62803.1	19q13.4	2013-01-11						"Leukocyte immunoglobulin-like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6605	protein-coding gene	gene with protein product		604811				9285411, 9382880	Standard	XM_006726246		Approved	LIR-1, ILT2, MIR-7, CD85, LIR1, CD85j	uc002qgm.3	Q8NHL6		ENST00000396331.1:c.1843G>A	19.37:g.55148219G>A	ENSP00000379622:p.Ala615Thr	HNSCC(37;0.09)				AC009892.10_ENST00000456337.1_Intron|LILRB1_ENST00000396317.1_Missense_Mutation_p.A599T|LILRB1_ENST00000448689.1_3'UTR|LILRB1_ENST00000324602.7_Missense_Mutation_p.A617T|LILRB1_ENST00000462628.1_3'UTR|LILRB1_ENST00000396332.4_Missense_Mutation_p.A616T|LILRB1_ENST00000396321.2_Missense_Mutation_p.A615T|LILRB1_ENST00000396315.1_Missense_Mutation_p.A617T|LILRB1_ENST00000434867.2_Missense_Mutation_p.A615T|LILRB1_ENST00000418536.2_Missense_Mutation_p.A599T|LILRB1_ENST00000396327.3_Missense_Mutation_p.A616T|LILRB1_ENST00000427581.2_Missense_Mutation_p.A666T	p.A615T	NM_006669.3	NP_006660.3	Q8NHL6	LIRB1_HUMAN		GBM - Glioblastoma multiforme(193;0.0188)	16	2200	+			615					A2IXV4|A8MXT0|O75024|O75025|Q8NHJ9|Q8NHK0	Missense_Mutation	SNP	ENST00000396331.1	37	c.1843G>A	CCDS42617.1	.	.	.	.	.	.	.	.	.	.	G	14.03	2.412833	0.42817	.	.	ENSG00000104972	ENST00000396321;ENST00000418536;ENST00000396331;ENST00000396327;ENST00000324602;ENST00000434867;ENST00000396332;ENST00000427581;ENST00000396317;ENST00000396315	T;T;T;T;T;T;T;T;T;T	0.00597	6.54;6.45;6.54;6.46;6.45;6.54;6.54;6.31;6.45;6.45	1.77	1.77	0.24775	.	.	.	.	.	T	0.02193	0.0068	M	0.77103	2.36	0.09310	N	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.972;0.999;0.989;0.999;0.946	T	0.40683	-0.9550	9	0.87932	D	0	.	7.0775	0.25213	0.0:0.0:1.0:0.0	.	599;617;616;616;615	A8MVE2;Q8NHL6-3;A2IXV4;Q8NHL6-2;Q8NHL6	.;.;.;.;LIRB1_HUMAN	T	615;599;615;616;617;615;616;666;599;617	ENSP00000379614:A615T;ENSP00000391514:A599T;ENSP00000379622:A615T;ENSP00000379618:A616T;ENSP00000315997:A617T;ENSP00000405243:A615T;ENSP00000379623:A616T;ENSP00000395004:A666T;ENSP00000379610:A599T;ENSP00000379608:A617T	ENSP00000315997:A617T	A	+	1	0	LILRB1	59840031	0.833000	0.29383	0.131000	0.22000	0.010000	0.07245	0.359000	0.20233	1.330000	0.45394	0.194000	0.17425	GCC		0.667	LILRB1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000140796.4			4	138	0	0	0	0.248553	0	4	138					A	55148219	G	A	55148219	3	1	57	1	0	0	0	0	1	0	0	0	8790	1087	38	1	1903	1	LILRB1	19	55148219	Missense_Mutation	SNP	G	TCGA-EJ-5508-01A-02D-1576-08	393459	55148219	3980764	55	2976											
N6AMT1	29104	broad.mit.edu	37	chr21	30255333	30255333	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aaagcctgagggcctatcatAgaggctaggaatgcagatac	14	7	12	8	0	1	3	1	1	0	2	1	4	1	4	2	3	3	2	2	3	6	4			TCGA-EJ-5508-01A-02D-1576-08	TCGA-EJ-5508-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	275b578d-a786-4fdc-a995-5ab0505d68ee	1e2392d3-82f0-4f1e-b949-a0a634c87743	g.chr21:30255333A>G	ENST00000303775.5	-	2	220	c.195T>C	c.(193-195)tcT>tcC	p.S65S	N6AMT1_ENST00000351429.3_Silent_p.S65S	NM_013240.4	NP_037372	Q9Y5N5	HEMK2_HUMAN	N-6 adenine-specific DNA methyltransferase 1 (putative)	65					positive regulation of cell growth (GO:0030307)|protein methylation (GO:0006479)	protein complex (GO:0043234)	nucleic acid binding (GO:0003676)|protein methyltransferase activity (GO:0008276)	p.S65S(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)	12						GGCCTATCATAGAGGCTAGGA	0.333																																						ENST00000303775.5																			1	Substitution - coding silent(1)	p.S65S(1)	prostate(1)	breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)	12						c.(193-195)tcT>tcC		N-6 adenine-specific DNA methyltransferase 1 (putative)							95	87	90					21																	30255333		2203	4300	6503	SO:0001819	synonymous_variant	29104				positive regulation of cell growth	protein complex	nucleic acid binding|protein binding|protein methyltransferase activity	g.chr21:30255333A>G	AF139682	CCDS33525.1, CCDS33526.1	21q21.3	2006-12-14	2006-12-14	2006-12-14	ENSG00000156239	ENSG00000156239	2.1.1.72		16021	protein-coding gene	gene with protein product		614553	"chromosome 21 open reading frame 127", "HemK methyltransferase family member 2"	C21orf127, HEMK2			Standard	NM_013240		Approved	PRED28, N6AMT, MTQ2	uc002ymo.2	Q9Y5N5	OTTHUMG00000078750	ENST00000303775.5:c.195T>C	21.37:g.30255333A>G						N6AMT1_ENST00000351429.3_Silent_p.S65S	p.S65S	NM_013240.4	NP_037372.3	Q9Y5N5	HEMK2_HUMAN			2	220	-			65					Q96F73	Silent	SNP	ENST00000303775.5	37	c.195T>C	CCDS33526.1																																																																																				0.333	N6AMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171738.1	NM_013240		24	125	0	0	0	0.681144	0	24	125					G	30255333	A	G	30255333	2	3	57	1	0	0	0	0	0	0	0	1	10114	407	15	4		4	N6AMT1	21	30255333	Silent	SNP	A	TCGA-EJ-5508-01A-02D-1576-08		30255333	17874562	56	2977											
PFKL	5211	broad.mit.edu	37	chr21	45742931	45742931	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctggtggtcggtgggtttgAggtgagagctgcccacggac	5	9	19	8	2	0	2	0	2	0	1	1	4	0	3	1	6	2	3	1	6	0	1			TCGA-EJ-5508-01A-02D-1576-08	TCGA-EJ-5508-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	275b578d-a786-4fdc-a995-5ab0505d68ee	1e2392d3-82f0-4f1e-b949-a0a634c87743	g.chr21:45742931A>G	ENST00000349048.4	+	15	1551	c.1496A>G	c.(1495-1497)gAg>gGg	p.E499G	PFKL_ENST00000403390.1_Splice_Site_p.E546G	NM_002626.4	NP_002617.3	P17858	PFKAL_HUMAN	phosphofructokinase, liver	499	C-terminal regulatory PFK domain 2.				carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|fructose 1,6-bisphosphate metabolic process (GO:0030388)|fructose 6-phosphate metabolic process (GO:0006002)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|negative regulation of insulin secretion (GO:0046676)|protein homotetramerization (GO:0051289)|protein oligomerization (GO:0051259)|response to glucose (GO:0009749)|small molecule metabolic process (GO:0044281)	6-phosphofructokinase complex (GO:0005945)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	6-phosphofructokinase activity (GO:0003872)|ATP binding (GO:0005524)|fructose binding (GO:0070061)|fructose-6-phosphate binding (GO:0070095)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|metal ion binding (GO:0046872)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	23				Colorectal(79;0.0811)		GGTGGGTTTGAGGTGAGAGCT	0.622																																						ENST00000403390.1																			0				cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	23						c.e16+1		phosphofructokinase, liver							132	101	112					21																	45742931		2203	4299	6502	SO:0001630	splice_region_variant	5211				fructose 6-phosphate metabolic process|glycolysis|protein oligomerization	6-phosphofructokinase complex	6-phosphofructokinase activity|ATP binding|fructose-6-phosphate binding|identical protein binding|kinase binding|metal ion binding	g.chr21:45742931A>G		CCDS33582.1	21q22.3	1992-12-17			ENSG00000141959	ENSG00000141959	2.7.1.11		8876	protein-coding gene	gene with protein product		171860					Standard	NR_024108		Approved		uc002zel.3	P17858	OTTHUMG00000086910	ENST00000349048.4:c.1497+1A>G	21.37:g.45742931A>G						PFKL_ENST00000349048.4_Splice_Site_p.E499_splice	p.E546_splice			P17858	K6PL_HUMAN		Colorectal(79;0.0811)	16	1637	+			499					Q96A64|Q96IH4|Q9BR91	Splice_Site	SNP	ENST00000349048.4	37	c.1638_splice	CCDS33582.1	.	.	.	.	.	.	.	.	.	.	A	16.40	3.113423	0.56398	.	.	ENSG00000141959	ENST00000349048;ENST00000534847;ENST00000403390	T;T	0.57595	0.39;0.39	3.54	3.54	0.40534	Phosphofructokinase domain (2);	0.000000	0.85682	U	0.000000	T	0.55194	0.1905	N	0.20357	0.565	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.91635	0.999;0.988	T	0.59584	-0.7427	10	0.87932	D	0	-31.0891	10.341	0.43877	1.0:0.0:0.0:0.0	.	499;546	P17858;P17858-2	K6PL_HUMAN;.	G	499;292;546	ENSP00000269848:E499G;ENSP00000384038:E546G	ENSP00000269848:E499G	E	+	2	0	PFKL	44567359	1.000000	0.71417	0.960000	0.40013	0.122000	0.20287	4.770000	0.62309	1.384000	0.46424	0.402000	0.26972	GAG		0.622	PFKL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195805.1		Missense_Mutation	3	106	0	0	0	0.115264	0	3	106					G	45742931	A	G	45742931	5	3	57	1	0	0	0	0	0	0	1	0	11764	318	11	4	1554	4	PFKL	21	45742931	Splice_Site	SNP	A	TCGA-EJ-5508-01A-02D-1576-08	15487598	45742931	2386964	57	2978											
PIGA	5277	broad.mit.edu	37	chrX	15342939	15342939	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tactgaaggctcacataaaaTaataaggttttctggaagca	16	11	8	6	0	2	1	1	1	1	0	2	2	2	2	0	3	2	3	0	3	7	6			TCGA-EJ-5508-01A-02D-1576-08	TCGA-EJ-5508-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	275b578d-a786-4fdc-a995-5ab0505d68ee	1e2392d3-82f0-4f1e-b949-a0a634c87743	g.chrX:15342939T>C	ENST00000333590.4	-	5	1120	c.1036A>G	c.(1036-1038)Att>Gtt	p.I346V	PIGA_ENST00000542278.1_Missense_Mutation_p.I112V|PIGA_ENST00000482148.1_5'UTR|PIGA_ENST00000428964.1_Missense_Mutation_p.I31V	NM_002641.3	NP_002632.1	P37287	PIGA_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class A	346					C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|GPI anchor biosynthetic process (GO:0006506)|positive regulation of metabolic process (GO:0009893)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)	endoplasmic reticulum membrane (GO:0005789)|glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex (GO:0000506)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	phosphatidylinositol N-acetylglucosaminyltransferase activity (GO:0017176)|UDP-glycosyltransferase activity (GO:0008194)	p.I346V(1)		endometrium(2)|kidney(2)|large_intestine(2)|ovary(1)|prostate(2)|urinary_tract(1)	10	Hepatocellular(33;0.183)					TCACATAAAATAATAAGGTTT	0.383																																						ENST00000333590.4																			1	Substitution - Missense(1)	p.I346V(1)	prostate(1)	endometrium(2)|kidney(2)|large_intestine(2)|ovary(1)|prostate(2)|urinary_tract(1)	10						c.(1036-1038)Att>Gtt		phosphatidylinositol glycan anchor biosynthesis, class A							65	63	64					X																	15342939		2202	4298	6500	SO:0001583	missense	5277				C-terminal protein lipidation|positive regulation of metabolic process|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex|integral to membrane	phosphatidylinositol N-acetylglucosaminyltransferase activity|protein binding	g.chrX:15342939T>C	BC038236	CCDS14165.1, CCDS48086.1, CCDS48086.2	Xp22.1	2014-09-17	2008-07-31		ENSG00000165195	ENSG00000165195	2.4.1.198	"Glycosyltransferase group 1 domain containing", "Phosphatidylinositol glycan anchor biosynthesis"	8957	protein-coding gene	gene with protein product	"paroxysmal nocturnal hemoglobinuria", "phosphatidylinositol N-acetylglucosaminyltransferase"	311770	"phosphatidylinositol glycan, class A (paroxysmal nocturnal hemoglobinuria)"			8500164	Standard	NM_002641		Approved	GPI3	uc004cwr.3	P37287	OTTHUMG00000021174	ENST00000333590.4:c.1036A>G	X.37:g.15342939T>C	ENSP00000369820:p.Ile346Val					PIGA_ENST00000482148.1_5'UTR|PIGA_ENST00000428964.1_Missense_Mutation_p.I31V|PIGA_ENST00000542278.1_Missense_Mutation_p.I112V	p.I346V	NM_002641.3	NP_002632.1	P37287	PIGA_HUMAN			5	1120	-	Hepatocellular(33;0.183)		346					B4E0V2|Q16025|Q16250	Missense_Mutation	SNP	ENST00000333590.4	37	c.1036A>G	CCDS14165.1	.	.	.	.	.	.	.	.	.	.	T	8.800	0.932615	0.18131	.	.	ENSG00000165195	ENST00000542278;ENST00000333590;ENST00000428964	T;T;T	0.79554	-1.28;-0.93;-1.28	5.99	4.83	0.62350	Glycosyl transferase, family 1 (1);	0.046640	0.85682	D	0.000000	T	0.71005	0.3289	L	0.38175	1.15	0.40687	D	0.982369	B;B;B	0.17667	0.001;0.023;0.001	B;B;B	0.26517	0.004;0.07;0.002	T	0.61811	-0.6986	10	0.16896	T	0.51	-13.532	10.2438	0.43328	0.0:0.0772:0.0:0.9228	.	112;177;346	B4E0V2;P37287-2;P37287	.;.;PIGA_HUMAN	V	112;346;31	ENSP00000442653:I112V;ENSP00000369820:I346V;ENSP00000416102:I31V	ENSP00000369820:I346V	I	-	1	0	PIGA	15252860	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.627000	0.61276	0.884000	0.36064	0.486000	0.48141	ATT		0.383	PIGA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055854.1	NM_002641		5	118	0	0	0	0.184627	0	5	118					C	15342939	T	C	15342939	3	2	57	1	0	0	0	0	1	0	0	0	11884	1406	49	4	426	4	PIGA	23	15342939	Missense_Mutation	SNP	T	TCGA-EJ-5508-01A-02D-1576-08		15342939	139927621	58	2979											
HUWE1	10075	broad.mit.edu	37	chrX	53657925	53657925	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagtctggcctgaactgccTgcaatcgcttcctgtgatta	7	12	10	12	1	1	2	0	2	1	0	3	2	2	2	3	1	3	3	3	1	3	2			TCGA-EJ-5508-01A-02D-1576-08	TCGA-EJ-5508-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	275b578d-a786-4fdc-a995-5ab0505d68ee	1e2392d3-82f0-4f1e-b949-a0a634c87743	g.chrX:53657925T>C	ENST00000342160.3	-	11	1281	c.824A>G	c.(823-825)cAg>cGg	p.Q275R	HUWE1_ENST00000218328.8_Missense_Mutation_p.Q275R|HUWE1_ENST00000262854.6_Missense_Mutation_p.Q275R			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	275					base-excision repair (GO:0006284)|cell differentiation (GO:0030154)|histone ubiquitination (GO:0016574)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						CTGAACTGCCTGCAATCGCTT	0.393																																						ENST00000342160.3																			0				NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						c.(823-825)cAg>cGg		HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase							81	74	76					X																	53657925		2203	4299	6502	SO:0001583	missense	10075				base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity	g.chrX:53657925T>C	AB071605	CCDS35301.1	Xp11.22	2014-06-09	2012-02-23		ENSG00000086758	ENSG00000086758			30892	protein-coding gene	gene with protein product		300697	"HECT, UBA and WWE domain containing 1"			9205841, 10998601	Standard	NM_031407		Approved	Ib772, KIAA0312, UREB1	uc004dsp.4	Q7Z6Z7	OTTHUMG00000021617	ENST00000342160.3:c.824A>G	X.37:g.53657925T>C	ENSP00000340648:p.Gln275Arg					HUWE1_ENST00000218328.8_Missense_Mutation_p.Q275R|HUWE1_ENST00000262854.6_Missense_Mutation_p.Q275R	p.Q275R			Q7Z6Z7	HUWE1_HUMAN			11	1281	-			275					O15029|Q4G2Z2|Q5H961|Q6P4D0|Q8NG67|Q9BUI0|Q9HCJ4|Q9NSL6|Q9P0A9	Missense_Mutation	SNP	ENST00000342160.3	37	c.824A>G	CCDS35301.1	.	.	.	.	.	.	.	.	.	.	T	15.72	2.917423	0.52546	.	.	ENSG00000086758	ENST00000342160;ENST00000262854;ENST00000218328	T;T;T	0.64991	-0.13;-0.13;0.88	4.81	4.81	0.61882	E3 ubiquitin ligase, domain of unknown function DUF908 (1);Armadillo-type fold (1);	0.237456	0.34725	N	0.003725	T	0.48352	0.1495	N	0.20574	0.59	0.53005	D	0.99996	P	0.37573	0.6	B	0.39299	0.296	T	0.48514	-0.9029	10	0.33940	T	0.23	.	12.4765	0.55817	0.0:0.0:0.0:1.0	.	275	Q7Z6Z7	HUWE1_HUMAN	R	275	ENSP00000340648:Q275R;ENSP00000262854:Q275R;ENSP00000218328:Q275R	ENSP00000218328:Q275R	Q	-	2	0	HUWE1	53674650	1.000000	0.71417	0.992000	0.48379	0.948000	0.59901	7.313000	0.78978	1.788000	0.52465	0.486000	0.48141	CAG		0.393	HUWE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056766.1	XM_497119		3	112	0	0	0	0.150653	0	3	112					C	53657925	T	C	53657925	3	2	57	1	0	0	0	0	1	0	0	0	7461	1580	55	4	12592	4	HUWE1	23	53657925	Missense_Mutation	SNP	T	TCGA-EJ-5508-01A-02D-1576-08	38314986	53657925	101612635	59	2980											
ATRX	546	broad.mit.edu	37	chrX	76940433	76940433	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctcatctatattacctacctAcattgttcatccattccatc	10	16	1	14	0	3	0	2	0	1	0	6	0	5	0	4	0	3	1	4	0	5	8			TCGA-EJ-5508-01A-02D-1576-08	TCGA-EJ-5508-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	275b578d-a786-4fdc-a995-5ab0505d68ee	1e2392d3-82f0-4f1e-b949-a0a634c87743	g.chrX:76940433A>C	ENST00000373344.5	-	8	874	c.660T>G	c.(658-660)tgT>tgG	p.C220W	ATRX_ENST00000395603.3_Missense_Mutation_p.C182W|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	220	ADD. {ECO:0000255|PROSITE- ProRule:PRU00865}.		C -> R (in ATRX).|C -> Y (in MRXSHF1). {ECO:0000269|PubMed:11050622}.		ATP catabolic process (GO:0006200)|cellular response to hydroxyurea (GO:0072711)|chromatin remodeling (GO:0006338)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA methylation (GO:0006306)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication-independent nucleosome assembly (GO:0006336)|forebrain development (GO:0030900)|negative regulation of telomeric RNA transcription from RNA pol II promoter (GO:1901581)|nucleosome assembly (GO:0006334)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|replication fork processing (GO:0031297)|seminiferous tubule development (GO:0072520)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear heterochromatin (GO:0005720)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF superfamily-type complex (GO:0070603)|telomeric heterochromatin (GO:0031933)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|helicase activity (GO:0004386)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)	p.C220W(2)|p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						TTACCTACCTACATTGTTCAT	0.328			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome																															ENST00000373344.5				Rec	yes		X	Xq21.1	546	"Mis, F, N"	alpha thalassemia/mental retardation syndrome X-linked	yes	ATR-X (alpha thalassemia/mental retardation) syndrome	E			"Pancreatic neuroendocrine tumors, paediatric GBM"		3	Substitution - Missense(2)|Unknown(1)	p.C220W(2)|p.?(1)	prostate(2)|bone(1)	bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						c.(658-660)tgT>tgG		alpha thalassemia/mental retardation syndrome X-linked	Phosphatidylserine(DB00144)						153	129	137					X																	76940433		2203	4292	6495	SO:0001583	missense	546				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	g.chrX:76940433A>C	U72937	CCDS14434.1, CCDS14435.1	Xq21.1	2014-06-17	2010-06-24		ENSG00000085224	ENSG00000085224			886	protein-coding gene	gene with protein product	"RAD54 homolog (S. cerevisiae)"	300032	"alpha thalassemia/mental retardation syndrome X-linked (RAD54 (S. cerevisiae) homolog)", "Juberg-Marsidi syndrome"	RAD54, JMS		7874112, 1415255, 8503439, 8630485	Standard	NM_000489		Approved	XH2, XNP	uc004ecp.4	P46100	OTTHUMG00000022686	ENST00000373344.5:c.660T>G	X.37:g.76940433A>C	ENSP00000362441:p.Cys220Trp					ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Missense_Mutation_p.C182W	p.C220W	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN			8	874	-			220		C -> R (in ATRX).|C -> Y (in MRXSHF1).	ADD.		D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Missense_Mutation	SNP	ENST00000373344.5	37	c.660T>G	CCDS14434.1	.	.	.	.	.	.	.	.	.	.	A	13.93	2.383536	0.42207	.	.	ENSG00000085224	ENST00000373344;ENST00000395603;ENST00000400862	D;D	0.99399	-5.83;-5.83	5.54	4.36	0.52297	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (1);Zinc finger, FYVE/PHD-type (1);	0.119578	0.64402	D	0.000020	D	0.99402	0.9789	M	0.85945	2.785	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.997;1.0;0.999;0.998	D	0.99395	1.0926	10	0.87932	D	0	-15.232	8.3363	0.32217	0.8435:0.0:0.1565:0.0	.	220;181;182;220	A4LAA3;P46100-6;P46100-4;P46100	.;.;.;ATRX_HUMAN	W	220;182;176	ENSP00000362441:C220W;ENSP00000378967:C182W	ENSP00000362441:C220W	C	-	3	2	ATRX	76827089	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	3.004000	0.49513	1.844000	0.53588	0.345000	0.21793	TGT		0.328	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489		4	134	0	0	0	0.150653	0	4	134					C	76940433	A	C	76940433	3	2	57	1	0	0	0	0	1	0	0	0	1208	389	14	5	6930	5	ATRX	23	76940433	Missense_Mutation	SNP	A	TCGA-EJ-5508-01A-02D-1576-08	23282508	76940433	78330127	60	2981											
HTATSF1	27336	broad.mit.edu	37	chrX	135593930	135593930	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgaaaagctgtttgaagagTcagatgacaaggaagatgaa	18	8	12	3	0	1	7	1	4	0	3	1	8	1	8	0	1	1	2	0	1	6	1			TCGA-EJ-5508-01A-02D-1576-08	TCGA-EJ-5508-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	275b578d-a786-4fdc-a995-5ab0505d68ee	1e2392d3-82f0-4f1e-b949-a0a634c87743	g.chrX:135593930T>G	ENST00000218364.4	+	9	2200	c.2026T>G	c.(2026-2028)Tca>Gca	p.S676A	HTATSF1_ENST00000535601.1_Missense_Mutation_p.S676A	NM_014500.4	NP_055315.2	O43719	HTSF1_HUMAN	HIV-1 Tat specific factor 1	676	Asp/Glu-rich (acidic).|Mediates interaction with the P-TEFb complex.				regulation of DNA-templated transcription, elongation (GO:0032784)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|viral genome replication (GO:0019079)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.S676A(1)		NS(1)|biliary_tract(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(14)|ovary(3)|prostate(1)	30	Acute lymphoblastic leukemia(192;0.000127)					GTTTGAAGAGTCAGATGACAA	0.403																																						ENST00000535601.1																			1	Substitution - Missense(1)	p.S676A(1)	prostate(1)	NS(1)|biliary_tract(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(14)|ovary(3)|prostate(1)	30						c.(2026-2028)Tca>Gca		HIV-1 Tat specific factor 1							205	177	187					X																	135593930		2203	4300	6503	SO:0001583	missense	27336				regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|viral genome replication	nucleus	nucleotide binding|protein binding|RNA binding	g.chrX:135593930T>G	U76992	CCDS14657.1	Xq26.3	2013-02-12	2006-01-09		ENSG00000102241	ENSG00000102241		"RNA binding motif (RRM) containing"	5276	protein-coding gene	gene with protein product		300346	"HIV TAT specific factor 1"			8849451	Standard	NM_014500		Approved	TAT-SF1	uc004ezx.3	O43719	OTTHUMG00000022510	ENST00000218364.4:c.2026T>G	X.37:g.135593930T>G	ENSP00000218364:p.Ser676Ala					HTATSF1_ENST00000218364.4_Missense_Mutation_p.S676A	p.S676A	NM_001163280.1	NP_001156752.1	O43719	HTSF1_HUMAN			10	2448	+	Acute lymphoblastic leukemia(192;0.000127)		676			Asp/Glu-rich (acidic).|Mediates interaction with the P-TEFb complex.		D3DWG9|Q59G06|Q99730	Missense_Mutation	SNP	ENST00000218364.4	37	c.2026T>G	CCDS14657.1	.	.	.	.	.	.	.	.	.	.	T	8.533	0.871429	0.17322	.	.	ENSG00000102241	ENST00000535601;ENST00000218364	T;T	0.05447	3.44;3.44	3.85	3.85	0.44370	.	0.184974	0.26594	N	0.023505	T	0.05914	0.0154	N	0.19112	0.55	0.24165	N	0.995648	P	0.49961	0.93	P	0.48627	0.584	T	0.23797	-1.0178	10	0.66056	D	0.02	-2.1924	5.1082	0.14794	0.0:0.1305:0.0:0.8695	.	676	O43719	HTSF1_HUMAN	A	676	ENSP00000442699:S676A;ENSP00000218364:S676A	ENSP00000218364:S676A	S	+	1	0	HTATSF1	135421596	0.001000	0.12720	0.444000	0.26895	0.289000	0.27227	0.575000	0.23729	1.745000	0.51790	0.425000	0.28330	TCA		0.403	HTATSF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058497.1	NM_014500		6	66	0	0	0	0.248553	0	6	66					G	135593930	T	G	135593930	3	3	57	1	0	0	0	0	1	0	0	0	7433	1667	58	5	2060	5	HTATSF1	23	135593930	Missense_Mutation	SNP	T	TCGA-EJ-5508-01A-02D-1576-08	58653497	135593930	19676630	61	2982											
PALMD	54873	broad.mit.edu	37	chr1	100152323	100152323	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agaaactaaagtcaattgagCggacaacagaagacattata	20	7	8	6	1	1	4	1	1	0	3	1	5	1	5	0	1	3	0	0	1	8	4			TCGA-EJ-5509-01A-01D-1576-08	TCGA-EJ-5509-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fb0dad4-c9d6-4c38-9d1e-ee258dc133cb	a6bcbcc8-3e2b-454f-933d-cf8a793858c6	g.chr1:100152323C>T	ENST00000263174.4	+	4	718	c.343C>T	c.(343-345)Cgg>Tgg	p.R115W	PALMD_ENST00000605497.1_Missense_Mutation_p.R115W	NM_017734.4	NP_060204.1	Q9NP74	PALMD_HUMAN	palmdelphin	115					regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|membrane (GO:0016020)		p.R115W(2)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(8)|ovary(6)|pancreas(1)|prostate(2)	31		all_epithelial(167;0.000813)|all_lung(203;0.0214)|Lung NSC(277;0.0216)		Epithelial(280;0.067)|all cancers(265;0.117)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)		GTCAATTGAGCGGACAACAGA	0.333																																						ENST00000263174.4																			2	Substitution - Missense(2)	p.R115W(2)	large_intestine(1)|prostate(1)	central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(8)|ovary(6)|pancreas(1)|prostate(2)	31						c.(343-345)Cgg>Tgg		palmdelphin							83	91	88					1																	100152323		2203	4300	6503	SO:0001583	missense	54873				regulation of cell shape	cytoplasm|membrane		g.chr1:100152323C>T	AJ312214	CCDS758.1	1p22-p21	2008-07-18			ENSG00000099260	ENSG00000099260			15846	protein-coding gene	gene with protein product		610182		C1orf11		11478809	Standard	NM_017734		Approved	FLJ20271, PALML	uc001dsg.3	Q9NP74	OTTHUMG00000010764	ENST00000263174.4:c.343C>T	1.37:g.100152323C>T	ENSP00000263174:p.Arg115Trp					PALMD_ENST00000605497.1_Missense_Mutation_p.R115W	p.R115W	NM_017734.4	NP_060204.1	Q9NP74	PALMD_HUMAN		Epithelial(280;0.067)|all cancers(265;0.117)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)	4	718	+		all_epithelial(167;0.000813)|all_lung(203;0.0214)|Lung NSC(277;0.0216)	115					Q9H7E6|Q9NPM5|Q9NPM6|Q9NPS0	Missense_Mutation	SNP	ENST00000263174.4	37	c.343C>T	CCDS758.1	.	.	.	.	.	.	.	.	.	.	C	19.15	3.772301	0.69992	.	.	ENSG00000099260	ENST00000263174	T	0.17370	2.28	5.87	3.52	0.40303	.	0.191850	0.56097	D	0.000039	T	0.24547	0.0595	L	0.56769	1.78	0.34706	D	0.727288	D;D	0.89917	1.0;1.0	D;D	0.78314	0.991;0.984	T	0.08743	-1.0707	10	0.87932	D	0	-9.4698	13.0487	0.58942	0.735:0.2649:0.0:0.0	.	115;35	Q9NP74;Q9NP74-2	PALMD_HUMAN;.	W	115	ENSP00000263174:R115W	ENSP00000263174:R115W	R	+	1	2	PALMD	99924911	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	3.301000	0.51842	0.545000	0.28902	-0.262000	0.10625	CGG		0.333	PALMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029672.1	NM_017734		25	99	0	0	0	1	0	25	99					T	100152323	C	T	100152323	3	4	58	1	0	0	0	0	1	0	0	0	11411	759	27	1	357	1	PALMD	1	100152323	Missense_Mutation	SNP	C	TCGA-EJ-5509-01A-01D-1576-08		100152323	149098298	1	2983											
C1orf85	112770	broad.mit.edu	37	chr1	156263002	156263002	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cacacccaggagcatcgaccTagagcaagcagagagagaga	16	2	12	11	1	0	4	0	0	0	4	1	8	0	5	2	1	3	3	2	1	2	1			TCGA-EJ-5509-01A-01D-1576-08	TCGA-EJ-5509-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fb0dad4-c9d6-4c38-9d1e-ee258dc133cb	a6bcbcc8-3e2b-454f-933d-cf8a793858c6	g.chr1:156263002T>C	ENST00000362007.1	-	6	1082		c.e6-2		C1orf85_ENST00000482579.1_Splice_Site	NM_001256604.1|NM_001256609.1|NM_144580.2	NP_001243533.1|NP_001243538.1|NP_653181.1	Q8WWB7	NCUG1_HUMAN	chromosome 1 open reading frame 85						intracellular receptor signaling pathway (GO:0030522)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|nucleus (GO:0005634)	ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)	p.?(1)		breast(2)|endometrium(2)|large_intestine(1)|lung(2)|ovary(2)|prostate(2)|skin(3)	14	Hepatocellular(266;0.158)					AGCATCGACCTAGAGCAAGCA	0.622																																						ENST00000362007.1																			1	Unknown(1)	p.?(1)	prostate(1)	breast(2)|endometrium(2)|large_intestine(1)|lung(2)|ovary(2)|prostate(2)|skin(3)	14						c.e6-2		chromosome 1 open reading frame 85							67	63	64					1																	156263002		2203	4300	6503	SO:0001630	splice_region_variant	112770				positive regulation of transcription from RNA polymerase II promoter	cytosol|integral to membrane|lysosomal membrane|nucleus	ligand-dependent nuclear receptor activity|protein binding transcription factor activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	g.chr1:156263002T>C	BC011575	CCDS1139.1, CCDS72947.1, CCDS72948.1, CCDS72949.1	1q22	2014-08-07			ENSG00000198715	ENSG00000198715			29436	protein-coding gene	gene with protein product	"kidney lysosomal membrane protein"					12975309, 18021396, 19489740	Standard	NM_144580		Approved	MGC31963, NCU-G1	uc001foh.4	Q8WWB7	OTTHUMG00000019789	ENST00000362007.1:c.1056-2A>G	1.37:g.156263002T>C						C1orf85_ENST00000472870.1_Intron		NM_001256604.1|NM_001256609.1|NM_144580.2	NP_001243533.1|NP_001243538.1|NP_653181.1	Q8WWB7	NCUG1_HUMAN			6	1082	-	Hepatocellular(266;0.158)							A6NH16|B4DJN4|Q5SZX4|Q6UX96|Q8IV07|Q96F65	Splice_Site	SNP	ENST00000362007.1	37		CCDS1139.1	.	.	.	.	.	.	.	.	.	.	T	12.38	1.920697	0.33908	.	.	ENSG00000198715	ENST00000362007	.	.	.	5.28	5.28	0.74379	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.2007	0.59765	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	C1orf85	154529626	1.000000	0.71417	0.984000	0.44739	0.249000	0.25844	5.689000	0.68234	2.217000	0.71921	0.379000	0.24179	.		0.622	C1orf85-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052108.1	NM_144580	Intron	3	121	0	0	0	1	0	3	121					C	156263002	T	C	156263002	5	2	58	1	0	0	0	0	0	0	1	0	2062	1536	53	4	170	4	C1orf85	1	156263002	Splice_Site	SNP	T	TCGA-EJ-5509-01A-01D-1576-08	56110679	156263002	92987619	2	2984											
CD48	962	broad.mit.edu	37	chr1	160654892	160654892	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ggtcgaaagtataaaaccagGttagttgtttgtagttctca	12	14	10	5	1	1	0	1	0	1	0	3	1	1	0	1	2	1	6	1	2	6	7			TCGA-EJ-5509-01A-01D-1576-08	TCGA-EJ-5509-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fb0dad4-c9d6-4c38-9d1e-ee258dc133cb	a6bcbcc8-3e2b-454f-933d-cf8a793858c6	g.chr1:160654892G>T	ENST00000368046.3	-	2	257	c.170C>A	c.(169-171)aCc>aAc	p.T57N	RP11-404F10.2_ENST00000588034.1_RNA|CD48_ENST00000368045.3_Missense_Mutation_p.T57N|RP11-404F10.2_ENST00000598917.2_RNA|RP11-404F10.2_ENST00000443928.2_RNA	NM_001778.3	NP_001769.2	P09326	CD48_HUMAN	CD48 molecule	57	Ig-like C2-type 1.				blood coagulation (GO:0007596)|defense response (GO:0006952)|leukocyte migration (GO:0050900)|mast cell activation (GO:0045576)|signal transduction (GO:0007165)|T cell activation (GO:0042110)	anchored component of plasma membrane (GO:0046658)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	antigen binding (GO:0003823)|receptor activity (GO:0004872)	p.T57N(1)		breast(2)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|stomach(1)	10	all_cancers(52;2.18e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)			ATAAAACCAGGTTAGTTGTTT	0.438																																						ENST00000368045.3																			1	Substitution - Missense(1)	p.T57N(1)	prostate(1)	breast(2)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|stomach(1)	10						c.(169-171)aCc>aAc		CD48 molecule							81	87	85					1																	160654892		2203	4300	6503	SO:0001583	missense	962				blood coagulation|defense response|leukocyte migration	integral to plasma membrane|membrane raft	protein binding	g.chr1:160654892G>T	BC016182	CCDS1208.1, CCDS72955.1	1q21.3-q22	2013-01-29	2006-03-31		ENSG00000117091	ENSG00000117091		"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	1683	protein-coding gene	gene with protein product		109530	"CD48 antigen (B-cell membrane protein)", "CD48 molecule "	BCM1		2828034	Standard	NM_001256030		Approved	BLAST, mCD48, hCD48, SLAMF2	uc001fwo.2	P09326	OTTHUMG00000024009	ENST00000368046.3:c.170C>A	1.37:g.160654892G>T	ENSP00000357025:p.Thr57Asn					CD48_ENST00000368046.3_Missense_Mutation_p.T57N	p.T57N			P09326	CD48_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.0175)		2	209	-	all_cancers(52;2.18e-17)|all_hematologic(112;0.093)		57			Ig-like C2-type 1.		Q5U055|Q8MGR0	Missense_Mutation	SNP	ENST00000368046.3	37	c.170C>A	CCDS1208.1	.	.	.	.	.	.	.	.	.	.	G	13.85	2.359118	0.41801	.	.	ENSG00000117091	ENST00000368046;ENST00000368045	T;T	0.65178	-0.14;-0.14	3.6	-0.529	0.11901	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like fold (1);	0.832872	0.11313	N	0.576939	T	0.54498	0.1862	M	0.61703	1.905	0.09310	N	1	P;D;D	0.64830	0.638;0.994;0.994	P;D;D	0.77557	0.623;0.99;0.99	T	0.38394	-0.9663	10	0.39692	T	0.17	-13.1019	2.6221	0.04919	0.1065:0.3488:0.3659:0.1788	.	57;57;57	Q8MGR0;Q6IAZ2;P09326	.;.;CD48_HUMAN	N	57	ENSP00000357025:T57N;ENSP00000357024:T57N	ENSP00000357024:T57N	T	-	2	0	CD48	158921516	0.000000	0.05858	0.000000	0.03702	0.105000	0.19272	-0.171000	0.09883	-0.088000	0.12506	0.462000	0.41574	ACC		0.438	CD48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060471.1	NM_001778		4	112	1	0	0.00909568	1	0.00995376	4	112					T	160654892	G	T	160654892	3	4	58	1	0	0	0	0	1	0	0	0	3020	1261	44	5	573	5	CD48	1	160654892	Missense_Mutation	SNP	G	TCGA-EJ-5509-01A-01D-1576-08	4391890	160654892	88595729	3	2985											
DHX9	1660	broad.mit.edu	37	chr1	182812496	182812496	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	taaaaaagatgcacaaagcaAtgctgccagagactttgtta	17	9	8	7	0	0	2	0	0	0	2	0	3	0	2	1	0	4	4	1	0	6	3			TCGA-EJ-5509-01A-01D-1576-08	TCGA-EJ-5509-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fb0dad4-c9d6-4c38-9d1e-ee258dc133cb	a6bcbcc8-3e2b-454f-933d-cf8a793858c6	g.chr1:182812496A>G	ENST00000367549.3	+	3	289	c.179A>G	c.(178-180)aAt>aGt	p.N60S		NM_001357.4	NP_001348.2	Q08211	DHX9_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 9	60	DRBM 1. {ECO:0000255|PROSITE- ProRule:PRU00266}.|Interaction with CREBBP.				ATP catabolic process (GO:0006200)|cellular response to heat (GO:0034605)|circadian rhythm (GO:0007623)|CRD-mediated mRNA stabilization (GO:0070934)|DNA duplex unwinding (GO:0032508)|gene expression (GO:0010467)|innate immune response (GO:0045087)|mRNA splicing, via spliceosome (GO:0000398)|osteoblast differentiation (GO:0001649)|positive regulation of type I interferon production (GO:0032481)|RNA splicing (GO:0008380)	centrosome (GO:0005813)|CRD-mediated mRNA stability complex (GO:0070937)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|ATP-dependent RNA helicase activity (GO:0004004)|DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724)|RNA polymerase II transcription factor binding (GO:0001085)	p.N60S(1)		NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(10)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	49						GCACAAAGCAATGCTGCCAGA	0.363																																					Colon(69;210 1162 3697 13559 39565)	ENST00000367549.3																			1	Substitution - Missense(1)	p.N60S(1)	prostate(1)	NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(10)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	49						c.(178-180)aAt>aGt		DEAH (Asp-Glu-Ala-His) box helicase 9							106	102	103					1																	182812496		1824	4077	5901	SO:0001583	missense	1660				CRD-mediated mRNA stabilization|nuclear mRNA splicing, via spliceosome	centrosome|CRD-mediated mRNA stability complex|nucleolus|nucleoplasm|ribonucleoprotein complex	ATP binding|ATP-dependent DNA helicase activity|ATP-dependent RNA helicase activity|DNA binding|double-stranded RNA binding|protein binding	g.chr1:182812496A>G	L13848	CCDS41444.1	1q25	2013-05-13	2013-05-13	2003-06-20	ENSG00000135829	ENSG00000135829		"DEAH-boxes"	2750	protein-coding gene	gene with protein product	"NDH II", "RNA helicase A"	603115	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 9 (RNA helicase A, nuclear DNA helicase II; leukophysin)", "DEAH (Asp-Glu-Ala-His) box polypeptide 9"	LKP, DDX9		8344961, 9111062	Standard	NM_001357		Approved	RHA	uc001gpr.3	Q08211	OTTHUMG00000035337	ENST00000367549.3:c.179A>G	1.37:g.182812496A>G	ENSP00000356520:p.Asn60Ser						p.N60S	NM_001357.4	NP_001348.2	Q08211	DHX9_HUMAN			3	289	+			60			DRBM 1.|Interaction with CREBBP.		B2RNV4|Q05CI5|Q12803|Q32Q22|Q5VY62|Q6PD69|Q99556	Missense_Mutation	SNP	ENST00000367549.3	37	c.179A>G	CCDS41444.1	.	.	.	.	.	.	.	.	.	.	A	24.9	4.582292	0.86748	.	.	ENSG00000135829	ENST00000399175;ENST00000367549	T	0.75260	-0.92	5.63	5.63	0.86233	Double-stranded RNA-binding (3);Double-stranded RNA-binding-like (1);	0.000000	0.85682	D	0.000000	D	0.86957	0.6058	M	0.82323	2.585	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.88723	0.3231	10	0.72032	D	0.01	.	15.1117	0.72362	1.0:0.0:0.0:0.0	.	60	Q08211	DHX9_HUMAN	S	60	ENSP00000356520:N60S	ENSP00000356520:N60S	N	+	2	0	DHX9	181079119	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	8.469000	0.90395	2.263000	0.75096	0.533000	0.62120	AAT		0.363	DHX9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085522.2	NM_030588		3	135	0	0	0	1	0	3	135					G	182812496	A	G	182812496	3	3	58	1	0	0	0	0	1	0	0	0	4516	101	4	4	185	4	DHX9	1	182812496	Missense_Mutation	SNP	A	TCGA-EJ-5509-01A-01D-1576-08	22157604	182812496	66438125	4	2986											
C1orf101	257044	broad.mit.edu	37	chr1	244716060	244716060	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaattgtaaatcttcctgatGgtggaattactggcatttca	11	15	9	6	0	2	1	1	1	1	0	3	3	3	2	1	3	1	2	1	3	5	5			TCGA-EJ-5509-01A-01D-1576-08	TCGA-EJ-5509-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fb0dad4-c9d6-4c38-9d1e-ee258dc133cb	a6bcbcc8-3e2b-454f-933d-cf8a793858c6	g.chr1:244716060G>A	ENST00000366534.4	+	9	1027	c.973G>A	c.(973-975)Ggt>Agt	p.G325S	C1orf101_ENST00000473875.1_Intron|C1orf101_ENST00000366531.3_Missense_Mutation_p.G174S|C1orf101_ENST00000366533.4_Missense_Mutation_p.G325S	NM_001130957.1	NP_001124429.1	Q5SY80	CA101_HUMAN	chromosome 1 open reading frame 101	325						CatSper complex (GO:0036128)		p.G325S(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3)	36	all_cancers(71;2.99e-05)|all_epithelial(71;0.00015)|all_neural(11;0.0269)|Breast(184;0.0654)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0874)|Lung NSC(105;0.121)		all cancers(7;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(106;0.001)|GBM - Glioblastoma multiforme(7;0.0154)			TCTTCCTGATGGTGGAATTAC	0.284																																						ENST00000366534.4																			1	Substitution - Missense(1)	p.G325S(1)	prostate(1)	NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3)	36						c.(973-975)Ggt>Agt		chromosome 1 open reading frame 101							92	95	94					1																	244716060		2203	4300	6503	SO:0001583	missense	257044					integral to membrane		g.chr1:244716060G>A	BC032859	CCDS1625.1, CCDS44340.1, CCDS55693.1	1q44	2012-12-20			ENSG00000179397	ENSG00000179397			28491	protein-coding gene	gene with protein product						12477932	Standard	NM_173807		Approved	MGC33370	uc001iam.3	Q5SY80	OTTHUMG00000040103	ENST00000366534.4:c.973G>A	1.37:g.244716060G>A	ENSP00000355492:p.Gly325Ser					C1orf101_ENST00000366531.3_Missense_Mutation_p.G174S|C1orf101_ENST00000473875.1_Intron|C1orf101_ENST00000366533.4_Missense_Mutation_p.G325S	p.G325S	NM_001130957.1	NP_001124429.1	Q5SY80	CA101_HUMAN	all cancers(7;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(106;0.001)|GBM - Glioblastoma multiforme(7;0.0154)		9	1027	+	all_cancers(71;2.99e-05)|all_epithelial(71;0.00015)|all_neural(11;0.0269)|Breast(184;0.0654)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0874)|Lung NSC(105;0.121)		325					B4DZR4|B7Z7X5|E9PEA3|Q8IYZ6	Missense_Mutation	SNP	ENST00000366534.4	37	c.973G>A	CCDS44340.1	.	.	.	.	.	.	.	.	.	.	G	10.10	1.257644	0.22965	.	.	ENSG00000179397	ENST00000391841;ENST00000366534;ENST00000366533;ENST00000428042;ENST00000366531	T;T;T	0.29142	1.58;1.58;1.58	4.82	-3.77	0.04346	.	1.766020	0.02817	N	0.125119	T	0.19525	0.0469	L	0.27053	0.805	0.09310	N	1	B;B;B	0.17268	0.021;0.021;0.019	B;B;B	0.17722	0.012;0.012;0.019	T	0.34625	-0.9821	10	0.05959	T	0.93	.	11.1348	0.48368	0.7483:0.0:0.2517:0.0	.	245;325;325	B1AQM6;Q5SY80;Q5SY80-2	.;CA101_HUMAN;.	S	325;325;325;245;174	ENSP00000355492:G325S;ENSP00000355491:G325S;ENSP00000395796:G245S	ENSP00000355489:G174S	G	+	1	0	C1orf101	242782683	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-0.399000	0.07250	-0.582000	0.05929	-0.140000	0.14226	GGT		0.284	C1orf101-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096701.1	NM_173807		4	155	0	0	0	1	0	4	155					A	244716060	G	A	244716060	3	1	58	1	0	0	0	0	1	0	0	0	1976	1348	47	3	1007	3	C1orf101	1	244716060	Missense_Mutation	SNP	G	TCGA-EJ-5509-01A-01D-1576-08	61903564	244716060	4534561	5	2987											
CNGA3	1261	broad.mit.edu	37	chr2	99012981	99012981	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acctgtgggccaacaagaagAcggtggatgagaaggaggtg	13	5	17	6	1	0	3	0	1	0	3	0	6	0	5	2	5	1	0	2	5	4	0			TCGA-EJ-5509-01A-01D-1576-08	TCGA-EJ-5509-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fb0dad4-c9d6-4c38-9d1e-ee258dc133cb	a6bcbcc8-3e2b-454f-933d-cf8a793858c6	g.chr2:99012981A>G	ENST00000272602.2	+	7	1387	c.1348A>G	c.(1348-1350)Acg>Gcg	p.T450A	CNGA3_ENST00000436404.2_Missense_Mutation_p.T432A|CNGA3_ENST00000409937.1_Missense_Mutation_p.T454A|CNGA3_ENST00000393504.1_Missense_Mutation_p.T450A			Q16281	CNGA3_HUMAN	cyclic nucleotide gated channel alpha 3	450					cation transport (GO:0006812)|phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|response to cAMP (GO:0051591)|response to corticosteroid (GO:0031960)|response to magnesium ion (GO:0032026)|retinal cone cell development (GO:0046549)|signal transduction (GO:0007165)|transport (GO:0006810)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|perikaryon (GO:0043204)|photoreceptor outer segment membrane (GO:0042622)|transmembrane transporter complex (GO:1902495)	cGMP binding (GO:0030553)|intracellular cAMP activated cation channel activity (GO:0005222)|intracellular cGMP activated cation channel activity (GO:0005223)|ligand-gated ion channel activity (GO:0015276)|voltage-gated potassium channel activity (GO:0005249)	p.T450A(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(17)|ovary(5)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)	49						CAACAAGAAGACGGTGGATGA	0.537																																						ENST00000393504.1																			1	Substitution - Missense(1)	p.T450A(1)	prostate(1)	breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(17)|ovary(5)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)	49						c.(1348-1350)Acg>Gcg		cyclic nucleotide gated channel alpha 3							63	61	62					2																	99012981		2203	4300	6503	SO:0001583	missense	1261				signal transduction|visual perception	integral to membrane	cGMP binding	g.chr2:99012981A>G	S76069	CCDS2034.1, CCDS42719.1	2q11.2	2013-01-08			ENSG00000144191	ENSG00000144191		"Voltage-gated ion channels / Cyclic nucleotide-regulated channels"	2150	protein-coding gene	gene with protein product		600053		CNCG3, ACHM2		7532814, 9517456, 16382102	Standard	NM_001298		Approved	CCNC1, CCNCa, CNG3	uc002syt.3	Q16281	OTTHUMG00000130561	ENST00000272602.2:c.1348A>G	2.37:g.99012981A>G	ENSP00000272602:p.Thr450Ala					CNGA3_ENST00000272602.2_Missense_Mutation_p.T450A|CNGA3_ENST00000409937.1_Missense_Mutation_p.T454A|CNGA3_ENST00000436404.2_Missense_Mutation_p.T432A	p.T450A	NM_001298.2	NP_001289.1	Q16281	CNGA3_HUMAN			8	1765	+			450					E9PF93|Q4VAP7|Q53RD2|Q6ZNA7|Q9UP64	Missense_Mutation	SNP	ENST00000272602.2	37	c.1348A>G	CCDS2034.1	.	.	.	.	.	.	.	.	.	.	A	8.661	0.900579	0.17686	.	.	ENSG00000144191	ENST00000393504;ENST00000436404;ENST00000272602;ENST00000409937	D;D;D;D	0.96554	-4.05;-4.05;-4.05;-4.05	4.85	4.85	0.62838	Cyclic nucleotide-binding-like (1);	0.000000	0.85682	D	0.000000	D	0.90045	0.6891	N	0.12663	0.25	0.51482	D	0.999929	B;B;B	0.19073	0.004;0.01;0.033	B;B;B	0.17722	0.008;0.007;0.019	D	0.86332	0.1699	10	0.11485	T	0.65	.	13.5522	0.61738	1.0:0.0:0.0:0.0	.	454;432;450	E9PF93;Q4VAP7;Q16281	.;.;CNGA3_HUMAN	A	450;432;450;454	ENSP00000377140:T450A;ENSP00000410070:T432A;ENSP00000272602:T450A;ENSP00000386761:T454A	ENSP00000272602:T450A	T	+	1	0	CNGA3	98379413	1.000000	0.71417	0.999000	0.59377	0.990000	0.78478	1.312000	0.33574	2.033000	0.60031	0.460000	0.39030	ACG		0.537	CNGA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252986.1	NM_001298		17	37	0	0	0	1	0	17	37					G	99012981	A	G	99012981	3	3	58	1	0	0	0	0	1	0	0	0	3598	275	10	4	1374	4	CNGA3	2	99012981	Missense_Mutation	SNP	A	TCGA-EJ-5509-01A-01D-1576-08		99012981	144186392	6	2988											
C1QL2	165257	broad.mit.edu	37	chr2	119915187	119915187	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgttcttgcagaggtccgccCacatgctggtgccgtcgccg	4	9	13	15	5	1	1	0	0	1	1	3	1	2	1	4	2	3	3	4	2	0	2			TCGA-EJ-5509-01A-01D-1576-08	TCGA-EJ-5509-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fb0dad4-c9d6-4c38-9d1e-ee258dc133cb	a6bcbcc8-3e2b-454f-933d-cf8a793858c6	g.chr2:119915187C>G	ENST00000272520.3	-	1	1278	c.659G>C	c.(658-660)tGg>tCg	p.W220S		NM_182528.3	NP_872334.2	Q7Z5L3	C1QL2_HUMAN	complement component 1, q subcomponent-like 2	220	C1q. {ECO:0000255|PROSITE- ProRule:PRU00368}.				protein oligomerization (GO:0051259)	collagen trimer (GO:0005581)|extracellular region (GO:0005576)		p.W220S(1)		NS(1)|endometrium(1)|large_intestine(3)|pancreas(1)|prostate(1)	7						GAGGTCCGCCCACATGCTGGT	0.647										HNSCC(49;0.14)																												ENST00000272520.3																			1	Substitution - Missense(1)	p.W220S(1)	prostate(1)	NS(1)|endometrium(1)|large_intestine(3)|pancreas(1)|prostate(1)	7						c.(658-660)tGg>tCg		complement component 1, q subcomponent-like 2							48	53	51					2																	119915187		2201	4300	6501	SO:0001583	missense	165257					collagen		g.chr2:119915187C>G	AF525315	CCDS42737.1	2q14.2	2009-05-20			ENSG00000144119	ENSG00000144119			24181	protein-coding gene	gene with protein product	"C1q and tumor necrosis factor related protein 10"	614330				18783346	Standard	NM_182528		Approved	CTRP10, C1QTNF10	uc002tlo.2	Q7Z5L3	OTTHUMG00000153271	ENST00000272520.3:c.659G>C	2.37:g.119915187C>G	ENSP00000272520:p.Trp220Ser	HNSCC(49;0.14)					p.W220S	NM_182528.3	NP_872334.2	Q7Z5L3	C1QL2_HUMAN			1	1278	-			220			C1q.			Missense_Mutation	SNP	ENST00000272520.3	37	c.659G>C	CCDS42737.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.081779	0.76528	.	.	ENSG00000144119	ENST00000272520	T	0.74209	-0.82	4.87	4.87	0.63330	Tumour necrosis factor-like (2);Complement C1q protein (3);	0.000000	0.64402	D	0.000001	T	0.81692	0.4876	L	0.45744	1.44	0.80722	D	1	D	0.76494	0.999	D	0.75020	0.985	T	0.80256	-0.1458	9	.	.	.	.	16.7477	0.85477	0.0:1.0:0.0:0.0	.	220	Q7Z5L3	C1QL2_HUMAN	S	220	ENSP00000272520:W220S	.	W	-	2	0	C1QL2	119631657	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.762000	0.62250	2.541000	0.85698	0.561000	0.74099	TGG		0.647	C1QL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330527.2	NM_182528		6	37	0	0	0	1	0	6	37					G	119915187	C	G	119915187	3	3	58	1	0	0	0	0	1	0	0	0	1959	595	21	5	212	5	C1QL2	2	119915187	Missense_Mutation	SNP	C	TCGA-EJ-5509-01A-01D-1576-08	20902206	119915187	123284186	7	2989											
ERCC3	2071	broad.mit.edu	37	chr2	128050211	128050211	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	taaactgcataattccatcaGggactccagtcttgctgagc	11	11	8	11	0	2	1	1	1	1	0	4	2	4	2	2	1	4	2	2	1	3	4			TCGA-EJ-5509-01A-01D-1576-08	TCGA-EJ-5509-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fb0dad4-c9d6-4c38-9d1e-ee258dc133cb	a6bcbcc8-3e2b-454f-933d-cf8a793858c6	g.chr2:128050211G>A	ENST00000285398.2	-	3	540	c.446C>T	c.(445-447)cCt>cTt	p.P149L	ERCC3_ENST00000493187.2_Missense_Mutation_p.P85L	NM_000122.1	NP_000113.1	P19447	ERCC3_HUMAN	excision repair cross-complementation group 3	149					7-methylguanosine mRNA capping (GO:0006370)|apoptotic process (GO:0006915)|DNA repair (GO:0006281)|DNA topological change (GO:0006265)|gene expression (GO:0010467)|hair cell differentiation (GO:0035315)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|nucleotide-excision repair, DNA duplex unwinding (GO:0000717)|nucleotide-excision repair, DNA incision (GO:0033683)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of viral transcription (GO:0050434)|protein localization (GO:0008104)|regulation of mitotic cell cycle phase transition (GO:1901990)|response to hypoxia (GO:0001666)|response to oxidative stress (GO:0006979)|response to UV (GO:0009411)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|UV protection (GO:0009650)|viral process (GO:0016032)	holo TFIIH complex (GO:0005675)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	3'-5' DNA helicase activity (GO:0043138)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|ATPase activity (GO:0016887)|damaged DNA binding (GO:0003684)|dATP binding (GO:0032564)|DNA binding (GO:0003677)|GTP binding (GO:0005525)|peptide binding (GO:0042277)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)|transcription factor binding (GO:0008134)	p.P149L(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	31	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.073)		AATTCCATCAGGGACTCCAGT	0.483			"Mis, S"			"skin basal cell, skin squamous cell, melanoma"		Nucleotide excision repair (NER)	Xeroderma Pigmentosum																													ENST00000493187.2			yes	Rec		Xeroderma pigmentosum (B)	2	2q21	2071	"Mis, S"	"excision repair cross-complementing rodent repair deficiency, complementation group 3 (xeroderma pigmentosum group B complementing)"			E		"skin basal cell, skin squamous cell, melanoma"			1	Substitution - Missense(1)	p.P149L(1)	prostate(1)	breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	31						c.(253-255)cCt>cTt	Nucleotide excision repair (NER)	excision repair cross-complementing rodent repair deficiency, complementation group 3							92	86	88					2																	128050211		2203	4300	6503	SO:0001583	missense	2071	Xeroderma Pigmentosum	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV	cell cycle checkpoint|DNA topological change|hair cell differentiation|induction of apoptosis|interspecies interaction between organisms|mRNA capping|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA duplex unwinding|nucleotide-excision repair, DNA incision|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein localization|response to oxidative stress|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	holo TFIIH complex	3'-5' DNA helicase activity|ATP binding|damaged DNA binding|protein C-terminus binding|protein N-terminus binding|transcription factor binding	g.chr2:128050211G>A	M31899	CCDS2144.1	2q21	2014-09-17	2014-03-07		ENSG00000163161	ENSG00000163161		"General transcription factors", "General transcription factor IIH complex subunits"	3435	protein-coding gene	gene with protein product	"xeroderma pigmentosum group B complementing"	133510	"excision repair cross-complementing rodent repair deficiency, complementation group 3"			8202161	Standard	NM_000122		Approved	XPB, BTF2, RAD25, TFIIH, GTF2H	uc002toh.1	P19447	OTTHUMG00000131530	ENST00000285398.2:c.446C>T	2.37:g.128050211G>A	ENSP00000285398:p.Pro149Leu					ERCC3_ENST00000285398.2_Missense_Mutation_p.P149L	p.P85L			P19447	ERCC3_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.073)	3	717	-	Colorectal(110;0.1)		149					Q53QM0	Missense_Mutation	SNP	ENST00000285398.2	37	c.254C>T	CCDS2144.1	.	.	.	.	.	.	.	.	.	.	G	34	5.302733	0.95601	.	.	ENSG00000163161	ENST00000285398;ENST00000493187	D;D	0.91464	-2.85;-2.85	5.31	5.31	0.75309	.	0.000000	0.85682	D	0.000000	D	0.96969	0.9010	H	0.95151	3.63	0.80722	D	1	D	0.62365	0.991	D	0.81914	0.995	D	0.98036	1.0379	10	0.87932	D	0	-17.5955	18.9754	0.92733	0.0:0.0:1.0:0.0	.	149	P19447	ERCC3_HUMAN	L	149;85	ENSP00000285398:P149L;ENSP00000444796:P85L	ENSP00000285398:P149L	P	-	2	0	ERCC3	127766681	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	9.869000	0.99810	2.479000	0.83701	0.655000	0.94253	CCT		0.483	ERCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331028.1	NM_000122		5	117	0	0	0	1	0	5	117					A	128050211	G	A	128050211	3	1	58	1	0	0	0	0	1	0	0	0	5214	1000	35	3	1954	3	ERCC3	2	128050211	Missense_Mutation	SNP	G	TCGA-EJ-5509-01A-01D-1576-08	8135024	128050211	115149162	8	2990											
TTN	7273	broad.mit.edu	37	chr2	179506008	179506008	+	Frame_Shift_Del	DEL	T	T	-																															tctagttttttaggttctacTttaggttcttcttcttcagg																										TCGA-EJ-5509-01A-01D-1576-08	TCGA-EJ-5509-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fb0dad4-c9d6-4c38-9d1e-ee258dc133cb	a6bcbcc8-3e2b-454f-933d-cf8a793858c6	g.chr2:179506008delT	ENST00000591111.1	-	170	35894	c.35670delA	c.(35668-35670)aaafs	p.K11890fs	TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000589042.1_Frame_Shift_Del_p.K13531fs|TTN-AS1_ENST00000418062.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000460472.2_Frame_Shift_Del_p.K4466fs|TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342175.6_Frame_Shift_Del_p.K4658fs|TTN_ENST00000342992.6_Frame_Shift_Del_p.K10963fs|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000359218.5_Frame_Shift_Del_p.K4591fs			Q8WZ42	TITIN_HUMAN	titin	11890	Glu-rich.|Pro-rich.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TAGGTTCTACTTTAGGTTCTT	0.289																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(40591-40593)aafs		titin							101	89	92					2																	179506008		1755	3996	5751	SO:0001589	frameshift_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179506008delT	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.35670delA	2.37:g.179506008delT	ENSP00000465570:p.Lys11890fs					TTN-AS1_ENST00000418062.1_RNA|TTN_ENST00000591111.1_Frame_Shift_Del_p.K11890fs|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342175.6_Frame_Shift_Del_p.K4658fs|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Frame_Shift_Del_p.K4466fs|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000359218.5_Frame_Shift_Del_p.K4591fs|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000342992.6_Frame_Shift_Del_p.K10963fs	p.K13531fs	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		220	40817	-			11890			Ig-like 91.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Frame_Shift_Del	DEL	ENST00000591111.1	37	c.40593delA																																																																																					0.289	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		2	4						2	4	---	---	---	---	-	179506008	T	-	179506008	7	5	58	1	0	1	0	1	0	0	0	0	16732	1606	56	0	67672	0	TTN	2	179506008	Frame_Shift_Del	DEL	T	TCGA-EJ-5509-01A-01D-1576-08	51455797	179506008	63693365	9	2991											
FAM171B	165215	broad.mit.edu	37	chr2	187627272	187627272	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaagcatgcatcagcccaagAtcctttacttagaagattta	15	11	6	9	0	1	3	1	0	0	3	2	3	2	3	2	0	4	2	2	0	6	5			TCGA-EJ-5509-01A-01D-1576-08	TCGA-EJ-5509-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fb0dad4-c9d6-4c38-9d1e-ee258dc133cb	a6bcbcc8-3e2b-454f-933d-cf8a793858c6	g.chr2:187627272A>T	ENST00000304698.5	+	8	2406	c.2203A>T	c.(2203-2205)Atc>Ttc	p.I735F		NM_177454.3	NP_803237.3	Q6P995	F171B_HUMAN	family with sequence similarity 171, member B	735						integral component of membrane (GO:0016021)	DNA binding (GO:0003677)	p.I735F(1)		NS(1)|breast(6)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(22)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						TCAGCCCAAGATCCTTTACTT	0.488																																						ENST00000304698.5																			1	Substitution - Missense(1)	p.I735F(1)	prostate(1)	NS(1)|breast(6)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(22)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						c.(2203-2205)Atc>Ttc		family with sequence similarity 171, member B							87	91	90					2																	187627272		2203	4300	6503	SO:0001583	missense	165215					integral to membrane	DNA binding	g.chr2:187627272A>T	AF361495	CCDS33347.1	2q32.2	2008-06-16	2008-06-16	2008-06-16	ENSG00000144369	ENSG00000144369			29412	protein-coding gene	gene with protein product			"KIAA1946"	KIAA1946		11853319	Standard	NM_177454		Approved	FLJ34104	uc002ups.3	Q6P995	OTTHUMG00000154278	ENST00000304698.5:c.2203A>T	2.37:g.187627272A>T	ENSP00000304108:p.Ile735Phe						p.I735F	NM_177454.3	NP_803237.3	Q6P995	F171B_HUMAN			8	2406	+			735					Q53SK3|Q8N1Y4|Q8N3K1|Q8N970|Q8NB81|Q8TF55|Q8WYR8	Missense_Mutation	SNP	ENST00000304698.5	37	c.2203A>T	CCDS33347.1	.	.	.	.	.	.	.	.	.	.	A	15.94	2.982432	0.53827	.	.	ENSG00000144369	ENST00000304698	T	0.34072	1.38	6.02	6.02	0.97574	.	0.000000	0.85682	D	0.000000	T	0.41766	0.1173	L	0.40543	1.245	0.47621	D	0.999474	D;D	0.60575	0.988;0.988	P;P	0.56343	0.796;0.796	T	0.40683	-0.9550	10	0.72032	D	0.01	-17.4439	7.5775	0.27944	0.787:0.1426:0.0703:0.0	.	735;736	Q6P995;A8K122	F171B_HUMAN;.	F	735	ENSP00000304108:I735F	ENSP00000304108:I735F	I	+	1	0	FAM171B	187335517	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.768000	0.47645	2.299000	0.77371	0.528000	0.53228	ATC		0.488	FAM171B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334679.1	NM_177454		25	63	0	0	0	1	0	25	63					T	187627272	A	T	187627272	3	4	58	1	0	0	0	0	1	0	0	0	5491	333	12	5	2233	5	FAM171B	2	187627272	Missense_Mutation	SNP	A	TCGA-EJ-5509-01A-01D-1576-08	8121264	187627272	55572101	10	2992											
COL3A1	1281	broad.mit.edu	37	chr2	189875581	189875581	+	Nonsense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaaggctgaaggaaatagcAaattcacctacacagttctg	15	9	8	9	0	3	1	2	1	1	0	3	2	3	2	1	2	2	3	1	2	6	4			TCGA-EJ-5509-01A-01D-1576-08	TCGA-EJ-5509-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fb0dad4-c9d6-4c38-9d1e-ee258dc133cb	a6bcbcc8-3e2b-454f-933d-cf8a793858c6	g.chr2:189875581A>T	ENST00000304636.3	+	50	4389	c.4219A>T	c.(4219-4221)Aaa>Taa	p.K1407*	COL3A1_ENST00000317840.5_Nonsense_Mutation_p.K1104*	NM_000090.3	NP_000081	P02461	CO3A1_HUMAN	collagen, type III, alpha 1	1407	Fibrillar collagen NC1. {ECO:0000255|PROSITE-ProRule:PRU00793}.				aging (GO:0007568)|axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell-matrix adhesion (GO:0007160)|cellular response to amino acid stimulus (GO:0071230)|cerebral cortex development (GO:0021987)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|digestive tract development (GO:0048565)|extracellular fibril organization (GO:0043206)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|integrin-mediated signaling pathway (GO:0007229)|negative regulation of immune response (GO:0050777)|negative regulation of neuron migration (GO:2001223)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|positive regulation of Rho protein signal transduction (GO:0035025)|response to cytokine (GO:0034097)|response to mechanical stimulus (GO:0009612)|response to radiation (GO:0009314)|skeletal system development (GO:0001501)|skin development (GO:0043588)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	collagen type III trimer (GO:0005586)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	extracellular matrix structural constituent (GO:0005201)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)	p.K1407*(1)		NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)	AGGAAATAGCAAATTCACCTA	0.398																																						ENST00000304636.3																			1	Substitution - Nonsense(1)	p.K1407*(1)	prostate(1)	NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126						c.(4219-4221)Aaa>Taa		collagen, type III, alpha 1	Collagenase(DB00048)|Palifermin(DB00039)						100	92	95					2																	189875581		2203	4300	6503	SO:0001587	stop_gained	1281				axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding	g.chr2:189875581A>T	X15332	CCDS2297.1	2q32.2	2014-09-17	2008-06-23		ENSG00000168542	ENSG00000168542		"Collagens"	2201	protein-coding gene	gene with protein product		120180	"Ehlers-Danlos syndrome type IV, autosomal dominant"	EDS4A		2780304, 2834369	Standard	NM_000090		Approved		uc002uqj.1	P02461	OTTHUMG00000132648	ENST00000304636.3:c.4219A>T	2.37:g.189875581A>T	ENSP00000304408:p.Lys1407*					COL3A1_ENST00000317840.5_Nonsense_Mutation_p.K1104*	p.K1407*	NM_000090.3	NP_000081.1	P02461	CO3A1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		50	4389	+			1407			Fibrillar collagen NC1.		D2JYH5|D3DPH4|P78429|Q15112|Q16403|Q53S91|Q541P8|Q6LDB3|Q6LDJ2|Q6LDJ3|Q7KZ56|Q8N6U4|Q9UC88|Q9UC89|Q9UC90|Q9UC91|R4N3C5|V9GZI1	Nonsense_Mutation	SNP	ENST00000304636.3	37	c.4219A>T	CCDS2297.1	.	.	.	.	.	.	.	.	.	.	A	42	9.696377	0.99241	.	.	ENSG00000168542	ENST00000304636;ENST00000317840	.	.	.	5.53	5.53	0.82687	.	0.000000	0.53938	D	0.000041	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.14656	T	0.56	.	15.6613	0.77190	1.0:0.0:0.0:0.0	.	.	.	.	X	1407;1104	.	ENSP00000304408:K1407X	K	+	1	0	COL3A1	189583826	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.652000	0.67959	2.100000	0.63781	0.533000	0.62120	AAA		0.398	COL3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255899.3	NM_000090		5	115	0	0	0	1	0	5	115					T	189875581	A	T	189875581	4	4	58	1	0	0	0	0	0	1	0	0	3688	131	5	5	4417	5	COL3A1	2	189875581	Nonsense_Mutation	SNP	A	TCGA-EJ-5509-01A-01D-1576-08	2248309	189875581	53323792	11	2993											
SPAG16	79582	broad.mit.edu	37	chr2	214878685	214878685	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctttatagtgaaagatgcAgatgtactttgtatggacat	12	15	9	5	0	1	3	0	1	1	2	1	4	1	4	0	1	2	3	0	1	5	6			TCGA-EJ-5509-01A-01D-1576-08	TCGA-EJ-5509-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fb0dad4-c9d6-4c38-9d1e-ee258dc133cb	a6bcbcc8-3e2b-454f-933d-cf8a793858c6	g.chr2:214878685A>G	ENST00000331683.5	+	13	1506	c.1411A>G	c.(1411-1413)Aga>Gga	p.R471G	SPAG16_ENST00000374309.3_Missense_Mutation_p.R377G	NM_024532.4	NP_078808.3	Q8N0X2	SPG16_HUMAN	sperm associated antigen 16	471					cilium assembly (GO:0042384)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|microtubule cytoskeleton (GO:0015630)|motile cilium (GO:0031514)|nucleus (GO:0005634)		p.R471G(2)		endometrium(4)|kidney(1)|large_intestine(15)|lung(27)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	56		Renal(323;0.00461)		UCEC - Uterine corpus endometrioid carcinoma (47;0.0525)|Epithelial(149;7.07e-07)|all cancers(144;7.96e-05)|Lung(261;0.00255)|LUSC - Lung squamous cell carcinoma(224;0.00599)		TGAAAGATGCAGATGTACTTT	0.343																																						ENST00000331683.5																			2	Substitution - Missense(2)	p.R471G(2)	prostate(2)	endometrium(4)|kidney(1)|large_intestine(15)|lung(27)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	56						c.(1411-1413)Aga>Gga		sperm associated antigen 16							125	124	124					2																	214878685		2203	4300	6503	SO:0001583	missense	79582				cilium assembly	cilium axoneme|flagellar axoneme		g.chr2:214878685A>G	AF310672	CCDS2396.1, CCDS46508.1	2q34	2013-05-21			ENSG00000144451	ENSG00000144451		"WD repeat domain containing"	23225	protein-coding gene	gene with protein product		612173				12391165, 11867345	Standard	NM_024532		Approved	PF20, FLJ22724, DKFZp666P1710, WDR29	uc002veq.4	Q8N0X2	OTTHUMG00000133015	ENST00000331683.5:c.1411A>G	2.37:g.214878685A>G	ENSP00000332592:p.Arg471Gly					SPAG16_ENST00000374309.3_Missense_Mutation_p.R377G	p.R471G	NM_024532.4	NP_078808.3	Q8N0X2	SPG16_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (47;0.0525)|Epithelial(149;7.07e-07)|all cancers(144;7.96e-05)|Lung(261;0.00255)|LUSC - Lung squamous cell carcinoma(224;0.00599)	13	1506	+		Renal(323;0.00461)	471					Q498B7|Q658W1|Q68DB3|Q6I9Z6|Q8N9C7|Q9H601	Missense_Mutation	SNP	ENST00000331683.5	37	c.1411A>G	CCDS2396.1	.	.	.	.	.	.	.	.	.	.	A	14.13	2.443749	0.43429	.	.	ENSG00000144451	ENST00000331683;ENST00000374309;ENST00000451561	T;T;T	0.59906	0.23;0.23;0.23	5.01	3.85	0.44370	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.64402	D	0.000002	T	0.68952	0.3057	L	0.59436	1.845	0.80722	D	1	D;P;D;P	0.76494	0.998;0.925;0.999;0.939	D;P;D;P	0.77557	0.947;0.691;0.99;0.795	T	0.65063	-0.6259	10	0.28530	T	0.3	.	12.0437	0.53466	0.8461:0.1539:0.0:0.0	.	377;322;411;471	B4DYB5;Q8N0X2-2;Q4G1A2;Q8N0X2	.;.;.;SPG16_HUMAN	G	471;377;95	ENSP00000332592:R471G;ENSP00000363428:R377G;ENSP00000416600:R95G	ENSP00000332592:R471G	R	+	1	2	SPAG16	214586930	1.000000	0.71417	0.955000	0.39395	0.671000	0.39405	2.048000	0.41278	0.831000	0.34780	0.533000	0.62120	AGA		0.343	SPAG16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256601.2	NM_024532		4	245	0	0	0	1	0	4	245					G	214878685	A	G	214878685	3	3	58	1	0	0	0	0	1	0	0	0	14978	180	7	4	1477	4	SPAG16	2	214878685	Missense_Mutation	SNP	A	TCGA-EJ-5509-01A-01D-1576-08	25003104	214878685	28320688	12	2994											
FBXL2	25827	broad.mit.edu	37	chr3	33400492	33400492	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ttggatatagtaactttgtgCcgatgtgcacagatttccaa	11	14	9	7	1	0	1	0	0	0	1	1	3	1	2	2	1	3	2	2	1	4	6			TCGA-EJ-5509-01A-01D-1576-08	TCGA-EJ-5509-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fb0dad4-c9d6-4c38-9d1e-ee258dc133cb	a6bcbcc8-3e2b-454f-933d-cf8a793858c6	g.chr3:33400492C>T	ENST00000484457.1	+	3	190	c.99C>T	c.(97-99)tgC>tgT	p.C33C	FBXL2_ENST00000446237.3_5'UTR|FBXL2_ENST00000283627.6_Intron|FBXL2_ENST00000538892.1_Silent_p.C33C|FBXL2_ENST00000538181.1_Intron|FBXL2_ENST00000507198.1_Silent_p.C33C|FBXL2_ENST00000542085.1_5'UTR	NM_012157.3	NP_036289.3			F-box and leucine-rich repeat protein 2									p.C33C(2)		endometrium(2)|kidney(1)|large_intestine(7)|lung(3)|prostate(1)|urinary_tract(1)	15						TAACTTTGTGCCGATGTGCAC	0.289																																						ENST00000484457.1																			2	Substitution - coding silent(2)	p.C33C(2)	prostate(2)	endometrium(2)|kidney(1)|large_intestine(7)|lung(3)|prostate(1)|urinary_tract(1)	15						c.(97-99)tgC>tgT		F-box and leucine-rich repeat protein 2							46	46	46					3																	33400492		2200	4296	6496	SO:0001819	synonymous_variant	25827				interspecies interaction between organisms|proteolysis	cytoplasm|membrane	protein binding|ubiquitin-protein ligase activity	g.chr3:33400492C>T	AF174589	CCDS2658.1, CCDS54560.1	3p22.3	2011-06-09			ENSG00000153558	ENSG00000153558		"F-boxes / Leucine-rich repeats"	13598	protein-coding gene	gene with protein product		605652				10508920, 10531035	Standard	NM_012157		Approved	FBL2, FBL3	uc003cfp.3	Q9UKC9	OTTHUMG00000130745	ENST00000484457.1:c.99C>T	3.37:g.33400492C>T						FBXL2_ENST00000446237.3_5'UTR|FBXL2_ENST00000538892.1_Silent_p.C33C|FBXL2_ENST00000538181.1_Intron|FBXL2_ENST00000507198.1_Silent_p.C33C|FBXL2_ENST00000542085.1_5'UTR|FBXL2_ENST00000283627.6_Intron	p.C33C	NM_012157.3	NP_036289.3	Q9UKC9	FBXL2_HUMAN			3	190	+			33			F-box.			Silent	SNP	ENST00000484457.1	37	c.99C>T	CCDS2658.1																																																																																				0.289	FBXL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253245.2	NM_012157		3	53	0	0	0	1	0	3	53					T	33400492	C	T	33400492	2	4	58	1	0	0	0	0	0	0	0	1	5716	747	26	3		3	FBXL2	3	33400492	Silent	SNP	C	TCGA-EJ-5509-01A-01D-1576-08		33400492	164621938	13	2995											
GABRG1	2565	broad.mit.edu	37	chr4	46067560	46067560	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctattgaattttaaacgactGtcaaaccaggtttgggcaaa	14	12	8	7	1	1	1	1	1	0	0	1	2	1	1	1	2	2	2	1	2	6	5			TCGA-EJ-5509-01A-01D-1576-08	TCGA-EJ-5509-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fb0dad4-c9d6-4c38-9d1e-ee258dc133cb	a6bcbcc8-3e2b-454f-933d-cf8a793858c6	g.chr4:46067560G>T	ENST00000295452.4	-	4	530	c.363C>A	c.(361-363)gaC>gaA	p.D121E		NM_173536.3	NP_775807.2	Q8N1C3	GBRG1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 1	121					gamma-aminobutyric acid signaling pathway (GO:0007214)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)	p.D121E(1)|p.D121D(1)		breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	76				Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	TTAAACGACTGTCAAACCAGG	0.294																																						ENST00000295452.4																			2	Substitution - Missense(1)|Substitution - coding silent(1)	p.D121E(1)|p.D121D(1)	prostate(1)|lung(1)	breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	76						c.(361-363)gaC>gaA		gamma-aminobutyric acid (GABA) A receptor, gamma 1							45	46	46					4																	46067560		2203	4299	6502	SO:0001583	missense	2565				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity	g.chr4:46067560G>T	BC031087	CCDS3470.1	4p12	2012-06-22			ENSG00000163285	ENSG00000163285		"GABA receptors", "Ligand-gated ion channels / GABA(A) receptors"	4086	protein-coding gene	gene with protein product	"GABA(A) receptor, gamma"	137166				1321425	Standard	NM_173536		Approved		uc003gxb.3	Q8N1C3	OTTHUMG00000128609	ENST00000295452.4:c.363C>A	4.37:g.46067560G>T	ENSP00000295452:p.Asp121Glu						p.D121E	NM_173536.3	NP_775807.2	Q8N1C3	GBRG1_HUMAN		Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23)	4	530	-			121					Q5H9T8	Missense_Mutation	SNP	ENST00000295452.4	37	c.363C>A	CCDS3470.1	.	.	.	.	.	.	.	.	.	.	G	19.74	3.883612	0.72410	.	.	ENSG00000163285	ENST00000295452;ENST00000540030	D	0.93366	-3.21	5.08	-0.518	0.11943	Neurotransmitter-gated ion-channel ligand-binding (3);	0.000000	0.85682	D	0.000000	D	0.96762	0.8943	M	0.93241	3.395	0.49483	D	0.999792	D	0.89917	1.0	D	0.91635	0.999	D	0.95627	0.8686	10	0.87932	D	0	.	10.469	0.44624	0.4008:0.0:0.5992:0.0	.	121	Q8N1C3	GBRG1_HUMAN	E	121	ENSP00000295452:D121E	ENSP00000295452:D121E	D	-	3	2	GABRG1	45762317	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	1.422000	0.34826	-0.039000	0.13602	0.508000	0.49915	GAC		0.294	GABRG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250470.1	NM_173536		14	62	1	0	1.5842e-08	1	1.91424e-08	14	62					T	46067560	G	T	46067560	3	4	58	1	0	0	0	0	1	0	0	0	6171	1368	48	5	1058	5	GABRG1	4	46067560	Missense_Mutation	SNP	G	TCGA-EJ-5509-01A-01D-1576-08		46067560	145086716	14	2996											
ANKRD17	26057	broad.mit.edu	37	chr4	74005375	74005375	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcttggcccagtactggctgTccaactatcactccttgcag	7	11	9	14	0	1	0	1	0	0	0	3	0	3	0	3	2	3	4	3	2	3	4			TCGA-EJ-5509-01A-01D-1576-08	TCGA-EJ-5509-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fb0dad4-c9d6-4c38-9d1e-ee258dc133cb	a6bcbcc8-3e2b-454f-933d-cf8a793858c6	g.chr4:74005375T>G	ENST00000358602.4	-	15	3074	c.2958A>C	c.(2956-2958)ggA>ggC	p.G986G	ANKRD17_ENST00000509867.2_Silent_p.G873G|ANKRD17_ENST00000514252.1_5'UTR|ANKRD17_ENST00000330838.6_Intron	NM_032217.3	NP_115593.3	O75179	ANR17_HUMAN	ankyrin repeat domain 17	986	Gln-rich.				blood vessel maturation (GO:0001955)|negative regulation of smooth muscle cell differentiation (GO:0051151)|viral process (GO:0016032)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.G986G(2)		NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)	96	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			GTACTGGCTGTCCAACTATCA	0.562																																						ENST00000358602.4																			2	Substitution - coding silent(2)	p.G986G(2)	prostate(2)	NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)	96						c.(2956-2958)ggA>ggC		ankyrin repeat domain 17							80	69	73					4																	74005375		2203	4300	6503	SO:0001819	synonymous_variant	26057				interspecies interaction between organisms	cytoplasm|nucleus	RNA binding	g.chr4:74005375T>G	AB014597	CCDS34003.1, CCDS34004.1, CCDS68721.1	4q21.1-q21.21	2013-01-10			ENSG00000132466	ENSG00000132466		"Ankyrin repeat domain containing"	23575	protein-coding gene	gene with protein product		615929				11165478	Standard	NM_032217		Approved	GTAR, KIAA0697, FLJ22206, NY-BR-16	uc003hgp.3	O75179	OTTHUMG00000160826	ENST00000358602.4:c.2958A>C	4.37:g.74005375T>G						ANKRD17_ENST00000509867.2_Silent_p.G873G|ANKRD17_ENST00000330838.6_Intron|ANKRD17_ENST00000514252.1_5'UTR	p.G986G	NM_032217.3	NP_115593.3	O75179	ANR17_HUMAN	Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		15	3074	-	Breast(15;0.000295)		986			Gln-rich.		E7EUV3|G5E964|Q6PJ85|Q6PK85|Q6PKA2|Q86XI3|Q8NDR5|Q96I86|Q9H288|Q9H6J9	Silent	SNP	ENST00000358602.4	37	c.2958A>C	CCDS34004.1																																																																																				0.562	ANKRD17-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000362475.1	NM_032217		5	32	0	0	0	1	0	5	32					G	74005375	T	G	74005375	2	3	58	1	0	0	0	0	0	0	0	1	646	1654	58	5		5	ANKRD17	4	74005375	Silent	SNP	T	TCGA-EJ-5509-01A-01D-1576-08	27937815	74005375	117148901	15	2997											
FHDC1	85462	broad.mit.edu	37	chr4	153881743	153881743	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagttaaaagcgtttagtggCgacgtgtcgaagctgtctct	10	12	12	7	4	1	0	0	0	1	0	3	2	1	0	0	1	2	3	0	1	5	3			TCGA-EJ-5509-01A-01D-1576-08	TCGA-EJ-5509-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fb0dad4-c9d6-4c38-9d1e-ee258dc133cb	a6bcbcc8-3e2b-454f-933d-cf8a793858c6	g.chr4:153881743C>T	ENST00000511601.1	+	5	878	c.690C>T	c.(688-690)ggC>ggT	p.G230G	FHDC1_ENST00000260008.3_Silent_p.G230G			Q9C0D6	FHDC1_HUMAN	FH2 domain containing 1	230	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.							p.G230G(1)	ARFIP1/FHDC1(2)	NS(2)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	43	all_hematologic(180;0.093)					CGTTTAGTGGCGACGTGTCGA	0.373																																						ENST00000511601.1																		ARFIP1/FHDC1(2)	1	Substitution - coding silent(1)	p.G230G(1)	prostate(1)	NS(2)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	43						c.(688-690)ggC>ggT		FH2 domain containing 1							119	114	116					4																	153881743		2203	4300	6503	SO:0001819	synonymous_variant	85462				actin cytoskeleton organization		actin binding	g.chr4:153881743C>T	AB051514	CCDS34081.1	4q31.3	2014-02-12	2007-11-29		ENSG00000137460	ENSG00000137460			29363	protein-coding gene	gene with protein product						15138637	Standard	NM_033393		Approved	KIAA1727	uc003inf.2	Q9C0D6	OTTHUMG00000161452	ENST00000511601.1:c.690C>T	4.37:g.153881743C>T						FHDC1_ENST00000260008.3_Silent_p.G230G	p.G230G			Q9C0D6	FHDC1_HUMAN			5	878	+	all_hematologic(180;0.093)		230			FH2.			Silent	SNP	ENST00000511601.1	37	c.690C>T	CCDS34081.1																																																																																				0.373	FHDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364981.2	NM_033393		19	126	0	0	0	1	0	19	126					T	153881743	C	T	153881743	2	4	58	1	0	0	0	0	0	0	0	1	5876	755	27	1		1	FHDC1	4	153881743	Silent	SNP	C	TCGA-EJ-5509-01A-01D-1576-08	79876368	153881743	37272533	16	2998											
HIST1H2BO	8348	broad.mit.edu	37	chr6	27861558	27861558	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgcctgctgctgcccggggaGctggccaagcacgccgtgtc	4	6	15	16	4	0	0	0	0	0	0	1	1	0	1	4	3	5	4	4	3	1	0			TCGA-EJ-5509-01A-01D-1576-08	TCGA-EJ-5509-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fb0dad4-c9d6-4c38-9d1e-ee258dc133cb	a6bcbcc8-3e2b-454f-933d-cf8a793858c6	g.chr6:27861558G>A	ENST00000303806.4	+	1	356	c.318G>A	c.(316-318)gaG>gaA	p.E106E	HIST1H3J_ENST00000359303.2_5'Flank|HIST1H3J_ENST00000479986.1_5'Flank|HIST1H2AM_ENST00000359611.2_5'Flank	NM_003527.4	NP_003518.2	P23527	H2B1O_HUMAN	histone cluster 1, H2bo	106					chromatin organization (GO:0006325)|nucleosome assembly (GO:0006334)	nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.E106E(1)									TGCCCGGGGAGCTGGCCAAGC	0.637																																						ENST00000303806.4																			1	Substitution - coding silent(1)	p.E106E(1)	prostate(1)								c.(316-318)gaG>gaA		histone cluster 1, H2bo							47	51	49					6																	27861558		2203	4299	6502	SO:0001819	synonymous_variant	8348				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr6:27861558G>A	X57138	CCDS4640.1	6p22.1	2011-01-27	2006-10-11	2003-02-21	ENSG00000196331			"Histones / Replication-dependent"	4758	protein-coding gene	gene with protein product		602808	"H2B histone family, member N", "histone 1, H2bo"	H2BFN		1768865, 12408966	Standard	NM_003527		Approved	H2B/n, H2B.2	uc003nkc.1	P23527	OTTHUMG00000014493	ENST00000303806.4:c.318G>A	6.37:g.27861558G>A							p.E106E	NM_003527.4	NP_003518.2	P23527	H2B1O_HUMAN			1	356	+			106					Q3KPI7|Q8TCV6	Silent	SNP	ENST00000303806.4	37	c.318G>A	CCDS4640.1																																																																																				0.637	HIST1H2BO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040161.1	NM_003527		5	64	0	0	0	1	0	5	64					A	27861558	G	A	27861558	2	1	58	1	0	0	0	0	0	0	0	1	7154	962	34	3		3	HIST1H2BO	6	27861558	Silent	SNP	G	TCGA-EJ-5509-01A-01D-1576-08		27861558	143253509	17	2999											
MUC17	140453	broad.mit.edu	37	chr7	100693835	100693835	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	caccagaatacaagacagtaTtggacaatgccaccgaagta	17	6	8	10	1	0	2	0	0	0	2	0	4	0	3	3	1	2	2	3	1	7	4			TCGA-EJ-5509-01A-01D-1576-08	TCGA-EJ-5509-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fb0dad4-c9d6-4c38-9d1e-ee258dc133cb	a6bcbcc8-3e2b-454f-933d-cf8a793858c6	g.chr7:100693835T>C	ENST00000306151.4	+	7	12857	c.12793T>C	c.(12793-12795)Ttg>Ctg	p.L4265L		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	4265	SEA. {ECO:0000255|PROSITE- ProRule:PRU00188}.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)	p.L4265L(1)		NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CAAGACAGTATTGGACAATGC	0.463																																						ENST00000306151.4																			1	Substitution - coding silent(1)	p.L4265L(1)	prostate(1)	NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343						c.(12793-12795)Ttg>Ctg		mucin 17, cell surface associated							165	143	151					7																	100693835		2203	4300	6503	SO:0001819	synonymous_variant	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100693835T>C	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"Mucins"	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.12793T>C	7.37:g.100693835T>C							p.L4265L	NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN			7	12857	+	Lung NSC(181;0.136)|all_lung(186;0.182)		4265			SEA.		O14761|Q685J2|Q8TDH7	Silent	SNP	ENST00000306151.4	37	c.12793T>C	CCDS34711.1																																																																																				0.463	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		8	90	0	0	0	1	0	8	90					C	100693835	T	C	100693835	2	2	58	1	0	0	0	0	0	0	0	1	9974	1490	52	4		4	MUC17	7	100693835	Silent	SNP	T	TCGA-EJ-5509-01A-01D-1576-08		100693835	58444828	18	3000											
LAMB1	3912	broad.mit.edu	37	chr7	107575964	107575964	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cttgaactgggattctcgctCcatcatcacgtcttctactc	7	14	6	14	2	5	1	2	1	3	0	8	2	6	2	1	1	2	1	1	1	2	4			TCGA-EJ-5509-01A-01D-1576-08	TCGA-EJ-5509-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fb0dad4-c9d6-4c38-9d1e-ee258dc133cb	a6bcbcc8-3e2b-454f-933d-cf8a793858c6	g.chr7:107575964C>T	ENST00000222399.6	-	27	4314	c.4084G>A	c.(4084-4086)Gag>Aag	p.E1362K	LAMB1_ENST00000474380.1_5'UTR|LAMB1_ENST00000393561.1_Missense_Mutation_p.E1386K	NM_002291.2	NP_002282.2	P07942	LAMB1_HUMAN	laminin, beta 1	1362	Domain II.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|embryo implantation (GO:0007566)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of cell adhesion (GO:0007162)|neuron projection development (GO:0031175)|neuronal-glial interaction involved in cerebral cortex radial glia guided migration (GO:0021812)|odontogenesis (GO:0042476)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell proliferation (GO:0050679)|substrate adhesion-dependent cell spreading (GO:0034446)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-2 complex (GO:0005607)|laminin-8 complex (GO:0043257)|perinuclear region of cytoplasm (GO:0048471)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)|structural molecule activity (GO:0005198)	p.E1362K(1)		NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)	82						GATTCTCGCTCCATCATCACG	0.542																																						ENST00000393561.1																			1	Substitution - Missense(1)	p.E1362K(1)	prostate(1)	NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)	82						c.(4156-4158)Gag>Aag		laminin, beta 1	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						332	286	301					7																	107575964		2203	4300	6503	SO:0001583	missense	3912				axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm	extracellular matrix structural constituent	g.chr7:107575964C>T	M61916	CCDS5750.1	7q22	2013-03-01			ENSG00000091136	ENSG00000091136		"Laminins"	6486	protein-coding gene	gene with protein product		150240	"cutis laxa with marfanoid phenotype"	CLM		2563160, 2704655, 1864606	Standard	NM_002291		Approved		uc003vew.2	P07942	OTTHUMG00000149966	ENST00000222399.6:c.4084G>A	7.37:g.107575964C>T	ENSP00000222399:p.Glu1362Lys					LAMB1_ENST00000222399.6_Missense_Mutation_p.E1362K|LAMB1_ENST00000474380.1_5'UTR	p.E1386K			P07942	LAMB1_HUMAN			25	4340	-			1362			Domain II.		Q14D91	Missense_Mutation	SNP	ENST00000222399.6	37	c.4156G>A	CCDS5750.1	.	.	.	.	.	.	.	.	.	.	C	12.38	1.919334	0.33908	.	.	ENSG00000091136	ENST00000393561;ENST00000222399	T;T	0.32272	1.47;1.46	5.42	4.52	0.55395	.	.	.	.	.	T	0.29524	0.0736	L	0.54323	1.7	0.80722	D	1	B;B	0.23650	0.009;0.089	B;B	0.29862	0.027;0.108	T	0.08806	-1.0704	9	0.06494	T	0.89	.	15.5551	0.76187	0.1389:0.8611:0.0:0.0	.	1362;1386	P07942;G3XAI2	LAMB1_HUMAN;.	K	1386;1362	ENSP00000377191:E1386K;ENSP00000222399:E1362K	ENSP00000222399:E1362K	E	-	1	0	LAMB1	107363200	1.000000	0.71417	0.887000	0.34795	0.665000	0.39181	5.190000	0.65104	1.479000	0.48272	0.650000	0.86243	GAG		0.542	LAMB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314584.1	NM_002291		145	302	0	0	0	1	0	145	302					T	107575964	C	T	107575964	3	4	58	1	0	0	0	0	1	0	0	0	8610	864	30	3	1308	3	LAMB1	7	107575964	Missense_Mutation	SNP	C	TCGA-EJ-5509-01A-01D-1576-08	6882129	107575964	51562699	19	3001											
PLXNA4	91584	broad.mit.edu	37	chr7	132193088	132193088	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	caatcagcctgttctccttgTagtctatgaggagcatcttg	8	14	9	10	0	4	1	1	1	3	0	5	2	4	2	2	1	2	3	2	1	3	5			TCGA-EJ-5509-01A-01D-1576-08	TCGA-EJ-5509-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fb0dad4-c9d6-4c38-9d1e-ee258dc133cb	a6bcbcc8-3e2b-454f-933d-cf8a793858c6	g.chr7:132193088T>C	ENST00000359827.3	-	2	1327	c.365A>G	c.(364-366)tAc>tGc	p.Y122C	PLXNA4_ENST00000321063.4_Missense_Mutation_p.Y122C|PLXNA4_ENST00000423507.2_Missense_Mutation_p.Y122C|PLXNA4_ENST00000378539.5_Missense_Mutation_p.Y122C			Q9HCM2	PLXA4_HUMAN	plexin A4	122	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				anterior commissure morphogenesis (GO:0021960)|axon guidance (GO:0007411)|chemorepulsion of branchiomotor axon (GO:0021793)|facial nerve structural organization (GO:0021612)|glossopharyngeal nerve morphogenesis (GO:0021615)|postganglionic parasympathetic nervous system development (GO:0021784)|regulation of axon extension involved in axon guidance (GO:0048841)|regulation of negative chemotaxis (GO:0050923)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|sympathetic nervous system development (GO:0048485)|trigeminal nerve structural organization (GO:0021637)|vagus nerve morphogenesis (GO:0021644)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)	p.Y122C(3)		NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						GTTCTCCTTGTAGTCTATGAG	0.552																																						ENST00000359827.3																			3	Substitution - Missense(3)	p.Y122C(3)	prostate(3)	NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						c.(364-366)tAc>tGc		plexin A4							57	54	55					7																	132193088		2203	4300	6503	SO:0001583	missense	91584					integral to membrane|intracellular|plasma membrane		g.chr7:132193088T>C	AB046770, AK123428	CCDS5826.1, CCDS43646.1, CCDS43647.1	7q32.3	2007-09-26	2007-09-26	2007-09-26	ENSG00000221866	ENSG00000221866		"Plexins"	9102	protein-coding gene	gene with protein product		604280	"plexin A4, A", "plexin A4, B"	PLXNA4A, PLXNA4B			Standard	NM_181775		Approved	KIAA1550, DKFZp434G0625PRO34003, FAYV2820	uc003vra.4	Q9HCM2	OTTHUMG00000155108	ENST00000359827.3:c.365A>G	7.37:g.132193088T>C	ENSP00000352882:p.Tyr122Cys					PLXNA4_ENST00000378539.5_Missense_Mutation_p.Y122C|PLXNA4_ENST00000423507.2_Missense_Mutation_p.Y122C|PLXNA4_ENST00000321063.4_Missense_Mutation_p.Y122C	p.Y122C			Q9HCM2	PLXA4_HUMAN			2	1327	-			122			Sema.		A4D1N6|E9PAM2|Q6UWC6|Q6ZW89|Q8N969|Q8ND00|Q8NEN3|Q9NTD4	Missense_Mutation	SNP	ENST00000359827.3	37	c.365A>G	CCDS43646.1	.	.	.	.	.	.	.	.	.	.	T	18.67	3.674677	0.67928	.	.	ENSG00000221866	ENST00000321063;ENST00000359827;ENST00000423507;ENST00000378539	T;T;T;T	0.04706	3.57;3.57;3.57;3.57	5.39	5.39	0.77823	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.000000	0.40469	U	0.001099	T	0.26340	0.0643	M	0.88450	2.955	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.83275	0.996;0.994;0.992	T	0.04885	-1.0920	10	0.40728	T	0.16	.	15.4065	0.74884	0.0:0.0:0.0:1.0	.	122;122;122	Q9HCM2-2;A4D1N6;Q9HCM2	.;.;PLXA4_HUMAN	C	122	ENSP00000323194:Y122C;ENSP00000352882:Y122C;ENSP00000392772:Y122C;ENSP00000367800:Y122C	ENSP00000323194:Y122C	Y	-	2	0	PLXNA4	131843628	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.040000	0.89188	2.051000	0.60960	0.379000	0.24179	TAC		0.552	PLXNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338422.2	NM_181775		4	95	0	0	0	1	0	4	95					C	132193088	T	C	132193088	3	2	58	1	0	0	0	0	1	0	0	0	12122	1638	57	4	5757	4	PLXNA4	7	132193088	Missense_Mutation	SNP	T	TCGA-EJ-5509-01A-01D-1576-08	24617124	132193088	26945575	20	3002											
TNKS	8658	broad.mit.edu	37	chr8	9564325	9564325	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ttttttctcaattcagcatgGagcttgtgttaatgccatgg	8	17	9	7	0	2	0	2	0	1	0	3	1	2	1	1	2	3	3	1	2	2	6			TCGA-EJ-5509-01A-01D-1576-08	TCGA-EJ-5509-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fb0dad4-c9d6-4c38-9d1e-ee258dc133cb	a6bcbcc8-3e2b-454f-933d-cf8a793858c6	g.chr8:9564325G>T	ENST00000310430.6	+	8	1300	c.1274G>T	c.(1273-1275)gGa>gTa	p.G425V	TNKS_ENST00000520408.1_Missense_Mutation_p.G425V|TNKS_ENST00000518281.1_Missense_Mutation_p.G188V|TNKS_ENST00000518027.1_3'UTR	NM_003747.2	NP_003738.2	O95271	TNKS1_HUMAN	tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase	425					mitotic nuclear division (GO:0007067)|mitotic spindle organization (GO:0007052)|mRNA transport (GO:0051028)|negative regulation of DNA binding (GO:0043392)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of telomere maintenance via telomerase (GO:0032212)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein ADP-ribosylation (GO:0006471)|protein auto-ADP-ribosylation (GO:0070213)|protein localization to chromosome, telomeric region (GO:0070198)|protein poly-ADP-ribosylation (GO:0070212)|protein polyubiquitination (GO:0000209)|protein transport (GO:0015031)|regulation of telomere maintenance via telomerase (GO:0032210)|spindle assembly (GO:0051225)|Wnt signaling pathway (GO:0016055)	chromosome, centromeric region (GO:0000775)|chromosome, telomeric region (GO:0000781)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nuclear chromosome, telomeric region (GO:0000784)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleus (GO:0005634)|pericentriolar material (GO:0000242)	NAD+ ADP-ribosyltransferase activity (GO:0003950)|zinc ion binding (GO:0008270)	p.G425V(3)		NS(1)|endometrium(10)|kidney(6)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	49				COAD - Colon adenocarcinoma(149;0.0467)		ATTCAGCATGGAGCTTGTGTT	0.373																																						ENST00000310430.6																			3	Substitution - Missense(3)	p.G425V(3)	prostate(3)	NS(1)|endometrium(10)|kidney(6)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	49						c.(1273-1275)gGa>gTa		tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase							92	81	85					8																	9564325		2203	4300	6503	SO:0001583	missense	8658				mitotic spindle organization|mRNA transport|negative regulation of DNA binding|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of telomere maintenance via telomerase|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein poly-ADP-ribosylation|protein polyubiquitination|protein transport|spindle assembly|transmembrane transport|Wnt receptor signaling pathway	chromosome, centromeric region|Golgi membrane|microsome|nuclear chromosome, telomeric region|nuclear membrane|nuclear pore|pericentriolar material	NAD+ ADP-ribosyltransferase activity|protein binding|zinc ion binding	g.chr8:9564325G>T	AF082556	CCDS5974.1	8p23.1	2013-01-10			ENSG00000173273	ENSG00000173273		"Poly (ADP-ribose) polymerases", "Sterile alpha motif (SAM) domain containing", "Ankyrin repeat domain containing"	11941	protein-coding gene	gene with protein product		603303				9822378, 10198177	Standard	XM_006716263		Approved	TIN1, TINF1, TNKS1, PARP-5a, PARP5A, pART5	uc003wss.3	O95271	OTTHUMG00000090481	ENST00000310430.6:c.1274G>T	8.37:g.9564325G>T	ENSP00000311579:p.Gly425Val					TNKS_ENST00000518027.1_3'UTR|TNKS_ENST00000520408.1_Missense_Mutation_p.G425V|TNKS_ENST00000518281.1_Missense_Mutation_p.G188V	p.G425V	NM_003747.2	NP_003738.2	O95271	TNKS1_HUMAN		COAD - Colon adenocarcinoma(149;0.0467)	8	1300	+			425					O95272|Q4G0F2	Missense_Mutation	SNP	ENST00000310430.6	37	c.1274G>T	CCDS5974.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.309273	0.81247	.	.	ENSG00000173273	ENST00000520408;ENST00000310430;ENST00000518281	T;T;T	0.73258	-0.73;-0.73;1.14	5.67	5.67	0.87782	Ankyrin repeat-containing domain (3);	0.000000	0.85682	D	0.000000	D	0.89361	0.6693	H	0.94423	3.535	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.998	D	0.91400	0.5142	10	0.87932	D	0	.	20.1421	0.98061	0.0:0.0:1.0:0.0	.	425;425	E7EWY6;O95271	.;TNKS1_HUMAN	V	425;425;188	ENSP00000428299:G425V;ENSP00000311579:G425V;ENSP00000429890:G188V	ENSP00000311579:G425V	G	+	2	0	TNKS	9601735	1.000000	0.71417	1.000000	0.80357	0.630000	0.37929	9.792000	0.99085	2.836000	0.97738	0.655000	0.94253	GGA		0.373	TNKS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206935.1	NM_003747		4	146	1	0	0.00909568	1	0.00995376	4	146					T	9564325	G	T	9564325	3	4	58	1	0	0	0	0	1	0	0	0	16316	1174	41	5	1304	5	TNKS	8	9564325	Missense_Mutation	SNP	G	TCGA-EJ-5509-01A-01D-1576-08		9564325	136799697	21	3003											
PROSC	11212	broad.mit.edu	37	chr8	37623076	37623076	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atccagccccggctagtggcGgtcagcaaaaccaaacctgc	11	5	10	15	2	1	0	1	0	0	0	2	0	2	0	5	3	5	2	5	3	4	1	rs202002761		TCGA-EJ-5509-01A-01D-1576-08	TCGA-EJ-5509-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fb0dad4-c9d6-4c38-9d1e-ee258dc133cb	a6bcbcc8-3e2b-454f-933d-cf8a793858c6	g.chr8:37623076G>A	ENST00000328195.3	+	2	199	c.132G>A	c.(130-132)gcG>gcA	p.A44A		NM_007198.3	NP_009129.1	O94903	PROSC_HUMAN	proline synthetase co-transcribed homolog (bacterial)	44					alpha-amino acid metabolic process (GO:1901605)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|mitochondrion (GO:0005739)	pyridoxal phosphate binding (GO:0030170)	p.A44A(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|prostate(1)	7		Lung NSC(58;0.174)	BRCA - Breast invasive adenocarcinoma(5;6.14e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)		L-Proline(DB00172)	GGCTAGTGGCGGTCAGCAAAA	0.532													G|||	1	0.000199681	0	0	5008	,	,		19070	0		0	False		,,,				2504	0.001					ENST00000328195.3																			1	Substitution - coding silent(1)	p.A44A(1)	prostate(1)	central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|prostate(1)	7						c.(130-132)gcG>gcA		proline synthetase co-transcribed homolog (bacterial)	L-Proline(DB00172)|Pyridoxal Phosphate(DB00114)						178	185	183					8																	37623076		2203	4300	6503	SO:0001819	synonymous_variant	11212						pyridoxal phosphate binding	g.chr8:37623076G>A	AB018566	CCDS6096.1	8p11.2	2008-01-07	2001-12-04		ENSG00000147471	ENSG00000147471			9457	protein-coding gene	gene with protein product		604436	"proline synthetase co-transcribed (bacterial homolog)"				Standard	NM_007198		Approved		uc003xkh.3	O94903	OTTHUMG00000164024	ENST00000328195.3:c.132G>A	8.37:g.37623076G>A							p.A44A	NM_007198.3	NP_009129.1	O94903	PROSC_HUMAN	BRCA - Breast invasive adenocarcinoma(5;6.14e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)		2	199	+		Lung NSC(58;0.174)	44					Q6FI94	Silent	SNP	ENST00000328195.3	37	c.132G>A	CCDS6096.1	.	.	.	.	.	.	.	.	.	.	G	9.310	1.055423	0.19907	.	.	ENSG00000147471	ENST00000521494	.	.	.	5.61	-11.2	0.00127	.	.	.	.	.	T	0.40322	0.1112	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.51888	-0.8648	4	.	.	.	-13.8262	4.3518	0.11158	0.192:0.364:0.3104:0.1336	.	.	.	.	Q	13	.	.	R	+	2	0	PROSC	37742234	0.000000	0.05858	0.085000	0.20634	0.944000	0.59088	-2.610000	0.00885	-3.556000	0.00142	-1.796000	0.00623	CGG		0.532	PROSC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376796.1	NM_007198		14	268	0	0	0	1	0	14	268					A	37623076	G	A	37623076	2	1	58	1	0	0	0	0	0	0	0	1	12559	1103	39	2		2	PROSC	8	37623076	Silent	SNP	G	TCGA-EJ-5509-01A-01D-1576-08	28058751	37623076	108740946	22	3004											
GOT1L1	137362	broad.mit.edu	37	chr8	37794557	37794557	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatgttccccatcacaaggaCacagccatgtgggatctgct	11	9	9	12	0	2	0	1	0	1	0	3	2	3	2	3	2	2	2	3	2	2	1			TCGA-EJ-5509-01A-01D-1576-08	TCGA-EJ-5509-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fb0dad4-c9d6-4c38-9d1e-ee258dc133cb	a6bcbcc8-3e2b-454f-933d-cf8a793858c6	g.chr8:37794557C>T	ENST00000307599.4	-	5	637	c.538G>A	c.(538-540)Gtc>Atc	p.V180I	GOT1L1_ENST00000518826.1_5'Flank	NM_152413.2	NP_689626.2	Q8NHS2	AATC2_HUMAN	glutamic-oxaloacetic transaminase 1-like 1	180					biosynthetic process (GO:0009058)|cellular amino acid metabolic process (GO:0006520)	cytoplasm (GO:0005737)	pyridoxal phosphate binding (GO:0030170)|transaminase activity (GO:0008483)	p.V180I(3)		central_nervous_system(1)|endometrium(3)|lung(8)|ovary(1)|prostate(1)	14	Colorectal(12;0.00627)	Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;1.37e-11)			ATCACAAGGACACAGCCATGT	0.557																																						ENST00000307599.4																			3	Substitution - Missense(3)	p.V180I(3)	prostate(2)|large_intestine(1)	central_nervous_system(1)|endometrium(3)|lung(8)|ovary(1)|prostate(1)	14						c.(538-540)Gtc>Atc		glutamic-oxaloacetic transaminase 1-like 1							115	122	120					8																	37794557		2049	4190	6239	SO:0001583	missense	137362				biosynthetic process|cellular amino acid metabolic process	cytoplasm	pyridoxal phosphate binding|transaminase activity	g.chr8:37794557C>T	BC029504	CCDS47839.1	8p12	2005-09-22			ENSG00000169154	ENSG00000169154			28487	protein-coding gene	gene with protein product						12477932	Standard	NM_152413		Approved	MGC33309	uc011lbj.1	Q8NHS2	OTTHUMG00000164027	ENST00000307599.4:c.538G>A	8.37:g.37794557C>T	ENSP00000303077:p.Val180Ile						p.V180I	NM_152413.2	NP_689626.2	Q8NHS2	AATC2_HUMAN	LUSC - Lung squamous cell carcinoma(8;1.37e-11)		5	637	-	Colorectal(12;0.00627)	Lung NSC(58;0.118)|all_lung(54;0.195)	180					A8MWL4	Missense_Mutation	SNP	ENST00000307599.4	37	c.538G>A	CCDS47839.1	.	.	.	.	.	.	.	.	.	.	C	4.284	0.051921	0.08291	.	.	ENSG00000169154	ENST00000307599	D	0.90620	-2.7	4.75	-8.21	0.01041	Aminotransferase, class I/classII (1);Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.547984	0.16256	N	0.222495	T	0.75845	0.3905	N	0.16656	0.425	0.39023	D	0.959784	B	0.16396	0.017	B	0.19946	0.027	T	0.58640	-0.7601	10	0.05525	T	0.97	-3.7742	13.8319	0.63386	0.0:0.1881:0.0:0.8119	.	180	Q8NHS2	AATC2_HUMAN	I	180	ENSP00000303077:V180I	ENSP00000303077:V180I	V	-	1	0	GOT1L1	37913714	0.000000	0.05858	0.005000	0.12908	0.124000	0.20399	-1.584000	0.02114	-1.815000	0.01222	-0.263000	0.10527	GTC		0.557	GOT1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376823.1	NM_152413		6	80	0	0	0	1	0	6	80					T	37794557	C	T	37794557	3	4	58	1	0	0	0	0	1	0	0	0	6580	478	17	3	592	3	GOT1L1	8	37794557	Missense_Mutation	SNP	C	TCGA-EJ-5509-01A-01D-1576-08	171481	37794557	108569465	23	3005											
UBQLN1	29979	broad.mit.edu	37	chr9	86293369	86293369	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggatcacctgctcttgtgcaGcactcagcattggttcctga	7	12	10	12	0	3	1	2	1	1	0	4	2	4	2	2	2	4	5	2	2	0	3			TCGA-EJ-5509-01A-01D-1576-08	TCGA-EJ-5509-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fb0dad4-c9d6-4c38-9d1e-ee258dc133cb	a6bcbcc8-3e2b-454f-933d-cf8a793858c6	g.chr9:86293369G>A	ENST00000376395.4	-	5	1380	c.857C>T	c.(856-858)gCt>gTt	p.A286V	UBQLN1_ENST00000257468.7_Missense_Mutation_p.A286V	NM_013438.4|NM_053067.2	NP_038466.2|NP_444295.1	Q9UMX0	UBQL1_HUMAN	ubiquilin 1	286					cellular response to hypoxia (GO:0071456)|regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902175)|regulation of protein ubiquitination (GO:0031396)|response to endoplasmic reticulum stress (GO:0034976)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|proteasome complex (GO:0000502)|protein complex (GO:0043234)	kinase binding (GO:0019900)	p.A286V(1)		breast(4)|endometrium(2)|kidney(4)|large_intestine(6)|lung(10)|prostate(1)	27						CTCTTGTGCAGCACTCAGCAT	0.458																																					Melanoma(186;1284 2073 12755 14558 18426)	ENST00000376395.4																			1	Substitution - Missense(1)	p.A286V(1)	prostate(1)	breast(4)|endometrium(2)|kidney(4)|large_intestine(6)|lung(10)|prostate(1)	27						c.(856-858)gCt>gTt		ubiquilin 1							210	197	201					9																	86293369		2203	4300	6503	SO:0001583	missense	29979				apoptosis|regulation of protein ubiquitination|response to hypoxia	endoplasmic reticulum|nucleus|perinuclear region of cytoplasm|proteasome complex	kinase binding	g.chr9:86293369G>A	AF176069	CCDS6663.1, CCDS6664.1	9q22	2013-02-12			ENSG00000135018	ENSG00000135018		"Ubiquilin family"	12508	protein-coding gene	gene with protein product		605046				9303440, 10807547	Standard	NM_013438		Approved	DSK2, PLIC-1, XDRP1, DA41	uc004amv.3	Q9UMX0	OTTHUMG00000020104	ENST00000376395.4:c.857C>T	9.37:g.86293369G>A	ENSP00000365576:p.Ala286Val					UBQLN1_ENST00000257468.7_Missense_Mutation_p.A286V	p.A286V	NM_013438.4|NM_053067.2	NP_038466.2|NP_444295.1	Q9UMX0	UBQL1_HUMAN			5	1380	-			286					Q5T6J5|Q5T6J9|Q8IXS9|Q8N2Q3|Q9H0T8|Q9H3R4|Q9HAZ5	Missense_Mutation	SNP	ENST00000376395.4	37	c.857C>T	CCDS6663.1	.	.	.	.	.	.	.	.	.	.	G	34	5.353854	0.95830	.	.	ENSG00000135018	ENST00000376395;ENST00000257468;ENST00000529923	T;T;T	0.80480	-1.38;-1.38;-1.38	5.68	5.68	0.88126	.	0.000000	0.85682	D	0.000000	D	0.92028	0.7474	M	0.89534	3.04	0.80722	D	1	D;D	0.89917	1.0;0.998	D;D	0.83275	0.996;0.993	D	0.92603	0.6093	10	0.59425	D	0.04	.	19.7958	0.96481	0.0:0.0:1.0:0.0	.	286;286	Q9UMX0-2;Q9UMX0	.;UBQL1_HUMAN	V	286;286;83	ENSP00000365576:A286V;ENSP00000257468:A286V;ENSP00000434194:A83V	ENSP00000257468:A286V	A	-	2	0	UBQLN1	85483189	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	9.242000	0.95408	2.669000	0.90835	0.563000	0.77884	GCT		0.458	UBQLN1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000052834.1	NM_013438		5	385	0	0	0	1	0	5	385					A	86293369	G	A	86293369	3	1	58	1	0	0	0	0	1	0	0	0	16893	971	34	3	940	3	UBQLN1	9	86293369	Missense_Mutation	SNP	G	TCGA-EJ-5509-01A-01D-1576-08		86293369	54920062	24	3006											
C10orf58	84293	broad.mit.edu	37	chr10	82185669	82185669	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcatgttggaccagctgggCgtccccctctatgcagtggt	6	10	13	12	1	1	0	0	0	1	0	2	1	2	1	3	3	3	4	3	3	1	2			TCGA-EJ-5509-01A-01D-1576-08	TCGA-EJ-5509-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fb0dad4-c9d6-4c38-9d1e-ee258dc133cb	a6bcbcc8-3e2b-454f-933d-cf8a793858c6	g.chr10:82185669C>T	ENST00000372181.1	+	3	788	c.318C>T	c.(316-318)ggC>ggT	p.G106G	FAM213A_ENST00000372188.1_Silent_p.G106G|FAM213A_ENST00000372187.5_Silent_p.G106G|FAM213A_ENST00000372185.1_Silent_p.G95G	NM_001243778.1|NM_001243782.1	NP_001230707.1|NP_001230711.1	Q9BRX8	F213A_HUMAN	family with sequence similarity 213, member A	106	Thioredoxin fold. {ECO:0000250}.				oxidation-reduction process (GO:0055114)|regulation of osteoclast differentiation (GO:0045670)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	antioxidant activity (GO:0016209)	p.G106G(1)									ACCAGCTGGGCGTCCCCCTCT	0.522																																						ENST00000372181.1																			1	Substitution - coding silent(1)	p.G106G(1)	prostate(1)								c.(316-318)ggC>ggT		family with sequence similarity 213, member A							122	112	115					10																	82185669		2203	4300	6503	SO:0001819	synonymous_variant	84293					extracellular region		g.chr10:82185669C>T	AF086462	CCDS7368.1, CCDS58089.1	10q23.1	2011-12-08	2011-12-08	2011-12-08	ENSG00000122378	ENSG00000122378			28651	protein-coding gene	gene with protein product	"peroxiredoxin-like 2 activated in M-CSF stimulated monocytes"		"chromosome 10 open reading frame 58"	C10orf58		11483580, 19951071	Standard	NM_032333		Approved	MGC4248, PAMM	uc001kce.4	Q9BRX8	OTTHUMG00000018614	ENST00000372181.1:c.318C>T	10.37:g.82185669C>T						FAM213A_ENST00000372185.1_Silent_p.G95G|FAM213A_ENST00000372187.5_Silent_p.G106G|FAM213A_ENST00000372188.1_Silent_p.G106G	p.G106G	NM_001243778.1|NM_001243782.1	NP_001230707.1|NP_001230711.1	Q9BRX8	CJ058_HUMAN			3	788	+			106					B2RD81|Q6UW08|Q8N2K3|Q8NBK9|Q96JR0	Silent	SNP	ENST00000372181.1	37	c.318C>T	CCDS7368.1																																																																																				0.522	FAM213A-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049077.2			36	87	0	0	0	1	0	36	87					T	82185669	C	T	82185669	2	4	58	1	0	0	0	0	0	0	0	1	1610	755	27	1		1	C10orf58	10	82185669	Silent	SNP	C	TCGA-EJ-5509-01A-01D-1576-08		82185669	53349078	25	3007											
DCDC1	341019	broad.mit.edu	37	chr11	31312310	31312310	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tttcttcattctaatagaaaGaacaggcttggttttccgtc	10	16	7	8	1	3	2	1	0	2	2	5	2	4	2	1	2	1	2	1	2	4	8	rs377121072		TCGA-EJ-5509-01A-01D-1576-08	TCGA-EJ-5509-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fb0dad4-c9d6-4c38-9d1e-ee258dc133cb	a6bcbcc8-3e2b-454f-933d-cf8a793858c6	g.chr11:31312310G>C	ENST00000452803.1	-	7	1045	c.844C>G	c.(844-846)Ctt>Gtt	p.L282V	DCDC1_ENST00000597505.1_Missense_Mutation_p.L282V	NM_181807.3	NP_861523.2	P59894	DCDC1_HUMAN	doublecortin domain containing 1	282					intracellular signal transduction (GO:0035556)			p.L282V(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1)	31	Lung SC(675;0.225)					CTAATAGAAAGAACAGGCTTG	0.393																																						ENST00000597505.1																			1	Substitution - Missense(1)	p.L282V(1)	prostate(1)	central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1)	31						c.(844-846)Ctt>Gtt		doublecortin domain containing 1							90	90	90					11																	31312310		2202	4299	6501	SO:0001583	missense	341019				intracellular signal transduction			g.chr11:31312310G>C	AY247970	CCDS7872.1	11p14.1	2013-05-22			ENSG00000170959	ENSG00000170959			20625	protein-coding gene	gene with protein product		608062				12820024	Standard	NM_181807		Approved		uc001msv.3	P59894	OTTHUMG00000150144	ENST00000452803.1:c.844C>G	11.37:g.31312310G>C	ENSP00000389792:p.Leu282Val					DCDC1_ENST00000452803.1_Missense_Mutation_p.L282V	p.L282V			P59894	DCDC1_HUMAN			5	843	-	Lung SC(675;0.225)		282					A6PVL6|B7WNX6|Q6ZU04	Missense_Mutation	SNP	ENST00000452803.1	37	c.844C>G	CCDS7872.1	.	.	.	.	.	.	.	.	.	.	G	15.77	2.930331	0.52866	.	.	ENSG00000188682	ENST00000452803	D	0.93659	-3.26	5.48	4.55	0.56014	Doublecortin domain (1);	0.000000	0.44902	D	0.000419	D	0.91321	0.7263	L	0.49640	1.575	0.25490	N	0.987657	P	0.51537	0.946	P	0.46253	0.509	D	0.85414	0.1139	10	0.48119	T	0.1	-35.828	10.6125	0.45429	0.0:0.1341:0.7085:0.1574	.	282	P59894	DCDC1_HUMAN	V	282	ENSP00000389792:L282V	ENSP00000389792:L282V	L	-	1	0	DCDC1	31268886	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.940000	0.49003	1.395000	0.46643	0.655000	0.94253	CTT		0.393	DCDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316531.1	NM_181807		37	91	0	0	0	1	0	37	91					C	31312310	G	C	31312310	3	2	58	1	0	0	0	0	1	0	0	0	4284	942	33	5	232	5	DCDC1	11	31312310	Missense_Mutation	SNP	G	TCGA-EJ-5509-01A-01D-1576-08		31312310	103694206	26	3008											
MYBPC3	4607	broad.mit.edu	37	chr11	47360202	47360202	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtccttggtggtctccacgCggacccggccctcggtctca	3	9	13	16	4	2	0	1	0	2	0	6	1	3	1	4	6	0	0	4	6	0	1	rs397515953		TCGA-EJ-5509-01A-01D-1576-08	TCGA-EJ-5509-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fb0dad4-c9d6-4c38-9d1e-ee258dc133cb	a6bcbcc8-3e2b-454f-933d-cf8a793858c6	g.chr11:47360202C>T	ENST00000545968.1	-	23	2231	c.2177G>A	c.(2176-2178)cGc>cAc	p.R726H	MYBPC3_ENST00000256993.4_Missense_Mutation_p.R725H|MYBPC3_ENST00000399249.2_Missense_Mutation_p.R726H	NM_000256.3	NP_000247.2	Q14896	MYPC3_HUMAN	myosin binding protein C, cardiac	726	Ig-like C2-type 5.				cardiac muscle contraction (GO:0060048)|cell adhesion (GO:0007155)|heart morphogenesis (GO:0003007)|muscle filament sliding (GO:0030049)|myosin filament assembly (GO:0031034)|positive regulation of ATPase activity (GO:0032781)|regulation of heart rate (GO:0002027)|regulation of muscle filament sliding (GO:0032971)|regulation of striated muscle contraction (GO:0006942)|sarcomere organization (GO:0045214)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	A band (GO:0031672)|C zone (GO:0014705)|cytosol (GO:0005829)|sarcomere (GO:0030017)|striated muscle myosin thick filament (GO:0005863)	ATPase activator activity (GO:0001671)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|myosin binding (GO:0017022)|myosin heavy chain binding (GO:0032036)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)	p.R726H(2)		breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(4)|lung(16)|ovary(3)|prostate(3)|urinary_tract(2)	42				Lung(87;0.176)		GGTCTCCACGCGGACCCGGCC	0.642																																						ENST00000399249.2																			2	Substitution - Missense(2)	p.R726H(2)	prostate(2)	breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(4)|lung(16)|ovary(3)|prostate(3)|urinary_tract(2)	42						c.(2176-2178)cGc>cAc		myosin binding protein C, cardiac							50	51	51					11																	47360202		2061	4180	6241	SO:0001583	missense	4607				cardiac muscle contraction|cell adhesion|muscle filament sliding|regulation of muscle filament sliding|regulation of striated muscle contraction|ventricular cardiac muscle tissue morphogenesis	C zone|cytosol|striated muscle myosin thick filament	actin binding|ATPase activator activity|metal ion binding|myosin heavy chain binding|structural constituent of muscle|titin binding	g.chr11:47360202C>T	X84075	CCDS53621.1	11p11.2	2014-09-17	2001-11-28			ENSG00000134571		"Myosin binding proteins", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	7551	protein-coding gene	gene with protein product		600958	"myosin-binding protein C, cardiac"	CMH4		7744002, 8358441	Standard	NM_000256		Approved	MYBP-C, FHC	uc021qis.1	Q14896		ENST00000545968.1:c.2177G>A	11.37:g.47360202C>T	ENSP00000442795:p.Arg726His					MYBPC3_ENST00000545968.1_Missense_Mutation_p.R726H|MYBPC3_ENST00000256993.4_Missense_Mutation_p.R725H	p.R726H			Q14896	MYPC3_HUMAN		Lung(87;0.176)	22	2231	-			725			Ig-like C2-type 5.		A5PL00|Q16410|Q6R2F7|Q9UE27|Q9UM53	Missense_Mutation	SNP	ENST00000545968.1	37	c.2177G>A	CCDS53621.1	.	.	.	.	.	.	.	.	.	.	C	11.50	1.656730	0.29425	.	.	ENSG00000134571	ENST00000545968;ENST00000399249;ENST00000256993	T;T;T	0.68479	-0.33;-0.33;-0.33	5.4	2.25	0.28309	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.43656	0.1257	N	0.05554	-0.025	0.33747	D	0.620183	B	0.17667	0.023	B	0.25759	0.063	T	0.41805	-0.9488	9	0.23302	T	0.38	.	8.6969	0.34301	0.0:0.614:0.0:0.386	.	725	Q14896	MYPC3_HUMAN	H	726;726;725	ENSP00000442795:R726H;ENSP00000382193:R726H;ENSP00000256993:R725H	ENSP00000256993:R725H	R	-	2	0	MYBPC3	47316778	0.785000	0.28726	0.271000	0.24616	0.987000	0.75469	1.327000	0.33746	0.182000	0.20032	0.563000	0.77884	CGC		0.642	MYBPC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000392271.3			10	26	0	0	0	1	0	10	26					T	47360202	C	T	47360202	3	4	58	1	0	0	0	0	1	0	0	0	10013	768	27	1	1695	1	MYBPC3	11	47360202	Missense_Mutation	SNP	C	TCGA-EJ-5509-01A-01D-1576-08	16047892	47360202	87646314	27	3009											
CCDC88B	283234	broad.mit.edu	37	chr11	64116832	64116832	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaagctgtggtgcggggcaaGgagttgggggaccggctgga	8	6	21	6	2	0	0	0	0	0	0	0	3	0	3	1	8	2	4	1	8	2	1			TCGA-EJ-5509-01A-01D-1576-08	TCGA-EJ-5509-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fb0dad4-c9d6-4c38-9d1e-ee258dc133cb	a6bcbcc8-3e2b-454f-933d-cf8a793858c6	g.chr11:64116832G>T	ENST00000356786.5	+	15	2690	c.2646G>T	c.(2644-2646)aaG>aaT	p.K882N	CCDC88B_ENST00000463837.1_3'UTR|CCDC88B_ENST00000301897.4_5'UTR|CCDC88B_ENST00000359902.2_Missense_Mutation_p.K34N	NM_032251.5	NP_115627.6	A6NC98	CC88B_HUMAN	coiled-coil domain containing 88B	882						membrane (GO:0016020)		p.K882N(1)		endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						TGCGGGGCAAGGAGTTGGGGG	0.627																																						ENST00000356786.5																			1	Substitution - Missense(1)	p.K882N(1)	prostate(1)	endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(2644-2646)aaG>aaT		coiled-coil domain containing 88B							21	27	25					11																	64116832		2198	4296	6494	SO:0001583	missense	283234				microtubule cytoskeleton organization	cytoplasm	microtubule binding	g.chr11:64116832G>T	AK090436	CCDS8072.2	11q13.1	2013-03-13	2007-05-31	2007-05-31	ENSG00000168071	ENSG00000168071			26757	protein-coding gene	gene with protein product	"brain leucine zipper protein", "GRP78-interacting protein induced by ER stress"	611205	"coiled-coil domain containing 88"	CCDC88		15882442, 21289099	Standard	NM_032251		Approved	FLJ37970, BRLZ, HkRP3, FLJ00354, GIPIE	uc001nzy.3	A6NC98	OTTHUMG00000045419	ENST00000356786.5:c.2646G>T	11.37:g.64116832G>T	ENSP00000349238:p.Lys882Asn					CCDC88B_ENST00000301897.4_5'UTR|CCDC88B_ENST00000463837.1_3'UTR|CCDC88B_ENST00000359902.2_Missense_Mutation_p.K34N	p.K882N	NM_032251.5	NP_115627.6	A6NC98	CC88B_HUMAN			15	2690	+			882					A5D8Y5|B5MDM2|Q05BL2|Q6RUV3|Q8N1Q6|Q8NF44|Q9H0H1	Missense_Mutation	SNP	ENST00000356786.5	37	c.2646G>T	CCDS8072.2	.	.	.	.	.	.	.	.	.	.	g	12.58	1.979530	0.34942	.	.	ENSG00000168071	ENST00000377638;ENST00000356786;ENST00000359902	T;T	0.49720	1.91;0.77	3.68	2.75	0.32379	.	.	.	.	.	T	0.28995	0.0720	N	0.08118	0	0.80722	D	1	B;P;B;B	0.38020	0.201;0.615;0.358;0.201	B;B;B;B	0.40256	0.037;0.324;0.055;0.037	T	0.15292	-1.0442	9	0.72032	D	0.01	.	9.0518	0.36380	0.0:0.0:0.7794:0.2206	.	882;18;531;882	B2RTU8;A6NC98-5;A6NC98-3;A6NC98	.;.;.;CC88B_HUMAN	N	882;882;34	ENSP00000349238:K882N;ENSP00000352974:K34N	ENSP00000349238:K882N	K	+	3	2	CCDC88B	63873408	0.999000	0.42202	0.996000	0.52242	0.299000	0.27559	3.781000	0.55394	0.848000	0.35191	0.539000	0.68188	AAG		0.627	CCDC88B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000104845.1	NM_032251		3	18	1	0	0.115264	1	0.117286	3	18					T	64116832	G	T	64116832	3	4	58	1	0	0	0	0	1	0	0	0	2864	991	35	5	2704	5	CCDC88B	11	64116832	Missense_Mutation	SNP	G	TCGA-EJ-5509-01A-01D-1576-08	16756630	64116832	70889684	28	3010											
NLRX1	79671	broad.mit.edu	37	chr11	119045200	119045200	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	actcggccctctgccattggCcgtatccccagcaagtacgt	7	9	9	16	3	1	0	0	0	1	0	3	0	2	0	5	2	3	3	5	2	3	3			TCGA-EJ-5509-01A-01D-1576-08	TCGA-EJ-5509-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fb0dad4-c9d6-4c38-9d1e-ee258dc133cb	a6bcbcc8-3e2b-454f-933d-cf8a793858c6	g.chr11:119045200C>T	ENST00000409109.1	+	6	1475	c.888C>T	c.(886-888)ggC>ggT	p.G296G	NLRX1_ENST00000409991.1_Silent_p.G296G|NLRX1_ENST00000409265.4_Silent_p.G296G|NLRX1_ENST00000525863.1_Silent_p.G296G|NLRX1_ENST00000292199.2_Silent_p.G296G	NM_001282144.1	NP_001269073.1	Q86UT6	NLRX1_HUMAN	NLR family member X1	296	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.|Required for interaction with MAVS.				innate immune response (GO:0045087)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of inflammatory response (GO:0050728)|negative regulation of innate immune response (GO:0045824)|negative regulation of interferon-beta production (GO:0032688)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of RIG-I signaling pathway (GO:0039536)|negative regulation of type I interferon production (GO:0032480)|viral process (GO:0016032)	mitochondrial outer membrane (GO:0005741)	ATP binding (GO:0005524)	p.G296G(2)		cervix(1)|endometrium(2)|kidney(2)|lung(10)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	22	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)		CTGCCATTGGCCGTATCCCCA	0.547																																						ENST00000409109.1																			2	Substitution - coding silent(2)	p.G296G(2)	prostate(2)	cervix(1)|endometrium(2)|kidney(2)|lung(10)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	22						c.(886-888)ggC>ggT		NLR family member X1							141	144	143					11																	119045200		2200	4295	6495	SO:0001819	synonymous_variant	79671				innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production	mitochondrial outer membrane	ATP binding	g.chr11:119045200C>T	AB094095	CCDS8416.1	11q23.3	2007-02-07			ENSG00000160703	ENSG00000160703		"Nucleotide-binding domain and leucine rich repeat containing"	29890	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat containing X1", "NOD-like receptor X1", "NLR family, X1"	611947				12766759	Standard	XM_005271669		Approved	NOD9, CLR11.3	uc001pvw.3	Q86UT6	OTTHUMG00000154476	ENST00000409109.1:c.888C>T	11.37:g.119045200C>T						NLRX1_ENST00000409991.1_Silent_p.G296G|NLRX1_ENST00000292199.2_Silent_p.G296G|NLRX1_ENST00000409265.4_Silent_p.G296G|NLRX1_ENST00000525863.1_Silent_p.G296G	p.G296G			Q86UT6	NLRX1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)	6	1475	+	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)	296			NACHT.|Required for interaction with MAVS.		A8K6Q1|B3KPK2|B3KTA2|Q7RTR3|Q96D51|Q9H724	Silent	SNP	ENST00000409109.1	37	c.888C>T	CCDS8416.1																																																																																				0.547	NLRX1-004	PUTATIVE	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335403.1	NM_170722		5	260	0	0	0	1	0	5	260					T	119045200	C	T	119045200	2	4	58	1	0	0	0	0	0	0	0	1	10485	726	26	3		3	NLRX1	11	119045200	Silent	SNP	C	TCGA-EJ-5509-01A-01D-1576-08	54928368	119045200	15961316	29	3011											
LARP4	113251	broad.mit.edu	37	chr12	50847266	50847267	+	Frame_Shift_Ins	INS	-	-	T																															ggataaaagccatcaatacaINSttttttgctaagaatggtta																										TCGA-EJ-5509-01A-01D-1576-08	TCGA-EJ-5509-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fb0dad4-c9d6-4c38-9d1e-ee258dc133cb	a6bcbcc8-3e2b-454f-933d-cf8a793858c6	g.chr12:50847266_50847267insT	ENST00000398473.2	+	9	940_941	c.828_829insT	c.(829-831)tttfs	p.F277fs	LARP4_ENST00000518561.1_Frame_Shift_Ins_p.F207fs|LARP4_ENST00000429001.3_Frame_Shift_Ins_p.F283fs|LARP4_ENST00000293618.8_Frame_Shift_Ins_p.F277fs|LARP4_ENST00000518444.1_Frame_Shift_Ins_p.F276fs|LARP4_ENST00000347328.5_Intron|LARP4_ENST00000522085.1_Frame_Shift_Ins_p.F277fs	NM_052879.4|NM_199188.2	NP_443111.4|NP_954658.2	Q71RC2	LARP4_HUMAN	La ribonucleoprotein domain family, member 4	277	RRM.				cytoskeleton organization (GO:0007010)|regulation of cell morphogenesis (GO:0022604)	membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(1)|skin(2)|urinary_tract(1)	23						CCATCAATACATTTTTTGCTAA	0.322																																						ENST00000398473.2																			0				breast(3)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(1)|skin(2)|urinary_tract(1)	23						c.(826-831)acttttfs		La ribonucleoprotein domain family, member 4																																				SO:0001589	frameshift_variant	113251						nucleotide binding|RNA binding	g.chr12:50847266_50847267insT	AY004310	CCDS41782.1, CCDS44879.1, CCDS44880.1, CCDS44879.2, CCDS53789.1, CCDS53790.1	12q13.12	2005-08-09			ENSG00000161813	ENSG00000161813		"La ribonucleoprotein domain containing"	24320	protein-coding gene	gene with protein product						12477932	Standard	NM_052879		Approved	PP13296	uc001rwp.2	Q71RC2	OTTHUMG00000163724	ENST00000398473.2:c.834dupT	12.37:g.50847272_50847272dupT	ENSP00000381490:p.Phe277fs					LARP4_ENST00000293618.8_Frame_Shift_Ins_p.TF276fs|LARP4_ENST00000347328.5_Intron|LARP4_ENST00000522085.1_Frame_Shift_Ins_p.TF276fs|LARP4_ENST00000518561.1_Frame_Shift_Ins_p.TF206fs|LARP4_ENST00000518444.1_Frame_Shift_Ins_p.TF275fs|LARP4_ENST00000429001.3_Frame_Shift_Ins_p.TF282fs	p.TF276fs	NM_052879.4|NM_199188.2	NP_443111.4|NP_954658.2	Q71RC2	LARP4_HUMAN			9	940_941	+			276			RRM.		A8K6T1|E9PDG5|G3XAA8|G5E976|Q5CZ97|Q6ZV14|Q96NF9	Frame_Shift_Ins	INS	ENST00000398473.2	37	c.828_829insT	CCDS41782.1																																																																																				0.322	LARP4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000374981.1	NM_052879		7	170						7	170	---	---	---	---	T	50847267	-	T	50847266	7	5	58	1	0	1	1	0	0	0	0	0	8630	204	8	0	862	0	LARP4	12	50847266	Frame_Shift_Ins	INS	-	TCGA-EJ-5509-01A-01D-1576-08		50847266	83004629	30	3012											
CYP27B1	1594	broad.mit.edu	37	chr12	58160784	58160784	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actcgggcgcccagcggacgCgatggaacactctggaggcg	8	4	16	13	6	1	0	0	0	1	0	2	4	1	3	1	5	2	0	1	5	1	0	rs372223837		TCGA-EJ-5509-01A-01D-1576-08	TCGA-EJ-5509-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fb0dad4-c9d6-4c38-9d1e-ee258dc133cb	a6bcbcc8-3e2b-454f-933d-cf8a793858c6	g.chr12:58160784C>T	ENST00000228606.4	-	1	250	c.41G>A	c.(40-42)cGc>cAc	p.R14H	CYP27B1_ENST00000546496.1_5'Flank	NM_000785.3	NP_000776.1	O15528	CP27B_HUMAN	cytochrome P450, family 27, subfamily B, polypeptide 1	14					bone mineralization (GO:0030282)|calcitriol biosynthetic process from calciol (GO:0036378)|calcium ion homeostasis (GO:0055074)|calcium ion transport (GO:0006816)|decidualization (GO:0046697)|G1 to G0 transition (GO:0070314)|negative regulation of calcidiol 1-monooxygenase activity (GO:0010956)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of vitamin D 24-hydroxylase activity (GO:0010980)|positive regulation of vitamin D receptor signaling pathway (GO:0070564)|regulation of bone mineralization (GO:0030500)|response to estrogen (GO:0043627)|response to interferon-gamma (GO:0034341)|response to lipopolysaccharide (GO:0032496)|response to vitamin D (GO:0033280)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D catabolic process (GO:0042369)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	calcidiol 1-monooxygenase activity (GO:0004498)|heme binding (GO:0020037)|iron ion binding (GO:0005506)	p.R14H(1)		central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|urinary_tract(1)	15	all_cancers(7;8.09e-80)|Lung NSC(6;2.26e-27)|all_lung(6;1.99e-25)|all_epithelial(6;3.62e-18)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		GBM - Glioblastoma multiforme(5;1.97e-113)|all cancers(5;1.54e-78)|BRCA - Breast invasive adenocarcinoma(9;0.0294)		Alfacalcidol(DB01436)|Calcidiol(DB00146)|Corticotropin(DB01285)|Ergocalciferol(DB00153)	CCAGCGGACGCGATGGAACAC	0.627																																						ENST00000228606.4																			1	Substitution - Missense(1)	p.R14H(1)	prostate(1)	central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|urinary_tract(1)	15						c.(40-42)cGc>cAc		cytochrome P450, family 27, subfamily B, polypeptide 1	Calcidiol(DB00146)|Calcitriol(DB00136)|Ergocalciferol(DB00153)	C	HIS/ARG	0,4406		0,0,2203	81	97	92		41	4.3	0.9	12		92	2,8598	2.2+/-6.3	0,2,4298	no	missense	CYP27B1	NM_000785.3	29	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	possibly-damaging	14/509	58160784	2,13004	2203	4300	6503	SO:0001583	missense	1594				bone mineralization|calcium ion homeostasis|calcium ion transport|decidualization|G1 to G0 transition|hormone biosynthetic process|negative regulation of calcidiol 1-monooxygenase activity|negative regulation of cell growth|negative regulation of cell proliferation|positive regulation of keratinocyte differentiation|positive regulation of vitamin D 24-hydroxylase activity|positive regulation of vitamin D receptor signaling pathway|regulation of bone mineralization|response to estrogen stimulus|response to interferon-gamma|response to lipopolysaccharide|response to tumor necrosis factor|response to vitamin D|vitamin D biosynthetic process|xenobiotic metabolic process	mitochondrial outer membrane	calcidiol 1-monooxygenase activity|electron carrier activity|heme binding	g.chr12:58160784C>T	AB006987	CCDS8954.1	12q14.1	2013-11-13	2003-01-14		ENSG00000111012	ENSG00000111012		"Cytochrome P450s"	2606	protein-coding gene	gene with protein product	"VDDR I", "1alpha(OH)ase", "25-Hydroxyvitamin D3 1alpha-hydroxylase"	609506	"cytochrome P450, subfamily XXVIIB (25-hydroxyvitamin D-1-alpha-hydroxylase), polypeptide 1"	VDD1, PDDR		9295274, 9344864	Standard	NM_000785		Approved	CYP1, P450c1	uc001spz.1	O15528	OTTHUMG00000170457	ENST00000228606.4:c.41G>A	12.37:g.58160784C>T	ENSP00000228606:p.Arg14His					RP11-571M6.13_ENST00000546609.1_RNA	p.R14H	NM_000785.3	NP_000776.1	O15528	CP27B_HUMAN	GBM - Glioblastoma multiforme(5;1.97e-113)|all cancers(5;1.54e-78)|BRCA - Breast invasive adenocarcinoma(9;0.0294)		1	250	-	all_cancers(7;8.09e-80)|Lung NSC(6;2.26e-27)|all_lung(6;1.99e-25)|all_epithelial(6;3.62e-18)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		14					B2RC61|Q548T3	Missense_Mutation	SNP	ENST00000228606.4	37	c.41G>A	CCDS8954.1	.	.	.	.	.	.	.	.	.	.	C	22.2	4.259482	0.80246	0.0	2.33E-4	ENSG00000111012	ENST00000228606	T	0.76578	-1.03	5.26	4.3	0.51218	.	0.357603	0.29362	N	0.012371	T	0.59891	0.2227	N	0.08118	0	0.24516	N	0.994189	D	0.59767	0.986	P	0.44477	0.451	T	0.56780	-0.7922	10	0.42905	T	0.14	.	10.7297	0.46089	0.3203:0.6797:0.0:0.0	.	14	O15528	CP27B_HUMAN	H	14	ENSP00000228606:R14H	ENSP00000228606:R14H	R	-	2	0	CYP27B1	56447051	0.513000	0.26194	0.852000	0.33557	0.408000	0.30992	4.036000	0.57304	2.729000	0.93468	0.655000	0.94253	CGC		0.627	CYP27B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409248.1	NM_000785		7	190	0	0	0	1	0	7	190					T	58160784	C	T	58160784	3	4	58	1	0	0	0	0	1	0	0	0	4159	768	27	1	1521	1	CYP27B1	12	58160784	Missense_Mutation	SNP	C	TCGA-EJ-5509-01A-01D-1576-08	7313518	58160784	75691111	31	3013											
TMTC3	160418	broad.mit.edu	37	chr12	88568465	88568465	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acattccacagaaattgggaTtgggagtctgaatatacatt	14	12	9	6	0	1	2	0	1	1	1	2	4	2	4	1	2	1	0	1	2	4	6			TCGA-EJ-5509-01A-01D-1576-08	TCGA-EJ-5509-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fb0dad4-c9d6-4c38-9d1e-ee258dc133cb	a6bcbcc8-3e2b-454f-933d-cf8a793858c6	g.chr12:88568465T>C	ENST00000266712.6	+	9	1501	c.1281T>C	c.(1279-1281)gaT>gaC	p.D427D		NM_181783.3	NP_861448.2	Q6ZXV5	TMTC3_HUMAN	transmembrane and tetratricopeptide repeat containing 3	427					bud outgrowth involved in lung branching (GO:0060447)|lung alveolus development (GO:0048286)|muscle fiber development (GO:0048747)|post-embryonic development (GO:0009791)|regulation of gene expression (GO:0010468)	integral component of membrane (GO:0016021)		p.D427D(1)		NS(1)|breast(2)|endometrium(1)|kidney(4)|large_intestine(5)|liver(1)|lung(12)|prostate(4)|skin(1)	31						GAAATTGGGATTGGGAGTCTG	0.343																																						ENST00000266712.6																			1	Substitution - coding silent(1)	p.D427D(1)	prostate(1)	NS(1)|breast(2)|endometrium(1)|kidney(4)|large_intestine(5)|liver(1)|lung(12)|prostate(4)|skin(1)	31						c.(1279-1281)gaT>gaC		transmembrane and tetratricopeptide repeat containing 3							131	118	123					12																	88568465		2203	4298	6501	SO:0001819	synonymous_variant	160418					integral to membrane	binding	g.chr12:88568465T>C		CCDS9032.1	12q21.32	2014-09-04			ENSG00000139324	ENSG00000139324		"Tetratricopeptide (TTC) repeat domain containing"	26899	protein-coding gene	gene with protein product							Standard	NM_181783		Approved	FLJ90492, SMILE	uc001tau.3	Q6ZXV5	OTTHUMG00000169887	ENST00000266712.6:c.1281T>C	12.37:g.88568465T>C							p.D427D	NM_181783.3	NP_861448.2	Q6ZXV5	TMTC3_HUMAN			9	1501	+			427					Q5CZ86|Q5H9T6|Q68DQ6|Q68DX0|Q7Z332|Q8NC50	Silent	SNP	ENST00000266712.6	37	c.1281T>C	CCDS9032.1																																																																																				0.343	TMTC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406421.1	NM_181783		9	201	0	0	0	1	0	9	201					C	88568465	T	C	88568465	2	2	58	1	0	0	0	0	0	0	0	1	16259	1490	52	4		4	TMTC3	12	88568465	Silent	SNP	T	TCGA-EJ-5509-01A-01D-1576-08	30407681	88568465	45283430	32	3014											
FAM192A	80011	broad.mit.edu	37	chr16	57206263	57206263	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaagttggtctcatcttcaTctaagcctcttaccatgttt	8	16	7	10	0	5	0	2	0	4	0	6	1	5	1	2	2	2	2	2	2	3	5			TCGA-EJ-5509-01A-01D-1576-08	TCGA-EJ-5509-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fb0dad4-c9d6-4c38-9d1e-ee258dc133cb	a6bcbcc8-3e2b-454f-933d-cf8a793858c6	g.chr16:57206263T>C	ENST00000309137.8	-	4	506	c.248A>G	c.(247-249)gAt>gGt	p.D83G	FAM192A_ENST00000567439.1_Missense_Mutation_p.D83G|FAM192A_ENST00000569266.1_Missense_Mutation_p.D83G|FAM192A_ENST00000389447.5_Missense_Mutation_p.D83G|FAM192A_ENST00000566077.1_Missense_Mutation_p.D6G|FAM192A_ENST00000564108.1_Missense_Mutation_p.D83G	NM_024946.2	NP_079222.1	Q9GZU8	F192A_HUMAN	family with sequence similarity 192, member A	83						nucleus (GO:0005634)		p.D83G(1)		endometrium(2)|large_intestine(3)|lung(4)|prostate(2)	11						CTCATCTTCATCTAAGCCTCT	0.368																																						ENST00000309137.8																			1	Substitution - Missense(1)	p.D83G(1)	prostate(1)	endometrium(2)|large_intestine(3)|lung(4)|prostate(2)	11						c.(247-249)gAt>gGt		family with sequence similarity 192, member A							138	113	120					16																	57206263		1831	4092	5923	SO:0001583	missense	80011					nucleus		g.chr16:57206263T>C		CCDS42168.1	16q13	2009-08-19	2009-08-19	2009-08-19		ENSG00000172775			29856	protein-coding gene	gene with protein product	"NEFA interacting nuclear protein NIP30"		"chromosome 16 open reading frame 94"	C16orf94		12477932	Standard	NM_024946		Approved	NIP30	uc021tiy.1	Q9GZU8		ENST00000309137.8:c.248A>G	16.37:g.57206263T>C	ENSP00000335808:p.Asp83Gly					FAM192A_ENST00000567439.1_Missense_Mutation_p.D83G|FAM192A_ENST00000564108.1_Missense_Mutation_p.D83G|FAM192A_ENST00000569266.1_Missense_Mutation_p.D83G|FAM192A_ENST00000566077.1_Missense_Mutation_p.D6G|FAM192A_ENST00000389447.5_Missense_Mutation_p.D83G	p.D83G	NM_024946.2	NP_079222.1	Q9GZU8	F192A_HUMAN			4	506	-			83						Missense_Mutation	SNP	ENST00000309137.8	37	c.248A>G	CCDS42168.1	.	.	.	.	.	.	.	.	.	.	T	25.1	4.599793	0.87055	.	.	ENSG00000172775	ENST00000309137;ENST00000389447	.	.	.	5.42	5.42	0.78866	NEFA-interacting nuclear protein NIP30, N-terminal (1);	0.136951	0.64402	N	0.000003	T	0.76821	0.4041	M	0.88906	2.99	0.80722	D	1	P	0.47191	0.891	P	0.50708	0.648	T	0.82382	-0.0485	9	0.87932	D	0	-6.7122	15.7747	0.78204	0.0:0.0:0.0:1.0	.	83	Q9GZU8	F192A_HUMAN	G	83	.	ENSP00000335808:D83G	D	-	2	0	FAM192A	55763764	1.000000	0.71417	0.999000	0.59377	0.988000	0.76386	7.390000	0.79816	2.194000	0.70268	0.533000	0.62120	GAT		0.368	FAM192A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433022.2	NM_024946		3	137	0	0	0	1	0	3	137					C	57206263	T	C	57206263	3	2	58	1	0	0	0	0	1	0	0	0	5523	1435	50	4	532	4	FAM192A	16	57206263	Missense_Mutation	SNP	T	TCGA-EJ-5509-01A-01D-1576-08		57206263	33148490	33	3015											
KARS	3735	broad.mit.edu	37	chr16	75669946	75669946	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaactccaattatgtctcccCgacgcagtttgttattaata	11	14	6	10	2	1	0	0	0	1	0	3	2	2	0	3	0	1	3	3	0	6	5	rs201230388		TCGA-EJ-5509-01A-01D-1576-08	TCGA-EJ-5509-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fb0dad4-c9d6-4c38-9d1e-ee258dc133cb	a6bcbcc8-3e2b-454f-933d-cf8a793858c6	g.chr16:75669946C>A	ENST00000302445.3	-	5	572	c.533G>T	c.(532-534)cGg>cTg	p.R178L	KARS_ENST00000568378.1_Intron|KARS_ENST00000319410.5_Missense_Mutation_p.R206L	NM_005548.2	NP_005539.1	Q15046	SYK_HUMAN	lysyl-tRNA synthetase	178					cell death (GO:0008219)|diadenosine tetraphosphate biosynthetic process (GO:0015966)|gene expression (GO:0010467)|lysyl-tRNA aminoacylation (GO:0006430)|tRNA aminoacylation for protein translation (GO:0006418)|tRNA processing (GO:0008033)|viral process (GO:0016032)	aminoacyl-tRNA synthetase multienzyme complex (GO:0017101)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|microtubule cytoskeleton (GO:0015630)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	amino acid binding (GO:0016597)|ATP binding (GO:0005524)|lysine-tRNA ligase activity (GO:0004824)|metal ion binding (GO:0046872)|tRNA binding (GO:0000049)	p.R178L(1)		kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	18					L-Lysine(DB00123)	TATGTCTCCCCGACGCAGTTT	0.373																																						ENST00000319410.5																			1	Substitution - Missense(1)	p.R178L(1)	prostate(1)	kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	18						c.(616-618)cGg>cTg		lysyl-tRNA synthetase	L-Lysine(DB00123)						75	61	66					16																	75669946		2198	4300	6498	SO:0001583	missense	3735				interspecies interaction between organisms|lysyl-tRNA aminoacylation|tRNA processing	cytosol|extracellular region|mitochondrial matrix|nucleus|plasma membrane|soluble fraction	ATP binding|lysine-tRNA ligase activity|metal ion binding|tRNA binding	g.chr16:75669946C>A	AF285758	CCDS10923.1, CCDS45532.1	16q23.1	2014-09-17			ENSG00000065427	ENSG00000065427	6.1.1.6	"Aminoacyl tRNA synthetases / Class II"	6215	protein-coding gene	gene with protein product	"lysine tRNA ligase"	601421	"deafness, autosomal recessive 89"	DFNB89		8812440, 9278442, 23768514	Standard	NM_005548		Approved	KARS2, KARS1	uc002fer.3	Q15046	OTTHUMG00000137609	ENST00000302445.3:c.533G>T	16.37:g.75669946C>A	ENSP00000303043:p.Arg178Leu					KARS_ENST00000568378.1_Intron|KARS_ENST00000302445.3_Missense_Mutation_p.R178L	p.R206L	NM_001130089.1	NP_001123561.1	Q15046	SYK_HUMAN			6	738	-			178					A8MSK1|D3DUK4|O14946|Q96J25|Q9HB23	Missense_Mutation	SNP	ENST00000302445.3	37	c.617G>T	CCDS10923.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.330544	0.81690	.	.	ENSG00000065427	ENST00000319410;ENST00000302445	T;T	0.21361	2.01;2.01	6.17	6.17	0.99709	Nucleic acid-binding, OB-fold-like (1);Nucleic acid-binding, OB-fold (1);Nucleic acid binding, OB-fold, tRNA/helicase-type (1);	0.000000	0.85682	D	0.000000	T	0.20007	0.0481	L	0.39085	1.19	0.80722	D	1	B;B	0.30104	0.027;0.268	B;B	0.30495	0.017;0.116	T	0.04678	-1.0934	10	0.13470	T	0.59	-10.463	19.4575	0.94900	0.0:1.0:0.0:0.0	.	206;178	Q15046-2;Q15046	.;SYK_HUMAN	L	206;178	ENSP00000325448:R206L;ENSP00000303043:R178L	ENSP00000303043:R178L	R	-	2	0	KARS	74227447	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	7.603000	0.82811	2.941000	0.99782	0.655000	0.94253	CGG		0.373	KARS-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000269023.1	NM_005548		3	62	1	0	0.115264	1	0.117286	3	62					A	75669946	C	A	75669946	3	1	58	1	0	0	0	0	1	0	0	0	7980	652	23	5	1300	5	KARS	16	75669946	Missense_Mutation	SNP	C	TCGA-EJ-5509-01A-01D-1576-08	18463683	75669946	14684807	34	3016											
SPOP	8405	broad.mit.edu	37	chr17	47696425	47696425	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctacggatgaatttcttgAatccccagtctttgccttgc	7	15	7	12	1	3	2	0	2	3	0	4	3	4	3	3	1	3	0	3	1	3	5			TCGA-EJ-5509-01A-01D-1576-08	TCGA-EJ-5509-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fb0dad4-c9d6-4c38-9d1e-ee258dc133cb	a6bcbcc8-3e2b-454f-933d-cf8a793858c6	g.chr17:47696425A>C	ENST00000393328.2	-	6	763	c.398T>G	c.(397-399)tTc>tGc	p.F133C	SPOP_ENST00000393331.3_Missense_Mutation_p.F133C|SPOP_ENST00000347630.2_Missense_Mutation_p.F133C|SPOP_ENST00000503676.1_Missense_Mutation_p.F133C|SPOP_ENST00000504102.1_Missense_Mutation_p.F133C|SPOP_ENST00000513080.1_5'Flank	NM_003563.3	NP_003554.1	O43791	SPOP_HUMAN	speckle-type POZ protein	133	Important for binding substrate proteins.|MATH. {ECO:0000255|PROSITE- ProRule:PRU00129}.|Required for nuclear localization.				glucose homeostasis (GO:0042593)|positive regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902237)|positive regulation of type B pancreatic cell apoptotic process (GO:2000676)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	Cul3-RING ubiquitin ligase complex (GO:0031463)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	ubiquitin protein ligase binding (GO:0031625)	p.F133C(3)|p.F133S(2)		endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						GAATTTCTTGAATCCCCAGTC	0.448										Prostate(2;0.17)																												ENST00000393331.3																			5	Substitution - Missense(5)	p.F133C(3)|p.F133S(2)	prostate(5)	endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						c.(397-399)tTc>tGc		speckle-type POZ protein							119	120	120					17																	47696425		2203	4300	6503	SO:0001583	missense	8405				mRNA processing	nucleus	protein binding	g.chr17:47696425A>C	AJ000644	CCDS11551.1	17q21.33	2013-01-09			ENSG00000121067	ENSG00000121067		"BTB/POZ domain containing"	11254	protein-coding gene	gene with protein product		602650				9414087	Standard	NM_001007227		Approved	TEF2, BTBD32	uc002ipg.3	O43791	OTTHUMG00000161496	ENST00000393328.2:c.398T>G	17.37:g.47696425A>C	ENSP00000377001:p.Phe133Cys	Prostate(2;0.17)				SPOP_ENST00000504102.1_Missense_Mutation_p.F133C|SPOP_ENST00000503676.1_Missense_Mutation_p.F133C|SPOP_ENST00000393328.2_Missense_Mutation_p.F133C|SPOP_ENST00000347630.2_Missense_Mutation_p.F133C	p.F133C	NM_001007226.1|NM_001007227.1	NP_001007227.1|NP_001007228.1	O43791	SPOP_HUMAN			7	868	-			133			MATH.|Required for nuclear localization.		B2R6S3|D3DTW7|Q53HJ1	Missense_Mutation	SNP	ENST00000393328.2	37	c.398T>G	CCDS11551.1	.	.	.	.	.	.	.	.	.	.	A	20.8	4.055575	0.75960	.	.	ENSG00000121067	ENST00000393328;ENST00000393331;ENST00000347630;ENST00000504102;ENST00000503536;ENST00000503676;ENST00000513872;ENST00000509079;ENST00000505581;ENST00000507970;ENST00000514121	T;T;T;T;T;T;T;T;T	0.46063	0.88;0.88;0.88;0.88;0.88;0.88;0.88;0.88;0.88	5.41	5.41	0.78517	TRAF-type (1);TRAF-like (1);MATH (3);	0.000000	0.85682	D	0.000000	T	0.64789	0.2630	M	0.76328	2.33	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.67321	-0.5700	10	0.54805	T	0.06	-9.6576	15.258	0.73599	1.0:0.0:0.0:0.0	.	133	O43791	SPOP_HUMAN	C	133;133;133;133;17;133;86;133;133;133;133	ENSP00000377001:F133C;ENSP00000377004:F133C;ENSP00000240327:F133C;ENSP00000425905:F133C;ENSP00000420908:F133C;ENSP00000426986:F133C;ENSP00000420960:F133C;ENSP00000426262:F133C;ENSP00000424119:F133C	ENSP00000240327:F133C	F	-	2	0	SPOP	45051424	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.131000	0.94446	2.261000	0.74972	0.460000	0.39030	TTC		0.448	SPOP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365154.2	NM_003563		59	155	0	0	0	1	0	59	155					C	47696425	A	C	47696425	3	2	58	1	0	0	0	0	1	0	0	0	15083	246	9	5	750	5	SPOP	17	47696425	Missense_Mutation	SNP	A	TCGA-EJ-5509-01A-01D-1576-08		47696425	33498785	35	3017											
INTS2	57508	broad.mit.edu	37	chr17	59984779	59984779	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tattgaatacttgagtccagCgatccccatcaaagcacagt	13	10	7	11	1	1	2	1	2	0	0	3	3	3	2	3	0	3	1	3	0	4	4			TCGA-EJ-5509-01A-01D-1576-08	TCGA-EJ-5509-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fb0dad4-c9d6-4c38-9d1e-ee258dc133cb	a6bcbcc8-3e2b-454f-933d-cf8a793858c6	g.chr17:59984779C>A	ENST00000444766.3	-	8	1270	c.1195G>T	c.(1195-1197)Gct>Tct	p.A399S	INTS2_ENST00000251334.6_Missense_Mutation_p.A391S	NM_020748.2	NP_065799	Q9H0H0	INT2_HUMAN	integrator complex subunit 2	399					snRNA processing (GO:0016180)	integral component of membrane (GO:0016021)|integrator complex (GO:0032039)|intracellular (GO:0005622)|membrane (GO:0016020)		p.A399S(2)		NS(1)|breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	38						TTGAGTCCAGCGATCCCCATC	0.413																																						ENST00000444766.3																			2	Substitution - Missense(2)	p.A399S(2)	prostate(2)	NS(1)|breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	38						c.(1195-1197)Gct>Tct		integrator complex subunit 2							86	79	82					17																	59984779		1955	4157	6112	SO:0001583	missense	57508				snRNA processing	integral to membrane|integrator complex|nuclear membrane	protein binding	g.chr17:59984779C>A	AB033113	CCDS45750.1	17q23.2	2006-04-26	2006-03-15	2006-03-15		ENSG00000108506			29241	protein-coding gene	gene with protein product		611346	"KIAA1287"	KIAA1287		16239144	Standard	NR_026641		Approved	INT2	uc002izn.3	Q9H0H0		ENST00000444766.3:c.1195G>T	17.37:g.59984779C>A	ENSP00000414237:p.Ala399Ser					INTS2_ENST00000251334.6_Missense_Mutation_p.A391S	p.A399S	NM_020748.2	NP_065799.1	Q9H0H0	INT2_HUMAN			8	1270	-			399					Q9ULD3	Missense_Mutation	SNP	ENST00000444766.3	37	c.1195G>T	CCDS45750.1	.	.	.	.	.	.	.	.	.	.	C	28.3	4.909592	0.92107	.	.	ENSG00000108506	ENST00000444766;ENST00000251334	T	0.55760	0.5	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	T	0.67306	0.2879	L	0.42245	1.32	0.80722	D	1	D	0.67145	0.996	D	0.77004	0.989	T	0.61574	-0.7035	9	.	.	.	-15.0078	20.2087	0.98285	0.0:1.0:0.0:0.0	.	399	Q9H0H0	INT2_HUMAN	S	399;398	ENSP00000414237:A399S	.	A	-	1	0	INTS2	57339561	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.294000	0.78760	2.791000	0.96007	0.655000	0.94253	GCT		0.413	INTS2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000445368.1	NM_020748		2	6	1	0	0.0784	1	0.0842074	2	6					A	59984779	C	A	59984779	3	1	58	1	0	0	0	0	1	0	0	0	7778	768	27	5	2491	5	INTS2	17	59984779	Missense_Mutation	SNP	C	TCGA-EJ-5509-01A-01D-1576-08	12288354	59984779	21210431	36	3018											
SEPT9	10801	broad.mit.edu	37	chr17	75478262	75478262	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cagctgcgttggcgacatggCcgacacccccagagatgccg	8	5	13	15	4	0	1	0	0	0	1	0	4	0	1	4	2	3	2	4	2	0	1			TCGA-EJ-5509-01A-01D-1576-08	TCGA-EJ-5509-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fb0dad4-c9d6-4c38-9d1e-ee258dc133cb	a6bcbcc8-3e2b-454f-933d-cf8a793858c6	g.chr17:75478262C>T	ENST00000427177.1	+	4	884	c.758C>T	c.(757-759)gCc>gTc	p.A253V	SEPT9_ENST00000588690.1_Missense_Mutation_p.A89V|SEPT9_ENST00000431235.2_Missense_Mutation_p.A89V|SEPT9_ENST00000585930.1_Missense_Mutation_p.A29V|SEPT9_ENST00000592481.1_3'UTR|SEPT9_ENST00000329047.8_Missense_Mutation_p.A235V|SEPT9_ENST00000541152.2_Missense_Mutation_p.A2V|SEPT9_ENST00000427674.2_Missense_Mutation_p.A89V|SEPT9_ENST00000449803.2_Missense_Mutation_p.A89V|SEPT9_ENST00000592951.1_Missense_Mutation_p.A2V|SEPT9_ENST00000427180.1_Missense_Mutation_p.A141V|SEPT9_ENST00000591088.1_Missense_Mutation_p.A2V|SEPT9_ENST00000590294.1_Missense_Mutation_p.A235V|SEPT9_ENST00000592420.1_Missense_Mutation_p.A62V|SEPT9_ENST00000591198.1_Missense_Mutation_p.A234V|SEPT9_ENST00000590917.1_Missense_Mutation_p.A2V|SEPT9_ENST00000423034.2_Missense_Mutation_p.A246V	NM_001113491.1	NP_001106963.1	Q9UHD8	SEPT9_HUMAN	septin 9	253					cell cycle (GO:0007049)|cell division (GO:0051301)|GTP catabolic process (GO:0006184)|protein heterooligomerization (GO:0051291)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|perinuclear region of cytoplasm (GO:0048471)|stress fiber (GO:0001725)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)	p.A235V(2)|p.A141V(1)		autonomic_ganglia(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|prostate(2)	16			BRCA - Breast invasive adenocarcinoma(99;0.153)			GGCGACATGGCCGACACCCCC	0.652																																						ENST00000329047.8																			3	Substitution - Missense(3)	p.A235V(2)|p.A141V(1)	prostate(3)	autonomic_ganglia(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|prostate(2)	16						c.(703-705)gCc>gTc		septin 9							17	22	20					17																	75478262		2050	4181	6231	SO:0001583	missense	10801				cell cycle|cell division|protein heterooligomerization	microtubule|perinuclear region of cytoplasm|stress fiber	GTP binding|GTPase activity|protein binding	g.chr17:75478262C>T	AB023208	CCDS45790.1, CCDS45791.1, CCDS45792.1, CCDS45793.1, CCDS45794.1, CCDS45795.1, CCDS74166.1	17q25.3	2014-09-17	2005-01-11	2005-01-12	ENSG00000184640	ENSG00000184640		"Septins"	7323	protein-coding gene	gene with protein product	"Ov/Br septin"	604061	"MLL septin-like fusion"	MSF		10339604, 10485469	Standard	NM_006640		Approved	MSF1, KIAA0991, PNUTL4, AF17q25, SeptD1	uc002jts.4	Q9UHD8		ENST00000427177.1:c.758C>T	17.37:g.75478262C>T	ENSP00000391249:p.Ala253Val					SEPT9_ENST00000592481.1_3'UTR|SEPT9_ENST00000591088.1_Missense_Mutation_p.A2V|SEPT9_ENST00000431235.2_Missense_Mutation_p.A89V|SEPT9_ENST00000585930.1_Missense_Mutation_p.A29V|SEPT9_ENST00000590917.1_Missense_Mutation_p.A2V|SEPT9_ENST00000591198.1_Missense_Mutation_p.A234V|SEPT9_ENST00000423034.2_Missense_Mutation_p.A246V|SEPT9_ENST00000592420.1_Missense_Mutation_p.A62V|SEPT9_ENST00000427180.1_Missense_Mutation_p.A141V|SEPT9_ENST00000592951.1_Missense_Mutation_p.A2V|SEPT9_ENST00000427177.1_Missense_Mutation_p.A253V|SEPT9_ENST00000449803.2_Missense_Mutation_p.A89V|SEPT9_ENST00000427674.2_Missense_Mutation_p.A89V|SEPT9_ENST00000590294.1_Missense_Mutation_p.A235V|SEPT9_ENST00000588690.1_Missense_Mutation_p.A89V|SEPT9_ENST00000541152.2_Missense_Mutation_p.A2V	p.A235V	NM_006640.4	NP_006631.2	Q9UHD8	SEPT9_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.153)		3	1516	+			253					A8K2V3|B3KPM0|B4DTL9|B4E0N2|B4E274|B7Z654|Q96QF3|Q96QF4|Q96QF5|Q9HA04|Q9UG40|Q9Y5W4	Missense_Mutation	SNP	ENST00000427177.1	37	c.704C>T	CCDS45790.1	.	.	.	.	.	.	.	.	.	.	c	19.88	3.909234	0.72868	.	.	ENSG00000184640	ENST00000427177;ENST00000397613;ENST00000449803;ENST00000329047;ENST00000423034;ENST00000427674;ENST00000541152;ENST00000431235;ENST00000427180	T;T;T;T;T;T	0.47869	1.28;0.89;1.29;1.29;0.89;0.83	4.99	4.99	0.66335	.	2.794540	0.01175	U	0.006959	T	0.62998	0.2474	L	0.47716	1.5	0.32529	N	0.535257	B;P;P;D;B;B;B	0.59767	0.073;0.617;0.649;0.986;0.003;0.003;0.005	B;B;B;P;B;B;B	0.60886	0.059;0.173;0.228;0.88;0.001;0.004;0.002	T	0.47849	-0.9085	10	0.25751	T	0.34	.	12.7932	0.57545	0.0:0.9207:0.0:0.0793	.	29;234;141;214;246;235;253	Q9UHD8-9;Q9UHD8-7;Q9UHD8-8;Q1WWK5;Q9UHD8-5;Q9UHD8-2;Q9UHD8	.;.;.;.;.;.;SEPT9_HUMAN	V	253;2;89;235;246;89;29;2;141	ENSP00000391249:A253V;ENSP00000400181:A89V;ENSP00000329161:A235V;ENSP00000405877:A246V;ENSP00000403194:A89V;ENSP00000415624:A141V	ENSP00000329161:A235V	A	+	2	0	SEPT9	72989857	1.000000	0.71417	0.998000	0.56505	0.958000	0.62258	4.727000	0.61993	2.319000	0.78375	0.627000	0.83407	GCC		0.652	SEPT9-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000436304.2	NM_006640		3	13	0	0	0	1	0	3	13					T	75478262	C	T	75478262	3	4	58	1	0	0	0	0	1	0	0	0	14071	739	26	3	1246	3	SEPT9	17	75478262	Missense_Mutation	SNP	C	TCGA-EJ-5509-01A-01D-1576-08	15493483	75478262	5716948	37	3019											
COL5A3	50509	broad.mit.edu	37	chr19	10104082	10104082	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	accatcctctcctgggggacCgggttgccccacatggccaa	7	7	11	16	1	1	0	0	0	1	0	3	1	2	1	7	4	1	1	7	4	1	1			TCGA-EJ-5509-01A-01D-1576-08	TCGA-EJ-5509-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fb0dad4-c9d6-4c38-9d1e-ee258dc133cb	a6bcbcc8-3e2b-454f-933d-cf8a793858c6	g.chr19:10104082C>T	ENST00000264828.3	-	19	1808	c.1723G>A	c.(1723-1725)Ggt>Agt	p.G575S	CTD-2553C6.1_ENST00000592332.1_RNA	NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	collagen, type V, alpha 3	575	Triple-helical region.				axon guidance (GO:0007411)|cell-matrix adhesion (GO:0007160)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skin development (GO:0043588)	collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)	p.G575S(1)		NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116			Epithelial(33;7.11e-05)			CCTGGGGGACCGGGTTGCCCC	0.567																																						ENST00000264828.3																			1	Substitution - Missense(1)	p.G575S(1)	prostate(1)	NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116						c.(1723-1725)Ggt>Agt		collagen, type V, alpha 3							111	117	115					19																	10104082		2203	4300	6503	SO:0001583	missense	50509				collagen fibril organization|skin development	collagen type V	collagen binding|extracellular matrix structural constituent	g.chr19:10104082C>T	AF177941	CCDS12222.1	19p13.2	2013-01-16			ENSG00000080573	ENSG00000080573		"Collagens"	14864	protein-coding gene	gene with protein product		120216				10722718	Standard	NM_015719		Approved		uc002mmq.1	P25940	OTTHUMG00000150019	ENST00000264828.3:c.1723G>A	19.37:g.10104082C>T	ENSP00000264828:p.Gly575Ser						p.G575S	NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	Epithelial(33;7.11e-05)		19	1808	-			575			Triple-helical region.		Q9NZQ6	Missense_Mutation	SNP	ENST00000264828.3	37	c.1723G>A	CCDS12222.1	.	.	.	.	.	.	.	.	.	.	C	32	5.109160	0.94292	.	.	ENSG00000080573	ENST00000264828	D	0.97888	-4.59	5.57	5.57	0.84162	.	0.000000	0.64402	D	0.000001	D	0.99102	0.9691	H	0.94385	3.53	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.99383	1.0923	10	0.72032	D	0.01	.	17.0482	0.86510	0.0:1.0:0.0:0.0	.	575	P25940	CO5A3_HUMAN	S	575	ENSP00000264828:G575S	ENSP00000264828:G575S	G	-	1	0	COL5A3	9965082	1.000000	0.71417	0.933000	0.37362	0.813000	0.45954	6.531000	0.73820	2.634000	0.89283	0.563000	0.77884	GGT		0.567	COL5A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315788.1	NM_015719		6	256	0	0	0	1	0	6	256					T	10104082	C	T	10104082	3	4	58	1	0	0	0	0	1	0	0	0	3698	652	23	2	3710	2	COL5A3	19	10104082	Missense_Mutation	SNP	C	TCGA-EJ-5509-01A-01D-1576-08		10104082	49024901	38	3020											
ZNF831	128611	broad.mit.edu	37	chr20	57769548	57769548	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgtcttcccactcagggacGtcccggagccacagcacccg	7	7	10	17	3	2	0	1	0	1	0	4	2	4	2	4	2	2	1	4	2	0	2			TCGA-EJ-5509-01A-01D-1576-08	TCGA-EJ-5509-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fb0dad4-c9d6-4c38-9d1e-ee258dc133cb	a6bcbcc8-3e2b-454f-933d-cf8a793858c6	g.chr20:57769548G>A	ENST00000371030.2	+	1	3474	c.3474G>A	c.(3472-3474)acG>acA	p.T1158T		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	1158							metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)	p.T1158T(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					ACTCAGGGACGTCCCGGAGCC	0.672																																						ENST00000371030.2																			1	Substitution - coding silent(1)	p.T1158T(1)	prostate(1)	NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125						c.(3472-3474)acG>acA		zinc finger protein 831							44	51	48					20																	57769548		2038	4178	6216	SO:0001819	synonymous_variant	128611					intracellular	nucleic acid binding|zinc ion binding	g.chr20:57769548G>A	AL121919	CCDS42894.1	20q13.32	2008-10-20	2008-03-25	2008-03-25	ENSG00000124203	ENSG00000124203			16167	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 174"	C20orf174			Standard	NM_178457		Approved	dJ492J12.1	uc002yan.3	Q5JPB2	OTTHUMG00000032864	ENST00000371030.2:c.3474G>A	20.37:g.57769548G>A							p.T1158T	NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN			1	3474	+	all_lung(29;0.0085)		1158					Q5TDR4|Q8TCP0	Silent	SNP	ENST00000371030.2	37	c.3474G>A	CCDS42894.1																																																																																				0.672	ZNF831-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000079916.2	NM_178457		30	78	0	0	0	1	0	30	78					A	57769548	G	A	57769548	2	1	58	1	0	0	0	0	0	0	0	1	18182	1132	40	1		1	ZNF831	20	57769548	Silent	SNP	G	TCGA-EJ-5509-01A-01D-1576-08		57769548	5255972	39	3021											
CRYAA	1409	broad.mit.edu	37	chr21	44589279	44589279	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tctaccccagccggctgttcGaccagtttttcggcgagggc	5	10	12	14	4	1	0	0	0	1	0	3	2	1	0	4	3	2	3	4	3	1	4			TCGA-EJ-5509-01A-01D-1576-08	TCGA-EJ-5509-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fb0dad4-c9d6-4c38-9d1e-ee258dc133cb	a6bcbcc8-3e2b-454f-933d-cf8a793858c6	g.chr21:44589279G>A	ENST00000291554.2	+	1	162	c.70G>A	c.(70-72)Gac>Aac	p.D24N	CRYAA_ENST00000398132.1_5'Flank|CRYAA_ENST00000398133.1_5'Flank|CRYAA_ENST00000482775.1_3'UTR	NM_000394.2	NP_000385.1	P02489	CRYAA_HUMAN	crystallin, alpha A	24					negative regulation of apoptotic process (GO:0043066)|negative regulation of intracellular transport (GO:0032387)|protein homooligomerization (GO:0051260)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|structural constituent of eye lens (GO:0005212)|unfolded protein binding (GO:0051082)	p.D24N(1)		NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)	11						CCGGCTGTTCGACCAGTTTTT	0.617																																						ENST00000291554.2																			1	Substitution - Missense(1)	p.D24N(1)	prostate(1)	NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)	11						c.(70-72)Gac>Aac		crystallin, alpha A							130	134	132					21																	44589279		2203	4300	6503	SO:0001583	missense	1409				anti-apoptosis|negative regulation of intracellular transport|protein homooligomerization|response to heat|visual perception	cytoplasm|nucleus	structural constituent of eye lens|unfolded protein binding	g.chr21:44589279G>A		CCDS13695.1	21q22.3	2011-09-05			ENSG00000160202	ENSG00000160202		"Heat shock proteins / HSPB"	2388	protein-coding gene	gene with protein product		123580		CRYA1			Standard	XM_005261093		Approved	HSPB4	uc002zdd.1	P02489	OTTHUMG00000086842	ENST00000291554.2:c.70G>A	21.37:g.44589279G>A	ENSP00000291554:p.Asp24Asn					CRYAA_ENST00000482775.1_3'UTR	p.D24N	NM_000394.2	NP_000385.1	P02489	CRYAA_HUMAN			1	162	+			24					Q53X53	Missense_Mutation	SNP	ENST00000291554.2	37	c.70G>A	CCDS13695.1	.	.	.	.	.	.	.	.	.	.	G	31	5.058959	0.93846	.	.	ENSG00000160202	ENST00000291554	D	0.88818	-2.43	4.88	4.88	0.63580	Alpha-crystallin, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.95398	0.8506	M	0.88181	2.935	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.96326	0.9240	10	0.87932	D	0	-35.9483	18.0021	0.89200	0.0:0.0:1.0:0.0	.	24	P02489	CRYAA_HUMAN	N	24	ENSP00000291554:D24N	ENSP00000291554:D24N	D	+	1	0	CRYAA	43462348	1.000000	0.71417	0.997000	0.53966	0.763000	0.43281	8.858000	0.92256	2.256000	0.74724	0.609000	0.83330	GAC		0.617	CRYAA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195562.1			32	117	0	0	0	1	0	32	117					A	44589279	G	A	44589279	3	1	58	1	0	0	0	0	1	0	0	0	3905	1058	37	2	72	2	CRYAA	21	44589279	Missense_Mutation	SNP	G	TCGA-EJ-5509-01A-01D-1576-08		44589279	3540616	40	3022											
KDM6A	7403	broad.mit.edu	37	chrX	44938412	44938412	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cctgggacttttctctactaAaactttggtggaagctaaca	11	13	8	9	0	1	0	0	0	1	0	2	2	1	2	1	3	4	1	1	3	5	6			TCGA-EJ-5509-01A-01D-1576-08	TCGA-EJ-5509-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fb0dad4-c9d6-4c38-9d1e-ee258dc133cb	a6bcbcc8-3e2b-454f-933d-cf8a793858c6	g.chrX:44938412A>G	ENST00000377967.4	+	20	3001	c.2960A>G	c.(2959-2961)aAa>aGa	p.K987R	KDM6A_ENST00000543216.1_Missense_Mutation_p.K908R|KDM6A_ENST00000382899.4_Missense_Mutation_p.K994R|KDM6A_ENST00000536777.1_Missense_Mutation_p.K942R	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN	lysine (K)-specific demethylase 6A	987	Interaction with SUPT6H. {ECO:0000250}.				canonical Wnt signaling pathway (GO:0060070)|heart morphogenesis (GO:0003007)|histone H3-K4 methylation (GO:0051568)|in utero embryonic development (GO:0001701)|mesodermal cell differentiation (GO:0048333)|multicellular organism growth (GO:0035264)|neural tube closure (GO:0001843)|notochord morphogenesis (GO:0048570)|regulation of gene expression (GO:0010468)|respiratory system process (GO:0003016)|somite rostral/caudal axis specification (GO:0032525)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|histone demethylase activity (H3-K27 specific) (GO:0071558)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)	p.0?(6)|p.K987R(2)		NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						TTCTCTACTAAAACTTTGGTG	0.333			"D, N, F, S"		"renal, oesophageal SCC, MM"																																Colon(129;1273 1667 15230 27352 52914)	ENST00000377967.4				Rec	yes		X	Xp11.2	7403	"D, N, F, S"	"lysine (K)-specific demethylase 6A, UTX"			"E, L"			"renal, oesophageal SCC, MM"		8	Whole gene deletion(6)|Substitution - Missense(2)	p.0?(6)|p.K987R(2)	prostate(2)|oesophagus(2)|breast(2)|pancreas(2)	NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						c.(2959-2961)aAa>aGa		lysine (K)-specific demethylase 6A							73	63	67					X																	44938412		2203	4300	6503	SO:0001583	missense	7403				histone H3-K4 methylation		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chrX:44938412A>G	AF000992	CCDS14265.1	Xp11.2	2014-09-17	2009-04-17	2009-04-17	ENSG00000147050	ENSG00000147050		"Chromatin-modifying enzymes / K-demethylases", "Tetratricopeptide (TTC) repeat domain containing"	12637	protein-coding gene	gene with protein product		300128	"ubiquitously transcribed tetratricopeptide repeat, X chromosome"	UTX		9499428, 9381176	Standard	XM_005272655		Approved		uc004dge.4	O15550	OTTHUMG00000021402	ENST00000377967.4:c.2960A>G	X.37:g.44938412A>G	ENSP00000367203:p.Lys987Arg					KDM6A_ENST00000382899.4_Missense_Mutation_p.K994R|KDM6A_ENST00000536777.1_Missense_Mutation_p.K942R|KDM6A_ENST00000543216.1_Missense_Mutation_p.K908R	p.K987R	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN			20	3001	+			987					Q52LL9|Q5JVQ7	Missense_Mutation	SNP	ENST00000377967.4	37	c.2960A>G	CCDS14265.1	.	.	.	.	.	.	.	.	.	.	A	25.5	4.645544	0.87859	.	.	ENSG00000147050	ENST00000334516;ENST00000377967;ENST00000536777;ENST00000382899;ENST00000543216	T;T;T;T	0.70869	-0.52;-0.52;-0.52;-0.52	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	D	0.82999	0.5159	M	0.72894	2.215	0.80722	D	1	D;D;D;P;P;D	0.89917	0.993;0.974;1.0;0.855;0.932;0.998	D;D;D;P;P;D	0.91635	0.971;0.969;0.999;0.573;0.894;0.995	D	0.85173	0.0999	10	0.87932	D	0	-17.1857	14.6213	0.68588	1.0:0.0:0.0:0.0	.	626;994;942;1039;953;987	B4E0L8;F8W8R6;F5H6S1;B7ZKN5;B4E253;O15550	.;.;.;.;.;KDM6A_HUMAN	R	684;987;942;994;908	ENSP00000367203:K987R;ENSP00000437405:K942R;ENSP00000372355:K994R;ENSP00000443078:K908R	ENSP00000334340:K684R	K	+	2	0	KDM6A	44823356	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.962000	0.93254	1.833000	0.53350	0.481000	0.45027	AAA		0.333	KDM6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056324.1	NM_021140		4	59	0	0	0	1	0	4	59					G	44938412	A	G	44938412	3	3	58	1	0	0	0	0	1	0	0	0	8137	14	1	4	3038	4	KDM6A	23	44938412	Missense_Mutation	SNP	A	TCGA-EJ-5509-01A-01D-1576-08		44938412	110332148	41	3023											
LPHN2	23266	broad.mit.edu	37	chr1	82409004	82409004	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cataattaactatgccaactAccatgatacctcaccataca	16	10	2	13	0	1	1	1	1	0	0	1	1	1	1	4	0	6	0	4	0	7	6			TCGA-EJ-5510-01A-01D-1576-08	TCGA-EJ-5510-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c55ec8be-cd73-4275-8407-5814a1fc51d5	96d81c6a-b658-42f7-8102-6ff08f9ba464	g.chr1:82409004A>G	ENST00000370728.1	+	8	1394	c.749A>G	c.(748-750)tAc>tGc	p.Y250C	LPHN2_ENST00000319517.6_Missense_Mutation_p.Y250C|LPHN2_ENST00000370717.2_Missense_Mutation_p.Y250C|LPHN2_ENST00000370730.1_Missense_Mutation_p.Y250C|LPHN2_ENST00000370713.1_Missense_Mutation_p.Y250C|LPHN2_ENST00000271029.4_Missense_Mutation_p.Y250C|LPHN2_ENST00000359929.3_Missense_Mutation_p.Y250C|LPHN2_ENST00000370721.1_Missense_Mutation_p.Y254C|LPHN2_ENST00000370727.1_Missense_Mutation_p.Y250C|LPHN2_ENST00000394879.1_Missense_Mutation_p.Y250C|LPHN2_ENST00000370715.1_Missense_Mutation_p.Y250C|LPHN2_ENST00000370725.1_Missense_Mutation_p.Y250C|LPHN2_ENST00000335786.5_Missense_Mutation_p.Y250C|LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000370723.1_Missense_Mutation_p.Y250C			O95490	LPHN2_HUMAN	latrophilin 2	250	Olfactomedin-like. {ECO:0000255|PROSITE- ProRule:PRU00446}.				G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|G-protein coupled receptor activity (GO:0004930)|latrotoxin receptor activity (GO:0016524)	p.Y250C(2)		NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		TATGCCAACTACCATGATACC	0.403																																						ENST00000370728.1																			2	Substitution - Missense(2)	p.Y250C(2)	prostate(2)	NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119						c.(748-750)tAc>tGc		latrophilin 2							127	124	125					1																	82409004		2203	4299	6502	SO:0001583	missense	23266				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding	g.chr1:82409004A>G	AJ131581	CCDS689.1, CCDS72811.1	1p31.1	2014-08-08	2003-03-17	2003-05-02	ENSG00000117114	ENSG00000117114		"-", "GPCR / Class B : Orphans"	18582	protein-coding gene	gene with protein product		607018	"latrophilin 1"	LPHH1		10760572	Standard	XR_248786		Approved	KIAA0786, LEC1	uc001diu.3	O95490	OTTHUMG00000009844	ENST00000370728.1:c.749A>G	1.37:g.82409004A>G	ENSP00000359763:p.Tyr250Cys					LPHN2_ENST00000370721.1_Missense_Mutation_p.Y254C|LPHN2_ENST00000370723.1_Missense_Mutation_p.Y250C|LPHN2_ENST00000370713.1_Missense_Mutation_p.Y250C|LPHN2_ENST00000271029.4_Missense_Mutation_p.Y250C|LPHN2_ENST00000394879.1_Missense_Mutation_p.Y250C|LPHN2_ENST00000370717.2_Missense_Mutation_p.Y250C|LPHN2_ENST00000370730.1_Missense_Mutation_p.Y250C|LPHN2_ENST00000319517.6_Missense_Mutation_p.Y250C|LPHN2_ENST00000359929.3_Missense_Mutation_p.Y250C|LPHN2_ENST00000335786.5_Missense_Mutation_p.Y250C|LPHN2_ENST00000370715.1_Missense_Mutation_p.Y250C|LPHN2_ENST00000370727.1_Missense_Mutation_p.Y250C|LPHN2_ENST00000370725.1_Missense_Mutation_p.Y250C|LPHN2_ENST00000469377.2_Intron	p.Y250C			O95490	LPHN2_HUMAN		all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)	8	1394	+			250			Olfactomedin-like.		A5XEI2|B1ALT8|B1ALT9|B1ALU0|B1ALU2|B1ALU4|B1ALU5|B1ALU6|O94882|Q5VX76|Q9UKY5|Q9UKY6	Missense_Mutation	SNP	ENST00000370728.1	37	c.749A>G		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	16.94|16.94	3.260366|3.260366	0.59431|0.59431	.|.	.|.	ENSG00000117114|ENSG00000117114	ENST00000449420|ENST00000370721;ENST00000370728;ENST00000370730;ENST00000370727;ENST00000370725;ENST00000370723;ENST00000359929;ENST00000370715;ENST00000370713;ENST00000319517;ENST00000370717;ENST00000394879;ENST00000271029;ENST00000335786	.|D;D;D;D;D;D;D;D;D;D;D;D;D;D	.|0.89875	.|-2.58;-2.58;-2.58;-2.58;-2.58;-2.58;-2.58;-2.58;-2.58;-2.58;-2.58;-2.58;-2.58;-2.58	5.63|5.63	5.63|5.63	0.86233|0.86233	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.94647|0.94647	0.8274|0.8274	M|M	0.88906|0.88906	2.99|2.99	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|1.0;1.0;1.0	.|D;D;D	.|0.83275	.|0.996;0.991;0.996	D|D	0.95633|0.95633	0.8691|0.8691	5|10	.|0.87932	.|D	.|0	.|.	15.8525|15.8525	0.78943|0.78943	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|250;250;250	.|O95490-3;O95490-4;O95490-2	.|.;.;.	A|C	118|254;250;250;250;250;250;250;250;250;250;250;250;250;250	.|ENSP00000359756:Y254C;ENSP00000359763:Y250C;ENSP00000359765:Y250C;ENSP00000359762:Y250C;ENSP00000359760:Y250C;ENSP00000359758:Y250C;ENSP00000353006:Y250C;ENSP00000359750:Y250C;ENSP00000359748:Y250C;ENSP00000322270:Y250C;ENSP00000359752:Y250C;ENSP00000378344:Y250C;ENSP00000271029:Y250C;ENSP00000337306:Y250C	.|ENSP00000271029:Y250C	T|Y	+|+	1|2	0|0	LPHN2|LPHN2	82181592|82181592	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.988000|0.988000	0.76386|0.76386	8.962000|8.962000	0.93254|0.93254	2.142000|2.142000	0.66516|0.66516	0.374000|0.374000	0.22700|0.22700	ACC|TAC		0.403	LPHN2-007	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000027188.1	NM_012302		30	130	0	0	0	1	0	30	130					G	82409004	A	G	82409004	3	3	59	1	0	0	0	0	1	0	0	0	8916	391	14	4	763	4	LPHN2	1	82409004	Missense_Mutation	SNP	A	TCGA-EJ-5510-01A-01D-1576-08		82409004	166841617	1	3024											
SLC22A15	55356	broad.mit.edu	37	chr1	116574076	116574076	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cctcattgccaagaggaaccGcaaactcaagtgcacgttct	12	8	8	13	2	3	1	2	0	1	1	3	2	3	2	3	1	4	3	3	1	4	2			TCGA-EJ-5510-01A-01D-1576-08	TCGA-EJ-5510-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c55ec8be-cd73-4275-8407-5814a1fc51d5	96d81c6a-b658-42f7-8102-6ff08f9ba464	g.chr1:116574076G>A	ENST00000369503.4	+	6	948	c.818G>A	c.(817-819)cGc>cAc	p.R273H	SLC22A15_ENST00000369502.1_3'UTR	NM_018420.2	NP_060890.2	Q8IZD6	S22AF_HUMAN	solute carrier family 22, member 15	273					ion transport (GO:0006811)	integral component of membrane (GO:0016021)	transmembrane transporter activity (GO:0022857)			endometrium(1)|large_intestine(2)|lung(12)|prostate(1)|urinary_tract(1)	17	Lung SC(450;0.184)	all_cancers(81;3.17e-06)|all_epithelial(167;2.32e-06)|all_lung(203;9.81e-06)|Lung NSC(69;5.94e-05)		Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12)		AAGAGGAACCGCAAACTCAAG	0.512																																						ENST00000369503.4																			0				endometrium(1)|large_intestine(2)|lung(12)|prostate(1)|urinary_tract(1)	17						c.(817-819)cGc>cAc		solute carrier family 22, member 15							116	118	117					1																	116574076		2002	4169	6171	SO:0001583	missense	55356				ion transport	integral to membrane	transmembrane transporter activity	g.chr1:116574076G>A	AY145501	CCDS44198.1	1p12	2013-05-22	2008-01-11		ENSG00000163393	ENSG00000163393		"Solute carriers"	20301	protein-coding gene	gene with protein product		608275	"solute carrier family 22 (organic cation transporter), member 15"			12372408	Standard	NM_018420		Approved	FLIPT1	uc001egb.4	Q8IZD6	OTTHUMG00000012008	ENST00000369503.4:c.818G>A	1.37:g.116574076G>A	ENSP00000358515:p.Arg273His					SLC22A15_ENST00000369502.1_3'UTR	p.R273H	NM_018420.2	NP_060890.2	Q8IZD6	S22AF_HUMAN		Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12)	6	948	+	Lung SC(450;0.184)	all_cancers(81;3.17e-06)|all_epithelial(167;2.32e-06)|all_lung(203;9.81e-06)|Lung NSC(69;5.94e-05)	273					A8MUR3|Q6UXP5|Q8TAL9|Q9NSH5	Missense_Mutation	SNP	ENST00000369503.4	37	c.818G>A	CCDS44198.1	.	.	.	.	.	.	.	.	.	.	G	18.79	3.698581	0.68386	.	.	ENSG00000163393	ENST00000369503	T	0.59772	0.24	4.91	3.04	0.35103	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.219105	0.48286	N	0.000194	T	0.60457	0.2270	L	0.58669	1.825	0.80722	D	1	D	0.76494	0.999	D	0.72625	0.978	T	0.64546	-0.6382	10	0.66056	D	0.02	.	11.1494	0.48449	0.1497:0.0:0.8503:0.0	.	273	Q8IZD6	S22AF_HUMAN	H	273	ENSP00000358515:R273H	ENSP00000358515:R273H	R	+	2	0	SLC22A15	116375599	1.000000	0.71417	1.000000	0.80357	0.832000	0.47134	5.112000	0.64634	0.665000	0.31066	0.655000	0.94253	CGC		0.512	SLC22A15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033220.2	NM_018420		4	163	0	0	0	1	0	4	163					A	116574076	G	A	116574076	3	1	59	1	0	0	0	0	1	0	0	0	14446	1087	38	1	840	1	SLC22A15	1	116574076	Missense_Mutation	SNP	G	TCGA-EJ-5510-01A-01D-1576-08	34165072	116574076	132676545	2	3025											
NEK7	140609	broad.mit.edu	37	chr1	198233329	198233329	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gaactaaacatagttttggaActagcagatgctggcgacct	13	10	10	8	1	0	1	0	0	0	1	0	4	0	2	1	2	5	3	1	2	6	5			TCGA-EJ-5510-01A-01D-1576-08	TCGA-EJ-5510-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c55ec8be-cd73-4275-8407-5814a1fc51d5	96d81c6a-b658-42f7-8102-6ff08f9ba464	g.chr1:198233329A>G	ENST00000367385.4	+	5	678	c.336A>G	c.(334-336)gaA>gaG	p.E112E	NEK7_ENST00000538004.1_Silent_p.E112E	NM_133494.2	NP_598001.1	Q8TDX7	NEK7_HUMAN	NIMA-related kinase 7	112	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cytokinesis (GO:0000910)|protein phosphorylation (GO:0006468)|regulation of mitotic cell cycle (GO:0007346)|spindle assembly (GO:0051225)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)	p.E112E(1)		endometrium(3)|kidney(2)|large_intestine(5)|lung(2)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	21						TAGTTTTGGAACTAGCAGATG	0.299																																						ENST00000367385.4																			1	Substitution - coding silent(1)	p.E112E(1)	prostate(1)	endometrium(3)|kidney(2)|large_intestine(5)|lung(2)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	21						c.(334-336)gaA>gaG		NIMA-related kinase 7							93	102	99					1																	198233329		2203	4298	6501	SO:0001819	synonymous_variant	140609					cytoplasm	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr1:198233329A>G	AB062450	CCDS1394.1	1q31.3	2012-11-15	2012-11-15		ENSG00000151414	ENSG00000151414			13386	protein-coding gene	gene with protein product		606848	"NIMA (never in mitosis gene a)-related kinase 7"			11701951	Standard	NM_133494		Approved		uc001gun.4	Q8TDX7	OTTHUMG00000035658	ENST00000367385.4:c.336A>G	1.37:g.198233329A>G						NEK7_ENST00000538004.1_Silent_p.E112E	p.E112E	NM_133494.2	NP_598001.1	Q8TDX7	NEK7_HUMAN			5	678	+			112			Protein kinase.		A6NGT8	Silent	SNP	ENST00000367385.4	37	c.336A>G	CCDS1394.1																																																																																				0.299	NEK7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086550.2	NM_133494		25	201	0	0	0	1	0	25	201					G	198233329	A	G	198233329	2	3	59	1	0	0	0	0	0	0	0	1	10329	40	2	4		4	NEK7	1	198233329	Silent	SNP	A	TCGA-EJ-5510-01A-01D-1576-08	81659253	198233329	51017292	3	3026											
MCM6	4175	broad.mit.edu	37	chr2	136610460	136610460	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttgaatgcaaatctactatgCgcctggcaatggcataatct	12	12	8	9	1	2	1	0	1	2	0	2	1	2	1	1	2	3	3	1	2	6	4	rs200697022		TCGA-EJ-5510-01A-01D-1576-08	TCGA-EJ-5510-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c55ec8be-cd73-4275-8407-5814a1fc51d5	96d81c6a-b658-42f7-8102-6ff08f9ba464	g.chr2:136610460C>T	ENST00000264156.2	-	12	1712	c.1652G>A	c.(1651-1653)cGc>cAc	p.R551H	MCM6_ENST00000492091.1_Intron	NM_005915.5	NP_005906.2	Q14566	MCM6_HUMAN	minichromosome maintenance complex component 6	551	MCM.				DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA unwinding involved in DNA replication (GO:0006268)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)	MCM complex (GO:0042555)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA helicase activity (GO:0003678)|identical protein binding (GO:0042802)|single-stranded DNA binding (GO:0003697)	p.R551H(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(15)|prostate(2)|skin(1)	29				BRCA - Breast invasive adenocarcinoma(221;0.166)		ATCTACTATGCGCCTGGCAAT	0.368																																					Ovarian(196;141 2104 8848 24991 25939)	ENST00000264156.2																			1	Substitution - Missense(1)	p.R551H(1)	prostate(1)	breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(15)|prostate(2)|skin(1)	29						c.(1651-1653)cGc>cAc		minichromosome maintenance complex component 6	Atorvastatin(DB01076)	C	HIS/ARG	0,4406		0,0,2203	94	87	90		1652	5.8	1	2		90	1,8599	1.2+/-3.3	0,1,4299	yes	missense	MCM6	NM_005915.4	29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	551/822	136610460	1,13005	2203	4300	6503	SO:0001583	missense	4175				cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	MCM complex	ATP binding|identical protein binding	g.chr2:136610460C>T		CCDS2179.1	2q14-q21	2008-02-05	2007-04-04		ENSG00000076003	ENSG00000076003			6949	protein-coding gene	gene with protein product	"MIS5 homolog (S.pombe)"	601806	"minichromosome maintenance deficient (mis5, S. pombe) 6", "MCM6 minichromosome maintenance deficient 6 (MIS5 homolog, S. pombe) (S. cerevisiae)", "minichromosome maintenance deficient 6 homolog (S. cerevisiae)"				Standard	NM_005915		Approved	Mis5	uc002tuw.4	Q14566	OTTHUMG00000131739	ENST00000264156.2:c.1652G>A	2.37:g.136610460C>T	ENSP00000264156:p.Arg551His					MCM6_ENST00000492091.1_Intron	p.R551H	NM_005915.5	NP_005906.2	Q14566	MCM6_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.166)	12	1712	-			551			MCM.		B2R6H2|Q13504|Q99859	Missense_Mutation	SNP	ENST00000264156.2	37	c.1652G>A	CCDS2179.1	.	.	.	.	.	.	.	.	.	.	C	14.84	2.656269	0.47467	0.0	1.16E-4	ENSG00000076003	ENST00000264156	T	0.05081	3.5	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	T	0.03136	0.0092	N	0.03000	-0.44	0.80722	D	1	P	0.43024	0.798	B	0.38458	0.274	T	0.46400	-0.9194	10	0.02654	T	1	-9.537	19.978	0.97315	0.0:1.0:0.0:0.0	.	551	Q14566	MCM6_HUMAN	H	551	ENSP00000264156:R551H	ENSP00000264156:R551H	R	-	2	0	MCM6	136326930	1.000000	0.71417	0.995000	0.50966	0.998000	0.95712	7.440000	0.80464	2.733000	0.93635	0.557000	0.71058	CGC		0.368	MCM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254658.1	NM_005915		23	112	0	0	0	1	0	23	112					T	136610460	C	T	136610460	3	4	59	1	0	0	0	0	1	0	0	0	9391	768	27	1	837	1	MCM6	2	136610460	Missense_Mutation	SNP	C	TCGA-EJ-5510-01A-01D-1576-08		136610460	106588913	4	3027											
ATXN7	6314	broad.mit.edu	37	chr3	63898514	63898514	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaatggcgacggtcggggaGcgcaggcctctgcccagtcc	6	5	16	14	4	1	0	0	0	1	0	3	2	2	1	3	5	2	2	3	5	1	0			TCGA-EJ-5510-01A-01D-1576-08	TCGA-EJ-5510-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c55ec8be-cd73-4275-8407-5814a1fc51d5	96d81c6a-b658-42f7-8102-6ff08f9ba464	g.chr3:63898514G>A	ENST00000295900.6	+	3	790	c.240G>A	c.(238-240)gaG>gaA	p.E80E	ATXN7_ENST00000538065.1_Silent_p.E80E|ATXN7_ENST00000487717.1_Silent_p.E80E|ATXN7_ENST00000398590.3_Silent_p.E80E	NM_000333.3	NP_000324.1	O15265	ATX7_HUMAN	ataxin 7	80					cell death (GO:0008219)|chromatin organization (GO:0006325)|histone deubiquitination (GO:0016578)|microtubule cytoskeleton organization (GO:0000226)|negative regulation of insulin-like growth factor receptor signaling pathway (GO:0043569)|negative regulation of phosphorylation (GO:0042326)|nucleus organization (GO:0006997)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)	chromatin binding (GO:0003682)	p.E80E(2)		NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(12)|prostate(2)|stomach(1)|urinary_tract(3)	35		Prostate(884;0.0181)		BRCA - Breast invasive adenocarcinoma(55;0.000614)|KIRC - Kidney renal clear cell carcinoma(15;0.00294)|Kidney(15;0.00305)		CGGTCGGGGAGCGCAGGCCTC	0.711																																						ENST00000398590.3																			2	Substitution - coding silent(2)	p.E80E(2)	prostate(2)	NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(12)|prostate(2)|stomach(1)|urinary_tract(3)	35						c.(238-240)gaG>gaA		ataxin 7							45	48	47					3																	63898514		1942	4128	6070	SO:0001819	synonymous_variant	6314				cell death|histone deubiquitination|nucleus organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception	cytoplasm|nuclear matrix|nucleolus	protein binding|zinc ion binding	g.chr3:63898514G>A	AJ000517	CCDS43102.1, CCDS46861.1, CCDS46861.2, CCDS54603.1	3p21.1-p12	2014-09-17	2004-08-12	2004-08-12	ENSG00000163635	ENSG00000163635		"Ataxins"	10560	protein-coding gene	gene with protein product		607640	"spinocerebellar ataxia 7 (olivopontocerebellar atrophy with retinal degeneration)"	SCA7		7647798, 10598805	Standard	NM_000333		Approved	OPCA3, ADCAII	uc021wzy.1	O15265	OTTHUMG00000158763	ENST00000295900.6:c.240G>A	3.37:g.63898514G>A						ATXN7_ENST00000487717.1_Silent_p.E80E|ATXN7_ENST00000295900.6_Silent_p.E80E|ATXN7_ENST00000538065.1_Silent_p.E80E	p.E80E	NM_001177387.1	NP_001170858.1	O15265	ATX7_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000614)|KIRC - Kidney renal clear cell carcinoma(15;0.00294)|Kidney(15;0.00305)	3	793	+		Prostate(884;0.0181)	80					B4E207|E9PHP9|O75328|O75329|Q9Y6P8	Silent	SNP	ENST00000295900.6	37	c.240G>A	CCDS43102.1																																																																																				0.711	ATXN7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000352070.1	NM_000333		6	29	0	0	0	1	0	6	29					A	63898514	G	A	63898514	2	1	59	1	0	0	0	0	0	0	0	1	1215	962	34	3		3	ATXN7	3	63898514	Silent	SNP	G	TCGA-EJ-5510-01A-01D-1576-08		63898514	134123916	5	3028											
ADAMTS9	56999	broad.mit.edu	37	chr3	64554181	64554181	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	catgcagtaaacatttcgttGtttatgccctcgaccacaag	11	12	7	11	2	0	0	0	0	0	0	2	1	0	0	2	0	3	4	2	0	4	5			TCGA-EJ-5510-01A-01D-1576-08	TCGA-EJ-5510-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c55ec8be-cd73-4275-8407-5814a1fc51d5	96d81c6a-b658-42f7-8102-6ff08f9ba464	g.chr3:64554181G>A	ENST00000498707.1	-	29	4729	c.4387C>T	c.(4387-4389)Caa>Taa	p.Q1463*	ADAMTS9-AS1_ENST00000493124.1_RNA|ADAMTS9-AS1_ENST00000594810.1_RNA|ADAMTS9-AS1_ENST00000492209.1_RNA|ADAMTS9-AS1_ENST00000474313.1_RNA|ADAMTS9-AS1_ENST00000470447.1_RNA|ADAMTS9_ENST00000295903.4_Nonsense_Mutation_p.Q1435*|ADAMTS9-AS1_ENST00000601022.1_RNA	NM_182920.1	NP_891550.1	Q9P2N4	ATS9_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 9	1463	TSP type-1 11. {ECO:0000255|PROSITE- ProRule:PRU00210}.				glycoprotein catabolic process (GO:0006516)|multicellular organismal development (GO:0007275)|positive regulation of melanocyte differentiation (GO:0045636)|protein transport (GO:0015031)|proteolysis (GO:0006508)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.Q1463*(1)		breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	100		Lung NSC(201;0.00682)		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)		ACATTTCGTTGTTTATGCCCT	0.428																																						ENST00000498707.1																			1	Substitution - Nonsense(1)	p.Q1463*(1)	prostate(1)	breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	100						c.(4387-4389)Caa>Taa		ADAM metallopeptidase with thrombospondin type 1 motif, 9							148	137	140					3																	64554181		2203	4300	6503	SO:0001587	stop_gained	56999				glycoprotein catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr3:64554181G>A	AF261918	CCDS2903.1	3p14.1	2008-05-15	2005-08-19		ENSG00000163638	ENSG00000163638		"ADAM metallopeptidases with thrombospondin type 1 motif"	13202	protein-coding gene	gene with protein product		605421	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 9"			10936055	Standard	NM_182920		Approved	KIAA1312	uc003dmg.3	Q9P2N4	OTTHUMG00000158722	ENST00000498707.1:c.4387C>T	3.37:g.64554181G>A	ENSP00000418735:p.Gln1463*					ADAMTS9-AS1_ENST00000470447.1_RNA|ADAMTS9_ENST00000295903.4_Nonsense_Mutation_p.Q1435*|ADAMTS9-AS1_ENST00000474313.1_RNA|ADAMTS9-AS1_ENST00000493124.1_RNA|ADAMTS9-AS1_ENST00000594810.1_RNA|ADAMTS9-AS1_ENST00000492209.1_RNA	p.Q1463*	NM_182920.1	NP_891550.1	Q9P2N4	ATS9_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)	29	4729	-		Lung NSC(201;0.00682)	1463			TSP type-1 11.		A1L4L0|B7ZVX9|B9ZVN0|Q9NR29	Nonsense_Mutation	SNP	ENST00000498707.1	37	c.4387C>T	CCDS2903.1	.	.	.	.	.	.	.	.	.	.	G	46	12.237348	0.99649	.	.	ENSG00000163638	ENST00000295903;ENST00000498707	.	.	.	5.68	5.68	0.88126	.	0.449653	0.24647	N	0.036748	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.31617	T	0.26	.	9.2975	0.37824	0.0724:0.0:0.7824:0.1452	.	.	.	.	X	1435;1463	.	ENSP00000295903:Q1435X	Q	-	1	0	ADAMTS9	64529221	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	3.679000	0.54634	2.843000	0.97960	0.650000	0.86243	CAA		0.428	ADAMTS9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351891.1			32	153	0	0	0	1	0	32	153					A	64554181	G	A	64554181	4	1	59	1	0	0	0	0	0	1	0	0	273	1386	48	3	1464	3	ADAMTS9	3	64554181	Nonsense_Mutation	SNP	G	TCGA-EJ-5510-01A-01D-1576-08	655667	64554181	133468249	6	3029											
KIAA1109	84162	broad.mit.edu	37	chr4	123274248	123274248	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcgttcaaaatcttgggcccTttttcatttagaagaaccaa	12	14	6	9	1	3	2	2	0	1	2	4	2	3	2	2	1	1	1	2	1	6	6			TCGA-EJ-5510-01A-01D-1576-08	TCGA-EJ-5510-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c55ec8be-cd73-4275-8407-5814a1fc51d5	96d81c6a-b658-42f7-8102-6ff08f9ba464	g.chr4:123274248T>C	ENST00000264501.4	+	81	14412	c.14039T>C	c.(14038-14040)cTt>cCt	p.L4680P	KIAA1109_ENST00000388738.3_Missense_Mutation_p.L4680P			Q2LD37	K1109_HUMAN	KIAA1109	4680					regulation of cell growth (GO:0001558)|regulation of epithelial cell differentiation (GO:0030856)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						TCTTGGGCCCTTTTTCATTTA	0.373																																						ENST00000264501.4																			0				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						c.(14038-14040)cTt>cCt		KIAA1109							90	83	85					4																	123274248		1832	4082	5914	SO:0001583	missense	84162				regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus		g.chr4:123274248T>C	AL137384	CCDS43267.1	4q28.1	2012-07-09			ENSG00000138688	ENSG00000138688			26953	protein-coding gene	gene with protein product	"fragile site-associated"	611565				16386706	Standard	NM_015312		Approved	FLJ21404, FSA, KIAA1371, Tweek	uc003ieh.3	Q2LD37	OTTHUMG00000150116	ENST00000264501.4:c.14039T>C	4.37:g.123274248T>C	ENSP00000264501:p.Leu4680Pro					KIAA1109_ENST00000388738.3_Missense_Mutation_p.L4680P	p.L4680P			Q2LD37	K1109_HUMAN			81	14412	+			4680					Q4W598|Q5CZA9|Q6ZS70|Q6ZV75|Q86XA5|Q8WVD8|Q9H742|Q9NT48|Q9NTC3|Q9NTI4|Q9P2H6|Q9UPP3	Missense_Mutation	SNP	ENST00000264501.4	37	c.14039T>C	CCDS43267.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	20.3|20.3	3.966302|3.966302	0.74131|0.74131	.|.	.|.	ENSG00000138688|ENSG00000138688	ENST00000306802|ENST00000264501;ENST00000388738;ENST00000438707;ENST00000431755	.|T;T;T	.|0.57436	.|0.4;0.4;0.4	5.83|5.83	4.66|4.66	0.58398|0.58398	.|Fragile site-associated protein, C-terminal (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.52725|0.52725	0.1752|0.1752	M|M	0.73217|0.73217	2.22|2.22	0.80722|0.80722	D|D	1|1	.|B;B	.|0.18013	.|0.015;0.025	.|B;B	.|0.20184	.|0.011;0.028	T|T	0.53358|0.53358	-0.8450|-0.8450	5|10	.|0.87932	.|D	.|0	.|.	11.6639|11.6639	0.51363|0.51363	0.0:0.069:0.0:0.931|0.0:0.069:0.0:0.931	.|.	.|4679;4680	.|Q2LD37-4;Q2LD37	.|.;K1109_HUMAN	L|P	1056|4680;4680;1349;281	.|ENSP00000264501:L4680P;ENSP00000373390:L4680P;ENSP00000410874:L1349P	.|ENSP00000264501:L4680P	F|L	+|+	1|2	0|0	KIAA1109|KIAA1109	123493698|123493698	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	6.295000|6.295000	0.72744|0.72744	1.053000|1.053000	0.40415|0.40415	0.477000|0.477000	0.44152|0.44152	TTT|CTT		0.373	KIAA1109-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316415.1	NM_020797		3	182	0	0	0	1	0	3	182					C	123274248	T	C	123274248	3	2	59	1	0	0	0	0	1	0	0	0	8208	1609	56	4	14353	4	KIAA1109	4	123274248	Missense_Mutation	SNP	T	TCGA-EJ-5510-01A-01D-1576-08		123274248	67880028	7	3030											
ANXA6	309	broad.mit.edu	37	chr5	150509002	150509002	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agagggacttctcatacttgGtccggaagatctcccgaatg	10	10	11	10	2	2	2	1	0	2	2	5	5	3	4	2	3	1	0	2	3	3	3			TCGA-EJ-5510-01A-01D-1576-08	TCGA-EJ-5510-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c55ec8be-cd73-4275-8407-5814a1fc51d5	96d81c6a-b658-42f7-8102-6ff08f9ba464	g.chr5:150509002G>T	ENST00000354546.5	-	12	1111	c.884C>A	c.(883-885)aCc>aAc	p.T295N	ANXA6_ENST00000523714.1_Missense_Mutation_p.T263N|ANXA6_ENST00000377751.5_Intron|ANXA6_ENST00000521512.1_Missense_Mutation_p.T88N|ANXA6_ENST00000356496.5_Missense_Mutation_p.T295N	NM_001155.4	NP_001146.2	P08133	ANXA6_HUMAN	annexin A6	295					calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|protein homooligomerization (GO:0051260)|regulation of muscle contraction (GO:0006937)	extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|calcium-dependent protein binding (GO:0048306)|cholesterol binding (GO:0015485)|GTP binding (GO:0005525)|ligand-gated ion channel activity (GO:0015276)|lipid binding (GO:0008289)|protein homodimerization activity (GO:0042803)			endometrium(2)|kidney(1)|lung(9)	12		Medulloblastoma(196;0.0912)|all_hematologic(541;0.208)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CTCATACTTGGTCCGGAAGAT	0.557																																						ENST00000354546.5																			0				endometrium(2)|kidney(1)|lung(9)	12						c.(883-885)aCc>aAc		annexin A6							69	67	68					5																	150509002		2004	4179	6183	SO:0001583	missense	309					melanosome	calcium ion binding|calcium-dependent phospholipid binding|protein binding	g.chr5:150509002G>T	J03578	CCDS47315.1, CCDS54941.1	5q33.1	2008-02-05			ENSG00000197043	ENSG00000197043		"Annexins"	544	protein-coding gene	gene with protein product		114070		ANX6		3258820	Standard	NM_001155		Approved		uc003ltl.2	P08133	OTTHUMG00000164179	ENST00000354546.5:c.884C>A	5.37:g.150509002G>T	ENSP00000346550:p.Thr295Asn					ANXA6_ENST00000377751.5_Intron|ANXA6_ENST00000523714.1_Missense_Mutation_p.T263N|ANXA6_ENST00000356496.5_Missense_Mutation_p.T295N|ANXA6_ENST00000521512.1_Missense_Mutation_p.T88N	p.T295N	NM_001155.4	NP_001146.2	P08133	ANXA6_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		12	1111	-		Medulloblastoma(196;0.0912)|all_hematologic(541;0.208)	295					B7Z8A7|D3DQH4|E9PGK1|Q6ZT79	Missense_Mutation	SNP	ENST00000354546.5	37	c.884C>A	CCDS47315.1	.	.	.	.	.	.	.	.	.	.	G	18.04	3.533876	0.64972	.	.	ENSG00000197043	ENST00000354546;ENST00000523714;ENST00000356496;ENST00000521512;ENST00000540153	T;T;T;T	0.03242	4.0;4.0;4.0;4.0	4.95	4.95	0.65309	Annexin repeat, conserved site (1);	0.225312	0.47455	D	0.000238	T	0.07773	0.0195	N	0.24115	0.695	0.48288	D	0.99962	P;B;B	0.48294	0.908;0.277;0.173	P;B;B	0.55667	0.781;0.352;0.352	T	0.45101	-0.9284	10	0.42905	T	0.14	.	16.9665	0.86287	0.0:0.0:1.0:0.0	.	88;295;295	E5RK69;A6NN80;P08133	.;.;ANXA6_HUMAN	N	295;263;295;88;169	ENSP00000346550:T295N;ENSP00000430517:T263N;ENSP00000348889:T295N;ENSP00000430420:T88N	ENSP00000346550:T295N	T	-	2	0	ANXA6	150489195	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.634000	0.54302	2.300000	0.77407	0.511000	0.50034	ACC		0.557	ANXA6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000377668.2	NM_001155		7	54	1	0	2.0095e-06	1	2.10752e-06	7	54					T	150509002	G	T	150509002	3	4	59	1	0	0	0	0	1	0	0	0	722	1261	44	5	1197	5	ANXA6	5	150509002	Missense_Mutation	SNP	G	TCGA-EJ-5510-01A-01D-1576-08		150509002	30406258	8	3031											
COL11A2	1302	broad.mit.edu	37	chr6	33138676	33138676	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tccctggggtccccgagctcCgggctccccatctgctccct	2	9	10	20	2	1	0	0	0	1	0	6	1	6	0	7	3	2	3	7	3	0	0	rs550153707		TCGA-EJ-5510-01A-01D-1576-08	TCGA-EJ-5510-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c55ec8be-cd73-4275-8407-5814a1fc51d5	96d81c6a-b658-42f7-8102-6ff08f9ba464	g.chr6:33138676C>T	ENST00000374708.4	-	44	3385	c.3127G>A	c.(3127-3129)Gga>Aga	p.G1043R	COL11A2_ENST00000395197.1_Missense_Mutation_p.G1069R|COL11A2_ENST00000374713.1_Missense_Mutation_p.G1082R|COL11A2_ENST00000477772.1_Intron|COL11A2_ENST00000374714.1_Missense_Mutation_p.G1103R|COL11A2_ENST00000357486.1_Missense_Mutation_p.G1108R|COL11A2_ENST00000374712.1_Missense_Mutation_p.G1048R|COL11A2_ENST00000341947.2_Missense_Mutation_p.G1129R|COL11A2_ENST00000361917.1_Missense_Mutation_p.G1022R	NM_080681.2	NP_542412.2	P13942	COBA2_HUMAN	collagen, type XI, alpha 2	1129	Triple-helical region.				cartilage development (GO:0051216)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|palate development (GO:0060021)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|soft palate development (GO:0060023)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)	p.G1129R(1)		biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						CCCCGAGCTCCGGGCTCCCCA	0.577													C|||	1	0.000199681	0	0	5008	,	,		17441	0		0.001	False		,,,				2504	0				Melanoma(1;90 116 3946 5341 17093)	ENST00000341947.2																			1	Substitution - Missense(1)	p.G1129R(1)	prostate(1)	biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						c.(3385-3387)Gga>Aga		collagen, type XI, alpha 2							68	75	72					6																	33138676		1510	2709	4219	SO:0001583	missense	1302				cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development	collagen type XI	extracellular matrix structural constituent conferring tensile strength|protein binding, bridging	g.chr6:33138676C>T	U32169	CCDS43452.1, CCDS54992.1	6p21.3	2013-01-16			ENSG00000204248	ENSG00000204248		"Collagens"	2187	protein-coding gene	gene with protein product		120290		DFNA13, DFNB53		7559422, 10581026	Standard	NM_080679		Approved	HKE5	uc003ocx.1	P13942	OTTHUMG00000031036	ENST00000374708.4:c.3127G>A	6.37:g.33138676C>T	ENSP00000363840:p.Gly1043Arg					COL11A2_ENST00000374708.4_Missense_Mutation_p.G1043R|COL11A2_ENST00000477772.1_Intron|COL11A2_ENST00000374713.1_Missense_Mutation_p.G1082R|COL11A2_ENST00000357486.1_Missense_Mutation_p.G1108R|COL11A2_ENST00000395197.1_Missense_Mutation_p.G1069R|COL11A2_ENST00000374712.1_Missense_Mutation_p.G1048R|COL11A2_ENST00000374714.1_Missense_Mutation_p.G1103R|COL11A2_ENST00000361917.1_Missense_Mutation_p.G1022R	p.G1129R	NM_080680.2	NP_542411.2	P13942	COBA2_HUMAN			46	3612	-			1129	EPGARGP -> GAGGLGT (in Ref. 6; AAA52034).		Triple-helical region.		A6NLX2|E7ER90|Q07751|Q13271|Q13272|Q13273|Q5JP94|Q5SUI8|Q7Z6C3|Q99866|Q9UIP9	Missense_Mutation	SNP	ENST00000374708.4	37	c.3385G>A	CCDS43452.1	.	.	.	.	.	.	.	.	.	.	C	17.35	3.366271	0.61513	.	.	ENSG00000204248	ENST00000374708;ENST00000341947;ENST00000357486;ENST00000374714;ENST00000374713;ENST00000395197;ENST00000374712;ENST00000361917	D;D;D;D;D;D;D;D	0.99353	-5.53;-5.53;-5.77;-5.77;-5.77;-5.53;-5.77;-5.77	4.86	4.86	0.63082	.	0.000000	0.64402	D	0.000001	D	0.99667	0.9876	H	0.97365	3.99	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.97512	1.0067	10	0.87932	D	0	.	15.5206	0.75862	0.0:1.0:0.0:0.0	.	1022;1043;1129	P13942-8;P13942-6;P13942	.;.;COBA2_HUMAN	R	1043;1129;1108;1103;1082;1069;1048;1022	ENSP00000363840:G1043R;ENSP00000339915:G1129R;ENSP00000350079:G1108R;ENSP00000363846:G1103R;ENSP00000363845:G1082R;ENSP00000378623:G1069R;ENSP00000363844:G1048R;ENSP00000355123:G1022R	ENSP00000339915:G1129R	G	-	1	0	COL11A2	33246654	1.000000	0.71417	0.985000	0.45067	0.842000	0.47809	7.266000	0.78452	2.510000	0.84645	0.551000	0.68910	GGA		0.577	COL11A2-001	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000076032.2			8	141	0	0	0	1	0	8	141					T	33138676	C	T	33138676	3	4	59	1	0	0	0	0	1	0	0	0	3668	661	23	2	1909	2	COL11A2	6	33138676	Missense_Mutation	SNP	C	TCGA-EJ-5510-01A-01D-1576-08		33138676	137976391	9	3032											
WRN	7486	broad.mit.edu	37	chr8	30958414	30958414	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cactgtatttctgagtggggGcatgattttagggattcatt	8	16	12	5	0	2	2	1	2	1	0	2	3	2	3	0	3	0	2	0	3	2	6			TCGA-EJ-5510-01A-01D-1576-08	TCGA-EJ-5510-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c55ec8be-cd73-4275-8407-5814a1fc51d5	96d81c6a-b658-42f7-8102-6ff08f9ba464	g.chr8:30958414G>A	ENST00000298139.5	+	18	2280	c.2031G>A	c.(2029-2031)ggG>ggA	p.G677G		NM_000553.4	NP_000544.2	Q14191	WRN_HUMAN	Werner syndrome, RecQ helicase-like	677	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				aging (GO:0007568)|ATP catabolic process (GO:0006200)|base-excision repair (GO:0006284)|cell aging (GO:0007569)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|cellular response to starvation (GO:0009267)|DNA duplex unwinding (GO:0032508)|DNA metabolic process (GO:0006259)|DNA recombination (GO:0006310)|DNA replication (GO:0006260)|DNA synthesis involved in DNA repair (GO:0000731)|double-strand break repair (GO:0006302)|multicellular organismal aging (GO:0010259)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleolus to nucleoplasm transport (GO:0032066)|positive regulation of hydrolase activity (GO:0051345)|regulation of apoptotic process (GO:0042981)|regulation of growth rate (GO:0040009)|replication fork processing (GO:0031297)|replicative cell aging (GO:0001302)|response to oxidative stress (GO:0006979)|response to UV-C (GO:0010225)|telomere maintenance (GO:0000723)	centrosome (GO:0005813)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	3'-5' DNA helicase activity (GO:0043138)|3'-5' exonuclease activity (GO:0008408)|ATP binding (GO:0005524)|ATP-dependent 3'-5' DNA helicase activity (GO:0043140)|ATP-dependent DNA helicase activity (GO:0004003)|ATPase activity (GO:0016887)|bubble DNA binding (GO:0000405)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|exonuclease activity (GO:0004527)|four-way junction helicase activity (GO:0009378)|G-quadruplex DNA binding (GO:0051880)|helicase activity (GO:0004386)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|protein complex binding (GO:0032403)|protein homodimerization activity (GO:0042803)|Y-form DNA binding (GO:0000403)			central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(13)|lung(28)|ovary(3)|skin(3)|upper_aerodigestive_tract(3)	60		Breast(100;0.195)		KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192)		CTGAGTGGGGGCATGATTTTA	0.408			"Mis, N, F, S"			"osteosarcoma, meningioma, others"		Genes defective in diseases associated with sensitivity to DNA damaging agents	Werner syndrome																												Ovarian(18;161 598 2706 14834 27543)	ENST00000298139.5			yes	Rec		Werner Syndrome	8	8p12-p11.2	7486	"Mis, N, F, S"	Werner syndrome (RECQL2)			"L, E, M, O"		"osteosarcoma, meningioma, others"			0				central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(13)|lung(28)|ovary(3)|skin(3)|upper_aerodigestive_tract(3)	60						c.(2029-2031)ggG>ggA	Genes defective in diseases associated with sensitivity to DNA damaging agents	Werner syndrome, RecQ helicase-like							99	91	94					8																	30958414		2203	4300	6503	SO:0001819	synonymous_variant	7486	Werner syndrome	Familial Cancer Database	WS, Adult Progeria	base-excision repair|cellular response to starvation|DNA recombination|DNA synthesis involved in DNA repair|multicellular organismal aging|nucleolus to nucleoplasm transport|positive regulation of hydrolase activity|regulation of apoptosis|replication fork processing|response to oxidative stress|response to UV-C|telomere maintenance	centrosome|nucleolus|nucleoplasm	3'-5' exonuclease activity|ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|four-way junction helicase activity|G-quadruplex DNA binding|magnesium ion binding|manganese ion binding|protein complex binding|protein homodimerization activity|Y-form DNA binding	g.chr8:30958414G>A		CCDS6082.1	8p12	2014-09-17	2009-03-19		ENSG00000165392	ENSG00000165392			12791	protein-coding gene	gene with protein product		604611	"Werner syndrome"			9288107	Standard	NM_000553		Approved	RECQL2, RECQ3	uc003xio.4	Q14191	OTTHUMG00000163894	ENST00000298139.5:c.2031G>A	8.37:g.30958414G>A							p.G677G	NM_000553.4	NP_000544.2	Q14191	WRN_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192)	18	2280	+		Breast(100;0.195)	677			Helicase ATP-binding.		A1KYY9	Silent	SNP	ENST00000298139.5	37	c.2031G>A	CCDS6082.1																																																																																				0.408	WRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376248.1			3	65	0	0	0	1	0	3	65					A	30958414	G	A	30958414	2	1	59	1	0	0	0	0	0	0	0	1	17399	1190	42	3		3	WRN	8	30958414	Silent	SNP	G	TCGA-EJ-5510-01A-01D-1576-08		30958414	115405608	10	3033											
C9orf125	84302	broad.mit.edu	37	chr9	104239189	104239189	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ctttgctgcaggaactcttgGctcatttggttcagatgcca	7	14	10	10	0	3	1	2	0	1	1	3	2	3	2	1	3	4	4	1	3	1	4			TCGA-EJ-5510-01A-01D-1576-08	TCGA-EJ-5510-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c55ec8be-cd73-4275-8407-5814a1fc51d5	96d81c6a-b658-42f7-8102-6ff08f9ba464	g.chr9:104239189G>T	ENST00000374851.1	-	4	1333	c.186C>A	c.(184-186)agC>agA	p.S62R	RP11-490D19.6_ENST00000425734.1_RNA|RP11-490D19.6_ENST00000450109.1_RNA|RP11-490D19.6_ENST00000424154.1_RNA|TMEM246_ENST00000374847.1_Missense_Mutation_p.S62R|TMEM246_ENST00000374848.3_Missense_Mutation_p.S62R|RP11-490D19.6_ENST00000431507.1_RNA			Q9BRR3	TM246_HUMAN	transmembrane protein 246	62						integral component of membrane (GO:0016021)		p.S62R(2)									GGAACTCTTGGCTCATTTGGT	0.547																																						ENST00000374851.1																			2	Substitution - Missense(2)	p.S62R(2)	prostate(2)								c.(184-186)agC>agA		transmembrane protein 246							74	75	75					9																	104239189		2203	4300	6503	SO:0001583	missense	84302					integral to membrane		g.chr9:104239189G>T	BC006115	CCDS6757.1	9q31.1	2012-04-02	2012-04-02	2012-04-02	ENSG00000165152	ENSG00000165152			28180	protein-coding gene	gene with protein product			"chromosome 9 open reading frame 125"	C9orf125		12477932	Standard	NM_032342		Approved	MGC12992	uc004bbm.3	Q9BRR3	OTTHUMG00000020381	ENST00000374851.1:c.186C>A	9.37:g.104239189G>T	ENSP00000363984:p.Ser62Arg					TMEM246_ENST00000374848.3_Missense_Mutation_p.S62R|RP11-490D19.6_ENST00000450109.1_RNA|RP11-490D19.6_ENST00000431507.1_RNA|RP11-490D19.6_ENST00000425734.1_RNA|TMEM246_ENST00000374847.1_Missense_Mutation_p.S62R|RP11-490D19.6_ENST00000424154.1_RNA	p.S62R			Q9BRR3	CI125_HUMAN			4	1333	-			62					Q49AQ4	Missense_Mutation	SNP	ENST00000374851.1	37	c.186C>A	CCDS6757.1	.	.	.	.	.	.	.	.	.	.	g	16.10	3.026476	0.54683	.	.	ENSG00000165152	ENST00000374848;ENST00000374847;ENST00000374851	.	.	.	5.63	0.606	0.17559	.	0.000000	0.85682	D	0.000000	T	0.38957	0.1060	L	0.48642	1.525	0.47698	D	0.999499	P	0.46142	0.873	B	0.40066	0.318	T	0.16100	-1.0414	9	0.19147	T	0.46	-19.8232	9.2417	0.37500	0.4266:0.0:0.5734:0.0	.	62	Q9BRR3	CI125_HUMAN	R	62	.	ENSP00000363980:S62R	S	-	3	2	C9orf125	103279010	0.997000	0.39634	0.995000	0.50966	0.999000	0.98932	0.390000	0.20768	-0.158000	0.11040	0.645000	0.84053	AGC		0.547	TMEM246-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053444.1	NM_032342		30	91	1	0	1.75199e-13	1	1.93168e-13	30	91					T	104239189	G	T	104239189	3	4	59	1	0	0	0	0	1	0	0	0	2454	1194	42	5	1029	5	C9orf125	9	104239189	Missense_Mutation	SNP	G	TCGA-EJ-5510-01A-01D-1576-08		104239189	36974242	11	3034											
TSC1	7248	broad.mit.edu	37	chr9	135780989	135780989	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgttcagctccttgctgtgcGcgtctgctccctgctgtatc	2	15	10	14	2	2	0	1	0	1	0	5	0	4	0	2	0	5	6	2	0	1	3	rs118203609		TCGA-EJ-5510-01A-01D-1576-08	TCGA-EJ-5510-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c55ec8be-cd73-4275-8407-5814a1fc51d5	96d81c6a-b658-42f7-8102-6ff08f9ba464	g.chr9:135780989G>A	ENST00000298552.3	-	15	2197	c.1976C>T	c.(1975-1977)gCg>gTg	p.A659V	TSC1_ENST00000545250.1_Missense_Mutation_p.A608V|TSC1_ENST00000440111.2_Missense_Mutation_p.A659V	NM_000368.4|NM_001162426.1|NM_001162427.1	NP_000359.1|NP_001155898.1|NP_001155899.1	Q92574	TSC1_HUMAN	tuberous sclerosis 1	659					activation of Rho GTPase activity (GO:0032862)|cardiac muscle cell differentiation (GO:0055007)|cell cycle arrest (GO:0007050)|cell projection organization (GO:0030030)|cell-matrix adhesion (GO:0007160)|cerebral cortex development (GO:0021987)|hippocampus development (GO:0021766)|insulin receptor signaling pathway (GO:0008286)|kidney development (GO:0001822)|myelination (GO:0042552)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of TOR signaling (GO:0032007)|negative regulation of translation (GO:0017148)|neural tube closure (GO:0001843)|positive regulation of focal adhesion assembly (GO:0051894)|potassium ion transport (GO:0006813)|protein heterooligomerization (GO:0051291)|protein stabilization (GO:0050821)|regulation of cell cycle (GO:0051726)|regulation of cell-matrix adhesion (GO:0001952)|regulation of phosphoprotein phosphatase activity (GO:0043666)|regulation of protein kinase activity (GO:0045859)|regulation of stress fiber assembly (GO:0051492)|regulation of translation (GO:0006417)|response to insulin (GO:0032868)|rRNA export from nucleus (GO:0006407)|synapse organization (GO:0050808)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)|intracellular membrane-bounded organelle (GO:0043231)|lamellipodium (GO:0030027)|membrane (GO:0016020)|protein complex (GO:0043234)|TSC1-TSC2 complex (GO:0033596)	chaperone binding (GO:0051087)|GTPase regulator activity (GO:0030695)|protein N-terminus binding (GO:0047485)	p.?(1)		NS(1)|bone(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(9)|lung(20)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	65				OV - Ovarian serous cystadenocarcinoma(145;4.32e-08)|Epithelial(140;2.72e-06)		CTTGCTGTGCGCGTCTGCTCC	0.478			"D, Mis, N, F, S"			"hamartoma, renal cell"			Tuberous Sclerosis																													ENST00000298552.3			yes	Rec		Tuberous sclerosis 1	9	9q34	7248	"D, Mis, N, F, S"	tuberous sclerosis 1 gene			"E, O"		"hamartoma, renal cell"			1	Unknown(1)	p.?(1)	bone(1)	NS(1)|bone(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(9)|lung(20)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	65						c.(1975-1977)gCg>gTg		tuberous sclerosis 1		G	VAL/ALA,VAL/ALA,VAL/ALA	2,4404	4.2+/-10.8	0,2,2201	195	172	180	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	1976,1973,1823	3.9	0.3	9	dbSNP_132	180	0,8600		0,0,4300	no	missense,missense,missense	TSC1	NM_000368.4,NM_001162426.1,NM_001162427.1	64,64,64	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	benign,benign,benign	659/1165,658/1164,608/1114	135780989	2,13004	2203	4300	6503	SO:0001583	missense	0	Tuberous Sclerosis	Familial Cancer Database	TS, Tuberous Sclerosis Complex, TSC, Bourneville-Pringle disease	activation of Rho GTPase activity|cell cycle arrest|cell-matrix adhesion|insulin receptor signaling pathway|negative regulation of cell proliferation|negative regulation of protein ubiquitination|negative regulation of TOR signaling cascade|negative regulation of translation|positive regulation of focal adhesion assembly|regulation of phosphoprotein phosphatase activity|regulation of stress fiber assembly|rRNA export from nucleus	cell cortex|lamellipodium|membrane|TSC1-TSC2 complex	chaperone binding|protein N-terminus binding	g.chr9:135780989G>A	AF013168	CCDS6956.1, CCDS55350.1	9q34	2014-09-17			ENSG00000165699	ENSG00000165699			12362	protein-coding gene	gene with protein product		605284		TSC		9242607, 10806479	Standard	NM_000368		Approved	KIAA0243, LAM, hamartin	uc004cca.2	Q92574	OTTHUMG00000020844	ENST00000298552.3:c.1976C>T	9.37:g.135780989G>A	ENSP00000298552:p.Ala659Val					TSC1_ENST00000545250.1_Missense_Mutation_p.A608V|TSC1_ENST00000440111.2_Missense_Mutation_p.A659V	p.A659V	NM_000368.4|NM_001162426.1|NM_001162427.1	NP_000359.1|NP_001155898.1|NP_001155899.1	Q92574	TSC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;4.32e-08)|Epithelial(140;2.72e-06)	15	2197	-			659					B7Z897|Q5VVN5	Missense_Mutation	SNP	ENST00000298552.3	37	c.1976C>T	CCDS6956.1	.	.	.	.	.	.	.	.	.	.	G	15.85	2.954298	0.53293	4.54E-4	0.0	ENSG00000165699	ENST00000298552;ENST00000440111;ENST00000545250	D;D;D	0.91686	-2.89;-2.89;-2.89	5.74	3.91	0.45181	.	0.202935	0.52532	N	0.000077	D	0.88134	0.6355	L	0.46885	1.475	0.80722	D	1	B;B	0.23249	0.082;0.082	B;B	0.25759	0.063;0.063	T	0.82096	-0.0626	10	0.28530	T	0.3	-4.1833	11.4	0.49864	0.1455:0.0:0.8545:0.0	.	608;659	B7Z897;Q92574	.;TSC1_HUMAN	V	659;659;608	ENSP00000298552:A659V;ENSP00000394524:A659V;ENSP00000444017:A608V	ENSP00000298552:A659V	A	-	2	0	TSC1	134770810	1.000000	0.71417	0.260000	0.24451	0.937000	0.57800	5.630000	0.67805	0.780000	0.33566	0.650000	0.86243	GCG		0.478	TSC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054799.1			5	230	0	0	0	1	0	5	230					A	135780989	G	A	135780989	3	1	59	1	0	0	0	0	1	0	0	0	16602	1087	38	1	1554	1	TSC1	9	135780989	Missense_Mutation	SNP	G	TCGA-EJ-5510-01A-01D-1576-08	31541800	135780989	5432442	12	3035											
FBXO18	84893	broad.mit.edu	37	chr10	5979235	5979235	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgaggccctgctcttcctcGtcttctgaggacaaggcgca	7	10	11	13	2	3	2	0	2	3	0	5	3	4	3	2	3	1	2	2	3	1	2			TCGA-EJ-5510-01A-01D-1576-08	TCGA-EJ-5510-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c55ec8be-cd73-4275-8407-5814a1fc51d5	96d81c6a-b658-42f7-8102-6ff08f9ba464	g.chr10:5979235G>A	ENST00000362091.4	+	21	3239	c.3124G>A	c.(3124-3126)Gtc>Atc	p.V1042I	FBXO18_ENST00000397269.3_Missense_Mutation_p.V546I|FBXO18_ENST00000379999.5_Missense_Mutation_p.V1093I|RP11-536K7.3_ENST00000397264.4_RNA	NM_001258453.1|NM_178150.2	NP_001245382.1|NP_835363.1	Q8NFZ0	FBX18_HUMAN	F-box protein, helicase, 18	1042					DNA catabolic process, endonucleolytic (GO:0000737)|positive regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902231)|positive regulation of protein phosphorylation (GO:0001934)|response to intra-S DNA damage checkpoint signaling (GO:0072429)	nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)	p.V1093I(2)		NS(2)|breast(2)|kidney(2)|large_intestine(16)|lung(9)|ovary(2)|prostate(3)|skin(3)|stomach(1)	40						GCTCTTCCTCGTCTTCTGAGG	0.657																																						ENST00000379999.5																			2	Substitution - Missense(2)	p.V1093I(2)	prostate(1)|lung(1)	NS(2)|breast(2)|kidney(2)|large_intestine(16)|lung(9)|ovary(2)|prostate(3)|skin(3)|stomach(1)	40						c.(3277-3279)Gtc>Atc		F-box protein, helicase, 18							22	20	21					10																	5979235		2203	4300	6503	SO:0001583	missense	84893				DNA repair	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding	g.chr10:5979235G>A	AK095343	CCDS7072.1, CCDS7073.1, CCDS73064.1	10p15.1	2004-08-24	2004-06-15		ENSG00000134452	ENSG00000134452		"F-boxes /  "other""	13620	protein-coding gene	gene with protein product		607222	"F-box only protein 18"			10531037, 11956208	Standard	NM_032807		Approved	FBH1, FLJ14590, Fbx18	uc001iit.4	Q8NFZ0	OTTHUMG00000017609	ENST00000362091.4:c.3124G>A	10.37:g.5979235G>A	ENSP00000355415:p.Val1042Ile					FBXO18_ENST00000379994.1_3'UTR|FBXO18_ENST00000362091.4_Missense_Mutation_p.V1042I|FBXO18_ENST00000397269.3_Missense_Mutation_p.V546I|RP11-536K7.3_ENST00000397264.3_RNA	p.V1093I	NM_032807.4	NP_116196.3	Q8NFZ0	FBX18_HUMAN			22	3381	+			1042					Q5JVB0|Q5JVB1|Q7Z4Q6|Q7Z4R0|Q8N1P5|Q8N586|Q96E82|Q96K67|Q96SW7|Q9UFB2	Missense_Mutation	SNP	ENST00000362091.4	37	c.3277G>A	CCDS7072.1	.	.	.	.	.	.	.	.	.	.	.	16.33	3.092533	0.56075	.	.	ENSG00000134452	ENST00000397269;ENST00000362091;ENST00000379999	.	.	.	5.21	4.3	0.51218	.	0.246394	0.33650	N	0.004692	T	0.17109	0.0411	N	0.12182	0.205	0.27198	N	0.960244	B;B;B	0.33379	0.41;0.287;0.287	B;B;B	0.20577	0.03;0.013;0.013	T	0.10706	-1.0618	9	0.32370	T	0.25	-25.1536	10.4447	0.44486	0.0914:0.0:0.9085:0.0	.	1093;1042;968	Q8NFZ0-2;Q8NFZ0;Q2TAK1	.;FBX18_HUMAN;.	I	546;1042;1093	.	ENSP00000355415:V1042I	V	+	1	0	FBXO18	6019241	0.970000	0.33590	0.993000	0.49108	0.944000	0.59088	1.742000	0.38248	2.454000	0.82982	0.531000	0.56144	GTC		0.657	FBXO18-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046596.1	NM_032807		3	22	0	0	0	1	0	3	22					A	5979235	G	A	5979235	3	1	59	1	0	0	0	0	1	0	0	0	5731	1145	40	1	3368	1	FBXO18	10	5979235	Missense_Mutation	SNP	G	TCGA-EJ-5510-01A-01D-1576-08		5979235	129555512	13	3036											
CCDC7	79741	broad.mit.edu	37	chr10	32856778	32856778	+	Missense_Mutation	SNP	G	G	A																															aatcactggtttcagattcaGgtggacaaaggacaagtgat																										TCGA-EJ-5510-01A-01D-1576-08	TCGA-EJ-5510-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c55ec8be-cd73-4275-8407-5814a1fc51d5	96d81c6a-b658-42f7-8102-6ff08f9ba464	g.chr10:32856778G>A	ENST00000362006.5	+	16	1921	c.1378G>A	c.(1378-1380)Ggt>Agt	p.G460S	C10orf68_ENST00000375028.3_De_novo_Start_OutOfFrame|C10orf68_ENST00000572165.1_3'UTR|C10orf68_ENST00000375030.2_De_novo_Start_InFrame|CCDC7_ENST00000277657.6_Missense_Mutation_p.G460S	NM_145023.4	NP_659460.3	Q96M83	CCDC7_HUMAN	coiled-coil domain containing 7	460								p.G460S(1)		NS(1)|breast(2)|cervix(1)|endometrium(1)|large_intestine(3)|lung(4)|prostate(2)	14		Breast(68;0.000207)|Prostate(175;0.0107)				TTCAGATTCAGGTGGACAAAG	0.328																																						ENST00000375028.3																			1	Substitution - Missense(1)	p.G460S(1)	prostate(1)	breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(4)	29								chromosome 10 open reading frame 68							77	77	77					10																	32856778		2203	4299	6502	SO:0001583	missense	79741							g.chr10:32856778G>A	BC022020	CCDS7173.1	10p11.23	2013-12-13			ENSG00000216937	ENSG00000216937			26533	protein-coding gene	gene with protein product			"chromosome 10 open reading frame 68"	C10orf68		12477932	Standard	NM_024688		Approved	FLJ32762, FLJ13031	uc001iwk.3	Q96M83	OTTHUMG00000150517	ENST00000362006.5:c.1378G>A	10.37:g.32856778G>A	ENSP00000355078:p.Gly460Ser					C10orf68_ENST00000375030.2_De_novo_Start_InFrame|CCDC7_ENST00000362006.5_Missense_Mutation_p.G460S|C10orf68_ENST00000572165.1_3'UTR|CCDC7_ENST00000277657.6_Missense_Mutation_p.G460S				Q9H943	CJ068_HUMAN			0	15	+								Q5VW55|Q8IVQ0|Q8NEQ0	Translation_Start_Site	SNP	ENST00000362006.5	37		CCDS7173.1	.	.	.	.	.	.	.	.	.	.	G	13.58	2.279800	0.40294	.	.	ENSG00000216937	ENST00000277657;ENST00000362006;ENST00000435402	T;T;T	0.59906	1.14;1.14;0.23	4.3	-0.844	0.10741	.	.	.	.	.	T	0.35008	0.0917	N	0.24115	0.695	0.09310	N	1	P	0.46784	0.884	B	0.40940	0.344	T	0.18840	-1.0324	9	0.26408	T	0.33	-4.4983	3.2962	0.06966	0.4132:0.0:0.4031:0.1837	.	460	Q96M83	CCDC7_HUMAN	S	460;460;129	ENSP00000277657:G460S;ENSP00000355078:G460S;ENSP00000401923:G129S	ENSP00000277657:G460S	G	+	1	0	CCDC7	32896784	0.000000	0.05858	0.000000	0.03702	0.256000	0.26092	-0.733000	0.04898	-0.057000	0.13199	0.650000	0.86243	GGT		0.328	CCDC7-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047490.1	NM_145023		9	89	0	0	0	1	0	9	89					A	32856778	G	A	32856778	3	1	59	1	0	0	0	0	1	0	0	0	2842	1000	35	3	1436	3	CCDC7	10	32856778	Missense_Mutation	SNP	G	TCGA-EJ-5510-01A-01D-1576-08	26877543	32856778	102677969	14	3037	19	2									
CCDC7	79741	broad.mit.edu	37	chr10	32856779	32856779	+	Missense_Mutation	SNP	G	G	T																															atcactggtttcagattcagGtggacaaaggacaagtgata																										TCGA-EJ-5510-01A-01D-1576-08	TCGA-EJ-5510-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c55ec8be-cd73-4275-8407-5814a1fc51d5	96d81c6a-b658-42f7-8102-6ff08f9ba464	g.chr10:32856779G>T	ENST00000362006.5	+	16	1922	c.1379G>T	c.(1378-1380)gGt>gTt	p.G460V	C10orf68_ENST00000375028.3_5'UTR|C10orf68_ENST00000572165.1_3'UTR|C10orf68_ENST00000375030.2_5'UTR|CCDC7_ENST00000277657.6_Missense_Mutation_p.G460V	NM_145023.4	NP_659460.3	Q96M83	CCDC7_HUMAN	coiled-coil domain containing 7	460								p.G460V(1)		NS(1)|breast(2)|cervix(1)|endometrium(1)|large_intestine(3)|lung(4)|prostate(2)	14		Breast(68;0.000207)|Prostate(175;0.0107)				TCAGATTCAGGTGGACAAAGG	0.328																																						ENST00000362006.5																			1	Substitution - Missense(1)	p.G460V(1)	prostate(1)	NS(1)|breast(2)|cervix(1)|endometrium(1)|large_intestine(3)|lung(4)|prostate(2)	14						c.(1378-1380)gGt>gTt		coiled-coil domain containing 7							77	77	77					10																	32856779		2203	4300	6503	SO:0001583	missense	221016							g.chr10:32856779G>T	BC022020	CCDS7173.1	10p11.23	2013-12-13			ENSG00000216937	ENSG00000216937			26533	protein-coding gene	gene with protein product			"chromosome 10 open reading frame 68"	C10orf68		12477932	Standard	NM_024688		Approved	FLJ32762, FLJ13031	uc001iwk.3	Q96M83	OTTHUMG00000150517	ENST00000362006.5:c.1379G>T	10.37:g.32856779G>T	ENSP00000355078:p.Gly460Val					C10orf68_ENST00000375028.3_5'UTR|C10orf68_ENST00000375030.2_5'UTR|C10orf68_ENST00000572165.1_3'UTR|CCDC7_ENST00000277657.6_Missense_Mutation_p.G460V	p.G460V	NM_145023.4	NP_659460.3	Q96M83	CCDC7_HUMAN			16	1922	+		Breast(68;0.000207)|Prostate(175;0.0107)	460					Q5VW55|Q8IVQ0|Q8NEQ0	Missense_Mutation	SNP	ENST00000362006.5	37	c.1379G>T	CCDS7173.1	.	.	.	.	.	.	.	.	.	.	G	15.21	2.766010	0.49574	.	.	ENSG00000216937	ENST00000277657;ENST00000362006;ENST00000435402	T;T;T	0.60548	1.09;1.09;0.18	4.69	-3.39	0.04868	.	.	.	.	.	T	0.44787	0.1310	N	0.24115	0.695	0.09310	N	0.999999	D	0.54047	0.964	P	0.50109	0.631	T	0.41645	-0.9497	9	0.62326	D	0.03	-4.4983	5.2609	0.15573	0.48:0.2875:0.2325:0.0	.	460	Q96M83	CCDC7_HUMAN	V	460;460;129	ENSP00000277657:G460V;ENSP00000355078:G460V;ENSP00000401923:G129V	ENSP00000277657:G460V	G	+	2	0	CCDC7	32896785	0.000000	0.05858	0.001000	0.08648	0.240000	0.25518	-0.606000	0.05654	-0.568000	0.06038	-0.182000	0.12963	GGT		0.328	CCDC7-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047490.1	NM_145023		9	89	1	0	4.36969e-10	1	4.69742e-10	9	89					T	32856779	G	T	32856779	3	4	59	1	0	0	0	0	1	0	0	0	2842	1261	44	5	1437	5	CCDC7	10	32856779	Missense_Mutation	SNP	G	TCGA-EJ-5510-01A-01D-1576-08	1	32856779	102677968	15	3038	19	2									
ADRA2A	150	broad.mit.edu	37	chr10	112838922	112838922	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgagaagcgcttcacgttcGtgctggccgtggtcatcgga	6	9	15	11	6	2	1	2	0	0	1	4	3	2	2	1	3	2	3	1	3	1	2	rs375454021		TCGA-EJ-5510-01A-01D-1576-08	TCGA-EJ-5510-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c55ec8be-cd73-4275-8407-5814a1fc51d5	96d81c6a-b658-42f7-8102-6ff08f9ba464	g.chr10:112838922G>T	ENST00000280155.2	+	1	2133	c.1168G>T	c.(1168-1170)Gtg>Ttg	p.V390L		NM_000681.3	NP_000672.3	P08913	ADA2A_HUMAN	adrenoceptor alpha 2A	375					actin cytoskeleton organization (GO:0030036)|activation of MAPK activity by adrenergic receptor signaling pathway (GO:0071883)|activation of protein kinase activity (GO:0032147)|activation of protein kinase B activity (GO:0032148)|acute inflammatory response (GO:0002526)|adenylate cyclase-inhibiting adrenergic receptor signaling pathway (GO:0071881)|blood coagulation (GO:0007596)|cellular component movement (GO:0006928)|cellular response to hormone stimulus (GO:0032870)|DNA replication (GO:0006260)|energy reserve metabolic process (GO:0006112)|epidermal growth factor-activated receptor transactivation by G-protein coupled receptor signaling pathway (GO:0035625)|fear response (GO:0042596)|female pregnancy (GO:0007565)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|intestinal absorption (GO:0050892)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of adrenergic receptor signaling pathway (GO:0071878)|negative regulation of calcium ion transmembrane transporter activity (GO:1901020)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of cAMP biosynthetic process (GO:0030818)|negative regulation of epinephrine secretion (GO:0032811)|negative regulation of insulin secretion (GO:0046676)|negative regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061179)|negative regulation of lipid catabolic process (GO:0050995)|negative regulation of norepinephrine secretion (GO:0010700)|negative regulation of uterine smooth muscle contraction (GO:0070473)|phospholipase C-activating adrenergic receptor signaling pathway (GO:0071882)|platelet activation (GO:0030168)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokine production (GO:0001819)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|positive regulation of potassium ion transport (GO:0043268)|positive regulation of vasodilation (GO:0045909)|positive regulation of wound healing (GO:0090303)|Ras protein signal transduction (GO:0007265)|regulation of insulin secretion (GO:0050796)|regulation of vasoconstriction (GO:0019229)|Rho protein signal transduction (GO:0007266)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|thermoception (GO:0050955)	basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|synapse (GO:0045202)	alpha-1B adrenergic receptor binding (GO:0031692)|alpha-2C adrenergic receptor binding (GO:0031696)|alpha2-adrenergic receptor activity (GO:0004938)|epinephrine binding (GO:0051379)|heterotrimeric G-protein binding (GO:0032795)|norepinephrine binding (GO:0051380)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|thioesterase binding (GO:0031996)	p.V375L(1)		breast(1)|cervix(3)|endometrium(6)|large_intestine(3)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Breast(234;0.0735)|Lung NSC(174;0.238)		Epithelial(162;0.000316)|all cancers(201;0.00501)|BRCA - Breast invasive adenocarcinoma(275;0.118)	Amitriptyline(DB00321)|Amoxapine(DB00543)|Amphetamine(DB00182)|Apomorphine(DB00714)|Apraclonidine(DB00964)|Aripiprazole(DB01238)|Asenapine(DB06216)|Benzphetamine(DB00865)|Bethanidine(DB00217)|Brimonidine(DB00484)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Clonidine(DB00575)|Clozapine(DB00363)|Desipramine(DB01151)|Dexmedetomidine(DB00633)|Dihydroergotamine(DB00320)|Dipivefrin(DB00449)|Doxepin(DB01142)|Dronedarone(DB04855)|Droxidopa(DB06262)|Ephedra(DB01363)|Epinastine(DB00751)|Epinephrine(DB00668)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Flupirtine(DB06623)|Guanabenz(DB00629)|Guanfacine(DB01018)|Lisuride(DB00589)|Lofexidine(DB04948)|Loxapine(DB00408)|Lurasidone(DB08815)|Maprotiline(DB00934)|Mephentermine(DB01365)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Methyldopa(DB00968)|Mianserin(DB06148)|Mirtazapine(DB00370)|Naphazoline(DB06711)|Nefazodone(DB01149)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxymetazoline(DB00935)|Paliperidone(DB01267)|Pergolide(DB01186)|Phenoxybenzamine(DB00925)|Phentolamine(DB00692)|Phenylpropanolamine(DB00397)|Pramipexole(DB00413)|Prazosin(DB00457)|Propericiazine(DB01608)|Pseudoephedrine(DB00852)|Quetiapine(DB01224)|Risperidone(DB00734)|Ropinirole(DB00268)|Tizanidine(DB00697)|Tolazoline(DB00797)|Trazodone(DB00656)|Trimipramine(DB00726)|Xylometazoline(DB06694)|Yohimbine(DB01392)|Ziprasidone(DB00246)	CTTCACGTTCGTGCTGGCCGT	0.697																																					Esophageal Squamous(173;605 2658 7278 49362)	ENST00000280155.2																			1	Substitution - Missense(1)	p.V375L(1)	prostate(1)	breast(1)|cervix(3)|endometrium(6)|large_intestine(3)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(1168-1170)Gtg>Ttg		adrenoceptor alpha 2A	Amitriptyline(DB00321)|Amphetamine(DB00182)|Apraclonidine(DB00964)|Benzphetamine(DB00865)|Bethanidine(DB00217)|Brimonidine(DB00484)|Clonidine(DB00575)|Debrisoquin(DB04840)|Dexmedetomidine(DB00633)|Dipivefrin(DB00449)|Epinastine(DB00751)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Guanabenz(DB00629)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Guanfacine(DB01018)|Lofexidine(DB04948)|Methyldopa(DB00968)|Mianserin(DB06148)|Mirtazapine(DB00370)|Norepinephrine(DB00368)|Oxymetazoline(DB00935)|Phentolamine(DB00692)|Phenylpropanolamine(DB00397)|Pseudoephedrine(DB00852)|Tizanidine(DB00697)|Trazodone(DB00656)|Yohimbine(DB01392)						121	98	106					10																	112838922		2203	4300	6503	SO:0001583	missense	150				actin cytoskeleton organization|activation of MAPK activity by adrenergic receptor signaling pathway|activation of phospholipase C activity by adrenergic receptor signaling pathway|activation of protein kinase B activity|blood coagulation|cellular component movement|cellular response to hormone stimulus|energy reserve metabolic process|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|glucose homeostasis|inhibition of adenylate cyclase activity by adrenergic receptor signaling pathway|intestinal absorption|negative regulation of adrenergic receptor signaling pathway|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of cAMP biosynthetic process|negative regulation of epinephrine secretion|negative regulation of insulin secretion involved in cellular response to glucose stimulus|negative regulation of lipid catabolic process|negative regulation of norepinephrine secretion|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of cytokine production|positive regulation of membrane protein ectodomain proteolysis|positive regulation of potassium ion transport|positive regulation of wound healing|Rho protein signal transduction	basolateral plasma membrane|cytoplasm|integral to plasma membrane|receptor complex	alpha-1B adrenergic receptor binding|alpha-2C adrenergic receptor binding|alpha2-adrenergic receptor activity|epinephrine binding|heterotrimeric G-protein binding|norepinephrine binding|protein heterodimerization activity|protein homodimerization activity|protein kinase binding|thioesterase binding	g.chr10:112838922G>T	AF284095	CCDS7569.2	10q25.2	2012-08-08	2012-05-09		ENSG00000150594	ENSG00000150594		"GPCR / Class A : Adrenoceptors : alpha"	281	protein-coding gene	gene with protein product	"alpha-2AAR subtype C10", " alpha-2A-adrenergic receptor"	104210	"adrenergic, alpha-2A-, receptor"	ADRA2, ADRA2R			Standard	NM_000681		Approved	ADRAR	uc001kzo.3	P08913	OTTHUMG00000019050	ENST00000280155.2:c.1168G>T	10.37:g.112838922G>T	ENSP00000280155:p.Val390Leu						p.V390L	NM_000681.3	NP_000672.3	P08913	ADA2A_HUMAN		Epithelial(162;0.000316)|all cancers(201;0.00501)|BRCA - Breast invasive adenocarcinoma(275;0.118)	1	2133	+		Breast(234;0.0735)|Lung NSC(174;0.238)	375					B0LPF6|Q2I8G2|Q2XN99|Q86TH8|Q9BZK1	Missense_Mutation	SNP	ENST00000280155.2	37	c.1168G>T	CCDS7569.2	.	.	.	.	.	.	.	.	.	.	G	26.5	4.748194	0.89663	.	.	ENSG00000150594	ENST00000280155	T	0.35048	1.33	3.37	3.37	0.38596	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	U	0.000001	T	0.64940	0.2644	M	0.88241	2.94	0.58432	D	0.999998	D	0.89917	1.0	D	0.85130	0.997	T	0.73981	-0.3811	10	0.56958	D	0.05	.	15.2452	0.73502	0.0:0.0:1.0:0.0	.	375	P08913	ADA2A_HUMAN	L	390	ENSP00000280155:V390L	ENSP00000280155:V390L	V	+	1	0	ADRA2A	112828912	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.133000	0.94460	1.839000	0.53478	0.462000	0.41574	GTG		0.697	ADRA2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050372.2	NM_000681		20	51	1	0	9.95505e-16	1	1.12649e-15	20	51					T	112838922	G	T	112838922	3	4	59	1	0	0	0	0	1	0	0	0	337	1145	40	5	1170	5	ADRA2A	10	112838922	Missense_Mutation	SNP	G	TCGA-EJ-5510-01A-01D-1576-08	79982143	112838922	22695825	16	3039											
API5	8539	broad.mit.edu	37	chr11	43345105	43345105	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtggctgaacaggccgacctAgaacagaccttcaatccctc	11	7	9	14	1	1	3	1	1	0	2	3	4	2	3	4	2	2	1	4	2	4	2			TCGA-EJ-5510-01A-01D-1576-08	TCGA-EJ-5510-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c55ec8be-cd73-4275-8407-5814a1fc51d5	96d81c6a-b658-42f7-8102-6ff08f9ba464	g.chr11:43345105A>C	ENST00000531273.1	+	6	808	c.669A>C	c.(667-669)ctA>ctC	p.L223L	API5_ENST00000455725.2_Silent_p.L212L|API5_ENST00000534695.1_Intron|API5_ENST00000378852.3_Silent_p.L223L|API5_ENST00000534600.1_Silent_p.L223L|API5_ENST00000420461.2_Silent_p.L169L			Q9BZZ5	API5_HUMAN	apoptosis inhibitor 5	223	ARM-like and Heat-like helical repeats.				apoptotic process (GO:0006915)|negative regulation of apoptotic process (GO:0043066)|negative regulation of fibroblast apoptotic process (GO:2000270)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	fibroblast growth factor binding (GO:0017134)|poly(A) RNA binding (GO:0044822)	p.L223L(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(2)|urinary_tract(1)	20						AGGCCGACCTAGAACAGACCT	0.463																																					Pancreas(1;98 122 5625 20895 49453)	ENST00000378852.3																			1	Substitution - coding silent(1)	p.L223L(1)	prostate(1)	breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(2)|urinary_tract(1)	20						c.(667-669)ctA>ctC		apoptosis inhibitor 5							138	132	134					11																	43345105		2203	4300	6503	SO:0001819	synonymous_variant	8539				anti-apoptosis|apoptosis	cytoplasm|spliceosomal complex	fibroblast growth factor binding	g.chr11:43345105A>C	U83857	CCDS31465.1, CCDS44572.1, CCDS44573.1	11p12	2010-09-30			ENSG00000166181	ENSG00000166181			594	protein-coding gene	gene with protein product	"API5-like 1", "fibroblast growth factor 2-interacting factor 2", "migration-inducing protein MIG8"	609774				9307294	Standard	NR_024625		Approved	AAC-11, API5L1, AAC11	uc010rfh.1	Q9BZZ5	OTTHUMG00000166395	ENST00000531273.1:c.669A>C	11.37:g.43345105A>C						API5_ENST00000534695.1_Intron|API5_ENST00000420461.2_Silent_p.L169L|API5_ENST00000455725.2_Silent_p.L212L|API5_ENST00000534600.1_Silent_p.L223L|API5_ENST00000531273.1_Silent_p.L223L	p.L223L	NM_001142930.1|NM_006595.3	NP_001136402.1|NP_006586.1	Q9BZZ5	API5_HUMAN			6	794	+			223					B4DGR0|B4DRJ2|D3DR21|O15441|Q9Y4J7	Silent	SNP	ENST00000531273.1	37	c.669A>C	CCDS44572.1																																																																																				0.463	API5-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389545.1	NM_006595		34	158	0	0	0	1	0	34	158					C	43345105	A	C	43345105	2	2	59	1	0	0	0	0	0	0	0	1	773	407	15	5		5	API5	11	43345105	Silent	SNP	A	TCGA-EJ-5510-01A-01D-1576-08		43345105	91661411	17	3040											
SHANK2	22941	broad.mit.edu	37	chr11	70319095	70319095	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agtgactgccatcgatctcaTtgtccatgaaggcctcttta	9	13	8	11	1	2	2	1	2	2	0	5	3	3	2	3	1	1	0	3	1	2	3			TCGA-EJ-5510-01A-01D-1576-08	TCGA-EJ-5510-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c55ec8be-cd73-4275-8407-5814a1fc51d5	96d81c6a-b658-42f7-8102-6ff08f9ba464	g.chr11:70319095T>C	ENST00000423696.2	-	16	4328	c.4292A>G	c.(4291-4293)aAt>aGt	p.N1431S	SHANK2_ENST00000338508.4_Missense_Mutation_p.N1811S|SHANK2_ENST00000449833.2_Missense_Mutation_p.N1215S|SHANK2_ENST00000409161.1_Missense_Mutation_p.N1214S			Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2	1431	SAM. {ECO:0000255|PROSITE- ProRule:PRU00184}.				adult behavior (GO:0030534)|learning (GO:0007612)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|vocalization behavior (GO:0071625)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|cell junction (GO:0030054)|ciliary membrane (GO:0060170)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|growth cone (GO:0030426)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	GKAP/Homer scaffold activity (GO:0030160)|ionotropic glutamate receptor binding (GO:0035255)	p.N1811S(1)|p.N1215S(1)		NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			ATCGATCTCATTGTCCATGAA	0.478																																						ENST00000338508.4																			2	Substitution - Missense(2)	p.N1811S(1)|p.N1215S(1)	prostate(2)	NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62						c.(5431-5433)aAt>aGt		SH3 and multiple ankyrin repeat domains 2							189	181	183					11																	70319095		2200	4294	6494	SO:0001583	missense	22941				intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding	g.chr11:70319095T>C	AF141901		11q13.2	2013-01-10			ENSG00000162105	ENSG00000162105		"Sterile alpha motif (SAM) domain containing", "Ankyrin repeat domain containing"	14295	protein-coding gene	gene with protein product		603290	"cortactin binding protein 1"	CORTBP1		10506216	Standard	XM_005277930		Approved	CTTNBP1, ProSAP1, SHANK, SPANK-3	uc001oqc.3	Q9UPX8	OTTHUMG00000154615	ENST00000423696.2:c.4292A>G	11.37:g.70319095T>C	ENSP00000394536:p.Asn1431Ser					SHANK2_ENST00000409161.1_Missense_Mutation_p.N1214S|SHANK2_ENST00000423696.2_Missense_Mutation_p.N1431S|SHANK2_ENST00000449833.2_Missense_Mutation_p.N1215S	p.N1811S			Q9UPX8	SHAN2_HUMAN	LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)		33	5431	-			1431					C0SPG8|C0SPG9|Q3Y8G9|Q52LK2|Q9UKP1	Missense_Mutation	SNP	ENST00000423696.2	37	c.5432A>G		.	.	.	.	.	.	.	.	.	.	T	25.5	4.648919	0.87958	.	.	ENSG00000162105	ENST00000449833;ENST00000409161;ENST00000424924;ENST00000338508;ENST00000423696;ENST00000433693;ENST00000294018	T;T;T;T;T;T	0.50277	0.75;0.75;0.75;0.75;0.75;0.75	6.03	6.03	0.97812	Sterile alpha motif domain (2);Sterile alpha motif/pointed domain (2);Sterile alpha motif, type 1 (1);	0.083787	0.85682	N	0.000000	T	0.68183	0.2973	M	0.67397	2.05	0.80722	D	1	D;D;D	0.89917	1.0;0.999;0.999	D;D;D	0.91635	0.999;0.994;0.997	T	0.70612	-0.4824	10	0.72032	D	0.01	.	16.5582	0.84512	0.0:0.0:0.0:1.0	.	1431;1810;1215	Q9UPX8;Q9UPX8-3;Q9UPX8-4	SHAN2_HUMAN;.;.	S	1215;1214;1089;1811;1431;1449;1434	ENSP00000399423:N1215S;ENSP00000386491:N1214S;ENSP00000402944:N1089S;ENSP00000345193:N1811S;ENSP00000394536:N1431S;ENSP00000294018:N1434S	ENSP00000294018:N1434S	N	-	2	0	SHANK2	69996743	1.000000	0.71417	0.996000	0.52242	0.998000	0.95712	7.807000	0.86032	2.308000	0.77769	0.533000	0.62120	AAT		0.478	SHANK2-203	KNOWN	basic	protein_coding	protein_coding		NM_012309		55	245	0	0	0	1	0	55	245					C	70319095	T	C	70319095	3	2	59	1	0	0	0	0	1	0	0	0	14265	1493	52	4	124	4	SHANK2	11	70319095	Missense_Mutation	SNP	T	TCGA-EJ-5510-01A-01D-1576-08	26973990	70319095	64687421	18	3041											
CARD16	114769	broad.mit.edu	37	chr11	104915235	104915235	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agtcaatcaaagctcgggtcTtatccataactgtagcattt	12	13	7	9	1	3	0	2	0	1	0	5	0	4	0	1	1	3	3	1	1	5	4			TCGA-EJ-5510-01A-01D-1576-08	TCGA-EJ-5510-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c55ec8be-cd73-4275-8407-5814a1fc51d5	96d81c6a-b658-42f7-8102-6ff08f9ba464	g.chr11:104915235T>G	ENST00000375706.2	-	2	175	c.158A>C	c.(157-159)aAg>aCg	p.K53T	CASP1_ENST00000594519.1_Intron|CARD16_ENST00000525374.1_Missense_Mutation_p.K53T|CASP1_ENST00000415981.2_Intron|CARD16_ENST00000375704.3_Missense_Mutation_p.K53T|CASP1_ENST00000593315.1_Intron|CASP1_ENST00000598974.1_Intron	NM_001017534.1	NP_001017534.1	Q5EG05	CAR16_HUMAN	caspase recruitment domain family, member 16	53	CARD. {ECO:0000255|PROSITE- ProRule:PRU00046}.				regulation of apoptotic process (GO:0042981)		cysteine-type endopeptidase inhibitor activity (GO:0004869)	p.K53T(1)		endometrium(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	11						AGCTCGGGTCTTATCCATAAC	0.428																																						ENST00000375706.2																			1	Substitution - Missense(1)	p.K53T(1)	prostate(1)	endometrium(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	11						c.(157-159)aAg>aCg		caspase recruitment domain family, member 16							227	209	215					11																	104915235		2202	4297	6499	SO:0001583	missense	114769							g.chr11:104915235T>G		CCDS31661.1, CCDS41705.1	11q23	2008-09-15				ENSG00000204397			33701	protein-coding gene	gene with protein product		615680				11432859, 11536016	Standard	NM_052889		Approved	COP1, COP, PSEUDO-ICE		Q5EG05		ENST00000375706.2:c.158A>C	11.37:g.104915235T>G	ENSP00000364858:p.Lys53Thr					CARD16_ENST00000525374.1_Missense_Mutation_p.K53T|CARD16_ENST00000375704.3_Missense_Mutation_p.K53T|CASP1_ENST00000598974.1_Intron|CASP1_ENST00000594519.1_Intron|CASP1_ENST00000593315.1_Intron|CASP1_ENST00000415981.2_Intron	p.K53T	NM_001017534.1	NP_001017534.1					2	175	-								Q96RJ9	Missense_Mutation	SNP	ENST00000375706.2	37	c.158A>C	CCDS31661.1	.	.	.	.	.	.	.	.	.	.	.	13.88	2.367899	0.42003	.	.	ENSG00000204397	ENST00000375706;ENST00000375704;ENST00000525374;ENST00000528513	T;T;T;T	0.54279	1.97;1.97;1.97;0.58	3.34	0.76	0.18442	DEATH-like (2);Caspase Recruitment (3);	0.540327	0.20413	U	0.092822	T	0.68366	0.2993	M	0.88310	2.945	0.09310	N	1	D;D	0.76494	0.999;0.995	D;D	0.74348	0.983;0.951	T	0.58014	-0.7711	10	0.72032	D	0.01	.	2.5546	0.04756	0.2313:0.1353:0.0:0.6334	.	53;53	Q5EG05;Q5EG05-2	CAR16_HUMAN;.	T	53;53;53;37	ENSP00000364858:K53T;ENSP00000364856:K53T;ENSP00000433700:K53T;ENSP00000432485:K37T	ENSP00000364856:K53T	K	-	2	0	CARD16	104420445	0.083000	0.21467	0.109000	0.21407	0.072000	0.16883	0.661000	0.25023	0.027000	0.15297	0.397000	0.26171	AAG		0.428	CARD16-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000388147.1			96	447	0	0	0	1	0	96	447					G	104915235	T	G	104915235	3	3	59	1	0	0	0	0	1	0	0	0	2647	1609	56	5	467	5	CARD16	11	104915235	Missense_Mutation	SNP	T	TCGA-EJ-5510-01A-01D-1576-08	34596140	104915235	30091281	19	3042											
ADAMTS20	80070	broad.mit.edu	37	chr12	43777766	43777766	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctgctgaactccagagccAcaggtcacagagcactacaa	13	6	8	14	0	2	3	1	1	1	2	3	3	3	3	2	1	5	2	2	1	3	1			TCGA-EJ-5510-01A-01D-1576-08	TCGA-EJ-5510-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c55ec8be-cd73-4275-8407-5814a1fc51d5	96d81c6a-b658-42f7-8102-6ff08f9ba464	g.chr12:43777766A>G	ENST00000389420.3	-	30	4466	c.4467T>C	c.(4465-4467)tgT>tgC	p.C1489C		NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	1489	TSP type-1 12. {ECO:0000255|PROSITE- ProRule:PRU00210}.				extracellular matrix organization (GO:0030198)|negative regulation of apoptotic process (GO:0043066)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of signal transduction (GO:0009967)	extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.C1489C(2)|p.S1489S(1)		breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		CTCCAGAGCCACAGGTCACAG	0.413																																						ENST00000389420.3																			3	Substitution - coding silent(3)	p.C1489C(2)|p.S1489S(1)	prostate(3)	breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						c.(4465-4467)tgT>tgC		ADAM metallopeptidase with thrombospondin type 1 motif, 20							69	59	62					12																	43777766		2203	4300	6503	SO:0001819	synonymous_variant	80070					proteinaceous extracellular matrix	zinc ion binding	g.chr12:43777766A>G	AF488804	CCDS31778.2	12q12	2005-08-19	2005-08-19			ENSG00000173157		"ADAM metallopeptidases with thrombospondin type 1 motif"	17178	protein-coding gene	gene with protein product		611681	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 20"			12514189, 12562771	Standard	NM_025003		Approved	GON-1	uc010skx.2	P59510		ENST00000389420.3:c.4467T>C	12.37:g.43777766A>G							p.C1489C	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN		GBM - Glioblastoma multiforme(48;0.0473)	30	4466	-	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)	1489			TSP type-1 12.		A6NNC9|J3QT00	Silent	SNP	ENST00000389420.3	37	c.4467T>C	CCDS31778.2																																																																																				0.413	ADAMTS20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403643.1	NM_025003		4	56	0	0	0	1	0	4	56					G	43777766	A	G	43777766	2	3	59	1	0	0	0	0	0	0	0	1	266	157	6	4		4	ADAMTS20	12	43777766	Silent	SNP	A	TCGA-EJ-5510-01A-01D-1576-08		43777766	90074129	20	3043											
KRT78	196374	broad.mit.edu	37	chr12	53238473	53238473	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatggacagcaccacagacGtgtcgctggcctgggtctgg	7	7	14	13	2	1	1	0	0	1	1	2	2	1	2	3	4	1	2	3	4	0	0			TCGA-EJ-5510-01A-01D-1576-08	TCGA-EJ-5510-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c55ec8be-cd73-4275-8407-5814a1fc51d5	96d81c6a-b658-42f7-8102-6ff08f9ba464	g.chr12:53238473G>A	ENST00000304620.4	-	5	854	c.791C>T	c.(790-792)aCg>aTg	p.T264M	KRT78_ENST00000359499.4_Missense_Mutation_p.T154M	NM_173352.2	NP_775487.2	Q8N1N4	K2C78_HUMAN	keratin 78	264	Linker 12.|Rod.					extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)	p.T264M(2)		endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	18						CACCACAGACGTGTCGCTGGC	0.622																																						ENST00000359499.4																			2	Substitution - Missense(2)	p.T264M(2)	prostate(2)	endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	18						c.(460-462)aCg>aTg		keratin 78							78	65	70					12																	53238473		2203	4300	6503	SO:0001583	missense	196374					keratin filament	protein binding|structural molecule activity	g.chr12:53238473G>A	AK096419	CCDS8840.1, CCDS73473.1	12q13.13	2013-06-25			ENSG00000170423	ENSG00000170423		"-", "Intermediate filaments type II, keratins (basic)"	28926	protein-coding gene	gene with protein product		611159				16831889	Standard	XM_005268695		Approved	K5B	uc001sbc.1	Q8N1N4	OTTHUMG00000169880	ENST00000304620.4:c.791C>T	12.37:g.53238473G>A	ENSP00000306261:p.Thr264Met					KRT78_ENST00000304620.4_Missense_Mutation_p.T264M	p.T154M			Q8N1N4	K2C78_HUMAN			5	472	-			264			Linker 1.|Rod.		A8K4D6|Q5HYM7|Q7RTT2	Missense_Mutation	SNP	ENST00000304620.4	37	c.461C>T	CCDS8840.1	.	.	.	.	.	.	.	.	.	.	G	14.33	2.504042	0.44558	.	.	ENSG00000170423	ENST00000359499;ENST00000304620;ENST00000539860;ENST00000547110	D;D;D	0.89415	-2.31;-2.31;-2.51	5.28	-0.819	0.10829	Filament (1);	0.783752	0.10428	N	0.675841	D	0.84880	0.5570	L	0.60957	1.885	0.09310	N	1	B	0.27286	0.174	B	0.20955	0.032	T	0.71803	-0.4482	10	0.51188	T	0.08	.	10.5453	0.45056	0.4971:0.0:0.5029:0.0	.	264	Q8N1N4	K2C78_HUMAN	M	154;264;35;35	ENSP00000352479:T154M;ENSP00000306261:T264M;ENSP00000447817:T35M	ENSP00000306261:T264M	T	-	2	0	KRT78	51524740	0.038000	0.19896	0.001000	0.08648	0.008000	0.06430	0.346000	0.19997	-0.385000	0.07833	0.563000	0.77884	ACG		0.622	KRT78-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406380.1	NM_173352		15	77	0	0	0	1	0	15	77					A	53238473	G	A	53238473	3	1	59	1	0	0	0	0	1	0	0	0	8491	1145	40	1	791	1	KRT78	12	53238473	Missense_Mutation	SNP	G	TCGA-EJ-5510-01A-01D-1576-08	9460707	53238473	80613422	21	3044											
PTPRB	5787	broad.mit.edu	37	chr12	71003062	71003063	+	Frame_Shift_Ins	INS	-	-	G																															tggatagacacagaatggctINSggaggccttggactccgcca																										TCGA-EJ-5510-01A-01D-1576-08	TCGA-EJ-5510-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c55ec8be-cd73-4275-8407-5814a1fc51d5	96d81c6a-b658-42f7-8102-6ff08f9ba464	g.chr12:71003062_71003063insG	ENST00000261266.5	-	2	140_141	c.111_112insC	c.(109-114)tccagcfs	p.S38fs	PTPRB_ENST00000550857.1_Frame_Shift_Ins_p.S38fs|PTPRB_ENST00000451516.2_Frame_Shift_Ins_p.S38fs|PTPRB_ENST00000334414.6_Frame_Shift_Ins_p.S256fs|PTPRB_ENST00000538708.1_Frame_Shift_Ins_p.S38fs|PTPRB_ENST00000550358.1_Frame_Shift_Ins_p.S256fs|PTPRB_ENST00000551525.1_Frame_Shift_Ins_p.S255fs|PTPRB_ENST00000538174.2_5'UTR	NM_002837.4	NP_002828.3	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	38	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				angiogenesis (GO:0001525)|dephosphorylation (GO:0016311)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|protein dephosphorylation (GO:0006470)	integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			ACAGAATGGCTGGAGGCCTTGG	0.535																																						ENST00000334414.6																			0				breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107						c.(763-768)tcgccafs		protein tyrosine phosphatase, receptor type, B			,,,	12,3644		1,10,1817					,,,	4.9	1			60	19,7853		0,19,3917	no	frameshift,frameshift,frameshift,frameshift	PTPRB	NM_002837.4,NM_001206972.1,NM_001206971.1,NM_001109754.2	,,,	1,29,5734	A1A1,A1R,RR		0.2414,0.3282,0.2689	,,,	,,,		31,11497				SO:0001589	frameshift_variant	0				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr12:71003062_71003063insG	X54131	CCDS44943.1, CCDS44944.1, CCDS55845.1, CCDS55846.1	12q15-q21	2013-02-11						"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Fibronectin type III domain containing"	9665	protein-coding gene	gene with protein product		176882		PTPB		2169617	Standard	NM_001109754		Approved		uc001swc.4	P23467	OTTHUMG00000169499	ENST00000261266.5:c.112dupC	12.37:g.71003064_71003064dupG	ENSP00000261266:p.Ser38fs					PTPRB_ENST00000538708.1_Frame_Shift_Ins_p.P38fs|PTPRB_ENST00000551525.1_Frame_Shift_Ins_p.P255fs|PTPRB_ENST00000261266.5_Frame_Shift_Ins_p.P38fs|PTPRB_ENST00000550358.1_Frame_Shift_Ins_p.P256fs|PTPRB_ENST00000550857.1_Frame_Shift_Ins_p.P38fs|PTPRB_ENST00000451516.2_Frame_Shift_Ins_p.P38fs|PTPRB_ENST00000538174.2_5'UTR	p.P256fs	NM_001109754.2	NP_001103224.1	P23467	PTPRB_HUMAN	GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)		4	809_810	-	Renal(347;0.236)		38			Fibronectin type-III 3.		B7ZKS8|B7ZKT0|C9JX87|F5H3G6|Q14D85|Q3MIV7	Frame_Shift_Ins	INS	ENST00000261266.5	37	c.765_766insC	CCDS44944.1																																																																																				0.535	PTPRB-007	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000404439.1			7	150						7	150	---	---	---	---	G	71003063	-	G	71003062	7	5	59	1	0	1	1	0	0	0	0	0	12796	1580	55	0	6005	0	PTPRB	12	71003062	Frame_Shift_Ins	INS	-	TCGA-EJ-5510-01A-01D-1576-08	17764589	71003062	62848833	22	3045											
CIT	11113	broad.mit.edu	37	chr12	120150460	120150460	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgaatagatacatccccgtcGggaaggcacagctcaaattc	13	8	9	11	2	1	2	1	1	0	1	4	3	2	3	2	2	2	2	2	2	5	3			TCGA-EJ-5510-01A-01D-1576-08	TCGA-EJ-5510-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c55ec8be-cd73-4275-8407-5814a1fc51d5	96d81c6a-b658-42f7-8102-6ff08f9ba464	g.chr12:120150460G>T	ENST00000261833.7	-	35	4546	c.4494C>A	c.(4492-4494)ccC>ccA	p.P1498P	CIT_ENST00000392521.2_Silent_p.P1540P|CIT_ENST00000537607.1_5'UTR|MIR1178_ENST00000408396.1_RNA	NM_007174.2	NP_009105.1	O14578	CTRO_HUMAN	citron rho-interacting serine/threonine kinase	1498	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				cytokinesis (GO:0000910)|dendrite development (GO:0016358)|G2/M transition of mitotic cell cycle (GO:0000086)|generation of neurons (GO:0048699)|Golgi organization (GO:0007030)|intracellular signal transduction (GO:0035556)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic nuclear division (GO:0007067)|mitotic sister chromatid segregation (GO:0000070)|negative regulation of dendrite morphogenesis (GO:0050774)|regulation of actin polymerization or depolymerization (GO:0008064)|spermatogenesis (GO:0007283)	actin cytoskeleton (GO:0015629)|Golgi cisterna (GO:0031985)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|vacuole (GO:0005773)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|PDZ domain binding (GO:0030165)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)	p.P1526P(1)|p.P1498P(1)		breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	86	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)		BRCA - Breast invasive adenocarcinoma(302;0.211)		CATCCCCGTCGGGAAGGCACA	0.547																																						ENST00000392521.2																			2	Substitution - coding silent(2)	p.P1526P(1)|p.P1498P(1)	prostate(2)	breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	86						c.(4618-4620)ccC>ccA		citron (rho-interacting, serine/threonine kinase 21)							71	67	69					12																	120150460		2203	4300	6503	SO:0001819	synonymous_variant	11113				intracellular signal transduction		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding|small GTPase regulator activity	g.chr12:120150460G>T	AB023166	CCDS9192.1, CCDS55891.1	12q24.23	2014-04-23	2014-04-23		ENSG00000122966	ENSG00000122966			1985	protein-coding gene	gene with protein product	"serine/threonine kinase 21"	605629	"citron (rho-interacting, serine/threonine kinase 21)"			9792683	Standard	NM_001206999		Approved	KIAA0949, STK21, CRIK	uc001txj.2	O14578	OTTHUMG00000134325	ENST00000261833.7:c.4494C>A	12.37:g.120150460G>T						CIT_ENST00000537607.1_5'UTR|CIT_ENST00000261833.7_Silent_p.P1498P	p.P1540P	NM_001206999.1	NP_001193928.1	O14578	CTRO_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.211)	36	4675	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)	1498			PH.		Q2M5E1|Q6XUH8|Q86UQ9|Q9UPZ7	Silent	SNP	ENST00000261833.7	37	c.4620C>A	CCDS9192.1	.	.	.	.	.	.	.	.	.	.	G	7.617	0.676070	0.14841	.	.	ENSG00000122966	ENST00000392520	T	0.09723	2.95	5.92	1.52	0.23074	.	0.062043	0.64402	D	0.000004	T	0.12305	0.0299	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.10451	-1.0629	7	0.36615	T	0.2	.	5.0256	0.14383	0.4227:0.0:0.4396:0.1377	.	.	.	.	Q	1111	ENSP00000376305:P1111Q	ENSP00000376305:P1111Q	P	-	2	0	CIT	118634843	0.705000	0.27846	1.000000	0.80357	0.987000	0.75469	-0.071000	0.11505	0.394000	0.25230	-0.137000	0.14449	CCG		0.547	CIT-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000259410.4	NM_007174		4	113	1	0	1	1	1	4	113					T	120150460	G	T	120150460	2	4	59	1	0	0	0	0	0	0	0	1	3438	1103	39	5		5	CIT	12	120150460	Silent	SNP	G	TCGA-EJ-5510-01A-01D-1576-08	49147398	120150460	13701435	23	3046											
RPLP0	6175	broad.mit.edu	37	chr12	120635152	120635152	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaagtgggaaggtgtaatcCgtctccacagacaaggccag	12	6	13	10	1	1	1	0	0	1	1	3	2	2	2	3	3	0	2	3	3	4	1			TCGA-EJ-5510-01A-01D-1576-08	TCGA-EJ-5510-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c55ec8be-cd73-4275-8407-5814a1fc51d5	96d81c6a-b658-42f7-8102-6ff08f9ba464	g.chr12:120635152C>T	ENST00000551150.1	-	6	1080	c.765G>A	c.(763-765)acG>acA	p.T255T	RPLP0_ENST00000392514.4_Silent_p.T255T|RPLP0_ENST00000550296.1_5'Flank|RPLP0_ENST00000552292.1_Silent_p.T45T|RPLP0_ENST00000313104.5_Silent_p.T193T|RPLP0_ENST00000546989.1_Silent_p.T219T|RPLP0_ENST00000228306.4_Silent_p.T255T|GCN1L1_ENST00000300648.6_5'Flank			P05388	RLA0_HUMAN	ribosomal protein, large, P0	255					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|ribosome biogenesis (GO:0042254)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)	p.T255T(2)		breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)	15	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					AGGTGTAATCCGTCTCCACAG	0.507																																						ENST00000551150.1																			2	Substitution - coding silent(2)	p.T255T(2)	prostate(1)|lung(1)	breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)	15						c.(763-765)acG>acA		ribosomal protein, large, P0							95	78	84					12																	120635152		2203	4300	6503	SO:0001819	synonymous_variant	6175				endocrine pancreas development|interspecies interaction between organisms|ribosome biogenesis|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|nucleus	protein binding|RNA binding|structural constituent of ribosome	g.chr12:120635152C>T	AB007187	CCDS9193.1	12q24.2	2011-07-29			ENSG00000089157	ENSG00000089157		"L ribosomal proteins"	10371	protein-coding gene	gene with protein product	"acidic ribosomal phosphoprotein P0"	180510				9582194	Standard	NM_053275		Approved	PRLP0, P0, L10E, RPP0, LP0	uc001txq.3	P05388	OTTHUMG00000169317	ENST00000551150.1:c.765G>A	12.37:g.120635152C>T						RPLP0_ENST00000392514.4_Silent_p.T255T|RPLP0_ENST00000546989.1_Silent_p.T219T|RPLP0_ENST00000552292.1_Silent_p.T45T|RPLP0_ENST00000313104.5_Silent_p.T193T|RPLP0_ENST00000228306.4_Silent_p.T255T	p.T255T			P05388	RLA0_HUMAN			6	1080	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		255					Q3B7A4|Q9BVK4	Silent	SNP	ENST00000551150.1	37	c.765G>A	CCDS9193.1																																																																																				0.507	RPLP0-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403448.3	NM_053275		17	79	0	0	0	1	0	17	79					T	120635152	C	T	120635152	2	4	59	1	0	0	0	0	0	0	0	1	13604	639	23	2		2	RPLP0	12	120635152	Silent	SNP	C	TCGA-EJ-5510-01A-01D-1576-08	484692	120635152	13216743	24	3047											
FREM2	341640	broad.mit.edu	37	chr13	39357242	39357242	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttccccagtccaaatactccGttgaagaagatgttggtgag	11	11	10	9	1	0	4	0	2	0	2	3	4	3	4	4	1	1	2	4	1	4	4	rs548177107		TCGA-EJ-5510-01A-01D-1576-08	TCGA-EJ-5510-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c55ec8be-cd73-4275-8407-5814a1fc51d5	96d81c6a-b658-42f7-8102-6ff08f9ba464	g.chr13:39357242G>A	ENST00000280481.7	+	5	5893	c.5677G>A	c.(5677-5679)Gtt>Att	p.V1893I		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	1893	Calx-beta 2.				cell communication (GO:0007154)|homophilic cell adhesion (GO:0007156)|inner ear development (GO:0048839)|morphogenesis of an epithelium (GO:0002009)	basement membrane (GO:0005604)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.V1893I(1)		NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		CAAATACTCCGTTGAAGAAGA	0.438													A|||	1	0.000199681	0	0	5008	,	,		15518	0.001		0	False		,,,				2504	0					ENST00000280481.7																			1	Substitution - Missense(1)	p.V1893I(1)	prostate(1)	NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148						c.(5677-5679)Gtt>Att		FRAS1 related extracellular matrix protein 2							205	195	198					13																	39357242		2203	4300	6503	SO:0001583	missense	341640				cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr13:39357242G>A	BX538150	CCDS31960.1	13q13.3	2004-12-15			ENSG00000150893	ENSG00000150893			25396	protein-coding gene	gene with protein product		608945				15345741	Standard	NM_207361		Approved	DKFZp686J0811	uc001uwv.3	Q5SZK8	OTTHUMG00000016759	ENST00000280481.7:c.5677G>A	13.37:g.39357242G>A	ENSP00000280481:p.Val1893Ile						p.V1893I	NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)	5	5893	+		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)	1893			Calx-beta 2.		Q4QQG1|Q5H9N8|Q5T6Q1|Q6N057|Q6ZSB4|Q7Z305|Q7Z341	Missense_Mutation	SNP	ENST00000280481.7	37	c.5677G>A	CCDS31960.1	.	.	.	.	.	.	.	.	.	.	A	5.292	0.239314	0.10023	.	.	ENSG00000150893	ENST00000280481	T	0.36699	1.24	5.98	-3.55	0.04639	Na-Ca exchanger/integrin-beta4 (2);	0.362015	0.30920	N	0.008612	T	0.18676	0.0448	N	0.21373	0.66	0.09310	N	1	B	0.09022	0.002	B	0.09377	0.004	T	0.32455	-0.9906	10	0.06757	T	0.87	.	14.9111	0.70758	0.439:0.0:0.561:0.0	.	1893	Q5SZK8	FREM2_HUMAN	I	1893	ENSP00000280481:V1893I	ENSP00000280481:V1893I	V	+	1	0	FREM2	38255242	0.001000	0.12720	0.068000	0.19968	0.823000	0.46562	0.130000	0.15850	-0.977000	0.03537	-0.439000	0.05793	GTT		0.438	FREM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044599.2	NM_207361		58	205	0	0	0	1	0	58	205					A	39357242	G	A	39357242	3	1	59	1	0	0	0	0	1	0	0	0	6045	1145	40	1	5695	1	FREM2	13	39357242	Missense_Mutation	SNP	G	TCGA-EJ-5510-01A-01D-1576-08		39357242	75812636	25	3048											
TM9SF2	9375	broad.mit.edu	37	chr13	100206634	100206634	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gttctacacgaagcccttgcCtggtattatcatgggaggga	9	11	12	9	1	2	0	1	0	1	0	2	3	2	2	2	3	3	2	2	3	4	5			TCGA-EJ-5510-01A-01D-1576-08	TCGA-EJ-5510-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c55ec8be-cd73-4275-8407-5814a1fc51d5	96d81c6a-b658-42f7-8102-6ff08f9ba464	g.chr13:100206634C>T	ENST00000376387.4	+	14	1755	c.1565C>T	c.(1564-1566)cCt>cTt	p.P522L		NM_004800.1	NP_004791.1	Q99805	TM9S2_HUMAN	transmembrane 9 superfamily member 2	522					transport (GO:0006810)	endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)		p.P522L(1)		endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(2)	17	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.218)					AAGCCCTTGCCTGGTATTATC	0.418																																						ENST00000376387.4																			1	Substitution - Missense(1)	p.P522L(1)	prostate(1)	endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(2)	17						c.(1564-1566)cCt>cTt		transmembrane 9 superfamily member 2							152	144	147					13																	100206634		2203	4300	6503	SO:0001583	missense	9375				transport	endosome membrane|integral to plasma membrane		g.chr13:100206634C>T	U81006	CCDS9493.1	13q32.2	2011-03-28			ENSG00000125304	ENSG00000125304			11865	protein-coding gene	gene with protein product		604678				9729438	Standard	NM_004800		Approved	P76	uc001voj.2	Q99805	OTTHUMG00000017272	ENST00000376387.4:c.1565C>T	13.37:g.100206634C>T	ENSP00000365567:p.Pro522Leu						p.P522L	NM_004800.1	NP_004791.1	Q99805	TM9S2_HUMAN			14	1755	+	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.218)		522					A8K399|Q2TAY5	Missense_Mutation	SNP	ENST00000376387.4	37	c.1565C>T	CCDS9493.1	.	.	.	.	.	.	.	.	.	.	C	10.72	1.428830	0.25726	.	.	ENSG00000125304	ENST00000376387	T	0.39406	1.08	5.93	5.08	0.68730	.	0.049086	0.85682	D	0.000000	T	0.40171	0.1106	L	0.58510	1.815	0.80722	D	1	B;B	0.15719	0.014;0.008	B;B	0.16289	0.01;0.015	T	0.31668	-0.9935	10	0.11182	T	0.66	-11.5345	17.1544	0.86787	0.0:0.8737:0.1263:0.0	.	488;522	E9PHW5;Q99805	.;TM9S2_HUMAN	L	522	ENSP00000365567:P522L	ENSP00000365567:P522L	P	+	2	0	TM9SF2	99004635	1.000000	0.71417	0.977000	0.42913	0.985000	0.73830	7.619000	0.83057	1.499000	0.48617	0.655000	0.94253	CCT		0.418	TM9SF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045602.3			43	154	0	0	0	1	0	43	154					T	100206634	C	T	100206634	3	4	59	1	0	0	0	0	1	0	0	0	15975	681	24	3	1619	3	TM9SF2	13	100206634	Missense_Mutation	SNP	C	TCGA-EJ-5510-01A-01D-1576-08	60849392	100206634	14963244	26	3049											
MYO16	23026	broad.mit.edu	37	chr13	109779876	109779876	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtgagcgcctgcctctccgcGgccagggaagcggccaacga	7	4	15	15	5	1	1	0	1	1	0	2	3	1	2	5	3	4	0	5	3	2	0	rs371834027	byFrequency	TCGA-EJ-5510-01A-01D-1576-08	TCGA-EJ-5510-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c55ec8be-cd73-4275-8407-5814a1fc51d5	96d81c6a-b658-42f7-8102-6ff08f9ba464	g.chr13:109779876G>A	ENST00000357550.2	+	30	4004	c.3963G>A	c.(3961-3963)gcG>gcA	p.A1321A	MYO16_ENST00000457511.2_Silent_p.A833A|MYO16_ENST00000356711.2_Silent_p.A1321A	NM_001198950.1	NP_001185879.1			myosin XVI									p.A1321A(1)		NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			GCCTCTCCGCGGCCAGGGAAG	0.687																																						ENST00000356711.2																			1	Substitution - coding silent(1)	p.A1321A(1)	prostate(1)	NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121						c.(3961-3963)gcG>gcA		myosin XVI							18	21	20					13																	109779876		2198	4294	6492	SO:0001819	synonymous_variant	23026				cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle	myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane	actin filament binding|ATP binding|motor activity	g.chr13:109779876G>A		CCDS32008.1, CCDS73598.1	13q33.3	2014-06-12			ENSG00000041515	ENSG00000041515		"Myosins / Myosin superfamily : Class XVI", "Ankyrin repeat domain containing"	29822	protein-coding gene	gene with protein product	"neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 3", "protein phosphatase 1, regulatory subunit 107"	615479				11588169, 17029291, 21946561	Standard	NM_001198950		Approved	MYR8, KIAA0865, Myo16b, NYAP3, PPP1R107	uc001vqt.1	Q9Y6X6	OTTHUMG00000017333	ENST00000357550.2:c.3963G>A	13.37:g.109779876G>A						MYO16_ENST00000457511.2_Silent_p.A833A|MYO16_ENST00000357550.2_Silent_p.A1321A	p.A1321A	NM_015011.1	NP_055826.1	Q9Y6X6	MYO16_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)		31	4089	+	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		1321						Silent	SNP	ENST00000357550.2	37	c.3963G>A	CCDS32008.1																																																																																				0.687	MYO16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045746.1	NM_015011		3	23	0	0	0	1	0	3	23					A	109779876	G	A	109779876	2	1	59	1	0	0	0	0	0	0	0	1	10064	1103	39	2		2	MYO16	13	109779876	Silent	SNP	G	TCGA-EJ-5510-01A-01D-1576-08	9573242	109779876	5390002	27	3050											
GNPNAT1	64841	broad.mit.edu	37	chr14	53245162	53245163	+	Frame_Shift_Del	DEL	AG	AG	-																															gtttcttgcttagcaaagtaAgggttgataataacctgaaa																										TCGA-EJ-5510-01A-01D-1576-08	TCGA-EJ-5510-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c55ec8be-cd73-4275-8407-5814a1fc51d5	96d81c6a-b658-42f7-8102-6ff08f9ba464	g.chr14:53245162_53245163delAG	ENST00000216410.3	-	6	608_609	c.421_422delCT	c.(421-423)cttfs	p.L141fs	RP11-589M4.1_ENST00000555689.1_RNA|GNPNAT1_ENST00000554230.1_Frame_Shift_Del_p.L70fs|RP11-589M4.1_ENST00000555969.1_RNA|GNPNAT1_ENST00000554421.1_5'Flank	NM_198066.3	NP_932332.1	Q96EK6	GNA1_HUMAN	glucosamine-phosphate N-acetyltransferase 1	141	N-acetyltransferase. {ECO:0000255|PROSITE-ProRule:PRU00532}.				cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|glucosamine metabolic process (GO:0006041)|liver development (GO:0001889)|N-acetylglucosamine metabolic process (GO:0006044)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|UDP-N-acetylglucosamine biosynthetic process (GO:0006048)	cytosol (GO:0005829)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|late endosome (GO:0005770)|membrane (GO:0016020)	glucosamine 6-phosphate N-acetyltransferase activity (GO:0004343)|monosaccharide binding (GO:0048029)			liver(1)|lung(1)|prostate(1)|skin(1)	4	Breast(41;0.176)					TAGCAAAGTAAGGGTTGATAAT	0.292																																						ENST00000216410.3																			0				liver(1)|lung(1)|prostate(1)|skin(1)	4						c.(421-423)tfs		glucosamine-phosphate N-acetyltransferase 1																																				SO:0001589	frameshift_variant	0				dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process	cytosol|endosome membrane|Golgi membrane	glucosamine 6-phosphate N-acetyltransferase activity	g.chr14:53245162_53245163delAG	AK001469	CCDS9712.1	14q22.1	2011-11-16			ENSG00000100522	ENSG00000100522	2.3.1.4		19980	protein-coding gene	gene with protein product							Standard	NM_198066		Approved	Gpnat1, FLJ10607	uc001xab.3	Q96EK6	OTTHUMG00000152334	ENST00000216410.3:c.421_422delCT	14.37:g.53245162_53245163delAG	ENSP00000216410:p.Leu141fs					GNPNAT1_ENST00000554230.1_Frame_Shift_Del_p.L70fs	p.L141fs	NM_198066.3	NP_932332.1	Q96EK6	GNA1_HUMAN			6	608_609	-	Breast(41;0.176)		141			N-acetyltransferase.			Frame_Shift_Del	DEL	ENST00000216410.3	37	c.421_422delCT	CCDS9712.1																																																																																				0.292	GNPNAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276898.1			24	130						24	130	---	---	---	---	-	53245163	AG	-	53245162	7	5	59	1	0	1	0	1	0	0	0	0	6544	72	3	0	136	0	GNPNAT1	14	53245162	Frame_Shift_Del	DEL	AG	TCGA-EJ-5510-01A-01D-1576-08		53245162	54104378	28	3051											
HIF1A	3091	broad.mit.edu	37	chr14	62199180	62199180	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gccagaagaacttttaggccGctcaatttatgaatattatc	13	13	7	8	1	1	3	1	1	0	2	2	3	1	3	2	1	1	1	2	1	8	6	rs61755644		TCGA-EJ-5510-01A-01D-1576-08	TCGA-EJ-5510-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c55ec8be-cd73-4275-8407-5814a1fc51d5	96d81c6a-b658-42f7-8102-6ff08f9ba464	g.chr14:62199180G>A	ENST00000337138.4	+	7	1083	c.818G>A	c.(817-819)cGc>cAc	p.R273H	HIF1A_ENST00000394997.1_Missense_Mutation_p.R274H|HIF1A-AS2_ENST00000554254.1_lincRNA|RP11-618G20.1_ENST00000555937.1_RNA|HIF1A_ENST00000557538.1_Missense_Mutation_p.R214H|HIF1A_ENST00000323441.6_Missense_Mutation_p.R273H|HIF1A_ENST00000539097.1_Missense_Mutation_p.R297H	NM_001530.3	NP_001521.1	Q16665	HIF1A_HUMAN	hypoxia inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor)	273	Interaction with TSGA10. {ECO:0000250}.|PAS 2. {ECO:0000255|PROSITE- ProRule:PRU00140}.				angiogenesis (GO:0001525)|axon transport of mitochondrion (GO:0019896)|B-1 B cell homeostasis (GO:0001922)|cardiac ventricle morphogenesis (GO:0003208)|cartilage development (GO:0051216)|cellular iron ion homeostasis (GO:0006879)|cellular response to hypoxia (GO:0071456)|cellular response to interleukin-1 (GO:0071347)|cerebral cortex development (GO:0021987)|collagen metabolic process (GO:0032963)|connective tissue replacement involved in inflammatory response wound healing (GO:0002248)|digestive tract morphogenesis (GO:0048546)|dopaminergic neuron differentiation (GO:0071542)|elastin metabolic process (GO:0051541)|embryonic hemopoiesis (GO:0035162)|embryonic placenta development (GO:0001892)|epithelial cell differentiation involved in mammary gland alveolus development (GO:0061030)|epithelial to mesenchymal transition (GO:0001837)|glucose homeostasis (GO:0042593)|heart looping (GO:0001947)|hemoglobin biosynthetic process (GO:0042541)|intestinal epithelial cell maturation (GO:0060574)|lactate metabolic process (GO:0006089)|lactation (GO:0007595)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|muscle cell cellular homeostasis (GO:0046716)|negative regulation of bone mineralization (GO:0030502)|negative regulation of growth (GO:0045926)|negative regulation of mesenchymal cell apoptotic process (GO:2001054)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903377)|negative regulation of thymocyte apoptotic process (GO:0070244)|negative regulation of TOR signaling (GO:0032007)|neural crest cell migration (GO:0001755)|neural fold elevation formation (GO:0021502)|Notch signaling pathway (GO:0007219)|outflow tract morphogenesis (GO:0003151)|oxygen homeostasis (GO:0032364)|positive regulation of angiogenesis (GO:0045766)|positive regulation of chemokine production (GO:0032722)|positive regulation of chemokine-mediated signaling pathway (GO:0070101)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of glycolytic process (GO:0045821)|positive regulation of hormone biosynthetic process (GO:0046886)|positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0035774)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of receptor biosynthetic process (GO:0010870)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061419)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of gene expression (GO:0010468)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0043619)|regulation of transcription, DNA-templated (GO:0006355)|regulation of transforming growth factor beta2 production (GO:0032909)|response to hypoxia (GO:0001666)|response to muscle activity (GO:0014850)|retina vasculature development in camera-type eye (GO:0061298)|signal transduction (GO:0007165)|vascular endothelial growth factor production (GO:0010573)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|motile cilium (GO:0031514)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|Hsp90 protein binding (GO:0051879)|nuclear hormone receptor binding (GO:0035257)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription factor binding (GO:0008134)|transcription factor binding transcription factor activity (GO:0000989)|ubiquitin protein ligase binding (GO:0031625)			breast(2)|endometrium(8)|kidney(6)|large_intestine(3)|lung(4)	23				OV - Ovarian serous cystadenocarcinoma(108;1.62e-09)|BRCA - Breast invasive adenocarcinoma(234;0.189)	Carvedilol(DB01136)	CTTTTAGGCCGCTCAATTTAT	0.323																																						ENST00000394997.1																			0				breast(2)|endometrium(8)|kidney(6)|large_intestine(3)|lung(4)	23						c.(820-822)cGc>cAc		hypoxia inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor)							139	143	142					14																	62199180		2203	4299	6502	SO:0001583	missense	3091				cellular response to hypoxia|collagen metabolic process|connective tissue replacement involved in inflammatory response wound healing|elastin metabolic process|epithelial to mesenchymal transition|oxygen homeostasis|positive regulation of chemokine production|positive regulation of epithelial cell migration|positive regulation of hormone biosynthetic process|positive regulation of nitric-oxide synthase activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation vascular endothelial growth factor production|regulation of transcription from RNA polymerase II promoter in response to oxidative stress|regulation of transforming growth factor-beta2 production	cytoplasm|nucleolus|transcription factor complex	histone acetyltransferase binding|Hsp90 protein binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|signal transducer activity|transcription factor binding|transcription regulatory region DNA binding	g.chr14:62199180G>A	U22431	CCDS9753.1, CCDS9754.1, CCDS58324.1	14q23.2	2013-05-21	2008-12-02		ENSG00000100644	ENSG00000100644		"Basic helix-loop-helix proteins"	4910	protein-coding gene	gene with protein product		603348				8786149, 9079689	Standard	NM_001530		Approved	MOP1, HIF-1alpha, PASD8, HIF1, bHLHe78	uc001xfq.2	Q16665	OTTHUMG00000140344	ENST00000337138.4:c.818G>A	14.37:g.62199180G>A	ENSP00000338018:p.Arg273His					HIF1A_ENST00000539097.1_Missense_Mutation_p.R297H|HIF1A_ENST00000337138.4_Missense_Mutation_p.R273H|HIF1A_ENST00000557538.1_Missense_Mutation_p.R214H|HIF1A_ENST00000323441.6_Missense_Mutation_p.R273H|HIF1A-AS2_ENST00000554254.1_lincRNA	p.R274H			Q16665	HIF1A_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;1.62e-09)|BRCA - Breast invasive adenocarcinoma(234;0.189)	7	1086	+			273			Interaction with TSGA10 (By similarity).|PAS 2.		C0LZJ3|Q53XP6|Q96PT9|Q9UPB1	Missense_Mutation	SNP	ENST00000337138.4	37	c.821G>A	CCDS9753.1	.	.	.	.	.	.	.	.	.	.	G	19.31	3.802653	0.70682	.	.	ENSG00000100644	ENST00000539494;ENST00000394988;ENST00000337138;ENST00000394997;ENST00000323441;ENST00000557538;ENST00000539097	T;T;T;T;T	0.30714	1.52;1.52;1.52;1.52;1.52	5.57	4.68	0.58851	PAS fold-3 (1);PAS (3);	0.000000	0.85682	D	0.000000	T	0.34919	0.0914	L	0.58969	1.84	0.80722	D	1	P;P;P	0.51449	0.809;0.945;0.945	B;B;B	0.43754	0.236;0.43;0.43	T	0.27054	-1.0085	10	0.66056	D	0.02	.	14.4042	0.67071	0.0711:0.0:0.9289:0.0	rs61755644	274;273;273	A8MYV6;D0VY79;Q16665	.;.;HIF1A_HUMAN	H	24;214;273;274;273;214;297	ENSP00000338018:R273H;ENSP00000378446:R274H;ENSP00000323326:R273H;ENSP00000451696:R214H;ENSP00000437955:R297H	ENSP00000323326:R273H	R	+	2	0	HIF1A	61268933	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	6.640000	0.74319	1.348000	0.45733	0.650000	0.86243	CGC		0.323	HIF1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000276977.2	NM_001530		5	334	0	0	0	1	0	5	334					A	62199180	G	A	62199180	3	1	59	1	0	0	0	0	1	0	0	0	7103	1087	38	1	844	1	HIF1A	14	62199180	Missense_Mutation	SNP	G	TCGA-EJ-5510-01A-01D-1576-08	8954018	62199180	45150360	29	3052											
TEKT1	83659	broad.mit.edu	37	chr17	6716186	6716186	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gccagcttgtccctggcatcCtttgtatccttcagcccatt	5	14	7	15	0	1	0	1	0	0	0	4	0	4	0	5	1	2	3	5	1	1	5			TCGA-EJ-5510-01A-01D-1576-08	TCGA-EJ-5510-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c55ec8be-cd73-4275-8407-5814a1fc51d5	96d81c6a-b658-42f7-8102-6ff08f9ba464	g.chr17:6716186C>G	ENST00000338694.2	-	6	945	c.816G>C	c.(814-816)aaG>aaC	p.K272N	TEKT1_ENST00000535086.1_Missense_Mutation_p.K126N	NM_053285.1	NP_444515.1	Q969V4	TEKT1_HUMAN	tektin 1	272						cilium (GO:0005929)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)		p.K272N(1)		NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)	20		Myeloproliferative disorder(207;0.0255)				CCCTGGCATCCTTTGTATCCT	0.527																																						ENST00000338694.2																			1	Substitution - Missense(1)	p.K272N(1)	prostate(1)	NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)	20						c.(814-816)aaG>aaC		tektin 1							219	178	192					17																	6716186		2203	4300	6503	SO:0001583	missense	83659				microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule		g.chr17:6716186C>G		CCDS11083.1	17p13.2	2011-05-23			ENSG00000167858	ENSG00000167858			15534	protein-coding gene	gene with protein product		609002				11606253	Standard	NM_053285		Approved		uc002gdt.3	Q969V4	OTTHUMG00000102063	ENST00000338694.2:c.816G>C	17.37:g.6716186C>G	ENSP00000341346:p.Lys272Asn					TEKT1_ENST00000535086.1_Missense_Mutation_p.K126N	p.K272N	NM_053285.1	NP_444515.1	Q969V4	TEKT1_HUMAN			6	945	-		Myeloproliferative disorder(207;0.0255)	272					D3DTM7	Missense_Mutation	SNP	ENST00000338694.2	37	c.816G>C	CCDS11083.1	.	.	.	.	.	.	.	.	.	.	C	12.47	1.949129	0.34377	.	.	ENSG00000167858	ENST00000338694;ENST00000535086	T;T	0.02709	4.19;4.19	4.79	-0.0725	0.13739	.	0.049910	0.85682	D	0.000000	T	0.04182	0.0116	M	0.61703	1.905	0.44409	D	0.997322	B	0.20988	0.05	B	0.32762	0.152	T	0.34403	-0.9830	10	0.37606	T	0.19	.	6.7215	0.23332	0.0:0.4279:0.0:0.5721	.	272	Q969V4	TEKT1_HUMAN	N	272;126	ENSP00000341346:K272N;ENSP00000444142:K126N	ENSP00000341346:K272N	K	-	3	2	TEKT1	6656910	0.993000	0.37304	0.979000	0.43373	0.521000	0.34408	0.302000	0.19192	0.197000	0.20387	-0.191000	0.12829	AAG		0.527	TEKT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219867.2	NM_053285		32	158	0	0	0	1	0	32	158					G	6716186	C	G	6716186	3	3	59	1	0	0	0	0	1	0	0	0	15749	680	24	5	452	5	TEKT1	17	6716186	Missense_Mutation	SNP	C	TCGA-EJ-5510-01A-01D-1576-08		6716186	74479024	30	3053											
GSK3A	2931	broad.mit.edu	37	chr19	42736723	42736723	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcccagacatcgcagttcatCaaagaagctgtgcgcacagg	12	7	10	12	2	2	2	2	0	0	2	4	2	3	2	1	1	2	4	1	1	2	1			TCGA-EJ-5510-01A-01D-1576-08	TCGA-EJ-5510-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c55ec8be-cd73-4275-8407-5814a1fc51d5	96d81c6a-b658-42f7-8102-6ff08f9ba464	g.chr19:42736723C>A	ENST00000222330.3	-	9	1337	c.1210G>T	c.(1210-1212)Gat>Tat	p.D404Y	GSK3A_ENST00000398249.4_Missense_Mutation_p.D322Y	NM_019884.2	NP_063937.2	P49840	GSK3A_HUMAN	glycogen synthase kinase 3 alpha	404					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cardiac left ventricle morphogenesis (GO:0003214)|cell migration (GO:0016477)|cellular protein metabolic process (GO:0044267)|cellular response to insulin stimulus (GO:0032869)|cellular response to interleukin-3 (GO:0036016)|cellular response to lithium ion (GO:0071285)|cellular response to organic cyclic compound (GO:0071407)|endoplasmic reticulum unfolded protein response (GO:0030968)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glycogen metabolic process (GO:0005977)|hypermethylation of CpG island (GO:0044027)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell growth involved in cardiac muscle cell development (GO:0061052)|negative regulation of glucose import (GO:0046325)|negative regulation of glycogen (starch) synthase activity (GO:2000466)|negative regulation of glycogen biosynthetic process (GO:0045719)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of TOR signaling (GO:0032007)|negative regulation of transferase activity (GO:0051348)|negative regulation of type B pancreatic cell development (GO:2000077)|negative regulation of UDP-glucose catabolic process (GO:0010905)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of adrenergic receptor signaling pathway (GO:0071879)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of glycogen (starch) synthase activity (GO:2000467)|positive regulation of heart contraction (GO:0045823)|positive regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway (GO:1901030)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein phosphorylation (GO:0006468)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of systemic arterial blood pressure (GO:0003073)|Wnt signaling pathway (GO:0016055)	beta-catenin destruction complex (GO:0030877)|cytosol (GO:0005829)	ATP binding (GO:0005524)|protein kinase A catalytic subunit binding (GO:0034236)|protein serine/threonine kinase activity (GO:0004674)|tau-protein kinase activity (GO:0050321)	p.D404Y(2)		endometrium(3)|large_intestine(3)|lung(6)|ovary(3)|prostate(2)|skin(1)|urinary_tract(1)	19		Prostate(69;0.00682)				CGCAGTTCATCAAAGAAGCTG	0.602																																						ENST00000398249.4																			2	Substitution - Missense(2)	p.D404Y(2)	prostate(2)	endometrium(3)|large_intestine(3)|lung(6)|ovary(3)|prostate(2)|skin(1)|urinary_tract(1)	19						c.(964-966)Gat>Tat		glycogen synthase kinase 3 alpha							76	72	73					19																	42736723		2203	4300	6503	SO:0001583	missense	2931				insulin receptor signaling pathway|negative regulation of glucose import|negative regulation of insulin receptor signaling pathway|negative regulation of transferase activity|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of protein catabolic process	beta-catenin destruction complex|cytosol	ATP binding|protein kinase A catalytic subunit binding|protein serine/threonine kinase activity|tau-protein kinase activity	g.chr19:42736723C>A		CCDS12599.1	19q13	2008-02-15			ENSG00000105723	ENSG00000105723			4616	protein-coding gene	gene with protein product		606784				9809441	Standard	NM_019884		Approved		uc002otb.1	P49840	OTTHUMG00000150722	ENST00000222330.3:c.1210G>T	19.37:g.42736723C>A	ENSP00000222330:p.Asp404Tyr					GSK3A_ENST00000222330.3_Missense_Mutation_p.D404Y	p.D322Y			P49840	GSK3A_HUMAN			8	2677	-		Prostate(69;0.00682)	404			Protein kinase.		O14959	Missense_Mutation	SNP	ENST00000222330.3	37	c.964G>T	CCDS12599.1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.400802	0.83120	.	.	ENSG00000105723	ENST00000222330;ENST00000398249;ENST00000544315	T;T	0.42513	0.97;0.97	4.88	4.88	0.63580	Protein kinase-like domain (1);	0.063133	0.64402	D	0.000013	T	0.67126	0.2860	M	0.87682	2.9	0.80722	D	1	D;D	0.69078	0.996;0.997	P;P	0.61722	0.893;0.863	T	0.74890	-0.3510	10	0.87932	D	0	-15.9283	17.1868	0.86868	0.0:1.0:0.0:0.0	.	404;322	P49840;A8MT37	GSK3A_HUMAN;.	Y	404;322;349	ENSP00000222330:D404Y;ENSP00000381301:D322Y	ENSP00000222330:D404Y	D	-	1	0	GSK3A	47428563	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	5.447000	0.66606	2.453000	0.82957	0.561000	0.74099	GAT		0.602	GSK3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319782.1			3	72	1	0	1	1	1	3	72					A	42736723	C	A	42736723	3	1	59	1	0	0	0	0	1	0	0	0	6823	826	29	5	253	5	GSK3A	19	42736723	Missense_Mutation	SNP	C	TCGA-EJ-5510-01A-01D-1576-08		42736723	16392260	31	3054											
DYRK1A	1859	broad.mit.edu	37	chr21	38858790	38858790	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgtaaaggcatatgatcgtGtggagcaagaatgggttgcc	11	11	14	5	1	0	2	0	1	0	1	1	3	0	3	1	3	2	4	1	3	5	4			TCGA-EJ-5510-01A-01D-1576-08	TCGA-EJ-5510-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c55ec8be-cd73-4275-8407-5814a1fc51d5	96d81c6a-b658-42f7-8102-6ff08f9ba464	g.chr21:38858790G>A	ENST00000398960.2	+	5	613	c.538G>A	c.(538-540)Gtg>Atg	p.V180M	DYRK1A_ENST00000451934.1_Missense_Mutation_p.V180M|DYRK1A_ENST00000338785.3_Missense_Mutation_p.V180M|DYRK1A_ENST00000339659.4_Missense_Mutation_p.V171M|DYRK1A_ENST00000455387.2_5'Flank|DYRK1A_ENST00000398956.2_Missense_Mutation_p.V180M|DYRK1A_ENST00000321219.8_Missense_Mutation_p.V180M	NM_001396.3|NM_130438.2	NP_001387.2|NP_569122.1	Q13627	DYR1A_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1A	180	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				circadian rhythm (GO:0007623)|mitotic cell cycle (GO:0000278)|negative regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043518)|nervous system development (GO:0007399)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of protein deacetylation (GO:0090312)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)	nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase activity (GO:0004672)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)|tau protein binding (GO:0048156)	p.V180M(1)		breast(4)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	42						ATATGATCGTGTGGAGCAAGA	0.308																																					Melanoma(114;464 1602 31203 43785 45765)	ENST00000339659.3																			1	Substitution - Missense(1)	p.V180M(1)	prostate(1)	breast(4)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	42						c.(511-513)Gtg>Atg		dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1A							85	86	85					21																	38858790		2203	4300	6503	SO:0001583	missense	1859				nervous system development|peptidyl-tyrosine phosphorylation|protein autophosphorylation	nuclear speck	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding|protein self-association|protein serine/threonine kinase activity	g.chr21:38858790G>A	U52373	CCDS13653.1, CCDS13654.1, CCDS42925.1, CCDS42926.1	21q22.13	2010-04-21			ENSG00000157540	ENSG00000157540			3091	protein-coding gene	gene with protein product		600855		DYRK1, DYRK, MNBH		9284911	Standard	NM_130436		Approved		uc002ywk.3	Q13627	OTTHUMG00000086657	ENST00000398960.2:c.538G>A	21.37:g.38858790G>A	ENSP00000381932:p.Val180Met					DYRK1A_ENST00000338785.3_Missense_Mutation_p.V180M|DYRK1A_ENST00000321219.8_Missense_Mutation_p.V180M|DYRK1A_ENST00000451934.1_Missense_Mutation_p.V180M|DYRK1A_ENST00000398956.2_Missense_Mutation_p.V180M|DYRK1A_ENST00000398960.2_Missense_Mutation_p.V180M	p.V171M	NM_130436.2	NP_569120.1	Q13627	DYR1A_HUMAN			5	1981	+			180			Protein kinase.		O60769|Q92582|Q92810|Q9UNM5	Missense_Mutation	SNP	ENST00000398960.2	37	c.511G>A	CCDS42925.1	.	.	.	.	.	.	.	.	.	.	G	16.61	3.170939	0.57584	.	.	ENSG00000157540	ENST00000338785;ENST00000339659;ENST00000321219;ENST00000451934;ENST00000398960;ENST00000398956	T;T;T;T;T;T	0.65364	-0.15;-0.15;-0.15;-0.15;-0.15;-0.15	5.54	5.54	0.83059	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.117105	0.56097	D	0.000021	T	0.63628	0.2527	L	0.59967	1.855	0.80722	D	1	B;B;P;B;B	0.34724	0.002;0.002;0.465;0.161;0.002	B;B;B;B;B	0.37451	0.001;0.001;0.25;0.162;0.001	T	0.60239	-0.7302	9	.	.	.	.	19.8426	0.96695	0.0:0.0:1.0:0.0	.	180;180;180;171;180	Q13627-3;Q13627-4;Q13627;Q13627-2;Q13627-5	.;.;DYR1A_HUMAN;.;.	M	180;171;180;180;180;180	ENSP00000342690:V180M;ENSP00000340373:V171M;ENSP00000319032:V180M;ENSP00000416089:V180M;ENSP00000381932:V180M;ENSP00000381929:V180M	.	V	+	1	0	DYRK1A	37780660	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.846000	0.55888	2.751000	0.94390	0.591000	0.81541	GTG		0.308	DYRK1A-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194804.1	NM_001396		36	167	0	0	0	1	0	36	167					A	38858790	G	A	38858790	3	1	59	1	0	0	0	0	1	0	0	0	4854	1377	48	3	556	3	DYRK1A	21	38858790	Missense_Mutation	SNP	G	TCGA-EJ-5510-01A-01D-1576-08		38858790	9271105	32	3055											
FAM47B	170062	broad.mit.edu	37	chrX	34962848	34962848	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtgcagtgcaagtttacaagTacaaagaagacgtcacagat	16	8	10	7	1	1	3	1	0	0	3	1	3	1	3	0	0	4	4	0	0	6	3			TCGA-EJ-5510-01A-01D-1576-08	TCGA-EJ-5510-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c55ec8be-cd73-4275-8407-5814a1fc51d5	96d81c6a-b658-42f7-8102-6ff08f9ba464	g.chrX:34962848T>C	ENST00000329357.5	+	1	1936	c.1900T>C	c.(1900-1902)Tac>Cac	p.Y634H		NM_152631.2	NP_689844.2	Q8NA70	FA47B_HUMAN	family with sequence similarity 47, member B	634										breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	71						AGTTTACAAGTACAAAGAAGA	0.388																																						ENST00000329357.5																			0				breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	71						c.(1900-1902)Tac>Cac		family with sequence similarity 47, member B							123	111	115					X																	34962848		2202	4300	6502	SO:0001583	missense	170062							g.chrX:34962848T>C	BC035026	CCDS14236.1	Xp21.1	2004-08-09			ENSG00000189132	ENSG00000189132			26659	protein-coding gene	gene with protein product						14702039	Standard	NM_152631		Approved	FLJ35782	uc004ddi.2	Q8NA70	OTTHUMG00000021345	ENST00000329357.5:c.1900T>C	X.37:g.34962848T>C	ENSP00000328307:p.Tyr634His						p.Y634H	NM_152631.2	NP_689844.2	Q8NA70	FA47B_HUMAN			1	1936	+			634					Q5JQN5|Q6PIG3	Missense_Mutation	SNP	ENST00000329357.5	37	c.1900T>C	CCDS14236.1	.	.	.	.	.	.	.	.	.	.	T	7.834	0.720460	0.15372	.	.	ENSG00000189132	ENST00000329357	T	0.15487	2.42	0.843	-0.427	0.12310	.	.	.	.	.	T	0.35508	0.0934	M	0.73598	2.24	0.09310	N	1	D	0.89917	1.0	D	0.87578	0.998	T	0.11690	-1.0577	8	0.66056	D	0.02	.	.	.	.	.	634	Q8NA70	FA47B_HUMAN	H	634	ENSP00000328307:Y634H	ENSP00000328307:Y634H	Y	+	1	0	FAM47B	34872769	0.006000	0.16342	0.000000	0.03702	0.003000	0.03518	0.309000	0.19332	-0.204000	0.10235	0.242000	0.17961	TAC		0.388	FAM47B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056211.1	NM_152631		3	179	0	0	0	1	0	3	179					C	34962848	T	C	34962848	3	2	59	1	0	0	0	0	1	0	0	0	5570	1638	57	4	1902	4	FAM47B	23	34962848	Missense_Mutation	SNP	T	TCGA-EJ-5510-01A-01D-1576-08		34962848	120307712	33	3056											
FAM47C	442444	broad.mit.edu	37	chrX	37027785	37027785	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggagcctcccaagactcgCggatctcatctccgcccgga	7	7	10	17	4	2	1	1	0	2	1	6	4	3	4	4	3	1	0	4	3	1	0			TCGA-EJ-5510-01A-01D-1576-08	TCGA-EJ-5510-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c55ec8be-cd73-4275-8407-5814a1fc51d5	96d81c6a-b658-42f7-8102-6ff08f9ba464	g.chrX:37027785C>T	ENST00000358047.3	+	1	1354	c.1302C>T	c.(1300-1302)cgC>cgT	p.R434R		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	434								p.R434R(2)		breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						CCAAGACTCGCGGATCTCATC	0.617																																						ENST00000358047.3																			2	Substitution - coding silent(2)	p.R434R(2)	prostate(2)	breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						c.(1300-1302)cgC>cgT		family with sequence similarity 47, member C							60	59	60					X																	37027785		2202	4300	6502	SO:0001819	synonymous_variant	442444							g.chrX:37027785C>T	AK125992	CCDS35227.1	Xp21.1	2006-07-04			ENSG00000198173	ENSG00000198173			25301	protein-coding gene	gene with protein product							Standard	NM_001013736		Approved		uc004ddl.2	Q5HY64	OTTHUMG00000024025	ENST00000358047.3:c.1302C>T	X.37:g.37027785C>T							p.R434R	NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN			1	1354	+			434					Q6ZU46	Silent	SNP	ENST00000358047.3	37	c.1302C>T	CCDS35227.1																																																																																				0.617	FAM47C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060508.1	NM_001013736		28	33	0	0	0	1	0	28	33					T	37027785	C	T	37027785	2	4	59	1	0	0	0	0	0	0	0	1	5571	755	27	1		1	FAM47C	23	37027785	Silent	SNP	C	TCGA-EJ-5510-01A-01D-1576-08	2064937	37027785	118242775	34	3057											
MED12	9968	broad.mit.edu	37	chrX	70349258	70349258	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atggagccgtgtttgctgttCtcaaggctgtgtttgtactt	5	17	12	7	1	1	0	1	0	1	0	2	1	1	1	1	2	3	6	1	2	2	5			TCGA-EJ-5510-01A-01D-1576-08	TCGA-EJ-5510-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c55ec8be-cd73-4275-8407-5814a1fc51d5	96d81c6a-b658-42f7-8102-6ff08f9ba464	g.chrX:70349258C>T	ENST00000374080.3	+	26	3702	c.3670C>T	c.(3670-3672)Ctc>Ttc	p.L1224F	MED12_ENST00000333646.6_Missense_Mutation_p.L1224F|MED12_ENST00000374102.1_Missense_Mutation_p.L1224F			Q93074	MED12_HUMAN	mediator complex subunit 12	1224					androgen receptor signaling pathway (GO:0030521)|axis elongation involved in somitogenesis (GO:0090245)|canonical Wnt signaling pathway (GO:0060070)|gene expression (GO:0010467)|heart development (GO:0007507)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|negative regulation of Wnt signaling pathway (GO:0030178)|neural tube closure (GO:0001843)|oligodendrocyte development (GO:0014003)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|Schwann cell development (GO:0014044)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein C-terminus binding (GO:0008022)|protein domain specific binding (GO:0019904)|receptor activity (GO:0004872)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II transcription cofactor activity (GO:0001104)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)	p.L1224F(10)|p.V1223>?(2)|p.L1224V(2)		breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					GTTTGCTGTTCTCAAGGCTGT	0.562			"M, S"		uterine leiomyoma		Opitz-Kaveggia Syndrome				OREG0019857	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000333646.6				Dom	yes		X	Xq13	9968	"M, S"	mediator complex subunit 12	Yes	Opitz-Kaveggia Syndrome	M			uterine leiomyoma		14	Substitution - Missense(12)|Complex(2)	p.L1224F(10)|p.V1223>?(2)|p.L1224V(2)	prostate(12)|lung(2)	breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420						c.(3670-3672)Ctc>Ttc		mediator complex subunit 12							49	51	51					X																	70349258		2086	4189	6275	SO:0001583	missense	9968				androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	g.chrX:70349258C>T	U80742	CCDS43970.1	Xq13	2011-02-14	2007-07-30	2004-11-26	ENSG00000184634	ENSG00000184634			11957	protein-coding gene	gene with protein product		300188	"trinucleotide repeat containing 11 (THR-associated protein, 230kDa subunit)", "mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)", "FG syndrome 1"	TNRC11, FGS1		9225980, 10198638, 17334363, 20507344	Standard	NM_005120		Approved	CAGH45, HOPA, OPA1, TRAP230, KIAA0192, OKS	uc004dyy.3	Q93074	OTTHUMG00000021788	ENST00000374080.3:c.3670C>T	X.37:g.70349258C>T	ENSP00000363193:p.Leu1224Phe		OREG0019857	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1121	MED12_ENST00000374102.1_Missense_Mutation_p.L1224F|MED12_ENST00000374080.3_Missense_Mutation_p.L1224F	p.L1224F	NM_005120.2	NP_005111.2	Q93074	MED12_HUMAN			26	3869	+	Renal(35;0.156)		1224					O15410|O75557|Q9UHV6|Q9UND7	Missense_Mutation	SNP	ENST00000374080.3	37	c.3670C>T	CCDS43970.1	.	.	.	.	.	.	.	.	.	.	.	20.2	3.946602	0.73672	.	.	ENSG00000184634	ENST00000333646;ENST00000536756;ENST00000374102;ENST00000374080;ENST00000430072	T;T;T;T	0.34472	1.36;1.36;1.36;1.36	5.09	5.09	0.68999	.	0.000000	0.85682	D	0.000000	T	0.61261	0.2333	M	0.72353	2.195	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.998;0.999;0.998	T	0.65100	-0.6250	10	0.87932	D	0	-17.5145	17.9253	0.88982	0.0:1.0:0.0:0.0	.	1224;1071;1224;1224	F5H3Y1;Q7Z3Z5;Q93074-3;Q93074	.;.;.;MED12_HUMAN	F	1224;1224;1224;1224;1192	ENSP00000333125:L1224F;ENSP00000363215:L1224F;ENSP00000363193:L1224F;ENSP00000414203:L1192F	ENSP00000333125:L1224F	L	+	1	0	MED12	70265983	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.474000	0.53129	2.509000	0.84616	0.529000	0.55759	CTC		0.562	MED12-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000057105.1	NM_005120		11	34	0	0	0	1	0	11	34					T	70349258	C	T	70349258	3	4	59	1	0	0	0	0	1	0	0	0	9428	913	32	3	3772	3	MED12	23	70349258	Missense_Mutation	SNP	C	TCGA-EJ-5510-01A-01D-1576-08	33321473	70349258	84921302	35	3058											
ZCCHC12	170261	broad.mit.edu	37	chrX	117959282	117959282	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccgccttgggcccattccatGctgaggtccctggggagaag	6	8	14	13	1	0	2	0	1	0	1	2	3	2	2	5	4	1	1	5	4	1	2			TCGA-EJ-5510-01A-01D-1576-08	TCGA-EJ-5510-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c55ec8be-cd73-4275-8407-5814a1fc51d5	96d81c6a-b658-42f7-8102-6ff08f9ba464	g.chrX:117959282G>A	ENST00000310164.2	+	4	582	c.75G>A	c.(73-75)atG>atA	p.M25I		NM_173798.2	NP_776159.1	Q6PEW1	ZCH12_HUMAN	zinc finger, CCHC domain containing 12	25					BMP signaling pathway (GO:0030509)|transcription, DNA-templated (GO:0006351)	nuclear speck (GO:0016607)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)	p.M25I(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(2)	22						CCCATTCCATGCTGAGGTCCC	0.572																																						ENST00000310164.2																			1	Substitution - Missense(1)	p.M25I(1)	prostate(1)	breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(2)	22						c.(73-75)atG>atA		zinc finger, CCHC domain containing 12							75	66	69					X																	117959282		2203	4300	6503	SO:0001583	missense	170261				regulation of transcription, DNA-dependent|transcription, DNA-dependent		nucleic acid binding|zinc ion binding	g.chrX:117959282G>A	AK122676	CCDS14574.1	Xq24	2013-10-11			ENSG00000174460	ENSG00000174460		"Zinc fingers, CCHC domain containing", "Paraneoplastic Ma antigens"	27273	protein-coding gene	gene with protein product	"paraneoplastic Ma antigen family member 7A"	300701				21739307, 19578717	Standard	NM_173798		Approved	FLJ16123, SIZN, SIZN1, PNMA7A	uc004equ.3	Q6PEW1	OTTHUMG00000022261	ENST00000310164.2:c.75G>A	X.37:g.117959282G>A	ENSP00000308921:p.Met25Ile						p.M25I	NM_173798.2	NP_776159.1	Q6PEW1	ZCH12_HUMAN			4	582	+			25					B3KV48|Q6PID5|Q8N1C1	Missense_Mutation	SNP	ENST00000310164.2	37	c.75G>A	CCDS14574.1	.	.	.	.	.	.	.	.	.	.	G	8.644	0.896655	0.17686	.	.	ENSG00000174460	ENST00000310164	T	0.08720	3.06	3.05	3.05	0.35203	.	0.000000	0.42548	D	0.000695	T	0.06416	0.0165	L	0.36672	1.1	0.29044	N	0.884948	B	0.06786	0.001	B	0.09377	0.004	T	0.18777	-1.0326	10	0.21014	T	0.42	-11.0261	8.7495	0.34607	0.0:0.0:1.0:0.0	.	25	Q6PEW1	ZCH12_HUMAN	I	25	ENSP00000308921:M25I	ENSP00000308921:M25I	M	+	3	0	ZCCHC12	117843310	1.000000	0.71417	1.000000	0.80357	0.664000	0.39144	2.403000	0.44530	1.792000	0.52537	0.529000	0.55759	ATG		0.572	ZCCHC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058014.1	NM_173798		25	46	0	0	0	1	0	25	46					A	117959282	G	A	117959282	3	1	59	1	0	0	0	0	1	0	0	0	17578	1319	46	3	77	3	ZCCHC12	23	117959282	Missense_Mutation	SNP	G	TCGA-EJ-5510-01A-01D-1576-08	47610024	117959282	37311278	36	3059											
FGGY	55277	broad.mit.edu	37	chr1	59805628	59805629	+	Splice_Site	DEL	AG	AG	-																															tttttatttgtttttaaaacAgaaagttgtacaagggattg																										TCGA-EJ-5511-01A-01D-1576-08	TCGA-EJ-5511-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e536fb66-cd30-4a00-9c66-ca13be6fe4b1	4452049f-29f1-46b3-92c6-41ebe5c50439	g.chr1:59805628_59805629delAG	ENST00000303721.7	+	3	375		c.e3-1		FGGY_ENST00000371212.1_Intron|FGGY_ENST00000371218.4_Splice_Site|FGGY_ENST00000474476.1_Intron	NM_018291.3	NP_060761.3	Q96C11	FGGY_HUMAN	FGGY carbohydrate kinase domain containing						carbohydrate metabolic process (GO:0005975)|cell death (GO:0008219)|neuron cellular homeostasis (GO:0070050)		kinase activity (GO:0016301)|phosphotransferase activity, alcohol group as acceptor (GO:0016773)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	22	all_cancers(7;7.36e-05)					TTTTTAAAACAGAAAGTTGTAC	0.342																																						ENST00000371218.4																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	22						c.e3-1		FGGY carbohydrate kinase domain containing																																				SO:0001630	splice_region_variant	55277				carbohydrate metabolic process|cell death|neuron homeostasis		kinase activity|phosphotransferase activity, alcohol group as acceptor	g.chr1:59805628_59805629delAG		CCDS611.2, CCDS44155.1, CCDS58003.1, CCDS60155.1	1p32.1	2008-10-23			ENSG00000172456	ENSG00000172456			25610	protein-coding gene	gene with protein product		611370				17671248	Standard	NM_018291		Approved	FLJ10986	uc009wac.3	Q96C11	OTTHUMG00000008424	ENST00000303721.7:c.202-1AG>-	1.37:g.59805628_59805629delAG						FGGY_ENST00000371212.1_Intron|FGGY_ENST00000474476.1_Intron|FGGY_ENST00000303721.7_Splice_Site		NM_001113411.1	NP_001106882.1	Q96C11	FGGY_HUMAN			3	385	+	all_cancers(7;7.36e-05)							B1AK92|B1AK93|B1AK94|B2RDR8|D3DQ56|Q9HA63|Q9NV20	Splice_Site	DEL	ENST00000303721.7	37		CCDS611.2																																																																																				0.342	FGGY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023210.2	NM_001113411	Intron	9	37						9	37	---	---	---	---	-	59805629	AG	-	59805628	8	5	60	1	0	1	0	1	0	0	1	0	5871	202	7	0	206	0	FGGY	1	59805628	Splice_Site	DEL	AG	TCGA-EJ-5511-01A-01D-1576-08		59805628	189444993	1	3060											
GBP1	2633	broad.mit.edu	37	chr1	89523762	89523762	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagtctgctacttgttgcaCaaattcggggtccagctctt	8	13	10	10	1	2	0	0	0	2	0	4	1	3	0	1	2	4	4	1	2	3	5			TCGA-EJ-5511-01A-01D-1576-08	TCGA-EJ-5511-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e536fb66-cd30-4a00-9c66-ca13be6fe4b1	4452049f-29f1-46b3-92c6-41ebe5c50439	g.chr1:89523762C>T	ENST00000370473.4	-	6	1006	c.787G>A	c.(787-789)Gtg>Atg	p.V263M	GBP1_ENST00000484970.1_5'Flank	NM_002053.2	NP_002044.2	P32455	GBP1_HUMAN	guanylate binding protein 1, interferon-inducible	263	GB1/RHD3-type G.|GTPase domain (Globular).				cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)	cytosol (GO:0005829)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)	p.V263M(1)		endometrium(7)|kidney(4)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	30		Lung NSC(277;0.123)		all cancers(265;0.0156)|Epithelial(280;0.0291)		ACTTGTTGCACAAATTCGGGG	0.473																																						ENST00000370473.4																			1	Substitution - Missense(1)	p.V263M(1)	prostate(1)	endometrium(7)|kidney(4)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	30						c.(787-789)Gtg>Atg		guanylate binding protein 1, interferon-inducible							151	160	157					1																	89523762		2203	4300	6503	SO:0001583	missense	2633				interferon-gamma-mediated signaling pathway	plasma membrane	GTP binding|GTPase activity	g.chr1:89523762C>T	BC002666	CCDS718.1	1p22.2	2011-03-09	2011-03-09		ENSG00000117228	ENSG00000117228			4182	protein-coding gene	gene with protein product		600411	"guanylate binding protein 1, interferon-inducible, 67kDa"			7518790	Standard	NM_002053		Approved		uc001dmx.2	P32455	OTTHUMG00000010614	ENST00000370473.4:c.787G>A	1.37:g.89523762C>T	ENSP00000359504:p.Val263Met						p.V263M	NM_002053.2	NP_002044.2	P32455	GBP1_HUMAN		all cancers(265;0.0156)|Epithelial(280;0.0291)	6	1006	-		Lung NSC(277;0.123)	263					D3DT26|Q5T8M1	Missense_Mutation	SNP	ENST00000370473.4	37	c.787G>A	CCDS718.1	.	.	.	.	.	.	.	.	.	.	C	15.14	2.743887	0.49151	.	.	ENSG00000117228	ENST00000370473;ENST00000542693	T	0.74737	-0.87	4.48	-0.0912	0.13661	Guanylate-binding protein, N-terminal (1);	0.538338	0.18532	N	0.138476	T	0.58864	0.2152	M	0.92649	3.33	0.21290	N	0.99974	D	0.52996	0.957	B	0.39904	0.313	T	0.58228	-0.7673	10	0.52906	T	0.07	.	2.6481	0.04991	0.1468:0.5292:0.1434:0.1806	.	263	P32455	GBP1_HUMAN	M	263;226	ENSP00000359504:V263M	ENSP00000359504:V263M	V	-	1	0	GBP1	89296350	0.002000	0.14202	0.013000	0.15412	0.256000	0.26092	-0.403000	0.07214	0.318000	0.23185	0.313000	0.20887	GTG		0.473	GBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029289.3	NM_002053		23	351	0	0	0	1	0	23	351					T	89523762	C	T	89523762	3	4	60	1	0	0	0	0	1	0	0	0	6273	478	17	3	1015	3	GBP1	1	89523762	Missense_Mutation	SNP	C	TCGA-EJ-5511-01A-01D-1576-08	29718134	89523762	159726859	2	3061											
HFM1	164045	broad.mit.edu	37	chr1	91846539	91846539	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaatacttctaaattttgccGcttacaataacattaaggag	16	13	5	7	1	1	0	0	0	1	0	1	1	1	1	1	1	4	1	1	1	8	8	rs146051438		TCGA-EJ-5511-01A-01D-1576-08	TCGA-EJ-5511-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e536fb66-cd30-4a00-9c66-ca13be6fe4b1	4452049f-29f1-46b3-92c6-41ebe5c50439	g.chr1:91846539G>A	ENST00000370425.3	-	7	901	c.803C>T	c.(802-804)cCg>cTg	p.P268L	HFM1_ENST00000370424.3_Intron|HFM1_ENST00000294696.5_5'UTR	NM_001017975.3	NP_001017975.3	A2PYH4	HFM1_HUMAN	HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae)	268					resolution of meiotic recombination intermediates (GO:0000712)		ATP binding (GO:0005524)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)	p.P268L(2)		breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	75		all_lung(203;0.00961)|Lung NSC(277;0.0351)		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)		AAATTTTGCCGCTTACAATAA	0.214													G|||	1	0.000199681	0	0	5008	,	,		15524	0		0	False		,,,				2504	0.001					ENST00000370425.3																			2	Substitution - Missense(2)	p.P268L(2)	large_intestine(1)|prostate(1)	breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	75						c.e7-1		HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae)		G	LEU/PRO	1,4387	2.1+/-5.4	0,1,2193	53	63	59		803	5.8	1	1	dbSNP_134	59	2,8586	1.2+/-3.3	0,2,4292	no	missense-near-splice	HFM1	NM_001017975.3	98	0,3,6485	AA,AG,GG		0.0233,0.0228,0.0231	probably-damaging	268/1436	91846539	3,12973	2194	4294	6488	SO:0001630	splice_region_variant	164045						ATP binding|ATP-dependent helicase activity|nucleic acid binding	g.chr1:91846539G>A	AB204867	CCDS30769.2	1p22.2	2008-03-26			ENSG00000162669	ENSG00000162669			20193	protein-coding gene	gene with protein product		615684	"SEC63 domain containing 1"	SEC63D1		14702039, 17286053	Standard	XM_006710395		Approved	MER3, FLJ39011, FLJ36760	uc001doa.4	A2PYH4	OTTHUMG00000010093	ENST00000370425.3:c.803-1C>T	1.37:g.91846539G>A						HFM1_ENST00000294696.5_5'UTR|HFM1_ENST00000370424.3_Intron	p.P268_splice	NM_001017975.3	NP_001017975.3	A2PYH4	HFM1_HUMAN		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)	7	901	-		all_lung(203;0.00961)|Lung NSC(277;0.0351)	268					B1B0B6|Q8N9Q0	Splice_Site	SNP	ENST00000370425.3	37	c.802_splice	CCDS30769.2	.	.	.	.	.	.	.	.	.	.	G	31	5.060525	0.93846	2.28E-4	2.33E-4	ENSG00000162669	ENST00000370425;ENST00000541820;ENST00000448819	T	0.63255	-0.03	5.81	5.81	0.92471	.	0.168281	0.22016	U	0.065785	T	0.71986	0.3405	L	0.52573	1.65	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.69824	0.918;0.966	T	0.73190	-0.4061	10	0.87932	D	0	.	20.0782	0.97758	0.0:0.0:1.0:0.0	.	268;268	B7ZM16;A2PYH4	.;HFM1_HUMAN	L	268;301;127	ENSP00000359454:P268L	ENSP00000359454:P268L	P	-	2	0	HFM1	91619127	1.000000	0.71417	0.995000	0.50966	0.984000	0.73092	9.229000	0.95273	2.746000	0.94184	0.655000	0.94253	CCG		0.214	HFM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316716.2	NM_001017975	Missense_Mutation	14	108	0	0	0	1	0	14	108					A	91846539	G	A	91846539	5	1	60	1	0	0	0	0	0	0	1	0	7083	1101	38	1	3636	1	HFM1	1	91846539	Splice_Site	SNP	G	TCGA-EJ-5511-01A-01D-1576-08	2322777	91846539	157404082	3	3062											
KCND3	3752	broad.mit.edu	37	chr1	112524316	112524316	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gaacttgctggccgaggagcCcttctcggcataaaacatca	11	8	10	12	2	2	0	1	0	1	0	3	3	2	1	2	3	4	2	2	3	3	3			TCGA-EJ-5511-01A-01D-1576-08	TCGA-EJ-5511-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e536fb66-cd30-4a00-9c66-ca13be6fe4b1	4452049f-29f1-46b3-92c6-41ebe5c50439	g.chr1:112524316C>T	ENST00000315987.2	-	2	1512	c.1033G>A	c.(1033-1035)Ggc>Agc	p.G345S	KCND3_ENST00000302127.4_Missense_Mutation_p.G345S|KCND3_ENST00000369697.1_Missense_Mutation_p.G345S	NM_004980.4	NP_004971.2	Q9UK17	KCND3_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 3	345			G -> V (in SCA19). {ECO:0000269|PubMed:23280837}.		cell death (GO:0008219)|membrane repolarization (GO:0086009)|potassium ion export (GO:0071435)|potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|neuronal cell body (GO:0043025)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	A-type (transient outward) potassium channel activity (GO:0005250)|ion channel binding (GO:0044325)|metal ion binding (GO:0046872)	p.G345S(1)		NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	49		all_cancers(81;8.52e-06)|all_epithelial(167;5.65e-06)|all_lung(203;2.72e-05)|Lung NSC(69;4.56e-05)		all cancers(265;0.056)|Lung(183;0.0576)|Colorectal(144;0.1)|Epithelial(280;0.104)|COAD - Colon adenocarcinoma(174;0.222)|LUSC - Lung squamous cell carcinoma(189;0.231)	Amitriptyline(DB00321)|Dalfampridine(DB06637)|Disopyramide(DB00280)|Imipramine(DB00458)	GCCGAGGAGCCCTTCTCGGCA	0.527																																						ENST00000369697.1																			1	Substitution - Missense(1)	p.G345S(1)	prostate(1)	NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	49						c.(1033-1035)Ggc>Agc		potassium voltage-gated channel, Shal-related subfamily, member 3							110	98	102					1																	112524316		2203	4300	6503	SO:0001583	missense	3752					sarcolemma|voltage-gated potassium channel complex	A-type (transient outward) potassium channel activity|metal ion binding	g.chr1:112524316C>T	AF048713	CCDS843.1, CCDS844.1	1p13.2	2014-09-17			ENSG00000171385	ENSG00000171385		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6239	protein-coding gene	gene with protein product		605411	"spinocerebellar ataxia 22", "spinocerebellar ataxia 19"	SCA22, SCA19		10942109, 16382104, 23280837	Standard	NM_172198		Approved	Kv4.3, KSHIVB	uc001ebu.1	Q9UK17	OTTHUMG00000011989	ENST00000315987.2:c.1033G>A	1.37:g.112524316C>T	ENSP00000319591:p.Gly345Ser					KCND3_ENST00000315987.2_Missense_Mutation_p.G345S|KCND3_ENST00000302127.4_Missense_Mutation_p.G345S	p.G345S			Q9UK17	KCND3_HUMAN		all cancers(265;0.056)|Lung(183;0.0576)|Colorectal(144;0.1)|Epithelial(280;0.104)|COAD - Colon adenocarcinoma(174;0.222)|LUSC - Lung squamous cell carcinoma(189;0.231)	1	1102	-		all_cancers(81;8.52e-06)|all_epithelial(167;5.65e-06)|all_lung(203;2.72e-05)|Lung NSC(69;4.56e-05)	345					O60576|O60577|Q14D71|Q5T0M0|Q9UH85|Q9UH86|Q9UK16	Missense_Mutation	SNP	ENST00000315987.2	37	c.1033G>A	CCDS843.1	.	.	.	.	.	.	.	.	.	.	C	17.74	3.463151	0.63513	.	.	ENSG00000171385	ENST00000369697;ENST00000315987;ENST00000302127	D;D;D	0.98835	-5.17;-5.17;-5.17	5.49	5.49	0.81192	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.96703	0.8924	L	0.45285	1.41	0.80722	D	1	B;B	0.29766	0.256;0.132	B;B	0.36418	0.224;0.224	D	0.95657	0.8712	10	0.40728	T	0.16	.	18.9601	0.92674	0.0:1.0:0.0:0.0	.	345;345	Q14D71;Q9UK17	.;KCND3_HUMAN	S	345	ENSP00000358711:G345S;ENSP00000319591:G345S;ENSP00000306923:G345S	ENSP00000306923:G345S	G	-	1	0	KCND3	112325839	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.818000	0.86416	2.579000	0.87056	0.655000	0.94253	GGC		0.527	KCND3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000033144.1	NM_172198		35	39	0	0	0	1	0	35	39					T	112524316	C	T	112524316	3	4	60	1	0	0	0	0	1	0	0	0	8020	623	22	3	962	3	KCND3	1	112524316	Missense_Mutation	SNP	C	TCGA-EJ-5511-01A-01D-1576-08	20677777	112524316	136726305	4	3063											
PDE4DIP	9659	broad.mit.edu	37	chr1	145015938	145015938	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aaggaatatgtctgcacaaaCgggaccttttcaccacttct	12	11	7	11	1	3	0	1	0	2	0	3	2	3	2	2	2	2	1	2	2	4	4	rs144857876	byFrequency	TCGA-EJ-5511-01A-01D-1576-08	TCGA-EJ-5511-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e536fb66-cd30-4a00-9c66-ca13be6fe4b1	4452049f-29f1-46b3-92c6-41ebe5c50439	g.chr1:145015938C>T	ENST00000530740.1	-	3	401	c.363G>A	c.(361-363)ccG>ccA	p.P121P	PDE4DIP_ENST00000369359.4_Silent_p.P121P|PDE4DIP_ENST00000313382.9_Silent_p.P50P|PDE4DIP_ENST00000478649.2_Silent_p.P50P|PDE4DIP_ENST00000369348.3_Silent_p.P121P|PDE4DIP_ENST00000493130.2_Silent_p.P50P|RP11-326G21.1_ENST00000610119.1_RNA			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	0					cellular protein complex assembly (GO:0043623)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|myofibril (GO:0030016)|nucleus (GO:0005634)	enzyme binding (GO:0019899)	p.P121P(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		TCTGCACAAACGGGACCTTTT	0.443			T	PDGFRB	MPD																																	ENST00000369359.4				Dom	yes		1	1q12	9659	T	phosphodiesterase 4D interacting protein (myomegalin)			L	PDGFRB		MPD		1	Substitution - coding silent(1)	p.P121P(1)	prostate(1)	NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176						c.(361-363)ccG>ccA		phosphodiesterase 4D interacting protein		C	,	1,4405		0,1,2202	338	381	366		150,363	-9.6	0	1	dbSNP_134	366	1,8599		0,1,4299	no	coding-synonymous,coding-synonymous	PDE4DIP	NM_001198832.1,NM_022359.5	,	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	,	50/2241,121/311	145015938	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	9659				cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding	g.chr1:145015938C>T	AB007923, AB007946	CCDS72887.1, CCDS72888.1, CCDS72889.1, CCDS72890.1, CCDS72891.1, CCDS72892.1, CCDS72893.1, CCDS72894.1	1q21.1	2008-07-31	2008-07-31		ENSG00000178104	ENSG00000178104			15580	protein-coding gene	gene with protein product	"myomegalin"	608117	"cardiomyopathy associated 2"	CMYA2		9455484, 11134006	Standard	NM_022359		Approved	KIAA0477, KIAA0454, MMGL	uc021ouh.1	Q5VU43	OTTHUMG00000013846	ENST00000530740.1:c.363G>A	1.37:g.145015938C>T						PDE4DIP_ENST00000369348.3_Silent_p.P121P|PDE4DIP_ENST00000313382.9_Silent_p.P50P|PDE4DIP_ENST00000493130.2_Silent_p.P50P|PDE4DIP_ENST00000478649.2_Silent_p.P50P|PDE4DIP_ENST00000530740.1_Silent_p.P121P	p.P121P			Q5VU43	MYOME_HUMAN		Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)	3	401	-			0					A2RU15|O75042|O75065|Q2YDC1|Q5VU42|Q5VU44|Q5VU45|Q5VU46|Q5VU47|Q5VU48|Q5VU49|Q68DU2|Q6AZ93|Q6PK88|Q86T40|Q86TB2|Q8N3W0|Q8TAY9|Q9HCP2|Q9HCP3|Q9HCP4|Q9HCP5	Silent	SNP	ENST00000530740.1	37	c.363G>A																																																																																					0.443	PDE4DIP-036	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000384663.2	NM_022359		73	518	0	0	0	1	0	73	518					T	145015938	C	T	145015938	2	4	60	1	0	0	0	0	0	0	0	1	11643	523	19	1		1	PDE4DIP	1	145015938	Silent	SNP	C	TCGA-EJ-5511-01A-01D-1576-08	32491622	145015938	104234683	5	3064											
KCNH1	3756	broad.mit.edu	37	chr1	210977309	210977309	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gagctcctcatcctccttacCttctctgtgtcaatgcctct	5	15	5	16	0	4	0	2	0	2	0	8	1	7	0	5	0	3	1	5	0	2	2			TCGA-EJ-5511-01A-01D-1576-08	TCGA-EJ-5511-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e536fb66-cd30-4a00-9c66-ca13be6fe4b1	4452049f-29f1-46b3-92c6-41ebe5c50439	g.chr1:210977309C>A	ENST00000271751.4	-	8	1689	c.1662G>T	c.(1660-1662)aaG>aaT	p.K554N	KCNH1_ENST00000367007.4_Splice_Site_p.K527N			O95259	KCNH1_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 1	554					myoblast fusion (GO:0007520)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	nucleus (GO:0005634)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|phosphorelay sensor kinase activity (GO:0000155)	p.K554N(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|lung(35)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185)		TCCTCCTTACCTTCTCTGTGT	0.488																																						ENST00000367007.4																			2	Substitution - Missense(2)	p.K554N(2)	prostate(1)|central_nervous_system(1)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|lung(35)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	68						c.e8+1		potassium voltage-gated channel, subfamily H (eag-related), member 1							156	143	147					1																	210977309		2203	4300	6503	SO:0001630	splice_region_variant	3756				myoblast fusion|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	calmodulin binding|delayed rectifier potassium channel activity|two-component sensor activity	g.chr1:210977309C>A	AJ001366	CCDS1496.1, CCDS31015.1	1q32.2	2012-07-05			ENSG00000143473	ENSG00000143473		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6250	protein-coding gene	gene with protein product		603305				9738473, 16382104	Standard	NM_172362		Approved	Kv10.1, eag, h-eag, eag1	uc001hib.2	O95259	OTTHUMG00000036309	ENST00000271751.4:c.1662+1G>T	1.37:g.210977309C>A						KCNH1_ENST00000271751.4_Splice_Site_p.K554_splice	p.K527_splice	NM_002238.3|NM_172362.2	NP_002229.1|NP_758872.1	O95259	KCNH1_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185)	8	1750	-			554					B1AQ26|O76035|Q14CL3	Splice_Site	SNP	ENST00000271751.4	37	c.1581_splice	CCDS1496.1	.	.	.	.	.	.	.	.	.	.	C	28.8	4.951997	0.92660	.	.	ENSG00000143473	ENST00000271751;ENST00000367007	D;D	0.96802	-4.13;-4.13	5.6	5.6	0.85130	Cyclic nucleotide-binding-like (1);	0.042734	0.85682	N	0.000000	D	0.97570	0.9204	M	0.71581	2.175	0.80722	D	1	D;D	0.56287	0.957;0.975	P;P	0.60345	0.822;0.873	D	0.97157	0.9835	9	.	.	.	.	19.6055	0.95580	0.0:1.0:0.0:0.0	.	527;554	Q14CL3;O95259	.;KCNH1_HUMAN	N	554;527	ENSP00000271751:K554N;ENSP00000355974:K527N	.	K	-	3	2	KCNH1	209043932	1.000000	0.71417	1.000000	0.80357	0.908000	0.53690	7.525000	0.81892	2.645000	0.89757	0.511000	0.50034	AAG		0.488	KCNH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088332.1	NM_002238	Missense_Mutation	68	113	1	0	5.22007e-41	1	6.1933e-41	68	113					A	210977309	C	A	210977309	5	1	60	1	0	0	0	0	0	0	1	0	8031	695	24	5	1323	5	KCNH1	1	210977309	Splice_Site	SNP	C	TCGA-EJ-5511-01A-01D-1576-08	65961371	210977309	38273312	6	3065											
ARID4B	51742	broad.mit.edu	37	chr1	235345290	235345317	+	Frame_Shift_Del	DEL	CACTGGGTGAACAACTCTCCTCTTCAGC	CACTGGGTGAACAACTCTCCTCTTCAGC	-																															aggtggtttttctagttctaCactgggtgaacaactctcct																								rs148934238	byFrequency	TCGA-EJ-5511-01A-01D-1576-08	TCGA-EJ-5511-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e536fb66-cd30-4a00-9c66-ca13be6fe4b1	4452049f-29f1-46b3-92c6-41ebe5c50439	g.chr1:235345290_235345317delCACTGGGTGAACAACTCTCCTCTTCAGC	ENST00000264183.3	-	20	3414_3441	c.2917_2944delGCTGAAGAGGAGAGTTGTTCACCCAGTG	c.(2917-2946)gctgaagaggagagttgttcacccagtgtafs	p.AEEESCSPSV973fs	ARID4B_ENST00000366603.2_Frame_Shift_Del_p.AEEESCSPSV973fs|ARID4B_ENST00000494543.1_5'Flank|ARID4B_ENST00000349213.3_Frame_Shift_Del_p.AEEESCSPSV887fs	NM_016374.5	NP_057458.4	Q4LE39	ARI4B_HUMAN	AT rich interactive domain 4B (RBP1-like)	973					histone H3-K9 trimethylation (GO:0036124)|histone H4-K20 trimethylation (GO:0034773)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.V982L(1)		NS(1)|breast(2)|large_intestine(2)|lung(1)|ovary(2)	8	Ovarian(103;0.0473)|Breast(184;0.23)	all_cancers(173;0.000782)|Prostate(94;0.0132)|all_epithelial(177;0.0808)|Lung SC(1967;0.24)	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)			TCTAGTTCTACACTGGGTGAACAACTCTCCTCTTCAGCCACAGTCTGC	0.487																																						ENST00000264183.3																			1	Substitution - Missense(1)	p.V982L(1)	lung(1)	NS(1)|breast(2)|large_intestine(2)|lung(1)|ovary(2)	8						c.(2917-2946)tafs		AT rich interactive domain 4B (RBP1-like)																																				SO:0001589	frameshift_variant	51742				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding	g.chr1:235345290_235345317delCACTGGGTGAACAACTCTCCTCTTCAGC	AF214114	CCDS31060.1, CCDS31061.1	1q42.1-q43	2013-02-07	2006-11-08	2004-01-30	ENSG00000054267	ENSG00000054267		"-"	15550	protein-coding gene	gene with protein product		609696	"retinoblastoma binding protein 1-like 1", "AT rich interactive domain 4B (RBP1- like)"	RBP1L1		11481388	Standard	NM_016374		Approved	BCAA, BRCAA1, SAP180	uc001hwq.3	Q4LE39	OTTHUMG00000039621	ENST00000264183.3:c.2917_2944delGCTGAAGAGGAGAGTTGTTCACCCAGTG	1.37:g.235345290_235345317delCACTGGGTGAACAACTCTCCTCTTCAGC	ENSP00000264183:p.Ala973fs					ARID4B_ENST00000366603.2_Frame_Shift_Del_p.AEEESCSPSV973fs|ARID4B_ENST00000349213.3_Frame_Shift_Del_p.AEEESCSPSV887fs	p.AEEESCSPSV973fs	NM_016374.5	NP_057458.4	Q4LE39	ARI4B_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)		20	3414_3441	-	Ovarian(103;0.0473)|Breast(184;0.23)	all_cancers(173;0.000782)|Prostate(94;0.0132)|all_epithelial(177;0.0808)|Lung SC(1967;0.24)	973					A1L465|Q3MHV4|Q5HY99|Q5T2C2|Q5T2C3|Q5T2C4|Q5T2C5|Q5T2C6|Q6P600|Q86UX1|Q86WR4|Q9H915|Q9NYU3|Q9NZB6|Q9NZG4|Q9P2W4|Q9UF62|Q9Y6E1	Frame_Shift_Del	DEL	ENST00000264183.3	37	c.2917_2944delGCTGAAGAGGAGAGTTGTTCACCCAGTG	CCDS31061.1																																																																																				0.487	ARID4B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095566.3	NM_016374		21	202						21	202	---	---	---	---	-	235345317	CACTGGGTGAACAACTCTCCTCTTCAGC	-	235345290	7	5	60	1	0	1	0	1	0	0	0	0	920	478	17	0	1014	0	ARID4B	1	235345290	Frame_Shift_Del	DEL	CACTGGGTGAACAACTCTCCTCTTCAGC	TCGA-EJ-5511-01A-01D-1576-08	24367981	235345290	13905331	7	3066											
TTN	7273	broad.mit.edu	37	chr2	179425049	179425050	+	Frame_Shift_Ins	INS	-	-	T																															actcttagatcataaactggINSttttttgtttacacgcaccc																										TCGA-EJ-5511-01A-01D-1576-08	TCGA-EJ-5511-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e536fb66-cd30-4a00-9c66-ca13be6fe4b1	4452049f-29f1-46b3-92c6-41ebe5c50439	g.chr2:179425049_179425050insT	ENST00000591111.1	-	276	81110_81111	c.80886_80887insA	c.(80884-80889)aaaccafs	p.P26963fs	TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Frame_Shift_Ins_p.P19731fs|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000589042.1_Frame_Shift_Ins_p.P28604fs|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Frame_Shift_Ins_p.P19664fs|TTN_ENST00000460472.2_Frame_Shift_Ins_p.P19539fs|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342992.6_Frame_Shift_Ins_p.P26036fs|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000585451.1_RNA			Q8WZ42	TITIN_HUMAN	titin	26963	Fibronectin type-III 96. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCATAAACTGGTTTTTTGTTTA	0.406																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(85807-85812)aacagtfs		titin																																				SO:0001589	frameshift_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179425049_179425050insT	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.80887dupA	2.37:g.179425055_179425055dupT	ENSP00000465570:p.Pro26963fs					TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Frame_Shift_Ins_p.NS26962fs|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000342175.6_Frame_Shift_Ins_p.NS19730fs|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000359218.5_Frame_Shift_Ins_p.NS19663fs|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000342992.6_Frame_Shift_Ins_p.NS26035fs|TTN_ENST00000460472.2_Frame_Shift_Ins_p.NS19538fs	p.NS28603fs	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		326	86033_86034	-			26962			Fibronectin type-III 108.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Frame_Shift_Ins	INS	ENST00000591111.1	37	c.85809_85810insA																																																																																					0.406	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		15	98						15	98	---	---	---	---	T	179425050	-	T	179425049	7	5	60	1	0	1	1	0	0	0	0	0	16732	1261	44	0	22317	0	TTN	2	179425049	Frame_Shift_Ins	INS	-	TCGA-EJ-5511-01A-01D-1576-08		179425049	63774324	8	3067											
C2orf67	151050	broad.mit.edu	37	chr2	210968826	210968826	+	Splice_Site	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gatatccttactttgactttAcctgtttttcgatgtttcga	7	20	6	8	2	0	1	0	1	0	0	3	4	1	1	2	0	2	2	2	0	3	8			TCGA-EJ-5511-01A-01D-1576-08	TCGA-EJ-5511-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e536fb66-cd30-4a00-9c66-ca13be6fe4b1	4452049f-29f1-46b3-92c6-41ebe5c50439	g.chr2:210968826A>C	ENST00000281772.9	-	4	1692		c.e4+1		KANSL1L_ENST00000457374.1_Splice_Site|KANSL1L_ENST00000418791.1_Splice_Site|KANSL1L_ENST00000452086.1_Splice_Site	NM_152519.2	NP_689732.2	A0AUZ9	KAL1L_HUMAN	KAT8 regulatory NSL complex subunit 1-like							histone acetyltransferase complex (GO:0000123)		p.?(1)									CTTTGACTTTACCTGTTTTTC	0.368																																						ENST00000281772.9																			1	Unknown(1)	p.?(1)	prostate(1)								c.e4+1		KAT8 regulatory NSL complex subunit 1-like							88	82	84					2																	210968826		2203	4300	6503	SO:0001630	splice_region_variant	151050							g.chr2:210968826A>C	AK074441	CCDS33370.1	2q34	2012-02-20	2012-02-20	2012-02-20	ENSG00000144445	ENSG00000144445			26310	protein-coding gene	gene with protein product	"KIAA1267-like"	613833	"chromosome 2 open reading frame 67"	C2orf67		12477932	Standard	NM_152519		Approved	FLJ23861, FLJ32349, MSL1v2, KIAA1267L	uc002vds.3	A0AUZ9	OTTHUMG00000154697	ENST00000281772.9:c.1428+1T>G	2.37:g.210968826A>C						KANSL1L_ENST00000457374.1_Splice_Site|KANSL1L_ENST00000452086.1_Splice_Site|KANSL1L_ENST00000418791.1_Splice_Site		NM_152519.2	NP_689732.2	A0AUZ9	CB067_HUMAN			4	1692	-								B7ZLN1|I6L9A8|Q53TV8|Q53TW3|Q6IS05|Q8TCI1|Q96MI0|Q9UFC3	Splice_Site	SNP	ENST00000281772.9	37		CCDS33370.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	18.79|18.79	3.699044|3.699044	0.68501|0.68501	.|.	.|.	ENSG00000144445|ENSG00000144445	ENST00000281772;ENST00000418791;ENST00000457374;ENST00000452086;ENST00000428655;ENST00000438563|ENST00000415553	.|.	.|.	.|.	5.45|5.45	5.45|5.45	0.79879|0.79879	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	15.809|15.809	0.78543|0.78543	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|.	.|.	.|.	.|E	-1|196	.|.	.|.	.|X	-|-	.|1	.|0	C2orf67|C2orf67	210677071|210677071	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.981000|0.981000	0.71138|0.71138	6.695000|6.695000	0.74593|0.74593	2.193000|2.193000	0.70182|0.70182	0.477000|0.477000	0.44152|0.44152	.|TAA		0.368	KANSL1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336633.3	NM_152519	Intron	7	79	0	0	0	1	0	7	79					C	210968826	A	C	210968826	5	2	60	1	0	0	0	0	0	0	1	0	2186	405	14	5	1581	5	C2orf67	2	210968826	Splice_Site	SNP	A	TCGA-EJ-5511-01A-01D-1576-08	31543777	210968826	32230547	9	3068											
DGKD	8527	broad.mit.edu	37	chr2	234296911	234296912	+	Frame_Shift_Ins	INS	-	-	A																															tgtactttcagaccatcatcINSaaagaggggatgctgaccaa																										TCGA-EJ-5511-01A-01D-1576-08	TCGA-EJ-5511-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e536fb66-cd30-4a00-9c66-ca13be6fe4b1	4452049f-29f1-46b3-92c6-41ebe5c50439	g.chr2:234296911_234296912insA	ENST00000264057.2	+	2	177_178	c.165_166insA	c.(166-168)aaafs	p.K56fs	DGKD_ENST00000409813.3_Frame_Shift_Ins_p.K12fs|AC019221.4_ENST00000442524.1_RNA|DGKD_ENST00000489613.1_3'UTR	NM_152879.2	NP_690618.2	Q16760	DGKD_HUMAN	diacylglycerol kinase, delta 130kDa	56	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				blood coagulation (GO:0007596)|cell growth (GO:0016049)|diacylglycerol metabolic process (GO:0046339)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|multicellular organismal development (GO:0007275)|platelet activation (GO:0030168)|protein homooligomerization (GO:0051260)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein transport (GO:0015031)|response to organic substance (GO:0010033)|second-messenger-mediated signaling (GO:0019932)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol binding (GO:0019992)|diacylglycerol kinase activity (GO:0004143)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(13)|lung(15)|ovary(1)|pancreas(1)|skin(1)	38		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0538)		Epithelial(121;1.31e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000416)|Lung(119;0.00285)|LUSC - Lung squamous cell carcinoma(224;0.00655)	Phosphatidylserine(DB00144)	AGACCATCATCAAAGAGGGGAT	0.441																																						ENST00000264057.2																			0				central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(13)|lung(15)|ovary(1)|pancreas(1)|skin(1)	38						c.(163-168)ataagafs		diacylglycerol kinase, delta 130kDa	Phosphatidylserine(DB00144)																																			SO:0001589	frameshift_variant	8527				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell growth|diacylglycerol metabolic process|endocytosis|epidermal growth factor receptor signaling pathway|multicellular organismal development|platelet activation|protein homooligomerization|protein transport|response to organic substance|second-messenger-mediated signaling	cytoplasm|cytoplasmic membrane-bounded vesicle|plasma membrane	ATP binding|diacylglycerol binding|diacylglycerol kinase activity|metal ion binding|protein heterodimerization activity|protein homodimerization activity	g.chr2:234296911_234296912insA	D63479	CCDS2504.1, CCDS46546.1	2q37	2013-01-10	2002-08-29		ENSG00000077044	ENSG00000077044		"Sterile alpha motif (SAM) domain containing", "Pleckstrin homology (PH) domain containing"	2851	protein-coding gene	gene with protein product	"diglyceride kinase"	601826	"diacylglycerol kinase, delta (130kD)"			8626538, 12810723	Standard	NM_003648		Approved	KIAA0145, DGKdelta	uc002vui.1	Q16760	OTTHUMG00000133290	ENST00000264057.2:c.168dupA	2.37:g.234296914_234296914dupA	ENSP00000264057:p.Lys56fs					DGKD_ENST00000409813.3_Frame_Shift_Ins_p.R12fs|DGKD_ENST00000489613.1_3'UTR|AC019221.4_ENST00000442524.1_RNA	p.R56fs	NM_152879.2	NP_690618.2	Q16760	DGKD_HUMAN		Epithelial(121;1.31e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000416)|Lung(119;0.00285)|LUSC - Lung squamous cell carcinoma(224;0.00655)	2	177_178	+		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0538)	56			PH.		Q14158|Q6PK55|Q8NG53	Frame_Shift_Ins	INS	ENST00000264057.2	37	c.165_166insA	CCDS2504.1																																																																																				0.441	DGKD-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257072.2	NM_003648		15	159						15	159	---	---	---	---	A	234296912	-	A	234296911	7	5	60	1	0	1	1	0	0	0	0	0	4467	816	29	0	195	0	DGKD	2	234296911	Frame_Shift_Ins	INS	-	TCGA-EJ-5511-01A-01D-1576-08	23328085	234296911	8902462	10	3069											
SLC25A20	788	broad.mit.edu	37	chr3	48896044	48896044	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cagcacatctctgaaaccatTaggatatttcccaggaggtg	12	10	9	10	0	1	1	0	1	1	0	3	3	2	3	2	3	2	1	2	3	3	3			TCGA-EJ-5511-01A-01D-1576-08	TCGA-EJ-5511-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e536fb66-cd30-4a00-9c66-ca13be6fe4b1	4452049f-29f1-46b3-92c6-41ebe5c50439	g.chr3:48896044T>G	ENST00000319017.4	-	8	937	c.739A>C	c.(739-741)Aat>Cat	p.N247H	SLC25A20_ENST00000430379.1_Missense_Mutation_p.N174H|SLC25A20_ENST00000544097.1_Missense_Mutation_p.N197H	NM_000387.5	NP_000378.1	O43772	MCAT_HUMAN	solute carrier family 25 (carnitine/acylcarnitine translocase), member 20	247					carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)		p.N247H(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(5)|prostate(1)	13				BRCA - Breast invasive adenocarcinoma(193;0.000168)|Kidney(197;0.00231)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)	L-Carnitine(DB00583)	CTGAAACCATTAGGATATTTC	0.493																																						ENST00000319017.4																			1	Substitution - Missense(1)	p.N247H(1)	prostate(1)	endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(5)|prostate(1)	13						c.(739-741)Aat>Cat		solute carrier family 25 (carnitine/acylcarnitine translocase), member 20	L-Carnitine(DB00583)						108	102	104					3																	48896044		2203	4300	6503	SO:0001583	missense	788				carnitine shuttle|cellular lipid metabolic process|regulation of fatty acid oxidation	integral to membrane|mitochondrial inner membrane	acyl carnitine transporter activity	g.chr3:48896044T>G	Y10319	CCDS2779.1	3p21.31	2013-05-22			ENSG00000178537	ENSG00000178537		"Solute carriers"	1421	protein-coding gene	gene with protein product	"carnitine-acylcarnitine carrier", "carnitine/acylcarnitine translocase"	613698		CACT		9399886, 9533014	Standard	NM_000387		Approved	CAC	uc003cva.4	O43772	OTTHUMG00000133538	ENST00000319017.4:c.739A>C	3.37:g.48896044T>G	ENSP00000326305:p.Asn247His					SLC25A20_ENST00000430379.1_Missense_Mutation_p.N174H|SLC25A20_ENST00000544097.1_Missense_Mutation_p.N197H	p.N247H	NM_000387.5	NP_000378.1	O43772	MCAT_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000168)|Kidney(197;0.00231)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)	8	937	-			247					B2R7F4|Q9UIQ2	Missense_Mutation	SNP	ENST00000319017.4	37	c.739A>C	CCDS2779.1	.	.	.	.	.	.	.	.	.	.	T	11.46	1.646741	0.29246	.	.	ENSG00000178537	ENST00000430379;ENST00000319017;ENST00000544097	T;T;T	0.79653	-1.29;-1.29;-1.29	5.65	5.65	0.86999	Mitochondrial carrier domain (2);	0.085364	0.85682	D	0.000000	T	0.76219	0.3957	L	0.49455	1.56	0.80722	D	1	B;B	0.06786	0.001;0.0	B;B	0.18263	0.021;0.005	T	0.70579	-0.4833	10	0.22706	T	0.39	-18.3215	15.5433	0.76074	0.0:0.0:0.0:1.0	.	174;247	C9JPE1;O43772	.;MCAT_HUMAN	H	174;247;197	ENSP00000388986:N174H;ENSP00000326305:N247H;ENSP00000438731:N197H	ENSP00000326305:N247H	N	-	1	0	SLC25A20	48871048	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	3.858000	0.55979	2.158000	0.67659	0.528000	0.53228	AAT		0.493	SLC25A20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257516.2	NM_000387		82	126	0	0	0	1	0	82	126					G	48896044	T	G	48896044	3	3	60	1	0	0	0	0	1	0	0	0	14483	1754	61	5	174	5	SLC25A20	3	48896044	Missense_Mutation	SNP	T	TCGA-EJ-5511-01A-01D-1576-08		48896044	149126386	11	3070											
ABHD10	55347	broad.mit.edu	37	chr3	111705862	111705863	+	Frame_Shift_Ins	INS	-	-	ACCTTAG																															gtgtagctacagctgcagatINSaccttagtgacaaagtttaa																										TCGA-EJ-5511-01A-01D-1576-08	TCGA-EJ-5511-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e536fb66-cd30-4a00-9c66-ca13be6fe4b1	4452049f-29f1-46b3-92c6-41ebe5c50439	g.chr3:111705862_111705863insACCTTAG	ENST00000273359.3	+	4	567_568	c.540_541insACCTTAG	c.(541-543)accfs	p.-181fs	ABHD10_ENST00000534857.1_Frame_Shift_Ins_p.-24fs|ABHD10_ENST00000494817.1_Frame_Shift_Ins_p.-181fs	NM_018394.2	NP_060864.1	Q9NUJ1	ABHDA_HUMAN	abhydrolase domain containing 10						glucuronoside catabolic process (GO:0019391)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)			large_intestine(2)|lung(7)|skin(1)	10						CAGCTGCAGATACCTTAGTGAC	0.441																																						ENST00000273359.3																			0				large_intestine(2)|lung(7)|skin(1)	10						c.(538-543)gaccttfs		abhydrolase domain containing 10																																				SO:0001589	frameshift_variant	55347					mitochondrion	serine-type peptidase activity	g.chr3:111705862_111705863insACCTTAG	AL713726	CCDS2963.1, CCDS63718.1	3q13.2	2012-03-26			ENSG00000144827	ENSG00000144827		"Abhydrolase domain containing"	25656	protein-coding gene	gene with protein product						22294686	Standard	NM_018394		Approved	FLJ11342	uc003dyk.5	Q9NUJ1	OTTHUMG00000159280	ENST00000273359.3:c.541_547dupACCTTAG	3.37:g.111705863_111705869dupACCTTAG	ENSP00000273359:p.Thr181fs					ABHD10_ENST00000494817.1_Frame_Shift_Ins_p.DL180fs|ABHD10_ENST00000534857.1_Frame_Shift_Ins_p.DL23fs	p.DL180fs	NM_018394.2	NP_060864.1	Q9NUJ1	ABHDA_HUMAN			4	567_568	+			180					B7Z6A8|C9IZX5|D3DN63|Q8TCF9	Frame_Shift_Ins	INS	ENST00000273359.3	37	c.540_541insACCTTAG	CCDS2963.1																																																																																				0.441	ABHD10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354326.1	NM_018394		12	134						12	134	---	---	---	---	ACCTTAG	111705863	-	ACCTTAG	111705862	7	5	60	1	0	1	1	0	0	0	0	0	74	1403	49	0	554	0	ABHD10	3	111705862	Frame_Shift_Ins	INS	-	TCGA-EJ-5511-01A-01D-1576-08	62809818	111705862	86316568	12	3071											
STXBP5L	9515	broad.mit.edu	37	chr3	121137219	121137219	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caggaaaagcatcccgcagcCttgcgcaacacattcctgga	12	6	9	14	2	0	0	0	0	0	0	2	2	2	2	3	2	4	3	3	2	3	2			TCGA-EJ-5511-01A-01D-1576-08	TCGA-EJ-5511-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e536fb66-cd30-4a00-9c66-ca13be6fe4b1	4452049f-29f1-46b3-92c6-41ebe5c50439	g.chr3:121137219C>A	ENST00000273666.6	+	27	3605	c.3334C>A	c.(3334-3336)Ctt>Att	p.L1112I	STXBP5L_ENST00000471454.1_Missense_Mutation_p.L1088I	NM_014980.2	NP_055795.1	Q9Y2K9	STB5L_HUMAN	syntaxin binding protein 5-like	1112					exocytosis (GO:0006887)|glucose homeostasis (GO:0042593)|negative regulation of insulin secretion (GO:0046676)|positive regulation of protein secretion (GO:0050714)|protein transport (GO:0015031)|regulation of exocytosis (GO:0017157)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.L1112I(1)		NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				GBM - Glioblastoma multiforme(114;0.0694)		ATCCCGCAGCCTTGCGCAACA	0.483																																						ENST00000273666.6																			1	Substitution - Missense(1)	p.L1112I(1)	prostate(1)	NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68						c.(3334-3336)Ctt>Att		syntaxin binding protein 5-like							47	51	49					3																	121137219		1955	4161	6116	SO:0001583	missense	9515				exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane		g.chr3:121137219C>A	AB023223	CCDS43137.1	3q13.33-q21.1	2013-01-10			ENSG00000145087	ENSG00000145087		"WD repeat domain containing"	30757	protein-coding gene	gene with protein product		609381				10231032, 14767561	Standard	NM_014980		Approved	KIAA1006, LLGL4	uc003eec.4	Q9Y2K9	OTTHUMG00000159426	ENST00000273666.6:c.3334C>A	3.37:g.121137219C>A	ENSP00000273666:p.Leu1112Ile					STXBP5L_ENST00000471454.1_Missense_Mutation_p.L1088I	p.L1112I	NM_014980.2	NP_055795.1	Q9Y2K9	STB5L_HUMAN		GBM - Glioblastoma multiforme(114;0.0694)	27	3605	+			1112					Q4G1B4|Q6PIC3	Missense_Mutation	SNP	ENST00000273666.6	37	c.3334C>A	CCDS43137.1	.	.	.	.	.	.	.	.	.	.	C	12.68	2.010201	0.35415	.	.	ENSG00000145087	ENST00000273666;ENST00000471454;ENST00000471262	T;T;T	0.23552	1.9;1.9;1.96	5.35	5.35	0.76521	.	0.000000	0.64402	D	0.000001	T	0.22085	0.0532	N	0.25031	0.7	0.80722	D	1	P;P	0.46912	0.886;0.886	B;B	0.42738	0.396;0.396	T	0.01781	-1.1275	10	0.25106	T	0.35	-12.8273	19.0738	0.93151	0.0:1.0:0.0:0.0	.	1088;1112	E9PFI2;Q9Y2K9	.;STB5L_HUMAN	I	1112;1088;1055	ENSP00000273666:L1112I;ENSP00000420019:L1088I;ENSP00000420167:L1055I	ENSP00000273666:L1112I	L	+	1	0	STXBP5L	122619909	1.000000	0.71417	1.000000	0.80357	0.850000	0.48378	4.919000	0.63383	2.512000	0.84698	0.655000	0.94253	CTT		0.483	STXBP5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355256.3			4	42	1	0	0.00909568	1	0.00950295	4	42					A	121137219	C	A	121137219	3	1	60	1	0	0	0	0	1	0	0	0	15356	681	24	5	3436	5	STXBP5L	3	121137219	Missense_Mutation	SNP	C	TCGA-EJ-5511-01A-01D-1576-08	9431357	121137219	76885211	13	3072											
FAM190A	401145	broad.mit.edu	37	chr4	91229663	91229663	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttccaccataagaaggggagTgagcctaagcaagagcctac	14	6	11	10	0	0	3	0	1	0	2	1	4	1	4	4	2	4	1	4	2	5	4			TCGA-EJ-5511-01A-01D-1576-08	TCGA-EJ-5511-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e536fb66-cd30-4a00-9c66-ca13be6fe4b1	4452049f-29f1-46b3-92c6-41ebe5c50439	g.chr4:91229663T>C	ENST00000509176.1	+	2	516	c.228T>C	c.(226-228)agT>agC	p.S76S	CCSER1_ENST00000432775.2_Silent_p.S76S|CCSER1_ENST00000333691.8_Silent_p.S76S	NM_001145065.1	NP_001138537.1	Q9C0I3	CCSE1_HUMAN	coiled-coil serine-rich protein 1	76								p.S76S(2)									AGAAGGGGAGTGAGCCTAAGC	0.458																																						ENST00000509176.1																			2	Substitution - coding silent(2)	p.S76S(2)	prostate(2)								c.(226-228)agT>agC		coiled-coil serine-rich protein 1							154	144	147					4																	91229663		1951	4157	6108	SO:0001819	synonymous_variant	401145							g.chr4:91229663T>C		CCDS47099.1, CCDS47100.1	4q22.1	2012-12-03	2012-12-03	2012-12-03	ENSG00000184305	ENSG00000184305			29349	protein-coding gene	gene with protein product			"family with sequence similarity 190, member A"	FAM190A		11214970	Standard	NM_001145065		Approved	KIAA1680	uc003hsv.4	Q9C0I3	OTTHUMG00000160950	ENST00000509176.1:c.228T>C	4.37:g.91229663T>C						CCSER1_ENST00000432775.2_Silent_p.S76S|CCSER1_ENST00000333691.8_Silent_p.S76S	p.S76S	NM_001145065.1	NP_001138537.1					2	516	+								Q4W5M0|Q86V57	Silent	SNP	ENST00000509176.1	37	c.228T>C	CCDS47099.1																																																																																				0.458	CCSER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363109.3	NM_001145065		53	86	0	0	0	1	0	53	86					C	91229663	T	C	91229663	2	2	60	1	0	0	0	0	0	0	0	1	5521	1693	59	4		4	FAM190A	4	91229663	Silent	SNP	T	TCGA-EJ-5511-01A-01D-1576-08		91229663	99924613	14	3073											
FST	10468	broad.mit.edu	37	chr5	52780040	52780040	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctgtgggaatgatggagtcaCctactccagtgcctgccacc	8	9	11	13	0	1	1	1	1	0	0	2	3	2	3	5	2	3	0	5	2	2	1			TCGA-EJ-5511-01A-01D-1576-08	TCGA-EJ-5511-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e536fb66-cd30-4a00-9c66-ca13be6fe4b1	4452049f-29f1-46b3-92c6-41ebe5c50439	g.chr5:52780040C>A	ENST00000256759.3	+	4	1021	c.638C>A	c.(637-639)aCc>aAc	p.T213N	FST_ENST00000396947.3_Missense_Mutation_p.T213N	NM_013409.2	NP_037541.1	P19883	FST_HUMAN	follistatin	213	Kazal-like 2. {ECO:0000255|PROSITE- ProRule:PRU00798}.				BMP signaling pathway (GO:0030509)|female gonad development (GO:0008585)|gamete generation (GO:0007276)|hair follicle morphogenesis (GO:0031069)|hematopoietic progenitor cell differentiation (GO:0002244)|keratinocyte proliferation (GO:0043616)|negative regulation of activin receptor signaling pathway (GO:0032926)|negative regulation of cell differentiation (GO:0045596)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|odontogenesis of dentin-containing tooth (GO:0042475)|pattern specification process (GO:0007389)|positive regulation of hair follicle development (GO:0051798)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|nucleus (GO:0005634)	activin binding (GO:0048185)|signal transducer activity (GO:0004871)	p.T213N(1)		breast(1)|endometrium(1)|large_intestine(4)|lung(7)|prostate(1)|urinary_tract(1)	15		Ovarian(174;1.78e-06)|Lung NSC(810;3.55e-06)|Breast(144;4.08e-05)				GATGGAGTCACCTACTCCAGT	0.502																																						ENST00000396947.3																			1	Substitution - Missense(1)	p.T213N(1)	prostate(1)	breast(1)|endometrium(1)|large_intestine(4)|lung(7)|prostate(1)|urinary_tract(1)	15						c.(637-639)aCc>aAc		follistatin							134	123	127					5																	52780040		2203	4300	6503	SO:0001583	missense	10468				hemopoietic progenitor cell differentiation|negative regulation of activin receptor signaling pathway|negative regulation of follicle-stimulating hormone secretion|negative regulation of transcription from RNA polymerase II promoter|positive regulation of hair follicle development	extracellular region	activin binding|protein binding|signal transducer activity	g.chr5:52780040C>A	M19481	CCDS3959.1, CCDS43315.1	5q11.2	2008-02-05			ENSG00000134363	ENSG00000134363			3971	protein-coding gene	gene with protein product		136470				10411917, 3380788	Standard	NM_006350		Approved	FS	uc003jpd.3	P19883	OTTHUMG00000131183	ENST00000256759.3:c.638C>A	5.37:g.52780040C>A	ENSP00000256759:p.Thr213Asn					FST_ENST00000256759.3_Missense_Mutation_p.T213N	p.T213N	NM_006350.3	NP_006341.1	P19883	FST_HUMAN			4	804	+		Ovarian(174;1.78e-06)|Lung NSC(810;3.55e-06)|Breast(144;4.08e-05)	213			Kazal-like 2.		B5BU94|Q9BTH0	Missense_Mutation	SNP	ENST00000256759.3	37	c.638C>A	CCDS3959.1	.	.	.	.	.	.	.	.	.	.	C	27.3	4.815127	0.90790	.	.	ENSG00000134363	ENST00000256759;ENST00000511025;ENST00000396947;ENST00000504226	T;T;T	0.08546	3.08;3.08;3.08	6.17	6.17	0.99709	Proteinase inhibitor I1, Kazal (2);	0.189908	0.56097	D	0.000021	T	0.28167	0.0695	M	0.88775	2.98	0.58432	D	0.999998	P	0.52463	0.953	P	0.49252	0.604	T	0.05517	-1.0880	10	0.87932	D	0	-29.0041	20.8794	0.99867	0.0:1.0:0.0:0.0	.	213	P19883	FST_HUMAN	N	213;213;213;85	ENSP00000256759:T213N;ENSP00000380151:T213N;ENSP00000426315:T85N	ENSP00000256759:T213N	T	+	2	0	FST	52815797	0.996000	0.38824	1.000000	0.80357	0.933000	0.57130	3.073000	0.50057	2.941000	0.99782	0.655000	0.94253	ACC		0.502	FST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253906.1	NM_013409		13	95	1	0	1.61879e-10	1	1.82767e-10	13	95					A	52780040	C	A	52780040	3	1	60	1	0	0	0	0	1	0	0	0	6076	507	18	5	652	5	FST	5	52780040	Missense_Mutation	SNP	C	TCGA-EJ-5511-01A-01D-1576-08		52780040	128135220	15	3074											
SGCD	6444	broad.mit.edu	37	chr5	156184679	156184679	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggcaatatggaagccacctgCaggacagagctgagactgga	13	5	14	9	0	0	2	0	1	0	2	0	6	0	5	2	4	3	3	2	4	3	1			TCGA-EJ-5511-01A-01D-1576-08	TCGA-EJ-5511-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e536fb66-cd30-4a00-9c66-ca13be6fe4b1	4452049f-29f1-46b3-92c6-41ebe5c50439	g.chr5:156184679C>T	ENST00000435422.3	+	7	1147	c.660C>T	c.(658-660)tgC>tgT	p.C220C	SGCD_ENST00000337851.4_Silent_p.C221C|SGCD_ENST00000447401.1_Silent_p.C221C|SGCD_ENST00000517913.1_Silent_p.C221C	NM_001128209.1	NP_001121681.1	Q92629	SGCD_HUMAN	sarcoglycan, delta (35kDa dystrophin-associated glycoprotein)	220					muscle organ development (GO:0007517)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dystrophin-associated glycoprotein complex (GO:0016010)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sarcoglycan complex (GO:0016012)|sarcolemma (GO:0042383)		p.C221C(1)		breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(16)|prostate(1)	24	Renal(175;0.00488)	Medulloblastoma(196;0.0378)|all_neural(177;0.106)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			AAGCCACCTGCAGGACAGAGC	0.512																																						ENST00000435422.3																			1	Substitution - coding silent(1)	p.C221C(1)	prostate(1)	breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(16)|prostate(1)	24						c.(658-660)tgC>tgT		sarcoglycan, delta (35kDa dystrophin-associated glycoprotein)							69	69	69					5																	156184679		1946	4147	6093	SO:0001819	synonymous_variant	6444				cytoskeleton organization|muscle organ development	cytoplasm|cytoskeleton|integral to membrane|sarcoglycan complex|sarcolemma		g.chr5:156184679C>T	BX537948	CCDS47325.1, CCDS47326.1, CCDS47327.1	5q33-q34	2014-09-17	2002-08-29						10807	protein-coding gene	gene with protein product		601411	"sarcoglycan, delta (35kD dystrophin-associated glycoprotein)"			8776597, 8841194, 10974018	Standard	NM_000337		Approved	DAGD, LGMD2F, CMD1L	uc003lwd.4	Q92629		ENST00000435422.3:c.660C>T	5.37:g.156184679C>T						SGCD_ENST00000517913.1_Silent_p.C221C|SGCD_ENST00000447401.1_Silent_p.C221C|SGCD_ENST00000337851.4_Silent_p.C221C	p.C220C	NM_001128209.1	NP_001121681.1	Q92629	SGCD_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		7	1147	+	Renal(175;0.00488)	Medulloblastoma(196;0.0378)|all_neural(177;0.106)	220					A8K9S9|Q53XA5|Q99644	Silent	SNP	ENST00000435422.3	37	c.660C>T	CCDS47327.1																																																																																				0.512	SGCD-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000373469.3			7	12	0	0	0	1	0	7	12					T	156184679	C	T	156184679	2	4	60	1	0	0	0	0	0	0	0	1	14201	718	25	3		3	SGCD	5	156184679	Silent	SNP	C	TCGA-EJ-5511-01A-01D-1576-08	103404639	156184679	24730581	16	3075											
GFPT2	9945	broad.mit.edu	37	chr5	179731798	179731798	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggccgtgacttgctgcagggCgttctggcatttggcgaagc	5	10	16	10	3	1	1	0	1	1	0	1	2	1	1	1	4	3	4	1	4	1	3	rs552846107	byFrequency	TCGA-EJ-5511-01A-01D-1576-08	TCGA-EJ-5511-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e536fb66-cd30-4a00-9c66-ca13be6fe4b1	4452049f-29f1-46b3-92c6-41ebe5c50439	g.chr5:179731798C>T	ENST00000253778.8	-	17	1985	c.1816G>A	c.(1816-1818)Gcc>Acc	p.A606T		NM_005110.2	NP_005101.1	O94808	GFPT2_HUMAN	glutamine-fructose-6-phosphate transaminase 2	606	SIS 2. {ECO:0000255|PROSITE- ProRule:PRU00797}.				carbohydrate biosynthetic process (GO:0016051)|cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|energy reserve metabolic process (GO:0006112)|fructose 6-phosphate metabolic process (GO:0006002)|glutamine metabolic process (GO:0006541)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|UDP-N-acetylglucosamine biosynthetic process (GO:0006048)	cytosol (GO:0005829)	carbohydrate binding (GO:0030246)|glutamine-fructose-6-phosphate transaminase (isomerizing) activity (GO:0004360)	p.A606T(1)		breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34	all_cancers(89;4.97e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	Medulloblastoma(196;0.0392)|all_neural(177;0.0529)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		L-Glutamine(DB00130)	TGCTGCAGGGCGTTCTGGCAT	0.607													C|||	2	0.000399361	0	0.0014	5008	,	,		19243	0.001		0	False		,,,				2504	0					ENST00000253778.8																			1	Substitution - Missense(1)	p.A606T(1)	prostate(1)	breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34						c.(1816-1818)Gcc>Acc		glutamine-fructose-6-phosphate transaminase 2	L-Glutamine(DB00130)						137	153	148					5																	179731798		2073	4199	6272	SO:0001583	missense	9945				dolichol-linked oligosaccharide biosynthetic process|energy reserve metabolic process|fructose 6-phosphate metabolic process|glutamine metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process	cytosol	glutamine-fructose-6-phosphate transaminase (isomerizing) activity|sugar binding	g.chr5:179731798C>T	AB016789	CCDS43411.1	5q	2008-07-18			ENSG00000131459	ENSG00000131459			4242	protein-coding gene	gene with protein product	"glutamine: fructose-6-phosphate aminotransferase 2"	603865				10198162	Standard	NM_005110		Approved	GFAT2	uc003mlw.1	O94808	OTTHUMG00000163442	ENST00000253778.8:c.1816G>A	5.37:g.179731798C>T	ENSP00000253778:p.Ala606Thr						p.A606T	NM_005110.2	NP_005101.1	O94808	GFPT2_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		17	1985	-	all_cancers(89;4.97e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	Medulloblastoma(196;0.0392)|all_neural(177;0.0529)	606			SIS 2.		Q53XM2|Q9BWS4	Missense_Mutation	SNP	ENST00000253778.8	37	c.1816G>A	CCDS43411.1	.	.	.	.	.	.	.	.	.	.	C	34	5.342061	0.95783	.	.	ENSG00000131459	ENST00000253778	T	0.69175	-0.38	5.75	5.75	0.90469	Sugar isomerase (SIS) (2);	0.000000	0.85682	D	0.000000	D	0.86033	0.5836	M	0.89968	3.075	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.87483	0.2422	9	.	.	.	-30.2879	19.9421	0.97168	0.0:1.0:0.0:0.0	.	606	O94808	GFPT2_HUMAN	T	606	ENSP00000253778:A606T	.	A	-	1	0	GFPT2	179664404	1.000000	0.71417	0.885000	0.34714	0.729000	0.41735	7.711000	0.84669	2.714000	0.92807	0.561000	0.74099	GCC		0.607	GFPT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373444.4	NM_005110		23	292	0	0	0	1	0	23	292					T	179731798	C	T	179731798	3	4	60	1	0	0	0	0	1	0	0	0	6346	768	27	1	244	1	GFPT2	5	179731798	Missense_Mutation	SNP	C	TCGA-EJ-5511-01A-01D-1576-08	23547119	179731798	1183462	17	3076											
ZSCAN23	222696	broad.mit.edu	37	chr6	28403808	28403808	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gctccttggtgtgcatctctGgtctcagccactgatggcag	5	12	12	12	0	2	1	1	1	2	0	5	1	3	1	2	3	2	3	2	3	0	1	rs201915589		TCGA-EJ-5511-01A-01D-1576-08	TCGA-EJ-5511-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e536fb66-cd30-4a00-9c66-ca13be6fe4b1	4452049f-29f1-46b3-92c6-41ebe5c50439	g.chr6:28403808G>A	ENST00000289788.4	-	2	381	c.236C>T	c.(235-237)cCa>cTa	p.P79L	ZSCAN23_ENST00000486481.1_Intron	NM_001012455.1	NP_001012458.1	Q3MJ62	ZSC23_HUMAN	zinc finger and SCAN domain containing 23	79	SCAN box. {ECO:0000255|PROSITE- ProRule:PRU00187}.				transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.P79L(1)		breast(1)|prostate(1)|stomach(2)	4						GTGCATCTCTGGTCTCAGCCA	0.587																																						ENST00000289788.4																			1	Substitution - Missense(1)	p.P79L(1)	prostate(1)	breast(1)|prostate(1)|stomach(2)	4						c.(235-237)cCa>cTa		zinc finger and SCAN domain containing 23							46	45	45					6																	28403808		692	1591	2283	SO:0001583	missense	222696				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr6:28403808G>A	AK092117	CCDS47393.1	6p21.33	2013-01-08	2007-02-20	2007-02-20	ENSG00000187987	ENSG00000187987		"-", "Zinc fingers, C2H2-type"	21193	protein-coding gene	gene with protein product			"zinc finger protein 453", "zinc finger protein 390"	ZNF453, ZNF390			Standard	NM_001012455		Approved	dJ29K1.3.1	uc003nli.4	Q3MJ62	OTTHUMG00000016346	ENST00000289788.4:c.236C>T	6.37:g.28403808G>A	ENSP00000289788:p.Pro79Leu					ZSCAN23_ENST00000486481.1_Intron	p.P79L	NM_001012455.1	NP_001012458.1	Q3MJ62	ZSC23_HUMAN			2	381	-			79			SCAN box.		Q96KV9	Missense_Mutation	SNP	ENST00000289788.4	37	c.236C>T	CCDS47393.1	.	.	.	.	.	.	.	.	.	.	G	17.39	3.377724	0.61735	.	.	ENSG00000187987	ENST00000289788	T	0.11930	2.73	3.6	3.6	0.41247	Retrovirus capsid, C-terminal (1);Transcription regulator SCAN (3);	0.000000	0.46145	D	0.000305	T	0.47340	0.1440	H	0.99634	4.67	0.37202	D	0.904421	D;B	0.89917	1.0;0.43	D;B	0.81914	0.995;0.164	T	0.66056	-0.6018	10	0.87932	D	0	.	9.2864	0.37760	0.0:0.2208:0.7792:0.0	.	79;79	G3V1D5;Q3MJ62	.;ZSC23_HUMAN	L	79	ENSP00000289788:P79L	ENSP00000289788:P79L	P	-	2	0	ZSCAN23	28511787	0.983000	0.35010	0.978000	0.43139	0.998000	0.95712	3.876000	0.56115	2.272000	0.75746	0.557000	0.71058	CCA		0.587	ZSCAN23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043751.2	XM_167147		5	43	0	0	0	1	0	5	43					A	28403808	G	A	28403808	3	1	60	1	0	0	0	0	1	0	0	0	18232	1348	47	3	945	3	ZSCAN23	6	28403808	Missense_Mutation	SNP	G	TCGA-EJ-5511-01A-01D-1576-08		28403808	142711259	18	3077											
CPNE5	57699	broad.mit.edu	37	chr6	36767797	36767797	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagtaatccacaatgaacttGcgcacgaagtcaggattgag	15	8	10	8	2	1	2	1	2	0	0	2	4	2	3	1	1	2	2	1	1	5	3			TCGA-EJ-5511-01A-01D-1576-08	TCGA-EJ-5511-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e536fb66-cd30-4a00-9c66-ca13be6fe4b1	4452049f-29f1-46b3-92c6-41ebe5c50439	g.chr6:36767797G>T	ENST00000244751.2	-	4	858	c.234C>A	c.(232-234)cgC>cgA	p.R78R		NM_020939.1	NP_065990.1	Q9HCH3	CPNE5_HUMAN	copine V	78	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.					extracellular vesicular exosome (GO:0070062)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(4)|liver(1)|lung(9)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						CAATGAACTTGCGCACGAAGT	0.542																																						ENST00000244751.2																			0				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(4)|liver(1)|lung(9)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						c.(232-234)cgC>cgA		copine V							98	83	88					6																	36767797		2203	4300	6503	SO:0001819	synonymous_variant	57699							g.chr6:36767797G>T	H09181	CCDS4825.1	6p21.2	2010-05-28			ENSG00000124772	ENSG00000124772			2318	protein-coding gene	gene with protein product		604209				9430674	Standard	NM_020939		Approved	CPN5, COPN5, KIAA1599	uc003omr.1	Q9HCH3	OTTHUMG00000014602	ENST00000244751.2:c.234C>A	6.37:g.36767797G>T							p.R78R	NM_020939.1	NP_065990.1	Q9HCH3	CPNE5_HUMAN			4	858	-			78			C2 1.		Q7Z6C8	Silent	SNP	ENST00000244751.2	37	c.234C>A	CCDS4825.1																																																																																				0.542	CPNE5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040351.1	NM_020939		3	43	1	0	1	1	1	3	43					T	36767797	G	T	36767797	2	4	60	1	0	0	0	0	0	0	0	1	3815	1306	46	5		5	CPNE5	6	36767797	Silent	SNP	G	TCGA-EJ-5511-01A-01D-1576-08	8363989	36767797	134347270	19	3078											
SHPRH	257218	broad.mit.edu	37	chr6	146243842	146243842	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcggaggtgacagactgttgCagactcaataacattacgag	13	9	11	8	2	1	3	1	1	0	2	2	5	1	4	0	2	3	2	0	2	3	3			TCGA-EJ-5511-01A-01D-1576-08	TCGA-EJ-5511-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e536fb66-cd30-4a00-9c66-ca13be6fe4b1	4452049f-29f1-46b3-92c6-41ebe5c50439	g.chr6:146243842C>G	ENST00000367505.2	-	19	3940	c.3676G>C	c.(3676-3678)Gca>Cca	p.A1226P	SHPRH_ENST00000438092.2_Missense_Mutation_p.A1230P|SHPRH_ENST00000275233.7_Missense_Mutation_p.A1226P|SHPRH_ENST00000367503.3_Missense_Mutation_p.A1230P			Q149N8	SHPRH_HUMAN	SNF2 histone linker PHD RING helicase, E3 ubiquitin protein ligase	1226					DNA repair (GO:0006281)|nucleosome assembly (GO:0006334)|protein polyubiquitination (GO:0000209)	nucleosome (GO:0000786)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.A1230P(2)		breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(33)|ovary(3)|pancreas(2)|prostate(7)|skin(1)|urinary_tract(1)	79		Ovarian(120;0.0365)		OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124)		CAGACTGTTGCAGACTCAATA	0.408																																						ENST00000367503.3																			2	Substitution - Missense(2)	p.A1230P(2)	prostate(2)	breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(33)|ovary(3)|pancreas(2)|prostate(7)|skin(1)|urinary_tract(1)	79						c.(3688-3690)Gca>Cca		SNF2 histone linker PHD RING helicase, E3 ubiquitin protein ligase							90	90	90					6																	146243842		1888	4108	5996	SO:0001583	missense	257218				DNA repair|nucleosome assembly	nucleosome|nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding	g.chr6:146243842C>G	AB095943	CCDS43513.1, CCDS47496.1, CCDS43513.2	6q24.2	2012-02-23	2012-02-23		ENSG00000146414	ENSG00000146414		"RING-type (C3HC4) zinc fingers"	19336	protein-coding gene	gene with protein product		608048	"SNF2 histone linker PHD RING helicase"			12837266	Standard	NM_001042683		Approved	FLJ90837, KIAA2023, bA545I5.2	uc003qlf.3	Q149N8	OTTHUMG00000015750	ENST00000367505.2:c.3676G>C	6.37:g.146243842C>G	ENSP00000356475:p.Ala1226Pro					SHPRH_ENST00000367505.2_Missense_Mutation_p.A1226P|SHPRH_ENST00000438092.2_Missense_Mutation_p.A1230P|SHPRH_ENST00000275233.7_Missense_Mutation_p.A1226P	p.A1230P	NM_001042683.2	NP_001036148.2	Q149N8	SHPRH_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124)	19	4086	-		Ovarian(120;0.0365)	1226					Q149N9|Q5VV79|Q68DS5|Q7Z5J5|Q8IVE8|Q8IWQ9|Q8N1S8|Q8NBR7	Missense_Mutation	SNP	ENST00000367505.2	37	c.3688G>C	CCDS43513.2	.	.	.	.	.	.	.	.	.	.	C	24.7	4.555589	0.86231	.	.	ENSG00000146414	ENST00000367505;ENST00000367503;ENST00000438092;ENST00000275233	T;T;T;T	0.76968	-1.04;-1.06;-1.06;-1.04	5.2	5.2	0.72013	.	0.070689	0.56097	D	0.000029	D	0.82737	0.5102	L	0.61218	1.895	0.58432	D	0.999999	D;D;D	0.76494	0.993;0.998;0.999	P;D;D	0.70016	0.77;0.927;0.967	D	0.84256	0.0480	10	0.66056	D	0.02	-19.4657	13.9977	0.64411	0.1513:0.8487:0.0:0.0	.	425;1226;1230	B3KX98;Q149N8;Q149N8-4	.;SHPRH_HUMAN;.	P	1226;1230;1230;1226	ENSP00000356475:A1226P;ENSP00000356473:A1230P;ENSP00000412797:A1230P;ENSP00000275233:A1226P	ENSP00000275233:A1226P	A	-	1	0	SHPRH	146285535	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.738000	0.68613	2.593000	0.87608	0.650000	0.86243	GCA		0.408	SHPRH-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000042571.2	NM_173082		14	49	0	0	0	1	0	14	49					G	146243842	C	G	146243842	3	3	60	1	0	0	0	0	1	0	0	0	14291	710	25	5	1440	5	SHPRH	6	146243842	Missense_Mutation	SNP	C	TCGA-EJ-5511-01A-01D-1576-08	109476045	146243842	24871225	20	3079											
SYNE1	23345	broad.mit.edu	37	chr6	152832185	152832185	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtccacatcaatccaagaacTattgagggtcggccatcagc	12	8	9	12	1	2	2	2	1	0	1	5	2	4	2	3	2	2	0	3	2	4	2			TCGA-EJ-5511-01A-01D-1576-08	TCGA-EJ-5511-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e536fb66-cd30-4a00-9c66-ca13be6fe4b1	4452049f-29f1-46b3-92c6-41ebe5c50439	g.chr6:152832185T>A	ENST00000367255.5	-	7	964	c.363A>T	c.(361-363)atA>atT	p.I121I	SYNE1_ENST00000367248.3_Silent_p.I128I|SYNE1_ENST00000265368.4_Silent_p.I121I|SYNE1_ENST00000413186.2_Silent_p.I121I|SYNE1_ENST00000423061.1_Silent_p.I128I|SYNE1_ENST00000448038.1_Silent_p.I128I|SYNE1_ENST00000367253.4_Silent_p.I121I|SYNE1_ENST00000466159.2_Silent_p.I121I|SYNE1_ENST00000341594.5_Silent_p.I121I	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	121	Actin-binding.|CH 1. {ECO:0000255|PROSITE- ProRule:PRU00044}.				cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)	p.I121I(3)		NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		ATCCAAGAACTATTGAGGGTC	0.373										HNSCC(10;0.0054)																												ENST00000367255.5																			3	Substitution - coding silent(3)	p.I121I(3)	prostate(3)	NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524						c.(361-363)atA>atT		spectrin repeat containing, nuclear envelope 1							175	177	177					6																	152832185		2203	4300	6503	SO:0001819	synonymous_variant	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152832185T>A	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"myocyte nuclear envelope protein 1", "nuclear envelope spectrin repeat-1"	608441	"chromosome 6 open reading frame 98"	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.363A>T	6.37:g.152832185T>A		HNSCC(10;0.0054)				SYNE1_ENST00000423061.1_Silent_p.I128I|SYNE1_ENST00000413186.2_Silent_p.I121I|SYNE1_ENST00000341594.5_Silent_p.I121I|SYNE1_ENST00000448038.1_Silent_p.I128I|SYNE1_ENST00000367253.4_Silent_p.I121I|SYNE1_ENST00000265368.4_Silent_p.I121I|SYNE1_ENST00000367248.3_Silent_p.I128I|SYNE1_ENST00000466159.2_Silent_p.I121I	p.I121I	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	7	964	-		Ovarian(120;0.0955)	121			Actin-binding.|CH 1.		E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Silent	SNP	ENST00000367255.5	37	c.363A>T	CCDS5236.2																																																																																				0.373	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		27	155	0	0	0	1	0	27	155					A	152832185	T	A	152832185	2	1	60	1	0	0	0	0	0	0	0	1	15442	1512	53	5		5	SYNE1	6	152832185	Silent	SNP	T	TCGA-EJ-5511-01A-01D-1576-08	6588343	152832185	18282882	21	3080											
AKAP9	10142	broad.mit.edu	37	chr7	91712644	91712644	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgagccacttcctataaaacTgagtaagagcattgcatccc	13	10	7	11	0	0	3	0	2	0	1	2	3	2	3	3	0	4	3	3	0	4	5			TCGA-EJ-5511-01A-01D-1576-08	TCGA-EJ-5511-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e536fb66-cd30-4a00-9c66-ca13be6fe4b1	4452049f-29f1-46b3-92c6-41ebe5c50439	g.chr7:91712644T>G	ENST00000359028.2	+	34	8582	c.8357T>G	c.(8356-8358)cTg>cGg	p.L2786R	AKAP9_ENST00000358100.2_Missense_Mutation_p.L2786R|AKAP9_ENST00000356239.3_Missense_Mutation_p.L2774R			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	2786					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|Sertoli cell development (GO:0060009)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)|synaptic transmission (GO:0007268)|transport (GO:0006810)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|pericentriolar material (GO:0000242)|voltage-gated potassium channel complex (GO:0008076)	ion channel binding (GO:0044325)|protein complex scaffold (GO:0032947)|receptor binding (GO:0005102)	p.L2786R(1)|p.L2774R(1)		NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			CCTATAAAACTGAGTAAGAGC	0.388			T	BRAF	papillary thyroid																																	ENST00000359028.2				Dom	yes		7	7q21-q22	10142	T	A kinase (PRKA) anchor protein (yotiao) 9			E	BRAF		papillary thyroid		2	Substitution - Missense(2)	p.L2786R(1)|p.L2774R(1)	prostate(2)	NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155						c.(8356-8358)cTg>cGg		A kinase (PRKA) anchor protein 9							84	82	82					7																	91712644		2203	4300	6503	SO:0001583	missense	10142				G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding	g.chr7:91712644T>G	AF091711	CCDS5622.1	7q21-q22	2014-09-17	2013-09-25		ENSG00000127914	ENSG00000127914		"A-kinase anchor proteins", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	379	protein-coding gene	gene with protein product	"A-kinase anchoring protein 450", "AKAP9-BRAF fusion protein", "AKAP120-like protein", "centrosome- and golgi-localized protein kinase N-associated protein", "protein kinase A anchoring protein 9", "A-kinase anchor protein, 350kDa", "protein phosphatase 1, regulatory subunit 45", "yotiao"	604001				9482789, 10390370, 24475373	Standard	NM_147185		Approved	KIAA0803, AKAP350, AKAP450, CG-NAP, YOTIAO, HYPERION, PRKA9, MU-RMS-40.16A, PPP1R45, LQT11	uc003ulg.3	Q99996	OTTHUMG00000131127	ENST00000359028.2:c.8357T>G	7.37:g.91712644T>G	ENSP00000351922:p.Leu2786Arg					AKAP9_ENST00000356239.3_Missense_Mutation_p.L2774R|AKAP9_ENST00000358100.2_Missense_Mutation_p.L2786R	p.L2786R			Q99996	AKAP9_HUMAN	STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)		34	8582	+	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		2786					A4D1F0|A4D1F2|A4D1F4|O14869|O43355|O94895|Q75N20|Q9UQH3|Q9UQQ4|Q9Y6B8|Q9Y6Y2	Missense_Mutation	SNP	ENST00000359028.2	37	c.8357T>G		.	.	.	.	.	.	.	.	.	.	T	0.487	-0.876945	0.02550	.	.	ENSG00000127914	ENST00000356239;ENST00000359028;ENST00000358100;ENST00000413120;ENST00000394534	T;T;T;T	0.48201	0.82;0.82;0.82;0.82	4.8	-0.594	0.11664	.	1.091200	0.07305	N	0.874837	T	0.21801	0.0525	N	0.08118	0	0.09310	N	1	B;B;B;B;B	0.26483	0.15;0.09;0.054;0.09;0.09	B;B;B;B;B	0.26614	0.071;0.033;0.015;0.044;0.044	T	0.18840	-1.0324	10	0.25106	T	0.35	.	0.8603	0.01191	0.1549:0.2469:0.1596:0.4386	.	2778;2778;2786;2774;2766	F5H3X5;Q99996-6;Q99996;Q99996-2;Q99996-3	.;.;AKAP9_HUMAN;.;.	R	2774;2786;2786;2778;620	ENSP00000348573:L2774R;ENSP00000351922:L2786R;ENSP00000350813:L2786R;ENSP00000378042:L620R	ENSP00000348573:L2774R	L	+	2	0	AKAP9	91550580	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.486000	0.22340	0.007000	0.14760	0.482000	0.46254	CTG		0.388	AKAP9-202	KNOWN	basic	protein_coding	protein_coding		NM_005751		10	63	0	0	0	1	0	10	63					G	91712644	T	G	91712644	3	3	60	1	0	0	0	0	1	0	0	0	459	1580	55	5	8451	5	AKAP9	7	91712644	Missense_Mutation	SNP	T	TCGA-EJ-5511-01A-01D-1576-08		91712644	67426019	22	3081											
GIMAP7	168537	broad.mit.edu	37	chr7	150217708	150217708	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cagaggaaaggctgaaacaaCgggaagaggttttgaggaaa	17	5	15	4	1	0	4	0	2	0	2	0	7	0	7	0	5	2	2	0	5	5	2			TCGA-EJ-5511-01A-01D-1576-08	TCGA-EJ-5511-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e536fb66-cd30-4a00-9c66-ca13be6fe4b1	4452049f-29f1-46b3-92c6-41ebe5c50439	g.chr7:150217708C>T	ENST00000313543.4	+	2	803	c.646C>T	c.(646-648)Cgg>Tgg	p.R216W		NM_153236.3	NP_694968.1	Q8NHV1	GIMA7_HUMAN	GTPase, IMAP family member 7	216					GTP catabolic process (GO:0006184)	cytoplasm (GO:0005737)|lipid particle (GO:0005811)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|protein homodimerization activity (GO:0042803)	p.R216W(1)		breast(1)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	17			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GCTGAAACAACGGGAAGAGGT	0.403																																						ENST00000313543.4																			1	Substitution - Missense(1)	p.R216W(1)	prostate(1)	breast(1)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	17						c.(646-648)Cgg>Tgg		GTPase, IMAP family member 7							81	78	79					7																	150217708		2203	4300	6503	SO:0001583	missense	168537						GTP binding	g.chr7:150217708C>T	BC027613	CCDS5903.1	7q36.1	2014-04-04			ENSG00000179144	ENSG00000179144		"GTPases, IMAP"	22404	protein-coding gene	gene with protein product	"immune-associated nucleotide-binding protein 7"					15474311	Standard	NM_153236		Approved	MGC27027, IAN7	uc003whk.3	Q8NHV1	OTTHUMG00000157626	ENST00000313543.4:c.646C>T	7.37:g.150217708C>T	ENSP00000315474:p.Arg216Trp						p.R216W	NM_153236.3	NP_694968.1	Q8NHV1	GIMA7_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	2	803	+			216						Missense_Mutation	SNP	ENST00000313543.4	37	c.646C>T	CCDS5903.1	.	.	.	.	.	.	.	.	.	.	C	8.042	0.764077	0.15914	.	.	ENSG00000179144	ENST00000313543	T	0.61742	0.08	4.72	-9.45	0.00600	.	0.944773	0.08824	N	0.888344	T	0.30070	0.0753	N	0.19112	0.55	0.09310	N	1	B	0.20052	0.041	B	0.12837	0.008	T	0.19353	-1.0308	10	0.46703	T	0.11	.	1.8483	0.03163	0.3884:0.0897:0.1456:0.3764	.	216	Q8NHV1	GIMA7_HUMAN	W	216	ENSP00000315474:R216W	ENSP00000315474:R216W	R	+	1	2	GIMAP7	149848641	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.077000	0.01371	-3.814000	0.00103	-0.165000	0.13383	CGG		0.403	GIMAP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349277.1	NM_153236		28	43	0	0	0	1	0	28	43					T	150217708	C	T	150217708	3	4	60	1	0	0	0	0	1	0	0	0	6384	527	19	1	648	1	GIMAP7	7	150217708	Missense_Mutation	SNP	C	TCGA-EJ-5511-01A-01D-1576-08	58505064	150217708	8920955	23	3082											
CSMD1	64478	broad.mit.edu	37	chr8	3265577	3265577	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatgccatcatccttgaccgCgagaaagtcaaactgaggct	13	8	9	11	2	2	3	2	2	0	1	3	4	3	3	3	1	2	1	3	1	3	1			TCGA-EJ-5511-01A-01D-1576-08	TCGA-EJ-5511-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e536fb66-cd30-4a00-9c66-ca13be6fe4b1	4452049f-29f1-46b3-92c6-41ebe5c50439	g.chr8:3265577C>T	ENST00000520002.1	-	15	2473	c.1918G>A	c.(1918-1920)Gcg>Acg	p.A640T	CSMD1_ENST00000537824.1_Missense_Mutation_p.A639T|CSMD1_ENST00000400186.3_Missense_Mutation_p.A640T|CSMD1_ENST00000542608.1_Missense_Mutation_p.A639T|CSMD1_ENST00000539096.1_Missense_Mutation_p.A639T|CSMD1_ENST00000602557.1_Missense_Mutation_p.A640T|CSMD1_ENST00000602723.1_Missense_Mutation_p.A640T			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	640	CUB 4. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)		p.A639T(2)|p.A368T(2)		breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		TCCTTGACCGCGAGAAAGTCA	0.453																																						ENST00000520002.1																			4	Substitution - Missense(4)	p.A639T(2)|p.A368T(2)	prostate(2)|endometrium(2)	breast(20)|large_intestine(5)	25						c.(1918-1920)Gcg>Acg		CUB and Sushi multiple domains 1							88	79	82					8																	3265577		1921	4125	6046	SO:0001583	missense	64478					integral to membrane		g.chr8:3265577C>T			8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	14026	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 24"	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.1918G>A	8.37:g.3265577C>T	ENSP00000430733:p.Ala640Thr					CSMD1_ENST00000542608.1_Missense_Mutation_p.A639T|CSMD1_ENST00000539096.1_Missense_Mutation_p.A639T|CSMD1_ENST00000537824.1_Missense_Mutation_p.A639T|CSMD1_ENST00000602723.1_Missense_Mutation_p.A640T|CSMD1_ENST00000602557.1_Missense_Mutation_p.A640T|CSMD1_ENST00000400186.3_Missense_Mutation_p.A640T	p.A640T			Q96PZ7	CSMD1_HUMAN		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)	15	2473	-		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)	640			CUB 4.		Q0H0J5|Q96QU9|Q96RM4	Missense_Mutation	SNP	ENST00000520002.1	37	c.1918G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	4.446|4.446	0.082600|0.082600	0.08533|0.08533	.|.	.|.	ENSG00000183117|ENSG00000183117	ENST00000400186;ENST00000520002;ENST00000318252;ENST00000537824;ENST00000542608;ENST00000539096|ENST00000335551	T;T;T;T;T|.	0.18016|.	2.24;2.24;2.24;2.24;2.24|.	5.23|5.23	4.35|4.35	0.52113|0.52113	CUB (5);|.	0.236486|.	0.35936|.	N|.	0.002888|.	T|T	0.15132|0.15132	0.0365|0.0365	N|N	0.02960|0.02960	-0.455|-0.455	0.09310|0.09310	N|N	1|1	D;B|.	0.89917|.	1.0;0.003|.	D;B|.	0.87578|.	0.998;0.006|.	T|T	0.12319|0.12319	-1.0552|-1.0552	10|5	0.11485|.	T|.	0.65|.	.|.	8.025|8.025	0.30431|0.30431	0.0:0.8129:0.0:0.1871|0.0:0.8129:0.0:0.1871	.|.	640;640|.	E5RIG2;Q96PZ7|.	.;CSMD1_HUMAN|.	T|H	640;640;502;639;639;639|119	ENSP00000383047:A640T;ENSP00000430733:A640T;ENSP00000441462:A639T;ENSP00000446243:A639T;ENSP00000441675:A639T|.	ENSP00000320445:A502T|.	A|R	-|-	1|2	0|0	CSMD1|CSMD1	3252984|3252984	0.228000|0.228000	0.23718|0.23718	0.123000|0.123000	0.21794|0.21794	0.387000|0.387000	0.30353|0.30353	0.692000|0.692000	0.25482|0.25482	2.437000|2.437000	0.82529|0.82529	0.467000|0.467000	0.42956|0.42956	GCG|CGC		0.453	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000374500.2	NM_033225		8	30	0	0	0	1	0	8	30					T	3265577	C	T	3265577	3	4	60	1	0	0	0	0	1	0	0	0	3944	768	27	1	9007	1	CSMD1	8	3265577	Missense_Mutation	SNP	C	TCGA-EJ-5511-01A-01D-1576-08		3265577	143098445	24	3083											
LRP12	29967	broad.mit.edu	37	chr8	105509611	105509611	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	catcacaacgctgctgctcaGtataacacccccagttacct	11	9	5	16	1	2	0	2	0	0	0	2	0	2	0	3	0	5	5	3	0	4	3			TCGA-EJ-5511-01A-01D-1576-08	TCGA-EJ-5511-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e536fb66-cd30-4a00-9c66-ca13be6fe4b1	4452049f-29f1-46b3-92c6-41ebe5c50439	g.chr8:105509611G>T	ENST00000276654.5	-	5	1277	c.1169C>A	c.(1168-1170)aCt>aAt	p.T390N	LRP12_ENST00000518375.1_5'Flank|LRP12_ENST00000424843.2_Missense_Mutation_p.T371N	NM_013437.4	NP_038465.1	Q9Y561	LRP12_HUMAN	low density lipoprotein receptor-related protein 12	390	LDL-receptor class A 3. {ECO:0000255|PROSITE-ProRule:PRU00124}.				endocytosis (GO:0006897)|receptor-mediated endocytosis (GO:0006898)|regulation of growth (GO:0040008)|signal transduction (GO:0007165)	coated pit (GO:0005905)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	low-density lipoprotein receptor activity (GO:0005041)	p.T390N(1)		NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48			OV - Ovarian serous cystadenocarcinoma(57;1.21e-06)|STAD - Stomach adenocarcinoma(118;0.229)			CTGCTGCTCAGTATAACACCC	0.453																																						ENST00000276654.5																			1	Substitution - Missense(1)	p.T390N(1)	prostate(1)	NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48						c.(1168-1170)aCt>aAt		low density lipoprotein receptor-related protein 12							111	107	108					8																	105509611		2203	4300	6503	SO:0001583	missense	29967				endocytosis|regulation of growth	coated pit|integral to plasma membrane	low-density lipoprotein receptor activity|protein binding	g.chr8:105509611G>T	AF166350	CCDS6303.1, CCDS47907.1	8q22.2	2013-02-27	2010-01-26		ENSG00000147650	ENSG00000147650		"Low density lipoprotein receptors"	31708	protein-coding gene	gene with protein product						12809483, 14676824	Standard	NM_013437		Approved	ST7, FLJ12929	uc003yma.3	Q9Y561	OTTHUMG00000164892	ENST00000276654.5:c.1169C>A	8.37:g.105509611G>T	ENSP00000276654:p.Thr390Asn					LRP12_ENST00000424843.2_Missense_Mutation_p.T371N	p.T390N	NM_013437.4	NP_038465.1	Q9Y561	LRP12_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;1.21e-06)|STAD - Stomach adenocarcinoma(118;0.229)		5	1277	-			390			LDL-receptor class A 3.		A8K137|B4DRQ2	Missense_Mutation	SNP	ENST00000276654.5	37	c.1169C>A	CCDS6303.1	.	.	.	.	.	.	.	.	.	.	G	16.34	3.094852	0.56075	.	.	ENSG00000147650	ENST00000424843;ENST00000276654	T;T	0.58358	0.34;0.34	5.66	5.66	0.87406	.	0.091536	0.85682	D	0.000000	T	0.52645	0.1747	L	0.51422	1.61	0.80722	D	1	P;P	0.48016	0.904;0.845	B;B	0.41988	0.372;0.205	T	0.55451	-0.8139	10	0.49607	T	0.09	-21.7075	19.7495	0.96261	0.0:0.0:1.0:0.0	.	371;390	Q9Y561-2;Q9Y561	.;LRP12_HUMAN	N	371;390	ENSP00000399148:T371N;ENSP00000276654:T390N	ENSP00000276654:T390N	T	-	2	0	LRP12	105578787	1.000000	0.71417	0.682000	0.30024	0.827000	0.46813	6.387000	0.73191	2.685000	0.91497	0.455000	0.32223	ACT		0.453	LRP12-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380821.1	NM_013437		23	176	1	0	1.55795e-14	1	1.8176e-14	23	176					T	105509611	G	T	105509611	3	4	60	1	0	0	0	0	1	0	0	0	8954	1029	36	5	1422	5	LRP12	8	105509611	Missense_Mutation	SNP	G	TCGA-EJ-5511-01A-01D-1576-08	102244034	105509611	40854411	25	3084											
CSMD3	114788	broad.mit.edu	37	chr8	113585824	113585824	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtactactaagtgtcagtccGcgcatagatgcaccagtaaa	13	9	9	10	2	1	1	1	0	0	1	2	1	2	1	2	0	3	4	2	0	6	5	rs202084967		TCGA-EJ-5511-01A-01D-1576-08	TCGA-EJ-5511-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e536fb66-cd30-4a00-9c66-ca13be6fe4b1	4452049f-29f1-46b3-92c6-41ebe5c50439	g.chr8:113585824G>A	ENST00000297405.5	-	24	4192	c.3948C>T	c.(3946-3948)cgC>cgT	p.R1316R	CSMD3_ENST00000455883.2_Silent_p.R1212R|CSMD3_ENST00000352409.3_Silent_p.R1316R|CSMD3_ENST00000343508.3_Silent_p.R1276R	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1316	CUB 7. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						GTGTCAGTCCGCGCATAGATG	0.353										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			G|||	1	0.000199681	0	0	5008	,	,		15087	0.001		0	False		,,,				2504	0					ENST00000297405.5																			0				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						c.(3946-3948)cgC>cgT		CUB and Sushi multiple domains 3		G	,,	0,4406		0,0,2203	125	125	125		3636,3948,3828	-0.9	1	8		125	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous	CSMD3	NM_052900.2,NM_198123.1,NM_198124.1	,,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,,	1212/3539,1316/3708,1276/3668	113585824	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	114788					integral to membrane|plasma membrane		g.chr8:113585824G>A	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.3948C>T	8.37:g.113585824G>A		HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_ENST00000455883.2_Silent_p.R1212R|CSMD3_ENST00000343508.3_Silent_p.R1276R|CSMD3_ENST00000352409.3_Silent_p.R1316R	p.R1316R	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN			24	4192	-			1316			CUB 7.		Q96PZ3	Silent	SNP	ENST00000297405.5	37	c.3948C>T	CCDS6315.1																																																																																				0.353	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		7	235	0	0	0	1	0	7	235					A	113585824	G	A	113585824	2	1	60	1	0	0	0	0	0	0	0	1	3946	1074	38	1		1	CSMD3	8	113585824	Silent	SNP	G	TCGA-EJ-5511-01A-01D-1576-08	8076213	113585824	32778198	26	3085											
FRMPD1	22844	broad.mit.edu	37	chr9	37744991	37744991	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgctcaggcaaggccttccCaaatcttacctctatctcaa	10	11	5	15	0	4	0	2	0	3	0	6	0	5	0	3	2	2	2	3	2	5	3			TCGA-EJ-5511-01A-01D-1576-08	TCGA-EJ-5511-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e536fb66-cd30-4a00-9c66-ca13be6fe4b1	4452049f-29f1-46b3-92c6-41ebe5c50439	g.chr9:37744991C>A	ENST00000539465.1	+	16	3555	c.2962C>A	c.(2962-2964)Caa>Aaa	p.Q988K	FRMPD1_ENST00000377765.3_Missense_Mutation_p.Q988K|RP11-613M10.9_ENST00000540557.1_Intron			Q5SYB0	FRPD1_HUMAN	FERM and PDZ domain containing 1	988						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)				NS(3)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(34)|ovary(5)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	93				GBM - Glioblastoma multiforme(29;0.00655)		AAGGCCTTCCCAAATCTTACC	0.532																																						ENST00000539465.1																			0				NS(3)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(34)|ovary(5)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	93						c.(2962-2964)Caa>Aaa		FERM and PDZ domain containing 1							98	97	97					9																	37744991		2203	4300	6503	SO:0001583	missense	22844					cytoskeleton|cytosol|plasma membrane		g.chr9:37744991C>A	AB023184	CCDS6612.1	9p13.1	2008-02-05			ENSG00000070601	ENSG00000070601			29159	protein-coding gene	gene with protein product						10231032	Standard	NM_014907		Approved	KIAA0967, FRMD2	uc004aag.1	Q5SYB0	OTTHUMG00000019927	ENST00000539465.1:c.2962C>A	9.37:g.37744991C>A	ENSP00000444411:p.Gln988Lys					FRMPD1_ENST00000377765.3_Missense_Mutation_p.Q988K|RP11-613M10.9_ENST00000540557.1_Intron	p.Q988K			Q5SYB0	FRPD1_HUMAN		GBM - Glioblastoma multiforme(29;0.00655)	16	3555	+			988					B4DZC8|B7Z807|D3DRQ3|Q14C73|Q5HY96|Q9Y2H3	Missense_Mutation	SNP	ENST00000539465.1	37	c.2962C>A	CCDS6612.1	.	.	.	.	.	.	.	.	.	.	C	11.81	1.749622	0.30955	.	.	ENSG00000070601	ENST00000377765;ENST00000539465	T;T	0.06687	3.27;3.27	5.02	3.12	0.35913	.	1.793730	0.02421	N	0.082559	T	0.08537	0.0212	N	0.19112	0.55	0.09310	N	0.999998	B	0.26002	0.139	B	0.24848	0.056	T	0.34925	-0.9809	10	0.40728	T	0.16	0.2517	11.1395	0.48394	0.0:0.5392:0.4608:0.0	.	988	Q5SYB0	FRPD1_HUMAN	K	988	ENSP00000366995:Q988K;ENSP00000444411:Q988K	ENSP00000366995:Q988K	Q	+	1	0	FRMPD1	37734991	0.002000	0.14202	0.010000	0.14722	0.090000	0.18270	0.452000	0.21795	1.120000	0.41904	-0.371000	0.07208	CAA		0.532	FRMPD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402969.1	NM_014907		6	216	1	0	0.217242	1	0.220391	6	216					A	37744991	C	A	37744991	3	1	60	1	0	0	0	0	1	0	0	0	6057	595	21	5	3020	5	FRMPD1	9	37744991	Missense_Mutation	SNP	C	TCGA-EJ-5511-01A-01D-1576-08		37744991	103468440	27	3086											
ROR2	4920	broad.mit.edu	37	chr9	94486842	94486842	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agttccccagcagcttgtagTaatcggcggcatacacctct	9	10	9	13	2	1	0	0	0	1	0	3	0	2	0	3	2	3	6	3	2	3	5			TCGA-EJ-5511-01A-01D-1576-08	TCGA-EJ-5511-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e536fb66-cd30-4a00-9c66-ca13be6fe4b1	4452049f-29f1-46b3-92c6-41ebe5c50439	g.chr9:94486842T>C	ENST00000375708.3	-	9	2132	c.1934A>G	c.(1933-1935)tAc>tGc	p.Y645C	ROR2_ENST00000550066.1_5'UTR|ROR2_ENST00000375715.1_Missense_Mutation_p.Y505C	NM_004560.3	NP_004551.2	Q01974	ROR2_HUMAN	receptor tyrosine kinase-like orphan receptor 2	645	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cartilage condensation (GO:0001502)|cell differentiation (GO:0030154)|embryonic genitalia morphogenesis (GO:0030538)|inner ear morphogenesis (GO:0042472)|JNK cascade (GO:0007254)|multicellular organismal development (GO:0007275)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell migration (GO:0030335)|positive regulation of transcription, DNA-templated (GO:0045893)|signal transduction (GO:0007165)|somitogenesis (GO:0001756)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|Wnt signaling pathway, calcium modulating pathway (GO:0007223)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	clathrin-coated endocytic vesicle membrane (GO:0030669)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|Wnt-protein binding (GO:0017147)	p.Y645C(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						CAGCTTGTAGTAATCGGCGGC	0.562																																						ENST00000375708.3																			1	Substitution - Missense(1)	p.Y645C(1)	prostate(1)	autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						c.(1933-1935)tAc>tGc		receptor tyrosine kinase-like orphan receptor 2							86	77	80					9																	94486842		2203	4300	6503	SO:0001583	missense	4920				negative regulation of cell proliferation|positive regulation of cell migration|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding	g.chr9:94486842T>C	M97639	CCDS6691.1	9q22	2013-01-11			ENSG00000169071	ENSG00000169071		"Immunoglobulin superfamily / I-set domain containing"	10257	protein-coding gene	gene with protein product		602337		NTRKR2, BDB, BDB1		1334494, 10700182	Standard	NM_004560		Approved		uc004arj.2	Q01974	OTTHUMG00000020211	ENST00000375708.3:c.1934A>G	9.37:g.94486842T>C	ENSP00000364860:p.Tyr645Cys					ROR2_ENST00000550066.1_5'UTR|ROR2_ENST00000375715.1_Missense_Mutation_p.Y505C	p.Y645C	NM_004560.3	NP_004551.2	Q01974	ROR2_HUMAN			9	2132	-			645			Protein kinase.		Q59GF5|Q5SPI5|Q9HAY7|Q9HB61	Missense_Mutation	SNP	ENST00000375708.3	37	c.1934A>G	CCDS6691.1	.	.	.	.	.	.	.	.	.	.	T	16.53	3.149540	0.57151	.	.	ENSG00000169071	ENST00000375715;ENST00000375708	D;D	0.83673	-1.75;-1.75	4.86	4.86	0.63082	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.38436	N	0.001697	D	0.92057	0.7483	M	0.88310	2.945	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.93595	0.6925	10	0.87932	D	0	.	14.6483	0.68777	0.0:0.0:0.0:1.0	.	645;505	Q01974;B1APY4	ROR2_HUMAN;.	C	505;645	ENSP00000364867:Y505C;ENSP00000364860:Y645C	ENSP00000364860:Y645C	Y	-	2	0	ROR2	93526663	1.000000	0.71417	1.000000	0.80357	0.554000	0.35429	7.781000	0.85668	2.044000	0.60594	0.459000	0.35465	TAC		0.562	ROR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053040.1			23	24	0	0	0	1	0	23	24					C	94486842	T	C	94486842	3	2	60	1	0	0	0	0	1	0	0	0	13527	1638	57	4	901	4	ROR2	9	94486842	Missense_Mutation	SNP	T	TCGA-EJ-5511-01A-01D-1576-08	56741851	94486842	46726589	28	3087											
PTPN3	5774	broad.mit.edu	37	chr9	112185102	112185102	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttccacaccatcccgccaatCacctttttgcaatattggtt	9	14	4	14	1	1	0	1	0	0	0	3	0	3	0	5	1	1	2	5	1	3	6			TCGA-EJ-5511-01A-01D-1576-08	TCGA-EJ-5511-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e536fb66-cd30-4a00-9c66-ca13be6fe4b1	4452049f-29f1-46b3-92c6-41ebe5c50439	g.chr9:112185102C>T	ENST00000374541.2	-	13	1136	c.1032G>A	c.(1030-1032)gtG>gtA	p.V344V	PTPN3_ENST00000262539.3_Intron|PTPN3_ENST00000412145.1_Silent_p.V213V|PTPN3_ENST00000446349.1_Intron	NM_001145368.1|NM_002829.3	NP_001138840.1|NP_002820.3	P26045	PTN3_HUMAN	protein tyrosine phosphatase, non-receptor type 3	344					negative regulation of membrane protein ectodomain proteolysis (GO:0051045)|negative regulation of mitotic cell cycle (GO:0045930)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of membrane depolarization during action potential (GO:0098902)|regulation of sodium ion transmembrane transporter activity (GO:2000649)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoskeleton (GO:0005856)	ATPase binding (GO:0051117)|phosphotyrosine binding (GO:0001784)|protein tyrosine phosphatase activity (GO:0004725)|sodium channel regulator activity (GO:0017080)	p.V344V(2)		breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						TCCCGCCAATCACCTTTTTGC	0.463																																						ENST00000412145.1																			2	Substitution - coding silent(2)	p.V344V(2)	prostate(2)	breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						c.(637-639)gtG>gtA		protein tyrosine phosphatase, non-receptor type 3							216	199	205					9																	112185102		2203	4300	6503	SO:0001819	synonymous_variant	0				negative regulation of membrane protein ectodomain proteolysis|negative regulation of mitotic cell cycle	cytoplasm|cytoskeleton|internal side of plasma membrane	ATPase binding|cytoskeletal protein binding|phosphotyrosine binding|protein tyrosine phosphatase activity	g.chr9:112185102C>T		CCDS6776.1, CCDS48000.1, CCDS48001.1	9q31	2011-06-09			ENSG00000070159	ENSG00000070159		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"	9655	protein-coding gene	gene with protein product		176877				1648725	Standard	NM_002829		Approved	PTPH1	uc004bed.2	P26045	OTTHUMG00000020475	ENST00000374541.2:c.1032G>A	9.37:g.112185102C>T						PTPN3_ENST00000374541.2_Silent_p.V344V|PTPN3_ENST00000446349.1_Intron|PTPN3_ENST00000262539.3_Intron	p.V213V	NM_001145369.1|NM_001145371.1	NP_001138841.1|NP_001138843.1	P26045	PTN3_HUMAN			8	3192	-			344			FERM.		A0AUW9|E7EN99|E9PGU7	Silent	SNP	ENST00000374541.2	37	c.639G>A	CCDS6776.1																																																																																				0.463	PTPN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053598.4			78	117	0	0	0	1	0	78	117					T	112185102	C	T	112185102	2	4	60	1	0	0	0	0	0	0	0	1	12789	813	29	3		3	PTPN3	9	112185102	Silent	SNP	C	TCGA-EJ-5511-01A-01D-1576-08	17698260	112185102	29028329	29	3088											
RAPGEF1	2889	broad.mit.edu	37	chr9	134497351	134497351	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aacatagagggctgcggctcCgagtagtcctccagcaactg	10	7	12	12	2	0	1	0	0	0	1	3	2	3	1	3	2	4	4	3	2	4	2			TCGA-EJ-5511-01A-01D-1576-08	TCGA-EJ-5511-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e536fb66-cd30-4a00-9c66-ca13be6fe4b1	4452049f-29f1-46b3-92c6-41ebe5c50439	g.chr9:134497351C>T	ENST00000372189.3	-	11	1809	c.1686G>A	c.(1684-1686)tcG>tcA	p.S562S	RAPGEF1_ENST00000372195.1_Silent_p.S579S|RAPGEF1_ENST00000372190.3_Silent_p.S580S	NM_005312.2	NP_005303.2	Q13905	RPGF1_HUMAN	Rap guanine nucleotide exchange factor (GEF) 1	562					activation of MAPKK activity (GO:0000186)|blood vessel development (GO:0001568)|cellular response to cAMP (GO:0071320)|cellular response to nerve growth factor stimulus (GO:1990090)|establishment of endothelial barrier (GO:0061028)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of neural precursor cell proliferation (GO:2000178)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of Ras protein signal transduction (GO:0046580)|nerve growth factor signaling pathway (GO:0038180)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of neuron projection development (GO:0010976)|positive regulation of Rap GTPase activity (GO:0032854)|Rap protein signal transduction (GO:0032486)|regulation of cell junction assembly (GO:1901888)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytosol (GO:0005829)|early endosome (GO:0005769)|endosome (GO:0005768)	Rap guanyl-nucleotide exchange factor activity (GO:0017034)	p.S257S(1)|p.S580S(1)		NS(2)|breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|lung(9)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1)	39		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;2.19e-05)|Epithelial(140;0.000364)		GCTGCGGCTCCGAGTAGTCCT	0.587																																						ENST00000372195.1																			2	Substitution - coding silent(2)	p.S257S(1)|p.S580S(1)	prostate(2)	NS(2)|breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|lung(9)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1)	39						c.(1735-1737)tcG>tcA		Rap guanine nucleotide exchange factor (GEF) 1							62	71	68					9																	134497351		2088	4215	6303	SO:0001819	synonymous_variant	2889				activation of MAPKK activity|nerve growth factor receptor signaling pathway|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|endosome	guanyl-nucleotide exchange factor activity|SH3 domain binding	g.chr9:134497351C>T	BC041710	CCDS48047.1	9q34.3	2008-02-05	2004-03-01	2004-03-02	ENSG00000107263	ENSG00000107263			4568	protein-coding gene	gene with protein product		600303	"guanine nucleotide-releasing factor 2 (specific for crk proto-oncogene)"	GRF2		7959692, 7512734	Standard	NM_005312		Approved	C3G	uc022bos.1	Q13905	OTTHUMG00000020829	ENST00000372189.3:c.1686G>A	9.37:g.134497351C>T						RAPGEF1_ENST00000372190.3_Silent_p.S580S|RAPGEF1_ENST00000372189.3_Silent_p.S562S	p.S579S			Q13905	RPGF1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;2.19e-05)|Epithelial(140;0.000364)	11	1980	-		Myeloproliferative disorder(178;0.204)	562					Q5JUE4|Q8IV73	Silent	SNP	ENST00000372189.3	37	c.1737G>A	CCDS48047.1	.	.	.	.	.	.	.	.	.	.	C	8.938	0.965039	0.18583	.	.	ENSG00000107263	ENST00000419442	.	.	.	5.57	-9.5	0.00584	.	.	.	.	.	T	0.43277	0.1240	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.50215	-0.8854	4	.	.	.	.	6.0013	0.19521	0.1512:0.1826:0.075:0.5912	.	.	.	.	Q	21	.	.	R	-	2	0	RAPGEF1	133487172	0.000000	0.05858	0.465000	0.27155	0.887000	0.51463	-3.221000	0.00552	-2.056000	0.00898	-1.036000	0.02392	CGG		0.587	RAPGEF1-001	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054759.2	NM_005312		10	17	0	0	0	1	0	10	17					T	134497351	C	T	134497351	2	4	60	1	0	0	0	0	0	0	0	1	13043	639	23	2		2	RAPGEF1	9	134497351	Silent	SNP	C	TCGA-EJ-5511-01A-01D-1576-08	22312249	134497351	6716080	30	3089											
PCDH15	65217	broad.mit.edu	37	chr10	55582081	55582081	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtggtgttgggggaccagacGttgaaacggaaagtggaaaa	13	7	17	4	2	0	2	0	1	0	1	0	5	0	5	1	5	1	2	1	5	4	2			TCGA-EJ-5511-01A-01D-1576-08	TCGA-EJ-5511-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e536fb66-cd30-4a00-9c66-ca13be6fe4b1	4452049f-29f1-46b3-92c6-41ebe5c50439	g.chr10:55582081G>T	ENST00000320301.6	-	33	5799	c.5405C>A	c.(5404-5406)aCg>aAg	p.T1802K	PCDH15_ENST00000395433.1_Missense_Mutation_p.T1779K|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000361849.3_Missense_Mutation_p.T1804K|PCDH15_ENST00000395445.1_Intron|PCDH15_ENST00000395432.2_Missense_Mutation_p.T1762K|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000395430.1_Missense_Mutation_p.T1799K|PCDH15_ENST00000437009.1_Missense_Mutation_p.T1733K|PCDH15_ENST00000373965.2_Intron|PCDH15_ENST00000409834.1_Intron|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395438.1_Intron|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000414778.1_Intron	NM_033056.3	NP_149045.3	Q96QU1	PCD15_HUMAN	protocadherin-related 15	1802					equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	calcium ion binding (GO:0005509)			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				GGGACCAGACGTTGAAACGGA	0.488										HNSCC(58;0.16)																												ENST00000361849.3																			0				NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237						c.(5410-5412)aCg>aAg		protocadherin-related 15							51	44	47					10																	55582081		2202	4299	6501	SO:0001583	missense	65217				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding	g.chr10:55582081G>T	AY029205	CCDS7248.1, CCDS44400.1, CCDS44401.1, CCDS44403.1, CCDS44404.1, CCDS73134.1, CCDS73135.1, CCDS73136.1, CCDS73137.1, CCDS73138.1	10q21.1	2013-01-08	2010-01-25		ENSG00000150275	ENSG00000150275		"Cadherins / Cadherin-related"	14674	protein-coding gene	gene with protein product	"cadherin-related family member 15"	605514	"deafness, autosomal recessive 23", "protocadherin 15"	USH1F, DFNB23		11398101, 14570705	Standard	NM_033056		Approved	CDHR15	uc010qhy.1	Q96QU1	OTTHUMG00000018259	ENST00000320301.6:c.5405C>A	10.37:g.55582081G>T	ENSP00000322604:p.Thr1802Lys	HNSCC(58;0.16)				PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395438.1_Intron|PCDH15_ENST00000395445.1_Intron|PCDH15_ENST00000395430.1_Missense_Mutation_p.T1799K|PCDH15_ENST00000409834.1_Intron|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000437009.1_Missense_Mutation_p.T1733K|PCDH15_ENST00000320301.6_Missense_Mutation_p.T1802K|PCDH15_ENST00000414778.1_Intron|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000395433.1_Missense_Mutation_p.T1779K|PCDH15_ENST00000395432.2_Missense_Mutation_p.T1762K|PCDH15_ENST00000373965.2_Intron	p.T1804K	NM_001142763.1|NM_001142764.1|NM_001142765.1|NM_001142768.1	NP_001136235.1|NP_001136236.1|NP_001136237.1|NP_001136240.1	Q96QU1	PCD15_HUMAN			34	5805	-		Melanoma(3;0.117)|Lung SC(717;0.238)	1802					A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Missense_Mutation	SNP	ENST00000320301.6	37	c.5411C>A	CCDS7248.1	.	.	.	.	.	.	.	.	.	.	G	12.08	1.830453	0.32329	.	.	ENSG00000150275	ENST00000395432;ENST00000361849;ENST00000395433;ENST00000320301;ENST00000395430;ENST00000417177;ENST00000437009	T;T;T;T;T;T	0.59772	0.28;0.24;0.29;0.41;0.41;0.42	2.47	1.53	0.23141	.	.	.	.	.	T	0.33933	0.0880	N	0.08118	0	0.09310	N	1	B;B;B;B;B;B;B;B	0.10296	0.003;0.003;0.003;0.003;0.003;0.003;0.003;0.003	B;B;B;B;B;B;B;B	0.10450	0.005;0.005;0.005;0.005;0.005;0.005;0.005;0.005	T	0.19910	-1.0291	9	0.35671	T	0.21	.	7.9687	0.30115	0.1404:0.0:0.8596:0.0	.	1779;1802;1804;1809;1733;1762;1799;1802	A2A3E8;E7EMG4;A2A3E7;C9JIG1;E7EM53;E7EMG0;A2A3E6;Q96QU1	.;.;.;.;.;.;.;PCD15_HUMAN	K	1762;1804;1779;1802;1799;1809;1733	ENSP00000378820:T1762K;ENSP00000354950:T1804K;ENSP00000378821:T1779K;ENSP00000322604:T1802K;ENSP00000378818:T1799K;ENSP00000412628:T1733K	ENSP00000322604:T1802K	T	-	2	0	PCDH15	55252087	0.002000	0.14202	0.001000	0.08648	0.001000	0.01503	0.792000	0.26929	1.316000	0.45131	0.655000	0.94253	ACG		0.488	PCDH15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000048121.2	NM_033056		3	37	1	0	6.4e-05	1	7e-05	3	37					T	55582081	G	T	55582081	3	4	60	1	0	0	0	0	1	0	0	0	11511	1145	40	5	2072	5	PCDH15	10	55582081	Missense_Mutation	SNP	G	TCGA-EJ-5511-01A-01D-1576-08		55582081	79952666	31	3090											
SLIT1	6585	broad.mit.edu	37	chr10	98761035	98761035	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccacccatgacagggggcgcGtggtctggcagatggcatag	8	6	16	11	2	1	2	0	1	1	1	1	2	1	2	2	5	0	2	2	5	1	1	rs200011241	byFrequency	TCGA-EJ-5511-01A-01D-1576-08	TCGA-EJ-5511-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e536fb66-cd30-4a00-9c66-ca13be6fe4b1	4452049f-29f1-46b3-92c6-41ebe5c50439	g.chr10:98761035G>A	ENST00000266058.4	-	37	4684	c.4439C>T	c.(4438-4440)aCg>aTg	p.T1480M	ARHGAP19-SLIT1_ENST00000453547.2_3'UTR|SLIT1_ENST00000371070.4_Missense_Mutation_p.R1439C	NM_003061.2	NP_003052.2	O75093	SLIT1_HUMAN	slit homolog 1 (Drosophila)	1480	CTCK. {ECO:0000255|PROSITE- ProRule:PRU00039}.				axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|dorsal/ventral axon guidance (GO:0033563)|establishment of nucleus localization (GO:0040023)|forebrain morphogenesis (GO:0048853)|motor neuron axon guidance (GO:0008045)|negative chemotaxis (GO:0050919)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of synapse assembly (GO:0051964)|retinal ganglion cell axon guidance (GO:0031290)|spinal cord development (GO:0021510)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)	extracellular space (GO:0005615)	calcium ion binding (GO:0005509)|Roundabout binding (GO:0048495)	p.T1480M(1)		breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(37)|ovary(5)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	78		Colorectal(252;0.162)		Epithelial(162;2.02e-08)|all cancers(201;1.5e-06)		CAGGGGGCGCGTGGTCTGGCA	0.657													G|||	2	0.000399361	0	0	5008	,	,		17525	0.002		0	False		,,,				2504	0					ENST00000266058.4																			1	Substitution - Missense(1)	p.T1480M(1)	prostate(1)	breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(37)|ovary(5)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	78						c.(4438-4440)aCg>aTg		slit homolog 1 (Drosophila)							49	58	55					10																	98761035		2203	4300	6503	SO:0001583	missense	6585				axon extension involved in axon guidance|forebrain morphogenesis|motor axon guidance|negative chemotaxis|negative regulation of synaptogenesis	cytoplasm|extracellular space	calcium ion binding|Roundabout binding	g.chr10:98761035G>A	AB011537	CCDS7453.1	10q23.3-q24	2008-08-01	2001-11-28		ENSG00000187122	ENSG00000187122			11085	protein-coding gene	gene with protein product		603742	"slit (Drosophila) homolog 1"	SLIL1		9693030, 9813312	Standard	NM_003061		Approved	slit1, MEGF4, Slit-1, SLIT3	uc001kmw.2	O75093	OTTHUMG00000018843	ENST00000266058.4:c.4439C>T	10.37:g.98761035G>A	ENSP00000266058:p.Thr1480Met					SLIT1_ENST00000371070.4_Missense_Mutation_p.R1439C|ARHGAP19-SLIT1_ENST00000453547.2_3'UTR	p.T1480M	NM_003061.2	NP_003052.2	O75093	SLIT1_HUMAN		Epithelial(162;2.02e-08)|all cancers(201;1.5e-06)	37	4684	-		Colorectal(252;0.162)	1480			CTCK.		Q5T0V1|Q8WWZ2|Q9UIL7	Missense_Mutation	SNP	ENST00000266058.4	37	c.4439C>T	CCDS7453.1	1|1	4.578754578754579E-4|4.578754578754579E-4	0|0	0.0|0.0	0|0	0.0|0.0	1|1	0.0017482517482517483|0.0017482517482517483	0|0	0.0|0.0	G|G	14.78|14.78	2.638568|2.638568	0.47153|0.47153	.|.	.|.	ENSG00000187122|ENSG00000187122	ENST00000371070|ENST00000266058	D|T	0.81821|0.81247	-1.54|-1.47	5.09|5.09	4.18|4.18	0.49190|0.49190	.|Cystine knot, C-terminal (2);	.|0.100834	.|0.64402	.|N	.|0.000002	D|D	0.85383|0.85383	0.5684|0.5684	M|M	0.70275|0.70275	2.135|2.135	0.80722|0.80722	D|D	1|1	.|D	.|0.76494	.|0.999	.|P	.|0.56088	.|0.791	D|D	0.86319|0.86319	0.1691|0.1691	7|10	0.54805|0.52906	T|T	0.06|0.07	.|.	13.3881|13.3881	0.60807|0.60807	0.0754:0.0:0.9246:0.0|0.0754:0.0:0.9246:0.0	.|.	.|1480	.|O75093	.|SLIT1_HUMAN	C|M	1439|1480	ENSP00000360109:R1439C|ENSP00000266058:T1480M	ENSP00000360109:R1439C|ENSP00000266058:T1480M	R|T	-|-	1|2	0|0	SLIT1|SLIT1	98751025|98751025	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.958000|0.958000	0.62258|0.62258	6.365000|6.365000	0.73090|0.73090	1.379000|1.379000	0.46325|0.46325	0.561000|0.561000	0.74099|0.74099	CGC|ACG		0.657	SLIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049636.1	NM_003061		60	85	0	0	0	1	0	60	85					A	98761035	G	A	98761035	3	1	60	1	0	0	0	0	1	0	0	0	14739	1145	40	1	169	1	SLIT1	10	98761035	Missense_Mutation	SNP	G	TCGA-EJ-5511-01A-01D-1576-08	43178954	98761035	36773712	32	3091											
GRIA4	2893	broad.mit.edu	37	chr11	105804548	105804548	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgagggagtagctcgtgtccGcaaatccaagggcaaatttg	11	9	13	8	2	0	1	0	1	0	0	3	2	2	2	2	2	1	4	2	2	4	2	rs189218754		TCGA-EJ-5511-01A-01D-1576-08	TCGA-EJ-5511-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e536fb66-cd30-4a00-9c66-ca13be6fe4b1	4452049f-29f1-46b3-92c6-41ebe5c50439	g.chr11:105804548G>A	ENST00000530497.1	+	13	2147	c.2147G>A	c.(2146-2148)cGc>cAc	p.R716H	GRIA4_ENST00000525187.1_Missense_Mutation_p.R716H|GRIA4_ENST00000393127.2_Missense_Mutation_p.R716H|AP000673.1_ENST00000583628.1_RNA|GRIA4_ENST00000282499.5_Missense_Mutation_p.R716H			P48058	GRIA4_HUMAN	glutamate receptor, ionotropic, AMPA 4	716					glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|vesicle (GO:0031982)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)|ionotropic glutamate receptor activity (GO:0004970)	p.R716H(3)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(24)|liver(2)|lung(25)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	82		Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323)		BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899)		GCTCGTGTCCGCAAATCCAAG	0.458													G|||	0	0	0	0	5008	,	,		16927	0		0	False		,,,				2504	0					ENST00000393127.2																			3	Substitution - Missense(3)	p.R716H(3)	prostate(3)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(24)|liver(2)|lung(25)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	82						c.(2146-2148)cGc>cAc		glutamate receptor, ionotropic, AMPA 4	L-Glutamic Acid(DB00142)						78	70	73					11																	105804548		2202	4299	6501	SO:0001583	missense	0				glutamate signaling pathway|synaptic transmission	cell junction|endocytic vesicle membrane|integral to membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity	g.chr11:105804548G>A	U16129	CCDS8333.1, CCDS41706.1, CCDS41707.1	11q22	2012-08-29	2012-02-03		ENSG00000152578	ENSG00000152578		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4574	protein-coding gene	gene with protein product		138246	"glutamate receptor, ionotrophic, AMPA 4"	GLUR4			Standard	NM_001077244		Approved	GluA4, GLURD	uc001pix.2	P48058	OTTHUMG00000166236	ENST00000530497.1:c.2147G>A	11.37:g.105804548G>A	ENSP00000435775:p.Arg716His					GRIA4_ENST00000525187.1_Missense_Mutation_p.R716H|GRIA4_ENST00000282499.5_Missense_Mutation_p.R716H|GRIA4_ENST00000530497.1_Missense_Mutation_p.R716H	p.R716H	NM_001077243.2	NP_001070711.2	P48058	GRIA4_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899)	14	2593	+		Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323)	716					Q86XE8	Missense_Mutation	SNP	ENST00000530497.1	37	c.2147G>A	CCDS8333.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	23.6	4.441236	0.83993	.	.	ENSG00000152578	ENST00000282499;ENST00000393127;ENST00000530497;ENST00000525187;ENST00000539249	T;T;T;T	0.40225	1.04;1.04;1.04;1.04	5.51	4.6	0.57074	Ionotropic glutamate receptor (2);	0.000000	0.64402	D	0.000002	T	0.71787	0.3381	M	0.92507	3.315	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	T	0.79748	-0.1673	10	0.72032	D	0.01	.	14.4196	0.67175	0.0711:0.0:0.9289:0.0	.	716;716	P48058;G3V164	GRIA4_HUMAN;.	H	716;716;716;716;21	ENSP00000282499:R716H;ENSP00000376835:R716H;ENSP00000435775:R716H;ENSP00000432180:R716H	ENSP00000282499:R716H	R	+	2	0	GRIA4	105309758	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.754000	0.98908	1.330000	0.45394	0.591000	0.81541	CGC		0.458	GRIA4-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000388593.1			5	41	0	0	0	1	0	5	41					A	105804548	G	A	105804548	3	1	60	1	0	0	0	0	1	0	0	0	6770	1087	38	1	2234	1	GRIA4	11	105804548	Missense_Mutation	SNP	G	TCGA-EJ-5511-01A-01D-1576-08		105804548	29201968	33	3092											
ATM	472	broad.mit.edu	37	chr11	108192065	108192065	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agatgtgtaagcgcagccttGagtctgtgtattcgctctat	8	14	11	8	2	2	2	0	1	2	1	3	2	2	2	1	0	2	4	1	0	3	5			TCGA-EJ-5511-01A-01D-1576-08	TCGA-EJ-5511-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e536fb66-cd30-4a00-9c66-ca13be6fe4b1	4452049f-29f1-46b3-92c6-41ebe5c50439	g.chr11:108192065G>A	ENST00000452508.2	+	46	6679	c.6490G>A	c.(6490-6492)Gag>Aag	p.E2164K	C11orf65_ENST00000525729.1_Intron|ATM_ENST00000278616.4_Missense_Mutation_p.E2164K			Q13315	ATM_HUMAN	ATM serine/threonine kinase	2164	FAT. {ECO:0000255|PROSITE- ProRule:PRU00534}.		E -> K (in T-prolymphocytic leukemia). {ECO:0000269|PubMed:9288106}.		brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|DNA damage induced protein phosphorylation (GO:0006975)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|heart development (GO:0007507)|histone mRNA catabolic process (GO:0071044)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|lipoprotein catabolic process (GO:0042159)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of B cell proliferation (GO:0030889)|neuron apoptotic process (GO:0051402)|oocyte development (GO:0048599)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of neuron apoptotic process (GO:0043525)|pre-B cell allelic exclusion (GO:0002331)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reciprocal meiotic recombination (GO:0007131)|replicative senescence (GO:0090399)|response to hypoxia (GO:0001666)|response to ionizing radiation (GO:0010212)|signal transduction (GO:0007165)|signal transduction involved in mitotic G2 DNA damage checkpoint (GO:0072434)|somitogenesis (GO:0001756)|telomere maintenance (GO:0000723)	cytoplasmic vesicle (GO:0031410)|nucleoplasm (GO:0005654)|spindle (GO:0005819)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|histone serine kinase activity (GO:0035174)|protein complex binding (GO:0032403)|protein dimerization activity (GO:0046983)|protein N-terminus binding (GO:0047485)|protein serine/threonine kinase activity (GO:0004674)	p.E2164K(3)		NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	Caffeine(DB00201)	GCGCAGCCTTGAGTCTGTGTA	0.413			"D, Mis, N, F, S"		T-PLL	"leukemia, lymphoma, medulloblastoma, glioma"		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)																												ENST00000278616.4			yes	Rec	yes	Ataxia-telangiectasia	11	11q22.3	472	"D, Mis, N, F, S"	ataxia telangiectasia mutated			"L, O"		"leukemia, lymphoma, medulloblastoma, glioma"	T-PLL		3	Substitution - Missense(3)	p.E2164K(3)	prostate(2)|haematopoietic_and_lymphoid_tissue(1)	NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448						c.(6490-6492)Gag>Aag	Genes defective in diseases associated with sensitivity to DNA damaging agents	ataxia telangiectasia mutated							159	147	151					11																	108192065		2201	4298	6499	SO:0001583	missense	472	Ataxia Telangiectasia	Familial Cancer Database	AT, Louis-Bar syndrome	cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding	g.chr11:108192065G>A	AB209133	CCDS31669.1	11q22-q23	2014-09-17	2014-06-17		ENSG00000149311	ENSG00000149311			795	protein-coding gene	gene with protein product	"TEL1, telomere maintenance 1, homolog (S. cerevisiae)"	607585	"ataxia telangiectasia mutated (includes complementation groups A, C and D)", "ataxia telangiectasia mutated"	ATA, ATDC, ATC, ATD			Standard	XM_005271561		Approved	TEL1, TELO1	uc001pkb.1	Q13315	OTTHUMG00000166480	ENST00000452508.2:c.6490G>A	11.37:g.108192065G>A	ENSP00000388058:p.Glu2164Lys	TSP Lung(14;0.12)				C11orf65_ENST00000525729.1_Intron|ATM_ENST00000452508.2_Missense_Mutation_p.E2164K	p.E2164K	NM_000051.3	NP_000042.3	Q13315	ATM_HUMAN		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	45	6875	+		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)	2164		E -> K (in T-prolymphocytic leukemia).	FAT.		B2RNX5|O15429|Q12758|Q16551|Q93007|Q9NP02|Q9UCX7	Missense_Mutation	SNP	ENST00000452508.2	37	c.6490G>A	CCDS31669.1	.	.	.	.	.	.	.	.	.	.	G	36	5.795487	0.96952	.	.	ENSG00000149311	ENST00000278616;ENST00000452508	T;T	0.73047	-0.71;-0.71	5.83	5.83	0.93111	PIK-related kinase (1);PIK-related kinase, FAT (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.85048	0.5608	M	0.76002	2.32	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.85496	0.1188	10	0.72032	D	0.01	.	20.1099	0.97909	0.0:0.0:1.0:0.0	.	2164	Q13315	ATM_HUMAN	K	2164	ENSP00000278616:E2164K;ENSP00000388058:E2164K	ENSP00000278616:E2164K	E	+	1	0	ATM	107697275	1.000000	0.71417	0.997000	0.53966	0.994000	0.84299	9.055000	0.93873	2.753000	0.94483	0.585000	0.79938	GAG		0.413	ATM-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389938.1	NM_000051		66	131	0	0	0	1	0	66	131					A	108192065	G	A	108192065	3	1	60	1	0	0	0	0	1	0	0	0	1109	1291	45	3	6664	3	ATM	11	108192065	Missense_Mutation	SNP	G	TCGA-EJ-5511-01A-01D-1576-08	2387517	108192065	26814451	34	3093											
IGSF9B	22997	broad.mit.edu	37	chr11	133790584	133790584	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ttctctccattctcctcgggGatggtggggtggccaaaggg	5	11	15	10	1	2	0	0	0	2	0	6	1	3	1	3	7	0	0	3	7	1	2			TCGA-EJ-5511-01A-01D-1576-08	TCGA-EJ-5511-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e536fb66-cd30-4a00-9c66-ca13be6fe4b1	4452049f-29f1-46b3-92c6-41ebe5c50439	g.chr11:133790584G>T	ENST00000321016.8	-	18	3266	c.3036C>A	c.(3034-3036)atC>atA	p.I1012I	IGSF9B_ENST00000533871.2_Silent_p.I1012I			Q9UPX0	TUTLB_HUMAN	immunoglobulin superfamily, member 9B	1012	Pro-rich.				homophilic cell adhesion (GO:0007156)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)	dendrite (GO:0030425)|inhibitory synapse (GO:0060077)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)		p.I1012I(1)|p.I468I(1)		breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)		TCTCCTCGGGGATGGTGGGGT	0.672																																						ENST00000321016.8																			2	Substitution - coding silent(2)	p.I1012I(1)|p.I468I(1)	prostate(2)	breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						c.(3034-3036)atC>atA		immunoglobulin superfamily, member 9B							46	53	51					11																	133790584		2074	4198	6272	SO:0001819	synonymous_variant	22997					integral to membrane|plasma membrane		g.chr11:133790584G>T	AK097578	CCDS61010.1	11q25	2013-02-11	2005-10-12	2005-11-20				"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	32326	protein-coding gene	gene with protein product		613773					Standard	NM_001277285		Approved	KIAA1030	uc031qfh.1	Q9UPX0		ENST00000321016.8:c.3036C>A	11.37:g.133790584G>T						IGSF9B_ENST00000533871.2_Silent_p.I1012I	p.I1012I			Q9UPX0	TUTLB_HUMAN		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)	18	3266	-	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)	1012			Pro-rich.		G5EA26	Silent	SNP	ENST00000321016.8	37	c.3036C>A																																																																																					0.672	IGSF9B-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		XM_290502		8	109	1	0	0.000442599	1	0.000476645	8	109					T	133790584	G	T	133790584	2	4	60	1	0	0	0	0	0	0	0	1	7606	1164	41	5		5	IGSF9B	11	133790584	Silent	SNP	G	TCGA-EJ-5511-01A-01D-1576-08	25598519	133790584	1215932	35	3094											
PCDH17	27253	broad.mit.edu	37	chr13	58207456	58207456	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gcccgagaacgctccgctggGtacagtggtcatcgatctga	8	8	13	12	4	2	2	1	1	1	1	4	4	3	2	2	2	2	3	2	2	2	1			TCGA-EJ-5511-01A-01D-1576-08	TCGA-EJ-5511-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e536fb66-cd30-4a00-9c66-ca13be6fe4b1	4452049f-29f1-46b3-92c6-41ebe5c50439	g.chr13:58207456G>T	ENST00000377918.3	+	1	802	c.776G>T	c.(775-777)gGt>gTt	p.G259V		NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN	protocadherin 17	259	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.G259V(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		GCTCCGCTGGGTACAGTGGTC	0.582																																					Melanoma(72;952 1291 1619 12849 33676)	ENST00000377918.3																			1	Substitution - Missense(1)	p.G259V(1)	prostate(1)	breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120						c.(775-777)gGt>gTt		protocadherin 17							73	63	66					13																	58207456		2203	4300	6503	SO:0001583	missense	27253				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding	g.chr13:58207456G>T	AF029343	CCDS31986.1	13q21.1	2010-01-26			ENSG00000118946	ENSG00000118946		"Cadherins / Protocadherins : Non-clustered"	14267	protein-coding gene	gene with protein product		611760				10835267	Standard	NM_001040429		Approved	PCDH68, PCH68	uc001vhq.1	O14917	OTTHUMG00000016992	ENST00000377918.3:c.776G>T	13.37:g.58207456G>T	ENSP00000367151:p.Gly259Val						p.G259V	NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN		GBM - Glioblastoma multiforme(99;1.06e-05)	1	802	+		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)	259			Cadherin 3.		A8K1R5|Q5VVW9|Q5VVX0	Missense_Mutation	SNP	ENST00000377918.3	37	c.776G>T	CCDS31986.1	.	.	.	.	.	.	.	.	.	.	G	15.87	2.959476	0.53400	.	.	ENSG00000118946	ENST00000377918	T	0.70399	-0.48	4.87	4.87	0.63330	Cadherin (4);Cadherin-like (1);	0.000000	0.85682	D	0.000000	D	0.87192	0.6116	M	0.89904	3.07	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.994;0.997	D	0.89343	0.3655	9	.	.	.	.	18.2082	0.89861	0.0:0.0:1.0:0.0	.	259;259	O14917-2;O14917	.;PCD17_HUMAN	V	259	ENSP00000367151:G259V	.	G	+	2	0	PCDH17	57105457	1.000000	0.71417	1.000000	0.80357	0.575000	0.36095	9.657000	0.98554	2.558000	0.86282	0.650000	0.86243	GGT		0.582	PCDH17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045139.1	NM_001040429		35	51	1	0	2.47316e-13	1	2.83805e-13	35	51					T	58207456	G	T	58207456	3	4	60	1	0	0	0	0	1	0	0	0	11512	1261	44	5	778	5	PCDH17	13	58207456	Missense_Mutation	SNP	G	TCGA-EJ-5511-01A-01D-1576-08		58207456	56962422	36	3095											
ZNF592	9640	broad.mit.edu	37	chr15	85326137	85326137	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagaacaccagccgccaggaGtcatttgaagcggagaaaga	16	4	12	9	2	1	4	1	1	0	3	1	6	1	5	3	2	3	0	3	2	4	1			TCGA-EJ-5511-01A-01D-1576-08	TCGA-EJ-5511-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e536fb66-cd30-4a00-9c66-ca13be6fe4b1	4452049f-29f1-46b3-92c6-41ebe5c50439	g.chr15:85326137G>A	ENST00000560079.2	+	4	519	c.231G>A	c.(229-231)gaG>gaA	p.E77E	ZNF592_ENST00000299927.3_Silent_p.E77E	NM_014630.2	NP_055445.2	Q92610	ZN592_HUMAN	zinc finger protein 592	77					cell death (GO:0008219)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.E77E(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(143;0.0587)			GCCGCCAGGAGTCATTTGAAG	0.527																																						ENST00000299927.3																			1	Substitution - coding silent(1)	p.E77E(1)	prostate(1)	breast(2)|endometrium(2)|kidney(1)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	40						c.(229-231)gaG>gaA		zinc finger protein 592							80	79	79					15																	85326137		2203	4299	6502	SO:0001819	synonymous_variant	9640				cell death|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr15:85326137G>A	D86966	CCDS32317.1	15q25.2	2011-03-15				ENSG00000166716		"Zinc fingers, C2H2-type"	28986	protein-coding gene	gene with protein product		613624	"spinocerebellar ataxia, autosomal recessive 5"	SCAR5		9039502, 12030328, 20531441	Standard	NM_014630		Approved	KIAA0211, CAMOS	uc002bld.3	Q92610		ENST00000560079.2:c.231G>A	15.37:g.85326137G>A						ZNF592_ENST00000560079.2_Silent_p.E77E	p.E77E			Q92610	ZN592_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0587)		1	253	+			77					Q2M1T2|Q504Y9	Silent	SNP	ENST00000560079.2	37	c.231G>A	CCDS32317.1																																																																																				0.527	ZNF592-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418779.2	NM_014630		9	83	0	0	0	1	0	9	83					A	85326137	G	A	85326137	2	1	60	1	0	0	0	0	0	0	0	1	18019	1020	36	3		3	ZNF592	15	85326137	Silent	SNP	G	TCGA-EJ-5511-01A-01D-1576-08		85326137	17205255	37	3096											
MYO1D	4642	broad.mit.edu	37	chr17	30986138	30986138	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcagcacgttcttacctattGaaaatcgtctgcagggcctc	9	11	9	12	2	2	1	0	1	2	0	4	1	2	1	2	1	3	4	2	1	4	4			TCGA-EJ-5511-01A-01D-1576-08	TCGA-EJ-5511-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e536fb66-cd30-4a00-9c66-ca13be6fe4b1	4452049f-29f1-46b3-92c6-41ebe5c50439	g.chr17:30986138G>A	ENST00000318217.5	-	17	2644	c.2340C>T	c.(2338-2340)ttC>ttT	p.F780F	MYO1D_ENST00000394649.4_Silent_p.F692F|MYO1D_ENST00000579584.1_Silent_p.F780F|RP11-220C2.1_ENST00000582272.1_RNA	NM_015194.1	NP_056009.1	O94832	MYO1D_HUMAN	myosin ID	780					early endosome to recycling endosome transport (GO:0061502)|negative regulation of phosphatase activity (GO:0010923)	axolemma (GO:0030673)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|smooth endoplasmic reticulum (GO:0005790)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)	p.F780F(1)		breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(14)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39			BRCA - Breast invasive adenocarcinoma(9;0.0362)			CTTACCTATTGAAAATCGTCT	0.493											OREG0024311	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000318217.5																			1	Substitution - coding silent(1)	p.F780F(1)	prostate(1)	breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(14)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						c.(2338-2340)ttC>ttT		myosin ID							93	80	84					17																	30986138		2203	4300	6503	SO:0001819	synonymous_variant	4642					myosin complex	actin binding|ATP binding|calmodulin binding	g.chr17:30986138G>A	AB018270	CCDS32615.1	17q11-q12	2014-06-12				ENSG00000176658		"Myosins / Myosin superfamily : Class I"	7598	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 108"	606539				8884266	Standard	NM_015194		Approved	KIAA0727, myr4, PPP1R108	uc002hho.1	O94832		ENST00000318217.5:c.2340C>T	17.37:g.30986138G>A			OREG0024311	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	821	MYO1D_ENST00000579584.1_Silent_p.F780F|RP11-220C2.1_ENST00000582272.1_RNA|MYO1D_ENST00000394649.4_Silent_p.F692F	p.F780F	NM_015194.1	NP_056009.1	O94832	MYO1D_HUMAN	BRCA - Breast invasive adenocarcinoma(9;0.0362)		17	2644	-			780					A6H8V3|Q8NHP9	Silent	SNP	ENST00000318217.5	37	c.2340C>T	CCDS32615.1																																																																																				0.493	MYO1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447457.1			32	61	0	0	0	1	0	32	61					A	30986138	G	A	30986138	2	1	60	1	0	0	0	0	0	0	0	1	10071	1281	45	3		3	MYO1D	17	30986138	Silent	SNP	G	TCGA-EJ-5511-01A-01D-1576-08		30986138	50209072	38	3097											
GRB7	2886	broad.mit.edu	37	chr17	37898891	37898891	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccttccctgagctctgcagTcctccctcacagagcccaat	7	9	6	19	0	2	2	1	1	1	1	5	2	5	2	5	0	3	2	5	0	1	1			TCGA-EJ-5511-01A-01D-1576-08	TCGA-EJ-5511-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e536fb66-cd30-4a00-9c66-ca13be6fe4b1	4452049f-29f1-46b3-92c6-41ebe5c50439	g.chr17:37898891T>G	ENST00000309156.4	+	3	485	c.228T>G	c.(226-228)agT>agG	p.S76R	GRB7_ENST00000394209.2_Missense_Mutation_p.S76R|GRB7_ENST00000309185.3_Missense_Mutation_p.S76R|GRB7_ENST00000394204.1_Missense_Mutation_p.S76R|GRB7_ENST00000394211.3_Missense_Mutation_p.S76R|GRB7_ENST00000578702.1_3'UTR|GRB7_ENST00000445327.2_Missense_Mutation_p.S99R	NM_005310.3	NP_005301.2	Q14451	GRB7_HUMAN	growth factor receptor-bound protein 7	76					blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|leukocyte migration (GO:0050900)|negative regulation of translation (GO:0017148)|positive regulation of cell migration (GO:0030335)|positive regulation of signal transduction (GO:0009967)|stress granule assembly (GO:0034063)	cell projection (GO:0042995)|cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)|phosphatidylinositol binding (GO:0035091)|protein kinase binding (GO:0019901)|RNA binding (GO:0003723)|SH3/SH2 adaptor activity (GO:0005070)	p.S76R(2)		breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;6.86e-60)|all cancers(3;1.65e-53)|BRCA - Breast invasive adenocarcinoma(8;2.03e-43)|STAD - Stomach adenocarcinoma(3;1.43e-12)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			AGCTCTGCAGTCCTCCCTCAC	0.632																																						ENST00000309156.4																			2	Substitution - Missense(2)	p.S76R(2)	prostate(2)	breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						c.(226-228)agT>agG		growth factor receptor-bound protein 7							63	71	68					17																	37898891		2200	4299	6499	SO:0001583	missense	2886				blood coagulation|epidermal growth factor receptor signaling pathway|leukocyte migration|negative regulation of translation|positive regulation of cell migration|stress granule assembly	cytosol|focal adhesion|stress granule	phosphatidylinositol binding|protein kinase binding|SH3/SH2 adaptor activity	g.chr17:37898891T>G	D43772	CCDS11345.1, CCDS56028.1	17q12	2013-02-14			ENSG00000141738	ENSG00000141738		"Pleckstrin homology (PH) domain containing", "SH2 domain containing"	4567	protein-coding gene	gene with protein product		601522					Standard	NM_005310		Approved		uc021twu.1	Q14451	OTTHUMG00000133253	ENST00000309156.4:c.228T>G	17.37:g.37898891T>G	ENSP00000310771:p.Ser76Arg					GRB7_ENST00000394204.1_Missense_Mutation_p.S76R|GRB7_ENST00000394209.2_Missense_Mutation_p.S76R|GRB7_ENST00000445327.2_Missense_Mutation_p.S99R|GRB7_ENST00000578702.1_3'UTR|GRB7_ENST00000394211.3_Missense_Mutation_p.S76R|GRB7_ENST00000309185.3_Missense_Mutation_p.S76R	p.S76R	NM_005310.3	NP_005301.2	Q14451	GRB7_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;6.86e-60)|all cancers(3;1.65e-53)|BRCA - Breast invasive adenocarcinoma(8;2.03e-43)|STAD - Stomach adenocarcinoma(3;1.43e-12)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)		3	485	+	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		76					B2RAV1|B3KNL0|B3KWP9|B7WP75|J3KQM4|Q53YD3|Q92568|Q96DF9|Q9Y220	Missense_Mutation	SNP	ENST00000309156.4	37	c.228T>G	CCDS11345.1	.	.	.	.	.	.	.	.	.	.	T	10.88	1.475817	0.26511	.	.	ENSG00000141738	ENST00000309185;ENST00000309156;ENST00000394211;ENST00000394209;ENST00000445327;ENST00000394204	T;T;T;T;T;T	0.46819	0.86;0.86;0.86;0.86;0.86;0.86	5.14	0.0179	0.14114	.	0.078748	0.85682	D	0.000000	T	0.56156	0.1966	L	0.59436	1.845	0.43550	D	0.995854	D;P	0.67145	0.996;0.551	D;B	0.63793	0.918;0.152	T	0.55655	-0.8107	10	0.54805	T	0.06	-16.0535	9.5031	0.39031	0.0:0.5386:0.0:0.4614	.	76;76	Q14451-2;Q14451	.;GRB7_HUMAN	R	76;76;76;76;99;76	ENSP00000311752:S76R;ENSP00000310771:S76R;ENSP00000377761:S76R;ENSP00000377759:S76R;ENSP00000403459:S99R;ENSP00000377754:S76R	ENSP00000310771:S76R	S	+	3	2	GRB7	35152417	0.357000	0.24938	0.997000	0.53966	0.655000	0.38815	-0.488000	0.06497	0.267000	0.21916	-0.366000	0.07423	AGT		0.632	GRB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257024.2	NM_005310		60	109	0	0	0	1	0	60	109					G	37898891	T	G	37898891	3	3	60	1	0	0	0	0	1	0	0	0	6759	1664	58	5	234	5	GRB7	17	37898891	Missense_Mutation	SNP	T	TCGA-EJ-5511-01A-01D-1576-08	6912753	37898891	43296319	39	3098											
ETV4	2118	broad.mit.edu	37	chr17	41611325	41611325	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggactctggggctccttcttGatcctggtggtggggctgtg	2	13	17	9	0	2	1	0	1	2	0	4	2	4	2	2	7	0	2	2	7	0	2			TCGA-EJ-5511-01A-01D-1576-08	TCGA-EJ-5511-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e536fb66-cd30-4a00-9c66-ca13be6fe4b1	4452049f-29f1-46b3-92c6-41ebe5c50439	g.chr17:41611325G>A	ENST00000319349.5	-	6	583	c.285C>T	c.(283-285)atC>atT	p.I95I	ETV4_ENST00000545954.1_Silent_p.I56I|ETV4_ENST00000393664.2_Silent_p.I95I|ETV4_ENST00000591713.1_Silent_p.I95I|ETV4_ENST00000545089.1_Silent_p.I95I|ETV4_ENST00000538265.1_Silent_p.I56I	NM_001079675.2	NP_001073143.1	P43268	ETV4_HUMAN	ets variant 4	95					branching involved in mammary gland duct morphogenesis (GO:0060444)|cell differentiation (GO:0030154)|motor neuron axon guidance (GO:0008045)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of branching involved in mammary gland duct morphogenesis (GO:0060762)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell differentiation (GO:0048863)|transcription from RNA polymerase II promoter (GO:0006366)	nucleolus (GO:0005730)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)	p.I95I(1)	EWSR1/ETV4(6)|CANT1/ETV4(3)|TMPRSS2/ETV4(13)|DDX5_ENST00000540698/ETV4(2)|KLK2/ETV4(2)	ovary(2)|upper_aerodigestive_tract(1)	3		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.0798)		GCTCCTTCTTGATCCTGGTGG	0.627			T	"EWSR1, TMPRSS2, DDX5, KLK2, CANT1"	"Ewing sarcoma, Prostate carcinoma"																																Esophageal Squamous(116;1540 1611 12927 31103 34118)	ENST00000319349.5				Dom	yes		17	17q21	2118	T	"ets variant gene 4 (E1A enhancer binding protein, E1AF)"			"M, E"	"EWSR1, TMPRSS2, DDX5, KLK2, CANT1"		"Ewing sarcoma, Prostate carcinoma"	EWSR1/ETV4(6)|CANT1/ETV4(3)|TMPRSS2/ETV4(13)|DDX5_ENST00000540698/ETV4(2)|KLK2/ETV4(2)	1	Substitution - coding silent(1)	p.I95I(1)	prostate(1)	ovary(2)|upper_aerodigestive_tract(1)	3						c.(283-285)atC>atT		ets variant 4							32	39	37					17																	41611325		2203	4300	6503	SO:0001819	synonymous_variant	2118				positive regulation of transcription, DNA-dependent	nucleolus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr17:41611325G>A	U18018	CCDS11465.1, CCDS58553.1, CCDS59292.1	17q21	2014-04-30	2008-09-12			ENSG00000175832			3493	protein-coding gene	gene with protein product	"E1A enhancer binding protein"	600711	"ets variant gene 4 (E1A enhancer-binding protein, E1AF)"			8530053, 1547944	Standard	NM_001986		Approved	E1A-F, E1AF, PEA3	uc002idw.3	P43268		ENST00000319349.5:c.285C>T	17.37:g.41611325G>A						ETV4_ENST00000545954.1_Silent_p.I56I|ETV4_ENST00000545089.1_Silent_p.I95I|ETV4_ENST00000538265.1_Silent_p.I56I|ETV4_ENST00000393664.2_Silent_p.I95I|ETV4_ENST00000591713.1_Silent_p.I95I	p.I95I	NM_001079675.2	NP_001073143.1	P43268	ETV4_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.0798)	6	583	-		Breast(137;0.00908)	95					A8K314|B7Z5J3|B7Z9J6|Q96AW9	Silent	SNP	ENST00000319349.5	37	c.285C>T	CCDS11465.1																																																																																				0.627	ETV4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453489.1	NM_001986		37	18	0	0	0	1	0	37	18					A	41611325	G	A	41611325	2	1	60	1	0	0	0	0	0	0	0	1	5281	1280	45	3		3	ETV4	17	41611325	Silent	SNP	G	TCGA-EJ-5511-01A-01D-1576-08	3712434	41611325	39583885	40	3099											
FZD2	2535	broad.mit.edu	37	chr17	42635479	42635479	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cgcctgcgctgcgagcacttCccgcgccacggcgccgagca	5	4	13	19	8	0	0	0	0	0	0	1	2	1	0	4	1	4	3	4	1	0	1			TCGA-EJ-5511-01A-01D-1576-08	TCGA-EJ-5511-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e536fb66-cd30-4a00-9c66-ca13be6fe4b1	4452049f-29f1-46b3-92c6-41ebe5c50439	g.chr17:42635479C>T	ENST00000315323.3	+	1	555	c.423C>T	c.(421-423)ttC>ttT	p.F141F		NM_001466.3	NP_001457.1	Q14332	FZD2_HUMAN	frizzled class receptor 2	141	FZ. {ECO:0000255|PROSITE- ProRule:PRU00090}.				axonogenesis (GO:0007409)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|cell-cell signaling (GO:0007267)|cochlea morphogenesis (GO:0090103)|epithelial cell differentiation (GO:0030855)|G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:0007199)|gonad development (GO:0008406)|hard palate development (GO:0060022)|inner ear receptor cell development (GO:0060119)|membranous septum morphogenesis (GO:0003149)|muscular septum morphogenesis (GO:0003150)|neuron differentiation (GO:0030182)|outflow tract morphogenesis (GO:0003151)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of cGMP metabolic process (GO:0030825)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription, DNA-templated (GO:0045893)|sensory perception of smell (GO:0007608)|vasculature development (GO:0001944)|Wnt signaling pathway, calcium modulating pathway (GO:0007223)	apical part of cell (GO:0045177)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|neuron projection membrane (GO:0032589)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)	p.F141F(1)		central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(8)	33		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.189)		GCGAGCACTTCCCGCGCCACG	0.711																																						ENST00000315323.3																			1	Substitution - coding silent(1)	p.F141F(1)	prostate(1)	central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(8)	33						c.(421-423)ttC>ttT		frizzled family receptor 2							28	31	30					17																	42635479		2200	4297	6497	SO:0001819	synonymous_variant	2535				axonogenesis|brain development|canonical Wnt receptor signaling pathway|epithelial cell differentiation|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|positive regulation of cGMP metabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway	apical part of cell|cytoplasm|integral to membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding	g.chr17:42635479C>T	L37882	CCDS11484.1	17q21.1	2014-01-29	2014-01-29			ENSG00000180340		"GPCR / Class F : Frizzled receptors"	4040	protein-coding gene	gene with protein product		600667	"frizzled (Drosophila) homolog 2", "frizzled homolog 2 (Drosophila)", "frizzled 2, seven transmembrane spanning receptor", "frizzled family receptor 2"			7558010, 9813155	Standard	NM_001466		Approved		uc002igx.2	Q14332		ENST00000315323.3:c.423C>T	17.37:g.42635479C>T							p.F141F	NM_001466.3	NP_001457.1	Q14332	FZD2_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.189)	1	555	+		Prostate(33;0.0181)	141			FZ.		Q0VG82	Silent	SNP	ENST00000315323.3	37	c.423C>T	CCDS11484.1																																																																																				0.711	FZD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457806.1	NM_001466		36	45	0	0	0	1	0	36	45					T	42635479	C	T	42635479	2	4	60	1	0	0	0	0	0	0	0	1	6130	854	30	3		3	FZD2	17	42635479	Silent	SNP	C	TCGA-EJ-5511-01A-01D-1576-08	1024154	42635479	38559731	41	3100			1	11		7	7	1021	C		3.875655e-20
FZD2	2535	broad.mit.edu	37	chr17	42635653	42635653	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gccacgctggagcaccccttCcactgcccgcgcgtcctcaa	6	6	9	20	4	1	0	1	0	0	0	3	1	3	1	6	1	2	2	6	1	1	1			TCGA-EJ-5511-01A-01D-1576-08	TCGA-EJ-5511-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e536fb66-cd30-4a00-9c66-ca13be6fe4b1	4452049f-29f1-46b3-92c6-41ebe5c50439	g.chr17:42635653C>A	ENST00000315323.3	+	1	729	c.597C>A	c.(595-597)ttC>ttA	p.F199L		NM_001466.3	NP_001457.1	Q14332	FZD2_HUMAN	frizzled class receptor 2	199					axonogenesis (GO:0007409)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|cell-cell signaling (GO:0007267)|cochlea morphogenesis (GO:0090103)|epithelial cell differentiation (GO:0030855)|G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:0007199)|gonad development (GO:0008406)|hard palate development (GO:0060022)|inner ear receptor cell development (GO:0060119)|membranous septum morphogenesis (GO:0003149)|muscular septum morphogenesis (GO:0003150)|neuron differentiation (GO:0030182)|outflow tract morphogenesis (GO:0003151)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of cGMP metabolic process (GO:0030825)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription, DNA-templated (GO:0045893)|sensory perception of smell (GO:0007608)|vasculature development (GO:0001944)|Wnt signaling pathway, calcium modulating pathway (GO:0007223)	apical part of cell (GO:0045177)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|neuron projection membrane (GO:0032589)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)	p.F199L(1)		central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(8)	33		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.189)		AGCACCCCTTCCACTGCCCGC	0.741																																						ENST00000315323.3																			1	Substitution - Missense(1)	p.F199L(1)	prostate(1)	central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(8)	33						c.(595-597)ttC>ttA		frizzled family receptor 2							10	10	10					17																	42635653		2189	4268	6457	SO:0001583	missense	2535				axonogenesis|brain development|canonical Wnt receptor signaling pathway|epithelial cell differentiation|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|positive regulation of cGMP metabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway	apical part of cell|cytoplasm|integral to membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding	g.chr17:42635653C>A	L37882	CCDS11484.1	17q21.1	2014-01-29	2014-01-29			ENSG00000180340		"GPCR / Class F : Frizzled receptors"	4040	protein-coding gene	gene with protein product		600667	"frizzled (Drosophila) homolog 2", "frizzled homolog 2 (Drosophila)", "frizzled 2, seven transmembrane spanning receptor", "frizzled family receptor 2"			7558010, 9813155	Standard	NM_001466		Approved		uc002igx.2	Q14332		ENST00000315323.3:c.597C>A	17.37:g.42635653C>A	ENSP00000323901:p.Phe199Leu						p.F199L	NM_001466.3	NP_001457.1	Q14332	FZD2_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.189)	1	729	+		Prostate(33;0.0181)	199					Q0VG82	Missense_Mutation	SNP	ENST00000315323.3	37	c.597C>A	CCDS11484.1	.	.	.	.	.	.	.	.	.	.	c	13.32	2.202175	0.38905	.	.	ENSG00000180340	ENST00000541149;ENST00000315323	T	0.73258	-0.73	4.33	4.33	0.51752	.	0.000000	0.85682	D	0.000000	T	0.60051	0.2239	L	0.36672	1.1	0.52501	D	0.999957	P	0.41748	0.761	B	0.41332	0.354	T	0.59397	-0.7462	10	0.33940	T	0.23	.	10.2078	0.43124	0.0:0.9063:0.0:0.0937	.	199	Q14332	FZD2_HUMAN	L	275;199	ENSP00000323901:F199L	ENSP00000323901:F199L	F	+	3	2	FZD2	39991179	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.997000	0.57016	1.938000	0.56188	0.561000	0.74099	TTC		0.741	FZD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457806.1	NM_001466		4	5	1	0	0.00116845	1	0.00123926	4	5					A	42635653	C	A	42635653	3	1	60	1	0	0	0	0	1	0	0	0	6130	854	30	5	599	5	FZD2	17	42635653	Missense_Mutation	SNP	C	TCGA-EJ-5511-01A-01D-1576-08	174	42635653	38559557	42	3101			1	11		7	7	1021	C		3.875655e-20
FZD2	2535	broad.mit.edu	37	chr17	42635702	42635702	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cctatctcagctacaagtttCtgggcgagcgtgattgtgct	7	13	11	10	2	2	1	1	1	2	0	3	2	2	1	1	1	4	3	1	1	3	4			TCGA-EJ-5511-01A-01D-1576-08	TCGA-EJ-5511-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e536fb66-cd30-4a00-9c66-ca13be6fe4b1	4452049f-29f1-46b3-92c6-41ebe5c50439	g.chr17:42635702C>G	ENST00000315323.3	+	1	778	c.646C>G	c.(646-648)Ctg>Gtg	p.L216V		NM_001466.3	NP_001457.1	Q14332	FZD2_HUMAN	frizzled class receptor 2	216					axonogenesis (GO:0007409)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|cell-cell signaling (GO:0007267)|cochlea morphogenesis (GO:0090103)|epithelial cell differentiation (GO:0030855)|G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:0007199)|gonad development (GO:0008406)|hard palate development (GO:0060022)|inner ear receptor cell development (GO:0060119)|membranous septum morphogenesis (GO:0003149)|muscular septum morphogenesis (GO:0003150)|neuron differentiation (GO:0030182)|outflow tract morphogenesis (GO:0003151)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of cGMP metabolic process (GO:0030825)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription, DNA-templated (GO:0045893)|sensory perception of smell (GO:0007608)|vasculature development (GO:0001944)|Wnt signaling pathway, calcium modulating pathway (GO:0007223)	apical part of cell (GO:0045177)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|neuron projection membrane (GO:0032589)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)	p.L216V(1)		central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(8)	33		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.189)		CTACAAGTTTCTGGGCGAGCG	0.672																																						ENST00000315323.3																			1	Substitution - Missense(1)	p.L216V(1)	prostate(1)	central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(8)	33						c.(646-648)Ctg>Gtg		frizzled family receptor 2							30	30	30					17																	42635702		2203	4300	6503	SO:0001583	missense	2535				axonogenesis|brain development|canonical Wnt receptor signaling pathway|epithelial cell differentiation|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|positive regulation of cGMP metabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway	apical part of cell|cytoplasm|integral to membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding	g.chr17:42635702C>G	L37882	CCDS11484.1	17q21.1	2014-01-29	2014-01-29			ENSG00000180340		"GPCR / Class F : Frizzled receptors"	4040	protein-coding gene	gene with protein product		600667	"frizzled (Drosophila) homolog 2", "frizzled homolog 2 (Drosophila)", "frizzled 2, seven transmembrane spanning receptor", "frizzled family receptor 2"			7558010, 9813155	Standard	NM_001466		Approved		uc002igx.2	Q14332		ENST00000315323.3:c.646C>G	17.37:g.42635702C>G	ENSP00000323901:p.Leu216Val						p.L216V	NM_001466.3	NP_001457.1	Q14332	FZD2_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.189)	1	778	+		Prostate(33;0.0181)	216					Q0VG82	Missense_Mutation	SNP	ENST00000315323.3	37	c.646C>G	CCDS11484.1	.	.	.	.	.	.	.	.	.	.	c	2.676	-0.276497	0.05679	.	.	ENSG00000180340	ENST00000541149;ENST00000315323	T	0.73469	-0.75	4.48	3.26	0.37387	.	0.000000	0.64402	D	0.000003	T	0.63663	0.2530	L	0.50333	1.59	0.43724	D	0.996201	P	0.37548	0.599	B	0.32465	0.146	T	0.66212	-0.5980	10	0.44086	T	0.13	.	9.9157	0.41432	0.0:0.8131:0.0:0.1869	.	216	Q14332	FZD2_HUMAN	V	292;216	ENSP00000323901:L216V	ENSP00000323901:L216V	L	+	1	2	FZD2	39991228	0.023000	0.18921	0.999000	0.59377	0.994000	0.84299	-0.104000	0.10923	2.018000	0.59344	0.561000	0.74099	CTG		0.672	FZD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457806.1	NM_001466		22	22	0	0	0	1	0	22	22					G	42635702	C	G	42635702	3	3	60	1	0	0	0	0	1	0	0	0	6130	912	32	5	648	5	FZD2	17	42635702	Missense_Mutation	SNP	C	TCGA-EJ-5511-01A-01D-1576-08	49	42635702	38559508	43	3102			1	11		7	7	1021	C		3.875655e-20
FZD2	2535	broad.mit.edu	37	chr17	42636061	42636061	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atcctcttcatgatgctctaCttcttcagcatggccagctc	7	14	6	14	0	5	1	2	1	3	0	7	1	6	1	2	1	4	3	2	1	1	4			TCGA-EJ-5511-01A-01D-1576-08	TCGA-EJ-5511-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e536fb66-cd30-4a00-9c66-ca13be6fe4b1	4452049f-29f1-46b3-92c6-41ebe5c50439	g.chr17:42636061C>G	ENST00000315323.3	+	1	1137	c.1005C>G	c.(1003-1005)taC>taG	p.Y335*		NM_001466.3	NP_001457.1	Q14332	FZD2_HUMAN	frizzled class receptor 2	335					axonogenesis (GO:0007409)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|cell-cell signaling (GO:0007267)|cochlea morphogenesis (GO:0090103)|epithelial cell differentiation (GO:0030855)|G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:0007199)|gonad development (GO:0008406)|hard palate development (GO:0060022)|inner ear receptor cell development (GO:0060119)|membranous septum morphogenesis (GO:0003149)|muscular septum morphogenesis (GO:0003150)|neuron differentiation (GO:0030182)|outflow tract morphogenesis (GO:0003151)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of cGMP metabolic process (GO:0030825)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription, DNA-templated (GO:0045893)|sensory perception of smell (GO:0007608)|vasculature development (GO:0001944)|Wnt signaling pathway, calcium modulating pathway (GO:0007223)	apical part of cell (GO:0045177)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|neuron projection membrane (GO:0032589)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)	p.Y335*(1)		central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(8)	33		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.189)		TGATGCTCTACTTCTTCAGCA	0.617																																						ENST00000315323.3																			1	Substitution - Nonsense(1)	p.Y335*(1)	prostate(1)	central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(8)	33						c.(1003-1005)taC>taG		frizzled family receptor 2							95	86	89					17																	42636061		2203	4300	6503	SO:0001587	stop_gained	2535				axonogenesis|brain development|canonical Wnt receptor signaling pathway|epithelial cell differentiation|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|positive regulation of cGMP metabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway	apical part of cell|cytoplasm|integral to membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding	g.chr17:42636061C>G	L37882	CCDS11484.1	17q21.1	2014-01-29	2014-01-29			ENSG00000180340		"GPCR / Class F : Frizzled receptors"	4040	protein-coding gene	gene with protein product		600667	"frizzled (Drosophila) homolog 2", "frizzled homolog 2 (Drosophila)", "frizzled 2, seven transmembrane spanning receptor", "frizzled family receptor 2"			7558010, 9813155	Standard	NM_001466		Approved		uc002igx.2	Q14332		ENST00000315323.3:c.1005C>G	17.37:g.42636061C>G	ENSP00000323901:p.Tyr335*						p.Y335*	NM_001466.3	NP_001457.1	Q14332	FZD2_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.189)	1	1137	+		Prostate(33;0.0181)	335					Q0VG82	Nonsense_Mutation	SNP	ENST00000315323.3	37	c.1005C>G	CCDS11484.1	.	.	.	.	.	.	.	.	.	.	c	20.3	3.968667	0.74131	.	.	ENSG00000180340	ENST00000541149;ENST00000315323	.	.	.	4.85	0.489	0.16854	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.8488	0.46759	0.0:0.6444:0.0:0.3556	.	.	.	.	X	411;335	.	ENSP00000323901:Y335X	Y	+	3	2	FZD2	39991587	0.996000	0.38824	0.443000	0.26883	0.746000	0.42486	0.553000	0.23391	-0.113000	0.11958	-1.134000	0.01955	TAC		0.617	FZD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457806.1	NM_001466		33	71	0	0	0	1	0	33	71					G	42636061	C	G	42636061	4	3	60	1	0	0	0	0	0	1	0	0	6130	576	20	5	1007	5	FZD2	17	42636061	Nonsense_Mutation	SNP	C	TCGA-EJ-5511-01A-01D-1576-08	359	42636061	38559149	44	3103			1	11		7	7	1021	C		3.875655e-20
FZD2	2535	broad.mit.edu	37	chr17	42636173	42636173	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aggccaactctcagtacttcCacctggccgcctgggccgtg	6	8	11	16	2	1	0	1	0	1	0	3	0	2	0	6	3	2	1	6	3	2	2			TCGA-EJ-5511-01A-01D-1576-08	TCGA-EJ-5511-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e536fb66-cd30-4a00-9c66-ca13be6fe4b1	4452049f-29f1-46b3-92c6-41ebe5c50439	g.chr17:42636173C>T	ENST00000315323.3	+	1	1249	c.1117C>T	c.(1117-1119)Cac>Tac	p.H373Y		NM_001466.3	NP_001457.1	Q14332	FZD2_HUMAN	frizzled class receptor 2	373					axonogenesis (GO:0007409)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|cell-cell signaling (GO:0007267)|cochlea morphogenesis (GO:0090103)|epithelial cell differentiation (GO:0030855)|G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:0007199)|gonad development (GO:0008406)|hard palate development (GO:0060022)|inner ear receptor cell development (GO:0060119)|membranous septum morphogenesis (GO:0003149)|muscular septum morphogenesis (GO:0003150)|neuron differentiation (GO:0030182)|outflow tract morphogenesis (GO:0003151)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of cGMP metabolic process (GO:0030825)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription, DNA-templated (GO:0045893)|sensory perception of smell (GO:0007608)|vasculature development (GO:0001944)|Wnt signaling pathway, calcium modulating pathway (GO:0007223)	apical part of cell (GO:0045177)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|neuron projection membrane (GO:0032589)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)	p.H373Y(1)		central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(8)	33		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.189)		TCAGTACTTCCACCTGGCCGC	0.662																																						ENST00000315323.3																			1	Substitution - Missense(1)	p.H373Y(1)	prostate(1)	central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(8)	33						c.(1117-1119)Cac>Tac		frizzled family receptor 2							74	72	73					17																	42636173		2203	4300	6503	SO:0001583	missense	2535				axonogenesis|brain development|canonical Wnt receptor signaling pathway|epithelial cell differentiation|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|positive regulation of cGMP metabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway	apical part of cell|cytoplasm|integral to membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding	g.chr17:42636173C>T	L37882	CCDS11484.1	17q21.1	2014-01-29	2014-01-29			ENSG00000180340		"GPCR / Class F : Frizzled receptors"	4040	protein-coding gene	gene with protein product		600667	"frizzled (Drosophila) homolog 2", "frizzled homolog 2 (Drosophila)", "frizzled 2, seven transmembrane spanning receptor", "frizzled family receptor 2"			7558010, 9813155	Standard	NM_001466		Approved		uc002igx.2	Q14332		ENST00000315323.3:c.1117C>T	17.37:g.42636173C>T	ENSP00000323901:p.His373Tyr						p.H373Y	NM_001466.3	NP_001457.1	Q14332	FZD2_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.189)	1	1249	+		Prostate(33;0.0181)	373					Q0VG82	Missense_Mutation	SNP	ENST00000315323.3	37	c.1117C>T	CCDS11484.1	.	.	.	.	.	.	.	.	.	.	c	21.8	4.197860	0.79015	.	.	ENSG00000180340	ENST00000541149;ENST00000315323	D	0.88975	-2.45	5.12	5.12	0.69794	GPCR, family 2-like (1);	0.000000	0.85682	D	0.000000	D	0.96617	0.8896	H	0.97131	3.945	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98124	1.0427	10	0.87932	D	0	.	18.1618	0.89710	0.0:1.0:0.0:0.0	.	373	Q14332	FZD2_HUMAN	Y	449;373	ENSP00000323901:H373Y	ENSP00000323901:H373Y	H	+	1	0	FZD2	39991699	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.808000	0.86044	2.349000	0.79799	0.561000	0.74099	CAC		0.662	FZD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457806.1	NM_001466		52	90	0	0	0	1	0	52	90					T	42636173	C	T	42636173	3	4	60	1	0	0	0	0	1	0	0	0	6130	594	21	3	1119	3	FZD2	17	42636173	Missense_Mutation	SNP	C	TCGA-EJ-5511-01A-01D-1576-08	112	42636173	38559037	45	3104			1	11		7	7	1021	C		3.875655e-20
FZD2	2535	broad.mit.edu	37	chr17	42636211	42636211	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtgccggccgtcaagaccatCaccatcctggccatgggcca	8	6	11	16	2	2	1	2	0	0	1	3	1	3	1	7	3	1	0	7	3	1	0			TCGA-EJ-5511-01A-01D-1576-08	TCGA-EJ-5511-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e536fb66-cd30-4a00-9c66-ca13be6fe4b1	4452049f-29f1-46b3-92c6-41ebe5c50439	g.chr17:42636211C>T	ENST00000315323.3	+	1	1287	c.1155C>T	c.(1153-1155)atC>atT	p.I385I		NM_001466.3	NP_001457.1	Q14332	FZD2_HUMAN	frizzled class receptor 2	385					axonogenesis (GO:0007409)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|cell-cell signaling (GO:0007267)|cochlea morphogenesis (GO:0090103)|epithelial cell differentiation (GO:0030855)|G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:0007199)|gonad development (GO:0008406)|hard palate development (GO:0060022)|inner ear receptor cell development (GO:0060119)|membranous septum morphogenesis (GO:0003149)|muscular septum morphogenesis (GO:0003150)|neuron differentiation (GO:0030182)|outflow tract morphogenesis (GO:0003151)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of cGMP metabolic process (GO:0030825)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription, DNA-templated (GO:0045893)|sensory perception of smell (GO:0007608)|vasculature development (GO:0001944)|Wnt signaling pathway, calcium modulating pathway (GO:0007223)	apical part of cell (GO:0045177)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|neuron projection membrane (GO:0032589)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)	p.I385I(1)		central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(8)	33		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.189)		TCAAGACCATCACCATCCTGG	0.677																																						ENST00000315323.3																			1	Substitution - coding silent(1)	p.I385I(1)	prostate(1)	central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(8)	33						c.(1153-1155)atC>atT		frizzled family receptor 2							69	69	69					17																	42636211		2203	4299	6502	SO:0001819	synonymous_variant	2535				axonogenesis|brain development|canonical Wnt receptor signaling pathway|epithelial cell differentiation|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|positive regulation of cGMP metabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway	apical part of cell|cytoplasm|integral to membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding	g.chr17:42636211C>T	L37882	CCDS11484.1	17q21.1	2014-01-29	2014-01-29			ENSG00000180340		"GPCR / Class F : Frizzled receptors"	4040	protein-coding gene	gene with protein product		600667	"frizzled (Drosophila) homolog 2", "frizzled homolog 2 (Drosophila)", "frizzled 2, seven transmembrane spanning receptor", "frizzled family receptor 2"			7558010, 9813155	Standard	NM_001466		Approved		uc002igx.2	Q14332		ENST00000315323.3:c.1155C>T	17.37:g.42636211C>T							p.I385I	NM_001466.3	NP_001457.1	Q14332	FZD2_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.189)	1	1287	+		Prostate(33;0.0181)	385					Q0VG82	Silent	SNP	ENST00000315323.3	37	c.1155C>T	CCDS11484.1																																																																																				0.677	FZD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457806.1	NM_001466		53	93	0	0	0	1	0	53	93					T	42636211	C	T	42636211	2	4	60	1	0	0	0	0	0	0	0	1	6130	816	29	3		3	FZD2	17	42636211	Silent	SNP	C	TCGA-EJ-5511-01A-01D-1576-08	38	42636211	38558999	46	3105			1	11		7	7	1021	C		3.875655e-20
FZD2	2535	broad.mit.edu	37	chr17	42636499	42636499	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atcgtcatcgcttgctacttCtacgagcaggccttccgcga	7	11	9	14	5	2	0	1	0	1	0	5	2	3	0	2	1	4	3	2	1	2	5			TCGA-EJ-5511-01A-01D-1576-08	TCGA-EJ-5511-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e536fb66-cd30-4a00-9c66-ca13be6fe4b1	4452049f-29f1-46b3-92c6-41ebe5c50439	g.chr17:42636499C>T	ENST00000315323.3	+	1	1575	c.1443C>T	c.(1441-1443)ttC>ttT	p.F481F		NM_001466.3	NP_001457.1	Q14332	FZD2_HUMAN	frizzled class receptor 2	481					axonogenesis (GO:0007409)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|cell-cell signaling (GO:0007267)|cochlea morphogenesis (GO:0090103)|epithelial cell differentiation (GO:0030855)|G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:0007199)|gonad development (GO:0008406)|hard palate development (GO:0060022)|inner ear receptor cell development (GO:0060119)|membranous septum morphogenesis (GO:0003149)|muscular septum morphogenesis (GO:0003150)|neuron differentiation (GO:0030182)|outflow tract morphogenesis (GO:0003151)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of cGMP metabolic process (GO:0030825)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription, DNA-templated (GO:0045893)|sensory perception of smell (GO:0007608)|vasculature development (GO:0001944)|Wnt signaling pathway, calcium modulating pathway (GO:0007223)	apical part of cell (GO:0045177)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|neuron projection membrane (GO:0032589)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)	p.F481F(1)		central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(8)	33		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.189)		CTTGCTACTTCTACGAGCAGG	0.647																																						ENST00000315323.3																			1	Substitution - coding silent(1)	p.F481F(1)	prostate(1)	central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(8)	33						c.(1441-1443)ttC>ttT		frizzled family receptor 2							61	51	54					17																	42636499		2203	4300	6503	SO:0001819	synonymous_variant	2535				axonogenesis|brain development|canonical Wnt receptor signaling pathway|epithelial cell differentiation|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|positive regulation of cGMP metabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway	apical part of cell|cytoplasm|integral to membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding	g.chr17:42636499C>T	L37882	CCDS11484.1	17q21.1	2014-01-29	2014-01-29			ENSG00000180340		"GPCR / Class F : Frizzled receptors"	4040	protein-coding gene	gene with protein product		600667	"frizzled (Drosophila) homolog 2", "frizzled homolog 2 (Drosophila)", "frizzled 2, seven transmembrane spanning receptor", "frizzled family receptor 2"			7558010, 9813155	Standard	NM_001466		Approved		uc002igx.2	Q14332		ENST00000315323.3:c.1443C>T	17.37:g.42636499C>T							p.F481F	NM_001466.3	NP_001457.1	Q14332	FZD2_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.189)	1	1575	+		Prostate(33;0.0181)	481					Q0VG82	Silent	SNP	ENST00000315323.3	37	c.1443C>T	CCDS11484.1																																																																																				0.647	FZD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457806.1	NM_001466		23	36	0	0	0	1	0	23	36					T	42636499	C	T	42636499	2	4	60	1	0	0	0	0	0	0	0	1	6130	912	32	3		3	FZD2	17	42636499	Silent	SNP	C	TCGA-EJ-5511-01A-01D-1576-08	288	42636499	38558711	47	3106			1	11		7	7	1021	C		3.875655e-20
LAMA1	284217	broad.mit.edu	37	chr18	6943333	6943333	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgccattttccatcacagagCacagtggcggttttgggctc	7	12	11	11	1	1	1	1	0	0	1	3	1	2	1	2	3	2	3	2	3	0	4			TCGA-EJ-5511-01A-01D-1576-08	TCGA-EJ-5511-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e536fb66-cd30-4a00-9c66-ca13be6fe4b1	4452049f-29f1-46b3-92c6-41ebe5c50439	g.chr18:6943333C>A	ENST00000389658.3	-	62	9006	c.8913G>T	c.(8911-8913)gtG>gtT	p.V2971V		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	2971	Laminin G-like 5. {ECO:0000255|PROSITE- ProRule:PRU00122}.				axon guidance (GO:0007411)|branching involved in salivary gland morphogenesis (GO:0060445)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment of epithelial cell apical/basal polarity (GO:0045198)|extracellular matrix organization (GO:0030198)|morphogenesis of an epithelial sheet (GO:0002011)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|laminin-1 complex (GO:0005606)|laminin-3 complex (GO:0005608)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)				CATCACAGAGCACAGTGGCGG	0.458																																						ENST00000389658.3																			0				NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205						c.(8911-8913)gtG>gtT		laminin, alpha 1	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						235	202	214					18																	6943333		2203	4300	6503	SO:0001819	synonymous_variant	284217				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding	g.chr18:6943333C>A	X58531	CCDS32787.1	18p11.3	2013-03-01			ENSG00000101680	ENSG00000101680		"Laminins"	6481	protein-coding gene	gene with protein product		150320		LAMA		2591971	Standard	NM_005559		Approved		uc002knm.3	P25391	OTTHUMG00000133478	ENST00000389658.3:c.8913G>T	18.37:g.6943333C>A							p.V2971V	NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN			62	9006	-		Colorectal(10;0.172)	2971			Laminin G-like 5.			Silent	SNP	ENST00000389658.3	37	c.8913G>T	CCDS32787.1																																																																																				0.458	LAMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257369.1	NM_005559		5	154	1	0	0.0293803	1	0.0302445	5	154					A	6943333	C	A	6943333	2	1	60	1	0	0	0	0	0	0	0	1	8605	697	25	5		5	LAMA1	18	6943333	Silent	SNP	C	TCGA-EJ-5511-01A-01D-1576-08		6943333	71133915	48	3107											
CHST8	64377	broad.mit.edu	37	chr19	34180279	34180279	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcaggaccctacggagctcGccccccagcaggtgccaggt	7	5	13	16	2	0	0	0	0	0	0	1	2	0	2	5	4	5	3	5	4	1	1			TCGA-EJ-5511-01A-01D-1576-08	TCGA-EJ-5511-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e536fb66-cd30-4a00-9c66-ca13be6fe4b1	4452049f-29f1-46b3-92c6-41ebe5c50439	g.chr19:34180279G>A	ENST00000262622.4	+	2	870	c.112G>A	c.(112-114)Gcc>Acc	p.A38T	CHST8_ENST00000438847.3_Missense_Mutation_p.A38T|CHST8_ENST00000604556.1_3'UTR|CHST8_ENST00000434302.1_Missense_Mutation_p.A38T	NM_022467.3	NP_071912.2	Q9H2A9	CHST8_HUMAN	carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 8	38					carbohydrate biosynthetic process (GO:0016051)|central nervous system development (GO:0007417)|hormone biosynthetic process (GO:0042446)|proteoglycan biosynthetic process (GO:0030166)|sulfur compound metabolic process (GO:0006790)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	N-acetylgalactosamine 4-O-sulfotransferase activity (GO:0001537)	p.A38T(1)		NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(8)|ovary(1)|prostate(1)|skin(5)	27	Esophageal squamous(110;0.162)					TACGGAGCTCGCCCCCCAGCA	0.632																																						ENST00000262622.3																			1	Substitution - Missense(1)	p.A38T(1)	prostate(1)	NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(8)|ovary(1)|prostate(1)|skin(5)	27						c.(112-114)Gcc>Acc		carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 8							79	81	80					19																	34180279		2203	4300	6503	SO:0001583	missense	64377				carbohydrate biosynthetic process|central nervous system development|hormone biosynthetic process|proteoglycan biosynthetic process|sulfur compound metabolic process	Golgi membrane|integral to membrane	N-acetylgalactosamine 4-O-sulfotransferase activity	g.chr19:34180279G>A	AB047801	CCDS12433.1	19q13.1	2008-02-05				ENSG00000124302		"Sulfotransferases, membrane-bound"	15993	protein-coding gene	gene with protein product		610190				10988300, 11001942	Standard	NM_001127895		Approved	GALNAC-4-ST1	uc002nut.4	Q9H2A9		ENST00000262622.4:c.112G>A	19.37:g.34180279G>A	ENSP00000262622:p.Ala38Thr					CHST8_ENST00000438847.2_Missense_Mutation_p.A38T|CHST8_ENST00000434302.1_Missense_Mutation_p.A38T|CHST8_ENST00000604556.1_Missense_Mutation_p.A38T	p.A38T	NM_022467.3	NP_071912.2	Q9H2A9	CHST8_HUMAN			2	870	+	Esophageal squamous(110;0.162)		38					Q9H3N2	Missense_Mutation	SNP	ENST00000262622.4	37	c.112G>A	CCDS12433.1	.	.	.	.	.	.	.	.	.	.	G	7.965	0.747801	0.15710	.	.	ENSG00000124302	ENST00000434302;ENST00000438847;ENST00000262622	T;T;T	0.74526	-0.85;-0.85;-0.85	5.39	-1.04	0.10068	.	0.852592	0.10181	N	0.705866	T	0.48484	0.1502	N	0.12182	0.205	0.09310	N	1	B	0.20550	0.046	B	0.09377	0.004	T	0.27673	-1.0067	10	0.13470	T	0.59	-10.8953	5.8748	0.18822	0.3666:0.0:0.5045:0.1288	.	38	Q9H2A9	CHST8_HUMAN	T	38	ENSP00000392604:A38T;ENSP00000393879:A38T;ENSP00000262622:A38T	ENSP00000262622:A38T	A	+	1	0	CHST8	38872119	0.021000	0.18746	0.721000	0.30653	0.127000	0.20565	0.647000	0.24812	-0.004000	0.14419	0.591000	0.81541	GCC		0.632	CHST8-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451453.1	NM_022467		50	103	0	0	0	1	0	50	103					A	34180279	G	A	34180279	3	1	60	1	0	0	0	0	1	0	0	0	3410	1087	38	1	114	1	CHST8	19	34180279	Missense_Mutation	SNP	G	TCGA-EJ-5511-01A-01D-1576-08		34180279	24948704	49	3108											
FOXA2	3170	broad.mit.edu	37	chr20	22563512	22563512	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggccgcccatggccccggccGcctgccccccgagcgggctc	2	3	14	22	5	0	0	0	0	0	0	1	1	0	0	9	4	2	1	9	4	0	0			TCGA-EJ-5511-01A-01D-1576-08	TCGA-EJ-5511-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e536fb66-cd30-4a00-9c66-ca13be6fe4b1	4452049f-29f1-46b3-92c6-41ebe5c50439	g.chr20:22563512G>A	ENST00000377115.4	-	3	531	c.350C>T	c.(349-351)gCg>gTg	p.A117V	FOXA2_ENST00000419308.2_Missense_Mutation_p.A123V	NM_153675.2	NP_710141.1	Q9Y261	FOXA2_HUMAN	forkhead box A2	117					adult locomotory behavior (GO:0008344)|cell development (GO:0048468)|cell differentiation in hindbrain (GO:0021533)|cell fate specification (GO:0001708)|chromatin modification (GO:0016568)|connective tissue development (GO:0061448)|dopaminergic neuron differentiation (GO:0071542)|dorsal/ventral neural tube patterning (GO:0021904)|ectoderm formation (GO:0001705)|endocrine pancreas development (GO:0031018)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|in utero embryonic development (GO:0001701)|lung epithelial cell differentiation (GO:0060487)|negative regulation of detection of glucose (GO:2000971)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of glucokinase activity (GO:0033132)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter by glucose (GO:0000433)|neuron fate specification (GO:0048665)|positive regulation of cell-cell adhesion mediated by cadherin (GO:2000049)|positive regulation of embryonic development (GO:0040019)|positive regulation of gastrulation (GO:2000543)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter by glucose (GO:0000432)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of transcription, DNA-templated (GO:0045893)|primitive streak formation (GO:0090009)|regulation of blood coagulation (GO:0030193)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|regulation of steroid metabolic process (GO:0019218)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase II promoter involved in detection of glucose (GO:2000976)|response to interleukin-6 (GO:0070741)|signal transduction involved in regulation of gene expression (GO:0023019)|somite rostral/caudal axis specification (GO:0032525)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)	p.A117V(1)		breast(1)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(1)|lung(3)|ovary(2)|prostate(2)|urinary_tract(1)	22	Lung NSC(19;0.188)					GGCCCCGGCCGCCTGCCCCCC	0.781																																						ENST00000419308.2																			1	Substitution - Missense(1)	p.A117V(1)	prostate(1)	breast(1)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(1)|lung(3)|ovary(2)|prostate(2)|urinary_tract(1)	22						c.(349-351)gCg>gTg		forkhead box A2							10	13	12					20																	22563512		2122	4193	6315	SO:0001583	missense	3170				cell differentiation in hindbrain|central nervous system myelin formation|chromatin modification|dorsal/ventral neural tube patterning|ectoderm formation|endocrine pancreas development|endoderm development|epithelial tube branching involved in lung morphogenesis|in utero embryonic development|lung epithelial cell differentiation|negative regulation of neuron differentiation|neuron fate specification|oligodendrocyte cell fate commitment|positive regulation of embryonic development|positive regulation of gastrulation|positive regulation of neuron differentiation|primitive streak formation|regulation of blood coagulation|regulation of sequence-specific DNA binding transcription factor activity|response to interleukin-6	cytoplasm|transcription factor complex	DNA bending activity|double-stranded DNA binding|protein domain specific binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chr20:22563512G>A	AF147787	CCDS13147.1, CCDS46585.1	20p11	2008-04-10		2002-09-20	ENSG00000125798	ENSG00000125798		"Forkhead boxes"	5022	protein-coding gene	gene with protein product		600288	"hepatocyte nuclear factor 3, beta"	HNF3B		9119385, 11875061	Standard	NM_153675		Approved		uc002wsm.3	Q9Y261	OTTHUMG00000032041	ENST00000377115.4:c.350C>T	20.37:g.22563512G>A	ENSP00000366319:p.Ala117Val					FOXA2_ENST00000319993.4_Missense_Mutation_p.A123V|FOXA2_ENST00000377115.4_Missense_Mutation_p.A117V	p.A117V	NM_021784.4	NP_068556.2	Q9Y261	FOXA2_HUMAN			2	552	-	Lung NSC(19;0.188)		117					Q8WUW4|Q96DF7	Missense_Mutation	SNP	ENST00000377115.4	37	c.350C>T	CCDS13147.1	.	.	.	.	.	.	.	.	.	.	G	15.16	2.751576	0.49257	.	.	ENSG00000125798	ENST00000377115;ENST00000419308;ENST00000319993	T;T;T	0.18174	2.23;2.23;2.23	4.13	2.1	0.27182	Fork-head N-terminal (1);	0.216584	0.30940	U	0.008563	T	0.19604	0.0471	L	0.47716	1.5	0.46437	D	0.999048	P;P	0.49185	0.92;0.92	B;P	0.47102	0.413;0.537	T	0.01252	-1.1405	10	0.41790	T	0.15	.	11.8031	0.52139	0.0:0.3411:0.6589:0.0	.	117;123	Q9Y261;B0ZTD4	FOXA2_HUMAN;.	V	117;117;123	ENSP00000366319:A117V;ENSP00000400341:A117V;ENSP00000315955:A123V	ENSP00000315955:A123V	A	-	2	0	FOXA2	22511512	1.000000	0.71417	0.993000	0.49108	0.989000	0.77384	5.260000	0.65490	0.371000	0.24564	-0.201000	0.12746	GCG		0.781	FOXA2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000078289.1			11	17	0	0	0	1	0	11	17					A	22563512	G	A	22563512	3	1	60	1	0	0	0	0	1	0	0	0	5990	1087	38	1	1027	1	FOXA2	20	22563512	Missense_Mutation	SNP	G	TCGA-EJ-5511-01A-01D-1576-08		22563512	40462008	50	3109											
TH1L	51497	broad.mit.edu	37	chr20	57564072	57564072	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tttgatgctgaacttcaccgTtaaggtaggaagagttctag	11	13	11	6	1	2	3	1	2	1	1	2	4	2	4	1	2	2	4	1	2	5	6			TCGA-EJ-5511-01A-01D-1576-08	TCGA-EJ-5511-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e536fb66-cd30-4a00-9c66-ca13be6fe4b1	4452049f-29f1-46b3-92c6-41ebe5c50439	g.chr20:57564072T>A	ENST00000344018.3	+	5	554	c.527T>A	c.(526-528)gTt>gAt	p.V176D	NELFCD_ENST00000602795.1_Missense_Mutation_p.V185D			Q8IXH7	NELFD_HUMAN	negative elongation factor complex member C/D	176					gene expression (GO:0010467)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of viral transcription (GO:0050434)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	membrane (GO:0016020)|NELF complex (GO:0032021)|nucleoplasm (GO:0005654)		p.V176D(1)									AACTTCACCGTTAAGGTAGGA	0.408																																						ENST00000602795.1																			1	Substitution - Missense(1)	p.V176D(1)	prostate(1)								c.(553-555)gTt>gAt		negative elongation factor complex member C/D							87	78	81					20																	57564072		2203	4300	6503	SO:0001583	missense	51497							g.chr20:57564072T>A	AF161479	CCDS13473.1, CCDS13473.2	20q13	2013-01-31	2013-01-31	2013-01-31	ENSG00000101158	ENSG00000101158			15934	protein-coding gene	gene with protein product	"trihydrophobin 1"	605297	"TH1-like (Drosophila homolog)", "TH1-like (Drosophila)"	TH1L		11030415, 11042152	Standard	NM_198976		Approved	HSPC130, TH1, NELF-C, NELF-D	uc002yag.4	Q8IXH7	OTTHUMG00000032861	ENST00000344018.3:c.527T>A	20.37:g.57564072T>A	ENSP00000342300:p.Val176Asp					NELFCD_ENST00000344018.3_Missense_Mutation_p.V176D	p.V185D							5	602	+								B4DE06|Q9BYL2|Q9H405|Q9H888|Q9H8T3|Q9NVX5|Q9P029|Q9UGN1|Q9UGN2|Q9UGN3	Missense_Mutation	SNP	ENST00000344018.3	37	c.554T>A		.	.	.	.	.	.	.	.	.	.	T	26.5	4.743772	0.89663	.	.	ENSG00000101158	ENST00000344018	.	.	.	4.92	4.92	0.64577	.	0.000000	0.85682	D	0.000000	T	0.62319	0.2418	N	0.19112	0.55	0.80722	D	1	D;D;D	0.89917	1.0;0.996;0.995	D;D;P	0.91635	0.999;0.992;0.825	T	0.67852	-0.5563	9	0.87932	D	0	-28.8902	13.4136	0.60956	0.0:0.0:0.0:1.0	.	176;185;176	B4E2K1;E1P5H4;Q8IXH7	.;.;NELFD_HUMAN	D	176	.	ENSP00000342300:V176D	V	+	2	0	TH1L	56997467	1.000000	0.71417	0.999000	0.59377	0.957000	0.61999	5.814000	0.69208	1.974000	0.57490	0.459000	0.35465	GTT		0.408	NELFCD-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_198976		5	89	0	0	0	1	0	5	89					A	57564072	T	A	57564072	3	1	60	1	0	0	0	0	1	0	0	0	15836	1725	60	5	545	5	TH1L	20	57564072	Missense_Mutation	SNP	T	TCGA-EJ-5511-01A-01D-1576-08	35000560	57564072	5461448	51	3110											
CXorf58	254158	broad.mit.edu	37	chrX	23934359	23934359	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gaggtgaaacgtttccacctTtcatcgtgtttaaaattttt	10	17	7	7	2	1	1	1	1	0	0	3	2	2	1	2	1	1	2	2	1	3	6			TCGA-EJ-5511-01A-01D-1576-08	TCGA-EJ-5511-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e536fb66-cd30-4a00-9c66-ca13be6fe4b1	4452049f-29f1-46b3-92c6-41ebe5c50439	g.chrX:23934359T>C	ENST00000379211.3	+	5	886	c.337T>C	c.(337-339)Ttc>Ctc	p.F113L		NM_001169574.1|NM_152761.2	NP_001163045.1|NP_689974.2	Q96LI9	CX058_HUMAN	chromosome X open reading frame 58	113								p.F113L(2)		breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(2)|prostate(1)	14						GTTTCCACCTTTCATCGTGTT	0.338																																						ENST00000379211.3																			2	Substitution - Missense(2)	p.F113L(2)	prostate(2)	breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(2)|prostate(1)	14						c.(337-339)Ttc>Ctc		chromosome X open reading frame 58							101	86	91					X																	23934359		2202	4298	6500	SO:0001583	missense	254158							g.chrX:23934359T>C	AK058173	CCDS14209.1	Xp22.11	2012-11-28			ENSG00000165182	ENSG00000165182			26356	protein-coding gene	gene with protein product							Standard	NM_152761		Approved	FLJ25444	uc004daz.1	Q96LI9	OTTHUMG00000021258	ENST00000379211.3:c.337T>C	X.37:g.23934359T>C	ENSP00000368511:p.Phe113Leu						p.F113L	NM_001169574.1|NM_152761.2	NP_001163045.1|NP_689974.2	Q96LI9	CX058_HUMAN			5	886	+			113						Missense_Mutation	SNP	ENST00000379211.3	37	c.337T>C	CCDS14209.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	t|t	9.018|9.018	0.984067|0.984067	0.18889|0.18889	.|.	.|.	ENSG00000165182|ENSG00000165182	ENST00000379211|ENST00000435707	T|.	0.28454|.	1.61|.	5.0|5.0	3.81|3.81	0.43845|0.43845	.|.	0.352413|0.352413	0.22693|0.22693	N|N	0.056786|0.056786	T|T	0.41766|0.41766	0.1173|0.1173	L|L	0.51422|0.51422	1.61|1.61	0.23959|0.23959	N|N	0.99635|0.99635	P;P|.	0.42941|.	0.655;0.794|.	B;B|.	0.43052|.	0.269;0.406|.	T|T	0.23119|0.23119	-1.0197|-1.0197	10|6	0.27082|.	T|.	0.32|.	-0.3733|-0.3733	9.0467|9.0467	0.36352|0.36352	0.0:0.0:0.1834:0.8166|0.0:0.0:0.1834:0.8166	.|.	113;113|.	B7ZLS7;Q96LI9|.	.;CX058_HUMAN|.	L|S	113|86	ENSP00000368511:F113L|.	ENSP00000368511:F113L|.	F|F	+|+	1|2	0|0	CXorf58|CXorf58	23844280|23844280	1.000000|1.000000	0.71417|0.71417	0.995000|0.995000	0.50966|0.50966	0.904000|0.904000	0.53231|0.53231	1.285000|1.285000	0.33261|0.33261	0.563000|0.563000	0.29222|0.29222	0.336000|0.336000	0.21669|0.21669	TTC|TTT		0.338	CXorf58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056071.1	NM_152761		19	7	0	0	0	1	0	19	7					C	23934359	T	C	23934359	3	2	60	1	0	0	0	0	1	0	0	0	4114	1841	64	4	351	4	CXorf58	23	23934359	Missense_Mutation	SNP	T	TCGA-EJ-5511-01A-01D-1576-08		23934359	131336201	52	3111											
KLHL13	90293	broad.mit.edu	37	chrX	117053579	117053579	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttgaaggttgtccatattaaGagaaagctttgcagtataaa	15	13	9	4	0	0	2	0	1	0	1	1	3	1	2	1	1	2	4	1	1	7	7			TCGA-EJ-5511-01A-01D-1576-08	TCGA-EJ-5511-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e536fb66-cd30-4a00-9c66-ca13be6fe4b1	4452049f-29f1-46b3-92c6-41ebe5c50439	g.chrX:117053579G>C	ENST00000262820.3	-	4	1384	c.475C>G	c.(475-477)Ctt>Gtt	p.L159V	KLHL13_ENST00000469946.1_Missense_Mutation_p.L108V|KLHL13_ENST00000371878.1_Missense_Mutation_p.L108V|KLHL13_ENST00000545703.1_Missense_Mutation_p.L117V|KLHL13_ENST00000541812.1_Missense_Mutation_p.L143V|KLHL13_ENST00000540167.1_Missense_Mutation_p.L143V|KLHL13_ENST00000539496.1_Missense_Mutation_p.L162V|KLHL13_ENST00000371882.1_Missense_Mutation_p.L108V|KLHL13_ENST00000371876.1_Missense_Mutation_p.L108V	NM_033495.3	NP_277030.2	Q9P2N7	KLH13_HUMAN	kelch-like family member 13	159	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				cytokinesis (GO:0000910)|mitotic nuclear division (GO:0007067)|protein ubiquitination (GO:0016567)	Cul3-RING ubiquitin ligase complex (GO:0031463)		p.L159V(1)		NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	34						TCCATATTAAGAGAAAGCTTT	0.378																																						ENST00000371876.1																			1	Substitution - Missense(1)	p.L159V(1)	prostate(1)	NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	34						c.(322-324)Ctt>Gtt		kelch-like family member 13							72	75	74					X																	117053579		2203	4300	6503	SO:0001583	missense	90293				cytokinesis|mitosis|protein ubiquitination	Cul3-RING ubiquitin ligase complex		g.chrX:117053579G>C	AB037730	CCDS14571.1, CCDS55479.1, CCDS55480.1, CCDS55481.1	Xq23-q24	2013-01-30	2013-01-30	2004-02-18	ENSG00000003096	ENSG00000003096		"Kelch-like", "BTB/POZ domain containing"	22931	protein-coding gene	gene with protein product		300655	"BTB and kelch domain containing 2, KIAA1309", "kelch-like 13 (Drosophila)"	BKLHD2, KIAA1309		10718198	Standard	NM_033495		Approved	FLJ10262	uc011mtp.2	Q9P2N7	OTTHUMG00000022252	ENST00000262820.3:c.475C>G	X.37:g.117053579G>C	ENSP00000262820:p.Leu159Val					KLHL13_ENST00000371878.1_Missense_Mutation_p.L108V|KLHL13_ENST00000540167.1_Missense_Mutation_p.L143V|KLHL13_ENST00000545703.1_Missense_Mutation_p.L117V|KLHL13_ENST00000469946.1_Missense_Mutation_p.L108V|KLHL13_ENST00000371882.1_Missense_Mutation_p.L108V|KLHL13_ENST00000262820.3_Missense_Mutation_p.L159V|KLHL13_ENST00000539496.1_Missense_Mutation_p.L162V|KLHL13_ENST00000541812.1_Missense_Mutation_p.L143V	p.L108V			Q9P2N7	KLH13_HUMAN			3	2743	-			159			BTB.		B3KV78|B3KWM7|B7Z3S9|B7Z5P2|B7Z802|D3DWH6|Q6P2E3|Q96QI7|Q9UDN9	Missense_Mutation	SNP	ENST00000262820.3	37	c.322C>G	CCDS14571.1	.	.	.	.	.	.	.	.	.	.	G	14.36	2.510853	0.44660	.	.	ENSG00000003096	ENST00000371882;ENST00000371876;ENST00000371878;ENST00000447671;ENST00000541812;ENST00000540167;ENST00000539496;ENST00000262820;ENST00000545703;ENST00000469946	T;T;T;T;T;T;T;T;T;T	0.72051	-0.62;-0.62;-0.62;-0.62;-0.62;-0.62;-0.62;-0.62;-0.62;-0.62	5.07	4.2	0.49525	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.000000	0.85682	D	0.000000	T	0.70937	0.3281	N	0.26130	0.795	0.58432	D	0.999998	P;D;P;D	0.64830	0.924;0.994;0.867;0.972	P;D;P;P	0.68353	0.664;0.957;0.664;0.896	T	0.64931	-0.6291	10	0.09338	T	0.73	.	14.0853	0.64951	0.0:0.0:0.8484:0.1516	.	143;162;153;159	Q9P2N7-3;Q9P2N7-5;Q9P2N7-4;Q9P2N7	.;.;.;KLH13_HUMAN	V	108;108;108;108;143;143;162;159;117;108	ENSP00000360949:L108V;ENSP00000360943:L108V;ENSP00000360945:L108V;ENSP00000412640:L108V;ENSP00000444450:L143V;ENSP00000441029:L143V;ENSP00000443191:L162V;ENSP00000262820:L159V;ENSP00000440707:L117V;ENSP00000419803:L108V	ENSP00000262820:L159V	L	-	1	0	KLHL13	116937607	1.000000	0.71417	1.000000	0.80357	0.007000	0.05969	7.800000	0.85949	1.105000	0.41606	-0.382000	0.06688	CTT		0.378	KLHL13-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_033495		6	80	0	0	0	1	0	6	80					C	117053579	G	C	117053579	3	2	60	1	0	0	0	0	1	0	0	0	8369	942	33	5	1508	5	KLHL13	23	117053579	Missense_Mutation	SNP	G	TCGA-EJ-5511-01A-01D-1576-08	93119220	117053579	38216981	53	3112											
OR6K2	81448	broad.mit.edu	37	chr1	158669837	158669837	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ataatctccactgcatgaatGacatccactacctgaatcat	14	11	4	12	0	2	3	1	3	1	0	4	3	3	3	3	0	2	1	3	0	4	2			TCGA-EJ-5512-01A-01D-1576-08	TCGA-EJ-5512-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49224380-bffd-4048-93a7-fb4b19285c35	05c383c1-ef34-477c-b518-2b48a62f2443	g.chr1:158669837G>T	ENST00000359610.2	-	1	649	c.606C>A	c.(604-606)gtC>gtA	p.V202V		NM_001005279.1	NP_001005279.1	Q8NGY2	OR6K2_HUMAN	olfactory receptor, family 6, subfamily K, member 2	202						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V202V(1)		breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	46	all_hematologic(112;0.0378)					CTGCATGAATGACATCCACTA	0.483																																						ENST00000359610.2																			1	Substitution - coding silent(1)	p.V202V(1)	prostate(1)	breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	46						c.(604-606)gtC>gtA		olfactory receptor, family 6, subfamily K, member 2							169	135	146					1																	158669837		2203	4300	6503	SO:0001819	synonymous_variant	81448				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158669837G>T	BK004196	CCDS30902.1	1q23.1	2012-08-09			ENSG00000196171	ENSG00000196171		"GPCR / Class A : Olfactory receptors"	15029	protein-coding gene	gene with protein product							Standard	NM_001005279		Approved		uc001fsu.1	Q8NGY2	OTTHUMG00000022768	ENST00000359610.2:c.606C>A	1.37:g.158669837G>T							p.V202V	NM_001005279.1	NP_001005279.1	Q8NGY2	OR6K2_HUMAN			1	649	-	all_hematologic(112;0.0378)		202					B9EH33|Q6IFR6	Silent	SNP	ENST00000359610.2	37	c.606C>A	CCDS30902.1																																																																																				0.483	OR6K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059061.1	NM_001005279		31	194	1	0	3.62531e-18	1	4.46192e-18	31	194					T	158669837	G	T	158669837	2	4	61	1	0	0	0	0	0	0	0	1	11202	1277	45	5		5	OR6K2	1	158669837	Silent	SNP	G	TCGA-EJ-5512-01A-01D-1576-08		158669837	90580784	1	3113											
PLA2G4A	5321	broad.mit.edu	37	chr1	186915867	186915867	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aattttttatgggaacagtcGttaagaagtatgaagaaaac	17	12	9	3	1	0	3	0	1	0	2	1	4	0	4	0	1	2	2	0	1	9	5			TCGA-EJ-5512-01A-01D-1576-08	TCGA-EJ-5512-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49224380-bffd-4048-93a7-fb4b19285c35	05c383c1-ef34-477c-b518-2b48a62f2443	g.chr1:186915867G>A	ENST00000367466.3	+	11	1284	c.1132G>A	c.(1132-1134)Gtt>Att	p.V378I	PLA2G4A_ENST00000442353.2_Missense_Mutation_p.V318I	NM_024420.2	NP_077734	P47712	PA24A_HUMAN	phospholipase A2, group IVA (cytosolic, calcium-dependent)	378	PLA2c. {ECO:0000255|PROSITE- ProRule:PRU00555}.				arachidonic acid metabolic process (GO:0019369)|arachidonic acid secretion (GO:0050482)|blood coagulation (GO:0007596)|cardiolipin acyl-chain remodeling (GO:0035965)|cellular response to antibiotic (GO:0071236)|glycerophospholipid biosynthetic process (GO:0046474)|icosanoid biosynthetic process (GO:0046456)|icosanoid metabolic process (GO:0006690)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid catabolic process (GO:0009395)|phospholipid metabolic process (GO:0006644)|platelet activating factor biosynthetic process (GO:0006663)|platelet activation (GO:0030168)|regulation of cell proliferation (GO:0042127)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|mitochondrial inner membrane (GO:0005743)	calcium ion binding (GO:0005509)|calcium-dependent phospholipase A2 activity (GO:0047498)|calcium-dependent phospholipid binding (GO:0005544)|lysophospholipase activity (GO:0004622)|phospholipase A2 activity (GO:0004623)	p.V378I(2)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|prostate(3)|skin(4)|stomach(1)	53					Aldesleukin(DB00041)|Carbachol(DB00411)|Carbenicillin(DB00578)|Epirubicin(DB00445)|Fluocinolone Acetonide(DB00591)|Fluticasone Propionate(DB00588)|Niflumic Acid(DB04552)|Orlistat(DB01083)|Quinacrine(DB01103)|Streptokinase(DB00086)|Suramin(DB04786)	GGGAACAGTCGTTAAGAAGTA	0.338																																						ENST00000367466.3																			2	Substitution - Missense(2)	p.V378I(2)	prostate(2)	breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|prostate(3)|skin(4)|stomach(1)	53						c.(1132-1134)Gtt>Att		phospholipase A2, group IVA (cytosolic, calcium-dependent)	Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Medrysone(DB00253)|Quinacrine(DB01103)						83	82	82					1																	186915867		2203	4299	6502	SO:0001583	missense	5321				phospholipid catabolic process|platelet activating factor biosynthetic process|platelet activation	cytosol|endoplasmic reticulum membrane	calcium ion binding|calcium-dependent phospholipid binding|lysophospholipase activity	g.chr1:186915867G>A	M72393	CCDS1372.1	1q25	2014-09-17			ENSG00000116711	ENSG00000116711	3.1.1.4, 3.1.1.5		9035	protein-coding gene	gene with protein product		600522		PLA2G4		8175726	Standard	NM_024420		Approved	cPLA2-alpha	uc001gsc.3	P47712	OTTHUMG00000035512	ENST00000367466.3:c.1132G>A	1.37:g.186915867G>A	ENSP00000356436:p.Val378Ile					PLA2G4A_ENST00000442353.2_Missense_Mutation_p.V318I	p.V378I	NM_024420.2	NP_077734.1	P47712	PA24A_HUMAN			11	1284	+			378			PLA2c.		B1AKG4|Q29R80	Missense_Mutation	SNP	ENST00000367466.3	37	c.1132G>A	CCDS1372.1	.	.	.	.	.	.	.	.	.	.	G	13.09	2.132144	0.37630	.	.	ENSG00000116711	ENST00000367466;ENST00000442353	T;T	0.05025	3.51;3.51	5.91	5.91	0.95273	Acyl transferase/acyl hydrolase/lysophospholipase (1);Lysophospholipase, catalytic domain (3);	0.109197	0.64402	D	0.000008	T	0.05364	0.0142	N	0.26042	0.785	0.46678	D	0.999154	B;B	0.24882	0.113;0.094	B;B	0.21360	0.034;0.024	T	0.48043	-0.9069	10	0.20046	T	0.44	-19.3515	12.5706	0.56334	0.0749:0.0:0.9251:0.0	.	318;378	E7EU42;P47712	.;PA24A_HUMAN	I	378;318	ENSP00000356436:V378I;ENSP00000406892:V318I	ENSP00000356436:V378I	V	+	1	0	PLA2G4A	185182490	1.000000	0.71417	1.000000	0.80357	0.905000	0.53344	6.657000	0.74402	2.793000	0.96121	0.655000	0.94253	GTT		0.338	PLA2G4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086236.1	NM_024420		21	117	0	0	0	1	0	21	117					A	186915867	G	A	186915867	3	1	61	1	0	0	0	0	1	0	0	0	12001	1145	40	1	1170	1	PLA2G4A	1	186915867	Missense_Mutation	SNP	G	TCGA-EJ-5512-01A-01D-1576-08	28246030	186915867	62334754	2	3114											
C2orf85	285093	broad.mit.edu	37	chr2	242814788	242814788	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggagcccaccgatggccctGtggccactaaagaggcctcc	8	5	12	16	2	0	1	0	0	0	1	1	3	1	2	6	4	1	0	6	4	2	1			TCGA-EJ-5512-01A-01D-1576-08	TCGA-EJ-5512-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49224380-bffd-4048-93a7-fb4b19285c35	05c383c1-ef34-477c-b518-2b48a62f2443	g.chr2:242814788G>T	ENST00000343216.3	+	2	1109	c.1081G>T	c.(1081-1083)Gtg>Ttg	p.V361L		NM_173821.2	NP_776182.2												p.V361L(1)									CGATGGCCCTGTGGCCACTAA	0.622																																						ENST00000343216.3																			1	Substitution - Missense(1)	p.V361L(1)	lung(1)								c.(1081-1083)Gtg>Ttg		CXXC finger protein 11							30	34	32					2																	242814788		1980	4139	6119	SO:0001583	missense	285093					integral to membrane		g.chr2:242814788G>T																												ENST00000343216.3:c.1081G>T	2.37:g.242814788G>T	ENSP00000345374:p.Val361Leu						p.V361L	NM_173821.2	NP_776182.2	Q14D33	CB085_HUMAN			2	1109	+			361						Missense_Mutation	SNP	ENST00000343216.3	37	c.1081G>T	CCDS42843.1	.	.	.	.	.	.	.	.	.	.	.	7.638	0.680305	0.14907	.	.	ENSG00000188011	ENST00000343216	T	0.26223	1.75	2.77	-5.53	0.02552	.	.	.	.	.	T	0.08537	0.0212	N	0.08118	0	0.09310	N	1	B	0.26195	0.144	B	0.16289	0.015	T	0.21109	-1.0255	9	0.45353	T	0.12	-3.8835	1.1292	0.01742	0.3965:0.1472:0.3086:0.1477	.	361	Q14D33	CB085_HUMAN	L	361	ENSP00000345374:V361L	ENSP00000345374:V361L	V	+	1	0	C2orf85	242463461	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-2.777000	0.00775	-1.173000	0.02758	-0.390000	0.06520	GTG		0.622	CXXC11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322310.1			4	41	1	0	5.18039e-06	1	6.06485e-06	4	41					T	242814788	G	T	242814788	3	4	61	1	0	0	0	0	1	0	0	0	2200	1377	48	5	1087	5	C2orf85	2	242814788	Missense_Mutation	SNP	G	TCGA-EJ-5512-01A-01D-1576-08		242814788	384585	3	3115											
TM4SF18	116441	broad.mit.edu	37	chr3	149040066	149040066	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagatcactgaatagcttcCacacagtatcttggatagtt	13	12	8	8	0	2	2	1	1	1	1	3	4	3	3	1	1	1	3	1	1	5	6			TCGA-EJ-5512-01A-01D-1576-08	TCGA-EJ-5512-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49224380-bffd-4048-93a7-fb4b19285c35	05c383c1-ef34-477c-b518-2b48a62f2443	g.chr3:149040066C>A	ENST00000296059.2	-	5	833	c.568G>T	c.(568-570)Gga>Tga	p.G190*	RP11-206M11.7_ENST00000489011.1_RNA|TM4SF18_ENST00000470080.1_Nonsense_Mutation_p.G190*	NM_138786.3	NP_620141.1	Q96CE8	T4S18_HUMAN	transmembrane 4 L six family member 18	190						integral component of membrane (GO:0016021)		p.G190*(1)		lung(1)|ovary(1)|prostate(1)	3			LUSC - Lung squamous cell carcinoma(72;0.0378)|Lung(72;0.048)			GAATAGCTTCCACACAGTATC	0.428																																						ENST00000296059.2																			1	Substitution - Nonsense(1)	p.G190*(1)	prostate(1)	lung(1)|ovary(1)|prostate(1)	3						c.(568-570)Gga>Tga		transmembrane 4 L six family member 18							104	96	99					3																	149040066		2203	4300	6503	SO:0001587	stop_gained	116441					integral to membrane		g.chr3:149040066C>A	BC014339	CCDS3142.1	3q25.1	2005-08-09			ENSG00000163762	ENSG00000163762			25181	protein-coding gene	gene with protein product						10975581	Standard	NM_001184723		Approved	L6D	uc021xfl.1	Q96CE8	OTTHUMG00000159582	ENST00000296059.2:c.568G>T	3.37:g.149040066C>A	ENSP00000296059:p.Gly190*					TM4SF18_ENST00000470080.1_Nonsense_Mutation_p.G190*|RP11-206M11.7_ENST00000489011.1_RNA	p.G190*	NM_138786.3	NP_620141.1	Q96CE8	T4S18_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0378)|Lung(72;0.048)		5	833	-			190					B2R8K0|D3DNH5	Nonsense_Mutation	SNP	ENST00000296059.2	37	c.568G>T	CCDS3142.1	.	.	.	.	.	.	.	.	.	.	C	16.64	3.179999	0.57800	.	.	ENSG00000163762	ENST00000296059;ENST00000470080	.	.	.	5.51	3.38	0.38709	.	0.345327	0.30879	N	0.008700	.	.	.	.	.	.	0.39433	D	0.967117	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	-7.0216	11.2203	0.48851	0.0:0.8269:0.0:0.1731	.	.	.	.	X	190	.	ENSP00000296059:G190X	G	-	1	0	TM4SF18	150522756	1.000000	0.71417	0.996000	0.52242	0.431000	0.31685	1.987000	0.40687	1.323000	0.45263	0.650000	0.86243	GGA		0.428	TM4SF18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356326.1	NM_138786		3	83	1	0	0.004672	1	0.00521526	3	83					A	149040066	C	A	149040066	4	1	61	1	0	0	0	0	0	1	0	0	15964	603	21	5	45	5	TM4SF18	3	149040066	Nonsense_Mutation	SNP	C	TCGA-EJ-5512-01A-01D-1576-08		149040066	48982364	4	3116											
BMP2K	55589	broad.mit.edu	37	chr4	79792164	79792166	+	In_Frame_Del	DEL	CAC	CAC	-																															agcagcagcagcagcagcagCaccaccaccaccaccaccac																								rs202184856|rs200441916	byFrequency	TCGA-EJ-5512-01A-01D-1576-08	TCGA-EJ-5512-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49224380-bffd-4048-93a7-fb4b19285c35	05c383c1-ef34-477c-b518-2b48a62f2443	g.chr4:79792164_79792166delCAC	ENST00000335016.5	+	11	1625_1627	c.1459_1461delCAC	c.(1459-1461)cacdel	p.H494del	BMP2K_ENST00000502871.1_In_Frame_Del_p.H494del	NM_198892.1	NP_942595.1	Q9NSY1	BMP2K_HUMAN	BMP2 inducible kinase	494	Gln/His-rich.				regulation of bone mineralization (GO:0030500)	nucleus (GO:0005634)	ATP binding (GO:0005524)|phosphatase regulator activity (GO:0019208)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	13						gcagcagcagcaccaccaccacc	0.502																																						ENST00000335016.5																			0				NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	13						c.(1459-1461)del		BMP2 inducible kinase																																				SO:0001651	inframe_deletion	55589					nucleus	ATP binding|protein serine/threonine kinase activity	g.chr4:79792164_79792166delCAC	AB015331	CCDS34019.1, CCDS47083.1	4q21.21	2008-05-15			ENSG00000138756	ENSG00000138756			18041	protein-coding gene	gene with protein product							Standard	NM_017593		Approved	DKFZp434K0614, BIKe	uc003hlk.3	Q9NSY1	OTTHUMG00000160900	ENST00000335016.5:c.1459_1461delCAC	4.37:g.79792173_79792175delCAC	ENSP00000334836:p.His494del					BMP2K_ENST00000502871.1_In_Frame_Del_p.H494del	p.H494del	NM_198892.1	NP_942595.1	Q9NSY1	BMP2K_HUMAN			11	1625_1627	+			494			Gln/His-rich.		O94791|Q4W5H2|Q8IYF2|Q8N2G7|Q8NHG9|Q9NTG8	In_Frame_Del	DEL	ENST00000335016.5	37	c.1459_1461delCAC	CCDS47083.1																																																																																				0.502	BMP2K-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_017593		8	68						8	68	---	---	---	---	-	79792166	CAC	-	79792164	7	5	61	1	0	1	0	1	0	0	0	0	1460	710	25	0	1501	0	BMP2K	4	79792164	In_Frame_Del	DEL	CAC	TCGA-EJ-5512-01A-01D-1576-08		79792164	111362112	5	3117											
GRID2	2895	broad.mit.edu	37	chr4	94006409	94006409	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atgcctggcagaaattcattAtattctatgatagtgaatac	14	14	7	6	0	2	3	1	2	1	1	2	3	2	3	1	1	2	1	1	1	7	7			TCGA-EJ-5512-01A-01D-1576-08	TCGA-EJ-5512-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49224380-bffd-4048-93a7-fb4b19285c35	05c383c1-ef34-477c-b518-2b48a62f2443	g.chr4:94006409A>G	ENST00000282020.4	+	3	766	c.508A>G	c.(508-510)Ata>Gta	p.I170V	GRID2_ENST00000510992.1_Intron|GRID2_ENST00000505687.1_3'UTR	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	170					cellular protein localization (GO:0034613)|cerebellar granule cell differentiation (GO:0021707)|glutamate receptor signaling pathway (GO:0007215)|heterophilic cell-cell adhesion (GO:0007157)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|prepulse inhibition (GO:0060134)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of neuron apoptotic process (GO:0043523)|regulation of neuron projection development (GO:0010975)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|ionotropic glutamate receptor complex (GO:0008328)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|ionotropic glutamate receptor activity (GO:0004970)|PDZ domain binding (GO:0030165)|scaffold protein binding (GO:0097110)	p.I170V(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)		GAAATTCATTATATTCTATGA	0.353																																						ENST00000282020.4																			1	Substitution - Missense(1)	p.I170V(1)	prostate(1)	NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100						c.(508-510)Ata>Gta		glutamate receptor, ionotropic, delta 2	L-Glutamic Acid(DB00142)						96	98	97					4																	94006409		2203	4300	6503	SO:0001583	missense	2895				glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity	g.chr4:94006409A>G	AF009014	CCDS3637.1, CCDS68758.1	4q22	2012-08-29			ENSG00000152208	ENSG00000152208		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4576	protein-coding gene	gene with protein product		602368				9465309	Standard	NM_001510		Approved	GluD2, GluR-delta-2	uc011cdt.2	O43424	OTTHUMG00000130975	ENST00000282020.4:c.508A>G	4.37:g.94006409A>G	ENSP00000282020:p.Ile170Val					GRID2_ENST00000505687.1_3'UTR|GRID2_ENST00000510992.1_Intron	p.I170V	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	3	766	+		Hepatocellular(203;0.114)|all_hematologic(202;0.177)	170					E9PH24|Q4KKU8|Q4KKU9|Q4KKV0|Q59FZ1	Missense_Mutation	SNP	ENST00000282020.4	37	c.508A>G	CCDS3637.1	.	.	.	.	.	.	.	.	.	.	A	2.844	-0.239903	0.05944	.	.	ENSG00000152208	ENST00000282020	D	0.82167	-1.58	5.23	5.23	0.72850	Extracellular ligand-binding receptor (1);	0.052428	0.85682	D	0.000000	T	0.61887	0.2383	N	0.08118	0	0.80722	D	1	B;B	0.06786	0.0;0.001	B;B	0.04013	0.001;0.001	T	0.58335	-0.7654	10	0.05436	T	0.98	.	9.8859	0.41262	0.9233:0.0:0.0767:0.0	.	170;111	O43424;B4DYB9	GRID2_HUMAN;.	V	170	ENSP00000282020:I170V	ENSP00000282020:I170V	I	+	1	0	GRID2	94225432	0.972000	0.33761	1.000000	0.80357	0.996000	0.88848	2.475000	0.45162	2.112000	0.64535	0.533000	0.62120	ATA		0.353	GRID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253588.2			4	347	0	0	0	1	0	4	347					G	94006409	A	G	94006409	3	3	61	1	0	0	0	0	1	0	0	0	6772	449	16	4	518	4	GRID2	4	94006409	Missense_Mutation	SNP	A	TCGA-EJ-5512-01A-01D-1576-08	14214245	94006409	97147867	6	3118											
SLC36A2	153201	broad.mit.edu	37	chr5	150701741	150701741	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gggcataggtgcacaggatgCcggcaatgtagagaagcttg	11	7	16	7	1	0	1	0	0	0	1	0	3	0	2	1	4	3	5	1	4	4	3			TCGA-EJ-5512-01A-01D-1576-08	TCGA-EJ-5512-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49224380-bffd-4048-93a7-fb4b19285c35	05c383c1-ef34-477c-b518-2b48a62f2443	g.chr5:150701741C>T	ENST00000335244.4	-	9	1175	c.1046G>A	c.(1045-1047)gGc>gAc	p.G349D	SLC36A2_ENST00000521967.1_Missense_Mutation_p.G349D|SLC36A2_ENST00000450886.1_Missense_Mutation_p.G73D	NM_181776.2	NP_861441.2	Q495M3	S36A2_HUMAN	solute carrier family 36 (proton/amino acid symporter), member 2	349					amino acid transport (GO:0006865)|ion transport (GO:0006811)|proline transmembrane transport (GO:0035524)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	glycine transmembrane transporter activity (GO:0015187)|hydrogen:amino acid symporter activity (GO:0005280)|L-alanine transmembrane transporter activity (GO:0015180)|L-proline transmembrane transporter activity (GO:0015193)	p.G349D(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(14)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	33		Medulloblastoma(196;0.109)|all_hematologic(541;0.243)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Cycloserine(DB00260)	GCACAGGATGCCGGCAATGTA	0.562																																						ENST00000335244.4																			1	Substitution - Missense(1)	p.G349D(1)	prostate(1)	breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(14)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	33						c.(1045-1047)gGc>gAc		solute carrier family 36 (proton/amino acid symporter), member 2							129	115	120					5																	150701741		2203	4300	6503	SO:0001583	missense	153201				cellular nitrogen compound metabolic process	cytoplasm|integral to membrane|plasma membrane	glycine transmembrane transporter activity	g.chr5:150701741C>T	AY162214	CCDS4315.1	5q33.1	2013-05-22			ENSG00000186335	ENSG00000186335		"Solute carriers"	18762	protein-coding gene	gene with protein product		608331				11959859	Standard	NM_181776		Approved	PAT2, tramdorin, TRAMD1	uc003lty.3	Q495M3	OTTHUMG00000130129	ENST00000335244.4:c.1046G>A	5.37:g.150701741C>T	ENSP00000334223:p.Gly349Asp					SLC36A2_ENST00000450886.1_Missense_Mutation_p.G73D|SLC36A2_ENST00000521967.1_Missense_Mutation_p.G349D	p.G349D	NM_181776.2	NP_861441.2	Q495M3	S36A2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		9	1175	-		Medulloblastoma(196;0.109)|all_hematologic(541;0.243)	349					Q495M4|Q495M6|Q6ZWK5|Q7Z6B5	Missense_Mutation	SNP	ENST00000335244.4	37	c.1046G>A	CCDS4315.1	.	.	.	.	.	.	.	.	.	.	C	30	5.055331	0.93793	.	.	ENSG00000186335	ENST00000335244;ENST00000450886;ENST00000521967	T;T;T	0.02280	4.36;4.36;4.36	4.76	4.76	0.60689	.	0.155915	0.56097	D	0.000030	T	0.18841	0.0452	M	0.93106	3.38	0.80722	D	1	D;P	0.71674	0.998;0.868	D;P	0.79108	0.992;0.695	T	0.03910	-1.0993	10	0.62326	D	0.03	-29.6615	18.3127	0.90206	0.0:1.0:0.0:0.0	.	349;349	E5RJJ5;Q495M3	.;S36A2_HUMAN	D	349;73;349	ENSP00000334223:G349D;ENSP00000399479:G73D;ENSP00000430535:G349D	ENSP00000334223:G349D	G	-	2	0	SLC36A2	150681934	1.000000	0.71417	0.958000	0.39756	0.963000	0.63663	7.305000	0.78891	2.621000	0.88768	0.563000	0.77884	GGC		0.562	SLC36A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252437.1			3	80	0	0	0	1	0	3	80					T	150701741	C	T	150701741	3	4	61	1	0	0	0	0	1	0	0	0	14594	739	26	3	413	3	SLC36A2	5	150701741	Missense_Mutation	SNP	C	TCGA-EJ-5512-01A-01D-1576-08		150701741	30213519	7	3119											
SERPINB9	5272	broad.mit.edu	37	chr6	2896330	2896330	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctccaaagagcctgttggccGttctcagcaggtactgtgtg	7	11	12	11	1	1	1	1	0	1	1	3	1	2	1	3	2	3	4	3	2	2	3			TCGA-EJ-5512-01A-01D-1576-08	TCGA-EJ-5512-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49224380-bffd-4048-93a7-fb4b19285c35	05c383c1-ef34-477c-b518-2b48a62f2443	g.chr6:2896330G>A	ENST00000380698.4	-	3	352	c.263C>T	c.(262-264)aCg>aTg	p.T88M		NM_004155.5	NP_004146.1	P50453	SPB9_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 9	88					cellular response to estrogen stimulus (GO:0071391)|immune response (GO:0006955)|mast cell mediated immunity (GO:0002448)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|protease binding (GO:0002020)|serine-type endopeptidase inhibitor activity (GO:0004867)	p.T88M(1)		breast(1)|endometrium(4)|large_intestine(3)|lung(5)|pancreas(1)|prostate(1)	15	Ovarian(93;0.0412)	all_hematologic(90;0.108)				CCTGTTGGCCGTTCTCAGCAG	0.443																																						ENST00000380698.4																			1	Substitution - Missense(1)	p.T88M(1)	prostate(1)	breast(1)|endometrium(4)|large_intestine(3)|lung(5)|pancreas(1)|prostate(1)	15						c.(262-264)aCg>aTg		serpin peptidase inhibitor, clade B (ovalbumin), member 9							103	102	102					6																	2896330		2203	4300	6503	SO:0001583	missense	5272				anti-apoptosis|cellular response to estrogen stimulus|immune response|mast cell mediated immunity|regulation of proteolysis	cytosol|extracellular space|nucleus	caspase inhibitor activity|protease binding|serine-type endopeptidase inhibitor activity	g.chr6:2896330G>A	L40378	CCDS4478.1	6p25.2	2014-02-18	2005-08-18		ENSG00000170542	ENSG00000170542		"Serine (or cysteine) peptidase inhibitors"	8955	protein-coding gene	gene with protein product		601799	"serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 9"	PI9		8530382, 9858835, 24172014	Standard	NM_004155		Approved	CAP3	uc003mug.4	P50453	OTTHUMG00000014131	ENST00000380698.4:c.263C>T	6.37:g.2896330G>A	ENSP00000370074:p.Thr88Met						p.T88M	NM_004155.5	NP_004146.1	P50453	SPB9_HUMAN			3	352	-	Ovarian(93;0.0412)	all_hematologic(90;0.108)	88					B2RBW3|Q5TD03	Missense_Mutation	SNP	ENST00000380698.4	37	c.263C>T	CCDS4478.1	.	.	.	.	.	.	.	.	.	.	G	10.09	1.255467	0.22965	.	.	ENSG00000170542	ENST00000380698	D	0.84223	-1.82	4.21	-1.66	0.08265	Serpin domain (3);	0.499849	0.23863	N	0.043836	T	0.55226	0.1907	N	0.25992	0.78	0.09310	N	1	P	0.37864	0.61	B	0.35770	0.21	T	0.56631	-0.7947	10	0.33141	T	0.24	.	9.7461	0.40448	0.5192:0.0:0.4808:0.0	.	88	P50453	SPB9_HUMAN	M	88	ENSP00000370074:T88M	ENSP00000370074:T88M	T	-	2	0	SERPINB9	2841329	0.000000	0.05858	0.000000	0.03702	0.028000	0.11728	0.081000	0.14823	-0.246000	0.09611	-0.136000	0.14681	ACG		0.443	SERPINB9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039656.1			6	206	0	0	0	1	0	6	206					A	2896330	G	A	2896330	3	1	61	1	0	0	0	0	1	0	0	0	14108	1145	40	1	887	1	SERPINB9	6	2896330	Missense_Mutation	SNP	G	TCGA-EJ-5512-01A-01D-1576-08		2896330	168218737	8	3120											
C6orf165	154313	broad.mit.edu	37	chr6	88138375	88138375	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tgcactttctactctgtggaCcagcttgcaagacgaaacta	11	11	8	11	1	2	1	0	0	2	1	2	3	2	2	1	1	5	3	1	1	4	4			TCGA-EJ-5512-01A-01D-1576-08	TCGA-EJ-5512-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49224380-bffd-4048-93a7-fb4b19285c35	05c383c1-ef34-477c-b518-2b48a62f2443	g.chr6:88138375C>G	ENST00000507897.1	+	9	1075	c.992C>G	c.(991-993)aCc>aGc	p.T331S	C6ORF165_ENST00000369562.4_Missense_Mutation_p.T331S			Q8IYR0	CF165_HUMAN	chromosome 6 open reading frame 165	331								p.T331S(2)		NS(1)|central_nervous_system(1)|large_intestine(5)|lung(8)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575)		BRCA - Breast invasive adenocarcinoma(108;0.0419)		ACTCTGTGGACCAGCTTGCAA	0.368																																						ENST00000507897.1																			2	Substitution - Missense(2)	p.T331S(2)	prostate(2)	NS(1)|central_nervous_system(1)|large_intestine(5)|lung(8)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(991-993)aCc>aGc		chromosome 6 open reading frame 165							192	178	183					6																	88138375		2203	4300	6503	SO:0001583	missense	154313							g.chr6:88138375C>G	BC035083	CCDS34498.1	6q15	2012-02-07			ENSG00000213204	ENSG00000213204			21405	protein-coding gene	gene with protein product							Standard	NM_001031743		Approved	FLJ25974, dJ382I10.1	uc003plv.3	Q8IYR0	OTTHUMG00000015173	ENST00000507897.1:c.992C>G	6.37:g.88138375C>G	ENSP00000426769:p.Thr331Ser					C6ORF165_ENST00000369562.4_Missense_Mutation_p.T331S	p.T331S			Q8IYR0	CF165_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0419)	9	1075	+		all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575)	331					A8K969|E1P507|Q8N9U4	Missense_Mutation	SNP	ENST00000507897.1	37	c.992C>G	CCDS34498.1	.	.	.	.	.	.	.	.	.	.	C	0.890	-0.725849	0.03158	.	.	ENSG00000213204	ENST00000369562	T	0.29655	1.56	5.09	3.21	0.36854	.	0.400598	0.29602	N	0.011698	T	0.05731	0.0150	L	0.28192	0.835	0.19300	N	0.999972	B	0.15930	0.015	B	0.17433	0.018	T	0.42050	-0.9474	10	0.09590	T	0.72	.	7.821	0.29288	0.3054:0.6188:0.0:0.0758	.	331	Q8IYR0	CF165_HUMAN	S	331	ENSP00000358575:T331S	ENSP00000358575:T331S	T	+	2	0	C6orf165	88195094	0.879000	0.30193	0.737000	0.30932	0.194000	0.23727	1.560000	0.36331	0.437000	0.26423	0.650000	0.86243	ACC		0.368	C6orf165-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	nonsense_mediated_decay	protein_coding	OTTHUMT00000470406.1	NM_178823		35	346	0	0	0	1	0	35	346					G	88138375	C	G	88138375	3	3	61	1	0	0	0	0	1	0	0	0	2341	507	18	5	1022	5	C6orf165	6	88138375	Missense_Mutation	SNP	C	TCGA-EJ-5512-01A-01D-1576-08	85242045	88138375	82976692	9	3121											
ATG5	9474	broad.mit.edu	37	chr6	106764041	106764041	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtgaaacaagttggaattcGtccaaaccacacatctcgaa	15	8	7	11	3	1	1	0	1	1	0	4	3	2	2	2	1	2	1	2	1	5	2			TCGA-EJ-5512-01A-01D-1576-08	TCGA-EJ-5512-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49224380-bffd-4048-93a7-fb4b19285c35	05c383c1-ef34-477c-b518-2b48a62f2443	g.chr6:106764041G>A	ENST00000369076.3	-	2	366	c.43C>T	c.(43-45)Cga>Tga	p.R15*	ATG5_ENST00000369070.1_De_novo_Start_OutOfFrame|ATG5_ENST00000343245.3_Nonsense_Mutation_p.R15*|ATG5_ENST00000360666.4_Nonsense_Mutation_p.R15*	NM_004849.2	NP_004840.1	Q9H1Y0	ATG5_HUMAN	autophagy related 5	15					apoptotic process (GO:0006915)|autophagic vacuole assembly (GO:0000045)|autophagy (GO:0006914)|blood vessel remodeling (GO:0001974)|heart contraction (GO:0060047)|innate immune response (GO:0045087)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of type I interferon production (GO:0032480)|negative stranded viral RNA replication (GO:0039689)|otolith development (GO:0048840)|post-translational protein modification (GO:0043687)|regulation of cilium assembly (GO:1902017)|regulation of cytokine secretion involved in immune response (GO:0002739)|response to drug (GO:0042493)|response to fungus (GO:0009620)|vasodilation (GO:0042311)|ventricular cardiac muscle cell development (GO:0055015)	autophagic vacuole (GO:0005776)|axoneme (GO:0005930)|cytoplasm (GO:0005737)|membrane (GO:0016020)|pre-autophagosomal structure membrane (GO:0034045)		p.R15*(1)		endometrium(1)|large_intestine(5)|lung(1)|prostate(1)	8	Breast(9;0.0296)	all_cancers(87;0.000301)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.0612)|Lung NSC(302;0.216)	BRCA - Breast invasive adenocarcinoma(8;0.00802)	OV - Ovarian serous cystadenocarcinoma(136;0.128)|Epithelial(106;0.159)|all cancers(137;0.18)		GTTGGAATTCGTCCAAACCAC	0.378																																						ENST00000369076.3																			1	Substitution - Nonsense(1)	p.R15*(1)	prostate(1)	endometrium(1)|large_intestine(5)|lung(1)|prostate(1)	8						c.(43-45)Cga>Tga		autophagy related 5							230	206	214					6																	106764041		2203	4300	6503	SO:0001587	stop_gained	9474				apoptosis|autophagic vacuole assembly|negative regulation of type I interferon production|post-translational protein modification	autophagic vacuole|pre-autophagosomal structure membrane	protein binding	g.chr6:106764041G>A	Y11588	CCDS5055.1, CCDS69159.1, CCDS75498.1	6q21	2014-02-12	2012-06-06	2005-09-11	ENSG00000057663	ENSG00000057663			589	protein-coding gene	gene with protein product		604261	"APG5 (autophagy 5, S. cerevisiae)-like", "APG5 autophagy 5-like (S. cerevisiae)", "ATG5 autophagy related 5 homolog (S. cerevisiae)"	APG5L		9563500, 11349150, 15778222	Standard	NM_001286111		Approved	ASP, APG5, hAPG5	uc003prf.3	Q9H1Y0	OTTHUMG00000016193	ENST00000369076.3:c.43C>T	6.37:g.106764041G>A	ENSP00000358072:p.Arg15*					ATG5_ENST00000343245.3_Nonsense_Mutation_p.R15*|ATG5_ENST00000360666.4_Nonsense_Mutation_p.R15*|ATG5_ENST00000369070.1_De_novo_Start_OutOfFrame	p.R15*	NM_004849.2	NP_004840.1	Q9H1Y0	ATG5_HUMAN	BRCA - Breast invasive adenocarcinoma(8;0.00802)	OV - Ovarian serous cystadenocarcinoma(136;0.128)|Epithelial(106;0.159)|all cancers(137;0.18)	2	366	-	Breast(9;0.0296)	all_cancers(87;0.000301)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.0612)|Lung NSC(302;0.216)	15					O60875|Q5JVR2|Q68DI4|Q9H2B8|Q9HCZ7	Nonsense_Mutation	SNP	ENST00000369076.3	37	c.43C>T	CCDS5055.1	.	.	.	.	.	.	.	.	.	.	G	38	7.257072	0.98168	.	.	ENSG00000057663	ENST00000369076;ENST00000343245;ENST00000360666	.	.	.	5.15	4.28	0.50868	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	5.4776	13.7184	0.62712	0.0748:0.0:0.9252:0.0	.	.	.	.	X	15	.	ENSP00000343313:R15X	R	-	1	2	ATG5	106870734	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.457000	0.80775	1.159000	0.42565	0.655000	0.94253	CGA		0.378	ATG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043476.1	NM_004849		42	234	0	0	0	1	0	42	234					A	106764041	G	A	106764041	4	1	61	1	0	0	0	0	0	1	0	0	1100	1153	40	1	812	1	ATG5	6	106764041	Nonsense_Mutation	SNP	G	TCGA-EJ-5512-01A-01D-1576-08	18625666	106764041	64351026	10	3122											
CYP3A43	64816	broad.mit.edu	37	chr7	99441785	99441785	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ggctgtatgaggggcaacagCccatgctggtcatcatggat	9	9	14	9	0	2	1	2	1	0	0	2	2	2	2	1	5	3	4	1	5	2	1			TCGA-EJ-5512-01A-01D-1576-08	TCGA-EJ-5512-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49224380-bffd-4048-93a7-fb4b19285c35	05c383c1-ef34-477c-b518-2b48a62f2443	g.chr7:99441785C>A	ENST00000354829.2	+	4	341	c.238C>A	c.(238-240)Ccc>Acc	p.P80T	CYP3A43_ENST00000444905.1_Intron|CYP3A43_ENST00000342499.4_Intron|CYP3A43_ENST00000415413.1_Intron|CYP3A43_ENST00000477658.1_Intron|CYP3A43_ENST00000312017.5_Missense_Mutation_p.P80T|CYP3A43_ENST00000222382.5_Missense_Mutation_p.P80T|CYP3A43_ENST00000417625.1_Intron	NM_022820.3|NM_057095.1	NP_073731.1|NP_476436.1	Q9HB55	CP343_HUMAN	cytochrome P450, family 3, subfamily A, polypeptide 43	80			YGTHSHKLFKKLGIPGPTPLPFLGTILFYLRGLWNFDRECN EKYGEMWGLYEGQQPMLVIMDPD -> LGPIHINFLRSWEF LGQPLCLFWELFCSTLGVFGILTENVMKNTEKCGGCMRGNS PCWSSWIPT (in allele CYP3A43*2).		small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)	p.P80T(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(1)	19	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)				Dexamethasone(DB01234)|Dolutegravir(DB08930)|Ethosuximide(DB00593)|Oxazepam(DB00842)|Phenelzine(DB00780)|Praziquantel(DB01058)|Rifampicin(DB01045)|Rifapentine(DB01201)|Testosterone(DB00624)|Troleandomycin(DB01361)|Zalcitabine(DB00943)	GGGGCAACAGCCCATGCTGGT	0.458																																						ENST00000354829.2																			1	Substitution - Missense(1)	p.P80T(1)	prostate(1)	breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(1)	19						c.(238-240)Ccc>Acc		cytochrome P450, family 3, subfamily A, polypeptide 43	Cetirizine(DB00341)|Doxycycline(DB00254)						88	78	81					7																	99441785		2203	4300	6503	SO:0001583	missense	64816				xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding	g.chr7:99441785C>A	AF319634	CCDS5675.1, CCDS5676.1, CCDS5677.1, CCDS64723.1	7q21.1	2007-12-14	2003-01-14		ENSG00000021461	ENSG00000021461		"Cytochrome P450s"	17450	protein-coding gene	gene with protein product		606534	"cytochrome P450, subfamily IIIA, polypeptide 43"			11160876, 11266076	Standard	NM_022820		Approved		uc003ury.1	Q9HB55	OTTHUMG00000156498	ENST00000354829.2:c.238C>A	7.37:g.99441785C>A	ENSP00000346887:p.Pro80Thr					CYP3A43_ENST00000444905.1_Intron|CYP3A43_ENST00000415413.1_Intron|CYP3A43_ENST00000477658.1_Intron|CYP3A43_ENST00000342499.4_Intron|CYP3A43_ENST00000417625.1_Intron|CYP3A43_ENST00000312017.5_Missense_Mutation_p.P80T|CYP3A43_ENST00000222382.5_Missense_Mutation_p.P80T	p.P80T	NM_022820.3|NM_057095.1	NP_073731.1|NP_476436.1	Q9HB55	CP343_HUMAN			4	341	+	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)		80		YGTHSHKLFKKLGIPGPTPLPFLGTILFYLRGLWNFDRECN EKYGEMWGLYEGQQPMLVIMDPD -> LGPIHINFLRSWEF LGQPLCLFWELFCSTLGVFGILTENVMKNTEKCGGCMRGNS PCWSSWIPT (in allele CYP3A43*2).			Q495Y1|Q75MK2|Q75MK3|Q9HB52|Q9HB53|Q9HB54|Q9HB57	Missense_Mutation	SNP	ENST00000354829.2	37	c.238C>A	CCDS5676.1	.	.	.	.	.	.	.	.	.	.	C	14.04	2.416168	0.42918	.	.	ENSG00000021461	ENST00000354829;ENST00000312017;ENST00000222382	T;T;T	0.71103	-0.54;-0.54;-0.54	2.76	0.49	0.16861	.	0.124003	0.56097	D	0.000035	D	0.84853	0.5564	H	0.95224	3.64	0.41837	D	0.990107	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.997;0.997;0.999	T	0.82331	-0.0510	10	0.87932	D	0	.	5.2601	0.15567	0.0:0.6474:0.2113:0.1413	.	80;80;80	Q9HB55-3;Q75MK2;Q9HB55	.;.;CP343_HUMAN	T	80	ENSP00000346887:P80T;ENSP00000312110:P80T;ENSP00000222382:P80T	ENSP00000222382:P80T	P	+	1	0	CYP3A43	99279721	0.652000	0.27349	0.002000	0.10522	0.186000	0.23388	2.199000	0.42715	0.433000	0.26313	0.205000	0.17691	CCC		0.458	CYP3A43-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000344379.1			4	82	1	0	0.00909568	1	0.00992256	4	82					A	99441785	C	A	99441785	3	1	61	1	0	0	0	0	1	0	0	0	4179	739	26	5	252	5	CYP3A43	7	99441785	Missense_Mutation	SNP	C	TCGA-EJ-5512-01A-01D-1576-08		99441785	59696878	11	3123											
AGK	55750	broad.mit.edu	37	chr7	141315346	141315346	+	Nonsense_Mutation	SNP	G	G	T																															tgagtcataccctctttgccGaaagtggaaacaaagtccag																								rs141323107		TCGA-EJ-5512-01A-01D-1576-08	TCGA-EJ-5512-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49224380-bffd-4048-93a7-fb4b19285c35	05c383c1-ef34-477c-b518-2b48a62f2443	g.chr7:141315346G>T	ENST00000355413.4	+	8	759	c.499G>T	c.(499-501)Gaa>Taa	p.E167*	AGK_ENST00000535825.1_Nonsense_Mutation_p.E164*|AGK_ENST00000473247.1_Nonsense_Mutation_p.E139*	NM_018238.3	NP_060708.1	Q53H12	AGK_HUMAN	acylglycerol kinase	167	DAGKc. {ECO:0000255|PROSITE- ProRule:PRU00783}.				ceramide biosynthetic process (GO:0046513)|glycerolipid metabolic process (GO:0046486)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)	intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrion (GO:0005739)	acylglycerol kinase activity (GO:0047620)|ATP binding (GO:0005524)|ceramide kinase activity (GO:0001729)|diacylglycerol kinase activity (GO:0004143)|NAD+ kinase activity (GO:0003951)	p.E167*(2)		breast(1)|endometrium(1)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(3)	17	Melanoma(164;0.0171)					CCTCTTTGCCGAAAGTGGAAA	0.443																																						ENST00000355413.4																			2	Substitution - Nonsense(2)	p.E167*(2)	prostate(2)	breast(1)|endometrium(1)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(3)	17						c.(499-501)Gaa>Taa		acylglycerol kinase							165	163	164					7																	141315346		2203	4300	6503	SO:0001587	stop_gained	55750				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway	mitochondrial membrane	acylglycerol kinase activity|ATP binding|diacylglycerol kinase activity|NAD+ kinase activity	g.chr7:141315346G>T	BC022777	CCDS5865.1	7q34	2010-05-04	2007-01-11	2007-01-11	ENSG00000006530	ENSG00000006530	2.7.1.94		21869	protein-coding gene	gene with protein product		610345	"multiple substrate lipid kinase"	MULK		15252046, 15939762, 17135245	Standard	NM_018238		Approved	FLJ10842	uc003vwi.2	Q53H12	OTTHUMG00000157499	ENST00000355413.4:c.499G>T	7.37:g.141315346G>T	ENSP00000347581:p.Glu167*					AGK_ENST00000535825.1_Nonsense_Mutation_p.E164*|AGK_ENST00000473247.1_Nonsense_Mutation_p.E139*	p.E167*	NM_018238.3	NP_060708.1	Q53H12	AGK_HUMAN			8	759	+	Melanoma(164;0.0171)		167			DAGKc.		Q75KN1|Q96GC3|Q9NP48	Nonsense_Mutation	SNP	ENST00000355413.4	37	c.499G>T	CCDS5865.1	.	.	.	.	.	.	.	.	.	.	G	33	5.218797	0.95104	.	.	ENSG00000006530	ENST00000355413;ENST00000473247;ENST00000535825	.	.	.	5.2	3.31	0.37934	.	0.397194	0.27792	N	0.017833	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.24483	T	0.36	.	10.0876	0.42428	0.1779:0.0:0.8221:0.0	.	.	.	.	X	167;139;164	.	ENSP00000347581:E167X	E	+	1	0	AGK	140961815	0.886000	0.30341	0.481000	0.27354	0.957000	0.61999	1.178000	0.31981	0.623000	0.30267	0.591000	0.81541	GAA		0.443	AGK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348969.1	NM_018238		64	323	1	0	7.75977e-34	1	1.00667e-33	64	323					T	141315346	G	T	141315346	4	4	61	1	0	0	0	0	0	1	0	0	383	1059	37	5	525	5	AGK	7	141315346	Nonsense_Mutation	SNP	G	TCGA-EJ-5512-01A-01D-1576-08	41873561	141315346	17823317	12	3124	20	2									
AGK	55750	broad.mit.edu	37	chr7	141315347	141315347	+	Missense_Mutation	SNP	A	A	T																															gagtcataccctctttgccgAaagtggaaacaaagtccagt																										TCGA-EJ-5512-01A-01D-1576-08	TCGA-EJ-5512-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49224380-bffd-4048-93a7-fb4b19285c35	05c383c1-ef34-477c-b518-2b48a62f2443	g.chr7:141315347A>T	ENST00000355413.4	+	8	760	c.500A>T	c.(499-501)gAa>gTa	p.E167V	AGK_ENST00000535825.1_Missense_Mutation_p.E164V|AGK_ENST00000473247.1_Missense_Mutation_p.E139V	NM_018238.3	NP_060708.1	Q53H12	AGK_HUMAN	acylglycerol kinase	167	DAGKc. {ECO:0000255|PROSITE- ProRule:PRU00783}.				ceramide biosynthetic process (GO:0046513)|glycerolipid metabolic process (GO:0046486)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)	intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrion (GO:0005739)	acylglycerol kinase activity (GO:0047620)|ATP binding (GO:0005524)|ceramide kinase activity (GO:0001729)|diacylglycerol kinase activity (GO:0004143)|NAD+ kinase activity (GO:0003951)	p.E167V(2)		breast(1)|endometrium(1)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(3)	17	Melanoma(164;0.0171)					CTCTTTGCCGAAAGTGGAAAC	0.443																																						ENST00000355413.4																			2	Substitution - Missense(2)	p.E167V(2)	prostate(2)	breast(1)|endometrium(1)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(3)	17						c.(499-501)gAa>gTa		acylglycerol kinase							162	161	162					7																	141315347		2203	4300	6503	SO:0001583	missense	55750				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway	mitochondrial membrane	acylglycerol kinase activity|ATP binding|diacylglycerol kinase activity|NAD+ kinase activity	g.chr7:141315347A>T	BC022777	CCDS5865.1	7q34	2010-05-04	2007-01-11	2007-01-11	ENSG00000006530	ENSG00000006530	2.7.1.94		21869	protein-coding gene	gene with protein product		610345	"multiple substrate lipid kinase"	MULK		15252046, 15939762, 17135245	Standard	NM_018238		Approved	FLJ10842	uc003vwi.2	Q53H12	OTTHUMG00000157499	ENST00000355413.4:c.500A>T	7.37:g.141315347A>T	ENSP00000347581:p.Glu167Val					AGK_ENST00000535825.1_Missense_Mutation_p.E164V|AGK_ENST00000473247.1_Missense_Mutation_p.E139V	p.E167V	NM_018238.3	NP_060708.1	Q53H12	AGK_HUMAN			8	760	+	Melanoma(164;0.0171)		167			DAGKc.		Q75KN1|Q96GC3|Q9NP48	Missense_Mutation	SNP	ENST00000355413.4	37	c.500A>T	CCDS5865.1	.	.	.	.	.	.	.	.	.	.	A	13.21	2.170600	0.38315	.	.	ENSG00000006530	ENST00000355413;ENST00000473247;ENST00000535825	T;T;T	0.22743	1.94;1.94;1.94	5.2	3.96	0.45880	ATP-NAD kinase, PpnK-type, alpha/beta (1);Diacylglycerol kinase, catalytic domain (3);	0.397194	0.27792	N	0.017833	T	0.15609	0.0376	L	0.36672	1.1	0.36007	D	0.837806	B	0.13594	0.008	B	0.19148	0.024	T	0.12268	-1.0554	10	0.16896	T	0.51	.	11.1277	0.48328	0.8456:0.1544:0.0:0.0	.	167	Q53H12	AGK_HUMAN	V	167;139;164	ENSP00000347581:E167V;ENSP00000420776:E139V;ENSP00000444349:E164V	ENSP00000347581:E167V	E	+	2	0	AGK	140961816	0.989000	0.36119	0.674000	0.29902	0.968000	0.65278	2.725000	0.47294	2.086000	0.62901	0.482000	0.46254	GAA		0.443	AGK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348969.1	NM_018238		68	321	0	0	0	1	0	68	321					T	141315347	A	T	141315347	3	4	61	1	0	0	0	0	1	0	0	0	383	246	9	5	526	5	AGK	7	141315347	Missense_Mutation	SNP	A	TCGA-EJ-5512-01A-01D-1576-08	1	141315347	17823316	13	3125	20	2									
NSMAF	8439	broad.mit.edu	37	chr8	59515931	59515931	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gtagctctcagcagtgtgctCcgccacatggtgctctgggg	5	10	14	12	1	2	0	1	0	2	0	4	0	3	0	2	3	4	5	2	3	1	1			TCGA-EJ-5512-01A-01D-1576-08	TCGA-EJ-5512-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49224380-bffd-4048-93a7-fb4b19285c35	05c383c1-ef34-477c-b518-2b48a62f2443	g.chr8:59515931C>T	ENST00000038176.3	-	13	1095	c.883G>A	c.(883-885)Gag>Aag	p.E295K	NSMAF_ENST00000519858.1_5'UTR|NSMAF_ENST00000427130.2_Missense_Mutation_p.E326K	NM_003580.3	NP_003571.2	Q92636	FAN_HUMAN	neutral sphingomyelinase (N-SMase) activation associated factor	295	BEACH. {ECO:0000255|PROSITE- ProRule:PRU00026}.				ceramide metabolic process (GO:0006672)|intracellular signal transduction (GO:0035556)|positive regulation of apoptotic process (GO:0043065)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	receptor signaling protein activity (GO:0005057)|sphingomyelin phosphodiesterase activator activity (GO:0016230)	p.E295K(1)		autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	38		all_lung(136;0.174)|Lung NSC(129;0.2)				GCAGTGTGCTCCGCCACATGG	0.552																																						ENST00000038176.3																			1	Substitution - Missense(1)	p.E295K(1)	prostate(1)	autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	38						c.(883-885)Gag>Aag		neutral sphingomyelinase (N-SMase) activation associated factor							115	90	98					8																	59515931		2203	4300	6503	SO:0001583	missense	8439				ceramide metabolic process	cytoplasm|soluble fraction	protein binding|receptor signaling protein activity	g.chr8:59515931C>T	X96586	CCDS6173.1, CCDS47864.1	8q12-q13	2013-01-10			ENSG00000035681	ENSG00000035681		"WD repeat domain containing"	8017	protein-coding gene	gene with protein product		603043				8808629, 10640829	Standard	NM_003580		Approved	FAN	uc011lee.2	Q92636	OTTHUMG00000164352	ENST00000038176.3:c.883G>A	8.37:g.59515931C>T	ENSP00000038176:p.Glu295Lys					NSMAF_ENST00000427130.2_Missense_Mutation_p.E326K|NSMAF_ENST00000519858.1_5'UTR	p.E295K	NM_003580.3	NP_003571.2	Q92636	FAN_HUMAN			13	1095	-		all_lung(136;0.174)|Lung NSC(129;0.2)	295			BEACH.		B4DFB0|E9PCH0|Q8IW26	Missense_Mutation	SNP	ENST00000038176.3	37	c.883G>A	CCDS6173.1	.	.	.	.	.	.	.	.	.	.	C	28.3	4.904363	0.92035	.	.	ENSG00000035681	ENST00000038176;ENST00000427130	T;T	0.63744	-0.06;-0.06	5.93	5.06	0.68205	BEACH domain (2);	0.000000	0.85682	D	0.000000	T	0.72179	0.3428	L	0.45422	1.42	0.51767	D	0.999937	D;P;D	0.76494	0.999;0.882;0.972	D;B;P	0.83275	0.996;0.218;0.724	T	0.71286	-0.4638	9	.	.	.	.	15.1295	0.72511	0.0:0.9326:0.0:0.0674	.	326;295;295	Q92636-2;A8K9G4;Q92636	.;.;FAN_HUMAN	K	295;326	ENSP00000038176:E295K;ENSP00000411012:E326K	.	E	-	1	0	NSMAF	59678485	1.000000	0.71417	0.897000	0.35233	0.955000	0.61496	6.062000	0.71155	1.529000	0.49120	0.655000	0.94253	GAG		0.552	NSMAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378384.1	NM_003580		23	106	0	0	0	1	0	23	106					T	59515931	C	T	59515931	3	4	61	1	0	0	0	0	1	0	0	0	10674	864	30	3	1946	3	NSMAF	8	59515931	Missense_Mutation	SNP	C	TCGA-EJ-5512-01A-01D-1576-08		59515931	86848091	14	3126											
MTSS1	9788	broad.mit.edu	37	chr8	125597387	125597387	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acttcttttttatctcttggCgggctttcttatattctaag	6	21	6	8	1	4	0	0	0	4	0	5	0	4	0	0	2	0	1	0	2	4	10			TCGA-EJ-5512-01A-01D-1576-08	TCGA-EJ-5512-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49224380-bffd-4048-93a7-fb4b19285c35	05c383c1-ef34-477c-b518-2b48a62f2443	g.chr8:125597387C>T	ENST00000518547.1	-	6	874	c.401G>A	c.(400-402)cGc>cAc	p.R134H	MTSS1_ENST00000354184.4_5'UTR|MTSS1_ENST00000378017.3_Missense_Mutation_p.R134H|MTSS1_ENST00000325064.5_Missense_Mutation_p.R134H	NM_001282971.1|NM_014751.4	NP_001269900.1|NP_055566.3	O43312	MTSS1_HUMAN	metastasis suppressor 1	134	IMD. {ECO:0000255|PROSITE- ProRule:PRU00668}.				actin cytoskeleton organization (GO:0030036)|actin filament polymerization (GO:0030041)|adherens junction maintenance (GO:0034334)|bone mineralization (GO:0030282)|cell adhesion (GO:0007155)|cellular component movement (GO:0006928)|cellular response to fluid shear stress (GO:0071498)|epithelial cell proliferation involved in renal tubule morphogenesis (GO:2001013)|filopodium assembly (GO:0046847)|glomerulus morphogenesis (GO:0072102)|in utero embryonic development (GO:0001701)|magnesium ion homeostasis (GO:0010960)|microspike assembly (GO:0030035)|negative regulation of epithelial cell proliferation (GO:0050680)|nephron tubule epithelial cell differentiation (GO:0072160)|positive regulation of actin filament bundle assembly (GO:0032233)|renal tubule morphogenesis (GO:0061333)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|ruffle (GO:0001726)	actin monomer binding (GO:0003785)|identical protein binding (GO:0042802)|receptor binding (GO:0005102)	p.R134H(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	37	Ovarian(258;0.00438)|all_neural(195;0.00459)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)			TATCTCTTGGCGGGCTTTCTT	0.363																																					Esophageal Squamous(160;622 1893 3862 8546 12509)	ENST00000518547.1																			1	Substitution - Missense(1)	p.R134H(1)	prostate(1)	breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	37						c.(400-402)cGc>cAc		metastasis suppressor 1							170	166	167					8																	125597387		2203	4300	6503	SO:0001583	missense	9788				actin cytoskeleton organization|cell adhesion|cellular component movement|filopodium assembly|transmembrane receptor protein tyrosine kinase signaling pathway	actin cytoskeleton|endocytic vesicle|ruffle	actin monomer binding|cytoskeletal adaptor activity|receptor binding|SH3 domain binding	g.chr8:125597387C>T	AF086645	CCDS6353.1, CCDS64968.1, CCDS64969.1	8p22	2008-02-05			ENSG00000170873	ENSG00000170873			20443	protein-coding gene	gene with protein product		608486				12482861, 12082544	Standard	XM_005251111		Approved	KIAA0429, MIMA, MIMB, MIM	uc003yrk.2	O43312	OTTHUMG00000048189	ENST00000518547.1:c.401G>A	8.37:g.125597387C>T	ENSP00000429064:p.Arg134His					MTSS1_ENST00000325064.5_Missense_Mutation_p.R134H|MTSS1_ENST00000354184.4_5'UTR|MTSS1_ENST00000378017.3_Missense_Mutation_p.R134H	p.R134H	NM_014751.4	NP_055566.3	O43312	MTSS1_HUMAN	STAD - Stomach adenocarcinoma(47;0.00288)		6	874	-	Ovarian(258;0.00438)|all_neural(195;0.00459)|Hepatocellular(40;0.108)		134			IMD.		J3KNK6|Q8TCA2|Q96RX2	Missense_Mutation	SNP	ENST00000518547.1	37	c.401G>A	CCDS6353.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	28.2|28.2	4.895653|4.895653	0.91962|0.91962	.|.	.|.	ENSG00000170873|ENSG00000170873	ENST00000522162|ENST00000378017;ENST00000518547;ENST00000325064	.|T;T;T	.|0.40476	.|1.05;1.12;1.03	5.31|5.31	5.31|5.31	0.75309|0.75309	.|IRSp53/MIM homology domain (IMD) (3);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.69097|0.69097	0.3073|0.3073	M|M	0.83223|0.83223	2.63|2.63	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|1.0;0.986;1.0	.|D;P;D	.|0.91635	.|0.999;0.836;0.986	T|T	0.73633|0.73633	-0.3921|-0.3921	5|10	.|0.66056	.|D	.|0.02	-18.2404|-18.2404	18.6228|18.6228	0.91327|0.91327	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|134;134;134	.|A5YM41;O43312;O43312-4	.|.;MTSS1_HUMAN;.	T|H	129|134	.|ENSP00000367256:R134H;ENSP00000429064:R134H;ENSP00000322804:R134H	.|ENSP00000322804:R134H	A|R	-|-	1|2	0|0	MTSS1|MTSS1	125666568|125666568	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	7.061000|7.061000	0.76699|0.76699	2.487000|2.487000	0.83934|0.83934	0.555000|0.555000	0.69702|0.69702	GCC|CGC		0.363	MTSS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109625.3	NM_014751		57	305	0	0	0	1	0	57	305					T	125597387	C	T	125597387	3	4	61	1	0	0	0	0	1	0	0	0	9962	768	27	1	1902	1	MTSS1	8	125597387	Missense_Mutation	SNP	C	TCGA-EJ-5512-01A-01D-1576-08	66081456	125597387	20766635	15	3127											
ADAMTSL1	92949	broad.mit.edu	37	chr9	18662047	18662047	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caaacccaagcttcaggagtGcaacttggatccttgtccag	11	9	9	12	0	1	0	1	0	0	0	3	2	3	2	3	2	4	2	3	2	3	3			TCGA-EJ-5512-01A-01D-1576-08	TCGA-EJ-5512-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49224380-bffd-4048-93a7-fb4b19285c35	05c383c1-ef34-477c-b518-2b48a62f2443	g.chr9:18662047G>A	ENST00000380548.4	+	9	1400	c.1061G>A	c.(1060-1062)tGc>tAc	p.C354Y	ADAMTSL1_ENST00000327883.7_Missense_Mutation_p.C354Y|ADAMTSL1_ENST00000380566.4_Missense_Mutation_p.C354Y|ADAMTSL1_ENST00000276935.6_Missense_Mutation_p.C354Y	NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1	354						proteinaceous extracellular matrix (GO:0005578)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.C354Y(2)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		CTTCAGGAGTGCAACTTGGAT	0.418																																						ENST00000380548.4																			2	Substitution - Missense(2)	p.C354Y(2)	prostate(2)	breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42						c.(1060-1062)tGc>tAc		ADAMTS-like 1							152	134	140					9																	18662047		2203	4300	6503	SO:0001583	missense	92949					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding	g.chr9:18662047G>A	AF176313	CCDS6485.1, CCDS47954.1	9p21.3	2013-01-11			ENSG00000178031	ENSG00000178031		"Immunoglobulin superfamily / I-set domain containing"	14632	protein-coding gene	gene with protein product	"punctin"	609198	"chromosome 9 open reading frame 94"	C9orf94		9628581, 11805097	Standard	NM_001040272		Approved	ADAMTSR1, FLJ35283	uc003zne.4	Q8N6G6	OTTHUMG00000019604	ENST00000380548.4:c.1061G>A	9.37:g.18662047G>A	ENSP00000369921:p.Cys354Tyr					ADAMTSL1_ENST00000276935.6_Missense_Mutation_p.C354Y|ADAMTSL1_ENST00000327883.7_Missense_Mutation_p.C354Y|ADAMTSL1_ENST00000380566.4_Missense_Mutation_p.C354Y	p.C354Y	NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN		GBM - Glioblastoma multiforme(50;1.29e-17)	9	1400	+			354					A6PVN1|A8K7E1|Q496M6|Q496M8|Q5T708|Q5VZT8|Q8NAI9|Q96RW4|Q9BXY3	Missense_Mutation	SNP	ENST00000380548.4	37	c.1061G>A	CCDS47954.1	.	.	.	.	.	.	.	.	.	.	G	25.0	4.596837	0.86953	.	.	ENSG00000178031	ENST00000380548;ENST00000327883;ENST00000380566;ENST00000276935	D;D;D;D	0.81659	-1.52;-1.52;-1.52;-1.52	5.49	5.49	0.81192	.	.	.	.	.	D	0.93452	0.7911	H	0.96015	3.755	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.95159	0.8280	9	0.87932	D	0	.	19.3747	0.94503	0.0:0.0:1.0:0.0	.	354;354	Q8N6G6;Q8N6G6-2	ATL1_HUMAN;.	Y	354	ENSP00000369921:C354Y;ENSP00000327887:C354Y;ENSP00000369940:C354Y;ENSP00000276935:C354Y	ENSP00000276935:C354Y	C	+	2	0	ADAMTSL1	18652047	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.807000	0.99171	2.593000	0.87608	0.655000	0.94253	TGC		0.418	ADAMTSL1-012	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401206.1			38	209	0	0	0	1	0	38	209					A	18662047	G	A	18662047	3	1	61	1	0	0	0	0	1	0	0	0	274	1319	46	3	1095	3	ADAMTSL1	9	18662047	Missense_Mutation	SNP	G	TCGA-EJ-5512-01A-01D-1576-08		18662047	122551384	16	3128											
ZNF438	220929	broad.mit.edu	37	chr10	31133925	31133925	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	actggaaagttcgatcactcCctggttggagaccgtattta	10	12	10	9	2	1	1	1	0	0	1	3	4	2	2	2	3	0	3	2	3	3	5			TCGA-EJ-5512-01A-01D-1576-08	TCGA-EJ-5512-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49224380-bffd-4048-93a7-fb4b19285c35	05c383c1-ef34-477c-b518-2b48a62f2443	g.chr10:31133925C>G	ENST00000361310.3	-	7	2781	c.2452G>C	c.(2452-2454)Gga>Cga	p.G818R	ZNF438_ENST00000413025.1_Missense_Mutation_p.G818R|ZNF438_ENST00000442986.1_Missense_Mutation_p.G818R|ZNF438_ENST00000375311.1_Missense_Mutation_p.G382R|ZNF438_ENST00000444692.2_Missense_Mutation_p.G808R|ZNF438_ENST00000436087.2_Missense_Mutation_p.G818R|ZNF438_ENST00000331737.6_Missense_Mutation_p.G808R|ZNF438_ENST00000538351.2_Missense_Mutation_p.G769R|ZNF438_ENST00000452305.1_Missense_Mutation_p.G808R			Q7Z4V0	ZN438_HUMAN	zinc finger protein 438	818					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.G818R(1)		breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(15)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(175;0.0587)				TCGATCACTCCCTGGTTGGAG	0.542																																						ENST00000538351.1																			1	Substitution - Missense(1)	p.G818R(1)	prostate(1)	breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(15)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						c.(2305-2307)Gga>Cga		zinc finger protein 438							181	182	182					10																	31133925		2203	4300	6503	SO:0001583	missense	220929				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr10:31133925C>G	AK057323	CCDS7168.1, CCDS44369.1, CCDS53504.1	10p11.23	2006-02-15			ENSG00000183621	ENSG00000183621		"Zinc fingers, C2H2-type"	21029	protein-coding gene	gene with protein product							Standard	NM_182755		Approved	bA330O11.1	uc010qeb.2	Q7Z4V0	OTTHUMG00000017904	ENST00000361310.3:c.2452G>C	10.37:g.31133925C>G	ENSP00000354663:p.Gly818Arg					ZNF438_ENST00000436087.2_Missense_Mutation_p.G818R|ZNF438_ENST00000375311.1_Missense_Mutation_p.G382R|ZNF438_ENST00000361310.3_Missense_Mutation_p.G818R|ZNF438_ENST00000413025.1_Missense_Mutation_p.G818R|ZNF438_ENST00000444692.2_Missense_Mutation_p.G808R|ZNF438_ENST00000442986.1_Missense_Mutation_p.G818R|ZNF438_ENST00000452305.1_Missense_Mutation_p.G808R|ZNF438_ENST00000331737.6_Missense_Mutation_p.G808R	p.G769R	NM_001143769.1	NP_001137241.1	Q7Z4V0	ZN438_HUMAN			8	3059	-		Prostate(175;0.0587)	818					A2A3J4|A8K9L5|Q5T426|Q658Q4|Q6ZN65	Missense_Mutation	SNP	ENST00000361310.3	37	c.2305G>C	CCDS7168.1	.	.	.	.	.	.	.	.	.	.	C	31	5.092996	0.94149	.	.	ENSG00000183621	ENST00000331737;ENST00000361310;ENST00000436087;ENST00000442986;ENST00000413025;ENST00000452305;ENST00000444692;ENST00000538351;ENST00000430896;ENST00000375311	T;T;T;T;T;T;T;T;T	0.16324	2.35;2.35;2.35;2.35;2.35;2.35;2.35;2.35;2.43	5.5	5.5	0.81552	.	0.275531	0.42294	D	0.000725	T	0.42404	0.1201	M	0.65498	2.005	0.51233	D	0.999914	D;D	0.89917	1.0;1.0	D;D	0.71870	0.945;0.975	T	0.20174	-1.0283	10	0.87932	D	0	-21.3209	18.7617	0.91855	0.0:1.0:0.0:0.0	.	818;808	Q7Z4V0;Q7Z4V0-2	ZN438_HUMAN;.	R	808;818;818;818;818;808;808;769;537;382	ENSP00000333571:G808R;ENSP00000354663:G818R;ENSP00000406934:G818R;ENSP00000412363:G818R;ENSP00000387546:G818R;ENSP00000413060:G808R;ENSP00000410898:G808R;ENSP00000445461:G769R;ENSP00000364460:G382R	ENSP00000333571:G808R	G	-	1	0	ZNF438	31173931	0.985000	0.35326	0.507000	0.27676	0.387000	0.30353	2.863000	0.48396	2.744000	0.94065	0.655000	0.94253	GGA		0.542	ZNF438-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000277006.1	NM_182755		80	364	0	0	0	1	0	80	364					G	31133925	C	G	31133925	3	3	61	1	0	0	0	0	1	0	0	0	17907	632	22	5	38	5	ZNF438	10	31133925	Missense_Mutation	SNP	C	TCGA-EJ-5512-01A-01D-1576-08		31133925	104400822	17	3129											
CDH23	64072	broad.mit.edu	37	chr10	73270958	73270958	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acaatcagccctacagcgtcCgcatccctgaggtaggagcc	10	6	10	15	2	1	1	1	1	0	0	3	2	3	2	4	2	4	2	4	2	3	2			TCGA-EJ-5512-01A-01D-1576-08	TCGA-EJ-5512-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49224380-bffd-4048-93a7-fb4b19285c35	05c383c1-ef34-477c-b518-2b48a62f2443	g.chr10:73270958C>A	ENST00000224721.6	+	5	423	c.418C>A	c.(418-420)Cgc>Agc	p.R140S	CDH23_ENST00000461841.3_Missense_Mutation_p.R185S|CDH23_ENST00000299366.7_Missense_Mutation_p.R185S|CDH23_ENST00000398842.3_Missense_Mutation_p.R140S|CDH23-AS1_ENST00000428918.1_RNA|CDH23_ENST00000398809.4_Missense_Mutation_p.R140S	NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	140	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium ion transport (GO:0006816)|calcium-dependent cell-cell adhesion (GO:0016339)|cytosolic calcium ion homeostasis (GO:0051480)|equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)	calcium ion binding (GO:0005509)	p.R140S(2)		NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						CTACAGCGTCCGCATCCCTGA	0.572																																						ENST00000224721.6																			2	Substitution - Missense(2)	p.R140S(2)	prostate(2)	NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						c.(418-420)Cgc>Agc		cadherin-related 23							82	90	88					10																	73270958		1989	4166	6155	SO:0001583	missense	64072				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding	g.chr10:73270958C>A	AY010111	CCDS53540.1, CCDS73146.1	10q22.1	2014-08-08	2010-01-25		ENSG00000107736	ENSG00000107736		"Cadherins / Cadherin-related"	13733	protein-coding gene	gene with protein product	"cadherin-related family member 23"	605516	"cadherin related 23", "cadherin-like 23"	DFNB12, USH1D		11090341	Standard	NM_022124		Approved	CDHR23	uc001jrx.4	Q9H251	OTTHUMG00000019347	ENST00000224721.6:c.418C>A	10.37:g.73270958C>A	ENSP00000224721:p.Arg140Ser					CDH23_ENST00000398809.4_Missense_Mutation_p.R140S|CDH23_ENST00000299366.7_Missense_Mutation_p.R185S|CDH23_ENST00000398842.3_Missense_Mutation_p.R140S|CDH23-AS1_ENST00000428918.1_RNA|CDH23_ENST00000461841.3_Missense_Mutation_p.R185S	p.R140S	NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN			5	423	+			140			Cadherin 2.		C4IXS9|F6U049|Q5QGS1|Q5QGS2|Q5QGS5|Q5QGS6|Q5XKN2|Q6UWW1|Q96JL3|Q9H4K9	Missense_Mutation	SNP	ENST00000224721.6	37	c.418C>A		.	.	.	.	.	.	.	.	.	.	C	15.43	2.832048	0.50845	.	.	ENSG00000107736	ENST00000398860;ENST00000398855;ENST00000398828;ENST00000398809;ENST00000398842;ENST00000299366;ENST00000224721;ENST00000416060	T;T	0.01584	4.75;4.75	5.58	5.58	0.84498	Cadherin (4);Cadherin-like (1);	0.000000	0.64402	D	0.000002	T	0.03651	0.0104	N	0.12611	0.24	0.80722	D	1	D;B;D;D	0.76494	0.993;0.413;0.983;0.999	P;B;P;D	0.81914	0.884;0.264;0.633;0.995	T	0.66803	-0.5831	10	0.08179	T	0.78	.	17.7491	0.88429	0.0:1.0:0.0:0.0	.	140;140;140;140	A5D6V9;Q9H251;Q9H251-5;E7ESV7	.;CAD23_HUMAN;.;.	S	140;140;140;140;140;140;140;81	ENSP00000381789:R140S;ENSP00000381822:R140S	ENSP00000224721:R140S	R	+	1	0	CDH23	72940964	1.000000	0.71417	1.000000	0.80357	0.779000	0.44077	2.759000	0.47573	2.620000	0.88729	0.462000	0.41574	CGC		0.572	CDH23-001	PUTATIVE	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000051227.4	NM_052836		3	57	1	0	0.115264	1	0.120275	3	57					A	73270958	C	A	73270958	3	1	61	1	0	0	0	0	1	0	0	0	3108	652	23	5	436	5	CDH23	10	73270958	Missense_Mutation	SNP	C	TCGA-EJ-5512-01A-01D-1576-08	42137033	73270958	62263789	18	3130											
TNKS2	80351	broad.mit.edu	37	chr10	93600428	93600428	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tccgtggtggaatatctgctAcagcatggagctgatgtgca	9	11	13	8	1	1	1	0	1	1	0	2	3	2	3	1	3	5	4	1	3	3	2			TCGA-EJ-5512-01A-01D-1576-08	TCGA-EJ-5512-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49224380-bffd-4048-93a7-fb4b19285c35	05c383c1-ef34-477c-b518-2b48a62f2443	g.chr10:93600428A>G	ENST00000371627.4	+	14	2017	c.1638A>G	c.(1636-1638)ctA>ctG	p.L546L		NM_025235.3	NP_079511.1	Q9H2K2	TNKS2_HUMAN	tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase 2	546	HIF1AN-binding.				multicellular organism growth (GO:0035264)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of telomere maintenance via telomerase (GO:0032212)|protein ADP-ribosylation (GO:0006471)|protein auto-ADP-ribosylation (GO:0070213)|protein localization to chromosome, telomeric region (GO:0070198)|protein polyubiquitination (GO:0000209)|regulation of multicellular organism growth (GO:0040014)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nuclear chromosome, telomeric region (GO:0000784)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)|pericentriolar material (GO:0000242)|perinuclear region of cytoplasm (GO:0048471)	enzyme binding (GO:0019899)|metal ion binding (GO:0046872)|NAD+ ADP-ribosyltransferase activity (GO:0003950)	p.L546L(2)		biliary_tract(1)|breast(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	48		Colorectal(252;0.162)				AATATCTGCTACAGCATGGAG	0.433																																						ENST00000371627.4																			2	Substitution - coding silent(2)	p.L546L(2)	prostate(2)	biliary_tract(1)|breast(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	48						c.(1636-1638)ctA>ctG		tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase 2							215	183	194					10																	93600428		2203	4300	6503	SO:0001819	synonymous_variant	80351				positive regulation of canonical Wnt receptor signaling pathway|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein polyubiquitination|Wnt receptor signaling pathway	Golgi membrane|microsome|nuclear envelope|pericentriolar material|perinuclear region of cytoplasm	NAD+ ADP-ribosyltransferase activity|protein binding	g.chr10:93600428A>G	AF342982	CCDS7417.1	10q23.3	2013-01-10			ENSG00000107854	ENSG00000107854		"Poly (ADP-ribose) polymerases", "Sterile alpha motif (SAM) domain containing", "Ankyrin repeat domain containing"	15677	protein-coding gene	gene with protein product		607128					Standard	NM_025235		Approved	TNKL, TANK2, PARP-5b, PARP-5c, PARP5B, PARP5C, pART6	uc001khp.3	Q9H2K2	OTTHUMG00000018747	ENST00000371627.4:c.1638A>G	10.37:g.93600428A>G							p.L546L	NM_025235.3	NP_079511.1	Q9H2K2	TNKS2_HUMAN			14	2017	+		Colorectal(252;0.162)	546					B2RBD3|Q9H8F2|Q9HAS4	Silent	SNP	ENST00000371627.4	37	c.1638A>G	CCDS7417.1																																																																																				0.433	TNKS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049374.1	NM_025235		7	330	0	0	0	1	0	7	330					G	93600428	A	G	93600428	2	3	61	1	0	0	0	0	0	0	0	1	16318	378	14	4		4	TNKS2	10	93600428	Silent	SNP	A	TCGA-EJ-5512-01A-01D-1576-08	20329470	93600428	41934319	19	3131											
PKD2L1	9033	broad.mit.edu	37	chr10	102051147	102051147	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gtcaaacttggtgaaggtggCcgtgagctcagtgatttcat	9	12	13	7	1	3	3	3	3	0	0	3	3	3	3	1	3	2	1	1	3	2	2			TCGA-EJ-5512-01A-01D-1576-08	TCGA-EJ-5512-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49224380-bffd-4048-93a7-fb4b19285c35	05c383c1-ef34-477c-b518-2b48a62f2443	g.chr10:102051147C>T	ENST00000318222.3	-	12	2300	c.1918G>A	c.(1918-1920)Gcc>Acc	p.A640T	PKD2L1_ENST00000338519.3_Missense_Mutation_p.A565T|PKD2L1_ENST00000353274.3_Missense_Mutation_p.A640T	NM_001253837.1|NM_016112.2	NP_001240766.1|NP_057196.2	Q9P0L9	PK2L1_HUMAN	polycystic kidney disease 2-like 1	640	EF-hand.				cation transport (GO:0006812)|cellular response to acidic pH (GO:0071468)|detection of chemical stimulus involved in sensory perception of sour taste (GO:0001581)|detection of mechanical stimulus (GO:0050982)|potassium ion transmembrane transport (GO:0071805)|protein homotrimerization (GO:0070207)|sensory perception of sour taste (GO:0050915)|smoothened signaling pathway (GO:0007224)|sodium ion transmembrane transport (GO:0035725)	calcium channel complex (GO:0034704)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nonmotile primary cilium (GO:0031513)|plasma membrane (GO:0005886)	alpha-actinin binding (GO:0051393)|calcium activated cation channel activity (GO:0005227)|calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-activated potassium channel activity (GO:0015269)|cation channel activity (GO:0005261)|cytoskeletal protein binding (GO:0008092)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|sodium channel activity (GO:0005272)|sour taste receptor activity (GO:0033040)	p.A640T(1)		NS(2)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	43		Colorectal(252;0.117)		Epithelial(162;6.15e-10)|all cancers(201;5.14e-08)		GTGAAGGTGGCCGTGAGCTCA	0.507																																						ENST00000318222.3																			1	Substitution - Missense(1)	p.A640T(1)	prostate(1)	NS(2)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	43						c.(1918-1920)Gcc>Acc		polycystic kidney disease 2-like 1							183	148	160					10																	102051147		2203	4300	6503	SO:0001583	missense	9033				signal transduction	integral to membrane	calcium activated cation channel activity|calcium ion binding|cytoskeletal protein binding	g.chr10:102051147C>T	AF094827	CCDS7492.1	10q24.31	2011-12-16			ENSG00000107593	ENSG00000107593		"Voltage-gated ion channels / Transient receptor potential cation channels"	9011	protein-coding gene	gene with protein product	"transient receptor potential cation channel, subfamily P, member 3"	604532		PKD2L, PKDL		9878261, 9748274	Standard	NM_016112		Approved	PCL, TRPP3	uc001kqx.1	Q9P0L9	OTTHUMG00000018910	ENST00000318222.3:c.1918G>A	10.37:g.102051147C>T	ENSP00000325296:p.Ala640Thr					PKD2L1_ENST00000338519.3_Missense_Mutation_p.A565T|PKD2L1_ENST00000353274.3_Missense_Mutation_p.A640T	p.A640T	NM_001253837.1|NM_016112.2	NP_001240766.1|NP_057196.2	Q9P0L9	PK2L1_HUMAN		Epithelial(162;6.15e-10)|all cancers(201;5.14e-08)	12	2300	-		Colorectal(252;0.117)	640					O75972|Q5W039|Q9UP35|Q9UPA2	Missense_Mutation	SNP	ENST00000318222.3	37	c.1918G>A	CCDS7492.1	.	.	.	.	.	.	.	.	.	.	C	18.15	3.560702	0.65538	.	.	ENSG00000107593	ENST00000338519;ENST00000353274;ENST00000318222;ENST00000339977	T;T;T	0.65364	0.02;-0.15;-0.13	5.55	4.65	0.58169	EF-hand-like domain (1);	0.155820	0.56097	N	0.000025	T	0.63307	0.2500	M	0.76838	2.35	0.47659	D	0.999489	B;B	0.23735	0.09;0.014	B;B	0.25405	0.06;0.027	T	0.63928	-0.6526	10	0.56958	D	0.05	-4.8476	11.5995	0.50995	0.0:0.918:0.0:0.082	.	593;640	Q1L4F0;Q9P0L9	.;PK2L1_HUMAN	T	565;640;640;638	ENSP00000345068:A565T;ENSP00000266049:A640T;ENSP00000325296:A640T	ENSP00000325296:A640T	A	-	1	0	PKD2L1	102041137	1.000000	0.71417	0.983000	0.44433	0.914000	0.54420	4.762000	0.62250	1.347000	0.45714	0.655000	0.94253	GCC		0.507	PKD2L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049863.2	NM_016112		4	168	0	0	0	1	0	4	168					T	102051147	C	T	102051147	3	4	61	1	0	0	0	0	1	0	0	0	11967	739	26	3	519	3	PKD2L1	10	102051147	Missense_Mutation	SNP	C	TCGA-EJ-5512-01A-01D-1576-08	8450719	102051147	33483600	20	3132											
MUC6	4588	broad.mit.edu	37	chr11	1019457	1019457	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtgggaggcagccctgatGtggcttgtggggtgacggcc	4	9	19	9	1	0	2	0	2	0	0	0	3	0	3	2	6	1	2	2	6	0	1			TCGA-EJ-5512-01A-01D-1576-08	TCGA-EJ-5512-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49224380-bffd-4048-93a7-fb4b19285c35	05c383c1-ef34-477c-b518-2b48a62f2443	g.chr11:1019457G>A	ENST00000421673.2	-	30	3898	c.3848C>T	c.(3847-3849)aCa>aTa	p.T1283I		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	1283	Pro-rich.|Thr-rich.				cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)	extracellular matrix structural constituent (GO:0005201)	p.T1283I(2)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CAGCCCTGATGTGGCTTGTGG	0.642																																						ENST00000421673.2																			2	Substitution - Missense(2)	p.T1283I(2)	prostate(2)	breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						c.(3847-3849)aCa>aTa		mucin 6, oligomeric mucus/gel-forming							145	172	163					11																	1019457		2143	4237	6380	SO:0001583	missense	4588				maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent	g.chr11:1019457G>A	U97698, AY312160	CCDS44513.1	11p15.5	2008-02-05	2006-03-14		ENSG00000184956	ENSG00000184956		"Mucins"	7517	protein-coding gene	gene with protein product		158374	"mucin 6, gastric"			7680650	Standard	NM_005961		Approved		uc001lsw.2	Q6W4X9	OTTHUMG00000165140	ENST00000421673.2:c.3848C>T	11.37:g.1019457G>A	ENSP00000406861:p.Thr1283Ile						p.T1283I	NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	30	3898	-		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	1283			Pro-rich.|Thr-rich.		O15329|Q14394|Q2TUQ5|Q4L207|Q8N8I1|Q8NAK1	Missense_Mutation	SNP	ENST00000421673.2	37	c.3848C>T	CCDS44513.1	.	.	.	.	.	.	.	.	.	.	G	13.80	2.345561	0.41498	.	.	ENSG00000184956	ENST00000421673	T	0.20200	2.09	2.77	2.77	0.32553	.	.	.	.	.	T	0.31888	0.0811	L	0.34521	1.04	0.09310	N	1	D	0.76494	0.999	D	0.66084	0.941	T	0.08371	-1.0725	9	0.56958	D	0.05	.	11.7009	0.51571	0.0:0.0:1.0:0.0	.	1283	Q6W4X9	MUC6_HUMAN	I	1283	ENSP00000406861:T1283I	ENSP00000406861:T1283I	T	-	2	0	MUC6	1009457	0.997000	0.39634	0.008000	0.14137	0.202000	0.24057	4.538000	0.60650	1.491000	0.48482	0.305000	0.20034	ACA		0.642	MUC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382120.2	XM_290540		5	188	0	0	0	1	0	5	188					A	1019457	G	A	1019457	3	1	61	1	0	0	0	0	1	0	0	0	9980	1377	48	3	3487	3	MUC6	11	1019457	Missense_Mutation	SNP	G	TCGA-EJ-5512-01A-01D-1576-08		1019457	133987059	21	3133											
RPS6KB2	6199	broad.mit.edu	37	chr11	67196653	67196653	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgtgaacgttggcccagagcGcatcgggccccactgctttg	6	8	13	14	4	0	2	0	1	0	1	1	2	0	2	3	2	3	3	3	2	1	2			TCGA-EJ-5512-01A-01D-1576-08	TCGA-EJ-5512-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49224380-bffd-4048-93a7-fb4b19285c35	05c383c1-ef34-477c-b518-2b48a62f2443	g.chr11:67196653G>A	ENST00000312629.5	+	3	227	c.182G>A	c.(181-183)cGc>cAc	p.R61H	AP003419.16_ENST00000535922.1_RNA|RPS6KB2_ENST00000524814.1_3'UTR|RPS6KB2_ENST00000539188.1_Missense_Mutation_p.R61H	NM_003952.2	NP_003943.2	Q9UBS0	KS6B2_HUMAN	ribosomal protein S6 kinase, 70kDa, polypeptide 2	61					epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of translational initiation (GO:0045948)|protein kinase B signaling (GO:0043491)|signal transduction (GO:0007165)|translation (GO:0006412)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|peptide binding (GO:0042277)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|ribosomal protein S6 kinase activity (GO:0004711)	p.R61H(3)		breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|prostate(3)|salivary_gland(1)|stomach(2)	25			BRCA - Breast invasive adenocarcinoma(15;3.26e-06)			GGCCCAGAGCGCATCGGGCCC	0.622																																						ENST00000312629.5																			3	Substitution - Missense(3)	p.R61H(3)	prostate(3)	breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|prostate(3)|salivary_gland(1)|stomach(2)	25						c.(181-183)cGc>cAc		ribosomal protein S6 kinase, 70kDa, polypeptide 2							83	92	89					11																	67196653		2142	4222	6364	SO:0001583	missense	6199				nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of translational initiation|translation	nucleoplasm	ATP binding|protein serine/threonine kinase activity	g.chr11:67196653G>A	AB019245	CCDS41677.1	11q13.1	2011-04-05	2002-08-29		ENSG00000175634	ENSG00000175634			10437	protein-coding gene	gene with protein product		608939	"ribosomal protein S6 kinase, 70kD, polypeptide 2"			9878560, 9804755	Standard	XM_005274164		Approved	p70S6Kb, P70-BETA, STK14B, KLS	uc001old.3	Q9UBS0	OTTHUMG00000167673	ENST00000312629.5:c.182G>A	11.37:g.67196653G>A	ENSP00000308413:p.Arg61His					RPS6KB2_ENST00000524814.1_3'UTR|RPS6KB2_ENST00000539188.1_Missense_Mutation_p.R61H	p.R61H	NM_003952.2	NP_003943.2	Q9UBS0	KS6B2_HUMAN	BRCA - Breast invasive adenocarcinoma(15;3.26e-06)		3	227	+			61					B2RMZ9|B4DML8|O94809|Q9UEC1	Missense_Mutation	SNP	ENST00000312629.5	37	c.182G>A	CCDS41677.1	.	.	.	.	.	.	.	.	.	.	G	16.05	3.011518	0.54468	.	.	ENSG00000175634	ENST00000524934;ENST00000524814;ENST00000539188;ENST00000312629	T;T;T	0.75477	-0.94;0.7;-0.42	4.55	1.59	0.23543	Protein kinase-like domain (1);	0.070349	0.53938	N	0.000052	T	0.58004	0.2092	L	0.40543	1.245	0.35016	D	0.757408	B;B	0.34349	0.45;0.051	B;B	0.22880	0.042;0.008	T	0.63844	-0.6545	10	0.66056	D	0.02	.	8.0448	0.30542	0.3434:0.0:0.6566:0.0	.	61;61	Q9BRS0;Q9UBS0	.;KS6B2_HUMAN	H	84;61;61;61	ENSP00000436811:R84H;ENSP00000442949:R61H;ENSP00000308413:R61H	ENSP00000308413:R61H	R	+	2	0	RPS6KB2	66953229	0.624000	0.27102	0.993000	0.49108	0.855000	0.48748	0.708000	0.25719	0.543000	0.28864	0.655000	0.94253	CGC		0.622	RPS6KB2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395508.1	NM_003952		4	192	0	0	0	1	0	4	192					A	67196653	G	A	67196653	3	1	61	1	0	0	0	0	1	0	0	0	13657	1087	38	1	192	1	RPS6KB2	11	67196653	Missense_Mutation	SNP	G	TCGA-EJ-5512-01A-01D-1576-08	66177196	67196653	67809863	22	3134											
CEP164	22897	broad.mit.edu	37	chr11	117282579	117282579	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gggcagcaccacctttcaggGcataattgaggccaaccgga	11	6	12	12	1	1	1	1	1	0	0	1	2	1	2	4	4	2	3	4	4	2	3			TCGA-EJ-5512-01A-01D-1576-08	TCGA-EJ-5512-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49224380-bffd-4048-93a7-fb4b19285c35	05c383c1-ef34-477c-b518-2b48a62f2443	g.chr11:117282579G>A	ENST00000278935.3	+	32	4379	c.4232G>A	c.(4231-4233)gGc>gAc	p.G1411D	CEP164_ENST00000533706.1_3'UTR	NM_001271933.1|NM_014956.4	NP_001258862.1|NP_055771.4	Q9UPV0	CE164_HUMAN	centrosomal protein 164kDa	1411					cilium assembly (GO:0042384)|DNA repair (GO:0006281)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary transition fiber (GO:0097539)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|nucleus (GO:0005634)				breast(3)|central_nervous_system(1)|kidney(7)|large_intestine(12)|lung(18)|ovary(3)|prostate(3)	47	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;4e-05)|Epithelial(105;0.0008)		ACCTTTCAGGGCATAATTGAG	0.592																																						ENST00000278935.3																			0				breast(3)|central_nervous_system(1)|kidney(7)|large_intestine(12)|lung(18)|ovary(3)|prostate(3)	47						c.(4231-4233)gGc>gAc		centrosomal protein 164kDa							67	66	66					11																	117282579		2201	4296	6497	SO:0001583	missense	22897				cell division|DNA repair|G2/M transition of mitotic cell cycle|mitosis	centriole|cytosol|nucleus		g.chr11:117282579G>A	AB028975	CCDS31683.1	11q23.3	2014-02-20			ENSG00000110274	ENSG00000110274			29182	protein-coding gene	gene with protein product		614848				10470851, 14654843	Standard	NM_014956		Approved	KIAA1052, NPHP15	uc001prc.3	Q9UPV0	OTTHUMG00000167070	ENST00000278935.3:c.4232G>A	11.37:g.117282579G>A	ENSP00000278935:p.Gly1411Asp					CEP164_ENST00000533706.1_3'UTR	p.G1411D	NM_014956.4	NP_055771.4	Q9UPV0	CE164_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4e-05)|Epithelial(105;0.0008)	32	4379	+	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)	1411					Q6PKH9|Q7Z2X9|Q9NVS0|Q9UFJ6	Missense_Mutation	SNP	ENST00000278935.3	37	c.4232G>A	CCDS31683.1	.	.	.	.	.	.	.	.	.	.	G	15.50	2.851115	0.51270	.	.	ENSG00000110274	ENST00000278935	T	0.22336	1.96	5.27	2.34	0.29019	.	0.355664	0.24262	N	0.040061	T	0.12603	0.0306	N	0.21448	0.665	0.27582	N	0.949558	B;B	0.16802	0.019;0.019	B;B	0.18561	0.022;0.022	T	0.17623	-1.0363	10	0.34782	T	0.22	-0.0594	7.8702	0.29561	0.2659:0.0:0.734:0.0	.	1411;1406	Q9UPV0;Q9UPV0-2	CE164_HUMAN;.	D	1411	ENSP00000278935:G1411D	ENSP00000278935:G1411D	G	+	2	0	CEP164	116787789	1.000000	0.71417	0.328000	0.25416	0.388000	0.30384	3.150000	0.50662	0.588000	0.29660	0.655000	0.94253	GGC		0.592	CEP164-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392893.1	NM_014956		4	128	0	0	0	1	0	4	128					A	117282579	G	A	117282579	3	1	61	1	0	0	0	0	1	0	0	0	3249	1203	42	3	4350	3	CEP164	11	117282579	Missense_Mutation	SNP	G	TCGA-EJ-5512-01A-01D-1576-08	50085926	117282579	17723937	23	3135											
ATF7IP	55729	broad.mit.edu	37	chr12	14628823	14628823	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtagaagttttgtttttcaGtgtggaaaagccactggcag	10	14	12	5	0	1	1	1	0	0	1	1	2	1	2	1	2	1	4	1	2	4	5			TCGA-EJ-5512-01A-01D-1576-08	TCGA-EJ-5512-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49224380-bffd-4048-93a7-fb4b19285c35	05c383c1-ef34-477c-b518-2b48a62f2443	g.chr12:14628823G>T	ENST00000540793.1	+	10	3017		c.e10-1		ATF7IP_ENST00000536444.1_Splice_Site|ATF7IP_ENST00000544627.1_Splice_Site|ATF7IP_ENST00000261168.4_Splice_Site|ATF7IP_ENST00000543189.1_Splice_Site			Q6VMQ6	MCAF1_HUMAN	activating transcription factor 7 interacting protein						DNA methylation (GO:0006306)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of RNA polymerase II transcriptional preinitiation complex assembly (GO:0045898)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	nucleus (GO:0005634)		p.?(1)		cervix(1)|endometrium(7)|kidney(5)|large_intestine(10)|liver(2)|lung(22)|ovary(1)|prostate(4)|skin(1)|urinary_tract(1)	54						TTGTTTTTCAGTGTGGAAAAG	0.363																																						ENST00000544627.1																			1	Unknown(1)	p.?(1)	prostate(1)	cervix(1)|endometrium(7)|kidney(5)|large_intestine(10)|liver(2)|lung(22)|ovary(1)|prostate(4)|skin(1)|urinary_tract(1)	54						c.e11-1		activating transcription factor 7 interacting protein							124	118	120					12																	14628823		2203	4300	6503	SO:0001630	splice_region_variant	55729				DNA methylation|interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|regulation of RNA polymerase II transcriptional preinitiation complex assembly|transcription, DNA-dependent		protein binding	g.chr12:14628823G>T	AJ242978	CCDS8663.1, CCDS66326.1, CCDS66327.1, CCDS73449.1	12p13.1	2005-11-18				ENSG00000171681			20092	protein-coding gene	gene with protein product		613644				10976766, 10777215	Standard	XM_005253424		Approved	FLJ10688, p621	uc001rbw.3	Q6VMQ6		ENST00000540793.1:c.2863-1G>T	12.37:g.14628823G>T						ATF7IP_ENST00000536444.1_Splice_Site|ATF7IP_ENST00000540793.1_Splice_Site|ATF7IP_ENST00000261168.4_Splice_Site|ATF7IP_ENST00000543189.1_Splice_Site				Q6VMQ6	MCAF1_HUMAN			11	3206	+								F5GX74|G3V1U0|Q4G0T9|Q6P3T3|Q86XW5|Q9NVJ9|Q9NWC2|Q9Y4X8	Splice_Site	SNP	ENST00000540793.1	37		CCDS8663.1	.	.	.	.	.	.	.	.	.	.	G	13.41	2.227896	0.39399	.	.	ENSG00000171681	ENST00000261168;ENST00000543189;ENST00000536444;ENST00000544627;ENST00000540793	.	.	.	5.79	5.79	0.91817	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.2113	0.89871	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ATF7IP	14520090	1.000000	0.71417	1.000000	0.80357	0.261000	0.26267	6.327000	0.72910	2.732000	0.93576	0.585000	0.79938	.		0.363	ATF7IP-024	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000401400.1	NM_018179	Intron	18	101	1	0	2.94398e-08	1	3.53278e-08	18	101					T	14628823	G	T	14628823	5	4	61	1	0	0	0	0	0	0	1	0	1087	1043	36	5	2900	5	ATF7IP	12	14628823	Splice_Site	SNP	G	TCGA-EJ-5512-01A-01D-1576-08		14628823	119223072	24	3136											
MYH7	4625	broad.mit.edu	37	chr14	23901077	23901077	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cttccctgctccggattctcCgctgtgaagacaggggctta	6	11	11	13	2	1	2	0	1	1	1	4	3	3	3	3	3	1	3	3	3	2	3	rs397516242		TCGA-EJ-5512-01A-01D-1576-08	TCGA-EJ-5512-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49224380-bffd-4048-93a7-fb4b19285c35	05c383c1-ef34-477c-b518-2b48a62f2443	g.chr14:23901077C>T	ENST00000355349.3	-	7	694	c.532G>A	c.(532-534)Gga>Aga	p.G178R		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	178	Myosin motor.				adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|myosin complex (GO:0016459)|myosin filament (GO:0032982)|nucleus (GO:0005634)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)	p.G178R(1)		NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		CCGGATTCTCCGCTGTGAAGA	0.547																																						ENST00000355349.3																			1	Substitution - Missense(1)	p.G178R(1)	prostate(1)	NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137						c.e7-1		myosin, heavy chain 7, cardiac muscle, beta							82	77	79					14																	23901077		2203	4300	6503	SO:0001630	splice_region_variant	4625				adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr14:23901077C>T	M58018	CCDS9601.1	14q11.2-q13	2014-09-17	2006-09-29		ENSG00000092054	ENSG00000092054		"Myosins / Myosin superfamily : Class II"	7577	protein-coding gene	gene with protein product		160760	"myopathy, distal 1", "myosin, heavy polypeptide 7, cardiac muscle, beta"	CMH1, MPD1		2494889, 8483915, 15322983	Standard	XM_005267696		Approved	CMD1S	uc001wjx.3	P12883	OTTHUMG00000028755	ENST00000355349.3:c.531-1G>A	14.37:g.23901077C>T							p.G178_splice	NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN		GBM - Glioblastoma multiforme(265;0.00725)	7	694	-	all_cancers(95;2.54e-05)		178			Myosin head-like.		A2TDB6|B6D424|Q14836|Q14837|Q14904|Q16579|Q2M1Y6|Q92679|Q9H1D5|Q9UDA2|Q9UMM8	Splice_Site	SNP	ENST00000355349.3	37	c.530_splice	CCDS9601.1	.	.	.	.	.	.	.	.	.	.	C	16.50	3.141694	0.57044	.	.	ENSG00000092054	ENST00000355349;ENST00000544444	D	0.99878	-7.43	3.12	3.12	0.35913	Myosin head, motor domain (3);	.	.	.	.	D	0.99900	0.9952	H	0.99225	4.475	0.80722	D	1	P	0.36438	0.553	P	0.46389	0.515	D	0.95223	0.8335	9	0.87932	D	0	.	14.7178	0.69284	0.0:1.0:0.0:0.0	.	178	P12883	MYH7_HUMAN	R	178	ENSP00000347507:G178R	ENSP00000347507:G178R	G	-	1	0	MYH7	22970917	1.000000	0.71417	0.992000	0.48379	0.427000	0.31564	7.405000	0.80007	1.754000	0.51921	0.305000	0.20034	GGA		0.547	MYH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071798.3	NM_000257	Missense_Mutation	22	92	0	0	0	1	0	22	92					T	23901077	C	T	23901077	5	4	61	1	0	0	0	0	0	0	1	0	10039	666	23	2	5411	2	MYH7	14	23901077	Splice_Site	SNP	C	TCGA-EJ-5512-01A-01D-1576-08		23901077	83448463	25	3137											
PLA2G4E	123745	broad.mit.edu	37	chr15	42302442	42302442	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttctgtaatgcacttggcgcGcatgatttgatggaccctgt	7	14	11	9	2	1	2	0	2	1	0	1	3	1	3	1	2	1	3	1	2	1	4	rs374803299		TCGA-EJ-5512-01A-01D-1576-08	TCGA-EJ-5512-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49224380-bffd-4048-93a7-fb4b19285c35	05c383c1-ef34-477c-b518-2b48a62f2443	g.chr15:42302442G>A	ENST00000413860.2	-	1	3	c.4C>T	c.(4-6)Cgc>Tgc	p.R2C	PLA2G4E_ENST00000399518.3_Intron|CTD-2382E5.2_ENST00000552704.1_RNA			Q3MJ16	PA24E_HUMAN	phospholipase A2, group IVE	0					glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid catabolic process (GO:0009395)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|lysosome (GO:0005764)|membrane (GO:0016020)	metal ion binding (GO:0046872)|phospholipase A2 activity (GO:0004623)			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|stomach(1)	16		all_cancers(109;8.09e-13)|all_epithelial(112;2.03e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.0273)		OV - Ovarian serous cystadenocarcinoma(18;7.61e-18)|GBM - Glioblastoma multiforme(94;3.07e-06)		CACTTGGCGCGCATGATTTGA	0.507													G|||	1	0.000199681	8e-04	0	5008	,	,		16520	0		0	False		,,,				2504	0					ENST00000413860.2																			0				NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|stomach(1)	16						c.(4-6)Cgc>Tgc		phospholipase A2, group IVE		G		1,3763		0,1,1881	78	85	83			-3.4	0	15	dbSNP_134	83	0,8210		0,0,4105	no	intron	PLA2G4E	NM_001206670.1		0,1,5986	AA,AG,GG		0.0,0.0266,0.0084			42302442	1,11973	1882	4105	5987	SO:0001583	missense	123745				phospholipid catabolic process	cytosol|lysosomal membrane	metal ion binding|phospholipase A2 activity	g.chr15:42302442G>A		CCDS55962.1	15q15.1	2008-09-19			ENSG00000188089	ENSG00000188089	3.1.1.4		24791	protein-coding gene	gene with protein product						15866882	Standard	NM_001206670		Approved	FLJ45651	uc021sjp.1	Q3MJ16	OTTHUMG00000130371	ENST00000413860.2:c.4C>T	15.37:g.42302442G>A	ENSP00000413897:p.Arg2Cys					PLA2G4E_ENST00000399518.3_Intron	p.R2C			Q3MJ16	PA24E_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;7.61e-18)|GBM - Glioblastoma multiforme(94;3.07e-06)	1	3	-		all_cancers(109;8.09e-13)|all_epithelial(112;2.03e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.0273)	0					Q6ZSC0	Missense_Mutation	SNP	ENST00000413860.2	37	c.4C>T		.	.	.	.	.	.	.	.	.	.	G	4.868	0.161324	0.09287	2.66E-4	0.0	ENSG00000188089	ENST00000413860	T	0.01629	4.72	1.8	-3.36	0.04913	.	.	.	.	.	T	0.01320	0.0043	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.49011	-0.8983	8	0.87932	D	0	.	0.2388	0.00190	0.3047:0.2046:0.2837:0.2071	.	2	C9JK77	.	C	2	ENSP00000413897:R2C	ENSP00000413897:R2C	R	-	1	0	PLA2G4E	40089734	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.542000	0.02196	-0.987000	0.03494	-1.614000	0.00798	CGC		0.507	PLA2G4E-201	KNOWN	basic	protein_coding	protein_coding		NM_198442		4	192	0	0	0	1	0	4	192					A	42302442	G	A	42302442	3	1	61	1	0	0	0	0	1	0	0	0	12005	1087	38	1	2591	1	PLA2G4E	15	42302442	Missense_Mutation	SNP	G	TCGA-EJ-5512-01A-01D-1576-08		42302442	60228950	26	3138											
SQRDL	58472	broad.mit.edu	37	chr15	45965849	45965849	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctcatcccaaaatagggtcGaattattcagttaagactgt	13	12	8	8	1	2	1	2	0	0	1	4	2	3	1	1	1	0	2	1	1	6	4			TCGA-EJ-5512-01A-01D-1576-08	TCGA-EJ-5512-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49224380-bffd-4048-93a7-fb4b19285c35	05c383c1-ef34-477c-b518-2b48a62f2443	g.chr15:45965849G>T	ENST00000260324.7	+	5	890	c.504G>T	c.(502-504)tcG>tcT	p.S168S	RP11-96O20.4_ENST00000564080.1_Silent_p.S168S|SQRDL_ENST00000568606.1_Silent_p.S168S	NM_021199.3	NP_067022.1	Q9Y6N5	SQRD_HUMAN	sulfide quinone reductase-like (yeast)	168					cellular nitrogen compound metabolic process (GO:0034641)|small molecule metabolic process (GO:0044281)|sulfide oxidation, using sulfide:quinone oxidoreductase (GO:0070221)|sulfur amino acid catabolic process (GO:0000098)|sulfur amino acid metabolic process (GO:0000096)	mitochondrial inner membrane (GO:0005743)	sulfide:quinone oxidoreductase activity (GO:0070224)	p.S168S(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)	11		Lung NSC(122;0.000117)|all_lung(180;0.000737)|Melanoma(134;0.0417)		all cancers(107;5.89e-18)|GBM - Glioblastoma multiforme(94;1.21e-06)|COAD - Colon adenocarcinoma(120;0.17)|Colorectal(133;0.188)		AAATAGGGTCGAATTATTCAG	0.398																																						ENST00000260324.7																			1	Substitution - coding silent(1)	p.S168S(1)	prostate(1)	central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)	11						c.(502-504)tcG>tcT		sulfide quinone reductase-like (yeast)							144	148	146					15																	45965849		2198	4297	6495	SO:0001819	synonymous_variant	58472						oxidoreductase activity	g.chr15:45965849G>T	AF042284	CCDS10127.1	15q21.1	2010-08-05			ENSG00000137767	ENSG00000137767			20390	protein-coding gene	gene with protein product						10810093, 10224084	Standard	NM_021199		Approved	CGI-44	uc001zvu.4	Q9Y6N5	OTTHUMG00000131476	ENST00000260324.7:c.504G>T	15.37:g.45965849G>T						RP11-96O20.4_ENST00000564080.1_Silent_p.S168S|SQRDL_ENST00000568606.1_Silent_p.S168S	p.S168S	NM_021199.2	NP_067022.1	Q9Y6N5	SQRD_HUMAN		all cancers(107;5.89e-18)|GBM - Glioblastoma multiforme(94;1.21e-06)|COAD - Colon adenocarcinoma(120;0.17)|Colorectal(133;0.188)	5	890	+		Lung NSC(122;0.000117)|all_lung(180;0.000737)|Melanoma(134;0.0417)	168					Q9UQM8	Silent	SNP	ENST00000260324.7	37	c.504G>T	CCDS10127.1																																																																																				0.398	SQRDL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254319.2			60	278	1	0	4.13886e-29	1	5.22803e-29	60	278					T	45965849	G	T	45965849	2	4	61	1	0	0	0	0	0	0	0	1	15128	1045	37	5		5	SQRDL	15	45965849	Silent	SNP	G	TCGA-EJ-5512-01A-01D-1576-08	3663407	45965849	56565543	27	3139											
KIF23	9493	broad.mit.edu	37	chr15	69740133	69740133	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctggttgttatgttttaggcGcaaaaagccatgaactgaca	12	12	10	7	1	0	2	0	2	0	0	0	2	0	2	1	2	2	4	1	2	5	4			TCGA-EJ-5512-01A-01D-1576-08	TCGA-EJ-5512-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49224380-bffd-4048-93a7-fb4b19285c35	05c383c1-ef34-477c-b518-2b48a62f2443	g.chr15:69740133G>A	ENST00000260363.4	+	23	2987	c.2870G>A	c.(2869-2871)cGc>cAc	p.R957H	KIF23_ENST00000395392.2_Missense_Mutation_p.R949H|KIF23_ENST00000558585.1_Missense_Mutation_p.R670H|KIF23_ENST00000537891.1_Missense_Mutation_p.R670H|KIF23_ENST00000352331.4_Missense_Mutation_p.R853H|KIF23_ENST00000559279.1_Missense_Mutation_p.R853H	NM_138555.2	NP_612565.1	Q02241	KIF23_HUMAN	kinesin family member 23	957					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cytokinesis (GO:0000910)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic spindle elongation (GO:0000022)|positive regulation of cytokinesis (GO:0032467)|spindle midzone assembly involved in mitosis (GO:0051256)	centralspindlin complex (GO:0097149)|centrosome (GO:0005813)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|intercellular bridge (GO:0045171)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|midbody (GO:0030496)|mitotic spindle (GO:0072686)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule binding (GO:0008017)|microtubule motor activity (GO:0003777)	p.R957H(2)		central_nervous_system(1)|endometrium(4)|large_intestine(7)|lung(6)|prostate(2)|skin(1)	21						TGTTTTAGGCGCAAAAAGCCA	0.398																																						ENST00000260363.4																			2	Substitution - Missense(2)	p.R957H(2)	prostate(2)	central_nervous_system(1)|endometrium(4)|large_intestine(7)|lung(6)|prostate(2)|skin(1)	21						c.(2869-2871)cGc>cAc		kinesin family member 23							143	130	134					15																	69740133		2199	4298	6497	SO:0001583	missense	9493				blood coagulation|cytokinesis|microtubule-based movement|mitosis|mitotic spindle elongation	cytosol|kinesin complex|microtubule|midbody|nucleoplasm|spindle	ATP binding|microtubule motor activity|protein binding	g.chr15:69740133G>A	X67155	CCDS32278.1, CCDS32279.1	15q23	2008-03-03	2003-01-13	2003-01-17		ENSG00000137807		"Kinesins"	6392	protein-coding gene	gene with protein product		605064	"kinesin-like 5 (mitotic kinesin-like protein 1)"	KNSL5		1406973	Standard	NM_138555		Approved	MKLP1, MKLP-1	uc002asb.3	Q02241		ENST00000260363.4:c.2870G>A	15.37:g.69740133G>A	ENSP00000260363:p.Arg957His					KIF23_ENST00000537891.1_Missense_Mutation_p.R670H|KIF23_ENST00000352331.4_Missense_Mutation_p.R853H|KIF23_ENST00000395392.2_Missense_Mutation_p.R949H|KIF23_ENST00000558585.1_Missense_Mutation_p.R670H|KIF23_ENST00000559279.1_Missense_Mutation_p.R853H	p.R957H	NM_138555.2	NP_612565.1	Q02241	KIF23_HUMAN			23	2987	+			957					Q8WVP0	Missense_Mutation	SNP	ENST00000260363.4	37	c.2870G>A	CCDS32278.1	.	.	.	.	.	.	.	.	.	.	G	19.69	3.873821	0.72180	.	.	ENSG00000137807	ENST00000260363;ENST00000352331;ENST00000537891	T;T;T	0.78481	-1.0;-0.98;-1.18	5.03	5.03	0.67393	.	0.066041	0.64402	D	0.000008	T	0.78310	0.4263	N	0.14661	0.345	0.42665	D	0.993494	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.78314	0.991;0.984;0.991	T	0.81885	-0.0727	10	0.87932	D	0	.	13.73	0.62781	0.0:0.0:1.0:0.0	.	670;853;957	B4E1K0;Q02241-2;Q02241	.;.;KIF23_HUMAN	H	957;853;670	ENSP00000260363:R957H;ENSP00000304978:R853H;ENSP00000442969:R670H	ENSP00000260363:R957H	R	+	2	0	KIF23	67527187	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	3.547000	0.53663	2.604000	0.88044	0.650000	0.86243	CGC		0.398	KIF23-201	KNOWN	basic|CCDS	protein_coding	protein_coding				4	217	0	0	0	1	0	4	217					A	69740133	G	A	69740133	3	1	61	1	0	0	0	0	1	0	0	0	8291	1087	38	1	2960	1	KIF23	15	69740133	Missense_Mutation	SNP	G	TCGA-EJ-5512-01A-01D-1576-08	23774284	69740133	32791259	28	3140											
JPH3	57338	broad.mit.edu	37	chr16	87678351	87678351	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accaccgagacctacgtgggCgagtggaagaacgacaaacg	14	3	13	11	5	0	2	0	0	0	2	0	6	0	3	3	2	3	0	3	2	4	1	rs144950183	byFrequency	TCGA-EJ-5512-01A-01D-1576-08	TCGA-EJ-5512-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49224380-bffd-4048-93a7-fb4b19285c35	05c383c1-ef34-477c-b518-2b48a62f2443	g.chr16:87678351C>T	ENST00000284262.2	+	2	1112	c.870C>T	c.(868-870)ggC>ggT	p.G290G		NM_020655.2	NP_065706.2	Q8WXH2	JPH3_HUMAN	junctophilin 3	290					calcium ion transport into cytosol (GO:0060402)|exploration behavior (GO:0035640)|learning (GO:0007612)|locomotion (GO:0040011)|memory (GO:0007613)|neuromuscular process controlling balance (GO:0050885)|regulation of neuronal synaptic plasticity (GO:0048168)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)	calcium-release channel activity (GO:0015278)	p.G290G(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(80;0.0287)		CCTACGTGGGCGAGTGGAAGA	0.672																																						ENST00000284262.2																			1	Substitution - coding silent(1)	p.G290G(1)	prostate(1)	breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30						c.(868-870)ggC>ggT		junctophilin 3		C		1,4395	2.1+/-5.4	0,1,2197	90	86	88		870	2.9	1	16	dbSNP_134	88	5,8595	4.3+/-15.6	0,5,4295	no	coding-synonymous	JPH3	NM_020655.2		0,6,6492	TT,TC,CC		0.0581,0.0227,0.0462		290/749	87678351	6,12990	2198	4300	6498	SO:0001819	synonymous_variant	57338				calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane|plasma membrane	protein binding	g.chr16:87678351C>T	AB042636	CCDS10962.1	16q24.3	2008-02-05	2002-11-13		ENSG00000154118	ENSG00000154118			14203	protein-coding gene	gene with protein product		605268	"trinucleotide repeat containing 22"	TNRC22		10949023, 10891348	Standard	NM_020655		Approved	JP-3, CAGL237, HDL2, JP3	uc002fkd.4	Q8WXH2	OTTHUMG00000137656	ENST00000284262.2:c.870C>T	16.37:g.87678351C>T							p.G290G	NM_020655.2	NP_065706.2	Q8WXH2	JPH3_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0287)	2	1112	+			290					D3DUN2|Q8N471|Q9HDC3|Q9HDC4	Silent	SNP	ENST00000284262.2	37	c.870C>T	CCDS10962.1																																																																																				0.672	JPH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269108.2			4	90	0	0	0	1	0	4	90					T	87678351	C	T	87678351	2	4	61	1	0	0	0	0	0	0	0	1	7962	755	27	1		1	JPH3	16	87678351	Silent	SNP	C	TCGA-EJ-5512-01A-01D-1576-08		87678351	2676402	29	3141											
TRPV2	51393	broad.mit.edu	37	chr17	16321054	16321054	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggccaagaagatggctctgaGgcggacagaggaaagctgga	13	4	17	7	1	1	4	0	1	1	3	1	7	1	7	1	6	1	2	1	6	3	0			TCGA-EJ-5512-01A-01D-1576-08	TCGA-EJ-5512-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49224380-bffd-4048-93a7-fb4b19285c35	05c383c1-ef34-477c-b518-2b48a62f2443	g.chr17:16321054G>T	ENST00000338560.7	+	2	471	c.72G>T	c.(70-72)gaG>gaT	p.E24D	TRPV2_ENST00000577397.1_5'UTR|RP11-138I1.2_ENST00000580996.1_RNA	NM_016113.4	NP_057197.2	Q9Y5S1	TRPV2_HUMAN	transient receptor potential cation channel, subfamily V, member 2	24	Required for interaction with SLC50A1. {ECO:0000250}.				calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|positive regulation of axon extension (GO:0045773)|positive regulation of calcium ion import (GO:0090280)|response to heat (GO:0009408)|response to temperature stimulus (GO:0009266)|sensory perception (GO:0007600)|transmembrane transport (GO:0055085)|transport (GO:0006810)	axonal growth cone (GO:0044295)|cell body (GO:0044297)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endomembrane system (GO:0012505)|growth cone membrane (GO:0032584)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)|ion channel activity (GO:0005216)|ion transmembrane transporter activity (GO:0015075)	p.E24D(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|stomach(3)	28				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)		ATGGCTCTGAGGCGGACAGAG	0.577																																						ENST00000338560.7																			1	Substitution - Missense(1)	p.E24D(1)	prostate(1)	breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|stomach(3)	28						c.(70-72)gaG>gaT		transient receptor potential cation channel, subfamily V, member 2							72	65	67					17																	16321054		2203	4300	6503	SO:0001583	missense	51393				sensory perception	integral to plasma membrane|melanosome	calcium channel activity	g.chr17:16321054G>T	AF129112	CCDS32576.1	17p11.2	2013-01-10			ENSG00000187688	ENSG00000187688		"Voltage-gated ion channels / Transient receptor potential cation channels", "Ankyrin repeat domain containing"	18082	protein-coding gene	gene with protein product		606676				10201375, 16382100	Standard	NM_016113		Approved	VRL, VRL-1, VRL1	uc002gpy.3	Q9Y5S1	OTTHUMG00000058989	ENST00000338560.7:c.72G>T	17.37:g.16321054G>T	ENSP00000342222:p.Glu24Asp					TRPV2_ENST00000577397.1_5'UTR	p.E24D	NM_016113.4	NP_057197.2	Q9Y5S1	TRPV2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)	2	471	+			24			Required for interaction with SLC50A1 (By similarity).		A6NML2|A8K0Z0|Q9Y670	Missense_Mutation	SNP	ENST00000338560.7	37	c.72G>T	CCDS32576.1	.	.	.	.	.	.	.	.	.	.	G	10.92	1.487454	0.26686	.	.	ENSG00000187688	ENST00000338560	D	0.87412	-2.25	5.62	2.15	0.27550	.	1.885670	0.02180	N	0.060405	T	0.80534	0.4641	L	0.44542	1.39	0.09310	N	0.999997	B	0.02656	0.0	B	0.01281	0.0	T	0.58858	-0.7562	10	0.15952	T	0.53	-11.2032	1.8171	0.03102	0.1772:0.2147:0.4583:0.1499	.	24	Q9Y5S1	TRPV2_HUMAN	D	24	ENSP00000342222:E24D	ENSP00000342222:E24D	E	+	3	2	TRPV2	16261779	0.043000	0.20138	0.220000	0.23810	0.010000	0.07245	-0.147000	0.10234	0.814000	0.34374	0.557000	0.71058	GAG		0.577	TRPV2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130464.2	NM_016113		4	109	1	0	0.00024832	1	0.000283794	4	109					T	16321054	G	T	16321054	3	4	61	1	0	0	0	0	1	0	0	0	16593	991	35	5	74	5	TRPV2	17	16321054	Missense_Mutation	SNP	G	TCGA-EJ-5512-01A-01D-1576-08		16321054	64874156	30	3142											
CRLF3	51379	broad.mit.edu	37	chr17	29111372	29111372	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attactggtggttcctagagTcacggcttcaatgtcaaacg	10	12	10	9	2	3	1	3	0	0	1	4	1	4	1	1	3	2	2	1	3	4	4			TCGA-EJ-5512-01A-01D-1576-08	TCGA-EJ-5512-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49224380-bffd-4048-93a7-fb4b19285c35	05c383c1-ef34-477c-b518-2b48a62f2443	g.chr17:29111372T>G	ENST00000324238.6	-	8	1286	c.1162A>C	c.(1162-1164)Act>Cct	p.T388P	CRLF3_ENST00000577725.1_5'Flank|CRLF3_ENST00000544695.1_Missense_Mutation_p.T272P|CTD-2349P21.10_ENST00000585212.1_RNA	NM_015986.3	NP_057070.3	Q8IUI8	CRLF3_HUMAN	cytokine receptor-like factor 3	388					G1/S transition of mitotic cell cycle (GO:0000082)|negative regulation of cell growth (GO:0030308)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)	cytoplasm (GO:0005737)		p.T388P(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	17		all_hematologic(16;0.014)|Acute lymphoblastic leukemia(14;0.0236)|Myeloproliferative disorder(56;0.0255)				GTTCCTAGAGTCACGGCTTCA	0.388																																					Pancreas(30;346 881 29244 33464 41299)	ENST00000324238.6																			1	Substitution - Missense(1)	p.T388P(1)	prostate(1)	endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	17						c.(1162-1164)Act>Cct		cytokine receptor-like factor 3							81	77	79					17																	29111372		2203	4300	6503	SO:0001583	missense	51379				negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|positive regulation of cell cycle arrest|positive regulation of JAK-STAT cascade|positive regulation of transcription from RNA polymerase II promoter	cytoplasm		g.chr17:29111372T>G	AF120151	CCDS32607.1	17q11.2	2008-05-02				ENSG00000176390			17177	protein-coding gene	gene with protein product		614853					Standard	NM_015986		Approved	CREME9, CYTOR4	uc002hfr.4	Q8IUI8		ENST00000324238.6:c.1162A>C	17.37:g.29111372T>G	ENSP00000318804:p.Thr388Pro					CRLF3_ENST00000544695.1_Missense_Mutation_p.T272P	p.T388P	NM_015986.3	NP_057070.3	Q8IUI8	CRLF3_HUMAN			8	1286	-		all_hematologic(16;0.014)|Acute lymphoblastic leukemia(14;0.0236)|Myeloproliferative disorder(56;0.0255)	388					A6NJF3|B2R8C3|Q2MLY7|Q9UNI3|Q9Y6M8	Missense_Mutation	SNP	ENST00000324238.6	37	c.1162A>C	CCDS32607.1	.	.	.	.	.	.	.	.	.	.	T	9.993	1.231321	0.22626	.	.	ENSG00000176390	ENST00000324238;ENST00000544695	T;T	0.64618	-0.11;-0.11	5.17	5.17	0.71159	.	0.384774	0.30820	N	0.008811	T	0.45357	0.1338	N	0.17474	0.49	0.39955	D	0.974584	B	0.11235	0.004	B	0.12156	0.007	T	0.40757	-0.9546	10	0.32370	T	0.25	-17.3918	12.1077	0.53821	0.0:0.0:0.1533:0.8467	.	388	Q8IUI8	CRLF3_HUMAN	P	388;272	ENSP00000318804:T388P;ENSP00000444188:T272P	ENSP00000318804:T388P	T	-	1	0	CRLF3	26135498	1.000000	0.71417	1.000000	0.80357	0.515000	0.34225	3.963000	0.56773	2.069000	0.61940	0.460000	0.39030	ACT		0.388	CRLF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444354.1			3	137	0	0	0	1	0	3	137					G	29111372	T	G	29111372	3	3	61	1	0	0	0	0	1	0	0	0	3888	1667	58	5	170	5	CRLF3	17	29111372	Missense_Mutation	SNP	T	TCGA-EJ-5512-01A-01D-1576-08	12790318	29111372	52083838	31	3143											
ACACA	31	broad.mit.edu	37	chr17	35600381	35600381	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tctccacattggggggaatgCggccagacacactggtcata	10	8	12	11	1	2	1	1	0	1	1	3	2	2	2	2	5	1	0	2	5	2	2			TCGA-EJ-5512-01A-01D-1576-08	TCGA-EJ-5512-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49224380-bffd-4048-93a7-fb4b19285c35	05c383c1-ef34-477c-b518-2b48a62f2443	g.chr17:35600381C>T	ENST00000394406.2	-	22	2916	c.2726G>A	c.(2725-2727)cGc>cAc	p.R909H	ACACA_ENST00000353139.5_Missense_Mutation_p.R946H|ACACA_ENST00000335166.5_Missense_Mutation_p.R831H|ACACA_ENST00000360679.3_Missense_Mutation_p.R851H	NM_198836.1	NP_942133.1	Q13085	ACACA_HUMAN	acetyl-CoA carboxylase alpha	909					acetyl-CoA metabolic process (GO:0006084)|biotin metabolic process (GO:0006768)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|lipid homeostasis (GO:0055088)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|malonyl-CoA biosynthetic process (GO:2001295)|multicellular organismal protein metabolic process (GO:0044268)|positive regulation of cellular metabolic process (GO:0031325)|protein homotetramerization (GO:0051289)|small molecule metabolic process (GO:0044281)|tissue homeostasis (GO:0001894)|triglyceride biosynthetic process (GO:0019432)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	acetyl-CoA carboxylase activity (GO:0003989)|ATP binding (GO:0005524)|biotin carboxylase activity (GO:0004075)|metal ion binding (GO:0046872)	p.R851H(1)|p.R946H(1)		NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	GGGGGGAATGCGGCCAGACAC	0.473																																					Colon(23;82 258 739 2117 10493 24037 27661 34815 35438 36249)	ENST00000353139.5																			2	Substitution - Missense(2)	p.R851H(1)|p.R946H(1)	prostate(2)	NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83						c.(2836-2838)cGc>cAc		acetyl-CoA carboxylase alpha	Biotin(DB00121)						213	203	206					17																	35600381		2203	4300	6503	SO:0001583	missense	31				acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding	g.chr17:35600381C>T	U19822	CCDS11317.1, CCDS11318.1, CCDS42302.1, CCDS42303.1	17q21	2014-05-06	2010-04-30		ENSG00000132142	ENSG00000278540	6.4.1.2		84	protein-coding gene	gene with protein product	"acetyl-CoA carboxylase 1"	200350	"acetyl-Coenzyme A carboxylase alpha"	ACAC, ACC			Standard	NM_198837		Approved	ACC1	uc002hno.3	Q13085	OTTHUMG00000188463	ENST00000394406.2:c.2726G>A	17.37:g.35600381C>T	ENSP00000377928:p.Arg909His					ACACA_ENST00000360679.3_Missense_Mutation_p.R851H|ACACA_ENST00000335166.5_Missense_Mutation_p.R831H|ACACA_ENST00000394406.2_Missense_Mutation_p.R909H	p.R946H	NM_198834.1|NM_198839.1	NP_942131.1|NP_942136.1	Q13085	ACACA_HUMAN			22	3318	-		Breast(25;0.00157)|Ovarian(249;0.15)	909					B2RP68|Q6KEV6|Q6XDA8|Q7Z2G8|Q7Z561|Q7Z563|Q7Z564|Q86WB2|Q86WB3	Missense_Mutation	SNP	ENST00000394406.2	37	c.2837G>A	CCDS11317.1	.	.	.	.	.	.	.	.	.	.	C	28.6	4.933724	0.92458	.	.	ENSG00000132142	ENST00000353139;ENST00000360679;ENST00000394406;ENST00000452074;ENST00000335166	T;T;T;T	0.63744	-0.06;-0.06;-0.06;-0.06	4.9	4.9	0.64082	Acetyl-CoA carboxylase, central domain (1);	0.000000	0.85682	D	0.000000	D	0.83852	0.5344	M	0.92367	3.3	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.998;0.998	D	0.87409	0.2374	10	0.59425	D	0.04	-7.9292	17.246	0.87028	0.0:1.0:0.0:0.0	.	946;909;851	Q13085-4;Q13085;Q13085-2	.;ACACA_HUMAN;.	H	946;851;909;933;831	ENSP00000344789:R946H;ENSP00000353898:R851H;ENSP00000377928:R909H;ENSP00000335323:R831H	ENSP00000335323:R831H	R	-	2	0	ACACA	32674494	1.000000	0.71417	1.000000	0.80357	0.788000	0.44548	7.643000	0.83403	2.551000	0.86045	0.563000	0.77884	CGC		0.473	ACACA-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256696.1	NM_198836		6	475	0	0	0	1	0	6	475					T	35600381	C	T	35600381	3	4	61	1	0	0	0	0	1	0	0	0	106	768	27	1	4454	1	ACACA	17	35600381	Missense_Mutation	SNP	C	TCGA-EJ-5512-01A-01D-1576-08	6489009	35600381	45594829	32	3144											
COIL	8161	broad.mit.edu	37	chr17	55028287	55028287	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccgcttctttgcttttctaaGagataaattaatgtcaccat	11	16	5	9	1	3	1	1	0	2	1	3	2	3	1	2	0	1	2	2	0	4	7			TCGA-EJ-5512-01A-01D-1576-08	TCGA-EJ-5512-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49224380-bffd-4048-93a7-fb4b19285c35	05c383c1-ef34-477c-b518-2b48a62f2443	g.chr17:55028287G>A	ENST00000240316.4	-	2	350	c.316C>T	c.(316-318)Ctt>Ttt	p.L106F		NM_004645.2	NP_004636.1	P38432	COIL_HUMAN	coilin	106						Cajal body (GO:0015030)|cytoplasm (GO:0005737)|female germ cell nucleus (GO:0001674)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	disulfide oxidoreductase activity (GO:0015036)|identical protein binding (GO:0042802)|protein C-terminus binding (GO:0008022)	p.L106F(1)		NS(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|urinary_tract(1)	15	Breast(9;6.15e-08)					GCTTTTCTAAGAGATAAATTA	0.378																																						ENST00000240316.4																			1	Substitution - Missense(1)	p.L106F(1)	prostate(1)	NS(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|urinary_tract(1)	15						c.(316-318)Ctt>Ttt		coilin							70	74	73					17																	55028287		2201	4298	6499	SO:0001583	missense	8161					Cajal body|nucleolus	protein C-terminus binding	g.chr17:55028287G>A	U06632	CCDS11592.1	17q22	2012-10-02			ENSG00000121058	ENSG00000121058			2184	protein-coding gene	gene with protein product		600272				7971277	Standard	NM_004645		Approved	CLN80, p80-coilin	uc002iuu.3	P38432	OTTHUMG00000178126	ENST00000240316.4:c.316C>T	17.37:g.55028287G>A	ENSP00000240316:p.Leu106Phe						p.L106F	NM_004645.2	NP_004636.1	P38432	COIL_HUMAN			2	350	-	Breast(9;6.15e-08)		106					B2R931	Missense_Mutation	SNP	ENST00000240316.4	37	c.316C>T	CCDS11592.1	.	.	.	.	.	.	.	.	.	.	G	6.926	0.540574	0.13250	.	.	ENSG00000121058	ENST00000240316	T	0.41758	0.99	5.84	-0.966	0.10320	.	1.151300	0.06110	N	0.667056	T	0.19167	0.0460	N	0.08118	0	0.09310	N	1	B	0.12630	0.006	B	0.12837	0.008	T	0.18147	-1.0346	10	0.32370	T	0.25	-1.0566	1.2869	0.02052	0.317:0.2474:0.3097:0.1259	.	106	P38432	COIL_HUMAN	F	106	ENSP00000240316:L106F	ENSP00000240316:L106F	L	-	1	0	COIL	52383286	0.014000	0.17966	0.038000	0.18304	0.038000	0.13279	0.223000	0.17719	0.069000	0.16605	-0.172000	0.13284	CTT		0.378	COIL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440618.1			4	230	0	0	0	1	0	4	230					A	55028287	G	A	55028287	3	1	61	1	0	0	0	0	1	0	0	0	3665	942	33	3	1438	3	COIL	17	55028287	Missense_Mutation	SNP	G	TCGA-EJ-5512-01A-01D-1576-08	19427906	55028287	26166923	33	3145											
CD79B	974	broad.mit.edu	37	chr17	62007651	62007651	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagagccagctcacattgccGgaggcgctgttcatgtagca	9	8	12	12	2	2	1	2	0	0	1	2	2	2	2	2	2	4	5	2	2	1	3			TCGA-EJ-5512-01A-01D-1576-08	TCGA-EJ-5512-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49224380-bffd-4048-93a7-fb4b19285c35	05c383c1-ef34-477c-b518-2b48a62f2443	g.chr17:62007651G>A	ENST00000006750.3	-	3	305	c.213C>T	c.(211-213)tcC>tcT	p.S71S	CD79B_ENST00000392795.3_Silent_p.S72S|CD79B_ENST00000349817.2_Intron	NM_000626.2|NM_021602.2	NP_000617.1|NP_067613.1	P40259	CD79B_HUMAN	CD79b molecule, immunoglobulin-associated beta	71	Ig-like V-type.				B cell receptor signaling pathway (GO:0050853)|immune response (GO:0006955)|signal transduction (GO:0007165)	B cell receptor complex (GO:0019815)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	transmembrane signaling receptor activity (GO:0004888)	p.S71S(1)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(6)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|stomach(1)	15						TCACATTGCCGGAGGCGCTGT	0.567			"Mis, O"		DLBCL																																	ENST00000006750.3				Dom	yes		17	17q23	974	"Mis, O"	"CD79b molecule, immunoglobulin-associated beta"			L			DLBCL		1	Substitution - coding silent(1)	p.S71S(1)	prostate(1)	breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(6)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|stomach(1)	15						c.(211-213)tcC>tcT		CD79b molecule, immunoglobulin-associated beta							96	83	88					17																	62007651		2203	4300	6503	SO:0001819	synonymous_variant	0				cell surface receptor linked signaling pathway|immune response	Golgi apparatus|integral to plasma membrane|nucleus	transmembrane receptor activity	g.chr17:62007651G>A	L27587	CCDS11655.1, CCDS11656.1, CCDS42372.1	17q23	2014-09-17	2006-03-28			ENSG00000007312		"CD molecules", "Immunoglobulin superfamily / V-set domain containing"	1699	protein-coding gene	gene with protein product		147245	"CD79B antigen (immunoglobulin-associated beta)"	IGB		9545642	Standard	XM_005257858		Approved	B29	uc002jdp.1	P40259		ENST00000006750.3:c.213C>T	17.37:g.62007651G>A						CD79B_ENST00000392795.3_Silent_p.S72S|CD79B_ENST00000349817.2_Intron	p.S71S	NM_000626.2|NM_021602.2	NP_000617.1|NP_067613.1	P40259	CD79B_HUMAN			3	305	-			71			Ig-like V-type.		Q53FS2|Q9BU06	Silent	SNP	ENST00000006750.3	37	c.213C>T	CCDS11655.1																																																																																				0.567	CD79B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417711.1			12	88	0	0	0	1	0	12	88					A	62007651	G	A	62007651	2	1	61	1	0	0	0	0	0	0	0	1	3037	1103	39	2		2	CD79B	17	62007651	Silent	SNP	G	TCGA-EJ-5512-01A-01D-1576-08	6979364	62007651	19187559	34	3146											
PARVB	29780	broad.mit.edu	37	chr22	44527372	44527372	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgcttctcattgcagaaaaaCtggcagggtgcaagctgaat	12	10	11	8	0	1	2	1	1	1	1	2	2	1	2	0	2	5	5	0	2	4	2			TCGA-EJ-5512-01A-01D-1576-08	TCGA-EJ-5512-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49224380-bffd-4048-93a7-fb4b19285c35	05c383c1-ef34-477c-b518-2b48a62f2443	g.chr22:44527372C>G	ENST00000338758.7	+	5	445	c.382C>G	c.(382-384)Ctg>Gtg	p.L128V	PARVB_ENST00000404989.1_Missense_Mutation_p.L91V|PARVB_ENST00000406477.3_Missense_Mutation_p.L161V	NM_013327.4	NP_037459.2	Q9HBI1	PARVB_HUMAN	parvin, beta	128	CH 1. {ECO:0000255|PROSITE- ProRule:PRU00044}.				actin cytoskeleton reorganization (GO:0031532)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell projection assembly (GO:0030031)|establishment or maintenance of cell polarity regulating cell shape (GO:0071963)|lamellipodium assembly (GO:0030032)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)		p.L161V(1)		NS(1)|breast(1)|endometrium(3)|large_intestine(7)|lung(8)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	25		Ovarian(80;0.0246)|all_neural(38;0.0423)				TGCAGAAAAACTGGCAGGGTG	0.542																																						ENST00000338758.6																			1	Substitution - Missense(1)	p.L161V(1)	prostate(1)	NS(1)|breast(1)|endometrium(3)|large_intestine(7)|lung(8)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	25						c.(382-384)Ctg>Gtg		parvin, beta							78	66	70					22																	44527372		2203	4300	6503	SO:0001583	missense	29780				cell adhesion|cell junction assembly	cytoskeleton|cytosol|focal adhesion	actin binding	g.chr22:44527372C>G	AF151814	CCDS14056.1, CCDS46724.1, CCDS58808.1, CCDS74874.1	22q13.2-q13.33	2013-01-24			ENSG00000188677	ENSG00000188677		"Parvins"	14653	protein-coding gene	gene with protein product	"affixin"	608121				10810093, 11171322	Standard	NM_001003828		Approved	CGI-56	uc003ben.3	Q9HBI1	OTTHUMG00000150665	ENST00000338758.7:c.382C>G	22.37:g.44527372C>G	ENSP00000342492:p.Leu128Val					PARVB_ENST00000406477.3_Missense_Mutation_p.L161V|PARVB_ENST00000404989.1_Missense_Mutation_p.L91V	p.L128V	NM_013327.4	NP_037459.2	Q9HBI1	PARVB_HUMAN			5	445	+		Ovarian(80;0.0246)|all_neural(38;0.0423)	128			CH 1.		B0QYM8|B0QYN1|B2R9X6|Q5TGJ5|Q86X93|Q96PN1|Q9NSP7|Q9UGT3|Q9Y368|Q9Y3L6|Q9Y3L7	Missense_Mutation	SNP	ENST00000338758.7	37	c.382C>G	CCDS14056.1	.	.	.	.	.	.	.	.	.	.	C	18.71	3.682657	0.68157	.	.	ENSG00000188677	ENST00000406477;ENST00000338758;ENST00000444029;ENST00000404989	T;T;T;T	0.69685	-0.42;-0.42;-0.42;-0.42	5.17	3.93	0.45458	Calponin homology domain (5);	0.000000	0.64402	D	0.000001	D	0.82342	0.5016	M	0.88640	2.97	0.80722	D	1	D;D;D;D	0.89917	1.0;0.988;1.0;1.0	D;D;D;D	0.91635	0.998;0.966;0.999;0.997	D	0.84824	0.0798	10	0.87932	D	0	-3.7055	10.6212	0.45481	0.0:0.8556:0.0:0.1444	.	128;91;128;161	A6NG58;B0QYM8;Q9HBI1;Q9HBI1-2	.;.;PARVB_HUMAN;.	V	161;128;126;91	ENSP00000384515:L161V;ENSP00000342492:L128V;ENSP00000393758:L126V;ENSP00000384353:L91V	ENSP00000342492:L128V	L	+	1	2	PARVB	42858705	0.973000	0.33851	0.923000	0.36655	0.944000	0.59088	2.275000	0.43399	2.407000	0.81776	0.655000	0.94253	CTG		0.542	PARVB-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319518.2	NM_001003828		7	78	0	0	0	1	0	7	78					G	44527372	C	G	44527372	3	3	61	1	0	0	0	0	1	0	0	0	11469	564	20	5	619	5	PARVB	22	44527372	Missense_Mutation	SNP	C	TCGA-EJ-5512-01A-01D-1576-08		44527372	6777194	35	3147											
S100PBP	64766	broad.mit.edu	37	chr1	33291705	33291705	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttatttctccagaaatgaTgtgctcacgggtgccctctg	7	14	9	11	1	4	2	1	1	3	1	5	2	4	2	2	1	2	1	2	1	2	2			TCGA-EJ-5514-01A-01D-1576-08	TCGA-EJ-5514-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f28f091d-5cd5-447f-b956-3ef7eb305fe2	7b498228-7d17-4b2e-b815-123ebfe1f366	g.chr1:33291705T>C	ENST00000373475.5	+	3	259	c.5T>C	c.(4-6)aTg>aCg	p.M2T	S100PBP_ENST00000398243.3_Missense_Mutation_p.M2T|S100PBP_ENST00000356689.3_3'UTR|S100PBP_ENST00000373476.1_Missense_Mutation_p.M2T	NM_022753.3	NP_073590.2			S100P binding protein									p.M2T(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|stomach(1)	16		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)				CCAGAAATGATGTGCTCACGG	0.428																																						ENST00000373475.5																			1	Substitution - Missense(1)	p.M2T(1)	prostate(1)	endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|stomach(1)	16						c.(4-6)aTg>aCg		S100P binding protein							101	96	97					1																	33291705		2203	4300	6503	SO:0001583	missense	64766					nucleus	calcium-dependent protein binding	g.chr1:33291705T>C	BX647916	CCDS30666.1	1p35.1	2008-02-05			ENSG00000116497	ENSG00000116497			25768	protein-coding gene	gene with protein product	"S100P binding protein 1"	611889				12477932	Standard	NM_022753		Approved	FLJ12903, S100PBPR	uc001bwc.4	Q96BU1	OTTHUMG00000003955	ENST00000373475.5:c.5T>C	1.37:g.33291705T>C	ENSP00000362574:p.Met2Thr					S100PBP_ENST00000373476.1_Missense_Mutation_p.M2T|S100PBP_ENST00000398243.3_Missense_Mutation_p.M2T|S100PBP_ENST00000356689.3_3'UTR	p.M2T	NM_022753.3	NP_073590.2	Q96BU1	S1PBP_HUMAN			3	259	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)	2						Missense_Mutation	SNP	ENST00000373475.5	37	c.5T>C	CCDS30666.1	.	.	.	.	.	.	.	.	.	.	T	0.018	-1.482349	0.01027	.	.	ENSG00000116497	ENST00000530710;ENST00000373476;ENST00000373475;ENST00000529027;ENST00000531123;ENST00000398243;ENST00000356689;ENST00000526230;ENST00000531256;ENST00000482212;ENST00000530552	.	.	.	5.32	-1.53	0.08611	.	0.644054	0.15814	N	0.243325	T	0.09949	0.0244	N	0.01576	-0.805	0.22330	N	0.999197	B;B	0.06786	0.001;0.001	B;B	0.04013	0.001;0.001	T	0.36261	-0.9755	9	0.02654	T	1	2.0926	9.53	0.39187	0.0:0.4877:0.0:0.5123	.	2;2	A8MTZ6;Q96BU1	.;S1PBP_HUMAN	T	2	.	ENSP00000349117:M2T	M	+	2	0	S100PBP	33064292	0.983000	0.35010	0.950000	0.38849	0.823000	0.46562	-0.070000	0.11523	-0.351000	0.08249	-0.250000	0.11733	ATG		0.428	S100PBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011266.1	NM_022753		48	106	0	0	0	0.870114	0	48	106					C	33291705	T	C	33291705	3	2	62	1	0	0	0	0	1	0	0	0	13791	1464	51	4	7	4	S100PBP	1	33291705	Missense_Mutation	SNP	T	TCGA-EJ-5514-01A-01D-1576-08		33291705	215958916	1	3148											
C1orf177	163747	broad.mit.edu	37	chr1	55280637	55280637	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caagagaagaaatgcaaaccCgtcaaccagcccccattcct	15	5	6	15	1	1	2	1	0	0	2	2	3	2	2	5	0	4	1	5	0	5	1	rs200876449		TCGA-EJ-5514-01A-01D-1576-08	TCGA-EJ-5514-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f28f091d-5cd5-447f-b956-3ef7eb305fe2	7b498228-7d17-4b2e-b815-123ebfe1f366	g.chr1:55280637C>T	ENST00000371273.3	+	8	990	c.975C>T	c.(973-975)ccC>ccT	p.P325P	C1orf177_ENST00000358193.3_Silent_p.P325P	NM_001110533.1	NP_001104003	Q3ZCV2	CA177_HUMAN	chromosome 1 open reading frame 177	325								p.P325P(1)		breast(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(6)|prostate(2)	17						AATGCAAACCCGTCAACCAGC	0.547													C|||	1	0.000199681	0	0.0014	5008	,	,		20294	0		0	False		,,,				2504	0					ENST00000358193.3																			1	Substitution - coding silent(1)	p.P325P(1)	prostate(1)	breast(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(6)|prostate(2)	17						c.(973-975)ccC>ccT		chromosome 1 open reading frame 177							113	114	113					1																	55280637		2203	4300	6503	SO:0001819	synonymous_variant	163747							g.chr1:55280637C>T	AK097520	CCDS599.1, CCDS44153.1	1p32.3	2012-07-25			ENSG00000162398	ENSG00000162398			26854	protein-coding gene	gene with protein product							Standard	NM_152607		Approved	FLJ40201	uc001cyb.4	Q3ZCV2	OTTHUMG00000009986	ENST00000371273.3:c.975C>T	1.37:g.55280637C>T						C1orf177_ENST00000371273.3_Silent_p.P325P	p.P325P	NM_152607.2	NP_689820.2	Q3ZCV2	CA177_HUMAN			8	1029	+			325					B7WPL2|Q8N7Y9	Silent	SNP	ENST00000371273.3	37	c.975C>T	CCDS44153.1																																																																																				0.547	C1orf177-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000027674.1	NM_152607		41	140	0	0	0	0.859065	0	41	140					T	55280637	C	T	55280637	2	4	62	1	0	0	0	0	0	0	0	1	2017	639	23	2		2	C1orf177	1	55280637	Silent	SNP	C	TCGA-EJ-5514-01A-01D-1576-08	21988932	55280637	193969984	2	3149											
LRIG2	9860	broad.mit.edu	37	chr1	113636959	113636959	+	Splice_Site	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gctattatcttgtttattttAggaatttaagtaataacaga	14	18	6	3	0	1	1	0	0	1	1	1	2	1	2	0	1	1	3	0	1	8	11			TCGA-EJ-5514-01A-01D-1576-08	TCGA-EJ-5514-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f28f091d-5cd5-447f-b956-3ef7eb305fe2	7b498228-7d17-4b2e-b815-123ebfe1f366	g.chr1:113636959A>T	ENST00000361127.5	+	5	713		c.e5-1			NM_014813.1	NP_055628.1	O94898	LRIG2_HUMAN	leucine-rich repeats and immunoglobulin-like domains 2						innervation (GO:0060384)|regulation of platelet-derived growth factor receptor signaling pathway (GO:0010640)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.?(2)		breast(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(10)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1)	31	Lung SC(450;0.246)	all_cancers(81;1.56e-05)|all_epithelial(167;2.62e-05)|all_lung(203;0.000665)|Lung NSC(69;0.000986)		Lung(183;0.0279)|Colorectal(144;0.0885)|COAD - Colon adenocarcinoma(174;0.134)|all cancers(265;0.139)|Epithelial(280;0.143)|LUSC - Lung squamous cell carcinoma(189;0.15)		TGTTTATTTTAGGAATTTAAG	0.323																																						ENST00000361127.4																			2	Unknown(2)	p.?(2)	prostate(2)	breast(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(10)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1)	31						c.e5-1		leucine-rich repeats and immunoglobulin-like domains 2							33	33	33					1																	113636959		2203	4300	6503	SO:0001630	splice_region_variant	9860					cytoplasm|integral to membrane|plasma membrane		g.chr1:113636959A>T	AB018349	CCDS30808.1	1p13.1	2013-01-11			ENSG00000198799	ENSG00000198799		"Immunoglobulin superfamily / I-set domain containing"	20889	protein-coding gene	gene with protein product		608869					Standard	XM_005271369		Approved	KIAA0806	uc001edf.1	O94898	OTTHUMG00000012133	ENST00000361127.5:c.516-1A>T	1.37:g.113636959A>T								NM_014813.1	NP_055628.1	O94898	LRIG2_HUMAN		Lung(183;0.0279)|Colorectal(144;0.0885)|COAD - Colon adenocarcinoma(174;0.134)|all cancers(265;0.139)|Epithelial(280;0.143)|LUSC - Lung squamous cell carcinoma(189;0.15)	5	713	+	Lung SC(450;0.246)	all_cancers(81;1.56e-05)|all_epithelial(167;2.62e-05)|all_lung(203;0.000665)|Lung NSC(69;0.000986)						Q9NSN2	Splice_Site	SNP	ENST00000361127.5	37		CCDS30808.1	.	.	.	.	.	.	.	.	.	.	A	20.8	4.048488	0.75846	.	.	ENSG00000198799	ENST00000361127	.	.	.	5.65	5.65	0.86999	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.1864	0.81955	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	LRIG2	113438482	1.000000	0.71417	1.000000	0.80357	0.897000	0.52465	9.168000	0.94781	2.281000	0.76405	0.528000	0.53228	.		0.323	LRIG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033549.2	NM_014813	Intron	4	80	0	0	0	0.150653	0	4	80					T	113636959	A	T	113636959	5	4	62	1	0	0	0	0	0	0	1	0	8945	434	15	5	532	5	LRIG2	1	113636959	Splice_Site	SNP	A	TCGA-EJ-5514-01A-01D-1576-08	58356322	113636959	135613662	3	3150											
PBXIP1	57326	broad.mit.edu	37	chr1	154918697	154918697	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tttccagtgctcagccttccGgtctctctgcccatcccacc	4	12	6	19	1	3	0	1	0	2	0	7	0	6	0	6	1	3	1	6	1	0	2			TCGA-EJ-5514-01A-01D-1576-08	TCGA-EJ-5514-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f28f091d-5cd5-447f-b956-3ef7eb305fe2	7b498228-7d17-4b2e-b815-123ebfe1f366	g.chr1:154918697G>A	ENST00000368463.3	-	10	1524	c.1453C>T	c.(1453-1455)Cgg>Tgg	p.R485W	PBXIP1_ENST00000539880.1_Missense_Mutation_p.R312W|PBXIP1_ENST00000542459.1_Missense_Mutation_p.R330W|PBXIP1_ENST00000498553.1_5'Flank|PBXIP1_ENST00000368465.1_Missense_Mutation_p.R456W	NM_020524.2	NP_065385.2	Q96AQ6	PBIP1_HUMAN	pre-B-cell leukemia homeobox interacting protein 1	485					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|negative regulation of transcription, DNA-templated (GO:0045892)	cytosol (GO:0005829)|microtubule (GO:0005874)|nucleus (GO:0005634)	transcription corepressor activity (GO:0003714)	p.R485W(1)		breast(1)|kidney(2)|large_intestine(6)|lung(13)|prostate(1)|urinary_tract(1)	24	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			TCAGCCTTCCGGTCTCTCTGC	0.552																																						ENST00000368463.3																			1	Substitution - Missense(1)	p.R485W(1)	prostate(1)	breast(1)|kidney(2)|large_intestine(6)|lung(13)|prostate(1)|urinary_tract(1)	24						c.(1453-1455)Cgg>Tgg		pre-B-cell leukemia homeobox interacting protein 1							185	198	194					1																	154918697		2203	4300	6503	SO:0001583	missense	57326				cell differentiation|multicellular organismal development|negative regulation of transcription, DNA-dependent	cytosol|microtubule|nucleus	protein binding|transcription corepressor activity	g.chr1:154918697G>A	AF221521	CCDS1074.1	1q22	2008-02-05	2007-01-30		ENSG00000163346	ENSG00000163346			21199	protein-coding gene	gene with protein product			"pre-B-cell leukemia transcription factor interacting protein 1"			7505766, 10825160	Standard	NM_020524		Approved	HPIP	uc001ffr.3	Q96AQ6	OTTHUMG00000037369	ENST00000368463.3:c.1453C>T	1.37:g.154918697G>A	ENSP00000357448:p.Arg485Trp					PBXIP1_ENST00000539880.1_Missense_Mutation_p.R312W|PBXIP1_ENST00000368465.1_Missense_Mutation_p.R456W|PBXIP1_ENST00000542459.1_Missense_Mutation_p.R330W	p.R485W	NM_020524.2	NP_065385.2	Q96AQ6	PBIP1_HUMAN	BRCA - Breast invasive adenocarcinoma(34;0.00034)		10	1524	-	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245)		485					Q5T174|Q5T176|Q9H8X6|Q9HA02|Q9HD85	Missense_Mutation	SNP	ENST00000368463.3	37	c.1453C>T	CCDS1074.1	.	.	.	.	.	.	.	.	.	.	G	4.591	0.109778	0.08780	.	.	ENSG00000163346	ENST00000368465;ENST00000368463;ENST00000351146;ENST00000539880;ENST00000543593;ENST00000542459	T;T;T;T	0.12879	2.64;2.64;2.65;2.65	4.45	-7.69	0.01263	.	1.446590	0.03974	N	0.292228	T	0.01353	0.0044	N	0.08118	0	0.09310	N	1	B	0.14805	0.011	B	0.09377	0.004	T	0.35943	-0.9768	10	0.48119	T	0.1	-3.3631	0.4624	0.00518	0.3037:0.2078:0.292:0.1965	.	485	Q96AQ6	PBIP1_HUMAN	W	456;485;485;312;261;330	ENSP00000357450:R456W;ENSP00000357448:R485W;ENSP00000440142:R312W;ENSP00000438584:R330W	ENSP00000295523:R485W	R	-	1	2	PBXIP1	153185321	0.000000	0.05858	0.002000	0.10522	0.161000	0.22273	-0.312000	0.08113	-1.249000	0.02500	-1.098000	0.02139	CGG		0.552	PBXIP1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090943.1	NM_020524		17	546	0	0	0	0.557998	0	17	546					A	154918697	G	A	154918697	3	1	62	1	0	0	0	0	1	0	0	0	11496	1115	39	2	750	2	PBXIP1	1	154918697	Missense_Mutation	SNP	G	TCGA-EJ-5514-01A-01D-1576-08	41281738	154918697	94331924	4	3151											
NBAS	51594	broad.mit.edu	37	chr2	15468434	15468434	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tatgcaccaccacatttttgCccctaaaaagaaaaaaagta	18	9	4	10	0	0	1	0	0	0	1	0	1	0	1	4	0	2	2	4	0	8	5			TCGA-EJ-5514-01A-01D-1576-08	TCGA-EJ-5514-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f28f091d-5cd5-447f-b956-3ef7eb305fe2	7b498228-7d17-4b2e-b815-123ebfe1f366	g.chr2:15468434C>T	ENST00000281513.5	-	37	4375	c.4350G>A	c.(4348-4350)ggG>ggA	p.G1450G	NBAS_ENST00000441750.1_Silent_p.G1330G	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN	neuroblastoma amplified sequence	1450					negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:2000623)|nuclear-transcribed mRNA catabolic process (GO:0000956)	cytoplasm (GO:0005737)|membrane (GO:0016020)		p.G1450G(2)		NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						CACATTTTTGCCCCTaaaaag	0.388																																						ENST00000281513.5																			2	Substitution - coding silent(2)	p.G1450G(2)	prostate(1)|endometrium(1)	NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						c.(4348-4350)ggG>ggA		neuroblastoma amplified sequence							117	112	113					2																	15468434		2203	4300	6503	SO:0001819	synonymous_variant	51594							g.chr2:15468434C>T	BC051792	CCDS1685.1	2p24.3	2009-02-23			ENSG00000151779	ENSG00000151779			15625	protein-coding gene	gene with protein product		608025				9926938, 12706883	Standard	NM_015909		Approved	NAG	uc002rcc.2	A2RRP1	OTTHUMG00000121153	ENST00000281513.5:c.4350G>A	2.37:g.15468434C>T						NBAS_ENST00000441750.1_Silent_p.G1330G	p.G1450G	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN			37	4375	-			1450					O95790|Q2VPJ7|Q53TK6|Q86V39|Q8NFY8|Q9Y3W5	Silent	SNP	ENST00000281513.5	37	c.4350G>A	CCDS1685.1	.	.	.	.	.	.	.	.	.	.	C	0.143	-1.099915	0.01843	.	.	ENSG00000151779	ENST00000442506	T	0.19250	2.16	5.31	-1.69	0.08186	.	0.141685	0.64402	D	0.000004	T	0.20901	0.0503	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.11060	-1.0603	7	0.72032	D	0.01	.	1.3666	0.02202	0.3255:0.3079:0.2099:0.1567	.	.	.	.	D	498	ENSP00000398411:G498D	ENSP00000398411:G498D	G	-	2	0	NBAS	15385885	0.390000	0.25213	0.635000	0.29338	0.005000	0.04900	-0.633000	0.05483	-0.238000	0.09724	-0.808000	0.03180	GGC		0.388	NBAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241638.1	NM_015909		5	303	0	0	0	0.184627	0	5	303					T	15468434	C	T	15468434	2	4	62	1	0	0	0	0	0	0	0	1	10186	726	26	3		3	NBAS	2	15468434	Silent	SNP	C	TCGA-EJ-5514-01A-01D-1576-08		15468434	227730939	5	3152											
WDR43	23160	broad.mit.edu	37	chr2	29148007	29148007	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggcagttggtttcagcctacTattgagcgagtggtacgtag	8	12	14	7	2	1	1	1	1	0	0	1	2	1	1	1	3	4	5	1	3	4	7			TCGA-EJ-5514-01A-01D-1576-08	TCGA-EJ-5514-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f28f091d-5cd5-447f-b956-3ef7eb305fe2	7b498228-7d17-4b2e-b815-123ebfe1f366	g.chr2:29148007T>G	ENST00000407426.3	+	8	1130	c.1074T>G	c.(1072-1074)acT>acG	p.T358T	SNORD53_ENST00000579969.1_RNA|Y_RNA_ENST00000410292.1_RNA|SNORD53_SNORD92_ENST00000577887.1_RNA	NM_015131.1	NP_055946.1	Q15061	WDR43_HUMAN	WD repeat domain 43	358						nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.T401T(1)		breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)	20	Acute lymphoblastic leukemia(172;0.155)					TTCAGCCTACTATTGAGCGAG	0.413																																						ENST00000407426.3																			1	Substitution - coding silent(1)	p.T401T(1)	prostate(1)	breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)	20						c.(1072-1074)acT>acG		WD repeat domain 43							98	91	93					2																	29148007		1906	4120	6026	SO:0001819	synonymous_variant	23160					nucleolus		g.chr2:29148007T>G	D87716	CCDS46251.1	2p23.3	2013-01-09			ENSG00000163811	ENSG00000163811		"WD repeat domain containing"	28945	protein-coding gene	gene with protein product	"UTP5, small subunit (SSU) processome component, homolog (yeast)"					7584026, 7584028, 17699751	Standard	NM_015131		Approved	KIAA0007, NET12, UTP5	uc002rmo.2	Q15061	OTTHUMG00000152015	ENST00000407426.3:c.1074T>G	2.37:g.29148007T>G							p.T358T	NM_015131.1	NP_055946.1	Q15061	WDR43_HUMAN			8	1130	+	Acute lymphoblastic leukemia(172;0.155)		358					Q15395|Q92577	Silent	SNP	ENST00000407426.3	37	c.1074T>G	CCDS46251.1																																																																																				0.413	WDR43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324865.1	XM_087089		12	39	0	0	0	0.411799	0	12	39					G	29148007	T	G	29148007	2	3	62	1	0	0	0	0	0	0	0	1	17292	1509	53	5		5	WDR43	2	29148007	Silent	SNP	T	TCGA-EJ-5514-01A-01D-1576-08	13679573	29148007	214051366	6	3153											
ARID5A	10865	broad.mit.edu	37	chr2	97216909	97216909	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccaggagccccccaggaacaGcacagaacagcagggcctgg	12	1	13	15	0	0	1	0	0	0	1	0	3	0	3	5	4	5	2	5	4	2	0			TCGA-EJ-5514-01A-01D-1576-08	TCGA-EJ-5514-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f28f091d-5cd5-447f-b956-3ef7eb305fe2	7b498228-7d17-4b2e-b815-123ebfe1f366	g.chr2:97216909G>A	ENST00000357485.3	+	7	722	c.644G>A	c.(643-645)aGc>aAc	p.S215N	ARID5A_ENST00000454558.2_Missense_Mutation_p.S147N	NM_212481.1	NP_997646.1	Q03989	ARI5A_HUMAN	AT rich interactive domain 5A (MRF1-like)	215					chondrocyte differentiation (GO:0002062)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of histone acetylation (GO:0035066)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)	p.S215N(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|skin(1)|urinary_tract(2)	14						CCCAGGAACAGCACAGAACAG	0.587																																						ENST00000454558.2																			1	Substitution - Missense(1)	p.S215N(1)	prostate(1)	endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|skin(1)|urinary_tract(2)	14						c.(439-441)aGc>aAc		AT rich interactive domain 5A (MRF1-like)							60	67	65					2																	97216909		2203	4300	6503	SO:0001583	missense	10865				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding	g.chr2:97216909G>A	M62324	CCDS33251.1	2p11.1	2013-02-07			ENSG00000196843	ENSG00000196843		"-"	17361	protein-coding gene	gene with protein product	"modulator recognition factor 1"	611583				8649988	Standard	NM_212481		Approved	MRF-1, RP11-363D14	uc002swe.3	Q03989	OTTHUMG00000155229	ENST00000357485.3:c.644G>A	2.37:g.97216909G>A	ENSP00000350078:p.Ser215Asn					ARID5A_ENST00000357485.3_Missense_Mutation_p.S215N	p.S147N			Q03989	ARI5A_HUMAN			7	1617	+			215			ARID.		Q6NX37	Missense_Mutation	SNP	ENST00000357485.3	37	c.440G>A	CCDS33251.1	.	.	.	.	.	.	.	.	.	.	G	13.31	2.198701	0.38806	.	.	ENSG00000196843	ENST00000357485;ENST00000359765;ENST00000454558	T	0.65549	-0.16	5.01	2.22	0.28083	.	0.906771	0.09210	N	0.833373	T	0.49270	0.1547	L	0.51422	1.61	0.09310	N	1	P;B;B	0.42827	0.791;0.361;0.361	B;B;B	0.35859	0.212;0.118;0.118	T	0.32295	-0.9912	10	0.32370	T	0.25	-5.3032	4.859	0.13573	0.1899:0.1768:0.6333:0.0	.	215;147;215	A6NM59;C9J1Q0;Q03989	.;.;ARI5A_HUMAN	N	215;215;147	ENSP00000350078:S215N	ENSP00000350078:S215N	S	+	2	0	ARID5A	96580636	0.000000	0.05858	0.000000	0.03702	0.030000	0.12068	0.376000	0.20535	0.291000	0.22468	0.655000	0.94253	AGC		0.587	ARID5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338888.2	NM_212481		4	155	0	0	0	0.184627	0	4	155					A	97216909	G	A	97216909	3	1	62	1	0	0	0	0	1	0	0	0	921	971	34	3	670	3	ARID5A	2	97216909	Missense_Mutation	SNP	G	TCGA-EJ-5514-01A-01D-1576-08	68068902	97216909	145982464	7	3154											
IKZF2	22807	broad.mit.edu	37	chr2	213886796	213886796	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcgttccttgtgctcctcCagtgaactgcgctgcttgta	5	13	10	13	2	0	1	0	1	0	0	3	1	3	1	3	0	5	5	3	0	2	4			TCGA-EJ-5514-01A-01D-1576-08	TCGA-EJ-5514-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f28f091d-5cd5-447f-b956-3ef7eb305fe2	7b498228-7d17-4b2e-b815-123ebfe1f366	g.chr2:213886796C>G	ENST00000434687.1	-	7	942	c.633G>C	c.(631-633)ctG>ctC	p.L211L	IKZF2_ENST00000342002.2_Silent_p.L217L|IKZF2_ENST00000413091.3_Silent_p.L211L|IKZF2_ENST00000421754.2_Silent_p.L185L|IKZF2_ENST00000457361.1_Silent_p.L211L|AC079610.1_ENST00000415387.1_RNA|IKZF2_ENST00000451136.2_Intron|IKZF2_ENST00000374319.4_Silent_p.L185L|IKZF2_ENST00000374327.4_Silent_p.L66L			Q9UKS7	IKZF2_HUMAN	IKAROS family zinc finger 2 (Helios)	211					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.L211L(1)		NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Esophageal squamous(248;0.0559)|Renal(323;0.218)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;2.97e-07)|all cancers(144;1.53e-05)|LUSC - Lung squamous cell carcinoma(224;0.00599)|Lung(261;0.00792)		TGTGCTCCTCCAGTGAACTGC	0.507																																						ENST00000457361.1																			1	Substitution - coding silent(1)	p.L211L(1)	prostate(1)	NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						c.(631-633)ctG>ctC		IKAROS family zinc finger 2 (Helios)							147	120	129					2																	213886796		2203	4300	6503	SO:0001819	synonymous_variant	22807				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr2:213886796C>G	AF130863	CCDS2395.1, CCDS46507.1	2q13.1	2013-01-08	2006-08-25	2006-08-25	ENSG00000030419	ENSG00000030419		"Zinc fingers, C2H2-type", "IKAROS zinc fingers"	13177	protein-coding gene	gene with protein product		606234	"zinc finger protein, subfamily 1A, 2 (Helios)"	ZNFN1A2		9512513, 9560339	Standard	NM_001079526		Approved	Helios	uc002vem.3	Q9UKS7	OTTHUMG00000133005	ENST00000434687.1:c.633G>C	2.37:g.213886796C>G						IKZF2_ENST00000451136.2_Intron|IKZF2_ENST00000421754.2_Silent_p.L185L|IKZF2_ENST00000413091.3_Silent_p.L211L|IKZF2_ENST00000374319.4_Silent_p.L185L|IKZF2_ENST00000342002.2_Silent_p.L217L|IKZF2_ENST00000434687.1_Silent_p.L211L|IKZF2_ENST00000374327.4_Silent_p.L66L	p.L211L	NM_016260.2	NP_057344.2	Q9UKS7	IKZF2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;2.97e-07)|all cancers(144;1.53e-05)|LUSC - Lung squamous cell carcinoma(224;0.00599)|Lung(261;0.00792)	6	801	-		Esophageal squamous(248;0.0559)|Renal(323;0.218)	211					Q53YJ5|Q6PQC5|Q6PQC6|Q6PQC7|Q6PQC8|Q6PQD0|Q6PQD1|Q8N6S1	Silent	SNP	ENST00000434687.1	37	c.633G>C	CCDS2395.1																																																																																				0.507	IKZF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256593.3	NM_016260		6	122	0	0	0	0.217242	0	6	122					G	213886796	C	G	213886796	2	3	62	1	0	0	0	0	0	0	0	1	7615	581	21	5		5	IKZF2	2	213886796	Silent	SNP	C	TCGA-EJ-5514-01A-01D-1576-08	116669887	213886796	29312577	8	3155											
FN1	2335	broad.mit.edu	37	chr2	216236934	216236934	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcaaagatcatttgttgccCaacactgggttgctgaccag	10	11	9	11	0	2	2	2	1	0	1	2	2	2	2	2	1	3	3	2	1	2	3			TCGA-EJ-5514-01A-01D-1576-08	TCGA-EJ-5514-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f28f091d-5cd5-447f-b956-3ef7eb305fe2	7b498228-7d17-4b2e-b815-123ebfe1f366	g.chr2:216236934C>A	ENST00000359671.1	-	39	6404	c.6139G>T	c.(6139-6141)Ggg>Tgg	p.G2047W	FN1_ENST00000421182.1_Missense_Mutation_p.G1932W|FN1_ENST00000443816.1_Missense_Mutation_p.G1957W|FN1_ENST00000356005.4_Missense_Mutation_p.G1957W|FN1_ENST00000354785.4_Missense_Mutation_p.G2138W|FN1_ENST00000323926.6_Missense_Mutation_p.G2138W|FN1_ENST00000346544.3_Intron|FN1_ENST00000432072.2_Intron|FN1_ENST00000345488.5_Intron|FN1_ENST00000336916.4_Missense_Mutation_p.G2047W|FN1_ENST00000357867.4_Intron|FN1_ENST00000446046.1_Missense_Mutation_p.G2022W|FN1_ENST00000357009.2_Intron			P02751	FINC_HUMAN	fibronectin 1	2047	Connecting strand 3 (CS-3) (V region).				acute-phase response (GO:0006953)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|calcium-independent cell-matrix adhesion (GO:0007161)|cell adhesion (GO:0007155)|cell-substrate junction assembly (GO:0007044)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|integrin activation (GO:0033622)|leukocyte migration (GO:0050900)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of axon extension (GO:0045773)|regulation of cell shape (GO:0008360)|response to wounding (GO:0009611)|substrate adhesion-dependent cell spreading (GO:0034446)	apical plasma membrane (GO:0016324)|basal lamina (GO:0005605)|blood microparticle (GO:0072562)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|platelet alpha granule lumen (GO:0031093)	collagen binding (GO:0005518)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|peptidase activator activity (GO:0016504)|protease binding (GO:0002020)	p.G2047W(1)	FN1/ALK(2)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Ocriplasmin(DB08888)	ATTTGTTGCCCAACACTGGGT	0.532																																						ENST00000354785.4																		FN1/ALK(2)	1	Substitution - Missense(1)	p.G2047W(1)	prostate(1)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109						c.(6412-6414)Ggg>Tgg		fibronectin 1	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						102	91	95					2																	216236934		2203	4300	6503	SO:0001583	missense	2335				acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading	ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix	collagen binding|extracellular matrix structural constituent|heparin binding	g.chr2:216236934C>A		CCDS2399.1, CCDS2400.1, CCDS42813.1, CCDS42814.1, CCDS46510.1, CCDS46512.1	2q34	2014-01-30			ENSG00000115414	ENSG00000115414		"Fibronectin type III domain containing", "Endogenous ligands"	3778	protein-coding gene	gene with protein product	"migration-stimulating factor", "cold-insoluble globulin"	135600				2992939, 3003095	Standard	NM_054034		Approved	MSF, CIG, LETS, GFND2, FINC	uc002vfa.3	P02751	OTTHUMG00000133054	ENST00000359671.1:c.6139G>T	2.37:g.216236934C>A	ENSP00000352696:p.Gly2047Trp					FN1_ENST00000323926.6_Missense_Mutation_p.G2138W|FN1_ENST00000446046.1_Missense_Mutation_p.G2022W|FN1_ENST00000443816.1_Missense_Mutation_p.G1957W|FN1_ENST00000421182.1_Missense_Mutation_p.G1932W|FN1_ENST00000359671.1_Missense_Mutation_p.G2047W|FN1_ENST00000357867.4_Intron|FN1_ENST00000357009.2_Intron|FN1_ENST00000356005.4_Missense_Mutation_p.G1957W|FN1_ENST00000346544.3_Intron|FN1_ENST00000345488.5_Intron|FN1_ENST00000432072.2_Intron|FN1_ENST00000336916.4_Missense_Mutation_p.G2047W	p.G2138W			P02751	FINC_HUMAN		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	40	6781	-		Renal(323;0.127)	2047			Fibronectin type-III 16.		B7ZLF0|E9PE77|E9PG29|O95609|O95610|Q14312|Q14325|Q14326|Q17RV7|Q564H7|Q585T2|Q59EH1|Q60FE4|Q68DP8|Q68DP9|Q68DT4|Q6LDP6|Q6MZS0|Q6MZU5|Q6N025|Q6N0A6|Q7Z391|Q86T27|Q8IVI8|Q96KP7|Q96KP8|Q96KP9|Q9H1B8|Q9HAP3|Q9UMK2	Missense_Mutation	SNP	ENST00000359671.1	37	c.6412G>T		.	.	.	.	.	.	.	.	.	.	C	21.8	4.207290	0.79240	.	.	ENSG00000115414	ENST00000421182;ENST00000323926;ENST00000336916;ENST00000354785;ENST00000265313;ENST00000359671;ENST00000446046;ENST00000443816;ENST00000356005;ENST00000456923;ENST00000438981	T;T;T;T;T;T;T;T;T;T	0.60797	0.16;2.15;2.29;2.35;2.0;1.65;1.57;1.4;0.78;1.85	6.16	6.16	0.99307	.	0.075011	0.56097	D	0.000033	T	0.74824	0.3767	L	0.54323	1.7	0.80722	D	1	D;D;D;D;D;D;D;D;D;D	0.89917	1.0;0.999;0.999;0.999;1.0;0.999;1.0;1.0;0.998;0.999	D;D;D;D;D;D;D;D;D;D	0.97110	1.0;0.967;0.992;0.981;0.992;0.986;1.0;1.0;0.981;0.986	T	0.73720	-0.3894	10	0.72032	D	0.01	.	20.8598	0.99761	0.0:1.0:0.0:0.0	.	1838;2138;1957;2022;2047;2048;1932;1957;2138;2047	Q68CX6;P02751-7;P02751-8;E9PE77;P02751-3;E7ERA1;P02751-9;P02751-14;P02751-15;P02751	.;.;.;.;.;.;.;.;.;FINC_HUMAN	W	1932;2138;2047;2138;2048;2047;2022;1957;1957;764;141	ENSP00000394423:G1932W;ENSP00000323534:G2138W;ENSP00000338200:G2047W;ENSP00000346839:G2138W;ENSP00000352696:G2047W;ENSP00000410422:G2022W;ENSP00000415018:G1957W;ENSP00000348285:G1957W;ENSP00000416139:G764W;ENSP00000392565:G141W	ENSP00000265313:G2048W	G	-	1	0	FN1	215945179	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	5.359000	0.66074	2.937000	0.99478	0.650000	0.86243	GGG		0.532	FN1-204	KNOWN	basic	protein_coding	protein_coding		NM_212476		4	145	1	0	0.00909568	0.150653	0.00977446	4	145					A	216236934	C	A	216236934	3	1	62	1	0	0	0	0	1	0	0	0	5962	594	21	5	1049	5	FN1	2	216236934	Missense_Mutation	SNP	C	TCGA-EJ-5514-01A-01D-1576-08	2350138	216236934	26962439	9	3156											
CLSTN2	64084	broad.mit.edu	37	chr3	140123402	140123402	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ttctgtgtgtggtcccagggCcgtggtccatatacaggtga	6	12	14	9	1	1	1	0	1	1	0	3	1	3	1	3	4	1	0	3	4	2	3			TCGA-EJ-5514-01A-01D-1576-08	TCGA-EJ-5514-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f28f091d-5cd5-447f-b956-3ef7eb305fe2	7b498228-7d17-4b2e-b815-123ebfe1f366	g.chr3:140123402C>T	ENST00000458420.3	+	4	621	c.431C>T	c.(430-432)gCc>gTc	p.A144V	AC092988.1_ENST00000580582.1_RNA	NM_022131.2	NP_071414.2	Q9H4D0	CSTN2_HUMAN	calsyntenin 2	144	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)	calcium ion binding (GO:0005509)	p.A144V(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	87						GGTCCCAGGGCCGTGGTCCAT	0.547										HNSCC(16;0.037)																											GBM(45;858 913 3709 36904 37282)	ENST00000458420.3																			1	Substitution - Missense(1)	p.A144V(1)	prostate(1)	NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	87						c.(430-432)gCc>gTc		calsyntenin 2							76	64	68					3																	140123402		2203	4300	6503	SO:0001583	missense	64084				homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding	g.chr3:140123402C>T	AJ278018	CCDS3112.1	3q23	2011-07-01			ENSG00000158258	ENSG00000158258		"Cadherins / Cadherin-related"	17448	protein-coding gene	gene with protein product	"cadherin-related family member 13"	611323				12498782	Standard	NM_022131		Approved	CSTN2, CS2, FLJ39113, CDHR13	uc003etn.3	Q9H4D0	OTTHUMG00000160139	ENST00000458420.3:c.431C>T	3.37:g.140123402C>T	ENSP00000402460:p.Ala144Val	HNSCC(16;0.037)					p.A144V	NM_022131.2	NP_071414.2	Q9H4D0	CSTN2_HUMAN			4	621	+			144			Cadherin 1.		B2RCW5|D3DNF4|Q3SX54|Q3ZB76|Q5UE56|Q96HZ2|Q9BSS0	Missense_Mutation	SNP	ENST00000458420.3	37	c.431C>T	CCDS3112.1	.	.	.	.	.	.	.	.	.	.	C	32	5.165682	0.94768	.	.	ENSG00000158258	ENST00000458420	T	0.51817	0.69	5.51	5.51	0.81932	Cadherin (4);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.66187	0.2764	M	0.64630	1.985	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	T	0.64166	-0.6471	10	0.41790	T	0.15	-10.2677	16.9267	0.86178	0.0:1.0:0.0:0.0	.	144	Q9H4D0	CSTN2_HUMAN	V	144	ENSP00000402460:A144V	ENSP00000402460:A144V	A	+	2	0	CLSTN2	141606092	1.000000	0.71417	0.989000	0.46669	0.986000	0.74619	7.711000	0.84669	2.584000	0.87258	0.563000	0.77884	GCC		0.547	CLSTN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359393.3	NM_022131		21	91	0	0	0	0.592651	0	21	91					T	140123402	C	T	140123402	3	4	62	1	0	0	0	0	1	0	0	0	3562	739	26	3	445	3	CLSTN2	3	140123402	Missense_Mutation	SNP	C	TCGA-EJ-5514-01A-01D-1576-08		140123402	57899028	10	3157											
IGF2BP2	10644	broad.mit.edu	37	chr3	185542687	185542687	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcttcctgtccccaaagagcTgccggaggtcgtcggcggtg	5	8	15	13	4	0	1	0	0	0	1	4	2	2	2	4	4	2	2	4	4	1	1			TCGA-EJ-5514-01A-01D-1576-08	TCGA-EJ-5514-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f28f091d-5cd5-447f-b956-3ef7eb305fe2	7b498228-7d17-4b2e-b815-123ebfe1f366	g.chr3:185542687T>C	ENST00000382199.2	-	1	157	c.62A>G	c.(61-63)cAg>cGg	p.Q21R	IGF2BP2_ENST00000457616.2_Missense_Mutation_p.Q21R|IGF2BP2_ENST00000346192.3_Missense_Mutation_p.Q21R	NM_006548.4	NP_006539.3	Q9Y6M1	IF2B2_HUMAN	insulin-like growth factor 2 mRNA binding protein 2	21	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				anatomical structure morphogenesis (GO:0009653)|gene expression (GO:0010467)|mRNA transport (GO:0051028)|negative regulation of translation (GO:0017148)|regulation of cytokine biosynthetic process (GO:0042035)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nucleus (GO:0005634)	mRNA 3'-UTR binding (GO:0003730)|mRNA 5'-UTR binding (GO:0048027)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|translation regulator activity (GO:0045182)	p.Q21R(1)		breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3)	20	all_cancers(143;5.84e-11)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(80;7.41e-21)			CCCAAAGAGCTGCCGGAGGTC	0.682																																						ENST00000382199.2																			1	Substitution - Missense(1)	p.Q21R(1)	prostate(1)	breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3)	20						c.(61-63)cAg>cGg		insulin-like growth factor 2 mRNA binding protein 2							23	26	25					3																	185542687		2202	4299	6501	SO:0001583	missense	10644				anatomical structure morphogenesis|negative regulation of translation	cytoskeletal part|cytosol|nucleus	mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity	g.chr3:185542687T>C	BC021290	CCDS3273.2, CCDS33903.1	3q27.2	2013-02-12			ENSG00000073792	ENSG00000073792		"RNA binding motif (RRM) containing"	28867	protein-coding gene	gene with protein product	"IGF II mRNA binding protein 2"	608289				10190901, 9891060	Standard	NM_001007225		Approved	IMP-2	uc003fpo.3	Q9Y6M1	OTTHUMG00000074025	ENST00000382199.2:c.62A>G	3.37:g.185542687T>C	ENSP00000371634:p.Gln21Arg					IGF2BP2_ENST00000346192.3_Missense_Mutation_p.Q21R|IGF2BP2_ENST00000457616.2_Missense_Mutation_p.Q21R	p.Q21R	NM_006548.4	NP_006539.3	Q9Y6M1	IF2B2_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;7.41e-21)		1	157	-	all_cancers(143;5.84e-11)|Ovarian(172;0.0386)		21			RRM 1.		A0A4Z0|B3FTN2|B3FTN3|B3FTN4	Missense_Mutation	SNP	ENST00000382199.2	37	c.62A>G	CCDS3273.2	.	.	.	.	.	.	.	.	.	.	T	11.86	1.763597	0.31228	.	.	ENSG00000073792	ENST00000382199;ENST00000457616;ENST00000346192	T;T;T	0.17213	2.29;2.29;2.29	2.33	2.33	0.28932	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.105285	0.37715	U	0.001973	T	0.08088	0.0202	N	0.16066	0.365	0.80722	D	1	B;B;B	0.16603	0.008;0.018;0.009	B;B;B	0.22152	0.022;0.015;0.038	T	0.22034	-1.0228	10	0.20046	T	0.44	-4.6004	5.1301	0.14905	0.0:0.153:0.0:0.847	.	21;21;21	F8W930;Q9Y6M1-1;Q9Y6M1	.;.;IF2B2_HUMAN	R	21	ENSP00000371634:Q21R;ENSP00000410242:Q21R;ENSP00000320204:Q21R	ENSP00000320204:Q21R	Q	-	2	0	IGF2BP2	187025381	0.899000	0.30636	1.000000	0.80357	0.990000	0.78478	1.987000	0.40687	1.071000	0.40834	0.323000	0.21402	CAG		0.682	IGF2BP2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000157087.2	NM_006548		3	14	0	0	0	0.248553	0	3	14					C	185542687	T	C	185542687	3	2	62	1	0	0	0	0	1	0	0	0	7574	1580	55	4	1801	4	IGF2BP2	3	185542687	Missense_Mutation	SNP	T	TCGA-EJ-5514-01A-01D-1576-08	45419285	185542687	12479743	11	3158											
SLC2A9	56606	broad.mit.edu	37	chr4	9828095	9828095	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tggtgggtatgctttgttccTtttggaaaatgcctggctga	6	16	13	6	0	0	1	0	1	0	0	1	2	1	2	2	4	2	4	2	4	3	5			TCGA-EJ-5514-01A-01D-1576-08	TCGA-EJ-5514-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f28f091d-5cd5-447f-b956-3ef7eb305fe2	7b498228-7d17-4b2e-b815-123ebfe1f366	g.chr4:9828095T>G	ENST00000264784.3	-	12	1602	c.1549A>C	c.(1549-1551)Agg>Cgg	p.R517R	SLC2A9_ENST00000309065.3_Silent_p.R488R|SLC2A9_ENST00000506583.1_Silent_p.R488R	NM_020041.2	NP_064425.2	Q9NRM0	GTR9_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 9	517					glucose transport (GO:0015758)|proton transport (GO:0015992)|transmembrane transport (GO:0055085)|urate metabolic process (GO:0046415)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)	glucose transmembrane transporter activity (GO:0005355)|sugar:proton symporter activity (GO:0005351)	p.R488R(1)|p.R517R(1)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(1)	35					Losartan(DB00678)|Probenecid(DB01032)	GCTTTGTTCCTTTTGGAAAAT	0.428																																						ENST00000506583.1																			2	Substitution - coding silent(2)	p.R488R(1)|p.R517R(1)	prostate(2)	NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(1)	35						c.(1462-1464)Agg>Cgg		solute carrier family 2 (facilitated glucose transporter), member 9							174	161	166					4																	9828095		2203	4300	6503	SO:0001819	synonymous_variant	56606				glucose transport|urate metabolic process	integral to membrane|plasma membrane	sugar:hydrogen symporter activity	g.chr4:9828095T>G	AF210317	CCDS3406.1, CCDS3407.1	4p16.1	2013-05-22			ENSG00000109667	ENSG00000109667		"Solute carriers"	13446	protein-coding gene	gene with protein product	"urate voltage-driven efflux transporter 1"	606142				10860667, 17710649	Standard	NM_020041		Approved	Glut9, GLUTX, URATv1	uc003gmc.3	Q9NRM0	OTTHUMG00000044263	ENST00000264784.3:c.1549A>C	4.37:g.9828095T>G						SLC2A9_ENST00000264784.3_Silent_p.R517R|SLC2A9_ENST00000309065.3_Silent_p.R488R	p.R488R			Q9NRM0	GTR9_HUMAN			14	1679	-			517					Q0VGC4|Q4W5D1|Q8WV30|Q96P00	Silent	SNP	ENST00000264784.3	37	c.1462A>C	CCDS3407.1																																																																																				0.428	SLC2A9-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207055.1			6	316	0	0	0	0.27861	0	6	316					G	9828095	T	G	9828095	2	3	62	1	0	0	0	0	0	0	0	1	14552	1608	56	5		5	SLC2A9	4	9828095	Silent	SNP	T	TCGA-EJ-5514-01A-01D-1576-08		9828095	181326181	12	3159											
ANKRD17	26057	broad.mit.edu	37	chr4	74043162	74043162	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctactgtcctgaggtctgcaCcatcagcagtacctgataag	10	10	9	12	0	2	2	1	2	1	0	3	2	3	2	3	1	4	3	3	1	3	3			TCGA-EJ-5514-01A-01D-1576-08	TCGA-EJ-5514-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f28f091d-5cd5-447f-b956-3ef7eb305fe2	7b498228-7d17-4b2e-b815-123ebfe1f366	g.chr4:74043162C>A	ENST00000358602.4	-	2	598	c.482G>T	c.(481-483)gGt>gTt	p.G161V	ANKRD17_ENST00000509867.2_Missense_Mutation_p.G48V|ANKRD17_ENST00000330838.6_Missense_Mutation_p.G161V	NM_032217.3	NP_115593.3	O75179	ANR17_HUMAN	ankyrin repeat domain 17	161					blood vessel maturation (GO:0001955)|negative regulation of smooth muscle cell differentiation (GO:0051151)|viral process (GO:0016032)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.G161V(2)		NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)	96	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			GAGGTCTGCACCATCAGCAGT	0.413																																						ENST00000358602.4																			2	Substitution - Missense(2)	p.G161V(2)	prostate(2)	NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)	96						c.(481-483)gGt>gTt		ankyrin repeat domain 17							119	108	112					4																	74043162		2203	4300	6503	SO:0001583	missense	26057				interspecies interaction between organisms	cytoplasm|nucleus	RNA binding	g.chr4:74043162C>A	AB014597	CCDS34003.1, CCDS34004.1, CCDS68721.1	4q21.1-q21.21	2013-01-10			ENSG00000132466	ENSG00000132466		"Ankyrin repeat domain containing"	23575	protein-coding gene	gene with protein product		615929				11165478	Standard	NM_032217		Approved	GTAR, KIAA0697, FLJ22206, NY-BR-16	uc003hgp.3	O75179	OTTHUMG00000160826	ENST00000358602.4:c.482G>T	4.37:g.74043162C>A	ENSP00000351416:p.Gly161Val					ANKRD17_ENST00000330838.6_Missense_Mutation_p.G161V|ANKRD17_ENST00000509867.2_Missense_Mutation_p.G48V	p.G161V	NM_032217.3	NP_115593.3	O75179	ANR17_HUMAN	Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		2	598	-	Breast(15;0.000295)		161					E7EUV3|G5E964|Q6PJ85|Q6PK85|Q6PKA2|Q86XI3|Q8NDR5|Q96I86|Q9H288|Q9H6J9	Missense_Mutation	SNP	ENST00000358602.4	37	c.482G>T	CCDS34004.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.983771	0.74474	.	.	ENSG00000132466	ENST00000358602;ENST00000426990;ENST00000330838;ENST00000509867;ENST00000411811	D;D;T	0.81499	-1.5;-1.5;-0.34	5.39	5.39	0.77823	.	0.000000	0.64402	D	0.000004	D	0.85639	0.5743	L	0.40543	1.245	0.80722	D	1	B;D;B;B	0.61697	0.04;0.99;0.11;0.242	B;D;B;B	0.63957	0.06;0.92;0.092;0.092	D	0.87013	0.2124	10	0.87932	D	0	.	19.1512	0.93488	0.0:1.0:0.0:0.0	.	161;161;161;48	O75179-2;G5E964;O75179;E7EUV3	.;.;ANR17_HUMAN;.	V	161;161;161;48;161	ENSP00000351416:G161V;ENSP00000332265:G161V;ENSP00000427151:G48V	ENSP00000332265:G161V	G	-	2	0	ANKRD17	74262026	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.513000	0.84729	0.591000	0.81541	GGT		0.413	ANKRD17-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000362475.1	NM_032217		8	231	1	0	7.48243e-07	0.335167	9.1311e-07	8	231					A	74043162	C	A	74043162	3	1	62	1	0	0	0	0	1	0	0	0	646	507	18	5	7461	5	ANKRD17	4	74043162	Missense_Mutation	SNP	C	TCGA-EJ-5514-01A-01D-1576-08	64215067	74043162	117111114	13	3160											
MMRN1	22915	broad.mit.edu	37	chr4	90872798	90872798	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gcatccgtgccaaaatggggGcacgtgcataaatggaagaa	14	6	13	8	2	0	1	0	0	0	1	1	2	1	2	2	3	2	3	2	3	6	1			TCGA-EJ-5514-01A-01D-1576-08	TCGA-EJ-5514-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f28f091d-5cd5-447f-b956-3ef7eb305fe2	7b498228-7d17-4b2e-b815-123ebfe1f366	g.chr4:90872798G>C	ENST00000394980.1	+	8	3480	c.3161G>C	c.(3160-3162)gGc>gCc	p.G1054A	MMRN1_ENST00000508372.1_Missense_Mutation_p.G796A|MMRN1_ENST00000394981.1_Missense_Mutation_p.G357A|MMRN1_ENST00000264790.2_Missense_Mutation_p.G1054A			Q13201	MMRN1_HUMAN	multimerin 1	1054	EGF-like. {ECO:0000255|PROSITE- ProRule:PRU00076}.				blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|platelet alpha granule lumen (GO:0031093)		p.G1054A(1)		breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|liver(2)|lung(34)|ovary(5)|prostate(1)|skin(6)|stomach(1)|urinary_tract(2)	72		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)		CAAAATGGGGGCACGTGCATA	0.423																																						ENST00000394980.1																			1	Substitution - Missense(1)	p.G1054A(1)	prostate(1)	breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|liver(2)|lung(34)|ovary(5)|prostate(1)|skin(6)|stomach(1)|urinary_tract(2)	72						c.(3160-3162)gGc>gCc		multimerin 1							105	89	94					4																	90872798		2203	4300	6503	SO:0001583	missense	22915				cell adhesion|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen		g.chr4:90872798G>C	U27109	CCDS3635.1	4q22	2008-02-05	2004-03-02	2004-03-02	ENSG00000138722	ENSG00000138722		"EMI domain containing"	7178	protein-coding gene	gene with protein product	"glycoprotein Ia*"	601456	"multimerin"	MMRN		7629143, 10828608	Standard	NM_007351		Approved	ECM, EMILIN4, GPIa*	uc003hst.3	Q13201	OTTHUMG00000130947	ENST00000394980.1:c.3161G>C	4.37:g.90872798G>C	ENSP00000378431:p.Gly1054Ala					MMRN1_ENST00000508372.1_Missense_Mutation_p.G796A|MMRN1_ENST00000264790.2_Missense_Mutation_p.G1054A|MMRN1_ENST00000394981.1_Missense_Mutation_p.G357A	p.G1054A			Q13201	MMRN1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)	8	3480	+		Hepatocellular(203;0.114)	1054			EGF-like.		Q4W5L1|Q6P3T8|Q6ZUL9	Missense_Mutation	SNP	ENST00000394980.1	37	c.3161G>C	CCDS3635.1	.	.	.	.	.	.	.	.	.	.	G	15.98	2.992139	0.54041	.	.	ENSG00000138722	ENST00000394980;ENST00000264790;ENST00000394981;ENST00000508372	D;D;D;D	0.96300	-3.97;-3.97;-3.97;-3.97	4.88	4.88	0.63580	Concanavalin A-like lectin/glucanase, subgroup (1);EGF (1);Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.64402	D	0.000001	D	0.97393	0.9147	L	0.50919	1.6	0.39208	D	0.963265	D;D	0.89917	1.0;1.0	D;D	0.97110	0.996;1.0	D	0.98604	1.0660	10	0.62326	D	0.03	.	18.9289	0.92556	0.0:0.0:1.0:0.0	.	357;1054	Q13201-2;Q13201	.;MMRN1_HUMAN	A	1054;1054;357;796	ENSP00000378431:G1054A;ENSP00000264790:G1054A;ENSP00000378432:G357A;ENSP00000426461:G796A	ENSP00000264790:G1054A	G	+	2	0	MMRN1	91091821	1.000000	0.71417	1.000000	0.80357	0.086000	0.17979	6.183000	0.72002	2.636000	0.89361	0.591000	0.81541	GGC		0.423	MMRN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253546.2	NM_007351		31	81	0	0	0	0.717897	0	31	81					C	90872798	G	C	90872798	3	2	62	1	0	0	0	0	1	0	0	0	9670	1203	42	5	3187	5	MMRN1	4	90872798	Missense_Mutation	SNP	G	TCGA-EJ-5514-01A-01D-1576-08	16829636	90872798	100281478	14	3161											
IRF2	3660	broad.mit.edu	37	chr4	185340707	185340707	+	Frame_Shift_Del	DEL	G	G	-																															cgcatgcatccaggggatctGaaaaatcttcttttcctgaa																										TCGA-EJ-5514-01A-01D-1576-08	TCGA-EJ-5514-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f28f091d-5cd5-447f-b956-3ef7eb305fe2	7b498228-7d17-4b2e-b815-123ebfe1f366	g.chr4:185340707delG	ENST00000393593.3	-	3	310	c.103delC	c.(103-105)cagfs	p.Q35fs	IRF2_ENST00000512020.1_5'UTR	NM_002199.3	NP_002190.2	P14316	IRF2_HUMAN	interferon regulatory factor 2	35					blood coagulation (GO:0007596)|cell proliferation (GO:0008283)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|type I interferon signaling pathway (GO:0060337)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|regulatory region DNA binding (GO:0000975)|sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|ovary(2)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	22		all_lung(41;7.86e-14)|Lung NSC(41;1.87e-13)|Colorectal(36;0.00146)|Hepatocellular(41;0.00826)|Renal(120;0.00992)|Prostate(90;0.0115)|all_neural(102;0.0573)|all_hematologic(60;0.0592)		all cancers(43;3.94e-27)|Epithelial(43;5.3e-24)|OV - Ovarian serous cystadenocarcinoma(60;1.06e-10)|Colorectal(24;7.98e-07)|STAD - Stomach adenocarcinoma(60;3.95e-05)|GBM - Glioblastoma multiforme(59;8.3e-05)|COAD - Colon adenocarcinoma(29;0.000106)|BRCA - Breast invasive adenocarcinoma(30;0.000311)|LUSC - Lung squamous cell carcinoma(40;0.0128)|READ - Rectum adenocarcinoma(43;0.0419)		CAGGGGATCTGAAAAATCTTC	0.423																																						ENST00000393593.3																			0				cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|ovary(2)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	22						c.(103-105)agfs		interferon regulatory factor 2							71	74	73					4																	185340707		2203	4300	6503	SO:0001589	frameshift_variant	3660				blood coagulation|cell proliferation|interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	focal adhesion|nucleoplasm	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr4:185340707delG		CCDS3835.1	4q34.1-q35.1	2008-07-29				ENSG00000168310			6117	protein-coding gene	gene with protein product		147576				2475256	Standard	NM_002199		Approved		uc003iwf.4	P14316		ENST00000393593.3:c.103delC	4.37:g.185340707delG	ENSP00000377218:p.Gln35fs					IRF2_ENST00000512020.1_5'UTR	p.Q35fs	NM_002199.3	NP_002190.2	P14316	IRF2_HUMAN		all cancers(43;3.94e-27)|Epithelial(43;5.3e-24)|OV - Ovarian serous cystadenocarcinoma(60;1.06e-10)|Colorectal(24;7.98e-07)|STAD - Stomach adenocarcinoma(60;3.95e-05)|GBM - Glioblastoma multiforme(59;8.3e-05)|COAD - Colon adenocarcinoma(29;0.000106)|BRCA - Breast invasive adenocarcinoma(30;0.000311)|LUSC - Lung squamous cell carcinoma(40;0.0128)|READ - Rectum adenocarcinoma(43;0.0419)	3	310	-		all_lung(41;7.86e-14)|Lung NSC(41;1.87e-13)|Colorectal(36;0.00146)|Hepatocellular(41;0.00826)|Renal(120;0.00992)|Prostate(90;0.0115)|all_neural(102;0.0573)|all_hematologic(60;0.0592)	35					D6RCK5|H0Y8S3|Q6IAS7|Q96B99	Frame_Shift_Del	DEL	ENST00000393593.3	37	c.103delC	CCDS3835.1																																																																																				0.423	IRF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361393.1			24	73						24	73	---	---	---	---	-	185340707	G	-	185340707	7	5	62	1	0	1	0	1	0	0	0	0	7828	1299	45	0	974	0	IRF2	4	185340707	Frame_Shift_Del	DEL	G	TCGA-EJ-5514-01A-01D-1576-08	94467909	185340707	5813569	15	3162											
CMYA5	202333	broad.mit.edu	37	chr5	79026181	79026181	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aatttagtagaagaagagatCgtagaacttgattacccaga	17	10	9	5	1	0	6	0	1	0	5	1	7	0	6	1	0	2	2	1	0	8	6			TCGA-EJ-5514-01A-01D-1576-08	TCGA-EJ-5514-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f28f091d-5cd5-447f-b956-3ef7eb305fe2	7b498228-7d17-4b2e-b815-123ebfe1f366	g.chr5:79026181C>T	ENST00000446378.2	+	2	1624	c.1593C>T	c.(1591-1593)atC>atT	p.I531I		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	531	Glu-rich.				negative regulation of calcineurin-NFAT signaling cascade (GO:0070885)|negative regulation of protein phosphatase type 2B activity (GO:0032513)|regulation of skeletal muscle adaptation (GO:0014733)	costamere (GO:0043034)		p.I531I(2)		NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		AAGAAGAGATCGTAGAACTTG	0.418																																						ENST00000446378.2																			2	Substitution - coding silent(2)	p.I531I(2)	prostate(2)	NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128						c.(1591-1593)atC>atT		cardiomyopathy associated 5							108	104	105					5																	79026181		1859	4097	5956	SO:0001819	synonymous_variant	202333					perinuclear region of cytoplasm		g.chr5:79026181C>T	AW755254, AL831986	CCDS47238.1	5q14.1	2013-02-11			ENSG00000164309	ENSG00000164309		"Tripartite motif containing / Tripartite motif containing", "A-kinase anchor proteins", "Fibronectin type III domain containing"	14305	protein-coding gene	gene with protein product	"genethonin-3", "tripartite motif-containing 76"	612193	"chromosome 5 open reading frame 10"	C5orf10		14688250	Standard	NM_153610		Approved	myospryn, SPRYD2, DKFZp451G223, TRIM76	uc003kgc.3	Q8N3K9	OTTHUMG00000162548	ENST00000446378.2:c.1593C>T	5.37:g.79026181C>T							p.I531I	NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)	2	1624	+		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)	531			Glu-rich.		A0PJB7|Q05CT4|Q2NKX1|Q2T9G9|Q69YQ8|Q69YQ9|Q6P517|Q6P5U3|Q7Z4I1|Q86T34|Q86T49|Q8N3S4|Q8N3S7|Q8NAG8|Q9UK88	Silent	SNP	ENST00000446378.2	37	c.1593C>T	CCDS47238.1																																																																																				0.418	CMYA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369497.1	NM_153610		83	156	0	0	0	0.870114	0	83	156					T	79026181	C	T	79026181	2	4	62	1	0	0	0	0	0	0	0	1	3590	874	31	2		2	CMYA5	5	79026181	Silent	SNP	C	TCGA-EJ-5514-01A-01D-1576-08		79026181	101889079	16	3163											
VCAN	1462	broad.mit.edu	37	chr5	82808055	82808055	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aggaacggctttgaccagtgCgattacgggtggctgtcgga	8	9	16	8	4	0	1	0	1	0	0	1	4	0	3	1	5	3	2	1	5	2	2			TCGA-EJ-5514-01A-01D-1576-08	TCGA-EJ-5514-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f28f091d-5cd5-447f-b956-3ef7eb305fe2	7b498228-7d17-4b2e-b815-123ebfe1f366	g.chr5:82808055C>T	ENST00000265077.3	+	6	1447	c.882C>T	c.(880-882)tgC>tgT	p.C294C	VCAN_ENST00000512590.2_Silent_p.C246C|VCAN_ENST00000343200.5_Silent_p.C294C|VCAN_ENST00000502527.2_Silent_p.C294C|VCAN_ENST00000513984.1_Silent_p.C294C|VCAN_ENST00000342785.4_Silent_p.C294C	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	294	Link 2. {ECO:0000255|PROSITE- ProRule:PRU00323}.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|cell recognition (GO:0008037)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|heart development (GO:0007507)|multicellular organismal development (GO:0007275)|osteoblast differentiation (GO:0001649)|small molecule metabolic process (GO:0044281)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|glycosaminoglycan binding (GO:0005539)|hyaluronic acid binding (GO:0005540)	p.C294C(2)		NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	Hyaluronan(DB08818)	TTGACCAGTGCGATTACGGGT	0.602																																						ENST00000265077.3																			2	Substitution - coding silent(2)	p.C294C(2)	prostate(2)	NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190						c.(880-882)tgC>tgT		versican							80	69	73					5																	82808055		2203	4300	6503	SO:0001819	synonymous_variant	1462				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding	g.chr5:82808055C>T	X15998	CCDS4060.1, CCDS47242.1, CCDS54875.1, CCDS54876.1	5q14.2-q14.3	2013-05-07	2007-02-15	2007-02-15	ENSG00000038427	ENSG00000038427		"Immunoglobulin superfamily / V-set domain containing", "Proteoglycans / Extracellular Matrix : Hyalectans"	2464	protein-coding gene	gene with protein product	"versican proteoglycan"	118661	"chondroitin sulfate proteoglycan 2"	CSPG2		1478664, 21063030	Standard	NM_004385		Approved	PG-M	uc003kii.3	P13611	OTTHUMG00000131321	ENST00000265077.3:c.882C>T	5.37:g.82808055C>T						VCAN_ENST00000502527.2_Silent_p.C294C|VCAN_ENST00000512590.2_Silent_p.C246C|VCAN_ENST00000342785.4_Silent_p.C294C|VCAN_ENST00000513984.1_Silent_p.C294C|VCAN_ENST00000343200.5_Silent_p.C294C	p.C294C	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	6	1447	+		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)	294			Link 2.		P20754|Q13010|Q13189|Q15123|Q9UCL9|Q9UNW5	Silent	SNP	ENST00000265077.3	37	c.882C>T	CCDS4060.1																																																																																				0.602	VCAN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254092.3	NM_004385		9	81	0	0	0	0.361761	0	9	81					T	82808055	C	T	82808055	2	4	62	1	0	0	0	0	0	0	0	1	17135	776	27	1		1	VCAN	5	82808055	Silent	SNP	C	TCGA-EJ-5514-01A-01D-1576-08	3781874	82808055	98107205	17	3164											
PCDHA10	56139	broad.mit.edu	37	chr5	140237390	140237390	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggtgctgcggtcggtggttgCgggtcacgtggtggctaagg	3	10	21	7	4	1	0	1	0	0	0	2	0	1	0	0	8	3	3	0	8	1	2			TCGA-EJ-5514-01A-01D-1576-08	TCGA-EJ-5514-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f28f091d-5cd5-447f-b956-3ef7eb305fe2	7b498228-7d17-4b2e-b815-123ebfe1f366	g.chr5:140237390C>T	ENST00000307360.5	+	1	1757	c.1757C>T	c.(1756-1758)gCg>gTg	p.A586V	PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA4_ENST00000512229.2_Intron	NM_018901.2	NP_061724.1	Q9Y5I2	PCDAA_HUMAN	protocadherin alpha 10	586					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.A586V(2)		NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	79			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCGGTGGTTGCGGGTCACGTG	0.657																																						ENST00000307360.5																			2	Substitution - Missense(2)	p.A586V(2)	prostate(1)|kidney(1)	NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	79						c.(1756-1758)gCg>gTg									89	84	86					5																	140237390		1322	2291	3613	SO:0001583	missense	0							g.chr5:140237390C>T	AF152475	CCDS34255.1, CCDS54921.1, CCDS75325.1	5q31	2010-11-26			ENSG00000250120	ENSG00000250120		"Cadherins / Protocadherins : Clustered"	8664	other	complex locus constituent	"KIAA0345-like 4", "ortholog to mouse CNR8"	606316		CNRS8		10380929	Standard	NM_018901		Approved	CNR8, CRNR8, CNRN8, PCDH-ALPHA10		Q9Y5I2	OTTHUMG00000163372	ENST00000307360.5:c.1757C>T	5.37:g.140237390C>T	ENSP00000304234:p.Ala586Val					PCDHA8_ENST00000531613.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron	p.A586V	NM_018901.2|NM_031859.1	NP_061724.1|NP_114065.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1757	+								A1L493|O75280|Q9NRU2	Missense_Mutation	SNP	ENST00000307360.5	37	c.1757C>T	CCDS54921.1	.	.	.	.	.	.	.	.	.	.	C	5.880	0.346446	0.11126	.	.	ENSG00000250120	ENST00000307360	T	0.36520	1.25	3.68	2.8	0.32819	Cadherin (2);Cadherin-like (1);	.	.	.	.	T	0.23688	0.0573	N	0.22421	0.69	0.09310	N	1	B;B	0.28026	0.198;0.057	B;B	0.18263	0.018;0.021	T	0.09574	-1.0668	9	0.37606	T	0.19	.	11.8505	0.52410	0.0:0.9077:0.0:0.0923	.	586;586	Q9Y5I2-3;Q9Y5I2	.;PCDAA_HUMAN	V	586	ENSP00000304234:A586V	ENSP00000304234:A586V	A	+	2	0	PCDHA10	140217574	0.000000	0.05858	0.037000	0.18230	0.001000	0.01503	0.773000	0.26661	2.041000	0.60428	0.491000	0.48974	GCG		0.657	PCDHA10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372895.2	NM_018901		13	28	0	0	0	0.479597	0	13	28					T	140237390	C	T	140237390	3	4	62	1	0	0	0	0	1	0	0	0	11520	768	27	1	1759	1	PCDHA10	5	140237390	Missense_Mutation	SNP	C	TCGA-EJ-5514-01A-01D-1576-08	57429335	140237390	40677870	18	3165											
ITK	3702	broad.mit.edu	37	chr5	156670752	156670752	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aggtggctatcaaaaccattCgggaaggggctatgtcagaa	13	8	13	7	1	2	1	2	0	0	1	3	2	2	2	1	5	1	2	1	5	6	3	rs202119873		TCGA-EJ-5514-01A-01D-1576-08	TCGA-EJ-5514-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f28f091d-5cd5-447f-b956-3ef7eb305fe2	7b498228-7d17-4b2e-b815-123ebfe1f366	g.chr5:156670752C>T	ENST00000422843.3	+	12	1332	c.1180C>T	c.(1180-1182)Cgg>Tgg	p.R394W	ITK_ENST00000519749.1_3'UTR	NM_005546.3	NP_005537.3	Q08881	ITK_HUMAN	IL2-inducible T-cell kinase	394	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of phospholipase C activity (GO:0007202)|adaptive immune response (GO:0002250)|cellular defense response (GO:0006968)|cytokine production (GO:0001816)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|interferon-gamma production (GO:0032609)|interleukin-4 production (GO:0032633)|intracellular signal transduction (GO:0035556)|NK T cell differentiation (GO:0001865)|peptidyl-tyrosine phosphorylation (GO:0018108)|signal transduction (GO:0007165)|T cell activation (GO:0042110)|T cell receptor signaling pathway (GO:0050852)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)	p.R394W(2)		breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(25)|ovary(8)|prostate(2)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	70	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.1)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		Pazopanib(DB06589)	CAAAACCATTCGGGAAGGGGC	0.498			T	SYK	peripheral T-cell lymphoma																																Esophageal Squamous(70;1378 1469 8785 19883)	ENST00000422843.3				Dom	yes		5	5q31-q32	3702	T	IL2-inducible T-cell kinase			L	SYK		peripheral T-cell lymphoma		2	Substitution - Missense(2)	p.R394W(2)	prostate(2)	breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(25)|ovary(8)|prostate(2)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	70						c.(1180-1182)Cgg>Tgg		IL2-inducible T-cell kinase							174	166	169					5																	156670752		2203	4300	6503	SO:0001583	missense	3702				cellular defense response|intracellular signal transduction|T cell receptor signaling pathway	cytosol|plasma membrane	ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding	g.chr5:156670752C>T	D13720	CCDS4336.1	5q31-q32	2014-09-17			ENSG00000113263	ENSG00000113263		"Pleckstrin homology (PH) domain containing", "SH2 domain containing"	6171	protein-coding gene	gene with protein product		186973				8364206	Standard	NM_005546		Approved	EMT, PSCTK2, LYK	uc003lwo.1	Q08881	OTTHUMG00000130245	ENST00000422843.3:c.1180C>T	5.37:g.156670752C>T	ENSP00000398655:p.Arg394Trp					ITK_ENST00000519749.1_3'UTR	p.R394W	NM_005546.3	NP_005537.3	Q08881	ITK_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		12	1332	+	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.1)	394			Protein kinase.		B2R752|Q32ML7	Missense_Mutation	SNP	ENST00000422843.3	37	c.1180C>T	CCDS4336.1	.	.	.	.	.	.	.	.	.	.	C	26.2	4.715711	0.89112	.	.	ENSG00000113263	ENST00000422843	D	0.83419	-1.72	5.64	5.64	0.86602	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.327694	0.33515	N	0.004830	D	0.91730	0.7385	M	0.84846	2.72	0.42460	D	0.992785	D	0.71674	0.998	D	0.63192	0.912	D	0.92700	0.6174	10	0.87932	D	0	.	19.7037	0.96065	0.0:1.0:0.0:0.0	.	394	Q08881	ITK_HUMAN	W	394	ENSP00000398655:R394W	ENSP00000398655:R394W	R	+	1	2	ITK	156603330	0.951000	0.32395	0.983000	0.44433	0.990000	0.78478	4.389000	0.59639	2.655000	0.90218	0.655000	0.94253	CGG		0.498	ITK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252569.2			65	126	0	0	0	0.870114	0	65	126					T	156670752	C	T	156670752	3	4	62	1	0	0	0	0	1	0	0	0	7909	875	31	2	1226	2	ITK	5	156670752	Missense_Mutation	SNP	C	TCGA-EJ-5514-01A-01D-1576-08	16433362	156670752	24244508	19	3166											
RIOK1	83732	broad.mit.edu	37	chr6	7405482	7405482	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacgtttttccttctgacagAtttctttatgaggcacagtg	9	16	8	8	1	2	3	0	2	2	1	3	3	3	3	1	1	1	2	1	1	2	6			TCGA-EJ-5514-01A-01D-1576-08	TCGA-EJ-5514-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f28f091d-5cd5-447f-b956-3ef7eb305fe2	7b498228-7d17-4b2e-b815-123ebfe1f366	g.chr6:7405482A>G	ENST00000379834.2	+	12	1604	c.1097A>G	c.(1096-1098)gAt>gGt	p.D366G		NM_031480.2|NM_153005.1	NP_113668.2|NP_694550.1	Q9BRS2	RIOK1_HUMAN	RIO kinase 1	366	Protein kinase.						ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.D359G(1)|p.D366G(1)		cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	19	Ovarian(93;0.0418)					CTTCTGACAGATTTCTTTATG	0.363																																						ENST00000379834.2																			2	Substitution - Missense(2)	p.D359G(1)|p.D366G(1)	prostate(2)	cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	19						c.e12-1		RIO kinase 1							79	72	74					6																	7405482		2203	4300	6503	SO:0001630	splice_region_variant	83732						ATP binding|protein serine/threonine kinase activity	g.chr6:7405482A>G	BC006104	CCDS4500.1	6p24.3	2012-12-10	2012-12-10		ENSG00000124784	ENSG00000124784			18656	protein-coding gene	gene with protein product			"RIO kinase 1 (yeast)"				Standard	NM_031480		Approved	AD034, FLJ30006, bA288G3.1, RRP10	uc003mxn.3	Q9BRS2	OTTHUMG00000014207	ENST00000379834.2:c.1097-1A>G	6.37:g.7405482A>G							p.D366_splice	NM_031480.2|NM_153005.1	NP_113668.2|NP_694550.1	Q9BRS2	RIOK1_HUMAN			12	1604	+	Ovarian(93;0.0418)		366			Protein kinase.		B2RB28|Q8NDC8|Q96NV9	Splice_Site	SNP	ENST00000379834.2	37	c.1096_splice	CCDS4500.1	.	.	.	.	.	.	.	.	.	.	A	12.03	1.815451	0.32145	.	.	ENSG00000124784	ENST00000379834	T	0.06849	3.25	5.37	4.18	0.49190	RIO kinase (1);Protein kinase-like domain (1);RIO-like kinase (1);	0.144148	0.64402	D	0.000009	T	0.03783	0.0107	L	0.60012	1.86	0.58432	D	0.999998	B	0.18863	0.031	B	0.23852	0.049	T	0.20840	-1.0263	9	.	.	.	.	9.5185	0.39120	0.8501:0.0:0.1499:0.0	.	366	Q9BRS2	RIOK1_HUMAN	G	366	ENSP00000369162:D366G	.	D	+	2	0	RIOK1	7350481	1.000000	0.71417	0.998000	0.56505	0.363000	0.29612	3.778000	0.55371	0.852000	0.35287	0.460000	0.39030	GAT		0.363	RIOK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039780.2	NM_031480	Missense_Mutation	32	79	0	0	0	0.750413	0	32	79					G	7405482	A	G	7405482	5	3	62	1	0	0	0	0	0	0	1	0	13377	347	12	4	1143	4	RIOK1	6	7405482	Splice_Site	SNP	A	TCGA-EJ-5514-01A-01D-1576-08		7405482	163709585	20	3167											
TRAF3IP2	10758	broad.mit.edu	37	chr6	111912533	111912533	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agcatgtggggaaagattggGaggcagcatctgtgcacatg	11	8	16	6	0	1	1	0	0	1	1	1	3	1	3	0	4	3	4	0	4	1	1			TCGA-EJ-5514-01A-01D-1576-08	TCGA-EJ-5514-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f28f091d-5cd5-447f-b956-3ef7eb305fe2	7b498228-7d17-4b2e-b815-123ebfe1f366	g.chr6:111912533G>T	ENST00000340026.6	-	3	1378	c.784C>A	c.(784-786)Ccc>Acc	p.P262T	TRAF3IP2-AS1_ENST00000532353.1_RNA|TRAF3IP2_ENST00000359831.4_Missense_Mutation_p.P253T|TRAF3IP2_ENST00000368761.5_Missense_Mutation_p.P253T|TRAF3IP2_ENST00000392556.4_5'UTR			O43734	CIKS_HUMAN	TRAF3 interacting protein 2	262					B cell apoptotic process (GO:0001783)|humoral immune response (GO:0006959)|immunoglobulin secretion (GO:0048305)|intracellular signal transduction (GO:0035556)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)			p.P253T(1)|p.P262T(1)		central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|urinary_tract(1)	18		all_cancers(87;7.87e-06)|Acute lymphoblastic leukemia(125;3.61e-09)|all_hematologic(75;2.63e-07)|all_epithelial(87;0.0024)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.033)|all cancers(137;0.0412)|Epithelial(106;0.0732)		GAAAGATTGGGAGGCAGCATC	0.537																																						ENST00000368761.5																			2	Substitution - Missense(2)	p.P253T(1)|p.P262T(1)	prostate(2)	central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|urinary_tract(1)	18						c.(757-759)Ccc>Acc		TRAF3 interacting protein 2							99	92	95					6																	111912533		2203	4300	6503	SO:0001583	missense	10758				intracellular signal transduction|positive regulation of I-kappaB kinase/NF-kappaB cascade	intracellular		g.chr6:111912533G>T	AF136405	CCDS5093.1, CCDS55049.1, CCDS55050.1	6q21	2008-09-05	2002-06-20	2005-04-13	ENSG00000056972	ENSG00000056972			1343	protein-coding gene	gene with protein product		607043	"chromosome 6 open reading frame 5", "chromosome 6 open reading frame 2"	C6orf4, C6orf5, C6orf6, C6orf2		10962033, 10962024	Standard	NR_028338		Approved	DKFZP586G0522, ACT1, CIKS	uc003pvf.4	O43734	OTTHUMG00000015379	ENST00000340026.6:c.784C>A	6.37:g.111912533G>T	ENSP00000345984:p.Pro262Thr					TRAF3IP2-AS1_ENST00000532353.1_RNA|TRAF3IP2_ENST00000359831.4_Missense_Mutation_p.P253T|TRAF3IP2_ENST00000392556.4_5'UTR|TRAF3IP2_ENST00000340026.6_Missense_Mutation_p.P262T	p.P253T	NM_001164281.2|NM_147686.3	NP_001157753.1|NP_679211.2	O43734	CIKS_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.033)|all cancers(137;0.0412)|Epithelial(106;0.0732)	2	1235	-		all_cancers(87;7.87e-06)|Acute lymphoblastic leukemia(125;3.61e-09)|all_hematologic(75;2.63e-07)|all_epithelial(87;0.0024)|Colorectal(196;0.021)	262					B2RAY9|E1P555|Q5R3A3|Q7Z6Q1|Q7Z6Q2|Q7Z6Q3|Q9H5W2|Q9H6Y3|Q9NS14|Q9UG72	Missense_Mutation	SNP	ENST00000340026.6	37	c.757C>A		.	.	.	.	.	.	.	.	.	.	G	10.72	1.430289	0.25726	.	.	ENSG00000056972	ENST00000392555;ENST00000368761;ENST00000340026;ENST00000359831	T;T;T	0.32753	1.45;1.44;1.44	5.84	4.05	0.47172	.	0.353536	0.28036	N	0.016855	T	0.18467	0.0443	M	0.61703	1.905	0.80722	D	1	B;B;B	0.26845	0.1;0.161;0.1	B;B;B	0.31495	0.062;0.131;0.062	T	0.03268	-1.1054	10	0.51188	T	0.08	0.4512	10.6512	0.45649	0.0698:0.1315:0.7988:0.0	.	262;253;253	O43734;O43734-2;Q7Z6Q1	CIKS_HUMAN;.;.	T	262;253;262;253	ENSP00000357750:P253T;ENSP00000345984:P262T;ENSP00000352889:P253T	ENSP00000345984:P262T	P	-	1	0	TRAF3IP2	112019226	0.993000	0.37304	0.561000	0.28357	0.398000	0.30690	2.914000	0.48797	0.797000	0.33971	-0.273000	0.10243	CCC		0.537	TRAF3IP2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000041841.2			31	48	1	0	4.66903e-05	0.750413	5.51098e-05	31	48					T	111912533	G	T	111912533	3	4	62	1	0	0	0	0	1	0	0	0	16438	1174	41	5	972	5	TRAF3IP2	6	111912533	Missense_Mutation	SNP	G	TCGA-EJ-5514-01A-01D-1576-08	104507051	111912533	59202534	21	3168											
NPC1L1	29881	broad.mit.edu	37	chr7	44561339	44561339	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gaggggcagaacttgtccttAttggggccagatatataaag	12	10	13	6	0	0	2	0	0	0	2	1	3	1	2	2	4	1	1	2	4	6	6			TCGA-EJ-5514-01A-01D-1576-08	TCGA-EJ-5514-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f28f091d-5cd5-447f-b956-3ef7eb305fe2	7b498228-7d17-4b2e-b815-123ebfe1f366	g.chr7:44561339A>C	ENST00000289547.4	-	12	2980	c.2925T>G	c.(2923-2925)aaT>aaG	p.N975K	NPC1L1_ENST00000381160.3_Missense_Mutation_p.N975K|NPC1L1_ENST00000546276.1_Missense_Mutation_p.N929K	NM_013389.2	NP_037521.2	Q9UHC9	NPCL1_HUMAN	NPC1-like 1	975					cholesterol biosynthetic process (GO:0006695)|cholesterol transport (GO:0030301)|intestinal cholesterol absorption (GO:0030299)|lipoprotein metabolic process (GO:0042157)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|sterol transport (GO:0015918)	brush border membrane (GO:0031526)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	drug binding (GO:0008144)|hedgehog receptor activity (GO:0008158)|myosin V binding (GO:0031489)|Rab GTPase binding (GO:0017137)	p.N975K(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	57					Ezetimibe(DB00973)	ACTTGTCCTTATTGGGGCCAG	0.577																																						ENST00000289547.4																			1	Substitution - Missense(1)	p.N975K(1)	prostate(1)	breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	57						c.(2923-2925)aaT>aaG		NPC1-like 1	Ezetimibe(DB00973)						78	77	77					7																	44561339		2203	4300	6503	SO:0001583	missense	29881				cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process	apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane	hedgehog receptor activity|protein binding	g.chr7:44561339A>C		CCDS5491.1, CCDS43575.1, CCDS75587.1	7p13	2012-11-15	2012-11-15		ENSG00000015520	ENSG00000015520			7898	protein-coding gene	gene with protein product		608010	"NPC1 (Niemann-Pick disease, type C1, gene)-like 1"			10783261	Standard	NM_013389		Approved		uc003tlb.3	Q9UHC9	OTTHUMG00000023691	ENST00000289547.4:c.2925T>G	7.37:g.44561339A>C	ENSP00000289547:p.Asn975Lys					NPC1L1_ENST00000381160.3_Missense_Mutation_p.N975K|NPC1L1_ENST00000546276.1_Missense_Mutation_p.N929K	p.N975K	NM_013389.2	NP_037521.2	Q9UHC9	NPCL1_HUMAN			12	2980	-			975					A4D2J7|B7ZLE6|D3DVK9|Q17RV5|Q6R3Q4|Q9UHC8	Missense_Mutation	SNP	ENST00000289547.4	37	c.2925T>G	CCDS5491.1	.	.	.	.	.	.	.	.	.	.	A	10.92	1.486841	0.26686	.	.	ENSG00000015520	ENST00000289547;ENST00000381160;ENST00000546276	D;D;D	0.93189	-3.07;-3.07;-3.18	5.49	-4.95	0.03048	.	0.128206	0.48767	D	0.000180	T	0.82263	0.4999	L	0.38838	1.175	0.21325	N	0.999727	B;B;P	0.36990	0.417;0.018;0.577	B;B;B	0.32864	0.093;0.017;0.154	T	0.78425	-0.2209	10	0.07990	T	0.79	-9.2902	7.8959	0.29706	0.2123:0.0:0.5473:0.2404	.	929;975;975	B7ZLE6;Q17RV5;D3DVK9	.;.;.	K	975;975;929	ENSP00000289547:N975K;ENSP00000370552:N975K;ENSP00000438033:N929K	ENSP00000289547:N975K	N	-	3	2	NPC1L1	44527864	0.001000	0.12720	0.011000	0.14972	0.026000	0.11368	-0.145000	0.10265	-0.401000	0.07644	0.533000	0.62120	AAT		0.577	NPC1L1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251256.1	NM_013389		3	110	0	0	0	0.150653	0	3	110					C	44561339	A	C	44561339	3	2	62	1	0	0	0	0	1	0	0	0	10571	446	16	5	1190	5	NPC1L1	7	44561339	Missense_Mutation	SNP	A	TCGA-EJ-5514-01A-01D-1576-08		44561339	114577324	22	3169											
SLC25A13	10165	broad.mit.edu	37	chr7	95750981	95750981	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acttacactcctccaaaatcAatgtagaaccatcgctgtag	14	10	5	12	1	1	1	1	0	0	1	4	1	3	1	3	0	2	3	3	0	7	3			TCGA-EJ-5514-01A-01D-1576-08	TCGA-EJ-5514-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f28f091d-5cd5-447f-b956-3ef7eb305fe2	7b498228-7d17-4b2e-b815-123ebfe1f366	g.chr7:95750981A>G	ENST00000265631.5	-	17	1963	c.1827T>C	c.(1825-1827)atT>atC	p.I609I	SLC25A13_ENST00000416240.2_Silent_p.I610I|SLC25A13_ENST00000494085.1_5'UTR|SLC25A13_ENST00000542654.1_Silent_p.I501I			Q9UJS0	CMC2_HUMAN	solute carrier family 25 (aspartate/glutamate carrier), member 13	609					aspartate transport (GO:0015810)|ATP biosynthetic process (GO:0006754)|carbohydrate metabolic process (GO:0005975)|cellular respiration (GO:0045333)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|L-glutamate transport (GO:0015813)|malate-aspartate shuttle (GO:0043490)|response to calcium ion (GO:0051592)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)|L-aspartate transmembrane transporter activity (GO:0015183)|L-glutamate transmembrane transporter activity (GO:0005313)|transporter activity (GO:0005215)	p.I609I(1)		breast(4)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(8)|liver(2)|lung(14)|prostate(1)|skin(4)	42	all_cancers(62;7.75e-08)|all_epithelial(64;1.16e-07)		STAD - Stomach adenocarcinoma(171;0.194)		L-Aspartic Acid(DB00128)	CTCCAAAATCAATGTAGAACC	0.413																																						ENST00000416240.2																			1	Substitution - coding silent(1)	p.I609I(1)	prostate(1)	breast(4)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(8)|liver(2)|lung(14)|prostate(1)|skin(4)	42						c.(1828-1830)atT>atC		solute carrier family 25 (aspartate/glutamate carrier), member 13	L-Aspartic Acid(DB00128)						159	159	159					7																	95750981		2203	4300	6503	SO:0001819	synonymous_variant	10165				ATP biosynthetic process|gluconeogenesis|malate-aspartate shuttle|response to calcium ion	integral to plasma membrane|mitochondrial inner membrane	calcium ion binding|L-aspartate transmembrane transporter activity|L-glutamate transmembrane transporter activity	g.chr7:95750981A>G	AF118838	CCDS5645.1, CCDS55130.1	7q21.3	2013-05-22	2012-03-29		ENSG00000004864	ENSG00000004864		"Solute carriers", "EF-hand domain containing"	10983	protein-coding gene	gene with protein product	"mitochondrial aspartate glutamate carrier 2"	603859	"solute carrier family 25, member 13 (citrin)"	CTLN2		10369257	Standard	NM_014251		Approved	CITRIN, ARALAR2	uc003uog.4	Q9UJS0	OTTHUMG00000023074	ENST00000265631.5:c.1827T>C	7.37:g.95750981A>G						SLC25A13_ENST00000265631.5_Silent_p.I609I|SLC25A13_ENST00000542654.1_Silent_p.I501I|SLC25A13_ENST00000494085.1_5'UTR	p.I610I	NM_001160210.1|NM_014251.2	NP_001153682.1|NP_055066.1	Q9UJS0	CMC2_HUMAN	STAD - Stomach adenocarcinoma(171;0.194)		17	2020	-	all_cancers(62;7.75e-08)|all_epithelial(64;1.16e-07)		609					O14566|O14575|Q546F9|Q9NZW1|Q9UNI7	Silent	SNP	ENST00000265631.5	37	c.1830T>C	CCDS5645.1																																																																																				0.413	SLC25A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059395.2	NM_014251		79	244	0	0	0	0.870114	0	79	244					G	95750981	A	G	95750981	2	3	62	1	0	0	0	0	0	0	0	1	14475	126	5	4		4	SLC25A13	7	95750981	Silent	SNP	A	TCGA-EJ-5514-01A-01D-1576-08	51189642	95750981	63387682	23	3170											
MUC17	140453	broad.mit.edu	37	chr7	100684772	100684772	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggtcagttctgaggctagcAccctttccacaactcctgtt	7	13	8	13	0	2	1	1	1	1	0	4	1	4	1	3	2	2	4	3	2	2	4			TCGA-EJ-5514-01A-01D-1576-08	TCGA-EJ-5514-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f28f091d-5cd5-447f-b956-3ef7eb305fe2	7b498228-7d17-4b2e-b815-123ebfe1f366	g.chr7:100684772A>G	ENST00000306151.4	+	3	10139	c.10075A>G	c.(10075-10077)Acc>Gcc	p.T3359A		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	3359	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)	p.T3359A(1)		NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					TGAGGCTAGCACCCTTTCCAC	0.488																																						ENST00000306151.4																			1	Substitution - Missense(1)	p.T3359A(1)	prostate(1)	NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343						c.(10075-10077)Acc>Gcc		mucin 17, cell surface associated							308	317	314					7																	100684772		2203	4300	6503	SO:0001583	missense	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100684772A>G	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"Mucins"	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.10075A>G	7.37:g.100684772A>G	ENSP00000302716:p.Thr3359Ala						p.T3359A	NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN			3	10139	+	Lung NSC(181;0.136)|all_lung(186;0.182)		3359			59 X approximate tandem repeats.|Ser-rich.		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	c.10075A>G	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	a	7.783	0.709952	0.15239	.	.	ENSG00000169876	ENST00000306151	T	0.01887	4.58	1.44	-2.88	0.05682	.	.	.	.	.	T	0.03220	0.0094	N	0.24115	0.695	0.09310	N	1	D	0.58268	0.982	D	0.67548	0.952	T	0.33033	-0.9884	9	0.23891	T	0.37	.	2.2978	0.04154	0.581:0.0:0.1777:0.2414	.	3359	Q685J3	MUC17_HUMAN	A	3359	ENSP00000302716:T3359A	ENSP00000302716:T3359A	T	+	1	0	MUC17	100471492	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-1.999000	0.01467	-0.908000	0.03857	0.165000	0.16767	ACC		0.488	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		123	436	0	0	0	0.870114	0	123	436					G	100684772	A	G	100684772	3	3	62	1	0	0	0	0	1	0	0	0	9974	159	6	4	10085	4	MUC17	7	100684772	Missense_Mutation	SNP	A	TCGA-EJ-5514-01A-01D-1576-08	4933791	100684772	58453891	24	3171											
TNFRSF10A	8797	broad.mit.edu	37	chr8	23056931	23056931	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	attgtcctcagccccaggccCtcgtaggagacccaagcgcc	8	6	10	17	2	1	1	1	0	0	1	3	2	2	1	6	2	2	1	6	2	2	2			TCGA-EJ-5514-01A-01D-1576-08	TCGA-EJ-5514-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f28f091d-5cd5-447f-b956-3ef7eb305fe2	7b498228-7d17-4b2e-b815-123ebfe1f366	g.chr8:23056931C>A	ENST00000221132.3	-	8	926	c.862G>T	c.(862-864)Ggg>Tgg	p.G288W		NM_003844.3	NP_003835.3	O00220	TR10A_HUMAN	tumor necrosis factor receptor superfamily, member 10a	288					activation of NF-kappaB-inducing kinase activity (GO:0007250)|apoptotic process (GO:0006915)|cellular response to mechanical stimulus (GO:0071260)|extrinsic apoptotic signaling pathway (GO:0097191)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|signal transduction (GO:0007165)|TRAIL-activated apoptotic signaling pathway (GO:0036462)	integral component of membrane (GO:0016021)	death receptor activity (GO:0005035)|protease binding (GO:0002020)|receptor activity (GO:0004872)|TRAIL binding (GO:0045569)|transcription factor binding (GO:0008134)	p.G288W(2)		NS(2)|central_nervous_system(3)|endometrium(2)|large_intestine(3)|lung(1)|ovary(3)|prostate(1)|skin(1)	16		Prostate(55;0.0421)|Breast(100;0.14)		Colorectal(74;0.016)|COAD - Colon adenocarcinoma(73;0.0646)		GCCCCAGGCCCTCGTAGGAGA	0.602																																						ENST00000221132.3																			2	Substitution - Missense(2)	p.G288W(2)	prostate(2)	NS(2)|central_nervous_system(3)|endometrium(2)|large_intestine(3)|lung(1)|ovary(3)|prostate(1)|skin(1)	16						c.(862-864)Ggg>Tgg		tumor necrosis factor receptor superfamily, member 10a							78	79	79					8																	23056931		2203	4300	6503	SO:0001583	missense	8797				activation of NF-kappaB-inducing kinase activity|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors		caspase activator activity|death receptor activity|TRAIL binding|transcription factor binding	g.chr8:23056931C>A	U90875	CCDS6039.1	8p21	2006-02-22			ENSG00000104689	ENSG00000104689		"Tumor necrosis factor receptor superfamily", "CD molecules"	11904	protein-coding gene	gene with protein product		603611				9311998, 9082980	Standard	NM_003844		Approved	DR4, Apo2, TRAILR-1, CD261	uc003xda.3	O00220	OTTHUMG00000097843	ENST00000221132.3:c.862G>T	8.37:g.23056931C>A	ENSP00000221132:p.Gly288Trp						p.G288W	NM_003844.3	NP_003835.3	O00220	TR10A_HUMAN		Colorectal(74;0.016)|COAD - Colon adenocarcinoma(73;0.0646)	8	926	-		Prostate(55;0.0421)|Breast(100;0.14)	288					A8K5I4|Q53Y72|Q96E62	Missense_Mutation	SNP	ENST00000221132.3	37	c.862G>T	CCDS6039.1	.	.	.	.	.	.	.	.	.	.	C	12.90	2.076509	0.36662	.	.	ENSG00000104689	ENST00000221132	D	0.84660	-1.88	3.69	-0.429	0.12303	.	12.694400	0.00797	N	0.001383	T	0.79834	0.4514	L	0.50333	1.59	0.09310	N	1	P	0.39131	0.661	B	0.36186	0.219	T	0.66168	-0.5991	10	0.72032	D	0.01	.	2.6408	0.04970	0.2117:0.4169:0.0:0.3713	.	288	O00220	TR10A_HUMAN	W	288	ENSP00000221132:G288W	ENSP00000221132:G288W	G	-	1	0	TNFRSF10A	23112876	0.002000	0.14202	0.000000	0.03702	0.011000	0.07611	0.222000	0.17699	-0.009000	0.14296	0.591000	0.81541	GGG		0.602	TNFRSF10A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215133.2	NM_003844		4	90	1	0	0.150653	0.150653	0.154958	4	90					A	23056931	C	A	23056931	3	1	62	1	0	0	0	0	1	0	0	0	16277	681	24	5	556	5	TNFRSF10A	8	23056931	Missense_Mutation	SNP	C	TCGA-EJ-5514-01A-01D-1576-08		23056931	123307091	25	3172											
EXT1	2131	broad.mit.edu	37	chr8	118812096	118812096	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tcatgcagctctgtcgctggGcaaagtggtcagggtcagcc	7	9	14	11	1	4	0	3	0	1	0	5	0	4	0	1	3	3	4	1	3	1	0			TCGA-EJ-5514-01A-01D-1576-08	TCGA-EJ-5514-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f28f091d-5cd5-447f-b956-3ef7eb305fe2	7b498228-7d17-4b2e-b815-123ebfe1f366	g.chr8:118812096G>T	ENST00000378204.2	-	11	2902	c.2096C>A	c.(2095-2097)gCc>gAc	p.A699D		NM_000127.2	NP_000118.2	Q16394	EXT1_HUMAN	exostosin glycosyltransferase 1	699	Substrate binding. {ECO:0000250|UniProtKB:Q9ES89}.				axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|cellular polysaccharide biosynthetic process (GO:0033692)|embryonic skeletal joint development (GO:0072498)|endoderm development (GO:0007492)|gastrulation (GO:0007369)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process (GO:0015014)|mesoderm development (GO:0007498)|olfactory bulb development (GO:0021772)|ossification (GO:0001503)|protein glycosylation (GO:0006486)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)	acetylglucosaminyltransferase activity (GO:0008375)|glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity (GO:0050508)|glucuronosyltransferase activity (GO:0015020)|heparan sulfate N-acetylglucosaminyltransferase activity (GO:0042328)|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity (GO:0050509)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|transferase activity, transferring glycosyl groups (GO:0016757)	p.A699D(1)		breast(1)|endometrium(7)|kidney(1)|large_intestine(12)|lung(10)|ovary(3)|prostate(1)|stomach(1)|urinary_tract(2)	38	all_cancers(13;2.36e-26)|Lung NSC(37;5.02e-07)|Ovarian(258;0.0173)		STAD - Stomach adenocarcinoma(47;0.012)			CTGTCGCTGGGCAAAGTGGTC	0.527			"Mis, N, F, S"			"exostoses, osteosarcoma"			Langer-Giedion syndrome;Hereditary Multiple Exostoses																													ENST00000378204.2			yes	Rec		Multiple Exostoses Type 1	8	8q24.11-q24.13	2131	"Mis, N, F, S"	multiple exostoses type 1 gene			M		"exostoses, osteosarcoma"			1	Substitution - Missense(1)	p.A699D(1)	prostate(1)	breast(1)|endometrium(7)|kidney(1)|large_intestine(12)|lung(10)|ovary(3)|prostate(1)|stomach(1)|urinary_tract(2)	38						c.(2095-2097)gCc>gAc		exostosin glycosyltransferase 1							69	66	67					8																	118812096		2203	4300	6503	SO:0001583	missense	2131	Langer-Giedion syndrome;Hereditary Multiple Exostoses	Familial Cancer Database	Trichorhinophalangeal syndrome type 2, TRPS II;HME, Hereditary Exostoses, Multiple Osteochondromatosis, Multiple Cartilaginous Exostoses	glycosaminoglycan biosynthetic process|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|ossification|signal transduction|skeletal system development	Golgi membrane|integral to endoplasmic reticulum membrane	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|heparan sulfate N-acetylglucosaminyltransferase activity|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity	g.chr8:118812096G>T	S79639	CCDS6324.1	8q24.11	2014-09-17	2013-03-01		ENSG00000182197	ENSG00000182197	2.4.1.224, 2.4.1.225	"Exostosin glycosyltransferase family"	3512	protein-coding gene	gene with protein product	"Glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N- acetylglucosaminyltransferase", "N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase"	608177	"Langer-Giedion syndrome chromosome region", "exostoses (multiple) 1", "exostosin 1"	LGCR, LGS			Standard	NM_000127		Approved	ttv	uc003yok.1	Q16394	OTTHUMG00000059718	ENST00000378204.2:c.2096C>A	8.37:g.118812096G>T	ENSP00000367446:p.Ala699Asp						p.A699D	NM_000127.2	NP_000118.2	Q16394	EXT1_HUMAN	STAD - Stomach adenocarcinoma(47;0.012)		11	2902	-	all_cancers(13;2.36e-26)|Lung NSC(37;5.02e-07)|Ovarian(258;0.0173)		699					B2R7V2|Q9BVI9	Missense_Mutation	SNP	ENST00000378204.2	37	c.2096C>A	CCDS6324.1	.	.	.	.	.	.	.	.	.	.	G	17.54	3.415547	0.62511	.	.	ENSG00000182197	ENST00000378204	T	0.77620	-1.11	5.96	5.96	0.96718	EXTL2, alpha-1,4-N-acetylhexosaminyltransferase (1);	0.000000	0.85682	D	0.000000	T	0.74152	0.3679	L	0.45698	1.435	0.80722	D	1	B	0.28208	0.203	B	0.31614	0.133	T	0.68062	-0.5508	10	0.12430	T	0.62	-10.1038	20.422	0.99049	0.0:0.0:1.0:0.0	.	699	Q16394	EXT1_HUMAN	D	699	ENSP00000367446:A699D	ENSP00000367446:A699D	A	-	2	0	EXT1	118881277	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.869000	0.99810	2.832000	0.97577	0.655000	0.94253	GCC		0.527	EXT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132768.3	NM_000127		3	112	1	0	0.004672	0.115264	0.005256	3	112					T	118812096	G	T	118812096	3	4	62	1	0	0	0	0	1	0	0	0	5323	1203	42	5	148	5	EXT1	8	118812096	Missense_Mutation	SNP	G	TCGA-EJ-5514-01A-01D-1576-08	95755165	118812096	27551926	26	3173											
DBC1	1620	broad.mit.edu	37	chr9	121976298	121976298	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgatggggcagttgcactgcGgaaactcctcggcacattgg	8	9	14	10	2	0	1	0	1	0	0	2	2	1	2	1	5	3	4	1	5	1	2	rs148052034		TCGA-EJ-5514-01A-01D-1576-08	TCGA-EJ-5514-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f28f091d-5cd5-447f-b956-3ef7eb305fe2	7b498228-7d17-4b2e-b815-123ebfe1f366	g.chr9:121976298G>A	ENST00000265922.3	-	6	1282	c.821C>T	c.(820-822)cCg>cTg	p.P274L	BRINP1_ENST00000373964.2_Missense_Mutation_p.P274L	NM_014618.2	NP_055433.2	O60477	BRNP1_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 1	274					cell cycle arrest (GO:0007050)|cell death (GO:0008219)|cellular response to retinoic acid (GO:0071300)|negative regulation of cell cycle (GO:0045786)|negative regulation of mitotic cell cycle (GO:0045930)|positive regulation of neuron differentiation (GO:0045666)	cytoplasm (GO:0005737)		p.P274L(1)									GTTGCACTGCGGAAACTCCTC	0.547													G|||	1	0.000199681	0	0	5008	,	,		18851	0		0.001	False		,,,				2504	0					ENST00000265922.3																			1	Substitution - Missense(1)	p.P274L(1)	prostate(1)	NS(1)|breast(3)|central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(15)|liver(1)|lung(34)|ovary(3)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	83						c.(820-822)cCg>cTg									131	113	119					9																	121976298		2203	4300	6503	SO:0001583	missense	0				cell cycle arrest|cell death	cytoplasm	protein binding	g.chr9:121976298G>A	AF027734	CCDS6822.1	9q32-q33	2013-08-06	2013-08-06	2013-07-31	ENSG00000078725	ENSG00000078725			2687	protein-coding gene	gene with protein product		602865	"deleted in bladder cancer chromosome region candidate 1", "deleted in bladder cancer 1"	DBCCR1, DBC1		9175739, 10444335, 15193422	Standard	NM_014618		Approved	FAM5A	uc004bkc.2	O60477	OTTHUMG00000021020	ENST00000265922.3:c.821C>T	9.37:g.121976298G>A	ENSP00000265922:p.Pro274Leu					DBC1_ENST00000373964.2_Missense_Mutation_p.P274L	p.P274L	NM_014618.2	NP_055433.2	O60477	DBC1_HUMAN			6	1282	-			274					Q6IPV6|Q6P1A0|Q8WU22	Missense_Mutation	SNP	ENST00000265922.3	37	c.821C>T	CCDS6822.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	20.5	4.006064	0.74932	.	.	ENSG00000078725	ENST00000373969;ENST00000265922;ENST00000373964	T;T	0.55052	2.13;0.54	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	T	0.73032	0.3535	M	0.71206	2.165	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79108	0.992;0.982	T	0.75156	-0.3417	10	0.87932	D	0	-13.4369	18.6631	0.91478	0.0:0.0:1.0:0.0	.	274;274	O60477-2;O60477	.;DBC1_HUMAN	L	274	ENSP00000265922:P274L;ENSP00000363075:P274L	ENSP00000265922:P274L	P	-	2	0	DBC1	121016119	1.000000	0.71417	0.975000	0.42487	0.875000	0.50365	9.476000	0.97823	2.659000	0.90383	0.563000	0.77884	CCG		0.547	BRINP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055440.2	NM_014618		34	113	0	0	0	0.788014	0	34	113					A	121976298	G	A	121976298	3	1	62	1	0	0	0	0	1	0	0	0	4247	1116	39	2	1476	2	DBC1	9	121976298	Missense_Mutation	SNP	G	TCGA-EJ-5514-01A-01D-1576-08		121976298	19237133	27	3174											
CACNB2	783	broad.mit.edu	37	chr10	18828621	18828621	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	aaaaacggaatgaggctgggGagtggaacagggatgtttac	14	7	16	4	1	0	1	0	1	0	0	0	5	0	5	0	6	3	2	0	6	5	2			TCGA-EJ-5514-01A-01D-1576-08	TCGA-EJ-5514-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f28f091d-5cd5-447f-b956-3ef7eb305fe2	7b498228-7d17-4b2e-b815-123ebfe1f366	g.chr10:18828621G>A	ENST00000324631.7	+	14	2011	c.1951G>A	c.(1951-1953)Gag>Aag	p.E651K	CACNB2_ENST00000377331.2_Missense_Mutation_p.E599K|CACNB2_ENST00000377315.4_Missense_Mutation_p.E603K|RP11-499P20.2_ENST00000436485.1_RNA|CACNB2_ENST00000282343.8_Missense_Mutation_p.E623K|CACNB2_ENST00000377329.4_Missense_Mutation_p.E597K|CACNB2_ENST00000352115.6_Missense_Mutation_p.E627K|CACNB2_ENST00000377328.1_Missense_Mutation_p.E401K|RP11-499P20.2_ENST00000425669.1_RNA|CACNB2_ENST00000377319.3_Missense_Mutation_p.E558K|CACNB2_ENST00000396576.2_Missense_Mutation_p.E596K	NM_201593.2|NM_201596.2	NP_963887.2|NP_963890.2	Q08289	CACB2_HUMAN	calcium channel, voltage-dependent, beta 2 subunit	651					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|neuromuscular junction development (GO:0007528)|positive regulation of calcium ion transport (GO:0051928)|synaptic transmission (GO:0007268)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|voltage-gated calcium channel complex (GO:0005891)	calcium channel activity (GO:0005262)|voltage-gated calcium channel activity (GO:0005245)	p.E596K(1)|p.E627K(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|stomach(2)	31					Amlodipine(DB00381)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	TGAGGCTGGGGAGTGGAACAG	0.423																																						ENST00000396576.2																			2	Substitution - Missense(2)	p.E596K(1)|p.E627K(1)	prostate(2)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|stomach(2)	31						c.(1786-1788)Gag>Aag		calcium channel, voltage-dependent, beta 2 subunit	Magnesium Sulfate(DB00653)|Verapamil(DB00661)						69	67	67					10																	18828621		2203	4299	6502	SO:0001583	missense	783				axon guidance|neuromuscular junction development	integral to plasma membrane|sarcolemma|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity	g.chr10:18828621G>A	U95019	CCDS7125.1, CCDS7126.1, CCDS7127.1, CCDS7128.1, CCDS7129.1, CCDS41493.1, CCDS41494.1	10p12	2014-09-17			ENSG00000165995	ENSG00000165995		"Calcium channel subunits"	1402	protein-coding gene	gene with protein product		600003		MYSB, CACNLB2		9254841, 8494331	Standard	NM_201596		Approved		uc001ipr.2	Q08289	OTTHUMG00000017764	ENST00000324631.7:c.1951G>A	10.37:g.18828621G>A	ENSP00000320025:p.Glu651Lys					CACNB2_ENST00000282343.8_Missense_Mutation_p.E623K|CACNB2_ENST00000377319.3_Missense_Mutation_p.E558K|RP11-499P20.2_ENST00000425669.1_RNA|CACNB2_ENST00000377315.4_Missense_Mutation_p.E603K|CACNB2_ENST00000377329.4_Missense_Mutation_p.E597K|CACNB2_ENST00000324631.7_Missense_Mutation_p.E651K|CACNB2_ENST00000352115.6_Missense_Mutation_p.E627K|CACNB2_ENST00000377331.2_Missense_Mutation_p.E599K|CACNB2_ENST00000377328.1_Missense_Mutation_p.E401K	p.E596K	NM_000724.3	NP_000715.2	Q08289	CACB2_HUMAN			13	2287	+			651					A6PVM5|A6PVM7|A6PVM8|O00304|Q5QJ99|Q5QJA0|Q5VVG9|Q5VVH0|Q5VWV6|Q6TME1|Q6TME2|Q6TME3|Q8WX81|Q96NZ3|Q96NZ4|Q96NZ5|Q9BWU2|Q9HD32|Q9Y340|Q9Y341	Missense_Mutation	SNP	ENST00000324631.7	37	c.1786G>A	CCDS7125.1	.	.	.	.	.	.	.	.	.	.	G	20.5	3.998954	0.74818	.	.	ENSG00000165995	ENST00000324631;ENST00000352115;ENST00000377328;ENST00000282343;ENST00000377331;ENST00000396576;ENST00000377319;ENST00000377329;ENST00000377315	D;D;D;D;D;D;D;D;D	0.84070	-1.75;-1.76;-1.8;-1.74;-1.77;-1.75;-1.77;-1.75;-1.74	5.17	5.17	0.71159	.	0.342118	0.33875	N	0.004462	T	0.79845	0.4516	L	0.38175	1.15	0.58432	D	0.999993	B;P;D;P;B;P;P;B;B;P;B;P;P	0.53745	0.155;0.77;0.962;0.568;0.425;0.694;0.469;0.081;0.425;0.852;0.286;0.695;0.77	B;B;P;B;B;B;B;B;B;B;B;B;B	0.44422	0.034;0.101;0.449;0.063;0.063;0.204;0.05;0.046;0.101;0.204;0.169;0.423;0.101	T	0.80591	-0.1314	10	0.42905	T	0.14	-14.4893	18.8737	0.92327	0.0:0.0:1.0:0.0	.	565;623;401;603;573;597;607;558;599;623;613;627;651	B7Z1U5;Q5QJA0;A6PVM6;Q5VVH1;Q6TME1;Q08289-3;Q59H42;Q08289-6;A6PVM7;Q08289-4;Q08289-7;Q08289-8;Q08289	.;.;.;.;.;.;.;.;.;.;.;.;CACB2_HUMAN	K	651;627;401;623;599;596;558;597;603	ENSP00000320025:E651K;ENSP00000344474:E627K;ENSP00000366545:E401K;ENSP00000282343:E623K;ENSP00000366548:E599K;ENSP00000379821:E596K;ENSP00000366536:E558K;ENSP00000366546:E597K;ENSP00000366532:E603K	ENSP00000282343:E623K	E	+	1	0	CACNB2	18868627	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.160000	0.94734	2.703000	0.92315	0.655000	0.94253	GAG		0.423	CACNB2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047072.2	NM_000724		9	120	0	0	0	0.335167	0	9	120					A	18828621	G	A	18828621	3	1	62	1	0	0	0	0	1	0	0	0	2553	1175	41	3	2315	3	CACNB2	10	18828621	Missense_Mutation	SNP	G	TCGA-EJ-5514-01A-01D-1576-08		18828621	116706126	28	3175											
PNLIPRP1	5407	broad.mit.edu	37	chr10	118357365	118357365	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gatcctgtagaagcaagtttCgagagtactcctgaagaggt	12	10	12	7	1	0	4	0	1	0	3	3	6	2	4	2	1	2	4	2	1	5	3	rs113515929	byFrequency	TCGA-EJ-5514-01A-01D-1576-08	TCGA-EJ-5514-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f28f091d-5cd5-447f-b956-3ef7eb305fe2	7b498228-7d17-4b2e-b815-123ebfe1f366	g.chr10:118357365C>T	ENST00000528052.1	+	7	671	c.600C>T	c.(598-600)ttC>ttT	p.F200F	PNLIPRP1_ENST00000534537.1_Silent_p.F200F|PNLIPRP1_ENST00000358834.4_Silent_p.F200F			P54315	LIPR1_HUMAN	pancreatic lipase-related protein 1	200					lipid metabolic process (GO:0006629)	extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|triglyceride lipase activity (GO:0004806)	p.F200F(1)		breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	38				all cancers(201;0.0161)		AAGCAAGTTTCGAGAGTACTC	0.493													C|||	2	0.000399361	0.0015	0	5008	,	,		20282	0		0	False		,,,				2504	0					ENST00000528052.1																			1	Substitution - coding silent(1)	p.F200F(1)	prostate(1)	breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	38						c.(598-600)ttC>ttT		pancreatic lipase-related protein 1		C		1,4405	2.1+/-5.4	0,1,2202	168	147	154		600	-4.3	0.1	10	dbSNP_132	154	0,8600		0,0,4300	no	coding-synonymous	PNLIPRP1	NM_006229.2		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		200/468	118357365	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	5407				lipid metabolic process		calcium ion binding|triglyceride lipase activity	g.chr10:118357365C>T	BC025784	CCDS7595.1	10q26.12	2006-07-04			ENSG00000187021	ENSG00000187021			9156	protein-coding gene	gene with protein product		604422				1379598	Standard	NM_006229		Approved	PLRP1	uc001lco.1	P54315	OTTHUMG00000019109	ENST00000528052.1:c.600C>T	10.37:g.118357365C>T						PNLIPRP1_ENST00000358834.4_Silent_p.F200F|PNLIPRP1_ENST00000534537.1_Silent_p.F200F	p.F200F			P54315	LIPR1_HUMAN		all cancers(201;0.0161)	7	671	+			200					Q68D83|Q68DR6|Q8TAU2|Q9BS82	Silent	SNP	ENST00000528052.1	37	c.600C>T	CCDS7595.1																																																																																				0.493	PNLIPRP1-011	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000384633.1	NM_006229		43	119	0	0	0	0.847076	0	43	119					T	118357365	C	T	118357365	2	4	62	1	0	0	0	0	0	0	0	1	12150	883	31	2		2	PNLIPRP1	10	118357365	Silent	SNP	C	TCGA-EJ-5514-01A-01D-1576-08	99528744	118357365	17177382	29	3176											
OR5I1	10798	broad.mit.edu	37	chr11	55703643	55703643	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accagcattttgggaacaatGtctgagaaatagcaaaggtc	15	9	10	7	0	1	1	0	1	1	1	2	3	1	2	1	2	3	2	1	2	5	3	rs144543203		TCGA-EJ-5514-01A-01D-1576-08	TCGA-EJ-5514-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f28f091d-5cd5-447f-b956-3ef7eb305fe2	7b498228-7d17-4b2e-b815-123ebfe1f366	g.chr11:55703643G>T	ENST00000301532.3	-	1	233	c.234C>A	c.(232-234)gaC>gaA	p.D78E		NM_006637.1	NP_006628.1	Q13606	OR5I1_HUMAN	olfactory receptor, family 5, subfamily I, member 1	78					signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.D78E(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(34)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						TGGGAACAATGTCTGAGAAAT	0.383																																						ENST00000301532.3																			1	Substitution - Missense(1)	p.D78E(1)	prostate(1)	endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(34)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						c.(232-234)gaC>gaA		olfactory receptor, family 5, subfamily I, member 1							49	51	50					11																	55703643		2198	4295	6493	SO:0001583	missense	10798				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55703643G>T	BC069093	CCDS7949.1	11q11	2012-08-09			ENSG00000167825	ENSG00000167825		"GPCR / Class A : Olfactory receptors"	8347	protein-coding gene	gene with protein product		608496				9017400, 9787077	Standard	NM_006637		Approved	HSOlf1, OLF1	uc010ris.2	Q13606	OTTHUMG00000166821	ENST00000301532.3:c.234C>A	11.37:g.55703643G>T	ENSP00000301532:p.Asp78Glu						p.D78E	NM_006637.1	NP_006628.1	Q13606	OR5I1_HUMAN			1	233	-			78					Q6IEU4	Missense_Mutation	SNP	ENST00000301532.3	37	c.234C>A	CCDS7949.1	.	.	.	.	.	.	.	.	.	.	G	11.17	1.558810	0.27827	.	.	ENSG00000167825	ENST00000301532	T	0.00428	7.44	5.05	1.91	0.25777	GPCR, rhodopsin-like superfamily (1);	0.338625	0.21274	N	0.077269	T	0.00241	0.0007	L	0.34521	1.04	0.09310	N	1	B	0.17667	0.023	B	0.12837	0.008	T	0.49716	-0.8910	10	0.72032	D	0.01	.	1.8233	0.03115	0.1784:0.1621:0.4922:0.1674	.	78	Q13606	OR5I1_HUMAN	E	78	ENSP00000301532:D78E	ENSP00000301532:D78E	D	-	3	2	OR5I1	55460219	0.000000	0.05858	0.974000	0.42286	0.631000	0.37964	-1.582000	0.02117	0.624000	0.30286	0.637000	0.83480	GAC		0.383	OR5I1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391528.1	NM_006637		4	104	1	0	0.00909568	0.150653	0.00977446	4	104					T	55703643	G	T	55703643	3	4	62	1	0	0	0	0	1	0	0	0	11164	1368	48	5	713	5	OR5I1	11	55703643	Missense_Mutation	SNP	G	TCGA-EJ-5514-01A-01D-1576-08		55703643	79302873	30	3177											
NPAT	4863	broad.mit.edu	37	chr11	108031665	108031665	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taagatttttactagaaggaCgagagtttcgctcacgttca	12	13	9	7	3	2	3	2	0	0	3	3	5	2	4	0	1	1	3	0	1	4	7			TCGA-EJ-5514-01A-01D-1576-08	TCGA-EJ-5514-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f28f091d-5cd5-447f-b956-3ef7eb305fe2	7b498228-7d17-4b2e-b815-123ebfe1f366	g.chr11:108031665C>T	ENST00000278612.8	-	17	4253	c.4148G>A	c.(4147-4149)cGt>cAt	p.R1383H		NM_002519.2	NP_002510.2	Q14207	NPAT_HUMAN	nuclear protein, ataxia-telangiectasia locus	1383					positive regulation of transcription, DNA-templated (GO:0045893)|regulation of gene expression (GO:0010468)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|transcription, DNA-templated (GO:0006351)	Cajal body (GO:0015030)|cytoplasm (GO:0005737)|Gemini of coiled bodies (GO:0097504)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)	p.R1383H(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(21)|ovary(2)|prostate(2)|skin(5)	46		all_cancers(61;2.31e-10)|all_epithelial(67;1.11e-06)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		BRCA - Breast invasive adenocarcinoma(274;1.05e-05)|Epithelial(105;3.01e-05)|all cancers(92;0.000816)|Colorectal(284;0.116)		ACTAGAAGGACGAGAGTTTCG	0.333																																						ENST00000278612.8																			1	Substitution - Missense(1)	p.R1383H(1)	prostate(1)	breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(21)|ovary(2)|prostate(2)|skin(5)	46						c.(4147-4149)cGt>cAt		nuclear protein, ataxia-telangiectasia locus							102	95	97					11																	108031665		1843	4083	5926	SO:0001583	missense	4863				positive regulation of transcription, DNA-dependent|regulation of transcription involved in G1/S phase of mitotic cell cycle	Cajal body	protein C-terminus binding|protein N-terminus binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity	g.chr11:108031665C>T	X97186	CCDS41710.1	11q22-q23	2008-02-01			ENSG00000149308	ENSG00000149308			7896	protein-coding gene	gene with protein product		601448				9205109	Standard	NM_002519		Approved	E14	uc001pjz.4	Q14207	OTTHUMG00000166385	ENST00000278612.8:c.4148G>A	11.37:g.108031665C>T	ENSP00000278612:p.Arg1383His						p.R1383H	NM_002519.2	NP_002510.2	Q14207	NPAT_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.05e-05)|Epithelial(105;3.01e-05)|all cancers(92;0.000816)|Colorectal(284;0.116)	17	4253	-		all_cancers(61;2.31e-10)|all_epithelial(67;1.11e-06)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)	1383					A8K1V5|A8K6M2|Q13632|Q14967|Q16580|Q86W55|Q8IWE9	Missense_Mutation	SNP	ENST00000278612.8	37	c.4148G>A	CCDS41710.1	.	.	.	.	.	.	.	.	.	.	C	18.62	3.663246	0.67700	.	.	ENSG00000149308	ENST00000278612	T	0.07444	3.19	5.13	5.13	0.70059	.	0.187644	0.47093	D	0.000247	T	0.13072	0.0317	L	0.48642	1.525	0.50467	D	0.999873	D	0.61080	0.989	P	0.50570	0.644	T	0.01604	-1.1314	10	0.34782	T	0.22	-11.7032	12.3346	0.55060	0.0:0.9219:0.0:0.0781	.	1383	Q14207	NPAT_HUMAN	H	1383	ENSP00000278612:R1383H	ENSP00000278612:R1383H	R	-	2	0	NPAT	107536875	1.000000	0.71417	0.994000	0.49952	0.794000	0.44872	5.290000	0.65661	2.559000	0.86315	0.555000	0.69702	CGT		0.333	NPAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389506.2	NM_002519		28	89	0	0	0	0.706142	0	28	89					T	108031665	C	T	108031665	3	4	62	1	0	0	0	0	1	0	0	0	10566	536	19	1	143	1	NPAT	11	108031665	Missense_Mutation	SNP	C	TCGA-EJ-5514-01A-01D-1576-08	52328022	108031665	26974851	31	3178											
ROBO4	54538	broad.mit.edu	37	chr11	124756546	124756546	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	accattggctaaggagccctCgctgggggtgggggtgaggc	6	7	19	9	1	0	1	0	1	0	0	1	2	0	2	2	7	1	2	2	7	1	2			TCGA-EJ-5514-01A-01D-1576-08	TCGA-EJ-5514-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f28f091d-5cd5-447f-b956-3ef7eb305fe2	7b498228-7d17-4b2e-b815-123ebfe1f366	g.chr11:124756546C>T	ENST00000306534.3	-	16	3093	c.2608G>A	c.(2608-2610)Gag>Aag	p.E870K	RP11-664I21.5_ENST00000524453.1_RNA|ROBO4_ENST00000533054.1_Missense_Mutation_p.E725K	NM_019055.5	NP_061928.4	Q8WZ75	ROBO4_HUMAN	roundabout, axon guidance receptor, homolog 4 (Drosophila)	870					angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|negative regulation of cell migration (GO:0030336)|regulation of cell migration (GO:0030334)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)	p.E870K(1)		NS(2)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(42)|ovary(1)|prostate(4)|skin(5)|urinary_tract(3)	76	all_hematologic(175;0.215)	Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0301)		AAGGAGCCCTCGCTGGGGGTG	0.667																																						ENST00000306534.3																			1	Substitution - Missense(1)	p.E870K(1)	prostate(1)	NS(2)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(42)|ovary(1)|prostate(4)|skin(5)|urinary_tract(3)	76						c.(2608-2610)Gag>Aag		roundabout, axon guidance receptor, homolog 4 (Drosophila)							21	24	23					11																	124756546		2200	4299	6499	SO:0001583	missense	54538				angiogenesis|cell differentiation	integral to membrane	receptor activity	g.chr11:124756546C>T	AF361473	CCDS8455.1, CCDS73409.1	11q24.2	2013-02-11	2011-12-09		ENSG00000154133	ENSG00000154133		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	17985	protein-coding gene	gene with protein product	"magic roundabout"	607528	"roundabout homolog 4 (Drosophila)"			11076864	Standard	NM_019055		Approved	FLJ20798, MRB, ECSM4	uc001qbg.3	Q8WZ75	OTTHUMG00000165936	ENST00000306534.3:c.2608G>A	11.37:g.124756546C>T	ENSP00000304945:p.Glu870Lys					RP11-664I21.5_ENST00000524453.1_RNA|ROBO4_ENST00000533054.1_Missense_Mutation_p.E725K	p.E870K	NM_019055.5	NP_061928.4	Q8WZ75	ROBO4_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0301)	16	3093	-	all_hematologic(175;0.215)	Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224)	870					A8K154|Q14DU7|Q8TEG1|Q96JV6|Q9H718|Q9NWJ8	Missense_Mutation	SNP	ENST00000306534.3	37	c.2608G>A	CCDS8455.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.212673	0.79240	.	.	ENSG00000154133	ENST00000306534;ENST00000533054	T;T	0.64438	-0.1;0.27	4.94	4.03	0.46877	.	0.000000	0.36893	N	0.002358	T	0.70465	0.3227	M	0.69823	2.125	0.30237	N	0.79533	D;D	0.67145	0.995;0.996	P;P	0.54312	0.748;0.642	T	0.71368	-0.4614	10	0.42905	T	0.14	.	13.3088	0.60368	0.0:0.9236:0.0:0.0764	.	870;870	Q8WZ75-2;Q8WZ75	.;ROBO4_HUMAN	K	870;725	ENSP00000304945:E870K;ENSP00000437129:E725K	ENSP00000304945:E870K	E	-	1	0	ROBO4	124261756	1.000000	0.71417	0.969000	0.41365	0.995000	0.86356	4.981000	0.63819	1.202000	0.43218	0.655000	0.94253	GAG		0.667	ROBO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387111.1	NM_019055		14	33	0	0	0	0.479597	0	14	33					T	124756546	C	T	124756546	3	4	62	1	0	0	0	0	1	0	0	0	13516	893	31	2	427	2	ROBO4	11	124756546	Missense_Mutation	SNP	C	TCGA-EJ-5514-01A-01D-1576-08	16724881	124756546	10249970	32	3179											
ATP2B1	490	broad.mit.edu	37	chr12	90020309	90020309	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttttttggcaaatttgcttTctttttatctttttcatcac	6	24	3	8	0	4	0	2	0	2	0	4	0	4	0	0	1	1	2	0	1	2	10			TCGA-EJ-5514-01A-01D-1576-08	TCGA-EJ-5514-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f28f091d-5cd5-447f-b956-3ef7eb305fe2	7b498228-7d17-4b2e-b815-123ebfe1f366	g.chr12:90020309T>C	ENST00000428670.3	-	8	1507	c.1051A>G	c.(1051-1053)Aaa>Gaa	p.K351E	ATP2B1_ENST00000348959.3_Missense_Mutation_p.K351E|ATP2B1_ENST00000261173.2_Missense_Mutation_p.K351E|ATP2B1_ENST00000393164.2_Missense_Mutation_p.K94E|ATP2B1_ENST00000359142.3_Missense_Mutation_p.K351E			P20020	AT2B1_HUMAN	ATPase, Ca++ transporting, plasma membrane 1	351					blood coagulation (GO:0007596)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|metal ion binding (GO:0046872)	p.K351E(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	45						AAATTTGCTTTCTTTTTATCT	0.373																																						ENST00000428670.3																			1	Substitution - Missense(1)	p.K351E(1)	prostate(1)	breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	45						c.(1051-1053)Aaa>Gaa		ATPase, Ca++ transporting, plasma membrane 1							113	108	110					12																	90020309		2203	4300	6503	SO:0001583	missense	490				ATP biosynthetic process|platelet activation	integral to plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding	g.chr12:90020309T>C	J04027	CCDS9035.1, CCDS41817.1	12q21.33	2010-04-20			ENSG00000070961	ENSG00000070961	3.6.3.8	"ATPases / P-type"	814	protein-coding gene	gene with protein product	"plasma membrane calcium-transporting ATPase 1"	108731				1674727	Standard	NM_001682		Approved	PMCA1	uc001tbh.3	P20020		ENST00000428670.3:c.1051A>G	12.37:g.90020309T>C	ENSP00000392043:p.Lys351Glu					ATP2B1_ENST00000348959.3_Missense_Mutation_p.K351E|ATP2B1_ENST00000359142.3_Missense_Mutation_p.K351E|ATP2B1_ENST00000261173.2_Missense_Mutation_p.K351E|ATP2B1_ENST00000393164.2_Missense_Mutation_p.K94E	p.K351E			P20020	AT2B1_HUMAN			8	1507	-			351					Q12992|Q12993|Q13819|Q13820|Q13821|Q16504|Q93082	Missense_Mutation	SNP	ENST00000428670.3	37	c.1051A>G	CCDS9035.1	.	.	.	.	.	.	.	.	.	.	T	16.52	3.147228	0.57151	.	.	ENSG00000070961	ENST00000261173;ENST00000348959;ENST00000359142;ENST00000428670;ENST00000393164	D;D;D;D;D	0.94457	-3.26;-3.23;-3.27;-3.26;-3.43	5.56	5.56	0.83823	.	0.046083	0.85682	D	0.000000	D	0.92378	0.7581	L	0.55103	1.725	0.48632	D	0.999684	B;B;B	0.33694	0.421;0.049;0.01	B;B;B	0.33750	0.169;0.101;0.01	D	0.90956	0.4809	9	.	.	.	-11.339	15.7182	0.77685	0.0:0.0:0.0:1.0	.	351;351;351	P20020-3;P20020-2;P20020-6	.;.;.	E	351;351;351;351;94	ENSP00000261173:K351E;ENSP00000343599:K351E;ENSP00000352054:K351E;ENSP00000392043:K351E;ENSP00000376869:K94E	.	K	-	1	0	ATP2B1	88544440	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.290000	0.72712	2.122000	0.65172	0.533000	0.62120	AAA		0.373	ATP2B1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406653.1	NM_001682		21	190	0	0	0	0.575678	0	21	190					C	90020309	T	C	90020309	3	2	62	1	0	0	0	0	1	0	0	0	1139	1792	62	4	2825	4	ATP2B1	12	90020309	Missense_Mutation	SNP	T	TCGA-EJ-5514-01A-01D-1576-08		90020309	43831586	33	3180											
PDS5B	23047	broad.mit.edu	37	chr13	33252986	33252986	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatcaggtttaatgatatccAtgtaccaatccgcctggaat	12	13	7	9	1	1	1	1	1	0	0	3	2	3	2	4	2	1	2	4	2	6	5			TCGA-EJ-5514-01A-01D-1576-08	TCGA-EJ-5514-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f28f091d-5cd5-447f-b956-3ef7eb305fe2	7b498228-7d17-4b2e-b815-123ebfe1f366	g.chr13:33252986A>G	ENST00000315596.10	+	10	1163	c.977A>G	c.(976-978)cAt>cGt	p.H326R		NM_015032.3	NP_055847.1	Q9NTI5	PDS5B_HUMAN	PDS5, regulator of cohesion maintenance, homolog B (S. cerevisiae)	326				H -> N (in Ref. 8; AAH39256). {ECO:0000305}.	cell proliferation (GO:0008283)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid cohesion (GO:0007064)|negative regulation of cell proliferation (GO:0008285)|regulation of cell proliferation (GO:0042127)	chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)	p.H326R(1)		NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|lung(14)|ovary(5)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	62		Lung SC(185;0.0367)		all cancers(112;5.55e-06)|Epithelial(112;2.7e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00303)|BRCA - Breast invasive adenocarcinoma(63;0.0204)		AATGATATCCATGTACCAATC	0.333																																						ENST00000315596.10																			1	Substitution - Missense(1)	p.H326R(1)	prostate(1)	NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|lung(14)|ovary(5)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	62						c.(976-978)cAt>cGt		PDS5, regulator of cohesion maintenance, homolog B (S. cerevisiae)							111	99	103					13																	33252986		1835	4088	5923	SO:0001583	missense	23047				cell division|cell proliferation|mitotic sister chromatid cohesion|negative regulation of cell proliferation	chromatin|nucleus	ATP binding|DNA binding|identical protein binding	g.chr13:33252986A>G	AB023196	CCDS41878.1	13q12.3	2008-02-05	2007-07-18	2007-07-18	ENSG00000083642	ENSG00000083642			20418	protein-coding gene	gene with protein product		605333	"androgen-induced proliferation inhibitor"	APRIN		8812419, 10215036	Standard	NM_015032		Approved	AS3, KIAA0979, FLJ23236, CG008	uc010abf.3	Q9NTI5	OTTHUMG00000016704	ENST00000315596.10:c.977A>G	13.37:g.33252986A>G	ENSP00000313851:p.His326Arg						p.H326R	NM_015032.3	NP_055847.1	Q9NTI5	PDS5B_HUMAN		all cancers(112;5.55e-06)|Epithelial(112;2.7e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00303)|BRCA - Breast invasive adenocarcinoma(63;0.0204)	10	1163	+		Lung SC(185;0.0367)	326	H -> N (in Ref. 8; AAH39256).				Q5R3S3|Q5W0K8|Q6NSC3|Q8IXT6|Q9H5N8|Q9Y2I5|Q9Y451	Missense_Mutation	SNP	ENST00000315596.10	37	c.977A>G	CCDS41878.1	.	.	.	.	.	.	.	.	.	.	A	25.3	4.620733	0.87460	.	.	ENSG00000083642	ENST00000315596;ENST00000421084	T	0.67523	-0.27	5.49	5.49	0.81192	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.72020	0.3409	L	0.51422	1.61	0.80722	D	1	P;P	0.51057	0.941;0.529	P;B	0.54026	0.74;0.228	T	0.71669	-0.4523	10	0.39692	T	0.17	-25.7285	15.5881	0.76502	1.0:0.0:0.0:0.0	.	326;326	Q9NTI5;Q9NTI5-3	PDS5B_HUMAN;.	R	326	ENSP00000313851:H326R	ENSP00000313851:H326R	H	+	2	0	PDS5B	32150986	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.233000	0.95337	2.090000	0.63153	0.459000	0.35465	CAT		0.333	PDS5B-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044428.3	NM_015032		17	84	0	0	0	0.500413	0	17	84					G	33252986	A	G	33252986	3	3	62	1	0	0	0	0	1	0	0	0	11692	217	8	4	1011	4	PDS5B	13	33252986	Missense_Mutation	SNP	A	TCGA-EJ-5514-01A-01D-1576-08		33252986	81916892	34	3181											
CHD8	57680	broad.mit.edu	37	chr14	21871248	21871248	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagctgtaagattaataccAagtccaccagcccgggtaca	13	7	9	12	1	0	1	0	0	0	1	1	1	1	1	4	1	4	4	4	1	5	4			TCGA-EJ-5514-01A-01D-1576-08	TCGA-EJ-5514-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f28f091d-5cd5-447f-b956-3ef7eb305fe2	7b498228-7d17-4b2e-b815-123ebfe1f366	g.chr14:21871248A>G	ENST00000557364.1	-	18	3905	c.3642T>C	c.(3640-3642)ctT>ctC	p.L1214L	CHD8_ENST00000555962.1_Intron|CHD8_ENST00000430710.3_Silent_p.L935L|CHD8_ENST00000399982.2_Silent_p.L1214L			Q9HCK8	CHD8_HUMAN	chromodomain helicase DNA binding protein 8	1214	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|canonical Wnt signaling pathway (GO:0060070)|DNA duplex unwinding (GO:0032508)|in utero embryonic development (GO:0001701)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of Wnt signaling pathway (GO:0030178)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	MLL1 complex (GO:0071339)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|beta-catenin binding (GO:0008013)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA-dependent ATPase activity (GO:0008094)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|p53 binding (GO:0002039)	p.L1214L(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)		GATTAATACCAAGTCCACCAG	0.483																																						ENST00000399982.2																			1	Substitution - coding silent(1)	p.L1214L(1)	prostate(1)	NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85						c.(3640-3642)ctT>ctC		chromodomain helicase DNA binding protein 8							67	70	69					14																	21871248		2152	4282	6434	SO:0001819	synonymous_variant	57680				ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	MLL1 complex	ATP binding|beta-catenin binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|methylated histone residue binding|p53 binding	g.chr14:21871248A>G	AB046784	CCDS45081.1, CCDS53885.1	14q11.2	2008-02-05	2004-06-22	2004-06-23		ENSG00000100888			20153	protein-coding gene	gene with protein product		610528	"helicase with SNF2 domain 1"	HELSNF1		10997877	Standard	NM_020920		Approved	KIAA1564, DUPLIN	uc001war.2	Q9HCK8		ENST00000557364.1:c.3642T>C	14.37:g.21871248A>G						CHD8_ENST00000557364.1_Silent_p.L1214L|CHD8_ENST00000430710.3_Silent_p.L935L|CHD8_ENST00000555962.1_Intron	p.L1214L	NM_001170629.1	NP_001164100.1	Q9HCK8	CHD8_HUMAN	Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)	17	3706	-	all_cancers(95;0.00121)		1214			Helicase C-terminal.		Q4G0D8|Q68DQ0|Q6DKH9|Q6P440|Q6ZNL7|Q8N3Z9|Q8NCY4|Q8TBR9|Q96F26	Silent	SNP	ENST00000557364.1	37	c.3642T>C	CCDS53885.1	.	.	.	.	.	.	.	.	.	.	A	6.905	0.536553	0.13188	.	.	ENSG00000100888	ENST00000555935	.	.	.	5.32	4.18	0.49190	.	.	.	.	.	T	0.56031	0.1958	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.52170	-0.8611	4	.	.	.	-17.3752	6.9407	0.24490	0.7706:0.15:0.0794:0.0	.	.	.	.	R	440	.	.	W	-	1	0	CHD8	20941088	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.806000	0.38892	1.034000	0.39945	0.533000	0.62120	TGG		0.483	CHD8-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410436.1	NM_020920		3	89	0	0	0	0.115264	0	3	89					G	21871248	A	G	21871248	2	3	62	1	0	0	0	0	0	0	0	1	3331	117	5	4		4	CHD8	14	21871248	Silent	SNP	A	TCGA-EJ-5514-01A-01D-1576-08		21871248	85478292	35	3182											
GANC	2595	broad.mit.edu	37	chr15	42602622	42602622	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	attttctggctgaatgcctcGgaaacactggtggagatcaa	11	11	11	8	1	2	2	1	1	1	1	3	4	2	3	1	4	2	1	1	4	3	2	rs369762885		TCGA-EJ-5514-01A-01D-1576-08	TCGA-EJ-5514-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f28f091d-5cd5-447f-b956-3ef7eb305fe2	7b498228-7d17-4b2e-b815-123ebfe1f366	g.chr15:42602622G>A	ENST00000318010.8	+	9	1104	c.864G>A	c.(862-864)tcG>tcA	p.S288S	GANC_ENST00000566442.1_Silent_p.S288S	NM_198141.2	NP_937784.2	Q8TET4	GANC_HUMAN	glucosidase, alpha; neutral C	288					carbohydrate metabolic process (GO:0005975)		alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|maltose alpha-glucosidase activity (GO:0032450)	p.S288S(2)		breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		all_cancers(109;3.08e-16)|all_epithelial(112;7.48e-15)|Lung NSC(122;3.08e-09)|all_lung(180;1.48e-08)|Melanoma(134;0.0574)|Colorectal(260;0.153)		GBM - Glioblastoma multiforme(94;1.06e-06)	Miglitol(DB00491)	TGAATGCCTCGGAAACACTGG	0.418																																						ENST00000318010.8																			2	Substitution - coding silent(2)	p.S288S(2)	prostate(1)|central_nervous_system(1)	breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						c.(862-864)tcG>tcA		glucosidase, alpha; neutral C		G		1,4405	2.1+/-5.4	0,1,2202	73	72	72		864	-7.7	0.9	15		72	0,8598		0,0,4299	no	coding-synonymous	GANC	NM_198141.2		0,1,6501	AA,AG,GG		0.0,0.0227,0.0077		288/915	42602622	1,13003	2203	4299	6502	SO:0001819	synonymous_variant	2595				carbohydrate metabolic process		carbohydrate binding|maltose alpha-glucosidase activity	g.chr15:42602622G>A	AF545045	CCDS10084.1	15q15.2	2012-10-02			ENSG00000214013	ENSG00000214013	3.2.1.20		4139	protein-coding gene	gene with protein product		104180				6995030, 12370436	Standard	NM_198141		Approved		uc001zpi.3	Q8TET4	OTTHUMG00000130487	ENST00000318010.8:c.864G>A	15.37:g.42602622G>A						GANC_ENST00000566442.1_Silent_p.S288S	p.S288S	NM_198141.2	NP_937784.2	Q8TET4	GANC_HUMAN		GBM - Glioblastoma multiforme(94;1.06e-06)	9	1104	+		all_cancers(109;3.08e-16)|all_epithelial(112;7.48e-15)|Lung NSC(122;3.08e-09)|all_lung(180;1.48e-08)|Melanoma(134;0.0574)|Colorectal(260;0.153)	288					Q52LQ4|Q8IWZ0|Q8IZM4|Q8IZM5	Silent	SNP	ENST00000318010.8	37	c.864G>A	CCDS10084.1																																																																																				0.418	GANC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252887.2	NM_198141		36	70	0	0	0	0.779181	0	36	70					A	42602622	G	A	42602622	2	1	62	1	0	0	0	0	0	0	0	1	6234	1103	39	2		2	GANC	15	42602622	Silent	SNP	G	TCGA-EJ-5514-01A-01D-1576-08		42602622	59928770	36	3183											
USP31	57478	broad.mit.edu	37	chr16	23080918	23080918	+	Frame_Shift_Del	DEL	T	T	-																															cgctggacacttctcacaaaTggtcgagttgaaaagcctcc																										TCGA-EJ-5514-01A-01D-1576-08	TCGA-EJ-5514-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f28f091d-5cd5-447f-b956-3ef7eb305fe2	7b498228-7d17-4b2e-b815-123ebfe1f366	g.chr16:23080918delT	ENST00000219689.7	-	16	2507	c.2508delA	c.(2506-2508)ccafs	p.P836fs	USP31_ENST00000567975.1_Frame_Shift_Del_p.P129fs	NM_020718.3	NP_065769.3	Q86UV5	UBP48_HUMAN	ubiquitin specific peptidase 31	0					ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ubiquitin-specific protease activity (GO:0004843)			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	57				GBM - Glioblastoma multiforme(48;0.0187)		TTCTCACAAATGGTCGAGTTG	0.443																																						ENST00000219689.7																			0				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	57						c.(2506-2508)ccfs		ubiquitin specific peptidase 31							44	39	40					16																	23080918		2197	4300	6497	SO:0001589	frameshift_variant	57478				ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr16:23080918delT	AB033029	CCDS10607.1	16p12.3	2008-02-05	2005-08-08		ENSG00000103404	ENSG00000103404		"Ubiquitin-specific peptidases"	20060	protein-coding gene	gene with protein product			"ubiquitin specific protease 31"			12838346	Standard	NM_020718		Approved	KIAA1203	uc002dll.3	Q70CQ4	OTTHUMG00000094793	ENST00000219689.7:c.2508delA	16.37:g.23080918delT	ENSP00000219689:p.Pro836fs					USP31_ENST00000567975.1_Frame_Shift_Del_p.P129fs	p.P836fs	NM_020718.3	NP_065769.3	Q70CQ4	UBP31_HUMAN		GBM - Glioblastoma multiforme(48;0.0187)	16	2507	-			836			Ser-rich.		B7ZKS7|Q2M3I4|Q5SZI4|Q5T3T5|Q6NX53|Q8N3F6|Q96F64|Q96IQ3|Q9H5N3|Q9H5T7|Q9NUJ6|Q9NXR0	Frame_Shift_Del	DEL	ENST00000219689.7	37	c.2508delA	CCDS10607.1																																																																																				0.443	USP31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211607.1	NM_020718		12	49						12	49	---	---	---	---	-	23080918	T	-	23080918	7	5	62	1	0	1	0	1	0	0	0	0	17059	1451	51	0	1554	0	USP31	16	23080918	Frame_Shift_Del	DEL	T	TCGA-EJ-5514-01A-01D-1576-08		23080918	67273835	37	3184											
CACNG3	10368	broad.mit.edu	37	chr16	24373178	24373178	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gccaacaggcgcaccacgccCgtctgaactgacctctgacc	9	5	9	18	3	2	3	0	3	2	0	2	3	2	3	5	1	2	1	5	1	2	0	rs201263434		TCGA-EJ-5514-01A-01D-1576-08	TCGA-EJ-5514-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f28f091d-5cd5-447f-b956-3ef7eb305fe2	7b498228-7d17-4b2e-b815-123ebfe1f366	g.chr16:24373178C>T	ENST00000005284.3	+	4	2144	c.942C>T	c.(940-942)ccC>ccT	p.P314P		NM_006539.3	NP_006530.1	O60359	CCG3_HUMAN	calcium channel, voltage-dependent, gamma subunit 3	314					calcium ion transport (GO:0006816)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|synaptic transmission (GO:0007268)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|endocytic vesicle membrane (GO:0030666)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)	p.P314P(1)		NS(2)|breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|prostate(4)|skin(2)	40				GBM - Glioblastoma multiforme(48;0.0809)		GCACCACGCCCGTCTGAACTG	0.552																																						ENST00000005284.3																			1	Substitution - coding silent(1)	p.P314P(1)	prostate(1)	NS(2)|breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|prostate(4)|skin(2)	40						c.(940-942)ccC>ccT		calcium channel, voltage-dependent, gamma subunit 3							39	41	40					16																	24373178		2197	4300	6497	SO:0001819	synonymous_variant	10368				regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane|voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr16:24373178C>T	AF131911	CCDS10620.1	16p12.1	2008-05-14			ENSG00000006116	ENSG00000006116		"Calcium channel subunits"	1407	protein-coding gene	gene with protein product		606403				10221464, 10493829	Standard	NM_006539		Approved		uc002dmf.3	O60359	OTTHUMG00000131651	ENST00000005284.3:c.942C>T	16.37:g.24373178C>T							p.P314P	NM_006539.3	NP_006530.1	O60359	CCG3_HUMAN		GBM - Glioblastoma multiforme(48;0.0809)	4	2144	+			314						Silent	SNP	ENST00000005284.3	37	c.942C>T	CCDS10620.1																																																																																				0.552	CACNG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254548.1	NM_006539		27	72	0	0	0	0.706142	0	27	72					T	24373178	C	T	24373178	2	4	62	1	0	0	0	0	0	0	0	1	2558	639	23	2		2	CACNG3	16	24373178	Silent	SNP	C	TCGA-EJ-5514-01A-01D-1576-08	1292260	24373178	65981575	38	3185											
ZKSCAN2	342357	broad.mit.edu	37	chr16	25251248	25251248	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acatgaacttcccgatgtttGgtaagaacagaactcttact	13	12	7	9	1	1	3	0	1	1	2	2	4	2	3	1	1	4	2	1	1	5	4			TCGA-EJ-5514-01A-01D-1576-08	TCGA-EJ-5514-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f28f091d-5cd5-447f-b956-3ef7eb305fe2	7b498228-7d17-4b2e-b815-123ebfe1f366	g.chr16:25251248G>T	ENST00000328086.7	-	7	3596	c.2793C>A	c.(2791-2793)acC>acA	p.T931T	CTD-2547G23.2_ENST00000569456.1_RNA	NM_001012981.4	NP_001012999.3	Q63HK3	ZKSC2_HUMAN	zinc finger with KRAB and SCAN domains 2	931					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)	p.T931T(1)		breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	36				GBM - Glioblastoma multiforme(48;0.0378)		CCCGATGTTTGGTAAGAACAG	0.463																																						ENST00000328086.7																			1	Substitution - coding silent(1)	p.T931T(1)	prostate(1)	breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	36						c.(2791-2793)acC>acA		zinc finger with KRAB and SCAN domains 2							114	102	106					16																	25251248		2197	4300	6497	SO:0001819	synonymous_variant	342357				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr16:25251248G>T	AK026852	CCDS32410.1	16p12.1	2013-01-09	2007-02-20	2007-02-20		ENSG00000155592		"Zinc fingers, C2H2-type", "-", "-", "-"	25677	protein-coding gene	gene with protein product			"zinc finger protein 694"	ZNF694			Standard	NM_001012981		Approved	FLJ23199, ZSCAN34	uc002dod.4	Q63HK3		ENST00000328086.7:c.2793C>A	16.37:g.25251248G>T							p.T931T	NM_001012981.4	NP_001012999.3	Q63HK3	ZKSC2_HUMAN		GBM - Glioblastoma multiforme(48;0.0378)	7	3596	-			931					A1L3B4|Q6ZN77	Silent	SNP	ENST00000328086.7	37	c.2793C>A	CCDS32410.1																																																																																				0.463	ZKSCAN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435739.1	NM_001012981		4	195	1	0	0.150653	0.150653	0.154958	4	195					T	25251248	G	T	25251248	2	4	62	1	0	0	0	0	0	0	0	1	17684	1335	47	5		5	ZKSCAN2	16	25251248	Silent	SNP	G	TCGA-EJ-5514-01A-01D-1576-08	878070	25251248	65103505	39	3186											
OSGIN1	29948	broad.mit.edu	37	chr16	83998851	83998851	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccctcttccaggtgagcggcTtcctgaccaggaaccaggcc	7	7	11	16	1	1	2	0	2	1	0	3	3	3	3	6	4	2	1	6	4	1	2			TCGA-EJ-5514-01A-01D-1576-08	TCGA-EJ-5514-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f28f091d-5cd5-447f-b956-3ef7eb305fe2	7b498228-7d17-4b2e-b815-123ebfe1f366	g.chr16:83998851T>C	ENST00000343939.2	+	7	1305	c.922T>C	c.(922-924)Ttc>Ctc	p.F308L	OSGIN1_ENST00000361711.3_Missense_Mutation_p.F225L|OSGIN1_ENST00000393306.1_Missense_Mutation_p.F225L			Q9UJX0	OSGI1_HUMAN	oxidative stress induced growth inhibitor 1	308					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|negative regulation of cell growth (GO:0030308)|positive regulation of apoptotic process (GO:0043065)		growth factor activity (GO:0008083)	p.F308L(1)		autonomic_ganglia(1)|large_intestine(1)|lung(7)|prostate(2)|upper_aerodigestive_tract(1)	12						GGTGAGCGGCTTCCTGACCAG	0.692																																						ENST00000343939.2																			1	Substitution - Missense(1)	p.F308L(1)	prostate(1)	autonomic_ganglia(1)|large_intestine(1)|lung(7)|prostate(2)|upper_aerodigestive_tract(1)	12						c.(922-924)Ttc>Ctc		oxidative stress induced growth inhibitor 1							46	52	50					16																	83998851		2200	4299	6499	SO:0001583	missense	29948				cell differentiation|multicellular organismal development|negative regulation of cell growth		growth factor activity	g.chr16:83998851T>C	AY258066	CCDS10939.1	16q23.3	2010-11-23			ENSG00000140961	ENSG00000140961			30093	protein-coding gene	gene with protein product	"bone marrow stromal cell-derived growth inhibitor", "pregnancy induced growth inhibitor"	607975				11459809, 14570898	Standard	NM_182981		Approved	BDGI, OKL38	uc002fhc.3	Q9UJX0	OTTHUMG00000137640	ENST00000343939.2:c.922T>C	16.37:g.83998851T>C	ENSP00000343376:p.Phe308Leu					OSGIN1_ENST00000361711.3_Missense_Mutation_p.F225L|OSGIN1_ENST00000393306.1_Missense_Mutation_p.F225L	p.F308L			Q9UJX0	OSGI1_HUMAN			7	1305	+			308					Q52M33|Q86UQ1|Q96S88|Q9BZ70	Missense_Mutation	SNP	ENST00000343939.2	37	c.922T>C		.	.	.	.	.	.	.	.	.	.	T	8.471	0.857606	0.17106	.	.	ENSG00000140961	ENST00000343939;ENST00000361711;ENST00000393306	T;T;T	0.37235	1.21;1.21;1.21	4.8	1.03	0.20045	.	0.224686	0.47093	D	0.000256	T	0.25938	0.0632	L	0.48642	1.525	0.80722	D	1	B	0.21071	0.051	B	0.17433	0.018	T	0.05099	-1.0906	10	0.30854	T	0.27	-8.5591	6.3826	0.21544	0.2745:0.0:0.1433:0.5822	.	308	Q9UJX0	OSGI1_HUMAN	L	308;225;225	ENSP00000343376:F308L;ENSP00000355374:F225L;ENSP00000376983:F225L	ENSP00000343376:F308L	F	+	1	0	OSGIN1	82556352	0.999000	0.42202	0.869000	0.34112	0.073000	0.16967	1.635000	0.37134	-0.114000	0.11936	-0.691000	0.03719	TTC		0.692	OSGIN1-001	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000269081.1	NM_013370		21	69	0	0	0	0.654019	0	21	69					C	83998851	T	C	83998851	3	2	62	1	0	0	0	0	1	0	0	0	11289	1609	56	4	948	4	OSGIN1	16	83998851	Missense_Mutation	SNP	T	TCGA-EJ-5514-01A-01D-1576-08	58747603	83998851	6355902	40	3187											
FXR2	9513	broad.mit.edu	37	chr17	7495581	7495581	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcctgcctaccttctgtccTgaaagagagtcttctgaggg	7	12	11	11	0	3	3	0	2	3	1	4	4	4	3	4	1	3	0	4	1	2	3			TCGA-EJ-5514-01A-01D-1576-08	TCGA-EJ-5514-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f28f091d-5cd5-447f-b956-3ef7eb305fe2	7b498228-7d17-4b2e-b815-123ebfe1f366	g.chr17:7495581T>C	ENST00000250113.7	-	16	2251	c.1917A>G	c.(1915-1917)tcA>tcG	p.S639S	SOX15_ENST00000250055.2_5'Flank|SOX15_ENST00000538513.2_5'Flank|SOX15_ENST00000570788.1_5'Flank|MPDU1_ENST00000423172.2_Intron|FXR2_ENST00000573057.1_5'UTR	NM_004860.3	NP_004851.2	P51116	FXR2_HUMAN	fragile X mental retardation, autosomal homolog 2	639						cytoplasm (GO:0005737)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.S639S(1)		NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)	26				READ - Rectum adenocarcinoma(115;0.17)		CCTTCTGTCCTGAAAGAGAGT	0.507																																						ENST00000250113.7																			1	Substitution - coding silent(1)	p.S639S(1)	prostate(1)	NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)	26						c.(1915-1917)tcA>tcG		fragile X mental retardation, autosomal homolog 2							124	124	124					17																	7495581		1963	4160	6123	SO:0001819	synonymous_variant	9513					cytosolic large ribosomal subunit	protein binding|RNA binding	g.chr17:7495581T>C	U31501	CCDS45604.1	17p13.3	2014-09-17				ENSG00000129245			4024	protein-coding gene	gene with protein product		605339		FMR1L2		7489725, 9259278	Standard	NM_004860		Approved		uc002gia.2	P51116		ENST00000250113.7:c.1917A>G	17.37:g.7495581T>C						FXR2_ENST00000573057.1_5'UTR|MPDU1_ENST00000423172.2_Intron	p.S639S	NM_004860.3	NP_004851.2	P51116	FXR2_HUMAN		READ - Rectum adenocarcinoma(115;0.17)	16	2251	-			639					B2R9M2|D3DTQ1|Q86V09|Q8WUM2	Silent	SNP	ENST00000250113.7	37	c.1917A>G	CCDS45604.1																																																																																				0.507	FXR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441084.1			3	144	0	0	0	0.115264	0	3	144					C	7495581	T	C	7495581	2	2	62	1	0	0	0	0	0	0	0	1	6116	1567	55	4		4	FXR2	17	7495581	Silent	SNP	T	TCGA-EJ-5514-01A-01D-1576-08		7495581	73699629	41	3188											
TP53	7157	broad.mit.edu	37	chr17	7577094	7577094	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	attctcttcctctgtgcgccGgtctctcccaggacaggcac	5	11	9	16	2	3	0	0	0	3	0	7	1	5	1	3	3	1	1	3	3	0	2	rs28934574		TCGA-EJ-5514-01A-01D-1576-08	TCGA-EJ-5514-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f28f091d-5cd5-447f-b956-3ef7eb305fe2	7b498228-7d17-4b2e-b815-123ebfe1f366	g.chr17:7577094G>A	ENST00000269305.4	-	8	1033	c.844C>T	c.(844-846)Cgg>Tgg	p.R282W	TP53_ENST00000359597.4_Missense_Mutation_p.R282W|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000445888.2_Missense_Mutation_p.R282W|TP53_ENST00000420246.2_Missense_Mutation_p.R282W|TP53_ENST00000455263.2_Missense_Mutation_p.R282W|TP53_ENST00000413465.2_Intron	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	282	Interaction with AXIN1. {ECO:0000250}.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		DR -> EW (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in a sporadic cancer; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|Ref.22}.|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation; does not induce SNAI1 degradation; dbSNP:rs28934574). {ECO:0000269|PubMed:8829627}.		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R282W(401)|p.R282G(29)|p.0?(8)|p.R282fs*24(4)|p.R282R(3)|p.?(2)|p.D281fs*63(2)|p.D281_R282>EW(2)|p.A276_R283delACPGRDRR(1)|p.D281_R282insXX(1)|p.C275fs*20(1)|p.R282_E287delRRTEEE(1)|p.L265_K305del41(1)|p.D281_R282delDR(1)|p.G279fs*59(1)|p.R280fs*62(1)|p.S269fs*21(1)|p.R282fs*63(1)|p.V272_K292del21(1)|p.C275_R283delCACPGRDRR(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	TCTGTGCGCCGGTCTCTCCCA	0.557		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"Mis, N, F"	tumor protein p53			"L, E, M, O"		"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"	"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"		463	Substitution - Missense(430)|Whole gene deletion(8)|Deletion - In frame(6)|Deletion - Frameshift(5)|Insertion - Frameshift(4)|Substitution - coding silent(3)|Unknown(2)|Complex - frameshift(2)|Complex - compound substitution(2)|Insertion - In frame(1)	p.R282W(401)|p.R282G(29)|p.0?(8)|p.R282fs*24(4)|p.R282R(3)|p.?(2)|p.D281fs*63(2)|p.D281_R282>EW(2)|p.A276_R283delACPGRDRR(1)|p.D281_R282insXX(1)|p.C275fs*20(1)|p.R282_E287delRRTEEE(1)|p.L265_K305del41(1)|p.D281_R282delDR(1)|p.G279fs*59(1)|p.R280fs*62(1)|p.S269fs*21(1)|p.R282fs*63(1)|p.V272_K292del21(1)|p.C275_R283delCACPGRDRR(1)	large_intestine(136)|oesophagus(49)|upper_aerodigestive_tract(43)|stomach(33)|central_nervous_system(29)|breast(29)|lung(26)|ovary(21)|skin(20)|urinary_tract(16)|haematopoietic_and_lymphoid_tissue(16)|pancreas(10)|biliary_tract(5)|liver(5)|bone(5)|vulva(4)|prostate(4)|endometrium(3)|peritoneum(2)|thyroid(2)|NS(2)|autonomic_ganglia(1)|soft_tissue(1)|salivary_gland(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185	GRCh37	CM056413|CM920678	TP53	M	rs28934574	c.(844-846)Cgg>Tgg	Other conserved DNA damage response genes	tumor protein p53		G	TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG	0,4406		0,0,2203	83	71	75	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	844,844,844,844,448,448,448	1.5	0.3	17	dbSNP_125	75	2,8598	2.2+/-6.3	1,0,4299	no	missense,missense,missense,missense,missense,missense,missense	TP53	NM_000546.4,NM_001126112.1,NM_001126113.1,NM_001126114.1,NM_001126115.1,NM_001126116.1,NM_001126117.1	101,101,101,101,101,101,101	1,0,6502	AA,AG,GG		0.0233,0.0,0.0154	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	282/394,282/394,282/347,282/342,150/262,150/210,150/215	7577094	2,13004	2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577094G>A	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"Li-Fraumeni syndrome"	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.844C>T	17.37:g.7577094G>A	ENSP00000269305:p.Arg282Trp	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_ENST00000445888.2_Missense_Mutation_p.R282W|TP53_ENST00000359597.4_Missense_Mutation_p.R282W|TP53_ENST00000455263.2_Missense_Mutation_p.R282W|TP53_ENST00000269305.4_Missense_Mutation_p.R282W|TP53_ENST00000413465.2_Intron	p.R282W	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	8	976	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	282		DR -> EW (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in a sporadic cancer; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934574).	Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.844C>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.057525	0.76074	0.0	2.33E-4	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99869	-7.34;-7.34;-7.34;-7.34;-7.34;-7.34	4.75	1.49	0.22878	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99825	0.9922	M	0.89968	3.075	0.58432	A	0.999999	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;0.998;1.0;0.999	D	0.97713	1.0192	9	0.87932	D	0	-12.0909	8.7508	0.34613	0.0:0.1376:0.5833:0.2792	rs28934574	282;282;282;282	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	W	282;282;282;282;282;271;150	ENSP00000352610:R282W;ENSP00000269305:R282W;ENSP00000398846:R282W;ENSP00000391127:R282W;ENSP00000391478:R282W;ENSP00000425104:R150W	ENSP00000269305:R282W	R	-	1	2	TP53	7517819	1.000000	0.71417	0.327000	0.25402	0.901000	0.52897	4.477000	0.60223	0.174000	0.19809	0.462000	0.41574	CGG		0.557	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		24	38	0	0	0	0.654019	0	24	38					A	7577094	G	A	7577094	3	1	62	1	0	0	0	0	1	0	0	0	16378	1115	39	2	442	2	TP53	17	7577094	Missense_Mutation	SNP	G	TCGA-EJ-5514-01A-01D-1576-08	81513	7577094	73618116	42	3189											
STAT5B	6777	broad.mit.edu	37	chr17	40362212	40362212	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aatcaaacttccaagcaatgGtgatgccgccaatttctgag	13	10	8	10	1	2	2	1	2	1	0	3	2	3	2	3	1	3	1	3	1	5	2			TCGA-EJ-5514-01A-01D-1576-08	TCGA-EJ-5514-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f28f091d-5cd5-447f-b956-3ef7eb305fe2	7b498228-7d17-4b2e-b815-123ebfe1f366	g.chr17:40362212G>A	ENST00000293328.3	-	15	2051	c.1883C>T	c.(1882-1884)aCc>aTc	p.T628I		NM_012448.3	NP_036580.2	P51692	STA5B_HUMAN	signal transducer and activator of transcription 5B	628	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				2-oxoglutarate metabolic process (GO:0006103)|acute-phase response (GO:0006953)|allantoin metabolic process (GO:0000255)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to growth factor stimulus (GO:0071363)|cellular response to hormone stimulus (GO:0032870)|citrate metabolic process (GO:0006101)|creatine metabolic process (GO:0006600)|creatinine metabolic process (GO:0046449)|development of secondary female sexual characteristics (GO:0046543)|development of secondary male sexual characteristics (GO:0046544)|fatty acid metabolic process (GO:0006631)|female pregnancy (GO:0007565)|isoleucine metabolic process (GO:0006549)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lactation (GO:0007595)|lipid storage (GO:0019915)|liver development (GO:0001889)|luteinization (GO:0001553)|natural killer cell differentiation (GO:0001779)|negative regulation of apoptotic process (GO:0043066)|negative regulation of erythrocyte differentiation (GO:0045647)|oxaloacetate metabolic process (GO:0006107)|Peyer's patch development (GO:0048541)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of cellular component movement (GO:0051272)|positive regulation of gamma-delta T cell differentiation (GO:0045588)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of natural killer cell differentiation (GO:0032825)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|positive regulation of natural killer cell proliferation (GO:0032819)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|progesterone metabolic process (GO:0042448)|prolactin signaling pathway (GO:0038161)|regulation of cell adhesion (GO:0030155)|regulation of epithelial cell differentiation (GO:0030856)|regulation of multicellular organism growth (GO:0040014)|regulation of steroid metabolic process (GO:0019218)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to hypoxia (GO:0001666)|response to interleukin-15 (GO:0070672)|response to interleukin-2 (GO:0070669)|response to interleukin-4 (GO:0070670)|response to lipopolysaccharide (GO:0032496)|succinate metabolic process (GO:0006105)|T cell differentiation in thymus (GO:0033077)|T cell homeostasis (GO:0043029)|taurine metabolic process (GO:0019530)|transcription from RNA polymerase II promoter (GO:0006366)|valine metabolic process (GO:0006573)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|glucocorticoid receptor binding (GO:0035259)|protein dimerization activity (GO:0046983)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)	p.T628I(1)		breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_cancers(22;4.15e-07)|all_epithelial(22;2.83e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.135)	Dasatinib(DB01254)	CCAAGCAATGGTGATGCCGCC	0.428																																						ENST00000293328.3																			1	Substitution - Missense(1)	p.T628I(1)	prostate(1)	breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(1882-1884)aCc>aTc		signal transducer and activator of transcription 5B	Dasatinib(DB01254)						122	108	112					17																	40362212		2203	4300	6503	SO:0001583	missense	6777				2-oxoglutarate metabolic process|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|fatty acid metabolic process|isoleucine metabolic process|JAK-STAT cascade involved in growth hormone signaling pathway|oxaloacetate metabolic process|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process	cytosol|nucleoplasm	calcium ion binding|glucocorticoid receptor binding|sequence-specific DNA binding transcription factor activity	g.chr17:40362212G>A	BC065227	CCDS11423.1	17q11.2	2014-09-17			ENSG00000173757	ENSG00000173757		"SH2 domain containing"	11367	protein-coding gene	gene with protein product		604260				8631883	Standard	NM_012448		Approved		uc002hzh.3	P51692	OTTHUMG00000150724	ENST00000293328.3:c.1883C>T	17.37:g.40362212G>A	ENSP00000293328:p.Thr628Ile						p.T628I	NM_012448.3	NP_036580.2	P51692	STA5B_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.135)	15	2051	-		all_cancers(22;4.15e-07)|all_epithelial(22;2.83e-05)|Breast(137;0.000143)	628			SH2.		Q8WWS8	Missense_Mutation	SNP	ENST00000293328.3	37	c.1883C>T	CCDS11423.1	.	.	.	.	.	.	.	.	.	.	G	33	5.284250	0.95517	.	.	ENSG00000173757	ENST00000293328	T	0.54675	0.56	5.44	5.44	0.79542	SH2 motif (4);	0.000000	0.85682	D	0.000000	T	0.74230	0.3689	M	0.76727	2.345	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.76066	-0.3095	10	0.87932	D	0	-1.0439	19.4568	0.94895	0.0:0.0:1.0:0.0	.	628	P51692	STA5B_HUMAN	I	628	ENSP00000293328:T628I	ENSP00000293328:T628I	T	-	2	0	STAT5B	37615738	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.461000	0.97646	2.832000	0.97577	0.655000	0.94253	ACC		0.428	STAT5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319797.1	NM_012448		3	86	0	0	0	0.115264	0	3	86					A	40362212	G	A	40362212	3	1	62	1	0	0	0	0	1	0	0	0	15268	1261	44	3	500	3	STAT5B	17	40362212	Missense_Mutation	SNP	G	TCGA-EJ-5514-01A-01D-1576-08	32785118	40362212	40832998	43	3190											
MRC2	9902	broad.mit.edu	37	chr17	60742200	60742200	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtccttgctcctgggggcccGcaccagcaacatatccaagc	8	7	10	16	1	0	0	0	0	0	0	3	0	3	0	5	2	4	3	5	2	3	2	rs370889422		TCGA-EJ-5514-01A-01D-1576-08	TCGA-EJ-5514-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f28f091d-5cd5-447f-b956-3ef7eb305fe2	7b498228-7d17-4b2e-b815-123ebfe1f366	g.chr17:60742200G>A	ENST00000303375.5	+	2	812	c.410G>A	c.(409-411)cGc>cAc	p.R137H		NM_006039.4	NP_006030.2	Q9UBG0	MRC2_HUMAN	mannose receptor, C type 2	137	Ricin B-type lectin. {ECO:0000255|PROSITE-ProRule:PRU00174}.				collagen catabolic process (GO:0030574)|endocytosis (GO:0006897)|osteoblast differentiation (GO:0001649)	focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)|collagen binding (GO:0005518)	p.R137H(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(11)|lung(28)|ovary(2)|prostate(1)|skin(3)	53						CTGGGGGCCCGCACCAGCAAC	0.617																																						ENST00000303375.5																			1	Substitution - Missense(1)	p.R137H(1)	large_intestine(1)	NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(11)|lung(28)|ovary(2)|prostate(1)|skin(3)	53						c.(409-411)cGc>cAc		mannose receptor, C type 2		G	HIS/ARG	0,4406		0,0,2203	59	55	57		410	3.7	0.9	17		57	1,8599	1.2+/-3.3	0,1,4299	no	missense	MRC2	NM_006039.3	29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging	137/1480	60742200	1,13005	2203	4300	6503	SO:0001583	missense	9902				endocytosis	integral to membrane	receptor activity|sugar binding	g.chr17:60742200G>A	AB014609	CCDS11634.1	17q23	2011-08-30				ENSG00000011028		"CD molecules", "C-type lectin domain containing"	16875	protein-coding gene	gene with protein product		612264				9734811, 8702911	Standard	NM_006039		Approved	KIAA0709, ENDO180, CLEC13E, CD280	uc002jad.4	Q9UBG0		ENST00000303375.5:c.410G>A	17.37:g.60742200G>A	ENSP00000307513:p.Arg137His						p.R137H	NM_006039.4	NP_006030.2	Q9UBG0	MRC2_HUMAN			2	812	+			137			Ricin B-type lectin.		A6H8K4|D3DU08|Q7LGE7|Q9Y5P9	Missense_Mutation	SNP	ENST00000303375.5	37	c.410G>A	CCDS11634.1	.	.	.	.	.	.	.	.	.	.	G	12.17	1.856718	0.32791	0.0	1.16E-4	ENSG00000011028	ENST00000303375	T	0.29917	1.55	4.7	3.66	0.41972	Ricin B-related lectin (1);Ricin B lectin (1);	0.389653	0.27172	N	0.020593	T	0.22704	0.0548	L	0.36672	1.1	0.58432	D	0.999996	D	0.53151	0.958	B	0.42214	0.38	T	0.01081	-1.1458	10	0.33141	T	0.24	-11.1172	9.8054	0.40791	0.1694:0.0:0.8306:0.0	.	137	Q9UBG0	MRC2_HUMAN	H	137	ENSP00000307513:R137H	ENSP00000307513:R137H	R	+	2	0	MRC2	58095932	0.986000	0.35501	0.928000	0.36995	0.282000	0.26991	2.048000	0.41278	2.450000	0.82876	0.561000	0.74099	CGC		0.617	MRC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445152.1			4	121	0	0	0	0.150653	0	4	121					A	60742200	G	A	60742200	3	1	62	1	0	0	0	0	1	0	0	0	9758	1087	38	1	416	1	MRC2	17	60742200	Missense_Mutation	SNP	G	TCGA-EJ-5514-01A-01D-1576-08	20379988	60742200	20453010	44	3191											
GGA3	23163	broad.mit.edu	37	chr17	73235138	73235138	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gatgcggaagccgtttttatCgtaggctgtcacaggaaggg	9	10	15	7	3	1	0	1	0	0	0	2	3	1	2	1	4	2	3	1	4	4	4	rs373320990		TCGA-EJ-5514-01A-01D-1576-08	TCGA-EJ-5514-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f28f091d-5cd5-447f-b956-3ef7eb305fe2	7b498228-7d17-4b2e-b815-123ebfe1f366	g.chr17:73235138C>T	ENST00000245541.6	-	15	2023	c.1807G>A	c.(1807-1809)Gat>Aat	p.D603N	GGA3_ENST00000582717.1_Missense_Mutation_p.D531N|GGA3_ENST00000538886.1_Missense_Mutation_p.D481N|GGA3_ENST00000578348.1_Missense_Mutation_p.D481N|GGA3_ENST00000351904.7_Missense_Mutation_p.D570N|GGA3_ENST00000582486.1_Missense_Mutation_p.D531N	NM_138619.2	NP_619525.1	Q9NZ52	GGA3_HUMAN	golgi-associated, gamma adaptin ear containing, ARF binding protein 3	603	GAE. {ECO:0000255|PROSITE- ProRule:PRU00093}.				intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	clathrin adaptor complex (GO:0030131)|endosome (GO:0005768)|trans-Golgi network (GO:0005802)	ADP-ribosylation factor binding (GO:0030306)	p.D603N(1)		breast(2)|endometrium(3)|large_intestine(4)|liver(1)|lung(4)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	20			all cancers(21;2.39e-06)|Epithelial(20;2.38e-05)			CCGTTTTTATCGTAGGCTGTC	0.592											OREG0024729	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C|||	1	0.000199681	0	0	5008	,	,		18285	0		0.001	False		,,,				2504	0					ENST00000245541.6																			1	Substitution - Missense(1)	p.D603N(1)	prostate(1)	breast(2)|endometrium(3)|large_intestine(4)|liver(1)|lung(4)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	20						c.(1807-1809)Gat>Aat		golgi-associated, gamma adaptin ear containing, ARF binding protein 3		C	ASN/ASP,ASN/ASP,ASN/ASP,ASN/ASP	0,4406		0,0,2203	84	60	68		1591,1441,1708,1807	5.2	1	17		68	1,8599		0,1,4299	no	missense,missense,missense,missense	GGA3	NM_001172703.1,NM_001172704.1,NM_014001.3,NM_138619.2	23,23,23,23	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging	531/652,481/593,570/691,603/724	73235138	1,13005	2203	4300	6503	SO:0001583	missense	23163				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|endosome membrane|trans-Golgi network	ADP-ribosylation factor binding	g.chr17:73235138C>T	AF190864	CCDS11716.1, CCDS11717.1, CCDS54164.1, CCDS58597.1	17q25	2010-02-12	2010-02-12			ENSG00000125447			17079	protein-coding gene	gene with protein product		606006				10747089, 10749927	Standard	NR_033345		Approved	KIAA0154	uc002jni.2	Q9NZ52		ENST00000245541.6:c.1807G>A	17.37:g.73235138C>T	ENSP00000245541:p.Asp603Asn		OREG0024729	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1143	GGA3_ENST00000582717.1_Missense_Mutation_p.D531N|GGA3_ENST00000582486.1_Missense_Mutation_p.D531N|GGA3_ENST00000538886.1_Missense_Mutation_p.D481N|GGA3_ENST00000578348.1_Missense_Mutation_p.D481N|GGA3_ENST00000351904.7_Missense_Mutation_p.D570N	p.D603N	NM_138619.2	NP_619525.1	Q9NZ52	GGA3_HUMAN	all cancers(21;2.39e-06)|Epithelial(20;2.38e-05)		15	2023	-			603			GAE.		B7Z7E2|B7Z7M9|J3KRN0|Q15017|Q6IS16|Q9UJY3	Missense_Mutation	SNP	ENST00000245541.6	37	c.1807G>A	CCDS11717.1	.	.	.	.	.	.	.	.	.	.	C	16.84	3.233057	0.58777	0.0	1.16E-4	ENSG00000125447	ENST00000245541;ENST00000351904;ENST00000537584;ENST00000538886	T;T;T	0.32753	1.44;1.44;1.44	5.24	5.24	0.73138	Coatomer/clathrin adaptor appendage, Ig-like subdomain (1);Clathrin adaptor, gamma-adaptin, appendage (2);Clathrin adaptor, alpha/beta/gamma-adaptin, appendage, Ig-like subdomain (2);	0.046837	0.85682	D	0.000000	T	0.54663	0.1872	M	0.64080	1.96	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.994;0.997	T	0.49428	-0.8941	10	0.42905	T	0.14	-15.6205	19.012	0.92877	0.0:1.0:0.0:0.0	.	481;570;603	B7Z7E2;Q9NZ52-2;Q9NZ52	.;.;GGA3_HUMAN	N	603;570;531;481	ENSP00000245541:D603N;ENSP00000326575:D570N;ENSP00000446421:D481N	ENSP00000245541:D603N	D	-	1	0	GGA3	70746733	1.000000	0.71417	1.000000	0.80357	0.652000	0.38707	7.651000	0.83577	2.724000	0.93272	0.563000	0.77884	GAT		0.592	GGA3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446645.1	NM_138619		7	27	0	0	0	0.411799	0	7	27					T	73235138	C	T	73235138	3	4	62	1	0	0	0	0	1	0	0	0	6354	884	31	2	464	2	GGA3	17	73235138	Missense_Mutation	SNP	C	TCGA-EJ-5514-01A-01D-1576-08	12492938	73235138	7960072	45	3192											
TRIM65	201292	broad.mit.edu	37	chr17	73887232	73887232	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	taggagacgcccagtgtcacCgagtggtctgacgcgcgcac	8	6	14	13	5	2	2	1	1	1	1	2	4	2	2	2	2	0	1	2	2	1	1			TCGA-EJ-5514-01A-01D-1576-08	TCGA-EJ-5514-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f28f091d-5cd5-447f-b956-3ef7eb305fe2	7b498228-7d17-4b2e-b815-123ebfe1f366	g.chr17:73887232C>T	ENST00000269383.3	-	6	1247	c.1182G>A	c.(1180-1182)tcG>tcA	p.S394S		NM_001256124.1|NM_173547.3	NP_001243053.1|NP_775818.2	Q6PJ69	TRI65_HUMAN	tripartite motif containing 65	394	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.					intracellular (GO:0005622)	zinc ion binding (GO:0008270)	p.S394S(1)		endometrium(1)|kidney(1)|lung(5)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	12			Epithelial(20;7.53e-06)|all cancers(21;9.11e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00092)|LUSC - Lung squamous cell carcinoma(166;0.154)			CCAGTGTCACCGAGTGGTCTG	0.692																																						ENST00000269383.3																			1	Substitution - coding silent(1)	p.S394S(1)	prostate(1)	endometrium(1)|kidney(1)|lung(5)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						c.(1180-1182)tcG>tcA		tripartite motif containing 65							42	43	43					17																	73887232		2201	4299	6500	SO:0001819	synonymous_variant	201292					intracellular	zinc ion binding	g.chr17:73887232C>T	BC006138	CCDS11732.1	17q25.1	2013-01-09	2011-01-25		ENSG00000141569	ENSG00000141569		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	27316	protein-coding gene	gene with protein product			"tripartite motif-containing 65"			12477932	Standard	NM_173547		Approved		uc002jpx.4	Q6PJ69	OTTHUMG00000132127	ENST00000269383.3:c.1182G>A	17.37:g.73887232C>T							p.S394S	NM_001256124.1|NM_173547.3	NP_001243053.1|NP_775818.2	Q6PJ69	TRI65_HUMAN	Epithelial(20;7.53e-06)|all cancers(21;9.11e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00092)|LUSC - Lung squamous cell carcinoma(166;0.154)		6	1247	-			394			B30.2/SPRY.		Q4G0F0|Q6DKJ6|Q9BRP6	Silent	SNP	ENST00000269383.3	37	c.1182G>A	CCDS11732.1	.	.	.	.	.	.	.	.	.	.	C	0.016	-1.515437	0.00975	.	.	ENSG00000141569	ENST00000543309	.	.	.	5.31	-10.6	0.00265	.	.	.	.	.	T	0.43787	0.1263	.	.	.	0.40726	D	0.982704	.	.	.	.	.	.	T	0.61153	-0.7120	4	.	.	.	.	6.8111	0.23805	0.2255:0.4057:0.3051:0.0638	.	.	.	.	Q	246	.	.	R	-	2	0	TRIM65	71398827	0.000000	0.05858	0.009000	0.14445	0.021000	0.10359	-6.965000	0.00048	-4.513000	0.00045	-2.302000	0.00260	CGG		0.692	TRIM65-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255170.2	NM_173547		4	88	0	0	0	0.150653	0	4	88					T	73887232	C	T	73887232	2	4	62	1	0	0	0	0	0	0	0	1	16536	639	23	2		2	TRIM65	17	73887232	Silent	SNP	C	TCGA-EJ-5514-01A-01D-1576-08	652094	73887232	7307978	46	3193											
GIPC3	126326	broad.mit.edu	37	chr19	3589510	3589510	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	agtgaccagcgggagggagaCcctgcggcttcgttctgggg	6	7	18	10	3	1	2	0	1	1	1	2	4	1	3	2	5	2	2	2	5	0	2			TCGA-EJ-5514-01A-01D-1576-08	TCGA-EJ-5514-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f28f091d-5cd5-447f-b956-3ef7eb305fe2	7b498228-7d17-4b2e-b815-123ebfe1f366	g.chr19:3589510C>A	ENST00000322315.5	+	4	707	c.662C>A	c.(661-663)aCc>aAc	p.T221N		NM_133261.2	NP_573568.1	Q8TF64	GIPC3_HUMAN	GIPC PDZ domain containing family, member 3	221			T -> I (in DFNB15). {ECO:0000269|PubMed:21660509}.					p.T221N(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	10				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0025)|STAD - Stomach adenocarcinoma(1328;0.18)		GGGAGGGAGACCCTGCGGCTT	0.612																																						ENST00000322315.5																			1	Substitution - Missense(1)	p.T221N(1)	prostate(1)	breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	10						c.(661-663)aCc>aAc		GIPC PDZ domain containing family, member 3							51	56	55					19																	3589510		2203	4300	6503	SO:0001583	missense	126326							g.chr19:3589510C>A	AB073738	CCDS32871.1	19p13.3	2011-11-29				ENSG00000179855			18183	protein-coding gene	gene with protein product		608792	"chromosome 19 open reading frame 64", "deafness, autosomal recessive 72", "deafness, autosomal recessive 15"	C19orf64, DFNB72, DFNB15		11836571, 21326233	Standard	NM_133261		Approved	DFNB95	uc002lyd.4	Q8TF64		ENST00000322315.5:c.662C>A	19.37:g.3589510C>A	ENSP00000319254:p.Thr221Asn						p.T221N	NM_133261.2	NP_573568.1	Q8TF64	GIPC3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0025)|STAD - Stomach adenocarcinoma(1328;0.18)	4	707	+			221					O75227	Missense_Mutation	SNP	ENST00000322315.5	37	c.662C>A	CCDS32871.1	.	.	.	.	.	.	.	.	.	.	C	23.9	4.474872	0.84640	.	.	ENSG00000179855	ENST00000322315	D	0.87179	-2.22	4.47	4.47	0.54385	.	0.000000	0.85682	D	0.000000	D	0.93357	0.7882	M	0.83312	2.635	0.80722	D	1	D	0.71674	0.998	D	0.76071	0.987	D	0.94404	0.7625	10	0.87932	D	0	-33.5991	14.6376	0.68702	0.0:1.0:0.0:0.0	.	221	Q8TF64	GIPC3_HUMAN	N	221	ENSP00000319254:T221N	ENSP00000319254:T221N	T	+	2	0	GIPC3	3540510	1.000000	0.71417	0.999000	0.59377	0.982000	0.71751	6.368000	0.73104	2.034000	0.60081	0.484000	0.47621	ACC		0.612	GIPC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394577.1	NM_133261		10	81	1	0	3.86212e-05	0.361761	4.63454e-05	10	81					A	3589510	C	A	3589510	3	1	62	1	0	0	0	0	1	0	0	0	6394	507	18	5	676	5	GIPC3	19	3589510	Missense_Mutation	SNP	C	TCGA-EJ-5514-01A-01D-1576-08		3589510	55539473	47	3194											
SAFB2	9667	broad.mit.edu	37	chr19	5598870	5598870	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cctttcgatttatccatcacGaccgtccgctccattcctct	6	14	4	17	4	2	0	1	0	1	0	7	2	6	0	6	0	0	1	6	0	1	4	rs149716077		TCGA-EJ-5514-01A-01D-1576-08	TCGA-EJ-5514-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f28f091d-5cd5-447f-b956-3ef7eb305fe2	7b498228-7d17-4b2e-b815-123ebfe1f366	g.chr19:5598870G>A	ENST00000252542.4	-	13	1980	c.1716C>T	c.(1714-1716)gtC>gtT	p.V572V	SAFB2_ENST00000591310.1_5'Flank	NM_014649.2	NP_055464.1	Q14151	SAFB2_HUMAN	scaffold attachment factor B2	572					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.V572V(1)		endometrium(3)|kidney(4)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				UCEC - Uterine corpus endometrioid carcinoma (162;0.000228)		TATCCATCACGACCGTCCGCT	0.507																																					Ovarian(127;888 1728 23957 44128 52668)	ENST00000252542.4																			1	Substitution - coding silent(1)	p.V572V(1)	prostate(1)	endometrium(3)|kidney(4)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(1714-1716)gtC>gtT		scaffold attachment factor B2							222	169	187					19																	5598870		2203	4300	6503	SO:0001819	synonymous_variant	9667				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|nucleotide binding|protein binding|RNA binding	g.chr19:5598870G>A	D50928	CCDS32879.1	19p13.3	2013-02-12				ENSG00000130254		"RNA binding motif (RRM) containing"	21605	protein-coding gene	gene with protein product		608066				12660241	Standard	NM_014649		Approved	KIAA0138	uc002mcd.3	Q14151		ENST00000252542.4:c.1716C>T	19.37:g.5598870G>A							p.V572V	NM_014649.2	NP_055464.1	Q14151	SAFB2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;0.000228)	13	1980	-			572					B4DKG3|Q8TB13	Silent	SNP	ENST00000252542.4	37	c.1716C>T	CCDS32879.1																																																																																				0.507	SAFB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451016.1	NM_014649		30	75	0	0	0	0.750413	0	30	75					A	5598870	G	A	5598870	2	1	62	1	0	0	0	0	0	0	0	1	13807	1045	37	2		2	SAFB2	19	5598870	Silent	SNP	G	TCGA-EJ-5514-01A-01D-1576-08	2009360	5598870	53530113	48	3195											
ZNF181	339318	broad.mit.edu	37	chr19	35232275	35232275	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tatgaactgtggaaagtcttTtagtcgtgtgtcccatctta	9	16	9	7	1	2	1	0	1	2	0	4	2	3	2	1	1	1	0	1	1	5	4			TCGA-EJ-5514-01A-01D-1576-08	TCGA-EJ-5514-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f28f091d-5cd5-447f-b956-3ef7eb305fe2	7b498228-7d17-4b2e-b815-123ebfe1f366	g.chr19:35232275T>C	ENST00000492450.1	+	4	1078	c.989T>C	c.(988-990)tTt>tCt	p.F330S	ZNF181_ENST00000459757.2_Missense_Mutation_p.F329S|ZNF181_ENST00000392232.3_Missense_Mutation_p.F374S			Q2M3W8	ZN181_HUMAN	zinc finger protein 181	330					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.F266S(1)		endometrium(6)|kidney(2)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|skin(1)	22	all_lung(56;1.13e-07)|Lung NSC(56;1.81e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.138)			GGAAAGTCTTTTAGTCGTGTG	0.398																																						ENST00000392232.3																			1	Substitution - Missense(1)	p.F266S(1)	prostate(1)	endometrium(6)|kidney(2)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|skin(1)	22						c.(1120-1122)tTt>tCt		zinc finger protein 181							82	81	81					19																	35232275		2203	4300	6503	SO:0001583	missense	339318				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:35232275T>C	BC104759, H54888	CCDS32990.2, CCDS46043.1	19q13.13	2013-01-08	2006-04-27		ENSG00000197841	ENSG00000197841		"Zinc fingers, C2H2-type", "-"	12971	protein-coding gene	gene with protein product		606741	"zinc finger protein 181 (HHZ181)"				Standard	NM_001029997		Approved	HHZ181, MGC44316	uc002nvu.3	Q2M3W8	OTTHUMG00000157508	ENST00000492450.1:c.989T>C	19.37:g.35232275T>C	ENSP00000420727:p.Phe330Ser					ZNF181_ENST00000492450.1_Missense_Mutation_p.F330S|ZNF181_ENST00000459757.1_Missense_Mutation_p.F329S	p.F374S			Q2M3W8	ZN181_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.138)		6	1289	+	all_lung(56;1.13e-07)|Lung NSC(56;1.81e-07)|Esophageal squamous(110;0.162)		330					B7ZKX3|Q49A75	Missense_Mutation	SNP	ENST00000492450.1	37	c.1121T>C	CCDS32990.2	.	.	.	.	.	.	.	.	.	.	T	17.07	3.295411	0.60086	.	.	ENSG00000197841	ENST00000392232;ENST00000425140;ENST00000492450;ENST00000459757	T;T;T	0.47869	0.83;0.83;0.83	2.99	2.99	0.34606	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.70622	0.3245	M	0.90019	3.08	0.37232	D	0.905749	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.78259	-0.2273	9	0.87932	D	0	.	9.7095	0.40236	0.0:0.0:0.0:1.0	.	329;330	B7ZKX3;Q2M3W8	.;ZN181_HUMAN	S	374;329;330;329	ENSP00000376065:F374S;ENSP00000420727:F330S;ENSP00000419435:F329S	ENSP00000376065:F374S	F	+	2	0	ZNF181	39924115	1.000000	0.71417	0.992000	0.48379	0.930000	0.56654	6.786000	0.75094	1.604000	0.50143	0.459000	0.35465	TTT		0.398	ZNF181-002	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000349005.3	NM_001029997		3	168	0	0	0	0.150653	0	3	168					C	35232275	T	C	35232275	3	2	62	1	0	0	0	0	1	0	0	0	17746	1841	64	4	1003	4	ZNF181	19	35232275	Missense_Mutation	SNP	T	TCGA-EJ-5514-01A-01D-1576-08	29633405	35232275	23896708	49	3196											
TRAPPC6A	79090	broad.mit.edu	37	chr19	45668125	45668125	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcccacctggtgattggtgcGcaggctgtccatctgcttct	4	13	11	13	1	2	1	0	1	2	0	4	1	4	1	3	3	2	3	3	3	0	2			TCGA-EJ-5514-01A-01D-1576-08	TCGA-EJ-5514-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f28f091d-5cd5-447f-b956-3ef7eb305fe2	7b498228-7d17-4b2e-b815-123ebfe1f366	g.chr19:45668125G>A	ENST00000585934.1	-	3	274	c.256C>T	c.(256-258)Cgc>Tgc	p.R86C	TRAPPC6A_ENST00000006275.4_Missense_Mutation_p.R100C|TRAPPC6A_ENST00000588062.1_Missense_Mutation_p.A63V|TRAPPC6A_ENST00000592647.1_Missense_Mutation_p.A77V	NM_001270891.1	NP_001257820.1	O75865	TPC6A_HUMAN	trafficking protein particle complex 6A	86					vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)		p.R100C(1)		autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|prostate(2)	8		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00872)|GBM - Glioblastoma multiforme(486;0.233)		TGATTGGTGCGCAGGCTGTCC	0.647																																						ENST00000006275.4																			1	Substitution - Missense(1)	p.R100C(1)	prostate(1)	autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|prostate(2)	8						c.(298-300)Cgc>Tgc		trafficking protein particle complex 6A							72	71	71					19																	45668125		2203	4300	6503	SO:0001583	missense	79090				vesicle-mediated transport	endoplasmic reticulum|Golgi apparatus	guanylate cyclase activity|heme binding	g.chr19:45668125G>A	AF161407	CCDS12655.1, CCDS59395.1, CCDS59396.1, CCDS59397.1	19q13.32	2012-10-02				ENSG00000007255		"Trafficking protein particle complex"	23069	protein-coding gene	gene with protein product		610396					Standard	NM_024108		Approved	TRS33, MGC2650, HSPC289	uc002pav.4	O75865		ENST00000585934.1:c.256C>T	19.37:g.45668125G>A	ENSP00000468612:p.Arg86Cys					TRAPPC6A_ENST00000592647.1_Missense_Mutation_p.A77V|TRAPPC6A_ENST00000588062.1_Missense_Mutation_p.A63V|TRAPPC6A_ENST00000585934.1_Missense_Mutation_p.R86C	p.R100C	NM_024108.1	NP_077013.1	O75865	TPC6A_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00872)|GBM - Glioblastoma multiforme(486;0.233)	3	316	-		all_neural(266;0.224)|Ovarian(192;0.231)	86	SFPLLLPMASGLQYLEEAPKFLAFT -> KLSPPPPDGLWP AVSGGSTQVPGLH (in Ref. 1; AAF28967).				K7ERB1|K7ERQ4|Q9BQ45|Q9P092	Missense_Mutation	SNP	ENST00000585934.1	37	c.298C>T	CCDS59397.1	.	.	.	.	.	.	.	.	.	.	g	13.98	2.397595	0.42512	.	.	ENSG00000007255	ENST00000006275	T	0.48201	0.82	4.78	-0.463	0.12164	NO signalling/Golgi transport  ligand-binding domain (1);	0.189735	0.43416	N	0.000564	T	0.64271	0.2583	M	0.88512	2.96	0.19575	N	0.999964	B;D	0.89917	0.065;1.0	B;D	0.66196	0.023;0.942	T	0.55023	-0.8205	10	0.87932	D	0	-10.5855	5.948	0.19229	0.0927:0.0:0.4266:0.4806	.	86;100	O75865;O75865-2	TPC6A_HUMAN;.	C	100	ENSP00000006275:R100C	ENSP00000006275:R100C	R	-	1	0	TRAPPC6A	50359965	0.734000	0.28142	0.174000	0.22961	0.467000	0.32768	0.873000	0.28052	0.059000	0.16252	-0.260000	0.10688	CGC		0.647	TRAPPC6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457556.1	NM_024108		4	158	0	0	0	0.184627	0	4	158					A	45668125	G	A	45668125	3	1	62	1	0	0	0	0	1	0	0	0	16460	1087	38	1	239	1	TRAPPC6A	19	45668125	Missense_Mutation	SNP	G	TCGA-EJ-5514-01A-01D-1576-08	10435850	45668125	13460858	50	3197											
ZNFX1	57169	broad.mit.edu	37	chr20	47864642	47864642	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgatgatttcaatctcttctAgccgctgttttatgctagtt	7	19	7	8	1	3	2	1	2	2	0	4	2	3	2	1	0	2	4	1	0	4	7			TCGA-EJ-5514-01A-01D-1576-08	TCGA-EJ-5514-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f28f091d-5cd5-447f-b956-3ef7eb305fe2	7b498228-7d17-4b2e-b815-123ebfe1f366	g.chr20:47864642A>G	ENST00000396105.1	-	14	5165	c.4919T>C	c.(4918-4920)cTa>cCa	p.L1640P	ZNFX1_ENST00000371752.1_Missense_Mutation_p.L1640P|ZNFX1_ENST00000371754.4_Intron	NM_021035.2	NP_066363.1	Q9P2E3	ZNFX1_HUMAN	zinc finger, NFX1-type containing 1	1640							metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.L1640P(2)		cervix(2)|endometrium(8)|kidney(7)|large_intestine(15)|liver(1)|lung(17)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	60			BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			AATCTCTTCTAGCCGCTGTTT	0.507																																						ENST00000396105.1																			2	Substitution - Missense(2)	p.L1640P(2)	prostate(2)	cervix(2)|endometrium(8)|kidney(7)|large_intestine(15)|liver(1)|lung(17)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	60						c.(4918-4920)cTa>cCa		zinc finger, NFX1-type containing 1							61	60	60					20																	47864642		2203	4300	6503	SO:0001583	missense	57169						metal ion binding	g.chr20:47864642A>G	AK022641	CCDS13417.1	20q13.13	2014-02-12			ENSG00000124201	ENSG00000124201			29271	protein-coding gene	gene with protein product						10718198	Standard	NM_021035		Approved	KIAA1404, FLJ11277	uc002xui.3	Q9P2E3	OTTHUMG00000032696	ENST00000396105.1:c.4919T>C	20.37:g.47864642A>G	ENSP00000379412:p.Leu1640Pro					ZNFX1_ENST00000371752.1_Missense_Mutation_p.L1640P|ZNFX1_ENST00000371754.4_Intron	p.L1640P	NM_021035.2	NP_066363.1	Q9P2E3	ZNFX1_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		14	5165	-			1640					Q9BQM7|Q9BQM8|Q9H8C1|Q9H9S2|Q9NUM1|Q9NWW1	Missense_Mutation	SNP	ENST00000396105.1	37	c.4919T>C	CCDS13417.1	.	.	.	.	.	.	.	.	.	.	A	17.48	3.400193	0.62177	.	.	ENSG00000124201	ENST00000371752;ENST00000396105	T;T	0.57595	0.39;0.39	6.04	6.04	0.98038	.	0.078488	0.53938	D	0.000055	T	0.70971	0.3285	M	0.65498	2.005	0.80722	D	1	D	0.89917	1.0	D	0.76071	0.987	T	0.73547	-0.3948	10	0.72032	D	0.01	-7.3466	15.4003	0.74834	1.0:0.0:0.0:0.0	.	1640	Q9P2E3	ZNFX1_HUMAN	P	1640	ENSP00000360817:L1640P;ENSP00000379412:L1640P	ENSP00000360817:L1640P	L	-	2	0	ZNFX1	47298049	1.000000	0.71417	0.995000	0.50966	0.984000	0.73092	9.283000	0.95860	2.317000	0.78254	0.459000	0.35465	CTA		0.507	ZNFX1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079647.2	NM_021035		42	82	0	0	0	0.847076	0	42	82					G	47864642	A	G	47864642	3	3	62	1	0	0	0	0	1	0	0	0	18202	420	15	4	841	4	ZNFX1	20	47864642	Missense_Mutation	SNP	A	TCGA-EJ-5514-01A-01D-1576-08		47864642	15160878	51	3198											
SHOX	6473	broad.mit.edu	37	chrX	601572	601572	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caaggtttggttccagaaccGgagagccaagtgccgcaaac	12	6	12	11	2	0	2	0	0	0	2	1	3	1	2	4	3	4	3	4	3	4	2			TCGA-EJ-5514-01A-01D-1576-08	TCGA-EJ-5514-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f28f091d-5cd5-447f-b956-3ef7eb305fe2	7b498228-7d17-4b2e-b815-123ebfe1f366	g.chrX:601572G>A	ENST00000554971.1	+	3	594	c.503G>A	c.(502-504)cGg>cAg	p.R168Q	SHOX_ENST00000381578.1_Missense_Mutation_p.R168Q|SHOX_ENST00000334060.3_Missense_Mutation_p.R168Q|SHOX_ENST00000381575.1_Missense_Mutation_p.R168Q			O15266	SHOX_HUMAN	short stature homeobox	168			R -> W (in LMD). {ECO:0000269|PubMed:11889214}.		skeletal system development (GO:0001501)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R168Q(1)		endometrium(3)|lung(9)|prostate(1)	13		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				TTCCAGAACCGGAGAGCCAAG	0.592																																					Ovarian(95;18 1419 12424 14056 28266)	ENST00000381578.1																			1	Substitution - Missense(1)	p.R168Q(1)	prostate(1)	endometrium(3)|lung(9)|prostate(1)	13	GRCh37	CM014908	SHOX	M		c.(502-504)cGg>cAg		short stature homeobox							155	165	161					X																	601572		2203	4296	6499	SO:0001583	missense	6473				skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chrX:601572G>A	U82668	CCDS14106.1, CCDS14107.1	Xp22.33 and Yp11.32	2014-07-16			ENSG00000185960	ENSG00000185960		"Pseudoautosomal regions / PAR1", "Homeoboxes / PRD class"	10853	protein-coding gene	gene with protein product		312865, 400020				9259282, 9140395	Standard	XR_247282		Approved	PHOG, GCFX, SS, SHOXY	uc004cph.1	O15266	OTTHUMG00000021053	ENST00000554971.1:c.503G>A	X.37:g.601572G>A	ENSP00000452016:p.Arg168Gln					SHOX_ENST00000334060.3_Missense_Mutation_p.R168Q|SHOX_ENST00000554971.1_Missense_Mutation_p.R168Q|SHOX_ENST00000381575.1_Missense_Mutation_p.R168Q	p.R168Q	NM_000451.3	NP_000442.1	O15266	SHOX_HUMAN			4	1194	+		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)	168		R -> W (in LMD).			O00412|O00413|O15267	Missense_Mutation	SNP	ENST00000554971.1	37	c.503G>A	CCDS14107.1	.	.	.	.	.	.	.	.	.	.	G	14.86	2.661595	0.47572	.	.	ENSG00000185960	ENST00000334060;ENST00000381578;ENST00000554971;ENST00000381575	D;D;D;D	0.97378	-4.36;-4.36;-4.36;-4.36	1.36	1.36	0.22044	Homeodomain-related (1);Helix-turn-helix motif, lambda-like repressor (1);Homeobox (3);Homeodomain-like (1);Homeobox, conserved site (1);	0.000000	0.85682	U	0.000000	D	0.98429	0.9477	M	0.93106	3.38	0.09310	N	0.999999	D;D	0.89917	0.997;1.0	D;D	0.77557	0.922;0.99	D	0.94127	0.7385	10	0.87932	D	0	.	11.1805	0.48625	0.0:0.0:1.0:0.0	.	168;168	O15266-2;O15266	.;SHOX_HUMAN	Q	168	ENSP00000335505:R168Q;ENSP00000370990:R168Q;ENSP00000452016:R168Q;ENSP00000370987:R168Q	ENSP00000335505:R168Q	R	+	2	0	SHOX	521572	1.000000	0.71417	0.987000	0.45799	0.576000	0.36127	7.194000	0.77789	0.723000	0.32274	0.115000	0.15696	CGG		0.592	SHOX-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411999.3	NM_000451		45	137	0	0	0	0.870114	0	45	137					A	601572	G	A	601572	3	1	62	1	0	0	0	0	1	0	0	0	14288	1116	39	2	513	2	SHOX	23	601572	Missense_Mutation	SNP	G	TCGA-EJ-5514-01A-01D-1576-08		601572	154668988	52	3199											
ZBED1	9189	broad.mit.edu	37	chrX	2407936	2407936	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agcagggagcacgccttcacGatgtccttgccatagttggt	8	10	12	11	2	1	0	1	0	0	0	2	2	2	1	3	2	3	3	3	2	1	4			TCGA-EJ-5514-01A-01D-1576-08	TCGA-EJ-5514-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f28f091d-5cd5-447f-b956-3ef7eb305fe2	7b498228-7d17-4b2e-b815-123ebfe1f366	g.chrX:2407936G>A	ENST00000381223.4	-	2	1028	c.825C>T	c.(823-825)atC>atT	p.I275I	DHRSX_ENST00000334651.5_Intron|ZBED1_ENST00000381222.2_Silent_p.I275I|ZBED1_ENST00000515319.1_5'Flank|ZBED1_ENST00000381218.3_Silent_p.I275I	NM_001171135.1|NM_001171136.1|NM_004729.3	NP_001164606.1|NP_001164607.1|NP_004720.1	O96006	ZBED1_HUMAN	zinc finger, BED-type containing 1	275					metabolic process (GO:0008152)	nuclear chromosome (GO:0000228)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|transposase activity (GO:0004803)	p.I275I(1)		endometrium(8)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	25		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				ACGCCTTCACGATGTCCTTGC	0.627																																						ENST00000381223.4																			1	Substitution - coding silent(1)	p.I275I(1)	prostate(1)	endometrium(8)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	25						c.(823-825)atC>atT		zinc finger, BED-type containing 1							125	111	116					X																	2407936		2203	4296	6499	SO:0001819	synonymous_variant	9189					nuclear chromosome	DNA binding|metal ion binding|protein dimerization activity|transposase activity	g.chrX:2407936G>A	AB018328	CCDS14118.1	Xp22.33 and Yp11	2013-05-03	2004-01-14	2004-01-16	ENSG00000214717	ENSG00000214717		"Pseudoautosomal regions / PAR1", "Zinc fingers, BED-type"	447	protein-coding gene	gene with protein product		300178	"Ac-like transposable element"	ALTE		9872452, 9887332, 23533661	Standard	NM_001171135		Approved	TRAMP, KIAA0785, DREF, hDREF	uc004cqh.2	O96006	OTTHUMG00000021069	ENST00000381223.4:c.825C>T	X.37:g.2407936G>A						DHRSX_ENST00000334651.5_Intron|ZBED1_ENST00000381222.2_Silent_p.I275I|ZBED1_ENST00000381218.3_Silent_p.I275I	p.I275I	NM_001171135.1|NM_001171136.1|NM_004729.3	NP_001164606.1|NP_001164607.1|NP_004720.1	O96006	ZBED1_HUMAN			2	1028	-		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)	275					Q96BY4	Silent	SNP	ENST00000381223.4	37	c.825C>T	CCDS14118.1																																																																																				0.627	ZBED1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000144310.3	NM_004729		72	189	0	0	0	0.870114	0	72	189					A	2407936	G	A	2407936	2	1	62	1	0	0	0	0	0	0	0	1	17514	1048	37	2		2	ZBED1	23	2407936	Silent	SNP	G	TCGA-EJ-5514-01A-01D-1576-08	1806364	2407936	152862624	53	3200											
CCDC22	28952	broad.mit.edu	37	chrX	49099406	49099406	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaaattcgggaccagctggCactgccttgggtcccgcccc	6	7	11	17	2	0	0	0	0	0	0	2	1	1	1	6	3	2	2	6	3	1	2			TCGA-EJ-5514-01A-01D-1576-08	TCGA-EJ-5514-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f28f091d-5cd5-447f-b956-3ef7eb305fe2	7b498228-7d17-4b2e-b815-123ebfe1f366	g.chrX:49099406C>A	ENST00000376227.3	+	4	586	c.416C>A	c.(415-417)gCa>gAa	p.A139E	CCDC22_ENST00000496651.1_3'UTR	NM_014008.3	NP_054727.1	O60826	CCD22_HUMAN	coiled-coil domain containing 22	139								p.A139E(2)		NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|prostate(2)|skin(1)	18						GACCAGCTGGCACTGCCTTGG	0.587																																						ENST00000376227.3																			2	Substitution - Missense(2)	p.A139E(2)	prostate(2)	NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|prostate(2)|skin(1)	18						c.(415-417)gCa>gAa		coiled-coil domain containing 22							52	41	45					X																	49099406		2202	4297	6499	SO:0001583	missense	28952							g.chrX:49099406C>A	BC000972	CCDS14322.1	Xp11.23	2008-02-05	2005-07-24	2005-07-24	ENSG00000101997	ENSG00000101997			28909	protein-coding gene	gene with protein product		300859	"chromosome X open reading frame 37"	CXorf37		12477932	Standard	NM_014008		Approved	JM1	uc004dnd.2	O60826	OTTHUMG00000024141	ENST00000376227.3:c.416C>A	X.37:g.49099406C>A	ENSP00000365401:p.Ala139Glu					CCDC22_ENST00000496651.1_3'UTR	p.A139E	NM_014008.3	NP_054727.1	O60826	CCD22_HUMAN			4	586	+			139					A8K7G1	Missense_Mutation	SNP	ENST00000376227.3	37	c.416C>A	CCDS14322.1	.	.	.	.	.	.	.	.	.	.	C	13.32	2.203243	0.38905	.	.	ENSG00000101997	ENST00000376227;ENST00000538876	.	.	.	5.02	4.15	0.48705	.	0.272597	0.36034	N	0.002829	T	0.47021	0.1423	L	0.42245	1.32	0.25592	N	0.986685	P;D	0.63880	0.77;0.993	B;D	0.63113	0.409;0.911	T	0.32798	-0.9893	9	0.10902	T	0.67	-2.1715	9.8843	0.41253	0.0:0.8991:0.0:0.1009	.	139;139	B4DLA4;O60826	.;CCD22_HUMAN	E	139	.	ENSP00000365401:A139E	A	+	2	0	CCDC22	48986350	0.972000	0.33761	0.918000	0.36340	0.275000	0.26752	2.319000	0.43788	0.910000	0.36722	0.464000	0.42555	GCA		0.587	CCDC22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060822.1	NM_014008		4	5	1	0	0.00909568	0.150653	0.00977446	4	5					A	49099406	C	A	49099406	3	1	62	1	0	0	0	0	1	0	0	0	2797	710	25	5	430	5	CCDC22	23	49099406	Missense_Mutation	SNP	C	TCGA-EJ-5514-01A-01D-1576-08	46691470	49099406	106171154	54	3201											
MID2	11043	broad.mit.edu	37	chrX	107159358	107159358	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggggttagattatttaacAggtgtgaaaatactgtgctt	12	14	12	3	0	0	2	0	1	0	1	0	3	0	2	0	3	3	2	0	3	6	6			TCGA-EJ-5514-01A-01D-1576-08	TCGA-EJ-5514-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f28f091d-5cd5-447f-b956-3ef7eb305fe2	7b498228-7d17-4b2e-b815-123ebfe1f366	g.chrX:107159358A>G	ENST00000262843.6	+	6	1748	c.1200A>G	c.(1198-1200)acA>acG	p.T400T	RP6-191P20.4_ENST00000430140.1_RNA|MID2_ENST00000443968.2_Splice_Site_p.T400T	NM_012216.3|NM_052817.2	NP_036348.2|NP_438112.2	Q9UJV3	TRIM1_HUMAN	midline 2	400	Fibronectin type-III.				innate immune response (GO:0045087)|negative regulation of viral entry into host cell (GO:0046597)|negative regulation of viral release from host cell (GO:1902187)|negative regulation of viral transcription (GO:0032897)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein localization to microtubule (GO:0035372)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)	ligase activity (GO:0016874)|microtubule binding (GO:0008017)|phosphoprotein binding (GO:0051219)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|zinc ion binding (GO:0008270)	p.T380T(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(2)	19						ATTATTTAACAGGTGTGAAAA	0.274																																						ENST00000262843.6																			1	Substitution - coding silent(1)	p.T380T(1)	prostate(1)	breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(2)	19						c.e6+1		midline 2							78	83	81					X																	107159358		2202	4295	6497	SO:0001630	splice_region_variant	11043					centrosome|microtubule	ligase activity|zinc ion binding	g.chrX:107159358A>G		CCDS14532.2, CCDS14533.2	Xq22.1-q22.2	2013-02-11			ENSG00000080561	ENSG00000080561		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers", "Fibronectin type III domain containing"	7096	protein-coding gene	gene with protein product		300204				10400986	Standard	NM_012216		Approved	FXY2, TRIM1, RNF60	uc004enl.3	Q9UJV3	OTTHUMG00000022171	ENST00000262843.6:c.1201+1A>G	X.37:g.107159358A>G						MID2_ENST00000443968.2_Splice_Site_p.T400_splice|RP6-191P20.4_ENST00000430140.1_RNA	p.T400_splice	NM_012216.3|NM_052817.2	NP_036348.2|NP_438112.2	Q9UJV3	TRIM1_HUMAN			6	1748	+			400			Fibronectin type-III.		A6NEL8|A6PVI5|Q5JYF5|Q8WWK1|Q9UJR9	Splice_Site	SNP	ENST00000262843.6	37	c.1201_splice	CCDS14532.2																																																																																				0.274	MID2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057852.2	NM_012216	Silent	3	196	0	0	0	0.150653	0	3	196					G	107159358	A	G	107159358	5	3	62	1	0	0	0	0	0	0	1	0	9578	202	7	4	1222	4	MID2	23	107159358	Splice_Site	SNP	A	TCGA-EJ-5514-01A-01D-1576-08	58059952	107159358	48111202	55	3202											
SPANXN1	494118	broad.mit.edu	37	chrX	144337274	144337274	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaatattcaacagtattagcGttttgctacaggaaagctaa	15	12	8	6	1	1	0	1	0	0	0	1	2	1	1	0	1	5	4	0	1	8	8			TCGA-EJ-5514-01A-01D-1576-08	TCGA-EJ-5514-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f28f091d-5cd5-447f-b956-3ef7eb305fe2	7b498228-7d17-4b2e-b815-123ebfe1f366	g.chrX:144337274G>T	ENST00000370493.3	+	2	918	c.159G>T	c.(157-159)gcG>gcT	p.A53A		NM_001009614.2	NP_001009614.1	Q5VSR9	SPXN1_HUMAN	SPANX family, member N1	53								p.A53A(4)		endometrium(2)|kidney(2)|lung(8)|prostate(1)|urinary_tract(1)	14	Acute lymphoblastic leukemia(192;6.56e-05)					CAGTATTAGCGTTTTGCTACA	0.433																																						ENST00000370493.3																			4	Substitution - coding silent(4)	p.A53A(4)	urinary_tract(2)|prostate(2)	endometrium(2)|kidney(2)|lung(8)|prostate(1)|urinary_tract(1)	14						c.(157-159)gcG>gcT		SPANX family, member N1							181	156	164					X																	144337274		2203	4297	6500	SO:0001819	synonymous_variant	494118							g.chrX:144337274G>T		CCDS35421.1	Xq27.3	2009-03-25				ENSG00000203923			33174	protein-coding gene	gene with protein product	"cancer/testis antigen family 11, member 6"	300664				14973187, 17012309	Standard	NM_001009614		Approved	SPANX-N1, CT11.6	uc004fcb.2	Q5VSR9		ENST00000370493.3:c.159G>T	X.37:g.144337274G>T							p.A53A	NM_001009614.2	NP_001009614.1	Q5VSR9	SPXN1_HUMAN			2	918	+	Acute lymphoblastic leukemia(192;6.56e-05)		53						Silent	SNP	ENST00000370493.3	37	c.159G>T	CCDS35421.1																																																																																				0.433	SPANXN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058631.2	NM_001009614		3	123	1	0	0.115264	0.115264	0.122044	3	123					T	144337274	G	T	144337274	2	4	62	1	0	0	0	0	0	0	0	1	14990	1132	40	5		5	SPANXN1	23	144337274	Silent	SNP	G	TCGA-EJ-5514-01A-01D-1576-08	37177916	144337274	10933286	56	3203											
SLFNL1	200172	broad.mit.edu	37	chr1	41483497	41483497	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ctactcccacgagcaggctgCcgccctcgctgttgaggaag	7	7	12	15	3	0	1	0	1	0	0	2	3	1	2	3	2	3	4	3	2	2	2			TCGA-EJ-5515-01A-01D-1576-08	TCGA-EJ-5515-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42d70e0-8083-4d69-a63f-2ae7331dd8f5	b1c94201-9a51-43a9-8d6c-75e8f0ef7420	g.chr1:41483497C>T	ENST00000359345.1	-	2	3343	c.767G>A	c.(766-768)gGc>gAc	p.G256D	SLFNL1_ENST00000397197.2_Missense_Mutation_p.G256D|SLFNL1_ENST00000372611.1_Missense_Mutation_p.G197D|SLFNL1_ENST00000302946.8_Missense_Mutation_p.G256D|SLFNL1_ENST00000372613.2_Missense_Mutation_p.G256D|SLFNL1_ENST00000439569.2_Missense_Mutation_p.G256D	NM_144990.3	NP_659427.3	Q499Z3	SLNL1_HUMAN	schlafen-like 1	256							ATP binding (GO:0005524)	p.G256D(1)		endometrium(3)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	10	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Breast(333;0.1)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0393)				GAGCAGGCTGCCGCCCTCGCT	0.667																																						ENST00000359345.1																			1	Substitution - Missense(1)	p.G256D(1)	prostate(1)	endometrium(3)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	10						c.(766-768)gGc>gAc		schlafen-like 1							49	47	48					1																	41483497		2203	4300	6503	SO:0001583	missense	200172						ATP binding	g.chr1:41483497C>T	BC022037	CCDS460.1, CCDS72766.1	1p34.2	2008-02-05			ENSG00000171790	ENSG00000171790			26313	protein-coding gene	gene with protein product							Standard	NM_144990		Approved	FLJ23878	uc001cgm.2	Q499Z3	OTTHUMG00000005719	ENST00000359345.1:c.767G>A	1.37:g.41483497C>T	ENSP00000352299:p.Gly256Asp					SLFNL1_ENST00000372611.1_Missense_Mutation_p.G197D|SLFNL1_ENST00000397197.2_Missense_Mutation_p.G256D|SLFNL1_ENST00000372613.2_Missense_Mutation_p.G256D|SLFNL1_ENST00000439569.2_Missense_Mutation_p.G256D|SLFNL1_ENST00000302946.8_Missense_Mutation_p.G256D	p.G256D	NM_144990.3	NP_659427.3	Q499Z3	SLNL1_HUMAN			2	3343	-	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Breast(333;0.1)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0393)	256					A8K8D1|Q49AG8|Q5VW72|Q5VW74|Q8N7V7|Q8TCH6|Q8WVZ8	Missense_Mutation	SNP	ENST00000359345.1	37	c.767G>A	CCDS460.1	.	.	.	.	.	.	.	.	.	.	C	18.28	3.588338	0.66105	.	.	ENSG00000171790	ENST00000302946;ENST00000372613;ENST00000372611;ENST00000359345;ENST00000439569;ENST00000397197	T;T;T;T;T;T	0.72167	-0.63;-0.63;-0.63;-0.63;-0.63;-0.63	5.42	5.42	0.78866	.	0.000000	0.64402	D	0.000005	D	0.88164	0.6363	H	0.94658	3.565	0.44417	D	0.997336	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.99;0.997	D	0.91063	0.4887	10	0.87932	D	0	-43.0178	14.7245	0.69332	0.0:1.0:0.0:0.0	.	256;197;256	Q499Z3-3;Q499Z3-2;Q499Z3	.;.;SLNL1_HUMAN	D	256;256;197;256;256;256	ENSP00000304401:G256D;ENSP00000361696:G256D;ENSP00000361694:G197D;ENSP00000352299:G256D;ENSP00000398938:G256D;ENSP00000380381:G256D	ENSP00000304401:G256D	G	-	2	0	SLFNL1	41256084	1.000000	0.71417	1.000000	0.80357	0.232000	0.25224	5.271000	0.65553	2.539000	0.85634	0.561000	0.74099	GGC		0.667	SLFNL1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000015650.1	NM_144990		3	50	0	0	0	1	0	3	50					T	41483497	C	T	41483497	3	4	63	1	0	0	0	0	1	0	0	0	14738	739	26	3	468	3	SLFNL1	1	41483497	Missense_Mutation	SNP	C	TCGA-EJ-5515-01A-01D-1576-08		41483497	207767124	1	3204											
DPH2	1802	broad.mit.edu	37	chr1	44437269	44437269	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctgacccagaccttgaccCagacctgagtcggctgctct	7	8	9	17	1	1	5	0	3	1	2	2	5	1	5	5	1	1	2	5	1	0	1			TCGA-EJ-5515-01A-01D-1576-08	TCGA-EJ-5515-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42d70e0-8083-4d69-a63f-2ae7331dd8f5	b1c94201-9a51-43a9-8d6c-75e8f0ef7420	g.chr1:44437269C>G	ENST00000255108.3	+	4	867	c.695C>G	c.(694-696)cCa>cGa	p.P232R	DPH2_ENST00000412950.2_Missense_Mutation_p.P97R|DPH2_ENST00000396758.2_Intron|DPH2_ENST00000529729.1_3'UTR	NM_001384.4	NP_001375.2	Q9BQC3	DPH2_HUMAN	DPH2 homolog (S. cerevisiae)	232					peptidyl-diphthamide biosynthetic process from peptidyl-histidine (GO:0017183)	cytoplasm (GO:0005737)				autonomic_ganglia(1)|kidney(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(2)|skin(1)	19	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)				GACCTTGACCCAGACCTGAGT	0.622																																						ENST00000255108.3																			0				autonomic_ganglia(1)|kidney(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(2)|skin(1)	19						c.(694-696)cCa>cGa		DPH2 homolog (S. cerevisiae)							69	72	71					1																	44437269		2203	4300	6503	SO:0001583	missense	1802				peptidyl-diphthamide biosynthetic process from peptidyl-histidine	cytoplasm		g.chr1:44437269C>G	AF053003	CCDS504.1, CCDS41314.1	1p34	2008-02-05	2005-06-03	2005-06-03	ENSG00000132768	ENSG00000132768			3004	protein-coding gene	gene with protein product		603456	"diptheria toxin resistance protein required for diphthamide biosynthesis-like 2 (S. cerevisiae)", "DPH2-like 2 (S. cerevisiae)"	DPH2L2		9782084, 15485916	Standard	XM_005270559		Approved		uc001ckz.3	Q9BQC3	OTTHUMG00000008295	ENST00000255108.3:c.695C>G	1.37:g.44437269C>G	ENSP00000255108:p.Pro232Arg					DPH2_ENST00000396758.2_Intron|DPH2_ENST00000412950.2_Missense_Mutation_p.P97R|DPH2_ENST00000529729.1_3'UTR	p.P232R	NM_001384.4	NP_001375.2	Q9BQC3	DPH2_HUMAN			4	867	+	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)	232					A8MVC9|B2RDE3|B4DNI8|O60623	Missense_Mutation	SNP	ENST00000255108.3	37	c.695C>G	CCDS504.1	.	.	.	.	.	.	.	.	.	.	C	14.15	2.449523	0.43531	.	.	ENSG00000132768	ENST00000255108;ENST00000412950	.	.	.	4.61	4.61	0.57282	.	0.183485	0.49305	D	0.000149	T	0.42585	0.1209	N	0.14661	0.345	0.36964	D	0.893492	D;D	0.71674	0.996;0.998	P;P	0.60789	0.862;0.879	T	0.43261	-0.9402	8	.	.	.	-12.1396	8.0092	0.30342	0.0:0.7753:0.0:0.2247	.	97;232	B4DNI8;Q9BQC3	.;DPH2_HUMAN	R	232;97	.	.	P	+	2	0	DPH2	44209856	1.000000	0.71417	0.804000	0.32291	0.662000	0.39071	2.479000	0.45197	2.381000	0.81170	0.552000	0.68991	CCA		0.622	DPH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022832.1	NM_001384		4	141	0	0	0	1	0	4	141					G	44437269	C	G	44437269	3	3	63	1	0	0	0	0	1	0	0	0	4720	594	21	5	709	5	DPH2	1	44437269	Missense_Mutation	SNP	C	TCGA-EJ-5515-01A-01D-1576-08	2953772	44437269	204813352	2	3205											
SYT11	23208	broad.mit.edu	37	chr1	155838359	155838359	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acggcatcgggtgaagaccaGagtgctgcggaagaccctgg	10	5	16	10	3	0	4	0	1	0	3	1	5	0	5	2	4	2	2	2	4	2	0			TCGA-EJ-5515-01A-01D-1576-08	TCGA-EJ-5515-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42d70e0-8083-4d69-a63f-2ae7331dd8f5	b1c94201-9a51-43a9-8d6c-75e8f0ef7420	g.chr1:155838359G>C	ENST00000368324.4	+	2	891	c.638G>C	c.(637-639)aGa>aCa	p.R213T	SYT11_ENST00000539162.1_Intron	NM_152280.4	NP_689493.3	Q9BT88	SYT11_HUMAN	synaptotagmin XI	213	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.				negative regulation of neurotransmitter secretion (GO:0046929)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|synaptic vesicle (GO:0008021)	metal ion binding (GO:0046872)|transporter activity (GO:0005215)	p.R213T(1)		breast(2)|central_nervous_system(1)|endometrium(1)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;0.000162)			GTGAAGACCAGAGTGCTGCGG	0.572																																						ENST00000368324.4																			1	Substitution - Missense(1)	p.R213T(1)	prostate(1)	breast(2)|central_nervous_system(1)|endometrium(1)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						c.(637-639)aGa>aCa		synaptotagmin XI							106	90	96					1																	155838359		2203	4300	6503	SO:0001583	missense	23208					cell junction|synaptic vesicle membrane	protein binding|transporter activity	g.chr1:155838359G>C	D38522	CCDS1122.1	1q22	2013-01-21			ENSG00000132718	ENSG00000132718		"Synaptotagmins"	19239	protein-coding gene	gene with protein product		608741				11543631	Standard	NM_152280		Approved	KIAA0080, MGC10881, MGC17226, DKFZp781D015	uc001fmg.3	Q9BT88	OTTHUMG00000014105	ENST00000368324.4:c.638G>C	1.37:g.155838359G>C	ENSP00000357307:p.Arg213Thr					SYT11_ENST00000539162.1_Intron	p.R213T	NM_152280.4	NP_689493.3	Q9BT88	SYT11_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;0.000162)		2	891	+	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		213			C2 1.		Q14998|Q5W0D4|Q68CT5|Q8IXU3|Q96SU2	Missense_Mutation	SNP	ENST00000368324.4	37	c.638G>C	CCDS1122.1	.	.	.	.	.	.	.	.	.	.	G	32	5.106386	0.94292	.	.	ENSG00000132718	ENST00000368324	T	0.71579	-0.58	5.97	5.97	0.96955	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	T	0.81384	0.4811	M	0.63428	1.95	0.80722	D	1	D	0.76494	0.999	D	0.91635	0.999	T	0.81551	-0.0881	10	0.87932	D	0	.	20.0189	0.97489	0.0:0.0:1.0:0.0	.	213	Q9BT88	SYT11_HUMAN	T	213	ENSP00000357307:R213T	ENSP00000357307:R213T	R	+	2	0	SYT11	154104983	1.000000	0.71417	0.995000	0.50966	0.998000	0.95712	9.835000	0.99442	2.828000	0.97474	0.655000	0.94253	AGA		0.572	SYT11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039597.1	NM_152280		3	76	0	0	0	1	0	3	76					C	155838359	G	C	155838359	3	2	63	1	0	0	0	0	1	0	0	0	15464	942	33	5	644	5	SYT11	1	155838359	Missense_Mutation	SNP	G	TCGA-EJ-5515-01A-01D-1576-08	111401090	155838359	93412262	3	3206											
KIRREL	55243	broad.mit.edu	37	chr1	158063224	158063224	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggtattcttcctctaccggCgccgcaaaggcagtgagtat	8	11	11	11	3	2	1	0	1	2	0	3	1	3	1	3	3	1	4	3	3	4	5			TCGA-EJ-5515-01A-01D-1576-08	TCGA-EJ-5515-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42d70e0-8083-4d69-a63f-2ae7331dd8f5	b1c94201-9a51-43a9-8d6c-75e8f0ef7420	g.chr1:158063224C>A	ENST00000359209.6	+	12	1634	c.1567C>A	c.(1567-1569)Cgc>Agc	p.R523S	KIRREL_ENST00000368173.3_Missense_Mutation_p.R539S|KIRREL_ENST00000368172.1_Missense_Mutation_p.R337S|KIRREL_ENST00000416935.2_Missense_Mutation_p.R423S|KIRREL_ENST00000392272.2_Missense_Mutation_p.R420S|KIRREL_ENST00000360089.4_Missense_Mutation_p.R359S			Q96J84	KIRR1_HUMAN	kin of IRRE like (Drosophila)	523					excretion (GO:0007588)|negative regulation of protein phosphorylation (GO:0001933)|positive regulation of actin filament polymerization (GO:0030838)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|dendritic shaft (GO:0043198)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	myosin binding (GO:0017022)	p.R359S(1)|p.R539S(1)		NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(5)|skin(3)|stomach(1)	38	all_hematologic(112;0.0378)					CCTCTACCGGCGCCGCAAAGG	0.602																																						ENST00000368172.1																			2	Substitution - Missense(2)	p.R359S(1)|p.R539S(1)	prostate(2)	NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(5)|skin(3)|stomach(1)	38						c.(1009-1011)Cgc>Agc		kin of IRRE like (Drosophila)							126	124	125					1																	158063224		2203	4300	6503	SO:0001583	missense	55243					integral to membrane		g.chr1:158063224C>A	AK001707	CCDS1172.2, CCDS72952.1	1q21-q25	2013-01-29			ENSG00000183853	ENSG00000183853		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	15734	protein-coding gene	gene with protein product	"nephrin-like protein 1"	607428				12424224	Standard	NM_001286349		Approved	NEPH1	uc001frn.4	Q96J84	OTTHUMG00000022438	ENST00000359209.6:c.1567C>A	1.37:g.158063224C>A	ENSP00000352138:p.Arg523Ser					KIRREL_ENST00000392272.2_Missense_Mutation_p.R420S|KIRREL_ENST00000359209.6_Missense_Mutation_p.R523S|KIRREL_ENST00000416935.2_Missense_Mutation_p.R423S|KIRREL_ENST00000360089.4_Missense_Mutation_p.R359S|KIRREL_ENST00000368173.3_Missense_Mutation_p.R539S	p.R337S			Q96J84	KIRR1_HUMAN			8	1021	+	all_hematologic(112;0.0378)		523			Ig-like C2-type 4.		Q5W0F8|Q5XKC6|Q7Z696|Q7Z7N8|Q8TB15|Q9H9N1|Q9NVA5	Missense_Mutation	SNP	ENST00000359209.6	37	c.1009C>A	CCDS1172.2	.	.	.	.	.	.	.	.	.	.	C	33	5.246616	0.95305	.	.	ENSG00000183853	ENST00000360089;ENST00000368173;ENST00000392272;ENST00000359209;ENST00000416935;ENST00000368172	T;T;T;T;T;T	0.71461	0.36;-0.57;0.03;-0.22;-0.15;0.22	5.71	5.71	0.89125	.	0.000000	0.44097	D	0.000496	T	0.74473	0.3721	L	0.58101	1.795	0.58432	D	0.999992	D;D;D;D	0.60575	0.988;0.974;0.967;0.967	P;P;P;P	0.58172	0.834;0.553;0.471;0.471	T	0.74375	-0.3686	10	0.48119	T	0.1	-22.1428	17.337	0.87285	0.0:1.0:0.0:0.0	.	423;359;337;523	B4DN67;Q5W0F9;Q5W0G0;Q96J84	.;.;.;KIRR1_HUMAN	S	359;539;420;523;423;337	ENSP00000353202:R359S;ENSP00000357155:R539S;ENSP00000376098:R420S;ENSP00000352138:R523S;ENSP00000389674:R423S;ENSP00000357154:R337S	ENSP00000352138:R523S	R	+	1	0	KIRREL	156329848	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.272000	0.78516	2.692000	0.91855	0.491000	0.48974	CGC		0.602	KIRREL-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058342.3	NM_018240		3	92	1	0	1	1	1	3	92					A	158063224	C	A	158063224	3	1	63	1	0	0	0	0	1	0	0	0	8324	768	27	5	1613	5	KIRREL	1	158063224	Missense_Mutation	SNP	C	TCGA-EJ-5515-01A-01D-1576-08	2224865	158063224	91187397	4	3207											
RBBP5	5929	broad.mit.edu	37	chr1	205072996	205072996	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	taggcttaccttgccttttgCgtttcccgtataaatatatt	8	18	6	9	2	0	0	0	0	0	0	1	0	1	0	3	1	3	3	3	1	7	11			TCGA-EJ-5515-01A-01D-1576-08	TCGA-EJ-5515-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42d70e0-8083-4d69-a63f-2ae7331dd8f5	b1c94201-9a51-43a9-8d6c-75e8f0ef7420	g.chr1:205072996C>T	ENST00000264515.6	-	5	652	c.511G>A	c.(511-513)Gca>Aca	p.A171T	RBBP5_ENST00000484379.1_5'Flank|RBBP5_ENST00000367164.1_Missense_Mutation_p.A171T	NM_001193273.1|NM_005057.3	NP_001180202.1|NP_005048.2	Q15291	RBBP5_HUMAN	retinoblastoma binding protein 5	171					cellular response to DNA damage stimulus (GO:0006974)|histone H3-K4 methylation (GO:0051568)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|MLL1 complex (GO:0071339)|nucleolus (GO:0005730)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)	methylated histone binding (GO:0035064)|transcription regulatory region DNA binding (GO:0044212)			cervix(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	27	Breast(84;0.0505)		BRCA - Breast invasive adenocarcinoma(75;0.0923)			TTGCCTTTTGCGTTTCCCGTA	0.388																																						ENST00000264515.6																			0				cervix(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	27						c.(511-513)Gca>Aca		retinoblastoma binding protein 5							189	185	186					1																	205072996		2203	4300	6503	SO:0001583	missense	5929				histone H3-K4 methylation|regulation of transcription, DNA-dependent|response to estrogen stimulus|transcription, DNA-dependent	MLL1 complex|Set1C/COMPASS complex	methylated histone residue binding|transcription regulatory region DNA binding	g.chr1:205072996C>T	BC053856	CCDS30983.1, CCDS53463.1	1q32	2013-01-10	2001-11-28		ENSG00000117222	ENSG00000117222		"WD repeat domain containing"	9888	protein-coding gene	gene with protein product	"SWD1, Set1c WD40 repeat protein, homolog (S. cerevisiae)"	600697	"retinoblastoma-binding protein 5"			7558034	Standard	NM_005057		Approved	RBQ3, SWD1	uc001hbu.2	Q15291	OTTHUMG00000037104	ENST00000264515.6:c.511G>A	1.37:g.205072996C>T	ENSP00000264515:p.Ala171Thr					RBBP5_ENST00000367164.1_Missense_Mutation_p.A171T	p.A171T	NM_001193273.1|NM_005057.3	NP_001180202.1|NP_005048.2	Q15291	RBBP5_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.0923)		5	652	-	Breast(84;0.0505)		171					A8K272|Q7Z6D8|Q8NDZ7	Missense_Mutation	SNP	ENST00000264515.6	37	c.511G>A	CCDS30983.1	.	.	.	.	.	.	.	.	.	.	C	26.2	4.715176	0.89112	.	.	ENSG00000117222	ENST00000264515;ENST00000367164	T;T	0.23147	1.92;1.92	6.14	6.14	0.99180	WD40/YVTN repeat-like-containing domain (1);	0.091941	0.85682	D	0.000000	T	0.32102	0.0818	L	0.58302	1.8	0.80722	D	1	P;B;B;P	0.50617	0.937;0.098;0.116;0.494	B;B;B;B	0.42386	0.386;0.032;0.031;0.079	T	0.01570	-1.1322	10	0.30854	T	0.27	.	20.4548	0.99139	0.0:1.0:0.0:0.0	.	44;206;171;171	B4DLF8;B4DMM7;Q15291-2;Q15291	.;.;.;RBBP5_HUMAN	T	171	ENSP00000264515:A171T;ENSP00000356132:A171T	ENSP00000264515:A171T	A	-	1	0	RBBP5	203339619	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.368000	0.79567	2.937000	0.99478	0.650000	0.86243	GCA		0.388	RBBP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090077.1	NM_005057		4	153	0	0	0	1	0	4	153					T	205072996	C	T	205072996	3	4	63	1	0	0	0	0	1	0	0	0	13102	768	27	1	1145	1	RBBP5	1	205072996	Missense_Mutation	SNP	C	TCGA-EJ-5515-01A-01D-1576-08	47009772	205072996	44177625	5	3208											
EIF5B	9669	broad.mit.edu	37	chr2	99985894	99985894	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgtgctgctgtagaagttaTggaacaaggagtaccagaaa	15	9	12	5	0	0	2	0	0	0	2	0	4	0	4	1	2	4	5	1	2	7	3			TCGA-EJ-5515-01A-01D-1576-08	TCGA-EJ-5515-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42d70e0-8083-4d69-a63f-2ae7331dd8f5	b1c94201-9a51-43a9-8d6c-75e8f0ef7420	g.chr2:99985894T>C	ENST00000289371.6	+	8	1629	c.1427T>C	c.(1426-1428)aTg>aCg	p.M476T		NM_015904.3	NP_056988.3	O60841	IF2P_HUMAN	eukaryotic translation initiation factor 5B	476					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|regulation of translational initiation (GO:0006446)|translation (GO:0006412)|translational initiation (GO:0006413)	cytosol (GO:0005829)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|translation initiation factor activity (GO:0003743)	p.M476T(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						GTAGAAGTTATGGAACAAGGA	0.353																																					Colon(162;2388 2567 2705 3444)	ENST00000289371.5																			1	Substitution - Missense(1)	p.M476T(1)	prostate(1)	breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						c.(1426-1428)aTg>aCg		eukaryotic translation initiation factor 5B							107	104	105					2																	99985894		1843	4085	5928	SO:0001583	missense	9669				regulation of translational initiation	cytosol	GTP binding|GTPase activity|protein binding|translation initiation factor activity	g.chr2:99985894T>C	AF078035	CCDS42721.1	2q11.2	2012-09-20			ENSG00000158417	ENSG00000158417			30793	protein-coding gene	gene with protein product	"translation initiation factor IF2"	606086				10200264, 10432305	Standard	XM_005264075		Approved	IF2, KIAA0741, DKFZp434I036, FLJ10524	uc002tab.3	O60841	OTTHUMG00000153242	ENST00000289371.6:c.1427T>C	2.37:g.99985894T>C	ENSP00000289371:p.Met476Thr						p.M476T	NM_015904.3	NP_056988.3	O60841	IF2P_HUMAN			8	1629	+			476					O95805|Q53RV7|Q53SI8|Q9UF81|Q9UMN7	Missense_Mutation	SNP	ENST00000289371.6	37	c.1427T>C	CCDS42721.1	.	.	.	.	.	.	.	.	.	.	t	0.009	-1.845796	0.00568	.	.	ENSG00000158417	ENST00000289371	T	0.39592	1.07	5.77	0.217	0.15264	.	.	.	.	.	T	0.18002	0.0432	N	0.03608	-0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.27640	-1.0068	8	.	.	.	-1.0E-4	9.624	0.39739	0.0:0.322:0.0:0.678	.	476	O60841	IF2P_HUMAN	T	476	ENSP00000289371:M476T	.	M	+	2	0	EIF5B	99352326	0.197000	0.23362	0.003000	0.11579	0.062000	0.15995	0.614000	0.24314	0.119000	0.18210	-0.971000	0.02607	ATG		0.353	EIF5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330364.2	NM_015904		7	62	0	0	0	1	0	7	62					C	99985894	T	C	99985894	3	2	63	1	0	0	0	0	1	0	0	0	5044	1464	51	4	1457	4	EIF5B	2	99985894	Missense_Mutation	SNP	T	TCGA-EJ-5515-01A-01D-1576-08		99985894	143213479	6	3209											
SLC6A18	348932	broad.mit.edu	37	chr5	1239617	1239617	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggacgcagccacccagatatTcttctctctgtccctggcct	6	11	8	16	1	3	1	0	0	3	1	5	2	4	2	4	2	1	1	4	2	1	3			TCGA-EJ-5515-01A-01D-1576-08	TCGA-EJ-5515-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42d70e0-8083-4d69-a63f-2ae7331dd8f5	b1c94201-9a51-43a9-8d6c-75e8f0ef7420	g.chr5:1239617T>C	ENST00000324642.3	+	6	908	c.785T>C	c.(784-786)tTc>tCc	p.F262S	SLC6A18_ENST00000296821.4_Missense_Mutation_p.F257S	NM_182632.2	NP_872438.2	Q96N87	S6A18_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 18	262					amino acid transmembrane transport (GO:0003333)|amino acid transport (GO:0006865)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	brush border membrane (GO:0031526)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neurotransmitter:sodium symporter activity (GO:0005328)			endometrium(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(4)|upper_aerodigestive_tract(1)	34	all_cancers(3;2.99e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.76e-10)		Epithelial(17;0.000356)|all cancers(22;0.00124)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			ACCCAGATATTCTTCTCTCTG	0.572																																						ENST00000324642.3																			0				endometrium(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(4)|upper_aerodigestive_tract(1)	34						c.(784-786)tTc>tCc		solute carrier family 6 (neutral amino acid transporter), member 18							113	113	113					5																	1239617		2203	4300	6503	SO:0001583	missense	348932				cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity	g.chr5:1239617T>C	AK055798	CCDS3860.1	5p15	2013-07-19	2013-07-19		ENSG00000164363	ENSG00000164363		"Solute carriers"	26441	protein-coding gene	gene with protein product		610300	"solute carrier family 6 (neurotransmitter transporter), member 18", "solute carrier family 6, member 18"			19478081	Standard	NM_182632		Approved	FLJ31236, Xtrp2	uc003jby.2	Q96N87	OTTHUMG00000090356	ENST00000324642.3:c.785T>C	5.37:g.1239617T>C	ENSP00000323549:p.Phe262Ser					SLC6A18_ENST00000296821.4_Missense_Mutation_p.F257S	p.F262S	NM_182632.2	NP_872438.2	Q96N87	S6A18_HUMAN	Epithelial(17;0.000356)|all cancers(22;0.00124)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)		6	908	+	all_cancers(3;2.99e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.76e-10)		262						Missense_Mutation	SNP	ENST00000324642.3	37	c.785T>C	CCDS3860.1	.	.	.	.	.	.	.	.	.	.	T	25.0	4.588982	0.86851	.	.	ENSG00000164363	ENST00000324642;ENST00000296821	T;T	0.81247	-1.47;-1.47	4.31	4.31	0.51392	.	0.000000	0.85682	D	0.000000	D	0.92648	0.7664	H	0.96604	3.85	0.50813	D	0.999892	D	0.89917	1.0	D	0.97110	1.0	D	0.94582	0.7780	10	0.87932	D	0	.	13.1311	0.59382	0.0:0.0:0.0:1.0	.	262	Q96N87	S6A18_HUMAN	S	262;257	ENSP00000323549:F262S;ENSP00000296821:F257S	ENSP00000296821:F257S	F	+	2	0	SLC6A18	1292617	1.000000	0.71417	0.993000	0.49108	0.956000	0.61745	7.450000	0.80656	1.588000	0.49971	0.454000	0.30748	TTC		0.572	SLC6A18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206728.3	NM_182632		3	150	0	0	0	1	0	3	150					C	1239617	T	C	1239617	3	2	63	1	0	0	0	0	1	0	0	0	14681	1783	62	4	807	4	SLC6A18	5	1239617	Missense_Mutation	SNP	T	TCGA-EJ-5515-01A-01D-1576-08		1239617	179675643	7	3210											
FZD9	8326	broad.mit.edu	37	chr7	72849476	72849476	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgaccctgcgcaaggtggCgggtgatgagctgactgggc	6	7	17	11	2	0	4	0	4	0	0	0	4	0	4	2	4	2	2	2	4	1	0			TCGA-EJ-5515-01A-01D-1576-08	TCGA-EJ-5515-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42d70e0-8083-4d69-a63f-2ae7331dd8f5	b1c94201-9a51-43a9-8d6c-75e8f0ef7420	g.chr7:72849476C>T	ENST00000344575.3	+	1	1368	c.1139C>T	c.(1138-1140)gCg>gTg	p.A380V		NM_003508.2	NP_003499.1	O00144	FZD9_HUMAN	frizzled class receptor 9	380					B cell differentiation (GO:0030183)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|gonad development (GO:0008406)|learning or memory (GO:0007611)|nervous system development (GO:0007399)|neuroblast proliferation (GO:0007405)|vasculature development (GO:0001944)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)	p.A380V(1)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(4)|prostate(2)|skin(1)	14		Lung NSC(55;0.0659)|all_lung(88;0.152)				CGCAAGGTGGCGGGTGATGAG	0.667																																					Pancreas(144;909 1878 36867 38226 39554)	ENST00000344575.3																			1	Substitution - Missense(1)	p.A380V(1)	prostate(1)	central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(4)|prostate(2)|skin(1)	14						c.(1138-1140)gCg>gTg		frizzled family receptor 9							45	43	44					7																	72849476		2203	4299	6502	SO:0001583	missense	8326				B cell differentiation|brain development|canonical Wnt receptor signaling pathway|embryo development|gonad development|neuroblast proliferation|vasculature development	cell surface|filopodium membrane|integral to membrane|perinuclear region of cytoplasm	G-protein coupled receptor activity|PDZ domain binding|protein heterodimerization activity|protein homodimerization activity|Wnt receptor activity|Wnt-protein binding	g.chr7:72849476C>T	U82169	CCDS5548.1	7q11.23	2014-01-29	2014-01-29		ENSG00000188763	ENSG00000188763		"GPCR / Class F : Frizzled receptors", "CD molecules"	4047	protein-coding gene	gene with protein product		601766	"frizzled (Drosophila) homolog 9", "frizzled homolog 9 (Drosophila)", "frizzled 9, seven transmembrane spanning receptor", "frizzled family receptor 9"			9147651, 10198163	Standard	NM_003508		Approved	FZD3, CD349	uc003tyb.3	O00144	OTTHUMG00000023051	ENST00000344575.3:c.1139C>T	7.37:g.72849476C>T	ENSP00000345785:p.Ala380Val						p.A380V	NM_003508.2	NP_003499.1	O00144	FZD9_HUMAN			1	1368	+		Lung NSC(55;0.0659)|all_lung(88;0.152)	380						Missense_Mutation	SNP	ENST00000344575.3	37	c.1139C>T	CCDS5548.1	.	.	.	.	.	.	.	.	.	.	C	16.05	3.011957	0.54468	.	.	ENSG00000188763	ENST00000344575	D	0.82255	-1.59	4.46	2.57	0.30868	GPCR, family 2-like (1);	0.218239	0.37136	U	0.002230	D	0.84701	0.5530	L	0.52573	1.65	0.36483	D	0.86798	D	0.60160	0.987	P	0.59703	0.862	D	0.85744	0.1339	10	0.72032	D	0.01	.	9.1047	0.36689	0.155:0.5446:0.3005:0.0	.	380	O00144	FZD9_HUMAN	V	380	ENSP00000345785:A380V	ENSP00000345785:A380V	A	+	2	0	FZD9	72487412	0.998000	0.40836	0.458000	0.27068	0.812000	0.45895	3.875000	0.56108	0.411000	0.25702	0.563000	0.77884	GCG		0.667	FZD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252120.1			4	71	0	0	0	1	0	4	71					T	72849476	C	T	72849476	3	4	63	1	0	0	0	0	1	0	0	0	6137	768	27	1	1141	1	FZD9	7	72849476	Missense_Mutation	SNP	C	TCGA-EJ-5515-01A-01D-1576-08		72849476	86289187	8	3211											
HGF	3082	broad.mit.edu	37	chr7	81359036	81359036	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcccctgtagccttctccttGaccttggatgcattcagttg	5	14	9	13	0	2	1	1	1	1	0	3	2	2	2	5	1	2	3	5	1	1	6			TCGA-EJ-5515-01A-01D-1576-08	TCGA-EJ-5515-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42d70e0-8083-4d69-a63f-2ae7331dd8f5	b1c94201-9a51-43a9-8d6c-75e8f0ef7420	g.chr7:81359036G>T	ENST00000222390.5	-	8	1151	c.925C>A	c.(925-927)Caa>Aaa	p.Q309K	HGF_ENST00000457544.2_Missense_Mutation_p.Q304K	NM_000601.4	NP_000592.3	P14210	HGF_HUMAN	hepatocyte growth factor (hepapoietin A; scatter factor)	309	Kringle 3. {ECO:0000255|PROSITE- ProRule:PRU00121}.				activation of MAPK activity (GO:0000187)|blood coagulation (GO:0007596)|cell chemotaxis (GO:0060326)|cellular response to hepatocyte growth factor stimulus (GO:0035729)|epithelial to mesenchymal transition (GO:0001837)|hepatocyte growth factor receptor signaling pathway (GO:0048012)|hyaluronan metabolic process (GO:0030212)|liver development (GO:0001889)|mitotic nuclear division (GO:0007067)|myoblast proliferation (GO:0051450)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of hydrogen peroxide-mediated programmed cell death (GO:1901299)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|organ regeneration (GO:0031100)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive chemotaxis (GO:0050918)|positive regulation of cell migration (GO:0030335)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling (GO:0060665)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|platelet alpha granule lumen (GO:0031093)	catalytic activity (GO:0003824)|chemoattractant activity (GO:0042056)|growth factor activity (GO:0008083)|identical protein binding (GO:0042802)	p.Q309K(1)		NS(2)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(41)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	75						CCTTCTCCTTGACCTTGGATG	0.398																																						ENST00000222390.5																			1	Substitution - Missense(1)	p.Q309K(1)	prostate(1)	NS(2)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(41)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	75						c.(925-927)Caa>Aaa		hepatocyte growth factor (hepapoietin A; scatter factor)							158	149	152					7																	81359036		2203	4300	6503	SO:0001583	missense	3082				epithelial to mesenchymal transition|mitosis|platelet activation|platelet degranulation|proteolysis|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling	platelet alpha granule lumen	growth factor activity|serine-type endopeptidase activity	g.chr7:81359036G>T		CCDS5597.1, CCDS47626.1, CCDS47627.1, CCDS47628.1, CCDS47629.1	7q21.1	2009-09-11			ENSG00000019991	ENSG00000019991			4893	protein-coding gene	gene with protein product	"hepatopoietin A", "fibroblast-derived tumor cytotoxic factor", "scatter factor", "lung fibroblast-derived mitogen"	142409	"deafness, autosomal recessive 39"	DFNB39		1837206, 19576567	Standard	XM_006715956		Approved	SF, F-TCF, HGFB, HPTA	uc003uhl.3	P14210	OTTHUMG00000023804	ENST00000222390.5:c.925C>A	7.37:g.81359036G>T	ENSP00000222390:p.Gln309Lys					HGF_ENST00000457544.2_Missense_Mutation_p.Q304K	p.Q309K	NM_000601.4	NP_000592.3	P14210	HGF_HUMAN			8	1151	-			309			Kringle 3.		A1L3U6|Q02935|Q13494|Q14519|Q3KRB2|Q8TCE2|Q9BYL9|Q9BYM0|Q9UDU6	Missense_Mutation	SNP	ENST00000222390.5	37	c.925C>A	CCDS5597.1	.	.	.	.	.	.	.	.	.	.	G	11.08	1.532342	0.27387	.	.	ENSG00000019991	ENST00000222390;ENST00000457544	T;T	0.61392	0.11;0.11	5.46	5.46	0.80206	Kringle (4);Kringle-like fold (1);	0.099162	0.64402	D	0.000002	T	0.49457	0.1558	N	0.02111	-0.68	0.80722	D	1	D;D	0.65815	0.988;0.995	D;D	0.78314	0.985;0.991	T	0.50233	-0.8852	10	0.05525	T	0.97	.	19.68	0.95958	0.0:0.0:1.0:0.0	.	304;309	P14210-3;P14210	.;HGF_HUMAN	K	309;304	ENSP00000222390:Q309K;ENSP00000391238:Q304K	ENSP00000222390:Q309K	Q	-	1	0	HGF	81196972	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.547000	0.60712	2.702000	0.92279	0.655000	0.94253	CAA		0.398	HGF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253315.2	NM_000601		10	130	1	0	0.000442599	1	0.00056708	10	130					T	81359036	G	T	81359036	3	4	63	1	0	0	0	0	1	0	0	0	7085	1299	45	5	1305	5	HGF	7	81359036	Missense_Mutation	SNP	G	TCGA-EJ-5515-01A-01D-1576-08	8509560	81359036	77779627	9	3212											
PCLO	27445	broad.mit.edu	37	chr7	82474612	82474612	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgctgccgtgcttctttttgCtcactgagggggaccctggt	3	14	13	11	1	2	1	1	1	1	0	2	2	2	2	2	3	4	3	2	3	0	3			TCGA-EJ-5515-01A-01D-1576-08	TCGA-EJ-5515-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42d70e0-8083-4d69-a63f-2ae7331dd8f5	b1c94201-9a51-43a9-8d6c-75e8f0ef7420	g.chr7:82474612C>T	ENST00000333891.9	-	13	14358	c.14021G>A	c.(14020-14022)aGc>aAc	p.S4674N	PCLO_ENST00000426442.2_5'UTR|PCLO_ENST00000423517.2_Missense_Mutation_p.S4674N	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein									p.S4674N(2)		breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						CTTCTTTTTGCTCACTGAGGG	0.468																																						ENST00000423517.2																			2	Substitution - Missense(2)	p.S4674N(2)	prostate(2)	breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						c.(14020-14022)aGc>aAc		piccolo presynaptic cytomatrix protein							50	51	51					7																	82474612		2010	4180	6190	SO:0001583	missense	27445				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	g.chr7:82474612C>T	AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"aczonin"	604918	"piccolo (presynaptic cytomatrix protein)"			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.14021G>A	7.37:g.82474612C>T	ENSP00000334319:p.Ser4674Asn					PCLO_ENST00000333891.8_Missense_Mutation_p.S4674N|PCLO_ENST00000426442.2_5'UTR	p.S4674N	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN			13	14358	-			4562						Missense_Mutation	SNP	ENST00000333891.9	37	c.14021G>A	CCDS47630.1	.	.	.	.	.	.	.	.	.	.	C	13.78	2.338106	0.41398	.	.	ENSG00000186472	ENST00000333891;ENST00000423517;ENST00000380195	T;T	0.17854	2.26;2.25	5.53	3.73	0.42828	.	.	.	.	.	T	0.19127	0.0459	L	0.54323	1.7	0.80722	D	1	B;B;B;B	0.17038	0.02;0.02;0.004;0.012	B;B;B;B	0.19946	0.027;0.027;0.009;0.006	T	0.03060	-1.1077	9	0.87932	D	0	.	12.1834	0.54223	0.0:0.8611:0.0:0.1389	.	4674;4674;104;171	Q9Y6V0-5;Q9Y6V0-6;Q9Y6V0-3;Q32P40	.;.;.;.	N	4674;4674;170	ENSP00000334319:S4674N;ENSP00000388393:S4674N	ENSP00000334319:S4674N	S	-	2	0	PCLO	82312548	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	2.723000	0.47277	0.815000	0.34398	0.561000	0.74099	AGC		0.468	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510		3	29	0	0	0	1	0	3	29					T	82474612	C	T	82474612	3	4	63	1	0	0	0	0	1	0	0	0	11583	797	28	3	1476	3	PCLO	7	82474612	Missense_Mutation	SNP	C	TCGA-EJ-5515-01A-01D-1576-08	1115576	82474612	76664051	10	3213											
FBXO10	26267	broad.mit.edu	37	chr9	37516001	37516001	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggttttgccctggaagatgaTgttttcctgcaccagggcct	6	13	12	10	0	0	2	0	1	0	1	1	3	1	3	4	3	2	3	4	3	1	4			TCGA-EJ-5515-01A-01D-1576-08	TCGA-EJ-5515-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42d70e0-8083-4d69-a63f-2ae7331dd8f5	b1c94201-9a51-43a9-8d6c-75e8f0ef7420	g.chr9:37516001T>C	ENST00000432825.2	-	10	2644	c.2596A>G	c.(2596-2598)Atc>Gtc	p.I866V	RP11-613M10.8_ENST00000544475.1_5'UTR|FBXO10_ENST00000541829.1_Missense_Mutation_p.I391V	NM_012166.2	NP_036298.2	Q9UK96	FBX10_HUMAN	F-box protein 10	866					apoptotic process (GO:0006915)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of apoptotic process (GO:0042981)	cytoplasm (GO:0005737)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(5)|large_intestine(11)|lung(15)|prostate(1)|upper_aerodigestive_tract(1)	34				GBM - Glioblastoma multiforme(29;0.0107)		TGGAAGATGATGTTTTCCTGC	0.522																																						ENST00000432825.2																			0				breast(1)|endometrium(5)|large_intestine(11)|lung(15)|prostate(1)|upper_aerodigestive_tract(1)	34						c.(2596-2598)Atc>Gtc		F-box protein 10							232	204	213					9																	37516001		1949	4149	6098	SO:0001583	missense	26267					ubiquitin ligase complex	ubiquitin-protein ligase activity	g.chr9:37516001T>C	AF174598	CCDS47966.1	9p13.1	2014-01-29	2004-06-15		ENSG00000147912	ENSG00000147912		"F-boxes /  "other""	13589	protein-coding gene	gene with protein product		609092	"F-box only protein 10"			10531035, 10531037, 19300908	Standard	NM_012166		Approved	FBX10	uc004aab.3	Q9UK96	OTTHUMG00000019926	ENST00000432825.2:c.2596A>G	9.37:g.37516001T>C	ENSP00000403802:p.Ile866Val					FBXO10_ENST00000541829.1_Missense_Mutation_p.I391V|RP11-613M10.8_ENST00000544475.1_5'UTR	p.I866V	NM_012166.2	NP_036298.2	Q9UK96	FBX10_HUMAN		GBM - Glioblastoma multiforme(29;0.0107)	10	2644	-			866					Q08AL3|Q08AL4|Q5JRT8|Q9UKC3	Missense_Mutation	SNP	ENST00000432825.2	37	c.2596A>G	CCDS47966.1	.	.	.	.	.	.	.	.	.	.	T	16.18	3.051501	0.55218	.	.	ENSG00000147912	ENST00000432825;ENST00000541829	T;T	0.80214	-1.35;-1.35	5.64	3.1	0.35709	Pectin lyase fold/virulence factor (1);Pectin lyase fold (1);	0.452007	0.24113	N	0.041438	T	0.65101	0.2659	N	0.14661	0.345	0.29340	N	0.866051	B;B;B	0.13594	0.008;0.003;0.003	B;B;B	0.19666	0.026;0.011;0.011	T	0.56956	-0.7893	10	0.29301	T	0.29	-17.1518	11.6666	0.51376	0.0:0.0:0.3859:0.6141	.	745;391;866	Q59F51;Q08AL4;Q9UK96	.;.;FBX10_HUMAN	V	866;391	ENSP00000403802:I866V;ENSP00000441307:I391V	ENSP00000403802:I866V	I	-	1	0	FBXO10	37506001	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.968000	0.40500	0.936000	0.37367	0.418000	0.28097	ATC		0.522	FBXO10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052472.3			4	141	0	0	0	1	0	4	141					C	37516001	T	C	37516001	3	2	63	1	0	0	0	0	1	0	0	0	5726	1464	51	4	282	4	FBXO10	9	37516001	Missense_Mutation	SNP	T	TCGA-EJ-5515-01A-01D-1576-08		37516001	103697430	11	3214											
RNF20	56254	broad.mit.edu	37	chr9	104314514	104314514	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtcctgagatataagcggaaAttgagagaagcccagtctga	14	8	12	7	1	1	4	0	3	1	2	2	7	2	5	2	1	2	0	2	1	4	3			TCGA-EJ-5515-01A-01D-1576-08	TCGA-EJ-5515-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42d70e0-8083-4d69-a63f-2ae7331dd8f5	b1c94201-9a51-43a9-8d6c-75e8f0ef7420	g.chr9:104314514A>T	ENST00000389120.3	+	12	1590	c.1500A>T	c.(1498-1500)aaA>aaT	p.K500N	AL591377.1_ENST00000584534.1_RNA	NM_019592.5	NP_062538.5	Q5VTR2	BRE1A_HUMAN	ring finger protein 20, E3 ubiquitin protein ligase	500					histone H2B ubiquitination (GO:0033523)|histone monoubiquitination (GO:0010390)|negative regulation of cell migration (GO:0030336)|positive regulation of histone methylation (GO:0031062)|positive regulation of transcription, DNA-templated (GO:0045893)|protein polyubiquitination (GO:0000209)|regulation of transcription, DNA-templated (GO:0006355)|ubiquitin-dependent protein catabolic process (GO:0006511)	HULC complex (GO:0033503)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	chromatin binding (GO:0003682)|histone binding (GO:0042393)|ligase activity (GO:0016874)|p53 binding (GO:0002039)|transcription coactivator activity (GO:0003713)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.K500N(1)		breast(3)|endometrium(3)|kidney(6)|large_intestine(7)|lung(23)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	54		all_hematologic(171;8.99e-06)|Acute lymphoblastic leukemia(62;0.000365)|Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;2.88e-19)|STAD - Stomach adenocarcinoma(157;0.00311)		ATAAGCGGAAATTGAGAGAAG	0.448																																						ENST00000389120.3																			1	Substitution - Missense(1)	p.K500N(1)	prostate(1)	breast(3)|endometrium(3)|kidney(6)|large_intestine(7)|lung(23)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						c.(1498-1500)aaA>aaT		ring finger protein 20, E3 ubiquitin protein ligase							120	119	119					9																	104314514		2203	4300	6503	SO:0001583	missense	56254				histone H2B ubiquitination|histone monoubiquitination|negative regulation of cell migration|positive regulation of transcription, DNA-dependent|protein polyubiquitination|ubiquitin-dependent protein catabolic process	nucleolus|ubiquitin ligase complex	histone binding|p53 binding|transcription coactivator activity|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr9:104314514A>T	AF265230	CCDS35084.1	9q22	2012-02-23	2012-02-23	2008-12-12	ENSG00000155827	ENSG00000155827		"RING-type (C3HC4) zinc fingers"	10062	protein-coding gene	gene with protein product	"BRE1 E3 ubiquitin ligase homolog (S. cerevisiae)"	607699	"ring finger protein 20"			16337599, 12876294, 18832071, 19037095	Standard	NM_019592		Approved	FLJ20382, FLJ11189, KAIA2779, BRE1A, hBRE1, BRE1	uc004bbn.3	Q5VTR2	OTTHUMG00000020385	ENST00000389120.3:c.1500A>T	9.37:g.104314514A>T	ENSP00000373772:p.Lys500Asn						p.K500N	NM_019592.5	NP_062538.5	Q5VTR2	BRE1A_HUMAN		OV - Ovarian serous cystadenocarcinoma(323;2.88e-19)|STAD - Stomach adenocarcinoma(157;0.00311)	12	1590	+		all_hematologic(171;8.99e-06)|Acute lymphoblastic leukemia(62;0.000365)|Myeloproliferative disorder(762;0.0255)	500					A7MCT5|Q2TB34|Q69YL5|Q6P527|Q8N3J4|Q96JD3|Q9H9Y7|Q9HA51|Q9NUR4|Q9NWQ3|Q9NX83	Missense_Mutation	SNP	ENST00000389120.3	37	c.1500A>T	CCDS35084.1	.	.	.	.	.	.	.	.	.	.	A	15.32	2.798085	0.50208	.	.	ENSG00000155827	ENST00000389120	T	0.38401	1.14	6.17	-1.92	0.07618	.	0.041302	0.85682	D	0.000000	T	0.26304	0.0642	L	0.52126	1.63	0.38413	D	0.945975	P	0.37781	0.608	B	0.35413	0.202	T	0.04481	-1.0948	10	0.54805	T	0.06	-24.9666	8.3323	0.32193	0.4509:0.0:0.4411:0.108	.	500	Q5VTR2	BRE1A_HUMAN	N	500	ENSP00000373772:K500N	ENSP00000373772:K500N	K	+	3	2	RNF20	103354335	0.009000	0.17119	0.086000	0.20670	0.989000	0.77384	0.074000	0.14662	-0.574000	0.05990	0.533000	0.62120	AAA		0.448	RNF20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356402.1	NM_019592		7	105	0	0	0	1	0	7	105					T	104314514	A	T	104314514	3	4	63	1	0	0	0	0	1	0	0	0	13473	98	4	5	1542	5	RNF20	9	104314514	Missense_Mutation	SNP	A	TCGA-EJ-5515-01A-01D-1576-08	66798513	104314514	36898917	12	3215											
OR13C2	392376	broad.mit.edu	37	chr9	107367082	107367082	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	acatggatataattttgtcgGtagcatccaagtcatccgaa	13	12	8	8	2	1	0	1	0	0	0	4	2	3	1	2	2	1	2	2	2	5	5			TCGA-EJ-5515-01A-01D-1576-08	TCGA-EJ-5515-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42d70e0-8083-4d69-a63f-2ae7331dd8f5	b1c94201-9a51-43a9-8d6c-75e8f0ef7420	g.chr9:107367082G>A	ENST00000542196.1	-	1	869	c.827C>T	c.(826-828)aCc>aTc	p.T276I		NM_001004481.1	NP_001004481.1	Q8NGS9	O13C2_HUMAN	olfactory receptor, family 13, subfamily C, member 2	276						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.T276I(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	22						AATTTTGTCGGTAGCATCCAA	0.408																																						ENST00000542196.1																			1	Substitution - Missense(1)	p.T276I(1)	prostate(1)	cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	22						c.(826-828)aCc>aTc		olfactory receptor, family 13, subfamily C, member 2							162	148	153					9																	107367082		2201	4300	6501	SO:0001583	missense	392376				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:107367082G>A		CCDS35092.1	9q31.1	2012-10-03			ENSG00000257019	ENSG00000276119		"GPCR / Class A : Olfactory receptors"	14701	protein-coding gene	gene with protein product							Standard	NM_001004481		Approved		uc011lvq.2	Q8NGS9	OTTHUMG00000020415	ENST00000542196.1:c.827C>T	9.37:g.107367082G>A	ENSP00000438815:p.Thr276Ile						p.T276I	NM_001004481.1	NP_001004481.1	Q8NGS9	O13C2_HUMAN			1	869	-			276					B9EGV8|Q6IF54	Missense_Mutation	SNP	ENST00000542196.1	37	c.827C>T	CCDS35092.1	.	.	.	.	.	.	.	.	.	.	G	0.006	-2.065063	0.00382	.	.	ENSG00000257019	ENST00000542196	T	0.00058	8.79	3.41	1.43	0.22495	GPCR, rhodopsin-like superfamily (1);	0.521289	0.14243	U	0.331949	T	0.00073	0.0002	N	0.05487	-0.04	0.09310	N	1	B	0.14805	0.011	B	0.13407	0.009	T	0.03112	-1.1071	10	0.23891	T	0.37	.	3.5409	0.07811	0.1332:0.0:0.4257:0.4411	.	276	Q8NGS9	O13C2_HUMAN	I	276	ENSP00000438815:T276I	ENSP00000438815:T276I	T	-	2	0	OR13C2	106406903	0.000000	0.05858	0.002000	0.10522	0.101000	0.19017	0.115000	0.15540	0.123000	0.18342	0.313000	0.20887	ACC		0.408	OR13C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053489.2	NM_001004481		8	154	0	0	0	1	0	8	154					A	107367082	G	A	107367082	3	1	63	1	0	0	0	0	1	0	0	0	10934	1261	44	3	132	3	OR13C2	9	107367082	Missense_Mutation	SNP	G	TCGA-EJ-5515-01A-01D-1576-08	3052568	107367082	33846349	13	3216											
RC3H2	54542	broad.mit.edu	37	chr9	125613481	125613481	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caactgatcattttgagaacTgataccaagctgtatgtcca	13	12	7	9	0	1	3	1	3	0	1	2	4	2	3	2	0	4	2	2	0	5	4			TCGA-EJ-5515-01A-01D-1576-08	TCGA-EJ-5515-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42d70e0-8083-4d69-a63f-2ae7331dd8f5	b1c94201-9a51-43a9-8d6c-75e8f0ef7420	g.chr9:125613481T>C	ENST00000373670.1	-	19	3859	c.3259A>G	c.(3259-3261)Agt>Ggt	p.S1087G	RC3H2_ENST00000357244.2_Missense_Mutation_p.S1087G			Q9HBD1	RC3H2_HUMAN	ring finger and CCCH-type domains 2	1087					B cell homeostasis (GO:0001782)|limb development (GO:0060173)|lung alveolus development (GO:0048286)|lymph node development (GO:0048535)|multicellular organism growth (GO:0035264)|positive regulation of NIK/NF-kappaB signaling (GO:1901224)|post-embryonic development (GO:0009791)|posttranscriptional regulation of gene expression (GO:0010608)|protein polyubiquitination (GO:0000209)|spleen development (GO:0048536)|T cell homeostasis (GO:0043029)|T cell proliferation (GO:0042098)|T follicular helper cell differentiation (GO:0061470)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.S1087G(1)		breast(3)|central_nervous_system(1)|endometrium(6)|large_intestine(4)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	33						TTTTGAGAACTGATACCAAGC	0.363																																						ENST00000373670.1																			1	Substitution - Missense(1)	p.S1087G(1)	prostate(1)	breast(3)|central_nervous_system(1)|endometrium(6)|large_intestine(4)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	33						c.(3259-3261)Agt>Ggt		ring finger and CCCH-type domains 2							128	121	123					9																	125613481		1884	4113	5997	SO:0001583	missense	54542					cell surface|endomembrane system|membrane|membrane fraction|perinuclear region of cytoplasm	DNA binding|zinc ion binding	g.chr9:125613481T>C	AK000308	CCDS43874.1, CCDS48014.1	9q34	2013-01-18	2010-09-15	2007-02-06	ENSG00000056586	ENSG00000056586		"RING-type (C3HC4) zinc fingers", "Zinc fingers, CCCH-type domain containing"	21461	protein-coding gene	gene with protein product		615231	"membrane associated DNA binding protein", "ring finger and CCCH-type zinc finger domains 2"	MNAB		10938276	Standard	NM_001100588		Approved	FLJ20301, FLJ20713, RNF164	uc010mwc.1	Q9HBD1	OTTHUMG00000020632	ENST00000373670.1:c.3259A>G	9.37:g.125613481T>C	ENSP00000362774:p.Ser1087Gly					RC3H2_ENST00000357244.2_Missense_Mutation_p.S1087G	p.S1087G			Q9HBD1	RC3H2_HUMAN			19	3859	-			1087					Q4VXB1|Q5JPD7|Q86ST6|Q8N3D6|Q96F27|Q9H5J2|Q9HBD2|Q9NWN9|Q9NXE1	Missense_Mutation	SNP	ENST00000373670.1	37	c.3259A>G	CCDS43874.1	.	.	.	.	.	.	.	.	.	.	T	16.32	3.089469	0.55968	.	.	ENSG00000056586	ENST00000373670;ENST00000357244	T;T	0.46819	0.86;0.86	5.89	5.89	0.94794	.	0.256586	0.34484	N	0.003928	T	0.30854	0.0778	N	0.08118	0	0.80722	D	1	B	0.12013	0.005	B	0.12156	0.007	T	0.12451	-1.0547	10	0.72032	D	0.01	-18.9522	14.0568	0.64774	0.0:0.0:0.0:1.0	.	1087	Q9HBD1	RC3H2_HUMAN	G	1087	ENSP00000362774:S1087G;ENSP00000349783:S1087G	ENSP00000349783:S1087G	S	-	1	0	RC3H2	124653302	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	2.796000	0.47869	2.254000	0.74563	0.533000	0.62120	AGT		0.363	RC3H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053966.1	NM_018835		7	129	0	0	0	1	0	7	129					C	125613481	T	C	125613481	3	2	63	1	0	0	0	0	1	0	0	0	13167	1580	55	4	324	4	RC3H2	9	125613481	Missense_Mutation	SNP	T	TCGA-EJ-5515-01A-01D-1576-08	18246399	125613481	15599950	14	3217											
ARHGAP22	58504	broad.mit.edu	37	chr10	49654442	49654442	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ctgccattccttttactttgGggccctggcaccttttgccc	3	15	8	15	0	0	0	0	0	0	0	1	0	1	0	5	3	3	1	5	3	1	6			TCGA-EJ-5515-01A-01D-1576-08	TCGA-EJ-5515-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42d70e0-8083-4d69-a63f-2ae7331dd8f5	b1c94201-9a51-43a9-8d6c-75e8f0ef7420	g.chr10:49654442G>T	ENST00000249601.4	-	10	2385	c.2089C>A	c.(2089-2091)Cca>Aca	p.P697T	ARHGAP22_ENST00000374172.1_Missense_Mutation_p.P588T|ARHGAP22_ENST00000435790.2_Missense_Mutation_p.P703T|ARHGAP22_ENST00000477708.2_Missense_Mutation_p.P530T|ARHGAP22_ENST00000417247.2_Missense_Mutation_p.P607T|ARHGAP22_ENST00000417912.2_Missense_Mutation_p.P713T|ARHGAP22_ENST00000374170.1_Missense_Mutation_p.P538T	NM_001256024.1|NM_021226.3	NP_001242953.1|NP_067049.2	Q7Z5H3	RHG22_HUMAN	Rho GTPase activating protein 22	697					angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|regulation of small GTPase mediated signal transduction (GO:0051056)|regulation of transcription, DNA-templated (GO:0006355)|small GTPase mediated signal transduction (GO:0007264)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	GTPase activator activity (GO:0005096)	p.P697T(1)		endometrium(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						TTTTACTTTGGGGCCCTGGCA	0.542																																						ENST00000249601.4																			1	Substitution - Missense(1)	p.P697T(1)	prostate(1)	endometrium(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						c.(2089-2091)Cca>Aca		Rho GTPase activating protein 22							108	99	102					10																	49654442		2203	4300	6503	SO:0001583	missense	58504				angiogenesis|cell differentiation|regulation of small GTPase mediated signal transduction|regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent	cytosol|nucleus	GTPase activator activity	g.chr10:49654442G>T	AY324801	CCDS7227.1, CCDS58079.1, CCDS58080.1, CCDS58081.1	10q11.23	2013-01-10			ENSG00000128805	ENSG00000128805		"Rho GTPase activating proteins", "Pleckstrin homology (PH) domain containing"	30320	protein-coding gene	gene with protein product		610585				8619474	Standard	NM_021226		Approved	RhoGAP2	uc010qgm.3	Q7Z5H3	OTTHUMG00000018176	ENST00000249601.4:c.2089C>A	10.37:g.49654442G>T	ENSP00000249601:p.Pro697Thr					ARHGAP22_ENST00000417247.2_Missense_Mutation_p.P607T|ARHGAP22_ENST00000477708.2_Missense_Mutation_p.P530T|ARHGAP22_ENST00000374172.1_Missense_Mutation_p.P588T|ARHGAP22_ENST00000374170.1_Missense_Mutation_p.P538T|ARHGAP22_ENST00000435790.2_Missense_Mutation_p.P703T|ARHGAP22_ENST00000417912.2_Missense_Mutation_p.P713T	p.P697T	NM_001256024.1|NM_021226.3	NP_001242953.1|NP_067049.2	Q7Z5H3	RHG22_HUMAN			10	2385	-			697					A0AVP7|A5YM75|B4DED8|B9EGA0|C9JDM2|O00152|Q6ZSB0	Missense_Mutation	SNP	ENST00000249601.4	37	c.2089C>A	CCDS7227.1	.	.	.	.	.	.	.	.	.	.	G	13.71	2.317235	0.40996	.	.	ENSG00000128805	ENST00000249601;ENST00000374172;ENST00000374170;ENST00000477708;ENST00000417247;ENST00000435790;ENST00000417912	T;T;T;T;T;T;T	0.47869	2.11;1.87;0.83;1.04;1.73;2.05;2.18	4.16	4.16	0.48862	.	0.614826	0.14995	N	0.286489	T	0.50137	0.1598	M	0.65975	2.015	0.09310	N	1	P;B;B;B;B;B	0.52316	0.952;0.001;0.001;0.001;0.001;0.379	P;B;B;B;B;B	0.46585	0.521;0.001;0.004;0.001;0.004;0.063	T	0.47560	-0.9108	10	0.54805	T	0.06	.	9.493	0.38971	0.1046:0.0:0.8954:0.0	.	703;697;713;697;607;530	B4DED8;A6NDI7;Q7Z5H3-2;Q7Z5H3;Q7Z5H3-3;D6R9V6	.;.;.;RHG22_HUMAN;.;.	T	697;588;538;530;607;703;713	ENSP00000249601:P697T;ENSP00000363287:P588T;ENSP00000363285:P538T;ENSP00000422868:P530T;ENSP00000410054:P607T;ENSP00000416701:P703T;ENSP00000412461:P713T	ENSP00000249601:P697T	P	-	1	0	ARHGAP22	49324448	0.003000	0.15002	0.003000	0.11579	0.386000	0.30323	0.419000	0.21247	1.869000	0.54173	0.491000	0.48974	CCA		0.542	ARHGAP22-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000358767.1	NM_021226		3	43	1	0	6.4e-05	1	8.74667e-05	3	43					T	49654442	G	T	49654442	3	4	63	1	0	0	0	0	1	0	0	0	872	1232	43	5	11	5	ARHGAP22	10	49654442	Missense_Mutation	SNP	G	TCGA-EJ-5515-01A-01D-1576-08		49654442	85880305	15	3218											
CD248	57124	broad.mit.edu	37	chr11	66082756	66082756	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcagttgggataatgggaagCtgggtggcctgggttctgag	7	10	19	5	0	1	1	0	1	1	0	1	3	1	3	1	5	1	4	1	5	2	3			TCGA-EJ-5515-01A-01D-1576-08	TCGA-EJ-5515-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42d70e0-8083-4d69-a63f-2ae7331dd8f5	b1c94201-9a51-43a9-8d6c-75e8f0ef7420	g.chr11:66082756C>T	ENST00000311330.3	-	1	1759	c.1743G>A	c.(1741-1743)caG>caA	p.Q581Q	RP11-867G23.13_ENST00000534065.1_RNA	NM_020404.2	NP_065137.1	Q9HCU0	CD248_HUMAN	CD248 molecule, endosialin	581	Pro-rich.				anatomical structure regression (GO:0060033)|cell migration (GO:0016477)|lymph node development (GO:0048535)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell apoptotic process (GO:2000353)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|extracellular matrix binding (GO:0050840)	p.Q581Q(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	26						TAATGGGAAGCTGGGTGGCCT	0.632																																						ENST00000311330.3																			1	Substitution - coding silent(1)	p.Q581Q(1)	prostate(1)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	26						c.(1741-1743)caG>caA		CD248 molecule, endosialin	Cefalotin(DB00456)						127	140	135					11																	66082756		2200	4295	6495	SO:0001819	synonymous_variant	57124					integral to membrane|proteinaceous extracellular matrix	calcium ion binding|sugar binding	g.chr11:66082756C>T	AF279142	CCDS8134.1	11q13	2006-04-12	2006-03-28	2005-02-11	ENSG00000174807	ENSG00000174807		"CD molecules"	18219	protein-coding gene	gene with protein product	"endosialin", "tumor endothelial marker 1"	606064	"CD164 sialomucin-like 1", "CD248 antigen, endosialin"	CD164L1		10947988, 11084048	Standard	NM_020404		Approved	TEM1	uc001ohm.1	Q9HCU0	OTTHUMG00000167073	ENST00000311330.3:c.1743G>A	11.37:g.66082756C>T						RP11-867G23.13_ENST00000534065.1_RNA	p.Q581Q	NM_020404.2	NP_065137.1	Q9HCU0	CD248_HUMAN			1	1759	-			581			Pro-rich.		Q2M2V5|Q3SX55|Q96KB6	Silent	SNP	ENST00000311330.3	37	c.1743G>A	CCDS8134.1																																																																																				0.632	CD248-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392922.2	NM_020404		10	177	0	0	0	1	0	10	177					T	66082756	C	T	66082756	2	4	63	1	0	0	0	0	0	0	0	1	2989	796	28	3		3	CD248	11	66082756	Silent	SNP	C	TCGA-EJ-5515-01A-01D-1576-08		66082756	68923760	16	3219											
ACAT1	38	broad.mit.edu	37	chr11	108002646	108002646	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tattacaggaaataagatatGtggaacggagttatgtatca	16	12	10	3	1	1	1	1	0	0	1	1	4	1	4	0	3	2	2	0	3	8	6			TCGA-EJ-5515-01A-01D-1576-08	TCGA-EJ-5515-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42d70e0-8083-4d69-a63f-2ae7331dd8f5	b1c94201-9a51-43a9-8d6c-75e8f0ef7420	g.chr11:108002646G>T	ENST00000265838.4	+	2	176	c.85G>T	c.(85-87)Gtg>Ttg	p.V29L	ACAT1_ENST00000526119.1_3'UTR|ACAT1_ENST00000299355.6_Missense_Mutation_p.V29L	NM_000019.3	NP_000010.1	P24752	THIL_HUMAN	acetyl-CoA acetyltransferase 1	29					adipose tissue development (GO:0060612)|brain development (GO:0007420)|branched-chain amino acid catabolic process (GO:0009083)|cellular ketone body metabolic process (GO:0046950)|cellular lipid metabolic process (GO:0044255)|cellular nitrogen compound metabolic process (GO:0034641)|ketone body biosynthetic process (GO:0046951)|ketone body catabolic process (GO:0046952)|liver development (GO:0001889)|metanephric proximal convoluted tubule development (GO:0072229)|protein homooligomerization (GO:0051260)|response to hormone (GO:0009725)|response to organic cyclic compound (GO:0014070)|response to starvation (GO:0042594)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	acetyl-CoA C-acetyltransferase activity (GO:0003985)|coenzyme binding (GO:0050662)|metal ion binding (GO:0046872)	p.V29L(1)		endometrium(1)|large_intestine(1)|lung(3)|ovary(3)|prostate(2)	10		all_cancers(61;6.41e-10)|all_epithelial(67;2.83e-06)|Melanoma(852;1.46e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		BRCA - Breast invasive adenocarcinoma(274;2.96e-05)|Epithelial(105;4.35e-05)|all cancers(92;0.00108)|OV - Ovarian serous cystadenocarcinoma(223;0.192)	Sulfasalazine(DB00795)	AATAAGATATGTGGAACGGAG	0.229																																						ENST00000265838.4																			1	Substitution - Missense(1)	p.V29L(1)	prostate(1)	endometrium(1)|large_intestine(1)|lung(3)|ovary(3)|prostate(2)	10						c.(85-87)Gtg>Ttg		acetyl-CoA acetyltransferase 1	Sulfasalazine(DB00795)						31	36	34					11																	108002646		2166	4255	6421	SO:0001583	missense	38				acetoacetic acid biosynthetic process|branched chain family amino acid catabolic process|ketone body biosynthetic process|ketone body catabolic process	mitochondrial matrix	acetyl-CoA C-acetyltransferase activity|metal ion binding	g.chr11:108002646G>T	D90228	CCDS8339.1	11q22.3	2010-04-30	2010-04-30		ENSG00000075239	ENSG00000075239	2.3.1.9		93	protein-coding gene	gene with protein product	"acetoacetyl Coenzyme A thiolase"	607809	"acetyl-Coenzyme A acetyltransferase 1"	ACAT		1979337	Standard	NM_000019		Approved	THIL	uc001pjy.3	P24752	OTTHUMG00000166381	ENST00000265838.4:c.85G>T	11.37:g.108002646G>T	ENSP00000265838:p.Val29Leu					ACAT1_ENST00000526119.1_3'UTR|ACAT1_ENST00000299355.6_Missense_Mutation_p.V29L	p.V29L	NM_000019.3	NP_000010.1	P24752	THIL_HUMAN		BRCA - Breast invasive adenocarcinoma(274;2.96e-05)|Epithelial(105;4.35e-05)|all cancers(92;0.00108)|OV - Ovarian serous cystadenocarcinoma(223;0.192)	2	176	+		all_cancers(61;6.41e-10)|all_epithelial(67;2.83e-06)|Melanoma(852;1.46e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)	29					B2R6H1|G3XAB4|Q96FG8	Missense_Mutation	SNP	ENST00000265838.4	37	c.85G>T	CCDS8339.1	.	.	.	.	.	.	.	.	.	.	G	10.33	1.321030	0.23994	.	.	ENSG00000075239	ENST00000265838;ENST00000299355	D;D	0.92858	-3.01;-3.12	4.96	-2.98	0.05513	.	1.072560	0.07065	N	0.834369	T	0.78811	0.4342	N	0.08118	0	0.09310	N	1	B;B	0.06786	0.0;0.001	B;B	0.09377	0.0;0.004	T	0.65861	-0.6065	10	0.09338	T	0.73	-0.4046	7.199	0.25871	0.5715:0.1325:0.296:0.0	.	29;29	P24752;G3XAB4	THIL_HUMAN;.	L	29	ENSP00000265838:V29L;ENSP00000299355:V29L	ENSP00000265838:V29L	V	+	1	0	ACAT1	107507856	0.000000	0.05858	0.001000	0.08648	0.864000	0.49448	-0.827000	0.04424	-0.721000	0.04929	0.467000	0.42956	GTG		0.229	ACAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389474.1	NM_000019		3	55	1	0	1	1	1	3	55					T	108002646	G	T	108002646	3	4	63	1	0	0	0	0	1	0	0	0	121	1377	48	5	91	5	ACAT1	11	108002646	Missense_Mutation	SNP	G	TCGA-EJ-5515-01A-01D-1576-08	41919890	108002646	27003870	17	3220											
ROBO4	54538	broad.mit.edu	37	chr11	124766108	124766108	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttaccctggatggaaaccCgggctgcgcggctctcccta	6	8	11	16	3	1	0	0	0	1	0	2	2	1	2	4	4	3	2	4	4	3	2	rs200599294		TCGA-EJ-5515-01A-01D-1576-08	TCGA-EJ-5515-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42d70e0-8083-4d69-a63f-2ae7331dd8f5	b1c94201-9a51-43a9-8d6c-75e8f0ef7420	g.chr11:124766108C>T	ENST00000306534.3	-	4	1150	c.665G>A	c.(664-666)cGg>cAg	p.R222Q	ROBO4_ENST00000526899.1_5'UTR|ROBO4_ENST00000533054.1_Missense_Mutation_p.R77Q	NM_019055.5	NP_061928.4	Q8WZ75	ROBO4_HUMAN	roundabout, axon guidance receptor, homolog 4 (Drosophila)	222	Ig-like C2-type 2.				angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|negative regulation of cell migration (GO:0030336)|regulation of cell migration (GO:0030334)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)	p.R222Q(1)		NS(2)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(42)|ovary(1)|prostate(4)|skin(5)|urinary_tract(3)	76	all_hematologic(175;0.215)	Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0301)		GATGGAAACCCGGGCTGCGCG	0.607																																						ENST00000306534.3																			1	Substitution - Missense(1)	p.R222Q(1)	prostate(1)	NS(2)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(42)|ovary(1)|prostate(4)|skin(5)|urinary_tract(3)	76						c.(664-666)cGg>cAg		roundabout, axon guidance receptor, homolog 4 (Drosophila)							73	74	74					11																	124766108		2201	4299	6500	SO:0001583	missense	54538				angiogenesis|cell differentiation	integral to membrane	receptor activity	g.chr11:124766108C>T	AF361473	CCDS8455.1, CCDS73409.1	11q24.2	2013-02-11	2011-12-09		ENSG00000154133	ENSG00000154133		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	17985	protein-coding gene	gene with protein product	"magic roundabout"	607528	"roundabout homolog 4 (Drosophila)"			11076864	Standard	NM_019055		Approved	FLJ20798, MRB, ECSM4	uc001qbg.3	Q8WZ75	OTTHUMG00000165936	ENST00000306534.3:c.665G>A	11.37:g.124766108C>T	ENSP00000304945:p.Arg222Gln					ROBO4_ENST00000526899.1_5'UTR|ROBO4_ENST00000533054.1_Missense_Mutation_p.R77Q	p.R222Q	NM_019055.5	NP_061928.4	Q8WZ75	ROBO4_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0301)	4	1150	-	all_hematologic(175;0.215)	Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224)	222			Ig-like C2-type 2.		A8K154|Q14DU7|Q8TEG1|Q96JV6|Q9H718|Q9NWJ8	Missense_Mutation	SNP	ENST00000306534.3	37	c.665G>A	CCDS8455.1	.	.	.	.	.	.	.	.	.	.	C	11.51	1.659961	0.29515	.	.	ENSG00000154133	ENST00000306534;ENST00000374963;ENST00000533054	T;T	0.39229	1.09;1.09	5.04	3.17	0.36434	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.43110	D	0.000611	T	0.45736	0.1357	L	0.28649	0.875	0.18873	N	0.999982	D;P	0.69078	0.997;0.854	D;B	0.67103	0.949;0.141	T	0.20739	-1.0266	10	0.38643	T	0.18	.	8.8742	0.35334	0.0:0.8255:0.0:0.1745	.	112;222	Q8WZ75-3;Q8WZ75	.;ROBO4_HUMAN	Q	222;112;77	ENSP00000304945:R222Q;ENSP00000437129:R77Q	ENSP00000304945:R222Q	R	-	2	0	ROBO4	124271318	0.004000	0.15560	0.512000	0.27736	0.001000	0.01503	0.061000	0.14366	0.817000	0.34445	-0.142000	0.14014	CGG		0.607	ROBO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387111.1	NM_019055		3	73	0	0	0	1	0	3	73					T	124766108	C	T	124766108	3	4	63	1	0	0	0	0	1	0	0	0	13516	652	23	2	2418	2	ROBO4	11	124766108	Missense_Mutation	SNP	C	TCGA-EJ-5515-01A-01D-1576-08	16763462	124766108	10240408	18	3221											
SLC25A3	5250	broad.mit.edu	37	chr12	98993848	98993848	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agtttgtggttcctaagcccCgcagtgaatgttcaaagcca	10	11	10	10	1	1	1	1	1	0	0	2	1	2	1	4	1	2	4	4	1	3	4	rs370953752		TCGA-EJ-5515-01A-01D-1576-08	TCGA-EJ-5515-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42d70e0-8083-4d69-a63f-2ae7331dd8f5	b1c94201-9a51-43a9-8d6c-75e8f0ef7420	g.chr12:98993848C>A	ENST00000228318.3	+	6	880	c.760C>A	c.(760-762)Cgc>Agc	p.R254S	SNORA53_ENST00000391141.1_RNA|SLC25A3_ENST00000188376.5_Missense_Mutation_p.R253S|SLC25A3_ENST00000549338.1_Missense_Mutation_p.R253S|SLC25A3_ENST00000401722.3_Missense_Mutation_p.R253S|SLC25A3_ENST00000551917.1_Missense_Mutation_p.R254S|SLC25A3_ENST00000552981.1_Missense_Mutation_p.R253S|SLC25A3_ENST00000548847.1_Missense_Mutation_p.R253S	NM_005888.3	NP_005879.1	Q00325	MPCP_HUMAN	solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 3	254					generation of precursor metabolites and energy (GO:0006091)|phosphate ion transmembrane transport (GO:0035435)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	phosphate ion carrier activity (GO:0015320)|protein complex binding (GO:0032403)|symporter activity (GO:0015293)	p.R254S(3)|p.R253S(2)		breast(1)|endometrium(2)|large_intestine(4)|lung(8)|prostate(1)	16		Lung NSC(355;4.08e-05)|Breast(359;0.00191)|Colorectal(145;0.00205)|Myeloproliferative disorder(1001;0.0255)		GBM - Glioblastoma multiforme(134;1.36e-23)|BRCA - Breast invasive adenocarcinoma(302;0.000115)		TCCTAAGCCCCGCAGTGAATG	0.428																																						ENST00000188376.5																			5	Substitution - Missense(5)	p.R254S(3)|p.R253S(2)	lung(3)|prostate(2)	breast(1)|endometrium(2)|large_intestine(4)|lung(8)|prostate(1)	16						c.(757-759)Cgc>Agc		solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 3							139	116	124					12																	98993848		2203	4300	6503	SO:0001583	missense	5250				generation of precursor metabolites and energy	integral to plasma membrane|mitochondrial inner membrane	phosphate carrier activity|symporter activity	g.chr12:98993848C>A		CCDS9065.1, CCDS9066.1	12q23.1	2013-05-22			ENSG00000075415	ENSG00000075415		"Solute carriers"	10989	protein-coding gene	gene with protein product		600370		PHC		8168843	Standard	NM_213611		Approved		uc001tfo.3	Q00325	OTTHUMG00000170212	ENST00000228318.3:c.760C>A	12.37:g.98993848C>A	ENSP00000228318:p.Arg254Ser					SLC25A3_ENST00000228318.3_Missense_Mutation_p.R254S|SLC25A3_ENST00000401722.3_Missense_Mutation_p.R253S|SLC25A3_ENST00000549338.1_Missense_Mutation_p.R253S|SLC25A3_ENST00000548847.1_Missense_Mutation_p.R253S|SLC25A3_ENST00000552981.1_Missense_Mutation_p.R253S|SLC25A3_ENST00000551917.1_Missense_Mutation_p.R254S	p.R253S	NM_002635.3|NM_213611.2	NP_002626.1|NP_998776.1	Q00325	MPCP_HUMAN		GBM - Glioblastoma multiforme(134;1.36e-23)|BRCA - Breast invasive adenocarcinoma(302;0.000115)	5	1111	+		Lung NSC(355;4.08e-05)|Breast(359;0.00191)|Colorectal(145;0.00205)|Myeloproliferative disorder(1001;0.0255)	254					B3KS34|Q7Z7N7|Q96A03	Missense_Mutation	SNP	ENST00000228318.3	37	c.757C>A	CCDS9066.1	.	.	.	.	.	.	.	.	.	.	C	18.81	3.702955	0.68501	.	.	ENSG00000075415	ENST00000401722;ENST00000188376;ENST00000228318;ENST00000551917;ENST00000552981;ENST00000549338;ENST00000548847	T;T;T;T;T;T;T	0.78246	-1.15;-1.15;-1.15;-1.15;-1.15;-1.15;-1.16	5.49	2.35	0.29111	Mitochondrial carrier domain (2);	0.237399	0.43260	D	0.000586	T	0.76513	0.3998	L	0.52206	1.635	0.80722	D	1	B;B;B;B	0.32338	0.365;0.127;0.264;0.098	B;B;B;B	0.43478	0.421;0.079;0.079;0.15	T	0.76072	-0.3093	10	0.87932	D	0	-3.5357	9.9803	0.41809	0.3704:0.5068:0.1228:0.0	.	253;253;254;253	F8VVM2;B2RE88;Q00325;Q00325-2	.;.;MPCP_HUMAN;.	S	253;253;254;254;253;253;253	ENSP00000383898:R253S;ENSP00000188376:R253S;ENSP00000228318:R254S;ENSP00000447310:R254S;ENSP00000448708:R253S;ENSP00000447740:R253S;ENSP00000449166:R253S	ENSP00000188376:R253S	R	+	1	0	SLC25A3	97517979	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.166000	0.42406	0.724000	0.32296	0.655000	0.94253	CGC		0.428	SLC25A3-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000407989.1	NM_005888		3	63	1	0	1	1	1	3	63					A	98993848	C	A	98993848	3	1	63	1	0	0	0	0	1	0	0	0	14493	652	23	5	904	5	SLC25A3	12	98993848	Missense_Mutation	SNP	C	TCGA-EJ-5515-01A-01D-1576-08		98993848	34858047	19	3222											
RTL1	388015	broad.mit.edu	37	chr14	101348187	101348187	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttctggcagctccatgacgTcaaagttgaagtgggagaag	11	9	14	7	1	2	3	1	2	1	1	3	4	3	3	1	2	1	4	1	2	3	2			TCGA-EJ-5515-01A-01D-1576-08	TCGA-EJ-5515-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42d70e0-8083-4d69-a63f-2ae7331dd8f5	b1c94201-9a51-43a9-8d6c-75e8f0ef7420	g.chr14:101348187T>C	ENST00000534062.1	-	1	2997	c.2939A>G	c.(2938-2940)gAc>gGc	p.D980G	MIR136_ENST00000385207.1_RNA|MIR127_ENST00000384876.1_RNA|MIR431_ENST00000385266.1_RNA|MIR433_ENST00000384837.1_RNA|MIR432_ENST00000606207.1_RNA	NM_001134888.2	NP_001128360.1	A6NKG5	RTL1_HUMAN	retrotransposon-like 1	980					multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)		p.D980G(1)		breast(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(5)|pancreas(1)|prostate(2)|skin(2)	21						CTCCATGACGTCAAAGTTGAA	0.557																																						ENST00000534062.1																			1	Substitution - Missense(1)	p.D980G(1)	prostate(1)	breast(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(5)|pancreas(1)|prostate(2)|skin(2)	21						c.(2938-2940)gAc>gGc		retrotransposon-like 1							77	79	78					14																	101348187		1568	3582	5150	SO:0001583	missense	388015							g.chr14:101348187T>C		CCDS53910.1	14q32.2	2012-04-18			ENSG00000254656	ENSG00000254656			14665	protein-coding gene	gene with protein product		611896				16155747, 15854907, 12796779	Standard	NM_001134888		Approved	PEG11, MART1, Mar1	uc010txj.1	A6NKG5	OTTHUMG00000167573	ENST00000534062.1:c.2939A>G	14.37:g.101348187T>C	ENSP00000435342:p.Asp980Gly						p.D980G	NM_001134888.2	NP_001128360.1	E9PKS8	E9PKS8_HUMAN			1	2997	-			980					E9PKS8	Missense_Mutation	SNP	ENST00000534062.1	37	c.2939A>G	CCDS53910.1	.	.	.	.	.	.	.	.	.	.	T	5.435	0.265414	0.10294	.	.	ENSG00000254656	ENST00000534062	T	0.44482	0.92	3.39	2.26	0.28386	.	0.216865	0.23483	N	0.047684	T	0.17662	0.0424	N	0.14661	0.345	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.15321	-1.0441	10	0.09590	T	0.72	.	2.4884	0.04604	0.2354:0.1334:0.0:0.6312	.	980	E9PKS8	.	G	980	ENSP00000435342:D980G	ENSP00000435342:D980G	D	-	2	0	RTL1	100417940	0.009000	0.17119	0.050000	0.19076	0.521000	0.34408	1.240000	0.32731	0.702000	0.31825	0.454000	0.30748	GAC		0.557	RTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395127.1	NM_001134888		3	101	0	0	0	1	0	3	101					C	101348187	T	C	101348187	3	2	63	1	0	0	0	0	1	0	0	0	13724	1667	58	4	1141	4	RTL1	14	101348187	Missense_Mutation	SNP	T	TCGA-EJ-5515-01A-01D-1576-08		101348187	6001353	20	3223											
CLK3	1198	broad.mit.edu	37	chr15	74914890	74914890	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggcaaggtggtggagtgcttGgaccatgccaggtgagcgag	8	7	19	7	1	0	1	0	1	0	0	0	4	0	3	2	6	3	2	2	6	1	1			TCGA-EJ-5515-01A-01D-1576-08	TCGA-EJ-5515-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42d70e0-8083-4d69-a63f-2ae7331dd8f5	b1c94201-9a51-43a9-8d6c-75e8f0ef7420	g.chr15:74914890G>C	ENST00000395066.3	+	5	1427	c.966G>C	c.(964-966)ttG>ttC	p.L322F	CLK3_ENST00000348245.3_Missense_Mutation_p.W142S|CLK3_ENST00000352989.5_Intron|CLK3_ENST00000345005.4_Missense_Mutation_p.L174F	NM_001130028.1	NP_001123500.1	P49761	CLK3_HUMAN	CDC-like kinase 3	322	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of RNA splicing (GO:0043484)	cytoplasmic vesicle (GO:0031410)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)	p.L174F(2)|p.L322F(1)		breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(2)|stomach(2)|urinary_tract(1)	15						TGGAGTGCTTGGACCATGCCA	0.567																																					Ovarian(133;694 1754 28950 29027 31859)	ENST00000395066.3																			3	Substitution - Missense(3)	p.L174F(2)|p.L322F(1)	prostate(3)	breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(2)|stomach(2)|urinary_tract(1)	15						c.(964-966)ttG>ttC		CDC-like kinase 3							93	83	87					15																	74914890		2197	4296	6493	SO:0001583	missense	1198					acrosomal vesicle|nucleus	ATP binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr15:74914890G>C	L29220	CCDS10265.1, CCDS45304.1	15q24	2008-05-02			ENSG00000179335	ENSG00000179335		"CDC-like kinases"	2071	protein-coding gene	gene with protein product		602990				7990150, 9856501	Standard	NM_003992		Approved	clk3	uc010uln.2	P49761	OTTHUMG00000141320	ENST00000395066.3:c.966G>C	15.37:g.74914890G>C	ENSP00000378505:p.Leu322Phe					CLK3_ENST00000348245.3_Missense_Mutation_p.W142S|CLK3_ENST00000345005.4_Missense_Mutation_p.L174F|CLK3_ENST00000352989.5_Intron	p.L322F	NM_001130028.1	NP_001123500.1	P49761	CLK3_HUMAN			5	1427	+			322			Protein kinase.		D3DW59|Q53Y48|Q9BRS3|Q9BUJ7	Missense_Mutation	SNP	ENST00000395066.3	37	c.966G>C	CCDS45304.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.52|13.52	2.262161|2.262161	0.39995|0.39995	.|.	.|.	ENSG00000179335|ENSG00000179335	ENST00000345005;ENST00000395066;ENST00000454830|ENST00000348245	T|.	0.20598|.	2.06|.	5.75|5.75	4.78|4.78	0.61160|0.61160	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.104988|.	0.40554|.	N|.	0.001069|.	T|T	0.41236|0.41236	0.1150|0.1150	N|N	0.10837|0.10837	0.055|0.055	0.42698|0.42698	D|D	0.993604|0.993604	B;B|.	0.16603|.	0.011;0.018|.	B;B|.	0.11329|.	0.006;0.004|.	T|T	0.45891|0.45891	-0.9230|-0.9230	10|6	0.29301|0.87932	T|D	0.29|0	.|.	10.6173|10.6173	0.45458|0.45458	0.0735:0.1356:0.7908:0.0|0.0735:0.1356:0.7908:0.0	.|.	322;101|.	P49761;B3KUU7|.	CLK3_HUMAN;.|.	F|S	174;174;322|142	ENSP00000344112:L174F|.	ENSP00000344112:L174F|ENSP00000321136:W142S	L|W	+|+	3|2	2|0	CLK3|CLK3	72701943|72701943	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	0.978000|0.978000	0.29488|0.29488	2.719000|2.719000	0.93026|0.93026	0.655000|0.655000	0.94253|0.94253	TTG|TGG		0.567	CLK3-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000390442.3			5	114	0	0	0	1	0	5	114					C	74914890	G	C	74914890	3	2	63	1	0	0	0	0	1	0	0	0	3538	1339	47	5	984	5	CLK3	15	74914890	Missense_Mutation	SNP	G	TCGA-EJ-5515-01A-01D-1576-08		74914890	27616502	21	3224											
TOX3	27324	broad.mit.edu	37	chr16	52484402	52484402	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tcggtcatgtggacgatggaCcgcatgatcagggagggatc	9	8	16	8	3	2	1	2	1	0	0	4	6	2	5	1	5	0	1	1	5	0	0			TCGA-EJ-5515-01A-01D-1576-08	TCGA-EJ-5515-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42d70e0-8083-4d69-a63f-2ae7331dd8f5	b1c94201-9a51-43a9-8d6c-75e8f0ef7420	g.chr16:52484402C>T	ENST00000219746.9	-	4	749	c.465G>A	c.(463-465)cgG>cgA	p.R155R	TOX3_ENST00000407228.3_Silent_p.R150R	NM_001080430.2	NP_001073899.2	O15405	TOX3_HUMAN	TOX high mobility group box family member 3	155					apoptotic process (GO:0006915)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|estrogen response element binding (GO:0034056)|phosphoprotein binding (GO:0051219)|protein homodimerization activity (GO:0042803)	p.R155R(1)|p.R150R(1)		NS(2)|endometrium(6)|kidney(1)|lung(8)|prostate(3)|stomach(3)|upper_aerodigestive_tract(1)	24						GGACGATGGACCGCATGATCA	0.562																																						ENST00000219746.9																			2	Substitution - coding silent(2)	p.R155R(1)|p.R150R(1)	prostate(2)	NS(2)|endometrium(6)|kidney(1)|lung(8)|prostate(3)|stomach(3)|upper_aerodigestive_tract(1)	24						c.(463-465)cgG>cgA		TOX high mobility group box family member 3							97	102	101					16																	52484402		2097	4218	6315	SO:0001819	synonymous_variant	27324				apoptosis|negative regulation of neuron apoptosis|positive regulation of anti-apoptosis|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	chromatin binding|estrogen response element binding|phosphoprotein binding|protein homodimerization activity	g.chr16:52484402C>T	U80736	CCDS54008.1, CCDS54009.1	16q12.1	2008-02-05	2007-03-20	2007-03-20		ENSG00000103460		"Trinucleotide (CAG) repeat containing"	11972	protein-coding gene	gene with protein product		611416	"trinucleotide repeat containing 9"	TNRC9		9225980	Standard	NM_001080430		Approved	CAGF9	uc002egw.2	O15405		ENST00000219746.9:c.465G>A	16.37:g.52484402C>T						TOX3_ENST00000407228.3_Silent_p.R150R	p.R155R	NM_001080430.2	NP_001073899.2	O15405	TOX3_HUMAN			4	749	-			155					B4DRD0|B5MCW4	Silent	SNP	ENST00000219746.9	37	c.465G>A	CCDS54009.1																																																																																				0.562	TOX3-003	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000422534.1	XM_049037		5	102	0	0	0	1	0	5	102					T	52484402	C	T	52484402	2	4	63	1	0	0	0	0	0	0	0	1	16376	494	18	3		3	TOX3	16	52484402	Silent	SNP	C	TCGA-EJ-5515-01A-01D-1576-08		52484402	37870351	22	3225											
EPN2	22905	broad.mit.edu	37	chr17	19235303	19235303	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtccttcctgggccccaacGcggccctggtgaacctggac	6	7	12	16	2	0	1	0	1	0	0	2	2	2	2	6	4	2	0	6	4	2	1			TCGA-EJ-5515-01A-01D-1576-08	TCGA-EJ-5515-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42d70e0-8083-4d69-a63f-2ae7331dd8f5	b1c94201-9a51-43a9-8d6c-75e8f0ef7420	g.chr17:19235303G>A	ENST00000314728.5	+	10	2033	c.1549G>A	c.(1549-1551)Gcg>Acg	p.A517T	EPN2_ENST00000395618.3_Missense_Mutation_p.A232T|RP11-135L13.4_ENST00000581122.1_RNA|EPN2_ENST00000347697.2_Missense_Mutation_p.A460T|EPN2_ENST00000575595.1_Missense_Mutation_p.A225T|EPN2_ENST00000395620.2_Missense_Mutation_p.A460T|EPN2_ENST00000571254.1_Missense_Mutation_p.A453T|EPN2_ENST00000395626.1_Intron	NM_014964.4	NP_055779.2	O95208	EPN2_HUMAN	epsin 2	517	6 X 3 AA repeats of [DE]-P-W.				embryonic organ development (GO:0048568)|endocytosis (GO:0006897)|in utero embryonic development (GO:0001701)|Notch signaling pathway (GO:0007219)	clathrin coat of endocytic vesicle (GO:0030128)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	lipid binding (GO:0008289)	p.A517T(1)		breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	19	all_cancers(12;3.11e-05)|all_epithelial(12;0.00121)|Hepatocellular(7;0.00345)|Breast(13;0.143)					GGGCCCCAACGCGGCCCTGGT	0.627																																						ENST00000314728.5																			1	Substitution - Missense(1)	p.A517T(1)	prostate(1)	breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	19						c.(1549-1551)Gcg>Acg		epsin 2							93	88	90					17																	19235303		2203	4300	6503	SO:0001583	missense	22905				endocytosis		lipid binding	g.chr17:19235303G>A	AB028988	CCDS11203.1, CCDS11204.1, CCDS42277.1	17p11.2	2012-11-19			ENSG00000072134	ENSG00000072134			18639	protein-coding gene	gene with protein product	"Eps15 binding protein"	607263				10567358	Standard	NM_014964		Approved	KIAA1065, EHB21	uc002gvd.4	O95208	OTTHUMG00000178447	ENST00000314728.5:c.1549G>A	17.37:g.19235303G>A	ENSP00000320543:p.Ala517Thr					EPN2_ENST00000575595.1_Missense_Mutation_p.A225T|EPN2_ENST00000395626.1_Intron|EPN2_ENST00000395618.3_Missense_Mutation_p.A232T|EPN2_ENST00000347697.2_Missense_Mutation_p.A460T|EPN2_ENST00000571254.1_Missense_Mutation_p.A453T|EPN2_ENST00000395620.2_Missense_Mutation_p.A460T	p.A517T	NM_014964.4	NP_055779.2	O95208	EPN2_HUMAN			10	2033	+	all_cancers(12;3.11e-05)|all_epithelial(12;0.00121)|Hepatocellular(7;0.00345)|Breast(13;0.143)		517			6 X 3 AA repeats of [DE]-P-W.		A8MTV8|B3KRX8|E9PBC2|O95207|Q52LD0|Q9H7Z2|Q9UPT7	Missense_Mutation	SNP	ENST00000314728.5	37	c.1549G>A	CCDS11203.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.193375	0.78902	.	.	ENSG00000072134	ENST00000347697;ENST00000395618;ENST00000314728;ENST00000395628;ENST00000395620	T;T;T;T	0.41065	1.01;1.01;1.01;1.01	4.7	4.7	0.59300	.	0.211012	0.48767	D	0.000168	T	0.70037	0.3178	M	0.86740	2.835	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.91635	0.995;0.975;0.999;0.999;0.995;0.998	T	0.76639	-0.2885	10	0.62326	D	0.03	-21.5308	17.9955	0.89182	0.0:0.0:1.0:0.0	.	460;453;225;232;460;517	Q52LD0;B7ZKM5;B7Z3A5;A8MTV8;E9PBC2;O95208	.;.;.;.;.;EPN2_HUMAN	T	460;232;517;460;460	ENSP00000261495:A460T;ENSP00000378980:A232T;ENSP00000320543:A517T;ENSP00000378982:A460T	ENSP00000320543:A517T	A	+	1	0	EPN2	19175896	1.000000	0.71417	0.899000	0.35326	0.216000	0.24613	9.358000	0.97109	2.290000	0.77057	0.462000	0.41574	GCG		0.627	EPN2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000132283.3	NM_014964		4	134	0	0	0	1	0	4	134					A	19235303	G	A	19235303	3	1	63	1	0	0	0	0	1	0	0	0	5186	1087	38	1	1579	1	EPN2	17	19235303	Missense_Mutation	SNP	G	TCGA-EJ-5515-01A-01D-1576-08		19235303	61959907	23	3226											
SLFN11	91607	broad.mit.edu	37	chr17	33690215	33690215	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgagactcaggaaaaggcagGatttcaccatattcaagata	16	9	9	7	0	3	2	3	1	0	2	3	5	3	4	1	3	0	1	1	3	5	4			TCGA-EJ-5515-01A-01D-1576-08	TCGA-EJ-5515-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42d70e0-8083-4d69-a63f-2ae7331dd8f5	b1c94201-9a51-43a9-8d6c-75e8f0ef7420	g.chr17:33690215G>T	ENST00000394566.1	-	4	884	c.612C>A	c.(610-612)atC>atA	p.I204I	SLFN11_ENST00000308377.4_Silent_p.I204I	NM_001104587.1|NM_001104588.1|NM_001104589.1|NM_001104590.1	NP_001098057.1|NP_001098058.1|NP_001098059.1|NP_001098060.1	Q7Z7L1	SLN11_HUMAN	schlafen family member 11	204					defense response to virus (GO:0051607)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|tRNA binding (GO:0000049)	p.I204I(2)		autonomic_ganglia(1)|breast(1)|kidney(3)|large_intestine(14)|lung(17)|ovary(1)|prostate(4)|skin(2)|stomach(5)|upper_aerodigestive_tract(2)	50		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		GAAAAGGCAGGATTTCACCAT	0.413																																						ENST00000394566.1																			2	Substitution - coding silent(2)	p.I204I(2)	prostate(1)|lung(1)	autonomic_ganglia(1)|breast(1)|kidney(3)|large_intestine(14)|lung(17)|ovary(1)|prostate(4)|skin(2)|stomach(5)|upper_aerodigestive_tract(2)	50						c.(610-612)atC>atA		schlafen family member 11							123	126	125					17																	33690215		2203	4300	6503	SO:0001819	synonymous_variant	91607					nucleus	ATP binding	g.chr17:33690215G>T	AK074184	CCDS11294.1	17q12	2006-04-05			ENSG00000172716	ENSG00000172716			26633	protein-coding gene	gene with protein product		614953				12477932	Standard	NM_001104587		Approved	FLJ34922	uc010ctr.3	Q7Z7L1	OTTHUMG00000132948	ENST00000394566.1:c.612C>A	17.37:g.33690215G>T						SLFN11_ENST00000308377.4_Silent_p.I204I	p.I204I	NM_001104587.1|NM_001104588.1|NM_001104589.1|NM_001104590.1	NP_001098057.1|NP_001098058.1|NP_001098059.1|NP_001098060.1	Q7Z7L1	SLN11_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)	4	884	-		Ovarian(249;0.17)	204					E1P643|Q8N3S8|Q8N762|Q8TEE0	Silent	SNP	ENST00000394566.1	37	c.612C>A	CCDS11294.1																																																																																				0.413	SLFN11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256480.1	NM_152270		7	171	1	0	0.00198382	1	0.00246474	7	171					T	33690215	G	T	33690215	2	4	63	1	0	0	0	0	0	0	0	1	14733	1164	41	5		5	SLFN11	17	33690215	Silent	SNP	G	TCGA-EJ-5515-01A-01D-1576-08	14454912	33690215	47504995	24	3227											
ALPK2	115701	broad.mit.edu	37	chr18	56246150	56246150	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccttctttggagactgagtCtgttgaagtttgaagggttt	7	16	13	5	0	2	4	0	3	2	1	2	5	2	4	1	2	0	3	1	2	2	5			TCGA-EJ-5515-01A-01D-1576-08	TCGA-EJ-5515-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42d70e0-8083-4d69-a63f-2ae7331dd8f5	b1c94201-9a51-43a9-8d6c-75e8f0ef7420	g.chr18:56246150C>A	ENST00000361673.3	-	4	2071	c.1858G>T	c.(1858-1860)Gac>Tac	p.D620Y	ALPK2_ENST00000587399.1_5'UTR	NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	620						nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.D620Y(1)		NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						GAGACTGAGTCTGTTGAAGTT	0.473											OREG0025011	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000361673.3																			1	Substitution - Missense(1)	p.D620Y(1)	prostate(1)	NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						c.(1858-1860)Gac>Tac		alpha-kinase 2							196	181	186					18																	56246150		2203	4300	6503	SO:0001583	missense	115701						ATP binding|protein serine/threonine kinase activity	g.chr18:56246150C>A	AY044450	CCDS11966.2	18q21.31	2013-01-11			ENSG00000198796	ENSG00000198796		"Immunoglobulin superfamily / I-set domain containing"	20565	protein-coding gene	gene with protein product	"heart alpha-kinase"					10021370	Standard	NM_052947		Approved	HAK	uc002lhj.4	Q86TB3	OTTHUMG00000132755	ENST00000361673.3:c.1858G>T	18.37:g.56246150C>A	ENSP00000354991:p.Asp620Tyr		OREG0025011	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1014	ALPK2_ENST00000587399.1_5'UTR	p.D620Y	NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN			4	2071	-			620					Q6ZUX0|Q8NAT5|Q96L95	Missense_Mutation	SNP	ENST00000361673.3	37	c.1858G>T	CCDS11966.2	.	.	.	.	.	.	.	.	.	.	C	14.97	2.694981	0.48202	.	.	ENSG00000198796	ENST00000361673	T	0.53206	0.63	5.5	3.67	0.42095	.	1.773910	0.03310	N	0.190372	T	0.51770	0.1694	L	0.39898	1.24	0.09310	N	1	D	0.56521	0.976	P	0.49999	0.628	T	0.35325	-0.9793	10	0.72032	D	0.01	-2.062	8.5274	0.33313	0.1516:0.7703:0.0:0.0781	.	620	Q86TB3	ALPK2_HUMAN	Y	620	ENSP00000354991:D620Y	ENSP00000354991:D620Y	D	-	1	0	ALPK2	54397130	0.001000	0.12720	0.001000	0.08648	0.664000	0.39144	1.354000	0.34056	0.653000	0.30826	0.655000	0.94253	GAC		0.473	ALPK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256126.1	NM_052947		5	160	1	0	1	1	1	5	160					A	56246150	C	A	56246150	3	1	63	1	0	0	0	0	1	0	0	0	545	913	32	5	4694	5	ALPK2	18	56246150	Missense_Mutation	SNP	C	TCGA-EJ-5515-01A-01D-1576-08		56246150	21831098	25	3228											
RTBDN	83546	broad.mit.edu	37	chr19	12940772	12940772	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccacgtcaggccgatgggtcGcatgtggaccctgcagtcca	7	7	13	14	3	1	0	1	0	0	0	3	2	2	1	4	3	1	2	4	3	0	0	rs369791948		TCGA-EJ-5515-01A-01D-1576-08	TCGA-EJ-5515-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42d70e0-8083-4d69-a63f-2ae7331dd8f5	b1c94201-9a51-43a9-8d6c-75e8f0ef7420	g.chr19:12940772G>A	ENST00000458671.2	-	2	174	c.22C>T	c.(22-24)Cga>Tga	p.R8*	RTBDN_ENST00000592204.1_Nonsense_Mutation_p.R18*|RTBDN_ENST00000589272.1_Nonsense_Mutation_p.R40*|RTBDN_ENST00000393233.2_5'UTR|CTD-2265O21.3_ENST00000588469.1_RNA|RTBDN_ENST00000322912.5_Nonsense_Mutation_p.R40*	NM_001080997.2	NP_001074466.1	Q9BSG5	RTBDN_HUMAN	retbindin	8						extracellular region (GO:0005576)		p.R40*(1)		kidney(1)|large_intestine(5)|liver(1)|lung(4)|prostate(1)	12						CCGATGGGTCGCATGTGGACC	0.612													G|||	1	0.000199681	0	0	5008	,	,		20500	0.001		0	False		,,,				2504	0					ENST00000589272.1																			1	Substitution - Nonsense(1)	p.R40*(1)	prostate(1)	kidney(1)|large_intestine(5)|liver(1)|lung(4)|prostate(1)	12						c.(118-120)Cga>Tga		retbindin		G	stop/ARG,stop/ARG	0,4406		0,0,2203	73	61	65		22,118	2.7	0	19		65	1,8599	1.2+/-3.3	0,1,4299	no	stop-gained,stop-gained	RTBDN	NM_001080997.1,NM_031429.1	,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,	8/230,40/262	12940772	1,13005	2203	4300	6503	SO:0001587	stop_gained	83546					extracellular region		g.chr19:12940772G>A	AY028917	CCDS12283.1, CCDS45994.1, CCDS59355.1, CCDS59356.1	19p13	2006-03-22				ENSG00000132026			30310	protein-coding gene	gene with protein product		609553				12107411	Standard	NM_001080997		Approved	FLJ36353	uc002mvj.4	Q9BSG5		ENST00000458671.2:c.22C>T	19.37:g.12940772G>A	ENSP00000416375:p.Arg8*					RTBDN_ENST00000458671.2_Nonsense_Mutation_p.R8*|RTBDN_ENST00000393233.2_5'UTR|RTBDN_ENST00000322912.5_Nonsense_Mutation_p.R40*|CTD-2265O21.3_ENST00000588469.1_RNA|RTBDN_ENST00000592204.1_Nonsense_Mutation_p.R18*	p.R40*			Q9BSG5	RTBDN_HUMAN			3	447	-			8					F1T0I8|Q9BWT5	Nonsense_Mutation	SNP	ENST00000458671.2	37	c.118C>T	CCDS45994.1	.	.	.	.	.	.	.	.	.	.	G	18.47	3.631827	0.67015	0.0	1.16E-4	ENSG00000132026	ENST00000322912;ENST00000458671	.	.	.	3.74	2.66	0.31614	.	1.176700	0.06538	N	0.742766	.	.	.	.	.	.	0.20873	N	0.99984	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-4.7918	8.4236	0.32716	0.0:0.0:0.767:0.233	.	.	.	.	X	40;8	.	ENSP00000326253:R40X	R	-	1	2	RTBDN	12801772	0.000000	0.05858	0.001000	0.08648	0.013000	0.08279	0.441000	0.21611	1.116000	0.41820	0.561000	0.74099	CGA		0.612	RTBDN-003	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000451513.1	NM_031429		3	47	0	0	0	1	0	3	47					A	12940772	G	A	12940772	4	1	63	1	0	0	0	0	0	1	0	0	13717	1095	38	1	687	1	RTBDN	19	12940772	Nonsense_Mutation	SNP	G	TCGA-EJ-5515-01A-01D-1576-08		12940772	46188211	26	3229											
ZNF813	126017	broad.mit.edu	37	chr19	53993763	53993763	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gctttcaggaaattgataaaGatattcataacttagagttt	15	15	7	4	0	2	3	2	1	0	2	2	4	2	4	0	1	1	2	0	1	6	8			TCGA-EJ-5515-01A-01D-1576-08	TCGA-EJ-5515-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42d70e0-8083-4d69-a63f-2ae7331dd8f5	b1c94201-9a51-43a9-8d6c-75e8f0ef7420	g.chr19:53993763G>C	ENST00000396403.4	+	4	405	c.277G>C	c.(277-279)Gat>Cat	p.D93H	ZNF813_ENST00000396421.4_Intron	NM_001004301.3	NP_001004301.2	Q6ZN06	ZN813_HUMAN	zinc finger protein 813	93			D -> V (in dbSNP:rs12609217).		regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.D93H(1)		large_intestine(1)	1				GBM - Glioblastoma multiforme(134;0.00619)		AATTGATAAAGATATTCATAA	0.398																																						ENST00000396403.4																			1	Substitution - Missense(1)	p.D93H(1)	prostate(1)	large_intestine(1)	1						c.(277-279)Gat>Cat		zinc finger protein 813							90	96	94					19																	53993763		2196	4298	6494	SO:0001583	missense	126017				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53993763G>C	AK091460	CCDS46172.1	19q13.41	2013-01-08			ENSG00000198346	ENSG00000198346		"Zinc fingers, C2H2-type", "-"	33257	protein-coding gene	gene with protein product							Standard	NM_001004301		Approved	FLJ16542	uc002qbu.2	Q6ZN06	OTTHUMG00000158309	ENST00000396403.4:c.277G>C	19.37:g.53993763G>C	ENSP00000379684:p.Asp93His					ZNF813_ENST00000396421.4_Intron	p.D93H	NM_001004301.3	NP_001004301.2	Q6ZN06	ZN813_HUMAN		GBM - Glioblastoma multiforme(134;0.00619)	4	405	+			93		D -> V (in dbSNP:rs12609217).				Missense_Mutation	SNP	ENST00000396403.4	37	c.277G>C	CCDS46172.1	.	.	.	.	.	.	.	.	.	.	G	3.477	-0.106616	0.06924	.	.	ENSG00000198346	ENST00000468450;ENST00000396403;ENST00000490956	T;T;T	0.05717	4.02;3.4;5.1	0.467	-0.714	0.11219	.	.	.	.	.	T	0.13586	0.0329	M	0.64404	1.975	0.09310	N	1	D	0.71674	0.998	D	0.69824	0.966	T	0.20009	-1.0288	9	0.29301	T	0.29	.	1.4425	0.02357	0.3159:0.0:0.3407:0.3434	.	93	Q6ZN06	ZN813_HUMAN	H	40;93;124	ENSP00000419821:D40H;ENSP00000379684:D93H;ENSP00000418289:D124H	ENSP00000379684:D93H	D	+	1	0	ZNF813	58685575	0.051000	0.20477	0.003000	0.11579	0.139000	0.21198	0.707000	0.25704	-0.397000	0.07691	0.205000	0.17691	GAT		0.398	ZNF813-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350638.1	NM_001004301		11	145	0	0	0	1	0	11	145					C	53993763	G	C	53993763	3	2	63	1	0	0	0	0	1	0	0	0	18172	942	33	5	287	5	ZNF813	19	53993763	Missense_Mutation	SNP	G	TCGA-EJ-5515-01A-01D-1576-08	41052991	53993763	5135220	27	3230											
KCNG1	3755	broad.mit.edu	37	chr20	49620863	49620863	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caccgtcgtcatggtgatgaCagcccaccagtagcaggcag	10	6	12	13	2	1	2	1	2	0	0	2	2	1	2	3	2	2	3	3	2	1	1			TCGA-EJ-5515-01A-01D-1576-08	TCGA-EJ-5515-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42d70e0-8083-4d69-a63f-2ae7331dd8f5	b1c94201-9a51-43a9-8d6c-75e8f0ef7420	g.chr20:49620863C>A	ENST00000371571.4	-	3	1540	c.1255G>T	c.(1255-1257)Gtc>Ttc	p.V419F	RP5-955M13.4_ENST00000424566.1_RNA|KCNG1_ENST00000506387.1_5'UTR	NM_002237.3	NP_002228.2	Q9UIX4	KCNG1_HUMAN	potassium voltage-gated channel, subfamily G, member 1	419					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)	p.V419F(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						ATGGTGATGACAGCCCACCAG	0.647																																						ENST00000371571.4																			1	Substitution - Missense(1)	p.V419F(1)	prostate(1)	breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						c.(1255-1257)Gtc>Ttc		potassium voltage-gated channel, subfamily G, member 1							79	69	72					20																	49620863		2203	4300	6503	SO:0001583	missense	3755					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr20:49620863C>A	AF033383	CCDS13436.1	20q13	2011-07-05			ENSG00000026559	ENSG00000026559		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6248	protein-coding gene	gene with protein product		603788		KCNG		9434767, 16382104	Standard	NM_002237		Approved	Kv6.1, kH2, K13	uc002xwa.4	Q9UIX4	OTTHUMG00000032745	ENST00000371571.4:c.1255G>T	20.37:g.49620863C>A	ENSP00000360626:p.Val419Phe					RP5-955M13.4_ENST00000424566.1_RNA|RP5-955M13.3_ENST00000506387.1_RNA	p.V419F	NM_002237.3	NP_002228.2	Q9UIX4	KCNG1_HUMAN			3	1540	-			419					A8K3S4|O43528|Q5JXL5|Q9BRC1	Missense_Mutation	SNP	ENST00000371571.4	37	c.1255G>T	CCDS13436.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.035602	0.75617	.	.	ENSG00000026559	ENST00000371571	D	0.97186	-4.28	5.49	5.49	0.81192	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.97967	0.9331	L	0.58583	1.82	0.80722	D	1	D	0.76494	0.999	D	0.76071	0.987	D	0.97859	1.0279	9	.	.	.	.	19.3567	0.94418	0.0:1.0:0.0:0.0	.	419	Q9UIX4	KCNG1_HUMAN	F	419	ENSP00000360626:V419F	.	V	-	1	0	KCNG1	49054270	1.000000	0.71417	0.963000	0.40424	0.845000	0.48019	4.920000	0.63390	2.578000	0.87016	0.462000	0.41574	GTC		0.647	KCNG1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079726.4	NM_002237		5	81	1	0	0.014758	1	0.0168077	5	81					A	49620863	C	A	49620863	3	1	63	1	0	0	0	0	1	0	0	0	8027	478	17	5	290	5	KCNG1	20	49620863	Missense_Mutation	SNP	C	TCGA-EJ-5515-01A-01D-1576-08		49620863	13404657	28	3231											
DDX3X	1654	broad.mit.edu	37	chrX	41196665	41196665	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tctcactctcttctagtttgCtggcctagacctgaactctt	6	16	6	13	0	4	2	1	1	4	1	6	2	4	2	2	1	2	2	2	1	3	5			TCGA-EJ-5515-01A-01D-1576-08	TCGA-EJ-5515-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42d70e0-8083-4d69-a63f-2ae7331dd8f5	b1c94201-9a51-43a9-8d6c-75e8f0ef7420	g.chrX:41196665C>G	ENST00000399959.2	+	2	905	c.50C>G	c.(49-51)gCt>gGt	p.A17G	DDX3X_ENST00000441189.2_Missense_Mutation_p.A17G|DDX3X_ENST00000542215.1_Missense_Mutation_p.A61G|DDX3X_ENST00000457138.2_Missense_Mutation_p.A17G|DDX3X_ENST00000478993.1_3'UTR	NM_001193416.1|NM_001193417.1|NM_001356.3	NP_001180345.1|NP_001180346.1|NP_001347.3	O00571	DDX3X_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 3, X-linked	17	Interaction with EIF4E.|Required for TBK1 and IKBKE-dependent IFN-beta activation.				ATP catabolic process (GO:0006200)|cellular response to arsenic-containing substance (GO:0071243)|cellular response to osmotic stress (GO:0071470)|chromosome segregation (GO:0007059)|DNA duplex unwinding (GO:0032508)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|intrinsic apoptotic signaling pathway (GO:0097193)|mature ribosome assembly (GO:0042256)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of protein complex assembly (GO:0031333)|negative regulation of translation (GO:0017148)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell growth (GO:0030307)|positive regulation of chemokine (C-C motif) ligand 5 production (GO:0071651)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of translation (GO:0045727)|positive regulation of translational initiation (GO:0045948)|response to virus (GO:0009615)|RNA secondary structure unwinding (GO:0010501)|stress granule assembly (GO:0034063)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|extracellular vesicular exosome (GO:0070062)|mitochondrial outer membrane (GO:0005741)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|ATP-dependent RNA helicase activity (GO:0004004)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|eukaryotic initiation factor 4E binding (GO:0008190)|mRNA 5'-UTR binding (GO:0048027)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)|ribosomal small subunit binding (GO:0043024)|RNA binding (GO:0003723)|RNA stem-loop binding (GO:0035613)|transcription factor binding (GO:0008134)|translation initiation factor binding (GO:0031369)	p.A17G(2)		NS(3)|breast(8)|central_nervous_system(36)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84						TTCTAGTTTGCTGGCCTAGAC	0.418										HNSCC(61;0.18)																												ENST00000399959.2																			2	Substitution - Missense(2)	p.A17G(2)	prostate(2)	NS(3)|breast(8)|central_nervous_system(36)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84						c.(49-51)gCt>gGt		DEAD (Asp-Glu-Ala-Asp) box helicase 3, X-linked							129	116	120					X																	41196665		1905	4121	6026	SO:0001583	missense	1654				interspecies interaction between organisms	cytoplasm|nuclear speck	ATP binding|ATP-dependent RNA helicase activity|DNA binding|protein binding|RNA binding	g.chrX:41196665C>G	U50553	CCDS43931.1, CCDS55404.1	Xp11.3-p11.23	2013-07-16	2013-07-16	2003-06-20	ENSG00000215301	ENSG00000215301		"DEAD-boxes"	2745	protein-coding gene	gene with protein product		300160	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 3", "DEAD (Asp-Glu-Ala-Asp) box polypeptide 3, X-linked"	DDX3		9381176, 9730595	Standard	NM_001193416		Approved	DBX, HLP2, DDX14	uc004dfe.3	O00571	OTTHUMG00000021369	ENST00000399959.2:c.50C>G	X.37:g.41196665C>G	ENSP00000382840:p.Ala17Gly	HNSCC(61;0.18)				DDX3X_ENST00000441189.2_Missense_Mutation_p.A17G|DDX3X_ENST00000478993.1_3'UTR|DDX3X_ENST00000457138.2_Missense_Mutation_p.A17G|DDX3X_ENST00000542215.1_Missense_Mutation_p.A61G	p.A17G	NM_001193416.1|NM_001193417.1|NM_001356.3	NP_001180345.1|NP_001180346.1|NP_001347.3	O00571	DDX3X_HUMAN			2	905	+			17					A8K538|B4E3E8|O15536	Missense_Mutation	SNP	ENST00000399959.2	37	c.50C>G	CCDS43931.1	.	.	.	.	.	.	.	.	.	.	C	18.44	3.623728	0.66901	.	.	ENSG00000215301	ENST00000399959;ENST00000457138;ENST00000441189;ENST00000542215	T;T;T	0.48201	1.94;1.85;0.82	5.28	4.4	0.53042	.	0.161122	0.53938	D	0.000048	T	0.46776	0.1410	M	0.81942	2.565	0.52501	D	0.999957	P;B;B;B;B;B	0.35872	0.525;0.248;0.013;0.451;0.437;0.295	B;B;B;B;B;B	0.30316	0.081;0.114;0.023;0.112;0.037;0.037	T	0.49854	-0.8895	10	0.25751	T	0.34	-12.7037	13.9533	0.64131	0.0:0.9205:0.0:0.0795	.	17;17;17;17;29;17	B4DLA0;B4DLU5;B4E3E8;B5BTY4;Q59GX6;O00571	.;.;.;.;.;DDX3X_HUMAN	G	17;17;17;61	ENSP00000382840:A17G;ENSP00000392494:A17G;ENSP00000439799:A61G	ENSP00000382840:A17G	A	+	2	0	DDX3X	41081609	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	6.942000	0.75928	2.341000	0.79615	0.513000	0.50165	GCT		0.418	DDX3X-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056253.1	NM_024005		3	38	0	0	0	1	0	3	38					G	41196665	C	G	41196665	3	3	63	1	0	0	0	0	1	0	0	0	4358	797	28	5	56	5	DDX3X	23	41196665	Missense_Mutation	SNP	C	TCGA-EJ-5515-01A-01D-1576-08		41196665	114073895	29	3232											
DKC1	1736	broad.mit.edu	37	chrX	153994551	153994551	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	tcccatgaggtggtagcctgGattcgacggatacttcgggt	7	11	14	9	3	0	1	0	1	0	0	3	4	1	3	2	5	2	1	2	5	2	4			TCGA-EJ-5515-01A-01D-1576-08	TCGA-EJ-5515-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42d70e0-8083-4d69-a63f-2ae7331dd8f5	b1c94201-9a51-43a9-8d6c-75e8f0ef7420	g.chrX:153994551G>C	ENST00000369550.5	+	5	534	c.324G>C	c.(322-324)tgG>tgC	p.W108C	SNORA36A_ENST00000384221.1_RNA	NM_001142463.1|NM_001363.3	NP_001135935.1|NP_001354.1	O60832	DKC1_HUMAN	dyskeratosis congenita 1, dyskerin	108					cell proliferation (GO:0008283)|pseudouridine synthesis (GO:0001522)|RNA processing (GO:0006396)|rRNA processing (GO:0006364)|telomere maintenance (GO:0000723)|telomere maintenance via telomerase (GO:0007004)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|telomerase holoenzyme complex (GO:0005697)	poly(A) RNA binding (GO:0044822)|pseudouridine synthase activity (GO:0009982)|RNA binding (GO:0003723)|telomerase activity (GO:0003720)	p.W108C(2)		breast(2)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)|prostate(1)	15	all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					TGGTAGCCTGGATTCGACGGA	0.478									Congenital Dyskeratosis																													ENST00000369550.5																			2	Substitution - Missense(2)	p.W108C(2)	prostate(2)	breast(2)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)|prostate(1)	15						c.(322-324)tgG>tgC		dyskeratosis congenita 1, dyskerin							111	104	106					X																	153994551		2203	4300	6503	SO:0001583	missense	1736	Congenital Dyskeratosis	Familial Cancer Database	Zinsser-Engman-Cole syndrome, Dyskeratosis Congenita	cell proliferation|pseudouridine synthesis|rRNA processing|telomere maintenance via telomerase	Cajal body|nucleolus|telomerase holoenzyme complex	protein binding|pseudouridine synthase activity|RNA binding|telomerase activity	g.chrX:153994551G>C	AJ224481	CCDS14761.1, CCDS76062.1	Xq28	2014-09-17			ENSG00000130826	ENSG00000130826			2890	protein-coding gene	gene with protein product		300126		DKC		9590285, 9888995	Standard	NM_001142463		Approved	XAP101, dyskerin, NAP57, NOLA4	uc004fmm.3	O60832	OTTHUMG00000024242	ENST00000369550.5:c.324G>C	X.37:g.153994551G>C	ENSP00000358563:p.Trp108Cys						p.W108C	NM_001142463.1|NM_001363.3	NP_001135935.1|NP_001354.1	O60832	DKC1_HUMAN			5	534	+	all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)		108					F5BSB3|O43845|Q96G67|Q9Y505	Missense_Mutation	SNP	ENST00000369550.5	37	c.324G>C	CCDS14761.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.53|19.53	3.844944|3.844944	0.71603|0.71603	.|.	.|.	ENSG00000130826|ENSG00000130826	ENST00000437719|ENST00000369550;ENST00000413910	.|D;D	.|0.88818	.|-2.43;-2.43	5.81|5.81	4.93|4.93	0.64822|0.64822	.|Pseudouridine synthase, catalytic domain (1);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.96402|0.96402	0.8826|0.8826	H|H	0.97315|0.97315	3.98|3.98	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.80764	.|0.977;0.994	D|D	0.97225|0.97225	0.9880|0.9880	5|10	.|0.87932	.|D	.|0	-14.4226|-14.4226	13.9035|13.9035	0.63819|0.63819	0.0:0.0:0.8465:0.1535|0.0:0.0:0.8465:0.1535	.|.	.|108;108	.|A8MUT5;O60832	.|.;DKC1_HUMAN	H|C	94|108	.|ENSP00000358563:W108C;ENSP00000400542:W108C	.|ENSP00000358563:W108C	D|W	+|+	1|3	0|0	DKC1|DKC1	153647745|153647745	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.989000|0.989000	0.77384|0.77384	9.309000|9.309000	0.96252|0.96252	1.184000|1.184000	0.42957|0.42957	0.513000|0.513000	0.50165|0.50165	GAT|TGG		0.478	DKC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061180.5	NM_001363		5	59	0	0	0	1	0	5	59					C	153994551	G	C	153994551	3	2	63	1	0	0	0	0	1	0	0	0	4542	1183	41	5	342	5	DKC1	23	153994551	Missense_Mutation	SNP	G	TCGA-EJ-5515-01A-01D-1576-08	112797886	153994551	1276009	30	3233											
VPS13D	55187	broad.mit.edu	37	chr1	12336133	12336133	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acctccagatcatggttggaCgagtgaaagacaattggaag	14	8	12	7	1	1	3	1	1	0	2	2	6	2	5	2	3	0	1	2	3	3	2			TCGA-EJ-5516-01A-01D-1576-08	TCGA-EJ-5516-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dbdfe2-f446-463e-847c-885759682c43	b4bf3137-c8ca-4491-bbfc-3d864e521faf	g.chr1:12336133C>T	ENST00000358136.3	+	19	2618	c.2488C>T	c.(2488-2490)Cga>Tga	p.R830*	VPS13D_ENST00000356315.4_Nonsense_Mutation_p.R830*	NM_015378.2	NP_056193.2			vacuolar protein sorting 13 homolog D (S. cerevisiae)									p.R830*(1)		NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		CATGGTTGGACGAGTGAAAGA	0.438											OREG0013110	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000358136.3																			1	Substitution - Nonsense(1)	p.R830*(1)	prostate(1)	NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130						c.(2488-2490)Cga>Tga		vacuolar protein sorting 13 homolog D (S. cerevisiae)							104	93	97					1																	12336133		2203	4300	6503	SO:0001587	stop_gained	55187				protein localization			g.chr1:12336133C>T	AJ608774	CCDS30588.1, CCDS30589.1	1p36.21	2008-02-05	2006-04-04		ENSG00000048707	ENSG00000048707			23595	protein-coding gene	gene with protein product		608877	"vacuolar protein sorting 13D (yeast)"				Standard	NM_015378		Approved	FLJ10619, KIAA0453	uc001atv.3	Q5THJ4	OTTHUMG00000013155	ENST00000358136.3:c.2488C>T	1.37:g.12336133C>T	ENSP00000350854:p.Arg830*		OREG0013110	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	679	VPS13D_ENST00000356315.4_Nonsense_Mutation_p.R830*	p.R830*	NM_015378.2	NP_056193.2	Q5THJ4	VP13D_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)	19	2618	+	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)	830						Nonsense_Mutation	SNP	ENST00000358136.3	37	c.2488C>T	CCDS30588.1	.	.	.	.	.	.	.	.	.	.	C	41	8.551527	0.98859	.	.	ENSG00000048707	ENST00000356315;ENST00000358136	.	.	.	5.87	4.95	0.65309	.	0.213048	0.41001	D	0.000963	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	16.127	0.81402	0.1415:0.8585:0.0:0.0	.	.	.	.	X	830	.	ENSP00000348666:R830X	R	+	1	2	VPS13D	12258720	0.998000	0.40836	0.986000	0.45419	0.996000	0.88848	4.654000	0.61469	1.453000	0.47775	0.655000	0.94253	CGA		0.438	VPS13D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000036897.2	NM_015378		5	70	0	0	0	1	0	5	70					T	12336133	C	T	12336133	4	4	64	1	0	0	0	0	0	1	0	0	17189	528	19	1	2558	1	VPS13D	1	12336133	Nonsense_Mutation	SNP	C	TCGA-EJ-5516-01A-01D-1576-08		12336133	236914488	1	3234											
L1TD1	54596	broad.mit.edu	37	chr1	62672762	62672762	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aacactaacgaatacaatagTaatgatggtaagaaattacc	20	9	6	6	1	0	2	0	1	0	1	0	3	0	2	1	1	4	2	1	1	10	6	rs373993863		TCGA-EJ-5516-01A-01D-1576-08	TCGA-EJ-5516-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dbdfe2-f446-463e-847c-885759682c43	b4bf3137-c8ca-4491-bbfc-3d864e521faf	g.chr1:62672762T>A	ENST00000498273.1	+	3	757	c.462T>A	c.(460-462)agT>agA	p.S154R		NM_001164835.1|NM_019079.4	NP_001158307.1|NP_061952.3	Q5T7N2	LITD1_HUMAN	LINE-1 type transposase domain containing 1	154								p.S154R(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	35						aatacaatagtaatgatggta	0.333																																						ENST00000498273.1																			1	Substitution - Missense(1)	p.S154R(1)	prostate(1)	breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	35						c.(460-462)agT>agA		LINE-1 type transposase domain containing 1							25	28	27					1																	62672762		2195	4297	6492	SO:0001583	missense	54596							g.chr1:62672762T>A	BC060808	CCDS619.1	1p31.3	2009-01-12			ENSG00000240563	ENSG00000240563			25595	protein-coding gene	gene with protein product						12477932	Standard	NM_001164835		Approved	FLJ10884, ECAT11	uc001dae.4	Q5T7N2	OTTHUMG00000008914	ENST00000498273.1:c.462T>A	1.37:g.62672762T>A	ENSP00000419901:p.Ser154Arg						p.S154R	NM_001164835.1|NM_019079.4	NP_001158307.1|NP_061952.3	Q5T7N2	LITD1_HUMAN			3	757	+			154					Q8NDA1|Q9NUV8|Q9NV78	Missense_Mutation	SNP	ENST00000498273.1	37	c.462T>A	CCDS619.1	.	.	.	.	.	.	.	.	.	.	T	1.180	-0.638351	0.03557	.	.	ENSG00000240563	ENST00000498273	T	0.15372	2.43	1.92	-3.83	0.04269	.	.	.	.	.	T	0.06508	0.0167	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.31392	-0.9945	9	0.24483	T	0.36	.	4.6205	0.12447	0.0:0.3116:0.3117:0.3767	.	154	Q5T7N2	LITD1_HUMAN	R	154	ENSP00000419901:S154R	ENSP00000419901:S154R	S	+	3	2	L1TD1	62445350	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-1.676000	0.01946	-2.314000	0.00647	-2.381000	0.00232	AGT		0.333	L1TD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024688.1	NM_019079		4	42	0	0	0	1	0	4	42					A	62672762	T	A	62672762	3	1	64	1	0	0	0	0	1	0	0	0	8589	1635	57	5	464	5	L1TD1	1	62672762	Missense_Mutation	SNP	T	TCGA-EJ-5516-01A-01D-1576-08	50336629	62672762	186577859	2	3235											
HFM1	164045	broad.mit.edu	37	chr1	91843738	91843738	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttttcatcttttacaatatgTacctaagcaggaaatcaaga	15	14	5	7	0	3	1	2	0	1	1	3	2	3	2	1	1	3	2	1	1	7	7			TCGA-EJ-5516-01A-01D-1576-08	TCGA-EJ-5516-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dbdfe2-f446-463e-847c-885759682c43	b4bf3137-c8ca-4491-bbfc-3d864e521faf	g.chr1:91843738T>A	ENST00000370425.3	-	11	1337	c.1239A>T	c.(1237-1239)gtA>gtT	p.V413V	HFM1_ENST00000370424.3_Silent_p.V92V|HFM1_ENST00000294696.5_5'UTR	NM_001017975.3	NP_001017975.3	A2PYH4	HFM1_HUMAN	HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae)	413	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				resolution of meiotic recombination intermediates (GO:0000712)		ATP binding (GO:0005524)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)	p.V413V(1)		breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	75		all_lung(203;0.00961)|Lung NSC(277;0.0351)		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)		TTACAATATGTACCTAAGCAG	0.274																																						ENST00000370425.3																			1	Substitution - coding silent(1)	p.V413V(1)	prostate(1)	breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	75						c.(1237-1239)gtA>gtT		HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae)							52	46	48					1																	91843738		1803	4079	5882	SO:0001819	synonymous_variant	164045						ATP binding|ATP-dependent helicase activity|nucleic acid binding	g.chr1:91843738T>A	AB204867	CCDS30769.2	1p22.2	2008-03-26			ENSG00000162669	ENSG00000162669			20193	protein-coding gene	gene with protein product		615684	"SEC63 domain containing 1"	SEC63D1		14702039, 17286053	Standard	XM_006710395		Approved	MER3, FLJ39011, FLJ36760	uc001doa.4	A2PYH4	OTTHUMG00000010093	ENST00000370425.3:c.1239A>T	1.37:g.91843738T>A						HFM1_ENST00000370424.3_Silent_p.V92V|HFM1_ENST00000294696.5_5'UTR	p.V413V	NM_001017975.3	NP_001017975.3	A2PYH4	HFM1_HUMAN		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)	11	1337	-		all_lung(203;0.00961)|Lung NSC(277;0.0351)	413			Helicase ATP-binding.		B1B0B6|Q8N9Q0	Silent	SNP	ENST00000370425.3	37	c.1239A>T	CCDS30769.2																																																																																				0.274	HFM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316716.2	NM_001017975		5	89	0	0	0	1	0	5	89					A	91843738	T	A	91843738	2	1	64	1	0	0	0	0	0	0	0	1	7083	1625	57	5		5	HFM1	1	91843738	Silent	SNP	T	TCGA-EJ-5516-01A-01D-1576-08	29170976	91843738	157406883	3	3236											
SPRR3	6707	broad.mit.edu	37	chr1	152975765	152975765	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caaggtccctgagccaggctGtaccaaggtccctgagccag	9	6	12	14	0	0	2	0	2	0	0	2	2	2	2	5	3	3	2	5	3	3	1			TCGA-EJ-5516-01A-01D-1576-08	TCGA-EJ-5516-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dbdfe2-f446-463e-847c-885759682c43	b4bf3137-c8ca-4491-bbfc-3d864e521faf	g.chr1:152975765G>T	ENST00000295367.4	+	2	311	c.269G>T	c.(268-270)tGt>tTt	p.C90F	SPRR3_ENST00000542696.1_Missense_Mutation_p.C90F|SPRR3_ENST00000331860.3_Missense_Mutation_p.C90F	NM_001097589.1	NP_001091058.1	Q9UBC9	SPRR3_HUMAN	small proline-rich protein 3	90	14 X 8 AA approximate tandem repeats.				epidermis development (GO:0008544)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	structural molecule activity (GO:0005198)	p.C90F(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	11	Lung NSC(65;1.49e-28)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			GAGCCAGGCTGTACCAAGGTC	0.602																																						ENST00000331860.3																			1	Substitution - Missense(1)	p.C90F(1)	prostate(1)	endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	11						c.(268-270)tGt>tTt		small proline-rich protein 3							74	62	66					1																	152975765		2203	4299	6502	SO:0001583	missense	6707				keratinization|peptide cross-linking|wound healing	cytoplasm	protein binding|structural molecule activity	g.chr1:152975765G>T	AY118269	CCDS1033.1	1q21-q22	2008-02-05			ENSG00000163209	ENSG00000163209			11268	protein-coding gene	gene with protein product		182271				8325635	Standard	NM_005416		Approved		uc001faz.4	Q9UBC9	OTTHUMG00000013872	ENST00000295367.4:c.269G>T	1.37:g.152975765G>T	ENSP00000295367:p.Cys90Phe					SPRR3_ENST00000295367.4_Missense_Mutation_p.C90F|SPRR3_ENST00000542696.1_Missense_Mutation_p.C90F	p.C90F	NM_005416.2	NP_005407.1	Q9UBC9	SPRR3_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		3	419	+	Lung NSC(65;1.49e-28)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		90			14 X 8 AA approximate tandem repeats.		A5YKK8|B2R4G8|D3DV32|O75597|Q4ZGI7|Q5T525|Q8NET7|Q9UDG3	Missense_Mutation	SNP	ENST00000295367.4	37	c.269G>T	CCDS1033.1	.	.	.	.	.	.	.	.	.	.	-	0.798	-0.756400	0.03019	.	.	ENSG00000163209	ENST00000331860;ENST00000443178;ENST00000295367;ENST00000542696	T;T;T;T	0.11821	2.8;2.8;2.8;2.74	4.65	0.917	0.19380	.	.	.	.	.	T	0.01905	0.0060	N	0.22421	0.69	0.09310	N	1	B;B	0.27416	0.112;0.178	B;B	0.28385	0.019;0.089	T	0.48352	-0.9043	9	0.10111	T	0.7	.	4.6005	0.12350	0.6316:0.1721:0.1962:0.0	.	82;90	F5GZ12;Q9UBC9	.;SPRR3_HUMAN	F	90	ENSP00000330391:C90F;ENSP00000402016:C90F;ENSP00000295367:C90F;ENSP00000441477:C90F	ENSP00000295367:C90F	C	+	2	0	SPRR3	151242389	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.406000	0.07187	-0.031000	0.13781	-0.513000	0.04457	TGT		0.602	SPRR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000038910.1	NM_005416		21	82	1	0	3.62473e-10	1	3.84441e-10	21	82					T	152975765	G	T	152975765	3	4	64	1	0	0	0	0	1	0	0	0	15102	1377	48	5	271	5	SPRR3	1	152975765	Missense_Mutation	SNP	G	TCGA-EJ-5516-01A-01D-1576-08	61132027	152975765	96274856	4	3237											
CD1E	913	broad.mit.edu	37	chr1	158325255	158325255	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	catctgtaaagtgctcaatcGctacctagatattaaggaaa	15	11	7	8	1	2	1	1	0	1	1	3	2	2	2	1	1	2	3	1	1	8	5			TCGA-EJ-5516-01A-01D-1576-08	TCGA-EJ-5516-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dbdfe2-f446-463e-847c-885759682c43	b4bf3137-c8ca-4491-bbfc-3d864e521faf	g.chr1:158325255G>T	ENST00000368167.3	+	3	760	c.521G>T	c.(520-522)cGc>cTc	p.R174L	CD1E_ENST00000444681.2_Missense_Mutation_p.R75L|CD1E_ENST00000368161.3_Missense_Mutation_p.R174L|CD1E_ENST00000368156.1_Intron|CD1E_ENST00000368164.3_Intron|CD1E_ENST00000434258.1_Missense_Mutation_p.R172L|CD1E_ENST00000368163.3_Missense_Mutation_p.R174L|CD1E_ENST00000452291.2_Intron|CD1E_ENST00000368165.3_Intron|CD1E_ENST00000368160.3_Missense_Mutation_p.R174L|CD1E_ENST00000368157.1_Intron|CD1E_ENST00000368166.3_Intron|CD1E_ENST00000368154.1_Intron|CD1E_ENST00000368155.3_Intron	NM_030893.3	NP_112155.2	P15812	CD1E_HUMAN	CD1e molecule	174					antigen processing and presentation (GO:0019882)|immune response (GO:0006955)	endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)	lipid binding (GO:0008289)	p.R174L(2)		breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(27)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|urinary_tract(1)	49	all_hematologic(112;0.0378)					GTGCTCAATCGCTACCTAGAT	0.507																																						ENST00000444681.2																			2	Substitution - Missense(2)	p.R174L(2)	prostate(1)|lung(1)	breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(27)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|urinary_tract(1)	49						c.(223-225)cGc>cTc		CD1e molecule							78	78	78					1																	158325255		1890	4122	6012	SO:0001583	missense	913				antigen processing and presentation|immune response	early endosome|Golgi membrane|integral to plasma membrane|late endosome|lysosomal lumen		g.chr1:158325255G>T	AJ289111	CCDS41417.1, CCDS41418.1, CCDS41419.1, CCDS41420.1, CCDS41421.1, CCDS41422.1, CCDS53387.1, CCDS53388.1, CCDS53389.1, CCDS53390.1, CCDS53384.1, CCDS53385.1, CCDS53386.1	1q23.1	2014-01-14	2006-03-28		ENSG00000158488	ENSG00000158488		"CD molecules", "Immunoglobulin superfamily / C1-set domain containing"	1638	protein-coding gene	gene with protein product		188411	"CD1E antigen, e polypeptide", "CD1e antigen"			10948205	Standard	NM_001042585		Approved		uc001fse.3	P15812	OTTHUMG00000017515	ENST00000368167.3:c.521G>T	1.37:g.158325255G>T	ENSP00000357149:p.Arg174Leu					CD1E_ENST00000368156.1_Intron|CD1E_ENST00000368163.3_Missense_Mutation_p.R174L|CD1E_ENST00000368160.3_Missense_Mutation_p.R174L|CD1E_ENST00000368166.3_Intron|CD1E_ENST00000368155.3_Intron|CD1E_ENST00000368167.3_Missense_Mutation_p.R174L|CD1E_ENST00000368161.3_Missense_Mutation_p.R174L|CD1E_ENST00000368165.3_Intron|CD1E_ENST00000368154.1_Intron|CD1E_ENST00000368157.1_Intron|CD1E_ENST00000368164.3_Intron|CD1E_ENST00000452291.2_Intron|CD1E_ENST00000434258.1_Missense_Mutation_p.R172L	p.R75L	NM_001185114.1	NP_001172043.1	P15812	CD1E_HUMAN			2	517	+	all_hematologic(112;0.0378)		174					B4DZV3|E7EP01|Q5TDJ9|Q5TDK3|Q5TDK4|Q5TDK5|Q5TDK6|Q5TDK8|Q5TDL1|Q712E4|Q712E5|Q712E6|Q712E7|Q712E8|Q712E9|Q712F0|Q712F1|Q712F2|Q712F3|Q712F4|Q712F5|Q96TD0|Q96TD1|Q9UMM1|Q9Y5M3	Missense_Mutation	SNP	ENST00000368167.3	37	c.224G>T	CCDS41417.1	.	.	.	.	.	.	.	.	.	.	G	4.243	0.043976	0.08196	.	.	ENSG00000158488	ENST00000434258;ENST00000444681;ENST00000368167;ENST00000368163;ENST00000368160;ENST00000368161	T;T;T;T;T;T	0.19105	2.17;3.3;2.17;2.17;2.17;2.17	4.53	-9.07	0.00724	MHC classes I/II-like antigen recognition protein (1);MHC class I-like antigen recognition (1);	3.060610	0.01167	N	0.006772	T	0.02047	0.0064	N	0.04203	-0.255	0.09310	N	1	B;B;B;B;B;B;B	0.09022	0.0;0.002;0.0;0.0;0.0;0.0;0.0	B;B;B;B;B;B;B	0.04013	0.001;0.001;0.001;0.001;0.0;0.001;0.001	T	0.15206	-1.0445	10	0.30854	T	0.27	1.2295	7.0812	0.25231	0.2833:0.0971:0.5237:0.0959	.	75;172;75;174;174;174;174	B4E042;E7ET31;E7EP01;P15812-2;P15812;P15812-3;P15812-4	.;.;.;.;CD1E_HUMAN;.;.	L	172;75;174;174;174;174	ENSP00000401957:R172L;ENSP00000402906:R75L;ENSP00000357149:R174L;ENSP00000357145:R174L;ENSP00000357142:R174L;ENSP00000357143:R174L	ENSP00000357142:R174L	R	+	2	0	CD1E	156591879	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-3.102000	0.00603	-2.758000	0.00371	-1.987000	0.00451	CGC		0.507	CD1E-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000046353.3	NM_030893		38	140	1	0	4.62619e-21	1	5.05989e-21	38	140					T	158325255	G	T	158325255	3	4	64	1	0	0	0	0	1	0	0	0	2978	1087	38	5	531	5	CD1E	1	158325255	Missense_Mutation	SNP	G	TCGA-EJ-5516-01A-01D-1576-08	5349490	158325255	90925366	5	3238											
THUMPD2	80745	broad.mit.edu	37	chr2	39982551	39982551	+	Splice_Site	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cacctacataatacacatccTatggggaaataaatatttta	17	12	4	8	0	0	0	0	0	0	0	1	1	1	1	2	2	2	0	2	2	9	8			TCGA-EJ-5516-01A-01D-1576-08	TCGA-EJ-5516-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dbdfe2-f446-463e-847c-885759682c43	b4bf3137-c8ca-4491-bbfc-3d864e521faf	g.chr2:39982551T>A	ENST00000505747.1	-	8	991		c.e8-2		THUMPD2_ENST00000260619.6_Splice_Site	NM_025264.4	NP_079540.2	Q9BTF0	THUM2_HUMAN	THUMP domain containing 2								methyltransferase activity (GO:0008168)|RNA binding (GO:0003723)			endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|skin(1)	17		all_hematologic(82;0.248)				ATACACATCCTATGGGGAAAT	0.323																																						ENST00000505747.1																			0				endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|skin(1)	17						c.e8-2		THUMP domain containing 2							40	41	41					2																	39982551		2201	4300	6501	SO:0001630	splice_region_variant	80745						methyltransferase activity	g.chr2:39982551T>A	AF380576	CCDS1805.1, CCDS1805.2	2p22.2	2004-06-04	2004-06-04	2004-06-04	ENSG00000138050	ENSG00000138050			14890	protein-coding gene	gene with protein product		611751	"chromosome 2 open reading frame 8"	C2orf8		12063391	Standard	NM_025264		Approved	MGC2454	uc002rru.2	Q9BTF0	OTTHUMG00000102149	ENST00000505747.1:c.964-2A>T	2.37:g.39982551T>A						THUMPD2_ENST00000260619.6_Splice_Site		NM_025264.4	NP_079540.2	Q9BTF0	THUM2_HUMAN			8	991	-		all_hematologic(82;0.248)						A8K7I7|Q53TT8|Q53TV0	Splice_Site	SNP	ENST00000505747.1	37		CCDS1805.2	.	.	.	.	.	.	.	.	.	.	T	15.96	2.986484	0.53934	.	.	ENSG00000138050	ENST00000505747;ENST00000260619	.	.	.	5.42	5.42	0.78866	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.8516	0.52415	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	THUMPD2	39836055	1.000000	0.71417	0.071000	0.20095	0.868000	0.49771	4.675000	0.61619	2.053000	0.61076	0.379000	0.24179	.		0.323	THUMPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219991.2	NM_025264	Intron	4	77	0	0	0	1	0	4	77					A	39982551	T	A	39982551	5	1	64	1	0	0	0	0	0	0	1	0	15880	1536	53	5	561	5	THUMPD2	2	39982551	Splice_Site	SNP	T	TCGA-EJ-5516-01A-01D-1576-08		39982551	203216822	6	3239											
KDM3A	55818	broad.mit.edu	37	chr2	86705343	86705343	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aatgtgtgaagagtcagataCatgaaccagagaacttaatg	17	9	10	5	0	1	5	1	2	0	3	1	6	1	5	1	0	3	0	1	0	6	2			TCGA-EJ-5516-01A-01D-1576-08	TCGA-EJ-5516-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dbdfe2-f446-463e-847c-885759682c43	b4bf3137-c8ca-4491-bbfc-3d864e521faf	g.chr2:86705343C>T	ENST00000409556.1	+	15	2508	c.2143C>T	c.(2143-2145)Cat>Tat	p.H715Y	KDM3A_ENST00000542128.1_Missense_Mutation_p.H663Y|KDM3A_ENST00000312912.5_Missense_Mutation_p.H715Y|KDM3A_ENST00000409064.1_Missense_Mutation_p.H715Y			Q9Y4C1	KDM3A_HUMAN	lysine (K)-specific demethylase 3A	715					androgen receptor signaling pathway (GO:0030521)|formaldehyde biosynthetic process (GO:0046293)|histone H3-K9 demethylation (GO:0033169)|histone H3-K9 dimethylation (GO:0036123)|hormone-mediated signaling pathway (GO:0009755)|negative regulation of histone H3-K9 methylation (GO:0051573)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|spermatid nucleus elongation (GO:0007290)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|core promoter binding (GO:0001047)|dioxygenase activity (GO:0051213)|iron ion binding (GO:0005506)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)	p.H715Y(2)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|liver(1)|lung(13)|ovary(1)|prostate(3)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	47						GAGTCAGATACATGAACCAGA	0.408																																					NSCLC(96;1150 1523 6936 46253 49736)	ENST00000409556.1																			2	Substitution - Missense(2)	p.H715Y(2)	prostate(2)	NS(1)|breast(3)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|liver(1)|lung(13)|ovary(1)|prostate(3)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	47						c.(2143-2145)Cat>Tat		lysine (K)-specific demethylase 3A							138	137	137					2																	86705343		2203	4300	6503	SO:0001583	missense	55818				androgen receptor signaling pathway|cell differentiation|formaldehyde biosynthetic process|histone H3-K9 demethylation|hormone-mediated signaling pathway|positive regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	cytoplasm|nucleus	androgen receptor binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr2:86705343C>T	AB018285	CCDS1990.1	2p11.2	2011-07-01	2009-04-06	2009-04-06	ENSG00000115548	ENSG00000115548		"Chromatin-modifying enzymes / K-demethylases"	20815	protein-coding gene	gene with protein product	"jumonji C domain-containing histone demethylase 2A"	611512	"jumonji domain containing 1", "jumonji domain containing 1A"	JMJD1, JMJD1A		9872452	Standard	NM_018433		Approved	TSGA, KIAA0742, JHMD2A	uc010ytj.2	Q9Y4C1	OTTHUMG00000130204	ENST00000409556.1:c.2143C>T	2.37:g.86705343C>T	ENSP00000386660:p.His715Tyr					KDM3A_ENST00000312912.5_Missense_Mutation_p.H715Y|KDM3A_ENST00000409064.1_Missense_Mutation_p.H715Y|KDM3A_ENST00000542128.1_Missense_Mutation_p.H663Y	p.H715Y			Q9Y4C1	KDM3A_HUMAN			15	2508	+			715					D6W5M3|Q53S72|Q68D47|Q68UT9|Q6N050|Q8IY08	Missense_Mutation	SNP	ENST00000409556.1	37	c.2143C>T	CCDS1990.1	.	.	.	.	.	.	.	.	.	.	C	24.9	4.584363	0.86748	.	.	ENSG00000115548	ENST00000409556;ENST00000540058;ENST00000312912;ENST00000409064;ENST00000542128	D;D;D;D	0.81579	-1.5;-1.5;-1.5;-1.51	5.84	4.96	0.65561	.	0.000000	0.85682	D	0.000000	D	0.90202	0.6937	M	0.84511	2.7	0.51233	D	0.999918	D;D	0.89917	0.999;1.0	D;D	0.91635	0.999;0.999	D	0.91700	0.5373	10	0.87932	D	0	.	14.1958	0.65670	0.0:0.9284:0.0:0.0716	.	663;715	F5H070;Q9Y4C1	.;KDM3A_HUMAN	Y	715;715;715;715;663	ENSP00000386660:H715Y;ENSP00000323659:H715Y;ENSP00000386516:H715Y;ENSP00000438324:H663Y	ENSP00000323659:H715Y	H	+	1	0	KDM3A	86558854	1.000000	0.71417	0.979000	0.43373	0.997000	0.91878	7.818000	0.86416	1.475000	0.48197	0.655000	0.94253	CAT		0.408	KDM3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252522.2	NM_018433		27	159	0	0	0	1	0	27	159					T	86705343	C	T	86705343	3	4	64	1	0	0	0	0	1	0	0	0	8126	478	17	3	2193	3	KDM3A	2	86705343	Missense_Mutation	SNP	C	TCGA-EJ-5516-01A-01D-1576-08	46722792	86705343	156494030	7	3240											
IL1RL2	8808	broad.mit.edu	37	chr2	102842427	102842427	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgtggctgtgtctgttgtgtAcatatacaacatttttaaga	10	17	9	5	0	1	1	0	0	1	1	1	1	1	1	0	1	3	3	0	1	5	7			TCGA-EJ-5516-01A-01D-1576-08	TCGA-EJ-5516-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dbdfe2-f446-463e-847c-885759682c43	b4bf3137-c8ca-4491-bbfc-3d864e521faf	g.chr2:102842427A>T	ENST00000264257.2	+	9	1187	c.1061A>T	c.(1060-1062)tAc>tTc	p.Y354F	IL1RL2_ENST00000481806.1_3'UTR|IL1RL2_ENST00000539491.1_Missense_Mutation_p.Y354F|IL1RL2_ENST00000441515.2_Missense_Mutation_p.Y236F	NM_003854.2	NP_003845.2	Q9HB29	ILRL2_HUMAN	interleukin 1 receptor-like 2	354					cellular defense response (GO:0006968)|cytokine-mediated signaling pathway (GO:0019221)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of T cell differentiation (GO:0045582)|regulation of inflammatory response (GO:0050727)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)	interleukin-1 receptor activity (GO:0004908)|interleukin-1, Type I, activating receptor activity (GO:0004909)	p.Y236F(1)|p.Y354F(1)		breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|liver(2)|lung(8)|ovary(2)|prostate(1)	26						TCTGTTGTGTACATATACAAC	0.383																																						ENST00000264257.2																			2	Substitution - Missense(2)	p.Y236F(1)|p.Y354F(1)	prostate(2)	breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|liver(2)|lung(8)|ovary(2)|prostate(1)	26						c.(1060-1062)tAc>tTc		interleukin 1 receptor-like 2							134	108	117					2																	102842427		2203	4300	6503	SO:0001583	missense	8808				cellular defense response|innate immune response	integral to plasma membrane	interleukin-1, Type I, activating receptor activity	g.chr2:102842427A>T	U49065	CCDS2056.1	2q12	2013-01-14			ENSG00000115598	ENSG00000115598		"Interleukins and interleukin receptors", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5999	protein-coding gene	gene with protein product		604512				8898719, 10191101, 11466363	Standard	NM_003854		Approved	IL1R-rp2, IL1RRP2	uc002tbs.3	Q9HB29	OTTHUMG00000130776	ENST00000264257.2:c.1061A>T	2.37:g.102842427A>T	ENSP00000264257:p.Tyr354Phe					IL1RL2_ENST00000539491.1_Missense_Mutation_p.Y354F|IL1RL2_ENST00000441515.2_Missense_Mutation_p.Y236F|IL1RL2_ENST00000481806.1_3'UTR	p.Y354F	NM_003854.2	NP_003845.2	Q9HB29	ILRL2_HUMAN			9	1187	+			354					A4FU63|Q13525|Q45H74|Q53TU8|Q587I8	Missense_Mutation	SNP	ENST00000264257.2	37	c.1061A>T	CCDS2056.1	.	.	.	.	.	.	.	.	.	.	A	2.808	-0.247554	0.05867	.	.	ENSG00000115598	ENST00000264257;ENST00000441515;ENST00000539491	T;T;T	0.03124	4.3;4.04;4.3	5.78	-9.11	0.00711	.	1.179030	0.05698	N	0.593549	T	0.01523	0.0049	N	0.05078	-0.115	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.47560	-0.9108	10	0.12103	T	0.63	.	7.6041	0.28093	0.4248:0.0:0.121:0.4543	.	236;354	A4FU63;Q9HB29	.;ILRL2_HUMAN	F	354;236;354	ENSP00000264257:Y354F;ENSP00000413348:Y236F;ENSP00000442184:Y354F	ENSP00000264257:Y354F	Y	+	2	0	IL1RL2	102208859	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.033000	0.13754	-1.923000	0.01065	-0.408000	0.06270	TAC		0.383	IL1RL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253290.1	NM_003854		5	82	0	0	0	1	0	5	82					T	102842427	A	T	102842427	3	4	64	1	0	0	0	0	1	0	0	0	7664	391	14	5	1091	5	IL1RL2	2	102842427	Missense_Mutation	SNP	A	TCGA-EJ-5516-01A-01D-1576-08	16137084	102842427	140356946	8	3241											
LY75	4065	broad.mit.edu	37	chr2	160688257	160688257	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgctcaagaacaaagttattCtccttttcatctcgaatact	12	15	4	10	1	4	1	2	0	2	1	6	2	4	1	1	0	3	2	1	0	6	5			TCGA-EJ-5516-01A-01D-1576-08	TCGA-EJ-5516-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dbdfe2-f446-463e-847c-885759682c43	b4bf3137-c8ca-4491-bbfc-3d864e521faf	g.chr2:160688257C>T	ENST00000263636.4	-	28	3909	c.3882G>A	c.(3880-3882)gaG>gaA	p.E1294E	LY75_ENST00000554112.1_Silent_p.E1294E|LY75_ENST00000553424.1_Silent_p.E1294E|LY75-CD302_ENST00000504764.1_Silent_p.E1294E|LY75-CD302_ENST00000505052.1_Silent_p.E1294E	NM_002349.3	NP_002340.2	O60449	LY75_HUMAN	lymphocyte antigen 75	1294	C-type lectin 8. {ECO:0000255|PROSITE- ProRule:PRU00040}.				endocytosis (GO:0006897)|immune response (GO:0006955)|inflammatory response (GO:0006954)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)	p.E1294E(1)		NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(22)|prostate(7)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	59				COAD - Colon adenocarcinoma(177;0.132)		CAAAGTTATTCTCCTTTTCAT	0.294																																						ENST00000263636.4																			1	Substitution - coding silent(1)	p.E1294E(1)	prostate(1)	NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(22)|prostate(7)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	59						c.(3880-3882)gaG>gaA		lymphocyte antigen 75							110	115	113					2																	160688257		2203	4294	6497	SO:0001819	synonymous_variant	4065							g.chr2:160688257C>T	AF011333	CCDS2211.1	2q24	2011-08-30			ENSG00000054219	ENSG00000054219		"CD molecules", "C-type lectin domain containing"	6729	protein-coding gene	gene with protein product		604524				9553150	Standard	NM_002349		Approved	DEC-205, CLEC13B, CD205		O60449	OTTHUMG00000132025	ENST00000263636.4:c.3882G>A	2.37:g.160688257C>T						LY75_ENST00000554112.1_Silent_p.E1294E|LY75_ENST00000553424.1_Silent_p.E1294E|LY75-CD302_ENST00000505052.1_Silent_p.E1294E|LY75-CD302_ENST00000504764.1_Silent_p.E1294E	p.E1294E	NM_002349.3	NP_002340.2				COAD - Colon adenocarcinoma(177;0.132)	28	3909	-								O75913|Q53R46|Q53TF5|Q7Z575|Q7Z577	Silent	SNP	ENST00000263636.4	37	c.3882G>A	CCDS2211.1																																																																																				0.294	LY75-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000255035.1			6	165	0	0	0	1	0	6	165					T	160688257	C	T	160688257	2	4	64	1	0	0	0	0	0	0	0	1	9099	912	32	3		3	LY75	2	160688257	Silent	SNP	C	TCGA-EJ-5516-01A-01D-1576-08	57845830	160688257	82511116	9	3242											
LY75	4065	broad.mit.edu	37	chr2	160710869	160710869	+	Splice_Site	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aaaatatattcttttaaattAcatttgctattttgtttttg	12	23	3	3	0	1	0	0	0	1	0	1	0	1	0	0	0	2	2	0	0	8	12			TCGA-EJ-5516-01A-01D-1576-08	TCGA-EJ-5516-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dbdfe2-f446-463e-847c-885759682c43	b4bf3137-c8ca-4491-bbfc-3d864e521faf	g.chr2:160710869A>T	ENST00000263636.4	-	18	2623		c.e18+1		LY75_ENST00000554112.1_Splice_Site|LY75_ENST00000553424.1_Splice_Site|LY75-CD302_ENST00000504764.1_Splice_Site|LY75-CD302_ENST00000505052.1_Splice_Site	NM_002349.3	NP_002340.2	O60449	LY75_HUMAN	lymphocyte antigen 75						endocytosis (GO:0006897)|immune response (GO:0006955)|inflammatory response (GO:0006954)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)	p.?(1)		NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(22)|prostate(7)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	59				COAD - Colon adenocarcinoma(177;0.132)		cttttaaattaCATTTGCTAT	0.254																																						ENST00000263636.4																			1	Unknown(1)	p.?(1)	prostate(1)	NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(22)|prostate(7)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	59						c.e18+1		lymphocyte antigen 75							25	25	25					2																	160710869		2192	4298	6490	SO:0001630	splice_region_variant	4065							g.chr2:160710869A>T	AF011333	CCDS2211.1	2q24	2011-08-30			ENSG00000054219	ENSG00000054219		"CD molecules", "C-type lectin domain containing"	6729	protein-coding gene	gene with protein product		604524				9553150	Standard	NM_002349		Approved	DEC-205, CLEC13B, CD205		O60449	OTTHUMG00000132025	ENST00000263636.4:c.2595+1T>A	2.37:g.160710869A>T						LY75_ENST00000554112.1_Splice_Site|LY75_ENST00000553424.1_Splice_Site|LY75-CD302_ENST00000505052.1_Splice_Site|LY75-CD302_ENST00000504764.1_Splice_Site		NM_002349.3	NP_002340.2				COAD - Colon adenocarcinoma(177;0.132)	18	2623	-								O75913|Q53R46|Q53TF5|Q7Z575|Q7Z577	Splice_Site	SNP	ENST00000263636.4	37		CCDS2211.1																																																																																				0.254	LY75-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000255035.1		Intron	5	66	0	0	0	1	0	5	66					T	160710869	A	T	160710869	5	4	64	1	0	0	0	0	0	0	1	0	9099	405	14	5	2643	5	LY75	2	160710869	Splice_Site	SNP	A	TCGA-EJ-5516-01A-01D-1576-08	22612	160710869	82488504	10	3243											
FASTKD2	22868	broad.mit.edu	37	chr2	207638988	207638988	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	tatttgaaaaccttggctttCgacctgttggtttaatggac	9	16	9	7	1	0	1	0	1	0	0	1	3	0	2	2	3	1	3	2	3	4	7	rs118203917		TCGA-EJ-5516-01A-01D-1576-08	TCGA-EJ-5516-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dbdfe2-f446-463e-847c-885759682c43	b4bf3137-c8ca-4491-bbfc-3d864e521faf	g.chr2:207638988C>G	ENST00000236980.6	+	7	1642	c.1294C>G	c.(1294-1296)Cga>Gga	p.R432G	FASTKD2_ENST00000402774.3_Missense_Mutation_p.R432G|FASTKD2_ENST00000403094.3_Missense_Mutation_p.R432G	NM_014929.3	NP_055744.2	Q9NYY8	FAKD2_HUMAN	FAST kinase domains 2	432					cellular respiration (GO:0045333)	mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)	p.R432*(1)|p.R432G(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(2)	21				LUSC - Lung squamous cell carcinoma(261;0.0718)|Epithelial(149;0.119)|Lung(261;0.138)		CCTTGGCTTTCGACCTGTTGG	0.303																																						ENST00000236980.6																			2	Substitution - Nonsense(1)|Substitution - Missense(1)	p.R432*(1)|p.R432G(1)	large_intestine(1)|prostate(1)	breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(2)	21	GRCh37	CM085400	FASTKD2	M	rs118203917	c.(1294-1296)Cga>Gga		FAST kinase domains 2							87	86	86					2																	207638988		2202	4296	6498	SO:0001583	missense	22868				apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity	g.chr2:207638988C>G	BC001544	CCDS2371.1	2q33.3	2008-02-05	2006-07-07	2006-07-07	ENSG00000118246	ENSG00000118246			29160	protein-coding gene	gene with protein product		612322	"KIAA0971"	KIAA0971			Standard	NM_014929		Approved		uc002vbx.3	Q9NYY8	OTTHUMG00000132917	ENST00000236980.6:c.1294C>G	2.37:g.207638988C>G	ENSP00000236980:p.Arg432Gly					FASTKD2_ENST00000403094.3_Missense_Mutation_p.R432G|FASTKD2_ENST00000402774.3_Missense_Mutation_p.R432G	p.R432G	NM_014929.3	NP_055744.2	Q9NYY8	FAKD2_HUMAN		LUSC - Lung squamous cell carcinoma(261;0.0718)|Epithelial(149;0.119)|Lung(261;0.138)	7	1642	+			432					Q9NVX6|Q9Y2H7	Missense_Mutation	SNP	ENST00000236980.6	37	c.1294C>G	CCDS2371.1	.	.	.	.	.	.	.	.	.	.	C	13.11	2.139679	0.37728	.	.	ENSG00000118246	ENST00000236980;ENST00000402774;ENST00000403094	T;T;T	0.16743	2.32;2.32;2.32	5.74	4.79	0.61399	.	0.349524	0.27402	N	0.019529	T	0.34803	0.0910	M	0.66939	2.045	0.34229	D	0.676345	D;D	0.61080	0.989;0.961	P;P	0.58820	0.846;0.694	T	0.35226	-0.9797	10	0.27082	T	0.32	-18.3065	16.4943	0.84223	0.1397:0.8603:0.0:0.0	.	432;432	Q9NYY8-2;Q9NYY8	.;FAKD2_HUMAN	G	432	ENSP00000236980:R432G;ENSP00000385990:R432G;ENSP00000384929:R432G	ENSP00000236980:R432G	R	+	1	2	FASTKD2	207347233	1.000000	0.71417	0.998000	0.56505	0.075000	0.17131	3.036000	0.49767	2.703000	0.92315	0.655000	0.94253	CGA		0.303	FASTKD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256428.2	NM_014929		8	171	0	0	0	1	0	8	171					G	207638988	C	G	207638988	3	3	64	1	0	0	0	0	1	0	0	0	5686	876	31	5	1316	5	FASTKD2	2	207638988	Missense_Mutation	SNP	C	TCGA-EJ-5516-01A-01D-1576-08	46928119	207638988	35560385	11	3244											
TMEM198	130612	broad.mit.edu	37	chr2	220414063	220414063	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catcaaacgcttcaatggagAcgtcctctccccggtgagct	9	9	9	14	3	3	2	2	1	1	1	5	3	4	2	3	2	2	2	3	2	2	1			TCGA-EJ-5516-01A-01D-1576-08	TCGA-EJ-5516-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dbdfe2-f446-463e-847c-885759682c43	b4bf3137-c8ca-4491-bbfc-3d864e521faf	g.chr2:220414063A>G	ENST00000344458.2	+	5	1517	c.932A>G	c.(931-933)gAc>gGc	p.D311G	TMEM198_ENST00000373883.3_Missense_Mutation_p.D311G|MIR3132_ENST00000581997.1_RNA|RP11-256I23.1_ENST00000596829.1_RNA			Q66K66	TM198_HUMAN	transmembrane protein 198	311					multicellular organismal development (GO:0007275)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|Wnt signaling pathway (GO:0016055)	cytoplasmic membrane-bounded vesicle (GO:0016023)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.D311G(2)		NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	16		Renal(207;0.0376)		Epithelial(149;6.49e-08)|all cancers(144;6.45e-06)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802)		TTCAATGGAGACGTCCTCTCC	0.632																																						ENST00000344458.2																			2	Substitution - Missense(2)	p.D311G(2)	prostate(2)	NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	16						c.(931-933)gAc>gGc		transmembrane protein 198							36	37	37					2																	220414063		2203	4300	6503	SO:0001583	missense	130612					integral to membrane		g.chr2:220414063A>G	BC068567	CCDS33385.1	2q35	2011-12-06			ENSG00000188760	ENSG00000188760			33704	protein-coding gene	gene with protein product							Standard	NM_001005209		Approved	MGC99813, TMEM198A	uc002vmf.3	Q66K66	OTTHUMG00000059156	ENST00000344458.2:c.932A>G	2.37:g.220414063A>G	ENSP00000343507:p.Asp311Gly					TMEM198_ENST00000373883.3_Missense_Mutation_p.D311G	p.D311G			Q66K66	TM198_HUMAN		Epithelial(149;6.49e-08)|all cancers(144;6.45e-06)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802)	5	1517	+		Renal(207;0.0376)	311						Missense_Mutation	SNP	ENST00000344458.2	37	c.932A>G	CCDS33385.1	.	.	.	.	.	.	.	.	.	.	A	26.5	4.744007	0.89663	.	.	ENSG00000188760	ENST00000344458;ENST00000373883	.	.	.	5.62	4.46	0.54185	.	0.000000	0.85682	D	0.000000	T	0.67822	0.2934	L	0.49126	1.545	0.58432	D	0.999999	D	0.89917	1.0	D	0.80764	0.994	T	0.68217	-0.5467	9	0.51188	T	0.08	-23.5464	11.0287	0.47759	0.9265:0.0:0.0735:0.0	.	311	Q66K66	TM198_HUMAN	G	311	.	ENSP00000343507:D311G	D	+	2	0	TMEM198	220122307	1.000000	0.71417	0.997000	0.53966	0.988000	0.76386	7.277000	0.78572	2.275000	0.75901	0.528000	0.53228	GAC		0.632	TMEM198-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131063.1	NM_001005209		3	61	0	0	0	1	0	3	61					G	220414063	A	G	220414063	3	3	64	1	0	0	0	0	1	0	0	0	16116	275	10	4	942	4	TMEM198	2	220414063	Missense_Mutation	SNP	A	TCGA-EJ-5516-01A-01D-1576-08	12775075	220414063	22785310	12	3245											
SPHKAP	80309	broad.mit.edu	37	chr2	228882892	228882892	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgacttgaacttcgttgatgCgagatgtggcacagttgtac	9	13	12	7	2	0	4	0	3	0	1	1	5	0	4	0	1	3	4	0	1	2	5	rs137871355	byFrequency	TCGA-EJ-5516-01A-01D-1576-08	TCGA-EJ-5516-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dbdfe2-f446-463e-847c-885759682c43	b4bf3137-c8ca-4491-bbfc-3d864e521faf	g.chr2:228882892C>T	ENST00000392056.3	-	7	2724	c.2678G>A	c.(2677-2679)cGc>cAc	p.R893H	SPHKAP_ENST00000344657.5_Missense_Mutation_p.R893H	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	893						extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|Z disc (GO:0030018)	protein kinase A binding (GO:0051018)	p.R893H(2)		NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		TTCGTTGATGCGAGATGTGGC	0.507													C|||	3	0.000599042	0.0023	0	5008	,	,		20852	0		0	False		,,,				2504	0					ENST00000392056.3																			2	Substitution - Missense(2)	p.R893H(2)	prostate(2)	NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185						c.(2677-2679)cGc>cAc		SPHK1 interactor, AKAP domain containing		C	HIS/ARG,HIS/ARG	14,4392	21.2+/-45.6	0,14,2189	392	365	374		2678,2678	-1.1	0	2	dbSNP_134	374	0,8600		0,0,4300	yes	missense,missense	SPHKAP	NM_001142644.1,NM_030623.3	29,29	0,14,6489	TT,TC,CC		0.0,0.3177,0.1076	benign,benign	893/1701,893/1672	228882892	14,12992	2203	4300	6503	SO:0001583	missense	80309					cytoplasm	protein binding	g.chr2:228882892C>T		CCDS33389.1, CCDS46537.1	2q36.3	2010-08-20			ENSG00000153820	ENSG00000153820		"A-kinase anchor proteins"	30619	protein-coding gene	gene with protein product	"sphingosine kinase type 1-interacting protein"	611646				12080051, 11214970	Standard	NM_030623		Approved	SKIP	uc002vpq.2	Q2M3C7	OTTHUMG00000153584	ENST00000392056.3:c.2678G>A	2.37:g.228882892C>T	ENSP00000375909:p.Arg893His					SPHKAP_ENST00000344657.5_Missense_Mutation_p.R893H	p.R893H	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)	7	2724	-		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)	893					Q68DA3|Q68DR8|Q9C0I5	Missense_Mutation	SNP	ENST00000392056.3	37	c.2678G>A	CCDS46537.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	1.270	-0.613282	0.03690	0.003177	0.0	ENSG00000153820	ENST00000392056;ENST00000344657	T;T	0.11495	2.77;2.77	5.85	-1.11	0.09840	.	0.994479	0.08165	N	0.987860	T	0.03564	0.0102	N	0.02011	-0.69	0.09310	N	1	B;B	0.06786	0.0;0.001	B;B	0.04013	0.0;0.001	T	0.40194	-0.9576	10	0.52906	T	0.07	.	2.8865	0.05662	0.4422:0.2792:0.0631:0.2155	.	893;893	Q2M3C7;Q2M3C7-2	SPKAP_HUMAN;.	H	893	ENSP00000375909:R893H;ENSP00000339886:R893H	ENSP00000339886:R893H	R	-	2	0	SPHKAP	228591136	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.963000	0.29293	-0.359000	0.08150	-1.268000	0.01426	CGC		0.507	SPHKAP-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331750.1	NM_030623		21	985	0	0	0	1	0	21	985					T	228882892	C	T	228882892	3	4	64	1	0	0	0	0	1	0	0	0	15047	768	27	1	2448	1	SPHKAP	2	228882892	Missense_Mutation	SNP	C	TCGA-EJ-5516-01A-01D-1576-08	8468829	228882892	14316481	13	3246											
CHL1	10752	broad.mit.edu	37	chr3	403423	403423	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccaaagatggagaaaattacGctacagtggttgggtacagt	14	9	12	6	1	0	2	0	0	0	2	0	3	0	2	1	3	3	3	1	3	6	4	rs368839091		TCGA-EJ-5516-01A-01D-1576-08	TCGA-EJ-5516-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dbdfe2-f446-463e-847c-885759682c43	b4bf3137-c8ca-4491-bbfc-3d864e521faf	g.chr3:403423G>A	ENST00000256509.2	+	13	1990	c.1348G>A	c.(1348-1350)Gct>Act	p.A450T	CHL1-AS1_ENST00000608098.1_RNA|CHL1_ENST00000397491.2_Missense_Mutation_p.A434T|CHL1-AS1_ENST00000417612.1_RNA	NM_001253387.1|NM_001253388.1|NM_006614.3	NP_001240316.1|NP_001240317.1|NP_006605.2	Q96FC9	DDX11_HUMAN	cell adhesion molecule L1-like	0					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|ATP catabolic process (GO:0006200)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|sister chromatid cohesion (GO:0007062)|viral process (GO:0016032)	midbody (GO:0030496)|nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle pole (GO:0000922)	4 iron, 4 sulfur cluster binding (GO:0051539)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA-dependent ATPase activity (GO:0008094)|double-stranded DNA binding (GO:0003690)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)	p.A450T(1)		NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1)	93		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)		AGAAAATTACGCTACAGTGGT	0.398																																						ENST00000256509.2																			1	Substitution - Missense(1)	p.A450T(1)	prostate(1)	NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1)	93						c.(1348-1350)Gct>Act		cell adhesion molecule L1-like		G	THR/ALA	0,4406		0,0,2203	236	226	229		1348	4.3	0	3		229	1,8599	1.2+/-3.3	0,1,4299	no	missense	CHL1	NM_006614.2	58	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging	450/1225	403423	1,13005	2203	4300	6503	SO:0001583	missense	10752				axon guidance|cell adhesion|signal transduction	integral to membrane|plasma membrane|proteinaceous extracellular matrix		g.chr3:403423G>A	AF002246	CCDS2556.1, CCDS58812.1, CCDS74887.1	3p26	2013-05-01	2013-05-01		ENSG00000134121	ENSG00000134121		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	1939	protein-coding gene	gene with protein product	"neural cell adhesion molecule", "close homolog of L1"	607416	"cell adhesion molecule with homology to L1CAM (close homologue of L1)", "cell adhesion molecule with homology to L1CAM (close homolog of L1)"			9799093	Standard	NM_006614		Approved	CALL, L1CAM2, FLJ44930, MGC132578	uc003bot.3	O00533	OTTHUMG00000090601	ENST00000256509.2:c.1348G>A	3.37:g.403423G>A	ENSP00000256509:p.Ala450Thr					CHL1_ENST00000397491.2_Missense_Mutation_p.A434T	p.A450T	NM_001253387.1|NM_001253388.1|NM_006614.3	NP_001240316.1|NP_001240317.1|NP_006605.2	O00533	CHL1_HUMAN		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)	13	1990	+		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)	434			Ig-like C2-type 5.		Q13333|Q86VQ4|Q86W62|Q92498|Q92770|Q92998|Q92999	Missense_Mutation	SNP	ENST00000256509.2	37	c.1348G>A	CCDS2556.1	.	.	.	.	.	.	.	.	.	.	G	13.55	2.271855	0.40194	0.0	1.16E-4	ENSG00000134121	ENST00000256509;ENST00000397491	T;T	0.66280	-0.2;-0.2	5.24	4.35	0.52113	Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.124363	0.56097	D	0.000032	T	0.49372	0.1553	N	0.20445	0.575	0.27346	N	0.956385	P;B;P	0.44006	0.545;0.232;0.824	B;B;B	0.42738	0.09;0.09;0.396	T	0.42258	-0.9462	10	0.30078	T	0.28	.	14.2853	0.66243	0.0:0.1486:0.8514:0.0	.	434;434;450	B3KX75;O00533;O00533-2	.;CHL1_HUMAN;.	T	450;434	ENSP00000256509:A450T;ENSP00000380628:A434T	ENSP00000256509:A450T	A	+	1	0	CHL1	378423	0.821000	0.29204	0.014000	0.15608	0.687000	0.40016	4.043000	0.57354	1.298000	0.44778	0.563000	0.77884	GCT		0.398	CHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207155.2	NM_006614		10	348	0	0	0	1	0	10	348					A	403423	G	A	403423	3	1	64	1	0	0	0	0	1	0	0	0	3349	1087	38	1	1390	1	CHL1	3	403423	Missense_Mutation	SNP	G	TCGA-EJ-5516-01A-01D-1576-08		403423	197619007	14	3247											
CNTN6	27255	broad.mit.edu	37	chr3	1427451	1427451	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ctgggacagggccctcaagcCccccagtcaatgttaccacc	9	6	9	17	0	2	0	2	0	0	0	2	1	2	1	6	2	2	1	6	2	3	1			TCGA-EJ-5516-01A-01D-1576-08	TCGA-EJ-5516-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dbdfe2-f446-463e-847c-885759682c43	b4bf3137-c8ca-4491-bbfc-3d864e521faf	g.chr3:1427451C>T	ENST00000446702.2	+	20	3301	c.2674C>T	c.(2674-2676)Ccc>Tcc	p.P892S	CNTN6_ENST00000539053.1_Missense_Mutation_p.P820S|CNTN6_ENST00000350110.2_Missense_Mutation_p.P892S			Q9UQ52	CNTN6_HUMAN	contactin 6	892	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|central nervous system development (GO:0007417)|Notch signaling pathway (GO:0007219)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)		p.P892S(1)		breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		all_cancers(2;0.000164)|all_epithelial(2;0.107)		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)		GCCCTCAAGCCCCCCAGTCAA	0.453																																						ENST00000446702.2																			1	Substitution - Missense(1)	p.P892S(1)	prostate(1)	breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90						c.(2674-2676)Ccc>Tcc		contactin 6							143	143	143					3																	1427451		2203	4300	6503	SO:0001583	missense	27255				axon guidance|cell adhesion|central nervous system development|Notch signaling pathway	anchored to membrane|plasma membrane		g.chr3:1427451C>T	AB003592	CCDS2557.1	3p26-p25	2013-02-11			ENSG00000134115	ENSG00000134115		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	2176	protein-coding gene	gene with protein product	"neural adhesion molecule"	607220				9486763	Standard	NM_014461		Approved	NB-3	uc003bpa.3	Q9UQ52	OTTHUMG00000119030	ENST00000446702.2:c.2674C>T	3.37:g.1427451C>T	ENSP00000407822:p.Pro892Ser					CNTN6_ENST00000539053.1_Missense_Mutation_p.P820S|CNTN6_ENST00000350110.2_Missense_Mutation_p.P892S	p.P892S			Q9UQ52	CNTN6_HUMAN		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)	20	3301	+		all_cancers(2;0.000164)|all_epithelial(2;0.107)	892			Fibronectin type-III 3.		Q2KHM2	Missense_Mutation	SNP	ENST00000446702.2	37	c.2674C>T	CCDS2557.1	.	.	.	.	.	.	.	.	.	.	C	6.991	0.552883	0.13374	.	.	ENSG00000134115	ENST00000446702;ENST00000539053;ENST00000350110	T;T;T	0.53423	0.62;0.62;0.62	5.75	-0.852	0.10713	Fibronectin, type III (2);Immunoglobulin-like fold (1);	0.903647	0.09441	N	0.801792	T	0.27798	0.0684	N	0.26162	0.8	0.09310	N	1	B	0.17038	0.02	B	0.14023	0.01	T	0.23440	-1.0188	10	0.16896	T	0.51	.	4.5944	0.12322	0.4752:0.1558:0.2965:0.0725	.	892	Q9UQ52	CNTN6_HUMAN	S	892;820;892	ENSP00000407822:P892S;ENSP00000442791:P820S;ENSP00000341882:P892S	ENSP00000341882:P892S	P	+	1	0	CNTN6	1402451	0.000000	0.05858	0.234000	0.24042	0.983000	0.72400	0.112000	0.15479	-0.174000	0.10743	0.650000	0.86243	CCC		0.453	CNTN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239235.2	NM_014461		7	240	0	0	0	1	0	7	240					T	1427451	C	T	1427451	3	4	64	1	0	0	0	0	1	0	0	0	3645	623	22	3	2748	3	CNTN6	3	1427451	Missense_Mutation	SNP	C	TCGA-EJ-5516-01A-01D-1576-08	1024028	1427451	196594979	15	3248											
DAG1	1605	broad.mit.edu	37	chr3	49570280	49570280	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gatctgctaccgcaagaagcGgaagggcaagcttacccttg	11	7	12	11	2	1	1	0	0	1	1	1	3	1	2	2	2	5	4	2	2	6	3			TCGA-EJ-5516-01A-01D-1576-08	TCGA-EJ-5516-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dbdfe2-f446-463e-847c-885759682c43	b4bf3137-c8ca-4491-bbfc-3d864e521faf	g.chr3:49570280G>A	ENST00000539901.1	+	3	2894	c.2336G>A	c.(2335-2337)cGg>cAg	p.R779Q	DAG1_ENST00000538711.1_Missense_Mutation_p.R779Q|DAG1_ENST00000308775.2_Missense_Mutation_p.R779Q|DAG1_ENST00000541308.1_Missense_Mutation_p.R779Q|DAG1_ENST00000545947.1_Missense_Mutation_p.R779Q|DAG1_ENST00000515359.2_Missense_Mutation_p.R779Q	NM_001177644.2	NP_001171115	Q14118	DAG1_HUMAN	dystroglycan 1 (dystrophin-associated glycoprotein 1)	779					basement membrane organization (GO:0071711)|branching involved in salivary gland morphogenesis (GO:0060445)|calcium-dependent cell-matrix adhesion (GO:0016340)|commissural neuron axon guidance (GO:0071679)|cytoskeletal anchoring at plasma membrane (GO:0007016)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|extracellular matrix organization (GO:0030198)|membrane protein ectodomain proteolysis (GO:0006509)|microtubule anchoring (GO:0034453)|modulation by virus of host morphology or physiology (GO:0019048)|morphogenesis of an epithelial sheet (GO:0002011)|myelination in peripheral nervous system (GO:0022011)|negative regulation of cell migration (GO:0030336)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of protein kinase B signaling (GO:0051898)|nerve maturation (GO:0021682)|NLS-bearing protein import into nucleus (GO:0006607)|response to peptide hormone (GO:0043434)	basement membrane (GO:0005604)|basolateral plasma membrane (GO:0016323)|cell outer membrane (GO:0009279)|cell-cell adherens junction (GO:0005913)|contractile ring (GO:0070938)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dystroglycan complex (GO:0016011)|dystrophin-associated glycoprotein complex (GO:0016010)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|membrane raft (GO:0045121)|node of Ranvier (GO:0033268)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)	actin binding (GO:0003779)|alpha-actinin binding (GO:0051393)|calcium ion binding (GO:0005509)|laminin-1 binding (GO:0043237)|SH2 domain binding (GO:0042169)|structural constituent of muscle (GO:0008307)|tubulin binding (GO:0015631)|vinculin binding (GO:0017166)|virus receptor activity (GO:0001618)	p.R779Q(1)		NS(1)|autonomic_ganglia(2)|breast(2)|endometrium(1)|large_intestine(8)|lung(5)|ovary(2)|prostate(1)|skin(1)	23				BRCA - Breast invasive adenocarcinoma(193;5.13e-05)|Kidney(197;0.00241)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)		CGCAAGAAGCGGAAGGGCAAG	0.572																																						ENST00000545947.1																			1	Substitution - Missense(1)	p.R779Q(1)	prostate(1)	NS(1)|autonomic_ganglia(2)|breast(2)|endometrium(1)|large_intestine(8)|lung(5)|ovary(2)|prostate(1)|skin(1)	23						c.(2335-2337)cGg>cAg		dystroglycan 1 (dystrophin-associated glycoprotein 1)							61	49	53					3																	49570280		2203	4300	6503	SO:0001583	missense	1605				cytoskeletal anchoring at plasma membrane|interspecies interaction between organisms|microtubule anchoring|negative regulation of cell migration|negative regulation of MAPKKK cascade|negative regulation of protein kinase B signaling cascade	basement membrane|contractile ring|cytoplasm|cytoskeleton|dystrophin-associated glycoprotein complex|extracellular space|filopodium|integral to membrane|integral to membrane of membrane fraction|lamellipodium|nucleoplasm	actin binding|alpha-actinin binding|calcium ion binding|laminin-1 binding|receptor activity|structural constituent of muscle|tubulin binding|vinculin binding	g.chr3:49570280G>A	L19711	CCDS2799.1	3p21	2014-09-17			ENSG00000173402	ENSG00000173402			2666	protein-coding gene	gene with protein product	"alpha-dystroglycan", "dystrophin-associated glycoprotein-1", "beta-dystroglycan"	128239				7774920, 1741056	Standard	NM_001177643		Approved	A3a, 156DAG, AGRNR, DAG	uc021wyd.1	Q14118	OTTHUMG00000156869	ENST00000539901.1:c.2336G>A	3.37:g.49570280G>A	ENSP00000439334:p.Arg779Gln					DAG1_ENST00000541308.1_Missense_Mutation_p.R779Q|DAG1_ENST00000539901.1_Missense_Mutation_p.R779Q|DAG1_ENST00000308775.2_Missense_Mutation_p.R779Q|DAG1_ENST00000538711.1_Missense_Mutation_p.R779Q|DAG1_ENST00000515359.2_Missense_Mutation_p.R779Q	p.R779Q	NM_001177634.2	NP_001171105.1	Q14118	DAG1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;5.13e-05)|Kidney(197;0.00241)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)	6	3058	+			779					A8K6M7|Q969J9	Missense_Mutation	SNP	ENST00000539901.1	37	c.2336G>A	CCDS2799.1	.	.	.	.	.	.	.	.	.	.	G	25.6	4.658674	0.88154	.	.	ENSG00000173402	ENST00000515359;ENST00000308775;ENST00000545947;ENST00000541308;ENST00000539901;ENST00000538711	T;T;T;T;T;T	0.59083	0.29;0.29;0.29;0.29;0.29;0.29	5.85	5.85	0.93711	.	0.000000	0.85682	D	0.000000	T	0.78470	0.4288	M	0.81341	2.54	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.78270	-0.2269	9	.	.	.	-18.4028	18.9242	0.92538	0.0:0.0:1.0:0.0	.	779	Q14118	DAG1_HUMAN	Q	779	ENSP00000440705:R779Q;ENSP00000312435:R779Q;ENSP00000442600:R779Q;ENSP00000440590:R779Q;ENSP00000439334:R779Q;ENSP00000438421:R779Q	.	R	+	2	0	DAG1	49545284	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.869000	0.99810	2.764000	0.94973	0.650000	0.86243	CGG		0.572	DAG1-203	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346326.1			3	62	0	0	0	1	0	3	62					A	49570280	G	A	49570280	3	1	64	1	0	0	0	0	1	0	0	0	4225	1116	39	2	2342	2	DAG1	3	49570280	Missense_Mutation	SNP	G	TCGA-EJ-5516-01A-01D-1576-08	48142829	49570280	148452150	16	3249											
MUSTN1	389125	broad.mit.edu	37	chr3	52867695	52867695	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggttcttggtcaggtttcctCgggcccccttcaggtcctcg	2	13	12	14	2	3	0	2	0	1	0	7	0	5	0	4	5	0	2	4	5	0	4			TCGA-EJ-5516-01A-01D-1576-08	TCGA-EJ-5516-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dbdfe2-f446-463e-847c-885759682c43	b4bf3137-c8ca-4491-bbfc-3d864e521faf	g.chr3:52867695C>A	ENST00000446157.2	-	2	350	c.80G>T	c.(79-81)cGa>cTa	p.R27L	ITIH4_ENST00000266041.4_5'Flank|TMEM110-MUSTN1_ENST00000504329.1_Missense_Mutation_p.R317L|ITIH4_ENST00000434759.3_5'Flank|MUSTN1_ENST00000486659.1_Missense_Mutation_p.R32L|RP5-966M1.6_ENST00000513520.1_5'Flank|ITIH4_ENST00000346281.5_5'Flank|RP5-966M1.6_ENST00000468472.1_Missense_Mutation_p.R27L	NM_205853.3	NP_995325	Q8IVN3	MSTN1_HUMAN	musculoskeletal, embryonic nuclear protein 1	27						nucleus (GO:0005634)		p.R27L(1)		endometrium(1)|large_intestine(1)|lung(2)|prostate(2)|upper_aerodigestive_tract(1)	7				BRCA - Breast invasive adenocarcinoma(193;6.56e-05)|Kidney(197;0.000586)|KIRC - Kidney renal clear cell carcinoma(197;0.000755)|OV - Ovarian serous cystadenocarcinoma(275;0.0471)		CAGGTTTCCTCGGGCCCCCTT	0.577																																						ENST00000504329.1																			1	Substitution - Missense(1)	p.R27L(1)	prostate(1)								c.(949-951)cGa>cTa									120	122	122					3																	52867695		1915	4132	6047	SO:0001583	missense	0							g.chr3:52867695C>A		CCDS46846.1	3p21.31	2004-03-10				ENSG00000272573			22144	protein-coding gene	gene with protein product							Standard	NM_205853		Approved	Mustang		Q8IVN3		ENST00000446157.2:c.80G>T	3.37:g.52867695C>A	ENSP00000410910:p.Arg27Leu					MUSTN1_ENST00000486659.1_Missense_Mutation_p.R32L|MUSTN1_ENST00000446157.2_Missense_Mutation_p.R27L	p.R317L	NM_001198974.2	NP_001185903.2					9	1061	-									Missense_Mutation	SNP	ENST00000446157.2	37	c.950G>T	CCDS46846.1	.	.	.	.	.	.	.	.	.	.	C	29.6	5.017760	0.93404	.	.	ENSG00000243696;ENSG00000243696;ENSG00000248592;ENSG00000248592	ENST00000486659;ENST00000446157;ENST00000514466;ENST00000504329	.	.	.	5.21	5.21	0.72293	.	.	.	.	.	T	0.53722	0.1814	L	0.34521	1.04	0.35834	D	0.825558	P;D	0.57571	0.798;0.98	B;P	0.53861	0.319;0.736	T	0.65187	-0.6229	8	0.87932	D	0	-2.2501	12.1579	0.54087	0.0:0.9216:0.0:0.0784	.	317;27	A8MSY1;Q8IVN3	.;MSTN1_HUMAN	L	32;27;128;317	.	ENSP00000410910:R27L	R	-	2	0	TMEM110-MUSTN1;MUSTN1	52842735	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	3.389000	0.52516	2.452000	0.82932	0.455000	0.32223	CGA		0.577	MUSTN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352933.2	XM_371644		2	8	1	0	1	1	1	2	8					A	52867695	C	A	52867695	3	1	64	1	0	0	0	0	1	0	0	0	9990	884	31	5	176	5	MUSTN1	3	52867695	Missense_Mutation	SNP	C	TCGA-EJ-5516-01A-01D-1576-08	3297415	52867695	145154735	17	3250											
SPATA12	353324	broad.mit.edu	37	chr3	57108293	57108293	+	Nonstop_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cacacatacacacacatctgTaatcaataataatcctgcaa	18	9	2	12	0	2	0	1	0	1	0	3	0	3	0	1	0	2	2	1	0	6	4			TCGA-EJ-5516-01A-01D-1576-08	TCGA-EJ-5516-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dbdfe2-f446-463e-847c-885759682c43	b4bf3137-c8ca-4491-bbfc-3d864e521faf	g.chr3:57108293T>A	ENST00000334325.1	+	2	1246	c.571T>A	c.(571-573)Taa>Aaa	p.*191K	ARHGEF3_ENST00000338458.4_Intron	NM_181727.1	NP_859078.1	Q7Z6I5	SPT12_HUMAN	spermatogenesis associated 12	0										large_intestine(2)|lung(1)	3				KIRC - Kidney renal clear cell carcinoma(284;0.0111)|Kidney(284;0.0129)		CACACATCTGTAATCAATAAT	0.512																																						ENST00000334325.1																			0				large_intestine(2)|lung(1)	3						c.(571-573)Taa>Aaa		spermatogenesis associated 12							83	85	84					3																	57108293		2139	4189	6328	SO:0001578	stop_lost	353324							g.chr3:57108293T>A	AY221117	CCDS2879.1	3p21.2	2012-09-19			ENSG00000186451	ENSG00000186451			23221	protein-coding gene	gene with protein product		609869				22981541, 17251597	Standard	NM_181727		Approved		uc003dij.1	Q7Z6I5	OTTHUMG00000158862	ENST00000334325.1:c.571T>A	3.37:g.57108293T>A	ENSP00000335392:p.*191Lysext*36					ARHGEF3_ENST00000338458.4_Intron	p.*191K	NM_181727.1	NP_859078.1	Q7Z6I5	SPT12_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0111)|Kidney(284;0.0129)	2	1246	+			0					A0AVA8|B2RMW1	Nonstop_Mutation	SNP	ENST00000334325.1	37	c.571T>A	CCDS2879.1	.	.	.	.	.	.	.	.	.	.	T	0.486	-0.877797	0.02550	.	.	ENSG00000186451	ENST00000334325	.	.	.	1.67	-0.933	0.10431	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.6025	0.02677	0.2972:0.1957:0.0:0.5071	.	.	.	.	K	191	.	.	X	+	1	0	SPATA12	57083333	0.003000	0.15002	0.001000	0.08648	0.072000	0.16883	-0.131000	0.10482	-0.242000	0.09667	0.260000	0.18958	TAA		0.512	SPATA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352457.2	NM_181727		7	233	0	0	0	1	0	7	233					A	57108293	T	A	57108293	4	1	64	1	0	0	0	0	0	0	0	0	14998	1651	57	5	573	5	SPATA12	3	57108293	Nonstop_Mutation	SNP	T	TCGA-EJ-5516-01A-01D-1576-08	4240598	57108293	140914137	18	3251											
WDR52	55779	broad.mit.edu	37	chr3	113152410	113152410	+	Splice_Site	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tatacatattatctttacttAcatcttgattctgatttaga	12	20	3	6	0	3	3	0	2	3	1	3	3	3	3	0	0	3	0	0	0	7	11			TCGA-EJ-5516-01A-01D-1576-08	TCGA-EJ-5516-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dbdfe2-f446-463e-847c-885759682c43	b4bf3137-c8ca-4491-bbfc-3d864e521faf	g.chr3:113152410A>T	ENST00000295868.2	-	2	263		c.e2+1		WDR52-AS1_ENST00000498480.1_RNA|WDR52_ENST00000393845.2_Splice_Site	NM_018338.3	NP_060808.2												p.?(1)		breast(2)|central_nervous_system(3)|endometrium(3)|kidney(5)|large_intestine(7)|lung(26)|prostate(1)|urinary_tract(2)	49						ATCTTTACTTACATCTTGATT	0.299																																						ENST00000393845.2																			1	Unknown(1)	p.?(1)	prostate(1)	breast(2)|central_nervous_system(3)|endometrium(3)|kidney(5)|large_intestine(7)|lung(26)|prostate(1)|urinary_tract(2)	49						c.e2+1		WD repeat domain 52							84	84	84					3																	113152410		2202	4299	6501	SO:0001630	splice_region_variant	55779							g.chr3:113152410A>T																												ENST00000295868.2:c.100+1T>A	3.37:g.113152410A>T						WDR52_ENST00000295868.2_Splice_Site|WDR52-AS1_ENST00000498480.1_RNA		NM_001164496.1	NP_001157968.1	Q96MT7	WDR52_HUMAN			2	167	-									Splice_Site	SNP	ENST00000295868.2	37		CCDS2972.1	.	.	.	.	.	.	.	.	.	.	A	14.40	2.523849	0.44866	.	.	ENSG00000206530	ENST00000393845;ENST00000295868;ENST00000473143	.	.	.	3.72	3.72	0.42706	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.0934	0.36625	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	WDR52	114635100	0.998000	0.40836	0.984000	0.44739	0.449000	0.32228	2.111000	0.41883	1.919000	0.55581	0.528000	0.53228	.		0.299	WDR52-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000354128.3		Intron	8	206	0	0	0	1	0	8	206					T	113152410	A	T	113152410	5	4	64	1	0	0	0	0	0	0	1	0	17301	405	14	5	5613	5	WDR52	3	113152410	Splice_Site	SNP	A	TCGA-EJ-5516-01A-01D-1576-08	56044117	113152410	84870020	19	3252											
ZBTB38	253461	broad.mit.edu	37	chr3	141161343	141161343	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tttatgcgatgtcactatcaTtgtggaagataccaaattta	13	15	7	6	1	2	1	2	0	0	1	2	3	2	2	1	1	2	0	1	1	6	7			TCGA-EJ-5516-01A-01D-1576-08	TCGA-EJ-5516-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dbdfe2-f446-463e-847c-885759682c43	b4bf3137-c8ca-4491-bbfc-3d864e521faf	g.chr3:141161343T>C	ENST00000514251.1	+	4	392	c.113T>C	c.(112-114)aTt>aCt	p.I38T	ZBTB38_ENST00000321464.5_Missense_Mutation_p.I39T|ZBTB38_ENST00000441582.2_Missense_Mutation_p.I38T					zinc finger and BTB domain containing 38									p.I38T(1)		breast(3)|cervix(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	41						GTCACTATCATTGTGGAAGAT	0.428																																						ENST00000514251.1																			1	Substitution - Missense(1)	p.I38T(1)	prostate(1)	breast(3)|cervix(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	41						c.(112-114)aTt>aCt		zinc finger and BTB domain containing 38							138	129	132					3																	141161343		1864	4115	5979	SO:0001583	missense	253461				positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr3:141161343T>C	BC015444	CCDS43157.1	3q23	2014-06-13			ENSG00000177311	ENSG00000177311		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	26636	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 171"	612218				12477932	Standard	NM_001080412		Approved	FLJ35036, CIBZ, ZNF921, PPP1R171	uc003etw.3	Q8NAP3	OTTHUMG00000160128	ENST00000514251.1:c.113T>C	3.37:g.141161343T>C	ENSP00000426387:p.Ile38Thr					ZBTB38_ENST00000441582.2_Missense_Mutation_p.I38T|ZBTB38_ENST00000321464.5_Missense_Mutation_p.I39T	p.I38T			Q8NAP3	ZBT38_HUMAN			4	392	+			38			BTB.			Missense_Mutation	SNP	ENST00000514251.1	37	c.113T>C	CCDS43157.1	.	.	.	.	.	.	.	.	.	.	T	20.3	3.969983	0.74246	.	.	ENSG00000177311	ENST00000509842;ENST00000507722;ENST00000513258;ENST00000509883;ENST00000514251;ENST00000510338;ENST00000504673;ENST00000513570;ENST00000441582;ENST00000321464;ENST00000510726;ENST00000509813	T;T;T;T;T;T;T;T;T;T;T;T	0.66995	-0.24;-0.24;-0.24;-0.24;-0.24;-0.24;-0.24;-0.24;-0.24;-0.24;-0.24;-0.24	5.17	5.17	0.71159	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.148137	0.46145	D	0.000314	T	0.73606	0.3608	L	0.42686	1.345	0.46954	D	0.999267	D;D	0.56968	0.978;0.978	P;P	0.60236	0.871;0.871	T	0.76900	-0.2788	10	0.87932	D	0	-25.1023	15.3051	0.73987	0.0:0.0:0.0:1.0	.	39;38	B4DYR8;Q8NAP3	.;ZBT38_HUMAN	T	38;38;38;38;38;38;38;38;38;39;38;38	ENSP00000426931:I38T;ENSP00000421037:I38T;ENSP00000426288:I38T;ENSP00000424254:I38T;ENSP00000426387:I38T;ENSP00000425705:I38T;ENSP00000422347:I38T;ENSP00000422757:I38T;ENSP00000406955:I38T;ENSP00000372635:I39T;ENSP00000422081:I38T;ENSP00000422894:I38T	ENSP00000372635:I39T	I	+	2	0	ZBTB38	142644033	1.000000	0.71417	0.997000	0.53966	0.991000	0.79684	7.655000	0.83696	2.095000	0.63458	0.482000	0.46254	ATT		0.428	ZBTB38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359329.2			10	387	0	0	0	1	0	10	387					C	141161343	T	C	141161343	3	2	64	1	0	0	0	0	1	0	0	0	17536	1493	52	4	115	4	ZBTB38	3	141161343	Missense_Mutation	SNP	T	TCGA-EJ-5516-01A-01D-1576-08	28008933	141161343	56861087	20	3253											
SLC2A9	56606	broad.mit.edu	37	chr4	9828063	9828063	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccatcagtgacagctgagtcGattttctcttctggtgggta	7	14	11	9	1	3	2	1	2	2	0	5	3	3	2	1	2	1	2	1	2	1	4			TCGA-EJ-5516-01A-01D-1576-08	TCGA-EJ-5516-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dbdfe2-f446-463e-847c-885759682c43	b4bf3137-c8ca-4491-bbfc-3d864e521faf	g.chr4:9828063G>A	ENST00000264784.3	-	12	1634	c.1581C>T	c.(1579-1581)atC>atT	p.I527I	SLC2A9_ENST00000506583.1_Silent_p.I498I|SLC2A9_ENST00000309065.3_Silent_p.I498I	NM_020041.2	NP_064425.2	Q9NRM0	GTR9_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 9	527					glucose transport (GO:0015758)|proton transport (GO:0015992)|transmembrane transport (GO:0055085)|urate metabolic process (GO:0046415)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)	glucose transmembrane transporter activity (GO:0005355)|sugar:proton symporter activity (GO:0005351)	p.I498I(1)|p.I527I(1)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(1)	35					Losartan(DB00678)|Probenecid(DB01032)	CAGCTGAGTCGATTTTCTCTT	0.423																																						ENST00000506583.1																			2	Substitution - coding silent(2)	p.I498I(1)|p.I527I(1)	prostate(2)	NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(1)	35						c.(1492-1494)atC>atT		solute carrier family 2 (facilitated glucose transporter), member 9							188	168	175					4																	9828063		2203	4300	6503	SO:0001819	synonymous_variant	56606				glucose transport|urate metabolic process	integral to membrane|plasma membrane	sugar:hydrogen symporter activity	g.chr4:9828063G>A	AF210317	CCDS3406.1, CCDS3407.1	4p16.1	2013-05-22			ENSG00000109667	ENSG00000109667		"Solute carriers"	13446	protein-coding gene	gene with protein product	"urate voltage-driven efflux transporter 1"	606142				10860667, 17710649	Standard	NM_020041		Approved	Glut9, GLUTX, URATv1	uc003gmc.3	Q9NRM0	OTTHUMG00000044263	ENST00000264784.3:c.1581C>T	4.37:g.9828063G>A						SLC2A9_ENST00000264784.3_Silent_p.I527I|SLC2A9_ENST00000309065.3_Silent_p.I498I	p.I498I			Q9NRM0	GTR9_HUMAN			14	1711	-			527					Q0VGC4|Q4W5D1|Q8WV30|Q96P00	Silent	SNP	ENST00000264784.3	37	c.1494C>T	CCDS3407.1																																																																																				0.423	SLC2A9-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207055.1			13	306	0	0	0	1	0	13	306					A	9828063	G	A	9828063	2	1	64	1	0	0	0	0	0	0	0	1	14552	1048	37	2		2	SLC2A9	4	9828063	Silent	SNP	G	TCGA-EJ-5516-01A-01D-1576-08		9828063	181326213	21	3254											
EPHA5	2044	broad.mit.edu	37	chr4	66356112	66356112	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tacctgcttgatttgtggttAcatttacagacacatactgc	10	15	7	9	0	0	2	0	1	0	1	0	2	0	2	1	1	6	2	1	1	4	7			TCGA-EJ-5516-01A-01D-1576-08	TCGA-EJ-5516-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dbdfe2-f446-463e-847c-885759682c43	b4bf3137-c8ca-4491-bbfc-3d864e521faf	g.chr4:66356112A>T	ENST00000273854.3	-	5	1985	c.1385T>A	c.(1384-1386)gTa>gAa	p.V462E	EPHA5_ENST00000432638.2_Intron|EPHA5_ENST00000354839.4_Missense_Mutation_p.V462E|EPHA5_ENST00000511294.1_Missense_Mutation_p.V462E	NM_001281765.1|NM_004439.5	NP_001268694.1|NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5	462	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|cAMP-mediated signaling (GO:0019933)|ephrin receptor signaling pathway (GO:0048013)|hippocampus development (GO:0021766)|negative regulation of synapse assembly (GO:0051964)|neuron development (GO:0048666)|positive regulation of CREB transcription factor activity (GO:0032793)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|regulation of Rac GTPase activity (GO:0032314)	dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|GPI-linked ephrin receptor activity (GO:0005004)|transmembrane-ephrin receptor activity (GO:0005005)	p.V462E(2)		autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						ATTTGTGGTTACATTTACAGA	0.473										TSP Lung(17;0.13)																												ENST00000273854.3																			2	Substitution - Missense(2)	p.V462E(2)	prostate(2)	autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						c.(1384-1386)gTa>gAa		EPH receptor A5							80	64	70					4																	66356112		2203	4300	6503	SO:0001583	missense	2044				cAMP-mediated signaling|neuron development	dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum	ATP binding|transmembrane-ephrin receptor activity	g.chr4:66356112A>T	L36644	CCDS3513.1, CCDS3514.1, CCDS75131.1, CCDS75132.1, CCDS75133.1	4q13.1	2013-02-11	2004-10-28		ENSG00000145242	ENSG00000145242		"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3389	protein-coding gene	gene with protein product		600004	"EphA5"			9267020, 7528718	Standard	NM_004439		Approved	Hek7, TYRO4, CEK7, EHK1	uc003hcy.3	P54756	OTTHUMG00000129273	ENST00000273854.3:c.1385T>A	4.37:g.66356112A>T	ENSP00000273854:p.Val462Glu	TSP Lung(17;0.13)				EPHA5_ENST00000511294.1_Missense_Mutation_p.V462E|EPHA5_ENST00000354839.4_Missense_Mutation_p.V462E|EPHA5_ENST00000432638.2_Intron	p.V462E	NM_004439.5	NP_004430.4	P54756	EPHA5_HUMAN			5	1985	-			462					Q7Z3F2	Missense_Mutation	SNP	ENST00000273854.3	37	c.1385T>A	CCDS3513.1	.	.	.	.	.	.	.	.	.	.	A	25.0	4.589514	0.86851	.	.	ENSG00000145242	ENST00000273854;ENST00000354839;ENST00000511294	T;T;T	0.57273	0.41;0.41;0.41	6.08	6.08	0.98989	Fibronectin, type III (1);	0.000000	0.53938	D	0.000049	T	0.76463	0.3991	M	0.86740	2.835	0.58432	D	0.999998	D;D;D;D	0.89917	0.987;0.989;0.992;1.0	P;P;D;D	0.70227	0.833;0.863;0.92;0.968	T	0.80845	-0.1200	10	0.87932	D	0	.	16.6512	0.85203	1.0:0.0:0.0:0.0	.	462;462;462;462	B7ZKW7;B7ZKJ3;P54756-2;P54756	.;.;.;EPHA5_HUMAN	E	462	ENSP00000273854:V462E;ENSP00000346899:V462E;ENSP00000427638:V462E	ENSP00000273854:V462E	V	-	2	0	EPHA5	66038707	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.339000	0.96797	2.333000	0.79357	0.482000	0.46254	GTA		0.473	EPHA5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251388.2	NM_004439		6	91	0	0	0	1	0	6	91					T	66356112	A	T	66356112	3	4	64	1	0	0	0	0	1	0	0	0	5170	391	14	5	1784	5	EPHA5	4	66356112	Missense_Mutation	SNP	A	TCGA-EJ-5516-01A-01D-1576-08	56528049	66356112	124798164	22	3255											
CSN1S1	1446	broad.mit.edu	37	chr4	70798273	70798273	+	De_novo_Start_InFrame	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cttacataggctctgataacCatgaggcttctcattctcac	10	13	6	12	0	3	2	2	2	3	0	5	2	3	2	1	2	2	2	1	2	3	5			TCGA-EJ-5516-01A-01D-1576-08	TCGA-EJ-5516-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dbdfe2-f446-463e-847c-885759682c43	b4bf3137-c8ca-4491-bbfc-3d864e521faf	g.chr4:70798273C>A	ENST00000246891.4	+	0	49				CSN1S1_ENST00000444405.3_De_novo_Start_InFrame|CSN1S1_ENST00000507763.1_De_novo_Start_InFrame|CSN1S1_ENST00000507772.1_5'Flank|CSN1S1_ENST00000505782.1_5'Flank	NM_001890.1	NP_001881.1	P47710	CASA1_HUMAN	casein alpha s1							extracellular region (GO:0005576)|extracellular space (GO:0005615)	transporter activity (GO:0005215)			lung(5)|prostate(1)|upper_aerodigestive_tract(1)	7						CTCTGATAACCATGAGGCTTC	0.353																																						ENST00000246891.4																			0				lung(5)|prostate(1)|upper_aerodigestive_tract(1)	7								casein alpha s1							66	63	64					4																	70798273		1831	4082	5913			0					extracellular region	protein binding|transporter activity	g.chr4:70798273C>A	X78416	CCDS47067.1, CCDS54769.1	4q21.1	2014-02-19	2003-01-24	2003-01-31	ENSG00000126545	ENSG00000126545			2445	protein-coding gene	gene with protein product		115450	"casein, alpha"	CASA, CSN1		9050925, 7619062	Standard	NM_001890		Approved		uc003hep.1	P47710	OTTHUMG00000160843		4.37:g.70798273C>A						CSN1S1_ENST00000444405.3_De_novo_Start_InFrame|CSN1S1_ENST00000507772.1_Intron|CSN1S1_ENST00000507763.1_De_novo_Start_InFrame|CSN1S1_ENST00000505782.1_Intron		NM_001890.1	NP_001881.1	P47710	CASA1_HUMAN			0	49	+								A1A510|A1A511|E9PB60|Q4PNR5	Translation_Start_Site	SNP	ENST00000246891.4	37		CCDS47067.1																																																																																				0.353	CSN1S1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000362629.1			4	21	1	0	0.014758	1	0.0149719	4	21					A	70798273	C	A	70798273	1	1	64	1	0	1	0	0	0	0	0	0	3947	609	21	5		5	CSN1S1	4	70798273	De_novo_Start_InFrame	SNP	C	TCGA-EJ-5516-01A-01D-1576-08	4442161	70798273	120356003	23	3256											
GRIA2	2891	broad.mit.edu	37	chr4	158257612	158257612	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcaaagcccttcatgagcctCgggatatctatcatgatcaa	12	11	7	11	1	5	2	4	2	1	0	6	3	5	3	2	1	2	0	2	1	4	3			TCGA-EJ-5516-01A-01D-1576-08	TCGA-EJ-5516-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dbdfe2-f446-463e-847c-885759682c43	b4bf3137-c8ca-4491-bbfc-3d864e521faf	g.chr4:158257612C>T	ENST00000264426.9	+	11	1836	c.1557C>T	c.(1555-1557)ctC>ctT	p.L519L	GRIA2_ENST00000296526.7_Silent_p.L519L|GRIA2_ENST00000393815.2_Silent_p.L472L|GRIA2_ENST00000449365.1_Silent_p.L472L|GRIA2_ENST00000507898.1_Silent_p.L472L	NM_001083619.1	NP_001077088	P42262	GRIA2_HUMAN	glutamate receptor, ionotropic, AMPA 2	519					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)|ionotropic glutamate receptor activity (GO:0004970)	p.L519L(2)		NS(1)|breast(2)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(2)|lung(32)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	79	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0294)	Amobarbital(DB01351)|Aprobarbital(DB01352)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Methylphenobarbital(DB00849)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Primidone(DB00794)|Quinidine barbiturate(DB01346)|Secobarbital(DB00418)|Talbutal(DB00306)|Thiopental(DB00599)	TCATGAGCCTCGGGATATCTA	0.408																																						ENST00000296526.7																			2	Substitution - coding silent(2)	p.L519L(2)	prostate(2)	NS(1)|breast(2)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(2)|lung(32)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	79						c.(1555-1557)ctC>ctT		glutamate receptor, ionotropic, AMPA 2	L-Glutamic Acid(DB00142)						183	181	182					4																	158257612		2203	4300	6503	SO:0001819	synonymous_variant	2891				synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|endoplasmic reticulum membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity	g.chr4:158257612C>T		CCDS3797.1, CCDS43274.1, CCDS43275.1	4q32.1	2012-08-29			ENSG00000120251	ENSG00000120251		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4572	protein-coding gene	gene with protein product		138247		GLUR2		1311100	Standard	NM_001083619		Approved	GluA2, GLURB	uc003ipl.4	P42262	OTTHUMG00000133836	ENST00000264426.9:c.1557C>T	4.37:g.158257612C>T						GRIA2_ENST00000393815.2_Silent_p.L472L|GRIA2_ENST00000507898.1_Silent_p.L472L|GRIA2_ENST00000264426.9_Silent_p.L519L|GRIA2_ENST00000449365.1_Silent_p.L472L	p.L519L	NM_000826.3	NP_000817.2	P42262	GRIA2_HUMAN		COAD - Colon adenocarcinoma(41;0.0294)	11	1882	+	all_hematologic(180;0.24)	Renal(120;0.0458)	519					A8MT92|I6L997|Q96FP6	Silent	SNP	ENST00000264426.9	37	c.1557C>T	CCDS43274.1																																																																																				0.408	GRIA2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000258367.2			80	422	0	0	0	1	0	80	422					T	158257612	C	T	158257612	2	4	64	1	0	0	0	0	0	0	0	1	6768	871	31	2		2	GRIA2	4	158257612	Silent	SNP	C	TCGA-EJ-5516-01A-01D-1576-08	87459339	158257612	32896664	24	3257											
KIAA0776	23376	broad.mit.edu	37	chr6	96974309	96974309	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcctgggaactttctgacaCaggtattttttttcctaata	9	18	6	8	0	1	1	0	1	1	0	3	2	3	2	2	2	1	1	2	2	4	9			TCGA-EJ-5516-01A-01D-1576-08	TCGA-EJ-5516-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dbdfe2-f446-463e-847c-885759682c43	b4bf3137-c8ca-4491-bbfc-3d864e521faf	g.chr6:96974309C>G	ENST00000369278.4	+	5	529	c.463C>G	c.(463-465)Cag>Gag	p.Q155E		NM_015323.4	NP_056138.1	O94874	UFL1_HUMAN	UFM1-specific ligase 1	155	Involved in CDK5RAP3-binding.|Required for E3 UFM1-protein ligase activity.				negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein ubiquitination (GO:0031397)|osteoblast differentiation (GO:0001649)|protein ufmylation (GO:0071569)|regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032434)|response to endoplasmic reticulum stress (GO:0034976)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleus (GO:0005634)	UFM1 conjugating enzyme activity (GO:0071568)										CTTTCTGACACAGGTATTTTT	0.368																																						ENST00000369278.4																			0											c.(463-465)Cag>Gag		UFM1-specific ligase 1							109	105	106					6																	96974309		2203	4300	6503	SO:0001583	missense	23376				negative regulation of NF-kappaB transcription factor activity|negative regulation of protein ubiquitination|protein ufmylation	endoplasmic reticulum|nucleus	protein binding|UFM1 conjugating enzyme activity	g.chr6:96974309C>G	BC036379	CCDS5034.1	6q16.3	2011-08-18	2011-08-18	2011-08-18	ENSG00000014123	ENSG00000014123			23039	protein-coding gene	gene with protein product	"novel LZAP-binding protein", "Regulator of CDK5RAP3 and DDRGK1"	613372	"KIAA0776"	KIAA0776		20018847, 20164180, 20228063, 20531390	Standard	NM_015323		Approved	NLBP, Maxer, RCAD	uc003por.3	O94874	OTTHUMG00000015238	ENST00000369278.4:c.463C>G	6.37:g.96974309C>G	ENSP00000358283:p.Gln155Glu						p.Q155E	NM_015323.4	NP_056138.1	O94874	UFL1_HUMAN			5	529	+			155			Involved in CDK5RAP3-binding.|Required for E3 UFM1-protein ligase activity.		A0PJ53|B4DJ57|C0H5X5|Q8N765|Q9NTQ0	Missense_Mutation	SNP	ENST00000369278.4	37	c.463C>G	CCDS5034.1	.	.	.	.	.	.	.	.	.	.	C	4.166	0.029324	0.08054	.	.	ENSG00000014123	ENST00000369278	T	0.39229	1.09	5.67	4.74	0.60224	.	0.101773	0.64402	D	0.000003	T	0.05593	0.0147	N	0.01219	-0.95	0.44302	D	0.997172	B	0.06786	0.001	B	0.06405	0.002	T	0.33599	-0.9862	10	0.02654	T	1	-11.6071	13.6076	0.62056	0.0:0.7229:0.2771:0.0	.	155	O94874	UFL1_HUMAN	E	155	ENSP00000358283:Q155E	ENSP00000358283:Q155E	Q	+	1	0	KIAA0776	97081030	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.717000	0.54911	2.660000	0.90430	0.650000	0.86243	CAG		0.368	UFL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041557.1	NM_015323		4	150	0	0	0	1	0	4	150					G	96974309	C	G	96974309	3	3	64	1	0	0	0	0	1	0	0	0	8193	479	17	5	481	5	KIAA0776	6	96974309	Missense_Mutation	SNP	C	TCGA-EJ-5516-01A-01D-1576-08		96974309	74140758	25	3258											
SYNE1	23345	broad.mit.edu	37	chr6	152536125	152536125	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tgatttccttatcattcaagGgtaacctatatccaagctca	12	14	5	10	0	3	1	3	1	0	0	5	1	5	1	3	1	2	2	3	1	6	6			TCGA-EJ-5516-01A-01D-1576-08	TCGA-EJ-5516-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dbdfe2-f446-463e-847c-885759682c43	b4bf3137-c8ca-4491-bbfc-3d864e521faf	g.chr6:152536125G>A	ENST00000367255.5	-	122	22863	c.22262C>T	c.(22261-22263)cCc>cTc	p.P7421L	SYNE1_ENST00000341594.5_Missense_Mutation_p.P7033L|SYNE1_ENST00000423061.1_Missense_Mutation_p.P7350L|SYNE1_ENST00000448038.1_Missense_Mutation_p.P7350L|SYNE1_ENST00000265368.4_Missense_Mutation_p.P7421L|SYNE1_ENST00000356820.4_Missense_Mutation_p.P1945L	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	7421					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)	p.P7421L(3)		NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		ATCATTCAAGGGTAACCTATA	0.398										HNSCC(10;0.0054)																												ENST00000367255.5																			3	Substitution - Missense(3)	p.P7421L(3)	prostate(3)	NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524						c.(22261-22263)cCc>cTc		spectrin repeat containing, nuclear envelope 1							160	152	155					6																	152536125		2203	4300	6503	SO:0001583	missense	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152536125G>A	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"myocyte nuclear envelope protein 1", "nuclear envelope spectrin repeat-1"	608441	"chromosome 6 open reading frame 98"	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.22262C>T	6.37:g.152536125G>A	ENSP00000356224:p.Pro7421Leu	HNSCC(10;0.0054)				SYNE1_ENST00000423061.1_Missense_Mutation_p.P7350L|SYNE1_ENST00000341594.5_Missense_Mutation_p.P7033L|SYNE1_ENST00000356820.4_Missense_Mutation_p.P1945L|SYNE1_ENST00000265368.4_Missense_Mutation_p.P7421L|SYNE1_ENST00000448038.1_Missense_Mutation_p.P7350L	p.P7421L	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	122	22863	-		Ovarian(120;0.0955)	7421					E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	c.22262C>T	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	G	32	5.106428	0.94292	.	.	ENSG00000131018	ENST00000367255;ENST00000367257;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000356820;ENST00000367251	T;T;T;T;T;T;T;T	0.58060	0.45;1.4;0.44;0.36;0.44;0.6;2.5;1.54	5.97	5.97	0.96955	.	0.000000	0.64402	D	0.000010	T	0.69646	0.3134	M	0.79258	2.445	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	T	0.63844	-0.6545	10	0.32370	T	0.25	.	20.4238	0.99064	0.0:0.0:1.0:0.0	.	7421;7421;7350;7350	Q8NF91;E7EQI5;Q8NF91-4;E9PEL9	SYNE1_HUMAN;.;.;.	L	7421;67;7350;7421;7350;7033;1945;343	ENSP00000356224:P7421L;ENSP00000356226:P67L;ENSP00000396024:P7350L;ENSP00000265368:P7421L;ENSP00000390975:P7350L;ENSP00000341887:P7033L;ENSP00000349276:P1945L;ENSP00000356220:P343L	ENSP00000265368:P7421L	P	-	2	0	SYNE1	152577818	1.000000	0.71417	0.787000	0.31911	0.924000	0.55760	9.802000	0.99131	2.834000	0.97654	0.650000	0.86243	CCC		0.398	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		13	269	0	0	0	1	0	13	269					A	152536125	G	A	152536125	3	1	64	1	0	0	0	0	1	0	0	0	15442	1232	43	3	4304	3	SYNE1	6	152536125	Missense_Mutation	SNP	G	TCGA-EJ-5516-01A-01D-1576-08	55561816	152536125	18578942	26	3259											
ATP6V0A4	50617	broad.mit.edu	37	chr7	138437474	138437474	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtcgatgttgcacatgttcaGgatgtggtagacagctttca	9	13	12	7	1	2	1	2	0	0	1	3	3	2	2	0	2	2	5	0	2	1	4			TCGA-EJ-5516-01A-01D-1576-08	TCGA-EJ-5516-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dbdfe2-f446-463e-847c-885759682c43	b4bf3137-c8ca-4491-bbfc-3d864e521faf	g.chr7:138437474G>A	ENST00000310018.2	-	11	1207	c.925C>T	c.(925-927)Ctg>Ttg	p.L309L	ATP6V0A4_ENST00000353492.4_Silent_p.L309L|ATP6V0A4_ENST00000393054.1_Silent_p.L309L	NM_020632.2|NM_130840.2	NP_065683.2|NP_570855.2	Q9HBG4	VPP4_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit a4	309					ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|excretion (GO:0007588)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|ossification (GO:0001503)|phagosome maturation (GO:0090382)|proton transport (GO:0015992)|regulation of pH (GO:0006885)|sensory perception of sound (GO:0007605)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)|vacuolar proton-transporting V-type ATPase, V0 domain (GO:0000220)	ATPase binding (GO:0051117)|hydrogen ion transmembrane transporter activity (GO:0015078)	p.L309L(1)		NS(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						CACATGTTCAGGATGTGGTAG	0.572																																						ENST00000310018.2																			1	Substitution - coding silent(1)	p.L309L(1)	prostate(1)	NS(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						c.(925-927)Ctg>Ttg		ATPase, H+ transporting, lysosomal V0 subunit a4							128	102	111					7																	138437474		2203	4300	6503	SO:0001819	synonymous_variant	50617				cellular iron ion homeostasis|excretion|insulin receptor signaling pathway|ossification|regulation of pH|sensory perception of sound|transferrin transport	apical plasma membrane|brush border membrane|endosome membrane|integral to membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	ATPase binding|hydrogen ion transmembrane transporter activity	g.chr7:138437474G>A	AF245517	CCDS5849.1	7q34	2011-06-09	2006-01-20	2002-05-10	ENSG00000105929	ENSG00000105929		"ATPases / V-type"	866	protein-coding gene	gene with protein product		605239	"ATPase, H+ transporting, lysosomal (vacuolar proton pump) non-catalytic accessory protein 1B", "ATPase, H+ transporting, lysosomal V0 subunit a isoform 4", "ATPase, H+ transporting, lysosomal V0 subunit A4"	ATP6N1B, ATP6N2, RTA1C		10577919, 10973252	Standard	XM_005250393		Approved	RDRTA2, VPP2, RTADR, a4, Vph1, Stv1	uc003vuf.3	Q9HBG4	OTTHUMG00000157122	ENST00000310018.2:c.925C>T	7.37:g.138437474G>A						ATP6V0A4_ENST00000353492.4_Silent_p.L309L|ATP6V0A4_ENST00000393054.1_Silent_p.L309L	p.L309L	NM_020632.2|NM_130840.2	NP_065683.2|NP_570855.2	Q9HBG4	VPP4_HUMAN			11	1207	-			309					A4D1R4|A8KA80|Q32M47	Silent	SNP	ENST00000310018.2	37	c.925C>T	CCDS5849.1																																																																																				0.572	ATP6V0A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347514.1	NM_020632		4	137	0	0	0	1	0	4	137					A	138437474	G	A	138437474	2	1	64	1	0	0	0	0	0	0	0	1	1170	991	35	3		3	ATP6V0A4	7	138437474	Silent	SNP	G	TCGA-EJ-5516-01A-01D-1576-08		138437474	20701189	27	3260											
KCNK9	51305	broad.mit.edu	37	chr8	140630697	140630697	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agttctgcggtgccaccgagCggccgccatagtcctgcgag	6	7	14	14	5	1	0	0	0	1	0	2	2	2	0	5	2	4	1	5	2	1	2			TCGA-EJ-5516-01A-01D-1576-08	TCGA-EJ-5516-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dbdfe2-f446-463e-847c-885759682c43	b4bf3137-c8ca-4491-bbfc-3d864e521faf	g.chr8:140630697C>T	ENST00000520439.1	-	2	992	c.929G>A	c.(928-930)cGc>cAc	p.R310H	KCNK9_ENST00000303015.1_Missense_Mutation_p.R310H|KCNK9_ENST00000523477.1_5'Flank	NM_001282534.1	NP_001269463.1	Q9NPC2	KCNK9_HUMAN	potassium channel, subfamily K, member 9	310					cochlea development (GO:0090102)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	potassium channel activity (GO:0005267)|voltage-gated ion channel activity (GO:0005244)	p.R310H(1)		NS(1)|endometrium(9)|kidney(1)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)	43	all_cancers(97;3.94e-14)|all_epithelial(106;4.81e-13)|Lung NSC(106;8.18e-05)|all_lung(105;0.00015)|Ovarian(258;0.00235)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;0.134)	BRCA - Breast invasive adenocarcinoma(115;0.0855)		Doxapram(DB00561)|Halothane(DB01159)	TGCCACCGAGCGGCCGCCATA	0.622																																						ENST00000520439.1																			1	Substitution - Missense(1)	p.R310H(1)	prostate(1)	NS(1)|endometrium(9)|kidney(1)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)	43						c.(928-930)cGc>cAc		potassium channel, subfamily K, member 9							51	55	53					8																	140630697		2203	4300	6503	SO:0001583	missense	51305					integral to membrane|membrane fraction	potassium channel activity|voltage-gated ion channel activity	g.chr8:140630697C>T	AF212829	CCDS6377.1	8q24.3	2012-03-07			ENSG00000169427	ENSG00000169427		"Potassium channels", "Voltage-gated ion channels / Potassium channels, Two-P"	6283	protein-coding gene	gene with protein product		605874				10734076, 16382106	Standard	NM_001282534		Approved	K2p9.1, TASK3, TASK-3	uc003yvf.1	Q9NPC2	OTTHUMG00000164186	ENST00000520439.1:c.929G>A	8.37:g.140630697C>T	ENSP00000430676:p.Arg310His					KCNK9_ENST00000303015.1_Missense_Mutation_p.R310H	p.R310H			Q9NPC2	KCNK9_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0855)		2	992	-	all_cancers(97;3.94e-14)|all_epithelial(106;4.81e-13)|Lung NSC(106;8.18e-05)|all_lung(105;0.00015)|Ovarian(258;0.00235)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;0.134)	310					Q2M290|Q540F2	Missense_Mutation	SNP	ENST00000520439.1	37	c.929G>A	CCDS6377.1	.	.	.	.	.	.	.	.	.	.	C	1.003	-0.690179	0.03303	.	.	ENSG00000169427	ENST00000522317;ENST00000303015;ENST00000520439	T;T;T	0.15718	2.4;2.4;2.4	4.85	3.93	0.45458	.	0.814960	0.11283	N	0.580098	T	0.13586	0.0329	L	0.51422	1.61	0.23501	N	0.997547	P	0.51653	0.947	B	0.32805	0.153	T	0.14868	-1.0457	10	0.48119	T	0.1	.	9.639	0.39828	0.0:0.8958:0.0:0.1042	.	310	Q9NPC2	KCNK9_HUMAN	H	310	ENSP00000429847:R310H;ENSP00000302166:R310H;ENSP00000430676:R310H	ENSP00000302166:R310H	R	-	2	0	KCNK9	140699879	0.969000	0.33509	0.017000	0.16124	0.002000	0.02628	2.621000	0.46418	0.936000	0.37367	-0.345000	0.07892	CGC		0.622	KCNK9-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378473.1	NM_016601		7	50	0	0	0	1	0	7	50					T	140630697	C	T	140630697	3	4	64	1	0	0	0	0	1	0	0	0	8072	768	27	1	199	1	KCNK9	8	140630697	Missense_Mutation	SNP	C	TCGA-EJ-5516-01A-01D-1576-08		140630697	5733325	28	3261											
EXOSC4	54512	broad.mit.edu	37	chr8	145135356	145135356	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gccagcctcaggacagattgCgctgcttgagatggatgccc	8	8	13	12	1	1	2	1	1	0	2	1	5	1	4	3	2	4	2	3	2	0	2	rs376508817		TCGA-EJ-5516-01A-01D-1576-08	TCGA-EJ-5516-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dbdfe2-f446-463e-847c-885759682c43	b4bf3137-c8ca-4491-bbfc-3d864e521faf	g.chr8:145135356C>A	ENST00000316052.5	+	3	693	c.590C>A	c.(589-591)gCg>gAg	p.A197E	CTD-3065J16.9_ENST00000524499.1_RNA|EXOSC4_ENST00000525936.1_Nonsense_Mutation_p.C154*|GPAA1_ENST00000361036.6_5'Flank|GPAA1_ENST00000355091.4_5'Flank	NM_019037.2	NP_061910.1	Q9NPD3	EXOS4_HUMAN	exosome component 4	197					defense response to virus (GO:0051607)|DNA deamination (GO:0045006)|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|histone mRNA catabolic process (GO:0071044)|maturation of 5.8S rRNA (GO:0000460)|mRNA metabolic process (GO:0016071)|nuclear mRNA surveillance (GO:0071028)|nuclear-transcribed mRNA catabolic process (GO:0000956)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|positive regulation of cell growth (GO:0030307)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|exosome (RNase complex) (GO:0000178)|nucleolus (GO:0005730)|nucleus (GO:0005634)|transcriptionally active chromatin (GO:0035327)	3'-5'-exoribonuclease activity (GO:0000175)|AU-rich element binding (GO:0017091)	p.A197E(1)		lung(4)|prostate(1)|upper_aerodigestive_tract(2)	7	all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;3.48e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GGACAGATTGCGCTGCTTGAG	0.662																																						ENST00000525936.1																			1	Substitution - Missense(1)	p.A197E(1)	prostate(1)	lung(4)|prostate(1)|upper_aerodigestive_tract(2)	7						c.(460-462)tgC>tgA		exosome component 4							63	68	67					8																	145135356		2203	4299	6502	SO:0001583	missense	54512				DNA deamination|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|histone mRNA catabolic process|maturation of 5.8S rRNA|nuclear mRNA surveillance|positive regulation of cell growth	cytosol|exosome (RNase complex)|nucleolus|transcriptionally active chromatin	3'-5'-exoribonuclease activity|AU-rich element binding|protein binding	g.chr8:145135356C>A	AF281133	CCDS6414.1	8q24.3	2004-03-26			ENSG00000178896	ENSG00000178896			18189	protein-coding gene	gene with protein product	"exosome component Rrp41"	606491				11110791	Standard	NM_019037		Approved	hRrp41p, FLJ20591, Rrp41p, RRP41, RRP41A, Ski6p, SKI6, p12A	uc003zau.3	Q9NPD3	OTTHUMG00000165437	ENST00000316052.5:c.590C>A	8.37:g.145135356C>A	ENSP00000315476:p.Ala197Glu					EXOSC4_ENST00000316052.5_Missense_Mutation_p.A197E	p.C154*			Q9NPD3	EXOS4_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;3.48e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		3	543	+	all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		0						Nonsense_Mutation	SNP	ENST00000316052.5	37	c.462C>A	CCDS6414.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	25.2|25.2	4.616095|4.616095	0.87359|0.87359	.|.	.|.	ENSG00000178896|ENSG00000178896	ENST00000316052;ENST00000527954|ENST00000525936	T;T|.	0.45276|.	0.9;0.9|.	5.38|5.38	5.38|5.38	0.77491|0.77491	Exoribonuclease, phosphorolytic domain 2 (2);|.	0.056355|.	0.64402|.	D|.	0.000001|.	T|.	0.77418|.	0.4127|.	M|M	0.77313|0.77313	2.365|2.365	0.42134|0.42134	D|D	0.991483|0.991483	P|.	0.51351|.	0.944|.	P|.	0.56127|.	0.792|.	T|.	0.80795|.	-0.1223|.	10|.	0.72032|0.87932	D|D	0.01|0	-22.1396|-22.1396	16.6096|16.6096	0.84879|0.84879	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	197|.	Q9NPD3|.	EXOS4_HUMAN|.	E|X	197;220|154	ENSP00000315476:A197E;ENSP00000436539:A220E|.	ENSP00000315476:A197E|ENSP00000432661:C154X	A|C	+|+	2|3	0|2	EXOSC4|EXOSC4	145207344|145207344	1.000000|1.000000	0.71417|0.71417	0.948000|0.948000	0.38648|0.38648	0.905000|0.905000	0.53344|0.53344	7.115000|7.115000	0.77110|0.77110	2.531000|2.531000	0.85337|0.85337	0.561000|0.561000	0.74099|0.74099	GCG|TGC		0.662	EXOSC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384065.1	NM_019037		20	106	1	0	4.35082e-09	1	4.54563e-09	20	106					A	145135356	C	A	145135356	3	1	64	1	0	0	0	0	1	0	0	0	5317	768	27	5	600	5	EXOSC4	8	145135356	Missense_Mutation	SNP	C	TCGA-EJ-5516-01A-01D-1576-08	4504659	145135356	1228666	29	3262											
MLLT10	8028	broad.mit.edu	37	chr10	21962615	21962615	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tggcatagaagaagaaactgTaaaggaaaagaaaaggaaag	23	4	12	2	0	0	4	0	0	0	4	0	6	0	6	0	3	1	2	0	3	11	2			TCGA-EJ-5516-01A-01D-1576-08	TCGA-EJ-5516-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dbdfe2-f446-463e-847c-885759682c43	b4bf3137-c8ca-4491-bbfc-3d864e521faf	g.chr10:21962615T>A	ENST00000307729.7	+	11	1566	c.1388T>A	c.(1387-1389)gTa>gAa	p.V463E	MLLT10_ENST00000377059.3_Missense_Mutation_p.V463E|MLLT10_ENST00000446906.2_Missense_Mutation_p.V463E|MLLT10_ENST00000377072.3_Missense_Mutation_p.V463E			P55197	AF10_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 10	463	DNA-binding.				positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.V463E(2)		NS(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6						GAAGAAACTGTAAAGGAAAAG	0.398			T	"MLL, PICALM, CDK6"	AL																																	ENST00000377072.3				Dom	yes		10	10p12	8028	T	"myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 10 (AF10)"			L	"MLL, PICALM, CDK6"		AL		2	Substitution - Missense(2)	p.V463E(2)	prostate(2)	NS(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6						c.(1387-1389)gTa>gAa		myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 10							102	112	108					10																	21962615		2203	4300	6503	SO:0001583	missense	8028				positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr10:21962615T>A	U13948	CCDS7135.1, CCDS55706.1, CCDS55707.1, CCDS55708.1	10p12	2013-01-28	2001-11-28		ENSG00000078403	ENSG00000078403		"Zinc fingers, PHD-type"	16063	protein-coding gene	gene with protein product		602409	"myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 10"			7888665	Standard	NM_004641		Approved	AF10	uc021pny.1	P55197	OTTHUMG00000017799	ENST00000307729.7:c.1388T>A	10.37:g.21962615T>A	ENSP00000307411:p.Val463Glu					MLLT10_ENST00000307729.7_Missense_Mutation_p.V463E|MLLT10_ENST00000377059.3_Missense_Mutation_p.V463E|MLLT10_ENST00000446906.2_Missense_Mutation_p.V463E	p.V463E	NM_004641.3	NP_004632.1	P55197	AF10_HUMAN			11	1736	+			463			DNA-binding.		B1ANA8|Q5JT37|Q5VX90|Q66K63	Missense_Mutation	SNP	ENST00000307729.7	37	c.1388T>A	CCDS55708.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	21.5|21.5	4.158125|4.158125	0.78114|0.78114	.|.	.|.	ENSG00000078403|ENSG00000078403	ENST00000377072;ENST00000446906;ENST00000307729;ENST00000396529;ENST00000377059;ENST00000438473;ENST00000538639|ENST00000420525	T;T;T;T|.	0.17213|.	2.29;2.3;2.29;2.3|.	5.36|5.36	5.36|5.36	0.76844|0.76844	.|.	0.124593|.	0.53938|.	D|.	0.000047|.	T|.	0.63977|.	0.2557|.	L|L	0.50333|0.50333	1.59|1.59	0.80722|0.80722	D|D	1|1	D;D;P;D|.	0.62365|.	0.978;0.988;0.91;0.991|.	P;P;P;P|.	0.57620|.	0.732;0.771;0.502;0.824|.	T|.	0.61850|.	-0.6978|.	10|.	0.56958|.	D|.	0.05|.	.|.	15.3441|15.3441	0.74320|0.74320	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	309;463;463;463|.	F5H541;E9PBP4;Q5VX90;P55197|.	.;.;.;AF10_HUMAN|.	E|K	463;463;463;309;463;106;105|37	ENSP00000366272:V463E;ENSP00000401406:V463E;ENSP00000307411:V463E;ENSP00000366258:V463E|.	ENSP00000307411:V463E|.	V|X	+|+	2|1	0|0	MLLT10|MLLT10	22002621|22002621	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	6.181000|6.181000	0.71988|0.71988	2.046000|2.046000	0.60703|0.60703	0.477000|0.477000	0.44152|0.44152	GTA|TAA		0.398	MLLT10-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047136.1			14	325	0	0	0	1	0	14	325					A	21962615	T	A	21962615	3	1	64	1	0	0	0	0	1	0	0	0	9626	1638	57	5	1426	5	MLLT10	10	21962615	Missense_Mutation	SNP	T	TCGA-EJ-5516-01A-01D-1576-08		21962615	113572132	30	3263											
BTBD10	84280	broad.mit.edu	37	chr11	13424827	13424827	+	Splice_Site	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aattttgtgctataaataacTagaaacaaaaagaaaaatat	23	11	4	3	0	0	2	0	0	0	2	0	2	0	2	0	0	3	1	0	0	12	7			TCGA-EJ-5516-01A-01D-1576-08	TCGA-EJ-5516-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dbdfe2-f446-463e-847c-885759682c43	b4bf3137-c8ca-4491-bbfc-3d864e521faf	g.chr11:13424827T>A	ENST00000278174.5	-	8	1252		c.e8-2		BTBD10_ENST00000530907.1_Splice_Site|BTBD10_ENST00000528120.1_Splice_Site	NM_032320.5	NP_115696.2	Q9BSF8	BTBDA_HUMAN	BTB (POZ) domain containing 10							nucleus (GO:0005634)		p.?(1)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(7)|prostate(1)	20				Epithelial(150;0.0214)		TATAAATAACTAGAAACAAAA	0.294																																						ENST00000278174.5																			1	Unknown(1)	p.?(1)	prostate(1)	cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(7)|prostate(1)	20						c.e8-2		BTB (POZ) domain containing 10							34	38	37					11																	13424827		2128	4227	6355	SO:0001630	splice_region_variant	84280					nucleus		g.chr11:13424827T>A	AY221959	CCDS7811.1, CCDS73261.1	11p15.2	2013-01-24			ENSG00000148925	ENSG00000148925		"BTB/POZ domain containing"	21445	protein-coding gene	gene with protein product		615933				15556295	Standard	XM_005253164		Approved	GMRP1, GMRP-1, MGC13007	uc001mkz.3	Q9BSF8	OTTHUMG00000165787	ENST00000278174.5:c.1007-2A>T	11.37:g.13424827T>A						BTBD10_ENST00000530907.1_Splice_Site|BTBD10_ENST00000528120.1_Splice_Site		NM_032320.5	NP_115696.2	Q9BSF8	BTBDA_HUMAN		Epithelial(150;0.0214)	8	1252	-								B7Z228|Q86WG1	Splice_Site	SNP	ENST00000278174.5	37		CCDS7811.1	.	.	.	.	.	.	.	.	.	.	T	17.93	3.508717	0.64410	.	.	ENSG00000148925	ENST00000278174;ENST00000530907;ENST00000528120	.	.	.	5.6	5.6	0.85130	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.4506	0.75271	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	BTBD10	13381403	1.000000	0.71417	0.998000	0.56505	0.838000	0.47535	7.951000	0.87819	2.123000	0.65237	0.528000	0.53228	.		0.294	BTBD10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386200.1	NM_032320	Intron	8	192	0	0	0	1	0	8	192					A	13424827	T	A	13424827	5	1	64	1	0	0	0	0	0	0	1	0	1538	1536	53	5	430	5	BTBD10	11	13424827	Splice_Site	SNP	T	TCGA-EJ-5516-01A-01D-1576-08		13424827	121581689	31	3264											
MRGPRX4	117196	broad.mit.edu	37	chr11	18195494	18195494	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tcttcctcctctgcggcctgCccttcggcattctgggggcc	1	12	11	17	2	3	0	0	0	3	0	6	0	5	0	5	4	2	1	5	4	0	3			TCGA-EJ-5516-01A-01D-1576-08	TCGA-EJ-5516-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dbdfe2-f446-463e-847c-885759682c43	b4bf3137-c8ca-4491-bbfc-3d864e521faf	g.chr11:18195494C>T	ENST00000314254.3	+	1	1111	c.691C>T	c.(691-693)Ccc>Tcc	p.P231S	RP11-113D6.6_ENST00000527671.1_Intron	NM_054032.3	NP_473373.2	Q96LA9	MRGX4_HUMAN	MAS-related GPR, member X4	231						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.P231S(1)		central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32						CTGCGGCCTGCCCTTCGGCAT	0.532																																						ENST00000314254.3																			1	Substitution - Missense(1)	p.P231S(1)	prostate(1)	central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32						c.(691-693)Ccc>Tcc		MAS-related GPR, member X4							96	90	92					11																	18195494		2199	4293	6492	SO:0001583	missense	117196					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr11:18195494C>T	AY042216	CCDS7831.1	11p15.1	2013-10-10			ENSG00000179817	ENSG00000179817		"GPCR / Class A : Orphans"	17617	protein-coding gene	gene with protein product		607230				11551509	Standard	NM_054032		Approved	MRGX4	uc001mnv.1	Q96LA9	OTTHUMG00000166442	ENST00000314254.3:c.691C>T	11.37:g.18195494C>T	ENSP00000314042:p.Pro231Ser					RP11-113D6.6_ENST00000527671.1_Intron	p.P231S	NM_054032.3	NP_473373.2	Q96LA9	MRGX4_HUMAN			1	1111	+			231					Q3KNU3|Q3KNU4|Q502W0|Q8TDD6|Q8TDD7	Missense_Mutation	SNP	ENST00000314254.3	37	c.691C>T	CCDS7831.1	.	.	.	.	.	.	.	.	.	.	C	18.10	3.549621	0.65311	.	.	ENSG00000179817	ENST00000314254	T	0.80304	-1.36	2.85	2.85	0.33270	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000013	D	0.90878	0.7134	M	0.93241	3.395	0.32011	N	0.602113	D	0.89917	1.0	D	0.80764	0.994	D	0.91676	0.5354	10	0.87932	D	0	.	11.4502	0.50147	0.0:1.0:0.0:0.0	.	231	Q96LA9	MRGX4_HUMAN	S	231	ENSP00000314042:P231S	ENSP00000314042:P231S	P	+	1	0	MRGPRX4	18152070	0.813000	0.29090	0.291000	0.24904	0.029000	0.11900	3.856000	0.55964	1.616000	0.50265	0.430000	0.28490	CCC		0.532	MRGPRX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389788.1	NM_054032		21	99	0	0	0	1	0	21	99					T	18195494	C	T	18195494	3	4	64	1	0	0	0	0	1	0	0	0	9769	739	26	3	693	3	MRGPRX4	11	18195494	Missense_Mutation	SNP	C	TCGA-EJ-5516-01A-01D-1576-08	4770667	18195494	116811022	32	3265											
UEVLD	55293	broad.mit.edu	37	chr11	18579845	18579845	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gctcctttagtcccttctgaGaggtctaagaggacaagcct	9	11	10	11	0	2	2	0	1	2	2	4	4	4	3	3	2	1	1	3	2	3	4			TCGA-EJ-5516-01A-01D-1576-08	TCGA-EJ-5516-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dbdfe2-f446-463e-847c-885759682c43	b4bf3137-c8ca-4491-bbfc-3d864e521faf	g.chr11:18579845G>C	ENST00000541984.1	-	5	407	c.345C>G	c.(343-345)ctC>ctG	p.L115L	UEVLD_ENST00000535484.1_Silent_p.L177L|UEVLD_ENST00000543987.1_Silent_p.L215L|UEVLD_ENST00000540666.1_5'UTR|UEVLD_ENST00000320750.6_Silent_p.L193L|UEVLD_ENST00000396197.3_Silent_p.L215L|UEVLD_ENST00000379387.4_Silent_p.L193L	NM_001261386.1	NP_001248315.1			UEV and lactate/malate dehyrogenase domains									p.L215L(2)		endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8						TCCCTTCTGAGAGGTCTAAGA	0.413																																						ENST00000396197.3																			2	Substitution - coding silent(2)	p.L215L(2)	prostate(2)	endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8						c.(643-645)ctC>ctG		UEV and lactate/malate dehyrogenase domains							108	90	96					11																	18579845		2199	4293	6492	SO:0001819	synonymous_variant	55293				cellular carbohydrate metabolic process|protein modification process|protein transport		binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor	g.chr11:18579845G>C	AF503350	CCDS7843.1, CCDS41624.1, CCDS58122.1, CCDS58123.1, CCDS58124.1, CCDS58125.1, CCDS73266.1	11p15.1	2006-07-14			ENSG00000151116	ENSG00000151116			30866	protein-coding gene	gene with protein product		610985				12427560	Standard	NM_001040697		Approved	Attp, UEV3	uc001mot.4	Q8IX04	OTTHUMG00000167729	ENST00000541984.1:c.345C>G	11.37:g.18579845G>C						UEVLD_ENST00000320750.6_Silent_p.L193L|UEVLD_ENST00000543987.1_Silent_p.L215L|UEVLD_ENST00000541984.1_Silent_p.L115L|UEVLD_ENST00000540666.1_5'UTR|UEVLD_ENST00000535484.1_Silent_p.L177L|UEVLD_ENST00000379387.4_Silent_p.L193L	p.L215L	NM_001040697.2|NM_001261384.1	NP_001035787.1|NP_001248313.1	Q8IX04	UEVLD_HUMAN			7	673	-			215						Silent	SNP	ENST00000541984.1	37	c.645C>G	CCDS58125.1																																																																																				0.413	UEVLD-015	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000395928.1	NM_018314		7	106	0	0	0	1	0	7	106					C	18579845	G	C	18579845	2	2	64	1	0	0	0	0	0	0	0	1	16930	929	33	5		5	UEVLD	11	18579845	Silent	SNP	G	TCGA-EJ-5516-01A-01D-1576-08	384351	18579845	116426671	33	3266											
FOLH1	2346	broad.mit.edu	37	chr11	49186293	49186293	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgtaccaagctgtacatcagCggtgtacaatcaactctcag	12	10	8	11	1	3	0	3	0	1	0	4	0	3	0	1	1	6	4	1	1	6	3	rs370741711		TCGA-EJ-5516-01A-01D-1576-08	TCGA-EJ-5516-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dbdfe2-f446-463e-847c-885759682c43	b4bf3137-c8ca-4491-bbfc-3d864e521faf	g.chr11:49186293C>T	ENST00000256999.2	-	13	1664	c.1404G>A	c.(1402-1404)ccG>ccA	p.P468P	FOLH1_ENST00000533034.1_Silent_p.P453P|FOLH1_ENST00000340334.7_Silent_p.P453P|FOLH1_ENST00000356696.3_Silent_p.P468P|FOLH1_ENST00000343844.4_Silent_p.P160P|FOLH1_ENST00000525629.1_5'UTR	NM_004476.1	NP_004467.1	Q04609	FOLH1_HUMAN	folate hydrolase (prostate-specific membrane antigen) 1	468	NAALADase.				folic acid-containing compound metabolic process (GO:0006760)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	carboxypeptidase activity (GO:0004180)|dipeptidase activity (GO:0016805)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|peptidase activity (GO:0008233)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(34)|ovary(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	60					Capromab(DB00089)	TGTACATCAGCGGTGTACAAT	0.284																																						ENST00000340334.7																			0				NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(34)|ovary(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	60						c.(1357-1359)ccG>ccA		folate hydrolase (prostate-specific membrane antigen) 1	Capromab(DB00089)|L-Glutamic Acid(DB00142)						41	42	42					11																	49186293		2197	4295	6492	SO:0001819	synonymous_variant	2346				proteolysis	cytoplasm|integral to plasma membrane|membrane fraction|nucleus	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity	g.chr11:49186293C>T	M99487	CCDS7946.1, CCDS31493.1, CCDS53626.1, CCDS53627.1, CCDS53628.1	11p11.2	2011-07-22			ENSG00000086205	ENSG00000086205	3.4.17.21		3788	protein-coding gene	gene with protein product	"glutamate carboxylase II", "glutamate carboxypeptidase II"	600934		FOLH		9838072	Standard	NM_001193472		Approved	PSM, PSMA, NAALAD1, NAALAdase, GCP2, GCPII	uc001ngy.3	Q04609	OTTHUMG00000166625	ENST00000256999.2:c.1404G>A	11.37:g.49186293C>T						FOLH1_ENST00000525629.1_5'UTR|FOLH1_ENST00000256999.2_Silent_p.P468P|FOLH1_ENST00000356696.3_Silent_p.P468P|FOLH1_ENST00000343844.4_Silent_p.P160P|FOLH1_ENST00000533034.1_Silent_p.P453P	p.P453P	NM_001193471.1|NM_001193472.1	NP_001180400.1|NP_001180401.1	Q04609	FOLH1_HUMAN			14	1727	-			468			NAALADase.		A4UU12|A9CB79|B7Z312|B7Z343|D3DQS5|E9PDX8|O43748|Q16305|Q541A4|Q8TAY3|Q9NP15|Q9NYE2|Q9P1P8	Silent	SNP	ENST00000256999.2	37	c.1359G>A	CCDS7946.1																																																																																				0.284	FOLH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390896.1	NM_004476		3	53	0	0	0	1	0	3	53					T	49186293	C	T	49186293	2	4	64	1	0	0	0	0	0	0	0	1	5979	755	27	1		1	FOLH1	11	49186293	Silent	SNP	C	TCGA-EJ-5516-01A-01D-1576-08	30606448	49186293	85820223	34	3267											
SFRS2IP	9169	broad.mit.edu	37	chr12	46322640	46322640	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgcatatcccttgcaagaagTacctaataatatttaaaaaa	18	12	4	7	0	0	1	0	0	0	1	1	1	1	1	2	0	3	3	2	0	10	8			TCGA-EJ-5516-01A-01D-1576-08	TCGA-EJ-5516-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dbdfe2-f446-463e-847c-885759682c43	b4bf3137-c8ca-4491-bbfc-3d864e521faf	g.chr12:46322640T>A	ENST00000369367.3	-	11	1077	c.844A>T	c.(844-846)Act>Tct	p.T282S	SCAF11_ENST00000549162.1_Missense_Mutation_p.T90S|SCAF11_ENST00000419565.2_Missense_Mutation_p.T282S|SCAF11_ENST00000465950.1_5'UTR	NM_004719.2	NP_004710.2	Q99590	SCAFB_HUMAN	SR-related CTD-associated factor 11	282					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)|spliceosomal complex assembly (GO:0000245)	nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.T282S(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(17)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	69						TTGCAAGAAGTACCtaataat	0.308																																						ENST00000369367.3																			1	Substitution - Missense(1)	p.T282S(1)	prostate(1)	breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(17)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	69						c.(844-846)Act>Tct		SR-related CTD-associated factor 11							52	52	52					12																	46322640		2202	4300	6502	SO:0001583	missense	9169				spliceosome assembly	nucleus	protein binding|zinc ion binding	g.chr12:46322640T>A	Y11251	CCDS8748.2	12q13.11	2013-01-09	2011-01-10	2011-01-10	ENSG00000139218	ENSG00000139218		"RING-type (C3HC4) zinc fingers"	10784	protein-coding gene	gene with protein product		603668	"splicing factor, arginine/serine-rich 2, interacting protein", "serine/arginine-rich splicing factor 2, interacting protein"	SFRS2IP, SRSF2IP		9224939, 9447963	Standard	NM_004719		Approved	SIP1, SRRP129, CASP11	uc001rox.3	Q99590	OTTHUMG00000149930	ENST00000369367.3:c.844A>T	12.37:g.46322640T>A	ENSP00000358374:p.Thr282Ser					SCAF11_ENST00000465950.1_5'UTR|SCAF11_ENST00000419565.2_Missense_Mutation_p.T282S|SCAF11_ENST00000549162.1_Missense_Mutation_p.T90S	p.T282S	NM_004719.2	NP_004710.2	Q99590	SCAFB_HUMAN			11	1077	-			282					A6NEU9|A6NLW5|Q8IW59	Missense_Mutation	SNP	ENST00000369367.3	37	c.844A>T	CCDS8748.2	.	.	.	.	.	.	.	.	.	.	T	5.161	0.215206	0.09810	.	.	ENSG00000139218	ENST00000369367;ENST00000549162;ENST00000419565;ENST00000547018	T;T;T;T	0.39787	1.06;1.8;1.06;1.06	5.77	1.68	0.24146	.	0.165297	0.28301	U	0.015855	T	0.24470	0.0593	N	0.20986	0.625	0.09310	N	1	B;B	0.16603	0.018;0.01	B;B	0.10450	0.005;0.002	T	0.20472	-1.0274	10	0.12103	T	0.63	-3.5362	10.7663	0.46295	0.5441:0.0:0.0:0.4559	.	90;282	F8VXG7;Q99590	.;SCAFB_HUMAN	S	282;90;282;222	ENSP00000358374:T282S;ENSP00000448864:T90S;ENSP00000413036:T282S;ENSP00000446746:T222S	ENSP00000358374:T282S	T	-	1	0	SCAF11	44608907	0.996000	0.38824	0.888000	0.34837	0.851000	0.48451	1.063000	0.30567	0.391000	0.25143	0.477000	0.44152	ACT		0.308	SCAF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313992.2	NM_004719		6	123	0	0	0	1	0	6	123					A	46322640	T	A	46322640	3	1	64	1	0	0	0	0	1	0	0	0	14177	1638	57	5	3567	5	SFRS2IP	12	46322640	Missense_Mutation	SNP	T	TCGA-EJ-5516-01A-01D-1576-08		46322640	87529255	35	3268											
DIP2B	57609	broad.mit.edu	37	chr12	51089055	51089055	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttctttgtttttcagaatgtAatgaataagatgcacacaat	14	16	6	5	0	2	3	1	1	1	2	2	3	2	3	0	0	1	3	0	0	5	6			TCGA-EJ-5516-01A-01D-1576-08	TCGA-EJ-5516-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dbdfe2-f446-463e-847c-885759682c43	b4bf3137-c8ca-4491-bbfc-3d864e521faf	g.chr12:51089055A>T	ENST00000301180.5	+	15	1759	c.1725A>T	c.(1723-1725)gtA>gtT	p.V575V		NM_173602.2	NP_775873.2	Q9P265	DIP2B_HUMAN	DIP2 disco-interacting protein 2 homolog B (Drosophila)	575						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	catalytic activity (GO:0003824)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(15)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	60						TTCAGAATGTAATGAATAAGA	0.333																																						ENST00000301180.5																			0				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(15)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	60						c.(1723-1725)gtA>gtT		DIP2 disco-interacting protein 2 homolog B (Drosophila)							132	129	130					12																	51089055		2203	4300	6503	SO:0001819	synonymous_variant	57609					nucleus	catalytic activity|transcription factor binding	g.chr12:51089055A>T	AB040896	CCDS31799.1	12q13.12	2012-10-02	2006-01-13		ENSG00000066084	ENSG00000066084			29284	protein-coding gene	gene with protein product		611379					Standard	XM_005269044		Approved	KIAA1463, FLJ34278	uc001rwv.3	Q9P265	OTTHUMG00000169475	ENST00000301180.5:c.1725A>T	12.37:g.51089055A>T							p.V575V	NM_173602.2	NP_775873.2	Q9P265	DIP2B_HUMAN			15	1759	+			575					Q6B011|Q8N1L5|Q8NB38	Silent	SNP	ENST00000301180.5	37	c.1725A>T	CCDS31799.1																																																																																				0.333	DIP2B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404243.1	NM_173602		7	234	0	0	0	1	0	7	234					T	51089055	A	T	51089055	2	4	64	1	0	0	0	0	0	0	0	1	4528	349	13	5		5	DIP2B	12	51089055	Silent	SNP	A	TCGA-EJ-5516-01A-01D-1576-08	4766415	51089055	82762840	36	3269											
TIMELESS	8914	broad.mit.edu	37	chr12	56811998	56811998	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgctcggtgctctttacagTgctcctcatcagagccttgc	5	13	10	13	1	3	1	2	0	1	1	5	1	4	1	2	1	6	3	2	1	1	3			TCGA-EJ-5516-01A-01D-1576-08	TCGA-EJ-5516-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dbdfe2-f446-463e-847c-885759682c43	b4bf3137-c8ca-4491-bbfc-3d864e521faf	g.chr12:56811998T>C	ENST00000553532.1	-	27	3524	c.3374A>G	c.(3373-3375)cAc>cGc	p.H1125R	TIMELESS_ENST00000554616.1_Missense_Mutation_p.H622R|TIMELESS_ENST00000229201.4_Missense_Mutation_p.H1124R					timeless circadian clock									p.H1125R(1)		NS(1)|breast(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(8)|lung(14)|ovary(7)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	49						CTCTTTACAGTGCTCCTCATC	0.582																																						ENST00000229201.4																			1	Substitution - Missense(1)	p.H1125R(1)	prostate(1)	NS(1)|breast(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(8)|lung(14)|ovary(7)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	49						c.(3370-3372)cAc>cGc		timeless circadian clock							151	159	157					12																	56811998		2203	4300	6503	SO:0001583	missense	8914				cell division|circadian rhythm|detection of abiotic stimulus|mitosis|morphogenesis of an epithelium|negative regulation of transcription, DNA-dependent|regulation of S phase|response to DNA damage stimulus|transcription, DNA-dependent	nuclear chromatin		g.chr12:56811998T>C	AF098162	CCDS8918.1	12q13.3	2012-12-14	2012-12-14		ENSG00000111602	ENSG00000111602			11813	protein-coding gene	gene with protein product	"Tof1 homolog (S. cerevisiae)", "timeless circadian clock 1"	603887	"timeless (Drosophila) homolog", "timeless homolog (Drosophila)"			9856465	Standard	NM_003920		Approved	hTIM, TIM, TIM1	uc001slf.2	Q9UNS1	OTTHUMG00000170600	ENST00000553532.1:c.3374A>G	12.37:g.56811998T>C	ENSP00000450607:p.His1125Arg					TIMELESS_ENST00000554616.1_Missense_Mutation_p.H622R|TIMELESS_ENST00000553532.1_Missense_Mutation_p.H1125R	p.H1124R	NM_003920.3	NP_003911.2	Q9UNS1	TIM_HUMAN			27	3525	-			1125						Missense_Mutation	SNP	ENST00000553532.1	37	c.3371A>G	CCDS8918.1	.	.	.	.	.	.	.	.	.	.	T	11.84	1.758030	0.31137	.	.	ENSG00000111602	ENST00000229201;ENST00000553532;ENST00000554616	T;T;T	0.10960	3.35;3.35;2.82	5.26	2.65	0.31530	Timeless C-terminal (1);	0.527781	0.19233	N	0.119343	T	0.08358	0.0208	L	0.36672	1.1	0.20873	N	0.999837	B	0.22983	0.078	B	0.22880	0.042	T	0.35450	-0.9788	10	0.15499	T	0.54	.	10.3095	0.43699	0.0:0.0:0.3138:0.6862	.	1125	Q9UNS1	TIM_HUMAN	R	1124;1125;622	ENSP00000229201:H1124R;ENSP00000450607:H1125R;ENSP00000450848:H622R	ENSP00000229201:H1125R	H	-	2	0	TIMELESS	55098265	0.296000	0.24398	0.892000	0.35008	0.200000	0.23975	0.858000	0.27845	0.906000	0.36621	0.533000	0.62120	CAC		0.582	TIMELESS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000409771.1	NM_003920		90	562	0	0	0	1	0	90	562					C	56811998	T	C	56811998	3	2	64	1	0	0	0	0	1	0	0	0	15901	1696	59	4	264	4	TIMELESS	12	56811998	Missense_Mutation	SNP	T	TCGA-EJ-5516-01A-01D-1576-08	5722943	56811998	77039897	37	3270											
RNF17	56163	broad.mit.edu	37	chr13	25376711	25376711	+	Splice_Site	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tttttatggaactagcaaagTaagtaacttattaaaactta	17	15	5	4	0	0	0	0	0	0	0	0	1	0	1	0	1	4	3	0	1	10	9			TCGA-EJ-5516-01A-01D-1576-08	TCGA-EJ-5516-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dbdfe2-f446-463e-847c-885759682c43	b4bf3137-c8ca-4491-bbfc-3d864e521faf	g.chr13:25376711T>A	ENST00000255324.5	+	14	2001		c.e14+2		RNF17_ENST00000381921.1_Splice_Site|RNF17_ENST00000255325.6_Splice_Site	NM_001184993.1|NM_031277.2	NP_001171922.1|NP_112567.2	Q9BXT8	RNF17_HUMAN	ring finger protein 17						multicellular organismal development (GO:0007275)|spermatid development (GO:0007286)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	hydrolase activity, acting on ester bonds (GO:0016788)|nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)	p.?(4)		NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6)	36		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)		ACTAGCAAAGTAAGTAACTTA	0.323																																						ENST00000255324.5																			4	Unknown(4)	p.?(4)	prostate(4)	NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6)	36						c.e14+2		ring finger protein 17							75	79	77					13																	25376711		2203	4300	6503	SO:0001630	splice_region_variant	56163				multicellular organismal development	cytoplasm|nucleus	hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding	g.chr13:25376711T>A	AF285602, AK001907	CCDS9308.2	13q12.13	2013-01-23			ENSG00000132972	ENSG00000132972		"RING-type (C3HC4) zinc fingers", "Tudor domain containing"	10060	protein-coding gene	gene with protein product	"spermatogenesis associated 23"	605793	"tudor domain containing 4"	TDRD4		11279525	Standard	NM_001184993		Approved	Mmip-2, SPATA23, FLJ11045	uc001upr.3	Q9BXT8	OTTHUMG00000016589	ENST00000255324.5:c.1949+2T>A	13.37:g.25376711T>A						RNF17_ENST00000381921.1_Splice_Site|RNF17_ENST00000255325.5_Splice_Site		NM_001184993.1|NM_031277.2	NP_001171922.1|NP_112567.2	Q9BXT8	RNF17_HUMAN		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)	14	2001	+		Lung SC(185;0.0225)|Breast(139;0.077)						Q5T2J9|Q6P1W3|Q9BXT7|Q9NUY9	Splice_Site	SNP	ENST00000255324.5	37		CCDS9308.2	.	.	.	.	.	.	.	.	.	.	T	19.59	3.857059	0.71834	.	.	ENSG00000132972	ENST00000255324;ENST00000381921;ENST00000429047;ENST00000255325	.	.	.	4.75	4.75	0.60458	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.3697	0.60707	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	RNF17	24274711	1.000000	0.71417	0.999000	0.59377	0.962000	0.63368	3.699000	0.54778	1.997000	0.58415	0.482000	0.46254	.		0.323	RNF17-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044217.1	NM_031994	Intron	8	170	0	0	0	1	0	8	170					A	25376711	T	A	25376711	5	1	64	1	0	0	0	0	0	0	1	0	13461	1652	57	5	2005	5	RNF17	13	25376711	Splice_Site	SNP	T	TCGA-EJ-5516-01A-01D-1576-08		25376711	89793167	38	3271											
KBTBD7	84078	broad.mit.edu	37	chr13	41767606	41767606	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agtgcatccagcgcacgcacTtgaagacttctgcagcactg	10	8	10	13	2	1	2	0	1	1	1	2	2	2	2	1	0	4	5	1	0	1	2			TCGA-EJ-5516-01A-01D-1576-08	TCGA-EJ-5516-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dbdfe2-f446-463e-847c-885759682c43	b4bf3137-c8ca-4491-bbfc-3d864e521faf	g.chr13:41767606T>C	ENST00000379483.3	-	1	1096	c.788A>G	c.(787-789)aAg>aGg	p.K263R		NM_032138.4	NP_115514.2	Q8WVZ9	KBTB7_HUMAN	kelch repeat and BTB (POZ) domain containing 7	263								p.K263R(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(8)|ovary(4)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24		Lung NSC(96;0.000105)|Breast(139;0.00715)|Prostate(109;0.0233)|Lung SC(185;0.0367)		all cancers(112;6.21e-09)|Epithelial(112;6.99e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000196)|GBM - Glioblastoma multiforme(144;0.000857)|BRCA - Breast invasive adenocarcinoma(63;0.0669)		GCGCACGCACTTGAAGACTTC	0.537																																						ENST00000379483.3																			1	Substitution - Missense(1)	p.K263R(1)	prostate(1)	central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(8)|ovary(4)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24						c.(787-789)aAg>aGg		kelch repeat and BTB (POZ) domain containing 7							65	67	66					13																	41767606		2203	4300	6503	SO:0001583	missense	84078						protein binding	g.chr13:41767606T>C	AL136782	CCDS9377.1	13q13.3	2013-01-08			ENSG00000120696	ENSG00000120696		"BTB/POZ domain containing"	25266	protein-coding gene	gene with protein product						11230166	Standard	NM_032138		Approved	DKFZP434E2318	uc001uxw.1	Q8WVZ9	OTTHUMG00000016789	ENST00000379483.3:c.788A>G	13.37:g.41767606T>C	ENSP00000368797:p.Lys263Arg						p.K263R	NM_032138.4	NP_115514.2	Q8WVZ9	KBTB7_HUMAN		all cancers(112;6.21e-09)|Epithelial(112;6.99e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000196)|GBM - Glioblastoma multiforme(144;0.000857)|BRCA - Breast invasive adenocarcinoma(63;0.0669)	1	1096	-		Lung NSC(96;0.000105)|Breast(139;0.00715)|Prostate(109;0.0233)|Lung SC(185;0.0367)	263					B5TZ86|Q5T6Y7|Q8NB99|Q9H0I6	Missense_Mutation	SNP	ENST00000379483.3	37	c.788A>G	CCDS9377.1	.	.	.	.	.	.	.	.	.	.	T	7.600	0.672492	0.14776	.	.	ENSG00000120696	ENST00000379483;ENST00000501885	T	0.68903	-0.36	4.98	2.21	0.28008	BTB/Kelch-associated (2);	0.499292	0.19859	N	0.104468	T	0.37892	0.1020	N	0.03948	-0.315	0.27228	N	0.959472	B	0.10296	0.003	B	0.16289	0.015	T	0.21999	-1.0229	10	0.35671	T	0.21	.	6.4282	0.21782	0.0:0.3115:0.0:0.6885	.	263	Q8WVZ9	KBTB7_HUMAN	R	263;165	ENSP00000368797:K263R	ENSP00000368797:K263R	K	-	2	0	KBTBD7	40665606	1.000000	0.71417	1.000000	0.80357	0.783000	0.44284	1.427000	0.34881	0.742000	0.32697	0.455000	0.32223	AAG		0.537	KBTBD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044660.1	NM_032138		4	114	0	0	0	1	0	4	114					C	41767606	T	C	41767606	3	2	64	1	0	0	0	0	1	0	0	0	7998	1609	56	4	1270	4	KBTBD7	13	41767606	Missense_Mutation	SNP	T	TCGA-EJ-5516-01A-01D-1576-08	16390895	41767606	73402272	39	3272											
THBS1	7057	broad.mit.edu	37	chr15	39874829	39874829	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggaagacagggcccagctgtAcatcgactgtgaaaagatgg	13	6	14	8	1	0	3	0	1	0	2	1	5	0	4	1	3	2	2	1	3	4	1			TCGA-EJ-5516-01A-01D-1576-08	TCGA-EJ-5516-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dbdfe2-f446-463e-847c-885759682c43	b4bf3137-c8ca-4491-bbfc-3d864e521faf	g.chr15:39874829A>G	ENST00000260356.5	+	3	668	c.503A>G	c.(502-504)tAc>tGc	p.Y168C		NM_003246.2	NP_003237.2	P07996	TSP1_HUMAN	thrombospondin 1	168	Laminin G-like.				activation of MAPK activity (GO:0000187)|behavioral response to pain (GO:0048266)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular response to growth factor stimulus (GO:0071363)|cellular response to heat (GO:0034605)|cellular response to tumor necrosis factor (GO:0071356)|chronic inflammatory response (GO:0002544)|endocardial cushion development (GO:0003197)|engulfment of apoptotic cell (GO:0043652)|extracellular matrix organization (GO:0030198)|growth plate cartilage development (GO:0003417)|immune response (GO:0006955)|negative regulation of angiogenesis (GO:0016525)|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II (GO:0002581)|negative regulation of apoptotic process (GO:0043066)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of cGMP-mediated signaling (GO:0010754)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of dendritic cell antigen processing and presentation (GO:0002605)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of fibrinolysis (GO:0051918)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of nitric oxide mediated signal transduction (GO:0010751)|negative regulation of plasma membrane long-chain fatty acid transport (GO:0010748)|negative regulation of plasminogen activation (GO:0010757)|outflow tract morphogenesis (GO:0003151)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood coagulation (GO:0030194)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell migration (GO:0030335)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of chemotaxis (GO:0050921)|positive regulation of endothelial cell apoptotic process (GO:2000353)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of fibroblast migration (GO:0010763)|positive regulation of macrophage activation (GO:0043032)|positive regulation of macrophage chemotaxis (GO:0010759)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|positive regulation of transforming growth factor beta1 production (GO:0032914)|positive regulation of translation (GO:0045727)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|response to calcium ion (GO:0051592)|response to drug (GO:0042493)|response to endoplasmic reticulum stress (GO:0034976)|response to glucose (GO:0009749)|response to hypoxia (GO:0001666)|response to magnesium ion (GO:0032026)|response to mechanical stimulus (GO:0009612)|response to progesterone (GO:0032570)|response to testosterone (GO:0033574)|response to unfolded protein (GO:0006986)|sprouting angiogenesis (GO:0002040)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|sarcoplasmic reticulum (GO:0016529)|secretory granule (GO:0030141)	calcium ion binding (GO:0005509)|collagen V binding (GO:0070052)|fibrinogen binding (GO:0070051)|fibroblast growth factor binding (GO:0017134)|fibronectin binding (GO:0001968)|glycoprotein binding (GO:0001948)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|integrin binding (GO:0005178)|laminin binding (GO:0043236)|low-density lipoprotein particle binding (GO:0030169)|phosphatidylserine binding (GO:0001786)|proteoglycan binding (GO:0043394)|transforming growth factor beta binding (GO:0050431)	p.Y168C(1)		breast(1)|central_nervous_system(3)|endometrium(8)|kidney(5)|large_intestine(15)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	53		all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223)		GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105)		GCCCAGCTGTACATCGACTGT	0.562																																						ENST00000260356.5																			1	Substitution - Missense(1)	p.Y168C(1)	prostate(1)	breast(1)|central_nervous_system(3)|endometrium(8)|kidney(5)|large_intestine(15)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	53						c.(502-504)tAc>tGc		thrombospondin 1	Becaplermin(DB00102)						69	53	58					15																	39874829		2200	4297	6497	SO:0001583	missense	7057				activation of MAPK activity|anti-apoptosis|apoptosis|cell adhesion|cell cycle arrest|cell migration|cellular response to heat|chronic inflammatory response|engulfment of apoptotic cell|immune response|induction of apoptosis|negative regulation of angiogenesis|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|negative regulation of blood vessel endothelial cell migration|negative regulation of caspase activity|negative regulation of cGMP-mediated signaling|negative regulation of dendritic cell antigen processing and presentation|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of focal adhesion assembly|negative regulation of interleukin-12 production|negative regulation of nitric oxide mediated signal transduction|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of plasminogen activation|peptide cross-linking|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of fibroblast migration|positive regulation of macrophage activation|positive regulation of macrophage chemotaxis|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transforming growth factor-beta1 production|positive regulation of translation|positive regulation of tumor necrosis factor biosynthetic process|response to calcium ion|response to drug|response to glucose stimulus|response to hypoxia|response to magnesium ion|response to progesterone stimulus|sprouting angiogenesis	external side of plasma membrane|extracellular matrix|fibrinogen complex|platelet alpha granule lumen	calcium ion binding|collagen V binding|eukaryotic cell surface binding|fibrinogen binding|fibroblast growth factor 2 binding|fibronectin binding|heparin binding|identical protein binding|integrin binding|laminin binding|low-density lipoprotein particle binding|phosphatidylserine binding|proteoglycan binding|structural molecule activity|transforming growth factor beta binding	g.chr15:39874829A>G		CCDS32194.1	15q15	2009-04-08			ENSG00000137801	ENSG00000137801			11785	protein-coding gene	gene with protein product	"thrombospondin-1p180"	188060				2341158, 2335352	Standard	NM_003246		Approved	TSP1, THBS, TSP, THBS-1, TSP-1	uc001zkh.3	P07996	OTTHUMG00000133665	ENST00000260356.5:c.503A>G	15.37:g.39874829A>G	ENSP00000260356:p.Tyr168Cys						p.Y168C	NM_003246.2	NP_003237.2	P07996	TSP1_HUMAN		GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105)	3	668	+		all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223)	168			TSP N-terminal.		A8K6H4|B4E3J7|B9EGH6|Q15667|Q59E99	Missense_Mutation	SNP	ENST00000260356.5	37	c.503A>G	CCDS32194.1	.	.	.	.	.	.	.	.	.	.	A	20.5	3.994878	0.74703	.	.	ENSG00000137801	ENST00000260356	T	0.03524	3.9	5.41	5.41	0.78517	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G, thrombospondin-type, N-terminal (1);	0.000000	0.32852	N	0.005571	T	0.16685	0.0401	M	0.73962	2.25	0.53005	D	0.999964	D	0.76494	0.999	D	0.66602	0.945	T	0.00091	-1.2084	10	0.87932	D	0	-39.3674	14.7667	0.69646	1.0:0.0:0.0:0.0	.	168	P07996	TSP1_HUMAN	C	168	ENSP00000260356:Y168C	ENSP00000260356:Y168C	Y	+	2	0	THBS1	37662121	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.831000	0.55776	2.267000	0.75376	0.533000	0.62120	TAC		0.562	THBS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257831.2	NM_003246		5	84	0	0	0	1	0	5	84					G	39874829	A	G	39874829	3	3	64	1	0	0	0	0	1	0	0	0	15850	391	14	4	509	4	THBS1	15	39874829	Missense_Mutation	SNP	A	TCGA-EJ-5516-01A-01D-1576-08		39874829	62656563	40	3273											
PPIP5K1	9677	broad.mit.edu	37	chr15	43827082	43827082	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gggctgccaacttctacaagGgtttcctggaccaagctacc	9	9	10	13	0	1	0	0	0	1	0	2	1	2	1	4	3	5	3	4	3	5	4			TCGA-EJ-5516-01A-01D-1576-08	TCGA-EJ-5516-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dbdfe2-f446-463e-847c-885759682c43	b4bf3137-c8ca-4491-bbfc-3d864e521faf	g.chr15:43827082G>A	ENST00000396923.3	-	30	4213	c.4092C>T	c.(4090-4092)acC>acT	p.T1364T	PPIP5K1_ENST00000334933.4_Silent_p.T1339T|PPIP5K1_ENST00000381885.1_Silent_p.T1360T|PPIP5K1_ENST00000360301.4_Silent_p.T1339T|PPIP5K1_ENST00000348806.6_Silent_p.T1337T|PPIP5K1_ENST00000381879.4_Silent_p.T1340T|PPIP5K1_ENST00000420765.1_Silent_p.T1364T|PPIP5K1_ENST00000360135.4_Silent_p.T1337T			Q6PFW1	VIP1_HUMAN	diphosphoinositol pentakisphosphate kinase 1	1364					inositol metabolic process (GO:0006020)|inositol phosphate metabolic process (GO:0043647)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	acid phosphatase activity (GO:0003993)|ATP binding (GO:0005524)|diphosphoinositol-pentakisphosphate kinase activity (GO:0033857)|inositol hexakisphosphate 1-kinase activity (GO:0052723)|inositol hexakisphosphate 3-kinase activity (GO:0052724)|inositol hexakisphosphate 5-kinase activity (GO:0000832)|inositol-1,3,4,5,6-pentakisphosphate kinase activity (GO:0000827)	p.T1364T(1)		large_intestine(1)	1						CTTCTACAAGGGTTTCCTGGA	0.577																																						ENST00000420765.1																			1	Substitution - coding silent(1)	p.T1364T(1)	prostate(1)	large_intestine(1)	1						c.(4090-4092)acC>acT		diphosphoinositol pentakisphosphate kinase 1							96	98	98					15																	43827082		2201	4298	6499	SO:0001819	synonymous_variant	9677				inositol metabolic process	cytosol	acid phosphatase activity|ATP binding|diphosphoinositol-pentakisphosphate kinase activity|inositol 1,3,4,5,6-pentakisphosphate kinase activity|inositol hexakisphosphate 5-kinase activity	g.chr15:43827082G>A	AF502586	CCDS32215.1, CCDS45252.1, CCDS53937.1	15q15.3	2010-01-27	2010-01-26	2010-01-26	ENSG00000168781	ENSG00000168781	2.7.4.24		29023	protein-coding gene	gene with protein product		610979	"histidine acid phosphatase domain containing 2A"	HISPPD2A		17412958, 17690096, 18981179	Standard	NM_001190214		Approved	KIAA0377, IPS1, VIP1	uc001zrw.3	Q6PFW1	OTTHUMG00000059758	ENST00000396923.3:c.4092C>T	15.37:g.43827082G>A						PPIP5K1_ENST00000396923.3_Silent_p.T1364T|PPIP5K1_ENST00000381879.4_Silent_p.T1340T|PPIP5K1_ENST00000381885.1_Silent_p.T1360T|PPIP5K1_ENST00000360301.4_Silent_p.T1339T|PPIP5K1_ENST00000348806.6_Silent_p.T1337T|PPIP5K1_ENST00000334933.4_Silent_p.T1339T|PPIP5K1_ENST00000360135.4_Silent_p.T1337T	p.T1364T	NM_001130858.2	NP_001124330.1	Q6PFW1	VIP1_HUMAN			31	4274	-			1364					O15082|Q5HYF8|Q7Z3A7|Q86TE7|Q86UV3|Q86UV4|Q86XW8|Q8IZN0	Silent	SNP	ENST00000396923.3	37	c.4092C>T	CCDS45252.1																																																																																				0.577	PPIP5K1-002	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000132907.1	NM_014659		8	217	0	0	0	1	0	8	217					A	43827082	G	A	43827082	2	1	64	1	0	0	0	0	0	0	0	1	12332	1219	43	3		3	PPIP5K1	15	43827082	Silent	SNP	G	TCGA-EJ-5516-01A-01D-1576-08	3952253	43827082	58704310	41	3274											
EEF2K	29904	broad.mit.edu	37	chr16	22278045	22278045	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcgctaccacgagggtgggCgcttctgcgagaagggcgag	7	6	18	10	5	1	1	0	0	1	1	1	4	1	1	1	3	3	2	1	3	2	2			TCGA-EJ-5516-01A-01D-1576-08	TCGA-EJ-5516-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dbdfe2-f446-463e-847c-885759682c43	b4bf3137-c8ca-4491-bbfc-3d864e521faf	g.chr16:22278045C>T	ENST00000263026.5	+	15	2086	c.1612C>T	c.(1612-1614)Cgc>Tgc	p.R538C		NM_013302.3	NP_037434	O00418	EF2K_HUMAN	eukaryotic elongation factor-2 kinase	538					insulin receptor signaling pathway (GO:0008286)|protein autophosphorylation (GO:0046777)|regulation of protein autophosphorylation (GO:0031952)|translational elongation (GO:0006414)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|elongation factor-2 kinase activity (GO:0004686)|protein kinase activity (GO:0004672)|translation factor activity, nucleic acid binding (GO:0008135)	p.R538C(2)		breast(1)|central_nervous_system(1)|endometrium(8)|large_intestine(2)|lung(13)|ovary(1)|prostate(1)|skin(2)	29				GBM - Glioblastoma multiforme(48;0.0223)		CGAGGGTGGGCGCTTCTGCGA	0.682																																					NSCLC(195;1411 2157 20319 27471 51856)	ENST00000263026.5																			2	Substitution - Missense(2)	p.R538C(2)	prostate(2)	breast(1)|central_nervous_system(1)|endometrium(8)|large_intestine(2)|lung(13)|ovary(1)|prostate(1)|skin(2)	29						c.(1612-1614)Cgc>Tgc		eukaryotic elongation factor-2 kinase							57	50	52					16																	22278045		2197	4300	6497	SO:0001583	missense	29904				insulin receptor signaling pathway|translational elongation	cytosol	ATP binding|calcium ion binding|calmodulin binding|elongation factor-2 kinase activity|translation factor activity, nucleic acid binding	g.chr16:22278045C>T	U93850	CCDS10604.1	16p12	2008-02-05			ENSG00000103319	ENSG00000103319			24615	protein-coding gene	gene with protein product		606968				9144159, 12051769	Standard	NM_013302		Approved	eEF-2K	uc002dki.3	O00418	OTTHUMG00000094771	ENST00000263026.5:c.1612C>T	16.37:g.22278045C>T	ENSP00000263026:p.Arg538Cys						p.R538C	NM_013302.3	NP_037434.1	O00418	EF2K_HUMAN		GBM - Glioblastoma multiforme(48;0.0223)	15	2086	+			538					Q8N588	Missense_Mutation	SNP	ENST00000263026.5	37	c.1612C>T	CCDS10604.1	.	.	.	.	.	.	.	.	.	.	C	35	5.498840	0.96355	.	.	ENSG00000103319	ENST00000263026	T	0.14766	2.48	6.17	6.17	0.99709	Tetratricopeptide-like helical (1);	0.000000	0.85682	D	0.000000	T	0.41604	0.1166	M	0.72894	2.215	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.05257	-1.0896	10	0.87932	D	0	-7.1997	20.8794	0.99867	0.0:1.0:0.0:0.0	.	538	O00418	EF2K_HUMAN	C	538	ENSP00000263026:R538C	ENSP00000263026:R538C	R	+	1	0	EEF2K	22185546	1.000000	0.71417	0.994000	0.49952	0.964000	0.63967	5.644000	0.67902	2.941000	0.99782	0.655000	0.94253	CGC		0.682	EEF2K-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211580.2	NM_013302		9	88	0	0	0	1	0	9	88					T	22278045	C	T	22278045	3	4	64	1	0	0	0	0	1	0	0	0	4930	768	27	1	1666	1	EEF2K	16	22278045	Missense_Mutation	SNP	C	TCGA-EJ-5516-01A-01D-1576-08		22278045	68076708	42	3275											
MYH8	4626	broad.mit.edu	37	chr17	10310244	10310244	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cattgggaatgatacaccgtAcgaagtgagggtgtgtgctc	10	10	14	7	2	0	2	0	2	0	0	1	4	0	3	1	2	3	2	1	2	4	3			TCGA-EJ-5516-01A-01D-1576-08	TCGA-EJ-5516-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dbdfe2-f446-463e-847c-885759682c43	b4bf3137-c8ca-4491-bbfc-3d864e521faf	g.chr17:10310244A>G	ENST00000403437.2	-	18	2112	c.2018T>C	c.(2017-2019)gTa>gCa	p.V673A	RP11-799N11.1_ENST00000581304.1_RNA|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	673	Actin-binding.|Myosin motor.				ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|skeletal muscle contraction (GO:0003009)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|myosin light chain binding (GO:0032027)|structural constituent of muscle (GO:0008307)	p.V673A(1)		NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						GATACACCGTACGAAGTGAGG	0.383									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling																													ENST00000403437.2																			1	Substitution - Missense(1)	p.V673A(1)	prostate(1)	NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						c.(2017-2019)gTa>gCa		myosin, heavy chain 8, skeletal muscle, perinatal							99	91	93					17																	10310244		2203	4300	6503	SO:0001583	missense	4626	Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling	Familial Cancer Database	Carney Complex Variant	muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle	g.chr17:10310244A>G		CCDS11153.1	17p13.1	2013-09-19	2006-09-29		ENSG00000133020	ENSG00000133020		"Myosins / Myosin superfamily : Class II"	7578	protein-coding gene	gene with protein product		160741	"myosin, heavy polypeptide 8, skeletal muscle, perinatal"			2373371	Standard	NM_002472		Approved	MyHC-peri, MyHC-pn	uc002gmm.2	P13535	OTTHUMG00000130361	ENST00000403437.2:c.2018T>C	17.37:g.10310244A>G	ENSP00000384330:p.Val673Ala					CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA	p.V673A	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN			18	2112	-			673			Actin-binding.|Myosin head-like.		Q14910	Missense_Mutation	SNP	ENST00000403437.2	37	c.2018T>C	CCDS11153.1	.	.	.	.	.	.	.	.	.	.	A	24.8	4.565725	0.86439	.	.	ENSG00000133020	ENST00000252173;ENST00000403437	T	0.77229	-1.08	5.07	5.07	0.68467	Myosin head, motor domain (2);	0.000000	0.37577	U	0.002032	D	0.92166	0.7516	H	0.97315	3.98	0.58432	D	0.999998	D	0.89917	1.0	D	0.91635	0.999	D	0.94795	0.7965	10	0.87932	D	0	.	15.0034	0.71492	1.0:0.0:0.0:0.0	.	673	P13535	MYH8_HUMAN	A	673	ENSP00000384330:V673A	ENSP00000252173:V673A	V	-	2	0	MYH8	10250969	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	8.995000	0.93534	2.142000	0.66516	0.528000	0.53228	GTA		0.383	MYH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252724.2	NM_002472		22	126	0	0	0	1	0	22	126					G	10310244	A	G	10310244	3	3	64	1	0	0	0	0	1	0	0	0	10041	391	14	4	3887	4	MYH8	17	10310244	Missense_Mutation	SNP	A	TCGA-EJ-5516-01A-01D-1576-08		10310244	70884966	43	3276											
ROCK1	6093	broad.mit.edu	37	chr18	18586746	18586746	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttccaactgatcctttaatgTagaaactagaaaatgaaaga	18	11	6	6	0	0	5	0	2	0	3	2	5	2	5	2	0	2	1	2	0	8	5			TCGA-EJ-5516-01A-01D-1576-08	TCGA-EJ-5516-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dbdfe2-f446-463e-847c-885759682c43	b4bf3137-c8ca-4491-bbfc-3d864e521faf	g.chr18:18586746T>A	ENST00000399799.2	-	15	2492	c.1552A>T	c.(1552-1554)Aca>Tca	p.T518S		NM_005406.2	NP_005397.1	Q13464	ROCK1_HUMAN	Rho-associated, coiled-coil containing protein kinase 1	518	Interaction with FHOD1.				actin cytoskeleton organization (GO:0030036)|apical constriction (GO:0003383)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|bleb assembly (GO:0032060)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte tethering or rolling (GO:0050901)|membrane to membrane docking (GO:0022614)|myoblast migration (GO:0051451)|negative regulation of angiogenesis (GO:0016525)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of focal adhesion assembly (GO:0051894)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell adhesion (GO:0030155)|regulation of cell motility (GO:2000145)|regulation of establishment of cell polarity (GO:2000114)|regulation of focal adhesion assembly (GO:0051893)|regulation of keratinocyte differentiation (GO:0045616)|regulation of stress fiber assembly (GO:0051492)|Rho protein signal transduction (GO:0007266)|signal transduction (GO:0007165)|smooth muscle contraction (GO:0006939)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.T518S(1)		NS(1)|breast(4)|central_nervous_system(1)|large_intestine(8)|lung(2)	16	Melanoma(1;0.165)					TCCTTTAATGTAGAAACTAGA	0.308																																						ENST00000399799.1																			1	Substitution - Missense(1)	p.T518S(1)	prostate(1)	NS(1)|breast(4)|central_nervous_system(1)|large_intestine(8)|lung(2)	16						c.(1552-1554)Aca>Tca		Rho-associated, coiled-coil containing protein kinase 1							57	61	60					18																	18586746		2201	4297	6498	SO:0001583	missense	6093				actin cytoskeleton organization|axon guidance|cellular component disassembly involved in apoptosis|cytokinesis|leukocyte tethering or rolling|membrane to membrane docking|Rho protein signal transduction	centriole|cytosol|Golgi membrane	ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity	g.chr18:18586746T>A		CCDS11870.2	18q11.2	2013-01-10			ENSG00000067900	ENSG00000067900	2.7.11.1	"Pleckstrin homology (PH) domain containing"	10251	protein-coding gene	gene with protein product		601702				8617235	Standard	NM_005406		Approved	p160ROCK	uc002kte.3	Q13464	OTTHUMG00000131723	ENST00000399799.2:c.1552A>T	18.37:g.18586746T>A	ENSP00000382697:p.Thr518Ser						p.T518S	NM_005406.2	NP_005397.1	Q13464	ROCK1_HUMAN			15	2492	-	Melanoma(1;0.165)		518			Interaction with FHOD1.		B0YJ91|Q2KHM4|Q59GZ4	Missense_Mutation	SNP	ENST00000399799.2	37	c.1552A>T	CCDS11870.2	.	.	.	.	.	.	.	.	.	.	T	9.907	1.208593	0.22205	.	.	ENSG00000067900	ENST00000399799	D	0.81996	-1.56	5.44	5.44	0.79542	.	0.049365	0.85682	D	0.000000	T	0.71634	0.3363	N	0.25144	0.715	0.54753	D	0.999988	B	0.10296	0.003	B	0.09377	0.004	T	0.66448	-0.5921	10	0.10377	T	0.69	.	15.6661	0.77230	0.0:0.0:0.0:1.0	.	518	Q13464	ROCK1_HUMAN	S	518	ENSP00000382697:T518S	ENSP00000382697:T518S	T	-	1	0	ROCK1	16840744	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.391000	0.59652	2.285000	0.76669	0.533000	0.62120	ACA		0.308	ROCK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254641.2	NM_005406		7	202	0	0	0	1	0	7	202					A	18586746	T	A	18586746	3	1	64	1	0	0	0	0	1	0	0	0	13517	1638	57	5	2588	5	ROCK1	18	18586746	Missense_Mutation	SNP	T	TCGA-EJ-5516-01A-01D-1576-08		18586746	59490502	44	3277											
ZNRF4	148066	broad.mit.edu	37	chr19	5456787	5456787	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cccctcctgaggcccctggtCagtaaagatctagggcaggg	8	7	13	13	0	2	2	1	1	1	1	3	2	3	2	5	4	0	2	5	4	3	2			TCGA-EJ-5516-01A-01D-1576-08	TCGA-EJ-5516-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dbdfe2-f446-463e-847c-885759682c43	b4bf3137-c8ca-4491-bbfc-3d864e521faf	g.chr19:5456787C>T	ENST00000222033.4	+	1	1362	c.1285C>T	c.(1285-1287)Cag>Tag	p.Q429*		NM_181710.3	NP_859061.3	Q8WWF5	ZNRF4_HUMAN	zinc and ring finger 4	429						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)	p.Q429*(1)		NS(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16				UCEC - Uterine corpus endometrioid carcinoma (162;0.0002)		GGCCCCTGGTCAGTAAAGATC	0.582																																						ENST00000222033.4																			1	Substitution - Nonsense(1)	p.Q429*(1)	prostate(1)	NS(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16						c.(1285-1287)Cag>Tag		zinc and ring finger 4							12	12	12					19																	5456787		1867	4065	5932	SO:0001587	stop_gained	148066					integral to membrane	zinc ion binding	g.chr19:5456787C>T	AK098722	CCDS42475.1	19p13.3	2013-01-09				ENSG00000105428		"RING-type (C3HC4) zinc fingers"	17726	protein-coding gene	gene with protein product		612063					Standard	NM_181710		Approved	spzn, Ssrzf1, RNF204	uc002mca.4	Q8WWF5		ENST00000222033.4:c.1285C>T	19.37:g.5456787C>T	ENSP00000222033:p.Gln429*						p.Q429*	NM_181710.3	NP_859061.3	Q8WWF5	ZNRF4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;0.0002)	1	1362	+			429					A8K886|O75866	Nonsense_Mutation	SNP	ENST00000222033.4	37	c.1285C>T	CCDS42475.1	.	.	.	.	.	.	.	.	.	.	C	13.13	2.145487	0.37825	.	.	ENSG00000105428	ENST00000222033	.	.	.	2.87	-3.66	0.04489	.	31.807900	0.00846	U	0.001784	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	2.3324	0.04239	0.4046:0.288:0.0:0.3073	.	.	.	.	X	429	.	ENSP00000222033:Q429X	Q	+	1	0	ZNRF4	5407787	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-4.752000	0.00190	-0.296000	0.08947	-0.254000	0.11334	CAG		0.582	ZNRF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450924.1	NM_181710		9	37	0	0	0	1	0	9	37					T	5456787	C	T	5456787	4	4	64	1	0	0	0	0	0	1	0	0	18211	827	29	3	1287	3	ZNRF4	19	5456787	Nonsense_Mutation	SNP	C	TCGA-EJ-5516-01A-01D-1576-08		5456787	53672196	45	3278											
SLC6A16	28968	broad.mit.edu	37	chr19	49812329	49812329	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctgtgttagacaaaacttGaccccctgctagagaccaca	12	8	8	13	0	0	3	0	1	0	2	0	4	0	3	4	0	2	2	4	0	4	3			TCGA-EJ-5516-01A-01D-1576-08	TCGA-EJ-5516-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dbdfe2-f446-463e-847c-885759682c43	b4bf3137-c8ca-4491-bbfc-3d864e521faf	g.chr19:49812329G>T	ENST00000335875.4	-	7	1274	c.1033C>A	c.(1033-1035)Caa>Aaa	p.Q345K	MIR4324_ENST00000584846.1_RNA|SLC6A16_ENST00000454748.3_Missense_Mutation_p.Q345K	NM_014037.2	NP_054756.2	Q9GZN6	S6A16_HUMAN	solute carrier family 6, member 16	345					neurotransmitter transport (GO:0006836)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)	neurotransmitter transporter activity (GO:0005326)|neurotransmitter:sodium symporter activity (GO:0005328)	p.Q345K(1)		NS(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00099)|GBM - Glioblastoma multiforme(486;0.0336)		GACAAAACTTGACCCCCTGCT	0.483																																						ENST00000454748.3																			1	Substitution - Missense(1)	p.Q345K(1)	prostate(1)	NS(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32						c.(1033-1035)Caa>Aaa		solute carrier family 6, member 16							174	161	166					19																	49812329		2012	4152	6164	SO:0001583	missense	28968					integral to membrane|intracellular	neurotransmitter:sodium symporter activity	g.chr19:49812329G>T	AF265578	CCDS42590.1	19q13.33	2013-05-22			ENSG00000063127	ENSG00000063127		"Solute carriers"	13622	protein-coding gene	gene with protein product	"NTT5 protein"	607972	"solute carrier family 6 (neurotransmitter transporter), member 16"			10471414, 11112352	Standard	XM_005258820		Approved	NTT5	uc002pmz.3	Q9GZN6		ENST00000335875.4:c.1033C>A	19.37:g.49812329G>T	ENSP00000338627:p.Gln345Lys					SLC6A16_ENST00000335875.4_Missense_Mutation_p.Q345K	p.Q345K			Q9GZN6	S6A16_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00099)|GBM - Glioblastoma multiforme(486;0.0336)	7	1234	-		all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)	345					Q8IYV4|Q9Y5I9	Missense_Mutation	SNP	ENST00000335875.4	37	c.1033C>A	CCDS42590.1	.	.	.	.	.	.	.	.	.	.	G	18.44	3.624175	0.66901	.	.	ENSG00000063127	ENST00000335875;ENST00000454748	D;D	0.81579	-1.51;-1.51	4.38	3.34	0.38264	.	0.323046	0.32970	N	0.005423	D	0.91540	0.7328	H	0.96175	3.78	0.37241	D	0.906133	D;D	0.67145	0.996;0.996	D;D	0.68765	0.96;0.96	D	0.94125	0.7383	10	0.87932	D	0	.	10.9912	0.47551	0.0928:0.0:0.9072:0.0	.	345;345	Q8IYV4;Q9GZN6	.;S6A16_HUMAN	K	345	ENSP00000338627:Q345K;ENSP00000404022:Q345K	ENSP00000338627:Q345K	Q	-	1	0	SLC6A16	54504141	1.000000	0.71417	0.004000	0.12327	0.002000	0.02628	5.199000	0.65152	1.444000	0.47605	0.561000	0.74099	CAA		0.483	SLC6A16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465503.2	NM_014037		8	279	1	0	3.09899e-07	1	3.19013e-07	8	279					T	49812329	G	T	49812329	3	4	64	1	0	0	0	0	1	0	0	0	14679	1299	45	5	1201	5	SLC6A16	19	49812329	Missense_Mutation	SNP	G	TCGA-EJ-5516-01A-01D-1576-08	44355542	49812329	9316654	46	3279											
KIF3B	9371	broad.mit.edu	37	chr20	30898587	30898587	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cactctgcgatatgccaaccGtgccaaaaacattaagaaca	16	7	6	12	2	1	1	0	0	1	1	1	2	1	1	3	0	6	0	3	0	6	2			TCGA-EJ-5516-01A-01D-1576-08	TCGA-EJ-5516-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dbdfe2-f446-463e-847c-885759682c43	b4bf3137-c8ca-4491-bbfc-3d864e521faf	g.chr20:30898587G>A	ENST00000375712.3	+	2	1174	c.1007G>A	c.(1006-1008)cGt>cAt	p.R336H	KIF3B_ENST00000418717.2_Missense_Mutation_p.R24H	NM_004798.3	NP_004789.1	O15066	KIF3B_HUMAN	kinesin family member 3B	336	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				anterograde axon cargo transport (GO:0008089)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cytoskeleton-dependent intracellular transport (GO:0030705)|determination of left/right symmetry (GO:0007368)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic centrosome separation (GO:0007100)|mitotic spindle organization (GO:0007052)|plus-end-directed vesicle transport along microtubule (GO:0072383)|spindle assembly involved in mitosis (GO:0090307)	centrosome (GO:0005813)|cilium (GO:0005929)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intraciliary transport particle (GO:0030990)|kinesin II complex (GO:0016939)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|midbody (GO:0030496)|plus-end kinesin complex (GO:0005873)|spindle (GO:0005819)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)|Rho GTPase binding (GO:0017048)	p.R336H(2)		NS(2)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(5)|lung(9)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	36			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			TATGCCAACCGTGCCAAAAAC	0.532																																						ENST00000375712.3																			2	Substitution - Missense(2)	p.R336H(2)	prostate(1)|lung(1)	NS(2)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(5)|lung(9)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	36						c.(1006-1008)cGt>cAt		kinesin family member 3B							76	62	67					20																	30898587		2203	4300	6503	SO:0001583	missense	9371				anterograde axon cargo transport|blood coagulation|determination of left/right symmetry|mitotic centrosome separation|plus-end-directed vesicle transport along microtubule|spindle assembly involved in mitosis	centrosome|cytosol|kinesin II complex|plus-end kinesin complex|spindle microtubule	ATP binding|plus-end-directed microtubule motor activity|Rho GTPase binding	g.chr20:30898587G>A	AB002357	CCDS13200.1	20q11.21	2012-08-01			ENSG00000101350	ENSG00000101350		"Kinesins"	6320	protein-coding gene	gene with protein product		603754				9205841	Standard	NM_004798		Approved	KIAA0359, FLA8, KLP-11	uc002wxq.3	O15066	OTTHUMG00000032214	ENST00000375712.3:c.1007G>A	20.37:g.30898587G>A	ENSP00000364864:p.Arg336His					KIF3B_ENST00000418717.2_Missense_Mutation_p.R24H	p.R336H	NM_004798.3	NP_004789.1	O15066	KIF3B_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)		2	1174	+			336			Kinesin-motor.		B2RMP4|B4DSR5|E1P5M5	Missense_Mutation	SNP	ENST00000375712.3	37	c.1007G>A	CCDS13200.1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.449843	0.84101	.	.	ENSG00000101350	ENST00000375712;ENST00000418717	T;T	0.78595	-1.19;-1.02	4.68	4.68	0.58851	Kinesin, motor domain (3);	0.000000	0.85682	D	0.000000	D	0.93220	0.7840	H	0.98754	4.32	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.998;1.0	D	0.96111	0.9077	10	0.87932	D	0	.	17.7824	0.88528	0.0:0.0:1.0:0.0	.	24;336;336	B4DSR5;B4DYF2;O15066	.;.;KIF3B_HUMAN	H	336;24	ENSP00000364864:R336H;ENSP00000406287:R24H	ENSP00000364864:R336H	R	+	2	0	KIF3B	30362248	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.657000	0.98554	2.433000	0.82419	0.462000	0.41574	CGT		0.532	KIF3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078619.1	NM_004798		12	91	0	0	0	1	0	12	91					A	30898587	G	A	30898587	3	1	64	1	0	0	0	0	1	0	0	0	8301	1145	40	1	1009	1	KIF3B	20	30898587	Missense_Mutation	SNP	G	TCGA-EJ-5516-01A-01D-1576-08		30898587	32126933	47	3280											
COL9A3	1299	broad.mit.edu	37	chr20	61471946	61471946	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggccaggacggtgctcccggCgagcctgggcctcccggaga	5	4	17	15	4	0	1	0	0	0	1	2	4	2	2	5	6	2	1	5	6	0	0			TCGA-EJ-5516-01A-01D-1576-08	TCGA-EJ-5516-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dbdfe2-f446-463e-847c-885759682c43	b4bf3137-c8ca-4491-bbfc-3d864e521faf	g.chr20:61471946C>T	ENST00000343916.3	+	32	1920	c.1917C>T	c.(1915-1917)ggC>ggT	p.G639G	COL9A3_ENST00000462700.1_3'UTR	NM_001853.3	NP_001844.3	Q14050	CO9A3_HUMAN	collagen, type IX, alpha 3	639	Triple-helical region 1 (COL1).				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|female gonad development (GO:0008585)|male gonad development (GO:0008584)	collagen type IX trimer (GO:0005594)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)	p.G639G(1)		breast(1)|endometrium(3)|large_intestine(1)|lung(18)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	28	Breast(26;5.68e-08)					GTGCTCCCGGCGAGCCTGGGC	0.672																																						ENST00000343916.3																			1	Substitution - coding silent(1)	p.G639G(1)	prostate(1)	breast(1)|endometrium(3)|large_intestine(1)|lung(18)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						c.(1915-1917)ggC>ggT		collagen, type IX, alpha 3							26	31	29					20																	61471946		2203	4299	6502	SO:0001819	synonymous_variant	1299				axon guidance	collagen type IX		g.chr20:61471946C>T	AK075240	CCDS13505.1	20q13.3	2013-01-16			ENSG00000092758	ENSG00000092758		"Proteoglycans / Extracellular Matrix : Collagen proteoglycans", "Collagens"	2219	protein-coding gene	gene with protein product	"collagen type IX proteoglycan"	120270				8586434, 1429648	Standard	NM_001853		Approved	IDD, MED, EDM3, FLJ90759, DJ885L7.4.1	uc002ydm.3	Q14050	OTTHUMG00000032938	ENST00000343916.3:c.1917C>T	20.37:g.61471946C>T						COL9A3_ENST00000462700.1_3'UTR	p.G639G	NM_001853.3	NP_001844.3	Q14050	CO9A3_HUMAN			32	1920	+	Breast(26;5.68e-08)		639			Triple-helical region 1 (COL1).		Q13681|Q9H4G9|Q9UPE2	Silent	SNP	ENST00000343916.3	37	c.1917C>T	CCDS13505.1																																																																																				0.672	COL9A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080071.2	NM_001853		5	56	0	0	0	1	0	5	56					T	61471946	C	T	61471946	2	4	64	1	0	0	0	0	0	0	0	1	3709	755	27	1		1	COL9A3	20	61471946	Silent	SNP	C	TCGA-EJ-5516-01A-01D-1576-08	30573359	61471946	1553574	48	3281											
SYNJ1	8867	broad.mit.edu	37	chr21	34066614	34066614	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aagaaactgagtcatctaagTacacaacctacagaaaaaaa	22	6	5	8	0	2	3	1	1	1	2	2	3	2	3	1	0	4	1	1	0	9	3			TCGA-EJ-5516-01A-01D-1576-08	TCGA-EJ-5516-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dbdfe2-f446-463e-847c-885759682c43	b4bf3137-c8ca-4491-bbfc-3d864e521faf	g.chr21:34066614T>A	ENST00000322229.7	-	5	712	c.713A>T	c.(712-714)tAc>tTc	p.Y238F	SYNJ1_ENST00000382491.3_Missense_Mutation_p.Y238F|SYNJ1_ENST00000382499.2_Missense_Mutation_p.Y277F|SYNJ1_ENST00000433931.2_Missense_Mutation_p.Y277F|SYNJ1_ENST00000357345.3_Missense_Mutation_p.Y238F			O43426	SYNJ1_HUMAN	synaptojanin 1	238	SAC. {ECO:0000255|PROSITE- ProRule:PRU00183}.				cell death (GO:0008219)|inositol phosphate metabolic process (GO:0043647)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|positive regulation of synaptic vesicle uncoating (GO:1903390)|regulation of synaptic vesicle membrane organization (GO:1901632)|small molecule metabolic process (GO:0044281)|synaptic vesicle endocytosis (GO:0048488)	cytosol (GO:0005829)	inositol-polyphosphate 5-phosphatase activity (GO:0004445)|nucleotide binding (GO:0000166)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)|RNA binding (GO:0003723)			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|lung(11)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	57						GTCATCTAAGTACACAACCTA	0.323																																						ENST00000382499.2																			0				breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|lung(11)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	57						c.(829-831)tAc>tTc		synaptojanin 1							58	56	56					21																	34066614		2203	4300	6503	SO:0001583	missense	8867						inositol-polyphosphate 5-phosphatase activity|nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding	g.chr21:34066614T>A	AF009040	CCDS33539.1, CCDS33540.1, CCDS33539.2, CCDS33540.2, CCDS54483.1	21q22.2	2008-06-23			ENSG00000159082	ENSG00000159082			11503	protein-coding gene	gene with protein product		604297				9428629, 10773674	Standard	NM_203446		Approved	INPP5G	uc002yqh.2	O43426	OTTHUMG00000064926	ENST00000322229.7:c.713A>T	21.37:g.34066614T>A	ENSP00000322234:p.Tyr238Phe					SYNJ1_ENST00000433931.2_Missense_Mutation_p.Y277F|SYNJ1_ENST00000357345.3_Missense_Mutation_p.Y238F|SYNJ1_ENST00000322229.7_Missense_Mutation_p.Y238F|SYNJ1_ENST00000382491.3_Missense_Mutation_p.Y238F	p.Y277F	NM_203446.2	NP_982271.2	O43426	SYNJ1_HUMAN			6	829	-			238			SAC.		O43425|O94984|Q4KMR1	Missense_Mutation	SNP	ENST00000322229.7	37	c.830A>T	CCDS54484.1	.	.	.	.	.	.	.	.	.	.	T	14.01	2.407439	0.42715	.	.	ENSG00000159082	ENST00000382491;ENST00000357345;ENST00000382499;ENST00000433931;ENST00000322229;ENST00000429236	T;T;T;T;T;T	0.57436	0.4;0.4;0.4;0.4;0.4;0.4	5.87	4.66	0.58398	Synaptojanin, N-terminal (2);	0.104578	0.64402	D	0.000002	T	0.37100	0.0991	N	0.25245	0.725	0.51012	D	0.999909	B;B;B;B;B	0.11235	0.001;0.002;0.004;0.002;0.001	B;B;B;B;B	0.17979	0.015;0.02;0.019;0.02;0.004	T	0.17319	-1.0373	10	0.30854	T	0.27	.	10.7292	0.46087	0.2375:0.0:0.0:0.7625	.	238;277;238;238;238	B9EGN3;C9JFZ1;O43426-2;O43426;O43426-4	.;.;.;SYNJ1_HUMAN;.	F	238;238;277;277;238;238	ENSP00000371931:Y238F;ENSP00000349903:Y238F;ENSP00000371939:Y277F;ENSP00000409667:Y277F;ENSP00000322234:Y238F;ENSP00000413649:Y238F	ENSP00000322234:Y238F	Y	-	2	0	SYNJ1	32988485	1.000000	0.71417	0.998000	0.56505	0.902000	0.53008	2.151000	0.42263	2.243000	0.73865	0.482000	0.46254	TAC		0.323	SYNJ1-201	KNOWN	basic|CCDS	protein_coding	protein_coding				4	73	0	0	0	1	0	4	73					A	34066614	T	A	34066614	3	1	64	1	0	0	0	0	1	0	0	0	15449	1638	57	5	4150	5	SYNJ1	21	34066614	Missense_Mutation	SNP	T	TCGA-EJ-5516-01A-01D-1576-08		34066614	14063281	49	3282											
CSTB	1476	broad.mit.edu	37	chr21	45194208	45194208	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaagtcctcgtcgccgacgtGcacctgggaagagagcggag	9	5	16	11	5	0	1	0	0	0	1	3	6	1	3	3	2	2	1	3	2	2	0			TCGA-EJ-5516-01A-01D-1576-08	TCGA-EJ-5516-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dbdfe2-f446-463e-847c-885759682c43	b4bf3137-c8ca-4491-bbfc-3d864e521faf	g.chr21:45194208G>A	ENST00000291568.5	-	3	347	c.172C>T	c.(172-174)Cac>Tac	p.H58Y		NM_000100.3	NP_000091.1	P04080	CYTB_HUMAN	cystatin B (stefin B)	58					adult locomotory behavior (GO:0008344)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of peptidase activity (GO:0010466)|negative regulation of proteolysis (GO:0045861)|regulation of apoptotic process (GO:0042981)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)	cysteine-type endopeptidase inhibitor activity (GO:0004869)|endopeptidase inhibitor activity (GO:0004866)|poly(A) RNA binding (GO:0044822)|protease binding (GO:0002020)	p.H58Y(1)		lung(1)|prostate(1)	2				STAD - Stomach adenocarcinoma(101;0.168)		TCGCCGACGTGCACCTGGGAA	0.537																																					Esophageal Squamous(58;831 1093 17019 29789 35147)	ENST00000291568.5																			1	Substitution - Missense(1)	p.H58Y(1)	prostate(1)	lung(1)|prostate(1)	2						c.(172-174)Cac>Tac		cystatin B (stefin B)							140	127	131					21																	45194208		2203	4300	6503	SO:0001583	missense	1476					cytoplasm|nucleolus	cysteine-type endopeptidase inhibitor activity|protease binding	g.chr21:45194208G>A	L03558	CCDS13701.1	21q22.3	2014-09-17			ENSG00000160213	ENSG00000160213			2482	protein-coding gene	gene with protein product		601145		EPM1, STFB		8596935	Standard	NM_000100		Approved	CST6, PME	uc002zdr.4	P04080	OTTHUMG00000086886	ENST00000291568.5:c.172C>T	21.37:g.45194208G>A	ENSP00000291568:p.His58Tyr						p.H58Y	NM_000100.3	NP_000091.1	P04080	CYTB_HUMAN		STAD - Stomach adenocarcinoma(101;0.168)	3	347	-			58						Missense_Mutation	SNP	ENST00000291568.5	37	c.172C>T	CCDS13701.1	.	.	.	.	.	.	.	.	.	.	G	16.18	3.050887	0.55218	.	.	ENSG00000160213	ENST00000291568	T	0.26373	1.74	5.2	4.3	0.51218	Proteinase inhibitor I25, cystatin, conserved site (1);Proteinase inhibitor I25, cystatin (2);	0.161484	0.56097	D	0.000039	T	0.35624	0.0938	.	.	.	0.80722	D	1	D	0.53462	0.96	P	0.51266	0.664	T	0.10222	-1.0639	9	0.49607	T	0.09	-21.3388	11.1999	0.48734	0.0:0.2385:0.7615:0.0	.	58	P04080	CYTB_HUMAN	Y	58	ENSP00000291568:H58Y	ENSP00000291568:H58Y	H	-	1	0	CSTB	44018636	0.968000	0.33430	0.064000	0.19789	0.025000	0.11179	3.369000	0.52365	1.113000	0.41760	0.561000	0.74099	CAC		0.537	CSTB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195689.1	NM_000100		21	118	0	0	0	1	0	21	118					A	45194208	G	A	45194208	3	1	64	1	0	0	0	0	1	0	0	0	3982	1319	46	3	128	3	CSTB	21	45194208	Missense_Mutation	SNP	G	TCGA-EJ-5516-01A-01D-1576-08	11127594	45194208	2935687	50	3283											
CPT1B	1375	broad.mit.edu	37	chr22	51008809	51008809	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gattgggggatctggctggtGgagagacgccagggttccga	7	8	19	7	2	1	1	0	0	1	1	2	6	2	3	2	6	0	2	2	6	0	2			TCGA-EJ-5516-01A-01D-1576-08	TCGA-EJ-5516-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dbdfe2-f446-463e-847c-885759682c43	b4bf3137-c8ca-4491-bbfc-3d864e521faf	g.chr22:51008809G>A	ENST00000360719.2	-	17	2192	c.2055C>T	c.(2053-2055)tcC>tcT	p.S685S	CPT1B_ENST00000457250.1_Silent_p.S651S|CPT1B_ENST00000312108.7_Silent_p.S685S|CPT1B_ENST00000405237.3_Silent_p.S685S|CPT1B_ENST00000395650.2_Silent_p.S685S|CPT1B_ENST00000434492.2_Silent_p.S480S|CPT1B_ENST00000440709.1_Silent_p.S604S|CHKB-CPT1B_ENST00000453634.1_3'UTR	NM_001145135.1|NM_152245.2	NP_001138607.1|NP_689451.1	Q92523	CPT1B_HUMAN	carnitine palmitoyltransferase 1B (muscle)	685					carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	carnitine O-palmitoyltransferase activity (GO:0004095)	p.S685S(1)		central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		all cancers(3;3.56e-77)|OV - Ovarian serous cystadenocarcinoma(4;5.39e-74)|Epithelial(4;5.58e-70)|GBM - Glioblastoma multiforme(4;5.59e-08)|LUAD - Lung adenocarcinoma(64;0.0016)|Lung(4;0.00942)|BRCA - Breast invasive adenocarcinoma(115;0.207)		TCTGGCTGGTGGAGAGACGCC	0.617																																					Esophageal Squamous(170;988 1933 25577 30295 48163)	ENST00000360719.2																			1	Substitution - coding silent(1)	p.S685S(1)	prostate(1)	central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						c.(2053-2055)tcC>tcT		carnitine palmitoyltransferase 1B (muscle)							95	80	85					22																	51008809		2203	4300	6503	SO:0001819	synonymous_variant	1375				carnitine shuttle|fatty acid beta-oxidation|regulation of fatty acid oxidation	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity	g.chr22:51008809G>A	U62733	CCDS14098.1, CCDS46734.1	22q13.33	2007-07-26			ENSG00000205560	ENSG00000205560			2329	protein-coding gene	gene with protein product		601987				9070950	Standard	NM_152245		Approved	M-CPT1, CPT1-M	uc003bmm.3	Q92523	OTTHUMG00000137390	ENST00000360719.2:c.2055C>T	22.37:g.51008809G>A						CHKB-CPT1B_ENST00000453634.1_3'UTR|CPT1B_ENST00000405237.3_Silent_p.S685S|CPT1B_ENST00000440709.1_Silent_p.S604S|CPT1B_ENST00000434492.2_Silent_p.S480S|CPT1B_ENST00000312108.7_Silent_p.S685S|CPT1B_ENST00000395650.2_Silent_p.S685S|CPT1B_ENST00000457250.1_Silent_p.S651S	p.S685S	NM_001145135.1|NM_152245.2	NP_001138607.1|NP_689451.1	Q92523	CPT1B_HUMAN		all cancers(3;3.56e-77)|OV - Ovarian serous cystadenocarcinoma(4;5.39e-74)|Epithelial(4;5.58e-70)|GBM - Glioblastoma multiforme(4;5.59e-08)|LUAD - Lung adenocarcinoma(64;0.0016)|Lung(4;0.00942)|BRCA - Breast invasive adenocarcinoma(115;0.207)	17	2192	-		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)	685					B7Z4U4|B7Z5T8|E9PCP2|Q13389|Q99655|Q9BY90	Silent	SNP	ENST00000360719.2	37	c.2055C>T	CCDS14098.1																																																																																				0.617	CPT1B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317264.5	NM_152246		8	116	0	0	0	1	0	8	116					A	51008809	G	A	51008809	2	1	64	1	0	0	0	0	0	0	0	1	3832	1335	47	3		3	CPT1B	22	51008809	Silent	SNP	G	TCGA-EJ-5516-01A-01D-1576-08		51008809	295757	51	3284											
FAM47C	442444	broad.mit.edu	37	chrX	37028425	37028425	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtctccgcccggagcctcccAatactggagtgtcccatctc	6	9	9	17	2	2	0	0	0	2	0	6	2	4	2	5	2	2	0	5	2	2	1	rs145580328		TCGA-EJ-5516-01A-01D-1576-08	TCGA-EJ-5516-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dbdfe2-f446-463e-847c-885759682c43	b4bf3137-c8ca-4491-bbfc-3d864e521faf	g.chrX:37028425A>G	ENST00000358047.3	+	1	1994	c.1942A>G	c.(1942-1944)Aat>Gat	p.N648D		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	648								p.N648D(7)		breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						GGAGCCTCCCAATACTGGAGT	0.642																																						ENST00000358047.3																			7	Substitution - Missense(7)	p.N648D(7)	urinary_tract(2)|prostate(2)|lung(2)|skin(1)	breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						c.(1942-1944)Aat>Gat		family with sequence similarity 47, member C							51	56	55					X																	37028425		2201	4299	6500	SO:0001583	missense	442444							g.chrX:37028425A>G	AK125992	CCDS35227.1	Xp21.1	2006-07-04			ENSG00000198173	ENSG00000198173			25301	protein-coding gene	gene with protein product							Standard	NM_001013736		Approved		uc004ddl.2	Q5HY64	OTTHUMG00000024025	ENST00000358047.3:c.1942A>G	X.37:g.37028425A>G	ENSP00000367913:p.Asn648Asp						p.N648D	NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN			1	1994	+			648					Q6ZU46	Missense_Mutation	SNP	ENST00000358047.3	37	c.1942A>G	CCDS35227.1	.	.	.	.	.	.	.	.	.	.	-	3.343	-0.134139	0.06711	.	.	ENSG00000198173	ENST00000358047	T	0.13196	2.61	1.61	-3.22	0.05125	.	.	.	.	.	T	0.04543	0.0124	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.38993	-0.9635	9	0.20519	T	0.43	.	0.6811	0.00875	0.2356:0.2078:0.3498:0.2069	.	648	Q5HY64	FA47C_HUMAN	D	648	ENSP00000367913:N648D	ENSP00000367913:N648D	N	+	1	0	FAM47C	36938346	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.937000	0.01547	-1.437000	0.01967	-1.178000	0.01721	AAT		0.642	FAM47C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060508.1	NM_001013736		4	69	0	0	0	1	0	4	69					G	37028425	A	G	37028425	3	3	64	1	0	0	0	0	1	0	0	0	5571	130	5	4	1944	4	FAM47C	23	37028425	Missense_Mutation	SNP	A	TCGA-EJ-5516-01A-01D-1576-08		37028425	118242135	52	3285											
VSIG4	11326	broad.mit.edu	37	chrX	65252421	65252421	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cgcaggcttgaagagtaaggTacttagggttgctactttga	10	12	13	6	1	0	3	0	2	0	1	0	3	0	3	0	3	3	6	0	3	5	7			TCGA-EJ-5516-01A-01D-1576-08	TCGA-EJ-5516-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dbdfe2-f446-463e-847c-885759682c43	b4bf3137-c8ca-4491-bbfc-3d864e521faf	g.chrX:65252421T>C	ENST00000374737.4	-	3	691	c.583A>G	c.(583-585)Acc>Gcc	p.T195A	VSIG4_ENST00000412866.2_Intron|VSIG4_ENST00000455586.2_Missense_Mutation_p.T195A	NM_001257403.1|NM_007268.2	NP_001244332.1|NP_009199.1	Q9Y279	VSIG4_HUMAN	V-set and immunoglobulin domain containing 4	195	Ig-like 2.				complement activation, alternative pathway (GO:0006957)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of T cell proliferation (GO:0042130)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)		p.T195A(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						AAGAGTAAGGTACTTAGGGTT	0.498																																						ENST00000455586.2																			1	Substitution - Missense(1)	p.T195A(1)	prostate(1)	breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(583-585)Acc>Gcc		V-set and immunoglobulin domain containing 4							193	162	172					X																	65252421		2203	4300	6503	SO:0001583	missense	11326				complement activation, alternative pathway	integral to membrane	protein binding	g.chrX:65252421T>C	AJ132502	CCDS14383.1, CCDS48132.1, CCDS55435.1	Xq12-q13.3	2013-01-29			ENSG00000155659	ENSG00000155659		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	17032	protein-coding gene	gene with protein product		300353				10899594, 11004523, 17016555, 17016562	Standard	NM_007268		Approved	Z39IG	uc004dwh.2	Q9Y279	OTTHUMG00000021727	ENST00000374737.4:c.583A>G	X.37:g.65252421T>C	ENSP00000363869:p.Thr195Ala					VSIG4_ENST00000412866.2_Intron|VSIG4_ENST00000374737.4_Missense_Mutation_p.T195A	p.T195A	NM_001184830.1	NP_001171759.1	Q9Y279	VSIG4_HUMAN			3	709	-			195			Ig-like 2.		Q6UXI4	Missense_Mutation	SNP	ENST00000374737.4	37	c.583A>G	CCDS14383.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	7.778|7.778	0.708802|0.708802	0.15239|0.15239	.|.	.|.	ENSG00000155659|ENSG00000155659	ENST00000374737;ENST00000455586;ENST00000423830|ENST00000427538	T;T;T|.	0.03772|.	3.81;3.81;3.81|.	4.04|4.04	1.65|1.65	0.23941|0.23941	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);|.	0.727143|.	0.12251|.	N|.	0.485577|.	T|T	0.40372|0.40372	0.1114|0.1114	L|L	0.58101|0.58101	1.795|1.795	0.09310|0.09310	N|N	1|1	P;P;B;D|.	0.57571|.	0.75;0.789;0.407;0.98|.	B;P;B;P|.	0.56474|.	0.396;0.608;0.325;0.799|.	T|T	0.30534|0.30534	-0.9975|-0.9975	10|5	0.40728|.	T|.	0.16|.	-0.7344|-0.7344	4.6683|4.6683	0.12676|0.12676	0.0:0.279:0.0:0.721|0.0:0.279:0.0:0.721	.|.	195;118;185;195|.	Q9Y279-2;C9JTJ4;C9JH67;Q9Y279|.	.;.;.;VSIG4_HUMAN|.	A|C	195;195;118|121	ENSP00000363869:T195A;ENSP00000411581:T195A;ENSP00000414594:T118A|.	ENSP00000363869:T195A|.	T|Y	-|-	1|2	0|0	VSIG4|VSIG4	65169146|65169146	0.055000|0.055000	0.20627|0.20627	0.016000|0.016000	0.15963|0.15963	0.024000|0.024000	0.10985|0.10985	0.982000|0.982000	0.29539|0.29539	0.331000|0.331000	0.23511|0.23511	0.481000|0.481000	0.45027|0.45027	ACC|TAC		0.498	VSIG4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056986.1	NM_007268		6	66	0	0	0	1	0	6	66					C	65252421	T	C	65252421	3	2	64	1	0	0	0	0	1	0	0	0	17222	1638	57	4	644	4	VSIG4	23	65252421	Missense_Mutation	SNP	T	TCGA-EJ-5516-01A-01D-1576-08	28223996	65252421	90018139	53	3286											
MAMLD1	10046	broad.mit.edu	37	chrX	149671652	149671652	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggagtgagtccttcctgcccGgcagctcctttgctcatgag	5	11	12	13	1	1	2	1	2	0	0	4	3	4	3	4	2	3	3	4	2	0	2			TCGA-EJ-5516-01A-01D-1576-08	TCGA-EJ-5516-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dbdfe2-f446-463e-847c-885759682c43	b4bf3137-c8ca-4491-bbfc-3d864e521faf	g.chrX:149671652G>A	ENST00000370401.2	+	6	2459	c.2149G>A	c.(2149-2151)Ggc>Agc	p.G717S	MAMLD1_ENST00000262858.5_Missense_Mutation_p.G717S|MAMLD1_ENST00000432680.2_Intron|MAMLD1_ENST00000426613.2_Missense_Mutation_p.G692S|MAMLD1_ENST00000455522.2_Missense_Mutation_p.G157S			Q13495	MAMD1_HUMAN	mastermind-like domain containing 1	717					male gonad development (GO:0008584)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)		p.G717S(1)|p.G644S(1)		breast(1)|endometrium(4)|kidney(3)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)	37	Acute lymphoblastic leukemia(192;6.56e-05)					CTTCCTGCCCGGCAGCTCCTT	0.677													G|||	1	0.000264901	0	0	3775	,	,		12904	0		0	False		,,,				2504	0.001					ENST00000370401.2																			2	Substitution - Missense(2)	p.G717S(1)|p.G644S(1)	prostate(2)	breast(1)|endometrium(4)|kidney(3)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)	37						c.(2149-2151)Ggc>Agc		mastermind-like domain containing 1							62	60	61					X																	149671652		2203	4300	6503	SO:0001583	missense	10046				male gonad development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chrX:149671652G>A	U46023	CCDS14693.2, CCDS55525.1, CCDS55526.1	Xq28	2008-02-05	2008-01-03	2008-01-03	ENSG00000013619	ENSG00000013619			2568	protein-coding gene	gene with protein product		300120	"chromosome X open reading frame 6"	CXorf6		9169146, 17086185, 18162467	Standard	NM_001177465		Approved	CG1, F18	uc011mxu.2	Q13495	OTTHUMG00000024157	ENST00000370401.2:c.2149G>A	X.37:g.149671652G>A	ENSP00000359428:p.Gly717Ser					MAMLD1_ENST00000432680.2_Intron|MAMLD1_ENST00000262858.5_Missense_Mutation_p.G717S|MAMLD1_ENST00000455522.2_Missense_Mutation_p.G157S|MAMLD1_ENST00000426613.2_Missense_Mutation_p.G692S	p.G717S			Q13495	MAMD1_HUMAN			6	2459	+	Acute lymphoblastic leukemia(192;6.56e-05)		717					B2RCQ4|B4DG93|B9EGA5	Missense_Mutation	SNP	ENST00000370401.2	37	c.2149G>A	CCDS14693.2	.	.	.	.	.	.	.	.	.	.	G	7.711	0.695227	0.15039	.	.	ENSG00000013619	ENST00000445612;ENST00000370401;ENST00000262858;ENST00000426613;ENST00000455522	T;T;T;T	0.67698	-0.28;-0.28;-0.27;0.04	3.27	-3.55	0.04639	.	0.738104	0.11939	N	0.514933	T	0.42291	0.1196	N	0.13043	0.29	0.26132	N	0.980405	B;B;B	0.29037	0.231;0.131;0.131	B;B;B	0.20577	0.022;0.03;0.03	T	0.08186	-1.0734	10	0.29301	T	0.29	.	10.7232	0.46052	0.6055:0.0:0.3945:0.0	.	589;692;717	F6WVG1;Q13495-4;Q13495	.;.;MAMD1_HUMAN	S	589;717;717;692;157	ENSP00000359428:G717S;ENSP00000262858:G717S;ENSP00000397438:G692S;ENSP00000389106:G157S	ENSP00000262858:G717S	G	+	1	0	MAMLD1	149422310	0.639000	0.27234	0.833000	0.33012	0.961000	0.63080	-0.967000	0.03821	-1.698000	0.01418	-1.357000	0.01221	GGC		0.677	MAMLD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000060844.2	NM_005491		34	79	0	0	0	1	0	34	79					A	149671652	G	A	149671652	3	1	64	1	0	0	0	0	1	0	0	0	9208	1116	39	2	2167	2	MAMLD1	23	149671652	Missense_Mutation	SNP	G	TCGA-EJ-5516-01A-01D-1576-08	84419231	149671652	5598908	54	3287											
INADL	10207	broad.mit.edu	37	chr1	62614008	62614008	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agctcagcttgaaaacatgtCtacaggctaccaccttggtt	11	11	8	11	0	2	1	1	1	1	0	2	1	2	1	2	2	5	4	2	2	4	5			TCGA-EJ-5517-01A-01D-1576-08	TCGA-EJ-5517-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	087a7f17-690b-460f-a9ce-ab90d316a64c	3a863bfc-2b84-4a57-8049-f41ebba5ab1c	g.chr1:62614008C>G	ENST00000371158.2	+	42	5438	c.5324C>G	c.(5323-5325)tCt>tGt	p.S1775C		NM_176877.2	NP_795352	Q8NI35	INADL_HUMAN	InaD-like (Drosophila)	1775					cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|intracellular signal transduction (GO:0035556)|tight junction assembly (GO:0070830)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|tight junction (GO:0005923)		p.S1775C(1)		breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)	103						GAAAACATGTCTACAGGCTAC	0.448																																						ENST00000371158.2																			1	Substitution - Missense(1)	p.S1775C(1)	prostate(1)	breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)	103						c.(5323-5325)tCt>tGt		InaD-like (Drosophila)							149	141	144					1																	62614008		1904	4128	6032	SO:0001583	missense	10207				intracellular signal transduction|tight junction assembly	apical plasma membrane|perinuclear region of cytoplasm|tight junction	protein binding	g.chr1:62614008C>G	AB044807	CCDS617.2	1p31	2008-02-05			ENSG00000132849	ENSG00000132849			28881	protein-coding gene	gene with protein product		603199				9280290, 11374908	Standard	NM_176877		Approved	Cipp, PATJ	uc001dab.3	Q8NI35	OTTHUMG00000008560	ENST00000371158.2:c.5324C>G	1.37:g.62614008C>G	ENSP00000360200:p.Ser1775Cys						p.S1775C	NM_176877.2	NP_795352.2	Q8NI35	INADL_HUMAN			42	5438	+			1775					O15249|O43742|O60833|Q5VUA5|Q5VUA6|Q5VUA7|Q5VUA8|Q5VUA9|Q5VUB0|Q8WU78|Q9H3N9	Missense_Mutation	SNP	ENST00000371158.2	37	c.5324C>G	CCDS617.2	.	.	.	.	.	.	.	.	.	.	C	22.9	4.355986	0.82243	.	.	ENSG00000132849	ENST00000371158	T	0.13901	2.55	5.32	5.32	0.75619	.	0.083086	0.49916	D	0.000126	T	0.29028	0.0721	L	0.32530	0.975	0.80722	D	1	D	0.76494	0.999	D	0.71870	0.975	T	0.02288	-1.1182	10	0.87932	D	0	.	18.9996	0.92828	0.0:1.0:0.0:0.0	.	1775	Q8NI35	INADL_HUMAN	C	1775	ENSP00000360200:S1775C	ENSP00000360200:S1775C	S	+	2	0	INADL	62386596	1.000000	0.71417	0.925000	0.36789	0.927000	0.56198	4.950000	0.63603	2.480000	0.83734	0.561000	0.74099	TCT		0.448	INADL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023639.2	NM_170605		8	301	0	0	0	0.307466	0	8	301					G	62614008	C	G	62614008	3	3	65	1	0	0	0	0	1	0	0	0	7731	913	32	5	5486	5	INADL	1	62614008	Missense_Mutation	SNP	C	TCGA-EJ-5517-01A-01D-1576-08		62614008	186636613	1	3288											
PSRC1	84722	broad.mit.edu	37	chr1	109823645	109823645	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaaggctgtggggccaggaCggatctgatgggggtgggtg	7	7	22	5	1	1	2	0	1	1	1	1	4	1	4	1	8	0	1	1	8	1	0	rs567496428		TCGA-EJ-5517-01A-01D-1576-08	TCGA-EJ-5517-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	087a7f17-690b-460f-a9ce-ab90d316a64c	3a863bfc-2b84-4a57-8049-f41ebba5ab1c	g.chr1:109823645C>T	ENST00000438534.2	-	5	886	c.748G>A	c.(748-750)Gtc>Atc	p.V250I	PSRC1_ENST00000369904.3_Intron|PSRC1_ENST00000409138.2_Missense_Mutation_p.V250I|PSRC1_ENST00000369909.2_Missense_Mutation_p.V220I|PSRC1_ENST00000409267.1_Missense_Mutation_p.V220I|PSRC1_ENST00000369903.2_Missense_Mutation_p.V220I|PSRC1_ENST00000369907.3_Missense_Mutation_p.V220I	NM_001005290.3	NP_001005290.1	Q6PGN9	PSRC1_HUMAN	proline/serine-rich coiled-coil 1	250	Pro/Ser-rich.				microtubule bundle formation (GO:0001578)|mitotic metaphase plate congression (GO:0007080)|negative regulation of cell growth (GO:0030308)|positive regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045737)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of mitotic spindle organization (GO:0060236)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle (GO:0005819)	microtubule binding (GO:0008017)	p.V250I(1)		endometrium(1)|large_intestine(1)|lung(2)|prostate(2)|skin(1)	7		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0286)|Lung(183;0.0658)|COAD - Colon adenocarcinoma(174;0.112)|Epithelial(280;0.188)|all cancers(265;0.213)		GGGGCCAGGACGGATCTGATG	0.612													C|||	1	0.000199681	0	0	5008	,	,		12344	0		0	False		,,,				2504	0.001					ENST00000438534.2																			1	Substitution - Missense(1)	p.V250I(1)	prostate(1)	endometrium(1)|large_intestine(1)|lung(2)|prostate(2)|skin(1)	7						c.(748-750)Gtc>Atc		proline/serine-rich coiled-coil 1							39	44	42					1																	109823645		2203	4300	6503	SO:0001583	missense	84722				cell division|microtubule bundle formation|mitotic metaphase plate congression|negative regulation of cell growth|positive regulation of microtubule polymerization|positive regulation of transcription, DNA-dependent|regulation of mitotic spindle organization	cytosol|midbody|spindle pole	microtubule binding	g.chr1:109823645C>T		CCDS797.1, CCDS30791.1	1p13.3	2008-02-05			ENSG00000134222	ENSG00000134222			24472	protein-coding gene	gene with protein product	"differential display and activated by p53"	613126				12427559, 10618717	Standard	NM_001032291		Approved	DDA3	uc001dxd.3	Q6PGN9	OTTHUMG00000012000	ENST00000438534.2:c.748G>A	1.37:g.109823645C>T	ENSP00000413591:p.Val250Ile					PSRC1_ENST00000369904.3_Intron|PSRC1_ENST00000369907.3_Missense_Mutation_p.V220I|PSRC1_ENST00000369909.2_Missense_Mutation_p.V220I|PSRC1_ENST00000409267.1_Missense_Mutation_p.V220I|PSRC1_ENST00000409138.2_Missense_Mutation_p.V250I|PSRC1_ENST00000369903.2_Missense_Mutation_p.V220I	p.V250I	NM_001005290.3	NP_001005290.1	Q6PGN9	PSRC1_HUMAN		Colorectal(144;0.0286)|Lung(183;0.0658)|COAD - Colon adenocarcinoma(174;0.112)|Epithelial(280;0.188)|all cancers(265;0.213)	5	886	-		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)	250			Pro/Ser-rich.		Q5T2Z3|Q6ZTI8|Q71MG3|Q9BV77	Missense_Mutation	SNP	ENST00000438534.2	37	c.748G>A		.	.	.	.	.	.	.	.	.	.	C	10.44	1.350514	0.24512	.	.	ENSG00000134222	ENST00000409267;ENST00000369907;ENST00000438534;ENST00000369909;ENST00000369903;ENST00000429031	T;T;T;T;T	0.48836	0.82;0.82;0.8;0.82;0.82	5.85	4.93	0.64822	.	0.836177	0.10372	N	0.682669	T	0.12689	0.0308	L	0.27053	0.805	0.09310	N	1	P;P;P	0.42871	0.681;0.681;0.792	B;B;B	0.31245	0.093;0.093;0.126	T	0.02214	-1.1194	10	0.14252	T	0.57	0.215	10.9943	0.47567	0.0:0.9147:0.0:0.0853	.	250;220;220	Q6PGN9;Q6PGN9-2;A8K0M8	PSRC1_HUMAN;.;.	I	220;220;250;220;220;220	ENSP00000386323:V220I;ENSP00000358923:V220I;ENSP00000413591:V250I;ENSP00000358925:V220I;ENSP00000358919:V220I	ENSP00000358919:V220I	V	-	1	0	PSRC1	109625168	0.008000	0.16893	0.031000	0.17742	0.139000	0.21198	1.509000	0.35780	1.620000	0.50308	0.655000	0.94253	GTC		0.612	PSRC1-202	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000335567.3	NM_032636		24	42	0	0	0	0.693898	0	24	42					T	109823645	C	T	109823645	3	4	65	1	0	0	0	0	1	0	0	0	12719	536	19	1	387	1	PSRC1	1	109823645	Missense_Mutation	SNP	C	TCGA-EJ-5517-01A-01D-1576-08	47209637	109823645	139426976	2	3289											
AIM2	9447	broad.mit.edu	37	chr1	159033322	159033322	+	Frame_Shift_Del	DEL	T	T	-																															tcagctgtagtttttctccaTtttttgacagtgtgaagaat																										TCGA-EJ-5517-01A-01D-1576-08	TCGA-EJ-5517-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	087a7f17-690b-460f-a9ce-ab90d316a64c	3a863bfc-2b84-4a57-8049-f41ebba5ab1c	g.chr1:159033322delT	ENST00000368130.4	-	5	1247	c.959delA	c.(958-960)aatfs	p.N320fs	AIM2_ENST00000411768.1_5'Flank	NM_004833.1	NP_004824.1	O14862	AIM2_HUMAN	absent in melanoma 2	320	HIN-200. {ECO:0000255|PROSITE- ProRule:PRU00106}.				activation of innate immune response (GO:0002218)|apoptotic process (GO:0006915)|cellular response to drug (GO:0035690)|cellular response to interferon-beta (GO:0035458)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-1 beta secretion (GO:0050702)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of cysteine-type endopeptidase activity (GO:2001056)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of interleukin-1 beta production (GO:0032731)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein oligomerization (GO:0032461)|pyroptosis (GO:0070269)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	AIM2 inflammasome complex (GO:0097169)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|identical protein binding (GO:0042802)			breast(1)|large_intestine(1)|lung(7)|ovary(2)|pancreas(2)|prostate(2)|skin(1)	16	all_hematologic(112;0.0429)					TTTTTCTCCATTTTTTGACAG	0.408																																						ENST00000368130.4																			0				breast(1)|large_intestine(1)|lung(7)|ovary(2)|pancreas(2)|prostate(2)|skin(1)	16						c.(958-960)atfs		absent in melanoma 2							242	228	233					1																	159033322		2203	4300	6503	SO:0001589	frameshift_variant	9447				cellular response to drug|immune response|interleukin-1 beta secretion	mitochondrion|nucleus		g.chr1:159033322delT	AF024714	CCDS1181.1	1q22	2008-07-18			ENSG00000163568	ENSG00000163568			357	protein-coding gene	gene with protein product		604578				9242382	Standard	NM_004833		Approved	PYHIN4	uc001ftj.1	O14862	OTTHUMG00000037183	ENST00000368130.4:c.959delA	1.37:g.159033322delT	ENSP00000357112:p.Asn320fs					AIM2_ENST00000481829.1_5'UTR	p.N320fs	NM_004833.1	NP_004824.1	O14862	AIM2_HUMAN			5	1247	-	all_hematologic(112;0.0429)		320			HIN-200.		A8K7M7|Q5T3V9|Q96FG9	Frame_Shift_Del	DEL	ENST00000368130.4	37	c.959delA	CCDS1181.1																																																																																				0.408	AIM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090341.1	NM_004833		209	379						209	379	---	---	---	---	-	159033322	T	-	159033322	7	5	65	1	0	1	0	1	0	0	0	0	432	1493	52	0	80	0	AIM2	1	159033322	Frame_Shift_Del	DEL	T	TCGA-EJ-5517-01A-01D-1576-08	49209677	159033322	90217299	3	3290											
TPR	7175	broad.mit.edu	37	chr1	186307316	186307316	+	Frame_Shift_Del	DEL	T	T	-																															ccttttcagttcttactttaTttagatcttccttcagactc																								rs372907804		TCGA-EJ-5517-01A-01D-1576-08	TCGA-EJ-5517-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	087a7f17-690b-460f-a9ce-ab90d316a64c	3a863bfc-2b84-4a57-8049-f41ebba5ab1c	g.chr1:186307316delT	ENST00000367478.4	-	31	4507	c.4211delA	c.(4210-4212)aatfs	p.N1404fs		NM_003292.2	NP_003283.2	P12270	TPR_HUMAN	translocated promoter region, nuclear basket protein	1404					carbohydrate metabolic process (GO:0005975)|cellular response to heat (GO:0034605)|cellular response to interferon-alpha (GO:0035457)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|MAPK import into nucleus (GO:0000189)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope disassembly (GO:0007077)|mitotic spindle assembly checkpoint (GO:0007094)|mRNA export from nucleus in response to heat stress (GO:0031990)|negative regulation of RNA export from nucleus (GO:0046832)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of translational initiation (GO:0045947)|nuclear pore organization (GO:0006999)|positive regulation of heterochromatin assembly (GO:0031453)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090267)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of protein import into nucleus (GO:0042307)|protein import into nucleus (GO:0006606)|regulation of glucose transport (GO:0010827)|regulation of mitotic sister chromatid separation (GO:0010965)|regulation of spindle assembly involved in mitosis (GO:1901673)|response to epidermal growth factor (GO:0070849)|RNA export from nucleus (GO:0006405)|RNA import into nucleus (GO:0006404)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoplasmic dynein complex (GO:0005868)|extrinsic component of membrane (GO:0019898)|kinetochore (GO:0000776)|mitotic spindle (GO:0072686)|nuclear envelope (GO:0005635)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|dynein complex binding (GO:0070840)|heat shock protein binding (GO:0031072)|mitogen-activated protein kinase binding (GO:0051019)|mRNA binding (GO:0003729)|nucleocytoplasmic transporter activity (GO:0005487)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|tubulin binding (GO:0015631)			autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(9)|kidney(12)|large_intestine(23)|liver(1)|lung(45)|ovary(2)|pancreas(1)|prostate(6)|skin(3)|stomach(1)|urinary_tract(8)	123		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)		TCTTACTTTATTTAGATCTTC	0.294			T	NTRK1	papillary thyroid																																	ENST00000367478.3				Dom	yes		1	1q25	7175	T	translocated promoter region			E	NTRK1		papillary thyroid		0				autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(9)|kidney(12)|large_intestine(23)|liver(1)|lung(45)|ovary(2)|pancreas(1)|prostate(6)|skin(3)|stomach(1)|urinary_tract(8)	123						c.(4210-4212)atfs		translocated promoter region, nuclear basket protein							125	111	115					1																	186307316		1814	4070	5884	SO:0001589	frameshift_variant	7175				carbohydrate metabolic process|glucose transport|mitotic cell cycle spindle assembly checkpoint|mRNA transport|protein import into nucleus|regulation of glucose transport|seryl-tRNA aminoacylation|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytoplasm|nuclear membrane|nuclear pore|nucleoplasm	ATP binding|protein binding|serine-tRNA ligase activity	g.chr1:186307316delT	U69668	CCDS41446.1	1q25	2012-03-13	2012-03-13		ENSG00000047410	ENSG00000047410			12017	protein-coding gene	gene with protein product		189940	"translocated promoter region (to activated MET oncogene)"			1611909, 15229283	Standard	NM_003292		Approved		uc001grv.3	P12270	OTTHUMG00000035580	ENST00000367478.4:c.4211delA	1.37:g.186307316delT	ENSP00000356448:p.Asn1404fs						p.N1404fs	NM_003292.2	NP_003283.2	P12270	TPR_HUMAN		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)	31	4507	-		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)	1404					Q15655|Q5SWY0|Q99968	Frame_Shift_Del	DEL	ENST00000367478.4	37	c.4211delA	CCDS41446.1																																																																																				0.294	TPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086353.2	NM_003292		27	195						27	195	---	---	---	---	-	186307316	T	-	186307316	7	5	65	1	0	1	0	1	0	0	0	0	16413	1493	52	0	2964	0	TPR	1	186307316	Frame_Shift_Del	DEL	T	TCGA-EJ-5517-01A-01D-1576-08	27273994	186307316	62943305	4	3291											
TRAF3IP3	80342	broad.mit.edu	37	chr1	209948722	209948722	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cccttggggaatgaaaaaagTactactggagatggaagacc	15	7	12	7	0	0	3	0	1	0	2	0	6	0	5	2	4	2	1	2	4	7	3			TCGA-EJ-5517-01A-01D-1576-08	TCGA-EJ-5517-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	087a7f17-690b-460f-a9ce-ab90d316a64c	3a863bfc-2b84-4a57-8049-f41ebba5ab1c	g.chr1:209948722T>A	ENST00000367024.1	+	10	1319	c.803T>A	c.(802-804)gTa>gAa	p.V268E	TRAF3IP3_ENST00000367025.3_Missense_Mutation_p.V268E|TRAF3IP3_ENST00000477431.1_Missense_Mutation_p.V4E|TRAF3IP3_ENST00000367023.1_Missense_Mutation_p.V4E|TRAF3IP3_ENST00000400959.3_Missense_Mutation_p.V248E|TRAF3IP3_ENST00000367026.3_Missense_Mutation_p.V248E|TRAF3IP3_ENST00000010338.4_Missense_Mutation_p.V248E			Q9Y228	T3JAM_HUMAN	TRAF3 interacting protein 3	268						integral component of membrane (GO:0016021)		p.V248E(1)		breast(2)|endometrium(1)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32				OV - Ovarian serous cystadenocarcinoma(81;0.045)		ATGAAAAAAGTACTACTGGAG	0.428																																						ENST00000367024.1																			1	Substitution - Missense(1)	p.V248E(1)	prostate(1)	breast(2)|endometrium(1)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32						c.(802-804)gTa>gAa		TRAF3 interacting protein 3							54	56	55					1																	209948722		2203	4300	6503	SO:0001583	missense	80342					integral to membrane	protein binding	g.chr1:209948722T>A		CCDS1490.1, CCDS1490.2, CCDS73023.1	1q32.3-q41	2008-02-05			ENSG00000009790	ENSG00000009790			30766	protein-coding gene	gene with protein product	"TRAF3 interacting Jun N terminal kinase (JNK) activating modulator"	608255				14572659	Standard	XR_247044		Approved	T3JAM	uc001hho.3	Q9Y228	OTTHUMG00000036480	ENST00000367024.1:c.803T>A	1.37:g.209948722T>A	ENSP00000355991:p.Val268Glu					TRAF3IP3_ENST00000010338.4_Missense_Mutation_p.V248E|TRAF3IP3_ENST00000477431.1_Missense_Mutation_p.V4E|TRAF3IP3_ENST00000400959.3_Missense_Mutation_p.V248E|TRAF3IP3_ENST00000367023.1_Missense_Mutation_p.V4E|TRAF3IP3_ENST00000367025.3_Missense_Mutation_p.V268E|TRAF3IP3_ENST00000367026.3_Missense_Mutation_p.V248E	p.V268E			Q9Y228	T3JAM_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.045)	10	1319	+			268					A1L464|A6NIU9|Q2YDB5|Q4VY06|Q7Z706	Missense_Mutation	SNP	ENST00000367024.1	37	c.803T>A	CCDS1490.2	.	.	.	.	.	.	.	.	.	.	T	13.44	2.237991	0.39598	.	.	ENSG00000009790	ENST00000400959;ENST00000367025;ENST00000458110;ENST00000367026;ENST00000367024;ENST00000010338;ENST00000367023;ENST00000487271;ENST00000477431	T;T;T;T;T;T;T	0.76968	-1.03;-1.06;-1.06;-1.06;-1.06;1.06;1.05	5.3	4.18	0.49190	.	0.407546	0.22705	N	0.056655	T	0.74943	0.3783	L	0.42245	1.32	0.38319	D	0.943461	P;P;D;P	0.53462	0.804;0.589;0.96;0.944	B;B;P;P	0.50659	0.36;0.288;0.52;0.647	T	0.72776	-0.4191	10	0.30078	T	0.28	-5.6616	9.7964	0.40737	0.0:0.0812:0.0:0.9188	.	268;248;268;248	Q9Y228;Q9Y228-2;Q9Y228-3;E2QRE5	T3JAM_HUMAN;.;.;.	E	248;268;251;248;268;248;4;4;4	ENSP00000383743:V248E;ENSP00000355992:V268E;ENSP00000355993:V248E;ENSP00000355991:V268E;ENSP00000010338:V248E;ENSP00000355990:V4E;ENSP00000417417:V4E	ENSP00000010338:V248E	V	+	2	0	TRAF3IP3	208015345	1.000000	0.71417	0.962000	0.40283	0.952000	0.60782	1.598000	0.36740	0.868000	0.35678	0.460000	0.39030	GTA		0.428	TRAF3IP3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088734.2			10	35	0	0	0	0.38729	0	10	35					A	209948722	T	A	209948722	3	1	65	1	0	0	0	0	1	0	0	0	16439	1638	57	5	833	5	TRAF3IP3	1	209948722	Missense_Mutation	SNP	T	TCGA-EJ-5517-01A-01D-1576-08	23641406	209948722	39301899	5	3292											
OR2M3	127062	broad.mit.edu	37	chr1	248367150	248367150	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cagctttgttcatgtacataCggcccacatctgatcgctcc	8	12	7	14	2	2	1	1	1	1	0	4	1	3	1	2	1	3	4	2	1	2	4	rs147728074		TCGA-EJ-5517-01A-01D-1576-08	TCGA-EJ-5517-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	087a7f17-690b-460f-a9ce-ab90d316a64c	3a863bfc-2b84-4a57-8049-f41ebba5ab1c	g.chr1:248367150C>T	ENST00000456743.1	+	1	819	c.781C>T	c.(781-783)Cgg>Tgg	p.R261W		NM_001004689.1	NP_001004689.1	Q8NG83	OR2M3_HUMAN	olfactory receptor, family 2, subfamily M, member 3	261						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R261W(1)		endometrium(6)|large_intestine(4)|lung(33)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	50	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			CATGTACATACGGCCCACATC	0.502													c|||	1	0.000199681	0	0	5008	,	,		18234	0.001		0	False		,,,				2504	0					ENST00000456743.1																			1	Substitution - Missense(1)	p.R261W(1)	prostate(1)	endometrium(6)|large_intestine(4)|lung(33)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	50						c.(781-783)Cgg>Tgg		olfactory receptor, family 2, subfamily M, member 3		C	TRP/ARG	5,4401	9.9+/-24.2	0,5,2198	201	184	190		781	-5.1	0	1	dbSNP_134	190	1,8599	1.2+/-3.3	0,1,4299	no	missense	OR2M3	NM_001004689.1	101	0,6,6497	TT,TC,CC		0.0116,0.1135,0.0461	benign	261/313	248367150	6,13000	2203	4300	6503	SO:0001583	missense	127062				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248367150C>T		CCDS31107.1	1q44	2012-08-09		2004-03-10	ENSG00000228198	ENSG00000228198		"GPCR / Class A : Olfactory receptors"	8269	protein-coding gene	gene with protein product				OR2M6, OR2M3P			Standard	NM_001004689		Approved	OST003	uc010pzg.2	Q8NG83	OTTHUMG00000040459	ENST00000456743.1:c.781C>T	1.37:g.248367150C>T	ENSP00000389625:p.Arg261Trp						p.R261W	NM_001004689.1	NP_001004689.1	Q8NG83	OR2M3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0245)		1	819	+	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		261					B9EH06|Q6IEY0	Missense_Mutation	SNP	ENST00000456743.1	37	c.781C>T	CCDS31107.1	.	.	.	.	.	.	.	.	.	.	C	6.490	0.458682	0.12342	0.001135	1.16E-4	ENSG00000228198	ENST00000456743	T	0.37915	1.17	2.54	-5.08	0.02929	GPCR, rhodopsin-like superfamily (1);	0.725918	0.10711	U	0.642863	T	0.35422	0.0931	M	0.78285	2.405	0.09310	N	1	B	0.19073	0.033	B	0.25884	0.064	T	0.30001	-0.9993	10	0.44086	T	0.13	.	8.501	0.33159	0.6653:0.2427:0.0:0.092	.	261	Q8NG83	OR2M3_HUMAN	W	261	ENSP00000389625:R261W	ENSP00000389625:R261W	R	+	1	2	OR2M3	246433773	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.842000	0.01681	-1.886000	0.01116	-0.507000	0.04495	CGG		0.502	OR2M3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097355.1	NM_001004689		61	385	0	0	0	0.870114	0	61	385					T	248367150	C	T	248367150	3	4	65	1	0	0	0	0	1	0	0	0	11011	527	19	1	783	1	OR2M3	1	248367150	Missense_Mutation	SNP	C	TCGA-EJ-5517-01A-01D-1576-08	38418428	248367150	883471	6	3293											
PUM2	23369	broad.mit.edu	37	chr2	20490511	20490511	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gctgcccttgctgaccctgaTtgggagtaagaggacgctga	8	9	14	10	1	0	4	0	3	0	1	0	6	0	6	2	2	2	4	2	2	1	3			TCGA-EJ-5517-01A-01D-1576-08	TCGA-EJ-5517-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	087a7f17-690b-460f-a9ce-ab90d316a64c	3a863bfc-2b84-4a57-8049-f41ebba5ab1c	g.chr2:20490511T>C	ENST00000361078.2	-	9	1215	c.1193A>G	c.(1192-1194)aAt>aGt	p.N398S	PUM2_ENST00000319801.5_Missense_Mutation_p.N398S|PUM2_ENST00000536417.1_Missense_Mutation_p.N342S|PUM2_ENST00000403432.1_Missense_Mutation_p.N398S|PUM2_ENST00000338086.5_Missense_Mutation_p.N398S			Q8TB72	PUM2_HUMAN	pumilio RNA-binding family member 2	398	Ala-rich.|Gln-rich.				regulation of translation (GO:0006417)|stress granule assembly (GO:0034063)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|nuclear membrane (GO:0031965)|perinuclear region of cytoplasm (GO:0048471)	poly(A) RNA binding (GO:0044822)	p.N398S(1)		breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(7)|lung(13)|ovary(2)|prostate(4)|urinary_tract(3)	42	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTGACCCTGATTGGGAGTAAG	0.443																																						ENST00000361078.2																			1	Substitution - Missense(1)	p.N398S(1)	prostate(1)	breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(7)|lung(13)|ovary(2)|prostate(4)|urinary_tract(3)	42						c.(1192-1194)aAt>aGt		pumilio RNA-binding family member 2							71	65	67					2																	20490511		2203	4300	6503	SO:0001583	missense	23369				regulation of translation	perinuclear region of cytoplasm|stress granule	protein binding|RNA binding	g.chr2:20490511T>C	AF315591	CCDS1698.1, CCDS74486.1, CCDS74487.1	2p22-p21	2013-09-02	2013-09-02		ENSG00000055917	ENSG00000055917			14958	protein-coding gene	gene with protein product		607205	"pumilio (Drosphila) homolog 2", "pumilio homolog 2 (Drosophila)"			9039502, 12459267, 12511597	Standard	XM_005262607		Approved	PUMH2, KIAA0235	uc002rds.1	Q8TB72	OTTHUMG00000122098	ENST00000361078.2:c.1193A>G	2.37:g.20490511T>C	ENSP00000354370:p.Asn398Ser					PUM2_ENST00000319801.5_Missense_Mutation_p.N398S|PUM2_ENST00000536417.1_Missense_Mutation_p.N342S|PUM2_ENST00000338086.5_Missense_Mutation_p.N398S|PUM2_ENST00000403432.1_Missense_Mutation_p.N398S	p.N398S			Q8TB72	PUM2_HUMAN			9	1215	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		398			Ala-rich.|Gln-rich.		B3KSL0|B4E2B6|D6W527|O00234|Q53TV7|Q8WY43|Q9HAN2	Missense_Mutation	SNP	ENST00000361078.2	37	c.1193A>G		.	.	.	.	.	.	.	.	.	.	T	8.386	0.838525	0.16891	.	.	ENSG00000055917	ENST00000338086;ENST00000361078;ENST00000319801;ENST00000440577;ENST00000403432;ENST00000536417	T;T;T;T;T;T	0.15603	2.41;2.7;2.71;2.44;2.41;2.41	5.26	0.241	0.15494	.	0.239125	0.49916	N	0.000130	T	0.06962	0.0177	N	0.12887	0.27	0.20563	N	0.999886	B;B;B	0.25521	0.009;0.0;0.128	B;B;B	0.25405	0.013;0.0;0.06	T	0.41945	-0.9480	10	0.02654	T	1	-2.4731	10.0847	0.42410	0.0:0.3553:0.0:0.6447	.	342;398;398	B4E2B6;B7ZL34;Q8TB72-3	.;.;.	S	398;398;398;289;398;342	ENSP00000338173:N398S;ENSP00000354370:N398S;ENSP00000326746:N398S;ENSP00000409905:N289S;ENSP00000385992:N398S;ENSP00000440093:N342S	ENSP00000326746:N398S	N	-	2	0	PUM2	20353992	0.985000	0.35326	0.964000	0.40570	0.995000	0.86356	0.522000	0.22909	-0.114000	0.11936	-0.326000	0.08463	AAT		0.443	PUM2-202	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015317		10	123	0	0	0	0.38729	0	10	123					C	20490511	T	C	20490511	3	2	65	1	0	0	0	0	1	0	0	0	12826	1493	52	4	2049	4	PUM2	2	20490511	Missense_Mutation	SNP	T	TCGA-EJ-5517-01A-01D-1576-08		20490511	222708862	7	3294											
EPC2	26122	broad.mit.edu	37	chr2	149526724	149526724	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcctcttttgtctaggtatTgtccccagtatcagaaccgg	7	14	9	11	1	3	1	1	0	2	1	4	1	4	1	4	2	2	2	4	2	4	6			TCGA-EJ-5517-01A-01D-1576-08	TCGA-EJ-5517-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	087a7f17-690b-460f-a9ce-ab90d316a64c	3a863bfc-2b84-4a57-8049-f41ebba5ab1c	g.chr2:149526724T>G	ENST00000258484.6	+	8	1179	c.1145T>G	c.(1144-1146)tTg>tGg	p.L382W		NM_015630.3	NP_056445.3	Q52LR7	EPC2_HUMAN	enhancer of polycomb homolog 2 (Drosophila)	382					chromatin modification (GO:0016568)|DNA repair (GO:0006281)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	Piccolo NuA4 histone acetyltransferase complex (GO:0032777)		p.L382W(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	13				BRCA - Breast invasive adenocarcinoma(221;0.0516)		GTCTAGGTATTGTCCCCAGTA	0.378																																						ENST00000258484.6																			1	Substitution - Missense(1)	p.L382W(1)	prostate(1)	breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	13						c.(1144-1146)tTg>tGg		enhancer of polycomb homolog 2 (Drosophila)							79	77	77					2																	149526724		1856	4104	5960	SO:0001583	missense	26122				chromatin modification|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chr2:149526724T>G	AF286904	CCDS46422.1	2q23	2008-02-05			ENSG00000135999	ENSG00000135999			24543	protein-coding gene	gene with protein product		611000					Standard	NM_015630		Approved	DKFZP566F2124	uc010zbt.2	Q52LR7	OTTHUMG00000153739	ENST00000258484.6:c.1145T>G	2.37:g.149526724T>G	ENSP00000258484:p.Leu382Trp						p.L382W	NM_015630.3	NP_056445.3	Q52LR7	EPC2_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0516)	8	1179	+			382					B3KWT7|D3DP89|Q7L9J1|Q96RR7|Q9NUT8|Q9NVR1|Q9UFM9	Missense_Mutation	SNP	ENST00000258484.6	37	c.1145T>G	CCDS46422.1	.	.	.	.	.	.	.	.	.	.	T	13.22	2.171724	0.38315	.	.	ENSG00000135999	ENST00000258484	T	0.19105	2.17	5.88	4.05	0.47172	.	0.205185	0.42964	D	0.000630	T	0.17916	0.0430	L	0.39898	1.24	0.80722	D	1	P	0.34699	0.464	B	0.32980	0.156	T	0.02345	-1.1173	10	0.38643	T	0.18	1.8235	12.342	0.55099	0.0:0.8593:0.0:0.1407	.	382	Q52LR7	EPC2_HUMAN	W	382	ENSP00000258484:L382W	ENSP00000258484:L382W	L	+	2	0	EPC2	149243194	0.990000	0.36364	0.804000	0.32291	0.702000	0.40608	2.794000	0.47853	0.781000	0.33589	-0.242000	0.12053	TTG		0.378	EPC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332278.1	NM_015630		5	33	0	0	0	0.217242	0	5	33					G	149526724	T	G	149526724	3	3	65	1	0	0	0	0	1	0	0	0	5161	1821	63	5	1175	5	EPC2	2	149526724	Missense_Mutation	SNP	T	TCGA-EJ-5517-01A-01D-1576-08	129036213	149526724	93672649	8	3295											
PARD3B	117583	broad.mit.edu	37	chr2	206050517	206050517	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	tgcccaatgacggatgggccGagagtgaagttccaccttct	9	9	12	11	2	1	3	0	2	1	1	2	5	2	4	4	2	1	1	4	2	2	2			TCGA-EJ-5517-01A-01D-1576-08	TCGA-EJ-5517-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	087a7f17-690b-460f-a9ce-ab90d316a64c	3a863bfc-2b84-4a57-8049-f41ebba5ab1c	g.chr2:206050517G>C	ENST00000406610.2	+	14	2161	c.1954G>C	c.(1954-1956)Gag>Cag	p.E652Q	PARD3B_ENST00000462231.1_Missense_Mutation_p.E652Q|PARD3B_ENST00000351153.1_Missense_Mutation_p.E652Q|PARD3B_ENST00000349953.3_Missense_Mutation_p.E652Q|PARD3B_ENST00000358768.2_Missense_Mutation_p.E590Q	NM_057177.6|NM_152526.5|NM_205863.3	NP_476518.4|NP_689739.4|NP_995585.2	Q8TEW8	PAR3L_HUMAN	par-3 family cell polarity regulator beta	652					cell cycle (GO:0007049)|cell division (GO:0051301)	membrane (GO:0016020)|tight junction (GO:0005923)		p.E591Q(1)|p.E652Q(1)|p.E590Q(1)		breast(1)|endometrium(9)|kidney(2)|large_intestine(6)|liver(4)|lung(33)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	65		all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06)		Epithelial(149;0.0739)		CGGATGGGCCGAGAGTGAAGT	0.443																																						ENST00000406610.2																			3	Substitution - Missense(3)	p.E591Q(1)|p.E652Q(1)|p.E590Q(1)	prostate(3)	breast(1)|endometrium(9)|kidney(2)|large_intestine(6)|liver(4)|lung(33)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	65						c.(1954-1956)Gag>Cag		par-3 family cell polarity regulator beta							170	154	159					2																	206050517		1939	4145	6084	SO:0001583	missense	117583				cell cycle|cell division	endomembrane system|tight junction		g.chr2:206050517G>C	AB053321	CCDS42804.1, CCDS42805.1, CCDS42806.1	2q33.3	2013-08-28	2013-08-28	2006-09-28	ENSG00000116117	ENSG00000116117			14446	protein-coding gene	gene with protein product			"amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 19", "par-3 partitioning defective 3 homolog B (C. elegans)"	ALS2CR19		11586298, 12459187	Standard	NM_057177		Approved	Par3L, PAR3beta	uc002vap.2	Q8TEW8	OTTHUMG00000154562	ENST00000406610.2:c.1954G>C	2.37:g.206050517G>C	ENSP00000385848:p.Glu652Gln					PARD3B_ENST00000351153.1_Missense_Mutation_p.E652Q|PARD3B_ENST00000349953.3_Missense_Mutation_p.E652Q|PARD3B_ENST00000358768.2_Missense_Mutation_p.E590Q|PARD3B_ENST00000462231.1_Missense_Mutation_p.E652Q	p.E652Q	NM_057177.6|NM_152526.5|NM_205863.3	NP_476518.4|NP_689739.4|NP_995585.2	Q8TEW8	PAR3L_HUMAN		Epithelial(149;0.0739)	14	2161	+		all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06)	652					E9PE87|Q8IUC7|Q8IUC9|Q96DK9|Q96N09|Q96NX6|Q96NX7|Q96Q29	Missense_Mutation	SNP	ENST00000406610.2	37	c.1954G>C		.	.	.	.	.	.	.	.	.	.	G	12.29	1.893432	0.33442	.	.	ENSG00000116117	ENST00000406610;ENST00000358768;ENST00000351153;ENST00000349953	T;T;T;T	0.14766	2.72;2.48;2.72;2.73	6.03	4.22	0.49857	.	0.617438	0.16432	N	0.214686	T	0.31327	0.0793	M	0.65498	2.005	0.09310	N	0.999999	D;D;B;B;P	0.76494	0.999;0.977;0.448;0.356;0.536	D;P;B;B;B	0.67900	0.954;0.688;0.201;0.132;0.252	T	0.07233	-1.0783	10	0.52906	T	0.07	.	9.2809	0.37727	0.0764:0.1453:0.7783:0.0	.	652;652;652;590;652	Q8TEW8-3;Q8TEW8;E9PE87;Q8TEW8-2;Q8TEW8-5	.;PAR3L_HUMAN;.;.;.	Q	652;590;652;652	ENSP00000385848:E652Q;ENSP00000351618:E590Q;ENSP00000317261:E652Q;ENSP00000340280:E652Q	ENSP00000340280:E652Q	E	+	1	0	PARD3B	205758762	0.988000	0.35896	0.076000	0.20297	0.022000	0.10575	2.880000	0.48530	0.875000	0.35847	-0.175000	0.13238	GAG		0.443	PARD3B-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000335992.1	NM_057177		6	244	0	0	0	0.248553	0	6	244					C	206050517	G	C	206050517	3	2	65	1	0	0	0	0	1	0	0	0	11444	1059	37	5	2008	5	PARD3B	2	206050517	Missense_Mutation	SNP	G	TCGA-EJ-5517-01A-01D-1576-08	56523793	206050517	37148856	9	3296											
PASK	23178	broad.mit.edu	37	chr2	242079323	242079323	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cgtgccaaacaccaccgcagCgtggccgtcggcctccatgt	7	6	11	17	5	0	0	0	0	0	0	2	0	1	0	6	2	3	1	6	2	1	0			TCGA-EJ-5517-01A-01D-1576-08	TCGA-EJ-5517-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	087a7f17-690b-460f-a9ce-ab90d316a64c	3a863bfc-2b84-4a57-8049-f41ebba5ab1c	g.chr2:242079323C>G	ENST00000405260.1	-	4	1275	c.577G>C	c.(577-579)Gct>Cct	p.A193P	PASK_ENST00000539818.1_Intron|PASK_ENST00000403638.3_Missense_Mutation_p.A193P|PASK_ENST00000544142.1_Intron|PASK_ENST00000358649.4_Missense_Mutation_p.A193P|PASK_ENST00000234040.4_Missense_Mutation_p.A193P	NM_001252120.1	NP_001239049.1	Q96RG2	PASK_HUMAN	PAS domain containing serine/threonine kinase	193					negative regulation of glycogen biosynthetic process (GO:0045719)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of energy homeostasis (GO:2000505)|regulation of glucagon secretion (GO:0070092)|regulation of respiratory gaseous exchange (GO:0043576)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	ATP binding (GO:0005524)|phosphatidylinositol binding (GO:0035091)|protein serine/threonine kinase activity (GO:0004674)|signal transducer activity (GO:0004871)	p.A193P(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(20)|ovary(4)|prostate(4)|skin(1)|stomach(1)|urinary_tract(2)	53		all_cancers(19;4.46e-39)|all_epithelial(40;1.34e-17)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00481)|Lung NSC(271;0.017)|Ovarian(221;0.0228)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;1.34e-31)|all cancers(36;1e-28)|OV - Ovarian serous cystadenocarcinoma(60;3.53e-14)|Kidney(56;4.31e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.35e-08)|BRCA - Breast invasive adenocarcinoma(100;5.64e-06)|Lung(119;0.000596)|LUSC - Lung squamous cell carcinoma(224;0.00481)|Colorectal(34;0.014)|COAD - Colon adenocarcinoma(134;0.0968)		ACCACCGCAGCGTGGCCGTCG	0.602																																						ENST00000403638.3																			2	Substitution - Missense(2)	p.A193P(2)	prostate(2)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(20)|ovary(4)|prostate(4)|skin(1)|stomach(1)|urinary_tract(2)	53						c.(577-579)Gct>Cct		PAS domain containing serine/threonine kinase							67	60	62					2																	242079323		2203	4300	6503	SO:0001583	missense	23178				regulation of transcription, DNA-dependent	Golgi apparatus	ATP binding|identical protein binding|protein serine/threonine kinase activity|signal transducer activity	g.chr2:242079323C>G	U79240	CCDS2545.1, CCDS58758.1, CCDS58759.1	2q37.3	2008-05-23			ENSG00000115687	ENSG00000115687			17270	protein-coding gene	gene with protein product		607505				11688972, 11459942, 15148392	Standard	NM_001252119		Approved	PASKIN, KIAA0135, STK37	uc010fzl.2	Q96RG2	OTTHUMG00000133392	ENST00000405260.1:c.577G>C	2.37:g.242079323C>G	ENSP00000384016:p.Ala193Pro					PASK_ENST00000405260.1_Missense_Mutation_p.A193P|PASK_ENST00000539818.1_Intron|PASK_ENST00000544142.1_Intron|PASK_ENST00000234040.4_Missense_Mutation_p.A193P|PASK_ENST00000358649.4_Missense_Mutation_p.A193P	p.A193P	NM_001252124.1	NP_001239053.1	Q96RG2	PASK_HUMAN		Epithelial(32;1.34e-31)|all cancers(36;1e-28)|OV - Ovarian serous cystadenocarcinoma(60;3.53e-14)|Kidney(56;4.31e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.35e-08)|BRCA - Breast invasive adenocarcinoma(100;5.64e-06)|Lung(119;0.000596)|LUSC - Lung squamous cell carcinoma(224;0.00481)|Colorectal(34;0.014)|COAD - Colon adenocarcinoma(134;0.0968)	4	668	-		all_cancers(19;4.46e-39)|all_epithelial(40;1.34e-17)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00481)|Lung NSC(271;0.017)|Ovarian(221;0.0228)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)	193					G5E9F1|Q05BE4|Q68DY3|Q6GSJ5|Q86XH6|Q99763|Q9UFR7	Missense_Mutation	SNP	ENST00000405260.1	37	c.577G>C	CCDS2545.1	.	.	.	.	.	.	.	.	.	.	C	13.88	2.369284	0.42003	.	.	ENSG00000115687	ENST00000234040;ENST00000405260;ENST00000358649;ENST00000403638	T;T;T;T	0.69306	-0.39;-0.39;-0.34;0.61	4.61	3.72	0.42706	PAS (1);PAS fold (1);	0.240936	0.29053	N	0.013289	T	0.75737	0.3890	M	0.68317	2.08	0.23249	N	0.998045	D;D;D;D	0.63046	0.992;0.982;0.971;0.992	D;P;P;D	0.64687	0.928;0.797;0.798;0.928	T	0.65245	-0.6215	10	0.49607	T	0.09	.	10.2362	0.43284	0.0:0.9027:0.0:0.0973	.	193;193;193;193	B7Z7R6;Q96RG2-2;G5E9F1;Q96RG2	.;.;.;PASK_HUMAN	P	193	ENSP00000234040:A193P;ENSP00000384016:A193P;ENSP00000351475:A193P;ENSP00000384438:A193P	ENSP00000234040:A193P	A	-	1	0	PASK	241727996	0.247000	0.23920	0.083000	0.20561	0.246000	0.25737	2.342000	0.43992	2.126000	0.65437	0.491000	0.48974	GCT		0.602	PASK-003	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000323753.1	NM_015148		18	62	0	0	0	0.575678	0	18	62					G	242079323	C	G	242079323	3	3	65	1	0	0	0	0	1	0	0	0	11472	768	27	5	3454	5	PASK	2	242079323	Missense_Mutation	SNP	C	TCGA-EJ-5517-01A-01D-1576-08	36028806	242079323	1120050	10	3297											
CNTN6	27255	broad.mit.edu	37	chr3	1262421	1262422	+	Frame_Shift_Ins	INS	-	-	T																															tcaggagccacatgatgtcaINStttttcctttggatttatca																										TCGA-EJ-5517-01A-01D-1576-08	TCGA-EJ-5517-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	087a7f17-690b-460f-a9ce-ab90d316a64c	3a863bfc-2b84-4a57-8049-f41ebba5ab1c	g.chr3:1262421_1262422insT	ENST00000446702.2	+	3	733_734	c.106_107insT	c.(106-108)attfs	p.I36fs	CNTN6_ENST00000539053.1_5'UTR|CNTN6_ENST00000350110.2_Frame_Shift_Ins_p.I36fs			Q9UQ52	CNTN6_HUMAN	contactin 6	36	Ig-like C2-type 1.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|central nervous system development (GO:0007417)|Notch signaling pathway (GO:0007219)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		all_cancers(2;0.000164)|all_epithelial(2;0.107)		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)		ACATGATGTCATTTTTCCTTTG	0.401																																						ENST00000446702.2																			0				breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90						c.(106-108)tttfs		contactin 6																																				SO:0001589	frameshift_variant	27255				axon guidance|cell adhesion|central nervous system development|Notch signaling pathway	anchored to membrane|plasma membrane		g.chr3:1262421_1262422insT	AB003592	CCDS2557.1	3p26-p25	2013-02-11			ENSG00000134115	ENSG00000134115		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	2176	protein-coding gene	gene with protein product	"neural adhesion molecule"	607220				9486763	Standard	NM_014461		Approved	NB-3	uc003bpa.3	Q9UQ52	OTTHUMG00000119030	ENST00000446702.2:c.111dupT	3.37:g.1262426_1262426dupT	ENSP00000407822:p.Ile36fs					CNTN6_ENST00000350110.2_Frame_Shift_Ins_p.F36fs|CNTN6_ENST00000539053.1_5'UTR	p.F36fs			Q9UQ52	CNTN6_HUMAN		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)	3	733_734	+		all_cancers(2;0.000164)|all_epithelial(2;0.107)	36			Ig-like C2-type 1.		Q2KHM2	Frame_Shift_Ins	INS	ENST00000446702.2	37	c.106_107insT	CCDS2557.1																																																																																				0.401	CNTN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239235.2	NM_014461		8	324						8	324	---	---	---	---	T	1262422	-	T	1262421	7	5	65	1	0	1	1	0	0	0	0	0	3645	217	8	0	112	0	CNTN6	3	1262421	Frame_Shift_Ins	INS	-	TCGA-EJ-5517-01A-01D-1576-08		1262421	196760009	11	3298											
ULK4	54986	broad.mit.edu	37	chr3	41949428	41949428	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctagttctgggagtaggaCgagaactgaaaaatacaaac	16	8	11	6	1	1	2	0	1	1	1	1	5	1	4	0	2	4	3	0	2	7	4			TCGA-EJ-5517-01A-01D-1576-08	TCGA-EJ-5517-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	087a7f17-690b-460f-a9ce-ab90d316a64c	3a863bfc-2b84-4a57-8049-f41ebba5ab1c	g.chr3:41949428C>A	ENST00000301831.4	-	12	1553	c.1091G>T	c.(1090-1092)cGt>cTt	p.R364L	ULK4_ENST00000420927.1_Missense_Mutation_p.R364L	NM_017886.2	NP_060356.2	Q96C45	ULK4_HUMAN	unc-51 like kinase 4	364					cilium morphogenesis (GO:0060271)|epithelial cilium movement (GO:0003351)|microtubule cytoskeleton organization (GO:0000226)|regulation of JNK cascade (GO:0046328)|regulation of MAPK cascade (GO:0043408)|regulation of neuron migration (GO:2001222)|regulation of neuron projection development (GO:0010975)|regulation of p38MAPK cascade (GO:1900744)|regulation of protein kinase C signaling (GO:0090036)|ventricular system development (GO:0021591)		ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.R364L(2)		breast(2)|cervix(1)|large_intestine(6)|lung(7)|prostate(5)|skin(1)	22				KIRC - Kidney renal clear cell carcinoma(284;0.214)		GGGAGTAGGACGAGAACTGAA	0.408																																						ENST00000301831.4																			2	Substitution - Missense(2)	p.R364L(2)	prostate(2)	breast(2)|cervix(1)|large_intestine(6)|lung(7)|prostate(5)|skin(1)	22						c.(1090-1092)cGt>cTt		unc-51 like kinase 4							98	97	98					3																	41949428		1865	4097	5962	SO:0001583	missense	54986						ATP binding|protein serine/threonine kinase activity	g.chr3:41949428C>A	AK000581	CCDS43071.1	3p22.1	2013-07-02	2013-07-02		ENSG00000168038	ENSG00000168038			15784	protein-coding gene	gene with protein product			"unc-51-like kinase 4 (C. elegans)"			12477932	Standard	NM_017886		Approved	FLJ20574, REC01035, FAM7C1	uc003ckv.4	Q96C45	OTTHUMG00000156210	ENST00000301831.4:c.1091G>T	3.37:g.41949428C>A	ENSP00000301831:p.Arg364Leu					ULK4_ENST00000420927.1_Missense_Mutation_p.R364L	p.R364L	NM_017886.2	NP_060356.2	Q96C45	ULK4_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.214)	12	1553	-			364					A6NF15|Q8IW79|Q9NWV6|Q9UF96	Missense_Mutation	SNP	ENST00000301831.4	37	c.1091G>T	CCDS43071.1	.	.	.	.	.	.	.	.	.	.	C	25.7	4.661761	0.88154	.	.	ENSG00000168038	ENST00000301831;ENST00000420927	T;T	0.67865	0.5;-0.29	5.68	5.68	0.88126	.	0.118609	0.53938	D	0.000056	T	0.76744	0.4030	L	0.47190	1.495	0.80722	D	1	D;D	0.89917	0.997;1.0	D;D	0.68943	0.912;0.961	T	0.77075	-0.2722	10	0.56958	D	0.05	.	16.6953	0.85334	0.0:1.0:0.0:0.0	.	364;364	B4E2M4;Q96C45	.;ULK4_HUMAN	L	364	ENSP00000301831:R364L;ENSP00000412187:R364L	ENSP00000301831:R364L	R	-	2	0	ULK4	41924432	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.775000	0.62346	2.675000	0.91044	0.655000	0.94253	CGT		0.408	ULK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343490.1	XM_929989		29	83	1	0	3.65163e-15	0.706142	4.50626e-15	29	83					A	41949428	C	A	41949428	3	1	65	1	0	0	0	0	1	0	0	0	16975	536	19	5	2840	5	ULK4	3	41949428	Missense_Mutation	SNP	C	TCGA-EJ-5517-01A-01D-1576-08	40687007	41949428	156073002	12	3299											
CORIN	10699	broad.mit.edu	37	chr4	47679997	47679997	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	actcccatccttgcagtcctCgtcaccatcacattgaaacg	10	10	5	16	2	2	1	2	1	0	0	6	1	5	1	4	0	2	1	4	0	1	2	rs564704370		TCGA-EJ-5517-01A-01D-1576-08	TCGA-EJ-5517-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	087a7f17-690b-460f-a9ce-ab90d316a64c	3a863bfc-2b84-4a57-8049-f41ebba5ab1c	g.chr4:47679997C>T	ENST00000273857.4	-	9	1206	c.1207G>A	c.(1207-1209)Gag>Aag	p.E403K	CORIN_ENST00000502252.1_Missense_Mutation_p.E336K|CORIN_ENST00000504584.1_Missense_Mutation_p.E366K|CORIN_ENST00000508498.1_Missense_Mutation_p.E264K|CORIN_ENST00000505909.1_Missense_Mutation_p.E366K	NM_006587.2	NP_006578.2	Q9Y5Q5	CORIN_HUMAN	corin, serine peptidase	403	LDL-receptor class A 4. {ECO:0000255|PROSITE-ProRule:PRU00124}.				female pregnancy (GO:0007565)|peptide hormone processing (GO:0016486)|proteolysis (GO:0006508)|regulation of blood pressure (GO:0008217)|regulation of renal sodium excretion (GO:0035813)|regulation of systemic arterial blood pressure by atrial natriuretic peptide (GO:0003050)	cell surface (GO:0009986)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)|serine-type exopeptidase activity (GO:0070008)	p.E403K(1)		NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(18)|lung(39)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	79						TTGCAGTCCTCGTCACCATCA	0.512													C|||	1	0.000199681	0	0	5008	,	,		21376	0		0.001	False		,,,				2504	0					ENST00000273857.4																			1	Substitution - Missense(1)	p.E403K(1)	prostate(1)	NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(18)|lung(39)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	79						c.(1207-1209)Gag>Aag		corin, serine peptidase							154	127	136					4																	47679997		2203	4300	6503	SO:0001583	missense	10699				peptide hormone processing|regulation of systemic arterial blood pressure by atrial natriuretic peptide	integral to membrane|plasma membrane	scavenger receptor activity|serine-type endopeptidase activity|serine-type exopeptidase activity	g.chr4:47679997C>T	AF133845	CCDS3477.1, CCDS63958.1, CCDS75122.1	4p13-p12	2011-08-31	2005-08-17		ENSG00000145244	ENSG00000145244		"Serine peptidases / Transmembrane"	19012	protein-coding gene	gene with protein product		605236	"corin, serine protease"			10329693	Standard	NM_006587		Approved	PRSC, CRN, ATC2, Lrp4, TMPRSS10	uc003gxm.3	Q9Y5Q5	OTTHUMG00000099441	ENST00000273857.4:c.1207G>A	4.37:g.47679997C>T	ENSP00000273857:p.Glu403Lys					CORIN_ENST00000505909.1_Missense_Mutation_p.E366K|CORIN_ENST00000504584.1_Missense_Mutation_p.E366K|CORIN_ENST00000508498.1_Missense_Mutation_p.E264K|CORIN_ENST00000502252.1_Missense_Mutation_p.E336K	p.E403K	NM_006587.2	NP_006578.2	Q9Y5Q5	CORIN_HUMAN			9	1206	-			403			LDL-receptor class A 4.		B0ZBE3|Q2TBD2|Q4W5E5|Q4W5G6|Q9UHY2	Missense_Mutation	SNP	ENST00000273857.4	37	c.1207G>A	CCDS3477.1	.	.	.	.	.	.	.	.	.	.	C	7.492	0.650800	0.14516	.	.	ENSG00000145244	ENST00000273857;ENST00000508498;ENST00000502252;ENST00000505909;ENST00000504584	D;D;D;D;D	0.95377	-3.69;-3.69;-3.69;-3.69;-3.69	5.83	3.02	0.34903	Low-density lipoprotein (LDL) receptor class A, conserved site (1);	0.385286	0.29389	N	0.012293	D	0.84211	0.5422	N	0.04959	-0.14	0.29355	N	0.865058	B;B;B;B	0.17268	0.004;0.021;0.005;0.011	B;B;B;B	0.19946	0.008;0.027;0.008;0.007	T	0.72991	-0.4123	10	0.06494	T	0.89	.	4.8206	0.13389	0.0:0.4636:0.3101:0.2263	.	366;366;336;403	B7Z4R1;B4E2W9;B4E1Y7;Q9Y5Q5	.;.;.;CORIN_HUMAN	K	403;264;336;366;366	ENSP00000273857:E403K;ENSP00000425597:E264K;ENSP00000424212:E336K;ENSP00000425401:E366K;ENSP00000423216:E366K	ENSP00000273857:E403K	E	-	1	0	CORIN	47374754	0.013000	0.17824	0.974000	0.42286	0.554000	0.35429	0.169000	0.16641	0.797000	0.33971	-0.282000	0.10007	GAG		0.512	CORIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216906.2			5	157	0	0	0	0.184627	0	5	157					T	47679997	C	T	47679997	3	4	65	1	0	0	0	0	1	0	0	0	3752	893	31	2	1977	2	CORIN	4	47679997	Missense_Mutation	SNP	C	TCGA-EJ-5517-01A-01D-1576-08		47679997	143474279	13	3300											
DCHS2	54798	broad.mit.edu	37	chr4	155242138	155242138	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctgaaaagataatgagatgtCgtctcataatcaagttcctt	14	13	7	7	1	2	3	2	2	1	2	5	4	3	3	1	0	0	1	1	0	5	4			TCGA-EJ-5517-01A-01D-1576-08	TCGA-EJ-5517-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	087a7f17-690b-460f-a9ce-ab90d316a64c	3a863bfc-2b84-4a57-8049-f41ebba5ab1c	g.chr4:155242138C>T	ENST00000357232.4	-	14	3047	c.3048G>A	c.(3046-3048)acG>acA	p.T1016T		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	1016	Cadherin 8. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.T1016T(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		AATGAGATGTCGTCTCATAAT	0.378																																						ENST00000357232.3																			1	Substitution - coding silent(1)	p.T1016T(1)	prostate(1)	NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176						c.(3046-3048)acG>acA		dachsous cadherin-related 2							130	129	129					4																	155242138		2203	4300	6503	SO:0001819	synonymous_variant	54798				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:155242138C>T	BC140919	CCDS3785.1, CCDS47150.1	4q32.1	2014-06-04	2013-10-04	2004-09-03		ENSG00000197410		"Cadherins / Cadherin-related"	23111	protein-coding gene	gene with protein product	"cadherin-related family member 7"	612486	"cadherin-like 27", "dachsous 2 (Drosophila)"	CDH27, PCDH23		15003449	Standard	NM_017639		Approved	CDHJ, FLJ20047, PCDHJ, CDHR7	uc003inw.2	Q6V1P9		ENST00000357232.4:c.3048G>A	4.37:g.155242138C>T							p.T1016T	NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN		LUSC - Lung squamous cell carcinoma(193;0.107)	14	3047	-	all_hematologic(180;0.208)	Renal(120;0.0854)	1016			Cadherin 8.		B2RU14|E9PC11|Q4W5P9|Q6ZS61|Q9NXU8	Silent	SNP	ENST00000357232.4	37	c.3048G>A	CCDS3785.1																																																																																				0.378	DCHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365281.2	NM_001142552		30	341	0	0	0	0.717897	0	30	341					T	155242138	C	T	155242138	2	4	65	1	0	0	0	0	0	0	0	1	4288	871	31	2		2	DCHS2	4	155242138	Silent	SNP	C	TCGA-EJ-5517-01A-01D-1576-08	107562141	155242138	35912138	14	3301											
SLC22A4	6583	broad.mit.edu	37	chr5	131676278	131676278	+	Frame_Shift_Del	DEL	C	C	-																															gtgcttacaacagaatgctgCcctacatcgtcatgggtagt																										TCGA-EJ-5517-01A-01D-1576-08	TCGA-EJ-5517-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	087a7f17-690b-460f-a9ce-ab90d316a64c	3a863bfc-2b84-4a57-8049-f41ebba5ab1c	g.chr5:131676278delC	ENST00000200652.3	+	9	1639	c.1465delC	c.(1465-1467)cccfs	p.P489fs	AC034220.3_ENST00000417795.1_RNA|AC034220.3_ENST00000437091.1_RNA	NM_003059.2	NP_003050.2	Q9H015	S22A4_HUMAN	solute carrier family 22 (organic cation/zwitterion transporter), member 4	489					body fluid secretion (GO:0007589)|carnitine metabolic process (GO:0009437)|carnitine transmembrane transport (GO:1902603)|carnitine transport (GO:0015879)|cation transmembrane transport (GO:0098655)|organic cation transport (GO:0015695)|quaternary ammonium group transport (GO:0015697)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|triglyceride metabolic process (GO:0006641)	apical plasma membrane (GO:0016324)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|carnitine transmembrane transporter activity (GO:0015226)|cation:cation antiporter activity (GO:0015491)|nucleotide binding (GO:0000166)|PDZ domain binding (GO:0030165)|quaternary ammonium group transmembrane transporter activity (GO:0015651)|secondary active organic cation transmembrane transporter activity (GO:0008513)|symporter activity (GO:0015293)			endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|urinary_tract(1)	16		all_cancers(142;0.0752)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		Amiloride(DB00594)|Aminohippurate(DB00345)|Benzylpenicillin(DB01053)|Choline(DB00122)|Cimetidine(DB00501)|Clonidine(DB00575)|Desipramine(DB01151)|Guanidine(DB00536)|Imipramine(DB00458)|Ipratropium bromide(DB00332)|L-Arginine(DB00125)|L-Carnitine(DB00583)|L-Lysine(DB00123)|Levofloxacin(DB01137)|Mepyramine(DB06691)|Nicotine(DB00184)|Ofloxacin(DB01165)|Procainamide(DB01035)|Quinidine(DB00908)|Quinine(DB00468)|Spermine(DB00127)|Testosterone(DB00624)|Tiotropium(DB01409)|Verapamil(DB00661)	CAGAATGCTGCCCTACATCGT	0.458																																						ENST00000200652.3																			0				endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|urinary_tract(1)	16						c.(1465-1467)ccfs		solute carrier family 22 (organic cation/zwitterion transporter), member 4	L-Carnitine(DB00583)						263	248	253					5																	131676278		2203	4300	6503	SO:0001589	frameshift_variant	6583				body fluid secretion|sodium ion transport	apical plasma membrane|integral to plasma membrane|mitochondrion	ATP binding|carnitine transporter activity|cation:cation antiporter activity|PDZ domain binding|secondary active organic cation transmembrane transporter activity|symporter activity	g.chr5:131676278delC	AB007448	CCDS4153.1	5q23.3	2013-07-18	2013-07-18		ENSG00000197208	ENSG00000197208		"Solute carriers"	10968	protein-coding gene	gene with protein product		604190	"solute carrier family 22 (organic cation/ergothioneine transporter), member 4"			9426230, 15795384	Standard	NM_003059		Approved	OCTN1, MGC34546	uc003kwq.3	Q9H015	OTTHUMG00000059648	ENST00000200652.3:c.1465delC	5.37:g.131676278delC	ENSP00000200652:p.Pro489fs					AC034220.3_ENST00000417795.1_RNA|AC034220.3_ENST00000437091.1_RNA	p.P489fs	NM_003059.2	NP_003050.2	Q9H015	S22A4_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		9	1639	+		all_cancers(142;0.0752)|Breast(839;0.198)	489					O14546	Frame_Shift_Del	DEL	ENST00000200652.3	37	c.1465delC	CCDS4153.1																																																																																				0.458	SLC22A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132661.1	NM_003059		15	665						15	665	---	---	---	---	-	131676278	C	-	131676278	7	5	65	1	0	1	0	1	0	0	0	0	14456	739	26	0	1499	0	SLC22A4	5	131676278	Frame_Shift_Del	DEL	C	TCGA-EJ-5517-01A-01D-1576-08		131676278	49238982	15	3302											
FAM13B	51306	broad.mit.edu	37	chr5	137277736	137277736	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttgttccaataattcaggccTagaattgaaatggtaaaata	16	13	7	5	0	1	2	1	1	0	1	2	2	2	2	2	2	0	2	2	2	8	8			TCGA-EJ-5517-01A-01D-1576-08	TCGA-EJ-5517-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	087a7f17-690b-460f-a9ce-ab90d316a64c	3a863bfc-2b84-4a57-8049-f41ebba5ab1c	g.chr5:137277736T>C	ENST00000033079.3	-	22	2974		c.e22-2		PKD2L2_ENST00000508883.1_Intron|FAM13B_ENST00000420893.2_Splice_Site|FAM13B_ENST00000425075.2_Splice_Site	NM_016603.2	NP_057687.2	Q9NYF5	FA13B_HUMAN	family with sequence similarity 13, member B						regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)	p.?(1)		endometrium(4)|kidney(2)|lung(5)	11						AATTCAGGCCTAGAATTGAAA	0.368																																						ENST00000033079.3																			1	Unknown(1)	p.?(1)	prostate(1)	endometrium(4)|kidney(2)|lung(5)	11						c.e22-2		family with sequence similarity 13, member B							84	81	82					5																	137277736		2203	4298	6501	SO:0001630	splice_region_variant	0				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	g.chr5:137277736T>C	AF251038	CCDS4195.1, CCDS47269.1, CCDS47270.1	5q31	2011-09-07	2009-01-20	2009-01-20	ENSG00000031003	ENSG00000031003		"Rho GTPase activating proteins"	1335	protein-coding gene	gene with protein product		609371	"chromosome 5 open reading frame 5", "family with sequence similarity 13, member B1"	C5orf5, FAM13B1		11087669, 11161817	Standard	NM_016603		Approved	N61, KHCHP, ARHGAP49	uc003lbz.2	Q9NYF5	OTTHUMG00000129202	ENST00000033079.3:c.2523-2A>G	5.37:g.137277736T>C						PKD2L2_ENST00000508883.1_Intron|FAM13B_ENST00000425075.2_Splice_Site|FAM13B_ENST00000420893.2_Splice_Site		NM_016603.2	NP_057687.2	Q9NYF5	FA13B_HUMAN			22	2974	-								D3DQB5|G3V0H9|Q3ZCR0|Q6PGQ2|Q9P0I7	Splice_Site	SNP	ENST00000033079.3	37		CCDS4195.1	.	.	.	.	.	.	.	.	.	.	T	24.7	4.559682	0.86335	.	.	ENSG00000031003	ENST00000033079;ENST00000425075;ENST00000420893	.	.	.	5.55	5.55	0.83447	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.6992	0.77528	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	FAM13B	137305635	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	7.407000	0.80029	2.124000	0.65301	0.528000	0.53228	.		0.368	FAM13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251279.1		Intron	3	118	0	0	0	0.115264	0	3	118					C	137277736	T	C	137277736	5	2	65	1	0	0	0	0	0	0	1	0	5453	1536	53	4	234	4	FAM13B	5	137277736	Splice_Site	SNP	T	TCGA-EJ-5517-01A-01D-1576-08	5601458	137277736	43637524	16	3303											
PCDHB8	56128	broad.mit.edu	37	chr5	140558062	140558062	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtatcagagagcagtcctccTgggactgcgtttcctctgaa	8	11	11	11	1	2	2	1	1	1	1	5	4	5	3	3	1	2	3	3	1	2	2			TCGA-EJ-5517-01A-01D-1576-08	TCGA-EJ-5517-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	087a7f17-690b-460f-a9ce-ab90d316a64c	3a863bfc-2b84-4a57-8049-f41ebba5ab1c	g.chr5:140558062T>A	ENST00000239444.2	+	1	692	c.447T>A	c.(445-447)ccT>ccA	p.P149P	PCDHB16_ENST00000361016.2_5'Flank	NM_019120.3	NP_061993.2	Q9UN66	PCDB8_HUMAN	protocadherin beta 8	149	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.P149P(1)		NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCAGTCCTCCTGGGACTGCGT	0.413																																						ENST00000239444.2																			1	Substitution - coding silent(1)	p.P149P(1)	prostate(1)	NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83						c.(445-447)ccT>ccA									68	105	92					5																	140558062		2203	4300	6503	SO:0001819	synonymous_variant	0				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140558062T>A	AF152501	CCDS4250.1	5q31	2010-01-26			ENSG00000120322	ENSG00000120322		"Cadherins / Protocadherins : Clustered"	8693	other	protocadherin		606334				10380929	Standard	NM_019120		Approved	PCDH-BETA8, PCDH3I	uc011dai.2	Q9UN66	OTTHUMG00000129621	ENST00000239444.2:c.447T>A	5.37:g.140558062T>A							p.P149P	NM_019120.3	NP_061993.2	Q9UN66	PCDB8_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	692	+			149			Cadherin 2.		B9EGV1	Silent	SNP	ENST00000239444.2	37	c.447T>A	CCDS4250.1																																																																																				0.413	PCDHB8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251816.2	NM_019120		91	395	0	0	0	0.870114	0	91	395					A	140558062	T	A	140558062	2	1	65	1	0	0	0	0	0	0	0	1	11548	1567	55	5		5	PCDHB8	5	140558062	Silent	SNP	T	TCGA-EJ-5517-01A-01D-1576-08	3280326	140558062	40357198	17	3304											
PCDHGB7	56099	broad.mit.edu	37	chr5	140798265	140798265	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	caactcagagatcacttattCcttctttggtgtggctgaca	9	14	8	10	0	3	2	2	1	1	1	4	3	4	2	1	2	1	1	1	2	2	4			TCGA-EJ-5517-01A-01D-1576-08	TCGA-EJ-5517-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	087a7f17-690b-460f-a9ce-ab90d316a64c	3a863bfc-2b84-4a57-8049-f41ebba5ab1c	g.chr5:140798265C>T	ENST00000398594.2	+	1	839	c.839C>T	c.(838-840)tCc>tTc	p.S280F	PCDHGB3_ENST00000576222.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA11_ENST00000518882.1_5'Flank|PCDHGA10_ENST00000398610.2_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA11_ENST00000398587.2_5'Flank	NM_018927.3	NP_061750.1	Q9Y5F8	PCDGJ_HUMAN	protocadherin gamma subfamily B, 7	280	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.S280F(1)		central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(13)|lung(15)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(3)	56			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATCACTTATTCCTTCTTTGGT	0.493																																						ENST00000398594.2																			1	Substitution - Missense(1)	p.S280F(1)	prostate(1)	central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(13)|lung(15)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(3)	56						c.(838-840)tCc>tTc									48	49	48					5																	140798265		2020	4188	6208	SO:0001583	missense	0							g.chr5:140798265C>T	AF152523	CCDS47293.1, CCDS75344.1	5q31	2010-01-26			ENSG00000254122	ENSG00000254122		"Cadherins / Protocadherins : Clustered"	8714	other	protocadherin	"cadherin ME6"	606304				10380929	Standard	NM_032101		Approved	ME6, PCDH-GAMMA-B7		Q9Y5F8	OTTHUMG00000164054	ENST00000398594.2:c.839C>T	5.37:g.140798265C>T	ENSP00000381594:p.Ser280Phe					PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA8_ENST00000398604.2_Intron	p.S280F	NM_018927.3	NP_061750.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	839	+								Q9UN63	Missense_Mutation	SNP	ENST00000398594.2	37	c.839C>T	CCDS47293.1	.	.	.	.	.	.	.	.	.	.	c	10.07	1.249697	0.22880	.	.	ENSG00000254122	ENST00000398594	T	0.55052	0.54	5.7	5.7	0.88788	Cadherin (4);Cadherin-like (1);	0.279023	0.18927	U	0.127317	T	0.53932	0.1827	L	0.60904	1.88	0.31562	N	0.6574	B;B	0.23058	0.045;0.079	B;B	0.29176	0.071;0.099	T	0.59579	-0.7428	10	0.51188	T	0.08	.	15.7954	0.78407	0.0:0.8637:0.1363:0.0	.	280;280	Q9Y5F8;Q9Y5F8-2	PCDGJ_HUMAN;.	F	280	ENSP00000381594:S280F	ENSP00000381594:S280F	S	+	2	0	PCDHGB7	140778449	0.000000	0.05858	0.995000	0.50966	0.089000	0.18198	-0.579000	0.05834	2.711000	0.92665	0.561000	0.74099	TCC		0.493	PCDHGB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376973.1	NM_018927		30	43	0	0	0	0.729181	0	30	43					T	140798265	C	T	140798265	3	4	65	1	0	0	0	0	1	0	0	0	11568	855	30	3	841	3	PCDHGB7	5	140798265	Missense_Mutation	SNP	C	TCGA-EJ-5517-01A-01D-1576-08	240203	140798265	40116995	18	3305											
TNXB	7148	broad.mit.edu	37	chr6	32018029	32018029	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcacggtcagctcccccaggCgaggcttgatggggggctca	6	7	15	13	2	3	1	3	1	0	0	4	2	4	1	2	6	1	3	2	6	0	1			TCGA-EJ-5517-01A-01D-1576-08	TCGA-EJ-5517-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	087a7f17-690b-460f-a9ce-ab90d316a64c	3a863bfc-2b84-4a57-8049-f41ebba5ab1c	g.chr6:32018029C>T	ENST00000375244.3	-	27	9386	c.9185G>A	c.(9184-9186)cGc>cAc	p.R3062H	TNXB_ENST00000375247.2_Missense_Mutation_p.R3060H			P22105	TENX_HUMAN	tenascin XB	3107	Fibronectin type-III 22. {ECO:0000255|PROSITE-ProRule:PRU00316}.				actin cytoskeleton organization (GO:0030036)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|collagen fibril organization (GO:0030199)|collagen metabolic process (GO:0032963)|elastic fiber assembly (GO:0048251)|extracellular fibril organization (GO:0043206)|fatty acid metabolic process (GO:0006631)|regulation of JUN kinase activity (GO:0043506)|single organismal cell-cell adhesion (GO:0016337)|triglyceride metabolic process (GO:0006641)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)	p.R3127H(2)		endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						CTCCCCCAGGCGAGGCTTGAT	0.627																																						ENST00000375244.3																			2	Substitution - Missense(2)	p.R3127H(2)	prostate(1)|central_nervous_system(1)	endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						c.(9184-9186)cGc>cAc		tenascin XB							98	108	105					6																	32018029		1265	2534	3799	SO:0001583	missense	7148				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding	g.chr6:32018029C>T	X71923	CCDS4736.1	6p21.3	2013-02-11			ENSG00000168477	ENSG00000168477		"Fibrinogen C domain containing", "Fibronectin type III domain containing"	11976	protein-coding gene	gene with protein product		600985		TNXB1, TNXB2		8530023	Standard	NM_019105		Approved	TNXBS, XBS, XB	uc021yvf.2	P22105	OTTHUMG00000031088	ENST00000375244.3:c.9185G>A	6.37:g.32018029C>T	ENSP00000364393:p.Arg3062His					TNXB_ENST00000375247.2_Missense_Mutation_p.R3060H	p.R3062H			P22105	TENX_HUMAN			27	9386	-			3107			Fibronectin type-III 22.		P78530|P78531|Q08424|Q08AM0|Q08AM1|Q59GU7|Q5SQD3|Q5ST74|Q7L8Q4|Q8N4R1|Q9NPK9|Q9UC10|Q9UC11|Q9UC12|Q9UC13|Q9UMG7	Missense_Mutation	SNP	ENST00000375244.3	37	c.9185G>A		.	.	.	.	.	.	.	.	.	.	c	8.583	0.882855	0.17467	.	.	ENSG00000168477	ENST00000375244;ENST00000375247	T;T	0.57273	0.61;0.41	3.59	-4.08	0.03963	.	1.760500	0.02907	N	0.136245	T	0.21881	0.0527	L	0.55213	1.73	0.09310	N	1	B	0.10296	0.003	B	0.08055	0.003	T	0.21724	-1.0237	10	0.48119	T	0.1	.	3.8022	0.08763	0.2688:0.3307:0.0:0.4005	.	3060	P22105-3	.	H	3062;3060	ENSP00000364393:R3062H;ENSP00000364396:R3060H	ENSP00000364393:R3062H	R	-	2	0	TNXB	32126007	0.000000	0.05858	0.099000	0.21106	0.701000	0.40568	-3.649000	0.00404	-0.841000	0.04200	-0.380000	0.06706	CGC		0.627	TNXB-001	PUTATIVE	not_organism_supported|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000268927.2	NM_019105		42	85	0	0	0	0.870114	0	42	85					T	32018029	C	T	32018029	3	4	65	1	0	0	0	0	1	0	0	0	16343	768	27	1	5606	1	TNXB	6	32018029	Missense_Mutation	SNP	C	TCGA-EJ-5517-01A-01D-1576-08		32018029	139097038	19	3306											
COL11A2	1302	broad.mit.edu	37	chr6	33135619	33135619	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gcccctcggaaccaggcgagCcagcaggaccctgcaggtgg	8	3	15	15	2	0	0	0	0	0	0	1	3	0	2	5	5	4	2	5	5	1	0			TCGA-EJ-5517-01A-01D-1576-08	TCGA-EJ-5517-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	087a7f17-690b-460f-a9ce-ab90d316a64c	3a863bfc-2b84-4a57-8049-f41ebba5ab1c	g.chr6:33135619C>A	ENST00000374708.4	-	53	3971	c.3713G>T	c.(3712-3714)gGc>gTc	p.G1238V	COL11A2_ENST00000374714.1_Missense_Mutation_p.G1298V|COL11A2_ENST00000361917.1_Missense_Mutation_p.G1217V|COL11A2_ENST00000341947.2_Missense_Mutation_p.G1324V|COL11A2_ENST00000374712.1_Missense_Mutation_p.G1243V|COL11A2_ENST00000477772.1_Intron|COL11A2_ENST00000357486.1_Missense_Mutation_p.G1303V|COL11A2_ENST00000395197.1_Missense_Mutation_p.G1264V|COL11A2_ENST00000374713.1_Missense_Mutation_p.G1277V	NM_080681.2	NP_542412.2	P13942	COBA2_HUMAN	collagen, type XI, alpha 2	1324	Triple-helical region.				cartilage development (GO:0051216)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|palate development (GO:0060021)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|soft palate development (GO:0060023)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)	p.G1324V(1)		biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						ACCAGGCGAGCCAGCAGGACC	0.637																																					Melanoma(1;90 116 3946 5341 17093)	ENST00000341947.2																			1	Substitution - Missense(1)	p.G1324V(1)	prostate(1)	biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						c.(3970-3972)gGc>gTc		collagen, type XI, alpha 2							79	50	60					6																	33135619		1511	2708	4219	SO:0001583	missense	1302				cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development	collagen type XI	extracellular matrix structural constituent conferring tensile strength|protein binding, bridging	g.chr6:33135619C>A	U32169	CCDS43452.1, CCDS54992.1	6p21.3	2013-01-16			ENSG00000204248	ENSG00000204248		"Collagens"	2187	protein-coding gene	gene with protein product		120290		DFNA13, DFNB53		7559422, 10581026	Standard	NM_080679		Approved	HKE5	uc003ocx.1	P13942	OTTHUMG00000031036	ENST00000374708.4:c.3713G>T	6.37:g.33135619C>A	ENSP00000363840:p.Gly1238Val					COL11A2_ENST00000477772.1_Intron|COL11A2_ENST00000395197.1_Missense_Mutation_p.G1264V|COL11A2_ENST00000374708.4_Missense_Mutation_p.G1238V|COL11A2_ENST00000357486.1_Missense_Mutation_p.G1303V|COL11A2_ENST00000361917.1_Missense_Mutation_p.G1217V|COL11A2_ENST00000374712.1_Missense_Mutation_p.G1243V|COL11A2_ENST00000374713.1_Missense_Mutation_p.G1277V|COL11A2_ENST00000374714.1_Missense_Mutation_p.G1298V	p.G1324V	NM_080680.2	NP_542411.2	P13942	COBA2_HUMAN			55	4198	-			1324			Triple-helical region.		A6NLX2|E7ER90|Q07751|Q13271|Q13272|Q13273|Q5JP94|Q5SUI8|Q7Z6C3|Q99866|Q9UIP9	Missense_Mutation	SNP	ENST00000374708.4	37	c.3971G>T	CCDS43452.1	.	.	.	.	.	.	.	.	.	.	C	13.00	2.104917	0.37145	.	.	ENSG00000204248	ENST00000374708;ENST00000341947;ENST00000357486;ENST00000374714;ENST00000374713;ENST00000395197;ENST00000374712;ENST00000361917	D;D;D;D;D;D;D;D	0.99186	-3.64;-5.53;-5.53;-5.53;-4.29;-3.64;-4.29;-4.29	4.37	4.37	0.52481	.	0.000000	0.85682	D	0.000000	D	0.99510	0.9825	H	0.96015	3.755	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.998	D	0.98111	1.0420	10	0.87932	D	0	.	14.5034	0.67737	0.0:1.0:0.0:0.0	.	1217;1238;1324	P13942-8;P13942-6;P13942	.;.;COBA2_HUMAN	V	1238;1324;1303;1298;1277;1264;1243;1217	ENSP00000363840:G1238V;ENSP00000339915:G1324V;ENSP00000350079:G1303V;ENSP00000363846:G1298V;ENSP00000363845:G1277V;ENSP00000378623:G1264V;ENSP00000363844:G1243V;ENSP00000355123:G1217V	ENSP00000339915:G1324V	G	-	2	0	COL11A2	33243597	1.000000	0.71417	0.978000	0.43139	0.099000	0.18886	7.486000	0.81215	2.263000	0.75096	0.442000	0.29010	GGC		0.637	COL11A2-001	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000076032.2			3	37	1	0	0.00909568	0.150653	0.0103441	3	37					A	33135619	C	A	33135619	3	1	65	1	0	0	0	0	1	0	0	0	3668	739	26	5	1287	5	COL11A2	6	33135619	Missense_Mutation	SNP	C	TCGA-EJ-5517-01A-01D-1576-08	1117590	33135619	137979448	20	3307											
DAAM2	23500	broad.mit.edu	37	chr6	39828787	39828787	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tggcagatctactgcagcaaGaagaaggtgccctctctgac	11	8	11	11	0	2	4	0	1	2	3	3	4	2	4	1	2	4	3	1	2	4	1			TCGA-EJ-5517-01A-01D-1576-08	TCGA-EJ-5517-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	087a7f17-690b-460f-a9ce-ab90d316a64c	3a863bfc-2b84-4a57-8049-f41ebba5ab1c	g.chr6:39828787G>A	ENST00000398904.2	+	3	434	c.252G>A	c.(250-252)aaG>aaA	p.K84K	DAAM2_ENST00000405961.3_Silent_p.K84K|DAAM2_ENST00000538976.1_Silent_p.K84K|DAAM2_ENST00000274867.4_Silent_p.K84K|DAAM2_ENST00000494405.1_3'UTR			Q86T65	DAAM2_HUMAN	dishevelled associated activator of morphogenesis 2	84	GBD/FH3. {ECO:0000255|PROSITE- ProRule:PRU00579}.				actin cytoskeleton organization (GO:0030036)|determination of left/right symmetry (GO:0007368)			p.K84K(1)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(18)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)	49	Ovarian(28;0.0355)|Colorectal(47;0.196)					ACTGCAGCAAGAAGAAGGTGC	0.502																																						ENST00000538976.1																			1	Substitution - coding silent(1)	p.K84K(1)	prostate(1)	NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(18)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)	49						c.(250-252)aaG>aaA		dishevelled associated activator of morphogenesis 2							87	81	83					6																	39828787		1954	4139	6093	SO:0001819	synonymous_variant	23500				actin cytoskeleton organization		actin binding|Rho GTPase binding	g.chr6:39828787G>A	AB002379	CCDS54999.1, CCDS56426.1	6p21.1	2008-07-30			ENSG00000146122	ENSG00000146122			18143	protein-coding gene	gene with protein product		606627				11779461, 12632087	Standard	NM_015345		Approved	KIAA0381	uc003oow.3	Q86T65	OTTHUMG00000014653	ENST00000398904.2:c.252G>A	6.37:g.39828787G>A						DAAM2_ENST00000494405.1_3'UTR|DAAM2_ENST00000405961.3_Silent_p.K84K|DAAM2_ENST00000398904.2_Silent_p.K84K|DAAM2_ENST00000274867.4_Silent_p.K84K	p.K84K	NM_015345.3	NP_056160.2	Q86T65	DAAM2_HUMAN			3	434	+	Ovarian(28;0.0355)|Colorectal(47;0.196)		84			GBD/FH3.		G5EA45|Q5T4T8|Q5T4U0|Q9NQI5|Q9Y4G0	Silent	SNP	ENST00000398904.2	37	c.252G>A	CCDS56426.1																																																																																				0.502	DAAM2-003	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000280648.1			7	22	0	0	0	0.27861	0	7	22					A	39828787	G	A	39828787	2	1	65	1	0	0	0	0	0	0	0	1	4216	933	33	3		3	DAAM2	6	39828787	Silent	SNP	G	TCGA-EJ-5517-01A-01D-1576-08	6693168	39828787	131286280	21	3308											
DPP6	1804	broad.mit.edu	37	chr7	154667655	154667655	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cagagtgtggctgagaagttCgaggtgagctgggagacggt	9	8	19	5	2	0	4	0	2	0	3	1	7	0	4	0	4	1	3	0	4	1	1			TCGA-EJ-5517-01A-01D-1576-08	TCGA-EJ-5517-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	087a7f17-690b-460f-a9ce-ab90d316a64c	3a863bfc-2b84-4a57-8049-f41ebba5ab1c	g.chr7:154667655C>T	ENST00000377770.3	+	20	2064	c.1923C>T	c.(1921-1923)ttC>ttT	p.F641F	DPP6_ENST00000332007.3_Silent_p.F579F|DPP6_ENST00000404039.1_Silent_p.F577F|DPP6_ENST00000427557.1_Silent_p.F534F			P42658	DPP6_HUMAN	dipeptidyl-peptidase 6	641					cell death (GO:0008219)|neuronal action potential (GO:0019228)|positive regulation of potassium ion transmembrane transport (GO:1901381)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	dipeptidyl-peptidase activity (GO:0008239)|serine-type peptidase activity (GO:0008236)	p.F577F(1)|p.F641F(1)		NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	71	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	OV - Ovarian serous cystadenocarcinoma(82;0.0562)			CTGAGAAGTTCGAGGTGAGCT	0.652																																					NSCLC(125;1384 1783 2490 7422 34254)	ENST00000404039.1																			2	Substitution - coding silent(2)	p.F577F(1)|p.F641F(1)	prostate(2)	NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	71						c.(1729-1731)ttC>ttT		dipeptidyl-peptidase 6							29	35	33					7																	154667655		2080	4200	6280	SO:0001819	synonymous_variant	1804				cell death|proteolysis	integral to membrane	dipeptidyl-peptidase activity|serine-type peptidase activity	g.chr7:154667655C>T	M96859	CCDS75682.1, CCDS75683.1, CCDS75684.1	7q36.2	2006-08-07	2006-01-12		ENSG00000130226	ENSG00000130226			3010	protein-coding gene	gene with protein product		126141	"dipeptidylpeptidase VI", "dipeptidylpeptidase 6"			1729689	Standard	XM_006715871		Approved	DPPX	uc003wlk.3	P42658	OTTHUMG00000151511	ENST00000377770.3:c.1923C>T	7.37:g.154667655C>T						DPP6_ENST00000377770.3_Silent_p.F641F|DPP6_ENST00000427557.1_Silent_p.F534F|DPP6_ENST00000332007.3_Silent_p.F579F	p.F577F	NM_001039350.1|NM_001936.3|NM_130797.2	NP_001034439.1|NP_001927.3|NP_570629.2	P42658	DPP6_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0562)		20	2318	+	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	641						Silent	SNP	ENST00000377770.3	37	c.1731C>T																																																																																					0.652	DPP6-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000322932.1	NM_130797		4	19	0	0	0	0.184627	0	4	19					T	154667655	C	T	154667655	2	4	65	1	0	0	0	0	0	0	0	1	4730	883	31	2		2	DPP6	7	154667655	Silent	SNP	C	TCGA-EJ-5517-01A-01D-1576-08		154667655	4471008	22	3309											
NKX3-1	4824	broad.mit.edu	37	chr8	23539003	23539003	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aggggccgacaggtacttctGatggctgaacttcctctcca	8	10	11	12	1	2	2	0	2	2	0	4	3	3	2	3	4	2	2	3	4	2	3	rs534833600		TCGA-EJ-5517-01A-01D-1576-08	TCGA-EJ-5517-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	087a7f17-690b-460f-a9ce-ab90d316a64c	3a863bfc-2b84-4a57-8049-f41ebba5ab1c	g.chr8:23539003G>C	ENST00000380871.4	-	2	473	c.436C>G	c.(436-438)Cag>Gag	p.Q146E	NKX3-1_ENST00000523261.1_Missense_Mutation_p.Q71E	NM_006167.3	NP_006158.2	Q99801	NKX31_HUMAN	NK3 homeobox 1	146					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|androgen receptor signaling pathway (GO:0030521)|branching involved in prostate gland morphogenesis (GO:0060442)|branching morphogenesis of an epithelial tube (GO:0048754)|cellular response to drug (GO:0035690)|cellular response to hypoxia (GO:0071456)|cellular response to interleukin-1 (GO:0071347)|cellular response to steroid hormone stimulus (GO:0071383)|cellular response to tumor necrosis factor (GO:0071356)|dorsal aorta development (GO:0035907)|epithelial cell proliferation involved in salivary gland morphogenesis (GO:0060664)|heart development (GO:0007507)|male gonad development (GO:0008584)|metanephros development (GO:0001656)|mitotic cell cycle arrest (GO:0071850)|multicellular organismal development (GO:0007275)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|negative regulation of estrogen receptor binding (GO:0071899)|negative regulation of gene expression (GO:0010629)|negative regulation of insulin-like growth factor receptor signaling pathway (GO:0043569)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of transcription, DNA-templated (GO:0045892)|pharyngeal system development (GO:0060037)|positive regulation of androgen secretion (GO:2000836)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell death (GO:0010942)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of gene expression (GO:0010628)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of response to DNA damage stimulus (GO:2001022)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein kinase B signaling (GO:0043491)|regulation of transcription, DNA-templated (GO:0006355)|response to testosterone (GO:0033574)|salivary gland development (GO:0007431)|somitogenesis (GO:0001756)|steroid hormone mediated signaling pathway (GO:0043401)	intracellular (GO:0005622)|nucleus (GO:0005634)	androgen receptor activity (GO:0004882)|core promoter binding (GO:0001047)|estrogen receptor activity (GO:0030284)|estrogen receptor binding (GO:0030331)|histone deacetylase binding (GO:0042826)|protein kinase activator activity (GO:0030295)|protein self-association (GO:0043621)|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity (GO:0000983)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|transcription regulatory region sequence-specific DNA binding (GO:0000976)	p.Q146E(1)		large_intestine(3)|lung(4)|prostate(5)|skin(2)	14		Prostate(55;0.114)		Colorectal(74;0.0146)|COAD - Colon adenocarcinoma(73;0.061)|BRCA - Breast invasive adenocarcinoma(99;0.0708)		AGGTACTTCTGATGGCTGAAC	0.572																																						ENST00000380871.4																			1	Substitution - Missense(1)	p.Q146E(1)	prostate(1)	large_intestine(3)|lung(4)|prostate(5)|skin(2)	14						c.(436-438)Cag>Gag		NK3 homeobox 1							135	139	138					8																	23539003		2203	4300	6503	SO:0001583	missense	4824				negative regulation of estrogen receptor binding|negative regulation of transcription, DNA-dependent|positive regulation of cell division|positive regulation of mitotic cell cycle|positive regulation of transcription from RNA polymerase II promoter	nucleus	estrogen receptor activity|estrogen receptor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region sequence-specific DNA binding	g.chr8:23539003G>C		CCDS6042.1, CCDS59095.1	8p21.2	2012-03-09	2007-07-09	2002-10-04	ENSG00000167034	ENSG00000167034		"Homeoboxes / ANTP class : NKL subclass"	7838	protein-coding gene	gene with protein product		602041	"NK homeobox (Drosophila), family 3, A", "NK3 transcription factor related, locus 1 (Drosophila)"	NKX3A		9226374	Standard	NM_006167		Approved	NKX3.1, BAPX2	uc011kzx.2	Q99801	OTTHUMG00000097851	ENST00000380871.4:c.436C>G	8.37:g.23539003G>C	ENSP00000370253:p.Gln146Glu					NKX3-1_ENST00000523261.1_Missense_Mutation_p.Q71E	p.Q146E	NM_006167.3	NP_006158.2	Q99801	NKX31_HUMAN		Colorectal(74;0.0146)|COAD - Colon adenocarcinoma(73;0.061)|BRCA - Breast invasive adenocarcinoma(99;0.0708)	2	473	-		Prostate(55;0.114)	146					O15465|Q9H2P4|Q9H2P5|Q9H2P6|Q9H2P7|Q9HBG0	Missense_Mutation	SNP	ENST00000380871.4	37	c.436C>G	CCDS6042.1	.	.	.	.	.	.	.	.	.	.	G	32	5.108162	0.94292	.	.	ENSG00000167034	ENST00000380871;ENST00000300332;ENST00000523261	D;D	0.95588	-3.75;-3.75	6.17	6.17	0.99709	Homeobox, eukaryotic (1);Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.074935	0.53938	D	0.000058	D	0.97707	0.9248	M	0.76838	2.35	0.80722	D	1	D	0.76494	0.999	D	0.91635	0.999	D	0.97869	1.0285	10	0.87932	D	0	.	18.3732	0.90420	0.0:0.0:1.0:0.0	.	146	Q99801	NKX31_HUMAN	E	146;102;71	ENSP00000370253:Q146E;ENSP00000429729:Q71E	ENSP00000300332:Q102E	Q	-	1	0	NKX3-1	23594948	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.841000	0.99482	2.941000	0.99782	0.655000	0.94253	CAG		0.572	NKX3-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215141.2			5	308	0	0	0	0.184627	0	5	308					C	23539003	G	C	23539003	3	2	65	1	0	0	0	0	1	0	0	0	10455	1299	45	5	272	5	NKX3-1	8	23539003	Missense_Mutation	SNP	G	TCGA-EJ-5517-01A-01D-1576-08		23539003	122825019	23	3310											
CSPP1	79848	broad.mit.edu	37	chr8	68007736	68007736	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cgaattaaggaatagaagaaTtattaaaaaagcaaatgaag	23	8	8	2	1	0	3	0	1	0	2	0	5	0	4	0	1	1	1	0	1	12	4			TCGA-EJ-5517-01A-01D-1576-08	TCGA-EJ-5517-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	087a7f17-690b-460f-a9ce-ab90d316a64c	3a863bfc-2b84-4a57-8049-f41ebba5ab1c	g.chr8:68007736T>C	ENST00000262210.5	+	6	750	c.719T>C	c.(718-720)aTt>aCt	p.I240T	CSPP1_ENST00000412460.1_5'UTR	NM_024790.6	NP_079066.5	Q1MSJ5	CSPP1_HUMAN	centrosome and spindle pole associated protein 1	275					positive regulation of cell division (GO:0051781)|positive regulation of cytokinesis (GO:0032467)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|spindle (GO:0005819)|spindle pole (GO:0000922)		p.I240T(1)		NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|prostate(3)|skin(1)|urinary_tract(1)	49	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.00145)|OV - Ovarian serous cystadenocarcinoma(28;0.00589)|all cancers(69;0.0069)|BRCA - Breast invasive adenocarcinoma(89;0.153)			AATAGAAGAATTATTAAAAAA	0.373																																						ENST00000262210.5																			1	Substitution - Missense(1)	p.I240T(1)	prostate(1)	NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|prostate(3)|skin(1)|urinary_tract(1)	49						c.(718-720)aTt>aCt		centrosome and spindle pole associated protein 1							78	72	74					8																	68007736		1832	4082	5914	SO:0001583	missense	79848					centrosome|microtubule|spindle		g.chr8:68007736T>C	AJ583433	CCDS43744.1	8q13.2	2014-02-24			ENSG00000104218	ENSG00000104218			26193	protein-coding gene	gene with protein product		611654				15580290, 24360807	Standard	NM_024790		Approved	FLJ22490, CSPP, JBTS21	uc003xxj.3	Q1MSJ5	OTTHUMG00000164564	ENST00000262210.5:c.719T>C	8.37:g.68007736T>C	ENSP00000262210:p.Ile240Thr					CSPP1_ENST00000412460.1_5'UTR	p.I240T	NM_024790.6	NP_079066.5	Q1MSJ5	CSPP1_HUMAN	Epithelial(68;0.00145)|OV - Ovarian serous cystadenocarcinoma(28;0.00589)|all cancers(69;0.0069)|BRCA - Breast invasive adenocarcinoma(89;0.153)		6	750	+	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	275					A6ND63|Q70F00|Q8TBC1	Missense_Mutation	SNP	ENST00000262210.5	37	c.719T>C	CCDS43744.1	.	.	.	.	.	.	.	.	.	.	T	10.78	1.446516	0.25987	.	.	ENSG00000104218	ENST00000262210;ENST00000389042	T	0.76448	-1.02	5.88	1.75	0.24633	.	5.400680	0.02018	U	0.047545	T	0.69691	0.3139	L	0.43152	1.355	0.09310	N	0.999999	B;B;B	0.27679	0.185;0.152;0.152	B;B;B	0.21708	0.031;0.036;0.036	T	0.50398	-0.8833	10	0.31617	T	0.26	0.5947	5.1292	0.14901	0.1392:0.2278:0.0:0.6329	.	240;275;275	Q1MSJ5-1;Q1MSJ5;F8W7C3	.;CSPP1_HUMAN;.	T	240;275	ENSP00000262210:I240T	ENSP00000262210:I240T	I	+	2	0	CSPP1	68170290	0.007000	0.16637	0.030000	0.17652	0.991000	0.79684	1.195000	0.32186	0.460000	0.27045	0.491000	0.48974	ATT		0.373	CSPP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379254.1	NM_024790		4	161	0	0	0	0.150653	0	4	161					C	68007736	T	C	68007736	3	2	65	1	0	0	0	0	1	0	0	0	3962	1493	52	4	854	4	CSPP1	8	68007736	Missense_Mutation	SNP	T	TCGA-EJ-5517-01A-01D-1576-08	44468733	68007736	78356286	24	3311											
TTC18	118491	broad.mit.edu	37	chr10	75072385	75072385	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggccaatatcccggaacaagCtcaataaacatttggtctga	14	9	8	10	1	2	1	1	1	1	0	3	2	3	2	2	3	3	1	2	3	7	3			TCGA-EJ-5517-01A-01D-1576-08	TCGA-EJ-5517-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	087a7f17-690b-460f-a9ce-ab90d316a64c	3a863bfc-2b84-4a57-8049-f41ebba5ab1c	g.chr10:75072385C>T	ENST00000310715.3	-	11	1259	c.1139G>A	c.(1138-1140)aGc>aAc	p.S380N	TTC18_ENST00000493787.1_5'UTR|TTC18_ENST00000355577.3_5'UTR|TTC18_ENST00000394865.1_Missense_Mutation_p.S380N|TTC18_ENST00000401621.2_Missense_Mutation_p.S380N|TTC18_ENST00000340329.3_Intron	NM_145170.3	NP_660153.3	Q5T0N1	TTC18_HUMAN		380						extracellular vesicular exosome (GO:0070062)		p.S380N(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	Prostate(51;0.0119)					CCGGAACAAGCTCAATAAACA	0.294																																						ENST00000401621.2																			1	Substitution - Missense(1)	p.S380N(1)	prostate(1)	breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						c.(1138-1140)aGc>aAc		tetratricopeptide repeat domain 18							90	102	98					10																	75072385		2203	4300	6503	SO:0001583	missense	118491						binding	g.chr10:75072385C>T																												ENST00000310715.3:c.1139G>A	10.37:g.75072385C>T	ENSP00000310829:p.Ser380Asn					TTC18_ENST00000340329.3_Intron|TTC18_ENST00000394865.1_Missense_Mutation_p.S380N|TTC18_ENST00000355577.3_5'UTR|TTC18_ENST00000493787.1_5'UTR|TTC18_ENST00000310715.3_Missense_Mutation_p.S380N	p.S380N			Q5T0N1	TTC18_HUMAN			11	1259	-	Prostate(51;0.0119)		380					C9JIZ9|Q5T0M4|Q5T0M9|Q5T0N0|Q69YH9|Q8IYZ8|Q8N7D5|Q8NI30|Q8NI31	Missense_Mutation	SNP	ENST00000310715.3	37	c.1139G>A	CCDS7324.3	.	.	.	.	.	.	.	.	.	.	C	15.87	2.961362	0.53400	.	.	ENSG00000156042	ENST00000310715;ENST00000401621;ENST00000355577;ENST00000372928;ENST00000394865	T;T;T	0.35421	1.73;1.73;1.31	4.94	4.94	0.65067	.	0.188538	0.44688	D	0.000423	T	0.54224	0.1845	L	0.56769	1.78	0.46954	D	0.999268	D;P	0.89917	1.0;0.825	D;B	0.87578	0.998;0.222	T	0.48175	-0.9058	10	0.32370	T	0.25	-0.8239	14.0064	0.64465	0.0:1.0:0.0:0.0	.	380;380	Q5T0N1-2;Q5T0N1	.;TTC18_HUMAN	N	380	ENSP00000310829:S380N;ENSP00000384479:S380N;ENSP00000378334:S380N	ENSP00000310829:S380N	S	-	2	0	TTC18	74742391	1.000000	0.71417	0.997000	0.53966	0.580000	0.36256	3.748000	0.55142	2.434000	0.82447	0.585000	0.79938	AGC		0.294	TTC18-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding				9	292	0	0	0	0.307466	0	9	292					T	75072385	C	T	75072385	3	4	65	1	0	0	0	0	1	0	0	0	16682	797	28	3	2298	3	TTC18	10	75072385	Missense_Mutation	SNP	C	TCGA-EJ-5517-01A-01D-1576-08		75072385	60462362	25	3312											
ZBTB3	79842	broad.mit.edu	37	chr11	62519844	62519844	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cgtagtgtgtaagagcatgaGaaggtcttcccacatgtctt	10	12	11	8	1	2	2	0	1	2	2	3	3	3	2	1	1	1	3	1	1	3	4			TCGA-EJ-5517-01A-01D-1576-08	TCGA-EJ-5517-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	087a7f17-690b-460f-a9ce-ab90d316a64c	3a863bfc-2b84-4a57-8049-f41ebba5ab1c	g.chr11:62519844G>C	ENST00000394807.3	-	2	1568	c.1443C>G	c.(1441-1443)ttC>ttG	p.F481L		NM_024784.3	NP_079060.1	Q9H5J0	ZBTB3_HUMAN	zinc finger and BTB domain containing 3	481					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.F481L(1)		breast(4)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(9)|ovary(2)|prostate(2)	24						AAGAGCATGAGAAGGTCTTCC	0.552																																						ENST00000394807.3																			1	Substitution - Missense(1)	p.F481L(1)	prostate(1)	breast(4)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(9)|ovary(2)|prostate(2)	24						c.(1441-1443)ttC>ttG		zinc finger and BTB domain containing 3							79	71	74					11																	62519844		2202	4299	6501	SO:0001583	missense	79842				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr11:62519844G>C	AK027045	CCDS8034.1	11q12.3	2013-01-09				ENSG00000185670		"-", "BTB/POZ domain containing", "Zinc fingers, C2H2-type"	22918	protein-coding gene	gene with protein product							Standard	NM_024784		Approved	FLJ23392	uc001nuz.3	Q9H5J0		ENST00000394807.3:c.1443C>G	11.37:g.62519844G>C	ENSP00000378286:p.Phe481Leu						p.F481L	NM_024784.3	NP_079060.1	Q9H5J0	ZBTB3_HUMAN			2	1568	-			481						Missense_Mutation	SNP	ENST00000394807.3	37	c.1443C>G	CCDS8034.1	.	.	.	.	.	.	.	.	.	.	G	16.58	3.163839	0.57476	.	.	ENSG00000185670	ENST00000394807	T	0.12879	2.64	4.72	3.81	0.43845	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.30665	0.0772	M	0.65677	2.01	0.34109	D	0.662715	D	0.76494	0.999	D	0.80764	0.994	T	0.43766	-0.9371	10	0.87932	D	0	.	7.3941	0.26926	0.1979:0.0:0.8021:0.0	.	481	Q9H5J0	ZBTB3_HUMAN	L	481	ENSP00000378286:F481L	ENSP00000378286:F481L	F	-	3	2	ZBTB3	62276420	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	3.319000	0.51983	0.985000	0.38656	0.561000	0.74099	TTC		0.552	ZBTB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395342.1	NM_024784		16	106	0	0	0	0.539581	0	16	106					C	62519844	G	C	62519844	3	2	65	1	0	0	0	0	1	0	0	0	17531	933	33	5	285	5	ZBTB3	11	62519844	Missense_Mutation	SNP	G	TCGA-EJ-5517-01A-01D-1576-08		62519844	72486672	26	3313											
TAF1D	79101	broad.mit.edu	37	chr11	93471531	93471531	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atggtattggttcaaaagatGagtcacttgatgaatcactt	13	14	9	5	0	3	4	3	3	0	1	3	4	3	4	0	2	0	2	0	2	4	5			TCGA-EJ-5517-01A-01D-1576-08	TCGA-EJ-5517-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	087a7f17-690b-460f-a9ce-ab90d316a64c	3a863bfc-2b84-4a57-8049-f41ebba5ab1c	g.chr11:93471531G>A	ENST00000448108.2	-	3	853	c.203C>T	c.(202-204)tCa>tTa	p.S68L	TAF1D_ENST00000546088.1_5'Flank	NM_024116.3	NP_077021.1	Q9H5J8	TAF1D_HUMAN	TATA box binding protein (TBP)-associated factor, RNA polymerase I, D, 41kDa	68					gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)	microtubule organizing center (GO:0005815)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.S68L(1)		large_intestine(1)|lung(3)|prostate(1)|skin(2)	7						TTCAAAAGATGAGTCACTTGA	0.363																																						ENST00000448108.2																			1	Substitution - Missense(1)	p.S68L(1)	prostate(1)	large_intestine(1)|lung(3)|prostate(1)|skin(2)	7						c.(202-204)tCa>tTa		TATA box binding protein (TBP)-associated factor, RNA polymerase I, D, 41kDa							77	79	78					11																	93471531		2200	4298	6498	SO:0001583	missense	79101				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	g.chr11:93471531G>A		CCDS8293.1	11q21	2012-05-30	2008-09-30	2008-09-30	ENSG00000166012	ENSG00000166012			28759	protein-coding gene	gene with protein product		612823	"Josephin domain containing 3"	JOSD3		15520167, 17318177	Standard	NM_024116		Approved	MGC5306, TAF(I)41	uc001pec.3	Q9H5J8	OTTHUMG00000167451	ENST00000448108.2:c.203C>T	11.37:g.93471531G>A	ENSP00000410409:p.Ser68Leu						p.S68L	NM_024116.3	NP_077021.1	Q9H5J8	TAF1D_HUMAN			3	853	-			68					Q6I9Y6	Missense_Mutation	SNP	ENST00000448108.2	37	c.203C>T	CCDS8293.1	.	.	.	.	.	.	.	.	.	.	G	12.55	1.971915	0.34754	.	.	ENSG00000166012	ENST00000448108	.	.	.	5.45	5.45	0.79879	.	0.089238	0.48767	D	0.000171	T	0.77329	0.4114	M	0.68952	2.095	0.49299	D	0.999774	D	0.89917	1.0	D	0.85130	0.997	T	0.78763	-0.2077	9	0.72032	D	0.01	-23.2453	15.1536	0.72723	0.0:0.0:1.0:0.0	.	68	Q9H5J8	TAF1D_HUMAN	L	68	.	ENSP00000314971:S68L	S	-	2	0	TAF1D	93111179	0.999000	0.42202	0.717000	0.30585	0.767000	0.43475	2.884000	0.48562	2.716000	0.92895	0.655000	0.94253	TCA		0.363	TAF1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394662.2	NM_024116		93	178	0	0	0	0.870114	0	93	178					A	93471531	G	A	93471531	3	1	65	1	0	0	0	0	1	0	0	0	15519	1294	45	3	649	3	TAF1D	11	93471531	Missense_Mutation	SNP	G	TCGA-EJ-5517-01A-01D-1576-08	30951687	93471531	41534985	27	3314											
KRT6C	286887	broad.mit.edu	37	chr12	52864359	52864359	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgatctcagcaatctcctgcTtggtgttgcgcaggtcgtcc	5	13	11	12	2	2	1	1	1	2	0	6	1	3	1	2	2	3	4	2	2	1	2			TCGA-EJ-5517-01A-01D-1576-08	TCGA-EJ-5517-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	087a7f17-690b-460f-a9ce-ab90d316a64c	3a863bfc-2b84-4a57-8049-f41ebba5ab1c	g.chr12:52864359T>A	ENST00000252250.6	-	6	1180	c.1133A>T	c.(1132-1134)aAg>aTg	p.K378M		NM_173086.4	NP_775109.2	P48668	K2C6C_HUMAN	keratin 6C	378	Coil 2.|Rod.				intermediate filament cytoskeleton organization (GO:0045104)	extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)	p.K378M(1)		cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|prostate(2)|skin(2)	23				BRCA - Breast invasive adenocarcinoma(357;0.0828)		AATCTCCTGCTTGGTGTTGCG	0.552																																						ENST00000252250.6																			1	Substitution - Missense(1)	p.K378M(1)	prostate(1)	cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|prostate(2)|skin(2)	23						c.(1132-1134)aAg>aTg		keratin 6C							158	126	137					12																	52864359		2203	4297	6500	SO:0001583	missense	286887				cytoskeleton organization	keratin filament	structural molecule activity	g.chr12:52864359T>A	L42611	CCDS8829.1	12q13.13	2013-01-16	2006-07-17	2006-07-17	ENSG00000170465	ENSG00000170465		"-", "Intermediate filaments type II, keratins (basic)"	20406	protein-coding gene	gene with protein product		612315	"keratin 6E"	KRT6E		7543104, 16831889	Standard	NM_173086		Approved		uc001sal.4	P48668	OTTHUMG00000169596	ENST00000252250.6:c.1133A>T	12.37:g.52864359T>A	ENSP00000252250:p.Lys378Met						p.K378M	NM_173086.4	NP_775109.2	P48668	K2C6C_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.0828)	6	1180	-			378			Coil 2.|Rod.		A1L4L5|P48666|Q2TAZ9|Q7RTN9	Missense_Mutation	SNP	ENST00000252250.6	37	c.1133A>T	CCDS8829.1	.	.	.	.	.	.	.	.	.	.	T	19.46	3.831414	0.71258	.	.	ENSG00000170465	ENST00000252250;ENST00000411979	D	0.91068	-2.78	3.5	3.5	0.40072	Filament (1);	0.000000	0.64402	D	0.000006	D	0.97309	0.9120	H	0.99415	4.555	0.45046	D	0.998069	D	0.89917	1.0	D	0.87578	0.998	D	0.97794	1.0240	10	0.87932	D	0	.	12.4636	0.55745	0.0:0.0:0.0:1.0	.	378	P48668	K2C6C_HUMAN	M	378;363	ENSP00000252250:K378M	ENSP00000252250:K378M	K	-	2	0	KRT6C	51150626	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.259000	0.51515	1.575000	0.49775	0.368000	0.22195	AAG		0.552	KRT6C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404976.1	NM_173086		18	181	0	0	0	0.557998	0	18	181					A	52864359	T	A	52864359	3	1	65	1	0	0	0	0	1	0	0	0	8482	1609	56	5	577	5	KRT6C	12	52864359	Missense_Mutation	SNP	T	TCGA-EJ-5517-01A-01D-1576-08		52864359	80987536	28	3315											
SLC6A15	55117	broad.mit.edu	37	chr12	85266407	85266407	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagctcttcttcaattttacAggaattgagatgaagagcag	13	13	9	6	0	3	3	1	2	2	2	3	5	3	4	0	1	3	2	0	1	5	6			TCGA-EJ-5517-01A-01D-1576-08	TCGA-EJ-5517-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	087a7f17-690b-460f-a9ce-ab90d316a64c	3a863bfc-2b84-4a57-8049-f41ebba5ab1c	g.chr12:85266407A>T	ENST00000266682.5	-	8	1817	c.1276T>A	c.(1276-1278)Tgt>Agt	p.C426S	SLC6A15_ENST00000309283.7_Missense_Mutation_p.C134S|SLC6A15_ENST00000551388.1_5'Flank|SLC6A15_ENST00000552192.1_Missense_Mutation_p.C319S	NM_182767.5	NP_877499.1	Q9H2J7	S6A15_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 15	426					amino acid transport (GO:0006865)|ion transport (GO:0006811)|leucine transport (GO:0015820)|neurotransmitter transport (GO:0006836)|neutral amino acid transport (GO:0015804)|proline transport (GO:0015824)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neurotransmitter transporter activity (GO:0005326)|neurotransmitter:sodium symporter activity (GO:0005328)|proline:sodium symporter activity (GO:0005298)	p.C426S(1)		kidney(1)|large_intestine(18)|lung(15)|ovary(1)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	44						TCAATTTTACAGGAATTGAGA	0.318																																						ENST00000266682.5																			1	Substitution - Missense(1)	p.C426S(1)	prostate(1)	kidney(1)|large_intestine(18)|lung(15)|ovary(1)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	44						c.(1276-1278)Tgt>Agt		solute carrier family 6 (neutral amino acid transporter), member 15							60	64	62					12																	85266407		2203	4298	6501	SO:0001583	missense	55117				cellular nitrogen compound metabolic process|leucine transport|proline transport	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity	g.chr12:85266407A>T	AF265577	CCDS9026.1, CCDS9027.1, CCDS53816.1	12q21.31	2013-07-15	2008-09-02		ENSG00000072041	ENSG00000072041		"Solute carriers"	13621	protein-coding gene	gene with protein product	"homolog of rat orphan transporter v7-3", "sodium/chloride dependent neurotransmitter transporter Homo sapiens orphan neurotransmitter transporter NTT7"	607971	"solute carrier family 6 (neurotransmitter transporter), member 15"			10471414, 11112352, 16185194	Standard	NM_182767		Approved	hv7-3, NTT73, FLJ10316, V7-3, SBAT1	uc001szv.4	Q9H2J7	OTTHUMG00000169742	ENST00000266682.5:c.1276T>A	12.37:g.85266407A>T	ENSP00000266682:p.Cys426Ser					SLC6A15_ENST00000309283.7_Missense_Mutation_p.C134S|SLC6A15_ENST00000552192.1_Missense_Mutation_p.C319S	p.C426S	NM_182767.5	NP_877499.1	Q9H2J7	S6A15_HUMAN			8	1817	-			426					A8K592|B7Z2P7|E7ESJ5|Q9H9F5	Missense_Mutation	SNP	ENST00000266682.5	37	c.1276T>A	CCDS9026.1	.	.	.	.	.	.	.	.	.	.	A	16.15	3.041193	0.55003	.	.	ENSG00000072041	ENST00000309283;ENST00000266682;ENST00000318721;ENST00000552192;ENST00000551818	T;T;T	0.80033	-1.33;-0.82;-1.02	5.34	4.18	0.49190	.	0.235184	0.52532	D	0.000061	D	0.85423	0.5693	M	0.93016	3.37	0.80722	D	1	B;B	0.28512	0.214;0.021	B;B	0.34180	0.168;0.177	D	0.84374	0.0545	10	0.87932	D	0	.	11.53	0.50604	0.8655:0.0:0.0:0.1345	.	134;426	F8WJN6;Q9H2J7	.;S6A15_HUMAN	S	134;426;142;319;134	ENSP00000311645:C134S;ENSP00000266682:C426S;ENSP00000450145:C319S	ENSP00000266682:C426S	C	-	1	0	SLC6A15	83790538	1.000000	0.71417	0.974000	0.42286	0.955000	0.61496	6.561000	0.73955	0.827000	0.34685	0.460000	0.39030	TGT		0.318	SLC6A15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405678.1	NM_018057, NM_182767		4	159	0	0	0	0.217242	0	4	159					T	85266407	A	T	85266407	3	4	65	1	0	0	0	0	1	0	0	0	14678	188	7	5	936	5	SLC6A15	12	85266407	Missense_Mutation	SNP	A	TCGA-EJ-5517-01A-01D-1576-08	32402048	85266407	48585488	29	3316											
TPCN1	53373	broad.mit.edu	37	chr12	113733848	113733848	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccgccgcccagcagcccccAggcagccgccagcgctccca	6	1	10	24	4	0	0	0	0	0	0	1	0	1	0	8	1	4	3	8	1	0	0			TCGA-EJ-5517-01A-01D-1576-08	TCGA-EJ-5517-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	087a7f17-690b-460f-a9ce-ab90d316a64c	3a863bfc-2b84-4a57-8049-f41ebba5ab1c	g.chr12:113733848A>T	ENST00000335509.6	+	28	2732	c.2418A>T	c.(2416-2418)ccA>ccT	p.P806P	TPCN1_ENST00000392569.4_Silent_p.P738P|TPCN1_ENST00000541517.1_Silent_p.P878P|TPCN1_ENST00000550785.1_Silent_p.P878P	NM_017901.4	NP_060371.2	Q9ULQ1	TPC1_HUMAN	two pore segment channel 1	806					calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|membrane depolarization during action potential (GO:0086010)|transmembrane transport (GO:0055085)	endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)|NAADP-sensitive calcium-release channel activity (GO:0072345)|voltage-gated calcium channel activity (GO:0005245)	p.P806P(1)		cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(1)	40						AGCAGCCCCCAGGCAGCCGCC	0.597																																						ENST00000550785.1																			1	Substitution - coding silent(1)	p.P806P(1)	prostate(1)	cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(1)	40						c.(2632-2634)ccA>ccT		two pore segment channel 1							28	34	32					12																	113733848		2203	4300	6503	SO:0001819	synonymous_variant	53373					endosome membrane|integral to membrane|lysosomal membrane	NAADP-sensitive calcium-release channel activity|voltage-gated ion channel activity	g.chr12:113733848A>T	AB032995	CCDS31908.1, CCDS44985.1	12q24.21	2011-07-05			ENSG00000186815	ENSG00000186815		"Voltage-gated ion channels / Two-pore channels"	18182	protein-coding gene	gene with protein product		609666				10574461, 10753632, 16382101	Standard	XM_005253905		Approved	KIAA1169, FLJ20612, TPC1	uc001tux.3	Q9ULQ1	OTTHUMG00000169625	ENST00000335509.6:c.2418A>T	12.37:g.113733848A>T						TPCN1_ENST00000392569.4_Silent_p.P738P|TPCN1_ENST00000335509.6_Silent_p.P806P|TPCN1_ENST00000541517.1_Silent_p.P878P	p.P878P	NM_001143819.1	NP_001137291.1	Q9ULQ1	TPC1_HUMAN			29	2803	+			806					A7E258|Q86XS9|Q8NC20	Silent	SNP	ENST00000335509.6	37	c.2634A>T	CCDS31908.1																																																																																				0.597	TPCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405156.3	NM_017901		23	41	0	0	0	0.667858	0	23	41					T	113733848	A	T	113733848	2	4	65	1	0	0	0	0	0	0	0	1	16392	175	7	5		5	TPCN1	12	113733848	Silent	SNP	A	TCGA-EJ-5517-01A-01D-1576-08	28467441	113733848	20118047	30	3317											
TMEM132B	114795	broad.mit.edu	37	chr12	126068419	126068419	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	caccgaggttttgaacactgCcattctcactggaaagcctg	10	10	9	12	1	1	1	1	1	1	0	2	3	1	2	3	2	3	1	3	2	2	3			TCGA-EJ-5517-01A-01D-1576-08	TCGA-EJ-5517-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	087a7f17-690b-460f-a9ce-ab90d316a64c	3a863bfc-2b84-4a57-8049-f41ebba5ab1c	g.chr12:126068419C>T	ENST00000299308.3	+	5	1309	c.1301C>T	c.(1300-1302)gCc>gTc	p.A434V		NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN	transmembrane protein 132B	434						integral component of membrane (GO:0016021)		p.A434V(1)		NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		TTGAACACTGCCATTCTCACT	0.542																																						ENST00000299308.3																			1	Substitution - Missense(1)	p.A434V(1)	prostate(1)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107						c.(1300-1302)gCc>gTc		transmembrane protein 132B							245	238	240					12																	126068419		1981	4142	6123	SO:0001583	missense	114795					integral to membrane		g.chr12:126068419C>T	AB067493	CCDS41859.1, CCDS66501.1	12q24.31	2006-03-02							29397	protein-coding gene	gene with protein product						11572484	Standard	NM_001286219		Approved	KIAA1906, KIAA1786	uc001uhe.1	Q14DG7		ENST00000299308.3:c.1301C>T	12.37:g.126068419C>T	ENSP00000299308:p.Ala434Val						p.A434V	NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)	5	1309	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		434					A2RRG8|Q8NA73|Q96JN9|Q96PY1	Missense_Mutation	SNP	ENST00000299308.3	37	c.1301C>T	CCDS41859.1	.	.	.	.	.	.	.	.	.	.	C	19.12	3.765283	0.69878	.	.	ENSG00000139364	ENST00000299308	T	0.32753	1.44	4.83	4.83	0.62350	.	0.000000	0.36591	U	0.002509	T	0.58004	0.2092	M	0.77616	2.38	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.64453	-0.6404	10	0.87932	D	0	.	16.7045	0.85368	0.0:1.0:0.0:0.0	.	434	Q14DG7	T132B_HUMAN	V	434	ENSP00000299308:A434V	ENSP00000299308:A434V	A	+	2	0	TMEM132B	124634372	1.000000	0.71417	0.996000	0.52242	0.147000	0.21601	6.698000	0.74608	2.218000	0.71995	0.655000	0.94253	GCC		0.542	TMEM132B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000400043.1	NM_052907		8	476	0	0	0	0.27861	0	8	476					T	126068419	C	T	126068419	3	4	65	1	0	0	0	0	1	0	0	0	16043	739	26	3	1319	3	TMEM132B	12	126068419	Missense_Mutation	SNP	C	TCGA-EJ-5517-01A-01D-1576-08	12334571	126068419	7783476	31	3318											
SLC28A1	9154	broad.mit.edu	37	chr15	85447467	85447467	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cctgctcaaagcatcattgcGcagtgagtgctagttgtggg	8	11	13	9	1	2	1	2	1	0	0	2	1	2	1	1	1	4	5	1	1	2	3			TCGA-EJ-5517-01A-01D-1576-08	TCGA-EJ-5517-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	087a7f17-690b-460f-a9ce-ab90d316a64c	3a863bfc-2b84-4a57-8049-f41ebba5ab1c	g.chr15:85447467G>T	ENST00000286749.3	+	6	691	c.601G>T	c.(601-603)Gca>Tca	p.A201S	SLC28A1_ENST00000394573.1_Missense_Mutation_p.A201S|SLC28A1_ENST00000537703.1_Missense_Mutation_p.A123S|SLC28A1_ENST00000537624.1_Missense_Mutation_p.A201S|SLC28A1_ENST00000538177.1_Missense_Mutation_p.A201S|SLC28A1_ENST00000537216.1_Missense_Mutation_p.A201S			O00337	S28A1_HUMAN	solute carrier family 28 (concentrative nucleoside transporter), member 1	201					nucleobase-containing compound metabolic process (GO:0006139)|nucleoside transmembrane transport (GO:1901642)|nucleoside transport (GO:0015858)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	nucleoside binding (GO:0001882)|nucleoside transmembrane transporter activity (GO:0005337)|nucleoside:sodium symporter activity (GO:0005415)	p.A201S(1)		breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	41			BRCA - Breast invasive adenocarcinoma(143;0.0587)		Gemcitabine(DB00441)|Stavudine(DB00649)|Zidovudine(DB00495)	GCATCATTGCGCAGTGAGTGC	0.582																																						ENST00000394573.1																			1	Substitution - Missense(1)	p.A201S(1)	prostate(1)	breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	41						c.(601-603)Gca>Tca		solute carrier family 28 (concentrative nucleoside transporter), member 1							130	116	120					15																	85447467		2203	4299	6502	SO:0001583	missense	9154				nucleobase, nucleoside and nucleotide metabolic process	integral to plasma membrane|membrane fraction	nucleoside binding	g.chr15:85447467G>T	U62967	CCDS10334.1, CCDS10335.1, CCDS73777.1	15q25.3	2013-07-17	2013-07-17		ENSG00000156222	ENSG00000156222		"Solute carriers"	11001	protein-coding gene	gene with protein product		606207	"solute carrier family 28 (sodium-coupled nucleoside transporter), member 1"			9124315	Standard	NM_004213		Approved	CNT1	uc002blg.3	O00337	OTTHUMG00000148668	ENST00000286749.3:c.601G>T	15.37:g.85447467G>T	ENSP00000286749:p.Ala201Ser					SLC28A1_ENST00000537624.1_Missense_Mutation_p.A201S|SLC28A1_ENST00000538177.1_Missense_Mutation_p.A201S|SLC28A1_ENST00000537703.1_Missense_Mutation_p.A123S|SLC28A1_ENST00000286749.3_Missense_Mutation_p.A201S|SLC28A1_ENST00000537216.1_Missense_Mutation_p.A201S	p.A201S	NM_004213.3	NP_004204.3	O00337	S28A1_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0587)		7	803	+			201					A0AV42|A8K7I2|O00335|O00336|Q5U5S6|Q5U648|Q9UEZ9	Missense_Mutation	SNP	ENST00000286749.3	37	c.601G>T	CCDS10334.1	.	.	.	.	.	.	.	.	.	.	G	8.210	0.800027	0.16397	.	.	ENSG00000156222	ENST00000537216;ENST00000538177;ENST00000537624;ENST00000286749;ENST00000394573;ENST00000537703	T;T;T;T;T;T	0.15718	2.4;2.4;2.4;2.4;2.4;2.4	4.38	2.38	0.29361	Na dependent nucleoside transporter (1);	0.369737	0.29602	N	0.011683	T	0.21718	0.0523	M	0.62209	1.925	0.53688	D	0.99997	B;B;P;B;B	0.44195	0.247;0.025;0.828;0.025;0.114	B;B;P;B;B	0.48654	0.125;0.037;0.585;0.069;0.125	T	0.01532	-1.1331	10	0.46703	T	0.11	-0.1544	5.4931	0.16787	0.1042:0.0:0.7013:0.1945	.	201;201;201;123;201	B7Z533;F5H560;B7Z3L6;B7Z3M4;O00337	.;.;.;.;S28A1_HUMAN	S	201;201;201;201;201;123	ENSP00000440546:A201S;ENSP00000443752:A201S;ENSP00000444700:A201S;ENSP00000286749:A201S;ENSP00000378074:A201S;ENSP00000443764:A123S	ENSP00000286749:A201S	A	+	1	0	SLC28A1	83248471	0.968000	0.33430	0.604000	0.28916	0.010000	0.07245	2.055000	0.41345	1.085000	0.41206	0.650000	0.86243	GCA		0.582	SLC28A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000308998.2			5	229	1	0	0.184627	0.184627	0.198303	5	229					T	85447467	G	T	85447467	3	4	65	1	0	0	0	0	1	0	0	0	14531	1087	38	5	690	5	SLC28A1	15	85447467	Missense_Mutation	SNP	G	TCGA-EJ-5517-01A-01D-1576-08		85447467	17083925	32	3319											
CAPNS2	84290	broad.mit.edu	37	chr16	55601019	55601019	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacaaagatcttaagactgaCggttttagtcttgacacctg	12	12	8	9	1	2	4	0	2	2	2	2	4	2	4	1	1	0	1	1	1	3	4			TCGA-EJ-5517-01A-01D-1576-08	TCGA-EJ-5517-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	087a7f17-690b-460f-a9ce-ab90d316a64c	3a863bfc-2b84-4a57-8049-f41ebba5ab1c	g.chr16:55601019C>T	ENST00000457326.2	+	1	436	c.351C>T	c.(349-351)gaC>gaT	p.D117D	LPCAT2_ENST00000262134.5_Intron|LPCAT2_ENST00000565056.1_Intron	NM_032330.1	NP_115706.1	Q96L46	CPNS2_HUMAN	calpain, small subunit 2	117					proteolysis (GO:0006508)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)	p.D117D(1)		central_nervous_system(1)|large_intestine(1)|lung(3)|prostate(2)	7						TTAAGACTGACGGTTTTAGTC	0.448																																						ENST00000457326.2																			1	Substitution - coding silent(1)	p.D117D(1)	prostate(1)	central_nervous_system(1)|large_intestine(1)|lung(3)|prostate(2)	7						c.(349-351)gaC>gaT		calpain, small subunit 2							126	125	125					16																	55601019		1959	4181	6140	SO:0001819	synonymous_variant	84290					cytoplasm|plasma membrane	calcium ion binding	g.chr16:55601019C>T	AY052551	CCDS54010.1	16q12.2	2013-01-10						"EF-hand domain containing"	16371	protein-coding gene	gene with protein product						11853546	Standard	NM_032330		Approved	MGC12536, MGC14804	uc002eid.1	Q96L46		ENST00000457326.2:c.351C>T	16.37:g.55601019C>T						LPCAT2_ENST00000262134.5_Intron|LPCAT2_ENST00000565056.1_Intron	p.D117D	NM_032330.1	NP_115706.1	Q96L46	CPNS2_HUMAN			1	436	+			117					Q9BPV4	Silent	SNP	ENST00000457326.2	37	c.351C>T	CCDS54010.1																																																																																				0.448	CAPNS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396391.1	NM_032330		7	333	0	0	0	0.248553	0	7	333					T	55601019	C	T	55601019	2	4	65	1	0	0	0	0	0	0	0	1	2634	535	19	1		1	CAPNS2	16	55601019	Silent	SNP	C	TCGA-EJ-5517-01A-01D-1576-08		55601019	34753734	33	3320											
FOXA3	3171	broad.mit.edu	37	chr19	46375689	46375689	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aagatgctgaccttgagtgaAatctaccagtggatcatgga	13	10	11	7	0	2	4	1	3	1	1	2	6	2	6	2	2	2	1	2	2	3	2			TCGA-EJ-5517-01A-01D-1576-08	TCGA-EJ-5517-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	087a7f17-690b-460f-a9ce-ab90d316a64c	3a863bfc-2b84-4a57-8049-f41ebba5ab1c	g.chr19:46375689A>T	ENST00000302177.2	+	2	623	c.426A>T	c.(424-426)gaA>gaT	p.E142D		NM_004497.2	NP_004488.2	P55318	FOXA3_HUMAN	forkhead box A3	142					cell differentiation (GO:0030154)|cellular glucose homeostasis (GO:0001678)|cellular response to starvation (GO:0009267)|chromatin modification (GO:0016568)|endocrine pancreas development (GO:0031018)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)	p.E142D(1)		breast(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(2)|pancreas(1)|prostate(1)	13		Ovarian(192;0.0308)|all_neural(266;0.0476)		OV - Ovarian serous cystadenocarcinoma(262;0.00453)|GBM - Glioblastoma multiforme(486;0.0518)|Epithelial(262;0.236)		CCTTGAGTGAAATCTACCAGT	0.567																																						ENST00000302177.2																			1	Substitution - Missense(1)	p.E142D(1)	prostate(1)	breast(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(2)|pancreas(1)|prostate(1)	13						c.(424-426)gaA>gaT		forkhead box A3							122	117	119					19																	46375689		2203	4300	6503	SO:0001583	missense	3171				brain development|cellular glucose homeostasis|cellular response to starvation|chromatin modification|embryo development|endocrine pancreas development|negative regulation of cell proliferation|neural plate anterior/posterior regionalization|neuron fate specification|positive regulation of hepatocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|spermatogenesis	transcription factor complex	DNA bending activity|double-stranded DNA binding|protein domain specific binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding	g.chr19:46375689A>T	L12141	CCDS12677.1	19q13.32	2014-09-11		2002-09-20	ENSG00000170608	ENSG00000170608		"Forkhead boxes"	5023	protein-coding gene	gene with protein product		602295	"hepatocyte nuclear factor 3, gamma"	HNF3G		9119385	Standard	NM_004497		Approved		uc002pdr.3	P55318	OTTHUMG00000182484	ENST00000302177.2:c.426A>T	19.37:g.46375689A>T	ENSP00000304004:p.Glu142Asp						p.E142D	NM_004497.2	NP_004488.2	P55318	FOXA3_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00453)|GBM - Glioblastoma multiforme(486;0.0518)|Epithelial(262;0.236)	2	623	+		Ovarian(192;0.0308)|all_neural(266;0.0476)	142					A9LYI5|Q53F16|Q9UMW9	Missense_Mutation	SNP	ENST00000302177.2	37	c.426A>T	CCDS12677.1	.	.	.	.	.	.	.	.	.	.	A	17.18	3.323839	0.60634	.	.	ENSG00000170608	ENST00000302177	D	0.95821	-3.82	4.57	2.42	0.29668	Winged helix-turn-helix transcription repressor DNA-binding (1);Transcription factor, fork head (4);	0.000000	0.85682	D	0.000000	D	0.94460	0.8217	N	0.25380	0.74	0.80722	D	1	P	0.52170	0.951	D	0.70716	0.97	D	0.92391	0.5921	10	0.56958	D	0.05	.	7.6076	0.28112	0.2203:0.0:0.7797:0.0	.	142	P55318	FOXA3_HUMAN	D	142	ENSP00000304004:E142D	ENSP00000304004:E142D	E	+	3	2	FOXA3	51067529	1.000000	0.71417	1.000000	0.80357	0.635000	0.38103	3.695000	0.54749	0.504000	0.28082	-0.479000	0.04858	GAA		0.567	FOXA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461682.1			18	257	0	0	0	0.557998	0	18	257					T	46375689	A	T	46375689	3	4	65	1	0	0	0	0	1	0	0	0	5991	11	1	5	432	5	FOXA3	19	46375689	Missense_Mutation	SNP	A	TCGA-EJ-5517-01A-01D-1576-08		46375689	12753294	34	3321											
ZNF534	147658	broad.mit.edu	37	chr19	52937267	52937267	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caggaggagtggaaatgcctGgaccctgggcagaaagcttt	11	7	15	8	0	0	1	0	0	0	1	0	5	0	5	2	5	2	2	2	5	2	1			TCGA-EJ-5517-01A-01D-1576-08	TCGA-EJ-5517-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	087a7f17-690b-460f-a9ce-ab90d316a64c	3a863bfc-2b84-4a57-8049-f41ebba5ab1c	g.chr19:52937267G>A	ENST00000332323.6	+	2	136	c.75G>A	c.(73-75)ctG>ctA	p.L25L	ZNF534_ENST00000433050.1_Silent_p.L25L|ZNF534_ENST00000432303.2_Silent_p.L25L|ZNF534_ENST00000301085.4_Silent_p.L25L	NM_001143939.1	NP_001137411.1	Q76KX8	ZN534_HUMAN	zinc finger protein 534	25	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.L25L(2)		central_nervous_system(1)|lung(1)|prostate(1)|skin(1)	4						GGAAATGCCTGGACCCTGGGC	0.478																																						ENST00000332323.6																			2	Substitution - coding silent(2)	p.L25L(2)	prostate(2)	central_nervous_system(1)|lung(1)|prostate(1)|skin(1)	4						c.(73-75)ctG>ctA		zinc finger protein 534							121	112	115					19																	52937267		1568	3582	5150	SO:0001819	synonymous_variant	147658				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52937267G>A	AK058073	CCDS46165.1, CCDS46166.1	19q13.41	2013-01-08	2004-02-06	2004-02-11	ENSG00000198633	ENSG00000198633		"Zinc fingers, C2H2-type", "-"	26337	protein-coding gene	gene with protein product			"KRAB domain only 3"	KRBO3			Standard	NM_001143938		Approved	FLJ25344	uc002pzk.3	Q76KX8	OTTHUMG00000156493	ENST00000332323.6:c.75G>A	19.37:g.52937267G>A						ZNF534_ENST00000432303.2_Silent_p.L25L|ZNF534_ENST00000433050.1_Silent_p.L25L|ZNF534_ENST00000301085.4_Silent_p.L25L	p.L25L	NM_001143939.1	NP_001137411.1	Q76KX8	ZN534_HUMAN			2	136	+			25			KRAB.		Q76KX9	Silent	SNP	ENST00000332323.6	37	c.75G>A	CCDS46165.1																																																																																				0.478	ZNF534-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460877.1	NM_182512		57	116	0	0	0	0.870114	0	57	116					A	52937267	G	A	52937267	2	1	65	1	0	0	0	0	0	0	0	1	17970	1335	47	3		3	ZNF534	19	52937267	Silent	SNP	G	TCGA-EJ-5517-01A-01D-1576-08	6561578	52937267	6191716	35	3322											
FOXA2	3170	broad.mit.edu	37	chr20	22562683	22562683	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	attttgtggggttggtggtgGtggtggctgtggtggtgctg	1	16	22	2	0	0	0	0	0	0	0	0	0	0	0	0	9	1	3	0	9	0	3			TCGA-EJ-5517-01A-01D-1576-08	TCGA-EJ-5517-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	087a7f17-690b-460f-a9ce-ab90d316a64c	3a863bfc-2b84-4a57-8049-f41ebba5ab1c	g.chr20:22562683G>C	ENST00000377115.4	-	3	1360	c.1179C>G	c.(1177-1179)caC>caG	p.H393Q	FOXA2_ENST00000419308.2_Missense_Mutation_p.H399Q	NM_153675.2	NP_710141.1	Q9Y261	FOXA2_HUMAN	forkhead box A2	393	Transactivation domain 2. {ECO:0000250}.				adult locomotory behavior (GO:0008344)|cell development (GO:0048468)|cell differentiation in hindbrain (GO:0021533)|cell fate specification (GO:0001708)|chromatin modification (GO:0016568)|connective tissue development (GO:0061448)|dopaminergic neuron differentiation (GO:0071542)|dorsal/ventral neural tube patterning (GO:0021904)|ectoderm formation (GO:0001705)|endocrine pancreas development (GO:0031018)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|in utero embryonic development (GO:0001701)|lung epithelial cell differentiation (GO:0060487)|negative regulation of detection of glucose (GO:2000971)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of glucokinase activity (GO:0033132)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter by glucose (GO:0000433)|neuron fate specification (GO:0048665)|positive regulation of cell-cell adhesion mediated by cadherin (GO:2000049)|positive regulation of embryonic development (GO:0040019)|positive regulation of gastrulation (GO:2000543)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter by glucose (GO:0000432)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of transcription, DNA-templated (GO:0045893)|primitive streak formation (GO:0090009)|regulation of blood coagulation (GO:0030193)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|regulation of steroid metabolic process (GO:0019218)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase II promoter involved in detection of glucose (GO:2000976)|response to interleukin-6 (GO:0070741)|signal transduction involved in regulation of gene expression (GO:0023019)|somite rostral/caudal axis specification (GO:0032525)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)	p.H393Q(1)		breast(1)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(1)|lung(3)|ovary(2)|prostate(2)|urinary_tract(1)	22	Lung NSC(19;0.188)					GTtggtggtggtggtggctgt	0.617																																						ENST00000419308.2																			1	Substitution - Missense(1)	p.H393Q(1)	prostate(1)	breast(1)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(1)|lung(3)|ovary(2)|prostate(2)|urinary_tract(1)	22						c.(1177-1179)caC>caG		forkhead box A2							148	144	145					20																	22562683		2203	4300	6503	SO:0001583	missense	3170				cell differentiation in hindbrain|central nervous system myelin formation|chromatin modification|dorsal/ventral neural tube patterning|ectoderm formation|endocrine pancreas development|endoderm development|epithelial tube branching involved in lung morphogenesis|in utero embryonic development|lung epithelial cell differentiation|negative regulation of neuron differentiation|neuron fate specification|oligodendrocyte cell fate commitment|positive regulation of embryonic development|positive regulation of gastrulation|positive regulation of neuron differentiation|primitive streak formation|regulation of blood coagulation|regulation of sequence-specific DNA binding transcription factor activity|response to interleukin-6	cytoplasm|transcription factor complex	DNA bending activity|double-stranded DNA binding|protein domain specific binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chr20:22562683G>C	AF147787	CCDS13147.1, CCDS46585.1	20p11	2008-04-10		2002-09-20	ENSG00000125798	ENSG00000125798		"Forkhead boxes"	5022	protein-coding gene	gene with protein product		600288	"hepatocyte nuclear factor 3, beta"	HNF3B		9119385, 11875061	Standard	NM_153675		Approved		uc002wsm.3	Q9Y261	OTTHUMG00000032041	ENST00000377115.4:c.1179C>G	20.37:g.22562683G>C	ENSP00000366319:p.His393Gln					FOXA2_ENST00000377115.4_Missense_Mutation_p.H393Q|FOXA2_ENST00000319993.4_Missense_Mutation_p.H399Q	p.H393Q	NM_021784.4	NP_068556.2	Q9Y261	FOXA2_HUMAN			2	1381	-	Lung NSC(19;0.188)		393			Transactivation domain 2 (By similarity).		Q8WUW4|Q96DF7	Missense_Mutation	SNP	ENST00000377115.4	37	c.1179C>G	CCDS13147.1	.	.	.	.	.	.	.	.	.	.	G	14.31	2.497180	0.44352	.	.	ENSG00000125798	ENST00000377115;ENST00000419308;ENST00000319993;ENST00000444877	D;D;D	0.89617	-2.54;-2.54;-2.54	4.15	4.15	0.48705	Forkhead box protein, C-terminal (1);	0.140222	0.27871	U	0.017508	T	0.81616	0.4860	N	0.22421	0.69	0.34113	D	0.663202	B;B	0.10296	0.001;0.003	B;B	0.10450	0.005;0.005	T	0.83351	-0.0003	10	0.54805	T	0.06	.	12.874	0.57980	0.0:0.2148:0.7852:0.0	.	393;399	Q9Y261;B0ZTD4	FOXA2_HUMAN;.	Q	393;393;399;279	ENSP00000366319:H393Q;ENSP00000400341:H393Q;ENSP00000315955:H399Q	ENSP00000315955:H399Q	H	-	3	2	FOXA2	22510683	0.995000	0.38212	1.000000	0.80357	0.839000	0.47603	0.492000	0.22435	2.288000	0.76882	0.486000	0.48141	CAC		0.617	FOXA2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000078289.1			3	91	0	0	0	0.115264	0	3	91					C	22562683	G	C	22562683	3	2	65	1	0	0	0	0	1	0	0	0	5990	1252	44	5	198	5	FOXA2	20	22562683	Missense_Mutation	SNP	G	TCGA-EJ-5517-01A-01D-1576-08		22562683	40462837	36	3323											
TPTE	7179	broad.mit.edu	37	chr21	10908828	10908828	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttctattatattcatacctgTtattttcaataaaagatgtg	13	19	4	5	0	3	1	2	0	1	1	3	1	3	1	1	0	1	1	1	0	8	10			TCGA-EJ-5517-01A-01D-1576-08	TCGA-EJ-5517-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	087a7f17-690b-460f-a9ce-ab90d316a64c	3a863bfc-2b84-4a57-8049-f41ebba5ab1c	g.chr21:10908828T>G	ENST00000361285.4	-	23	1846	c.1517A>C	c.(1516-1518)aAc>aCc	p.N506T	TPTE_ENST00000342420.5_Missense_Mutation_p.N468T|TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000298232.7_Missense_Mutation_p.N488T	NM_199261.2	NP_954870	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	506	C2 tensin-type. {ECO:0000255|PROSITE- ProRule:PRU00589}.				peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	ion channel activity (GO:0005216)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.N488T(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		TTCATACCTGTTATTTTCAAT	0.294																																						ENST00000298232.7																			1	Substitution - Missense(1)	p.N488T(1)	prostate(1)	NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130						c.(1462-1464)aAc>aCc		transmembrane phosphatase with tensin homology							128	122	124					21																	10908828		2203	4297	6500	SO:0001583	missense	7179				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr21:10908828T>G	AF007118	CCDS74771.1, CCDS74772.1, CCDS74773.1	21p11	2011-06-09			ENSG00000166157	ENSG00000274391		"Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"	12023	protein-coding gene	gene with protein product	"PTEN-related tyrosine phosphatase", "cancer/testis antigen 44"	604336				10830953, 14659893	Standard	NM_001290224		Approved	PTEN2, CT44	uc002yip.1	P56180	OTTHUMG00000074127	ENST00000361285.4:c.1517A>C	21.37:g.10908828T>G	ENSP00000355208:p.Asn506Thr					TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000361285.4_Missense_Mutation_p.N506T|TPTE_ENST00000342420.5_Missense_Mutation_p.N468T	p.N488T	NM_199259.2	NP_954868.1	P56180	TPTE_HUMAN	Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	22	1830	-			506			C2 tensin-type.		B2RAP7|C9J6D6|C9JKK8|Q6XPS4|Q6XPS5|Q71JA8|Q8NCS8	Missense_Mutation	SNP	ENST00000361285.4	37	c.1463A>C	CCDS13560.2	.	.	.	.	.	.	.	.	.	.	.	8.510	0.866346	0.17250	.	.	ENSG00000166157	ENST00000298232;ENST00000361285;ENST00000342420	D;D;D	0.85861	-2.04;-2.04;-2.04	2.07	2.07	0.26955	Tensin phosphatase, C2 domain (2);C2 calcium/lipid-binding domain, CaLB (1);	0.175359	0.48286	U	0.000192	D	0.86003	0.5829	M	0.79475	2.455	0.37745	D	0.925758	P;P;B	0.51057	0.589;0.941;0.236	B;P;B	0.54312	0.439;0.748;0.18	T	0.83150	-0.0104	10	0.27082	T	0.32	.	3.8671	0.09021	0.0:0.1843:0.0:0.8157	.	468;488;506	P56180-3;P56180-2;P56180	.;.;TPTE_HUMAN	T	488;506;468	ENSP00000298232:N488T;ENSP00000355208:N506T;ENSP00000344441:N468T	ENSP00000298232:N488T	N	-	2	0	TPTE	9930699	1.000000	0.71417	0.758000	0.31321	0.062000	0.15995	3.520000	0.53465	1.198000	0.43158	0.155000	0.16302	AAC		0.294	TPTE-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000157413.1			4	129	0	0	0	0.150653	0	4	129					G	10908828	T	G	10908828	3	3	65	1	0	0	0	0	1	0	0	0	16427	1725	60	5	146	5	TPTE	21	10908828	Missense_Mutation	SNP	T	TCGA-EJ-5517-01A-01D-1576-08		10908828	37221067	37	3324											
PRR5	55615	broad.mit.edu	37	chr22	45128196	45128196	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aatgccatcaccctcagtgtGaagctagaggatgcgctggc	10	8	12	11	1	2	2	2	1	0	1	2	3	2	3	2	2	3	2	2	2	3	1			TCGA-EJ-5517-01A-01D-1576-08	TCGA-EJ-5517-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	087a7f17-690b-460f-a9ce-ab90d316a64c	3a863bfc-2b84-4a57-8049-f41ebba5ab1c	g.chr22:45128196G>C	ENST00000336985.6	+	6	757	c.480G>C	c.(478-480)gtG>gtC	p.V160V	PRR5-ARHGAP8_ENST00000352766.7_Silent_p.V160V|PRR5_ENST00000403581.1_Silent_p.V183V|PRR5_ENST00000477331.1_3'UTR|PRR5-ARHGAP8_ENST00000361473.5_Intron|PRR5_ENST00000006251.7_Silent_p.V151V|ARHGAP8_ENST00000517296.3_Silent_p.V160V|ARHGAP8_ENST00000389773.5_Intron	NM_181333.3	NP_851850.1	P85299	PRR5_HUMAN	proline rich 5 (renal)	160					cell cycle (GO:0007049)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein phosphorylation (GO:0001934)	TORC2 complex (GO:0031932)		p.V160V(1)|p.V151V(1)		central_nervous_system(1)|endometrium(2)|lung(6)|prostate(1)|skin(1)	11		all_neural(38;0.00409)|Ovarian(80;0.024)|Glioma(61;0.0647)		UCEC - Uterine corpus endometrioid carcinoma (28;0.168)		CCCTCAGTGTGAAGCTAGAGG	0.682																																						ENST00000403581.1																			2	Substitution - coding silent(2)	p.V160V(1)|p.V151V(1)	prostate(2)	central_nervous_system(1)|endometrium(2)|lung(6)|prostate(1)|skin(1)	11						c.(547-549)gtG>gtC		proline rich 5 (renal)							58	52	54					22																	45128196		2203	4300	6503	SO:0001819	synonymous_variant	55615							g.chr22:45128196G>C	AF177331	CCDS14058.1, CCDS14059.1, CCDS56232.1, CCDS74875.1	22q13.3	2011-02-10			ENSG00000186654	ENSG00000186654			31682	protein-coding gene	gene with protein product	"protein observed with Rictor-1"	609406				15718101, 17599906	Standard	NM_001017528		Approved	PP610, FLJ20185k, Protor-1		P85299	OTTHUMG00000150460	ENST00000336985.6:c.480G>C	22.37:g.45128196G>C						ARHGAP8_ENST00000517296.3_Silent_p.V160V|ARHGAP8_ENST00000389773.5_Intron|PRR5-ARHGAP8_ENST00000352766.7_Silent_p.V160V|PRR5_ENST00000336985.6_Silent_p.V160V|PRR5_ENST00000477331.1_3'UTR|PRR5-ARHGAP8_ENST00000361473.5_Intron	p.V183V	NM_001198721.1	NP_001185650.1				UCEC - Uterine corpus endometrioid carcinoma (28;0.168)	8	1158	+		all_neural(38;0.00409)|Ovarian(80;0.024)|Glioma(61;0.0647)						B1AHF6|B1AHG5|B3KP73|O75983|O95695|Q5BIW2|Q5EAJ8|Q5EAJ9|Q5XKJ6|Q96RW1|Q96RW2|Q9HA49|Q9HC46|Q9NSG0|Q9NVX8|Q9NXL1|Q9UH20	Silent	SNP	ENST00000336985.6	37	c.549G>C	CCDS14058.1	.	.	.	.	.	.	.	.	.	.	G	10.48	1.362308	0.24684	.	.	ENSG00000186654	ENST00000455389	.	.	.	4.64	3.57	0.40892	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.9511	0.24546	0.0:0.1755:0.617:0.2075	.	.	.	.	S	120	.	.	X	+	2	2	PRR5	43506860	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	0.940000	0.28992	2.425000	0.82216	0.655000	0.94253	TGA		0.682	PRR5-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318200.2	NM_001017528		3	120	0	0	0	0.115264	0	3	120					C	45128196	G	C	45128196	2	2	65	1	0	0	0	0	0	0	0	1	12600	1277	45	5		5	PRR5	22	45128196	Silent	SNP	G	TCGA-EJ-5517-01A-01D-1576-08		45128196	6176370	38	3325											
USP9X	8239	broad.mit.edu	37	chrX	41000651	41000651	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	catcgacatggtaatcctgaGgaggaagagtggctcacagc	12	7	13	9	1	1	2	1	1	0	1	3	5	2	4	1	4	1	2	1	4	2	1			TCGA-EJ-5517-01A-01D-1576-08	TCGA-EJ-5517-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	087a7f17-690b-460f-a9ce-ab90d316a64c	3a863bfc-2b84-4a57-8049-f41ebba5ab1c	g.chrX:41000651G>A	ENST00000324545.8	+	9	1761	c.1128G>A	c.(1126-1128)gaG>gaA	p.E376E	USP9X_ENST00000378308.2_Silent_p.E376E	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN	ubiquitin specific peptidase 9, X-linked	376					axon extension (GO:0048675)|BMP signaling pathway (GO:0030509)|cerebellar cortex structural organization (GO:0021698)|chromosome segregation (GO:0007059)|female gamete generation (GO:0007292)|gene expression (GO:0010467)|hippocampus development (GO:0021766)|in utero embryonic development (GO:0001701)|mitotic nuclear division (GO:0007067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|post-embryonic development (GO:0009791)|protein deubiquitination (GO:0016579)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent protein catabolic process (GO:0006511)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)|membrane (GO:0016020)	co-SMAD binding (GO:0070410)|cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)|ubiquitin thiolesterase activity (GO:0004221)	p.E369E(1)		NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						GTAATCCTGAGGAGGAAGAGT	0.363																																					Ovarian(172;1807 2695 35459 49286)	ENST00000324545.7																			1	Substitution - coding silent(1)	p.E369E(1)	prostate(1)	NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						c.(1126-1128)gaG>gaA		ubiquitin specific peptidase 9, X-linked							83	78	79					X																	41000651		2151	4281	6432	SO:0001819	synonymous_variant	8239				BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity	g.chrX:41000651G>A	X98296	CCDS43930.1, CCDS55403.1	Xp11.4	2010-08-03	2006-02-14		ENSG00000124486	ENSG00000124486		"Ubiquitin-specific peptidases"	12632	protein-coding gene	gene with protein product		300072	"ubiquitin specific protease 9, X chromosome (fat facets-like Drosophila)", "ubiquitin specific protease 9, X-linked (fat facets-like, Drosophila)", "ubiquitin specific peptidase 9, X-linked (fat facets-like, Drosophila)"			8922996	Standard	NM_001039590		Approved	DFFRX, FAF	uc004dfb.3	Q93008	OTTHUMG00000021367	ENST00000324545.8:c.1128G>A	X.37:g.41000651G>A						USP9X_ENST00000378308.2_Silent_p.E376E	p.E376E	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN			9	1761	+			376					O75550|Q8WWT3|Q8WX12	Silent	SNP	ENST00000324545.8	37	c.1128G>A	CCDS43930.1																																																																																				0.363	USP9X-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000056250.4	NM_004652		13	36	0	0	0	0.411799	0	13	36					A	41000651	G	A	41000651	2	1	65	1	0	0	0	0	0	0	0	1	17087	991	35	3		3	USP9X	23	41000651	Silent	SNP	G	TCGA-EJ-5517-01A-01D-1576-08		41000651	114269909	39	3326											
FAM127A	8933	broad.mit.edu	37	chrX	134166693	134166693	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agagccccctcctcaatgatTaccggggctttctggccgag	7	9	11	14	2	2	2	1	1	1	1	3	3	3	2	5	3	2	1	5	3	2	2			TCGA-EJ-5517-01A-01D-1576-08	TCGA-EJ-5517-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	087a7f17-690b-460f-a9ce-ab90d316a64c	3a863bfc-2b84-4a57-8049-f41ebba5ab1c	g.chrX:134166693T>A	ENST00000257013.7	+	1	361	c.280T>A	c.(280-282)Tac>Aac	p.Y94N	FAM127A_ENST00000464369.1_Intron	NM_001078171.1	NP_001071639.1	O15255	CXX1_HUMAN	family with sequence similarity 127, member A	0						plasma membrane (GO:0005886)		p.Y94N(1)		endometrium(3)|urinary_tract(1)	4	Acute lymphoblastic leukemia(192;0.000127)					CCTCAATGATTACCGGGGCTT	0.642																																						ENST00000257013.7																			1	Substitution - Missense(1)	p.Y94N(1)	prostate(1)	endometrium(3)|urinary_tract(1)	4						c.(280-282)Tac>Aac		family with sequence similarity 127, member A							41	44	43					X																	134166693		2191	4292	6483	SO:0001583	missense	8933							g.chrX:134166693T>A	Y13374	CCDS43997.1	Xq26	2014-05-16	2006-11-16	2006-11-16	ENSG00000134590	ENSG00000134590			2569	protein-coding gene	gene with protein product		300213	"CAAX box 1"	CXX1		9403077, 15716091, 16093683	Standard	NM_001078171		Approved	Mart8, Mar8, MAR8C	uc004eyd.3	A6ZKI3	OTTHUMG00000022465	ENST00000257013.7:c.280T>A	X.37:g.134166693T>A	ENSP00000257013:p.Tyr94Asn					FAM127A_ENST00000464369.1_Intron	p.Y94N	NM_001078171.1	NP_001071639.1	A6ZKI3	F127A_HUMAN			1	361	+	Acute lymphoblastic leukemia(192;0.000127)		94					Q6IBF1	Missense_Mutation	SNP	ENST00000257013.7	37	c.280T>A	CCDS43997.1	.	.	.	.	.	.	.	.	.	.	t	18.23	3.578990	0.65878	.	.	ENSG00000134590	ENST00000257013	T	0.29142	1.58	3.82	3.82	0.43975	.	.	.	.	.	T	0.49881	0.1583	M	0.65975	2.015	0.26056	N	0.981412	D	0.89917	1.0	D	0.76575	0.988	T	0.31696	-0.9934	9	0.72032	D	0.01	.	8.0893	0.30790	0.0:0.0:0.0:1.0	.	94	A6ZKI3	F127A_HUMAN	N	94	ENSP00000257013:Y94N	ENSP00000257013:Y94N	Y	+	1	0	FAM127A	133994359	0.997000	0.39634	0.983000	0.44433	0.905000	0.53344	1.360000	0.34125	1.726000	0.51525	0.441000	0.28932	TAC		0.642	FAM127A-002	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058391.2	NM_001078171		29	16	0	0	0	0.760397	0	29	16					A	134166693	T	A	134166693	3	1	65	1	0	0	0	0	1	0	0	0	5431	1754	61	5	282	5	FAM127A	23	134166693	Missense_Mutation	SNP	T	TCGA-EJ-5517-01A-01D-1576-08	93166042	134166693	21103867	40	3327											
TMEM51	55092	broad.mit.edu	37	chr1	15546032	15546032	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gtggaggccagccctgggaaCccccctgacaggcagaactc	9	4	13	15	0	0	2	0	1	0	1	1	4	0	4	5	4	3	1	5	4	2	0	rs369757007		TCGA-EJ-5518-01A-01D-1576-08	TCGA-EJ-5518-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4377528-6017-41d2-ae39-1f280a2294ad	3c8b1c7e-e15b-49d4-b5bb-4f4a05e92f20	g.chr1:15546032C>T	ENST00000428417.1	+	3	1001	c.555C>T	c.(553-555)aaC>aaT	p.N185N	TMEM51_ENST00000376014.3_Silent_p.N185N|TMEM51_ENST00000400796.3_Silent_p.N185N|TMEM51_ENST00000434578.2_3'UTR|TMEM51_ENST00000376008.2_Silent_p.N185N	NM_001136217.1	NP_001129689.1	Q9NW97	TMM51_HUMAN	transmembrane protein 51	185						integral component of membrane (GO:0016021)		p.N185N(1)		breast(1)|central_nervous_system(1)|cervix(3)|large_intestine(2)|lung(5)|prostate(2)	14		Renal(390;0.00145)|Breast(348;0.00186)|Colorectal(325;0.00215)|all_lung(284;0.00459)|Lung NSC(340;0.0104)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;2.07e-06)|COAD - Colon adenocarcinoma(227;7.14e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000175)|KIRC - Kidney renal clear cell carcinoma(229;0.00141)|STAD - Stomach adenocarcinoma(313;0.00644)|READ - Rectum adenocarcinoma(331;0.0751)		GCCCTGGGAACCCCCCTGACA	0.547																																						ENST00000428417.1																			1	Substitution - coding silent(1)	p.N185N(1)	prostate(1)	breast(1)|central_nervous_system(1)|cervix(3)|large_intestine(2)|lung(5)|prostate(2)	14						c.(553-555)aaC>aaT		transmembrane protein 51		C	,,,	0,4406		0,0,2203	61	69	66		555,555,555,555	-2.8	0	1		66	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	TMEM51	NM_001136216.1,NM_001136217.1,NM_001136218.1,NM_018022.2	,,,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,,,	185/254,185/254,185/254,185/254	15546032	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	55092					integral to membrane		g.chr1:15546032C>T	AK098467	CCDS154.1	1p36.21	2008-02-05	2005-05-22	2005-05-22	ENSG00000171729	ENSG00000171729			25488	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 72"	C1orf72		12477932	Standard	NM_018022		Approved	FLJ10199	uc001avx.3	Q9NW97	OTTHUMG00000002046	ENST00000428417.1:c.555C>T	1.37:g.15546032C>T						TMEM51_ENST00000376014.3_Silent_p.N185N|TMEM51_ENST00000376008.2_Silent_p.N185N|TMEM51_ENST00000434578.2_3'UTR|TMEM51_ENST00000400796.3_Silent_p.N185N	p.N185N	NM_001136217.1	NP_001129689.1	Q9NW97	TMM51_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;2.07e-06)|COAD - Colon adenocarcinoma(227;7.14e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000175)|KIRC - Kidney renal clear cell carcinoma(229;0.00141)|STAD - Stomach adenocarcinoma(313;0.00644)|READ - Rectum adenocarcinoma(331;0.0751)	3	1001	+		Renal(390;0.00145)|Breast(348;0.00186)|Colorectal(325;0.00215)|all_lung(284;0.00459)|Lung NSC(340;0.0104)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0798)	185					A8K819	Silent	SNP	ENST00000428417.1	37	c.555C>T	CCDS154.1																																																																																				0.547	TMEM51-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005699.3	NM_018022		23	76	0	0	0	1	0	23	76					T	15546032	C	T	15546032	2	4	66	1	0	0	0	0	0	0	0	1	16174	506	18	3		3	TMEM51	1	15546032	Silent	SNP	C	TCGA-EJ-5518-01A-01D-1576-08		15546032	233704589	1	3328											
LRRC7	57554	broad.mit.edu	37	chr1	70502287	70502287	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acagctaaagatgcagtacaTaattctttgtggggtaacag	14	11	10	6	0	1	1	0	0	1	1	1	1	1	1	0	2	4	4	0	2	5	6			TCGA-EJ-5518-01A-01D-1576-08	TCGA-EJ-5518-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4377528-6017-41d2-ae39-1f280a2294ad	3c8b1c7e-e15b-49d4-b5bb-4f4a05e92f20	g.chr1:70502287T>C	ENST00000035383.5	+	18	2184	c.2154T>C	c.(2152-2154)caT>caC	p.H718H	LRRC7_ENST00000415775.2_Intron|LRRC7_ENST00000310961.5_Silent_p.H723H	NM_020794.2	NP_065845.1	Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	718						cell junction (GO:0030054)|cytoplasm (GO:0005737)|postsynaptic membrane (GO:0045211)		p.H718H(1)		breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						ATGCAGTACATAATTCTTTGT	0.413																																						ENST00000310961.5																			1	Substitution - coding silent(1)	p.H718H(1)	prostate(1)	breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						c.(2167-2169)caT>caC		leucine rich repeat containing 7							140	154	149					1																	70502287		2203	4300	6503	SO:0001819	synonymous_variant	57554					centrosome|focal adhesion|nucleolus	protein binding	g.chr1:70502287T>C		CCDS645.1	1p31.1	2008-02-05			ENSG00000033122	ENSG00000033122			18531	protein-coding gene	gene with protein product		614453				12525888	Standard	NM_020794		Approved	KIAA1365, densin-180	uc001dep.3	Q96NW7	OTTHUMG00000059194	ENST00000035383.5:c.2154T>C	1.37:g.70502287T>C						LRRC7_ENST00000035383.5_Silent_p.H718H|LRRC7_ENST00000415775.2_Intron	p.H723H			Q96NW7	LRRC7_HUMAN			21	2587	+			718					Q5VXC2|Q5VXC3|Q68D07|Q86VE8|Q8WX20|Q9P2I2	Silent	SNP	ENST00000035383.5	37	c.2169T>C	CCDS645.1																																																																																				0.413	LRRC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131261.1	NM_020794		7	169	0	0	0	1	0	7	169					C	70502287	T	C	70502287	2	2	66	1	0	0	0	0	0	0	0	1	9020	1403	49	4		4	LRRC7	1	70502287	Silent	SNP	T	TCGA-EJ-5518-01A-01D-1576-08	54956255	70502287	178748334	2	3329											
NOTCH2NL	388677	broad.mit.edu	37	chr1	145273385	145273385	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tcgaccttgcctgaatggcgGcacatgccatatgctcagcc	8	9	10	14	2	1	1	1	1	0	0	2	2	1	1	4	2	4	2	4	2	2	2			TCGA-EJ-5518-01A-01D-1576-08	TCGA-EJ-5518-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4377528-6017-41d2-ae39-1f280a2294ad	3c8b1c7e-e15b-49d4-b5bb-4f4a05e92f20	g.chr1:145273385G>A	ENST00000369340.3	+	4	683	c.239G>A	c.(238-240)gGc>gAc	p.G80D	RP11-458D21.5_ENST00000468030.1_Missense_Mutation_p.G80D|NOTCH2NL_ENST00000362074.6_Missense_Mutation_p.G80D|NOTCH2NL_ENST00000344859.3_Missense_Mutation_p.G80D			Q7Z3S9	NT2NL_HUMAN	notch 2 N-terminal like	80	EGF-like 3. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|Notch signaling pathway (GO:0007219)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)	calcium ion binding (GO:0005509)	p.G80D(2)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	27						CTGAATGGCGGCACATGCCAT	0.532																																						ENST00000369340.3																			2	Substitution - Missense(2)	p.G80D(2)	prostate(2)	NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	27						c.(238-240)gGc>gAc		notch 2 N-terminal like							402	370	381					1																	145273385		2203	4300	6503	SO:0001583	missense	388677				cell differentiation|multicellular organismal development|Notch signaling pathway	cytoplasm|extracellular region	calcium ion binding	g.chr1:145273385G>A		CCDS72880.1	1q21.2	2010-06-24	2010-06-24		ENSG00000213240	ENSG00000213240			31862	protein-coding gene	gene with protein product			"Notch homolog 2 (Drosophila) N-terminal like"			14673143	Standard	NM_203458		Approved	N2N	uc001emn.4	Q7Z3S9	OTTHUMG00000013754	ENST00000369340.3:c.239G>A	1.37:g.145273385G>A	ENSP00000358346:p.Gly80Asp					NOTCH2NL_ENST00000362074.6_Missense_Mutation_p.G80D|NOTCH2NL_ENST00000344859.3_Missense_Mutation_p.G80D|RP11-458D21.5_ENST00000468030.1_Missense_Mutation_p.G80D	p.G80D			Q7Z3S9	NT2NL_HUMAN			4	683	+			80			EGF-like 3.		Q5BKT8|Q5VTG9|Q5XG84|Q6P192|Q8NC23|Q8WUQ9|Q96FY1	Missense_Mutation	SNP	ENST00000369340.3	37	c.239G>A	CCDS909.1	.	.	.	.	.	.	.	.	.	.	G	15.44	2.834089	0.50951	.	.	ENSG00000213240	ENST00000362074;ENST00000344859;ENST00000369340	D;D;D	0.97480	-4.4;-4.4;-4.4	2.75	2.75	0.32379	EGF (1);Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	.	.	.	.	D	0.98216	0.9410	M	0.90145	3.09	0.38396	D	0.945546	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.98847	1.0757	9	0.87932	D	0	.	11.2552	0.49050	0.0:0.0:1.0:0.0	.	80;80	Q7Z3S9-2;Q7Z3S9	.;NT2NL_HUMAN	D	80	ENSP00000354929:G80D;ENSP00000344557:G80D;ENSP00000358346:G80D	ENSP00000344557:G80D	G	+	2	0	NOTCH2NL	143984742	1.000000	0.71417	0.997000	0.53966	0.256000	0.26092	8.043000	0.89432	1.532000	0.49169	0.394000	0.25966	GGC		0.532	NOTCH2NL-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000038546.1	NM_203458		7	493	0	0	0	1	0	7	493					A	145273385	G	A	145273385	3	1	66	1	0	0	0	0	1	0	0	0	10549	1203	42	3	245	3	NOTCH2NL	1	145273385	Missense_Mutation	SNP	G	TCGA-EJ-5518-01A-01D-1576-08	74771098	145273385	103977236	3	3330											
HRNR	388697	broad.mit.edu	37	chr1	152191256	152191256	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	agctggaggagtgacctgagCcagatccatgctgagtgtaa	11	8	14	8	0	0	4	0	3	0	1	1	6	1	6	3	2	3	3	3	2	1	1			TCGA-EJ-5518-01A-01D-1576-08	TCGA-EJ-5518-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4377528-6017-41d2-ae39-1f280a2294ad	3c8b1c7e-e15b-49d4-b5bb-4f4a05e92f20	g.chr1:152191256C>T	ENST00000368801.2	-	3	2924	c.2849G>A	c.(2848-2850)gGc>gAc	p.G950D	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	950					establishment of skin barrier (GO:0061436)|hematopoietic progenitor cell differentiation (GO:0002244)|keratinization (GO:0031424)	cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)	p.G950D(1)		autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GTGACCTGAGCCAGATCCATG	0.547																																						ENST00000368801.2																			1	Substitution - Missense(1)	p.G950D(1)	prostate(1)	autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192						c.(2848-2850)gGc>gAc		hornerin							264	261	262					1																	152191256		2203	4298	6501	SO:0001583	missense	388697				keratinization		calcium ion binding|protein binding	g.chr1:152191256C>T	AB104446	CCDS30859.1	1q21.3	2013-01-10			ENSG00000197915	ENSG00000197915		"EF-hand domain containing"	20846	protein-coding gene	gene with protein product	"filaggrin family member 3"						Standard	NM_001009931		Approved	S100a18, S100A16, FLG3	uc001ezt.2	Q86YZ3	OTTHUMG00000012243	ENST00000368801.2:c.2849G>A	1.37:g.152191256C>T	ENSP00000357791:p.Gly950Asp					FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	p.G950D	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	2924	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		950					Q5DT20|Q5U1F4	Missense_Mutation	SNP	ENST00000368801.2	37	c.2849G>A	CCDS30859.1	.	.	.	.	.	.	.	.	.	.	C	5.463	0.270525	0.10349	.	.	ENSG00000197915	ENST00000368801	T	0.01745	4.66	3.62	1.64	0.23874	.	.	.	.	.	T	0.00724	0.0024	L	0.61218	1.895	0.09310	N	1	P	0.48162	0.906	B	0.35413	0.202	T	0.51403	-0.8710	9	0.25751	T	0.34	.	9.5235	0.39149	0.0:0.5538:0.4462:0.0	.	950	Q86YZ3	HORN_HUMAN	D	950	ENSP00000357791:G950D	ENSP00000357791:G950D	G	-	2	0	HRNR	150457880	0.000000	0.05858	0.001000	0.08648	0.003000	0.03518	0.093000	0.15086	0.197000	0.20387	-0.488000	0.04728	GGC		0.547	HRNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034016.1	XM_373868		265	245	0	0	0	1	0	265	245					T	152191256	C	T	152191256	3	4	66	1	0	0	0	0	1	0	0	0	7359	739	26	3	5707	3	HRNR	1	152191256	Missense_Mutation	SNP	C	TCGA-EJ-5518-01A-01D-1576-08	6917871	152191256	97059365	4	3331											
S100A7L2	645922	broad.mit.edu	37	chr1	153410763	153410763	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actgtattggcgaaacatcgCgactatgtccaacatgactt	12	11	8	10	3	0	1	0	1	0	0	2	3	1	1	1	1	2	1	1	1	4	4			TCGA-EJ-5518-01A-01D-1576-08	TCGA-EJ-5518-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4377528-6017-41d2-ae39-1f280a2294ad	3c8b1c7e-e15b-49d4-b5bb-4f4a05e92f20	g.chr1:153410763C>T	ENST00000368725.2	-	2	75	c.76G>A	c.(76-78)Gcg>Acg	p.A26T		NM_001045479.1	NP_001038944.2	Q5SY68	S1A7B_HUMAN	S100 calcium binding protein A7-like 2	15	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.						calcium ion binding (GO:0005509)	p.A15T(1)|p.A26T(1)		NS(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)	8	all_lung(78;2.4e-33)|Lung NSC(65;8.13e-32)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.171)			CGAAACATCGCGACTATGTCC	0.433																																						ENST00000368725.2																			2	Substitution - Missense(2)	p.A15T(1)|p.A26T(1)	prostate(2)	NS(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)	8						c.(76-78)Gcg>Acg		S100 calcium binding protein A7-like 2							193	158	170					1																	153410763		2203	4300	6503	SO:0001583	missense	645922							g.chr1:153410763C>T			1q21.3	2013-01-10			ENSG00000197364	ENSG00000197364		"EF-hand domain containing"	21655	protein-coding gene	gene with protein product							Standard	NM_001045479		Approved	s100a7b	uc010pdx.2	Q5SY68	OTTHUMG00000013129	ENST00000368725.2:c.76G>A	1.37:g.153410763C>T	ENSP00000357714:p.Ala26Thr						p.A26T	NM_001045479.1	NP_001038944.2			LUSC - Lung squamous cell carcinoma(543;0.171)		2	75	-	all_lung(78;2.4e-33)|Lung NSC(65;8.13e-32)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)								Missense_Mutation	SNP	ENST00000368725.2	37	c.76G>A		.	.	.	.	.	.	.	.	.	.	.	8.278	0.814879	0.16607	.	.	ENSG00000197364	ENST00000368725;ENST00000368724;ENST00000453814	T;T;T	0.06608	3.28;3.28;3.28	2.01	-1.9	0.07665	EF-hand-like domain (1);	.	.	.	.	T	0.00998	0.0033	N	0.22421	0.69	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.47774	-0.9091	9	0.17369	T	0.5	.	5.7599	0.18195	0.0:0.3291:0.0:0.6709	.	15	Q5SY68	S1A7B_HUMAN	T	15;15;26	ENSP00000357714:A15T;ENSP00000357713:A15T;ENSP00000405610:A26T	ENSP00000357713:A15T	A	-	1	0	S100A7L2	151677387	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.241000	0.01196	-0.510000	0.06523	-0.302000	0.09304	GCG		0.433	S100A7L2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000036797.2	NM_001045479		16	160	0	0	0	1	0	16	160					T	153410763	C	T	153410763	3	4	66	1	0	0	0	0	1	0	0	0	13785	768	27	1	270	1	S100A7L2	1	153410763	Missense_Mutation	SNP	C	TCGA-EJ-5518-01A-01D-1576-08	1219507	153410763	95839858	5	3332											
CEP170	9859	broad.mit.edu	37	chr1	243327906	243327906	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aagcaacagatgctttgtcaGcatcagcaagttcactgtct	12	11	8	10	0	4	1	3	0	1	1	4	1	4	1	0	0	5	5	0	0	3	2			TCGA-EJ-5518-01A-01D-1576-08	TCGA-EJ-5518-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4377528-6017-41d2-ae39-1f280a2294ad	3c8b1c7e-e15b-49d4-b5bb-4f4a05e92f20	g.chr1:243327906G>T	ENST00000366542.1	-	13	3407	c.3356C>A	c.(3355-3357)gCt>gAt	p.A1119D	RP11-261C10.4_ENST00000422938.1_RNA|CEP170_ENST00000490813.1_5'Flank|CEP170_ENST00000366543.1_Missense_Mutation_p.A1021D|CEP170_ENST00000366544.1_Missense_Mutation_p.A1021D|RP11-261C10.4_ENST00000437499.1_RNA	NM_014812.2	NP_055627.2	Q5SW79	CE170_HUMAN	centrosomal protein 170kDa	1119	Targeting to centrosomes.|Targeting to microtubules.					centriole (GO:0005814)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|nuclear membrane (GO:0031965)		p.A1119D(1)		NS(1)|breast(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	62	all_neural(11;0.101)	all_cancers(173;0.003)	all cancers(7;5.81e-06)|GBM - Glioblastoma multiforme(7;0.000443)|OV - Ovarian serous cystadenocarcinoma(106;0.0101)			TGCTTTGTCAGCATCAGCAAG	0.478																																						ENST00000366542.1																			1	Substitution - Missense(1)	p.A1119D(1)	prostate(1)	NS(1)|breast(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	62						c.(3355-3357)gCt>gAt		centrosomal protein 170kDa							63	59	60					1																	243327906		1954	4134	6088	SO:0001583	missense	9859					centriole|microtubule|spindle		g.chr1:243327906G>T	AB022657	CCDS44337.1, CCDS44338.1, CCDS44339.1	1q44	2014-02-20	2006-01-12	2006-01-12	ENSG00000143702	ENSG00000143702			28920	protein-coding gene	gene with protein product	"KARP 1 binding protein", "XRCC5 binding protein"	613023	"KIAA0470"	KIAA0470		15616186	Standard	NM_014812		Approved	KAB, FAM68A	uc021plo.1	Q5SW79	OTTHUMG00000039862	ENST00000366542.1:c.3356C>A	1.37:g.243327906G>T	ENSP00000355500:p.Ala1119Asp					CEP170_ENST00000366544.1_Missense_Mutation_p.A1021D|CEP170_ENST00000366543.1_Missense_Mutation_p.A1021D	p.A1119D	NM_014812.2	NP_055627.2	Q5SW79	CE170_HUMAN	all cancers(7;5.81e-06)|GBM - Glioblastoma multiforme(7;0.000443)|OV - Ovarian serous cystadenocarcinoma(106;0.0101)		13	3407	-	all_neural(11;0.101)	all_cancers(173;0.003)	1119			Targeting to centrosomes.|Targeting to microtubules.		O75058|Q5SW77|Q5SW78|Q7LGA9|Q86W31|Q9UQ08|Q9UQ09	Missense_Mutation	SNP	ENST00000366542.1	37	c.3356C>A	CCDS44339.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.4|20.4	3.981559|3.981559	0.74474|0.74474	.|.	.|.	ENSG00000143702|ENSG00000143702	ENST00000366542;ENST00000366544;ENST00000366543;ENST00000532008|ENST00000336415	T;T;T|.	0.53640|.	0.74;0.72;0.61|.	5.04|5.04	5.04|5.04	0.67666|0.67666	.|.	0.050742|.	0.85682|.	D|.	0.000000|.	T|T	0.67785|0.67785	0.2930|0.2930	L|L	0.47716|0.47716	1.5|1.5	0.80722|0.80722	D|D	1|1	D;D;D;D|.	0.89917|.	1.0;1.0;1.0;0.999|.	D;D;D;D|.	0.91635|.	0.999;0.996;0.996;0.997|.	T|T	0.65134|0.65134	-0.6242|-0.6242	10|5	0.45353|.	T|.	0.12|.	-14.8826|-14.8826	17.378|17.378	0.87398|0.87398	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	1082;1021;1021;1119|.	B1ARM6;Q5SW79-3;Q5SW79-2;Q5SW79|.	.;.;.;CE170_HUMAN|.	D|M	1119;1021;1021;80|1083	ENSP00000355500:A1119D;ENSP00000355502:A1021D;ENSP00000355501:A1021D|.	ENSP00000355500:A1119D|.	A|L	-|-	2|1	0|2	CEP170|CEP170	241394529|241394529	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	9.159000|9.159000	0.94728|0.94728	2.318000|2.318000	0.78349|0.78349	0.555000|0.555000	0.69702|0.69702	GCT|CTG		0.478	CEP170-003	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096178.2	NM_014812		15	47	1	0	2.31682e-05	1	2.51261e-05	15	47					T	243327906	G	T	243327906	3	4	66	1	0	0	0	0	1	0	0	0	3250	971	34	5	1460	5	CEP170	1	243327906	Missense_Mutation	SNP	G	TCGA-EJ-5518-01A-01D-1576-08	89917143	243327906	5922715	6	3333											
DNMT3A	1788	broad.mit.edu	37	chr2	25469138	25469138	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gcagctgcctcaggttccacCcacatgtccgtgtacacttc	7	10	8	16	1	1	0	1	0	0	0	4	0	3	0	4	1	3	4	4	1	1	3			TCGA-EJ-5518-01A-01D-1576-08	TCGA-EJ-5518-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4377528-6017-41d2-ae39-1f280a2294ad	3c8b1c7e-e15b-49d4-b5bb-4f4a05e92f20	g.chr2:25469138C>T	ENST00000264709.3	-	11	1657	c.1320G>A	c.(1318-1320)tgG>tgA	p.W440*	DNMT3A_ENST00000402667.1_Nonsense_Mutation_p.W217*|DNMT3A_ENST00000474887.1_5'Flank|DNMT3A_ENST00000321117.5_Nonsense_Mutation_p.W440*|DNMT3A_ENST00000380746.4_Nonsense_Mutation_p.W251*	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN	DNA (cytosine-5-)-methyltransferase 3 alpha	440					C-5 methylation of cytosine (GO:0090116)|cellular response to amino acid stimulus (GO:0071230)|DNA methylation (GO:0006306)|DNA methylation involved in embryo development (GO:0043045)|DNA methylation involved in gamete generation (GO:0043046)|DNA methylation on cytosine within a CG sequence (GO:0010424)|hypermethylation of CpG island (GO:0044027)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of gene expression by genetic imprinting (GO:0006349)|S-adenosylhomocysteine metabolic process (GO:0046498)|S-adenosylmethioninamine metabolic process (GO:0046499)|spermatogenesis (GO:0007283)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|euchromatin (GO:0000791)|nuclear heterochromatin (GO:0005720)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA (cytosine-5-)-methyltransferase activity, acting on CpG substrates (GO:0051718)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|unmethylated CpG binding (GO:0045322)	p.W440*(1)|p.W251*(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CAGGTTCCACCCACATGTCCG	0.547			"Mis, F, N, S"		AML																																	ENST00000264709.3				Rec	yes		2	2p23	1788	"Mis, F, N, S"	DNA (cytosine-5-)-methyltransferase 3 alpha			L			AML		2	Substitution - Nonsense(2)	p.W440*(1)|p.W251*(1)	prostate(2)	breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021						c.(1318-1320)tgG>tgA		DNA (cytosine-5-)-methyltransferase 3 alpha							142	144	143					2																	25469138		2203	4300	6503	SO:0001587	stop_gained	1788				regulation of gene expression by genetic imprinting	cytoplasm|euchromatin|nuclear matrix	DNA (cytosine-5-)-methyltransferase activity|DNA binding|metal ion binding|protein binding	g.chr2:25469138C>T		CCDS1718.2, CCDS33157.1, CCDS46232.1	2p23	2014-09-17			ENSG00000119772	ENSG00000119772			2978	protein-coding gene	gene with protein product		602769				9662389, 10433969	Standard	NM_175630		Approved		uc002rgc.4	Q9Y6K1	OTTHUMG00000094777	ENST00000264709.3:c.1320G>A	2.37:g.25469138C>T	ENSP00000264709:p.Trp440*					DNMT3A_ENST00000402667.1_Nonsense_Mutation_p.W217*|DNMT3A_ENST00000380746.4_Nonsense_Mutation_p.W251*|DNMT3A_ENST00000321117.5_Nonsense_Mutation_p.W440*	p.W440*	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN			11	1657	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		440					E9PEB8|Q86TE8|Q86XF5|Q8IZV0|Q8WXU9	Nonsense_Mutation	SNP	ENST00000264709.3	37	c.1320G>A	CCDS33157.1	.	.	.	.	.	.	.	.	.	.	C	40	8.266005	0.98735	.	.	ENSG00000119772	ENST00000380746;ENST00000321117;ENST00000264709;ENST00000402667	.	.	.	5.74	5.74	0.90152	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.14252	T	0.57	-7.0978	17.4192	0.87510	0.0:1.0:0.0:0.0	.	.	.	.	X	251;440;440;217	.	ENSP00000264709:W440X	W	-	3	0	DNMT3A	25322642	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	7.310000	0.78947	2.710000	0.92621	0.655000	0.94253	TGG		0.547	DNMT3A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000211587.1	NM_022552		61	146	0	0	0	1	0	61	146					T	25469138	C	T	25469138	4	4	66	1	0	0	0	0	0	1	0	0	4676	624	22	3	1470	3	DNMT3A	2	25469138	Nonsense_Mutation	SNP	C	TCGA-EJ-5518-01A-01D-1576-08		25469138	217730235	7	3334											
BRE	9577	broad.mit.edu	37	chr2	28117448	28117448	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccccagaagtggccttgaacCgaatatctccaatgctctcc	10	9	7	15	1	2	2	0	1	2	1	4	3	2	2	6	1	2	1	6	1	5	2			TCGA-EJ-5518-01A-01D-1576-08	TCGA-EJ-5518-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4377528-6017-41d2-ae39-1f280a2294ad	3c8b1c7e-e15b-49d4-b5bb-4f4a05e92f20	g.chr2:28117448C>T	ENST00000342045.2	+	3	166	c.25C>T	c.(25-27)Cga>Tga	p.R9*	BRE_ENST00000379624.1_Nonsense_Mutation_p.R9*|BRE_ENST00000603461.1_Intron|BRE_ENST00000344773.2_Nonsense_Mutation_p.R9*|BRE_ENST00000379632.2_Nonsense_Mutation_p.R9*|BRE_ENST00000361704.2_Nonsense_Mutation_p.R9*	NM_199194.2	NP_954664.1			brain and reproductive organ-expressed (TNFRSF1A modulator)									p.R9*(2)		NS(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|prostate(2)|skin(2)	23	Acute lymphoblastic leukemia(172;0.155)					GGCCTTGAACCGAATATCTCC	0.418																																						ENST00000344773.2																			2	Substitution - Nonsense(2)	p.R9*(2)	prostate(2)	NS(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|prostate(2)|skin(2)	23						c.(25-27)Cga>Tga		brain and reproductive organ-expressed (TNFRSF1A modulator)							243	230	234					2																	28117448		2203	4300	6503	SO:0001587	stop_gained	9577				apoptosis|chromatin modification|double-strand break repair|G2/M transition DNA damage checkpoint|positive regulation of anti-apoptosis|positive regulation of DNA repair|response to ionizing radiation|signal transduction	BRCA1-A complex|BRISC complex|cytoplasm|nuclear ubiquitin ligase complex	peroxisome targeting sequence binding|polyubiquitin binding|tumor necrosis factor receptor binding	g.chr2:28117448C>T	AF015767	CCDS1763.1, CCDS1764.1, CCDS1765.1	2p23	2008-02-05			ENSG00000158019	ENSG00000158019			1106	protein-coding gene	gene with protein product	"BRCA1/BRCA2-containing complex, subunit 4"	610497				9737713, 7826398	Standard	NM_004899		Approved	BRCC45, BRCC4	uc002rls.3	Q9NXR7	OTTHUMG00000097831	ENST00000342045.2:c.25C>T	2.37:g.28117448C>T	ENSP00000339371:p.Arg9*					BRE_ENST00000379632.2_Nonsense_Mutation_p.R9*|BRE_ENST00000361704.2_Nonsense_Mutation_p.R9*|BRE_ENST00000342045.2_Nonsense_Mutation_p.R9*|BRE_ENST00000603461.1_Intron|BRE_ENST00000379624.1_Nonsense_Mutation_p.R9*	p.R9*	NM_004899.4	NP_004890.2	Q9NXR7	BRE_HUMAN			2	163	+	Acute lymphoblastic leukemia(172;0.155)		9						Nonsense_Mutation	SNP	ENST00000342045.2	37	c.25C>T	CCDS1763.1	.	.	.	.	.	.	.	.	.	.	C	35	5.465651	0.96257	.	.	ENSG00000158019	ENST00000436924;ENST00000344773;ENST00000379624;ENST00000342045;ENST00000379632;ENST00000361704;ENST00000379629	.	.	.	5.91	1.91	0.25777	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.12766	T	0.61	-14.1688	15.6353	0.76946	0.5757:0.4243:0.0:0.0	.	.	.	.	X	9	.	ENSP00000339371:R9X	R	+	1	2	BRE	27970952	0.999000	0.42202	1.000000	0.80357	0.985000	0.73830	0.722000	0.25925	0.375000	0.24679	-0.182000	0.12963	CGA		0.418	BRE-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215114.1			80	268	0	0	0	1	0	80	268					T	28117448	C	T	28117448	4	4	66	1	0	0	0	0	0	1	0	0	1509	644	23	2	27	2	BRE	2	28117448	Nonsense_Mutation	SNP	C	TCGA-EJ-5518-01A-01D-1576-08	2648310	28117448	215081925	8	3335											
PRKAG3	53632	broad.mit.edu	37	chr2	219691759	219691759	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agccaagtctcggaatgtgcCgatgcccaaatcttggatag	11	9	11	10	2	2	0	0	0	2	0	3	3	2	2	3	2	3	0	3	2	4	2			TCGA-EJ-5518-01A-01D-1576-08	TCGA-EJ-5518-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4377528-6017-41d2-ae39-1f280a2294ad	3c8b1c7e-e15b-49d4-b5bb-4f4a05e92f20	g.chr2:219691759C>T	ENST00000529249.1	-	10	1375	c.1060G>A	c.(1060-1062)Ggc>Agc	p.G354S	PRKAG3_ENST00000545803.1_Missense_Mutation_p.G170S|PRKAG3_ENST00000392098.3_Silent_p.S338S|PRKAG3_ENST00000439262.2_Missense_Mutation_p.G329S			Q9UGI9	AAKG3_HUMAN	protein kinase, AMP-activated, gamma 3 non-catalytic subunit	354					cell cycle arrest (GO:0007050)|fatty acid biosynthetic process (GO:0006633)|glucose transport (GO:0015758)|glycogen biosynthetic process (GO:0005978)|insulin receptor signaling pathway (GO:0008286)|intracellular signal transduction (GO:0035556)|membrane organization (GO:0061024)|protein phosphorylation (GO:0006468)	AMP-activated protein kinase complex (GO:0031588)|cytosol (GO:0005829)|extracellular space (GO:0005615)	AMP-activated protein kinase activity (GO:0004679)|ATP binding (GO:0005524)|protein kinase binding (GO:0019901)	p.G354S(1)		large_intestine(7)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	20		Renal(207;0.0474)		Epithelial(149;4.35e-07)|all cancers(144;8.96e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	Acetylsalicylic acid(DB00945)	CGGAATGTGCCGATGCCCAAA	0.597																																						ENST00000439262.2																			1	Substitution - Missense(1)	p.G354S(1)	prostate(1)	large_intestine(7)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	20						c.(985-987)Ggc>Agc		protein kinase, AMP-activated, gamma 3 non-catalytic subunit							116	115	116					2																	219691759		2203	4300	6503	SO:0001583	missense	53632				cell cycle arrest|fatty acid biosynthetic process|insulin receptor signaling pathway|intracellular protein kinase cascade|regulation of fatty acid oxidation	cytosol	AMP-activated protein kinase activity|protein kinase binding	g.chr2:219691759C>T	AF214519	CCDS2424.1	2q35	2012-09-20			ENSG00000115592	ENSG00000115592			9387	protein-coding gene	gene with protein product		604976				10818001	Standard	NM_017431		Approved		uc002vjb.1	Q9UGI9	OTTHUMG00000133078	ENST00000529249.1:c.1060G>A	2.37:g.219691759C>T	ENSP00000436068:p.Gly354Ser					PRKAG3_ENST00000529249.1_Missense_Mutation_p.G354S|PRKAG3_ENST00000545803.1_Missense_Mutation_p.G170S|PRKAG3_ENST00000392098.3_Silent_p.S338S	p.G329S	NM_017431.2	NP_059127.2	Q9UGI9	AAKG3_HUMAN		Epithelial(149;4.35e-07)|all cancers(144;8.96e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	10	1080	-		Renal(207;0.0474)	354			CBS 2.		Q4QQG8|Q4V779|Q9NRL1	Missense_Mutation	SNP	ENST00000529249.1	37	c.985G>A	CCDS2424.1	.	.	.	.	.	.	.	.	.	.	C	36	5.868456	0.97043	.	.	ENSG00000115592	ENST00000439262;ENST00000545803;ENST00000529249	D;D;D	0.91894	-2.93;-2.93;-2.93	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	D	0.95878	0.8658	M	0.72118	2.19	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95811	0.8841	10	0.72032	D	0.01	-25.0222	18.9741	0.92728	0.0:1.0:0.0:0.0	.	354	Q9UGI9	AAKG3_HUMAN	S	329;170;354	ENSP00000397133:G329S;ENSP00000444536:G170S;ENSP00000436068:G354S	ENSP00000233944:G354S	G	-	1	0	PRKAG3	219400003	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.640000	0.83355	2.729000	0.93468	0.655000	0.94253	GGC		0.597	PRKAG3-006	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385992.1			38	143	0	0	0	1	0	38	143					T	219691759	C	T	219691759	3	4	66	1	0	0	0	0	1	0	0	0	12502	652	23	2	425	2	PRKAG3	2	219691759	Missense_Mutation	SNP	C	TCGA-EJ-5518-01A-01D-1576-08	191574311	219691759	23507614	9	3336											
C2orf54	79919	broad.mit.edu	37	chr2	241831176	241831176	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctcaggctggccgcgttcagCgaacctgcaaagacccaagt	10	6	11	14	3	2	1	2	0	0	1	2	2	2	1	3	2	3	3	3	2	3	1	rs201526003		TCGA-EJ-5518-01A-01D-1576-08	TCGA-EJ-5518-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4377528-6017-41d2-ae39-1f280a2294ad	3c8b1c7e-e15b-49d4-b5bb-4f4a05e92f20	g.chr2:241831176C>T	ENST00000388934.4	-	2	677	c.519G>A	c.(517-519)tcG>tcA	p.S173S	C2orf54_ENST00000402775.2_Silent_p.S5S|C2orf54_ENST00000307486.8_Silent_p.S24S	NM_001085437.1	NP_001078906	Q08AI8	CB054_HUMAN	chromosome 2 open reading frame 54	173				S -> P (in Ref. 1; BAB15445). {ECO:0000305}.				p.S173S(1)		haematopoietic_and_lymphoid_tissue(1)|lung(4)|prostate(1)	6		all_epithelial(40;3.99e-16)|Breast(86;2.35e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|Lung NSC(271;0.094)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;8.14e-32)|all cancers(36;4.77e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;4.88e-06)|Lung(119;0.000452)|LUSC - Lung squamous cell carcinoma(224;0.00415)|Colorectal(34;0.021)|COAD - Colon adenocarcinoma(134;0.15)		CCGCGTTCAGCGAACCTGCAA	0.647																																						ENST00000307486.8																			1	Substitution - coding silent(1)	p.S173S(1)	prostate(1)	haematopoietic_and_lymphoid_tissue(1)|lung(4)|prostate(1)	6						c.(70-72)tcG>tcA		chromosome 2 open reading frame 54							40	47	45					2																	241831176		2176	4265	6441	SO:0001819	synonymous_variant	79919							g.chr2:241831176C>T	AK026324, AK056601	CCDS42839.1, CCDS42840.1, CCDS63187.1	2q37.3	2011-02-23			ENSG00000172478	ENSG00000172478			26216	protein-coding gene	gene with protein product							Standard	NM_001282921		Approved	FLJ22671	uc002wae.4	Q08AI8	OTTHUMG00000151906	ENST00000388934.4:c.519G>A	2.37:g.241831176C>T						C2orf54_ENST00000402775.2_Silent_p.S5S|C2orf54_ENST00000388934.4_Silent_p.S173S	p.S24S			Q08AI8	CB054_HUMAN		Epithelial(32;8.14e-32)|all cancers(36;4.77e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;4.88e-06)|Lung(119;0.000452)|LUSC - Lung squamous cell carcinoma(224;0.00415)|Colorectal(34;0.021)|COAD - Colon adenocarcinoma(134;0.15)	2	170	-		all_epithelial(40;3.99e-16)|Breast(86;2.35e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|Lung NSC(271;0.094)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)	173					B3KPP9|H7BXM3|Q08AI9|Q53QU5|Q9H622	Silent	SNP	ENST00000388934.4	37	c.72G>A	CCDS42839.1																																																																																				0.647	C2orf54-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000324353.1	NM_024861, NM_001085437		20	55	0	0	0	1	0	20	55					T	241831176	C	T	241831176	2	4	66	1	0	0	0	0	0	0	0	1	2175	755	27	1		1	C2orf54	2	241831176	Silent	SNP	C	TCGA-EJ-5518-01A-01D-1576-08	22139417	241831176	1368197	10	3337											
DCLK3	85443	broad.mit.edu	37	chr3	36778888	36778888	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tagatttccatgtctgtttcGtagacttcatgcaatttcac	9	17	6	9	1	3	2	2	0	1	2	5	2	4	2	1	0	1	3	1	0	3	6			TCGA-EJ-5518-01A-01D-1576-08	TCGA-EJ-5518-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4377528-6017-41d2-ae39-1f280a2294ad	3c8b1c7e-e15b-49d4-b5bb-4f4a05e92f20	g.chr3:36778888G>A	ENST00000416516.2	-	2	1753	c.1263C>T	c.(1261-1263)taC>taT	p.Y421Y		NM_033403.1	NP_208382.1	Q9C098	DCLK3_HUMAN	doublecortin-like kinase 3	421	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.					cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.Y421Y(1)		breast(3)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	48						TGTCTGTTTCGTAGACTTCAT	0.502																																						ENST00000416516.2																			1	Substitution - coding silent(1)	p.Y421Y(1)	prostate(1)	breast(3)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	48						c.(1261-1263)taC>taT		doublecortin-like kinase 3							139	136	137					3																	36778888		2106	4236	6342	SO:0001819	synonymous_variant	85443					cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity	g.chr3:36778888G>A	AB051552	CCDS43064.1	3p22.3	2007-04-02	2007-04-02	2007-04-02	ENSG00000163673	ENSG00000163673			19005	protein-coding gene	gene with protein product		613167	"doublecortin and CaM kinase-like 3"	DCAMKL3		11214970, 16869982	Standard	NM_033403		Approved	KIAA1765, DCDC3C	uc003cgi.2	Q9C098	OTTHUMG00000155805	ENST00000416516.2:c.1263C>T	3.37:g.36778888G>A							p.Y421Y	NM_033403.1	NP_208382.1	Q9C098	DCLK3_HUMAN			2	1753	-			421			Protein kinase.			Silent	SNP	ENST00000416516.2	37	c.1263C>T	CCDS43064.1																																																																																				0.502	DCLK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341727.1	XM_047355		19	95	0	0	0	1	0	19	95					A	36778888	G	A	36778888	2	1	66	1	0	0	0	0	0	0	0	1	4293	1140	40	1		1	DCLK3	3	36778888	Silent	SNP	G	TCGA-EJ-5518-01A-01D-1576-08		36778888	161243542	11	3338											
GOLGB1	2804	broad.mit.edu	37	chr3	121413151	121413151	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gcttgtgcctttttgcggtgTtcaactgcttgagccagatt	5	16	11	9	1	1	2	1	1	0	1	1	2	1	2	2	1	5	3	2	1	1	6			TCGA-EJ-5518-01A-01D-1576-08	TCGA-EJ-5518-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4377528-6017-41d2-ae39-1f280a2294ad	3c8b1c7e-e15b-49d4-b5bb-4f4a05e92f20	g.chr3:121413151T>C	ENST00000340645.5	-	13	6329	c.6204A>G	c.(6202-6204)gaA>gaG	p.E2068E	GOLGB1_ENST00000393667.3_Silent_p.E2073E	NM_001256487.1|NM_001256488.1|NM_004487.4	NP_001243416.1|NP_001243417.1|NP_004478.3	Q14789	GOGB1_HUMAN	golgin B1	2068					Golgi organization (GO:0007030)	cis-Golgi network (GO:0005801)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)	p.E2068E(1)		NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		TTTTGCGGTGTTCAACTGCTT	0.403																																						ENST00000393667.3																			1	Substitution - coding silent(1)	p.E2068E(1)	prostate(1)	NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119						c.(6217-6219)gaA>gaG		golgin B1							119	119	119					3																	121413151		2203	4300	6503	SO:0001819	synonymous_variant	2804				Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding	g.chr3:121413151T>C	X75304	CCDS3004.1, CCDS58847.1, CCDS74989.1	3q13	2010-02-12	2010-02-12	2007-07-27	ENSG00000173230	ENSG00000173230			4429	protein-coding gene	gene with protein product	"macrogolgin", "golgi integral membrane protein 1"	602500	"golgi autoantigen, golgin subfamily b, macrogolgin (with transmembrane signal), 1", "golgin B1, golgi integral membrane protein"			7691276, 15004235	Standard	NM_001256486		Approved	GCP, GCP372, giantin, GOLIM1	uc010hrc.4	Q14789	OTTHUMG00000159411	ENST00000340645.5:c.6204A>G	3.37:g.121413151T>C						GOLGB1_ENST00000340645.5_Silent_p.E2068E	p.E2073E	NM_001256486.1	NP_001243415.1	Q14789	GOGB1_HUMAN		GBM - Glioblastoma multiforme(114;0.0989)	13	6329	-			2068					B2ZZ91|D3DN92|E7EP74|Q14398	Silent	SNP	ENST00000340645.5	37	c.6219A>G	CCDS3004.1																																																																																				0.403	GOLGB1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000355159.1	NM_004487		4	317	0	0	0	1	0	4	317					C	121413151	T	C	121413151	2	2	66	1	0	0	0	0	0	0	0	1	6565	1722	60	4		4	GOLGB1	3	121413151	Silent	SNP	T	TCGA-EJ-5518-01A-01D-1576-08	84634263	121413151	76609279	12	3339											
BCL6	604	broad.mit.edu	37	chr3	187451335	187451335	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	cctcacctgcaggccatgagGaccgttttatgggctctaaa	9	10	10	12	1	2	1	1	1	1	0	2	2	2	2	4	3	1	3	4	3	3	3			TCGA-EJ-5518-01A-01D-1576-08	TCGA-EJ-5518-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4377528-6017-41d2-ae39-1f280a2294ad	3c8b1c7e-e15b-49d4-b5bb-4f4a05e92f20	g.chr3:187451335G>A	ENST00000406870.2	-	3	513	c.147C>T	c.(145-147)gtC>gtT	p.V49V	BCL6_ENST00000232014.4_Silent_p.V49V|BCL6_ENST00000450123.2_Silent_p.V49V|RP11-211G3.3_ENST00000449623.1_Silent_p.R51R|BCL6_ENST00000496823.1_5'Flank	NM_001706.4	NP_001697.2	P41182	BCL6_HUMAN	B-cell CLL/lymphoma 6	49	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				actin cytoskeleton organization (GO:0030036)|B cell differentiation (GO:0030183)|cell morphogenesis (GO:0000902)|cellular response to DNA damage stimulus (GO:0006974)|erythrocyte development (GO:0048821)|germinal center formation (GO:0002467)|inflammatory response (GO:0006954)|negative regulation of B cell apoptotic process (GO:0002903)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of isotype switching to IgE isotypes (GO:0048294)|negative regulation of mast cell cytokine production (GO:0032764)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of T-helper 2 cell differentiation (GO:0045629)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of type 2 immune response (GO:0002829)|positive regulation of apoptotic process (GO:0043065)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cellular component movement (GO:0051272)|protein import into nucleus, translocation (GO:0000060)|regulation of germinal center formation (GO:0002634)|regulation of immune response (GO:0050776)|regulation of inflammatory response (GO:0050727)|regulation of memory T cell differentiation (GO:0043380)|regulation of Rho GTPase activity (GO:0032319)|Rho protein signal transduction (GO:0007266)|spermatogenesis (GO:0007283)|type 2 immune response (GO:0042092)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|metal ion binding (GO:0046872)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.V49V(1)		central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(9)|lung(10)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	40	all_cancers(143;9.45e-12)|Ovarian(172;0.0418)		OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.0141)		AGGCCATGAGGACCGTTTTAT	0.507			"T, Mis"	"IG loci, ZNFN1A1, LCP1, PIM1, TFRC, CIITA, NACA, HSPCB, HSPCA, HIST1H4I, IL21R,  POU2AF1, ARHH, EIF4A2, SFRS3"	"NHL, CLL"																																	ENST00000406870.2				Dom	yes		3	3q27	604	"T, Mis"	B-cell CLL/lymphoma 6			L	"IG loci, ZNFN1A1, LCP1, PIM1, TFRC, CIITA, NACA, HSPCB, HSPCA, HIST1H4I, IL21R,  POU2AF1, ARHH, EIF4A2, SFRS3"		"NHL, CLL"		1	Substitution - coding silent(1)	p.V49V(1)	prostate(1)	central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(9)|lung(10)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	40						c.(145-147)gtC>gtT		B-cell CLL/lymphoma 6							135	133	133					3																	187451335		2203	4300	6503	SO:0001819	synonymous_variant	604				negative regulation of B cell apoptosis|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|protein import into nucleus, translocation|regulation of germinal center formation|response to DNA damage stimulus	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr3:187451335G>A		CCDS3289.1, CCDS46975.1	3q27	2013-01-09	2008-08-01		ENSG00000113916	ENSG00000113916		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	1001	protein-coding gene	gene with protein product		109565	"zinc finger protein 51"	ZNF51			Standard	NM_001130845		Approved	ZBTB27, LAZ3, BCL5, BCL6A	uc003frq.2	P41182	OTTHUMG00000156441	ENST00000406870.2:c.147C>T	3.37:g.187451335G>A						RP11-211G3.3_ENST00000449623.1_Silent_p.R51R|BCL6_ENST00000450123.2_Silent_p.V49V|BCL6_ENST00000232014.4_Silent_p.V49V	p.V49V	NM_001706.4	NP_001697.2	P41182	BCL6_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.0141)	3	513	-	all_cancers(143;9.45e-12)|Ovarian(172;0.0418)		49			BTB.		A7E241|B8PSA7|D3DNV5	Silent	SNP	ENST00000406870.2	37	c.147C>T	CCDS3289.1																																																																																				0.507	BCL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344202.1	NM_138931		11	190	0	0	0	1	0	11	190					A	187451335	G	A	187451335	2	1	66	1	0	0	0	0	0	0	0	1	1376	1161	41	3		3	BCL6	3	187451335	Silent	SNP	G	TCGA-EJ-5518-01A-01D-1576-08	66038184	187451335	10571095	13	3340											
WDFY3	23001	broad.mit.edu	37	chr4	85603587	85603587	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ttcagcaggctcaggagctgGtgtttcaggaacttgcaaaa	11	10	12	8	0	3	0	3	0	0	0	3	2	3	2	0	4	4	5	0	4	3	3			TCGA-EJ-5518-01A-01D-1576-08	TCGA-EJ-5518-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4377528-6017-41d2-ae39-1f280a2294ad	3c8b1c7e-e15b-49d4-b5bb-4f4a05e92f20	g.chr4:85603587G>A	ENST00000295888.4	-	64	10170	c.9763C>T	c.(9763-9765)Cca>Tca	p.P3255S	WDFY3_ENST00000322366.6_Missense_Mutation_p.P3238S	NM_014991.4	NP_055806.2	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	3255	Interaction with ATG5.|Interaction with SQSTM1.				aggrephagy (GO:0035973)|positive regulation of macroautophagy (GO:0016239)	autophagic vacuole (GO:0005776)|cytoplasm (GO:0005737)|extrinsic component of membrane (GO:0019898)|inclusion body (GO:0016234)|nuclear envelope (GO:0005635)|PML body (GO:0016605)	1-phosphatidylinositol binding (GO:0005545)|beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity (GO:0003831)|metal ion binding (GO:0046872)	p.P3255S(1)		breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		TCAGGAGCTGGTGTTTCAGGA	0.318																																						ENST00000322366.6																			1	Substitution - Missense(1)	p.P3255S(1)	prostate(1)	breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						c.(9712-9714)Cca>Tca		WD repeat and FYVE domain containing 3							56	58	58					4																	85603587		2203	4300	6503	SO:0001583	missense	23001					cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding	g.chr4:85603587G>A	AB023210	CCDS3609.1	4q21.3	2013-01-09			ENSG00000163625	ENSG00000163625		"Zinc fingers, FYVE domain containing", "WD repeat domain containing"	20751	protein-coding gene	gene with protein product						10231032	Standard	NM_014991		Approved	KIAA0993, ALFY, ZFYVE25	uc003hpd.3	Q8IZQ1	OTTHUMG00000130424	ENST00000295888.4:c.9763C>T	4.37:g.85603587G>A	ENSP00000295888:p.Pro3255Ser					WDFY3_ENST00000295888.4_Missense_Mutation_p.P3255S	p.P3238S			Q8IZQ1	WDFY3_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000808)	63	10119	-		Hepatocellular(203;0.114)	3255					Q4W5K5|Q6P0Q5|Q8N1T2|Q8NAV6|Q96BS7|Q96D33|Q96N85|Q9Y2J7	Missense_Mutation	SNP	ENST00000295888.4	37	c.9712C>T	CCDS3609.1	.	.	.	.	.	.	.	.	.	.	G	19.31	3.802300	0.70682	.	.	ENSG00000163625	ENST00000322366;ENST00000295888	T;T	0.64260	-0.09;-0.09	5.98	5.98	0.97165	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.68109	0.2965	L	0.29908	0.895	0.80722	D	1	D	0.63880	0.993	D	0.72982	0.979	T	0.57631	-0.7778	10	0.06757	T	0.87	.	20.4561	0.99145	0.0:0.0:1.0:0.0	.	3255	Q8IZQ1	WDFY3_HUMAN	S	3238;3255	ENSP00000318466:P3238S;ENSP00000295888:P3255S	ENSP00000295888:P3255S	P	-	1	0	WDFY3	85822611	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.027000	0.93706	2.847000	0.97988	0.591000	0.81541	CCA		0.318	WDFY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252811.2	NM_014991		21	75	0	0	0	1	0	21	75					A	85603587	G	A	85603587	3	1	66	1	0	0	0	0	1	0	0	0	17267	1261	44	3	837	3	WDFY3	4	85603587	Missense_Mutation	SNP	G	TCGA-EJ-5518-01A-01D-1576-08		85603587	105550689	14	3341											
GRID2	2895	broad.mit.edu	37	chr4	94376877	94376877	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgaaaatgtggtggactttaCgacacgttacatggactact	12	12	10	7	2	0	1	0	1	0	0	0	4	0	3	0	3	3	1	0	3	5	4			TCGA-EJ-5518-01A-01D-1576-08	TCGA-EJ-5518-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4377528-6017-41d2-ae39-1f280a2294ad	3c8b1c7e-e15b-49d4-b5bb-4f4a05e92f20	g.chr4:94376877C>T	ENST00000282020.4	+	11	1868	c.1610C>T	c.(1609-1611)aCg>aTg	p.T537M	GRID2_ENST00000510992.1_Missense_Mutation_p.T442M	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	537					cellular protein localization (GO:0034613)|cerebellar granule cell differentiation (GO:0021707)|glutamate receptor signaling pathway (GO:0007215)|heterophilic cell-cell adhesion (GO:0007157)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|prepulse inhibition (GO:0060134)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of neuron apoptotic process (GO:0043523)|regulation of neuron projection development (GO:0010975)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|ionotropic glutamate receptor complex (GO:0008328)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|ionotropic glutamate receptor activity (GO:0004970)|PDZ domain binding (GO:0030165)|scaffold protein binding (GO:0097110)	p.T537M(2)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)		GTGGACTTTACGACACGTTAC	0.433																																						ENST00000282020.4																			2	Substitution - Missense(2)	p.T537M(2)	prostate(1)|kidney(1)	NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100						c.(1609-1611)aCg>aTg		glutamate receptor, ionotropic, delta 2	L-Glutamic Acid(DB00142)						145	132	136					4																	94376877		2203	4300	6503	SO:0001583	missense	2895				glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity	g.chr4:94376877C>T	AF009014	CCDS3637.1, CCDS68758.1	4q22	2012-08-29			ENSG00000152208	ENSG00000152208		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4576	protein-coding gene	gene with protein product		602368				9465309	Standard	NM_001510		Approved	GluD2, GluR-delta-2	uc011cdt.2	O43424	OTTHUMG00000130975	ENST00000282020.4:c.1610C>T	4.37:g.94376877C>T	ENSP00000282020:p.Thr537Met					GRID2_ENST00000510992.1_Missense_Mutation_p.T442M	p.T537M	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	11	1868	+		Hepatocellular(203;0.114)|all_hematologic(202;0.177)	537					E9PH24|Q4KKU8|Q4KKU9|Q4KKV0|Q59FZ1	Missense_Mutation	SNP	ENST00000282020.4	37	c.1610C>T	CCDS3637.1	.	.	.	.	.	.	.	.	.	.	C	28.7	4.944581	0.92593	.	.	ENSG00000152208	ENST00000282020;ENST00000510992	T;T	0.16457	2.34;2.34	5.97	5.97	0.96955	Extracellular solute-binding protein, family 3 (1);Ionotropic glutamate receptor (1);	0.000000	0.85682	D	0.000000	T	0.55561	0.1928	M	0.93062	3.375	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.64334	-0.6432	10	0.87932	D	0	.	20.4388	0.99107	0.0:1.0:0.0:0.0	.	442;537	E9PH24;O43424	.;GRID2_HUMAN	M	537;442	ENSP00000282020:T537M;ENSP00000421257:T442M	ENSP00000282020:T537M	T	+	2	0	GRID2	94595900	1.000000	0.71417	0.998000	0.56505	0.987000	0.75469	4.947000	0.63583	2.836000	0.97738	0.655000	0.94253	ACG		0.433	GRID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253588.2			46	114	0	0	0	1	0	46	114					T	94376877	C	T	94376877	3	4	66	1	0	0	0	0	1	0	0	0	6772	536	19	1	1652	1	GRID2	4	94376877	Missense_Mutation	SNP	C	TCGA-EJ-5518-01A-01D-1576-08	8773290	94376877	96777399	15	3342											
SCAMP1	9522	broad.mit.edu	37	chr5	77755186	77755186	+	Splice_Site	DEL	G	G	-																															cactagttatgttcaaaaaaGtaagtgaaattttatgtcta																										TCGA-EJ-5518-01A-01D-1576-08	TCGA-EJ-5518-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4377528-6017-41d2-ae39-1f280a2294ad	3c8b1c7e-e15b-49d4-b5bb-4f4a05e92f20	g.chr5:77755186delG	ENST00000339292.4	+	8	940		c.e8+1		SCAMP1_ENST00000538629.1_Splice_Site			O15126	SCAM1_HUMAN	secretory carrier membrane protein 1						endocytosis (GO:0006897)|exocytosis (GO:0006887)|post-Golgi vesicle-mediated transport (GO:0006892)|protein transport (GO:0015031)	clathrin-coated vesicle (GO:0030136)|integral component of membrane (GO:0016021)|recycling endosome membrane (GO:0055038)|synaptic vesicle membrane (GO:0030672)|trans-Golgi network (GO:0005802)|zymogen granule membrane (GO:0042589)							all_lung(232;0.000397)|Lung NSC(167;0.00105)|Ovarian(174;0.0105)|Prostate(461;0.214)		OV - Ovarian serous cystadenocarcinoma(54;1.9e-46)|Epithelial(54;9.4e-43)|all cancers(79;1.12e-37)		GTTCAAAAAAGTAAGTGAAAT	0.323																																						ENST00000538629.1																			0											c.e8+1		secretory carrier membrane protein 1							51	45	47					5																	77755186		1844	4089	5933	SO:0001630	splice_region_variant	9522				post-Golgi vesicle-mediated transport|protein transport	integral to membrane|recycling endosome membrane|trans-Golgi network	protein binding	g.chr5:77755186delG	AF038966	CCDS75264.1	5q14.1	2013-02-21			ENSG00000085365	ENSG00000085365		"Secretory carrier membrane proteins"	10563	protein-coding gene	gene with protein product		606911				9378760	Standard	NM_004866		Approved	SCAMP37	uc003kfl.3	O15126	OTTHUMG00000162479	ENST00000339292.4:c.940+1G>-	5.37:g.77755186delG						SCAMP1_ENST00000339292.4_Splice_Site		NM_004866.4	NP_004857.4	O15126	SCAM1_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;1.9e-46)|Epithelial(54;9.4e-43)|all cancers(79;1.12e-37)	8	1009	+		all_lung(232;0.000397)|Lung NSC(167;0.00105)|Ovarian(174;0.0105)|Prostate(461;0.214)						O43587|Q6FG23|Q96BX1|Q96QK5	Splice_Site	DEL	ENST00000339292.4	37																																																																																						0.323	SCAMP1-001	KNOWN	sequence_error|basic|exp_conf	processed_transcript	protein_coding	OTTHUMT00000369096.2	NM_004866	Intron	8	18						8	18	---	---	---	---	-	77755186	G	-	77755186	8	5	66	1	0	1	0	1	0	0	1	0	13870	1043	36	0	882	0	SCAMP1	5	77755186	Splice_Site	DEL	G	TCGA-EJ-5518-01A-01D-1576-08		77755186	103160074	16	3343											
RASGRF2	5924	broad.mit.edu	37	chr5	80513248	80513248	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttattgaagaaggaacaccaAactttactgaggaaggcctt	15	10	9	7	0	0	3	0	2	0	1	0	5	0	5	2	3	3	0	2	3	7	5			TCGA-EJ-5518-01A-01D-1576-08	TCGA-EJ-5518-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4377528-6017-41d2-ae39-1f280a2294ad	3c8b1c7e-e15b-49d4-b5bb-4f4a05e92f20	g.chr5:80513248A>C	ENST00000265080.4	+	25	3575	c.3508A>C	c.(3508-3510)Aac>Cac	p.N1170H	CKMT2-AS1_ENST00000503483.2_RNA|CKMT2-AS1_ENST00000511495.1_RNA	NM_006909.2	NP_008840.1	O14827	RGRF2_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 2	1170	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|plasma membrane (GO:0005886)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.N1170H(1)		biliary_tract(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(28)|ovary(5)|prostate(3)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75		Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357)		OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29)		AGGAACACCAAACTTTACTGA	0.403																																						ENST00000265080.4																			1	Substitution - Missense(1)	p.N1170H(1)	prostate(1)	biliary_tract(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(28)|ovary(5)|prostate(3)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75						c.(3508-3510)Aac>Cac		Ras protein-specific guanine nucleotide-releasing factor 2							136	137	137					5																	80513248		2203	4300	6503	SO:0001583	missense	5924				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|endoplasmic reticulum membrane|plasma membrane	protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr5:80513248A>C	AF023130	CCDS4052.1	5q13	2013-01-10			ENSG00000113319	ENSG00000113319		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	9876	protein-coding gene	gene with protein product		606614					Standard	NM_006909		Approved	GRF2, Ras-GRF2	uc003kha.2	O14827	OTTHUMG00000119015	ENST00000265080.4:c.3508A>C	5.37:g.80513248A>C	ENSP00000265080:p.Asn1170His					CTC-281B15.1_ENST00000511495.1_RNA|CTC-281B15.1_ENST00000503483.2_RNA	p.N1170H	NM_006909.2	NP_008840.1	O14827	RGRF2_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29)	25	3575	+		Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357)	1170			Ras-GEF.		B9EG89|Q9UK56	Missense_Mutation	SNP	ENST00000265080.4	37	c.3508A>C	CCDS4052.1	.	.	.	.	.	.	.	.	.	.	A	19.24	3.789724	0.70337	.	.	ENSG00000113319	ENST00000265080	T	0.32753	1.44	6.03	2.28	0.28536	Guanine-nucleotide dissociation stimulator CDC25 (4);Ras guanine-nucleotide exchange factor, conserved site (1);Ras guanine nucleotide exchange factor, domain (1);	0.089715	0.85682	D	0.000000	T	0.44159	0.1280	M	0.69358	2.11	0.50467	D	0.999876	D	0.59357	0.985	P	0.56788	0.806	T	0.33599	-0.9862	10	0.87932	D	0	.	9.8453	0.41024	0.8029:0.0:0.1971:0.0	.	1170	O14827	RGRF2_HUMAN	H	1170	ENSP00000265080:N1170H	ENSP00000265080:N1170H	N	+	1	0	RASGRF2	80549004	1.000000	0.71417	0.994000	0.49952	0.897000	0.52465	6.291000	0.72719	0.158000	0.19367	-0.250000	0.11733	AAC		0.403	RASGRF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239215.2	NM_006909		13	217	0	0	0	1	0	13	217					C	80513248	A	C	80513248	3	2	66	1	0	0	0	0	1	0	0	0	13073	14	1	5	3606	5	RASGRF2	5	80513248	Missense_Mutation	SNP	A	TCGA-EJ-5518-01A-01D-1576-08	2758062	80513248	100402012	17	3344											
FBN2	2201	broad.mit.edu	37	chr5	127855010	127855010	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acccataaacacaagcacagCggttgggtccgatgcaacgt	13	6	10	12	3	0	0	0	0	0	0	1	1	1	0	2	2	5	3	2	2	4	2			TCGA-EJ-5518-01A-01D-1576-08	TCGA-EJ-5518-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4377528-6017-41d2-ae39-1f280a2294ad	3c8b1c7e-e15b-49d4-b5bb-4f4a05e92f20	g.chr5:127855010C>T	ENST00000508053.1	-	11	1558	c.584G>A	c.(583-585)cGc>cAc	p.R195H	FBN2_ENST00000508989.1_Missense_Mutation_p.R162H|FBN2_ENST00000262464.4_Missense_Mutation_p.R195H			P35556	FBN2_HUMAN	fibrillin 2	195	EGF-like 3. {ECO:0000255|PROSITE- ProRule:PRU00076}.			GPNR -> AQP (in Ref. 1; AAA18950). {ECO:0000305}.	anatomical structure morphogenesis (GO:0009653)|bone trabecula formation (GO:0060346)|embryonic limb morphogenesis (GO:0030326)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|sequestering of TGFbeta in extracellular matrix (GO:0035583)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)	p.R195H(2)		NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		ACAAGCACAGCGGTTGGGTCC	0.408																																						ENST00000508053.1																			2	Substitution - Missense(2)	p.R195H(2)	prostate(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197						c.(583-585)cGc>cAc		fibrillin 2							80	76	77					5																	127855010		2203	4300	6503	SO:0001583	missense	2201				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent	g.chr5:127855010C>T	U03272	CCDS34222.1	5q23-q31	2008-08-01	2008-08-01			ENSG00000138829			3604	protein-coding gene	gene with protein product	"fibrillin 5"	612570	"congenital contractural arachnodactyly"	CCA		1852206, 8120105	Standard	NM_001999		Approved	DA9	uc003kuu.3	P35556		ENST00000508053.1:c.584G>A	5.37:g.127855010C>T	ENSP00000424571:p.Arg195His					FBN2_ENST00000508989.1_Missense_Mutation_p.R162H|FBN2_ENST00000262464.4_Missense_Mutation_p.R195H	p.R195H			P35556	FBN2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)	11	1558	-		all_cancers(142;0.0216)|Prostate(80;0.0551)	195	GPNR -> AQP (in Ref. 1; AAA18950).		EGF-like 3.		B4DU01|Q59ES6	Missense_Mutation	SNP	ENST00000508053.1	37	c.584G>A	CCDS34222.1	.	.	.	.	.	.	.	.	.	.	C	31	5.059643	0.93846	.	.	ENSG00000138829	ENST00000262464;ENST00000508053;ENST00000508989;ENST00000502468	D;D;D;T	0.91792	-2.91;-2.91;-2.91;0.12	5.17	5.17	0.71159	Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.64402	D	0.000001	D	0.95040	0.8394	L	0.54863	1.705	0.58432	D	0.999999	D;D;D;D	0.89917	1.0;1.0;0.999;0.999	D;D;D;D	0.87578	0.998;0.997;0.987;0.987	D	0.94473	0.7686	10	0.51188	T	0.08	.	18.8636	0.92282	0.0:1.0:0.0:0.0	.	162;195;162;195	P35556-2;E9PHW4;D6RJI3;P35556	.;.;.;FBN2_HUMAN	H	195;195;162;195	ENSP00000262464:R195H;ENSP00000424571:R195H;ENSP00000425596:R162H;ENSP00000424753:R195H	ENSP00000262464:R195H	R	-	2	0	FBN2	127882909	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.554000	0.82212	2.861000	0.98227	0.655000	0.94253	CGC		0.408	FBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371618.2	NM_001999		5	82	0	0	0	1	0	5	82					T	127855010	C	T	127855010	3	4	66	1	0	0	0	0	1	0	0	0	5703	768	27	1	8398	1	FBN2	5	127855010	Missense_Mutation	SNP	C	TCGA-EJ-5518-01A-01D-1576-08	47341762	127855010	53060250	18	3345											
SLC25A27	9481	broad.mit.edu	37	chr6	46623671	46623671	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gacggtgcaagagaatctgcCccctataggggaatggtgcg	10	7	15	9	2	1	1	0	0	1	1	1	4	1	2	2	4	3	1	2	4	5	2			TCGA-EJ-5518-01A-01D-1576-08	TCGA-EJ-5518-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4377528-6017-41d2-ae39-1f280a2294ad	3c8b1c7e-e15b-49d4-b5bb-4f4a05e92f20	g.chr6:46623671C>A	ENST00000371347.5	+	2	450	c.198C>A	c.(196-198)gcC>gcA	p.A66A	SLC25A27_ENST00000411689.2_Silent_p.A66A|SLC25A27_ENST00000452689.2_5'UTR	NM_001204051.1|NM_004277.4	NP_001190980.1|NP_004268.3	O95847	UCP4_HUMAN	solute carrier family 25, member 27	66					cellular triglyceride homeostasis (GO:0035356)|generation of precursor metabolites and energy (GO:0006091)|inner ear development (GO:0048839)|negative regulation of apoptotic process (GO:0043066)|negative regulation of mitochondrial calcium ion concentration (GO:0051562)|negative regulation of mitochondrial membrane potential (GO:0010917)|neuron death (GO:0070997)|positive regulation of cell proliferation (GO:0008284)|regulation of glucose import (GO:0046324)|transport (GO:0006810)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)		p.A66A(1)		central_nervous_system(1)|kidney(1)|lung(4)|prostate(1)|urinary_tract(1)	8			Lung(136;0.192)			GAGAATCTGCCCCCTATAGGG	0.502																																						ENST00000371347.5																			1	Substitution - coding silent(1)	p.A66A(1)	prostate(1)	central_nervous_system(1)|kidney(1)|lung(4)|prostate(1)|urinary_tract(1)	8						c.(196-198)gcC>gcA		solute carrier family 25, member 27							103	105	104					6																	46623671		1887	4112	5999	SO:0001819	synonymous_variant	9481				generation of precursor metabolites and energy|transport	integral to membrane|mitochondrial inner membrane		g.chr6:46623671C>A	AK090871	CCDS43470.1, CCDS56431.1	6p12.3	2013-05-22			ENSG00000153291	ENSG00000153291		"Solute carriers"	21065	protein-coding gene	gene with protein product		613725				10025957, 10772343	Standard	NM_004277		Approved	UCP4, FLJ33552	uc003oyh.3	O95847	OTTHUMG00000014786	ENST00000371347.5:c.198C>A	6.37:g.46623671C>A						SLC25A27_ENST00000452689.2_5'UTR|SLC25A27_ENST00000411689.2_Silent_p.A66A	p.A66A	NM_001204051.1|NM_004277.4	NP_001190980.1|NP_004268.3	O95847	UCP4_HUMAN	Lung(136;0.192)		2	450	+			66					F5GWR4|Q5VTS9|Q8N518	Silent	SNP	ENST00000371347.5	37	c.198C>A	CCDS43470.1																																																																																				0.502	SLC25A27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040791.1	NM_004277		4	140	1	0	0.014758	1	0.0153563	4	140					A	46623671	C	A	46623671	2	1	66	1	0	0	0	0	0	0	0	1	14490	610	22	5		5	SLC25A27	6	46623671	Silent	SNP	C	TCGA-EJ-5518-01A-01D-1576-08		46623671	124491396	19	3346											
ABCA13	154664	broad.mit.edu	37	chr7	48315047	48315047	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cataagatattaccgtttgtCccaccttcaataaatcaaac	15	12	3	11	1	2	1	2	0	0	1	3	1	3	1	3	0	2	1	3	0	7	6			TCGA-EJ-5518-01A-01D-1576-08	TCGA-EJ-5518-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4377528-6017-41d2-ae39-1f280a2294ad	3c8b1c7e-e15b-49d4-b5bb-4f4a05e92f20	g.chr7:48315047C>T	ENST00000435803.1	+	17	5808	c.5784C>T	c.(5782-5784)gtC>gtT	p.V1928V		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	1928					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)	p.V1928V(2)|p.V1873V(1)		breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						TACCGTTTGTCCCACCTTCAA	0.363																																						ENST00000435803.1																			3	Substitution - coding silent(3)	p.V1928V(2)|p.V1873V(1)	prostate(3)	breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						c.(5782-5784)gtC>gtT		ATP-binding cassette, sub-family A (ABC1), member 13							122	123	123					7																	48315047		1827	4090	5917	SO:0001819	synonymous_variant	154664				transport	integral to membrane	ATP binding|ATPase activity	g.chr7:48315047C>T	AY204751	CCDS47584.1	7p12.3	2012-03-14			ENSG00000179869	ENSG00000179869		"ATP binding cassette transporters / subfamily A"	14638	protein-coding gene	gene with protein product		607807				12697998	Standard	NM_152701		Approved	FLJ33876, FLJ33951	uc003toq.2	Q86UQ4	OTTHUMG00000155840	ENST00000435803.1:c.5784C>T	7.37:g.48315047C>T							p.V1928V	NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN			17	5808	+			1928					K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Silent	SNP	ENST00000435803.1	37	c.5784C>T	CCDS47584.1																																																																																				0.363	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341964.2	NM_152701		88	250	0	0	0	1	0	88	250					T	48315047	C	T	48315047	2	4	66	1	0	0	0	0	0	0	0	1	31	842	30	3		3	ABCA13	7	48315047	Silent	SNP	C	TCGA-EJ-5518-01A-01D-1576-08		48315047	110823616	20	3347											
LRRC17	10234	broad.mit.edu	37	chr7	102574825	102574825	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttcatttacacacctctcttGagctacctgcgtctttatga	8	16	5	12	1	3	2	1	2	2	0	4	2	3	2	2	0	4	1	2	0	3	7			TCGA-EJ-5518-01A-01D-1576-08	TCGA-EJ-5518-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4377528-6017-41d2-ae39-1f280a2294ad	3c8b1c7e-e15b-49d4-b5bb-4f4a05e92f20	g.chr7:102574825G>C	ENST00000339431.4	+	2	760	c.465G>C	c.(463-465)ttG>ttC	p.L155F	LRRC17_ENST00000249377.4_Missense_Mutation_p.L155F|FBXL13_ENST00000379306.3_Intron|FBXL13_ENST00000313221.4_Intron|FBXL13_ENST00000455112.2_Intron|FBXL13_ENST00000456695.1_Intron|FBXL13_ENST00000436908.1_Intron|FBXL13_ENST00000393772.2_Intron|FBXL13_ENST00000379308.3_Intron|FBXL13_ENST00000379305.3_Intron	NM_001031692.2	NP_001026862.1	Q8N6Y2	LRC17_HUMAN	leucine rich repeat containing 17	155					bone marrow development (GO:0048539)|negative regulation of osteoclast differentiation (GO:0045671)|ossification (GO:0001503)	extracellular space (GO:0005615)		p.L155F(1)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	17						CACCTCTCTTGAGCTACCTGC	0.458																																						ENST00000249377.4																			1	Substitution - Missense(1)	p.L155F(1)	prostate(1)	NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	17						c.(463-465)ttG>ttC		leucine rich repeat containing 17							142	137	138					7																	102574825		2203	4300	6503	SO:0001583	missense	10234				bone marrow development|negative regulation of osteoclast differentiation|ossification	extracellular space		g.chr7:102574825G>C	U32907	CCDS5727.1, CCDS34721.1	7q22.1	2009-05-26			ENSG00000128606	ENSG00000128606			16895	protein-coding gene	gene with protein product						8982252, 19336404	Standard	NM_005824		Approved	P37NB, H_RG318M05.3	uc003vau.3	Q8N6Y2	OTTHUMG00000157210	ENST00000339431.4:c.465G>C	7.37:g.102574825G>C	ENSP00000344242:p.Leu155Phe					FBXL13_ENST00000456695.1_Intron|FBXL13_ENST00000379305.3_Intron|FBXL13_ENST00000455112.2_Intron|FBXL13_ENST00000393772.2_Intron|LRRC17_ENST00000339431.4_Missense_Mutation_p.L155F|FBXL13_ENST00000436908.1_Intron|FBXL13_ENST00000313221.4_Intron|FBXL13_ENST00000379308.3_Intron|FBXL13_ENST00000379306.3_Intron	p.L155F	NM_005824.2	NP_005815.2	Q8N6Y2	LRC17_HUMAN			2	746	+			155					Q13288|Q6UWA7|Q75MG5	Missense_Mutation	SNP	ENST00000339431.4	37	c.465G>C	CCDS34721.1	.	.	.	.	.	.	.	.	.	.	G	17.38	3.374203	0.61735	.	.	ENSG00000128606	ENST00000339431;ENST00000249377	T;D	0.94966	1.68;-3.57	5.41	2.47	0.30058	.	0.000000	0.43919	D	0.000502	D	0.97250	0.9101	H	0.94264	3.515	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.95547	0.8617	10	0.87932	D	0	-11.4443	5.2543	0.15539	0.182:0.3649:0.4531:0.0	.	155;155	Q8N6Y2;Q8N6Y2-2	LRC17_HUMAN;.	F	155	ENSP00000344242:L155F;ENSP00000249377:L155F	ENSP00000249377:L155F	L	+	3	2	LRRC17	102362061	0.935000	0.31712	1.000000	0.80357	0.989000	0.77384	0.624000	0.24462	0.721000	0.32231	0.557000	0.71058	TTG		0.458	LRRC17-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347930.1	NM_005824		41	120	0	0	0	1	0	41	120					C	102574825	G	C	102574825	3	2	66	1	0	0	0	0	1	0	0	0	8973	1281	45	5	467	5	LRRC17	7	102574825	Missense_Mutation	SNP	G	TCGA-EJ-5518-01A-01D-1576-08	54259778	102574825	56563838	21	3348											
ADAMTS13	11093	broad.mit.edu	37	chr9	136324223	136324223	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaaggctcaggccagcctgcGgggccagtactggaccctcc	7	5	14	15	1	1	0	1	0	0	0	2	2	2	1	5	5	3	2	5	5	2	1			TCGA-EJ-5518-01A-01D-1576-08	TCGA-EJ-5518-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4377528-6017-41d2-ae39-1f280a2294ad	3c8b1c7e-e15b-49d4-b5bb-4f4a05e92f20	g.chr9:136324223G>A	ENST00000371929.3	+	29	4649	c.4205G>A	c.(4204-4206)cGg>cAg	p.R1402Q	CACFD1_ENST00000316948.4_5'Flank|CACFD1_ENST00000291722.7_5'Flank|ADAMTS13_ENST00000355699.2_Missense_Mutation_p.R1346Q|ADAMTS13_ENST00000371916.1_3'UTR|CACFD1_ENST00000540581.1_5'Flank|CACFD1_ENST00000542192.1_5'Flank|ADAMTS13_ENST00000485925.1_3'UTR|ADAMTS13_ENST00000356589.2_Missense_Mutation_p.R1315Q|ADAMTS13_ENST00000371910.1_Missense_Mutation_p.R198Q	NM_139025.3|NM_139027.3	NP_620594.1|NP_620596.2	Q76LX8	ATS13_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 13	1402	CUB 2.				cell-matrix adhesion (GO:0007160)|glycoprotein metabolic process (GO:0009100)|integrin-mediated signaling pathway (GO:0007229)|peptide catabolic process (GO:0043171)|platelet activation (GO:0030168)|protein processing (GO:0016485)|proteolysis (GO:0006508)|response to interferon-gamma (GO:0034341)|response to interleukin-4 (GO:0070670)|response to tumor necrosis factor (GO:0034612)	cell surface (GO:0009986)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.R1402Q(2)		central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(4)	36				OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05)		GCCAGCCTGCGGGGCCAGTAC	0.587																																						ENST00000371929.3																			2	Substitution - Missense(2)	p.R1402Q(2)	prostate(2)	central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(4)	36						c.(4204-4206)cGg>cAg		ADAM metallopeptidase with thrombospondin type 1 motif, 13							39	36	37					9																	136324223		2200	4300	6500	SO:0001583	missense	11093				cell-matrix adhesion|glycoprotein metabolic process|integrin-mediated signaling pathway|peptide catabolic process|platelet activation|protein processing|proteolysis	cell surface|proteinaceous extracellular matrix	calcium ion binding|integrin binding|metalloendopeptidase activity|zinc ion binding	g.chr9:136324223G>A	AJ011374	CCDS6970.1, CCDS6971.1, CCDS6972.1	9q34	2008-07-21	2005-08-19	2001-09-21	ENSG00000160323	ENSG00000160323		"ADAM metallopeptidases with thrombospondin type 1 motif"	1366	protein-coding gene	gene with protein product		604134	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 13"	C9orf8		11557746, 11535495	Standard	NM_139025		Approved	VWFCP, TTP, vWF-CP, FLJ42993, MGC118899, MGC118900, DKFZp434C2322	uc004cdv.4	Q76LX8	OTTHUMG00000020876	ENST00000371929.3:c.4205G>A	9.37:g.136324223G>A	ENSP00000360997:p.Arg1402Gln					ADAMTS13_ENST00000485925.1_3'UTR|ADAMTS13_ENST00000356589.2_Missense_Mutation_p.R1315Q|ADAMTS13_ENST00000371910.1_Missense_Mutation_p.R198Q|ADAMTS13_ENST00000371916.1_3'UTR|ADAMTS13_ENST00000355699.2_Missense_Mutation_p.R1346Q	p.R1402Q	NM_139025.3|NM_139027.3	NP_620594.1|NP_620596.2	Q76LX8	ATS13_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05)	29	4649	+			1402			CUB 2.		Q6UY16|Q710F6|Q711T8|Q96L37|Q9H0G3|Q9UGQ1	Missense_Mutation	SNP	ENST00000371929.3	37	c.4205G>A	CCDS6970.1	.	.	.	.	.	.	.	.	.	.	G	13.73	2.324465	0.41197	.	.	ENSG00000160323	ENST00000371929;ENST00000355699;ENST00000356589;ENST00000371910	T;T;T;T	0.52057	0.68;0.68;0.68;0.68	4.87	0.923	0.19413	CUB (1);	.	.	.	.	T	0.26195	0.0639	L	0.28192	0.835	0.44807	D	0.997811	P;P;P	0.44281	0.612;0.831;0.831	B;B;B	0.33042	0.078;0.157;0.157	T	0.02617	-1.1133	9	0.49607	T	0.09	.	6.8628	0.24076	0.3988:0.0:0.6012:0.0	.	1402;1315;1346	Q76LX8;Q76LX8-3;Q76LX8-2	ATS13_HUMAN;.;.	Q	1402;1346;1315;198	ENSP00000360997:R1402Q;ENSP00000347927:R1346Q;ENSP00000348997:R1315Q;ENSP00000360978:R198Q	ENSP00000347927:R1346Q	R	+	2	0	ADAMTS13	135314044	0.987000	0.35691	0.733000	0.30861	0.575000	0.36095	1.858000	0.39408	-0.108000	0.12066	-0.157000	0.13467	CGG		0.587	ADAMTS13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000054920.1	NM_139025		7	26	0	0	0	1	0	7	26					A	136324223	G	A	136324223	3	1	66	1	0	0	0	0	1	0	0	0	258	1116	39	2	4319	2	ADAMTS13	9	136324223	Missense_Mutation	SNP	G	TCGA-EJ-5518-01A-01D-1576-08		136324223	4889208	22	3349											
AGAP6	414189	broad.mit.edu	37	chr10	51754173	51754173	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agttgtagaaataagaagaaGcaactgtacaaaccatgtaa	20	8	8	5	0	0	3	0	0	0	3	0	3	0	3	1	0	4	5	1	0	9	5	rs569602183	byFrequency	TCGA-EJ-5518-01A-01D-1576-08	TCGA-EJ-5518-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4377528-6017-41d2-ae39-1f280a2294ad	3c8b1c7e-e15b-49d4-b5bb-4f4a05e92f20	g.chr10:51754173G>T	ENST00000374056.4	+	3	709	c.311G>T	c.(310-312)aGc>aTc	p.S104I	AGAP6_ENST00000412531.3_Missense_Mutation_p.S127I			Q5VW22	AGAP6_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 6	104					regulation of ARF GTPase activity (GO:0032312)		ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)	p.S127I(2)		NS(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(1)|lung(8)|prostate(3)|skin(1)|stomach(2)	29						ATAAGAAGAAGCAACTGTACA	0.269																																						ENST00000374056.4																			2	Substitution - Missense(2)	p.S127I(2)	prostate(1)|kidney(1)	NS(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(1)|lung(8)|prostate(3)|skin(1)|stomach(2)	29						c.(310-312)aGc>aTc		ArfGAP with GTPase domain, ankyrin repeat and PH domain 6							47	39	41					10																	51754173		692	1583	2275	SO:0001583	missense	414189				regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding	g.chr10:51754173G>T		CCDS44397.1	10q11.23	2013-01-10	2008-09-22	2008-09-22	ENSG00000204149	ENSG00000204149		"ADP-ribosylation factor GTPase activating proteins", "Pleckstrin homology (PH) domain containing", "Ankyrin repeat domain containing"	23466	protein-coding gene	gene with protein product			"centaurin, gamma-like family, member 3"	CTGLF3			Standard	NM_001077665		Approved	bA324H6.1	uc001jix.4	Q5VW22	OTTHUMG00000018220	ENST00000374056.4:c.311G>T	10.37:g.51754173G>T	ENSP00000363168:p.Ser104Ile					AGAP6_ENST00000412531.3_Missense_Mutation_p.S127I	p.S104I			C9IYN2	C9IYN2_HUMAN			3	709	+			127						Missense_Mutation	SNP	ENST00000374056.4	37	c.311G>T		.	.	.	.	.	.	.	.	.	.	G	3.288	-0.145481	0.06627	.	.	ENSG00000204149	ENST00000374056;ENST00000412531	D	0.88124	-2.34	1.7	0.742	0.18341	.	0.278236	0.34555	N	0.003870	D	0.82788	0.5113	M	0.75615	2.305	0.21020	N	0.99981	B	0.26935	0.164	B	0.19946	0.027	T	0.74839	-0.3528	10	0.72032	D	0.01	.	6.1199	0.20148	0.1849:0.0:0.8151:0.0	.	127	C9IYN2	.	I	127;104	ENSP00000400972:S104I	ENSP00000363168:S127I	S	+	2	0	AGAP6	51424179	1.000000	0.71417	0.936000	0.37596	0.258000	0.26162	1.038000	0.30254	0.263000	0.21812	0.184000	0.17185	AGC		0.269	AGAP6-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_001077665		4	99	1	0	0.00024832	1	0.000265564	4	99					T	51754173	G	T	51754173	3	4	66	1	0	0	0	0	1	0	0	0	372	971	34	5	394	5	AGAP6	10	51754173	Missense_Mutation	SNP	G	TCGA-EJ-5518-01A-01D-1576-08		51754173	83780574	23	3350											
SUPV3L1	6832	broad.mit.edu	37	chr10	70940278	70940278	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcagggccccagcgccgaCggcgacgtcggggccgagct	5	3	16	17	7	1	0	1	0	0	0	2	3	1	0	5	4	2	1	5	4	0	0			TCGA-EJ-5518-01A-01D-1576-08	TCGA-EJ-5518-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4377528-6017-41d2-ae39-1f280a2294ad	3c8b1c7e-e15b-49d4-b5bb-4f4a05e92f20	g.chr10:70940278C>T	ENST00000359655.4	+	1	291	c.231C>T	c.(229-231)gaC>gaT	p.D77D	SUPV3L1_ENST00000483572.1_3'UTR	NM_003171.3	NP_003162.2	Q8IYB8	SUV3_HUMAN	suppressor of var1, 3-like 1 (S. cerevisiae)	77					ATP catabolic process (GO:0006200)|chromatin maintenance (GO:0070827)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|mitochondrial mRNA catabolic process (GO:0000958)|mitochondrial mRNA surveillance (GO:0035946)|mitochondrial ncRNA surveillance (GO:0035945)|mitochondrial RNA 3'-end processing (GO:0000965)|mitochondrial RNA surveillance (GO:2000827)|mitochondrion morphogenesis (GO:0070584)|negative regulation of apoptotic process (GO:0043066)|positive regulation of cell growth (GO:0030307)|positive regulation of mitochondrial RNA catabolic process (GO:0000962)|RNA catabolic process (GO:0006401)	mitochondrial degradosome (GO:0045025)|mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	3'-5' RNA helicase activity (GO:0034458)|ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|RNA binding (GO:0003723)	p.D77D(1)		NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						CCAGCGCCGACGGCGACGTCG	0.652																																						ENST00000359655.4																			1	Substitution - coding silent(1)	p.D77D(1)	prostate(1)	NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						c.(229-231)gaC>gaT		suppressor of var1, 3-like 1 (S. cerevisiae)							47	55	53					10																	70940278		2203	4299	6502	SO:0001819	synonymous_variant	6832				DNA duplex unwinding	mitochondrial nucleoid|nucleus	ATP binding|DNA binding|DNA helicase activity|RNA binding	g.chr10:70940278C>T	AF042169	CCDS7287.1	10q22.1	2008-08-01	2001-11-28		ENSG00000156502	ENSG00000156502			11471	protein-coding gene	gene with protein product		605122	"suppressor of var1 (S.cerevisiae) 3-like 1"			9925937, 16176273	Standard	XM_005270068		Approved	SUV3	uc001jpe.1	Q8IYB8	OTTHUMG00000018375	ENST00000359655.4:c.231C>T	10.37:g.70940278C>T						SUPV3L1_ENST00000483572.1_3'UTR	p.D77D	NM_003171.3	NP_003162.2	Q8IYB8	SUV3_HUMAN			1	291	+			77					A8K301|O43630	Silent	SNP	ENST00000359655.4	37	c.231C>T	CCDS7287.1																																																																																				0.652	SUPV3L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048396.2	NM_003171		31	78	0	0	0	1	0	31	78					T	70940278	C	T	70940278	2	4	66	1	0	0	0	0	0	0	0	1	15399	535	19	1		1	SUPV3L1	10	70940278	Silent	SNP	C	TCGA-EJ-5518-01A-01D-1576-08	19186105	70940278	64594469	24	3351											
IFIT1	3434	broad.mit.edu	37	chr10	91162072	91162072	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcatcaggtcaaggatagtCtggagcaattgagatgtcac	13	10	11	7	0	5	1	4	1	1	1	5	4	5	3	0	3	1	1	0	3	3	2			TCGA-EJ-5518-01A-01D-1576-08	TCGA-EJ-5518-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4377528-6017-41d2-ae39-1f280a2294ad	3c8b1c7e-e15b-49d4-b5bb-4f4a05e92f20	g.chr10:91162072C>A	ENST00000371804.3	+	2	207	c.40C>A	c.(40-42)Ctg>Atg	p.L14M	IFIT1_ENST00000546318.1_5'UTR|LIPA_ENST00000371837.1_Intron	NM_001270927.1|NM_001548.4	NP_001257856.1|NP_001539.3	P09914	IFIT1_HUMAN	interferon-induced protein with tetratricopeptide repeats 1	14					cellular response to exogenous dsRNA (GO:0071360)|cellular response to type I interferon (GO:0071357)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|intracellular transport of viral protein in host cell (GO:0019060)|negative regulation of defense response to virus by host (GO:0050689)|negative regulation of helicase activity (GO:0051097)|negative regulation of protein binding (GO:0032091)|negative regulation of viral genome replication (GO:0045071)|positive regulation of viral genome replication (GO:0045070)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	RNA binding (GO:0003723)	p.L14M(1)		breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(2)|prostate(2)|upper_aerodigestive_tract(1)	15						CAAGGATAGTCTGGAGCAATT	0.353																																						ENST00000371804.3																			1	Substitution - Missense(1)	p.L14M(1)	prostate(1)	breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(2)|prostate(2)|upper_aerodigestive_tract(1)	15						c.(40-42)Ctg>Atg		interferon-induced protein with tetratricopeptide repeats 1							124	115	118					10																	91162072		2203	4300	6503	SO:0001583	missense	3434				cellular response to exogenous dsRNA|intracellular transport of viral proteins in host cell|negative regulation of defense response to virus by host|negative regulation of helicase activity|negative regulation of protein binding|negative regulation of viral genome replication|positive regulation of viral genome replication|response to virus|type I interferon-mediated signaling pathway	cytoplasm	protein binding	g.chr10:91162072C>A	M24594	CCDS31243.1, CCDS59220.1	10q23.31	2014-05-22			ENSG00000185745	ENSG00000185745		"Tetratricopeptide (TTC) repeat domain containing"	5407	protein-coding gene	gene with protein product		147690		G10P1, IFI56, IFNAI1		1377167, 3360121	Standard	NM_001548		Approved	GARG-16	uc001kgi.4	P09914	OTTHUMG00000018712	ENST00000371804.3:c.40C>A	10.37:g.91162072C>A	ENSP00000360869:p.Leu14Met					LIPA_ENST00000371837.1_Intron|IFIT1_ENST00000546318.1_5'UTR	p.L14M	NM_001270927.1|NM_001548.3	NP_001257856.1|NP_001539.3	P09914	IFIT1_HUMAN			2	207	+			14					B3KS50|D3DR31|Q5T7J1|Q96QM5	Missense_Mutation	SNP	ENST00000371804.3	37	c.40C>A	CCDS31243.1	.	.	.	.	.	.	.	.	.	.	C	17.35	3.368322	0.61513	.	.	ENSG00000185745	ENST00000371804	T	0.55760	0.5	5.02	3.17	0.36434	.	0.000000	0.64402	D	0.000003	T	0.73984	0.3657	M	0.89840	3.065	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.75348	-0.3349	10	0.62326	D	0.03	.	9.4205	0.38548	0.0:0.8236:0.0:0.1764	.	14;14	Q5T7J1;P09914	.;IFIT1_HUMAN	M	14	ENSP00000360869:L14M	ENSP00000360869:L14M	L	+	1	2	IFIT1	91152052	0.947000	0.32204	0.073000	0.20177	0.136000	0.21042	2.011000	0.40922	0.623000	0.30267	0.563000	0.77884	CTG		0.353	IFIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049302.1	NM_001548		17	144	1	0	4.7546e-09	1	5.38389e-09	17	144					A	91162072	C	A	91162072	3	1	66	1	0	0	0	0	1	0	0	0	7521	912	32	5	46	5	IFIT1	10	91162072	Missense_Mutation	SNP	C	TCGA-EJ-5518-01A-01D-1576-08	20221794	91162072	44372675	25	3352											
C10orf76	79591	broad.mit.edu	37	chr10	103789494	103789494	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tggactcctcgaatgagtgcGcacagggtctgcagaaatga	11	8	13	9	2	1	3	0	2	1	1	3	5	2	4	1	2	2	2	1	2	2	0			TCGA-EJ-5518-01A-01D-1576-08	TCGA-EJ-5518-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4377528-6017-41d2-ae39-1f280a2294ad	3c8b1c7e-e15b-49d4-b5bb-4f4a05e92f20	g.chr10:103789494G>A	ENST00000370033.4	-	5	434	c.315C>T	c.(313-315)tgC>tgT	p.C105C	C10orf76_ENST00000311122.5_Silent_p.C105C	NM_024541.2	NP_078817.2	Q5T2E6	CJ076_HUMAN	chromosome 10 open reading frame 76	105						integral component of membrane (GO:0016021)		p.C105C(2)		autonomic_ganglia(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(7)|prostate(2)|upper_aerodigestive_tract(2)	24		Colorectal(252;0.123)		Epithelial(162;2.41e-08)|all cancers(201;6.41e-07)		GAATGAGTGCGCACAGGGTCT	0.483																																						ENST00000370033.4																			2	Substitution - coding silent(2)	p.C105C(2)	prostate(2)	autonomic_ganglia(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(7)|prostate(2)|upper_aerodigestive_tract(2)	24						c.(313-315)tgC>tgT		chromosome 10 open reading frame 76							113	106	108					10																	103789494		1936	4139	6075	SO:0001819	synonymous_variant	79591					integral to membrane		g.chr10:103789494G>A	AK023176	CCDS41563.1	10q24.32	2008-10-21			ENSG00000120029	ENSG00000120029			25788	protein-coding gene	gene with protein product						14702039	Standard	NM_024541		Approved	FLJ13114	uc009xwy.1	Q5T2E6	OTTHUMG00000018943	ENST00000370033.4:c.315C>T	10.37:g.103789494G>A						C10orf76_ENST00000311122.5_Silent_p.C105C	p.C105C	NM_024541.2	NP_078817.2	Q5T2E6	CJ076_HUMAN		Epithelial(162;2.41e-08)|all cancers(201;6.41e-07)	5	434	-		Colorectal(252;0.123)	105					Q2TB87|Q9H8Z9	Silent	SNP	ENST00000370033.4	37	c.315C>T	CCDS41563.1																																																																																				0.483	C10orf76-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050007.1	NM_024541		4	141	0	0	0	1	0	4	141					A	103789494	G	A	103789494	2	1	66	1	0	0	0	0	0	0	0	1	1616	1079	38	1		1	C10orf76	10	103789494	Silent	SNP	G	TCGA-EJ-5518-01A-01D-1576-08	12627422	103789494	31745253	26	3353											
OR4A15	81328	broad.mit.edu	37	chr11	55135714	55135714	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acttgctctctgagaaaaagAccatttcctttcagggttgt	10	14	8	9	0	2	2	1	1	1	2	4	3	3	2	2	1	1	2	2	1	2	4			TCGA-EJ-5518-01A-01D-1576-08	TCGA-EJ-5518-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4377528-6017-41d2-ae39-1f280a2294ad	3c8b1c7e-e15b-49d4-b5bb-4f4a05e92f20	g.chr11:55135714A>T	ENST00000314706.3	+	1	355	c.355A>T	c.(355-357)Acc>Tcc	p.T119S		NM_001005275.1	NP_001005275.1	Q8NGL6	O4A15_HUMAN	olfactory receptor, family 4, subfamily A, member 15	119						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.T119S(1)		NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(48)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	71						TGAGAAAAAGACCATTTCCTT	0.388																																						ENST00000314706.3																			1	Substitution - Missense(1)	p.T119S(1)	prostate(1)	NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(48)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	71						c.(355-357)Acc>Tcc		olfactory receptor, family 4, subfamily A, member 15							154	153	153					11																	55135714		2201	4296	6497	SO:0001583	missense	81328				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55135714A>T	AB065776	CCDS31500.1	11q11	2012-08-09			ENSG00000181958	ENSG00000181958		"GPCR / Class A : Olfactory receptors"	15152	protein-coding gene	gene with protein product							Standard	NM_001005275		Approved		uc010rif.2	Q8NGL6	OTTHUMG00000166711	ENST00000314706.3:c.355A>T	11.37:g.55135714A>T	ENSP00000325065:p.Thr119Ser						p.T119S	NM_001005275.1	NP_001005275.1	Q8NGL6	O4A15_HUMAN			1	355	+			119					Q6IFL4|Q96R65	Missense_Mutation	SNP	ENST00000314706.3	37	c.355A>T	CCDS31500.1	.	.	.	.	.	.	.	.	.	.	a	8.253	0.809415	0.16537	.	.	ENSG00000181958	ENST00000314706	T	0.00527	6.79	3.48	1.01	0.19927	GPCR, rhodopsin-like superfamily (1);	0.000000	0.51477	D	0.000087	T	0.00468	0.0015	L	0.47016	1.485	0.09310	N	0.999999	P	0.41784	0.762	B	0.43194	0.411	T	0.51403	-0.8710	10	0.45353	T	0.12	.	3.8913	0.09120	0.7021:0.0:0.1124:0.1856	.	119	Q8NGL6	O4A15_HUMAN	S	119	ENSP00000325065:T119S	ENSP00000325065:T119S	T	+	1	0	OR4A15	54892290	0.000000	0.05858	0.010000	0.14722	0.273000	0.26683	-0.289000	0.08365	0.004000	0.14682	0.403000	0.27427	ACC		0.388	OR4A15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391161.1	NM_001005275		11	364	0	0	0	1	0	11	364					T	55135714	A	T	55135714	3	4	66	1	0	0	0	0	1	0	0	0	11040	275	10	5	357	5	OR4A15	11	55135714	Missense_Mutation	SNP	A	TCGA-EJ-5518-01A-01D-1576-08		55135714	79870802	27	3354											
ATM	472	broad.mit.edu	37	chr11	108180931	108180931	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgatgctttctggctggattTaaattatctagaagttgcca	10	16	9	6	0	2	2	0	1	2	1	2	3	2	3	1	2	2	3	1	2	5	6			TCGA-EJ-5518-01A-01D-1576-08	TCGA-EJ-5518-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4377528-6017-41d2-ae39-1f280a2294ad	3c8b1c7e-e15b-49d4-b5bb-4f4a05e92f20	g.chr11:108180931T>C	ENST00000452508.2	+	40	5996	c.5807T>C	c.(5806-5808)tTa>tCa	p.L1936S	ATM_ENST00000278616.4_Missense_Mutation_p.L1936S|C11orf65_ENST00000525729.1_Intron			Q13315	ATM_HUMAN	ATM serine/threonine kinase	1936					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|DNA damage induced protein phosphorylation (GO:0006975)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|heart development (GO:0007507)|histone mRNA catabolic process (GO:0071044)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|lipoprotein catabolic process (GO:0042159)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of B cell proliferation (GO:0030889)|neuron apoptotic process (GO:0051402)|oocyte development (GO:0048599)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of neuron apoptotic process (GO:0043525)|pre-B cell allelic exclusion (GO:0002331)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reciprocal meiotic recombination (GO:0007131)|replicative senescence (GO:0090399)|response to hypoxia (GO:0001666)|response to ionizing radiation (GO:0010212)|signal transduction (GO:0007165)|signal transduction involved in mitotic G2 DNA damage checkpoint (GO:0072434)|somitogenesis (GO:0001756)|telomere maintenance (GO:0000723)	cytoplasmic vesicle (GO:0031410)|nucleoplasm (GO:0005654)|spindle (GO:0005819)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|histone serine kinase activity (GO:0035174)|protein complex binding (GO:0032403)|protein dimerization activity (GO:0046983)|protein N-terminus binding (GO:0047485)|protein serine/threonine kinase activity (GO:0004674)	p.L1936S(2)		NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	Caffeine(DB00201)	TGGCTGGATTTAAATTATCTA	0.318			"D, Mis, N, F, S"		T-PLL	"leukemia, lymphoma, medulloblastoma, glioma"		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)																												ENST00000278616.4			yes	Rec	yes	Ataxia-telangiectasia	11	11q22.3	472	"D, Mis, N, F, S"	ataxia telangiectasia mutated			"L, O"		"leukemia, lymphoma, medulloblastoma, glioma"	T-PLL		2	Substitution - Missense(2)	p.L1936S(2)	prostate(2)	NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448						c.(5806-5808)tTa>tCa	Genes defective in diseases associated with sensitivity to DNA damaging agents	ataxia telangiectasia mutated							70	74	73					11																	108180931		2201	4297	6498	SO:0001583	missense	472	Ataxia Telangiectasia	Familial Cancer Database	AT, Louis-Bar syndrome	cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding	g.chr11:108180931T>C	AB209133	CCDS31669.1	11q22-q23	2014-09-17	2014-06-17		ENSG00000149311	ENSG00000149311			795	protein-coding gene	gene with protein product	"TEL1, telomere maintenance 1, homolog (S. cerevisiae)"	607585	"ataxia telangiectasia mutated (includes complementation groups A, C and D)", "ataxia telangiectasia mutated"	ATA, ATDC, ATC, ATD			Standard	XM_005271561		Approved	TEL1, TELO1	uc001pkb.1	Q13315	OTTHUMG00000166480	ENST00000452508.2:c.5807T>C	11.37:g.108180931T>C	ENSP00000388058:p.Leu1936Ser	TSP Lung(14;0.12)				C11orf65_ENST00000525729.1_Intron|ATM_ENST00000452508.2_Missense_Mutation_p.L1936S	p.L1936S	NM_000051.3	NP_000042.3	Q13315	ATM_HUMAN		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	39	6192	+		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)	1936					B2RNX5|O15429|Q12758|Q16551|Q93007|Q9NP02|Q9UCX7	Missense_Mutation	SNP	ENST00000452508.2	37	c.5807T>C	CCDS31669.1	.	.	.	.	.	.	.	.	.	.	T	16.70	3.195943	0.58126	.	.	ENSG00000149311	ENST00000278616;ENST00000452508	T;T	0.80214	-1.35;-1.35	5.7	5.7	0.88788	Armadillo-type fold (1);	0.066576	0.64402	D	0.000009	D	0.88020	0.6325	M	0.78049	2.395	0.80722	D	1	P;D	0.57257	0.955;0.979	P;P	0.57776	0.809;0.827	D	0.89616	0.3845	10	0.87932	D	0	.	15.9668	0.79979	0.0:0.0:0.0:1.0	.	588;1936	E9PFP9;Q13315	.;ATM_HUMAN	S	1936	ENSP00000278616:L1936S;ENSP00000388058:L1936S	ENSP00000278616:L1936S	L	+	2	0	ATM	107686141	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	7.402000	0.79972	2.173000	0.68751	0.455000	0.32223	TTA		0.318	ATM-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389938.1	NM_000051		37	91	0	0	0	1	0	37	91					C	108180931	T	C	108180931	3	2	66	1	0	0	0	0	1	0	0	0	1109	1764	61	4	5957	4	ATM	11	108180931	Missense_Mutation	SNP	T	TCGA-EJ-5518-01A-01D-1576-08	53045217	108180931	26825585	28	3355											
USP28	57646	broad.mit.edu	37	chr11	113704218	113704218	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggtctacaaattttctatttGatcccatcattagagcaaac	13	14	5	9	0	3	2	1	1	2	1	4	2	4	2	1	1	3	1	1	1	5	6			TCGA-EJ-5518-01A-01D-1576-08	TCGA-EJ-5518-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4377528-6017-41d2-ae39-1f280a2294ad	3c8b1c7e-e15b-49d4-b5bb-4f4a05e92f20	g.chr11:113704218G>C	ENST00000003302.4	-	7	751	c.683C>G	c.(682-684)tCa>tGa	p.S228*	USP28_ENST00000537706.1_Nonsense_Mutation_p.S228*|USP28_ENST00000545540.1_Nonsense_Mutation_p.S103*|USP28_ENST00000260188.5_Nonsense_Mutation_p.S228*|USP28_ENST00000542033.1_5'UTR	NM_020886.2	NP_065937.1	Q96RU2	UBP28_HUMAN	ubiquitin specific peptidase 28	228	USP.				cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|protein deubiquitination (GO:0016579)|response to ionizing radiation (GO:0010212)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)	p.S228*(2)		breast(4)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(24)|ovary(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	59		all_cancers(61;3.74e-18)|all_epithelial(67;3.75e-11)|Melanoma(852;1.46e-05)|all_hematologic(158;4.65e-05)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|Prostate(24;0.0153)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|Epithelial(105;0.000122)|all cancers(92;0.00104)		TTTTCTATTTGATCCCATCAT	0.383																																					Melanoma(4;162 555 7664)|GBM(79;500 2010 17506)|Esophageal Squamous(9;463 924 15765)	ENST00000003302.4																			2	Substitution - Nonsense(2)	p.S228*(2)	prostate(2)	breast(4)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(24)|ovary(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	59						c.(682-684)tCa>tGa		ubiquitin specific peptidase 28							109	109	109					11																	113704218		2201	4296	6497	SO:0001587	stop_gained	57646				cell proliferation|DNA damage checkpoint|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA repair|protein deubiquitination|response to ionizing radiation|ubiquitin-dependent protein catabolic process	nucleolus|nucleoplasm	protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr11:113704218G>C	AB040948	CCDS31680.1, CCDS73394.1	11q23	2008-04-11	2005-08-08		ENSG00000048028	ENSG00000048028		"Ubiquitin-specific peptidases"	12625	protein-coding gene	gene with protein product		610748	"ubiquitin specific protease 28"			12838346, 11597335	Standard	XM_005271630		Approved	KIAA1515	uc001poh.3	Q96RU2	OTTHUMG00000168205	ENST00000003302.4:c.683C>G	11.37:g.113704218G>C	ENSP00000003302:p.Ser228*					USP28_ENST00000537706.1_Nonsense_Mutation_p.S228*|USP28_ENST00000260188.5_Nonsense_Mutation_p.S228*|USP28_ENST00000545540.1_Nonsense_Mutation_p.S103*|USP28_ENST00000542033.1_5'UTR	p.S228*	NM_020886.2	NP_065937.1	Q96RU2	UBP28_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|Epithelial(105;0.000122)|all cancers(92;0.00104)	7	751	-		all_cancers(61;3.74e-18)|all_epithelial(67;3.75e-11)|Melanoma(852;1.46e-05)|all_hematologic(158;4.65e-05)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|Prostate(24;0.0153)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)	228					B0YJC0|B0YJC1|Q9P213	Nonsense_Mutation	SNP	ENST00000003302.4	37	c.683C>G	CCDS31680.1	.	.	.	.	.	.	.	.	.	.	G	39	7.565222	0.98361	.	.	ENSG00000048028	ENST00000003302;ENST00000260188;ENST00000545540;ENST00000537706;ENST00000537642	.	.	.	4.74	3.81	0.43845	.	0.209202	0.43110	D	0.000620	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-0.942	14.3186	0.66470	0.0:0.0:0.8504:0.1496	.	.	.	.	X	228;228;103;228;127	.	ENSP00000003302:S228X	S	-	2	0	USP28	113209428	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.228000	0.95250	1.216000	0.43427	0.558000	0.71614	TCA		0.383	USP28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398789.1			5	123	0	0	0	1	0	5	123					C	113704218	G	C	113704218	4	2	66	1	0	0	0	0	0	1	0	0	17055	1294	45	5	2626	5	USP28	11	113704218	Nonsense_Mutation	SNP	G	TCGA-EJ-5518-01A-01D-1576-08	5523287	113704218	21302298	29	3356											
CDKN1B	1027	broad.mit.edu	37	chr12	12870993	12870994	+	Frame_Shift_Ins	INS	-	-	A																															caaacccctagagggcaagtINSacgagtggcaagaggtggag																										TCGA-EJ-5518-01A-01D-1576-08	TCGA-EJ-5518-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4377528-6017-41d2-ae39-1f280a2294ad	3c8b1c7e-e15b-49d4-b5bb-4f4a05e92f20	g.chr12:12870993_12870994insA	ENST00000228872.4	+	1	936_937	c.220_221insA	c.(220-222)tacfs	p.Y74fs	CDKN1B_ENST00000477087.1_Intron|CDKN1B_ENST00000396340.1_Frame_Shift_Ins_p.Y74fs	NM_004064.3	NP_004055.1	P46527	CDN1B_HUMAN	cyclin-dependent kinase inhibitor 1B (p27, Kip1)	74					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|autophagic cell death (GO:0048102)|cell cycle arrest (GO:0007050)|cellular response to antibiotic (GO:0071236)|cellular response to lithium ion (GO:0071285)|cellular response to organic cyclic compound (GO:0071407)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G1/S transition of mitotic cell cycle (GO:0000082)|innate immune response (GO:0045087)|inner ear development (GO:0048839)|mitotic cell cycle (GO:0000278)|mitotic cell cycle arrest (GO:0071850)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cellular component movement (GO:0051271)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|negative regulation of kinase activity (GO:0033673)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of phosphorylation (GO:0042326)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell death (GO:0010942)|positive regulation of cell proliferation (GO:0008284)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of protein catabolic process (GO:0045732)|potassium ion transport (GO:0006813)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|response to amino acid (GO:0043200)|response to cadmium ion (GO:0046686)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to glucose (GO:0009749)|response to hypoxia (GO:0001666)|response to peptide hormone (GO:0043434)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|protein phosphatase binding (GO:0019903)|transforming growth factor beta receptor, cytoplasmic mediator activity (GO:0005072)			breast(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(5)	13		Prostate(47;0.0322)|all_epithelial(100;0.159)		BRCA - Breast invasive adenocarcinoma(232;0.0336)		AGAGGGCAAGTACGAGTGGCAA	0.589																																						ENST00000228872.4																			0				breast(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(5)	13						c.(220-222)cgafs		cyclin-dependent kinase inhibitor 1B (p27, Kip1)																																				SO:0001589	frameshift_variant	1027				autophagic cell death|cell cycle arrest|cellular response to lithium ion|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of transcription, DNA-dependent|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of protein catabolic process|S phase of mitotic cell cycle	cytosol|endosome|nucleoplasm	cyclin-dependent protein kinase inhibitor activity|protein phosphatase binding|transforming growth factor beta receptor, cytoplasmic mediator activity	g.chr12:12870993_12870994insA	AF480891	CCDS8653.1	12p13.1-p12	2008-08-04			ENSG00000111276	ENSG00000111276			1785	protein-coding gene	gene with protein product		600778				8033212	Standard	NM_004064		Approved	KIP1, P27KIP1	uc001rat.2	P46527	OTTHUMG00000149914	ENST00000228872.4:c.221dupA	12.37:g.12870994_12870994dupA	ENSP00000228872:p.Tyr74fs					CDKN1B_ENST00000396340.1_Frame_Shift_Ins_p.R74fs|CDKN1B_ENST00000477087.1_Intron	p.R74fs	NM_004064.3	NP_004055.1	P46527	CDN1B_HUMAN		BRCA - Breast invasive adenocarcinoma(232;0.0336)	1	936_937	+		Prostate(47;0.0322)|all_epithelial(100;0.159)	74					Q16307|Q5U0H2|Q9BUS6	Frame_Shift_Ins	INS	ENST00000228872.4	37	c.220_221insA	CCDS8653.1																																																																																				0.589	CDKN1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313878.2	NM_004064		49	50						49	50	---	---	---	---	A	12870994	-	A	12870993	7	5	66	1	0	1	1	0	0	0	0	0	3159	1638	57	0	222	0	CDKN1B	12	12870993	Frame_Shift_Ins	INS	-	TCGA-EJ-5518-01A-01D-1576-08		12870993	120980902	30	3357											
NAV3	89795	broad.mit.edu	37	chr12	78515855	78515855	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gagtcaccgtcgtccggtacGggcagcatgggcagtgctgg	6	7	17	11	4	1	0	1	0	0	0	3	1	2	0	2	4	3	5	2	4	1	1	rs373904713		TCGA-EJ-5518-01A-01D-1576-08	TCGA-EJ-5518-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4377528-6017-41d2-ae39-1f280a2294ad	3c8b1c7e-e15b-49d4-b5bb-4f4a05e92f20	g.chr12:78515855G>T	ENST00000397909.2	+	16	4058	c.3885G>T	c.(3883-3885)acG>acT	p.T1295T	NAV3_ENST00000536525.2_Silent_p.T1295T|NAV3_ENST00000266692.7_Intron|NAV3_ENST00000228327.6_Silent_p.T1295T			Q8IVL0	NAV3_HUMAN	neuron navigator 3	1295	Ser-rich.					membrane (GO:0016020)|nuclear envelope (GO:0005635)		p.T1295T(2)		NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						CGTCCGGTACGGGCAGCATGG	0.532										HNSCC(70;0.22)																												ENST00000397909.2																			2	Substitution - coding silent(2)	p.T1295T(2)	prostate(2)	NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						c.(3883-3885)acG>acT		neuron navigator 3							50	51	51					12																	78515855		2111	4224	6335	SO:0001819	synonymous_variant	89795					nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity	g.chr12:78515855G>T	AB023155	CCDS41815.1, CCDS66432.1	12q14.3	2008-08-05				ENSG00000067798			15998	protein-coding gene	gene with protein product	"pore membrane and/or filament interacting like protein 1", "steerin 3"	611629				12079279, 12062803	Standard	XM_005269215		Approved	KIAA0938, POMFIL1	uc001syo.3	Q8IVL0	OTTHUMG00000170001	ENST00000397909.2:c.3885G>T	12.37:g.78515855G>T		HNSCC(70;0.22)				NAV3_ENST00000266692.7_Intron|NAV3_ENST00000228327.6_Silent_p.T1295T|NAV3_ENST00000536525.2_Silent_p.T1295T	p.T1295T			Q8IVL0	NAV3_HUMAN			16	4058	+			1295			Ser-rich.		Q8NFW7|Q9Y2E7	Silent	SNP	ENST00000397909.2	37	c.3885G>T																																																																																					0.532	NAV3-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000406812.1	NM_001024383		3	69	1	0	0.115264	1	0.118338	3	69					T	78515855	G	T	78515855	2	4	66	1	0	0	0	0	0	0	0	1	10185	1103	39	5		5	NAV3	12	78515855	Silent	SNP	G	TCGA-EJ-5518-01A-01D-1576-08	65644862	78515855	55336040	31	3358											
C12orf64	283310	broad.mit.edu	37	chr12	80750271	80750271	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	attgattgttggccacagtcCtctttcttgctgtccacagt	6	16	8	11	0	2	1	0	1	2	0	4	1	4	1	3	1	1	2	3	1	0	5			TCGA-EJ-5518-01A-01D-1576-08	TCGA-EJ-5518-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4377528-6017-41d2-ae39-1f280a2294ad	3c8b1c7e-e15b-49d4-b5bb-4f4a05e92f20	g.chr12:80750271C>G	ENST00000547103.1	+	47	5825	c.5819C>G	c.(5818-5820)cCt>cGt	p.P1940R	OTOGL_ENST00000458043.2_Missense_Mutation_p.P1952R|OTOGL_ENST00000546620.1_5'UTR			Q3ZCN5	OTOGL_HUMAN	otogelin-like	1940	Cys-rich.				L-arabinose metabolic process (GO:0046373)	extracellular region (GO:0005576)	alpha-L-arabinofuranosidase activity (GO:0046556)	p.P395A(2)|p.P1952R(1)|p.P317R(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						GGCCACAGTCCTCTTTCTTGC	0.328																																						ENST00000458043.2																			4	Substitution - Missense(4)	p.P395A(2)|p.P1952R(1)|p.P317R(1)	prostate(4)	breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						c.(5854-5856)cCt>cGt		otogelin-like							103	97	99					12																	80750271		1849	4094	5943	SO:0001583	missense	283310							g.chr12:80750271C>G	AK096852		12q21.31	2011-02-11	2011-02-11	2011-02-11	ENSG00000165899	ENSG00000165899			26901	protein-coding gene	gene with protein product		614925	"chromosome 12 open reading frame 64"	C12orf64			Standard	NM_173591		Approved	FLJ90579	uc001szd.3	Q3ZCN5	OTTHUMG00000150509	ENST00000547103.1:c.5819C>G	12.37:g.80750271C>G	ENSP00000447211:p.Pro1940Arg					OTOGL_ENST00000547103.1_Missense_Mutation_p.P1940R|OTOGL_ENST00000546620.1_5'UTR	p.P1952R	NM_173591.3	NP_775862.3					47	5861	+								F8W0C3|Q495U8|Q8N8G5|Q8NC28	Missense_Mutation	SNP	ENST00000547103.1	37	c.5855C>G		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.00|14.00	2.403418|2.403418	0.42613|0.42613	.|.	.|.	ENSG00000165899|ENSG00000165899	ENST00000298820|ENST00000547103;ENST00000458043	.|T;T	.|0.28895	.|1.59;1.59	5.17|5.17	3.33|3.33	0.38152|0.38152	.|.	.|.	.|.	.|.	.|.	T|T	0.47358|0.47358	0.1441|0.1441	M|M	0.80746|0.80746	2.51|2.51	0.24976|0.24976	N|N	0.991634|0.991634	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.36866|0.36866	-0.9730|-0.9730	5|7	.|0.56958	.|D	.|0.05	.|.	11.5388|11.5388	0.50655|0.50655	0.0:0.8534:0.0:0.1466|0.0:0.8534:0.0:0.1466	.|.	.|.	.|.	.|.	V|R	395|1940;1952	.|ENSP00000447211:P1940R;ENSP00000400895:P1952R	.|ENSP00000400895:P1952R	L|P	+|+	1|2	0|0	OTOGL|OTOGL	79274402|79274402	0.041000|0.041000	0.20044|0.20044	0.383000|0.383000	0.26132|0.26132	0.846000|0.846000	0.48090|0.48090	2.428000|2.428000	0.44749|0.44749	0.571000|0.571000	0.29365|0.29365	0.557000|0.557000	0.71058|0.71058	CTC|CCT		0.328	OTOGL-001	NOVEL	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000407438.1	NM_173591		22	99	0	0	0	1	0	22	99					G	80750271	C	G	80750271	3	3	66	1	0	0	0	0	1	0	0	0	1707	681	24	5	6041	5	C12orf64	12	80750271	Missense_Mutation	SNP	C	TCGA-EJ-5518-01A-01D-1576-08	2234416	80750271	53101624	32	3359											
ISCU	23479	broad.mit.edu	37	chr12	108958127	108958127	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctaaaaatgttggaactggaCtggtgggggctccagcatgt	10	10	14	7	0	0	0	0	0	0	0	1	2	1	2	1	5	2	3	1	5	4	2			TCGA-EJ-5518-01A-01D-1576-08	TCGA-EJ-5518-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4377528-6017-41d2-ae39-1f280a2294ad	3c8b1c7e-e15b-49d4-b5bb-4f4a05e92f20	g.chr12:108958127C>A	ENST00000311893.9	+	2	209	c.187C>A	c.(187-189)Ctg>Atg	p.L63M	ISCU_ENST00000338291.4_Missense_Mutation_p.L38M|SART3_ENST00000546611.1_5'Flank|ISCU_ENST00000539593.1_Missense_Mutation_p.L63M|ISCU_ENST00000535729.1_Missense_Mutation_p.L63M|ISCU_ENST00000431221.2_Missense_Mutation_p.L63M|SART3_ENST00000228284.3_5'Flank|ISCU_ENST00000392807.4_Missense_Mutation_p.L38M|ISCU_ENST00000547005.1_Missense_Mutation_p.L63M	NM_213595.2	NP_998760.1	Q9H1K1	ISCU_HUMAN	iron-sulfur cluster assembly enzyme	63					iron-sulfur cluster assembly (GO:0016226)|nitrogen fixation (GO:0009399)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	iron ion binding (GO:0005506)|iron-sulfur cluster binding (GO:0051536)|protein complex scaffold (GO:0032947)	p.L38M(1)		kidney(2)|large_intestine(2)|lung(4)|prostate(2)|urinary_tract(1)	11						TGGAACTGGACTGGTGGGGGC	0.373																																						ENST00000535729.1																			1	Substitution - Missense(1)	p.L38M(1)	prostate(1)	kidney(2)|large_intestine(2)|lung(4)|prostate(2)|urinary_tract(1)	11						c.(187-189)Ctg>Atg		iron-sulfur cluster assembly enzyme							83	86	85					12																	108958127		2203	4300	6503	SO:0001583	missense	23479				iron-sulfur cluster assembly|nitrogen fixation	cytosol|mitochondrion|nucleus	iron ion binding|iron-sulfur cluster binding|protein complex scaffold	g.chr12:108958127C>A	U47101	CCDS9118.1, CCDS44966.1, CCDS73518.1	12q24.1	2013-08-05	2013-08-05	2006-10-24	ENSG00000136003	ENSG00000136003			29882	protein-coding gene	gene with protein product		611911	"NifU-like N-terminal domain containing", "IscU iron-sulfur cluster scaffold homolog (E. coli)", "iron-sulfur cluster scaffold homolog (E. coli)"	NIFUN		8875867, 11060020	Standard	XM_005268760		Approved	ISU2, hnifU, IscU	uc010sxc.2	Q9H1K1	OTTHUMG00000168420	ENST00000311893.9:c.187C>A	12.37:g.108958127C>A	ENSP00000310623:p.Leu63Met					ISCU_ENST00000539593.1_Missense_Mutation_p.L63M|ISCU_ENST00000392807.4_Missense_Mutation_p.L38M|ISCU_ENST00000338291.4_Missense_Mutation_p.L38M|ISCU_ENST00000311893.9_Missense_Mutation_p.L63M|ISCU_ENST00000547005.1_Missense_Mutation_p.L63M|ISCU_ENST00000431221.2_Missense_Mutation_p.L63M	p.L63M			Q9H1K1	ISCU_HUMAN			2	209	+			63					Q6P713|Q99617|Q9H1K2	Missense_Mutation	SNP	ENST00000311893.9	37	c.187C>A	CCDS44966.1	.	.	.	.	.	.	.	.	.	.	C	15.28	2.786992	0.49997	.	.	ENSG00000136003	ENST00000535729;ENST00000431221;ENST00000547005;ENST00000311893;ENST00000392807;ENST00000338291;ENST00000539593	T;T;T;T;T;T;T	0.76968	-1.06;-1.06;-1.06;-1.06;-1.06;-1.06;-1.06	6.06	-12.1	0.00011	NIF system FeS cluster assembly, NifU, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.77025	0.4070	L	0.45051	1.395	0.36426	D	0.864615	P;B;D;P;P;P	0.67145	0.935;0.392;0.996;0.92;0.835;0.547	P;P;D;P;P;P	0.75020	0.824;0.711;0.985;0.73;0.612;0.541	D	0.90671	0.4598	10	0.16420	T	0.52	.	19.7098	0.96094	0.0:0.6402:0.0:0.3598	.	63;63;63;63;38;38	B3KQ30;Q9H1K1;B4DNC9;F5H5N2;B1P7G3;Q9H1K1-2	.;ISCU_HUMAN;.;.;.;.	M	63;63;63;63;38;38;63	ENSP00000445598:L63M;ENSP00000411108:L63M;ENSP00000446606:L63M;ENSP00000310623:L63M;ENSP00000376554:L38M;ENSP00000344584:L38M;ENSP00000443272:L63M	ENSP00000310623:L63M	L	+	1	2	ISCU	107482256	0.003000	0.15002	0.048000	0.18961	0.942000	0.58702	-0.133000	0.10451	-2.869000	0.00324	-1.202000	0.01658	CTG		0.373	ISCU-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399693.1	NM_014301		22	78	1	0	8.24728e-16	1	9.62183e-16	22	78					A	108958127	C	A	108958127	3	1	66	1	0	0	0	0	1	0	0	0	7852	564	20	5	118	5	ISCU	12	108958127	Missense_Mutation	SNP	C	TCGA-EJ-5518-01A-01D-1576-08	28207856	108958127	24893768	33	3360											
FAM124A	220108	broad.mit.edu	37	chr13	51826251	51826251	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgagggacataggcgagctcGtgcctctcctgcccaaccct	7	8	11	15	2	1	1	0	1	1	0	3	3	1	2	4	2	4	1	4	2	2	1	rs146463367		TCGA-EJ-5518-01A-01D-1576-08	TCGA-EJ-5518-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4377528-6017-41d2-ae39-1f280a2294ad	3c8b1c7e-e15b-49d4-b5bb-4f4a05e92f20	g.chr13:51826251G>C	ENST00000322475.8	+	3	883	c.748G>C	c.(748-750)Gtg>Ctg	p.V250L	FAM124A_ENST00000280057.6_Missense_Mutation_p.V286L	NM_001242312.1	NP_001229241.1	Q86V42	F124A_HUMAN	family with sequence similarity 124A	250								p.V286L(1)		breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|skin(1)	26		Acute lymphoblastic leukemia(7;0.000334)|Breast(56;0.00156)|Prostate(109;0.00538)|Lung NSC(96;0.0216)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;4.25e-07)		AGGCGAGCTCGTGCCTCTCCT	0.632																																						ENST00000322475.8																			1	Substitution - Missense(1)	p.V286L(1)	prostate(1)	breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|skin(1)	26						c.(748-750)Gtg>Ctg		family with sequence similarity 124A							40	40	40					13																	51826251		2203	4300	6503	SO:0001583	missense	220108							g.chr13:51826251G>C	AK096364	CCDS9427.1, CCDS55900.1	13q14.3	2006-08-11			ENSG00000150510	ENSG00000150510			26413	protein-coding gene	gene with protein product						12975309	Standard	NM_145019		Approved	FLJ30707	uc001vff.2	Q86V42	OTTHUMG00000016942	ENST00000322475.8:c.748G>C	13.37:g.51826251G>C	ENSP00000324625:p.Val250Leu					FAM124A_ENST00000280057.6_Missense_Mutation_p.V286L	p.V250L	NM_001242312.1	NP_001229241.1	Q86V42	F124A_HUMAN		GBM - Glioblastoma multiforme(99;4.25e-07)	3	883	+		Acute lymphoblastic leukemia(7;0.000334)|Breast(56;0.00156)|Prostate(109;0.00538)|Lung NSC(96;0.0216)|Hepatocellular(98;0.152)|Glioma(44;0.236)	250					A2A324|Q8N8P9|Q8NE66|Q96NJ9	Missense_Mutation	SNP	ENST00000322475.8	37	c.748G>C	CCDS55900.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.019525	0.75275	.	.	ENSG00000150510	ENST00000322475;ENST00000280057	T;T	0.57436	0.4;0.4	5.79	5.79	0.91817	.	0.065703	0.64402	D	0.000012	T	0.69806	0.3152	M	0.78049	2.395	0.52501	D	0.99995	P;D;B	0.67145	0.87;0.996;0.03	B;D;B	0.64506	0.294;0.926;0.017	T	0.71500	-0.4574	10	0.52906	T	0.07	-2.4874	12.3436	0.55107	0.0765:0.0:0.9235:0.0	.	250;286;250	Q86V42;Q86V42-2;Q86V42-3	F124A_HUMAN;.;.	L	250;286	ENSP00000324625:V250L;ENSP00000280057:V286L	ENSP00000280057:V286L	V	+	1	0	FAM124A	50724252	1.000000	0.71417	0.965000	0.40720	0.550000	0.35303	6.383000	0.73172	2.735000	0.93741	0.655000	0.94253	GTG		0.632	FAM124A-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045019.3	NM_145019		9	36	0	0	0	1	0	9	36					C	51826251	G	C	51826251	3	2	66	1	0	0	0	0	1	0	0	0	5425	1145	40	5	870	5	FAM124A	13	51826251	Missense_Mutation	SNP	G	TCGA-EJ-5518-01A-01D-1576-08		51826251	63343627	34	3361											
MYH7	4625	broad.mit.edu	37	chr14	23885344	23885344	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caccctcagggcctcgttgcGgctgcgtgtctctgcgtcca	3	10	12	16	4	2	0	1	0	1	0	5	0	3	0	3	2	3	2	3	2	0	1			TCGA-EJ-5518-01A-01D-1576-08	TCGA-EJ-5518-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4377528-6017-41d2-ae39-1f280a2294ad	3c8b1c7e-e15b-49d4-b5bb-4f4a05e92f20	g.chr14:23885344G>A	ENST00000355349.3	-	34	4984	c.4822C>T	c.(4822-4824)Cgc>Tgc	p.R1608C	MIR208B_ENST00000401172.1_RNA|CTD-2201G16.1_ENST00000557368.1_RNA	NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	1608					adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|myosin complex (GO:0016459)|myosin filament (GO:0032982)|nucleus (GO:0005634)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)	p.R1608C(1)		NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		GCCTCGTTGCGGCTGCGTGTC	0.622																																						ENST00000355349.3																			1	Substitution - Missense(1)	p.R1608C(1)	prostate(1)	NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137						c.(4822-4824)Cgc>Tgc		myosin, heavy chain 7, cardiac muscle, beta							175	141	153					14																	23885344		2203	4300	6503	SO:0001583	missense	4625				adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr14:23885344G>A	M58018	CCDS9601.1	14q11.2-q13	2014-09-17	2006-09-29		ENSG00000092054	ENSG00000092054		"Myosins / Myosin superfamily : Class II"	7577	protein-coding gene	gene with protein product		160760	"myopathy, distal 1", "myosin, heavy polypeptide 7, cardiac muscle, beta"	CMH1, MPD1		2494889, 8483915, 15322983	Standard	XM_005267696		Approved	CMD1S	uc001wjx.3	P12883	OTTHUMG00000028755	ENST00000355349.3:c.4822C>T	14.37:g.23885344G>A	ENSP00000347507:p.Arg1608Cys						p.R1608C	NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN		GBM - Glioblastoma multiforme(265;0.00725)	34	4984	-	all_cancers(95;2.54e-05)		1608					A2TDB6|B6D424|Q14836|Q14837|Q14904|Q16579|Q2M1Y6|Q92679|Q9H1D5|Q9UDA2|Q9UMM8	Missense_Mutation	SNP	ENST00000355349.3	37	c.4822C>T	CCDS9601.1	.	.	.	.	.	.	.	.	.	.	G	17.23	3.336384	0.60963	.	.	ENSG00000092054	ENST00000355349;ENST00000544444	D	0.81499	-1.5	4.55	4.55	0.56014	Myosin tail (1);	.	.	.	.	D	0.92401	0.7588	H	0.96048	3.76	0.58432	D	0.999999	D	0.89917	1.0	D	0.74023	0.982	D	0.94351	0.7579	9	0.87932	D	0	.	14.4145	0.67139	0.0:0.0:0.8524:0.1476	.	1608	P12883	MYH7_HUMAN	C	1608;1613	ENSP00000347507:R1608C	ENSP00000347507:R1608C	R	-	1	0	MYH7	22955184	1.000000	0.71417	1.000000	0.80357	0.909000	0.53808	2.176000	0.42500	2.537000	0.85549	0.655000	0.94253	CGC		0.622	MYH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071798.3	NM_000257		58	118	0	0	0	1	0	58	118					A	23885344	G	A	23885344	3	1	66	1	0	0	0	0	1	0	0	0	10039	1116	39	2	1013	2	MYH7	14	23885344	Missense_Mutation	SNP	G	TCGA-EJ-5518-01A-01D-1576-08		23885344	83464196	35	3362											
NUMB	8650	broad.mit.edu	37	chr14	73743464	73743464	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgaggccaacctgccatcaTctacaccattgaaagctgca	12	8	7	14	0	2	2	1	2	1	0	2	2	2	2	4	1	5	2	4	1	3	2			TCGA-EJ-5518-01A-01D-1576-08	TCGA-EJ-5518-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4377528-6017-41d2-ae39-1f280a2294ad	3c8b1c7e-e15b-49d4-b5bb-4f4a05e92f20	g.chr14:73743464T>G	ENST00000355058.3	-	13	2056	c.1778A>C	c.(1777-1779)gAt>gCt	p.D593A	NUMB_ENST00000554521.2_Missense_Mutation_p.D387A|NUMB_ENST00000559312.1_Missense_Mutation_p.D398A|NUMB_ENST00000359560.3_Missense_Mutation_p.D582A|NUMB_ENST00000555394.1_Missense_Mutation_p.D545A|NUMB_ENST00000560335.1_Missense_Mutation_p.D447A|NUMB_ENST00000356296.4_Missense_Mutation_p.D545A|NUMB_ENST00000454166.4_Missense_Mutation_p.D447A|NUMB_ENST00000557597.1_Missense_Mutation_p.D582A|NUMB_ENST00000535282.1_Missense_Mutation_p.D582A|NUMB_ENST00000554546.1_Missense_Mutation_p.D534A|NUMB_ENST00000555238.1_Missense_Mutation_p.D593A|NUMB_ENST00000555738.2_Missense_Mutation_p.D436A|RP4-647C14.3_ENST00000556578.1_RNA|NUMB_ENST00000556772.1_Missense_Mutation_p.D449A|NUMB_ENST00000544991.3_Missense_Mutation_p.D398A			P49757	NUMB_HUMAN	numb homolog (Drosophila)	593					adherens junction organization (GO:0034332)|axon guidance (GO:0007411)|lateral ventricle development (GO:0021670)|lung epithelial cell differentiation (GO:0060487)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of protein localization to plasma membrane (GO:1903077)|neuroblast division in subventricular zone (GO:0021849)|Notch signaling pathway (GO:0007219)|positive regulation of cell migration (GO:0030335)|positive regulation of neurogenesis (GO:0050769)|positive regulation of polarized epithelial cell differentiation (GO:0030862)	apical part of cell (GO:0045177)|basolateral plasma membrane (GO:0016323)|clathrin-coated vesicle (GO:0030136)|early endosome (GO:0005769)|extrinsic component of plasma membrane (GO:0019897)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.D593A(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1)	28				BRCA - Breast invasive adenocarcinoma(234;0.00471)|OV - Ovarian serous cystadenocarcinoma(108;0.161)		CCTGCCATCATCTACACCATT	0.527																																						ENST00000556772.1																			1	Substitution - Missense(1)	p.D593A(1)	prostate(1)	breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1)	28						c.(1345-1347)gAt>gCt		numb homolog (Drosophila)							80	70	74					14																	73743464		2203	4300	6503	SO:0001583	missense	8650				axon guidance|lateral ventricle development|neuroblast division in subventricular zone|positive regulation of neurogenesis	integral to plasma membrane		g.chr14:73743464T>G	L40393	CCDS9814.1, CCDS32115.1, CCDS32116.1, CCDS55927.1	14q24.3	2011-11-25	2001-11-28			ENSG00000133961			8060	protein-coding gene	gene with protein product		603728	"numb (Drosophila) homolog", "chromosome 14 open reading frame 41"	C14orf41			Standard	NM_003744		Approved		uc001xny.1	P49757		ENST00000355058.3:c.1778A>C	14.37:g.73743464T>G	ENSP00000347169:p.Asp593Ala					NUMB_ENST00000555394.1_Missense_Mutation_p.D545A|NUMB_ENST00000555238.1_Missense_Mutation_p.D593A|NUMB_ENST00000560335.1_Missense_Mutation_p.D447A|NUMB_ENST00000557597.1_Missense_Mutation_p.D582A|NUMB_ENST00000356296.4_Missense_Mutation_p.D545A|NUMB_ENST00000535282.1_Missense_Mutation_p.D582A|NUMB_ENST00000559312.1_Missense_Mutation_p.D398A|NUMB_ENST00000544991.3_Missense_Mutation_p.D398A|NUMB_ENST00000359560.3_Missense_Mutation_p.D582A|NUMB_ENST00000555738.2_Missense_Mutation_p.D436A|NUMB_ENST00000554521.2_Missense_Mutation_p.D387A|NUMB_ENST00000554546.1_Missense_Mutation_p.D534A|NUMB_ENST00000355058.3_Missense_Mutation_p.D593A|NUMB_ENST00000454166.4_Missense_Mutation_p.D447A	p.D449A			P49757	NUMB_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00471)|OV - Ovarian serous cystadenocarcinoma(108;0.161)	7	3633	-			593					B1P2N5|B1P2N6|B1P2N7|B1P2N8|B1P2N9|B4E2B1|Q6NUQ7|Q86SY1|Q8WW73|Q9UBG1|Q9UEQ4|Q9UKE8|Q9UKE9|Q9UKF0|Q9UQJ4	Missense_Mutation	SNP	ENST00000355058.3	37	c.1346A>C	CCDS32116.1	.	.	.	.	.	.	.	.	.	.	T	13.29	2.192552	0.38707	.	.	ENSG00000133961	ENST00000554546;ENST00000356296;ENST00000557597;ENST00000555238;ENST00000556772;ENST00000355058;ENST00000359560;ENST00000555394;ENST00000544991;ENST00000454166;ENST00000555738;ENST00000554521;ENST00000535282	T;T;T;T;T;T;T;T;T;T;T;T;T	0.56611	0.45;0.5;0.93;0.93;1.5;0.93;0.93;0.5;0.48;0.48;0.48;0.48;0.93	5.14	5.14	0.70334	.	0.235103	0.42053	D	0.000771	T	0.48021	0.1477	N	0.08118	0	0.38935	D	0.958023	D;B;B;B;B;P;P;B;B	0.69078	0.997;0.099;0.099;0.099;0.099;0.95;0.95;0.002;0.001	P;B;B;B;B;P;P;B;B	0.60682	0.878;0.04;0.04;0.04;0.04;0.544;0.544;0.013;0.002	T	0.50767	-0.8789	10	0.21014	T	0.42	-13.9349	15.1217	0.72450	0.0:0.0:0.0:1.0	.	291;436;447;387;398;534;545;582;593	B1P2N9;B1P2N6;B1P2N5;B1P2N8;B1P2N7;P49757-4;P49757-2;P49757-3;P49757	.;.;.;.;.;.;.;.;NUMB_HUMAN	A	534;545;582;593;449;593;582;545;398;447;436;387;582	ENSP00000452416:D534A;ENSP00000348644:D545A;ENSP00000451117:D582A;ENSP00000451300:D593A;ENSP00000451513:D449A;ENSP00000347169:D593A;ENSP00000352563:D582A;ENSP00000451625:D545A;ENSP00000446001:D398A;ENSP00000394025:D447A;ENSP00000452069:D436A;ENSP00000450817:D387A;ENSP00000441258:D582A	ENSP00000347169:D593A	D	-	2	0	NUMB	72813217	0.997000	0.39634	0.859000	0.33776	0.957000	0.61999	3.518000	0.53451	2.165000	0.68154	0.459000	0.35465	GAT		0.527	NUMB-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000414416.1			17	36	0	0	0	1	0	17	36					G	73743464	T	G	73743464	3	3	66	1	0	0	0	0	1	0	0	0	10751	1435	50	5	181	5	NUMB	14	73743464	Missense_Mutation	SNP	T	TCGA-EJ-5518-01A-01D-1576-08	49858120	73743464	33606076	36	3363											
EML5	161436	broad.mit.edu	37	chr14	89168815	89168815	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgttgccacgtagtctttcAaaggatgaatagttaggcag	11	12	11	7	1	2	1	1	1	1	0	2	2	2	2	1	2	1	4	1	2	5	5			TCGA-EJ-5518-01A-01D-1576-08	TCGA-EJ-5518-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4377528-6017-41d2-ae39-1f280a2294ad	3c8b1c7e-e15b-49d4-b5bb-4f4a05e92f20	g.chr14:89168815A>G	ENST00000380664.5	-	14	2212	c.2213T>C	c.(2212-2214)tTg>tCg	p.L738S	EML5_ENST00000352093.5_Missense_Mutation_p.L738S|EML5_ENST00000554922.1_Missense_Mutation_p.L738S			Q05BV3	EMAL5_HUMAN	echinoderm microtubule associated protein like 5	738						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)	catalytic activity (GO:0003824)	p.L738S(2)		breast(1)|endometrium(3)|kidney(4)|large_intestine(17)|lung(14)|ovary(3)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						GTAGTCTTTCAAAGGATGAAT	0.388																																						ENST00000554922.1																			2	Substitution - Missense(2)	p.L738S(2)	prostate(2)	breast(1)|endometrium(3)|kidney(4)|large_intestine(17)|lung(14)|ovary(3)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						c.(2212-2214)tTg>tCg		echinoderm microtubule associated protein like 5							90	83	85					14																	89168815		1887	4106	5993	SO:0001583	missense	161436					cytoplasm|microtubule		g.chr14:89168815A>G	AY357725	CCDS45148.1	14q31.3	2013-01-10				ENSG00000165521		"WD repeat domain containing"	18197	protein-coding gene	gene with protein product							Standard	NM_183387		Approved	HuEMAP-2, EMAP-2	uc021ryf.1	Q05BV3		ENST00000380664.5:c.2213T>C	14.37:g.89168815A>G	ENSP00000370039:p.Leu738Ser					EML5_ENST00000352093.5_Missense_Mutation_p.L738S|EML5_ENST00000380664.5_Missense_Mutation_p.L738S	p.L738S	NM_183387.2	NP_899243.1	Q05BV3	EMAL5_HUMAN			14	2461	-			738					B9EK59|Q5H9N6|Q6UYC9|Q6ZRP3|Q6ZT03	Missense_Mutation	SNP	ENST00000380664.5	37	c.2213T>C	CCDS45148.1	.	.	.	.	.	.	.	.	.	.	A	13.03	2.114102	0.37339	.	.	ENSG00000165521	ENST00000554922;ENST00000352093;ENST00000380664	T;T;T	0.38077	1.16;2.42;1.16	5.27	5.27	0.74061	WD40/YVTN repeat-like-containing domain (1);Quinonprotein alcohol dehydrogenase-like (1);WD40-repeat-containing domain (1);	0.239529	0.25872	N	0.027751	T	0.30541	0.0768	N	0.03891	-0.335	0.37096	D	0.899673	P	0.39131	0.661	P	0.54100	0.742	T	0.38499	-0.9658	10	0.15066	T	0.55	-3.2656	15.0104	0.71545	1.0:0.0:0.0:0.0	.	738	Q05BV3	EMAL5_HUMAN	S	738	ENSP00000451998:L738S;ENSP00000298315:L738S;ENSP00000370039:L738S	ENSP00000298315:L738S	L	-	2	0	EML5	88238568	1.000000	0.71417	0.996000	0.52242	0.997000	0.91878	6.964000	0.76061	2.200000	0.70718	0.455000	0.32223	TTG		0.388	EML5-010	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000410491.1			8	58	0	0	0	1	0	8	58					G	89168815	A	G	89168815	3	3	66	1	0	0	0	0	1	0	0	0	5100	131	5	4	3840	4	EML5	14	89168815	Missense_Mutation	SNP	A	TCGA-EJ-5518-01A-01D-1576-08	15425351	89168815	18180725	37	3364											
DMXL2	23312	broad.mit.edu	37	chr15	51750826	51750826	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	caatttcattacaatttgccTataaagcaaaggcagaatcg	16	11	6	8	1	1	1	1	0	0	1	2	1	1	1	1	1	3	2	1	1	8	5			TCGA-EJ-5518-01A-01D-1576-08	TCGA-EJ-5518-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4377528-6017-41d2-ae39-1f280a2294ad	3c8b1c7e-e15b-49d4-b5bb-4f4a05e92f20	g.chr15:51750826T>C	ENST00000251076.5	-	35	8298		c.e35-2		DMXL2_ENST00000449909.3_Splice_Site|RP11-707P17.2_ENST00000559977.1_RNA|RP11-707P17.1_ENST00000561007.1_RNA|DMXL2_ENST00000543779.2_Splice_Site|RP11-707P17.2_ENST00000559173.1_RNA|RP11-707P17.2_ENST00000560727.1_RNA	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2							cell junction (GO:0030054)|extracellular space (GO:0005615)|membrane (GO:0016020)|synaptic vesicle (GO:0008021)	Rab GTPase binding (GO:0017137)	p.?(1)		breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		ACAATTTGCCTATAAAGCAAA	0.348																																						ENST00000251076.5																			1	Unknown(1)	p.?(1)	prostate(1)	breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101						c.e35-2		Dmx-like 2							110	103	105					15																	51750826		2196	4293	6489	SO:0001630	splice_region_variant	23312					cell junction|synaptic vesicle membrane	Rab GTPase binding	g.chr15:51750826T>C	AB020663	CCDS10141.1, CCDS53945.1, CCDS53946.1	15q21.2	2013-01-10			ENSG00000104093	ENSG00000104093		"WD repeat domain containing"	2938	protein-coding gene	gene with protein product	"rabconnectin 3"	612186					Standard	NM_001174116		Approved	RC3, KIAA0856	uc010ufy.2	Q8TDJ6	OTTHUMG00000131749	ENST00000251076.5:c.8011-2A>G	15.37:g.51750826T>C						DMXL2_ENST00000543779.2_Splice_Site|RP11-707P17.1_ENST00000561007.1_RNA|RP11-707P17.2_ENST00000559173.1_RNA|RP11-707P17.2_ENST00000560727.1_RNA|DMXL2_ENST00000449909.3_Splice_Site|RP11-707P17.2_ENST00000559977.1_RNA		NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN		all cancers(107;0.00494)	35	8298	-								B2RTR3|B7ZMH3|F5GWF1|O94938	Splice_Site	SNP	ENST00000251076.5	37		CCDS10141.1	.	.	.	.	.	.	.	.	.	.	T	20.8	4.045641	0.75846	.	.	ENSG00000104093	ENST00000251076;ENST00000543779;ENST00000449909;ENST00000436119	.	.	.	5.86	5.86	0.93980	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.5602	0.84551	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	DMXL2	49538118	1.000000	0.71417	0.997000	0.53966	0.957000	0.61999	5.881000	0.69706	2.367000	0.80283	0.528000	0.53228	.		0.348	DMXL2-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254671.2	NM_015263	Intron	32	79	0	0	0	1	0	32	79					C	51750826	T	C	51750826	5	2	66	1	0	0	0	0	0	0	1	0	4595	1536	53	4	1137	4	DMXL2	15	51750826	Splice_Site	SNP	T	TCGA-EJ-5518-01A-01D-1576-08		51750826	50780566	38	3365											
UACA	55075	broad.mit.edu	37	chr15	70960502	70960502	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttcagatgtgagagcgtgtaTtttctcctggtcttcaccac	7	15	9	10	1	4	2	2	1	2	2	5	3	4	2	2	1	1	1	2	1	1	5			TCGA-EJ-5518-01A-01D-1576-08	TCGA-EJ-5518-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4377528-6017-41d2-ae39-1f280a2294ad	3c8b1c7e-e15b-49d4-b5bb-4f4a05e92f20	g.chr15:70960502T>C	ENST00000322954.6	-	16	2706	c.2521A>G	c.(2521-2523)Ata>Gta	p.I841V	UACA_ENST00000560441.1_Missense_Mutation_p.I826V|UACA_ENST00000379983.2_Missense_Mutation_p.I828V|UACA_ENST00000539319.1_Missense_Mutation_p.I732V	NM_018003.2	NP_060473.2	Q9BZF9	UACA_HUMAN	uveal autoantigen with coiled-coil domains and ankyrin repeats	841					intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|negative regulation of inflammatory response (GO:0050728)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of protein import into nucleus (GO:0042307)|response to UV (GO:0009411)	apoptosome (GO:0043293)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)		p.I828V(1)		breast(2)|endometrium(7)|kidney(4)|large_intestine(13)|lung(17)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	50						AGAGCGTGTATTTTCTCCTGG	0.348																																						ENST00000322954.6																			1	Substitution - Missense(1)	p.I828V(1)	prostate(1)	breast(2)|endometrium(7)|kidney(4)|large_intestine(13)|lung(17)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	50						c.(2521-2523)Ata>Gta		uveal autoantigen with coiled-coil domains and ankyrin repeats							134	130	131					15																	70960502		2199	4298	6497	SO:0001583	missense	55075					cytoskeleton|extracellular region		g.chr15:70960502T>C	AF322916	CCDS10235.1, CCDS32280.1	15q22-q24	2013-01-10			ENSG00000137831	ENSG00000137831		"Ankyrin repeat domain containing"	15947	protein-coding gene	gene with protein product		612516				11162650, 10997877	Standard	NM_001008224		Approved	FLJ10128, KIAA1561	uc002asr.3	Q9BZF9	OTTHUMG00000133363	ENST00000322954.6:c.2521A>G	15.37:g.70960502T>C	ENSP00000314556:p.Ile841Val					UACA_ENST00000539319.1_Missense_Mutation_p.I732V|UACA_ENST00000560441.1_Missense_Mutation_p.I826V|UACA_ENST00000379983.2_Missense_Mutation_p.I828V	p.I841V	NM_018003.2	NP_060473.2	Q9BZF9	UACA_HUMAN			16	2706	-			841					G3XAG2|Q14DD3|Q8N3B8|Q96NH6|Q9HCL1|Q9NWC6	Missense_Mutation	SNP	ENST00000322954.6	37	c.2521A>G	CCDS10235.1	.	.	.	.	.	.	.	.	.	.	T	0.007	-1.989495	0.00439	.	.	ENSG00000137831	ENST00000322954;ENST00000379983;ENST00000539319	T;T;T	0.77489	-1.1;-1.1;-1.1	5.65	-3.36	0.04913	.	0.447721	0.23204	N	0.050760	T	0.53594	0.1806	L	0.27053	0.805	0.09310	N	1	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.06405	0.0;0.001;0.001;0.002	T	0.48937	-0.8990	10	0.02654	T	1	-17.1828	8.7907	0.34848	0.1074:0.5208:0.0:0.3718	.	732;841;841;828	F5H2B9;B7ZKM6;Q9BZF9;G3XAG2	.;.;UACA_HUMAN;.	V	841;828;732	ENSP00000314556:I841V;ENSP00000369319:I828V;ENSP00000438667:I732V	ENSP00000314556:I841V	I	-	1	0	UACA	68747556	0.296000	0.24398	0.012000	0.15200	0.187000	0.23431	0.774000	0.26675	-0.289000	0.09038	-0.274000	0.10170	ATA		0.348	UACA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257199.2			38	162	0	0	0	1	0	38	162					C	70960502	T	C	70960502	3	2	66	1	0	0	0	0	1	0	0	0	16821	1493	52	4	1745	4	UACA	15	70960502	Missense_Mutation	SNP	T	TCGA-EJ-5518-01A-01D-1576-08	19209676	70960502	31570890	39	3366											
LRRC49	54839	broad.mit.edu	37	chr15	71305231	71305231	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gttaccccagtatcgtctgaTttccattctgggtgatgcca	7	14	9	11	1	2	2	0	2	2	0	4	2	3	2	4	1	2	2	4	1	2	4			TCGA-EJ-5518-01A-01D-1576-08	TCGA-EJ-5518-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4377528-6017-41d2-ae39-1f280a2294ad	3c8b1c7e-e15b-49d4-b5bb-4f4a05e92f20	g.chr15:71305231T>C	ENST00000260382.5	+	14	1942	c.1682T>C	c.(1681-1683)aTt>aCt	p.I561T	LRRC49_ENST00000544974.2_Missense_Mutation_p.I551T|LRRC49_ENST00000560158.2_Missense_Mutation_p.I249T|LRRC49_ENST00000560691.1_Missense_Mutation_p.I267T|LRRC49_ENST00000560369.1_Missense_Mutation_p.I566T|LRRC49_ENST00000443425.2_Missense_Mutation_p.I517T|LRRC49_ENST00000436542.2_3'UTR	NM_001199017.1|NM_017691.3	NP_001185946.1|NP_060161.2	Q8IUZ0	LRC49_HUMAN	leucine rich repeat containing 49	561						cytoplasm (GO:0005737)|microtubule (GO:0005874)		p.I561T(1)		breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(3)|skin(3)	34						TATCGTCTGATTTCCATTCTG	0.373																																						ENST00000260382.5																			1	Substitution - Missense(1)	p.I561T(1)	prostate(1)	breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(3)|skin(3)	34						c.(1681-1683)aTt>aCt		leucine rich repeat containing 49							173	158	163					15																	71305231		2199	4297	6496	SO:0001583	missense	54839					cytoplasm|microtubule		g.chr15:71305231T>C		CCDS32282.1, CCDS55971.1, CCDS58376.1, CCDS61694.1	15q23	2005-08-09				ENSG00000137821			25965	protein-coding gene	gene with protein product						12477932	Standard	NM_001199017		Approved	FLJ20156	uc010ukf.2	Q8IUZ0		ENST00000260382.5:c.1682T>C	15.37:g.71305231T>C	ENSP00000260382:p.Ile561Thr					LRRC49_ENST00000560691.1_Missense_Mutation_p.I267T|LRRC49_ENST00000544974.2_Missense_Mutation_p.I551T|LRRC49_ENST00000443425.2_Missense_Mutation_p.I517T|LRRC49_ENST00000560369.1_Missense_Mutation_p.I566T|LRRC49_ENST00000560158.2_Missense_Mutation_p.I249T|LRRC49_ENST00000436542.2_3'UTR	p.I561T	NM_001199017.1|NM_017691.3	NP_001185946.1|NP_060161.2	Q8IUZ0	LRC49_HUMAN			14	1942	+			561					B3KVX1|B7Z366|F5H1J4|G5E9T5|H0YLN4|Q9NXM6	Missense_Mutation	SNP	ENST00000260382.5	37	c.1682T>C	CCDS32282.1	.	.	.	.	.	.	.	.	.	.	T	13.42	2.232247	0.39498	.	.	ENSG00000137821	ENST00000544974;ENST00000260382;ENST00000443425;ENST00000436542	T;T;T	0.33865	1.39;1.4;1.39	5.47	5.47	0.80525	.	0.126375	0.53938	D	0.000046	T	0.24431	0.0592	N	0.22421	0.69	0.32052	N	0.596813	B;B;P;B;B	0.34800	0.144;0.332;0.469;0.224;0.152	B;B;B;B;B	0.35510	0.065;0.204;0.204;0.101;0.107	T	0.32241	-0.9914	10	0.39692	T	0.17	-20.0826	8.9002	0.35490	0.1663:0.0:0.0:0.8337	.	566;533;517;561;551	B7Z366;G5E9Q1;G5E9T5;Q8IUZ0;F5H1J4	.;.;.;LRC49_HUMAN;.	T	551;561;517;533	ENSP00000439600:I551T;ENSP00000260382:I561T;ENSP00000414065:I517T	ENSP00000260382:I561T	I	+	2	0	LRRC49	69092285	1.000000	0.71417	0.999000	0.59377	0.969000	0.65631	5.082000	0.64450	2.068000	0.61886	0.454000	0.30748	ATT		0.373	LRRC49-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417209.3	NM_017691		44	146	0	0	0	1	0	44	146					C	71305231	T	C	71305231	3	2	66	1	0	0	0	0	1	0	0	0	9006	1493	52	4	1736	4	LRRC49	15	71305231	Missense_Mutation	SNP	T	TCGA-EJ-5518-01A-01D-1576-08	344729	71305231	31226161	40	3367											
SLC28A1	9154	broad.mit.edu	37	chr15	85467288	85467288	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aagtccacgttgtcatgaccGgaggttacgccaccattgct	9	10	10	12	3	1	1	1	1	0	0	2	2	2	2	4	2	2	3	4	2	2	3	rs141708518		TCGA-EJ-5518-01A-01D-1576-08	TCGA-EJ-5518-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4377528-6017-41d2-ae39-1f280a2294ad	3c8b1c7e-e15b-49d4-b5bb-4f4a05e92f20	g.chr15:85467288G>A	ENST00000286749.3	+	11	1120	c.1030G>A	c.(1030-1032)Gga>Aga	p.G344R	SLC28A1_ENST00000537216.1_Missense_Mutation_p.G344R|SLC28A1_ENST00000537703.1_Missense_Mutation_p.G266R|SLC28A1_ENST00000537624.1_Missense_Mutation_p.G344R|SLC28A1_ENST00000394573.1_Missense_Mutation_p.G344R|SLC28A1_ENST00000538177.1_Missense_Mutation_p.G344R			O00337	S28A1_HUMAN	solute carrier family 28 (concentrative nucleoside transporter), member 1	344					nucleobase-containing compound metabolic process (GO:0006139)|nucleoside transmembrane transport (GO:1901642)|nucleoside transport (GO:0015858)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	nucleoside binding (GO:0001882)|nucleoside transmembrane transporter activity (GO:0005337)|nucleoside:sodium symporter activity (GO:0005415)	p.G344R(1)		breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	41			BRCA - Breast invasive adenocarcinoma(143;0.0587)		Gemcitabine(DB00441)|Stavudine(DB00649)|Zidovudine(DB00495)	TGTCATGACCGGAGGTTACGC	0.552																																						ENST00000394573.1																			1	Substitution - Missense(1)	p.G344R(1)	prostate(1)	breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	41						c.(1030-1032)Gga>Aga		solute carrier family 28 (concentrative nucleoside transporter), member 1		G	ARG/GLY	0,4406		0,0,2203	146	121	130		1030	3.1	1	15	dbSNP_134	130	1,8597	1.2+/-3.3	0,1,4298	no	missense	SLC28A1	NM_004213.3	125	0,1,6501	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	344/650	85467288	1,13003	2203	4299	6502	SO:0001583	missense	9154				nucleobase, nucleoside and nucleotide metabolic process	integral to plasma membrane|membrane fraction	nucleoside binding	g.chr15:85467288G>A	U62967	CCDS10334.1, CCDS10335.1, CCDS73777.1	15q25.3	2013-07-17	2013-07-17		ENSG00000156222	ENSG00000156222		"Solute carriers"	11001	protein-coding gene	gene with protein product		606207	"solute carrier family 28 (sodium-coupled nucleoside transporter), member 1"			9124315	Standard	NM_004213		Approved	CNT1	uc002blg.3	O00337	OTTHUMG00000148668	ENST00000286749.3:c.1030G>A	15.37:g.85467288G>A	ENSP00000286749:p.Gly344Arg					SLC28A1_ENST00000537216.1_Missense_Mutation_p.G344R|SLC28A1_ENST00000537624.1_Missense_Mutation_p.G344R|SLC28A1_ENST00000286749.3_Missense_Mutation_p.G344R|SLC28A1_ENST00000538177.1_Missense_Mutation_p.G344R|SLC28A1_ENST00000537703.1_Missense_Mutation_p.G266R	p.G344R	NM_004213.3	NP_004204.3	O00337	S28A1_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0587)		12	1232	+			344					A0AV42|A8K7I2|O00335|O00336|Q5U5S6|Q5U648|Q9UEZ9	Missense_Mutation	SNP	ENST00000286749.3	37	c.1030G>A	CCDS10334.1	.	.	.	.	.	.	.	.	.	.	G	15.11	2.734647	0.48939	0.0	1.16E-4	ENSG00000156222	ENST00000537216;ENST00000538177;ENST00000537624;ENST00000286749;ENST00000394573;ENST00000537703	T;T;T;T;T;T	0.29655	1.56;1.56;1.56;1.56;1.56;1.56	4.01	3.09	0.35607	Nucleoside recognition (1);	0.000000	0.85682	D	0.000000	T	0.63710	0.2534	H	0.95504	3.68	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.994;1.0;0.998;1.0	D;P;D;D;D	0.91635	0.996;0.789;0.999;0.975;0.996	T	0.71337	-0.4623	10	0.87932	D	0	4.2058	9.9488	0.41626	0.1018:0.0:0.8982:0.0	.	344;344;344;266;344	B7Z533;F5H560;B7Z3L6;B7Z3M4;O00337	.;.;.;.;S28A1_HUMAN	R	344;344;344;344;344;266	ENSP00000440546:G344R;ENSP00000443752:G344R;ENSP00000444700:G344R;ENSP00000286749:G344R;ENSP00000378074:G344R;ENSP00000443764:G266R	ENSP00000286749:G344R	G	+	1	0	SLC28A1	83268292	1.000000	0.71417	0.988000	0.46212	0.225000	0.24961	5.839000	0.69395	1.027000	0.39758	0.655000	0.94253	GGA		0.552	SLC28A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000308998.2			3	103	0	0	0	1	0	3	103					A	85467288	G	A	85467288	3	1	66	1	0	0	0	0	1	0	0	0	14531	1117	39	2	1139	2	SLC28A1	15	85467288	Missense_Mutation	SNP	G	TCGA-EJ-5518-01A-01D-1576-08	14162057	85467288	17064104	41	3368											
PRKCB	5579	broad.mit.edu	37	chr16	23999908	23999908	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgacaagggtccagcctcCgatgtaagtaatgggcatcg	10	8	13	10	2	0	1	0	1	0	0	3	2	2	1	3	2	1	4	3	2	3	2	rs371087215		TCGA-EJ-5518-01A-01D-1576-08	TCGA-EJ-5518-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4377528-6017-41d2-ae39-1f280a2294ad	3c8b1c7e-e15b-49d4-b5bb-4f4a05e92f20	g.chr16:23999908C>T	ENST00000321728.7	+	3	460	c.285C>T	c.(283-285)tcC>tcT	p.S95S	PRKCB_ENST00000303531.7_Silent_p.S95S	NM_212535.2	NP_997700.1	P05771	KPCB_HUMAN	protein kinase C, beta	95					apoptotic process (GO:0006915)|B cell activation (GO:0042113)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|cellular calcium ion homeostasis (GO:0006874)|cellular response to carbohydrate stimulus (GO:0071322)|histone H3-T6 phosphorylation (GO:0035408)|intracellular signal transduction (GO:0035556)|lipoprotein transport (GO:0042953)|negative regulation of glucose transport (GO:0010829)|negative regulation of insulin receptor signaling pathway (GO:0046627)|platelet activation (GO:0030168)|positive regulation of angiogenesis (GO:0045766)|positive regulation of B cell receptor signaling pathway (GO:0050861)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein phosphorylation (GO:0006468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|calcium channel regulator activity (GO:0005246)|chromatin binding (GO:0003682)|histone binding (GO:0042393)|histone kinase activity (H3-T6 specific) (GO:0035403)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein kinase C activity (GO:0004697)|protein kinase C binding (GO:0005080)|protein serine/threonine kinase activity (GO:0004674)|zinc ion binding (GO:0008270)	p.S95S(3)		central_nervous_system(3)|large_intestine(1)|lung(2)|ovary(3)	9					Tamoxifen(DB00675)|Vitamin E(DB00163)	GTCCAGCCTCCGATGTAAGTA	0.483																																						ENST00000303531.7																			3	Substitution - coding silent(3)	p.S95S(3)	prostate(3)	central_nervous_system(3)|large_intestine(1)|lung(2)|ovary(3)	9						c.(283-285)tcC>tcT		protein kinase C, beta	Vitamin E(DB00163)						107	96	100					16																	23999908		2197	4300	6497	SO:0001819	synonymous_variant	5579				apoptosis|B cell activation|B cell receptor signaling pathway|intracellular signal transduction|lipoprotein transport|platelet activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|synaptic transmission|transcription, DNA-dependent	cytosol|nucleus|plasma membrane	androgen receptor binding|ATP binding|chromatin binding|histone binding|histone kinase activity (H3-T6 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|zinc ion binding	g.chr16:23999908C>T	M13975	CCDS10618.1, CCDS10619.1	16p12	2009-07-10	2008-08-18	2008-08-18	ENSG00000166501	ENSG00000166501	2.7.11.1		9395	protein-coding gene	gene with protein product		176970	"protein kinase C, beta 1"	PRKCB2, PKCB, PRKCB1		3658678	Standard	NM_002738		Approved		uc002dme.3	P05771	OTTHUMG00000131615	ENST00000321728.7:c.285C>T	16.37:g.23999908C>T						PRKCB_ENST00000321728.7_Silent_p.S95S	p.S95S	NM_002738.6	NP_002729.2	P05771	KPCB_HUMAN			3	437	+			95					C5IFJ8|D3DWF5|O43744|P05127|Q15138|Q93060|Q9UE49|Q9UE50|Q9UEH8|Q9UJ30|Q9UJ33	Silent	SNP	ENST00000321728.7	37	c.285C>T	CCDS10618.1																																																																																				0.483	PRKCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254504.2	NM_212535		4	89	0	0	0	1	0	4	89					T	23999908	C	T	23999908	2	4	66	1	0	0	0	0	0	0	0	1	12508	639	23	2		2	PRKCB	16	23999908	Silent	SNP	C	TCGA-EJ-5518-01A-01D-1576-08		23999908	66354845	42	3369											
ZNF629	23361	broad.mit.edu	37	chr16	30794780	30794780	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcccgcactcggggcacttgTagggtttctcgcctgtgtgg	3	12	14	12	3	1	0	0	0	1	0	4	0	2	0	2	4	0	4	2	4	1	3			TCGA-EJ-5518-01A-01D-1576-08	TCGA-EJ-5518-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4377528-6017-41d2-ae39-1f280a2294ad	3c8b1c7e-e15b-49d4-b5bb-4f4a05e92f20	g.chr16:30794780T>C	ENST00000262525.4	-	3	1076	c.869A>G	c.(868-870)tAc>tGc	p.Y290C		NM_001080417.1	NP_001073886.1	Q9UEG4	ZN629_HUMAN	zinc finger protein 629	290					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.Y290C(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(3)|urinary_tract(1)	22			Colorectal(24;0.198)			GGGGCACTTGTAGGGTTTCTC	0.647																																						ENST00000262525.4																			1	Substitution - Missense(1)	p.Y290C(1)	prostate(1)	breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(3)|urinary_tract(1)	22						c.(868-870)tAc>tGc		zinc finger protein 629							72	80	77					16																	30794780		2185	4295	6480	SO:0001583	missense	23361				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:30794780T>C	AB002324	CCDS45463.1	16p11.2	2013-01-08				ENSG00000102870		"Zinc fingers, C2H2-type"	29008	protein-coding gene	gene with protein product			"zinc finger protein 65"	ZNF65		9205841	Standard	NM_001080417		Approved	KIAA0326	uc002dzs.1	Q9UEG4		ENST00000262525.4:c.869A>G	16.37:g.30794780T>C	ENSP00000262525:p.Tyr290Cys						p.Y290C	NM_001080417.1	NP_001073886.1	Q9UEG4	ZN629_HUMAN	Colorectal(24;0.198)		3	1076	-			290					Q15938	Missense_Mutation	SNP	ENST00000262525.4	37	c.869A>G	CCDS45463.1	.	.	.	.	.	.	.	.	.	.	T	16.25	3.071094	0.55646	.	.	ENSG00000102870	ENST00000262525	T	0.25414	1.8	5.59	5.59	0.84812	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.41294	D	0.000918	T	0.52175	0.1718	M	0.83223	2.63	0.41963	D	0.990717	D	0.89917	1.0	D	0.91635	0.999	T	0.58679	-0.7594	10	0.72032	D	0.01	-51.7336	10.4846	0.44713	0.1455:0.0:0.0:0.8545	.	290	Q9UEG4	ZN629_HUMAN	C	290	ENSP00000262525:Y290C	ENSP00000262525:Y290C	Y	-	2	0	ZNF629	30702281	0.819000	0.29175	1.000000	0.80357	0.993000	0.82548	0.236000	0.17967	2.125000	0.65367	0.459000	0.35465	TAC		0.647	ZNF629-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434291.1	NM_015309		3	70	0	0	0	1	0	3	70					C	30794780	T	C	30794780	3	2	66	1	0	0	0	0	1	0	0	0	18050	1638	57	4	1744	4	ZNF629	16	30794780	Missense_Mutation	SNP	T	TCGA-EJ-5518-01A-01D-1576-08	6794872	30794780	59559973	43	3370											
CDH13	1012	broad.mit.edu	37	chr16	83065742	83065742	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcagtgggcaaaactctgttCgtccatgcacggacccccca	9	7	10	15	2	1	0	0	0	1	0	3	1	2	1	4	2	2	4	4	2	2	1			TCGA-EJ-5518-01A-01D-1576-08	TCGA-EJ-5518-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4377528-6017-41d2-ae39-1f280a2294ad	3c8b1c7e-e15b-49d4-b5bb-4f4a05e92f20	g.chr16:83065742C>T	ENST00000566620.1	+	3	575	c.285C>T	c.(283-285)ttC>ttT	p.F95F	CDH13_ENST00000428848.3_Silent_p.F95F|CDH13_ENST00000268613.10_Silent_p.F142F|CDH13_ENST00000431540.3_Silent_p.F95F|CDH13_ENST00000565636.1_Silent_p.F95F|CDH13_ENST00000446376.2_Silent_p.F95F|CDH13_ENST00000569454.1_3'UTR	NM_001220488.1|NM_001220489.1|NM_001220490.1|NM_001257.4	NP_001207417.1|NP_001207418.1|NP_001207419.1|NP_001248.1	P55290	CAD13_HUMAN	cadherin 13	95					adherens junction organization (GO:0034332)|calcium-dependent cell-cell adhesion (GO:0016339)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|endothelial cell migration (GO:0043542)|homophilic cell adhesion (GO:0007156)|keratinocyte proliferation (GO:0043616)|lamellipodium assembly (GO:0030032)|localization within membrane (GO:0051668)|low-density lipoprotein particle mediated signaling (GO:0055096)|mitotic cell cycle (GO:0000278)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell proliferation (GO:0008285)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of cell migration (GO:0030335)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|Rac protein signal transduction (GO:0016601)|regulation of cell growth (GO:0001558)|regulation of endocytosis (GO:0030100)|regulation of epidermal growth factor receptor signaling pathway (GO:0042058)|Rho protein signal transduction (GO:0007266)|sprouting angiogenesis (GO:0002040)	anchored component of membrane (GO:0031225)|caveola (GO:0005901)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	adiponectin binding (GO:0055100)|cadherin binding (GO:0045296)|calcium ion binding (GO:0005509)|lipoprotein particle binding (GO:0071813)|low-density lipoprotein particle binding (GO:0030169)	p.F95F(2)		large_intestine(1)	1		all_cancers(2;1.34e-11)|all_epithelial(2;4.3e-09)		COAD - Colon adenocarcinoma(5;0.0268)		AAACTCTGTTCGTCCATGCAC	0.522																																						ENST00000566620.1																			2	Substitution - coding silent(2)	p.F95F(2)	prostate(2)	large_intestine(1)	1						c.(283-285)ttC>ttT		cadherin 13							72	72	72					16																	83065742		1971	4146	6117	SO:0001819	synonymous_variant	1012				adherens junction organization|calcium-dependent cell-cell adhesion|cell junction assembly|endothelial cell migration|homophilic cell adhesion|keratinocyte proliferation|lamellipodium assembly|localization within membrane|low-density lipoprotein particle mediated signaling|negative regulation of cell adhesion|negative regulation of cell proliferation|positive regulation of calcium-mediated signaling|positive regulation of cell migration|positive regulation of cell-matrix adhesion|positive regulation of endothelial cell proliferation|positive regulation of positive chemotaxis|positive regulation of smooth muscle cell proliferation|positive regulation of survival gene product expression|Rac protein signal transduction|regulation of endocytosis|regulation of epidermal growth factor receptor signaling pathway|Rho protein signal transduction|sprouting angiogenesis	anchored to membrane|caveola|extracellular space|integral to membrane|neuron projection	adiponectin binding|cadherin binding|calcium ion binding|low-density lipoprotein particle binding	g.chr16:83065742C>T	U59288	CCDS56009.1, CCDS56010.1, CCDS58485.1, CCDS58486.1, CCDS58487.1	16q23.3	2013-08-27	2013-08-27			ENSG00000140945		"Cadherins / Major cadherins"	1753	protein-coding gene	gene with protein product	"T-cadherin", "H-cadherin (heart)"	601364				8673923, 9468307	Standard	NM_001257		Approved	CDHH	uc010vns.2	P55290		ENST00000566620.1:c.285C>T	16.37:g.83065742C>T						CDH13_ENST00000446376.2_Silent_p.F95F|CDH13_ENST00000431540.3_Silent_p.F95F|CDH13_ENST00000428848.3_Silent_p.F95F|CDH13_ENST00000565636.1_Silent_p.F95F|CDH13_ENST00000569454.1_3'UTR|CDH13_ENST00000268613.10_Silent_p.F142F	p.F95F	NM_001220488.1|NM_001220489.1|NM_001220490.1|NM_001257.4	NP_001207417.1|NP_001207418.1|NP_001207419.1|NP_001248.1	P55290	CAD13_HUMAN		COAD - Colon adenocarcinoma(5;0.0268)	3	575	+		all_cancers(2;1.34e-11)|all_epithelial(2;4.3e-09)	95					A8W476|A8W477|B7Z590|C9JRI6|J3KN62|Q6GTW4|Q8TBX3	Silent	SNP	ENST00000566620.1	37	c.285C>T	CCDS58486.1																																																																																				0.522	CDH13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432917.1	NM_001257		7	33	0	0	0	1	0	7	33					T	83065742	C	T	83065742	2	4	66	1	0	0	0	0	0	0	0	1	3099	883	31	2		2	CDH13	16	83065742	Silent	SNP	C	TCGA-EJ-5518-01A-01D-1576-08	52270962	83065742	7289011	44	3371											
TMEM220	388335	broad.mit.edu	37	chr17	10628403	10628403	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccaagccaacagcccacaccGtacaaaagagtatgtgtatt	15	7	7	12	1	0	1	0	0	0	1	0	1	0	1	4	0	4	3	4	0	7	4	rs201706506		TCGA-EJ-5518-01A-01D-1576-08	TCGA-EJ-5518-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4377528-6017-41d2-ae39-1f280a2294ad	3c8b1c7e-e15b-49d4-b5bb-4f4a05e92f20	g.chr17:10628403G>A	ENST00000341871.3	-	4	676	c.212C>T	c.(211-213)aCg>aTg	p.T71M	TMEM220_ENST00000578345.1_Missense_Mutation_p.T61M|TMEM220_ENST00000455996.2_Missense_Mutation_p.T61M|TMEM220_ENST00000580186.1_5'UTR	NM_001004313.1	NP_001004313.1	Q6QAJ8	TM220_HUMAN	transmembrane protein 220	71						integral component of membrane (GO:0016021)		p.T71M(1)		kidney(1)|large_intestine(1)|lung(1)|prostate(2)	5						AGCCCACACCGTACAAAAGAG	0.448													G|||	1	0.000199681	0	0	5008	,	,		21826	0.001		0	False		,,,				2504	0					ENST00000341871.3																			1	Substitution - Missense(1)	p.T71M(1)	prostate(1)	kidney(1)|large_intestine(1)|lung(1)|prostate(2)	5						c.(211-213)aCg>aTg		transmembrane protein 220							178	153	162					17																	10628403		2203	4300	6503	SO:0001583	missense	388335					integral to membrane		g.chr17:10628403G>A		CCDS32567.1	17p13.1	2008-08-08			ENSG00000187824	ENSG00000187824			33757	protein-coding gene	gene with protein product							Standard	NM_001004313		Approved		uc002gmx.3	Q6QAJ8		ENST00000341871.3:c.212C>T	17.37:g.10628403G>A	ENSP00000339830:p.Thr71Met					TMEM220_ENST00000455996.2_Missense_Mutation_p.T61M|TMEM220_ENST00000580186.1_5'UTR|TMEM220_ENST00000578345.1_Missense_Mutation_p.T61M	p.T71M	NM_001004313.1	NP_001004313.1	Q6QAJ8	TM220_HUMAN			4	676	-			71					A1YRJ4|B2RNE4|B4DJ52|B9EGW3	Missense_Mutation	SNP	ENST00000341871.3	37	c.212C>T	CCDS32567.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	6.012	0.370605	0.11409	.	.	ENSG00000187824	ENST00000341871;ENST00000455996	.	.	.	5.94	-1.87	0.07737	.	1.511540	0.03430	N	0.207628	T	0.27866	0.0686	N	0.12182	0.205	0.09310	N	1	B;B	0.13145	0.001;0.007	B;B	0.09377	0.001;0.004	T	0.30031	-0.9992	9	0.40728	T	0.16	-35.6664	11.8497	0.52405	0.4581:0.0:0.5419:0.0	.	61;71	Q6QAJ8-2;Q6QAJ8	.;TM220_HUMAN	M	71;61	.	ENSP00000339830:T71M	T	-	2	0	TMEM220	10569128	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.763000	0.26517	-0.297000	0.08934	-2.048000	0.00412	ACG		0.448	TMEM220-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440333.1	NM_001004313		4	137	0	0	0	1	0	4	137					A	10628403	G	A	10628403	3	1	66	1	0	0	0	0	1	0	0	0	16141	1145	40	1	282	1	TMEM220	17	10628403	Missense_Mutation	SNP	G	TCGA-EJ-5518-01A-01D-1576-08		10628403	70566807	45	3372											
NCOR1	9611	broad.mit.edu	37	chr17	15995320	15995320	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	taatgtgtcgctggtagagaGcatagccgctcactggggtt	8	11	14	8	2	1	1	1	0	0	1	2	2	1	1	1	3	2	5	1	3	3	4			TCGA-EJ-5518-01A-01D-1576-08	TCGA-EJ-5518-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4377528-6017-41d2-ae39-1f280a2294ad	3c8b1c7e-e15b-49d4-b5bb-4f4a05e92f20	g.chr17:15995320G>A	ENST00000268712.3	-	22	3130	c.2873C>T	c.(2872-2874)gCt>gTt	p.A958V	NCOR1_ENST00000395851.1_Missense_Mutation_p.A974V|NCOR1_ENST00000395848.1_Missense_Mutation_p.A865V	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN	nuclear receptor corepressor 1	958					CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation (GO:0002361)|cellular lipid metabolic process (GO:0044255)|cholesterol homeostasis (GO:0042632)|chromatin modification (GO:0016568)|circadian regulation of gene expression (GO:0032922)|definitive erythrocyte differentiation (GO:0060318)|gene expression (GO:0010467)|negative regulation of JNK cascade (GO:0046329)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of histone deacetylation (GO:0031065)|regulation of fatty acid transport (GO:2000191)|regulation of glycolytic process by negative regulation of transcription from RNA polymerase II promoter (GO:0072362)|regulation of lipid transport by negative regulation of transcription from RNA polymerase II promoter (GO:0072368)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|spindle assembly (GO:0051225)|thalamus development (GO:0021794)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|histone deacetylase binding (GO:0042826)|histone deacetylase regulator activity (GO:0035033)|nuclear hormone receptor binding (GO:0035257)|RNA polymerase II activating transcription factor binding (GO:0001102)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)	p.A958V(1)		NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		CTGGTAGAGAGCATAGCCGCT	0.428																																						ENST00000268712.3																			1	Substitution - Missense(1)	p.A958V(1)	prostate(1)	NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107						c.(2872-2874)gCt>gTt		nuclear receptor corepressor 1							128	124	126					17																	15995320		2203	4300	6503	SO:0001583	missense	9611				cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter	nuclear chromatin|spindle microtubule|transcriptional repressor complex	histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding	g.chr17:15995320G>A	AF044209	CCDS11175.1, CCDS54094.1, CCDS54095.1	17p11.2	2014-06-12	2010-06-10		ENSG00000141027	ENSG00000141027			7672	protein-coding gene	gene with protein product	"thyroid hormone- and retinoic acid receptor-associated corepressor 1", "protein phosphatase 1, regulatory subunit 109"	600849	"nuclear receptor co-repressor 1"			7566114, 9724795	Standard	NM_006311		Approved	N-CoR, hCIT529I10, TRAC1, hN-CoR, KIAA1047, MGC104216, PPP1R109	uc002gpo.3	O75376	OTTHUMG00000059309	ENST00000268712.3:c.2873C>T	17.37:g.15995320G>A	ENSP00000268712:p.Ala958Val					NCOR1_ENST00000395851.1_Missense_Mutation_p.A974V|NCOR1_ENST00000395848.1_Missense_Mutation_p.A865V	p.A958V	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.101)	22	3130	-			958					B3DLF8|E9PGV6|Q86YY0|Q9UPV5|Q9UQ18	Missense_Mutation	SNP	ENST00000268712.3	37	c.2873C>T	CCDS11175.1	.	.	.	.	.	.	.	.	.	.	G	34	5.306658	0.95629	.	.	ENSG00000141027	ENST00000268712;ENST00000395851;ENST00000395849;ENST00000395848	T;T;T	0.37235	1.21;1.21;1.21	5.56	5.56	0.83823	.	0.152735	0.64402	D	0.000015	T	0.50514	0.1620	L	0.40543	1.245	0.80722	D	1	D;P;D	0.71674	0.998;0.952;0.971	P;P;P	0.61658	0.892;0.612;0.783	T	0.49532	-0.8930	10	0.66056	D	0.02	-9.0983	18.519	0.90944	0.0:0.0:1.0:0.0	.	865;958;974	E9PGV6;O75376;O75376-2	.;NCOR1_HUMAN;.	V	958;974;865;865	ENSP00000268712:A958V;ENSP00000379192:A974V;ENSP00000379189:A865V	ENSP00000268712:A958V	A	-	2	0	NCOR1	15936045	1.000000	0.71417	0.997000	0.53966	0.927000	0.56198	8.922000	0.92789	2.601000	0.87937	0.650000	0.86243	GCT		0.428	NCOR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131751.5	NM_006311		4	166	0	0	0	1	0	4	166					A	15995320	G	A	15995320	3	1	66	1	0	0	0	0	1	0	0	0	10235	971	34	3	4549	3	NCOR1	17	15995320	Missense_Mutation	SNP	G	TCGA-EJ-5518-01A-01D-1576-08	5366917	15995320	65199890	46	3373											
UBB	7314	broad.mit.edu	37	chr17	16285790	16285790	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	agataaagaaggcatcccccCcgaccagcagaggctcatct	13	5	9	14	1	2	3	1	0	1	3	3	4	3	3	4	2	1	3	4	2	3	1			TCGA-EJ-5518-01A-01D-1576-08	TCGA-EJ-5518-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4377528-6017-41d2-ae39-1f280a2294ad	3c8b1c7e-e15b-49d4-b5bb-4f4a05e92f20	g.chr17:16285790C>A	ENST00000395837.1	+	2	750	c.569C>A	c.(568-570)cCc>cAc	p.P190H	RP11-138I1.4_ENST00000583934.1_RNA|UBB_ENST00000302182.3_Missense_Mutation_p.P190H|UBB_ENST00000395839.1_Missense_Mutation_p.P190H|UBB_ENST00000535788.1_Missense_Mutation_p.P114H|UBB_ENST00000578649.1_3'UTR	NM_001281718.1|NM_001281720.1	NP_001268647.1|NP_001268649.1	P0CG47	UBB_HUMAN	ubiquitin B	190	Ubiquitin-like 3. {ECO:0000255|PROSITE- ProRule:PRU00214}.		GMQIFVKTLTGKTITLEVEPSDTIENVKAKIQDKEGIPPDQ QRLIFAGKQLEDGRTLSDYNIQKESTLHLVLRLRGGMQIFV KTLTGKTITLEVEPSDTIENVKAKIQDKEGIPPDQQRLIFA GKQLEDGRTLSDYNIQKESTLHLVLRLRGGC -> YADLRE DPDRQDHHPGSGAQ (in UBB(+1); loss of polyubiquitination; impairs the ubiquitin-proteasome pathway; refractory to disassembly by DUBs; slow degradation by UCHL3).		activation of MAPK activity (GO:0000187)|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|carbohydrate metabolic process (GO:0005975)|cellular response to hypoxia (GO:0071456)|cytokine-mediated signaling pathway (GO:0019221)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|endosomal transport (GO:0016197)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|intracellular transport of virus (GO:0075733)|ion transmembrane transport (GO:0034220)|JNK cascade (GO:0007254)|membrane organization (GO:0061024)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of type I interferon production (GO:0032480)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of apoptotic process (GO:0043065)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of type I interferon production (GO:0032479)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|stress-activated MAPK cascade (GO:0051403)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|transmembrane transport (GO:0055085)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral protein processing (GO:0019082)|virion assembly (GO:0019068)	cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)		p.P190H(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16				UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)		GGCATCCCCCCCGACCAGCAG	0.552																																					Melanoma(163;1126 3406 34901)	ENST00000302182.3																			1	Substitution - Missense(1)	p.P190H(1)	prostate(1)	breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						c.(568-570)cCc>cAc		ubiquitin B							53	58	56					17																	16285790		2203	4297	6500	SO:0001583	missense	7314				activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|viral reproduction	cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane	protein binding	g.chr17:16285790C>A		CCDS11177.1	17p12-p11.2	2010-11-25			ENSG00000170315	ENSG00000170315			12463	protein-coding gene	gene with protein product	"polyubiquitin B"	191339				2154095	Standard	NM_018955		Approved	MGC8385, FLJ25987	uc002gpx.3	P0CG47	OTTHUMG00000058987	ENST00000395837.1:c.569C>A	17.37:g.16285790C>A	ENSP00000379178:p.Pro190His					UBB_ENST00000395839.1_Missense_Mutation_p.P190H|UBB_ENST00000395837.1_Missense_Mutation_p.P190H|RP11-138I1.4_ENST00000583934.1_RNA|UBB_ENST00000578649.1_3'UTR|UBB_ENST00000535788.1_Missense_Mutation_p.P114H	p.P190H	NM_018955.2	NP_061828.1	P0CG47	UBB_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)	2	961	+			190			Ubiquitin-like 3.		P02248|P02249|P02250|P62988|Q29120|Q6LBL4|Q6LDU5|Q8WYN8|Q91887|Q91888|Q9BWD6|Q9BX98|Q9UEF2|Q9UEG1|Q9UEK8|Q9UPK7	Missense_Mutation	SNP	ENST00000395837.1	37	c.569C>A	CCDS11177.1	.	.	.	.	.	.	.	.	.	.	C	14.50	2.552887	0.45487	.	.	ENSG00000170315	ENST00000302182;ENST00000535788;ENST00000395839;ENST00000395837	T;T;T;T	0.75154	-0.91;-0.91;-0.91;-0.91	3.83	3.83	0.44106	Ubiquitin supergroup (1);Ubiquitin conserved site (1);Ubiquitin (2);	0.000000	0.51477	U	0.000082	D	0.87896	0.6293	M	0.93720	3.45	0.80722	D	1	P	0.46784	0.884	P	0.58620	0.842	D	0.91468	0.5194	10	0.87932	D	0	.	15.1539	0.72723	0.0:1.0:0.0:0.0	.	190	P0CG47	UBB_HUMAN	H	190;114;190;190	ENSP00000304697:P190H;ENSP00000437475:P114H;ENSP00000379180:P190H;ENSP00000379178:P190H	ENSP00000304697:P190H	P	+	2	0	UBB	16226515	1.000000	0.71417	0.854000	0.33618	0.799000	0.45148	7.258000	0.78371	1.886000	0.54624	0.549000	0.68633	CCC		0.552	UBB-002	NOVEL	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000130459.1	NM_018955		3	80	1	0	1	1	1	3	80					A	16285790	C	A	16285790	3	1	66	1	0	0	0	0	1	0	0	0	16838	623	22	5	571	5	UBB	17	16285790	Missense_Mutation	SNP	C	TCGA-EJ-5518-01A-01D-1576-08	290470	16285790	64909420	47	3374											
HOXB13	10481	broad.mit.edu	37	chr17	46804355	46804355	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgtacggaatgcgtttctTgcggccgcgacgaaaggcgc	7	8	15	11	7	1	0	0	0	1	0	1	3	1	1	1	3	3	3	1	3	3	3			TCGA-EJ-5518-01A-01D-1576-08	TCGA-EJ-5518-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4377528-6017-41d2-ae39-1f280a2294ad	3c8b1c7e-e15b-49d4-b5bb-4f4a05e92f20	g.chr17:46804355T>C	ENST00000290295.7	-	2	1236	c.652A>G	c.(652-654)Aag>Gag	p.K218E	PRAC2_ENST00000432056.1_RNA|MIR3185_ENST00000583892.1_RNA|PRAC2_ENST00000422730.2_RNA	NM_006361.5	NP_006352.2	Q92826	HXB13_HUMAN	homeobox B13	218					angiogenesis (GO:0001525)|epidermis development (GO:0008544)|epithelial cell maturation involved in prostate gland development (GO:0060743)|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis (GO:0060527)|regulation of growth (GO:0040008)|regulation of transcription, DNA-templated (GO:0006355)|response to testosterone (GO:0033574)|response to wounding (GO:0009611)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	sequence-specific DNA binding (GO:0043565)	p.K218E(1)		endometrium(2)|kidney(2)|lung(6)|prostate(1)	11						ATGCGTTTCTTGCGGCCGCGA	0.622																																						ENST00000290295.7																			1	Substitution - Missense(1)	p.K218E(1)	prostate(1)	endometrium(2)|kidney(2)|lung(6)|prostate(1)	11						c.(652-654)Aag>Gag		homeobox B13							68	65	66					17																	46804355		2203	4300	6503	SO:0001583	missense	10481				angiogenesis|epidermis development|response to wounding		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr17:46804355T>C	U57052	CCDS11536.1	17q21.32	2014-09-17	2005-12-22		ENSG00000159184	ENSG00000159184		"Homeoboxes / ANTP class : HOXL subclass"	5112	protein-coding gene	gene with protein product		604607	"homeo box B13"			8756292, 9665387	Standard	NM_006361		Approved		uc002ioa.3	Q92826	OTTHUMG00000159900	ENST00000290295.7:c.652A>G	17.37:g.46804355T>C	ENSP00000290295:p.Lys218Glu						p.K218E	NM_006361.5	NP_006352.2	Q92826	HXB13_HUMAN			2	1236	-			218					B2R878|Q96QM4|Q99810	Missense_Mutation	SNP	ENST00000290295.7	37	c.652A>G	CCDS11536.1	.	.	.	.	.	.	.	.	.	.	T	35	5.423643	0.96111	.	.	ENSG00000159184	ENST00000290295	D	0.96967	-4.19	5.31	5.31	0.75309	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	D	0.98664	0.9552	H	0.95187	3.635	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	D	0.99748	1.1017	10	0.87932	D	0	.	15.0922	0.72204	0.0:0.0:0.0:1.0	.	218	Q92826	HXB13_HUMAN	E	218	ENSP00000290295:K218E	ENSP00000290295:K218E	K	-	1	0	HOXB13	44159354	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	7.868000	0.87116	2.243000	0.73865	0.533000	0.62120	AAG		0.622	HOXB13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358087.3	NM_006361		20	67	0	0	0	1	0	20	67					C	46804355	T	C	46804355	3	2	66	1	0	0	0	0	1	0	0	0	7300	1821	63	4	206	4	HOXB13	17	46804355	Missense_Mutation	SNP	T	TCGA-EJ-5518-01A-01D-1576-08	30518565	46804355	34390855	48	3375											
SEC14L1	6397	broad.mit.edu	37	chr17	75205504	75205504	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gagaacgaagacctgaagctCtggactgagaccatctacca	14	6	10	11	1	2	4	0	2	2	3	2	8	2	5	3	1	3	1	3	1	4	1			TCGA-EJ-5518-01A-01D-1576-08	TCGA-EJ-5518-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4377528-6017-41d2-ae39-1f280a2294ad	3c8b1c7e-e15b-49d4-b5bb-4f4a05e92f20	g.chr17:75205504C>G	ENST00000413679.2	+	14	1860	c.1557C>G	c.(1555-1557)ctC>ctG	p.L519L	SEC14L1_ENST00000443798.4_Silent_p.L519L|SEC14L1_ENST00000436233.4_Silent_p.L519L|SEC14L1_ENST00000585618.1_Silent_p.L519L|SEC14L1_ENST00000430767.4_Silent_p.L519L|SEC14L1_ENST00000431431.2_Silent_p.L485L|SEC14L1_ENST00000392476.2_Silent_p.L519L|SEC14L1_ENST00000591437.1_Silent_p.L485L	NM_001143998.1|NM_001143999.1|NM_003003.3	NP_001137470|NP_001137471|NP_002994	Q92503	S14L1_HUMAN	SEC14-like 1 (S. cerevisiae)	519					transport (GO:0006810)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)		p.L519L(1)		NS(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(2)	31						ACCTGAAGCTCTGGACTGAGA	0.587																																						ENST00000413679.2																			1	Substitution - coding silent(1)	p.L519L(1)	prostate(1)	NS(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(2)	31						c.(1555-1557)ctC>ctG		SEC14-like 1 (S. cerevisiae)							84	69	74					17																	75205504		2203	4300	6503	SO:0001819	synonymous_variant	6397				transport	Golgi apparatus|integral to membrane	binding	g.chr17:75205504C>G	D67029	CCDS11752.1, CCDS42385.1, CCDS45789.1	17q25.2	2008-02-01	2001-11-28			ENSG00000129657			10698	protein-coding gene	gene with protein product		601504	"SEC14 (S. cerevisiae)-like 1"	SEC14L		8697811	Standard	NM_001143998		Approved	PRELID4A	uc002jto.3	Q92503		ENST00000413679.2:c.1557C>G	17.37:g.75205504C>G						SEC14L1_ENST00000392476.2_Silent_p.L519L|SEC14L1_ENST00000431431.2_Silent_p.L485L|SEC14L1_ENST00000430767.4_Silent_p.L519L|SEC14L1_ENST00000585618.1_Silent_p.L519L|SEC14L1_ENST00000591437.1_Silent_p.L485L|SEC14L1_ENST00000436233.4_Silent_p.L519L|SEC14L1_ENST00000443798.4_Silent_p.L519L	p.L519L	NM_001143998.1|NM_001143999.1|NM_003003.3	NP_001137470.1|NP_001137471.1|NP_002994.3	Q92503	S14L1_HUMAN			14	1860	+			519					A8K4E8|B4DDI5|D5G3K1|Q99780	Silent	SNP	ENST00000413679.2	37	c.1557C>G	CCDS11752.1																																																																																				0.587	SEC14L1-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000436240.1	NM_003003		9	30	0	0	0	1	0	9	30					G	75205504	C	G	75205504	2	3	66	1	0	0	0	0	0	0	0	1	13981	900	32	5		5	SEC14L1	17	75205504	Silent	SNP	C	TCGA-EJ-5518-01A-01D-1576-08	28401149	75205504	5989706	49	3376											
ANKRD24	170961	broad.mit.edu	37	chr19	4207577	4207577	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cctactgcagcaaggggctgCcgcgaacgatcaggacctgc	9	5	13	14	3	1	0	1	0	0	0	1	3	1	1	3	3	6	3	3	3	3	1			TCGA-EJ-5518-01A-01D-1576-08	TCGA-EJ-5518-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4377528-6017-41d2-ae39-1f280a2294ad	3c8b1c7e-e15b-49d4-b5bb-4f4a05e92f20	g.chr19:4207577C>T	ENST00000600132.1	+	9	893	c.617C>T	c.(616-618)gCc>gTc	p.A206V	RN7SL84P_ENST00000578969.1_RNA|ANKRD24_ENST00000262970.5_Missense_Mutation_p.A296V|ANKRD24_ENST00000318934.4_Missense_Mutation_p.A206V	NM_133475.1	NP_597732.1	Q8TF21	ANR24_HUMAN	ankyrin repeat domain 24	206								p.A98V(1)|p.A296V(1)|p.A206V(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)	21				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0233)|STAD - Stomach adenocarcinoma(1328;0.181)		CAAGGGGCTGCCGCGAACGAT	0.577											OREG0025162	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000600132.1																			3	Substitution - Missense(3)	p.A98V(1)|p.A296V(1)|p.A206V(1)	prostate(3)	endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)	21						c.(616-618)gCc>gTc		ankyrin repeat domain 24							82	84	83					19																	4207577		2105	4210	6315	SO:0001583	missense	170961							g.chr19:4207577C>T	AB075861	CCDS45925.1	19p13.3	2013-01-10				ENSG00000089847		"Ankyrin repeat domain containing"	29424	protein-coding gene	gene with protein product						11853319	Standard	NM_133475		Approved	KIAA1981	uc010dtt.1	Q8TF21		ENST00000600132.1:c.617C>T	19.37:g.4207577C>T	ENSP00000471252:p.Ala206Val		OREG0025162	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	617	ANKRD24_ENST00000318934.4_Missense_Mutation_p.A206V|ANKRD24_ENST00000262970.5_Missense_Mutation_p.A296V	p.A206V	NM_133475.1	NP_597732.1	Q8TF21	ANR24_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0233)|STAD - Stomach adenocarcinoma(1328;0.181)	9	893	+			206					O75268|O95781	Missense_Mutation	SNP	ENST00000600132.1	37	c.617C>T	CCDS45925.1	.	.	.	.	.	.	.	.	.	.	C	12.46	1.945401	0.34377	.	.	ENSG00000089847	ENST00000318934;ENST00000262970	T;T	0.30182	1.54;1.54	4.65	3.6	0.41247	Ankyrin repeat-containing domain (3);	0.296547	0.18818	N	0.130316	T	0.22475	0.0542	N	0.16790	0.44	0.21740	N	0.999562	B;P	0.39940	0.288;0.696	B;B	0.43838	0.15;0.433	T	0.06826	-1.0805	10	0.52906	T	0.07	-2.3375	8.6692	0.34140	0.0:0.8914:0.0:0.1086	.	206;296	Q8TF21;Q8TF21-2	ANR24_HUMAN;.	V	206;296	ENSP00000321731:A206V;ENSP00000262970:A296V	ENSP00000262970:A296V	A	+	2	0	ANKRD24	4158577	0.256000	0.24012	0.682000	0.30024	0.086000	0.17979	2.984000	0.49353	0.950000	0.37743	0.456000	0.33151	GCC		0.577	ANKRD24-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000458188.1	XM_114000		3	81	0	0	0	1	0	3	81					T	4207577	C	T	4207577	3	4	66	1	0	0	0	0	1	0	0	0	653	739	26	3	647	3	ANKRD24	19	4207577	Missense_Mutation	SNP	C	TCGA-EJ-5518-01A-01D-1576-08		4207577	54921406	50	3377											
OR7A5	26659	broad.mit.edu	37	chr19	14938449	14938449	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctccacccagcagcgcaactGtaaaatatatcaccatgtga	14	8	6	13	1	1	1	1	1	0	0	2	1	2	1	3	0	3	3	3	0	5	3			TCGA-EJ-5518-01A-01D-1576-08	TCGA-EJ-5518-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4377528-6017-41d2-ae39-1f280a2294ad	3c8b1c7e-e15b-49d4-b5bb-4f4a05e92f20	g.chr19:14938449G>T	ENST00000322301.3	-	2	692	c.605C>A	c.(604-606)aCa>aAa	p.T202K	OR7A5_ENST00000601611.1_Intron|OR7A5_ENST00000594432.1_Missense_Mutation_p.T202K			Q15622	OR7A5_HUMAN	olfactory receptor, family 7, subfamily A, member 5	202					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.T202K(1)		breast(1)|central_nervous_system(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	26						CAGCGCAACTGTAAAATATAT	0.428																																						ENST00000322301.3																			1	Substitution - Missense(1)	p.T202K(1)	prostate(1)	breast(1)|central_nervous_system(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	26						c.(604-606)aCa>aAa		olfactory receptor, family 7, subfamily A, member 5							65	63	64					19																	14938449		2203	4300	6503	SO:0001583	missense	26659				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr19:14938449G>T	X64976	CCDS12318.1	19p13.1	2012-08-09	2003-12-09			ENSG00000188269		"GPCR / Class A : Olfactory receptors"	8368	protein-coding gene	gene with protein product			"olfactory receptor, family 7, subfamily A, member 5 pseudogene"				Standard	XM_006722722		Approved	HTPCR2	uc002mzw.3	Q15622		ENST00000322301.3:c.605C>A	19.37:g.14938449G>T	ENSP00000316955:p.Thr202Lys					OR7A5_ENST00000601611.1_Intron|OR7A5_ENST00000594432.1_Missense_Mutation_p.T202K	p.T202K			Q15622	OR7A5_HUMAN			2	692	-			202					B2R682|Q6IFP1|Q96R96	Missense_Mutation	SNP	ENST00000322301.3	37	c.605C>A	CCDS12318.1	.	.	.	.	.	.	.	.	.	.	g	12.10	1.837238	0.32513	.	.	ENSG00000188269	ENST00000322301	T	0.00115	8.71	3.13	-0.301	0.12800	GPCR, rhodopsin-like superfamily (1);	1.391340	0.05978	U	0.643713	T	0.00210	0.0006	M	0.76938	2.355	0.09310	N	1	B	0.30104	0.268	B	0.33121	0.158	T	0.31971	-0.9924	10	0.72032	D	0.01	.	2.7073	0.05165	0.3746:0.0:0.4169:0.2085	.	202	Q15622	OR7A5_HUMAN	K	202	ENSP00000316955:T202K	ENSP00000316955:T202K	T	-	2	0	OR7A5	14799449	0.000000	0.05858	0.000000	0.03702	0.469000	0.32828	-1.651000	0.01989	0.206000	0.20587	0.134000	0.15878	ACA		0.428	OR7A5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466518.1	NM_017506		5	95	1	0	1.23904e-05	1	1.36294e-05	5	95					T	14938449	G	T	14938449	3	4	66	1	0	0	0	0	1	0	0	0	11216	1377	48	5	358	5	OR7A5	19	14938449	Missense_Mutation	SNP	G	TCGA-EJ-5518-01A-01D-1576-08	10730872	14938449	44190534	51	3378											
ZNF492	57615	broad.mit.edu	37	chr19	22836775	22836775	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gtctggagcaaggaaaagaaCcttggaatgtgaagagacat	16	7	13	5	0	1	3	0	1	1	2	1	7	1	6	1	3	2	1	1	3	6	1			TCGA-EJ-5518-01A-01D-1576-08	TCGA-EJ-5518-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4377528-6017-41d2-ae39-1f280a2294ad	3c8b1c7e-e15b-49d4-b5bb-4f4a05e92f20	g.chr19:22836775C>T	ENST00000456783.2	+	3	332	c.88C>T	c.(88-90)Cct>Tct	p.P30S		NM_020855.2	NP_065906.1	Q9P255	ZN492_HUMAN	zinc finger protein 492	30	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.P30S(1)		endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		all_cancers(12;0.0266)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00203)|Hepatocellular(1079;0.244)				AGGAAAAGAACCTTGGAATGT	0.423																																						ENST00000456783.2																			1	Substitution - Missense(1)	p.P30S(1)	prostate(1)	endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(88-90)Cct>Tct		zinc finger protein 492							97	111	106					19																	22836775		2201	4298	6499	SO:0001583	missense	57615				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:22836775C>T	AB040906	CCDS46032.1	19p13.11	2013-01-08				ENSG00000229676		"Zinc fingers, C2H2-type"	23707	protein-coding gene	gene with protein product			"zinc finger protein 115 (Y20)"	ZNF115		10819331	Standard	NM_020855		Approved	KIAA1473	uc002nqw.3	Q9P255		ENST00000456783.2:c.88C>T	19.37:g.22836775C>T	ENSP00000413660:p.Pro30Ser						p.P30S	NM_020855.2	NP_065906.1	Q9P255	ZN492_HUMAN			3	332	+		all_cancers(12;0.0266)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00203)|Hepatocellular(1079;0.244)	30			KRAB.		Q08EI7|Q08EI8	Missense_Mutation	SNP	ENST00000456783.2	37	c.88C>T	CCDS46032.1	.	.	.	.	.	.	.	.	.	.	.	9.814	1.184047	0.21870	.	.	ENSG00000229676	ENST00000456783	T	0.10573	2.86	0.458	0.458	0.16670	Krueppel-associated box (2);	.	.	.	.	T	0.28830	0.0715	M	0.84219	2.685	0.09310	N	1	D	0.71674	0.998	D	0.65010	0.931	T	0.04796	-1.0926	8	0.52906	T	0.07	.	.	.	.	.	30	Q9P255	ZN492_HUMAN	S	30	ENSP00000413660:P30S	ENSP00000413660:P30S	P	+	1	0	ZNF492	22628615	0.674000	0.27549	0.100000	0.21137	0.091000	0.18340	1.166000	0.31834	0.482000	0.27582	0.484000	0.47621	CCT		0.423	ZNF492-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464581.1	NM_020855		42	102	0	0	0	1	0	42	102					T	22836775	C	T	22836775	3	4	66	1	0	0	0	0	1	0	0	0	17940	507	18	3	94	3	ZNF492	19	22836775	Missense_Mutation	SNP	C	TCGA-EJ-5518-01A-01D-1576-08	7898326	22836775	36292208	52	3379											
MAP4K1	11184	broad.mit.edu	37	chr19	39088138	39088138	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctggtaccttgccagtaggCggtgggggctaatgtgagcg	6	9	18	8	2	0	1	0	1	0	0	0	1	0	1	2	5	3	4	2	5	3	4			TCGA-EJ-5518-01A-01D-1576-08	TCGA-EJ-5518-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4377528-6017-41d2-ae39-1f280a2294ad	3c8b1c7e-e15b-49d4-b5bb-4f4a05e92f20	g.chr19:39088138C>T	ENST00000591517.1	-	23	1794	c.1766G>A	c.(1765-1767)cGc>cAc	p.R589H	MAP4K1_ENST00000586296.1_Intron|MAP4K1_ENST00000423454.2_Missense_Mutation_p.A231T|MAP4K1_ENST00000589130.1_Missense_Mutation_p.R585H|MAP4K1_ENST00000396857.2_Missense_Mutation_p.R589H|CTB-186G2.1_ENST00000589557.1_RNA	NM_007181.4	NP_009112.1	Q92918	M4K1_HUMAN	mitogen-activated protein kinase kinase kinase kinase 1	589	CNH. {ECO:0000255|PROSITE- ProRule:PRU00795}.				activation of JUN kinase activity (GO:0007257)|activation of MAPKKK activity (GO:0000185)|cell proliferation (GO:0008283)|intracellular signal transduction (GO:0035556)|peptidyl-serine phosphorylation (GO:0018105)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|response to stress (GO:0006950)	membrane (GO:0016020)	ATP binding (GO:0005524)|MAP kinase kinase kinase kinase activity (GO:0008349)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)	p.R589H(2)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(24)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	44	all_cancers(60;6.42e-06)|Ovarian(47;0.103)		Lung(45;0.000751)|LUSC - Lung squamous cell carcinoma(53;0.00272)			TGCCAGTAGGCGGTGGGGGCT	0.572																																						ENST00000591517.1																			2	Substitution - Missense(2)	p.R589H(2)	prostate(2)	breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(24)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	44						c.(1765-1767)cGc>cAc		mitogen-activated protein kinase kinase kinase kinase 1							81	85	84					19																	39088138		2024	4165	6189	SO:0001583	missense	11184				activation of JUN kinase activity|peptidyl-serine phosphorylation		ATP binding|MAP kinase kinase kinase kinase activity|protein binding|small GTPase regulator activity	g.chr19:39088138C>T	U66464	CCDS42564.1, CCDS59385.1	19q13.1-q13.4	2011-06-09				ENSG00000104814	2.7.11.1	"Mitogen-activated protein kinase cascade / Kinase kinase kinase kinases"	6863	protein-coding gene	gene with protein product	"hematopoietic progenitor kinase 1"	601983				8824585	Standard	NM_001042600		Approved	HPK1	uc002oix.1	Q92918		ENST00000591517.1:c.1766G>A	19.37:g.39088138C>T	ENSP00000465039:p.Arg589His					MAP4K1_ENST00000423454.2_Missense_Mutation_p.A231T|MAP4K1_ENST00000586296.1_Intron|MAP4K1_ENST00000396857.2_Missense_Mutation_p.R589H|CTB-186G2.1_ENST00000589557.1_RNA|MAP4K1_ENST00000589130.1_Missense_Mutation_p.R585H	p.R589H	NM_007181.4	NP_009112.1	Q92918	M4K1_HUMAN	Lung(45;0.000751)|LUSC - Lung squamous cell carcinoma(53;0.00272)		23	1794	-	all_cancers(60;6.42e-06)|Ovarian(47;0.103)		589			CNH.			Missense_Mutation	SNP	ENST00000591517.1	37	c.1766G>A	CCDS59385.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	25.6|25.6	4.659383|4.659383	0.88154|0.88154	.|.	.|.	ENSG00000104814|ENSG00000104814	ENST00000423454|ENST00000396857;ENST00000221409	T|T	0.11169|0.75154	2.8|-0.91	5.25|5.25	5.25|5.25	0.73442|0.73442	.|Citron-like (3);	.|0.258863	.|0.30101	.|N	.|0.010406	D|D	0.84986|0.84986	0.5594|0.5594	M|M	0.70595|0.70595	2.14|2.14	0.24671|0.24671	N|N	0.99341|0.99341	B|D;D	0.32128|0.89917	0.357|1.0;1.0	B|D;D	0.21151|0.73380	0.033|0.966;0.98	T|T	0.78432|0.78432	-0.2206|-0.2206	9|10	0.21540|0.87932	T|D	0.41|0	.|.	15.9371|15.9371	0.79720|0.79720	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	231|589;589	B4E087|Q92918-2;Q92918	.|.;M4K1_HUMAN	T|H	231|589	ENSP00000396383:A231T|ENSP00000380066:R589H	ENSP00000396383:A231T|ENSP00000221409:R589H	A|R	-|-	1|2	0|0	MAP4K1|MAP4K1	43779978|43779978	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.991000|0.991000	0.79684|0.79684	2.369000|2.369000	0.44231|0.44231	2.752000|2.752000	0.94435|0.94435	0.555000|0.555000	0.69702|0.69702	GCC|CGC		0.572	MAP4K1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000453390.1	NM_001042600		4	142	0	0	0	1	0	4	142					T	39088138	C	T	39088138	3	4	66	1	0	0	0	0	1	0	0	0	9259	768	27	1	837	1	MAP4K1	19	39088138	Missense_Mutation	SNP	C	TCGA-EJ-5518-01A-01D-1576-08	16251363	39088138	20040845	53	3380											
CEACAM6	4680	broad.mit.edu	37	chr19	42260828	42260828	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacaagtcataaagtcagatCttgtgaatgaagaagcaacc	17	9	8	7	0	3	4	2	2	1	2	3	4	3	4	1	0	3	1	1	0	8	3			TCGA-EJ-5518-01A-01D-1576-08	TCGA-EJ-5518-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4377528-6017-41d2-ae39-1f280a2294ad	3c8b1c7e-e15b-49d4-b5bb-4f4a05e92f20	g.chr19:42260828C>A	ENST00000199764.6	+	2	603	c.385C>A	c.(385-387)Ctt>Att	p.L129I	CEA_ENST00000598976.1_Intron|AC011513.4_ENST00000601409.1_RNA	NM_002483.4	NP_002474.3	P40199	CEAM6_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 6 (non-specific cross reacting antigen)	129	Ig-like V-type.				cell-cell signaling (GO:0007267)|signal transduction (GO:0007165)	anchored component of membrane (GO:0031225)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)		p.L129I(1)		breast(1)|kidney(4)|large_intestine(1)|lung(4)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	18				OV - Ovarian serous cystadenocarcinoma(3;0.00575)|all cancers(3;0.0352)|Epithelial(262;0.0797)		AAAGTCAGATCTTGTGAATGA	0.473																																						ENST00000199764.6																			1	Substitution - Missense(1)	p.L129I(1)	prostate(1)	breast(1)|kidney(4)|large_intestine(1)|lung(4)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	18						c.(385-387)Ctt>Att		carcinoembryonic antigen-related cell adhesion molecule 6 (non-specific cross reacting antigen)							294	288	290					19																	42260828		2203	4300	6503	SO:0001583	missense	4680				cell-cell signaling|signal transduction	anchored to membrane|integral to plasma membrane		g.chr19:42260828C>A	M29541	CCDS12585.1	19q13.1-q13.2	2013-01-29			ENSG00000086548	ENSG00000086548		"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	1818	protein-coding gene	gene with protein product		163980		NCA			Standard	NM_002483		Approved	CD66c	uc002orm.2	P40199	OTTHUMG00000151064	ENST00000199764.6:c.385C>A	19.37:g.42260828C>A	ENSP00000199764:p.Leu129Ile					CEA_ENST00000598976.1_Intron	p.L129I	NM_002483.4	NP_002474.3	P40199	CEAM6_HUMAN		OV - Ovarian serous cystadenocarcinoma(3;0.00575)|all cancers(3;0.0352)|Epithelial(262;0.0797)	2	603	+			129			Ig-like V-type.		Q13774|Q14920|Q53XP7	Missense_Mutation	SNP	ENST00000199764.6	37	c.385C>A	CCDS12585.1	.	.	.	.	.	.	.	.	.	.	C	7.969	0.748690	0.15710	.	.	ENSG00000086548	ENST00000199764	T	0.01584	4.75	2.15	1.06	0.20224	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.07143	0.0181	M	0.83312	2.635	0.09310	N	1	P	0.44090	0.826	D	0.63113	0.911	T	0.27157	-1.0082	9	0.22706	T	0.39	.	3.9981	0.09568	0.0:0.2285:0.0:0.7715	.	129	P40199	CEAM6_HUMAN	I	129	ENSP00000199764:L129I	ENSP00000199764:L129I	L	+	1	0	CEACAM6	46952668	0.000000	0.05858	0.003000	0.11579	0.015000	0.08874	-1.630000	0.02028	0.077000	0.16863	0.305000	0.20034	CTT		0.473	CEACAM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321147.1			6	480	1	0	2.0095e-06	1	2.24248e-06	6	480					A	42260828	C	A	42260828	3	1	66	1	0	0	0	0	1	0	0	0	3196	913	32	5	391	5	CEACAM6	19	42260828	Missense_Mutation	SNP	C	TCGA-EJ-5518-01A-01D-1576-08	3172690	42260828	16868155	54	3381											
LIMK2	3985	broad.mit.edu	37	chr22	31662009	31662009	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gttcagccgtgacatcagccGctcagaatcccttcgttgtt	7	12	9	13	3	3	2	3	1	0	1	5	2	4	2	3	0	2	4	3	0	1	4			TCGA-EJ-5518-01A-01D-1576-08	TCGA-EJ-5518-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4377528-6017-41d2-ae39-1f280a2294ad	3c8b1c7e-e15b-49d4-b5bb-4f4a05e92f20	g.chr22:31662009G>T	ENST00000331728.4	+	8	1046	c.932G>T	c.(931-933)cGc>cTc	p.R311L	LIMK2_ENST00000406516.1_Missense_Mutation_p.R233L|LIMK2_ENST00000444929.2_Missense_Mutation_p.R65L|LIMK2_ENST00000340552.4_Missense_Mutation_p.R290L|LIMK2_ENST00000333611.4_Missense_Mutation_p.R290L	NM_005569.3	NP_005560.1	P53671	LIMK2_HUMAN	LIM domain kinase 2	311					phosphorylation (GO:0016310)|spermatogenesis (GO:0007283)	cis-Golgi network (GO:0005801)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|zinc ion binding (GO:0008270)	p.R311L(2)		endometrium(7)|kidney(3)|large_intestine(6)|lung(6)|ovary(2)|prostate(4)|skin(1)	29						GACATCAGCCGCTCAGAATCC	0.582																																						ENST00000331728.4																			2	Substitution - Missense(2)	p.R311L(2)	prostate(2)	endometrium(7)|kidney(3)|large_intestine(6)|lung(6)|ovary(2)|prostate(4)|skin(1)	29						c.(931-933)cGc>cTc		LIM domain kinase 2							92	91	91					22																	31662009		2203	4300	6503	SO:0001583	missense	3985					mitochondrion|nucleus	ATP binding|protein serine/threonine kinase activity|zinc ion binding	g.chr22:31662009G>T	D45906	CCDS13891.1, CCDS13892.1, CCDS33637.1	22q12	2005-01-21			ENSG00000182541	ENSG00000182541			6614	protein-coding gene	gene with protein product		601988				8537403, 10591208	Standard	NM_005569		Approved		uc003akh.3	P53671	OTTHUMG00000151251	ENST00000331728.4:c.932G>T	22.37:g.31662009G>T	ENSP00000332687:p.Arg311Leu					LIMK2_ENST00000444929.2_Missense_Mutation_p.R65L|LIMK2_ENST00000406516.1_Missense_Mutation_p.R233L|LIMK2_ENST00000340552.4_Missense_Mutation_p.R290L|LIMK2_ENST00000333611.4_Missense_Mutation_p.R290L	p.R311L	NM_005569.3	NP_005560.1	P53671	LIMK2_HUMAN			8	1046	+			311					A8K6H5|Q7KZ80|Q7L3H5|Q96E10|Q99464|Q9UFU0	Missense_Mutation	SNP	ENST00000331728.4	37	c.932G>T	CCDS13891.1	.	.	.	.	.	.	.	.	.	.	G	26.0	4.693314	0.88735	.	.	ENSG00000182541	ENST00000406516;ENST00000444929;ENST00000331728;ENST00000436394;ENST00000333611;ENST00000340552	D;D;D;D;D	0.88277	-2.36;-2.36;-2.36;-2.36;-2.36	5.15	3.01	0.34805	Protein kinase-like domain (1);	0.049745	0.85682	D	0.000000	D	0.93141	0.7816	M	0.79258	2.445	0.58432	D	0.999996	D;D;D;D;D	0.89917	0.999;0.999;1.0;0.993;0.965	D;D;D;P;B	0.81914	0.975;0.934;0.995;0.815;0.334	D	0.92486	0.5996	10	0.87932	D	0	-20.8248	10.1651	0.42875	0.0751:0.1367:0.7881:0.0	.	343;290;65;311;233	F5GY29;Q7L3H5;E7EUC1;P53671;B5MC51	.;.;.;LIMK2_HUMAN;.	L	233;65;311;343;290;290	ENSP00000384602:R233L;ENSP00000409522:R65L;ENSP00000332687:R311L;ENSP00000330470:R290L;ENSP00000339916:R290L	ENSP00000332687:R311L	R	+	2	0	LIMK2	29992009	1.000000	0.71417	0.996000	0.52242	0.994000	0.84299	9.420000	0.97426	0.650000	0.30769	0.467000	0.42956	CGC		0.582	LIMK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321911.1	NM_016733		3	98	1	0	0.150653	1	0.152636	3	98					T	31662009	G	T	31662009	3	4	66	1	0	0	0	0	1	0	0	0	8802	1087	38	5	1019	5	LIMK2	22	31662009	Missense_Mutation	SNP	G	TCGA-EJ-5518-01A-01D-1576-08		31662009	19642557	55	3382											
ATXN3L	92552	broad.mit.edu	37	chrX	13337265	13337265	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gatgtctttggaagatcttgCgatgtgtttccggaactacc	8	14	11	8	2	2	1	0	0	2	1	3	5	3	3	2	2	3	1	2	2	3	4			TCGA-EJ-5518-01A-01D-1576-08	TCGA-EJ-5518-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4377528-6017-41d2-ae39-1f280a2294ad	3c8b1c7e-e15b-49d4-b5bb-4f4a05e92f20	g.chrX:13337265C>T	ENST00000380622.2	-	1	1253	c.789G>A	c.(787-789)tcG>tcA	p.S263S	GS1-600G8.3_ENST00000431486.1_RNA	NM_001135995.1	NP_001129467.1	Q9H3M9	ATX3L_HUMAN	ataxin 3-like	263					protein deubiquitination (GO:0016579)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	omega peptidase activity (GO:0008242)|ubiquitin-specific protease activity (GO:0004843)	p.S263S(1)		endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	28						GAAGATCTTGCGATGTGTTTC	0.433																																						ENST00000380622.2																			1	Substitution - coding silent(1)	p.S263S(1)	prostate(1)	endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	28						c.(787-789)tcG>tcA		ataxin 3-like							348	297	313					X																	13337265		1568	3582	5150	SO:0001819	synonymous_variant	92552				protein deubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ubiquitin-specific protease activity	g.chrX:13337265C>T		CCDS48080.1	Xp22	2010-09-30			ENSG00000123594	ENSG00000123594			24173	protein-coding gene	gene with protein product		300920					Standard	NM_001135995		Approved	MJDL	uc010ned.3	Q9H3M9	OTTHUMG00000021146	ENST00000380622.2:c.789G>A	X.37:g.13337265C>T						GS1-600G8.3_ENST00000431486.1_RNA	p.S263S	NM_001135995.1	NP_001129467.1	Q9H3M9	ATX3L_HUMAN			1	1253	-			263					B2RNY8	Silent	SNP	ENST00000380622.2	37	c.789G>A	CCDS48080.1																																																																																				0.433	ATXN3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055785.2	NM_001135995		203	192	0	0	0	1	0	203	192					T	13337265	C	T	13337265	2	4	66	1	0	0	0	0	0	0	0	1	1214	755	27	1		1	ATXN3L	23	13337265	Silent	SNP	C	TCGA-EJ-5518-01A-01D-1576-08		13337265	141933295	56	3383											
PCDH19	57526	broad.mit.edu	37	chrX	99551705	99551705	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtttggtggggccgcagtcgTcataagcctcgacatcagca	8	9	13	11	3	2	0	2	0	0	0	4	1	2	0	2	3	2	3	2	3	1	2			TCGA-EJ-5518-01A-01D-1576-08	TCGA-EJ-5518-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4377528-6017-41d2-ae39-1f280a2294ad	3c8b1c7e-e15b-49d4-b5bb-4f4a05e92f20	g.chrX:99551705T>C	ENST00000373034.4	-	6	4692	c.3017A>G	c.(3016-3018)gAc>gGc	p.D1006G	PCDH19_ENST00000420881.2_Missense_Mutation_p.D958G|PCDH19_ENST00000255531.7_Missense_Mutation_p.D959G|PCDH19_ENST00000464981.1_5'Flank	NM_001184880.1	NP_001171809.1	Q8TAB3	PCD19_HUMAN	protocadherin 19	1006					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.D1006G(1)|p.D459G(1)		breast(5)|endometrium(11)|kidney(1)|large_intestine(14)|liver(1)|lung(23)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	68						GCCGCAGTCGTCATAAGCCTC	0.577																																						ENST00000373034.4																			2	Substitution - Missense(2)	p.D1006G(1)|p.D459G(1)	prostate(2)	breast(5)|endometrium(11)|kidney(1)|large_intestine(14)|liver(1)|lung(23)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	68						c.(3016-3018)gAc>gGc		protocadherin 19							80	79	80					X																	99551705		2114	4216	6330	SO:0001583	missense	57526				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chrX:99551705T>C	AB037734	CCDS43976.1, CCDS48141.1, CCDS55462.1	Xq22.1	2014-06-28			ENSG00000165194	ENSG00000165194		"Cadherins / Protocadherins : Non-clustered"	14270	protein-coding gene	gene with protein product		300460	"epilepsy, female restricted, with mental retardation (Juberg-Hellman syndrome)"	EFMR		11549318, 18469813, 19752159	Standard	NM_020766		Approved	KIAA1313, EIEE9	uc010nmz.3	Q8TAB3	OTTHUMG00000022000	ENST00000373034.4:c.3017A>G	X.37:g.99551705T>C	ENSP00000362125:p.Asp1006Gly					PCDH19_ENST00000255531.7_Missense_Mutation_p.D959G|PCDH19_ENST00000420881.2_Missense_Mutation_p.D958G	p.D1006G	NM_001184880.1	NP_001171809.1	Q8TAB3	PCD19_HUMAN			6	4692	-			1006					B0LDS4|E9PAM6|Q5JTG1|Q5JTG2|Q68DT7|Q9P2N3	Missense_Mutation	SNP	ENST00000373034.4	37	c.3017A>G	CCDS55462.1	.	.	.	.	.	.	.	.	.	.	T	11.70	1.717523	0.30413	.	.	ENSG00000165194	ENST00000420881;ENST00000373034;ENST00000255531	T;T;T	0.52526	0.66;0.7;0.66	5.84	4.67	0.58626	.	0.253268	0.41294	D	0.000916	T	0.24314	0.0589	N	0.04508	-0.205	0.38485	D	0.947821	B;B;B	0.23442	0.085;0.0;0.0	B;B;B	0.19666	0.026;0.0;0.0	T	0.08229	-1.0732	10	0.49607	T	0.09	.	7.8359	0.29369	0.0:0.0754:0.1456:0.779	.	1006;959;958	Q8TAB3;Q8TAB3-2;E9PAM6	PCD19_HUMAN;.;.	G	958;1006;959	ENSP00000400327:D958G;ENSP00000362125:D1006G;ENSP00000255531:D959G	ENSP00000255531:D959G	D	-	2	0	PCDH19	99438361	1.000000	0.71417	0.986000	0.45419	0.996000	0.88848	4.769000	0.62300	0.825000	0.34637	0.486000	0.48141	GAC		0.577	PCDH19-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057479.2	NM_020766		3	52	0	0	0	1	0	3	52					C	99551705	T	C	99551705	3	2	66	1	0	0	0	0	1	0	0	0	11514	1667	58	4	433	4	PCDH19	23	99551705	Missense_Mutation	SNP	T	TCGA-EJ-5518-01A-01D-1576-08	86214440	99551705	55718855	57	3384											
C1orf38	9473	broad.mit.edu	37	chr1	28208523	28208523	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcccttctaccctggaggtcGacgtggaggacgtcaccgcc	6	8	12	15	4	2	0	1	0	1	0	4	4	3	3	4	4	1	0	4	4	1	2			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr1:28208523G>T	ENST00000373921.3	+	4	692	c.688G>T	c.(688-690)Gac>Tac	p.D230Y	THEMIS2_ENST00000328928.7_Missense_Mutation_p.D230Y|THEMIS2_ENST00000373925.1_Intron|THEMIS2_ENST00000373927.3_Intron	NM_001105556.1	NP_001099026.1	Q5TEJ8	THMS2_HUMAN	thymocyte selection associated family member 2	230	CABIT 1.				cell adhesion (GO:0007155)|inflammatory response (GO:0006954)|T cell receptor signaling pathway (GO:0050852)	cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.D230Y(1)									CCTGGAGGTCGACGTGGAGGA	0.642																																						ENST00000373921.3																			1	Substitution - Missense(1)	p.D230Y(1)	prostate(1)								c.(688-690)Gac>Tac		thymocyte selection associated family member 2							62	64	64					1																	28208523		2123	4250	6373	SO:0001583	missense	9473							g.chr1:28208523G>T	AF044896	CCDS30653.1, CCDS30654.1, CCDS41290.1, CCDS65461.1	1p35.2	2012-07-10	2012-07-10	2012-07-10	ENSG00000130775	ENSG00000130775			16839	protein-coding gene	gene with protein product	"induced by contact to basement membrane 1"		"chromosome 1 open reading frame 38"	C1orf38		16219472	Standard	XM_005246041		Approved	ICB-1, Icb-1	uc001bpc.4	Q5TEJ8	OTTHUMG00000003735	ENST00000373921.3:c.688G>T	1.37:g.28208523G>T	ENSP00000363031:p.Asp230Tyr					THEMIS2_ENST00000373927.3_Intron|THEMIS2_ENST00000328928.7_Missense_Mutation_p.D230Y|THEMIS2_ENST00000373925.1_Intron	p.D230Y	NM_001105556.1	NP_001099026.1					4	692	+								A2RTZ3|B4DZT9|B4DZY3|O60560|Q5TEJ1|Q5TEJ9|Q5TEK1|Q68DP4|Q9BYB6|Q9NS90	Missense_Mutation	SNP	ENST00000373921.3	37	c.688G>T	CCDS41290.1	.	.	.	.	.	.	.	.	.	.	G	25.2	4.618660	0.87460	.	.	ENSG00000130775	ENST00000328928;ENST00000442118;ENST00000373921	T;T;T	0.50001	2.53;0.76;2.53	5.31	5.31	0.75309	.	0.095330	0.64402	D	0.000001	T	0.69450	0.3112	M	0.69823	2.125	0.58432	D	0.999997	D;D	0.89917	1.0;1.0	D;D	0.78314	0.984;0.991	T	0.72235	-0.4352	10	0.87932	D	0	-17.3483	18.954	0.92650	0.0:0.0:1.0:0.0	.	230;230	Q5TEJ8-5;Q5TEJ8	.;THMS2_HUMAN	Y	230;93;230	ENSP00000329862:D230Y;ENSP00000413725:D93Y;ENSP00000363031:D230Y	ENSP00000329862:D230Y	D	+	1	0	C1orf38	28081110	1.000000	0.71417	0.581000	0.28614	0.927000	0.56198	9.202000	0.95026	2.654000	0.90174	0.561000	0.74099	GAC		0.642	THEMIS2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011148.1	NM_004848		25	66	1	0	9.39395e-14	1	1.03742e-13	25	66					T	28208523	G	T	28208523	3	4	67	1	0	0	0	0	1	0	0	0	2039	1058	37	5	702	5	C1orf38	1	28208523	Missense_Mutation	SNP	G	TCGA-EJ-5519-01A-01D-1576-08		28208523	221042098	1	3385											
INADL	10207	broad.mit.edu	37	chr1	62456031	62456031	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgcgtattggagatgaactcTtagaggtgagaagcatgtgt	11	12	14	4	1	1	4	0	2	1	3	1	6	1	4	0	2	3	2	0	2	4	3			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr1:62456031T>G	ENST00000371158.2	+	28	3976	c.3862T>G	c.(3862-3864)Tta>Gta	p.L1288V	INADL_ENST00000545929.1_5'UTR|INADL_ENST00000316485.6_Missense_Mutation_p.L1288V|INADL_ENST00000543708.1_Missense_Mutation_p.L72V	NM_176877.2	NP_795352	Q8NI35	INADL_HUMAN	InaD-like (Drosophila)	1288	PDZ 7. {ECO:0000255|PROSITE- ProRule:PRU00143}.				cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|intracellular signal transduction (GO:0035556)|tight junction assembly (GO:0070830)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|tight junction (GO:0005923)		p.L1288V(1)		breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)	103						AGATGAACTCTTAGAGGTGAG	0.443																																						ENST00000371158.2																			1	Substitution - Missense(1)	p.L1288V(1)	prostate(1)	breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)	103						c.(3862-3864)Tta>Gta		InaD-like (Drosophila)							67	65	65					1																	62456031		2203	4300	6503	SO:0001583	missense	10207				intracellular signal transduction|tight junction assembly	apical plasma membrane|perinuclear region of cytoplasm|tight junction	protein binding	g.chr1:62456031T>G	AB044807	CCDS617.2	1p31	2008-02-05			ENSG00000132849	ENSG00000132849			28881	protein-coding gene	gene with protein product		603199				9280290, 11374908	Standard	NM_176877		Approved	Cipp, PATJ	uc001dab.3	Q8NI35	OTTHUMG00000008560	ENST00000371158.2:c.3862T>G	1.37:g.62456031T>G	ENSP00000360200:p.Leu1288Val					INADL_ENST00000316485.6_Missense_Mutation_p.L1288V|INADL_ENST00000543708.1_Missense_Mutation_p.L72V|INADL_ENST00000545929.1_5'UTR	p.L1288V	NM_176877.2	NP_795352.2	Q8NI35	INADL_HUMAN			28	3976	+			1288			PDZ 7.		O15249|O43742|O60833|Q5VUA5|Q5VUA6|Q5VUA7|Q5VUA8|Q5VUA9|Q5VUB0|Q8WU78|Q9H3N9	Missense_Mutation	SNP	ENST00000371158.2	37	c.3862T>G	CCDS617.2	.	.	.	.	.	.	.	.	.	.	T	14.02	2.409450	0.42715	.	.	ENSG00000132849	ENST00000371158;ENST00000316485;ENST00000371156;ENST00000395513;ENST00000307297;ENST00000543708	T;T;T;T	0.34275	1.37;1.37;1.37;1.37	5.73	0.944	0.19537	PDZ/DHR/GLGF (4);	0.217060	0.29260	N	0.012669	T	0.37019	0.0988	L	0.52823	1.66	0.80722	D	1	B;B;B;B;B	0.25235	0.121;0.022;0.01;0.007;0.009	B;B;B;B;B	0.40375	0.327;0.091;0.091;0.104;0.053	T	0.21793	-1.0235	10	0.56958	D	0.05	.	5.8511	0.18694	0.0:0.2811:0.1346:0.5843	.	72;747;1288;1288;1288	B4DE90;Q8NI35-5;F8W8T2;Q8NI35;Q8NI35-4	.;.;.;INADL_HUMAN;.	V	1288;1288;1288;1288;72;72	ENSP00000360200:L1288V;ENSP00000326199:L1288V;ENSP00000307496:L72V;ENSP00000445790:L72V	ENSP00000307496:L72V	L	+	1	2	INADL	62228619	0.989000	0.36119	0.943000	0.38184	0.612000	0.37316	1.256000	0.32921	0.121000	0.18284	0.533000	0.62120	TTA		0.443	INADL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023639.2	NM_170605		8	54	0	0	0	1	0	8	54					G	62456031	T	G	62456031	3	3	67	1	0	0	0	0	1	0	0	0	7731	1606	56	5	3968	5	INADL	1	62456031	Missense_Mutation	SNP	T	TCGA-EJ-5519-01A-01D-1576-08	34247508	62456031	186794590	2	3386											
ZZZ3	26009	broad.mit.edu	37	chr1	78098722	78098723	+	Frame_Shift_Del	DEL	TC	TC	-																															gaaacaggttctgtttgcctTctctcacaattttctatagc																										TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr1:78098722_78098723delTC	ENST00000370801.3	-	5	792_793	c.317_318delGA	c.(316-318)agafs	p.R107fs	ZZZ3_ENST00000476275.1_5'Flank|ZZZ3_ENST00000370798.1_Intron	NM_015534.4	NP_056349.1	Q8IYH5	ZZZ3_HUMAN	zinc finger, ZZ-type containing 3	107					chromatin organization (GO:0006325)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|stomach(1)|urinary_tract(2)	39						CTGTTTGCCTTCTCTCACAATT	0.391																																						ENST00000370801.3																			0				breast(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|stomach(1)|urinary_tract(2)	39						c.(316-318)afs		zinc finger, ZZ-type containing 3																																				SO:0001589	frameshift_variant	26009				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:78098722_78098723delTC	AL080063	CCDS677.1	1p31.1	2012-08-13			ENSG00000036549	ENSG00000036549		"Zinc fingers, ZZ-type"	24523	protein-coding gene	gene with protein product	"ATAC component 1 homolog (Drosophila)"					16428443, 21304275	Standard	NM_015534		Approved	DKFZP564I052, ATAC1	uc001dhq.3	Q8IYH5	OTTHUMG00000009652	ENST00000370801.3:c.317_318delGA	1.37:g.78098726_78098727delTC	ENSP00000359837:p.Arg107fs					ZZZ3_ENST00000370798.1_Intron	p.R107fs	NM_015534.4	NP_056349.1	Q8IYH5	ZZZ3_HUMAN			5	792_793	-			107					B7WPC6|Q6N004|Q6N070|Q8IYP0|Q8IYR1|Q8TEK4|Q9Y4U0	Frame_Shift_Del	DEL	ENST00000370801.3	37	c.317_318delGA	CCDS677.1																																																																																				0.391	ZZZ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026615.1	NM_015534		117	268						117	268	---	---	---	---	-	78098723	TC	-	78098722	7	5	67	1	0	1	0	1	0	0	0	0	18253	1780	62	0	2437	0	ZZZ3	1	78098722	Frame_Shift_Del	DEL	TC	TCGA-EJ-5519-01A-01D-1576-08	15642691	78098722	171151899	3	3387											
MCOLN3	55283	broad.mit.edu	37	chr1	85510885	85510885	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggttttctacctcgagcccaGaacttctcacagggattcat	9	12	8	12	1	3	1	2	0	2	1	5	3	3	2	2	2	3	1	2	2	2	5			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr1:85510885G>A	ENST00000370589.2	-	2	211	c.159C>T	c.(157-159)ttC>ttT	p.F53F	MCOLN3_ENST00000370587.1_Silent_p.F53F|WDR63_ENST00000370596.1_Intron|MCOLN3_ENST00000341115.4_Silent_p.F53F	NM_018298.10	NP_060768.8	Q8TDD5	MCLN3_HUMAN	mucolipin 3	53					auditory receptor cell differentiation (GO:0042491)|calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|locomotory behavior (GO:0007626)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.F53F(1)		endometrium(6)|kidney(3)|large_intestine(9)|lung(12)|prostate(3)|skin(1)	34				all cancers(265;0.00957)|Epithelial(280;0.0254)		CTCGAGCCCAGAACTTCTCAC	0.393																																						ENST00000370587.1																			1	Substitution - coding silent(1)	p.F53F(1)	prostate(1)	endometrium(6)|kidney(3)|large_intestine(9)|lung(12)|prostate(3)|skin(1)	34						c.(157-159)ttC>ttT		mucolipin 3							93	93	93					1																	85510885		2202	4300	6502	SO:0001819	synonymous_variant	55283					integral to membrane	ion channel activity	g.chr1:85510885G>A	AF475085	CCDS701.1, CCDS58009.1	1p22.3	2011-12-16			ENSG00000055732	ENSG00000055732		"Voltage-gated ion channels / Transient receptor potential cation channels"	13358	protein-coding gene	gene with protein product		607400				16382100	Standard	NM_018298		Approved	TRPML3, FLJ11006, TRP-ML3	uc001dkp.3	Q8TDD5	OTTHUMG00000009955	ENST00000370589.2:c.159C>T	1.37:g.85510885G>A						WDR63_ENST00000370596.1_Intron|MCOLN3_ENST00000370589.2_Silent_p.F53F|MCOLN3_ENST00000341115.4_Silent_p.F53F	p.F53F			Q8TDD5	MCLN3_HUMAN		all cancers(265;0.00957)|Epithelial(280;0.0254)	3	535	-			53					Q5T4H5|Q5T4H6|Q9NV09	Silent	SNP	ENST00000370589.2	37	c.159C>T	CCDS701.1																																																																																				0.393	MCOLN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027569.2	NM_018298		7	140	0	0	0	1	0	7	140					A	85510885	G	A	85510885	2	1	67	1	0	0	0	0	0	0	0	1	9397	933	33	3		3	MCOLN3	1	85510885	Silent	SNP	G	TCGA-EJ-5519-01A-01D-1576-08	7412163	85510885	163739736	4	3388											
KCND3	3752	broad.mit.edu	37	chr1	112318709	112318709	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	tccagtggttttacaaggcgGagaccttgacaacattgctg	10	11	11	9	1	0	2	0	1	0	1	1	3	1	2	2	3	3	2	2	3	3	4			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr1:112318709G>C	ENST00000315987.2	-	8	2437	c.1958C>G	c.(1957-1959)tCc>tGc	p.S653C	KCND3_ENST00000369697.1_Missense_Mutation_p.S634C|KCND3_ENST00000302127.4_Missense_Mutation_p.S634C	NM_004980.4	NP_004971.2	Q9UK17	KCND3_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 3	653					cell death (GO:0008219)|membrane repolarization (GO:0086009)|potassium ion export (GO:0071435)|potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|neuronal cell body (GO:0043025)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	A-type (transient outward) potassium channel activity (GO:0005250)|ion channel binding (GO:0044325)|metal ion binding (GO:0046872)	p.S634C(1)		NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	49		all_cancers(81;8.52e-06)|all_epithelial(167;5.65e-06)|all_lung(203;2.72e-05)|Lung NSC(69;4.56e-05)		all cancers(265;0.056)|Lung(183;0.0576)|Colorectal(144;0.1)|Epithelial(280;0.104)|COAD - Colon adenocarcinoma(174;0.222)|LUSC - Lung squamous cell carcinoma(189;0.231)	Amitriptyline(DB00321)|Dalfampridine(DB06637)|Disopyramide(DB00280)|Imipramine(DB00458)	TTACAAGGCGGAGACCTTGAC	0.612																																						ENST00000369697.1																			1	Substitution - Missense(1)	p.S634C(1)	prostate(1)	NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	49						c.(1900-1902)tCc>tGc		potassium voltage-gated channel, Shal-related subfamily, member 3							89	81	84					1																	112318709		2203	4300	6503	SO:0001583	missense	3752					sarcolemma|voltage-gated potassium channel complex	A-type (transient outward) potassium channel activity|metal ion binding	g.chr1:112318709G>C	AF048713	CCDS843.1, CCDS844.1	1p13.2	2014-09-17			ENSG00000171385	ENSG00000171385		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6239	protein-coding gene	gene with protein product		605411	"spinocerebellar ataxia 22", "spinocerebellar ataxia 19"	SCA22, SCA19		10942109, 16382104, 23280837	Standard	NM_172198		Approved	Kv4.3, KSHIVB	uc001ebu.1	Q9UK17	OTTHUMG00000011989	ENST00000315987.2:c.1958C>G	1.37:g.112318709G>C	ENSP00000319591:p.Ser653Cys					KCND3_ENST00000302127.4_Missense_Mutation_p.S634C|KCND3_ENST00000315987.2_Missense_Mutation_p.S653C	p.S634C			Q9UK17	KCND3_HUMAN		all cancers(265;0.056)|Lung(183;0.0576)|Colorectal(144;0.1)|Epithelial(280;0.104)|COAD - Colon adenocarcinoma(174;0.222)|LUSC - Lung squamous cell carcinoma(189;0.231)	6	1970	-		all_cancers(81;8.52e-06)|all_epithelial(167;5.65e-06)|all_lung(203;2.72e-05)|Lung NSC(69;4.56e-05)	653					O60576|O60577|Q14D71|Q5T0M0|Q9UH85|Q9UH86|Q9UK16	Missense_Mutation	SNP	ENST00000315987.2	37	c.1901C>G	CCDS843.1	.	.	.	.	.	.	.	.	.	.	G	24.1	4.496916	0.85069	.	.	ENSG00000171385	ENST00000369697;ENST00000315987;ENST00000302127	D;D;D	0.97772	-4.53;-4.38;-4.53	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	D	0.98143	0.9387	L	0.49126	1.545	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.87578	0.998;0.984	D	0.99709	1.1006	10	0.87932	D	0	.	19.2561	0.93947	0.0:0.0:1.0:0.0	.	634;653	Q14D71;Q9UK17	.;KCND3_HUMAN	C	634;653;634	ENSP00000358711:S634C;ENSP00000319591:S653C;ENSP00000306923:S634C	ENSP00000306923:S634C	S	-	2	0	KCND3	112120232	1.000000	0.71417	0.992000	0.48379	0.997000	0.91878	9.415000	0.97375	2.645000	0.89757	0.655000	0.94253	TCC		0.612	KCND3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000033144.1	NM_172198		29	82	0	0	0	1	0	29	82					C	112318709	G	C	112318709	3	2	67	1	0	0	0	0	1	0	0	0	8020	1174	41	5	13	5	KCND3	1	112318709	Missense_Mutation	SNP	G	TCGA-EJ-5519-01A-01D-1576-08	26807824	112318709	136931912	5	3389											
NOTCH2	4853	broad.mit.edu	37	chr1	120479922	120479922	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cacctcgcatctgtatccacCaatgaagtcactgcatgttg	10	11	7	13	1	2	1	1	1	1	0	4	1	3	1	3	0	1	4	3	0	3	2			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr1:120479922C>T	ENST00000256646.2	-	21	3724	c.3505G>A	c.(3505-3507)Ggt>Agt	p.G1169S		NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2	1169	EGF-like 30; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				apoptotic process (GO:0006915)|atrial septum morphogenesis (GO:0060413)|bone remodeling (GO:0046849)|cell cycle arrest (GO:0007050)|cell fate determination (GO:0001709)|cell growth (GO:0016049)|ciliary body morphogenesis (GO:0061073)|determination of left/right symmetry (GO:0007368)|embryonic limb morphogenesis (GO:0030326)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|humoral immune response (GO:0006959)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|intracellular receptor signaling pathway (GO:0030522)|morphogenesis of an epithelial sheet (GO:0002011)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|placenta blood vessel development (GO:0060674)|positive regulation of apoptotic process (GO:0043065)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation (GO:0008284)|positive regulation of Ras protein signal transduction (GO:0046579)|pulmonary valve morphogenesis (GO:0003184)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell surface (GO:0009986)|cilium (GO:0005929)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|ligand-activated RNA polymerase II transcription factor binding transcription factor activity (GO:0038049)|receptor activity (GO:0004872)			breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		CTGTATCCACCAATGAAGTCA	0.527			"N, F, Mis"		"marginal zone lymphoma, DLBCL"				Alagille Syndrome																													ENST00000256646.2				Dom	yes		1	1p13-p11	4853	"N, F, Mis"	Notch homolog 2			L			"marginal zone lymphoma, DLBCL"		0				breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158						c.(3505-3507)Ggt>Agt		notch 2							143	118	127					1																	120479922		2203	4300	6503	SO:0001583	missense	4853	Alagille Syndrome	Familial Cancer Database	ALGS1, ALGS2.Alagille-Watson syndrome	anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity	g.chr1:120479922C>T	AF315356	CCDS908.1	1p13-p11	2013-01-10	2010-06-24		ENSG00000134250	ENSG00000134250		"Ankyrin repeat domain containing"	7882	protein-coding gene	gene with protein product		600275	"Notch (Drosophila) homolog 2", "Notch homolog 2 (Drosophila)"			7698746	Standard	NM_001200001		Approved		uc001eik.3	Q04721	OTTHUMG00000012177	ENST00000256646.2:c.3505G>A	1.37:g.120479922C>T	ENSP00000256646:p.Gly1169Ser						p.G1169S	NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)	21	3724	-	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)	1169			EGF-like 30; calcium-binding (Potential).		Q5T3X7|Q99734|Q9H240	Missense_Mutation	SNP	ENST00000256646.2	37	c.3505G>A	CCDS908.1	.	.	.	.	.	.	.	.	.	.	C	35	5.492005	0.96339	.	.	ENSG00000134250	ENST00000256646	D	0.91686	-2.89	5.15	5.15	0.70609	EGF-like calcium-binding, conserved site (1);EGF (1);EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.38164	U	0.001800	D	0.94732	0.8300	M	0.63169	1.94	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.94429	0.7648	10	0.52906	T	0.07	.	17.9589	0.89078	0.0:1.0:0.0:0.0	.	1169;1169	Q6IQ50;Q04721	.;NOTC2_HUMAN	S	1169	ENSP00000256646:G1169S	ENSP00000256646:G1169S	G	-	1	0	NOTCH2	120281445	1.000000	0.71417	0.996000	0.52242	0.998000	0.95712	5.416000	0.66417	2.549000	0.85964	0.655000	0.94253	GGT		0.527	NOTCH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033679.1	NM_024408		18	148	0	0	0	1	0	18	148					T	120479922	C	T	120479922	3	4	67	1	0	0	0	0	1	0	0	0	10548	594	21	3	3966	3	NOTCH2	1	120479922	Missense_Mutation	SNP	C	TCGA-EJ-5519-01A-01D-1576-08	8161213	120479922	128770699	6	3390											
PIAS3	10401	broad.mit.edu	37	chr1	145580242	145580242	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaagaggcccagccgccccAtcaacatcacacccctggct	10	4	7	20	1	2	1	2	0	0	1	2	1	2	1	7	2	2	1	7	2	2	0			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr1:145580242A>G	ENST00000393045.2	+	6	814	c.724A>G	c.(724-726)Atc>Gtc	p.I242V	PIAS3_ENST00000369298.1_Missense_Mutation_p.I207V|PIAS3_ENST00000369299.3_Missense_Mutation_p.I233V	NM_006099.3	NP_006090.2	Q9Y6X2	PIAS3_HUMAN	protein inhibitor of activated STAT, 3	242	PINIT. {ECO:0000255|PROSITE- ProRule:PRU00799}.				positive regulation of gene expression (GO:0010628)|positive regulation of membrane potential (GO:0045838)|positive regulation of protein sumoylation (GO:0033235)|protein sumoylation (GO:0016925)|regulation of transcription, DNA-templated (GO:0006355)|response to hormone (GO:0009725)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|nucleus (GO:0005634)|synapse (GO:0045202)	enzyme binding (GO:0019899)|nucleic acid binding (GO:0003676)|potassium channel regulator activity (GO:0015459)|protein C-terminus binding (GO:0008022)|SUMO ligase activity (GO:0019789)|zinc ion binding (GO:0008270)	p.I242V(2)|p.I233V(1)		cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)	28	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					CAGCCGCCCCATCAACATCAC	0.587																																						ENST00000393045.2																			3	Substitution - Missense(3)	p.I242V(2)|p.I233V(1)	prostate(3)	cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)	28						c.(724-726)Atc>Gtc		protein inhibitor of activated STAT, 3							113	114	114					1																	145580242		2203	4300	6503	SO:0001583	missense	10401				positive regulation of protein sumoylation|protein sumoylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck	enzyme binding|nucleic acid binding|protein C-terminus binding|zinc ion binding	g.chr1:145580242A>G	AB021868	CCDS72866.1	1q21	2011-10-11			ENSG00000131788	ENSG00000131788		"Zinc fingers, MIZ-type"	16861	protein-coding gene	gene with protein product	"zinc finger, MIZ-type containing 5"	605987				10319586	Standard	NM_006099		Approved	FLJ14651, ZMIZ5	uc001eoc.1	Q9Y6X2	OTTHUMG00000013750	ENST00000393045.2:c.724A>G	1.37:g.145580242A>G	ENSP00000376765:p.Ile242Val					PIAS3_ENST00000369299.3_Missense_Mutation_p.I233V|PIAS3_ENST00000369298.1_Missense_Mutation_p.I207V	p.I242V	NM_006099.3	NP_006090.2	Q9Y6X2	PIAS3_HUMAN			6	814	+	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		242			PINIT.		Q9UFI3	Missense_Mutation	SNP	ENST00000393045.2	37	c.724A>G	CCDS920.2	.	.	.	.	.	.	.	.	.	.	A	16.84	3.233705	0.58886	.	.	ENSG00000131788	ENST00000393046;ENST00000369299;ENST00000393045;ENST00000369298	T;T;T;T	0.37915	1.17;1.17;1.17;1.17	5.08	5.08	0.68730	PINIT domain (1);	0.000000	0.64402	D	0.000006	T	0.20333	0.0489	N	0.16368	0.405	0.46749	D	0.999187	P;P	0.52842	0.924;0.956	P;P	0.55161	0.77;0.728	T	0.03739	-1.1008	10	0.14656	T	0.56	-17.6562	12.8399	0.57794	1.0:0.0:0.0:0.0	.	233;242	F8WA94;Q9Y6X2	.;PIAS3_HUMAN	V	233;233;242;207	ENSP00000376766:I233V;ENSP00000358305:I233V;ENSP00000376765:I242V;ENSP00000358304:I207V	ENSP00000358304:I207V	I	+	1	0	PIAS3	144291599	0.997000	0.39634	1.000000	0.80357	0.998000	0.95712	3.627000	0.54252	2.144000	0.66660	0.459000	0.35465	ATC		0.587	PIAS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038533.4	NM_006099		14	205	0	0	0	1	0	14	205					G	145580242	A	G	145580242	3	3	67	1	0	0	0	0	1	0	0	0	11877	217	8	4	746	4	PIAS3	1	145580242	Missense_Mutation	SNP	A	TCGA-EJ-5519-01A-01D-1576-08	25100320	145580242	103670379	7	3391											
FLG	2312	broad.mit.edu	37	chr1	152275293	152275293	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttgcataataccttggatgAtctttaccaaacgcacttgc	11	13	7	10	1	1	1	0	1	1	0	1	2	1	2	2	1	5	3	2	1	4	7			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr1:152275293A>G	ENST00000368799.1	-	3	12104	c.12069T>C	c.(12067-12069)gaT>gaC	p.D4023D	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	4023					establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)	p.D4023D(1)		autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ACCTTGGATGATCTTTACCAA	0.383									Ichthyosis																													ENST00000368799.1																			1	Substitution - coding silent(1)	p.D4023D(1)	prostate(1)	autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424						c.(12067-12069)gaT>gaC		filaggrin							146	139	141					1																	152275293		2203	4300	6503	SO:0001819	synonymous_variant	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152275293A>G	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"EF-hand domain containing"	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.12069T>C	1.37:g.152275293A>G						FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	p.D4023D	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	12104	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		4023					Q01720|Q5T583|Q9UC71	Silent	SNP	ENST00000368799.1	37	c.12069T>C	CCDS30860.1																																																																																				0.383	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		68	192	0	0	0	1	0	68	192					G	152275293	A	G	152275293	2	3	67	1	0	0	0	0	0	0	0	1	5922	330	12	4		4	FLG	1	152275293	Silent	SNP	A	TCGA-EJ-5519-01A-01D-1576-08	6695051	152275293	96975328	8	3392											
KIRREL	55243	broad.mit.edu	37	chr1	158057827	158057827	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggggtttcttgattgaagacGcccacgagagtcgctatgag	9	10	14	8	3	1	5	0	3	1	2	2	6	1	5	1	2	0	2	1	2	2	4	rs574166380		TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr1:158057827G>A	ENST00000359209.6	+	7	866	c.799G>A	c.(799-801)Gcc>Acc	p.A267T	KIRREL_ENST00000360089.4_Missense_Mutation_p.A103T|KIRREL_ENST00000368172.1_Missense_Mutation_p.A65T|KIRREL_ENST00000368173.3_Missense_Mutation_p.A267T|KIRREL_ENST00000392272.2_Missense_Mutation_p.A164T|KIRREL_ENST00000416935.2_Missense_Mutation_p.A167T			Q96J84	KIRR1_HUMAN	kin of IRRE like (Drosophila)	267	Ig-like C2-type 3.				excretion (GO:0007588)|negative regulation of protein phosphorylation (GO:0001933)|positive regulation of actin filament polymerization (GO:0030838)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|dendritic shaft (GO:0043198)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	myosin binding (GO:0017022)	p.A103T(1)|p.A267T(1)		NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(5)|skin(3)|stomach(1)	38	all_hematologic(112;0.0378)					GATTGAAGACGCCCACGAGAG	0.522											OREG0013906	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G|||	1	0.000199681	8e-04	0	5008	,	,		19143	0		0	False		,,,				2504	0					ENST00000368172.1																			2	Substitution - Missense(2)	p.A103T(1)|p.A267T(1)	prostate(2)	NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(5)|skin(3)|stomach(1)	38						c.(193-195)Gcc>Acc		kin of IRRE like (Drosophila)							94	101	99					1																	158057827		2203	4300	6503	SO:0001583	missense	55243					integral to membrane		g.chr1:158057827G>A	AK001707	CCDS1172.2, CCDS72952.1	1q21-q25	2013-01-29			ENSG00000183853	ENSG00000183853		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	15734	protein-coding gene	gene with protein product	"nephrin-like protein 1"	607428				12424224	Standard	NM_001286349		Approved	NEPH1	uc001frn.4	Q96J84	OTTHUMG00000022438	ENST00000359209.6:c.799G>A	1.37:g.158057827G>A	ENSP00000352138:p.Ala267Thr		OREG0013906	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1790	KIRREL_ENST00000416935.2_Missense_Mutation_p.A167T|KIRREL_ENST00000359209.6_Missense_Mutation_p.A267T|KIRREL_ENST00000360089.4_Missense_Mutation_p.A103T|KIRREL_ENST00000368173.3_Missense_Mutation_p.A267T|KIRREL_ENST00000392272.2_Missense_Mutation_p.A164T	p.A65T			Q96J84	KIRR1_HUMAN			3	205	+	all_hematologic(112;0.0378)		267			Ig-like C2-type 1.		Q5W0F8|Q5XKC6|Q7Z696|Q7Z7N8|Q8TB15|Q9H9N1|Q9NVA5	Missense_Mutation	SNP	ENST00000359209.6	37	c.193G>A	CCDS1172.2	.	.	.	.	.	.	.	.	.	.	G	35	5.421085	0.96111	.	.	ENSG00000183853	ENST00000360089;ENST00000368173;ENST00000392272;ENST00000359209;ENST00000416935;ENST00000368172	T;T;T;T;T;T	0.10573	2.86;2.86;2.86;2.86;2.86;2.86	5.44	5.44	0.79542	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.42964	D	0.000626	T	0.28962	0.0719	M	0.83384	2.64	0.80722	D	1	D;D;D;D	0.89917	0.998;1.0;1.0;1.0	D;D;D;D	0.97110	0.966;1.0;0.999;0.999	T	0.02345	-1.1173	10	0.48119	T	0.1	-39.5553	16.7618	0.85514	0.0:0.0:1.0:0.0	.	167;103;65;267	B4DN67;Q5W0F9;Q5W0G0;Q96J84	.;.;.;KIRR1_HUMAN	T	103;267;164;267;167;65	ENSP00000353202:A103T;ENSP00000357155:A267T;ENSP00000376098:A164T;ENSP00000352138:A267T;ENSP00000389674:A167T;ENSP00000357154:A65T	ENSP00000352138:A267T	A	+	1	0	KIRREL	156324451	1.000000	0.71417	0.998000	0.56505	0.991000	0.79684	9.476000	0.97823	2.557000	0.86248	0.557000	0.71058	GCC		0.522	KIRREL-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058342.3	NM_018240		14	276	0	0	0	1	0	14	276					A	158057827	G	A	158057827	3	1	67	1	0	0	0	0	1	0	0	0	8324	1087	38	1	825	1	KIRREL	1	158057827	Missense_Mutation	SNP	G	TCGA-EJ-5519-01A-01D-1576-08	5782534	158057827	91192794	9	3393											
IFI16	3428	broad.mit.edu	37	chr1	159021757	159021757	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atcctttcacacttgtggctGatgtgaatgctgaccgaaac	10	12	9	10	1	1	3	1	3	0	0	2	4	2	3	2	1	2	2	2	1	2	2			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr1:159021757G>A	ENST00000295809.7	+	10	2209	c.1954G>A	c.(1954-1956)Gat>Aat	p.D652N	IFI16_ENST00000359709.3_Missense_Mutation_p.D596N|IFI16_ENST00000340979.6_Missense_Mutation_p.D540N|IFI16_ENST00000368132.3_Missense_Mutation_p.D596N|IFI16_ENST00000430894.2_Missense_Mutation_p.D600N|IFI16_ENST00000448393.2_Missense_Mutation_p.D540N|IFI16_ENST00000368131.4_Missense_Mutation_p.D596N			Q16666	IF16_HUMAN	interferon, gamma-inducible protein 16	652	HIN-200 2. {ECO:0000255|PROSITE- ProRule:PRU00106}.|Interaction with TP53 core domain.				activation of cysteine-type endopeptidase activity (GO:0097202)|activation of innate immune response (GO:0002218)|autophagy (GO:0006914)|cell proliferation (GO:0008283)|cellular response to glucose starvation (GO:0042149)|cellular response to ionizing radiation (GO:0071479)|defense response to virus (GO:0051607)|hemopoiesis (GO:0030097)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|monocyte differentiation (GO:0030224)|myeloid cell differentiation (GO:0030099)|negative regulation of cysteine-type endopeptidase activity (GO:2000117)|negative regulation of DNA binding (GO:0043392)|negative regulation of innate immune response (GO:0045824)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of viral genome replication (GO:0045071)|positive regulation of cytokine production (GO:0001819)|positive regulation of interleukin-1 beta production (GO:0032731)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of autophagy (GO:0010506)|regulation of gene expression, epigenetic (GO:0040029)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	core promoter binding (GO:0001047)|double-stranded DNA binding (GO:0003690)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|transcription factor binding (GO:0008134)	p.D596N(1)		cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_hematologic(112;0.0429)					ACTTGTGGCTGATGTGAATGC	0.428																																						ENST00000295809.7																			1	Substitution - Missense(1)	p.D596N(1)	prostate(1)	cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(1954-1956)Gat>Aat		interferon, gamma-inducible protein 16							89	89	89					1																	159021757		2203	4300	6503	SO:0001583	missense	3428				cell proliferation|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|monocyte differentiation|negative regulation of transcription, DNA-dependent|response to virus|transcription, DNA-dependent	cytoplasm|nuclear speck|nucleolus	double-stranded DNA binding|protein binding	g.chr1:159021757G>A	M63838	CCDS1180.3, CCDS58039.1	1q22	2008-02-05			ENSG00000163565	ENSG00000163565			5395	protein-coding gene	gene with protein product		147586				1526658, 7959953	Standard	NM_005531		Approved	IFNGIP1, PYHIN2	uc010pis.2	Q16666	OTTHUMG00000037108	ENST00000295809.7:c.1954G>A	1.37:g.159021757G>A	ENSP00000295809:p.Asp652Asn					IFI16_ENST00000430894.2_Missense_Mutation_p.D600N|IFI16_ENST00000448393.2_Missense_Mutation_p.D540N|IFI16_ENST00000368132.3_Missense_Mutation_p.D596N|IFI16_ENST00000368131.4_Missense_Mutation_p.D596N|IFI16_ENST00000359709.3_Missense_Mutation_p.D596N|IFI16_ENST00000340979.6_Missense_Mutation_p.D540N	p.D652N			Q16666	IF16_HUMAN			10	2209	+	all_hematologic(112;0.0429)		652			HIN-200 2.		B4DJT8|H3BLV7|Q59GX0|Q5T3W7|Q5T3W8|Q5T3X0|Q5T3X1|Q5T3X2|Q8N9E5|Q8NEQ7|Q96AJ5|Q9UH78	Missense_Mutation	SNP	ENST00000295809.7	37	c.1954G>A		.	.	.	.	.	.	.	.	.	.	G	14.69	2.609242	0.46527	.	.	ENSG00000163565	ENST00000359709;ENST00000295809;ENST00000340979;ENST00000368131;ENST00000368132;ENST00000430894	T;T;T;T;T	0.16196	2.36;2.36;2.36;2.36;2.36	4.85	1.67	0.24075	.	.	.	.	.	T	0.07234	0.0183	M	0.61703	1.905	0.09310	N	1	B;P;B	0.36249	0.091;0.545;0.16	B;B;B	0.33799	0.17;0.147;0.153	T	0.16837	-1.0389	9	0.72032	D	0.01	.	8.6721	0.34156	0.0:0.1977:0.6479:0.1544	.	600;540;596	E7EPR3;Q16666-3;Q16666-2	.;.;.	N	281;652;540;596;596;600	ENSP00000295809:D652N;ENSP00000342741:D540N;ENSP00000357113:D596N;ENSP00000357114:D596N;ENSP00000394935:D600N	ENSP00000295809:D652N	D	+	1	0	IFI16	157288381	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-0.505000	0.06367	0.135000	0.18707	0.609000	0.83330	GAT		0.428	IFI16-013	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000421720.1	NM_005531		7	180	0	0	0	1	0	7	180					A	159021757	G	A	159021757	3	1	67	1	0	0	0	0	1	0	0	0	7511	1290	45	3	1816	3	IFI16	1	159021757	Missense_Mutation	SNP	G	TCGA-EJ-5519-01A-01D-1576-08	963930	159021757	90228864	10	3394											
LY9	4063	broad.mit.edu	37	chr1	160783454	160783454	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	caggagccccaagtcaccatGaagtctgtgaaggtgtctga	11	8	12	10	0	3	3	1	3	2	0	3	4	3	4	3	2	1	0	3	2	3	0			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr1:160783454G>C	ENST00000263285.6	+	3	513	c.483G>C	c.(481-483)atG>atC	p.M161I	LY9_ENST00000392203.4_Missense_Mutation_p.M161I|LY9_ENST00000368037.5_Missense_Mutation_p.M161I|LY9_ENST00000368041.2_Missense_Mutation_p.M121I|LY9_ENST00000471816.1_3'UTR|LY9_ENST00000341032.4_Missense_Mutation_p.M161I|LY9_ENST00000368040.1_5'UTR			Q9HBG7	LY9_HUMAN	lymphocyte antigen 9	161	Ig-like C2-type 1.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)	receptor activity (GO:0004872)	p.M161I(1)		autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			AAGTCACCATGAAGTCTGTGA	0.532																																						ENST00000263285.5																			1	Substitution - Missense(1)	p.M161I(1)	prostate(1)	autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36						c.(481-483)atG>atC		lymphocyte antigen 9							92	90	90					1																	160783454		2203	4300	6503	SO:0001583	missense	4063				cell adhesion|immunoglobulin mediated immune response	integral to membrane		g.chr1:160783454G>C	L42621	CCDS30916.1, CCDS30917.1, CCDS65695.1, CCDS65696.1	1q23.3	2013-01-11			ENSG00000122224	ENSG00000122224		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6730	protein-coding gene	gene with protein product		600684				8537117, 7797269	Standard	NM_001261457		Approved	CD229, mLY9, SLAMF3, hly9	uc001fwu.4	Q9HBG7	OTTHUMG00000024007	ENST00000263285.6:c.483G>C	1.37:g.160783454G>C	ENSP00000263285:p.Met161Ile					LY9_ENST00000471816.1_3'UTR|LY9_ENST00000368040.1_5'UTR|LY9_ENST00000341032.4_Missense_Mutation_p.M161I|LY9_ENST00000368041.2_Missense_Mutation_p.M121I	p.M161I	NM_001261456.1|NM_002348.3	NP_001248385.1|NP_002339.2	Q9HBG7	LY9_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00737)		3	513	+	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)		161			Ig-like C2-type 1.		A8K7N3|Q14775|Q5VYI3|Q6P2J4|Q9H4N5|Q9NQ24	Missense_Mutation	SNP	ENST00000263285.6	37	c.483G>C	CCDS30916.1	.	.	.	.	.	.	.	.	.	.	G	7.523	0.657054	0.14580	.	.	ENSG00000122224	ENST00000368041;ENST00000341032;ENST00000263285;ENST00000542780;ENST00000392203;ENST00000368037;ENST00000368036	T;T	0.34667	1.35;1.35	4.04	0.948	0.19561	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	1.550700	0.03621	N	0.236470	T	0.07728	0.0194	N	0.19112	0.55	0.19300	N	0.99998	B;B;B;B;B;B	0.09022	0.001;0.001;0.0;0.002;0.001;0.001	B;B;B;B;B;B	0.11329	0.002;0.002;0.001;0.006;0.002;0.002	T	0.18335	-1.0340	10	0.23891	T	0.37	0.1881	3.9709	0.09452	0.214:0.0:0.5995:0.1865	.	161;121;121;161;161;161	B4E0J5;Q5VYH7;Q5VYH9;E7EME5;Q9HBG7-2;Q9HBG7	.;.;.;.;.;LY9_HUMAN	I	161;161;161;161;121;121;63	ENSP00000342921:M161I;ENSP00000263285:M161I	ENSP00000263285:M161I	M	+	3	0	LY9	159050078	0.000000	0.05858	0.000000	0.03702	0.068000	0.16541	-0.393000	0.07305	0.070000	0.16634	0.563000	0.77884	ATG		0.532	LY9-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060457.3	NM_002348		10	114	0	0	0	1	0	10	114					C	160783454	G	C	160783454	3	2	67	1	0	0	0	0	1	0	0	0	9101	1290	45	5	625	5	LY9	1	160783454	Missense_Mutation	SNP	G	TCGA-EJ-5519-01A-01D-1576-08	1761697	160783454	88467167	11	3395											
CEP350	9857	broad.mit.edu	37	chr1	179989287	179989287	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tatggcttcaaggccattaaCttttacacctcaaccatatg	12	13	5	11	0	2	0	2	0	0	0	2	0	2	0	3	2	3	1	3	2	6	6			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr1:179989287C>G	ENST00000367607.3	+	12	2796	c.2378C>G	c.(2377-2379)aCt>aGt	p.T793S		NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN	centrosomal protein 350kDa	793					microtubule anchoring (GO:0034453)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)		p.T793S(2)		central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						AGGCCATTAACTTTTACACCT	0.378																																						ENST00000367607.3																			2	Substitution - Missense(2)	p.T793S(2)	prostate(2)	central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						c.(2377-2379)aCt>aGt		centrosomal protein 350kDa							104	106	105					1																	179989287		2203	4300	6503	SO:0001583	missense	9857					centrosome|nucleus|spindle		g.chr1:179989287C>G	AF287356	CCDS1336.1	1q25.2	2014-02-20			ENSG00000135837	ENSG00000135837			24238	protein-coding gene	gene with protein product	"centrosome associated protein 350"					16314388, 15615782	Standard	NM_014810		Approved	KIAA0480, CAP350	uc001gnt.3	Q5VT06	OTTHUMG00000035269	ENST00000367607.3:c.2378C>G	1.37:g.179989287C>G	ENSP00000356579:p.Thr793Ser						p.T793S	NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN			12	2796	+			793					O75068|Q8TDK3|Q8WY20	Missense_Mutation	SNP	ENST00000367607.3	37	c.2378C>G	CCDS1336.1	.	.	.	.	.	.	.	.	.	.	C	9.688	1.151241	0.21371	.	.	ENSG00000135837	ENST00000367607	T	0.16073	2.37	6.02	3.08	0.35506	.	0.581335	0.15335	N	0.267788	T	0.12092	0.0294	L	0.29908	0.895	0.32806	D	0.500839	B;B	0.13594	0.008;0.008	B;B	0.14578	0.011;0.006	T	0.19224	-1.0312	9	.	.	.	.	9.9112	0.41406	0.0:0.6858:0.2437:0.0705	.	793;793	E7EU22;Q5VT06	.;CE350_HUMAN	S	793	ENSP00000356579:T793S	.	T	+	2	0	CEP350	178255910	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.812000	0.38952	0.405000	0.25532	0.655000	0.94253	ACT		0.378	CEP350-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085315.2	NM_014810		63	131	0	0	0	1	0	63	131					G	179989287	C	G	179989287	3	3	67	1	0	0	0	0	1	0	0	0	3254	565	20	5	2420	5	CEP350	1	179989287	Missense_Mutation	SNP	C	TCGA-EJ-5519-01A-01D-1576-08	19205833	179989287	69261334	12	3396											
HMCN1	83872	broad.mit.edu	37	chr1	186055463	186055463	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttgacctgtgaggtctctggTtttccacctcctgacctcag	5	14	9	13	0	2	3	1	3	1	0	5	3	4	3	5	2	0	1	5	2	0	3			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr1:186055463T>G	ENST00000271588.4	+	58	9199	c.8970T>G	c.(8968-8970)ggT>ggG	p.G2990G	HMCN1_ENST00000367492.2_Silent_p.G2990G	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	2990	Ig-like C2-type 28.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)	p.G2990G(1)		NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						AGGTCTCTGGTTTTCCACCTC	0.408																																						ENST00000271588.4																			1	Substitution - coding silent(1)	p.G2990G(1)	prostate(1)	NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						c.(8968-8970)ggT>ggG		hemicentin 1							119	113	115					1																	186055463		2203	4300	6503	SO:0001819	synonymous_variant	83872				response to stimulus|visual perception	basement membrane	calcium ion binding	g.chr1:186055463T>G	AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"Fibulins", "Immunoglobulin superfamily / I-set domain containing"	19194	protein-coding gene	gene with protein product	"fibulin 6"	608548	"age-related macular degeneration 1 (senile macular degeneration)"	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.8970T>G	1.37:g.186055463T>G						HMCN1_ENST00000367492.2_Silent_p.G2990G	p.G2990G	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN			58	9199	+			2990			Ig-like C2-type 28.		A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Silent	SNP	ENST00000271588.4	37	c.8970T>G	CCDS30956.1																																																																																				0.408	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935		27	114	0	0	0	1	0	27	114					G	186055463	T	G	186055463	2	3	67	1	0	0	0	0	0	0	0	1	7220	1712	60	5		5	HMCN1	1	186055463	Silent	SNP	T	TCGA-EJ-5519-01A-01D-1576-08	6066176	186055463	63195158	13	3397											
LGTN	1939	broad.mit.edu	37	chr1	206778810	206778810	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccttcccttcaggcctgacGtgagcatctcagctgtggac	6	10	10	15	1	2	2	2	2	1	0	4	3	3	3	3	2	2	2	3	2	0	2			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr1:206778810G>A	ENST00000271764.2	-	5	681	c.473C>T	c.(472-474)aCg>aTg	p.T158M	EIF2D_ENST00000367114.3_Missense_Mutation_p.T158M	NM_006893.2	NP_008824.2	P41214	EIF2D_HUMAN	eukaryotic translation initiation factor 2D	158	PUA. {ECO:0000255|PROSITE- ProRule:PRU00161}.				formation of translation preinitiation complex (GO:0001731)|intracellular protein transport (GO:0006886)|IRES-dependent translational initiation (GO:0002192)|ribosome disassembly (GO:0032790)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	receptor activity (GO:0004872)|translation initiation factor activity (GO:0003743)	p.T158M(1)		autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	23						CAGGCCTGACGTGAGCATCTC	0.537																																						ENST00000271764.2																			1	Substitution - Missense(1)	p.T158M(1)	prostate(1)	autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	23						c.(472-474)aCg>aTg		eukaryotic translation initiation factor 2D							98	76	84					1																	206778810		2203	4300	6503	SO:0001583	missense	1939				intracellular protein transport	cytoplasm	protein binding|receptor activity|translation initiation factor activity	g.chr1:206778810G>A	BC001585	CCDS1465.1, CCDS55680.1	1q32.1	2014-05-06	2011-01-19	2011-01-19	ENSG00000143486	ENSG00000143486			6583	protein-coding gene	gene with protein product		613709				20566627	Standard	NM_001201478		Approved	LGTN	uc001heh.2	P41214	OTTHUMG00000184619	ENST00000271764.2:c.473C>T	1.37:g.206778810G>A	ENSP00000271764:p.Thr158Met					EIF2D_ENST00000367114.3_Missense_Mutation_p.T158M	p.T158M	NM_006893.2	NP_008824.2	P41214	EIF2D_HUMAN			5	681	-			158			PUA.		Q5SY40|Q8IXV3|Q96DG3|Q96TG7|Q9NR27|Q9NSN0|Q9NV18|Q9NZ21	Missense_Mutation	SNP	ENST00000271764.2	37	c.473C>T	CCDS1465.1	.	.	.	.	.	.	.	.	.	.	G	9.288	1.049872	0.19827	.	.	ENSG00000143486	ENST00000367114;ENST00000271764;ENST00000367111;ENST00000437518	T;T;T	0.42131	0.98;0.98;0.98	5.65	3.78	0.43462	Pseudouridine synthase/archaeosine transglycosylase (2);PUA-like domain (1);	0.489617	0.26646	N	0.023222	T	0.21841	0.0526	N	0.10760	0.04	0.09310	N	1	B;B	0.27882	0.005;0.192	B;B	0.19666	0.015;0.026	T	0.13980	-1.0489	10	0.46703	T	0.11	-21.1208	10.4239	0.44367	0.0729:0.135:0.7921:0.0	.	158;158	P41214-2;P41214	.;EIF2D_HUMAN	M	158;158;130;130	ENSP00000356081:T158M;ENSP00000271764:T158M;ENSP00000394685:T130M	ENSP00000271764:T158M	T	-	2	0	EIF2D	204845433	0.959000	0.32827	0.008000	0.14137	0.835000	0.47333	3.676000	0.54612	0.934000	0.37316	0.655000	0.94253	ACG		0.537	EIF2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088475.1	NM_006893		4	44	0	0	0	1	0	4	44					A	206778810	G	A	206778810	3	1	67	1	0	0	0	0	1	0	0	0	8760	1145	40	1	1325	1	LGTN	1	206778810	Missense_Mutation	SNP	G	TCGA-EJ-5519-01A-01D-1576-08	20723347	206778810	42471811	14	3398											
CR1L	1379	broad.mit.edu	37	chr1	207818635	207818635	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcccggcgctttcctgggttGcttctggcggccctggtgtt	0	14	14	13	3	1	0	0	0	1	0	3	0	3	0	3	5	1	4	3	5	0	4			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr1:207818635G>C	ENST00000508064.2	+	1	117	c.57G>C	c.(55-57)ttG>ttC	p.L19F		NM_175710.1	NP_783641.1	Q2VPA4	CR1L_HUMAN	complement component (3b/4b) receptor 1-like	19						cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)|receptor complex (GO:0043235)		p.L19F(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						TTCCTGGGTTGCTTCTGGCGG	0.667																																						ENST00000508064.2																			1	Substitution - Missense(1)	p.L19F(1)	prostate(1)	endometrium(1)|kidney(1)|large_intestine(2)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						c.(55-57)ttG>ttC		complement component (3b/4b) receptor 1-like							85	91	89					1																	207818635		2203	4300	6503	SO:0001583	missense	1379					cytoplasm|extracellular region|membrane		g.chr1:207818635G>C	AY114160	CCDS44310.1	1q32.1	2008-02-05			ENSG00000197721	ENSG00000197721		"Complement system"	2335	protein-coding gene	gene with protein product		605886				2295627	Standard	NM_175710		Approved		uc001hga.4	Q2VPA4	OTTHUMG00000036354	ENST00000508064.2:c.57G>C	1.37:g.207818635G>C	ENSP00000421736:p.Leu19Phe						p.L19F	NM_175710.1	NP_783641.1	Q2VPA4	CR1L_HUMAN			1	117	+			19					Q32MC9|Q8NEU7	Missense_Mutation	SNP	ENST00000508064.2	37	c.57G>C	CCDS44310.1	.	.	.	.	.	.	.	.	.	.	G	8.314	0.822880	0.16678	.	.	ENSG00000197721	ENST00000444269;ENST00000508064	T	0.38401	1.14	2.74	-5.49	0.02584	.	.	.	.	.	T	0.26195	0.0639	L	0.57536	1.79	0.09310	N	1	B	0.30281	0.275	B	0.28784	0.094	T	0.12811	-1.0533	9	0.17369	T	0.5	.	7.2828	0.26320	0.0:0.1771:0.5071:0.3158	.	19	Q2VPA4	CR1L_HUMAN	F	19	ENSP00000421736:L19F	ENSP00000437875:L19F	L	+	3	2	CR1L	205885258	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-3.313000	0.00516	-2.398000	0.00580	-0.693000	0.03709	TTG		0.667	CR1L-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390247.1	XM_114735		3	80	0	0	0	1	0	3	80					C	207818635	G	C	207818635	3	2	67	1	0	0	0	0	1	0	0	0	3841	1310	46	5	59	5	CR1L	1	207818635	Missense_Mutation	SNP	G	TCGA-EJ-5519-01A-01D-1576-08	1039825	207818635	41431986	15	3399											
RASGRP3	25780	broad.mit.edu	37	chr2	33745725	33745725	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caactaggatatgaaaaacaCgtcagcctcatcgacatatc	16	8	6	11	2	2	1	2	1	0	0	4	3	2	2	1	1	3	0	1	1	6	3			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr2:33745725C>T	ENST00000403687.3	+	6	1082	c.342C>T	c.(340-342)caC>caT	p.H114H	RASGRP3_ENST00000402538.3_Silent_p.H114H|RASGRP3_ENST00000407811.1_Silent_p.H114H	NM_001139488.1	NP_001132960.1	Q8IV61	GRP3_HUMAN	RAS guanyl releasing protein 3 (calcium and DAG-regulated)	114	N-terminal Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00135}.				MAPK cascade (GO:0000165)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Rap GTPase activity (GO:0032854)|Ras protein signal transduction (GO:0007265)|small GTPase mediated signal transduction (GO:0007264)	guanyl-nucleotide exchange factor complex (GO:0032045)|integral component of plasma membrane (GO:0005887)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|diacylglycerol binding (GO:0019992)|guanyl-nucleotide exchange factor activity (GO:0005085)|Rap GTPase activator activity (GO:0046582)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|signal transducer activity (GO:0004871)	p.H114H(1)		large_intestine(3)|lung(3)|ovary(2)|pancreas(1)|stomach(2)	11	all_hematologic(175;0.115)					ATGAAAAACACGTCAGCCTCA	0.448																																						ENST00000403687.3																			1	Substitution - coding silent(1)	p.H114H(1)	prostate(1)	large_intestine(3)|lung(3)|ovary(2)|pancreas(1)|stomach(2)	11						c.(340-342)caC>caT		RAS guanyl releasing protein 3 (calcium and DAG-regulated)							211	204	206					2																	33745725		1986	4157	6143	SO:0001819	synonymous_variant	25780				MAPKKK cascade|small GTPase mediated signal transduction	integral to plasma membrane|intracellular	calcium ion binding|diacylglycerol binding|guanyl-nucleotide exchange factor activity|protein binding|Rap GTPase activator activity|signal transducer activity	g.chr2:33745725C>T	AB020653	CCDS46256.1, CCDS54346.1	2p25.1-p24.1	2013-01-10			ENSG00000152689	ENSG00000152689		"EF-hand domain containing"	14545	protein-coding gene	gene with protein product		609531				10048485, 10934204	Standard	NM_170672		Approved	KIAA0846, GRP3	uc002roy.3	Q8IV61	OTTHUMG00000152124	ENST00000403687.3:c.342C>T	2.37:g.33745725C>T						RASGRP3_ENST00000402538.3_Silent_p.H114H|RASGRP3_ENST00000407811.1_Silent_p.H114H	p.H114H	NM_001139488.1	NP_001132960.1	Q8IV61	GRP3_HUMAN			6	1082	+	all_hematologic(175;0.115)		114			N-terminal Ras-GEF.		D6W583|O94931|Q53SD7	Silent	SNP	ENST00000403687.3	37	c.342C>T	CCDS46256.1																																																																																				0.448	RASGRP3-006	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000325462.2	NM_015376		92	159	0	0	0	1	0	92	159					T	33745725	C	T	33745725	2	4	67	1	0	0	0	0	0	0	0	1	13076	535	19	1		1	RASGRP3	2	33745725	Silent	SNP	C	TCGA-EJ-5519-01A-01D-1576-08		33745725	209453648	16	3400											
ATL2	64225	broad.mit.edu	37	chr2	38525644	38525644	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgaacgaaattgttttatcGccacttccttgagatccaag	11	13	7	10	2	0	2	0	2	0	1	3	4	2	2	3	0	1	1	3	0	4	5			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr2:38525644G>A	ENST00000378954.4	-	12	1275	c.1274C>T	c.(1273-1275)gCg>gTg	p.A425V	ATL2_ENST00000402054.1_Missense_Mutation_p.A254V|ATL2_ENST00000539122.1_Missense_Mutation_p.A254V|ATL2_ENST00000419554.2_Missense_Mutation_p.A425V|ATL2_ENST00000452935.2_Missense_Mutation_p.A407V|ATL2_ENST00000332337.4_Missense_Mutation_p.A407V|ATL2_ENST00000546051.1_Missense_Mutation_p.A254V|ATL2_ENST00000406122.1_Missense_Mutation_p.A254V	NM_001135673.1|NM_022374.2	NP_001129145.1|NP_071769.2	Q8NHH9	ATLA2_HUMAN	atlastin GTPase 2	425					endoplasmic reticulum organization (GO:0007029)|Golgi organization (GO:0007030)|GTP catabolic process (GO:0006184)|protein homooligomerization (GO:0051260)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)	p.A425V(2)		breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	22						TTGTTTTATCGCCACTTCCTT	0.428																																						ENST00000378954.4																			2	Substitution - Missense(2)	p.A425V(2)	prostate(2)	breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	22						c.(1273-1275)gCg>gTg		atlastin GTPase 2							136	134	135					2																	38525644		2203	4300	6503	SO:0001583	missense	64225				endoplasmic reticulum organization|Golgi organization|protein homooligomerization	endoplasmic reticulum membrane|integral to membrane	GTP binding|GTPase activity|identical protein binding	g.chr2:38525644G>A		CCDS1795.1, CCDS46260.1	2p22.3	2008-09-17	2008-09-17	2008-09-17	ENSG00000119787	ENSG00000119787			24047	protein-coding gene	gene with protein product		609368	"ADP-ribosylation factor-like 6 interacting protein 2"	ARL6IP2		10508919, 18270207	Standard	NM_022374		Approved		uc002rqq.3	Q8NHH9	OTTHUMG00000102074	ENST00000378954.4:c.1274C>T	2.37:g.38525644G>A	ENSP00000368237:p.Ala425Val					ATL2_ENST00000419554.2_Missense_Mutation_p.A425V|ATL2_ENST00000332337.4_Missense_Mutation_p.A407V|ATL2_ENST00000452935.2_Missense_Mutation_p.A407V|ATL2_ENST00000406122.1_Missense_Mutation_p.A254V|ATL2_ENST00000539122.1_Missense_Mutation_p.A254V|ATL2_ENST00000546051.1_Missense_Mutation_p.A254V|ATL2_ENST00000402054.1_Missense_Mutation_p.A254V	p.A425V	NM_001135673.1|NM_022374.2	NP_001129145.1|NP_071769.2	Q8NHH9	ATLA2_HUMAN			12	1275	-			425					B7Z1X2|B7Z7X8|Q4ZG30|Q7Z630|Q8NHH8|Q9H5M7	Missense_Mutation	SNP	ENST00000378954.4	37	c.1274C>T	CCDS46260.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.271028	0.80469	.	.	ENSG00000119787	ENST00000378954;ENST00000406122;ENST00000402054;ENST00000539122;ENST00000332337;ENST00000419554;ENST00000452935;ENST00000546051	T;T;T;T;T;T;T;T	0.76839	-1.05;-1.05;-1.05;-1.05;-1.05;-1.05;-1.05;-1.05	5.51	5.51	0.81932	Guanylate-binding protein, C-terminal (3);	0.107611	0.64402	D	0.000004	D	0.88093	0.6344	M	0.83384	2.64	0.54753	D	0.999989	P;D;D;D;D	0.76494	0.814;0.967;0.996;0.998;0.999	B;D;P;P;D	0.71870	0.251;0.943;0.905;0.896;0.975	D	0.89268	0.3602	10	0.87932	D	0	-12.4262	14.4003	0.67041	0.0:0.1474:0.8526:0.0	.	254;407;407;425;425	B5MCN0;B7Z7X8;Q8NHH9-4;Q8NHH9-2;Q8NHH9	.;.;.;.;ATLA2_HUMAN	V	425;254;254;254;407;425;407;254	ENSP00000368237:A425V;ENSP00000385446:A254V;ENSP00000384062:A254V;ENSP00000446192:A254V;ENSP00000333393:A407V;ENSP00000415336:A425V;ENSP00000390743:A407V;ENSP00000438938:A254V	ENSP00000333393:A407V	A	-	2	0	ATL2	38379148	1.000000	0.71417	0.966000	0.40874	0.881000	0.50899	5.208000	0.65203	2.746000	0.94184	0.591000	0.81541	GCG		0.428	ATL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219886.2	NM_022374		5	270	0	0	0	1	0	5	270					A	38525644	G	A	38525644	3	1	67	1	0	0	0	0	1	0	0	0	1107	1087	38	1	597	1	ATL2	2	38525644	Missense_Mutation	SNP	G	TCGA-EJ-5519-01A-01D-1576-08	4779919	38525644	204673729	17	3401											
ABCG5	64240	broad.mit.edu	37	chr2	44040309	44040309	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acaactattcctaggatgacAagagctggaataaatgaata	18	9	8	6	0	0	3	0	2	0	1	1	5	1	5	1	2	2	1	1	2	9	5			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr2:44040309A>T	ENST00000260645.1	-	13	2041	c.1902T>A	c.(1900-1902)ctT>ctA	p.L634L	ABCG5_ENST00000405322.1_Silent_p.L463L|ABCG5_ENST00000543989.1_Silent_p.L239L	NM_022436.2	NP_071881.1	Q9H222	ABCG5_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 5	634	ABC transmembrane type-2.				ATP catabolic process (GO:0006200)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|excretion (GO:0007588)|intestinal cholesterol absorption (GO:0030299)|negative regulation of intestinal cholesterol absorption (GO:0045796)|negative regulation of intestinal phytosterol absorption (GO:0010949)|response to drug (GO:0042493)|response to ionizing radiation (GO:0010212)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)|sterol transport (GO:0015918)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|cholesterol transporter activity (GO:0017127)|protein heterodimerization activity (GO:0046982)	p.L634L(1)		breast(1)|kidney(2)|large_intestine(4)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)			Ezetimibe(DB00973)	CTAGGATGACAAGAGCTGGAA	0.403																																						ENST00000543989.1																			1	Substitution - coding silent(1)	p.L634L(1)	prostate(1)	breast(1)|kidney(2)|large_intestine(4)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33						c.(715-717)ctT>ctA		ATP-binding cassette, sub-family G (WHITE), member 5							93	91	92					2																	44040309		2203	4300	6503	SO:0001819	synonymous_variant	64240				cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption	apical plasma membrane|integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity	g.chr2:44040309A>T	T93792	CCDS1814.1	2p21	2012-03-14	2008-07-31		ENSG00000138075	ENSG00000138075		"ATP binding cassette transporters / subfamily G"	13886	protein-coding gene	gene with protein product	"sterolin 1"	605459				11099417, 11452359	Standard	NM_022436		Approved	STSL	uc002rtn.3	Q9H222	OTTHUMG00000128758	ENST00000260645.1:c.1902T>A	2.37:g.44040309A>T						ABCG5_ENST00000405322.1_Silent_p.L463L|ABCG5_ENST00000260645.1_Silent_p.L634L	p.L239L			Q9H222	ABCG5_HUMAN			9	2422	-		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	634			ABC transporter.		Q2T9G2|Q96QZ2|Q96QZ3	Silent	SNP	ENST00000260645.1	37	c.717T>A	CCDS1814.1																																																																																				0.403	ABCG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250675.1	NM_022436		26	60	0	0	0	1	0	26	60					T	44040309	A	T	44040309	2	4	67	1	0	0	0	0	0	0	0	1	71	117	5	5		5	ABCG5	2	44040309	Silent	SNP	A	TCGA-EJ-5519-01A-01D-1576-08	5514665	44040309	199159064	18	3402											
GPR75	10936	broad.mit.edu	37	chr2	54081085	54081085	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aattctggttcctatacagaGccggcatggcacactggatg	10	10	11	10	1	1	1	0	0	1	1	2	2	2	2	2	4	2	3	2	4	3	4			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr2:54081085G>A	ENST00000394705.2	-	2	1079	c.809C>T	c.(808-810)gCt>gTt	p.A270V	GPR75-ASB3_ENST00000352846.3_Intron|ASB3_ENST00000498475.2_Intron|ASB3_ENST00000406625.2_Intron	NM_006794.3	NP_006785.1	O95800	GPR75_HUMAN	G protein-coupled receptor 75	270					chemokine-mediated signaling pathway (GO:0070098)|G-protein coupled receptor signaling pathway (GO:0007186)|regulation of neuron death (GO:1901214)	integral component of plasma membrane (GO:0005887)	C-C chemokine receptor activity (GO:0016493)|G-protein coupled receptor activity (GO:0004930)	p.A270V(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	18			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			CCTATACAGAGCCGGCATGGC	0.557																																						ENST00000394705.2																			1	Substitution - Missense(1)	p.A270V(1)	prostate(1)	breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	18						c.(808-810)gCt>gTt		G protein-coupled receptor 75							123	112	115					2																	54081085		2203	4300	6503	SO:0001583	missense	10936					integral to plasma membrane	G-protein coupled receptor activity	g.chr2:54081085G>A	AF101472	CCDS1849.1	2p16	2012-08-21			ENSG00000119737	ENSG00000119737		"GPCR / Class A : Orphans"	4526	protein-coding gene	gene with protein product		606704				10381362	Standard	NM_006794		Approved	WI-31133	uc002rxo.3	O95800	OTTHUMG00000129280	ENST00000394705.2:c.809C>T	2.37:g.54081085G>A	ENSP00000378195:p.Ala270Val					GPR75-ASB3_ENST00000352846.3_Intron|ASB3_ENST00000498475.2_Intron|ASB3_ENST00000406625.2_Intron	p.A270V	NM_006794.3	NP_006785.1	O95800	GPR75_HUMAN	Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)		2	1079	-			270					B2RC02|Q6NWR2	Missense_Mutation	SNP	ENST00000394705.2	37	c.809C>T	CCDS1849.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.368900	0.82463	.	.	ENSG00000119737	ENST00000394705	T	0.27256	1.68	5.4	5.4	0.78164	GPCR, rhodopsin-like superfamily (1);	0.130962	0.53938	D	0.000057	T	0.55194	0.1905	.	.	.	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.56312	-0.8000	9	0.62326	D	0.03	-9.3384	19.359	0.94428	0.0:0.0:1.0:0.0	.	270	O95800	GPR75_HUMAN	V	270	ENSP00000378195:A270V	ENSP00000378195:A270V	A	-	2	0	GPR75	53934589	1.000000	0.71417	0.685000	0.30070	0.962000	0.63368	8.727000	0.91480	2.811000	0.96726	0.555000	0.69702	GCT		0.557	GPR75-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251403.2			3	80	0	0	0	1	0	3	80					A	54081085	G	A	54081085	3	1	67	1	0	0	0	0	1	0	0	0	6708	971	34	3	817	3	GPR75	2	54081085	Missense_Mutation	SNP	G	TCGA-EJ-5519-01A-01D-1576-08	10040776	54081085	189118288	19	3403											
RETSAT	54884	broad.mit.edu	37	chr2	85571797	85571797	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tccttggtgcctcgcaggcaGatgaaaacagaggtcatgcc	10	8	12	11	1	1	3	1	1	0	2	3	3	2	3	3	3	3	2	3	3	2	1	rs370614781		TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr2:85571797G>C	ENST00000295802.4	-	7	1288	c.1176C>G	c.(1174-1176)atC>atG	p.I392M	RETSAT_ENST00000457495.2_Missense_Mutation_p.I331M|RETSAT_ENST00000263854.6_Missense_Mutation_p.I392M|RETSAT_ENST00000475624.2_5'UTR	NM_017750.3	NP_060220.3	Q6NUM9	RETST_HUMAN	retinol saturase (all-trans-retinol 13,14-reductase)	392					oxidation-reduction process (GO:0055114)|retinol metabolic process (GO:0042572)	endoplasmic reticulum membrane (GO:0005789)|membrane (GO:0016020)|nuclear membrane (GO:0031965)|nuclear outer membrane (GO:0005640)	all-trans-retinol 13,14-reductase activity (GO:0051786)|oxidoreductase activity (GO:0016491)	p.I392M(1)		NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	30					Vitamin A(DB00162)	CTCGCAGGCAGATGAAAACAG	0.592																																						ENST00000295802.4																			1	Substitution - Missense(1)	p.I392M(1)	prostate(1)	NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	30						c.(1174-1176)atC>atG		retinol saturase (all-trans-retinol 13,14-reductase)	Vitamin A(DB00162)						122	98	106					2																	85571797		2203	4300	6503	SO:0001583	missense	54884				retinol metabolic process	endoplasmic reticulum membrane|nuclear outer membrane	all-trans-retinol 13,14-reductase activity|electron carrier activity	g.chr2:85571797G>C	AK075261	CCDS1972.1	2p11.2	2008-02-05			ENSG00000042445	ENSG00000042445	1.3.99.23		25991	protein-coding gene	gene with protein product						12975309, 15358783	Standard	NM_017750		Approved	FLJ20296	uc002spd.3	Q6NUM9	OTTHUMG00000154611	ENST00000295802.4:c.1176C>G	2.37:g.85571797G>C	ENSP00000295802:p.Ile392Met					RETSAT_ENST00000263854.6_Missense_Mutation_p.I392M|RETSAT_ENST00000457495.2_Missense_Mutation_p.I331M|RETSAT_ENST00000475624.2_5'UTR	p.I392M	NM_017750.3	NP_060220.3	Q6NUM9	RETST_HUMAN			7	1288	-			392					A6NIK3|Q53R95|Q53SA9|Q6UX05|Q8N2H5|Q96FA4|Q9NXE5	Missense_Mutation	SNP	ENST00000295802.4	37	c.1176C>G	CCDS1972.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	8.931|8.931	0.963352|0.963352	0.18583|0.18583	.|.	.|.	ENSG00000042445|ENSG00000042445	ENST00000295802;ENST00000263854;ENST00000457495|ENST00000449375	T;T|.	0.25579|.	1.85;1.79|.	4.62|4.62	3.74|3.74	0.42951|0.42951	.|.	0.296266|.	0.36740|.	N|.	0.002436|.	T|T	0.68044|0.68044	0.2958|0.2958	M|M	0.82716|0.82716	2.605|2.605	0.37530|0.37530	D|D	0.917876|0.917876	B;B;B|.	0.34147|.	0.438;0.438;0.311|.	B;B;B|.	0.38378|.	0.255;0.255;0.272|.	T|T	0.71629|0.71629	-0.4535|-0.4535	10|5	0.72032|.	D|.	0.01|.	-19.2192|-19.2192	7.5365|7.5365	0.27712|0.27712	0.1987:0.0:0.8013:0.0|0.1987:0.0:0.8013:0.0	.|.	331;331;392|.	G5E9N3;B4DKE1;Q6NUM9|.	.;.;RETST_HUMAN|.	M|C	392;392;331|181	ENSP00000295802:I392M;ENSP00000405040:I331M|.	ENSP00000263854:I392M|.	I|S	-|-	3|2	3|0	RETSAT|RETSAT	85425308|85425308	0.170000|0.170000	0.23016|0.23016	0.973000|0.973000	0.42090|0.42090	0.011000|0.011000	0.07611|0.07611	-0.513000|-0.513000	0.06305|0.06305	1.068000|1.068000	0.40764|0.40764	0.561000|0.561000	0.74099|0.74099	ATC|TCT		0.592	RETSAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252489.1	NM_017750		3	77	0	0	0	1	0	3	77					C	85571797	G	C	85571797	3	2	67	1	0	0	0	0	1	0	0	0	13238	932	33	5	676	5	RETSAT	2	85571797	Missense_Mutation	SNP	G	TCGA-EJ-5519-01A-01D-1576-08	31490712	85571797	157627576	20	3404											
TTC30B	150737	broad.mit.edu	37	chr2	178416809	178416809	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	caatgccctcagtggtcatgCccacacctagctcagggtgc	8	8	10	15	0	3	0	3	0	0	0	3	0	3	0	3	2	4	1	3	2	2	1			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr2:178416809C>T	ENST00000408939.3	-	1	933	c.683G>A	c.(682-684)gGc>gAc	p.G228D		NM_152517.2	NP_689730.2	Q8N4P2	TT30B_HUMAN	tetratricopeptide repeat domain 30B	228					cilium assembly (GO:0042384)|intraciliary transport (GO:0042073)	cilium (GO:0005929)|intraciliary transport particle B (GO:0030992)		p.G228D(2)		cervix(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|urinary_tract(1)	23			OV - Ovarian serous cystadenocarcinoma(117;0.00151)|Epithelial(96;0.00931)|all cancers(119;0.0362)			AGTGGTCATGCCCACACCTAG	0.522																																						ENST00000408939.2																			2	Substitution - Missense(2)	p.G228D(2)	prostate(1)|kidney(1)	cervix(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|urinary_tract(1)	23						c.(682-684)gGc>gAc		tetratricopeptide repeat domain 30B							81	79	80					2																	178416809		2203	4300	6503	SO:0001583	missense	150737				cell projection organization	cilium	binding	g.chr2:178416809C>T	AK055552	CCDS42784.1	2q31.2	2014-02-21			ENSG00000196659	ENSG00000196659		"Tetratricopeptide (TTC) repeat domain containing", "Intraflagellar transport homologs"	26425	protein-coding gene	gene with protein product						12477932	Standard	NM_152517		Approved	FLJ30990, fleer, IFT70	uc002uln.3	Q8N4P2	OTTHUMG00000154166	ENST00000408939.3:c.683G>A	2.37:g.178416809C>T	ENSP00000386181:p.Gly228Asp						p.G228D	NM_152517.2	NP_689730.2	Q8N4P2	TT30B_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00151)|Epithelial(96;0.00931)|all cancers(119;0.0362)		1	933	-			228					Q63HQ1|Q96NE6	Missense_Mutation	SNP	ENST00000408939.3	37	c.683G>A	CCDS42784.1	.	.	.	.	.	.	.	.	.	.	C	18.65	3.669288	0.67814	.	.	ENSG00000196659	ENST00000500357;ENST00000408939	T	0.25085	1.82	4.65	3.76	0.43208	Tetratricopeptide-like helical (1);	0.000000	0.85682	D	0.000000	T	0.58452	0.2123	M	0.90977	3.165	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.69394	-0.5157	10	0.59425	D	0.04	.	14.4687	0.67501	0.1483:0.8517:0.0:0.0	.	228	Q8N4P2	TT30B_HUMAN	D	181;228	ENSP00000386181:G228D	ENSP00000386181:G228D	G	-	2	0	TTC30B	178125055	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	5.848000	0.69458	1.282000	0.44496	0.655000	0.94253	GGC		0.522	TTC30B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334193.2	NM_152517		4	118	0	0	0	1	0	4	118					T	178416809	C	T	178416809	3	4	67	1	0	0	0	0	1	0	0	0	16696	739	26	3	1318	3	TTC30B	2	178416809	Missense_Mutation	SNP	C	TCGA-EJ-5519-01A-01D-1576-08	92845012	178416809	64782564	21	3405											
VWC2L	402117	broad.mit.edu	37	chr2	215278952	215278952	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcatgaagcttgcatacttcTgttggtcatccctggattgg	7	15	10	9	0	3	1	2	1	1	0	4	2	4	2	1	3	3	3	1	3	2	5			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr2:215278952T>G	ENST00000312504.5	+	2	837	c.35T>G	c.(34-36)cTg>cGg	p.L12R	VWC2L_ENST00000427124.1_Missense_Mutation_p.L12R|AC107218.3_ENST00000437883.1_RNA|AC107218.3_ENST00000412896.1_RNA	NM_001080500.2	NP_001073969.1	B2RUY7	VWC2L_HUMAN	von Willebrand factor C domain containing protein 2-like	12					negative regulation of BMP signaling pathway (GO:0030514)|positive regulation of neuron differentiation (GO:0045666)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|extracellular space (GO:0005615)|synapse (GO:0045202)		p.L12R(1)		breast(1)|endometrium(1)|large_intestine(3)|lung(10)|prostate(1)	16						TGCATACTTCTGTTGGTCATC	0.433																																						ENST00000312504.5																			1	Substitution - Missense(1)	p.L12R(1)	prostate(1)	breast(1)|endometrium(1)|large_intestine(3)|lung(10)|prostate(1)	16						c.(34-36)cTg>cGg		von Willebrand factor C domain containing protein 2-like							92	89	90					2																	215278952		1911	4126	6037	SO:0001583	missense	402117					extracellular region		g.chr2:215278952T>G	AB374231	CCDS46509.1	2q34-q35	2011-01-25	2011-01-25		ENSG00000174453	ENSG00000174453			37203	protein-coding gene	gene with protein product			"von Willebrand factor C domain-containing protein 2-like"				Standard	NM_001080500		Approved		uc002vet.2	B2RUY7	OTTHUMG00000154811	ENST00000312504.5:c.35T>G	2.37:g.215278952T>G	ENSP00000308976:p.Leu12Arg					AC107218.3_ENST00000412896.1_RNA|AC107218.3_ENST00000437883.1_RNA|VWC2L_ENST00000427124.1_Missense_Mutation_p.L12R	p.L12R	NM_001080500.2	NP_001073969.1	B2RUY7	VWC2L_HUMAN			2	837	+			12					A6NC69|B2RUW7|B7X8X1	Missense_Mutation	SNP	ENST00000312504.5	37	c.35T>G	CCDS46509.1	.	.	.	.	.	.	.	.	.	.	T	23.5	4.425061	0.83667	.	.	ENSG00000174453	ENST00000312504;ENST00000427124	T;T	0.70516	-0.49;-0.49	6.08	6.08	0.98989	.	0.000000	0.64402	D	0.000001	T	0.80199	0.4579	L	0.44542	1.39	0.54753	D	0.99998	D;D	0.76494	0.999;0.991	D;P	0.83275	0.996;0.8	T	0.81568	-0.0873	10	0.72032	D	0.01	-1.9363	16.6438	0.85155	0.0:0.0:0.0:1.0	.	12;12	B7ZW27;B2RUY7	.;VWC2L_HUMAN	R	12	ENSP00000308976:L12R;ENSP00000403779:L12R	ENSP00000308976:L12R	L	+	2	0	VWC2L	214987197	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	7.466000	0.80914	2.333000	0.79357	0.533000	0.62120	CTG		0.433	VWC2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337175.1	NM_001080500		9	107	0	0	0	1	0	9	107					G	215278952	T	G	215278952	3	3	67	1	0	0	0	0	1	0	0	0	17241	1580	55	5	37	5	VWC2L	2	215278952	Missense_Mutation	SNP	T	TCGA-EJ-5519-01A-01D-1576-08	36862143	215278952	27920421	22	3406											
BARD1	580	broad.mit.edu	37	chr2	215645851	215645851	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccatttatctgaggactggaGataacagatggttggctaca	12	11	11	7	0	1	3	0	1	1	2	1	5	1	4	1	4	2	2	1	4	3	5			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr2:215645851G>A	ENST00000260947.4	-	4	881	c.747C>T	c.(745-747)atC>atT	p.I249I	BARD1_ENST00000471787.1_5'UTR|BARD1_ENST00000449967.2_Silent_p.I105I	NM_000465.2|NM_001282543.1|NM_001282545.1|NM_001282548.1	NP_000456.2|NP_001269472.1|NP_001269474.1|NP_001269477.1	Q99728	BARD1_HUMAN	BRCA1 associated RING domain 1	249					cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|negative regulation of apoptotic process (GO:0043066)|negative regulation of mRNA 3'-end processing (GO:0031441)|negative regulation of protein export from nucleus (GO:0046826)|positive regulation of apoptotic process (GO:0043065)|positive regulation of protein catabolic process (GO:0045732)|protein K6-linked ubiquitination (GO:0085020)|protein ubiquitination (GO:0016567)|regulation of phosphorylation (GO:0042325)|tissue homeostasis (GO:0001894)	BRCA1-A complex (GO:0070531)|BRCA1-BARD1 complex (GO:0031436)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	kinase binding (GO:0019900)|ligase activity (GO:0016874)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|RNA binding (GO:0003723)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.I249I(2)		NS(2)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|prostate(4)|upper_aerodigestive_tract(1)	35		Renal(323;0.0243)		Epithelial(149;3.2e-06)|all cancers(144;0.000461)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		GAGGACTGGAGATAACAGATG	0.383									Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome																													ENST00000260947.4																			2	Substitution - coding silent(2)	p.I249I(2)	prostate(2)	NS(2)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|prostate(4)|upper_aerodigestive_tract(1)	35						c.(745-747)atC>atT		BRCA1 associated RING domain 1							62	66	64					2																	215645851		2203	4299	6502	SO:0001819	synonymous_variant	580	Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome	Familial Cancer Database	Familial Neuroblastoma;CCHS, Ondine Curse, incl. Ondine-Hirschsprung Disease	cell cycle arrest|DNA repair|negative regulation of apoptosis|negative regulation of mRNA 3'-end processing|negative regulation of protein export from nucleus|positive regulation of apoptosis|positive regulation of protein catabolic process|protein K6-linked ubiquitination|regulation of phosphorylation|tissue homeostasis	BRCA1-A complex|BRCA1-BARD1 complex|cytoplasm	kinase binding|protein heterodimerization activity|protein homodimerization activity|RNA binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr2:215645851G>A		CCDS2397.1, CCDS74645.1, CCDS74646.1, CCDS74647.1, CCDS74648.1	2q34-q35	2013-01-10			ENSG00000138376	ENSG00000138376		"Ankyrin repeat domain containing"	952	protein-coding gene	gene with protein product		601593				8944023, 9425226, 15159397	Standard	NM_001282548		Approved		uc002veu.2	Q99728	OTTHUMG00000133016	ENST00000260947.4:c.747C>T	2.37:g.215645851G>A						BARD1_ENST00000449967.2_Silent_p.I105I|BARD1_ENST00000471787.1_5'UTR	p.I249I	NM_000465.2	NP_000456.2	Q99728	BARD1_HUMAN		Epithelial(149;3.2e-06)|all cancers(144;0.000461)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)	4	881	-		Renal(323;0.0243)	249					F6MDH7|F6MDH8|F6MDH9|O43574|Q53SS5	Silent	SNP	ENST00000260947.4	37	c.747C>T	CCDS2397.1																																																																																				0.383	BARD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256602.1	NM_000465		54	115	0	0	0	1	0	54	115					A	215645851	G	A	215645851	2	1	67	1	0	0	0	0	0	0	0	1	1312	932	33	3		3	BARD1	2	215645851	Silent	SNP	G	TCGA-EJ-5519-01A-01D-1576-08	366899	215645851	27553522	23	3407											
STK36	64320	broad.mit.edu	37	chr2	219538385	219538385	+	5'Flank	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	catcccaaaattggggcgctCagagaaggagctgaggaatt	13	7	13	8	1	1	2	1	1	0	1	2	5	2	4	1	4	1	2	1	4	4	2			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr2:219538385C>T	ENST00000295704.2	-	0	0				STK36_ENST00000440309.1_Missense_Mutation_p.S41L|STK36_ENST00000295709.3_Missense_Mutation_p.S41L|STK36_ENST00000392106.2_Missense_Mutation_p.S41L|STK36_ENST00000392105.3_Missense_Mutation_p.S41L	NM_022453.2	NP_071898.2	Q96BH1	RNF25_HUMAN	ring finger protein 25						positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein ubiquitination (GO:0016567)	cytosol (GO:0005829)|nucleus (GO:0005634)	ligase activity (GO:0016874)|NF-kappaB binding (GO:0051059)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.S41L(2)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	24		Renal(207;0.0474)		Epithelial(149;6.99e-07)|all cancers(144;0.000129)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TTGGGGCGCTCAGAGAAGGAG	0.448																																						ENST00000295709.3																			2	Substitution - Missense(2)	p.S41L(2)	prostate(2)	biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(20)|ovary(4)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	52						c.(121-123)tCa>tTa		serine/threonine kinase 36							67	66	66					2																	219538385		2203	4300	6503	SO:0001631	upstream_gene_variant	27148				cilium assembly|positive regulation of hh target transcription factor activity|positive regulation of smoothened signaling pathway|post-embryonic development	aggresome|cytoplasm|focal adhesion|intermediate filament cytoskeleton|nucleus	ATP binding|protein serine/threonine kinase activity|transcription factor binding	g.chr2:219538385C>T		CCDS2420.1	2q35	2008-02-05			ENSG00000163481	ENSG00000163481		"RING-type (C3HC4) zinc fingers"	14662	protein-coding gene	gene with protein product						12748188	Standard	NM_022453		Approved	AO7, FLJ13906	uc002vit.3	Q96BH1	OTTHUMG00000133077		2.37:g.219538385C>T	Exception_encountered					STK36_ENST00000392105.3_Missense_Mutation_p.S41L|STK36_ENST00000392106.2_Missense_Mutation_p.S41L|STK36_ENST00000440309.1_Missense_Mutation_p.S41L	p.S41L	NM_015690.4	NP_056505.2	Q9NRP7	STK36_HUMAN		Epithelial(149;9.65e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00984)	3	401	+		Renal(207;0.0915)	41			Protein kinase.		A8K0D6|Q53HQ5|Q9H874	Missense_Mutation	SNP	ENST00000295704.2	37	c.122C>T	CCDS2420.1	.	.	.	.	.	.	.	.	.	.	C	37	5.997528	0.97184	.	.	ENSG00000163482	ENST00000295709;ENST00000392106;ENST00000392105;ENST00000440309;ENST00000424080	T;T;T;T;D	0.83992	-0.18;-0.18;-0.18;-0.18;-1.79	5.71	5.71	0.89125	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.37095	N	0.002245	D	0.85902	0.5805	L	0.38733	1.17	0.80722	D	1	P;B	0.51933	0.949;0.422	P;P	0.55871	0.786;0.491	D	0.86889	0.2047	10	0.87932	D	0	-7.2063	19.8769	0.96880	0.0:1.0:0.0:0.0	.	41;41	Q9NRP7-2;Q9NRP7	.;STK36_HUMAN	L	41	ENSP00000295709:S41L;ENSP00000375955:S41L;ENSP00000375954:S41L;ENSP00000394095:S41L;ENSP00000403527:S41L	ENSP00000295709:S41L	S	+	2	0	STK36	219246629	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.882000	0.69714	2.712000	0.92718	0.650000	0.86243	TCA		0.448	RNF25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256721.1	NM_022453		20	39	0	0	0	1	0	20	39					T	219538385	C	T	219538385	1	4	67	0	1	0	0	0	0	0	0	0	15301	838	29	3		3	STK36	2	219538385	5'Flank	SNP	C	TCGA-EJ-5519-01A-01D-1576-08	3892534	219538385	23660988	24	3408											
DNAJB2	3300	broad.mit.edu	37	chr2	220145308	220145308	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cactttctgcaggtatcggcGcaaggctctccagtggcacc	7	9	11	14	2	2	0	0	0	2	0	4	0	2	0	2	4	1	5	2	4	2	2			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr2:220145308G>A	ENST00000336576.5	+	3	362	c.74G>A	c.(73-75)cGc>cAc	p.R25H	DNAJB2_ENST00000463463.1_3'UTR|DNAJB2_ENST00000392086.4_Missense_Mutation_p.R25H	NM_006736.5	NP_006727.2	P25686	DNJB2_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 2	25	J. {ECO:0000255|PROSITE- ProRule:PRU00286}.				cell death (GO:0008219)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of inclusion body assembly (GO:0090084)|negative regulation of protein deubiquitination (GO:0090086)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein ubiquitination (GO:0031398)|protein folding (GO:0006457)|protein refolding (GO:0042026)|response to unfolded protein (GO:0006986)	cytosol (GO:0005829)|inclusion body (GO:0016234)|nucleus (GO:0005634)	chaperone binding (GO:0051087)|Hsp70 protein binding (GO:0030544)|polyubiquitin binding (GO:0031593)|proteasome binding (GO:0070628)|unfolded protein binding (GO:0051082)	p.R25H(1)		endometrium(4)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	14		Renal(207;0.0474)		Epithelial(149;1.97e-06)|all cancers(144;0.00028)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AGGTATCGGCGCAAGGCTCTC	0.517																																						ENST00000336576.5																			1	Substitution - Missense(1)	p.R25H(1)	prostate(1)	endometrium(4)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	14						c.(73-75)cGc>cAc		DnaJ (Hsp40) homolog, subfamily B, member 2							49	55	53					2																	220145308		2203	4300	6503	SO:0001583	missense	3300				ER-associated protein catabolic process|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of inclusion body assembly|negative regulation of protein deubiquitination|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein folding|response to unfolded protein	inclusion body	heat shock protein binding|Hsp70 protein binding|polyubiquitin binding|proteasome binding|protein binding|unfolded protein binding	g.chr2:220145308G>A		CCDS2439.1, CCDS46519.1	2q32-q34	2011-09-02			ENSG00000135924	ENSG00000135924		"Heat shock proteins / DNAJ (HSP40)"	5228	protein-coding gene	gene with protein product		604139		HSJ1		1599432, 10516435	Standard	NM_006736		Approved	HSPF3	uc002vkx.1	P25686	OTTHUMG00000133134	ENST00000336576.5:c.74G>A	2.37:g.220145308G>A	ENSP00000338019:p.Arg25His					DNAJB2_ENST00000392086.4_Missense_Mutation_p.R25H|DNAJB2_ENST00000463463.1_3'UTR	p.R25H	NM_006736.5	NP_006727.2	P25686	DNJB2_HUMAN		Epithelial(149;1.97e-06)|all cancers(144;0.00028)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	3	362	+		Renal(207;0.0474)	25			J.		A8K9P6|Q8IUK1|Q8IUK2|Q96F52	Missense_Mutation	SNP	ENST00000336576.5	37	c.74G>A	CCDS2439.1	.	.	.	.	.	.	.	.	.	.	G	24.8	4.575779	0.86645	.	.	ENSG00000135924	ENST00000336576;ENST00000425450;ENST00000392086;ENST00000421532;ENST00000392087;ENST00000442681;ENST00000439026	T;T;T;T;T;T;T	0.35605	1.3;1.3;1.3;1.3;1.3;1.3;1.3	4.89	-1.6	0.08426	Heat shock protein DnaJ, N-terminal (5);	0.636227	0.13469	N	0.385529	T	0.49184	0.1542	L	0.53561	1.675	0.09310	N	1	D;P;P	0.69078	0.997;0.867;0.897	D;P;B	0.67725	0.953;0.714;0.318	T	0.47711	-0.9096	10	0.87932	D	0	.	11.6462	0.51263	0.6978:0.0:0.3022:0.0	.	25;25;25	B4DF16;P25686;P25686-2	.;DNJB2_HUMAN;.	H	25	ENSP00000338019:R25H;ENSP00000414796:R25H;ENSP00000375936:R25H;ENSP00000395173:R25H;ENSP00000375937:R25H;ENSP00000392790:R25H;ENSP00000387951:R25H	ENSP00000338019:R25H	R	+	2	0	DNAJB2	219853552	0.060000	0.20803	0.004000	0.12327	0.821000	0.46438	0.676000	0.25247	-0.295000	0.08960	-0.258000	0.10820	CGC		0.517	DNAJB2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256823.2			3	57	0	0	0	1	0	3	57					A	220145308	G	A	220145308	3	1	67	1	0	0	0	0	1	0	0	0	4620	1087	38	1	80	1	DNAJB2	2	220145308	Missense_Mutation	SNP	G	TCGA-EJ-5519-01A-01D-1576-08	606923	220145308	23054065	25	3409											
KIAA1486	57624	broad.mit.edu	37	chr2	226447105	226447105	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgctttgcgacatccctccGcccttccccaacctgctttc	4	12	5	20	2	0	0	0	0	0	0	4	1	3	0	6	0	4	2	6	0	1	3			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr2:226447105G>A	ENST00000272907.6	+	4	1385	c.972G>A	c.(970-972)ccG>ccA	p.P324P	NYAP2_ENST00000409269.2_Intron	NM_020864.1	NP_065915.1	Q9P242	NYAP2_HUMAN	neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2	324	Pro-rich.				neuron projection morphogenesis (GO:0048812)|phosphatidylinositol 3-kinase signaling (GO:0014065)			p.P324P(1)									ACATCCCTCCGCCCTTCCCCA	0.647																																						ENST00000272907.6																			1	Substitution - coding silent(1)	p.P324P(1)	prostate(1)								c.(970-972)ccG>ccA		neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2							43	46	45					2																	226447105		1949	4125	6074	SO:0001819	synonymous_variant	57624							g.chr2:226447105G>A	AB040919	CCDS46529.1	2q36.3	2011-11-30	2011-11-30	2011-11-30	ENSG00000144460	ENSG00000144460			29291	protein-coding gene	gene with protein product		615478	"KIAA1486"	KIAA1486		10819331, 21946561	Standard	NM_020864		Approved		uc002voe.2	Q9P242	OTTHUMG00000153450	ENST00000272907.6:c.972G>A	2.37:g.226447105G>A						NYAP2_ENST00000409269.2_Intron	p.P324P	NM_020864.1	NP_065915.1	Q9P242	K1486_HUMAN			4	1385	+			324			Pro-rich.		A2RRN4|Q96NL2	Silent	SNP	ENST00000272907.6	37	c.972G>A	CCDS46529.1																																																																																				0.647	NYAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331258.1	NM_020864		8	40	0	0	0	1	0	8	40					A	226447105	G	A	226447105	2	1	67	1	0	0	0	0	0	0	0	1	8237	1074	38	1		1	KIAA1486	2	226447105	Silent	SNP	G	TCGA-EJ-5519-01A-01D-1576-08	6301797	226447105	16752268	26	3410											
LRRC3B	116135	broad.mit.edu	37	chr3	26751543	26751543	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtccgacaatcggattcaaaGtgtgcacaaaaatgccttca	14	9	8	10	2	2	0	2	0	0	0	4	2	3	1	2	1	2	1	2	1	4	2			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr3:26751543G>C	ENST00000396641.2	+	2	972	c.380G>C	c.(379-381)aGt>aCt	p.S127T	AC114877.3_ENST00000446601.1_lincRNA|LRRC3B_ENST00000456208.2_Missense_Mutation_p.S127T|LRRC3B_ENST00000417744.1_Missense_Mutation_p.S127T	NM_052953.2	NP_443185.1	Q96PB8	LRC3B_HUMAN	leucine rich repeat containing 3B	127						integral component of membrane (GO:0016021)		p.S127T(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|pancreas(2)|prostate(1)|skin(4)	21						CGGATTCAAAGTGTGCACAAA	0.478																																						ENST00000396641.2																			1	Substitution - Missense(1)	p.S127T(1)	prostate(1)	breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|pancreas(2)|prostate(1)|skin(4)	21						c.(379-381)aGt>aCt		leucine rich repeat containing 3B							60	57	58					3																	26751543		2203	4300	6503	SO:0001583	missense	116135					integral to membrane		g.chr3:26751543G>C	AF396933	CCDS2644.1	3p24	2004-07-12			ENSG00000179796	ENSG00000179796			28105	protein-coding gene	gene with protein product							Standard	NM_052953		Approved	LRP15	uc003cdp.3	Q96PB8	OTTHUMG00000130572	ENST00000396641.2:c.380G>C	3.37:g.26751543G>C	ENSP00000379880:p.Ser127Thr					LRRC3B_ENST00000417744.1_Missense_Mutation_p.S127T|LRRC3B_ENST00000456208.2_Missense_Mutation_p.S127T	p.S127T	NM_052953.2	NP_443185.1	Q96PB8	LRC3B_HUMAN			2	972	+			127					Q5M8T0	Missense_Mutation	SNP	ENST00000396641.2	37	c.380G>C	CCDS2644.1	.	.	.	.	.	.	.	.	.	.	G	14.70	2.614025	0.46631	.	.	ENSG00000179796	ENST00000396641;ENST00000432040;ENST00000417744;ENST00000456208	D;D;D;D	0.90385	-2.66;-2.66;-2.66;-2.66	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	D	0.85084	0.5616	N	0.12569	0.235	0.80722	D	1	B	0.31548	0.328	B	0.35039	0.194	T	0.82299	-0.0526	10	0.41790	T	0.15	-17.1404	19.8676	0.96824	0.0:0.0:1.0:0.0	.	127	Q96PB8	LRC3B_HUMAN	T	127	ENSP00000379880:S127T;ENSP00000398184:S127T;ENSP00000406370:S127T;ENSP00000394940:S127T	ENSP00000379880:S127T	S	+	2	0	LRRC3B	26726547	1.000000	0.71417	0.998000	0.56505	0.991000	0.79684	5.210000	0.65214	2.941000	0.99782	0.655000	0.94253	AGT		0.478	LRRC3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252997.2	NM_052953		25	43	0	0	0	1	0	25	43					C	26751543	G	C	26751543	3	2	67	1	0	0	0	0	1	0	0	0	8996	1029	36	5	382	5	LRRC3B	3	26751543	Missense_Mutation	SNP	G	TCGA-EJ-5519-01A-01D-1576-08		26751543	171270887	27	3411											
XIRP1	165904	broad.mit.edu	37	chr3	39226607	39226607	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	catgggctgctctcctgaggGgccggggccccactgtggtg	3	8	17	13	1	1	1	0	1	1	0	2	1	1	1	4	6	1	2	4	6	0	0			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr3:39226607G>T	ENST00000340369.3	-	2	4558	c.4330C>A	c.(4330-4332)Ccc>Acc	p.P1444T	XIRP1_ENST00000421646.1_Missense_Mutation_p.P127T|XIRP1_ENST00000396251.1_3'UTR	NM_194293.2	NP_919269.2	Q702N8	XIRP1_HUMAN	xin actin-binding repeat containing 1	1444					cardiac muscle cell development (GO:0055013)|negative regulation of cell proliferation (GO:0008285)|regulation of membrane potential (GO:0042391)|sarcomere organization (GO:0045214)	fascia adherens (GO:0005916)	poly(A) RNA binding (GO:0044822)	p.P1444T(1)		breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6)	71				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		TCTCCTGAGGGGCCGGGGCCC	0.612																																						ENST00000340369.3																			1	Substitution - Missense(1)	p.P1444T(1)	prostate(1)	breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6)	71						c.(4330-4332)Ccc>Acc		xin actin-binding repeat containing 1							52	63	60					3																	39226607		2203	4299	6502	SO:0001583	missense	165904						actin binding	g.chr3:39226607G>T	AW755250	CCDS2683.1, CCDS56245.1	3p21.33	2008-02-05	2007-06-27	2007-06-27	ENSG00000168334	ENSG00000168334			14301	protein-coding gene	gene with protein product		609777	"cardiomyopathy associated 1"	CMYA1		12203715, 15454575	Standard	NM_001198621		Approved	DKFZp451D042, Xin	uc003cjk.2	Q702N8	OTTHUMG00000131297	ENST00000340369.3:c.4330C>A	3.37:g.39226607G>T	ENSP00000343140:p.Pro1444Thr					XIRP1_ENST00000396251.1_3'UTR|XIRP1_ENST00000421646.1_Missense_Mutation_p.P127T	p.P1444T	NM_194293.2	NP_919269.2	Q702N8	XIRP1_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)	2	4558	-			1444					A0JP25|A4QPE2|Q68DF2|Q6ZTR3|Q702N9|Q8IVN7|Q8N1N3|Q8N904|Q8TCG7	Missense_Mutation	SNP	ENST00000340369.3	37	c.4330C>A	CCDS2683.1	.	.	.	.	.	.	.	.	.	.	G	0.010	-1.793186	0.00623	.	.	ENSG00000168334	ENST00000340369;ENST00000421646	T;T	0.20598	3.94;2.06	4.42	-0.769	0.11009	.	13.444200	0.00929	N	0.002681	T	0.16769	0.0403	L	0.38175	1.15	0.09310	N	1	B	0.10296	0.003	B	0.06405	0.002	T	0.16424	-1.0403	10	0.35671	T	0.21	.	3.9048	0.09177	0.2781:0.0:0.4369:0.285	.	1444	Q702N8	XIRP1_HUMAN	T	1444;127	ENSP00000343140:P1444T;ENSP00000391645:P127T	ENSP00000343140:P1444T	P	-	1	0	XIRP1	39201611	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.017000	0.12590	-0.306000	0.08818	-1.966000	0.00469	CCC		0.612	XIRP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254065.1	XM_093522		34	112	1	0	2.47316e-13	1	2.70768e-13	34	112					T	39226607	G	T	39226607	3	4	67	1	0	0	0	0	1	0	0	0	17426	1232	43	5	1205	5	XIRP1	3	39226607	Missense_Mutation	SNP	G	TCGA-EJ-5519-01A-01D-1576-08	12475064	39226607	158795823	28	3412											
C3orf23	285343	broad.mit.edu	37	chr3	44399287	44399287	+	Silent	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cccttttcaagagctttatcGggagctgaagcagtcaatgc	10	11	10	10	1	2	2	2	1	0	1	3	3	2	3	1	1	4	3	1	1	4	4			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr3:44399287G>C	ENST00000342649.4	+	3	511	c.84G>C	c.(82-84)tcG>tcC	p.S28S	TCAIM_ENST00000417237.1_Silent_p.S28S|TCAIM_ENST00000396078.3_Silent_p.S28S|TCAIM_ENST00000383746.3_Silent_p.S28S	NM_001282913.1|NM_173826.3	NP_001269842.1|NP_776187.2	Q8N3R3	TCAIM_HUMAN	T cell activation inhibitor, mitochondrial	28						mitochondrion (GO:0005739)		p.S28S(2)									GAGCTTTATCGGGAGCTGAAG	0.398																																						ENST00000342649.4																			2	Substitution - coding silent(2)	p.S28S(2)	prostate(2)								c.(82-84)tcG>tcC		T cell activation inhibitor, mitochondrial							122	117	119					3																	44399287		2203	4300	6503	SO:0001819	synonymous_variant	285343							g.chr3:44399287G>C		CCDS2712.1, CCDS43076.1	3p21.33-p21.32	2012-08-22	2012-08-22	2012-08-22	ENSG00000179152	ENSG00000179152			25241	protein-coding gene	gene with protein product	"tolerance associated gene-1"		"chromosome 3 open reading frame 23"	C3orf23		12477932	Standard	NM_001029840		Approved	DKFZp313N0621, TOAG-1	uc003cnd.4	Q8N3R3	OTTHUMG00000133049	ENST00000342649.4:c.84G>C	3.37:g.44399287G>C						TCAIM_ENST00000417237.1_Silent_p.S28S|TCAIM_ENST00000396078.3_Silent_p.S28S|TCAIM_ENST00000383746.3_Silent_p.S28S	p.S28S	NM_173826.3	NP_776187.2					3	511	+								A8K9P1|Q0P5T9|Q495R1|Q495R3|Q4G0M4|Q6GMU8	Silent	SNP	ENST00000342649.4	37	c.84G>C	CCDS2712.1																																																																																				0.398	TCAIM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256655.2	NM_173826		40	78	0	0	0	1	0	40	78					C	44399287	G	C	44399287	2	2	67	1	0	0	0	0	0	0	0	1	2216	1103	39	5		5	C3orf23	3	44399287	Silent	SNP	G	TCGA-EJ-5519-01A-01D-1576-08	5172680	44399287	153623143	29	3413											
CCR9	10803	broad.mit.edu	37	chr3	45942586	45942586	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctttcttgtcactcttccCttctgggccattgctgctgc	2	17	7	15	0	5	0	1	0	4	0	6	0	6	0	2	1	3	2	2	1	0	5			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr3:45942586C>T	ENST00000357632.2	+	3	486	c.306C>T	c.(304-306)ccC>ccT	p.P102P	CCR9_ENST00000395963.2_Silent_p.P90P|Y_RNA_ENST00000364765.1_RNA|LZTFL1_ENST00000536047.1_Intron|LZTFL1_ENST00000539217.1_Intron|CCR9_ENST00000355983.2_Silent_p.P90P|CCR9_ENST00000422395.1_3'UTR	NM_001256369.1|NM_031200.2	NP_001243298.1|NP_112477.1	P51686	CCR9_HUMAN	chemokine (C-C motif) receptor 9	102					cellular defense response (GO:0006968)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|positive regulation of cytosolic calcium ion concentration (GO:0007204)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	C-C chemokine receptor activity (GO:0016493)|chemokine receptor activity (GO:0004950)	p.P102P(1)		breast(1)|endometrium(4)|large_intestine(8)|lung(2)|ovary(2)|prostate(2)|skin(1)	20				BRCA - Breast invasive adenocarcinoma(193;0.00118)|KIRC - Kidney renal clear cell carcinoma(197;0.0182)|Kidney(197;0.0214)		TCACTCTTCCCTTCTGGGCCA	0.473																																						ENST00000357632.2																			1	Substitution - coding silent(1)	p.P102P(1)	prostate(1)	breast(1)|endometrium(4)|large_intestine(8)|lung(2)|ovary(2)|prostate(2)|skin(1)	20						c.(304-306)ccC>ccT		chemokine (C-C motif) receptor 9							241	227	232					3																	45942586		2203	4300	6503	SO:0001819	synonymous_variant	10803				cellular defense response|chemotaxis|elevation of cytosolic calcium ion concentration|immune response	integral to plasma membrane		g.chr3:45942586C>T	AJ132337	CCDS2732.1, CCDS2733.1	3p21.31	2012-09-20			ENSG00000173585	ENSG00000173585		"GPCR / Class A : Chemokine receptors : C-C motif", "CD molecules"	1610	protein-coding gene	gene with protein product		604738		GPR28		10229797	Standard	NM_006641		Approved	GPR-9-6, CDw199	uc003coz.2	P51686	OTTHUMG00000133450	ENST00000357632.2:c.306C>T	3.37:g.45942586C>T						CCR9_ENST00000422395.1_3'UTR|CCR9_ENST00000355983.2_Silent_p.P90P|LZTFL1_ENST00000539217.1_Intron|LZTFL1_ENST00000536047.1_Intron|CCR9_ENST00000395963.2_Silent_p.P90P	p.P102P	NM_001256369.1|NM_031200.2	NP_001243298.1|NP_112477.1	P51686	CCR9_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00118)|KIRC - Kidney renal clear cell carcinoma(197;0.0182)|Kidney(197;0.0214)	3	486	+			102					Q4VBM3|Q549E0|Q9UQQ6	Silent	SNP	ENST00000357632.2	37	c.306C>T	CCDS2732.1																																																																																				0.473	CCR9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257323.2			8	396	0	0	0	1	0	8	396					T	45942586	C	T	45942586	2	4	67	1	0	0	0	0	0	0	0	1	2948	668	24	3		3	CCR9	3	45942586	Silent	SNP	C	TCGA-EJ-5519-01A-01D-1576-08	1543299	45942586	152079844	30	3414											
FXR1	8087	broad.mit.edu	37	chr3	180675619	180675620	+	Frame_Shift_Ins	INS	-	-	A																															actaaaggaaaagtaattggINSaaaaaatggcaaagttattc																										TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr3:180675619_180675620insA	ENST00000357559.4	+	10	1277_1278	c.893_894insA	c.(892-897)ggaaaafs	p.GK298fs	FXR1_ENST00000305586.7_Frame_Shift_Ins_p.GK213fs|FXR1_ENST00000445140.2_Frame_Shift_Ins_p.GK298fs|FXR1_ENST00000468861.1_Frame_Shift_Ins_p.GK213fs|FXR1_ENST00000480918.1_Frame_Shift_Ins_p.GK285fs|FXR1_ENST00000491062.1_Frame_Shift_Ins_p.GK249fs	NM_001013438.2|NM_005087.3	NP_001013456.1|NP_005078.2	P51114	FXR1_HUMAN	fragile X mental retardation, autosomal homolog 1	298	KH 2. {ECO:0000255|PROSITE- ProRule:PRU00117}.				apoptotic process (GO:0006915)|cell differentiation (GO:0030154)|muscle organ development (GO:0007517)|negative regulation of translation (GO:0017148)	costamere (GO:0043034)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|polysome (GO:0005844)	G-quadruplex RNA binding (GO:0002151)|mRNA 3'-UTR binding (GO:0003730)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(3)|endometrium(4)|large_intestine(5)|lung(12)|skin(2)	26	all_cancers(143;6.07e-14)|Ovarian(172;0.0212)		Epithelial(37;3.05e-35)|OV - Ovarian serous cystadenocarcinoma(80;2.4e-22)			AAAGTAATTGGAAAAAATGGCA	0.342																																						ENST00000357559.4																			0				breast(3)|endometrium(4)|large_intestine(5)|lung(12)|skin(2)	26						c.(892-894)gaafs		fragile X mental retardation, autosomal homolog 1																																				SO:0001589	frameshift_variant	0				apoptosis|cell differentiation|muscle organ development	nucleolus|polysome		g.chr3:180675619_180675620insA	M67468	CCDS3238.1, CCDS33894.1, CCDS46965.1	3q28	2014-01-28			ENSG00000114416	ENSG00000114416			4023	protein-coding gene	gene with protein product		600819				7781595, 9642279	Standard	NM_005087		Approved		uc003fkq.3	P51114	OTTHUMG00000158138	ENST00000357559.4:c.899dupA	3.37:g.180675625_180675625dupA	ENSP00000350170:p.Gly298fs					FXR1_ENST00000445140.2_Frame_Shift_Ins_p.E298fs|FXR1_ENST00000480918.1_Frame_Shift_Ins_p.E285fs|FXR1_ENST00000305586.7_Frame_Shift_Ins_p.E213fs|FXR1_ENST00000491062.1_Frame_Shift_Ins_p.E249fs|FXR1_ENST00000468861.1_Frame_Shift_Ins_p.E213fs	p.E298fs	NM_001013438.2|NM_005087.3	NP_001013456.1|NP_005078.2	P51114	FXR1_HUMAN	Epithelial(37;3.05e-35)|OV - Ovarian serous cystadenocarcinoma(80;2.4e-22)		10	1277_1278	+	all_cancers(143;6.07e-14)|Ovarian(172;0.0212)		298			KH 2.		A8K9B8|Q7Z450|Q8N6R8	Frame_Shift_Ins	INS	ENST00000357559.4	37	c.893_894insA	CCDS3238.1																																																																																				0.342	FXR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350265.5			41	89						41	89	---	---	---	---	A	180675620	-	A	180675619	7	5	67	1	0	1	1	0	0	0	0	0	6115	1174	41	0	931	0	FXR1	3	180675619	Frame_Shift_Ins	INS	-	TCGA-EJ-5519-01A-01D-1576-08	134733033	180675619	17346811	31	3415											
EIF4G1	1981	broad.mit.edu	37	chr3	184040943	184040943	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	attgtggcccagacttcactCcatcctttgccaaccttggc	7	12	7	15	0	1	1	1	0	0	1	3	1	3	1	5	2	2	0	5	2	1	4			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr3:184040943C>G	ENST00000346169.2	+	14	2273	c.2002C>G	c.(2002-2004)Cca>Gca	p.P668A	EIF4G1_ENST00000411531.1_Missense_Mutation_p.P628A|EIF4G1_ENST00000342981.4_Missense_Mutation_p.P668A|EIF4G1_ENST00000350481.5_Missense_Mutation_p.P504A|EIF4G1_ENST00000382330.3_Missense_Mutation_p.P675A|EIF4G1_ENST00000441154.1_Missense_Mutation_p.P504A|EIF4G1_ENST00000434061.2_Missense_Mutation_p.P472A|EIF4G1_ENST00000319274.6_Missense_Mutation_p.P668A|EIF4G1_ENST00000392537.2_Missense_Mutation_p.P581A|EIF4G1_ENST00000414031.1_Missense_Mutation_p.P628A|EIF4G1_ENST00000424196.1_Missense_Mutation_p.P675A|EIF4G1_ENST00000352767.3_Missense_Mutation_p.P675A|EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000427845.1_Missense_Mutation_p.P581A|SNORD66_ENST00000390856.1_RNA|EIF4G1_ENST00000435046.2_Missense_Mutation_p.P472A	NM_198241.2	NP_937884	Q04637	IF4G1_HUMAN	eukaryotic translation initiation factor 4 gamma, 1	668	MIF4G. {ECO:0000255|PROSITE- ProRule:PRU00698}.				cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|cytokine-mediated signaling pathway (GO:0019221)|gene expression (GO:0010467)|insulin receptor signaling pathway (GO:0008286)|lung development (GO:0030324)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|regulation of translational initiation (GO:0006446)|response to ethanol (GO:0045471)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational initiation (GO:0006413)|viral process (GO:0016032)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)	p.P668A(1)		central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	75	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			AGACTTCACTCCATCCTTTGC	0.607																																						ENST00000342981.4																			1	Substitution - Missense(1)	p.P668A(1)	prostate(1)	central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	75						c.(2002-2004)Cca>Gca		eukaryotic translation initiation factor 4 gamma, 1							136	141	139					3																	184040943		2203	4300	6503	SO:0001583	missense	1981				insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity	g.chr3:184040943C>G	D12686	CCDS3259.1, CCDS3260.1, CCDS3261.1, CCDS46970.1, CCDS46970.2, CCDS54687.1, CCDS54688.1	3q27.1	2013-09-19			ENSG00000114867	ENSG00000114867		"Parkinson disease"	3296	protein-coding gene	gene with protein product		600495		EIF4G, EIF4F		1429670, 9372926, 21907011	Standard	NM_182917		Approved	p220, PARK18	uc010hxy.3	Q04637	OTTHUMG00000156784	ENST00000346169.2:c.2002C>G	3.37:g.184040943C>G	ENSP00000316879:p.Pro668Ala					EIF4G1_ENST00000435046.2_Missense_Mutation_p.P472A|EIF4G1_ENST00000352767.3_Missense_Mutation_p.P675A|EIF4G1_ENST00000350481.5_Missense_Mutation_p.P504A|EIF4G1_ENST00000411531.1_Missense_Mutation_p.P628A|EIF4G1_ENST00000346169.2_Missense_Mutation_p.P668A|EIF4G1_ENST00000427845.1_Missense_Mutation_p.P581A|EIF4G1_ENST00000414031.1_Missense_Mutation_p.P628A|EIF4G1_ENST00000434061.2_Missense_Mutation_p.P472A|EIF4G1_ENST00000319274.6_Missense_Mutation_p.P668A|EIF4G1_ENST00000441154.1_Missense_Mutation_p.P504A|EIF4G1_ENST00000424196.1_Missense_Mutation_p.P675A|EIF4G1_ENST00000392537.2_Missense_Mutation_p.P581A|EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000382330.3_Missense_Mutation_p.P675A	p.P668A	NM_182917.4	NP_886553.3	Q04637	IF4G1_HUMAN	Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		13	2416	+	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		668			MIF4G.		D3DNT2|D3DNT4|D3DNT5|E9PFM1|G5E9S1|O43177|O95066|Q5HYG0|Q6ZN21|Q8N102	Missense_Mutation	SNP	ENST00000346169.2	37	c.2002C>G	CCDS3259.1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.280384	0.80692	.	.	ENSG00000114867	ENST00000346169;ENST00000414031;ENST00000392537;ENST00000450424;ENST00000421110;ENST00000382330;ENST00000426123;ENST00000350481;ENST00000352767;ENST00000427845;ENST00000342981;ENST00000319274;ENST00000424196;ENST00000411531;ENST00000444861;ENST00000441154;ENST00000434061;ENST00000435046	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.55930	0.49;0.49;0.49;0.49;0.49;0.49;0.49;0.49;0.49;0.49;0.49;0.49;0.49;0.49;0.49;0.49;0.49;0.49	5.16	5.16	0.70880	.	0.000000	0.85682	D	0.000000	T	0.77267	0.4105	M	0.86864	2.845	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.999;0.999	T	0.80233	-0.1467	10	0.56958	D	0.05	-8.3827	18.8434	0.92194	0.0:1.0:0.0:0.0	.	675;668;668;675	E9PFM1;D3DNT2;Q04637;B2RU10	.;.;IF4G1_HUMAN;.	A	668;628;581;668;675;675;609;504;675;581;668;668;675;628;504;504;472;472	ENSP00000316879:P668A;ENSP00000391935:P628A;ENSP00000376320:P581A;ENSP00000391412:P668A;ENSP00000413159:P675A;ENSP00000371767:P675A;ENSP00000403269:P609A;ENSP00000317600:P504A;ENSP00000338020:P675A;ENSP00000407682:P581A;ENSP00000343450:P668A;ENSP00000323737:P668A;ENSP00000416255:P675A;ENSP00000395974:P628A;ENSP00000398145:P504A;ENSP00000399858:P504A;ENSP00000411826:P472A;ENSP00000404754:P472A	ENSP00000323737:P668A	P	+	1	0	EIF4G1	185523637	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.320000	0.79064	2.678000	0.91216	0.563000	0.77884	CCA		0.607	EIF4G1-007	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000345733.1	NM_182917		5	190	0	0	0	1	0	5	190					G	184040943	C	G	184040943	3	3	67	1	0	0	0	0	1	0	0	0	5036	855	30	5	2048	5	EIF4G1	3	184040943	Missense_Mutation	SNP	C	TCGA-EJ-5519-01A-01D-1576-08	3365324	184040943	13981487	32	3416											
DNAJB11	51726	broad.mit.edu	37	chr3	186302301	186302301	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gctccccaactttgacaacaAcaatatcaagggctctttga	13	10	6	12	0	2	2	1	2	1	0	3	2	3	2	2	1	3	2	2	1	6	3			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr3:186302301A>G	ENST00000439351.1	+	10	1864	c.935A>G	c.(934-936)aAc>aGc	p.N312S	DNAJB11_ENST00000265028.3_Missense_Mutation_p.N312S			Q9UBS4	DJB11_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 11	312					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|mRNA modification (GO:0016556)|protein folding (GO:0006457)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|membrane (GO:0016020)|nucleus (GO:0005634)		p.N312S(1)		breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|urinary_tract(2)	15	all_cancers(143;2.84e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.44e-20)	GBM - Glioblastoma multiforme(93;0.0476)		TTTGACAACAACAATATCAAG	0.433																																						ENST00000439351.1																			1	Substitution - Missense(1)	p.N312S(1)	prostate(1)	breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|urinary_tract(2)	15						c.(934-936)aAc>aGc		DnaJ (Hsp40) homolog, subfamily B, member 11							107	102	104					3																	186302301		2203	4300	6503	SO:0001583	missense	51726				protein folding	endoplasmic reticulum lumen	heat shock protein binding	g.chr3:186302301A>G	AB028859	CCDS3277.1	3q27	2011-09-02			ENSG00000090520	ENSG00000090520		"Heat shock proteins / DNAJ (HSP40)"	14889	protein-coding gene	gene with protein product		611341				10827079, 11147971	Standard	NM_016306		Approved	EDJ, HEDJ, ERdj3	uc003fqi.3	Q9UBS4	OTTHUMG00000156614	ENST00000439351.1:c.935A>G	3.37:g.186302301A>G	ENSP00000414398:p.Asn312Ser					DNAJB11_ENST00000265028.3_Missense_Mutation_p.N312S	p.N312S			Q9UBS4	DJB11_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1.44e-20)	GBM - Glioblastoma multiforme(93;0.0476)	10	1864	+	all_cancers(143;2.84e-12)|Ovarian(172;0.0339)		312					Q542Y5|Q542Y9|Q6IAQ8|Q96JC6	Missense_Mutation	SNP	ENST00000439351.1	37	c.935A>G	CCDS3277.1	.	.	.	.	.	.	.	.	.	.	A	20.4	3.975733	0.74360	.	.	ENSG00000090520	ENST00000439351;ENST00000265028	T;T	0.41065	1.01;1.01	5.98	5.98	0.97165	Chaperone DnaJ, C-terminal (1);HSP40/DnaJ peptide-binding (1);	0.080846	0.85682	D	0.000000	T	0.48259	0.1490	L	0.55103	1.725	0.80722	D	1	P	0.43412	0.806	P	0.51516	0.672	T	0.35574	-0.9783	10	0.09590	T	0.72	-20.8908	14.4143	0.67139	1.0:0.0:0.0:0.0	.	312	Q9UBS4	DJB11_HUMAN	S	312	ENSP00000414398:N312S;ENSP00000265028:N312S	ENSP00000265028:N312S	N	+	2	0	DNAJB11	187784995	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	5.649000	0.67936	2.289000	0.77006	0.533000	0.62120	AAC		0.433	DNAJB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344779.1			25	39	0	0	0	1	0	25	39					G	186302301	A	G	186302301	3	3	67	1	0	0	0	0	1	0	0	0	4616	43	2	4	969	4	DNAJB11	3	186302301	Missense_Mutation	SNP	A	TCGA-EJ-5519-01A-01D-1576-08	2261358	186302301	11720129	33	3417											
PPEF2	5470	broad.mit.edu	37	chr4	76813115	76813115	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cggtaccatctctggatcagGgctgctgccttgaaggctat	7	11	12	11	1	2	1	1	1	1	0	3	2	2	2	2	4	3	4	2	4	3	3			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr4:76813115G>A	ENST00000286719.7	-	3	428	c.72C>T	c.(70-72)gcC>gcT	p.A24A	PPEF2_ENST00000510607.1_5'UTR	NM_006239.2	NP_006230.2	O14830	PPE2_HUMAN	protein phosphatase, EF-hand calcium binding domain 2	24	IQ.				detection of stimulus involved in sensory perception (GO:0050906)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|protein dephosphorylation (GO:0006470)|regulation of JUN kinase activity (GO:0043506)|regulation of MAP kinase activity (GO:0043405)|visual perception (GO:0007601)	cilium (GO:0005929)|cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|Hsp70 protein binding (GO:0030544)|Hsp90 protein binding (GO:0051879)|iron ion binding (GO:0005506)|manganese ion binding (GO:0030145)|mitogen-activated protein kinase kinase kinase binding (GO:0031435)|protein serine/threonine phosphatase activity (GO:0004722)	p.A24A(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	50			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			TCTGGATCAGGGCTGCTGCCT	0.607																																					NSCLC(105;1359 1603 15961 44567 47947)	ENST00000286719.7																			1	Substitution - coding silent(1)	p.A24A(1)	prostate(1)	breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	50						c.(70-72)gcC>gcT		protein phosphatase, EF-hand calcium binding domain 2							60	62	61					4																	76813115		2203	4300	6503	SO:0001819	synonymous_variant	5470				detection of stimulus involved in sensory perception|negative regulation of MAPKKK cascade|negative regulation of peptidyl-threonine phosphorylation|protein dephosphorylation|visual perception	cytoplasm|photoreceptor inner segment|photoreceptor outer segment	calcium ion binding|Hsp70 protein binding|Hsp90 protein binding|iron ion binding|manganese ion binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine phosphatase activity	g.chr4:76813115G>A	AF023456	CCDS34013.1	4q21.1	2013-01-10			ENSG00000156194	ENSG00000156194		"Serine/threonine phosphatases / Protein phosphatase, catalytic subunits", "EF-hand domain containing"	9244	protein-coding gene	gene with protein product	"protein phosphatase 7, catalytic subunit, beta isozyme"	602256				9326663, 12051765	Standard	NM_006239		Approved	PPP7CB	uc003hix.3	O14830	OTTHUMG00000160915	ENST00000286719.7:c.72C>T	4.37:g.76813115G>A						PPEF2_ENST00000510607.1_5'UTR	p.A24A	NM_006239.2	NP_006230.2	O14830	PPE2_HUMAN	Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)		3	428	-			24			IQ.		O14831	Silent	SNP	ENST00000286719.7	37	c.72C>T	CCDS34013.1																																																																																				0.607	PPEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362929.1	NM_006239		19	69	0	0	0	1	0	19	69					A	76813115	G	A	76813115	2	1	67	1	0	0	0	0	0	0	0	1	12308	1219	43	3		3	PPEF2	4	76813115	Silent	SNP	G	TCGA-EJ-5519-01A-01D-1576-08		76813115	114341161	34	3418											
GHR	2690	broad.mit.edu	37	chr5	42718930	42718930	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	caccttatcatgatgcttgcCctgctactcagcagcccagt	8	11	7	15	0	2	1	2	1	0	0	2	1	2	1	3	0	6	3	3	0	2	3			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr5:42718930C>A	ENST00000230882.4	+	10	1511	c.1321C>A	c.(1321-1323)Cct>Act	p.P441T	GHR_ENST00000537449.1_Missense_Mutation_p.P254T|GHR_ENST00000357703.3_Missense_Mutation_p.P419T	NM_000163.4|NM_001242399.2|NM_001242400.2|NM_001242401.3|NM_001242402.2|NM_001242403.2|NM_001242404.2|NM_001242405.2|NM_001242406.2	NP_000154.1|NP_001229328.1|NP_001229329.1|NP_001229330.1|NP_001229331.1|NP_001229332.1|NP_001229333.1|NP_001229334.1|NP_001229335.1	P10912	GHR_HUMAN	growth hormone receptor	441					2-oxoglutarate metabolic process (GO:0006103)|activation of JAK2 kinase activity (GO:0042977)|activation of MAPK activity (GO:0000187)|allantoin metabolic process (GO:0000255)|cellular response to hormone stimulus (GO:0032870)|citrate metabolic process (GO:0006101)|creatine metabolic process (GO:0006600)|creatinine metabolic process (GO:0046449)|endocytosis (GO:0006897)|fatty acid metabolic process (GO:0006631)|growth hormone receptor signaling pathway (GO:0060396)|insulin-like growth factor receptor signaling pathway (GO:0048009)|isoleucine metabolic process (GO:0006549)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|multicellular organismal metabolic process (GO:0044236)|oxaloacetate metabolic process (GO:0006107)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|receptor internalization (GO:0031623)|regulation of multicellular organism growth (GO:0040014)|response to cycloheximide (GO:0046898)|response to estradiol (GO:0032355)|succinate metabolic process (GO:0006105)|taurine metabolic process (GO:0019530)|valine metabolic process (GO:0006573)	cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|growth hormone receptor complex (GO:0070195)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	cytokine receptor activity (GO:0004896)|growth factor binding (GO:0019838)|peptide hormone binding (GO:0017046)|proline-rich region binding (GO:0070064)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)	p.P441T(1)		NS(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39		Myeloproliferative disorder(839;0.00878)			Pegvisomant(DB00082)|Somatropin recombinant(DB00052)	TGATGCTTGCCCTGCTACTCA	0.463																																						ENST00000230882.4																			1	Substitution - Missense(1)	p.P441T(1)	prostate(1)	NS(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39						c.(1321-1323)Cct>Act		growth hormone receptor	Pegvisomant(DB00082)|Somatropin recombinant(DB00052)						73	66	68					5																	42718930		2203	4300	6503	SO:0001583	missense	2690				2-oxoglutarate metabolic process|activation of JAK2 kinase activity|activation of MAPK activity|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|endocytosis|fatty acid metabolic process|growth hormone receptor signaling pathway|insulin-like growth factor receptor signaling pathway|isoleucine metabolic process|JAK-STAT cascade|multicellular organismal metabolic process|oxaloacetate metabolic process|positive regulation of multicellular organism growth|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|receptor internalization|response to cycloheximide|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process	cell surface|extracellular space|growth hormone receptor complex|integral to plasma membrane	growth factor binding|peptide hormone binding|proline-rich region binding|protein homodimerization activity|protein kinase binding	g.chr5:42718930C>A		CCDS3940.1, CCDS56364.1, CCDS75239.1, CCDS75240.1	5p14-p12	2013-03-25			ENSG00000112964	ENSG00000112964		"Fibronectin type III domain containing"	4263	protein-coding gene	gene with protein product	"growth hormone binding protein"	600946					Standard	NM_001242460		Approved	GHBP	uc003jmt.3	P10912	OTTHUMG00000094791	ENST00000230882.4:c.1321C>A	5.37:g.42718930C>A	ENSP00000230882:p.Pro441Thr					GHR_ENST00000537449.1_Missense_Mutation_p.P254T|GHR_ENST00000357703.3_Missense_Mutation_p.P419T	p.P441T	NM_000163.4|NM_001242399.2|NM_001242400.2|NM_001242401.3|NM_001242402.2|NM_001242403.2|NM_001242404.2|NM_001242405.2|NM_001242406.2	NP_000154.1|NP_001229328.1|NP_001229329.1|NP_001229330.1|NP_001229331.1|NP_001229332.1|NP_001229333.1|NP_001229334.1|NP_001229335.1	P10912	GHR_HUMAN			10	1511	+		Myeloproliferative disorder(839;0.00878)	441					Q9HCX2	Missense_Mutation	SNP	ENST00000230882.4	37	c.1321C>A	CCDS3940.1	.	.	.	.	.	.	.	.	.	.	C	9.659	1.143744	0.21205	.	.	ENSG00000112964	ENST00000230882;ENST00000357703;ENST00000537449	T;T;T	0.33654	1.4;1.4;1.4	5.76	3.03	0.35002	.	0.292308	0.42821	D	0.000644	T	0.51702	0.1690	M	0.85197	2.74	0.09310	N	1	P	0.51653	0.947	P	0.57720	0.826	T	0.42565	-0.9444	10	0.33940	T	0.23	-1.597	5.5606	0.17142	0.1367:0.5803:0.0:0.283	.	441	P10912	GHR_HUMAN	T	441;419;254	ENSP00000230882:P441T;ENSP00000350335:P419T;ENSP00000442206:P254T	ENSP00000230882:P441T	P	+	1	0	GHR	42754687	0.006000	0.16342	0.059000	0.19551	0.469000	0.32828	0.768000	0.26590	0.464000	0.27142	0.591000	0.81541	CCT		0.463	GHR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211605.2	NM_000163		4	83	1	0	0.00909568	1	0.00946845	4	83					A	42718930	C	A	42718930	3	1	67	1	0	0	0	0	1	0	0	0	6371	623	22	5	1355	5	GHR	5	42718930	Missense_Mutation	SNP	C	TCGA-EJ-5519-01A-01D-1576-08		42718930	138196330	35	3419											
CHSY3	337876	broad.mit.edu	37	chr5	129520761	129520761	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agattcatggagaactttgaAaacatgtgtcttatcccaaa	15	12	7	7	0	2	3	1	1	1	2	3	4	3	3	1	1	2	0	1	1	5	3			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr5:129520761A>G	ENST00000305031.4	+	3	2284	c.1926A>G	c.(1924-1926)gaA>gaG	p.E642E		NM_175856.4	NP_787052.3	Q70JA7	CHSS3_HUMAN	chondroitin sulfate synthase 3	642					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi cisterna membrane (GO:0032580)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity (GO:0047238)|metal ion binding (GO:0046872)|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity (GO:0050510)	p.E642E(1)		central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|urinary_tract(1)	28		all_cancers(142;0.0227)|Breast(839;0.198)|Prostate(80;0.215)|Lung NSC(810;0.239)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.136)		AGAACTTTGAAAACATGTGTC	0.403																																						ENST00000305031.4																			1	Substitution - coding silent(1)	p.E642E(1)	prostate(1)	central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|urinary_tract(1)	28						c.(1924-1926)gaA>gaG		chondroitin sulfate synthase 3							80	82	81					5																	129520761		2203	4300	6503	SO:0001819	synonymous_variant	337876					Golgi cisterna membrane|integral to membrane	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity	g.chr5:129520761A>G	AB086062	CCDS34223.1	5q13	2013-02-19			ENSG00000198108	ENSG00000198108	2.4.1.175, 2.4.1.226	"Beta 3-glycosyltransferases", "Beta 4-glycosyltransferases"	24293	protein-coding gene	gene with protein product		609963				12907687	Standard	XM_005271982		Approved	CSS3, CHSY-2	uc003kvd.3	Q70JA7	OTTHUMG00000163043	ENST00000305031.4:c.1926A>G	5.37:g.129520761A>G							p.E642E	NM_175856.4	NP_787052.3	Q70JA7	CHSS3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.136)	3	2284	+		all_cancers(142;0.0227)|Breast(839;0.198)|Prostate(80;0.215)|Lung NSC(810;0.239)	642					B2RP97|Q76L22|Q86Y52	Silent	SNP	ENST00000305031.4	37	c.1926A>G	CCDS34223.1																																																																																				0.403	CHSY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371453.1	NM_175856		3	161	0	0	0	1	0	3	161					G	129520761	A	G	129520761	2	3	67	1	0	0	0	0	0	0	0	1	3413	11	1	4		4	CHSY3	5	129520761	Silent	SNP	A	TCGA-EJ-5519-01A-01D-1576-08	86801831	129520761	51394499	36	3420											
PCDHA12	56137	broad.mit.edu	37	chr5	140255276	140255276	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gcgtccaaaagacacggggaCcttctggaggtaaatctgca	12	7	12	10	2	2	1	0	0	2	1	3	3	3	3	2	4	1	2	2	4	4	2			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr5:140255276C>A	ENST00000398631.2	+	1	219	c.219C>A	c.(217-219)gaC>gaA	p.D73E	PCDHA1_ENST00000394633.3_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000504120.2_Intron	NM_018903.2|NM_031864.2	NP_061726.1|NP_114070.1	Q9UN75	PCDAC_HUMAN	protocadherin alpha 12	73	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.D73E(1)		NS(4)|breast(2)|cervix(1)|endometrium(19)|kidney(8)|large_intestine(8)|liver(2)|lung(25)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GACACGGGGACCTTCTGGAGG	0.622																																					Pancreas(113;759 1672 13322 24104 50104)	ENST00000398631.2																			1	Substitution - Missense(1)	p.D73E(1)	prostate(1)	NS(4)|breast(2)|cervix(1)|endometrium(19)|kidney(8)|large_intestine(8)|liver(2)|lung(25)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	78						c.(217-219)gaC>gaA									63	76	71					5																	140255276		2203	4292	6495	SO:0001583	missense	0							g.chr5:140255276C>A	AF152477	CCDS47285.1, CCDS75327.1	5q31	2010-11-26			ENSG00000251664	ENSG00000251664		"Cadherins / Protocadherins : Clustered"	8666	other	complex locus constituent	"KIAA0345-like 2"	606318				10380929	Standard	NM_018903		Approved	PCDH-ALPHA12	uc003lic.2	Q9UN75	OTTHUMG00000163366	ENST00000398631.2:c.219C>A	5.37:g.140255276C>A	ENSP00000381628:p.Asp73Glu					PCDHA6_ENST00000527624.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA2_ENST00000526136.1_Intron	p.D73E	NM_018903.2|NM_031864.1	NP_061726.1|NP_114070.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	219	+								O75278|Q2M1N8	Missense_Mutation	SNP	ENST00000398631.2	37	c.219C>A	CCDS47285.1	.	.	.	.	.	.	.	.	.	.	C	10.91	1.484642	0.26598	.	.	ENSG00000251664	ENST00000398631	T	0.25912	1.77	5.18	2.38	0.29361	Cadherin, N-terminal (1);Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.13457	0.0326	N	0.17474	0.49	0.09310	N	1	B;B	0.09022	0.001;0.002	B;B	0.15484	0.004;0.013	T	0.25082	-1.0142	9	0.52906	T	0.07	.	1.9694	0.03402	0.2356:0.4467:0.1625:0.1553	.	73;73	Q9UN75-2;Q9UN75	.;PCDAC_HUMAN	E	73	ENSP00000381628:D73E	ENSP00000381628:D73E	D	+	3	2	PCDHA12	140235460	0.000000	0.05858	0.990000	0.47175	0.923000	0.55619	-3.118000	0.00596	0.575000	0.29434	0.591000	0.81541	GAC		0.622	PCDHA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372882.2	NM_018903		59	134	1	0	5.98616e-33	1	7.03928e-33	59	134					A	140255276	C	A	140255276	3	1	67	1	0	0	0	0	1	0	0	0	11522	506	18	5	221	5	PCDHA12	5	140255276	Missense_Mutation	SNP	C	TCGA-EJ-5519-01A-01D-1576-08	10734515	140255276	40659984	37	3421											
LARP1	23367	broad.mit.edu	37	chr5	154182914	154182914	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagtttgacacactgacccCtgagccccctgtggatccca	8	8	9	16	0	0	3	0	3	0	0	1	4	1	4	5	1	1	2	5	1	0	1			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr5:154182914C>A	ENST00000336314.4	+	12	1967	c.1943C>A	c.(1942-1944)cCt>cAt	p.P648H		NM_015315.3	NP_056130.2	Q6PKG0	LARP1_HUMAN	La ribonucleoprotein domain family, member 1	725					cell proliferation (GO:0008283)|positive regulation of macroautophagy (GO:0016239)|positive regulation of translation (GO:0045727)|TOR signaling (GO:0031929)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	eukaryotic initiation factor 4E binding (GO:0008190)|mRNA 3'-UTR binding (GO:0003730)|mRNA 5'-UTR binding (GO:0048027)|poly(A) RNA binding (GO:0044822)|RNA cap binding (GO:0000339)|translation activator activity (GO:0008494)|translation initiation factor binding (GO:0031369)	p.P725H(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	33	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			ACACTGACCCCTGAGCCCCCT	0.532																																						ENST00000336314.4																			1	Substitution - Missense(1)	p.P725H(1)	prostate(1)	breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	33						c.(1942-1944)cCt>cAt		La ribonucleoprotein domain family, member 1							65	67	66					5																	154182914		2203	4300	6503	SO:0001583	missense	23367						protein binding|RNA binding	g.chr5:154182914C>A	AB018274	CCDS4328.1	5q33.2	2014-02-12			ENSG00000155506	ENSG00000155506		"La ribonucleoprotein domain containing"	29531	protein-coding gene	gene with protein product		612059				9872452, 10878606	Standard	NM_015315		Approved	LARP, KIAA0731, MGC19556	uc003lvo.4	Q6PKG0	OTTHUMG00000130191	ENST00000336314.4:c.1943C>A	5.37:g.154182914C>A	ENSP00000336721:p.Pro648His						p.P648H	NM_015315.3	NP_056130.2	Q6PKG0	LARP1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)		12	1967	+	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	725					O94836|Q8N4M2|Q8NB73|Q9UFD7	Missense_Mutation	SNP	ENST00000336314.4	37	c.1943C>A	CCDS4328.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	34|34	5.325989|5.325989	0.95708|0.95708	.|.	.|.	ENSG00000155506|ENSG00000155506	ENST00000518677|ENST00000336314;ENST00000518297;ENST00000524248	.|T;T;T	.|0.49139	.|1.57;0.79;0.89	5.8|5.8	5.8|5.8	0.92144|0.92144	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.71592|0.71592	0.3358|0.3358	M|M	0.76838|0.76838	2.35|2.35	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.81914	.|0.991;0.995	T|T	0.71978|0.71978	-0.4429|-0.4429	5|10	.|0.54805	.|T	.|0.06	-8.4457|-8.4457	20.0466|20.0466	0.97609|0.97609	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|725;648	.|Q6PKG0;Q6PKG0-3	.|LARP1_HUMAN;.	M|H	39|648;725;520	.|ENSP00000336721:P648H;ENSP00000428589:P725H;ENSP00000429904:P520H	.|ENSP00000336721:P648H	L|P	+|+	1|2	2|0	LARP1|LARP1	154163107|154163107	1.000000|1.000000	0.71417|0.71417	0.987000|0.987000	0.45799|0.45799	0.994000|0.994000	0.84299|0.84299	7.755000|7.755000	0.85180|0.85180	2.729000|2.729000	0.93468|0.93468	0.563000|0.563000	0.77884|0.77884	CTG|CCT		0.532	LARP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252509.1	NM_033551		3	59	1	0	1	1	1	3	59					A	154182914	C	A	154182914	3	1	67	1	0	0	0	0	1	0	0	0	8628	681	24	5	1989	5	LARP1	5	154182914	Missense_Mutation	SNP	C	TCGA-EJ-5519-01A-01D-1576-08	13927638	154182914	26732346	38	3422											
GRM4	2914	broad.mit.edu	37	chr6	34100899	34100899	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtgccatccttctcgatgagCgcctgcacaaaggtcagcga	9	8	11	13	3	2	1	1	1	1	0	4	3	3	1	3	1	4	1	3	1	1	1	rs199504271		TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr6:34100899C>T	ENST00000538487.2	-	2	818	c.375G>A	c.(373-375)gcG>gcA	p.A125A	GRM4_ENST00000374181.4_Silent_p.A125A|GRM4_ENST00000374177.3_Intron	NM_000841.2|NM_001256811.1	NP_000832.1|NP_001243740.1	Q14833	GRM4_HUMAN	glutamate receptor, metabotropic 4	125					activation of MAPK activity (GO:0000187)|adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|learning (GO:0007612)|neurotransmitter secretion (GO:0007269)|positive regulation of MAPK cascade (GO:0043410)|regulation of neuron apoptotic process (GO:0043523)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)	cytoplasmic vesicle (GO:0031410)|dendritic shaft (GO:0043198)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|presynaptic active zone membrane (GO:0048787)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)	p.A125A(2)		NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						TCTCGATGAGCGCCTGCACAA	0.632													C|||	1	0.000199681	0	0	5008	,	,		17760	0.001		0	False		,,,				2504	0					ENST00000374181.3																			2	Substitution - coding silent(2)	p.A125A(2)	prostate(2)	NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						c.(373-375)gcG>gcA		glutamate receptor, metabotropic 4	L-Glutamic Acid(DB00142)	C		0,4406		0,0,2203	63	52	56		375	1.8	1	6		56	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	GRM4	NM_000841.1		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		125/913	34100899	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	2914				activation of MAPK activity|inhibition of adenylate cyclase activity by metabotropic glutamate receptor signaling pathway|neuroprotection|neurotransmitter secretion|positive regulation of MAPKKK cascade	cytoplasmic vesicle|integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	g.chr6:34100899C>T	U92457	CCDS4787.1, CCDS59010.1, CCDS59011.1, CCDS59012.1, CCDS75432.1	6p21.3	2012-08-29			ENSG00000124493	ENSG00000124493		"GPCR / Class C : Glutamate receptors, metabotropic", "Glutamate receptors"	4596	protein-coding gene	gene with protein product		604100				8738157, 9473604	Standard	NM_000841		Approved	GPRC1D, mGlu4, MGLUR4	uc010jvh.4	Q14833	OTTHUMG00000014538	ENST00000538487.2:c.375G>A	6.37:g.34100899C>T						GRM4_ENST00000374177.3_Intron|GRM4_ENST00000538487.1_Silent_p.A125A	p.A125A	NM_001256810.1	NP_001243739.1	Q14833	GRM4_HUMAN			1	544	-			125					B3KVL9|B7Z1T9|B7Z1U6|F5GXM5|Q5SZ84|Q6ZMQ2	Silent	SNP	ENST00000538487.2	37	c.375G>A	CCDS4787.1																																																																																				0.632	GRM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040213.2			16	19	0	0	0	1	0	16	19					T	34100899	C	T	34100899	2	4	67	1	0	0	0	0	0	0	0	1	6799	755	27	1		1	GRM4	6	34100899	Silent	SNP	C	TCGA-EJ-5519-01A-01D-1576-08		34100899	137014168	39	3423											
CRISP2	7180	broad.mit.edu	37	chr6	49666128	49666128	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttggtcctacaccatagaCaaaatctaggatctcgtcat	12	12	6	11	1	3	1	1	0	2	1	5	2	4	2	2	2	1	0	2	2	5	4			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr6:49666128C>G	ENST00000339139.4	-	7	600	c.364G>C	c.(364-366)Gtc>Ctc	p.V122L		NM_001142407.2|NM_001142408.2|NM_001142417.2|NM_001142435.2|NM_001261822.1|NM_003296.3	NP_001135879.1|NP_001135880.1|NP_001135889.1|NP_001135907.1|NP_001248751.1|NP_003287.1	P16562	CRIS2_HUMAN	cysteine-rich secretory protein 2	122	SCP.				single organismal cell-cell adhesion (GO:0016337)	extracellular space (GO:0005615)		p.V122L(1)		kidney(1)|large_intestine(2)|lung(10)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	19	Lung NSC(77;0.0161)		KIRC - Kidney renal clear cell carcinoma(2;0.106)|Kidney(12;0.156)			ACACCATAGACAAAATCTAGG	0.413																																						ENST00000339139.4																			1	Substitution - Missense(1)	p.V122L(1)	prostate(1)	kidney(1)|large_intestine(2)|lung(10)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	19						c.(364-366)Gtc>Ctc		cysteine-rich secretory protein 2							139	127	131					6																	49666128		2203	4300	6503	SO:0001583	missense	7180					extracellular space		g.chr6:49666128C>G	X95239	CCDS4928.1	6p12.3	2009-03-12	2003-09-03	2003-09-05	ENSG00000124490	ENSG00000124490			12024	protein-coding gene	gene with protein product	"cancer/testis antigen 36"	187430	"testis specific protein 1 (probe H4-1 p3-1)"	GAPDL5, TPX1		2613236, 8665901	Standard	NM_003296		Approved	CRISP-2, CT36	uc003ozo.3	P16562	OTTHUMG00000014822	ENST00000339139.4:c.364G>C	6.37:g.49666128C>G	ENSP00000339155:p.Val122Leu						p.V122L	NM_001142407.2|NM_001142408.2|NM_001142417.2|NM_001142435.2|NM_001261822.1|NM_003296.3	NP_001135879.1|NP_001135880.1|NP_001135889.1|NP_001135907.1|NP_001248751.1|NP_003287.1	P16562	CRIS2_HUMAN	KIRC - Kidney renal clear cell carcinoma(2;0.106)|Kidney(12;0.156)		7	600	-	Lung NSC(77;0.0161)		122					A8K8M0|Q53FF2|Q5U8Z9|Q7Z7B2	Missense_Mutation	SNP	ENST00000339139.4	37	c.364G>C	CCDS4928.1	.	.	.	.	.	.	.	.	.	.	C	10.94	1.492926	0.26774	.	.	ENSG00000124490	ENST00000339139;ENST00000211238	T	0.09255	3.0	5.26	-5.82	0.02333	CAP domain (3);	3.428320	0.00481	N	0.000139	T	0.03915	0.0110	L	0.43923	1.385	0.09310	N	0.999991	B;B	0.29270	0.24;0.001	B;B	0.36766	0.232;0.001	T	0.27331	-1.0077	10	0.30854	T	0.27	.	10.2465	0.43343	0.0:0.211:0.1014:0.6876	.	122;122	Q7Z7B2;P16562	.;CRIS2_HUMAN	L	122	ENSP00000339155:V122L	ENSP00000211238:V122L	V	-	1	0	CRISP2	49774087	0.000000	0.05858	0.000000	0.03702	0.101000	0.19017	-0.980000	0.03770	-1.207000	0.02637	-0.259000	0.10710	GTC		0.413	CRISP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040870.2	NM_003296		4	182	0	0	0	1	0	4	182					G	49666128	C	G	49666128	3	3	67	1	0	0	0	0	1	0	0	0	3880	478	17	5	383	5	CRISP2	6	49666128	Missense_Mutation	SNP	C	TCGA-EJ-5519-01A-01D-1576-08	15565229	49666128	121448939	40	3424											
MDN1	23195	broad.mit.edu	37	chr6	90411737	90411737	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	catctacttttactgtgtcgGccacagtccagaaccggtcc	8	11	8	14	2	1	1	0	0	1	1	4	1	3	1	4	2	3	0	4	2	3	3			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr6:90411737G>A	ENST00000369393.3	-	54	8307	c.8192C>T	c.(8191-8193)gCc>gTc	p.A2731V	MDN1_ENST00000428876.1_Missense_Mutation_p.A2731V			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	2731					ATP catabolic process (GO:0006200)|protein complex assembly (GO:0006461)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|unfolded protein binding (GO:0051082)			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		TACTGTGTCGGCCACAGTCCA	0.488																																						ENST00000369393.3																			0				NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218						c.(8191-8193)gCc>gTc		MDN1, midasin homolog (yeast)							54	61	58					6																	90411737		2203	4300	6503	SO:0001583	missense	23195				protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding	g.chr6:90411737G>A	AF503925	CCDS5024.1	6q15	2014-01-28			ENSG00000112159	ENSG00000112159			18302	protein-coding gene	gene with protein product						9205841, 12102729	Standard	XM_005248699		Approved	KIAA0301	uc003pnn.1	Q9NU22	OTTHUMG00000015213	ENST00000369393.3:c.8192C>T	6.37:g.90411737G>A	ENSP00000358400:p.Ala2731Val					MDN1_ENST00000428876.1_Missense_Mutation_p.A2731V	p.A2731V			Q9NU22	MDN1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0193)	54	8307	-		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)	2731					O15019|Q5T794	Missense_Mutation	SNP	ENST00000369393.3	37	c.8192C>T	CCDS5024.1	.	.	.	.	.	.	.	.	.	.	G	12.45	1.941333	0.34283	.	.	ENSG00000112159	ENST00000369393;ENST00000428876	T;T	0.03441	3.93;3.93	5.8	5.8	0.92144	.	0.127169	0.56097	D	0.000035	T	0.00967	0.0032	N	0.24115	0.695	0.32812	D	0.501583	P	0.35328	0.495	B	0.30716	0.119	T	0.30851	-0.9964	10	0.02654	T	1	.	15.5232	0.75881	0.0:0.1376:0.8624:0.0	.	2731	Q9NU22	MDN1_HUMAN	V	2731	ENSP00000358400:A2731V;ENSP00000413970:A2731V	ENSP00000358400:A2731V	A	-	2	0	MDN1	90468458	1.000000	0.71417	0.981000	0.43875	0.273000	0.26683	6.040000	0.70980	2.736000	0.93811	0.591000	0.81541	GCC		0.488	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041514.2			3	53	0	0	0	1	0	3	53					A	90411737	G	A	90411737	3	1	67	1	0	0	0	0	1	0	0	0	9415	1203	42	3	8794	3	MDN1	6	90411737	Missense_Mutation	SNP	G	TCGA-EJ-5519-01A-01D-1576-08	40745609	90411737	80703330	41	3425											
SLC22A16	85413	broad.mit.edu	37	chr6	110752470	110752470	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctgccgcttcccacagccagCgatctggaaacagaggagag	11	5	12	13	2	1	2	0	0	1	2	2	5	2	3	3	2	4	1	3	2	1	1			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr6:110752470C>T	ENST00000368919.3	-	7	1491	c.1425G>A	c.(1423-1425)tcG>tcA	p.S475S	SLC22A16_ENST00000439654.1_Silent_p.S475S|SLC22A16_ENST00000330550.4_Silent_p.S441S	NM_033125.3	NP_149116.2	Q86VW1	S22AG_HUMAN	solute carrier family 22 (organic cation/carnitine transporter), member 16	475					acid secretion (GO:0046717)|amine transport (GO:0015837)|carnitine transmembrane transport (GO:1902603)|carnitine transport (GO:0015879)|cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|organic cation transport (GO:0015695)|single fertilization (GO:0007338)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	amine transmembrane transporter activity (GO:0005275)|carnitine transmembrane transporter activity (GO:0015226)|organic cation transmembrane transporter activity (GO:0015101)	p.S475S(1)		breast(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	34		all_cancers(87;0.00221)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.0485)|Colorectal(196;0.101)		OV - Ovarian serous cystadenocarcinoma(136;0.0513)|Epithelial(106;0.0921)|all cancers(137;0.115)	Doxorubicin(DB00997)|L-Carnitine(DB00583)	CCACAGCCAGCGATCTGGAAA	0.587																																						ENST00000368919.3																			1	Substitution - coding silent(1)	p.S475S(1)	prostate(1)	breast(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	34						c.(1423-1425)tcG>tcA		solute carrier family 22 (organic cation/carnitine transporter), member 16							61	56	57					6																	110752470		2203	4300	6503	SO:0001819	synonymous_variant	85413				acid secretion|cell differentiation|multicellular organismal development|single fertilization|sperm motility|spermatogenesis	integral to membrane	carnitine transporter activity	g.chr6:110752470C>T		CCDS5084.1	6q21	2013-05-22	2008-01-11		ENSG00000004809	ENSG00000004809		"Solute carriers"	20302	protein-coding gene	gene with protein product		608276	"solute carrier family 22 (organic cation transporter), member 16"			12372408, 12089149, 17473959	Standard	NM_033125		Approved	FLIPT2, CT2, OKB1, OAT6	uc003puf.3	Q86VW1	OTTHUMG00000016171	ENST00000368919.3:c.1425G>A	6.37:g.110752470C>T						SLC22A16_ENST00000330550.4_Silent_p.S441S|SLC22A16_ENST00000439654.1_Silent_p.S475S	p.S475S	NM_033125.3	NP_149116.2	Q86VW1	S22AG_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.0513)|Epithelial(106;0.0921)|all cancers(137;0.115)	7	1491	-		all_cancers(87;0.00221)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.0485)|Colorectal(196;0.101)	475					O14567|Q5JXM1|Q8IUG8|Q8IZD5|Q96M90|Q96RU0	Silent	SNP	ENST00000368919.3	37	c.1425G>A	CCDS5084.1																																																																																				0.587	SLC22A16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043428.1	NM_033125		16	23	0	0	0	1	0	16	23					T	110752470	C	T	110752470	2	4	67	1	0	0	0	0	0	0	0	1	14447	755	27	1		1	SLC22A16	6	110752470	Silent	SNP	C	TCGA-EJ-5519-01A-01D-1576-08	20340733	110752470	60362597	42	3426											
SERINC1	57515	broad.mit.edu	37	chr6	122768119	122768119	+	Frame_Shift_Del	DEL	A	A	-																															tcacttgttagagtcagtttAttaacctgactattgtttga																										TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr6:122768119delA	ENST00000339697.4	-	9	1110	c.1026delT	c.(1024-1026)aatfs	p.N342fs		NM_020755.2	NP_065806.1	Q9NRX5	SERC1_HUMAN	serine incorporator 1	342					L-serine transport (GO:0015825)|phosphatidylserine metabolic process (GO:0006658)|phospholipid biosynthetic process (GO:0008654)|positive regulation of transferase activity (GO:0051347)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	L-serine transmembrane transporter activity (GO:0015194)			endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(2)|ovary(1)|skin(1)	13				GBM - Glioblastoma multiforme(226;0.126)		GAGTCAGTTTATTAACCTGAC	0.363																																						ENST00000368454.1																			0				endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(2)|ovary(1)|skin(1)	13						c.(1024-1026)aafs		serine incorporator 1							89	85	86					6																	122768119		2203	4300	6503	SO:0001589	frameshift_variant	57515				phosphatidylserine metabolic process|phospholipid biosynthetic process|positive regulation of transferase activity|sphingolipid metabolic process	endoplasmic reticulum membrane|integral to membrane|plasma membrane	L-serine transmembrane transporter activity|protein binding	g.chr6:122768119delA	AF087902	CCDS5125.1	6q22.32	2006-02-09	2005-10-14	2005-10-14	ENSG00000111897	ENSG00000111897			13464	protein-coding gene	gene with protein product		614548	"tumor differentially expressed 2"	TDE2		10637174	Standard	NM_020755		Approved	TMS-2, TDE1L, KIAA1253	uc003pyy.1	Q9NRX5	OTTHUMG00000015487	ENST00000339697.4:c.1026delT	6.37:g.122768119delA	ENSP00000342962:p.Asn342fs					SERINC1_ENST00000339697.3_Frame_Shift_Del_p.N342fs	p.N342fs			Q9NRX5	SERC1_HUMAN		GBM - Glioblastoma multiforme(226;0.126)	11	1355	-			342					B3KY69|E1P565|O75655|Q7Z2F5|Q8TAG1|Q9NTH8|Q9ULG7	Frame_Shift_Del	DEL	ENST00000339697.4	37	c.1026delT	CCDS5125.1																																																																																				0.363	SERINC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042031.2	NM_020755		58	116						58	116	---	---	---	---	-	122768119	A	-	122768119	7	5	67	1	0	1	0	1	0	0	0	0	14079	446	16	0	343	0	SERINC1	6	122768119	Frame_Shift_Del	DEL	A	TCGA-EJ-5519-01A-01D-1576-08	12015649	122768119	48346948	43	3427											
MOXD1	26002	broad.mit.edu	37	chr6	132695782	132695782	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgccttaccgttatactcttGtcatttatgtcacatgtatg	8	18	6	9	1	3	0	2	0	1	0	3	0	3	0	2	0	3	2	2	0	5	7			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr6:132695782G>T	ENST00000367963.3	-	2	517	c.399C>A	c.(397-399)gaC>gaA	p.D133E	MOXD1_ENST00000336749.3_Missense_Mutation_p.D65E	NM_015529.2	NP_056344.2	Q6UVY6	MOXD1_HUMAN	monooxygenase, DBH-like 1	133	DOMON. {ECO:0000255|PROSITE- ProRule:PRU00246}.					endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	copper ion binding (GO:0005507)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced ascorbate as one donor, and incorporation of one atom of oxygen (GO:0016715)	p.D65E(1)|p.D133E(1)		breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(3)|skin(1)	37	Breast(56;0.0495)			OV - Ovarian serous cystadenocarcinoma(155;0.0132)|GBM - Glioblastoma multiforme(226;0.0191)		TTATACTCTTGTCATTTATGT	0.343																																						ENST00000367963.3																			2	Substitution - Missense(2)	p.D65E(1)|p.D133E(1)	prostate(2)	breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(3)|skin(1)	37						c.(397-399)gaC>gaA		monooxygenase, DBH-like 1							221	208	212					6																	132695782		2202	4298	6500	SO:0001583	missense	26002				catecholamine metabolic process	endoplasmic reticulum membrane|integral to membrane	copper ion binding|dopamine beta-monooxygenase activity	g.chr6:132695782G>T	AY007239	CCDS5152.2	6q23.2	2010-09-24			ENSG00000079931	ENSG00000079931			21063	protein-coding gene	gene with protein product		609000				9751809	Standard	XM_006715456		Approved	DKFZP564G202, MOX, dJ248E1.1	uc003qdf.3	Q6UVY6	OTTHUMG00000055853	ENST00000367963.3:c.399C>A	6.37:g.132695782G>T	ENSP00000356940:p.Asp133Glu					MOXD1_ENST00000336749.3_Missense_Mutation_p.D65E	p.D133E	NM_015529.2	NP_056344.2	Q6UVY6	MOXD1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.0132)|GBM - Glioblastoma multiforme(226;0.0191)	2	517	-	Breast(56;0.0495)		133			DOMON.		Q5THU6|Q8NC97|Q8WV49|Q9H4M6|Q9Y4U3	Missense_Mutation	SNP	ENST00000367963.3	37	c.399C>A	CCDS5152.2	.	.	.	.	.	.	.	.	.	.	G	18.09	3.546030	0.65198	.	.	ENSG00000079931	ENST00000367963;ENST00000336749	D;D	0.82255	-1.59;-1.59	5.62	2.48	0.30137	DOMON domain (3);	0.000000	0.85682	D	0.000000	D	0.90380	0.6989	M	0.94142	3.5	0.80722	D	1	D;D	0.89917	1.0;0.995	D;P	0.85130	0.997;0.841	D	0.90591	0.4537	10	0.87932	D	0	-14.1441	8.9321	0.35677	0.4144:0.0:0.5856:0.0	.	133;65	Q6UVY6;Q6UVY6-2	MOXD1_HUMAN;.	E	133;65	ENSP00000356940:D133E;ENSP00000336998:D65E	ENSP00000336998:D65E	D	-	3	2	MOXD1	132737475	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	0.949000	0.29109	0.746000	0.32786	0.655000	0.94253	GAC		0.343	MOXD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000125837.1	NM_015529		61	156	1	0	6.07242e-22	1	6.94773e-22	61	156					T	132695782	G	T	132695782	3	4	67	1	0	0	0	0	1	0	0	0	9720	1368	48	5	1486	5	MOXD1	6	132695782	Missense_Mutation	SNP	G	TCGA-EJ-5519-01A-01D-1576-08	9927663	132695782	38419285	44	3428											
NUP43	348995	broad.mit.edu	37	chr6	150048281	150048281	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggagctaatgacagactggtGaacattagcttggttactaa	13	11	11	6	0	0	3	0	2	0	1	0	4	0	4	0	3	4	3	0	3	5	5			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr6:150048281G>A	ENST00000340413.2	-	8	1043	c.967C>T	c.(967-969)Cac>Tac	p.H323Y	NUP43_ENST00000460354.2_Missense_Mutation_p.H323Y|NUP43_ENST00000367403.3_3'UTR|NUP43_ENST00000367404.4_Missense_Mutation_p.H227Y	NM_198887.1	NP_942590.1	Q8NFH3	NUP43_HUMAN	nucleoporin 43kDa	323					carbohydrate metabolic process (GO:0005975)|chromosome segregation (GO:0007059)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|kinetochore (GO:0000776)|nuclear envelope (GO:0005635)|nuclear pore outer ring (GO:0031080)		p.H323Y(1)		breast(1)|large_intestine(2)|lung(8)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	18		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;4.71e-13)|GBM - Glioblastoma multiforme(68;0.101)		ACAGACTGGTGAACATTAGCT	0.393																																						ENST00000340413.2																			1	Substitution - Missense(1)	p.H323Y(1)	prostate(1)	breast(1)|large_intestine(2)|lung(8)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	18						c.(967-969)Cac>Tac		nucleoporin 43kDa							104	95	98					6																	150048281		2203	4300	6503	SO:0001583	missense	348995				carbohydrate metabolic process|cell division|chromosome segregation|glucose transport|mitotic prometaphase|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex	protein binding	g.chr6:150048281G>A	AF514997	CCDS5218.1	6q25.1	2013-01-10			ENSG00000120253	ENSG00000120253		"WD repeat domain containing"	21182	protein-coding gene	gene with protein product		608141				12196509	Standard	XM_005266961		Approved	bA350J20.1, FLJ13287	uc003qmz.3	Q8NFH3	OTTHUMG00000015795	ENST00000340413.2:c.967C>T	6.37:g.150048281G>A	ENSP00000342262:p.His323Tyr					NUP43_ENST00000367403.3_3'UTR|NUP43_ENST00000367404.4_Missense_Mutation_p.H227Y|NUP43_ENST00000460354.2_Missense_Mutation_p.H323Y	p.H323Y	NM_198887.1	NP_942590.1	Q8NFH3	NUP43_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;4.71e-13)|GBM - Glioblastoma multiforme(68;0.101)	8	1043	-		Ovarian(120;0.0164)	323					B4E2F0|Q9H8S0	Missense_Mutation	SNP	ENST00000340413.2	37	c.967C>T	CCDS5218.1	.	.	.	.	.	.	.	.	.	.	G	7.772	0.707655	0.15239	.	.	ENSG00000120253	ENST00000340413;ENST00000460354;ENST00000367404	T;T;T	0.66815	1.99;1.99;-0.23	5.74	3.79	0.43588	WD40 repeat-like-containing domain (1);	0.136787	0.64402	D	0.000005	T	0.22781	0.0550	N	0.03608	-0.345	0.80722	D	1	B;B	0.12630	0.006;0.0	B;B	0.14023	0.01;0.001	T	0.11690	-1.0577	10	0.41790	T	0.15	-6.6814	7.6953	0.28592	0.0:0.1327:0.5591:0.3081	.	227;323	B4E2F0;Q8NFH3	.;NUP43_HUMAN	Y	323;323;227	ENSP00000342262:H323Y;ENSP00000432401:H323Y;ENSP00000356374:H227Y	ENSP00000342262:H323Y	H	-	1	0	NUP43	150089974	1.000000	0.71417	1.000000	0.80357	0.778000	0.44026	2.792000	0.47837	1.437000	0.47472	-0.234000	0.12200	CAC		0.393	NUP43-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396947.1	NM_198887		8	70	0	0	0	1	0	8	70					A	150048281	G	A	150048281	3	1	67	1	0	0	0	0	1	0	0	0	10765	1290	45	3	179	3	NUP43	6	150048281	Missense_Mutation	SNP	G	TCGA-EJ-5519-01A-01D-1576-08	17352499	150048281	21066786	45	3429											
SYNE1	23345	broad.mit.edu	37	chr6	152647137	152647137	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcttcatgactagacgaagTcttcaacaaagaaaactcag	16	8	7	10	2	4	3	3	1	1	2	4	4	4	3	0	0	2	1	0	0	6	3			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr6:152647137T>A	ENST00000367255.5	-	80	15995	c.15394A>T	c.(15394-15396)Act>Tct	p.T5132S	SYNE1_ENST00000423061.1_Missense_Mutation_p.T5061S|SYNE1_ENST00000448038.1_Missense_Mutation_p.T5061S|SYNE1_ENST00000341594.5_Intron|SYNE1_ENST00000265368.4_Missense_Mutation_p.T5132S	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	5132					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)	p.T5132S(3)		NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CTAGACGAAGTCTTCAACAAA	0.348										HNSCC(10;0.0054)																												ENST00000367255.5																			3	Substitution - Missense(3)	p.T5132S(3)	prostate(3)	NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524						c.(15394-15396)Act>Tct		spectrin repeat containing, nuclear envelope 1							114	117	116					6																	152647137		2203	4300	6503	SO:0001583	missense	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152647137T>A	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"myocyte nuclear envelope protein 1", "nuclear envelope spectrin repeat-1"	608441	"chromosome 6 open reading frame 98"	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.15394A>T	6.37:g.152647137T>A	ENSP00000356224:p.Thr5132Ser	HNSCC(10;0.0054)				SYNE1_ENST00000265368.4_Missense_Mutation_p.T5132S|SYNE1_ENST00000423061.1_Missense_Mutation_p.T5061S|SYNE1_ENST00000341594.5_Intron|SYNE1_ENST00000448038.1_Missense_Mutation_p.T5061S	p.T5132S	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	80	15995	-		Ovarian(120;0.0955)	5132					E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	c.15394A>T	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	T	9.888	1.203426	0.22121	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038	T;T;T;T	0.54866	0.65;0.65;0.55;0.65	6.07	-1.9	0.07665	.	0.496979	0.19918	N	0.103157	T	0.21801	0.0525	L	0.51422	1.61	0.80722	D	1	B;B;B;B	0.16802	0.019;0.011;0.011;0.019	B;B;B;B	0.21360	0.034;0.009;0.009;0.031	T	0.33979	-0.9847	10	0.09338	T	0.73	.	13.0479	0.58937	0.0:0.7176:0.0:0.2824	.	5132;5132;5132;5061	Q8NF91-7;Q8NF91;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.	S	5132;5061;5132;5061	ENSP00000356224:T5132S;ENSP00000396024:T5061S;ENSP00000265368:T5132S;ENSP00000390975:T5061S	ENSP00000265368:T5132S	T	-	1	0	SYNE1	152688830	0.411000	0.25384	0.966000	0.40874	0.254000	0.26022	0.203000	0.17315	-0.251000	0.09542	-0.899000	0.02877	ACT		0.348	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		46	79	0	0	0	1	0	46	79					A	152647137	T	A	152647137	3	1	67	1	0	0	0	0	1	0	0	0	15442	1667	58	5	11340	5	SYNE1	6	152647137	Missense_Mutation	SNP	T	TCGA-EJ-5519-01A-01D-1576-08	2598856	152647137	18467930	46	3430											
ABCA13	154664	broad.mit.edu	37	chr7	48318294	48318294	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcttagaaatgtctgggacTctggtcatgctgttgaatga	9	14	11	7	0	4	3	1	2	3	1	4	4	4	4	0	2	1	2	0	2	3	2			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr7:48318294T>C	ENST00000435803.1	+	18	7527	c.7503T>C	c.(7501-7503)acT>acC	p.T2501T		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	2501					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)	p.T2501T(2)|p.T2446T(1)		breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						TGTCTGGGACTCTGGTCATGC	0.428																																						ENST00000435803.1																			3	Substitution - coding silent(3)	p.T2501T(2)|p.T2446T(1)	prostate(3)	breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						c.(7501-7503)acT>acC		ATP-binding cassette, sub-family A (ABC1), member 13							189	190	189					7																	48318294		1860	4096	5956	SO:0001819	synonymous_variant	154664				transport	integral to membrane	ATP binding|ATPase activity	g.chr7:48318294T>C	AY204751	CCDS47584.1	7p12.3	2012-03-14			ENSG00000179869	ENSG00000179869		"ATP binding cassette transporters / subfamily A"	14638	protein-coding gene	gene with protein product		607807				12697998	Standard	NM_152701		Approved	FLJ33876, FLJ33951	uc003toq.2	Q86UQ4	OTTHUMG00000155840	ENST00000435803.1:c.7503T>C	7.37:g.48318294T>C							p.T2501T	NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN			18	7527	+			2501					K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Silent	SNP	ENST00000435803.1	37	c.7503T>C	CCDS47584.1																																																																																				0.428	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341964.2	NM_152701		29	378	0	0	0	1	0	29	378					C	48318294	T	C	48318294	2	2	67	1	0	0	0	0	0	0	0	1	31	1538	54	4		4	ABCA13	7	48318294	Silent	SNP	T	TCGA-EJ-5519-01A-01D-1576-08		48318294	110820369	47	3431											
PEG10	23089	broad.mit.edu	37	chr7	94293408	94293408	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcgccaaggcatggggtcTgtcatcgactactccaatgc	8	9	11	13	2	2	0	1	0	1	0	4	1	3	0	2	3	3	1	2	3	3	1			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr7:94293408T>C	ENST00000482108.1	+	2	1019	c.540T>C	c.(538-540)tcT>tcC	p.S180S	PEG10_ENST00000488574.1_Silent_p.S180S	NM_001040152.1|NM_001172438.1|NM_001184962.1	NP_001035242.1|NP_001165909.1|NP_001171891.1	Q86TG7	PEG10_HUMAN	paternally expressed 10	180	Necessary for interaction with ALK1.				apoptotic process (GO:0006915)|cell differentiation (GO:0030154)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|placenta development (GO:0001890)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.S180S(1)		NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(9)|prostate(3)|skin(1)	21	all_cancers(62;8.26e-10)|all_epithelial(64;5.59e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		STAD - Stomach adenocarcinoma(171;0.0031)			GCATGGGGTCTGTCATCGACT	0.547																																						ENST00000482108.1																			1	Substitution - coding silent(1)	p.S180S(1)	prostate(1)	NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(9)|prostate(3)|skin(1)	21						c.(538-540)tcT>tcC		paternally expressed 10							140	146	144					7																	94293408		2020	4188	6208	SO:0001819	synonymous_variant	23089				apoptosis|cell differentiation|negative regulation of transforming growth factor beta receptor signaling pathway	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding	g.chr7:94293408T>C	AB049834	CCDS55126.1, CCDS75636.1, CCDS75637.1	7q21	2007-12-07			ENSG00000242265	ENSG00000242265			14005	protein-coding gene	gene with protein product		609810				11318613, 15716091, 16093683	Standard	NM_001172437		Approved	KIAA1051, HB-1, MEF3L, RGAG3, Mar2, Mart2	uc011kie.2	Q86TG7	OTTHUMG00000155578	ENST00000482108.1:c.540T>C	7.37:g.94293408T>C						PEG10_ENST00000488574.1_Silent_p.S180S	p.S180S	NM_001040152.1|NM_001172438.1|NM_001184962.1	NP_001035242.1|NP_001165909.1|NP_001171891.1	Q86TG7	PEG10_HUMAN	STAD - Stomach adenocarcinoma(171;0.0031)		2	1019	+	all_cancers(62;8.26e-10)|all_epithelial(64;5.59e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		180			Necessary for interaction with ALK1.		Q96A68|Q9UPV1	Silent	SNP	ENST00000482108.1	37	c.540T>C	CCDS55126.1																																																																																				0.547	PEG10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340751.1	NM_015068		25	271	0	0	0	1	0	25	271					C	94293408	T	C	94293408	2	2	67	1	0	0	0	0	0	0	0	1	11719	1580	55	4		4	PEG10	7	94293408	Silent	SNP	T	TCGA-EJ-5519-01A-01D-1576-08	45975114	94293408	64845255	48	3432											
RINT1	60561	broad.mit.edu	37	chr7	105190573	105190573	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttctggatgagaagattcaGccaatattagacaaagtagg	15	11	10	5	0	2	3	1	1	1	3	2	5	2	4	1	2	1	1	1	2	6	5			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr7:105190573G>C	ENST00000257700.2	+	8	1299	c.1068G>C	c.(1066-1068)caG>caC	p.Q356H		NM_021930.4	NP_068749.3	Q6NUQ1	RINT1_HUMAN	RAD50 interactor 1	356	RINT1/TIP20. {ECO:0000255|PROSITE- ProRule:PRU00717}.				G2 DNA damage checkpoint (GO:0031572)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)		p.Q356H(1)		central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						AGAAGATTCAGCCAATATTAG	0.378																																						ENST00000257700.2																			1	Substitution - Missense(1)	p.Q356H(1)	prostate(1)	central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						c.(1066-1068)caG>caC		RAD50 interactor 1							126	127	126					7																	105190573		2203	4300	6503	SO:0001583	missense	60561				cell cycle|G2/M transition DNA damage checkpoint|protein transport|vesicle-mediated transport	endoplasmic reticulum membrane	protein binding	g.chr7:105190573G>C	AF317622	CCDS34726.1	7q22.2	2007-05-03			ENSG00000135249	ENSG00000135249			21876	protein-coding gene	gene with protein product		610089				11096100, 15029241	Standard	NM_021930		Approved	FLJ11785, RINT-1	uc003vda.1	Q6NUQ1	OTTHUMG00000157400	ENST00000257700.2:c.1068G>C	7.37:g.105190573G>C	ENSP00000257700:p.Gln356His						p.Q356H	NM_021930.4	NP_068749.3	Q6NUQ1	RINT1_HUMAN			8	1299	+			356			RINT1/TIP20.		Q75MG9|Q75MH0|Q96IW8|Q9H229|Q9HAD9	Missense_Mutation	SNP	ENST00000257700.2	37	c.1068G>C	CCDS34726.1	.	.	.	.	.	.	.	.	.	.	G	17.12	3.307028	0.60305	.	.	ENSG00000135249	ENST00000257700	T	0.42513	0.97	5.5	3.31	0.37934	.	0.000000	0.85682	D	0.000000	T	0.61565	0.2357	M	0.76838	2.35	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.64533	-0.6385	10	0.59425	D	0.04	-14.3338	10.0097	0.41979	0.2492:0.0:0.7508:0.0	.	356	Q6NUQ1	RINT1_HUMAN	H	356	ENSP00000257700:Q356H	ENSP00000257700:Q356H	Q	+	3	2	RINT1	104977809	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	3.642000	0.54367	1.454000	0.47793	0.650000	0.86243	CAG		0.378	RINT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348686.1	NM_021930		8	117	0	0	0	1	0	8	117					C	105190573	G	C	105190573	3	2	67	1	0	0	0	0	1	0	0	0	13376	962	34	5	1098	5	RINT1	7	105190573	Missense_Mutation	SNP	G	TCGA-EJ-5519-01A-01D-1576-08	10897165	105190573	53948090	49	3433											
MLL3	58508	broad.mit.edu	37	chr7	151932988	151932988	+	Nonsense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagtcctgcacctcgaggtcTccgctttcctggaaatccag	7	10	9	15	2	1	0	0	0	1	0	6	2	4	1	5	2	1	2	5	2	1	1			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr7:151932988T>A	ENST00000262189.6	-	16	2901	c.2683A>T	c.(2683-2685)Aga>Tga	p.R895*	KMT2C_ENST00000355193.2_Nonsense_Mutation_p.R895*	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	895					histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.R895*(2)									CCTCGAGGTCTCCGCTTTCCT	0.502																																						ENST00000355193.2																			2	Substitution - Nonsense(2)	p.R895*(2)	prostate(2)								c.(2683-2685)Aga>Tga		lysine (K)-specific methyltransferase 2C							33	34	34					7																	151932988		2202	4295	6497	SO:0001587	stop_gained	58508							g.chr7:151932988T>A	AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	13726	protein-coding gene	gene with protein product		606833	"myeloid/lymphoid or mixed-lineage leukemia 3"	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.2683A>T	7.37:g.151932988T>A	ENSP00000262189:p.Arg895*					KMT2C_ENST00000262189.6_Nonsense_Mutation_p.R895*	p.R895*							16	2901	-								Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Nonsense_Mutation	SNP	ENST00000262189.6	37	c.2683A>T	CCDS5931.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	43|43	10.180874|10.180874	0.99353|0.99353	.|.	.|.	ENSG00000055609|ENSG00000055609	ENST00000418673|ENST00000262189;ENST00000355193	.|.	.|.	.|.	5.1|5.1	2.62|2.62	0.31277|0.31277	.|.	.|0.000000	.|0.50627	.|D	.|0.000109	T|.	0.32315|.	0.0825|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.13045|.	-1.0524|.	4|.	.|0.02654	.|T	.|1	.|.	11.1872|11.1872	0.48664|0.48664	0.0:0.0:0.2933:0.7067|0.0:0.0:0.2933:0.7067	.|.	.|.	.|.	.|.	V|X	50|895	.|.	.|ENSP00000262189:R895X	E|R	-|-	2|1	0|2	MLL3|MLL3	151563921|151563921	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.952000|0.952000	0.60782|0.60782	1.358000|1.358000	0.34102|0.34102	0.325000|0.325000	0.23359|0.23359	0.528000|0.528000	0.53228|0.53228	GAG|AGA		0.502	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3			4	104	0	0	0	1	0	4	104					A	151932988	T	A	151932988	4	1	67	1	0	0	0	0	0	1	0	0	9622	1559	54	5	12228	5	MLL3	7	151932988	Nonsense_Mutation	SNP	T	TCGA-EJ-5519-01A-01D-1576-08	46742415	151932988	7205675	50	3434											
DPP6	1804	broad.mit.edu	37	chr7	154667617	154667617	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	cccgggattctctttccaggGatggcaccccaggcagccag	7	7	12	15	1	1	0	0	0	1	0	3	2	2	2	5	4	1	2	5	4	0	2			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr7:154667617G>A	ENST00000377770.3	+	20	2026	c.1885G>A	c.(1885-1887)Gat>Aat	p.D629N	DPP6_ENST00000332007.3_Splice_Site_p.D567N|DPP6_ENST00000404039.1_Splice_Site_p.D565N|DPP6_ENST00000427557.1_Splice_Site_p.D522N			P42658	DPP6_HUMAN	dipeptidyl-peptidase 6	629					cell death (GO:0008219)|neuronal action potential (GO:0019228)|positive regulation of potassium ion transmembrane transport (GO:1901381)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	dipeptidyl-peptidase activity (GO:0008239)|serine-type peptidase activity (GO:0008236)	p.D629N(1)|p.D565N(1)		NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	71	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	OV - Ovarian serous cystadenocarcinoma(82;0.0562)			TCTTTCCAGGGATGGCACCCC	0.632																																					NSCLC(125;1384 1783 2490 7422 34254)	ENST00000404039.1																			2	Substitution - Missense(2)	p.D629N(1)|p.D565N(1)	prostate(2)	NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	71						c.e20-1		dipeptidyl-peptidase 6							22	27	25					7																	154667617		2044	4177	6221	SO:0001630	splice_region_variant	1804				cell death|proteolysis	integral to membrane	dipeptidyl-peptidase activity|serine-type peptidase activity	g.chr7:154667617G>A	M96859	CCDS75682.1, CCDS75683.1, CCDS75684.1	7q36.2	2006-08-07	2006-01-12		ENSG00000130226	ENSG00000130226			3010	protein-coding gene	gene with protein product		126141	"dipeptidylpeptidase VI", "dipeptidylpeptidase 6"			1729689	Standard	XM_006715871		Approved	DPPX	uc003wlk.3	P42658	OTTHUMG00000151511	ENST00000377770.3:c.1884-1G>A	7.37:g.154667617G>A						DPP6_ENST00000377770.3_Splice_Site_p.D629_splice|DPP6_ENST00000332007.3_Splice_Site_p.D567_splice|DPP6_ENST00000427557.1_Splice_Site_p.D522_splice	p.D565_splice	NM_001039350.1|NM_001936.3|NM_130797.2	NP_001034439.1|NP_001927.3|NP_570629.2	P42658	DPP6_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0562)		20	2280	+	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	629						Splice_Site	SNP	ENST00000377770.3	37	c.1691_splice		.	.	.	.	.	.	.	.	.	.	G	17.50	3.404539	0.62288	.	.	ENSG00000130226	ENST00000404039;ENST00000377770;ENST00000332007;ENST00000427557	T;T;T;T	0.41758	0.99;0.99;0.99;0.99	4.92	4.92	0.64577	.	0.047472	0.85682	D	0.000000	T	0.58977	0.2160	M	0.83953	2.67	0.54753	D	0.99998	P;P;P;B	0.49358	0.923;0.466;0.899;0.336	P;B;P;B	0.52267	0.694;0.185;0.546;0.09	T	0.60131	-0.7323	10	0.22109	T	0.4	-22.3958	18.0911	0.89476	0.0:0.0:1.0:0.0	.	522;567;629;565	E9PDL2;P42658-2;P42658;E9PF59	.;.;DPP6_HUMAN;.	N	565;629;567;522	ENSP00000385578:D565N;ENSP00000367001:D629N;ENSP00000328226:D567N;ENSP00000397303:D522N	ENSP00000328226:D567N	D	+	1	0	DPP6	154298550	1.000000	0.71417	0.999000	0.59377	0.193000	0.23685	7.406000	0.80017	2.246000	0.74042	0.430000	0.28490	GAT		0.632	DPP6-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000322932.1	NM_130797	Missense_Mutation	5	13	0	0	0	1	0	5	13					A	154667617	G	A	154667617	5	1	67	1	0	0	0	0	0	0	1	0	4730	1188	41	3	2079	3	DPP6	7	154667617	Splice_Site	SNP	G	TCGA-EJ-5519-01A-01D-1576-08	2734629	154667617	4471046	51	3435											
MTMR7	9108	broad.mit.edu	37	chr8	17169089	17169089	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	accgagcacacctgagcggtCctgtcccagccatcagaaca	11	5	9	16	2	1	2	1	1	0	1	3	3	3	2	5	1	4	1	5	1	1	0			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr8:17169089C>T	ENST00000180173.5	-	9	1066	c.1032G>A	c.(1030-1032)agG>agA	p.R344R	MTMR7_ENST00000521857.1_Silent_p.R344R|MTMR7_ENST00000398099.3_5'UTR	NM_004686.4	NP_004677.3	Q9Y216	MTMR7_HUMAN	myotubularin related protein 7	344	Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}.|Substrate binding. {ECO:0000250}.				inositol phosphate dephosphorylation (GO:0046855)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|protein dephosphorylation (GO:0006470)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|membrane (GO:0016020)	protein tyrosine phosphatase activity (GO:0004725)	p.R344R(1)		breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|liver(1)|lung(8)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	32				Colorectal(111;0.112)		CCTGAGCGGTCCTGTCCCAGC	0.567																																						ENST00000180173.5																			1	Substitution - coding silent(1)	p.R344R(1)	prostate(1)	breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|liver(1)|lung(8)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	32						c.(1030-1032)agG>agA		myotubularin related protein 7							294	273	280					8																	17169089		2203	4300	6503	SO:0001819	synonymous_variant	9108						protein tyrosine phosphatase activity	g.chr8:17169089C>T	AF073482	CCDS34851.1	8p22	2011-06-09			ENSG00000003987	ENSG00000003987		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"	7454	protein-coding gene	gene with protein product		603562				9736772, 12890864	Standard	NM_004686		Approved		uc003wxm.3	Q9Y216	OTTHUMG00000163771	ENST00000180173.5:c.1032G>A	8.37:g.17169089C>T						MTMR7_ENST00000398099.3_5'UTR|MTMR7_ENST00000521857.1_Silent_p.R344R	p.R344R	NM_004686.4	NP_004677.3	Q9Y216	MTMR7_HUMAN		Colorectal(111;0.112)	9	1066	-			344			Myotubularin phosphatase.|Substrate binding (By similarity).		A1L4K9|B4DG87|Q68DX4	Silent	SNP	ENST00000180173.5	37	c.1032G>A	CCDS34851.1																																																																																				0.567	MTMR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375311.1	NM_004686		37	203	0	0	0	1	0	37	203					T	17169089	C	T	17169089	2	4	67	1	0	0	0	0	0	0	0	1	9948	854	30	3		3	MTMR7	8	17169089	Silent	SNP	C	TCGA-EJ-5519-01A-01D-1576-08		17169089	129194933	52	3436											
EBF2	64641	broad.mit.edu	37	chr8	25745379	25745379	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tcgctccatacaagcatagtCccaaacaccacttggagacc	13	7	6	15	1	0	1	0	0	0	1	3	2	2	1	4	1	3	2	4	1	4	3			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr8:25745379C>A	ENST00000520164.1	-	9	1398	c.861G>T	c.(859-861)ggG>ggT	p.G287G	EBF2_ENST00000408929.3_Silent_p.G139G|EBF2_ENST00000535548.1_Silent_p.G18G	NM_022659.3	NP_073150.2	Q9HAK2	COE2_HUMAN	early B-cell factor 2	287	IPT/TIG.				adipose tissue development (GO:0060612)|brown fat cell differentiation (GO:0050873)|cell fate determination (GO:0001709)|positive regulation of chromatin binding (GO:0035563)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.G287G(2)		endometrium(3)|kidney(2)|large_intestine(3)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	39		all_cancers(63;0.0989)|Ovarian(32;2.74e-05)|all_epithelial(46;0.0608)|Prostate(55;0.0845)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0277)|Epithelial(17;3.29e-10)|Colorectal(74;0.00383)|COAD - Colon adenocarcinoma(73;0.00738)		CAAGCATAGTCCCAAACACCA	0.488																																					Esophageal Squamous(166;1018 1046 3854 8328 13429 13634 14071 26624 32918)	ENST00000520164.1																			2	Substitution - coding silent(2)	p.G287G(2)	prostate(2)	endometrium(3)|kidney(2)|large_intestine(3)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	39						c.(859-861)ggG>ggT		early B-cell factor 2							114	107	109					8																	25745379		2002	4211	6213	SO:0001819	synonymous_variant	64641				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding	g.chr8:25745379C>A	AK021562, AK001144	CCDS43726.1	8p21.1	2007-07-26			ENSG00000221818	ENSG00000221818			19090	protein-coding gene	gene with protein product		609934				9151732	Standard	NM_022659		Approved	FLJ11500, COE2	uc003xes.2	Q9HAK2	OTTHUMG00000163838	ENST00000520164.1:c.861G>T	8.37:g.25745379C>A						EBF2_ENST00000535548.1_Silent_p.G18G|EBF2_ENST00000408929.3_Silent_p.G139G	p.G287G	NM_022659.3	NP_073150.2	Q9HAK2	COE2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0277)|Epithelial(17;3.29e-10)|Colorectal(74;0.00383)|COAD - Colon adenocarcinoma(73;0.00738)	9	1398	-		all_cancers(63;0.0989)|Ovarian(32;2.74e-05)|all_epithelial(46;0.0608)|Prostate(55;0.0845)	287			IPT/TIG.		A0PJM4|A6NMF7|F5H645|Q66VZ3|Q6DK36|Q6IS86|Q6ISA4	Silent	SNP	ENST00000520164.1	37	c.861G>T	CCDS43726.1																																																																																				0.488	EBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375886.2	NM_022659		35	67	1	0	2.20474e-14	1	2.45615e-14	35	67					A	25745379	C	A	25745379	2	1	67	1	0	0	0	0	0	0	0	1	4881	842	30	5		5	EBF2	8	25745379	Silent	SNP	C	TCGA-EJ-5519-01A-01D-1576-08	8576290	25745379	120618643	53	3437											
PRKDC	5591	broad.mit.edu	37	chr8	48769758	48769758	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatgaaagaatagtggccaCtatctcaaccaccatgtagt	14	9	7	11	0	1	2	1	1	1	1	2	2	1	2	4	1	1	1	4	1	6	3			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr8:48769758C>A	ENST00000314191.2	-	50	6621	c.6565G>T	c.(6565-6567)Gtg>Ttg	p.V2189L	PRKDC_ENST00000338368.3_Missense_Mutation_p.V2189L|PRKDC_ENST00000523565.1_5'UTR	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	2190					B cell lineage commitment (GO:0002326)|brain development (GO:0007420)|cellular protein modification process (GO:0006464)|cellular response to insulin stimulus (GO:0032869)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|ectopic germ cell programmed cell death (GO:0035234)|heart development (GO:0007507)|immunoglobulin V(D)J recombination (GO:0033152)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of protein phosphorylation (GO:0001933)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|pro-B cell differentiation (GO:0002328)|protein destabilization (GO:0031648)|regulation of circadian rhythm (GO:0042752)|response to gamma radiation (GO:0010332)|rhythmic process (GO:0048511)|signal transduction involved in mitotic G1 DNA damage checkpoint (GO:0072431)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell receptor V(D)J recombination (GO:0033153)|telomere maintenance (GO:0000723)	cytosol (GO:0005829)|DNA-dependent protein kinase-DNA ligase 4 complex (GO:0005958)|membrane (GO:0016020)|nonhomologous end joining complex (GO:0070419)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transcription factor binding (GO:0008134)	p.V2189L(1)|p.V2190L(1)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)			Caffeine(DB00201)	ATAGTGGCCACTATCTCAACC	0.458								Non-homologous end-joining																													Esophageal Squamous(79;1091 1253 12329 31680 40677)	ENST00000314191.2																			2	Substitution - Missense(2)	p.V2189L(1)|p.V2190L(1)	prostate(2)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147						c.(6565-6567)Gtg>Ttg	Non-homologous end-joining	protein kinase, DNA-activated, catalytic polypeptide							68	71	70					8																	48769758		1930	4133	6063	SO:0001583	missense	5591				cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding	g.chr8:48769758C>A		CCDS75734.1, CCDS75735.1	8q11	2014-09-17				ENSG00000253729	2.7.11.1		9413	protein-coding gene	gene with protein product		600899		HYRC, HYRC1		7638222	Standard	NM_001081640		Approved	DNPK1, p350, DNAPK, XRCC7, DNA-PKcs	uc003xqi.3	P78527		ENST00000314191.2:c.6565G>T	8.37:g.48769758C>A	ENSP00000313420:p.Val2189Leu					PRKDC_ENST00000338368.3_Missense_Mutation_p.V2189L|PRKDC_ENST00000523565.1_5'UTR	p.V2189L	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN			50	6621	-		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)	2190					P78528|Q13327|Q13337|Q14175|Q59H99|Q7Z611|Q96SE6|Q9UME3	Missense_Mutation	SNP	ENST00000314191.2	37	c.6565G>T		.	.	.	.	.	.	.	.	.	.	C	12.95	2.092476	0.36952	.	.	ENSG00000253729	ENST00000314191;ENST00000338368	T;T	0.50001	0.76;0.76	5.21	5.21	0.72293	Armadillo-like helical (1);NUC194 (1);Armadillo-type fold (1);	0.159066	0.42420	D	0.000705	T	0.36054	0.0953	L	0.28344	0.845	0.39868	D	0.973463	B;B	0.16802	0.019;0.019	B;B	0.21360	0.034;0.034	T	0.17653	-1.0362	10	0.39692	T	0.17	.	13.1207	0.59325	0.1601:0.8399:0.0:0.0	.	2189;2190	E7EUY0;P78527	.;PRKDC_HUMAN	L	2189	ENSP00000313420:V2189L;ENSP00000345182:V2189L	ENSP00000313420:V2189L	V	-	1	0	PRKDC	48932311	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	3.657000	0.54474	2.599000	0.87857	0.591000	0.81541	GTG		0.458	PRKDC-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001081640		5	24	1	0	0.0215528	1	0.0220742	5	24					A	48769758	C	A	48769758	3	1	67	1	0	0	0	0	1	0	0	0	12521	565	20	5	5970	5	PRKDC	8	48769758	Missense_Mutation	SNP	C	TCGA-EJ-5519-01A-01D-1576-08	23024379	48769758	97594264	54	3438											
CDH17	1015	broad.mit.edu	37	chr8	95158181	95158181	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	attttggaaacttcccagtcGttttgtaagcttccactgcc	8	15	7	11	1	0	0	0	0	0	0	3	1	2	1	3	1	3	3	3	1	2	7	rs147500239	byFrequency	TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr8:95158181G>A	ENST00000027335.3	-	15	2266	c.2142C>T	c.(2140-2142)aaC>aaT	p.N714N	CDH17_ENST00000450165.2_Silent_p.N714N|CDH17_ENST00000441892.2_Silent_p.N500N	NM_004063.3	NP_004054.3	Q12864	CAD17_HUMAN	cadherin 17, LI cadherin (liver-intestine)	714	Cadherin 7. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|oligopeptide transmembrane transport (GO:0035672)|oligopeptide transport (GO:0006857)|transport (GO:0006810)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|proton-dependent oligopeptide secondary active transmembrane transporter activity (GO:0005427)|transporter activity (GO:0005215)	p.N714N(1)		NS(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(4)|stomach(2)	52	Breast(36;4.65e-06)		BRCA - Breast invasive adenocarcinoma(8;0.00691)			CTTCCCAGTCGTTTTGTAAGC	0.408																																						ENST00000027335.3																			1	Substitution - coding silent(1)	p.N714N(1)	prostate(1)	NS(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(4)|stomach(2)	52						c.(2140-2142)aaC>aaT		cadherin 17, LI cadherin (liver-intestine)		G	,	0,4406		0,0,2203	84	84	84		2142,2142	-12.1	0	8	dbSNP_134	84	3,8597	3.0+/-9.4	1,1,4298	no	coding-synonymous,coding-synonymous	CDH17	NM_001144663.1,NM_004063.3	,	1,1,6501	AA,AG,GG		0.0349,0.0,0.0231	,	714/833,714/833	95158181	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	1015					integral to membrane	calcium ion binding	g.chr8:95158181G>A	X83228	CCDS6260.1	8q22.1	2010-01-26			ENSG00000079112	ENSG00000079112		"Cadherins / Major cadherins"	1756	protein-coding gene	gene with protein product		603017				9615235, 10191097	Standard	NM_004063		Approved	HPT-1, cadherin	uc003ygh.2	Q12864	OTTHUMG00000164391	ENST00000027335.3:c.2142C>T	8.37:g.95158181G>A						CDH17_ENST00000450165.2_Silent_p.N714N|CDH17_ENST00000441892.2_Silent_p.N500N	p.N714N	NM_004063.3	NP_004054.3	Q12864	CAD17_HUMAN	BRCA - Breast invasive adenocarcinoma(8;0.00691)		15	2266	-	Breast(36;4.65e-06)		714			Cadherin 7.		Q15336|Q2M2E0	Silent	SNP	ENST00000027335.3	37	c.2142C>T	CCDS6260.1																																																																																				0.408	CDH17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378560.1	NM_004063		37	108	0	0	0	1	0	37	108					A	95158181	G	A	95158181	2	1	67	1	0	0	0	0	0	0	0	1	3102	1136	40	1		1	CDH17	8	95158181	Silent	SNP	G	TCGA-EJ-5519-01A-01D-1576-08	46388423	95158181	51205841	55	3439											
ESRP1	54845	broad.mit.edu	37	chr8	95676990	95676990	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aggtttaccatggcagtcttCagatcaagatattgcaagat	13	12	9	7	0	3	3	2	0	1	3	3	3	3	3	1	2	2	3	1	2	4	5			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr8:95676990C>G	ENST00000433389.2	+	7	900	c.710C>G	c.(709-711)tCa>tGa	p.S237*	ESRP1_ENST00000454170.2_Nonsense_Mutation_p.S237*|ESRP1_ENST00000358397.5_Nonsense_Mutation_p.S237*|ESRP1_ENST00000423620.2_Nonsense_Mutation_p.S237*	NM_001034915.2|NM_017697.3	NP_001030087.2|NP_060167.2	Q6NXG1	ESRP1_HUMAN	epithelial splicing regulatory protein 1	237	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA processing (GO:0006397)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)	p.S237*(2)	ESRP1/RAF1(4)	NS(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(6)|prostate(1)|urinary_tract(2)	20						TGGCAGTCTTCAGATCAAGAT	0.373																																						ENST00000433389.2																		ESRP1/RAF1(4)	2	Substitution - Nonsense(2)	p.S237*(2)	prostate(2)	NS(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(6)|prostate(1)|urinary_tract(2)	20						c.(709-711)tCa>tGa		epithelial splicing regulatory protein 1							140	129	132					8																	95676990		1897	4121	6018	SO:0001587	stop_gained	54845				mRNA processing|regulation of RNA splicing|RNA splicing	nucleus|plasma membrane	mRNA binding|nucleotide binding	g.chr8:95676990C>G	AK000178	CCDS47895.1, CCDS47896.1, CCDS47897.1, CCDS47898.1	8q22.1	2013-02-12	2009-03-10	2009-03-10	ENSG00000104413	ENSG00000104413		"RNA binding motif (RRM) containing"	25966	protein-coding gene	gene with protein product		612959	"RNA binding motif protein 35A"	RBM35A		12477932	Standard	NM_017697		Approved	FLJ20171	uc003ygq.4	Q6NXG1	OTTHUMG00000164587	ENST00000433389.2:c.710C>G	8.37:g.95676990C>G	ENSP00000405738:p.Ser237*					ESRP1_ENST00000423620.2_Nonsense_Mutation_p.S237*|ESRP1_ENST00000358397.5_Nonsense_Mutation_p.S237*|ESRP1_ENST00000454170.2_Nonsense_Mutation_p.S237*	p.S237*	NM_001034915.2|NM_017697.3	NP_001030087.2|NP_060167.2	Q6NXG1	ESRP1_HUMAN			7	900	+			237			RRM 1.		A6NHA8|A8MPX1|E9PB47|Q2M2B0|Q499G3|Q6PJ86|Q9NXL8	Nonsense_Mutation	SNP	ENST00000433389.2	37	c.710C>G	CCDS47897.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	39|39	7.377217|7.377217	0.98245|0.98245	.|.	.|.	ENSG00000104413|ENSG00000104413	ENST00000519505|ENST00000423620;ENST00000433389;ENST00000358397;ENST00000454170;ENST00000522756;ENST00000517610	.|.	.|.	.|.	5.68|5.68	5.68|5.68	0.88126|0.88126	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|.	0.81903|.	0.4921|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.83303|.	-0.0027|.	3|.	.|0.72032	.|D	.|0.01	-4.979|-4.979	19.798|19.798	0.96494|0.96494	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	L|X	102|237;237;237;237;20;96	.|.	.|ENSP00000351168:S237X	F|S	+|+	3|2	2|0	ESRP1|ESRP1	95746166|95746166	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	7.818000|7.818000	0.86416|0.86416	2.677000|2.677000	0.91161|0.91161	0.563000|0.563000	0.77884|0.77884	TTC|TCA		0.373	ESRP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379326.1	NM_017697		32	96	0	0	0	1	0	32	96					G	95676990	C	G	95676990	4	3	67	1	0	0	0	0	0	1	0	0	5258	838	29	5	736	5	ESRP1	8	95676990	Nonsense_Mutation	SNP	C	TCGA-EJ-5519-01A-01D-1576-08	518809	95676990	50687032	56	3440											
TM7SF4	81501	broad.mit.edu	37	chr8	105361522	105361522	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtatgaaaacatctacatcAccagacaatttgttcagttt	15	13	5	8	0	3	2	2	1	1	1	3	2	3	2	1	0	2	3	1	0	5	5			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr8:105361522A>G	ENST00000297581.2	+	2	791	c.742A>G	c.(742-744)Acc>Gcc	p.T248A	DCSTAMP_ENST00000517991.1_Missense_Mutation_p.T248A|DPYS_ENST00000521601.1_Intron	NM_030788.3	NP_110415.1	Q9H295	DCSTP_HUMAN	dendrocyte expressed seven transmembrane protein	248					cellular response to interleukin-4 (GO:0071353)|cellular response to macrophage colony-stimulating factor stimulus (GO:0036006)|cellular response to tumor necrosis factor (GO:0071356)|membrane fusion (GO:0061025)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of cell growth (GO:0030308)|osteoclast differentiation (GO:0030316)|osteoclast fusion (GO:0072675)|positive regulation of bone resorption (GO:0045780)|positive regulation of macrophage fusion (GO:0034241)|positive regulation of monocyte differentiation (GO:0045657)	cell surface (GO:0009986)|endoplasmic reticulum membrane (GO:0005789)|endosome membrane (GO:0010008)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)		p.T248A(1)									CATCTACATCACCAGACAATT	0.488																																						ENST00000297581.2																			1	Substitution - Missense(1)	p.T248A(1)	prostate(1)								c.(742-744)Acc>Gcc		dendrocyte expressed seven transmembrane protein							101	96	98					8																	105361522		2203	4300	6503	SO:0001583	missense	81501				osteoclast differentiation	cell surface|integral to membrane|plasma membrane		g.chr8:105361522A>G	AF305068	CCDS6301.1, CCDS59111.1	8q22.3	2012-08-10	2012-03-27	2012-03-27	ENSG00000164935	ENSG00000164935			18549	protein-coding gene	gene with protein product	"Dendritic cells (DC)-specific transmembrane protein", "IL-Four INDuced"	605933	"transmembrane 7 superfamily member 4"	TM7SF4		11169400, 11345591	Standard	NM_030788		Approved	DC-STAMP, FIND	uc003ylx.2	Q9H295	OTTHUMG00000164890	ENST00000297581.2:c.742A>G	8.37:g.105361522A>G	ENSP00000297581:p.Thr248Ala					DPYS_ENST00000521601.1_Intron|DCSTAMP_ENST00000517991.1_Missense_Mutation_p.T248A	p.T248A	NM_030788.3	NP_110415.1	Q9H295	TM7S4_HUMAN			2	791	+			248					B7ZVW2|E7ESG0|Q2M2D5	Missense_Mutation	SNP	ENST00000297581.2	37	c.742A>G	CCDS6301.1	.	.	.	.	.	.	.	.	.	.	A	19.78	3.891341	0.72524	.	.	ENSG00000164935	ENST00000297581;ENST00000517991	T;T	0.54866	0.55;0.55	5.76	5.76	0.90799	Dendritic cell-specific transmembrane protein-like (1);	0.157172	0.56097	D	0.000025	T	0.72748	0.3499	M	0.79805	2.47	0.44447	D	0.997375	D	0.67145	0.996	D	0.70016	0.967	T	0.75216	-0.3396	9	.	.	.	-18.8036	14.6526	0.68808	1.0:0.0:0.0:0.0	.	248	Q9H295	TM7S4_HUMAN	A	248	ENSP00000297581:T248A;ENSP00000428869:T248A	.	T	+	1	0	TM7SF4	105430698	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	5.965000	0.70387	2.211000	0.71520	0.454000	0.30748	ACC		0.488	DCSTAMP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380810.1	NM_030788		11	172	0	0	0	1	0	11	172					G	105361522	A	G	105361522	3	3	67	1	0	0	0	0	1	0	0	0	15973	159	6	4	744	4	TM7SF4	8	105361522	Missense_Mutation	SNP	A	TCGA-EJ-5519-01A-01D-1576-08	9684532	105361522	41002500	57	3441											
NUDCD1	84955	broad.mit.edu	37	chr8	110293385	110293385	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	aaatcatcttcagtctgttgCcagtaatacagaggttctat	12	14	7	8	0	5	1	2	0	3	1	5	1	5	1	1	1	2	3	1	1	4	6			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr8:110293385C>G	ENST00000239690.4	-	6	1214	c.840G>C	c.(838-840)tgG>tgC	p.W280C	NUDCD1_ENST00000427660.2_Missense_Mutation_p.W251C	NM_032869.3	NP_116258.2			NudC domain containing 1									p.W280C(2)		breast(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(2)|skin(1)	25	all_neural(195;0.219)		OV - Ovarian serous cystadenocarcinoma(57;1.56e-12)			CAGTCTGTTGCCAGTAATACA	0.348																																						ENST00000239690.4																			2	Substitution - Missense(2)	p.W280C(2)	prostate(2)	breast(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(2)|skin(1)	25						c.(838-840)tgG>tgC		NudC domain containing 1							104	94	97					8																	110293385		2203	4300	6503	SO:0001583	missense	84955							g.chr8:110293385C>G	AF283302	CCDS6312.1, CCDS47910.1	8q23	2005-02-07			ENSG00000120526	ENSG00000120526			24306	protein-coding gene	gene with protein product		606109				11416219	Standard	NM_032869		Approved	CML66, FLJ14991	uc003ynb.4	Q96RS6	OTTHUMG00000164931	ENST00000239690.4:c.840G>C	8.37:g.110293385C>G	ENSP00000239690:p.Trp280Cys					NUDCD1_ENST00000427660.2_Missense_Mutation_p.W251C	p.W280C	NM_032869.3	NP_116258.2	Q96RS6	NUDC1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;1.56e-12)		6	1214	-	all_neural(195;0.219)		280			CS.			Missense_Mutation	SNP	ENST00000239690.4	37	c.840G>C	CCDS6312.1	.	.	.	.	.	.	.	.	.	.	C	18.01	3.528329	0.64860	.	.	ENSG00000120526	ENST00000239690;ENST00000427660	D;D	0.97505	-4.41;-4.41	4.95	4.95	0.65309	CS-like domain (1);CS domain (1);HSP20-like chaperone (1);	0.000000	0.85682	D	0.000000	D	0.98804	0.9597	M	0.92317	3.295	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.998;0.997	D	0.99758	1.1020	10	0.87932	D	0	-4.9007	17.5426	0.87852	0.0:1.0:0.0:0.0	.	193;280;251	Q96RS6-3;Q96RS6;Q96RS6-2	.;NUDC1_HUMAN;.	C	280;251	ENSP00000239690:W280C;ENSP00000410707:W251C	ENSP00000239690:W280C	W	-	3	0	NUDCD1	110362561	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	5.603000	0.67619	2.446000	0.82766	0.650000	0.86243	TGG		0.348	NUDCD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380996.1	NM_032869		10	140	0	0	0	1	0	10	140					G	110293385	C	G	110293385	3	3	67	1	0	0	0	0	1	0	0	0	10722	740	26	5	931	5	NUDCD1	8	110293385	Missense_Mutation	SNP	C	TCGA-EJ-5519-01A-01D-1576-08	4931863	110293385	36070637	58	3442											
ASAP1	50807	broad.mit.edu	37	chr8	131249205	131249205	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	attgcttttacagacttcttCactttctgaagggctgttct	7	18	7	9	0	4	2	1	1	3	1	4	2	4	2	0	1	2	3	0	1	2	7			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr8:131249205C>G	ENST00000518721.1	-	4	449	c.222G>C	c.(220-222)gtG>gtC	p.V74V	ASAP1_ENST00000357668.1_Silent_p.V74V	NM_001247996.1|NM_018482.3	NP_001234925.1|NP_060952.2	Q9ULH1	ASAP1_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 1	74					cilium morphogenesis (GO:0060271)|regulation of ARF GTPase activity (GO:0032312)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|zinc ion binding (GO:0008270)	p.V74V(1)		breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(22)|ovary(6)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	68						CAGACTTCTTCACTTTCTGAA	0.294																																						ENST00000357668.1																			1	Substitution - coding silent(1)	p.V74V(1)	prostate(1)	breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(22)|ovary(6)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	68						c.(220-222)gtG>gtC		ArfGAP with SH3 domain, ankyrin repeat and PH domain 1							61	59	60					8																	131249205		2203	4295	6498	SO:0001819	synonymous_variant	50807				cilium morphogenesis|filopodium assembly|regulation of ARF GTPase activity|signal transduction	cytoplasm|membrane	ARF GTPase activator activity|cytoskeletal adaptor activity|SH3 domain binding|zinc ion binding	g.chr8:131249205C>G	AB033075	CCDS6362.1, CCDS75788.1	8q24.1-q24.2	2013-01-11	2008-09-22	2008-09-22	ENSG00000153317	ENSG00000153317		"ADP-ribosylation factor GTPase activating proteins", "Pleckstrin homology (PH) domain containing", "Ankyrin repeat domain containing"	2720	protein-coding gene	gene with protein product	"centaurin, beta 4"	605953	"development and differentiation enhancing factor 1"	DDEF1		9819391	Standard	NM_018482		Approved	PAP, KIAA1249, ZG14P, CENTB4	uc003yta.2	Q9ULH1	OTTHUMG00000164772	ENST00000518721.1:c.222G>C	8.37:g.131249205C>G						ASAP1_ENST00000518721.1_Silent_p.V74V	p.V74V			Q9ULH1	ASAP1_HUMAN			3	249	-			74					B2RNV3	Silent	SNP	ENST00000518721.1	37	c.222G>C	CCDS6362.1																																																																																				0.294	ASAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380170.1	NM_018482		20	67	0	0	0	1	0	20	67					G	131249205	C	G	131249205	2	3	67	1	0	0	0	0	0	0	0	1	1010	813	29	5		5	ASAP1	8	131249205	Silent	SNP	C	TCGA-EJ-5519-01A-01D-1576-08	20955820	131249205	15114817	59	3443											
LRRC14	9684	broad.mit.edu	37	chr8	145746456	145746456	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctggcacccttccagggtcTgttgcaggcatcagcagcca	7	8	12	14	0	2	0	1	0	1	0	3	0	3	0	3	3	3	6	3	3	0	2			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr8:145746456T>G	ENST00000292524.1	+	4	1222	c.1076T>G	c.(1075-1077)cTg>cGg	p.L359R	LRRC14_ENST00000529022.1_Missense_Mutation_p.L359R	NM_001272036.1|NM_014665.2	NP_001258965.1|NP_055480.1	Q15048	LRC14_HUMAN	leucine rich repeat containing 14	359								p.L359R(1)		endometrium(1)|lung(3)|prostate(1)	5	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			TTCCAGGGTCTGTTGCAGGCA	0.597																																						ENST00000292524.1																			1	Substitution - Missense(1)	p.L359R(1)	prostate(1)	endometrium(1)|lung(3)|prostate(1)	5						c.(1075-1077)cTg>cGg		leucine rich repeat containing 14							67	61	63					8																	145746456		2203	4300	6503	SO:0001583	missense	9684							g.chr8:145746456T>G	BC011377	CCDS6432.1	8q24.3	2012-08-20			ENSG00000160959	ENSG00000160959			20419	protein-coding gene	gene with protein product						7584026	Standard	NM_001272036		Approved	KIAA0014, LRRC14A	uc003zdk.3	Q15048	OTTHUMG00000165179	ENST00000292524.1:c.1076T>G	8.37:g.145746456T>G	ENSP00000292524:p.Leu359Arg					LRRC14_ENST00000529022.1_Missense_Mutation_p.L359R	p.L359R	NM_001272036.1|NM_014665.2	NP_001258965.1|NP_055480.1	Q15048	LRC14_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)		4	1222	+	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		359					A8K0A8|D3DWM8	Missense_Mutation	SNP	ENST00000292524.1	37	c.1076T>G	CCDS6432.1	.	.	.	.	.	.	.	.	.	.	T	12.81	2.048589	0.36181	.	.	ENSG00000160959	ENST00000529022;ENST00000292524	T;T	0.13196	2.61;2.61	4.69	4.69	0.59074	.	0.076200	0.53938	D	0.000051	T	0.36580	0.0972	M	0.78049	2.395	0.39881	D	0.97363	D	0.89917	1.0	D	0.74348	0.983	T	0.32745	-0.9895	10	0.87932	D	0	.	12.1376	0.53981	0.0:0.0:0.0:1.0	.	359	Q15048	LRC14_HUMAN	R	359	ENSP00000434768:L359R;ENSP00000292524:L359R	ENSP00000292524:L359R	L	+	2	0	LRRC14	145717264	0.984000	0.35163	0.051000	0.19133	0.024000	0.10985	4.606000	0.61126	1.965000	0.57142	0.460000	0.39030	CTG		0.597	LRRC14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382494.1	NM_014665		21	46	0	0	0	1	0	21	46					G	145746456	T	G	145746456	3	3	67	1	0	0	0	0	1	0	0	0	8968	1580	55	5	1086	5	LRRC14	8	145746456	Missense_Mutation	SNP	T	TCGA-EJ-5519-01A-01D-1576-08	14497251	145746456	617566	60	3444											
LINGO2	158038	broad.mit.edu	37	chr9	27949103	27949103	+	Frame_Shift_Del	DEL	C	C	-																															ggtgccattggaaatggtgtCattggagtcggtcatgtaca																										TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr9:27949103delC	ENST00000379992.2	-	6	2016	c.1567delG	c.(1567-1569)gacfs	p.D523fs	LINGO2_ENST00000308675.3_Frame_Shift_Del_p.D523fs	NM_152570.2	NP_689783.1	Q7L985	LIGO2_HUMAN	leucine rich repeat and Ig domain containing 2	523						integral component of membrane (GO:0016021)				autonomic_ganglia(1)|breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	44	Melanoma(11;0.242)	all_neural(11;2.78e-09)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0818)|GBM - Glioblastoma multiforme(2;1.31e-34)|all cancers(2;2.37e-25)|Lung(2;7.48e-08)|LUSC - Lung squamous cell carcinoma(38;5.09e-07)|KIRC - Kidney renal clear cell carcinoma(2;0.0465)|Kidney(2;0.0604)		GAAATGGTGTCATTGGAGTCG	0.458																																						ENST00000379992.2																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	44						c.(1567-1569)acfs		leucine rich repeat and Ig domain containing 2							173	163	166					9																	27949103		2203	4300	6503	SO:0001589	frameshift_variant	158038					integral to membrane		g.chr9:27949103delC	AL353746	CCDS6524.1	9p21.2	2013-01-11	2007-02-01	2007-02-01	ENSG00000174482	ENSG00000174482		"Immunoglobulin superfamily / I-set domain containing"	21207	protein-coding gene	gene with protein product		609793	"leucine rich repeat neuronal 6C"	LRRN6C		14686891	Standard	NM_152570		Approved	LERN3	uc003zqu.2	Q7L985	OTTHUMG00000019721	ENST00000379992.2:c.1567delG	9.37:g.27949103delC	ENSP00000369328:p.Asp523fs					LINGO2_ENST00000308675.3_Frame_Shift_Del_p.D523fs	p.D523fs	NM_152570.2	NP_689783.1	Q7L985	LIGO2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (5;0.0818)|GBM - Glioblastoma multiforme(2;1.31e-34)|all cancers(2;2.37e-25)|Lung(2;7.48e-08)|LUSC - Lung squamous cell carcinoma(38;5.09e-07)|KIRC - Kidney renal clear cell carcinoma(2;0.0465)|Kidney(2;0.0604)	6	2016	-	Melanoma(11;0.242)	all_neural(11;2.78e-09)	523					A8K4K7|B2RPM5|Q6ZMD0	Frame_Shift_Del	DEL	ENST00000379992.2	37	c.1567delG	CCDS6524.1																																																																																				0.458	LINGO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051978.2	NM_152570		7	325						7	325	---	---	---	---	-	27949103	C	-	27949103	7	5	67	1	0	1	0	1	0	0	0	0	8815	826	29	0	257	0	LINGO2	9	27949103	Frame_Shift_Del	DEL	C	TCGA-EJ-5519-01A-01D-1576-08		27949103	113264328	61	3445											
TLN1	7094	broad.mit.edu	37	chr9	35711265	35711265	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tacttacctggcagctgcagCcagctgactcttgaggttag	8	11	11	11	0	1	2	0	2	1	0	1	2	1	2	2	2	6	5	2	2	3	4			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr9:35711265C>A	ENST00000314888.9	-	30	4359	c.4006G>T	c.(4006-4008)Gct>Tct	p.A1336S	TLN1_ENST00000540444.1_Missense_Mutation_p.A1336S	NM_006289.3	NP_006280.3	Q9Y490	TLN1_HUMAN	talin 1	1336	Interaction with SYNM.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-cell junction assembly (GO:0007043)|cell-substrate junction assembly (GO:0007044)|cellular component movement (GO:0006928)|cellular protein metabolic process (GO:0044267)|cortical actin cytoskeleton organization (GO:0030866)|cytoskeletal anchoring at plasma membrane (GO:0007016)|endoplasmic reticulum unfolded protein response (GO:0030968)|muscle contraction (GO:0006936)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|microtubule organizing center (GO:0005815)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	integrin binding (GO:0005178)|LIM domain binding (GO:0030274)|structural constituent of cytoskeleton (GO:0005200)|vinculin binding (GO:0017166)	p.A1336S(2)		NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6)	85	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			GCAGCTGCAGCCAGCTGACTC	0.557																																						ENST00000314888.9																			2	Substitution - Missense(2)	p.A1336S(2)	prostate(2)	NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6)	85						c.(4006-4008)Gct>Tct		talin 1							46	45	45					9																	35711265		2203	4300	6503	SO:0001583	missense	7094				axon guidance|cell adhesion|cell-cell junction assembly|cellular component movement|cytoskeletal anchoring at plasma membrane|muscle contraction|platelet activation|platelet degranulation	actin cytoskeleton|centrosome|cytosol|extracellular region|focal adhesion|intracellular membrane-bounded organelle|ruffle membrane	actin binding|insulin receptor binding|LIM domain binding|structural constituent of cytoskeleton|vinculin binding	g.chr9:35711265C>A	AB028950	CCDS35009.1	9p23-p21	2008-02-05			ENSG00000137076	ENSG00000137076			11845	protein-coding gene	gene with protein product		186745		TLN		7635475, 10610730	Standard	NM_006289		Approved	ILWEQ	uc003zxt.2	Q9Y490	OTTHUMG00000019874	ENST00000314888.9:c.4006G>T	9.37:g.35711265C>A	ENSP00000316029:p.Ala1336Ser					TLN1_ENST00000540444.1_Missense_Mutation_p.A1336S	p.A1336S	NM_006289.3	NP_006280.3	Q9Y490	TLN1_HUMAN	Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)		30	4359	-	all_epithelial(49;0.167)		1336			Interaction with SYNM.		A6NMY0|Q86YD0|Q9NZQ2|Q9UHH8|Q9UPX3	Missense_Mutation	SNP	ENST00000314888.9	37	c.4006G>T	CCDS35009.1	.	.	.	.	.	.	.	.	.	.	C	15.44	2.835695	0.50951	.	.	ENSG00000137076	ENST00000314888;ENST00000540444	T;T	0.30448	1.53;1.53	5.82	4.93	0.64822	Vinculin-binding site-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.29158	0.0725	L	0.35854	1.095	0.80722	D	1	B	0.29085	0.232	B	0.38056	0.264	T	0.04268	-1.0964	10	0.12430	T	0.62	-9.7817	15.1356	0.72562	0.0:0.9322:0.0:0.0678	.	1336	Q9Y490	TLN1_HUMAN	S	1336	ENSP00000316029:A1336S;ENSP00000442981:A1336S	ENSP00000316029:A1336S	A	-	1	0	TLN1	35701265	1.000000	0.71417	1.000000	0.80357	0.839000	0.47603	6.084000	0.71335	1.473000	0.48159	-0.254000	0.11334	GCT		0.557	TLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052353.2	NM_006289		4	65	1	0	5.18039e-06	1	5.57551e-06	4	65					A	35711265	C	A	35711265	3	1	67	1	0	0	0	0	1	0	0	0	15944	739	26	5	3731	5	TLN1	9	35711265	Missense_Mutation	SNP	C	TCGA-EJ-5519-01A-01D-1576-08	7762162	35711265	105502166	62	3446											
ANKRD20A4	728747	broad.mit.edu	37	chr9	69423761	69423762	+	Frame_Shift_Ins	INS	-	-	A																															aagacaagagatagtctcagINSaaaaaagtcattggctttag																										TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr9:69423761_69423762insA	ENST00000357336.3	+	15	2338_2339	c.2057_2058insA	c.(2056-2061)agaaaafs	p.RK686fs		NM_001098805.1	NP_001092275.1	Q4UJ75	A20A4_HUMAN	ankyrin repeat domain 20 family, member A4	686										breast(1)|large_intestine(1)|liver(1)|lung(9)|pancreas(2)|skin(2)	16						GATAGTCTCAGAAAAAAGTCAT	0.337																																						ENST00000357336.3																			0				breast(1)|large_intestine(1)|liver(1)|lung(9)|pancreas(2)|skin(2)	16						c.(2056-2058)aaafs		ankyrin repeat domain 20 family, member A4																																				SO:0001589	frameshift_variant	728747							g.chr9:69423761_69423762insA		CCDS43828.1	9q21.11	2013-01-10			ENSG00000172014	ENSG00000172014		"Ankyrin repeat domain containing"	31982	protein-coding gene	gene with protein product							Standard	NM_001098805		Approved	OTTHUMG00000066855	uc004afn.3	Q4UJ75	OTTHUMG00000066855	ENST00000357336.3:c.2063dupA	9.37:g.69423767_69423767dupA	ENSP00000349891:p.Arg686fs						p.K686fs	NM_001098805.1	NP_001092275.1	Q4UJ75	A20A4_HUMAN			15	2338_2339	+			686						Frame_Shift_Ins	INS	ENST00000357336.3	37	c.2057_2058insA	CCDS43828.1																																																																																				0.337	ANKRD20A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143287.3	NM_001098805		7	174						7	174	---	---	---	---	A	69423762	-	A	69423761	7	5	67	1	0	1	1	0	0	0	0	0	650	942	33	0	2115	0	ANKRD20A4	9	69423761	Frame_Shift_Ins	INS	-	TCGA-EJ-5519-01A-01D-1576-08	33712496	69423761	71789670	63	3447											
FAM75C1	441452	broad.mit.edu	37	chr9	90535282	90535282	+	RNA	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cccggtcctctcatgagcctAtggaagatgctgctcccatt	7	11	9	14	1	1	2	1	1	1	1	4	3	3	3	4	2	3	2	4	2	2	2			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr9:90535282A>G	ENST00000602681.1	+	0	1186							P0DKV0	S31C1_HUMAN	SPATA31 subfamily C, member 1						cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											TCATGAGCCTATGGAAGATGC	0.582																																						ENST00000602681.1																			0																				107	115	113					9																	90535282		692	1591	2283			0							g.chr9:90535282A>G	AK093374		9q22.1	2014-03-18	2012-10-12	2012-10-12	ENSG00000230246	ENSG00000230246			27846	other	unknown			"family with sequence similarity 75, member C1"	FAM75C1			Standard	NM_001145124		Approved	FLJ36055	uc010mqi.3	P0DKV0	OTTHUMG00000020160		9.37:g.90535282A>G														0	1186	+									RNA	SNP	ENST00000602681.1	37																																																																																						0.582	SPATA31C1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000467313.1	NM_001145124		4	226	0	0	0	1	0	4	226					G	90535282	A	G	90535282	1	3	67	0	1	0	0	0	0	0	0	0	5623	449	16	4		4	FAM75C1	9	90535282	RNA	SNP	A	TCGA-EJ-5519-01A-01D-1576-08	21111521	90535282	50678149	64	3448											
OR1J1	347168	broad.mit.edu	37	chr9	125239347	125239347	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tctcagactgtaaatgaatgGgttcaacatgggagtgactg	12	11	12	6	0	2	3	2	2	1	1	3	4	2	4	0	2	1	2	0	2	4	2			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr9:125239347G>T	ENST00000259357.2	-	1	888	c.859C>A	c.(859-861)Cca>Aca	p.P287T	RP11-542K23.9_ENST00000412262.2_RNA	NM_001004451.1	NP_001004451.1	Q8NGS3	OR1J1_HUMAN	olfactory receptor, family 1, subfamily J, member 1	287						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.P287T(1)		endometrium(1)|large_intestine(4)|lung(6)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	16						TAAATGAATGGGTTCAACATG	0.418																																						ENST00000259357.2																			1	Substitution - Missense(1)	p.P287T(1)	prostate(1)	endometrium(1)|large_intestine(4)|lung(6)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	16						c.(859-861)Cca>Aca		olfactory receptor, family 1, subfamily J, member 1							144	135	138					9																	125239347		2203	4300	6503	SO:0001583	missense	347168				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:125239347G>T	AL353767	CCDS35120.1	9q33.2	2013-09-20			ENSG00000136834	ENSG00000136834		"GPCR / Class A : Olfactory receptors"	8208	protein-coding gene	gene with protein product							Standard	NM_001004451		Approved	hg32	uc011lyu.2	Q8NGS3	OTTHUMG00000020603	ENST00000259357.2:c.859C>A	9.37:g.125239347G>T	ENSP00000259357:p.Pro287Thr						p.P287T	NM_001004451.1	NP_001004451.1	Q8NGS3	OR1J1_HUMAN			1	888	-			287					A3KFL8|Q6IF10|Q96R88	Missense_Mutation	SNP	ENST00000259357.2	37	c.859C>A	CCDS35120.1	.	.	.	.	.	.	.	.	.	.	G	13.06	2.124787	0.37533	.	.	ENSG00000136834	ENST00000259357	T	0.63913	-0.07	4.93	4.93	0.64822	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000020	T	0.81927	0.4926	M	0.87038	2.855	0.35285	D	0.781694	D	0.89917	1.0	D	0.78314	0.991	D	0.88199	0.2882	10	0.87932	D	0	.	17.5239	0.87794	0.0:0.0:1.0:0.0	.	287	Q8NGS3	OR1J1_HUMAN	T	287	ENSP00000259357:P287T	ENSP00000259357:P287T	P	-	1	0	OR1J1	124279168	1.000000	0.71417	0.999000	0.59377	0.219000	0.24729	5.200000	0.65158	2.754000	0.94517	0.597000	0.82753	CCA		0.418	OR1J1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053931.1			63	151	1	0	7.59065e-32	1	8.84415e-32	63	151					T	125239347	G	T	125239347	3	4	67	1	0	0	0	0	1	0	0	0	10959	1232	43	5	112	5	OR1J1	9	125239347	Missense_Mutation	SNP	G	TCGA-EJ-5519-01A-01D-1576-08	34704065	125239347	15974084	65	3449											
PFKP	5214	broad.mit.edu	37	chr10	3176719	3176719	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agaaactttggaaccaaaatCtctgccagagctatggagtg	14	9	10	8	0	1	2	0	0	1	2	2	4	1	4	2	2	4	1	2	2	5	2			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr10:3176719C>G	ENST00000381125.4	+	20	2143	c.2067C>G	c.(2065-2067)atC>atG	p.I689M	PFKP_ENST00000381075.2_Missense_Mutation_p.I681M|PFKP_ENST00000381072.1_Missense_Mutation_p.I107M	NM_002627.4	NP_002618.1	Q01813	PFKAP_HUMAN	phosphofructokinase, platelet	689	C-terminal regulatory PFK domain 2.				carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|fructose 6-phosphate metabolic process (GO:0006002)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	6-phosphofructokinase activity (GO:0003872)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein complex binding (GO:0032403)	p.I689M(2)|p.I681M(1)		breast(2)|central_nervous_system(4)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(1;0.000975)|all cancers(11;0.00351)|Epithelial(11;0.142)		GAACCAAAATCTCTGCCAGAG	0.512																																						ENST00000381075.2																			3	Substitution - Missense(3)	p.I689M(2)|p.I681M(1)	prostate(3)	breast(2)|central_nervous_system(4)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31						c.(2041-2043)atC>atG		phosphofructokinase, platelet							144	158	153					10																	3176719		2203	4300	6503	SO:0001583	missense	5214				glycolysis	6-phosphofructokinase complex	6-phosphofructokinase activity|ATP binding|metal ion binding|protein binding	g.chr10:3176719C>G	AK092597	CCDS7059.1, CCDS55698.1	10p15.3-p15.2	2006-08-25			ENSG00000067057	ENSG00000067057	2.7.1.11		8878	protein-coding gene	gene with protein product	"Phosphofructokinase, platelet type"	171840					Standard	NM_002627		Approved	PFK-C, PFKF	uc001igp.3	Q01813	OTTHUMG00000017556	ENST00000381125.4:c.2067C>G	10.37:g.3176719C>G	ENSP00000370517:p.Ile689Met					PFKP_ENST00000381125.4_Missense_Mutation_p.I689M|PFKP_ENST00000381072.1_Missense_Mutation_p.I107M	p.I681M	NM_001242339.1	NP_001229268.1	Q01813	K6PP_HUMAN		GBM - Glioblastoma multiforme(1;0.000975)|all cancers(11;0.00351)|Epithelial(11;0.142)	22	2267	+			689					B3KS15|Q5VSR7|Q5VSR8	Missense_Mutation	SNP	ENST00000381125.4	37	c.2043C>G	CCDS7059.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	6.177|6.177	0.400878|0.400878	0.11696|0.11696	.|.	.|.	ENSG00000067057|ENSG00000067057	ENST00000381125;ENST00000397834;ENST00000381075;ENST00000381072|ENST00000433193	T;T;T|.	0.79454|.	-1.27;-1.27;-1.27|.	5.05|5.05	-5.95|-5.95	0.02241|0.02241	Phosphofructokinase domain (2);|.	0.161414|.	0.53938|.	N|.	0.000056|.	T|T	0.06826|0.06826	0.0174|0.0174	N|N	0.00179|0.00179	-1.91|-1.91	0.47037|0.47037	D|D	0.999295|0.999295	B;B;B|.	0.18166|.	0.026;0.026;0.025|.	B;B;B|.	0.25614|.	0.062;0.062;0.057|.	T|T	0.33111|0.33111	-0.9881|-0.9881	10|5	0.05833|.	T|.	0.94|.	.|.	3.1054|3.1054	0.06340|0.06340	0.0976:0.189:0.2094:0.504|0.0976:0.189:0.2094:0.504	.|.	681;681;689|.	B3KS15;Q5VSR7;Q01813|.	.;.;K6PP_HUMAN|.	M|C	689;678;681;107|42	ENSP00000370517:I689M;ENSP00000370465:I681M;ENSP00000370462:I107M|.	ENSP00000370462:I107M|.	I|S	+|+	3|2	3|0	PFKP|PFKP	3166719|3166719	0.001000|0.001000	0.12720|0.12720	0.641000|0.641000	0.29422|0.29422	0.969000|0.969000	0.65631|0.65631	-1.878000|-1.878000	0.01630|0.01630	-1.190000|-1.190000	0.02698|0.02698	0.655000|0.655000	0.94253|0.94253	ATC|TCT		0.512	PFKP-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046454.1	NM_002627		82	212	0	0	0	1	0	82	212					G	3176719	C	G	3176719	3	3	67	1	0	0	0	0	1	0	0	0	11766	903	32	5	2145	5	PFKP	10	3176719	Missense_Mutation	SNP	C	TCGA-EJ-5519-01A-01D-1576-08		3176719	132358028	66	3450											
DCLRE1C	64421	broad.mit.edu	37	chr10	14951253	14951253	+	Frame_Shift_Del	DEL	A	A	-																															attgaaaatacctcagggtgAaaagtttccgggtatggaac																										TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr10:14951253delA	ENST00000378278.2	-	14	1270	c.1233delT	c.(1231-1233)tttfs	p.F411fs	DCLRE1C_ENST00000378258.1_Frame_Shift_Del_p.F291fs|DCLRE1C_ENST00000378254.1_Frame_Shift_Del_p.F291fs|DCLRE1C_ENST00000378289.4_Intron|DCLRE1C_ENST00000378246.2_Frame_Shift_Del_p.F296fs|DCLRE1C_ENST00000396817.2_Frame_Shift_Del_p.F291fs|DCLRE1C_ENST00000378255.1_Frame_Shift_Del_p.F291fs|DCLRE1C_ENST00000357717.2_Frame_Shift_Del_p.F296fs|DCLRE1C_ENST00000378249.1_Frame_Shift_Del_p.F296fs|DCLRE1C_ENST00000492201.1_5'UTR|DCLRE1C_ENST00000378242.1_Frame_Shift_Del_p.F64fs|DCLRE1C_ENST00000453695.2_Frame_Shift_Del_p.F291fs			Q96SD1	DCR1C_HUMAN	DNA cross-link repair 1C	411					B cell differentiation (GO:0030183)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA recombination (GO:0006310)|double-strand break repair (GO:0006302)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|response to ionizing radiation (GO:0010212)|telomere maintenance (GO:0000723)	nucleus (GO:0005634)	5'-3' exonuclease activity (GO:0008409)|single-stranded DNA endodeoxyribonuclease activity (GO:0000014)			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)	17						CCTCAGGGTGAAAAGTTTCCG	0.448								Non-homologous end-joining																														ENST00000453695.2																			0				breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)	17						c.(871-873)ttfs	Non-homologous end-joining	DNA cross-link repair 1C							58	63	61					10																	14951253		2203	4300	6503	SO:0001589	frameshift_variant	64421				DNA recombination	nucleus	5'-3' exonuclease activity|single-stranded DNA specific endodeoxyribonuclease activity	g.chr10:14951253delA	BC022254	CCDS7105.1, CCDS31149.1, CCDS31150.1	10p13	2014-09-17	2010-06-24		ENSG00000152457	ENSG00000152457			17642	protein-coding gene	gene with protein product	"PSO2 homolog (S. cerevisiae)"	605988	"severe combined immunodeficiency, type a (Athabascan)", "DNA cross-link repair 1C (PSO2 homolog, S. cerevisiae)"	SCIDA		11336668, 9443881	Standard	XM_005252558		Approved	ARTEMIS, FLJ11360, SNM1C, A-SCID	uc001inn.3	Q96SD1	OTTHUMG00000017716	ENST00000378278.2:c.1233delT	10.37:g.14951253delA	ENSP00000367527:p.Phe411fs					DCLRE1C_ENST00000378258.1_Frame_Shift_Del_p.F291fs|DCLRE1C_ENST00000378242.1_Frame_Shift_Del_p.F64fs|DCLRE1C_ENST00000378289.4_Intron|DCLRE1C_ENST00000492201.1_5'UTR|DCLRE1C_ENST00000378246.2_Frame_Shift_Del_p.F296fs|DCLRE1C_ENST00000378254.1_Frame_Shift_Del_p.F291fs|DCLRE1C_ENST00000396817.2_Frame_Shift_Del_p.F291fs|DCLRE1C_ENST00000378249.1_Frame_Shift_Del_p.F296fs|DCLRE1C_ENST00000357717.2_Frame_Shift_Del_p.F296fs|DCLRE1C_ENST00000378278.2_Frame_Shift_Del_p.F411fs|DCLRE1C_ENST00000378255.1_Frame_Shift_Del_p.F291fs	p.F291fs	NM_001033855.1	NP_001029027.1	Q96SD1	DCR1C_HUMAN			14	1317	-			411					D3DRT6|Q1HCL2|Q5JSR4|Q5JSR5|Q5JSR7|Q5JSR8|Q5JSR9|Q5JSS0|Q5JSS7|Q6PK14|Q8N101|Q8N132|Q8TBW9|Q9BVW9|Q9HAM4	Frame_Shift_Del	DEL	ENST00000378278.2	37	c.873delT	CCDS31149.1																																																																																				0.448	DCLRE1C-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046934.1	NM_022487		17	112						17	112	---	---	---	---	-	14951253	A	-	14951253	7	5	67	1	0	1	0	1	0	0	0	0	4296	243	9	0	849	0	DCLRE1C	10	14951253	Frame_Shift_Del	DEL	A	TCGA-EJ-5519-01A-01D-1576-08	11774534	14951253	120583494	67	3451											
OR52D1	390066	broad.mit.edu	37	chr11	5510672	5510672	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagctctgagtacctgtggcTcccacattggcatcatcctg	8	11	9	13	0	2	1	1	1	1	0	4	1	4	1	3	2	2	4	3	2	2	2			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr11:5510672T>G	ENST00000322641.5	+	1	758	c.736T>G	c.(736-738)Tcc>Gcc	p.S246A	HBG2_ENST00000380259.2_Intron|HBG2_ENST00000380252.1_Intron|AC104389.28_ENST00000415970.1_RNA|HBE1_ENST00000380237.1_Intron	NM_001005163.2	NP_001005163.1	Q9H346	O52D1_HUMAN	olfactory receptor, family 52, subfamily D, member 1	246					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S246A(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	22		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;3.46e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TACCTGTGGCTCCCACATTGG	0.498																																						ENST00000322641.5																			1	Substitution - Missense(1)	p.S246A(1)	prostate(1)	central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	22						c.(736-738)Tcc>Gcc		olfactory receptor, family 52, subfamily D, member 1							200	176	184					11																	5510672		2201	4297	6498	SO:0001583	missense	390066				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5510672T>G	BK004276	CCDS31384.1	11p15.4	2012-08-09			ENSG00000181609	ENSG00000181609		"GPCR / Class A : Olfactory receptors"	15212	protein-coding gene	gene with protein product							Standard	NM_001005163		Approved		uc010qzg.2	Q9H346	OTTHUMG00000066895	ENST00000322641.5:c.736T>G	11.37:g.5510672T>G	ENSP00000326232:p.Ser246Ala					HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron|AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380259.2_Intron	p.S246A	NM_001005163.2	NP_001005163.1	Q9H346	O52D1_HUMAN		Epithelial(150;3.46e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	758	+		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)	246					B9EGY9|Q6IFI6	Missense_Mutation	SNP	ENST00000322641.5	37	c.736T>G	CCDS31384.1	.	.	.	.	.	.	.	.	.	.	T	12.37	1.916353	0.33815	.	.	ENSG00000181609	ENST00000322641	T	0.38887	1.11	5.58	3.13	0.36017	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000005	T	0.39655	0.1086	M	0.62154	1.92	0.29513	N	0.854094	B	0.19200	0.034	B	0.19391	0.025	T	0.39014	-0.9634	10	0.38643	T	0.18	.	11.8209	0.52238	0.0:0.0:0.2761:0.7239	.	246	Q9H346	O52D1_HUMAN	A	246	ENSP00000326232:S246A	ENSP00000326232:S246A	S	+	1	0	OR52D1	5467248	0.048000	0.20356	0.935000	0.37517	0.581000	0.36288	0.370000	0.20433	1.110000	0.41699	0.533000	0.62120	TCC		0.498	OR52D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143372.1	NM_001005163		7	184	0	0	0	1	0	7	184					G	5510672	T	G	5510672	3	3	67	1	0	0	0	0	1	0	0	0	11114	1551	54	5	738	5	OR52D1	11	5510672	Missense_Mutation	SNP	T	TCGA-EJ-5519-01A-01D-1576-08		5510672	129495844	68	3452											
UBQLNL	143630	broad.mit.edu	37	chr11	5537038	5537038	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attatcaagaagaaggcgggAaacttctgggttctgctgca	12	10	12	7	1	3	2	1	0	2	2	3	3	3	3	0	3	3	3	0	3	5	3			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr11:5537038A>T	ENST00000380184.1	-	1	897	c.634T>A	c.(634-636)Tcc>Acc	p.S212T	HBG2_ENST00000380259.2_Intron	NM_145053.4	NP_659490.4	Q8IYU4	UBQLN_HUMAN	ubiquilin-like	212								p.S212T(1)		endometrium(1)|kidney(3)|large_intestine(9)|lung(13)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	33		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.92e-09)|BRCA - Breast invasive adenocarcinoma(625;0.136)		AGAAGGCGGGAAACTTCTGGG	0.468																																						ENST00000380184.1																			1	Substitution - Missense(1)	p.S212T(1)	prostate(1)	endometrium(1)|kidney(3)|large_intestine(9)|lung(13)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	33						c.(634-636)Tcc>Acc		ubiquilin-like							127	130	129					11																	5537038		2201	4297	6498	SO:0001583	missense	143630							g.chr11:5537038A>T	AK127987	CCDS31385.1	11p15.4	2014-02-12			ENSG00000175518	ENSG00000175518		"Ubiquilin family"	28294	protein-coding gene	gene with protein product							Standard	NM_145053		Approved	MGC20470, MGC26958	uc001maz.4	Q8IYU4	OTTHUMG00000066903	ENST00000380184.1:c.634T>A	11.37:g.5537038A>T	ENSP00000369531:p.Ser212Thr					HBG2_ENST00000380259.2_Intron	p.S212T	NM_145053.4	NP_659490.4	Q8IYU4	UBQLN_HUMAN		Epithelial(150;1.92e-09)|BRCA - Breast invasive adenocarcinoma(625;0.136)	1	897	-		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)	212					Q6ZRU1|Q96EK3|Q96MB0	Missense_Mutation	SNP	ENST00000380184.1	37	c.634T>A	CCDS31385.1	.	.	.	.	.	.	.	.	.	.	A	9.341	1.063143	0.19987	.	.	ENSG00000175518	ENST00000380184	T	0.52295	0.67	5.05	1.27	0.21489	.	0.813653	0.10698	N	0.644459	T	0.40498	0.1119	M	0.63428	1.95	0.09310	N	1	P	0.37781	0.608	B	0.35550	0.205	T	0.31308	-0.9948	10	0.52906	T	0.07	-11.8938	5.2546	0.15540	0.5129:0.3891:0.098:0.0	.	212	Q8IYU4	UBQLN_HUMAN	T	212	ENSP00000369531:S212T	ENSP00000369531:S212T	S	-	1	0	UBQLNL	5493614	0.308000	0.24509	0.048000	0.18961	0.005000	0.04900	0.682000	0.25335	0.380000	0.24823	-0.256000	0.11100	TCC		0.468	UBQLNL-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143386.1	NM_145053		9	287	0	0	0	1	0	9	287					T	5537038	A	T	5537038	3	4	67	1	0	0	0	0	1	0	0	0	16897	246	9	5	797	5	UBQLNL	11	5537038	Missense_Mutation	SNP	A	TCGA-EJ-5519-01A-01D-1576-08	26366	5537038	129469478	69	3453											
MRGPRX1	259249	broad.mit.edu	37	chr11	18955603	18955603	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aataagacttccctgtccacGtggatccataaaaataggaa	16	9	7	9	1	0	1	0	0	0	1	3	3	3	3	3	2	0	0	3	2	7	4	rs368710591	byFrequency	TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr11:18955603G>T	ENST00000302797.3	-	1	953	c.729C>A	c.(727-729)caC>caA	p.H243Q	RP11-583F24.8_ENST00000528646.1_RNA|MRGPRX1_ENST00000526914.1_5'Flank	NM_147199.3	NP_671732.3	Q96LB2	MRGX1_HUMAN	MAS-related GPR, member X1	243					acute-phase response (GO:0006953)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.H243Q(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|pancreas(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						CCCTGTCCACGTGGATCCATA	0.478																																						ENST00000302797.3																			1	Substitution - Missense(1)	p.H243Q(1)	prostate(1)	central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|pancreas(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						c.(727-729)caC>caA		MAS-related GPR, member X1							74	67	70					11																	18955603		2194	4287	6481	SO:0001583	missense	259249				acute-phase response	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr11:18955603G>T		CCDS7846.1	11p15.1	2013-10-10			ENSG00000170255	ENSG00000170255		"GPCR / Class A : Orphans"	17962	protein-coding gene	gene with protein product		607227				11551509	Standard	NM_147199		Approved	MRGX1	uc001mpg.3	Q96LB2	OTTHUMG00000162655	ENST00000302797.3:c.729C>A	11.37:g.18955603G>T	ENSP00000305766:p.His243Gln						p.H243Q	NM_147199.3	NP_671732.3	Q96LB2	MRGX1_HUMAN			1	953	-			243					Q4V9L2|Q8TDD8|Q8TDD9	Missense_Mutation	SNP	ENST00000302797.3	37	c.729C>A	CCDS7846.1	.	.	.	.	.	.	.	.	.	.	.	0.024	-1.389621	0.01185	.	.	ENSG00000170255	ENST00000302797	T	0.37058	1.22	2.28	-4.56	0.03431	GPCR, rhodopsin-like superfamily (1);	4.966210	0.00166	N	0.000004	T	0.14270	0.0345	N	0.04820	-0.15	0.09310	N	1	B	0.18741	0.03	B	0.20955	0.032	T	0.10359	-1.0633	10	0.12103	T	0.63	.	0.9567	0.01387	0.3604:0.284:0.2109:0.1448	.	243	Q96LB2	MRGX1_HUMAN	Q	243	ENSP00000305766:H243Q	ENSP00000305766:H243Q	H	-	3	2	MRGPRX1	18912179	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-8.075000	0.00025	-1.690000	0.01432	-0.424000	0.05967	CAC		0.478	MRGPRX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369913.1	NM_147199		12	126	1	0	2.80697e-09	1	3.04689e-09	12	126					T	18955603	G	T	18955603	3	4	67	1	0	0	0	0	1	0	0	0	9766	1136	40	5	243	5	MRGPRX1	11	18955603	Missense_Mutation	SNP	G	TCGA-EJ-5519-01A-01D-1576-08	13418565	18955603	116050913	70	3454											
KIAA0652	9776	broad.mit.edu	37	chr11	46670720	46670720	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agctggaaatatggtgtcttGaaatgaatgaaaagtaagtg	16	11	12	2	0	1	3	0	3	1	0	1	4	1	4	0	2	1	2	0	2	7	3			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr11:46670720G>A	ENST00000434074.1	+	5	993	c.304G>A	c.(304-306)Gaa>Aaa	p.E102K	ATG13_ENST00000312040.4_Missense_Mutation_p.E102K|ATG13_ENST00000524625.1_Missense_Mutation_p.E102K|ATG13_ENST00000359513.4_Missense_Mutation_p.E102K|ATG13_ENST00000528494.1_Missense_Mutation_p.E102K|ATG13_ENST00000529655.1_Missense_Mutation_p.E102K|ATG13_ENST00000451945.1_Missense_Mutation_p.E102K|ATG13_ENST00000530500.1_Missense_Mutation_p.E23K|ATG13_ENST00000526508.1_Missense_Mutation_p.E102K	NM_001205120.1	NP_001192049.1	O75143	ATG13_HUMAN	autophagy related 13	102					autophagic vacuole assembly (GO:0000045)	ATG1/UKL1 signaling complex (GO:0034273)|cytosol (GO:0005829)|pre-autophagosomal structure (GO:0000407)|ULK1-ATG13-FIP200 complex (GO:0070969)	protein kinase binding (GO:0019901)	p.E102K(2)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(5)|prostate(1)|skin(1)	15						ATGGTGTCTTGAAATGAATGA	0.353																																						ENST00000434074.1																			2	Substitution - Missense(2)	p.E102K(2)	prostate(2)	NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(5)|prostate(1)|skin(1)	15						c.(304-306)Gaa>Aaa		autophagy related 13							264	236	245					11																	46670720		2201	4299	6500	SO:0001583	missense	9776				autophagic vacuole assembly	cytosol|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex	protein binding	g.chr11:46670720G>A	AB014552	CCDS7921.1, CCDS44582.1, CCDS55760.1, CCDS55761.1	11p11.2	2014-02-12	2012-06-06	2010-06-29	ENSG00000175224	ENSG00000175224			29091	protein-coding gene	gene with protein product		615088	"KIAA0652", "ATG13 autophagy related 13 homolog (S. cerevisiae)"	KIAA0652		15169610, 18339812, 17204848	Standard	NM_001205120		Approved		uc001nda.3	O75143	OTTHUMG00000166538	ENST00000434074.1:c.304G>A	11.37:g.46670720G>A	ENSP00000400642:p.Glu102Lys					ATG13_ENST00000451945.1_Missense_Mutation_p.E102K|ATG13_ENST00000529655.1_Missense_Mutation_p.E102K|ATG13_ENST00000530500.1_Missense_Mutation_p.E23K|ATG13_ENST00000528494.1_Missense_Mutation_p.E102K|ATG13_ENST00000524625.1_Missense_Mutation_p.E102K|ATG13_ENST00000526508.1_Missense_Mutation_p.E102K|ATG13_ENST00000312040.4_Missense_Mutation_p.E102K|ATG13_ENST00000359513.4_Missense_Mutation_p.E102K	p.E102K	NM_001205120.1	NP_001192049.1	O75143	ATG13_HUMAN			5	993	+			102					B4DFI4|D3DQQ1|D3DQQ2|E9PQZ8|Q53EN6|Q9BRL3|Q9H8B0	Missense_Mutation	SNP	ENST00000434074.1	37	c.304G>A	CCDS44582.1	.	.	.	.	.	.	.	.	.	.	G	34	5.319424	0.95682	.	.	ENSG00000175224	ENST00000395549;ENST00000434074;ENST00000312040;ENST00000451945;ENST00000529655;ENST00000533325;ENST00000530500;ENST00000526508;ENST00000524625;ENST00000359513;ENST00000528494;ENST00000526078	.	.	.	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	T	0.59445	0.2194	N	0.14661	0.345	0.80722	D	1	D;P;D;D	0.64830	0.963;0.931;0.994;0.991	P;P;P;P	0.60117	0.67;0.815;0.869;0.801	T	0.57528	-0.7796	9	0.29301	T	0.29	-20.6275	20.1174	0.97942	0.0:0.0:1.0:0.0	.	23;102;102;102	B4DFI4;O75143;E9PQZ8;O75143-2	.;ATG13_HUMAN;.;.	K	102;102;102;102;102;102;23;102;102;102;102;102	.	ENSP00000310321:E102K	E	+	1	0	ATG13	46627296	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.357000	0.97099	2.771000	0.95319	0.591000	0.81541	GAA		0.353	ATG13-202	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000390300.2	NM_014741		37	88	0	0	0	1	0	37	88					A	46670720	G	A	46670720	3	1	67	1	0	0	0	0	1	0	0	0	8188	1291	45	3	318	3	KIAA0652	11	46670720	Missense_Mutation	SNP	G	TCGA-EJ-5519-01A-01D-1576-08	27715117	46670720	88335796	71	3455											
FAM111A	63901	broad.mit.edu	37	chr11	58920573	58920574	+	Frame_Shift_Ins	INS	-	-	A																															tattggccatccatatggagINSaaaaaaagcagattgatgct																										TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr11:58920573_58920574insA	ENST00000528737.1	+	5	4250_4251	c.1432_1433insA	c.(1432-1434)gaafs	p.E478fs	FAM111A_ENST00000420244.1_Frame_Shift_Ins_p.E478fs|FAM111A_ENST00000361723.3_Frame_Shift_Ins_p.E478fs|FAM111A_ENST00000531147.1_Frame_Shift_Ins_p.E478fs|FAM111A_ENST00000533703.1_Frame_Shift_Ins_p.E478fs			Q96PZ2	F111A_HUMAN	family with sequence similarity 111, member A	478	Interaction with SV40 large T antigen.				defense response to virus (GO:0051607)|DNA replication (GO:0006260)|negative regulation of viral genome replication (GO:0045071)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	catalytic activity (GO:0003824)			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22		all_epithelial(135;0.139)				TCCATATGGAGAAAAAAAGCAG	0.406																																						ENST00000528737.1																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22						c.(1432-1434)aaafs		family with sequence similarity 111, member A																																				SO:0001589	frameshift_variant	63901				proteolysis		serine-type endopeptidase activity	g.chr11:58920573_58920574insA	AK092953	CCDS7973.1	11q12.1	2014-03-13				ENSG00000166801			24725	protein-coding gene	gene with protein product		615292				11572484, 23996431, 23684011	Standard	NM_022074		Approved	FLJ22794, KIAA1895	uc001nnq.3	Q96PZ2		ENST00000528737.1:c.1439dupA	11.37:g.58920580_58920580dupA	ENSP00000434435:p.Glu478fs					FAM111A_ENST00000361723.3_Frame_Shift_Ins_p.K478fs|FAM111A_ENST00000533703.1_Frame_Shift_Ins_p.K478fs|FAM111A_ENST00000531147.1_Frame_Shift_Ins_p.K478fs|FAM111A_ENST00000420244.1_Frame_Shift_Ins_p.K478fs	p.K478fs			Q96PZ2	F111A_HUMAN			5	4250_4251	+		all_epithelial(135;0.139)	478					A8K5Y8|Q5RKS9|Q5XKM2|Q68DK9|Q6IPR7|Q9H5Y1	Frame_Shift_Ins	INS	ENST00000528737.1	37	c.1432_1433insA	CCDS7973.1																																																																																				0.406	FAM111A-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393975.1	NM_022074		72	165						72	165	---	---	---	---	A	58920574	-	A	58920573	7	5	67	1	0	1	1	0	0	0	0	0	5399	943	33	0	1438	0	FAM111A	11	58920573	Frame_Shift_Ins	INS	-	TCGA-EJ-5519-01A-01D-1576-08	12249853	58920573	76085943	72	3456											
GANAB	23193	broad.mit.edu	37	chr11	62402415	62402416	+	Frame_Shift_Ins	INS	-	-	GGAC																															ctgtcaagatgatcttgtagINSggtccctcagccatggttaa																										TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr11:62402415_62402416insGGAC	ENST00000356638.3	-	5	453_454	c.437_438insGTCC	c.(436-438)cccfs	p.-146fs	GANAB_ENST00000346178.4_Frame_Shift_Ins_p.-146fs|GANAB_ENST00000534422.1_5'UTR|GANAB_ENST00000534779.1_Frame_Shift_Ins_p.-32fs|GANAB_ENST00000540933.1_Frame_Shift_Ins_p.-49fs	NM_198334.1	NP_938148.1	Q14697	GANAB_HUMAN	glucosidase, alpha; neutral AB						cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|glucosidase II complex (GO:0017177)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)|glucan 1,3-alpha-glucosidase activity (GO:0033919)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|ovary(3)|skin(2)|urinary_tract(3)	35					Miglitol(DB00491)	TGATCTTGTAGGGTCCCTCAGC	0.48																																					Melanoma(23;1005 1074 15747 18937)	ENST00000346178.4																			0				central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|ovary(3)|skin(2)|urinary_tract(3)	35						c.(436-438)ctafs		glucosidase, alpha; neutral AB																																				SO:0001589	frameshift_variant	23193				post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|Golgi apparatus|melanosome	carbohydrate binding|glucan 1,3-alpha-glucosidase activity|protein binding	g.chr11:62402415_62402416insGGAC	AF144074	CCDS8026.1, CCDS41656.1, CCDS60817.1, CCDS60818.1	11q12.3	2012-10-02			ENSG00000089597	ENSG00000089597	3.2.1.20		4138	protein-coding gene	gene with protein product		104160				10764838, 6342981	Standard	NM_198335		Approved	GluII, G2AN, KIAA0088	uc001nua.4	Q14697	OTTHUMG00000167696	ENST00000356638.3:c.437_438insGTCC	11.37:g.62402415_62402416insGGAC	ENSP00000349053:p.Pro146fs					GANAB_ENST00000534422.1_5'UTR|GANAB_ENST00000540933.1_Frame_Shift_Ins_p.L49fs|GANAB_ENST00000356638.3_Frame_Shift_Ins_p.L146fs|GANAB_ENST00000534779.1_Frame_Shift_Ins_p.L32fs	p.L146fs	NM_001278192.1|NM_198335.2	NP_001265121.1|NP_938149.2	Q14697	GANAB_HUMAN			5	452_453	-			146					A6NC20|Q8WTS9|Q9P0X0	Frame_Shift_Ins	INS	ENST00000356638.3	37	c.437_438insGTCC	CCDS8026.1																																																																																				0.48	GANAB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000395689.1	NM_198334		46	136						46	136	---	---	---	---	GGAC	62402416	-	GGAC	62402415	7	5	67	1	0	1	1	0	0	0	0	0	6233	987	35	0	2546	0	GANAB	11	62402415	Frame_Shift_Ins	INS	-	TCGA-EJ-5519-01A-01D-1576-08	3481842	62402415	72604101	73	3457											
PDE2A	5138	broad.mit.edu	37	chr11	72295684	72295684	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cgcggtagaaaagcggatggGcatatgcgtcagggatgttc	10	8	16	7	4	1	1	1	0	0	1	2	3	1	3	0	4	2	3	0	4	4	3			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr11:72295684G>T	ENST00000334456.5	-	18	1693	c.1448C>A	c.(1447-1449)gCc>gAc	p.A483D	PDE2A_ENST00000418754.2_Missense_Mutation_p.A368D|RP11-169D4.2_ENST00000545254.1_RNA|PDE2A_ENST00000540345.1_Missense_Mutation_p.A474D|PDE2A_ENST00000444035.2_Missense_Mutation_p.A474D|PDE2A_ENST00000544570.1_Missense_Mutation_p.A476D|PDE2A_ENST00000376450.3_Missense_Mutation_p.A227D	NM_002599.4	NP_002590.1	O00408	PDE2A_HUMAN	phosphodiesterase 2A, cGMP-stimulated	483	GAF 2.				blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cAMP catabolic process (GO:0006198)|cAMP-mediated signaling (GO:0019933)|cellular response to cGMP (GO:0071321)|cellular response to drug (GO:0035690)|cellular response to granulocyte macrophage colony-stimulating factor stimulus (GO:0097011)|cellular response to macrophage colony-stimulating factor stimulus (GO:0036006)|cellular response to mechanical stimulus (GO:0071260)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cGMP catabolic process (GO:0046069)|cGMP-mediated signaling (GO:0019934)|establishment of endothelial barrier (GO:0061028)|metabolic process (GO:0008152)|monocyte differentiation (GO:0030224)|negative regulation of cAMP biosynthetic process (GO:0030818)|negative regulation of protein import into nucleus, translocation (GO:0033159)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of vascular permeability (GO:0043116)|positive regulation of inflammatory response (GO:0050729)|positive regulation of vascular permeability (GO:0043117)|protein targeting to mitochondrion (GO:0006626)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|mitochondrial matrix (GO:0005759)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	calcium channel activity (GO:0005262)|cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity (GO:0004118)|cyclic-nucleotide phosphodiesterase activity (GO:0004112)|drug binding (GO:0008144)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|TPR domain binding (GO:0030911)	p.A483D(1)		breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	36			BRCA - Breast invasive adenocarcinoma(5;3.55e-05)		Caffeine(DB00201)|Tofisopam(DB08811)	AAGCGGATGGGCATATGCGTC	0.642																																						ENST00000334456.5																			1	Substitution - Missense(1)	p.A483D(1)	prostate(1)	breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	36						c.(1447-1449)gCc>gAc		phosphodiesterase 2A, cGMP-stimulated	Sildenafil(DB00203)|Sulindac(DB00605)						50	49	49					11																	72295684		2200	4293	6493	SO:0001583	missense	5138				platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity|metal ion binding	g.chr11:72295684G>T	U67733	CCDS8216.1, CCDS44670.1, CCDS53678.1, CCDS73345.1	11q13.1-q14.1	2008-05-14			ENSG00000186642	ENSG00000186642	3.1.4.17	"Phosphodiesterases"	8777	protein-coding gene	gene with protein product		602658				9210593	Standard	NM_002599		Approved		uc010rrc.2	O00408	OTTHUMG00000102045	ENST00000334456.5:c.1448C>A	11.37:g.72295684G>T	ENSP00000334910:p.Ala483Asp					PDE2A_ENST00000544570.1_Missense_Mutation_p.A476D|PDE2A_ENST00000540345.1_Missense_Mutation_p.A474D|PDE2A_ENST00000444035.2_Missense_Mutation_p.A474D|PDE2A_ENST00000376450.3_Missense_Mutation_p.A227D|RP11-169D4.2_ENST00000545254.1_RNA|PDE2A_ENST00000418754.2_Missense_Mutation_p.A368D	p.A483D	NM_002599.4	NP_002590.1	O00408	PDE2A_HUMAN	BRCA - Breast invasive adenocarcinoma(5;3.55e-05)		18	1693	-			483			GAF 2.		B2R646|B3KRV5|E9PGI1|F6W5Z0|Q5J791|Q5J792|Q5J793|Q6ZMR1	Missense_Mutation	SNP	ENST00000334456.5	37	c.1448C>A	CCDS8216.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.985186	0.74474	.	.	ENSG00000186642	ENST00000334456;ENST00000376450;ENST00000444035;ENST00000429363;ENST00000544570;ENST00000418754;ENST00000540345;ENST00000475807	T;T;T;T;T;T;T	0.64803	-0.12;-0.12;-0.12;-0.12;-0.12;-0.12;-0.12	5.51	5.51	0.81932	GAF (2);	0.071636	0.56097	D	0.000026	T	0.48786	0.1519	N	0.17838	0.53	0.58432	D	0.999998	P;B;B;P;B;P	0.40302	0.712;0.279;0.279;0.71;0.279;0.558	B;B;B;B;B;B	0.35859	0.212;0.17;0.135;0.127;0.17;0.099	T	0.53830	-0.8383	10	0.48119	T	0.1	.	17.9914	0.89170	0.0:0.0:1.0:0.0	.	368;483;474;476;483;227	E9PEF1;O00408;E9PGI1;F6W5Z0;B2R646;Q6ZMR1	.;PDE2A_HUMAN;.;.;.;.	D	483;227;474;552;476;368;474;307	ENSP00000334910:A483D;ENSP00000365633:A227D;ENSP00000411657:A474D;ENSP00000442256:A476D;ENSP00000410310:A368D;ENSP00000446399:A474D;ENSP00000439077:A307D	ENSP00000334910:A483D	A	-	2	0	PDE2A	71973332	1.000000	0.71417	0.998000	0.56505	0.993000	0.82548	7.798000	0.85924	2.579000	0.87056	0.561000	0.74099	GCC		0.642	PDE2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219839.2	NM_002599		6	26	1	0	0.000673444	1	0.000712728	6	26					T	72295684	G	T	72295684	3	4	67	1	0	0	0	0	1	0	0	0	11636	1203	42	5	1433	5	PDE2A	11	72295684	Missense_Mutation	SNP	G	TCGA-EJ-5519-01A-01D-1576-08	9893269	72295684	62710832	74	3458											
ODZ4	26011	broad.mit.edu	37	chr11	78516453	78516453	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tggccctgggggtctcgcagTtggtgcctccccatcccaca	4	9	12	16	1	1	0	0	0	1	0	4	0	3	0	5	4	1	2	5	4	0	1			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr11:78516453T>A	ENST00000278550.7	-	15	2525	c.2063A>T	c.(2062-2064)aAc>aTc	p.N688I		NM_001098816.2	NP_001092286.2	Q6N022	TEN4_HUMAN	teneurin transmembrane protein 4	688	EGF-like 4. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cardiac cell fate specification (GO:0060912)|cardiac muscle cell proliferation (GO:0060038)|central nervous system myelin formation (GO:0032289)|gastrulation with mouth forming second (GO:0001702)|neuron development (GO:0048666)|positive regulation of gastrulation (GO:2000543)|positive regulation of myelination (GO:0031643)|positive regulation of oligodendrocyte differentiation (GO:0048714)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|nucleus (GO:0005634)	protein homodimerization activity (GO:0042803)	p.N688I(2)									GGTCTCGCAGTTGGTGCCTCC	0.617																																						ENST00000278550.7																			2	Substitution - Missense(2)	p.N688I(2)	prostate(2)								c.(2062-2064)aAc>aTc		teneurin transmembrane protein 4							47	55	52					11																	78516453		2133	4234	6367	SO:0001583	missense	26011							g.chr11:78516453T>A	AB037723	CCDS44688.1	11q13	2012-10-02	2012-10-02	2012-10-02		ENSG00000149256			29945	protein-coding gene	gene with protein product		610084	"odz, odd Oz/ten-m homolog 4 (Drosophila)"	ODZ4		12000766, 10625539	Standard	NM_001098816		Approved	KIAA1302, Ten-M4	uc001ozl.4	Q6N022		ENST00000278550.7:c.2063A>T	11.37:g.78516453T>A	ENSP00000278550:p.Asn688Ile						p.N688I	NM_001098816.2	NP_001092286.2					15	2525	-								A6ND26|Q7Z3C7|Q96MS6|Q9P2P4|Q9Y4S2	Missense_Mutation	SNP	ENST00000278550.7	37	c.2063A>T	CCDS44688.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	15.79|15.79	2.936538|2.936538	0.52972|0.52972	.|.	.|.	ENSG00000149256|ENSG00000149256	ENST00000278550|ENST00000533525	T|.	0.11604|.	2.76|.	5.1|5.1	3.96|3.96	0.45880|0.45880	Epidermal growth factor-like (1);EGF-like region, conserved site (2);|.	0.162904|.	0.53938|.	D|.	0.000047|.	T|T	0.61837|0.61837	0.2379|0.2379	M|M	0.65320|0.65320	2|2	0.35577|0.35577	D|D	0.80599|0.80599	B|.	0.23735|.	0.09|.	B|.	0.22386|.	0.039|.	T|T	0.68526|0.68526	-0.5385|-0.5385	9|5	.|.	.|.	.|.	.|.	8.3435|8.3435	0.32258|0.32258	0.0:0.1582:0.0:0.8418|0.0:0.1582:0.0:0.8418	.|.	688|.	Q6N022|.	TEN4_HUMAN|.	I|S	688|2	ENSP00000278550:N688I|.	.|.	N|T	-|-	2|1	0|0	ODZ4|ODZ4	78194101|78194101	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.980000|0.980000	0.70556|0.70556	3.861000|3.861000	0.56002|0.56002	2.137000|2.137000	0.66172|0.66172	0.460000|0.460000	0.39030|0.39030	AAC|ACT		0.617	TENM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391406.2			4	9	0	0	0	1	0	4	9					A	78516453	T	A	78516453	3	1	67	1	0	0	0	0	1	0	0	0	10837	1725	60	5	6326	5	ODZ4	11	78516453	Missense_Mutation	SNP	T	TCGA-EJ-5519-01A-01D-1576-08	6220769	78516453	56490063	75	3459											
USP2	9099	broad.mit.edu	37	chr11	119228895	119228895	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gagaggtcccagaaggggtcGaagaccgtagaacagtaacc	14	4	14	9	2	0	4	0	0	0	4	2	6	1	4	3	3	2	2	3	3	5	2			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr11:119228895G>A	ENST00000260187.2	-	8	1599	c.1305C>T	c.(1303-1305)ttC>ttT	p.F435F	USP2_ENST00000455332.2_Silent_p.F192F|USP2_ENST00000525735.1_Silent_p.F226F	NM_004205.4	NP_004196.4	O75604	UBP2_HUMAN	ubiquitin specific peptidase 2	435	Necessary for interaction with MDM4.|USP.				cell cycle (GO:0007049)|muscle organ development (GO:0007517)|negative regulation of skeletal muscle tissue development (GO:0048642)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of skeletal muscle tissue development (GO:0048643)|protein deubiquitination (GO:0016579)|protein stabilization (GO:0050821)|ubiquitin-dependent protein catabolic process (GO:0006511)	cell cortex (GO:0005938)|centrosome (GO:0005813)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	cyclin binding (GO:0030332)|cysteine-type endopeptidase activity (GO:0004197)|metal ion binding (GO:0046872)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)	p.F435F(2)		breast(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1)	24		all_hematologic(192;4.65e-05)|Breast(348;0.0101)|all_neural(223;0.0218)|Medulloblastoma(222;0.0425)|Renal(330;0.157)		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.000513)|Colorectal(284;0.0116)|Lung(307;0.0853)|LUSC - Lung squamous cell carcinoma(976;0.0889)		AGAAGGGGTCGAAGACCGTAG	0.517																																						ENST00000260187.2																			2	Substitution - coding silent(2)	p.F435F(2)	prostate(2)	breast(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1)	24						c.(1303-1305)ttC>ttT		ubiquitin specific peptidase 2							101	94	97					11																	119228895		2199	4295	6494	SO:0001819	synonymous_variant	9099				cell cycle|muscle organ development|negative regulation of transcription from RNA polymerase II promoter|positive regulation of mitotic cell cycle|protein deubiquitination|protein stabilization|ubiquitin-dependent protein catabolic process	nucleus|perinuclear region of cytoplasm	cyclin binding|cysteine-type endopeptidase activity|metal ion binding|ubiquitin protein ligase binding|ubiquitin thiolesterase activity	g.chr11:119228895G>A	AF079564	CCDS8422.1, CCDS8423.1, CCDS58189.1	11q23.3	2008-02-05	2005-08-08			ENSG00000036672		"Ubiquitin-specific peptidases"	12618	protein-coding gene	gene with protein product		604725	"ubiquitin specific protease 2"			12838346	Standard	NM_004205		Approved	UBP41	uc001pwm.4	O75604		ENST00000260187.2:c.1305C>T	11.37:g.119228895G>A						USP2_ENST00000525735.1_Silent_p.F226F|USP2_ENST00000455332.2_Silent_p.F192F	p.F435F	NM_004205.4	NP_004196.4	O75604	UBP2_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.000513)|Colorectal(284;0.0116)|Lung(307;0.0853)|LUSC - Lung squamous cell carcinoma(976;0.0889)	8	1599	-		all_hematologic(192;4.65e-05)|Breast(348;0.0101)|all_neural(223;0.0218)|Medulloblastoma(222;0.0425)|Renal(330;0.157)	435			Necessary for interaction with MDM4.		B0YJB8|E9PPM2|Q8IUM2|Q8IW04|Q96MB9|Q9BQ21	Silent	SNP	ENST00000260187.2	37	c.1305C>T	CCDS8422.1																																																																																				0.517	USP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388361.2	NM_171997		33	70	0	0	0	1	0	33	70					A	119228895	G	A	119228895	2	1	67	1	0	0	0	0	0	0	0	1	17048	1049	37	2		2	USP2	11	119228895	Silent	SNP	G	TCGA-EJ-5519-01A-01D-1576-08	40712442	119228895	15777621	76	3460											
C12orf35	55196	broad.mit.edu	37	chr12	32135815	32135815	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtacttctaatgtaagtggCagggttttggacaactcctt	10	14	10	7	0	1	0	0	0	1	0	2	1	2	1	1	3	2	4	1	3	4	7			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr12:32135815C>T	ENST00000312561.4	+	4	2340	c.1926C>T	c.(1924-1926)ggC>ggT	p.G642G	KIAA1551_ENST00000535596.1_Intron	NM_018169.3	NP_060639	Q9HCM1	K1551_HUMAN	KIAA1551	642								p.G642G(1)									ATGTAAGTGGCAGGGTTTTGG	0.413																																						ENST00000312561.4																			1	Substitution - coding silent(1)	p.G642G(1)	prostate(1)								c.(1924-1926)ggC>ggT		KIAA1551							62	59	60					12																	32135815		2203	4299	6502	SO:0001819	synonymous_variant	55196							g.chr12:32135815C>T	AK001514	CCDS8725.2	12p11.21	2012-08-14	2012-08-14	2012-08-14	ENSG00000174718	ENSG00000174718			25559	protein-coding gene	gene with protein product			"chromosome 12 open reading frame 35"	C12orf35		10997877	Standard	NM_018169		Approved	FLJ20696, FLJ10652	uc001rks.3	Q9HCM1	OTTHUMG00000128501	ENST00000312561.4:c.1926C>T	12.37:g.32135815C>T						KIAA1551_ENST00000535596.1_Intron	p.G642G	NM_018169.3	NP_060639.3					4	2340	+								B2RTU5|Q4KN17|Q9NVL6|Q9NWP9	Silent	SNP	ENST00000312561.4	37	c.1926C>T	CCDS8725.2																																																																																				0.413	KIAA1551-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250307.2	NM_018169		30	47	0	0	0	1	0	30	47					T	32135815	C	T	32135815	2	4	67	1	0	0	0	0	0	0	0	1	1682	697	25	3		3	C12orf35	12	32135815	Silent	SNP	C	TCGA-EJ-5519-01A-01D-1576-08		32135815	101716080	77	3461											
SLC38A2	54407	broad.mit.edu	37	chr12	46757763	46757763	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgacagacaaatgaaaagatCagaattggcacagcatagac	19	6	9	7	0	1	6	1	2	0	4	1	6	1	6	0	1	1	2	0	1	5	2			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr12:46757763C>G	ENST00000256689.5	-	11	1341	c.897G>C	c.(895-897)ctG>ctC	p.L299L	SLC38A2_ENST00000551374.1_Silent_p.L137L|SLC38A2_ENST00000547252.1_5'Flank	NM_018976.4	NP_061849.2	Q96QD8	S38A2_HUMAN	solute carrier family 38, member 2	299					amino acid transport (GO:0006865)|glutamate secretion (GO:0014047)|ion transport (GO:0006811)|neurotransmitter secretion (GO:0007269)|sodium ion transport (GO:0006814)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	amino acid transmembrane transporter activity (GO:0015171)|symporter activity (GO:0015293)	p.L299L(1)		cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	18	Lung SC(27;0.192)|Renal(347;0.236)		OV - Ovarian serous cystadenocarcinoma(5;0.0048)|Epithelial(2;0.0374)	GBM - Glioblastoma multiforme(48;0.226)		ATGAAAAGATCAGAATTGGCA	0.328																																					Ovarian(9;448 492 8335 28722 40361)	ENST00000256689.5																			1	Substitution - coding silent(1)	p.L299L(1)	prostate(1)	cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	18						c.(895-897)ctG>ctC		solute carrier family 38, member 2							81	76	78					12																	46757763		2202	4299	6501	SO:0001819	synonymous_variant	54407				cellular nitrogen compound metabolic process|glutamate secretion|neurotransmitter secretion|sodium ion transport	integral to membrane|plasma membrane	amino acid transmembrane transporter activity|symporter activity	g.chr12:46757763C>G	AB037803	CCDS8749.1	12q13.11	2014-08-12			ENSG00000134294	ENSG00000134294		"Solute carriers"	13448	protein-coding gene	gene with protein product		605180				10747860, 17237199	Standard	NM_018976		Approved	SAT2, ATA2, KIAA1382, SNAT2	uc001rpg.3	Q96QD8	OTTHUMG00000169471	ENST00000256689.5:c.897G>C	12.37:g.46757763C>G						SLC38A2_ENST00000551374.1_Silent_p.L137L	p.L299L	NM_018976.4	NP_061849.2	Q96QD8	S38A2_HUMAN	OV - Ovarian serous cystadenocarcinoma(5;0.0048)|Epithelial(2;0.0374)	GBM - Glioblastoma multiforme(48;0.226)	11	1341	-	Lung SC(27;0.192)|Renal(347;0.236)		299					Q6IA88|Q6ZMG2|Q9HAV3|Q9NVA8|Q9P2G5	Silent	SNP	ENST00000256689.5	37	c.897G>C	CCDS8749.1																																																																																				0.328	SLC38A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404226.1			14	30	0	0	0	1	0	14	30					G	46757763	C	G	46757763	2	3	67	1	0	0	0	0	0	0	0	1	14604	813	29	5		5	SLC38A2	12	46757763	Silent	SNP	C	TCGA-EJ-5519-01A-01D-1576-08	14621948	46757763	87094132	78	3462											
NUP107	57122	broad.mit.edu	37	chr12	69094533	69094533	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tactgagtaaaatagtgagtCgagcaacacctggacttcaa	15	9	9	8	1	1	2	1	2	0	0	2	4	1	3	1	1	3	2	1	1	6	4			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr12:69094533C>A	ENST00000229179.4	+	7	912	c.580C>A	c.(580-582)Cga>Aga	p.R194R	NUP107_ENST00000539906.1_Silent_p.R165R|NUP107_ENST00000378905.2_Silent_p.R43R	NM_020401.2	NP_065134.1	P57740	NU107_HUMAN	nucleoporin 107kDa	194					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA export from nucleus (GO:0006406)|nuclear pore complex assembly (GO:0051292)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	centrosome (GO:0005813)|cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)|nuclear pore outer ring (GO:0031080)|nucleus (GO:0005634)	nucleocytoplasmic transporter activity (GO:0005487)|structural constituent of nuclear pore (GO:0017056)	p.R194R(1)	NUP107/LGR5(2)	breast(3)|endometrium(4)|kidney(4)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(2)	39	Breast(13;6.25e-06)		Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00694)			AATAGTGAGTCGAGCAACACC	0.363																																						ENST00000229179.4																		NUP107/LGR5(2)	1	Substitution - coding silent(1)	p.R194R(1)	prostate(1)	breast(3)|endometrium(4)|kidney(4)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(2)	39						c.(580-582)Cga>Aga		nucleoporin 107kDa							62	61	61					12																	69094533		2203	4300	6503	SO:0001819	synonymous_variant	57122				carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex	nucleocytoplasmic transporter activity|protein binding	g.chr12:69094533C>A	AK055629	CCDS8985.1	12q14	2004-03-19			ENSG00000111581	ENSG00000111581			29914	protein-coding gene	gene with protein product		607617				12552102, 12705868	Standard	XM_005269037		Approved	NUP84	uc001suf.3	P57740	OTTHUMG00000169265	ENST00000229179.4:c.580C>A	12.37:g.69094533C>A						NUP107_ENST00000539906.1_Silent_p.R165R|NUP107_ENST00000378905.2_Silent_p.R43R	p.R194R	NM_020401.2	NP_065134.1	P57740	NU107_HUMAN	Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00694)		7	912	+	Breast(13;6.25e-06)		194					B4DZ67|Q6PJE1	Silent	SNP	ENST00000229179.4	37	c.580C>A	CCDS8985.1																																																																																				0.363	NUP107-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403195.1	NM_020401		32	67	1	0	3.99451e-17	1	4.4894e-17	32	67					A	69094533	C	A	69094533	2	1	67	1	0	0	0	0	0	0	0	1	10753	876	31	5		5	NUP107	12	69094533	Silent	SNP	C	TCGA-EJ-5519-01A-01D-1576-08	22336770	69094533	64757362	79	3463											
C12orf63	144535	broad.mit.edu	37	chr12	97098576	97098576	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cagtaaagaaaatatacaggTaaggataataatattttata	21	12	6	2	0	0	1	0	0	0	1	0	2	0	2	0	2	1	2	0	2	12	10			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr12:97098576T>C	ENST00000524981.4	+	47	6551		c.e47+2					Q96N23	CL055_HUMAN										p.?(1)									AATATACAGGTAAGGATAATA	0.284																																						ENST00000524981.3																			1	Unknown(1)	p.?(1)	prostate(1)	breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(26)|ovary(1)|prostate(2)|skin(11)|stomach(2)	54						c.e14+2									28	30	29					12																	97098576		2173	4239	6412	SO:0001630	splice_region_variant	0							g.chr12:97098576T>C																												ENST00000524981.4:c.6528+2T>C	12.37:g.97098576T>C										Q6ZTY8	CL063_HUMAN			14	1881	+									Splice_Site	SNP	ENST00000524981.4	37			.	.	.	.	.	.	.	.	.	.	T	18.29	3.590618	0.66219	.	.	ENSG00000188596	ENST00000524981;ENST00000342887	.	.	.	4.88	4.88	0.63580	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.8069	0.46522	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	C12orf63	95622707	1.000000	0.71417	0.996000	0.52242	0.941000	0.58515	3.680000	0.54641	2.041000	0.60428	0.455000	0.32223	.		0.284	C12orf55-003	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf	protein_coding	protein_coding	OTTHUMT00000395046.4		Intron	26	27	0	0	0	1	0	26	27					C	97098576	T	C	97098576	5	2	67	1	0	0	0	0	0	0	1	0	1706	1652	57	4	1855	4	C12orf63	12	97098576	Splice_Site	SNP	T	TCGA-EJ-5519-01A-01D-1576-08	28004043	97098576	36753319	80	3464											
KCTD10	83892	broad.mit.edu	37	chr12	109898479	109898479	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcttccaccaggccttggaCtaggtagtacttggcttctg	6	13	10	12	0	2	0	0	0	2	0	3	1	3	1	3	4	1	3	3	4	3	7			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr12:109898479C>G	ENST00000228495.6	-	3	630	c.349G>C	c.(349-351)Gtc>Ctc	p.V117L	KCTD10_ENST00000540411.1_Missense_Mutation_p.V114L|KCTD10_ENST00000540089.1_5'Flank|KCTD10_ENST00000538161.1_5'UTR|KCTD10_ENST00000424763.2_Intron	NM_031954.3	NP_114160.1	Q9H3F6	BACD3_HUMAN	potassium channel tetramerization domain containing 10	117					proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein homooligomerization (GO:0051260)|protein ubiquitination (GO:0016567)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|TCTN-B9D complex (GO:0036038)		p.V117L(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)	10						AGGCCTTGGACTAGGTAGTAC	0.577																																						ENST00000228495.6																			1	Substitution - Missense(1)	p.V117L(1)	prostate(1)	endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)	10						c.(349-351)Gtc>Ctc		potassium channel tetramerization domain containing 10							106	93	97					12																	109898479		2203	4300	6503	SO:0001583	missense	83892				proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination	Cul3-RING ubiquitin ligase complex|cytoplasm|nucleus|voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr12:109898479C>G	BC040062	CCDS9128.1	12q24.12	2013-06-20	2013-06-20		ENSG00000110906	ENSG00000110906		"BTB/POZ domain containing"	23236	protein-coding gene	gene with protein product		613421	"potassium channel tetramerisation domain containing 10"			12477932	Standard	XM_005253946		Approved	MSTP028, BTBD28	uc001toi.1	Q9H3F6	OTTHUMG00000169253	ENST00000228495.6:c.349G>C	12.37:g.109898479C>G	ENSP00000228495:p.Val117Leu					KCTD10_ENST00000540411.1_Missense_Mutation_p.V114L|KCTD10_ENST00000538161.1_5'UTR|KCTD10_ENST00000424763.2_Intron	p.V117L	NM_031954.3	NP_114160.1	Q9H3F6	BACD3_HUMAN			3	630	-			117					Q53HN2|Q59FV1|Q6PL47|Q96SU0	Missense_Mutation	SNP	ENST00000228495.6	37	c.349G>C	CCDS9128.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	10.25|10.25	1.299606|1.299606	0.23650|0.23650	.|.	.|.	ENSG00000110906|ENSG00000110906	ENST00000228495;ENST00000540411;ENST00000542262;ENST00000542858|ENST00000538161	T;T;T;T|.	0.71341|.	-0.56;-0.56;-0.56;-0.56|.	4.81|4.81	4.81|4.81	0.61882|0.61882	BTB/POZ-like (1);BTB/POZ fold (2);Potassium channel, voltage dependent, Kv, tetramerisation (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.25005|.	0.0607|.	N|N	0.00661|0.00661	-1.28|-1.28	0.80722|0.80722	D|D	1|1	B;B;B|.	0.16603|.	0.003;0.001;0.018|.	B;B;B|.	0.25405|.	0.013;0.013;0.06|.	T|.	0.32079|.	-0.9920|.	10|.	0.15066|.	T|.	0.55|.	-28.4714|-28.4714	17.05|17.05	0.86516|0.86516	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	114;117;117|.	F5GWA4;Q9H3F6-2;Q9H3F6|.	.;.;BACD3_HUMAN|.	L|Y	117;114;117;117|82	ENSP00000228495:V117L;ENSP00000441672:V114L;ENSP00000437348:V117L;ENSP00000445129:V117L|.	ENSP00000228495:V117L|.	V|X	-|-	1|3	0|2	KCTD10|KCTD10	108382862|108382862	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.977000|0.977000	0.68977|0.68977	3.906000|3.906000	0.56340|0.56340	2.499000|2.499000	0.84300|0.84300	0.563000|0.563000	0.77884|0.77884	GTC|TAG		0.577	KCTD10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403099.1	NM_031954		28	140	0	0	0	1	0	28	140					G	109898479	C	G	109898479	3	3	67	1	0	0	0	0	1	0	0	0	8097	565	20	5	612	5	KCTD10	12	109898479	Missense_Mutation	SNP	C	TCGA-EJ-5519-01A-01D-1576-08	12799903	109898479	23953416	81	3465											
ACAD10	80724	broad.mit.edu	37	chr12	112153696	112153696	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acatcaggctggctaatcgtGatctagttctgaggaagaag	12	10	12	7	1	3	3	1	2	2	1	4	4	3	4	0	3	0	3	0	3	4	3			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr12:112153696G>A	ENST00000313698.4	+	7	1077	c.922G>A	c.(922-924)Gat>Aat	p.D308N	ACAD10_ENST00000549590.1_Missense_Mutation_p.D308N|ACAD10_ENST00000392636.2_5'UTR|ACAD10_ENST00000455480.2_Missense_Mutation_p.D339N|ACAD10_ENST00000413681.3_3'UTR	NM_025247.5	NP_079523.3	Q6JQN1	ACD10_HUMAN	acyl-CoA dehydrogenase family, member 10	308						mitochondrion (GO:0005739)	acyl-CoA dehydrogenase activity (GO:0003995)|flavin adenine dinucleotide binding (GO:0050660)|hydrolase activity (GO:0016787)|transferase activity, transferring phosphorus-containing groups (GO:0016772)	p.D308N(1)		NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(17)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(5)	47						GGCTAATCGTGATCTAGTTCT	0.488																																						ENST00000455480.2																			1	Substitution - Missense(1)	p.D308N(1)	prostate(1)	NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(17)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(5)	47						c.(1015-1017)Gat>Aat		acyl-CoA dehydrogenase family, member 10							188	184	185					12																	112153696		2203	4300	6503	SO:0001583	missense	80724						acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|hydrolase activity|transferase activity, transferring phosphorus-containing groups	g.chr12:112153696G>A	AY323912	CCDS31903.1, CCDS44973.1	12q24.12	2012-10-02	2010-04-30		ENSG00000111271	ENSG00000111271			21597	protein-coding gene	gene with protein product		611181	"acyl-Coenzyme A dehydrogenase family, member 10"			15560374	Standard	NM_025247		Approved	MGC5601	uc009zvx.3	Q6JQN1	OTTHUMG00000169602	ENST00000313698.4:c.922G>A	12.37:g.112153696G>A	ENSP00000325137:p.Asp308Asn					ACAD10_ENST00000549590.1_Missense_Mutation_p.D308N|ACAD10_ENST00000313698.4_Missense_Mutation_p.D308N|ACAD10_ENST00000392636.2_5'UTR|ACAD10_ENST00000413681.3_3'UTR	p.D339N	NM_001136538.1	NP_001130010.1	Q6JQN1	ACD10_HUMAN			8	1192	+			308					G3XAJ0|Q8N828|Q8NAP2|Q96BX5	Missense_Mutation	SNP	ENST00000313698.4	37	c.1015G>A	CCDS31903.1	.	.	.	.	.	.	.	.	.	.	G	6.888	0.533281	0.13188	.	.	ENSG00000111271	ENST00000413681;ENST00000549590;ENST00000455480;ENST00000313698;ENST00000552706;ENST00000507683	T;T;T	0.30981	1.51;1.51;1.51	5.1	4.2	0.49525	Aminoglycoside phosphotransferase (1);Protein kinase-like domain (1);	0.693460	0.15077	N	0.281876	T	0.25791	0.0628	L	0.33668	1.02	0.54753	D	0.999989	B;B;B;B	0.23990	0.072;0.027;0.026;0.095	B;B;B;B	0.31614	0.133;0.02;0.039;0.037	T	0.05818	-1.0862	10	0.45353	T	0.12	.	8.955	0.35812	0.0:0.6225:0.2981:0.0794	.	339;46;308;308	G3XAJ0;F8W0Q4;Q6JQN1;Q6JQN1-2	.;.;ACD10_HUMAN;.	N	308;308;339;308;46;46	ENSP00000446959:D308N;ENSP00000389813:D339N;ENSP00000325137:D308N	ENSP00000325137:D308N	D	+	1	0	ACAD10	110638079	0.032000	0.19561	0.848000	0.33437	0.283000	0.27025	0.519000	0.22862	1.262000	0.44165	-0.165000	0.13383	GAT		0.488	ACAD10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368307.1	NM_025247		29	387	0	0	0	1	0	29	387					A	112153696	G	A	112153696	3	1	67	1	0	0	0	0	1	0	0	0	108	1290	45	3	1041	3	ACAD10	12	112153696	Missense_Mutation	SNP	G	TCGA-EJ-5519-01A-01D-1576-08	2255217	112153696	21698199	82	3466											
SACS	26278	broad.mit.edu	37	chr13	23909862	23909862	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tctggaccattctgtctgatGctggaacagacgaaatttcc	10	12	9	10	1	3	2	0	1	3	1	4	5	4	4	2	2	2	1	2	2	2	2			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr13:23909862G>C	ENST00000382292.3	-	9	8426	c.8153C>G	c.(8152-8154)gCa>gGa	p.A2718G	SACS_ENST00000402364.1_Missense_Mutation_p.A1968G|SACS_ENST00000382298.3_Missense_Mutation_p.A2718G			Q9NZJ4	SACS_HUMAN	sacsin molecular chaperone	2718					cell death (GO:0008219)|negative regulation of inclusion body assembly (GO:0090084)|protein folding (GO:0006457)	axon (GO:0030424)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chaperone binding (GO:0051087)|Hsp70 protein binding (GO:0030544)|proteasome binding (GO:0070628)	p.A2571G(1)		NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		TCTGTCTGATGCTGGAACAGA	0.378																																						ENST00000382298.3																			1	Substitution - Missense(1)	p.A2571G(1)	prostate(1)	NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189						c.(8152-8154)gCa>gGa		spastic ataxia of Charlevoix-Saguenay (sacsin)							70	70	70					13																	23909862		2203	4299	6502	SO:0001583	missense	26278				cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding	g.chr13:23909862G>C	AF193556	CCDS9300.2	13q11	2014-06-13	2014-01-30		ENSG00000151835	ENSG00000151835		"Heat shock proteins / DNAJ (HSP40)"	10519	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 138"	604490	"spastic ataxia of Charlevoix-Saguenay (sacsin)"			10610707, 15057823, 21726565	Standard	NM_001278055		Approved	ARSACS, KIAA0730, DKFZp686B15167, DNAJC29, SPAX6, PPP1R138	uc001uon.3	Q9NZJ4	OTTHUMG00000016562	ENST00000382292.3:c.8153C>G	13.37:g.23909862G>C	ENSP00000371729:p.Ala2718Gly					SACS_ENST00000402364.1_Missense_Mutation_p.A1968G|SACS_ENST00000382292.3_Missense_Mutation_p.A2718G	p.A2718G	NM_014363.4	NP_055178.3	Q9NZJ4	SACS_HUMAN		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)	10	8741	-		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)	2718					O94835|Q5T9J5|Q5T9J7|Q5T9J8|Q68DF5|Q6MZR4|Q8NBF9	Missense_Mutation	SNP	ENST00000382292.3	37	c.8153C>G	CCDS9300.2	.	.	.	.	.	.	.	.	.	.	G	15.80	2.939106	0.52972	.	.	ENSG00000151835	ENST00000382292;ENST00000402364;ENST00000382298	D;D;D	0.93763	-3.28;-3.28;-3.28	5.56	5.56	0.83823	ATPase-like, ATP-binding domain (1);	0.221844	0.39615	N	0.001319	D	0.89417	0.6709	L	0.36672	1.1	0.35408	D	0.792217	B	0.12630	0.006	B	0.15870	0.014	D	0.87623	0.2511	10	0.27785	T	0.31	.	15.3685	0.74541	0.0:0.1792:0.8208:0.0	.	2718	Q9NZJ4	SACS_HUMAN	G	2718;1968;2718	ENSP00000371729:A2718G;ENSP00000385844:A1968G;ENSP00000371735:A2718G	ENSP00000371729:A2718G	A	-	2	0	SACS	22807862	1.000000	0.71417	1.000000	0.80357	0.680000	0.39746	7.222000	0.78025	2.619000	0.88677	0.462000	0.41574	GCA		0.378	SACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044148.3	NM_014363		55	128	0	0	0	1	0	55	128					C	23909862	G	C	23909862	3	2	67	1	0	0	0	0	1	0	0	0	13804	1319	46	5	5590	5	SACS	13	23909862	Missense_Mutation	SNP	G	TCGA-EJ-5519-01A-01D-1576-08		23909862	91260016	83	3467											
RCBTB1	55213	broad.mit.edu	37	chr13	50123715	50123715	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccccggcactggccccacatGtacacgtgcccaccctgcgt	6	6	9	20	3	0	0	0	0	0	0	0	0	0	0	6	2	3	2	6	2	1	1			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr13:50123715G>A	ENST00000378302.2	-	9	1184	c.924C>T	c.(922-924)taC>taT	p.Y308Y	RCBTB1_ENST00000258646.3_Silent_p.Y308Y|RCBTB1_ENST00000546015.1_Silent_p.Y308Y	NM_018191.3	NP_060661.3	Q8NDN9	RCBT1_HUMAN	regulator of chromosome condensation (RCC1) and BTB (POZ) domain containing protein 1	308					cell cycle (GO:0007049)|chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.Y308Y(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|urinary_tract(1)	16		Lung NSC(96;2.1e-05)|Breast(56;0.00015)|Prostate(109;0.00314)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;4.7e-09)		GGCCCCACATGTACACGTGCC	0.577																																						ENST00000378302.2																			1	Substitution - coding silent(1)	p.Y308Y(1)	prostate(1)	endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|urinary_tract(1)	16						c.(922-924)taC>taT		regulator of chromosome condensation (RCC1) and BTB (POZ) domain containing protein 1							88	70	76					13																	50123715		2203	4300	6503	SO:0001819	synonymous_variant	55213				cell cycle|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus		g.chr13:50123715G>A	AF334406	CCDS9418.1	13q14	2013-01-08			ENSG00000136144	ENSG00000136144		"BTB/POZ domain containing"	18243	protein-coding gene	gene with protein product		607867				11306461	Standard	XM_005266441		Approved	FLJ10716, CLLD7, CLLL7	uc001vde.1	Q8NDN9	OTTHUMG00000016915	ENST00000378302.2:c.924C>T	13.37:g.50123715G>A						RCBTB1_ENST00000546015.1_Silent_p.Y308Y|RCBTB1_ENST00000258646.3_Silent_p.Y308Y	p.Y308Y	NM_018191.3	NP_060661.3	Q8NDN9	RCBT1_HUMAN	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;4.7e-09)	9	1184	-		Lung NSC(96;2.1e-05)|Breast(56;0.00015)|Prostate(109;0.00314)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)	308					Q8IY29|Q969U9	Silent	SNP	ENST00000378302.2	37	c.924C>T	CCDS9418.1																																																																																				0.577	RCBTB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044912.2	NM_018191		20	47	0	0	0	1	0	20	47					A	50123715	G	A	50123715	2	1	67	1	0	0	0	0	0	0	0	1	13171	1372	48	3		3	RCBTB1	13	50123715	Silent	SNP	G	TCGA-EJ-5519-01A-01D-1576-08	26213853	50123715	65046163	84	3468											
MYCBP2	23077	broad.mit.edu	37	chr13	77664342	77664342	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagcaacaactgagtatgatCtttggaagacagttctcttt	13	13	8	7	0	2	3	0	2	2	1	3	4	2	4	0	1	3	3	0	1	5	4			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr13:77664342C>A	ENST00000544440.2	-	60	10327	c.10310G>T	c.(10309-10311)aGa>aTa	p.R3437I	MYCBP2-AS1_ENST00000422231.2_RNA|MYCBP2_ENST00000407578.2_Missense_Mutation_p.R3475I|MYCBP2_ENST00000357337.6_Missense_Mutation_p.R3437I|MYCBP2-AS1_ENST00000450627.2_RNA|MYCBP2-AS1_ENST00000593933.1_RNA|MYCBP2-AS1_ENST00000448470.2_RNA					MYC binding protein 2, E3 ubiquitin protein ligase									p.R3437I(1)|p.R3475I(1)		NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		TGAGTATGATCTTTGGAAGAC	0.388																																						ENST00000407578.2																			2	Substitution - Missense(2)	p.R3437I(1)|p.R3475I(1)	prostate(2)	NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118						c.(10423-10425)aGa>aTa		MYC binding protein 2, E3 ubiquitin protein ligase							138	128	131					13																	77664342		2203	4300	6503	SO:0001583	missense	23077				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding	g.chr13:77664342C>A	AB020723		13q22	2012-02-23	2012-02-23		ENSG00000005810	ENSG00000005810			23386	protein-coding gene	gene with protein product		610392	"MYC binding protein 2"			9689053, 15057823	Standard	NM_015057		Approved	PAM, KIAA0916, FLJ10106	uc021rks.1	O75592	OTTHUMG00000017105	ENST00000544440.2:c.10310G>T	13.37:g.77664342C>A	ENSP00000444596:p.Arg3437Ile					MYCBP2_ENST00000357337.6_Missense_Mutation_p.R3437I|MYCBP2-AS1_ENST00000593933.1_RNA|MYCBP2_ENST00000544440.2_Missense_Mutation_p.R3437I	p.R3475I	NM_015057.4	NP_055872.4	O75592	MYCB2_HUMAN		GBM - Glioblastoma multiforme(99;0.109)	60	10690	-		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)	3437						Missense_Mutation	SNP	ENST00000544440.2	37	c.10424G>T		.	.	.	.	.	.	.	.	.	.	C	24.0	4.480067	0.84747	.	.	ENSG00000005810	ENST00000357337;ENST00000407578;ENST00000544440	T;T;T	0.50548	0.74;0.74;0.74	5.05	5.05	0.67936	.	0.000000	0.85682	D	0.000000	T	0.60996	0.2312	L	0.40543	1.245	0.80722	D	1	D	0.61697	0.99	D	0.66497	0.944	T	0.64364	-0.6425	10	0.87932	D	0	.	18.7708	0.91892	0.0:1.0:0.0:0.0	.	3437	O75592	MYCB2_HUMAN	I	3437;3475;3437	ENSP00000349892:R3437I;ENSP00000384288:R3475I;ENSP00000444596:R3437I	ENSP00000349892:R3437I	R	-	2	0	MYCBP2	76562343	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.583000	0.82559	2.494000	0.84150	0.650000	0.86243	AGA		0.388	MYCBP2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000045326.1	NM_015057		63	118	1	0	2.01871e-26	1	2.33069e-26	63	118					A	77664342	C	A	77664342	3	1	67	1	0	0	0	0	1	0	0	0	10018	913	32	5	3708	5	MYCBP2	13	77664342	Missense_Mutation	SNP	C	TCGA-EJ-5519-01A-01D-1576-08	27540627	77664342	37505536	85	3469											
THTPA	79178	broad.mit.edu	37	chr14	24027979	24027979	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccggcctcaagactatcagcGcctgctagaagtgaacagct	11	7	10	13	2	2	3	2	1	0	2	2	3	2	3	3	1	4	2	3	1	5	2			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr14:24027979G>A	ENST00000288014.6	+	2	1359	c.623G>A	c.(622-624)cGc>cAc	p.R208H	THTPA_ENST00000554970.1_Missense_Mutation_p.R118H|THTPA_ENST00000554789.1_3'UTR|RP11-66N24.4_ENST00000556354.1_RNA|THTPA_ENST00000404535.3_Missense_Mutation_p.R208H|RP11-66N24.3_ENST00000555968.1_RNA|RP11-66N24.4_ENST00000553985.1_RNA|RP11-66N24.4_ENST00000555446.1_RNA|THTPA_ENST00000556015.1_3'UTR			Q9BU02	THTPA_HUMAN	thiamine triphosphatase	208					dephosphorylation (GO:0016311)|generation of precursor metabolites and energy (GO:0006091)|small molecule metabolic process (GO:0044281)|thiamine diphosphate metabolic process (GO:0042357)|thiamine metabolic process (GO:0006772)|thiamine-containing compound metabolic process (GO:0042723)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)	hydrolase activity (GO:0016787)|magnesium ion binding (GO:0000287)|thiamin-triphosphatase activity (GO:0050333)	p.R208H(1)		large_intestine(1)|prostate(2)	3	all_cancers(95;0.000251)			GBM - Glioblastoma multiforme(265;0.00643)		GACTATCAGCGCCTGCTAGAA	0.547											OREG0022604	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000288014.6																			1	Substitution - Missense(1)	p.R208H(1)	prostate(1)	large_intestine(1)|prostate(2)	3						c.(622-624)cGc>cAc		thiamine triphosphatase	Thiamine(DB00152)						83	81	81					14																	24027979		2203	4300	6503	SO:0001583	missense	0				dephosphorylation|generation of precursor metabolites and energy|thiamine metabolic process	cytosol|nucleolus|soluble fraction	thiamin-triphosphatase activity	g.chr14:24027979G>A	AF432862	CCDS32053.1, CCDS58306.1, CCDS58307.1	14q11.2	2011-04-28					3.6.1.28		18987	protein-coding gene	gene with protein product		611612				11827967	Standard	NR_046051		Approved	THTPASE	uc001wkh.5	Q9BU02		ENST00000288014.6:c.623G>A	14.37:g.24027979G>A	ENSP00000288014:p.Arg208His		OREG0022604	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	768	THTPA_ENST00000556015.1_3'UTR|RP11-66N24.4_ENST00000556354.1_RNA|RP11-66N24.4_ENST00000553985.1_RNA|THTPA_ENST00000554970.1_Missense_Mutation_p.R118H|RP11-66N24.4_ENST00000555446.1_RNA|THTPA_ENST00000554789.1_3'UTR|THTPA_ENST00000404535.3_Missense_Mutation_p.R208H	p.R208H			Q9BU02	THTPA_HUMAN		GBM - Glioblastoma multiforme(265;0.00643)	2	1359	+	all_cancers(95;0.000251)		208					D3DS50|G3V4J3	Missense_Mutation	SNP	ENST00000288014.6	37	c.623G>A	CCDS32053.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.2|20.2	3.953810|3.953810	0.73902|0.73902	.|.	.|.	ENSG00000157306|ENSG00000157306	ENST00000556545|ENST00000404535;ENST00000288014;ENST00000554970	.|T;T;T	.|0.46063	.|0.88;0.88;0.97	6.03|6.03	1.98|1.98	0.26296|0.26296	.|CYTH domain (1);	.|0.358488	.|0.32357	.|N	.|0.006209	T|T	0.26268|0.26268	0.0641|0.0641	L|L	0.34521|0.34521	1.04|1.04	0.80722|0.80722	D|D	1|1	.|B	.|0.12013	.|0.005	.|B	.|0.04013	.|0.001	T|T	0.05699|0.05699	-1.0869|-1.0869	5|10	.|0.40728	.|T	.|0.16	-1.9336|-1.9336	4.3352|4.3352	0.11083|0.11083	0.2663:0.0:0.5605:0.1732|0.2663:0.0:0.5605:0.1732	.|.	.|208	.|Q9BU02	.|THTPA_HUMAN	T|H	38|208;208;118	.|ENSP00000384580:R208H;ENSP00000288014:R208H;ENSP00000452465:R118H	.|ENSP00000288014:R208H	A|R	+|+	1|2	0|0	THTPA|THTPA	23097819|23097819	0.997000|0.997000	0.39634|0.39634	0.999000|0.999000	0.59377|0.59377	0.988000|0.988000	0.76386|0.76386	0.470000|0.470000	0.22084|0.22084	0.096000|0.096000	0.17463|0.17463	0.655000|0.655000	0.94253|0.94253	GCC|CGC		0.547	THTPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413800.2			21	80	0	0	0	1	0	21	80					A	24027979	G	A	24027979	3	1	67	1	0	0	0	0	1	0	0	0	15878	1087	38	1	629	1	THTPA	14	24027979	Missense_Mutation	SNP	G	TCGA-EJ-5519-01A-01D-1576-08		24027979	83321561	86	3470											
ADAM20	8748	broad.mit.edu	37	chr14	70989752	70989752	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cactgtagaatgctctatcaGattgggaattactcccacat	12	12	7	10	0	2	2	1	0	1	2	3	3	3	3	1	1	2	2	1	1	5	4			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr14:70989752G>C	ENST00000256389.3	-	2	2117	c.1873C>G	c.(1873-1875)Ctg>Gtg	p.L625V	RP11-486O13.4_ENST00000556646.1_lincRNA	NM_003814.4	NP_003805.3	O43506	ADA20_HUMAN	ADAM metallopeptidase domain 20	575	Cys-rich.				binding of sperm to zona pellucida (GO:0007339)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.L625V(1)		autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(1)|skin(2)	27			KIRC - Kidney renal clear cell carcinoma(12;0.133)|Kidney(31;0.188)	all cancers(60;0.00294)|BRCA - Breast invasive adenocarcinoma(234;0.00668)|OV - Ovarian serous cystadenocarcinoma(108;0.0344)		TGCTCTATCAGATTGGGAATT	0.448																																						ENST00000256389.3																			1	Substitution - Missense(1)	p.L625V(1)	prostate(1)	autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(1)|skin(2)	27						c.(1873-1875)Ctg>Gtg		ADAM metallopeptidase domain 20							183	113	137					14																	70989752		2203	4300	6503	SO:0001583	missense	8748				proteolysis|single fertilization	integral to membrane	metalloendopeptidase activity|zinc ion binding	g.chr14:70989752G>C	AF029899	CCDS32111.1	14q24.2	2012-04-30	2005-08-18		ENSG00000134007	ENSG00000134007		"ADAM metallopeptidase domain containing"	199	protein-coding gene	gene with protein product		603712	"a disintegrin and metalloproteinase domain 20"			9469942	Standard	NM_003814		Approved		uc001xme.3	O43506	OTTHUMG00000167548	ENST00000256389.3:c.1873C>G	14.37:g.70989752G>C	ENSP00000256389:p.Leu625Val					RP11-486O13.4_ENST00000556646.1_lincRNA	p.L625V	NM_003814.4	NP_003805.3	O43506	ADA20_HUMAN	KIRC - Kidney renal clear cell carcinoma(12;0.133)|Kidney(31;0.188)	all cancers(60;0.00294)|BRCA - Breast invasive adenocarcinoma(234;0.00668)|OV - Ovarian serous cystadenocarcinoma(108;0.0344)	2	2117	-			575			Cys-rich.		Q6GTZ1|Q9UKJ9	Missense_Mutation	SNP	ENST00000256389.3	37	c.1873C>G	CCDS32111.1	.	.	.	.	.	.	.	.	.	.	G	13.28	2.191202	0.38707	.	.	ENSG00000134007	ENST00000256389	T	0.22945	1.93	4.66	-1.06	0.10002	ADAM, cysteine-rich (2);	0.263088	0.19245	N	0.119074	T	0.35364	0.0929	M	0.75085	2.285	0.09310	N	1	P	0.46952	0.887	P	0.59221	0.854	T	0.22941	-1.0202	10	0.62326	D	0.03	.	0.295	0.00264	0.3624:0.1409:0.2108:0.2859	.	575	O43506	ADA20_HUMAN	V	625	ENSP00000256389:L625V	ENSP00000256389:L625V	L	-	1	2	ADAM20	70059505	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-0.225000	0.09151	0.114000	0.18032	-0.225000	0.12378	CTG		0.448	ADAM20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395004.2			3	131	0	0	0	1	0	3	131					C	70989752	G	C	70989752	3	2	67	1	0	0	0	0	1	0	0	0	242	933	33	5	461	5	ADAM20	14	70989752	Missense_Mutation	SNP	G	TCGA-EJ-5519-01A-01D-1576-08	46961773	70989752	36359788	87	3471											
DUOX2	50506	broad.mit.edu	37	chr15	45404868	45404868	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gcggctcctccagagcctgaTacacaccgtcggcgtaattg	8	8	11	14	4	0	2	0	1	0	1	3	2	2	2	4	2	2	2	4	2	2	3			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr15:45404868T>C	ENST00000603300.1	-	4	411	c.209A>G	c.(208-210)tAt>tGt	p.Y70C	DUOX2_ENST00000389039.6_Missense_Mutation_p.Y70C|DUOXA2_ENST00000323030.5_5'Flank	NM_014080.4	NP_054799.4	Q9NRD8	DUOX2_HUMAN	dual oxidase 2	70	Peroxidase-like; mediates peroxidase activity. {ECO:0000250}.				adenohypophysis morphogenesis (GO:0048855)|bone mineralization (GO:0030282)|cuticle development (GO:0042335)|cytokine-mediated signaling pathway (GO:0019221)|fertilization (GO:0009566)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide catabolic process (GO:0042744)|inner ear development (GO:0048839)|multicellular organism growth (GO:0035264)|oxidation-reduction process (GO:0055114)|response to cAMP (GO:0051591)|response to virus (GO:0009615)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|heme binding (GO:0020037)|NAD(P)H oxidase activity (GO:0016174)|peroxidase activity (GO:0004601)	p.Y70C(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	63		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)		CAGAGCCTGATACACACCGTC	0.687																																						ENST00000389039.6																			1	Substitution - Missense(1)	p.Y70C(1)	prostate(1)	NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	63						c.(208-210)tAt>tGt		dual oxidase 2							32	37	35					15																	45404868		2196	4288	6484	SO:0001583	missense	50506				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|response to virus	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|peroxidase activity	g.chr15:45404868T>C	AF181972	CCDS10117.1	15q15.3-q21	2013-01-10			ENSG00000140279	ENSG00000140279		"EF-hand domain containing"	13273	protein-coding gene	gene with protein product	"dual oxidase-like domains 2", "nicotinamide adenine dinucleotide phosphate oxidase", "flavoprotein NADPH oxidase", "NADPH thyroid oxidase 2", "NADH/NADPH thyroid oxidase p138-tox", "NADPH oxidase/peroxidase DUOX2"	606759				10601291, 10806195	Standard	NM_014080		Approved	P138-TOX, P138(TOX), THOX2, LNOX2	uc010bea.3	Q9NRD8	OTTHUMG00000131355	ENST00000603300.1:c.209A>G	15.37:g.45404868T>C	ENSP00000475084:p.Tyr70Cys					DUOX2_ENST00000603300.1_Missense_Mutation_p.Y70C	p.Y70C			Q9NRD8	DUOX2_HUMAN		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)	4	594	-		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)	70			Peroxidase-like; mediates peroxidase activity (By similarity).		A8MQ13|D2XI64|Q9NR02|Q9UHF9	Missense_Mutation	SNP	ENST00000603300.1	37	c.209A>G	CCDS10117.1	.	.	.	.	.	.	.	.	.	.	T	21.8	4.203134	0.79127	.	.	ENSG00000140279	ENST00000389039	.	.	.	5.84	5.84	0.93424	.	0.000000	0.85682	D	0.000000	D	0.84678	0.5525	M	0.89904	3.07	0.80722	D	1	D	0.71674	0.998	D	0.72075	0.976	D	0.87786	0.2615	9	0.72032	D	0.01	-12.4282	15.3856	0.74699	0.0:0.0:0.0:1.0	.	70	Q9NRD8	DUOX2_HUMAN	C	70	.	ENSP00000373691:Y70C	Y	-	2	0	DUOX2	43192160	1.000000	0.71417	0.516000	0.27786	0.352000	0.29268	5.834000	0.69361	2.234000	0.73211	0.459000	0.35465	TAT		0.687	DUOX2-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_014080		15	29	0	0	0	1	0	15	29					C	45404868	T	C	45404868	3	2	67	1	0	0	0	0	1	0	0	0	4801	1406	49	4	4561	4	DUOX2	15	45404868	Missense_Mutation	SNP	T	TCGA-EJ-5519-01A-01D-1576-08		45404868	57126524	88	3472			1	12		2	2	23	N	T_C	8.527673e-05
DUOX2	50506	broad.mit.edu	37	chr15	45404890	45404890	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacaccgtcggcgtaattggCtggtacgcggcgctgcaacc	7	7	13	14	6	0	0	0	0	0	0	1	0	0	0	2	4	3	5	2	4	3	3			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr15:45404890C>G	ENST00000603300.1	-	4	389	c.187G>C	c.(187-189)Gcc>Ccc	p.A63P	DUOX2_ENST00000389039.6_Missense_Mutation_p.A63P|DUOXA2_ENST00000323030.5_5'Flank	NM_014080.4	NP_054799.4	Q9NRD8	DUOX2_HUMAN	dual oxidase 2	63	Peroxidase-like; mediates peroxidase activity. {ECO:0000250}.				adenohypophysis morphogenesis (GO:0048855)|bone mineralization (GO:0030282)|cuticle development (GO:0042335)|cytokine-mediated signaling pathway (GO:0019221)|fertilization (GO:0009566)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide catabolic process (GO:0042744)|inner ear development (GO:0048839)|multicellular organism growth (GO:0035264)|oxidation-reduction process (GO:0055114)|response to cAMP (GO:0051591)|response to virus (GO:0009615)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|heme binding (GO:0020037)|NAD(P)H oxidase activity (GO:0016174)|peroxidase activity (GO:0004601)	p.A63P(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	63		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)		GCGTAATTGGCTGGTACGCGG	0.682																																						ENST00000389039.6																			1	Substitution - Missense(1)	p.A63P(1)	prostate(1)	NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	63						c.(187-189)Gcc>Ccc		dual oxidase 2							30	36	34					15																	45404890		2191	4269	6460	SO:0001583	missense	50506				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|response to virus	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|peroxidase activity	g.chr15:45404890C>G	AF181972	CCDS10117.1	15q15.3-q21	2013-01-10			ENSG00000140279	ENSG00000140279		"EF-hand domain containing"	13273	protein-coding gene	gene with protein product	"dual oxidase-like domains 2", "nicotinamide adenine dinucleotide phosphate oxidase", "flavoprotein NADPH oxidase", "NADPH thyroid oxidase 2", "NADH/NADPH thyroid oxidase p138-tox", "NADPH oxidase/peroxidase DUOX2"	606759				10601291, 10806195	Standard	NM_014080		Approved	P138-TOX, P138(TOX), THOX2, LNOX2	uc010bea.3	Q9NRD8	OTTHUMG00000131355	ENST00000603300.1:c.187G>C	15.37:g.45404890C>G	ENSP00000475084:p.Ala63Pro					DUOX2_ENST00000603300.1_Missense_Mutation_p.A63P	p.A63P			Q9NRD8	DUOX2_HUMAN		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)	4	572	-		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)	63			Peroxidase-like; mediates peroxidase activity (By similarity).		A8MQ13|D2XI64|Q9NR02|Q9UHF9	Missense_Mutation	SNP	ENST00000603300.1	37	c.187G>C	CCDS10117.1	.	.	.	.	.	.	.	.	.	.	C	25.9	4.685559	0.88639	.	.	ENSG00000140279	ENST00000389039	.	.	.	5.84	5.84	0.93424	.	0.000000	0.85682	D	0.000000	T	0.58293	0.2112	L	0.40543	1.245	0.80722	D	1	P	0.39551	0.678	P	0.47015	0.534	T	0.47420	-0.9119	9	0.13470	T	0.59	-24.4705	19.116	0.93340	0.0:1.0:0.0:0.0	.	63	Q9NRD8	DUOX2_HUMAN	P	63	.	ENSP00000373691:A63P	A	-	1	0	DUOX2	43192182	1.000000	0.71417	0.954000	0.39281	0.392000	0.30506	7.286000	0.78671	2.768000	0.95171	0.561000	0.74099	GCC		0.682	DUOX2-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_014080		18	28	0	0	0	1	0	18	28					G	45404890	C	G	45404890	3	3	67	1	0	0	0	0	1	0	0	0	4801	797	28	5	4583	5	DUOX2	15	45404890	Missense_Mutation	SNP	C	TCGA-EJ-5519-01A-01D-1576-08	22	45404890	57126502	89	3473			1	12		2	2	23	N	T_C	8.527673e-05
GNB5	10681	broad.mit.edu	37	chr15	52433404	52433404	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gcatagcaacagacttctttTtggcagccatgttttcattt	9	16	7	9	0	2	1	1	0	1	1	2	1	2	1	1	1	3	4	1	1	2	7			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr15:52433404T>C	ENST00000261837.7	-	7	625	c.560A>G	c.(559-561)aAa>aGa	p.K187R	CTD-2184D3.7_ENST00000557898.1_RNA|CTD-2184D3.7_ENST00000560613.1_RNA|GNB5_ENST00000396335.4_Intron|GNB5_ENST00000559348.1_5'Flank|GNB5_ENST00000358784.7_Missense_Mutation_p.K145R	NM_016194.3	NP_057278.2	O14775	GBB5_HUMAN	guanine nucleotide binding protein (G protein), beta 5	187					GTP catabolic process (GO:0006184)|negative regulation of voltage-gated calcium channel activity (GO:1901386)|phototransduction, visible light (GO:0007603)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|signal transduction (GO:0007165)	nucleus (GO:0005634)|plasma membrane (GO:0005886)	chaperone binding (GO:0051087)|G-protein gamma-subunit binding (GO:0031682)|GTPase activity (GO:0003924)|signal transducer activity (GO:0004871)	p.K187R(1)		large_intestine(1)|lung(1)	2				all cancers(107;0.0163)		AGACTTCTTTTTGGCAGCCAT	0.453																																						ENST00000261837.7																			1	Substitution - Missense(1)	p.K187R(1)	prostate(1)	large_intestine(1)|lung(1)	2						c.(559-561)aAa>aGa		guanine nucleotide binding protein (G protein), beta 5							161	146	151					15																	52433404		2195	4293	6488	SO:0001583	missense	0					heterotrimeric G-protein complex	GTPase activity|signal transducer activity	g.chr15:52433404T>C	AF017656	CCDS10149.1, CCDS45261.1	15q21.1	2013-01-10			ENSG00000069966	ENSG00000069966		"WD repeat domain containing"	4401	protein-coding gene	gene with protein product		604447				9606987	Standard	NM_016194		Approved	GB5	uc031qrz.1	O14775	OTTHUMG00000131892	ENST00000261837.7:c.560A>G	15.37:g.52433404T>C	ENSP00000261837:p.Lys187Arg					GNB5_ENST00000358784.7_Missense_Mutation_p.K145R|GNB5_ENST00000396335.4_Intron	p.K187R	NM_016194.3	NP_057278.2	O14775	GBB5_HUMAN		all cancers(107;0.0163)	7	625	-			187					B2RBR5|Q9HAU9|Q9UFT3	Missense_Mutation	SNP	ENST00000261837.7	37	c.560A>G	CCDS10149.1	.	.	.	.	.	.	.	.	.	.	T	13.72	2.322417	0.41096	.	.	ENSG00000069966	ENST00000261837;ENST00000396335	T	0.01304	5.03	5.41	5.41	0.78517	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.05593	0.0147	L	0.51422	1.61	0.80722	D	1	D	0.63880	0.993	D	0.75020	0.985	T	0.59306	-0.7479	10	0.22706	T	0.39	-23.3351	15.6048	0.76658	0.0:0.0:0.0:1.0	.	187	O14775	GBB5_HUMAN	R	187;145	ENSP00000261837:K187R	ENSP00000261837:K187R	K	-	2	0	GNB5	50220696	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.695000	0.84257	2.265000	0.75225	0.533000	0.62120	AAA		0.453	GNB5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254842.1			49	80	0	0	0	1	0	49	80					C	52433404	T	C	52433404	3	2	67	1	0	0	0	0	1	0	0	0	6521	1841	64	4	655	4	GNB5	15	52433404	Missense_Mutation	SNP	T	TCGA-EJ-5519-01A-01D-1576-08	7028514	52433404	50097988	90	3474											
KIAA1370	56204	broad.mit.edu	37	chr15	52877000	52877000	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtgtcggatgttctctttatTaacacttctcttcacttctt	6	20	5	10	1	4	0	1	0	3	0	7	1	4	1	0	1	1	1	0	1	2	8			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr15:52877000T>G	ENST00000261844.7	-	12	3171	c.3019A>C	c.(3019-3021)Aat>Cat	p.N1007H	FAM214A_ENST00000546305.2_Missense_Mutation_p.N1014H|RP11-23N2.4_ENST00000566344.1_RNA|RP11-23N2.4_ENST00000562062.1_RNA	NM_019600.2	NP_062546.2	Q32MH5	F214A_HUMAN	family with sequence similarity 214, member A	1007								p.N1007H(1)									TTCTCTTTATTAACACTTCTC	0.348																																						ENST00000261844.7																			1	Substitution - Missense(1)	p.N1007H(1)	prostate(1)								c.(3019-3021)Aat>Cat		family with sequence similarity 214, member A							160	158	159					15																	52877000		1863	4103	5966	SO:0001583	missense	56204							g.chr15:52877000T>G	AB037791	CCDS45263.1, CCDS66773.1	15q21.2-q21.3	2011-12-01	2011-12-01	2011-12-01	ENSG00000047346	ENSG00000047346			25609	protein-coding gene	gene with protein product			"KIAA1370"	KIAA1370		10718198	Standard	XM_005254547		Approved	FLJ10980	uc002acg.4	Q32MH5		ENST00000261844.7:c.3019A>C	15.37:g.52877000T>G	ENSP00000261844:p.Asn1007His					FAM214A_ENST00000546305.2_Missense_Mutation_p.N1014H|RP11-23N2.4_ENST00000562062.1_RNA	p.N1007H	NM_019600.2	NP_062546.2	Q32MH5	K1370_HUMAN			12	3171	-			1007					A8KA52|B4DEP5|B4DF40|F5H8G0|Q32MH6|Q4G0R7|Q5XJ16|Q6PDA3|Q9NV24|Q9P2H7	Missense_Mutation	SNP	ENST00000261844.7	37	c.3019A>C	CCDS45263.1	.	.	.	.	.	.	.	.	.	.	T	15.58	2.877114	0.51801	.	.	ENSG00000047346	ENST00000261844;ENST00000399202;ENST00000546305	T;T	0.34472	1.36;1.36	5.3	0.126	0.14722	.	0.338059	0.38326	N	0.001740	T	0.33381	0.0861	N	0.12182	0.205	0.37371	D	0.911621	D;P	0.54047	0.964;0.939	D;P	0.63703	0.917;0.827	T	0.27400	-1.0075	10	0.59425	D	0.04	.	8.6375	0.33957	0.0:0.0651:0.3721:0.5629	.	1014;1007	F5H8G0;Q32MH5	.;K1370_HUMAN	H	1007;1007;1014	ENSP00000261844:N1007H;ENSP00000443598:N1014H	ENSP00000261844:N1007H	N	-	1	0	KIAA1370	50664292	1.000000	0.71417	0.650000	0.29550	0.838000	0.47535	3.222000	0.51223	-0.160000	0.11002	-0.539000	0.04255	AAT		0.348	FAM214A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419914.1	NM_019600		14	53	0	0	0	1	0	14	53					G	52877000	T	G	52877000	3	3	67	1	0	0	0	0	1	0	0	0	8226	1754	61	5	219	5	KIAA1370	15	52877000	Missense_Mutation	SNP	T	TCGA-EJ-5519-01A-01D-1576-08	443596	52877000	49654392	91	3475											
RSPRY1	89970	broad.mit.edu	37	chr16	57243065	57243065	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	actgggaccagctgttataaCattgttactagatgaatgtc	12	13	9	7	0	0	2	0	1	0	1	1	3	0	3	1	1	3	3	1	1	5	5			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr16:57243065C>T	ENST00000537866.1	+	4	1355	c.482C>T	c.(481-483)aCa>aTa	p.T161I	RSPRY1_ENST00000394420.4_Missense_Mutation_p.T161I			Q96DX4	RSPRY_HUMAN	ring finger and SPRY domain containing 1	161						extracellular region (GO:0005576)	zinc ion binding (GO:0008270)	p.T161I(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|urinary_tract(3)	27						GCTGTTATAACATTGTTACTA	0.348																																						ENST00000537866.1																			1	Substitution - Missense(1)	p.T161I(1)	prostate(1)	endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|urinary_tract(3)	27						c.(481-483)aCa>aTa		ring finger and SPRY domain containing 1							204	192	196					16																	57243065		2198	4300	6498	SO:0001583	missense	89970					extracellular region	zinc ion binding	g.chr16:57243065C>T	AB075852	CCDS10775.1	16q13	2014-02-12			ENSG00000159579	ENSG00000159579		"RING-type (C3HC4) zinc fingers"	29420	protein-coding gene	gene with protein product						11853319	Standard	NM_133368		Approved	KIAA1972	uc002elb.3	Q96DX4	OTTHUMG00000133462	ENST00000537866.1:c.482C>T	16.37:g.57243065C>T	ENSP00000443176:p.Thr161Ile					RSPRY1_ENST00000394420.4_Missense_Mutation_p.T161I	p.T161I			Q96DX4	RSPRY_HUMAN			4	1355	+			161					Q6UX21|Q8ND53	Missense_Mutation	SNP	ENST00000537866.1	37	c.482C>T	CCDS10775.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.960623	0.74016	.	.	ENSG00000159579	ENST00000394420;ENST00000537866	T;T	0.65549	-0.16;-0.16	6.08	6.08	0.98989	.	0.000000	0.85682	D	0.000000	T	0.55878	0.1948	L	0.48877	1.53	0.80722	D	1	P	0.42456	0.78	B	0.32624	0.149	T	0.58171	-0.7683	10	0.42905	T	0.14	.	20.6721	0.99693	0.0:1.0:0.0:0.0	.	161	Q96DX4	RSPRY_HUMAN	I	161	ENSP00000377942:T161I;ENSP00000443176:T161I	ENSP00000377942:T161I	T	+	2	0	RSPRY1	55800566	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.434000	0.80377	2.894000	0.99253	0.591000	0.81541	ACA		0.348	RSPRY1-009	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432953.1	NM_133368		24	388	0	0	0	1	0	24	388					T	57243065	C	T	57243065	3	4	67	1	0	0	0	0	1	0	0	0	13713	478	17	3	492	3	RSPRY1	16	57243065	Missense_Mutation	SNP	C	TCGA-EJ-5519-01A-01D-1576-08		57243065	33111688	92	3476											
PDP2	57546	broad.mit.edu	37	chr16	66919043	66919043	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgcacgtggcaaatgctggtGactgccgagccatccttggt	7	10	13	11	2	0	1	0	1	0	0	1	2	1	1	3	3	4	3	3	3	1	1			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr16:66919043G>A	ENST00000311765.2	+	2	1190	c.856G>A	c.(856-858)Gac>Aac	p.D286N	RP11-61A14.2_ENST00000561475.1_lincRNA|PDP2_ENST00000568720.1_Intron	NM_020786.2	NP_065837.1	Q9P2J9	PDP2_HUMAN	pyruvate dehyrogenase phosphatase catalytic subunit 2	286					cellular metabolic process (GO:0044237)|peptidyl-threonine dephosphorylation (GO:0035970)|pyruvate metabolic process (GO:0006090)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)	[pyruvate dehydrogenase (lipoamide)] phosphatase activity (GO:0004741)|magnesium-dependent protein serine/threonine phosphatase activity (GO:0004724)|metal ion binding (GO:0046872)	p.D286N(1)		kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|urinary_tract(1)	12		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.088)|Epithelial(162;0.204)		AAATGCTGGTGACTGCCGAGC	0.557																																						ENST00000311765.2																			1	Substitution - Missense(1)	p.D286N(1)	prostate(1)	kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|urinary_tract(1)	12						c.(856-858)Gac>Aac		pyruvate dehyrogenase phosphatase catalytic subunit 2							91	84	86					16																	66919043		2200	4300	6500	SO:0001583	missense	57546				pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix|protein serine/threonine phosphatase complex	[pyruvate dehydrogenase (lipoamide)] phosphatase activity|metal ion binding	g.chr16:66919043G>A	AB037769	CCDS10822.1	16q22.1	2012-04-17			ENSG00000172840	ENSG00000172840		"Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"	30263	protein-coding gene	gene with protein product	"protein phosphatase 2C, magnesium-dependent, catalytic subunit 2"	615499				9651365	Standard	NM_020786		Approved	KIAA1348, PPM2C2	uc002eqk.2	Q9P2J9	OTTHUMG00000137512	ENST00000311765.2:c.856G>A	16.37:g.66919043G>A	ENSP00000309548:p.Asp286Asn					PDP2_ENST00000568720.1_Intron	p.D286N	NM_020786.2	NP_065837.1	Q9P2J9	PDP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.088)|Epithelial(162;0.204)	2	1190	+		Ovarian(137;0.0563)	286					A8K924	Missense_Mutation	SNP	ENST00000311765.2	37	c.856G>A	CCDS10822.1	.	.	.	.	.	.	.	.	.	.	G	32	5.127935	0.94473	.	.	ENSG00000172840	ENST00000311765	T	0.41758	0.99	5.62	5.62	0.85841	Protein phosphatase 2C-like (5);	0.000000	0.85682	D	0.000000	T	0.76814	0.4040	H	0.95611	3.695	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.83121	-0.0118	10	0.72032	D	0.01	-19.859	20.0274	0.97527	0.0:0.0:1.0:0.0	.	286	Q9P2J9	PDP2_HUMAN	N	286	ENSP00000309548:D286N	ENSP00000309548:D286N	D	+	1	0	PDP2	65476544	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.788000	0.99064	2.812000	0.96745	0.563000	0.77884	GAC		0.557	PDP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268831.2	NM_020786		14	70	0	0	0	1	0	14	70					A	66919043	G	A	66919043	3	1	67	1	0	0	0	0	1	0	0	0	11686	1290	45	3	858	3	PDP2	16	66919043	Missense_Mutation	SNP	G	TCGA-EJ-5519-01A-01D-1576-08	9675978	66919043	23435710	93	3477											
TMCO7	79613	broad.mit.edu	37	chr16	69056743	69056743	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcctataggagacatggtctCaaagtaccgagaacctttga	13	10	9	9	1	1	3	1	1	1	2	3	5	2	3	3	2	2	1	3	2	5	4			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr16:69056743C>G	ENST00000261778.1	+	16	2867	c.2855C>G	c.(2854-2856)tCa>tGa	p.S952*		NM_024562.1	NP_078838.1	Q9C0B7	TNG6_HUMAN	transport and golgi organization 6 homolog (Drosophila)	952						integral component of membrane (GO:0016021)		p.S952*(1)|p.S481*(1)									GACATGGTCTCAAAGTACCGA	0.438																																						ENST00000261778.1																			2	Substitution - Nonsense(2)	p.S952*(1)|p.S481*(1)	prostate(2)								c.(2854-2856)tCa>tGa		transport and golgi organization 6 homolog (Drosophila)							40	37	38					16																	69056743		1868	4103	5971	SO:0001587	stop_gained	79613							g.chr16:69056743C>G		CCDS45516.1	16q22.1	2012-12-13	2012-12-13	2012-12-13	ENSG00000103047	ENSG00000103047			25749	protein-coding gene	gene with protein product			"transmembrane and coiled-coil domains 7"	TMCO7		11214970	Standard	NM_024562		Approved	FLJ12688, KIAA1746	uc002ewi.4	Q9C0B7	OTTHUMG00000176743	ENST00000261778.1:c.2855C>G	16.37:g.69056743C>G	ENSP00000261778:p.Ser952*						p.S952*	NM_024562.1	NP_078838.1					16	2867	+								Q569F9|Q9H9K1	Nonsense_Mutation	SNP	ENST00000261778.1	37	c.2855C>G	CCDS45516.1	.	.	.	.	.	.	.	.	.	.	C	38	7.274320	0.98179	.	.	ENSG00000103047	ENST00000261778	.	.	.	4.36	4.36	0.52297	.	0.719074	0.13518	N	0.381904	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07990	T	0.79	-1.4596	6.8449	0.23982	0.0:0.7979:0.0:0.2021	.	.	.	.	X	952	.	ENSP00000261778:S952X	S	+	2	0	TMCO7	67614244	0.097000	0.21791	1.000000	0.80357	0.988000	0.76386	1.334000	0.33827	1.968000	0.57251	0.442000	0.29010	TCA		0.438	TANGO6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433471.2	XM_928235.2		3	11	0	0	0	1	0	3	11					G	69056743	C	G	69056743	4	3	67	1	0	0	0	0	0	1	0	0	15998	838	29	5	2917	5	TMCO7	16	69056743	Nonsense_Mutation	SNP	C	TCGA-EJ-5519-01A-01D-1576-08	2137700	69056743	21298010	94	3478											
RABEP1	9135	broad.mit.edu	37	chr17	5264856	5264856	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aaggcgatgacaccagaacaAgaagagacagcgtccctcct	15	4	10	12	2	0	4	0	1	0	3	2	6	2	4	3	1	2	0	3	1	4	0			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr17:5264856A>G	ENST00000546142.2	+	9	1636	c.1449A>G	c.(1447-1449)caA>caG	p.Q483Q	RABEP1_ENST00000341923.6_Silent_p.Q483Q|NUP88_ENST00000573169.1_5'UTR|RP11-420A6.2_ENST00000572792.1_RNA|RABEP1_ENST00000408982.2_Silent_p.Q483Q|RABEP1_ENST00000537505.1_Silent_p.Q440Q|RABEP1_ENST00000262477.6_Silent_p.Q483Q			Q15276	RABE1_HUMAN	rabaptin, RAB GTPase binding effector protein 1	483					apoptotic process (GO:0006915)|endocytosis (GO:0006897)|membrane fusion (GO:0061025)|protein transport (GO:0015031)	early endosome (GO:0005769)|endocytic vesicle (GO:0030139)|endosome (GO:0005768)|intracellular membrane-bounded organelle (GO:0043231)	GTPase activator activity (GO:0005096)|protein homodimerization activity (GO:0042803)	p.Q483Q(1)		NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	8						CACCAGAACAAGAAGAGACAG	0.478																																						ENST00000262477.6																			1	Substitution - coding silent(1)	p.Q483Q(1)	prostate(1)	NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	8						c.(1447-1449)caA>caG		rabaptin, RAB GTPase binding effector protein 1							124	128	126					17																	5264856		2118	4219	6337	SO:0001819	synonymous_variant	9135				apoptosis|cellular membrane fusion|endocytosis|protein transport	centrosome|early endosome|endocytic vesicle|recycling endosome	growth factor activity|GTPase activator activity|protein homodimerization activity	g.chr17:5264856A>G	AF098638	CCDS42243.1, CCDS45592.1	17p13.2	2008-02-05				ENSG00000029725			17677	protein-coding gene	gene with protein product		603616				8521472	Standard	NM_001291582		Approved	neurocrescin, RAB5EP, RABPT5, rabaptin-5	uc002gbm.4	Q15276		ENST00000546142.2:c.1449A>G	17.37:g.5264856A>G						NUP88_ENST00000573169.1_5'UTR|RABEP1_ENST00000546142.2_Silent_p.Q483Q|RABEP1_ENST00000408982.2_Silent_p.Q483Q|RABEP1_ENST00000537505.1_Silent_p.Q440Q|RABEP1_ENST00000341923.6_Silent_p.Q483Q	p.Q483Q	NM_004703.4	NP_004694.2	Q15276	RABE1_HUMAN			9	1673	+			483					B2RAG7|O95369|Q8IVX3	Silent	SNP	ENST00000546142.2	37	c.1449A>G	CCDS45592.1																																																																																				0.478	RABEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439349.1	NM_004703		40	34	0	0	0	1	0	40	34					G	5264856	A	G	5264856	2	3	67	1	0	0	0	0	0	0	0	1	12961	69	3	4		4	RABEP1	17	5264856	Silent	SNP	A	TCGA-EJ-5519-01A-01D-1576-08		5264856	75930354	95	3479											
KCNAB3	9196	broad.mit.edu	37	chr17	7827736	7827736	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggggtcacacactcaccatGatttctgcagccccccatcg	8	9	8	16	1	3	1	2	1	1	0	4	1	3	1	4	2	2	1	4	2	0	1	rs145774275	byFrequency	TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr17:7827736G>T	ENST00000303790.2	-	9	707	c.708C>A	c.(706-708)atC>atA	p.I236I		NM_004732.3	NP_004723.2	O43448	KCAB3_HUMAN	potassium voltage-gated channel, shaker-related subfamily, beta member 3	236					potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	potassium channel regulator activity (GO:0015459)|voltage-gated potassium channel activity (GO:0005249)	p.I236I(1)		breast(2)|endometrium(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)	8		Prostate(122;0.157)				CACTCACCATGATTTCTGCAG	0.572																																						ENST00000303790.2																			1	Substitution - coding silent(1)	p.I236I(1)	prostate(1)	breast(2)|endometrium(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)	8						c.(706-708)atC>atA		potassium voltage-gated channel, shaker-related subfamily, beta member 3		G		1,4405	2.1+/-5.4	0,1,2202	103	90	94		708	4.7	1	17	dbSNP_134	94	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	KCNAB3	NM_004732.2		0,2,6501	TT,TG,GG		0.0116,0.0227,0.0154		236/405	7827736	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	9196					cytoplasm|integral to membrane	oxidoreductase activity|potassium channel regulator activity|voltage-gated potassium channel activity	g.chr17:7827736G>T	AF016411	CCDS11124.1	17p13.1	2006-11-29			ENSG00000170049	ENSG00000170049		"Potassium channels", "Aldo-keto reductases"	6230	protein-coding gene	gene with protein product		604111				9857044	Standard	NM_004732		Approved	AKR6A9, KCNA3B	uc002gjm.2	O43448	OTTHUMG00000108170	ENST00000303790.2:c.708C>A	17.37:g.7827736G>T							p.I236I	NM_004732.3	NP_004723.2	O43448	KCAB3_HUMAN			9	707	-		Prostate(122;0.157)	236					Q4VAW0	Silent	SNP	ENST00000303790.2	37	c.708C>A	CCDS11124.1																																																																																				0.572	KCNAB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226974.1	NM_004732		3	57	1	0	1	1	1	3	57					T	7827736	G	T	7827736	2	4	67	1	0	0	0	0	0	0	0	1	8011	1280	45	5		5	KCNAB3	17	7827736	Silent	SNP	G	TCGA-EJ-5519-01A-01D-1576-08	2562880	7827736	73367474	96	3480											
PEMT	10400	broad.mit.edu	37	chr17	17412831	17412831	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aaggggaacacggtcactctCgcctccttgaggatcccgaa	10	7	11	13	3	2	1	1	1	1	0	5	4	4	3	3	4	1	0	3	4	3	1			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr17:17412831C>T	ENST00000395783.1	-	5	563	c.384G>A	c.(382-384)gcG>gcA	p.A128A	PEMT_ENST00000395781.2_Silent_p.A165A|PEMT_ENST00000484838.2_5'UTR|PEMT_ENST00000435340.2_Silent_p.A143A|RP11-524F11.1_ENST00000582325.1_RNA|PEMT_ENST00000255389.5_Silent_p.A165A|PEMT_ENST00000395782.1_Silent_p.A128A	NM_007169.2	NP_009100.2	Q9UBM1	PEMT_HUMAN	phosphatidylethanolamine N-methyltransferase	128					cell proliferation (GO:0008283)|glycerophospholipid biosynthetic process (GO:0046474)|lipid metabolic process (GO:0006629)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	phosphatidyl-N-dimethylethanolamine N-methyltransferase activity (GO:0080101)|phosphatidyl-N-methylethanolamine N-methyltransferase activity (GO:0000773)|phosphatidylethanolamine N-methyltransferase activity (GO:0004608)	p.A165A(1)		endometrium(1)|kidney(1)|large_intestine(2)|prostate(3)	7				Colorectal(2;0.0157)|READ - Rectum adenocarcinoma(2;0.0891)		CGGTCACTCTCGCCTCCTTGA	0.592																																						ENST00000395781.2																			1	Substitution - coding silent(1)	p.A165A(1)	prostate(1)	endometrium(1)|kidney(1)|large_intestine(2)|prostate(3)	7						c.(493-495)gcG>gcA		phosphatidylethanolamine N-methyltransferase							185	142	157					17																	17412831		2203	4300	6503	SO:0001819	synonymous_variant	10400				cell proliferation|phosphatidylcholine biosynthetic process	endoplasmic reticulum membrane|integral to membrane|mitochondrial membrane	phosphatidylethanolamine N-methyltransferase activity	g.chr17:17412831C>T	AF176806	CCDS11186.1, CCDS11187.1, CCDS58520.1	17p11.2	2008-02-05			ENSG00000133027	ENSG00000133027	2.1.1.17		8830	protein-coding gene	gene with protein product		602391				9989271, 17881348	Standard	NM_148173		Approved	PEMPT, PEMT2	uc002grl.4	Q9UBM1	OTTHUMG00000059290	ENST00000395783.1:c.384G>A	17.37:g.17412831C>T						PEMT_ENST00000395783.1_Silent_p.A128A|PEMT_ENST00000484838.2_5'UTR|PEMT_ENST00000395782.1_Silent_p.A128A|PEMT_ENST00000435340.2_Silent_p.A143A|PEMT_ENST00000255389.5_Silent_p.A165A	p.A165A	NM_001267552.1	NP_001254481.1	Q9UBM1	PEMT_HUMAN		Colorectal(2;0.0157)|READ - Rectum adenocarcinoma(2;0.0891)	5	576	-			128					A8MZ66|B4DY41|D3DXC3|Q6IAQ5|Q86VL3|Q9BW86|Q9UHY6|Q9Y6V9	Silent	SNP	ENST00000395783.1	37	c.495G>A	CCDS11187.1																																																																																				0.592	PEMT-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131657.1	NM_007169		11	72	0	0	0	1	0	11	72					T	17412831	C	T	17412831	2	4	67	1	0	0	0	0	0	0	0	1	11726	871	31	2		2	PEMT	17	17412831	Silent	SNP	C	TCGA-EJ-5519-01A-01D-1576-08	9585095	17412831	63782379	97	3481											
MFAP4	4239	broad.mit.edu	37	chr17	19288435	19288435	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccccgccatcctcaaagcctGccacaaagagggtgtagcca	11	5	9	16	1	1	1	1	0	0	1	2	1	2	1	7	1	3	1	7	1	3	1			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr17:19288435G>A	ENST00000299610.4	-	5	581	c.497C>T	c.(496-498)gCa>gTa	p.A166V	MFAP4_ENST00000574313.2_5'Flank|MFAP4_ENST00000497081.2_Missense_Mutation_p.A191V|MFAP4_ENST00000395592.2_Missense_Mutation_p.A190V	NM_002404.2	NP_002395.1	P55083	MFAP4_HUMAN	microfibrillar-associated protein 4	166	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				cell adhesion (GO:0007155)|cellular response to UV-B (GO:0071493)|elastic fiber assembly (GO:0048251)|extracellular fibril organization (GO:0043206)|extracellular matrix organization (GO:0030198)|regulation of collagen metabolic process (GO:0010712)|UV protection (GO:0009650)	elastic fiber (GO:0071953)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|microfibril (GO:0001527)		p.A166V(1)		large_intestine(1)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)	10	all_cancers(12;2.87e-05)|all_epithelial(12;0.00114)|Hepatocellular(7;0.00345)|Breast(13;0.206)					CTCAAAGCCTGCCACAAAGAG	0.602																																						ENST00000395592.2																			1	Substitution - Missense(1)	p.A166V(1)	prostate(1)	large_intestine(1)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)	10						c.(568-570)gCa>gTa		microfibrillar-associated protein 4							129	105	113					17																	19288435		2203	4300	6503	SO:0001583	missense	4239				cell adhesion|signal transduction	microfibril	receptor binding	g.chr17:19288435G>A	L38486	CCDS11208.1, CCDS56023.1	17p11.2	2013-02-06			ENSG00000166482	ENSG00000166482		"Fibrinogen C domain containing"	7035	protein-coding gene	gene with protein product	"microfibril-associated glycoprotein 4"	600596				7633408	Standard	NM_001198695		Approved		uc002gvs.3	P55083	OTTHUMG00000059585	ENST00000299610.4:c.497C>T	17.37:g.19288435G>A	ENSP00000299610:p.Ala166Val					MFAP4_ENST00000497081.2_Missense_Mutation_p.A191V|MFAP4_ENST00000299610.4_Missense_Mutation_p.A166V	p.A190V	NM_001198695.1	NP_001185624.1	P55083	MFAP4_HUMAN			5	640	-	all_cancers(12;2.87e-05)|all_epithelial(12;0.00114)|Hepatocellular(7;0.00345)|Breast(13;0.206)		166			Fibrinogen C-terminal.		A8KAJ1|A8MVM2|B4E317|Q6P680	Missense_Mutation	SNP	ENST00000299610.4	37	c.569C>T	CCDS11208.1	.	.	.	.	.	.	.	.	.	.	g	13.85	2.360265	0.41801	.	.	ENSG00000166482	ENST00000395592;ENST00000299610	T;T	0.77620	-1.11;-1.11	5.0	4.02	0.46733	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (4);Fibrinogen, alpha/beta/gamma chain, C-terminal globular, subdomain 1 (1);	0.749735	0.12134	N	0.496459	T	0.64735	0.2625	N	0.17872	0.535	0.09310	N	1	B;B	0.32365	0.149;0.367	B;B	0.33960	0.124;0.173	T	0.58797	-0.7573	10	0.72032	D	0.01	.	8.3656	0.32385	0.0:0.1709:0.652:0.1771	.	166;190	P55083;A8MVM2	MFAP4_HUMAN;.	V	190;166	ENSP00000378957:A190V;ENSP00000299610:A166V	ENSP00000299610:A166V	A	-	2	0	MFAP4	19229028	0.000000	0.05858	0.895000	0.35142	0.808000	0.45660	0.269000	0.18589	1.326000	0.45319	-0.323000	0.08544	GCA		0.602	MFAP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132493.2	NM_002404		34	37	0	0	0	1	0	34	37					A	19288435	G	A	19288435	3	1	67	1	0	0	0	0	1	0	0	0	9517	1319	46	3	278	3	MFAP4	17	19288435	Missense_Mutation	SNP	G	TCGA-EJ-5519-01A-01D-1576-08	1875604	19288435	61906775	98	3482											
SEPT4	5414	broad.mit.edu	37	chr17	56598642	56598642	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gatgccccaggggtagagtcGaccccgaactcgccgccctc	7	5	12	17	4	0	1	0	0	0	1	3	4	0	1	6	2	2	1	6	2	2	1			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr17:56598642G>A	ENST00000317268.3	-	9	1263	c.1087C>T	c.(1087-1089)Cga>Tga	p.R363*	SEPT4_ENST00000426861.1_3'UTR|SEPT4_ENST00000457347.2_Nonsense_Mutation_p.R378*|SEPT4_ENST00000412945.3_Nonsense_Mutation_p.R355*|SEPT4_ENST00000579371.1_Nonsense_Mutation_p.R264*|SEPT4_ENST00000580844.1_Nonsense_Mutation_p.R264*|SEPT4_ENST00000393086.1_Nonsense_Mutation_p.R344*|SEPT4_ENST00000583114.1_Nonsense_Mutation_p.R216*|SEPT4_ENST00000317256.6_Nonsense_Mutation_p.R344*|RP11-112H10.4_ENST00000580589.1_RNA	NM_004574.3	NP_004565.1	O43236	SEPT4_HUMAN	septin 4	363	Septin-type G.				apoptotic process (GO:0006915)|brain development (GO:0007420)|cell cycle (GO:0007049)|cell division (GO:0051301)|GTP catabolic process (GO:0006184)|positive regulation of apoptotic process (GO:0043065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of protein ubiquitination (GO:0031398)|regulation of apoptotic process (GO:0042981)|sperm capacitation (GO:0048240)|sperm mitochondrion organization (GO:0030382)	cytoskeleton (GO:0005856)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|sperm annulus (GO:0097227)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural molecule activity (GO:0005198)	p.R363*(1)		NS(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	18	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GGGTAGAGTCGACCCCGAACT	0.582											OREG0024614	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000457347.2																			1	Substitution - Nonsense(1)	p.R363*(1)	prostate(1)	NS(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	18						c.(1132-1134)Cga>Tga		septin 4							77	69	72					17																	56598642		2203	4300	6503	SO:0001587	stop_gained	5414				apoptosis|cell cycle|cytokinesis|regulation of apoptosis	cytoskeleton|mitochondrion|nucleus	GTP binding|GTPase activity|protein binding|structural molecule activity	g.chr17:56598642G>A	AF073312	CCDS11609.1, CCDS11610.1, CCDS45743.1, CCDS56041.1, CCDS58581.1, CCDS58582.1	17q22	2013-01-21	2005-01-11	2005-01-12	ENSG00000108387	ENSG00000108387		"Septins"	9165	protein-coding gene	gene with protein product	"bradeoin", "septin-M"	603696	"peanut-like 2 (Drosophila)"	PNUTL2		9889007	Standard	NM_001198713		Approved	H5, CE5B3, hucep-7, ARTS, hCDCREL-2, MART	uc002iwm.2	O43236		ENST00000317268.3:c.1087C>T	17.37:g.56598642G>A	ENSP00000321674:p.Arg363*		OREG0024614	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1016	SEPT4_ENST00000583114.1_Nonsense_Mutation_p.R216*|SEPT4_ENST00000580844.1_Nonsense_Mutation_p.R264*|SEPT4_ENST00000426861.1_3'UTR|SEPT4_ENST00000412945.3_Nonsense_Mutation_p.R355*|SEPT4_ENST00000393086.1_Nonsense_Mutation_p.R344*|SEPT4_ENST00000579371.1_Nonsense_Mutation_p.R264*|RP11-112H10.4_ENST00000580589.1_RNA|SEPT4_ENST00000317268.3_Nonsense_Mutation_p.R363*|SEPT4_ENST00000317256.6_Nonsense_Mutation_p.R344*	p.R378*	NM_001256782.1	NP_001243711.1	O43236	SEPT4_HUMAN			10	1276	-	Medulloblastoma(34;0.127)|all_neural(34;0.237)		363					B2RD42|B3KSX9|B4DXC6|B4DXV5|Q6IAP3|Q9H315|Q9UM58	Nonsense_Mutation	SNP	ENST00000317268.3	37	c.1132C>T	CCDS11610.1	.	.	.	.	.	.	.	.	.	.	G	23.9	4.468254	0.84533	.	.	ENSG00000108387	ENST00000412945;ENST00000457347;ENST00000317256;ENST00000317268;ENST00000393086	.	.	.	5.66	4.64	0.57946	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.1152	0.59295	0.0:0.0:0.8391:0.1608	.	.	.	.	X	355;377;344;363;344	.	ENSP00000321071:R344X	R	-	1	2	SEPT4	53953641	1.000000	0.71417	0.996000	0.52242	0.997000	0.91878	6.696000	0.74598	2.657000	0.90304	0.655000	0.94253	CGA		0.582	SEPT4-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000445420.1	NM_080417		13	95	0	0	0	1	0	13	95					A	56598642	G	A	56598642	4	1	67	1	0	0	0	0	0	1	0	0	14066	1066	37	2	365	2	SEPT4	17	56598642	Nonsense_Mutation	SNP	G	TCGA-EJ-5519-01A-01D-1576-08	37310207	56598642	24596568	99	3483											
TUBD1	51174	broad.mit.edu	37	chr17	57955539	57955539	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cacacttcccagctgatgtgCgaggacttgattgatatcac	10	11	9	11	1	1	3	1	3	0	0	2	5	2	4	1	1	2	1	1	1	1	4	rs373399411		TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr17:57955539C>T	ENST00000592426.1	-	4	694	c.694G>A	c.(694-696)Gca>Aca	p.A232T	TUBD1_ENST00000340993.6_Missense_Mutation_p.A232T|TUBD1_ENST00000325752.3_Missense_Mutation_p.A232T|TUBD1_ENST00000591611.1_5'Flank|TUBD1_ENST00000346141.6_Intron|TUBD1_ENST00000376094.4_Missense_Mutation_p.A232T|TUBD1_ENST00000539018.1_Missense_Mutation_p.A16T|TUBD1_ENST00000394239.3_Missense_Mutation_p.A232T			Q9UJT1	TBD_HUMAN	tubulin, delta 1	232					cell differentiation (GO:0030154)|microtubule-based process (GO:0007017)|multicellular organismal development (GO:0007275)|protein polymerization (GO:0051258)|spermatogenesis (GO:0007283)	centriole (GO:0005814)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)	p.A232T(1)		NS(2)|breast(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|skin(1)|stomach(2)	21	all_cancers(5;3.18e-13)|Breast(5;2.91e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;9.34e-13)|all cancers(12;1.91e-11)		Vinblastine(DB00570)	AGCTGATGTGCGAGGACTTGA	0.418																																						ENST00000325752.3																			1	Substitution - Missense(1)	p.A232T(1)	prostate(1)	NS(2)|breast(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|skin(1)|stomach(2)	21						c.(694-696)Gca>Aca		tubulin, delta 1		C	THR/ALA,THR/ALA,THR/ALA,THR/ALA,THR/ALA,THR/ALA	0,4406		0,0,2203	193	155	168		694,694,694,337,46,694	5.7	1	17		168	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense,missense,missense	TUBD1	NM_001193609.1,NM_001193610.1,NM_001193611.1,NM_001193612.1,NM_001193613.1,NM_016261.3	58,58,58,58,58,58	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign,benign,benign,benign,benign,benign	232/399,232/397,232/352,113/280,16/238,232/454	57955539	1,13005	2203	4300	6503	SO:0001583	missense	51174				cell differentiation|microtubule-based movement|multicellular organismal development|protein polymerization|spermatogenesis	centriole|microtubule|nucleus	GTP binding|GTPase activity|structural molecule activity	g.chr17:57955539C>T	AF201333	CCDS11620.1, CCDS54151.1, CCDS54152.1, CCDS54153.1, CCDS54154.1	17q23.1	2007-03-16						"Tubulins"	16811	protein-coding gene	gene with protein product		607344				10620804	Standard	NM_016261		Approved	FLJ12709, TUBD	uc002ixw.2	Q9UJT1		ENST00000592426.1:c.694G>A	17.37:g.57955539C>T	ENSP00000468518:p.Ala232Thr					TUBD1_ENST00000394239.3_Missense_Mutation_p.A232T|TUBD1_ENST00000539018.1_Missense_Mutation_p.A16T|TUBD1_ENST00000376094.4_Missense_Mutation_p.A232T|TUBD1_ENST00000346141.6_Intron|TUBD1_ENST00000340993.6_Missense_Mutation_p.A232T|TUBD1_ENST00000592426.1_Missense_Mutation_p.A232T	p.A232T	NM_016261.3	NP_057345.2	Q9UJT1	TBD_HUMAN	Epithelial(12;9.34e-13)|all cancers(12;1.91e-11)		5	971	-	all_cancers(5;3.18e-13)|Breast(5;2.91e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		232					B4DPT8|B4DW01|D3DU02|E9PCA7|E9PCQ8|Q5KU36|Q9BWG9|Q9H7Z8	Missense_Mutation	SNP	ENST00000592426.1	37	c.694G>A	CCDS11620.1	.	.	.	.	.	.	.	.	.	.	C	27.1	4.797715	0.90538	0.0	1.16E-4	ENSG00000108423	ENST00000325752;ENST00000340993;ENST00000394239;ENST00000376094;ENST00000539018	T;T;T;T	0.71461	-0.57;-0.57;-0.57;-0.57	5.69	5.69	0.88448	Tubulin/FtsZ, GTPase domain (3);	0.047074	0.85682	D	0.000000	D	0.82875	0.5132	M	0.76838	2.35	0.58432	D	0.999999	P;D;D;D;D	0.64830	0.917;0.991;0.994;0.994;0.973	B;P;P;P;B	0.57548	0.317;0.545;0.603;0.823;0.406	D	0.84672	0.0712	10	0.87932	D	0	-14.7616	19.8108	0.96545	0.0:1.0:0.0:0.0	.	232;232;232;232;232	E9PCA7;Q5KU37;E9PCQ8;Q9UJT1-2;Q9UJT1	.;.;.;.;TBD_HUMAN	T	232;232;232;232;16	ENSP00000320797:A232T;ENSP00000342399:A232T;ENSP00000377785:A232T;ENSP00000365262:A232T	ENSP00000320797:A232T	A	-	1	0	TUBD1	55310321	1.000000	0.71417	0.997000	0.53966	0.985000	0.73830	5.638000	0.67861	2.678000	0.91216	0.555000	0.69702	GCA		0.418	TUBD1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448815.1	NM_016261		47	120	0	0	0	1	0	47	120					T	57955539	C	T	57955539	3	4	67	1	0	0	0	0	1	0	0	0	16759	768	27	1	687	1	TUBD1	17	57955539	Missense_Mutation	SNP	C	TCGA-EJ-5519-01A-01D-1576-08	1356897	57955539	23239671	100	3484											
PSMG2	56984	broad.mit.edu	37	chr18	12706677	12706677	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttggaaacaatccatatgcGaccacagaaggaaattcaac	17	7	8	9	1	1	1	1	0	0	1	2	4	2	3	2	2	3	1	2	2	6	3			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr18:12706677G>T	ENST00000317615.6	+	2	868	c.186G>T	c.(184-186)gcG>gcT	p.A62A	PSMG2_ENST00000585331.2_Silent_p.A31A|PSMG2_ENST00000590217.1_Silent_p.A62A	NM_020232.4	NP_064617.2			proteasome (prosome, macropain) assembly chaperone 2									p.A62A(1)		lung(1)|prostate(2)|skin(1)	4						ATCCATATGCGACCACAGAAG	0.348																																						ENST00000317615.6																			1	Substitution - coding silent(1)	p.A62A(1)	prostate(1)	lung(1)|prostate(2)|skin(1)	4						c.(184-186)gcG>gcT		proteasome (prosome, macropain) assembly chaperone 2							138	126	130					18																	12706677		2203	4300	6503	SO:0001819	synonymous_variant	56984				proteasome assembly	nucleus	protein binding	g.chr18:12706677G>T	AF276707	CCDS11862.1, CCDS67440.1	18p11.21	2012-01-25	2007-10-23	2007-10-23	ENSG00000128789	ENSG00000128789			24929	protein-coding gene	gene with protein product	"hepatocellular carcinoma susceptibility protein", "CD40 ligand-activated specific transcript 3"	609702	"tumor necrosis factor superfamily, member 5-induced protein 1"	TNFSF5IP1		11854909, 12147697, 17189198	Standard	NM_147163		Approved	HCCA3, MDS003, MGC15092, CLAST3, HsT1707, PAC2	uc002krk.3	Q969U7	OTTHUMG00000131703	ENST00000317615.6:c.186G>T	18.37:g.12706677G>T						PSMG2_ENST00000590217.1_Silent_p.A62A|RP11-973H7.2_ENST00000585331.1_RNA	p.A62A	NM_020232.4|NM_147163.1	NP_064617.2|NP_671692.1	Q969U7	PSMG2_HUMAN			2	868	+			62						Silent	SNP	ENST00000317615.6	37	c.186G>T	CCDS11862.1																																																																																				0.348	PSMG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254615.1	NM_020232		48	50	1	0	4.64027e-19	1	5.26173e-19	48	50					T	12706677	G	T	12706677	2	4	67	1	0	0	0	0	0	0	0	1	12712	1045	37	5		5	PSMG2	18	12706677	Silent	SNP	G	TCGA-EJ-5519-01A-01D-1576-08		12706677	65370571	101	3485											
ROCK1	6093	broad.mit.edu	37	chr18	18690838	18690839	+	In_Frame_Ins	INS	-	-	AAA																															agcaggttgtccattttttcINSaaatcgagtctcaaaactgt																										TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr18:18690838_18690839insAAA	ENST00000399799.2	-	1	973_974	c.33_34insTTT	c.(31-36)tttgaa>tttTTTgaa	p.11_12insF		NM_005406.2	NP_005397.1	Q13464	ROCK1_HUMAN	Rho-associated, coiled-coil containing protein kinase 1	11					actin cytoskeleton organization (GO:0030036)|apical constriction (GO:0003383)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|bleb assembly (GO:0032060)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte tethering or rolling (GO:0050901)|membrane to membrane docking (GO:0022614)|myoblast migration (GO:0051451)|negative regulation of angiogenesis (GO:0016525)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of focal adhesion assembly (GO:0051894)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell adhesion (GO:0030155)|regulation of cell motility (GO:2000145)|regulation of establishment of cell polarity (GO:2000114)|regulation of focal adhesion assembly (GO:0051893)|regulation of keratinocyte differentiation (GO:0045616)|regulation of stress fiber assembly (GO:0051492)|Rho protein signal transduction (GO:0007266)|signal transduction (GO:0007165)|smooth muscle contraction (GO:0006939)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(4)|central_nervous_system(1)|large_intestine(8)|lung(2)	16	Melanoma(1;0.165)					TCCATTTTTTCAAATCGAGTCT	0.485																																						ENST00000399799.1																			0				NS(1)|breast(4)|central_nervous_system(1)|large_intestine(8)|lung(2)	16						c.(31-36)ttaaaa>ttTTTaaaa		Rho-associated, coiled-coil containing protein kinase 1																																				SO:0001652	inframe_insertion	6093				actin cytoskeleton organization|axon guidance|cellular component disassembly involved in apoptosis|cytokinesis|leukocyte tethering or rolling|membrane to membrane docking|Rho protein signal transduction	centriole|cytosol|Golgi membrane	ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity	g.chr18:18690838_18690839insAAA		CCDS11870.2	18q11.2	2013-01-10			ENSG00000067900	ENSG00000067900	2.7.11.1	"Pleckstrin homology (PH) domain containing"	10251	protein-coding gene	gene with protein product		601702				8617235	Standard	NM_005406		Approved	p160ROCK	uc002kte.3	Q13464	OTTHUMG00000131723	ENST00000399799.2:c.31_33dupTTT	18.37:g.18690839_18690841dupAAA	ENSP00000382697:p.Phe11_Phe11dup						p.11_12insF	NM_005406.2	NP_005397.1	Q13464	ROCK1_HUMAN			1	973_974	-	Melanoma(1;0.165)		11					B0YJ91|Q2KHM4|Q59GZ4	In_Frame_Ins	INS	ENST00000399799.2	37	c.33_34insTTT	CCDS11870.2																																																																																				0.485	ROCK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254641.2	NM_005406		43	140						43	140	---	---	---	---	AAA	18690839	-	AAA	18690838	7	5	67	1	0	1	1	0	0	0	0	0	13517	835	29	0	4162	0	ROCK1	18	18690838	In_Frame_Ins	INS	-	TCGA-EJ-5519-01A-01D-1576-08	5984161	18690838	59386410	102	3486											
ZNF556	80032	broad.mit.edu	37	chr19	2878237	2878237	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggacagaagcccagtaaatgCgaaaaatgtgggaaagcttt	16	7	12	6	1	0	1	0	0	0	1	0	4	0	3	1	2	3	2	1	2	6	2	rs540339084		TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr19:2878237C>T	ENST00000307635.2	+	4	1368	c.1281C>T	c.(1279-1281)tgC>tgT	p.C427C	ZNF556_ENST00000586426.1_Silent_p.C426C	NM_024967.1	NP_079243.1	Q9HAH1	ZN556_HUMAN	zinc finger protein 556	427					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.C427C(4)		endometrium(2)|kidney(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(3)|skin(7)	31				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCAGTAAATGCGAAAAATGTG	0.448																																						ENST00000586426.1																			4	Substitution - coding silent(4)	p.C427C(4)	large_intestine(2)|prostate(1)|endometrium(1)	endometrium(2)|kidney(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(3)|skin(7)	31						c.(1276-1278)tgC>tgT		zinc finger protein 556							101	112	108					19																	2878237		2203	4300	6503	SO:0001819	synonymous_variant	80032				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:2878237C>T	BC009374	CCDS12097.1, CCDS74254.1	19p13.3	2013-09-20			ENSG00000172000	ENSG00000172000		"Zinc fingers, C2H2-type", "-"	25669	protein-coding gene	gene with protein product						12477932	Standard	XM_005259647		Approved	FLJ11637	uc002lwp.1	Q9HAH1	OTTHUMG00000180501	ENST00000307635.2:c.1281C>T	19.37:g.2878237C>T						ZNF556_ENST00000307635.2_Silent_p.C427C	p.C426C			Q9HAH1	ZN556_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	4	1365	+			427					Q96GM3	Silent	SNP	ENST00000307635.2	37	c.1278C>T	CCDS12097.1																																																																																				0.448	ZNF556-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000451638.2	NM_024967		5	192	0	0	0	1	0	5	192					T	2878237	C	T	2878237	2	4	67	1	0	0	0	0	0	0	0	1	17984	776	27	1		1	ZNF556	19	2878237	Silent	SNP	C	TCGA-EJ-5519-01A-01D-1576-08		2878237	56250746	103	3487											
CHAF1A	10036	broad.mit.edu	37	chr19	4432096	4432096	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctgacagagactgcgcaggcGatgacctgaaggtactgcag	11	6	14	10	2	0	4	0	3	0	1	0	6	0	4	1	2	3	3	1	2	2	1	rs375548057		TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr19:4432096G>A	ENST00000301280.5	+	12	2196	c.2095G>A	c.(2095-2097)Gat>Aat	p.D699N	CTB-50L17.5_ENST00000590159.1_RNA|CHAF1A_ENST00000587368.1_3'UTR	NM_005483.2	NP_005474	Q13111	CAF1A_HUMAN	chromatin assembly factor 1, subunit A (p150)	699	Binds to p60.				cell cycle (GO:0007049)|chromatin assembly (GO:0031497)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication-dependent nucleosome assembly (GO:0006335)|protein complex assembly (GO:0006461)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	CAF-1 complex (GO:0033186)|nuclear chromatin (GO:0000790)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|identical protein binding (GO:0042802)|unfolded protein binding (GO:0051082)	p.D699N(1)		breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	27		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18)		CTGCGCAGGCGATGACCTGAA	0.637								Chromatin Structure																														ENST00000301280.5																			1	Substitution - Missense(1)	p.D699N(1)	prostate(1)	breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	27						c.(2095-2097)Gat>Aat	Chromatin Structure	chromatin assembly factor 1, subunit A (p150)		G	ASN/ASP	0,4406		0,0,2203	74	64	68		2095	-0.7	0	19		68	1,8599		0,1,4299	no	missense	CHAF1A	NM_005483.2	23	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging	699/957	4432096	1,13005	2203	4300	6503	SO:0001583	missense	10036				cell cycle|DNA repair|DNA replication|DNA replication-dependent nucleosome assembly|protein complex assembly|regulation of transcription, DNA-dependent|transcription, DNA-dependent	CAF-1 complex|WINAC complex	chromatin binding|chromo shadow domain binding|unfolded protein binding	g.chr19:4432096G>A	U20979	CCDS32875.1	19p13.3	2008-07-16				ENSG00000167670			1910	protein-coding gene	gene with protein product	"chromatin assembly factor I (150 kDa)"	601246				7600578	Standard	NM_005483		Approved	CAF1P150, CAF1B, CAF-1, CAF1, P150, MGC71229	uc002mal.3	Q13111		ENST00000301280.5:c.2095G>A	19.37:g.4432096G>A	ENSP00000301280:p.Asp699Asn					CHAF1A_ENST00000587368.1_3'UTR	p.D699N	NM_005483.2	NP_005474.2	Q13111	CAF1A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18)	12	2196	+		Hepatocellular(1079;0.137)	699			Binds to p60.		Q6NXG5|Q7Z7K3|Q9UJY8	Missense_Mutation	SNP	ENST00000301280.5	37	c.2095G>A	CCDS32875.1	.	.	.	.	.	.	.	.	.	.	G	10.56	1.385708	0.25031	0.0	1.16E-4	ENSG00000167670	ENST00000344143;ENST00000535117;ENST00000301280	T	0.25912	1.77	4.38	-0.742	0.11108	.	.	.	.	.	T	0.10380	0.0254	N	0.08118	0	0.09310	N	1	D	0.59767	0.986	B	0.41571	0.36	T	0.16897	-1.0387	9	0.87932	D	0	-4.0523	1.9912	0.03447	0.1656:0.1116:0.3828:0.34	.	699	Q13111	CAF1A_HUMAN	N	699	ENSP00000301280:D699N	ENSP00000301280:D699N	D	+	1	0	CHAF1A	4383096	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.047000	0.11963	0.167000	0.19631	0.655000	0.94253	GAT		0.637	CHAF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458310.2	NM_005483		14	65	0	0	0	1	0	14	65					A	4432096	G	A	4432096	3	1	67	1	0	0	0	0	1	0	0	0	3311	1058	37	2	2141	2	CHAF1A	19	4432096	Missense_Mutation	SNP	G	TCGA-EJ-5519-01A-01D-1576-08	1553859	4432096	54696887	104	3488											
EMR2	30817	broad.mit.edu	37	chr19	14865794	14865794	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cgtagtgggccatgaggacgGcaaagctgctcaggtgggtg	8	7	18	8	2	1	1	1	1	0	0	1	2	1	2	1	5	2	4	1	5	2	1	rs146763976		TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr19:14865794G>A	ENST00000315576.3	-	14	2013	c.1562C>T	c.(1561-1563)gCc>gTc	p.A521V	EMR2_ENST00000594076.1_Missense_Mutation_p.A428V|EMR2_ENST00000353005.1_Missense_Mutation_p.A379V|EMR2_ENST00000601345.1_Missense_Mutation_p.A510V|EMR2_ENST00000594294.1_Missense_Mutation_p.A472V|EMR2_ENST00000392965.3_Intron|EMR2_ENST00000392967.2_Missense_Mutation_p.A510V|EMR2_ENST00000353876.1_Missense_Mutation_p.A428V|EMR2_ENST00000346057.1_Missense_Mutation_p.A472V|EMR2_ENST00000595839.1_Missense_Mutation_p.A379V|EMR2_ENST00000596991.2_Missense_Mutation_p.A510V|EMR2_ENST00000392964.3_Silent_p.C185C	NM_013447.3	NP_038475.2	Q9UHX3	EMR2_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 2	521	GPS. {ECO:0000255|PROSITE- ProRule:PRU00098}.				cell adhesion (GO:0007155)|cell migration (GO:0016477)|G-protein coupled receptor signaling pathway (GO:0007186)|granulocyte chemotaxis (GO:0071621)|inflammatory response (GO:0006954)|neuropeptide signaling pathway (GO:0007218)	cell projection (GO:0042995)|integral component of membrane (GO:0016021)|leading edge membrane (GO:0031256)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|chondroitin sulfate binding (GO:0035374)|G-protein coupled receptor activity (GO:0004930)	p.A521V(1)		breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	48						CATGAGGACGGCAAAGCTGCT	0.572																																						ENST00000315576.3																			1	Substitution - Missense(1)	p.A521V(1)	prostate(1)	breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	48						c.(1561-1563)gCc>gTc		egf-like module containing, mucin-like, hormone receptor-like 2		G	VAL/ALA,VAL/ALA,VAL/ALA,VAL/ALA,VAL/ALA,VAL/ALA,VAL/ALA	1,4405	2.1+/-5.4	0,1,2202	160	120	134		1562,1415,1283,1136,1529,1382,1250	4.1	1	19	dbSNP_134	134	0,8600		0,0,4300	no	missense,missense,missense,missense,missense,missense,missense	EMR2	NM_013447.2,NM_152916.1,NM_152917.1,NM_152918.1,NM_152919.1,NM_152920.1,NM_152921.1	64,64,64,64,64,64,64	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	521/824,472/775,428/731,379/682,510/813,461/764,417/720	14865794	1,13005	2203	4300	6503	SO:0001583	missense	30817				cell adhesion|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr19:14865794G>A	AF114491	CCDS32935.1, CCDS59361.1	19p13.1	2014-08-08	2003-11-26			ENSG00000127507		"CD molecules", "-", "GPCR / Class B : Orphans"	3337	protein-coding gene	gene with protein product		606100	"egf-like module containing, mucin-like, hormone receptor-like sequence 2"				Standard	NM_013447		Approved	CD312	uc002mzp.2	Q9UHX3		ENST00000315576.3:c.1562C>T	19.37:g.14865794G>A	ENSP00000319883:p.Ala521Val					EMR2_ENST00000595839.1_Missense_Mutation_p.A379V|EMR2_ENST00000392967.2_Missense_Mutation_p.A510V|EMR2_ENST00000346057.1_Missense_Mutation_p.A472V|EMR2_ENST00000594294.1_Missense_Mutation_p.A472V|EMR2_ENST00000392965.3_Intron|EMR2_ENST00000601345.1_Missense_Mutation_p.A510V|EMR2_ENST00000353876.1_Missense_Mutation_p.A428V|EMR2_ENST00000594076.1_Missense_Mutation_p.A428V|EMR2_ENST00000596991.2_Missense_Mutation_p.A510V|EMR2_ENST00000392964.3_Silent_p.C185C|EMR2_ENST00000353005.1_Missense_Mutation_p.A379V	p.A521V	NM_013447.2	NP_038475.2	Q9UHX3	EMR2_HUMAN			14	2013	-			521			GPS.		B4DQ96|E7ESD7|E9PBR1|E9PEL6|E9PFQ5|E9PG91|Q8NG96|Q9Y4B1	Missense_Mutation	SNP	ENST00000315576.3	37	c.1562C>T	CCDS32935.1	.	.	.	.	.	.	.	.	.	.	G	16.27	3.075929	0.55646	2.27E-4	0.0	ENSG00000127507	ENST00000315576;ENST00000392967;ENST00000346057;ENST00000353876;ENST00000353005	T;T;T;T;T	0.78003	-1.14;-1.14;-1.14;-1.14;-1.14	4.05	4.05	0.47172	GPS domain (3);	.	.	.	.	D	0.90342	0.6978	H	0.94771	3.58	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;0.999	D;D;D;D;D;D;D	0.97110	0.998;0.998;1.0;0.998;0.999;0.999;0.995	D	0.92444	0.5964	9	0.87932	D	0	.	12.4281	0.55559	0.0:0.0:1.0:0.0	.	428;521;379;472;521;521;510	Q9UHX3-4;A0JNV7;Q9UHX3-5;Q9UHX3-3;A8K6W1;Q9UHX3;Q9UHX3-2	.;.;.;.;.;EMR2_HUMAN;.	V	521;510;472;428;379	ENSP00000319883:A521V;ENSP00000376694:A510V;ENSP00000263380:A472V;ENSP00000319454:A428V;ENSP00000319838:A379V	ENSP00000319883:A521V	A	-	2	0	EMR2	14726794	1.000000	0.71417	0.957000	0.39632	0.010000	0.07245	6.542000	0.73869	2.172000	0.68678	0.508000	0.49915	GCC		0.572	EMR2-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000466502.2			5	103	0	0	0	1	0	5	103					A	14865794	G	A	14865794	3	1	67	1	0	0	0	0	1	0	0	0	5105	1203	42	3	941	3	EMR2	19	14865794	Missense_Mutation	SNP	G	TCGA-EJ-5519-01A-01D-1576-08	10433698	14865794	44263189	105	3489											
OR7C1	26664	broad.mit.edu	37	chr19	14910838	14910838	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agcaggttcccggtgaaagtGactaggtacatggagaggaa	13	7	15	6	1	0	3	0	2	0	1	1	5	1	4	1	5	2	3	1	5	4	3			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr19:14910838G>C	ENST00000248073.2	-	1	185	c.111C>G	c.(109-111)gtC>gtG	p.V37V	OR7A5_ENST00000601611.1_Intron	NM_198944.1	NP_945182.1	O76099	OR7C1_HUMAN	olfactory receptor, family 7, subfamily C, member 1	37					spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V37V(1)		breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(2)|ovary(2)|prostate(1)	18						CGGTGAAAGTGACTAGGTACA	0.493																																						ENST00000248073.2																			1	Substitution - coding silent(1)	p.V37V(1)	prostate(1)	breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(2)|ovary(2)|prostate(1)	18						c.(109-111)gtC>gtG		olfactory receptor, family 7, subfamily C, member 1							86	76	80					19																	14910838		2203	4300	6503	SO:0001819	synonymous_variant	26664				sensory perception of smell|spermatogenesis	integral to membrane|plasma membrane	olfactory receptor activity	g.chr19:14910838G>C	X89676	CCDS12317.1	19p13.1	2012-08-09						"GPCR / Class A : Olfactory receptors"	8373	protein-coding gene	gene with protein product				OR7C4			Standard	NM_198944		Approved	OR19-5	uc010xnz.2	O76099		ENST00000248073.2:c.111C>G	19.37:g.14910838G>C						OR7A5_ENST00000601611.1_Intron	p.V37V	NM_198944.1	NP_945182.1	O76099	OR7C1_HUMAN			1	185	-			37					Q15621|Q6IFP2|Q96R94	Silent	SNP	ENST00000248073.2	37	c.111C>G	CCDS12317.1																																																																																				0.493	OR7C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466519.1			6	144	0	0	0	1	0	6	144					C	14910838	G	C	14910838	2	2	67	1	0	0	0	0	0	0	0	1	11217	1277	45	5		5	OR7C1	19	14910838	Silent	SNP	G	TCGA-EJ-5519-01A-01D-1576-08	45044	14910838	44218145	106	3490											
OR7A5	26659	broad.mit.edu	37	chr19	14938095	14938095	+	Nonstop_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagcttagagccctgcaatCatgggcacttcttgaaaaat	13	10	9	9	0	2	2	1	1	1	1	2	3	2	2	1	1	3	3	1	1	5	3			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr19:14938095C>A	ENST00000322301.3	-	2	1046	c.959G>T	c.(958-960)tGa>tTa	p.*320L	OR7A5_ENST00000594432.1_Nonstop_Mutation_p.*320L|OR7A5_ENST00000601611.1_Intron			Q15622	OR7A5_HUMAN	olfactory receptor, family 7, subfamily A, member 5	0					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.*320L(1)		breast(1)|central_nervous_system(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	26						GCCCTGCAATCATGGGCACTT	0.383																																						ENST00000322301.3																			1	Nonstop extension(1)	p.*320L(1)	prostate(1)	breast(1)|central_nervous_system(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	26						c.(958-960)tGa>tTa		olfactory receptor, family 7, subfamily A, member 5							86	83	84					19																	14938095		2203	4300	6503	SO:0001578	stop_lost	26659				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr19:14938095C>A	X64976	CCDS12318.1	19p13.1	2012-08-09	2003-12-09			ENSG00000188269		"GPCR / Class A : Olfactory receptors"	8368	protein-coding gene	gene with protein product			"olfactory receptor, family 7, subfamily A, member 5 pseudogene"				Standard	XM_006722722		Approved	HTPCR2	uc002mzw.3	Q15622		ENST00000322301.3:c.959G>T	19.37:g.14938095C>A						OR7A5_ENST00000601611.1_Intron|OR7A5_ENST00000594432.1_Nonstop_Mutation_p.*320L	p.*320L			Q15622	OR7A5_HUMAN			2	1046	-			0					B2R682|Q6IFP1|Q96R96	Nonstop_Mutation	SNP	ENST00000322301.3	37	c.959G>T	CCDS12318.1	.	.	.	.	.	.	.	.	.	.	c	10.33	1.319760	0.23994	.	.	ENSG00000188269	ENST00000322301	.	.	.	2.9	-0.704	0.11256	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.9359	0.05815	0.0:0.4623:0.2423:0.2953	.	.	.	.	L	320	.	.	X	-	2	2	OR7A5	14799095	0.000000	0.05858	0.001000	0.08648	0.204000	0.24138	-0.248000	0.08854	0.106000	0.17784	0.121000	0.15741	TGA		0.383	OR7A5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466518.1	NM_017506		63	132	1	0	2.89935e-36	1	3.44129e-36	63	132					A	14938095	C	A	14938095	4	1	67	1	0	0	0	0	0	0	0	0	11216	837	29	5	4	5	OR7A5	19	14938095	Nonstop_Mutation	SNP	C	TCGA-EJ-5519-01A-01D-1576-08	27257	14938095	44190888	107	3491											
B3GNT3	10331	broad.mit.edu	37	chr19	17922668	17922668	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cggccgctgccctgcgccgtGctgcccatgtcttggacatc	3	9	12	17	4	1	0	0	0	1	0	2	1	1	1	4	2	4	2	4	2	0	1			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr19:17922668G>C	ENST00000318683.6	+	3	1003	c.856G>C	c.(856-858)Gct>Cct	p.A286P	B3GNT3_ENST00000595387.1_Missense_Mutation_p.A286P	NM_014256.3	NP_055071.2	Q9Y2A9	B3GN3_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 3	286					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,3-N-acetylglucosaminyltransferase activity (GO:0047223)|galactosyltransferase activity (GO:0008378)	p.A286P(1)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	21						CCTGCGCCGTGCTGCCCATGT	0.602																																						ENST00000318683.6																			1	Substitution - Missense(1)	p.A286P(1)	prostate(1)	breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	21						c.(856-858)Gct>Cct		UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 3							112	97	102					19																	17922668		2203	4300	6503	SO:0001583	missense	10331				protein glycosylation	Golgi membrane|integral to plasma membrane	galactosyltransferase activity	g.chr19:17922668G>C	AB015630	CCDS12364.1	19p13.1	2013-02-19				ENSG00000179913		"Beta 3-glycosyltransferases"	13528	protein-coding gene	gene with protein product	"putative type II membrane protein", "beta-1,3-N-acetylglucosaminyltransferase bGnT-3", "transmembrane protein 3"	605863		TMEM3		10072769, 11042166	Standard	NM_014256		Approved	B3GN-T3, beta3Gn-T3, HP10328, B3GNT-3	uc002nhl.1	Q9Y2A9		ENST00000318683.6:c.856G>C	19.37:g.17922668G>C	ENSP00000321874:p.Ala286Pro					B3GNT3_ENST00000595387.1_Missense_Mutation_p.A286P	p.A286P	NM_014256.3	NP_055071.2	Q9Y2A9	B3GN3_HUMAN			3	1003	+			286					B2RAS4|Q6NWU9|Q6NXU9|Q8WWR6|Q9C0J2	Missense_Mutation	SNP	ENST00000318683.6	37	c.856G>C	CCDS12364.1	.	.	.	.	.	.	.	.	.	.	G	11.71	1.720153	0.30503	.	.	ENSG00000179913	ENST00000318683	T	0.50277	0.75	5.23	4.19	0.49359	.	0.307908	0.34507	N	0.003908	T	0.73783	0.3631	M	0.93420	3.415	0.09310	N	1	D	0.76494	0.999	D	0.79784	0.993	T	0.68746	-0.5327	10	0.62326	D	0.03	.	11.0923	0.48123	0.0:0.0:0.6634:0.3366	.	286	Q9Y2A9	B3GN3_HUMAN	P	286	ENSP00000321874:A286P	ENSP00000321874:A286P	A	+	1	0	B3GNT3	17783668	0.000000	0.05858	0.142000	0.22268	0.002000	0.02628	1.109000	0.31135	1.221000	0.43506	-0.226000	0.12346	GCT		0.602	B3GNT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466877.1	NM_014256		32	114	0	0	0	1	0	32	114					C	17922668	G	C	17922668	3	2	67	1	0	0	0	0	1	0	0	0	1258	1319	46	5	862	5	B3GNT3	19	17922668	Missense_Mutation	SNP	G	TCGA-EJ-5519-01A-01D-1576-08	2984573	17922668	41206315	108	3492											
KRTDAP	388533	broad.mit.edu	37	chr19	35981320	35981320	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggagggagaggagcaccaCggcaggaaggaccgggatct	12	2	18	9	2	1	1	0	0	1	1	1	7	1	6	2	7	1	2	2	7	1	0			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr19:35981320C>T	ENST00000338897.3	-	1	113	c.25G>A	c.(25-27)Gtg>Atg	p.V9M	KRTDAP_ENST00000479340.1_Intron|KRTDAP_ENST00000484218.2_Missense_Mutation_p.V9M	NM_207392.2	NP_997275.1	P60985	KTDAP_HUMAN	keratinocyte differentiation-associated protein	9					cell differentiation (GO:0030154)	extracellular region (GO:0005576)		p.V9M(1)		breast(1)|lung(4)|prostate(1)	6	all_lung(56;1.89e-08)|Lung NSC(56;2.9e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			AGGAGCACCACGGCAGGAAGG	0.572																																						ENST00000338897.3																			1	Substitution - Missense(1)	p.V9M(1)	prostate(1)	breast(1)|lung(4)|prostate(1)	6						c.(25-27)Gtg>Atg		keratinocyte differentiation-associated protein							141	109	120					19																	35981320		2203	4300	6503	SO:0001583	missense	388533				cell differentiation	extracellular region		g.chr19:35981320C>T	AA297512	CCDS12462.1, CCDS59377.1	19q13.12	2013-06-20			ENSG00000188508	ENSG00000188508			16313	protein-coding gene	gene with protein product						11054531	Standard	NM_207392		Approved	KDAP, UNQ467	uc002nzh.3	P60985	OTTHUMG00000155449	ENST00000338897.3:c.25G>A	19.37:g.35981320C>T	ENSP00000339251:p.Val9Met					KRTDAP_ENST00000479340.1_Intron|KRTDAP_ENST00000484218.2_Missense_Mutation_p.V9M	p.V9M	NM_207392.2	NP_997275.1	P60985	KTDAP_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0724)		1	113	-	all_lung(56;1.89e-08)|Lung NSC(56;2.9e-08)|Esophageal squamous(110;0.162)		9					A1L4D7	Missense_Mutation	SNP	ENST00000338897.3	37	c.25G>A	CCDS12462.1	.	.	.	.	.	.	.	.	.	.	C	12.05	1.821052	0.32237	.	.	ENSG00000188508	ENST00000338897	.	.	.	4.92	2.68	0.31781	.	0.257578	0.27640	N	0.018461	T	0.27063	0.0663	.	.	.	0.09310	N	1	P	0.49696	0.927	B	0.40940	0.344	T	0.19943	-1.0290	8	0.87932	D	0	-32.7469	6.8712	0.24121	0.0:0.7248:0.1776:0.0976	.	9	P60985	KTDAP_HUMAN	M	9	.	ENSP00000339251:V9M	V	-	1	0	KRTDAP	40673160	0.001000	0.12720	0.286000	0.24833	0.092000	0.18411	0.991000	0.29654	1.265000	0.44215	0.462000	0.41574	GTG		0.572	KRTDAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340164.1			6	150	0	0	0	1	0	6	150					T	35981320	C	T	35981320	3	4	67	1	0	0	0	0	1	0	0	0	8580	536	19	1	298	1	KRTDAP	19	35981320	Missense_Mutation	SNP	C	TCGA-EJ-5519-01A-01D-1576-08	18058652	35981320	23147663	109	3493											
SIPA1L3	23094	broad.mit.edu	37	chr19	38600988	38600988	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcacgtcttcatcattgtccGagtccacaacccctgcactg	8	10	7	16	2	3	0	2	0	1	0	5	1	5	0	4	0	2	2	4	0	1	2	rs200090564		TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr19:38600988G>A	ENST00000222345.6	+	8	2764	c.2255G>A	c.(2254-2256)cGa>cAa	p.R752Q	CTC-450M9.1_ENST00000599092.1_RNA	NM_015073.1	NP_055888.1	O60292	SI1L3_HUMAN	signal-induced proliferation-associated 1 like 3	752	Rap-GAP. {ECO:0000255|PROSITE- ProRule:PRU00165}.				hematopoietic progenitor cell differentiation (GO:0002244)|regulation of small GTPase mediated signal transduction (GO:0051056)	extracellular space (GO:0005615)	GTPase activator activity (GO:0005096)	p.R752Q(1)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			ATCATTGTCCGAGTCCACAAC	0.597													G|||	1	0.000199681	0	0	5008	,	,		17052	0.001		0	False		,,,				2504	0					ENST00000222345.6																			1	Substitution - Missense(1)	p.R752Q(1)	prostate(1)	NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59						c.(2254-2256)cGa>cAa		signal-induced proliferation-associated 1 like 3							201	137	159					19																	38600988		2203	4300	6503	SO:0001583	missense	23094				regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity	g.chr19:38600988G>A	AB011117	CCDS33007.1	19q13.13	2008-02-05			ENSG00000105738	ENSG00000105738			23801	protein-coding gene	gene with protein product							Standard	XM_005258671		Approved	KIAA0545	uc002ohk.3	O60292	OTTHUMG00000073727	ENST00000222345.6:c.2255G>A	19.37:g.38600988G>A	ENSP00000222345:p.Arg752Gln						p.R752Q	NM_015073.1	NP_055888.1	O60292	SI1L3_HUMAN	Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)		8	2764	+			752			Rap-GAP.		Q2TV87	Missense_Mutation	SNP	ENST00000222345.6	37	c.2255G>A	CCDS33007.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	25.5	4.641879	0.87859	.	.	ENSG00000105738	ENST00000222345	D	0.93307	-3.2	4.95	4.95	0.65309	Rap/ran-GAP (2);	0.067897	0.64402	D	0.000014	D	0.87265	0.6134	N	0.16862	0.45	0.45995	D	0.998802	P	0.38455	0.632	B	0.33750	0.169	D	0.88983	0.3409	10	0.62326	D	0.03	-7.754	16.9653	0.86284	0.0:0.0:1.0:0.0	.	752	O60292	SI1L3_HUMAN	Q	752	ENSP00000222345:R752Q	ENSP00000222345:R752Q	R	+	2	0	SIPA1L3	43292828	0.925000	0.31364	0.942000	0.38095	0.633000	0.38033	4.894000	0.63206	2.309000	0.77851	0.555000	0.69702	CGA		0.597	SIPA1L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000156294.2	XM_032278		26	31	0	0	0	1	0	26	31					A	38600988	G	A	38600988	3	1	67	1	0	0	0	0	1	0	0	0	14331	1058	37	2	2277	2	SIPA1L3	19	38600988	Missense_Mutation	SNP	G	TCGA-EJ-5519-01A-01D-1576-08	2619668	38600988	20527995	110	3494											
KIF16B	55614	broad.mit.edu	37	chr20	16360552	16360552	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacgcggagaaaggtctcttCttcttgtctcttcttctgca	6	15	9	11	2	6	1	0	0	6	1	8	3	6	1	0	2	1	1	0	2	1	5			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr20:16360552C>A	ENST00000354981.2	-	19	2252	c.2095G>T	c.(2095-2097)Gaa>Taa	p.E699*	KIF16B_ENST00000408042.1_Nonsense_Mutation_p.E699*|KIF16B_ENST00000378003.2_5'UTR|KIF16B_ENST00000355755.3_Nonsense_Mutation_p.E699*	NM_001199865.1|NM_024704.4	NP_001186794.1|NP_078980.3	Q96L93	KI16B_HUMAN	kinesin family member 16B	699	Glu-rich.				ATP catabolic process (GO:0006200)|early endosome to late endosome transport (GO:0045022)|endoderm development (GO:0007492)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|formation of primary germ layer (GO:0001704)|Golgi to endosome transport (GO:0006895)|microtubule-based movement (GO:0007018)|receptor catabolic process (GO:0032801)|regulation of receptor recycling (GO:0001919)	early endosome (GO:0005769)|endosome (GO:0005768)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|plus-end-directed microtubule motor activity (GO:0008574)	p.E699*(2)		NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2)	74						AAGGTCTCTTCTTCTTGTCTC	0.448																																						ENST00000354981.2																			2	Substitution - Nonsense(2)	p.E699*(2)	prostate(2)	NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2)	74						c.(2095-2097)Gaa>Taa		kinesin family member 16B							151	133	139					20																	16360552		2203	4300	6503	SO:0001587	stop_gained	55614				cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|Golgi to endosome transport|microtubule-based movement|receptor catabolic process|regulation of receptor recycling	early endosome membrane|microtubule	ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity	g.chr20:16360552C>A	AK000142	CCDS13122.1, CCDS56178.1	20p11.23	2008-03-03	2008-03-03	2008-03-03	ENSG00000089177	ENSG00000089177		"Kinesins"	15869	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 23"	C20orf23		16084724, 16782399	Standard	NM_024704		Approved	FLJ20135, dJ971B4.1, SNX23	uc010gci.2	Q96L93	OTTHUMG00000031927	ENST00000354981.2:c.2095G>T	20.37:g.16360552C>A	ENSP00000347076:p.Glu699*					KIF16B_ENST00000408042.1_Nonsense_Mutation_p.E699*|KIF16B_ENST00000355755.3_Nonsense_Mutation_p.E699*|KIF16B_ENST00000378003.2_5'UTR	p.E699*	NM_001199865.1|NM_024704.4	NP_001186794.1|NP_078980.3	Q96L93	KI16B_HUMAN			19	2252	-			699			Glu-rich.		A6NKJ9|A7E2A8|B1AKG3|B1AKT7|C9JDN5|C9JI52|C9JSM8|C9JWJ7|Q2TBF5|Q5HYC0|Q5HYK1|Q5JWW3|Q5TFK5|Q86VL9|Q86YS5|Q8IYU0|Q9BQJ8|Q9BQM0|Q9BQM1|Q9BQM5|Q9H5U0|Q9HCI2|Q9NXN9	Nonsense_Mutation	SNP	ENST00000354981.2	37	c.2095G>T	CCDS13122.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	32|32	5.123746|5.123746	0.94429|0.94429	.|.	.|.	ENSG00000089177|ENSG00000089177	ENST00000354981;ENST00000355755;ENST00000408042|ENST00000450176	.|.	.|.	.|.	5.39|5.39	5.39|5.39	0.77823|0.77823	.|.	0.235048|.	0.42548|.	D|.	0.000699|.	.|T	.|0.75110	.|0.3805	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.73630	.|-0.3922	.|4	0.49607|.	T|.	0.09|.	.|.	19.152|19.152	0.93493|0.93493	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	X|N	699|133	.|.	ENSP00000347076:E699X|.	E|K	-|-	1|3	0|2	KIF16B|KIF16B	16308552|16308552	1.000000|1.000000	0.71417|0.71417	0.394000|0.394000	0.26270|0.26270	0.070000|0.070000	0.16714|0.16714	4.299000|4.299000	0.59073|0.59073	2.531000|2.531000	0.85337|0.85337	0.655000|0.655000	0.94253|0.94253	GAA|AAG		0.448	KIF16B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078104.2	NM_017683		76	184	1	0	1.77355e-41	1	2.12492e-41	76	184					A	16360552	C	A	16360552	4	1	67	1	0	0	0	0	0	1	0	0	8278	922	32	5	1890	5	KIF16B	20	16360552	Nonsense_Mutation	SNP	C	TCGA-EJ-5519-01A-01D-1576-08		16360552	46664968	111	3495											
NAA20	51126	broad.mit.edu	37	chr20	20013297	20013297	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agcctgatgaggacgcttatGgtaagctcccttccatggca	9	10	11	11	1	0	2	0	2	0	0	2	3	2	3	3	3	2	4	3	3	2	3			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr20:20013297G>A	ENST00000334982.4	+	5	732	c.451G>A	c.(451-453)Gat>Aat	p.D151N	NAA20_ENST00000484480.1_3'UTR|NAA20_ENST00000398602.2_Splice_Site_p.D139N|NAA20_ENST00000310450.4_Intron	NM_016100.4	NP_057184.1	P61599	NAA20_HUMAN	N(alpha)-acetyltransferase 20, NatB catalytic subunit	151	N-acetyltransferase. {ECO:0000255|PROSITE-ProRule:PRU00532}.					cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634)	peptide alpha-N-acetyltransferase activity (GO:0004596)	p.D151N(1)		endometrium(3)|lung(2)|prostate(1)	6						GGACGCTTATGGTAAGCTCCC	0.408																																						ENST00000398602.2																			1	Substitution - Missense(1)	p.D151N(1)	prostate(1)	endometrium(3)|lung(2)|prostate(1)	6						c.e5+1		N(alpha)-acetyltransferase 20, NatB catalytic subunit							80	74	76					20																	20013297		2203	4300	6503	SO:0001630	splice_region_variant	51126					cytoplasm|nucleus	peptide alpha-N-acetyltransferase activity	g.chr20:20013297G>A	AF085355	CCDS13141.1, CCDS13142.1, CCDS42854.1	20p11.23	2010-05-07	2010-01-14	2010-01-14	ENSG00000173418	ENSG00000173418	2.3.1.88	"N(alpha)-acetyltransferase subunits"	15908	protein-coding gene	gene with protein product	"N-acetyltransferase 3 homolog (S. cerevisiae)"	610833	"N-acetyltransferase 5, ARD1 subunit (arrest-defective 1, S. cerevisiae, homolog)", "N-acetyltransferase 5 (ARD1 homolog, S. cerevisiae)", "N-acetyltransferase 5", "N-acetyltransferase 5 (GCN5-related, putative)"	NAT5		12888564, 19660095	Standard	NM_016100		Approved	dJ1002M8.1, NAT3	uc002wrp.3	P61599	OTTHUMG00000031998	ENST00000334982.4:c.451+1G>A	20.37:g.20013297G>A						NAA20_ENST00000334982.4_Splice_Site_p.D151_splice|NAA20_ENST00000310450.4_Intron|NAA20_ENST00000484480.1_3'UTR	p.D139_splice	NM_181527.3	NP_852668.1	P61599	NAA20_HUMAN			5	1050	+			151			N-acetyltransferase.		A6NHA3|B2R4G4|Q5TFT7|Q9D7H8|Q9H0Y4|Q9NQH6|Q9Y6D2	Splice_Site	SNP	ENST00000334982.4	37	c.415_splice	CCDS13141.1	.	.	.	.	.	.	.	.	.	.	G	33	5.228446	0.95173	.	.	ENSG00000173418	ENST00000334982;ENST00000398602	T;T	0.67171	0.35;-0.25	5.62	5.62	0.85841	GCN5-related N-acetyltransferase (GNAT) domain (1);Acyl-CoA N-acyltransferase (2);	0.049939	0.85682	D	0.000000	D	0.82783	0.5112	M	0.90650	3.135	0.80722	D	1	B;P	0.34909	0.276;0.475	B;P	0.49752	0.172;0.621	T	0.82554	-0.0399	9	.	.	.	-26.8994	18.4866	0.90831	0.0:0.0:1.0:0.0	.	139;151	A8MZB2;P61599	.;NAA20_HUMAN	N	151;139	ENSP00000335636:D151N;ENSP00000381603:D139N	.	D	+	1	0	NAA20	19961297	1.000000	0.71417	0.361000	0.25849	0.946000	0.59487	7.869000	0.87170	2.664000	0.90586	0.650000	0.86243	GAT		0.408	NAA20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078217.2	NM_016100	Missense_Mutation	10	77	0	0	0	1	0	10	77					A	20013297	G	A	20013297	5	1	67	1	0	0	0	0	0	0	1	0	10120	1362	47	3	490	3	NAA20	20	20013297	Splice_Site	SNP	G	TCGA-EJ-5519-01A-01D-1576-08	3652745	20013297	43012223	112	3496											
STK4	6789	broad.mit.edu	37	chr20	43703680	43703680	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ttaagagttggacagtggagGaccttcagaagaggctcttg	11	10	14	6	0	2	3	1	0	1	3	2	6	2	6	1	4	0	2	1	4	2	4			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr20:43703680G>A	ENST00000372806.3	+	11	1422	c.1327G>A	c.(1327-1329)Gac>Aac	p.D443N	STK4_ENST00000499879.2_Missense_Mutation_p.D388N|STK4_ENST00000372801.1_3'UTR	NM_006282.2	NP_006273.1	Q13043	STK4_HUMAN	serine/threonine kinase 4	443	SARAH. {ECO:0000255|PROSITE- ProRule:PRU00310}.				apoptotic process (GO:0006915)|cell differentiation involved in embryonic placenta development (GO:0060706)|cell morphogenesis (GO:0000902)|central nervous system development (GO:0007417)|endocardium development (GO:0003157)|hepatocyte apoptotic process (GO:0097284)|hippo signaling (GO:0035329)|intracellular signal transduction (GO:0035556)|keratinocyte differentiation (GO:0030216)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of organ growth (GO:0046621)|neural tube formation (GO:0001841)|patterning of blood vessels (GO:0001569)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic process (GO:0043065)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|primitive hemopoiesis (GO:0060215)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|magnesium ion binding (GO:0000287)|protein dimerization activity (GO:0046983)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activator activity (GO:0043539)|protein serine/threonine kinase activity (GO:0004674)|transcription factor binding (GO:0008134)	p.D443N(1)		NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(2)|lung(5)|ovary(1)|prostate(1)|skin(2)	20		Myeloproliferative disorder(115;0.0122)				GACAGTGGAGGACCTTCAGAA	0.542																																					GBM(187;1039 2137 11798 21916 33213)	ENST00000372806.3																			1	Substitution - Missense(1)	p.D443N(1)	prostate(1)	NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(2)|lung(5)|ovary(1)|prostate(1)|skin(2)	20						c.(1327-1329)Gac>Aac		serine/threonine kinase 4							63	59	61					20																	43703680		2203	4300	6503	SO:0001583	missense	6789				apoptosis|cell morphogenesis|hippo signaling cascade|intracellular protein kinase cascade|negative regulation of canonical Wnt receptor signaling pathway|peptidyl-serine phosphorylation|positive regulation of apoptosis|protein autophosphorylation	cytoplasm|nucleus	ATP binding|magnesium ion binding|protein homodimerization activity|protein serine/threonine kinase activator activity|protein serine/threonine kinase activity|transcription factor binding	g.chr20:43703680G>A		CCDS13341.1	20q11.2-q13.2	2014-09-17			ENSG00000101109	ENSG00000101109			11408	protein-coding gene	gene with protein product	"mammalian sterile 20-like 1", "yeast Ste20-like", "kinase responsive to stress 2"	604965				8816758, 9545236, 11517310	Standard	NM_006282		Approved	MST1, KRS2, YSK3	uc002xnb.3	Q13043	OTTHUMG00000033059	ENST00000372806.3:c.1327G>A	20.37:g.43703680G>A	ENSP00000361892:p.Asp443Asn					STK4_ENST00000372801.1_3'UTR|STK4_ENST00000499879.2_Missense_Mutation_p.D388N	p.D443N	NM_006282.2	NP_006273.1	Q13043	STK4_HUMAN			11	1422	+		Myeloproliferative disorder(115;0.0122)	443			SARAH.		B2RCR8|Q15802|Q4G156|Q5H982|Q6PD60|Q9BR32|Q9NTZ4	Missense_Mutation	SNP	ENST00000372806.3	37	c.1327G>A	CCDS13341.1	.	.	.	.	.	.	.	.	.	.	G	23.4	4.413907	0.83449	.	.	ENSG00000101109	ENST00000372806;ENST00000499879	T;T	0.74632	-0.86;-0.86	5.81	4.81	0.61882	SARAH domain (1);SARAH (1);	0.161766	0.53938	D	0.000053	T	0.69124	0.3076	L	0.34521	1.04	0.80722	D	1	B;B	0.28512	0.214;0.086	B;B	0.34873	0.171;0.191	T	0.70894	-0.4748	10	0.87932	D	0	.	16.3763	0.83401	0.0:0.1316:0.8684:0.0	.	388;443	F5H5B4;Q13043	.;STK4_HUMAN	N	443;388	ENSP00000361892:D443N;ENSP00000443514:D388N	ENSP00000361892:D443N	D	+	1	0	STK4	43137094	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.494000	0.81503	2.746000	0.94184	0.655000	0.94253	GAC		0.542	STK4-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080401.4	NM_006282		5	68	0	0	0	1	0	5	68					A	43703680	G	A	43703680	3	1	67	1	0	0	0	0	1	0	0	0	15305	1174	41	3	1369	3	STK4	20	43703680	Missense_Mutation	SNP	G	TCGA-EJ-5519-01A-01D-1576-08	23690383	43703680	19321840	113	3497											
ADNP	23394	broad.mit.edu	37	chr20	49509965	49509965	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gagggcctgtggcagctgcaGcaggtttggaactggactga	8	8	17	8	0	0	1	0	1	0	0	0	4	0	3	1	5	4	5	1	5	1	1			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr20:49509965G>C	ENST00000396029.3	-	5	1853	c.1286C>G	c.(1285-1287)gCt>gGt	p.A429G	ADNP_ENST00000371602.4_Missense_Mutation_p.A429G|ADNP_ENST00000396032.3_Missense_Mutation_p.A429G|ADNP_ENST00000349014.3_Missense_Mutation_p.A429G	NM_001282531.1|NM_015339.2	NP_001269460.1|NP_056154.1	Q9H2P0	ADNP_HUMAN	activity-dependent neuroprotector homeobox	429					negative regulation of neuron apoptotic process (GO:0043524)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	extracellular space (GO:0005615)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.A429G(1)		NS(1)|breast(4)|endometrium(7)|kidney(1)|large_intestine(13)|lung(7)|ovary(2)|prostate(2)|skin(2)	39						GGCAGCTGCAGCAGGTTTGGA	0.473																																						ENST00000396029.3																			1	Substitution - Missense(1)	p.A429G(1)	prostate(1)	NS(1)|breast(4)|endometrium(7)|kidney(1)|large_intestine(13)|lung(7)|ovary(2)|prostate(2)|skin(2)	39						c.(1285-1287)gCt>gGt		activity-dependent neuroprotector homeobox							88	93	92					20																	49509965		2203	4300	6503	SO:0001583	missense	23394					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr20:49509965G>C	AF250860	CCDS13433.1	20q13.13	2011-06-20	2007-07-17		ENSG00000101126	ENSG00000101126		"Homeoboxes / ZF class"	15766	protein-coding gene	gene with protein product	"ADNP homeobox 1"	611386	"activity-dependent neuroprotector"			9872452, 11013255	Standard	NM_015339		Approved	KIAA0784, ADNP1	uc002xvu.1	Q9H2P0	OTTHUMG00000032737	ENST00000396029.3:c.1286C>G	20.37:g.49509965G>C	ENSP00000379346:p.Ala429Gly					ADNP_ENST00000396032.3_Missense_Mutation_p.A429G|ADNP_ENST00000349014.3_Missense_Mutation_p.A429G|ADNP_ENST00000371602.4_Missense_Mutation_p.A429G	p.A429G	NM_015339.2	NP_056154.1	Q9H2P0	ADNP_HUMAN			5	1853	-			429					E1P5Y2|O94881|Q5BKU2|Q9UG34	Missense_Mutation	SNP	ENST00000396029.3	37	c.1286C>G	CCDS13433.1	.	.	.	.	.	.	.	.	.	.	G	2.985	-0.209465	0.06140	.	.	ENSG00000101126	ENST00000371602;ENST00000349014;ENST00000396029;ENST00000396032	.	.	.	5.91	4.97	0.65823	.	0.494363	0.25564	N	0.029801	T	0.23094	0.0558	N	0.08118	0	0.09310	N	1	B	0.13145	0.007	B	0.10450	0.005	T	0.13845	-1.0494	9	0.23302	T	0.38	-33.4433	11.9482	0.52940	0.1386:0.0:0.8614:0.0	.	429	Q9H2P0	ADNP_HUMAN	G	429	.	ENSP00000342905:A429G	A	-	2	0	ADNP	48943372	0.962000	0.33011	0.045000	0.18777	0.712000	0.41017	3.859000	0.55987	1.523000	0.49018	0.650000	0.86243	GCT		0.473	ADNP-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079705.2	NM_181442		64	154	0	0	0	1	0	64	154					C	49509965	G	C	49509965	3	2	67	1	0	0	0	0	1	0	0	0	323	971	34	5	2026	5	ADNP	20	49509965	Missense_Mutation	SNP	G	TCGA-EJ-5519-01A-01D-1576-08	5806285	49509965	13515555	114	3498											
ZNF512B	57473	broad.mit.edu	37	chr20	62598086	62598086	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctgggtcttagaggtgaatgCggcctcgcagaaggggcagg	8	7	18	8	2	1	3	0	1	1	2	2	3	1	3	1	6	1	2	1	6	3	1			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr20:62598086C>T	ENST00000450537.1	-	5	502	c.442G>A	c.(442-444)Gca>Aca	p.A148T	ZNF512B_ENST00000369888.1_Missense_Mutation_p.A148T|ZNF512B_ENST00000217130.3_Missense_Mutation_p.A148T			Q96KM6	Z512B_HUMAN	zinc finger protein 512B	148					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.A148T(2)		NS(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(4)|skin(1)	33	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)					GAGGTGAATGCGGCCTCGCAG	0.647																																						ENST00000450537.1																			2	Substitution - Missense(2)	p.A148T(2)	prostate(2)	NS(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(4)|skin(1)	33						c.(442-444)Gca>Aca		zinc finger protein 512B							27	30	29					20																	62598086		2203	4297	6500	SO:0001583	missense	57473				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr20:62598086C>T	AB033022	CCDS13548.1	20q13.33	2011-02-09			ENSG00000196700	ENSG00000196700			29212	protein-coding gene	gene with protein product						10574462	Standard	NM_020713		Approved	GM632, MGC149845, MGC149846	uc002yhl.2	Q96KM6	OTTHUMG00000033008	ENST00000450537.1:c.442G>A	20.37:g.62598086C>T	ENSP00000393795:p.Ala148Thr					ZNF512B_ENST00000369888.1_Missense_Mutation_p.A148T|ZNF512B_ENST00000217130.3_Missense_Mutation_p.A148T	p.A148T			Q96KM6	Z512B_HUMAN			5	502	-	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)		148					Q08AK9|Q9ULM4	Missense_Mutation	SNP	ENST00000450537.1	37	c.442G>A	CCDS13548.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.652564	0.88056	.	.	ENSG00000196700	ENST00000369888;ENST00000450537;ENST00000217130	T;T;T	0.74632	-0.86;-0.86;-0.86	5.42	5.42	0.78866	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);	0.132116	0.50627	D	0.000104	T	0.63534	0.2519	L	0.27053	0.805	0.34056	D	0.656705	D	0.56968	0.978	B	0.44133	0.442	T	0.73464	-0.3974	10	0.40728	T	0.16	-22.78	11.8173	0.52218	0.0:0.9194:0.0:0.0806	.	148	Q96KM6	Z512B_HUMAN	T	148	ENSP00000358904:A148T;ENSP00000393795:A148T;ENSP00000217130:A148T	ENSP00000217130:A148T	A	-	1	0	ZNF512B	62068530	0.990000	0.36364	0.523000	0.27875	0.979000	0.70002	3.351000	0.52232	2.534000	0.85438	0.585000	0.79938	GCA		0.647	ZNF512B-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080246.1	NM_020713		3	60	0	0	0	1	0	3	60					T	62598086	C	T	62598086	3	4	67	1	0	0	0	0	1	0	0	0	17954	768	27	1	2288	1	ZNF512B	20	62598086	Missense_Mutation	SNP	C	TCGA-EJ-5519-01A-01D-1576-08	13088121	62598086	427434	115	3499											
KRTAP10-1	386677	broad.mit.edu	37	chr21	45959620	45959620	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acaggcacacagcaggactgCtggctggaggaagaggcaca	13	3	15	10	0	0	1	0	0	0	1	0	4	0	4	0	6	2	5	0	6	1	0			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr21:45959620C>T	ENST00000400375.1	-	1	458	c.414G>A	c.(412-414)caG>caA	p.Q138Q	TSPEAR_ENST00000397916.1_Intron|TSPEAR_ENST00000323084.4_Intron	NM_198691.2	NP_941964.2	P60331	KR101_HUMAN	keratin associated protein 10-1	138	24 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)		p.Q138Q(1)		breast(1)|central_nervous_system(1)|endometrium(1)|lung(3)|prostate(4)|skin(1)	11						AGCAGGACTGCTGGCTGGAGG	0.582																																						ENST00000400375.1																			1	Substitution - coding silent(1)	p.Q138Q(1)	prostate(1)	breast(1)|central_nervous_system(1)|endometrium(1)|lung(3)|prostate(4)|skin(1)	11						c.(412-414)caG>caA		keratin associated protein 10-1							115	120	118					21																	45959620		2203	4300	6503	SO:0001819	synonymous_variant	386677					keratin filament		g.chr21:45959620C>T	AJ566380	CCDS42954.1	21q22.3	2007-10-05			ENSG00000215455	ENSG00000215455		"Keratin associated proteins"	22966	protein-coding gene	gene with protein product				KRTAP18-1			Standard	NM_198691		Approved	KAP10.1, KAP18.1	uc002zfh.1	P60331	OTTHUMG00000057627	ENST00000400375.1:c.414G>A	21.37:g.45959620C>T						TSPEAR_ENST00000323084.4_Intron|TSPEAR_ENST00000397916.1_Intron	p.Q138Q	NM_198691.2	NP_941964.2	P60331	KR101_HUMAN			1	458	-			138			24 X 5 AA repeats of C-C-X(3).		Q0VAR0|Q0VAR1	Silent	SNP	ENST00000400375.1	37	c.414G>A	CCDS42954.1																																																																																				0.582	KRTAP10-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128030.1			33	26	0	0	0	1	0	33	26					T	45959620	C	T	45959620	2	4	67	1	0	0	0	0	0	0	0	1	8505	796	28	3		3	KRTAP10-1	21	45959620	Silent	SNP	C	TCGA-EJ-5519-01A-01D-1576-08		45959620	2170275	116	3500											
SF3A1	10291	broad.mit.edu	37	chr22	30736751	30736751	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcagaggtggaggcatgggTgtctctgggggtgggggcac	5	7	23	6	0	1	1	0	0	1	1	2	2	1	2	0	9	0	3	0	9	0	0			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr22:30736751T>C	ENST00000215793.8	-	8	1276	c.1122A>G	c.(1120-1122)acA>acG	p.T374T	SF3A1_ENST00000439242.1_Silent_p.T309T	NM_005877.4	NP_005868.1	Q15459	SF3A1_HUMAN	splicing factor 3a, subunit 1, 120kDa	374					gene expression (GO:0010467)|mRNA 3'-splice site recognition (GO:0000389)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U2-type spliceosomal complex (GO:0005684)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.T374T(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|urinary_tract(1)	29						GAGGCATGGGTGTCTCTGGGG	0.582																																						ENST00000439242.1																			1	Substitution - coding silent(1)	p.T374T(1)	prostate(1)	endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|urinary_tract(1)	29						c.(925-927)acA>acG		splicing factor 3a, subunit 1, 120kDa							87	86	86					22																	30736751		2203	4300	6503	SO:0001819	synonymous_variant	10291				nuclear mRNA 3'-splice site recognition	catalytic step 2 spliceosome|nucleoplasm|U2-type spliceosomal complex	protein binding|RNA binding	g.chr22:30736751T>C	X85237	CCDS13875.1	22q12.2	2014-09-17	2002-08-29		ENSG00000099995	ENSG00000099995			10765	protein-coding gene	gene with protein product		605595	"splicing factor 3a, subunit 1, 120kD"			7489498	Standard	NM_005877		Approved	SF3a120, SAP114, PRPF21, Prp21	uc003ahl.3	Q15459	OTTHUMG00000151005	ENST00000215793.8:c.1122A>G	22.37:g.30736751T>C						SF3A1_ENST00000215793.7_Silent_p.T374T	p.T309T	NM_001005409.1	NP_001005409.1	Q15459	SF3A1_HUMAN			8	1058	-			374					E9PAW1	Silent	SNP	ENST00000215793.8	37	c.927A>G	CCDS13875.1																																																																																				0.582	SF3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320916.2	NM_005877		59	112	0	0	0	1	0	59	112					C	30736751	T	C	30736751	2	2	67	1	0	0	0	0	0	0	0	1	14146	1683	59	4		4	SF3A1	22	30736751	Silent	SNP	T	TCGA-EJ-5519-01A-01D-1576-08		30736751	20567815	117	3501											
ISX	91464	broad.mit.edu	37	chr22	35481682	35481682	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cagcatctgtgctacttcaaCatagagattggacatgctct	11	12	8	10	0	3	1	1	0	2	1	3	3	3	2	0	1	5	3	0	1	3	4			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr22:35481682C>G	ENST00000308700.6	+	4	1686	c.734C>G	c.(733-735)aCa>aGa	p.T245R	ISX_ENST00000404699.2_Missense_Mutation_p.T245R	NM_001008494.1	NP_001008494.1	Q2M1V0	ISX_HUMAN	intestine-specific homeobox	245					regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of vitamin A metabolic process (GO:1901738)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)	p.T245R(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(12)|ovary(3)|prostate(1)|skin(4)	26						GCTACTTCAACATAGAGATTG	0.532																																						ENST00000308700.6																			1	Substitution - Missense(1)	p.T245R(1)	prostate(1)	breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(12)|ovary(3)|prostate(1)|skin(4)	26						c.(733-735)aCa>aGa		intestine-specific homeobox							142	100	114					22																	35481682		2203	4300	6503	SO:0001583	missense	91464					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr22:35481682C>G	AK025181	CCDS33640.1	22q12.3	2011-06-20			ENSG00000175329	ENSG00000175329		"Homeoboxes / PRD class"	28084	protein-coding gene	gene with protein product		612019					Standard	NM_001008494		Approved	RAXLX	uc003anj.3	Q2M1V0	OTTHUMG00000150962	ENST00000308700.6:c.734C>G	22.37:g.35481682C>G	ENSP00000311492:p.Thr245Arg					ISX_ENST00000404699.2_Missense_Mutation_p.T245R	p.T245R	NM_001008494.1	NP_001008494.1	Q2M1V0	ISX_HUMAN			4	1686	+			245					Q68DJ5	Missense_Mutation	SNP	ENST00000308700.6	37	c.734C>G	CCDS33640.1	.	.	.	.	.	.	.	.	.	.	C	16.43	3.121045	0.56613	.	.	ENSG00000175329	ENST00000308700;ENST00000404699	D;D	0.90900	-2.75;-2.75	5.14	4.12	0.48240	.	0.000000	0.47455	D	0.000224	D	0.92886	0.7737	M	0.64997	1.995	0.09310	N	0.999999	D	0.71674	0.998	D	0.64687	0.928	D	0.86203	0.1620	10	0.87932	D	0	.	9.679	0.40059	0.0:0.9035:0.0:0.0965	.	245	Q2M1V0	ISX_HUMAN	R	245	ENSP00000311492:T245R;ENSP00000386037:T245R	ENSP00000311492:T245R	T	+	2	0	ISX	33811682	0.340000	0.24792	0.025000	0.17156	0.113000	0.19764	1.905000	0.39878	1.157000	0.42530	0.655000	0.94253	ACA		0.532	ISX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320662.1	NM_001008494		3	121	0	0	0	1	0	3	121					G	35481682	C	G	35481682	3	3	67	1	0	0	0	0	1	0	0	0	7865	478	17	5	748	5	ISX	22	35481682	Missense_Mutation	SNP	C	TCGA-EJ-5519-01A-01D-1576-08	4744931	35481682	15822884	118	3502											
NUDT11	55190	broad.mit.edu	37	chrX	51239296	51239309	+	Start_Codon_Del	DEL	TCCTCGAGGCAGCC	TCCTCGAGGCAGCC	-																															ctggttgggtttgcacttcaTcctcgaggcagcctcctcga																								rs78182391		TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chrX:51239296_51239309delTCCTCGAGGCAGCC	ENST00000375992.3	-	0	139_152					NM_018159.3	NP_060629.2	Q96G61	NUD11_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 11						inositol phosphate metabolic process (GO:0043647)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|intracellular (GO:0005622)	diphosphoinositol-polyphosphate diphosphatase activity (GO:0008486)|inositol diphosphate tetrakisphosphate diphosphatase activity (GO:0052840)|inositol-1,5-bisdiphosphate-2,3,4,6-tetrakisphosphate 1-diphosphatase activity (GO:0052846)|inositol-1,5-bisdiphosphate-2,3,4,6-tetrakisphosphate 5-diphosphatase activity (GO:0052847)|inositol-1-diphosphate-2,3,4,5,6-pentakisphosphate diphosphatase activity (GO:0052843)|inositol-3,5-bisdiphosphate-2,3,4,6-tetrakisphosphate 5-diphosphatase activity (GO:0052848)|inositol-3-diphosphate-1,2,4,5,6-pentakisphosphate diphosphatase activity (GO:0052844)|inositol-5-diphosphate-1,2,3,4,6-pentakisphosphate diphosphatase activity (GO:0052845)|metal ion binding (GO:0046872)	p.?(5)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|upper_aerodigestive_tract(2)	9	Ovarian(276;0.236)					TTGCACTTCATCCTCGAGGCAGCCTCCTCGAGGC	0.692										HNSCC(48;0.14)				2406	0.637351	0.497	0.4928	3775	,	,		5662	0.4464		0.4553	False		,,,				2504	0.5102				GBM(38;198 791 1498 11752 13599)	ENST00000375992.3																			5	Unknown(5)	p.?(5)	upper_aerodigestive_tract(2)|prostate(1)|breast(1)|central_nervous_system(1)	breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|upper_aerodigestive_tract(2)	9								nudix (nucleoside diphosphate linked moiety X)-type motif 11				1710,202		758,11,183,87,17						3	1		dbSNP_131	12	3133,173		1220,1,692,66,40	no	frameshift	NUDT11	NM_018159.3		1978,12,875,153,57	A1A1,A1R,A1,RR,R		5.2329,10.5649,7.1867				4843,375				SO:0001582	initiator_codon_variant	0					cytoplasm	diphosphoinositol-polyphosphate diphosphatase activity|metal ion binding	g.chrX:51239296_51239309delTCCTCGAGGCAGCC	AK001490	CCDS43952.1	Xp11.22-p11.1	2014-05-20			ENSG00000196368	ENSG00000196368		"Nudix motif containing"	18011	protein-coding gene	gene with protein product						12105228	Standard	NM_018159		Approved	DIPP3b, FLJ10628, hDIPP3beta	uc010njt.3	Q96G61	OTTHUMG00000021531		X.37:g.51239296_51239309delTCCTCGAGGCAGCC		HNSCC(48;0.14)						NM_018159.3	NP_060629.2	Q96G61	NUD11_HUMAN			0	139_152	-	Ovarian(276;0.236)							Q9NVN0	Translation_Start_Site	DEL	ENST00000375992.3	37		CCDS43952.1																																																																																				0.692	NUDT11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056579.1			2	4						2	4	---	---	---	---	-	51239309	TCCTCGAGGCAGCC	-	51239296	7	5	67	1	0	1	0	1	0	0	0	0	10727	1435	50	0	501	0	NUDT11	23	51239296	Start_Codon_Del	DEL	TCCTCGAGGCAGCC	TCGA-EJ-5519-01A-01D-1576-08		51239296	104031264	119	3503											
GUCY2F	2986	broad.mit.edu	37	chrX	108718895	108718895	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtattcaaaagaataactcaGgtcaaaagatgggtcccggt	15	9	10	7	1	3	2	3	0	0	2	4	2	4	2	1	3	1	1	1	3	7	3			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chrX:108718895G>C	ENST00000218006.2	-	2	562	c.271C>G	c.(271-273)Ctg>Gtg	p.L91V		NM_001522.2	NP_001513.2	P51841	GUC2F_HUMAN	guanylate cyclase 2F, retinal	91					intracellular signal transduction (GO:0035556)|phototransduction, visible light (GO:0007603)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|nuclear outer membrane (GO:0005640)|photoreceptor disc membrane (GO:0097381)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|protein kinase activity (GO:0004672)|receptor activity (GO:0004872)	p.L91V(2)		breast(3)|central_nervous_system(2)|endometrium(5)|kidney(6)|large_intestine(14)|lung(33)|prostate(3)|skin(1)	67						GAATAACTCAGGTCAAAAGAT	0.502											OREG0019905	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000218006.2																			2	Substitution - Missense(2)	p.L91V(2)	prostate(2)	breast(3)|central_nervous_system(2)|endometrium(5)|kidney(6)|large_intestine(14)|lung(33)|prostate(3)|skin(1)	67						c.(271-273)Ctg>Gtg		guanylate cyclase 2F, retinal							99	99	99					X																	108718895		2203	4300	6503	SO:0001583	missense	2986				intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception	integral to plasma membrane|nuclear outer membrane	ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity	g.chrX:108718895G>C	L37378	CCDS14545.1	Xq22	2008-08-01			ENSG00000101890	ENSG00000101890			4691	protein-coding gene	gene with protein product	"guanylate cyclase 2D-like, membrane (retina-specific)"	300041				8838319, 7777544	Standard	NM_001522		Approved	GUC2DL, GC-F, RetGC-2, ROS-GC2, CYGF	uc004eod.4	P51841	OTTHUMG00000022184	ENST00000218006.2:c.271C>G	X.37:g.108718895G>C	ENSP00000218006:p.Leu91Val		OREG0019905	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1414		p.L91V	NM_001522.2	NP_001513.2	P51841	GUC2F_HUMAN			2	562	-			91					Q9UJF1	Missense_Mutation	SNP	ENST00000218006.2	37	c.271C>G	CCDS14545.1	.	.	.	.	.	.	.	.	.	.	G	0.131	-1.113582	0.01799	.	.	ENSG00000101890	ENST00000218006	D	0.82984	-1.67	4.67	1.84	0.25277	Extracellular ligand-binding receptor (1);	0.930610	0.09111	N	0.847099	T	0.76615	0.4012	L	0.55990	1.75	0.09310	N	1	B	0.11235	0.004	B	0.19946	0.027	T	0.59225	-0.7494	10	0.26408	T	0.33	.	4.9665	0.14093	0.1948:0.0:0.6329:0.1724	.	91	P51841	GUC2F_HUMAN	V	91	ENSP00000218006:L91V	ENSP00000218006:L91V	L	-	1	2	GUCY2F	108605551	0.264000	0.24093	0.008000	0.14137	0.178000	0.23041	2.606000	0.46291	0.134000	0.18681	-0.215000	0.12644	CTG		0.502	GUCY2F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057884.1	NM_001522		96	44	0	0	0	1	0	96	44					C	108718895	G	C	108718895	3	2	67	1	0	0	0	0	1	0	0	0	6898	991	35	5	3127	5	GUCY2F	23	108718895	Missense_Mutation	SNP	G	TCGA-EJ-5519-01A-01D-1576-08	57479599	108718895	46551665	120	3504											
HIPK1	204851	broad.mit.edu	37	chr1	114483187	114483187	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaagccaactcctctcaccAggtagcaaatttcaacatcc	13	8	5	15	0	2	0	2	0	1	0	5	0	4	0	4	1	4	3	4	1	5	2			TCGA-EJ-5521-01A-01D-1576-08	TCGA-EJ-5521-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71f9ca33-4f59-47fa-98b2-6074451c14a4	6d784e6d-e22b-41f0-9ea2-154445f6fe64	g.chr1:114483187A>G	ENST00000369558.1	+	2	414	c.182A>G	c.(181-183)cAg>cGg	p.Q61R	HIPK1_ENST00000369554.2_Missense_Mutation_p.Q61R|HIPK1_ENST00000426820.2_Missense_Mutation_p.Q61R|HIPK1_ENST00000369561.4_Missense_Mutation_p.Q61R|HIPK1_ENST00000369555.2_Missense_Mutation_p.Q61R|HIPK1_ENST00000369559.4_Missense_Mutation_p.Q61R			Q86Z02	HIPK1_HUMAN	homeodomain interacting protein kinase 1	61					anterior/posterior pattern specification (GO:0009952)|definitive hemopoiesis (GO:0060216)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|endothelial cell apoptotic process (GO:0072577)|extrinsic apoptotic signaling pathway (GO:0097191)|eye development (GO:0001654)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|iris morphogenesis (GO:0061072)|lens induction in camera-type eye (GO:0060235)|neuron differentiation (GO:0030182)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell proliferation (GO:0008284)|regulation of transcription, DNA-templated (GO:0006355)|regulation of tumor necrosis factor-mediated signaling pathway (GO:0010803)|retina layer formation (GO:0010842)|smoothened signaling pathway (GO:0007224)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|PML body (GO:0016605)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.Q61R(3)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|prostate(2)	39	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TCCTCTCACCAGGTAGCAAAT	0.537																																						ENST00000369558.1																			3	Substitution - Missense(3)	p.Q61R(3)	prostate(3)	breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|prostate(2)	39						c.(181-183)cAg>cGg		homeodomain interacting protein kinase 1							205	207	206					1																	114483187		2203	4300	6503	SO:0001583	missense	204851				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr1:114483187A>G	AB089957	CCDS867.1, CCDS868.1, CCDS869.1, CCDS41370.1	1p13.1	2008-02-05			ENSG00000163349	ENSG00000163349			19006	protein-coding gene	gene with protein product		608003					Standard	NM_198268		Approved	KIAA0630, Myak, MGC26642, Nbak2, MGC33446, MGC33548	uc001eem.3	Q86Z02	OTTHUMG00000011983	ENST00000369558.1:c.182A>G	1.37:g.114483187A>G	ENSP00000358571:p.Gln61Arg					HIPK1_ENST00000426820.2_Missense_Mutation_p.Q61R|HIPK1_ENST00000369559.4_Missense_Mutation_p.Q61R|HIPK1_ENST00000369554.2_Missense_Mutation_p.Q61R|HIPK1_ENST00000369555.2_Missense_Mutation_p.Q61R|HIPK1_ENST00000369561.4_Missense_Mutation_p.Q61R	p.Q61R			Q86Z02	HIPK1_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	2	414	+	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)	61					A6NJ34|O75125|Q5SQL2|Q5SQL4|Q5SQL5|Q8IYD7|Q8NDN5|Q8NEB6|Q8TBZ1	Missense_Mutation	SNP	ENST00000369558.1	37	c.182A>G	CCDS867.1	.	.	.	.	.	.	.	.	.	.	A	15.42	2.829284	0.50845	.	.	ENSG00000163349	ENST00000426820;ENST00000369559;ENST00000443627;ENST00000369554;ENST00000369555;ENST00000369558;ENST00000369561;ENST00000514621;ENST00000503968	T;T;T;T;T;T;T;T;T	0.50813	0.73;0.73;0.77;0.74;0.74;0.77;0.77;0.81;0.8	5.22	5.22	0.72569	.	0.000000	0.64402	D	0.000013	T	0.41305	0.1153	N	0.22421	0.69	0.80722	D	1	P;P	0.48294	0.851;0.908	P;D	0.64144	0.775;0.922	T	0.32903	-0.9889	10	0.27785	T	0.31	.	15.1417	0.72615	1.0:0.0:0.0:0.0	.	61;61	Q86Z02;Q86Z02-2	HIPK1_HUMAN;.	R	132;61;61;61;61;61;61;61;61	ENSP00000407442:Q132R;ENSP00000358572:Q61R;ENSP00000409673:Q61R;ENSP00000358567:Q61R;ENSP00000358568:Q61R;ENSP00000358571:Q61R;ENSP00000358574:Q61R;ENSP00000422322:Q61R;ENSP00000426695:Q61R	ENSP00000358567:Q61R	Q	+	2	0	HIPK1	114284710	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.783000	0.68982	1.969000	0.57287	0.528000	0.53228	CAG		0.537	HIPK1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000033127.1	NM_198268		15	227	0	0	0	1	0	15	227					G	114483187	A	G	114483187	3	3	68	1	0	0	0	0	1	0	0	0	7116	188	7	4	184	4	HIPK1	1	114483187	Missense_Mutation	SNP	A	TCGA-EJ-5521-01A-01D-1576-08		114483187	134767434	1	3505											
KIRREL	55243	broad.mit.edu	37	chr1	158064571	158064571	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcccgtctctcccactccagCggctatgcccagctcaacac	7	8	6	20	2	2	0	1	0	1	0	6	0	5	0	4	1	4	2	4	1	2	1	rs369421466		TCGA-EJ-5521-01A-01D-1576-08	TCGA-EJ-5521-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71f9ca33-4f59-47fa-98b2-6074451c14a4	6d784e6d-e22b-41f0-9ea2-154445f6fe64	g.chr1:158064571C>T	ENST00000359209.6	+	15	2002	c.1935C>T	c.(1933-1935)agC>agT	p.S645S	KIRREL_ENST00000368173.3_Silent_p.S661S|KIRREL_ENST00000416935.2_Silent_p.S545S|KIRREL_ENST00000392272.2_Silent_p.S542S|KIRREL_ENST00000360089.4_Silent_p.S481S|KIRREL_ENST00000368172.1_Silent_p.S459S			Q96J84	KIRR1_HUMAN	kin of IRRE like (Drosophila)	645					excretion (GO:0007588)|negative regulation of protein phosphorylation (GO:0001933)|positive regulation of actin filament polymerization (GO:0030838)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|dendritic shaft (GO:0043198)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	myosin binding (GO:0017022)	p.S661S(1)|p.S481S(1)		NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(5)|skin(3)|stomach(1)	38	all_hematologic(112;0.0378)					CCCACTCCAGCGGCTATGCCC	0.672																																						ENST00000368172.1																			2	Substitution - coding silent(2)	p.S661S(1)|p.S481S(1)	prostate(2)	NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(5)|skin(3)|stomach(1)	38						c.(1375-1377)agC>agT		kin of IRRE like (Drosophila)		C		0,4406		0,0,2203	43	47	45		1935	-1	1	1		45	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	KIRREL	NM_018240.5		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		645/758	158064571	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	55243					integral to membrane		g.chr1:158064571C>T	AK001707	CCDS1172.2, CCDS72952.1	1q21-q25	2013-01-29			ENSG00000183853	ENSG00000183853		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	15734	protein-coding gene	gene with protein product	"nephrin-like protein 1"	607428				12424224	Standard	NM_001286349		Approved	NEPH1	uc001frn.4	Q96J84	OTTHUMG00000022438	ENST00000359209.6:c.1935C>T	1.37:g.158064571C>T						KIRREL_ENST00000416935.2_Silent_p.S545S|KIRREL_ENST00000392272.2_Silent_p.S542S|KIRREL_ENST00000359209.6_Silent_p.S645S|KIRREL_ENST00000368173.3_Silent_p.S661S|KIRREL_ENST00000360089.4_Silent_p.S481S	p.S459S			Q96J84	KIRR1_HUMAN			11	1389	+	all_hematologic(112;0.0378)		645			Ig-like C2-type 5.		Q5W0F8|Q5XKC6|Q7Z696|Q7Z7N8|Q8TB15|Q9H9N1|Q9NVA5	Silent	SNP	ENST00000359209.6	37	c.1377C>T	CCDS1172.2																																																																																				0.672	KIRREL-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058342.3	NM_018240		6	39	0	0	0	1	0	6	39					T	158064571	C	T	158064571	2	4	68	1	0	0	0	0	0	0	0	1	8324	767	27	1		1	KIRREL	1	158064571	Silent	SNP	C	TCGA-EJ-5521-01A-01D-1576-08	43581384	158064571	91186050	2	3506											
OR10Z1	128368	broad.mit.edu	37	chr1	158577155	158577155	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aatgctttcagagggagattGctgggtaaaggatgaaggtt	12	11	15	3	0	1	3	1	1	0	2	1	5	1	4	0	4	2	4	0	4	4	4			TCGA-EJ-5521-01A-01D-1576-08	TCGA-EJ-5521-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71f9ca33-4f59-47fa-98b2-6074451c14a4	6d784e6d-e22b-41f0-9ea2-154445f6fe64	g.chr1:158577155G>T	ENST00000361284.1	+	1	927	c.927G>T	c.(925-927)ttG>ttT	p.L309F		NM_001004478.1	NP_001004478.1	Q8NGY1	O10Z1_HUMAN	olfactory receptor, family 10, subfamily Z, member 1	309						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L309F(1)		endometrium(2)|large_intestine(6)|lung(21)|pancreas(1)|prostate(3)|skin(4)	37	all_hematologic(112;0.0378)					GAGGGAGATTGCTGGGTAAAG	0.478																																						ENST00000361284.1																			1	Substitution - Missense(1)	p.L309F(1)	prostate(1)	endometrium(2)|large_intestine(6)|lung(21)|pancreas(1)|prostate(3)|skin(4)	37						c.(925-927)ttG>ttT		olfactory receptor, family 10, subfamily Z, member 1							109	111	110					1																	158577155		2203	4300	6503	SO:0001583	missense	128368				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158577155G>T	AB065635	CCDS30901.1	1q23.1	2012-08-23			ENSG00000198967	ENSG00000198967		"GPCR / Class A : Olfactory receptors"	14996	protein-coding gene	gene with protein product							Standard	NM_001004478		Approved		uc010pio.2	Q8NGY1	OTTHUMG00000019637	ENST00000361284.1:c.927G>T	1.37:g.158577155G>T	ENSP00000354707:p.Leu309Phe						p.L309F	NM_001004478.1	NP_001004478.1	Q8NGY1	O10Z1_HUMAN			1	927	+	all_hematologic(112;0.0378)		309					Q5VYL0|Q6IFR7	Missense_Mutation	SNP	ENST00000361284.1	37	c.927G>T	CCDS30901.1	.	.	.	.	.	.	.	.	.	.	G	3.809	-0.040080	0.07497	.	.	ENSG00000198967	ENST00000361284	T	0.00532	6.75	5.57	-10.8	0.00216	.	0.323861	0.17213	N	0.182643	T	0.00073	0.0002	N	0.16656	0.425	0.09310	N	1	B	0.12013	0.005	B	0.13407	0.009	T	0.51934	-0.8642	10	0.10377	T	0.69	.	0.5833	0.00715	0.281:0.1969:0.1282:0.3939	.	309	Q8NGY1	O10Z1_HUMAN	F	309	ENSP00000354707:L309F	ENSP00000354707:L309F	L	+	3	2	OR10Z1	156843779	0.000000	0.05858	0.000000	0.03702	0.167000	0.22549	-0.617000	0.05584	-1.309000	0.02315	-0.188000	0.12872	TTG		0.478	OR10Z1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051853.1	NM_001004478		11	241	1	0	1.58986e-06	1	1.76652e-06	11	241					T	158577155	G	T	158577155	3	4	68	1	0	0	0	0	1	0	0	0	10923	1310	46	5	929	5	OR10Z1	1	158577155	Missense_Mutation	SNP	G	TCGA-EJ-5521-01A-01D-1576-08	512584	158577155	90673466	3	3507											
FAM5C	339479	broad.mit.edu	37	chr1	190129810	190129810	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtcttacctttgtcttggcAggctgatgaggggttgttta	5	17	13	6	0	2	2	0	2	2	0	2	2	2	2	1	4	1	4	1	4	2	6			TCGA-EJ-5521-01A-01D-1576-08	TCGA-EJ-5521-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71f9ca33-4f59-47fa-98b2-6074451c14a4	6d784e6d-e22b-41f0-9ea2-154445f6fe64	g.chr1:190129810A>G	ENST00000367462.3	-	7	1403	c.1172T>C	c.(1171-1173)cTg>cCg	p.L391P	BRINP3_ENST00000534846.1_Missense_Mutation_p.L289P	NM_199051.1	NP_950252.1	Q76B58	BRNP3_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 3	391					cell cycle arrest (GO:0007050)|cellular response to retinoic acid (GO:0071300)|negative regulation of mitotic cell cycle (GO:0045930)|positive regulation of neuron differentiation (GO:0045666)	dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)		p.L391P(1)									TTGTCTTGGCAGGCTGATGAG	0.373																																						ENST00000367462.3																			1	Substitution - Missense(1)	p.L391P(1)	prostate(1)	NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2)	164						c.(1171-1173)cTg>cCg									101	97	98					1																	190129810		2203	4300	6503	SO:0001583	missense	0					extracellular region		g.chr1:190129810A>G	AB111893	CCDS1373.1	1q31.1	2013-09-18	2013-09-18	2013-09-18	ENSG00000162670	ENSG00000162670			22393	protein-coding gene	gene with protein product			"family with sequence similarity 5, member C"	FAM5C		16018821, 15193423	Standard	NM_199051		Approved	DBCCR1L, DBCCR1L1	uc001gse.1	Q76B58	OTTHUMG00000035533	ENST00000367462.3:c.1172T>C	1.37:g.190129810A>G	ENSP00000356432:p.Leu391Pro					FAM5C_ENST00000484105.1_5'UTR|FAM5C_ENST00000534846.1_Missense_Mutation_p.L289P	p.L391P	NM_199051.1	NP_950252.1	Q76B58	FAM5C_HUMAN			7	1403	-	Prostate(682;0.198)		391					B3KVP1|B7Z260|O95726|Q2M330	Missense_Mutation	SNP	ENST00000367462.3	37	c.1172T>C	CCDS1373.1	.	.	.	.	.	.	.	.	.	.	A	20.8	4.046078	0.75846	.	.	ENSG00000162670	ENST00000367462;ENST00000534846	T;T	0.26957	1.97;1.7	5.6	5.6	0.85130	.	0.168530	0.40554	N	0.001065	T	0.46073	0.1374	M	0.68317	2.08	0.80722	D	1	D;D	0.69078	0.997;0.984	P;P	0.61658	0.892;0.69	T	0.46871	-0.9160	10	0.87932	D	0	.	13.7209	0.62725	1.0:0.0:0.0:0.0	.	289;391	B7Z260;Q76B58	.;FAM5C_HUMAN	P	391;289	ENSP00000356432:L391P;ENSP00000438022:L289P	ENSP00000356432:L391P	L	-	2	0	FAM5C	188396433	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.859000	0.92264	2.134000	0.65973	0.467000	0.42956	CTG		0.373	BRINP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086278.1	NM_199051		13	135	0	0	0	1	0	13	135					G	190129810	A	G	190129810	3	3	68	1	0	0	0	0	1	0	0	0	5594	188	7	4	1136	4	FAM5C	1	190129810	Missense_Mutation	SNP	A	TCGA-EJ-5521-01A-01D-1576-08	31552655	190129810	59120811	4	3508											
OR2B11	127623	broad.mit.edu	37	chr1	247614412	247614412	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tttctcagggtgtaggtgaaGggattgagagtgggggtgat	8	12	19	2	0	1	3	1	3	1	1	2	5	1	4	0	5	0	1	0	5	2	3			TCGA-EJ-5521-01A-01D-1576-08	TCGA-EJ-5521-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71f9ca33-4f59-47fa-98b2-6074451c14a4	6d784e6d-e22b-41f0-9ea2-154445f6fe64	g.chr1:247614412G>T	ENST00000318749.6	-	1	896	c.873C>A	c.(871-873)ccC>ccA	p.P291P		NM_001004492.1	NP_001004492.1	Q5JQS5	OR2BB_HUMAN	olfactory receptor, family 2, subfamily B, member 11	291						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.P291P(2)		endometrium(3)|kidney(13)|large_intestine(7)|lung(31)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	60	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.241)	OV - Ovarian serous cystadenocarcinoma(106;0.0188)			TGTAGGTGAAGGGATTGAGAG	0.488																																						ENST00000318749.6																			2	Substitution - coding silent(2)	p.P291P(2)	prostate(1)|lung(1)	endometrium(3)|kidney(13)|large_intestine(7)|lung(31)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	60						c.(871-873)ccC>ccA		olfactory receptor, family 2, subfamily B, member 11							180	193	189					1																	247614412		2203	4300	6503	SO:0001819	synonymous_variant	127623				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:247614412G>T		CCDS31090.1	1q44	2012-08-09			ENSG00000177535	ENSG00000177535		"GPCR / Class A : Olfactory receptors"	31249	protein-coding gene	gene with protein product							Standard	NM_001004492		Approved		uc010pyx.2	Q5JQS5	OTTHUMG00000040572	ENST00000318749.6:c.873C>A	1.37:g.247614412G>T							p.P291P	NM_001004492.1	NP_001004492.1	Q5JQS5	OR2BB_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0188)		1	896	-	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.241)	291					B2RP03	Silent	SNP	ENST00000318749.6	37	c.873C>A	CCDS31090.1																																																																																				0.488	OR2B11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097620.1	NM_001004492		6	423	1	0	0.0215528	1	0.0223925	6	423					T	247614412	G	T	247614412	2	4	68	1	0	0	0	0	0	0	0	1	10988	987	35	5		5	OR2B11	1	247614412	Silent	SNP	G	TCGA-EJ-5521-01A-01D-1576-08	57484602	247614412	1636209	5	3509											
OR2T3	343173	broad.mit.edu	37	chr1	248637353	248637353	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	catctcatccacaggatgaaTtctgccgccggccacaggaa	11	7	9	14	2	2	1	1	1	2	0	4	3	3	3	4	3	1	0	4	3	2	1	rs201122477		TCGA-EJ-5521-01A-01D-1576-08	TCGA-EJ-5521-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71f9ca33-4f59-47fa-98b2-6074451c14a4	6d784e6d-e22b-41f0-9ea2-154445f6fe64	g.chr1:248637353T>A	ENST00000359594.2	+	1	727	c.702T>A	c.(700-702)aaT>aaA	p.N234K		NM_001005495.1	NP_001005495.1	Q8NH03	OR2T3_HUMAN	olfactory receptor, family 2, subfamily T, member 3	234						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.N234K(1)		breast(2)|endometrium(5)|lung(19)|ovary(1)|prostate(1)|skin(3)	31	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			ACAGGATGAATTCTGCCGCCG	0.562																																						ENST00000359594.2																			1	Substitution - Missense(1)	p.N234K(1)	prostate(1)	breast(2)|endometrium(5)|lung(19)|ovary(1)|prostate(1)|skin(3)	31						c.(700-702)aaT>aaA		olfactory receptor, family 2, subfamily T, member 3							179	151	160					1																	248637353		2201	4299	6500	SO:0001583	missense	343173				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248637353T>A		CCDS31117.1	1q44	2012-08-09			ENSG00000196539	ENSG00000196539		"GPCR / Class A : Olfactory receptors"	14727	protein-coding gene	gene with protein product							Standard	NM_001005495		Approved		uc001iel.1	Q8NH03	OTTHUMG00000040452	ENST00000359594.2:c.702T>A	1.37:g.248637353T>A	ENSP00000352604:p.Asn234Lys						p.N234K	NM_001005495.1	NP_001005495.1	Q8NH03	OR2T3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	727	+	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		234					B2RNJ1	Missense_Mutation	SNP	ENST00000359594.2	37	c.702T>A	CCDS31117.1	.	.	.	.	.	.	.	.	.	.	t	11.33	1.606320	0.28623	.	.	ENSG00000196539	ENST00000359594	T	0.00340	8.04	2.37	-1.61	0.08399	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00178	0.0005	N	0.25380	0.74	0.09310	N	1	B	0.34349	0.45	B	0.43658	0.426	T	0.14811	-1.0459	9	0.09338	T	0.73	.	3.1107	0.06357	0.21:0.4757:0.0:0.3142	.	234	Q8NH03	OR2T3_HUMAN	K	234	ENSP00000352604:N234K	ENSP00000352604:N234K	N	+	3	2	OR2T3	246703976	0.000000	0.05858	0.001000	0.08648	0.033000	0.12548	-6.205000	0.00076	0.100000	0.17581	0.156000	0.16432	AAT		0.562	OR2T3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097348.1	NM_001005495		13	143	0	0	0	1	0	13	143					A	248637353	T	A	248637353	3	1	68	1	0	0	0	0	1	0	0	0	11023	1490	52	5	704	5	OR2T3	1	248637353	Missense_Mutation	SNP	T	TCGA-EJ-5521-01A-01D-1576-08	1022941	248637353	613268	6	3510											
NBAS	51594	broad.mit.edu	37	chr2	15378658	15378658	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tccaggtgggcaagtgatttCtccagatgattcaaagtatc	11	12	10	8	0	2	3	1	2	1	1	5	3	3	3	2	2	0	2	2	2	3	3			TCGA-EJ-5521-01A-01D-1576-08	TCGA-EJ-5521-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71f9ca33-4f59-47fa-98b2-6074451c14a4	6d784e6d-e22b-41f0-9ea2-154445f6fe64	g.chr2:15378658C>T	ENST00000281513.5	-	45	5902	c.5877G>A	c.(5875-5877)gaG>gaA	p.E1959E	NBAS_ENST00000441750.1_Silent_p.E1839E	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN	neuroblastoma amplified sequence	1959					negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:2000623)|nuclear-transcribed mRNA catabolic process (GO:0000956)	cytoplasm (GO:0005737)|membrane (GO:0016020)		p.E1959E(1)		NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						CAAGTGATTTCTCCAGATGAT	0.408																																						ENST00000281513.5																			1	Substitution - coding silent(1)	p.E1959E(1)	prostate(1)	NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						c.(5875-5877)gaG>gaA		neuroblastoma amplified sequence							108	109	109					2																	15378658		2203	4300	6503	SO:0001819	synonymous_variant	51594							g.chr2:15378658C>T	BC051792	CCDS1685.1	2p24.3	2009-02-23			ENSG00000151779	ENSG00000151779			15625	protein-coding gene	gene with protein product		608025				9926938, 12706883	Standard	NM_015909		Approved	NAG	uc002rcc.2	A2RRP1	OTTHUMG00000121153	ENST00000281513.5:c.5877G>A	2.37:g.15378658C>T						NBAS_ENST00000441750.1_Silent_p.E1839E	p.E1959E	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN			45	5902	-			1959					O95790|Q2VPJ7|Q53TK6|Q86V39|Q8NFY8|Q9Y3W5	Silent	SNP	ENST00000281513.5	37	c.5877G>A	CCDS1685.1	.	.	.	.	.	.	.	.	.	.	C	9.238	1.037479	0.19669	.	.	ENSG00000151779	ENST00000442506	.	.	.	5.97	2.06	0.26882	.	.	.	.	.	T	0.59183	0.2175	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.53358	-0.8450	4	.	.	.	.	10.4579	0.44561	0.0:0.6657:0.0:0.3343	.	.	.	.	K	1007	.	.	R	-	2	0	NBAS	15296109	1.000000	0.71417	0.843000	0.33291	0.975000	0.68041	1.032000	0.30178	0.371000	0.24564	0.655000	0.94253	AGA		0.408	NBAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241638.1	NM_015909		9	110	0	0	0	1	0	9	110					T	15378658	C	T	15378658	2	4	68	1	0	0	0	0	0	0	0	1	10186	912	32	3		3	NBAS	2	15378658	Silent	SNP	C	TCGA-EJ-5521-01A-01D-1576-08		15378658	227820715	7	3511											
DNMT3A	1788	broad.mit.edu	37	chr2	25505422	25505422	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctccctctgctggggccccGcccttctgccccccagcagg	2	8	10	21	1	3	0	0	0	3	0	4	0	3	0	7	3	3	2	7	3	0	1			TCGA-EJ-5521-01A-01D-1576-08	TCGA-EJ-5521-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71f9ca33-4f59-47fa-98b2-6074451c14a4	6d784e6d-e22b-41f0-9ea2-154445f6fe64	g.chr2:25505422G>A	ENST00000264709.3	-	4	673	c.336C>T	c.(334-336)ggC>ggT	p.G112G	DNMT3A_ENST00000406659.3_Silent_p.G112G|DNMT3A_ENST00000321117.5_Silent_p.G112G	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN	DNA (cytosine-5-)-methyltransferase 3 alpha	112					C-5 methylation of cytosine (GO:0090116)|cellular response to amino acid stimulus (GO:0071230)|DNA methylation (GO:0006306)|DNA methylation involved in embryo development (GO:0043045)|DNA methylation involved in gamete generation (GO:0043046)|DNA methylation on cytosine within a CG sequence (GO:0010424)|hypermethylation of CpG island (GO:0044027)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of gene expression by genetic imprinting (GO:0006349)|S-adenosylhomocysteine metabolic process (GO:0046498)|S-adenosylmethioninamine metabolic process (GO:0046499)|spermatogenesis (GO:0007283)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|euchromatin (GO:0000791)|nuclear heterochromatin (GO:0005720)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA (cytosine-5-)-methyltransferase activity, acting on CpG substrates (GO:0051718)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|unmethylated CpG binding (GO:0045322)	p.G112G(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTGGGGCCCCGCCCTTCTGCC	0.667			"Mis, F, N, S"		AML																																	ENST00000264709.3				Rec	yes		2	2p23	1788	"Mis, F, N, S"	DNA (cytosine-5-)-methyltransferase 3 alpha			L			AML		1	Substitution - coding silent(1)	p.G112G(1)	prostate(1)	breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021						c.(334-336)ggC>ggT		DNA (cytosine-5-)-methyltransferase 3 alpha							30	36	34					2																	25505422		2202	4299	6501	SO:0001819	synonymous_variant	1788				regulation of gene expression by genetic imprinting	cytoplasm|euchromatin|nuclear matrix	DNA (cytosine-5-)-methyltransferase activity|DNA binding|metal ion binding|protein binding	g.chr2:25505422G>A		CCDS1718.2, CCDS33157.1, CCDS46232.1	2p23	2014-09-17			ENSG00000119772	ENSG00000119772			2978	protein-coding gene	gene with protein product		602769				9662389, 10433969	Standard	NM_175630		Approved		uc002rgc.4	Q9Y6K1	OTTHUMG00000094777	ENST00000264709.3:c.336C>T	2.37:g.25505422G>A						DNMT3A_ENST00000321117.5_Silent_p.G112G|DNMT3A_ENST00000406659.3_Silent_p.G112G	p.G112G	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN			4	673	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		112					E9PEB8|Q86TE8|Q86XF5|Q8IZV0|Q8WXU9	Silent	SNP	ENST00000264709.3	37	c.336C>T	CCDS33157.1																																																																																				0.667	DNMT3A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000211587.1	NM_022552		4	96	0	0	0	1	0	4	96					A	25505422	G	A	25505422	2	1	68	1	0	0	0	0	0	0	0	1	4676	1074	38	1		1	DNMT3A	2	25505422	Silent	SNP	G	TCGA-EJ-5521-01A-01D-1576-08	10126764	25505422	217693951	8	3512											
NPAS2	4862	broad.mit.edu	37	chr2	101607290	101607290	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgatgcccgggtcctgtgaCgcaaggcagccctcggaagt	8	7	14	12	3	0	2	0	2	0	0	2	3	1	3	3	3	2	2	3	3	2	0	rs146215582	byFrequency	TCGA-EJ-5521-01A-01D-1576-08	TCGA-EJ-5521-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71f9ca33-4f59-47fa-98b2-6074451c14a4	6d784e6d-e22b-41f0-9ea2-154445f6fe64	g.chr2:101607290C>T	ENST00000335681.5	+	19	2352	c.2067C>T	c.(2065-2067)gaC>gaT	p.D689D	NPAS2_ENST00000542504.1_Silent_p.D754D|AC016738.4_ENST00000452364.1_RNA	NM_002518.3	NP_002509.2	Q99743	NPAS2_HUMAN	neuronal PAS domain protein 2	689					cellular lipid metabolic process (GO:0044255)|cellular response to DNA damage stimulus (GO:0006974)|central nervous system development (GO:0007417)|circadian regulation of gene expression (GO:0032922)|circadian sleep/wake cycle (GO:0042745)|locomotor rhythm (GO:0045475)|negative regulation of cell death (GO:0060548)|positive regulation of DNA repair (GO:0045739)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of response to DNA damage stimulus (GO:2001020)|response to redox state (GO:0051775)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	core promoter binding (GO:0001047)|DNA binding (GO:0003677)|Hsp90 protein binding (GO:0051879)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)	p.D689D(1)		cervix(1)|endometrium(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GGTCCTGTGACGCAAGGCAGC	0.607																																						ENST00000335681.5																			1	Substitution - coding silent(1)	p.D689D(1)	prostate(1)	cervix(1)|endometrium(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(2065-2067)gaC>gaT		neuronal PAS domain protein 2		C		1,4405	2.1+/-5.4	0,1,2202	72	63	66		2067	-6.1	0	2	dbSNP_134	66	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	NPAS2	NM_002518.3		0,3,6500	TT,TC,CC		0.0233,0.0227,0.0231		689/825	101607290	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	4862				central nervous system development|positive regulation of transcription from RNA polymerase II promoter|rhythmic process	transcription factor complex	DNA binding|Hsp90 protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr2:101607290C>T	U77970	CCDS2048.1	2q11.2	2013-05-21			ENSG00000170485	ENSG00000170485		"Basic helix-loop-helix proteins"	7895	protein-coding gene	gene with protein product		603347				9012850, 9079689	Standard	NM_002518		Approved	MOP4, PASD4, bHLHe9	uc002tap.1	Q99743	OTTHUMG00000130675	ENST00000335681.5:c.2067C>T	2.37:g.101607290C>T						NPAS2_ENST00000542504.1_Silent_p.D754D	p.D689D	NM_002518.3	NP_002509.2	Q99743	NPAS2_HUMAN			19	2352	+			689					Q4ZFV9|Q53SQ3|Q86V96|Q99629	Silent	SNP	ENST00000335681.5	37	c.2067C>T	CCDS2048.1	.	.	.	.	.	.	.	.	.	.	C	8.453	0.853537	0.17106	2.27E-4	2.33E-4	ENSG00000170485	ENST00000433408	.	.	.	4.63	-6.09	0.02145	.	.	.	.	.	T	0.26521	0.0648	.	.	.	0.33186	D	0.550166	.	.	.	.	.	.	T	0.35748	-0.9776	4	.	.	.	.	0.4387	0.00483	0.2119:0.2004:0.213:0.3747	.	.	.	.	C	188	.	.	R	+	1	0	NPAS2	100973722	0.000000	0.05858	0.007000	0.13788	0.950000	0.60333	-2.679000	0.00838	-1.138000	0.02884	0.462000	0.41574	CGC		0.607	NPAS2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253168.3			8	46	0	0	0	1	0	8	46					T	101607290	C	T	101607290	2	4	68	1	0	0	0	0	0	0	0	1	10563	535	19	1		1	NPAS2	2	101607290	Silent	SNP	C	TCGA-EJ-5521-01A-01D-1576-08	76101868	101607290	141592083	9	3513											
SLC35F5	80255	broad.mit.edu	37	chr2	114501368	114501368	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cacaggcacatacagaggttCactctggaatgtaacagaaa	16	7	9	9	0	2	2	1	0	1	2	2	3	2	3	0	3	2	3	0	3	4	3			TCGA-EJ-5521-01A-01D-1576-08	TCGA-EJ-5521-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71f9ca33-4f59-47fa-98b2-6074451c14a4	6d784e6d-e22b-41f0-9ea2-154445f6fe64	g.chr2:114501368C>T	ENST00000245680.2	-	6	897	c.484G>A	c.(484-486)Gaa>Aaa	p.E162K	SLC35F5_ENST00000409342.1_Missense_Mutation_p.E156K	NM_025181.2	NP_079457.2	Q8WV83	S35F5_HUMAN	solute carrier family 35, member F5	162					transport (GO:0006810)	integral component of membrane (GO:0016021)		p.E162K(1)		endometrium(1)|kidney(4)|large_intestine(2)|lung(7)|ovary(2)|prostate(3)|skin(1)	20						TACAGAGGTTCACTCTGGAAT	0.323																																						ENST00000245680.2																			1	Substitution - Missense(1)	p.E162K(1)	prostate(1)	endometrium(1)|kidney(4)|large_intestine(2)|lung(7)|ovary(2)|prostate(3)|skin(1)	20						c.(484-486)Gaa>Aaa		solute carrier family 35, member F5							155	151	153					2																	114501368		2203	4300	6503	SO:0001583	missense	80255				transport	integral to membrane		g.chr2:114501368C>T	AF529364	CCDS2119.1	2q14.1	2013-05-22			ENSG00000115084	ENSG00000115084		"Solute carriers"	23617	protein-coding gene	gene with protein product							Standard	XM_005263799		Approved	FLJ22004	uc002tku.1	Q8WV83	OTTHUMG00000131361	ENST00000245680.2:c.484G>A	2.37:g.114501368C>T	ENSP00000245680:p.Glu162Lys					SLC35F5_ENST00000409342.1_Missense_Mutation_p.E156K	p.E162K	NM_025181.2	NP_079457.2	Q8WV83	S35F5_HUMAN			6	897	-			162					Q9H6P8|Q9H7D8	Missense_Mutation	SNP	ENST00000245680.2	37	c.484G>A	CCDS2119.1	.	.	.	.	.	.	.	.	.	.	C	33	5.207455	0.95033	.	.	ENSG00000115084	ENST00000245680;ENST00000409106;ENST00000409342	T;T	0.47177	0.85;0.85	5.35	5.35	0.76521	.	0.122791	0.53938	D	0.000051	T	0.58337	0.2115	L	0.31926	0.97	0.58432	D	0.999998	D;D;D	0.69078	0.997;0.988;0.993	D;P;D	0.75020	0.985;0.794;0.971	T	0.49194	-0.8965	10	0.23891	T	0.37	-19.4832	19.2535	0.93935	0.0:1.0:0.0:0.0	.	162;156;162	B2RDY0;B8ZZV6;Q8WV83	.;.;S35F5_HUMAN	K	162;156;156	ENSP00000245680:E162K;ENSP00000386754:E156K	ENSP00000245680:E162K	E	-	1	0	SLC35F5	114217838	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.582000	0.74049	2.780000	0.95670	0.655000	0.94253	GAA		0.323	SLC35F5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254150.1	NM_025181		69	196	0	0	0	1	0	69	196					T	114501368	C	T	114501368	3	4	68	1	0	0	0	0	1	0	0	0	14592	835	29	3	1127	3	SLC35F5	2	114501368	Missense_Mutation	SNP	C	TCGA-EJ-5521-01A-01D-1576-08	12894078	114501368	128698005	10	3514											
TTN	7273	broad.mit.edu	37	chr2	179580256	179580256	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtgctgctgctggcactgcCtgctgcattgtgggcctcac	3	12	13	13	0	1	0	1	0	0	0	1	0	1	0	2	2	6	6	2	2	0	1			TCGA-EJ-5521-01A-01D-1576-08	TCGA-EJ-5521-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71f9ca33-4f59-47fa-98b2-6074451c14a4	6d784e6d-e22b-41f0-9ea2-154445f6fe64	g.chr2:179580256C>T	ENST00000591111.1	-	87	25158	c.24934G>A	c.(24934-24936)Ggc>Agc	p.G8312S	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.G7385S|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.G8629S|TTN-AS1_ENST00000431752.1_RNA			Q8WZ42	TITIN_HUMAN	titin	12490	Ig-like 65.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.G7385S(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTGGCACTGCCTGCTGCATTG	0.478																																						ENST00000589042.1																			1	Substitution - Missense(1)	p.G7385S(1)	prostate(1)	NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(25885-25887)Ggc>Agc		titin							82	85	84					2																	179580256		2094	4228	6322	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179580256C>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.24934G>A	2.37:g.179580256C>T	ENSP00000465570:p.Gly8312Ser					TTN_ENST00000591111.1_Missense_Mutation_p.G8312S|TTN_ENST00000342992.6_Missense_Mutation_p.G7385S|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000460472.2_Intron	p.G8629S	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		89	26109	-			8312			Ig-like 69.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.25885G>A		.	.	.	.	.	.	.	.	.	.	C	19.14	3.769803	0.69992	.	.	ENSG00000155657	ENST00000342992	T	0.74315	-0.83	5.33	5.33	0.75918	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.90848	0.7125	H	0.95114	3.625	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.93220	0.6608	9	0.87932	D	0	.	19.3896	0.94574	0.0:1.0:0.0:0.0	.	8312	Q8WZ42	TITIN_HUMAN	S	7385	ENSP00000343764:G7385S	ENSP00000343764:G7385S	G	-	1	0	TTN	179288501	1.000000	0.71417	0.994000	0.49952	0.861000	0.49209	7.776000	0.85560	2.637000	0.89404	0.655000	0.94253	GGC		0.478	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		12	85	0	0	0	1	0	12	85					T	179580256	C	T	179580256	3	4	68	1	0	0	0	0	1	0	0	0	16732	681	24	3	78740	3	TTN	2	179580256	Missense_Mutation	SNP	C	TCGA-EJ-5521-01A-01D-1576-08	65078888	179580256	63619117	11	3515											
WDFY1	57590	broad.mit.edu	37	chr2	224749392	224749392	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	agccccagcgtcttggtgtcCcacatctgctttatgttcca	6	13	8	14	1	2	0	0	0	2	0	4	0	4	0	4	1	3	2	4	1	1	4			TCGA-EJ-5521-01A-01D-1576-08	TCGA-EJ-5521-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71f9ca33-4f59-47fa-98b2-6074451c14a4	6d784e6d-e22b-41f0-9ea2-154445f6fe64	g.chr2:224749392C>A	ENST00000233055.4	-	9	1008	c.906G>T	c.(904-906)tgG>tgT	p.W302C		NM_020830.3	NP_065881.1	Q8IWB7	WDFY1_HUMAN	WD repeat and FYVE domain containing 1	302						cytosol (GO:0005829)|early endosome (GO:0005769)|nucleus (GO:0005634)	1-phosphatidylinositol binding (GO:0005545)|zinc ion binding (GO:0008270)	p.W302C(1)		NS(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(6)|prostate(2)	18		all_lung(227;0.00682)|Lung NSC(271;0.00859)|Renal(207;0.0112)|all_hematologic(139;0.189)		Epithelial(121;5.34e-10)|all cancers(144;1.67e-07)|Lung(261;0.00807)|LUSC - Lung squamous cell carcinoma(224;0.00843)		TCTTGGTGTCCCACATCTGCT	0.463																																						ENST00000233055.4																			1	Substitution - Missense(1)	p.W302C(1)	prostate(1)	NS(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(6)|prostate(2)	18						c.(904-906)tgG>tgT		WD repeat and FYVE domain containing 1							246	258	254					2																	224749392		2203	4300	6503	SO:0001583	missense	57590					cytosol|early endosome|nucleus	1-phosphatidylinositol binding|zinc ion binding	g.chr2:224749392C>A	AB037856	CCDS33387.1	2q36.2	2013-01-09	2003-03-13		ENSG00000085449	ENSG00000085449		"Zinc fingers, FYVE domain containing", "WD repeat domain containing"	20451	protein-coding gene	gene with protein product			"WD40 and FYVE domain containing 1"			11739631	Standard	NM_020830		Approved	KIAA1435, FENS-1, WDF1, ZFYVE17	uc002vnq.3	Q8IWB7	OTTHUMG00000153370	ENST00000233055.4:c.906G>T	2.37:g.224749392C>A	ENSP00000233055:p.Trp302Cys						p.W302C	NM_020830.3	NP_065881.1	Q8IWB7	WDFY1_HUMAN		Epithelial(121;5.34e-10)|all cancers(144;1.67e-07)|Lung(261;0.00807)|LUSC - Lung squamous cell carcinoma(224;0.00843)	9	1008	-		all_lung(227;0.00682)|Lung NSC(271;0.00859)|Renal(207;0.0112)|all_hematologic(139;0.189)	302					Q53S17|Q9H9D5|Q9P2B3	Missense_Mutation	SNP	ENST00000233055.4	37	c.906G>T	CCDS33387.1	.	.	.	.	.	.	.	.	.	.	C	24.5	4.535623	0.85812	.	.	ENSG00000085449	ENST00000233055	T	0.67865	-0.29	5.32	5.32	0.75619	Zinc finger, RING/FYVE/PHD-type (1);WD40 repeat-like-containing domain (1);Zinc finger, FYVE-type (2);Zinc finger, FYVE-related (1);Zinc finger, FYVE/PHD-type (1);	0.000000	0.85682	D	0.000000	D	0.84840	0.5561	M	0.88570	2.965	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.85227	0.1030	10	0.38643	T	0.18	-18.818	19.0334	0.92967	0.0:1.0:0.0:0.0	.	302	Q8IWB7	WDFY1_HUMAN	C	302	ENSP00000233055:W302C	ENSP00000233055:W302C	W	-	3	0	WDFY1	224457636	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.392000	0.79840	2.494000	0.84150	0.650000	0.86243	TGG		0.463	WDFY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330908.1	NM_020830		5	366	1	0	0.014758	1	0.0155347	5	366					A	224749392	C	A	224749392	3	1	68	1	0	0	0	0	1	0	0	0	17265	624	22	5	342	5	WDFY1	2	224749392	Missense_Mutation	SNP	C	TCGA-EJ-5521-01A-01D-1576-08	45169136	224749392	18449981	12	3516											
CHRND	1144	broad.mit.edu	37	chr2	233394757	233394757	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caccttctacctcatcatccGccgcaagcccctcttctaca	8	10	3	20	2	5	0	2	0	3	0	6	0	6	0	6	0	3	1	6	0	3	4	rs148869069	byFrequency	TCGA-EJ-5521-01A-01D-1576-08	TCGA-EJ-5521-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71f9ca33-4f59-47fa-98b2-6074451c14a4	6d784e6d-e22b-41f0-9ea2-154445f6fe64	g.chr2:233394757G>A	ENST00000258385.3	+	7	760	c.728G>A	c.(727-729)cGc>cAc	p.R243H	CHRND_ENST00000457943.2_Intron|CHRND_ENST00000543200.1_Missense_Mutation_p.R228H|CHRND_ENST00000536614.1_Silent_p.P206P	NM_000751.2	NP_000742.1	Q07001	ACHD_HUMAN	cholinergic receptor, nicotinic, delta (muscle)	243					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|muscle contraction (GO:0006936)|musculoskeletal movement (GO:0050881)|neuromuscular process (GO:0050905)|regulation of membrane potential (GO:0042391)|signal transduction (GO:0007165)|skeletal muscle tissue growth (GO:0048630)|synaptic transmission (GO:0007268)|transport (GO:0006810)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|acetylcholine-activated cation-selective channel activity (GO:0004889)	p.R243H(2)		breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)	34		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;1.89e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00078)|Lung(119;0.00579)|LUSC - Lung squamous cell carcinoma(224;0.00754)	Galantamine(DB00674)	CTCATCATCCGCCGCAAGCCC	0.607																																						ENST00000258385.3																			2	Substitution - Missense(2)	p.R243H(2)	ovary(1)|prostate(1)	breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)	34						c.(727-729)cGc>cAc		cholinergic receptor, nicotinic, delta (muscle)		G	HIS/ARG	3,4403	6.2+/-15.9	0,3,2200	174	143	154		728	5.2	1	2	dbSNP_134	154	1,8599	1.2+/-3.3	0,1,4299	yes	missense	CHRND	NM_000751.1	29	0,4,6499	AA,AG,GG		0.0116,0.0681,0.0308	probably-damaging	243/518	233394757	4,13002	2203	4300	6503	SO:0001583	missense	1144				muscle contraction|musculoskeletal movement|neuromuscular process|skeletal muscle tissue growth|synaptic transmission	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	nicotinic acetylcholine-activated cation-selective channel activity|receptor activity	g.chr2:233394757G>A	X55019	CCDS2494.1, CCDS58754.1	2q37.1	2012-02-11	2012-02-07		ENSG00000135902	ENSG00000135902		"Cholinergic receptors", "Ligand-gated ion channels / Acetylcholine receptors, nicotinic"	1965	protein-coding gene	gene with protein product	"acetylcholine receptor, nicotinic, delta (muscle)"	100720	"cholinergic receptor, nicotinic, delta"	ACHRD			Standard	NM_000751		Approved		uc002vsw.4	Q07001	OTTHUMG00000133261	ENST00000258385.3:c.728G>A	2.37:g.233394757G>A	ENSP00000258385:p.Arg243His					CHRND_ENST00000543200.1_Missense_Mutation_p.R228H|CHRND_ENST00000457943.2_Intron|CHRND_ENST00000536614.1_Silent_p.P206P	p.R243H	NM_000751.2	NP_000742.1	Q07001	ACHD_HUMAN		Epithelial(121;1.89e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00078)|Lung(119;0.00579)|LUSC - Lung squamous cell carcinoma(224;0.00754)	7	760	+		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)	243					A8K661|B4DT92|Q52LH4	Missense_Mutation	SNP	ENST00000258385.3	37	c.728G>A	CCDS2494.1	.	.	.	.	.	.	.	.	.	.	G	23.3	4.393946	0.83011	6.81E-4	1.16E-4	ENSG00000135902	ENST00000543200;ENST00000258385	T;T	0.80738	-1.41;-1.41	5.18	5.18	0.71444	Neurotransmitter-gated ion-channel ligand-binding (3);	0.418674	0.24967	N	0.034174	D	0.88258	0.6388	M	0.86343	2.81	0.80722	D	1	D;D;D	0.65815	0.995;0.994;0.994	D;D;D	0.64144	0.918;0.922;0.922	D	0.88969	0.3399	10	0.87932	D	0	.	7.0628	0.25135	0.212:0.0:0.788:0.0	.	228;243;243	B4DT92;A8K661;Q07001	.;.;ACHD_HUMAN	H	228;243	ENSP00000438380:R228H;ENSP00000258385:R243H	ENSP00000258385:R243H	R	+	2	0	CHRND	233103001	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.558000	0.60789	2.605000	0.88082	0.655000	0.94253	CGC		0.607	CHRND-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257038.2			18	57	0	0	0	1	0	18	57					A	233394757	G	A	233394757	3	1	68	1	0	0	0	0	1	0	0	0	3394	1087	38	1	754	1	CHRND	2	233394757	Missense_Mutation	SNP	G	TCGA-EJ-5521-01A-01D-1576-08	8645365	233394757	9804616	13	3517											
SCN11A	11280	broad.mit.edu	37	chr3	38991766	38991766	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctccttttggatggcaatccGcttctcaattgcagccagag	8	12	9	12	1	1	1	1	0	1	1	4	2	3	2	3	2	2	3	3	2	2	4			TCGA-EJ-5521-01A-01D-1576-08	TCGA-EJ-5521-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71f9ca33-4f59-47fa-98b2-6074451c14a4	6d784e6d-e22b-41f0-9ea2-154445f6fe64	g.chr3:38991766G>A	ENST00000302328.3	-	1	286	c.88C>T	c.(88-90)Cgg>Tgg	p.R30W	SCN11A_ENST00000444237.2_Missense_Mutation_p.R30W|SCN11A_ENST00000450244.1_Missense_Mutation_p.R30W|SCN11A_ENST00000456224.3_Missense_Mutation_p.R30W	NM_014139.2	NP_054858.2	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	30					cell death (GO:0008219)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|regulation of sensory perception of pain (GO:0051930)|response to drug (GO:0042493)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	C-fiber (GO:0044299)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)	p.R30W(1)		NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)|Valproic Acid(DB00313)|Zonisamide(DB00909)	ATGGCAATCCGCTTCTCAATT	0.517																																						ENST00000450244.1																			1	Substitution - Missense(1)	p.R30W(1)	prostate(1)	NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119						c.(88-90)Cgg>Tgg		sodium channel, voltage-gated, type XI, alpha subunit	Cocaine(DB00907)						118	111	113					3																	38991766		2203	4300	6503	SO:0001583	missense	11280				response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr3:38991766G>A	AF126739	CCDS33737.1	3p22.2	2012-02-26	2007-01-23		ENSG00000168356	ENSG00000168356		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10583	protein-coding gene	gene with protein product		604385	"sodium channel, voltage-gated, type XI, alpha polypeptide", "sodium channel, voltage-gated, type XII, alpha"	SCN12A		10444332, 16382098	Standard	NM_014139		Approved	Nav1.9, NaN, SNS-2	uc021wvy.1	Q9UI33	OTTHUMG00000048246	ENST00000302328.3:c.88C>T	3.37:g.38991766G>A	ENSP00000307599:p.Arg30Trp					SCN11A_ENST00000456224.3_Missense_Mutation_p.R30W|SCN11A_ENST00000444237.2_Missense_Mutation_p.R30W|SCN11A_ENST00000302328.3_Missense_Mutation_p.R30W	p.R30W			Q9UI33	SCNBA_HUMAN		Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	1	286	-			30					A6NN05|C9JD48|C9JR31|Q68K15|Q8NDX3|Q9UHE0|Q9UHM0	Missense_Mutation	SNP	ENST00000302328.3	37	c.88C>T	CCDS33737.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.331773	0.81801	.	.	ENSG00000168356	ENST00000302328;ENST00000450244;ENST00000456224;ENST00000444237	D;D;D;D	0.97959	-4.63;-4.63;-4.56;-4.47	5.08	3.26	0.37387	.	0.738998	0.11885	N	0.520110	D	0.98664	0.9552	M	0.92268	3.29	0.34374	D	0.692398	D	0.76494	0.999	P	0.57846	0.828	D	0.98438	1.0585	10	0.87932	D	0	.	12.1222	0.53897	0.0:0.0:0.6885:0.3115	.	30	Q9UI33	SCNBA_HUMAN	W	30	ENSP00000307599:R30W;ENSP00000400945:R30W;ENSP00000416757:R30W;ENSP00000408028:R30W	ENSP00000307599:R30W	R	-	1	2	SCN11A	38966770	1.000000	0.71417	0.974000	0.42286	0.972000	0.66771	2.892000	0.48625	0.514000	0.28300	0.655000	0.94253	CGG		0.517	SCN11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109746.4	NM_014139		9	216	0	0	0	1	0	9	216					A	38991766	G	A	38991766	3	1	68	1	0	0	0	0	1	0	0	0	13913	1086	38	1	5391	1	SCN11A	3	38991766	Missense_Mutation	SNP	G	TCGA-EJ-5521-01A-01D-1576-08		38991766	159030664	14	3518											
RTP3	83597	broad.mit.edu	37	chr3	46542309	46542309	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctacgcatgccaaaaccacAtctgtaggaacttaagcatt	14	9	6	12	1	1	0	0	0	1	0	1	1	1	1	3	1	5	3	3	1	6	4			TCGA-EJ-5521-01A-01D-1576-08	TCGA-EJ-5521-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71f9ca33-4f59-47fa-98b2-6074451c14a4	6d784e6d-e22b-41f0-9ea2-154445f6fe64	g.chr3:46542309A>G	ENST00000296142.3	+	2	1191	c.619A>G	c.(619-621)Atc>Gtc	p.I207V		NM_031440.1	NP_113628.1	Q9BQQ7	RTP3_HUMAN	receptor (chemosensory) transporter protein 3	207					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|protein targeting to membrane (GO:0006612)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)		p.I207V(1)		endometrium(1)|lung(4)|ovary(3)|prostate(1)|urinary_tract(1)	10				BRCA - Breast invasive adenocarcinoma(193;0.00114)|KIRC - Kidney renal clear cell carcinoma(197;0.0173)|Kidney(197;0.0204)		CCAAAACCACATCTGTAGGAA	0.433																																						ENST00000296142.3																			1	Substitution - Missense(1)	p.I207V(1)	prostate(1)	endometrium(1)|lung(4)|ovary(3)|prostate(1)|urinary_tract(1)	10						c.(619-621)Atc>Gtc		receptor (chemosensory) transporter protein 3							77	75	75					3																	46542309		2203	4300	6503	SO:0001583	missense	83597				detection of chemical stimulus involved in sensory perception of bitter taste|protein targeting to membrane	cytoplasm|integral to membrane	protein binding	g.chr3:46542309A>G	AJ312776	CCDS2740.1	3p21.3	2014-02-20	2006-11-21	2006-02-07	ENSG00000163825	ENSG00000163825		"Receptor transporter proteins"	15572	protein-coding gene	gene with protein product	"zinc finger, 3CxxC-type 3"	607181	"transmembrane protein 7", "receptor transporter protein 3"	TMEM7		16271481, 15550249, 16720576	Standard	NM_031440		Approved	LTM1, Z3CXXC3	uc003cps.1	Q9BQQ7	OTTHUMG00000133483	ENST00000296142.3:c.619A>G	3.37:g.46542309A>G	ENSP00000296142:p.Ile207Val						p.I207V	NM_031440.1	NP_113628.1	Q9BQQ7	RTP3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00114)|KIRC - Kidney renal clear cell carcinoma(197;0.0173)|Kidney(197;0.0204)	2	1191	+			207					A2RRP6	Missense_Mutation	SNP	ENST00000296142.3	37	c.619A>G	CCDS2740.1	.	.	.	.	.	.	.	.	.	.	A	0.005	-2.163646	0.00318	.	.	ENSG00000163825	ENST00000296142	T	0.17691	2.26	1.88	-2.46	0.06461	.	5.780470	0.00166	N	0.000003	T	0.07593	0.0191	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.18681	-1.0329	10	0.02654	T	1	5.0533	2.6976	0.05139	0.5125:0.0:0.2852:0.2023	.	207	Q9BQQ7	RTP3_HUMAN	V	207	ENSP00000296142:I207V	ENSP00000296142:I207V	I	+	1	0	RTP3	46517313	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-1.131000	0.03238	-0.639000	0.05502	0.379000	0.24179	ATC		0.433	RTP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257379.2	NM_031440		34	151	0	0	0	1	0	34	151					G	46542309	A	G	46542309	3	3	68	1	0	0	0	0	1	0	0	0	13735	217	8	4	625	4	RTP3	3	46542309	Missense_Mutation	SNP	A	TCGA-EJ-5521-01A-01D-1576-08	7550543	46542309	151480121	15	3519											
PPP2R3A	5523	broad.mit.edu	37	chr3	135801246	135801246	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	catcagccaggccgatctgtCtcgatacaatgaccagggta	11	8	10	12	2	3	1	1	1	2	0	4	3	3	1	3	2	2	1	3	2	3	2			TCGA-EJ-5521-01A-01D-1576-08	TCGA-EJ-5521-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71f9ca33-4f59-47fa-98b2-6074451c14a4	6d784e6d-e22b-41f0-9ea2-154445f6fe64	g.chr3:135801246C>T	ENST00000264977.3	+	8	3388	c.2771C>T	c.(2770-2772)tCt>tTt	p.S924F	PPP2R3A_ENST00000334546.2_Missense_Mutation_p.S303F|PPP2R3A_ENST00000490467.1_Missense_Mutation_p.S188F|PPP2R3A_ENST00000492624.2_3'UTR	NM_001190447.1|NM_002718.4	NP_001177376.1|NP_002709.2	Q06190	P2R3A_HUMAN	protein phosphatase 2, regulatory subunit B'', alpha	924					eye photoreceptor cell differentiation (GO:0001754)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of protein catabolic process (GO:0045732)|protein dephosphorylation (GO:0006470)|regulation of catalytic activity (GO:0050790)|regulation of cell motility involved in somitogenic axis elongation (GO:0090249)|somatic muscle development (GO:0007525)|somite development (GO:0061053)|Wnt signaling pathway involved in somitogenesis (GO:0090244)	protein phosphatase type 2A complex (GO:0000159)	calcium ion binding (GO:0005509)|protein phosphatase type 2A regulator activity (GO:0008601)	p.S303F(1)|p.S924F(1)		breast(2)|cervix(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						GCCGATCTGTCTCGATACAAT	0.348																																						ENST00000264977.3																			2	Substitution - Missense(2)	p.S303F(1)|p.S924F(1)	prostate(2)	breast(2)|cervix(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						c.(2770-2772)tCt>tTt		protein phosphatase 2, regulatory subunit B'', alpha							119	117	118					3																	135801246		2203	4300	6503	SO:0001583	missense	5523				protein dephosphorylation	protein phosphatase type 2A complex	calcium ion binding|protein binding|protein phosphatase type 2A regulator activity	g.chr3:135801246C>T	L12146	CCDS3087.1, CCDS3088.1, CCDS54642.1	3q22.2-q22.3	2013-01-10	2010-06-18	2002-04-26	ENSG00000073711	ENSG00000073711	3.1.3.16	"Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits", "EF-hand domain containing"	9307	protein-coding gene	gene with protein product		604944	"protein phosphatase 2 (formerly 2A), regulatory subunit B'' (PR 72), alpha isoform and (PR 130), beta isoform", "protein phosphatase 2 (formerly 2A), regulatory subunit B'', alpha"	PPP2R3		8392071	Standard	NM_002718		Approved		uc003eqv.2	Q06190	OTTHUMG00000159766	ENST00000264977.3:c.2771C>T	3.37:g.135801246C>T	ENSP00000264977:p.Ser924Phe					PPP2R3A_ENST00000490467.1_Missense_Mutation_p.S188F|PPP2R3A_ENST00000492624.2_3'UTR|PPP2R3A_ENST00000334546.2_Missense_Mutation_p.S303F	p.S924F	NM_001190447.1|NM_002718.4	NP_001177376.1|NP_002709.2	Q06190	P2R3A_HUMAN			8	3388	+			924					A8KAE7|B4DNU1|B7ZAE3|Q06189|Q9NPQ5	Missense_Mutation	SNP	ENST00000264977.3	37	c.2771C>T	CCDS3087.1	.	.	.	.	.	.	.	.	.	.	C	15.97	2.990868	0.54041	.	.	ENSG00000073711	ENST00000264977;ENST00000490467;ENST00000334546	T;T;T	0.54866	0.55;0.55;0.55	5.63	5.63	0.86233	EF-hand-like domain (1);	0.292074	0.30639	N	0.009198	T	0.64327	0.2588	M	0.68317	2.08	0.80722	D	1	P;D	0.58620	0.801;0.983	P;P	0.55055	0.476;0.767	T	0.65455	-0.6164	10	0.51188	T	0.08	.	14.2951	0.66308	0.0:0.8515:0.1484:0.0	.	303;924	Q06190-2;Q06190	.;P2R3A_HUMAN	F	924;188;303	ENSP00000264977:S924F;ENSP00000419344:S188F;ENSP00000334748:S303F	ENSP00000264977:S924F	S	+	2	0	PPP2R3A	137283936	1.000000	0.71417	0.997000	0.53966	0.982000	0.71751	2.492000	0.45311	2.652000	0.90054	0.563000	0.77884	TCT		0.348	PPP2R3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357232.1	NM_002718		12	166	0	0	0	1	0	12	166					T	135801246	C	T	135801246	3	4	68	1	0	0	0	0	1	0	0	0	12388	913	32	3	2933	3	PPP2R3A	3	135801246	Missense_Mutation	SNP	C	TCGA-EJ-5521-01A-01D-1576-08	89258937	135801246	62221184	16	3520											
HLTF	6596	broad.mit.edu	37	chr3	148760005	148760005	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agaaggtaagtatggcaacaAatttgccgcagtctaagcaa	16	8	10	7	1	1	1	0	0	1	1	1	1	1	1	1	2	3	5	1	2	7	4			TCGA-EJ-5521-01A-01D-1576-08	TCGA-EJ-5521-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71f9ca33-4f59-47fa-98b2-6074451c14a4	6d784e6d-e22b-41f0-9ea2-154445f6fe64	g.chr3:148760005A>T	ENST00000310053.5	-	19	2338	c.2145T>A	c.(2143-2145)atT>atA	p.I715I	HLTF_ENST00000494055.1_Silent_p.I715I|HLTF_ENST00000465259.1_Silent_p.I714I|HLTF_ENST00000392912.2_Silent_p.I715I	NM_003071.3|NM_139048.2	NP_003062.2|NP_620636.1	Q14527	HLTF_HUMAN	helicase-like transcription factor	715					chromatin modification (GO:0016568)|protein ubiquitination (GO:0016567)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.I715I(1)		breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	47			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)			TATGGCAACAAATTTGCCGCA	0.373																																						ENST00000310053.5																			1	Substitution - coding silent(1)	p.I715I(1)	prostate(1)	breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	47						c.(2143-2145)atT>atA		helicase-like transcription factor							91	89	90					3																	148760005		2203	4300	6503	SO:0001819	synonymous_variant	6596				chromatin modification|transcription, DNA-dependent	nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding	g.chr3:148760005A>T	L34673	CCDS33875.1	3q25.1-q26.1	2006-11-09	2006-11-09	2006-11-09	ENSG00000071794	ENSG00000071794		"RING-type (C3HC4) zinc fingers"	11099	protein-coding gene	gene with protein product		603257	"SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 3"	SNF2L3, SMARCA3		7558014	Standard	NM_139048		Approved	HIP116A, HLTF1, RNF80	uc003ewr.1	Q14527	OTTHUMG00000159534	ENST00000310053.5:c.2145T>A	3.37:g.148760005A>T						HLTF_ENST00000494055.1_Silent_p.I715I|HLTF_ENST00000392912.2_Silent_p.I715I|HLTF_ENST00000465259.1_Silent_p.I714I	p.I715I	NM_003071.3|NM_139048.2	NP_003062.2|NP_620636.1	Q14527	HLTF_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)		19	2338	-			715					D3DNH3|Q14536|Q16051|Q7KYJ6|Q86YA5|Q92652|Q96KM9	Silent	SNP	ENST00000310053.5	37	c.2145T>A	CCDS33875.1																																																																																				0.373	HLTF-003	KNOWN	alternative_3_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356064.1			42	113	0	0	0	1	0	42	113					T	148760005	A	T	148760005	2	4	68	1	0	0	0	0	0	0	0	1	7215	10	1	5		5	HLTF	3	148760005	Silent	SNP	A	TCGA-EJ-5521-01A-01D-1576-08	12958759	148760005	49262425	17	3521											
AADAC	13	broad.mit.edu	37	chr3	151545615	151545615	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	aaatttgttaattggagttcCctgctccctgagaggtttat	9	16	9	7	0	0	1	0	1	0	1	2	3	2	2	2	2	1	4	2	2	3	6			TCGA-EJ-5521-01A-01D-1576-08	TCGA-EJ-5521-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71f9ca33-4f59-47fa-98b2-6074451c14a4	6d784e6d-e22b-41f0-9ea2-154445f6fe64	g.chr3:151545615C>T	ENST00000232892.7	+	5	981	c.855C>T	c.(853-855)tcC>tcT	p.S285S	RP11-454C18.2_ENST00000483843.2_RNA|RP11-454C18.2_ENST00000475855.1_RNA	NM_001086.2	NP_001077.2	P22760	AAAD_HUMAN	arylacetamide deacetylase	285					positive regulation of triglyceride catabolic process (GO:0010898)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	catalytic activity (GO:0003824)|deacetylase activity (GO:0019213)|lipase activity (GO:0016298)|serine hydrolase activity (GO:0017171)|triglyceride lipase activity (GO:0004806)	p.S285S(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|prostate(5)|skin(2)	19		Myeloproliferative disorder(1037;0.0255)|all_neural(597;0.112)	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)			ATTGGAGTTCCCTGCTCCCTG	0.383																																					Ovarian(30;839 841 2699 32801 46334)	ENST00000232892.6																			1	Substitution - coding silent(1)	p.S285S(1)	prostate(1)	NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|prostate(5)|skin(2)	19						c.(853-855)tcC>tcT		arylacetamide deacetylase							55	58	57					3																	151545615		2203	4299	6502	SO:0001819	synonymous_variant	13				positive regulation of triglyceride catabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	carboxylesterase activity|deacetylase activity|serine hydrolase activity|triglyceride lipase activity	g.chr3:151545615C>T	L32179	CCDS33877.1	3q25.1	2014-03-18	2012-07-13		ENSG00000114771	ENSG00000114771	3.1.1.3		17	protein-coding gene	gene with protein product		600338	"arylacetamide deacetylase (esterase)"			8063807	Standard	XM_005247103		Approved	DAC, CES5A1	uc003eze.3	P22760	OTTHUMG00000159876	ENST00000232892.7:c.855C>T	3.37:g.151545615C>T						RP11-454C18.2_ENST00000483843.2_RNA|RP11-454C18.2_ENST00000475855.1_RNA	p.S285S	NM_001086.2	NP_001077.2	P22760	AAAD_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)		5	981	+		Myeloproliferative disorder(1037;0.0255)|all_neural(597;0.112)	285					A8K3L3|D3DNJ6|Q8N1A9	Silent	SNP	ENST00000232892.7	37	c.855C>T	CCDS33877.1																																																																																				0.383	AADAC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357883.2	NM_001086		9	200	0	0	0	1	0	9	200					T	151545615	C	T	151545615	2	4	68	1	0	0	0	0	0	0	0	1	10	610	22	3		3	AADAC	3	151545615	Silent	SNP	C	TCGA-EJ-5521-01A-01D-1576-08	2785610	151545615	46476815	18	3522											
TBL1XR1	79718	broad.mit.edu	37	chr3	176768285	176768286	+	Frame_Shift_Ins	INS	-	-	A																															cctgatgctaggagatcactINSaacagggttccaggcacaga																										TCGA-EJ-5521-01A-01D-1576-08	TCGA-EJ-5521-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71f9ca33-4f59-47fa-98b2-6074451c14a4	6d784e6d-e22b-41f0-9ea2-154445f6fe64	g.chr3:176768285_176768286insA	ENST00000430069.1	-	6	799_800	c.540_541insT	c.(538-543)gttagtfs	p.S181fs	TBL1XR1_ENST00000457928.2_Frame_Shift_Ins_p.S181fs|TBL1XR1-AS1_ENST00000454723.2_RNA			Q9BZK7	TBL1R_HUMAN	transducin (beta)-like 1 X-linked receptor 1	181					canonical Wnt signaling pathway (GO:0060070)|cellular lipid metabolic process (GO:0044255)|chromatin modification (GO:0016568)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)|transcriptional repressor complex (GO:0017053)	beta-catenin binding (GO:0008013)|histone binding (GO:0042393)|protein N-terminus binding (GO:0047485)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(7)|liver(1)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	31	all_cancers(143;1.44e-17)|Ovarian(172;0.00163)|Breast(254;0.214)	Acute lymphoblastic leukemia(1;0.00599)|all_hematologic(1;0.0632)|Prostate(884;0.215)	OV - Ovarian serous cystadenocarcinoma(80;9.83e-31)			AGGAGATCACTAACAGGGTTCC	0.361																																						ENST00000430069.1																			0				breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(7)|liver(1)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	31						c.(538-543)gtgtgafs		transducin (beta)-like 1 X-linked receptor 1																																				SO:0001589	frameshift_variant	79718				canonical Wnt receptor signaling pathway|cellular lipid metabolic process|chromatin modification|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|proteasomal ubiquitin-dependent protein catabolic process|transcription, DNA-dependent	spindle microtubule|transcriptional repressor complex	beta-catenin binding|histone binding|protein N-terminus binding|transcription corepressor activity|transcription regulatory region DNA binding	g.chr3:176768285_176768286insA	AK022956	CCDS46961.1	3q26.33	2013-01-10	2008-01-17		ENSG00000177565	ENSG00000177565		"WD repeat domain containing"	29529	protein-coding gene	gene with protein product		608628	"transducin (beta)-like 1X-linked receptor 1"			11063877, 11931768	Standard	NM_024665		Approved	IRA1, FLJ12894, TBLR1, C21, DC42	uc003fix.4	Q9BZK7	OTTHUMG00000157140	ENST00000430069.1:c.541dupT	3.37:g.176768287_176768287dupA	ENSP00000405574:p.Ser181fs					TBL1XR1_ENST00000457928.2_Frame_Shift_Ins_p.*181fs	p.*181fs			Q9BZK7	TBL1R_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;9.83e-31)		6	799_800	-	all_cancers(143;1.44e-17)|Ovarian(172;0.00163)|Breast(254;0.214)	Acute lymphoblastic leukemia(1;0.00599)|all_hematologic(1;0.0632)|Prostate(884;0.215)	181					D3DNQ9|Q14DC3|Q9H2I1|Q9H9A1	Frame_Shift_Ins	INS	ENST00000430069.1	37	c.540_541insT	CCDS46961.1																																																																																				0.361	TBL1XR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347587.3	NM_024665		15	64						15	64	---	---	---	---	A	176768286	-	A	176768285	7	5	68	1	0	1	1	0	0	0	0	0	15637	1522	53	0	1047	0	TBL1XR1	3	176768285	Frame_Shift_Ins	INS	-	TCGA-EJ-5521-01A-01D-1576-08	25222670	176768285	21254145	19	3523											
FAT4	79633	broad.mit.edu	37	chr4	126371608	126371608	+	Nonsense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	caattcttctacaggtatatTaacactagccaaagctcttg	13	13	5	10	0	3	0	0	0	3	0	3	0	3	0	1	1	4	2	1	1	7	8			TCGA-EJ-5521-01A-01D-1576-08	TCGA-EJ-5521-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71f9ca33-4f59-47fa-98b2-6074451c14a4	6d784e6d-e22b-41f0-9ea2-154445f6fe64	g.chr4:126371608T>A	ENST00000394329.3	+	9	9450	c.9437T>A	c.(9436-9438)tTa>tAa	p.L3146*	FAT4_ENST00000335110.5_Nonsense_Mutation_p.L1444*	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	3146	Cadherin 30. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.L3146*(2)		NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						ACAGGTATATTAACACTAGCC	0.398																																						ENST00000394329.3																			2	Substitution - Nonsense(2)	p.L3146*(2)	prostate(2)	NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						c.(9436-9438)tTa>tAa		FAT atypical cadherin 4							69	72	71					4																	126371608		2203	4300	6503	SO:0001587	stop_gained	79633				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:126371608T>A	AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"Cadherins / Cadherin-related"	23109	protein-coding gene	gene with protein product	"cadherin-related family member 11"	612411	"FAT tumor suppressor homolog 4 (Drosophila)"			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.9437T>A	4.37:g.126371608T>A	ENSP00000377862:p.Leu3146*					FAT4_ENST00000335110.5_Nonsense_Mutation_p.L1444*	p.L3146*	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN			9	9450	+			3146			Cadherin 30.		A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Nonsense_Mutation	SNP	ENST00000394329.3	37	c.9437T>A	CCDS3732.3	.	.	.	.	.	.	.	.	.	.	T	48	14.797669	0.99810	.	.	ENSG00000196159	ENST00000394329;ENST00000335110	.	.	.	5.63	5.63	0.86233	.	0.339073	0.15635	U	0.252211	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07482	T	0.82	.	15.87	0.79108	0.0:0.0:0.0:1.0	.	.	.	.	X	3146;1444	.	ENSP00000335169:L1444X	L	+	2	0	FAT4	126591058	0.994000	0.37717	0.005000	0.12908	0.098000	0.18820	7.880000	0.87243	2.145000	0.66743	0.533000	0.62120	TTA		0.398	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582		4	145	0	0	0	1	0	4	145					A	126371608	T	A	126371608	4	1	68	1	0	0	0	0	0	1	0	0	5692	1764	61	5	9471	5	FAT4	4	126371608	Nonsense_Mutation	SNP	T	TCGA-EJ-5521-01A-01D-1576-08		126371608	64782668	20	3524											
FAT4	79633	broad.mit.edu	37	chr4	126371768	126371768	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtattcctctctgatgactaTttccctactgttttggaaaa	9	17	6	9	0	1	2	0	2	1	0	4	3	3	3	2	1	1	2	2	1	5	7			TCGA-EJ-5521-01A-01D-1576-08	TCGA-EJ-5521-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71f9ca33-4f59-47fa-98b2-6074451c14a4	6d784e6d-e22b-41f0-9ea2-154445f6fe64	g.chr4:126371768T>C	ENST00000394329.3	+	9	9610	c.9597T>C	c.(9595-9597)taT>taC	p.Y3199Y	FAT4_ENST00000335110.5_Silent_p.Y1497Y	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	3199	Cadherin 31. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.Y3199Y(2)		NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						CTGATGACTATTTCCCTACTG	0.418																																						ENST00000394329.3																			2	Substitution - coding silent(2)	p.Y3199Y(2)	prostate(2)	NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						c.(9595-9597)taT>taC		FAT atypical cadherin 4							98	88	91					4																	126371768		2203	4300	6503	SO:0001819	synonymous_variant	79633				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:126371768T>C	AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"Cadherins / Cadherin-related"	23109	protein-coding gene	gene with protein product	"cadherin-related family member 11"	612411	"FAT tumor suppressor homolog 4 (Drosophila)"			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.9597T>C	4.37:g.126371768T>C						FAT4_ENST00000335110.5_Silent_p.Y1497Y	p.Y3199Y	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN			9	9610	+			3199			Cadherin 31.		A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Silent	SNP	ENST00000394329.3	37	c.9597T>C	CCDS3732.3																																																																																				0.418	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582		9	141	0	0	0	1	0	9	141					C	126371768	T	C	126371768	2	2	68	1	0	0	0	0	0	0	0	1	5692	1500	52	4		4	FAT4	4	126371768	Silent	SNP	T	TCGA-EJ-5521-01A-01D-1576-08	160	126371768	64782508	21	3525											
FNIP2	57600	broad.mit.edu	37	chr4	159790453	159790453	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggactgaaggagacattcccCgaaatgaaagctcagatagc	15	6	11	9	1	1	4	1	2	0	2	2	7	2	5	2	2	2	1	2	2	4	2			TCGA-EJ-5521-01A-01D-1576-08	TCGA-EJ-5521-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71f9ca33-4f59-47fa-98b2-6074451c14a4	6d784e6d-e22b-41f0-9ea2-154445f6fe64	g.chr4:159790453C>T	ENST00000264433.6	+	13	2740	c.2665C>T	c.(2665-2667)Cga>Tga	p.R889*	FNIP2_ENST00000379346.3_Nonsense_Mutation_p.R912*	NM_020840.1	NP_065891.1	Q9P278	FNIP2_HUMAN	folliculin interacting protein 2	889	Interaction with PRKAA1.				intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein phosphorylation (GO:0006468)|regulation of protein phosphorylation (GO:0001932)	cytoplasm (GO:0005737)|microtubule organizing center (GO:0005815)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.R215*(1)|p.R889*(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)	9	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.00936)		AGACATTCCCCGAAATGAAAG	0.592																																						ENST00000264433.6																			2	Substitution - Nonsense(2)	p.R215*(1)|p.R889*(1)	prostate(2)	endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)	9						c.(2665-2667)Cga>Tga		folliculin interacting protein 2							26	29	28					4																	159790453		2074	4210	6284	SO:0001587	stop_gained	57600				DNA damage response, signal transduction resulting in induction of apoptosis|protein phosphorylation|regulation of protein phosphorylation	cytoplasm	protein binding	g.chr4:159790453C>T	AB040883	CCDS47155.1	4q32.1	2012-10-31			ENSG00000052795	ENSG00000052795			29280	protein-coding gene	gene with protein product	"O6-methylguanine-induced apoptosis 1"	612768				18403135	Standard	NM_020840		Approved	KIAA1450, FNIPL, MAPO1	uc003iqe.4	Q9P278	OTTHUMG00000161983	ENST00000264433.6:c.2665C>T	4.37:g.159790453C>T	ENSP00000264433:p.Arg889*					FNIP2_ENST00000379346.3_Nonsense_Mutation_p.R912*	p.R889*	NM_020840.1	NP_065891.1	Q9P278	FNIP2_HUMAN		COAD - Colon adenocarcinoma(41;0.00936)	13	2740	+	all_hematologic(180;0.24)		889			Interaction with PRKAA1.		Q05DC3|Q96I31|Q9H994	Nonsense_Mutation	SNP	ENST00000264433.6	37	c.2665C>T	CCDS47155.1	.	.	.	.	.	.	.	.	.	.	C	34	5.321145	0.95682	.	.	ENSG00000052795	ENST00000264433;ENST00000379346	.	.	.	5.57	1.61	0.23674	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.649	0.62299	0.5771:0.4229:0.0:0.0	.	.	.	.	X	889;912	.	.	R	+	1	2	FNIP2	160009903	0.998000	0.40836	0.980000	0.43619	0.310000	0.27922	2.869000	0.48444	0.092000	0.17331	-0.274000	0.10170	CGA		0.592	FNIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366602.1	NM_020840		3	27	0	0	0	1	0	3	27					T	159790453	C	T	159790453	4	4	68	1	0	0	0	0	0	1	0	0	5976	644	23	2	2715	2	FNIP2	4	159790453	Nonsense_Mutation	SNP	C	TCGA-EJ-5521-01A-01D-1576-08	33418685	159790453	31363823	22	3526											
WDR17	116966	broad.mit.edu	37	chr4	177083293	177083293	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atggtcgagcagtactagccGcatgttgccatcttgccata	9	11	10	11	2	1	0	0	0	1	0	2	1	1	0	3	1	5	4	3	1	3	5	rs189140426		TCGA-EJ-5521-01A-01D-1576-08	TCGA-EJ-5521-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71f9ca33-4f59-47fa-98b2-6074451c14a4	6d784e6d-e22b-41f0-9ea2-154445f6fe64	g.chr4:177083293G>A	ENST00000280190.4	+	22	3046	c.2890G>A	c.(2890-2892)Gca>Aca	p.A964T	WDR17_ENST00000393643.2_Missense_Mutation_p.A940T|WDR17_ENST00000508596.1_Missense_Mutation_p.A940T|WDR17_ENST00000507824.2_Missense_Mutation_p.A947T			Q8IZU2	WDR17_HUMAN	WD repeat domain 17	964								p.A964T(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(18)|lung(46)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	92		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)		AGTACTAGCCGCATGTTGCCA	0.353													G|||	1	0.000199681	0	0.0014	5008	,	,		18199	0		0	False		,,,				2504	0					ENST00000393643.2																			1	Substitution - Missense(1)	p.A964T(1)	prostate(1)	breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(18)|lung(46)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	92						c.(2818-2820)Gca>Aca		WD repeat domain 17							88	85	86					4																	177083293		2203	4300	6503	SO:0001583	missense	116966							g.chr4:177083293G>A	AF492460	CCDS3825.1, CCDS43284.1, CCDS43284.2	4q34	2013-01-09			ENSG00000150627	ENSG00000150627		"WD repeat domain containing"	16661	protein-coding gene	gene with protein product		609005				12401215	Standard	NM_170710		Approved		uc003iuj.3	Q8IZU2	OTTHUMG00000160791	ENST00000280190.4:c.2890G>A	4.37:g.177083293G>A	ENSP00000280190:p.Ala964Thr					WDR17_ENST00000507824.2_Missense_Mutation_p.A947T|WDR17_ENST00000508596.1_Missense_Mutation_p.A940T|WDR17_ENST00000280190.4_Missense_Mutation_p.A964T	p.A940T	NM_170710.4	NP_733828.2	Q8IZU2	WDR17_HUMAN		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)	21	3070	+		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)	964					E7EQX0|Q0QD35	Missense_Mutation	SNP	ENST00000280190.4	37	c.2818G>A	CCDS3825.1	1|1	4.578754578754579E-4|4.578754578754579E-4	0|0	0.0|0.0	1|1	0.0027624309392265192|0.0027624309392265192	0|0	0.0|0.0	0|0	0.0|0.0	G|G	32|32	5.112128|5.112128	0.94339|0.94339	.|.	.|.	ENSG00000150627|ENSG00000150627	ENST00000508596;ENST00000393643;ENST00000280190;ENST00000507824|ENST00000443118	T;T;T|.	0.73897|.	-0.79;-0.71;-0.78|.	5.72|5.72	5.72|5.72	0.89469|0.89469	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.76793|0.76793	0.4037|0.4037	M|M	0.72894|0.72894	2.215|2.215	0.58432|0.58432	D|D	0.999995|0.999995	D;D;D|.	0.76494|.	0.999;0.992;0.996|.	P;P;P|.	0.56563|.	0.801;0.603;0.603|.	T|T	0.74811|0.74811	-0.3538|-0.3538	10|5	0.87932|.	D|.	0|.	-18.4811|-18.4811	19.8616|19.8616	0.96786|0.96786	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	940;940;964|.	E7EP77;E7EQX0;Q8IZU2|.	.;.;WDR17_HUMAN|.	T|H	940;940;964;947|206	ENSP00000422763:A940T;ENSP00000377258:A940T;ENSP00000280190:A964T|.	ENSP00000280190:A964T|.	A|R	+|+	1|2	0|0	WDR17|WDR17	177320287|177320287	1.000000|1.000000	0.71417|0.71417	0.205000|0.205000	0.23548|0.23548	0.878000|0.878000	0.50629|0.50629	7.287000|7.287000	0.78681|0.78681	2.705000|2.705000	0.92388|0.92388	0.655000|0.655000	0.94253|0.94253	GCA|CGC		0.353	WDR17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362334.2			15	62	0	0	0	1	0	15	62					A	177083293	G	A	177083293	3	1	68	1	0	0	0	0	1	0	0	0	17274	1087	38	1	2972	1	WDR17	4	177083293	Missense_Mutation	SNP	G	TCGA-EJ-5521-01A-01D-1576-08	17292840	177083293	14070983	23	3527											
FCHO2	115548	broad.mit.edu	37	chr5	72370579	72370579	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tatattctaggtgtgtcacgGggtcccagccctgtcagcct	6	12	11	12	1	3	0	2	0	1	0	4	0	4	0	3	3	2	0	3	3	3	4			TCGA-EJ-5521-01A-01D-1576-08	TCGA-EJ-5521-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71f9ca33-4f59-47fa-98b2-6074451c14a4	6d784e6d-e22b-41f0-9ea2-154445f6fe64	g.chr5:72370579G>T	ENST00000430046.2	+	20	1706	c.1590G>T	c.(1588-1590)cgG>cgT	p.R530R	FCHO2_ENST00000512348.1_Silent_p.R497R|FCHO2_ENST00000341845.6_Silent_p.R530R	NM_001146032.1|NM_138782.2	NP_001139504.1|NP_620137.2	Q0JRZ9	FCHO2_HUMAN	FCH domain only 2	530	Mediates interaction with DAB2, EPS15, EPS15R and ITSN1.				clathrin coat assembly (GO:0048268)|clathrin-mediated endocytosis (GO:0072583)|membrane invagination (GO:0010324)|protein localization to plasma membrane (GO:0072659)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|plasma membrane (GO:0005886)	phosphatidylinositol binding (GO:0035091)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylserine binding (GO:0001786)	p.R530R(2)		cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|prostate(1)	17		Lung NSC(167;0.0465)|Ovarian(174;0.0908)|Prostate(461;0.165)		OV - Ovarian serous cystadenocarcinoma(47;4.6e-53)		GTGTGTCACGGGGTCCCAGCC	0.408																																						ENST00000430046.2																			2	Substitution - coding silent(2)	p.R530R(2)	prostate(2)	cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|prostate(1)	17						c.(1588-1590)cgG>cgT		FCH domain only 2							84	81	82					5																	72370579		1876	4106	5982	SO:0001819	synonymous_variant	115548							g.chr5:72370579G>T	AL831971	CCDS47230.1, CCDS54868.1	5q13.2	2005-08-15			ENSG00000157107	ENSG00000157107			25180	protein-coding gene	gene with protein product		613438				15254787	Standard	NM_138782		Approved		uc003kcl.3	Q0JRZ9	OTTHUMG00000162413	ENST00000430046.2:c.1590G>T	5.37:g.72370579G>T						FCHO2_ENST00000341845.6_Silent_p.R530R|FCHO2_ENST00000512348.1_Silent_p.R497R	p.R530R	NM_001146032.1|NM_138782.2	NP_001139504.1|NP_620137.2	Q0JRZ9	FCHO2_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;4.6e-53)	20	1706	+		Lung NSC(167;0.0465)|Ovarian(174;0.0908)|Prostate(461;0.165)	530					A8K6W7|B2RNQ9|B4DHK0|E9PG79|Q0JTJ3|Q96CF5	Silent	SNP	ENST00000430046.2	37	c.1590G>T	CCDS47230.1																																																																																				0.408	FCHO2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000368795.3	XM_291142		3	37	1	0	1	1	1	3	37					T	72370579	G	T	72370579	2	4	68	1	0	0	0	0	0	0	0	1	5788	1219	43	5		5	FCHO2	5	72370579	Silent	SNP	G	TCGA-EJ-5521-01A-01D-1576-08		72370579	108544681	24	3528											
FAM71B	153745	broad.mit.edu	37	chr5	156592755	156592755	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacggccagtggcgagtttcAggcgcagctgctgtttctca	6	11	13	11	3	2	0	2	0	1	0	3	1	2	0	1	3	3	5	1	3	1	3			TCGA-EJ-5521-01A-01D-1576-08	TCGA-EJ-5521-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71f9ca33-4f59-47fa-98b2-6074451c14a4	6d784e6d-e22b-41f0-9ea2-154445f6fe64	g.chr5:156592755A>G	ENST00000302938.4	-	1	520	c.425T>C	c.(424-426)cTg>cCg	p.L142P		NM_130899.2	NP_570969.2	Q8TC56	FA71B_HUMAN	family with sequence similarity 71, member B	142						nucleus (GO:0005634)		p.L142P(1)		NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GGCGAGTTTCAGGCGCAGCTG	0.493																																						ENST00000302938.4																			1	Substitution - Missense(1)	p.L142P(1)	prostate(1)	NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68						c.(424-426)cTg>cCg		family with sequence similarity 71, member B							88	93	91					5																	156592755		2203	4300	6503	SO:0001583	missense	153745					nucleus		g.chr5:156592755A>G		CCDS4335.1	5q33.3	2005-08-09			ENSG00000170613	ENSG00000170613			28397	protein-coding gene	gene with protein product						12477932	Standard	NM_130899		Approved	MGC26988	uc003lwn.3	Q8TC56	OTTHUMG00000130246	ENST00000302938.4:c.425T>C	5.37:g.156592755A>G	ENSP00000305596:p.Leu142Pro						p.L142P	NM_130899.2	NP_570969.2	Q8TC56	FA71B_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		1	520	-	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	142					Q1EDD9|Q8TC64|Q96LY8	Missense_Mutation	SNP	ENST00000302938.4	37	c.425T>C	CCDS4335.1	.	.	.	.	.	.	.	.	.	.	A	12.87	2.066706	0.36470	.	.	ENSG00000170613	ENST00000302938	T	0.27104	1.69	4.56	4.56	0.56223	.	0.144262	0.31519	N	0.007515	T	0.53706	0.1813	M	0.87900	2.915	0.58432	D	0.999997	D	0.89917	1.0	D	0.97110	1.0	T	0.61128	-0.7125	10	0.87932	D	0	-4.2095	10.8845	0.46960	1.0:0.0:0.0:0.0	.	142	Q8TC56	FA71B_HUMAN	P	142	ENSP00000305596:L142P	ENSP00000305596:L142P	L	-	2	0	FAM71B	156525333	0.994000	0.37717	0.972000	0.41901	0.084000	0.17831	4.730000	0.62015	1.999000	0.58509	0.533000	0.62120	CTG		0.493	FAM71B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252570.2	NM_130899		3	109	0	0	0	1	0	3	109					G	156592755	A	G	156592755	3	3	68	1	0	0	0	0	1	0	0	0	5608	188	7	4	1400	4	FAM71B	5	156592755	Missense_Mutation	SNP	A	TCGA-EJ-5521-01A-01D-1576-08	84222176	156592755	24322505	25	3529											
NIPAL4	348938	broad.mit.edu	37	chr5	156899410	156899410	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tttgtcattgccccacgttaCgggcaaaggaatatcctcat	10	12	8	11	2	2	0	2	0	0	0	3	1	3	1	3	2	2	2	3	2	4	4			TCGA-EJ-5521-01A-01D-1576-08	TCGA-EJ-5521-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71f9ca33-4f59-47fa-98b2-6074451c14a4	6d784e6d-e22b-41f0-9ea2-154445f6fe64	g.chr5:156899410C>T	ENST00000311946.7	+	6	959	c.843C>T	c.(841-843)taC>taT	p.Y281Y	NIPAL4_ENST00000435489.2_Silent_p.Y262Y|ADAM19_ENST00000430702.2_Intron	NM_001099287.1	NP_001092757.1	Q0D2K0	NIPA4_HUMAN	NIPA-like domain containing 4	281						integral component of membrane (GO:0016021)	magnesium ion transmembrane transporter activity (GO:0015095)	p.Y219Y(1)		breast(3)|endometrium(3)|kidney(1)|large_intestine(1)|lung(12)|prostate(1)|skin(1)	22						CCCCACGTTACGGGCAAAGGA	0.512											OREG0016979	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000311946.7																			1	Substitution - coding silent(1)	p.Y219Y(1)	prostate(1)	breast(3)|endometrium(3)|kidney(1)|large_intestine(1)|lung(12)|prostate(1)|skin(1)	22						c.(841-843)taC>taT		NIPA-like domain containing 4							222	222	222					5																	156899410		2147	4258	6405	SO:0001819	synonymous_variant	348938					integral to membrane	receptor activity	g.chr5:156899410C>T	AK026158	CCDS47328.1, CCDS54944.1	5q33.3	2009-03-24	2009-03-24		ENSG00000172548	ENSG00000172548			28018	protein-coding gene	gene with protein product	"ichthyin"	609383	"NIPA-like 4"			8619474, 9110174, 15317751	Standard	NM_001099287		Approved	ICHYN	uc003lwx.4	Q0D2K0	OTTHUMG00000163497	ENST00000311946.7:c.843C>T	5.37:g.156899410C>T			OREG0016979	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1782	NIPAL4_ENST00000435489.2_Silent_p.Y262Y|ADAM19_ENST00000430702.2_Intron	p.Y281Y	NM_001099287.1	NP_001092757.1	Q0D2K0	NIPA4_HUMAN			6	959	+			281					A8S6F1|A8S6F5|A8S6F8|B4DLF3|Q0D2J8|Q0D2J9	Silent	SNP	ENST00000311946.7	37	c.843C>T	CCDS47328.1																																																																																				0.512	NIPAL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373789.1	NM_001099287		27	302	0	0	0	1	0	27	302					T	156899410	C	T	156899410	2	4	68	1	0	0	0	0	0	0	0	1	10427	547	19	1		1	NIPAL4	5	156899410	Silent	SNP	C	TCGA-EJ-5521-01A-01D-1576-08	306655	156899410	24015850	26	3530											
CPEB4	80315	broad.mit.edu	37	chr5	173317315	173317316	+	Frame_Shift_Ins	INS	-	-	G																															caagtttctttcaccagggaINSggggtccctgctgcttcggc																										TCGA-EJ-5521-01A-01D-1576-08	TCGA-EJ-5521-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71f9ca33-4f59-47fa-98b2-6074451c14a4	6d784e6d-e22b-41f0-9ea2-154445f6fe64	g.chr5:173317315_173317316insG	ENST00000265085.5	+	1	2033_2034	c.579_580insG	c.(580-582)gggfs	p.G194fs	CPEB4_ENST00000520867.1_Frame_Shift_Ins_p.G194fs|CPEB4_ENST00000522336.1_5'Flank|CPEB4_ENST00000517880.1_5'Flank|CPEB4_ENST00000519835.1_Frame_Shift_Ins_p.G194fs|CPEB4_ENST00000334035.5_Frame_Shift_Ins_p.G194fs	NM_030627.2	NP_085130.2	Q17RY0	CPEB4_HUMAN	cytoplasmic polyadenylation element binding protein 4	194					cellular response to amino acid stimulus (GO:0071230)|cellular response to decreased oxygen levels (GO:0036294)|cellular response to glucose starvation (GO:0042149)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of neuron apoptotic process (GO:0043524)|response to ischemia (GO:0002931)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|postsynaptic density (GO:0014069)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	20	Renal(175;0.000159)|Lung NSC(126;0.0128)|all_lung(126;0.0202)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			TTCACCAGGGAGGGGTCCCTGC	0.505																																						ENST00000265085.5																			0				NS(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	20						c.(577-582)gggggtfs		cytoplasmic polyadenylation element binding protein 4																																				SO:0001589	frameshift_variant	80315						nucleotide binding|RNA binding	g.chr5:173317315_173317316insG	BX538213	CCDS4390.1	5q21	2013-02-12			ENSG00000113742	ENSG00000113742		"RNA binding motif (RRM) containing"	21747	protein-coding gene	gene with protein product		610607				11214970, 12672660	Standard	NM_030627		Approved	KIAA1673	uc003mcs.4	Q17RY0	OTTHUMG00000130541	ENST00000265085.5:c.583dupG	5.37:g.173317319_173317319dupG	ENSP00000265085:p.Gly194fs					CPEB4_ENST00000519835.1_Frame_Shift_Ins_p.GG193fs|CPEB4_ENST00000334035.5_Frame_Shift_Ins_p.GG193fs|CPEB4_ENST00000520867.1_Frame_Shift_Ins_p.GG193fs	p.GG193fs	NM_030627.2	NP_085130.2	Q17RY0	CPEB4_HUMAN	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)		1	2033_2034	+	Renal(175;0.000159)|Lung NSC(126;0.0128)|all_lung(126;0.0202)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	193					B7ZLQ7|Q7Z310|Q8N405|Q9C0J0	Frame_Shift_Ins	INS	ENST00000265085.5	37	c.579_580insG	CCDS4390.1																																																																																				0.505	CPEB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252964.2	NM_030627		15	157						15	157	---	---	---	---	G	173317316	-	G	173317315	7	5	68	1	0	1	1	0	0	0	0	0	3803	291	11	0	581	0	CPEB4	5	173317315	Frame_Shift_Ins	INS	-	TCGA-EJ-5521-01A-01D-1576-08	16417905	173317315	7597945	27	3531											
OR2V2	285659	broad.mit.edu	37	chr5	180582179	180582179	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgttggtctgtaccaatgtGccaaagatggcagccaactt	11	11	10	9	0	1	1	0	0	1	1	1	1	1	1	3	2	4	3	3	2	4	3			TCGA-EJ-5521-01A-01D-1576-08	TCGA-EJ-5521-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71f9ca33-4f59-47fa-98b2-6074451c14a4	6d784e6d-e22b-41f0-9ea2-154445f6fe64	g.chr5:180582179G>A	ENST00000328275.1	+	1	237	c.237G>A	c.(235-237)gtG>gtA	p.V79V		NM_206880.1	NP_996763.1	Q96R30	OR2V2_HUMAN	olfactory receptor, family 2, subfamily V, member 2	79						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V79V(1)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20	all_cancers(89;8.26e-06)|all_epithelial(37;1.02e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684)	all_cancers(40;0.0103)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.0652)|all_lung(500;0.149)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GTACCAATGTGCCAAAGATGG	0.517																																						ENST00000328275.1																			1	Substitution - coding silent(1)	p.V79V(1)	prostate(1)	NS(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						c.(235-237)gtG>gtA		olfactory receptor, family 2, subfamily V, member 2							166	158	161					5																	180582179		2203	4300	6503	SO:0001819	synonymous_variant	285659				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr5:180582179G>A	AL161615	CCDS4461.1	5q35.3	2012-08-09			ENSG00000182613	ENSG00000182613		"GPCR / Class A : Olfactory receptors"	15341	protein-coding gene	gene with protein product				OR2V3			Standard	NM_206880		Approved	OST713	uc011dhj.2	Q96R30	OTTHUMG00000130933	ENST00000328275.1:c.237G>A	5.37:g.180582179G>A							p.V79V	NM_206880.1	NP_996763.1	Q96R30	OR2V2_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		1	237	+	all_cancers(89;8.26e-06)|all_epithelial(37;1.02e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684)	all_cancers(40;0.0103)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.0652)|all_lung(500;0.149)	79					Q6IFL6|Q8NGV1	Silent	SNP	ENST00000328275.1	37	c.237G>A	CCDS4461.1																																																																																				0.517	OR2V2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253529.1			14	245	0	0	0	1	0	14	245					A	180582179	G	A	180582179	2	1	68	1	0	0	0	0	0	0	0	1	11031	1306	46	3		3	OR2V2	5	180582179	Silent	SNP	G	TCGA-EJ-5521-01A-01D-1576-08	7264864	180582179	333081	28	3532											
RXRB	6257	broad.mit.edu	37	chr6	33165658	33165658	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aagagtatgtaaggtctttgCggatggtgcgtttgaagaag	11	12	15	3	2	1	3	0	1	1	2	1	4	1	4	0	3	2	3	0	3	5	4			TCGA-EJ-5521-01A-01D-1576-08	TCGA-EJ-5521-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71f9ca33-4f59-47fa-98b2-6074451c14a4	6d784e6d-e22b-41f0-9ea2-154445f6fe64	g.chr6:33165658C>T	ENST00000374680.3	-	4	912	c.701G>A	c.(700-702)cGc>cAc	p.R234H	RXRB_ENST00000374685.4_Missense_Mutation_p.R234H|RXRB_ENST00000413614.2_Missense_Mutation_p.R138H|SLC39A7_ENST00000374677.3_5'Flank|RXRB_ENST00000544186.1_Missense_Mutation_p.R44H|RNY4P10_ENST00000365571.1_RNA|SLC39A7_ENST00000374675.3_5'Flank	NM_001270401.1|NM_021976.4	NP_001257330.1|NP_068811.1	P28702	RXRB_HUMAN	retinoid X receptor, beta	234					cardiac muscle cell proliferation (GO:0060038)|cellular response to retinoic acid (GO:0071300)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|maternal placenta development (GO:0001893)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription initiation from RNA polymerase II promoter (GO:0006367)|ventricular cardiac muscle cell differentiation (GO:0055012)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	9-cis retinoic acid receptor activity (GO:0004886)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)	p.R234H(1)		endometrium(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(1)|skin(2)	15					Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Bexarotene(DB00307)|Tazarotene(DB00799)|Tretinoin(DB00755)	AAGGTCTTTGCGGATGGTGCG	0.542																																						ENST00000374680.3																			1	Substitution - Missense(1)	p.R234H(1)	prostate(1)	endometrium(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(1)|skin(2)	15						c.(700-702)cGc>cAc		retinoid X receptor, beta	Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Bexarotene(DB00307)|Etretinate(DB00926)|Tazarotene(DB00799)|Tretinoin(DB00755)						85	68	74					6																	33165658		1511	2709	4220	SO:0001583	missense	6257				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	ligand-regulated transcription factor activity|retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding	g.chr6:33165658C>T	M84820	CCDS4768.1, CCDS59007.1	6p21.3	2013-01-16			ENSG00000204231	ENSG00000204231		"Nuclear hormone receptors"	10478	protein-coding gene	gene with protein product	"nuclear receptor subfamily 2 group B member 2"	180246				8257090	Standard	NM_021976		Approved	NR2B2, H-2RIIBP, RCoR-1	uc003odc.4	P28702	OTTHUMG00000031298	ENST00000374680.3:c.701G>A	6.37:g.33165658C>T	ENSP00000363812:p.Arg234His					RXRB_ENST00000374685.4_Missense_Mutation_p.R234H|RXRB_ENST00000413614.2_Missense_Mutation_p.R138H|RXRB_ENST00000544186.1_Missense_Mutation_p.R44H	p.R234H	NM_001270401.1|NM_021976.4	NP_001257330.1|NP_068811.1	P28702	RXRB_HUMAN			4	912	-			234					P28703|Q59G65|Q5JP92|Q5STQ1	Missense_Mutation	SNP	ENST00000374680.3	37	c.701G>A	CCDS4768.1	.	.	.	.	.	.	.	.	.	.	C	28.5	4.929967	0.92389	.	.	ENSG00000204231	ENST00000374685;ENST00000374680;ENST00000544186;ENST00000413614	D;D;D;D	0.97404	-4.37;-4.37;-4.37;-4.37	4.37	4.37	0.52481	Zinc finger, NHR/GATA-type (1);Zinc finger, nuclear hormone receptor-type (4);	0.056585	0.64402	D	0.000002	D	0.98305	0.9438	M	0.86268	2.805	0.58432	D	0.99999	D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D	0.97110	0.994;0.998;0.999;1.0;0.999;0.999;0.998;0.999	D	0.99113	1.0847	10	0.87932	D	0	.	14.8072	0.69965	0.0:1.0:0.0:0.0	.	138;234;117;44;234;234;274;234	B7Z3E4;B7Z6J2;B7Z6X3;E9PK95;Q5STQ1;Q5STP9;Q59G65;P28702	.;.;.;.;.;.;.;RXRB_HUMAN	H	234;234;44;138	ENSP00000363817:R234H;ENSP00000363812:R234H;ENSP00000439222:R44H;ENSP00000415561:R138H	ENSP00000363812:R234H	R	-	2	0	RXRB	33273636	0.994000	0.37717	0.981000	0.43875	0.830000	0.47004	5.882000	0.69714	2.428000	0.82296	0.448000	0.29417	CGC		0.542	RXRB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000076642.2	NM_021976		3	73	0	0	0	1	0	3	73					T	33165658	C	T	33165658	3	4	68	1	0	0	0	0	1	0	0	0	13764	768	27	1	928	1	RXRB	6	33165658	Missense_Mutation	SNP	C	TCGA-EJ-5521-01A-01D-1576-08		33165658	137949409	29	3533											
PPARD	5467	broad.mit.edu	37	chr6	35389697	35389697	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caacaagtgccagtactgccGcttccagaagtgcctggcac	10	7	10	14	1	0	1	0	0	0	1	1	1	1	1	4	1	5	3	4	1	4	2			TCGA-EJ-5521-01A-01D-1576-08	TCGA-EJ-5521-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71f9ca33-4f59-47fa-98b2-6074451c14a4	6d784e6d-e22b-41f0-9ea2-154445f6fe64	g.chr6:35389697G>A	ENST00000311565.4	+	6	735	c.386G>A	c.(385-387)cGc>cAc	p.R129H	PPARD_ENST00000444397.1_Missense_Mutation_p.R129H|PPARD_ENST00000418635.2_Intron|PPARD_ENST00000540939.1_Missense_Mutation_p.R26H|PPARD_ENST00000360694.3_Missense_Mutation_p.R129H|PPARD_ENST00000337400.2_Missense_Mutation_p.R129H|PPARD_ENST00000448077.2_Missense_Mutation_p.R90H	NM_001171818.1	NP_001165289.1	Q03181	PPARD_HUMAN	peroxisome proliferator-activated receptor delta	129					adipose tissue development (GO:0060612)|anagen (GO:0042640)|apoptotic signaling pathway (GO:0097190)|axon ensheathment (GO:0008366)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cell-substrate adhesion (GO:0031589)|cellular response to hypoxia (GO:0071456)|cholesterol metabolic process (GO:0008203)|decidualization (GO:0046697)|embryo implantation (GO:0007566)|fatty acid beta-oxidation (GO:0006635)|fatty acid catabolic process (GO:0009062)|fatty acid transport (GO:0015908)|gene expression (GO:0010467)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glucose transport (GO:0015758)|heart development (GO:0007507)|intracellular receptor signaling pathway (GO:0030522)|keratinocyte migration (GO:0051546)|keratinocyte proliferation (GO:0043616)|lipid metabolic process (GO:0006629)|mRNA transcription (GO:0009299)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of collagen biosynthetic process (GO:0032966)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of inflammatory response (GO:0050728)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of smooth muscle cell proliferation (GO:0048662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|phospholipid biosynthetic process (GO:0008654)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epidermis development (GO:0045684)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of insulin secretion (GO:0032024)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of vasodilation (GO:0045909)|proteoglycan metabolic process (GO:0006029)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to activity (GO:0014823)|response to glucose (GO:0009749)|response to vitamin A (GO:0033189)|transcription initiation from RNA polymerase II promoter (GO:0006367)|vitamin A metabolic process (GO:0006776)|wound healing (GO:0042060)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|drug binding (GO:0008144)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|linoleic acid binding (GO:0070539)|lipid binding (GO:0008289)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)	p.R129H(1)		autonomic_ganglia(1)|breast(1)|endometrium(1)|large_intestine(4)|liver(2)|lung(9)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23					Bezafibrate(DB01393)|Icosapent(DB00159)|Sulindac(DB00605)|Treprostinil(DB00374)	CAGTACTGCCGCTTCCAGAAG	0.572																																						ENST00000311565.4																			1	Substitution - Missense(1)	p.R129H(1)	prostate(1)	autonomic_ganglia(1)|breast(1)|endometrium(1)|large_intestine(4)|liver(2)|lung(9)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23						c.(385-387)cGc>cAc		peroxisome proliferator-activated receptor delta	Icosapent(DB00159)|Sulindac(DB00605)|Treprostinil(DB00374)						68	63	65					6																	35389697		2203	4300	6503	SO:0001583	missense	5467				apoptosis|axon ensheathment|cholesterol metabolic process|decidualization|embryo implantation|fatty acid beta-oxidation|fatty acid transport|generation of precursor metabolites and energy|glucose metabolic process|glucose transport|negative regulation of transcription from RNA polymerase II promoter|positive regulation of fat cell differentiation|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	drug binding|linoleic acid binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	g.chr6:35389697G>A	L07592	CCDS4803.1, CCDS4804.1, CCDS54994.1, CCDS54995.1	6p21.2	2013-01-16	2006-10-17		ENSG00000112033	ENSG00000112033		"Nuclear hormone receptors"	9235	protein-coding gene	gene with protein product		600409	"peroxisome proliferative activated receptor, delta"			1333051	Standard	NM_177435		Approved	NUC1, NUCII, FAAR, NR1C2	uc003okm.3	Q03181	OTTHUMG00000014567	ENST00000311565.4:c.386G>A	6.37:g.35389697G>A	ENSP00000310928:p.Arg129His					PPARD_ENST00000448077.2_Missense_Mutation_p.R90H|PPARD_ENST00000540939.1_Missense_Mutation_p.R26H|PPARD_ENST00000360694.3_Missense_Mutation_p.R129H|PPARD_ENST00000444397.1_Missense_Mutation_p.R129H|PPARD_ENST00000418635.2_Intron|PPARD_ENST00000337400.2_Missense_Mutation_p.R129H	p.R129H	NM_001171818.1	NP_001165289.1	Q03181	PPARD_HUMAN			6	735	+			129					A8K6J6|B4E3V3|B6ZGS1|B7Z3W1|E9PE18|Q5D1P0|Q7Z5K0|Q9BUD4	Missense_Mutation	SNP	ENST00000311565.4	37	c.386G>A	CCDS4803.1	.	.	.	.	.	.	.	.	.	.	G	32	5.191298	0.94923	.	.	ENSG00000112033	ENST00000448077;ENST00000360694;ENST00000444397;ENST00000311565;ENST00000337400;ENST00000540939	D;D;D;D;D;D	0.98585	-5.01;-5.01;-5.01;-5.01;-5.01;-5.01	4.5	4.5	0.54988	Nuclear hormone receptor, ligand-binding (1);Zinc finger, nuclear hormone receptor-type (4);	0.000000	0.85682	D	0.000000	D	0.99551	0.9839	H	0.99689	4.705	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;1.0	D	0.97517	1.0070	10	0.87932	D	0	.	17.3997	0.87456	0.0:0.0:1.0:0.0	.	90;129;129	B7Z3W1;Q03181;F1D8S7	.;PPARD_HUMAN;.	H	90;129;129;129;129;26	ENSP00000414372:R90H;ENSP00000353916:R129H;ENSP00000410837:R129H;ENSP00000310928:R129H;ENSP00000337063:R129H;ENSP00000443759:R26H	ENSP00000310928:R129H	R	+	2	0	PPARD	35497675	1.000000	0.71417	1.000000	0.80357	0.929000	0.56500	9.657000	0.98554	2.325000	0.78763	0.561000	0.74099	CGC		0.572	PPARD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040288.1	NM_006238		9	50	0	0	0	1	0	9	50					A	35389697	G	A	35389697	3	1	68	1	0	0	0	0	1	0	0	0	12298	1087	38	1	413	1	PPARD	6	35389697	Missense_Mutation	SNP	G	TCGA-EJ-5521-01A-01D-1576-08	2224039	35389697	135725370	30	3534											
CDC40	51362	broad.mit.edu	37	chr6	110547378	110547378	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	taaaatttttagggatatccCtgtggatttcaagtacatag	13	15	8	5	0	1	0	1	0	0	0	2	2	2	2	1	2	1	1	1	2	7	8			TCGA-EJ-5521-01A-01D-1576-08	TCGA-EJ-5521-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71f9ca33-4f59-47fa-98b2-6074451c14a4	6d784e6d-e22b-41f0-9ea2-154445f6fe64	g.chr6:110547378C>T	ENST00000368932.1	+	14	1450	c.1349C>T	c.(1348-1350)cCt>cTt	p.P450L	CDC40_ENST00000307731.1_Missense_Mutation_p.P450L|CDC40_ENST00000445340.2_Intron|CDC40_ENST00000368930.1_Missense_Mutation_p.P450L			O60508	PRP17_HUMAN	cell division cycle 40	450					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	catalytic step 2 spliceosome (GO:0071013)|nucleoplasm (GO:0005654)|spliceosomal complex (GO:0005681)	poly(A) RNA binding (GO:0044822)	p.P450L(1)		breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(1)|skin(1)	18		all_cancers(87;6.23e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00159)|Colorectal(196;0.0488)		Epithelial(106;0.0221)|all cancers(137;0.0314)|OV - Ovarian serous cystadenocarcinoma(136;0.034)		AGGGATATCCCTGTGGATTTC	0.323																																						ENST00000368932.1																			1	Substitution - Missense(1)	p.P450L(1)	prostate(1)	breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(1)|skin(1)	18						c.(1348-1350)cCt>cTt		cell division cycle 40							78	76	77					6																	110547378		2203	4300	6503	SO:0001583	missense	51362				mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|nucleoplasm		g.chr6:110547378C>T	AF015044	CCDS5081.1	6q22.1	2013-01-17	2013-01-17		ENSG00000168438	ENSG00000168438		"WD repeat domain containing"	17350	protein-coding gene	gene with protein product		605585	"cell division cycle 40 homolog (yeast)", "cell division cycle 40 homolog (S. cerevisiae)"			9769104, 9830021	Standard	NM_015891		Approved	PRP17, EHB3, PRPF17, FLJ10564	uc003pua.3	O60508	OTTHUMG00000015358	ENST00000368932.1:c.1349C>T	6.37:g.110547378C>T	ENSP00000357928:p.Pro450Leu					CDC40_ENST00000307731.1_Missense_Mutation_p.P450L|CDC40_ENST00000368930.1_Missense_Mutation_p.P450L|CDC40_ENST00000368933.1_Missense_Mutation_p.P450L|CDC40_ENST00000445340.2_Intron	p.P450L			O60508	PRP17_HUMAN		Epithelial(106;0.0221)|all cancers(137;0.0314)|OV - Ovarian serous cystadenocarcinoma(136;0.034)	14	1450	+		all_cancers(87;6.23e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00159)|Colorectal(196;0.0488)	450					B2RBC5|O75471|Q5SRN0|Q9UPG1	Missense_Mutation	SNP	ENST00000368932.1	37	c.1349C>T	CCDS5081.1	.	.	.	.	.	.	.	.	.	.	C	31	5.082886	0.94050	.	.	ENSG00000168438	ENST00000368932;ENST00000368933;ENST00000368930;ENST00000307731	T;T;T;T	0.80480	-1.38;-1.38;-1.38;-1.38	5.99	5.99	0.97316	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.91643	0.7359	M	0.92833	3.35	0.80722	D	1	D	0.69078	0.997	D	0.67382	0.951	D	0.92192	0.5760	10	0.66056	D	0.02	-8.6595	20.4777	0.99188	0.0:1.0:0.0:0.0	.	450	O60508	PRP17_HUMAN	L	450	ENSP00000357928:P450L;ENSP00000357929:P450L;ENSP00000357926:P450L;ENSP00000304370:P450L	ENSP00000304370:P450L	P	+	2	0	CDC40	110654071	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	7.487000	0.81328	2.840000	0.97914	0.655000	0.94253	CCT		0.323	CDC40-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041791.1	NM_015891		25	88	0	0	0	1	0	25	88					T	110547378	C	T	110547378	3	4	68	1	0	0	0	0	1	0	0	0	3070	681	24	3	1399	3	CDC40	6	110547378	Missense_Mutation	SNP	C	TCGA-EJ-5521-01A-01D-1576-08	75157681	110547378	60567689	31	3535											
TMEM195	392636	broad.mit.edu	37	chr7	15458194	15458194	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagttttacctctgtatggaTccaaaattggtaaagaagat	15	13	8	5	0	1	2	0	0	1	2	2	3	2	3	2	2	1	3	2	2	8	5	rs146442781	byFrequency	TCGA-EJ-5521-01A-01D-1576-08	TCGA-EJ-5521-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71f9ca33-4f59-47fa-98b2-6074451c14a4	6d784e6d-e22b-41f0-9ea2-154445f6fe64	g.chr7:15458194T>C	ENST00000342526.3	-	5	767	c.598A>G	c.(598-600)Atc>Gtc	p.I200V		NM_001004320.1	NP_001004320.1	Q6ZNB7	ALKMO_HUMAN	alkylglycerol monooxygenase	200					ether lipid metabolic process (GO:0046485)|fatty acid biosynthetic process (GO:0006633)|membrane lipid metabolic process (GO:0006643)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glyceryl-ether monooxygenase activity (GO:0050479)|iron ion binding (GO:0005506)	p.I200V(1)		breast(1)|kidney(1)|large_intestine(6)|liver(1)|lung(30)|prostate(1)|skin(2)	42						TCTGTATGGATCCAAAATTGG	0.348																																						ENST00000342526.3																			1	Substitution - Missense(1)	p.I200V(1)	prostate(1)	breast(1)|kidney(1)|large_intestine(6)|liver(1)|lung(30)|prostate(1)|skin(2)	42						c.(598-600)Atc>Gtc		alkylglycerol monooxygenase							35	42	40					7																	15458194		2200	4287	6487	SO:0001583	missense	392636				ether lipid metabolic process|fatty acid biosynthetic process|membrane lipid metabolic process	endoplasmic reticulum membrane|integral to membrane	glyceryl-ether monooxygenase activity|iron ion binding	g.chr7:15458194T>C		CCDS34604.1	7p21.1	2013-03-04	2011-01-31	2011-01-31	ENSG00000187546	ENSG00000187546	1.14.16.5	"Fatty acid hydroxylase domain containing"	33784	protein-coding gene	gene with protein product		613738	"transmembrane protein 195"	TMEM195		20643956	Standard	NM_001004320		Approved	FLJ16237	uc003stb.1	Q6ZNB7	OTTHUMG00000152387	ENST00000342526.3:c.598A>G	7.37:g.15458194T>C	ENSP00000341662:p.Ile200Val						p.I200V	NM_001004320.1	NP_001004320.1	Q6ZNB7	ALKMO_HUMAN			5	767	-			200					A4D114|A6NCH5	Missense_Mutation	SNP	ENST00000342526.3	37	c.598A>G	CCDS34604.1	.	.	.	.	.	.	.	.	.	.	T	20.8	4.047454	0.75846	.	.	ENSG00000187546	ENST00000342526	D	0.83992	-1.79	5.8	5.8	0.92144	Fatty acid hydroxylase (1);	0.000000	0.85682	D	0.000000	T	0.81908	0.4922	L	0.37697	1.125	0.54753	D	0.999983	P	0.46064	0.872	P	0.51777	0.679	T	0.77734	-0.2477	10	0.11182	T	0.66	-30.639	16.1416	0.81528	0.0:0.0:0.0:1.0	.	200	Q6ZNB7	ALKMO_HUMAN	V	200	ENSP00000341662:I200V	ENSP00000341662:I200V	I	-	1	0	AGMO	15424719	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	5.600000	0.67599	2.209000	0.71365	0.482000	0.46254	ATC		0.348	AGMO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326049.2	NM_001004320		19	38	0	0	0	1	0	19	38					C	15458194	T	C	15458194	3	2	68	1	0	0	0	0	1	0	0	0	16114	1435	50	4	775	4	TMEM195	7	15458194	Missense_Mutation	SNP	T	TCGA-EJ-5521-01A-01D-1576-08		15458194	143680469	32	3536											
TPST1	8460	broad.mit.edu	37	chr7	65751577	65751577	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gggttgggaagataccgccaGatgttttacaagacatggca	12	9	13	7	1	0	3	0	0	0	3	0	4	0	4	2	3	2	3	2	3	4	4	rs142506783		TCGA-EJ-5521-01A-01D-1576-08	TCGA-EJ-5521-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71f9ca33-4f59-47fa-98b2-6074451c14a4	6d784e6d-e22b-41f0-9ea2-154445f6fe64	g.chr7:65751577G>A	ENST00000304842.5	+	3	1350	c.925G>A	c.(925-927)Gat>Aat	p.D309N	TPST1_ENST00000480281.1_3'UTR	NM_003596.3	NP_003587.1	O60507	TPST1_HUMAN	tyrosylprotein sulfotransferase 1	309					inflammatory response (GO:0006954)|peptidyl-tyrosine sulfation (GO:0006478)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	protein-tyrosine sulfotransferase activity (GO:0008476)	p.D309N(1)		NS(1)|biliary_tract(1)|breast(1)|kidney(3)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	11						GATACCGCCAGATGTTTTACA	0.428																																						ENST00000304842.5																			1	Substitution - Missense(1)	p.D309N(1)	prostate(1)	NS(1)|biliary_tract(1)|breast(1)|kidney(3)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	11						c.(925-927)Gat>Aat		tyrosylprotein sulfotransferase 1		G	ASN/ASP	1,4405	2.1+/-5.4	0,1,2202	145	127	133		925	4.7	1	7	dbSNP_134	133	0,8600		0,0,4300	no	missense	TPST1	NM_003596.3	23	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	possibly-damaging	309/371	65751577	1,13005	2203	4300	6503	SO:0001583	missense	8460				inflammatory response|peptidyl-tyrosine sulfation	Golgi membrane|integral to membrane|membrane fraction	protein-tyrosine sulfotransferase activity	g.chr7:65751577G>A	AF038009	CCDS5533.1	7q11.21	2012-12-13			ENSG00000169902	ENSG00000169902	2.8.2.20	"Sulfotransferases, membrane-bound"	12020	protein-coding gene	gene with protein product	"transport and golgi organization 13 homolog A (Drosophila)"	603125				9501187	Standard	NM_003596		Approved	TANGO13A	uc003tuw.3	O60507	OTTHUMG00000023871	ENST00000304842.5:c.925G>A	7.37:g.65751577G>A	ENSP00000302413:p.Asp309Asn					TPST1_ENST00000480281.1_3'UTR	p.D309N	NM_003596.3	NP_003587.1	O60507	TPST1_HUMAN			3	1350	+			309					A4D2M0|Q6FGM7	Missense_Mutation	SNP	ENST00000304842.5	37	c.925G>A	CCDS5533.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.070780	0.76301	2.27E-4	0.0	ENSG00000169902	ENST00000304842;ENST00000544114	T	0.44881	0.91	5.56	4.68	0.58851	.	0.000000	0.85682	D	0.000000	T	0.59362	0.2188	M	0.82630	2.6	0.80722	D	1	P;P	0.52061	0.95;0.916	P;P	0.53450	0.726;0.536	T	0.66376	-0.5939	10	0.66056	D	0.02	-19.0377	13.3784	0.60752	0.0761:0.0:0.9238:0.0	.	309;309	F5H7U7;O60507	.;TPST1_HUMAN	N	309	ENSP00000302413:D309N	ENSP00000302413:D309N	D	+	1	0	TPST1	65389012	1.000000	0.71417	0.952000	0.39060	0.926000	0.56050	6.931000	0.75863	1.348000	0.45733	0.467000	0.42956	GAT		0.428	TPST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251705.2	NM_003596		9	106	0	0	0	1	0	9	106					A	65751577	G	A	65751577	3	1	68	1	0	0	0	0	1	0	0	0	16424	942	33	3	931	3	TPST1	7	65751577	Missense_Mutation	SNP	G	TCGA-EJ-5521-01A-01D-1576-08	50293383	65751577	93387086	33	3537											
PHTF2	57157	broad.mit.edu	37	chr7	77567152	77567152	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atcagtggaatgataatgaaCagagtgagtttttaaatttt	15	15	9	2	0	1	4	1	3	0	1	1	5	1	5	0	1	1	1	0	1	5	6			TCGA-EJ-5521-01A-01D-1576-08	TCGA-EJ-5521-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71f9ca33-4f59-47fa-98b2-6074451c14a4	6d784e6d-e22b-41f0-9ea2-154445f6fe64	g.chr7:77567152C>T	ENST00000248550.7	+	12	1540	c.1464C>T	c.(1462-1464)aaC>aaT	p.N488N	PHTF2_ENST00000424760.1_Silent_p.N450N|PHTF2_ENST00000454592.1_3'UTR|PHTF2_ENST00000307305.8_Silent_p.N450N|PHTF2_ENST00000275575.7_Silent_p.N450N|PHTF2_ENST00000416283.2_Silent_p.N454N|PHTF2_ENST00000422959.2_Silent_p.N454N			Q8N3S3	PHTF2_HUMAN	putative homeodomain transcription factor 2	488					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(2)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)	19						TGATAATGAACAGAGTGAGTT	0.308																																						ENST00000416283.2																			0				endometrium(2)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)	19						c.(1360-1362)aaC>aaT		putative homeodomain transcription factor 2							58	55	56					7																	77567152		1804	4066	5870	SO:0001819	synonymous_variant	57157				regulation of transcription, DNA-dependent|transcription, DNA-dependent	endoplasmic reticulum|nucleus	DNA binding	g.chr7:77567152C>T	AL136883	CCDS47621.1, CCDS47622.1, CCDS47623.1, CCDS47624.1	7q11.23-q21	2008-02-01			ENSG00000006576	ENSG00000006576			13411	protein-coding gene	gene with protein product						10729229	Standard	NM_020432		Approved	DKFZp434D166	uc003ugq.4	Q8N3S3	OTTHUMG00000155557	ENST00000248550.7:c.1464C>T	7.37:g.77567152C>T						PHTF2_ENST00000422959.2_Silent_p.N454N|PHTF2_ENST00000275575.7_Silent_p.N450N|PHTF2_ENST00000424760.1_Silent_p.N450N|PHTF2_ENST00000248550.7_Silent_p.N488N|PHTF2_ENST00000454592.1_3'UTR|PHTF2_ENST00000307305.8_Silent_p.N450N	p.N454N	NM_001127357.1|NM_020432.4	NP_001120829.1|NP_065165.3	Q8N3S3	PHTF2_HUMAN			11	1488	+			488					A0JP04|A0JP05|A4D1C2|E9PEE3|G5E9H7|Q6NW35|Q8TBW4|Q9H099	Silent	SNP	ENST00000248550.7	37	c.1362C>T																																																																																					0.308	PHTF2-006	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000340638.2	NM_020432		6	55	0	0	0	1	0	6	55					T	77567152	C	T	77567152	2	4	68	1	0	0	0	0	0	0	0	1	11863	477	17	3		3	PHTF2	7	77567152	Silent	SNP	C	TCGA-EJ-5521-01A-01D-1576-08	11815575	77567152	81571511	34	3538											
MKRN1	23608	broad.mit.edu	37	chr7	140158897	140158897	+	Frame_Shift_Del	DEL	G	G	-																															tctccgtggagatacacacaGttctccccgtatcggcactc																										TCGA-EJ-5521-01A-01D-1576-08	TCGA-EJ-5521-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71f9ca33-4f59-47fa-98b2-6074451c14a4	6d784e6d-e22b-41f0-9ea2-154445f6fe64	g.chr7:140158897delG	ENST00000255977.2	-	4	905	c.681delC	c.(679-681)aacfs	p.N227fs	MKRN1_ENST00000474576.1_Frame_Shift_Del_p.N163fs|MKRN1_ENST00000480552.1_Intron|MKRN1_ENST00000443720.2_Frame_Shift_Del_p.N227fs|MKRN1_ENST00000437223.2_Intron|MKRN1_ENST00000481705.1_5'Flank	NM_013446.3	NP_038474.2	Q9UHC7	MKRN1_HUMAN	makorin ring finger protein 1	227					protein polyubiquitination (GO:0000209)		chromatin binding (GO:0003682)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	16	Melanoma(164;0.00956)					GATACACACAGTTCTCCCCGT	0.522																																						ENST00000255977.2																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	16						c.(679-681)aafs		makorin ring finger protein 1							134	129	131					7																	140158897		2203	4300	6503	SO:0001589	frameshift_variant	23608						ligase activity|nucleic acid binding|protein binding|zinc ion binding	g.chr7:140158897delG	AF192784	CCDS5860.1, CCDS47725.1	7q34	2013-01-09	2008-08-13		ENSG00000133606	ENSG00000133606		"RING-type (C3HC4) zinc fingers"	7112	protein-coding gene	gene with protein product		607754				10843807	Standard	NM_013446		Approved	RNF61	uc003vvt.2	Q9UHC7	OTTHUMG00000157412	ENST00000255977.2:c.681delC	7.37:g.140158897delG	ENSP00000255977:p.Asn227fs					MKRN1_ENST00000480552.1_Intron|MKRN1_ENST00000474576.1_Frame_Shift_Del_p.N163fs|MKRN1_ENST00000443720.2_Frame_Shift_Del_p.N227fs|MKRN1_ENST00000437223.2_Intron	p.N227fs	NM_013446.3	NP_038474.2	Q9UHC7	MKRN1_HUMAN			4	905	-	Melanoma(164;0.00956)		227					A4D1T7|B3KXB4|Q256Y7|Q59G11|Q6GSF1|Q9H0G0|Q9UEZ7|Q9UHW2	Frame_Shift_Del	DEL	ENST00000255977.2	37	c.681delC	CCDS5860.1																																																																																				0.522	MKRN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348752.1	NM_013446		19	233						19	233	---	---	---	---	-	140158897	G	-	140158897	7	5	68	1	0	1	0	1	0	0	0	0	9606	1020	36	0	791	0	MKRN1	7	140158897	Frame_Shift_Del	DEL	G	TCGA-EJ-5521-01A-01D-1576-08	62591745	140158897	18979766	35	3539											
ERMP1	79956	broad.mit.edu	37	chr9	5798848	5798848	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gataccaaggaaaaccacaaAgaggtgcattctcctcacag	16	6	8	11	0	2	1	1	0	1	1	3	3	2	2	3	2	3	1	3	2	5	2			TCGA-EJ-5521-01A-01D-1576-08	TCGA-EJ-5521-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71f9ca33-4f59-47fa-98b2-6074451c14a4	6d784e6d-e22b-41f0-9ea2-154445f6fe64	g.chr9:5798848A>C	ENST00000339450.5	-	12	2317	c.2228T>G	c.(2227-2229)cTt>cGt	p.L743R	ERMP1_ENST00000214893.5_5'UTR|ERMP1_ENST00000381506.3_3'UTR|ERMP1_ENST00000543230.1_Missense_Mutation_p.L321R	NM_024896.2	NP_079172.2	Q7Z2K6	ERMP1_HUMAN	endoplasmic reticulum metallopeptidase 1	743						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)	p.L743R(1)		endometrium(2)|kidney(1)|large_intestine(9)|lung(4)|ovary(1)|prostate(2)|skin(1)	20		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00115)|Lung(218;0.111)		AAAACCACAAAGAGGTGCATT	0.403																																						ENST00000339450.5																			1	Substitution - Missense(1)	p.L743R(1)	prostate(1)	endometrium(2)|kidney(1)|large_intestine(9)|lung(4)|ovary(1)|prostate(2)|skin(1)	20						c.(2227-2229)cTt>cGt		endoplasmic reticulum metallopeptidase 1							129	122	124					9																	5798848		2203	4300	6503	SO:0001583	missense	79956				proteolysis	endoplasmic reticulum membrane|integral to membrane	metal ion binding|metallopeptidase activity	g.chr9:5798848A>C	AB058718	CCDS34983.1	9p24	2008-02-05	2007-07-05	2007-07-05	ENSG00000099219	ENSG00000099219			23703	protein-coding gene	gene with protein product	"Felix-ina"	611156	"KIAA1815"	KIAA1815		11347906	Standard	XM_005251587		Approved	FLJ23309, FXNA	uc003zjm.1	Q7Z2K6	OTTHUMG00000019508	ENST00000339450.5:c.2228T>G	9.37:g.5798848A>C	ENSP00000340427:p.Leu743Arg					ERMP1_ENST00000214893.5_5'UTR|ERMP1_ENST00000543230.1_Missense_Mutation_p.L321R|ERMP1_ENST00000381506.3_3'UTR	p.L743R	NM_024896.2	NP_079172.2	Q7Z2K6	ERMP1_HUMAN		GBM - Glioblastoma multiforme(50;0.00115)|Lung(218;0.111)	12	2317	-		Acute lymphoblastic leukemia(23;0.158)	743					B2RNA4|B3KSB1|Q8N5T5|Q9H5M1	Missense_Mutation	SNP	ENST00000339450.5	37	c.2228T>G	CCDS34983.1	.	.	.	.	.	.	.	.	.	.	A	18.96	3.733830	0.69189	.	.	ENSG00000099219	ENST00000339450;ENST00000543230	T;T	0.24151	1.87;1.87	5.59	5.59	0.84812	.	0.213634	0.49916	D	0.000126	T	0.31888	0.0811	L	0.36672	1.1	0.80722	D	1	D	0.63880	0.993	P	0.51615	0.675	T	0.01951	-1.1241	10	0.39692	T	0.17	-13.1757	15.7672	0.78135	1.0:0.0:0.0:0.0	.	743	Q7Z2K6	ERMP1_HUMAN	R	743;321	ENSP00000340427:L743R;ENSP00000439368:L321R	ENSP00000340427:L743R	L	-	2	0	ERMP1	5788848	1.000000	0.71417	0.650000	0.29550	0.951000	0.60555	5.555000	0.67301	2.123000	0.65237	0.383000	0.25322	CTT		0.403	ERMP1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354877.1	NM_024896		5	72	0	0	0	1	0	5	72					C	5798848	A	C	5798848	3	2	68	1	0	0	0	0	1	0	0	0	5236	72	3	5	502	5	ERMP1	9	5798848	Missense_Mutation	SNP	A	TCGA-EJ-5521-01A-01D-1576-08		5798848	135414583	36	3540											
PRKACG	5568	broad.mit.edu	37	chr9	71628979	71628979	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttcacgctctcctcctgctcGgtgtccttcttggcgggggc	1	13	12	15	3	3	0	1	0	2	0	7	0	5	0	3	4	1	2	3	4	0	3	rs541637720	byFrequency	TCGA-EJ-5521-01A-01D-1576-08	TCGA-EJ-5521-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71f9ca33-4f59-47fa-98b2-6074451c14a4	6d784e6d-e22b-41f0-9ea2-154445f6fe64	g.chr9:71628979G>A	ENST00000377276.2	-	1	60	c.30C>T	c.(28-30)acC>acT	p.T10T		NM_002732.3	NP_002723.2	P22612	KAPCG_HUMAN	protein kinase, cAMP-dependent, catalytic, gamma	10					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|blood coagulation (GO:0007596)|carbohydrate metabolic process (GO:0005975)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|male gonad development (GO:0008584)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)|transmembrane transport (GO:0055085)|triglyceride catabolic process (GO:0019433)|water transport (GO:0006833)	cytosol (GO:0005829)	ATP binding (GO:0005524)|cAMP-dependent protein kinase activity (GO:0004691)	p.T10T(1)		central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	22						CCTCCTGCTCGGTGTCCTTCT	0.692																																					Esophageal Squamous(110;2236 2623 32146)	ENST00000377276.2																			1	Substitution - coding silent(1)	p.T10T(1)	prostate(1)	central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	22						c.(28-30)acC>acT		protein kinase, cAMP-dependent, catalytic, gamma							37	39	38					9																	71628979		2203	4300	6503	SO:0001819	synonymous_variant	5568				activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|gluconeogenesis|intracellular protein kinase cascade|male gonad development|nerve growth factor receptor signaling pathway|regulation of insulin secretion|spermatogenesis|transmembrane transport|triglyceride catabolic process|water transport	cytosol|nucleoplasm	ATP binding|cAMP-dependent protein kinase activity	g.chr9:71628979G>A	M34182	CCDS6625.1	9q13	2012-10-02			ENSG00000165059	ENSG00000165059	2.7.11.1		9382	protein-coding gene	gene with protein product		176893				2342480, 9598317	Standard	NM_002732		Approved	PKACg	uc004agy.3	P22612	OTTHUMG00000019974	ENST00000377276.2:c.30C>T	9.37:g.71628979G>A							p.T10T	NM_002732.3	NP_002723.2	P22612	KAPCG_HUMAN			1	60	-			10					O60850|Q5VZ02|Q86YI1	Silent	SNP	ENST00000377276.2	37	c.30C>T	CCDS6625.1																																																																																				0.692	PRKACG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052559.1			5	44	0	0	0	1	0	5	44					A	71628979	G	A	71628979	2	1	68	1	0	0	0	0	0	0	0	1	12499	1103	39	2		2	PRKACG	9	71628979	Silent	SNP	G	TCGA-EJ-5521-01A-01D-1576-08	65830131	71628979	69584452	37	3541											
TAL2	6887	broad.mit.edu	37	chr9	108424812	108424812	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cttcacaaataccagggagcGgtggaggcagcagaatgtca	13	6	13	9	1	2	1	2	0	0	1	2	3	2	3	1	4	3	2	1	4	3	2	rs183751696		TCGA-EJ-5521-01A-01D-1576-08	TCGA-EJ-5521-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71f9ca33-4f59-47fa-98b2-6074451c14a4	6d784e6d-e22b-41f0-9ea2-154445f6fe64	g.chr9:108424812G>C	ENST00000334077.3	+	1	75	c.35G>C	c.(34-36)cGg>cCg	p.R12P		NM_005421.2	NP_005412.1	Q16559	TAL2_HUMAN	T-cell acute lymphocytic leukemia 2	12	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				midbrain development (GO:0030901)|multicellular organism growth (GO:0035264)|post-embryonic development (GO:0009791)|regulation of transcription, DNA-templated (GO:0006355)|thalamus development (GO:0021794)|transcription, DNA-templated (GO:0006351)		DNA binding (GO:0003677)	p.R12P(1)									ACCAGGGAGCGGTGGAGGCAG	0.502			T	TRB@	T-ALL																																	ENST00000334077.3				Dom	yes		9	9q31	6887	T	T-cell acute lymphocytic leukemia 2			L	TRB@		T-ALL		1	Substitution - Missense(1)	p.R12P(1)	prostate(1)								c.(34-36)cGg>cCg		T-cell acute lymphocytic leukemia 2							70	67	68					9																	108424812		2203	4300	6503	SO:0001583	missense	6887				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr9:108424812G>C		CCDS6767.1	9q32	2013-05-21			ENSG00000186051	ENSG00000186051		"Basic helix-loop-helix proteins"	11557	protein-coding gene	gene with protein product		186855				1763056	Standard	NM_005421		Approved	bHLHa19	uc004bct.3	Q16559	OTTHUMG00000020424	ENST00000334077.3:c.35G>C	9.37:g.108424812G>C	ENSP00000334547:p.Arg12Pro						p.R12P	NM_005421.2	NP_005412.1	Q16559	TAL2_HUMAN			1	75	+			12					A0AVI7	Missense_Mutation	SNP	ENST00000334077.3	37	c.35G>C	CCDS6767.1	.	.	.	.	.	.	.	.	.	.	G	33	5.236416	0.95240	.	.	ENSG00000186051	ENST00000334077	D	0.99089	-5.41	5.67	5.67	0.87782	Helix-loop-helix DNA-binding (5);	0.000000	0.85682	D	0.000000	D	0.99625	0.9863	H	0.98155	4.16	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97772	1.0227	10	0.87932	D	0	-18.6693	19.1191	0.93355	0.0:0.0:1.0:0.0	.	12	Q16559	TAL2_HUMAN	P	12	ENSP00000334547:R12P	ENSP00000334547:R12P	R	+	2	0	TAL2	107464633	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.695000	0.98691	2.837000	0.97791	0.655000	0.94253	CGG		0.502	TAL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053504.1	NM_005421		13	63	0	0	0	1	0	13	63					C	108424812	G	C	108424812	3	2	68	1	0	0	0	0	1	0	0	0	15539	1116	39	5	37	5	TAL2	9	108424812	Missense_Mutation	SNP	G	TCGA-EJ-5521-01A-01D-1576-08	36795833	108424812	32788619	38	3542											
ST6GALNAC6	30815	broad.mit.edu	37	chr9	130653032	130653032	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gctcgctggatcacacgcacGaggctgccctggggcttctg	5	8	14	14	3	2	0	1	0	1	0	3	2	2	1	1	4	1	5	1	4	0	1	rs140405426		TCGA-EJ-5521-01A-01D-1576-08	TCGA-EJ-5521-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71f9ca33-4f59-47fa-98b2-6074451c14a4	6d784e6d-e22b-41f0-9ea2-154445f6fe64	g.chr9:130653032G>A	ENST00000373146.1	-	5	767	c.588C>T	c.(586-588)ctC>ctT	p.L196L	ST6GALNAC6_ENST00000291839.5_Silent_p.L196L|ST6GALNAC6_ENST00000373144.3_Silent_p.L162L|ST6GALNAC6_ENST00000373142.1_Silent_p.L196L|ST6GALNAC6_ENST00000485320.1_5'UTR|ST6GALNAC6_ENST00000373141.1_Silent_p.L162L|ST6GALNAC6_ENST00000542456.1_Intron			Q969X2	SIA7F_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 6	196					cell-cell recognition (GO:0009988)|ganglioside biosynthetic process (GO:0001574)|glycoprotein metabolic process (GO:0009100)|glycosphingolipid metabolic process (GO:0006687)|glycosylceramide metabolic process (GO:0006677)|oligosaccharide biosynthetic process (GO:0009312)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase activity (GO:0001665)|sialyltransferase activity (GO:0008373)	p.L196L(1)		endometrium(3)|large_intestine(3)|lung(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						TCACACGCACGAGGCTGCCCT	0.637																																						ENST00000373146.1																			1	Substitution - coding silent(1)	p.L196L(1)	prostate(1)	endometrium(3)|large_intestine(3)|lung(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						c.(586-588)ctC>ctT		ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 6		G		2,4404	4.2+/-10.8	0,2,2201	49	54	52		588	-11.2	0.2	9	dbSNP_134	52	0,8600		0,0,4300	no	coding-synonymous	ST6GALNAC6	NM_013443.3		0,2,6501	AA,AG,GG		0.0,0.0454,0.0154		196/334	130653032	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	30815				protein glycosylation	integral to Golgi membrane|plasma membrane		g.chr9:130653032G>A	BC006564	CCDS6882.1, CCDS69668.1, CCDS69669.1, CCDS75908.1	9q34.13	2013-03-01		2005-02-07	ENSG00000160408	ENSG00000160408		"Sialyltransferases"	23364	protein-coding gene	gene with protein product		610135	"sialytransferase 7 ((alpha-N-acetylneuraminyl 2,3-betagalactosyl-1,3)-N-acetyl galactosaminide alpha-2,6-sialytransferase) F"	SIAT7F		12668675	Standard	XM_005251952		Approved	ST6GALNACVI	uc004bso.1	Q969X2	OTTHUMG00000020718	ENST00000373146.1:c.588C>T	9.37:g.130653032G>A						ST6GALNAC6_ENST00000291839.5_Silent_p.L196L|ST6GALNAC6_ENST00000373141.1_Silent_p.L162L|ST6GALNAC6_ENST00000542456.1_Intron|ST6GALNAC6_ENST00000373142.1_Silent_p.L196L|ST6GALNAC6_ENST00000373144.3_Silent_p.L162L|ST6GALNAC6_ENST00000485320.1_5'UTR	p.L196L			Q969X2	SIA7F_HUMAN			5	767	-			196					B3KQ01|Q5T9C4|Q5T9C5|Q9H8A2|Q9ULB8	Silent	SNP	ENST00000373146.1	37	c.588C>T	CCDS6882.1																																																																																				0.637	ST6GALNAC6-007	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054278.1	NM_013443		9	75	0	0	0	1	0	9	75					A	130653032	G	A	130653032	2	1	68	1	0	0	0	0	0	0	0	1	15227	1045	37	2		2	ST6GALNAC6	9	130653032	Silent	SNP	G	TCGA-EJ-5521-01A-01D-1576-08	22228220	130653032	10560399	39	3543											
GOT1	2805	broad.mit.edu	37	chr10	101163490	101163490	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agagcactcactgtagagccCgaagttcttggagaaggact	12	8	12	9	1	2	3	1	0	1	3	2	6	2	4	1	2	2	3	1	2	3	3			TCGA-EJ-5521-01A-01D-1576-08	TCGA-EJ-5521-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71f9ca33-4f59-47fa-98b2-6074451c14a4	6d784e6d-e22b-41f0-9ea2-154445f6fe64	g.chr10:101163490C>A	ENST00000370508.5	-	6	811	c.784G>T	c.(784-786)Ggg>Tgg	p.G262W	GOT1_ENST00000543866.1_Missense_Mutation_p.G241W	NM_002079.2	NP_002070.1	P17174	AATC_HUMAN	glutamic-oxaloacetic transaminase 1, soluble	262					2-oxoglutarate metabolic process (GO:0006103)|aspartate biosynthetic process (GO:0006532)|aspartate catabolic process (GO:0006533)|aspartate metabolic process (GO:0006531)|carbohydrate metabolic process (GO:0005975)|cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to insulin stimulus (GO:0032869)|fatty acid homeostasis (GO:0055089)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glutamate catabolic process to 2-oxoglutarate (GO:0019551)|glutamate catabolic process to aspartate (GO:0019550)|glutamate metabolic process (GO:0006536)|glycerol biosynthetic process (GO:0006114)|L-methionine biosynthetic process from methylthioadenosine (GO:0019509)|oxaloacetate metabolic process (GO:0006107)|polyamine metabolic process (GO:0006595)|response to glucocorticoid (GO:0051384)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)	axon terminus (GO:0043679)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|nucleus (GO:0005634)	carboxylic acid binding (GO:0031406)|L-aspartate:2-oxoglutarate aminotransferase activity (GO:0004069)|L-cysteine:2-oxoglutarate aminotransferase activity (GO:0047801)|L-phenylalanine:2-oxoglutarate aminotransferase activity (GO:0080130)|phosphatidylserine decarboxylase activity (GO:0004609)|pyridoxal phosphate binding (GO:0030170)|transaminase activity (GO:0008483)	p.G262W(2)		endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|prostate(2)	16		Ovarian(717;0.028)|Colorectal(252;0.234)		Epithelial(162;4.76e-10)|all cancers(201;3.84e-08)	L-Aspartic Acid(DB00128)|L-Cysteine(DB00151)	CTGTAGAGCCCGAAGTTCTTG	0.537																																					Melanoma(173;770 3544 21601)	ENST00000370508.5																			2	Substitution - Missense(2)	p.G262W(2)	prostate(1)|lung(1)	endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|prostate(2)	16						c.(784-786)Ggg>Tgg		glutamic-oxaloacetic transaminase 1, soluble	L-Aspartic Acid(DB00128)|L-Cysteine(DB00151)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)						81	78	79					10																	101163490		2203	4300	6503	SO:0001583	missense	2805				aspartate catabolic process|cellular response to insulin stimulus|gluconeogenesis|response to glucocorticoid stimulus	cytosol	L-aspartate:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding	g.chr10:101163490C>A	M37400	CCDS7479.1	10q24.1-q25.1	2013-05-29	2013-05-29		ENSG00000120053	ENSG00000120053	2.6.1.1		4432	protein-coding gene	gene with protein product	"aspartate aminotransferase 1", "aspartate transaminase 1"	138180	"glutamic-oxaloacetic transaminase 1, soluble (aspartate aminotransferase 1)"			1974457	Standard	NM_002079		Approved		uc001kpr.3	P17174	OTTHUMG00000018882	ENST00000370508.5:c.784G>T	10.37:g.101163490C>A	ENSP00000359539:p.Gly262Trp					GOT1_ENST00000543866.1_Missense_Mutation_p.G241W	p.G262W	NM_002079.2	NP_002070.1	P17174	AATC_HUMAN		Epithelial(162;4.76e-10)|all cancers(201;3.84e-08)	6	811	-		Ovarian(717;0.028)|Colorectal(252;0.234)	262					B2R6R7|B7Z7E9|Q5VW80	Missense_Mutation	SNP	ENST00000370508.5	37	c.784G>T	CCDS7479.1	.	.	.	.	.	.	.	.	.	.	C	26.2	4.710865	0.89112	.	.	ENSG00000120053	ENST00000370508;ENST00000535447;ENST00000543866	D;D	0.95756	-3.8;-3.8	5.3	5.3	0.74995	Aminotransferase, class I/classII (1);Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.096735	0.64402	D	0.000001	D	0.98720	0.9570	H	0.97587	4.035	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99497	1.0952	10	0.87932	D	0	-10.0104	19.3592	0.94428	0.0:1.0:0.0:0.0	.	262	P17174	AATC_HUMAN	W	262;215;241	ENSP00000359539:G262W;ENSP00000445578:G241W	ENSP00000359539:G262W	G	-	1	0	GOT1	101153480	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.776000	0.85560	2.647000	0.89833	0.558000	0.71614	GGG		0.537	GOT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049794.1	NM_002079		3	111	1	0	0.115264	1	0.118219	3	111					A	101163490	C	A	101163490	3	1	68	1	0	0	0	0	1	0	0	0	6579	652	23	5	473	5	GOT1	10	101163490	Missense_Mutation	SNP	C	TCGA-EJ-5521-01A-01D-1576-08		101163490	34371257	40	3544											
GPR123	84435	broad.mit.edu	37	chr10	134942117	134942117	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgcgcgccgccgccttcaCgctgttcctgttcacggcca	3	9	11	18	6	2	0	2	0	0	0	3	0	3	0	5	1	1	4	5	1	0	3			TCGA-EJ-5521-01A-01D-1576-08	TCGA-EJ-5521-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71f9ca33-4f59-47fa-98b2-6074451c14a4	6d784e6d-e22b-41f0-9ea2-154445f6fe64	g.chr10:134942117C>T	ENST00000392607.3	+	7	1221	c.785C>T	c.(784-786)aCg>aTg	p.T262M	GPR123_ENST00000392606.2_Missense_Mutation_p.T165M|GPR123_ENST00000607359.1_Missense_Mutation_p.T981M	NM_001083909.1	NP_001077378.1	Q86SQ6	GP123_HUMAN	G protein-coupled receptor 123	262					G-protein coupled receptor signaling pathway (GO:0007186)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.T262M(1)|p.T981M(1)		endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(3)	14		all_cancers(35;1.8e-10)|all_epithelial(44;8.95e-09)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Colorectal(31;0.0585)|Melanoma(40;0.123)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;9.16e-06)|Epithelial(32;1.21e-05)|all cancers(32;1.63e-05)		GCCGCCTTCACGCTGTTCCTG	0.692																																						ENST00000607359.1																			2	Substitution - Missense(2)	p.T262M(1)|p.T981M(1)	prostate(2)	endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(3)	14						c.(2941-2943)aCg>aTg		G protein-coupled receptor 123							16	15	15					10																	134942117		2191	4288	6479	SO:0001583	missense	84435					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr10:134942117C>T	AB058731	CCDS41580.1	10q26	2014-08-08			ENSG00000197177	ENSG00000197177		"-", "GPCR / Class B : Orphans"	13838	protein-coding gene	gene with protein product		612302				12565841	Standard	XM_005252695		Approved	KIAA1828	uc001llw.3	Q86SQ6	OTTHUMG00000019304	ENST00000392607.3:c.785C>T	10.37:g.134942117C>T	ENSP00000376384:p.Thr262Met					GPR123_ENST00000392606.2_Missense_Mutation_p.T165M|GPR123_ENST00000392607.3_Missense_Mutation_p.T262M	p.T981M			Q86SQ6	GP123_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;9.16e-06)|Epithelial(32;1.21e-05)|all cancers(32;1.63e-05)	16	2942	+		all_cancers(35;1.8e-10)|all_epithelial(44;8.95e-09)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Colorectal(31;0.0585)|Melanoma(40;0.123)|Glioma(114;0.203)	262					A5HL16|A6NG50|Q5T234|Q86SN7|Q96JJ9	Missense_Mutation	SNP	ENST00000392607.3	37	c.2942C>T	CCDS41580.1	.	.	.	.	.	.	.	.	.	.	.	22.5	4.296494	0.81025	.	.	ENSG00000197177	ENST00000368577;ENST00000392607;ENST00000392606	T	0.36340	1.26	4.85	4.85	0.62838	GPCR, family 2-like (1);	0.000000	0.64402	D	0.000009	T	0.58736	0.2143	M	0.73962	2.25	0.58432	D	0.999999	D;D	0.71674	0.995;0.998	D;D	0.66497	0.923;0.944	T	0.62397	-0.6863	10	0.56958	D	0.05	-27.2516	15.8223	0.78667	0.0:1.0:0.0:0.0	.	262;981	Q86SQ6;Q86SQ6-1	GP123_HUMAN;.	M	981;262;166	ENSP00000376384:T262M	ENSP00000357566:T981M	T	+	2	0	GPR123	134792107	1.000000	0.71417	1.000000	0.80357	0.598000	0.36846	5.591000	0.67536	2.419000	0.82065	0.491000	0.48974	ACG		0.692	GPR123-003	NOVEL	basic|appris_candidate|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000051113.2			5	13	0	0	0	1	0	5	13					T	134942117	C	T	134942117	3	4	68	1	0	0	0	0	1	0	0	0	6637	536	19	1	807	1	GPR123	10	134942117	Missense_Mutation	SNP	C	TCGA-EJ-5521-01A-01D-1576-08	33778627	134942117	592630	41	3545											
OR51F1	256892	broad.mit.edu	37	chr11	4791052	4791052	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atggcataaaaacaacagaaAggaatggagatccagacatg	20	5	10	6	0	0	3	0	0	0	3	1	5	1	4	1	3	2	1	1	3	6	1			TCGA-EJ-5521-01A-01D-1576-08	TCGA-EJ-5521-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71f9ca33-4f59-47fa-98b2-6074451c14a4	6d784e6d-e22b-41f0-9ea2-154445f6fe64	g.chr11:4791052A>T	ENST00000380383.1	-	1	116	c.117T>A	c.(115-117)ccT>ccA	p.P39P	MMP26_ENST00000380390.1_Intron|OR51F1_ENST00000343430.3_Silent_p.P32P|MMP26_ENST00000477339.1_Intron			A6NGY5	O51F1_HUMAN	olfactory receptor, family 51, subfamily F, member 1	39						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.P32P(1)		kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	22		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778)		Epithelial(150;5.87e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0045)|LUSC - Lung squamous cell carcinoma(625;0.192)		AACAACAGAAAGGAATGGAGA	0.453																																						ENST00000380383.1																			1	Substitution - coding silent(1)	p.P32P(1)	prostate(1)	kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	22						c.(115-117)ccT>ccA		olfactory receptor, family 51, subfamily F, member 1							55	55	55					11																	4791052		2201	4298	6499	SO:0001819	synonymous_variant	256892					integral to membrane	olfactory receptor activity	g.chr11:4791052A>T	BK004771	CCDS31359.1	11p15.4	2012-08-09		2004-03-10	ENSG00000188069	ENSG00000188069		"GPCR / Class A : Olfactory receptors"	15196	protein-coding gene	gene with protein product				OR51F1P			Standard	NM_001004752		Approved		uc010qyl.2	A6NGY5	OTTHUMG00000066503	ENST00000380383.1:c.117T>A	11.37:g.4791052A>T						OR51F1_ENST00000343430.3_Silent_p.P32P|MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	p.P39P			A6NLW9	A6NLW9_HUMAN		Epithelial(150;5.87e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0045)|LUSC - Lung squamous cell carcinoma(625;0.192)	1	116	-		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778)	32						Silent	SNP	ENST00000380383.1	37	c.117T>A																																																																																					0.453	OR51F1-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001004752		11	41	0	0	0	1	0	11	41					T	4791052	A	T	4791052	2	4	68	1	0	0	0	0	0	0	0	1	11096	59	3	5		5	OR51F1	11	4791052	Silent	SNP	A	TCGA-EJ-5521-01A-01D-1576-08		4791052	130215464	42	3546											
SIK3	23387	broad.mit.edu	37	chr11	116729309	116729309	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tggagagaaccccactcctgTtgaagggctgtagctgctgg	8	9	14	10	0	0	2	0	1	0	1	1	4	1	3	3	3	3	5	3	3	3	2	rs141671439		TCGA-EJ-5521-01A-01D-1576-08	TCGA-EJ-5521-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71f9ca33-4f59-47fa-98b2-6074451c14a4	6d784e6d-e22b-41f0-9ea2-154445f6fe64	g.chr11:116729309T>C	ENST00000292055.4	-	20	2589	c.2554A>G	c.(2554-2556)Aca>Gca	p.T852A	SIK3_ENST00000446921.2_Intron|SIK3_ENST00000434315.2_Intron|SIK3_ENST00000542607.1_Intron|SIK3_ENST00000488337.1_Intron|SIK3_ENST00000375288.1_Intron|SIK3_ENST00000375300.1_Missense_Mutation_p.T910A|AP006216.12_ENST00000444200.1_RNA	NM_025164.3	NP_079440.3	Q9Y2K2	SIK3_HUMAN	SIK family kinase 3	852	Gln-rich.				protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)	p.T958A(1)		breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	57						CCCACTCCTGTTGAAGGGCTG	0.582													T|||	1	0.000199681	0	0	5008	,	,		18667	0		0.001	False		,,,				2504	0					ENST00000375300.1																			1	Substitution - Missense(1)	p.T958A(1)	prostate(1)	breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	57						c.(2728-2730)Aca>Gca		SIK family kinase 3							80	87	85					11																	116729309		2201	4296	6497	SO:0001583	missense	23387					cytoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity	g.chr11:116729309T>C	AB023216	CCDS8379.1, CCDS60974.1, CCDS8379.2	11q23.3	2010-02-17			ENSG00000160584	ENSG00000160584			29165	protein-coding gene	gene with protein product		614776				10231032, 8889548	Standard	NM_025164		Approved	FLJ12240, L19, KIAA0999, QSK	uc001ppy.3	Q9Y2K2	OTTHUMG00000066628	ENST00000292055.4:c.2554A>G	11.37:g.116729309T>C	ENSP00000292055:p.Thr852Ala					SIK3_ENST00000446921.2_Intron|SIK3_ENST00000542607.1_Intron|SIK3_ENST00000292055.4_Missense_Mutation_p.T852A|SIK3_ENST00000434315.2_Intron|SIK3_ENST00000488337.1_Intron|SIK3_ENST00000375288.1_Intron	p.T910A			Q9Y2K2	SIK3_HUMAN			20	2733	-			852			Gln-rich.		A1A5A8|Q59FY2|Q5M9N1|Q6P3R6|Q8IYM8|Q9HA50	Missense_Mutation	SNP	ENST00000292055.4	37	c.2728A>G	CCDS8379.1	1|1	4.578754578754579E-4|4.578754578754579E-4	0|0	0.0|0.0	0|0	0.0|0.0	0|0	0.0|0.0	1|1	0.0013192612137203166|0.0013192612137203166	T|T	12.41|12.41	1.928353|1.928353	0.34002|0.34002	.|.	.|.	ENSG00000160584|ENSG00000160584	ENST00000445177|ENST00000375300;ENST00000292055	.|T;T	.|0.70986	.|-0.5;-0.53	5.58|5.58	-5.37|-5.37	0.02681|0.02681	.|.	.|0.684009	.|0.12074	.|U	.|0.501979	T|T	0.40909|0.40909	0.1136|0.1136	N|N	0.08118|0.08118	0|0	0.58432|0.58432	D|D	0.999992|0.999992	.|B;B	.|0.02656	.|0.0;0.0	.|B;B	.|0.06405	.|0.002;0.0	T|T	0.01549|0.01549	-1.1327|-1.1327	5|10	.|0.33141	.|T	.|0.24	.|.	5.6675|5.6675	0.17702|0.17702	0.1045:0.4964:0.1062:0.2929|0.1045:0.4964:0.1062:0.2929	.|.	.|852;852	.|Q9Y2K2-3;Q9Y2K2	.|.;SIK3_HUMAN	S|A	951|910;852	.|ENSP00000364449:T910A;ENSP00000292055:T852A	.|ENSP00000292055:T852A	N|T	-|-	2|1	0|0	SIK3|SIK3	116234519|116234519	0.010000|0.010000	0.17322|0.17322	0.962000|0.962000	0.40283|0.40283	0.996000|0.996000	0.88848|0.88848	-0.563000|-0.563000	0.05943|0.05943	-0.812000|-0.812000	0.04363|0.04363	-0.250000|-0.250000	0.11733|0.11733	AAC|ACA		0.582	SIK3-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		NM_025164		45	133	0	0	0	1	0	45	133					C	116729309	T	C	116729309	3	2	68	1	0	0	0	0	1	0	0	0	14319	1725	60	4	1253	4	SIK3	11	116729309	Missense_Mutation	SNP	T	TCGA-EJ-5521-01A-01D-1576-08	111938257	116729309	18277207	43	3547											
SIK3	23387	broad.mit.edu	37	chr11	116767026	116767026	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcacgcgggcccgcagatTctgcagtgtgcttccatcaa	8	8	11	14	3	2	1	1	0	1	1	3	1	3	1	2	1	3	4	2	1	1	2			TCGA-EJ-5521-01A-01D-1576-08	TCGA-EJ-5521-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71f9ca33-4f59-47fa-98b2-6074451c14a4	6d784e6d-e22b-41f0-9ea2-154445f6fe64	g.chr11:116767026T>C	ENST00000292055.4	-	6	669	c.634A>G	c.(634-636)Aat>Gat	p.N212D	SIK3_ENST00000446921.2_Missense_Mutation_p.N270D|SIK3_ENST00000434315.2_Missense_Mutation_p.N111D|SIK3_ENST00000542607.1_Missense_Mutation_p.N212D|SIK3_ENST00000375288.1_5'UTR|SIK3_ENST00000375300.1_Missense_Mutation_p.N270D	NM_025164.3	NP_079440.3	Q9Y2K2	SIK3_HUMAN	SIK family kinase 3	212	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)	p.N270D(1)		breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	57						GCCCGCAGATTCTGCAGTGTG	0.507																																						ENST00000375300.1																			1	Substitution - Missense(1)	p.N270D(1)	prostate(1)	breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	57						c.(808-810)Aat>Gat		SIK family kinase 3							96	92	93					11																	116767026		2201	4296	6497	SO:0001583	missense	23387					cytoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity	g.chr11:116767026T>C	AB023216	CCDS8379.1, CCDS60974.1, CCDS8379.2	11q23.3	2010-02-17			ENSG00000160584	ENSG00000160584			29165	protein-coding gene	gene with protein product		614776				10231032, 8889548	Standard	NM_025164		Approved	FLJ12240, L19, KIAA0999, QSK	uc001ppy.3	Q9Y2K2	OTTHUMG00000066628	ENST00000292055.4:c.634A>G	11.37:g.116767026T>C	ENSP00000292055:p.Asn212Asp					SIK3_ENST00000446921.2_Missense_Mutation_p.N270D|SIK3_ENST00000542607.1_Missense_Mutation_p.N212D|SIK3_ENST00000292055.4_Missense_Mutation_p.N212D|SIK3_ENST00000434315.2_Missense_Mutation_p.N111D|SIK3_ENST00000375288.1_5'UTR	p.N270D			Q9Y2K2	SIK3_HUMAN			6	813	-			212					A1A5A8|Q59FY2|Q5M9N1|Q6P3R6|Q8IYM8|Q9HA50	Missense_Mutation	SNP	ENST00000292055.4	37	c.808A>G	CCDS8379.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	20.7|20.7	4.035237|4.035237	0.75617|0.75617	.|.	.|.	ENSG00000160584|ENSG00000160584	ENST00000445177;ENST00000446921;ENST00000413553|ENST00000375300;ENST00000292055;ENST00000542607;ENST00000434315	.|T;T;T;T	.|0.65178	.|-0.14;-0.14;-0.14;-0.14	5.49|5.49	5.49|5.49	0.81192|0.81192	.|Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	.|0.000000	.|0.44097	.|U	.|0.000490	T|T	0.42404|0.42404	0.1201|0.1201	N|N	0.01250|0.01250	-0.93|-0.93	0.80722|0.80722	D|D	1|1	.|P;B;P	.|0.36837	.|0.571;0.0;0.571	.|B;B;B	.|0.43990	.|0.27;0.007;0.438	T|T	0.57700|0.57700	-0.7766|-0.7766	5|10	.|0.46703	.|T	.|0.11	.|.	14.5398|14.5398	0.67984|0.67984	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|212;111;212	.|A1A5A8;A1A5A9;Q9Y2K2	.|.;.;SIK3_HUMAN	G|D	263;234;172|270;212;212;111	.|ENSP00000364449:N270D;ENSP00000292055:N212D;ENSP00000438108:N212D;ENSP00000415873:N111D	.|ENSP00000292055:N212D	E|N	-|-	2|1	0|0	SIK3|SIK3	116272236|116272236	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.980000|0.980000	0.70556|0.70556	6.167000|6.167000	0.71902|0.71902	2.085000|2.085000	0.62840|0.62840	0.460000|0.460000	0.39030|0.39030	GAA|AAT		0.507	SIK3-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		NM_025164		6	116	0	0	0	1	0	6	116					C	116767026	T	C	116767026	3	2	68	1	0	0	0	0	1	0	0	0	14319	1783	62	4	3229	4	SIK3	11	116767026	Missense_Mutation	SNP	T	TCGA-EJ-5521-01A-01D-1576-08	37717	116767026	18239490	44	3548											
PTPN6	5777	broad.mit.edu	37	chr12	7061281	7061281	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagggtgtcctgcaggaccgCgacggcaccatcatccacct	8	6	11	16	3	1	0	1	0	0	0	3	2	3	1	5	3	1	2	5	3	0	0			TCGA-EJ-5521-01A-01D-1576-08	TCGA-EJ-5521-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71f9ca33-4f59-47fa-98b2-6074451c14a4	6d784e6d-e22b-41f0-9ea2-154445f6fe64	g.chr12:7061281C>T	ENST00000318974.9	+	3	511	c.267C>T	c.(265-267)cgC>cgT	p.R89R	PTPN6_ENST00000447931.2_Silent_p.R50R|PTPN6_ENST00000456013.1_Silent_p.R89R|PTPN6_ENST00000399448.1_Silent_p.R91R	NM_002831.5	NP_002822.2	P29350	PTN6_HUMAN	protein tyrosine phosphatase, non-receptor type 6	89	SH2 1. {ECO:0000255|PROSITE- ProRule:PRU00191}.				abortive mitotic cell cycle (GO:0033277)|apoptotic process (GO:0006915)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cytokine-mediated signaling pathway (GO:0019221)|G-protein coupled receptor signaling pathway (GO:0007186)|interferon-gamma-mediated signaling pathway (GO:0060333)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|leukocyte migration (GO:0050900)|megakaryocyte development (GO:0035855)|natural killer cell mediated cytotoxicity (GO:0042267)|negative regulation of B cell receptor signaling pathway (GO:0050859)|negative regulation of cell proliferation (GO:0008285)|negative regulation of humoral immune response mediated by circulating immunoglobulin (GO:0002924)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of peptidyl-tyrosine phosphorylation (GO:0050732)|negative regulation of T cell proliferation (GO:0042130)|negative regulation of T cell receptor signaling pathway (GO:0050860)|peptidyl-tyrosine dephosphorylation (GO:0035335)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet aggregation (GO:0070527)|platelet formation (GO:0030220)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cell proliferation (GO:0008284)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|protein dephosphorylation (GO:0006470)|regulation of B cell differentiation (GO:0045577)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of G1/S transition of mitotic cell cycle (GO:2000045)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|T cell costimulation (GO:0031295)|type I interferon signaling pathway (GO:0060337)	alpha-beta T cell receptor complex (GO:0042105)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.R89R(2)		breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|prostate(3)	18						TGCAGGACCGCGACGGCACCA	0.587																																						ENST00000456013.1																			2	Substitution - coding silent(2)	p.R89R(2)	prostate(2)	breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|prostate(3)	18						c.(265-267)cgC>cgT		protein tyrosine phosphatase, non-receptor type 6							105	124	117					12																	7061281		2199	4296	6495	SO:0001819	synonymous_variant	5777				apoptosis|cell junction assembly|G-protein coupled receptor protein signaling pathway|interferon-gamma-mediated signaling pathway|leukocyte migration|negative regulation of peptidyl-tyrosine phosphorylation|platelet activation|positive regulation of cell proliferation|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of G1/S transition of mitotic cell cycle|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|T cell costimulation|type I interferon-mediated signaling pathway	cytosol|membrane|nucleus	protein binding|protein tyrosine phosphatase activity	g.chr12:7061281C>T		CCDS41744.1, CCDS44820.1, CCDS44821.1	12p13.31	2013-02-14			ENSG00000111679	ENSG00000111679		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor", "SH2 domain containing"	9658	protein-coding gene	gene with protein product		176883				1639416	Standard	NM_080548		Approved	HCP, HCPH, PTP-1C, SHP-1, SHP1	uc001qsa.1	P29350	OTTHUMG00000168518	ENST00000318974.9:c.267C>T	12.37:g.7061281C>T						PTPN6_ENST00000399448.1_Silent_p.R91R|PTPN6_ENST00000447931.2_Silent_p.R50R|PTPN6_ENST00000318974.9_Silent_p.R89R	p.R89R	NM_080549.3	NP_536859.1	P29350	PTN6_HUMAN			3	509	+			89			SH2 1.		A8K306|G3V0F8|Q969V8|Q9UK67	Silent	SNP	ENST00000318974.9	37	c.267C>T	CCDS44820.1																																																																																				0.587	PTPN6-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400023.1	NM_002831		12	132	0	0	0	1	0	12	132					T	7061281	C	T	7061281	2	4	68	1	0	0	0	0	0	0	0	1	12792	755	27	1		1	PTPN6	12	7061281	Silent	SNP	C	TCGA-EJ-5521-01A-01D-1576-08		7061281	126790614	45	3549											
SLCO1C1	53919	broad.mit.edu	37	chr12	20890188	20890188	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gctggttgtcaaacctccaaCaggagtggaaaaaatattgt	14	10	10	7	0	1	0	1	0	0	0	2	2	2	2	2	3	2	2	2	3	6	3			TCGA-EJ-5521-01A-01D-1576-08	TCGA-EJ-5521-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71f9ca33-4f59-47fa-98b2-6074451c14a4	6d784e6d-e22b-41f0-9ea2-154445f6fe64	g.chr12:20890188C>A	ENST00000266509.2	+	11	1898	c.1530C>A	c.(1528-1530)aaC>aaA	p.N510K	SLCO1C1_ENST00000381552.1_Missense_Mutation_p.N510K|SLCO1C1_ENST00000540354.1_Missense_Mutation_p.N461K|SLCO1C1_ENST00000545102.1_Missense_Mutation_p.N392K|SLCO1C1_ENST00000545604.1_Missense_Mutation_p.N510K	NM_017435.4	NP_059131.1	Q9NYB5	SO1C1_HUMAN	solute carrier organic anion transporter family, member 1C1	510	Kazal-like. {ECO:0000255|PROSITE- ProRule:PRU00798}.				sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)	p.N510K(1)		NS(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	60	Esophageal squamous(101;0.149)				Conjugated Estrogens(DB00286)|Dextrothyroxine(DB00509)|Diclofenac(DB00586)|Digoxin(DB00390)|Dinoprostone(DB00917)|Estradiol(DB00783)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)|Meclofenamic acid(DB00939)|Methotrexate(DB00563)|Ouabain(DB01092)|Phenytoin(DB00252)|Probenecid(DB01032)	AAACCTCCAACAGGAGTGGAA	0.413																																						ENST00000381552.1																			1	Substitution - Missense(1)	p.N510K(1)	prostate(1)	NS(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	60						c.(1528-1530)aaC>aaA		solute carrier organic anion transporter family, member 1C1							94	88	90					12																	20890188		2203	4300	6503	SO:0001583	missense	53919				sodium-independent organic anion transport	integral to membrane|plasma membrane	thyroid hormone transmembrane transporter activity	g.chr12:20890188C>A	AF260704	CCDS8683.1, CCDS53757.1, CCDS53758.1, CCDS53759.1	12p12.2	2013-05-22	2003-11-25	2003-11-26	ENSG00000139155	ENSG00000139155		"Solute carriers"	13819	protein-coding gene	gene with protein product		613389	"solute carrier family 21 (organic anion transporter), member 14"	SLC21A14			Standard	NM_017435		Approved	OATP-F, OATP1C1, OATP1	uc010sii.2	Q9NYB5	OTTHUMG00000168966	ENST00000266509.2:c.1530C>A	12.37:g.20890188C>A	ENSP00000266509:p.Asn510Lys					SLCO1C1_ENST00000266509.2_Missense_Mutation_p.N510K|SLCO1C1_ENST00000540354.1_Missense_Mutation_p.N461K|SLCO1C1_ENST00000545102.1_Missense_Mutation_p.N392K|SLCO1C1_ENST00000545604.1_Missense_Mutation_p.N510K	p.N510K			Q9NYB5	SO1C1_HUMAN			11	1898	+	Esophageal squamous(101;0.149)		510			Kazal-like.		B7Z251|B7Z3Q3|B7Z8P1|F5GZD6|Q5JPA4	Missense_Mutation	SNP	ENST00000266509.2	37	c.1530C>A	CCDS8683.1	.	.	.	.	.	.	.	.	.	.	C	1.648	-0.514714	0.04200	.	.	ENSG00000139155	ENST00000545604;ENST00000540354;ENST00000266509;ENST00000381552;ENST00000545102	T;T;T;T;T	0.03831	3.79;3.79;3.79;3.79;3.79	5.02	4.13	0.48395	Proteinase inhibitor I1, Kazal (1);Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);Protease inhibitor, Kazal-type (1);	0.592581	0.20053	N	0.100252	T	0.02193	0.0068	N	0.05078	-0.115	0.33263	D	0.559955	B;B;B;B	0.10296	0.003;0.001;0.002;0.002	B;B;B;B	0.16722	0.009;0.01;0.016;0.01	T	0.30736	-0.9968	10	0.06494	T	0.89	.	8.5671	0.33547	0.0:0.8252:0.0:0.1748	.	392;461;510;510	F5GZD6;B7Z3Q3;Q5JPA4;Q9NYB5	.;.;.;SO1C1_HUMAN	K	510;461;510;510;392	ENSP00000444149:N510K;ENSP00000438665:N461K;ENSP00000266509:N510K;ENSP00000370964:N510K;ENSP00000444527:N392K	ENSP00000266509:N510K	N	+	3	2	SLCO1C1	20781455	0.001000	0.12720	0.997000	0.53966	0.994000	0.84299	-0.196000	0.09532	2.770000	0.95276	0.650000	0.86243	AAC		0.413	SLCO1C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401765.1	NM_017435		14	100	1	0	0.00185496	1	0.00197862	14	100					A	20890188	C	A	20890188	3	1	68	1	0	0	0	0	1	0	0	0	14725	477	17	5	1568	5	SLCO1C1	12	20890188	Missense_Mutation	SNP	C	TCGA-EJ-5521-01A-01D-1576-08	13828907	20890188	112961707	46	3550											
NEUROD4	58158	broad.mit.edu	37	chr12	55420976	55420976	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	agtacacccccttatgagggCccactcactccacccctgag	9	7	7	18	0	1	2	1	2	0	0	2	2	2	2	6	1	1	1	6	1	2	2			TCGA-EJ-5521-01A-01D-1576-08	TCGA-EJ-5521-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71f9ca33-4f59-47fa-98b2-6074451c14a4	6d784e6d-e22b-41f0-9ea2-154445f6fe64	g.chr12:55420976C>A	ENST00000242994.3	+	2	1131	c.753C>A	c.(751-753)ggC>ggA	p.G251G		NM_021191.2	NP_067014.2	Q9HD90	NDF4_HUMAN	neuronal differentiation 4	251					amacrine cell differentiation (GO:0035881)|cell fate commitment (GO:0045165)|glial cell differentiation (GO:0010001)|neuroblast proliferation (GO:0007405)|neuron development (GO:0048666)|neuron migration (GO:0001764)|Notch signaling pathway (GO:0007219)|positive regulation of cell differentiation (GO:0045597)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)	p.G251G(1)		breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	41						CTTATGAGGGCCCACTCACTC	0.502																																						ENST00000242994.3																			1	Substitution - coding silent(1)	p.G251G(1)	prostate(1)	breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	41						c.(751-753)ggC>ggA		neuronal differentiation 4							102	100	101					12																	55420976		2203	4300	6503	SO:0001819	synonymous_variant	58158				amacrine cell differentiation|positive regulation of cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr12:55420976C>A	AF203901	CCDS8886.1	12q13.13	2013-05-21	2012-02-22			ENSG00000123307		"Basic helix-loop-helix proteins"	13802	protein-coding gene	gene with protein product		611635	"neurogenic differentiation 4"				Standard	NM_021191		Approved	Atoh3, ATH-3, MATH-3, bHLHa4	uc001sgp.4	Q9HD90		ENST00000242994.3:c.753C>A	12.37:g.55420976C>A							p.G251G	NM_021191.2	NP_067014.2	Q9HD90	NDF4_HUMAN			2	1131	+			251					B2RAC9	Silent	SNP	ENST00000242994.3	37	c.753C>A	CCDS8886.1																																																																																				0.502	NEUROD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406104.1			23	159	1	0	9.95505e-16	1	1.13772e-15	23	159					A	55420976	C	A	55420976	2	1	68	1	0	0	0	0	0	0	0	1	10350	726	26	5		5	NEUROD4	12	55420976	Silent	SNP	C	TCGA-EJ-5521-01A-01D-1576-08	34530788	55420976	78430919	47	3551											
NALCN	259232	broad.mit.edu	37	chr13	102047576	102047576	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atttttgctatcatctctgcCgtgtagagaaacatcaataa	13	14	6	8	1	3	1	2	0	1	1	4	2	3	1	1	0	3	2	1	0	5	5	rs145910377	byFrequency	TCGA-EJ-5521-01A-01D-1576-08	TCGA-EJ-5521-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71f9ca33-4f59-47fa-98b2-6074451c14a4	6d784e6d-e22b-41f0-9ea2-154445f6fe64	g.chr13:102047576C>T	ENST00000251127.6	-	3	330	c.249G>A	c.(247-249)acG>acA	p.T83T	NALCN_ENST00000376196.3_Silent_p.T83T|NALCN_ENST00000470333.1_5'UTR|NALCN_ENST00000376200.5_Silent_p.T83T	NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	83					calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|cell death (GO:0008219)|ion transmembrane transport (GO:0034220)|membrane depolarization during action potential (GO:0086010)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium channel activity (GO:0005272)|voltage-gated calcium channel activity (GO:0005245)	p.T83T(2)		NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					TCATCTCTGCCGTGTAGAGAA	0.403																																						ENST00000251127.6																			2	Substitution - coding silent(2)	p.T83T(2)	prostate(1)|skin(1)	NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177						c.(247-249)acG>acA		sodium leak channel, non-selective		C		3,4403	6.2+/-15.9	0,3,2200	122	96	105		249	-7.1	0.6	13	dbSNP_134	105	0,8600		0,0,4300	no	coding-synonymous	NALCN	NM_052867.2		0,3,6500	TT,TC,CC		0.0,0.0681,0.0231		83/1739	102047576	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	259232					integral to membrane	sodium channel activity|voltage-gated ion channel activity	g.chr13:102047576C>T	AY141972	CCDS9498.1	13q32.3	2012-02-21	2007-04-26	2007-04-26	ENSG00000102452	ENSG00000102452		"Ion channels / Sodium leak channels, non-selective"	19082	protein-coding gene	gene with protein product		611549	"voltage gated channel like 1"	VGCNL1		17448995	Standard	XM_006719943		Approved	bA430M15.1, CanIon	uc001vox.1	Q8IZF0	OTTHUMG00000017295	ENST00000251127.6:c.249G>A	13.37:g.102047576C>T						NALCN_ENST00000470333.1_5'UTR|NALCN_ENST00000376196.3_Silent_p.T83T|NALCN_ENST00000376200.5_Silent_p.T83T	p.T83T	NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN			3	330	-	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		83					Q6P2S6|Q6ZMI7|Q8IZZ1|Q8TAH1	Silent	SNP	ENST00000251127.6	37	c.249G>A	CCDS9498.1																																																																																				0.403	NALCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045663.2	NM_052867		18	95	0	0	0	1	0	18	95					T	102047576	C	T	102047576	2	4	68	1	0	0	0	0	0	0	0	1	10148	639	23	2		2	NALCN	13	102047576	Silent	SNP	C	TCGA-EJ-5521-01A-01D-1576-08		102047576	13122302	48	3552											
AHNAK2	113146	broad.mit.edu	37	chr14	105413230	105413230	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagtggtcttaagatcccctTgcatggaggggaagctcccg	8	9	13	11	1	1	1	0	0	1	1	3	3	3	3	3	4	2	2	3	4	2	2			TCGA-EJ-5521-01A-01D-1576-08	TCGA-EJ-5521-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71f9ca33-4f59-47fa-98b2-6074451c14a4	6d784e6d-e22b-41f0-9ea2-154445f6fe64	g.chr14:105413230T>G	ENST00000333244.5	-	7	8677	c.8558A>C	c.(8557-8559)cAa>cCa	p.Q2853P	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	2853						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)		p.Q2853P(1)		cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			AAGATCCCCTTGCATGGAGGG	0.622																																						ENST00000333244.5																			1	Substitution - Missense(1)	p.Q2853P(1)	prostate(1)	cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33						c.(8557-8559)cAa>cCa		AHNAK nucleoprotein 2							134	153	147					14																	105413230		1972	4153	6125	SO:0001583	missense	113146					nucleus		g.chr14:105413230T>G	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"chromosome 14 open reading frame 78"	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.8558A>C	14.37:g.105413230T>G	ENSP00000353114:p.Gln2853Pro					AHNAK2_ENST00000557457.1_Intron	p.Q2853P	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)		7	8677	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	2853					Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	ENST00000333244.5	37	c.8558A>C	CCDS45177.1	.	.	.	.	.	.	.	.	.	.	t	5.892	0.348715	0.11126	.	.	ENSG00000185567	ENST00000333244	T	0.00745	5.75	3.07	-1.02	0.10135	.	.	.	.	.	T	0.00784	0.0026	L	0.50919	1.6	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.47686	-0.9098	9	0.36615	T	0.2	.	0.9639	0.01401	0.1567:0.2955:0.161:0.3868	.	2853	Q8IVF2	AHNK2_HUMAN	P	2853	ENSP00000353114:Q2853P	ENSP00000353114:Q2853P	Q	-	2	0	AHNAK2	104484275	.	.	0.000000	0.03702	0.010000	0.07245	.	.	-0.432000	0.07297	-0.983000	0.02560	CAA		0.622	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		19	230	0	0	0	1	0	19	230					G	105413230	T	G	105413230	3	3	68	1	0	0	0	0	1	0	0	0	415	1812	63	5	8833	5	AHNAK2	14	105413230	Missense_Mutation	SNP	T	TCGA-EJ-5521-01A-01D-1576-08		105413230	1936310	49	3553											
CAPN3	825	broad.mit.edu	37	chr15	42681231	42681231	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagatcagggatgctcctagTgacatgtacaagatcatgaa	14	9	11	7	0	2	4	2	2	0	2	3	6	3	5	1	1	2	2	1	1	4	2			TCGA-EJ-5521-01A-01D-1576-08	TCGA-EJ-5521-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71f9ca33-4f59-47fa-98b2-6074451c14a4	6d784e6d-e22b-41f0-9ea2-154445f6fe64	g.chr15:42681231T>G	ENST00000397163.3	+	5	957	c.738T>G	c.(736-738)agT>agG	p.S246R	RP11-164J13.1_ENST00000495723.1_RNA|CAPN3_ENST00000318023.7_Missense_Mutation_p.S246R|CAPN3_ENST00000349748.3_Missense_Mutation_p.S246R|CAPN3_ENST00000356316.3_Missense_Mutation_p.S159R|CAPN3_ENST00000357568.3_Missense_Mutation_p.S246R	NM_000070.2	NP_000061.1	P20807	CAN3_HUMAN	calpain 3, (p94)	246	Calpain catalytic. {ECO:0000255|PROSITE- ProRule:PRU00239}.				apoptotic process (GO:0006915)|autolysis (GO:0001896)|cellular response to calcium ion (GO:0071277)|cellular response to salt stress (GO:0071472)|G1 to G0 transition involved in cell differentiation (GO:0070315)|muscle cell cellular homeostasis (GO:0046716)|muscle organ development (GO:0007517)|muscle structure development (GO:0061061)|myofibril assembly (GO:0030239)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein sumoylation (GO:0033234)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of proteolysis (GO:0045862)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of satellite cell activation involved in skeletal muscle regeneration (GO:0014718)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein localization to membrane (GO:0072657)|proteolysis (GO:0006508)|regulation of catalytic activity (GO:0050790)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of myoblast differentiation (GO:0045661)|response to calcium ion (GO:0051592)|response to muscle activity (GO:0014850)|sarcomere organization (GO:0045214)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular (GO:0005622)|myofibril (GO:0030016)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|T-tubule (GO:0030315)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|catalytic activity (GO:0003824)|cysteine-type peptidase activity (GO:0008234)|ligase regulator activity (GO:0055103)|peptidase activity (GO:0008233)|protein complex scaffold (GO:0032947)|signal transducer activity (GO:0004871)|sodium ion binding (GO:0031402)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)	p.S246R(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	47		all_cancers(109;1.65e-16)|all_epithelial(112;8.34e-15)|Lung NSC(122;3.56e-09)|all_lung(180;1.68e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;7.36e-07)		ATGCTCCTAGTGACATGTACA	0.542																																						ENST00000397163.3																			1	Substitution - Missense(1)	p.S246R(1)	prostate(1)	NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	47						c.(736-738)agT>agG		calpain 3, (p94)							123	116	119					15																	42681231		2203	4299	6502	SO:0001583	missense	825				muscle organ development|proteolysis	cytoplasm	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity|signal transducer activity	g.chr15:42681231T>G	X85030	CCDS10085.1, CCDS10086.1, CCDS32207.1, CCDS45245.1, CCDS45246.1	15q15.1	2014-09-17			ENSG00000092529	ENSG00000092529	3.4.22.52	"EF-hand domain containing"	1480	protein-coding gene	gene with protein product		114240		LGMD2, LGMD2A		2555341, 7720071	Standard	NM_024344		Approved	CANP3, p94, nCL-1	uc001zpn.1	P20807	OTTHUMG00000130619	ENST00000397163.3:c.738T>G	15.37:g.42681231T>G	ENSP00000380349:p.Ser246Arg					CAPN3_ENST00000349748.3_Missense_Mutation_p.S246R|CAPN3_ENST00000357568.3_Missense_Mutation_p.S246R|CAPN3_ENST00000318023.7_Missense_Mutation_p.S246R|CAPN3_ENST00000356316.3_Missense_Mutation_p.S159R|RP11-164J13.1_ENST00000495723.1_RNA	p.S246R	NM_000070.2	NP_000061.1	P20807	CAN3_HUMAN		GBM - Glioblastoma multiforme(94;7.36e-07)	5	957	+		all_cancers(109;1.65e-16)|all_epithelial(112;8.34e-15)|Lung NSC(122;3.56e-09)|all_lung(180;1.68e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)	246			Calpain catalytic.		A6H8K6|Q7L4R0|Q9BQC8|Q9BTU4|Q9Y5S6|Q9Y5S7	Missense_Mutation	SNP	ENST00000397163.3	37	c.738T>G	CCDS45245.1	.	.	.	.	.	.	.	.	.	.	T	3.063	-0.192787	0.06259	.	.	ENSG00000092529	ENST00000356316;ENST00000397163;ENST00000357568;ENST00000349748;ENST00000318023	D;D;D;D;D	0.97352	-4.35;-4.35;-4.35;-4.35;-4.35	5.41	-2.94	0.05581	Peptidase C2, calpain, catalytic domain (3);	0.121669	0.53938	N	0.000054	D	0.87736	0.6252	N	0.17379	0.485	0.32054	N	0.596627	B;B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0;0.0	B;B;B;B;B;B	0.06405	0.0;0.001;0.0;0.001;0.001;0.002	T	0.77590	-0.2531	10	0.11485	T	0.65	.	0.8154	0.01101	0.3472:0.1163:0.2836:0.2529	.	159;159;246;246;246;159	C6EVS4;C6EVS3;P20807-2;P20807-3;P20807;Q762C8	.;.;.;.;CAN3_HUMAN;.	R	159;246;246;246;246	ENSP00000348667:S159R;ENSP00000380349:S246R;ENSP00000350181:S246R;ENSP00000183936:S246R;ENSP00000326281:S246R	ENSP00000326281:S246R	S	+	3	2	CAPN3	40468523	1.000000	0.71417	0.961000	0.40146	0.156000	0.22039	1.077000	0.30741	-0.716000	0.04962	-1.288000	0.01363	AGT		0.542	CAPN3-009	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000421075.1			17	194	0	0	0	1	0	17	194					G	42681231	T	G	42681231	3	3	68	1	0	0	0	0	1	0	0	0	2628	1693	59	5	808	5	CAPN3	15	42681231	Missense_Mutation	SNP	T	TCGA-EJ-5521-01A-01D-1576-08		42681231	59850161	50	3554											
SLC12A1	6557	broad.mit.edu	37	chr15	48580269	48580269	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttaacacaagccagtcgatgCatgtgggagagttcaaccag	13	8	11	9	1	1	1	1	0	0	1	2	3	1	1	2	1	4	2	2	1	3	2			TCGA-EJ-5521-01A-01D-1576-08	TCGA-EJ-5521-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71f9ca33-4f59-47fa-98b2-6074451c14a4	6d784e6d-e22b-41f0-9ea2-154445f6fe64	g.chr15:48580269C>T	ENST00000558405.1	+	21	2673	c.2659C>T	c.(2659-2661)Cat>Tat	p.H887Y	SLC12A1_ENST00000380993.3_Missense_Mutation_p.H887Y|SLC12A1_ENST00000396577.3_Missense_Mutation_p.H887Y			Q13621	S12A1_HUMAN	solute carrier family 12 (sodium/potassium/chloride transporter), member 1	887					cell death (GO:0008219)|chemical homeostasis (GO:0048878)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|kidney development (GO:0001822)|potassium ion transport (GO:0006813)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	sodium:potassium:chloride symporter activity (GO:0008511)	p.H887Y(1)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|prostate(2)|skin(1)	59		all_lung(180;0.00219)		all cancers(107;1.76e-09)|GBM - Glioblastoma multiforme(94;1.48e-06)	Bumetanide(DB00887)|Chlormerodrin(DB00534)|Chlorthalidone(DB00310)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Potassium Chloride(DB00761)|Quinethazone(DB01325)|Torasemide(DB00214)|Trichlormethiazide(DB01021)	CCAGTCGATGCATGTGGGAGA	0.403																																						ENST00000396577.3																			1	Substitution - Missense(1)	p.H887Y(1)	prostate(1)	NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|prostate(2)|skin(1)	59						c.(2659-2661)Cat>Tat		solute carrier family 12 (sodium/potassium/chloride transporter), member 1	Bumetanide(DB00887)|Chlormerodrin(DB00534)|Chlorthalidone(DB00310)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Metolazone(DB00524)|Potassium Chloride(DB00761)|Torasemide(DB00214)|Trichlormethiazide(DB01021)						63	58	60					15																	48580269		2198	4297	6495	SO:0001583	missense	6557				potassium ion transport|sodium ion transport	integral to membrane|membrane fraction	sodium:potassium:chloride symporter activity	g.chr15:48580269C>T		CCDS10129.2, CCDS53940.1	15q15-q21	2013-07-18	2013-07-18		ENSG00000074803	ENSG00000074803		"Solute carriers"	10910	protein-coding gene	gene with protein product		600839				8640224	Standard	NM_000338		Approved	NKCC2	uc010bem.3	Q13621	OTTHUMG00000131495	ENST00000558405.1:c.2659C>T	15.37:g.48580269C>T	ENSP00000453409:p.His887Tyr					SLC12A1_ENST00000558405.1_Missense_Mutation_p.H887Y|SLC12A1_ENST00000380993.3_Missense_Mutation_p.H887Y	p.H887Y	NM_001184832.1	NP_001171761.1	Q13621	S12A1_HUMAN		all cancers(107;1.76e-09)|GBM - Glioblastoma multiforme(94;1.48e-06)	22	2874	+		all_lung(180;0.00219)	887					A8JYA2|E9PDW4	Missense_Mutation	SNP	ENST00000558405.1	37	c.2659C>T	CCDS10129.2	.	.	.	.	.	.	.	.	.	.	C	24.3	4.514205	0.85389	.	.	ENSG00000074803	ENST00000380993;ENST00000396577	D;D	0.82344	-1.6;-1.6	6.17	6.17	0.99709	.	0.095726	0.64402	D	0.000001	T	0.69824	0.3154	N	0.08118	0	0.52501	D	0.999957	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.001	T	0.64744	-0.6335	10	0.11182	T	0.66	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	887;887	E9PDW4;Q13621	.;S12A1_HUMAN	Y	887	ENSP00000370381:H887Y;ENSP00000379822:H887Y	ENSP00000370381:H887Y	H	+	1	0	SLC12A1	46367561	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.976000	0.76135	2.941000	0.99782	0.655000	0.94253	CAT		0.403	SLC12A1-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417131.1			7	25	0	0	0	1	0	7	25					T	48580269	C	T	48580269	3	4	68	1	0	0	0	0	1	0	0	0	14382	710	25	3	2841	3	SLC12A1	15	48580269	Missense_Mutation	SNP	C	TCGA-EJ-5521-01A-01D-1576-08	5899038	48580269	53951123	51	3555											
DPP8	54878	broad.mit.edu	37	chr15	65790302	65790302	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	atccagtctggatcagcaggGcataattttggatccatccg	10	11	10	10	1	2	0	1	0	1	0	5	2	5	2	3	3	1	2	3	3	1	3			TCGA-EJ-5521-01A-01D-1576-08	TCGA-EJ-5521-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71f9ca33-4f59-47fa-98b2-6074451c14a4	6d784e6d-e22b-41f0-9ea2-154445f6fe64	g.chr15:65790302G>A	ENST00000341861.5	-	5	2243	c.663C>T	c.(661-663)tgC>tgT	p.C221C	DPP8_ENST00000559233.1_Silent_p.C221C|DPP8_ENST00000300141.6_Silent_p.C205C|DPP8_ENST00000358939.4_Silent_p.C205C|DPP8_ENST00000321147.6_Silent_p.C221C|DPP8_ENST00000321118.7_Silent_p.C221C|DPP8_ENST00000339244.5_Silent_p.C221C	NM_197960.2	NP_932064.1	Q6V1X1	DPP8_HUMAN	dipeptidyl-peptidase 8	221					immune response (GO:0006955)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	dipeptidyl-peptidase activity (GO:0008239)|serine-type peptidase activity (GO:0008236)	p.C205C(1)		NS(1)|breast(2)|endometrium(3)|large_intestine(11)|lung(11)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						GATCAGCAGGGCATAATTTTG	0.383																																						ENST00000341861.5																			1	Substitution - coding silent(1)	p.C205C(1)	prostate(1)	NS(1)|breast(2)|endometrium(3)|large_intestine(11)|lung(11)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(661-663)tgC>tgT		dipeptidyl-peptidase 8							166	135	145					15																	65790302		2201	4299	6500	SO:0001819	synonymous_variant	54878				immune response|proteolysis	cytoplasm|membrane|nucleus	aminopeptidase activity|dipeptidyl-peptidase activity|serine-type peptidase activity	g.chr15:65790302G>A	AF221634	CCDS10207.1, CCDS10208.1, CCDS10209.1, CCDS10210.1	15q22	2008-07-18	2006-01-12		ENSG00000074603	ENSG00000074603			16490	protein-coding gene	gene with protein product	"dipeptidyl peptidase VIII", "dipeptidyl peptidase IV-related protein-1", "prolyl dipeptidase DPP8"	606819	"dipeptidylpeptidase 8"			11012666	Standard	XM_005254500		Approved	DP8, DPRP1, MSTP141, FLJ14920, FLJ20283, MGC26191	uc002aox.3	Q6V1X1	OTTHUMG00000133150	ENST00000341861.5:c.663C>T	15.37:g.65790302G>A						DPP8_ENST00000559233.1_Silent_p.C221C|DPP8_ENST00000358939.4_Silent_p.C205C|DPP8_ENST00000339244.5_Silent_p.C221C|DPP8_ENST00000321118.7_Silent_p.C221C|DPP8_ENST00000321147.6_Silent_p.C221C|DPP8_ENST00000300141.6_Silent_p.C205C	p.C221C	NM_197960.2	NP_932064.1	Q6V1X1	DPP8_HUMAN			5	2243	-			221					Q7Z4C8|Q7Z4D3|Q7Z4E1|Q8IWG7|Q8NEM5|Q96JX1|Q9HBM2|Q9HBM3|Q9HBM4|Q9HBM5|Q9NXF4	Silent	SNP	ENST00000341861.5	37	c.663C>T	CCDS10207.1																																																																																				0.383	DPP8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256847.1	NM_017743		4	154	0	0	0	1	0	4	154					A	65790302	G	A	65790302	2	1	68	1	0	0	0	0	0	0	0	1	4732	1195	42	3		3	DPP8	15	65790302	Silent	SNP	G	TCGA-EJ-5521-01A-01D-1576-08	17210033	65790302	36741090	52	3556											
KIF23	9493	broad.mit.edu	37	chr15	69708370	69708370	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggaaacctaccgtgaaaaaaGggtcccaaacgaaccttaaa	18	5	8	10	2	0	1	0	1	0	0	1	3	1	2	4	2	4	0	4	2	9	2			TCGA-EJ-5521-01A-01D-1576-08	TCGA-EJ-5521-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71f9ca33-4f59-47fa-98b2-6074451c14a4	6d784e6d-e22b-41f0-9ea2-154445f6fe64	g.chr15:69708370G>A	ENST00000260363.4	+	2	166	c.49G>A	c.(49-51)Ggg>Agg	p.G17R	KIF23_ENST00000559279.1_Missense_Mutation_p.G17R|KIF23_ENST00000352331.4_Missense_Mutation_p.G17R|RP11-253M7.1_ENST00000558107.1_RNA|RP11-253M7.1_ENST00000558617.1_RNA|RP11-253M7.1_ENST00000560539.1_RNA|KIF23_ENST00000395392.2_Missense_Mutation_p.G17R	NM_138555.2	NP_612565.1	Q02241	KIF23_HUMAN	kinesin family member 23	17					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cytokinesis (GO:0000910)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic spindle elongation (GO:0000022)|positive regulation of cytokinesis (GO:0032467)|spindle midzone assembly involved in mitosis (GO:0051256)	centralspindlin complex (GO:0097149)|centrosome (GO:0005813)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|intercellular bridge (GO:0045171)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|midbody (GO:0030496)|mitotic spindle (GO:0072686)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule binding (GO:0008017)|microtubule motor activity (GO:0003777)	p.G17R(2)		central_nervous_system(1)|endometrium(4)|large_intestine(7)|lung(6)|prostate(2)|skin(1)	21						CGTGAAAAAAGGGTCCCAAAC	0.378																																						ENST00000260363.4																			2	Substitution - Missense(2)	p.G17R(2)	prostate(2)	central_nervous_system(1)|endometrium(4)|large_intestine(7)|lung(6)|prostate(2)|skin(1)	21						c.(49-51)Ggg>Agg		kinesin family member 23							81	82	82					15																	69708370		2199	4298	6497	SO:0001583	missense	9493				blood coagulation|cytokinesis|microtubule-based movement|mitosis|mitotic spindle elongation	cytosol|kinesin complex|microtubule|midbody|nucleoplasm|spindle	ATP binding|microtubule motor activity|protein binding	g.chr15:69708370G>A	X67155	CCDS32278.1, CCDS32279.1	15q23	2008-03-03	2003-01-13	2003-01-17		ENSG00000137807		"Kinesins"	6392	protein-coding gene	gene with protein product		605064	"kinesin-like 5 (mitotic kinesin-like protein 1)"	KNSL5		1406973	Standard	NM_138555		Approved	MKLP1, MKLP-1	uc002asb.3	Q02241		ENST00000260363.4:c.49G>A	15.37:g.69708370G>A	ENSP00000260363:p.Gly17Arg					KIF23_ENST00000559279.1_Missense_Mutation_p.G17R|KIF23_ENST00000395392.2_Missense_Mutation_p.G17R|KIF23_ENST00000352331.4_Missense_Mutation_p.G17R	p.G17R	NM_138555.2	NP_612565.1	Q02241	KIF23_HUMAN			2	166	+			17			Kinesin-motor.		Q8WVP0	Missense_Mutation	SNP	ENST00000260363.4	37	c.49G>A	CCDS32278.1	.	.	.	.	.	.	.	.	.	.	G	10.94	1.492784	0.26774	.	.	ENSG00000137807	ENST00000260363;ENST00000352331;ENST00000395392	T;T;T	0.73789	-0.78;-0.76;-0.78	4.74	4.74	0.60224	.	0.139228	0.47455	D	0.000234	T	0.63414	0.2509	N	0.11201	0.11	0.80722	D	1	D;B	0.53745	0.962;0.04	P;B	0.49999	0.628;0.005	T	0.63994	-0.6511	10	0.29301	T	0.29	.	13.5636	0.61804	0.0:0.0:1.0:0.0	.	17;17	Q02241-2;Q02241	.;KIF23_HUMAN	R	17	ENSP00000260363:G17R;ENSP00000304978:G17R;ENSP00000378790:G17R	ENSP00000260363:G17R	G	+	1	0	KIF23	67495424	1.000000	0.71417	1.000000	0.80357	0.464000	0.32679	1.659000	0.37387	2.342000	0.79632	0.491000	0.48974	GGG		0.378	KIF23-201	KNOWN	basic|CCDS	protein_coding	protein_coding				3	42	0	0	0	1	0	3	42					A	69708370	G	A	69708370	3	1	68	1	0	0	0	0	1	0	0	0	8291	1000	35	3	55	3	KIF23	15	69708370	Missense_Mutation	SNP	G	TCGA-EJ-5521-01A-01D-1576-08	3918068	69708370	32823022	53	3557											
GP2	2813	broad.mit.edu	37	chr16	20335248	20335248	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccagaaacagcagttgccaCtccaatgggcacaggcagtg	12	6	11	12	0	0	1	0	0	0	1	2	1	2	1	3	2	3	4	3	2	2	1			TCGA-EJ-5521-01A-01D-1576-08	TCGA-EJ-5521-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71f9ca33-4f59-47fa-98b2-6074451c14a4	6d784e6d-e22b-41f0-9ea2-154445f6fe64	g.chr16:20335248C>A	ENST00000381362.4	-	3	501	c.425G>T	c.(424-426)aGt>aTt	p.S142I	GP2_ENST00000573897.1_5'Flank|GP2_ENST00000381360.5_Intron|GP2_ENST00000341642.5_Intron|GP2_ENST00000302555.5_Missense_Mutation_p.S142I	NM_001007240.1|NM_001502.2	NP_001007241.2|NP_001493.2	P55259	GP2_HUMAN	glycoprotein 2 (zymogen granule membrane)	142					antigen transcytosis by M cells in mucosal-associated lymphoid tissue (GO:0002412)	anchored component of membrane (GO:0031225)|apical plasma membrane (GO:0016324)|extracellular vesicular exosome (GO:0070062)	antigen binding (GO:0003823)	p.S142I(2)		breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						GCAGTTGCCACTCCAATGGGC	0.592																																						ENST00000302555.5																			2	Substitution - Missense(2)	p.S142I(2)	prostate(2)	breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						c.(424-426)aGt>aTt		glycoprotein 2 (zymogen granule membrane)							69	57	61					16																	20335248		2203	4300	6503	SO:0001583	missense	2813					anchored to membrane|extracellular region|plasma membrane		g.chr16:20335248C>A	U36221	CCDS10582.2, CCDS42128.1, CCDS45432.1, CCDS45433.1	16p12.3	2008-02-05			ENSG00000169347	ENSG00000169347			4441	protein-coding gene	gene with protein product		602977				9605860	Standard	XM_005255259		Approved		uc002dgw.3	P55259	OTTHUMG00000131489	ENST00000381362.4:c.425G>T	16.37:g.20335248C>A	ENSP00000370767:p.Ser142Ile					GP2_ENST00000381360.5_Intron|GP2_ENST00000381362.4_Missense_Mutation_p.S142I|GP2_ENST00000341642.5_Intron	p.S142I			P55259	GP2_HUMAN			3	574	-			142					A6NFM9|A6NJA8|Q13338|Q9UIF1	Missense_Mutation	SNP	ENST00000381362.4	37	c.425G>T	CCDS42128.1	.	.	.	.	.	.	.	.	.	.	C	11.90	1.776046	0.31411	.	.	ENSG00000169347	ENST00000302555;ENST00000381362	D;D	0.95554	-3.74;-3.74	4.84	0.569	0.17340	.	.	.	.	.	D	0.95092	0.8410	M	0.87682	2.9	0.09310	N	1	P;P	0.48016	0.85;0.904	B;P	0.46362	0.424;0.514	D	0.88718	0.3227	9	0.59425	D	0.04	-5.2599	4.3262	0.11041	0.1524:0.3096:0.4471:0.0909	.	142;142	P55259-3;P55259	.;GP2_HUMAN	I	142	ENSP00000304044:S142I;ENSP00000370767:S142I	ENSP00000304044:S142I	S	-	2	0	GP2	20242749	0.012000	0.17670	0.025000	0.17156	0.263000	0.26337	0.118000	0.15605	-0.029000	0.13827	0.650000	0.86243	AGT		0.592	GP2-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000436920.1	NM_016295		3	83	1	0	1	1	1	3	83					A	20335248	C	A	20335248	3	1	68	1	0	0	0	0	1	0	0	0	6582	565	20	5	1228	5	GP2	16	20335248	Missense_Mutation	SNP	C	TCGA-EJ-5521-01A-01D-1576-08		20335248	70019505	54	3558											
CDH16	1014	broad.mit.edu	37	chr16	66947138	66947138	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgtgcagctccagaggggccGcatagtcctcgccatgggaa	8	6	14	13	3	0	1	0	0	0	1	3	2	2	2	4	3	2	3	4	3	2	1	rs377681344	byFrequency	TCGA-EJ-5521-01A-01D-1576-08	TCGA-EJ-5521-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71f9ca33-4f59-47fa-98b2-6074451c14a4	6d784e6d-e22b-41f0-9ea2-154445f6fe64	g.chr16:66947138G>A	ENST00000299752.4	-	9	1143	c.950C>T	c.(949-951)gCg>gTg	p.A317V	CDH16_ENST00000568632.1_Missense_Mutation_p.A220V|CDH16_ENST00000394055.3_Missense_Mutation_p.A317V|CDH16_ENST00000570262.1_Missense_Mutation_p.A237V|CDH16_ENST00000565796.1_Missense_Mutation_p.A317V	NM_001204744.1|NM_001204745.1|NM_004062.3	NP_001191673.1|NP_001191674.1|NP_004053.1	O75309	CAD16_HUMAN	cadherin 16, KSP-cadherin	317	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)	basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)	p.A317V(1)		endometrium(1)|kidney(3)|large_intestine(10)|lung(15)|ovary(2)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0877)|Epithelial(162;0.203)		CAGAGGGGCCGCATAGTCCTC	0.622													G|||	2	0.000399361	0	0	5008	,	,		17670	0.002		0	False		,,,				2504	0					ENST00000299752.4																			1	Substitution - Missense(1)	p.A317V(1)	prostate(1)	endometrium(1)|kidney(3)|large_intestine(10)|lung(15)|ovary(2)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						c.(949-951)gCg>gTg		cadherin 16, KSP-cadherin		G	VAL/ALA,VAL/ALA,VAL/ALA,VAL/ALA	1,4399	2.1+/-5.4	0,1,2199	104	98	100		950,950,659,950	3.2	0	16		100	0,8600		0,0,4300	no	missense,missense,missense,missense	CDH16	NM_001204744.1,NM_001204745.1,NM_001204746.1,NM_004062.3	64,64,64,64	0,1,6499	AA,AG,GG		0.0,0.0227,0.0077	benign,benign,benign,benign	317/808,317/791,220/733,317/830	66947138	1,12999	2200	4300	6500	SO:0001583	missense	1014				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr16:66947138G>A	AF016272	CCDS10823.1, CCDS56002.1, CCDS58471.1, CCDS58472.1	16q22.1	2010-01-26			ENSG00000166589	ENSG00000166589		"Cadherins / Major cadherins"	1755	protein-coding gene	gene with protein product		603118				9721215, 7615566	Standard	NM_004062		Approved		uc002eql.3	O75309	OTTHUMG00000137518	ENST00000299752.4:c.950C>T	16.37:g.66947138G>A	ENSP00000299752:p.Ala317Val					CDH16_ENST00000565796.1_Missense_Mutation_p.A317V|CDH16_ENST00000570262.1_Missense_Mutation_p.A237V|CDH16_ENST00000568632.1_Missense_Mutation_p.A220V|CDH16_ENST00000394055.3_Missense_Mutation_p.A317V	p.A317V	NM_001204744.1|NM_001204745.1|NM_004062.3	NP_001191673.1|NP_001191674.1|NP_004053.1	O75309	CAD16_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0877)|Epithelial(162;0.203)	9	1143	-		Ovarian(137;0.0563)	317			Cadherin 3.		B4DPA8|H3BPD3|Q6UW93	Missense_Mutation	SNP	ENST00000299752.4	37	c.950C>T	CCDS10823.1	.	.	.	.	.	.	.	.	.	.	G	10.12	1.261961	0.23051	2.27E-4	0.0	ENSG00000166589	ENST00000394055;ENST00000299752;ENST00000544875	T;T	0.51817	0.69;0.69	5.29	3.2	0.36748	Cadherin (4);Cadherin-like (1);	0.377447	0.25552	N	0.029881	T	0.54711	0.1875	M	0.76574	2.34	0.09310	N	0.999998	P;P;D	0.54601	0.93;0.929;0.967	B;B;P	0.51999	0.307;0.355;0.687	T	0.50197	-0.8856	10	0.66056	D	0.02	-2.9976	7.8555	0.29480	0.0923:0.1635:0.7442:0.0	.	317;317;317	O75309-2;B2R7S8;O75309	.;.;CAD16_HUMAN	V	317;317;281	ENSP00000377619:A317V;ENSP00000299752:A317V	ENSP00000299752:A317V	A	-	2	0	CDH16	65504639	0.001000	0.12720	0.005000	0.12908	0.002000	0.02628	0.990000	0.29642	1.366000	0.46076	0.655000	0.94253	GCG		0.622	CDH16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268839.2	NM_004062		5	173	0	0	0	1	0	5	173					A	66947138	G	A	66947138	3	1	68	1	0	0	0	0	1	0	0	0	3101	1087	38	1	1579	1	CDH16	16	66947138	Missense_Mutation	SNP	G	TCGA-EJ-5521-01A-01D-1576-08	46611890	66947138	23407615	55	3559											
TP53	7157	broad.mit.edu	37	chr17	7577548	7577548	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgggcctccggttcatgcCgcccatgcaggaactgttac	7	9	12	13	2	1	0	1	0	0	0	2	2	2	1	4	3	4	3	4	3	2	2	rs28934575|rs397516437		TCGA-EJ-5521-01A-01D-1576-08	TCGA-EJ-5521-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71f9ca33-4f59-47fa-98b2-6074451c14a4	6d784e6d-e22b-41f0-9ea2-154445f6fe64	g.chr17:7577548C>T	ENST00000269305.4	-	7	922	c.733G>A	c.(733-735)Ggc>Agc	p.G245S	TP53_ENST00000359597.4_Missense_Mutation_p.G245S|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000413465.2_Missense_Mutation_p.G245S|TP53_ENST00000420246.2_Missense_Mutation_p.G245S|TP53_ENST00000445888.2_Missense_Mutation_p.G245S|TP53_ENST00000455263.2_Missense_Mutation_p.G245S	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	245	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Interacts with the 53BP2 SH3 domain.|Required for interaction with ZNF385A.		G -> A (in sporadic cancers; somatic mutation).|G -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:1978757}.|G -> D (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:2259385}.|G -> E (in a sporadic cancer; somatic mutation).|G -> F (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> H (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|G -> L (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> N (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> R (in sporadic cancers; somatic mutation).|G -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934575). {ECO:0000269|PubMed:8829627}.|G -> V (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:2263646}.		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.G245S(304)|p.G245C(59)|p.G245R(10)|p.G152S(8)|p.0?(8)|p.?(5)|p.G152C(4)|p.G244_M246>V(3)|p.G245N(2)|p.G245fs*2(2)|p.G245H(1)|p.G245L(1)|p.G244fs*17(1)|p.G245F(1)|p.C242_M246>L(1)|p.C238_M246delCNSSCMGGM(1)|p.G245fs*22(1)|p.S241_G245delSCMGG(1)|p.C242fs*98(1)|p.M243fs*18(1)|p.G151_M153>V(1)|p.G245del(1)|p.G245fs*14(1)|p.G245fs*17(1)|p.G245fs*16(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	CGGTTCATGCCGCCCATGCAG	0.577	G245S(LS1034_LARGE_INTESTINE)|G245S(NUGC2_STOMACH)|G245S(PANC0403_PANCREAS)|G245S(SKLMS1_SOFT_TISSUE)|G245S(SKMEL2_SKIN)	111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2	G245S(LS1034_LARGE_INTESTINE)|G245S(NUGC2_STOMACH)|G245S(PANC0403_PANCREAS)|G245S(SKLMS1_SOFT_TISSUE)|G245S(SKMEL2_SKIN)	111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"Mis, N, F"	tumor protein p53			"L, E, M, O"		"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"	"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"		420	Substitution - Missense(390)|Deletion - Frameshift(8)|Whole gene deletion(8)|Complex - deletion inframe(5)|Unknown(5)|Deletion - In frame(3)|Insertion - Frameshift(1)	p.G245S(304)|p.G245C(59)|p.G245R(10)|p.G152S(8)|p.0?(8)|p.?(5)|p.G152C(4)|p.G244_M246>V(3)|p.G245N(2)|p.G245fs*2(2)|p.G245H(1)|p.G245L(1)|p.G244fs*17(1)|p.G245F(1)|p.C242_M246>L(1)|p.C238_M246delCNSSCMGGM(1)|p.G245fs*22(1)|p.S241_G245delSCMGG(1)|p.C242fs*98(1)|p.M243fs*18(1)|p.G151_M153>V(1)|p.G245del(1)|p.G245fs*14(1)|p.G245fs*17(1)|p.G245fs*16(1)	large_intestine(119)|lung(51)|breast(38)|ovary(29)|central_nervous_system(27)|upper_aerodigestive_tract(25)|stomach(25)|haematopoietic_and_lymphoid_tissue(23)|oesophagus(22)|urinary_tract(14)|skin(9)|liver(7)|prostate(7)|biliary_tract(5)|bone(5)|pancreas(4)|soft_tissue(3)|vulva(2)|endometrium(2)|kidney(1)|cervix(1)|salivary_gland(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185	GRCh37	CM010463|CM900210|CM920674	TP53	M	rs28934575	c.(733-735)Ggc>Agc	Other conserved DNA damage response genes	tumor protein p53		C	SER/GLY,SER/GLY,SER/GLY,SER/GLY,SER/GLY,SER/GLY,SER/GLY	0,4406		0,0,2203	149	112	125	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	733,733,733,733,337,337,337	4.6	1	17	dbSNP_125	125	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense,missense,missense,missense	TP53	NM_000546.4,NM_001126112.1,NM_001126113.1,NM_001126114.1,NM_001126115.1,NM_001126116.1,NM_001126117.1	56,56,56,56,56,56,56	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	245/394,245/394,245/347,245/342,113/262,113/210,113/215	7577548	1,13005	2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577548C>T	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"Li-Fraumeni syndrome"	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.733G>A	17.37:g.7577548C>T	ENSP00000269305:p.Gly245Ser	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_ENST00000413465.2_Missense_Mutation_p.G245S|TP53_ENST00000359597.4_Missense_Mutation_p.G245S|TP53_ENST00000445888.2_Missense_Mutation_p.G245S|TP53_ENST00000269305.4_Missense_Mutation_p.G245S|TP53_ENST00000455263.2_Missense_Mutation_p.G245S	p.G245S	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	7	865	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	245		G -> A (in sporadic cancers; somatic mutation).|G -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|G -> D (in LFS; germline mutation and in sporadic cancers; somatic mutation).|G -> E (in a sporadic cancer; somatic mutation).|G -> F (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> H (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|G -> L (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> N (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> R (in sporadic cancers; somatic mutation).|G -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934575).|G -> V (in LFS; germline mutation and in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.733G>A	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	33	5.259904	0.95368	0.0	1.16E-4	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99894	-7.58;-7.58;-7.58;-7.58;-7.58;-7.58;-7.58;-7.58	4.62	4.62	0.57501	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99878	0.9942	M	0.84585	2.705	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;0.999;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	0.999;0.976;0.992;0.999;0.999;1.0	D	0.96039	0.9023	10	0.87932	D	0	-19.4293	15.3618	0.74483	0.0:1.0:0.0:0.0	rs28934575	245;245;152;245;245;245	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	S	245;245;245;245;245;245;234;152;113;152	ENSP00000410739:G245S;ENSP00000352610:G245S;ENSP00000269305:G245S;ENSP00000398846:G245S;ENSP00000391127:G245S;ENSP00000391478:G245S;ENSP00000425104:G113S;ENSP00000423862:G152S	ENSP00000269305:G245S	G	-	1	0	TP53	7518273	1.000000	0.71417	0.965000	0.40720	0.974000	0.67602	7.609000	0.82925	2.564000	0.86499	0.462000	0.41574	GGC		0.577	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		12	49	0	0	0	1	0	12	49					T	7577548	C	T	7577548	3	4	68	1	0	0	0	0	1	0	0	0	16378	652	23	2	557	2	TP53	17	7577548	Missense_Mutation	SNP	C	TCGA-EJ-5521-01A-01D-1576-08		7577548	73617662	56	3560											
TOM1L1	10040	broad.mit.edu	37	chr17	53007460	53007460	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tataaaacaggtcgggagatGcaggagaggatcatggacct	14	7	14	6	1	1	2	1	0	0	2	2	6	1	4	1	5	2	1	1	5	3	2			TCGA-EJ-5521-01A-01D-1576-08	TCGA-EJ-5521-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71f9ca33-4f59-47fa-98b2-6074451c14a4	6d784e6d-e22b-41f0-9ea2-154445f6fe64	g.chr17:53007460G>T	ENST00000575882.1	+	8	1100	c.747G>T	c.(745-747)atG>atT	p.M249I	TOM1L1_ENST00000445275.2_Missense_Mutation_p.M249I|TOM1L1_ENST00000572158.1_Missense_Mutation_p.M242I|TOM1L1_ENST00000575333.1_Missense_Mutation_p.M249I|TOM1L1_ENST00000536554.1_Missense_Mutation_p.M172I|TOM1L1_ENST00000570371.1_Missense_Mutation_p.M249I|TOM1L1_ENST00000540336.1_Missense_Mutation_p.M137I|TOM1L1_ENST00000348161.4_Missense_Mutation_p.M172I	NM_005486.2	NP_005477.2	O75674	TM1L1_HUMAN	target of myb1 (chicken)-like 1	249	GAT. {ECO:0000255|PROSITE- ProRule:PRU00373}.				activation of protein kinase activity (GO:0032147)|intracellular protein transport (GO:0006886)|negative regulation of mitosis (GO:0045839)|positive regulation of protein autophosphorylation (GO:0031954)|signal transduction (GO:0007165)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|lysosome (GO:0005764)|membrane (GO:0016020)	clathrin binding (GO:0030276)|protein kinase activator activity (GO:0030295)|protein kinase binding (GO:0019901)|ubiquitin binding (GO:0043130)	p.M249I(1)		cervix(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(1)	15						GTCGGGAGATGCAGGAGAGGA	0.418																																						ENST00000575882.1																			1	Substitution - Missense(1)	p.M249I(1)	prostate(1)	cervix(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(1)	15						c.(745-747)atG>atT		target of myb1 (chicken)-like 1							201	178	186					17																	53007460		2203	4300	6503	SO:0001583	missense	10040				intracellular protein transport|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway	cytosol|endosome membrane|Golgi stack|lysosome	SH3 domain binding|ubiquitin binding	g.chr17:53007460G>T	AJ010071	CCDS11582.1	17q23.2	2008-01-03	2007-01-12			ENSG00000141198			11983	protein-coding gene	gene with protein product		604701	"target of myb1 (chicken) homolog-like 1"			10329004, 15611048, 17977829	Standard	NM_005486		Approved	SRCASM	uc002iud.2	O75674		ENST00000575882.1:c.747G>T	17.37:g.53007460G>T	ENSP00000460823:p.Met249Ile					TOM1L1_ENST00000348161.4_Missense_Mutation_p.M172I|TOM1L1_ENST00000540336.1_Missense_Mutation_p.M137I|TOM1L1_ENST00000536554.1_Missense_Mutation_p.M172I|TOM1L1_ENST00000570371.1_Missense_Mutation_p.M249I|TOM1L1_ENST00000572158.1_Missense_Mutation_p.M242I|TOM1L1_ENST00000445275.2_Missense_Mutation_p.M249I|TOM1L1_ENST00000575333.1_Missense_Mutation_p.M249I	p.M249I	NM_005486.2	NP_005477.2	O75674	TM1L1_HUMAN			8	1100	+			249			GAT.		Q53G06|Q8N749	Missense_Mutation	SNP	ENST00000575882.1	37	c.747G>T	CCDS11582.1	.	.	.	.	.	.	.	.	.	.	G	19.21	3.783638	0.70222	.	.	ENSG00000141198	ENST00000445275;ENST00000540336;ENST00000348161;ENST00000536554	T;T;T;T	0.50277	0.75;0.75;0.75;0.75	5.07	4.1	0.47936	GAT (2);	0.000000	0.85682	D	0.000000	T	0.68531	0.3011	M	0.83118	2.625	0.49798	D	0.999825	D;B;B;B;B	0.89917	1.0;0.124;0.041;0.124;0.295	D;B;B;B;B	0.97110	1.0;0.098;0.062;0.219;0.087	T	0.71932	-0.4443	10	0.54805	T	0.06	-12.5811	11.5199	0.50545	0.0865:0.0:0.9135:0.0	.	137;242;172;249;249	B4DUW5;B4E1N0;B7Z9E2;O75674;Q8N749	.;.;.;TM1L1_HUMAN;.	I	249;137;172;172	ENSP00000408958:M249I;ENSP00000441242:M137I;ENSP00000343901:M172I;ENSP00000443099:M172I	ENSP00000343901:M172I	M	+	3	0	TOM1L1	50362459	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	4.526000	0.60566	1.361000	0.45981	-0.244000	0.11960	ATG		0.418	TOM1L1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000439029.2	NM_005486		29	111	1	0	7.26314e-15	1	8.18382e-15	29	111					T	53007460	G	T	53007460	3	4	68	1	0	0	0	0	1	0	0	0	16349	1319	46	5	777	5	TOM1L1	17	53007460	Missense_Mutation	SNP	G	TCGA-EJ-5521-01A-01D-1576-08	45429912	53007460	28187750	57	3561											
EPB41L3	23136	broad.mit.edu	37	chr18	5397388	5397388	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtggtgcacggtgggttccGtctctattccactggactcc	4	12	13	12	2	1	0	0	0	1	0	5	1	4	1	3	5	1	2	3	5	1	3	rs143141379		TCGA-EJ-5521-01A-01D-1576-08	TCGA-EJ-5521-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71f9ca33-4f59-47fa-98b2-6074451c14a4	6d784e6d-e22b-41f0-9ea2-154445f6fe64	g.chr18:5397388G>A	ENST00000341928.2	-	18	2850	c.2510C>T	c.(2509-2511)aCg>aTg	p.T837M	EPB41L3_ENST00000542146.1_Missense_Mutation_p.T142M|EPB41L3_ENST00000427684.2_Missense_Mutation_p.T134M|EPB41L3_ENST00000542652.2_5'UTR|EPB41L3_ENST00000342933.3_Missense_Mutation_p.T837M|EPB41L3_ENST00000540638.2_Missense_Mutation_p.T615M|EPB41L3_ENST00000544123.1_Missense_Mutation_p.T668M|EPB41L3_ENST00000400111.3_Missense_Mutation_p.T615M	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	837	Spectrin--actin-binding. {ECO:0000255}.				apoptotic process (GO:0006915)|cortical actin cytoskeleton organization (GO:0030866)|cortical cytoskeleton organization (GO:0030865)|cytoskeletal anchoring at plasma membrane (GO:0007016)|myelin maintenance (GO:0043217)|neuron projection morphogenesis (GO:0048812)|paranodal junction assembly (GO:0030913)|protein localization to juxtaparanode region of axon (GO:0071205)|protein localization to paranode region of axon (GO:0002175)|protein localization to plasma membrane (GO:0072659)|regulation of cell shape (GO:0008360)	axolemma (GO:0030673)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)|juxtaparanode region of axon (GO:0044224)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)	p.T837M(1)		breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						GGTGGGTTCCGTCTCTATTCC	0.542																																						ENST00000341928.2																			1	Substitution - Missense(1)	p.T837M(1)	prostate(1)	breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						c.(2509-2511)aCg>aTg		erythrocyte membrane protein band 4.1-like 3		G	MET/THR	1,4405	2.1+/-5.4	0,1,2202	63	66	65		2510	1.7	0	18	dbSNP_134	65	1,8599	1.2+/-3.3	0,1,4299	yes	missense	EPB41L3	NM_012307.2	81	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	benign	837/1088	5397388	2,13004	2203	4300	6503	SO:0001583	missense	23136				cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity	g.chr18:5397388G>A	AB023204	CCDS11838.1, CCDS62381.1, CCDS62382.1	18p11.32	2006-06-28			ENSG00000082397	ENSG00000082397			3380	protein-coding gene	gene with protein product		605331				9828140, 9892180	Standard	NM_012307		Approved	DAL1, KIAA0987, 4.1B	uc002kmt.1	Q9Y2J2	OTTHUMG00000131562	ENST00000341928.2:c.2510C>T	18.37:g.5397388G>A	ENSP00000343158:p.Thr837Met					EPB41L3_ENST00000400111.3_Missense_Mutation_p.T615M|EPB41L3_ENST00000544123.1_Missense_Mutation_p.T668M|EPB41L3_ENST00000342933.3_Missense_Mutation_p.T837M|EPB41L3_ENST00000542146.1_Missense_Mutation_p.T142M|EPB41L3_ENST00000427684.2_Missense_Mutation_p.T134M|EPB41L3_ENST00000540638.2_Missense_Mutation_p.T615M|EPB41L3_ENST00000542652.2_5'UTR	p.T837M	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN			18	2850	-			837			Spectrin--actin-binding (Potential).		B7Z4I5|F5GX05|O95713|Q9BRP5	Missense_Mutation	SNP	ENST00000341928.2	37	c.2510C>T	CCDS11838.1	.	.	.	.	.	.	.	.	.	.	G	6.150	0.395853	0.11638	2.27E-4	1.16E-4	ENSG00000082397	ENST00000341928;ENST00000540638;ENST00000544123;ENST00000545076;ENST00000427684;ENST00000542146;ENST00000342933;ENST00000400111	T;D;T;T;T;D	0.82619	-1.46;-1.63;-0.09;-0.1;-1.46;-1.63	5.83	1.67	0.24075	.	1.351790	0.04262	N	0.340448	T	0.81254	0.4784	L	0.34521	1.04	0.09310	N	1	P;D;D;P;B;P;P;P	0.58970	0.811;0.984;0.96;0.809;0.008;0.755;0.493;0.932	B;P;P;B;B;B;B;B	0.54100	0.273;0.592;0.742;0.336;0.001;0.265;0.097;0.315	T	0.67852	-0.5563	10	0.48119	T	0.1	.	3.4409	0.07463	0.2834:0.0:0.4541:0.2625	.	668;134;142;229;506;615;837;72	F5GX05;E7EUF8;F5H7W5;B7Z8M8;A8K968;Q9Y2J2-2;Q9Y2J2;B3KT50	.;.;.;.;.;.;E41L3_HUMAN;.	M	837;506;668;506;134;142;837;615	ENSP00000343158:T837M;ENSP00000441174:T668M;ENSP00000392195:T134M;ENSP00000442233:T142M;ENSP00000341138:T837M;ENSP00000382981:T615M	ENSP00000343158:T837M	T	-	2	0	EPB41L3	5387388	0.001000	0.12720	0.014000	0.15608	0.013000	0.08279	0.600000	0.24104	0.792000	0.33850	0.591000	0.81541	ACG		0.542	EPB41L3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254424.1	NM_012307		5	62	0	0	0	1	0	5	62					A	5397388	G	A	5397388	3	1	68	1	0	0	0	0	1	0	0	0	5154	1145	40	1	773	1	EPB41L3	18	5397388	Missense_Mutation	SNP	G	TCGA-EJ-5521-01A-01D-1576-08		5397388	72679860	58	3562											
DSEL	92126	broad.mit.edu	37	chr18	65179121	65179121	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgcccactgcggatatctgAcaccttccattcacaagcat	11	10	6	14	1	2	1	1	1	1	0	3	2	3	2	3	1	3	1	3	1	2	3			TCGA-EJ-5521-01A-01D-1576-08	TCGA-EJ-5521-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71f9ca33-4f59-47fa-98b2-6074451c14a4	6d784e6d-e22b-41f0-9ea2-154445f6fe64	g.chr18:65179121A>G	ENST00000310045.7	-	2	4228	c.2755T>C	c.(2755-2757)Tca>Cca	p.S919P	CTD-2541J13.2_ENST00000581951.1_RNA|CTD-2541J13.2_ENST00000583493.1_RNA	NM_032160.2	NP_115536.1	Q8IZU8	DSEL_HUMAN	dermatan sulfate epimerase-like	909					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	isomerase activity (GO:0016853)|sulfotransferase activity (GO:0008146)	p.S919P(1)		NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(25)|lung(23)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)				CGGATATCTGACACCTTCCAT	0.423																																						ENST00000310045.7																			1	Substitution - Missense(1)	p.S919P(1)	prostate(1)	NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(25)|lung(23)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	74						c.(2755-2757)Tca>Cca		dermatan sulfate epimerase-like							78	78	78					18																	65179121		2203	4300	6503	SO:0001583	missense	92126					integral to membrane	isomerase activity|sulfotransferase activity	g.chr18:65179121A>G	AF480435	CCDS11995.1	18q22.1	2007-01-29	2007-01-29	2007-01-29	ENSG00000171451	ENSG00000171451			18144	protein-coding gene	gene with protein product		611125	"chromosome 18 open reading frame 4"	C18orf4		16505484	Standard	NM_032160		Approved	NCAG1, FLJ11477	uc002lke.1	Q8IZU8	OTTHUMG00000132804	ENST00000310045.7:c.2755T>C	18.37:g.65179121A>G	ENSP00000310565:p.Ser919Pro					CTD-2541J13.2_ENST00000583493.1_RNA	p.S919P	NM_032160.2	NP_115536.1	Q8IZU8	DSEL_HUMAN			2	4228	-		Esophageal squamous(42;0.129)	909					Q17RH1|Q6P5Z3	Missense_Mutation	SNP	ENST00000310045.7	37	c.2755T>C	CCDS11995.1	.	.	.	.	.	.	.	.	.	.	A	13.73	2.323675	0.41096	.	.	ENSG00000171451	ENST00000310045;ENST00000397964	T	0.19532	2.14	5.13	1.26	0.21427	Sulfotransferase domain (1);	0.901578	0.09527	N	0.790135	T	0.21801	0.0525	L	0.54323	1.7	0.09310	N	1	P	0.47484	0.896	P	0.45377	0.478	T	0.17167	-1.0378	10	0.56958	D	0.05	-2.7642	3.4752	0.07582	0.6492:0.1414:0.0741:0.1354	.	909	Q8IZU8	DSEL_HUMAN	P	919;909	ENSP00000310565:S919P	ENSP00000310565:S919P	S	-	1	0	DSEL	63330101	0.176000	0.23096	0.004000	0.12327	0.972000	0.66771	0.849000	0.27723	0.233000	0.21120	0.460000	0.39030	TCA		0.423	DSEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256221.1	NM_032160		5	138	0	0	0	1	0	5	138					G	65179121	A	G	65179121	3	3	68	1	0	0	0	0	1	0	0	0	4775	275	10	4	917	4	DSEL	18	65179121	Missense_Mutation	SNP	A	TCGA-EJ-5521-01A-01D-1576-08	59781733	65179121	12898127	59	3563											
PRR22	163154	broad.mit.edu	37	chr19	5784048	5784048	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggtcgaagaagcacccgcaTggggccatctggaaacctgt	10	6	14	11	2	1	1	0	0	1	1	2	3	1	2	3	4	2	2	3	4	3	0			TCGA-EJ-5521-01A-01D-1576-08	TCGA-EJ-5521-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71f9ca33-4f59-47fa-98b2-6074451c14a4	6d784e6d-e22b-41f0-9ea2-154445f6fe64	g.chr19:5784048T>C	ENST00000419421.2	-	3	314	c.210A>G	c.(208-210)ccA>ccG	p.P70P	CTB-54O9.9_ENST00000586012.1_3'UTR	NM_001134316.1	NP_001127788.1	Q8IZ63	PRR22_HUMAN	proline rich 22	70								p.P68P(1)		endometrium(2)|large_intestine(1)|prostate(1)|urinary_tract(1)	5						AGCACCCGCATGGGGCCATCT	0.677																																						ENST00000419421.2																			1	Substitution - coding silent(1)	p.P68P(1)	prostate(1)	endometrium(2)|large_intestine(1)|prostate(1)|urinary_tract(1)	5						c.(208-210)ccA>ccG		proline rich 22							23	31	28					19																	5784048		2175	4278	6453	SO:0001819	synonymous_variant	163154							g.chr19:5784048T>C	BC023278	CCDS45933.1	19p13.3	2012-12-20			ENSG00000212123	ENSG00000212123			28354	protein-coding gene	gene with protein product						12477932	Standard	NM_001134316		Approved	MGC24975	uc010xiv.1	Q8IZ63	OTTHUMG00000180553	ENST00000419421.2:c.210A>G	19.37:g.5784048T>C						CTB-54O9.9_ENST00000586012.1_3'UTR	p.P70P	NM_001134316.1	NP_001127788.1	Q8IZ63	PRR22_HUMAN			3	314	-			68					E9PB31	Silent	SNP	ENST00000419421.2	37	c.210A>G	CCDS45933.1																																																																																				0.677	PRR22-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368523.1	NM_153359		3	45	0	0	0	1	0	3	45					C	5784048	T	C	5784048	2	2	68	1	0	0	0	0	0	0	0	1	12593	1451	51	4		4	PRR22	19	5784048	Silent	SNP	T	TCGA-EJ-5521-01A-01D-1576-08		5784048	53344935	60	3564											
ICAM1	3383	broad.mit.edu	37	chr19	10394818	10394818	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttcccagtctcggaggcccaGgtccacctggcactggggga	6	7	14	14	1	1	0	0	0	1	0	4	2	3	2	4	6	0	1	4	6	0	1			TCGA-EJ-5521-01A-01D-1576-08	TCGA-EJ-5521-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71f9ca33-4f59-47fa-98b2-6074451c14a4	6d784e6d-e22b-41f0-9ea2-154445f6fe64	g.chr19:10394818G>A	ENST00000264832.3	+	4	1072	c.747G>A	c.(745-747)caG>caA	p.Q249Q	ICAM4_ENST00000393717.2_5'Flank|ICAM4_ENST00000340992.4_5'Flank|CTD-2369P2.5_ENST00000592893.1_RNA|ICAM1_ENST00000423829.2_Silent_p.Q27Q|ICAM4_ENST00000380770.3_5'Flank|CTD-2369P2.8_ENST00000589379.1_RNA	NM_000201.2	NP_000192.2	P05362	ICAM1_HUMAN	intercellular adhesion molecule 1	249	Ig-like C2-type 3.				adhesion of symbiont to host (GO:0044406)|cell adhesion (GO:0007155)|cell adhesion mediated by integrin (GO:0033627)|cell aging (GO:0007569)|cellular response to alkaloid (GO:0071312)|cellular response to glucose stimulus (GO:0071333)|cellular response to hypoxia (GO:0071456)|cellular response to interleukin-1 (GO:0071347)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to nutrient levels (GO:0031669)|cellular response to tumor necrosis factor (GO:0071356)|cytokine-mediated signaling pathway (GO:0019221)|establishment of endothelial barrier (GO:0061028)|extracellular matrix organization (GO:0030198)|heterophilic cell-cell adhesion (GO:0007157)|interferon-gamma-mediated signaling pathway (GO:0060333)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|membrane to membrane docking (GO:0022614)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|ovarian follicle development (GO:0001541)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cellular extravasation (GO:0002693)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of vasoconstriction (GO:0045907)|receptor-mediated virion attachment to host cell (GO:0046813)|regulation of cell adhesion (GO:0030155)|regulation of cell shape (GO:0008360)|regulation of immune response (GO:0050776)|regulation of leukocyte mediated cytotoxicity (GO:0001910)|regulation of ruffle assembly (GO:1900027)|response to amino acid (GO:0043200)|response to amphetamine (GO:0001975)|response to copper ion (GO:0046688)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to gonadotropin (GO:0034698)|response to ionizing radiation (GO:0010212)|response to organic cyclic compound (GO:0014070)|response to sulfur dioxide (GO:0010477)|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell (GO:0002291)|T cell antigen processing and presentation (GO:0002457)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|immunological synapse (GO:0001772)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)|virus receptor activity (GO:0001618)	p.Q249Q(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(20;1.39e-09)|Epithelial(33;2.81e-06)|all cancers(31;6.56e-06)		Hyaluronan(DB08818)|Natalizumab(DB00108)	CGGAGGCCCAGGTCCACCTGG	0.647																																						ENST00000264832.3																			1	Substitution - coding silent(1)	p.Q249Q(1)	prostate(1)	endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						c.(745-747)caG>caA		intercellular adhesion molecule 1	Natalizumab(DB00108)|Simvastatin(DB00641)						69	57	61					19																	10394818		2203	4300	6503	SO:0001819	synonymous_variant	3383				adhesion to symbiont|heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|membrane to membrane docking|positive regulation of cellular extravasation|regulation of immune response|regulation of leukocyte mediated cytotoxicity|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell|virion attachment, binding of host cell surface receptor	extracellular space|integral to plasma membrane	integrin binding|transmembrane receptor activity	g.chr19:10394818G>A		CCDS12231.1	19p13.3-p13.2	2014-01-30	2008-07-18			ENSG00000090339		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Endogenous ligands"	5344	protein-coding gene	gene with protein product	"human rhinovirus receptor"	147840				2453850, 3871395	Standard	NM_000201		Approved	BB2, CD54	uc002mnq.2	P05362		ENST00000264832.3:c.747G>A	19.37:g.10394818G>A						CTD-2369P2.5_ENST00000592893.1_RNA|ICAM1_ENST00000423829.2_Silent_p.Q27Q	p.Q249Q	NM_000201.2	NP_000192.2	P05362	ICAM1_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;1.39e-09)|Epithelial(33;2.81e-06)|all cancers(31;6.56e-06)		4	1072	+			249			Ig-like C2-type 3.		B2R6M3|Q5NKV7|Q96B50	Silent	SNP	ENST00000264832.3	37	c.747G>A	CCDS12231.1																																																																																				0.647	ICAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451207.1			4	55	0	0	0	1	0	4	55					A	10394818	G	A	10394818	2	1	68	1	0	0	0	0	0	0	0	1	7479	991	35	3		3	ICAM1	19	10394818	Silent	SNP	G	TCGA-EJ-5521-01A-01D-1576-08	4610770	10394818	48734165	61	3565											
S1PR5	53637	broad.mit.edu	37	chr19	10625418	10625418	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cccgacagtaggatgttggcGgcgtaggcggcgcctgccag	6	6	17	12	5	0	0	0	0	0	0	0	2	0	1	3	5	1	3	3	5	2	3			TCGA-EJ-5521-01A-01D-1576-08	TCGA-EJ-5521-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71f9ca33-4f59-47fa-98b2-6074451c14a4	6d784e6d-e22b-41f0-9ea2-154445f6fe64	g.chr19:10625418G>A	ENST00000439028.3	-	2	395	c.270C>T	c.(268-270)gcC>gcT	p.A90A	S1PR5_ENST00000333430.4_Silent_p.A90A	NM_001166215.1	NP_001159687.1	Q9H228	S1PR5_HUMAN	sphingosine-1-phosphate receptor 5	90					regulation of neuron differentiation (GO:0045664)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sphingosine-1-phosphate receptor activity (GO:0038036)	p.A90A(1)		central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	12					Fingolimod(DB08868)	GGATGTTGGCGGCGTAGGCGG	0.672																																						ENST00000439028.3																			1	Substitution - coding silent(1)	p.A90A(1)	prostate(1)	central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	12						c.(268-270)gcC>gcT		sphingosine-1-phosphate receptor 5							21	21	21					19																	10625418		2196	4298	6494	SO:0001819	synonymous_variant	53637					integral to membrane|plasma membrane	lysosphingolipid and lysophosphatidic acid receptor activity	g.chr19:10625418G>A	AK074661	CCDS12240.1	19p13.2	2012-08-08	2008-04-30	2008-04-30		ENSG00000180739		"GPCR / Class A : Lysophospholipid receptors : Sphingosine 1-phosphate"	14299	protein-coding gene	gene with protein product		605146	"endothelial differentiation, sphingolipid G-protein-coupled receptor, 8"	EDG8		10799507	Standard	NM_030760		Approved	Edg-8	uc002mou.2	Q9H228		ENST00000439028.3:c.270C>T	19.37:g.10625418G>A						S1PR5_ENST00000333430.4_Silent_p.A90A	p.A90A	NM_001166215.1	NP_001159687.1	Q9H228	S1PR5_HUMAN			2	395	-			90					Q6NW11	Silent	SNP	ENST00000439028.3	37	c.270C>T	CCDS12240.1																																																																																				0.672	S1PR5-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452015.1	NM_030760		5	4	0	0	0	1	0	5	4					A	10625418	G	A	10625418	2	1	68	1	0	0	0	0	0	0	0	1	13797	1103	39	2		2	S1PR5	19	10625418	Silent	SNP	G	TCGA-EJ-5521-01A-01D-1576-08	230600	10625418	48503565	62	3566											
TSHZ3	57616	broad.mit.edu	37	chr19	31770341	31770341	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gaggaagttgttgtacacggCcttcatctgctccaggctat	8	12	11	10	1	2	0	1	0	1	0	3	2	3	1	2	3	2	5	2	3	3	5			TCGA-EJ-5521-01A-01D-1576-08	TCGA-EJ-5521-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71f9ca33-4f59-47fa-98b2-6074451c14a4	6d784e6d-e22b-41f0-9ea2-154445f6fe64	g.chr19:31770341C>T	ENST00000240587.4	-	2	685	c.358G>A	c.(358-360)Gcc>Acc	p.A120T		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	120					in utero embryonic development (GO:0001701)|kidney morphogenesis (GO:0060993)|kidney smooth muscle cell differentiation (GO:0072195)|lung development (GO:0030324)|metanephros development (GO:0001656)|musculoskeletal movement (GO:0050881)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of smooth muscle cell differentiation (GO:0051152)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|sensory perception of touch (GO:0050975)|transcription, DNA-templated (GO:0006351)|ureter smooth muscle cell differentiation (GO:0072193)|ureteric bud development (GO:0001657)|ureteric peristalsis (GO:0072105)	growth cone (GO:0030426)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.A120T(1)		breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					TTGTACACGGCCTTCATCTGC	0.557																																						ENST00000240587.4																			1	Substitution - Missense(1)	p.A120T(1)	prostate(1)	breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123						c.(358-360)Gcc>Acc		teashirt zinc finger homeobox 3							130	135	133					19																	31770341		2180	4280	6460	SO:0001583	missense	57616				negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:31770341C>T	AL136805	CCDS12421.2	19q13.11	2013-11-20	2007-07-16	2006-03-14	ENSG00000121297	ENSG00000121297		"Teashirt zinc fingers", "Homeoboxes / ZF class", "Zinc fingers, C2H2-type"	30700	protein-coding gene	gene with protein product	"teashirt 3"	614119	"zinc finger protein 537", "teashirt family zinc finger 3"	ZNF537			Standard	NM_020856		Approved	KIAA1474, TSH3	uc002nsy.4	Q63HK5	OTTHUMG00000150184	ENST00000240587.4:c.358G>A	19.37:g.31770341C>T	ENSP00000240587:p.Ala120Thr						p.A120T	NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN			2	685	-	Esophageal squamous(110;0.226)		120					Q9H0G6|Q9P254	Missense_Mutation	SNP	ENST00000240587.4	37	c.358G>A	CCDS12421.2	.	.	.	.	.	.	.	.	.	.	C	23.7	4.447397	0.84101	.	.	ENSG00000121297	ENST00000240587	T	0.22945	1.93	5.77	5.77	0.91146	.	0.000000	0.64402	U	0.000001	T	0.51041	0.1651	M	0.61703	1.905	0.80722	D	1	D	0.63880	0.993	D	0.74674	0.984	T	0.40136	-0.9579	10	0.49607	T	0.09	-22.9461	19.9924	0.97371	0.0:1.0:0.0:0.0	.	120	Q63HK5	TSH3_HUMAN	T	120	ENSP00000240587:A120T	ENSP00000240587:A120T	A	-	1	0	TSHZ3	36462181	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.440000	0.80464	2.701000	0.92244	0.650000	0.86243	GCC		0.557	TSHZ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316743.2	NM_020856		4	75	0	0	0	1	0	4	75					T	31770341	C	T	31770341	3	4	68	1	0	0	0	0	1	0	0	0	16622	739	26	3	2891	3	TSHZ3	19	31770341	Missense_Mutation	SNP	C	TCGA-EJ-5521-01A-01D-1576-08	21144923	31770341	27358642	63	3567											
FERMT1	55612	broad.mit.edu	37	chr20	6077614	6077614	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agaaagcgccgcttctatttCatcaacctcggactcgcctg	9	10	8	14	4	3	1	2	0	1	1	5	2	3	2	3	1	2	1	3	1	3	3			TCGA-EJ-5521-01A-01D-1576-08	TCGA-EJ-5521-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71f9ca33-4f59-47fa-98b2-6074451c14a4	6d784e6d-e22b-41f0-9ea2-154445f6fe64	g.chr20:6077614C>T	ENST00000217289.4	-	8	1812	c.1024G>A	c.(1024-1026)Gaa>Aaa	p.E342K	FERMT1_ENST00000478194.1_5'Flank|FERMT1_ENST00000536936.1_Missense_Mutation_p.E85K	NM_017671.4	NP_060141.3	Q9BQL6	FERM1_HUMAN	fermitin family member 1	342	FERM.				cell adhesion (GO:0007155)|establishment of epithelial cell polarity (GO:0090162)|keratinocyte migration (GO:0051546)|keratinocyte proliferation (GO:0043616)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytosol (GO:0005829)|filamentous actin (GO:0031941)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)		p.E342K(2)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(2)	17						GCTTCTATTTCATCAACCTCG	0.418																																						ENST00000217289.4																			2	Substitution - Missense(2)	p.E342K(2)	prostate(2)	NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(2)	17						c.(1024-1026)Gaa>Aaa		fermitin family member 1							158	175	169					20																	6077614		2203	4300	6503	SO:0001583	missense	55612				cell adhesion|establishment of epithelial cell polarity|keratinocyte migration|keratinocyte proliferation	cytosol|focal adhesion|ruffle membrane	binding	g.chr20:6077614C>T	AK000123	CCDS13098.1	20p12.3	2013-01-10	2010-06-24	2007-12-14	ENSG00000101311	ENSG00000101311		"Fermitins", "Pleckstrin homology (PH) domain containing"	15889	protein-coding gene	gene with protein product	"kindlin-1", "kinderlin"	607900	"chromosome 20 open reading frame 42", "fermitin family homolog 1 (Drosophila)"	C20orf42		12697302, 12789646	Standard	NM_017671		Approved	FLJ20116, URP1, KIND1, UNC112A	uc002wmr.3	Q9BQL6	OTTHUMG00000031826	ENST00000217289.4:c.1024G>A	20.37:g.6077614C>T	ENSP00000217289:p.Glu342Lys					FERMT1_ENST00000536936.1_Missense_Mutation_p.E85K	p.E342K	NM_017671.4	NP_060141.3	Q9BQL6	FERM1_HUMAN			8	1812	-			342			FERM.		D3DW10|Q8IX34|Q8IYH2|Q9NWM2|Q9NXQ3	Missense_Mutation	SNP	ENST00000217289.4	37	c.1024G>A	CCDS13098.1	.	.	.	.	.	.	.	.	.	.	C	16.88	3.244258	0.59103	.	.	ENSG00000101311	ENST00000217289;ENST00000536936;ENST00000339538	T;T	0.77877	-1.13;-1.13	5.55	5.55	0.83447	Band 4.1 domain (1);FERM central domain (2);	0.000000	0.85682	D	0.000000	D	0.83312	0.5227	M	0.79805	2.47	0.80722	D	1	B;B;B	0.26512	0.151;0.074;0.151	B;B;B	0.36766	0.232;0.139;0.232	T	0.82010	-0.0669	10	0.56958	D	0.05	-39.9161	19.1164	0.93343	0.0:1.0:0.0:0.0	.	342;342;342	B2RAX1;Q9BQL6-4;Q9BQL6	.;.;FERM1_HUMAN	K	342;85;342	ENSP00000217289:E342K;ENSP00000441063:E85K	ENSP00000217289:E342K	E	-	1	0	FERMT1	6025614	1.000000	0.71417	0.198000	0.23420	0.053000	0.15095	7.221000	0.78016	2.610000	0.88304	0.555000	0.69702	GAA		0.418	FERMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077908.2	NM_017671		8	393	0	0	0	1	0	8	393					T	6077614	C	T	6077614	3	4	68	1	0	0	0	0	1	0	0	0	5817	835	29	3	1041	3	FERMT1	20	6077614	Missense_Mutation	SNP	C	TCGA-EJ-5521-01A-01D-1576-08		6077614	56947906	64	3568											
RRBP1	6238	broad.mit.edu	37	chr20	17622555	17622555	+	Nonsense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatcgccacagggtcaccctTctgagtggcctagaaatacc	11	8	9	13	1	2	2	1	1	1	1	3	2	2	2	4	2	1	0	4	2	4	3			TCGA-EJ-5521-01A-01D-1576-08	TCGA-EJ-5521-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71f9ca33-4f59-47fa-98b2-6074451c14a4	6d784e6d-e22b-41f0-9ea2-154445f6fe64	g.chr20:17622555T>A	ENST00000377813.1	-	5	2374	c.2071A>T	c.(2071-2073)Aag>Tag	p.K691*	RRBP1_ENST00000455029.2_Nonsense_Mutation_p.K32*|RRBP1_ENST00000246043.4_Nonsense_Mutation_p.K691*|RRBP1_ENST00000377807.2_Nonsense_Mutation_p.K258*|RRBP1_ENST00000360807.4_Nonsense_Mutation_p.K258*			Q9P2E9	RRBP1_HUMAN	ribosome binding protein 1	691					osteoblast differentiation (GO:0001649)|protein transport (GO:0015031)|translation (GO:0006412)	endoplasmic reticulum (GO:0005783)|integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|receptor activity (GO:0004872)	p.K258*(1)|p.K691*(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|prostate(6)	28						GGGTCACCCTTCTGAGTGGCC	0.557																																						ENST00000377813.1																			2	Substitution - Nonsense(2)	p.K258*(1)|p.K691*(1)	prostate(2)	breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|prostate(6)	28						c.(2071-2073)Aag>Tag		ribosome binding protein 1							120	115	117					20																	17622555		2203	4300	6503	SO:0001587	stop_gained	6238				protein transport|translation|transmembrane transport	integral to endoplasmic reticulum membrane|ribosome	receptor activity	g.chr20:17622555T>A	AB037819	CCDS13128.1	20p12	2012-12-07	2012-12-07		ENSG00000125844	ENSG00000125844			10448	protein-coding gene	gene with protein product		601418	"ribosome binding protein 1 (dog 180kD homolog)", "ribosome binding protein 1 homolog 180kDa (dog)"			8812507	Standard	NM_001042576		Approved	ES/130, hES	uc002wpw.1	Q9P2E9	OTTHUMG00000031945	ENST00000377813.1:c.2071A>T	20.37:g.17622555T>A	ENSP00000367044:p.Lys691*					RRBP1_ENST00000455029.2_Nonsense_Mutation_p.K32*|RRBP1_ENST00000360807.4_Nonsense_Mutation_p.K258*|RRBP1_ENST00000377807.2_Nonsense_Mutation_p.K258*|RRBP1_ENST00000246043.4_Nonsense_Mutation_p.K691*	p.K691*			Q9P2E9	RRBP1_HUMAN			5	2374	-			691					A2A2S6|A6NCN6|O75300|O75301|Q5W165|Q96SB2|Q9BWP1|Q9H476	Nonsense_Mutation	SNP	ENST00000377813.1	37	c.2071A>T		.	.	.	.	.	.	.	.	.	.	T	41	8.846750	0.98976	.	.	ENSG00000125844	ENST00000360807;ENST00000377813;ENST00000377807;ENST00000246043;ENST00000455029	.	.	.	6.08	6.08	0.98989	.	0.000000	0.39407	N	0.001373	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-43.542	15.825	0.78698	0.0:0.0:0.0:1.0	.	.	.	.	X	258;691;258;691;32	.	ENSP00000246043:K691X	K	-	1	0	RRBP1	17570555	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.789000	0.69029	2.333000	0.79357	0.533000	0.62120	AAG		0.557	RRBP1-002	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000078125.1	NM_001042576		10	192	0	0	0	1	0	10	192					A	17622555	T	A	17622555	4	1	68	1	0	0	0	0	0	1	0	0	13678	1792	62	5	2245	5	RRBP1	20	17622555	Nonsense_Mutation	SNP	T	TCGA-EJ-5521-01A-01D-1576-08	11544941	17622555	45402965	65	3569											
L3MBTL	26013	broad.mit.edu	37	chr20	42161556	42161556	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacaactgggatgatacttaTgactactggtagtaggaggg	12	10	14	5	0	0	2	0	2	0	0	0	5	0	4	0	4	3	2	0	4	6	5	rs201640833		TCGA-EJ-5521-01A-01D-1576-08	TCGA-EJ-5521-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71f9ca33-4f59-47fa-98b2-6074451c14a4	6d784e6d-e22b-41f0-9ea2-154445f6fe64	g.chr20:42161556T>C	ENST00000427442.2	+	12	1521	c.1362T>C	c.(1360-1362)taT>taC	p.Y454Y	L3MBTL1_ENST00000444063.1_Silent_p.Y386Y|L3MBTL1_ENST00000418998.1_Silent_p.Y454Y|L3MBTL1_ENST00000373134.1_Silent_p.Y386Y|L3MBTL1_ENST00000373135.3_Silent_p.Y386Y			Q9Y468	LMBL1_HUMAN	l(3)mbt-like 1 (Drosophila)	386					chromatin modification (GO:0016568)|hemopoiesis (GO:0030097)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of cell cycle (GO:0051726)|regulation of megakaryocyte differentiation (GO:0045652)|regulation of mitosis (GO:0007088)|transcription, DNA-templated (GO:0006351)	chromatin (GO:0000785)|condensed chromosome (GO:0000793)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|histone binding (GO:0042393)|identical protein binding (GO:0042802)|methylated histone binding (GO:0035064)|nucleosomal histone binding (GO:0031493)|nucleosome binding (GO:0031491)|SAM domain binding (GO:0032093)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.Y454Y(1)		breast(1)|large_intestine(3)|ovary(1)|skin(2)	7						ATGATACTTATGACTACTGGT	0.572																																						ENST00000444063.1																			1	Substitution - coding silent(1)	p.Y454Y(1)	prostate(1)	breast(1)|large_intestine(3)|ovary(1)|skin(2)	7						c.(1156-1158)taT>taC		l(3)mbt-like 1 (Drosophila)							106	87	93					20																	42161556		2203	4300	6503	SO:0001819	synonymous_variant	26013				chromatin modification|hemopoiesis|negative regulation of transcription, DNA-dependent|regulation of megakaryocyte differentiation|regulation of mitosis	chromatin|condensed chromosome|nucleoplasm	identical protein binding|methylated histone residue binding|nucleosomal histone binding|SAM domain binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr20:42161556T>C	U89358	CCDS13319.1, CCDS46602.1, CCDS46602.2	20q13.12	2013-01-10	2010-09-03	2010-09-03	ENSG00000185513	ENSG00000185513		"Zinc fingers, C2HC-type containing", "Sterile alpha motif (SAM) domain containing"	15905	protein-coding gene	gene with protein product	"lethal (3) malignant brain tumor l(3)"	608802	"l(3)mbt (Drosophila)-like", "l(3)mbt-like (Drosophila)"	L3MBTL		10445843, 17540172	Standard	NM_032107		Approved	ZC2HC3, dJ138B7.3, DKFZp586P1522, KIAA0681	uc010zwh.2	Q9Y468	OTTHUMG00000032503	ENST00000427442.2:c.1362T>C	20.37:g.42161556T>C						L3MBTL1_ENST00000418998.1_Silent_p.Y454Y|L3MBTL1_ENST00000373134.1_Silent_p.Y386Y|L3MBTL1_ENST00000427442.2_Silent_p.Y454Y|L3MBTL1_ENST00000373135.3_Silent_p.Y386Y	p.Y386Y			Q9Y468	LMBL1_HUMAN			9	1290	+			386			Interaction with monomethylated and dimethylated peptides.		B4DRC9|E1P5W7|Q5H8Y8|Q5H8Y9|Q8IUV7|Q9H1E6|Q9H1G5|Q9UG06|Q9UJB9|Q9Y4C9	Silent	SNP	ENST00000427442.2	37	c.1158T>C	CCDS46602.2	.	.	.	.	.	.	.	.	.	.	T	9.080	0.999146	0.19121	.	.	ENSG00000185513	ENST00000445228	.	.	.	5.18	-7.69	0.01263	.	.	.	.	.	T	0.62454	0.2429	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.67833	-0.5568	4	.	.	.	.	16.0457	0.80720	0.0:0.308:0.0:0.692	.	.	.	.	T	77	.	.	M	+	2	0	L3MBTL1	41594970	0.001000	0.12720	0.794000	0.32065	0.989000	0.77384	-1.466000	0.02355	-1.324000	0.02272	-0.285000	0.09966	ATG		0.572	L3MBTL1-007	KNOWN	upstream_ATG|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079300.3	NM_032107		7	77	0	0	0	1	0	7	77					C	42161556	T	C	42161556	2	2	68	1	0	0	0	0	0	0	0	1	8591	1471	51	4		4	L3MBTL	20	42161556	Silent	SNP	T	TCGA-EJ-5521-01A-01D-1576-08	24539001	42161556	20863964	66	3570											
NCAM2	4685	broad.mit.edu	37	chr21	22658654	22658655	+	Frame_Shift_Ins	INS	-	-	T																															aggagaagatgcagaagtggINStttgccgagttagcagttca																										TCGA-EJ-5521-01A-01D-1576-08	TCGA-EJ-5521-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71f9ca33-4f59-47fa-98b2-6074451c14a4	6d784e6d-e22b-41f0-9ea2-154445f6fe64	g.chr21:22658654_22658655insT	ENST00000400546.1	+	4	652_653	c.403_404insT	c.(403-405)gttfs	p.V135fs	NCAM2_ENST00000535285.1_Frame_Shift_Ins_p.V160fs|NCAM2_ENST00000284894.7_Intron|NCAM2_ENST00000486367.1_3'UTR	NM_004540.3	NP_004531.2	O15394	NCAM2_HUMAN	neural cell adhesion molecule 2	135	Ig-like C2-type 2.				axonal fasciculation (GO:0007413)|neuron cell-cell adhesion (GO:0007158)|sensory perception of smell (GO:0007608)	axon (GO:0030424)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(4)|cervix(2)|endometrium(8)|kidney(6)|large_intestine(22)|liver(4)|lung(49)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	108		Lung NSC(9;0.195)		all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174)		TGCAGAAGTGGTTTGCCGAGTT	0.401																																						ENST00000400546.1																			0				breast(4)|cervix(2)|endometrium(8)|kidney(6)|large_intestine(22)|liver(4)|lung(49)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	108						c.(403-405)ttgfs		neural cell adhesion molecule 2																																				SO:0001589	frameshift_variant	4685				neuron cell-cell adhesion	integral to membrane|plasma membrane		g.chr21:22658654_22658655insT		CCDS42910.1	21q21	2013-02-11			ENSG00000154654	ENSG00000154654		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	7657	protein-coding gene	gene with protein product		602040				9226371	Standard	NM_004540		Approved	NCAM21, MGC51008	uc002yld.2	O15394	OTTHUMG00000078121	ENST00000400546.1:c.406dupT	21.37:g.22658657_22658657dupT	ENSP00000383392:p.Val135fs					NCAM2_ENST00000486367.1_3'UTR|NCAM2_ENST00000535285.1_Frame_Shift_Ins_p.L160fs|NCAM2_ENST00000284894.7_Intron	p.L135fs	NM_004540.3	NP_004531.2	O15394	NCAM2_HUMAN		all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174)	4	652_653	+		Lung NSC(9;0.195)	135			Ig-like C2-type 2.		A8MQ06|B7Z841|Q7Z7F2	Frame_Shift_Ins	INS	ENST00000400546.1	37	c.403_404insT	CCDS42910.1																																																																																				0.401	NCAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000170915.1	NM_004540		25	87						25	87	---	---	---	---	T	22658655	-	T	22658654	7	5	68	1	0	1	1	0	0	0	0	0	10203	1261	44	0	417	0	NCAM2	21	22658654	Frame_Shift_Ins	INS	-	TCGA-EJ-5521-01A-01D-1576-08		22658654	25471241	67	3571											
DSCAM	1826	broad.mit.edu	37	chr21	41465774	41465774	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aattctgtaggaaaacgagtCgggagaggcctcaaactcgc	13	7	12	9	3	2	1	1	0	1	1	4	4	2	2	1	3	2	1	1	3	5	2			TCGA-EJ-5521-01A-01D-1576-08	TCGA-EJ-5521-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71f9ca33-4f59-47fa-98b2-6074451c14a4	6d784e6d-e22b-41f0-9ea2-154445f6fe64	g.chr21:41465774C>T	ENST00000400454.1	-	21	4201	c.3724G>A	c.(3724-3726)Gac>Aac	p.D1242N		NM_001271534.1|NM_001389.3	NP_001258463.1|NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	1242	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|dendrite morphogenesis (GO:0048813)|dendrite self-avoidance (GO:0070593)|locomotory behavior (GO:0007626)|negative regulation of cell adhesion (GO:0007162)|nervous system development (GO:0007399)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of phosphorylation (GO:0042327)|post-embryonic retina morphogenesis in camera-type eye (GO:0060060)	axon (GO:0030424)|extracellular region (GO:0005576)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)		p.D1242N(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				GAAAACGAGTCGGGAGAGGCC	0.478																																					Melanoma(134;970 1778 1785 21664 32388)	ENST00000400454.1																			1	Substitution - Missense(1)	p.D1242N(1)	prostate(1)	NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142						c.(3724-3726)Gac>Aac		Down syndrome cell adhesion molecule							73	72	72					21																	41465774		1948	4137	6085	SO:0001583	missense	1826				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding	g.chr21:41465774C>T	AF023449	CCDS42929.1	21q22.2-q22.3	2013-02-11			ENSG00000171587	ENSG00000171587		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	3039	protein-coding gene	gene with protein product		602523				9426258	Standard	NM_001271534		Approved	CHD2-42, CHD2-52	uc002yyq.1	O60469	OTTHUMG00000086732	ENST00000400454.1:c.3724G>A	21.37:g.41465774C>T	ENSP00000383303:p.Asp1242Asn						p.D1242N	NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN			21	4201	-		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)	1242			Fibronectin type-III 4.		O60468	Missense_Mutation	SNP	ENST00000400454.1	37	c.3724G>A	CCDS42929.1	.	.	.	.	.	.	.	.	.	.	C	16.10	3.026184	0.54683	.	.	ENSG00000171587	ENST00000400454;ENST00000404019	T;T	0.56275	0.47;0.47	5.02	5.02	0.67125	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.57548	0.2061	N	0.20766	0.605	0.51767	D	0.999936	D	0.89917	1.0	D	0.72075	0.976	T	0.53528	-0.8426	10	0.18710	T	0.47	.	18.3338	0.90280	0.0:1.0:0.0:0.0	.	1242	O60469	DSCAM_HUMAN	N	1242;994	ENSP00000383303:D1242N;ENSP00000385342:D994N	ENSP00000383303:D1242N	D	-	1	0	DSCAM	40387644	1.000000	0.71417	1.000000	0.80357	0.170000	0.22686	7.726000	0.84824	2.312000	0.78011	0.467000	0.42956	GAC		0.478	DSCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195029.1	NM_001389		22	33	0	0	0	1	0	22	33					T	41465774	C	T	41465774	3	4	68	1	0	0	0	0	1	0	0	0	4768	884	31	2	2366	2	DSCAM	21	41465774	Missense_Mutation	SNP	C	TCGA-EJ-5521-01A-01D-1576-08	18807120	41465774	6664121	68	3572											
LIMK2	3985	broad.mit.edu	37	chr22	31663865	31663865	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gacagagtacattgagggggGcacactgaaggactttctgc	11	8	14	8	0	1	3	0	2	1	1	1	5	1	4	0	4	2	2	0	4	2	3			TCGA-EJ-5521-01A-01D-1576-08	TCGA-EJ-5521-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71f9ca33-4f59-47fa-98b2-6074451c14a4	6d784e6d-e22b-41f0-9ea2-154445f6fe64	g.chr22:31663865G>C	ENST00000331728.4	+	10	1346	c.1232G>C	c.(1231-1233)gGc>gCc	p.G411A	LIMK2_ENST00000333611.4_Missense_Mutation_p.G390A|LIMK2_ENST00000406516.1_Missense_Mutation_p.G333A|LIMK2_ENST00000444929.2_Missense_Mutation_p.G165A|LIMK2_ENST00000340552.4_Missense_Mutation_p.G390A	NM_005569.3	NP_005560.1	P53671	LIMK2_HUMAN	LIM domain kinase 2	411	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				phosphorylation (GO:0016310)|spermatogenesis (GO:0007283)	cis-Golgi network (GO:0005801)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|zinc ion binding (GO:0008270)	p.G411A(2)		endometrium(7)|kidney(3)|large_intestine(6)|lung(6)|ovary(2)|prostate(4)|skin(1)	29						ATTGAGGGGGGCACACTGAAG	0.527																																						ENST00000331728.4																			2	Substitution - Missense(2)	p.G411A(2)	prostate(2)	endometrium(7)|kidney(3)|large_intestine(6)|lung(6)|ovary(2)|prostate(4)|skin(1)	29						c.(1231-1233)gGc>gCc		LIM domain kinase 2							85	76	79					22																	31663865		2203	4300	6503	SO:0001583	missense	3985					mitochondrion|nucleus	ATP binding|protein serine/threonine kinase activity|zinc ion binding	g.chr22:31663865G>C	D45906	CCDS13891.1, CCDS13892.1, CCDS33637.1	22q12	2005-01-21			ENSG00000182541	ENSG00000182541			6614	protein-coding gene	gene with protein product		601988				8537403, 10591208	Standard	NM_005569		Approved		uc003akh.3	P53671	OTTHUMG00000151251	ENST00000331728.4:c.1232G>C	22.37:g.31663865G>C	ENSP00000332687:p.Gly411Ala					LIMK2_ENST00000340552.4_Missense_Mutation_p.G390A|LIMK2_ENST00000333611.4_Missense_Mutation_p.G390A|LIMK2_ENST00000444929.2_Missense_Mutation_p.G165A|LIMK2_ENST00000406516.1_Missense_Mutation_p.G333A	p.G411A	NM_005569.3	NP_005560.1	P53671	LIMK2_HUMAN			10	1346	+			411			Protein kinase.		A8K6H5|Q7KZ80|Q7L3H5|Q96E10|Q99464|Q9UFU0	Missense_Mutation	SNP	ENST00000331728.4	37	c.1232G>C	CCDS13891.1	.	.	.	.	.	.	.	.	.	.	.	32	5.163870	0.94727	.	.	ENSG00000182541	ENST00000406516;ENST00000444929;ENST00000331728;ENST00000436394;ENST00000333611;ENST00000340552	D;D;D;D;D	0.93604	-3.25;-2.55;-2.55;-2.55;-3.25	5.81	5.81	0.92471	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.97911	0.9313	H	0.95816	3.725	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.997;0.998;0.998;0.998;0.999	D	0.98638	1.0674	10	0.87932	D	0	-36.9517	19.051	0.93046	0.0:0.0:1.0:0.0	.	443;390;165;411;333	F5GY29;Q7L3H5;E7EUC1;P53671;B5MC51	.;.;.;LIMK2_HUMAN;.	A	333;165;411;443;390;390	ENSP00000384602:G333A;ENSP00000409522:G165A;ENSP00000332687:G411A;ENSP00000330470:G390A;ENSP00000339916:G390A	ENSP00000332687:G411A	G	+	2	0	LIMK2	29993865	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	9.476000	0.97823	2.745000	0.94114	0.655000	0.94253	GGC		0.527	LIMK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321911.1	NM_016733		6	113	0	0	0	1	0	6	113					C	31663865	G	C	31663865	3	2	68	1	0	0	0	0	1	0	0	0	8802	1203	42	5	1327	5	LIMK2	22	31663865	Missense_Mutation	SNP	G	TCGA-EJ-5521-01A-01D-1576-08		31663865	19640701	69	3573											
UBQLN2	29978	broad.mit.edu	37	chrX	56591153	56591153	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aagagccgatgctgaatgccGcacaagagcagtttgggggt	11	7	15	8	2	0	3	0	1	0	2	0	4	0	3	2	2	4	4	2	2	3	1			TCGA-EJ-5521-01A-01D-1576-08	TCGA-EJ-5521-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71f9ca33-4f59-47fa-98b2-6074451c14a4	6d784e6d-e22b-41f0-9ea2-154445f6fe64	g.chrX:56591153G>A	ENST00000338222.5	+	1	1128	c.847G>A	c.(847-849)Gca>Aca	p.A283T		NM_013444.3	NP_038472.2	Q9UHD9	UBQL2_HUMAN	ubiquilin 2	283			A -> T (in ALS15). {ECO:0000269|PubMed:22892309}.		cell death (GO:0008219)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.A283T(2)		breast(2)|endometrium(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(1)	21						GCTGAATGCCGCACAAGAGCA	0.517																																					Esophageal Squamous(104;218 1492 6022 10838 28884)	ENST00000338222.5																			2	Substitution - Missense(2)	p.A283T(2)	prostate(2)	breast(2)|endometrium(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(1)	21						c.(847-849)Gca>Aca		ubiquilin 2							54	52	53					X																	56591153		2203	4300	6503	SO:0001583	missense	29978					cytoplasm|nucleus|plasma membrane	binding	g.chrX:56591153G>A	AF189009	CCDS14374.1	Xp11.21	2014-09-17			ENSG00000188021	ENSG00000188021		"Ubiquilin family"	12509	protein-coding gene	gene with protein product	"NEDD4 binding protein 4"	300264				10675567	Standard	NM_013444		Approved	Chap1, Dsk2, RIHFB2157, LIC-2, CHAP1/DSK2, PLIC-2, N4BP4, PLIC2	uc004dus.3	Q9UHD9	OTTHUMG00000021669	ENST00000338222.5:c.847G>A	X.37:g.56591153G>A	ENSP00000345195:p.Ala283Thr						p.A283T	NM_013444.3	NP_038472.2	Q9UHD9	UBQL2_HUMAN			1	1128	+			283					O94798|Q5D027|Q9H3W6|Q9HAZ4	Missense_Mutation	SNP	ENST00000338222.5	37	c.847G>A	CCDS14374.1	.	.	.	.	.	.	.	.	.	.	G	17.23	3.337223	0.60963	.	.	ENSG00000188021	ENST00000338222;ENST00000535171	T	0.80824	-1.42	4.93	4.93	0.64822	.	0.000000	0.64402	D	0.000004	D	0.86087	0.5849	L	0.54965	1.715	0.80722	D	1	D;D	0.89917	0.998;1.0	P;D	0.76071	0.89;0.987	D	0.83667	0.0164	10	0.27785	T	0.31	-7.4834	14.6902	0.69080	0.0:0.0:1.0:0.0	.	283;283	B4DZF1;Q9UHD9	.;UBQL2_HUMAN	T	283	ENSP00000345195:A283T	ENSP00000345195:A283T	A	+	1	0	UBQLN2	56607878	1.000000	0.71417	0.965000	0.40720	0.678000	0.39670	9.197000	0.94985	2.440000	0.82611	0.600000	0.82982	GCA		0.517	UBQLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056891.1	NM_013444		3	39	0	0	0	1	0	3	39					A	56591153	G	A	56591153	3	1	68	1	0	0	0	0	1	0	0	0	16894	1087	38	1	849	1	UBQLN2	23	56591153	Missense_Mutation	SNP	G	TCGA-EJ-5521-01A-01D-1576-08		56591153	98679407	70	3574											
CLIC2	1193	broad.mit.edu	37	chrX	154528413	154528413	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccagaggatcatgaaaaggcGttggcaaaagggacagtttc	14	7	13	7	1	1	2	1	1	0	1	2	4	1	4	1	4	0	3	1	4	4	2			TCGA-EJ-5521-01A-01D-1576-08	TCGA-EJ-5521-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71f9ca33-4f59-47fa-98b2-6074451c14a4	6d784e6d-e22b-41f0-9ea2-154445f6fe64	g.chrX:154528413G>C	ENST00000369449.2	-	2	321	c.103C>G	c.(103-105)Cgc>Ggc	p.R35G	CLIC2_ENST00000465553.1_5'UTR	NM_001289.4	NP_001280.3	O15247	CLIC2_HUMAN	chloride intracellular channel 2	35	N-terminal.|Required for insertion into the membrane. {ECO:0000250}.				chloride transmembrane transport (GO:1902476)|negative regulation of ryanodine-sensitive calcium-release channel activity (GO:0060315)|oxidation-reduction process (GO:0055114)|positive regulation of binding (GO:0051099)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|signal transduction (GO:0007165)|transport (GO:0006810)	chloride channel complex (GO:0034707)|cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634)	chloride channel activity (GO:0005254)|glutathione peroxidase activity (GO:0004602)|voltage-gated chloride channel activity (GO:0005247)	p.R35G(2)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)	18	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					ATGAAAAGGCGTTGGCAAAAG	0.363																																					Melanoma(108;581 1592 2289 21669 28822)	ENST00000369449.2																			2	Substitution - Missense(2)	p.R35G(2)	prostate(2)	breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)	18						c.(103-105)Cgc>Ggc		chloride intracellular channel 2							131	120	124					X																	154528413		2203	4300	6503	SO:0001583	missense	1193				signal transduction	chloride channel complex|cytoplasm|nucleus	voltage-gated chloride channel activity	g.chrX:154528413G>C	AJ000217	CCDS14767.1	Xq28	2012-09-26			ENSG00000155962	ENSG00000155962		"Ion channels / Chloride channels : Intracellular"	2063	protein-coding gene	gene with protein product		300138				9339381	Standard	NM_001289		Approved	XAP121	uc004fnf.3	O15247	OTTHUMG00000022660	ENST00000369449.2:c.103C>G	X.37:g.154528413G>C	ENSP00000358460:p.Arg35Gly					CLIC2_ENST00000465553.1_5'UTR	p.R35G	NM_001289.4	NP_001280.3	O15247	CLIC2_HUMAN			2	321	-	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)		35			N-terminal.|Required for insertion into the membrane (By similarity).		A8K9S0|O15174|Q5JT80|Q8TCE3	Missense_Mutation	SNP	ENST00000369449.2	37	c.103C>G	CCDS14767.1	.	.	.	.	.	.	.	.	.	.	G	11.37	1.619972	0.28801	.	.	ENSG00000155962	ENST00000369449;ENST00000321926	T;T	0.57907	0.37;0.37	4.99	4.12	0.48240	Thioredoxin-like fold (2);	0.000000	0.85682	D	0.000000	T	0.79149	0.4397	H	0.95679	3.705	0.50467	D	0.999873	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.83910	0.0295	10	0.87932	D	0	-7.1705	11.9069	0.52717	0.0:0.0:0.8247:0.1753	.	53;35	Q86YM0;O15247	.;CLIC2_HUMAN	G	35	ENSP00000358460:R35G;ENSP00000318558:R35G	ENSP00000318558:R35G	R	-	1	0	CLIC2	154181607	1.000000	0.71417	0.995000	0.50966	0.063000	0.16089	2.702000	0.47102	1.010000	0.39314	0.506000	0.49869	CGC		0.363	CLIC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058793.1	NM_001289		18	87	0	0	0	1	0	18	87					C	154528413	G	C	154528413	3	2	68	1	0	0	0	0	1	0	0	0	3526	1145	40	5	660	5	CLIC2	23	154528413	Missense_Mutation	SNP	G	TCGA-EJ-5521-01A-01D-1576-08	97937260	154528413	742147	71	3575											
CCNL2	81669	broad.mit.edu	37	chr1	1333666	1333666	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acattgatgacgtcccgtatGcgtcttggggcctcttctat	6	14	10	11	3	3	2	0	2	3	0	4	2	4	2	2	2	1	1	2	2	2	5			TCGA-EJ-5522-01A-01D-1576-08	TCGA-EJ-5522-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a89182-c17c-42a8-af9e-4fcc861e336c	9b4b6723-8e0e-4e98-a726-c023723e08b1	g.chr1:1333666G>A	ENST00000400809.3	-	3	425	c.420C>T	c.(418-420)cgC>cgT	p.R140R	RP4-758J18.2_ENST00000448629.2_5'Flank|CCNL2_ENST00000408918.4_Silent_p.R140R|RP4-758J18.2_ENST00000444362.1_5'Flank|CCNL2_ENST00000408952.5_5'UTR|RP4-758J18.2_ENST00000576232.1_5'Flank	NM_030937.4	NP_112199.2	Q96S94	CCNL2_HUMAN	cyclin L2	140	Cyclin-like 1.				regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of transcription, DNA-templated (GO:0006355)|RNA processing (GO:0006396)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)		p.R140R(1)		central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(3)|ovary(2)|prostate(2)	13	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;2.03e-36)|OV - Ovarian serous cystadenocarcinoma(86;4.17e-22)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.0023)|BRCA - Breast invasive adenocarcinoma(365;0.00465)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.146)		CGTCCCGTATGCGTCTTGGGG	0.502																																						ENST00000400809.3																			1	Substitution - coding silent(1)	p.R140R(1)	prostate(1)	central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(3)|ovary(2)|prostate(2)	13						c.(418-420)cgC>cgT		cyclin L2							205	176	186					1																	1333666		2203	4300	6503	SO:0001819	synonymous_variant	81669				regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|RNA processing|transcription, DNA-dependent	nuclear speck	protein kinase binding	g.chr1:1333666G>A	AF251294	CCDS30557.1, CCDS30558.1	1p36.33	2014-07-03			ENSG00000221978	ENSG00000221978			20570	protein-coding gene	gene with protein product	"cyclin S"	613482	"cyclin M"	CCNM		14725631	Standard	NM_030937		Approved	ania-6b, PCEE, SB138, HLA-ISO, CCNS	uc001afi.2	Q96S94	OTTHUMG00000002917	ENST00000400809.3:c.420C>T	1.37:g.1333666G>A						CCNL2_ENST00000408918.4_Silent_p.R140R|CCNL2_ENST00000408952.5_5'UTR	p.R140R	NM_030937.4	NP_112199.2	Q96S94	CCNL2_HUMAN		Epithelial(90;2.03e-36)|OV - Ovarian serous cystadenocarcinoma(86;4.17e-22)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.0023)|BRCA - Breast invasive adenocarcinoma(365;0.00465)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.146)	3	425	-	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)	140			Cyclin-like 1.		A8K8A3|B1B152|Q5T2N5|Q5T2N6|Q6IQ12|Q7Z4Z8|Q8N3C9|Q8N3D5|Q8NHE3|Q8TEL0|Q96B00	Silent	SNP	ENST00000400809.3	37	c.420C>T	CCDS30557.1																																																																																				0.502	CCNL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008146.2	NM_030937		51	195	0	0	0	0.870114	0	51	195					A	1333666	G	A	1333666	2	1	69	1	0	0	0	0	0	0	0	1	2932	1306	46	3		3	CCNL2	1	1333666	Silent	SNP	G	TCGA-EJ-5522-01A-01D-1576-08		1333666	247916955	1	3576											
COPA	1314	broad.mit.edu	37	chr1	160276964	160276964	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttaactcaccgaatgcatccGatctaggacagcaaaccgat	14	8	7	12	3	2	0	1	0	1	0	3	4	3	1	3	1	4	2	3	1	4	2			TCGA-EJ-5522-01A-01D-1576-08	TCGA-EJ-5522-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a89182-c17c-42a8-af9e-4fcc861e336c	9b4b6723-8e0e-4e98-a726-c023723e08b1	g.chr1:160276964G>A	ENST00000241704.7	-	14	1520	c.1291C>T	c.(1291-1293)Cgg>Tgg	p.R431W	COPA_ENST00000368069.3_Missense_Mutation_p.R431W	NM_001098398.1|NM_004371.3	NP_001091868.1|NP_004362.2	P53621	COPA_HUMAN	coatomer protein complex, subunit alpha	431					COPI coating of Golgi vesicle (GO:0048205)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|pancreatic juice secretion (GO:0030157)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	COPI vesicle coat (GO:0030126)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	structural molecule activity (GO:0005198)	p.R431W(1)		central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2)	46	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			GAATGCATCCGATCTAGGACA	0.478																																						ENST00000241704.7																			1	Substitution - Missense(1)	p.R431W(1)	prostate(1)	central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2)	46						c.(1291-1293)Cgg>Tgg		coatomer protein complex, subunit alpha							168	164	165					1																	160276964		2203	4300	6503	SO:0001583	missense	1314				COPI coating of Golgi vesicle|intracellular protein transport|pancreatic juice secretion|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol|extracellular space|microsome|soluble fraction	hormone activity|structural molecule activity	g.chr1:160276964G>A	U24105	CCDS1202.1, CCDS41424.1	1q23.2	2014-01-30			ENSG00000122218	ENSG00000122218		"WD repeat domain containing", "Endogenous ligands"	2230	protein-coding gene	gene with protein product	"proxenin", "xenin"	601924				8647451	Standard	NM_004371		Approved	HEP-COP	uc001fvv.4	P53621	OTTHUMG00000033111	ENST00000241704.7:c.1291C>T	1.37:g.160276964G>A	ENSP00000241704:p.Arg431Trp					COPA_ENST00000368069.3_Missense_Mutation_p.R431W	p.R431W	NM_001098398.1|NM_004371.3	NP_001091868.1|NP_004362.2	P53621	COPA_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)		14	1520	-	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		431					Q5T201|Q8IXZ9	Missense_Mutation	SNP	ENST00000241704.7	37	c.1291C>T	CCDS1202.1	.	.	.	.	.	.	.	.	.	.	G	24.9	4.581389	0.86748	.	.	ENSG00000122218	ENST00000368069;ENST00000241704	T;T	0.62364	0.05;0.03	5.46	5.46	0.80206	Coatomer, WD associated region (1);	0.000000	0.85682	D	0.000000	T	0.79534	0.4462	M	0.84683	2.71	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.994	T	0.81671	-0.0827	10	0.87932	D	0	-17.1783	18.0325	0.89289	0.0:0.0:1.0:0.0	.	431;431	P53621;P53621-2	COPA_HUMAN;.	W	431	ENSP00000357048:R431W;ENSP00000241704:R431W	ENSP00000241704:R431W	R	-	1	2	COPA	158543588	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.405000	0.80007	2.847000	0.97988	0.591000	0.81541	CGG		0.478	COPA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080638.1	NM_004371		7	297	0	0	0	0.307466	0	7	297					A	160276964	G	A	160276964	3	1	69	1	0	0	0	0	1	0	0	0	3727	1057	37	2	2490	2	COPA	1	160276964	Missense_Mutation	SNP	G	TCGA-EJ-5522-01A-01D-1576-08	158943298	160276964	88973657	2	3577											
FIGN	55137	broad.mit.edu	37	chr2	164467945	164467945	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gagggctgaactgactccagCtttgctggcagtgataacat	10	10	12	9	0	0	3	0	3	0	0	1	4	1	3	1	2	4	4	1	2	2	2			TCGA-EJ-5522-01A-01D-1576-08	TCGA-EJ-5522-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a89182-c17c-42a8-af9e-4fcc861e336c	9b4b6723-8e0e-4e98-a726-c023723e08b1	g.chr2:164467945C>T	ENST00000333129.3	-	3	711	c.397G>A	c.(397-399)Gct>Act	p.A133T	FIGN_ENST00000482917.1_5'UTR|FIGN_ENST00000409634.1_Intron	NM_018086.2	NP_060556.2	Q5HY92	FIGN_HUMAN	fidgetin	133					mitotic nuclear division (GO:0007067)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nuclear matrix (GO:0016363)	ATP binding (GO:0005524)	p.A133T(1)		breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(1)|prostate(2)|skin(1)	47						CTGACTCCAGCTTTGCTGGCA	0.498																																						ENST00000333129.3																			1	Substitution - Missense(1)	p.A133T(1)	prostate(1)	breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(1)|prostate(2)|skin(1)	47						c.(397-399)Gct>Act		fidgetin							110	105	106					2																	164467945		1960	4151	6111	SO:0001583	missense	55137					nuclear matrix	ATP binding|nucleoside-triphosphatase activity	g.chr2:164467945C>T	AK001267	CCDS2221.2	2q24	2010-04-21			ENSG00000182263	ENSG00000182263		"ATPases / AAA-type"	13285	protein-coding gene	gene with protein product		605295				11017077	Standard	XM_005246661		Approved		uc002uck.1	Q5HY92	OTTHUMG00000074059	ENST00000333129.3:c.397G>A	2.37:g.164467945C>T	ENSP00000333836:p.Ala133Thr					FIGN_ENST00000482917.1_5'UTR|FIGN_ENST00000409634.1_Intron	p.A133T	NM_018086.2	NP_060556.2	Q5HY92	FIGN_HUMAN			3	711	-			133					B3KWM0|Q9H6M5|Q9NVZ9	Missense_Mutation	SNP	ENST00000333129.3	37	c.397G>A	CCDS2221.2	.	.	.	.	.	.	.	.	.	.	C	12.06	1.825137	0.32237	.	.	ENSG00000182263	ENST00000333129	T	0.23552	1.9	6.07	6.07	0.98685	.	0.172677	0.51477	D	0.000098	T	0.20007	0.0481	N	0.19112	0.55	0.45822	D	0.998697	B	0.12630	0.006	B	0.06405	0.002	T	0.09207	-1.0685	10	0.16896	T	0.51	-7.4814	20.6593	0.99626	0.0:1.0:0.0:0.0	.	133	Q5HY92	FIGN_HUMAN	T	133	ENSP00000333836:A133T	ENSP00000333836:A133T	A	-	1	0	FIGN	164176191	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.877000	0.63086	2.885000	0.99019	0.655000	0.94253	GCT		0.498	FIGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157220.2	NM_018086		80	230	0	0	0	0.870114	0	80	230					T	164467945	C	T	164467945	3	4	69	1	0	0	0	0	1	0	0	0	5891	797	28	3	1886	3	FIGN	2	164467945	Missense_Mutation	SNP	C	TCGA-EJ-5522-01A-01D-1576-08		164467945	78731428	3	3578											
ALS2	57679	broad.mit.edu	37	chr2	202626025	202626025	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctggctgcactggttgcatCgttctgggactggcttcaga	5	12	14	10	1	2	1	1	0	1	1	3	2	2	2	0	4	2	7	0	4	0	3			TCGA-EJ-5522-01A-01D-1576-08	TCGA-EJ-5522-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a89182-c17c-42a8-af9e-4fcc861e336c	9b4b6723-8e0e-4e98-a726-c023723e08b1	g.chr2:202626025C>A	ENST00000264276.6	-	4	1064	c.692G>T	c.(691-693)cGa>cTa	p.R231L	ALS2_ENST00000467448.1_Missense_Mutation_p.R231L|ALS2_ENST00000496244.1_5'Flank	NM_020919.3	NP_065970.2	Q96Q42	ALS2_HUMAN	amyotrophic lateral sclerosis 2 (juvenile)	231					behavioral fear response (GO:0001662)|cell death (GO:0008219)|endosomal transport (GO:0016197)|endosome organization (GO:0007032)|locomotory behavior (GO:0007626)|neuromuscular junction development (GO:0007528)|neuron projection morphogenesis (GO:0048812)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of Rab GTPase activity (GO:0032851)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rac protein signal transduction (GO:0035022)|positive regulation of Ran GTPase activity (GO:0032853)|protein localization (GO:0008104)|receptor recycling (GO:0001881)|regulation of endosome size (GO:0051036)|response to oxidative stress (GO:0006979)|synaptic transmission, glutamatergic (GO:0035249)|vesicle organization (GO:0016050)	centrosome (GO:0005813)|cytosol (GO:0005829)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|early endosome (GO:0005769)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|postsynaptic density (GO:0014069)|protein complex (GO:0043234)|ruffle (GO:0001726)|vesicle (GO:0031982)	protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activator activity (GO:0043539)|Rab GTPase binding (GO:0017137)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|Ran guanyl-nucleotide exchange factor activity (GO:0005087)	p.R231L(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(22)|ovary(1)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	72						CTGGTTGCATCGTTCTGGGAC	0.498																																						ENST00000264276.6																			1	Substitution - Missense(1)	p.R231L(1)	prostate(1)	NS(1)|breast(1)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(22)|ovary(1)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	72						c.(691-693)cGa>cTa		amyotrophic lateral sclerosis 2 (juvenile)							108	108	108					2																	202626025		2048	4198	6246	SO:0001583	missense	57679				cell death|endosome organization|positive regulation of Rac GTPase activity|regulation of endosome size	centrosome|cytosol|early endosome|growth cone|lamellipodium|protein complex|ruffle	protein homodimerization activity|protein serine/threonine kinase activator activity|Rab GTPase binding|Rab guanyl-nucleotide exchange factor activity|Rac guanyl-nucleotide exchange factor activity|Ran guanyl-nucleotide exchange factor activity	g.chr2:202626025C>A	AB053305	CCDS42800.1, CCDS46492.1	2q33-q35	2014-09-17	2004-06-23		ENSG00000003393	ENSG00000003393		"Rho guanine nucleotide exchange factors"	443	protein-coding gene	gene with protein product	"alsin"	606352	"amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 6"	ALS2CR6		11586298	Standard	NM_020919		Approved		uc002uyo.3	Q96Q42	OTTHUMG00000154507	ENST00000264276.6:c.692G>T	2.37:g.202626025C>A	ENSP00000264276:p.Arg231Leu					ALS2_ENST00000467448.1_Missense_Mutation_p.R231L	p.R231L	NM_020919.3	NP_065970.2	Q96Q42	ALS2_HUMAN			4	1064	-			231					Q53TT1|Q53TV2|Q8N1E0|Q96PC4|Q96Q41|Q9H973|Q9HCK9	Missense_Mutation	SNP	ENST00000264276.6	37	c.692G>T	CCDS42800.1	.	.	.	.	.	.	.	.	.	.	C	24.7	4.562798	0.86335	.	.	ENSG00000003393	ENST00000264276;ENST00000467448	T;T	0.56941	0.43;0.72	6.11	6.11	0.99139	.	0.103470	0.64402	D	0.000004	T	0.70211	0.3198	L	0.55481	1.735	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;0.987;0.971	D;D;P;P	0.87578	0.998;0.998;0.554;0.554	T	0.62831	-0.6771	10	0.33141	T	0.24	.	20.7342	0.99715	0.0:1.0:0.0:0.0	.	231;231;231;231	Q96Q42-2;Q96Q42-3;Q6IQ41;Q96Q42	.;.;.;ALS2_HUMAN	L	231	ENSP00000264276:R231L;ENSP00000429223:R231L	ENSP00000264276:R231L	R	-	2	0	ALS2	202334270	1.000000	0.71417	0.998000	0.56505	0.860000	0.49131	4.348000	0.59379	2.906000	0.99361	0.655000	0.94253	CGA		0.498	ALS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335562.3	NM_020919		5	121	1	0	0.184627	0.184627	0.198055	5	121					A	202626025	C	A	202626025	3	1	69	1	0	0	0	0	1	0	0	0	550	884	31	5	4483	5	ALS2	2	202626025	Missense_Mutation	SNP	C	TCGA-EJ-5522-01A-01D-1576-08	38158080	202626025	40573348	4	3579											
ANO7	50636	broad.mit.edu	37	chr2	242138766	242138766	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gggaacaccacagtgcactaCgccctcctcagcgcctcctg	8	6	9	18	2	1	0	1	0	0	0	3	1	3	1	5	1	4	1	5	1	2	1	rs371711409		TCGA-EJ-5522-01A-01D-1576-08	TCGA-EJ-5522-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a89182-c17c-42a8-af9e-4fcc861e336c	9b4b6723-8e0e-4e98-a726-c023723e08b1	g.chr2:242138766C>T	ENST00000274979.8	+	5	610	c.507C>T	c.(505-507)taC>taT	p.Y169Y	ANO7_ENST00000402430.3_Silent_p.Y168Y	NM_001001891.3	NP_001001891.2	Q6IWH7	ANO7_HUMAN	anoctamin 7	169					calcium activated galactosylceramide scrambling (GO:0061591)|calcium activated phosphatidylcholine scrambling (GO:0061590)|calcium activated phosphatidylserine scrambling (GO:0061589)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)|phospholipid scramblase activity (GO:0017128)	p.Y169Y(1)		NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(14)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	32						CAGTGCACTACGCCCTCCTCA	0.637																																						ENST00000274979.8																			1	Substitution - coding silent(1)	p.Y169Y(1)	prostate(1)	NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(14)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	32						c.(505-507)taC>taT		anoctamin 7		C		1,4405	2.1+/-5.4	0,1,2202	136	111	120		507	-0.6	0	2		120	4,8596	3.7+/-12.6	0,4,4296	no	coding-synonymous	ANO7	NM_001001891.3		0,5,6498	TT,TC,CC		0.0465,0.0227,0.0384		169/934	242138766	5,13001	2203	4300	6503	SO:0001819	synonymous_variant	50636					cell junction|chloride channel complex|cytosol	chloride channel activity	g.chr2:242138766C>T	AY617079	CCDS33423.1, CCDS46563.1	2q37.3	2014-04-09	2008-08-28	2008-08-28	ENSG00000146205	ENSG00000146205		"Ion channels / Chloride channels : Calcium activated : Anoctamins"	31677	protein-coding gene	gene with protein product		605096	"transmembrane protein 16G"	PCANAP5, TMEM16G		14981236, 15375614, 24692353	Standard	NM_001001891		Approved	NGEP, PCANAP5L, IPCA-5	uc002wax.2	Q6IWH7	OTTHUMG00000151702	ENST00000274979.8:c.507C>T	2.37:g.242138766C>T						ANO7_ENST00000402430.3_Silent_p.Y168Y	p.Y169Y	NM_001001891.3	NP_001001891.2	Q6IWH7	ANO7_HUMAN			5	610	+			169					Q6IWH6	Silent	SNP	ENST00000274979.8	37	c.507C>T	CCDS33423.1																																																																																				0.637	ANO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323509.1	NM_001001891		17	74	0	0	0	0.500413	0	17	74					T	242138766	C	T	242138766	2	4	69	1	0	0	0	0	0	0	0	1	702	547	19	1		1	ANO7	2	242138766	Silent	SNP	C	TCGA-EJ-5522-01A-01D-1576-08	39512741	242138766	1060607	5	3580											
ZNF197	10168	broad.mit.edu	37	chr3	44672664	44672664	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atagcagctgaaatttgcccGcatcctcctactgacctagt	10	11	7	13	1	0	2	0	2	0	0	2	2	2	2	4	0	4	3	4	0	4	4	rs150727145		TCGA-EJ-5522-01A-01D-1576-08	TCGA-EJ-5522-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a89182-c17c-42a8-af9e-4fcc861e336c	9b4b6723-8e0e-4e98-a726-c023723e08b1	g.chr3:44672664G>A	ENST00000396058.1	+	2	668	c.501G>A	c.(499-501)ccG>ccA	p.P167P	RP11-944L7.4_ENST00000457331.1_RNA|ZNF197_ENST00000383745.2_Silent_p.P167P|ZNF197_ENST00000344387.4_Silent_p.P167P|ZNF197_ENST00000383744.4_Silent_p.P167P			O14709	ZN197_HUMAN	zinc finger protein 197	167					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.P167P(2)		breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(1)	25				KIRC - Kidney renal clear cell carcinoma(197;0.0478)|Kidney(197;0.0598)		AAATTTGCCCGCATCCTCCTA	0.527													G|||	1	0.000199681	8e-04	0	5008	,	,		18920	0		0	False		,,,				2504	0					ENST00000396058.1																			2	Substitution - coding silent(2)	p.P167P(2)	prostate(1)|endometrium(1)	breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(1)	25						c.(499-501)ccG>ccA		zinc finger protein 197		G	,	5,4401	11.4+/-27.6	0,5,2198	152	121	132		501,501	-9	0	3	dbSNP_134	132	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	ZNF197	NM_001024855.1,NM_006991.3	,	0,5,6498	AA,AG,GG		0.0,0.1135,0.0384	,	167/268,167/1030	44672664	5,13001	2203	4300	6503	SO:0001819	synonymous_variant	10168				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr3:44672664G>A	AF011573	CCDS2717.1, CCDS33743.1	3p21	2013-01-09	2003-10-07		ENSG00000186448	ENSG00000186448		"Zinc fingers, C2H2-type", "-", "-", "-"	12988	protein-coding gene	gene with protein product			"zinc finger protein 166"	ZNF166		9380504, 8353497	Standard	XM_005264783		Approved	P18, D3S1363E, ZKSCAN9, ZSCAN41	uc003cnm.3	O14709	OTTHUMG00000133089	ENST00000396058.1:c.501G>A	3.37:g.44672664G>A						ZNF197_ENST00000344387.4_Silent_p.P167P|ZNF197_ENST00000383745.2_Silent_p.P167P|ZNF197_ENST00000383744.4_Silent_p.P167P|RP11-944L7.4_ENST00000457331.1_RNA	p.P167P			O14709	ZN197_HUMAN		KIRC - Kidney renal clear cell carcinoma(197;0.0478)|Kidney(197;0.0598)	2	668	+			167					B2RAH8|Q86VG0	Silent	SNP	ENST00000396058.1	37	c.501G>A	CCDS2717.1																																																																																				0.527	ZNF197-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256747.4	NM_006991		4	179	0	0	0	0.150653	0	4	179					A	44672664	G	A	44672664	2	1	69	1	0	0	0	0	0	0	0	1	17756	1074	38	1		1	ZNF197	3	44672664	Silent	SNP	G	TCGA-EJ-5522-01A-01D-1576-08		44672664	153349766	6	3581											
LRRC2	79442	broad.mit.edu	37	chr3	46592966	46592966	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aaaacacgtacttctccaagGcgctcttctcaagcctttcc	10	11	5	15	2	3	0	1	0	3	0	6	0	4	0	3	1	3	2	3	1	5	4			TCGA-EJ-5522-01A-01D-1576-08	TCGA-EJ-5522-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a89182-c17c-42a8-af9e-4fcc861e336c	9b4b6723-8e0e-4e98-a726-c023723e08b1	g.chr3:46592966G>A	ENST00000395905.3	-	2	508	c.116C>T	c.(115-117)gCc>gTc	p.A39V	LRRC2_ENST00000496388.1_Intron|LRRC2_ENST00000296144.3_Missense_Mutation_p.A39V|AC104304.2_ENST00000583198.1_RNA	NM_024512.4	NP_078788.2	Q9BYS8	LRRC2_HUMAN	leucine rich repeat containing 2	39								p.A39V(1)		breast(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)	17		Ovarian(412;0.0563)		OV - Ovarian serous cystadenocarcinoma(275;6.37e-05)|BRCA - Breast invasive adenocarcinoma(193;0.00133)|KIRC - Kidney renal clear cell carcinoma(197;0.0214)|Kidney(197;0.0254)		CTTCTCCAAGGCGCTCTTCTC	0.468																																						ENST00000395905.3																			1	Substitution - Missense(1)	p.A39V(1)	prostate(1)	breast(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)	17						c.(115-117)gCc>gTc		leucine rich repeat containing 2							132	134	133					3																	46592966		2203	4300	6503	SO:0001583	missense	79442							g.chr3:46592966G>A	AJ308569	CCDS2741.1	3p21.3	2014-07-30	2003-11-19		ENSG00000163827	ENSG00000163827			14676	protein-coding gene	gene with protein product		607180	"leucine-rich repeat-containing 2"			11896456	Standard	NM_024512		Approved		uc010hji.3	Q9BYS8	OTTHUMG00000133479	ENST00000395905.3:c.116C>T	3.37:g.46592966G>A	ENSP00000379241:p.Ala39Val					LRRC2_ENST00000496388.1_Intron|LRRC2_ENST00000296144.3_Missense_Mutation_p.A39V	p.A39V	NM_024512.4	NP_078788.2	Q9BYS8	LRRC2_HUMAN		OV - Ovarian serous cystadenocarcinoma(275;6.37e-05)|BRCA - Breast invasive adenocarcinoma(193;0.00133)|KIRC - Kidney renal clear cell carcinoma(197;0.0214)|Kidney(197;0.0254)	2	508	-		Ovarian(412;0.0563)	39					B2RDQ7|Q96LT5	Missense_Mutation	SNP	ENST00000395905.3	37	c.116C>T	CCDS2741.1	.	.	.	.	.	.	.	.	.	.	G	15.93	2.979296	0.53827	.	.	ENSG00000163827	ENST00000395905;ENST00000296144	T;T	0.19532	2.14;2.14	4.73	4.73	0.59995	.	0.000000	0.64402	D	0.000013	T	0.33904	0.0879	L	0.32530	0.975	0.53005	D	0.999963	D	0.76494	0.999	D	0.78314	0.991	T	0.01520	-1.1334	10	0.28530	T	0.3	.	15.6094	0.76704	0.0:0.0:1.0:0.0	.	39	Q9BYS8	LRRC2_HUMAN	V	39	ENSP00000379241:A39V;ENSP00000296144:A39V	ENSP00000296144:A39V	A	-	2	0	LRRC2	46567970	0.982000	0.34865	0.187000	0.23214	0.072000	0.16883	5.919000	0.70005	2.624000	0.88883	0.655000	0.94253	GCC		0.468	LRRC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257375.2			4	164	0	0	0	0.150653	0	4	164					A	46592966	G	A	46592966	3	1	69	1	0	0	0	0	1	0	0	0	8976	1203	42	3	1031	3	LRRC2	3	46592966	Missense_Mutation	SNP	G	TCGA-EJ-5522-01A-01D-1576-08	1920302	46592966	151429464	7	3582											
DOCK3	1795	broad.mit.edu	37	chr3	51413195	51413195	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcagccgccgaatttccagcGagccctgttccagcaagtgg	8	8	11	14	3	1	0	1	0	0	0	3	2	3	0	5	1	4	2	5	1	2	2			TCGA-EJ-5522-01A-01D-1576-08	TCGA-EJ-5522-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a89182-c17c-42a8-af9e-4fcc861e336c	9b4b6723-8e0e-4e98-a726-c023723e08b1	g.chr3:51413195G>A	ENST00000266037.9	+	51	5452	c.5429G>A	c.(5428-5430)cGa>cAa	p.R1810Q		NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	1810					small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)	p.R1810Q(2)|p.R1799Q(1)		breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		AATTTCCAGCGAGCCCTGTTC	0.527																																						ENST00000266037.9																			3	Substitution - Missense(3)	p.R1810Q(2)|p.R1799Q(1)	prostate(3)	breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45						c.(5428-5430)cGa>cAa		dedicator of cytokinesis 3							114	126	122					3																	51413195		2071	4189	6260	SO:0001583	missense	1795					cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding	g.chr3:51413195G>A	AB002297	CCDS46835.1	3p21	2008-02-01			ENSG00000088538	ENSG00000088538			2989	protein-coding gene	gene with protein product		603123	"dedicator of cyto-kinesis 3"			9205841	Standard	NM_004947		Approved	KIAA0299, MOCA, PBP	uc011bds.2	Q8IZD9	OTTHUMG00000156892	ENST00000266037.9:c.5429G>A	3.37:g.51413195G>A	ENSP00000266037:p.Arg1810Gln						p.R1810Q	NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)	51	5452	+			1810					O15017	Missense_Mutation	SNP	ENST00000266037.9	37	c.5429G>A	CCDS46835.1	.	.	.	.	.	.	.	.	.	.	G	15.17	2.754811	0.49362	.	.	ENSG00000088538	ENST00000266037	T	0.57752	0.38	5.11	4.23	0.50019	.	0.075264	0.49916	D	0.000124	T	0.52289	0.1725	M	0.68317	2.08	0.49915	D	0.999837	P	0.52061	0.95	B	0.40864	0.342	T	0.60296	-0.7291	10	0.56958	D	0.05	.	15.5465	0.76104	0.0:0.1386:0.8614:0.0	.	1810	Q8IZD9	DOCK3_HUMAN	Q	1810	ENSP00000266037:R1810Q	ENSP00000266037:R1810Q	R	+	2	0	DOCK3	51388235	1.000000	0.71417	1.000000	0.80357	0.200000	0.23975	7.141000	0.77330	1.129000	0.42072	0.655000	0.94253	CGA		0.527	DOCK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346478.5	NM_004947		6	220	0	0	0	0.217242	0	6	220					A	51413195	G	A	51413195	3	1	69	1	0	0	0	0	1	0	0	0	4688	1058	37	2	5631	2	DOCK3	3	51413195	Missense_Mutation	SNP	G	TCGA-EJ-5522-01A-01D-1576-08	4820229	51413195	146609235	8	3583											
EBLN2	55096	broad.mit.edu	37	chr3	73111759	73111759	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	agatatgcctaactttattgCccttgagaagtcatcagttc	11	14	7	9	0	2	2	2	1	0	2	3	3	2	2	2	0	3	1	2	0	4	7			TCGA-EJ-5522-01A-01D-1576-08	TCGA-EJ-5522-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a89182-c17c-42a8-af9e-4fcc861e336c	9b4b6723-8e0e-4e98-a726-c023723e08b1	g.chr3:73111759C>T	ENST00000533473.1	+	1	950	c.527C>T	c.(526-528)gCc>gTc	p.A176V	PPP4R2_ENST00000295862.9_Intron|PPP4R2_ENST00000394284.3_Intron|PPP4R2_ENST00000356692.5_Intron	NM_018029.3	NP_060499.3	Q6P2I7	EBLN2_HUMAN	endogenous Bornavirus-like nucleoprotein 2	176				A -> G (in Ref. 1; AAK83528). {ECO:0000305}.				p.A176V(1)		endometrium(1)|large_intestine(3)|lung(1)|prostate(1)	6						AACTTTATTGCCCTTGAGAAG	0.463																																						ENST00000533473.1																			1	Substitution - Missense(1)	p.A176V(1)	prostate(1)	endometrium(1)|large_intestine(3)|lung(1)|prostate(1)	6						c.(526-528)gCc>gTc		endogenous Bornavirus-like nucleoprotein 2							68	68	68					3																	73111759		1984	4155	6139	SO:0001583	missense	55096						protein binding	g.chr3:73111759C>T		CCDS54608.1	3p13	2011-06-03			ENSG00000255423	ENSG00000255423			25493	protein-coding gene	gene with protein product	"endogenous Borna-like N element 2"	613250				20054395, 20686665	Standard	NM_018029		Approved		uc003dpj.3	Q6P2I7	OTTHUMG00000165897	ENST00000533473.1:c.527C>T	3.37:g.73111759C>T	ENSP00000432104:p.Ala176Val					PPP4R2_ENST00000356692.5_Intron|PPP4R2_ENST00000295862.9_Intron|PPP4R2_ENST00000394284.3_Intron	p.A176V	NM_018029.3	NP_060499.3	Q6P2I7	EBLN2_HUMAN			1	950	+			176	A -> G (in Ref. 1; AAK83528).				Q8WWH3|Q9NW89	Missense_Mutation	SNP	ENST00000533473.1	37	c.527C>T	CCDS54608.1	.	.	.	.	.	.	.	.	.	.	C	10.53	1.376358	0.24857	.	.	ENSG00000255423	ENST00000533473	.	.	.	0.468	-0.567	0.11763	P40 nucleoprotein, subdomain 1, Borna disease virus (1);	.	.	.	.	T	0.35219	0.0924	N	0.19112	0.55	0.09310	N	1	D	0.62365	0.991	D	0.63793	0.918	T	0.20505	-1.0273	7	0.48119	T	0.1	.	.	.	.	.	176	Q6P2I7	EBLN2_HUMAN	V	176	.	ENSP00000432104:A176V	A	+	2	0	EBLN2	73194449	0.496000	0.26059	0.008000	0.14137	0.007000	0.05969	-0.637000	0.05459	-0.332000	0.08489	-0.332000	0.08345	GCC		0.463	EBLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386932.1	NM_018029		4	131	0	0	0	0.184627	0	4	131					T	73111759	C	T	73111759	3	4	69	1	0	0	0	0	1	0	0	0	4884	739	26	3	529	3	EBLN2	3	73111759	Missense_Mutation	SNP	C	TCGA-EJ-5522-01A-01D-1576-08	21698564	73111759	124910671	9	3584											
ROBO2	6092	broad.mit.edu	37	chr3	77147227	77147227	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcatccttccgatgtcatcGtctctaagggcgagcccacg	8	9	10	14	4	2	0	1	0	1	0	6	2	4	0	3	1	2	1	3	1	1	2			TCGA-EJ-5522-01A-01D-1576-08	TCGA-EJ-5522-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a89182-c17c-42a8-af9e-4fcc861e336c	9b4b6723-8e0e-4e98-a726-c023723e08b1	g.chr3:77147227G>A	ENST00000461745.1	+	2	1024	c.124G>A	c.(124-126)Gtc>Atc	p.V42I	ROBO2_ENST00000332191.8_Missense_Mutation_p.V42I|ROBO2_ENST00000487694.3_Missense_Mutation_p.V58I	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	42	Ig-like C2-type 1.				apoptotic process involved in luteolysis (GO:0061364)|axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|brain development (GO:0007420)|cellular response to hormone stimulus (GO:0032870)|central nervous system development (GO:0007417)|homophilic cell adhesion (GO:0007156)|metanephros development (GO:0001656)|negative regulation of negative chemotaxis (GO:0050925)|negative regulation of synapse assembly (GO:0051964)|olfactory bulb interneuron development (GO:0021891)|positive regulation of axonogenesis (GO:0050772)|retinal ganglion cell axon guidance (GO:0031290)|ureteric bud development (GO:0001657)	axolemma (GO:0030673)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	axon guidance receptor activity (GO:0008046)|identical protein binding (GO:0042802)	p.V42I(1)|p.V58I(1)		NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		CGATGTCATCGTCTCTAAGGG	0.547																																						ENST00000461745.1																			2	Substitution - Missense(2)	p.V42I(1)|p.V58I(1)	prostate(2)	NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117						c.(124-126)Gtc>Atc		roundabout, axon guidance receptor, homolog 2 (Drosophila)							46	50	49					3																	77147227		1960	4140	6100	SO:0001583	missense	6092				apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding	g.chr3:77147227G>A	AF040991	CCDS43109.1, CCDS54609.1	3p12.3	2013-02-11	2001-11-28		ENSG00000185008	ENSG00000185008		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	10250	protein-coding gene	gene with protein product		602431	"roundabout (axon guidance receptor, Drosophila) homolog 2"			9458045	Standard	NM_002942		Approved	KIAA1568	uc003dpy.4	Q9HCK4	OTTHUMG00000158935	ENST00000461745.1:c.124G>A	3.37:g.77147227G>A	ENSP00000417164:p.Val42Ile					ROBO2_ENST00000487694.3_Missense_Mutation_p.V58I|ROBO2_ENST00000332191.8_Missense_Mutation_p.V42I	p.V42I	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN		Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)	2	1024	+			42			Ig-like C2-type 1.		O43608|Q19AB4|Q19AB5	Missense_Mutation	SNP	ENST00000461745.1	37	c.124G>A	CCDS43109.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.962860	0.74016	.	.	ENSG00000185008	ENST00000487694;ENST00000403211;ENST00000343019;ENST00000461745;ENST00000332191	T;T;T	0.70282	-0.47;-0.47;-0.47	4.96	4.96	0.65561	Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.34879	U	0.003604	T	0.79064	0.4383	L	0.38953	1.18	0.43107	D	0.994806	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.997;0.995;0.998	T	0.81611	-0.0854	9	0.72032	D	0.01	.	18.2024	0.89843	0.0:0.0:1.0:0.0	.	58;42;42	Q19AB5;F8W703;Q9HCK4	.;.;ROBO2_HUMAN	I	58;58;58;42;42	ENSP00000417335:V58I;ENSP00000417164:V42I;ENSP00000327536:V42I	ENSP00000327536:V42I	V	+	1	0	ROBO2	77229917	1.000000	0.71417	0.983000	0.44433	0.027000	0.11550	9.864000	0.99589	2.283000	0.76528	0.655000	0.94253	GTC		0.547	ROBO2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000352600.2	XM_031246		12	36	0	0	0	0.38729	0	12	36					A	77147227	G	A	77147227	3	1	69	1	0	0	0	0	1	0	0	0	13514	1145	40	1	132	1	ROBO2	3	77147227	Missense_Mutation	SNP	G	TCGA-EJ-5522-01A-01D-1576-08	4035468	77147227	120875203	10	3585											
OCIAD1	54940	broad.mit.edu	37	chr4	48851971	48851971	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttttacaaataagttgcttgTatcatgggatactttgctgg	10	17	9	5	0	1	0	1	0	0	0	1	1	1	1	0	2	4	4	0	2	5	8			TCGA-EJ-5522-01A-01D-1576-08	TCGA-EJ-5522-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a89182-c17c-42a8-af9e-4fcc861e336c	9b4b6723-8e0e-4e98-a726-c023723e08b1	g.chr4:48851971T>C	ENST00000381473.3	+	6	667	c.249T>C	c.(247-249)tgT>tgC	p.C83C	OCIAD1_ENST00000512981.1_3'UTR|OCIAD1_ENST00000506801.1_Silent_p.C29C|OCIAD1_ENST00000396448.2_Silent_p.C83C|OCIAD1_ENST00000425583.2_Silent_p.C83C|OCIAD1_ENST00000508293.1_Silent_p.C83C|OCIAD1_ENST00000509122.1_Silent_p.C56C|OCIAD1_ENST00000264312.7_Silent_p.C83C|OCIAD1_ENST00000444354.2_Silent_p.C83C|OCIAD1-AS1_ENST00000513576.1_RNA|OCIAD1_ENST00000513391.2_Silent_p.C83C	NM_001079839.2	NP_001073308.1	Q9NX40	OCAD1_HUMAN	OCIA domain containing 1	83	OCIA.					endosome (GO:0005768)|membrane (GO:0016020)|mitochondrion (GO:0005739)		p.C83C(1)		breast(2)|large_intestine(2)|lung(2)|prostate(1)|skin(2)	9						AAGTTGCTTGTATCATGGGAT	0.318																																						ENST00000425583.2																			1	Substitution - coding silent(1)	p.C83C(1)	prostate(1)	breast(2)|large_intestine(2)|lung(2)|prostate(1)|skin(2)	9						c.(247-249)tgT>tgC		OCIA domain containing 1							55	60	58					4																	48851971		2203	4300	6503	SO:0001819	synonymous_variant	54940					endosome	protein binding	g.chr4:48851971T>C	AF324350	CCDS3484.1, CCDS43228.1, CCDS47052.1	4p11	2010-03-19			ENSG00000109180	ENSG00000109180			16074	protein-coding gene	gene with protein product						11162530, 18328549	Standard	NM_017830		Approved	FLJ20455, TPA018, OCIA, Asrij	uc010igk.3	Q9NX40	OTTHUMG00000102095	ENST00000381473.3:c.249T>C	4.37:g.48851971T>C						OCIAD1_ENST00000512981.1_3'UTR|OCIAD1_ENST00000508293.1_Silent_p.C83C|OCIAD1_ENST00000396448.2_Silent_p.C83C|OCIAD1_ENST00000264312.7_Silent_p.C83C|OCIAD1_ENST00000513391.2_Silent_p.C83C|OCIAD1_ENST00000444354.2_Silent_p.C83C|OCIAD1_ENST00000381473.3_Silent_p.C83C|OCIAD1_ENST00000506801.1_Silent_p.C29C|OCIAD1_ENST00000509122.1_Silent_p.C56C	p.C83C	NM_001079842.2	NP_001073311.2	Q9NX40	OCAD1_HUMAN			6	524	+			83			OCIA.		C9K030|G8JLN7|Q9BZE8	Silent	SNP	ENST00000381473.3	37	c.249T>C	CCDS3484.1																																																																																				0.318	OCIAD1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361812.3	NM_017830		39	128	0	0	0	0.812448	0	39	128					C	48851971	T	C	48851971	2	2	69	1	0	0	0	0	0	0	0	1	10817	1644	57	4		4	OCIAD1	4	48851971	Silent	SNP	T	TCGA-EJ-5522-01A-01D-1576-08		48851971	142302305	11	3586											
HMGCR	3156	broad.mit.edu	37	chr5	74646121	74646121	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gagggtcgtccaatttggcaGctcagccattttgcccgagt	7	11	12	11	2	1	0	1	0	0	0	3	2	2	0	3	2	3	2	3	2	1	3			TCGA-EJ-5522-01A-01D-1576-08	TCGA-EJ-5522-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a89182-c17c-42a8-af9e-4fcc861e336c	9b4b6723-8e0e-4e98-a726-c023723e08b1	g.chr5:74646121G>A	ENST00000287936.4	+	8	858	c.702G>A	c.(700-702)caG>caA	p.Q234Q	HMGCR_ENST00000511206.1_Silent_p.Q234Q|HMGCR_ENST00000343975.5_Silent_p.Q234Q	NM_000859.2	NP_000850.1	P04035	HMDH_HUMAN	3-hydroxy-3-methylglutaryl-CoA reductase	234					aging (GO:0007568)|cellular lipid metabolic process (GO:0044255)|cholesterol biosynthetic process (GO:0006695)|coenzyme A metabolic process (GO:0015936)|isoprenoid biosynthetic process (GO:0008299)|myoblast differentiation (GO:0045445)|negative regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061179)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of striated muscle cell apoptotic process (GO:0010664)|negative regulation of vasodilation (GO:0045908)|negative regulation of wound healing (GO:0061045)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of skeletal muscle tissue development (GO:0048643)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein tetramerization (GO:0051262)|response to ethanol (GO:0045471)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)|ubiquinone metabolic process (GO:0006743)|visual learning (GO:0008542)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|peroxisomal membrane (GO:0005778)	coenzyme binding (GO:0050662)|hydroxymethylglutaryl-CoA reductase (NADPH) activity (GO:0004420)|hydroxymethylglutaryl-CoA reductase activity (GO:0042282)|NADPH binding (GO:0070402)	p.Q234Q(1)		breast(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	20		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Prostate(461;0.174)		OV - Ovarian serous cystadenocarcinoma(47;2.24e-54)	Atorvastatin(DB01076)|Fluvastatin(DB01095)|Lovastatin(DB00227)|Pitavastatin(DB08860)|Pravastatin(DB00175)|Rosuvastatin(DB01098)|Simvastatin(DB00641)	CAATTTGGCAGCTCAGCCATT	0.413																																						ENST00000287936.4																			1	Substitution - coding silent(1)	p.Q234Q(1)	prostate(1)	breast(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	20						c.(700-702)caG>caA		3-hydroxy-3-methylglutaryl-CoA reductase	Atorvastatin(DB01076)|Bezafibrate(DB01393)|Cerivastatin(DB00439)|Fluvastatin(DB01095)|Lovastatin(DB00227)|NADH(DB00157)|Pravastatin(DB00175)|Rosuvastatin(DB01098)|Simvastatin(DB00641)						64	67	66					5																	74646121		2203	4300	6503	SO:0001819	synonymous_variant	3156				cholesterol biosynthetic process|coenzyme A metabolic process|germ cell migration|gonad development|isoprenoid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|peroxisomal membrane	hydroxymethylglutaryl-CoA reductase (NADPH) activity|NADP binding	g.chr5:74646121G>A		CCDS4027.1, CCDS47234.1	5q13.3-q14	2012-10-02	2010-04-30		ENSG00000113161	ENSG00000113161	1.1.1.88, 1.1.1.34		5006	protein-coding gene	gene with protein product	"hydroxymethylglutaryl-CoA reductase", "3-hydroxy-3-methylglutaryl CoA reductase (NADPH)"	142910	"3-hydroxy-3-methylglutaryl-Coenzyme A reductase"				Standard	NM_000859		Approved		uc003kdp.3	P04035	OTTHUMG00000102069	ENST00000287936.4:c.702G>A	5.37:g.74646121G>A						HMGCR_ENST00000511206.1_Silent_p.Q234Q|HMGCR_ENST00000343975.5_Silent_p.Q234Q	p.Q234Q	NM_000859.2	NP_000850.1	P04035	HMDH_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;2.24e-54)	8	858	+		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Prostate(461;0.174)	234					B7Z3Y9|Q8N190	Silent	SNP	ENST00000287936.4	37	c.702G>A	CCDS4027.1																																																																																				0.413	HMGCR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219877.2			3	101	0	0	0	0.115264	0	3	101					A	74646121	G	A	74646121	2	1	69	1	0	0	0	0	0	0	0	1	7231	962	34	3		3	HMGCR	5	74646121	Silent	SNP	G	TCGA-EJ-5522-01A-01D-1576-08		74646121	106269139	12	3587											
PCDHGA3	56112	broad.mit.edu	37	chr5	140725403	140725403	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gacagagactcgggccagaaCgcctggctgtcctaccgcct	8	6	12	15	3	0	2	0	0	0	2	2	4	1	2	5	2	2	1	5	2	2	1			TCGA-EJ-5522-01A-01D-1576-08	TCGA-EJ-5522-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a89182-c17c-42a8-af9e-4fcc861e336c	9b4b6723-8e0e-4e98-a726-c023723e08b1	g.chr5:140725403C>T	ENST00000253812.6	+	1	1803	c.1803C>T	c.(1801-1803)aaC>aaT	p.N601N	PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018916.3|NM_032011.1	NP_061739.2|NP_114400.1	Q9Y5H0	PCDG3_HUMAN	protocadherin gamma subfamily A, 3	601	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.N601N(1)		breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGGGCCAGAACGCCTGGCTGT	0.697																																						ENST00000253812.6																			1	Substitution - coding silent(1)	p.N601N(1)	prostate(1)	breast(1)	1						c.(1801-1803)aaC>aaT									17	21	20					5																	140725403		2166	4260	6426	SO:0001819	synonymous_variant	0							g.chr5:140725403C>T	AF152510	CCDS47290.1, CCDS75329.1	5q31	2010-01-26			ENSG00000254245	ENSG00000254245		"Cadherins / Protocadherins : Clustered"	8701	other	protocadherin		606290				10380929	Standard	NM_032011		Approved	PCDH-GAMMA-A3		Q9Y5H0	OTTHUMG00000163680	ENST00000253812.6:c.1803C>T	5.37:g.140725403C>T						PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron	p.N601N	NM_018916.3|NM_032011.1	NP_061739.2|NP_114400.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1803	+								Q9Y5D4	Silent	SNP	ENST00000253812.6	37	c.1803C>T	CCDS47290.1																																																																																				0.697	PCDHGA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377017.1	NM_018916		11	39	0	0	0	0.557998	0	11	39					T	140725403	C	T	140725403	2	4	69	1	0	0	0	0	0	0	0	1	11555	535	19	1		1	PCDHGA3	5	140725403	Silent	SNP	C	TCGA-EJ-5522-01A-01D-1576-08	66079282	140725403	40189857	13	3588											
PCDHGA4	56111	broad.mit.edu	37	chr5	140735373	140735373	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggaacgcgctctagatcgCgaggaagaggcggttcacca	10	6	14	11	5	2	2	1	0	1	2	3	5	2	4	1	4	1	2	1	4	3	2			TCGA-EJ-5522-01A-01D-1576-08	TCGA-EJ-5522-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a89182-c17c-42a8-af9e-4fcc861e336c	9b4b6723-8e0e-4e98-a726-c023723e08b1	g.chr5:140735373C>T	ENST00000571252.1	+	1	606	c.606C>T	c.(604-606)cgC>cgT	p.R202R	PCDHGA1_ENST00000517417.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron	NM_018917.2	NP_061740	Q9Y5G9	PCDG4_HUMAN	protocadherin gamma subfamily A, 4	202	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTCTAGATCGCGAGGAAGAGG	0.552																																						ENST00000571252.1																			0				endometrium(1)|kidney(1)|lung(3)	5						c.(604-606)cgC>cgT									24	27	26					5																	140735373		2166	4283	6449	SO:0001819	synonymous_variant	0							g.chr5:140735373C>T	AF152511	CCDS58979.1, CCDS58979.2, CCDS75331.1	5q31	2010-01-26						"Cadherins / Protocadherins : Clustered"	8702	other	protocadherin		606291				10380929	Standard	NM_018917		Approved	PCDH-GAMMA-A4		Q9Y5G9		ENST00000571252.1:c.606C>T	5.37:g.140735373C>T						PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron	p.R202R	NM_018917.2	NP_061740.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	606	+								Q9Y5D3	Silent	SNP	ENST00000571252.1	37	c.606C>T	CCDS58979.1																																																																																				0.552	PCDHGA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437959.1	NM_018917		6	21	0	0	0	0.27861	0	6	21					T	140735373	C	T	140735373	2	4	69	1	0	0	0	0	0	0	0	1	11556	755	27	1		1	PCDHGA4	5	140735373	Silent	SNP	C	TCGA-EJ-5522-01A-01D-1576-08	9970	140735373	40179887	14	3589											
KCTD16	57528	broad.mit.edu	37	chr5	143586927	143586927	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgaaagcagagaccctgatcGagccccagaaagatacacct	15	5	9	12	1	0	5	0	2	0	3	1	7	0	5	4	0	3	1	4	0	3	1			TCGA-EJ-5522-01A-01D-1576-08	TCGA-EJ-5522-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a89182-c17c-42a8-af9e-4fcc861e336c	9b4b6723-8e0e-4e98-a726-c023723e08b1	g.chr5:143586927G>A	ENST00000507359.3	+	2	1741	c.650G>A	c.(649-651)cGa>cAa	p.R217Q	KCTD16_ENST00000512467.1_Missense_Mutation_p.R217Q	NM_020768.3	NP_065819.1	Q68DU8	KCD16_HUMAN	potassium channel tetramerization domain containing 16	217					protein homooligomerization (GO:0051260)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|receptor complex (GO:0043235)		p.R217Q(1)		large_intestine(5)|lung(9)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	21		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176)			GACCCTGATCGAGCCCCAGAA	0.453																																						ENST00000507359.2																			1	Substitution - Missense(1)	p.R217Q(1)	prostate(1)	large_intestine(5)|lung(9)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	21						c.(649-651)cGa>cAa		potassium channel tetramerization domain containing 16							58	63	62					5																	143586927		2203	4300	6503	SO:0001583	missense	57528					cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr5:143586927G>A	AB037738	CCDS34260.1	5q32	2013-06-20	2013-06-20		ENSG00000183775	ENSG00000183775			29244	protein-coding gene	gene with protein product		613423	"potassium channel tetramerisation domain containing 16"			10718198	Standard	NM_020768		Approved	KIAA1317	uc003lnm.1	Q68DU8	OTTHUMG00000163172	ENST00000507359.3:c.650G>A	5.37:g.143586927G>A	ENSP00000426548:p.Arg217Gln					KCTD16_ENST00000512467.1_Missense_Mutation_p.R217Q	p.R217Q	NM_020768.3	NP_065819.1	Q68DU8	KCD16_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176)		2	1741	+		all_hematologic(541;0.118)	217					Q9P2M9	Missense_Mutation	SNP	ENST00000507359.3	37	c.650G>A	CCDS34260.1	.	.	.	.	.	.	.	.	.	.	G	25.4	4.634428	0.87660	.	.	ENSG00000183775	ENST00000512467;ENST00000507359	T;T	0.50277	0.75;0.75	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	T	0.70133	0.3189	M	0.74881	2.28	0.54753	D	0.999984	D	0.76494	0.999	D	0.72625	0.978	T	0.69105	-0.5233	10	0.46703	T	0.11	.	19.8182	0.96579	0.0:0.0:1.0:0.0	.	217	Q68DU8	KCD16_HUMAN	Q	217	ENSP00000424151:R217Q;ENSP00000426548:R217Q	ENSP00000426548:R217Q	R	+	2	0	KCTD16	143567120	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	9.807000	0.99171	2.700000	0.92200	0.561000	0.74099	CGA		0.453	KCTD16-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371898.3	XM_098368		6	141	0	0	0	0.335167	0	6	141					A	143586927	G	A	143586927	3	1	69	1	0	0	0	0	1	0	0	0	8103	1058	37	2	652	2	KCTD16	5	143586927	Missense_Mutation	SNP	G	TCGA-EJ-5522-01A-01D-1576-08	2851554	143586927	37328333	15	3590											
BTNL8	79908	broad.mit.edu	37	chr5	180338568	180338568	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	agcatatcctgttccatgcgGcatgctcatctgagccgaga	9	10	10	12	2	2	2	1	1	1	1	4	3	4	2	3	1	4	4	3	1	1	2			TCGA-EJ-5522-01A-01D-1576-08	TCGA-EJ-5522-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a89182-c17c-42a8-af9e-4fcc861e336c	9b4b6723-8e0e-4e98-a726-c023723e08b1	g.chr5:180338568G>A	ENST00000340184.4	+	3	833	c.627G>A	c.(625-627)cgG>cgA	p.R209R	BTNL8_ENST00000533815.2_Silent_p.R25R|Y_RNA_ENST00000410920.1_RNA|BTNL8_ENST00000231229.4_Silent_p.R209R|BTNL8_ENST00000400707.3_Silent_p.R84R|BTNL8_ENST00000505126.1_Silent_p.R2R|BTNL8_ENST00000511704.1_Silent_p.R93R|BTNL8_ENST00000508408.1_Silent_p.R209R	NM_001040462.2	NP_001035552.1	Q6UX41	BTNL8_HUMAN	butyrophilin-like 8	209	Ig-like V-type 2.				immune system process (GO:0002376)	integral component of membrane (GO:0016021)				breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	28	all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GTTCCATGCGGCATGCTCATC	0.552																																						ENST00000231229.4																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	28						c.(625-627)cgG>cgA		butyrophilin-like 8							67	67	67					5																	180338568		2203	4296	6499	SO:0001819	synonymous_variant	79908					integral to membrane		g.chr5:180338568G>A	AK025111	CCDS4459.1, CCDS43413.1, CCDS54956.1, CCDS54957.1, CCDS54958.1, CCDS54959.1	5q35.3	2014-01-14			ENSG00000113303	ENSG00000113303		"Immunoglobulin superfamily / V-set domain containing", "Butyrophilins"	26131	protein-coding gene	gene with protein product		615606				12975309	Standard	NM_024850		Approved	FLJ21458, BTN9.2	uc003mmp.3	Q6UX41	OTTHUMG00000130932	ENST00000340184.4:c.627G>A	5.37:g.180338568G>A						BTNL8_ENST00000400707.3_Silent_p.R84R|BTNL8_ENST00000340184.4_Silent_p.R209R|BTNL8_ENST00000511704.1_Silent_p.R93R|BTNL8_ENST00000533815.2_Silent_p.R25R|BTNL8_ENST00000508408.1_Silent_p.R209R|BTNL8_ENST00000505126.1_Silent_p.R2R	p.R209R	NM_001159708.1|NM_024850.2	NP_001153180.1|NP_079126.1	Q6UX41	BTNL8_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		3	861	+	all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	209			Ig-like V-type 2.		A4QMZ8|A6NEX6|B7Z409|B7Z5B1|E9PEF6|E9PG07|F2Z2B2|F8W712|Q9H730	Silent	SNP	ENST00000340184.4	37	c.627G>A	CCDS43413.1																																																																																				0.552	BTNL8-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000368440.1	NM_024850		4	164	0	0	0	0.150653	0	4	164					A	180338568	G	A	180338568	2	1	69	1	0	0	0	0	0	0	0	1	1567	1190	42	3		3	BTNL8	5	180338568	Silent	SNP	G	TCGA-EJ-5522-01A-01D-1576-08	36751641	180338568	576692	16	3591											
CYP21A2	1589	broad.mit.edu	37	chr6	32008267	32008267	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcccctacaaggaccgtgcaCggctgcccttgctcaatgcc	7	8	9	17	2	1	0	1	0	0	0	2	1	2	1	5	2	5	3	5	2	3	2			TCGA-EJ-5522-01A-01D-1576-08	TCGA-EJ-5522-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a89182-c17c-42a8-af9e-4fcc861e336c	9b4b6723-8e0e-4e98-a726-c023723e08b1	g.chr6:32008267C>T	ENST00000418967.2	+	8	1182	c.1024C>T	c.(1024-1026)Cgg>Tgg	p.R342W	CYP21A2_ENST00000435122.2_Missense_Mutation_p.R312W	NM_000500.7	NP_000491.4	P08686	CP21A_HUMAN	cytochrome P450, family 21, subfamily A, polypeptide 2	341	Steroid-binding. {ECO:0000250}.				glucocorticoid biosynthetic process (GO:0006704)|mineralocorticoid biosynthetic process (GO:0006705)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|steroid 21-monooxygenase activity (GO:0004509)|steroid binding (GO:0005496)|steroid hydroxylase activity (GO:0008395)	p.R342W(1)		NS(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	11					Ketoconazole(DB01026)	GGACCGTGCACGGCTGCCCTT	0.667																																					Melanoma(174;1669 1998 3915 34700 46447)	ENST00000418967.2																			1	Substitution - Missense(1)	p.R342W(1)	prostate(1)	NS(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	11	GRCh37	CM970412	CYP21A2	M		c.(1024-1026)Cgg>Tgg		cytochrome P450, family 21, subfamily A, polypeptide 2							30	26	27					6																	32008267		2197	4288	6485	SO:0001583	missense	1589				glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|steroid 21-monooxygenase activity|steroid binding	g.chr6:32008267C>T	X58906	CCDS4735.1, CCDS47406.1	6p21.3	2014-09-17	2003-01-14		ENSG00000231852	ENSG00000231852	1.14.99.10	"Cytochrome P450s"	2600	protein-coding gene	gene with protein product	"Steroid 21-monooxygenase"	613815	"cytochrome P450, subfamily XXIA (steroid 21-hydroxylase, congenital adrenal hyperplasia), polypeptide 2"	CYP21, CYP21B			Standard	NM_000500		Approved	P450c21B, CA21H, CPS1, CAH1	uc021yvd.1	P08686	OTTHUMG00000031069	ENST00000418967.2:c.1024C>T	6.37:g.32008267C>T	ENSP00000408860:p.Arg342Trp					CYP21A2_ENST00000435122.2_Missense_Mutation_p.R312W	p.R342W	NM_000500.7	NP_000491.4	P08686	CP21A_HUMAN			8	1182	+			341			Steroid-binding (By similarity).		A2BHY6|P04033|Q01204|Q08AG8|Q16749|Q16806|Q5ST44|Q96NU8	Missense_Mutation	SNP	ENST00000418967.2	37	c.1024C>T	CCDS4735.1	.	.	.	.	.	.	.	.	.	.	c	17.09	3.300794	0.60195	.	.	ENSG00000231852	ENST00000418967;ENST00000435122	T;T	0.80214	-1.35;-1.35	5.27	4.41	0.53225	.	0.321580	0.22724	N	0.056413	D	0.86222	0.5881	M	0.88775	2.98	0.29860	N	0.827701	D;D	0.89917	1.0;1.0	D;D	0.70716	0.959;0.97	T	0.82619	-0.0368	10	0.59425	D	0.04	.	9.9409	0.41580	0.0:0.9056:0.0:0.0944	.	312;342	Q5ST44;Q16874	.;.	W	342;312	ENSP00000408860:R342W;ENSP00000415043:R312W	ENSP00000408860:R342W	R	+	1	2	CYP21A2	32116246	0.646000	0.27295	0.768000	0.31515	0.474000	0.32979	2.142000	0.42177	1.367000	0.46095	0.651000	0.88453	CGG		0.667	CYP21A2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268768.2	NM_000500		7	36	0	0	0	0.27861	0	7	36					T	32008267	C	T	32008267	3	4	69	1	0	0	0	0	1	0	0	0	4153	527	19	1	2575	1	CYP21A2	6	32008267	Missense_Mutation	SNP	C	TCGA-EJ-5522-01A-01D-1576-08		32008267	139106800	17	3592											
ASCC3	10973	broad.mit.edu	37	chr6	101166013	101166013	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tactggtcgaaaacggccatCaaagaagaaaagtccaatgt	17	7	9	8	2	1	2	1	0	0	2	3	3	2	2	2	2	2	0	2	2	8	1			TCGA-EJ-5522-01A-01D-1576-08	TCGA-EJ-5522-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a89182-c17c-42a8-af9e-4fcc861e336c	9b4b6723-8e0e-4e98-a726-c023723e08b1	g.chr6:101166013C>A	ENST00000369162.2	-	12	2361	c.2017G>T	c.(2017-2019)Gat>Tat	p.D673Y	ASCC3_ENST00000522650.1_Missense_Mutation_p.D673Y	NM_006828.2	NP_006819.2	Q8N3C0	ASCC3_HUMAN	activating signal cointegrator 1 complex subunit 3	673					cell proliferation (GO:0008283)|DNA dealkylation involved in DNA repair (GO:0006307)|DNA duplex unwinding (GO:0032508)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular (GO:0005622)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent 3'-5' DNA helicase activity (GO:0043140)|poly(A) RNA binding (GO:0044822)	p.D673Y(1)		breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(20)|liver(1)|lung(36)|ovary(6)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	92		all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199)		AAACGGCCATCAAAGAAGAAA	0.343																																						ENST00000369162.2																			1	Substitution - Missense(1)	p.D673Y(1)	prostate(1)	breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(20)|liver(1)|lung(36)|ovary(6)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	92						c.(2017-2019)Gat>Tat		activating signal cointegrator 1 complex subunit 3							98	95	96					6																	101166013		2203	4300	6503	SO:0001583	missense	10973				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton	ATP binding|ATP-dependent helicase activity|nucleic acid binding	g.chr6:101166013C>A	AJ223948	CCDS5046.1, CCDS5047.1, CCDS75497.1	6q16	2008-02-05		2004-07-28	ENSG00000112249	ENSG00000112249			18697	protein-coding gene	gene with protein product	"RNA helicase family"	614217	"helicase, ATP binding 1"	HELIC1		10218103	Standard	NM_006828		Approved	RNAH, ASC1p200, dJ121G13.4, dJ467N11.1	uc003pqk.3	Q8N3C0	OTTHUMG00000015279	ENST00000369162.2:c.2017G>T	6.37:g.101166013C>A	ENSP00000358159:p.Asp673Tyr					ASCC3_ENST00000522650.1_Missense_Mutation_p.D673Y	p.D673Y	NM_006828.2	NP_006819.2	Q8N3C0	HELC1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199)	12	2361	-		all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13)	673					E7EW23|O43738|Q4G1A0|Q5VTN2|Q9H1I9|Q9H5A2|Q9NTR0	Missense_Mutation	SNP	ENST00000369162.2	37	c.2017G>T	CCDS5046.1	.	.	.	.	.	.	.	.	.	.	C	28.7	4.943894	0.92593	.	.	ENSG00000112249	ENST00000369162;ENST00000522650	D;T	0.91792	-2.91;-0.02	5.51	5.51	0.81932	DEAD-like helicase (1);ATPase, AAA+ type, core (1);	0.055071	0.64402	D	0.000001	D	0.97545	0.9196	H	0.96239	3.79	0.80722	D	1	P;D	0.89917	0.954;1.0	P;D	0.83275	0.702;0.996	D	0.98474	1.0602	10	0.87932	D	0	.	19.4031	0.94639	0.0:1.0:0.0:0.0	.	673;673	E7EW23;Q8N3C0	.;HELC1_HUMAN	Y	673	ENSP00000358159:D673Y;ENSP00000430769:D673Y	ENSP00000358159:D673Y	D	-	1	0	ASCC3	101272734	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.818000	0.86416	2.587000	0.87381	0.585000	0.79938	GAT		0.343	ASCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041632.2	NM_006828		44	117	1	0	6.21074e-16	0.859065	7.79646e-16	44	117					A	101166013	C	A	101166013	3	1	69	1	0	0	0	0	1	0	0	0	1033	826	29	5	4715	5	ASCC3	6	101166013	Missense_Mutation	SNP	C	TCGA-EJ-5522-01A-01D-1576-08	69157746	101166013	69949054	18	3593											
DLGAP2	9228	broad.mit.edu	37	chr8	1497834	1497834	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccaagcccgccctgaggccGtgccactacctccaggtaag	8	5	11	17	2	0	1	0	1	0	0	1	1	1	1	7	2	3	1	7	2	3	2	rs373198112		TCGA-EJ-5522-01A-01D-1576-08	TCGA-EJ-5522-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a89182-c17c-42a8-af9e-4fcc861e336c	9b4b6723-8e0e-4e98-a726-c023723e08b1	g.chr8:1497834G>A	ENST00000421627.2	+	2	1109	c.975G>A	c.(973-975)ccG>ccA	p.P325P		NM_004745.3	NP_004736.2	Q9P1A6	DLGP2_HUMAN	discs, large (Drosophila) homolog-associated protein 2	404					neuron-neuron synaptic transmission (GO:0007270)	cell junction (GO:0030054)|neurofilament (GO:0005883)|postsynaptic membrane (GO:0045211)		p.P369P(1)|p.P347P(1)		breast(1)|endometrium(6)|lung(31)|prostate(3)	41		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)		CCCTGAGGCCGTGCCACTACC	0.597																																						ENST00000421627.2																			2	Substitution - coding silent(2)	p.P369P(1)|p.P347P(1)	prostate(2)	breast(1)|endometrium(6)|lung(31)|prostate(3)	41						c.(973-975)ccG>ccA		discs, large (Drosophila) homolog-associated protein 2		G		3,4017		0,3,2007	5	6	6		975	-10.8	0.5	8		6	0,8198		0,0,4099	no	coding-synonymous	DLGAP2	NM_004745.3		0,3,6106	AA,AG,GG		0.0,0.0746,0.0246		325/976	1497834	3,12215	2010	4099	6109	SO:0001819	synonymous_variant	9228				neuron-neuron synaptic transmission	cell junction|neurofilament|postsynaptic density|postsynaptic membrane	protein binding	g.chr8:1497834G>A	AB000275	CCDS47760.1, CCDS75689.1	8p23	2007-12-06	2001-11-28		ENSG00000198010	ENSG00000198010			2906	protein-coding gene	gene with protein product		605438	"discs, large (Drosophila) homolog-associated protein 2"			9286858, 10854099	Standard	NM_004745		Approved	DAP-2	uc003wpl.4	Q9P1A6	OTTHUMG00000163599	ENST00000421627.2:c.975G>A	8.37:g.1497834G>A							p.P325P	NM_004745.3	NP_004736.2	Q9P1A6	DLGP2_HUMAN		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)	2	1109	+		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)	404					A1QCF8|A1QCF9|A5D8Y2|O14488|O14664|Q9P1A7	Silent	SNP	ENST00000421627.2	37	c.975G>A	CCDS47760.1	.	.	.	.	.	.	.	.	.	.	G	3.687	-0.064249	0.07273	7.46E-4	0.0	ENSG00000198010	ENST00000520901	.	.	.	5.42	-10.8	0.00216	.	.	.	.	.	T	0.46483	0.1395	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.59112	-0.7515	4	.	.	.	-9.685	9.3452	0.38104	0.2741:0.3366:0.3893:0.0	.	.	.	.	H	342	.	.	R	+	2	0	DLGAP2	1485241	0.007000	0.16637	0.467000	0.27180	0.456000	0.32438	-0.609000	0.05635	-2.515000	0.00501	-0.878000	0.02970	CGT		0.597	DLGAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374478.1	NM_004745		4	4	0	0	0	0.150653	0	4	4					A	1497834	G	A	1497834	2	1	69	1	0	0	0	0	0	0	0	1	4560	1132	40	1		1	DLGAP2	8	1497834	Silent	SNP	G	TCGA-EJ-5522-01A-01D-1576-08		1497834	144866188	19	3594											
CSMD1	64478	broad.mit.edu	37	chr8	2910129	2910129	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgaactcgttcccggtaaaTgaaccgtttcctggggattc	8	12	11	10	3	0	2	0	2	0	0	4	3	2	3	3	3	2	3	3	3	4	4			TCGA-EJ-5522-01A-01D-1576-08	TCGA-EJ-5522-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a89182-c17c-42a8-af9e-4fcc861e336c	9b4b6723-8e0e-4e98-a726-c023723e08b1	g.chr8:2910129T>A	ENST00000520002.1	-	51	8073	c.7518A>T	c.(7516-7518)tcA>tcT	p.S2506S	CSMD1_ENST00000537824.1_Silent_p.S2505S|CSMD1_ENST00000602723.1_Silent_p.S2506S|CSMD1_ENST00000400186.3_Silent_p.S2506S|CSMD1_ENST00000542608.1_Silent_p.S2505S|CSMD1_ENST00000602557.1_Silent_p.S2506S			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	2506	Sushi 15. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)		p.S2505S(1)|p.S2234S(1)		breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		TCCCGGTAAATGAACCGTTTC	0.428																																						ENST00000520002.1																			2	Substitution - coding silent(2)	p.S2505S(1)|p.S2234S(1)	prostate(2)	breast(20)|large_intestine(5)	25						c.(7516-7518)tcA>tcT		CUB and Sushi multiple domains 1							51	48	49					8																	2910129		1860	4108	5968	SO:0001819	synonymous_variant	64478					integral to membrane		g.chr8:2910129T>A			8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	14026	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 24"	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.7518A>T	8.37:g.2910129T>A						CSMD1_ENST00000602723.1_Silent_p.S2506S|CSMD1_ENST00000542608.1_Silent_p.S2505S|CSMD1_ENST00000537824.1_Silent_p.S2505S|CSMD1_ENST00000400186.3_Silent_p.S2506S|CSMD1_ENST00000602557.1_Silent_p.S2506S	p.S2506S			Q96PZ7	CSMD1_HUMAN		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)	51	8073	-		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)	2506			Sushi 15.		Q0H0J5|Q96QU9|Q96RM4	Silent	SNP	ENST00000520002.1	37	c.7518A>T		.	.	.	.	.	.	.	.	.	.	T	0.023	-1.406063	0.01155	.	.	ENSG00000183117	ENST00000335551	.	.	.	5.13	-10.3	0.00346	.	.	.	.	.	T	0.46698	0.1406	.	.	.	0.51233	D	0.999916	.	.	.	.	.	.	T	0.71820	-0.4477	4	.	.	.	.	7.8319	0.29347	0.1248:0.1453:0.5399:0.19	.	.	.	.	F	1923	.	.	I	-	1	0	CSMD1	2897536	0.009000	0.17119	0.000000	0.03702	0.012000	0.07955	-1.947000	0.01534	-6.556000	0.00003	-3.755000	0.00021	ATT		0.428	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000374500.2	NM_033225		7	27	0	0	0	0.248553	0	7	27					A	2910129	T	A	2910129	2	1	69	1	0	0	0	0	0	0	0	1	3944	1451	51	5		5	CSMD1	8	2910129	Silent	SNP	T	TCGA-EJ-5522-01A-01D-1576-08	1412295	2910129	143453893	20	3595											
RBPMS	11030	broad.mit.edu	37	chr8	30407063	30407063	+	Intron	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aagccaccccttgagcgctcCgtctcctgatagtgccagcc	7	8	9	17	2	1	2	0	2	1	0	3	2	2	2	7	0	4	1	7	0	2	2	rs376566256		TCGA-EJ-5522-01A-01D-1576-08	TCGA-EJ-5522-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a89182-c17c-42a8-af9e-4fcc861e336c	9b4b6723-8e0e-4e98-a726-c023723e08b1	g.chr8:30407063C>A	ENST00000320203.4	+	6	1110				RBPMS_ENST00000397323.4_Intron|RBPMS_ENST00000287771.5_Missense_Mutation_p.P192Q|RBPMS_ENST00000538486.1_Intron	NM_006867.2	NP_006858.1	Q93062	RBPMS_HUMAN	RNA binding protein with multiple splicing						positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of SMAD protein import into nucleus (GO:0060391)|regulation of transcription, DNA-templated (GO:0006355)|RNA processing (GO:0006396)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)|transcription coactivator activity (GO:0003713)	p.P192Q(1)		autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	13				KIRC - Kidney renal clear cell carcinoma(542;0.144)|Kidney(114;0.172)		TTGAGCGCTCCGTCTCCTGAT	0.542																																						ENST00000287771.5																			1	Substitution - Missense(1)	p.P192Q(1)	prostate(1)	autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	13						c.(574-576)cCg>cAg		RNA binding protein with multiple splicing							137	124	128					8																	30407063		2203	4300	6503	SO:0001627	intron_variant	11030				positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|regulation of transcription, DNA-dependent|RNA processing|transcription, DNA-dependent	cytoplasm|nucleus	nucleotide binding|poly(A) RNA binding|protein binding|transcription coactivator activity	g.chr8:30407063C>A	D84110	CCDS6077.1, CCDS34875.1, CCDS34876.1	8p12	2013-06-07			ENSG00000157110	ENSG00000157110		"RNA binding motif (RRM) containing"	19097	protein-coding gene	gene with protein product		601558				8855282	Standard	NM_001008710		Approved	HERMES	uc003xib.3	Q93062	OTTHUMG00000163845	ENST00000320203.4:c.528+4922C>A	8.37:g.30407063C>A						RBPMS_ENST00000397323.4_Intron|RBPMS_ENST00000320203.4_Intron|RBPMS_ENST00000538486.1_Intron	p.P192Q	NM_001008711.1	NP_001008711.1	Q93062	RBPMS_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.144)|Kidney(114;0.172)	7	1141	+			0					D3DSU9|Q92516|Q92517|Q92518|Q96J26	Missense_Mutation	SNP	ENST00000320203.4	37	c.575C>A	CCDS6077.1	.	.	.	.	.	.	.	.	.	.	C	7.899	0.734077	0.15574	.	.	ENSG00000157110	ENST00000287771	T	0.29142	1.58	2.07	-3.28	0.05033	.	.	.	.	.	T	0.19046	0.0457	.	.	.	0.09310	N	1	B	0.18863	0.031	B	0.15484	0.013	T	0.19712	-1.0297	8	0.48119	T	0.1	.	7.4483	0.27223	0.0:0.2566:0.0:0.7434	.	192	Q93062-2	.	Q	192	ENSP00000287771:P192Q	ENSP00000287771:P192Q	P	+	2	0	RBPMS	30526605	0.000000	0.05858	0.000000	0.03702	0.020000	0.10135	-1.510000	0.02262	-0.965000	0.03591	-0.495000	0.04643	CCG		0.542	RBPMS-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000376357.2			24	101	1	0	1.5548e-18	0.693898	1.9942e-18	24	101					A	30407063	C	A	30407063	1	1	69	0	1	0	0	0	0	0	0	0	13163	652	23	5		5	RBPMS	8	30407063	Intron	SNP	C	TCGA-EJ-5522-01A-01D-1576-08	27496934	30407063	115956959	21	3596											
ANK1	286	broad.mit.edu	37	chr8	41572581	41572581	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ttggccgccacgtgcagaggGgtaaatcctttctgaggaga	9	9	14	9	2	1	3	0	1	1	2	2	4	2	3	3	4	1	2	3	4	2	3			TCGA-EJ-5522-01A-01D-1576-08	TCGA-EJ-5522-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a89182-c17c-42a8-af9e-4fcc861e336c	9b4b6723-8e0e-4e98-a726-c023723e08b1	g.chr8:41572581G>A	ENST00000347528.4	-	15	1697	c.1614C>T	c.(1612-1614)acC>acT	p.T538T	ANK1_ENST00000289734.7_Silent_p.T538T|ANK1_ENST00000352337.4_Silent_p.T538T|ANK1_ENST00000265709.8_Silent_p.T571T|ANK1_ENST00000379758.2_Silent_p.T538T|ANK1_ENST00000396945.1_Silent_p.T538T|ANK1_ENST00000396942.1_Silent_p.T538T	NM_020475.2|NM_020476.2|NM_020477.2	NP_065208.2|NP_065209.2|NP_065210.2	P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	538	89 kDa domain.				axon guidance (GO:0007411)|cytoskeleton organization (GO:0007010)|ER to Golgi vesicle-mediated transport (GO:0006888)|erythrocyte development (GO:0048821)|exocytosis (GO:0006887)|maintenance of epithelial cell apical/basal polarity (GO:0045199)|monovalent inorganic cation transport (GO:0015672)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of organelle organization (GO:0010638)|protein targeting to plasma membrane (GO:0072661)|signal transduction (GO:0007165)	axolemma (GO:0030673)|basolateral plasma membrane (GO:0016323)|cortical cytoskeleton (GO:0030863)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|M band (GO:0031430)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|cytoskeletal adaptor activity (GO:0008093)|enzyme binding (GO:0019899)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)	p.T538T(1)		breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			CGTGCAGAGGGGTAAATCCTT	0.627																																						ENST00000396942.1																			1	Substitution - coding silent(1)	p.T538T(1)	prostate(1)	breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122						c.(1612-1614)acC>acT		ankyrin 1, erythrocytic							60	62	61					8																	41572581		2203	4300	6503	SO:0001819	synonymous_variant	286				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton	g.chr8:41572581G>A	M28880	CCDS6119.1, CCDS6121.1, CCDS6122.1, CCDS47849.1, CCDS55227.1	8p11.21	2013-01-10			ENSG00000029534	ENSG00000029534		"Ankyrin repeat domain containing"	492	protein-coding gene	gene with protein product		612641		ANK		1689849	Standard	NM_001142445		Approved	SPH1	uc003xom.3	P16157	OTTHUMG00000150281	ENST00000347528.4:c.1614C>T	8.37:g.41572581G>A						ANK1_ENST00000265709.8_Silent_p.T571T|ANK1_ENST00000289734.7_Silent_p.T538T|ANK1_ENST00000347528.4_Silent_p.T538T|ANK1_ENST00000396945.1_Silent_p.T538T|ANK1_ENST00000379758.2_Silent_p.T538T|ANK1_ENST00000352337.4_Silent_p.T538T	p.T538T			P16157	ANK1_HUMAN	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)		15	1697	-	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	538			89 kDa domain.		A0PJN8|A6NJ23|E5RFL7|O43400|Q13768|Q53ER1|Q59FP2|Q8N604|Q99407	Silent	SNP	ENST00000347528.4	37	c.1614C>T	CCDS6119.1																																																																																				0.627	ANK1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317297.1	NM_020475		22	91	0	0	0	0.667858	0	22	91					A	41572581	G	A	41572581	2	1	69	1	0	0	0	0	0	0	0	1	620	1219	43	3		3	ANK1	8	41572581	Silent	SNP	G	TCGA-EJ-5522-01A-01D-1576-08	11165518	41572581	104791441	22	3597											
CELF2	10659	broad.mit.edu	37	chr10	11330491	11330491	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctctctaccacgagcagcGccctgggagccctcacgagt	7	7	10	17	3	3	0	1	0	2	0	4	3	3	1	3	1	4	1	3	1	1	1	rs557804153		TCGA-EJ-5522-01A-01D-1576-08	TCGA-EJ-5522-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a89182-c17c-42a8-af9e-4fcc861e336c	9b4b6723-8e0e-4e98-a726-c023723e08b1	g.chr10:11330491G>A	ENST00000379261.4	+	9	1023	c.931G>A	c.(931-933)Gcc>Acc	p.A311T	CELF2_ENST00000427450.1_Missense_Mutation_p.A287T|CELF2_ENST00000608830.1_Missense_Mutation_p.A287T|CELF2_ENST00000450189.1_Missense_Mutation_p.A318T|CELF2_ENST00000417956.2_Missense_Mutation_p.A287T|CELF2_ENST00000542579.1_Missense_Mutation_p.A318T|CELF2_ENST00000354440.2_Missense_Mutation_p.A287T|CELF2_ENST00000399850.3_Missense_Mutation_p.A287T|CELF2_ENST00000315874.4_Missense_Mutation_p.A287T|CELF2_ENST00000609692.1_Missense_Mutation_p.A287T|CELF2_ENST00000354897.3_Missense_Mutation_p.A287T|CELF2_ENST00000537122.1_Missense_Mutation_p.A200T|CELF2_ENST00000416382.2_Missense_Mutation_p.A311T	NM_001025077.2	NP_001020248.1	O95319	CELF2_HUMAN	CUGBP, Elav-like family member 2	311	Ala-rich.				mRNA processing (GO:0006397)|regulation of heart contraction (GO:0008016)|RNA processing (GO:0006396)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.A306T(1)		breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	16						CACGAGCAGCGCCCTGGGAGC	0.637													G|||	1	0.000199681	8e-04	0	5008	,	,		16713	0		0	False		,,,				2504	0					ENST00000379261.4																			1	Substitution - Missense(1)	p.A306T(1)	prostate(1)	breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	16						c.(931-933)Gcc>Acc		CUGBP, Elav-like family member 2							31	35	34					10																	11330491		2054	4190	6244	SO:0001583	missense	10659				mRNA processing|regulation of heart contraction	cytoplasm|nucleus	nucleotide binding|protein binding|RNA binding	g.chr10:11330491G>A	U69546	CCDS41488.1, CCDS44354.1, CCDS44355.1, CCDS44356.1	10p13	2013-02-12	2010-02-19	2010-02-19	ENSG00000048740	ENSG00000048740		"RNA binding motif (RRM) containing"	2550	protein-coding gene	gene with protein product		602538	"CUG triplet repeat, RNA-binding protein 2", "CUG triplet repeat, RNA binding protein 2"	CUGBP2		7869393, 9887331	Standard	NM_006561		Approved	Etr-3, NAPOR-2, BRUNOL3	uc001ikl.4	O95319	OTTHUMG00000017668	ENST00000379261.4:c.931G>A	10.37:g.11330491G>A	ENSP00000368563:p.Ala311Thr					CELF2_ENST00000427450.1_Missense_Mutation_p.A287T|CELF2_ENST00000542579.1_Missense_Mutation_p.A318T|CELF2_ENST00000399850.3_Missense_Mutation_p.A287T|CELF2_ENST00000417956.2_Missense_Mutation_p.A287T|CELF2_ENST00000315874.3_Missense_Mutation_p.A287T|CELF2_ENST00000354440.2_Missense_Mutation_p.A287T|CELF2_ENST00000354897.3_Missense_Mutation_p.A287T|CELF2_ENST00000416382.2_Missense_Mutation_p.A311T|CELF2_ENST00000450189.1_Missense_Mutation_p.A318T|CELF2_ENST00000537122.1_Missense_Mutation_p.A200T	p.A311T	NM_001025077.2	NP_001020248.1	O95319	CELF2_HUMAN			9	1023	+			311			Ala-rich.		B7ZAN9|Q7KYU4|Q8N499|Q92950|Q96NW9|Q96RQ5|Q96RQ6|Q9UL67	Missense_Mutation	SNP	ENST00000379261.4	37	c.931G>A	CCDS44354.1	.	.	.	.	.	.	.	.	.	.	G	16.45	3.126636	0.56721	.	.	ENSG00000048740	ENST00000379261;ENST00000416382;ENST00000450189;ENST00000542579;ENST00000399850;ENST00000417956;ENST00000315874;ENST00000354440;ENST00000354897;ENST00000427450;ENST00000537122;ENST00000538632	T;T;T;T;T;T;T;T;T;T	0.45668	0.89;0.89;0.89;0.89;0.89;0.89;0.89;0.89;0.89;0.89	4.86	4.86	0.63082	.	0.123147	0.56097	D	0.000040	T	0.32224	0.0822	L	0.29908	0.895	0.58432	D	0.999996	P;B;D;B;B;P;P	0.56287	0.913;0.443;0.975;0.342;0.027;0.884;0.913	B;B;B;B;B;B;B	0.39904	0.163;0.035;0.313;0.024;0.015;0.115;0.163	T	0.09037	-1.0693	10	0.27785	T	0.31	-11.9687	18.0169	0.89243	0.0:0.0:1.0:0.0	.	295;311;83;306;318;306;311	B4DDE7;B4DS31;B4DMB0;B2RA86;E9PC62;O95319-3;O95319	.;.;.;.;.;.;CELF2_HUMAN	T	311;311;318;318;287;287;287;287;287;287;200;117	ENSP00000368563:A311T;ENSP00000406451:A311T;ENSP00000389951:A318T;ENSP00000443926:A318T;ENSP00000382743:A287T;ENSP00000404834:A287T;ENSP00000315328:A287T;ENSP00000346426:A287T;ENSP00000388530:A287T;ENSP00000438884:A200T	ENSP00000315328:A287T	A	+	1	0	CELF2	11370497	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.175000	0.65021	2.267000	0.75376	0.460000	0.39030	GCC		0.637	CELF2-201	KNOWN	basic|CCDS	protein_coding	protein_coding				10	45	0	0	0	0.457914	0	10	45					A	11330491	G	A	11330491	3	1	69	1	0	0	0	0	1	0	0	0	3216	1087	38	1	1043	1	CELF2	10	11330491	Missense_Mutation	SNP	G	TCGA-EJ-5522-01A-01D-1576-08		11330491	124204256	23	3598											
GHITM	27069	broad.mit.edu	37	chr10	85904774	85904774	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gatgagaggctcttgggtggTaagtcagctgtttttgtttt	6	17	14	4	0	2	1	1	1	1	1	2	3	2	1	0	3	1	5	0	3	1	6			TCGA-EJ-5522-01A-01D-1576-08	TCGA-EJ-5522-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a89182-c17c-42a8-af9e-4fcc861e336c	9b4b6723-8e0e-4e98-a726-c023723e08b1	g.chr10:85904774T>C	ENST00000372134.3	+	5	676		c.e5+2			NM_014394.2	NP_055209.2	Q9H3K2	GHITM_HUMAN	growth hormone inducible transmembrane protein						apoptotic process (GO:0006915)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)		p.?(1)		breast(1)|endometrium(1)|large_intestine(3)|lung(3)|prostate(2)	10						TCTTGGGTGGTAAGTCAGCTG	0.368																																						ENST00000372134.3																			1	Unknown(1)	p.?(1)	prostate(1)	breast(1)|endometrium(1)|large_intestine(3)|lung(3)|prostate(2)	10						c.e5+2		growth hormone inducible transmembrane protein							169	150	156					10																	85904774		1866	4097	5963	SO:0001630	splice_region_variant	27069				apoptosis	integral to membrane|mitochondrial inner membrane		g.chr10:85904774T>C	AB009685	CCDS41542.1	10q23.1	2008-02-01			ENSG00000165678	ENSG00000165678			17281	protein-coding gene	gene with protein product	"transmembrane BAX inhibitor motif containing 5"					8619474, 9110174	Standard	NM_014394		Approved	HSPC282, PTD010, DERP2, My021, TMBIM5	uc001kcs.1	Q9H3K2	OTTHUMG00000018637	ENST00000372134.3:c.483+2T>C	10.37:g.85904774T>C								NM_014394.2	NP_055209.2	Q9H3K2	GHITM_HUMAN			5	676	+								A8K9Z9|D3DWE0|O95894|Q5VT95|Q9H0P2	Splice_Site	SNP	ENST00000372134.3	37		CCDS41542.1	.	.	.	.	.	.	.	.	.	.	T	23.2	4.383853	0.82792	.	.	ENSG00000165678	ENST00000372134;ENST00000538477;ENST00000436406;ENST00000339736	.	.	.	5.78	5.78	0.91487	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.3789	0.74637	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	GHITM	85894754	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.586000	0.82596	2.333000	0.79357	0.533000	0.62120	.		0.368	GHITM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049125.1	NM_014394	Intron	3	176	0	0	0	0.115264	0	3	176					C	85904774	T	C	85904774	5	2	69	1	0	0	0	0	0	0	1	0	6370	1652	57	4	499	4	GHITM	10	85904774	Splice_Site	SNP	T	TCGA-EJ-5522-01A-01D-1576-08	74574283	85904774	49629973	24	3599											
OR5L2	26338	broad.mit.edu	37	chr11	55594892	55594892	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tactttttcctcagccacttGtcctttgtagatttctgcta	6	19	5	11	0	2	1	1	0	1	1	4	1	4	1	3	0	3	2	3	0	3	8	rs548957440	byFrequency	TCGA-EJ-5522-01A-01D-1576-08	TCGA-EJ-5522-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a89182-c17c-42a8-af9e-4fcc861e336c	9b4b6723-8e0e-4e98-a726-c023723e08b1	g.chr11:55594892G>T	ENST00000378397.1	+	1	198	c.198G>T	c.(196-198)ttG>ttT	p.L66F		NM_001004739.1	NP_001004739.1	Q8NGL0	OR5L2_HUMAN	olfactory receptor, family 5, subfamily L, member 2	66						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L66F(1)		breast(2)|kidney(1)|large_intestine(1)|lung(42)|ovary(1)|prostate(3)|skin(1)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	59		all_epithelial(135;0.208)				TCAGCCACTTGTCCTTTGTAG	0.473										HNSCC(27;0.073)																												ENST00000378397.1																			1	Substitution - Missense(1)	p.L66F(1)	prostate(1)	breast(2)|kidney(1)|large_intestine(1)|lung(42)|ovary(1)|prostate(3)|skin(1)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	59						c.(196-198)ttG>ttT		olfactory receptor, family 5, subfamily L, member 2							230	213	219					11																	55594892		2200	4296	6496	SO:0001583	missense	26338				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55594892G>T	AB065782	CCDS31511.1	11q11	2012-08-09			ENSG00000205030	ENSG00000205030		"GPCR / Class A : Olfactory receptors"	8351	protein-coding gene	gene with protein product						1370859	Standard	NM_001004739		Approved	HTPCRX16, HSHTPCRX16	uc001nhy.1	Q8NGL0	OTTHUMG00000166812	ENST00000378397.1:c.198G>T	11.37:g.55594892G>T	ENSP00000367650:p.Leu66Phe	HNSCC(27;0.073)					p.L66F	NM_001004739.1	NP_001004739.1	Q8NGL0	OR5L2_HUMAN			1	198	+		all_epithelial(135;0.208)	66					Q6IF66|Q96RB2	Missense_Mutation	SNP	ENST00000378397.1	37	c.198G>T	CCDS31511.1	.	.	.	.	.	.	.	.	.	.	.	17.16	3.317754	0.60524	.	.	ENSG00000205030	ENST00000378397	T	0.00512	6.89	5.21	2.09	0.27110	GPCR, rhodopsin-like superfamily (1);	0.000000	0.39020	N	0.001498	T	0.01287	0.0042	M	0.77616	2.38	0.36146	D	0.847102	D	0.71674	0.998	D	0.67231	0.95	T	0.58399	-0.7643	10	0.87932	D	0	-31.318	7.0273	0.24946	0.1622:0.0:0.7019:0.1359	.	66	Q8NGL0	OR5L2_HUMAN	F	66	ENSP00000367650:L66F	ENSP00000367650:L66F	L	+	3	2	OR5L2	55351468	0.000000	0.05858	1.000000	0.80357	0.958000	0.62258	-0.241000	0.08940	0.232000	0.21100	-0.411000	0.06167	TTG		0.473	OR5L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391516.1	NM_001004739		6	486	1	0	3.59834e-05	0.217242	4.24604e-05	6	486					T	55594892	G	T	55594892	3	4	69	1	0	0	0	0	1	0	0	0	11171	1368	48	5	200	5	OR5L2	11	55594892	Missense_Mutation	SNP	G	TCGA-EJ-5522-01A-01D-1576-08		55594892	79411624	25	3600											
OR8J1	219477	broad.mit.edu	37	chr11	56128312	56128312	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgatacttacttaccagaaaCagttgtctttatatctgcag	12	15	6	8	0	2	2	0	1	2	1	2	2	2	2	1	0	5	2	1	0	6	7			TCGA-EJ-5522-01A-01D-1576-08	TCGA-EJ-5522-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a89182-c17c-42a8-af9e-4fcc861e336c	9b4b6723-8e0e-4e98-a726-c023723e08b1	g.chr11:56128312C>T	ENST00000303039.3	+	1	622	c.590C>T	c.(589-591)aCa>aTa	p.T197I		NM_001005205.2	NP_001005205.2	Q8NGP2	OR8J1_HUMAN	olfactory receptor, family 8, subfamily J, member 1	197						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.T197I(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	47	Esophageal squamous(21;0.00448)					TTACCAGAAACAGTTGTCTTT	0.294																																						ENST00000303039.3																			1	Substitution - Missense(1)	p.T197I(1)	prostate(1)	breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	47						c.(589-591)aCa>aTa		olfactory receptor, family 8, subfamily J, member 1							162	151	154					11																	56128312		2201	4296	6497	SO:0001583	missense	219477				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56128312C>T	AB065748	CCDS31529.1	11q11	2012-08-09			ENSG00000172487	ENSG00000172487		"GPCR / Class A : Olfactory receptors"	14855	protein-coding gene	gene with protein product							Standard	NM_001005205		Approved		uc010rjh.2	Q8NGP2	OTTHUMG00000166859	ENST00000303039.3:c.590C>T	11.37:g.56128312C>T	ENSP00000304060:p.Thr197Ile						p.T197I	NM_001005205.2	NP_001005205.2	Q8NGP2	OR8J1_HUMAN			1	622	+	Esophageal squamous(21;0.00448)		197					B2RNQ6|B9EH63|Q6IFC2|Q96RC3	Missense_Mutation	SNP	ENST00000303039.3	37	c.590C>T	CCDS31529.1	.	.	.	.	.	.	.	.	.	.	C	2.579	-0.297953	0.05532	.	.	ENSG00000172487	ENST00000303039	T	0.00039	8.85	3.91	3.91	0.45181	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000003	T	0.00073	0.0002	N	0.02960	-0.455	0.09310	N	1	B	0.15141	0.012	B	0.27887	0.084	T	0.10520	-1.0626	10	0.17369	T	0.5	.	7.5832	0.27976	0.0:0.8824:0.0:0.1176	.	197	Q8NGP2	OR8J1_HUMAN	I	197	ENSP00000304060:T197I	ENSP00000304060:T197I	T	+	2	0	OR8J1	55884888	0.000000	0.05858	0.702000	0.30337	0.135000	0.20990	0.645000	0.24782	2.185000	0.69588	0.549000	0.68633	ACA		0.294	OR8J1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391606.2	NM_001005205		50	140	0	0	0	0.870114	0	50	140					T	56128312	C	T	56128312	3	4	69	1	0	0	0	0	1	0	0	0	11241	478	17	3	592	3	OR8J1	11	56128312	Missense_Mutation	SNP	C	TCGA-EJ-5522-01A-01D-1576-08	533420	56128312	78878204	26	3601											
CCDC88B	283234	broad.mit.edu	37	chr11	64109490	64109490	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tggctgaactgctgctggagCgagaacccctctgcttgagg	7	9	14	11	1	1	3	0	2	1	1	1	5	1	4	2	3	6	4	2	3	2	1			TCGA-EJ-5522-01A-01D-1576-08	TCGA-EJ-5522-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a89182-c17c-42a8-af9e-4fcc861e336c	9b4b6723-8e0e-4e98-a726-c023723e08b1	g.chr11:64109490C>A	ENST00000356786.5	+	8	744	c.700C>A	c.(700-702)Cga>Aga	p.R234R	CCDC88B_ENST00000301897.4_5'Flank|CCDC88B_ENST00000463837.1_3'UTR	NM_032251.5	NP_115627.6	A6NC98	CC88B_HUMAN	coiled-coil domain containing 88B	234						membrane (GO:0016020)		p.R234R(1)		endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						GCTGCTGGAGCGAGAACCCCT	0.632																																						ENST00000356786.5																			1	Substitution - coding silent(1)	p.R234R(1)	prostate(1)	endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(700-702)Cga>Aga		coiled-coil domain containing 88B							32	31	31					11																	64109490		2201	4297	6498	SO:0001819	synonymous_variant	283234				microtubule cytoskeleton organization	cytoplasm	microtubule binding	g.chr11:64109490C>A	AK090436	CCDS8072.2	11q13.1	2013-03-13	2007-05-31	2007-05-31	ENSG00000168071	ENSG00000168071			26757	protein-coding gene	gene with protein product	"brain leucine zipper protein", "GRP78-interacting protein induced by ER stress"	611205	"coiled-coil domain containing 88"	CCDC88		15882442, 21289099	Standard	NM_032251		Approved	FLJ37970, BRLZ, HkRP3, FLJ00354, GIPIE	uc001nzy.3	A6NC98	OTTHUMG00000045419	ENST00000356786.5:c.700C>A	11.37:g.64109490C>A						CCDC88B_ENST00000463837.1_3'UTR	p.R234R	NM_032251.5	NP_115627.6	A6NC98	CC88B_HUMAN			8	744	+			234					A5D8Y5|B5MDM2|Q05BL2|Q6RUV3|Q8N1Q6|Q8NF44|Q9H0H1	Silent	SNP	ENST00000356786.5	37	c.700C>A	CCDS8072.2																																																																																				0.632	CCDC88B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000104845.1	NM_032251		3	46	1	0	0.004672	0.115264	0.00520091	3	46					A	64109490	C	A	64109490	2	1	69	1	0	0	0	0	0	0	0	1	2864	760	27	5		5	CCDC88B	11	64109490	Silent	SNP	C	TCGA-EJ-5522-01A-01D-1576-08	7981178	64109490	70897026	27	3602											
UTP20	27340	broad.mit.edu	37	chr12	101764854	101764854	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aggcaattttatcaagaaagCtgttggtcccagaaatcgat	14	11	9	7	1	1	2	1	0	0	2	3	3	2	2	1	2	1	3	1	2	5	3			TCGA-EJ-5522-01A-01D-1576-08	TCGA-EJ-5522-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a89182-c17c-42a8-af9e-4fcc861e336c	9b4b6723-8e0e-4e98-a726-c023723e08b1	g.chr12:101764854C>T	ENST00000261637.4	+	51	6880	c.6706C>T	c.(6706-6708)Ctg>Ttg	p.L2236L		NM_014503.2	NP_055318.2	O75691	UTP20_HUMAN	UTP20, small subunit (SSU) processome component, homolog (yeast)	2236					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000480)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000447)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000472)|negative regulation of cell proliferation (GO:0008285)|rRNA processing (GO:0006364)	90S preribosome (GO:0030686)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|preribosome, small subunit precursor (GO:0030688)|small-subunit processome (GO:0032040)	poly(A) RNA binding (GO:0044822)	p.L2236L(1)		NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						ATCAAGAAAGCTGTTGGTCCC	0.448																																						ENST00000261637.4																			1	Substitution - coding silent(1)	p.L2236L(1)	prostate(1)	NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						c.(6706-6708)Ctg>Ttg		UTP20, small subunit (SSU) processome component, homolog (yeast)							143	139	140					12																	101764854		2203	4300	6503	SO:0001819	synonymous_variant	27340				endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation	90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome	protein binding	g.chr12:101764854C>T	AJ006778	CCDS9081.1	12q23	2006-02-11				ENSG00000120800			17897	protein-coding gene	gene with protein product	"down regulated in metastasis"	612822				9673349, 15590835, 12837249	Standard	NM_014503		Approved	DRIM	uc001tia.1	O75691	OTTHUMG00000170270	ENST00000261637.4:c.6706C>T	12.37:g.101764854C>T							p.L2236L	NM_014503.2	NP_055318.2	O75691	UTP20_HUMAN			51	6880	+			2236					Q9H3H4	Silent	SNP	ENST00000261637.4	37	c.6706C>T	CCDS9081.1																																																																																				0.448	UTP20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408242.1	NM_014503		56	218	0	0	0	0.870114	0	56	218					T	101764854	C	T	101764854	2	4	69	1	0	0	0	0	0	0	0	1	17096	796	28	3		3	UTP20	12	101764854	Silent	SNP	C	TCGA-EJ-5522-01A-01D-1576-08		101764854	32087041	28	3603											
TNFAIP2	7127	broad.mit.edu	37	chr14	103599852	103599852	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tccagcacttctgcacccagCacgtaagccgctgcccacct	8	7	7	19	2	1	0	0	0	1	0	2	0	2	0	5	0	5	5	5	0	1	2			TCGA-EJ-5522-01A-01D-1576-08	TCGA-EJ-5522-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a89182-c17c-42a8-af9e-4fcc861e336c	9b4b6723-8e0e-4e98-a726-c023723e08b1	g.chr14:103599852C>A	ENST00000560869.1	+	10	2338	c.1699C>A	c.(1699-1701)Cac>Aac	p.H567N	TNFAIP2_ENST00000451723.2_Missense_Mutation_p.H236N|TNFAIP2_ENST00000538222.1_Missense_Mutation_p.H50N|TNFAIP2_ENST00000333007.1_Missense_Mutation_p.H567N			Q03169	TNAP2_HUMAN	tumor necrosis factor, alpha-induced protein 2	567					angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|exocytosis (GO:0006887)	exocyst (GO:0000145)|extracellular space (GO:0005615)		p.H567N(1)		NS(1)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	11		Melanoma(154;0.155)	Epithelial(46;0.191)			CTGCACCCAGCACGTAAGCCG	0.627																																						ENST00000560869.1																			1	Substitution - Missense(1)	p.H567N(1)	prostate(1)	NS(1)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	11						c.(1699-1701)Cac>Aac		tumor necrosis factor, alpha-induced protein 2							57	54	55					14																	103599852		2203	4300	6503	SO:0001583	missense	7127				angiogenesis|cell differentiation	extracellular space		g.chr14:103599852C>A		CCDS9979.1	14q32	2011-01-31				ENSG00000185215			11895	protein-coding gene	gene with protein product	"exocyst complex component 3-like 3"	603300				1374453	Standard	NM_006291		Approved	B94, EXOC3L3	uc001ymm.1	Q03169		ENST00000560869.1:c.1699C>A	14.37:g.103599852C>A	ENSP00000452634:p.His567Asn					TNFAIP2_ENST00000538222.1_Missense_Mutation_p.H50N|TNFAIP2_ENST00000451723.2_Missense_Mutation_p.H236N|TNFAIP2_ENST00000333007.1_Missense_Mutation_p.H567N	p.H567N			Q03169	TNAP2_HUMAN	Epithelial(46;0.191)		10	2338	+		Melanoma(154;0.155)	567					Q86VI0	Missense_Mutation	SNP	ENST00000560869.1	37	c.1699C>A	CCDS9979.1	.	.	.	.	.	.	.	.	.	.	C	0.007	-1.937720	0.00484	.	.	ENSG00000185215	ENST00000333007;ENST00000451723;ENST00000538222	T;T;T	0.06371	3.31;3.31;3.31	4.54	-1.27	0.09347	.	0.744073	0.13166	N	0.408682	T	0.01870	0.0059	N	0.01188	-0.97	0.09310	N	1	B;B	0.10296	0.003;0.0	B;B	0.06405	0.002;0.001	T	0.44832	-0.9302	10	0.02654	T	1	-8.3823	12.1787	0.54199	0.3379:0.6621:0.0:0.0	.	50;567	F6RNL3;Q03169	.;TNAP2_HUMAN	N	567;236;50	ENSP00000332326:H567N;ENSP00000393256:H236N;ENSP00000446171:H50N	ENSP00000332326:H567N	H	+	1	0	TNFAIP2	102669605	0.765000	0.28485	0.097000	0.21041	0.316000	0.28119	0.594000	0.24014	-0.542000	0.06249	-0.500000	0.04577	CAC		0.627	TNFAIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415674.1	NM_006291		3	50	1	0	0.115264	0.115264	0.125937	3	50					A	103599852	C	A	103599852	3	1	69	1	0	0	0	0	1	0	0	0	16270	710	25	5	1733	5	TNFAIP2	14	103599852	Missense_Mutation	SNP	C	TCGA-EJ-5522-01A-01D-1576-08		103599852	3749688	29	3604											
SECISBP2L	9728	broad.mit.edu	37	chr15	49329843	49329843	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agtaatcaggtagctgggaaTtggagttggttccacaccag	11	10	13	7	0	1	0	1	0	0	0	2	2	2	2	2	4	1	5	2	4	3	5			TCGA-EJ-5522-01A-01D-1576-08	TCGA-EJ-5522-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a89182-c17c-42a8-af9e-4fcc861e336c	9b4b6723-8e0e-4e98-a726-c023723e08b1	g.chr15:49329843T>A	ENST00000559471.1	-	2	411	c.148A>T	c.(148-150)Att>Ttt	p.I50F	SECISBP2L_ENST00000261847.3_Missense_Mutation_p.I50F	NM_001193489.1	NP_001180418.1	Q93073	SBP2L_HUMAN	SECIS binding protein 2-like	50							poly(A) RNA binding (GO:0044822)	p.I50F(1)|p.I50V(1)		breast(1)|endometrium(5)|kidney(8)|large_intestine(12)|lung(11)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	46						TAGCTGGGAATTGGAGTTGGT	0.398																																						ENST00000559471.1																			2	Substitution - Missense(2)	p.I50F(1)|p.I50V(1)	prostate(1)|pancreas(1)	breast(1)|endometrium(5)|kidney(8)|large_intestine(12)|lung(11)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	46						c.(148-150)Att>Ttt		SECIS binding protein 2-like							89	81	84					15																	49329843		2197	4295	6492	SO:0001583	missense	9728							g.chr15:49329843T>A	BC033001	CCDS32234.1, CCDS53942.1	15q21.1	2014-02-12				ENSG00000138593			28997	protein-coding gene	gene with protein product		615756					Standard	NM_001193489		Approved	KIAA0256	uc001zxe.2	Q93073		ENST00000559471.1:c.148A>T	15.37:g.49329843T>A	ENSP00000453854:p.Ile50Phe					SECISBP2L_ENST00000261847.3_Missense_Mutation_p.I50F	p.I50F	NM_001193489.1	NP_001180418.1	Q93073	SBP2L_HUMAN			2	411	-			50					Q8N767	Missense_Mutation	SNP	ENST00000559471.1	37	c.148A>T	CCDS53942.1	.	.	.	.	.	.	.	.	.	.	T	28.1	4.892907	0.91889	.	.	ENSG00000138593	ENST00000261847;ENST00000380927	T	0.77877	-1.13	5.36	5.36	0.76844	.	0.000000	0.85682	D	0.000000	T	0.80476	0.4630	L	0.34521	1.04	0.58432	D	0.999999	D;D	0.89917	0.999;1.0	D;D	0.83275	0.991;0.996	T	0.75314	-0.3361	10	0.09843	T	0.71	.	15.3598	0.74464	0.0:0.0:0.0:1.0	.	50;50	Q93073;Q93073-2	SBP2L_HUMAN;.	F	50	ENSP00000261847:I50F	ENSP00000261847:I50F	I	-	1	0	SECISBP2L	47117135	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.678000	0.84035	2.011000	0.59026	0.533000	0.62120	ATT		0.398	SECISBP2L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417277.1	NM_014701		34	82	0	0	0	0.779181	0	34	82					A	49329843	T	A	49329843	3	1	69	1	0	0	0	0	1	0	0	0	14007	1493	52	5	3086	5	SECISBP2L	15	49329843	Missense_Mutation	SNP	T	TCGA-EJ-5522-01A-01D-1576-08		49329843	53201549	30	3605											
ATP8B4	79895	broad.mit.edu	37	chr15	50190384	50190384	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gagtgaccctgcagcaaattAcagtcttacacatgcaagca	14	8	8	11	0	1	1	0	1	1	0	1	2	1	1	1	0	6	4	1	0	4	2			TCGA-EJ-5522-01A-01D-1576-08	TCGA-EJ-5522-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a89182-c17c-42a8-af9e-4fcc861e336c	9b4b6723-8e0e-4e98-a726-c023723e08b1	g.chr15:50190384A>G	ENST00000284509.6	-	22	2495	c.2354T>C	c.(2353-2355)gTa>gCa	p.V785A	ATP8B4_ENST00000559829.1_Missense_Mutation_p.V785A	NM_024837.2	NP_079113.2	Q8TF62	AT8B4_HUMAN	ATPase, class I, type 8B, member 4	785						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)	p.V785A(1)		breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1)	73		all_lung(180;0.00183)		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)		GCAGCAAATTACAGTCTTACA	0.423																																						ENST00000284509.6																			1	Substitution - Missense(1)	p.V785A(1)	prostate(1)	breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1)	73						c.(2353-2355)gTa>gCa		ATPase, class I, type 8B, member 4							136	119	125					15																	50190384		2196	4294	6490	SO:0001583	missense	79895				ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr15:50190384A>G	AB075819	CCDS32238.1	15q21.2	2010-04-20	2007-09-19		ENSG00000104043	ENSG00000104043		"ATPases / P-type"	13536	protein-coding gene	gene with protein product		609123	"ATPase, Class I, type 8B, member 4"			11015572	Standard	NM_024837		Approved	ATPIM, KIAA1939	uc001zxu.3	Q8TF62		ENST00000284509.6:c.2354T>C	15.37:g.50190384A>G	ENSP00000284509:p.Val785Ala					ATP8B4_ENST00000559829.1_Missense_Mutation_p.V785A	p.V785A	NM_024837.2	NP_079113.2	Q8TF62	AT8B4_HUMAN		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)	22	2495	-		all_lung(180;0.00183)	785					Q9H727	Missense_Mutation	SNP	ENST00000284509.6	37	c.2354T>C	CCDS32238.1	.	.	.	.	.	.	.	.	.	.	A	27.4	4.829831	0.91036	.	.	ENSG00000104043	ENST00000284509	D	0.88664	-2.41	5.92	5.92	0.95590	HAD-like domain (1);	0.069125	0.56097	D	0.000021	D	0.94703	0.8291	M	0.85197	2.74	0.53688	D	0.999972	D;D	0.89917	1.0;0.999	D;D	0.80764	0.994;0.986	D	0.95302	0.8404	10	0.87932	D	0	.	14.3151	0.66443	1.0:0.0:0.0:0.0	.	5;785	B3KVY8;Q8TF62	.;AT8B4_HUMAN	A	785	ENSP00000284509:V785A	ENSP00000284509:V785A	V	-	2	0	ATP8B4	47977676	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	9.281000	0.95811	2.266000	0.75297	0.533000	0.62120	GTA		0.423	ATP8B4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418100.1	NM_024837		4	154	0	0	0	0.150653	0	4	154					G	50190384	A	G	50190384	3	3	69	1	0	0	0	0	1	0	0	0	1197	391	14	4	1252	4	ATP8B4	15	50190384	Missense_Mutation	SNP	A	TCGA-EJ-5522-01A-01D-1576-08	860541	50190384	52341008	31	3606											
FAM83G	644815	broad.mit.edu	37	chr17	18874710	18874710	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccggggggcttgagccctccGtttagaatccgatgaggccc	6	8	14	13	3	0	3	0	2	0	1	2	4	2	3	5	4	1	2	5	4	2	3			TCGA-EJ-5522-01A-01D-1576-08	TCGA-EJ-5522-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a89182-c17c-42a8-af9e-4fcc861e336c	9b4b6723-8e0e-4e98-a726-c023723e08b1	g.chr17:18874710G>A	ENST00000388995.6	-	6	2657	c.2434C>T	c.(2434-2436)Cgg>Tgg	p.R812W	SLC5A10_ENST00000395647.2_Intron|SLC5A10_ENST00000417251.2_Intron|SLC5A10_ENST00000395645.3_Intron|SLC5A10_ENST00000395643.2_Intron|SLC5A10_ENST00000395642.1_Intron|SLC5A10_ENST00000317977.6_Intron|FAM83G_ENST00000585154.2_Missense_Mutation_p.R812W|FAM83G_ENST00000345041.4_Missense_Mutation_p.R812W			A6ND36	FA83G_HUMAN	family with sequence similarity 83, member G	812					BMP signaling pathway (GO:0030509)	cytosol (GO:0005829)|nucleus (GO:0005634)		p.R812W(1)		central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(3)|stomach(1)	22						TGAGCCCTCCGTTTAGAATCC	0.622																																						ENST00000388995.6																			1	Substitution - Missense(1)	p.R812W(1)	prostate(1)	central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(3)|stomach(1)	22						c.(2434-2436)Cgg>Tgg		family with sequence similarity 83, member G							52	63	59					17																	18874710		2131	4231	6362	SO:0001583	missense	644815							g.chr17:18874710G>A	AK123558	CCDS42276.1	17p11.2	2014-05-01	2006-03-22		ENSG00000188522	ENSG00000188522			32554	protein-coding gene	gene with protein product	"protein associated with SMAD1"	615886				24554596	Standard	NM_001039999		Approved	FLJ41564, PAWS1	uc002guw.3	A6ND36	OTTHUMG00000059411	ENST00000388995.6:c.2434C>T	17.37:g.18874710G>A	ENSP00000373647:p.Arg812Trp					FAM83G_ENST00000345041.4_Missense_Mutation_p.R812W|SLC5A10_ENST00000395643.2_Intron|SLC5A10_ENST00000395642.1_Intron|FAM83G_ENST00000585154.2_Missense_Mutation_p.R812W|SLC5A10_ENST00000417251.2_Intron|SLC5A10_ENST00000395647.2_Intron|SLC5A10_ENST00000317977.6_Intron|SLC5A10_ENST00000395645.3_Intron	p.R812W			A6ND36	FA83G_HUMAN			6	2657	-			812					Q3KQZ4|Q6ZW60	Missense_Mutation	SNP	ENST00000388995.6	37	c.2434C>T	CCDS42276.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.048972	0.75846	.	.	ENSG00000188522	ENST00000388995;ENST00000345041	T;T	0.18657	2.2;2.2	5.54	4.5	0.54988	.	0.477725	0.20761	N	0.086169	T	0.43411	0.1246	M	0.72894	2.215	0.36829	D	0.886794	D	0.76494	0.999	D	0.65010	0.931	T	0.50693	-0.8798	10	0.72032	D	0.01	-33.3609	14.4256	0.67212	0.0:0.0:0.8519:0.1481	.	812	A6ND36	FA83G_HUMAN	W	812	ENSP00000373647:R812W;ENSP00000343279:R812W	ENSP00000343279:R812W	R	-	1	2	FAM83G	18815435	1.000000	0.71417	0.973000	0.42090	0.687000	0.40016	3.447000	0.52936	2.768000	0.95171	0.561000	0.74099	CGG		0.622	FAM83G-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253108.4			14	69	0	0	0	0.681144	0	14	69					A	18874710	G	A	18874710	3	1	69	1	0	0	0	0	1	0	0	0	5639	1144	40	1	41	1	FAM83G	17	18874710	Missense_Mutation	SNP	G	TCGA-EJ-5522-01A-01D-1576-08		18874710	62320500	32	3607											
LPO	4025	broad.mit.edu	37	chr17	56345181	56345181	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aaccctggggtcttcacgaaCgagcagaaggactctctaca	12	7	10	12	2	3	1	1	0	2	1	4	4	3	2	1	3	4	1	1	3	4	2			TCGA-EJ-5522-01A-01D-1576-08	TCGA-EJ-5522-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a89182-c17c-42a8-af9e-4fcc861e336c	9b4b6723-8e0e-4e98-a726-c023723e08b1	g.chr17:56345181C>T	ENST00000262290.4	+	13	2281	c.1965C>T	c.(1963-1965)aaC>aaT	p.N655N	LPO_ENST00000421678.2_Silent_p.N572N|LPO_ENST00000582328.1_Silent_p.N572N|LPO_ENST00000543544.1_Silent_p.N596N	NM_006151.2	NP_006142.1	P22079	PERL_HUMAN	lactoperoxidase	655					defense response to bacterium (GO:0042742)|detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|hydrogen peroxide catabolic process (GO:0042744)|response to oxidative stress (GO:0006979)|thiocyanate metabolic process (GO:0018969)	basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	heme binding (GO:0020037)|metal ion binding (GO:0046872)|thiocyanate peroxidase activity (GO:0036393)	p.N655N(1)		breast(5)|cervix(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	30						TCTTCACGAACGAGCAGAAGG	0.577																																						ENST00000262290.4																			1	Substitution - coding silent(1)	p.N655N(1)	prostate(1)	breast(5)|cervix(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	30						c.(1963-1965)aaC>aaT		lactoperoxidase							87	84	85					17																	56345181		2203	4300	6503	SO:0001819	synonymous_variant	0				hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity	g.chr17:56345181C>T	M58151	CCDS32689.1, CCDS54149.1	17q23.1	2008-02-05				ENSG00000167419	1.11.1.7		6678	protein-coding gene	gene with protein product		150205				2222811, 8964511	Standard	NM_006151		Approved	SPO	uc002ivt.3	P22079		ENST00000262290.4:c.1965C>T	17.37:g.56345181C>T						LPO_ENST00000543544.1_Silent_p.N596N|LPO_ENST00000421678.2_Silent_p.N572N|LPO_ENST00000582328.1_Silent_p.N572N	p.N655N	NM_006151.2	NP_006142.1	P22079	PERL_HUMAN			13	2281	+			655					A5JUY4|E7EMJ3|Q13408|Q3KNQ2	Silent	SNP	ENST00000262290.4	37	c.1965C>T	CCDS32689.1																																																																																				0.577	LPO-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000443961.1			19	83	0	0	0	0.557998	0	19	83					T	56345181	C	T	56345181	2	4	69	1	0	0	0	0	0	0	0	1	8922	535	19	1		1	LPO	17	56345181	Silent	SNP	C	TCGA-EJ-5522-01A-01D-1576-08	37470471	56345181	24850029	33	3608											
PRAM1	84106	broad.mit.edu	37	chr19	8564163	8564163	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggttcggaggggggtctggCggggtgactgagttcgtcgg	3	9	23	6	4	1	2	0	2	1	0	4	3	1	3	0	9	0	2	0	9	0	2			TCGA-EJ-5522-01A-01D-1576-08	TCGA-EJ-5522-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a89182-c17c-42a8-af9e-4fcc861e336c	9b4b6723-8e0e-4e98-a726-c023723e08b1	g.chr19:8564163C>T	ENST00000423345.4	-	2	1049	c.529G>A	c.(529-531)Gcc>Acc	p.A177T	PRAM1_ENST00000255612.3_Missense_Mutation_p.A177T			Q96QH2	PRAM_HUMAN	PML-RARA regulated adaptor molecule 1	225	Pro-rich.				integrin-mediated signaling pathway (GO:0007229)|regulation of neutrophil degranulation (GO:0043313)		lipid binding (GO:0008289)	p.A177T(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(1)	19						GGGGGTCTGGCGGGGTGACTG	0.697																																						ENST00000423345.4																			1	Substitution - Missense(1)	p.A177T(1)	prostate(1)	breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(1)	19						c.(529-531)Gcc>Acc		PML-RARA regulated adaptor molecule 1							13	15	14					19																	8564163		1908	4091	5999	SO:0001583	missense	84106						lipid binding|protein binding	g.chr19:8564163C>T	BC028012	CCDS45954.1, CCDS45954.2	19p13.2	2009-01-21				ENSG00000133246			30091	protein-coding gene	gene with protein product		606466				11301322, 15572693	Standard	NM_032152		Approved	PML-RAR	uc002mkd.3	Q96QH2		ENST00000423345.4:c.529G>A	19.37:g.8564163C>T	ENSP00000408342:p.Ala177Thr					PRAM1_ENST00000255612.3_Missense_Mutation_p.A177T	p.A177T			Q96QH2	PRAM_HUMAN			2	1049	-			225			Pro-rich.		Q8N6W7	Missense_Mutation	SNP	ENST00000423345.4	37	c.529G>A	CCDS45954.2	.	.	.	.	.	.	.	.	.	.	C	10.16	1.275173	0.23307	.	.	ENSG00000133246	ENST00000255612;ENST00000423345	T;T	0.16073	2.37;2.37	3.54	-4.02	0.04034	.	2.211840	0.02262	N	0.067633	T	0.08980	0.0222	N	0.19112	0.55	0.09310	N	1	P;P	0.49185	0.733;0.92	B;B	0.39706	0.242;0.307	T	0.15896	-1.0421	10	0.41790	T	0.15	.	1.324	0.02122	0.3281:0.3651:0.1633:0.1435	.	177;225	Q96QH2-2;Q96QH2	.;PRAM_HUMAN	T	177	ENSP00000255612:A177T;ENSP00000408342:A177T	ENSP00000255612:A177T	A	-	1	0	PRAM1	8470163	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-0.784000	0.04633	-0.658000	0.05366	-0.230000	0.12252	GCC		0.697	PRAM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397040.3	NM_032152		5	21	0	0	0	0.184627	0	5	21					T	8564163	C	T	8564163	3	4	69	1	0	0	0	0	1	0	0	0	12423	768	27	1	1516	1	PRAM1	19	8564163	Missense_Mutation	SNP	C	TCGA-EJ-5522-01A-01D-1576-08		8564163	50564820	34	3609											
LYL1	4066	broad.mit.edu	37	chr19	13211896	13211896	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcgaggcaggcttagggggTggggcaggcgctgggctggg	4	5	25	7	2	0	0	0	0	0	0	0	1	0	0	0	10	0	5	0	10	1	1			TCGA-EJ-5522-01A-01D-1576-08	TCGA-EJ-5522-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a89182-c17c-42a8-af9e-4fcc861e336c	9b4b6723-8e0e-4e98-a726-c023723e08b1	g.chr19:13211896T>G	ENST00000264824.4	-	2	450	c.90A>C	c.(88-90)ccA>ccC	p.P30P		NM_005583.4	NP_005574.2	P12980	LYL1_HUMAN	lymphoblastic leukemia associated hematopoiesis regulator 1	30					B cell differentiation (GO:0030183)|blood vessel maturation (GO:0001955)|definitive hemopoiesis (GO:0060216)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)	p.P30P(1)		cervix(1)|endometrium(2)|kidney(1)|lung(2)|prostate(1)	7			OV - Ovarian serous cystadenocarcinoma(19;6.08e-22)			GCTTAGGGGGTGGGGCAGGCG	0.706			T	TRB@	T-ALL																																	ENST00000264824.4				Dom	yes		19	19p13.2-p13.1	4066	T	lymphoblastic leukemia derived sequence 1			L	TRB@		T-ALL		1	Substitution - coding silent(1)	p.P30P(1)	prostate(1)	cervix(1)|endometrium(2)|kidney(1)|lung(2)|prostate(1)	7						c.(88-90)ccA>ccC		lymphoblastic leukemia derived sequence 1							5	6	6					19																	13211896		1931	3948	5879	SO:0001819	synonymous_variant	4066				B cell differentiation|blood vessel maturation|definitive hemopoiesis|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	g.chr19:13211896T>G		CCDS12292.1	19p13.2	2014-01-20	2014-01-20			ENSG00000104903		"Basic helix-loop-helix proteins"	6734	protein-coding gene	gene with protein product		151440	"lymphoblastic leukemia derived sequence 1"			2752424	Standard	NM_005583		Approved	bHLHa18	uc002mwi.3	P12980		ENST00000264824.4:c.90A>C	19.37:g.13211896T>G							p.P30P	NM_005583.4	NP_005574.2	P12980	LYL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;6.08e-22)		2	450	-			30					O76102	Silent	SNP	ENST00000264824.4	37	c.90A>C	CCDS12292.1																																																																																				0.706	LYL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452827.1	NM_005583		3	8	0	0	0	0.150653	0	3	8					G	13211896	T	G	13211896	2	3	69	1	0	0	0	0	0	0	0	1	9106	1683	59	5		5	LYL1	19	13211896	Silent	SNP	T	TCGA-EJ-5522-01A-01D-1576-08	4647733	13211896	45917087	35	3610											
ABCG1	9619	broad.mit.edu	37	chr21	43702403	43702403	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggtcaaggagatactgacagCgctgggcttgctgtcttgcg	7	10	15	9	2	2	2	1	1	1	1	2	3	2	2	0	3	4	3	0	3	2	3			TCGA-EJ-5522-01A-01D-1576-08	TCGA-EJ-5522-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a89182-c17c-42a8-af9e-4fcc861e336c	9b4b6723-8e0e-4e98-a726-c023723e08b1	g.chr21:43702403C>A	ENST00000361802.2	+	6	753	c.608C>A	c.(607-609)gCg>gAg	p.A203E	ABCG1_ENST00000398457.2_Missense_Mutation_p.A205E|ABCG1_ENST00000343687.3_Missense_Mutation_p.A214E|ABCG1_ENST00000347800.2_Missense_Mutation_p.A200E|ABCG1_ENST00000398437.1_Missense_Mutation_p.A349E|ABCG1_ENST00000462050.1_3'UTR|ABCG1_ENST00000398449.3_Missense_Mutation_p.A203E|ABCG1_ENST00000340588.4_Missense_Mutation_p.A311E	NM_004915.3	NP_004906.3	P45844	ABCG1_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 1	203	ABC transporter. {ECO:0000255|PROSITE- ProRule:PRU00434}.				amyloid precursor protein catabolic process (GO:0042987)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|detection of hormone stimulus (GO:0009720)|glycoprotein transport (GO:0034436)|high-density lipoprotein particle remodeling (GO:0034375)|intracellular cholesterol transport (GO:0032367)|lipoprotein metabolic process (GO:0042157)|low-density lipoprotein particle remodeling (GO:0034374)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|phospholipid efflux (GO:0033700)|phospholipid homeostasis (GO:0055091)|positive regulation of cholesterol biosynthetic process (GO:0045542)|positive regulation of cholesterol efflux (GO:0010875)|regulation of cholesterol esterification (GO:0010872)|regulation of transcription, DNA-templated (GO:0006355)|response to high density lipoprotein particle (GO:0055099)|response to lipid (GO:0033993)|response to organic substance (GO:0010033)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)|toxin transport (GO:1901998)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|cholesterol binding (GO:0015485)|cholesterol transporter activity (GO:0017127)|glycoprotein transporter activity (GO:0034437)|phospholipid binding (GO:0005543)|phospholipid transporter activity (GO:0005548)|protein dimerization activity (GO:0046983)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|sterol-transporting ATPase activity (GO:0034041)|toxin transporter activity (GO:0019534)	p.A205E(1)|p.A203E(1)		breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|ovary(3)|prostate(2)|stomach(1)	29					Adenosine triphosphate(DB00171)	ATACTGACAGCGCTGGGCTTG	0.637																																						ENST00000398437.1																			2	Substitution - Missense(2)	p.A205E(1)|p.A203E(1)	prostate(2)	breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|ovary(3)|prostate(2)|stomach(1)	29						c.(1045-1047)gCg>gAg		ATP-binding cassette, sub-family G (WHITE), member 1	Adenosine triphosphate(DB00171)						58	56	57					21																	43702403		2203	4300	6503	SO:0001583	missense	9619				amyloid precursor protein catabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|detection of hormone stimulus|high-density lipoprotein particle remodeling|intracellular cholesterol transport|lipoprotein metabolic process|low-density lipoprotein particle remodeling|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|positive regulation of cholesterol biosynthetic process|regulation of cholesterol esterification|regulation of transcription, DNA-dependent|response to lipid|reverse cholesterol transport	endoplasmic reticulum membrane|external side of plasma membrane|Golgi membrane|recycling endosome	ADP binding|ATP binding|cholesterol transporter activity|glycoprotein transporter activity|phospholipid transporter activity|protein heterodimerization activity|protein homodimerization activity|sterol-transporting ATPase activity|toxin transporter activity	g.chr21:43702403C>A	U34919	CCDS13681.1, CCDS13682.1, CCDS13683.1, CCDS42937.1, CCDS42938.1	21q22.3	2012-03-14			ENSG00000160179	ENSG00000160179		"ATP binding cassette transporters / subfamily G"	73	protein-coding gene	gene with protein product	"ATP-binding cassette transporter 8"	603076				8659545, 16870176	Standard	NM_016818		Approved	ABC8	uc002zaq.3	P45844	OTTHUMG00000086791	ENST00000361802.2:c.608C>A	21.37:g.43702403C>A	ENSP00000354995:p.Ala203Glu					ABCG1_ENST00000340588.4_Missense_Mutation_p.A311E|ABCG1_ENST00000398457.2_Missense_Mutation_p.A205E|ABCG1_ENST00000347800.2_Missense_Mutation_p.A200E|ABCG1_ENST00000462050.1_3'UTR|ABCG1_ENST00000343687.3_Missense_Mutation_p.A214E|ABCG1_ENST00000398449.3_Missense_Mutation_p.A203E|ABCG1_ENST00000361802.2_Missense_Mutation_p.A203E	p.A349E			P45844	ABCG1_HUMAN			7	1194	+			203					Q86SU8|Q96L76|Q9BXK6|Q9BXK7|Q9BXK8|Q9BXK9|Q9BXL0|Q9BXL1|Q9BXL2|Q9BXL3|Q9BXL4	Missense_Mutation	SNP	ENST00000361802.2	37	c.1046C>A	CCDS13682.1	.	.	.	.	.	.	.	.	.	.	C	14.76	2.630296	0.46944	.	.	ENSG00000160179	ENST00000398457;ENST00000347800;ENST00000450121;ENST00000398449;ENST00000361802;ENST00000343687;ENST00000398437;ENST00000340588	D;D;D;D;D;D;D;D	0.84944	-1.92;-1.92;-1.73;-1.92;-1.92;-1.92;-1.92;-1.92	4.27	4.27	0.50696	ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.000000	0.85682	D	0.000000	D	0.82351	0.5018	N	0.03967	-0.31	0.80722	D	1	P;B;P;B;B;D	0.89917	0.519;0.025;0.926;0.025;0.025;1.0	B;B;P;B;B;D	0.87578	0.246;0.032;0.877;0.032;0.032;0.998	T	0.83265	-0.0046	9	.	.	.	-19.0378	17.065	0.86556	0.0:1.0:0.0:0.0	.	214;214;203;203;200;205	B4DPT7;P45844-2;P45844;P45844-4;P45844-5;P45844-3	.;.;ABCG1_HUMAN;.;.;.	E	205;200;186;203;203;214;349;311	ENSP00000381475:A205E;ENSP00000291524:A200E;ENSP00000414541:A186E;ENSP00000381467:A203E;ENSP00000354995:A203E;ENSP00000339744:A214E;ENSP00000381464:A349E;ENSP00000343820:A311E	.	A	+	2	0	ABCG1	42575472	1.000000	0.71417	0.929000	0.37066	0.894000	0.52154	7.435000	0.80391	2.093000	0.63338	0.591000	0.81541	GCG		0.637	ABCG1-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000195318.2	NM_207174		5	80	1	0	0.000602214	0.184627	0.000696679	5	80					A	43702403	C	A	43702403	3	1	69	1	0	0	0	0	1	0	0	0	68	768	27	5	798	5	ABCG1	21	43702403	Missense_Mutation	SNP	C	TCGA-EJ-5522-01A-01D-1576-08		43702403	4427492	36	3611											
PIWIL3	440822	broad.mit.edu	37	chr22	25144942	25144942	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacggacaaaaaattggtatCaaatttcaaatcccagagtt	17	10	7	7	1	2	1	2	0	0	1	3	3	3	2	1	2	0	2	1	2	6	4			TCGA-EJ-5522-01A-01D-1576-08	TCGA-EJ-5522-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a89182-c17c-42a8-af9e-4fcc861e336c	9b4b6723-8e0e-4e98-a726-c023723e08b1	g.chr22:25144942C>A	ENST00000332271.5	-	12	1797	c.1381G>T	c.(1381-1383)Gat>Tat	p.D461Y	PIWIL3_ENST00000532537.2_5'UTR|PIWIL3_ENST00000533313.1_Missense_Mutation_p.D352Y|PIWIL3_ENST00000527701.1_Missense_Mutation_p.D352Y	NM_001008496.3|NM_001255975.1	NP_001008496.2|NP_001242904.1	Q7Z3Z3	PIWL3_HUMAN	piwi-like RNA-mediated gene silencing 3	461					cell differentiation (GO:0030154)|gene silencing by RNA (GO:0031047)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|regulation of translation (GO:0006417)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)	RNA binding (GO:0003723)	p.D461Y(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(15)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						AAATTGGTATCAAATTTCAAA	0.348																																						ENST00000332271.5																			1	Substitution - Missense(1)	p.D461Y(1)	prostate(1)	NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(15)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						c.(1381-1383)Gat>Tat		piwi-like RNA-mediated gene silencing 3							93	89	91					22																	25144942		2202	4300	6502	SO:0001583	missense	440822				cell differentiation|gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatogenesis	cytoplasm	RNA binding	g.chr22:25144942C>A	AB079368	CCDS33623.1	22q11.23	2013-02-15	2013-02-15		ENSG00000184571	ENSG00000184571		"Argonaute/PIWI family"	18443	protein-coding gene	gene with protein product		610314	"piwi-like 3 (Drosophila)"			12906857	Standard	NM_001008496		Approved	HIWI3	uc003abd.2	Q7Z3Z3	OTTHUMG00000150788	ENST00000332271.5:c.1381G>T	22.37:g.25144942C>A	ENSP00000330031:p.Asp461Tyr					PIWIL3_ENST00000532537.2_5'UTR|PIWIL3_ENST00000533313.1_Missense_Mutation_p.D352Y|PIWIL3_ENST00000527701.1_Missense_Mutation_p.D352Y	p.D461Y	NM_001008496.3|NM_001255975.1	NP_001008496.2|NP_001242904.1	Q7Z3Z3	PIWL3_HUMAN			12	1797	-			461						Missense_Mutation	SNP	ENST00000332271.5	37	c.1381G>T	CCDS33623.1	.	.	.	.	.	.	.	.	.	.	C	14.87	2.663456	0.47572	.	.	ENSG00000184571	ENST00000332271;ENST00000533313;ENST00000527701	T;T;T	0.12879	2.64;2.64;2.64	2.29	2.29	0.28610	Ribonuclease H-like (1);	0.261185	0.35870	U	0.002940	T	0.28200	0.0696	L	0.52905	1.665	0.39545	D	0.968879	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.74674	0.984;0.94;0.971	T	0.08310	-1.0728	10	0.87932	D	0	-10.5855	10.673	0.45770	0.0:1.0:0.0:0.0	.	352;461;461	E9PIP6;B4DYF7;Q7Z3Z3	.;.;PIWL3_HUMAN	Y	461;352;352	ENSP00000330031:D461Y;ENSP00000431843:D352Y;ENSP00000435718:D352Y	ENSP00000330031:D461Y	D	-	1	0	PIWIL3	23474942	0.981000	0.34729	0.012000	0.15200	0.025000	0.11179	1.569000	0.36428	1.610000	0.50200	0.313000	0.20887	GAT		0.348	PIWIL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320084.2	NM_001008496		46	137	1	0	6.68952e-21	0.864702	8.77071e-21	46	137					A	25144942	C	A	25144942	3	1	69	1	0	0	0	0	1	0	0	0	11959	826	29	5	1307	5	PIWIL3	22	25144942	Missense_Mutation	SNP	C	TCGA-EJ-5522-01A-01D-1576-08		25144942	26159624	37	3612											
ASPHD2	57168	broad.mit.edu	37	chr22	26830386	26830386	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaacaatgtttttgggaacGcgtgcatctctgtgctgagc	8	12	13	8	2	1	1	0	1	1	0	2	3	1	3	0	2	5	3	0	2	3	2			TCGA-EJ-5522-01A-01D-1576-08	TCGA-EJ-5522-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a89182-c17c-42a8-af9e-4fcc861e336c	9b4b6723-8e0e-4e98-a726-c023723e08b1	g.chr22:26830386G>A	ENST00000215906.5	+	2	1243	c.805G>A	c.(805-807)Gcg>Acg	p.A269T		NM_020437.4	NP_065170.2	Q6ICH7	ASPH2_HUMAN	aspartate beta-hydroxylase domain containing 2	269					peptidyl-amino acid modification (GO:0018193)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	dioxygenase activity (GO:0051213)|metal ion binding (GO:0046872)	p.A243T(1)		endometrium(3)|large_intestine(3)|lung(4)|ovary(1)|prostate(4)|urinary_tract(1)	16						TTTTGGGAACGCGTGCATCTC	0.547																																						ENST00000215906.5																			1	Substitution - Missense(1)	p.A243T(1)	prostate(1)	endometrium(3)|large_intestine(3)|lung(4)|ovary(1)|prostate(4)|urinary_tract(1)	16						c.(805-807)Gcg>Acg		aspartate beta-hydroxylase domain containing 2							185	182	183					22																	26830386		2203	4300	6503	SO:0001583	missense	57168				peptidyl-amino acid modification	integral to endoplasmic reticulum membrane	oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptide-aspartate beta-dioxygenase activity	g.chr22:26830386G>A	AK097157	CCDS13834.2	22q12.1	2006-02-02			ENSG00000128203	ENSG00000128203			30437	protein-coding gene	gene with protein product							Standard	NM_020437		Approved	FLJ39838	uc003acg.2	Q6ICH7	OTTHUMG00000150884	ENST00000215906.5:c.805G>A	22.37:g.26830386G>A	ENSP00000215906:p.Ala269Thr						p.A269T	NM_020437.4	NP_065170.2	Q6ICH7	ASPH2_HUMAN			2	1243	+			269					B2RCH3|Q7L0W3|Q9NSN3	Missense_Mutation	SNP	ENST00000215906.5	37	c.805G>A	CCDS13834.2	.	.	.	.	.	.	.	.	.	.	G	25.3	4.619616	0.87460	.	.	ENSG00000128203	ENST00000215906	T	0.44083	0.93	4.82	4.82	0.62117	.	0.000000	0.85682	D	0.000000	T	0.69593	0.3128	M	0.87381	2.88	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.75459	-0.3310	10	0.62326	D	0.03	-33.4365	17.0945	0.86631	0.0:0.0:1.0:0.0	.	269	Q6ICH7	ASPH2_HUMAN	T	269	ENSP00000215906:A269T	ENSP00000215906:A269T	A	+	1	0	ASPHD2	25160386	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.808000	0.91939	2.498000	0.84270	0.557000	0.71058	GCG		0.547	ASPHD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320422.1	NM_020437		51	206	0	0	0	0.870114	0	51	206					A	26830386	G	A	26830386	3	1	69	1	0	0	0	0	1	0	0	0	1055	1087	38	1	807	1	ASPHD2	22	26830386	Missense_Mutation	SNP	G	TCGA-EJ-5522-01A-01D-1576-08	1685444	26830386	24474180	38	3613											
CCNB3	85417	broad.mit.edu	37	chrX	50054016	50054016	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttgtccttcaaggagccattAgccttacaagagagtcccac	11	10	8	12	0	1	1	1	0	0	1	3	3	3	2	4	1	3	0	4	1	4	4			TCGA-EJ-5522-01A-01D-1576-08	TCGA-EJ-5522-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a89182-c17c-42a8-af9e-4fcc861e336c	9b4b6723-8e0e-4e98-a726-c023723e08b1	g.chrX:50054016A>G	ENST00000376042.1	+	6	3145	c.2847A>G	c.(2845-2847)ttA>ttG	p.L949L	CCNB3_ENST00000376038.1_Intron|CCNB3_ENST00000348603.2_Intron|CCNB3_ENST00000276014.7_Silent_p.L949L			Q8WWL7	CCNB3_HUMAN	cyclin B3	949					meiotic nuclear division (GO:0007126)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)	nucleus (GO:0005634)		p.L949L(5)		breast(3)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Ovarian(276;0.236)					AGGAGCCATTAGCCTTACAAG	0.483																																						ENST00000376042.1																			5	Substitution - coding silent(5)	p.L949L(5)	prostate(3)|lung(2)	breast(3)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	75						c.(2845-2847)ttA>ttG		cyclin B3							87	82	84					X																	50054016		2203	4300	6503	SO:0001819	synonymous_variant	85417				cell division|meiosis|regulation of cyclin-dependent protein kinase activity|regulation of G2/M transition of mitotic cell cycle	nucleus	protein kinase binding	g.chrX:50054016A>G	AJ314764	CCDS14331.1, CCDS14332.1	Xp11	2008-07-03			ENSG00000147082	ENSG00000147082			18709	protein-coding gene	gene with protein product		300456				11846420, 12185076	Standard	XM_006724610		Approved		uc004doy.3	Q8WWL7	OTTHUMG00000021519	ENST00000376042.1:c.2847A>G	X.37:g.50054016A>G						CCNB3_ENST00000376038.1_Intron|CCNB3_ENST00000348603.2_Intron|CCNB3_ENST00000276014.7_Silent_p.L949L	p.L949L			Q8WWL7	CCNB3_HUMAN			6	3145	+	Ovarian(276;0.236)		949					B1AQI5|B1AQI6|Q96SB5|Q96SB6|Q96SB7|Q9NT38	Silent	SNP	ENST00000376042.1	37	c.2847A>G	CCDS14331.1																																																																																				0.483	CCNB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056558.1			3	98	0	0	0	0.115264	0	3	98					G	50054016	A	G	50054016	2	3	69	1	0	0	0	0	0	0	0	1	2914	417	15	4		4	CCNB3	23	50054016	Silent	SNP	A	TCGA-EJ-5522-01A-01D-1576-08		50054016	105216544	39	3614											
C1orf174	339448	broad.mit.edu	37	chr1	3807511	3807511	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtcacttttggcaaagaagcGctgtcattcttagggacaag	11	11	11	8	1	3	1	2	0	1	1	3	2	3	2	0	2	1	2	0	2	4	4			TCGA-EJ-5524-01A-01D-1576-08	TCGA-EJ-5524-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb32ee2b-3ed2-4a8b-a7ed-89ef4bef7661	75bec014-53c0-49e0-88d8-fcd261d22ec1	g.chr1:3807511G>A	ENST00000361605.3	-	3	338	c.240C>T	c.(238-240)agC>agT	p.S80S	C1orf174_ENST00000486765.1_5'UTR	NM_207356.2	NP_997239.2	Q8IYL3	CA174_HUMAN	chromosome 1 open reading frame 174	80						nucleus (GO:0005634)		p.S80S(1)		endometrium(1)|large_intestine(5)|lung(4)|prostate(1)	11	all_cancers(77;0.0395)|Ovarian(185;0.0634)|all_lung(157;0.222)|Lung NSC(156;0.227)	all_cancers(23;5.09e-25)|all_epithelial(116;9.35e-17)|all_lung(118;1.09e-06)|Lung NSC(185;0.000139)|all_neural(13;0.00287)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0219)|all_hematologic(16;0.027)|Colorectal(325;0.0276)|Myeloproliferative disorder(586;0.0393)|Lung SC(97;0.0743)|Ovarian(437;0.127)		Epithelial(90;1.55e-39)|OV - Ovarian serous cystadenocarcinoma(86;5.99e-23)|GBM - Glioblastoma multiforme(42;2.22e-17)|Colorectal(212;1.08e-05)|COAD - Colon adenocarcinoma(227;5.49e-05)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(365;0.000365)|KIRC - Kidney renal clear cell carcinoma(229;0.00549)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.19)		GCAAAGAAGCGCTGTCATTCT	0.498																																						ENST00000361605.3																			1	Substitution - coding silent(1)	p.S80S(1)	prostate(1)	endometrium(1)|large_intestine(5)|lung(4)|prostate(1)	11						c.(238-240)agC>agT		chromosome 1 open reading frame 174							78	83	81					1																	3807511		2203	4300	6503	SO:0001819	synonymous_variant	339448							g.chr1:3807511G>A	BC035643	CCDS53.1	1p36.32	2012-07-25			ENSG00000198912	ENSG00000198912			27915	protein-coding gene	gene with protein product						12477932	Standard	NM_207356		Approved	RP13-531C17.2	uc001alf.3	Q8IYL3	OTTHUMG00000003739	ENST00000361605.3:c.240C>T	1.37:g.3807511G>A						C1orf174_ENST00000486765.1_5'UTR	p.S80S	NM_207356.2	NP_997239.2	Q8IYL3	CA174_HUMAN		Epithelial(90;1.55e-39)|OV - Ovarian serous cystadenocarcinoma(86;5.99e-23)|GBM - Glioblastoma multiforme(42;2.22e-17)|Colorectal(212;1.08e-05)|COAD - Colon adenocarcinoma(227;5.49e-05)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(365;0.000365)|KIRC - Kidney renal clear cell carcinoma(229;0.00549)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.19)	3	338	-	all_cancers(77;0.0395)|Ovarian(185;0.0634)|all_lung(157;0.222)|Lung NSC(156;0.227)	all_cancers(23;5.09e-25)|all_epithelial(116;9.35e-17)|all_lung(118;1.09e-06)|Lung NSC(185;0.000139)|all_neural(13;0.00287)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0219)|all_hematologic(16;0.027)|Colorectal(325;0.0276)|Myeloproliferative disorder(586;0.0393)|Lung SC(97;0.0743)|Ovarian(437;0.127)	80					A8K0C8|A8MUG9|Q5SR20|Q6NX36	Silent	SNP	ENST00000361605.3	37	c.240C>T	CCDS53.1																																																																																				0.498	C1orf174-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010539.1	NM_207356		71	144	0	0	0	1	0	71	144					A	3807511	G	A	3807511	2	1	70	1	0	0	0	0	0	0	0	1	2015	1078	38	1		1	C1orf174	1	3807511	Silent	SNP	G	TCGA-EJ-5524-01A-01D-1576-08		3807511	245443110	1	3615											
ARHGEF10L	55160	broad.mit.edu	37	chr1	17949669	17949669	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cggggacctcttcgtggcctCggtaagtgtccccaaacttt	6	11	11	13	3	1	0	0	0	1	0	4	1	2	1	4	4	1	1	4	4	2	3			TCGA-EJ-5524-01A-01D-1576-08	TCGA-EJ-5524-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb32ee2b-3ed2-4a8b-a7ed-89ef4bef7661	75bec014-53c0-49e0-88d8-fcd261d22ec1	g.chr1:17949669C>T	ENST00000361221.3	+	12	1358	c.1199C>T	c.(1198-1200)tCg>tTg	p.S400L	ARHGEF10L_ENST00000375420.3_Splice_Site_p.S158L|ARHGEF10L_ENST00000167825.4_Splice_Site_p.S178L|ARHGEF10L_ENST00000375415.1_Splice_Site_p.S361L|ARHGEF10L_ENST00000434513.1_Splice_Site_p.S400L|ARHGEF10L_ENST00000452522.1_Splice_Site_p.S361L|ARHGEF10L_ENST00000375408.3_Splice_Site_p.S178L|ARHGEF10L_ENST00000469726.1_3'UTR	NM_018125.3	NP_060595	Q9HCE6	ARGAL_HUMAN	Rho guanine nucleotide exchange factor (GEF) 10-like	400	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.					cytoplasm (GO:0005737)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.S400L(3)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	43		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00598)|COAD - Colon adenocarcinoma(227;1.62e-05)|BRCA - Breast invasive adenocarcinoma(304;1.68e-05)|Kidney(64;0.000269)|KIRC - Kidney renal clear cell carcinoma(64;0.00361)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0718)|Lung(427;0.204)		TTCGTGGCCTCGGTAAGTGTC	0.602																																						ENST00000361221.3																			3	Substitution - Missense(3)	p.S400L(3)	prostate(3)	NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	43						c.e12+1		Rho guanine nucleotide exchange factor (GEF) 10-like							90	82	85					1																	17949669		2203	4300	6503	SO:0001630	splice_region_variant	55160				regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity	g.chr1:17949669C>T	AB046846	CCDS182.1, CCDS30617.1	1p36.13	2011-11-16			ENSG00000074964	ENSG00000074964		"Rho guanine nucleotide exchange factors"	25540	protein-coding gene	gene with protein product	"GrinchGEF"	612494				10997877, 16112081	Standard	XM_005245923		Approved	FLJ10521, KIAA1626	uc001ban.3	Q9HCE6	OTTHUMG00000002514	ENST00000361221.3:c.1200+1C>T	1.37:g.17949669C>T						ARHGEF10L_ENST00000452522.1_Splice_Site_p.S361_splice|ARHGEF10L_ENST00000375420.3_Splice_Site_p.S158_splice|ARHGEF10L_ENST00000375415.1_Splice_Site_p.S361_splice|ARHGEF10L_ENST00000469726.1_3'UTR|ARHGEF10L_ENST00000375408.3_Splice_Site_p.S178_splice|ARHGEF10L_ENST00000167825.4_Splice_Site_p.S178_splice|ARHGEF10L_ENST00000434513.1_Splice_Site_p.S400_splice	p.S400_splice	NM_018125.3	NP_060595.3	Q9HCE6	ARGAL_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00598)|COAD - Colon adenocarcinoma(227;1.62e-05)|BRCA - Breast invasive adenocarcinoma(304;1.68e-05)|Kidney(64;0.000269)|KIRC - Kidney renal clear cell carcinoma(64;0.00361)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0718)|Lung(427;0.204)	12	1358	+		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)	400			DH.		B7ZKS1|Q17RW1|Q3YFJ4|Q5VXI5|Q5VXI6|Q66K51|Q6P0L7|Q8NAV5|Q9NVT3	Splice_Site	SNP	ENST00000361221.3	37	c.1200_splice	CCDS182.1	.	.	.	.	.	.	.	.	.	.	C	20.5	3.996292	0.74818	.	.	ENSG00000074964	ENST00000361221;ENST00000452522;ENST00000434513;ENST00000375415;ENST00000375420;ENST00000375408;ENST00000457829;ENST00000167825	T;T;T;T;T;T;T	0.26810	1.71;1.71;1.71;1.71;1.71;1.71;1.71	4.67	4.67	0.58626	Dbl homology (DH) domain (5);	0.000000	0.64402	D	0.000002	T	0.40619	0.1124	L	0.34521	1.04	0.26892	N	0.967306	D;D;D;P;D;D;D;D	0.89917	0.999;0.998;0.999;0.839;0.999;0.998;1.0;1.0	D;D;D;B;D;D;D;D	0.97110	0.977;0.937;0.98;0.228;0.964;0.955;0.999;1.0	T	0.22800	-1.0206	10	0.51188	T	0.08	-12.2766	16.1422	0.81534	0.0:1.0:0.0:0.0	.	178;158;400;178;166;361;361;400	Q5VXI4;B4DTE2;Q9HCE6-5;Q9HCE6-4;B3KX74;Q9HCE6-3;Q9HCE6-2;Q9HCE6	.;.;.;.;.;.;.;ARGAL_HUMAN	L	400;361;400;361;158;178;178;178	ENSP00000355060:S400L;ENSP00000399401:S361L;ENSP00000394621:S400L;ENSP00000364564:S361L;ENSP00000364569:S158L;ENSP00000364557:S178L;ENSP00000167825:S178L	ENSP00000167825:S178L	S	+	2	0	ARHGEF10L	17822256	1.000000	0.71417	1.000000	0.80357	0.380000	0.30137	5.708000	0.68377	2.134000	0.65973	0.561000	0.74099	TCG		0.602	ARHGEF10L-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000007147.1	NM_018125	Missense_Mutation	30	71	0	0	0	1	0	30	71					T	17949669	C	T	17949669	5	4	70	1	0	0	0	0	0	0	1	0	895	898	31	2	1241	2	ARHGEF10L	1	17949669	Splice_Site	SNP	C	TCGA-EJ-5524-01A-01D-1576-08	14142158	17949669	231300952	2	3616											
CLCA2	9635	broad.mit.edu	37	chr1	86916415	86916415	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtaccaggttacacagcaaaCggtaagaaccattagcactg	15	7	9	10	1	0	1	0	0	0	1	0	1	0	1	2	2	6	5	2	2	6	4	rs140158852		TCGA-EJ-5524-01A-01D-1576-08	TCGA-EJ-5524-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb32ee2b-3ed2-4a8b-a7ed-89ef4bef7661	75bec014-53c0-49e0-88d8-fcd261d22ec1	g.chr1:86916415C>T	ENST00000370565.4	+	12	2316	c.2154C>T	c.(2152-2154)aaC>aaT	p.N718N	CLCA2_ENST00000498802.1_3'UTR	NM_006536.5	NP_006527.1	Q9UQC9	CLCA2_HUMAN	chloride channel accessory 2	718					cell adhesion (GO:0007155)|transport (GO:0006810)	cell junction (GO:0030054)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	chloride channel activity (GO:0005254)|ligand-gated ion channel activity (GO:0015276)	p.N718N(1)		NS(2)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	42		Lung NSC(277;0.238)		all cancers(265;0.0233)|Epithelial(280;0.0452)		ACACAGCAAACGGTAAGAACC	0.448																																					Melanoma(157;1000 1898 5363 5664 48018)|Ovarian(88;135 1366 2838 28875 34642)	ENST00000370565.4																			1	Substitution - coding silent(1)	p.N718N(1)	prostate(1)	NS(2)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	42						c.e12+1		chloride channel accessory 2		C		0,4406		0,0,2203	140	125	130		2154	-10.7	0	1	dbSNP_134	130	1,8599	1.2+/-3.3	0,1,4299	yes	coding-synonymous-near-splice	CLCA2	NM_006536.5		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		718/944	86916415	1,13005	2203	4300	6503	SO:0001630	splice_region_variant	9635				cell adhesion	basal plasma membrane|cell junction|extracellular region|integral to plasma membrane	chloride channel activity	g.chr1:86916415C>T		CCDS708.1	1p22.3	2012-02-26	2009-01-29		ENSG00000137975	ENSG00000137975			2016	protein-coding gene	gene with protein product		604003	"chloride channel, calcium activated, family member 2", "chloride channel regulator 2"				Standard	NM_006536		Approved	CLCRG2	uc001dlr.4	Q9UQC9	OTTHUMG00000010256	ENST00000370565.4:c.2155+1C>T	1.37:g.86916415C>T						CLCA2_ENST00000498802.1_3'UTR	p.N718_splice	NM_006536.5	NP_006527.1	Q9UQC9	CLCA2_HUMAN		all cancers(265;0.0233)|Epithelial(280;0.0452)	12	2316	+		Lung NSC(277;0.238)	718					A8K2T3|Q9Y6N2	Splice_Site	SNP	ENST00000370565.4	37	c.2155_splice	CCDS708.1																																																																																				0.448	CLCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028284.1	NM_006536	Silent	31	203	0	0	0	1	0	31	203					T	86916415	C	T	86916415	5	4	70	1	0	0	0	0	0	0	1	0	3458	550	19	1	2200	1	CLCA2	1	86916415	Splice_Site	SNP	C	TCGA-EJ-5524-01A-01D-1576-08	68966746	86916415	162334206	3	3617											
HMGCS2	3158	broad.mit.edu	37	chr1	120302609	120302609	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cacagaccaccatggcataaCgacctgtaaagagaaacaag	18	4	8	11	1	0	2	0	0	0	2	0	4	0	2	3	1	2	2	3	1	5	2			TCGA-EJ-5524-01A-01D-1576-08	TCGA-EJ-5524-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb32ee2b-3ed2-4a8b-a7ed-89ef4bef7661	75bec014-53c0-49e0-88d8-fcd261d22ec1	g.chr1:120302609C>T	ENST00000369406.3	-	3	612	c.563G>A	c.(562-564)cGt>cAt	p.R188H	HMGCS2_ENST00000476640.1_5'UTR|HMGCS2_ENST00000544913.2_Intron	NM_005518.3	NP_005509.1	P54868	HMCS2_HUMAN	3-hydroxy-3-methylglutaryl-CoA synthase 2 (mitochondrial)	188					cellular ketone body metabolic process (GO:0046950)|cellular lipid metabolic process (GO:0044255)|cholesterol biosynthetic process (GO:0006695)|isoprenoid biosynthetic process (GO:0008299)|ketone body biosynthetic process (GO:0046951)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	hydroxymethylglutaryl-CoA synthase activity (GO:0004421)	p.R188H(1)		NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	28	all_cancers(5;6.38e-10)|all_epithelial(5;1.1e-10)|Melanoma(3;1.93e-05)|Breast(55;0.218)|all_neural(166;0.219)	all_lung(203;1.29e-06)|Lung NSC(69;9.35e-06)|all_epithelial(167;0.00124)		Lung(183;0.0112)|LUSC - Lung squamous cell carcinoma(189;0.0595)		CATGGCATAACGACCTGTAAA	0.488																																						ENST00000369406.3																			1	Substitution - Missense(1)	p.R188H(1)	prostate(1)	NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	28						c.(562-564)cGt>cAt		3-hydroxy-3-methylglutaryl-CoA synthase 2 (mitochondrial)							46	45	45					1																	120302609		2203	4300	6503	SO:0001583	missense	3158				acetoacetic acid biosynthetic process|cholesterol biosynthetic process|isoprenoid biosynthetic process|ketone body biosynthetic process	mitochondrial matrix	hydroxymethylglutaryl-CoA synthase activity	g.chr1:120302609C>T	BC044217	CCDS905.1, CCDS53353.1	1p13-p12	2014-09-17	2010-04-30		ENSG00000134240	ENSG00000134240			5008	protein-coding gene	gene with protein product		600234	"3-hydroxy-3-methylglutaryl-Coenzyme A synthase 2 (mitochondrial)"			7851882, 7893153	Standard	NM_005518		Approved		uc001eid.3	P54868	OTTHUMG00000012101	ENST00000369406.3:c.563G>A	1.37:g.120302609C>T	ENSP00000358414:p.Arg188His					HMGCS2_ENST00000476640.1_5'UTR|HMGCS2_ENST00000544913.2_Intron	p.R188H	NM_005518.3	NP_005509.1	P54868	HMCS2_HUMAN		Lung(183;0.0112)|LUSC - Lung squamous cell carcinoma(189;0.0595)	3	612	-	all_cancers(5;6.38e-10)|all_epithelial(5;1.1e-10)|Melanoma(3;1.93e-05)|Breast(55;0.218)|all_neural(166;0.219)	all_lung(203;1.29e-06)|Lung NSC(69;9.35e-06)|all_epithelial(167;0.00124)	188					B7Z8R3|D3Y5K6|Q5SZU2|Q6IBF4	Missense_Mutation	SNP	ENST00000369406.3	37	c.563G>A	CCDS905.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.129819	0.77549	.	.	ENSG00000134240	ENST00000369406	D	0.92099	-2.97	5.25	3.36	0.38483	Hydroxymethylglutaryl-coenzyme A synthase, N-terminal (1);Thiolase-like, subgroup (1);Thiolase-like (1);	0.000000	0.64402	D	0.000005	D	0.96571	0.8881	H	0.97707	4.06	0.80722	D	1	D	0.89917	1.0	D	0.74674	0.984	D	0.96428	0.9317	10	0.87932	D	0	-7.8982	10.8374	0.46696	0.0:0.8422:0.0:0.1578	.	188	P54868	HMCS2_HUMAN	H	188	ENSP00000358414:R188H	ENSP00000358414:R188H	R	-	2	0	HMGCS2	120104132	1.000000	0.71417	0.997000	0.53966	0.840000	0.47671	5.733000	0.68571	0.593000	0.29745	0.400000	0.26472	CGT		0.488	HMGCS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033469.2	NM_005518		26	72	0	0	0	1	0	26	72					T	120302609	C	T	120302609	3	4	70	1	0	0	0	0	1	0	0	0	7233	536	19	1	991	1	HMGCS2	1	120302609	Missense_Mutation	SNP	C	TCGA-EJ-5524-01A-01D-1576-08	33386194	120302609	128948012	4	3618											
SEMA6C	10500	broad.mit.edu	37	chr1	151105861	151105861	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgccccgacgtcggtgggcgCggcgacaagcacaggagacc	8	3	16	14	6	0	1	0	0	0	1	1	4	0	1	3	4	2	1	3	4	1	0			TCGA-EJ-5524-01A-01D-1576-08	TCGA-EJ-5524-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb32ee2b-3ed2-4a8b-a7ed-89ef4bef7661	75bec014-53c0-49e0-88d8-fcd261d22ec1	g.chr1:151105861C>T	ENST00000341697.3	-	19	3583	c.1892G>A	c.(1891-1893)cGc>cAc	p.R631H	SEMA6C_ENST00000479820.1_5'Flank|RP11-68I18.10_ENST00000563624.1_RNA			Q9H3T2	SEM6C_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6C	631					axon guidance (GO:0007411)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)	p.R631H(1)		central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	28	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			TCGGTGGGCGCGGCGACAAGC	0.716																																						ENST00000341697.3																			1	Substitution - Missense(1)	p.R631H(1)	prostate(1)	central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	28						c.(1891-1893)cGc>cAc		sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6C							19	22	21					1																	151105861		2196	4290	6486	SO:0001583	missense	10500					integral to membrane	receptor activity	g.chr1:151105861C>T	AF339154	CCDS984.1, CCDS53363.1, CCDS53364.1	1q21.2	2008-02-05			ENSG00000143434	ENSG00000143434		"Semaphorins"	10740	protein-coding gene	gene with protein product	"m-Sema Y2"	609294				12110693	Standard	NM_030913		Approved	KIAA1869	uc001ewv.3	Q9H3T2	OTTHUMG00000012261	ENST00000341697.3:c.1892G>A	1.37:g.151105861C>T	ENSP00000344148:p.Arg631His						p.R631H			Q9H3T2	SEM6C_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)		19	3583	-	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		631					D3DV15|Q5JR71|Q5JR72|Q5JR73|Q8WXT8|Q8WXT9|Q8WXU0|Q96JF8	Missense_Mutation	SNP	ENST00000341697.3	37	c.1892G>A	CCDS984.1	.	.	.	.	.	.	.	.	.	.	C	10.98	1.504477	0.26949	.	.	ENSG00000143434	ENST00000368914;ENST00000368912;ENST00000368913;ENST00000341697	T;T;T;T	0.55234	0.53;0.53;0.53;0.53	3.99	1.92	0.25849	.	0.757669	0.12812	N	0.437127	T	0.09247	0.0228	N	0.02011	-0.69	0.29020	N	0.886361	B;B;B	0.21309	0.054;0.003;0.032	B;B;B	0.14023	0.01;0.005;0.004	T	0.22068	-1.0227	10	0.38643	T	0.18	.	7.1287	0.25488	0.0:0.7498:0.0:0.2502	.	623;663;631	Q9H3T2-2;Q9H3T2-3;Q9H3T2	.;.;SEM6C_HUMAN	H	631;623;663;631	ENSP00000357910:R631H;ENSP00000357908:R623H;ENSP00000357909:R663H;ENSP00000344148:R631H	ENSP00000344148:R631H	R	-	2	0	SEMA6C	149372485	1.000000	0.71417	0.993000	0.49108	0.995000	0.86356	2.272000	0.43373	0.882000	0.36016	0.561000	0.74099	CGC		0.716	SEMA6C-004	KNOWN	alternative_5_UTR|mRNA_start_NF|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000034074.1	NM_030913		3	24	0	0	0	1	0	3	24					T	151105861	C	T	151105861	3	4	70	1	0	0	0	0	1	0	0	0	14041	768	27	1	904	1	SEMA6C	1	151105861	Missense_Mutation	SNP	C	TCGA-EJ-5524-01A-01D-1576-08	30803252	151105861	98144760	5	3619											
HMCN1	83872	broad.mit.edu	37	chr1	185880818	185880818	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tctttcagggaagctgataaAaaagggatttggcctgcatg	12	11	12	6	0	2	1	1	1	1	0	2	3	2	3	1	3	2	2	1	3	4	3			TCGA-EJ-5524-01A-01D-1576-08	TCGA-EJ-5524-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb32ee2b-3ed2-4a8b-a7ed-89ef4bef7661	75bec014-53c0-49e0-88d8-fcd261d22ec1	g.chr1:185880818A>C	ENST00000271588.4	+	6	1035	c.806A>C	c.(805-807)aAa>aCa	p.K269T	HMCN1_ENST00000367492.2_Missense_Mutation_p.K269T	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	269					response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)	p.K269T(1)		NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						AAGCTGATAAAAAAGGGATTT	0.393																																						ENST00000271588.4																			1	Substitution - Missense(1)	p.K269T(1)	prostate(1)	NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						c.(805-807)aAa>aCa		hemicentin 1							213	227	222					1																	185880818		2203	4300	6503	SO:0001583	missense	83872				response to stimulus|visual perception	basement membrane	calcium ion binding	g.chr1:185880818A>C	AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"Fibulins", "Immunoglobulin superfamily / I-set domain containing"	19194	protein-coding gene	gene with protein product	"fibulin 6"	608548	"age-related macular degeneration 1 (senile macular degeneration)"	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.806A>C	1.37:g.185880818A>C	ENSP00000271588:p.Lys269Thr					HMCN1_ENST00000367492.2_Missense_Mutation_p.K269T	p.K269T	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN			6	1035	+			269					A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Missense_Mutation	SNP	ENST00000271588.4	37	c.806A>C	CCDS30956.1	.	.	.	.	.	.	.	.	.	.	A	8.351	0.830991	0.16820	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	T;T	0.62639	0.01;0.01	5.63	5.63	0.86233	.	0.212444	0.51477	D	0.000096	T	0.33990	0.0882	N	0.04203	-0.255	0.30931	N	0.726908	B	0.17852	0.024	B	0.13407	0.009	T	0.31724	-0.9933	10	0.14656	T	0.56	.	6.9181	0.24371	0.7671:0.152:0.0809:0.0	.	269	Q96RW7	HMCN1_HUMAN	T	269	ENSP00000271588:K269T;ENSP00000356462:K269T	ENSP00000271588:K269T	K	+	2	0	HMCN1	184147441	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	2.047000	0.41269	2.269000	0.75478	0.454000	0.30748	AAA		0.393	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935		24	389	0	0	0	1	0	24	389					C	185880818	A	C	185880818	3	2	70	1	0	0	0	0	1	0	0	0	7220	14	1	5	828	5	HMCN1	1	185880818	Missense_Mutation	SNP	A	TCGA-EJ-5524-01A-01D-1576-08	34774957	185880818	63369803	6	3620											
CYP26B1	56603	broad.mit.edu	37	chr2	72359460	72359460	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccatccacggggtgcaggaCggggaccaaggtgatgcggg	8	4	19	10	3	0	1	0	1	0	0	1	3	1	3	3	7	2	1	3	7	1	0	rs148075682	byFrequency	TCGA-EJ-5524-01A-01D-1576-08	TCGA-EJ-5524-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb32ee2b-3ed2-4a8b-a7ed-89ef4bef7661	75bec014-53c0-49e0-88d8-fcd261d22ec1	g.chr2:72359460C>T	ENST00000001146.2	-	6	1638	c.1435G>A	c.(1435-1437)Gtc>Atc	p.V479I	CYP26B1_ENST00000412253.1_Missense_Mutation_p.V288I|CYP26B1_ENST00000546307.1_Missense_Mutation_p.V404I	NM_001277742.1|NM_019885.2	NP_001264671.1|NP_063938.1	Q9NR63	CP26B_HUMAN	cytochrome P450, family 26, subfamily B, polypeptide 1	479			V -> I (in dbSNP:rs148075682). {ECO:0000269|Ref.4}.		bone morphogenesis (GO:0060349)|cell fate determination (GO:0001709)|cellular response to retinoic acid (GO:0071300)|cornification (GO:0070268)|embryonic limb morphogenesis (GO:0030326)|establishment of skin barrier (GO:0061436)|male meiosis (GO:0007140)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|oxidation-reduction process (GO:0055114)|positive regulation of gene expression (GO:0010628)|positive regulation of tongue muscle cell differentiation (GO:2001037)|proximal/distal pattern formation (GO:0009954)|retinoic acid catabolic process (GO:0034653)|retinoic acid receptor signaling pathway (GO:0048384)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)|tongue morphogenesis (GO:0043587)|vitamin metabolic process (GO:0006766)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|retinoic acid 4-hydroxylase activity (GO:0008401)|retinoic acid binding (GO:0001972)	p.V479I(2)		breast(1)|kidney(3)|large_intestine(2)|lung(16)|ovary(2)|prostate(2)|skin(2)	28						GGGTGCAGGACGGGGACCAAG	0.642													C|||	2	0.000399361	0	0	5008	,	,		17593	0.002		0	False		,,,				2504	0					ENST00000001146.2																			2	Substitution - Missense(2)	p.V479I(2)	prostate(1)|lung(1)	breast(1)|kidney(3)|large_intestine(2)|lung(16)|ovary(2)|prostate(2)|skin(2)	28						c.(1435-1437)Gtc>Atc		cytochrome P450, family 26, subfamily B, polypeptide 1		C	ILE/VAL	0,4404		0,0,2202	45	39	41		1435	3.8	0.9	2	dbSNP_134	41	1,8597	1.2+/-3.3	0,1,4298	no	missense	CYP26B1	NM_019885.2	29	0,1,6500	TT,TC,CC		0.0116,0.0,0.0077	benign	479/513	72359460	1,13001	2202	4299	6501	SO:0001583	missense	56603				cell fate determination|embryonic limb morphogenesis|male meiosis|negative regulation of retinoic acid receptor signaling pathway|proximal/distal pattern formation|retinoic acid catabolic process|spermatogenesis|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|retinoic acid 4-hydroxylase activity|retinoic acid binding	g.chr2:72359460C>T		CCDS1919.1, CCDS62934.1	2p12	2006-11-24			ENSG00000003137	ENSG00000003137		"Cytochrome P450s"	20581	protein-coding gene	gene with protein product		605207				10545224	Standard	NM_019885		Approved	P450RAI-2	uc002sih.2	Q9NR63	OTTHUMG00000129756	ENST00000001146.2:c.1435G>A	2.37:g.72359460C>T	ENSP00000001146:p.Val479Ile					CYP26B1_ENST00000412253.1_Missense_Mutation_p.V288I|CYP26B1_ENST00000546307.1_Missense_Mutation_p.V404I	p.V479I	NM_001277742.1|NM_019885.2	NP_001264671.1|NP_063938.1	Q9NR63	CP26B_HUMAN			6	1638	-			479		V -> I.			B2R8M7|B7Z2K6|B7Z2P4|B7Z3B8|E4W5W7|Q32MC0|Q53TW1|Q9NP41	Missense_Mutation	SNP	ENST00000001146.2	37	c.1435G>A	CCDS1919.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	9.723	1.160211	0.21454	0.0	1.16E-4	ENSG00000003137	ENST00000001146;ENST00000412253;ENST00000546307	T;T;T	0.68624	-0.34;-0.34;-0.34	5.64	3.77	0.43336	.	0.118844	0.56097	N	0.000028	T	0.44829	0.1312	N	0.16130	0.375	0.52099	D	0.999943	B;B;B	0.14438	0.01;0.005;0.003	B;B;B	0.15484	0.009;0.006;0.013	T	0.18618	-1.0331	10	0.15066	T	0.55	-1.2951	9.6914	0.40131	0.0:0.8206:0.0:0.1794	.	404;462;479	B7Z2K6;B7Z2P4;Q9NR63	.;.;CP26B_HUMAN	I	479;288;404	ENSP00000001146:V479I;ENSP00000401465:V288I;ENSP00000443304:V404I	ENSP00000001146:V479I	V	-	1	0	CYP26B1	72212968	0.996000	0.38824	0.929000	0.37066	0.995000	0.86356	3.328000	0.52052	0.780000	0.33566	0.655000	0.94253	GTC		0.642	CYP26B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251969.1	NM_019885		3	27	0	0	0	1	0	3	27					T	72359460	C	T	72359460	3	4	70	1	0	0	0	0	1	0	0	0	4156	536	19	1	107	1	CYP26B1	2	72359460	Missense_Mutation	SNP	C	TCGA-EJ-5524-01A-01D-1576-08		72359460	170839913	7	3621											
CNTNAP5	129684	broad.mit.edu	37	chr2	125660643	125660643	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcttcatggtggactcagaTgtgaatgcagtgaccacggt	9	10	14	8	1	2	3	2	2	0	1	2	4	2	4	1	4	1	2	1	4	1	1			TCGA-EJ-5524-01A-01D-1576-08	TCGA-EJ-5524-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb32ee2b-3ed2-4a8b-a7ed-89ef4bef7661	75bec014-53c0-49e0-88d8-fcd261d22ec1	g.chr2:125660643T>A	ENST00000431078.1	+	22	3982	c.3618T>A	c.(3616-3618)gaT>gaA	p.D1206E		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	1206					cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)		p.D1206E(2)		NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		TGGACTCAGATGTGAATGCAG	0.532																																						ENST00000431078.1																			2	Substitution - Missense(2)	p.D1206E(2)	prostate(2)	NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176						c.(3616-3618)gaT>gaA		contactin associated protein-like 5							57	57	57					2																	125660643		2104	4230	6334	SO:0001583	missense	129684				cell adhesion|signal transduction	integral to membrane	receptor binding	g.chr2:125660643T>A	AB077881	CCDS46401.1	2q14.1	2008-02-05			ENSG00000155052	ENSG00000155052			18748	protein-coding gene	gene with protein product		610519					Standard	NM_130773		Approved	caspr5, FLJ31966	uc002tno.3	Q8WYK1	OTTHUMG00000153356	ENST00000431078.1:c.3618T>A	2.37:g.125660643T>A	ENSP00000399013:p.Asp1206Glu						p.D1206E	NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.248)	22	3982	+			1206					Q4ZFW2|Q4ZG21|Q53R09|Q53RX1|Q53SG3|Q584P3|Q96MS7	Missense_Mutation	SNP	ENST00000431078.1	37	c.3618T>A	CCDS46401.1	.	.	.	.	.	.	.	.	.	.	T	13.35	2.209598	0.39003	.	.	ENSG00000155052	ENST00000431078	D	0.86865	-2.18	5.26	0.938	0.19500	.	0.252836	0.27064	N	0.021110	T	0.78355	0.4270	L	0.47016	1.485	0.23293	N	0.997965	P	0.46912	0.886	B	0.42738	0.396	T	0.67818	-0.5572	10	0.13108	T	0.6	.	5.2227	0.15377	0.1265:0.2978:0.0:0.5757	.	1206	Q8WYK1	CNTP5_HUMAN	E	1206	ENSP00000399013:D1206E	ENSP00000399013:D1206E	D	+	3	2	CNTNAP5	125377113	0.413000	0.25400	0.165000	0.22776	0.934000	0.57294	-0.250000	0.08830	0.211000	0.20683	0.459000	0.35465	GAT		0.532	CNTNAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330864.3			15	15	0	0	0	1	0	15	15					A	125660643	T	A	125660643	3	1	70	1	0	0	0	0	1	0	0	0	3650	1461	51	5	3704	5	CNTNAP5	2	125660643	Missense_Mutation	SNP	T	TCGA-EJ-5524-01A-01D-1576-08	53301183	125660643	117538730	8	3622											
LY75	4065	broad.mit.edu	37	chr2	160706545	160706545	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aatgggtgaaagttactgtaCgtcagctctctgttatctgt	9	15	10	7	1	3	1	1	1	2	0	4	1	3	1	0	1	3	4	0	1	5	3	rs114924959	byFrequency	TCGA-EJ-5524-01A-01D-1576-08	TCGA-EJ-5524-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb32ee2b-3ed2-4a8b-a7ed-89ef4bef7661	75bec014-53c0-49e0-88d8-fcd261d22ec1	g.chr2:160706545C>T	ENST00000263636.4	-	23	3123	c.3096G>A	c.(3094-3096)acG>acA	p.T1032T	LY75-CD302_ENST00000505052.1_Silent_p.T1032T|LY75_ENST00000554112.1_Silent_p.T1032T|LY75_ENST00000553424.1_Silent_p.T1032T|LY75-CD302_ENST00000504764.1_Silent_p.T1032T	NM_002349.3	NP_002340.2	O60449	LY75_HUMAN	lymphocyte antigen 75	1032	C-type lectin 6. {ECO:0000255|PROSITE- ProRule:PRU00040}.				endocytosis (GO:0006897)|immune response (GO:0006955)|inflammatory response (GO:0006954)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)	p.T1032T(1)		NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(22)|prostate(7)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	59				COAD - Colon adenocarcinoma(177;0.132)		AGTTACTGTACGTCAGCTCTC	0.383													C|||	4	0.000798722	0	0.0014	5008	,	,		17265	0		0.003	False		,,,				2504	0					ENST00000263636.4																			1	Substitution - coding silent(1)	p.T1032T(1)	prostate(1)	NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(22)|prostate(7)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	59						c.(3094-3096)acG>acA		lymphocyte antigen 75		C	,,	4,4402	8.1+/-20.4	0,4,2199	177	169	172		3096,3096,3096	-4.1	1	2	dbSNP_132	172	18,8582	13.3+/-46.6	0,18,4282	no	coding-synonymous,coding-synonymous,coding-synonymous	LY75,LY75-CD302	NM_001198759.1,NM_001198760.1,NM_002349.3	,,	0,22,6481	TT,TC,CC		0.2093,0.0908,0.1692	,,	1032/1874,1032/1818,1032/1723	160706545	22,12984	2203	4300	6503	SO:0001819	synonymous_variant	4065							g.chr2:160706545C>T	AF011333	CCDS2211.1	2q24	2011-08-30			ENSG00000054219	ENSG00000054219		"CD molecules", "C-type lectin domain containing"	6729	protein-coding gene	gene with protein product		604524				9553150	Standard	NM_002349		Approved	DEC-205, CLEC13B, CD205		O60449	OTTHUMG00000132025	ENST00000263636.4:c.3096G>A	2.37:g.160706545C>T						LY75-CD302_ENST00000504764.1_Silent_p.T1032T|LY75_ENST00000553424.1_Silent_p.T1032T|LY75-CD302_ENST00000505052.1_Silent_p.T1032T|LY75_ENST00000554112.1_Silent_p.T1032T	p.T1032T	NM_002349.3	NP_002340.2				COAD - Colon adenocarcinoma(177;0.132)	23	3123	-								O75913|Q53R46|Q53TF5|Q7Z575|Q7Z577	Silent	SNP	ENST00000263636.4	37	c.3096G>A	CCDS2211.1																																																																																				0.383	LY75-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000255035.1			20	274	0	0	0	1	0	20	274					T	160706545	C	T	160706545	2	4	70	1	0	0	0	0	0	0	0	1	9099	523	19	1		1	LY75	2	160706545	Silent	SNP	C	TCGA-EJ-5524-01A-01D-1576-08	35045902	160706545	82492828	9	3623											
CPS1	1373	broad.mit.edu	37	chr2	211421556	211421556	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caaaaatggaaattttcaagAcctggcatcaggctcctttc	13	11	7	10	0	2	1	2	0	0	1	4	2	3	2	2	3	0	2	2	3	4	3			TCGA-EJ-5524-01A-01D-1576-08	TCGA-EJ-5524-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb32ee2b-3ed2-4a8b-a7ed-89ef4bef7661	75bec014-53c0-49e0-88d8-fcd261d22ec1	g.chr2:211421556A>G	ENST00000233072.5	+	1	295	c.99A>G	c.(97-99)agA>agG	p.R33R	CPS1_ENST00000430249.2_Silent_p.R39R	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN	carbamoyl-phosphate synthase 1, mitochondrial	33					anion homeostasis (GO:0055081)|carbamoyl phosphate biosynthetic process (GO:0070409)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to cAMP (GO:0071320)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to glucagon stimulus (GO:0071377)|cellular response to oleic acid (GO:0071400)|citrulline biosynthetic process (GO:0019240)|glutamine catabolic process (GO:0006543)|glycogen catabolic process (GO:0005980)|hepatocyte differentiation (GO:0070365)|homocysteine metabolic process (GO:0050667)|midgut development (GO:0007494)|nitric oxide metabolic process (GO:0046209)|positive regulation of vasodilation (GO:0045909)|response to amine (GO:0014075)|response to amino acid (GO:0043200)|response to dexamethasone (GO:0071548)|response to drug (GO:0042493)|response to food (GO:0032094)|response to growth hormone (GO:0060416)|response to lipopolysaccharide (GO:0032496)|response to starvation (GO:0042594)|response to toxic substance (GO:0009636)|response to zinc ion (GO:0010043)|small molecule metabolic process (GO:0044281)|triglyceride catabolic process (GO:0019433)|urea cycle (GO:0000050)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|carbamoyl-phosphate synthase (ammonia) activity (GO:0004087)|endopeptidase activity (GO:0004175)|glutamate binding (GO:0016595)|modified amino acid binding (GO:0072341)|phospholipid binding (GO:0005543)	p.R33R(1)		breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)	Carglumic Acid(DB06775)	AATTTTCAAGACCTGGCATCA	0.403																																						ENST00000233072.5																			1	Substitution - coding silent(1)	p.R33R(1)	prostate(1)	breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142						c.(97-99)agA>agG		carbamoyl-phosphate synthase 1, mitochondrial							104	104	104					2																	211421556		2203	4299	6502	SO:0001819	synonymous_variant	1373				carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity	g.chr2:211421556A>G	AF154830	CCDS2393.1, CCDS46505.1, CCDS46506.1	2p	2014-09-17	2010-05-11		ENSG00000021826	ENSG00000021826	6.3.4.16		2323	protein-coding gene	gene with protein product		608307	"carbamoyl-phosphate synthetase 1, mitochondrial"				Standard	NM_001122633		Approved		uc002vee.4	P31327	OTTHUMG00000132994	ENST00000233072.5:c.99A>G	2.37:g.211421556A>G						CPS1_ENST00000430249.2_Silent_p.R39R	p.R33R	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN		Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)	1	295	+			33					B7Z818|J3KQL0|O43774|Q53TL5|Q59HF8|Q7Z5I5	Silent	SNP	ENST00000233072.5	37	c.99A>G	CCDS2393.1																																																																																				0.403	CPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256569.5			13	235	0	0	0	1	0	13	235					G	211421556	A	G	211421556	2	3	70	1	0	0	0	0	0	0	0	1	3823	272	10	4		4	CPS1	2	211421556	Silent	SNP	A	TCGA-EJ-5524-01A-01D-1576-08	50715011	211421556	31777817	10	3624											
ABCA12	26154	broad.mit.edu	37	chr2	215914419	215914419	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atgttagaaaggcaaaatttGttaaaaacatttcttcctag	16	14	6	5	0	1	1	0	0	1	1	2	1	2	1	1	1	1	3	1	1	8	6			TCGA-EJ-5524-01A-01D-1576-08	TCGA-EJ-5524-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb32ee2b-3ed2-4a8b-a7ed-89ef4bef7661	75bec014-53c0-49e0-88d8-fcd261d22ec1	g.chr2:215914419G>T	ENST00000272895.7	-	6	843	c.624C>A	c.(622-624)aaC>aaA	p.N208K		NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	208					cellular homeostasis (GO:0019725)|ceramide transport (GO:0035627)|establishment of skin barrier (GO:0061436)|keratinization (GO:0031424)|lipid homeostasis (GO:0055088)|lipid transport (GO:0006869)|lung alveolus development (GO:0048286)|phospholipid efflux (GO:0033700)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of protein localization to cell surface (GO:2000010)|protein localization to plasma membrane (GO:0072659)|regulated secretory pathway (GO:0045055)|secretion by cell (GO:0032940)|surfactant homeostasis (GO:0043129)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|epidermal lamellar body (GO:0097209)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)	apolipoprotein A-I receptor binding (GO:0034191)|ATP binding (GO:0005524)|lipid transporter activity (GO:0005319)|lipid-transporting ATPase activity (GO:0034040)|receptor binding (GO:0005102)	p.N208K(1)		NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		GGCAAAATTTGTTAAAAACAT	0.383																																					Ovarian(66;664 1488 5121 34295)	ENST00000272895.7																			1	Substitution - Missense(1)	p.N208K(1)	prostate(1)	NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139						c.(622-624)aaC>aaA		ATP-binding cassette, sub-family A (ABC1), member 12							84	83	83					2																	215914419		2203	4300	6503	SO:0001583	missense	26154				cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity	g.chr2:215914419G>T	AF418105	CCDS33372.1, CCDS33373.1	2q34	2012-03-14			ENSG00000144452	ENSG00000144452		"ATP binding cassette transporters / subfamily A"	14637	protein-coding gene	gene with protein product		607800	"ichthyosis congenita II, lamellar ichthyosis B"	ICR2B		11435397, 12915478, 8845852, 10094194	Standard	NM_015657		Approved	DKFZP434G232, LI2	uc002vew.3	Q86UK0	OTTHUMG00000154801	ENST00000272895.7:c.624C>A	2.37:g.215914419G>T	ENSP00000272895:p.Asn208Lys						p.N208K	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)	6	843	-		Renal(323;0.127)	208					Q53QE2|Q53S55|Q8IZW6|Q96JT3|Q9Y4M5	Missense_Mutation	SNP	ENST00000272895.7	37	c.624C>A	CCDS33372.1	.	.	.	.	.	.	.	.	.	.	G	0.184	-1.059470	0.01950	.	.	ENSG00000144452	ENST00000272895	D	0.87650	-2.28	6.05	3.33	0.38152	.	0.416026	0.25380	N	0.031094	T	0.73690	0.3619	N	0.19112	0.55	0.44149	D	0.996944	B	0.26318	0.146	B	0.19666	0.026	T	0.63107	-0.6711	10	0.33141	T	0.24	.	5.4346	0.16474	0.2339:0.1453:0.6208:0.0	.	208	Q86UK0	ABCAC_HUMAN	K	208	ENSP00000272895:N208K	ENSP00000272895:N208K	N	-	3	2	ABCA12	215622664	0.056000	0.20664	0.997000	0.53966	0.509000	0.34042	0.010000	0.13242	0.470000	0.27294	0.655000	0.94253	AAC		0.383	ABCA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337111.1	NM_173076		28	103	1	0	2.48779e-11	1	2.71396e-11	28	103					T	215914419	G	T	215914419	3	4	70	1	0	0	0	0	1	0	0	0	30	1368	48	5	7386	5	ABCA12	2	215914419	Missense_Mutation	SNP	G	TCGA-EJ-5524-01A-01D-1576-08	4492863	215914419	27284954	11	3625											
ARGFX	503582	broad.mit.edu	37	chr3	121303769	121303769	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atctctgccctgaagcaataCggagaaggcataaagaacgt	15	7	10	9	2	1	3	0	1	1	2	2	4	1	3	1	2	4	2	1	2	7	2	rs149102809		TCGA-EJ-5524-01A-01D-1576-08	TCGA-EJ-5524-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb32ee2b-3ed2-4a8b-a7ed-89ef4bef7661	75bec014-53c0-49e0-88d8-fcd261d22ec1	g.chr3:121303769C>T	ENST00000334384.3	+	3	236	c.226C>T	c.(226-228)Cgg>Tgg	p.R76W		NM_001012659.1	NP_001012677.1	A6NJG6	ARGFX_HUMAN	arginine-fifty homeobox	76					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)	p.R76W(1)		kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	15				GBM - Glioblastoma multiforme(114;0.152)		TGAAGCAATACGGAGAAGGCA	0.423																																						ENST00000334384.3																			1	Substitution - Missense(1)	p.R76W(1)	prostate(1)	kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	15						c.(226-228)Cgg>Tgg		arginine-fifty homeobox		C	TRP/ARG	0,4406		0,0,2203	192	177	182		226	-6.2	0	3	dbSNP_134	182	2,8598	2.2+/-6.3	0,2,4298	no	missense	ARGFX	NM_001012659.1	101	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	benign	76/316	121303769	2,13004	2203	4300	6503	SO:0001583	missense	503582					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr3:121303769C>T		CCDS33834.1	3q13.33	2011-06-20			ENSG00000186103	ENSG00000186103		"Homeoboxes / PRD class"	30146	protein-coding gene	gene with protein product		611164					Standard	XM_005247505		Approved		uc003eef.3	A6NJG6	OTTHUMG00000159395	ENST00000334384.3:c.226C>T	3.37:g.121303769C>T	ENSP00000335578:p.Arg76Trp						p.R76W	NM_001012659.1	NP_001012677.1	A6NJG6	ARGFX_HUMAN		GBM - Glioblastoma multiforme(114;0.152)	3	236	+			76						Missense_Mutation	SNP	ENST00000334384.3	37	c.226C>T	CCDS33834.1	.	.	.	.	.	.	.	.	.	.	C	6.996	0.553935	0.13374	0.0	2.33E-4	ENSG00000186103	ENST00000334384	T	0.14893	2.47	3.09	-6.18	0.02085	Homeodomain-related (1);Homeobox (1);Homeodomain-like (1);	2.922090	0.01465	N	0.016044	T	0.13586	0.0329	L	0.49455	1.56	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.24728	-1.0152	10	0.87932	D	0	15.9939	0.7736	0.01028	0.2997:0.3277:0.1521:0.2205	.	76	A6NJG6	ARGFX_HUMAN	W	76	ENSP00000335578:R76W	ENSP00000335578:R76W	R	+	1	2	ARGFX	122786459	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.810000	0.01729	-1.519000	0.01775	-1.192000	0.01694	CGG		0.423	ARGFX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355096.2	NM_001012659		111	338	0	0	0	1	0	111	338					T	121303769	C	T	121303769	3	4	70	1	0	0	0	0	1	0	0	0	859	527	19	1	236	1	ARGFX	3	121303769	Missense_Mutation	SNP	C	TCGA-EJ-5524-01A-01D-1576-08		121303769	76718661	12	3626											
HTT	3064	broad.mit.edu	37	chr4	3138037	3138037	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccagggtgcgacatgttgccGcagcatcactaattaggtat	10	10	11	10	2	1	0	1	0	0	0	1	1	1	0	2	2	3	4	2	2	3	4	rs369875192		TCGA-EJ-5524-01A-01D-1576-08	TCGA-EJ-5524-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb32ee2b-3ed2-4a8b-a7ed-89ef4bef7661	75bec014-53c0-49e0-88d8-fcd261d22ec1	g.chr4:3138037G>A	ENST00000355072.5	+	21	2927	c.2782G>A	c.(2782-2784)Gca>Aca	p.A928T		NM_002111.6	NP_002102	P42858	HD_HUMAN	huntingtin	928					anterior/posterior pattern specification (GO:0009952)|axon cargo transport (GO:0008088)|cell aging (GO:0007569)|citrulline metabolic process (GO:0000052)|determination of adult lifespan (GO:0008340)|dopamine receptor signaling pathway (GO:0007212)|endoplasmic reticulum organization (GO:0007029)|endosomal transport (GO:0016197)|ER to Golgi vesicle-mediated transport (GO:0006888)|establishment of mitotic spindle orientation (GO:0000132)|Golgi organization (GO:0007030)|grooming behavior (GO:0007625)|hormone metabolic process (GO:0042445)|insulin secretion (GO:0030073)|iron ion homeostasis (GO:0055072)|L-glutamate import (GO:0051938)|lactate biosynthetic process from pyruvate (GO:0019244)|locomotory behavior (GO:0007626)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of neuron apoptotic process (GO:0043524)|neural plate formation (GO:0021990)|neuron apoptotic process (GO:0051402)|neuron development (GO:0048666)|olfactory lobe development (GO:0021988)|organ development (GO:0048513)|paraxial mesoderm formation (GO:0048341)|positive regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031587)|protein import into nucleus (GO:0006606)|quinolinate biosynthetic process (GO:0019805)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of protein phosphatase type 2A activity (GO:0034047)|regulation of synaptic plasticity (GO:0048167)|response to calcium ion (GO:0051592)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|social behavior (GO:0035176)|spermatogenesis (GO:0007283)|striatum development (GO:0021756)|urea cycle (GO:0000050)|vesicle transport along microtubule (GO:0047496)|visual learning (GO:0008542)	autophagic vacuole (GO:0005776)|axon (GO:0030424)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|inclusion body (GO:0016234)|late endosome (GO:0005770)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein complex (GO:0043234)	beta-tubulin binding (GO:0048487)|diazepam binding (GO:0050809)|dynactin binding (GO:0034452)|dynein intermediate chain binding (GO:0045505)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|p53 binding (GO:0002039)|transcription factor binding (GO:0008134)	p.A928T(1)		breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		ACATGTTGCCGCAGCATCACT	0.378																																						ENST00000355072.5																			1	Substitution - Missense(1)	p.A928T(1)	prostate(1)	breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87						c.(2782-2784)Gca>Aca		huntingtin		G	THR/ALA	0,3748		0,0,1874	141	135	137		2782	5.7	0.2	4		137	1,8227		0,1,4113	no	missense	HTT	NM_002111.6	58	0,1,5987	AA,AG,GG		0.0122,0.0,0.0084	probably-damaging	928/3143	3138037	1,11975	1874	4114	5988	SO:0001583	missense	3064				establishment of mitotic spindle orientation|Golgi organization|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule	autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|Golgi apparatus|late endosome|membrane fraction|nucleus|protein complex	beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding	g.chr4:3138037G>A	L12392	CCDS43206.1	4p16.3	2014-09-17	2007-12-04	2007-12-04	ENSG00000197386	ENSG00000197386		"Endogenous ligands"	4851	protein-coding gene	gene with protein product		613004	"huntingtin (Huntington disease)"	HD		8458085	Standard	NM_002111		Approved	IT15	uc021xkv.1	P42858	OTTHUMG00000159916	ENST00000355072.5:c.2782G>A	4.37:g.3138037G>A	ENSP00000347184:p.Ala928Thr						p.A928T	NM_002111.6	NP_002102.4	P42858	HD_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)	21	2927	+		all_epithelial(65;0.18)	928					Q9UQB7	Missense_Mutation	SNP	ENST00000355072.5	37	c.2782G>A	CCDS43206.1	.	.	.	.	.	.	.	.	.	.	G	33	5.243531	0.95272	0.0	1.22E-4	ENSG00000197386	ENST00000355072	T	0.66815	-0.23	5.74	5.74	0.90152	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.75591	0.3870	L	0.31845	0.965	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	T	0.74169	-0.3752	10	0.42905	T	0.14	.	19.9351	0.97137	0.0:0.0:1.0:0.0	.	928	P42858	HD_HUMAN	T	928	ENSP00000347184:A928T	ENSP00000347184:A928T	A	+	1	0	HTT	3107835	1.000000	0.71417	0.170000	0.22879	0.616000	0.37450	6.620000	0.74224	2.703000	0.92315	0.655000	0.94253	GCA		0.378	HTT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358234.2	NM_002111		5	105	0	0	0	1	0	5	105					A	3138037	G	A	3138037	3	1	70	1	0	0	0	0	1	0	0	0	7457	1087	38	1	2864	1	HTT	4	3138037	Missense_Mutation	SNP	G	TCGA-EJ-5524-01A-01D-1576-08		3138037	188016239	13	3627											
WDFY3	23001	broad.mit.edu	37	chr4	85719250	85719250	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aatttaaaggacttgccaaaCgtaaaaactccctaagaaag	19	8	6	8	1	0	1	0	0	0	1	1	2	1	2	2	1	3	1	2	1	9	5			TCGA-EJ-5524-01A-01D-1576-08	TCGA-EJ-5524-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb32ee2b-3ed2-4a8b-a7ed-89ef4bef7661	75bec014-53c0-49e0-88d8-fcd261d22ec1	g.chr4:85719250C>T	ENST00000295888.4	-	18	3241	c.2834G>A	c.(2833-2835)cGt>cAt	p.R945H	WDFY3_ENST00000322366.6_Missense_Mutation_p.R945H	NM_014991.4	NP_055806.2	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	945					aggrephagy (GO:0035973)|positive regulation of macroautophagy (GO:0016239)	autophagic vacuole (GO:0005776)|cytoplasm (GO:0005737)|extrinsic component of membrane (GO:0019898)|inclusion body (GO:0016234)|nuclear envelope (GO:0005635)|PML body (GO:0016605)	1-phosphatidylinositol binding (GO:0005545)|beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity (GO:0003831)|metal ion binding (GO:0046872)	p.R945H(1)		breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		ACTTGCCAAACGTAAAAACTC	0.313																																						ENST00000322366.6																			1	Substitution - Missense(1)	p.R945H(1)	prostate(1)	breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						c.(2833-2835)cGt>cAt		WD repeat and FYVE domain containing 3							101	101	101					4																	85719250		2203	4300	6503	SO:0001583	missense	23001					cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding	g.chr4:85719250C>T	AB023210	CCDS3609.1	4q21.3	2013-01-09			ENSG00000163625	ENSG00000163625		"Zinc fingers, FYVE domain containing", "WD repeat domain containing"	20751	protein-coding gene	gene with protein product						10231032	Standard	NM_014991		Approved	KIAA0993, ALFY, ZFYVE25	uc003hpd.3	Q8IZQ1	OTTHUMG00000130424	ENST00000295888.4:c.2834G>A	4.37:g.85719250C>T	ENSP00000295888:p.Arg945His					WDFY3_ENST00000295888.4_Missense_Mutation_p.R945H	p.R945H			Q8IZQ1	WDFY3_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000808)	18	3241	-		Hepatocellular(203;0.114)	945					Q4W5K5|Q6P0Q5|Q8N1T2|Q8NAV6|Q96BS7|Q96D33|Q96N85|Q9Y2J7	Missense_Mutation	SNP	ENST00000295888.4	37	c.2834G>A	CCDS3609.1	.	.	.	.	.	.	.	.	.	.	C	32	5.114865	0.94339	.	.	ENSG00000163625	ENST00000322366;ENST00000295888	T;T	0.62105	0.05;0.05	5.49	5.49	0.81192	.	0.000000	0.85682	D	0.000000	T	0.78071	0.4226	M	0.73217	2.22	0.80722	D	1	D	0.76494	0.999	D	0.62955	0.909	T	0.79329	-0.1848	10	0.66056	D	0.02	.	19.7348	0.96198	0.0:1.0:0.0:0.0	.	945	Q8IZQ1	WDFY3_HUMAN	H	945	ENSP00000318466:R945H;ENSP00000295888:R945H	ENSP00000295888:R945H	R	-	2	0	WDFY3	85938274	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.442000	0.80503	2.716000	0.92895	0.655000	0.94253	CGT		0.313	WDFY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252811.2	NM_014991		60	145	0	0	0	1	0	60	145					T	85719250	C	T	85719250	3	4	70	1	0	0	0	0	1	0	0	0	17267	536	19	1	7950	1	WDFY3	4	85719250	Missense_Mutation	SNP	C	TCGA-EJ-5524-01A-01D-1576-08	82581213	85719250	105435026	14	3628											
CDH18	1016	broad.mit.edu	37	chr5	19483619	19483619	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aatacacatcctgaacagttCgactaaatctcctccgcctt	12	11	4	14	2	1	1	0	1	1	0	5	2	3	1	4	0	2	1	4	0	5	4			TCGA-EJ-5524-01A-01D-1576-08	TCGA-EJ-5524-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb32ee2b-3ed2-4a8b-a7ed-89ef4bef7661	75bec014-53c0-49e0-88d8-fcd261d22ec1	g.chr5:19483619C>T	ENST00000507958.1	-	14	2663	c.1673G>A	c.(1672-1674)cGa>cAa	p.R558Q	CDH18_ENST00000506372.1_Intron|CDH18_ENST00000382275.1_Missense_Mutation_p.R558Q|CDH18_ENST00000274170.4_Missense_Mutation_p.R558Q|CDH18_ENST00000502796.1_Intron			Q13634	CAD18_HUMAN	cadherin 18, type 2	558	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.R558L(2)|p.R558Q(2)		breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138	Lung NSC(1;0.00734)|all_lung(1;0.0197)					CTGAACAGTTCGACTAAATCT	0.458																																						ENST00000507958.1																			4	Substitution - Missense(4)	p.R558L(2)|p.R558Q(2)	prostate(2)|lung(2)	breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138						c.(1672-1674)cGa>cAa		cadherin 18, type 2							101	85	90					5																	19483619		2203	4300	6503	SO:0001583	missense	1016				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:19483619C>T	U59325	CCDS3889.1, CCDS54835.1, CCDS75229.1	5p14.3	2010-01-26			ENSG00000145526	ENSG00000145526		"Cadherins / Major cadherins"	1757	protein-coding gene	gene with protein product		603019				9030594, 10191097	Standard	NM_004934		Approved	CDH14, EY-CADHERIN	uc003jgd.3	Q13634	OTTHUMG00000090578	ENST00000507958.1:c.1673G>A	5.37:g.19483619C>T	ENSP00000425093:p.Arg558Gln					CDH18_ENST00000274170.4_Missense_Mutation_p.R558Q|CDH18_ENST00000502796.1_Intron|CDH18_ENST00000506372.1_Intron|CDH18_ENST00000382275.1_Missense_Mutation_p.R558Q	p.R558Q			Q13634	CAD18_HUMAN			14	2663	-	Lung NSC(1;0.00734)|all_lung(1;0.0197)		558			Cadherin 5.		A8K0I2|B4DHG6|Q8N5Z2	Missense_Mutation	SNP	ENST00000507958.1	37	c.1673G>A	CCDS3889.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.080210	0.76528	.	.	ENSG00000145526	ENST00000382275;ENST00000507958;ENST00000542864;ENST00000274170	T;T;T	0.59364	0.27;0.27;0.27	5.69	5.69	0.88448	Cadherin (4);Cadherin-like (1);	0.071240	0.64402	D	0.000020	T	0.64538	0.2607	M	0.85945	2.785	0.44899	D	0.997913	B	0.27166	0.17	B	0.26094	0.066	T	0.63075	-0.6718	9	.	.	.	.	18.3739	0.90428	0.0:1.0:0.0:0.0	.	558	Q13634	CAD18_HUMAN	Q	558	ENSP00000371710:R558Q;ENSP00000425093:R558Q;ENSP00000274170:R558Q	.	R	-	2	0	CDH18	19519376	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.628000	0.54259	2.696000	0.92011	0.655000	0.94253	CGA		0.458	CDH18-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366747.1	NM_004934		20	81	0	0	0	1	0	20	81					T	19483619	C	T	19483619	3	4	70	1	0	0	0	0	1	0	0	0	3103	884	31	2	707	2	CDH18	5	19483619	Missense_Mutation	SNP	C	TCGA-EJ-5524-01A-01D-1576-08		19483619	161431641	15	3629											
MICB	4277	broad.mit.edu	37	chr6	31477560	31477560	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccgtttccctcttctccagaGcttgtgagcctgcaggtcct	4	13	9	15	1	2	2	0	1	2	1	5	2	4	2	5	1	3	3	5	1	0	3			TCGA-EJ-5524-01A-01D-1576-08	TCGA-EJ-5524-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb32ee2b-3ed2-4a8b-a7ed-89ef4bef7661	75bec014-53c0-49e0-88d8-fcd261d22ec1	g.chr6:31477560G>T	ENST00000252229.6	+	6	1105	c.1026G>T	c.(1024-1026)gaG>gaT	p.E342D	MICB_ENST00000399150.3_Splice_Site_p.E299D|MICB_ENST00000538442.1_Splice_Site_p.E310D	NM_005931.3	NP_005922.2			MHC class I polypeptide-related sequence B									p.E342D(1)		NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)	13						CTTCTCCAGAGCTTGTGAGCC	0.522																																						ENST00000252229.6																			1	Substitution - Missense(1)	p.E342D(1)	prostate(1)	NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)	13						c.e6-1		MHC class I polypeptide-related sequence B							125	122	123					6																	31477560		1238	2576	3814	SO:0001630	splice_region_variant	4277				antigen processing and presentation|cytolysis|gamma-delta T cell activation|immune response|immune response-activating cell surface receptor signaling pathway|interspecies interaction between organisms|negative regulation of defense response to virus by host|response to heat|response to oxidative stress|response to retinoic acid	integral to plasma membrane|MHC class I protein complex	natural killer cell lectin-like receptor binding	g.chr6:31477560G>T		CCDS43449.1, CCDS75422.1, CCDS75423.1	6p21.3	2013-01-11			ENSG00000204516	ENSG00000204516		"Immunoglobulin superfamily / C1-set domain containing"	7091	protein-coding gene	gene with protein product		602436				8022771	Standard	NM_005931		Approved	PERB11.2	uc003ntn.4	Q29980	OTTHUMG00000031074	ENST00000252229.6:c.1025-1G>T	6.37:g.31477560G>T						MICB_ENST00000538442.1_Splice_Site_p.E310_splice|MICB_ENST00000399150.3_Splice_Site_p.E299_splice	p.E342_splice	NM_005931.3	NP_005922.2	Q29980	MICB_HUMAN			6	1105	+			342						Splice_Site	SNP	ENST00000252229.6	37	c.1024_splice	CCDS43449.1	.	.	.	.	.	.	.	.	.	.	N	11.39	1.625924	0.28889	.	.	ENSG00000204516	ENST00000538442;ENST00000399150;ENST00000252229	T;T;T	0.00949	5.51;5.56;5.62	1.11	-0.991	0.10235	.	.	.	.	.	T	0.00695	0.0023	L	0.32530	0.975	0.09310	N	1	D;D;D	0.64830	0.974;0.994;0.994	D;D;D	0.70716	0.969;0.97;0.97	T	0.51576	-0.8688	9	0.59425	D	0.04	.	1.8088	0.03086	0.2375:0.0:0.4389:0.3236	.	310;299;342	F5H7Q8;A2AC57;Q29980	.;.;MICB_HUMAN	D	310;299;342	ENSP00000442345:E310D;ENSP00000382103:E299D;ENSP00000252229:E342D	ENSP00000252229:E342D	E	+	3	2	MICB	31585539	0.000000	0.05858	0.001000	0.08648	0.026000	0.11368	-0.379000	0.07437	-0.390000	0.07774	0.313000	0.20887	GAG		0.522	MICB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076102.3	NM_005931	Missense_Mutation	30	136	1	0	7.01153e-11	1	7.51236e-11	30	136					T	31477560	G	T	31477560	5	4	70	1	0	0	0	0	0	0	1	0	9575	985	34	5	1048	5	MICB	6	31477560	Splice_Site	SNP	G	TCGA-EJ-5524-01A-01D-1576-08		31477560	139637507	16	3630											
TEAD3	7005	broad.mit.edu	37	chr6	35444194	35444194	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aggcagcagctgaggggagcGgggccaggggctcataacct	9	4	18	10	1	1	1	1	1	0	0	1	2	1	2	2	7	4	4	2	7	1	1			TCGA-EJ-5524-01A-01D-1576-08	TCGA-EJ-5524-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb32ee2b-3ed2-4a8b-a7ed-89ef4bef7661	75bec014-53c0-49e0-88d8-fcd261d22ec1	g.chr6:35444194G>A	ENST00000402886.3	-	7	584	c.431C>T	c.(430-432)cCg>cTg	p.P144L	TEAD3_ENST00000338863.7_Missense_Mutation_p.P204L			Q99594	TEAD3_HUMAN	TEA domain family member 3	204					female pregnancy (GO:0007565)|gene expression (GO:0010467)|hippo signaling (GO:0035329)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.P241L(1)|p.P204L(1)|p.P241Q(1)|p.P204Q(1)		central_nervous_system(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	10						TGAGGGGAGCGGGGCCAGGGG	0.607																																						ENST00000338863.7																			4	Substitution - Missense(4)	p.P241L(1)|p.P204L(1)|p.P241Q(1)|p.P204Q(1)	prostate(2)|lung(2)	central_nervous_system(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	10						c.(610-612)cCg>cTg		TEA domain family member 3							59	74	69					6																	35444194		2107	4220	6327	SO:0001583	missense	7005				female pregnancy|hippo signaling cascade		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr6:35444194G>A	X94439	CCDS47414.1	6p21.2	2008-07-28			ENSG00000007866	ENSG00000007866			11716	protein-coding gene	gene with protein product		603170		TEAD5		9889009, 9148898	Standard	NM_003214		Approved	TEF-5, ETFR-1	uc003oku.4	Q99594	OTTHUMG00000014571	ENST00000402886.3:c.431C>T	6.37:g.35444194G>A	ENSP00000384577:p.Pro144Leu					TEAD3_ENST00000402886.3_Missense_Mutation_p.P144L	p.P204L	NM_003214.3	NP_003205.2	Q99594	TEAD3_HUMAN			9	838	-			204			Pro-rich.|Transcriptional activation (Potential).		O95910|Q5BJG7|Q8N6Y4	Missense_Mutation	SNP	ENST00000402886.3	37	c.611C>T		.	.	.	.	.	.	.	.	.	.	G	15.81	2.943291	0.53079	.	.	ENSG00000007866	ENST00000338863;ENST00000402886;ENST00000373905;ENST00000433586	T;T;T	0.30182	1.54;1.54;1.54	4.84	4.84	0.62591	.	0.000000	0.85682	D	0.000000	T	0.35128	0.0921	L	0.42245	1.32	0.80722	D	1	D;B;D	0.89917	1.0;0.011;1.0	D;B;D	0.97110	1.0;0.008;1.0	T	0.07927	-1.0747	10	0.52906	T	0.07	-26.464	10.6763	0.45787	0.0871:0.0:0.9129:0.0	.	144;220;204	B5MCM0;Q7Z6V0;Q99594	.;.;TEAD3_HUMAN	L	204;144;220;115	ENSP00000345772:P204L;ENSP00000384577:P144L;ENSP00000416400:P115L	ENSP00000345772:P204L	P	-	2	0	TEAD3	35552172	1.000000	0.71417	0.998000	0.56505	0.977000	0.68977	6.161000	0.71868	2.514000	0.84764	0.561000	0.74099	CCG		0.607	TEAD3-005	NOVEL	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000316961.2			12	164	0	0	0	1	0	12	164					A	35444194	G	A	35444194	3	1	70	1	0	0	0	0	1	0	0	0	15737	1116	39	2	716	2	TEAD3	6	35444194	Missense_Mutation	SNP	G	TCGA-EJ-5524-01A-01D-1576-08	3966634	35444194	135670873	17	3631											
FAM83B	222584	broad.mit.edu	37	chr6	54735357	54735357	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atgtggaagctccaaatcttGacttaggctggccatatgtg	10	12	11	8	0	1	1	0	1	1	0	2	2	2	2	2	3	1	2	2	3	4	3			TCGA-EJ-5524-01A-01D-1576-08	TCGA-EJ-5524-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb32ee2b-3ed2-4a8b-a7ed-89ef4bef7661	75bec014-53c0-49e0-88d8-fcd261d22ec1	g.chr6:54735357G>A	ENST00000306858.7	+	2	429	c.313G>A	c.(313-315)Gac>Aac	p.D105N		NM_001010872.1	NP_001010872.1	Q5T0W9	FA83B_HUMAN	family with sequence similarity 83, member B	105								p.D105N(1)		autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71	Lung NSC(77;0.0178)|Renal(3;0.122)					TCCAAATCTTGACTTAGGCTG	0.463																																						ENST00000306858.7																			1	Substitution - Missense(1)	p.D105N(1)	prostate(1)	autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71						c.(313-315)Gac>Aac		family with sequence similarity 83, member B							110	111	111					6																	54735357		2203	4300	6503	SO:0001583	missense	222584							g.chr6:54735357G>A	AK055204	CCDS34479.1	6p12.1	2014-03-13	2006-03-23	2006-03-23	ENSG00000168143	ENSG00000168143			21357	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 143"	C6orf143		22886302	Standard	NM_001010872		Approved	FLJ30642	uc003pck.4	Q5T0W9	OTTHUMG00000014899	ENST00000306858.7:c.313G>A	6.37:g.54735357G>A	ENSP00000304078:p.Asp105Asn						p.D105N	NM_001010872.1	NP_001010872.1	Q5T0W9	FA83B_HUMAN			2	429	+	Lung NSC(77;0.0178)|Renal(3;0.122)		105					Q2M1P3|Q96DQ2	Missense_Mutation	SNP	ENST00000306858.7	37	c.313G>A	CCDS34479.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.043898	0.75732	.	.	ENSG00000168143	ENST00000306858	T	0.14516	2.5	5.66	5.66	0.87406	.	0.209958	0.48286	D	0.000184	T	0.36248	0.0960	M	0.84511	2.7	0.80722	D	1	D	0.63880	0.993	D	0.65323	0.934	T	0.22800	-1.0206	10	0.72032	D	0.01	-27.2773	20.0973	0.97856	0.0:0.0:1.0:0.0	.	105	Q5T0W9	FA83B_HUMAN	N	105	ENSP00000304078:D105N	ENSP00000304078:D105N	D	+	1	0	FAM83B	54843316	1.000000	0.71417	0.952000	0.39060	0.090000	0.18270	9.525000	0.98039	2.830000	0.97506	0.585000	0.79938	GAC		0.463	FAM83B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040994.1	XM_294139		114	216	0	0	0	1	0	114	216					A	54735357	G	A	54735357	3	1	70	1	0	0	0	0	1	0	0	0	5634	1290	45	3	315	3	FAM83B	6	54735357	Missense_Mutation	SNP	G	TCGA-EJ-5524-01A-01D-1576-08	19291163	54735357	116379710	18	3632											
COL21A1	81578	broad.mit.edu	37	chr6	56035897	56035897	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tcccctttcatcacgagctgCcactggaattcgtgttggac	7	12	9	13	2	2	0	2	0	0	0	4	3	3	2	3	2	2	2	3	2	1	3			TCGA-EJ-5524-01A-01D-1576-08	TCGA-EJ-5524-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb32ee2b-3ed2-4a8b-a7ed-89ef4bef7661	75bec014-53c0-49e0-88d8-fcd261d22ec1	g.chr6:56035897C>A	ENST00000244728.5	-	4	1067	c.670G>T	c.(670-672)Gca>Tca	p.A224S	COL21A1_ENST00000370819.1_Missense_Mutation_p.A224S|COL21A1_ENST00000535941.1_Missense_Mutation_p.A224S	NM_030820.3	NP_110447.2	Q96P44	COLA1_HUMAN	collagen, type XXI, alpha 1	224					extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)		p.A224S(2)		breast(1)|endometrium(1)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|prostate(2)	41	Lung NSC(77;0.0483)		LUSC - Lung squamous cell carcinoma(124;0.181)			TCACGAGCTGCCACTGGAATT	0.318																																						ENST00000244728.5																			2	Substitution - Missense(2)	p.A224S(2)	prostate(2)	breast(1)|endometrium(1)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|prostate(2)	41						c.(670-672)Gca>Tca		collagen, type XXI, alpha 1							85	79	80					6																	56035897		1833	4080	5913	SO:0001583	missense	0				cell adhesion	collagen|cytoplasm	structural molecule activity	g.chr6:56035897C>A	AF330693	CCDS55025.1	6p12.3-p11.2	2013-01-16			ENSG00000124749	ENSG00000124749		"Collagens"	17025	protein-coding gene	gene with protein product		610002				11566190	Standard	XR_241922		Approved		uc003pcs.3	Q96P44	OTTHUMG00000014907	ENST00000244728.5:c.670G>T	6.37:g.56035897C>A	ENSP00000244728:p.Ala224Ser					COL21A1_ENST00000370819.1_Missense_Mutation_p.A224S|COL21A1_ENST00000535941.1_Missense_Mutation_p.A224S	p.A224S	NM_030820.3	NP_110447.2	Q96P44	COLA1_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.181)		4	1067	-	Lung NSC(77;0.0483)		224					A6NIX5|B2R8J9|Q49A51|Q71RF4|Q8WXV8|Q9H0V3	Missense_Mutation	SNP	ENST00000244728.5	37	c.670G>T	CCDS55025.1	.	.	.	.	.	.	.	.	.	.	C	14.67	2.604364	0.46423	.	.	ENSG00000124749	ENST00000244728;ENST00000370819;ENST00000535941;ENST00000370811	D;D;D	0.88975	-2.45;-2.4;-2.45	4.17	4.17	0.49024	.	0.000000	0.50627	U	0.000105	D	0.90741	0.7094	L	0.53249	1.67	0.80722	D	1	D;D	0.69078	0.993;0.997	P;D	0.75020	0.775;0.985	D	0.89374	0.3677	10	0.32370	T	0.25	.	16.8146	0.85730	0.0:1.0:0.0:0.0	.	224;224	Q96P44-3;Q96P44	.;COLA1_HUMAN	S	224	ENSP00000244728:A224S;ENSP00000359855:A224S;ENSP00000444384:A224S	ENSP00000244728:A224S	A	-	1	0	COL21A1	56143856	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.631000	0.46502	2.024000	0.59613	0.585000	0.79938	GCA		0.318	COL21A1-001	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041004.2			36	92	1	0	7.53189e-24	1	8.86105e-24	36	92					A	56035897	C	A	56035897	3	1	70	1	0	0	0	0	1	0	0	0	3680	739	26	5	2311	5	COL21A1	6	56035897	Missense_Mutation	SNP	C	TCGA-EJ-5524-01A-01D-1576-08	1300540	56035897	115079170	19	3633											
TTYH3	80727	broad.mit.edu	37	chr7	2698620	2698620	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccgctgtgagaacaccccaCtcattgggcgcgagtccccg	7	6	11	17	4	1	1	1	1	0	1	2	3	2	1	5	1	1	1	5	1	1	1			TCGA-EJ-5524-01A-01D-1576-08	TCGA-EJ-5524-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb32ee2b-3ed2-4a8b-a7ed-89ef4bef7661	75bec014-53c0-49e0-88d8-fcd261d22ec1	g.chr7:2698620C>G	ENST00000258796.7	+	13	1676	c.1471C>G	c.(1471-1473)Ctc>Gtc	p.L491V	TTYH3_ENST00000403167.1_Missense_Mutation_p.L320V|TTYH3_ENST00000407643.1_Missense_Mutation_p.L459V	NM_025250.2	NP_079526.1	Q9C0H2	TTYH3_HUMAN	tweety family member 3	491					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	chloride channel complex (GO:0034707)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	chloride channel activity (GO:0005254)|intracellular calcium activated chloride channel activity (GO:0005229)	p.L491V(1)		kidney(1)|large_intestine(3)|lung(9)|prostate(2)|upper_aerodigestive_tract(2)	17		Ovarian(82;0.0112)		OV - Ovarian serous cystadenocarcinoma(56;2.04e-14)		GAACACCCCACTCATTGGGCG	0.647																																						ENST00000258796.7																			1	Substitution - Missense(1)	p.L491V(1)	prostate(1)	kidney(1)|large_intestine(3)|lung(9)|prostate(2)|upper_aerodigestive_tract(2)	17						c.(1471-1473)Ctc>Gtc		tweety family member 3							124	121	122					7																	2698620		2203	4300	6503	SO:0001583	missense	80727					chloride channel complex|plasma membrane	chloride channel activity	g.chr7:2698620C>G		CCDS34588.1	7p22	2013-09-02	2013-09-02		ENSG00000136295	ENSG00000136295			22222	protein-coding gene	gene with protein product		608919	"tweety homolog 3 (Drosophila)"				Standard	NM_025250		Approved	KIAA1691	uc003smp.3	Q9C0H2	OTTHUMG00000152050	ENST00000258796.7:c.1471C>G	7.37:g.2698620C>G	ENSP00000258796:p.Leu491Val					TTYH3_ENST00000407643.1_Missense_Mutation_p.L459V|TTYH3_ENST00000403167.1_Missense_Mutation_p.L320V	p.L491V	NM_025250.2	NP_079526.1	Q9C0H2	TTYH3_HUMAN		OV - Ovarian serous cystadenocarcinoma(56;2.04e-14)	13	1676	+		Ovarian(82;0.0112)	491					A4D201|B7WP98|Q6L749|Q6ZVG3|Q8TEG6	Missense_Mutation	SNP	ENST00000258796.7	37	c.1471C>G	CCDS34588.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.170929	0.78452	.	.	ENSG00000136295	ENST00000258796;ENST00000407643;ENST00000403167;ENST00000429448	T;T;T;T	0.58940	0.3;0.3;0.3;1.12	4.11	4.11	0.48088	.	0.000000	0.64402	U	0.000001	T	0.71634	0.3363	M	0.68317	2.08	0.51767	D	0.999938	D;D	0.89917	0.998;1.0	D;D	0.83275	0.996;0.994	T	0.74393	-0.3680	10	0.66056	D	0.02	.	11.3844	0.49776	0.0:0.9104:0.0:0.0896	.	320;491	Q9C0H2-3;Q9C0H2	.;TTYH3_HUMAN	V	491;459;320;151	ENSP00000258796:L491V;ENSP00000385316:L459V;ENSP00000385015:L320V;ENSP00000413757:L151V	ENSP00000258796:L491V	L	+	1	0	TTYH3	2665146	1.000000	0.71417	0.994000	0.49952	0.996000	0.88848	5.561000	0.67339	2.004000	0.58718	0.462000	0.41574	CTC		0.647	TTYH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325082.2	XM_166523		16	175	0	0	0	1	0	16	175					G	2698620	C	G	2698620	3	3	70	1	0	0	0	0	1	0	0	0	16738	565	20	5	1521	5	TTYH3	7	2698620	Missense_Mutation	SNP	C	TCGA-EJ-5524-01A-01D-1576-08		2698620	156440043	20	3634											
MLL3	58508	broad.mit.edu	37	chr7	151845693	151845693	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aggcaccagcctgagtctcaTagacctccgtggaccacaga	11	6	10	14	1	1	3	1	1	1	2	3	4	2	4	5	2	1	1	5	2	1	1			TCGA-EJ-5524-01A-01D-1576-08	TCGA-EJ-5524-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb32ee2b-3ed2-4a8b-a7ed-89ef4bef7661	75bec014-53c0-49e0-88d8-fcd261d22ec1	g.chr7:151845693T>C	ENST00000262189.6	-	52	13537	c.13319A>G	c.(13318-13320)tAt>tGt	p.Y4440C	KMT2C_ENST00000355193.2_Missense_Mutation_p.Y4497C	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	4440					histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.Y4497C(1)|p.Y4440C(1)									CTGAGTCTCATAGACCTCCGT	0.507																																						ENST00000355193.2																			2	Substitution - Missense(2)	p.Y4497C(1)|p.Y4440C(1)	prostate(2)								c.(13489-13491)tAt>tGt		lysine (K)-specific methyltransferase 2C							115	112	113					7																	151845693		2203	4300	6503	SO:0001583	missense	58508							g.chr7:151845693T>C	AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	13726	protein-coding gene	gene with protein product		606833	"myeloid/lymphoid or mixed-lineage leukemia 3"	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.13319A>G	7.37:g.151845693T>C	ENSP00000262189:p.Tyr4440Cys					KMT2C_ENST00000262189.6_Missense_Mutation_p.Y4440C	p.Y4497C							53	13708	-								Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Missense_Mutation	SNP	ENST00000262189.6	37	c.13490A>G	CCDS5931.1	.	.	.	.	.	.	.	.	.	.	T	15.93	2.977861	0.53720	.	.	ENSG00000055609	ENST00000262189;ENST00000355193;ENST00000424877	T;T;T	0.70986	-0.53;-0.53;-0.53	5.24	5.24	0.73138	.	0.000000	0.39407	U	0.001380	D	0.82508	0.5052	M	0.69358	2.11	0.80722	D	1	D;D;D	0.89917	0.988;1.0;1.0	D;D;D	0.91635	0.993;0.999;0.999	D	0.84097	0.0393	10	0.59425	D	0.04	.	15.4242	0.75038	0.0:0.0:0.0:1.0	.	4440;3558;4497	Q8NEZ4;Q8NEZ4-2;Q8NEZ4-3	MLL3_HUMAN;.;.	C	4440;4497;1057	ENSP00000262189:Y4440C;ENSP00000347325:Y4497C;ENSP00000410411:Y1057C	ENSP00000262189:Y4440C	Y	-	2	0	MLL3	151476626	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.997000	0.88414	2.103000	0.63969	0.455000	0.32223	TAT		0.507	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3			70	195	0	0	0	1	0	70	195					C	151845693	T	C	151845693	3	2	70	1	0	0	0	0	1	0	0	0	9622	1406	49	4	1448	4	MLL3	7	151845693	Missense_Mutation	SNP	T	TCGA-EJ-5524-01A-01D-1576-08	149147073	151845693	7292970	21	3635											
C9orf100	84904	broad.mit.edu	37	chr9	35662634	35662634	+	Missense_Mutation	SNP	G	G	T																															caggtgcagtggaggccgagGcttggccatgaggagcacat																										TCGA-EJ-5524-01A-01D-1576-08	TCGA-EJ-5524-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb32ee2b-3ed2-4a8b-a7ed-89ef4bef7661	75bec014-53c0-49e0-88d8-fcd261d22ec1	g.chr9:35662634G>T	ENST00000378387.3	-	7	895	c.778C>A	c.(778-780)Cct>Act	p.P260T	ARHGEF39_ENST00000343259.3_Intron|ARHGEF39_ENST00000378395.2_Missense_Mutation_p.P224T|ARHGEF39_ENST00000490970.1_5'UTR	NM_032818.2	NP_116207.2	Q8N4T4	ARG39_HUMAN	Rho guanine nucleotide exchange factor (GEF) 39	260	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				positive regulation of cell migration (GO:0030335)	plasma membrane (GO:0005886)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.P260T(1)									GGAGGCCGAGGCTTGGCCATG	0.632																																						ENST00000378387.3																			1	Substitution - Missense(1)	p.P260T(1)	prostate(1)								c.(778-780)Cct>Act		Rho guanine nucleotide exchange factor (GEF) 39							32	31	31					9																	35662634		2203	4300	6503	SO:0001583	missense	84904							g.chr9:35662634G>T	AK001187	CCDS6584.2	9p13.3	2012-08-08	2012-08-08	2012-08-08	ENSG00000137135	ENSG00000137135			25909	protein-coding gene	gene with protein product			"chromosome 9 open reading frame 100"	C9orf100		22327280	Standard	XR_242516		Approved	FLJ14642	uc003zxm.1	Q8N4T4	OTTHUMG00000019869	ENST00000378387.3:c.778C>A	9.37:g.35662634G>T	ENSP00000367638:p.Pro260Thr					ARHGEF39_ENST00000343259.3_Intron|ARHGEF39_ENST00000490970.1_5'UTR|ARHGEF39_ENST00000378395.2_Missense_Mutation_p.P224T	p.P260T	NM_032818.2	NP_116207.2					7	895	-								Q49AG0|Q6TPQ2|Q96ST6	Missense_Mutation	SNP	ENST00000378387.3	37	c.778C>A	CCDS6584.2	.	.	.	.	.	.	.	.	.	.	G	16.02	3.004241	0.54254	.	.	ENSG00000137135	ENST00000378387;ENST00000378395	T;T	0.41758	0.99;0.99	5.95	5.95	0.96441	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	0.053698	0.85682	D	0.000000	T	0.47525	0.1450	L	0.55481	1.735	0.80722	D	1	P	0.42785	0.79	P	0.45406	0.479	T	0.44112	-0.9349	10	0.59425	D	0.04	-7.3358	15.8855	0.79244	0.0:0.0:1.0:0.0	.	260	Q8N4T4	CI100_HUMAN	T	260;224	ENSP00000367638:P260T;ENSP00000367648:P224T	ENSP00000367638:P260T	P	-	1	0	C9orf100	35652634	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	6.695000	0.74593	2.825000	0.97269	0.655000	0.94253	CCT		0.632	ARHGEF39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052330.1	NM_032818		21	23	1	0	2.37509e-13	1	2.68878e-13	21	23					T	35662634	G	T	35662634	3	4	70	1	0	0	0	0	1	0	0	0	2444	1203	42	5	241	5	C9orf100	9	35662634	Missense_Mutation	SNP	G	TCGA-EJ-5524-01A-01D-1576-08		35662634	105550797	22	3636	21	2									
C9orf100	84904	broad.mit.edu	37	chr9	35662635	35662635	+	Silent	SNP	C	C	T																															aggtgcagtggaggccgaggCttggccatgaggagcacatc																										TCGA-EJ-5524-01A-01D-1576-08	TCGA-EJ-5524-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb32ee2b-3ed2-4a8b-a7ed-89ef4bef7661	75bec014-53c0-49e0-88d8-fcd261d22ec1	g.chr9:35662635C>T	ENST00000378387.3	-	7	894	c.777G>A	c.(775-777)aaG>aaA	p.K259K	ARHGEF39_ENST00000343259.3_Intron|ARHGEF39_ENST00000378395.2_Silent_p.K223K|ARHGEF39_ENST00000490970.1_5'UTR	NM_032818.2	NP_116207.2	Q8N4T4	ARG39_HUMAN	Rho guanine nucleotide exchange factor (GEF) 39	259	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				positive regulation of cell migration (GO:0030335)	plasma membrane (GO:0005886)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.K259K(1)									GAGGCCGAGGCTTGGCCATGA	0.632																																						ENST00000378387.3																			1	Substitution - coding silent(1)	p.K259K(1)	prostate(1)								c.(775-777)aaG>aaA		Rho guanine nucleotide exchange factor (GEF) 39							32	31	31					9																	35662635		2203	4300	6503	SO:0001819	synonymous_variant	84904							g.chr9:35662635C>T	AK001187	CCDS6584.2	9p13.3	2012-08-08	2012-08-08	2012-08-08	ENSG00000137135	ENSG00000137135			25909	protein-coding gene	gene with protein product			"chromosome 9 open reading frame 100"	C9orf100		22327280	Standard	XR_242516		Approved	FLJ14642	uc003zxm.1	Q8N4T4	OTTHUMG00000019869	ENST00000378387.3:c.777G>A	9.37:g.35662635C>T						ARHGEF39_ENST00000343259.3_Intron|ARHGEF39_ENST00000490970.1_5'UTR|ARHGEF39_ENST00000378395.2_Silent_p.K223K	p.K259K	NM_032818.2	NP_116207.2					7	894	-								Q49AG0|Q6TPQ2|Q96ST6	Silent	SNP	ENST00000378387.3	37	c.777G>A	CCDS6584.2																																																																																				0.632	ARHGEF39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052330.1	NM_032818		20	23	0	0	0	1	0	20	23					T	35662635	C	T	35662635	2	4	70	1	0	0	0	0	0	0	0	1	2444	796	28	3		3	C9orf100	9	35662635	Silent	SNP	C	TCGA-EJ-5524-01A-01D-1576-08	1	35662635	105550796	23	3637	21	2									
ROR2	4920	broad.mit.edu	37	chr9	94486051	94486051	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcctcctctgcttcctgcaCggtgctctgggccccatctt	2	13	8	18	1	3	0	0	0	3	0	6	0	6	0	5	2	3	3	5	2	0	2			TCGA-EJ-5524-01A-01D-1576-08	TCGA-EJ-5524-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb32ee2b-3ed2-4a8b-a7ed-89ef4bef7661	75bec014-53c0-49e0-88d8-fcd261d22ec1	g.chr9:94486051C>T	ENST00000375708.3	-	9	2923	c.2725G>A	c.(2725-2727)Gtg>Atg	p.V909M	ROR2_ENST00000550066.1_5'UTR|ROR2_ENST00000375715.1_Intron	NM_004560.3	NP_004551.2	Q01974	ROR2_HUMAN	receptor tyrosine kinase-like orphan receptor 2	909					cartilage condensation (GO:0001502)|cell differentiation (GO:0030154)|embryonic genitalia morphogenesis (GO:0030538)|inner ear morphogenesis (GO:0042472)|JNK cascade (GO:0007254)|multicellular organismal development (GO:0007275)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell migration (GO:0030335)|positive regulation of transcription, DNA-templated (GO:0045893)|signal transduction (GO:0007165)|somitogenesis (GO:0001756)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|Wnt signaling pathway, calcium modulating pathway (GO:0007223)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	clathrin-coated endocytic vesicle membrane (GO:0030669)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|Wnt-protein binding (GO:0017147)	p.V909M(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						GCTTCCTGCACGGTGCTCTGG	0.637																																						ENST00000375708.3																			1	Substitution - Missense(1)	p.V909M(1)	prostate(1)	autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						c.(2725-2727)Gtg>Atg		receptor tyrosine kinase-like orphan receptor 2							83	84	84					9																	94486051		2203	4300	6503	SO:0001583	missense	4920				negative regulation of cell proliferation|positive regulation of cell migration|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding	g.chr9:94486051C>T	M97639	CCDS6691.1	9q22	2013-01-11			ENSG00000169071	ENSG00000169071		"Immunoglobulin superfamily / I-set domain containing"	10257	protein-coding gene	gene with protein product		602337		NTRKR2, BDB, BDB1		1334494, 10700182	Standard	NM_004560		Approved		uc004arj.2	Q01974	OTTHUMG00000020211	ENST00000375708.3:c.2725G>A	9.37:g.94486051C>T	ENSP00000364860:p.Val909Met					ROR2_ENST00000550066.1_5'UTR|ROR2_ENST00000375715.1_Intron	p.V909M	NM_004560.3	NP_004551.2	Q01974	ROR2_HUMAN			9	2923	-			909					Q59GF5|Q5SPI5|Q9HAY7|Q9HB61	Missense_Mutation	SNP	ENST00000375708.3	37	c.2725G>A	CCDS6691.1	.	.	.	.	.	.	.	.	.	.	C	10.95	1.495711	0.26774	.	.	ENSG00000169071	ENST00000375708	T	0.78481	-1.18	4.75	4.75	0.60458	.	0.000000	0.38005	N	0.001857	T	0.70316	0.3210	N	0.08118	0	0.39472	D	0.967735	D	0.67145	0.996	P	0.51453	0.67	T	0.77453	-0.2582	10	0.51188	T	0.08	.	17.9502	0.89051	0.0:1.0:0.0:0.0	.	909	Q01974	ROR2_HUMAN	M	909	ENSP00000364860:V909M	ENSP00000364860:V909M	V	-	1	0	ROR2	93525872	1.000000	0.71417	0.997000	0.53966	0.020000	0.10135	4.545000	0.60698	2.466000	0.83321	0.561000	0.74099	GTG		0.637	ROR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053040.1			39	185	0	0	0	1	0	39	185					T	94486051	C	T	94486051	3	4	70	1	0	0	0	0	1	0	0	0	13527	536	19	1	110	1	ROR2	9	94486051	Missense_Mutation	SNP	C	TCGA-EJ-5524-01A-01D-1576-08	58823416	94486051	46727380	24	3638											
TTLL11	158135	broad.mit.edu	37	chr9	124752018	124752018	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcacgataaaagtgggcttcCaggaggggtcatcgtctttc	9	11	12	9	2	3	0	2	0	1	0	6	2	4	1	1	4	0	1	1	4	2	3			TCGA-EJ-5524-01A-01D-1576-08	TCGA-EJ-5524-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb32ee2b-3ed2-4a8b-a7ed-89ef4bef7661	75bec014-53c0-49e0-88d8-fcd261d22ec1	g.chr9:124752018C>A	ENST00000373776.3	-	4	1182	c.995G>T	c.(994-996)tGg>tTg	p.W332L	TTLL11_ENST00000321582.5_Missense_Mutation_p.W332L|TTLL11_ENST00000474723.1_5'UTR	NM_194252.2	NP_919228.2	Q8NHH1	TTL11_HUMAN	tubulin tyrosine ligase-like family, member 11	332	TTL. {ECO:0000255|PROSITE- ProRule:PRU00568}.				cellular protein modification process (GO:0006464)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	ligase activity (GO:0016874)	p.W332L(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(3)|skin(1)	18						AGTGGGCTTCCAGGAGGGGTC	0.512																																						ENST00000321582.5																			1	Substitution - Missense(1)	p.W332L(1)	prostate(1)	breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(3)|skin(1)	18						c.(994-996)tGg>tTg		tubulin tyrosine ligase-like family, member 11							108	118	114					9																	124752018		2199	4298	6497	SO:0001583	missense	158135				protein modification process	cilium|microtubule basal body	tubulin-tyrosine ligase activity	g.chr9:124752018C>A	AF521886	CCDS6834.2, CCDS48012.1	9q34.11	2013-02-14	2005-07-28	2005-07-28	ENSG00000175764	ENSG00000175764		"Tubulin tyrosine ligase-like family"	18113	protein-coding gene	gene with protein product			"chromosome 9 open reading frame 20"	C9orf20		15890843	Standard	NM_001139442		Approved	bA244O19.1	uc011lyl.2	Q8NHH1	OTTHUMG00000020597	ENST00000373776.3:c.995G>T	9.37:g.124752018C>A	ENSP00000362881:p.Trp332Leu					TTLL11_ENST00000474723.1_5'UTR|TTLL11_ENST00000373776.3_Missense_Mutation_p.W332L	p.W332L	NM_001139442.1	NP_001132914.1	Q8NHH1	TTL11_HUMAN			4	1182	-			332			TTL.			Missense_Mutation	SNP	ENST00000373776.3	37	c.995G>T	CCDS6834.2	.	.	.	.	.	.	.	.	.	.	C	13.53	2.264390	0.39995	.	.	ENSG00000175764	ENST00000321582;ENST00000373776	T;T	0.06068	3.49;3.35	4.89	4.89	0.63831	.	0.232836	0.23237	U	0.050391	T	0.05547	0.0146	N	0.17800	0.525	0.48696	D	0.999691	B;B	0.17852	0.014;0.024	B;B	0.24155	0.014;0.051	T	0.37126	-0.9719	10	0.10377	T	0.69	.	17.1382	0.86745	0.0:1.0:0.0:0.0	.	332;332	F8W6M1;Q8NHH1	.;TTL11_HUMAN	L	332	ENSP00000321346:W332L;ENSP00000362881:W332L	ENSP00000321346:W332L	W	-	2	0	TTLL11	123791839	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	3.748000	0.55142	2.283000	0.76528	0.549000	0.68633	TGG		0.512	TTLL11-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000053907.1	XM_088486		66	240	1	0	4.60868e-44	1	5.53042e-44	66	240					A	124752018	C	A	124752018	3	1	70	1	0	0	0	0	1	0	0	0	16721	595	21	5	1509	5	TTLL11	9	124752018	Missense_Mutation	SNP	C	TCGA-EJ-5524-01A-01D-1576-08	30265967	124752018	16461413	25	3639											
PLAU	414236	broad.mit.edu	37	chr10	75673298	75673298	+	Intron	DEL	A	A	-																															ccctctgtttgtcctccaggAaaaaagccctcctctcctcc																										TCGA-EJ-5524-01A-01D-1576-08	TCGA-EJ-5524-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb32ee2b-3ed2-4a8b-a7ed-89ef4bef7661	75bec014-53c0-49e0-88d8-fcd261d22ec1	g.chr10:75673298delA	ENST00000409178.1	-	3	268				PLAU_ENST00000372762.4_Splice_Site_p.G118fs|PLAU_ENST00000494287.1_3'UTR|PLAU_ENST00000446342.1_Splice_Site_p.G137fs|C10orf55_ENST00000412307.2_Intron|PLAU_ENST00000372764.3_Splice_Site_p.G154fs	NM_001001791.2	NP_001001791.2	Q5SWW7	CJ055_HUMAN	chromosome 10 open reading frame 55											endometrium(1)	1	Prostate(51;0.0112)					GTCCTCCAGGAAAAAAGCCCT	0.517																																						ENST00000446342.1																			0				cervix(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(3)|ovary(2)	16						c.e6-1		plasminogen activator, urokinase	Amiloride(DB00594)|Urokinase(DB00013)						156	188	177					10																	75673298		2203	4300	6503	SO:0001627	intron_variant	5328				blood coagulation|chemotaxis|fibrinolysis|proteolysis|regulation of cell adhesion mediated by integrin|regulation of receptor activity|regulation of smooth muscle cell migration|regulation of smooth muscle cell-matrix adhesion|signal transduction	cell surface|extracellular space|plasma membrane	serine-type endopeptidase activity	g.chr10:75673298delA		CCDS53541.1	10q22.2	2012-05-24			ENSG00000222047	ENSG00000222047			31008	protein-coding gene	gene with protein product							Standard	NM_001001791		Approved	bA417O11.3	uc001jvz.2	Q5SWW7	OTTHUMG00000018496	ENST00000409178.1:c.73-465T>-	10.37:g.75673298delA						PLAU_ENST00000372764.3_Splice_Site_p.G154_splice|PLAU_ENST00000372762.4_Splice_Site_p.G118_splice|C10orf55_ENST00000409178.1_Intron|C10orf55_ENST00000412307.2_Intron|PLAU_ENST00000494287.1_3'UTR	p.G137_splice	NM_001145031.1	NP_001138503.1	P00749	UROK_HUMAN			6	893	+	Prostate(51;0.0112)		154			Kringle.		Q3KRG4|Q8NAK4	Splice_Site	DEL	ENST00000409178.1	37	c.409_splice	CCDS53541.1																																																																																				0.517	C10orf55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048746.1	NM_001001791		7	790						7	790	---	---	---	---	-	75673298	A	-	75673298	6	5	70	0	1	1	0	1	0	0	0	0	12022	260	9	0		0	PLAU	10	75673298	Intron	DEL	A	TCGA-EJ-5524-01A-01D-1576-08		75673298	59861449	26	3640											
MKI67	4288	broad.mit.edu	37	chr10	129900972	129900972	+	Silent	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cttctcttcatgatgaccacGggttcggatgatttgcctct	6	15	9	11	2	3	3	1	3	2	0	5	4	3	4	2	2	1	1	2	2	0	4			TCGA-EJ-5524-01A-01D-1576-08	TCGA-EJ-5524-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb32ee2b-3ed2-4a8b-a7ed-89ef4bef7661	75bec014-53c0-49e0-88d8-fcd261d22ec1	g.chr10:129900972G>C	ENST00000368654.3	-	13	9507	c.9132C>G	c.(9130-9132)ccC>ccG	p.P3044P	MKI67_ENST00000368653.3_Silent_p.P2684P	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	3044					cell proliferation (GO:0008283)|cellular response to heat (GO:0034605)|DNA metabolic process (GO:0006259)|hyaluronan metabolic process (GO:0030212)|meiotic nuclear division (GO:0007126)|organ regeneration (GO:0031100)|response to organic cyclic compound (GO:0014070)	chromosome, centromeric region (GO:0000775)|condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)	p.P3044P(1)		NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				TGATGACCACGGGTTCGGATG	0.517																																						ENST00000368654.3																			1	Substitution - coding silent(1)	p.P3044P(1)	prostate(1)	NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159						c.(9130-9132)ccC>ccG		marker of proliferation Ki-67							156	148	151					10																	129900972		2203	4300	6503	SO:0001819	synonymous_variant	4288				cell proliferation	nucleolus	ATP binding|protein C-terminus binding	g.chr10:129900972G>C	X65550	CCDS7659.1, CCDS53588.1	10q26.2	2014-06-12	2013-10-10		ENSG00000148773	ENSG00000148773			7107	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 105"	176741	"antigen identified by monoclonal antibody Ki-67"			2571566, 16206250	Standard	NM_002417		Approved	MIB-, PPP1R105	uc001lke.3	P46013	OTTHUMG00000019255	ENST00000368654.3:c.9132C>G	10.37:g.129900972G>C						MKI67_ENST00000368653.3_Silent_p.P2684P	p.P3044P	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN			13	9507	-		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)	3044					Q5VWH2	Silent	SNP	ENST00000368654.3	37	c.9132C>G	CCDS7659.1																																																																																				0.517	MKI67-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050999.1	NM_002417		10	296	0	0	0	1	0	10	296					C	129900972	G	C	129900972	2	2	70	1	0	0	0	0	0	0	0	1	9598	1103	39	5		5	MKI67	10	129900972	Silent	SNP	G	TCGA-EJ-5524-01A-01D-1576-08	54227674	129900972	5633775	27	3641											
SSSCA1	10534	broad.mit.edu	37	chr11	65339161	65339161	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agctgtgtggccttatccgcGcatgtgcggaggccctgcgc	4	9	15	13	4	0	0	0	0	0	0	1	1	1	1	3	3	3	2	3	3	1	1			TCGA-EJ-5524-01A-01D-1576-08	TCGA-EJ-5524-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb32ee2b-3ed2-4a8b-a7ed-89ef4bef7661	75bec014-53c0-49e0-88d8-fcd261d22ec1	g.chr11:65339161G>A	ENST00000309328.3	+	4	618	c.556G>A	c.(556-558)Gca>Aca	p.A186T	FAM89B_ENST00000530349.1_5'Flank|FAM89B_ENST00000449319.2_5'Flank|SSSCA1_ENST00000526877.1_3'UTR|SSSCA1_ENST00000531405.1_Missense_Mutation_p.A149T|FAM89B_ENST00000316409.2_5'Flank|SSSCA1_ENST00000527920.1_Intron|SSSCA1-AS1_ENST00000567594.1_RNA	NM_006396.1	NP_006387.1	O60232	SSA27_HUMAN	Sjogren syndrome/scleroderma autoantigen 1	186					mitotic nuclear division (GO:0007067)			p.A186T(1)		kidney(1)|lung(4)|ovary(1)|prostate(1)|skin(1)	8						CCTTATCCGCGCATGTGCGGA	0.572																																						ENST00000531405.1																			1	Substitution - Missense(1)	p.A186T(1)	prostate(1)	kidney(1)|lung(4)|ovary(1)|prostate(1)|skin(1)	8						c.(445-447)Gca>Aca		Sjogren syndrome/scleroderma autoantigen 1							40	33	35					11																	65339161		2200	4297	6497	SO:0001583	missense	10534				cell division|mitosis		protein binding	g.chr11:65339161G>A	AB001740	CCDS8104.1	11q13.1	2007-10-04	2007-10-04			ENSG00000173465			11328	protein-coding gene	gene with protein product		606044	"Sjogren's syndrome/scleroderma autoantigen 1"			9486406	Standard	NM_006396		Approved	p27	uc001oek.3	O60232		ENST00000309328.3:c.556G>A	11.37:g.65339161G>A	ENSP00000312318:p.Ala186Thr					SSSCA1_ENST00000527920.1_Intron|SSSCA1_ENST00000309328.3_Missense_Mutation_p.A186T|SSSCA1_ENST00000526877.1_3'UTR	p.A149T			O60232	SSA27_HUMAN			3	681	+			186						Missense_Mutation	SNP	ENST00000309328.3	37	c.445G>A	CCDS8104.1	.	.	.	.	.	.	.	.	.	.	G	14.51	2.558133	0.45590	.	.	ENSG00000173465	ENST00000309328;ENST00000531405;ENST00000533115	T;T	0.46451	0.87;0.87	4.35	4.35	0.52113	.	0.268530	0.38837	N	0.001542	T	0.27063	0.0663	L	0.29908	0.895	0.80722	D	1	B	0.31209	0.313	B	0.17722	0.019	T	0.11372	-1.0590	10	0.49607	T	0.09	-7.3685	9.6184	0.39706	0.0:0.0:0.7917:0.2083	.	186	O60232	SSA27_HUMAN	T	186;149;180	ENSP00000312318:A186T;ENSP00000435432:A180T	ENSP00000312318:A186T	A	+	1	0	SSSCA1	65095737	1.000000	0.71417	0.999000	0.59377	0.960000	0.62799	2.453000	0.44970	2.266000	0.75297	0.561000	0.74099	GCA		0.572	SSSCA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389511.1	NM_006396		3	48	0	0	0	1	0	3	48					A	65339161	G	A	65339161	3	1	70	1	0	0	0	0	1	0	0	0	15194	1087	38	1	570	1	SSSCA1	11	65339161	Missense_Mutation	SNP	G	TCGA-EJ-5524-01A-01D-1576-08		65339161	69667355	28	3642											
EED	8726	broad.mit.edu	37	chr11	85968564	85968564	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aaatttattgtagcactatgTtggccatggaaatgctatca	13	14	8	6	0	1	0	1	0	0	0	1	1	1	1	1	2	2	4	1	2	6	7			TCGA-EJ-5524-01A-01D-1576-08	TCGA-EJ-5524-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb32ee2b-3ed2-4a8b-a7ed-89ef4bef7661	75bec014-53c0-49e0-88d8-fcd261d22ec1	g.chr11:85968564T>G	ENST00000263360.6	+	6	1246	c.560T>G	c.(559-561)gTt>gGt	p.V187G	EED_ENST00000528180.1_Missense_Mutation_p.V187G|EED_ENST00000351625.6_Missense_Mutation_p.V187G|EED_ENST00000327320.4_Missense_Mutation_p.V187G	NM_003797.3	NP_003788.2	O75530	EED_HUMAN	embryonic ectoderm development	187	Interaction with EZH2. {ECO:0000250}.|Required for interaction with the matrix protein MA of HIV-1.				negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of histone H3-K27 methylation (GO:0061087)|regulation of gene expression by genetic imprinting (GO:0006349)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|ESC/E(Z) complex (GO:0035098)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|pronucleus (GO:0045120)|sex chromatin (GO:0001739)	chromatin binding (GO:0003682)|histone methyltransferase activity (GO:0042054)|identical protein binding (GO:0042802)	p.V187G(1)		haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	21		Acute lymphoblastic leukemia(157;7.24e-07)|all_hematologic(158;0.00092)				TAGCACTATGTTGGCCATGGA	0.303																																						ENST00000263360.6																			1	Substitution - Missense(1)	p.V187G(1)	prostate(1)	haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	21						c.(559-561)gTt>gGt		embryonic ectoderm development							86	79	81					11																	85968564		2202	4299	6501	SO:0001583	missense	8726				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex	histone methyltransferase activity|identical protein binding	g.chr11:85968564T>G	AF078933	CCDS8273.1, CCDS8274.1	11q14.2-q22.3	2013-01-10			ENSG00000074266	ENSG00000074266		"WD repeat domain containing"	3188	protein-coding gene	gene with protein product	"WD protein associating with integrin cytoplasmic tails 1"	605984				9765275, 9806832	Standard	NM_003797		Approved	WAIT-1, HEED	uc001pbp.3	O75530	OTTHUMG00000167209	ENST00000263360.6:c.560T>G	11.37:g.85968564T>G	ENSP00000263360:p.Val187Gly					EED_ENST00000528180.1_Missense_Mutation_p.V187G|EED_ENST00000351625.6_Missense_Mutation_p.V187G|EED_ENST00000327320.4_Missense_Mutation_p.V187G	p.V187G	NM_003797.3	NP_003788.2	O75530	EED_HUMAN			6	1246	+		Acute lymphoblastic leukemia(157;7.24e-07)|all_hematologic(158;0.00092)	187			Interaction with EZH2 (By similarity).|Required for interaction with the matrix protein MA of HIV-1.		A8K7V5|O00149|Q6NTH2|Q7LDA5|Q7LDG8|Q86VV2|Q9UNY7	Missense_Mutation	SNP	ENST00000263360.6	37	c.560T>G	CCDS8273.1	.	.	.	.	.	.	.	.	.	.	T	18.21	3.573196	0.65765	.	.	ENSG00000074266	ENST00000263360;ENST00000528180;ENST00000351625;ENST00000327320	T;T;T;T	0.28666	1.6;1.6;1.6;1.6	5.31	5.31	0.75309	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.48750	0.1517	L	0.56199	1.76	0.80722	D	1	P;P;D;P	0.63046	0.8;0.92;0.992;0.69	P;P;D;P	0.65010	0.618;0.723;0.931;0.666	T	0.40194	-0.9576	9	.	.	.	-18.1676	15.5428	0.76070	0.0:0.0:0.0:1.0	.	187;187;187;187	O75530-3;E9PJK2;O75530-2;O75530	.;.;.;EED_HUMAN	G	187	ENSP00000263360:V187G;ENSP00000431778:V187G;ENSP00000338186:V187G;ENSP00000315587:V187G	.	V	+	2	0	EED	85646212	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.693000	0.84214	2.136000	0.66102	0.533000	0.62120	GTT		0.303	EED-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393733.1	NM_003797		4	90	0	0	0	1	0	4	90					G	85968564	T	G	85968564	3	3	70	1	0	0	0	0	1	0	0	0	4922	1725	60	5	582	5	EED	11	85968564	Missense_Mutation	SNP	T	TCGA-EJ-5524-01A-01D-1576-08	20629403	85968564	49037952	29	3643											
C12orf77	196415	broad.mit.edu	37	chr12	25148935	25148935	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atccatcgtatgctgtccagCgtctgcacgttcccttgttt	5	15	8	13	3	1	0	0	0	1	0	5	0	4	0	3	0	3	5	3	0	1	4			TCGA-EJ-5524-01A-01D-1576-08	TCGA-EJ-5524-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb32ee2b-3ed2-4a8b-a7ed-89ef4bef7661	75bec014-53c0-49e0-88d8-fcd261d22ec1	g.chr12:25148935C>T	ENST00000549828.1	-	3	417	c.213G>A	c.(211-213)acG>acA	p.T71T	C12orf77_ENST00000549262.1_Silent_p.T16T|C12orf77_ENST00000434912.3_Silent_p.T16T	NM_001101339.1	NP_001094809.1	C9JDV5	CL097_HUMAN	chromosome 12 open reading frame 77	71								p.T71T(2)		endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)	7						TGCTGTCCAGCGTCTGCACGT	0.478																																						ENST00000549828.1																			2	Substitution - coding silent(2)	p.T71T(2)	large_intestine(1)|prostate(1)	endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)	7						c.(211-213)acG>acA		chromosome 12 open reading frame 77							87	89	89					12																	25148935		1964	4159	6123	SO:0001819	synonymous_variant	196415							g.chr12:25148935C>T	BC046192	CCDS44846.1	12p12.1	2009-09-30			ENSG00000226397	ENSG00000226397			27282	protein-coding gene	gene with protein product						12477932	Standard	NM_001101339		Approved		uc001rgf.3	C9JDV5	OTTHUMG00000170185	ENST00000549828.1:c.213G>A	12.37:g.25148935C>T						C12orf77_ENST00000434912.3_Silent_p.T16T|C12orf77_ENST00000549262.1_Silent_p.T16T	p.T71T	NM_001101339.1	NP_001094809.1	C9JDV5	CL097_HUMAN			3	417	-			71						Silent	SNP	ENST00000549828.1	37	c.213G>A	CCDS44846.1																																																																																				0.478	C12orf77-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407827.1	NM_001101339		29	55	0	0	0	1	0	29	55					T	25148935	C	T	25148935	2	4	70	1	0	0	0	0	0	0	0	1	1716	755	27	1		1	C12orf77	12	25148935	Silent	SNP	C	TCGA-EJ-5524-01A-01D-1576-08		25148935	108702960	30	3644											
PKP2	5318	broad.mit.edu	37	chr12	32975445	32975445	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccaaaacatccaatactttTgttgttgtcagtctggatat	11	15	7	8	0	2	0	1	0	1	0	3	1	3	1	2	1	2	2	2	1	5	6			TCGA-EJ-5524-01A-01D-1576-08	TCGA-EJ-5524-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb32ee2b-3ed2-4a8b-a7ed-89ef4bef7661	75bec014-53c0-49e0-88d8-fcd261d22ec1	g.chr12:32975445T>C	ENST00000070846.6	-	9	1951	c.1927A>G	c.(1927-1929)Aaa>Gaa	p.K643E	PKP2_ENST00000340811.4_Missense_Mutation_p.K599E	NM_004572.3	NP_004563.2	Q99959	PKP2_HUMAN	plakophilin 2	643					adherens junction maintenance (GO:0034334)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cardiac muscle cell action potential (GO:0086001)|cardiac muscle cell action potential involved in contraction (GO:0086002)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cell-cell signaling involved in cardiac conduction (GO:0086019)|desmosome assembly (GO:0002159)|gap junction assembly (GO:0016264)|heart development (GO:0007507)|intermediate filament bundle assembly (GO:0045110)|lipid homeostasis (GO:0055088)|maintenance of organ identity (GO:0048496)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|positive regulation of sodium ion transport (GO:0010765)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of tight junction assembly (GO:2000810)|single organismal cell-cell adhesion (GO:0016337)|ventricular cardiac muscle cell action potential (GO:0086005)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	adherens junction (GO:0005912)|cell junction (GO:0030054)|cell-cell junction (GO:0005911)|desmosome (GO:0030057)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|intermediate filament (GO:0005882)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	intermediate filament binding (GO:0019215)|ion channel binding (GO:0044325)|protein complex scaffold (GO:0032947)|protein kinase C binding (GO:0005080)|sodium channel regulator activity (GO:0017080)	p.K643E(1)		NS(1)|breast(2)|endometrium(1)|kidney(9)|large_intestine(8)|lung(21)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	50	Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)					CCAATACTTTTGTTGTTGTCA	0.403																																						ENST00000340811.4																			1	Substitution - Missense(1)	p.K643E(1)	prostate(1)	NS(1)|breast(2)|endometrium(1)|kidney(9)|large_intestine(8)|lung(21)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	50						c.(1795-1797)Aaa>Gaa		plakophilin 2							128	121	123					12																	32975445		2203	4300	6503	SO:0001583	missense	5318				cell-cell adhesion	desmosome|integral to membrane|nucleus	binding	g.chr12:32975445T>C	X97675	CCDS8731.1, CCDS31771.1	12p11	2014-09-17				ENSG00000057294		"Armadillo repeat containing"	9024	protein-coding gene	gene with protein product		602861				8922383	Standard	NM_001005242		Approved		uc001rlj.4	Q99959	OTTHUMG00000169500	ENST00000070846.6:c.1927A>G	12.37:g.32975445T>C	ENSP00000070846:p.Lys643Glu					PKP2_ENST00000070846.6_Missense_Mutation_p.K643E	p.K599E	NM_001005242.2	NP_001005242.2	Q99959	PKP2_HUMAN			8	1903	-	Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)		643					A0AV37|B8QFA1|B8QGS6|B8QGS7|D3DUW9|Q4VC01|Q99960	Missense_Mutation	SNP	ENST00000070846.6	37	c.1795A>G	CCDS8731.1	.	.	.	.	.	.	.	.	.	.	T	10.63	1.403312	0.25291	.	.	ENSG00000057294	ENST00000340811;ENST00000070846;ENST00000537278	T;T	0.74947	-0.89;-0.89	5.05	5.05	0.67936	Armadillo-like helical (1);Armadillo-type fold (1);	0.407398	0.26244	N	0.025493	T	0.61850	0.2380	L	0.33485	1.01	0.33762	D	0.622018	B;B;B	0.17268	0.006;0.004;0.021	B;B;B	0.15052	0.01;0.004;0.012	T	0.63139	-0.6704	10	0.12103	T	0.63	-11.5073	13.3952	0.60849	0.0:0.0:0.0:1.0	.	599;599;643	Q99959-2;A0AV37;Q99959	.;.;PKP2_HUMAN	E	599;643;643	ENSP00000342800:K599E;ENSP00000070846:K643E	ENSP00000070846:K643E	K	-	1	0	PKP2	32866712	1.000000	0.71417	0.991000	0.47740	0.911000	0.54048	2.490000	0.45294	1.888000	0.54679	0.460000	0.39030	AAA		0.403	PKP2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000404449.1	NM_004572		11	125	0	0	0	1	0	11	125					C	32975445	T	C	32975445	3	2	70	1	0	0	0	0	1	0	0	0	11985	1821	63	4	742	4	PKP2	12	32975445	Missense_Mutation	SNP	T	TCGA-EJ-5524-01A-01D-1576-08	7826510	32975445	100876450	31	3645											
DNAH10	196385	broad.mit.edu	37	chr12	124395093	124395093	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttcacgttaggcctcttgaaGactcttaataccacaactga	12	12	6	11	1	3	3	1	2	2	1	3	3	3	3	2	1	2	1	2	1	5	5			TCGA-EJ-5524-01A-01D-1576-08	TCGA-EJ-5524-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb32ee2b-3ed2-4a8b-a7ed-89ef4bef7661	75bec014-53c0-49e0-88d8-fcd261d22ec1	g.chr12:124395093G>A	ENST00000409039.3	+	58	9679	c.9654G>A	c.(9652-9654)aaG>aaA	p.K3218K		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	3218	Stalk. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.K1810K(1)|p.K3218K(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		GCCTCTTGAAGACTCTTAATA	0.388																																						ENST00000409039.3																			2	Substitution - coding silent(2)	p.K1810K(1)|p.K3218K(1)	prostate(2)	breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52						c.(9652-9654)aaG>aaA		dynein, axonemal, heavy chain 10							117	119	118					12																	124395093		1880	4110	5990	SO:0001819	synonymous_variant	196385				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr12:124395093G>A	AJ132089	CCDS9255.2	12q24	2008-02-05	2006-09-04		ENSG00000197653	ENSG00000197653		"Axonemal dyneins"	2941	protein-coding gene	gene with protein product		605884	"dynein, axonemal, heavy polypeptide 10"				Standard	NM_207437		Approved	FLJ43808	uc001uft.4	Q8IVF4	OTTHUMG00000154477	ENST00000409039.3:c.9654G>A	12.37:g.124395093G>A							p.K3218K	NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)	58	9679	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		3218			Stalk (By similarity).		C9JMF5|O95495|Q6ZUC9|Q6ZUP6|Q8N761	Silent	SNP	ENST00000409039.3	37	c.9654G>A	CCDS9255.2	.	.	.	.	.	.	.	.	.	.	G	0.657	-0.807122	0.02819	.	.	ENSG00000197653	ENST00000540041	.	.	.	5.2	5.2	0.72013	.	.	.	.	.	T	0.74696	0.3750	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.73861	-0.3849	4	.	.	.	.	18.7279	0.91722	0.0:0.0:1.0:0.0	.	.	.	.	K	146	.	.	R	+	2	0	DNAH10	122961046	1.000000	0.71417	1.000000	0.80357	0.085000	0.17905	4.521000	0.60532	2.420000	0.82092	0.655000	0.94253	AGA		0.388	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335420.3			12	219	0	0	0	1	0	12	219					A	124395093	G	A	124395093	2	1	70	1	0	0	0	0	0	0	0	1	4598	933	33	3		3	DNAH10	12	124395093	Silent	SNP	G	TCGA-EJ-5524-01A-01D-1576-08	91419648	124395093	9456802	32	3646											
NIN	51199	broad.mit.edu	37	chr14	51223295	51223295	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagctcttcctccttttctcCgtgagaaagtacatcttttt	7	17	5	12	1	3	1	0	1	3	1	6	2	5	1	3	0	2	2	3	0	2	6			TCGA-EJ-5524-01A-01D-1576-08	TCGA-EJ-5524-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb32ee2b-3ed2-4a8b-a7ed-89ef4bef7661	75bec014-53c0-49e0-88d8-fcd261d22ec1	g.chr14:51223295C>T	ENST00000382041.3	-	18	4643	c.4453G>A	c.(4453-4455)Gga>Aga	p.G1485R	NIN_ENST00000245441.5_Missense_Mutation_p.G1485R|NIN_ENST00000530997.2_Missense_Mutation_p.G1485R|NIN_ENST00000382043.4_Intron|NIN_ENST00000453196.1_Missense_Mutation_p.G1485R|NIN_ENST00000389868.3_Intron|NIN_ENST00000324330.9_Missense_Mutation_p.G1485R	NM_016350.4|NM_182946.1	NP_057434.4|NP_891991	Q8N4C6	NIN_HUMAN	ninein (GSK3B interacting protein)	1485					centrosome localization (GO:0051642)|centrosome-templated microtubule nucleation (GO:0090222)|microtubule anchoring at centrosome (GO:0034454)	centriole (GO:0005814)|centrosome (GO:0005813)|microtubule (GO:0005874)|nucleolus (GO:0005730)|spindle pole (GO:0000922)	calcium ion binding (GO:0005509)|GTP binding (GO:0005525)	p.G1491R(1)|p.G1485R(1)		breast(4)|central_nervous_system(1)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(13)|lung(16)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	71	all_epithelial(31;0.00244)|Breast(41;0.127)					tccttttctccgtgagaaagt	0.413			T	PDGFRB	MPD																																	ENST00000245441.5				Dom	yes		14	14q24	51199	T	ninein (GSK3B interacting protein)			L	PDGFRB		MPD		2	Substitution - Missense(2)	p.G1491R(1)|p.G1485R(1)	prostate(2)	breast(4)|central_nervous_system(1)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(13)|lung(16)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	71						c.(4453-4455)Gga>Aga		ninein (GSK3B interacting protein)							117	84	95					14																	51223295		2203	4300	6503	SO:0001583	missense	51199				centrosome localization	centrosome|microtubule	calcium ion binding|GTP binding|protein binding	g.chr14:51223295C>T	AF212162	CCDS32078.1, CCDS32079.1, CCDS32078.2	14q21-q22	2013-01-10			ENSG00000100503	ENSG00000100503		"EF-hand domain containing"	14906	protein-coding gene	gene with protein product		608684				11004522, 11162463	Standard	NM_020921		Approved		uc001wyi.3	Q8N4C6	OTTHUMG00000029569	ENST00000382041.3:c.4453G>A	14.37:g.51223295C>T	ENSP00000371472:p.Gly1485Arg					NIN_ENST00000389868.3_Intron|NIN_ENST00000324330.9_Missense_Mutation_p.G1485R|NIN_ENST00000382043.4_Intron|NIN_ENST00000453196.1_Missense_Mutation_p.G1485R|NIN_ENST00000382041.3_Missense_Mutation_p.G1485R|NIN_ENST00000530997.2_Missense_Mutation_p.G1485R	p.G1485R	NM_020921.3	NP_065972.3	Q8N4C6	NIN_HUMAN			18	4643	-	all_epithelial(31;0.00244)|Breast(41;0.127)		1485					A6NDB8|B7WPA3|C9JSB6|C9JSG2|C9JXL2|Q5BKU3|Q6P0P6|Q9BWU6|Q9C012|Q9C013|Q9C014|Q9H5I6|Q9HAT7|Q9HBY5|Q9HCK7|Q9UH61	Missense_Mutation	SNP	ENST00000382041.3	37	c.4453G>A	CCDS32079.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.40|12.40	1.927084|1.927084	0.34002|0.34002	.|.	.|.	ENSG00000100503|ENSG00000100503	ENST00000245441;ENST00000311149;ENST00000324292;ENST00000382041;ENST00000324330;ENST00000453196|ENST00000530997;ENST00000389869;ENST00000530853	T;T;T;T|.	0.08807|.	3.33;3.05;3.06;3.06|.	5.59|5.59	4.69|4.69	0.59074|0.59074	EF-hand-like domain (1);|.	0.162902|.	0.42172|.	D|.	0.000741|.	T|T	0.61362|0.61362	0.2341|0.2341	M|M	0.67953|0.67953	2.075|2.075	0.32202|0.32202	N|N	0.577671|0.577671	D;D;D;D|.	0.67145|.	0.993;0.992;0.986;0.996|.	P;P;P;P|.	0.56514|.	0.728;0.8;0.728;0.8|.	T|T	0.68930|0.68930	-0.5279|-0.5279	10|5	0.10377|.	T|.	0.69|.	-9.137|-9.137	12.4423|12.4423	0.55631|0.55631	0.0:0.8313:0.1687:0.0|0.0:0.8313:0.1687:0.0	.|.	1491;1485;1485;1485|.	Q8N4C6-5;C9J066;Q8N4C6;Q8N4C6-7|.	.;.;NIN_HUMAN;.|.	R|Q	1485;1468;1491;1485;1485;1485|975	ENSP00000245441:G1485R;ENSP00000371472:G1485R;ENSP00000324210:G1485R;ENSP00000412391:G1485R|.	ENSP00000245441:G1485R|.	G|R	-|-	1|2	0|0	NIN|NIN	50293045|50293045	0.981000|0.981000	0.34729|0.34729	0.991000|0.991000	0.47740|0.47740	0.733000|0.733000	0.41908|0.41908	2.712000|2.712000	0.47186|0.47186	1.335000|1.335000	0.45486|0.45486	0.655000|0.655000	0.94253|0.94253	GGA|CGG		0.413	NIN-016	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000395207.2	NM_182946		4	59	0	0	0	1	0	4	59					T	51223295	C	T	51223295	3	4	70	1	0	0	0	0	1	0	0	0	10417	661	23	2	2152	2	NIN	14	51223295	Missense_Mutation	SNP	C	TCGA-EJ-5524-01A-01D-1576-08		51223295	56126245	33	3647											
SLC8A3	6547	broad.mit.edu	37	chr14	70634187	70634187	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcttcagatccttgagaatcCggatcatctctctgcgggac	8	11	10	12	2	4	2	2	1	2	2	7	5	6	4	2	2	1	1	2	2	1	2	rs541631348	byFrequency	TCGA-EJ-5524-01A-01D-1576-08	TCGA-EJ-5524-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb32ee2b-3ed2-4a8b-a7ed-89ef4bef7661	75bec014-53c0-49e0-88d8-fcd261d22ec1	g.chr14:70634187C>T	ENST00000381269.2	-	2	1706	c.953G>A	c.(952-954)cGg>cAg	p.R318Q	SLC8A3_ENST00000356921.2_Missense_Mutation_p.R318Q|SLC8A3_ENST00000357887.3_Missense_Mutation_p.R318Q|SLC8A3_ENST00000528359.1_Missense_Mutation_p.R318Q|SLC8A3_ENST00000534137.1_Missense_Mutation_p.R318Q	NM_058240.2|NM_183002.1	NP_489479.1|NP_892114.1	P57103	NAC3_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 3	318					blood coagulation (GO:0007596)|calcium ion export from cell (GO:1990034)|calcium ion import into cell (GO:1990035)|calcium ion transport into cytosol (GO:0060402)|cell communication (GO:0007154)|cellular response to cAMP (GO:0071320)|hematopoietic progenitor cell differentiation (GO:0002244)|ion transport (GO:0006811)|telencephalon development (GO:0021537)|transmembrane transport (GO:0055085)	dendritic spine (GO:0043197)|integral component of membrane (GO:0016021)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)	calcium:sodium antiporter activity (GO:0005432)	p.R318Q(1)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6)	54				BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)		CTTGAGAATCCGGATCATCTC	0.483													C|||	2	0.000399361	0	0	5008	,	,		20747	0		0	False		,,,				2504	0.002					ENST00000381269.2																			1	Substitution - Missense(1)	p.R318Q(1)	prostate(1)	NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6)	54						c.(952-954)cGg>cAg		solute carrier family 8 (sodium/calcium exchanger), member 3							91	92	92					14																	70634187		2203	4300	6503	SO:0001583	missense	6547				cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding	g.chr14:70634187C>T	AJ304852	CCDS9799.1, CCDS9800.1, CCDS35498.1, CCDS41967.1, CCDS45131.1, CCDS53904.1	14q24.1	2013-05-22	2008-09-02		ENSG00000100678	ENSG00000100678		"Solute carriers"	11070	protein-coding gene	gene with protein product		607991				8798769	Standard	XM_005268017		Approved	NCX3	uc001xly.3	P57103	OTTHUMG00000152342	ENST00000381269.2:c.953G>A	14.37:g.70634187C>T	ENSP00000370669:p.Arg318Gln					SLC8A3_ENST00000356921.2_Missense_Mutation_p.R318Q|SLC8A3_ENST00000357887.3_Missense_Mutation_p.R318Q|SLC8A3_ENST00000534137.1_Missense_Mutation_p.R318Q|SLC8A3_ENST00000528359.1_Missense_Mutation_p.R318Q	p.R318Q	NM_058240.2|NM_183002.1	NP_489479.1|NP_892114.1	P57103	NAC3_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)	2	1706	-			318					Q5K3P6|Q5K3P7|Q8IUE9|Q8IUF0|Q8NFI7|Q96QG1|Q96QG2	Missense_Mutation	SNP	ENST00000381269.2	37	c.953G>A	CCDS35498.1	.	.	.	.	.	.	.	.	.	.	C	6.969	0.548712	0.13312	.	.	ENSG00000100678	ENST00000356921;ENST00000381269;ENST00000357887;ENST00000534137;ENST00000528359	T;T;T;T;T	0.36340	1.35;1.26;1.4;1.34;1.4	5.85	4.96	0.65561	.	0.000000	0.85682	D	0.000000	T	0.26268	0.0641	N	0.21508	0.67	0.58432	D	0.999998	P;P;P;P	0.45715	0.865;0.788;0.669;0.791	B;B;B;B	0.40636	0.335;0.18;0.18;0.18	T	0.01956	-1.1240	10	0.31617	T	0.26	.	14.3831	0.66923	0.0:0.9297:0.0:0.0703	.	318;318;318;318	P57103-2;P57103;Q96QG2;Q96QG1	.;NAC3_HUMAN;.;.	Q	318	ENSP00000349392:R318Q;ENSP00000370669:R318Q;ENSP00000350560:R318Q;ENSP00000436688:R318Q;ENSP00000433531:R318Q	ENSP00000349392:R318Q	R	-	2	0	SLC8A3	69703940	1.000000	0.71417	1.000000	0.80357	0.211000	0.24417	4.973000	0.63763	2.753000	0.94483	0.655000	0.94253	CGG		0.483	SLC8A3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390736.1			6	170	0	0	0	1	0	6	170					T	70634187	C	T	70634187	3	4	70	1	0	0	0	0	1	0	0	0	14708	652	23	2	1969	2	SLC8A3	14	70634187	Missense_Mutation	SNP	C	TCGA-EJ-5524-01A-01D-1576-08	19410892	70634187	36715353	34	3648											
ASPG	374569	broad.mit.edu	37	chr14	104552115	104552115	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccccggtccggcatggcgcGcgcggtggggcccgagcgga	3	4	19	15	8	0	0	0	0	0	0	2	2	2	1	4	7	1	1	4	7	0	0			TCGA-EJ-5524-01A-01D-1576-08	TCGA-EJ-5524-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb32ee2b-3ed2-4a8b-a7ed-89ef4bef7661	75bec014-53c0-49e0-88d8-fcd261d22ec1	g.chr14:104552115G>A	ENST00000551177.1	+	1	100	c.8G>A	c.(7-9)cGc>cAc	p.R3H	ASPG_ENST00000455920.2_Missense_Mutation_p.R3H|ASPG_ENST00000546892.2_Missense_Mutation_p.R3H	NM_001080464.2	NP_001073933.2	Q86U10	LPP60_HUMAN	asparaginase	3					asparagine metabolic process (GO:0006528)|lipid catabolic process (GO:0016042)|phospholipid metabolic process (GO:0006644)		1-alkyl-2-acetylglycerophosphocholine esterase activity (GO:0003847)|asparaginase activity (GO:0004067)|lysophospholipase activity (GO:0004622)	p.R3H(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	11						GGCATGGCGCGCGCGGTGGGG	0.761																																						ENST00000551177.1																			1	Substitution - Missense(1)	p.R3H(1)	prostate(1)	endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	11						c.(7-9)cGc>cAc		asparaginase homolog (S. cerevisiae)							9	10	10					14																	104552115		1663	3722	5385	SO:0001583	missense	374569				lipid catabolic process		1-alkyl-2-acetylglycerophosphocholine esterase activity|asparaginase activity|lysophospholipase activity	g.chr14:104552115G>A		CCDS45170.1, CCDS45170.2	14q32.33	2014-03-14	2014-03-14	2008-11-06	ENSG00000166183	ENSG00000166183	3.1.1.5, 3.5.1.1	"Ankyrin repeat domain containing"	20123	protein-coding gene	gene with protein product	"60-kDa-lysophospholipase"		"chromosome 14 open reading frame 76", "asparaginase homolog (S. cerevisiae)"	C14orf76			Standard	NM_001080464		Approved		uc001yoq.2	Q86U10		ENST00000551177.1:c.8G>A	14.37:g.104552115G>A	ENSP00000450040:p.Arg3His					ASPG_ENST00000546892.2_Missense_Mutation_p.R3H|ASPG_ENST00000455920.2_Missense_Mutation_p.R3H	p.R3H	NM_001080464.2	NP_001073933.2	Q86U10	LPP60_HUMAN			1	100	+			3					B9EGQ2|Q8IV80	Missense_Mutation	SNP	ENST00000551177.1	37	c.8G>A	CCDS45170.2	.	.	.	.	.	.	.	.	.	.	G	15.12	2.740241	0.49045	.	.	ENSG00000166183	ENST00000551177;ENST00000546892;ENST00000455920	T;T;T	0.37915	1.17;1.56;1.17	3.67	1.67	0.24075	.	.	.	.	.	T	0.35068	0.0919	N	0.14661	0.345	0.25553	N	0.987063	D;P;D	0.89917	1.0;0.949;0.97	D;B;B	0.74023	0.982;0.18;0.334	T	0.10200	-1.0640	9	0.46703	T	0.11	.	4.1994	0.10458	0.1274:0.0:0.6469:0.2257	.	3;3;3	G3V1Y8;Q86U10;Q86U10-3	.;LPP60_HUMAN;.	H	3	ENSP00000450040:R3H;ENSP00000448911:R3H;ENSP00000389003:R3H	ENSP00000389003:R3H	R	+	2	0	ASPG	103621868	0.967000	0.33354	0.888000	0.34837	0.034000	0.12701	2.059000	0.41384	0.748000	0.32831	0.511000	0.50034	CGC		0.761	ASPG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407005.1	NM_001080464		4	2	0	0	0	1	0	4	2					A	104552115	G	A	104552115	3	1	70	1	0	0	0	0	1	0	0	0	1052	1087	38	1	10	1	ASPG	14	104552115	Missense_Mutation	SNP	G	TCGA-EJ-5524-01A-01D-1576-08	33917928	104552115	2797425	35	3649											
ARHGAP11A	9824	broad.mit.edu	37	chr15	32920998	32921007	+	Splice_Site	DEL	GAATTGGTAG	GAATTGGTAG	-																															tattacacctcaagaagaaaGaattggtaggtatttattat																								rs372419991		TCGA-EJ-5524-01A-01D-1576-08	TCGA-EJ-5524-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb32ee2b-3ed2-4a8b-a7ed-89ef4bef7661	75bec014-53c0-49e0-88d8-fcd261d22ec1	g.chr15:32920998_32921007delGAATTGGTAG	ENST00000361627.3	+	7	1654_1659	c.932_937delGAATTGGTAG	c.(931-939)agaattggt>agt	p.RIG311fs	ARHGAP11A_ENST00000567348.1_Splice_Site_p.RIG311fs|ARHGAP11A_ENST00000543522.1_Splice_Site_p.RIG122fs|ARHGAP11A_ENST00000565905.1_Splice_Site_p.RIG122fs|ARHGAP11A_ENST00000563864.1_Splice_Site_p.RIG311fs	NM_014783.3	NP_055598.1	Q6P4F7	RHGBA_HUMAN	Rho GTPase activating protein 11A	311					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)	p.A313P(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	31		all_lung(180;1.3e-11)		all cancers(64;3.34e-21)|Epithelial(43;2.64e-15)|GBM - Glioblastoma multiforme(186;5.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.00112)|Lung(196;0.227)		CAAGAAGAAAGAATTGGTAGGTATTTATTA	0.238																																					Colon(45;757 1134 30003 36652)	ENST00000361627.3																			1	Substitution - Missense(1)	p.A313P(1)	large_intestine(1)	breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	31						c.e7+1		Rho GTPase activating protein 11A																																				SO:0001630	splice_region_variant	9824				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	g.chr15:32920998_32921007delGAATTGGTAG	D87717	CCDS10028.1, CCDS58349.1, CCDS66730.1	15q13.3	2006-09-19			ENSG00000198826	ENSG00000198826		"Rho GTPase activating proteins"	15783	protein-coding gene	gene with protein product	"GAP (1-12)"	610589				11829490	Standard	NM_199357		Approved	KIAA0013	uc001zgy.1	Q6P4F7	OTTHUMG00000129289	ENST00000361627.3:c.937+1GAATTGGTAG>-	15.37:g.32920998_32921007delGAATTGGTAG						ARHGAP11A_ENST00000563864.1_Splice_Site_p.S311_splice|ARHGAP11A_ENST00000543522.1_Splice_Site_p.S122_splice|ARHGAP11A_ENST00000567348.1_Splice_Site_p.S311_splice|ARHGAP11A_ENST00000565905.1_Splice_Site_p.S122_splice	p.S311_splice	NM_014783.3	NP_055598.1	Q6P4F7	RHGBA_HUMAN		all cancers(64;3.34e-21)|Epithelial(43;2.64e-15)|GBM - Glioblastoma multiforme(186;5.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.00112)|Lung(196;0.227)	7	1654_1659	+		all_lung(180;1.3e-11)	311					B4DZN9|Q6PI96|Q9Y3S6	Splice_Site	DEL	ENST00000361627.3	37	c.937_splice	CCDS10028.1																																																																																				0.238	ARHGAP11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251417.1	NM_014783	Frame_Shift_Del	13	141						13	141	---	---	---	---	-	32921007	GAATTGGTAG	-	32920998	8	5	70	1	0	1	0	1	0	0	1	0	863	942	33	0	958	0	ARHGAP11A	15	32920998	Splice_Site	DEL	GAATTGGTAG	TCGA-EJ-5524-01A-01D-1576-08		32920998	69610394	36	3650											
TYRO3	7301	broad.mit.edu	37	chr15	41860444	41860444	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgctccccaaaacctccatGccatccgcacagattcaggc	10	6	7	18	2	1	1	1	0	0	1	4	1	4	1	6	1	2	2	6	1	2	1			TCGA-EJ-5524-01A-01D-1576-08	TCGA-EJ-5524-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb32ee2b-3ed2-4a8b-a7ed-89ef4bef7661	75bec014-53c0-49e0-88d8-fcd261d22ec1	g.chr15:41860444G>A	ENST00000263798.3	+	8	1215	c.991G>A	c.(991-993)Gcc>Acc	p.A331T	TYRO3_ENST00000559066.1_Missense_Mutation_p.A286T	NM_006293.3	NP_006284.2	Q06418	TYRO3_HUMAN	TYRO3 protein tyrosine kinase	331	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				apoptotic cell clearance (GO:0043277)|cell adhesion (GO:0007155)|forebrain cell migration (GO:0021885)|natural killer cell differentiation (GO:0001779)|negative regulation of inflammatory response (GO:0050728)|negative regulation of innate immune response (GO:0045824)|negative regulation of lymphocyte activation (GO:0051250)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|neuron cellular homeostasis (GO:0070050)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol 3-kinase signaling (GO:0014065)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|protein autophosphorylation (GO:0046777)|protein kinase B signaling (GO:0043491)|secretion by cell (GO:0032940)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|spermatogenesis (GO:0007283)|substrate adhesion-dependent cell spreading (GO:0034446)|vagina development (GO:0060068)	endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)	ATP binding (GO:0005524)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.A331T(1)|p.A323T(1)		central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(26)|ovary(3)|prostate(1)	43		all_cancers(109;7.33e-15)|all_epithelial(112;2.8e-12)|Lung NSC(122;3.48e-08)|all_lung(180;1.71e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.31e-18)|GBM - Glioblastoma multiforme(113;9.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.117)		AAACCTCCATGCCATCCGCAC	0.572																																						ENST00000263798.3																			2	Substitution - Missense(2)	p.A331T(1)|p.A323T(1)	prostate(2)	central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(26)|ovary(3)|prostate(1)	43						c.(991-993)Gcc>Acc		TYRO3 protein tyrosine kinase							60	58	59					15																	41860444		2203	4300	6503	SO:0001583	missense	7301					integral to plasma membrane	ATP binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity	g.chr15:41860444G>A	D50479	CCDS10080.1	15q15.1-q21.1	2013-02-11			ENSG00000092445	ENSG00000092445	2.7.10.1	"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12446	protein-coding gene	gene with protein product		600341		RSE		7851890	Standard	NM_006293		Approved	Dtk, Brt, Tif, Sky	uc001zof.2	Q06418	OTTHUMG00000130341	ENST00000263798.3:c.991G>A	15.37:g.41860444G>A	ENSP00000263798:p.Ala331Thr					TYRO3_ENST00000559066.1_Missense_Mutation_p.A286T	p.A331T	NM_006293.3	NP_006284.2	Q06418	TYRO3_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;3.31e-18)|GBM - Glioblastoma multiforme(113;9.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.117)	8	1215	+		all_cancers(109;7.33e-15)|all_epithelial(112;2.8e-12)|Lung NSC(122;3.48e-08)|all_lung(180;1.71e-07)|Melanoma(134;0.0262)	331			Fibronectin type-III 2.		O14953|Q86VR3	Missense_Mutation	SNP	ENST00000263798.3	37	c.991G>A	CCDS10080.1	.	.	.	.	.	.	.	.	.	.	G	16.76	3.213082	0.58452	.	.	ENSG00000092445	ENST00000540218;ENST00000263798	T	0.60299	0.2	4.96	4.96	0.65561	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.40640	N	0.001045	T	0.51584	0.1683	L	0.58101	1.795	0.32350	N	0.558623	P	0.35124	0.485	B	0.37550	0.253	T	0.62148	-0.6915	10	0.39692	T	0.17	-14.7784	7.3749	0.26823	0.1782:0.0:0.8217:0.0	.	331	Q06418	TYRO3_HUMAN	T	263;331	ENSP00000263798:A331T	ENSP00000263798:A331T	A	+	1	0	TYRO3	39647736	1.000000	0.71417	1.000000	0.80357	0.727000	0.41649	2.667000	0.46808	2.586000	0.87340	0.563000	0.77884	GCC		0.572	TYRO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252693.2			17	74	0	0	0	1	0	17	74					A	41860444	G	A	41860444	3	1	70	1	0	0	0	0	1	0	0	0	16811	1319	46	3	1021	3	TYRO3	15	41860444	Missense_Mutation	SNP	G	TCGA-EJ-5524-01A-01D-1576-08	8939446	41860444	60670948	37	3651											
ATP8B4	79895	broad.mit.edu	37	chr15	50193367	50193368	+	Frame_Shift_Ins	INS	-	-	T																															aatccaactccagctgctgcINStttttttcacaaactacatg																										TCGA-EJ-5524-01A-01D-1576-08	TCGA-EJ-5524-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb32ee2b-3ed2-4a8b-a7ed-89ef4bef7661	75bec014-53c0-49e0-88d8-fcd261d22ec1	g.chr15:50193367_50193368insT	ENST00000284509.6	-	21	2351_2352	c.2210_2211insA	c.(2209-2211)aagfs	p.K737fs	ATP8B4_ENST00000559829.1_Frame_Shift_Ins_p.K737fs	NM_024837.2	NP_079113.2	Q8TF62	AT8B4_HUMAN	ATPase, class I, type 8B, member 4	737						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1)	73		all_lung(180;0.00183)		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)		CCAGCTGCTGCTTTTTTTCACA	0.361																																						ENST00000284509.6																			0				breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1)	73						c.(2209-2211)acafs		ATPase, class I, type 8B, member 4																																				SO:0001589	frameshift_variant	79895				ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr15:50193367_50193368insT	AB075819	CCDS32238.1	15q21.2	2010-04-20	2007-09-19		ENSG00000104043	ENSG00000104043		"ATPases / P-type"	13536	protein-coding gene	gene with protein product		609123	"ATPase, Class I, type 8B, member 4"			11015572	Standard	NM_024837		Approved	ATPIM, KIAA1939	uc001zxu.3	Q8TF62		ENST00000284509.6:c.2211dupA	15.37:g.50193374_50193374dupT	ENSP00000284509:p.Lys737fs					ATP8B4_ENST00000559829.1_Frame_Shift_Ins_p.T737fs	p.T737fs	NM_024837.2	NP_079113.2	Q8TF62	AT8B4_HUMAN		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)	21	2351_2352	-		all_lung(180;0.00183)	737					Q9H727	Frame_Shift_Ins	INS	ENST00000284509.6	37	c.2210_2211insA	CCDS32238.1																																																																																				0.361	ATP8B4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418100.1	NM_024837		7	177						7	177	---	---	---	---	T	50193368	-	T	50193367	7	5	70	1	0	1	1	0	0	0	0	0	1197	796	28	0	1399	0	ATP8B4	15	50193367	Frame_Shift_Ins	INS	-	TCGA-EJ-5524-01A-01D-1576-08	8332923	50193367	52338025	38	3652											
SMAD3	4088	broad.mit.edu	37	chr15	67477178	67477178	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agcgctatggctggcacccgGccaccgtctgcaagatccca	8	6	11	16	3	1	1	0	0	1	1	2	1	2	1	4	3	2	4	4	3	2	1			TCGA-EJ-5524-01A-01D-1576-08	TCGA-EJ-5524-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb32ee2b-3ed2-4a8b-a7ed-89ef4bef7661	75bec014-53c0-49e0-88d8-fcd261d22ec1	g.chr15:67477178G>T	ENST00000327367.4	+	7	1295	c.985G>T	c.(985-987)Gcc>Tcc	p.A329S	SMAD3_ENST00000439724.3_Missense_Mutation_p.A285S|SMAD3_ENST00000537194.2_Missense_Mutation_p.A134S|SMAD3_ENST00000540846.2_Missense_Mutation_p.A224S	NM_005902.3	NP_005893.1	P84022	SMAD3_HUMAN	SMAD family member 3	329	MH2. {ECO:0000255|PROSITE- ProRule:PRU00439}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:0097296)|activin receptor signaling pathway (GO:0032924)|cell cycle arrest (GO:0007050)|cell-cell junction organization (GO:0045216)|developmental growth (GO:0048589)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic foregut morphogenesis (GO:0048617)|embryonic pattern specification (GO:0009880)|endoderm development (GO:0007492)|evasion or tolerance of host defenses by virus (GO:0019049)|extrinsic apoptotic signaling pathway (GO:0097191)|gene expression (GO:0010467)|heart looping (GO:0001947)|immune response (GO:0006955)|immune system development (GO:0002520)|in utero embryonic development (GO:0001701)|intracellular signal transduction (GO:0035556)|lens fiber cell differentiation (GO:0070306)|liver development (GO:0001889)|mesoderm formation (GO:0001707)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of inflammatory response (GO:0050728)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of osteoblast proliferation (GO:0033689)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of wound healing (GO:0061045)|nodal signaling pathway (GO:0038092)|osteoblast development (GO:0002076)|paraxial mesoderm morphogenesis (GO:0048340)|pericardium development (GO:0060039)|positive regulation of alkaline phosphatase activity (GO:0010694)|positive regulation of bone mineralization (GO:0030501)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell migration (GO:0030335)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of gene expression (GO:0010628)|positive regulation of gene expression involved in extracellular matrix organization (GO:1901313)|positive regulation of interleukin-1 beta production (GO:0032731)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription factor import into nucleus (GO:0042993)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta3 production (GO:0032916)|primary miRNA processing (GO:0031053)|protein stabilization (GO:0050821)|regulation of binding (GO:0051098)|regulation of epithelial cell proliferation (GO:0050678)|regulation of immune response (GO:0050776)|regulation of striated muscle tissue development (GO:0016202)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|regulation of transforming growth factor beta2 production (GO:0032909)|response to hypoxia (GO:0001666)|signal transduction involved in regulation of gene expression (GO:0023019)|SMAD protein complex assembly (GO:0007183)|somitogenesis (GO:0001756)|T cell activation (GO:0042110)|thyroid gland development (GO:0030878)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transdifferentiation (GO:0060290)|transforming growth factor beta receptor signaling pathway (GO:0007179)|transport (GO:0006810)|ureteric bud development (GO:0001657)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nuclear inner membrane (GO:0005637)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|SMAD protein complex (GO:0071141)|SMAD2-SMAD3 protein complex (GO:0071144)|transcription factor complex (GO:0005667)	beta-catenin binding (GO:0008013)|bHLH transcription factor binding (GO:0043425)|chromatin DNA binding (GO:0031490)|co-SMAD binding (GO:0070410)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|double-stranded DNA binding (GO:0003690)|enhancer binding (GO:0035326)|phosphatase binding (GO:0019902)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|R-SMAD binding (GO:0070412)|RNA polymerase II activating transcription factor binding (GO:0001102)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|transforming growth factor beta receptor binding (GO:0005160)|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity (GO:0030618)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.A329S(1)		autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(11)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31				Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(7;0.125)		CTGGCACCCGGCCACCGTCTG	0.597																																						ENST00000327367.4																			1	Substitution - Missense(1)	p.A329S(1)	prostate(1)	autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(11)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						c.(985-987)Gcc>Tcc		SMAD family member 3							86	76	79					15																	67477178		2201	4299	6500	SO:0001583	missense	4088				activation of caspase activity|cell cycle arrest|cell-cell junction organization|evasion of host defenses by virus|immune response|induction of apoptosis|negative regulation of cell growth|negative regulation of mitotic cell cycle|negative regulation of protein catabolic process|negative regulation of protein phosphorylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter|primary miRNA processing|protein stabilization|regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|SMAD protein complex assembly|transforming growth factor beta receptor signaling pathway|transport|wound healing	cytosol|nuclear inner membrane|receptor complex	beta-catenin binding|co-SMAD binding|metal ion binding|protein homodimerization activity|protein kinase binding|R-SMAD binding|RNA polymerase II activating transcription factor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transforming growth factor beta receptor binding|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity|ubiquitin protein ligase binding	g.chr15:67477178G>T	BC050743	CCDS10222.1, CCDS45288.1, CCDS53950.1, CCDS53951.1	15q21-q22	2006-11-06	2006-11-06	2004-05-26	ENSG00000166949	ENSG00000166949		"SMADs"	6769	protein-coding gene	gene with protein product		603109	"MAD, mothers against decapentaplegic homolog 3 (Drosophila)", "SMAD, mothers against DPP homolog 3 (Drosophila)"	MADH3		8774881, 8673135	Standard	NM_001145102		Approved	JV15-2, HsT17436	uc002aqj.3	P84022	OTTHUMG00000133230	ENST00000327367.4:c.985G>T	15.37:g.67477178G>T	ENSP00000332973:p.Ala329Ser					SMAD3_ENST00000439724.3_Missense_Mutation_p.A285S|SMAD3_ENST00000540846.2_Missense_Mutation_p.A224S|SMAD3_ENST00000537194.2_Missense_Mutation_p.A134S	p.A329S	NM_005902.3	NP_005893.1	P84022	SMAD3_HUMAN		Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(7;0.125)	7	1295	+			329			MH2.		A8K4B6|B7Z4Z5|B7Z6M9|B7Z9Q2|F5H383|O09064|O09144|O14510|O35273|Q92940|Q93002|Q9GKR4	Missense_Mutation	SNP	ENST00000327367.4	37	c.985G>T	CCDS10222.1	.	.	.	.	.	.	.	.	.	.	G	33	5.259644	0.95368	.	.	ENSG00000166949	ENST00000327367;ENST00000535241;ENST00000540846;ENST00000439724;ENST00000537194	D;D;D;D	0.97041	-4.22;-4.22;-4.22;-4.22	5.19	5.19	0.71726	SMAD domain-like (1);SMAD/FHA domain (1);SMAD domain, Dwarfin-type (3);	0.000000	0.85682	D	0.000000	D	0.97040	0.9033	L	0.33792	1.035	0.80722	D	1	P;D	0.61080	0.903;0.989	P;D	0.67103	0.88;0.949	D	0.96378	0.9279	10	0.29301	T	0.29	.	18.7296	0.91730	0.0:0.0:1.0:0.0	.	285;329	B7Z4Z5;P84022	.;SMAD3_HUMAN	S	329;329;224;285;134	ENSP00000332973:A329S;ENSP00000437757:A224S;ENSP00000401133:A285S;ENSP00000445348:A134S	ENSP00000332973:A329S	A	+	1	0	SMAD3	65264232	1.000000	0.71417	0.958000	0.39756	0.995000	0.86356	9.633000	0.98432	2.412000	0.81896	0.650000	0.86243	GCC		0.597	SMAD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256967.2	NM_005902		7	36	1	0	5.18039e-06	1	5.26819e-06	7	36					T	67477178	G	T	67477178	3	4	70	1	0	0	0	0	1	0	0	0	14759	1203	42	5	1089	5	SMAD3	15	67477178	Missense_Mutation	SNP	G	TCGA-EJ-5524-01A-01D-1576-08	17283811	67477178	35054214	39	3653											
CHD2	1106	broad.mit.edu	37	chr15	93524064	93524064	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gctcaaatccttttaataaaGaagagctgacagctattttg	14	13	7	7	0	1	3	1	1	0	2	2	3	2	3	1	0	2	3	1	0	6	6			TCGA-EJ-5524-01A-01D-1576-08	TCGA-EJ-5524-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb32ee2b-3ed2-4a8b-a7ed-89ef4bef7661	75bec014-53c0-49e0-88d8-fcd261d22ec1	g.chr15:93524064G>C	ENST00000394196.4	+	23	3964	c.2896G>C	c.(2896-2898)Gaa>Caa	p.E966Q	CHD2_ENST00000557381.1_Missense_Mutation_p.E966Q	NM_001271.3	NP_001262.3	O14647	CHD2_HUMAN	chromodomain helicase DNA binding protein 2	966	Glu-rich.				cellular response to DNA damage stimulus (GO:0006974)|chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|hematopoietic stem cell differentiation (GO:0060218)|muscle organ development (GO:0007517)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|histone binding (GO:0042393)|poly(A) RNA binding (GO:0044822)	p.E966Q(2)		breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	47	Lung NSC(78;0.00976)|all_lung(78;0.016)		BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)			TTTTAATAAAGAAGAGCTGAC	0.368																																						ENST00000394196.4																			2	Substitution - Missense(2)	p.E966Q(2)	prostate(2)	breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	47						c.(2896-2898)Gaa>Caa		chromodomain helicase DNA binding protein 2							43	47	46					15																	93524064		2192	4295	6487	SO:0001583	missense	1106				regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding	g.chr15:93524064G>C	AF006514	CCDS10374.2, CCDS45356.1	15q26	2008-07-18			ENSG00000173575	ENSG00000173575			1917	protein-coding gene	gene with protein product		602119				9326634	Standard	NM_001042572		Approved	FLJ38614, DKFZp547I1315, DKFZp781D1727, DKFZp686E01200	uc002bsp.3	O14647	OTTHUMG00000149845	ENST00000394196.4:c.2896G>C	15.37:g.93524064G>C	ENSP00000377747:p.Glu966Gln					CHD2_ENST00000557381.1_Missense_Mutation_p.E966Q	p.E966Q	NM_001271.3	NP_001262.3	O14647	CHD2_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)		23	3964	+	Lung NSC(78;0.00976)|all_lung(78;0.016)		966			Glu-rich.		C6G482|Q96IP5	Missense_Mutation	SNP	ENST00000394196.4	37	c.2896G>C	CCDS10374.2	.	.	.	.	.	.	.	.	.	.	G	28.4	4.913709	0.92178	.	.	ENSG00000173575	ENST00000394196;ENST00000557381	T;T	0.77489	-1.1;-1.1	5.38	5.38	0.77491	.	0.000000	0.35067	U	0.003462	T	0.76456	0.3990	L	0.46567	1.45	0.80722	D	1	B;B	0.32338	0.109;0.365	B;B	0.36186	0.013;0.219	T	0.76277	-0.3018	10	0.54805	T	0.06	-27.9263	19.137	0.93431	0.0:0.0:1.0:0.0	.	966;966	O14647;O14647-2	CHD2_HUMAN;.	Q	966	ENSP00000377747:E966Q;ENSP00000451366:E966Q	ENSP00000377747:E966Q	E	+	1	0	CHD2	91325068	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.835000	0.99442	2.532000	0.85374	0.561000	0.74099	GAA		0.368	CHD2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000313528.3	NM_001271		12	105	0	0	0	1	0	12	105					C	93524064	G	C	93524064	3	2	70	1	0	0	0	0	1	0	0	0	3325	943	33	5	2986	5	CHD2	15	93524064	Missense_Mutation	SNP	G	TCGA-EJ-5524-01A-01D-1576-08	26046886	93524064	9007328	40	3654											
SMARCE1	6605	broad.mit.edu	37	chr17	38792754	38792754	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccacaactttaggtcagggtTggaagcctttacttggtccc	8	12	10	11	0	1	0	1	0	0	0	2	1	2	1	3	4	3	1	3	4	4	6			TCGA-EJ-5524-01A-01D-1576-08	TCGA-EJ-5524-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb32ee2b-3ed2-4a8b-a7ed-89ef4bef7661	75bec014-53c0-49e0-88d8-fcd261d22ec1	g.chr17:38792754T>C	ENST00000348513.6	-	6	1042	c.262A>G	c.(262-264)Aac>Gac	p.N88D	KRT222_ENST00000476049.1_3'UTR|SMARCE1_ENST00000431889.2_Missense_Mutation_p.N70D|SMARCE1_ENST00000544009.1_Missense_Mutation_p.N18D|SMARCE1_ENST00000377808.4_Missense_Mutation_p.N53D|SMARCE1_ENST00000400122.3_Missense_Mutation_p.N18D|SMARCE1_ENST00000578044.1_Missense_Mutation_p.N18D|SMARCE1_ENST00000580419.1_Missense_Mutation_p.N53D	NM_003079.4	NP_003070.3	Q969G3	SMCE1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1	88					ATP-dependent chromatin remodeling (GO:0043044)|chromatin remodeling (GO:0006338)|metabolic process (GO:0008152)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|nucleosome disassembly (GO:0006337)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nuclear chromosome (GO:0000228)|nucleus (GO:0005634)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|N-acetyltransferase activity (GO:0008080)|protein N-terminus binding (GO:0047485)|RNA binding (GO:0003723)|transcription coactivator activity (GO:0003713)	p.N88D(1)		large_intestine(1)	1		Breast(137;0.000812)				AGGTCAGGGTTGGAAGCCTTT	0.363																																						ENST00000348513.6																			1	Substitution - Missense(1)	p.N88D(1)	prostate(1)	large_intestine(1)	1						c.(262-264)Aac>Gac		SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1							110	102	105					17																	38792754		2203	4300	6503	SO:0001583	missense	6605				chromatin modification|negative regulation of transcription, DNA-dependent|nervous system development|nucleosome disassembly|regulation of transcription from RNA polymerase II promoter	nBAF complex|npBAF complex|nuclear chromosome|SWI/SNF complex|transcriptional repressor complex	chromatin binding|DNA binding|N-acetyltransferase activity|protein binding|protein N-terminus binding|transcription coactivator activity	g.chr17:38792754T>C	AF035262	CCDS11370.1	17q21.2	2006-09-20			ENSG00000073584	ENSG00000073584			11109	protein-coding gene	gene with protein product		603111				9435219	Standard	NM_003079		Approved	BAF57	uc002hux.2	Q969G3	OTTHUMG00000133367	ENST00000348513.6:c.262A>G	17.37:g.38792754T>C	ENSP00000323967:p.Asn88Asp					SMARCE1_ENST00000580419.1_Missense_Mutation_p.N53D|SMARCE1_ENST00000431889.2_Missense_Mutation_p.N70D|SMARCE1_ENST00000544009.1_Missense_Mutation_p.N18D|SMARCE1_ENST00000578044.1_Missense_Mutation_p.N18D|SMARCE1_ENST00000400122.3_Missense_Mutation_p.N18D|SMARCE1_ENST00000377808.4_Missense_Mutation_p.N53D|KRT222_ENST00000476049.1_3'UTR	p.N88D	NM_003079.4	NP_003070.3	Q969G3	SMCE1_HUMAN			6	1042	-		Breast(137;0.000812)	88					B3KMC1|B4DFR4|C0IMW4|C0IMW5|C0IMW7|H7C3F6|O43539	Missense_Mutation	SNP	ENST00000348513.6	37	c.262A>G	CCDS11370.1	.	.	.	.	.	.	.	.	.	.	T	16.51	3.143819	0.57044	.	.	ENSG00000073584	ENST00000348513;ENST00000544009;ENST00000431889;ENST00000377808	D;D;D;D	0.98381	-4.9;-4.9;-4.9;-4.9	5.74	5.74	0.90152	High mobility group, superfamily (1);High mobility group, HMG1/HMG2 (4);	0.042264	0.85682	D	0.000000	D	0.98988	0.9655	M	0.87547	2.89	0.80722	D	1	D;D;D;D	0.71674	0.996;0.992;0.998;0.997	D;D;D;D	0.71414	0.965;0.942;0.965;0.973	D	0.99705	1.1005	10	0.66056	D	0.02	.	16.3305	0.83010	0.0:0.0:0.0:1.0	.	53;70;53;88	C0IMW5;B4DGM3;C0IMW4;Q969G3	.;.;.;SMCE1_HUMAN	D	88;18;70;53	ENSP00000323967:N88D;ENSP00000441857:N18D;ENSP00000445370:N70D;ENSP00000367039:N53D	ENSP00000323967:N88D	N	-	1	0	SMARCE1	36046280	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.920000	0.87521	2.317000	0.78254	0.459000	0.35465	AAC		0.363	SMARCE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257203.1	NM_003079		68	179	0	0	0	1	0	68	179					C	38792754	T	C	38792754	3	2	70	1	0	0	0	0	1	0	0	0	14780	1812	63	4	997	4	SMARCE1	17	38792754	Missense_Mutation	SNP	T	TCGA-EJ-5524-01A-01D-1576-08		38792754	42402456	41	3655											
NAGS	162417	broad.mit.edu	37	chr17	42085837	42085837	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacttcaaacacagtgatggCagcttctccaacaagcagtg	13	9	8	11	0	2	1	1	1	1	0	3	1	2	1	1	1	5	3	1	1	4	3			TCGA-EJ-5524-01A-01D-1576-08	TCGA-EJ-5524-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb32ee2b-3ed2-4a8b-a7ed-89ef4bef7661	75bec014-53c0-49e0-88d8-fcd261d22ec1	g.chr17:42085837C>T	ENST00000293404.3	+	7	1591	c.1473C>T	c.(1471-1473)ggC>ggT	p.G491G		NM_153006.2	NP_694551.1	Q8N159	NAGS_HUMAN	N-acetylglutamate synthase	491	N-acetyltransferase. {ECO:0000255|PROSITE-ProRule:PRU00532}.				arginine biosynthetic process (GO:0006526)|cellular nitrogen compound metabolic process (GO:0034641)|glutamate metabolic process (GO:0006536)|small molecule metabolic process (GO:0044281)|urea cycle (GO:0000050)	mitochondrial matrix (GO:0005759)	acetyl-CoA:L-glutamate N-acetyltransferase activity (GO:0004042)	p.G491G(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	8		Breast(137;0.00536)|Prostate(33;0.0724)		BRCA - Breast invasive adenocarcinoma(366;0.113)		ACAGTGATGGCAGCTTCTCCA	0.498																																						ENST00000293404.3																			1	Substitution - coding silent(1)	p.G491G(1)	prostate(1)	endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	8						c.(1471-1473)ggC>ggT		N-acetylglutamate synthase	L-Glutamic Acid(DB00142)						317	308	311					17																	42085837		2203	4300	6503	SO:0001819	synonymous_variant	162417				arginine biosynthetic process|urea cycle	mitochondrial matrix	acetyl-CoA:L-glutamate N-acetyltransferase activity	g.chr17:42085837C>T	AY116537	CCDS11473.1	17q21.31	2008-02-05				ENSG00000161653			17996	protein-coding gene	gene with protein product		608300				15050968, 12459178	Standard	NM_153006		Approved	AGAS, ARGA, NAT7	uc002ies.3	Q8N159		ENST00000293404.3:c.1473C>T	17.37:g.42085837C>T							p.G491G	NM_153006.2	NP_694551.1	Q8N159	NAGS_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.113)	7	1591	+		Breast(137;0.00536)|Prostate(33;0.0724)	491			N-acetyltransferase.		B2RAZ9|Q8IWR4	Silent	SNP	ENST00000293404.3	37	c.1473C>T	CCDS11473.1																																																																																				0.498	NAGS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457660.1	NM_153006		27	320	0	0	0	1	0	27	320					T	42085837	C	T	42085837	2	4	70	1	0	0	0	0	0	0	0	1	10145	697	25	3		3	NAGS	17	42085837	Silent	SNP	C	TCGA-EJ-5524-01A-01D-1576-08	3293083	42085837	39109373	42	3656											
DDX42	11325	broad.mit.edu	37	chr17	61864525	61864525	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acagcagtcccacagtgcctTtggggcaaccagctcttctt	8	10	9	14	0	2	0	0	0	2	0	3	0	3	0	3	2	4	3	3	2	1	3			TCGA-EJ-5524-01A-01D-1576-08	TCGA-EJ-5524-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb32ee2b-3ed2-4a8b-a7ed-89ef4bef7661	75bec014-53c0-49e0-88d8-fcd261d22ec1	g.chr17:61864525T>C	ENST00000578681.1	+	3	717	c.116T>C	c.(115-117)tTt>tCt	p.F39S	DDX42_ENST00000583590.1_Missense_Mutation_p.F39S|DDX42_ENST00000359353.5_Intron|DDX42_ENST00000389924.2_Missense_Mutation_p.F39S|DDX42_ENST00000457800.2_Missense_Mutation_p.F39S	NM_007372.2	NP_031398.2	Q86XP3	DDX42_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 42	39					protein localization (GO:0008104)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)	p.F39S(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)	46						CACAGTGCCTTTGGGGCAACC	0.502																																						ENST00000578681.1																			1	Substitution - Missense(1)	p.F39S(1)	prostate(1)	NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)	46						c.(115-117)tTt>tCt		DEAD (Asp-Glu-Ala-Asp) box helicase 42							126	121	123					17																	61864525		2203	4300	6503	SO:0001583	missense	11325				protein localization|regulation of anti-apoptosis	Cajal body|cytoplasm|nuclear speck	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding	g.chr17:61864525T>C	BC015505	CCDS32704.1	17q23	2014-02-14	2013-05-13			ENSG00000198231		"DEAD-boxes"	18676	protein-coding gene	gene with protein product	"splicing factor 3b, subunit 8"	613369	"DEAD (Asp-Glu-Ala-Asp) box polypeptide 42"			10727850, 16397294	Standard	NM_007372		Approved	RNAHP, RHELP, SF3b125, SF3B8	uc002jbv.3	Q86XP3		ENST00000578681.1:c.116T>C	17.37:g.61864525T>C	ENSP00000464050:p.Phe39Ser					DDX42_ENST00000389924.2_Missense_Mutation_p.F39S|DDX42_ENST00000359353.5_Intron|DDX42_ENST00000583590.1_Missense_Mutation_p.F39S|DDX42_ENST00000457800.2_Missense_Mutation_p.F39S	p.F39S	NM_007372.2	NP_031398.2	Q86XP3	DDX42_HUMAN			3	717	+			39					A6NML1|A8KA43|O75619|Q68G51|Q96BK1|Q96HR7|Q9Y3V8	Missense_Mutation	SNP	ENST00000578681.1	37	c.116T>C	CCDS32704.1	.	.	.	.	.	.	.	.	.	.	T	21.6	4.174005	0.78452	.	.	ENSG00000198231	ENST00000389924;ENST00000457800	T;T	0.20738	2.05;2.05	5.57	5.57	0.84162	.	0.901057	0.09784	N	0.756306	T	0.21921	0.0528	L	0.50333	1.59	0.80722	D	1	P	0.48911	0.917	B	0.41135	0.348	T	0.10200	-1.0640	10	0.08381	T	0.77	-11.5982	14.9045	0.70709	0.0:0.0:0.0:1.0	.	39	Q86XP3	DDX42_HUMAN	S	39	ENSP00000374574:F39S;ENSP00000390121:F39S	ENSP00000374574:F39S	F	+	2	0	DDX42	59218257	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.967000	0.87967	2.107000	0.64212	0.454000	0.30748	TTT		0.502	DDX42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444368.1	NM_007372		15	222	0	0	0	1	0	15	222					C	61864525	T	C	61864525	3	2	70	1	0	0	0	0	1	0	0	0	4362	1841	64	4	118	4	DDX42	17	61864525	Missense_Mutation	SNP	T	TCGA-EJ-5524-01A-01D-1576-08	19778688	61864525	19330685	43	3657											
RECQL5	9400	broad.mit.edu	37	chr17	73627745	73627745	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ttggcaatggcggcatggcgGcacctggagcaggcagcacc	8	5	16	12	2	0	0	0	0	0	0	0	1	0	1	2	7	2	6	2	7	1	1			TCGA-EJ-5524-01A-01D-1576-08	TCGA-EJ-5524-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb32ee2b-3ed2-4a8b-a7ed-89ef4bef7661	75bec014-53c0-49e0-88d8-fcd261d22ec1	g.chr17:73627745G>A	ENST00000317905.5	-	9	1392	c.1233C>T	c.(1231-1233)tgC>tgT	p.C411C	SMIM5_ENST00000375215.3_5'Flank|RECQL5_ENST00000443199.2_5'UTR|RECQL5_ENST00000423245.2_Silent_p.C384C	NM_004259.6	NP_004250.4	O94762	RECQ5_HUMAN	RecQ protein-like 5	411					chromosome separation (GO:0051304)|DNA duplex unwinding (GO:0032508)|DNA metabolic process (GO:0006259)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|mitotic nuclear division (GO:0007067)|negative regulation of transcription elongation from RNA polymerase II promoter (GO:0034244)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|DNA helicase activity (GO:0003678)|nucleic acid binding (GO:0003676)|RNA polymerase II core binding (GO:0000993)	p.C384C(1)		breast(1)|cervix(3)|endometrium(3)|kidney(7)|large_intestine(7)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	36	all_cancers(13;2.73e-08)|Breast(9;6.04e-09)|all_epithelial(9;6.79e-09)		all cancers(21;1.15e-06)|Epithelial(20;2.19e-06)|Lung(188;0.101)|LUSC - Lung squamous cell carcinoma(166;0.112)			CGGCATGGCGGCACCTGGAGC	0.692								Other identified genes with known or suspected DNA repair function																														ENST00000317905.5																			1	Substitution - coding silent(1)	p.C384C(1)	prostate(1)	breast(1)|cervix(3)|endometrium(3)|kidney(7)|large_intestine(7)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	36						c.(1231-1233)tgC>tgT	Other identified genes with known or suspected DNA repair function	RecQ protein-like 5							19	23	22					17																	73627745		2161	4248	6409	SO:0001819	synonymous_variant	9400				DNA recombination|DNA repair	cytoplasm|nuclear membrane|nucleolus|nucleoplasm	ATP binding|ATP-dependent helicase activity|DNA helicase activity|nucleic acid binding	g.chr17:73627745G>A	AB006533	CCDS32735.1, CCDS42380.1, CCDS45777.1	17q25	2014-03-07	2014-03-07	2014-03-07	ENSG00000108469	ENSG00000108469			9950	protein-coding gene	gene with protein product	"RecQ protein 5"	603781				9878247	Standard	NM_004259		Approved	RecQ5, FLJ90603	uc010dgl.3	O94762		ENST00000317905.5:c.1233C>T	17.37:g.73627745G>A						RECQL5_ENST00000423245.2_Silent_p.C384C|RECQL5_ENST00000443199.2_5'UTR	p.C411C	NM_004259.6	NP_004250.4	O94762	RECQ5_HUMAN	all cancers(21;1.15e-06)|Epithelial(20;2.19e-06)|Lung(188;0.101)|LUSC - Lung squamous cell carcinoma(166;0.112)		9	1392	-	all_cancers(13;2.73e-08)|Breast(9;6.04e-09)|all_epithelial(9;6.79e-09)		411					Q9H0B1|Q9P1W7|Q9UNC8	Silent	SNP	ENST00000317905.5	37	c.1233C>T	CCDS42380.1																																																																																				0.692	RECQL5-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448207.1	NM_004259		3	38	0	0	0	1	0	3	38					A	73627745	G	A	73627745	2	1	70	1	0	0	0	0	0	0	0	1	13203	1195	42	3		3	RECQL5	17	73627745	Silent	SNP	G	TCGA-EJ-5524-01A-01D-1576-08	11763220	73627745	7567465	44	3658											
WDR7	23335	broad.mit.edu	37	chr18	54591238	54591238	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cgaagaacagccattgatctGattggacgtgggttcactgt	10	11	12	8	2	2	3	1	2	1	1	2	5	2	4	1	2	2	1	1	2	2	3	rs149456946	byFrequency	TCGA-EJ-5524-01A-01D-1576-08	TCGA-EJ-5524-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb32ee2b-3ed2-4a8b-a7ed-89ef4bef7661	75bec014-53c0-49e0-88d8-fcd261d22ec1	g.chr18:54591238G>A	ENST00000254442.3	+	22	3823	c.3612G>A	c.(3610-3612)ctG>ctA	p.L1204L	WDR7_ENST00000357574.3_Silent_p.L1171L|WDR7_ENST00000589935.1_Intron	NM_015285.2	NP_056100.2	Q9Y4E6	WDR7_HUMAN	WD repeat domain 7	1204					hematopoietic progenitor cell differentiation (GO:0002244)			p.L1204L(1)		NS(1)|breast(5)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(37)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	78				Lung(128;0.0238)|Colorectal(16;0.0296)		CCATTGATCTGATTGGACGTG	0.498																																						ENST00000254442.3																			1	Substitution - coding silent(1)	p.L1204L(1)	prostate(1)	NS(1)|breast(5)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(37)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	78						c.(3610-3612)ctG>ctA		WD repeat domain 7							172	143	153					18																	54591238		2203	4300	6503	SO:0001819	synonymous_variant	23335							g.chr18:54591238G>A	AB011113	CCDS11962.1, CCDS11963.1	18q21.31	2013-01-09			ENSG00000091157	ENSG00000091157		"WD repeat domain containing"	13490	protein-coding gene	gene with protein product		613473				10828621	Standard	XM_005266674		Approved	KIAA0541, TRAG	uc002lgk.1	Q9Y4E6	OTTHUMG00000132721	ENST00000254442.3:c.3612G>A	18.37:g.54591238G>A						WDR7_ENST00000357574.3_Silent_p.L1171L|WDR7_ENST00000589935.1_Intron	p.L1204L	NM_015285.2	NP_056100.2	Q9Y4E6	WDR7_HUMAN		Lung(128;0.0238)|Colorectal(16;0.0296)	22	3823	+			1204					A7E2C8|Q86UX5|Q86VP2|Q96PS7	Silent	SNP	ENST00000254442.3	37	c.3612G>A	CCDS11962.1																																																																																				0.498	WDR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256062.1			10	122	0	0	0	1	0	10	122					A	54591238	G	A	54591238	2	1	70	1	0	0	0	0	0	0	0	1	17317	1277	45	3		3	WDR7	18	54591238	Silent	SNP	G	TCGA-EJ-5524-01A-01D-1576-08		54591238	23486010	45	3659											
MUC16	94025	broad.mit.edu	37	chr19	9056757	9056757	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tagatggagaagcattaaagGgggtgattatgtccactgga	13	10	14	4	0	0	3	0	1	0	2	1	5	1	4	1	4	1	1	1	4	5	3			TCGA-EJ-5524-01A-01D-1576-08	TCGA-EJ-5524-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb32ee2b-3ed2-4a8b-a7ed-89ef4bef7661	75bec014-53c0-49e0-88d8-fcd261d22ec1	g.chr19:9056757G>T	ENST00000397910.4	-	3	30892	c.30689C>A	c.(30688-30690)cCc>cAc	p.P10230H		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	10232	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)		p.P5863H(1)|p.P10230H(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AGCATTAAAGGGGGTGATTAT	0.448																																						ENST00000397910.4																			2	Substitution - Missense(2)	p.P5863H(1)|p.P10230H(1)	prostate(2)	NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(30688-30690)cCc>cAc		mucin 16, cell surface associated							90	89	90					19																	9056757		1908	4136	6044	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9056757G>T	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.30689C>A	19.37:g.9056757G>T	ENSP00000381008:p.Pro10230His						p.P10230H	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			3	30892	-			10232			Ser-rich.|Thr-rich.		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.30689C>A	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	g	7.784	0.710095	0.15239	.	.	ENSG00000181143	ENST00000397910	T	0.03301	3.98	3.24	-2.13	0.07144	.	.	.	.	.	T	0.01730	0.0055	N	0.08118	0	.	.	.	B	0.14438	0.01	B	0.10450	0.005	T	0.46884	-0.9159	8	0.87932	D	0	.	0.2379	0.00188	0.3589:0.1401:0.2138:0.2872	.	10230	B5ME49	.	H	10230	ENSP00000381008:P10230H	ENSP00000381008:P10230H	P	-	2	0	MUC16	8917757	0.000000	0.05858	0.000000	0.03702	0.333000	0.28666	-3.014000	0.00646	-0.492000	0.06687	0.467000	0.42956	CCC		0.448	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		10	94	1	0	7.48243e-07	1	7.74044e-07	10	94					T	9056757	G	T	9056757	3	4	70	1	0	0	0	0	1	0	0	0	9973	1232	43	5	13162	5	MUC16	19	9056757	Missense_Mutation	SNP	G	TCGA-EJ-5524-01A-01D-1576-08		9056757	50072226	46	3660											
ZNF99	7652	broad.mit.edu	37	chr19	22940066	22940066	+	IGR	DEL	A	A	-																															ctaagggttgaggaattgttAaaagctttgccacattcttc																								rs375870113		TCGA-EJ-5524-01A-01D-1576-08	TCGA-EJ-5524-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb32ee2b-3ed2-4a8b-a7ed-89ef4bef7661	75bec014-53c0-49e0-88d8-fcd261d22ec1	g.chr19:22940066delA	ENST00000596209.1	-	0	2686				CTC-451A6.4_ENST00000442497.2_lincRNA|ZNF99_ENST00000397104.3_Frame_Shift_Del_p.F755fs	NM_001080409.2	NP_001073878.2	A8MXY4	ZNF99_HUMAN	zinc finger protein 99						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				AGGAATTGTTAAAAGCTTTGC	0.358																																						ENST00000397104.3																			0				NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124						c.(2263-2265)ttfs		zinc finger protein 99							42	48	46					19																	22940066		2042	4212	6254	SO:0001628	intergenic_variant	7652							g.chr19:22940066delA	BC021822	CCDS59369.1	19p12	2013-01-08	2006-01-17		ENSG00000213973	ENSG00000213973		"Zinc fingers, C2H2-type", "-"	13175	protein-coding gene	gene with protein product		603981	"zinc finger protein 99 (F8281)", "chromosome 19 open reading frame 9"	C19orf9			Standard	NM_001080409		Approved	MGC24986	uc021urt.1	A8MXY4			19.37:g.22940066delA							p.F755fs							6	2264	-		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)						M0R335	Frame_Shift_Del	DEL	ENST00000596209.1	37	c.2265delT	CCDS59369.1																																																																																				0.358	ZNF99-001	NOVEL	not_best_in_genome_evidence|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000464591.1	XM_065124		31	156						31	156	---	---	---	---	-	22940066	A	-	22940066	6	5	70	0	1	1	0	1	0	0	0	0	18201	359	13	0		0	ZNF99	19	22940066	IGR	DEL	A	TCGA-EJ-5524-01A-01D-1576-08	13883309	22940066	36188917	47	3661											
FPR1	2357	broad.mit.edu	37	chr19	52249334	52249334	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gcctctcccggaagtcctggCccatgaagacatagagcatg	10	7	11	13	1	1	3	0	1	1	2	3	4	2	4	4	2	1	1	4	2	3	1			TCGA-EJ-5524-01A-01D-1576-08	TCGA-EJ-5524-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb32ee2b-3ed2-4a8b-a7ed-89ef4bef7661	75bec014-53c0-49e0-88d8-fcd261d22ec1	g.chr19:52249334C>A	ENST00000595042.1	-	3	1055	c.914G>T	c.(913-915)gGc>gTc	p.G305V	FPR1_ENST00000304748.4_Missense_Mutation_p.G305V	NM_001193306.1	NP_001180235.1	P21462	FPR1_HUMAN	formyl peptide receptor 1	305					activation of MAPK activity (GO:0000187)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cellular component movement (GO:0006928)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|nitric oxide mediated signal transduction (GO:0007263)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|signal transduction (GO:0007165)	endosome (GO:0005768)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	N-formyl peptide receptor activity (GO:0004982)|receptor activity (GO:0004872)	p.G305V(1)		endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(3)	20		all_neural(266;0.0189)|Medulloblastoma(540;0.146)		GBM - Glioblastoma multiforme(134;0.00106)|OV - Ovarian serous cystadenocarcinoma(262;0.018)	Nedocromil(DB00716)	GAAGTCCTGGCCCATGAAGAC	0.547																																						ENST00000595042.1																			1	Substitution - Missense(1)	p.G305V(1)	prostate(1)	endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(3)	20						c.(913-915)gGc>gTc		formyl peptide receptor 1	Nedocromil(DB00716)						121	105	110					19																	52249334		2203	4300	6503	SO:0001583	missense	2357				activation of MAPK activity|cellular component movement|chemotaxis|G-protein signaling, coupled to cAMP nucleotide second messenger|nitric oxide mediated signal transduction	endosome|integral to membrane|plasma membrane	N-formyl peptide receptor activity	g.chr19:52249334C>A	M60627	CCDS12839.1	19q13.41	2014-09-17				ENSG00000171051		"GPCR / Class A : Formyl peptide receptors"	3826	protein-coding gene	gene with protein product		136537				2161213, 12595898	Standard	NM_001193306		Approved	FPR, FMLP	uc002pxq.3	P21462		ENST00000595042.1:c.914G>T	19.37:g.52249334C>A	ENSP00000471493:p.Gly305Val					FPR1_ENST00000304748.4_Missense_Mutation_p.G305V	p.G305V	NM_001193306.1	NP_001180235.1	P21462	FPR1_HUMAN		GBM - Glioblastoma multiforme(134;0.00106)|OV - Ovarian serous cystadenocarcinoma(262;0.018)	3	1055	-		all_neural(266;0.0189)|Medulloblastoma(540;0.146)	305					Q14939|Q7Z6A4|Q86U52|Q9NS48	Missense_Mutation	SNP	ENST00000595042.1	37	c.914G>T	CCDS12839.1	.	.	.	.	.	.	.	.	.	.	.	20.8	4.050256	0.75846	.	.	ENSG00000171051	ENST00000304748	T	0.27890	1.64	3.55	3.55	0.40652	.	0.000000	0.64402	D	0.000003	T	0.59797	0.2220	M	0.90309	3.105	0.80722	D	1	D	0.59357	0.985	D	0.66847	0.947	T	0.70396	-0.4883	10	0.87932	D	0	.	13.4069	0.60919	0.0:1.0:0.0:0.0	.	305	P21462	FPR1_HUMAN	V	305	ENSP00000302707:G305V	ENSP00000302707:G305V	G	-	2	0	FPR1	56941146	1.000000	0.71417	0.998000	0.56505	0.925000	0.55904	5.408000	0.66368	1.907000	0.55213	0.650000	0.86243	GGC		0.547	FPR1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466905.1	NM_002029		26	86	1	0	7.92952e-12	1	8.81058e-12	26	86					A	52249334	C	A	52249334	3	1	70	1	0	0	0	0	1	0	0	0	6038	739	26	5	142	5	FPR1	19	52249334	Missense_Mutation	SNP	C	TCGA-EJ-5524-01A-01D-1576-08	29309268	52249334	6879649	48	3662											
MX2	4600	broad.mit.edu	37	chr21	42762561	42762561	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggtggtggttccctgtaacGtggacattgccaccacggag	7	10	14	10	2	0	0	0	0	0	0	1	2	1	2	3	5	2	2	3	5	1	3			TCGA-EJ-5524-01A-01D-1576-08	TCGA-EJ-5524-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb32ee2b-3ed2-4a8b-a7ed-89ef4bef7661	75bec014-53c0-49e0-88d8-fcd261d22ec1	g.chr21:42762561G>A	ENST00000330714.3	+	6	986	c.802G>A	c.(802-804)Gtg>Atg	p.V268M	MX2_ENST00000543692.1_Intron	NM_002463.1	NP_002454.1	P20592	MX2_HUMAN	MX dynamin-like GTPase 2	268	Dynamin-type G.				cytokine-mediated signaling pathway (GO:0019221)|defense response (GO:0006952)|defense response to virus (GO:0051607)|GTP catabolic process (GO:0006184)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of cell cycle (GO:0051726)|regulation of nucleocytoplasmic transport (GO:0046822)|response to interferon-alpha (GO:0035455)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)	p.V268M(1)		breast(2)|endometrium(3)|large_intestine(6)|lung(12)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	34		Prostate(19;1.57e-07)|all_epithelial(19;0.0222)				TCCCTGTAACGTGGACATTGC	0.557																																						ENST00000330714.3																			1	Substitution - Missense(1)	p.V268M(1)	prostate(1)	breast(2)|endometrium(3)|large_intestine(6)|lung(12)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	34						c.(802-804)Gtg>Atg		myxovirus (influenza virus) resistance 2 (mouse)							208	164	179					21																	42762561		2203	4300	6503	SO:0001583	missense	4600				response to virus|type I interferon-mediated signaling pathway	cytoplasm|nucleus	GTP binding|GTPase activity	g.chr21:42762561G>A		CCDS13672.1	21q22.3	2014-07-15	2014-07-15		ENSG00000183486	ENSG00000183486			7533	protein-coding gene	gene with protein product	"interferon-regulated resistance GTP-binding protein MXB", "second interferon-induced protein p78"	147890	"myxovirus (influenza) resistance 2, homolog of murine", "myxovirus (influenza virus) resistance 2 (mouse)"			2481229, 8798556	Standard	NM_002463		Approved	MXB	uc002yzf.1	P20592	OTTHUMG00000086753	ENST00000330714.3:c.802G>A	21.37:g.42762561G>A	ENSP00000333657:p.Val268Met					MX2_ENST00000543692.1_Intron	p.V268M	NM_002463.1	NP_002454.1	P20592	MX2_HUMAN			6	986	+		Prostate(19;1.57e-07)|all_epithelial(19;0.0222)	268					B7Z5D3|D3DSI7	Missense_Mutation	SNP	ENST00000330714.3	37	c.802G>A	CCDS13672.1	.	.	.	.	.	.	.	.	.	.	G	18.24	3.580079	0.65992	.	.	ENSG00000183486	ENST00000330714	D	0.97066	-4.23	3.92	2.07	0.26955	Dynamin, GTPase domain (2);	0.071683	0.56097	N	0.000038	D	0.98277	0.9429	M	0.89840	3.065	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97662	1.0161	10	0.62326	D	0.03	-17.992	9.399	0.38420	0.1854:0.0:0.8146:0.0	.	268	P20592	MX2_HUMAN	M	268	ENSP00000333657:V268M	ENSP00000333657:V268M	V	+	1	0	MX2	41684431	1.000000	0.71417	0.941000	0.38009	0.952000	0.60782	3.873000	0.56093	0.389000	0.25086	-0.157000	0.13467	GTG		0.557	MX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195147.1	NM_002463		78	78	0	0	0	1	0	78	78					A	42762561	G	A	42762561	3	1	70	1	0	0	0	0	1	0	0	0	9998	1145	40	1	820	1	MX2	21	42762561	Missense_Mutation	SNP	G	TCGA-EJ-5524-01A-01D-1576-08		42762561	5367334	49	3663											
GPR112	139378	broad.mit.edu	37	chrX	135431329	135431329	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	atacccctgtttcataccctCcatggaccccatccagtgca	9	10	5	17	0	1	0	1	0	0	0	3	1	3	1	7	1	3	2	7	1	2	3			TCGA-EJ-5524-01A-01D-1576-08	TCGA-EJ-5524-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb32ee2b-3ed2-4a8b-a7ed-89ef4bef7661	75bec014-53c0-49e0-88d8-fcd261d22ec1	g.chrX:135431329C>A	ENST00000394143.1	+	6	5755	c.5464C>A	c.(5464-5466)Cca>Aca	p.P1822T	GPR112_ENST00000412101.1_Missense_Mutation_p.P1617T|GPR112_ENST00000394141.1_Missense_Mutation_p.P1617T|GPR112_ENST00000287534.4_Missense_Mutation_p.P1759T|GPR112_ENST00000370652.1_Missense_Mutation_p.P1822T	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	1822					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.P1822T(1)		NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					TTCATACCCTCCATGGACCCC	0.408																																						ENST00000394143.1																			1	Substitution - Missense(1)	p.P1822T(1)	prostate(1)	NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199						c.(5464-5466)Cca>Aca		G protein-coupled receptor 112							139	127	131					X																	135431329		2203	4300	6503	SO:0001583	missense	139378				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chrX:135431329C>A	AY140954	CCDS35409.1	Xq26.3	2014-08-08			ENSG00000156920	ENSG00000156920		"-", "GPCR / Class B : Orphans"	18992	protein-coding gene	gene with protein product						12435584	Standard	XM_005262367		Approved	RP1-299I16, PGR17	uc004ezu.1	Q8IZF6	OTTHUMG00000022508	ENST00000394143.1:c.5464C>A	X.37:g.135431329C>A	ENSP00000377699:p.Pro1822Thr					GPR112_ENST00000370652.1_Missense_Mutation_p.P1822T|GPR112_ENST00000412101.1_Missense_Mutation_p.P1617T|GPR112_ENST00000287534.4_Missense_Mutation_p.P1759T|GPR112_ENST00000394141.1_Missense_Mutation_p.P1617T	p.P1822T	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN			6	5755	+	Acute lymphoblastic leukemia(192;0.000127)		1822					A2A2J1|A2A2J2|Q5EGP2|Q86SM6	Missense_Mutation	SNP	ENST00000394143.1	37	c.5464C>A	CCDS35409.1	.	.	.	.	.	.	.	.	.	.	c	2.137	-0.397754	0.04899	.	.	ENSG00000156920	ENST00000394143;ENST00000370652;ENST00000412101;ENST00000287534;ENST00000394141	T;T;T;T;T	0.27104	1.72;1.72;1.69;1.83;1.69	3.71	-2.15	0.07102	.	.	.	.	.	T	0.12475	0.0303	N	0.24115	0.695	0.09310	N	1	B;B;B	0.25312	0.123;0.103;0.063	B;B;B	0.25140	0.042;0.058;0.026	T	0.32824	-0.9892	9	0.23302	T	0.38	.	2.6312	0.04945	0.3648:0.2418:0.0:0.3934	.	1759;1617;1822	Q8IZF6-2;Q8IZF6-3;Q8IZF6	.;.;GP112_HUMAN	T	1822;1822;1617;1759;1617	ENSP00000377699:P1822T;ENSP00000359686:P1822T;ENSP00000416526:P1617T;ENSP00000287534:P1759T;ENSP00000377697:P1617T	ENSP00000287534:P1759T	P	+	1	0	GPR112	135258995	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-1.287000	0.02785	-0.215000	0.10063	-0.369000	0.07265	CCA		0.408	GPR112-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000286639.1			15	143	1	0	2.32078e-09	1	2.44293e-09	15	143					A	135431329	C	A	135431329	3	1	70	1	0	0	0	0	1	0	0	0	6629	855	30	5	5474	5	GPR112	23	135431329	Missense_Mutation	SNP	C	TCGA-EJ-5524-01A-01D-1576-08		135431329	19839231	50	3664											
ATG4C	84938	broad.mit.edu	37	chr1	63307165	63307165	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atcccagctgtacaataggaTtttactgtcgaaatgttcag	12	13	8	8	1	1	0	1	0	0	0	3	2	2	1	1	1	3	3	1	1	5	5			TCGA-EJ-5525-01A-01D-1576-08	TCGA-EJ-5525-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3953b74a-6ac2-443c-9c61-be6894c76d92	800eb17e-206d-461a-8dad-15d3a09dfb9a	g.chr1:63307165T>C	ENST00000317868.4	+	10	1363	c.1156T>C	c.(1156-1158)Ttt>Ctt	p.F386L	ATG4C_ENST00000371120.3_Missense_Mutation_p.F386L	NM_032852.3	NP_116241.2	Q96DT6	ATG4C_HUMAN	autophagy related 4C, cysteine peptidase	386					autophagic vacuole assembly (GO:0000045)|autophagy (GO:0006914)|protein targeting to membrane (GO:0006612)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)	cysteine-type endopeptidase activity (GO:0004197)|peptidase activity (GO:0008233)	p.F386L(2)	ATG4C/FBXO38(2)	NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(3)|ovary(1)|prostate(2)	19						TACAATAGGATTTTACTGTCG	0.303																																						ENST00000317868.4																		ATG4C/FBXO38(2)	2	Substitution - Missense(2)	p.F386L(2)	prostate(2)	NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(3)|ovary(1)|prostate(2)	19						c.(1156-1158)Ttt>Ctt		autophagy related 4C, cysteine peptidase							59	61	60					1																	63307165		2202	4299	6501	SO:0001583	missense	84938				autophagic vacuole assembly|protein targeting to membrane|proteolysis	cytosol|extracellular region	cysteine-type endopeptidase activity	g.chr1:63307165T>C	AK027773	CCDS623.1	1p31.3	2014-02-12	2012-06-06	2005-09-11	ENSG00000125703	ENSG00000125703			16040	protein-coding gene	gene with protein product		611339	"AUT (S. cerevisiae)-like 1, cysteine endopeptidase; AUT-like 1, cysteine endopeptidase (S. cerevisiae)", "APG4 autophagy 4 homolog C (S. cerevisiae)", "ATG4 autophagy related 4 homolog C (S. cerevisiae)"	AUTL1, APG4C		12446702	Standard	NM_032852		Approved	FLJ14867, AUTL3	uc001dau.3	Q96DT6	OTTHUMG00000009142	ENST00000317868.4:c.1156T>C	1.37:g.63307165T>C	ENSP00000322159:p.Phe386Leu					ATG4C_ENST00000371120.3_Missense_Mutation_p.F386L	p.F386L	NM_032852.3	NP_116241.2	Q96DT6	ATG4C_HUMAN			10	1363	+			386					A6NLR8|D3DQ58|Q96K04	Missense_Mutation	SNP	ENST00000317868.4	37	c.1156T>C	CCDS623.1	.	.	.	.	.	.	.	.	.	.	T	25.9	4.682371	0.88542	.	.	ENSG00000125703	ENST00000317868;ENST00000371120;ENST00000540025	T;T	0.66815	-0.23;-0.23	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	T	0.72391	0.3454	M	0.81942	2.565	0.80722	D	1	B	0.31581	0.329	P	0.46975	0.533	T	0.75453	-0.3312	10	0.54805	T	0.06	-9.7203	15.7542	0.78011	0.0:0.0:0.0:1.0	.	386	Q96DT6	ATG4C_HUMAN	L	386	ENSP00000322159:F386L;ENSP00000360161:F386L	ENSP00000322159:F386L	F	+	1	0	ATG4C	63079753	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.698000	0.84413	2.116000	0.64780	0.477000	0.44152	TTT		0.303	ATG4C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025332.2	NM_032852		4	137	0	0	0	0.184627	0	4	137					C	63307165	T	C	63307165	3	2	71	1	0	0	0	0	1	0	0	0	1098	1493	52	4	1190	4	ATG4C	1	63307165	Missense_Mutation	SNP	T	TCGA-EJ-5525-01A-01D-1576-08		63307165	185943456	1	3665											
DEPDC1	55635	broad.mit.edu	37	chr1	68947728	68947728	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cattgaaagcaacagccttaCtttgtgtgccagtcaacata	13	11	7	10	0	1	1	1	1	0	0	1	1	1	1	2	0	6	1	2	0	5	4			TCGA-EJ-5525-01A-01D-1576-08	TCGA-EJ-5525-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3953b74a-6ac2-443c-9c61-be6894c76d92	800eb17e-206d-461a-8dad-15d3a09dfb9a	g.chr1:68947728C>A	ENST00000456315.2	-	8	1877		c.e8+1		DEPDC1_ENST00000370966.5_Intron|RP4-694A7.2_ENST00000425820.1_RNA	NM_001114120.1	NP_001107592.1	Q5TB30	DEP1A_HUMAN	DEP domain containing 1						intracellular signal transduction (GO:0035556)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	GTPase activator activity (GO:0005096)	p.?(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	13				OV - Ovarian serous cystadenocarcinoma(397;7.21e-36)		AACAGCCTTACTTTGTGTGCC	0.353																																						ENST00000456315.2																			1	Unknown(1)	p.?(1)	prostate(1)	endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	13						c.e8+1		DEP domain containing 1							64	60	61					1																	68947728		1568	3581	5149	SO:0001630	splice_region_variant	55635				intracellular signal transduction|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	transcriptional repressor complex	GTPase activator activity|protein binding	g.chr1:68947728C>A	AK000361	CCDS644.1, CCDS44159.1	1p31.2	2008-08-19			ENSG00000024526	ENSG00000024526			22949	protein-coding gene	gene with protein product		612002					Standard	NM_001114120		Approved	DEP.8, FLJ20354, SDP35, DEPDC1A	uc001dem.4	Q5TB30	OTTHUMG00000009212	ENST00000456315.2:c.1762+1G>T	1.37:g.68947728C>A						RP4-694A7.2_ENST00000425820.1_RNA|DEPDC1_ENST00000370966.5_Intron		NM_001114120.1	NP_001107592.1	Q5TB30	DEP1A_HUMAN		OV - Ovarian serous cystadenocarcinoma(397;7.21e-36)	8	1877	-								A8QXE0|A8QXE1|Q05DU3|Q5TB28|Q9H9I3|Q9NX21|Q9NXZ0	Splice_Site	SNP	ENST00000456315.2	37		CCDS44159.1	.	.	.	.	.	.	.	.	.	.	C	16.67	3.188727	0.57909	.	.	ENSG00000024526	ENST00000456315	.	.	.	5.62	5.62	0.85841	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.6613	0.95875	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	DEPDC1	68720316	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.998000	0.57024	2.639000	0.89480	0.650000	0.86243	.		0.353	DEPDC1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000025514.2	NM_017779	Intron	87	111	1	0	1.5608e-48	0.870114	1.82407e-48	87	111					A	68947728	C	A	68947728	5	1	71	1	0	0	0	0	0	0	1	0	4439	579	20	5	692	5	DEPDC1	1	68947728	Splice_Site	SNP	C	TCGA-EJ-5525-01A-01D-1576-08	5640563	68947728	180302893	2	3666											
DNASE2B	58511	broad.mit.edu	37	chr1	84867590	84867590	+	Frame_Shift_Del	DEL	T	T	-																															attttgtctgttaggtttacTttttataagttacctaaaag																										TCGA-EJ-5525-01A-01D-1576-08	TCGA-EJ-5525-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3953b74a-6ac2-443c-9c61-be6894c76d92	800eb17e-206d-461a-8dad-15d3a09dfb9a	g.chr1:84867590delT	ENST00000370665.3	+	2	165	c.132delT	c.(130-132)actfs	p.T44fs		NM_021233.2	NP_067056.2	Q8WZ79	DNS2B_HUMAN	deoxyribonuclease II beta	44					apoptotic DNA fragmentation (GO:0006309)	extracellular region (GO:0005576)|intracellular (GO:0005622)|lysosome (GO:0005764)	deoxyribonuclease II activity (GO:0004531)			endometrium(1)|lung(4)|skin(1)	6				all cancers(265;0.00303)|Epithelial(280;0.0112)|OV - Ovarian serous cystadenocarcinoma(397;0.0808)		TTAGGTTTACTTTTTATAAGT	0.348																																					Pancreas(54;788 1175 11852 16034 30034)	ENST00000370665.3																			0				endometrium(1)|lung(4)|skin(1)	6						c.(130-132)acfs		deoxyribonuclease II beta							44	43	44					1																	84867590		1823	4060	5883	SO:0001589	frameshift_variant	58511				DNA metabolic process	lysosome	deoxyribonuclease II activity	g.chr1:84867590delT	AF274571	CCDS694.1, CCDS44167.1	1p22.3	2008-02-05			ENSG00000137976	ENSG00000137976			28875	protein-coding gene	gene with protein product		608057				12594037, 11376952	Standard	NM_021233		Approved	DLAD	uc001djt.1	Q8WZ79	OTTHUMG00000009860	ENST00000370665.3:c.132delT	1.37:g.84867590delT	ENSP00000359699:p.Thr44fs						p.T44fs	NM_021233.2	NP_067056.2	Q8WZ79	DNS2B_HUMAN		all cancers(265;0.00303)|Epithelial(280;0.0112)|OV - Ovarian serous cystadenocarcinoma(397;0.0808)	2	165	+			44					Q5VXD0|Q5VXD1|Q8WZ80|Q9NQW3	Frame_Shift_Del	DEL	ENST00000370665.3	37	c.132delT	CCDS44167.1																																																																																				0.348	DNASE2B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000027248.1	NM_021233		4	7						4	7	---	---	---	---	-	84867590	T	-	84867590	7	5	71	1	0	1	0	1	0	0	0	0	4665	1596	56	0	138	0	DNASE2B	1	84867590	Frame_Shift_Del	DEL	T	TCGA-EJ-5525-01A-01D-1576-08	15919862	84867590	164383031	3	3667											
TGFBR3	7049	broad.mit.edu	37	chr1	92185486	92185486	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tctacagccacgatcatcttCtcattgtcacatttgacaga	11	13	5	12	1	5	2	3	1	3	1	6	3	5	2	1	0	2	0	1	0	1	4			TCGA-EJ-5525-01A-01D-1576-08	TCGA-EJ-5525-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3953b74a-6ac2-443c-9c61-be6894c76d92	800eb17e-206d-461a-8dad-15d3a09dfb9a	g.chr1:92185486C>T	ENST00000525962.1	-	8	1438	c.1377G>A	c.(1375-1377)gaG>gaA	p.E459E	TGFBR3_ENST00000212355.4_Silent_p.E459E|TGFBR3_ENST00000370399.2_Silent_p.E458E			Q03167	TGBR3_HUMAN	transforming growth factor, beta receptor III	459	ZP. {ECO:0000255|PROSITE- ProRule:PRU00375}.				blastocyst development (GO:0001824)|blood vessel development (GO:0001568)|BMP signaling pathway (GO:0030509)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac muscle cell proliferation (GO:0060038)|cell growth (GO:0016049)|cell migration (GO:0016477)|definitive erythrocyte differentiation (GO:0060318)|definitive hemopoiesis (GO:0060216)|epithelial to mesenchymal transition (GO:0001837)|heart morphogenesis (GO:0003007)|heart trabecula formation (GO:0060347)|immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|liver development (GO:0001889)|negative regulation of cellular component movement (GO:0051271)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|organ regeneration (GO:0031100)|palate development (GO:0060021)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of protein binding (GO:0043393)|response to follicle-stimulating hormone (GO:0032354)|response to hypoxia (GO:0001666)|response to luteinizing hormone (GO:0034699)|response to prostaglandin E (GO:0034695)|transforming growth factor beta receptor complex assembly (GO:0007181)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|inhibin-betaglycan-ActRII complex (GO:0034673)|integral component of plasma membrane (GO:0005887)|proteinaceous extracellular matrix (GO:0005578)	coreceptor activity (GO:0015026)|glycosaminoglycan binding (GO:0005539)|heparin binding (GO:0008201)|PDZ domain binding (GO:0030165)|SMAD binding (GO:0046332)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta receptor activity, type III (GO:0070123)|transforming growth factor beta receptor binding (GO:0005160)|transforming growth factor beta-activated receptor activity (GO:0005024)|type II transforming growth factor beta receptor binding (GO:0005114)	p.E459E(1)		endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(24)|ovary(3)|prostate(4)|skin(1)|stomach(1)|urinary_tract(3)	55		all_lung(203;0.00719)|Lung NSC(277;0.0268)		all cancers(265;0.0108)|Epithelial(280;0.0825)		CGATCATCTTCTCATTGTCAC	0.502																																						ENST00000212355.4																			1	Substitution - coding silent(1)	p.E459E(1)	prostate(1)	endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(24)|ovary(3)|prostate(4)|skin(1)|stomach(1)|urinary_tract(3)	55						c.(1375-1377)gaG>gaA		transforming growth factor, beta receptor III							154	153	154					1																	92185486		2203	4300	6503	SO:0001819	synonymous_variant	7049				BMP signaling pathway|cardiac epithelial to mesenchymal transition|cardiac muscle cell proliferation|cell growth|cell migration|definitive erythrocyte differentiation|heart trabecula formation|immune response|intracellular protein kinase cascade|liver development|negative regulation of cellular component movement|negative regulation of epithelial cell proliferation|palate development|pathway-restricted SMAD protein phosphorylation|response to follicle-stimulating hormone stimulus|response to luteinizing hormone stimulus|response to prostaglandin E stimulus|transforming growth factor beta receptor signaling pathway|ventricular cardiac muscle tissue morphogenesis	external side of plasma membrane|extracellular space|inhibin-betaglycan-ActRII complex|integral to plasma membrane|intracellular membrane-bounded organelle	coreceptor activity|heparin binding|PDZ domain binding|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type III|type II transforming growth factor beta receptor binding	g.chr1:92185486C>T	L07594	CCDS30770.1, CCDS55614.1	1p33-p32	2008-02-05	2007-02-15		ENSG00000069702	ENSG00000069702		"Proteoglycans / Cell surface : Other"	11774	protein-coding gene	gene with protein product	"betaglycan proteoglycan"	600742	"transforming growth factor, beta receptor III (betaglycan, 300kDa)"			1333192, 1319842	Standard	NM_001195684		Approved	betaglycan, BGCAN	uc001doh.3	Q03167	OTTHUMG00000010097	ENST00000525962.1:c.1377G>A	1.37:g.92185486C>T						TGFBR3_ENST00000370399.2_Silent_p.E458E|TGFBR3_ENST00000525962.1_Silent_p.E459E	p.E459E	NM_001195683.1|NM_003243.4	NP_001182612.1|NP_003234.2	Q03167	TGBR3_HUMAN		all cancers(265;0.0108)|Epithelial(280;0.0825)	9	1842	-		all_lung(203;0.00719)|Lung NSC(277;0.0268)	459			ZP.		A0AUW8|A8K5N0|B9EG88|Q5T2T4|Q5U731|Q9UGI2	Silent	SNP	ENST00000525962.1	37	c.1377G>A	CCDS30770.1																																																																																				0.502	TGFBR3-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382308.1	NM_003243		7	221	0	0	0	0.27861	0	7	221					T	92185486	C	T	92185486	2	4	71	1	0	0	0	0	0	0	0	1	15820	912	32	3		3	TGFBR3	1	92185486	Silent	SNP	C	TCGA-EJ-5525-01A-01D-1576-08	7317896	92185486	157065135	4	3668											
REG4	83998	broad.mit.edu	37	chr1	120342381	120342381	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcaggccaatccatatcggCtggcttctctgatagccact	8	11	9	13	1	1	1	0	1	1	0	4	1	2	1	3	3	2	3	3	3	3	3			TCGA-EJ-5525-01A-01D-1576-08	TCGA-EJ-5525-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3953b74a-6ac2-443c-9c61-be6894c76d92	800eb17e-206d-461a-8dad-15d3a09dfb9a	g.chr1:120342381C>T	ENST00000354219.1	-	5	709	c.270G>A	c.(268-270)caG>caA	p.Q90Q	REG4_ENST00000256585.5_Silent_p.Q90Q|REG4_ENST00000530654.1_Silent_p.Q90Q	NM_001159352.1	NP_001152824.1	Q9BYZ8	REG4_HUMAN	regenerating islet-derived family, member 4	90	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.					cytoplasm (GO:0005737)|extracellular region (GO:0005576)	heparin binding (GO:0008201)|mannan binding (GO:2001065)	p.Q90Q(1)		central_nervous_system(1)|large_intestine(1)|lung(8)|ovary(2)|prostate(1)|skin(2)	15	all_cancers(5;4.81e-10)|all_epithelial(5;7.98e-11)|Melanoma(3;1.93e-05)|Breast(55;0.218)|all_neural(166;0.219)	all_lung(203;8.1e-07)|Lung NSC(69;5.89e-06)|all_epithelial(167;0.000959)		Lung(183;0.011)|LUSC - Lung squamous cell carcinoma(189;0.0588)		TCCATATCGGCTGGCTTCTCT	0.522																																						ENST00000354219.1																			1	Substitution - coding silent(1)	p.Q90Q(1)	prostate(1)	central_nervous_system(1)|large_intestine(1)|lung(8)|ovary(2)|prostate(1)|skin(2)	15						c.(268-270)caG>caA		regenerating islet-derived family, member 4							159	147	151					1																	120342381		2203	4300	6503	SO:0001819	synonymous_variant	83998					extracellular region	sugar binding	g.chr1:120342381C>T	AY007243	CCDS906.1, CCDS53354.1	1p13.1-p12	2008-02-05			ENSG00000134193	ENSG00000134193			22977	protein-coding gene	gene with protein product	"regenerating gene type IV", " gastrointestinal secretory protein"	609846				11311942, 12455032	Standard	NM_032044		Approved	REG-IV, RELP, GISP	uc001eif.3	Q9BYZ8	OTTHUMG00000012175	ENST00000354219.1:c.270G>A	1.37:g.120342381C>T						REG4_ENST00000530654.1_Silent_p.Q90Q|REG4_ENST00000256585.5_Silent_p.Q90Q	p.Q90Q	NM_001159352.1	NP_001152824.1	Q9BYZ8	REG4_HUMAN		Lung(183;0.011)|LUSC - Lung squamous cell carcinoma(189;0.0588)	5	709	-	all_cancers(5;4.81e-10)|all_epithelial(5;7.98e-11)|Melanoma(3;1.93e-05)|Breast(55;0.218)|all_neural(166;0.219)	all_lung(203;8.1e-07)|Lung NSC(69;5.89e-06)|all_epithelial(167;0.000959)	90			C-type lectin.		Q8NER6|Q8NER7	Silent	SNP	ENST00000354219.1	37	c.270G>A	CCDS906.1																																																																																				0.522	REG4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033675.1	NM_032044		20	322	0	0	0	0.592651	0	20	322					T	120342381	C	T	120342381	2	4	71	1	0	0	0	0	0	0	0	1	13214	796	28	3		3	REG4	1	120342381	Silent	SNP	C	TCGA-EJ-5525-01A-01D-1576-08	28156895	120342381	128908240	5	3669											
PDE4DIP	9659	broad.mit.edu	37	chr1	144856960	144856961	+	In_Frame_Ins	INS	-	-	TTT																															caatgacatggcggccatgcINSttattggcaaaggagccatc																										TCGA-EJ-5525-01A-01D-1576-08	TCGA-EJ-5525-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3953b74a-6ac2-443c-9c61-be6894c76d92	800eb17e-206d-461a-8dad-15d3a09dfb9a	g.chr1:144856960_144856961insTTT	ENST00000369354.3	-	40	6713_6714	c.6524_6525insAAA	c.(6523-6525)aag>aaAAAg	p.2175_2175K>KK	PDE4DIP_ENST00000369359.4_In_Frame_Ins_p.2311_2311K>KK|RP4-791M13.4_ENST00000532137.1_RNA|PDE4DIP_ENST00000369356.4_In_Frame_Ins_p.2175_2175K>KK|PDE4DIP_ENST00000313382.9_In_Frame_Ins_p.2069_2069K>KK|PDE4DIP_ENST00000524974.1_5'UTR|PDE4DIP_ENST00000530740.1_In_Frame_Ins_p.2260_2260K>KK			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	2175					cellular protein complex assembly (GO:0043623)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|myofibril (GO:0030016)|nucleus (GO:0005634)	enzyme binding (GO:0019899)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		GGCGGCCATGCTTATTGGCAAA	0.48			T	PDGFRB	MPD																																	ENST00000369359.4				Dom	yes		1	1q12	9659	T	phosphodiesterase 4D interacting protein (myomegalin)			L	PDGFRB		MPD		0				NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176						c.(6931-6933)aca>aAAAca		phosphodiesterase 4D interacting protein																																				SO:0001652	inframe_insertion	9659				cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding	g.chr1:144856960_144856961insTTT	AB007923, AB007946	CCDS72887.1, CCDS72888.1, CCDS72889.1, CCDS72890.1, CCDS72891.1, CCDS72892.1, CCDS72893.1, CCDS72894.1	1q21.1	2008-07-31	2008-07-31		ENSG00000178104	ENSG00000178104			15580	protein-coding gene	gene with protein product	"myomegalin"	608117	"cardiomyopathy associated 2"	CMYA2		9455484, 11134006	Standard	NM_022359		Approved	KIAA0477, KIAA0454, MMGL	uc021ouh.1	Q5VU43	OTTHUMG00000013846	ENST00000369354.3:c.6524_6525insAAA	1.37:g.144856960_144856961insTTT	ENSP00000358360:p.Lys2175dup					PDE4DIP_ENST00000369354.3_In_Frame_Ins_p.2175_2176insK|PDE4DIP_ENST00000369356.4_In_Frame_Ins_p.2175_2176insK|PDE4DIP_ENST00000524974.1_5'UTR|PDE4DIP_ENST00000313382.9_In_Frame_Ins_p.2069_2070insK|PDE4DIP_ENST00000530740.1_In_Frame_Ins_p.2260_2261insK	p.2311_2312insK			Q5VU43	MYOME_HUMAN		Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)	43	6970_6971	-			2175					A2RU15|O75042|O75065|Q2YDC1|Q5VU42|Q5VU44|Q5VU45|Q5VU46|Q5VU47|Q5VU48|Q5VU49|Q68DU2|Q6AZ93|Q6PK88|Q86T40|Q86TB2|Q8N3W0|Q8TAY9|Q9HCP2|Q9HCP3|Q9HCP4|Q9HCP5	In_Frame_Ins	INS	ENST00000369354.3	37	c.6932_6933insAAA	CCDS30824.1																																																																																				0.48	PDE4DIP-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000038858.2	NM_022359		17	134						17	134	---	---	---	---	TTT	144856961	-	TTT	144856960	7	5	71	1	0	1	1	0	0	0	0	0	11643	796	28	0	535	0	PDE4DIP	1	144856960	In_Frame_Ins	INS	-	TCGA-EJ-5525-01A-01D-1576-08	24514579	144856960	104393661	6	3670											
PGLYRP3	114771	broad.mit.edu	37	chr1	153274900	153274900	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttactgatatccaatgtcaCaaaagttccgtgtgtccatg	11	13	7	10	1	1	1	1	1	0	0	4	1	4	1	3	0	1	1	3	0	5	3			TCGA-EJ-5525-01A-01D-1576-08	TCGA-EJ-5525-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3953b74a-6ac2-443c-9c61-be6894c76d92	800eb17e-206d-461a-8dad-15d3a09dfb9a	g.chr1:153274900C>A	ENST00000290722.1	-	5	765	c.713G>T	c.(712-714)tGt>tTt	p.C238F		NM_052891.1	NP_443123.1	Q96LB9	PGRP3_HUMAN	peptidoglycan recognition protein 3	238					defense response to Gram-positive bacterium (GO:0050830)|detection of bacterium (GO:0016045)|growth of symbiont in host (GO:0044117)|innate immune response (GO:0045087)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of natural killer cell differentiation involved in immune response (GO:0032827)|pattern recognition receptor signaling pathway (GO:0002221)|peptidoglycan catabolic process (GO:0009253)	extracellular region (GO:0005576)|intracellular (GO:0005622)|membrane (GO:0016020)	N-acetylmuramoyl-L-alanine amidase activity (GO:0008745)|peptidoglycan binding (GO:0042834)|peptidoglycan receptor activity (GO:0016019)|zinc ion binding (GO:0008270)	p.C238F(1)		breast(3)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(1)|liver(1)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	28	all_lung(78;3.35e-32)|Lung NSC(65;1.22e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			TCCAATGTCACAAAAGTTCCG	0.473																																						ENST00000290722.1																			1	Substitution - Missense(1)	p.C238F(1)	prostate(1)	breast(3)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(1)|liver(1)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	28						c.(712-714)tGt>tTt		peptidoglycan recognition protein 3							246	228	234					1																	153274900		2203	4300	6503	SO:0001583	missense	114771				defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptidoglycan catabolic process	extracellular region|intracellular|membrane	N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding	g.chr1:153274900C>A	AY035376	CCDS1035.1	1q21	2008-02-05			ENSG00000159527	ENSG00000159527			30014	protein-coding gene	gene with protein product	"peptidoglycan recognition protein I alpha precursor"	608197				11461926	Standard	NM_052891		Approved	PGRPIA, PGLYRPIalpha, PGRP-Ialpha	uc001fbn.1	Q96LB9	OTTHUMG00000014044	ENST00000290722.1:c.713G>T	1.37:g.153274900C>A	ENSP00000290722:p.Cys238Phe						p.C238F	NM_052891.1	NP_443123.1	Q96LB9	PGRP3_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		5	765	-	all_lung(78;3.35e-32)|Lung NSC(65;1.22e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		238					A1A4U8|Q5SY65	Missense_Mutation	SNP	ENST00000290722.1	37	c.713G>T	CCDS1035.1	.	.	.	.	.	.	.	.	.	.	C	15.47	2.842334	0.51057	.	.	ENSG00000159527	ENST00000290722	T	0.13657	2.57	4.3	4.3	0.51218	Peptidoglycan recognition protein family domain, metazoa/bacteria (1);N-acetylmuramoyl-L-alanine amidase domain (4);	0.000000	0.64402	D	0.000004	T	0.22003	0.0530	M	0.80982	2.52	0.47245	D	0.999369	D	0.89917	1.0	D	0.87578	0.998	T	0.20009	-1.0288	10	0.09843	T	0.71	-38.6811	12.1343	0.53961	0.0:1.0:0.0:0.0	.	238	Q96LB9	PGRP3_HUMAN	F	238	ENSP00000290722:C238F	ENSP00000290722:C238F	C	-	2	0	PGLYRP3	151541524	1.000000	0.71417	0.980000	0.43619	0.951000	0.60555	3.407000	0.52644	2.230000	0.72887	0.655000	0.94253	TGT		0.473	PGLYRP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039488.1	NM_052891		104	469	1	0	5.77035e-48	0.870114	6.66338e-48	104	469					A	153274900	C	A	153274900	3	1	71	1	0	0	0	0	1	0	0	0	11795	478	17	5	324	5	PGLYRP3	1	153274900	Missense_Mutation	SNP	C	TCGA-EJ-5525-01A-01D-1576-08	8417940	153274900	95975721	7	3671											
PM20D1	148811	broad.mit.edu	37	chr1	205817085	205817085	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agagctaaaagtcactgttgGaatctggatggcacctgtca	12	10	11	8	0	3	1	2	0	1	1	3	3	3	3	1	3	1	3	1	3	3	2			TCGA-EJ-5525-01A-01D-1576-08	TCGA-EJ-5525-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3953b74a-6ac2-443c-9c61-be6894c76d92	800eb17e-206d-461a-8dad-15d3a09dfb9a	g.chr1:205817085G>T	ENST00000367136.4	-	2	228	c.184C>A	c.(184-186)Cca>Aca	p.P62T	PM20D1_ENST00000460624.1_5'UTR	NM_152491.4	NP_689704.4	Q6GTS8	P20D1_HUMAN	peptidase M20 domain containing 1	62					negative regulation of neuron death (GO:1901215)|regulation of defense response to virus by host (GO:0050691)|regulation of viral process (GO:0050792)	extracellular vesicular exosome (GO:0070062)	metal ion binding (GO:0046872)|peptidase activity (GO:0008233)	p.P62T(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)	28	Breast(84;0.201)		BRCA - Breast invasive adenocarcinoma(75;0.0252)			GTCACTGTTGGAATCTGGATG	0.408																																						ENST00000367136.4																			1	Substitution - Missense(1)	p.P62T(1)	prostate(1)	breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)	28						c.(184-186)Cca>Aca		peptidase M20 domain containing 1							50	48	48					1																	205817085		2203	4300	6503	SO:0001583	missense	148811					extracellular region	metal ion binding|peptidase activity	g.chr1:205817085G>T		CCDS1460.1	1q32.1	2008-02-05			ENSG00000162877	ENSG00000162877			26518	protein-coding gene	gene with protein product							Standard	NM_152491		Approved	FLJ32569, Cps1	uc001hdj.3	Q6GTS8	OTTHUMG00000035999	ENST00000367136.4:c.184C>A	1.37:g.205817085G>T	ENSP00000356104:p.Pro62Thr					PM20D1_ENST00000460624.1_5'UTR	p.P62T	NM_152491.4	NP_689704.4	Q6GTS8	P20D1_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.0252)		2	228	-	Breast(84;0.201)		62					Q6P4E3|Q96DM4	Missense_Mutation	SNP	ENST00000367136.4	37	c.184C>A	CCDS1460.1	.	.	.	.	.	.	.	.	.	.	G	17.56	3.418971	0.62622	.	.	ENSG00000162877	ENST00000367136	T	0.12039	2.72	4.86	4.86	0.63082	.	0.000000	0.85682	D	0.000000	T	0.37517	0.1006	M	0.82823	2.61	0.49130	D	0.999753	D	0.69078	0.997	D	0.63703	0.917	T	0.24941	-1.0146	10	0.59425	D	0.04	.	13.7727	0.63036	0.0:0.0:0.8457:0.1543	.	62	Q6GTS8	P20D1_HUMAN	T	62	ENSP00000356104:P62T	ENSP00000356104:P62T	P	-	1	0	PM20D1	204083708	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	4.407000	0.59754	2.417000	0.82017	0.561000	0.74099	CCA		0.408	PM20D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087736.1	NM_152491		57	84	1	0	1.74474e-33	0.870114	1.96791e-33	57	84					T	205817085	G	T	205817085	3	4	71	1	0	0	0	0	1	0	0	0	12128	1174	41	5	1372	5	PM20D1	1	205817085	Missense_Mutation	SNP	G	TCGA-EJ-5525-01A-01D-1576-08	52542185	205817085	43433536	8	3672											
CABC1	56997	broad.mit.edu	37	chr1	227153070	227153070	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggacattgagaaggcccggCaggctaaggctcgccccgag	10	4	15	12	3	0	1	0	1	0	1	1	4	0	2	3	5	0	3	3	5	2	2			TCGA-EJ-5525-01A-01D-1576-08	TCGA-EJ-5525-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3953b74a-6ac2-443c-9c61-be6894c76d92	800eb17e-206d-461a-8dad-15d3a09dfb9a	g.chr1:227153070C>T	ENST00000366779.1	+	8	3318	c.547C>T	c.(547-549)Cag>Tag	p.Q183*	ADCK3_ENST00000366778.1_Nonsense_Mutation_p.Q131*|ADCK3_ENST00000458507.2_Intron|ADCK3_ENST00000433743.2_5'Flank|ADCK3_ENST00000478406.1_Intron|ADCK3_ENST00000366777.3_Nonsense_Mutation_p.Q183*			Q8NI60	ADCK3_HUMAN	aarF domain containing kinase 3	183					cell death (GO:0008219)|ubiquinone biosynthetic process (GO:0006744)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.Q183*(1)		endometrium(1)|kidney(2)|large_intestine(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	9						GAAGGCCCGGCAGGCTAAGGC	0.617																																						ENST00000366779.1																			1	Substitution - Nonsense(1)	p.Q183*(1)	prostate(1)	endometrium(1)|kidney(2)|large_intestine(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	9						c.(547-549)Cag>Tag		aarF domain containing kinase 3							23	26	25					1																	227153070		2190	4277	6467	SO:0001587	stop_gained	56997				cell death	mitochondrion	ATP binding|protein serine/threonine kinase activity	g.chr1:227153070C>T	AJ278126	CCDS1557.1	1q42.11	2011-05-03	2010-10-01	2010-10-01	ENSG00000163050	ENSG00000163050			16812	protein-coding gene	gene with protein product	"coenzyme Q8 homolog (yeast)"	606980	"chaperone-ABC1 (activity of bc1 complex, S.pombe)-like", "chaperone, ABC1 activity of bc1 complex like (S. pombe)", "chaperone, ABC1 activity of bc1 complex homolog (S. pombe)"	CABC1			Standard	NM_020247		Approved	COQ8, SCAR9	uc001hqn.1	Q8NI60	OTTHUMG00000037621	ENST00000366779.1:c.547C>T	1.37:g.227153070C>T	ENSP00000355741:p.Gln183*					ADCK3_ENST00000366777.3_Nonsense_Mutation_p.Q183*|ADCK3_ENST00000366776.1_Nonsense_Mutation_p.Q108*|ADCK3_ENST00000366775.1_Nonsense_Mutation_p.Q28*|ADCK3_ENST00000366778.1_Nonsense_Mutation_p.Q131*|ADCK3_ENST00000478406.1_Intron|ADCK3_ENST00000458507.2_Intron	p.Q183*			Q8NI60	ADCK3_HUMAN			8	3318	+			183					Q5T7A5|Q63HK0|Q8NCJ6|Q9HBQ1|Q9NQ67	Nonsense_Mutation	SNP	ENST00000366779.1	37	c.547C>T	CCDS1557.1	.	.	.	.	.	.	.	.	.	.	C	56	26.536424	0.99969	.	.	ENSG00000163050	ENST00000366779;ENST00000366778;ENST00000366777;ENST00000366776;ENST00000366775;ENST00000405743	.	.	.	5.9	5.9	0.94986	.	0.065738	0.64402	D	0.000007	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.13470	T	0.59	1.7768	14.6367	0.68694	0.0:0.8543:0.1456:0.0	.	.	.	.	X	183;131;183;108;28;134	.	ENSP00000355737:Q28X	Q	+	1	0	ADCK3	225219693	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	2.266000	0.43320	2.808000	0.96608	0.650000	0.86243	CAG		0.617	ADCK3-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091712.1	NM_020247		30	3	0	0	0	0.750413	0	30	3					T	227153070	C	T	227153070	4	4	71	1	0	0	0	0	0	1	0	0	2527	711	25	3	553	3	CABC1	1	227153070	Nonsense_Mutation	SNP	C	TCGA-EJ-5525-01A-01D-1576-08	21335985	227153070	22097551	9	3673											
IWS1	55677	broad.mit.edu	37	chr2	128262862	128262862	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tttcagaatcactcattcgaGgtttgggaggctcctcattt	8	15	9	9	1	4	1	4	0	0	1	6	3	5	2	1	3	0	2	1	3	1	4			TCGA-EJ-5525-01A-01D-1576-08	TCGA-EJ-5525-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3953b74a-6ac2-443c-9c61-be6894c76d92	800eb17e-206d-461a-8dad-15d3a09dfb9a	g.chr2:128262862G>A	ENST00000295321.4	-	3	876	c.617C>T	c.(616-618)cCt>cTt	p.P206L	AC010976.2_ENST00000599001.1_RNA|IWS1_ENST00000455721.2_Missense_Mutation_p.P213L|IWS1_ENST00000486662.1_5'UTR	NM_017969.2	NP_060439.2	Q96ST2	IWS1_HUMAN	IWS1 homolog (S. cerevisiae)	206	Glu-rich.				mRNA processing (GO:0006397)|mRNA transport (GO:0051028)|regulation of histone H3-K36 trimethylation (GO:2001253)|regulation of histone H4 acetylation (GO:0090239)|regulation of mRNA export from nucleus (GO:0010793)|regulation of mRNA processing (GO:0050684)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.P206L(1)		cervix(1)|endometrium(2)|kidney(6)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	28	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0735)		ACTCATTCGAGGTTTGGGAGG	0.493																																						ENST00000295321.4																			1	Substitution - Missense(1)	p.P206L(1)	prostate(1)	cervix(1)|endometrium(2)|kidney(6)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	28						c.(616-618)cCt>cTt		IWS1 homolog (S. cerevisiae)							142	146	145					2																	128262862		2203	4300	6503	SO:0001583	missense	55677				transcription, DNA-dependent	nucleus	DNA binding	g.chr2:128262862G>A	AK000868	CCDS2146.1	2q14.3	2006-03-17			ENSG00000163166	ENSG00000163166			25467	protein-coding gene	gene with protein product							Standard	NM_017969		Approved	DKFZp761G0123, FLJ10006, FLJ14655, FLJ32319	uc002ton.2	Q96ST2	OTTHUMG00000131527	ENST00000295321.4:c.617C>T	2.37:g.128262862G>A	ENSP00000295321:p.Pro206Leu					AC010976.2_ENST00000599001.1_RNA|IWS1_ENST00000486662.1_5'UTR|IWS1_ENST00000455721.2_Missense_Mutation_p.P213L	p.P206L	NM_017969.2	NP_060439.2	Q96ST2	IWS1_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0735)	3	876	-	Colorectal(110;0.1)		206			Glu-rich.		Q2TB65|Q6P157|Q8N3E8|Q96MI7|Q9NV97|Q9NWH8	Missense_Mutation	SNP	ENST00000295321.4	37	c.617C>T	CCDS2146.1	.	.	.	.	.	.	.	.	.	.	G	8.930	0.963158	0.18583	.	.	ENSG00000163166	ENST00000295321;ENST00000433551;ENST00000455721;ENST00000409725	T;T	0.32988	1.43;1.46	5.79	2.26	0.28386	.	0.569651	0.17830	N	0.160577	T	0.17831	0.0428	L	0.29908	0.895	0.09310	N	1	B	0.17038	0.02	B	0.14023	0.01	T	0.09400	-1.0676	10	0.40728	T	0.16	-5.8546	3.3095	0.07011	0.0834:0.317:0.367:0.2326	.	206	Q96ST2	IWS1_HUMAN	L	206;159;213;211	ENSP00000295321:P206L;ENSP00000399245:P213L	ENSP00000295321:P206L	P	-	2	0	IWS1	127979332	0.005000	0.15991	0.418000	0.26571	0.893000	0.52053	0.597000	0.24059	1.419000	0.47118	0.591000	0.81541	CCT		0.493	IWS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254384.2	NM_017969		101	250	0	0	0	0.870114	0	101	250					A	128262862	G	A	128262862	3	1	71	1	0	0	0	0	1	0	0	0	7931	1000	35	3	1890	3	IWS1	2	128262862	Missense_Mutation	SNP	G	TCGA-EJ-5525-01A-01D-1576-08		128262862	114936511	10	3674											
PLEKHA3	65977	broad.mit.edu	37	chr2	179358603	179358618	+	Frame_Shift_Del	DEL	CTGAAAACCAAAATGT	CTGAAAACCAAAATGT	-																															taagtgaaaccagtgaatcgCtgaaaaccaaaatgtctgaa																										TCGA-EJ-5525-01A-01D-1576-08	TCGA-EJ-5525-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3953b74a-6ac2-443c-9c61-be6894c76d92	800eb17e-206d-461a-8dad-15d3a09dfb9a	g.chr2:179358603_179358618delCTGAAAACCAAAATGT	ENST00000234453.5	+	4	739_754	c.337_352delCTGAAAACCAAAATGT	c.(337-354)ctgaaaaccaaaatgtctfs	p.LKTKMS113fs	PLEKHA3_ENST00000461474.1_3'UTR	NM_019091.3	NP_061964.3	Q9HB20	PKHA3_HUMAN	pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 3	113						Golgi apparatus (GO:0005794)|membrane (GO:0016020)	1-phosphatidylinositol binding (GO:0005545)|phospholipid binding (GO:0005543)			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)	11			OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.0266)|all cancers(119;0.0865)			CAGTGAATCGCTGAAAACCAAAATGTCTGAACTTCG	0.333																																						ENST00000234453.4																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)	11						c.(337-354)ctfs		pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 3																																				SO:0001589	frameshift_variant	65977					cytoplasm|membrane		g.chr2:179358603_179358618delCTGAAAACCAAAATGT	AF286162	CCDS33336.1	2q31.2	2013-01-10	2002-01-14		ENSG00000116095	ENSG00000116095		"Pleckstrin homology (PH) domain containing"	14338	protein-coding gene	gene with protein product	"four-phosphate-adaptor protein 1"	607774	"pleckstrin homology domain-containing, family A (phosphoinositide binding specific) member 3"			11001876, 15107860	Standard	NM_019091		Approved	FAPP1	uc002umn.3	Q9HB20	OTTHUMG00000154446	ENST00000234453.5:c.337_352delCTGAAAACCAAAATGT	2.37:g.179358603_179358618delCTGAAAACCAAAATGT	ENSP00000234453:p.Leu113fs					PLEKHA3_ENST00000461474.1_3'UTR	p.LKTKMS113fs	NM_019091.3	NP_061964.3	Q9HB20	PKHA3_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.0266)|all cancers(119;0.0865)		4	739_754	+			113					Q4ZG69|Q86TQ1|Q9NXT3	Frame_Shift_Del	DEL	ENST00000234453.5	37	c.337_352delCTGAAAACCAAAATGT	CCDS33336.1																																																																																				0.333	PLEKHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335241.2	NM_019091		34	81						34	81	---	---	---	---	-	179358618	CTGAAAACCAAAATGT	-	179358603	7	5	71	1	0	1	0	1	0	0	0	0	12057	796	28	0	351	0	PLEKHA3	2	179358603	Frame_Shift_Del	DEL	CTGAAAACCAAAATGT	TCGA-EJ-5525-01A-01D-1576-08	51095741	179358603	63840770	11	3675											
CXCR7	57007	broad.mit.edu	37	chr2	237489879	237489879	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cggaagatcatcttctcctaCgtggtggtcttccttgtctg	5	15	10	11	2	5	1	1	0	4	1	7	2	6	2	2	3	1	0	2	3	2	4	rs572775769		TCGA-EJ-5525-01A-01D-1576-08	TCGA-EJ-5525-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3953b74a-6ac2-443c-9c61-be6894c76d92	800eb17e-206d-461a-8dad-15d3a09dfb9a	g.chr2:237489879C>T	ENST00000272928.3	+	2	1081	c.771C>T	c.(769-771)taC>taT	p.Y257Y		NM_020311.2	NP_064707.1	P25106	ACKR3_HUMAN	atypical chemokine receptor 3	257					angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902230)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|receptor internalization (GO:0031623)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cell surface (GO:0009986)|coated pit (GO:0005905)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	C-X-C chemokine binding (GO:0019958)|C-X-C chemokine receptor activity (GO:0016494)|coreceptor activity (GO:0015026)|scavenger receptor activity (GO:0005044)	p.Y257Y(1)									TCTTCTCCTACGTGGTGGTCT	0.582													C|||	1	0.000199681	0	0	5008	,	,		22608	0		0	False		,,,				2504	0.001					ENST00000272928.3																			1	Substitution - coding silent(1)	p.Y257Y(1)	prostate(1)								c.(769-771)taC>taT		atypical chemokine receptor 3							141	118	126					2																	237489879		2203	4300	6503	SO:0001819	synonymous_variant	57007							g.chr2:237489879C>T	BC008459	CCDS2516.1	2q37.3	2013-07-17	2013-07-16	2013-07-16	ENSG00000144476	ENSG00000144476		"CD molecules", "GPCR / Class A : Chemokine receptors : Atypical"	23692	protein-coding gene	gene with protein product		610376	"chemokine orphan receptor 1", "chemokine (C-X-C motif) receptor 7"	CMKOR1, CXCR7		16107333, 16148	Standard	NM_020311		Approved	RDC1, GPR159	uc002vwd.3	P25106	OTTHUMG00000133295	ENST00000272928.3:c.771C>T	2.37:g.237489879C>T							p.Y257Y	NM_020311.2	NP_064707.1					2	1081	+								A8K6J4|Q53RV4|Q8NE10|Q92938|Q92986	Silent	SNP	ENST00000272928.3	37	c.771C>T	CCDS2516.1																																																																																				0.582	ACKR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257079.2	NM_020311		164	133	0	0	0	0.870114	0	164	133					T	237489879	C	T	237489879	2	4	71	1	0	0	0	0	0	0	0	1	4096	547	19	1		1	CXCR7	2	237489879	Silent	SNP	C	TCGA-EJ-5525-01A-01D-1576-08	58131276	237489879	5709494	12	3676											
KIF1A	547	broad.mit.edu	37	chr2	241658536	241658536	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	catgtaggcataggggcgccGcaccaccacgaagcgcctgg	9	4	14	14	4	0	0	0	0	0	0	0	1	0	0	4	4	1	3	4	4	3	2			TCGA-EJ-5525-01A-01D-1576-08	TCGA-EJ-5525-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3953b74a-6ac2-443c-9c61-be6894c76d92	800eb17e-206d-461a-8dad-15d3a09dfb9a	g.chr2:241658536G>A	ENST00000320389.7	-	45	4956	c.4798C>T	c.(4798-4800)Cgg>Tgg	p.R1600W	KIF1A_ENST00000498729.2_Missense_Mutation_p.R1701W	NM_004321.6	NP_004312.2	Q12756	KIF1A_HUMAN	kinesin family member 1A	1600	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				anterograde axon cargo transport (GO:0008089)|ATP catabolic process (GO:0006200)|cell death (GO:0008219)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|motor activity (GO:0003774)|plus-end-directed microtubule motor activity (GO:0008574)	p.R1600W(1)		NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)		TAGGGGCGCCGCACCACCACG	0.622																																						ENST00000498729.2																			1	Substitution - Missense(1)	p.R1600W(1)	prostate(1)	NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66						c.(5101-5103)Cgg>Tgg		kinesin family member 1A							83	97	92					2																	241658536		2158	4269	6427	SO:0001583	missense	547				anterograde axon cargo transport	cytoplasm|microtubule|nucleus	ATP binding|microtubule motor activity	g.chr2:241658536G>A	AF004425	CCDS46561.1, CCDS58757.1	2q37.2	2014-09-17	2004-01-09	2004-01-14	ENSG00000130294	ENSG00000130294		"Kinesins", "Pleckstrin homology (PH) domain containing"	888	protein-coding gene	gene with protein product		601255	"axonal transport of synaptic vesicles", "chromosome 2 open reading frame 20", "spastic paraplegia 30 (autosomal recessive)"	ATSV, C2orf20, SPG30		7539720, 10323250, 22258533	Standard	NM_001244008		Approved	UNC104	uc010fzk.3	Q12756	OTTHUMG00000151940	ENST00000320389.7:c.4798C>T	2.37:g.241658536G>A	ENSP00000322791:p.Arg1600Trp					KIF1A_ENST00000320389.7_Missense_Mutation_p.R1600W	p.R1701W	NM_001244008.1	NP_001230937.1	Q12756	KIF1A_HUMAN		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)	47	5347	-		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)	1600					B0I1S5|F5H045|O95068|Q13355|Q14752|Q2NKJ6|Q4LE42|Q53T78|Q59GH1|Q63Z40|Q6P1R9|Q7KZ57	Missense_Mutation	SNP	ENST00000320389.7	37	c.5101C>T	CCDS46561.1	.	.	.	.	.	.	.	.	.	.	G	19.68	3.872312	0.72180	.	.	ENSG00000130294	ENST00000320389;ENST00000498729;ENST00000373308	T;T	0.77358	-1.09;-1.09	4.06	1.82	0.25136	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.85682	U	0.000000	D	0.87334	0.6151	M	0.85945	2.785	0.49915	D	0.999831	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.87850	0.2657	10	0.87932	D	0	.	11.455	0.50176	0.0:0.0:0.4493:0.5507	.	1701;1600	F5H045;Q12756	.;KIF1A_HUMAN	W	1600;1701;1709	ENSP00000322791:R1600W;ENSP00000438388:R1701W	ENSP00000322791:R1600W	R	-	1	2	KIF1A	241307209	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.996000	0.57009	0.634000	0.30469	0.467000	0.42956	CGG		0.622	KIF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324536.3	NM_138483		51	192	0	0	0	0.870114	0	51	192					A	241658536	G	A	241658536	3	1	71	1	0	0	0	0	1	0	0	0	8283	1086	38	1	286	1	KIF1A	2	241658536	Missense_Mutation	SNP	G	TCGA-EJ-5525-01A-01D-1576-08	4168657	241658536	1540837	13	3677											
NR1D2	9975	broad.mit.edu	37	chr3	24001168	24001168	+	Frame_Shift_Del	DEL	T	T	-																															tcctttgttcttagggtttcTttcggagaagtattcaacaa																										TCGA-EJ-5525-01A-01D-1576-08	TCGA-EJ-5525-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3953b74a-6ac2-443c-9c61-be6894c76d92	800eb17e-206d-461a-8dad-15d3a09dfb9a	g.chr3:24001168delT	ENST00000312521.4	+	4	698	c.379delT	c.(379-381)tttfs	p.F127fs	NR1D2_ENST00000492552.1_3'UTR	NM_001145425.1|NM_005126.4	NP_001138897.1|NP_005117	Q14995	NR1D2_HUMAN	nuclear receptor subfamily 1, group D, member 2	127	Hinge.				gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|lipid homeostasis (GO:0055088)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of circadian rhythm (GO:0042752)|regulation of energy homeostasis (GO:2000505)|regulation of inflammatory response (GO:0050727)|regulation of lipid metabolic process (GO:0019216)|regulation of skeletal muscle cell differentiation (GO:2001014)|regulation of transcription, DNA-templated (GO:0006355)|rhythmic process (GO:0048511)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			NS(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	22						TTAGGGTTTCTTTCGGAGAAG	0.358																																						ENST00000312521.4																			0				NS(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	22						c.(379-381)ttfs		nuclear receptor subfamily 1, group D, member 2							137	135	135					3																	24001168		2203	4300	6503	SO:0001589	frameshift_variant	9975				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding	g.chr3:24001168delT	BC045613	CCDS33718.1	3p24.1	2013-01-16			ENSG00000174738	ENSG00000174738		"Nuclear hormone receptors"	7963	protein-coding gene	gene with protein product		602304				7997240, 10198169	Standard	NM_005126		Approved	BD73, RVR, EAR-1r, HZF2, Hs.37288	uc003ccs.2	Q14995	OTTHUMG00000155659	ENST00000312521.4:c.379delT	3.37:g.24001168delT	ENSP00000310006:p.Phe127fs					NR1D2_ENST00000492552.1_3'UTR	p.F127fs	NM_001145425.1|NM_005126.4	NP_001138897.1|NP_005117.3	Q14995	NR1D2_HUMAN			4	698	+			127					B2R8Q3|O00402|Q86XD4	Frame_Shift_Del	DEL	ENST00000312521.4	37	c.379delT	CCDS33718.1																																																																																				0.358	NR1D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341017.3			82	127						82	127	---	---	---	---	-	24001168	T	-	24001168	7	5	71	1	0	1	0	1	0	0	0	0	10616	1609	56	0	393	0	NR1D2	3	24001168	Frame_Shift_Del	DEL	T	TCGA-EJ-5525-01A-01D-1576-08		24001168	174021262	14	3678											
CTNNB1	1499	broad.mit.edu	37	chr3	41266097	41266097	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	ggcagcaacagtcttacctgGactctggaatccattctggt	9	11	10	11	0	3	0	0	0	3	0	4	2	4	2	2	4	3	2	2	4	3	2	rs28931588|rs121913416|rs121913417		TCGA-EJ-5525-01A-01D-1576-08	TCGA-EJ-5525-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3953b74a-6ac2-443c-9c61-be6894c76d92	800eb17e-206d-461a-8dad-15d3a09dfb9a	g.chr3:41266097G>C	ENST00000349496.5	+	3	374	c.94G>C	c.(94-96)Gac>Cac	p.D32H	CTNNB1_ENST00000405570.1_Missense_Mutation_p.D32H|CTNNB1_ENST00000396183.3_Missense_Mutation_p.D32H|CTNNB1_ENST00000453024.1_Missense_Mutation_p.D25H|CTNNB1_ENST00000396185.3_Missense_Mutation_p.D32H	NM_001904.3	NP_001895.1	P35222	CTNB1_HUMAN	catenin (cadherin-associated protein), beta 1, 88kDa	32			D -> A (in hepatocellular carcinoma). {ECO:0000269|PubMed:10435629}.|D -> G (in PTR and hepatocellular carcinoma). {ECO:0000269|PubMed:10192393, ECO:0000269|PubMed:10435629}.|D -> Y (in PTR, hepatoblastoma and hepatocellular carcinoma; dbSNP:rs28931588). {ECO:0000269|PubMed:10192393, ECO:0000269|PubMed:10435629, ECO:0000269|PubMed:11703283, ECO:0000269|PubMed:9927029}.|Missing (in hepatocellular carcinoma). {ECO:0000269|PubMed:10435629}.		adherens junction assembly (GO:0034333)|androgen receptor signaling pathway (GO:0030521)|anterior/posterior axis specification (GO:0009948)|apoptotic process (GO:0006915)|bone resorption (GO:0045453)|branching involved in ureteric bud morphogenesis (GO:0001658)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|canonical Wnt signaling pathway involved in positive regulation of cardiac outflow tract cell proliferation (GO:0061324)|canonical Wnt signaling pathway involved in positive regulation of epithelial to mesenchymal transition (GO:0044334)|cell adhesion (GO:0007155)|cell fate specification (GO:0001708)|cell maturation (GO:0048469)|cell-matrix adhesion (GO:0007160)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to growth factor stimulus (GO:0071363)|cellular response to indole-3-methanol (GO:0071681)|cellular response to mechanical stimulus (GO:0071260)|central nervous system vasculogenesis (GO:0022009)|cytoskeletal anchoring at plasma membrane (GO:0007016)|determination of dorsal/ventral asymmetry (GO:0048262)|dorsal/ventral axis specification (GO:0009950)|ectoderm development (GO:0007398)|embryonic axis specification (GO:0000578)|embryonic digit morphogenesis (GO:0042733)|embryonic foregut morphogenesis (GO:0048617)|embryonic forelimb morphogenesis (GO:0035115)|embryonic heart tube development (GO:0035050)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal limb joint morphogenesis (GO:0036023)|endodermal cell fate commitment (GO:0001711)|endothelial tube morphogenesis (GO:0061154)|epithelial cell differentiation involved in prostate gland development (GO:0060742)|epithelial to mesenchymal transition (GO:0001837)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|fungiform papilla formation (GO:0061198)|gastrulation with mouth forming second (GO:0001702)|genitalia morphogenesis (GO:0035112)|glial cell fate determination (GO:0007403)|hair cell differentiation (GO:0035315)|hair follicle morphogenesis (GO:0031069)|hair follicle placode formation (GO:0060789)|hindbrain development (GO:0030902)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|layer formation in cerebral cortex (GO:0021819)|lens morphogenesis in camera-type eye (GO:0002089)|liver development (GO:0001889)|lung cell differentiation (GO:0060479)|lung induction (GO:0060492)|lung-associated mesenchyme development (GO:0060484)|male genitalia development (GO:0030539)|mesenchymal cell proliferation involved in lung development (GO:0060916)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|midgut development (GO:0007494)|muscle cell differentiation (GO:0042692)|myoblast differentiation (GO:0045445)|negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of heart induction by canonical Wnt signaling pathway (GO:0003136)|negative regulation of neuron death (GO:1901215)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein sumoylation (GO:0033234)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nephron tubule formation (GO:0072079)|neural plate development (GO:0001840)|neuron migration (GO:0001764)|odontogenesis of dentin-containing tooth (GO:0042475)|oocyte development (GO:0048599)|osteoclast differentiation (GO:0030316)|oviduct development (GO:0060066)|pancreas development (GO:0031016)|patterning of blood vessels (GO:0001569)|positive regulation of apoptotic process (GO:0043065)|positive regulation of branching involved in lung morphogenesis (GO:0061047)|positive regulation of determination of dorsal identity (GO:2000017)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of epithelial cell proliferation involved in prostate gland development (GO:0060769)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of fibroblast growth factor receptor signaling pathway (GO:0045743)|positive regulation of heparan sulfate proteoglycan biosynthetic process (GO:0010909)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein heterooligomerization (GO:0051291)|protein localization to cell surface (GO:0034394)|proximal/distal pattern formation (GO:0009954)|regulation of angiogenesis (GO:0045765)|regulation of calcium ion import (GO:0090279)|regulation of centriole-centriole cohesion (GO:0030997)|regulation of centromeric sister chromatid cohesion (GO:0070602)|regulation of fibroblast proliferation (GO:0048145)|regulation of myelination (GO:0031641)|regulation of nephron tubule epithelial cell differentiation (GO:0072182)|regulation of protein localization to cell surface (GO:2000008)|regulation of secondary heart field cardioblast proliferation (GO:0003266)|regulation of smooth muscle cell proliferation (GO:0048660)|regulation of T cell proliferation (GO:0042129)|renal inner medulla development (GO:0072053)|renal outer medulla development (GO:0072054)|renal vesicle formation (GO:0072033)|response to cadmium ion (GO:0046686)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|Schwann cell proliferation (GO:0014010)|single organismal cell-cell adhesion (GO:0016337)|smooth muscle cell differentiation (GO:0051145)|synapse organization (GO:0050808)|synaptic vesicle transport (GO:0048489)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tongue morphogenesis (GO:0043587)|trachea formation (GO:0060440)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	adherens junction (GO:0005912)|apical part of cell (GO:0045177)|basolateral plasma membrane (GO:0016323)|beta-catenin destruction complex (GO:0030877)|beta-catenin-TCF7L2 complex (GO:0070369)|catenin complex (GO:0016342)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cell periphery (GO:0071944)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|membrane (GO:0016020)|microvillus membrane (GO:0031528)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein-DNA complex (GO:0032993)|Scrib-APC-beta-catenin complex (GO:0034750)|synapse (GO:0045202)|tight junction (GO:0005923)|transcription factor complex (GO:0005667)|Z disc (GO:0030018)|zonula adherens (GO:0005915)	alpha-catenin binding (GO:0045294)|androgen receptor binding (GO:0050681)|cadherin binding (GO:0045296)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|estrogen receptor binding (GO:0030331)|I-SMAD binding (GO:0070411)|ion channel binding (GO:0044325)|kinase binding (GO:0019900)|nuclear hormone receptor binding (GO:0035257)|protein C-terminus binding (GO:0008022)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|R-SMAD binding (GO:0070412)|RNA polymerase II activating transcription factor binding (GO:0001102)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|SMAD binding (GO:0046332)|structural molecule activity (GO:0005198)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)	p.D32Y(128)|p.D32N(82)|p.A5_A80del(53)|p.D32H(40)|p.A5_Q143del(7)|p.A5_A80>D(7)|p.Q28_H134del(5)|p.WQQQSYLD25?(5)|p.W25_D32del(4)|p.?(4)|p.V22_G38del(3)|p.W25_I140del(3)|p.T3_A126del(2)|p.S23_S33del(2)|p.V22_S33del(2)|p.A5fs*7(2)|p.D32_S47del(2)|p.M5_N141>D(2)|p.L10_N141del(2)|p.A5_Y142>D(2)|p.Y30_S33del(2)|p.A5_Q143>E(1)|p.A13_R151del(1)|p.S29_H36del(1)|p.D32del(1)|p.M14_S45del(1)|p.Q28_D32>H(1)|p.Q28fs*20(1)|p.A20_N141del(1)|p.M1_A87del(1)|p.D11_Y142>H(1)|p.H24_G38del(1)|p.S23_I35del(1)|p.Y30_A97del(1)|p.W25_S33del(1)|p.V22_T102del(1)|p.A20_A80del(1)|p.V22_S71>A(1)|p.Q28_A43del(1)|p.A5_T59del(1)|p.A20_I35del(1)|p.M1_V173del(1)|p.E15_I140>V(1)|p.S23_A39del(1)|p.H24_M131del(1)|p.A21_A80del(1)|p.Y30_A80del(1)|p.A5_T40del(1)|p.A5_E54del(1)|p.W25_I35del(1)|p.M8_A80del(1)|p.P16_K133del(1)|p.V22_Y64del(1)|p.D32fs*9(1)|p.Q28_Q61del(1)|p.A20_S111del(1)|p.Y30_T40del(1)|p.A5_I35del(1)|p.D32_H36del(1)	CTNNB1/PLAG1(60)	NS(4)|adrenal_gland(103)|biliary_tract(43)|bone(21)|breast(7)|central_nervous_system(260)|cervix(9)|endometrium(293)|eye(1)|haematopoietic_and_lymphoid_tissue(60)|kidney(202)|large_intestine(269)|liver(1010)|lung(63)|oesophagus(6)|ovary(106)|pancreas(126)|parathyroid(11)|pituitary(111)|pleura(2)|prostate(31)|salivary_gland(13)|skin(103)|small_intestine(17)|soft_tissue(792)|stomach(165)|thyroid(55)|upper_aerodigestive_tract(2)|urinary_tract(8)	3893				KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294)		GTCTTACCTGGACTCTGGAAT	0.478	D32N(KE39_STOMACH)	15	"H, Mis, T"	PLAG1	"colorectal, cvarian,  hepatoblastoma, others, pleomorphic salivary adenoma"				Pilomatrixoma, Familial Clustering of																												Colon(6;3 56 14213 18255)	ENST00000349496.5	D32N(KE39_STOMACH)	15		Dom	yes		3	3p22-p21.3	1499	"H, Mis, T"	"catenin (cadherin-associated protein), beta 1"			"E, M, O"	PLAG1		"colorectal, cvarian,  hepatoblastoma, others, pleomorphic salivary adenoma"	CTNNB1/PLAG1(60)	397	Substitution - Missense(250)|Deletion - In frame(120)|Complex - deletion inframe(16)|Unknown(7)|Deletion - Frameshift(3)|Complex - frameshift(1)	p.D32Y(128)|p.D32N(82)|p.A5_A80del(53)|p.D32H(40)|p.A5_Q143del(7)|p.A5_A80>D(7)|p.Q28_H134del(5)|p.WQQQSYLD25?(5)|p.W25_D32del(4)|p.?(4)|p.V22_G38del(3)|p.W25_I140del(3)|p.T3_A126del(2)|p.S23_S33del(2)|p.V22_S33del(2)|p.A5fs*7(2)|p.D32_S47del(2)|p.M5_N141>D(2)|p.L10_N141del(2)|p.A5_Y142>D(2)|p.Y30_S33del(2)|p.A5_Q143>E(1)|p.A13_R151del(1)|p.S29_H36del(1)|p.D32del(1)|p.M14_S45del(1)|p.Q28_D32>H(1)|p.Q28fs*20(1)|p.A20_N141del(1)|p.M1_A87del(1)|p.D11_Y142>H(1)|p.H24_G38del(1)|p.S23_I35del(1)|p.Y30_A97del(1)|p.W25_S33del(1)|p.V22_T102del(1)|p.A20_A80del(1)|p.V22_S71>A(1)|p.Q28_A43del(1)|p.A5_T59del(1)|p.A20_I35del(1)|p.M1_V173del(1)|p.E15_I140>V(1)|p.S23_A39del(1)|p.H24_M131del(1)|p.A21_A80del(1)|p.Y30_A80del(1)|p.A5_T40del(1)|p.A5_E54del(1)|p.W25_I35del(1)|p.M8_A80del(1)|p.P16_K133del(1)|p.V22_Y64del(1)|p.D32fs*9(1)|p.Q28_Q61del(1)|p.A20_S111del(1)|p.Y30_T40del(1)|p.A5_I35del(1)|p.D32_H36del(1)	liver(155)|central_nervous_system(55)|endometrium(40)|stomach(36)|pancreas(28)|large_intestine(22)|pituitary(22)|skin(11)|ovary(9)|soft_tissue(4)|prostate(4)|small_intestine(2)|haematopoietic_and_lymphoid_tissue(2)|bone(2)|adrenal_gland(1)|biliary_tract(1)|urinary_tract(1)|lung(1)|NS(1)	NS(4)|adrenal_gland(103)|biliary_tract(43)|bone(21)|breast(7)|central_nervous_system(260)|cervix(9)|endometrium(293)|eye(1)|haematopoietic_and_lymphoid_tissue(60)|kidney(202)|large_intestine(269)|liver(1010)|lung(63)|oesophagus(6)|ovary(106)|pancreas(126)|parathyroid(11)|pituitary(111)|pleura(2)|prostate(31)|salivary_gland(13)|skin(103)|small_intestine(17)|soft_tissue(792)|stomach(165)|thyroid(55)|upper_aerodigestive_tract(2)|urinary_tract(8)	3893						c.(94-96)Gac>Cac		catenin (cadherin-associated protein), beta 1, 88kDa	Lithium(DB01356)						92	77	82					3																	41266097		2203	4300	6503	SO:0001583	missense	1499	Pilomatrixoma, Familial Clustering of	Familial Cancer Database	Pilomatricoma, Familial Clustering of, Epithelioma Calcificans of Malherbe	adherens junction assembly|androgen receptor signaling pathway|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway involved in negative regulation of apoptosis|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell-cell adhesion|cell-matrix adhesion|cellular component disassembly involved in apoptosis|cellular response to growth factor stimulus|cellular response to indole-3-methanol|central nervous system vasculogenesis|cytoskeletal anchoring at plasma membrane|determination of dorsal/ventral asymmetry|dorsal/ventral axis specification|ectoderm development|embryonic axis specification|embryonic foregut morphogenesis|embryonic leg joint morphogenesis|endodermal cell fate commitment|endothelial tube morphogenesis|epithelial to mesenchymal transition|gastrulation with mouth forming second|glial cell fate determination|hair follicle morphogenesis|hair follicle placode formation|hindbrain development|liver development|lung cell differentiation|lung induction|lung-associated mesenchyme development|male genitalia development|mesenchymal cell proliferation involved in lung development|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of osteoclast differentiation|negative regulation of transcription from RNA polymerase II promoter|nephron tubule formation|odontogenesis of dentine-containing tooth|oocyte development|pancreas development|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of branching involved in lung morphogenesis|positive regulation of epithelial cell proliferation involved in prostate gland development|positive regulation of fibroblast growth factor receptor signaling pathway|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of muscle cell differentiation|positive regulation of osteoblast differentiation|positive regulation of transcription from RNA polymerase II promoter|protein localization at cell surface|proximal/distal pattern formation|regulation of angiogenesis|regulation of calcium ion import|regulation of centriole-centriole cohesion|regulation of centromeric sister chromatid cohesion|regulation of fibroblast proliferation|regulation of nephron tubule epithelial cell differentiation|regulation of protein localization at cell surface|regulation of smooth muscle cell proliferation|regulation of T cell proliferation|renal inner medulla development|renal outer medulla development|renal vesicle formation|response to drug|response to estradiol stimulus|Schwann cell proliferation|smooth muscle cell differentiation|synapse organization|synaptic vesicle transport|T cell differentiation in thymus|thymus development|trachea formation	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin-TCF7L2 complex|catenin complex|cell cortex|cell-substrate adherens junction|centrosome|dendritic shaft|desmosome|fascia adherens|internal side of plasma membrane|lamellipodium|lateral plasma membrane|microvillus membrane|perinuclear region of cytoplasm|protein-DNA complex|synapse|transcription factor complex|Z disc|zonula adherens	alpha-catenin binding|androgen receptor binding|cadherin binding|estrogen receptor binding|I-SMAD binding|ion channel binding|protein binding|protein C-terminus binding|protein kinase binding|protein phosphatase binding|R-SMAD binding|RPTP-like protein binding|signal transducer activity|specific RNA polymerase II transcription factor activity|structural molecule activity|transcription coactivator activity|transcription regulatory region DNA binding	g.chr3:41266097G>C	X87838	CCDS2694.1	3p21	2013-02-15	2002-08-29		ENSG00000168036	ENSG00000168036		"Armadillo repeat containing"	2514	protein-coding gene	gene with protein product		116806	"catenin (cadherin-associated protein), beta 1 (88kD)"	CTNNB		7829088	Standard	NM_001098210		Approved	beta-catenin, armadillo	uc003ckr.2	P35222	OTTHUMG00000131393	ENST00000349496.5:c.94G>C	3.37:g.41266097G>C	ENSP00000344456:p.Asp32His					CTNNB1_ENST00000453024.1_Missense_Mutation_p.D25H|CTNNB1_ENST00000396185.3_Missense_Mutation_p.D32H|CTNNB1_ENST00000396183.3_Missense_Mutation_p.D32H|CTNNB1_ENST00000405570.1_Missense_Mutation_p.D32H	p.D32H	NM_001904.3	NP_001895.1	P35222	CTNB1_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294)	3	374	+			32		D -> A (in hepatocellular carcinoma).|D -> G (in PTR and hepatocellular carcinoma).|D -> Y (in PTR, hepatoblastoma and hepatocellular carcinoma; dbSNP:rs28931588).|Missing (in hepatocellular carcinoma).			A8K1L7|Q8NEW9|Q8NI94|Q9H391	Missense_Mutation	SNP	ENST00000349496.5	37	c.94G>C	CCDS2694.1	.	.	.	.	.	.	.	.	.	.	G	24.8	4.566795	0.86439	.	.	ENSG00000168036	ENST00000426215;ENST00000405570;ENST00000431914;ENST00000396183;ENST00000349496;ENST00000453024;ENST00000396185;ENST00000450969;ENST00000441708	T;T;T;T;T;T;T;T;T	0.50277	0.75;0.75;0.75;0.75;0.75;0.75;0.75;0.75;0.75	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	T	0.71813	0.3384	M	0.79614	2.46	0.80722	D	1	D	0.89917	1.0	D	0.76575	0.988	T	0.74003	-0.3804	10	0.87932	D	0	0.3843	19.9596	0.97236	0.0:0.0:1.0:0.0	.	32	P35222	CTNB1_HUMAN	H	25;32;32;32;32;25;32;32;32	ENSP00000400508:D25H;ENSP00000385604:D32H;ENSP00000412219:D32H;ENSP00000379486:D32H;ENSP00000344456:D32H;ENSP00000411226:D25H;ENSP00000379488:D32H;ENSP00000409302:D32H;ENSP00000401599:D32H	ENSP00000344456:D32H	D	+	1	0	CTNNB1	41241101	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.869000	0.99810	2.726000	0.93360	0.655000	0.94253	GAC		0.478	CTNNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254182.2	NM_001098210		19	31	0	0	0	0.575678	0	19	31					C	41266097	G	C	41266097	3	2	71	1	0	0	0	0	1	0	0	0	4016	1174	41	5	100	5	CTNNB1	3	41266097	Missense_Mutation	SNP	G	TCGA-EJ-5525-01A-01D-1576-08	17264929	41266097	156756333	15	3679											
CELSR3	1951	broad.mit.edu	37	chr3	48677786	48677786	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgctcacggctcagttgccGccggaggagcaggtccagct	6	7	14	14	4	2	0	2	0	0	0	4	2	3	2	3	4	3	5	3	4	0	1			TCGA-EJ-5525-01A-01D-1576-08	TCGA-EJ-5525-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3953b74a-6ac2-443c-9c61-be6894c76d92	800eb17e-206d-461a-8dad-15d3a09dfb9a	g.chr3:48677786G>A	ENST00000164024.4	-	34	9512	c.9232C>T	c.(9232-9234)Cgg>Tgg	p.R3078W	CELSR3_ENST00000544264.1_Missense_Mutation_p.R3083W	NM_001407.2	NP_001398.2	Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	3078					axonal fasciculation (GO:0007413)|cilium assembly (GO:0042384)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of protein localization (GO:0032880)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)	p.R3078W(1)		NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		CTCAGTTGCCGCCGGAGGAGC	0.647																																						ENST00000544264.1																			1	Substitution - Missense(1)	p.R3078W(1)	prostate(1)	NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83						c.(9247-9249)Cgg>Tgg		cadherin, EGF LAG seven-pass G-type receptor 3							48	54	52					3																	48677786		2203	4294	6497	SO:0001583	missense	1951				homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding	g.chr3:48677786G>A	AF231023	CCDS2775.1	3p21.31	2014-08-08	2013-02-18		ENSG00000008300	ENSG00000008300		"Cadherins / Major cadherins", "-", "GPCR / Class B : Orphans"	3230	protein-coding gene	gene with protein product	"flamingo homolog 1 (Drosophila)"	604264	"cadherin EGF LAG seven-pass G-type receptor 3, flamingo (Drosophila) homolog"	EGFL1		9693030	Standard	NM_001407		Approved	MEGF2, HFMI1, FMI1, CDHF11	uc003cuf.1	Q9NYQ7	OTTHUMG00000133544	ENST00000164024.4:c.9232C>T	3.37:g.48677786G>A	ENSP00000164024:p.Arg3078Trp					CELSR3_ENST00000164024.4_Missense_Mutation_p.R3078W	p.R3083W			Q9NYQ7	CELR3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)	35	9527	-			3078					O75092	Missense_Mutation	SNP	ENST00000164024.4	37	c.9247C>T	CCDS2775.1	.	.	.	.	.	.	.	.	.	.	G	15.98	2.993400	0.54041	.	.	ENSG00000008300	ENST00000164024;ENST00000544264	T;T	0.74209	-0.82;-0.82	4.86	3.94	0.45596	.	.	.	.	.	T	0.77205	0.4096	L	0.29908	0.895	0.45914	D	0.998755	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.70935	0.971;0.936;0.965	T	0.78964	-0.1996	9	0.66056	D	0.02	.	12.1918	0.54275	0.0:0.0:0.6116:0.3884	.	3083;3078;3176	Q9NYQ7-2;Q9NYQ7;Q5Y190	.;CELR3_HUMAN;.	W	3078;3083	ENSP00000164024:R3078W;ENSP00000445694:R3083W	ENSP00000164024:R3078W	R	-	1	2	CELSR3	48652790	1.000000	0.71417	1.000000	0.80357	0.334000	0.28698	1.225000	0.32551	2.250000	0.74265	0.484000	0.47621	CGG		0.647	CELSR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257523.1	NM_001407		51	81	0	0	0	0.870114	0	51	81					A	48677786	G	A	48677786	3	1	71	1	0	0	0	0	1	0	0	0	3223	1086	38	1	714	1	CELSR3	3	48677786	Missense_Mutation	SNP	G	TCGA-EJ-5525-01A-01D-1576-08	7411689	48677786	149344644	16	3680											
PIK3CA	5290	broad.mit.edu	37	chr3	178936082	178936082	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctacacgagatcctctctctGaaatcactgagcaggagaaa	14	8	8	11	1	3	4	1	2	2	2	5	6	4	4	1	1	2	1	1	1	3	1	rs121913273		TCGA-EJ-5525-01A-01D-1576-08	TCGA-EJ-5525-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3953b74a-6ac2-443c-9c61-be6894c76d92	800eb17e-206d-461a-8dad-15d3a09dfb9a	g.chr3:178936082G>A	ENST00000263967.3	+	10	1781	c.1624G>A	c.(1624-1626)Gaa>Aaa	p.E542K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	542	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.		E -> K (in CLOVE, KERSEB, CRC and BC; also found in glioblastoma multiforme and endometrial carcinoma; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N- terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation). {ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15784156, ECO:0000269|PubMed:15924253, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:16353168, ECO:0000269|PubMed:16533766, ECO:0000269|PubMed:17673550, ECO:0000269|PubMed:22658544}.|E -> Q (found in an endometrial carcinoma sample; unknown pathological significance). {ECO:0000269|PubMed:16322209}.|E -> V (in BC; unknown pathological significance). {ECO:0000269|PubMed:16353168}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.E542K(545)|p.E542Q(10)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	TCCTCTCTCTGAAATCACTGA	0.333	E542K(BT483_BREAST)|E542K(CAL51_BREAST)|E542K(HGC27_STOMACH)|E542K(IM95_STOMACH)|E542K(JHUEM1_ENDOMETRIUM)|E542K(NCIH1341_LUNG)|E542K(SW948_LARGE_INTESTINE)|E542K(T84_LARGE_INTESTINE)|E542K(VMCUB1_URINARY_TRACT)	57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	ENST00000263967.3	E542K(BT483_BREAST)|E542K(CAL51_BREAST)|E542K(HGC27_STOMACH)|E542K(IM95_STOMACH)|E542K(JHUEM1_ENDOMETRIUM)|E542K(NCIH1341_LUNG)|E542K(SW948_LARGE_INTESTINE)|E542K(T84_LARGE_INTESTINE)|E542K(VMCUB1_URINARY_TRACT)	57		Dom	yes		3	3q26.3	5290	Mis	"phosphoinositide-3-kinase, catalytic, alpha polypeptide"			"E, O"			"colorectal, gastric, gliobastoma, breast"		555	Substitution - Missense(555)	p.E542K(545)|p.E542Q(10)	breast(176)|large_intestine(166)|urinary_tract(45)|endometrium(37)|skin(19)|lung(18)|stomach(16)|ovary(16)|thyroid(14)|upper_aerodigestive_tract(9)|central_nervous_system(7)|cervix(6)|liver(6)|oesophagus(5)|penis(4)|kidney(3)|soft_tissue(2)|haematopoietic_and_lymphoid_tissue(2)|prostate(2)|biliary_tract(1)|pituitary(1)	NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269						c.(1624-1626)Gaa>Aaa		phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha							56	56	56					3																	178936082		1809	4069	5878	SO:0001583	missense	5290				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	g.chr3:178936082G>A		CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"phosphoinositide-3-kinase, catalytic, alpha polypeptide"			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.1624G>A	3.37:g.178936082G>A	ENSP00000263967:p.Glu542Lys	HNSCC(19;0.045)|TSP Lung(28;0.18)					p.E542K	NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		10	1781	+	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		542		E -> K (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation).|E -> Q (in cancer).|E -> V (in cancer).	PI3K helical.		Q14CW1|Q99762	Missense_Mutation	SNP	ENST00000263967.3	37	c.1624G>A	CCDS43171.1	.	.	.	.	.	.	.	.	.	.	G	34	5.360420	0.95877	.	.	ENSG00000121879	ENST00000263967	T	0.62105	0.05	5.78	5.78	0.91487	Phosphoinositide 3-kinase, accessory (PIK) domain (3);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.69287	0.3094	L	0.41356	1.27	0.80722	D	1	D	0.65815	0.995	D	0.63192	0.912	T	0.60296	-0.7291	10	0.09843	T	0.71	-23.9623	20.0024	0.97423	0.0:0.0:1.0:0.0	.	542	P42336	PK3CA_HUMAN	K	542	ENSP00000263967:E542K	ENSP00000263967:E542K	E	+	1	0	PIK3CA	180418776	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	9.476000	0.97823	2.722000	0.93159	0.467000	0.42956	GAA		0.333	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2			60	61	0	0	0	0.870114	0	60	61					A	178936082	G	A	178936082	3	1	71	1	0	0	0	0	1	0	0	0	11913	1291	45	3	1658	3	PIK3CA	3	178936082	Missense_Mutation	SNP	G	TCGA-EJ-5525-01A-01D-1576-08	130258296	178936082	19086348	17	3681											
NAAA	27163	broad.mit.edu	37	chr4	76861916	76861916	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccgatgacttgcgccatcgCggcgcgcaccaagtccaagt	8	6	11	16	6	0	1	0	1	0	0	2	2	1	1	4	1	1	1	4	1	2	1			TCGA-EJ-5525-01A-01D-1576-08	TCGA-EJ-5525-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3953b74a-6ac2-443c-9c61-be6894c76d92	800eb17e-206d-461a-8dad-15d3a09dfb9a	g.chr4:76861916C>G	ENST00000286733.4	-	1	288	c.187G>C	c.(187-189)Gcg>Ccg	p.A63P	NAAA_ENST00000505594.1_5'Flank|NAAA_ENST00000507187.2_Missense_Mutation_p.A63P|NAAA_ENST00000507956.1_Missense_Mutation_p.A63P|NAAA_ENST00000399497.3_Missense_Mutation_p.A63P	NM_014435.3	NP_055250.2	Q02083	NAAA_HUMAN	N-acylethanolamine acid amidase	63					lipid metabolic process (GO:0006629)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds (GO:0016810)|transcription factor binding (GO:0008134)	p.A63P(1)		endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(1)	11						TGCGCCATCGCGGCGCGCACC	0.706																																						ENST00000286733.4																			1	Substitution - Missense(1)	p.A63P(1)	prostate(1)	endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(1)	11						c.(187-189)Gcg>Ccg		N-acylethanolamine acid amidase							12	14	14					4																	76861916		1895	4045	5940	SO:0001583	missense	27163				lipid metabolic process	lysosome	hydrolase activity	g.chr4:76861916C>G	M92449	CCDS43239.1	4q21.1	2011-09-23	2008-04-24	2008-04-24	ENSG00000138744	ENSG00000138744	3.5.1.-		736	protein-coding gene	gene with protein product		607469	"N-acylsphingosine amidohydrolase (acid ceramidase)-like"	ASAHL		10610717, 1446826	Standard	NM_001042402		Approved		uc003hjb.3	Q02083	OTTHUMG00000160855	ENST00000286733.4:c.187G>C	4.37:g.76861916C>G	ENSP00000286733:p.Ala63Pro					NAAA_ENST00000507956.1_Missense_Mutation_p.A63P|NAAA_ENST00000507187.2_Missense_Mutation_p.A63P|NAAA_ENST00000399497.3_Missense_Mutation_p.A63P	p.A63P	NM_014435.3	NP_055250.2	Q02083	NAAA_HUMAN			1	288	-			63					Q5KTF2|Q96EY2|Q9BRA8	Missense_Mutation	SNP	ENST00000286733.4	37	c.187G>C	CCDS43239.1	.	.	.	.	.	.	.	.	.	.	C	12.52	1.961617	0.34659	.	.	ENSG00000138744	ENST00000399497;ENST00000286733;ENST00000507956;ENST00000399490;ENST00000507187	T;T;T;T	0.51817	0.69;0.69;0.69;0.69	3.73	1.97	0.26223	.	0.433096	0.24620	N	0.036968	T	0.37489	0.1005	M	0.70275	2.135	0.09310	N	1	P;B	0.46064	0.872;0.154	B;B	0.38458	0.274;0.054	T	0.23940	-1.0174	10	0.25106	T	0.35	-7.5181	4.414	0.11447	0.2221:0.6583:0.0:0.1196	.	63;63	D6R9S9;Q02083	.;NAAA_HUMAN	P	63	ENSP00000382420:A63P;ENSP00000286733:A63P;ENSP00000427641:A63P;ENSP00000423142:A63P	ENSP00000286733:A63P	A	-	1	0	NAAA	77080940	0.015000	0.18098	0.003000	0.11579	0.018000	0.09664	0.389000	0.20751	0.369000	0.24510	0.460000	0.39030	GCG		0.706	NAAA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000362843.4			14	53	0	0	0	0.479597	0	14	53					G	76861916	C	G	76861916	3	3	71	1	0	0	0	0	1	0	0	0	10127	768	27	5	939	5	NAAA	4	76861916	Missense_Mutation	SNP	C	TCGA-EJ-5525-01A-01D-1576-08		76861916	114292360	18	3682											
MTTP	4547	broad.mit.edu	37	chr4	100534280	100534280	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tggtgaaaggacttattctgCtaatagatcattctcaggta	12	14	9	6	0	3	2	2	1	2	1	4	3	3	3	0	3	1	2	0	3	5	6			TCGA-EJ-5525-01A-01D-1576-08	TCGA-EJ-5525-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3953b74a-6ac2-443c-9c61-be6894c76d92	800eb17e-206d-461a-8dad-15d3a09dfb9a	g.chr4:100534280C>A	ENST00000265517.5	+	15	2403	c.2200C>A	c.(2200-2202)Cta>Ata	p.L734I	MTTP_ENST00000457717.1_Missense_Mutation_p.L734I|RP11-766F14.1_ENST00000508578.1_RNA|MTTP_ENST00000511045.1_Missense_Mutation_p.L761I			P55157	MTP_HUMAN	microsomal triglyceride transfer protein	734					cholesterol homeostasis (GO:0042632)|lipid metabolic process (GO:0006629)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|protein lipidation (GO:0006497)|response to calcium ion (GO:0051592)|small molecule metabolic process (GO:0044281)|triglyceride metabolic process (GO:0006641)	basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|endoplasmic reticulum lumen (GO:0005788)|Golgi apparatus (GO:0005794)|membrane-bounded vesicle (GO:0031988)|microvillus membrane (GO:0031528)|receptor complex (GO:0043235)|rough endoplasmic reticulum (GO:0005791)	lipid binding (GO:0008289)|lipid transporter activity (GO:0005319)	p.L734I(1)		breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(14)|lung(19)|ovary(4)|prostate(5)|skin(1)|urinary_tract(1)	57				OV - Ovarian serous cystadenocarcinoma(123;6.04e-09)	Hesperetin(DB01094)|Lomitapide(DB08827)	ACTTATTCTGCTAATAGATCA	0.408																																						ENST00000457717.1																			1	Substitution - Missense(1)	p.L734I(1)	prostate(1)	breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(14)|lung(19)|ovary(4)|prostate(5)|skin(1)|urinary_tract(1)	57						c.(2200-2202)Cta>Ata		microsomal triglyceride transfer protein	Hesperetin(DB01094)						109	100	103					4																	100534280		2203	4300	6503	SO:0001583	missense	4547				lipid metabolic process|lipoprotein metabolic process	endoplasmic reticulum lumen	lipid binding|lipid transporter activity	g.chr4:100534280C>A		CCDS3651.1, CCDS75169.1	4q24	2008-02-05	2005-11-04	2005-11-04	ENSG00000138823	ENSG00000138823			7467	protein-coding gene	gene with protein product		157147	"microsomal triglyceride transfer protein (large polypeptide, 88kD)", "microsomal triglyceride transfer protein (large polypeptide, 88kDa)"	MTP		8111381	Standard	XM_005263025		Approved	ABL	uc003hvc.4	P55157	OTTHUMG00000131023	ENST00000265517.5:c.2200C>A	4.37:g.100534280C>A	ENSP00000265517:p.Leu734Ile					MTTP_ENST00000265517.5_Missense_Mutation_p.L734I|MTTP_ENST00000511045.1_Missense_Mutation_p.L761I|RP11-766F14.1_ENST00000508578.1_RNA	p.L734I	NM_000253.2	NP_000244.2	P55157	MTP_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;6.04e-09)	16	2456	+			734					A8K428|Q08AM4|Q6P5T3	Missense_Mutation	SNP	ENST00000265517.5	37	c.2200C>A	CCDS3651.1	.	.	.	.	.	.	.	.	.	.	C	19.11	3.764096	0.69878	.	.	ENSG00000138823	ENST00000511045;ENST00000457717;ENST00000265517	T;T;T	0.70164	-0.46;-0.44;-0.44	5.49	1.8	0.24995	.	0.000000	0.85682	D	0.000000	T	0.71558	0.3354	M	0.68952	2.095	0.45914	D	0.998757	B;D	0.62365	0.047;0.991	B;P	0.58928	0.052;0.848	T	0.66352	-0.5945	10	0.39692	T	0.17	-23.35	7.1113	0.25392	0.1217:0.6796:0.0:0.1986	.	761;734	E9PBP6;P55157	.;MTP_HUMAN	I	761;734;734	ENSP00000427679:L761I;ENSP00000400821:L734I;ENSP00000265517:L734I	ENSP00000265517:L734I	L	+	1	2	MTTP	100753303	1.000000	0.71417	0.976000	0.42696	0.987000	0.75469	1.485000	0.35519	0.020000	0.15106	-0.238000	0.12139	CTA		0.408	MTTP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253662.3			39	34	1	0	9.45814e-24	0.804634	1.04255e-23	39	34					A	100534280	C	A	100534280	3	1	71	1	0	0	0	0	1	0	0	0	9964	796	28	5	2258	5	MTTP	4	100534280	Missense_Mutation	SNP	C	TCGA-EJ-5525-01A-01D-1576-08	23672364	100534280	90619996	19	3683											
TACR3	6870	broad.mit.edu	37	chr4	104511030	104511030	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catggactccattctggtcaCggtgtacatactgctttgcc	7	13	9	12	1	2	0	1	0	1	0	3	1	3	1	2	3	4	2	2	3	2	4	rs553885967		TCGA-EJ-5525-01A-01D-1576-08	TCGA-EJ-5525-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3953b74a-6ac2-443c-9c61-be6894c76d92	800eb17e-206d-461a-8dad-15d3a09dfb9a	g.chr4:104511030C>T	ENST00000304883.2	-	5	1347	c.1207G>A	c.(1207-1209)Gtg>Atg	p.V403M	RP11-297P16.3_ENST00000512401.1_RNA|RP11-297P16.3_ENST00000502936.1_RNA	NM_001059.2	NP_001050.1	P29371	NK3R_HUMAN	tachykinin receptor 3	403					aging (GO:0007568)|hyperosmotic salinity response (GO:0042538)|positive regulation of blood pressure (GO:0045777)|positive regulation of heart rate (GO:0010460)|positive regulation of uterine smooth muscle contraction (GO:0070474)|regulation of dopamine metabolic process (GO:0042053)|regulation of feeding behavior (GO:0060259)|response to cocaine (GO:0042220)|response to estradiol (GO:0032355)|response to morphine (GO:0043278)|tachykinin receptor signaling pathway (GO:0007217)	cytoplasm (GO:0005737)|dendrite membrane (GO:0032590)|integral component of plasma membrane (GO:0005887)|neuronal cell body membrane (GO:0032809)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	tachykinin receptor activity (GO:0004995)	p.V403M(1)		breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51		Hepatocellular(203;0.217)		UCEC - Uterine corpus endometrioid carcinoma (10;0.22)|OV - Ovarian serous cystadenocarcinoma(123;3.4e-08)		ATTCTGGTCACGGTGTACATA	0.498																																						ENST00000304883.2																			1	Substitution - Missense(1)	p.V403M(1)	prostate(1)	breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51						c.(1207-1209)Gtg>Atg		tachykinin receptor 3							235	217	223					4																	104511030		2203	4300	6503	SO:0001583	missense	6870					integral to plasma membrane	tachykinin receptor activity	g.chr4:104511030C>T	M89473	CCDS3664.1	4q25	2012-08-08			ENSG00000169836	ENSG00000169836		"GPCR / Class A : Tachykinin receptors"	11528	protein-coding gene	gene with protein product	"neurokinin beta receptor"	162332				1374246	Standard	NM_001059		Approved	NK3R	uc003hxe.1	P29371	OTTHUMG00000131124	ENST00000304883.2:c.1207G>A	4.37:g.104511030C>T	ENSP00000303325:p.Val403Met					RP11-297P16.3_ENST00000502936.1_RNA|RP11-297P16.3_ENST00000512401.1_RNA	p.V403M	NM_001059.2	NP_001050.1	P29371	NK3R_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (10;0.22)|OV - Ovarian serous cystadenocarcinoma(123;3.4e-08)	5	1347	-		Hepatocellular(203;0.217)	403					Q0P510	Missense_Mutation	SNP	ENST00000304883.2	37	c.1207G>A	CCDS3664.1	.	.	.	.	.	.	.	.	.	.	C	17.86	3.491957	0.64074	.	.	ENSG00000169836	ENST00000304883	T	0.65732	-0.17	5.81	5.81	0.92471	.	0.070759	0.64402	D	0.000020	T	0.64427	0.2597	M	0.75447	2.3	0.46061	D	0.998848	D	0.53462	0.96	B	0.39465	0.3	T	0.71052	-0.4704	10	0.54805	T	0.06	.	19.0794	0.93175	0.0:1.0:0.0:0.0	.	403	P29371	NK3R_HUMAN	M	403	ENSP00000303325:V403M	ENSP00000303325:V403M	V	-	1	0	TACR3	104730479	0.958000	0.32768	0.981000	0.43875	0.972000	0.66771	1.867000	0.39499	2.746000	0.94184	0.591000	0.81541	GTG		0.498	TACR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253804.1	NM_001059		166	232	0	0	0	0.870114	0	166	232					T	104511030	C	T	104511030	3	4	71	1	0	0	0	0	1	0	0	0	15504	536	19	1	194	1	TACR3	4	104511030	Missense_Mutation	SNP	C	TCGA-EJ-5525-01A-01D-1576-08	3976750	104511030	86643246	20	3684											
ANK2	287	broad.mit.edu	37	chr4	114186063	114186063	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccctggcagcgtggtgagaCggcactacacatggcagccc	8	6	13	14	2	0	1	0	1	0	1	1	2	1	1	2	4	3	3	2	4	1	1			TCGA-EJ-5525-01A-01D-1576-08	TCGA-EJ-5525-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3953b74a-6ac2-443c-9c61-be6894c76d92	800eb17e-206d-461a-8dad-15d3a09dfb9a	g.chr4:114186063C>T	ENST00000357077.4	+	14	1450	c.1397C>T	c.(1396-1398)aCg>aTg	p.T466M	ANK2_ENST00000506722.1_Missense_Mutation_p.T445M|ANK2_ENST00000264366.6_Missense_Mutation_p.T466M|ANK2_ENST00000394537.3_Missense_Mutation_p.T466M	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	466					atrial cardiac muscle cell action potential (GO:0086014)|atrial cardiac muscle cell to AV node cell communication (GO:0086066)|atrial septum development (GO:0003283)|axon guidance (GO:0007411)|cardiac muscle contraction (GO:0060048)|cellular calcium ion homeostasis (GO:0006874)|cellular protein localization (GO:0034613)|membrane depolarization during SA node cell action potential (GO:0086046)|paranodal junction assembly (GO:0030913)|positive regulation of calcium ion transmembrane transporter activity (GO:1901021)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cation channel activity (GO:2001259)|positive regulation of gene expression (GO:0010628)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein localization to cell surface (GO:0034394)|protein localization to endoplasmic reticulum (GO:0070972)|protein localization to M-band (GO:0036309)|protein localization to organelle (GO:0033365)|protein localization to plasma membrane (GO:0072659)|protein localization to T-tubule (GO:0036371)|protein stabilization (GO:0050821)|protein targeting to plasma membrane (GO:0072661)|regulation of calcium ion transmembrane transporter activity (GO:1901019)|regulation of calcium ion transport (GO:0051924)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to methylmercury (GO:0051597)|SA node cell action potential (GO:0086015)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|T-tubule organization (GO:0033292)|ventricular cardiac muscle cell action potential (GO:0086005)	A band (GO:0031672)|basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intracellular (GO:0005622)|M band (GO:0031430)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|potassium channel regulator activity (GO:0015459)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)	p.T466M(1)		NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		CGTGGTGAGACGGCACTACAC	0.517																																						ENST00000357077.4																			1	Substitution - Missense(1)	p.T466M(1)	prostate(1)	NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248						c.(1396-1398)aCg>aTg		ankyrin 2, neuronal							65	54	57					4																	114186063		2196	4288	6484	SO:0001583	missense	287				axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding	g.chr4:114186063C>T	M37123	CCDS3702.1, CCDS43261.1, CCDS54796.1	4q25-q26	2014-09-17	2003-03-12		ENSG00000145362	ENSG00000145362		"Ankyrin repeat domain containing"	493	protein-coding gene	gene with protein product		106410	"long (electrocardiographic) QT syndrome 4"	LQT4		7485162, 12571597	Standard	NM_001148		Approved		uc003ibe.4	Q01484	OTTHUMG00000132912	ENST00000357077.4:c.1397C>T	4.37:g.114186063C>T	ENSP00000349588:p.Thr466Met					ANK2_ENST00000264366.6_Missense_Mutation_p.T466M|ANK2_ENST00000394537.3_Missense_Mutation_p.T466M|ANK2_ENST00000506722.1_Missense_Mutation_p.T445M	p.T466M	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)	14	1450	+		Ovarian(17;0.0448)|Hepatocellular(203;0.218)	466					Q01485|Q08AC7|Q08AC8|Q7Z3L5	Missense_Mutation	SNP	ENST00000357077.4	37	c.1397C>T	CCDS3702.1	.	.	.	.	.	.	.	.	.	.	C	31	5.080018	0.94050	.	.	ENSG00000145362	ENST00000503271;ENST00000503423;ENST00000506722;ENST00000504454;ENST00000394537;ENST00000357077;ENST00000264366;ENST00000343056	T;T;T;T;T;T;T	0.30981	1.51;1.51;1.51;1.51;1.51;1.51;1.51	5.57	5.57	0.84162	Ankyrin repeat-containing domain (3);	0.000000	0.56097	D	0.000028	T	0.68210	0.2976	M	0.94063	3.49	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.999;0.984;0.996;0.992;0.97	T	0.77056	-0.2729	10	0.87932	D	0	.	19.5344	0.95244	0.0:1.0:0.0:0.0	.	466;466;466;445;445	Q01484;Q01484-2;Q01484-4;Q01484-5;F8WEF9	ANK2_HUMAN;.;.;.;.	M	445;445;445;481;466;466;466;445	ENSP00000423799:T445M;ENSP00000421011:T445M;ENSP00000421067:T445M;ENSP00000424722:T481M;ENSP00000378044:T466M;ENSP00000349588:T466M;ENSP00000264366:T466M	ENSP00000264366:T466M	T	+	2	0	ANK2	114405512	1.000000	0.71417	0.959000	0.39883	0.980000	0.70556	6.011000	0.70760	2.618000	0.88619	0.585000	0.79938	ACG		0.517	ANK2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256422.2	NM_001148		3	5	0	0	0	0.115264	0	3	5					T	114186063	C	T	114186063	3	4	71	1	0	0	0	0	1	0	0	0	621	536	19	1	1476	1	ANK2	4	114186063	Missense_Mutation	SNP	C	TCGA-EJ-5525-01A-01D-1576-08	9675033	114186063	76968213	21	3685											
MAML3	55534	broad.mit.edu	37	chr4	141074098	141074098	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggtgctgctgtttgccggtGccggcgcccgatttcttggc	1	12	16	12	4	1	0	0	0	1	0	1	1	1	0	3	4	4	3	3	4	0	3			TCGA-EJ-5525-01A-01D-1576-08	TCGA-EJ-5525-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3953b74a-6ac2-443c-9c61-be6894c76d92	800eb17e-206d-461a-8dad-15d3a09dfb9a	g.chr4:141074098G>T	ENST00000509479.2	-	1	1240	c.384C>A	c.(382-384)ggC>ggA	p.G128G		NM_018717.4	NP_061187			mastermind-like 3 (Drosophila)									p.G128G(4)		breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25	all_hematologic(180;0.162)					GTTTGCCGGTGCCGGCGCCCG	0.677																																						ENST00000509479.2																			4	Substitution - coding silent(4)	p.G128G(4)	prostate(4)	breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25						c.(382-384)ggC>ggA		mastermind-like 3 (Drosophila)							31	37	35					4																	141074098		2017	4181	6198	SO:0001819	synonymous_variant	55534				Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity	g.chr4:141074098G>T	AB058719	CCDS54805.1	4q31.1	2014-08-12	2003-09-24		ENSG00000196782	ENSG00000196782			16272	protein-coding gene	gene with protein product	"mastermind (drosophila)-like 3"	608991	"trinucleotide repeat containing 3"	TNRC3		12370315, 12386158	Standard	NM_018717		Approved	KIAA1816, MAM2, CAGH3, GDN	uc021xsg.1	Q96JK9	OTTHUMG00000161441	ENST00000509479.2:c.384C>A	4.37:g.141074098G>T							p.G128G	NM_018717.4	NP_061187.2	Q96JK9	MAML3_HUMAN			1	1240	-	all_hematologic(180;0.162)		128						Silent	SNP	ENST00000509479.2	37	c.384C>A	CCDS54805.1	.	.	.	.	.	.	.	.	.	.	G	10.49	1.365799	0.24684	.	.	ENSG00000196782	ENST00000502696	.	.	.	3.54	0.431	0.16523	.	.	.	.	.	T	0.51839	0.1698	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.39121	-0.9629	4	.	.	.	.	6.3203	0.21215	0.2073:0.2276:0.5651:0.0	.	.	.	.	E	9	.	.	A	-	2	0	MAML3	141293548	0.982000	0.34865	0.949000	0.38748	0.776000	0.43924	2.689000	0.46993	0.126000	0.18424	0.491000	0.48974	GCA		0.677	MAML3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364934.2			5	31	1	0	0.000602214	0.184627	0.000628116	5	31					T	141074098	G	T	141074098	2	4	71	1	0	0	0	0	0	0	0	1	9207	1306	46	5		5	MAML3	4	141074098	Silent	SNP	G	TCGA-EJ-5525-01A-01D-1576-08	26888035	141074098	50080178	22	3686											
MEF2C	4208	broad.mit.edu	37	chr5	88027676	88027676	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgttcaagttaccaggtgagAccagcagacctggtgagttt	10	11	12	8	0	1	3	1	2	0	2	1	4	1	3	3	2	2	4	3	2	2	3			TCGA-EJ-5525-01A-01D-1576-08	TCGA-EJ-5525-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3953b74a-6ac2-443c-9c61-be6894c76d92	800eb17e-206d-461a-8dad-15d3a09dfb9a	g.chr5:88027676A>G	ENST00000437473.2	-	7	1097	c.680T>C	c.(679-681)gTc>gCc	p.V227A	MEF2C_ENST00000504921.2_Missense_Mutation_p.V227A|MEF2C_ENST00000506554.1_Missense_Mutation_p.V227A|MEF2C_ENST00000514015.1_Missense_Mutation_p.V227A|MEF2C_ENST00000340208.5_Missense_Mutation_p.V245A|MEF2C_ENST00000424173.2_Missense_Mutation_p.V225A|MEF2C_ENST00000503554.1_5'Flank|MEF2C_ENST00000510942.1_Missense_Mutation_p.V227A|MEF2C_ENST00000508569.1_Missense_Mutation_p.V227A|MEF2C_ENST00000514028.1_Missense_Mutation_p.V227A|MEF2C_ENST00000539796.1_Missense_Mutation_p.V179A	NM_001193350.1|NM_002397.4	NP_001180279.1|NP_002388.2	Q06413	MEF2C_HUMAN	myocyte enhancer factor 2C	227					apoptotic process (GO:0006915)|B cell homeostasis (GO:0001782)|B cell proliferation (GO:0042100)|B cell receptor signaling pathway (GO:0050853)|blood vessel development (GO:0001568)|blood vessel remodeling (GO:0001974)|cardiac muscle hypertrophy in response to stress (GO:0014898)|cardiac ventricle formation (GO:0003211)|cartilage morphogenesis (GO:0060536)|cell morphogenesis involved in neuron differentiation (GO:0048667)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|cellular response to fluid shear stress (GO:0071498)|cellular response to glucose stimulus (GO:0071333)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to parathyroid hormone stimulus (GO:0071374)|cellular response to retinoic acid (GO:0071300)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cellular response to trichostatin A (GO:0035984)|chondrocyte differentiation (GO:0002062)|dentate gyrus development (GO:0021542)|embryonic viscerocranium morphogenesis (GO:0048703)|endochondral ossification (GO:0001958)|epithelial cell proliferation involved in renal tubule morphogenesis (GO:2001013)|germinal center formation (GO:0002467)|glomerulus morphogenesis (GO:0072102)|heart development (GO:0007507)|heart looping (GO:0001947)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|MAPK cascade (GO:0000165)|melanocyte differentiation (GO:0030318)|monocyte differentiation (GO:0030224)|muscle cell differentiation (GO:0042692)|muscle cell fate determination (GO:0007521)|muscle organ development (GO:0007517)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|myotube differentiation (GO:0014902)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of gene expression (GO:0010629)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of ossification (GO:0030279)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nephron tubule epithelial cell differentiation (GO:0072160)|nervous system development (GO:0007399)|neural crest cell differentiation (GO:0014033)|neuron development (GO:0048666)|neuron differentiation (GO:0030182)|neuron migration (GO:0001764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|osteoblast differentiation (GO:0001649)|outflow tract morphogenesis (GO:0003151)|palate development (GO:0060021)|platelet formation (GO:0030220)|positive regulation of alkaline phosphatase activity (GO:0010694)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of behavioral fear response (GO:2000987)|positive regulation of bone mineralization (GO:0030501)|positive regulation of cardiac muscle cell differentiation (GO:2000727)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|positive regulation of cell proliferation in bone marrow (GO:0071864)|positive regulation of gene expression (GO:0010628)|positive regulation of macrophage apoptotic process (GO:2000111)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of myoblast differentiation (GO:0045663)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein homodimerization activity (GO:0090073)|positive regulation of skeletal muscle cell differentiation (GO:2001016)|positive regulation of skeletal muscle tissue development (GO:0048643)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|primary heart field specification (GO:0003138)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of dendritic spine development (GO:0060998)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of germinal center formation (GO:0002634)|regulation of megakaryocyte differentiation (GO:0045652)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of neuron apoptotic process (GO:0043523)|regulation of neurotransmitter secretion (GO:0046928)|regulation of sarcomere organization (GO:0060297)|regulation of synapse assembly (GO:0051963)|regulation of synaptic activity (GO:0060025)|regulation of synaptic plasticity (GO:0048167)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of transcription, DNA-templated (GO:0006355)|renal tubule morphogenesis (GO:0061333)|response to ischemia (GO:0002931)|response to virus (GO:0009615)|response to vitamin E (GO:0033197)|secondary heart field specification (GO:0003139)|sinoatrial valve morphogenesis (GO:0003185)|skeletal muscle tissue development (GO:0007519)|smooth muscle cell differentiation (GO:0051145)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|ventricular cardiac muscle cell differentiation (GO:0055012)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)|sarcomere (GO:0030017)	activating transcription factor binding (GO:0033613)|AT DNA binding (GO:0003680)|chromatin binding (GO:0003682)|core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|miRNA binding (GO:0035198)|protein heterodimerization activity (GO:0046982)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity (GO:0000983)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)	p.V225A(1)|p.V227A(1)		breast(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	40		all_cancers(142;6.67e-05)|all_epithelial(76;7.77e-07)|Lung NSC(167;0.00566)|all_lung(232;0.00732)|Colorectal(57;0.0959)|Ovarian(174;0.1)		OV - Ovarian serous cystadenocarcinoma(54;1.04e-33)|Epithelial(54;1.6e-28)|all cancers(79;2.9e-25)		ACCAGGTGAGACCAGCAGACC	0.413										HNSCC(66;0.2)																												ENST00000504921.2																			2	Substitution - Missense(2)	p.V225A(1)|p.V227A(1)	prostate(2)	breast(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	40						c.(679-681)gTc>gCc		myocyte enhancer factor 2C							88	85	86					5																	88027676		1862	4089	5951	SO:0001583	missense	4208				apoptosis|B cell proliferation|innate immune response|learning or memory|muscle cell differentiation|muscle organ development|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|neuron development|positive regulation of muscle cell differentiation|positive regulation of survival gene product expression|positive regulation of transcription from RNA polymerase II promoter|regulation of germinal center formation|regulation of megakaryocyte differentiation|regulation of synaptic activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	nuclear speck	activating transcription factor binding|protein heterodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	g.chr5:88027676A>G	AL833268	CCDS47244.1, CCDS47245.1, CCDS54877.1, CCDS54878.1	5q14.3	2013-07-03	2007-04-24		ENSG00000081189	ENSG00000081189		"Myocyte enhancer factors"	6996	protein-coding gene	gene with protein product		600662				8455629	Standard	NM_002397		Approved		uc003kjl.3	Q06413	OTTHUMG00000162634	ENST00000437473.2:c.680T>C	5.37:g.88027676A>G	ENSP00000396219:p.Val227Ala	HNSCC(66;0.2)				MEF2C_ENST00000514015.1_Missense_Mutation_p.V227A|MEF2C_ENST00000340208.5_Missense_Mutation_p.V245A|MEF2C_ENST00000437473.2_Missense_Mutation_p.V227A|MEF2C_ENST00000508569.1_Missense_Mutation_p.V227A|MEF2C_ENST00000506554.1_Missense_Mutation_p.V227A|MEF2C_ENST00000424173.2_Missense_Mutation_p.V225A|MEF2C_ENST00000510942.1_Missense_Mutation_p.V227A|MEF2C_ENST00000539796.1_Missense_Mutation_p.V179A|MEF2C_ENST00000514028.1_Missense_Mutation_p.V227A	p.V227A			Q06413	MEF2C_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;1.04e-33)|Epithelial(54;1.6e-28)|all cancers(79;2.9e-25)	7	1352	-		all_cancers(142;6.67e-05)|all_epithelial(76;7.77e-07)|Lung NSC(167;0.00566)|all_lung(232;0.00732)|Colorectal(57;0.0959)|Ovarian(174;0.1)	227					C9JMZ0|D7F7N5|F8W7V7	Missense_Mutation	SNP	ENST00000437473.2	37	c.680T>C	CCDS47245.1	.	.	.	.	.	.	.	.	.	.	A	13.94	2.387572	0.42308	.	.	ENSG00000081189	ENST00000340208;ENST00000424173;ENST00000504921;ENST00000514028;ENST00000437473;ENST00000510942;ENST00000506554;ENST00000508569;ENST00000514015;ENST00000539796;ENST00000513252;ENST00000506716	T;T;T;T;T;T;T;T;T;T;D;D	0.87029	0.14;0.12;0.19;0.17;0.17;0.11;-0.16;-0.21;-0.11;0.49;-2.2;-2.07	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	D	0.90448	0.7009	L	0.57536	1.79	0.80722	D	1	P;P;D;D	0.62365	0.76;0.732;0.98;0.991	B;P;D;P	0.69824	0.269;0.561;0.966;0.835	D	0.86539	0.1827	10	0.02654	T	1	-4.8828	16.8222	0.85835	1.0:0.0:0.0:0.0	.	225;245;227;227	C9JMZ0;F8W7V7;Q06413;Q06413-2	.;.;MEF2C_HUMAN;.	A	245;225;227;227;227;227;227;227;227;179;225;225	ENSP00000340874:V245A;ENSP00000389610:V225A;ENSP00000421925:V227A;ENSP00000426665:V227A;ENSP00000396219:V227A;ENSP00000422390:V227A;ENSP00000425636:V227A;ENSP00000423597:V227A;ENSP00000424606:V227A;ENSP00000441153:V179A;ENSP00000423826:V225A;ENSP00000423656:V225A	ENSP00000340874:V245A	V	-	2	0	MEF2C	88063432	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.795000	0.69074	2.371000	0.80710	0.533000	0.62120	GTC		0.413	MEF2C-003	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000369817.1	NM_002397		28	45	0	0	0	0.693898	0	28	45					G	88027676	A	G	88027676	3	3	71	1	0	0	0	0	1	0	0	0	9457	275	10	4	761	4	MEF2C	5	88027676	Missense_Mutation	SNP	A	TCGA-EJ-5525-01A-01D-1576-08		88027676	92887584	23	3687											
AIM1	202	broad.mit.edu	37	chr6	106969054	106969054	+	Nonsense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagtacatcacactccagttTgaaaagtccaagccacatgg	15	8	7	11	0	1	1	1	1	0	0	3	1	3	1	3	1	2	2	3	1	5	2			TCGA-EJ-5525-01A-01D-1576-08	TCGA-EJ-5525-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3953b74a-6ac2-443c-9c61-be6894c76d92	800eb17e-206d-461a-8dad-15d3a09dfb9a	g.chr6:106969054T>A	ENST00000369066.3	+	2	3234	c.2747T>A	c.(2746-2748)tTg>tAg	p.L916*		NM_001624.2	NP_001615	Q9UMX9	S45A2_HUMAN	absent in melanoma 1	0					developmental pigmentation (GO:0048066)|melanin biosynthetic process (GO:0042438)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)		p.L916*(1)		breast(8)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(7)|large_intestine(13)|lung(20)|ovary(5)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	69	Breast(9;0.0138)|all_epithelial(6;0.169)	all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473)	Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305)	all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858)		CACTCCAGTTTGAAAAGTCCA	0.423																																						ENST00000369066.3																			1	Substitution - Nonsense(1)	p.L916*(1)	prostate(1)	breast(8)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(7)|large_intestine(13)|lung(20)|ovary(5)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	69						c.(2746-2748)tTg>tAg		absent in melanoma 1							92	104	99					6																	106969054		2203	4300	6503	SO:0001587	stop_gained	202						sugar binding	g.chr6:106969054T>A	U83115	CCDS34506.1	6q21	2014-01-29			ENSG00000112297	ENSG00000112297			356	protein-coding gene	gene with protein product	"suppression of tumorigenicity 4", "beta-gamma crystallin domain containing 1"	601797	"suppression of tumorigenicity 4 (malignant melanoma)"	ST4		1680551, 12693952	Standard	NM_001624		Approved	CRYBG1	uc003prh.3	Q9Y4K1	OTTHUMG00000015302	ENST00000369066.3:c.2747T>A	6.37:g.106969054T>A	ENSP00000358062:p.Leu916*						p.L916*	NM_001624.2	NP_001615.1	Q9Y4K1	AIM1_HUMAN	Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305)	all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858)	2	3234	+	Breast(9;0.0138)|all_epithelial(6;0.169)	all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473)	916					Q6P2P0|Q9BTM3	Nonsense_Mutation	SNP	ENST00000369066.3	37	c.2747T>A	CCDS34506.1	.	.	.	.	.	.	.	.	.	.	T	44	10.952703	0.99494	.	.	ENSG00000112297	ENST00000285105;ENST00000369066	.	.	.	5.91	5.91	0.95273	.	1.673730	0.02973	N	0.144619	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.8973	0.70654	0.0:0.0:0.0:1.0	.	.	.	.	X	1324;916	.	ENSP00000285105:L1324X	L	+	2	0	AIM1	107075747	0.997000	0.39634	0.885000	0.34714	0.387000	0.30353	3.516000	0.53436	2.251000	0.74343	0.533000	0.62120	TTG		0.423	AIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041669.1			11	167	0	0	0	0.38729	0	11	167					A	106969054	T	A	106969054	4	1	71	1	0	0	0	0	0	1	0	0	430	1821	63	5	2753	5	AIM1	6	106969054	Nonsense_Mutation	SNP	T	TCGA-EJ-5525-01A-01D-1576-08		106969054	64146013	24	3688											
DCBLD1	285761	broad.mit.edu	37	chr6	117824981	117824981	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggatagtggcacaatgacatCtaagaattatcccgggacct	13	9	10	9	1	1	2	0	1	1	1	2	4	2	4	2	3	0	1	2	3	5	3			TCGA-EJ-5525-01A-01D-1576-08	TCGA-EJ-5525-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3953b74a-6ac2-443c-9c61-be6894c76d92	800eb17e-206d-461a-8dad-15d3a09dfb9a	g.chr6:117824981C>G	ENST00000338728.5	+	2	284	c.164C>G	c.(163-165)tCt>tGt	p.S55C	GOPC_ENST00000467125.1_Intron|DCBLD1_ENST00000368503.4_Missense_Mutation_p.S55C|DCBLD1_ENST00000296955.8_Missense_Mutation_p.S55C			Q8N8Z6	DCBD1_HUMAN	discoidin, CUB and LCCL domain containing 1	55	CUB. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)		p.S55C(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(15)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	26		all_cancers(87;0.171)		GBM - Glioblastoma multiforme(226;0.0447)|OV - Ovarian serous cystadenocarcinoma(136;0.0921)|all cancers(137;0.125)		ACAATGACATCTAAGAATTAT	0.428																																						ENST00000338728.5																			1	Substitution - Missense(1)	p.S55C(1)	prostate(1)	breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(15)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	26						c.(163-165)tCt>tGt		discoidin, CUB and LCCL domain containing 1							139	132	135					6																	117824981		2203	4300	6503	SO:0001583	missense	285761				cell adhesion	integral to membrane		g.chr6:117824981C>G	AK055462	CCDS34522.1	6q22.31	2003-06-20			ENSG00000164465	ENSG00000164465			21479	protein-coding gene	gene with protein product							Standard	NM_173674		Approved	MGC46341, dJ94G16.1	uc003pxs.3	Q8N8Z6	OTTHUMG00000015455	ENST00000338728.5:c.164C>G	6.37:g.117824981C>G	ENSP00000342422:p.Ser55Cys					DCBLD1_ENST00000368503.4_Missense_Mutation_p.S55C|GOPC_ENST00000467125.1_Intron|DCBLD1_ENST00000296955.8_Missense_Mutation_p.S55C	p.S55C			Q8N8Z6	DCBD1_HUMAN		GBM - Glioblastoma multiforme(226;0.0447)|OV - Ovarian serous cystadenocarcinoma(136;0.0921)|all cancers(137;0.125)	2	284	+		all_cancers(87;0.171)	55			CUB.		Q5H992|Q8IYK5|Q8N7L9|Q96NH2	Missense_Mutation	SNP	ENST00000338728.5	37	c.164C>G		.	.	.	.	.	.	.	.	.	.	C	19.71	3.878412	0.72294	.	.	ENSG00000164465	ENST00000296955;ENST00000368503;ENST00000338728	T;T;T	0.32272	1.46;1.46;1.46	5.09	5.09	0.68999	CUB (5);	0.000000	0.85682	D	0.000000	T	0.69922	0.3165	H	0.98426	4.23	0.41855	D	0.990196	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.82313	-0.0519	10	0.87932	D	0	-11.7914	19.0393	0.92992	0.0:1.0:0.0:0.0	.	55;55	Q8N8Z6-2;Q8N8Z6	.;DCBD1_HUMAN	C	55	ENSP00000296955:S55C;ENSP00000357489:S55C;ENSP00000342422:S55C	ENSP00000296955:S55C	S	+	2	0	DCBLD1	117931674	1.000000	0.71417	1.000000	0.80357	0.570000	0.35934	5.744000	0.68664	2.807000	0.96579	0.557000	0.71058	TCT		0.428	DCBLD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000041979.2	NM_173674		65	99	0	0	0	0.870114	0	65	99					G	117824981	C	G	117824981	3	3	71	1	0	0	0	0	1	0	0	0	4280	913	32	5	170	5	DCBLD1	6	117824981	Missense_Mutation	SNP	C	TCGA-EJ-5525-01A-01D-1576-08	10855927	117824981	53290086	25	3689											
ENPP1	5167	broad.mit.edu	37	chr6	132195477	132195477	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aatgtattttcaaatatgcaAgtgagtaaacctattatact	16	15	5	5	0	1	1	1	1	0	0	1	1	1	1	1	0	3	3	1	0	10	8			TCGA-EJ-5525-01A-01D-1576-08	TCGA-EJ-5525-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3953b74a-6ac2-443c-9c61-be6894c76d92	800eb17e-206d-461a-8dad-15d3a09dfb9a	g.chr6:132195477A>G	ENST00000360971.2	+	16	1655	c.1635A>G	c.(1633-1635)caA>caG	p.Q545Q		NM_006208.2	NP_006199.2	P22413	ENPP1_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 1	545	Phosphodiesterase.				3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|ATP catabolic process (GO:0006200)|biomineral tissue development (GO:0031214)|bone remodeling (GO:0046849)|cellular phosphate ion homeostasis (GO:0030643)|cellular response to insulin stimulus (GO:0032869)|generation of precursor metabolites and energy (GO:0006091)|immune response (GO:0006955)|inorganic diphosphate transport (GO:0030505)|negative regulation of cell growth (GO:0030308)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of glucose import (GO:0046325)|negative regulation of glycogen biosynthetic process (GO:0045719)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of ossification (GO:0030279)|negative regulation of protein autophosphorylation (GO:0031953)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleoside triphosphate catabolic process (GO:0009143)|phosphate-containing compound metabolic process (GO:0006796)|regulation of bone mineralization (GO:0030500)|riboflavin metabolic process (GO:0006771)|sequestering of triglyceride (GO:0030730)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	3'-phosphoadenosine 5'-phosphosulfate binding (GO:0050656)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|insulin receptor binding (GO:0005158)|NADH pyrophosphatase activity (GO:0035529)|nucleic acid binding (GO:0003676)|nucleoside-triphosphate diphosphatase activity (GO:0047429)|nucleotide diphosphatase activity (GO:0004551)|phosphodiesterase I activity (GO:0004528)|polysaccharide binding (GO:0030247)|protein homodimerization activity (GO:0042803)|scavenger receptor activity (GO:0005044)|zinc ion binding (GO:0008270)	p.Q493Q(1)		autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(22)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	46	Breast(56;0.0505)			GBM - Glioblastoma multiforme(226;0.0216)|OV - Ovarian serous cystadenocarcinoma(155;0.022)	Amifostine(DB01143)|Ribavirin(DB00811)	CAAATATGCAAGTGAGTAAAC	0.279																																					Colon(104;336 1535 5856 11019 33782)	ENST00000360971.2																			1	Substitution - coding silent(1)	p.Q493Q(1)	prostate(1)	autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(22)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	46						c.e16+1		ectonucleotide pyrophosphatase/phosphodiesterase 1	Amifostine(DB01143)|Ribavirin(DB00811)						82	89	87					6																	132195477		2203	4280	6483	SO:0001630	splice_region_variant	5167				3'-phosphoadenosine 5'-phosphosulfate metabolic process|biomineral tissue development|cellular phosphate ion homeostasis|cellular response to insulin stimulus|generation of precursor metabolites and energy|immune response|inorganic diphosphate transport|negative regulation of cell growth|negative regulation of fat cell differentiation|negative regulation of glucose import|negative regulation of glycogen biosynthetic process|negative regulation of insulin receptor signaling pathway|negative regulation of protein autophosphorylation|nucleoside triphosphate catabolic process|phosphate metabolic process|sequestering of triglyceride|water-soluble vitamin metabolic process	basolateral plasma membrane|cell surface|extracellular space|integral to membrane	ATP binding|insulin receptor binding|metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|protein homodimerization activity|scavenger receptor activity	g.chr6:132195477A>G	M57736	CCDS5150.2	6q22-q23	2008-02-07			ENSG00000197594	ENSG00000197594	3.1.4.1, 3.6.1.9		3356	protein-coding gene	gene with protein product		173335		NPPS, M6S1, PDNP1		1315502	Standard	NM_006208		Approved	PC-1, PCA1	uc011ecf.2	P22413	OTTHUMG00000015572	ENST00000360971.2:c.1635+1A>G	6.37:g.132195477A>G							p.Q545_splice	NM_006208.2	NP_006199.2	P22413	ENPP1_HUMAN		GBM - Glioblastoma multiforme(226;0.0216)|OV - Ovarian serous cystadenocarcinoma(155;0.022)	16	1655	+	Breast(56;0.0505)		545			Phosphodiesterase.		Q5T9R6|Q9NPZ3|Q9P1P6|Q9UP61|Q9Y6K3	Splice_Site	SNP	ENST00000360971.2	37	c.1635_splice	CCDS5150.2																																																																																				0.279	ENPP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042238.2		Silent	10	252	0	0	0	0.361761	0	10	252					G	132195477	A	G	132195477	5	3	71	1	0	0	0	0	0	0	1	0	5129	86	3	4	1697	4	ENPP1	6	132195477	Splice_Site	SNP	A	TCGA-EJ-5525-01A-01D-1576-08	14370496	132195477	38919590	26	3690											
OSBPL3	26031	broad.mit.edu	37	chr7	24874112	24874112	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgactcctcaccatccttTccagggggctgggaatctgc	6	10	11	14	0	2	1	1	1	1	0	5	2	5	2	4	3	1	2	4	3	1	1			TCGA-EJ-5525-01A-01D-1576-08	TCGA-EJ-5525-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3953b74a-6ac2-443c-9c61-be6894c76d92	800eb17e-206d-461a-8dad-15d3a09dfb9a	g.chr7:24874112T>C	ENST00000313367.2	-	15	2190	c.1739A>G	c.(1738-1740)gAa>gGa	p.E580G	OSBPL3_ENST00000396431.1_Missense_Mutation_p.E549G|OSBPL3_ENST00000352860.1_Missense_Mutation_p.E549G|OSBPL3_ENST00000409069.1_Missense_Mutation_p.E513G|OSBPL3_ENST00000353930.1_Missense_Mutation_p.E544G|OSBPL3_ENST00000396429.1_Missense_Mutation_p.E544G|OSBPL3_ENST00000431825.2_Missense_Mutation_p.E513G	NM_015550.2	NP_056365.1	Q9H4L5	OSBL3_HUMAN	oxysterol binding protein-like 3	580					lipid transport (GO:0006869)	cytosol (GO:0005829)|membrane (GO:0016020)|nuclear membrane (GO:0031965)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)	cholesterol binding (GO:0015485)	p.E580G(1)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(19)|prostate(1)|skin(3)|urinary_tract(1)	43						CACCATCCTTTCCAGGGGGCT	0.642																																						ENST00000313367.2																			1	Substitution - Missense(1)	p.E580G(1)	prostate(1)	breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(19)|prostate(1)|skin(3)|urinary_tract(1)	43						c.(1738-1740)gAa>gGa		oxysterol binding protein-like 3							63	66	65					7																	24874112		2203	4300	6503	SO:0001583	missense	26031				lipid transport		lipid binding|protein binding	g.chr7:24874112T>C	AB014604	CCDS5390.1, CCDS5391.1, CCDS5392.1, CCDS47564.1	7p15.3	2013-01-10			ENSG00000070882	ENSG00000070882		"Oxysterol binding proteins", "Pleckstrin homology (PH) domain containing"	16370	protein-coding gene	gene with protein product		606732		OSBP3		9734811	Standard	XM_005249698		Approved	ORP-3, ORP3, KIAA0704	uc003sxf.3	Q9H4L5	OTTHUMG00000023277	ENST00000313367.2:c.1739A>G	7.37:g.24874112T>C	ENSP00000315410:p.Glu580Gly					OSBPL3_ENST00000409069.1_Missense_Mutation_p.E513G|OSBPL3_ENST00000396431.1_Missense_Mutation_p.E549G|OSBPL3_ENST00000431825.2_Missense_Mutation_p.E513G|OSBPL3_ENST00000352860.1_Missense_Mutation_p.E549G|OSBPL3_ENST00000353930.1_Missense_Mutation_p.E544G|OSBPL3_ENST00000396429.1_Missense_Mutation_p.E544G	p.E580G	NM_015550.2	NP_056365.1	Q9H4L5	OSBL3_HUMAN			15	2190	-			580					A4D167|A4D168|A4D169|A4D170|A4D171|A4D172|B8ZZ79|B8ZZP0|O14591|O43357|O43358|Q8N702|Q8N703|Q8N704|Q8NFH0|Q8NFH1|Q8NI12|Q8NI13|Q9BZF4|Q9UED6	Missense_Mutation	SNP	ENST00000313367.2	37	c.1739A>G	CCDS5390.1	.	.	.	.	.	.	.	.	.	.	T	22.5	4.299689	0.81136	.	.	ENSG00000070882	ENST00000313367;ENST00000352860;ENST00000353930;ENST00000431825;ENST00000396431;ENST00000396429;ENST00000409069	T;T;T;T;T;T;T	0.34859	1.34;1.34;1.34;1.34;1.34;1.34;1.34	5.85	5.85	0.93711	.	0.095761	0.64402	D	0.000001	T	0.64114	0.2569	M	0.82716	2.605	0.80722	D	1	D;D;D;D;D;D	0.69078	0.997;0.992;0.985;0.985;0.968;0.988	D;D;P;P;P;D	0.73380	0.98;0.951;0.856;0.856;0.738;0.911	T	0.69680	-0.5080	10	0.87932	D	0	-25.5918	16.2392	0.82399	0.0:0.0:0.0:1.0	.	513;544;513;549;544;580	Q9H4L5-8;Q9H4L5-7;Q9H4L5-4;Q9H4L5-2;Q9H4L5-3;Q9H4L5	.;.;.;.;.;OSBL3_HUMAN	G	580;549;544;513;549;544;513	ENSP00000315410:E580G;ENSP00000315331:E549G;ENSP00000315277:E544G;ENSP00000389779:E513G;ENSP00000379708:E549G;ENSP00000379706:E544G;ENSP00000386953:E513G	ENSP00000315410:E580G	E	-	2	0	OSBPL3	24840637	1.000000	0.71417	0.929000	0.37066	0.172000	0.22775	7.443000	0.80521	2.239000	0.73571	0.383000	0.25322	GAA		0.642	OSBPL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214085.2			66	116	0	0	0	0.870114	0	66	116					C	24874112	T	C	24874112	3	2	71	1	0	0	0	0	1	0	0	0	11279	1783	62	4	960	4	OSBPL3	7	24874112	Missense_Mutation	SNP	T	TCGA-EJ-5525-01A-01D-1576-08		24874112	134264551	27	3691											
TNKS	8658	broad.mit.edu	37	chr8	9605603	9605603	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	caacagataagtgggcgtttActcccctccatgaagcagcc	11	8	9	13	1	0	2	0	1	0	1	2	2	2	2	4	1	4	2	4	1	4	3			TCGA-EJ-5525-01A-01D-1576-08	TCGA-EJ-5525-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3953b74a-6ac2-443c-9c61-be6894c76d92	800eb17e-206d-461a-8dad-15d3a09dfb9a	g.chr8:9605603A>T	ENST00000310430.6	+	18	2739	c.2713A>T	c.(2713-2715)Act>Tct	p.T905S	TNKS_ENST00000518281.1_Missense_Mutation_p.T668S	NM_003747.2	NP_003738.2	O95271	TNKS1_HUMAN	tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase	905					mitotic nuclear division (GO:0007067)|mitotic spindle organization (GO:0007052)|mRNA transport (GO:0051028)|negative regulation of DNA binding (GO:0043392)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of telomere maintenance via telomerase (GO:0032212)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein ADP-ribosylation (GO:0006471)|protein auto-ADP-ribosylation (GO:0070213)|protein localization to chromosome, telomeric region (GO:0070198)|protein poly-ADP-ribosylation (GO:0070212)|protein polyubiquitination (GO:0000209)|protein transport (GO:0015031)|regulation of telomere maintenance via telomerase (GO:0032210)|spindle assembly (GO:0051225)|Wnt signaling pathway (GO:0016055)	chromosome, centromeric region (GO:0000775)|chromosome, telomeric region (GO:0000781)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nuclear chromosome, telomeric region (GO:0000784)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleus (GO:0005634)|pericentriolar material (GO:0000242)	NAD+ ADP-ribosyltransferase activity (GO:0003950)|zinc ion binding (GO:0008270)	p.T905S(3)		NS(1)|endometrium(10)|kidney(6)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	49				COAD - Colon adenocarcinoma(149;0.0467)		GTGGGCGTTTACTCCCCTCCA	0.478																																						ENST00000310430.6																			3	Substitution - Missense(3)	p.T905S(3)	prostate(3)	NS(1)|endometrium(10)|kidney(6)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	49						c.(2713-2715)Act>Tct		tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase							95	94	95					8																	9605603		2203	4300	6503	SO:0001583	missense	8658				mitotic spindle organization|mRNA transport|negative regulation of DNA binding|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of telomere maintenance via telomerase|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein poly-ADP-ribosylation|protein polyubiquitination|protein transport|spindle assembly|transmembrane transport|Wnt receptor signaling pathway	chromosome, centromeric region|Golgi membrane|microsome|nuclear chromosome, telomeric region|nuclear membrane|nuclear pore|pericentriolar material	NAD+ ADP-ribosyltransferase activity|protein binding|zinc ion binding	g.chr8:9605603A>T	AF082556	CCDS5974.1	8p23.1	2013-01-10			ENSG00000173273	ENSG00000173273		"Poly (ADP-ribose) polymerases", "Sterile alpha motif (SAM) domain containing", "Ankyrin repeat domain containing"	11941	protein-coding gene	gene with protein product		603303				9822378, 10198177	Standard	XM_006716263		Approved	TIN1, TINF1, TNKS1, PARP-5a, PARP5A, pART5	uc003wss.3	O95271	OTTHUMG00000090481	ENST00000310430.6:c.2713A>T	8.37:g.9605603A>T	ENSP00000311579:p.Thr905Ser					TNKS_ENST00000518281.1_Missense_Mutation_p.T668S	p.T905S	NM_003747.2	NP_003738.2	O95271	TNKS1_HUMAN		COAD - Colon adenocarcinoma(149;0.0467)	18	2739	+			905					O95272|Q4G0F2	Missense_Mutation	SNP	ENST00000310430.6	37	c.2713A>T	CCDS5974.1	.	.	.	.	.	.	.	.	.	.	A	32	5.160080	0.94727	.	.	ENSG00000173273	ENST00000310430;ENST00000518281	T;T	0.79247	-1.25;1.75	5.88	5.88	0.94601	Ankyrin repeat-containing domain (3);	0.000000	0.85682	D	0.000000	D	0.85695	0.5756	L	0.53729	1.69	0.80722	D	1	D	0.89917	1.0	D	0.77004	0.989	D	0.86683	0.1918	10	0.66056	D	0.02	.	16.2965	0.82776	1.0:0.0:0.0:0.0	.	905	O95271	TNKS1_HUMAN	S	905;668	ENSP00000311579:T905S;ENSP00000429890:T668S	ENSP00000311579:T905S	T	+	1	0	TNKS	9643013	1.000000	0.71417	1.000000	0.80357	0.911000	0.54048	9.109000	0.94291	2.243000	0.73865	0.528000	0.53228	ACT		0.478	TNKS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206935.1	NM_003747		63	36	0	0	0	0.870114	0	63	36					T	9605603	A	T	9605603	3	4	71	1	0	0	0	0	1	0	0	0	16316	391	14	5	2783	5	TNKS	8	9605603	Missense_Mutation	SNP	A	TCGA-EJ-5525-01A-01D-1576-08		9605603	136758419	28	3692											
PRSS55	203074	broad.mit.edu	37	chr8	10388864	10388864	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aactagcccatccatggaaaTaaaggaggtcgccagcatca	15	6	9	11	1	1	0	1	0	0	0	3	2	2	2	3	3	3	1	3	3	5	2	rs374120510		TCGA-EJ-5525-01A-01D-1576-08	TCGA-EJ-5525-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3953b74a-6ac2-443c-9c61-be6894c76d92	800eb17e-206d-461a-8dad-15d3a09dfb9a	g.chr8:10388864T>C	ENST00000328655.3	+	3	447	c.407T>C	c.(406-408)aTa>aCa	p.I136T	PRSS51_ENST00000523024.1_RNA|PRSS55_ENST00000522210.1_Missense_Mutation_p.I136T	NM_198464.3	NP_940866.2	Q6UWB4	PRS55_HUMAN	protease, serine, 55	136	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	serine-type endopeptidase activity (GO:0004252)	p.I136T(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|skin(1)	31						TCCATGGAAATAAAGGAGGTC	0.517																																						ENST00000328655.3																			1	Substitution - Missense(1)	p.I136T(1)	prostate(1)	endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|skin(1)	31						c.(406-408)aTa>aCa		protease, serine, 55		T	THR/ILE,THR/ILE	0,4406		0,0,2203	165	154	158		407,407	0.3	0	8		158	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	PRSS55	NM_001197020.1,NM_198464.3	89,89	0,1,6502	CC,CT,TT		0.0116,0.0,0.0077	benign,benign	136/277,136/353	10388864	1,13005	2203	4300	6503	SO:0001583	missense	203074				proteolysis	integral to membrane	serine-type endopeptidase activity	g.chr8:10388864T>C	AY358867	CCDS5976.1, CCDS56523.1	8p23.1	2014-01-21			ENSG00000184647	ENSG00000184647		"Serine peptidases / Serine peptidases"	30824	protein-coding gene	gene with protein product		615144				12975309, 18844450	Standard	NM_198464		Approved	T-SP1, UNQ9391, CT153	uc003wta.3	Q6UWB4	OTTHUMG00000129345	ENST00000328655.3:c.407T>C	8.37:g.10388864T>C	ENSP00000333003:p.Ile136Thr					PRSS55_ENST00000522210.1_Missense_Mutation_p.I136T|PRSS51_ENST00000523024.1_RNA	p.I136T	NM_198464.3	NP_940866.2	Q6UWB4	PRS55_HUMAN			3	447	+			136			Peptidase S1.		E5RJX5	Missense_Mutation	SNP	ENST00000328655.3	37	c.407T>C	CCDS5976.1	.	.	.	.	.	.	.	.	.	.	T	8.645	0.896796	0.17686	0.0	1.16E-4	ENSG00000184647	ENST00000328655;ENST00000522210	D;D	0.88277	-2.36;-2.36	4.48	0.286	0.15710	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	2.174910	0.02476	N	0.087986	T	0.76385	0.3980	N	0.10809	0.05	0.09310	N	1	P	0.48589	0.912	P	0.44394	0.448	T	0.70400	-0.4882	10	0.09084	T	0.74	.	1.1043	0.01690	0.188:0.1065:0.1945:0.511	.	136	Q6UWB4	PRS55_HUMAN	T	136	ENSP00000333003:I136T;ENSP00000430459:I136T	ENSP00000333003:I136T	I	+	2	0	PRSS55	10426274	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	0.001000	0.13038	0.275000	0.22094	-0.256000	0.11100	ATA		0.517	PRSS55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251493.3	NM_198464		169	63	0	0	0	0.870114	0	169	63					C	10388864	T	C	10388864	3	2	71	1	0	0	0	0	1	0	0	0	12634	1406	49	4	417	4	PRSS55	8	10388864	Missense_Mutation	SNP	T	TCGA-EJ-5525-01A-01D-1576-08	783261	10388864	135975158	29	3693											
RP1L1	94137	broad.mit.edu	37	chr8	10464916	10464916	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gggcctccccttcagcctccGgggtctctacgccttctggc	2	10	11	18	2	3	0	1	0	2	0	6	0	5	0	6	4	2	0	6	4	1	3			TCGA-EJ-5525-01A-01D-1576-08	TCGA-EJ-5525-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3953b74a-6ac2-443c-9c61-be6894c76d92	800eb17e-206d-461a-8dad-15d3a09dfb9a	g.chr8:10464916G>A	ENST00000382483.3	-	4	6915	c.6692C>T	c.(6691-6693)cCg>cTg	p.P2231L		NM_178857.5	NP_849188.4	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	2311	25 X 16 AA approximate tandem repeats of [ED]-[AT]-[PQ]-[ED]-[AVT]-E-[GKE]-[ED]- [AMT]-Q-[EPK]-[EAT]-[TSELP]-[EG]- [EGSQDI]-[AVIE].				cell projection organization (GO:0030030)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|visual perception (GO:0007601)	axoneme (GO:0005930)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|photoreceptor connecting cilium (GO:0032391)|photoreceptor outer segment (GO:0001750)		p.P2231L(1)		breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		TTCAGCCTCCGGGGTCTCTAC	0.612																																						ENST00000382483.3																			1	Substitution - Missense(1)	p.P2231L(1)	prostate(1)	breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148						c.(6691-6693)cCg>cTg		retinitis pigmentosa 1-like 1							100	107	105					8																	10464916		1907	4115	6022	SO:0001583	missense	94137				intracellular signal transduction			g.chr8:10464916G>A	AY168346	CCDS43708.1	8p23.1	2011-12-06			ENSG00000183638	ENSG00000183638			15946	protein-coding gene	gene with protein product		608581				12634863	Standard	NM_178857		Approved	DCDC4B	uc003wtc.3	Q8IWN7	OTTHUMG00000163806	ENST00000382483.3:c.6692C>T	8.37:g.10464916G>A	ENSP00000371923:p.Pro2231Leu						p.P2231L	NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN		COAD - Colon adenocarcinoma(149;0.0811)	4	6915	-			2231					Q86SQ1|Q8IWN8|Q8IWN9|Q8IWP0|Q8IWP1|Q8IWP2	Missense_Mutation	SNP	ENST00000382483.3	37	c.6692C>T	CCDS43708.1	.	.	.	.	.	.	.	.	.	.	G	3.027	-0.200454	0.06219	.	.	ENSG00000183638	ENST00000382483	T	0.13657	2.57	2.86	-5.72	0.02406	.	.	.	.	.	T	0.07324	0.0185	L	0.27053	0.805	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.23190	-1.0195	9	0.46703	T	0.11	.	3.4719	0.07570	0.1019:0.1844:0.5541:0.1597	.	2231	A6NKC6	.	L	2231	ENSP00000371923:P2231L	ENSP00000371923:P2231L	P	-	2	0	RP1L1	10502326	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-5.872000	0.00093	-3.243000	0.00206	-1.626000	0.00786	CCG		0.612	RP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375673.1			128	52	0	0	0	0.870114	0	128	52					A	10464916	G	A	10464916	3	1	71	1	0	0	0	0	1	0	0	0	13533	1116	39	2	514	2	RP1L1	8	10464916	Missense_Mutation	SNP	G	TCGA-EJ-5525-01A-01D-1576-08	76052	10464916	135899106	30	3694											
NEFM	4741	broad.mit.edu	37	chr8	24775968	24775968	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatcaccagtgaggggggagAtggtgctaccaaatacatca	14	7	12	8	0	2	2	2	1	0	1	2	3	2	2	2	4	3	1	2	4	4	2			TCGA-EJ-5525-01A-01D-1576-08	TCGA-EJ-5525-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3953b74a-6ac2-443c-9c61-be6894c76d92	800eb17e-206d-461a-8dad-15d3a09dfb9a	g.chr8:24775968A>T	ENST00000221166.5	+	3	3382	c.2600A>T	c.(2599-2601)gAt>gTt	p.D867V	NEFM_ENST00000518131.1_Missense_Mutation_p.D649V|NEFM_ENST00000521540.1_3'UTR|NEFM_ENST00000433454.2_Missense_Mutation_p.D491V|NEFM_ENST00000437366.2_Missense_Mutation_p.D828V			P07197	NFM_HUMAN	neurofilament, medium polypeptide	867	Tail.				axon cargo transport (GO:0008088)|microtubule cytoskeleton organization (GO:0000226)|neurofilament bundle assembly (GO:0033693)|regulation of axon diameter (GO:0031133)	axon (GO:0030424)|neurofibrillary tangle (GO:0097418)|neurofilament (GO:0005883)|neuromuscular junction (GO:0031594)	microtubule binding (GO:0008017)|structural constituent of cytoskeleton (GO:0005200)	p.D867V(1)		breast(3)|endometrium(7)|kidney(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|urinary_tract(1)	36		Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)		GAGGGGGGAGATGGTGCTACC	0.438																																						ENST00000221166.5																			1	Substitution - Missense(1)	p.D867V(1)	prostate(1)	breast(3)|endometrium(7)|kidney(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|urinary_tract(1)	36						c.(2599-2601)gAt>gTt		neurofilament, medium polypeptide							69	72	71					8																	24775968		2203	4300	6503	SO:0001583	missense	4741					neurofilament	protein binding|structural constituent of cytoskeleton	g.chr8:24775968A>T	BC002421	CCDS6046.1, CCDS47831.1	8p21	2013-01-16	2008-09-19	2006-11-20	ENSG00000104722	ENSG00000104722		"Intermediate filaments type IV"	7734	protein-coding gene	gene with protein product		162250	"neurofilament, medium polypeptide 150kDa"	NEF3		1348579	Standard	NM_001105541		Approved	NFM, NF-M	uc003xed.4	P07197	OTTHUMG00000131990	ENST00000221166.5:c.2600A>T	8.37:g.24775968A>T	ENSP00000221166:p.Asp867Val					NEFM_ENST00000518131.1_Missense_Mutation_p.D649V|NEFM_ENST00000437366.2_Missense_Mutation_p.D828V|NEFM_ENST00000521540.1_3'UTR|NEFM_ENST00000433454.2_Missense_Mutation_p.D491V	p.D867V			P07197	NFM_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)	3	3382	+		Prostate(55;0.157)	867			Tail.		B4DGN2|E9PBF7|Q4QRK6	Missense_Mutation	SNP	ENST00000221166.5	37	c.2600A>T	CCDS6046.1	.	.	.	.	.	.	.	.	.	.	A	16.92	3.255312	0.59321	.	.	ENSG00000104722	ENST00000221166;ENST00000518131;ENST00000437366;ENST00000433454	D;D;D;D	0.98732	-3.91;-3.46;-3.69;-5.1	4.63	4.63	0.57726	.	0.000000	0.46442	D	0.000298	D	0.98504	0.9501	M	0.64997	1.995	0.80722	D	1	D;D	0.71674	0.969;0.998	P;P	0.59115	0.585;0.852	D	0.99282	1.0896	10	0.87932	D	0	.	14.0407	0.64674	1.0:0.0:0.0:0.0	.	649;867	E7EMV2;P07197	.;NFM_HUMAN	V	867;649;828;491	ENSP00000221166:D867V;ENSP00000427872:D649V;ENSP00000410137:D828V;ENSP00000412295:D491V	ENSP00000221166:D867V	D	+	2	0	NEFM	24831873	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	6.977000	0.76141	1.717000	0.51406	0.383000	0.25322	GAT		0.438	NEFM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254954.2	NM_005382		55	14	0	0	0	0.870114	0	55	14					T	24775968	A	T	24775968	3	4	71	1	0	0	0	0	1	0	0	0	10316	333	12	5	2610	5	NEFM	8	24775968	Missense_Mutation	SNP	A	TCGA-EJ-5525-01A-01D-1576-08	14311052	24775968	121588054	31	3695											
CYP7B1	9420	broad.mit.edu	37	chr8	65537016	65537016	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tttgaagtgttttcatgaacCttaaggggtcttttcgtaag	9	17	10	5	1	2	2	1	2	1	0	3	2	2	2	1	2	1	2	1	2	4	7			TCGA-EJ-5525-01A-01D-1576-08	TCGA-EJ-5525-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3953b74a-6ac2-443c-9c61-be6894c76d92	800eb17e-206d-461a-8dad-15d3a09dfb9a	g.chr8:65537016C>A	ENST00000310193.3	-	2	376	c.203G>T	c.(202-204)aGg>aTg	p.R68M		NM_004820.3	NP_004811.1	O75881	CP7B1_HUMAN	cytochrome P450, family 7, subfamily B, polypeptide 1	68					bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cell death (GO:0008219)|cholesterol metabolic process (GO:0008203)|negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|positive regulation of epithelial cell proliferation (GO:0050679)|prostate gland epithelium morphogenesis (GO:0060740)|small molecule metabolic process (GO:0044281)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	25-hydroxycholesterol 7alpha-hydroxylase activity (GO:0033783)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxysterol 7-alpha-hydroxylase activity (GO:0008396)	p.R68M(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(11)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28		all_cancers(86;0.217)|Lung NSC(129;0.0521)|all_lung(136;0.0906)|all_epithelial(80;0.215)				TTTCATGAACCTTAAGGGGTC	0.383																																						ENST00000310193.3																			1	Substitution - Missense(1)	p.R68M(1)	prostate(1)	endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(11)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28						c.(202-204)aGg>aTg		cytochrome P450, family 7, subfamily B, polypeptide 1							144	140	141					8																	65537016		2203	4300	6503	SO:0001583	missense	9420				bile acid biosynthetic process|cell death|cholesterol metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	25-hydroxycholesterol 7alpha-hydroxylase activity|electron carrier activity|heme binding|oxysterol 7-alpha-hydroxylase activity	g.chr8:65537016C>A	AF029403	CCDS6180.1	8q21.3	2008-07-04	2003-01-14		ENSG00000172817	ENSG00000172817		"Cytochrome P450s"	2652	protein-coding gene	gene with protein product		603711	"cytochrome P450, subfamily VIIB (oxysterol 7 alpha-hydroxylase), polypeptide 1", "spastic paraplegia 5A (autosomal recessive)"	SPG5A		9802883, 18252231	Standard	NM_004820		Approved		uc003xvj.2	O75881	OTTHUMG00000164387	ENST00000310193.3:c.203G>T	8.37:g.65537016C>A	ENSP00000310721:p.Arg68Met						p.R68M	NM_004820.3	NP_004811.1	O75881	CP7B1_HUMAN			2	376	-		all_cancers(86;0.217)|Lung NSC(129;0.0521)|all_lung(136;0.0906)|all_epithelial(80;0.215)	68					B2RN07|Q9UNF5	Missense_Mutation	SNP	ENST00000310193.3	37	c.203G>T	CCDS6180.1	.	.	.	.	.	.	.	.	.	.	C	11.84	1.758294	0.31137	.	.	ENSG00000172817	ENST00000310193	T	0.68903	-0.36	5.52	-0.308	0.12773	.	1.181470	0.05699	N	0.593732	T	0.50069	0.1594	N	0.19112	0.55	0.09310	N	1	P	0.51351	0.944	B	0.42245	0.381	T	0.46456	-0.9190	10	0.59425	D	0.04	-22.326	5.4839	0.16739	0.0:0.3036:0.3124:0.3841	.	68	O75881	CP7B1_HUMAN	M	68	ENSP00000310721:R68M	ENSP00000310721:R68M	R	-	2	0	CYP7B1	65699570	0.003000	0.15002	0.000000	0.03702	0.003000	0.03518	1.210000	0.32370	0.015000	0.14971	-0.469000	0.05056	AGG		0.383	CYP7B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378550.1			84	383	1	0	4.92795e-40	0.870114	5.62366e-40	84	383					A	65537016	C	A	65537016	3	1	71	1	0	0	0	0	1	0	0	0	4197	681	24	5	1337	5	CYP7B1	8	65537016	Missense_Mutation	SNP	C	TCGA-EJ-5525-01A-01D-1576-08	40761048	65537016	80827006	32	3696											
CCNE2	9134	broad.mit.edu	37	chr8	95895044	95895044	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccacttcaatggaggtaaaaTggcacaaggcagcagcagtc	14	6	11	10	0	1	0	1	0	0	0	2	1	1	1	1	4	2	5	1	4	4	2			TCGA-EJ-5525-01A-01D-1576-08	TCGA-EJ-5525-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3953b74a-6ac2-443c-9c61-be6894c76d92	800eb17e-206d-461a-8dad-15d3a09dfb9a	g.chr8:95895044T>G	ENST00000520509.1	-	10	1160	c.908A>C	c.(907-909)cAt>cCt	p.H303P	CCNE2_ENST00000308108.4_Missense_Mutation_p.H303P|RP11-347C18.5_ENST00000605911.1_RNA|CCNE2_ENST00000396133.3_Missense_Mutation_p.H303P|CCNE2_ENST00000523476.1_5'Flank			O96020	CCNE2_HUMAN	cyclin E2	303					cell cycle checkpoint (GO:0000075)|cell division (GO:0051301)|DNA replication initiation (GO:0006270)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	cyclin-dependent protein serine/threonine kinase regulator activity (GO:0016538)	p.H303P(1)		cervix(1)|endometrium(2)|large_intestine(3)|lung(4)|prostate(1)	11	Breast(36;8.75e-07)					GGAGGTAAAATGGCACAAGGC	0.383																																						ENST00000520509.1																			1	Substitution - Missense(1)	p.H303P(1)	prostate(1)	cervix(1)|endometrium(2)|large_intestine(3)|lung(4)|prostate(1)	11						c.(907-909)cAt>cCt		cyclin E2							151	145	147					8																	95895044		2203	4300	6503	SO:0001583	missense	9134				cell cycle checkpoint|cell division|G1/S transition of mitotic cell cycle|regulation of cyclin-dependent protein kinase activity	cytosol|nucleoplasm	protein kinase binding	g.chr8:95895044T>G	AF091433	CCDS6264.1	8q22.1	2005-10-18			ENSG00000175305	ENSG00000175305			1590	protein-coding gene	gene with protein product		603775				9840927, 9840943	Standard	NM_057749		Approved	CYCE2	uc003yhc.3	O96020	OTTHUMG00000164696	ENST00000520509.1:c.908A>C	8.37:g.95895044T>G	ENSP00000429089:p.His303Pro					CCNE2_ENST00000308108.4_Missense_Mutation_p.H303P|CCNE2_ENST00000396133.3_Missense_Mutation_p.H303P	p.H303P			O96020	CCNE2_HUMAN			10	1160	-	Breast(36;8.75e-07)		303					O95439	Missense_Mutation	SNP	ENST00000520509.1	37	c.908A>C	CCDS6264.1	.	.	.	.	.	.	.	.	.	.	T	26.6	4.749002	0.89753	.	.	ENSG00000175305	ENST00000520509;ENST00000308108;ENST00000542725;ENST00000396133	T;T;T	0.36520	1.25;1.25;1.25	6.17	6.17	0.99709	Cyclin, C-terminal (1);Cyclin-like (1);	0.000000	0.85682	D	0.000000	T	0.65585	0.2705	M	0.86953	2.85	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.81914	0.995;0.987	T	0.67146	-0.5744	10	0.36615	T	0.2	.	16.8222	0.85835	0.0:0.0:0.0:1.0	.	303;303	Q8WUE3;O96020	.;CCNE2_HUMAN	P	303;303;195;303	ENSP00000429089:H303P;ENSP00000309181:H303P;ENSP00000379437:H303P	ENSP00000309181:H303P	H	-	2	0	CCNE2	95964220	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.698000	0.84413	2.371000	0.80710	0.533000	0.62120	CAT		0.383	CCNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379808.1	NM_057749, NM_004702		89	371	0	0	0	0.870114	0	89	371					G	95895044	T	G	95895044	3	3	71	1	0	0	0	0	1	0	0	0	2921	1464	51	5	318	5	CCNE2	8	95895044	Missense_Mutation	SNP	T	TCGA-EJ-5525-01A-01D-1576-08	30358028	95895044	50468978	33	3697											
TRPS1	7227	broad.mit.edu	37	chr8	116426955	116426955	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggatgaactatttcctggatCtccagtactttcctgaggac	9	13	9	10	0	1	2	0	2	1	0	4	5	3	5	3	3	2	1	3	3	3	4			TCGA-EJ-5525-01A-01D-1576-08	TCGA-EJ-5525-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3953b74a-6ac2-443c-9c61-be6894c76d92	800eb17e-206d-461a-8dad-15d3a09dfb9a	g.chr8:116426955C>T	ENST00000220888.5	-	6	3301	c.3142G>A	c.(3142-3144)Gat>Aat	p.D1048N	TRPS1_ENST00000520276.1_Missense_Mutation_p.D1052N|TRPS1_ENST00000395715.3_Missense_Mutation_p.D1061N|TRPS1_ENST00000519076.1_Missense_Mutation_p.D802N			Q9UHF7	TRPS1_HUMAN	trichorhinophalangeal syndrome I	1048	Mediates interaction with RNF4. {ECO:0000250}.				chondrocyte differentiation (GO:0002062)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|NLS-bearing protein import into nucleus (GO:0006607)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|regulation of chondrocyte differentiation (GO:0032330)|regulation of histone deacetylation (GO:0031063)|skeletal system development (GO:0001501)|transcription from RNA polymerase II promoter (GO:0006366)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.D1061N(2)|p.D1048N(1)		autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	111	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)			TTTCCTGGATCTCCAGTACTT	0.438									Langer-Giedion syndrome																													ENST00000395715.3																			3	Substitution - Missense(3)	p.D1061N(2)|p.D1048N(1)	prostate(3)	autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	111						c.(3181-3183)Gat>Aat		trichorhinophalangeal syndrome I							165	157	160					8																	116426955		1886	4114	6000	SO:0001583	missense	7227	Langer-Giedion syndrome	Familial Cancer Database	Trichorhinophalangeal syndrome type 2, TRPS II	negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:116426955C>T	AF183810	CCDS6318.2, CCDS64957.1	8q23.3	2014-06-23			ENSG00000104447	ENSG00000104447		"GATA zinc finger domain containing", "Zinc fingers, C2H2-type"	12340	protein-coding gene	gene with protein product		604386				8530105, 10615131, 10647898	Standard	NM_001282903		Approved	LGCR	uc003yny.3	Q9UHF7	OTTHUMG00000142829	ENST00000220888.5:c.3142G>A	8.37:g.116426955C>T	ENSP00000220888:p.Asp1048Asn					TRPS1_ENST00000220888.5_Missense_Mutation_p.D1048N|TRPS1_ENST00000519076.1_Missense_Mutation_p.D802N|TRPS1_ENST00000520276.1_Missense_Mutation_p.D1052N	p.D1061N	NM_014112.2	NP_054831.2	Q9UHF7	TRPS1_HUMAN	Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)		7	3758	-	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		1048			Mediates interaction with RNF4 (By similarity).		B4E1Z5|Q08AU2|Q9NWE1|Q9UHH6	Missense_Mutation	SNP	ENST00000220888.5	37	c.3181G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.97|16.97	3.267746|3.267746	0.59540|0.59540	.|.	.|.	ENSG00000104447|ENSG00000104447	ENST00000395715;ENST00000220888;ENST00000519076;ENST00000520276|ENST00000518018	D;D;D;D|.	0.98362|.	-4.89;-4.86;-4.84;-4.87|.	5.72|5.72	5.72|5.72	0.89469|0.89469	.|.	0.057572|.	0.64402|.	D|.	0.000001|.	T|T	0.48021|0.48021	0.1477|0.1477	N|N	0.08118|0.08118	0|0	0.80722|0.80722	D|D	1|1	P;P;P|.	0.46142|.	0.873;0.799;0.873|.	P;B;P|.	0.44811|.	0.461;0.272;0.461|.	T|T	0.43163|0.43163	-0.9408|-0.9408	10|5	0.72032|.	D|.	0.01|.	.|.	19.865|19.865	0.96801|0.96801	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	1052;1048;1061|.	Q9UHF7-3;Q9UHF7;Q9UHF7-2|.	.;TRPS1_HUMAN;.|.	N|K	1061;1048;802;1052|172	ENSP00000379065:D1061N;ENSP00000220888:D1048N;ENSP00000428910:D802N;ENSP00000428680:D1052N|.	ENSP00000220888:D1048N|.	D|R	-|-	1|2	0|0	TRPS1|TRPS1	116496131|116496131	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	3.241000|3.241000	0.51376|0.51376	2.685000|2.685000	0.91497|0.91497	0.655000|0.655000	0.94253|0.94253	GAT|AGA		0.438	TRPS1-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000286436.3	NM_014112		8	519	0	0	0	0.307466	0	8	519					T	116426955	C	T	116426955	3	4	71	1	0	0	0	0	1	0	0	0	16590	913	32	3	707	3	TRPS1	8	116426955	Missense_Mutation	SNP	C	TCGA-EJ-5525-01A-01D-1576-08	20531911	116426955	29937067	34	3698											
KHDRBS3	10656	broad.mit.edu	37	chr8	136554944	136554944	+	Missense_Mutation	SNP	G	G	T																															ccacgtggcaattctctgaaGcgtttacaagaagaaacctt																										TCGA-EJ-5525-01A-01D-1576-08	TCGA-EJ-5525-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3953b74a-6ac2-443c-9c61-be6894c76d92	800eb17e-206d-461a-8dad-15d3a09dfb9a	g.chr8:136554944G>T	ENST00000355849.5	+	3	665	c.255G>T	c.(253-255)aaG>aaT	p.K85N	KHDRBS3_ENST00000520981.1_Intron	NM_006558.1	NP_006549.1	O75525	KHDR3_HUMAN	KH domain containing, RNA binding, signal transduction associated 3	85	KH.				regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.K85N(1)		NS(1)|endometrium(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	26	all_epithelial(106;2.85e-16)|all_neural(2;2.72e-06)|Lung NSC(106;3.95e-06)|all_lung(105;1.11e-05)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.247)			ATTCTCTGAAGCGTTTACAAG	0.368																																						ENST00000355849.5																			1	Substitution - Missense(1)	p.K85N(1)	prostate(1)	NS(1)|endometrium(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	26						c.(253-255)aaG>aaT		KH domain containing, RNA binding, signal transduction associated 3							123	128	127					8																	136554944		2203	4300	6503	SO:0001583	missense	10656				regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	nucleus	SH3 domain binding	g.chr8:136554944G>T	AF069681	CCDS6374.1	8q24.23	2008-05-15			ENSG00000131773	ENSG00000131773			18117	protein-coding gene	gene with protein product		610421				10332027, 10564820	Standard	XR_242372		Approved	T-STAR, Etle, etoile, SALP, SLM2, SLM-2	uc003yuv.3	O75525	OTTHUMG00000164164	ENST00000355849.5:c.255G>T	8.37:g.136554944G>T	ENSP00000348108:p.Lys85Asn					KHDRBS3_ENST00000520981.1_Intron	p.K85N	NM_006558.1	NP_006549.1	O75525	KHDR3_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.247)		3	665	+	all_epithelial(106;2.85e-16)|all_neural(2;2.72e-06)|Lung NSC(106;3.95e-06)|all_lung(105;1.11e-05)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		85			KH.		Q6NUL8|Q9UPA8	Missense_Mutation	SNP	ENST00000355849.5	37	c.255G>T	CCDS6374.1	.	.	.	.	.	.	.	.	.	.	G	18.30	3.592636	0.66219	.	.	ENSG00000131773	ENST00000355849;ENST00000524199;ENST00000517394	T;T;T	0.53423	0.62;0.62;0.62	5.82	4.02	0.46733	K Homology (1);	0.043909	0.85682	D	0.000000	T	0.70885	0.3275	M	0.90595	3.13	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.991;0.996	T	0.73500	-0.3963	10	0.87932	D	0	-19.966	8.9257	0.35639	0.2256:0.0:0.7744:0.0	.	85;85	O75525-2;O75525	.;KHDR3_HUMAN	N	85;57;58	ENSP00000348108:K85N;ENSP00000431022:K57N;ENSP00000430284:K58N	ENSP00000348108:K85N	K	+	3	2	KHDRBS3	136624126	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.744000	0.38268	0.801000	0.34066	0.655000	0.94253	AAG		0.368	KHDRBS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377529.1			87	366	1	0	2.32385e-29	0.870114	2.59096e-29	87	366					T	136554944	G	T	136554944	3	4	71	1	0	0	0	0	1	0	0	0	8148	962	34	5	265	5	KHDRBS3	8	136554944	Missense_Mutation	SNP	G	TCGA-EJ-5525-01A-01D-1576-08	20127989	136554944	9809078	35	3699	22	2									
KHDRBS3	10656	broad.mit.edu	37	chr8	136554945	136554945	+	Missense_Mutation	SNP	C	C	T																															cacgtggcaattctctgaagCgtttacaagaagaaaccttg																										TCGA-EJ-5525-01A-01D-1576-08	TCGA-EJ-5525-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3953b74a-6ac2-443c-9c61-be6894c76d92	800eb17e-206d-461a-8dad-15d3a09dfb9a	g.chr8:136554945C>T	ENST00000355849.5	+	3	666	c.256C>T	c.(256-258)Cgt>Tgt	p.R86C	KHDRBS3_ENST00000520981.1_Intron	NM_006558.1	NP_006549.1	O75525	KHDR3_HUMAN	KH domain containing, RNA binding, signal transduction associated 3	86	KH.				regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.R86C(1)		NS(1)|endometrium(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	26	all_epithelial(106;2.85e-16)|all_neural(2;2.72e-06)|Lung NSC(106;3.95e-06)|all_lung(105;1.11e-05)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.247)			TTCTCTGAAGCGTTTACAAGA	0.368																																						ENST00000355849.5																			1	Substitution - Missense(1)	p.R86C(1)	prostate(1)	NS(1)|endometrium(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	26						c.(256-258)Cgt>Tgt		KH domain containing, RNA binding, signal transduction associated 3							122	128	126					8																	136554945		2203	4300	6503	SO:0001583	missense	10656				regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	nucleus	SH3 domain binding	g.chr8:136554945C>T	AF069681	CCDS6374.1	8q24.23	2008-05-15			ENSG00000131773	ENSG00000131773			18117	protein-coding gene	gene with protein product		610421				10332027, 10564820	Standard	XR_242372		Approved	T-STAR, Etle, etoile, SALP, SLM2, SLM-2	uc003yuv.3	O75525	OTTHUMG00000164164	ENST00000355849.5:c.256C>T	8.37:g.136554945C>T	ENSP00000348108:p.Arg86Cys					KHDRBS3_ENST00000520981.1_Intron	p.R86C	NM_006558.1	NP_006549.1	O75525	KHDR3_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.247)		3	666	+	all_epithelial(106;2.85e-16)|all_neural(2;2.72e-06)|Lung NSC(106;3.95e-06)|all_lung(105;1.11e-05)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		86			KH.		Q6NUL8|Q9UPA8	Missense_Mutation	SNP	ENST00000355849.5	37	c.256C>T	CCDS6374.1	.	.	.	.	.	.	.	.	.	.	C	18.77	3.694485	0.68386	.	.	ENSG00000131773	ENST00000355849;ENST00000524199;ENST00000517394	T;T;T	0.22134	1.97;1.97;1.97	5.82	3.99	0.46301	K Homology (1);	0.044642	0.85682	D	0.000000	T	0.49830	0.1580	M	0.89353	3.025	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.992	T	0.54302	-0.8314	10	0.87932	D	0	-10.2283	10.0747	0.42353	0.279:0.5864:0.1346:0.0	.	86;86	O75525-2;O75525	.;KHDR3_HUMAN	C	86;58;59	ENSP00000348108:R86C;ENSP00000431022:R58C;ENSP00000430284:R59C	ENSP00000348108:R86C	R	+	1	0	KHDRBS3	136624127	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	2.922000	0.48860	0.768000	0.33290	0.655000	0.94253	CGT		0.368	KHDRBS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377529.1			87	369	0	0	0	0.870114	0	87	369					T	136554945	C	T	136554945	3	4	71	1	0	0	0	0	1	0	0	0	8148	768	27	1	266	1	KHDRBS3	8	136554945	Missense_Mutation	SNP	C	TCGA-EJ-5525-01A-01D-1576-08	1	136554945	9809077	36	3700	22	2									
ZNF517	340385	broad.mit.edu	37	chr8	146033227	146033227	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caccctcaacgagcacggccGcatccacagcggggagcggc	9	2	13	17	5	1	0	1	0	0	0	2	2	2	1	3	4	4	2	3	4	1	0			TCGA-EJ-5525-01A-01D-1576-08	TCGA-EJ-5525-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3953b74a-6ac2-443c-9c61-be6894c76d92	800eb17e-206d-461a-8dad-15d3a09dfb9a	g.chr8:146033227G>A	ENST00000531720.1	+	4	971	c.926G>A	c.(925-927)cGc>cAc	p.R309H	ZNF517_ENST00000526178.1_Intron|ZNF517_ENST00000359971.3_Missense_Mutation_p.R309H|ZNF517_ENST00000525105.1_Intron			Q6ZMY9	ZN517_HUMAN	zinc finger protein 517	309					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R309H(1)		breast(1)|endometrium(2)|large_intestine(2)|lung(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	all_cancers(97;1.03e-11)|all_epithelial(106;6.69e-11)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Epithelial(56;5.47e-39)|OV - Ovarian serous cystadenocarcinoma(54;6.38e-39)|all cancers(56;5.47e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055)			GAGCACGGCCGCATCCACAGC	0.682																																						ENST00000359971.3																			1	Substitution - Missense(1)	p.R309H(1)	prostate(1)	breast(1)|endometrium(2)|large_intestine(2)|lung(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						c.(925-927)cGc>cAc		zinc finger protein 517							15	17	16					8																	146033227		2170	4220	6390	SO:0001583	missense	340385				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr8:146033227G>A	AK096527	CCDS6434.1	8q24.3	2013-01-08				ENSG00000197363		"Zinc fingers, C2H2-type", "-"	27984	protein-coding gene	gene with protein product							Standard	NM_213605		Approved		uc003zed.1	Q6ZMY9		ENST00000531720.1:c.926G>A	8.37:g.146033227G>A	ENSP00000436103:p.Arg309His					ZNF517_ENST00000525105.1_Intron|ZNF517_ENST00000526178.1_Intron|ZNF517_ENST00000531720.1_Missense_Mutation_p.R309H	p.R309H	NM_213605.2	NP_998770.2	Q6ZMY9	ZN517_HUMAN	Epithelial(56;5.47e-39)|OV - Ovarian serous cystadenocarcinoma(54;6.38e-39)|all cancers(56;5.47e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055)		5	1033	+	all_cancers(97;1.03e-11)|all_epithelial(106;6.69e-11)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		309						Missense_Mutation	SNP	ENST00000531720.1	37	c.926G>A	CCDS6434.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.32|15.32	2.797693|2.797693	0.50208|0.50208	.|.	.|.	ENSG00000197363|ENSG00000197363	ENST00000529429|ENST00000359971;ENST00000531720	.|T;T	.|0.63417	.|-0.04;-0.04	2.83|2.83	0.892|0.892	0.19230|0.19230	.|Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.|.	.|.	.|.	.|.	T|T	0.56834|0.56834	0.2012|0.2012	M|M	0.87328|0.87328	2.875|2.875	0.09310|0.09310	N|N	1|1	.|P	.|0.41710	.|0.76	.|B	.|0.27715	.|0.082	T|T	0.54043|0.54043	-0.8352|-0.8352	5|9	.|0.87932	.|D	.|0	.|.	6.3615|6.3615	0.21431|0.21431	0.3607:0.0:0.6393:0.0|0.3607:0.0:0.6393:0.0	.|.	.|309	.|Q6ZMY9	.|ZN517_HUMAN	T|H	276|309	.|ENSP00000353058:R309H;ENSP00000436103:R309H	.|ENSP00000353058:R309H	A|R	+|+	1|2	0|0	ZNF517|ZNF517	146004031|146004031	0.000000|0.000000	0.05858|0.05858	0.080000|0.080000	0.20451|0.20451	0.811000|0.811000	0.45836|0.45836	0.496000|0.496000	0.22499|0.22499	0.067000|0.067000	0.16545|0.16545	0.561000|0.561000	0.74099|0.74099	GCA|CGC		0.682	ZNF517-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382642.1	XM_291261		3	34	0	0	0	0.115264	0	3	34					A	146033227	G	A	146033227	3	1	71	1	0	0	0	0	1	0	0	0	17958	1087	38	1	940	1	ZNF517	8	146033227	Missense_Mutation	SNP	G	TCGA-EJ-5525-01A-01D-1576-08	9478282	146033227	330795	37	3701											
TBC1D2	55357	broad.mit.edu	37	chr9	100991289	100991289	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgttgctccaaggctgccActttctcctgggcagttcgg	4	12	11	14	1	1	0	0	0	1	0	4	0	2	0	4	3	2	5	4	3	1	3			TCGA-EJ-5525-01A-01D-1576-08	TCGA-EJ-5525-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3953b74a-6ac2-443c-9c61-be6894c76d92	800eb17e-206d-461a-8dad-15d3a09dfb9a	g.chr9:100991289A>C	ENST00000375064.1	-	5	961	c.923T>G	c.(922-924)gTg>gGg	p.V308G	TBC1D2_ENST00000493589.2_5'UTR|TBC1D2_ENST00000375066.5_Missense_Mutation_p.V308G|TBC1D2_ENST00000342112.5_Missense_Mutation_p.V90G	NM_001267571.1	NP_001254500.1	Q9BYX2	TBD2A_HUMAN	TBC1 domain family, member 2	308	Interaction with RAC1.				positive regulation of Rab GTPase activity (GO:0032851)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)	cadherin binding (GO:0045296)|Rab GTPase activator activity (GO:0005097)	p.V308G(1)		breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;2.55e-37)		CAAGGCTGCCACTTTCTCCTG	0.542																																						ENST00000375066.5																			1	Substitution - Missense(1)	p.V308G(1)	prostate(1)	breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24						c.(922-924)gTg>gGg		TBC1 domain family, member 2							130	113	119					9																	100991289		2203	4300	6503	SO:0001583	missense	55357					cell junction|cytoplasmic membrane-bounded vesicle|nucleus	Rab GTPase activator activity	g.chr9:100991289A>C	AY026527	CCDS35080.1, CCDS59137.1, CCDS75865.1	9q22.32	2011-11-30			ENSG00000095383	ENSG00000095383			18026	protein-coding gene	gene with protein product	"prostate antigen recognized and identified by SEREX"	609871					Standard	NM_018421		Approved	PARIS1, TBC1D2A, Armus	uc011lvb.2	Q9BYX2	OTTHUMG00000020343	ENST00000375064.1:c.923T>G	9.37:g.100991289A>C	ENSP00000364205:p.Val308Gly					TBC1D2_ENST00000342112.5_Missense_Mutation_p.V90G|TBC1D2_ENST00000375064.1_Missense_Mutation_p.V308G|TBC1D2_ENST00000493589.2_5'UTR	p.V308G	NM_018421.3	NP_060891.3	Q9BYX2	TBD2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(323;2.55e-37)	5	1014	-		Myeloproliferative disorder(762;0.0255)	308			Interaction with RAC1.		B3KWD1|B4DQ05|B9A6J7|Q59EU0|Q5TBQ5|Q6IPC7|Q7L1K8|Q8WYT1|Q9H6A2|Q9NSH4	Missense_Mutation	SNP	ENST00000375064.1	37	c.923T>G		.	.	.	.	.	.	.	.	.	.	A	12.18	1.861622	0.32884	.	.	ENSG00000095383	ENST00000375064;ENST00000375066;ENST00000342112	T;T;T	0.14266	2.52;2.92;2.52	5.49	1.72	0.24424	.	0.216928	0.39985	N	0.001210	T	0.16385	0.0394	M	0.66939	2.045	0.27289	N	0.957898	B;B	0.31548	0.22;0.328	B;B	0.36766	0.154;0.232	T	0.13124	-1.0521	10	0.87932	D	0	.	6.9122	0.24340	0.6961:0.0:0.3039:0.0	.	308;308	Q9BYX2;Q9BYX2-2	TBD2A_HUMAN;.	G	308;308;90	ENSP00000364205:V308G;ENSP00000364207:V308G;ENSP00000341567:V90G	ENSP00000341567:V90G	V	-	2	0	TBC1D2	100031110	0.963000	0.33076	0.054000	0.19295	0.821000	0.46438	1.788000	0.38714	0.041000	0.15688	0.533000	0.62120	GTG		0.542	TBC1D2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000053366.1	NM_018421		61	88	0	0	0	0.870114	0	61	88					C	100991289	A	C	100991289	3	2	71	1	0	0	0	0	1	0	0	0	15605	159	6	5	1866	5	TBC1D2	9	100991289	Missense_Mutation	SNP	A	TCGA-EJ-5525-01A-01D-1576-08		100991289	40222142	38	3702											
COL27A1	85301	broad.mit.edu	37	chr9	117068939	117068939	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcccgggtctgcagggaccTcatggactgtgagcagaaga	9	6	15	11	2	2	3	1	1	1	2	2	5	2	5	2	3	2	2	2	3	1	0			TCGA-EJ-5525-01A-01D-1576-08	TCGA-EJ-5525-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3953b74a-6ac2-443c-9c61-be6894c76d92	800eb17e-206d-461a-8dad-15d3a09dfb9a	g.chr9:117068939T>C	ENST00000356083.3	+	58	5469	c.5078T>C	c.(5077-5079)cTc>cCc	p.L1693P		NM_032888.2	NP_116277.2	Q8IZC6	CORA1_HUMAN	collagen, type XXVII, alpha 1	1693	Fibrillar collagen NC1. {ECO:0000255|PROSITE-ProRule:PRU00793}.				extracellular matrix organization (GO:0030198)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|fibrillar collagen trimer (GO:0005583)	extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)	p.L1693P(1)		central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						TGCAGGGACCTCATGGACTGT	0.582											OREG0019417	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000356083.3																			1	Substitution - Missense(1)	p.L1693P(1)	prostate(1)	central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						c.(5077-5079)cTc>cCc		collagen, type XXVII, alpha 1							43	45	44					9																	117068939		2203	4300	6503	SO:0001583	missense	85301				cell adhesion		extracellular matrix structural constituent	g.chr9:117068939T>C	AB058773	CCDS6802.1	9q33.1	2013-01-16			ENSG00000196739	ENSG00000196739		"Collagens"	22986	protein-coding gene	gene with protein product		608461				12766169	Standard	NM_032888		Approved	KIAA1870, MGC11337, FLJ11895	uc011lxl.2	Q8IZC6	OTTHUMG00000020537	ENST00000356083.3:c.5078T>C	9.37:g.117068939T>C	ENSP00000348385:p.Leu1693Pro		OREG0019417	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1478		p.L1693P	NM_032888.2	NP_116277.2	Q8IZC6	CORA1_HUMAN			58	5469	+			1693			Fibrillar collagen NC1.		Q66K43|Q96JF7	Missense_Mutation	SNP	ENST00000356083.3	37	c.5078T>C	CCDS6802.1	.	.	.	.	.	.	.	.	.	.	T	18.41	3.617313	0.66672	.	.	ENSG00000196739	ENST00000356083;ENST00000357257	D	0.82344	-1.6	5.2	5.2	0.72013	Fibrillar collagen, C-terminal (3);	.	.	.	.	D	0.93572	0.7948	H	0.96142	3.775	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.95150	0.8272	9	0.87932	D	0	.	13.0021	0.58681	0.0:0.0:0.0:1.0	.	1693	Q8IZC6	CORA1_HUMAN	P	1693;1700	ENSP00000348385:L1693P	ENSP00000348385:L1693P	L	+	2	0	COL27A1	116108760	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.662000	0.83803	1.939000	0.56221	0.460000	0.39030	CTC		0.582	COL27A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053763.1	NM_032888		31	58	0	0	0	0.740014	0	31	58					C	117068939	T	C	117068939	3	2	71	1	0	0	0	0	1	0	0	0	3685	1551	54	4	5308	4	COL27A1	9	117068939	Missense_Mutation	SNP	T	TCGA-EJ-5525-01A-01D-1576-08	16077650	117068939	24144492	39	3703											
ASB6	140459	broad.mit.edu	37	chr9	132400168	132400168	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accttcacatccacaggccaCggctgaaggtagagccggat	11	6	11	13	2	1	2	1	1	0	1	2	3	2	3	4	4	1	2	4	4	2	2	rs200707909		TCGA-EJ-5525-01A-01D-1576-08	TCGA-EJ-5525-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3953b74a-6ac2-443c-9c61-be6894c76d92	800eb17e-206d-461a-8dad-15d3a09dfb9a	g.chr9:132400168C>T	ENST00000277458.4	-	6	1332	c.1167G>A	c.(1165-1167)ccG>ccA	p.P389P	ASB6_ENST00000450050.2_Silent_p.P310P|RP11-483H20.4_ENST00000455074.1_RNA|ASB6_ENST00000277459.4_3'UTR	NM_017873.3	NP_060343.1	Q9NWX5	ASB6_HUMAN	ankyrin repeat and SOCS box containing 6	389	SOCS box. {ECO:0000255|PROSITE- ProRule:PRU00194}.				intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)		p.P389P(1)		NS(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)	15		Ovarian(14;0.00556)				CCACAGGCCACGGCTGAAGGT	0.597													C|||	1	0.000199681	0	0	5008	,	,		19127	0.001		0	False		,,,				2504	0					ENST00000277458.4																			1	Substitution - coding silent(1)	p.P389P(1)	prostate(1)	NS(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)	15						c.(1165-1167)ccG>ccA		ankyrin repeat and SOCS box containing 6							58	56	57					9																	132400168		2203	4300	6503	SO:0001819	synonymous_variant	140459				intracellular signal transduction	cytoplasm		g.chr9:132400168C>T		CCDS6924.1, CCDS6925.1, CCDS75919.1	9q34.13	2013-01-10	2011-01-25		ENSG00000148331	ENSG00000148331		"Ankyrin repeat domain containing"	17181	protein-coding gene	gene with protein product		615051	"ankyrin repeat and SOCS box-containing 6"				Standard	NM_017873		Approved		uc004byf.2	Q9NWX5	OTTHUMG00000020787	ENST00000277458.4:c.1167G>A	9.37:g.132400168C>T						ASB6_ENST00000450050.2_Silent_p.P310P|ASB6_ENST00000277459.4_3'UTR	p.P389P	NM_017873.3	NP_060343.1	Q9NWX5	ASB6_HUMAN			6	1332	-		Ovarian(14;0.00556)	389			SOCS box.		Q5SZB7|Q9BV15	Silent	SNP	ENST00000277458.4	37	c.1167G>A	CCDS6924.1																																																																																				0.597	ASB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054594.1	NM_017873		48	63	0	0	0	0.870114	0	48	63					T	132400168	C	T	132400168	2	4	71	1	0	0	0	0	0	0	0	1	1027	523	19	1		1	ASB6	9	132400168	Silent	SNP	C	TCGA-EJ-5525-01A-01D-1576-08	15331229	132400168	8813263	40	3704											
ACBD5	91452	broad.mit.edu	37	chr10	27497258	27497258	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagtctcatcagcacgagggCgatctgctcattgaggctgc	8	9	12	12	2	4	1	3	1	2	0	5	3	4	1	0	2	3	3	0	2	0	1			TCGA-EJ-5525-01A-01D-1576-08	TCGA-EJ-5525-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3953b74a-6ac2-443c-9c61-be6894c76d92	800eb17e-206d-461a-8dad-15d3a09dfb9a	g.chr10:27497258C>A	ENST00000375888.1	-	10	1412	c.1348G>T	c.(1348-1350)Gcc>Tcc	p.A450S	ACBD5_ENST00000375897.3_Missense_Mutation_p.A264S|ACBD5_ENST00000375901.1_Missense_Mutation_p.A332S|ACBD5_ENST00000476758.1_5'UTR|ACBD5_ENST00000396271.3_Missense_Mutation_p.A441S|ACBD5_ENST00000375905.4_Missense_Mutation_p.A406S			Q5T8D3	ACBD5_HUMAN	acyl-CoA binding domain containing 5	450					peroxisome degradation (GO:0030242)|transport (GO:0006810)	integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)|peroxisome (GO:0005777)	fatty-acyl-CoA binding (GO:0000062)|lipid binding (GO:0008289)	p.A441S(1)|p.A406S(1)		breast(1)|endometrium(1)|large_intestine(3)|lung(7)|prostate(1)	13						AGCACGAGGGCGATCTGCTCA	0.572																																						ENST00000396271.3																			2	Substitution - Missense(2)	p.A441S(1)|p.A406S(1)	prostate(2)	breast(1)|endometrium(1)|large_intestine(3)|lung(7)|prostate(1)	13						c.(1321-1323)Gcc>Tcc		acyl-CoA binding domain containing 5							125	114	118					10																	27497258		2203	4300	6503	SO:0001583	missense	91452				transport	integral to membrane|peroxisomal membrane	fatty-acyl-CoA binding	g.chr10:27497258C>A	AF505653	CCDS7154.1, CCDS44368.1, CCDS73079.1	10p12.1	2010-04-30	2010-04-30		ENSG00000107897	ENSG00000107897			23338	protein-coding gene	gene with protein product			"acyl-Coenzyme A binding domain containing 5"			12056414	Standard	NR_024150		Approved	DKFZp434A2417, KIAA1996	uc010qdp.2	Q5T8D3	OTTHUMG00000017854	ENST00000375888.1:c.1348G>T	10.37:g.27497258C>A	ENSP00000365049:p.Ala450Ser					ACBD5_ENST00000375897.3_Missense_Mutation_p.A264S|ACBD5_ENST00000476758.1_5'UTR|ACBD5_ENST00000375905.4_Missense_Mutation_p.A406S|ACBD5_ENST00000375901.1_Missense_Mutation_p.A332S|ACBD5_ENST00000375888.1_Missense_Mutation_p.A450S	p.A441S	NM_145698.3	NP_663736.2	Q5T8D3	ACBD5_HUMAN			10	1447	-			450					B3KQ56|D3DRW0|Q5T8D4|Q5T8E1|Q5T8E2|Q86UV1|Q8N6E3|Q9UFB5	Missense_Mutation	SNP	ENST00000375888.1	37	c.1321G>T		.	.	.	.	.	.	.	.	.	.	C	24.0	4.483065	0.84747	.	.	ENSG00000107897	ENST00000375889;ENST00000396271;ENST00000375905;ENST00000375901;ENST00000375897;ENST00000375888	T;T;T;T;T	0.36699	2.24;1.99;1.25;1.24;2.24	5.63	5.63	0.86233	.	0.100620	0.64402	D	0.000002	T	0.64594	0.2612	M	0.79475	2.455	0.49389	D	0.999783	D;D;D;D	0.89917	1.0;0.997;1.0;1.0	D;D;D;D	0.87578	0.989;0.939;0.975;0.998	T	0.66316	-0.5954	10	0.72032	D	0.01	-14.1441	20.0431	0.97598	0.0:1.0:0.0:0.0	.	441;264;439;450	Q5T8D3-3;B7Z2A7;B7Z2R7;Q5T8D3	.;.;.;ACBD5_HUMAN	S	447;441;406;332;264;450	ENSP00000379568:A441S;ENSP00000365070:A406S;ENSP00000365066:A332S;ENSP00000365062:A264S;ENSP00000365049:A450S	ENSP00000365049:A450S	A	-	1	0	ACBD5	27537264	1.000000	0.71417	0.660000	0.29694	0.629000	0.37895	5.200000	0.65158	2.803000	0.96430	0.585000	0.79938	GCC		0.572	ACBD5-005	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000047314.1	NM_145698		129	190	1	0	4.22663e-88	0.870114	5.06152e-88	129	190					A	27497258	C	A	27497258	3	1	71	1	0	0	0	0	1	0	0	0	125	768	27	5	272	5	ACBD5	10	27497258	Missense_Mutation	SNP	C	TCGA-EJ-5525-01A-01D-1576-08		27497258	108037489	41	3705											
CHAT	1103	broad.mit.edu	37	chr10	50854677	50854677	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gctccttcacggcggaggctAcagcaagaacggggccaatc	10	5	13	13	3	1	1	1	0	0	1	3	2	2	2	2	5	3	3	2	5	4	2			TCGA-EJ-5525-01A-01D-1576-08	TCGA-EJ-5525-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3953b74a-6ac2-443c-9c61-be6894c76d92	800eb17e-206d-461a-8dad-15d3a09dfb9a	g.chr10:50854677A>T	ENST00000337653.2	+	8	1391	c.1238A>T	c.(1237-1239)tAc>tTc	p.Y413F	CHAT_ENST00000395562.2_Missense_Mutation_p.Y331F|CHAT_ENST00000455728.2_Missense_Mutation_p.Y295F|CHAT_ENST00000339797.1_Missense_Mutation_p.Y295F|CHAT_ENST00000395559.2_Missense_Mutation_p.Y295F|CHAT_ENST00000351556.3_Missense_Mutation_p.Y295F	NM_001142929.1|NM_020549.4	NP_001136401.1|NP_065574	P28329	CLAT_HUMAN	choline O-acetyltransferase	413					adult walking behavior (GO:0007628)|dendrite development (GO:0016358)|establishment of synaptic specificity at neuromuscular junction (GO:0007529)|glycerophospholipid biosynthetic process (GO:0046474)|muscle organ development (GO:0007517)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter secretion (GO:0007269)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|rhythmic behavior (GO:0007622)|rhythmic excitation (GO:0043179)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	choline O-acetyltransferase activity (GO:0004102)	p.Y413F(1)		central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(11)|lung(34)|prostate(3)|urinary_tract(1)	56		all_neural(218;0.107)		GBM - Glioblastoma multiforme(2;0.000585)	Choline(DB00122)|Nicotine(DB00184)	GGCGGAGGCTACAGCAAGAAC	0.632																																						ENST00000395562.2																			1	Substitution - Missense(1)	p.Y413F(1)	prostate(1)	central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(11)|lung(34)|prostate(3)|urinary_tract(1)	56						c.(991-993)tAc>tTc		choline O-acetyltransferase	Choline(DB00122)						80	69	73					10																	50854677		2203	4300	6503	SO:0001583	missense	1103				neurotransmitter biosynthetic process|neurotransmitter secretion	cytosol|nucleus	choline O-acetyltransferase activity	g.chr10:50854677A>T	AF305907	CCDS7232.1, CCDS7233.1, CCDS44389.1	10q11.2	2010-05-11	2010-05-11		ENSG00000070748	ENSG00000070748	2.3.1.6		1912	protein-coding gene	gene with protein product		118490	"choline acetyltransferase"			1840566	Standard	NM_020984		Approved		uc001jhz.2	P28329	OTTHUMG00000018198	ENST00000337653.2:c.1238A>T	10.37:g.50854677A>T	ENSP00000337103:p.Tyr413Phe					CHAT_ENST00000395559.2_Missense_Mutation_p.Y295F|CHAT_ENST00000455728.2_Missense_Mutation_p.Y295F|CHAT_ENST00000337653.2_Missense_Mutation_p.Y413F|CHAT_ENST00000339797.1_Missense_Mutation_p.Y295F|CHAT_ENST00000351556.3_Missense_Mutation_p.Y295F	p.Y331F	NM_001142933.1|NM_001142934.1	NP_001136405.1|NP_001136406.1	P28329	CLAT_HUMAN		GBM - Glioblastoma multiforme(2;0.000585)	9	1461	+		all_neural(218;0.107)	413					A2BDF4|A2BDF5|Q16488|Q9BQ23|Q9BQ35|Q9BQE1	Missense_Mutation	SNP	ENST00000337653.2	37	c.992A>T	CCDS7232.1	.	.	.	.	.	.	.	.	.	.	A	7.597	0.671903	0.14776	.	.	ENSG00000070748	ENST00000339797;ENST00000351556;ENST00000395559;ENST00000337653;ENST00000395562;ENST00000455728	T;T;T;T;T;T	0.80393	-1.37;-1.37;-1.37;-1.37;-1.37;-1.37	5.46	2.05	0.26809	.	0.573344	0.19883	N	0.103903	T	0.64461	0.2600	L	0.36672	1.1	0.22656	N	0.998889	B;B	0.21225	0.005;0.053	B;B	0.26094	0.004;0.066	T	0.41556	-0.9502	10	0.10636	T	0.68	-7.835	2.6123	0.04894	0.4415:0.0:0.3441:0.2144	.	295;413	F8W8I2;P28329	.;CLAT_HUMAN	F	295;295;295;413;331;295	ENSP00000343486:Y295F;ENSP00000345878:Y295F;ENSP00000378926:Y295F;ENSP00000337103:Y413F;ENSP00000378929:Y331F;ENSP00000390521:Y295F	ENSP00000337103:Y413F	Y	+	2	0	CHAT	50524683	0.911000	0.30947	1.000000	0.80357	0.588000	0.36517	0.780000	0.26760	0.675000	0.31264	-0.177000	0.13119	TAC		0.632	CHAT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047997.1	NM_020549		33	48	0	0	0	0.779181	0	33	48					T	50854677	A	T	50854677	3	4	71	1	0	0	0	0	1	0	0	0	3313	391	14	5	1312	5	CHAT	10	50854677	Missense_Mutation	SNP	A	TCGA-EJ-5525-01A-01D-1576-08	23357419	50854677	84680070	42	3706											
GOLGA7B	401647	broad.mit.edu	37	chr10	99623791	99623791	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctcgagggctgcctggcctgCgccacggcctacttcatctt	4	10	11	16	3	2	0	1	0	1	0	3	1	2	0	4	3	3	1	4	3	1	3	rs138920879	byFrequency	TCGA-EJ-5525-01A-01D-1576-08	TCGA-EJ-5525-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3953b74a-6ac2-443c-9c61-be6894c76d92	800eb17e-206d-461a-8dad-15d3a09dfb9a	g.chr10:99623791C>T	ENST00000370602.1	+	3	308	c.243C>T	c.(241-243)tgC>tgT	p.C81C		NM_001010917.2	NP_001010917.1	Q2TAP0	GOG7B_HUMAN	golgin A7 family, member B	81						Golgi apparatus (GO:0005794)|membrane (GO:0016020)		p.C81C(1)		endometrium(1)|large_intestine(3)|prostate(1)	5						GCCTGGCCTGCGCCACGGCCT	0.617																																						ENST00000370602.1																			1	Substitution - coding silent(1)	p.C81C(1)	prostate(1)	endometrium(1)|large_intestine(3)|prostate(1)	5						c.(241-243)tgC>tgT		golgin A7 family, member B		C		0,4406		0,0,2203	48	51	50		243	-2.8	0.9	10	dbSNP_134	50	6,8594	5.0+/-18.6	0,6,4294	no	coding-synonymous	GOLGA7B	NM_001010917.2		0,6,6497	TT,TC,CC		0.0698,0.0,0.0461		81/168	99623791	6,13000	2203	4300	6503	SO:0001819	synonymous_variant	401647					Golgi membrane		g.chr10:99623791C>T	BC008047	CCDS31265.1	10q24.2	2011-10-25	2010-02-12	2008-10-03	ENSG00000155265	ENSG00000155265			31668	protein-coding gene	gene with protein product		614189	"chromosome 10 open reading frame 133", "chromosome 10 open reading frame 132", "golgi autoantigen, golgin subfamily a, 7B"	C10orf133, C10orf132			Standard	NM_001010917		Approved	bA459F3.4, bA451M19.3	uc001kos.3	Q2TAP0	OTTHUMG00000018869	ENST00000370602.1:c.243C>T	10.37:g.99623791C>T							p.C81C	NM_001010917.2	NP_001010917.1	Q2TAP0	GOG7B_HUMAN			3	308	+			81					Q5T4F5	Silent	SNP	ENST00000370602.1	37	c.243C>T	CCDS31265.1																																																																																				0.617	GOLGA7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049752.1	NM_001010917		26	57	0	0	0	0.819951	0	26	57					T	99623791	C	T	99623791	2	4	71	1	0	0	0	0	0	0	0	1	6562	776	27	1		1	GOLGA7B	10	99623791	Silent	SNP	C	TCGA-EJ-5525-01A-01D-1576-08	48769114	99623791	35910956	43	3707											
GPR123	84435	broad.mit.edu	37	chr10	134942935	134942935	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acgggctgcccaagggtaaaTtgctagaaggcctgccgttt	9	9	13	10	2	0	1	0	0	0	1	0	1	0	1	3	3	3	4	3	3	5	4			TCGA-EJ-5525-01A-01D-1576-08	TCGA-EJ-5525-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3953b74a-6ac2-443c-9c61-be6894c76d92	800eb17e-206d-461a-8dad-15d3a09dfb9a	g.chr10:134942935T>C	ENST00000392607.3	+	7	2039	c.1603T>C	c.(1603-1605)Ttg>Ctg	p.L535L	GPR123_ENST00000607359.1_Silent_p.L1254L|GPR123_ENST00000392606.2_Silent_p.L438L	NM_001083909.1	NP_001077378.1	Q86SQ6	GP123_HUMAN	G protein-coupled receptor 123	535					G-protein coupled receptor signaling pathway (GO:0007186)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.L1254L(1)|p.L535L(1)		endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(3)	14		all_cancers(35;1.8e-10)|all_epithelial(44;8.95e-09)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Colorectal(31;0.0585)|Melanoma(40;0.123)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;9.16e-06)|Epithelial(32;1.21e-05)|all cancers(32;1.63e-05)		CAAGGGTAAATTGCTAGAAGG	0.632																																						ENST00000607359.1																			2	Substitution - coding silent(2)	p.L1254L(1)|p.L535L(1)	prostate(2)	endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(3)	14						c.(3760-3762)Ttg>Ctg		G protein-coupled receptor 123							20	19	20					10																	134942935		2197	4292	6489	SO:0001819	synonymous_variant	84435					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr10:134942935T>C	AB058731	CCDS41580.1	10q26	2014-08-08			ENSG00000197177	ENSG00000197177		"-", "GPCR / Class B : Orphans"	13838	protein-coding gene	gene with protein product		612302				12565841	Standard	XM_005252695		Approved	KIAA1828	uc001llw.3	Q86SQ6	OTTHUMG00000019304	ENST00000392607.3:c.1603T>C	10.37:g.134942935T>C						GPR123_ENST00000392606.2_Silent_p.L438L|GPR123_ENST00000392607.3_Silent_p.L535L	p.L1254L			Q86SQ6	GP123_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;9.16e-06)|Epithelial(32;1.21e-05)|all cancers(32;1.63e-05)	16	3760	+		all_cancers(35;1.8e-10)|all_epithelial(44;8.95e-09)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Colorectal(31;0.0585)|Melanoma(40;0.123)|Glioma(114;0.203)	535					A5HL16|A6NG50|Q5T234|Q86SN7|Q96JJ9	Silent	SNP	ENST00000392607.3	37	c.3760T>C	CCDS41580.1																																																																																				0.632	GPR123-003	NOVEL	basic|appris_candidate|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000051113.2			16	18	0	0	0	0.479597	0	16	18					C	134942935	T	C	134942935	2	2	71	1	0	0	0	0	0	0	0	1	6637	1490	52	4		4	GPR123	10	134942935	Silent	SNP	T	TCGA-EJ-5525-01A-01D-1576-08	35319144	134942935	591812	44	3708											
GTF2H1	2965	broad.mit.edu	37	chr11	18362866	18362866	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acagagaaggaattctggacAcgttttttccagtcccatta	12	12	8	9	1	1	1	0	0	1	1	3	4	3	3	2	2	0	1	2	2	3	5			TCGA-EJ-5525-01A-01D-1576-08	TCGA-EJ-5525-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3953b74a-6ac2-443c-9c61-be6894c76d92	800eb17e-206d-461a-8dad-15d3a09dfb9a	g.chr11:18362866A>G	ENST00000265963.4	+	6	826	c.666A>G	c.(664-666)acA>acG	p.T222T	GTF2H1_ENST00000453096.2_Silent_p.T222T|GTF2H1_ENST00000524753.4_Silent_p.T18T|GTF2H1_ENST00000534641.1_Silent_p.T106T	NM_005316.3	NP_005307.1	P32780	TF2H1_HUMAN	general transcription factor IIH, polypeptide 1, 62kDa	222	BSD 2. {ECO:0000255|PROSITE- ProRule:PRU00036}.				7-methylguanosine mRNA capping (GO:0006370)|ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)|gene expression (GO:0010467)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of viral transcription (GO:0050434)|protein phosphorylation (GO:0006468)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032)	core TFIIH complex (GO:0000439)|holo TFIIH complex (GO:0005675)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)		p.T222T(2)		endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	20						AATTCTGGACACGTTTTTTCC	0.363								Nucleotide excision repair (NER)																														ENST00000265963.4																			2	Substitution - coding silent(2)	p.T222T(2)	prostate(2)	endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	20						c.(664-666)acA>acG	Nucleotide excision repair (NER)	general transcription factor IIH, polypeptide 1, 62kDa							98	94	96					11																	18362866		2199	4293	6492	SO:0001819	synonymous_variant	2965				mRNA capping|nucleotide-excision repair, DNA damage removal|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein phosphorylation|regulation of cyclin-dependent protein kinase activity|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	holo TFIIH complex	protein binding	g.chr11:18362866A>G		CCDS7838.1	11p15.1-p14	2012-11-05	2002-08-29		ENSG00000110768	ENSG00000110768		"General transcription factors", "General transcription factor IIH complex subunits"	4655	protein-coding gene	gene with protein product		189972	"general transcription factor IIH, polypeptide 1 (62kD subunit)"			1529339, 8162052	Standard	NM_005316		Approved	BTF2, P62, TFIIH	uc001moh.2	P32780	OTTHUMG00000167690	ENST00000265963.4:c.666A>G	11.37:g.18362866A>G						GTF2H1_ENST00000453096.2_Silent_p.T222T|GTF2H1_ENST00000524753.4_Silent_p.T18T|GTF2H1_ENST00000534641.1_Silent_p.T106T	p.T222T	NM_005316.3	NP_005307.1	P32780	TF2H1_HUMAN			6	826	+			222			BSD 2.		B3KXE0|D3DQY2|Q6I9Y7|Q9H5K5|Q9NQD9	Silent	SNP	ENST00000265963.4	37	c.666A>G	CCDS7838.1																																																																																				0.363	GTF2H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395627.2	NM_005316		53	99	0	0	0	0.870114	0	53	99					G	18362866	A	G	18362866	2	3	71	1	0	0	0	0	0	0	0	1	6860	146	6	4		4	GTF2H1	11	18362866	Silent	SNP	A	TCGA-EJ-5525-01A-01D-1576-08		18362866	116643650	45	3709											
OR9Q2	219957	broad.mit.edu	37	chr11	57958582	57958582	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtgtttgctcttttcgtcaTgcctgcctgtatcttggtga	3	19	10	9	1	3	1	1	1	2	0	4	1	3	1	2	1	3	3	2	1	1	5			TCGA-EJ-5525-01A-01D-1576-08	TCGA-EJ-5525-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3953b74a-6ac2-443c-9c61-be6894c76d92	800eb17e-206d-461a-8dad-15d3a09dfb9a	g.chr11:57958582T>G	ENST00000311591.3	+	1	677	c.620T>G	c.(619-621)aTg>aGg	p.M207R		NM_001005283.2	NP_001005283.1	Q8NGE9	OR9Q2_HUMAN	olfactory receptor, family 9, subfamily Q, member 2	207						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.M207R(1)		breast(2)|central_nervous_system(2)|endometrium(1)|large_intestine(3)|lung(24)|ovary(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	41		Breast(21;0.0589)				CTTTTCGTCATGCCTGCCTGT	0.488																																						ENST00000311591.3																			1	Substitution - Missense(1)	p.M207R(1)	prostate(1)	breast(2)|central_nervous_system(2)|endometrium(1)|large_intestine(3)|lung(24)|ovary(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	41						c.(619-621)aTg>aGg		olfactory receptor, family 9, subfamily Q, member 2							187	187	187					11																	57958582		2201	4296	6497	SO:0001583	missense	219957				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:57958582T>G	AB065859	CCDS31544.1	11q12.1	2012-08-09		2004-03-10	ENSG00000186513	ENSG00000186513		"GPCR / Class A : Olfactory receptors"	15328	protein-coding gene	gene with protein product				OR9Q2P			Standard	NM_001005283		Approved		uc010rka.2	Q8NGE9	OTTHUMG00000167414	ENST00000311591.3:c.620T>G	11.37:g.57958582T>G	ENSP00000308714:p.Met207Arg						p.M207R	NM_001005283.2	NP_001005283.1	Q8NGE9	OR9Q2_HUMAN			1	677	+		Breast(21;0.0589)	207						Missense_Mutation	SNP	ENST00000311591.3	37	c.620T>G	CCDS31544.1	.	.	.	.	.	.	.	.	.	.	T	11.24	1.580997	0.28180	.	.	ENSG00000186513	ENST00000311591	T	0.37235	1.21	4.96	4.96	0.65561	GPCR, rhodopsin-like superfamily (1);	0.225948	0.31392	N	0.007730	T	0.30885	0.0779	L	0.28400	0.85	0.38351	D	0.944334	P	0.40360	0.714	P	0.45428	0.48	T	0.12091	-1.0561	10	0.23891	T	0.37	-33.0798	10.3242	0.43783	0.0:0.08:0.0:0.92	.	207	Q8NGE9	OR9Q2_HUMAN	R	207	ENSP00000308714:M207R	ENSP00000308714:M207R	M	+	2	0	OR9Q2	57715158	0.001000	0.12720	1.000000	0.80357	0.465000	0.32709	1.150000	0.31639	2.201000	0.70794	0.460000	0.39030	ATG		0.488	OR9Q2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394540.1	NM_001005283		57	95	0	0	0	0.870114	0	57	95					G	57958582	T	G	57958582	3	3	71	1	0	0	0	0	1	0	0	0	11256	1464	51	5	622	5	OR9Q2	11	57958582	Missense_Mutation	SNP	T	TCGA-EJ-5525-01A-01D-1576-08	39595716	57958582	77047934	46	3710											
KLC2	64837	broad.mit.edu	37	chr11	66029325	66029325	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggctgcgtgaggagctggCggggacacagcagaagctgc	8	5	19	9	2	0	2	0	1	0	1	0	4	0	4	0	5	5	4	0	5	1	0	rs373637724		TCGA-EJ-5525-01A-01D-1576-08	TCGA-EJ-5525-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3953b74a-6ac2-443c-9c61-be6894c76d92	800eb17e-206d-461a-8dad-15d3a09dfb9a	g.chr11:66029325C>T	ENST00000417856.1	+	3	584	c.341C>T	c.(340-342)gCg>gTg	p.A114V	RP11-755F10.3_ENST00000533576.1_RNA|KLC2_ENST00000421552.1_Intron|KLC2_ENST00000394067.2_Missense_Mutation_p.A114V|KLC2_ENST00000394066.2_Intron|KLC2_ENST00000394078.1_Missense_Mutation_p.A114V|KLC2_ENST00000394065.2_5'UTR|KLC2_ENST00000316924.5_Missense_Mutation_p.A114V|RP11-867G23.1_ENST00000530805.1_RNA	NM_001134775.1	NP_001128247.1	Q9H0B6	KLC2_HUMAN	kinesin light chain 2	114					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon cargo transport (GO:0008088)|blood coagulation (GO:0007596)|microtubule-based movement (GO:0007018)	ciliary rootlet (GO:0035253)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinesin I complex (GO:0016938)|membrane (GO:0016020)|microtubule (GO:0005874)|neuron projection (GO:0043005)|protein complex (GO:0043234)	kinesin binding (GO:0019894)|microtubule motor activity (GO:0003777)	p.A114V(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	24						GAGGAGCTGGCGGGGACACAG	0.627																																						ENST00000417856.1																			1	Substitution - Missense(1)	p.A114V(1)	prostate(1)	breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	24						c.(340-342)gCg>gTg		kinesin light chain 2		C	,VAL/ALA,VAL/ALA,VAL/ALA	0,4400		0,0,2200	51	51	51		,341,341,341	4.2	0.9	11		51	1,8589	1.2+/-3.3	0,1,4294	no	intron,missense,missense,missense	KLC2	NM_001134774.1,NM_001134775.1,NM_001134776.1,NM_022822.2	,64,64,64	0,1,6494	TT,TC,CC		0.0116,0.0,0.0077	,probably-damaging,probably-damaging,probably-damaging	,114/623,114/623,114/623	66029325	1,12989	2200	4295	6495	SO:0001583	missense	64837				blood coagulation	cytosol|kinesin complex|microtubule	microtubule motor activity|protein binding	g.chr11:66029325C>T	AK022449	CCDS8130.1, CCDS44653.1	11q13.1	2013-01-10			ENSG00000174996	ENSG00000174996		"Tetratricopeptide (TTC) repeat domain containing"	20716	protein-coding gene	gene with protein product		611729				9624122	Standard	NM_022822		Approved	FLJ12387	uc001ohb.2	Q9H0B6	OTTHUMG00000133757	ENST00000417856.1:c.341C>T	11.37:g.66029325C>T	ENSP00000399403:p.Ala114Val					KLC2_ENST00000394066.2_Intron|KLC2_ENST00000394067.2_Missense_Mutation_p.A114V|KLC2_ENST00000394065.2_5'UTR|KLC2_ENST00000394078.1_Missense_Mutation_p.A114V|KLC2_ENST00000316924.5_Missense_Mutation_p.A114V|KLC2_ENST00000421552.1_Intron	p.A114V	NM_001134775.1	NP_001128247.1	Q9H0B6	KLC2_HUMAN			3	584	+			114					A8MXL7|B2RDY4|Q9H9C8|Q9HA20	Missense_Mutation	SNP	ENST00000417856.1	37	c.341C>T	CCDS8130.1	.	.	.	.	.	.	.	.	.	.	C	29.8	5.039908	0.93630	0.0	1.16E-4	ENSG00000174996	ENST00000417856;ENST00000526758;ENST00000440228;ENST00000394067;ENST00000316924;ENST00000394078;ENST00000475757	T;T;D;T;T;T;D	0.83591	0.75;0.75;-1.74;0.75;0.75;0.75;-1.74	4.15	4.15	0.48705	Rabaptin, GTPase-Rab5 binding (1);	0.000000	0.64402	D	0.000001	D	0.91459	0.7304	M	0.85777	2.775	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.97110	1.0;0.946	D	0.92980	0.6405	10	0.72032	D	0.01	-14.3639	15.3609	0.74472	0.0:1.0:0.0:0.0	.	114;114	A8MX29;Q9H0B6	.;KLC2_HUMAN	V	114	ENSP00000399403:A114V;ENSP00000437026:A114V;ENSP00000396952:A114V;ENSP00000377631:A114V;ENSP00000314837:A114V;ENSP00000377641:A114V;ENSP00000431253:A114V	ENSP00000314837:A114V	A	+	2	0	KLC2	65785901	1.000000	0.71417	0.916000	0.36221	0.827000	0.46813	7.526000	0.81920	2.140000	0.66376	0.561000	0.74099	GCG		0.627	KLC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258200.1	NM_022822		3	49	0	0	0	0.115264	0	3	49					T	66029325	C	T	66029325	3	4	71	1	0	0	0	0	1	0	0	0	8334	768	27	1	347	1	KLC2	11	66029325	Missense_Mutation	SNP	C	TCGA-EJ-5525-01A-01D-1576-08	8070743	66029325	68977191	47	3711											
FGFR1OP2	26127	broad.mit.edu	37	chr12	27109591	27109591	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agagttgcaacaagaaaacaAaggtaagatacgttactttt	18	10	8	5	1	0	3	0	0	0	3	0	3	0	3	0	1	5	4	0	1	8	6			TCGA-EJ-5525-01A-01D-1576-08	TCGA-EJ-5525-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3953b74a-6ac2-443c-9c61-be6894c76d92	800eb17e-206d-461a-8dad-15d3a09dfb9a	g.chr12:27109591A>G	ENST00000229395.3	+	3	593	c.251A>G	c.(250-252)aAa>aGa	p.K84R	FGFR1OP2_ENST00000327214.5_Missense_Mutation_p.K84R|FGFR1OP2_ENST00000546072.1_Missense_Mutation_p.K84R	NM_015633.2	NP_056448.1	Q9NVK5	FGOP2_HUMAN	FGFR1 oncogene partner 2	84					wound healing (GO:0042060)	cytosol (GO:0005829)		p.K84R(1)		cervix(1)|large_intestine(4)|lung(1)|prostate(2)	8	Colorectal(261;0.0847)					CAAGAAAACAAAGGTAAGATA	0.388																																						ENST00000229395.3																			1	Substitution - Missense(1)	p.K84R(1)	prostate(1)	cervix(1)|large_intestine(4)|lung(1)|prostate(2)	8						c.(250-252)aAa>aGa		FGFR1 oncogene partner 2							87	79	82					12																	27109591		2203	4300	6503	SO:0001583	missense	26127					cytoplasm		g.chr12:27109591A>G	AF161472	CCDS8709.1, CCDS53766.1, CCDS53767.1	12p12.1	2014-01-28			ENSG00000111790	ENSG00000111790			23098	protein-coding gene	gene with protein product		608858				15034873	Standard	NM_015633		Approved	DKFZp564O1863	uc001rhm.3	Q9NVK5		ENST00000229395.3:c.251A>G	12.37:g.27109591A>G	ENSP00000229395:p.Lys84Arg					FGFR1OP2_ENST00000327214.5_Missense_Mutation_p.K84R|FGFR1OP2_ENST00000546072.1_Missense_Mutation_p.K84R	p.K84R	NM_015633.2	NP_056448.1	Q9NVK5	FGOP2_HUMAN			3	593	+	Colorectal(261;0.0847)		84					Q6R955|Q8N5L7|Q9P034|Q9UFK8	Missense_Mutation	SNP	ENST00000229395.3	37	c.251A>G	CCDS8709.1	.	.	.	.	.	.	.	.	.	.	A	11.71	1.718837	0.30503	.	.	ENSG00000111790	ENST00000229395;ENST00000546072;ENST00000327214	.	.	.	4.47	4.47	0.54385	.	0.000000	0.85682	D	0.000000	T	0.43188	0.1236	N	0.26042	0.785	0.58432	D	0.999996	B;B;B	0.19073	0.033;0.0;0.001	B;B;B	0.17433	0.018;0.011;0.003	T	0.29181	-1.0020	9	0.16420	T	0.52	-12.5033	14.4637	0.67470	1.0:0.0:0.0:0.0	.	84;84;84	Q9NVK5-2;Q9NVK5;Q9NVK5-3	.;FGOP2_HUMAN;.	R	84	.	ENSP00000229395:K84R	K	+	2	0	FGFR1OP2	27000858	1.000000	0.71417	1.000000	0.80357	0.842000	0.47809	8.556000	0.90697	1.961000	0.56991	0.482000	0.46254	AAA		0.388	FGFR1OP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402961.1	NM_015633		35	67	0	0	0	0.804634	0	35	67					G	27109591	A	G	27109591	3	3	71	1	0	0	0	0	1	0	0	0	5865	14	1	4	257	4	FGFR1OP2	12	27109591	Missense_Mutation	SNP	A	TCGA-EJ-5525-01A-01D-1576-08		27109591	106742304	48	3712											
ACVRL1	94	broad.mit.edu	37	chr12	52310003	52310003	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gctgtgggagattgcccgccGgaccatcgtgaatggtgagg	7	8	17	9	3	0	3	0	2	0	1	1	5	0	4	3	4	1	1	3	4	1	1	rs121909284		TCGA-EJ-5525-01A-01D-1576-08	TCGA-EJ-5525-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3953b74a-6ac2-443c-9c61-be6894c76d92	800eb17e-206d-461a-8dad-15d3a09dfb9a	g.chr12:52310003G>A	ENST00000388922.4	+	8	1515	c.1232G>A	c.(1231-1233)cGg>cAg	p.R411Q	ACVRL1_ENST00000550683.1_Missense_Mutation_p.R425Q|ACVRL1_ENST00000419526.2_Missense_Mutation_p.R237Q	NM_000020.2	NP_000011.2	P37023	ACVL1_HUMAN	activin A receptor type II-like 1	411	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		R -> P (in HHT2). {ECO:0000269|PubMed:15024723}.|R -> Q (in HHT2; retained in the endoplasmic reticulum; dbSNP:rs28936398). {ECO:0000269|PubMed:14684682, ECO:0000269|PubMed:15024723, ECO:0000269|PubMed:8640225}.|R -> W (in HHT2). {ECO:0000269|PubMed:11484689, ECO:0000269|PubMed:15024723, ECO:0000269|PubMed:15712270}.		activin receptor signaling pathway (GO:0032924)|angiogenesis (GO:0001525)|artery development (GO:0060840)|blood circulation (GO:0008015)|blood vessel endothelial cell proliferation involved in sprouting angiogenesis (GO:0002043)|blood vessel maturation (GO:0001955)|blood vessel remodeling (GO:0001974)|BMP signaling pathway (GO:0030509)|cellular response to BMP stimulus (GO:0071773)|cellular response to transforming growth factor beta stimulus (GO:0071560)|endothelial tube morphogenesis (GO:0061154)|in utero embryonic development (GO:0001701)|lymphangiogenesis (GO:0001946)|lymphatic endothelial cell differentiation (GO:0060836)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA biosynthetic process (GO:2000279)|negative regulation of endothelial cell differentiation (GO:0045602)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of focal adhesion assembly (GO:0051895)|positive regulation of angiogenesis (GO:0045766)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of blood pressure (GO:0008217)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of DNA replication (GO:0006275)|regulation of endothelial cell proliferation (GO:0001936)|regulation of transcription, DNA-templated (GO:0006355)|retina vasculature development in camera-type eye (GO:0061298)|signal transduction (GO:0007165)|transforming growth factor beta receptor signaling pathway (GO:0007179)|venous blood vessel development (GO:0060841)|wound healing, spreading of epidermal cells (GO:0035313)	cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)	activin binding (GO:0048185)|activin receptor activity, type I (GO:0016361)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|SMAD binding (GO:0046332)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta receptor activity, type I (GO:0005025)|transforming growth factor beta-activated receptor activity (GO:0005024)|transmembrane receptor protein serine/threonine kinase activity (GO:0004675)	p.R411Q(3)		breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	20				BRCA - Breast invasive adenocarcinoma(357;0.0991)	Adenosine triphosphate(DB00171)	ATTGCCCGCCGGACCATCGTG	0.627																																						ENST00000550683.1																			3	Substitution - Missense(3)	p.R411Q(3)	prostate(2)|lung(1)	breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	20	GRCh37	CM040665|CM960013	ACVRL1	M	rs121909284	c.(1273-1275)cGg>cAg		activin A receptor type II-like 1	Adenosine triphosphate(DB00171)						62	56	58					12																	52310003		2203	4300	6503	SO:0001583	missense	94				blood vessel endothelial cell proliferation involved in sprouting angiogenesis|blood vessel maturation|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of endothelial cell migration|negative regulation of focal adhesion assembly|positive regulation of BMP signaling pathway|positive regulation of transcription, DNA-dependent|regulation of blood pressure|regulation of blood vessel endothelial cell migration|regulation of DNA replication|regulation of endothelial cell proliferation|transforming growth factor beta receptor signaling pathway|wound healing, spreading of epidermal cells	cell surface|integral to plasma membrane	activin binding|activin receptor activity, type I|ATP binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity	g.chr12:52310003G>A	L17075	CCDS31804.1	12q13.13	2014-09-17			ENSG00000139567	ENSG00000139567			175	protein-coding gene	gene with protein product		601284		ACVRLK1, ORW2		8397373, 8640225	Standard	NM_000020		Approved	HHT2, ALK1, HHT	uc001rzk.3	P37023	OTTHUMG00000169507	ENST00000388922.4:c.1232G>A	12.37:g.52310003G>A	ENSP00000373574:p.Arg411Gln					ACVRL1_ENST00000388922.4_Missense_Mutation_p.R411Q|ACVRL1_ENST00000419526.2_Missense_Mutation_p.R237Q	p.R425Q	NM_001077401.1	NP_001070869.1	P37023	ACVL1_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.0991)	7	1375	+			411		F -> L (in HHT2).|F -> V (in HHT2).|Missing (in HHT2).	Protein kinase.		A6NGA8	Missense_Mutation	SNP	ENST00000388922.4	37	c.1274G>A	CCDS31804.1	.	.	.	.	.	.	.	.	.	.	G	32	5.165216	0.94768	.	.	ENSG00000139567	ENST00000388922;ENST00000267008;ENST00000550683;ENST00000548659;ENST00000419526	D;D;D	0.93763	-3.28;-3.28;-3.28	4.85	4.85	0.62838	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.40818	N	0.001013	D	0.97068	0.9042	M	0.86502	2.82	0.80722	A	1	D;D	0.89917	1.0;1.0	D;D	0.79108	0.99;0.992	D	0.97606	1.0126	9	0.87932	D	0	.	18.144	0.89649	0.0:0.0:1.0:0.0	rs28936398	237;411	E7EN07;P37023	.;ACVL1_HUMAN	Q	411;411;425;237;237	ENSP00000373574:R411Q;ENSP00000447884:R425Q;ENSP00000392492:R237Q	ENSP00000267008:R411Q	R	+	2	0	ACVRL1	50596270	1.000000	0.71417	1.000000	0.80357	0.834000	0.47266	9.648000	0.98483	2.695000	0.91970	0.462000	0.41574	CGG		0.627	ACVRL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404520.2			26	37	0	0	0	0.706142	0	26	37					A	52310003	G	A	52310003	3	1	71	1	0	0	0	0	1	0	0	0	225	1116	39	2	1258	2	ACVRL1	12	52310003	Missense_Mutation	SNP	G	TCGA-EJ-5525-01A-01D-1576-08	25200412	52310003	81541892	49	3713											
GLI1	2735	broad.mit.edu	37	chr12	57864730	57864730	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgggatatgggggacctgAaggggcagcagctgagcctt	8	8	17	8	0	1	2	0	2	1	0	1	4	1	4	2	5	3	3	2	5	2	2			TCGA-EJ-5525-01A-01D-1576-08	TCGA-EJ-5525-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3953b74a-6ac2-443c-9c61-be6894c76d92	800eb17e-206d-461a-8dad-15d3a09dfb9a	g.chr12:57864730A>T	ENST00000228682.2	+	12	2298	c.2207A>T	c.(2206-2208)gAa>gTa	p.E736V	GLI1_ENST00000546141.1_Missense_Mutation_p.E695V|GLI1_ENST00000543426.1_Missense_Mutation_p.E608V	NM_005269.2	NP_005260.1	P08151	GLI1_HUMAN	GLI family zinc finger 1	736					cerebellar cortex morphogenesis (GO:0021696)|digestive tract morphogenesis (GO:0048546)|dorsal/ventral pattern formation (GO:0009953)|epidermal cell differentiation (GO:0009913)|lung development (GO:0030324)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|notochord regression (GO:0060032)|osteoblast differentiation (GO:0001649)|pituitary gland development (GO:0021983)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|proximal/distal pattern formation (GO:0009954)|regulation of smoothened signaling pathway (GO:0008589)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation (GO:0021938)|spermatogenesis (GO:0007283)|ventral midline development (GO:0007418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|primary cilium (GO:0072372)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|transcription regulatory region DNA binding (GO:0044212)	p.E736V(1)		NS(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(8)|lung(22)|ovary(6)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69			GBM - Glioblastoma multiforme(3;3.99e-32)			GGGGGACCTGAAGGGGCAGCA	0.602																																					Pancreas(157;841 1936 10503 41495 50368)	ENST00000228682.2																			1	Substitution - Missense(1)	p.E736V(1)	prostate(1)	NS(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(8)|lung(22)|ovary(6)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69						c.(2206-2208)gAa>gTa		GLI family zinc finger 1							83	90	88					12																	57864730		2203	4300	6503	SO:0001583	missense	2735				epidermal cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|osteoblast differentiation|positive regulation of DNA replication|positive regulation of smoothened signaling pathway|positive regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	transcription regulatory region DNA binding|zinc ion binding	g.chr12:57864730A>T		CCDS8940.1, CCDS53806.1, CCDS53807.1	12q13.2-q13.3	2013-01-25	2009-03-05	2005-01-14		ENSG00000111087		"Zinc fingers, C2H2-type"	4317	protein-coding gene	gene with protein product		165220	"glioma-associated oncogene homolog 1 (zinc finger protein)", "glioma-associated oncogene family zinc finger 1"	GLI		2850480	Standard	NM_005269		Approved		uc001snx.3	P08151		ENST00000228682.2:c.2207A>T	12.37:g.57864730A>T	ENSP00000228682:p.Glu736Val					GLI1_ENST00000546141.1_Missense_Mutation_p.E695V|GLI1_ENST00000543426.1_Missense_Mutation_p.E608V	p.E736V	NM_005269.2	NP_005260.1	P08151	GLI1_HUMAN	GBM - Glioblastoma multiforme(3;3.99e-32)		12	2298	+			736					D0EUY3|E9PQQ9|F5H6H8|Q8TDN9	Missense_Mutation	SNP	ENST00000228682.2	37	c.2207A>T	CCDS8940.1	.	.	.	.	.	.	.	.	.	.	A	13.29	2.194258	0.38806	.	.	ENSG00000111087	ENST00000543426;ENST00000228682;ENST00000546141;ENST00000528467	T;T;T;T	0.13901	2.66;2.55;2.63;2.63	4.62	3.43	0.39272	.	0.320957	0.22605	N	0.057906	T	0.07638	0.0192	N	0.22421	0.69	0.09310	N	0.999997	B	0.27625	0.183	B	0.22386	0.039	T	0.31251	-0.9950	10	0.27785	T	0.31	.	5.5923	0.17307	0.7352:0.1756:0.0893:0.0	.	736	P08151	GLI1_HUMAN	V	608;736;695;695	ENSP00000437607:E608V;ENSP00000228682:E736V;ENSP00000441006:E695V;ENSP00000434408:E695V	ENSP00000228682:E736V	E	+	2	0	GLI1	56150997	0.000000	0.05858	0.040000	0.18447	0.931000	0.56810	0.055000	0.14229	0.876000	0.35872	0.397000	0.26171	GAA		0.602	GLI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394197.1	NM_005269		69	129	0	0	0	0.870114	0	69	129					T	57864730	A	T	57864730	3	4	71	1	0	0	0	0	1	0	0	0	6437	246	9	5	2249	5	GLI1	12	57864730	Missense_Mutation	SNP	A	TCGA-EJ-5525-01A-01D-1576-08	5554727	57864730	75987165	50	3714											
CCDC41	51134	broad.mit.edu	37	chr12	94763729	94763729	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttgaatcttattcctttcTctttctagctcactcttagc	6	20	3	12	0	5	1	1	1	4	0	7	1	6	1	1	0	2	1	1	0	4	7			TCGA-EJ-5525-01A-01D-1576-08	TCGA-EJ-5525-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3953b74a-6ac2-443c-9c61-be6894c76d92	800eb17e-206d-461a-8dad-15d3a09dfb9a	g.chr12:94763729T>C	ENST00000397809.5	-	9	1566	c.1017A>G	c.(1015-1017)agA>agG	p.R339R	CCDC41_ENST00000397807.2_Silent_p.R306R|CCDC41_ENST00000339839.5_Silent_p.R339R|CCDC41_ENST00000547575.1_Silent_p.R339R|CCDC41_ENST00000549352.1_5'UTR	NM_016122.2	NP_057206.2	Q9Y592	CEP83_HUMAN		331					cilium assembly (GO:0042384)|protein localization to centrosome (GO:0071539)|vesicle docking (GO:0048278)	centriole (GO:0005814)|ciliary transition fiber (GO:0097539)|Golgi apparatus (GO:0005794)		p.R339R(1)		breast(1)|central_nervous_system(3)|kidney(3)|large_intestine(8)|lung(8)|prostate(2)|skin(2)	27						TATTCCTTTCTCTTTCTAGCT	0.333																																						ENST00000397809.5																			1	Substitution - coding silent(1)	p.R339R(1)	prostate(1)	breast(1)|central_nervous_system(3)|kidney(3)|large_intestine(8)|lung(8)|prostate(2)|skin(2)	27						c.(1015-1017)agA>agG		coiled-coil domain containing 41							254	248	250					12																	94763729		1927	4154	6081	SO:0001819	synonymous_variant	51134							g.chr12:94763729T>C																												ENST00000397809.5:c.1017A>G	12.37:g.94763729T>C						CCDC41_ENST00000549352.1_5'UTR|CCDC41_ENST00000397807.2_Silent_p.R306R|CCDC41_ENST00000339839.5_Silent_p.R339R|CCDC41_ENST00000547575.1_Silent_p.R339R	p.R339R	NM_016122.2	NP_057206.2	Q9Y592	CCD41_HUMAN			9	1566	-			331					A4FVB1|Q08AP1	Silent	SNP	ENST00000397809.5	37	c.1017A>G	CCDS41820.1																																																																																				0.333	CCDC41-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408147.3			5	411	0	0	0	0.184627	0	5	411					C	94763729	T	C	94763729	2	2	71	1	0	0	0	0	0	0	0	1	2813	1548	54	4		4	CCDC41	12	94763729	Silent	SNP	T	TCGA-EJ-5525-01A-01D-1576-08	36898999	94763729	39088166	51	3715											
MYO1H	283446	broad.mit.edu	37	chr12	109849777	109849777	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aagagaaagtgggcaaacatGcacacttcgaaacgtacata	18	6	9	8	2	0	1	0	0	0	1	1	3	0	1	0	1	4	3	0	1	6	3			TCGA-EJ-5525-01A-01D-1576-08	TCGA-EJ-5525-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3953b74a-6ac2-443c-9c61-be6894c76d92	800eb17e-206d-461a-8dad-15d3a09dfb9a	g.chr12:109849777G>A	ENST00000431443.2	+	13	1471	c.1471G>A	c.(1471-1473)Gca>Aca	p.A491T	MYO1H_ENST00000310903.5_Missense_Mutation_p.A481T	NM_001101421.3	NP_001094891.3	Q8N1T3	MYO1H_HUMAN	myosin IH	491	Myosin motor.					myosin complex (GO:0016459)	ATP binding (GO:0005524)|motor activity (GO:0003774)	p.A481T(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(17)|prostate(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	47						GGGCAAACATGCACACTTCGA	0.398																																						ENST00000310903.5																			1	Substitution - Missense(1)	p.A481T(1)	prostate(1)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(17)|prostate(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	47						c.(1441-1443)Gca>Aca		myosin IH							97	84	88					12																	109849777		1895	4128	6023	SO:0001583	missense	283446					myosin complex	motor activity	g.chr12:109849777G>A		CCDS53826.1	12q24.11	2011-09-27			ENSG00000174527	ENSG00000174527		"Myosins / Myosin superfamily : Class I"	13879	protein-coding gene	gene with protein product		614636					Standard	NM_001101421		Approved	FLJ37587	uc010sxn.1	Q8N1T3	OTTHUMG00000169252	ENST00000431443.2:c.1471G>A	12.37:g.109849777G>A	ENSP00000444076:p.Ala491Thr					MYO1H_ENST00000431443.2_Missense_Mutation_p.A491T	p.A481T			B4DNW6	B4DNW6_HUMAN			14	1547	+			0					F5H3C6	Missense_Mutation	SNP	ENST00000431443.2	37	c.1441G>A		.	.	.	.	.	.	.	.	.	.	G	23.0	4.356573	0.82243	.	.	ENSG00000174527	ENST00000310903;ENST00000431443	D;D	0.87571	-2.27;-2.27	5.08	5.08	0.68730	.	.	.	.	.	D	0.86012	0.5831	L	0.45581	1.43	0.45704	D	0.998616	P	0.51791	0.948	P	0.48227	0.571	D	0.86734	0.1950	9	0.54805	T	0.06	.	12.8599	0.57908	0.0:0.1642:0.8358:0.0	.	481	F5H3C6	.	T	481;491	ENSP00000439182:A481T;ENSP00000444076:A491T	ENSP00000439182:A481T	A	+	1	0	MYO1H	108334160	1.000000	0.71417	0.939000	0.37840	0.816000	0.46133	3.716000	0.54904	2.362000	0.80069	0.563000	0.77884	GCA		0.398	MYO1H-201	KNOWN	basic	protein_coding	protein_coding		NM_173597		9	5	0	0	0	0.307466	0	9	5					A	109849777	G	A	109849777	3	1	71	1	0	0	0	0	1	0	0	0	10075	1319	46	3	1491	3	MYO1H	12	109849777	Missense_Mutation	SNP	G	TCGA-EJ-5525-01A-01D-1576-08	15086048	109849777	24002118	52	3716											
PIWIL1	9271	broad.mit.edu	37	chr12	130839528	130839528	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaggcagcgtgaagtgggaCgactcattgattacattcat	13	10	11	7	2	2	2	2	2	0	0	2	4	2	3	0	2	2	1	0	2	3	3			TCGA-EJ-5525-01A-01D-1576-08	TCGA-EJ-5525-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3953b74a-6ac2-443c-9c61-be6894c76d92	800eb17e-206d-461a-8dad-15d3a09dfb9a	g.chr12:130839528C>T	ENST00000245255.3	+	11	1539	c.1267C>T	c.(1267-1269)Cga>Tga	p.R423*		NM_001190971.1|NM_004764.4	NP_001177900.1|NP_004755.2	Q96J94	PIWL1_HUMAN	piwi-like RNA-mediated gene silencing 1	423					gene silencing by RNA (GO:0031047)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|piRNA metabolic process (GO:0034587)|regulation of translation (GO:0006417)|spermatid development (GO:0007286)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|mRNA cap binding complex (GO:0005845)|P granule (GO:0043186)|polysome (GO:0005844)	mRNA binding (GO:0003729)|piRNA binding (GO:0034584)|single-stranded RNA binding (GO:0003727)	p.R423*(2)		breast(6)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(26)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	57	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;3.02e-06)|Epithelial(86;3.85e-05)|all cancers(50;4.65e-05)		TGAAGTGGGACGACTCATTGA	0.383																																						ENST00000245255.3																			2	Substitution - Nonsense(2)	p.R423*(2)	large_intestine(1)|prostate(1)	breast(6)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(26)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	57						c.(1267-1269)Cga>Tga		piwi-like RNA-mediated gene silencing 1							203	191	195					12																	130839528		2203	4300	6503	SO:0001587	stop_gained	9271				gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatid development	chromatoid body|P granule	mRNA binding|piRNA binding|protein binding	g.chr12:130839528C>T	AF104260	CCDS9268.1	12q24.33	2014-01-21	2013-02-15		ENSG00000125207	ENSG00000125207		"Argonaute/PIWI family"	9007	protein-coding gene	gene with protein product		605571	"piwi (Drosophila)-like 1", "piwi-like 1 (Drosophila)"			9851978, 12906857	Standard	NM_004764		Approved	PIWI, HIWI, CT80.1	uc001uik.3	Q96J94	OTTHUMG00000168382	ENST00000245255.3:c.1267C>T	12.37:g.130839528C>T	ENSP00000245255:p.Arg423*						p.R423*	NM_001190971.1|NM_004764.4	NP_001177900.1|NP_004755.2	Q96J94	PIWL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.02e-06)|Epithelial(86;3.85e-05)|all cancers(50;4.65e-05)	11	1539	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		423					A4F266|O95404|Q8NA60|Q8TBY5|Q96JD5	Nonsense_Mutation	SNP	ENST00000245255.3	37	c.1267C>T	CCDS9268.1	.	.	.	.	.	.	.	.	.	.	C	36	5.971572	0.97162	.	.	ENSG00000125207	ENST00000245255	.	.	.	5.38	1.83	0.25207	.	0.140427	0.64402	D	0.000016	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-21.8838	13.114	0.59289	0.4705:0.5295:0.0:0.0	.	.	.	.	X	423	.	ENSP00000245255:R423X	R	+	1	2	PIWIL1	129405481	0.402000	0.25311	0.037000	0.18230	0.353000	0.29299	1.645000	0.37238	0.076000	0.16826	-0.375000	0.07067	CGA		0.383	PIWIL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399510.1			114	180	0	0	0	0.870114	0	114	180					T	130839528	C	T	130839528	4	4	71	1	0	0	0	0	0	1	0	0	11957	528	19	1	1305	1	PIWIL1	12	130839528	Nonsense_Mutation	SNP	C	TCGA-EJ-5525-01A-01D-1576-08	20989751	130839528	3012367	53	3717											
RNF6	6049	broad.mit.edu	37	chr13	26788080	26788080	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcatgcatgcaaggtaattGcctgagcttgtttccagtta	9	15	9	8	0	1	1	1	1	0	0	2	1	2	1	2	1	4	6	2	1	3	6			TCGA-EJ-5525-01A-01D-1576-08	TCGA-EJ-5525-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3953b74a-6ac2-443c-9c61-be6894c76d92	800eb17e-206d-461a-8dad-15d3a09dfb9a	g.chr13:26788080G>A	ENST00000381588.4	-	5	2691	c.1939C>T	c.(1939-1941)Caa>Taa	p.Q647*	RNF6_ENST00000399762.2_Nonsense_Mutation_p.Q291*|RNF6_ENST00000468480.1_Intron|RNF6_ENST00000346166.3_Nonsense_Mutation_p.Q647*|RNF6_ENST00000381570.3_Nonsense_Mutation_p.Q647*	NM_005977.3	NP_005968.1	Q9Y252	RNF6_HUMAN	ring finger protein (C3H2C3 type) 6	647	Required for polyubiquitination. {ECO:0000250}.				negative regulation of axon extension (GO:0030517)|positive regulation of transcription, DNA-templated (GO:0045893)|protein K27-linked ubiquitination (GO:0044314)|protein K48-linked ubiquitination (GO:0070936)|protein K6-linked ubiquitination (GO:0085020)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of transcription, DNA-templated (GO:0006355)|ubiquitin-dependent protein catabolic process (GO:0006511)	axon (GO:0030424)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|PML body (GO:0016605)	androgen receptor binding (GO:0050681)|DNA binding (GO:0003677)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.Q647*(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(9)|lung(3)|ovary(2)|prostate(2)|skin(2)	23	Colorectal(5;0.000442)	Lung SC(185;0.0156)|Breast(139;0.147)		all cancers(112;0.00893)|Epithelial(112;0.0481)|OV - Ovarian serous cystadenocarcinoma(117;0.148)|GBM - Glioblastoma multiforme(144;0.23)|Lung(94;0.245)		CAAGGTAATTGCCTGAGCTTG	0.408																																						ENST00000381588.4																			1	Substitution - Nonsense(1)	p.Q647*(1)	prostate(1)	breast(2)|endometrium(2)|kidney(1)|large_intestine(9)|lung(3)|ovary(2)|prostate(2)|skin(2)	23						c.(1939-1941)Caa>Taa		ring finger protein (C3H2C3 type) 6							157	143	148					13																	26788080		2203	4300	6503	SO:0001587	stop_gained	6049				negative regulation of axon extension|positive regulation of transcription, DNA-dependent|protein K27-linked ubiquitination|protein K48-linked ubiquitination|protein K6-linked ubiquitination|regulation of androgen receptor signaling pathway|ubiquitin-dependent protein catabolic process	axon|cytoplasm|PML body	androgen receptor binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr13:26788080G>A	AJ010346	CCDS9316.1	13q12.2	2013-01-09			ENSG00000127870	ENSG00000127870		"RING-type (C3HC4) zinc fingers"	10069	protein-coding gene	gene with protein product	"RING-H2 protein RNF-6"	604242				10331950	Standard	NM_005977		Approved	DKFZp686P0776	uc001uqq.3	Q9Y252	OTTHUMG00000016614	ENST00000381588.4:c.1939C>T	13.37:g.26788080G>A	ENSP00000371000:p.Gln647*					RNF6_ENST00000381570.3_Nonsense_Mutation_p.Q647*|RNF6_ENST00000468480.1_Intron|RNF6_ENST00000346166.3_Nonsense_Mutation_p.Q647*|RNF6_ENST00000399762.2_Nonsense_Mutation_p.Q291*	p.Q647*	NM_005977.3	NP_005968.1	Q9Y252	RNF6_HUMAN		all cancers(112;0.00893)|Epithelial(112;0.0481)|OV - Ovarian serous cystadenocarcinoma(117;0.148)|GBM - Glioblastoma multiforme(144;0.23)|Lung(94;0.245)	5	2691	-	Colorectal(5;0.000442)	Lung SC(185;0.0156)|Breast(139;0.147)	647			Required for polyubiquitination (By similarity).		B4DDP0|Q5W0H0|Q9BZP5|Q9UF41	Nonsense_Mutation	SNP	ENST00000381588.4	37	c.1939C>T	CCDS9316.1	.	.	.	.	.	.	.	.	.	.	G	37	6.377626	0.97520	.	.	ENSG00000127870	ENST00000346166;ENST00000381588;ENST00000381570;ENST00000399762	.	.	.	5.01	5.01	0.66863	.	0.139939	0.51477	D	0.000094	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-6.8366	13.7959	0.63171	0.0:0.0:0.8468:0.1532	.	.	.	.	X	647;647;647;291	.	ENSP00000342121:Q647X	Q	-	1	0	RNF6	25686080	1.000000	0.71417	0.992000	0.48379	0.988000	0.76386	4.268000	0.58883	2.763000	0.94921	0.557000	0.71058	CAA		0.408	RNF6-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044246.2	NM_005977		82	39	0	0	0	0.870114	0	82	39					A	26788080	G	A	26788080	4	1	71	1	0	0	0	0	0	1	0	0	13498	1328	46	3	122	3	RNF6	13	26788080	Nonsense_Mutation	SNP	G	TCGA-EJ-5525-01A-01D-1576-08		26788080	88381798	54	3718											
MYCBP2	23077	broad.mit.edu	37	chr13	77718680	77718680	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcattattgacacggatcagCatattctcactgggtctgaa	11	13	8	9	1	4	2	3	2	2	0	5	3	4	3	0	2	1	1	0	2	3	4			TCGA-EJ-5525-01A-01D-1576-08	TCGA-EJ-5525-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3953b74a-6ac2-443c-9c61-be6894c76d92	800eb17e-206d-461a-8dad-15d3a09dfb9a	g.chr13:77718680C>T	ENST00000544440.2	-	49	7106	c.7089G>A	c.(7087-7089)atG>atA	p.M2363I	MYCBP2_ENST00000360084.5_5'UTR|MYCBP2_ENST00000357337.6_Missense_Mutation_p.M2363I|MYCBP2_ENST00000407578.2_Missense_Mutation_p.M2401I					MYC binding protein 2, E3 ubiquitin protein ligase									p.M2363I(2)|p.M2401I(1)		NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		CACGGATCAGCATATTCTCAC	0.368																																						ENST00000407578.2																			3	Substitution - Missense(3)	p.M2363I(2)|p.M2401I(1)	prostate(3)	NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118						c.(7201-7203)atG>atA		MYC binding protein 2, E3 ubiquitin protein ligase							155	141	146					13																	77718680		2203	4300	6503	SO:0001583	missense	23077				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding	g.chr13:77718680C>T	AB020723		13q22	2012-02-23	2012-02-23		ENSG00000005810	ENSG00000005810			23386	protein-coding gene	gene with protein product		610392	"MYC binding protein 2"			9689053, 15057823	Standard	NM_015057		Approved	PAM, KIAA0916, FLJ10106	uc021rks.1	O75592	OTTHUMG00000017105	ENST00000544440.2:c.7089G>A	13.37:g.77718680C>T	ENSP00000444596:p.Met2363Ile					MYCBP2_ENST00000357337.6_Missense_Mutation_p.M2363I|MYCBP2_ENST00000544440.2_Missense_Mutation_p.M2363I|MYCBP2_ENST00000360084.5_5'UTR	p.M2401I	NM_015057.4	NP_055872.4	O75592	MYCB2_HUMAN		GBM - Glioblastoma multiforme(99;0.109)	49	7469	-		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)	2363						Missense_Mutation	SNP	ENST00000544440.2	37	c.7203G>A		.	.	.	.	.	.	.	.	.	.	C	16.35	3.097820	0.56075	.	.	ENSG00000005810	ENST00000357337;ENST00000407578;ENST00000544440	D;D;D	0.83335	-1.71;-1.71;-1.71	5.48	5.48	0.80851	Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.82641	0.5081	L	0.38838	1.175	0.80722	D	1	P	0.35872	0.525	P	0.45428	0.48	T	0.81924	-0.0710	10	0.44086	T	0.13	.	17.5252	0.87798	0.0:1.0:0.0:0.0	.	2363	O75592	MYCB2_HUMAN	I	2363;2401;2363	ENSP00000349892:M2363I;ENSP00000384288:M2401I;ENSP00000444596:M2363I	ENSP00000349892:M2363I	M	-	3	0	MYCBP2	76616681	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.487000	0.81328	2.580000	0.87095	0.561000	0.74099	ATG		0.368	MYCBP2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000045326.1	NM_015057		14	106	0	0	0	0.520397	0	14	106					T	77718680	C	T	77718680	3	4	71	1	0	0	0	0	1	0	0	0	10018	710	25	3	6973	3	MYCBP2	13	77718680	Missense_Mutation	SNP	C	TCGA-EJ-5525-01A-01D-1576-08	50930600	77718680	37451198	55	3719											
PROZ	8858	broad.mit.edu	37	chr13	113824784	113824784	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtggtgttataatacgggaaAattttgtactgacaacagca	14	12	10	5	1	0	1	0	1	0	0	0	2	0	2	0	2	4	3	0	2	7	6			TCGA-EJ-5525-01A-01D-1576-08	TCGA-EJ-5525-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3953b74a-6ac2-443c-9c61-be6894c76d92	800eb17e-206d-461a-8dad-15d3a09dfb9a	g.chr13:113824784A>C	ENST00000375547.2	+	7	638	c.631A>C	c.(631-633)Aat>Cat	p.N211H	PROZ_ENST00000493630.1_3'UTR|PROZ_ENST00000342783.4_Missense_Mutation_p.N233H	NM_003891.2	NP_003882.1	P22891	PROZ_HUMAN	protein Z, vitamin K-dependent plasma glycoprotein	211	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|peptidyl-glutamic acid carboxylation (GO:0017187)|post-translational protein modification (GO:0043687)|proteolysis (GO:0006508)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)	calcium ion binding (GO:0005509)|serine-type endopeptidase activity (GO:0004252)	p.N211H(1)		NS(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(4)|prostate(2)|skin(2)	16	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_lung(25;0.216)	all cancers(43;0.104)		Menadione(DB00170)	AATACGGGAAAATTTTGTACT	0.303																																						ENST00000342783.4																			1	Substitution - Missense(1)	p.N211H(1)	prostate(1)	NS(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(4)|prostate(2)|skin(2)	16						c.(697-699)Aat>Cat		protein Z, vitamin K-dependent plasma glycoprotein	Menadione(DB00170)						60	66	64					13																	113824784		2203	4300	6503	SO:0001583	missense	8858				blood coagulation|peptidyl-glutamic acid carboxylation|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|extracellular region|Golgi lumen	calcium ion binding|serine-type endopeptidase activity	g.chr13:113824784A>C	M55670	CCDS9531.1, CCDS58300.1	13q34	2008-07-18			ENSG00000126231	ENSG00000126231			9460	protein-coding gene	gene with protein product		176895				2244898, 2403355	Standard	NM_001256134		Approved	PZ	uc010agr.2	P22891	OTTHUMG00000017376	ENST00000375547.2:c.631A>C	13.37:g.113824784A>C	ENSP00000364697:p.Asn211His					PROZ_ENST00000493630.1_3'UTR|PROZ_ENST00000375547.2_Missense_Mutation_p.N211H	p.N233H	NM_001256134.1	NP_001243063.1	P22891	PROZ_HUMAN	all cancers(43;0.104)		8	704	+	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_lung(25;0.216)	211			Peptidase S1.		A6NMB4|Q15213|Q5JVF5|Q5JVF6	Missense_Mutation	SNP	ENST00000375547.2	37	c.697A>C	CCDS9531.1	.	.	.	.	.	.	.	.	.	.	A	8.757	0.922717	0.18056	.	.	ENSG00000126231	ENST00000375547;ENST00000342783	D;D	0.89746	-2.56;-2.56	4.02	-2.29	0.06805	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.358290	0.30455	U	0.009598	D	0.87951	0.6307	L	0.56124	1.755	0.09310	N	1	D;P	0.69078	0.997;0.884	D;B	0.63192	0.912;0.362	T	0.78902	-0.2021	10	0.87932	D	0	.	1.357	0.02184	0.4998:0.1378:0.2286:0.1338	.	233;211	P22891-2;P22891	.;PROZ_HUMAN	H	211;233	ENSP00000364697:N211H;ENSP00000344458:N233H	ENSP00000344458:N233H	N	+	1	0	PROZ	112872785	0.000000	0.05858	0.000000	0.03702	0.076000	0.17211	0.099000	0.15210	-0.776000	0.04578	0.260000	0.18958	AAT		0.303	PROZ-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000045845.1	NM_003891		5	70	0	0	0	0.184627	0	5	70					C	113824784	A	C	113824784	3	2	71	1	0	0	0	0	1	0	0	0	12562	14	1	5	657	5	PROZ	13	113824784	Missense_Mutation	SNP	A	TCGA-EJ-5525-01A-01D-1576-08	36106104	113824784	1345094	56	3720											
KIAA1409	57578	broad.mit.edu	37	chr14	94004551	94004551	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aggagctggtctgcgccgtgGaagccgtgatcaggtaacac	9	7	15	10	3	2	1	1	1	1	0	2	3	2	3	2	4	4	2	2	4	2	1			TCGA-EJ-5525-01A-01D-1576-08	TCGA-EJ-5525-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3953b74a-6ac2-443c-9c61-be6894c76d92	800eb17e-206d-461a-8dad-15d3a09dfb9a	g.chr14:94004551G>T	ENST00000393151.2	+	12	1339	c.1339G>T	c.(1339-1341)Gaa>Taa	p.E447*	UNC79_ENST00000256339.4_Nonsense_Mutation_p.E270*|UNC79_ENST00000555664.1_Nonsense_Mutation_p.E447*|UNC79_ENST00000553484.1_Nonsense_Mutation_p.E447*			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	447					behavioral response to ethanol (GO:0048149)|ion transmembrane transport (GO:0034220)|multicellular organism growth (GO:0035264)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.E447*(1)|p.E270*(1)		breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						CTGCGCCGTGGAAGCCGTGAT	0.557																																						ENST00000553484.1																			2	Substitution - Nonsense(2)	p.E447*(1)|p.E270*(1)	prostate(2)	breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						c.(1339-1341)Gaa>Taa		unc-79 homolog (C. elegans)							35	33	33					14																	94004551		2203	4300	6503	SO:0001587	stop_gained	57578					integral to membrane		g.chr14:94004551G>T	AB037830	CCDS9911.2	14q32.13	2011-08-18	2011-08-18	2011-08-18	ENSG00000133958	ENSG00000133958			19966	protein-coding gene	gene with protein product			"KIAA1409"	KIAA1409		20714347, 21040849	Standard	NM_020818		Approved		uc001ybs.1	Q9P2D8	OTTHUMG00000029783	ENST00000393151.2:c.1339G>T	14.37:g.94004551G>T	ENSP00000376858:p.Glu447*					UNC79_ENST00000555664.1_Nonsense_Mutation_p.E447*|UNC79_ENST00000256339.4_Nonsense_Mutation_p.E270*|UNC79_ENST00000393151.2_Nonsense_Mutation_p.E447*	p.E447*			Q9P2D8	UNC79_HUMAN			12	1493	+			447					B5MDL6|Q6ZUT7	Nonsense_Mutation	SNP	ENST00000393151.2	37	c.1339G>T		.	.	.	.	.	.	.	.	.	.	G	38	7.058903	0.98032	.	.	ENSG00000133958	ENST00000256339;ENST00000555664;ENST00000553484;ENST00000393151;ENST00000393153	.	.	.	5.39	4.49	0.54785	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-19.1112	14.2719	0.66157	0.072:0.0:0.928:0.0	.	.	.	.	X	270;447;447;447;447	.	ENSP00000256339:E270X	E	+	1	0	KIAA1409	93074304	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	9.537000	0.98070	1.389000	0.46526	0.561000	0.74099	GAA		0.557	UNC79-006	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000412766.1	XM_028395		16	15	1	0	1.67942e-08	0.539581	1.79015e-08	16	15					T	94004551	G	T	94004551	4	4	71	1	0	0	0	0	0	1	0	0	8230	1175	41	5	842	5	KIAA1409	14	94004551	Nonsense_Mutation	SNP	G	TCGA-EJ-5525-01A-01D-1576-08		94004551	13344989	57	3721											
TRPM1	4308	broad.mit.edu	37	chr15	31294406	31294406	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tctgtgctatgagagcgcgtGatcttttgaacttggcattg	7	15	12	7	2	2	3	0	3	2	1	2	4	2	3	0	1	3	2	0	1	2	5			TCGA-EJ-5525-01A-01D-1576-08	TCGA-EJ-5525-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3953b74a-6ac2-443c-9c61-be6894c76d92	800eb17e-206d-461a-8dad-15d3a09dfb9a	g.chr15:31294406G>A	ENST00000256552.6	-	28	4644	c.4497C>T	c.(4495-4497)atC>atT	p.I1499I	TRPM1_ENST00000397795.2_Silent_p.I1477I|RP11-348B17.1_ENST00000561299.1_RNA|TRPM1_ENST00000542188.1_Silent_p.I1516I	NM_001252024.1	NP_001238953.1			transient receptor potential cation channel, subfamily M, member 1									p.I1477I(1)		NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		GAGAGCGCGTGATCTTTTGAA	0.478																																						ENST00000542188.1																			1	Substitution - coding silent(1)	p.I1477I(1)	prostate(1)	NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99						c.(4546-4548)atC>atT		transient receptor potential cation channel, subfamily M, member 1							225	207	213					15																	31294406		2020	4182	6202	SO:0001819	synonymous_variant	4308				cellular response to light stimulus|visual perception	integral to plasma membrane	calcium channel activity|receptor activity	g.chr15:31294406G>A	AF071787	CCDS10024.2, CCDS58345.1, CCDS58346.1, CCDS58347.1	15q13.3	2014-01-28		2002-01-18	ENSG00000134160	ENSG00000134160		"Voltage-gated ion channels / Transient receptor potential cation channels"	7146	protein-coding gene	gene with protein product		603576	"melastatin 1"	MLSN1		9806836, 9537257, 16382100	Standard	NM_001252020		Approved	LTRPC1, CSNB1C	uc021sia.1	Q7Z4N2	OTTHUMG00000129267	ENST00000256552.6:c.4497C>T	15.37:g.31294406G>A						RP11-348B17.1_ENST00000561299.1_RNA|TRPM1_ENST00000256552.6_Silent_p.I1499I|TRPM1_ENST00000397795.2_Silent_p.I1477I	p.I1516I	NM_001252020.1	NP_001238949.1	Q7Z4N2	TRPM1_HUMAN		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)	27	4861	-		all_lung(180;1.92e-11)	1477						Silent	SNP	ENST00000256552.6	37	c.4548C>T	CCDS58346.1																																																																																				0.478	TRPM1-004	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417166.2	NM_002420		12	452	0	0	0	0.457914	0	12	452					A	31294406	G	A	31294406	2	1	71	1	0	0	0	0	0	0	0	1	16582	1280	45	3		3	TRPM1	15	31294406	Silent	SNP	G	TCGA-EJ-5525-01A-01D-1576-08		31294406	71236986	58	3722											
MYO5C	55930	broad.mit.edu	37	chr15	52571856	52571856	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggcagagattctggattgaCagaataatccagctcctatg	13	10	10	8	0	1	3	0	1	1	2	3	5	3	4	2	2	1	2	2	2	3	4			TCGA-EJ-5525-01A-01D-1576-08	TCGA-EJ-5525-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3953b74a-6ac2-443c-9c61-be6894c76d92	800eb17e-206d-461a-8dad-15d3a09dfb9a	g.chr15:52571856C>G	ENST00000261839.7	-	3	315	c.154G>C	c.(154-156)Gtc>Ctc	p.V52L	MYO5C_ENST00000443683.2_5'UTR|MIR1266_ENST00000408125.1_RNA|MYO5C_ENST00000541028.1_5'UTR	NM_018728.3	NP_061198.2	Q9NQX4	MYO5C_HUMAN	myosin VC	52						extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)	ATP binding (GO:0005524)|motor activity (GO:0003774)	p.V52L(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(7)|large_intestine(15)|lung(12)|ovary(7)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66				all cancers(107;0.0137)		TCTGGATTGACAGAATAATCC	0.468																																						ENST00000261839.7																			1	Substitution - Missense(1)	p.V52L(1)	prostate(1)	breast(1)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(7)|large_intestine(15)|lung(12)|ovary(7)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66						c.(154-156)Gtc>Ctc		myosin VC							40	39	39					15																	52571856		1849	4102	5951	SO:0001583	missense	55930					myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	g.chr15:52571856C>G	AF272390	CCDS42036.1	15q21	2011-09-27				ENSG00000128833		"Myosins / Myosin superfamily : Class V"	7604	protein-coding gene	gene with protein product	"myosin 5C"	610022				11870218	Standard	NM_018728		Approved	MGC74969	uc010bff.3	Q9NQX4		ENST00000261839.7:c.154G>C	15.37:g.52571856C>G	ENSP00000261839:p.Val52Leu					MYO5C_ENST00000443683.2_5'UTR|MYO5C_ENST00000541028.1_5'UTR	p.V52L	NM_018728.3	NP_061198.2	Q9NQX4	MYO5C_HUMAN		all cancers(107;0.0137)	3	315	-			52			Myosin head-like.		Q6P1W8	Missense_Mutation	SNP	ENST00000261839.7	37	c.154G>C	CCDS42036.1	.	.	.	.	.	.	.	.	.	.	C	4.749	0.139308	0.09083	.	.	ENSG00000128833	ENST00000261839;ENST00000541028	D	0.95001	-3.58	5.88	-11.8	0.00035	.	1.030760	0.07670	N	0.935351	D	0.83408	0.5248	N	0.11673	0.155	0.28429	N	0.917331	B;B	0.06786	0.001;0.0	B;B	0.12837	0.008;0.001	T	0.66472	-0.5915	10	0.13470	T	0.59	.	13.6714	0.62427	0.0796:0.6862:0.1587:0.0756	.	15;52	F5H231;Q9NQX4	.;MYO5C_HUMAN	L	52;15	ENSP00000261839:V52L	ENSP00000261839:V52L	V	-	1	0	MYO5C	50359148	0.000000	0.05858	0.000000	0.03702	0.045000	0.14185	-2.184000	0.01254	-2.631000	0.00434	0.557000	0.71058	GTC		0.468	MYO5C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419562.1	NM_018728		29	30	0	0	0	0.706142	0	29	30					G	52571856	C	G	52571856	3	3	71	1	0	0	0	0	1	0	0	0	10080	478	17	5	5230	5	MYO5C	15	52571856	Missense_Mutation	SNP	C	TCGA-EJ-5525-01A-01D-1576-08	21277450	52571856	49959536	59	3723											
THSD4	79875	broad.mit.edu	37	chr15	72039268	72039268	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gccgccaggtgtacgccaacCgcagcctgacggtgcagccc	7	4	13	17	4	0	1	0	1	0	0	0	1	0	1	6	2	5	3	6	2	2	1			TCGA-EJ-5525-01A-01D-1576-08	TCGA-EJ-5525-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3953b74a-6ac2-443c-9c61-be6894c76d92	800eb17e-206d-461a-8dad-15d3a09dfb9a	g.chr15:72039268C>A	ENST00000355327.3	+	13	2262	c.2128C>A	c.(2128-2130)Cgc>Agc	p.R710S	THSD4_ENST00000357769.4_Missense_Mutation_p.R350S|THSD4_ENST00000567838.1_3'UTR|THSD4_ENST00000261862.6_Missense_Mutation_p.R710S			Q6ZMP0	THSD4_HUMAN	thrombospondin, type I, domain containing 4	710	TSP type-1 2. {ECO:0000255|PROSITE- ProRule:PRU00210}.				elastic fiber assembly (GO:0048251)	extracellular vesicular exosome (GO:0070062)|microfibril (GO:0001527)	metalloendopeptidase activity (GO:0004222)	p.R710S(1)		breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						GTACGCCAACCGCAGCCTGAC	0.637																																						ENST00000355327.3																			1	Substitution - Missense(1)	p.R710S(1)	prostate(1)	breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						c.(2128-2130)Cgc>Agc		thrombospondin, type I, domain containing 4							37	46	43					15																	72039268		2178	4282	6460	SO:0001583	missense	79875					proteinaceous extracellular matrix	metalloendopeptidase activity	g.chr15:72039268C>A	AK023772	CCDS10238.2, CCDS66817.1	15q23	2009-11-09			ENSG00000187720	ENSG00000187720			25835	protein-coding gene	gene with protein product		614476				19734141	Standard	NM_001286429		Approved	FVSY9334, PRO34005, FLJ13710, ADAMTSL6	uc002atb.1	Q6ZMP0	OTTHUMG00000133389	ENST00000355327.3:c.2128C>A	15.37:g.72039268C>A	ENSP00000347484:p.Arg710Ser					THSD4_ENST00000357769.4_Missense_Mutation_p.R350S|THSD4_ENST00000567838.1_3'UTR|THSD4_ENST00000261862.6_Missense_Mutation_p.R710S	p.R710S			Q6ZMP0	THSD4_HUMAN			13	2262	+			710			TSP type-1 2.		B2RTY3|B4DR13|Q6MZI3|Q6UXZ8|Q9H8E4	Missense_Mutation	SNP	ENST00000355327.3	37	c.2128C>A	CCDS10238.2	.	.	.	.	.	.	.	.	.	.	C	16.42	3.118321	0.56505	.	.	ENSG00000187720	ENST00000355327;ENST00000261862;ENST00000357769	T;T;T	0.62498	0.02;0.02;0.31	5.08	4.13	0.48395	.	.	.	.	.	T	0.43122	0.1233	N	0.12471	0.22	0.48696	D	0.999693	B;P	0.45715	0.392;0.865	B;B	0.43783	0.093;0.431	T	0.28650	-1.0037	9	0.09590	T	0.72	.	12.7162	0.57117	0.1646:0.8354:0.0:0.0	.	350;710	B4DR13;Q6ZMP0	.;THSD4_HUMAN	S	710;710;350	ENSP00000347484:R710S;ENSP00000261862:R710S;ENSP00000350413:R350S	ENSP00000261862:R710S	R	+	1	0	THSD4	69826322	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	5.723000	0.68492	2.347000	0.79759	0.650000	0.86243	CGC		0.637	THSD4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257253.2	NM_024817		3	45	1	0	0.115264	0.115264	0.117691	3	45					A	72039268	C	A	72039268	3	1	71	1	0	0	0	0	1	0	0	0	15875	652	23	5	2174	5	THSD4	15	72039268	Missense_Mutation	SNP	C	TCGA-EJ-5525-01A-01D-1576-08	19467412	72039268	30492124	60	3724											
TP53	7157	broad.mit.edu	37	chr17	7578242	7578242	+	Frame_Shift_Del	DEL	C	C	-																															tctgtcatccaaatactccaCacgcaaatttccttccactc																										TCGA-EJ-5525-01A-01D-1576-08	TCGA-EJ-5525-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3953b74a-6ac2-443c-9c61-be6894c76d92	800eb17e-206d-461a-8dad-15d3a09dfb9a	g.chr17:7578242delC	ENST00000269305.4	-	6	796	c.607delG	c.(607-609)gtgfs	p.V203fs	TP53_ENST00000420246.2_Frame_Shift_Del_p.V203fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.V203fs|TP53_ENST00000574684.1_Intron|TP53_ENST00000455263.2_Frame_Shift_Del_p.V203fs|TP53_ENST00000413465.2_Frame_Shift_Del_p.V203fs|TP53_ENST00000359597.4_Frame_Shift_Del_p.V203fs	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	203	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		V -> A (in sporadic cancers; somatic mutation).|V -> E (in sporadic cancers; somatic mutation).|V -> L (in sporadic cancers; somatic mutation).|V -> M (in sporadic cancers; somatic mutation).|V -> W (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|VE -> LV (in a sporadic cancer; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.0?(8)|p.?(5)|p.V203L(3)|p.V203fs*44(2)|p.V203M(2)|p.N200fs*4(1)|p.V203_E204>LV(1)|p.G199fs*42(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	AAATACTCCACACGCAAATTT	0.557		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"Mis, N, F"	tumor protein p53			"L, E, M, O"		"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"	"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"		23	Whole gene deletion(8)|Substitution - Missense(5)|Unknown(5)|Deletion - Frameshift(4)|Complex - compound substitution(1)	p.0?(8)|p.?(5)|p.V203L(3)|p.V203fs*44(2)|p.V203M(2)|p.N200fs*4(1)|p.V203_E204>LV(1)|p.G199fs*42(1)	biliary_tract(5)|oesophagus(4)|bone(4)|central_nervous_system(2)|lung(2)|stomach(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|urinary_tract(1)|breast(1)|ovary(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185						c.(607-609)tgfs	Other conserved DNA damage response genes	tumor protein p53							131	116	121					17																	7578242		2203	4300	6503	SO:0001589	frameshift_variant	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578242delC	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"Li-Fraumeni syndrome"	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.607delG	17.37:g.7578242delC	ENSP00000269305:p.Val203fs	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_ENST00000269305.4_Frame_Shift_Del_p.V203fs|TP53_ENST00000413465.2_Frame_Shift_Del_p.V203fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.V203fs|TP53_ENST00000574684.1_Intron|TP53_ENST00000455263.2_Frame_Shift_Del_p.V203fs|TP53_ENST00000359597.4_Frame_Shift_Del_p.V203fs	p.V203fs	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	6	739	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	203		V -> A (in sporadic cancers; somatic mutation).|V -> E (in sporadic cancers; somatic mutation).|V -> L (in sporadic cancers; somatic mutation).|V -> M (in sporadic cancers; somatic mutation).|V -> W (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|VE -> LV (in a sporadic cancer; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Frame_Shift_Del	DEL	ENST00000269305.4	37	c.607delG	CCDS11118.1																																																																																				0.557	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		28	13						28	13	---	---	---	---	-	7578242	C	-	7578242	7	5	71	1	0	1	0	1	0	0	0	0	16378	478	17	0	687	0	TP53	17	7578242	Frame_Shift_Del	DEL	C	TCGA-EJ-5525-01A-01D-1576-08		7578242	73616968	61	3725											
LRRC37B	114659	broad.mit.edu	37	chr17	30349140	30349140	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccactgaatcatgaagtgacAgttcaacctccaggtgagga	13	8	10	10	0	2	4	2	4	0	0	3	5	3	5	3	2	1	1	3	2	3	1			TCGA-EJ-5525-01A-01D-1576-08	TCGA-EJ-5525-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3953b74a-6ac2-443c-9c61-be6894c76d92	800eb17e-206d-461a-8dad-15d3a09dfb9a	g.chr17:30349140A>C	ENST00000341671.7	+	1	980	c.975A>C	c.(973-975)acA>acC	p.T325T	LRRC37B_ENST00000543378.2_Silent_p.T243T|LRRC37B_ENST00000584368.1_Silent_p.T337T|LRRC37B_ENST00000327564.7_Silent_p.T352T|LRRC37B_ENST00000394713.3_Silent_p.T325T	NM_052888.2	NP_443120.2	Q96QE4	LR37B_HUMAN	leucine rich repeat containing 37B	325						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)		p.T325T(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	29		Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.111)|Ovarian(249;0.182)|Breast(31;0.244)				ATGAAGTGACAGTTCAACCTC	0.483																																						ENST00000327564.7																			1	Substitution - coding silent(1)	p.T325T(1)	prostate(1)	endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	29						c.(1054-1056)acA>acC		leucine rich repeat containing 37B							82	89	87					17																	30349140		2203	4300	6503	SO:0001819	synonymous_variant	114659					integral to membrane		g.chr17:30349140A>C	AJ314647	CCDS32609.1	17q11.2	2006-11-29		2005-08-09	ENSG00000185158	ENSG00000185158			29070	protein-coding gene	gene with protein product	"KIAA0563-related"					11468690, 10843809	Standard	NM_052888		Approved		uc002hgu.3	Q96QE4	OTTHUMG00000132785	ENST00000341671.7:c.975A>C	17.37:g.30349140A>C						LRRC37B_ENST00000584368.1_Silent_p.T337T|LRRC37B_ENST00000394713.3_Silent_p.T325T|LRRC37B_ENST00000543378.2_Silent_p.T243T|LRRC37B_ENST00000341671.7_Silent_p.T325T	p.T352T			Q96QE4	LR37B_HUMAN			1	1117	+		Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.111)|Ovarian(249;0.182)|Breast(31;0.244)	325					Q17RC9|Q5YKG6	Silent	SNP	ENST00000341671.7	37	c.1056A>C	CCDS32609.1																																																																																				0.483	LRRC37B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446508.1	NM_052888		70	105	0	0	0	0.870114	0	70	105					C	30349140	A	C	30349140	2	2	71	1	0	0	0	0	0	0	0	1	8994	175	7	5		5	LRRC37B	17	30349140	Silent	SNP	A	TCGA-EJ-5525-01A-01D-1576-08	22770898	30349140	50846070	62	3726											
KRT25	147183	broad.mit.edu	37	chr17	38905556	38905556	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gatccataatctttagacttGtaacccccagacttacaggc	12	11	6	12	0	1	2	0	0	1	2	2	3	2	2	3	1	2	1	3	1	4	6			TCGA-EJ-5525-01A-01D-1576-08	TCGA-EJ-5525-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3953b74a-6ac2-443c-9c61-be6894c76d92	800eb17e-206d-461a-8dad-15d3a09dfb9a	g.chr17:38905556G>C	ENST00000312150.4	-	7	1257	c.1197C>G	c.(1195-1197)taC>taG	p.Y399*		NM_181534.3	NP_853512.1			keratin 25									p.Y399*(1)		endometrium(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(4)	16		Breast(137;0.00526)				CTTTAGACTTGTAACCCCCAG	0.353																																						ENST00000312150.4																			1	Substitution - Nonsense(1)	p.Y399*(1)	prostate(1)	endometrium(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(4)	16						c.(1195-1197)taC>taG		keratin 25							154	152	153					17																	38905556		2203	4300	6503	SO:0001587	stop_gained	147183					cytoplasm|intermediate filament	structural molecule activity	g.chr17:38905556G>C	AK129503	CCDS11373.1	17q21.2	2013-01-16	2006-07-17	2006-07-17	ENSG00000204897	ENSG00000204897		"-", "Intermediate filaments type I, keratins (acidic)"	30839	protein-coding gene	gene with protein product			"keratin 25A"	KRT25A		16831889	Standard	NM_181534		Approved		uc002hve.3	Q7Z3Z0	OTTHUMG00000133373	ENST00000312150.4:c.1197C>G	17.37:g.38905556G>C	ENSP00000310573:p.Tyr399*						p.Y399*	NM_181534.3	NP_853512.1	Q7Z3Z0	K1C25_HUMAN			7	1257	-		Breast(137;0.00526)	399			Tail.			Nonsense_Mutation	SNP	ENST00000312150.4	37	c.1197C>G	CCDS11373.1	.	.	.	.	.	.	.	.	.	.	G	35	5.481049	0.96307	.	.	ENSG00000204897	ENST00000394042;ENST00000312150	.	.	.	5.79	3.82	0.43975	.	0.483471	0.19444	N	0.114105	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.18276	T	0.48	.	8.1482	0.31124	0.2443:0.0:0.7557:0.0	.	.	.	.	X	328;399	.	ENSP00000310573:Y399X	Y	-	3	2	KRT25	36159082	0.997000	0.39634	0.998000	0.56505	0.977000	0.68977	0.512000	0.22755	0.798000	0.33994	0.591000	0.81541	TAC		0.353	KRT25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257218.1	NM_181534		12	280	0	0	0	0.411799	0	12	280					C	38905556	G	C	38905556	4	2	71	1	0	0	0	0	0	1	0	0	8462	1372	48	5	163	5	KRT25	17	38905556	Nonsense_Mutation	SNP	G	TCGA-EJ-5525-01A-01D-1576-08	8556416	38905556	42289654	63	3727											
SCN4A	6329	broad.mit.edu	37	chr17	62050100	62050100	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgctgcagccgggcctcctcCtccaccgcccgctgttctat	3	9	9	20	4	1	0	0	0	1	0	4	0	4	0	7	1	2	4	7	1	1	2			TCGA-EJ-5525-01A-01D-1576-08	TCGA-EJ-5525-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3953b74a-6ac2-443c-9c61-be6894c76d92	800eb17e-206d-461a-8dad-15d3a09dfb9a	g.chr17:62050100C>G	ENST00000435607.1	-	1	178	c.102G>C	c.(100-102)gaG>gaC	p.E34D	SCN4A_ENST00000578147.1_Missense_Mutation_p.E34D|CTC-264K15.6_ENST00000577329.1_lincRNA	NM_000334.4	NP_000325.4	P35499	SCN4A_HUMAN	sodium channel, voltage-gated, type IV, alpha subunit	34					membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)	p.E34D(2)		breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Diclofenac(DB00586)|Flecainide(DB01195)|Propofol(DB00818)|Valproic Acid(DB00313)|Zonisamide(DB00909)	GGGCCTCCTCCTCCACCGCCC	0.622																																						ENST00000578147.1																			2	Substitution - Missense(2)	p.E34D(2)	prostate(2)	breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101						c.(100-102)gaG>gaC		sodium channel, voltage-gated, type IV, alpha subunit	Lamotrigine(DB00555)						22	25	24					17																	62050100		2104	4214	6318	SO:0001583	missense	6329				muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr17:62050100C>G	U24693		17q23.3	2012-02-26	2007-01-23					"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10591	protein-coding gene	gene with protein product		603967		HYKPP		1654742, 1659948, 16382098	Standard	XM_005257566		Approved	Nav1.4, HYPP, SkM1	uc002jds.1	P35499		ENST00000435607.1:c.102G>C	17.37:g.62050100C>G	ENSP00000396320:p.Glu34Asp					SCN4A_ENST00000435607.1_Missense_Mutation_p.E34D	p.E34D			P35499	SCN4A_HUMAN			1	178	-			34					Q15478|Q16447|Q7Z6B1	Missense_Mutation	SNP	ENST00000435607.1	37	c.102G>C	CCDS45761.1	.	.	.	.	.	.	.	.	.	.	C	17.88	3.497118	0.64186	.	.	ENSG00000007314	ENST00000435607	D	0.96802	-4.13	4.39	3.39	0.38822	.	0.000000	0.64402	D	0.000001	D	0.96247	0.8776	M	0.79805	2.47	0.42629	D	0.993373	B	0.34329	0.449	B	0.42959	0.403	D	0.96290	0.9213	10	0.52906	T	0.07	.	11.7916	0.52073	0.0:0.9116:0.0:0.0884	.	34	P35499	SCN4A_HUMAN	D	34	ENSP00000396320:E34D	ENSP00000396320:E34D	E	-	3	2	SCN4A	59403832	1.000000	0.71417	1.000000	0.80357	0.324000	0.28378	1.553000	0.36255	2.283000	0.76528	0.305000	0.20034	GAG		0.622	SCN4A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_000334		16	22	0	0	0	0.500413	0	16	22					G	62050100	C	G	62050100	3	3	71	1	0	0	0	0	1	0	0	0	13920	680	24	5	5504	5	SCN4A	17	62050100	Missense_Mutation	SNP	C	TCGA-EJ-5525-01A-01D-1576-08	23144544	62050100	19145110	64	3728											
SFRS2	6427	broad.mit.edu	37	chr17	74732433	74732456	+	In_Frame_Del	DEL	GACCGAGATCGAGAACGAGTGCGG	GACCGAGATCGAGAACGAGTGCGG	-																															cggatctggacttggaggtcGaccgagatcgagaacgagtg																										TCGA-EJ-5525-01A-01D-1576-08	TCGA-EJ-5525-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3953b74a-6ac2-443c-9c61-be6894c76d92	800eb17e-206d-461a-8dad-15d3a09dfb9a	g.chr17:74732433_74732456delGACCGAGATCGAGAACGAGTGCGG	ENST00000392485.2	-	2	625_648	c.453_476delCCGCACTCGTTCTCGATCTCGGTC	c.(451-477)tcccgcactcgttctcgatctcggtcg>tcg	p.151_159SRTRSRSRS>S	MFSD11_ENST00000586622.1_5'UTR|MFSD11_ENST00000593181.1_5'Flank|RP11-318A15.7_ENST00000587459.1_Intron|SRSF2_ENST00000508921.3_In_Frame_Del_p.139_147SRTRSRSRS>S|MFSD11_ENST00000336509.4_5'Flank|MIR636_ENST00000384825.1_RNA|MFSD11_ENST00000591864.1_5'Flank|SRSF2_ENST00000359995.5_In_Frame_Del_p.151_159SRTRSRSRS>S|MFSD11_ENST00000590514.1_5'Flank|MFSD11_ENST00000355954.3_5'Flank|MFSD11_ENST00000588460.1_5'UTR|MFSD11_ENST00000590393.1_5'Flank	NM_003016.4	NP_003007.2	Q01130	SRSF2_HUMAN	serine/arginine-rich splicing factor 2	151	Arg/Ser-rich (RS domain).				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|regulation of RNA biosynthetic process (GO:2001141)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	extracellular vesicular exosome (GO:0070062)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|transcription corepressor activity (GO:0003714)	p.R156R(1)|p.R136R(1)		haematopoietic_and_lymphoid_tissue(320)|kidney(2)|large_intestine(1)|lung(4)|prostate(2)	329						CTTGGAGGTCGACCGAGATCGAGAACGAGTGCGGGACCGAGACT	0.661			Mis		"MDS, CLL"																																	ENST00000392485.2				Dom	yes		17	17q25	6427	Mis	serine/arginine-rich splicing factor 2			L			"MDS, CLL"		2	Substitution - coding silent(2)	p.R156R(1)|p.R136R(1)	kidney(2)	haematopoietic_and_lymphoid_tissue(320)|kidney(2)|large_intestine(1)|lung(4)|prostate(2)	329						c.(451-477)tcg>tc		serine/arginine-rich splicing factor 2																																				SO:0001651	inframe_deletion	6427				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nuclear speck	nucleotide binding|protein binding|RNA binding|transcription corepressor activity	g.chr17:74732433_74732456delGACCGAGATCGAGAACGAGTGCGG	M90104	CCDS11749.1	17q25.2	2014-09-17	2010-06-22	2010-06-22	ENSG00000161547	ENSG00000161547		"Serine/arginine-rich splicing factors", "RNA binding motif (RRM) containing"	10783	protein-coding gene	gene with protein product	"SR splicing factor 2"	600813	"splicing factor, arginine/serine-rich 2"	SFRS2		8530103, 20516191	Standard	NM_003016		Approved	SC-35, SC35, PR264, SFRS2A	uc002jsv.3	Q01130		ENST00000392485.2:c.453_476delCCGCACTCGTTCTCGATCTCGGTC	17.37:g.74732433_74732456delGACCGAGATCGAGAACGAGTGCGG	ENSP00000376276:p.Ser151_Arg158del					MFSD11_ENST00000588460.1_5'UTR|RP11-318A15.7_ENST00000587459.1_Intron|SRSF2_ENST00000359995.5_In_Frame_Del_p.SRTRSRSRS151del|MFSD11_ENST00000586622.1_5'UTR|SRSF2_ENST00000508921.3_In_Frame_Del_p.SRTRSRSRS139del	p.SRTRSRSRS151del	NM_003016.4	NP_003007.2	Q01130	SRSF2_HUMAN			2	625_648	-			151			Arg/Ser-rich (RS domain).		B3KWD5|B4DN89|H0YG49	In_Frame_Del	DEL	ENST00000392485.2	37	c.453_476delCCGCACTCGTTCTCGATCTCGGTC	CCDS11749.1																																																																																				0.661	SRSF2-003	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437489.1	NM_003016		25	231						25	231	---	---	---	---	-	74732456	GACCGAGATCGAGAACGAGTGCGG	-	74732433	7	5	71	1	0	1	0	1	0	0	0	0	14175	1059	37	0	193	0	SFRS2	17	74732433	In_Frame_Del	DEL	GACCGAGATCGAGAACGAGTGCGG	TCGA-EJ-5525-01A-01D-1576-08	12682333	74732433	6462777	65	3729											
SMAD4	4089	broad.mit.edu	37	chr18	48604690	48604690	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttatgcatactcaggatgagTtttgtgaaaggctggggacc	10	12	13	6	0	1	2	1	2	0	0	1	4	1	4	1	4	2	3	1	4	3	4			TCGA-EJ-5525-01A-01D-1576-08	TCGA-EJ-5525-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3953b74a-6ac2-443c-9c61-be6894c76d92	800eb17e-206d-461a-8dad-15d3a09dfb9a	g.chr18:48604690T>A	ENST00000342988.3	+	12	2050	c.1512T>A	c.(1510-1512)agT>agA	p.S504R	SMAD4_ENST00000586253.1_3'UTR|SMAD4_ENST00000588745.1_Missense_Mutation_p.S408R|SMAD4_ENST00000398417.2_Missense_Mutation_p.S504R	NM_005359.5	NP_005350.1	Q13485	SMAD4_HUMAN	SMAD family member 4	504	MH2. {ECO:0000255|PROSITE- ProRule:PRU00439}.				atrioventricular canal development (GO:0036302)|atrioventricular valve formation (GO:0003190)|axon guidance (GO:0007411)|BMP signaling pathway (GO:0030509)|brainstem development (GO:0003360)|branching involved in ureteric bud morphogenesis (GO:0001658)|cardiac septum development (GO:0003279)|cell proliferation (GO:0008283)|developmental growth (GO:0048589)|endocardial cell differentiation (GO:0060956)|endoderm development (GO:0007492)|endothelial cell activation (GO:0042118)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|formation of anatomical boundary (GO:0048859)|gastrulation with mouth forming second (GO:0001702)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|intracellular signal transduction (GO:0035556)|mesoderm development (GO:0007498)|metanephric mesenchyme morphogenesis (GO:0072133)|negative regulation of cell death (GO:0060548)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nephrogenic mesenchyme morphogenesis (GO:0072134)|neural crest cell differentiation (GO:0014033)|neuron fate commitment (GO:0048663)|palate development (GO:0060021)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation involved in heart valve morphogenesis (GO:0003251)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of binding (GO:0051098)|regulation of hair follicle development (GO:0051797)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|regulation of transforming growth factor beta2 production (GO:0032909)|response to hypoxia (GO:0001666)|response to transforming growth factor beta (GO:0071559)|sebaceous gland development (GO:0048733)|SMAD protein complex assembly (GO:0007183)|SMAD protein signal transduction (GO:0060395)|somite rostral/caudal axis specification (GO:0032525)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	activin responsive factor complex (GO:0032444)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMAD protein complex (GO:0071141)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|I-SMAD binding (GO:0070411)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|R-SMAD binding (GO:0070412)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity (GO:0030616)	p.0?(36)|p.S504R(2)|p.?(2)		NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1)	454		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)		TCAGGATGAGTTTTGTGAAAG	0.488																																						ENST00000342988.3																			40	Whole gene deletion(36)|Substitution - Missense(2)|Unknown(2)	p.0?(36)|p.S504R(2)|p.?(2)	pancreas(26)|large_intestine(3)|breast(3)|stomach(2)|lung(2)|upper_aerodigestive_tract(1)|oesophagus(1)|ovary(1)|prostate(1)	NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1)	454						c.(1510-1512)agT>agA		SMAD family member 4							116	103	107					18																	48604690		2203	4300	6503	SO:0001583	missense	4089				BMP signaling pathway|negative regulation of cell growth|negative regulation of protein catabolic process|negative regulation of transcription, DNA-dependent|palate development|positive regulation of epithelial to mesenchymal transition|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|response to transforming growth factor beta stimulus|SMAD protein complex assembly|SMAD protein signal transduction|transforming growth factor beta receptor signaling pathway	activin responsive factor complex|centrosome|cytosol	I-SMAD binding|protein homodimerization activity|R-SMAD binding|transcription regulatory region DNA binding|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity	g.chr18:48604690T>A	U44378	CCDS11950.1	18q21.1	2014-09-17	2006-11-06	2004-05-26	ENSG00000141646	ENSG00000141646		"SMADs"	6770	protein-coding gene	gene with protein product		600993	"MAD, mothers against decapentaplegic homolog 4 (Drosophila)", "SMAD, mothers against DPP homolog 4 (Drosophila)"	MADH4		8553070, 8774881	Standard	NM_005359		Approved	DPC4	uc010xdp.2	Q13485	OTTHUMG00000132696	ENST00000342988.3:c.1512T>A	18.37:g.48604690T>A	ENSP00000341551:p.Ser504Arg					SMAD4_ENST00000586253.1_3'UTR|SMAD4_ENST00000588745.1_Missense_Mutation_p.S408R|SMAD4_ENST00000398417.2_Missense_Mutation_p.S504R	p.S504R	NM_005359.5	NP_005350.1	Q13485	SMAD4_HUMAN		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)	12	2050	+		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)	504			MH2.		A8K405	Missense_Mutation	SNP	ENST00000342988.3	37	c.1512T>A	CCDS11950.1	.	.	.	.	.	.	.	.	.	.	T	16.16	3.044567	0.55110	.	.	ENSG00000141646	ENST00000342988;ENST00000398417	D;D	0.98876	-5.2;-5.2	6.08	1.31	0.21738	SMAD domain-like (1);SMAD/FHA domain (1);SMAD domain, Dwarfin-type (3);	0.074457	0.85682	D	0.000000	D	0.99115	0.9695	H	0.95679	3.705	0.80722	D	1	D	0.53885	0.963	P	0.62014	0.897	D	0.99383	1.0923	10	0.87932	D	0	.	9.4918	0.38965	0.0:0.5867:0.0:0.4133	.	504	Q13485	SMAD4_HUMAN	R	504	ENSP00000341551:S504R;ENSP00000381452:S504R	ENSP00000341551:S504R	S	+	3	2	SMAD4	46858688	0.931000	0.31567	1.000000	0.80357	0.999000	0.98932	0.003000	0.13083	0.216000	0.20781	0.533000	0.62120	AGT		0.488	SMAD4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255993.3	NM_005359		7	69	0	0	0	0.27861	0	7	69					A	48604690	T	A	48604690	3	1	71	1	0	0	0	0	1	0	0	0	14760	1722	60	5	1554	5	SMAD4	18	48604690	Missense_Mutation	SNP	T	TCGA-EJ-5525-01A-01D-1576-08		48604690	29472558	66	3730											
ABCA7	10347	broad.mit.edu	37	chr19	1058148	1058148	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctcccacccttgagcagaagCtgcaggaggtgagccggatc	9	6	13	13	1	0	3	0	2	0	1	2	5	1	5	3	3	4	3	3	3	1	1			TCGA-EJ-5525-01A-01D-1576-08	TCGA-EJ-5525-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3953b74a-6ac2-443c-9c61-be6894c76d92	800eb17e-206d-461a-8dad-15d3a09dfb9a	g.chr19:1058148C>T	ENST00000263094.6	+	37	5260	c.5029C>T	c.(5029-5031)Ctg>Ttg	p.L1677L	ABCA7_ENST00000433129.1_Silent_p.L1677L|ABCA7_ENST00000435683.2_Silent_p.L1539L	NM_019112.3	NP_061985.2	Q8IZY2	ABCA7_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 7	1677					apolipoprotein A-I-mediated signaling pathway (GO:0038027)|ATP catabolic process (GO:0006200)|cholesterol efflux (GO:0033344)|high-density lipoprotein particle assembly (GO:0034380)|memory (GO:0007613)|negative regulation of amyloid precursor protein biosynthetic process (GO:0042985)|negative regulation of ATPase activity (GO:0032780)|negative regulation of beta-amyloid formation (GO:1902430)|peptide cross-linking (GO:0018149)|phagocytosis (GO:0006909)|phospholipid efflux (GO:0033700)|phospholipid scrambling (GO:0017121)|positive regulation of ATPase activity (GO:0032781)|positive regulation of beta-amyloid clearance (GO:1900223)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of engulfment of apoptotic cell (GO:1901076)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of phagocytosis (GO:0050766)|positive regulation of phospholipid efflux (GO:1902995)|protein localization to nucleus (GO:0034504)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|ATP-binding cassette (ABC) transporter complex (GO:0043190)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|phagocytic cup (GO:0001891)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	apolipoprotein A-I receptor activity (GO:0034188)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|phospholipid transporter activity (GO:0005548)|transporter activity (GO:0005215)	p.L1677L(1)		NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TGAGCAGAAGCTGCAGGAGGT	0.612																																						ENST00000263094.6																			1	Substitution - coding silent(1)	p.L1677L(1)	prostate(1)	NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65						c.(5029-5031)Ctg>Ttg		ATP-binding cassette, sub-family A (ABC1), member 7							88	84	85					19																	1058148		2203	4300	6503	SO:0001819	synonymous_variant	10347				phagocytosis|transmembrane transport	ATP-binding cassette (ABC) transporter complex|endosome membrane|Golgi membrane|integral to membrane|plasma membrane	ATP binding|ATPase activity|transporter activity	g.chr19:1058148C>T	AF328787	CCDS12055.1	19p13.3	2012-03-14			ENSG00000064687	ENSG00000064687		"ATP binding cassette transporters / subfamily A"	37	protein-coding gene	gene with protein product		605414					Standard	NM_019112		Approved	ABCX	uc002lqw.4	Q8IZY2	OTTHUMG00000167547	ENST00000263094.6:c.5029C>T	19.37:g.1058148C>T						ABCA7_ENST00000435683.2_Silent_p.L1539L|ABCA7_ENST00000433129.1_Silent_p.L1677L	p.L1677L	NM_019112.3	NP_061985.2	Q8IZY2	ABCA7_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	37	5260	+		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)	1677					Q96S58|Q9BZC4|Q9NR73|Q9UKP8	Silent	SNP	ENST00000263094.6	37	c.5029C>T	CCDS12055.1	.	.	.	.	.	.	.	.	.	.	C	8.845	0.943133	0.18281	.	.	ENSG00000064687	ENST00000525073	.	.	.	4.52	2.34	0.29019	.	.	.	.	.	T	0.56558	0.1993	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.50955	-0.8766	4	.	.	.	.	8.435	0.32782	0.0:0.7951:0.0:0.2049	.	.	.	.	V	108	.	.	A	+	2	0	ABCA7	1009148	0.172000	0.23043	0.905000	0.35620	0.844000	0.47949	0.740000	0.26188	0.840000	0.34995	0.462000	0.41574	GCT		0.612	ABCA7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000394993.1	NM_019112		38	10	0	0	0	0.788014	0	38	10					T	1058148	C	T	1058148	2	4	71	1	0	0	0	0	0	0	0	1	37	796	28	3		3	ABCA7	19	1058148	Silent	SNP	C	TCGA-EJ-5525-01A-01D-1576-08		1058148	58070835	67	3731											
MAP1S	55201	broad.mit.edu	37	chr19	17836873	17836873	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accgtcccccttcgagctgcTggagcccccgacctccgggg	4	6	12	19	4	0	0	0	0	0	0	3	3	2	1	7	3	3	2	7	3	0	1			TCGA-EJ-5525-01A-01D-1576-08	TCGA-EJ-5525-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3953b74a-6ac2-443c-9c61-be6894c76d92	800eb17e-206d-461a-8dad-15d3a09dfb9a	g.chr19:17836873T>A	ENST00000324096.4	+	5	831	c.680T>A	c.(679-681)cTg>cAg	p.L227Q	MAP1S_ENST00000597681.1_Intron|MAP1S_ENST00000544059.2_Missense_Mutation_p.L201Q|CTD-3149D2.4_ENST00000595363.1_RNA	NM_018174.4	NP_060644.4	Q66K74	MAP1S_HUMAN	microtubule-associated protein 1S	227	Necessary for the microtubule-organizing center localization.				apoptotic DNA fragmentation (GO:0006309)|brain development (GO:0007420)|execution phase of apoptosis (GO:0097194)|microtubule bundle formation (GO:0001578)|mitochondrion transport along microtubule (GO:0047497)|nervous system development (GO:0007399)|neuron projection morphogenesis (GO:0048812)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|microtubule (GO:0005874)|neuronal cell body (GO:0043025)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|synapse (GO:0045202)	actin filament binding (GO:0051015)|beta-tubulin binding (GO:0048487)|DNA binding (GO:0003677)|microtubule binding (GO:0008017)|tubulin binding (GO:0015631)	p.L227Q(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	25						TTCGAGCTGCTGGAGCCCCCG	0.687																																						ENST00000324096.4																			1	Substitution - Missense(1)	p.L227Q(1)	prostate(1)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	25						c.(679-681)cTg>cAg		microtubule-associated protein 1S							22	24	23					19																	17836873		2202	4298	6500	SO:0001583	missense	55201				apoptosis|brain development|microtubule bundle formation|mitochondrion transport along microtubule|neuron projection morphogenesis	cytosol|dendrite|microtubule|neuronal cell body|nucleus|perinuclear region of cytoplasm|spindle|synapse	actin filament binding|beta-tubulin binding|DNA binding|microtubule binding	g.chr19:17836873T>A	BC067115	CCDS32954.1	19p13.12	2008-02-05	2006-07-04	2006-07-04		ENSG00000130479			15715	protein-coding gene	gene with protein product		607573	"chromosome 19 open reading frame 5", "VCY2 interacting protein 1", "BPY2 interacting protein 1"	C19orf5, VCY2IP1, BPY2IP1		11827465, 15528209, 16297881, 14627543	Standard	NM_018174		Approved	FLJ10669, MAP8	uc002nhe.1	Q66K74		ENST00000324096.4:c.680T>A	19.37:g.17836873T>A	ENSP00000325313:p.Leu227Gln					MAP1S_ENST00000597681.1_Intron|MAP1S_ENST00000544059.2_Missense_Mutation_p.L201Q	p.L227Q	NM_018174.4	NP_060644.4	Q66K74	MAP1S_HUMAN			5	831	+			227			Necessary for the microtubule-organizing center localization.		B4DH53|Q27QB1|Q6NXF1|Q8N3L8|Q8N3W5|Q8NI88|Q96H94|Q96IT4|Q96SP8|Q9BRC6|Q9H928|Q9NVK7	Missense_Mutation	SNP	ENST00000324096.4	37	c.680T>A	CCDS32954.1	.	.	.	.	.	.	.	.	.	.	T	16.65	3.183598	0.57800	.	.	ENSG00000130479	ENST00000324096;ENST00000544059	T;T	0.39229	1.09;1.09	4.39	4.39	0.52855	.	0.000000	0.37348	N	0.002122	T	0.64349	0.2590	M	0.81682	2.555	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	T	0.69316	-0.5177	10	0.87932	D	0	-24.4457	11.5458	0.50693	0.0:0.0:0.0:1.0	.	201;227;227	B4DH53;A8K940;Q66K74	.;.;MAP1S_HUMAN	Q	227;201	ENSP00000325313:L227Q;ENSP00000439243:L201Q	ENSP00000325313:L227Q	L	+	2	0	MAP1S	17697873	1.000000	0.71417	0.997000	0.53966	0.140000	0.21249	7.864000	0.87037	1.610000	0.50200	0.459000	0.35465	CTG		0.687	MAP1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466027.1	NM_018174		32	25	0	0	0	0.834066	0	32	25					A	17836873	T	A	17836873	3	1	71	1	0	0	0	0	1	0	0	0	9234	1580	55	5	698	5	MAP1S	19	17836873	Missense_Mutation	SNP	T	TCGA-EJ-5525-01A-01D-1576-08	16778725	17836873	41292110	68	3732											
IRGQ	126298	broad.mit.edu	37	chr19	44099377	44099377	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccggagtccggccgtccctcGggggcctcgagcgtctccac	3	6	14	18	6	1	0	0	0	1	0	6	2	3	1	6	4	1	0	6	4	0	0	rs376357590		TCGA-EJ-5525-01A-01D-1576-08	TCGA-EJ-5525-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3953b74a-6ac2-443c-9c61-be6894c76d92	800eb17e-206d-461a-8dad-15d3a09dfb9a	g.chr19:44099377G>A	ENST00000602269.1	-	1	299	c.114C>T	c.(112-114)ccC>ccT	p.P38P	ZNF576_ENST00000336564.4_5'Flank|SRRM5_ENST00000526798.1_5'Flank|ZNF576_ENST00000533118.1_5'Flank|ZNF576_ENST00000528387.1_5'Flank|ZNF576_ENST00000529930.1_5'Flank|SRRM5_ENST00000607544.1_5'Flank|IRGQ_ENST00000422989.1_Silent_p.P38P|L34079.2_ENST00000594374.1_5'Flank|IRGQ_ENST00000601520.1_5'Flank|ZNF576_ENST00000525771.1_5'Flank|ZNF576_ENST00000391965.2_5'Flank			Q8WZA9	IRGQ_HUMAN	immunity-related GTPase family, Q	38								p.P38P(1)		endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(3)	18		Prostate(69;0.0199)				GCCGTCCCTCGGGGGCCTCGA	0.711																																						ENST00000422989.1																			1	Substitution - coding silent(1)	p.P38P(1)	prostate(1)	endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(3)	18						c.(112-114)ccC>ccT		immunity-related GTPase family, Q							14	16	15					19																	44099377		2156	4201	6357	SO:0001819	synonymous_variant	126298						protein binding	g.chr19:44099377G>A	AF322648	CCDS33040.1	19q13.31	2013-07-03	2005-10-31	2005-10-31		ENSG00000167378			24868	protein-coding gene	gene with protein product			"immunity-related GTPase family, Q1"	IRGQ1		16277747	Standard	NM_001007561		Approved	FKSG27	uc010eiv.2	Q8WZA9		ENST00000602269.1:c.114C>T	19.37:g.44099377G>A						IRGQ_ENST00000602269.1_Silent_p.P38P	p.P38P	NM_001007561.2	NP_001007562.1	Q8WZA9	IRGQ_HUMAN			2	269	-		Prostate(69;0.0199)	38					B2RNP3	Silent	SNP	ENST00000602269.1	37	c.114C>T	CCDS33040.1																																																																																				0.711	IRGQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463205.1	NM_001007561		23	48	0	0	0	0.608945	0	23	48					A	44099377	G	A	44099377	2	1	71	1	0	0	0	0	0	0	0	1	7839	1103	39	2		2	IRGQ	19	44099377	Silent	SNP	G	TCGA-EJ-5525-01A-01D-1576-08	26262504	44099377	15029606	69	3733											
LILRA4	23547	broad.mit.edu	37	chr19	54848198	54848198	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtagcacctgtaggtccccGcgtgggctgaggtcacagga	7	7	15	12	3	1	1	1	1	0	0	2	2	2	2	3	4	1	4	3	4	2	2			TCGA-EJ-5525-01A-01D-1576-08	TCGA-EJ-5525-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3953b74a-6ac2-443c-9c61-be6894c76d92	800eb17e-206d-461a-8dad-15d3a09dfb9a	g.chr19:54848198G>A	ENST00000291759.4	-	6	1225	c.1169C>T	c.(1168-1170)gCg>gTg	p.A390V	AC008984.2_ENST00000507363.1_RNA	NM_012276.3	NP_036408.3	P59901	LIRA4_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 4	390	Ig-like C2-type 4.				immune system process (GO:0002376)	integral component of membrane (GO:0016021)		p.A390V(1)		NS(2)|breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	32	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0565)		GTAGGTCCCCGCGTGGGCTGA	0.622																																						ENST00000291759.4																			1	Substitution - Missense(1)	p.A390V(1)	prostate(1)	NS(2)|breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	32						c.(1168-1170)gCg>gTg		leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 4							153	133	140					19																	54848198		2203	4300	6503	SO:0001583	missense	23547					integral to membrane	receptor activity	g.chr19:54848198G>A	AF041261	CCDS12890.1	19q13.4	2013-01-11			ENSG00000239961	ENSG00000239961		"Leukocyte immunoglobulin-like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	15503	protein-coding gene	gene with protein product		607517				10941842	Standard	NM_012276		Approved	ILT7, CD85g	uc002qfj.3	P59901	OTTHUMG00000065355	ENST00000291759.4:c.1169C>T	19.37:g.54848198G>A	ENSP00000291759:p.Ala390Val					AC008984.2_ENST00000507363.1_RNA	p.A390V	NM_012276.3	NP_036408.3	P59901	LIRA4_HUMAN		GBM - Glioblastoma multiforme(193;0.0565)	6	1225	-	Ovarian(34;0.19)		390			Ig-like C2-type 4.		Q32MC4	Missense_Mutation	SNP	ENST00000291759.4	37	c.1169C>T	CCDS12890.1	.	.	.	.	.	.	.	.	.	.	.	8.572	0.880321	0.17467	.	.	ENSG00000239961	ENST00000291759	T	0.03242	4.0	2.51	-3.26	0.05064	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.818908	0.10130	N	0.712145	T	0.05135	0.0137	M	0.79343	2.45	0.09310	N	1	B	0.20671	0.047	B	0.18263	0.021	T	0.36432	-0.9748	10	0.48119	T	0.1	.	4.1218	0.10109	0.0:0.3231:0.4021:0.2748	.	390	P59901	LIRA4_HUMAN	V	390	ENSP00000291759:A390V	ENSP00000291759:A390V	A	-	2	0	LILRA4	59540010	0.000000	0.05858	0.001000	0.08648	0.043000	0.13939	-0.992000	0.03724	-0.551000	0.06175	-0.519000	0.04390	GCG		0.622	LILRA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000140229.2	NM_012276		86	130	0	0	0	0.870114	0	86	130					A	54848198	G	A	54848198	3	1	71	1	0	0	0	0	1	0	0	0	8787	1087	38	1	342	1	LILRA4	19	54848198	Missense_Mutation	SNP	G	TCGA-EJ-5525-01A-01D-1576-08	10748821	54848198	4280785	70	3734											
ZIK1	284307	broad.mit.edu	37	chr19	58101497	58101497	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	caatcctgtgagatgtgtgtCccagtcctgaaagatatttt	10	14	9	8	0	0	3	0	2	0	2	3	4	3	3	3	0	0	0	3	0	3	3			TCGA-EJ-5525-01A-01D-1576-08	TCGA-EJ-5525-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3953b74a-6ac2-443c-9c61-be6894c76d92	800eb17e-206d-461a-8dad-15d3a09dfb9a	g.chr19:58101497C>T	ENST00000597850.1	+	4	533	c.318C>T	c.(316-318)gtC>gtT	p.V106V	ZIK1_ENST00000536878.2_Silent_p.V93V|ZIK1_ENST00000307468.4_3'UTR|ZIK1_ENST00000599456.1_Silent_p.V51V	NM_001010879.2	NP_001010879.2	Q3SY52	ZIK1_HUMAN	zinc finger protein interacting with K protein 1	106	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.V106V(1)		NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	34		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		AGATGTGTGTCCCAGTCCTGA	0.463																																						ENST00000597850.1																			1	Substitution - coding silent(1)	p.V106V(1)	prostate(1)	NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						c.(316-318)gtC>gtT		zinc finger protein interacting with K protein 1							119	101	107					19																	58101497		2203	4300	6503	SO:0001819	synonymous_variant	284307				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58101497C>T	AK092538	CCDS33135.1	19q13.43	2013-01-08	2012-12-07		ENSG00000171649	ENSG00000171649		"Zinc fingers, C2H2-type", "-"	33104	protein-coding gene	gene with protein product			"zinc finger protein interacting with K protein 1 homolog (mouse)"				Standard	XM_005258769		Approved	ZNF762	uc002qpg.3	Q3SY52		ENST00000597850.1:c.318C>T	19.37:g.58101497C>T						ZIK1_ENST00000307468.4_3'UTR|ZIK1_ENST00000536878.2_Silent_p.V93V|ZIK1_ENST00000599456.1_Silent_p.V51V	p.V106V	NM_001010879.2	NP_001010879.2	Q3SY52	ZIK1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)	4	533	+		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156)	106			KRAB.		O43339|Q3SY51|Q3SY53	Silent	SNP	ENST00000597850.1	37	c.318C>T	CCDS33135.1																																																																																				0.463	ZIK1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466791.1	NM_001010879		50	81	0	0	0	0.870114	0	50	81					T	58101497	C	T	58101497	2	4	71	1	0	0	0	0	0	0	0	1	17680	842	30	3		3	ZIK1	19	58101497	Silent	SNP	C	TCGA-EJ-5525-01A-01D-1576-08	3253299	58101497	1027486	71	3735											
MYH7B	57644	broad.mit.edu	37	chr20	33575571	33575571	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cctccctgcacctccaggtgGtgtttgctgtgggggctctg	2	12	14	13	0	1	0	0	0	1	0	3	0	3	0	4	4	2	4	4	4	0	1			TCGA-EJ-5525-01A-01D-1576-08	TCGA-EJ-5525-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3953b74a-6ac2-443c-9c61-be6894c76d92	800eb17e-206d-461a-8dad-15d3a09dfb9a	g.chr20:33575571G>T	ENST00000262873.7	+	16	1488	c.1396G>T	c.(1396-1398)Gtg>Ttg	p.V466L	MIR499A_ENST00000384903.1_RNA	NM_020884.3	NP_065935.2	A7E2Y1	MYH7B_HUMAN	myosin, heavy chain 7B, cardiac muscle, beta	424	Myosin motor.					membrane (GO:0016020)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)	p.V466L(1)		NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	54			BRCA - Breast invasive adenocarcinoma(18;0.00691)			CCTCCAGGTGGTGTTTGCTGT	0.662																																						ENST00000262873.7																			1	Substitution - Missense(1)	p.V466L(1)	prostate(1)	NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	54						c.(1396-1398)Gtg>Ttg		myosin, heavy chain 7B, cardiac muscle, beta							57	65	63					20																	33575571		2041	4215	6256	SO:0001583	missense	57644					membrane|myosin filament	actin binding|ATP binding|motor activity	g.chr20:33575571G>T	AB040945	CCDS42869.1	20q11	2011-09-27	2006-09-29		ENSG00000078814	ENSG00000078814		"Myosins / Myosin superfamily : Class II"	15906	protein-coding gene	gene with protein product		609928	"myosin, heavy polypeptide 7B, cardiac muscle, beta"			11919279, 15014174	Standard	XM_006723839		Approved	KIAA1512, dJ756N5.1, MYH14, MHC14	uc002xbi.2	A7E2Y1	OTTHUMG00000032320	ENST00000262873.7:c.1396G>T	20.37:g.33575571G>T	ENSP00000262873:p.Val466Leu						p.V466L	NM_020884.3	NP_065935.2	A7E2Y1	MYH7B_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.00691)		16	1488	+			424			Myosin head-like.		Q5JVW7|Q6NT44|Q6NT57|Q6WG75|Q96I57|Q9NWE2|Q9P216	Missense_Mutation	SNP	ENST00000262873.7	37	c.1396G>T	CCDS42869.1	.	.	.	.	.	.	.	.	.	.	G	8.798	0.932106	0.18131	.	.	ENSG00000078814	ENST00000262873	D	0.86956	-2.19	3.53	3.53	0.40419	Myosin head, motor domain (2);	0.000000	0.32624	N	0.005849	T	0.75968	0.3922	N	0.17379	0.485	0.80722	D	1	B	0.09022	0.002	B	0.12156	0.007	T	0.69691	-0.5077	10	0.17369	T	0.5	.	13.7951	0.63166	0.0:0.1546:0.8454:0.0	.	424	A7E2Y1	MYH7B_HUMAN	L	466	ENSP00000262873:V466L	ENSP00000262873:V466L	V	+	1	0	MYH7B	33039232	0.967000	0.33354	1.000000	0.80357	0.934000	0.57294	1.492000	0.35594	2.279000	0.76181	0.561000	0.74099	GTG		0.662	MYH7B-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000078833.2	NM_020884		6	171	1	0	0.000673444	0.361761	0.000694937	6	171					T	33575571	G	T	33575571	3	4	71	1	0	0	0	0	1	0	0	0	10040	1261	44	5	1458	5	MYH7B	20	33575571	Missense_Mutation	SNP	G	TCGA-EJ-5525-01A-01D-1576-08		33575571	29449949	72	3736											
ITSN1	6453	broad.mit.edu	37	chr21	35195922	35195922	+	Frame_Shift_Del	DEL	T	T	-																															tgggcgacaaggccggagtcTtcccttctaactatgtgagg																										TCGA-EJ-5525-01A-01D-1576-08	TCGA-EJ-5525-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3953b74a-6ac2-443c-9c61-be6894c76d92	800eb17e-206d-461a-8dad-15d3a09dfb9a	g.chr21:35195922delT	ENST00000381318.3	+	25	3436	c.3148delT	c.(3148-3150)ttcfs	p.F1050fs	ITSN1_ENST00000399349.1_Intron|ITSN1_ENST00000399367.3_Frame_Shift_Del_p.F1045fs|ITSN1_ENST00000381291.4_Frame_Shift_Del_p.F1050fs|ITSN1_ENST00000437442.2_Frame_Shift_Del_p.F1045fs|ITSN1_ENST00000399353.1_Frame_Shift_Del_p.F1008fs|ITSN1_ENST00000379960.5_Intron|ITSN1_ENST00000399352.1_Frame_Shift_Del_p.F1045fs|ITSN1_ENST00000381285.4_Frame_Shift_Del_p.F1050fs|AP000304.12_ENST00000429238.1_Intron|ITSN1_ENST00000399326.3_Intron|ITSN1_ENST00000399355.2_Intron	NM_003024.2	NP_003015.2	Q15811	ITSN1_HUMAN	intersectin 1 (SH3 domain protein)	1050	SH3 3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				apoptotic signaling pathway (GO:0097190)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|synaptic vesicle endocytosis (GO:0048488)	cell junction (GO:0030054)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|lamellipodium (GO:0030027)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)	calcium ion binding (GO:0005509)|guanyl-nucleotide exchange factor activity (GO:0005085)|kinase activator activity (GO:0019209)|proline-rich region binding (GO:0070064)|protein complex scaffold (GO:0032947)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(26)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	67						GGCCGGAGTCTTCCCTTCTAA	0.473																																						ENST00000381318.3																			0				breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(26)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	67						c.(3148-3150)tcfs		intersectin 1 (SH3 domain protein)							125	113	117					21																	35195922		2203	4300	6503	SO:0001589	frameshift_variant	6453				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic vesicle endocytosis	cell junction|coated pit|cytosol|lamellipodium|synapse|synaptosome	calcium ion binding|proline-rich region binding|protein complex scaffold|Rho guanyl-nucleotide exchange factor activity	g.chr21:35195922delT	AF064244	CCDS33545.1, CCDS33546.1	21q22.1-q22.2	2013-01-10			ENSG00000205726	ENSG00000205726		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing", "EF-hand domain containing"	6183	protein-coding gene	gene with protein product	"SH3 domain protein-1A", "human intersectin-SH3 domain-containing protein SH3P17", "Src homology 3 domain-containing protein", "intersectin 1 short form variant, 11", "intersectin 1 short form variant 3", "intersectin short variant 12"	602442		SH3D1A, ITSN		9799604, 9813051	Standard	NM_003024		Approved	SH3P17, MGC134948, MGC134949	uc002yta.1	Q15811	OTTHUMG00000065284	ENST00000381318.3:c.3148delT	21.37:g.35195922delT	ENSP00000370719:p.Phe1050fs					ITSN1_ENST00000437442.2_Frame_Shift_Del_p.F1045fs|ITSN1_ENST00000381285.4_Frame_Shift_Del_p.F1050fs|ITSN1_ENST00000381291.4_Frame_Shift_Del_p.F1050fs|ITSN1_ENST00000379960.5_Intron|ITSN1_ENST00000399349.1_Intron|ITSN1_ENST00000399326.3_Intron|ITSN1_ENST00000399352.1_Frame_Shift_Del_p.F1045fs|ITSN1_ENST00000399353.1_Frame_Shift_Del_p.F1008fs|ITSN1_ENST00000399355.2_Intron|ITSN1_ENST00000399367.3_Frame_Shift_Del_p.F1045fs|AP000304.12_ENST00000429238.1_Intron	p.F1050fs	NM_003024.2	NP_003015.2	Q15811	ITSN1_HUMAN			25	3436	+			1050			SH3 3.		A7Y322|A8CTX8|A8CTY3|A8CTY7|A8D7D0|A8DCP3|B4DTM2|E7ERJ1|E9PE44|E9PG01|E9PHV2|O95216|Q0PW94|Q0PW95|Q0PW97|Q14BD3|Q1ED40|Q20BK3|Q9UET5|Q9UK60|Q9UNK1|Q9UNK2|Q9UQ92	Frame_Shift_Del	DEL	ENST00000381318.3	37	c.3148delT	CCDS33545.1																																																																																				0.473	ITSN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000140070.4	NM_003024		71	115						71	115	---	---	---	---	-	35195922	T	-	35195922	7	5	71	1	0	1	0	1	0	0	0	0	7926	1609	56	0	3242	0	ITSN1	21	35195922	Frame_Shift_Del	DEL	T	TCGA-EJ-5525-01A-01D-1576-08		35195922	12933973	73	3737											
RRP1	8568	broad.mit.edu	37	chr21	45209622	45209636	+	In_Frame_Del	DEL	GCCAGGACTCAGCGG	GCCAGGACTCAGCGG	-																															agctccggaaatacatcgtcGccaggactcagcgggccgca																										TCGA-EJ-5525-01A-01D-1576-08	TCGA-EJ-5525-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3953b74a-6ac2-443c-9c61-be6894c76d92	800eb17e-206d-461a-8dad-15d3a09dfb9a	g.chr21:45209622_45209636delGCCAGGACTCAGCGG	ENST00000497547.1	+	1	229_243	c.112_126delGCCAGGACTCAGCGG	c.(112-126)gccaggactcagcggdel	p.ARTQR38del		NM_003683.5	NP_003674.1	P05386	RLA1_HUMAN	ribosomal RNA processing 1	0					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)	RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			central_nervous_system(1)|kidney(1)|lung(4)|stomach(2)	8				COAD - Colon adenocarcinoma(84;0.00753)|Colorectal(79;0.0157)|STAD - Stomach adenocarcinoma(101;0.171)		ATACATCGTCGCCAGGACTCAGCGGGCCGCAGGTT	0.749																																						ENST00000497547.1																			0				central_nervous_system(1)|kidney(1)|lung(4)|stomach(2)	8						c.(112-126)del		ribosomal RNA processing 1																																				SO:0001651	inframe_deletion	8568				rRNA processing	nucleolus|preribosome, small subunit precursor		g.chr21:45209622_45209636delGCCAGGACTCAGCGG	U79775	CCDS42951.1	21q22.3	2013-07-02	2013-07-02		ENSG00000160214	ENSG00000160214			18785	protein-coding gene	gene with protein product	"DNA segment on chromosome 21 (unique) 2056 expressed sequence", "Nnp1 homolog, nucleolar protein (Drosophila)"	610653	"ribosomal RNA processing 1 homolog (S. cerevisiae)"			10830953, 10341208	Standard	NM_003683		Approved	NNP-1, Nop52, NOP52, RRP1A, D21S2056E	uc002zds.2	P56182	OTTHUMG00000086884	ENST00000497547.1:c.112_126delGCCAGGACTCAGCGG	21.37:g.45209622_45209636delGCCAGGACTCAGCGG	ENSP00000417464:p.Ala38_Arg42del						p.ARTQR38del	NM_003683.5	NP_003674.1	P56182	RRP1_HUMAN		COAD - Colon adenocarcinoma(84;0.00753)|Colorectal(79;0.0157)|STAD - Stomach adenocarcinoma(101;0.171)	1	229_243	+			38					A6NIB2	In_Frame_Del	DEL	ENST00000497547.1	37	c.112_126delGCCAGGACTCAGCGG	CCDS42951.1																																																																																				0.749	RRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195680.1	NM_003683		4	3						4	3	---	---	---	---	-	45209636	GCCAGGACTCAGCGG	-	45209622	7	5	71	1	0	1	0	1	0	0	0	0	13685	1087	38	0	114	0	RRP1	21	45209622	In_Frame_Del	DEL	GCCAGGACTCAGCGG	TCGA-EJ-5525-01A-01D-1576-08	10013700	45209622	2920273	74	3738											
TRAPPC10	7109	broad.mit.edu	37	chr21	45503102	45503102	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagatgccctcaggggtggcTctggaggagggtgcccacgt	6	7	18	10	1	2	1	1	0	1	1	2	4	2	3	2	6	2	1	2	6	0	0			TCGA-EJ-5525-01A-01D-1576-08	TCGA-EJ-5525-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3953b74a-6ac2-443c-9c61-be6894c76d92	800eb17e-206d-461a-8dad-15d3a09dfb9a	g.chr21:45503102T>C	ENST00000291574.4	+	14	2332	c.2157T>C	c.(2155-2157)gcT>gcC	p.A719A		NM_003274.4	NP_003265.3	P48553	TPC10_HUMAN	trafficking protein particle complex 10	719					sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|vesicle-mediated transport (GO:0016192)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	sodium ion transmembrane transporter activity (GO:0015081)	p.A719A(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(4)	41						CAGGGGTGGCTCTGGAGGAGG	0.572																																						ENST00000291574.4																			1	Substitution - coding silent(1)	p.A719A(1)	prostate(1)	NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(4)	41						c.(2155-2157)gcT>gcC		trafficking protein particle complex 10							89	88	88					21																	45503102		2203	4300	6503	SO:0001819	synonymous_variant	7109				vesicle-mediated transport	Golgi apparatus|integral to membrane	binding|sodium ion transmembrane transporter activity	g.chr21:45503102T>C	U19252	CCDS13704.1	21q22.3	2008-05-07	2008-05-07	2008-05-07	ENSG00000160218	ENSG00000160218		"Trafficking protein particle complex"	11868	protein-coding gene	gene with protein product	"trafficking protein particle complex subunit 130", "TRAPP 130 kDa subunit"	602103	"transmembrane protein 1"	TMEM1		7633421	Standard	NM_003274		Approved	EHOC-1, TRS130	uc002zea.3	P48553	OTTHUMG00000086894	ENST00000291574.4:c.2157T>C	21.37:g.45503102T>C							p.A719A	NM_003274.4	NP_003265.3	P48553	TPC10_HUMAN			14	2332	+			719					Q3MIR2|Q86SI7|Q9UMD4|Q9Y4L3	Silent	SNP	ENST00000291574.4	37	c.2157T>C	CCDS13704.1																																																																																				0.572	TRAPPC10-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000195737.1	NM_003274		62	217	0	0	0	0.870114	0	62	217					C	45503102	T	C	45503102	2	2	71	1	0	0	0	0	0	0	0	1	16454	1538	54	4		4	TRAPPC10	21	45503102	Silent	SNP	T	TCGA-EJ-5525-01A-01D-1576-08	293480	45503102	2626793	75	3739											
MAP7D2	256714	broad.mit.edu	37	chrX	20033399	20033399	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taatctgttctctctcgagaCgcatctgttcagctacctcc	7	14	6	14	2	5	1	1	0	4	1	8	2	6	1	2	0	2	4	2	0	2	4			TCGA-EJ-5525-01A-01D-1576-08	TCGA-EJ-5525-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3953b74a-6ac2-443c-9c61-be6894c76d92	800eb17e-206d-461a-8dad-15d3a09dfb9a	g.chrX:20033399C>T	ENST00000379651.3	-	11	1586	c.1568G>A	c.(1567-1569)cGt>cAt	p.R523H	MIR23C_ENST00000579846.1_RNA|MAP7D2_ENST00000543767.1_Missense_Mutation_p.R408H|MAP7D2_ENST00000443379.3_Missense_Mutation_p.R478H|MAP7D2_ENST00000452324.3_Missense_Mutation_p.R471H|MAP7D2_ENST00000379643.5_Missense_Mutation_p.R564H	NM_152780.3	NP_689993.2	Q96T17	MA7D2_HUMAN	MAP7 domain containing 2	523					microtubule cytoskeleton organization (GO:0000226)	microtubule (GO:0005874)		p.R523H(2)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	37						TCTCTCGAGACGCATCTGTTC	0.463																																						ENST00000379651.3																			2	Substitution - Missense(2)	p.R523H(2)	prostate(2)	NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	37						c.(1567-1569)cGt>cAt		MAP7 domain containing 2							186	141	156					X																	20033399		2203	4300	6503	SO:0001583	missense	256714							g.chrX:20033399C>T	BC089400	CCDS14195.1, CCDS55384.1, CCDS55385.1, CCDS55386.1	Xp22.12	2008-02-05			ENSG00000184368	ENSG00000184368			25899	protein-coding gene	gene with protein product						12477932	Standard	NM_152780		Approved	FLJ14503	uc010nfo.2	Q96T17	OTTHUMG00000021228	ENST00000379651.3:c.1568G>A	X.37:g.20033399C>T	ENSP00000368972:p.Arg523His					MAP7D2_ENST00000543767.1_Missense_Mutation_p.R408H|MAP7D2_ENST00000452324.3_Missense_Mutation_p.R471H|MAP7D2_ENST00000443379.3_Missense_Mutation_p.R478H|MAP7D2_ENST00000379643.5_Missense_Mutation_p.R564H	p.R523H	NM_152780.3	NP_689993.2	Q96T17	MA7D2_HUMAN			11	1586	-			523					B7Z2J8|B7Z3S7|B9EGC7|C9JMA4|C9JYW0|Q5EBN1|Q5JPS7|Q6PIC7|Q8N792	Missense_Mutation	SNP	ENST00000379651.3	37	c.1568G>A	CCDS14195.1	.	.	.	.	.	.	.	.	.	.	C	16.69	3.194405	0.58017	.	.	ENSG00000184368	ENST00000379651;ENST00000379643;ENST00000543767;ENST00000443379;ENST00000544957;ENST00000452324	T;T;T;T;T	0.38077	1.16;1.16;1.16;1.16;1.16	5.6	4.74	0.60224	.	0.000000	0.64402	D	0.000002	T	0.66406	0.2786	M	0.89601	3.045	0.50039	D	0.999841	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;1.0;1.0;0.999;1.0	T	0.74044	-0.3791	10	0.87932	D	0	-2.9058	13.7633	0.62979	0.0:0.9242:0.0:0.0757	.	478;471;564;523;408	B7Z3S7;C9JYW0;Q96T17-2;Q96T17;F5GYC2	.;.;.;MA7D2_HUMAN;.	H	523;564;408;478;206;471	ENSP00000368972:R523H;ENSP00000368964:R564H;ENSP00000440691:R408H;ENSP00000388239:R478H;ENSP00000413301:R471H	ENSP00000368964:R564H	R	-	2	0	MAP7D2	19943320	1.000000	0.71417	1.000000	0.80357	0.309000	0.27889	3.918000	0.56432	1.138000	0.42230	-0.329000	0.08387	CGT		0.463	MAP7D2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000056001.1	NM_152780		104	21	0	0	0	0.870114	0	104	21					T	20033399	C	T	20033399	3	4	71	1	0	0	0	0	1	0	0	0	9268	536	19	1	650	1	MAP7D2	23	20033399	Missense_Mutation	SNP	C	TCGA-EJ-5525-01A-01D-1576-08		20033399	135237161	76	3740											
HDAC6	10013	broad.mit.edu	37	chrX	48673411	48673411	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagggttcgcccagctaaccCacctgctcatgggtctggca	7	8	11	15	1	2	0	1	0	1	0	3	0	2	0	3	3	3	4	3	3	1	2			TCGA-EJ-5525-01A-01D-1576-08	TCGA-EJ-5525-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3953b74a-6ac2-443c-9c61-be6894c76d92	800eb17e-206d-461a-8dad-15d3a09dfb9a	g.chrX:48673411C>T	ENST00000334136.5	+	14	1280	c.1102C>T	c.(1102-1104)Cac>Tac	p.H368Y	HDAC6_ENST00000376619.2_Missense_Mutation_p.H368Y|HDAC6_ENST00000444343.2_Missense_Mutation_p.H382Y			Q9UBN7	HDAC6_HUMAN	histone deacetylase 6	368	Histone deacetylase 1.				aggresome assembly (GO:0070842)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to misfolded protein (GO:0071218)|cellular response to topologically incorrect protein (GO:0035967)|histone deacetylation (GO:0016575)|Hsp90 deacetylation (GO:0070846)|intracellular protein transport (GO:0006886)|lysosome localization (GO:0032418)|macroautophagy (GO:0016236)|misfolded or incompletely synthesized protein catabolic process (GO:0006515)|negative regulation of hydrogen peroxide metabolic process (GO:0010727)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of oxidoreductase activity (GO:0051354)|negative regulation of protein complex disassembly (GO:0043242)|negative regulation of proteolysis (GO:0045861)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-lysine deacetylation (GO:0034983)|polyubiquitinated misfolded protein transport (GO:0070845)|positive regulation of chaperone-mediated protein complex assembly (GO:0090035)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of hydrogen peroxide-mediated programmed cell death (GO:1901300)|positive regulation of receptor biosynthetic process (GO:0010870)|positive regulation of signal transduction (GO:0009967)|protein complex disassembly (GO:0043241)|protein deacetylation (GO:0006476)|protein polyubiquitination (GO:0000209)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of establishment of protein localization (GO:0070201)|regulation of gene expression, epigenetic (GO:0040029)|regulation of microtubule-based movement (GO:0060632)|regulation of receptor activity (GO:0010469)|response to growth factor (GO:0070848)|response to misfolded protein (GO:0051788)|response to organic substance (GO:0010033)|response to toxic substance (GO:0009636)|transcription, DNA-templated (GO:0006351)|tubulin deacetylation (GO:0090042)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)	aggresome (GO:0016235)|axon (GO:0030424)|caveola (GO:0005901)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|dendrite (GO:0030425)|histone deacetylase complex (GO:0000118)|inclusion body (GO:0016234)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|nucleus (GO:0005634)|perikaryon (GO:0043204)|perinuclear region of cytoplasm (GO:0048471)	alpha-tubulin binding (GO:0043014)|beta-catenin binding (GO:0008013)|core promoter binding (GO:0001047)|dynein complex binding (GO:0070840)|enzyme binding (GO:0019899)|histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|Hsp90 protein binding (GO:0051879)|microtubule binding (GO:0008017)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|polyubiquitin binding (GO:0031593)|tau protein binding (GO:0048156)|tubulin deacetylase activity (GO:0042903)|zinc ion binding (GO:0008270)	p.H368Y(1)		breast(2)|endometrium(6)|kidney(5)|large_intestine(8)|lung(9)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	40					Vorinostat(DB02546)	CCAGCTAACCCACCTGCTCAT	0.642																																					Pancreas(112;205 1675 2305 8976 15959)	ENST00000334136.5																			1	Substitution - Missense(1)	p.H368Y(1)	prostate(1)	breast(2)|endometrium(6)|kidney(5)|large_intestine(8)|lung(9)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	40						c.(1102-1104)Cac>Tac		histone deacetylase 6	Vorinostat(DB02546)						27	24	25					X																	48673411		2201	4300	6501	SO:0001583	missense	10013				aggresome assembly|cellular response to hydrogen peroxide|Hsp90 deacetylation|lysosome localization|macroautophagy|misfolded or incompletely synthesized protein catabolic process|negative regulation of proteolysis|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|polyubiquitinated misfolded protein transport|positive regulation of apoptosis|positive regulation of cellular chaperone-mediated protein complex assembly|positive regulation of epithelial cell migration|positive regulation of receptor biosynthetic process|positive regulation of signal transduction|regulation of androgen receptor signaling pathway|regulation of receptor activity|response to growth factor stimulus|response to toxin|transcription, DNA-dependent|tubulin deacetylation	aggresome|caveola|cell leading edge|cytosol|histone deacetylase complex|microtubule associated complex|perinuclear region of cytoplasm	actin binding|alpha-tubulin binding|beta-catenin binding|dynein complex binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|Hsp90 protein binding|microtubule binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|polyubiquitin binding|tau protein binding|tubulin deacetylase activity|zinc ion binding	g.chrX:48673411C>T	AF132609	CCDS14306.1	Xp11.23	2014-06-12			ENSG00000094631	ENSG00000094631			14064	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 90"	300272				10220385, 10048485	Standard	NM_006044		Approved	KIAA0901, JM21, HD6, FLJ16239, PPP1R90	uc004dks.1	Q9UBN7	OTTHUMG00000034496	ENST00000334136.5:c.1102C>T	X.37:g.48673411C>T	ENSP00000334061:p.His368Tyr					HDAC6_ENST00000376619.2_Missense_Mutation_p.H368Y|HDAC6_ENST00000444343.2_Missense_Mutation_p.H382Y	p.H368Y			Q9UBN7	HDAC6_HUMAN			14	1280	+			368			Histone deacetylase 1.		O94975|Q6NT75|Q7L3E5|Q96CY0	Missense_Mutation	SNP	ENST00000334136.5	37	c.1102C>T	CCDS14306.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.133573	0.77662	.	.	ENSG00000094631	ENST00000444343;ENST00000334136;ENST00000376619;ENST00000436813	T;T;T	0.70282	-0.47;-0.47;-0.47	4.84	4.84	0.62591	Histone deacetylase domain (2);	0.063319	0.64402	D	0.000009	T	0.79452	0.4448	M	0.64567	1.98	0.80722	D	1	D;D	0.54047	0.964;0.964	P;P	0.59948	0.866;0.866	T	0.80654	-0.1286	10	0.52906	T	0.07	-20.8055	14.2428	0.65969	0.0:1.0:0.0:0.0	.	358;368	B4DZN1;Q9UBN7	.;HDAC6_HUMAN	Y	382;368;368;368	ENSP00000398566:H382Y;ENSP00000334061:H368Y;ENSP00000365804:H368Y	ENSP00000334061:H368Y	H	+	1	0	HDAC6	48558355	1.000000	0.71417	0.992000	0.48379	0.820000	0.46376	6.810000	0.75216	2.234000	0.73211	0.544000	0.68410	CAC		0.642	HDAC6-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000083394.2	NM_006044		7	6	0	0	0	0.38729	0	7	6					T	48673411	C	T	48673411	3	4	71	1	0	0	0	0	1	0	0	0	7011	594	21	3	1152	3	HDAC6	23	48673411	Missense_Mutation	SNP	C	TCGA-EJ-5525-01A-01D-1576-08	28640012	48673411	106597149	77	3741											
MTHFR	4524	broad.mit.edu	37	chr1	11855381	11855381	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccagcttggacagcttcaCaagctgccgaagggagtggt	9	8	13	11	1	1	0	1	0	0	0	2	3	2	2	2	3	4	3	2	3	2	2			TCGA-EJ-5526-01A-01D-1576-08	TCGA-EJ-5526-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28436e84-7985-4676-a36c-4b18f064db9a	764d600c-bbe7-4996-8f5d-4ec9a3adc6af	g.chr1:11855381C>T	ENST00000376592.1	-	5	933	c.805G>A	c.(805-807)Gtg>Atg	p.V269M	MTHFR_ENST00000376585.1_Missense_Mutation_p.V310M|MTHFR_ENST00000376583.3_Missense_Mutation_p.V310M|MTHFR_ENST00000376590.3_Missense_Mutation_p.V269M			P42898	MTHR_HUMAN	methylenetetrahydrofolate reductase (NAD(P)H)	269					blood circulation (GO:0008015)|cellular amino acid metabolic process (GO:0006520)|folic acid metabolic process (GO:0046655)|homocysteine metabolic process (GO:0050667)|methionine biosynthetic process (GO:0009086)|response to drug (GO:0042493)|response to folic acid (GO:0051593)|response to hypoxia (GO:0001666)|response to interleukin-1 (GO:0070555)|response to vitamin B2 (GO:0033274)|S-adenosylmethionine metabolic process (GO:0046500)|small molecule metabolic process (GO:0044281)|tetrahydrofolate interconversion (GO:0035999)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|neuron projection (GO:0043005)	flavin adenine dinucleotide binding (GO:0050660)|methylenetetrahydrofolate reductase (NAD(P)H) activity (GO:0004489)|modified amino acid binding (GO:0072341)|NADP binding (GO:0050661)	p.V269M(1)		NS(4)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	33	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00826)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649)	Benazepril(DB00542)|Cyanocobalamin(DB00115)|Fluorouracil(DB00544)|Folic Acid(DB00158)|L-Methionine(DB00134)|Menadione(DB00170)|Methotrexate(DB00563)|Riboflavin(DB00140)|Tetrahydrofolic acid(DB00116)	GACAGCTTCACAAGCTGCCGA	0.582																																						ENST00000376592.1																			1	Substitution - Missense(1)	p.V269M(1)	prostate(1)	NS(4)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	33						c.(805-807)Gtg>Atg		methylenetetrahydrofolate reductase (NAD(P)H)	Benazepril(DB00542)|Cyanocobalamin(DB00115)|Folic Acid(DB00158)|L-Methionine(DB00134)|Menadione(DB00170)|Methotrexate(DB00563)|Pyridoxal Phosphate(DB00114)|Pyridoxine(DB00165)|Raltitrexed(DB00293)|Riboflavin(DB00140)|S-Adenosylmethionine(DB00118)|Tetrahydrofolic acid(DB00116)						57	55	56					1																	11855381		2203	4300	6503	SO:0001583	missense	4524				blood circulation|folic acid metabolic process	cytosol	methylenetetrahydrofolate reductase (NADPH) activity|protein binding	g.chr1:11855381C>T	BC053509	CCDS137.1	1p36.3	2014-09-17	2010-05-04		ENSG00000177000	ENSG00000177000	1.5.1.20		7436	protein-coding gene	gene with protein product		607093	"5,10-methylenetetrahydrofolate reductase (NADPH)"			7920641	Standard	NM_005957		Approved		uc001atc.2	P42898	OTTHUMG00000002277	ENST00000376592.1:c.805G>A	1.37:g.11855381C>T	ENSP00000365777:p.Val269Met					MTHFR_ENST00000376583.3_Missense_Mutation_p.V310M|MTHFR_ENST00000376585.1_Missense_Mutation_p.V310M|MTHFR_ENST00000376590.3_Missense_Mutation_p.V269M	p.V269M			P42898	MTHR_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649)	5	933	-	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00826)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	269					B2R7A6|Q5SNW6|Q5SNW9|Q7Z6M6|Q8IU73|Q9UQR2	Missense_Mutation	SNP	ENST00000376592.1	37	c.805G>A	CCDS137.1	.	.	.	.	.	.	.	.	.	.	C	32	5.135827	0.94517	.	.	ENSG00000177000	ENST00000376592;ENST00000376583;ENST00000376590;ENST00000376585	D;D;D;D	0.91577	-2.87;-2.87;-2.87;-2.87	4.83	4.83	0.62350	.	0.000000	0.85682	D	0.000000	D	0.92714	0.7684	L	0.55017	1.72	0.80722	D	1	P;P	0.50710	0.851;0.938	P;P	0.55824	0.646;0.785	D	0.93552	0.6887	10	0.72032	D	0.01	.	17.2839	0.87136	0.0:1.0:0.0:0.0	.	269;310	P42898;Q5SNW6	MTHR_HUMAN;.	M	269;310;269;310	ENSP00000365777:V269M;ENSP00000365767:V310M;ENSP00000365775:V269M;ENSP00000365770:V310M	ENSP00000365767:V310M	V	-	1	0	MTHFR	11777968	1.000000	0.71417	0.971000	0.41717	0.995000	0.86356	5.405000	0.66351	2.385000	0.81259	0.561000	0.74099	GTG		0.582	MTHFR-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000006538.1	NM_005957		19	44	0	0	0	0.624587	0	19	44					T	11855381	C	T	11855381	3	4	72	1	0	0	0	0	1	0	0	0	9931	478	17	3	1193	3	MTHFR	1	11855381	Missense_Mutation	SNP	C	TCGA-EJ-5526-01A-01D-1576-08		11855381	237395240	1	3742											
PROX1	5629	broad.mit.edu	37	chr1	214171237	214171237	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctctgaccagtctgcctcCggccctgccgctggcggcca	3	8	11	19	3	2	1	0	1	2	0	4	1	4	1	7	3	2	1	7	3	0	0			TCGA-EJ-5526-01A-01D-1576-08	TCGA-EJ-5526-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28436e84-7985-4676-a36c-4b18f064db9a	764d600c-bbe7-4996-8f5d-4ec9a3adc6af	g.chr1:214171237C>T	ENST00000366958.4	+	2	1967	c.1359C>T	c.(1357-1359)tcC>tcT	p.S453S	PROX1_ENST00000498508.2_Silent_p.S453S|PROX1_ENST00000261454.4_Silent_p.S453S|PROX1_ENST00000435016.1_Silent_p.S453S	NM_001270616.1	NP_001257545.1	Q92786	PROX1_HUMAN	prospero homeobox 1	453					aorta smooth muscle tissue morphogenesis (GO:0060414)|atrial cardiac muscle tissue morphogenesis (GO:0055009)|brain development (GO:0007420)|cell fate determination (GO:0001709)|cerebellar granule cell differentiation (GO:0021707)|dentate gyrus development (GO:0021542)|dorsal spinal cord development (GO:0021516)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|endocardium formation (GO:0060214)|hepatocyte cell migration (GO:0002194)|hepatocyte differentiation (GO:0070365)|hepatocyte proliferation (GO:0072574)|kidney development (GO:0001822)|lens development in camera-type eye (GO:0002088)|lens fiber cell morphogenesis (GO:0070309)|liver development (GO:0001889)|lung development (GO:0030324)|lymphangiogenesis (GO:0001946)|lymphatic endothelial cell differentiation (GO:0060836)|negative regulation of bile acid biosynthetic process (GO:0070858)|negative regulation of cell proliferation (GO:0008285)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of viral genome replication (GO:0045071)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|olfactory placode formation (GO:0030910)|optic placode formation involved in camera-type eye formation (GO:0046619)|otic placode formation (GO:0043049)|pancreas development (GO:0031016)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell cycle checkpoint (GO:1901978)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045737)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of forebrain neuron differentiation (GO:2000979)|positive regulation of heart growth (GO:0060421)|positive regulation of neural precursor cell proliferation (GO:2000179)|positive regulation of sarcomere organization (GO:0060298)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of circadian rhythm (GO:0042752)|regulation of gene expression (GO:0010468)|regulation of transcription involved in lymphatic endothelial cell fate commitment (GO:0060849)|response to nutrient levels (GO:0031667)|retina morphogenesis in camera-type eye (GO:0060042)|skeletal muscle thin filament assembly (GO:0030240)|venous blood vessel morphogenesis (GO:0048845)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|ventricular cardiac myofibril assembly (GO:0055005)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|DBD domain binding (GO:0050692)|DNA binding (GO:0003677)|LBD domain binding (GO:0050693)|ligand-dependent nuclear receptor binding (GO:0016922)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)	p.S453S(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|prostate(2)|skin(4)	47				OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219)		AGTCTGCCTCCGGCCCTGCCG	0.647																																						ENST00000366958.4																			1	Substitution - coding silent(1)	p.S453S(1)	prostate(1)	autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|prostate(2)|skin(4)	47						c.(1357-1359)tcC>tcT		prospero homeobox 1							60	72	68					1																	214171237		2203	4300	6503	SO:0001819	synonymous_variant	5629				aorta smooth muscle tissue morphogenesis|atrial cardiac muscle tissue morphogenesis|brain development|dorsal spinal cord development|embryonic retina morphogenesis in camera-type eye|endocardium formation|hepatocyte differentiation|kidney development|lens fiber cell morphogenesis|lung development|lymphangiogenesis|negative regulation of bile acid biosynthetic process|negative regulation of cell proliferation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of viral genome replication|neural tube development|olfactory placode formation|optic placode formation involved in camera-type eye formation|otic placode formation|pancreas development|positive regulation of cyclin-dependent protein kinase activity|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of heart growth|positive regulation of S phase of mitotic cell cycle|positive regulation of sarcomere organization|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment|skeletal muscle thin filament assembly|venous blood vessel morphogenesis|ventricular cardiac muscle tissue morphogenesis|ventricular cardiac myofibril development|ventricular septum morphogenesis	cytoplasm|nucleus	DBD domain binding|LBD domain binding|ligand-dependent nuclear receptor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding	g.chr1:214171237C>T	U44060	CCDS31021.1	1q41	2011-06-20	2007-06-01		ENSG00000117707	ENSG00000117707		"Homeoboxes / PROS class"	9459	protein-coding gene	gene with protein product		601546	"prospero-related homeobox 1"			8812486	Standard	NM_002763		Approved		uc001hkg.2	Q92786	OTTHUMG00000036946	ENST00000366958.4:c.1359C>T	1.37:g.214171237C>T						PROX1_ENST00000261454.4_Silent_p.S453S|PROX1_ENST00000498508.2_Silent_p.S453S|PROX1_ENST00000435016.1_Silent_p.S453S	p.S453S	NM_001270616.1	NP_001257545.1	Q92786	PROX1_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219)	2	1967	+			453					A6NK29|A8K2B1|Q5SW76|Q8TB91	Silent	SNP	ENST00000366958.4	37	c.1359C>T	CCDS31021.1																																																																																				0.647	PROX1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089727.6	NM_002763		27	85	0	0	0	0.788014	0	27	85					T	214171237	C	T	214171237	2	4	72	1	0	0	0	0	0	0	0	1	12560	639	23	2		2	PROX1	1	214171237	Silent	SNP	C	TCGA-EJ-5526-01A-01D-1576-08	202315856	214171237	35079384	2	3743											
USH2A	7399	broad.mit.edu	37	chr1	215848631	215848631	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgtgaaaacaattttctcgtCggcctggattgtctgatttc	8	16	9	8	2	2	2	0	2	2	0	5	3	2	3	1	2	1	0	1	2	3	4	rs529589990		TCGA-EJ-5526-01A-01D-1576-08	TCGA-EJ-5526-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28436e84-7985-4676-a36c-4b18f064db9a	764d600c-bbe7-4996-8f5d-4ec9a3adc6af	g.chr1:215848631C>T	ENST00000307340.3	-	63	13008	c.12622G>A	c.(12622-12624)Gac>Aac	p.D4208N	USH2A_ENST00000366943.2_Missense_Mutation_p.D4208N	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	4208	Fibronectin type-III 27. {ECO:0000255|PROSITE-ProRule:PRU00316}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)	p.D4208N(1)		NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		ATTTTCTCGTCGGCCTGGATT	0.393										HNSCC(13;0.011)			C|||	1	0.000199681	0	0	5008	,	,		21149	0		0	False		,,,				2504	0.001					ENST00000366943.2																			1	Substitution - Missense(1)	p.D4208N(1)	prostate(1)	NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527						c.(12622-12624)Gac>Aac		Usher syndrome 2A (autosomal recessive, mild)							118	118	118					1																	215848631		2203	4300	6503	SO:0001583	missense	7399				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	g.chr1:215848631C>T	AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"Fibronectin type III domain containing"	12601	protein-coding gene	gene with protein product	"usherin"	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.12622G>A	1.37:g.215848631C>T	ENSP00000305941:p.Asp4208Asn	HNSCC(13;0.011)				USH2A_ENST00000307340.3_Missense_Mutation_p.D4208N	p.D4208N			O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	63	13008	-			4208			Fibronectin type-III 27.		Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	c.12622G>A	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	C	3.358	-0.131034	0.06753	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	D;T	0.84589	-1.87;2.49	5.25	1.37	0.22104	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.293134	0.23770	N	0.044724	T	0.76877	0.4049	L	0.43923	1.385	0.09310	N	0.999998	B	0.22211	0.066	B	0.20184	0.028	T	0.63065	-0.6720	10	0.37606	T	0.19	.	8.6272	0.33897	0.0:0.6412:0.0:0.3588	.	4208	O75445	USH2A_HUMAN	N	4208	ENSP00000305941:D4208N;ENSP00000355910:D4208N	ENSP00000305941:D4208N	D	-	1	0	USH2A	213915254	0.000000	0.05858	0.000000	0.03702	0.156000	0.22039	0.053000	0.14184	0.007000	0.14760	-0.133000	0.14855	GAC		0.393	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		44	126	0	0	0	0.870114	0	44	126					T	215848631	C	T	215848631	3	4	72	1	0	0	0	0	1	0	0	0	17033	884	31	2	3026	2	USH2A	1	215848631	Missense_Mutation	SNP	C	TCGA-EJ-5526-01A-01D-1576-08	1677394	215848631	33401990	3	3744											
LRRTM4	80059	broad.mit.edu	37	chr2	76975914	76975914	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cggcccagctccaggccgggGctttcgtcctgctctggaga	4	8	14	15	3	1	1	0	0	1	1	4	2	3	1	4	5	2	3	4	5	0	1			TCGA-EJ-5526-01A-01D-1576-08	TCGA-EJ-5526-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28436e84-7985-4676-a36c-4b18f064db9a	764d600c-bbe7-4996-8f5d-4ec9a3adc6af	g.chr2:76975914G>A	ENST00000409093.1	-	4	2016	c.1680C>T	c.(1678-1680)agC>agT	p.S560S	LRRTM4_ENST00000409884.1_Silent_p.S560S|LRRTM4_ENST00000409911.1_Silent_p.S561S			Q86VH4	LRRT4_HUMAN	leucine rich repeat transmembrane neuronal 4	560					alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor clustering (GO:0097113)|regulation of presynaptic membrane organization (GO:1901629)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)		p.S560S(1)		autonomic_ganglia(1)|endometrium(1)|large_intestine(6)|lung(49)|ovary(2)|pancreas(3)|prostate(1)|upper_aerodigestive_tract(1)	64				Colorectal(11;0.059)		CCAGGCCGGGGCTTTCGTCCT	0.587																																						ENST00000409911.1																			1	Substitution - coding silent(1)	p.S560S(1)	prostate(1)	autonomic_ganglia(1)|endometrium(1)|large_intestine(6)|lung(49)|ovary(2)|pancreas(3)|prostate(1)|upper_aerodigestive_tract(1)	64						c.(1681-1683)agC>agT		leucine rich repeat transmembrane neuronal 4							115	108	110					2																	76975914		1568	3582	5150	SO:0001819	synonymous_variant	80059					integral to membrane		g.chr2:76975914G>A	AK122612	CCDS46346.1, CCDS46347.1, CCDS74530.1	2p12	2008-02-05			ENSG00000176204	ENSG00000176204			19411	protein-coding gene	gene with protein product		610870				12676565	Standard	NM_024993		Approved	FLJ12568	uc002snr.3	Q86VH4	OTTHUMG00000152842	ENST00000409093.1:c.1680C>T	2.37:g.76975914G>A						LRRTM4_ENST00000409093.1_Silent_p.S560S|LRRTM4_ENST00000409884.1_Silent_p.S560S	p.S561S	NM_001134745.1	NP_001128217.1	Q86VH4	LRRT4_HUMAN		Colorectal(11;0.059)	3	1906	-			560					Q4FZ98|Q6UXJ7	Silent	SNP	ENST00000409093.1	37	c.1683C>T	CCDS46346.1																																																																																				0.587	LRRTM4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000328225.1	NM_024993		54	165	0	0	0	0.870114	0	54	165					A	76975914	G	A	76975914	2	1	72	1	0	0	0	0	0	0	0	1	9042	1194	42	3		3	LRRTM4	2	76975914	Silent	SNP	G	TCGA-EJ-5526-01A-01D-1576-08		76975914	166223459	4	3745											
PTCD3	55037	broad.mit.edu	37	chr2	86360495	86360495	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tttccccactcccaaacaatGatacatcttctccaagcatt	12	12	2	15	0	2	1	0	1	2	0	5	1	4	1	4	0	3	1	4	0	4	4	rs369504418		TCGA-EJ-5526-01A-01D-1576-08	TCGA-EJ-5526-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28436e84-7985-4676-a36c-4b18f064db9a	764d600c-bbe7-4996-8f5d-4ec9a3adc6af	g.chr2:86360495G>A	ENST00000254630.7	+	19	1545	c.1479G>A	c.(1477-1479)atG>atA	p.M493I	SNORD94_ENST00000386037.1_RNA	NM_017952.5	NP_060422.4	Q96EY7	PTCD3_HUMAN	pentatricopeptide repeat domain 3	493					mitochondrial translation (GO:0032543)|regulation of translation (GO:0006417)	mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|ribosomal small subunit binding (GO:0043024)|rRNA binding (GO:0019843)	p.M493I(1)		NS(1)|breast(2)|endometrium(3)|kidney(4)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)	22						CCCAAACAATGATACATCTTC	0.373																																						ENST00000254630.7																			1	Substitution - Missense(1)	p.M493I(1)	prostate(1)	NS(1)|breast(2)|endometrium(3)|kidney(4)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)	22						c.(1477-1479)atG>atA		pentatricopeptide repeat domain 3							198	192	194					2																	86360495		2203	4300	6503	SO:0001583	missense	55037					mitochondrion	protein binding	g.chr2:86360495G>A		CCDS33235.1	2p11.2	2014-02-12	2012-02-24		ENSG00000132300	ENSG00000132300			24717	protein-coding gene	gene with protein product		614918				8889548	Standard	NM_017952		Approved	FLJ20758, DKFZp666K071	uc002sqw.2	Q96EY7	OTTHUMG00000153168	ENST00000254630.7:c.1479G>A	2.37:g.86360495G>A	ENSP00000254630:p.Met493Ile						p.M493I	NM_017952.5	NP_060422.4	Q96EY7	PTCD3_HUMAN			19	1545	+			493					A6NHD2|D6W5M1|Q597H0|Q658Y9|Q9BUZ8|Q9NWL0	Missense_Mutation	SNP	ENST00000254630.7	37	c.1479G>A	CCDS33235.1	.	.	.	.	.	.	.	.	.	.	G	11.04	1.521508	0.27211	.	.	ENSG00000132300	ENST00000254630	T	0.31769	1.48	5.88	0.37	0.16160	.	0.428043	0.27105	N	0.020905	T	0.13756	0.0333	N	0.12746	0.255	0.80722	D	1	B;B	0.06786	0.001;0.001	B;B	0.08055	0.003;0.001	T	0.05989	-1.0852	10	0.46703	T	0.11	-2.0956	5.0829	0.14666	0.1307:0.2934:0.4755:0.1004	.	84;493	Q96EY7-2;Q96EY7	.;PTCD3_HUMAN	I	493	ENSP00000254630:M493I	ENSP00000254630:M493I	M	+	3	0	PTCD3	86214006	0.998000	0.40836	0.983000	0.44433	0.971000	0.66376	0.853000	0.27777	0.386000	0.24997	-0.140000	0.14226	ATG		0.373	PTCD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329854.1	NM_017952		16	309	0	0	0	0.520397	0	16	309					A	86360495	G	A	86360495	3	1	72	1	0	0	0	0	1	0	0	0	12729	1290	45	3	1553	3	PTCD3	2	86360495	Missense_Mutation	SNP	G	TCGA-EJ-5526-01A-01D-1576-08	9384581	86360495	156838878	5	3746											
EFHB	151651	broad.mit.edu	37	chr3	19924217	19924217	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tggttggaacaccacaaatgGggtaacctaggtcattgatg	12	10	12	7	0	1	1	1	1	0	0	1	2	1	2	2	5	2	2	2	5	4	4			TCGA-EJ-5526-01A-01D-1576-08	TCGA-EJ-5526-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28436e84-7985-4676-a36c-4b18f064db9a	764d600c-bbe7-4996-8f5d-4ec9a3adc6af	g.chr3:19924217G>C	ENST00000295824.9	-	12	2314	c.2153C>G	c.(2152-2154)cCc>cGc	p.P718R	EFHB_ENST00000344838.4_Missense_Mutation_p.P588R	NM_144715.3	NP_653316.3	Q8N7U6	EFHB_HUMAN	EF-hand domain family, member B	718							calcium ion binding (GO:0005509)	p.P718R(2)|p.P716R(1)		breast(2)|endometrium(4)|kidney(1)|lung(17)|prostate(1)|urinary_tract(1)	26						ACCACAAATGGGGTAACCTAG	0.428																																						ENST00000295824.9																			3	Substitution - Missense(3)	p.P718R(2)|p.P716R(1)	prostate(3)	breast(2)|endometrium(4)|kidney(1)|lung(17)|prostate(1)|urinary_tract(1)	26						c.(2152-2154)cCc>cGc		EF-hand domain family, member B							91	76	81					3																	19924217		2203	4300	6503	SO:0001583	missense	151651				signal transduction	proteinaceous extracellular matrix	calcium ion binding	g.chr3:19924217G>C	AK122616	CCDS33715.2	3p24.3	2014-07-18			ENSG00000163576	ENSG00000163576		"EF-hand domain containing"	26330	protein-coding gene	gene with protein product	"cilia and flagella associated protein 21"					12477932	Standard	NM_144715		Approved	FLJ25200, CFAP21	uc003cbl.4	Q8N7U6	OTTHUMG00000150505	ENST00000295824.9:c.2153C>G	3.37:g.19924217G>C	ENSP00000295824:p.Pro718Arg					EFHB_ENST00000344838.4_Missense_Mutation_p.P588R	p.P718R	NM_144715.3	NP_653316.3	Q8N7U6	EFHB_HUMAN			12	2314	-			718					A6ND25|A8MPR3|Q6ZWK9|Q8IV58|Q96LQ6	Missense_Mutation	SNP	ENST00000295824.9	37	c.2153C>G	CCDS33715.2	.	.	.	.	.	.	.	.	.	.	G	2.183	-0.387122	0.04932	.	.	ENSG00000163576	ENST00000295824;ENST00000344838	T;T	0.22134	1.97;2.03	5.54	5.54	0.83059	.	0.264206	0.38548	N	0.001644	T	0.25568	0.0622	N	0.25992	0.78	0.35804	D	0.823339	P;B	0.50528	0.936;0.07	P;B	0.53401	0.725;0.019	T	0.07102	-1.0790	9	.	.	.	-10.6457	15.3446	0.74327	0.0:0.1391:0.8609:0.0	.	588;718	Q8N7U6-3;Q8N7U6	.;EFHB_HUMAN	R	718;588	ENSP00000295824:P718R;ENSP00000342263:P588R	.	P	-	2	0	EFHB	19899221	0.998000	0.40836	0.911000	0.35937	0.085000	0.17905	2.809000	0.47971	2.768000	0.95171	0.650000	0.86243	CCC		0.428	EFHB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318673.2	NM_144715		11	31	0	0	0	0.361761	0	11	31					C	19924217	G	C	19924217	3	2	72	1	0	0	0	0	1	0	0	0	4945	1232	43	5	356	5	EFHB	3	19924217	Missense_Mutation	SNP	G	TCGA-EJ-5526-01A-01D-1576-08		19924217	178098213	6	3747											
BSN	8927	broad.mit.edu	37	chr3	49698154	49698154	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcatgagtccaccaaactgcGcaagaagcaggcagagctgg	13	4	13	11	1	0	3	0	1	0	2	1	3	1	3	2	2	4	5	2	2	3	0			TCGA-EJ-5526-01A-01D-1576-08	TCGA-EJ-5526-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28436e84-7985-4676-a36c-4b18f064db9a	764d600c-bbe7-4996-8f5d-4ec9a3adc6af	g.chr3:49698154G>A	ENST00000296452.4	+	6	8990	c.8876G>A	c.(8875-8877)cGc>cAc	p.R2959H		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	2959					synaptic transmission (GO:0007268)	axon (GO:0030424)|cell junction (GO:0030054)|dendrite (GO:0030425)|neuron projection terminus (GO:0044306)|nucleus (GO:0005634)|presynaptic cytoskeletal matrix assembled at active zones (GO:0048788)	metal ion binding (GO:0046872)	p.R2959H(1)		breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		ACCAAACTGCGCAAGAAGCAG	0.602																																						ENST00000296452.4																			1	Substitution - Missense(1)	p.R2959H(1)	prostate(1)	breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106						c.(8875-8877)cGc>cAc		bassoon presynaptic cytomatrix protein							29	29	29					3																	49698154		2203	4300	6503	SO:0001583	missense	8927				synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding	g.chr3:49698154G>A	AF052224	CCDS2800.1	3p21	2013-01-07	2013-01-07		ENSG00000164061	ENSG00000164061			1117	protein-coding gene	gene with protein product	"zinc finger protein 231", "neuronal double zinc finger protein"	604020	"bassoon (presynaptic cytomatrix protein)"	ZNF231		9806829, 10329005	Standard	NM_003458		Approved		uc003cxe.4	Q9UPA5	OTTHUMG00000133750	ENST00000296452.4:c.8876G>A	3.37:g.49698154G>A	ENSP00000296452:p.Arg2959His						p.R2959H	NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN		BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)	6	8990	+			2959					O43161|Q7LGH3	Missense_Mutation	SNP	ENST00000296452.4	37	c.8876G>A	CCDS2800.1	.	.	.	.	.	.	.	.	.	.	G	15.37	2.813606	0.50527	.	.	ENSG00000164061	ENST00000296452	T	0.50548	0.74	4.4	4.4	0.53042	.	0.000000	0.85682	D	0.000000	T	0.68339	0.2990	M	0.71206	2.165	0.58432	D	0.999997	D	0.89917	1.0	D	0.85130	0.997	T	0.74016	-0.3800	10	0.87932	D	0	-12.2497	16.995	0.86365	0.0:0.0:1.0:0.0	.	2959	Q9UPA5	BSN_HUMAN	H	2959	ENSP00000296452:R2959H	ENSP00000296452:R2959H	R	+	2	0	BSN	49673158	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	9.818000	0.99354	1.985000	0.57927	0.561000	0.74099	CGC		0.602	BSN-001	KNOWN	NMD_exception|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000258164.1	NM_003458		4	31	0	0	0	0.150653	0	4	31					A	49698154	G	A	49698154	3	1	72	1	0	0	0	0	1	0	0	0	1530	1087	38	1	8898	1	BSN	3	49698154	Missense_Mutation	SNP	G	TCGA-EJ-5526-01A-01D-1576-08	29773937	49698154	148324276	7	3748											
SSR3	6747	broad.mit.edu	37	chr3	156266713	156266713	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cctttcatctttctccttccGagacatctttctattatcag	7	18	3	13	1	6	1	2	0	4	1	8	2	7	1	3	0	0	0	3	0	2	6			TCGA-EJ-5526-01A-01D-1576-08	TCGA-EJ-5526-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28436e84-7985-4676-a36c-4b18f064db9a	764d600c-bbe7-4996-8f5d-4ec9a3adc6af	g.chr3:156266713G>A	ENST00000265044.2	-	3	434	c.340C>T	c.(340-342)Cgg>Tgg	p.R114W	SSR3_ENST00000478842.1_5'UTR|SSR3_ENST00000463503.1_Missense_Mutation_p.R62W|SSR3_ENST00000496050.1_Missense_Mutation_p.R62W|SSR3_ENST00000467789.1_Missense_Mutation_p.R114W|SSR3_ENST00000476217.1_Missense_Mutation_p.R114W	NM_007107.3	NP_009038.1	Q9UNL2	SSRG_HUMAN	signal sequence receptor, gamma (translocon-associated protein gamma)	114					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	integral component of endoplasmic reticulum membrane (GO:0030176)|Sec61 translocon complex (GO:0005784)		p.R114W(1)		endometrium(1)|prostate(2)	3			LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)			TTCTCCTTCCGAGACATCTTT	0.363																																						ENST00000265044.2																			1	Substitution - Missense(1)	p.R114W(1)	prostate(1)	endometrium(1)|prostate(2)	3						c.(340-342)Cgg>Tgg		signal sequence receptor, gamma (translocon-associated protein gamma)							90	88	89					3																	156266713		2203	4300	6503	SO:0001583	missense	6747				cotranslational protein targeting to membrane	integral to endoplasmic reticulum membrane|microsome|Sec61 translocon complex	protein binding|signal sequence binding	g.chr3:156266713G>A	BC017203	CCDS3176.1	3q25.31	2004-02-27			ENSG00000114850	ENSG00000114850			11325	protein-coding gene	gene with protein product		606213					Standard	NM_007107		Approved	TRAPG	uc003fau.3	Q9UNL2	OTTHUMG00000158632	ENST00000265044.2:c.340C>T	3.37:g.156266713G>A	ENSP00000265044:p.Arg114Trp					SSR3_ENST00000496050.1_Missense_Mutation_p.R62W|SSR3_ENST00000478842.1_5'UTR|SSR3_ENST00000467789.1_Missense_Mutation_p.R114W|SSR3_ENST00000463503.1_Missense_Mutation_p.R62W|SSR3_ENST00000476217.1_Missense_Mutation_p.R114W	p.R114W	NM_007107.3	NP_009038.1	Q9UNL2	SSRG_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)		3	434	-			114					B2R7D0|B4E2P2|D3DNK5|Q549M4	Missense_Mutation	SNP	ENST00000265044.2	37	c.340C>T	CCDS3176.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.980214	0.74474	.	.	ENSG00000114850	ENST00000265044;ENST00000467789;ENST00000476217;ENST00000463503;ENST00000496050	.	.	.	5.41	4.53	0.55603	.	0.116472	0.64402	D	0.000018	T	0.72407	0.3456	M	0.73962	2.25	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79108	0.992;0.983	T	0.74847	-0.3525	9	0.87932	D	0	-11.8151	9.1524	0.36971	0.0736:0.0:0.7808:0.1456	.	114;114	B4E2P2;Q9UNL2	.;SSRG_HUMAN	W	114;114;114;62;62	.	ENSP00000265044:R114W	R	-	1	2	SSR3	157749407	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.299000	0.72770	1.407000	0.46875	0.650000	0.86243	CGG		0.363	SSR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351521.1	NM_007107		24	82	0	0	0	0.654019	0	24	82					A	156266713	G	A	156266713	3	1	72	1	0	0	0	0	1	0	0	0	15191	1057	37	2	229	2	SSR3	3	156266713	Missense_Mutation	SNP	G	TCGA-EJ-5526-01A-01D-1576-08	106568559	156266713	41755717	8	3749											
PIK3CA	5290	broad.mit.edu	37	chr3	178927980	178927980	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttgttttttaaggaacacTgtccattggcatggggaaat	10	15	10	6	0	0	0	0	0	0	0	1	2	1	2	1	4	1	2	1	4	3	5	rs121913272		TCGA-EJ-5526-01A-01D-1576-08	TCGA-EJ-5526-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28436e84-7985-4676-a36c-4b18f064db9a	764d600c-bbe7-4996-8f5d-4ec9a3adc6af	g.chr3:178927980T>C	ENST00000263967.3	+	8	1415	c.1258T>C	c.(1258-1260)Tgt>Cgt	p.C420R		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	420	C2 PI3K-type. {ECO:0000255|PROSITE- ProRule:PRU00880}.		C -> R (in CLOVE and CRC; shows an increase in lipid kinase activity; may increase the affinity for lipid membranes). {ECO:0000269|PubMed:22658544}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.C420R(40)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	TAAGGAACACTGTCCATTGGC	0.328	C420R(CCK81_LARGE_INTESTINE)|C420R(EFM192A_BREAST)|C420R(HEC151_ENDOMETRIUM)|C420R(OVISE_OVARY)	57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	ENST00000263967.3	C420R(CCK81_LARGE_INTESTINE)|C420R(EFM192A_BREAST)|C420R(HEC151_ENDOMETRIUM)|C420R(OVISE_OVARY)	57		Dom	yes		3	3q26.3	5290	Mis	"phosphoinositide-3-kinase, catalytic, alpha polypeptide"			"E, O"			"colorectal, gastric, gliobastoma, breast"		40	Substitution - Missense(40)	p.C420R(40)	breast(15)|large_intestine(10)|endometrium(7)|central_nervous_system(2)|lung(2)|prostate(2)|stomach(1)|NS(1)	NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269						c.(1258-1260)Tgt>Cgt		phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha							85	80	82					3																	178927980		1822	4078	5900	SO:0001583	missense	5290				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	g.chr3:178927980T>C		CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"phosphoinositide-3-kinase, catalytic, alpha polypeptide"			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.1258T>C	3.37:g.178927980T>C	ENSP00000263967:p.Cys420Arg	HNSCC(19;0.045)|TSP Lung(28;0.18)					p.C420R	NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		8	1415	+	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		420		C -> R (in cancer; shows an increase in lipid kinase activity; may increase the affinity for lipid membranes).	C2 PI3K-type.		Q14CW1|Q99762	Missense_Mutation	SNP	ENST00000263967.3	37	c.1258T>C	CCDS43171.1	.	.	.	.	.	.	.	.	.	.	T	19.97	3.925687	0.73213	.	.	ENSG00000121879	ENST00000263967	T	0.68903	-0.36	5.51	5.51	0.81932	C2 calcium-dependent membrane targeting (1);C2 calcium/lipid-binding domain, CaLB (1);Phosphoinositide 3-kinase, C2 (2);	0.000000	0.85682	D	0.000000	T	0.76856	0.4046	M	0.61703	1.905	0.80722	D	1	D	0.69078	0.997	P	0.62885	0.908	T	0.74284	-0.3715	10	0.25751	T	0.34	-11.2314	15.6207	0.76805	0.0:0.0:0.0:1.0	.	420	P42336	PK3CA_HUMAN	R	420	ENSP00000263967:C420R	ENSP00000263967:C420R	C	+	1	0	PIK3CA	180410674	1.000000	0.71417	0.998000	0.56505	0.977000	0.68977	7.698000	0.84413	2.105000	0.64084	0.460000	0.39030	TGT		0.328	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2			5	205	0	0	0	0.217242	0	5	205					C	178927980	T	C	178927980	3	2	72	1	0	0	0	0	1	0	0	0	11913	1580	55	4	1284	4	PIK3CA	3	178927980	Missense_Mutation	SNP	T	TCGA-EJ-5526-01A-01D-1576-08	22661267	178927980	19094450	9	3750											
C1QTNF7	114905	broad.mit.edu	37	chr4	15444073	15444073	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttaacaaggtcctcttcaacGagggagagcactacaaccct	13	8	8	12	1	2	1	1	0	1	1	3	3	3	1	2	2	5	1	2	2	5	3	rs563271263		TCGA-EJ-5526-01A-01D-1576-08	TCGA-EJ-5526-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28436e84-7985-4676-a36c-4b18f064db9a	764d600c-bbe7-4996-8f5d-4ec9a3adc6af	g.chr4:15444073G>A	ENST00000444304.2	+	3	846	c.520G>A	c.(520-522)Gag>Aag	p.E174K	C1QTNF7_ENST00000429690.1_Missense_Mutation_p.E174K|C1QTNF7_ENST00000295297.4_Missense_Mutation_p.E181K			Q9BXJ2	C1QT7_HUMAN	C1q and tumor necrosis factor related protein 7	174	C1q. {ECO:0000255|PROSITE- ProRule:PRU00368}.				protein homooligomerization (GO:0051260)	collagen trimer (GO:0005581)|extracellular space (GO:0005615)		p.E174Q(1)|p.E174K(1)		endometrium(5)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|stomach(1)	16						CCTCTTCAACGAGGGAGAGCA	0.443													G|||	1	0.000199681	8e-04	0	5008	,	,		20062	0		0	False		,,,				2504	0					ENST00000295297.4																			2	Substitution - Missense(2)	p.E174Q(1)|p.E174K(1)	prostate(1)|lung(1)	endometrium(5)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|stomach(1)	16						c.(541-543)Gag>Aag		C1q and tumor necrosis factor related protein 7							160	176	170					4																	15444073		2203	4300	6503	SO:0001583	missense	114905					collagen		g.chr4:15444073G>A	AF329839	CCDS3414.1, CCDS47025.1	4p15.3	2008-08-29			ENSG00000163145	ENSG00000163145			14342	protein-coding gene	gene with protein product							Standard	NM_001135170		Approved	CTRP7	uc003gnp.3	Q9BXJ2	OTTHUMG00000097095	ENST00000444304.2:c.520G>A	4.37:g.15444073G>A	ENSP00000388914:p.Glu174Lys					C1QTNF7_ENST00000429690.1_Missense_Mutation_p.E174K|C1QTNF7_ENST00000444304.2_Missense_Mutation_p.E174K	p.E181K	NM_001135170.1	NP_001128642.1	Q9BXJ2	C1QT7_HUMAN			3	800	+			174			C1q.		B2RBT3|J3KPW3	Missense_Mutation	SNP	ENST00000444304.2	37	c.541G>A	CCDS3414.1	.	.	.	.	.	.	.	.	.	.	G	29.9	5.048379	0.93740	.	.	ENSG00000163145	ENST00000295297;ENST00000429690;ENST00000444304	D;D;D	0.85861	-2.04;-2.04;-2.04	5.8	5.8	0.92144	Tumour necrosis factor-like (2);Complement C1q protein (4);	0.054356	0.64402	D	0.000001	D	0.88633	0.6489	M	0.62209	1.925	0.80722	D	1	D	0.61080	0.989	P	0.51833	0.681	D	0.87327	0.2322	9	.	.	.	.	20.0545	0.97645	0.0:0.0:1.0:0.0	.	174	Q9BXJ2	C1QT7_HUMAN	K	181;174;174	ENSP00000295297:E181K;ENSP00000410722:E174K;ENSP00000388914:E174K	.	E	+	1	0	C1QTNF7	15053171	1.000000	0.71417	0.997000	0.53966	0.990000	0.78478	9.830000	0.99415	2.748000	0.94277	0.655000	0.94253	GAG		0.443	C1QTNF7-002	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000250891.2			15	486	0	0	0	0.457914	0	15	486					A	15444073	G	A	15444073	3	1	72	1	0	0	0	0	1	0	0	0	1968	1059	37	2	551	2	C1QTNF7	4	15444073	Missense_Mutation	SNP	G	TCGA-EJ-5526-01A-01D-1576-08		15444073	175710203	10	3751											
IL6ST	3572	broad.mit.edu	37	chr5	55250760	55250772	+	Frame_Shift_Del	DEL	CATTCCACCCAAA	CATTCCACCCAAA	-																															cagattcccttggagtagtcCattccacccaaagcatgtta																										TCGA-EJ-5526-01A-01D-1576-08	TCGA-EJ-5526-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28436e84-7985-4676-a36c-4b18f064db9a	764d600c-bbe7-4996-8f5d-4ec9a3adc6af	g.chr5:55250760_55250772delCATTCCACCCAAA	ENST00000381298.2	-	11	1628_1640	c.1316_1328delTTTGGGTGGAATG	c.(1315-1329)ctttgggtggaatggfs	p.LWVEW439fs	IL6ST_ENST00000536319.1_Intron|IL6ST_ENST00000522633.2_3'UTR|IL6ST_ENST00000336909.5_Frame_Shift_Del_p.LWVEW439fs|IL6ST_ENST00000502326.3_Frame_Shift_Del_p.LWVEW439fs|IL6ST_ENST00000381287.4_3'UTR|IL6ST_ENST00000381293.2_Intron|IL6ST_ENST00000381294.3_Intron|IL6ST_ENST00000381286.3_Intron	NM_001190981.1|NM_002184.3|NM_175767.2	NP_001177910.1|NP_002175.2|NP_786943.1	P40189	IL6RB_HUMAN	interleukin 6 signal transducer	439	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				ciliary neurotrophic factor-mediated signaling pathway (GO:0070120)|cytokine-mediated signaling pathway (GO:0019221)|glycogen metabolic process (GO:0005977)|interleukin-27-mediated signaling pathway (GO:0070106)|interleukin-6-mediated signaling pathway (GO:0070102)|leukemia inhibitory factor signaling pathway (GO:0048861)|negative regulation of apoptotic process (GO:0043066)|negative regulation of interleukin-6-mediated signaling pathway (GO:0070104)|oncostatin-M-mediated signaling pathway (GO:0038165)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of adaptive immune response (GO:0002821)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|positive regulation of cell proliferation (GO:0008284)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of Notch signaling pathway (GO:0008593)|response to cytokine (GO:0034097)|viral process (GO:0016032)	ciliary neurotrophic factor receptor complex (GO:0070110)|dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|interleukin-6 receptor complex (GO:0005896)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|oncostatin-M receptor complex (GO:0005900)|plasma membrane (GO:0005886)	ciliary neurotrophic factor receptor activity (GO:0004897)|ciliary neurotrophic factor receptor binding (GO:0005127)|growth factor binding (GO:0019838)|interleukin-11 receptor activity (GO:0004921)|interleukin-27 receptor activity (GO:0045509)|protein homodimerization activity (GO:0042803)			breast(2)|endometrium(5)|kidney(5)|large_intestine(4)|liver(2)|lung(1)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	26		Lung NSC(810;8.69e-05)|Prostate(74;0.00308)|Breast(144;0.0544)|Ovarian(174;0.223)				TGGAGTAGTCCATTCCACCCAAAGCATGTTATC	0.347			O		hepatocellular ca																																	ENST00000381298.2				Dom	yes		5	5q11	3572	O	"interleukin 6 signal transducer (gp130, oncostatin M receptor)"			E			hepatocellular ca		0				breast(2)|endometrium(5)|kidney(5)|large_intestine(4)|liver(2)|lung(1)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	26						c.(1315-1329)cgfs		interleukin 6 signal transducer (gp130, oncostatin M receptor)																																				SO:0001589	frameshift_variant	3572				interleukin-6-mediated signaling pathway|leukemia inhibitory factor signaling pathway|negative regulation of interleukin-6-mediated signaling pathway|positive regulation of anti-apoptosis|positive regulation of cardiac muscle hypertrophy|positive regulation of osteoblast differentiation|positive regulation of T cell proliferation|positive regulation of tyrosine phosphorylation of Stat1 protein|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation vascular endothelial growth factor production	ciliary neurotrophic factor receptor complex|extracellular region|extracellular space|interleukin-6 receptor complex|oncostatin-M receptor complex	ciliary neurotrophic factor receptor activity|ciliary neurotrophic factor receptor binding|growth factor binding|protein homodimerization activity	g.chr5:55250760_55250772delCATTCCACCCAAA	M57230	CCDS3971.1, CCDS47209.1, CCDS54856.1	5q11.2	2014-04-04	2014-04-04		ENSG00000134352	ENSG00000134352		"Interleukins and interleukin receptors", "CD molecules", "Fibronectin type III domain containing"	6021	protein-coding gene	gene with protein product	"gp130, oncostatin M receptor"	600694	"interleukin 6 signal transducer (gp130, oncostatin M receptor)"			2261637	Standard	NM_002184		Approved	GP130, CD130	uc003jqq.3	P40189	OTTHUMG00000097043	ENST00000381298.2:c.1316_1328delTTTGGGTGGAATG	5.37:g.55250760_55250772delCATTCCACCCAAA	ENSP00000370698:p.Leu439fs					IL6ST_ENST00000381293.2_Intron|IL6ST_ENST00000381294.3_Intron|IL6ST_ENST00000536319.1_Intron|IL6ST_ENST00000336909.5_Frame_Shift_Del_p.LWVEW439fs|IL6ST_ENST00000502326.3_Frame_Shift_Del_p.LWVEW439fs|IL6ST_ENST00000381287.4_3'UTR|IL6ST_ENST00000381286.3_Intron|IL6ST_ENST00000522633.2_3'UTR	p.LWVEW439fs	NM_001190981.1|NM_002184.3|NM_175767.2	NP_001177910.1|NP_002175.2|NP_786943.1	P40189	IL6RB_HUMAN			11	1628_1640	-		Lung NSC(810;8.69e-05)|Prostate(74;0.00308)|Breast(144;0.0544)|Ovarian(174;0.223)	439			Fibronectin type-III 4.		A0N0L4|Q5FC04|Q9UQ41	Frame_Shift_Del	DEL	ENST00000381298.2	37	c.1316_1328delTTTGGGTGGAATG	CCDS3971.1																																																																																				0.347	IL6ST-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000214146.3	NM_002184		45	290						45	290	---	---	---	---	-	55250772	CATTCCACCCAAA	-	55250760	7	5	72	1	0	1	0	1	0	0	0	0	7703	595	21	0	1456	0	IL6ST	5	55250760	Frame_Shift_Del	DEL	CATTCCACCCAAA	TCGA-EJ-5526-01A-01D-1576-08		55250760	125664500	11	3752											
RREB1	6239	broad.mit.edu	37	chr6	7230059	7230059	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccagccccacgcggccacgcGgctctccctgcagcagccgc	5	3	11	22	5	1	0	0	0	1	0	2	0	1	0	6	2	4	3	6	2	0	0			TCGA-EJ-5526-01A-01D-1576-08	TCGA-EJ-5526-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28436e84-7985-4676-a36c-4b18f064db9a	764d600c-bbe7-4996-8f5d-4ec9a3adc6af	g.chr6:7230059G>A	ENST00000349384.6	+	10	2041	c.1727G>A	c.(1726-1728)cGg>cAg	p.R576Q	RREB1_ENST00000379938.2_Missense_Mutation_p.R576Q|RREB1_ENST00000334984.6_Missense_Mutation_p.R576Q|RREB1_ENST00000379933.3_Missense_Mutation_p.R576Q	NM_001003698.3	NP_001003698.1	Q92766	RREB1_HUMAN	ras responsive element binding protein 1	576					multicellular organismal development (GO:0007275)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|Ras protein signal transduction (GO:0007265)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear body (GO:0016604)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R576Q(1)		breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)				GCGGCCACGCGGCTCTCCCTG	0.711																																						ENST00000379938.2																			1	Substitution - Missense(1)	p.R576Q(1)	prostate(1)	breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						c.(1726-1728)cGg>cAg		ras responsive element binding protein 1							8	9	9					6																	7230059		2046	4073	6119	SO:0001583	missense	6239				multicellular organismal development|positive regulation of transcription, DNA-dependent|Ras protein signal transduction|transcription from RNA polymerase II promoter	cytoplasm|nuclear speck	DNA binding|zinc ion binding	g.chr6:7230059G>A	U26914	CCDS34335.1, CCDS34336.1, CCDS54963.1	6p25	2013-01-08			ENSG00000124782	ENSG00000124782		"Zinc fingers, C2H2-type"	10449	protein-coding gene	gene with protein product	"hindsight homolog (drosophila)"	602209				9367691, 18394891	Standard	NM_001003698		Approved	HNT	uc003mxb.3	Q92766	OTTHUMG00000014201	ENST00000349384.6:c.1727G>A	6.37:g.7230059G>A	ENSP00000305560:p.Arg576Gln					RREB1_ENST00000334984.6_Missense_Mutation_p.R576Q|RREB1_ENST00000379933.3_Missense_Mutation_p.R576Q|RREB1_ENST00000349384.6_Missense_Mutation_p.R576Q	p.R576Q	NM_001003699.3|NM_001003700.1	NP_001003699.1|NP_001003700.1	Q92766	RREB1_HUMAN			10	2264	+	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)	576					A2RRF5|E2GM80|E2GM81|O75567|O75568|Q5VYB2|Q6BEP5|Q6BEP6|Q6BEP8|Q86SU2|Q9Y474	Missense_Mutation	SNP	ENST00000349384.6	37	c.1727G>A	CCDS34336.1	.	.	.	.	.	.	.	.	.	.	G	0.013	-1.629014	0.00813	.	.	ENSG00000124782	ENST00000379933;ENST00000379938;ENST00000349384;ENST00000334984;ENST00000483150	T;T;T;T;T	0.10099	3.05;3.01;3.05;2.91;3.0	5.27	0.0902	0.14462	.	.	.	.	.	T	0.00695	0.0023	N	0.00926	-1.1	0.25388	N	0.98855	B;B;B	0.10296	0.001;0.001;0.003	B;B;B	0.04013	0.0;0.0;0.001	T	0.46652	-0.9176	9	0.09590	T	0.72	-17.5151	5.7871	0.18338	0.5923:0.2652:0.1425:0.0	.	576;576;576	Q92766-3;Q92766;Q92766-2	.;RREB1_HUMAN;.	Q	576	ENSP00000369265:R576Q;ENSP00000369270:R576Q;ENSP00000305560:R576Q;ENSP00000335574:R576Q;ENSP00000419511:R576Q	ENSP00000335574:R576Q	R	+	2	0	RREB1	7175058	1.000000	0.71417	0.527000	0.27925	0.225000	0.24961	2.810000	0.47979	-0.113000	0.11958	-1.058000	0.02302	CGG		0.711	RREB1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000352985.1			4	13	0	0	0	0.335167	0	4	13					A	7230059	G	A	7230059	3	1	72	1	0	0	0	0	1	0	0	0	13679	1116	39	2	1753	2	RREB1	6	7230059	Missense_Mutation	SNP	G	TCGA-EJ-5526-01A-01D-1576-08		7230059	163885008	12	3753											
BAT2	7916	broad.mit.edu	37	chr6	31590596	31590598	+	In_Frame_Del	DEL	GGG	GGG	-																															cgctcggggccgactgccaaGggaaaggatggaaagaagta																										TCGA-EJ-5526-01A-01D-1576-08	TCGA-EJ-5526-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28436e84-7985-4676-a36c-4b18f064db9a	764d600c-bbe7-4996-8f5d-4ec9a3adc6af	g.chr6:31590596_31590598delGGG	ENST00000376033.2	+	2	264_266	c.30_32delGGG	c.(28-33)aaggga>aaa	p.G11del	PRRC2A_ENST00000469577.1_Intron|PRRC2A_ENST00000376007.4_In_Frame_Del_p.G11del|SNORA38_ENST00000363946.1_RNA	NM_004638.3	NP_004629.3	P48634	PRC2A_HUMAN	proline-rich coiled-coil 2A	11						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	70						CGACTGCCAAGGGAAAGGATGGA	0.547																																						ENST00000376033.2																			0				breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	70						c.(28-33)aaa>aa		proline-rich coiled-coil 2A																																				SO:0001651	inframe_deletion	7916					cytoplasm|nucleus	protein binding	g.chr6:31590596_31590598delGGG	M31293	CCDS4708.1	6p21.3	2010-12-09	2010-12-09	2010-12-09	ENSG00000204469	ENSG00000204469			13918	protein-coding gene	gene with protein product		142580	"HLA-B associated transcript 2"	BAT2		2156268, 8499947	Standard	NM_080686		Approved	G2, D6S51E	uc003nvc.4	P48634	OTTHUMG00000031168	ENST00000376033.2:c.30_32delGGG	6.37:g.31590596_31590598delGGG	ENSP00000365201:p.Gly11del					PRRC2A_ENST00000469577.1_Intron|PRRC2A_ENST00000376007.4_In_Frame_Del_p.KG10del	p.KG10del	NM_004638.3	NP_004629.3	P48634	PRC2A_HUMAN			2	264_266	+			10					B0UX77|B0UZE9|B0UZL3|O95875|Q05BK4|Q4LE37|Q5SQ29|Q5SQ30|Q5ST84|Q5STX6|Q5STX7|Q68DW9|Q6P9P7|Q6PIN1|Q8MGQ9|Q96QC6	In_Frame_Del	DEL	ENST00000376033.2	37	c.30_32delGGG	CCDS4708.1																																																																																				0.547	PRRC2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259319.1	NM_080686		46	298						46	298	---	---	---	---	-	31590598	GGG	-	31590596	7	5	72	1	0	1	0	1	0	0	0	0	1319	991	35	0	32	0	BAT2	6	31590596	In_Frame_Del	DEL	GGG	TCGA-EJ-5526-01A-01D-1576-08	24360537	31590596	139524471	13	3754											
URGCP	55665	broad.mit.edu	37	chr7	43918497	43918497	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtctgaggagagcagcagggCacagagaaggtctaaggggt	12	5	18	6	0	2	3	0	1	2	2	2	5	2	3	0	5	2	3	0	5	2	1			TCGA-EJ-5526-01A-01D-1576-08	TCGA-EJ-5526-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28436e84-7985-4676-a36c-4b18f064db9a	764d600c-bbe7-4996-8f5d-4ec9a3adc6af	g.chr7:43918497C>A	ENST00000453200.1	-	6	1058	c.565G>T	c.(565-567)Gcc>Tcc	p.A189S	URGCP_ENST00000447717.3_Missense_Mutation_p.A146S|URGCP_ENST00000497914.1_5'UTR|URGCP-MRPS24_ENST00000603700.1_Intron|URGCP_ENST00000336086.6_Missense_Mutation_p.A146S|URGCP_ENST00000223341.7_Missense_Mutation_p.A146S|URGCP_ENST00000443736.1_Missense_Mutation_p.A146S|URGCP_ENST00000402306.3_Missense_Mutation_p.A180S			Q8TCY9	URGCP_HUMAN	upregulator of cell proliferation	189					cell cycle (GO:0007049)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	GTP binding (GO:0005525)	p.A146S(1)		breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|liver(1)|lung(13)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						AGCAGCAGGGCACAGAGAAGG	0.532																																						ENST00000336086.6																			1	Substitution - Missense(1)	p.A146S(1)	prostate(1)	breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|liver(1)|lung(13)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						c.(436-438)Gcc>Tcc		upregulator of cell proliferation							63	67	66					7																	43918497		2036	4195	6231	SO:0001583	missense	55665				cell cycle	centrosome|nucleus	GTP binding	g.chr7:43918497C>A		CCDS43572.1, CCDS47577.1, CCDS47578.1	7p13	2010-02-17			ENSG00000106608	ENSG00000106608			30890	protein-coding gene	gene with protein product	"up-regulated gene 4"	610337				10819331, 12082552	Standard	NM_017920		Approved	URG4, KIAA1507, FLJ20654, DKFZp666G166, DKFZp686O0457	uc003tiw.3	Q8TCY9	OTTHUMG00000155245	ENST00000453200.1:c.565G>T	7.37:g.43918497C>A	ENSP00000396918:p.Ala189Ser					URGCP_ENST00000447717.3_Missense_Mutation_p.A146S|URGCP_ENST00000497914.1_5'UTR|RP5-1165K10.1_ENST00000603700.1_Intron|URGCP_ENST00000223341.7_Missense_Mutation_p.A146S|URGCP_ENST00000402306.3_Missense_Mutation_p.A180S|URGCP_ENST00000453200.1_Missense_Mutation_p.A189S|URGCP_ENST00000443736.1_Missense_Mutation_p.A146S	p.A146S			Q8TCY9	URGCP_HUMAN			4	2672	-			189					E9PFF6|Q658M4|Q68DH6|Q6MZZ5|Q8WV98|Q9NWR7|Q9P221	Missense_Mutation	SNP	ENST00000453200.1	37	c.436G>T	CCDS47578.1	.	.	.	.	.	.	.	.	.	.	C	19.53	3.844624	0.71488	.	.	ENSG00000106608	ENST00000223341;ENST00000336086;ENST00000402306;ENST00000443736;ENST00000453200;ENST00000447717;ENST00000426198	T;T;T;T;T;T;T	0.48201	0.82;0.82;0.82;0.82;0.82;0.82;0.82	5.66	4.78	0.61160	.	0.174257	0.49305	D	0.000142	T	0.53302	0.1788	M	0.80982	2.52	0.33487	D	0.588266	P;P	0.41673	0.759;0.759	B;B	0.41860	0.368;0.368	T	0.71337	-0.4623	10	0.62326	D	0.03	-29.2336	12.3081	0.54914	0.0:0.9178:0.0:0.0822	.	180;189	Q8TCY9-2;Q8TCY9	.;URGCP_HUMAN	S	146;146;180;146;189;146;146	ENSP00000223341:A146S;ENSP00000336872:A146S;ENSP00000384955:A180S;ENSP00000392136:A146S;ENSP00000396918:A189S;ENSP00000402803:A146S;ENSP00000389990:A146S	ENSP00000223341:A146S	A	-	1	0	URGCP	43885022	0.998000	0.40836	0.997000	0.53966	0.971000	0.66376	3.731000	0.55013	1.403000	0.46800	0.591000	0.81541	GCC		0.532	URGCP-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000338995.1	NM_001077664		21	54	1	0	3.73194e-20	0.592651	4.42625e-20	21	54					A	43918497	C	A	43918497	3	1	72	1	0	0	0	0	1	0	0	0	17023	710	25	5	2234	5	URGCP	7	43918497	Missense_Mutation	SNP	C	TCGA-EJ-5526-01A-01D-1576-08		43918497	115220166	14	3755											
PLEKHA2	59339	broad.mit.edu	37	chr8	38793568	38793569	+	Splice_Site	DEL	GG	GG	-																															cagctgacctacatctcgaaGgtaatgttgacctggaactc																										TCGA-EJ-5526-01A-01D-1576-08	TCGA-EJ-5526-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28436e84-7985-4676-a36c-4b18f064db9a	764d600c-bbe7-4996-8f5d-4ec9a3adc6af	g.chr8:38793568_38793569delGG	ENST00000521746.1	+	3	432	c.198delGG	c.(196-198)aag>aa	p.K66fs	PLEKHA2_ENST00000420274.1_Splice_Site_p.K66fs|PLEKHA2_ENST00000388745.4_3'UTR			Q9HB19	PKHA2_HUMAN	pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 2	66	PH 1. {ECO:0000255|PROSITE- ProRule:PRU00145}.				positive regulation of cell-matrix adhesion (GO:0001954)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	fibronectin binding (GO:0001968)|laminin binding (GO:0043236)|lipid binding (GO:0008289)			breast(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)	13		all_lung(54;0.0413)|Lung NSC(58;0.115)|Hepatocellular(245;0.152)	LUSC - Lung squamous cell carcinoma(45;4.68e-08)|COAD - Colon adenocarcinoma(9;0.235)			ACATCTCGAAGGTAATGTTGAC	0.46																																						ENST00000420274.1																			0				breast(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)	13						c.e3+1		pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 2																																				SO:0001630	splice_region_variant	59339				positive regulation of cell-matrix adhesion	cytoplasm|nucleus|plasma membrane|protein complex	fibronectin binding|laminin binding	g.chr8:38793568_38793569delGG	AF286164	CCDS75732.1	8p11.21	2013-01-10	2002-01-14			ENSG00000169499		"Pleckstrin homology (PH) domain containing"	14336	protein-coding gene	gene with protein product	"tandem PH Domain containing protein-2"	607773	"pleckstrin homology domain-containing, family A (phosphoinositide binding specific) member 2"			11001876	Standard	NM_021623		Approved	TAPP2	uc003xmi.4	Q9HB19		ENST00000521746.1:c.198+1GG>-	8.37:g.38793568_38793569delGG						PLEKHA2_ENST00000521746.1_Splice_Site_p.66_splice|PLEKHA2_ENST00000388745.4_3'UTR	p.66_splice	NM_021623.1	NP_067636.1	Q9HB19	PKHA2_HUMAN	LUSC - Lung squamous cell carcinoma(45;4.68e-08)|COAD - Colon adenocarcinoma(9;0.235)		3	432	+		all_lung(54;0.0413)|Lung NSC(58;0.115)|Hepatocellular(245;0.152)	66			PH 1.			Splice_Site	DEL	ENST00000521746.1	37	c.198_splice																																																																																					0.46	PLEKHA2-002	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000377068.1	NM_021623	Frame_Shift_Del	24	203						24	203	---	---	---	---	-	38793569	GG	-	38793568	8	5	72	1	0	1	0	1	0	0	1	0	12056	1014	35	0	204	0	PLEKHA2	8	38793568	Splice_Site	DEL	GG	TCGA-EJ-5526-01A-01D-1576-08		38793568	107570454	15	3756											
RORB	6096	broad.mit.edu	37	chr9	77280437	77280437	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggttttagtgagaatgtgccGtgccttcaacccattaaaca	11	12	9	9	1	1	1	1	1	0	1	1	2	1	1	3	1	4	1	3	1	5	4			TCGA-EJ-5526-01A-01D-1576-08	TCGA-EJ-5526-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28436e84-7985-4676-a36c-4b18f064db9a	764d600c-bbe7-4996-8f5d-4ec9a3adc6af	g.chr9:77280437G>A	ENST00000396204.2	+	7	959	c.959G>A	c.(958-960)cGt>cAt	p.R320H	RORB_ENST00000376896.3_Missense_Mutation_p.R309H			Q92753	RORB_HUMAN	RAR-related orphan receptor B	320	Ligand-binding. {ECO:0000255}.				amacrine cell differentiation (GO:0035881)|cellular response to retinoic acid (GO:0071300)|eye photoreceptor cell development (GO:0042462)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of circadian rhythm (GO:0042752)|regulation of transcription, DNA-templated (GO:0006355)|retina development in camera-type eye (GO:0060041)|retinal cone cell development (GO:0046549)|retinal rod cell development (GO:0046548)|rhythmic process (GO:0048511)|transcription initiation from RNA polymerase II promoter (GO:0006367)|visual perception (GO:0007601)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)	p.R309H(1)		breast(2)|large_intestine(4)|lung(1)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	12					Melatonin(DB01065)	AGAATGTGCCGTGCCTTCAAC	0.313																																						ENST00000376896.2																			1	Substitution - Missense(1)	p.R309H(1)	prostate(1)	breast(2)|large_intestine(4)|lung(1)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	12						c.(925-927)cGt>cAt		RAR-related orphan receptor B							171	147	155					9																	77280437		2203	4300	6503	SO:0001583	missense	6096				eye photoreceptor cell development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|visual perception	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	g.chr9:77280437G>A	Y08639	CCDS6646.1	9q22	2013-01-16			ENSG00000198963	ENSG00000198963		"Nuclear hormone receptors"	10259	protein-coding gene	gene with protein product		601972				7926749	Standard	NM_006914		Approved	RZRB, NR1F2, ROR-BETA	uc004ajh.3	Q92753	OTTHUMG00000020026	ENST00000396204.2:c.959G>A	9.37:g.77280437G>A	ENSP00000379507:p.Arg320His					RORB_ENST00000396204.2_Missense_Mutation_p.R320H	p.R309H	NM_006914.3	NP_008845.2	Q92753	RORB_HUMAN			7	1538	+			320			Ligand-binding (Potential).		Q8WX73	Missense_Mutation	SNP	ENST00000396204.2	37	c.926G>A		.	.	.	.	.	.	.	.	.	.	G	35	5.435942	0.96168	.	.	ENSG00000198963	ENST00000376896;ENST00000396204	D;D	0.96619	-4.07;-4.07	5.92	5.92	0.95590	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	0.100525	0.64402	D	0.000002	D	0.98469	0.9490	M	0.88181	2.935	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.992	D	0.98113	1.0421	10	0.45353	T	0.12	.	20.3343	0.98733	0.0:0.0:1.0:0.0	.	320;309	Q92753;Q58EY0	RORB_HUMAN;.	H	309;320	ENSP00000366093:R309H;ENSP00000379507:R320H	ENSP00000366093:R309H	R	+	2	0	RORB	76470257	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.822000	0.97130	0.650000	0.86243	CGT		0.313	RORB-201	KNOWN	basic	protein_coding	protein_coding				54	130	0	0	0	0.870114	0	54	130					A	77280437	G	A	77280437	3	1	72	1	0	0	0	0	1	0	0	0	13529	1145	40	1	952	1	RORB	9	77280437	Missense_Mutation	SNP	G	TCGA-EJ-5526-01A-01D-1576-08		77280437	63932994	16	3757											
LCN2	3934	broad.mit.edu	37	chr9	130914560	130914560	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	acatcgtcttccctgtcccaAtcggtaatggccagtctgga	8	11	9	13	2	2	0	0	0	2	0	6	1	4	1	3	3	0	1	3	3	2	2			TCGA-EJ-5526-01A-01D-1576-08	TCGA-EJ-5526-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28436e84-7985-4676-a36c-4b18f064db9a	764d600c-bbe7-4996-8f5d-4ec9a3adc6af	g.chr9:130914560A>G	ENST00000373017.1	+	6	811	c.574A>G	c.(574-576)Atc>Gtc	p.I192V	LCN2_ENST00000372998.1_Missense_Mutation_p.I194V|LCN2_ENST00000470902.1_3'UTR|LCN2_ENST00000540948.1_Missense_Mutation_p.I192V|LCN2_ENST00000277480.2_Missense_Mutation_p.I192V|LCN2_ENST00000373013.2_Missense_Mutation_p.I194V			P80188	NGAL_HUMAN	lipocalin 2	192					apoptotic process (GO:0006915)|innate immune response (GO:0045087)|ion transport (GO:0006811)|iron ion homeostasis (GO:0055072)|siderophore transport (GO:0015891)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	iron ion binding (GO:0005506)|small molecule binding (GO:0036094)|transporter activity (GO:0005215)	p.I192V(1)		central_nervous_system(1)|lung(3)|prostate(2)|skin(1)|urinary_tract(1)	8						CCCTGTCCCAATCGGTAATGG	0.562																																						ENST00000540948.1																			1	Substitution - Missense(1)	p.I192V(1)	prostate(1)	central_nervous_system(1)|lung(3)|prostate(2)|skin(1)|urinary_tract(1)	8						c.(574-576)Atc>Gtc		lipocalin 2							85	72	77					9																	130914560		2203	4300	6503	SO:0001583	missense	3934				apoptosis|innate immune response|regulation of apoptosis|siderophore transport		iron ion binding|transporter activity	g.chr9:130914560A>G		CCDS6892.1	9q34	2011-10-24	2007-12-18		ENSG00000148346	ENSG00000148346		"Lipocalins"	6526	protein-coding gene	gene with protein product	"oncogene 24p3", "neutrophil gelatinase-associated lipocalin", "siderocalin"	600181	"lipocalin 2 (oncogene 24p3)"			7683678	Standard	NM_005564		Approved	NGAL, 24p3	uc004bto.1	P80188	OTTHUMG00000020734	ENST00000373017.1:c.574A>G	9.37:g.130914560A>G	ENSP00000362108:p.Ile192Val					LCN2_ENST00000470902.1_3'UTR|LCN2_ENST00000372998.1_Missense_Mutation_p.I194V|LCN2_ENST00000373017.1_Missense_Mutation_p.I192V|LCN2_ENST00000277480.2_Missense_Mutation_p.I192V|LCN2_ENST00000373013.2_Missense_Mutation_p.I194V	p.I192V			P80188	NGAL_HUMAN			5	647	+			192					A6NII8|B4DWV4|B7ZAA2|P30150|Q5SYV9|Q5SYW0|Q6FGL5|Q92683	Missense_Mutation	SNP	ENST00000373017.1	37	c.574A>G	CCDS6892.1	.	.	.	.	.	.	.	.	.	.	A	9.825	1.186882	0.21870	.	.	ENSG00000148346	ENST00000373017;ENST00000277480;ENST00000373013;ENST00000540948;ENST00000372998	T;T;T;T;T	0.22336	1.97;1.97;1.97;1.96;1.98	4.05	2.93	0.34026	Calycin-like (1);Calycin (1);	0.300893	0.23680	N	0.045631	T	0.15305	0.0369	L	0.42245	1.32	0.09310	N	1	B;B	0.09022	0.001;0.002	B;B	0.15052	0.003;0.012	T	0.09465	-1.0673	10	0.35671	T	0.21	-20.9696	5.641	0.17565	0.8783:0.0:0.1217:0.0	.	192;192	P80188-2;P80188	.;NGAL_HUMAN	V	192;192;194;192;194	ENSP00000362108:I192V;ENSP00000277480:I192V;ENSP00000362104:I194V;ENSP00000441666:I192V;ENSP00000362089:I194V	ENSP00000277480:I192V	I	+	1	0	LCN2	129954381	0.008000	0.16893	0.087000	0.20705	0.351000	0.29236	1.288000	0.33296	1.848000	0.53677	0.374000	0.22700	ATC		0.562	LCN2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000054375.1	NM_005564		23	48	0	0	0	0.654019	0	23	48					G	130914560	A	G	130914560	3	3	72	1	0	0	0	0	1	0	0	0	8684	101	4	4	592	4	LCN2	9	130914560	Missense_Mutation	SNP	A	TCGA-EJ-5526-01A-01D-1576-08	53634123	130914560	10298871	17	3758											
CCDC3	83643	broad.mit.edu	37	chr10	12940424	12940424	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cccccaggcccgttacccccGcaggtagggggggcgcacgg	5	3	16	17	4	0	0	0	0	0	0	0	0	0	0	5	6	1	4	5	6	2	2	rs571990387		TCGA-EJ-5526-01A-01D-1576-08	TCGA-EJ-5526-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28436e84-7985-4676-a36c-4b18f064db9a	764d600c-bbe7-4996-8f5d-4ec9a3adc6af	g.chr10:12940424G>A	ENST00000378825.3	-	3	931	c.805C>T	c.(805-807)Cgg>Tgg	p.R269W	CCDC3_ENST00000378839.1_Missense_Mutation_p.R144W	NM_031455.3	NP_113643.1	Q9BQI4	CCDC3_HUMAN	coiled-coil domain containing 3	269						endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)		p.R269W(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)|prostate(2)	11		Ovarian(717;0.0822)	BRCA - Breast invasive adenocarcinoma(52;0.163)			CGTTACCCCCGCAGGTAGGGG	0.637													G|||	1	0.000199681	0	0.0014	5008	,	,		13491	0		0	False		,,,				2504	0					ENST00000378839.1																			1	Substitution - Missense(1)	p.R269W(1)	prostate(1)	central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)|prostate(2)	11						c.(430-432)Cgg>Tgg		coiled-coil domain containing 3							12	15	14					10																	12940424		1927	3912	5839	SO:0001583	missense	83643					endoplasmic reticulum|extracellular region		g.chr10:12940424G>A	BC051334	CCDS7093.1, CCDS60484.1	10p14	2004-02-13			ENSG00000151468	ENSG00000151468			23813	protein-coding gene	gene with protein product							Standard	NM_031455		Approved	DKFZp761F241	uc001ilq.1	Q9BQI4	OTTHUMG00000017689	ENST00000378825.3:c.805C>T	10.37:g.12940424G>A	ENSP00000368102:p.Arg269Trp					CCDC3_ENST00000378825.3_Missense_Mutation_p.R269W	p.R144W			Q9BQI4	CCDC3_HUMAN	BRCA - Breast invasive adenocarcinoma(52;0.163)		7	1382	-		Ovarian(717;0.0822)	269					Q5VYV8|Q5VYV9	Missense_Mutation	SNP	ENST00000378825.3	37	c.430C>T	CCDS7093.1	.	.	.	.	.	.	.	.	.	.	G	11.20	1.570044	0.28003	.	.	ENSG00000151468	ENST00000378839;ENST00000378825	.	.	.	4.78	2.68	0.31781	.	2.023030	0.03384	N	0.200799	T	0.28499	0.0705	N	0.14661	0.345	0.09310	N	1	B	0.10296	0.003	B	0.06405	0.002	T	0.24728	-1.0152	9	0.87932	D	0	-4.1584	4.8814	0.13681	0.1173:0.0:0.6046:0.2781	.	269	Q9BQI4	CCDC3_HUMAN	W	144;269	.	ENSP00000368102:R269W	R	-	1	2	CCDC3	12980430	0.528000	0.26314	0.285000	0.24819	0.318000	0.28184	0.954000	0.29175	1.177000	0.42855	0.561000	0.74099	CGG		0.637	CCDC3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046829.1	NM_031455		10	54	0	0	0	0.38729	0	10	54					A	12940424	G	A	12940424	3	1	72	1	0	0	0	0	1	0	0	0	2804	1086	38	1	11	1	CCDC3	10	12940424	Missense_Mutation	SNP	G	TCGA-EJ-5526-01A-01D-1576-08		12940424	122594323	18	3759											
OR52A1	23538	broad.mit.edu	37	chr11	5172911	5172911	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tagcctccttctggggcaaaCgaaaaactgtgataaatatc	14	10	8	9	1	1	1	0	1	1	0	3	2	2	1	2	2	3	1	2	2	7	4	rs149615083	byFrequency	TCGA-EJ-5526-01A-01D-1576-08	TCGA-EJ-5526-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28436e84-7985-4676-a36c-4b18f064db9a	764d600c-bbe7-4996-8f5d-4ec9a3adc6af	g.chr11:5172911C>T	ENST00000380367.1	-	2	1106	c.689G>A	c.(688-690)cGt>cAt	p.R230H	OR52A1_ENST00000328942.1_Missense_Mutation_p.R230H			Q9UKL2	O52A1_HUMAN	olfactory receptor, family 52, subfamily A, member 1	230					sensory perception of smell (GO:0007608)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)|transmembrane signaling receptor activity (GO:0004888)	p.R230H(1)		breast(2)|endometrium(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	19		Medulloblastoma(188;0.00106)|Breast(177;0.0155)|all_neural(188;0.0189)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CTGGGGCAAACGAAAAACTGT	0.428													C|||	2	0.000399361	0.0015	0	5008	,	,		22186	0		0	False		,,,				2504	0					ENST00000380367.1																			1	Substitution - Missense(1)	p.R230H(1)	prostate(1)	breast(2)|endometrium(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	19						c.(688-690)cGt>cAt		olfactory receptor, family 52, subfamily A, member 1		C	HIS/ARG	2,4400	4.2+/-10.8	0,2,2199	172	158	162		689	-5.8	0	11	dbSNP_134	162	0,8596		0,0,4298	no	missense	OR52A1	NM_012375.2	29	0,2,6497	TT,TC,CC		0.0,0.0454,0.0154	benign	230/313	5172911	2,12996	2201	4298	6499	SO:0001583	missense	23538				sensory perception of smell	integral to plasma membrane	olfactory receptor activity	g.chr11:5172911C>T	AF154673	CCDS31374.1	11p15.4	2012-08-09			ENSG00000182070	ENSG00000182070		"GPCR / Class A : Olfactory receptors"	8318	protein-coding gene	gene with protein product						10512676	Standard	NM_012375		Approved	HPFH1OR	uc010qyy.2	Q9UKL2	OTTHUMG00000066603	ENST00000380367.1:c.689G>A	11.37:g.5172911C>T	ENSP00000369725:p.Arg230His					OR52A1_ENST00000328942.1_Missense_Mutation_p.R230H	p.R230H			Q9UKL2	O52A1_HUMAN		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	2	1106	-		Medulloblastoma(188;0.00106)|Breast(177;0.0155)|all_neural(188;0.0189)	230					Q6IF31	Missense_Mutation	SNP	ENST00000380367.1	37	c.689G>A	CCDS31374.1	.	.	.	.	.	.	.	.	.	.	C	2.029	-0.422821	0.04734	4.54E-4	0.0	ENSG00000182070	ENST00000380367;ENST00000328942	T;T	0.00262	8.4;8.4	5.33	-5.81	0.02340	GPCR, rhodopsin-like superfamily (1);	1.100120	0.06929	N	0.810707	T	0.00144	0.0004	N	0.17800	0.525	0.09310	N	1	B	0.12630	0.006	B	0.10450	0.005	T	0.16778	-1.0391	10	0.20046	T	0.44	.	14.8761	0.70496	0.0:0.3382:0.0:0.6618	.	230	Q9UKL2	O52A1_HUMAN	H	230	ENSP00000369725:R230H;ENSP00000333684:R230H	ENSP00000333684:R230H	R	-	2	0	OR52A1	5129487	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-2.297000	0.01141	-1.489000	0.01844	-1.575000	0.00869	CGT		0.428	OR52A1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142810.2	NM_012375		30	121	0	0	0	0.717897	0	30	121					T	5172911	C	T	5172911	3	4	72	1	0	0	0	0	1	0	0	0	11108	536	19	1	251	1	OR52A1	11	5172911	Missense_Mutation	SNP	C	TCGA-EJ-5526-01A-01D-1576-08		5172911	129833605	19	3760											
ACER3	55331	broad.mit.edu	37	chr11	76730798	76730798	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtatacaagaacactttaccTgagatataggccaaaagtga	17	9	8	7	0	0	3	0	2	0	2	0	4	0	3	2	1	3	1	2	1	9	6			TCGA-EJ-5526-01A-01D-1576-08	TCGA-EJ-5526-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28436e84-7985-4676-a36c-4b18f064db9a	764d600c-bbe7-4996-8f5d-4ec9a3adc6af	g.chr11:76730798T>G	ENST00000532485.1	+	10	832	c.728T>G	c.(727-729)cTg>cGg	p.L243R	ACER3_ENST00000526597.1_Missense_Mutation_p.L148R|ACER3_ENST00000538157.1_Missense_Mutation_p.L201R|ACER3_ENST00000533873.1_Missense_Mutation_p.L206R|ACER3_ENST00000544113.1_Missense_Mutation_p.L110R	NM_018367.5	NP_060837.3	Q9NUN7	ACER3_HUMAN	alkaline ceramidase 3	243					ceramide metabolic process (GO:0006672)|phytosphingosine biosynthetic process (GO:0071602)|positive regulation of cell proliferation (GO:0008284)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|sphingosine biosynthetic process (GO:0046512)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of Golgi membrane (GO:0030173)	phytoceramidase activity (GO:0070774)	p.L243R(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)	9						ACACTTTACCTGAGATATAGG	0.428																																						ENST00000532485.1																			1	Substitution - Missense(1)	p.L243R(1)	prostate(1)	endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)	9						c.(727-729)cTg>cGg		alkaline ceramidase 3							195	172	180					11																	76730798		2200	4292	6492	SO:0001583	missense	55331				ceramide metabolic process|phytosphingosine biosynthetic process|positive regulation of cell proliferation|sphingosine biosynthetic process	integral to endoplasmic reticulum membrane|integral to Golgi membrane	phytoceramidase activity	g.chr11:76730798T>G	AF214454	CCDS8247.1, CCDS73352.1	11q13.5	2013-01-25	2008-12-19	2008-12-19	ENSG00000078124	ENSG00000078124	3.5.1.23	"Alkaline ceramidase"	16066	protein-coding gene	gene with protein product	"alkaline phytoceramidase"		"phytoceramidase, alkaline"	PHCA		11356846, 18619555	Standard	XM_005274090		Approved	FLJ11238, APHC	uc009yum.1	Q9NUN7	OTTHUMG00000165225	ENST00000532485.1:c.728T>G	11.37:g.76730798T>G	ENSP00000434480:p.Leu243Arg					ACER3_ENST00000538157.1_Missense_Mutation_p.L201R|ACER3_ENST00000526597.1_Missense_Mutation_p.L148R|ACER3_ENST00000533873.1_Missense_Mutation_p.L206R|ACER3_ENST00000544113.1_Missense_Mutation_p.L110R	p.L243R	NM_018367.5	NP_060837.3	Q9NUN7	ACER3_HUMAN			10	832	+			243					B2RC99	Missense_Mutation	SNP	ENST00000532485.1	37	c.728T>G	CCDS8247.1	.	.	.	.	.	.	.	.	.	.	T	21.6	4.176065	0.78564	.	.	ENSG00000078124	ENST00000534206;ENST00000532485;ENST00000526597;ENST00000533873;ENST00000538157;ENST00000544113	T;T;T;T;T	0.40225	1.04;1.04;1.04;1.04;1.04	6.06	6.06	0.98353	.	0.165032	0.41500	D	0.000879	T	0.57902	0.2085	L	0.60845	1.875	0.50632	D	0.999888	D;D	0.89917	0.999;1.0	D;D	0.81914	0.986;0.995	T	0.52290	-0.8595	10	0.15066	T	0.55	-6.5932	14.578	0.68265	0.0:0.0:0.0:1.0	.	206;243	B7Z2Q2;Q9NUN7	.;ACER3_HUMAN	R	201;243;148;206;201;110	ENSP00000434480:L243R;ENSP00000431149:L148R;ENSP00000436252:L206R;ENSP00000440916:L201R;ENSP00000440663:L110R	ENSP00000431149:L148R	L	+	2	0	ACER3	76408446	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	5.620000	0.67736	2.327000	0.79052	0.533000	0.62120	CTG		0.428	ACER3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382770.2	NM_018367		35	193	0	0	0	0.804634	0	35	193					G	76730798	T	G	76730798	3	3	72	1	0	0	0	0	1	0	0	0	140	1580	55	5	766	5	ACER3	11	76730798	Missense_Mutation	SNP	T	TCGA-EJ-5526-01A-01D-1576-08	71557887	76730798	58275718	20	3761											
RBPMS2	348093	broad.mit.edu	37	chr15	65041630	65041630	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cctgttctccacctactcacGttcagcgcattcttggccgc	5	12	7	17	3	4	0	2	0	2	0	5	0	4	0	4	1	2	3	4	1	1	5			TCGA-EJ-5526-01A-01D-1576-08	TCGA-EJ-5526-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28436e84-7985-4676-a36c-4b18f064db9a	764d600c-bbe7-4996-8f5d-4ec9a3adc6af	g.chr15:65041630G>A	ENST00000300069.4	-	4	534	c.267C>T	c.(265-267)aaC>aaT	p.N89N	RBPMS2_ENST00000560606.1_De_novo_Start_OutOfFrame	NM_194272.1	NP_919248.1	Q6ZRY4	RBPS2_HUMAN	RNA binding protein with multiple splicing 2	89	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.						nucleic acid binding (GO:0003676)|nucleotide binding (GO:0000166)	p.N89N(1)		breast(1)|large_intestine(3)|lung(3)|prostate(1)	8						ACCTACTCACGTTCAGCGCAT	0.512																																						ENST00000560606.1																			1	Substitution - coding silent(1)	p.N89N(1)	prostate(1)	breast(1)|large_intestine(3)|lung(3)|prostate(1)	8								RNA binding protein with multiple splicing 2							178	157	164					15																	65041630		2202	4299	6501	SO:0001630	splice_region_variant	348093						nucleic acid binding|nucleotide binding	g.chr15:65041630G>A	AY369207	CCDS32271.1	15q22.31	2014-05-15			ENSG00000166831	ENSG00000166831		"RNA binding motif (RRM) containing"	19098	protein-coding gene	gene with protein product							Standard	NM_194272		Approved		uc002anq.3	Q6ZRY4	OTTHUMG00000172423	ENST00000300069.4:c.267+1C>T	15.37:g.65041630G>A						RBPMS2_ENST00000300069.4_Splice_Site_p.N89_splice				Q6ZRY4	RBPS2_HUMAN			0	266	-								A2RRG0	Translation_Start_Site	SNP	ENST00000300069.4	37		CCDS32271.1																																																																																				0.512	RBPMS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418466.1		Silent	30	113	0	0	0	0.740014	0	30	113					A	65041630	G	A	65041630	5	1	72	1	0	0	0	0	0	0	1	0	13164	1159	40	1	378	1	RBPMS2	15	65041630	Splice_Site	SNP	G	TCGA-EJ-5526-01A-01D-1576-08		65041630	37489762	21	3762											
OSGIN1	29948	broad.mit.edu	37	chr16	83999180	83999180	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cagctgcccaagatgctgtaCcccgagtaccacaaggtgca	11	6	10	14	1	0	1	0	0	0	1	0	2	0	1	4	1	6	5	4	1	4	2			TCGA-EJ-5526-01A-01D-1576-08	TCGA-EJ-5526-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28436e84-7985-4676-a36c-4b18f064db9a	764d600c-bbe7-4996-8f5d-4ec9a3adc6af	g.chr16:83999180C>T	ENST00000343939.2	+	7	1634	c.1251C>T	c.(1249-1251)taC>taT	p.Y417Y	OSGIN1_ENST00000393306.1_Silent_p.Y334Y|OSGIN1_ENST00000361711.3_Silent_p.Y334Y			Q9UJX0	OSGI1_HUMAN	oxidative stress induced growth inhibitor 1	417					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|negative regulation of cell growth (GO:0030308)|positive regulation of apoptotic process (GO:0043065)		growth factor activity (GO:0008083)	p.Y417Y(1)		autonomic_ganglia(1)|large_intestine(1)|lung(7)|prostate(2)|upper_aerodigestive_tract(1)	12						AGATGCTGTACCCCGAGTACC	0.637																																						ENST00000343939.2																			1	Substitution - coding silent(1)	p.Y417Y(1)	prostate(1)	autonomic_ganglia(1)|large_intestine(1)|lung(7)|prostate(2)|upper_aerodigestive_tract(1)	12						c.(1249-1251)taC>taT		oxidative stress induced growth inhibitor 1							63	58	60					16																	83999180		2200	4300	6500	SO:0001819	synonymous_variant	29948				cell differentiation|multicellular organismal development|negative regulation of cell growth		growth factor activity	g.chr16:83999180C>T	AY258066	CCDS10939.1	16q23.3	2010-11-23			ENSG00000140961	ENSG00000140961			30093	protein-coding gene	gene with protein product	"bone marrow stromal cell-derived growth inhibitor", "pregnancy induced growth inhibitor"	607975				11459809, 14570898	Standard	NM_182981		Approved	BDGI, OKL38	uc002fhc.3	Q9UJX0	OTTHUMG00000137640	ENST00000343939.2:c.1251C>T	16.37:g.83999180C>T						OSGIN1_ENST00000361711.3_Silent_p.Y334Y|OSGIN1_ENST00000393306.1_Silent_p.Y334Y	p.Y417Y			Q9UJX0	OSGI1_HUMAN			7	1634	+			417					Q52M33|Q86UQ1|Q96S88|Q9BZ70	Silent	SNP	ENST00000343939.2	37	c.1251C>T																																																																																					0.637	OSGIN1-001	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000269081.1	NM_013370		22	62	0	0	0	0.608945	0	22	62					T	83999180	C	T	83999180	2	4	72	1	0	0	0	0	0	0	0	1	11289	518	18	3		3	OSGIN1	16	83999180	Silent	SNP	C	TCGA-EJ-5526-01A-01D-1576-08		83999180	6355573	22	3763											
BANP	54971	broad.mit.edu	37	chr16	88061088	88061088	+	Splice_Site	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tccttggatgtgtccttccaGgtcaccttttctataaattt	7	18	6	10	0	2	0	1	0	1	0	5	1	5	1	4	2	0	0	4	2	3	7			TCGA-EJ-5526-01A-01D-1576-08	TCGA-EJ-5526-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28436e84-7985-4676-a36c-4b18f064db9a	764d600c-bbe7-4996-8f5d-4ec9a3adc6af	g.chr16:88061088G>C	ENST00000393207.1	+	8	1092		c.e8-1		BANP_ENST00000286122.7_Splice_Site|BANP_ENST00000538234.1_Splice_Site|BANP_ENST00000393208.2_Splice_Site|BANP_ENST00000355022.4_Splice_Site|BANP_ENST00000355163.5_Splice_Site|BANP_ENST00000479780.2_Splice_Site	NM_001173543.1	NP_001167014.1	Q8N9N5	BANP_HUMAN	BTG3 associated nuclear protein						cell cycle (GO:0007049)|chromatin modification (GO:0016568)|multicellular organismal development (GO:0007275)|negative regulation of protein catabolic process (GO:0042177)|protein localization to nucleus (GO:0034504)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)	p.?(2)		NS(1)|endometrium(2)|large_intestine(3)|lung(5)|prostate(1)	12				BRCA - Breast invasive adenocarcinoma(80;0.00551)		TGTCCTTCCAGGTCACCTTTT	0.612																																						ENST00000393207.1																			2	Unknown(2)	p.?(2)	prostate(2)	NS(1)|endometrium(2)|large_intestine(3)|lung(5)|prostate(1)	12						c.e8-1		BTG3 associated nuclear protein							59	62	61					16																	88061088		2198	4300	6498	SO:0001630	splice_region_variant	54971				cell cycle|chromatin modification|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr16:88061088G>C	AK094158	CCDS10966.2, CCDS42215.1, CCDS54052.1, CCDS54053.1, CCDS54054.1	16q24	2012-11-22			ENSG00000172530	ENSG00000172530		"BEN domain containing"	13450	protein-coding gene	gene with protein product	"BEN domain containing 1"	611564				10940556, 10950932	Standard	NM_017869		Approved	SMARBP1, SMAR1, FLJ20538, DKFZp761H172, FLJ10177, BEND1	uc010vow.2	Q8N9N5	OTTHUMG00000137678	ENST00000393207.1:c.872-1G>C	16.37:g.88061088G>C						BANP_ENST00000538234.1_Splice_Site|BANP_ENST00000479780.2_Splice_Site|BANP_ENST00000393208.2_Splice_Site|BANP_ENST00000286122.7_Splice_Site|BANP_ENST00000355022.4_Splice_Site|BANP_ENST00000355163.5_Splice_Site		NM_001173543.1	NP_001167014.1	Q8N9N5	BANP_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.00551)	8	1092	+								A8MU25|A8MX25|B2RCF7|B4DNJ9|F5GZM0|Q96GJ7|Q9NWY1	Splice_Site	SNP	ENST00000393207.1	37		CCDS54054.1	.	.	.	.	.	.	.	.	.	.	G	14.12	2.440267	0.43326	.	.	ENSG00000172530	ENST00000286122;ENST00000355163;ENST00000289484;ENST00000479780;ENST00000393208;ENST00000540932;ENST00000355022;ENST00000538234;ENST00000393207	.	.	.	5.5	5.5	0.81552	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.3871	0.90470	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	BANP	86618589	1.000000	0.71417	1.000000	0.80357	0.187000	0.23431	8.976000	0.93442	2.585000	0.87301	0.462000	0.41574	.		0.612	BANP-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000269166.1	NM_017869	Intron	10	111	0	0	0	0.361761	0	10	111					C	88061088	G	C	88061088	5	2	72	1	0	0	0	0	0	0	1	0	1310	1014	35	5	939	5	BANP	16	88061088	Splice_Site	SNP	G	TCGA-EJ-5526-01A-01D-1576-08	4061908	88061088	2293665	23	3764											
CBFA2T3	863	broad.mit.edu	37	chr16	88967911	88967911	+	Splice_Site	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgccaggtgggggctacttaCgtgtgtgtggcgtgaaggag	6	10	19	6	2	0	1	0	1	0	0	0	2	0	2	1	5	3	1	1	5	3	2			TCGA-EJ-5526-01A-01D-1576-08	TCGA-EJ-5526-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28436e84-7985-4676-a36c-4b18f064db9a	764d600c-bbe7-4996-8f5d-4ec9a3adc6af	g.chr16:88967911C>A	ENST00000268679.4	-	2	701		c.e2+1		CBFA2T3_ENST00000448839.1_Intron|CBFA2T3_ENST00000436887.2_Splice_Site|CBFA2T3_ENST00000360302.2_Splice_Site|CBFA2T3_ENST00000327483.5_Splice_Site	NM_005187.5	NP_005178.4	O75081	MTG16_HUMAN	core-binding factor, runt domain, alpha subunit 2; translocated to, 3						cell proliferation (GO:0008283)|granulocyte differentiation (GO:0030851)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.?(1)		endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	17				BRCA - Breast invasive adenocarcinoma(80;0.0275)		GGGCTACTTACGTGTGTGTGG	0.677			T	RUNX1	AML																																	ENST00000268679.4				Dom	yes		16	16q24	863	T	"core-binding factor, runt domain, alpha subunit 2; translocated to, 3 (MTG-16)"			L	RUNX1		AML		1	Unknown(1)	p.?(1)	prostate(1)	endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	17						c.e2+1		core-binding factor, runt domain, alpha subunit 2; translocated to, 3							16	21	19					16																	88967911		2178	4279	6457	SO:0001630	splice_region_variant	863				cell proliferation|granulocyte differentiation	Golgi membrane|nucleolus|nucleoplasm	protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr16:88967911C>A	AF052213	CCDS10972.1, CCDS10973.1	16q24	2013-10-16			ENSG00000129993	ENSG00000129993		"Zinc fingers, MYND-type", "A-kinase anchor proteins"	1537	protein-coding gene	gene with protein product	"myeloid translocation gene 8 and 16b"	603870				9790752, 20150326	Standard	NM_005187		Approved	MTGR2, ZMYND4, MTG16	uc002fmm.2	O75081	OTTHUMG00000137864	ENST00000268679.4:c.304+1G>T	16.37:g.88967911C>A						CBFA2T3_ENST00000448839.1_Intron|CBFA2T3_ENST00000436887.2_Splice_Site|CBFA2T3_ENST00000360302.2_Splice_Site|CBFA2T3_ENST00000327483.5_Splice_Site		NM_005187.5	NP_005178.4	O75081	MTG16_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0275)	2	701	-								D3DX78|O60615|O60616|O60617|O75082|O75107|O75108|Q0P5Z6|Q6P5W6	Splice_Site	SNP	ENST00000268679.4	37		CCDS10972.1	.	.	.	.	.	.	.	.	.	.	C	17.38	3.376209	0.61735	.	.	ENSG00000129993	ENST00000327483;ENST00000268679;ENST00000436887;ENST00000360302	.	.	.	3.95	3.95	0.45737	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.9453	0.79789	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CBFA2T3	87495412	1.000000	0.71417	0.998000	0.56505	0.742000	0.42306	7.500000	0.81588	1.918000	0.55548	0.491000	0.48974	.		0.677	CBFA2T3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000269545.2	NM_005187	Intron	10	40	1	0	9.31168e-06	0.435327	1.05532e-05	10	40					A	88967911	C	A	88967911	5	1	72	1	0	0	0	0	0	0	1	0	2698	550	19	5	1700	5	CBFA2T3	16	88967911	Splice_Site	SNP	C	TCGA-EJ-5526-01A-01D-1576-08	906823	88967911	1386842	24	3765											
CXCL16	400569	broad.mit.edu	37	chr17	4638741	4638741	+	IGR	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ctctgaggcctgagaaattgGggggctggtaggaagtaaat	11	9	16	5	0	1	2	0	2	1	1	1	4	1	3	1	6	0	3	1	6	5	3			TCGA-EJ-5526-01A-01D-1576-08	TCGA-EJ-5526-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28436e84-7985-4676-a36c-4b18f064db9a	764d600c-bbe7-4996-8f5d-4ec9a3adc6af	g.chr17:4638741G>T	ENST00000293777.5	+	0	833				CXCL16_ENST00000293778.6_Missense_Mutation_p.P141T|CXCL16_ENST00000574412.1_Missense_Mutation_p.P141T|CXCL16_ENST00000576153.1_5'UTR	NM_001001683.2	NP_001001683.1	Q9P086	MED11_HUMAN	mediator complex subunit 11							mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)			lung(2)|ovary(2)	4						TGAGAAATTGGGGGGCTGGTA	0.547																																						ENST00000293778.6																			0				large_intestine(2)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	5						c.(421-423)Cca>Aca		chemokine (C-X-C motif) ligand 16							39	45	43					17																	4638741		2203	4300	6503	SO:0001628	intergenic_variant	58191				lymphocyte chemotaxis|positive regulation of cell growth|positive regulation of cell migration|receptor-mediated endocytosis|response to interferon-gamma|response to tumor necrosis factor	extracellular space|integral to membrane|plasma membrane	chemokine activity|low-density lipoprotein receptor activity|scavenger receptor activity	g.chr17:4638741G>T	AF161414	CCDS32533.1	17p13.2	2007-07-30	2007-07-30			ENSG00000161920			32687	protein-coding gene	gene with protein product		612383	"mediator of RNA polymerase II transcription, subunit 11 homolog (S. cerevisiae)"			15175163, 12584197	Standard	NM_001001683		Approved	HSPC296, MGC88387	uc002fyp.3	Q9P086			17.37:g.4638741G>T						CXCL16_ENST00000574412.1_Missense_Mutation_p.P141T|CXCL16_ENST00000576153.1_5'UTR	p.P141T	NM_022059.2	NP_071342.2	Q9H2A7	CXL16_HUMAN			4	843	-			122					Q6NS89	Missense_Mutation	SNP	ENST00000293777.5	37	c.421C>A	CCDS32533.1	.	.	.	.	.	.	.	.	.	.	G	11.38	1.623138	0.28889	.	.	ENSG00000161921	ENST00000293778	T	0.30182	1.54	5.54	4.57	0.56435	.	0.899165	0.09431	N	0.803071	T	0.24661	0.0598	L	0.36672	1.1	0.09310	N	1	P	0.41910	0.764	B	0.36418	0.224	T	0.08680	-1.0710	10	0.39692	T	0.17	-1.7081	10.1981	0.43067	0.0916:0.0:0.9084:0.0	.	122	Q9H2A7	CXL16_HUMAN	T	141	ENSP00000293778:P141T	ENSP00000293778:P141T	P	-	1	0	CXCL16	4585490	0.004000	0.15560	0.002000	0.10522	0.004000	0.04260	1.415000	0.34748	1.350000	0.45770	0.462000	0.41574	CCA		0.547	MED11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439574.1	NM_001001683		3	48	1	0	0.115264	0.115264	0.125074	3	48					T	4638741	G	T	4638741	1	4	72	0	1	0	0	0	0	0	0	0	4083	1232	43	5		5	CXCL16	17	4638741	IGR	SNP	G	TCGA-EJ-5526-01A-01D-1576-08		4638741	76556469	25	3766											
PPP4R1	9989	broad.mit.edu	37	chr18	9547949	9547949	+	Splice_Site	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggcagaggccaagaaataGtctggaaatgacatgtgcat	14	8	12	7	0	1	3	0	1	1	2	1	4	1	4	1	3	1	2	1	3	4	1			TCGA-EJ-5526-01A-01D-1576-08	TCGA-EJ-5526-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28436e84-7985-4676-a36c-4b18f064db9a	764d600c-bbe7-4996-8f5d-4ec9a3adc6af	g.chr18:9547949G>C	ENST00000400556.3	-	20	2764	c.2691C>G	c.(2689-2691)gaC>gaG	p.D897E	PPP4R1_ENST00000400555.3_Splice_Site_p.D880E	NM_001042388.2	NP_001035847.1	Q8TF05	PP4R1_HUMAN	protein phosphatase 4, regulatory subunit 1	897					dephosphorylation (GO:0016311)|protein phosphorylation (GO:0006468)|regulation of catalytic activity (GO:0050790)|signal transduction (GO:0007165)	protein phosphatase 4 complex (GO:0030289)	protein phosphatase type 4 regulator activity (GO:0030362)	p.D897E(1)		large_intestine(1)|skin(2)	3						CCAAGAAATAGTCTGGAAATG	0.478																																					Melanoma(188;1232 2082 5061 11948 35994)	ENST00000400556.3																			1	Substitution - Missense(1)	p.D897E(1)	prostate(1)	large_intestine(1)|skin(2)	3						c.e20-1		protein phosphatase 4, regulatory subunit 1							49	51	50					18																	9547949		2024	4186	6210	SO:0001630	splice_region_variant	9989				protein phosphorylation|signal transduction	protein phosphatase 4 complex	protein binding|protein phosphatase type 4 regulator activity	g.chr18:9547949G>C	AF111106	CCDS42412.1, CCDS42413.1	18p11.22	2010-06-18			ENSG00000154845	ENSG00000154845		"Serine/threonine phosphatases / Protein phosphatase 4, regulatory subunits"	9320	protein-coding gene	gene with protein product		604908				10026142	Standard	NM_001042388		Approved	PP4R1	uc002koe.2	Q8TF05	OTTHUMG00000137466	ENST00000400556.3:c.2690-1C>G	18.37:g.9547949G>C						PPP4R1_ENST00000400555.3_Splice_Site_p.D880_splice	p.D897_splice	NM_001042388.2	NP_001035847.1	Q8TF05	PP4R1_HUMAN			20	2764	-			897					Q99774|Q9UNQ7	Splice_Site	SNP	ENST00000400556.3	37	c.2689_splice	CCDS42412.1	.	.	.	.	.	.	.	.	.	.	G	0.215	-1.033565	0.02029	.	.	ENSG00000154845	ENST00000400556;ENST00000400555	T;T	0.32753	1.44;1.44	5.65	-11.3	0.00108	Armadillo-like helical (1);Armadillo-type fold (1);	0.439500	0.25732	N	0.028675	T	0.04588	0.0125	N	0.00742	-1.23	0.09310	N	0.999996	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.0;0.0;0.001	T	0.24548	-1.0157	9	.	.	.	.	5.0814	0.14659	0.1354:0.4209:0.3:0.1437	.	880;897;880	A8K923;Q8TF05;Q8TF05-2	.;PP4R1_HUMAN;.	E	897;880	ENSP00000383402:D897E;ENSP00000383401:D880E	.	D	-	3	2	PPP4R1	9537949	0.000000	0.05858	0.012000	0.15200	0.961000	0.63080	-3.481000	0.00456	-3.620000	0.00131	-0.467000	0.05162	GAC		0.478	PPP4R1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000268571.1	NM_005134	Missense_Mutation	24	41	0	0	0	0.667858	0	24	41					C	9547949	G	C	9547949	5	2	72	1	0	0	0	0	0	0	1	0	12403	1043	36	5	165	5	PPP4R1	18	9547949	Splice_Site	SNP	G	TCGA-EJ-5526-01A-01D-1576-08		9547949	68529299	26	3767											
FAM38B	63895	broad.mit.edu	37	chr18	10671739	10671739	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaattcacggacaaatttccCaatcacaaggacaactgaag	17	7	7	10	1	2	1	2	1	0	0	3	4	3	3	1	2	1	0	1	2	6	2			TCGA-EJ-5526-01A-01D-1576-08	TCGA-EJ-5526-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28436e84-7985-4676-a36c-4b18f064db9a	764d600c-bbe7-4996-8f5d-4ec9a3adc6af	g.chr18:10671739C>T	ENST00000503781.3	-	52	8043	c.8044G>A	c.(8044-8046)Ggg>Agg	p.G2682R	PIEZO2_ENST00000538948.1_Missense_Mutation_p.G639R|PIEZO2_ENST00000302079.6_Missense_Mutation_p.G2619R|PIEZO2_ENST00000581680.1_5'UTR|PIEZO2_ENST00000285141.4_Missense_Mutation_p.G474R|PIEZO2_ENST00000580640.1_Missense_Mutation_p.G2707R	NM_022068.2	NP_071351.2	Q9H5I5	PIEZ2_HUMAN	piezo-type mechanosensitive ion channel component 2	2682					cation transport (GO:0006812)|detection of mechanical stimulus involved in sensory perception (GO:0050974)|regulation of membrane potential (GO:0042391)|response to mechanical stimulus (GO:0009612)	integral component of membrane (GO:0016021)	cation channel activity (GO:0005261)|mechanically-gated ion channel activity (GO:0008381)	p.G2682R(1)|p.G474R(1)									ACAAATTTCCCAATCACAAGG	0.333																																						ENST00000302079.6																			2	Substitution - Missense(2)	p.G2682R(1)|p.G474R(1)	prostate(2)								c.(7855-7857)Ggg>Agg		piezo-type mechanosensitive ion channel component 2							69	71	70					18																	10671739		2203	4300	6503	SO:0001583	missense	63895					integral to membrane	ion channel activity	g.chr18:10671739C>T	AK027056		18p11.21	2012-11-19	2011-08-31	2011-08-31	ENSG00000154864	ENSG00000154864			26270	protein-coding gene	gene with protein product		613629	"chromosome 18 open reading frame 30", "chromosome 18 open reading frame 58", "family with sequence similarity 38, member B"	FAM38B2, C18orf30, C18orf58, FAM38B		20813920, 21056836, 21299953	Standard	NM_022068		Approved	FLJ23403, FLJ23144, HsT748, HsT771, FLJ34907	uc002kos.2	Q9H5I5	OTTHUMG00000178507	ENST00000503781.3:c.8044G>A	18.37:g.10671739C>T	ENSP00000421377:p.Gly2682Arg					PIEZO2_ENST00000580640.1_Missense_Mutation_p.G2707R|PIEZO2_ENST00000503781.3_Missense_Mutation_p.G2682R|PIEZO2_ENST00000285141.4_Missense_Mutation_p.G474R|PIEZO2_ENST00000538948.1_Missense_Mutation_p.G639R|PIEZO2_ENST00000581680.1_5'UTR	p.G2619R			Q9H5I5	PIEZ2_HUMAN			51	7854	-			2682					B7Z812|M4GPJ9|Q6ZS91|Q8N787|Q8NAR6|Q9H5R4	Missense_Mutation	SNP	ENST00000503781.3	37	c.7855G>A		.	.	.	.	.	.	.	.	.	.	C	23.8	4.460632	0.84317	.	.	ENSG00000154864	ENST00000503781;ENST00000302079;ENST00000538948;ENST00000285141	D;D	0.84146	-1.81;-1.81	4.62	4.62	0.57501	.	0.000000	0.64402	D	0.000001	D	0.93044	0.7786	M	0.85630	2.765	0.46336	D	0.998998	D	0.89917	1.0	D	0.91635	0.999	D	0.94232	0.7477	10	0.87932	D	0	.	17.6336	0.88116	0.0:1.0:0.0:0.0	.	576	D6RFZ0	.	R	576;2682;639;474	ENSP00000443129:G639R;ENSP00000285141:G474R	ENSP00000285141:G474R	G	-	1	0	FAM38B	10661739	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	7.617000	0.83032	2.409000	0.81822	0.563000	0.77884	GGG		0.333	PIEZO2-003	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000442385.4	NM_022068		42	132	0	0	0	0.827153	0	42	132					T	10671739	C	T	10671739	3	4	72	1	0	0	0	0	1	0	0	0	5555	594	21	3	218	3	FAM38B	18	10671739	Missense_Mutation	SNP	C	TCGA-EJ-5526-01A-01D-1576-08	1123790	10671739	67405509	27	3768											
PLIN3	10226	broad.mit.edu	37	chr19	4847750	4847750	+	Frame_Shift_Del	DEL	G	G	-																															cagagcctcctgtgccctctGcttggtggctcgaagcttgc																										TCGA-EJ-5526-01A-01D-1576-08	TCGA-EJ-5526-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28436e84-7985-4676-a36c-4b18f064db9a	764d600c-bbe7-4996-8f5d-4ec9a3adc6af	g.chr19:4847750delG	ENST00000221957.4	-	6	963	c.787delC	c.(787-789)cagfs	p.Q263fs	PLIN3_ENST00000585479.1_Frame_Shift_Del_p.Q263fs|PLIN3_ENST00000592528.1_Frame_Shift_Del_p.Q251fs	NM_001164189.1|NM_001164194.1|NM_005817.4	NP_001157661.1|NP_001157666.1|NP_005808.3	O60664	PLIN3_HUMAN	perilipin 3	263					vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|lipid particle (GO:0005811)|membrane (GO:0016020)				cervix(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)	9					Galsulfase(DB01279)|Idursulfase(DB01271)	TGTGCCCTCTGCTTGGTGGCT	0.662																																						ENST00000221957.4																			0				cervix(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)	9						c.(787-789)agfs		perilipin 3	Galsulfase(DB01279)|Idursulfase(DB01271)						31	25	27					19																	4847750		2203	4300	6503	SO:0001589	frameshift_variant	10226				vesicle-mediated transport	endosome membrane|Golgi apparatus|lipid particle	protein binding	g.chr19:4847750delG	AF051314	CCDS12137.1, CCDS59337.1, CCDS59338.1	19p13.3	2009-08-12	2009-08-12	2009-08-12		ENSG00000105355		"Perilipins"	16893	protein-coding gene	gene with protein product	"cargo selection protein (mannose 6 phosphate receptor binding protein)", "placental protein 17", "MPR-BINDING PROTEIN, 47-KD"	602702	"mannose-6-phosphate receptor binding protein 1"	M6PRBP1		9590177, 6856484, 19638644	Standard	NM_005817		Approved	TIP47, PP17	uc002mbj.2	O60664		ENST00000221957.4:c.787delC	19.37:g.4847750delG	ENSP00000221957:p.Gln263fs					PLIN3_ENST00000592528.1_Frame_Shift_Del_p.Q251fs|PLIN3_ENST00000585479.1_Frame_Shift_Del_p.Q263fs	p.Q263fs	NM_001164189.1|NM_001164194.1|NM_005817.4	NP_001157661.1|NP_001157666.1|NP_005808.3	O60664	PLIN3_HUMAN			6	963	-			263					A8K4Y9|K7EQF4|Q53G77|Q9BS03|Q9UBD7|Q9UP92	Frame_Shift_Del	DEL	ENST00000221957.4	37	c.787delC	CCDS12137.1																																																																																				0.662	PLIN3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000450436.1	NM_005817		9	16						9	16	---	---	---	---	-	4847750	G	-	4847750	7	5	72	1	0	1	0	1	0	0	0	0	12091	1328	46	0	529	0	PLIN3	19	4847750	Frame_Shift_Del	DEL	G	TCGA-EJ-5526-01A-01D-1576-08		4847750	54281233	28	3769											
COMP	1311	broad.mit.edu	37	chr19	18898325	18898325	+	Silent	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgtcgatgtcgtcgtcgcaCgcatcgccccggccgtcctg	3	8	12	18	9	0	0	0	0	0	0	6	1	1	0	5	1	0	2	5	1	0	0			TCGA-EJ-5526-01A-01D-1576-08	TCGA-EJ-5526-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28436e84-7985-4676-a36c-4b18f064db9a	764d600c-bbe7-4996-8f5d-4ec9a3adc6af	g.chr19:18898325C>G	ENST00000222271.2	-	10	1154	c.1110G>C	c.(1108-1110)gcG>gcC	p.A370A	COMP_ENST00000542601.2_Silent_p.A337A|COMP_ENST00000425807.1_Silent_p.A317A	NM_000095.2	NP_000086.2	P49747	COMP_HUMAN	cartilage oligomeric matrix protein	370			Missing (in PSACH). {ECO:0000269|PubMed:21922596}.		apoptotic process (GO:0006915)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|growth plate cartilage development (GO:0003417)|limb development (GO:0060173)|negative regulation of apoptotic process (GO:0043066)|organ morphogenesis (GO:0009887)|skeletal system development (GO:0001501)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)|heparan sulfate proteoglycan binding (GO:0043395)|heparin binding (GO:0008201)|protease binding (GO:0002020)	p.A370A(1)		breast(6)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32						CGTCGTCGCACGCATCGCCCC	0.697																																						ENST00000542601.2																			1	Substitution - coding silent(1)	p.A370A(1)	prostate(1)	breast(6)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32						c.(1009-1011)gcG>gcC		cartilage oligomeric matrix protein							149	129	136					19																	18898325		2203	4300	6503	SO:0001819	synonymous_variant	1311				anti-apoptosis|apoptosis|cell adhesion|limb development	extracellular space|proteinaceous extracellular matrix	calcium ion binding|collagen binding|extracellular matrix structural constituent|heparan sulfate proteoglycan binding|heparin binding	g.chr19:18898325C>G	L32137	CCDS12385.1	19p13.1	2008-02-05				ENSG00000105664			2227	protein-coding gene	gene with protein product	"thrombospondin-5"	600310	"cartilage oligomeric matrix protein (pseudoachondroplasia, epiphyseal dysplasia 1, multiple)"	PSACH, EDM1, EPD1		7713493, 8307576	Standard	NM_000095		Approved	MED, THBS5	uc002nke.3	P49747	OTTHUMG00000169318	ENST00000222271.2:c.1110G>C	19.37:g.18898325C>G						COMP_ENST00000425807.1_Silent_p.A317A|COMP_ENST00000222271.2_Silent_p.A370A	p.A337A			P49747	COMP_HUMAN			9	1400	-			370					B4DKJ3|O14592|Q16388|Q16389|Q2NL86|Q8N4T2	Silent	SNP	ENST00000222271.2	37	c.1011G>C	CCDS12385.1																																																																																				0.697	COMP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403457.1	NM_000095		39	149	0	0	0	0.853193	0	39	149					G	18898325	C	G	18898325	2	3	72	1	0	0	0	0	0	0	0	1	3724	523	19	5		5	COMP	19	18898325	Silent	SNP	C	TCGA-EJ-5526-01A-01D-1576-08	14050575	18898325	40230658	29	3770											
JPH2	57158	broad.mit.edu	37	chr20	42788455	42788455	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcgtggtgcagccatagccGtggcgcaggttgtccagcca	7	7	15	12	3	0	0	0	0	0	0	1	0	1	0	4	3	5	3	4	3	1	2			TCGA-EJ-5526-01A-01D-1576-08	TCGA-EJ-5526-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28436e84-7985-4676-a36c-4b18f064db9a	764d600c-bbe7-4996-8f5d-4ec9a3adc6af	g.chr20:42788455G>A	ENST00000372980.3	-	2	1844	c.972C>T	c.(970-972)caC>caT	p.H324H		NM_020433.4	NP_065166.2	Q9BR39	JPH2_HUMAN	junctophilin 2	324					calcium ion homeostasis (GO:0055074)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport into cytosol (GO:0060402)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|regulation of cardiac muscle tissue development (GO:0055024)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|Z disc (GO:0030018)	calcium-release channel activity (GO:0015278)|phosphatidic acid binding (GO:0070300)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylinositol-4-phosphate binding (GO:0070273)|phosphatidylinositol-5-phosphate binding (GO:0010314)|phosphatidylserine binding (GO:0001786)	p.H324H(2)		NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(19)|prostate(1)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			AGCCATAGCCGTGGCGCAGGT	0.662																																						ENST00000372980.3																			2	Substitution - coding silent(2)	p.H324H(2)	prostate(1)|endometrium(1)	NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(19)|prostate(1)|upper_aerodigestive_tract(1)	32						c.(970-972)caC>caT		junctophilin 2							50	43	46					20																	42788455		2203	4299	6502	SO:0001819	synonymous_variant	57158				calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane|plasma membrane		g.chr20:42788455G>A	AL034419	CCDS13325.1, CCDS13326.1	20q12-q13.11	2014-09-17			ENSG00000149596	ENSG00000149596			14202	protein-coding gene	gene with protein product		605267				10891348, 10949023	Standard	XM_006723832		Approved	JP-2	uc002xli.1	Q9BR39	OTTHUMG00000033037	ENST00000372980.3:c.972C>T	20.37:g.42788455G>A							p.H324H	NM_020433.4	NP_065166.2	Q9BR39	JPH2_HUMAN	COAD - Colon adenocarcinoma(18;0.00189)		2	1844	-		Myeloproliferative disorder(115;0.0122)	324					E1P5X1|O95913|Q5JY74|Q9UJN4	Silent	SNP	ENST00000372980.3	37	c.972C>T	CCDS13325.1																																																																																				0.662	JPH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080307.1			4	13	0	0	0	0.38729	0	4	13					A	42788455	G	A	42788455	2	1	72	1	0	0	0	0	0	0	0	1	7961	1136	40	1		1	JPH2	20	42788455	Silent	SNP	G	TCGA-EJ-5526-01A-01D-1576-08		42788455	20237065	30	3771											
SAMSN1	64092	broad.mit.edu	37	chr21	15884893	15884893	+	Splice_Site	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cattctctccatcttcctcaTccttcagaaaacatatcaga	12	13	2	14	0	5	2	3	0	2	2	9	2	8	2	3	0	1	0	3	0	3	4			TCGA-EJ-5526-01A-01D-1576-08	TCGA-EJ-5526-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28436e84-7985-4676-a36c-4b18f064db9a	764d600c-bbe7-4996-8f5d-4ec9a3adc6af	g.chr21:15884893T>A	ENST00000400566.1	-	4	362	c.281A>T	c.(280-282)gAt>gTt	p.D94V	SAMSN1_ENST00000285670.2_Splice_Site_p.D162V|SAMSN1_ENST00000400564.1_Intron	NM_022136.4	NP_071419.3	Q9NSI8	SAMN1_HUMAN	SAM domain, SH3 domain and nuclear localization signals 1	94					negative regulation of adaptive immune response (GO:0002820)|negative regulation of B cell activation (GO:0050869)|negative regulation of peptidyl-tyrosine phosphorylation (GO:0050732)	cell projection (GO:0042995)|cytosol (GO:0005829)|nucleus (GO:0005634)	phosphotyrosine binding (GO:0001784)|poly(A) RNA binding (GO:0044822)	p.D162V(1)|p.D94V(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	24				Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.00118)|Colorectal(24;0.00961)|Lung(58;0.164)		ATCTTCCTCATCCTTCAGAAA	0.413																																						ENST00000285670.2																			2	Substitution - Missense(2)	p.D162V(1)|p.D94V(1)	prostate(2)	breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	24						c.e5-1		SAM domain, SH3 domain and nuclear localization signals 1							143	137	139					21																	15884893		1891	4114	6005	SO:0001630	splice_region_variant	64092				negative regulation of adaptive immune response|negative regulation of B cell activation|negative regulation of peptidyl-tyrosine phosphorylation	cytoplasm|nucleus|ruffle	phosphotyrosine binding	g.chr21:15884893T>A	AF222927	CCDS42906.1, CCDS58786.1, CCDS74774.1	21q11	2013-01-10	2006-12-13		ENSG00000155307	ENSG00000155307		"SAM and SH3 domain containing", "Sterile alpha motif (SAM) domain containing"	10528	protein-coding gene	gene with protein product	"nuclear localization signals, SAM and SH3 domain containing 1", "SAM and SH3 domain containing 2", "hematopoietic adapter-containing SH3 and sterile &#945;-motif (SAM) domains 1", "Src homology domain 3 (SH3)-containing adapter protein SH3 lymphocyte protein 2"	607978				11536050, 11594764	Standard	NM_022136		Approved	NASH1, SASH2, SH3D6B, HACS1, SLy2	uc002yjv.1	Q9NSI8	OTTHUMG00000074317	ENST00000400566.1:c.280-1A>T	21.37:g.15884893T>A						SAMSN1_ENST00000400564.1_Intron|SAMSN1_ENST00000400566.1_Splice_Site_p.D94_splice	p.D162_splice	NM_001256370.1	NP_001243299.1	Q9NSI8	SAMN1_HUMAN		Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.00118)|Colorectal(24;0.00961)|Lung(58;0.164)	5	659	-			94					B3KWJ3|F8WAA1|Q8NFF7|Q9C041	Splice_Site	SNP	ENST00000400566.1	37	c.483_splice	CCDS42906.1	.	.	.	.	.	.	.	.	.	.	T	14.17	2.456559	0.43634	.	.	ENSG00000155307	ENST00000285670;ENST00000400566	T;T	0.42131	0.98;0.98	5.72	3.37	0.38596	.	0.740767	0.12951	N	0.425791	T	0.35008	0.0917	L	0.44542	1.39	0.42829	D	0.994018	P;P	0.41848	0.763;0.629	B;B	0.39771	0.293;0.309	T	0.02553	-1.1142	10	0.32370	T	0.25	-8.4809	9.8056	0.40791	0.0:0.1406:0.0:0.8594	.	162;94	F8WAA1;Q9NSI8	.;SAMN1_HUMAN	V	162;94	ENSP00000285670:D162V;ENSP00000383411:D94V	ENSP00000285670:D162V	D	-	2	0	SAMSN1	14806764	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	3.182000	0.50910	0.447000	0.26695	0.528000	0.53228	GAT		0.413	SAMSN1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157914.1		Missense_Mutation	55	146	0	0	0	0.870114	0	55	146					A	15884893	T	A	15884893	5	1	72	1	0	0	0	0	0	0	1	0	13830	1449	50	5	860	5	SAMSN1	21	15884893	Splice_Site	SNP	T	TCGA-EJ-5526-01A-01D-1576-08		15884893	32245002	31	3772											
MYO18B	84700	broad.mit.edu	37	chr22	26299697	26299697	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cctctctgggggaaaattgcGttgctggcttgaaggagagg	8	10	16	7	1	1	2	0	1	1	1	2	4	1	3	1	5	2	3	1	5	3	3	rs200295571		TCGA-EJ-5526-01A-01D-1576-08	TCGA-EJ-5526-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28436e84-7985-4676-a36c-4b18f064db9a	764d600c-bbe7-4996-8f5d-4ec9a3adc6af	g.chr22:26299697G>A	ENST00000407587.2	+	31	5219	c.5050G>A	c.(5050-5052)Gtt>Att	p.V1684I	MYO18B_ENST00000536204.1_3'UTR|CTA-125H2.2_ENST00000453457.3_RNA|CTA-125H2.2_ENST00000609157.1_RNA|MYO18B_ENST00000536101.1_Missense_Mutation_p.V1683I|CTA-125H2.2_ENST00000608257.1_RNA|CTA-125H2.2_ENST00000599080.1_RNA|CTA-125H2.2_ENST00000600211.1_RNA|CTA-125H2.2_ENST00000608115.1_RNA|CTA-125H2.2_ENST00000609275.1_RNA|MYO18B_ENST00000335473.7_Missense_Mutation_p.V1683I|CTA-125H2.2_ENST00000597284.1_RNA|CTA-125H2.2_ENST00000609889.1_RNA|CTA-125H2.2_ENST00000609570.1_RNA			Q8IUG5	MY18B_HUMAN	myosin XVIIIB	1683	Gln-rich.|Tail.					cytoplasm (GO:0005737)|nucleus (GO:0005634)|unconventional myosin complex (GO:0016461)	ATP binding (GO:0005524)|motor activity (GO:0003774)	p.V1684I(1)|p.V1683I(1)		NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						GGAAAATTGCGTTGCTGGCTT	0.552																																						ENST00000335473.7																			2	Substitution - Missense(2)	p.V1684I(1)|p.V1683I(1)	prostate(2)	NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						c.(5047-5049)Gtt>Att		myosin XVIIIB		G	ILE/VAL	0,3842		0,0,1921	44	50	48		5047	-2.3	0	22		48	2,8266		0,2,4132	yes	missense	MYO18B	NM_032608.5	29	0,2,6053	AA,AG,GG		0.0242,0.0,0.0165	benign	1683/2568	26299697	2,12108	1921	4134	6055	SO:0001583	missense	84700					nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity	g.chr22:26299697G>A	AJ310931	CCDS54507.1	22q12.1	2011-09-27			ENSG00000133454	ENSG00000133454		"Myosins / Myosin superfamily : Class XVIII"	18150	protein-coding gene	gene with protein product		607295				12209013, 12547197	Standard	NM_032608		Approved	BK125H2.1	uc003abz.1	Q8IUG5	OTTHUMG00000151129	ENST00000407587.2:c.5050G>A	22.37:g.26299697G>A	ENSP00000386096:p.Val1684Ile					MYO18B_ENST00000536101.1_Missense_Mutation_p.V1683I|MYO18B_ENST00000407587.2_Missense_Mutation_p.V1684I|MYO18B_ENST00000536204.1_3'UTR	p.V1683I	NM_032608.5	NP_115997.5	Q8IUG5	MY18B_HUMAN			31	5297	+			1683			Gln-rich.|Tail.		B2RWP3|F5GYU7|Q8NDI8|Q8TE65|Q8WWS0|Q96KH2|Q96KR8|Q96KR9	Missense_Mutation	SNP	ENST00000407587.2	37	c.5047G>A		.	.	.	.	.	.	.	.	.	.	G	5.137	0.210948	0.09757	0.0	2.42E-4	ENSG00000133454	ENST00000536101;ENST00000335473;ENST00000407587	D;D;D	0.86694	-2.14;-2.14;-2.16	4.74	-2.29	0.06805	.	0.398450	0.23448	N	0.048073	T	0.73102	0.3544	L	0.38175	1.15	0.09310	N	1	B;B;B;B	0.33826	0.161;0.166;0.427;0.255	B;B;B;B	0.23419	0.04;0.018;0.046;0.04	T	0.61955	-0.6956	10	0.16896	T	0.51	.	9.5074	0.39056	0.4698:0.0:0.5302:0.0	.	1196;1683;1684;1683	Q8IUG5-2;Q8IUG5;F5GXR6;F5GYU7	.;MY18B_HUMAN;.;.	I	1683;1683;1684	ENSP00000441229:V1683I;ENSP00000334563:V1683I;ENSP00000386096:V1684I	ENSP00000334563:V1683I	V	+	1	0	MYO18B	24629697	0.020000	0.18652	0.000000	0.03702	0.018000	0.09664	0.204000	0.17335	-0.497000	0.06641	-0.150000	0.13652	GTT		0.552	MYO18B-006	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000400691.1	NM_032608		11	13	0	0	0	0.38729	0	11	13					A	26299697	G	A	26299697	3	1	72	1	0	0	0	0	1	0	0	0	10066	1145	40	1	5165	1	MYO18B	22	26299697	Missense_Mutation	SNP	G	TCGA-EJ-5526-01A-01D-1576-08		26299697	25004869	32	3773											
FAM47B	170062	broad.mit.edu	37	chrX	34961794	34961794	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgatactggagcgtcccaTctctgcccggagcctcccga	6	8	10	17	3	1	1	0	1	1	0	4	4	3	3	5	2	4	0	5	2	1	1			TCGA-EJ-5526-01A-01D-1576-08	TCGA-EJ-5526-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28436e84-7985-4676-a36c-4b18f064db9a	764d600c-bbe7-4996-8f5d-4ec9a3adc6af	g.chrX:34961794T>C	ENST00000329357.5	+	1	882	c.846T>C	c.(844-846)caT>caC	p.H282H		NM_152631.2	NP_689844.2	Q8NA70	FA47B_HUMAN	family with sequence similarity 47, member B	282	Pro-rich.							p.H282H(2)		breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	71						GAGCGTCCCATCTCTGCCCGG	0.622																																						ENST00000329357.5																			2	Substitution - coding silent(2)	p.H282H(2)	prostate(2)	breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	71						c.(844-846)caT>caC		family with sequence similarity 47, member B							57	55	56					X																	34961794		2202	4300	6502	SO:0001819	synonymous_variant	170062							g.chrX:34961794T>C	BC035026	CCDS14236.1	Xp21.1	2004-08-09			ENSG00000189132	ENSG00000189132			26659	protein-coding gene	gene with protein product						14702039	Standard	NM_152631		Approved	FLJ35782	uc004ddi.2	Q8NA70	OTTHUMG00000021345	ENST00000329357.5:c.846T>C	X.37:g.34961794T>C							p.H282H	NM_152631.2	NP_689844.2	Q8NA70	FA47B_HUMAN			1	882	+			282			Pro-rich.		Q5JQN5|Q6PIG3	Silent	SNP	ENST00000329357.5	37	c.846T>C	CCDS14236.1																																																																																				0.622	FAM47B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056211.1	NM_152631		32	25	0	0	0	0.760397	0	32	25					C	34961794	T	C	34961794	2	2	72	1	0	0	0	0	0	0	0	1	5570	1432	50	4		4	FAM47B	23	34961794	Silent	SNP	T	TCGA-EJ-5526-01A-01D-1576-08		34961794	120308766	33	3774											
XK	7504	broad.mit.edu	37	chrX	37553558	37553558	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtgttttgaagtcttctgcAtctactttcagtcaggcaac	8	15	9	9	0	5	1	2	1	3	0	5	1	5	1	0	2	3	3	0	2	3	5			TCGA-EJ-5526-01A-01D-1576-08	TCGA-EJ-5526-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28436e84-7985-4676-a36c-4b18f064db9a	764d600c-bbe7-4996-8f5d-4ec9a3adc6af	g.chrX:37553558A>G	ENST00000378616.3	+	2	468	c.265A>G	c.(265-267)Atc>Gtc	p.I89V	TM4SF2_ENST00000465127.1_Intron	NM_021083.2	NP_066569.1	P51811	XK_HUMAN	X-linked Kx blood group	89					amino acid transport (GO:0006865)|transport (GO:0006810)	integral component of membrane (GO:0016021)	transporter activity (GO:0005215)	p.I89V(1)		breast(1)|endometrium(4)|large_intestine(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	15		all_lung(315;0.175)				AGTCTTCTGCATCTACTTTCA	0.408																																						ENST00000378616.3																			1	Substitution - Missense(1)	p.I89V(1)	prostate(1)	breast(1)|endometrium(4)|large_intestine(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	15						c.(265-267)Atc>Gtc		X-linked Kx blood group (McLeod syndrome)							76	62	67					X																	37553558		2202	4300	6502	SO:0001583	missense	7504				amino acid transport	integral to membrane	protein binding|transporter activity	g.chrX:37553558A>G	Z32684	CCDS14241.1	Xp21.1	2014-07-19	2014-06-18		ENSG00000047597	ENSG00000047597		"Blood group antigens"	12811	protein-coding gene	gene with protein product	"Kx antigen", "McLeod syndrome"	314850	"Kell blood group precursor (McLeod phenotype)", "XK, Kell blood group complex subunit (McLeod syndrome)", "neuroacanthocytosis", "neurocanthocytosis"	NA, NAC		8004674, 11761473	Standard	NM_021083		Approved	XKR1, Kx, X1k	uc004ddq.3	P51811	OTTHUMG00000033171	ENST00000378616.3:c.265A>G	X.37:g.37553558A>G	ENSP00000367879:p.Ile89Val					TM4SF2_ENST00000465127.1_Intron	p.I89V	NM_021083.2	NP_066569.1	P51811	XK_HUMAN			2	468	+		all_lung(315;0.175)	89					Q4TTN6|Q8IUK6|Q9UC77	Missense_Mutation	SNP	ENST00000378616.3	37	c.265A>G	CCDS14241.1	.	.	.	.	.	.	.	.	.	.	A	8.709	0.911691	0.17833	.	.	ENSG00000047597	ENST00000378616	T	0.62364	0.03	6.04	2.12	0.27331	.	0.046090	0.85682	D	0.000000	T	0.53658	0.1810	L	0.43152	1.355	0.53005	D	0.999967	B	0.25169	0.119	B	0.33392	0.163	T	0.34950	-0.9808	10	0.14656	T	0.56	-23.8592	13.2983	0.60311	0.5624:0.4376:0.0:0.0	.	89	P51811	XK_HUMAN	V	89	ENSP00000367879:I89V	ENSP00000367879:I89V	I	+	1	0	XK	37438497	1.000000	0.71417	0.998000	0.56505	0.987000	0.75469	3.388000	0.52509	-0.012000	0.14223	0.417000	0.27973	ATC		0.408	XK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080875.1	NM_021083		19	26	0	0	0	0.575678	0	19	26					G	37553558	A	G	37553558	3	3	72	1	0	0	0	0	1	0	0	0	17428	217	8	4	271	4	XK	23	37553558	Missense_Mutation	SNP	A	TCGA-EJ-5526-01A-01D-1576-08	2591764	37553558	117717002	34	3775											
CASZ1	54897	broad.mit.edu	37	chr1	10713982	10713982	+	Frame_Shift_Del	DEL	C	C	-																															cgtgctccgtgtccttggcgCccagcagcgagggcggcagc																										TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr1:10713982delC	ENST00000377022.3	-	11	2449	c.2132delG	c.(2131-2133)ggcfs	p.G711fs	RP4-734G22.3_ENST00000606802.1_RNA|CASZ1_ENST00000344008.5_Frame_Shift_Del_p.G711fs	NM_001079843.2	NP_001073312.1	Q86V15	CASZ1_HUMAN	castor zinc finger 1	711					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|large_intestine(13)|lung(18)|ovary(2)|prostate(5)|skin(2)|urinary_tract(1)	54	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)		GTCCTTGGCGCCCAGCAGCGA	0.662																																						ENST00000377022.3																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|large_intestine(13)|lung(18)|ovary(2)|prostate(5)|skin(2)|urinary_tract(1)	54						c.(2131-2133)gcfs		castor zinc finger 1							48	49	49					1																	10713982		2203	4300	6503	SO:0001589	frameshift_variant	54897				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding	g.chr1:10713982delC	AK000328	CCDS120.2, CCDS41246.1	1p36.22	2013-01-07	2007-02-02		ENSG00000130940	ENSG00000130940		"Zinc fingers, C2H2-type"	26002	protein-coding gene	gene with protein product	"zinc finger protein 693", "survival related gene"	609895	"castor homolog 1, zinc finger (Drosophila)"			16631614, 21252912	Standard	NM_001079843		Approved	FLJ20321, ZNF693, castor, cst, SRG	uc001aro.4	Q86V15	OTTHUMG00000002035	ENST00000377022.3:c.2132delG	1.37:g.10713982delC	ENSP00000366221:p.Gly711fs					RP4-734G22.3_ENST00000606802.1_RNA|CASZ1_ENST00000344008.5_Frame_Shift_Del_p.G711fs	p.G711fs	NM_001079843.1	NP_001073312.1	Q86V15	CASZ1_HUMAN	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)	11	2449	-	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	711					Q078S9|Q2EN02|Q5T9S1|Q6ZNM8|Q8WX49|Q8WX50|Q9BT16|Q9NXC6	Frame_Shift_Del	DEL	ENST00000377022.3	37	c.2132delG	CCDS41246.1																																																																																				0.662	CASZ1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005673.2	NM_017766		9	124						9	124	---	---	---	---	-	10713982	C	-	10713982	7	5	73	1	0	1	0	1	0	0	0	0	2685	739	26	0	3195	0	CASZ1	1	10713982	Frame_Shift_Del	DEL	C	TCGA-EJ-5527-01A-01D-1576-08		10713982	238536639	1	3776											
PLA2G2A	5320	broad.mit.edu	37	chr1	20304968	20304968	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcttcctttcctgtcgtcaaCttgatcattctgtggaaatt	7	17	7	10	1	3	1	2	1	1	0	6	2	5	2	2	1	1	1	2	1	2	5			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr1:20304968C>G	ENST00000375111.3	-	4	361	c.90G>C	c.(88-90)aaG>aaC	p.K30N	PLA2G2A_ENST00000496748.1_5'UTR|PLA2G2A_ENST00000400520.3_Missense_Mutation_p.K30N	NM_000300.3|NM_001161727.1	NP_000291.1|NP_001155199.1	P14555	PA2GA_HUMAN	phospholipase A2, group IIA (platelets, synovial fluid)	30					defense response to Gram-positive bacterium (GO:0050830)|glycerophospholipid biosynthetic process (GO:0046474)|lipid catabolic process (GO:0016042)|low-density lipoprotein particle remodeling (GO:0034374)|negative regulation of epithelial cell proliferation (GO:0050680)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidic acid metabolic process (GO:0046473)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid metabolic process (GO:0006644)|positive regulation of inflammatory response (GO:0050729)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|small molecule metabolic process (GO:0044281)|somatic stem cell maintenance (GO:0035019)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|secretory granule (GO:0030141)	calcium ion binding (GO:0005509)|calcium-dependent phospholipase A2 activity (GO:0047498)|phospholipase A2 activity (GO:0004623)|phospholipid binding (GO:0005543)	p.K30N(1)		central_nervous_system(1)|lung(6)|prostate(1)|stomach(1)	9		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00459)|Lung NSC(340;0.00475)|Breast(348;0.00526)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|COAD - Colon adenocarcinoma(152;1.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000138)|Kidney(64;0.000171)|GBM - Glioblastoma multiforme(114;0.00032)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	Diclofenac(DB00586)|Ginkgo biloba(DB01381)|Indomethacin(DB00328)|Suramin(DB04786)	CTGTCGTCAACTTGATCATTC	0.557																																						ENST00000375111.3																			1	Substitution - Missense(1)	p.K30N(1)	prostate(1)	central_nervous_system(1)|lung(6)|prostate(1)|stomach(1)	9						c.(88-90)aaG>aaC		phospholipase A2, group IIA (platelets, synovial fluid)							87	84	85					1																	20304968		2203	4300	6503	SO:0001583	missense	5320				defense response to Gram-positive bacterium|lipid catabolic process|low-density lipoprotein particle remodeling|phosphatidic acid metabolic process|positive regulation of inflammatory response|positive regulation of macrophage derived foam cell differentiation	endoplasmic reticulum|extracellular space|membrane	calcium ion binding|calcium-dependent phospholipase A2 activity|phospholipid binding	g.chr1:20304968C>G	BC005919	CCDS201.1	1p35	2008-09-19			ENSG00000188257	ENSG00000188257	3.1.1.4		9031	protein-coding gene	gene with protein product		172411		PLA2B, PLA2L		8838795	Standard	NM_000300		Approved		uc010odb.2	P14555	OTTHUMG00000002699	ENST00000375111.3:c.90G>C	1.37:g.20304968C>G	ENSP00000364252:p.Lys30Asn					PLA2G2A_ENST00000400520.3_Missense_Mutation_p.K30N|PLA2G2A_ENST00000496748.1_5'UTR	p.K30N	NM_000300.3|NM_001161727.1	NP_000291.1|NP_001155199.1	P14555	PA2GA_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|COAD - Colon adenocarcinoma(152;1.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000138)|Kidney(64;0.000171)|GBM - Glioblastoma multiforme(114;0.00032)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	4	361	-		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00459)|Lung NSC(340;0.00475)|Breast(348;0.00526)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)	30					A8K5I7|Q6DN24|Q6IBD9|Q9UCD2	Missense_Mutation	SNP	ENST00000375111.3	37	c.90G>C	CCDS201.1	.	.	.	.	.	.	.	.	.	.	C	13.58	2.279107	0.40294	.	.	ENSG00000188257	ENST00000400520;ENST00000375111	T;T	0.27720	1.65;1.65	5.07	-1.78	0.07957	Phospholipase A2 (3);	4.811600	0.00424	N	0.000073	T	0.34803	0.0910	M	0.63208	1.945	0.09310	N	1	P	0.39940	0.696	P	0.46208	0.507	T	0.17684	-1.0361	10	0.18710	T	0.47	.	3.3918	0.07291	0.2824:0.3661:0.0:0.3515	.	30	P14555	PA2GA_HUMAN	N	30	ENSP00000383364:K30N;ENSP00000364252:K30N	ENSP00000364252:K30N	K	-	3	2	PLA2G2A	20177555	0.000000	0.05858	0.000000	0.03702	0.080000	0.17528	-1.917000	0.01575	-0.221000	0.09973	0.462000	0.41574	AAG		0.557	PLA2G2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007675.1	NM_000300		12	61	0	0	0	0.00136819	0	12	61					G	20304968	C	G	20304968	3	3	73	1	0	0	0	0	1	0	0	0	11995	564	20	5	356	5	PLA2G2A	1	20304968	Missense_Mutation	SNP	C	TCGA-EJ-5527-01A-01D-1576-08	9590986	20304968	228945653	2	3777											
SPATA6	54558	broad.mit.edu	37	chr1	48865161	48865161	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tagggagatggagagtgtgaTtttgaagaaattgtaggctg	12	12	16	1	0	0	5	0	2	0	3	0	7	0	5	0	3	0	2	0	3	4	5	rs370483903		TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr1:48865161T>C	ENST00000371847.3	-	7	806	c.642A>G	c.(640-642)aaA>aaG	p.K214K	SPATA6_ENST00000371843.3_Silent_p.K214K|SPATA6_ENST00000463938.1_5'UTR|SPATA6_ENST00000396199.3_Silent_p.K142K	NM_019073.2	NP_061946.1	Q9NWH7	SPAT6_HUMAN	spermatogenesis associated 6	214					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	extracellular region (GO:0005576)		p.K214K(1)		breast(1)|endometrium(2)|large_intestine(6)|lung(7)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	21						GAGAGTGTGATTTTGAAGAAA	0.413																																						ENST00000371847.3																			1	Substitution - coding silent(1)	p.K214K(1)	prostate(1)	breast(1)|endometrium(2)|large_intestine(6)|lung(7)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	21						c.(640-642)aaA>aaG		spermatogenesis associated 6							267	272	270					1																	48865161		2203	4300	6503	SO:0001819	synonymous_variant	54558				cell differentiation|multicellular organismal development|spermatogenesis	extracellular region		g.chr1:48865161T>C	AK000869	CCDS551.1, CCDS65535.1, CCDS72787.1	1p32.3	2012-03-15			ENSG00000132122	ENSG00000132122			18309	protein-coding gene	gene with protein product	"spermatogenesis-related factor-1"	613947					Standard	XM_005270948		Approved	SRF1, FLJ10007, SRF-1	uc001crr.2	Q9NWH7	OTTHUMG00000007794	ENST00000371847.3:c.642A>G	1.37:g.48865161T>C						SPATA6_ENST00000396199.3_Silent_p.K142K|SPATA6_ENST00000371843.3_Silent_p.K214K|SPATA6_ENST00000463938.1_5'UTR	p.K214K	NM_019073.2	NP_061946.1	Q9NWH7	SPAT6_HUMAN			7	806	-			214					Q5T3N7|Q8WUE6	Silent	SNP	ENST00000371847.3	37	c.642A>G	CCDS551.1																																																																																				0.413	SPATA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021347.1	NM_019073		9	505	0	0	0	0.00448238	0	9	505					C	48865161	T	C	48865161	2	2	73	1	0	0	0	0	0	0	0	1	15012	1490	52	4		4	SPATA6	1	48865161	Silent	SNP	T	TCGA-EJ-5527-01A-01D-1576-08	28560193	48865161	200385460	3	3778											
ABCA4	24	broad.mit.edu	37	chr1	94508397	94508397	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggtgggttcgtccagaatcAccaccttggcatctcccaca	9	9	9	14	1	2	1	1	0	1	1	5	1	3	1	4	3	0	2	4	3	1	2			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr1:94508397A>G	ENST00000370225.3	-	22	3334	c.3248T>C	c.(3247-3249)gTg>gCg	p.V1083A		NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	1083	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				phospholipid transfer to membrane (GO:0006649)|photoreceptor cell maintenance (GO:0045494)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|photoreceptor disc membrane (GO:0097381)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|phospholipid-translocating ATPase activity (GO:0004012)|transporter activity (GO:0005215)	p.V1083A(1)		NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		GTCCAGAATCACCACCTTGGC	0.567																																						ENST00000370225.3																			1	Substitution - Missense(1)	p.V1083A(1)	prostate(1)	NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147						c.(3247-3249)gTg>gCg		ATP-binding cassette, sub-family A (ABC1), member 4							100	85	90					1																	94508397		2203	4300	6503	SO:0001583	missense	24				phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr1:94508397A>G	U88667	CCDS747.1	1p22	2013-01-23			ENSG00000198691	ENSG00000198691		"ATP binding cassette transporters / subfamily A"	34	protein-coding gene	gene with protein product	"Stargardt disease"	601691	"ATP-binding cassette transporter, retinal-specific"	STGD1, ABCR, RP19, STGD		9490294	Standard	NM_000350		Approved	FFM, ARMD2, CORD3	uc001dqh.3	P78363	OTTHUMG00000010622	ENST00000370225.3:c.3248T>C	1.37:g.94508397A>G	ENSP00000359245:p.Val1083Ala						p.V1083A	NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)	22	3334	-		all_lung(203;0.000757)|Lung NSC(277;0.00335)	1083			ABC transporter 1.		O15112|O60438|O60915|Q0QD48|Q4LE31	Missense_Mutation	SNP	ENST00000370225.3	37	c.3248T>C	CCDS747.1	.	.	.	.	.	.	.	.	.	.	A	29.4	5.005858	0.93287	.	.	ENSG00000198691	ENST00000370225	D	0.93712	-3.27	5.76	5.76	0.90799	ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.059813	0.64402	D	0.000003	D	0.94518	0.8235	M	0.71296	2.17	0.80722	D	1	P	0.50617	0.937	P	0.55749	0.783	D	0.95191	0.8308	10	0.87932	D	0	.	16.0796	0.80995	1.0:0.0:0.0:0.0	.	1083	P78363	ABCA4_HUMAN	A	1083	ENSP00000359245:V1083A	ENSP00000359245:V1083A	V	-	2	0	ABCA4	94280985	1.000000	0.71417	0.922000	0.36590	0.974000	0.67602	9.310000	0.96267	2.195000	0.70347	0.528000	0.53228	GTG		0.567	ABCA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029320.1	NM_000350		9	144	0	0	0	0.000442599	0	9	144					G	94508397	A	G	94508397	3	3	73	1	0	0	0	0	1	0	0	0	34	159	6	4	3689	4	ABCA4	1	94508397	Missense_Mutation	SNP	A	TCGA-EJ-5527-01A-01D-1576-08	45643236	94508397	154742224	4	3779											
HIPK1	204851	broad.mit.edu	37	chr1	114510461	114510461	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgctgactaaccatgtgacaTtggccactgctcagcctctg	8	11	9	13	0	2	2	1	2	1	0	2	2	2	2	3	1	4	2	3	1	1	2	rs376504628		TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr1:114510461T>C	ENST00000369558.1	+	12	2687	c.2455T>C	c.(2455-2457)Ttg>Ctg	p.L819L	HIPK1_ENST00000426820.2_Silent_p.L819L|HIPK1_ENST00000369559.4_Silent_p.L819L|HIPK1_ENST00000369553.1_Silent_p.L425L|HIPK1_ENST00000406344.1_Silent_p.L425L|HIPK1_ENST00000340480.4_Silent_p.L445L|HIPK1_ENST00000369561.4_Silent_p.L785L|HIPK1_ENST00000369555.2_Silent_p.L774L|HIPK1_ENST00000369554.2_Silent_p.L774L			Q86Z02	HIPK1_HUMAN	homeodomain interacting protein kinase 1	819					anterior/posterior pattern specification (GO:0009952)|definitive hemopoiesis (GO:0060216)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|endothelial cell apoptotic process (GO:0072577)|extrinsic apoptotic signaling pathway (GO:0097191)|eye development (GO:0001654)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|iris morphogenesis (GO:0061072)|lens induction in camera-type eye (GO:0060235)|neuron differentiation (GO:0030182)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell proliferation (GO:0008284)|regulation of transcription, DNA-templated (GO:0006355)|regulation of tumor necrosis factor-mediated signaling pathway (GO:0010803)|retina layer formation (GO:0010842)|smoothened signaling pathway (GO:0007224)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|PML body (GO:0016605)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.L819L(3)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|prostate(2)	39	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CCATGTGACATTGGCCACTGC	0.488																																						ENST00000369558.1																			3	Substitution - coding silent(3)	p.L819L(3)	prostate(3)	breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|prostate(2)	39						c.(2455-2457)Ttg>Ctg		homeodomain interacting protein kinase 1		T	,,,	3,4403	6.2+/-15.9	0,3,2200	191	157	169		2455,1273,2455,1333	-7.6	0	1		169	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	HIPK1	NM_152696.3,NM_181358.2,NM_198268.2,NM_198269.2	,,,	0,3,6500	CC,CT,TT		0.0,0.0681,0.0231	,,,	819/1076,425/817,819/1211,445/837	114510461	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	204851				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr1:114510461T>C	AB089957	CCDS867.1, CCDS868.1, CCDS869.1, CCDS41370.1	1p13.1	2008-02-05			ENSG00000163349	ENSG00000163349			19006	protein-coding gene	gene with protein product		608003					Standard	NM_198268		Approved	KIAA0630, Myak, MGC26642, Nbak2, MGC33446, MGC33548	uc001eem.3	Q86Z02	OTTHUMG00000011983	ENST00000369558.1:c.2455T>C	1.37:g.114510461T>C						HIPK1_ENST00000369553.1_Silent_p.L425L|HIPK1_ENST00000369554.2_Silent_p.L774L|HIPK1_ENST00000369555.2_Silent_p.L774L|HIPK1_ENST00000369559.4_Silent_p.L819L|HIPK1_ENST00000369561.4_Silent_p.L785L|HIPK1_ENST00000426820.2_Silent_p.L819L|HIPK1_ENST00000340480.4_Silent_p.L445L|HIPK1_ENST00000406344.1_Silent_p.L425L	p.L819L			Q86Z02	HIPK1_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	12	2687	+	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)	819					A6NJ34|O75125|Q5SQL2|Q5SQL4|Q5SQL5|Q8IYD7|Q8NDN5|Q8NEB6|Q8TBZ1	Silent	SNP	ENST00000369558.1	37	c.2455T>C	CCDS867.1	.	.	.	.	.	.	.	.	.	.	T	7.075	0.569058	0.13560	6.81E-4	0.0	ENSG00000163349	ENST00000361587	.	.	.	5.57	-7.64	0.01286	.	.	.	.	.	T	0.55146	0.1902	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.69480	-0.5134	4	.	.	.	.	19.7827	0.96424	0.0:0.6764:0.0:0.3236	.	.	.	.	T	99	.	.	I	+	2	0	HIPK1	114311984	0.000000	0.05858	0.001000	0.08648	0.893000	0.52053	-0.303000	0.08210	-2.112000	0.00835	-1.139000	0.01908	ATT		0.488	HIPK1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000033127.1	NM_198268		7	210	0	0	0	0.00198382	0	7	210					C	114510461	T	C	114510461	2	2	73	1	0	0	0	0	0	0	0	1	7116	1490	52	4		4	HIPK1	1	114510461	Silent	SNP	T	TCGA-EJ-5527-01A-01D-1576-08	20002064	114510461	134740160	5	3780											
FCRL4	83417	broad.mit.edu	37	chr1	157558993	157558993	+	Splice_Site	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctaattcaccttctttctcaCctgaagaaaagagcaagcgc	13	10	6	12	1	3	3	2	1	2	2	4	3	3	3	2	0	2	1	2	0	5	4	rs369715282		TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr1:157558993C>G	ENST00000271532.1	-	3	443		c.e3+1		FCRL4_ENST00000448509.2_Splice_Site	NM_031282.2	NP_112572.1	Q96PJ5	FCRL4_HUMAN	Fc receptor-like 4						immune system process (GO:0002376)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.?(1)		breast(2)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(20)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	40	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.245)				TTCTTTCTCACCTGAAGAAAA	0.493																																						ENST00000271532.1																			1	Unknown(1)	p.?(1)	prostate(1)	breast(2)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(20)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	40						c.e3+1		Fc receptor-like 4							56	62	60					1																	157558993		2203	4300	6503	SO:0001630	splice_region_variant	83417					integral to membrane|plasma membrane	receptor activity	g.chr1:157558993C>G	AF343661	CCDS1166.1	1q21	2013-01-14			ENSG00000163518	ENSG00000163518		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	18507	protein-coding gene	gene with protein product		605876				11290337, 11493702	Standard	NM_031282		Approved	FCRH4, IRTA1, IGFP2, CD307d	uc001fqw.3	Q96PJ5	OTTHUMG00000035488	ENST00000271532.1:c.307+1G>C	1.37:g.157558993C>G						FCRL4_ENST00000448509.2_Splice_Site		NM_031282.2	NP_112572.1	Q96PJ5	FCRL4_HUMAN			3	443	-	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.245)						Q96PJ3|Q96RE0	Splice_Site	SNP	ENST00000271532.1	37		CCDS1166.1	.	.	.	.	.	.	.	.	.	.	C	15.69	2.908885	0.52439	.	.	ENSG00000163518	ENST00000271532	.	.	.	4.2	2.26	0.28386	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.9094	0.13814	0.2098:0.6794:0.0:0.1107	.	.	.	.	.	-1	.	.	.	-	.	.	FCRL4	155825617	0.904000	0.30761	0.879000	0.34478	0.783000	0.44284	0.366000	0.20365	0.482000	0.27582	0.557000	0.71058	.		0.493	FCRL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086180.1	NM_031282	Intron	18	146	0	0	0	0.000958276	0	18	146					G	157558993	C	G	157558993	5	3	73	1	0	0	0	0	0	0	1	0	5797	521	18	5	1279	5	FCRL4	1	157558993	Splice_Site	SNP	C	TCGA-EJ-5527-01A-01D-1576-08	43048532	157558993	91691628	6	3781											
KIF21B	23046	broad.mit.edu	37	chr1	200978472	200978472	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcacacaggtggaatagatCtgttcttgccaggtgtccag	9	11	11	10	0	3	1	1	0	2	1	4	2	4	2	2	3	1	1	2	3	2	3			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr1:200978472C>A	ENST00000422435.2	-	2	502	c.186G>T	c.(184-186)caG>caT	p.Q62H	KIF21B_ENST00000360529.5_Missense_Mutation_p.Q62H|KIF21B_ENST00000332129.2_Missense_Mutation_p.Q62H|KIF21B_ENST00000461742.2_Missense_Mutation_p.Q62H	NM_001252100.1	NP_001239029.1	O75037	KI21B_HUMAN	kinesin family member 21B	62	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.Q62H(1)		autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						TGGAATAGATCTGTTCTTGCC	0.572																																						ENST00000332129.2																			1	Substitution - Missense(1)	p.Q62H(1)	prostate(1)	autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						c.(184-186)caG>caT		kinesin family member 21B							132	122	125					1																	200978472		2203	4300	6503	SO:0001583	missense	23046				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr1:200978472C>A	BC031927	CCDS30965.1, CCDS58054.1, CCDS58055.1, CCDS58056.1	1q32.1	2013-01-10			ENSG00000116852	ENSG00000116852		"Kinesins", "WD repeat domain containing"	29442	protein-coding gene	gene with protein product		608322				9455484	Standard	NM_001252100		Approved	DKFZP434J212, KIAA0449	uc001gvs.2	O75037	OTTHUMG00000035787	ENST00000422435.2:c.186G>T	1.37:g.200978472C>A	ENSP00000411831:p.Gln62His					KIF21B_ENST00000422435.2_Missense_Mutation_p.Q62H|KIF21B_ENST00000461742.2_Missense_Mutation_p.Q62H|KIF21B_ENST00000360529.5_Missense_Mutation_p.Q62H	p.Q62H	NM_001252102.1|NM_001252103.1|NM_017596.3	NP_001239031.1|NP_001239032.1|NP_060066.2	O75037	KI21B_HUMAN			2	502	-			62			Kinesin-motor.		B2RP62|B7ZMI0|Q5T4J3	Missense_Mutation	SNP	ENST00000422435.2	37	c.186G>T	CCDS58056.1	.	.	.	.	.	.	.	.	.	.	C	11.02	1.516598	0.27123	.	.	ENSG00000116852	ENST00000332129;ENST00000360529;ENST00000461742;ENST00000422435;ENST00000539858	T;T;T;T	0.75821	-0.97;-0.97;-0.97;-0.97	4.53	1.52	0.23074	Kinesin, motor domain (4);	0.378762	0.27759	N	0.017961	T	0.57902	0.2085	N	0.25485	0.75	0.35137	D	0.768488	B;B;B;B	0.06786	0.001;0.001;0.001;0.001	B;B;B;B	0.10450	0.003;0.003;0.005;0.002	T	0.58081	-0.7699	10	0.54805	T	0.06	.	7.7555	0.28921	0.0:0.6561:0.0:0.3439	.	62;62;62;62	B7ZMI0;B2RP62;O75037;O75037-2	.;.;KI21B_HUMAN;.	H	62	ENSP00000328494:Q62H;ENSP00000353724:Q62H;ENSP00000433808:Q62H;ENSP00000411831:Q62H	ENSP00000328494:Q62H	Q	-	3	2	KIF21B	199245095	1.000000	0.71417	0.986000	0.45419	0.795000	0.44927	0.903000	0.28475	0.513000	0.28278	0.650000	0.86243	CAG		0.572	KIF21B-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382635.1	XM_371332		11	99	1	0	3.86212e-05	0.000673444	0.000108557	11	99					A	200978472	C	A	200978472	3	1	73	1	0	0	0	0	1	0	0	0	8289	912	32	5	4820	5	KIF21B	1	200978472	Missense_Mutation	SNP	C	TCGA-EJ-5527-01A-01D-1576-08	43419479	200978472	48272149	7	3782											
IPO9	55705	broad.mit.edu	37	chr1	201836000	201836000	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgatggagaccctgtgcatcGtttgtacagtagaccccgaa	10	10	11	10	2	0	3	0	1	0	2	1	5	0	3	3	1	2	4	3	1	3	3			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr1:201836000G>A	ENST00000361565.4	+	15	1837	c.1768G>A	c.(1768-1770)Gtt>Att	p.V590I		NM_018085.4	NP_060555.2	Q96P70	IPO9_HUMAN	importin 9	590					protein import into nucleus (GO:0006606)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	histone binding (GO:0042393)|protein transporter activity (GO:0008565)			cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	38						CCTGTGCATCGTTTGTACAGT	0.517																																						ENST00000361565.4																			0				cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	38						c.(1768-1770)Gtt>Att		importin 9							168	151	157					1																	201836000		2203	4300	6503	SO:0001583	missense	55705				protein import into nucleus	cytoplasm|nucleus	histone binding|protein transporter activity	g.chr1:201836000G>A	AF410465	CCDS1415.1	1q31.3	2008-02-05			ENSG00000198700	ENSG00000198700		"Importins"	19425	protein-coding gene	gene with protein product						11823430, 10574461	Standard	NM_018085		Approved	Imp9, FLJ10402	uc001gwz.3	Q96P70	OTTHUMG00000035805	ENST00000361565.4:c.1768G>A	1.37:g.201836000G>A	ENSP00000354742:p.Val590Ile						p.V590I	NM_018085.4	NP_060555.2	Q96P70	IPO9_HUMAN			15	1837	+			590					B1ASV5|Q8N1Y1|Q8N3I2|Q8NCG9|Q96SU6|Q9NW01|Q9P0A8|Q9ULM8	Missense_Mutation	SNP	ENST00000361565.4	37	c.1768G>A	CCDS1415.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.150154	0.78001	.	.	ENSG00000198700	ENST00000361565	T	0.62364	0.03	6.03	6.03	0.97812	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.49508	0.1561	L	0.43152	1.355	0.80722	D	1	P	0.45715	0.865	B	0.29176	0.099	T	0.51364	-0.8715	10	0.25106	T	0.35	-8.301	18.0507	0.89347	0.0:0.0:1.0:0.0	.	590	Q96P70	IPO9_HUMAN	I	590	ENSP00000354742:V590I	ENSP00000354742:V590I	V	+	1	0	IPO9	200102623	1.000000	0.71417	0.995000	0.50966	0.998000	0.95712	9.339000	0.96797	2.861000	0.98227	0.655000	0.94253	GTT		0.517	IPO9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087088.1	NM_018085		6	290	0	0	0	0.00198382	0	6	290					A	201836000	G	A	201836000	3	1	73	1	0	0	0	0	1	0	0	0	7799	1145	40	1	1826	1	IPO9	1	201836000	Missense_Mutation	SNP	G	TCGA-EJ-5527-01A-01D-1576-08	857528	201836000	47414621	8	3783											
TRAF3IP3	80342	broad.mit.edu	37	chr1	209953928	209953928	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agctgcaaaagaagactttgCagctccaggccaaggaaaag	16	5	11	9	0	0	2	0	0	0	2	1	3	1	3	2	2	4	4	2	2	6	1			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr1:209953928C>T	ENST00000367024.1	+	15	1942	c.1426C>T	c.(1426-1428)Cag>Tag	p.Q476*	TRAF3IP3_ENST00000010338.4_Nonsense_Mutation_p.Q456*|TRAF3IP3_ENST00000367026.3_Nonsense_Mutation_p.Q456*|TRAF3IP3_ENST00000477431.1_Intron|TRAF3IP3_ENST00000367025.3_Nonsense_Mutation_p.Q476*			Q9Y228	T3JAM_HUMAN	TRAF3 interacting protein 3	476						integral component of membrane (GO:0016021)				breast(2)|endometrium(1)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32				OV - Ovarian serous cystadenocarcinoma(81;0.045)		GAAGACTTTGCAGCTCCAGGC	0.527																																						ENST00000367024.1																			0				breast(2)|endometrium(1)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32						c.(1426-1428)Cag>Tag		TRAF3 interacting protein 3							75	77	76					1																	209953928		2203	4300	6503	SO:0001587	stop_gained	80342					integral to membrane	protein binding	g.chr1:209953928C>T		CCDS1490.1, CCDS1490.2, CCDS73023.1	1q32.3-q41	2008-02-05			ENSG00000009790	ENSG00000009790			30766	protein-coding gene	gene with protein product	"TRAF3 interacting Jun N terminal kinase (JNK) activating modulator"	608255				14572659	Standard	XR_247044		Approved	T3JAM	uc001hho.3	Q9Y228	OTTHUMG00000036480	ENST00000367024.1:c.1426C>T	1.37:g.209953928C>T	ENSP00000355991:p.Gln476*					TRAF3IP3_ENST00000477431.1_Intron|TRAF3IP3_ENST00000367025.3_Nonsense_Mutation_p.Q476*|TRAF3IP3_ENST00000367026.3_Nonsense_Mutation_p.Q456*|TRAF3IP3_ENST00000010338.4_Nonsense_Mutation_p.Q456*	p.Q476*			Q9Y228	T3JAM_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.045)	15	1942	+			476					A1L464|A6NIU9|Q2YDB5|Q4VY06|Q7Z706	Nonsense_Mutation	SNP	ENST00000367024.1	37	c.1426C>T	CCDS1490.2	.	.	.	.	.	.	.	.	.	.	C	43	10.156841	0.99349	.	.	ENSG00000009790	ENST00000367025;ENST00000367026;ENST00000367024;ENST00000010338	.	.	.	5.24	5.24	0.73138	.	0.000000	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	-11.8775	15.9926	0.80217	0.0:1.0:0.0:0.0	.	.	.	.	X	476;456;476;456	.	ENSP00000010338:Q456X	Q	+	1	0	TRAF3IP3	208020551	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.894000	0.48640	2.422000	0.82143	0.655000	0.94253	CAG		0.527	TRAF3IP3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088734.2			4	125	0	0	0	0.00024832	0	4	125					T	209953928	C	T	209953928	4	4	73	1	0	0	0	0	0	1	0	0	16439	711	25	3	1476	3	TRAF3IP3	1	209953928	Nonsense_Mutation	SNP	C	TCGA-EJ-5527-01A-01D-1576-08	8117928	209953928	39296693	9	3784											
MAL	4118	broad.mit.edu	37	chr2	95713710	95713710	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctcctcccccgcagatcttcGggggcctggtgtggatcctg	3	10	13	15	2	1	1	0	0	1	1	5	2	4	2	5	4	0	1	5	4	0	1			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr2:95713710G>A	ENST00000309988.4	+	2	209	c.100G>A	c.(100-102)Ggg>Agg	p.G34R	MAL_ENST00000349807.3_Intron|MAL_ENST00000353004.3_Missense_Mutation_p.G34R|MAL_ENST00000354078.3_Intron	NM_002371.3	NP_002362.1	P21145	MAL_HUMAN	mal, T-cell differentiation protein	34	MARVEL. {ECO:0000255|PROSITE- ProRule:PRU00581}.				apical protein localization (GO:0045176)|apoptotic process (GO:0006915)|cell differentiation (GO:0030154)|central nervous system development (GO:0007417)|membrane raft polarization (GO:0001766)|myelination (GO:0042552)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extrinsic component of membrane (GO:0019898)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)	channel activity (GO:0015267)|lipid binding (GO:0008289)|peptidase activator activity involved in apoptotic process (GO:0016505)|structural constituent of myelin sheath (GO:0019911)	p.G34R(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|prostate(2)	10				STAD - Stomach adenocarcinoma(1183;0.18)		GCAGATCTTCGGGGGCCTGGT	0.667																																						ENST00000309988.4																			1	Substitution - Missense(1)	p.G34R(1)	prostate(1)	endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|prostate(2)	10						c.(100-102)Ggg>Agg		mal, T-cell differentiation protein							45	44	44					2																	95713710		2203	4300	6503	SO:0001583	missense	4118				apical protein localization|cell differentiation|central nervous system development|induction of apoptosis|membrane raft polarization|myelination	apical plasma membrane|endoplasmic reticulum|endosome|integral to plasma membrane|membrane raft	apoptotic protease activator activity|channel activity|lipid binding|structural constituent of myelin sheath	g.chr2:95713710G>A		CCDS2006.1, CCDS2007.1, CCDS2008.1, CCDS2009.1	2q11.1	2008-07-29			ENSG00000172005	ENSG00000172005			6817	protein-coding gene	gene with protein product		188860					Standard	NM_002371		Approved		uc002stx.2	P21145	OTTHUMG00000132011	ENST00000309988.4:c.100G>A	2.37:g.95713710G>A	ENSP00000310880:p.Gly34Arg					MAL_ENST00000353004.3_Missense_Mutation_p.G34R|MAL_ENST00000349807.3_Intron|MAL_ENST00000354078.3_Intron	p.G34R	NM_002371.3	NP_002362.1	P21145	MAL_HUMAN		STAD - Stomach adenocarcinoma(1183;0.18)	2	209	+			34			MARVEL.		Q6FH77	Missense_Mutation	SNP	ENST00000309988.4	37	c.100G>A	CCDS2006.1	.	.	.	.	.	.	.	.	.	.	G	32	5.138719	0.94560	.	.	ENSG00000172005	ENST00000309988;ENST00000353004	T;T	0.81078	1.62;-1.45	5.77	5.77	0.91146	Marvel (1);MARVEL-like domain (1);	0.000000	0.85682	D	0.000000	D	0.91653	0.7362	M	0.91972	3.26	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.92955	0.6384	10	0.87932	D	0	.	15.4962	0.75653	0.0:0.0:1.0:0.0	.	34;34	P21145-2;P21145	.;MAL_HUMAN	R	34	ENSP00000310880:G34R;ENSP00000306568:G34R	ENSP00000310880:G34R	G	+	1	0	MAL	95077437	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	8.825000	0.92029	2.744000	0.94065	0.561000	0.74099	GGG		0.667	MAL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254982.3	NM_002371		26	60	0	0	0	0.001512	0	26	60					A	95713710	G	A	95713710	3	1	73	1	0	0	0	0	1	0	0	0	9199	1116	39	2	106	2	MAL	2	95713710	Missense_Mutation	SNP	G	TCGA-EJ-5527-01A-01D-1576-08		95713710	147485663	10	3785											
XIRP2	129446	broad.mit.edu	37	chr2	168099282	168099282	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcccccacctgacgtactTcaaacttcagtagatgtgac	10	10	6	15	1	2	3	2	2	0	1	3	3	3	3	4	0	2	2	4	0	3	4	rs371638628		TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr2:168099282T>G	ENST00000409195.1	+	9	1469	c.1380T>G	c.(1378-1380)ctT>ctG	p.L460L	XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409273.1_Silent_p.L238L|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000295237.9_Silent_p.L460L	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	285					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)		p.L460L(1)		NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						CTGACGTACTTCAAACTTCAG	0.448																																						ENST00000409195.1																			1	Substitution - coding silent(1)	p.L460L(1)	prostate(1)	NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						c.(1378-1380)ctT>ctG		xin actin-binding repeat containing 2							86	81	83					2																	168099282		1913	4118	6031	SO:0001819	synonymous_variant	129446				actin cytoskeleton organization	cell junction	actin binding	g.chr2:168099282T>G	AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"myomaxin"	609778	"cardiomyopathy associated 3"	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409195.1:c.1380T>G	2.37:g.168099282T>G						XIRP2_ENST00000409273.1_Silent_p.L238L|XIRP2_ENST00000295237.9_Silent_p.L460L|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000420519.1_Intron	p.L460L	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN			9	1469	+			285					A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Silent	SNP	ENST00000409195.1	37	c.1380T>G	CCDS42769.1																																																																																				0.448	XIRP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333547.1	NM_152381		24	188	0	0	0	0.00395357	0	24	188					G	168099282	T	G	168099282	2	3	73	1	0	0	0	0	0	0	0	1	17427	1770	62	5		5	XIRP2	2	168099282	Silent	SNP	T	TCGA-EJ-5527-01A-01D-1576-08	72385572	168099282	75100091	11	3786											
CCNYL1	151195	broad.mit.edu	37	chr2	208618360	208618362	+	In_Frame_Del	DEL	AGA	AGA	-																															acttgtgtagagccgctatgAgaaggtctttcagtgctgat																										TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr2:208618360_208618362delAGA	ENST00000295414.3	+	10	1229_1231	c.1018_1020delAGA	c.(1018-1020)agadel	p.R341del	CCNYL1_ENST00000392209.3_In_Frame_Del_p.R271del|CCNYL1_ENST00000468768.1_3'UTR|CCNYL1_ENST00000339882.5_In_Frame_Del_p.R290del|MIR4775_ENST00000581168.1_RNA|RP11-801F7.1_ENST00000609146.1_RNA			Q8N7R7	CCYL1_HUMAN	cyclin Y-like 1	341					regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)					endometrium(1)|large_intestine(1)|lung(3)	5				LUSC - Lung squamous cell carcinoma(261;0.0731)|Epithelial(149;0.139)|Lung(261;0.14)		AGCCGCTATGAGAAGGTCTTTCA	0.404																																						ENST00000295414.3																			0				endometrium(1)|large_intestine(1)|lung(3)	5						c.(1018-1020)del		cyclin Y-like 1																																				SO:0001651	inframe_deletion	151195				regulation of cyclin-dependent protein kinase activity		protein kinase binding	g.chr2:208618360_208618362delAGA	AK095479	CCDS2377.1, CCDS46503.1	2q33.3	2008-02-05			ENSG00000163249	ENSG00000163249			26868	protein-coding gene	gene with protein product							Standard	NM_152523		Approved	FLJ40432	uc002vci.3	Q8N7R7	OTTHUMG00000132946	ENST00000295414.3:c.1018_1020delAGA	2.37:g.208618360_208618362delAGA	ENSP00000295414:p.Arg341del					CCNYL1_ENST00000339882.5_In_Frame_Del_p.R290del|CCNYL1_ENST00000392209.3_In_Frame_Del_p.R271del|CCNYL1_ENST00000468768.1_3'UTR	p.R341del			Q8N7R7	CCYL1_HUMAN		LUSC - Lung squamous cell carcinoma(261;0.0731)|Epithelial(149;0.139)|Lung(261;0.14)	10	1229_1231	+			341					Q6NX60	In_Frame_Del	DEL	ENST00000295414.3	37	c.1018_1020delAGA																																																																																					0.404	CCNYL1-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000337062.1	NM_152523		72	356						72	356	---	---	---	---	-	208618362	AGA	-	208618360	7	5	73	1	0	1	0	1	0	0	0	0	2937	296	11	0	1056	0	CCNYL1	2	208618360	In_Frame_Del	DEL	AGA	TCGA-EJ-5527-01A-01D-1576-08	40519078	208618360	34581013	12	3787											
DOCK10	55619	broad.mit.edu	37	chr2	225670001	225670001	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttgatctaacttgtcaaatcGaagagttgagccaatcaaag	15	11	8	7	1	3	3	2	2	1	1	4	4	3	3	1	0	2	1	1	0	5	4			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr2:225670001G>A	ENST00000258390.7	-	36	4040	c.3973C>T	c.(3973-3975)Cga>Tga	p.R1325*	DOCK10_ENST00000409592.3_Nonsense_Mutation_p.R1319*	NM_014689.2	NP_055504.2	Q96BY6	DOC10_HUMAN	dedicator of cytokinesis 10	1325					regulation of cell migration (GO:0030334)|small GTPase mediated signal transduction (GO:0007264)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	87		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)		TTGTCAAATCGAAGAGTTGAG	0.398																																						ENST00000409592.3																			0				NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	87						c.(3955-3957)Cga>Tga		dedicator of cytokinesis 10							143	136	138					2																	225670001		1874	4095	5969	SO:0001587	stop_gained	55619						GTP binding	g.chr2:225670001G>A	AB014594	CCDS46528.1, CCDS74661.1	2q36.3	2013-01-10			ENSG00000135905	ENSG00000135905		"Pleckstrin homology (PH) domain containing"	23479	protein-coding gene	gene with protein product	"zizimin3"	611518				12432077	Standard	NM_014689		Approved	ZIZ3, KIAA0694	uc010fwz.1	Q96BY6	OTTHUMG00000153428	ENST00000258390.7:c.3973C>T	2.37:g.225670001G>A	ENSP00000258390:p.Arg1325*					DOCK10_ENST00000258390.7_Nonsense_Mutation_p.R1325*	p.R1319*			Q96BY6	DOC10_HUMAN		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)	36	4068	-		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)	1325					B3FL70|O75178|Q9NW06|Q9NXI8	Nonsense_Mutation	SNP	ENST00000258390.7	37	c.3955C>T	CCDS46528.1	.	.	.	.	.	.	.	.	.	.	G	36	5.929490	0.97116	.	.	ENSG00000135905	ENST00000409592;ENST00000258390	.	.	.	5.74	4.81	0.61882	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	16.7301	0.85432	0.0:0.0:0.8705:0.1295	.	.	.	.	X	1319;1325	.	ENSP00000258390:R1325X	R	-	1	2	DOCK10	225378245	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	7.234000	0.78134	2.873000	0.98535	0.561000	0.74099	CGA		0.398	DOCK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331246.1			7	337	0	0	0	0.00307968	0	7	337					A	225670001	G	A	225670001	4	1	73	1	0	0	0	0	0	1	0	0	4685	1066	37	2	2671	2	DOCK10	2	225670001	Nonsense_Mutation	SNP	G	TCGA-EJ-5527-01A-01D-1576-08	17051641	225670001	17529372	13	3788											
TRIP12	9320	broad.mit.edu	37	chr2	230657838	230657838	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgttgaaaaattttaaagccTgtgatcctctgttgagagaa	13	14	9	5	0	1	4	0	3	1	1	2	5	2	4	2	0	1	2	2	0	5	4			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr2:230657838T>C	ENST00000283943.5	-	26	3945	c.3767A>G	c.(3766-3768)cAg>cGg	p.Q1256R	TRIP12_ENST00000389044.4_Missense_Mutation_p.Q1304R|TRIP12_ENST00000389045.3_Missense_Mutation_p.Q986R	NM_001284214.1|NM_004238.1	NP_001271143.1|NP_004229.1	Q14669	TRIPC_HUMAN	thyroid hormone receptor interactor 12	1256					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|embryo development (GO:0009790)|negative regulation of double-strand break repair (GO:2000780)|negative regulation of histone H2A K63-linked ubiquitination (GO:1901315)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligase activity (GO:0016874)|thyroid hormone receptor binding (GO:0046966)|ubiquitin-protein transferase activity (GO:0004842)	p.Q1256R(1)		breast(2)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(19)|lung(32)|ovary(5)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)		TTTTAAAGCCTGTGATCCTCT	0.328																																						ENST00000283943.5																			1	Substitution - Missense(1)	p.Q1256R(1)	prostate(1)	breast(2)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(19)|lung(32)|ovary(5)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						c.(3766-3768)cAg>cGg		thyroid hormone receptor interactor 12							68	71	70					2																	230657838		2203	4300	6503	SO:0001583	missense	9320				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	proteasome complex	thyroid hormone receptor binding|ubiquitin-protein ligase activity	g.chr2:230657838T>C	L40383	CCDS33391.1, CCDS63145.1, CCDS63146.1	2q36.3	2008-05-27			ENSG00000153827	ENSG00000153827			12306	protein-coding gene	gene with protein product		604506				7776974	Standard	XM_005246961		Approved	KIAA0045	uc002vpw.1	Q14669	OTTHUMG00000153623	ENST00000283943.5:c.3767A>G	2.37:g.230657838T>C	ENSP00000283943:p.Gln1256Arg					TRIP12_ENST00000389045.3_Missense_Mutation_p.Q986R|TRIP12_ENST00000389044.4_Missense_Mutation_p.Q1304R	p.Q1256R	NM_004238.1	NP_004229.1	Q14669	TRIPC_HUMAN		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)	26	3945	-		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)	1256					D4HL82|Q14CA3|Q14CF1|Q15644|Q53R87|Q53TE7	Missense_Mutation	SNP	ENST00000283943.5	37	c.3767A>G	CCDS33391.1	.	.	.	.	.	.	.	.	.	.	T	25.6	4.657562	0.88154	.	.	ENSG00000153827	ENST00000283943;ENST00000389045;ENST00000389044	T;T;T	0.47528	0.84;1.13;0.84	5.6	5.6	0.85130	.	0.000000	0.85682	D	0.000000	T	0.56934	0.2019	L	0.50333	1.59	0.80722	D	1	P;D;P	0.54601	0.851;0.967;0.851	P;P;P	0.55391	0.775;0.696;0.775	T	0.54549	-0.8277	10	0.36615	T	0.2	.	15.7974	0.78423	0.0:0.0:0.0:1.0	.	986;1304;1256	Q14CF1;Q14CA3;Q14669	.;.;TRIPC_HUMAN	R	1256;986;1304	ENSP00000283943:Q1256R;ENSP00000373697:Q986R;ENSP00000373696:Q1304R	ENSP00000283943:Q1256R	Q	-	2	0	TRIP12	230366082	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.572000	0.82409	2.115000	0.64714	0.528000	0.53228	CAG		0.328	TRIP12-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000331861.3	NM_004238		16	119	0	0	0	0.00316338	0	16	119					C	230657838	T	C	230657838	3	2	73	1	0	0	0	0	1	0	0	0	16553	1580	55	4	2275	4	TRIP12	2	230657838	Missense_Mutation	SNP	T	TCGA-EJ-5527-01A-01D-1576-08	4987837	230657838	12541535	14	3789											
OXSM	54995	broad.mit.edu	37	chr3	25833004	25833004	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aagttgtttctgaaactgctTtgaattttcagacaaaaggt	13	15	8	5	0	2	3	1	2	1	1	2	3	2	3	0	1	2	3	0	1	5	5			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr3:25833004T>C	ENST00000280701.3	+	2	592	c.493T>C	c.(493-495)Ttg>Ctg	p.L165L	NGLY1_ENST00000417874.2_5'Flank|OXSM_ENST00000420173.2_Silent_p.L165L|OXSM_ENST00000449808.1_Intron	NM_017897.2	NP_060367.1	Q9NWU1	OXSM_HUMAN	3-oxoacyl-ACP synthase, mitochondrial	165					acyl-CoA metabolic process (GO:0006637)|medium-chain fatty acid biosynthetic process (GO:0051792)|short-chain fatty acid biosynthetic process (GO:0051790)	mitochondrion (GO:0005739)	3-oxoacyl-[acyl-carrier-protein] synthase activity (GO:0004315)	p.L165L(1)		breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	25						TGAAACTGCTTTGAATTTTCA	0.423																																						ENST00000280701.3																			1	Substitution - coding silent(1)	p.L165L(1)	prostate(1)	breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	25						c.(493-495)Ttg>Ctg		3-oxoacyl-ACP synthase, mitochondrial							96	100	99					3																	25833004		2203	4300	6503	SO:0001819	synonymous_variant	54995				acyl-CoA metabolic process|medium-chain fatty acid biosynthetic process|short-chain fatty acid biosynthetic process	mitochondrion	3-oxoacyl-[acyl-carrier-protein] synthase activity	g.chr3:25833004T>C	BC008202	CCDS2643.1, CCDS46780.1	3p24.2	2010-03-19			ENSG00000151093	ENSG00000151093	2.3.1.41		26063	protein-coding gene	gene with protein product	"beta-ketoacyl synthase"	610324				12477932	Standard	NM_017897		Approved	KS, FLJ20604, FASN2D	uc003cdn.3	Q9NWU1	OTTHUMG00000130477	ENST00000280701.3:c.493T>C	3.37:g.25833004T>C						OXSM_ENST00000420173.2_Silent_p.L165L|OXSM_ENST00000449808.1_Intron	p.L165L	NM_017897.2	NP_060367.1	Q9NWU1	OXSM_HUMAN			2	592	+			165						Silent	SNP	ENST00000280701.3	37	c.493T>C	CCDS2643.1																																																																																				0.423	OXSM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252876.2	NM_017897		29	268	0	0	0	0.00178596	0	29	268					C	25833004	T	C	25833004	2	2	73	1	0	0	0	0	0	0	0	1	11335	1838	64	4		4	OXSM	3	25833004	Silent	SNP	T	TCGA-EJ-5527-01A-01D-1576-08		25833004	172189426	15	3790											
LRRFIP2	9209	broad.mit.edu	37	chr3	37125219	37125219	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgtgtctacttggtagatcaAattgttcttctcattgtcta	8	19	7	7	0	5	1	2	0	4	1	6	1	5	1	0	1	1	2	0	1	4	8			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr3:37125219A>G	ENST00000336686.4	-	19	1266	c.1186T>C	c.(1186-1188)Ttg>Ctg	p.L396L	LRRFIP2_ENST00000440230.1_Silent_p.L164L|LRRFIP2_ENST00000421276.2_Silent_p.L164L|LRRFIP2_ENST00000396428.2_Silent_p.L212L|LRRFIP2_ENST00000421307.1_Silent_p.L396L|LRRFIP2_ENST00000354379.4_Silent_p.L140L			Q9Y608	LRRF2_HUMAN	leucine rich repeat (in FLII) interacting protein 2	396					Wnt signaling pathway (GO:0016055)		LRR domain binding (GO:0030275)	p.L396L(1)|p.0?(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22						TGGTAGATCAAATTGTTCTTC	0.353																																						ENST00000421307.1																			2	Whole gene deletion(1)|Substitution - coding silent(1)	p.L396L(1)|p.0?(1)	ovary(1)|prostate(1)	breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22						c.(1186-1188)Ttg>Ctg		leucine rich repeat (in FLII) interacting protein 2							201	192	195					3																	37125219		2203	4300	6503	SO:0001819	synonymous_variant	9209				Wnt receptor signaling pathway		LRR domain binding	g.chr3:37125219A>G	AF115509	CCDS2664.1, CCDS2665.1, CCDS46791.1, CCDS63592.1	3p22.1	2008-07-18			ENSG00000093167	ENSG00000093167			6703	protein-coding gene	gene with protein product		614043				10366446	Standard	NM_017724		Approved	HUFI-2	uc003cgp.2	Q9Y608	OTTHUMG00000130796	ENST00000336686.4:c.1186T>C	3.37:g.37125219A>G						LRRFIP2_ENST00000336686.4_Silent_p.L396L|LRRFIP2_ENST00000440230.1_Silent_p.L164L|LRRFIP2_ENST00000421276.2_Silent_p.L164L|LRRFIP2_ENST00000354379.4_Silent_p.L140L|LRRFIP2_ENST00000396428.2_Silent_p.L212L	p.L396L	NM_006309.2	NP_006300.1	Q9Y608	LRRF2_HUMAN			20	1608	-			396					A8K649|A8MXR0|B4DY63|Q68CV3|Q9NXH5	Silent	SNP	ENST00000336686.4	37	c.1186T>C	CCDS2664.1	.	.	.	.	.	.	.	.	.	.	A	10.19	1.283280	0.23392	.	.	ENSG00000093167	ENST00000440742	.	.	.	5.78	0.213	0.15244	.	.	.	.	.	T	0.55705	0.1937	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.48514	-0.9029	4	.	.	.	-11.0143	9.2501	0.37549	0.6723:0.0:0.3277:0.0	.	.	.	.	S	8	.	.	F	-	2	0	LRRFIP2	37100223	1.000000	0.71417	0.999000	0.59377	0.993000	0.82548	2.326000	0.43849	0.027000	0.15297	0.459000	0.35465	TTT		0.353	LRRFIP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000253335.3	NM_006309		58	207	0	0	0	0.00361006	0	58	207					G	37125219	A	G	37125219	2	3	73	1	0	0	0	0	0	0	0	1	9028	11	1	4		4	LRRFIP2	3	37125219	Silent	SNP	A	TCGA-EJ-5527-01A-01D-1576-08	11292215	37125219	160897211	16	3791											
CCDC13	152206	broad.mit.edu	37	chr3	42784452	42784452	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcaggtttttctcctgtgccGacagcttccttgggtctgga	4	14	12	11	1	2	0	0	0	2	0	4	2	3	1	3	3	2	3	3	3	0	4	rs143310118	byFrequency	TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr3:42784452G>A	ENST00000310232.6	-	8	1006	c.923C>T	c.(922-924)tCg>tTg	p.S308L	CCDC13-AS1_ENST00000446950.1_RNA|CCDC13-AS1_ENST00000418161.1_RNA	NM_144719.3	NP_653320.3	Q8IYE1	CCD13_HUMAN	coiled-coil domain containing 13	308								p.S308L(1)		endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(11)|ovary(1)|prostate(3)|skin(1)|urinary_tract(1)	25						CTCCTGTGCCGACAGCTTCCT	0.572													G|||	11	0.00219649	0	0	5008	,	,		19055	0.0109		0	False		,,,				2504	0					ENST00000310232.6																			1	Substitution - Missense(1)	p.S308L(1)	prostate(1)	endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(11)|ovary(1)|prostate(3)|skin(1)|urinary_tract(1)	25						c.(922-924)tCg>tTg		coiled-coil domain containing 13		G	LEU/SER	0,4406		0,0,2203	143	140	141		923	4.7	0.9	3	dbSNP_134	141	1,8599	1.2+/-3.3	0,1,4299	yes	missense	CCDC13	NM_144719.3	145	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging	308/716	42784452	1,13005	2203	4300	6503	SO:0001583	missense	152206							g.chr3:42784452G>A	AK058196	CCDS2705.1	3p22.1	2005-01-25			ENSG00000244607	ENSG00000244607			26358	protein-coding gene	gene with protein product						12477932	Standard	NM_144719		Approved	FLJ25467	uc003cly.4	Q8IYE1	OTTHUMG00000133046	ENST00000310232.6:c.923C>T	3.37:g.42784452G>A	ENSP00000309836:p.Ser308Leu					CCDC13-AS1_ENST00000446950.1_RNA|CCDC13-AS1_ENST00000418161.1_RNA	p.S308L	NM_144719.3	NP_653320.3	Q8IYE1	CCD13_HUMAN			8	1006	-			308						Missense_Mutation	SNP	ENST00000310232.6	37	c.923C>T	CCDS2705.1	6	0.0027472527472527475	0	0.0	0	0.0	6	0.01048951048951049	0	0.0	G	21.9	4.213383	0.79352	0.0	1.16E-4	ENSG00000244607	ENST00000310232	T	0.25912	1.77	4.69	4.69	0.59074	.	0.688212	0.13500	N	0.383359	T	0.21962	0.0529	M	0.67953	2.075	0.30591	N	0.761562	P	0.42456	0.78	B	0.34652	0.187	T	0.33650	-0.9860	10	0.54805	T	0.06	.	16.5614	0.84567	0.0:0.0:1.0:0.0	.	308	Q8IYE1	CCD13_HUMAN	L	308	ENSP00000309836:S308L	ENSP00000309836:S308L	S	-	2	0	CCDC13	42759456	1.000000	0.71417	0.859000	0.33776	0.977000	0.68977	6.342000	0.72982	2.435000	0.82474	0.591000	0.81541	TCG		0.572	CCDC13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256652.1	NM_144719		10	276	0	0	0	0.000978159	0	10	276					A	42784452	G	A	42784452	3	1	73	1	0	0	0	0	1	0	0	0	2765	1059	37	2	1260	2	CCDC13	3	42784452	Missense_Mutation	SNP	G	TCGA-EJ-5527-01A-01D-1576-08	5659233	42784452	155237978	17	3792											
MORC1	27136	broad.mit.edu	37	chr3	108724127	108724127	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gattcatgcttcaagtcatcGcccaaaagcctgattttctg	10	13	7	11	1	4	1	3	1	1	0	5	2	4	1	2	0	2	1	2	0	3	4			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr3:108724127G>A	ENST00000483760.1	-	18	1783	c.1740C>T	c.(1738-1740)ggC>ggT	p.G580G	MORC1_ENST00000232603.5_Silent_p.G601G					MORC family CW-type zinc finger 1									p.G601G(2)		breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						TCAAGTCATCGCCCAAAAGCC	0.353																																						ENST00000232603.5																			2	Substitution - coding silent(2)	p.G601G(2)	prostate(1)|lung(1)	breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						c.(1801-1803)ggC>ggT		MORC family CW-type zinc finger 1							43	43	43					3																	108724127		2203	4299	6502	SO:0001819	synonymous_variant	27136				cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding	g.chr3:108724127G>A	AF084946	CCDS2955.1	3q13	2011-10-26	2005-06-15	2005-06-15	ENSG00000114487	ENSG00000114487			7198	protein-coding gene	gene with protein product	"cancer/testis antigen 33"	603205	"microrchidia (mouse) homolog", "microrchidia homolog (mouse)"	MORC		10369865	Standard	NM_014429		Approved	ZCW6, CT33	uc003dxl.3	Q86VD1	OTTHUMG00000159209	ENST00000483760.1:c.1740C>T	3.37:g.108724127G>A						MORC1_ENST00000483760.1_Silent_p.G580G	p.G601G	NM_014429.3	NP_055244.3	Q86VD1	MORC1_HUMAN			19	1885	-			601						Silent	SNP	ENST00000483760.1	37	c.1803C>T																																																																																					0.353	MORC1-002	NOVEL	basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000353844.1			7	153	0	0	0	0.00198382	0	7	153					A	108724127	G	A	108724127	2	1	73	1	0	0	0	0	0	0	0	1	9701	1074	38	1		1	MORC1	3	108724127	Silent	SNP	G	TCGA-EJ-5527-01A-01D-1576-08	65939675	108724127	89298303	18	3793											
IFT80	57560	broad.mit.edu	37	chr3	160037613	160037613	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcccaatgttgttccaccaCatgtgcaaaaacgacatgtc	12	10	6	13	1	0	0	0	0	0	0	3	1	2	0	3	0	2	3	3	0	3	2			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr3:160037613C>T	ENST00000326448.7	-	9	1324	c.892G>A	c.(892-894)Gtg>Atg	p.V298M	IFT80_ENST00000483465.1_Missense_Mutation_p.V161M|IFT80_ENST00000496589.1_Missense_Mutation_p.V161M|RP11-432B6.3_ENST00000483754.1_Missense_Mutation_p.V469M	NM_020800.2	NP_065851.1	Q9P2H3	IFT80_HUMAN	intraflagellar transport 80	298					bone morphogenesis (GO:0060349)|chondrocyte differentiation (GO:0002062)|cilium assembly (GO:0042384)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of non-canonical Wnt signaling pathway (GO:2000051)|osteoblast differentiation (GO:0001649)|positive regulation of smoothened signaling pathway (GO:0045880)|smoothened signaling pathway (GO:0007224)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|intraciliary transport particle B (GO:0030992)		p.V298M(1)		NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(12)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	36			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			TGTTCCACCACATGTGCAAAA	0.398																																						ENST00000326448.7																			1	Substitution - Missense(1)	p.V298M(1)	prostate(1)	NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(12)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	36						c.(892-894)Gtg>Atg		intraflagellar transport 80 homolog (Chlamydomonas)							125	124	124					3																	160037613		2203	4300	6503	SO:0001583	missense	57560					cilium axoneme|microtubule basal body		g.chr3:160037613C>T	AB037795	CCDS3188.1, CCDS54668.1	3q25.33	2014-07-03	2014-07-03	2005-11-02	ENSG00000068885	ENSG00000068885		"Intraflagellar transport homologs", "WD repeat domain containing"	29262	protein-coding gene	gene with protein product		611177	"WD repeat domain 56", "intraflagellar transport 80 homolog (Chlamydomonas)"	WDR56		10718198	Standard	NM_020800		Approved	KIAA1374	uc021xgq.1	Q9P2H3	OTTHUMG00000158953	ENST00000326448.7:c.892G>A	3.37:g.160037613C>T	ENSP00000312778:p.Val298Met					IFT80_ENST00000496589.1_Missense_Mutation_p.V161M|RP11-432B6.3_ENST00000483754.1_Missense_Mutation_p.V469M|IFT80_ENST00000483465.1_Missense_Mutation_p.V161M	p.V298M	NM_020800.2	NP_065851.1	Q9P2H3	IFT80_HUMAN	Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)		9	1324	-			298					B4E0K1|C9J8I0|Q3MJC4|Q86YF4|Q9UIX1	Missense_Mutation	SNP	ENST00000326448.7	37	c.892G>A	CCDS3188.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.096380	0.76870	.	.	ENSG00000068885	ENST00000326448;ENST00000483465;ENST00000496589	T;T;T	0.18657	2.2;4.94;4.94	4.7	3.81	0.43845	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (2);	0.117209	0.33772	U	0.004575	T	0.30634	0.0771	M	0.75777	2.31	0.46564	D	0.999107	P	0.50272	0.933	P	0.48030	0.564	T	0.10474	-1.0628	10	0.62326	D	0.03	.	9.8599	0.41107	0.0:0.8408:0.0:0.1592	.	298	Q9P2H3	IFT80_HUMAN	M	298;161;161	ENSP00000312778:V298M;ENSP00000418196:V161M;ENSP00000420646:V161M	ENSP00000312778:V298M	V	-	1	0	IFT80	161520307	0.879000	0.30193	1.000000	0.80357	0.989000	0.77384	1.651000	0.37302	1.291000	0.44653	0.555000	0.69702	GTG		0.398	IFT80-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352651.2	NM_020800		8	219	0	0	0	0.00307968	0	8	219					T	160037613	C	T	160037613	3	4	73	1	0	0	0	0	1	0	0	0	7564	478	17	3	1489	3	IFT80	3	160037613	Missense_Mutation	SNP	C	TCGA-EJ-5527-01A-01D-1576-08	51313486	160037613	37984817	19	3794											
AHSG	197	broad.mit.edu	37	chr3	186331026	186331026	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atttatagacaaccgaactgCgatgatccagaaactgagga	16	8	9	8	2	0	4	0	2	0	2	1	7	1	5	2	1	4	0	2	1	5	3			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr3:186331026C>T	ENST00000273784.5	+	1	172	c.96C>T	c.(94-96)tgC>tgT	p.C32C	AHSG_ENST00000411641.2_Silent_p.C32C	NM_001622.2	NP_001613.2	P02765	FETUA_HUMAN	alpha-2-HS-glycoprotein	32	Cystatin fetuin-A-type 1. {ECO:0000255|PROSITE-ProRule:PRU00861}.				acute-phase response (GO:0006953)|negative regulation of bone mineralization (GO:0030502)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of phosphorylation (GO:0042326)|ossification (GO:0001503)|pinocytosis (GO:0006907)|positive regulation of phagocytosis (GO:0050766)|regulation of bone mineralization (GO:0030500)|regulation of inflammatory response (GO:0050727)|skeletal system development (GO:0001501)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	cysteine-type endopeptidase inhibitor activity (GO:0004869)|kinase inhibitor activity (GO:0019210)	p.C32C(1)		central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(15)|prostate(2)|stomach(1)	22	all_cancers(143;3.64e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;3.27e-20)	GBM - Glioblastoma multiforme(93;0.0463)		AACCGAACTGCGATGATCCAG	0.512																																						ENST00000411641.2																			1	Substitution - coding silent(1)	p.C32C(1)	prostate(1)	central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(15)|prostate(2)|stomach(1)	22						c.(94-96)tgC>tgT		alpha-2-HS-glycoprotein							70	67	68					3																	186331026		2203	4300	6503	SO:0001819	synonymous_variant	197				acute-phase response|negative regulation of bone mineralization|negative regulation of insulin receptor signaling pathway|pinocytosis|positive regulation of phagocytosis|regulation of inflammatory response|skeletal system development	extracellular space	cysteine-type endopeptidase inhibitor activity|protein binding	g.chr3:186331026C>T	D67013, M16961	CCDS3278.1	3q27.3	2006-02-22			ENSG00000145192	ENSG00000145192			349	protein-coding gene	gene with protein product		138680				9322749, 7736783	Standard	NM_001622		Approved	FETUA, A2HS, HSGA	uc003fqk.4	P02765	OTTHUMG00000156605	ENST00000273784.5:c.96C>T	3.37:g.186331026C>T						AHSG_ENST00000273784.5_Silent_p.C32C	p.C32C			P02765	FETUA_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;3.27e-20)	GBM - Glioblastoma multiforme(93;0.0463)	1	315	+	all_cancers(143;3.64e-12)|Ovarian(172;0.0339)		32			Cystatin fetuin-A-type 1.		A8K9N6|B2R7G1|O14961|O14962|Q9P152	Silent	SNP	ENST00000273784.5	37	c.96C>T																																																																																					0.512	AHSG-002	NOVEL	basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000344762.1	NM_001622		5	108	0	0	0	0.000602214	0	5	108					T	186331026	C	T	186331026	2	4	73	1	0	0	0	0	0	0	0	1	420	776	27	1		1	AHSG	3	186331026	Silent	SNP	C	TCGA-EJ-5527-01A-01D-1576-08	26293413	186331026	11691404	20	3795											
ARAP2	116984	broad.mit.edu	37	chr4	36130284	36130284	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agccctcaatttaaagcttcTtgcatcctttttgaaactct	10	16	4	11	0	3	1	1	1	2	0	4	1	4	1	2	0	4	2	2	0	4	6			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr4:36130284T>G	ENST00000303965.4	-	21	4000	c.3511A>C	c.(3511-3513)Aga>Cga	p.R1171R		NM_015230.3	NP_056045.2	Q8WZ64	ARAP2_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2	1171	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				regulation of ARF GTPase activity (GO:0032312)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|zinc ion binding (GO:0008270)	p.R1171R(1)		breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(32)|ovary(2)|pancreas(1)|prostate(3)|skin(7)|urinary_tract(1)	82						TTAAAGCTTCTTGCATCCTTT	0.358																																						ENST00000303965.4																			1	Substitution - coding silent(1)	p.R1171R(1)	prostate(1)	breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(32)|ovary(2)|pancreas(1)|prostate(3)|skin(7)|urinary_tract(1)	82						c.(3511-3513)Aga>Cga		ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2							103	101	101					4																	36130284		2203	4300	6503	SO:0001819	synonymous_variant	116984				regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytosol	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|zinc ion binding	g.chr4:36130284T>G	AF411982	CCDS3441.1	4p15.1	2013-01-11	2008-09-22	2008-09-22	ENSG00000047365	ENSG00000047365		"ADP-ribosylation factor GTPase activating proteins", "Sterile alpha motif (SAM) domain containing", "Pleckstrin homology (PH) domain containing", "Ankyrin repeat domain containing"	16924	protein-coding gene	gene with protein product		606645	"centaurin, delta 1"	CENTD1			Standard	NM_015230		Approved	PARX	uc003gsq.2	Q8WZ64	OTTHUMG00000097811	ENST00000303965.4:c.3511A>C	4.37:g.36130284T>G							p.R1171R	NM_015230.3	NP_056045.2	Q8WZ64	ARAP2_HUMAN			21	4000	-			1171			Rho-GAP.		Q4W5D2|Q7Z2L5|Q96L70|Q96P49|Q9Y4E4	Silent	SNP	ENST00000303965.4	37	c.3511A>C	CCDS3441.1																																																																																				0.358	ARAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215074.2	NM_015230		11	175	0	0	0	0.00185496	0	11	175					G	36130284	T	G	36130284	2	3	73	1	0	0	0	0	0	0	0	1	839	1617	56	5		5	ARAP2	4	36130284	Silent	SNP	T	TCGA-EJ-5527-01A-01D-1576-08		36130284	155023992	21	3796											
KDR	3791	broad.mit.edu	37	chr4	55956221	55956221	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccgataagaggatatttcGtgccgccaggtccctgtgga	8	10	12	11	3	0	1	0	0	0	1	3	4	2	3	4	3	1	0	4	3	2	3			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr4:55956221G>A	ENST00000263923.4	-	23	3389	c.3094C>T	c.(3094-3096)Cga>Tga	p.R1032*	RP11-530I17.1_ENST00000511222.1_RNA	NM_002253.2	NP_002244.1	P35968	VGFR2_HUMAN	kinase insert domain receptor (a type III receptor tyrosine kinase)	1032	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				angiogenesis (GO:0001525)|branching morphogenesis of an epithelial tube (GO:0048754)|calcium ion homeostasis (GO:0055074)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|cell fate commitment (GO:0045165)|cell maturation (GO:0048469)|cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|embryonic hemopoiesis (GO:0035162)|endothelial cell differentiation (GO:0045446)|endothelium development (GO:0003158)|extracellular matrix organization (GO:0030198)|lung alveolus development (GO:0048286)|lymph vessel development (GO:0001945)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|ovarian follicle development (GO:0001541)|peptidyl-tyrosine autophosphorylation (GO:0038083)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of vasculogenesis (GO:2001214)|protein autophosphorylation (GO:0046777)|regulation of cell shape (GO:0008360)|signal transduction by phosphorylation (GO:0023014)|surfactant homeostasis (GO:0043129)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor signaling pathway (GO:0038084)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sorting endosome (GO:0097443)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|Hsp90 protein binding (GO:0051879)|integrin binding (GO:0005178)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor binding (GO:0038085)|vascular endothelial growth factor-activated receptor activity (GO:0005021)	p.R1032*(1)		NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Axitinib(DB06626)|Cabozantinib(DB08875)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	AGGATATTTCGTGCCGCCAGG	0.448			Mis		"NSCLC, angiosarcoma"					TSP Lung(20;0.16)																												ENST00000263923.4				Dom	yes		4	4q11-q12	3791	Mis	vascular endothelial growth factor receptor 2			E			"NSCLC, angiosarcoma"		1	Substitution - Nonsense(1)	p.R1032*(1)	prostate(1)	NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135						c.(3094-3096)Cga>Tga		kinase insert domain receptor (a type III receptor tyrosine kinase)	Sorafenib(DB00398)|Sunitinib(DB01268)						89	86	87					4																	55956221		2203	4300	6503	SO:0001587	stop_gained	3791				angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape	integral to plasma membrane	ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity	g.chr4:55956221G>A	AF035121	CCDS3497.1	4q11-q12	2013-01-29			ENSG00000128052	ENSG00000128052	2.7.10.1	"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6307	protein-coding gene	gene with protein product		191306				1417831	Standard	NM_002253		Approved	FLK1, VEGFR, VEGFR2, CD309	uc003has.3	P35968	OTTHUMG00000128734	ENST00000263923.4:c.3094C>T	4.37:g.55956221G>A	ENSP00000263923:p.Arg1032*	TSP Lung(20;0.16)				RP11-530I17.1_ENST00000511222.1_RNA	p.R1032*	NM_002253.2	NP_002244.1	P35968	VGFR2_HUMAN	Epithelial(7;0.189)		23	3389	-	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		1032			Protein kinase.		A2RRS0|B5A925|C5IFA0|O60723|Q14178	Nonsense_Mutation	SNP	ENST00000263923.4	37	c.3094C>T	CCDS3497.1	.	.	.	.	.	.	.	.	.	.	G	43	10.428062	0.99403	.	.	ENSG00000128052	ENST00000263923	.	.	.	5.32	4.48	0.54585	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.7963	0.78412	0.0:0.0:0.8628:0.1372	.	.	.	.	X	1032	.	ENSP00000263923:R1032X	R	-	1	2	KDR	55650978	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	5.160000	0.64929	1.364000	0.46038	0.563000	0.77884	CGA		0.448	KDR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250645.1			7	210	0	0	0	0.00307968	0	7	210					A	55956221	G	A	55956221	4	1	73	1	0	0	0	0	0	1	0	0	8139	1153	40	1	1008	1	KDR	4	55956221	Nonsense_Mutation	SNP	G	TCGA-EJ-5527-01A-01D-1576-08	19825937	55956221	135198055	22	3797											
UBA6	55236	broad.mit.edu	37	chr4	68529609	68529610	+	Frame_Shift_Ins	INS	-	-	T																															agtgtttatttacctcagggINSttgctaaaatccacaataag																										TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr4:68529609_68529610insT	ENST00000322244.5	-	11	1012_1013	c.953_954insA	c.(952-954)aacfs	p.N318fs	UBA6_ENST00000420827.2_Frame_Shift_Ins_p.N318fs	NM_018227.5	NP_060697.4	A0AVT1	UBA6_HUMAN	ubiquitin-like modifier activating enzyme 6	318					protein ubiquitination (GO:0016567)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|FAT10 activating enzyme activity (GO:0019780)|ligase activity (GO:0016874)			central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(6)|liver(1)|lung(23)|skin(2)|upper_aerodigestive_tract(2)	44						TTACCTCAGGGTTGCTAAAATC	0.386																																						ENST00000322244.4																			0				central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(6)|liver(1)|lung(23)|skin(2)|upper_aerodigestive_tract(2)	44						c.(952-954)accfs		ubiquitin-like modifier activating enzyme 6																																				SO:0001589	frameshift_variant	55236				protein ubiquitination|ubiquitin-dependent protein catabolic process	cytoplasm	ATP binding|FAT10 activating enzyme activity|ligase activity|protein binding	g.chr4:68529609_68529610insT	AK094164	CCDS3516.1	4q13.2	2008-02-05	2007-11-30	2007-11-30	ENSG00000033178	ENSG00000033178		"Ubiquitin-like modifier activating enzymes"	25581	protein-coding gene	gene with protein product	"UBA6, ubiquitin-activating enzyme E1"	611361	"ubiquitin-activating enzyme E1-like 2"	UBE1L2		17580310	Standard	NM_018227		Approved	FLJ10808	uc003hdg.4	A0AVT1	OTTHUMG00000129299	ENST00000322244.5:c.954dupA	4.37:g.68529611_68529611dupT	ENSP00000313454:p.Asn318fs					UBA6_ENST00000420827.2_Frame_Shift_Ins_p.T318fs	p.T318fs	NM_018227.5	NP_060697.4	A0AVT1	UBA6_HUMAN			11	1012_1013	-			318					A6N8M7|B2RAV3|Q4W5K0|Q6UV21|Q86T78|Q86TC7|Q8N5T3|Q8N9E4|Q9H3T7|Q9NVC9	Frame_Shift_Ins	INS	ENST00000322244.5	37	c.953_954insA	CCDS3516.1																																																																																				0.386	UBA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251429.2	NM_018227		8	279						8	279	---	---	---	---	T	68529610	-	T	68529609	7	5	73	1	0	1	1	0	0	0	0	0	16829	1252	44	0	2296	0	UBA6	4	68529609	Frame_Shift_Ins	INS	-	TCGA-EJ-5527-01A-01D-1576-08	12573388	68529609	122624667	23	3798											
MRPL1	65008	broad.mit.edu	37	chr4	78784032	78784032	+	Splice_Site	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccgtaaggtgcatgggtagAggtaaggcgaggggttgtct	8	9	19	5	2	1	1	0	0	1	1	1	2	1	1	1	6	1	5	1	6	3	4			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr4:78784032A>C	ENST00000315567.8	+	1	359	c.30A>C	c.(28-30)agA>agC	p.R10S		NM_020236.3	NP_064621.3	Q9BYD6	RM01_HUMAN	mitochondrial ribosomal protein L1	10					translation (GO:0006412)	large ribosomal subunit (GO:0015934)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)	p.R10S(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)	17						GCATGGGTAGAGGTAAGGCGA	0.537																																						ENST00000315567.8																			1	Substitution - Missense(1)	p.R10S(1)	prostate(1)	breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)	17						c.e1+1		mitochondrial ribosomal protein L1							126	144	138					4																	78784032		1961	4143	6104	SO:0001630	splice_region_variant	65008						RNA binding	g.chr4:78784032A>C	AB049474	CCDS3583.2	4q21.1	2012-09-13			ENSG00000169288	ENSG00000169288		"Mitochondrial ribosomal proteins / large subunits"	14275	protein-coding gene	gene with protein product		611821					Standard	NM_020236		Approved	BM022	uc003hku.2	Q9BYD6	OTTHUMG00000130200	ENST00000315567.8:c.31+1A>C	4.37:g.78784032A>C							p.R10_splice	NM_020236.3	NP_064621.3	Q9BYD6	RM01_HUMAN			1	359	+			10					A6NG03|Q4W5B8|Q6IAG4|Q96BW3|Q9H793|Q9NRL5	Splice_Site	SNP	ENST00000315567.8	37	c.31_splice	CCDS3583.2	.	.	.	.	.	.	.	.	.	.	A	12.16	1.854638	0.32791	.	.	ENSG00000169288	ENST00000315567	T	0.32753	1.44	4.52	-0.479	0.12089	.	0.333132	0.20058	U	0.100145	T	0.25494	0.0620	L	0.39898	1.24	0.28380	N	0.919598	P	0.41420	0.749	P	0.45753	0.492	T	0.14309	-1.0477	10	0.33141	T	0.24	-1.4521	7.1856	0.25797	0.6144:0.0:0.3856:0.0	.	10	Q9BYD6	RM01_HUMAN	S	10	ENSP00000315017:R10S	ENSP00000315017:R10S	R	+	3	2	MRPL1	79003056	1.000000	0.71417	0.474000	0.27266	0.021000	0.10359	1.420000	0.34804	-0.049000	0.13379	-0.923000	0.02734	AGA		0.537	MRPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252518.3	NM_020236	Missense_Mutation	6	169	0	0	0	0.00198382	0	6	169					C	78784032	A	C	78784032	5	2	73	1	0	0	0	0	0	0	1	0	9774	318	11	5	32	5	MRPL1	4	78784032	Splice_Site	SNP	A	TCGA-EJ-5527-01A-01D-1576-08	10254423	78784032	112370244	24	3799											
FAM105B	90268	broad.mit.edu	37	chr5	14687628	14687628	+	Splice_Site	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tctttgtttctcgatgttgtAgttaccagaaaaactcataa	12	16	6	7	1	3	1	1	0	2	1	4	2	3	1	1	0	2	4	1	0	5	6			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr5:14687628A>T	ENST00000284274.4	+	5	546		c.e5-1			NM_138348.4	NP_612357.4	Q96BN8	OTUL_HUMAN							canonical Wnt signaling pathway (GO:0060070)|innate immune response (GO:0045087)|negative regulation of inflammatory response (GO:0050728)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|nucleotide-binding oligomerization domain containing 2 signaling pathway (GO:0070431)|protein linear deubiquitination (GO:1990108)|sprouting angiogenesis (GO:0002040)	cytoplasm (GO:0005737)|LUBAC complex (GO:0071797)	cysteine-type peptidase activity (GO:0008234)|ubiquitin-specific protease activity (GO:0004843)			breast(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)	14	Lung NSC(4;0.00696)					TCGATGTTGTAGTTACCAGAA	0.348																																						ENST00000284274.4																			0				breast(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)	14						c.e5-1		family with sequence similarity 105, member B							114	116	115					5																	14687628		1837	4102	5939	SO:0001630	splice_region_variant	90268							g.chr5:14687628A>T																												ENST00000284274.4:c.469-1A>T	5.37:g.14687628A>T								NM_138348.4	NP_612357.4	Q96BN8	F105B_HUMAN			5	546	+	Lung NSC(4;0.00696)							D3DTD3|Q8NAS0|Q96IA3	Splice_Site	SNP	ENST00000284274.4	37		CCDS43302.1	.	.	.	.	.	.	.	.	.	.	A	20.9	4.065430	0.76187	.	.	ENSG00000154124	ENST00000284274	.	.	.	6.04	6.04	0.98038	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.3294	0.66545	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	FAM105B	14740628	1.000000	0.71417	0.959000	0.39883	0.989000	0.77384	6.015000	0.70791	2.317000	0.78254	0.460000	0.39030	.		0.348	FAM105B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366012.1		Intron	5	192	0	0	0	0.000602214	0	5	192					T	14687628	A	T	14687628	5	4	73	1	0	0	0	0	0	0	1	0	5388	434	15	5	485	5	FAM105B	5	14687628	Splice_Site	SNP	A	TCGA-EJ-5527-01A-01D-1576-08		14687628	166227632	25	3800											
FBXL7	23194	broad.mit.edu	37	chr5	15928553	15928553	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gctgttacaatatctccaacGaggccgtctttgatgtggtg	8	13	11	9	2	2	1	0	1	2	0	3	2	2	1	2	2	2	2	2	2	4	3			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr5:15928553G>A	ENST00000504595.1	+	3	1163	c.682G>A	c.(682-684)Gag>Aag	p.E228K	FBXL7_ENST00000329673.7_Missense_Mutation_p.E216K|FBXL7_ENST00000510662.1_Missense_Mutation_p.E181K	NM_001278317.1|NM_012304.3	NP_001265246.1|NP_036436.1	Q9UJT9	FBXL7_HUMAN	F-box and leucine-rich repeat protein 7	228					cell proliferation (GO:0008283)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic nuclear division (GO:0007067)|protein ubiquitination (GO:0016567)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|ubiquitin-dependent protein catabolic process (GO:0006511)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|SCF ubiquitin ligase complex (GO:0019005)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(13)|lung(33)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	60						TATCTCCAACGAGGCCGTCTT	0.582																																						ENST00000504595.1																			0				cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(13)|lung(33)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	60						c.(682-684)Gag>Aag		F-box and leucine-rich repeat protein 7							110	105	106					5																	15928553		2031	4187	6218	SO:0001583	missense	23194				ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity	g.chr5:15928553G>A	AB020647	CCDS54833.1, CCDS64129.1	5p15.1	2011-06-09				ENSG00000183580		"F-boxes / Leucine-rich repeats"	13604	protein-coding gene	gene with protein product		605656				10048485, 10531035	Standard	NM_012304		Approved	KIAA0840, FBL7, FBL6	uc003jfn.1	Q9UJT9		ENST00000504595.1:c.682G>A	5.37:g.15928553G>A	ENSP00000423630:p.Glu228Lys					FBXL7_ENST00000510662.1_Missense_Mutation_p.E181K|FBXL7_ENST00000329673.7_Missense_Mutation_p.E216K	p.E228K	NM_001278317.1|NM_012304.3	NP_001265246.1|NP_036436.1	Q9UJT9	FBXL7_HUMAN			3	1163	+			228					B9EGF1|D6RDY7|O94926	Missense_Mutation	SNP	ENST00000504595.1	37	c.682G>A	CCDS54833.1	.	.	.	.	.	.	.	.	.	.	G	12.40	1.927010	0.34002	.	.	ENSG00000183580	ENST00000504595;ENST00000510662;ENST00000329673	T;T;T	0.01304	5.03;5.03;5.03	5.24	5.24	0.73138	.	0.047036	0.85682	D	0.000000	T	0.01835	0.0058	L	0.48935	1.535	0.58432	D	0.999997	B	0.27765	0.188	B	0.15870	0.014	T	0.53049	-0.8493	10	0.07030	T	0.85	.	18.817	0.92079	0.0:0.0:1.0:0.0	.	228	Q9UJT9	FBXL7_HUMAN	K	228;181;216	ENSP00000423630:E228K;ENSP00000425184:E181K;ENSP00000329632:E216K	ENSP00000329632:E216K	E	+	1	0	FBXL7	15981553	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.876000	0.87215	2.458000	0.83093	0.561000	0.74099	GAG		0.582	FBXL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366117.1	NM_012304		5	173	0	0	0	0.000602214	0	5	173					A	15928553	G	A	15928553	3	1	73	1	0	0	0	0	1	0	0	0	5724	1059	37	2	692	2	FBXL7	5	15928553	Missense_Mutation	SNP	G	TCGA-EJ-5527-01A-01D-1576-08	1240925	15928553	164986707	26	3801											
ADRB2	154	broad.mit.edu	37	chr5	148207351	148207351	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggataggctatgtcaattcTggtttcaatccccttatcta	9	16	7	9	0	4	0	2	0	2	0	5	1	5	1	2	3	0	2	2	3	6	6			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr5:148207351T>G	ENST00000305988.4	+	1	1196	c.957T>G	c.(955-957)tcT>tcG	p.S319S		NM_000024.5	NP_000015	P07550	ADRB2_HUMAN	adrenoceptor beta 2, surface	319					activation of adenylate cyclase activity (GO:0007190)|activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|adrenergic receptor signaling pathway (GO:0071875)|bone resorption (GO:0045453)|brown fat cell differentiation (GO:0050873)|cell surface receptor signaling pathway (GO:0007166)|desensitization of G-protein coupled receptor protein signaling pathway by arrestin (GO:0002032)|diet induced thermogenesis (GO:0002024)|endosome to lysosome transport (GO:0008333)|heat generation (GO:0031649)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of smooth muscle contraction (GO:0045986)|positive regulation of bone mineralization (GO:0030501)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|receptor-mediated endocytosis (GO:0006898)|regulation of sodium ion transport (GO:0002028)|regulation of vasodilation (GO:0042312)|response to cold (GO:0009409)|vasodilation by norepinephrine-epinephrine involved in regulation of systemic arterial blood pressure (GO:0002025)	apical plasma membrane (GO:0016324)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	beta2-adrenergic receptor activity (GO:0004941)|norepinephrine binding (GO:0051380)|potassium channel regulator activity (GO:0015459)|protein homodimerization activity (GO:0042803)	p.S319S(1)		endometrium(1)|kidney(1)|lung(8)|ovary(1)|prostate(3)	14			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Acebutolol(DB01193)|Alprenolol(DB00866)|Amitriptyline(DB00321)|Amphetamine(DB00182)|Arbutamine(DB01102)|Arformoterol(DB01274)|Asenapine(DB06216)|Atenolol(DB00335)|Bambuterol(DB01408)|Betaxolol(DB00195)|Bethanidine(DB00217)|Bevantolol(DB01295)|Bisoprolol(DB00612)|Bopindolol(DB08807)|Bupranolol(DB08808)|Cabergoline(DB00248)|Carteolol(DB00521)|Carvedilol(DB01136)|Clenbuterol(DB01407)|Desipramine(DB01151)|Dipivefrin(DB00449)|Dobutamine(DB00841)|Droxidopa(DB06262)|Ephedra(DB01363)|Epinephrine(DB00668)|Fenoterol(DB01288)|Formoterol(DB00983)|Indacaterol(DB05039)|Isoetarine(DB00221)|Isoprenaline(DB01064)|Labetalol(DB00598)|Levobunolol(DB01210)|Mephentermine(DB01365)|Metipranolol(DB01214)|Metoprolol(DB00264)|Mirtazapine(DB00370)|Nadolol(DB01203)|Nebivolol(DB04861)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Orciprenaline(DB00816)|Oxprenolol(DB01580)|Penbutolol(DB01359)|Phenoxybenzamine(DB00925)|Phenylpropanolamine(DB00397)|Pindolol(DB00960)|Pirbuterol(DB01291)|Procaterol(DB01366)|Propranolol(DB00571)|Pseudoephedrine(DB00852)|Ritodrine(DB00867)|Salbutamol(DB01001)|Salmeterol(DB00938)|Sotalol(DB00489)|Terbutaline(DB00871)|Timolol(DB00373)|Trimipramine(DB00726)	ATGTCAATTCTGGTTTCAATC	0.478																																						ENST00000305988.4																			1	Substitution - coding silent(1)	p.S319S(1)	prostate(1)	endometrium(1)|kidney(1)|lung(8)|ovary(1)|prostate(3)	14						c.(955-957)tcT>tcG		adrenoceptor beta 2, surface	Alprenolol(DB00866)|Arformoterol(DB01274)|Bambuterol(DB01408)|Bisoprolol(DB00612)|Bitolterol(DB00901)|Bretylium(DB01158)|Carteolol(DB00521)|Carvedilol(DB01136)|Clenbuterol(DB01407)|Desipramine(DB01151)|Epinephrine(DB00668)|Fenoterol(DB01288)|Formoterol(DB00983)|Isoproterenol(DB01064)|Labetalol(DB00598)|Levobunolol(DB01210)|Metipranolol(DB01214)|Nadolol(DB01203)|Norepinephrine(DB00368)|Orciprenaline(DB00816)|Oxprenolol(DB01580)|Penbutolol(DB01359)|Pindolol(DB00960)|Pirbuterol(DB01291)|Procaterol(DB01366)|Propranolol(DB00571)|Pseudoephedrine(DB00852)|Ritodrine(DB00867)|Salbutamol(DB01001)|Salmeterol(DB00938)|Terbutaline(DB00871)|Timolol(DB00373)						92	90	91					5																	148207351		2203	4300	6503	SO:0001819	synonymous_variant	154				activation of transmembrane receptor protein tyrosine kinase activity|desensitization of G-protein coupled receptor protein signaling pathway by arrestin|endosome to lysosome transport|positive regulation of MAPKKK cascade|receptor-mediated endocytosis	endosome|integral to plasma membrane|lysosome|receptor complex	beta2-adrenergic receptor activity|norepinephrine binding|potassium channel regulator activity|protein homodimerization activity	g.chr5:148207351T>G	AF022953	CCDS4292.1	5q31-q32	2012-08-08	2012-05-09		ENSG00000169252	ENSG00000169252		"GPCR / Class A : Adrenoceptors : beta"	286	protein-coding gene	gene with protein product		109690	"adrenergic, beta-2-, receptor, surface"	ADRB2R			Standard	NM_000024		Approved	ADRBR, BAR, B2AR	uc003lpr.2	P07550	OTTHUMG00000129933	ENST00000305988.4:c.957T>G	5.37:g.148207351T>G							p.S319S	NM_000024.5	NP_000015.1	P07550	ADRB2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1196	+			319					B0LPE4|B2R7X2|O14823|O14824|O14825|O14826|Q4JG18|Q53GA6|Q6GMT4|Q6P4D8|Q8NEQ9|Q96EC3|Q9UCZ0|Q9UCZ1|Q9UCZ2|Q9UCZ3|Q9UH95|Q9UHA1|Q9UMZ5	Silent	SNP	ENST00000305988.4	37	c.957T>G	CCDS4292.1																																																																																				0.478	ADRB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252189.1	NM_000024		15	142	0	0	0	0.00244969	0	15	142					G	148207351	T	G	148207351	2	3	73	1	0	0	0	0	0	0	0	1	341	1567	55	5		5	ADRB2	5	148207351	Silent	SNP	T	TCGA-EJ-5527-01A-01D-1576-08	132278798	148207351	32707909	27	3802											
LARP1	23367	broad.mit.edu	37	chr5	154181820	154181820	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acattacatgcgccggcaccCagggggggaccgcacaggca	10	3	14	14	3	0	0	0	0	0	0	0	1	0	1	3	5	2	3	3	5	1	1			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr5:154181820C>A	ENST00000336314.4	+	11	1763	c.1739C>A	c.(1738-1740)cCa>cAa	p.P580Q		NM_015315.3	NP_056130.2	Q6PKG0	LARP1_HUMAN	La ribonucleoprotein domain family, member 1	657					cell proliferation (GO:0008283)|positive regulation of macroautophagy (GO:0016239)|positive regulation of translation (GO:0045727)|TOR signaling (GO:0031929)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	eukaryotic initiation factor 4E binding (GO:0008190)|mRNA 3'-UTR binding (GO:0003730)|mRNA 5'-UTR binding (GO:0048027)|poly(A) RNA binding (GO:0044822)|RNA cap binding (GO:0000339)|translation activator activity (GO:0008494)|translation initiation factor binding (GO:0031369)			breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	33	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			CGCCGGCACCCAGGGGGGGAC	0.547																																						ENST00000336314.4																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	33						c.(1738-1740)cCa>cAa		La ribonucleoprotein domain family, member 1							81	77	78					5																	154181820		2203	4300	6503	SO:0001583	missense	23367						protein binding|RNA binding	g.chr5:154181820C>A	AB018274	CCDS4328.1	5q33.2	2014-02-12			ENSG00000155506	ENSG00000155506		"La ribonucleoprotein domain containing"	29531	protein-coding gene	gene with protein product		612059				9872452, 10878606	Standard	NM_015315		Approved	LARP, KIAA0731, MGC19556	uc003lvo.4	Q6PKG0	OTTHUMG00000130191	ENST00000336314.4:c.1739C>A	5.37:g.154181820C>A	ENSP00000336721:p.Pro580Gln						p.P580Q	NM_015315.3	NP_056130.2	Q6PKG0	LARP1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)		11	1763	+	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	657					O94836|Q8N4M2|Q8NB73|Q9UFD7	Missense_Mutation	SNP	ENST00000336314.4	37	c.1739C>A	CCDS4328.1	.	.	.	.	.	.	.	.	.	.	C	33	5.270299	0.95429	.	.	ENSG00000155506	ENST00000336314;ENST00000518297;ENST00000524248	T;T;T	0.34859	1.82;1.34;1.38	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.63651	0.2529	M	0.79805	2.47	0.80722	D	1	D;D	0.69078	0.997;0.961	D;D	0.63957	0.92;0.914	T	0.61530	-0.7044	10	0.49607	T	0.09	-10.0479	20.8794	0.99867	0.0:1.0:0.0:0.0	.	657;580	Q6PKG0;Q6PKG0-3	LARP1_HUMAN;.	Q	580;657;452	ENSP00000336721:P580Q;ENSP00000428589:P657Q;ENSP00000429904:P452Q	ENSP00000336721:P580Q	P	+	2	0	LARP1	154162013	1.000000	0.71417	0.999000	0.59377	0.984000	0.73092	7.755000	0.85180	2.941000	0.99782	0.655000	0.94253	CCA		0.547	LARP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252509.1	NM_033551		6	196	1	0	0.00116845	0.00116845	0.00315632	6	196					A	154181820	C	A	154181820	3	1	73	1	0	0	0	0	1	0	0	0	8628	594	21	5	1781	5	LARP1	5	154181820	Missense_Mutation	SNP	C	TCGA-EJ-5527-01A-01D-1576-08	5974469	154181820	26733440	28	3803											
HAVCR1	26762	broad.mit.edu	37	chr5	156479438	156479438	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	agagacagttgttgtcactgGaacacttgttgttgttggaa	10	14	12	5	0	1	1	1	0	0	1	1	4	1	3	0	2	1	5	0	2	2	6			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr5:156479438G>A	ENST00000339252.3	-	3	1139	c.607C>T	c.(607-609)Cca>Tca	p.P203S	HAVCR1_ENST00000523175.1_Missense_Mutation_p.P203S|HAVCR1_ENST00000425854.1_Missense_Mutation_p.P203S|HAVCR1_ENST00000544197.1_Missense_Mutation_p.P203S|HAVCR1_ENST00000522693.1_Missense_Mutation_p.P203S	NM_012206.2	NP_036338.2	Q96D42	HAVR1_HUMAN	hepatitis A virus cellular receptor 1	0	Thr-rich.				viral process (GO:0016032)	integral component of membrane (GO:0016021)	virus receptor activity (GO:0001618)	p.P203S(1)		endometrium(3)|large_intestine(2)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.0999)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GTTGTCACTGGAACACTTGTT	0.468																																						ENST00000339252.3																			1	Substitution - Missense(1)	p.P203S(1)	prostate(1)	endometrium(3)|large_intestine(2)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28						c.(607-609)Cca>Tca		hepatitis A virus cellular receptor 1							360	352	355					5																	156479438		2068	4209	6277	SO:0001583	missense	26762				interspecies interaction between organisms	integral to membrane	receptor activity	g.chr5:156479438G>A	AF043724	CCDS43392.1	5q33.2	2014-01-14			ENSG00000113249	ENSG00000113249		"Immunoglobulin superfamily / V-set domain containing"	17866	protein-coding gene	gene with protein product	"T-cell immunoglobulin mucin family member 1"	606518				9658108, 11725301	Standard	NM_012206		Approved	HAVCR-1, TIM-1, TIM1, HAVCR, TIMD1	uc021ygj.1	Q96D42	OTTHUMG00000163466	ENST00000339252.3:c.607C>T	5.37:g.156479438G>A	ENSP00000344844:p.Pro203Ser					HAVCR1_ENST00000523175.1_Missense_Mutation_p.P203S|HAVCR1_ENST00000522693.1_Missense_Mutation_p.P203S|HAVCR1_ENST00000425854.1_Missense_Mutation_p.P203S|HAVCR1_ENST00000544197.1_Missense_Mutation_p.P203S	p.P203S	NM_012206.2	NP_036338.2	Q96D42	HAVR1_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		3	1139	-	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.0999)	198			Thr-rich.		O43656	Missense_Mutation	SNP	ENST00000339252.3	37	c.607C>T	CCDS43392.1	.	.	.	.	.	.	.	.	.	.	G	12.32	1.901641	0.33535	.	.	ENSG00000113249	ENST00000522693;ENST00000523175;ENST00000339252;ENST00000425854;ENST00000544197;ENST00000518745	T;T;T;T;T;T	0.23552	2.07;2.11;2.11;2.07;2.11;1.9	3.32	2.43	0.29744	.	.	.	.	.	T	0.20210	0.0486	N	0.14661	0.345	0.26389	N	0.976618	D;D;D	0.56968	0.978;0.978;0.978	P;P;P	0.51170	0.661;0.568;0.568	T	0.08576	-1.0715	9	0.33141	T	0.24	-11.6421	8.2785	0.31887	0.1233:0.0:0.8767:0.0	.	203;198;198	E9PFX0;F1CME6;Q96D42	.;.;HAVR1_HUMAN	S	203	ENSP00000428524:P203S;ENSP00000427898:P203S;ENSP00000344844:P203S;ENSP00000403333:P203S;ENSP00000440258:P203S;ENSP00000428422:P203S	ENSP00000344844:P203S	P	-	1	0	HAVCR1	156412016	0.939000	0.31865	0.270000	0.24601	0.035000	0.12851	0.912000	0.28597	0.742000	0.32697	0.543000	0.68304	CCA		0.468	HAVCR1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373698.1			67	448	0	0	0	0.00361006	0	67	448					A	156479438	G	A	156479438	3	1	73	1	0	0	0	0	1	0	0	0	6973	1174	41	3	511	3	HAVCR1	5	156479438	Missense_Mutation	SNP	G	TCGA-EJ-5527-01A-01D-1576-08	2297618	156479438	24435822	29	3804											
SH3PXD2B	285590	broad.mit.edu	37	chr5	171821588	171821588	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttacagtattcatcaattggTatcaggcgtttgacagccac	11	13	8	9	1	3	1	3	1	0	0	3	1	3	1	1	2	2	3	1	2	4	6			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr5:171821588T>G	ENST00000311601.5	-	4	458	c.288A>C	c.(286-288)atA>atC	p.I96I	SH3PXD2B_ENST00000519643.1_Silent_p.I96I	NM_001017995.2	NP_001017995.1	A1X283	SPD2B_HUMAN	SH3 and PX domains 2B	96	PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.				adipose tissue development (GO:0060612)|bone development (GO:0060348)|cell differentiation (GO:0030154)|extracellular matrix disassembly (GO:0022617)|eye development (GO:0001654)|heart development (GO:0007507)|podosome assembly (GO:0071800)|positive regulation of fat cell differentiation (GO:0045600)|protein localization to membrane (GO:0072657)|skeletal system development (GO:0001501)|superoxide metabolic process (GO:0006801)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|podosome (GO:0002102)	phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4-phosphate binding (GO:0070273)|phosphatidylinositol-5-phosphate binding (GO:0010314)|SH2 domain binding (GO:0042169)	p.I96I(1)		NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(12)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	36	Renal(175;0.000159)|Lung NSC(126;0.011)|all_lung(126;0.0175)	Medulloblastoma(196;0.0207)|all_neural(177;0.0625)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			CATCAATTGGTATCAGGCGTT	0.468																																						ENST00000311601.5																			1	Substitution - coding silent(1)	p.I96I(1)	prostate(1)	NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(12)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	36						c.(286-288)atA>atC		SH3 and PX domains 2B							101	94	97					5																	171821588		2203	4300	6503	SO:0001819	synonymous_variant	285590				adipose tissue development|bone development|cell communication|cell differentiation|eye development|heart development|podosome assembly	cell junction|cell projection|cytoplasm|podosome	phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-5-phosphate binding|SH2 domain binding	g.chr5:171821588T>G	AK095834	CCDS34291.1	5q35.2	2008-02-05	2006-02-13	2006-02-13	ENSG00000174705	ENSG00000174705			29242	protein-coding gene	gene with protein product		613293	"KIAA1295"	KIAA1295		10718198	Standard	NM_001017995		Approved	FLJ20831	uc003mbr.3	A1X283	OTTHUMG00000163280	ENST00000311601.5:c.288A>C	5.37:g.171821588T>G						SH3PXD2B_ENST00000519643.1_Silent_p.I96I	p.I96I	NM_001017995.2	NP_001017995.1	A1X283	SPD2B_HUMAN	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)		4	458	-	Renal(175;0.000159)|Lung NSC(126;0.011)|all_lung(126;0.0175)	Medulloblastoma(196;0.0207)|all_neural(177;0.0625)	96			PX.		B6F0V2|Q9P2Q1	Silent	SNP	ENST00000311601.5	37	c.288A>C	CCDS34291.1																																																																																				0.468	SH3PXD2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372449.1	NM_017963		9	67	0	0	0	0.000442599	0	9	67					G	171821588	T	G	171821588	2	3	73	1	0	0	0	0	0	0	0	1	14257	1628	57	5		5	SH3PXD2B	5	171821588	Silent	SNP	T	TCGA-EJ-5527-01A-01D-1576-08	15342150	171821588	9093672	30	3805											
SLC22A7	10864	broad.mit.edu	37	chr6	43270068	43270068	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgctggtctacttgtcggtgCgctacgcaggacgccgcctc	4	10	13	14	5	1	0	0	0	1	0	3	1	1	1	2	3	4	3	2	3	2	3			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr6:43270068C>T	ENST00000372585.5	+	8	1287	c.1192C>T	c.(1192-1194)Cgc>Tgc	p.R398C	SLC22A7_ENST00000372574.3_Missense_Mutation_p.R396C|SLC22A7_ENST00000372589.3_Missense_Mutation_p.R396C	NM_153320.2	NP_696961.2	Q9Y694	S22A7_HUMAN	solute carrier family 22 (organic anion transporter), member 7	398					organic anion transport (GO:0015711)|response to stilbenoid (GO:0035634)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	sodium-independent organic anion transmembrane transporter activity (GO:0015347)	p.R398C(1)		NS(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(1)|skin(3)	26			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00998)|OV - Ovarian serous cystadenocarcinoma(102;0.0305)		Acetylsalicylic acid(DB00945)|Allopurinol(DB00437)|Aminohippurate(DB00345)|Bumetanide(DB00887)|Cefalotin(DB00456)|Cefamandole(DB01326)|Cefoperazone(DB01329)|Cefotaxime(DB00493)|Cimetidine(DB00501)|Clarithromycin(DB01211)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Docetaxel(DB01248)|Enalapril(DB00584)|Erythromycin(DB00199)|Fluorouracil(DB00544)|Ganciclovir(DB01004)|Glyburide(DB01016)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Methotrexate(DB00563)|Minocycline(DB01017)|Oxtriphylline(DB01303)|Oxytetracycline(DB00595)|Pravastatin(DB00175)|Probenecid(DB01032)|Rifampicin(DB01045)|Salicylic acid(DB00936)|Testosterone(DB00624)|Tetracycline(DB00759)|Theophylline(DB00277)|Valproic Acid(DB00313)|Zalcitabine(DB00943)|Zidovudine(DB00495)	CTTGTCGGTGCGCTACGCAGG	0.637																																						ENST00000372585.5																			1	Substitution - Missense(1)	p.R398C(1)	prostate(1)	NS(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(1)|skin(3)	26						c.(1192-1194)Cgc>Tgc		solute carrier family 22 (organic anion transporter), member 7							85	70	75					6																	43270068		2203	4300	6503	SO:0001583	missense	10864					basolateral plasma membrane|integral to plasma membrane|membrane fraction	anion:anion antiporter activity|sodium-independent organic anion transmembrane transporter activity	g.chr6:43270068C>T	AF097518	CCDS4892.1, CCDS4893.2	6p21.1	2013-05-22			ENSG00000137204	ENSG00000137204		"Solute carriers"	10971	protein-coding gene	gene with protein product		604995				9650585, 10773670	Standard	XM_006714970		Approved	NLT, OAT2	uc003out.3	Q9Y694	OTTHUMG00000014726	ENST00000372585.5:c.1192C>T	6.37:g.43270068C>T	ENSP00000361666:p.Arg398Cys					SLC22A7_ENST00000372574.3_Missense_Mutation_p.R396C|SLC22A7_ENST00000372589.3_Missense_Mutation_p.R396C	p.R398C	NM_153320.2	NP_696961.2	Q9Y694	S22A7_HUMAN	Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00998)|OV - Ovarian serous cystadenocarcinoma(102;0.0305)		8	1287	+			398					B2CZX6|Q5T046|Q5T048|Q5T050|Q9H2W5	Missense_Mutation	SNP	ENST00000372585.5	37	c.1192C>T	CCDS4893.2	.	.	.	.	.	.	.	.	.	.	C	16.95	3.262101	0.59431	.	.	ENSG00000137204	ENST00000372589;ENST00000372585;ENST00000372574;ENST00000436107	T;T;T;T	0.65916	-0.18;-0.18;-0.18;0.23	5.27	5.27	0.74061	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.343274	0.31859	N	0.006947	T	0.74749	0.3757	M	0.86178	2.8	0.58432	D	0.999993	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.75020	0.985;0.975;0.975	T	0.78219	-0.2289	10	0.56958	D	0.05	.	11.5165	0.50524	0.1789:0.8211:0.0:0.0	.	398;396;396	Q9Y694;Q9Y694-2;Q9Y694-3	S22A7_HUMAN;.;.	C	396;398;396;91	ENSP00000361670:R396C;ENSP00000361666:R398C;ENSP00000361655:R396C;ENSP00000393836:R91C	ENSP00000361655:R396C	R	+	1	0	SLC22A7	43378046	1.000000	0.71417	0.839000	0.33178	0.639000	0.38242	2.351000	0.44071	2.468000	0.83385	0.462000	0.41574	CGC		0.637	SLC22A7-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000040588.1			14	35	0	0	0	0.00316338	0	14	35					T	43270068	C	T	43270068	3	4	73	1	0	0	0	0	1	0	0	0	14459	768	27	1	1218	1	SLC22A7	6	43270068	Missense_Mutation	SNP	C	TCGA-EJ-5527-01A-01D-1576-08		43270068	127844999	31	3806											
GRM3	2913	broad.mit.edu	37	chr7	86468360	86468360	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtccccacttcccagtgcagCgacccctgtgcccccaatga	7	7	8	19	1	0	1	0	1	0	0	2	2	2	1	7	0	3	1	7	0	1	1	rs527768281	byFrequency	TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr7:86468360C>T	ENST00000361669.2	+	4	2629	c.1530C>T	c.(1528-1530)agC>agT	p.S510S	GRM3_ENST00000546348.1_Silent_p.S102S|GRM3_ENST00000439827.1_Intron|GRM3_ENST00000536043.1_Silent_p.S382S|GRM3_ENST00000394720.2_Intron	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3	510					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|negative regulation of adenylate cyclase activity (GO:0007194)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)	astrocyte projection (GO:0097449)|axon (GO:0030424)|dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	calcium channel regulator activity (GO:0005246)|G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group II metabotropic glutamate receptor activity (GO:0001641)	p.S510S(1)		NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)					CCCAGTGCAGCGACCCCTGTG	0.512													C|||	2	0.000399361	0	0	5008	,	,		20635	0		0	False		,,,				2504	0.002				GBM(52;969 1098 3139 52280)	ENST00000361669.2																			1	Substitution - coding silent(1)	p.S510S(1)	prostate(1)	NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109						c.(1528-1530)agC>agT		glutamate receptor, metabotropic 3	Acamprosate(DB00659)|Nicotine(DB00184)						85	79	81					7																	86468360		2203	4300	6503	SO:0001819	synonymous_variant	0				synaptic transmission	integral to plasma membrane		g.chr7:86468360C>T		CCDS5600.1	7q21.1-q21.2	2012-08-29			ENSG00000198822	ENSG00000198822		"GPCR / Class C : Glutamate receptors, metabotropic", "Glutamate receptors"	4595	protein-coding gene	gene with protein product		601115				8824806	Standard	NM_000840		Approved	GPRC1C, mGlu3, MGLUR3	uc003uid.3	Q14832	OTTHUMG00000022884	ENST00000361669.2:c.1530C>T	7.37:g.86468360C>T						GRM3_ENST00000394720.2_Intron|GRM3_ENST00000546348.1_Silent_p.S102S|GRM3_ENST00000536043.1_Silent_p.S382S|GRM3_ENST00000439827.1_Intron	p.S510S	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN			4	2629	+	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)		510					Q2PNZ6|Q75MV4|Q75N17|Q86YG6|Q8TBH9	Silent	SNP	ENST00000361669.2	37	c.1530C>T	CCDS5600.1																																																																																				0.512	GRM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253362.2			35	134	0	0	0	0.0024448	0	35	134					T	86468360	C	T	86468360	2	4	73	1	0	0	0	0	0	0	0	1	6798	767	27	1		1	GRM3	7	86468360	Silent	SNP	C	TCGA-EJ-5527-01A-01D-1576-08		86468360	72670303	32	3807											
LRGUK	136332	broad.mit.edu	37	chr7	133859312	133859312	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttctttgattgaacagattgCtgagctgagagaaatagaat	14	13	10	4	0	1	7	0	4	1	3	1	8	1	7	0	0	3	2	0	0	4	5			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr7:133859312C>T	ENST00000285928.2	+	8	1013	c.944C>T	c.(943-945)gCt>gTt	p.A315V		NM_144648.1	NP_653249.1	Q96M69	LRGUK_HUMAN	leucine-rich repeats and guanylate kinase domain containing	315						cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|kinase activity (GO:0016301)	p.A315V(2)		breast(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	49						GAACAGATTGCTGAGCTGAGA	0.313																																						ENST00000285928.2																			2	Substitution - Missense(2)	p.A315V(2)	prostate(2)	breast(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	49						c.(943-945)gCt>gTt		leucine-rich repeats and guanylate kinase domain containing							53	63	60					7																	133859312		2202	4296	6498	SO:0001583	missense	136332						ATP binding|kinase activity	g.chr7:133859312C>T	AK057348	CCDS5830.1	7q33	2006-10-27			ENSG00000155530	ENSG00000155530			21964	protein-coding gene	gene with protein product							Standard	NM_144648		Approved	FLJ32786	uc003vrm.1	Q96M69	OTTHUMG00000155320	ENST00000285928.2:c.944C>T	7.37:g.133859312C>T	ENSP00000285928:p.Ala315Val						p.A315V	NM_144648.1	NP_653249.1	Q96M69	LRGUK_HUMAN			8	1013	+			315					Q2M3I1	Missense_Mutation	SNP	ENST00000285928.2	37	c.944C>T	CCDS5830.1	.	.	.	.	.	.	.	.	.	.	C	15.04	2.714000	0.48622	.	.	ENSG00000155530	ENST00000285928	T	0.24538	1.85	5.61	3.72	0.42706	.	0.413089	0.24443	N	0.038491	T	0.24586	0.0596	L	0.55103	1.725	0.23346	N	0.997867	B	0.24533	0.105	B	0.24006	0.05	T	0.20174	-1.0283	10	0.62326	D	0.03	-3.1388	9.254	0.37573	0.3031:0.5588:0.1381:0.0	.	315	Q96M69	LRGUK_HUMAN	V	315	ENSP00000285928:A315V	ENSP00000285928:A315V	A	+	2	0	LRGUK	133509852	1.000000	0.71417	0.998000	0.56505	0.903000	0.53119	1.523000	0.35932	0.644000	0.30656	0.462000	0.41574	GCT		0.313	LRGUK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339442.1	NM_144648		6	185	0	0	0	0.00198382	0	6	185					T	133859312	C	T	133859312	3	4	73	1	0	0	0	0	1	0	0	0	8943	797	28	3	974	3	LRGUK	7	133859312	Missense_Mutation	SNP	C	TCGA-EJ-5527-01A-01D-1576-08	47390952	133859312	25279351	33	3808											
RCL1	10171	broad.mit.edu	37	chr9	4841318	4841318	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	caagttcatacctgatatctAtatttacacagatcacatga	15	13	4	9	0	3	3	2	2	1	1	3	3	3	3	1	0	2	1	1	0	6	7			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr9:4841318A>G	ENST00000381750.4	+	6	894	c.671A>G	c.(670-672)tAt>tGt	p.Y224C	RCL1_ENST00000448872.2_Missense_Mutation_p.Y38C|RCL1_ENST00000381728.1_Missense_Mutation_p.Y38C|RCL1_ENST00000381730.1_Missense_Mutation_p.Y38C	NM_005772.3	NP_005763.3	Q9Y2P8	RCL1_HUMAN	RNA terminal phosphate cyclase-like 1	224					ribosome biogenesis (GO:0042254)|RNA processing (GO:0006396)	nucleolus (GO:0005730)	catalytic activity (GO:0003824)			breast(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	9	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.0206)|Breast(48;0.147)		GBM - Glioblastoma multiforme(50;0.0244)		CCTGATATCTATATTTACACA	0.438																																						ENST00000381750.4																			0				breast(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	9						c.(670-672)tAt>tGt		RNA terminal phosphate cyclase-like 1							129	117	121					9																	4841318		2203	4300	6503	SO:0001583	missense	10171				ribosome biogenesis|RNA processing	nucleolus	RNA-3'-phosphate cyclase activity	g.chr9:4841318A>G	AJ276894	CCDS6456.1, CCDS69565.1, CCDS75810.1	9p24.1-p23	2008-02-05			ENSG00000120158	ENSG00000120158			17687	protein-coding gene	gene with protein product		611405					Standard	NM_001286701		Approved	RPCL1, RNAC	uc003zis.2	Q9Y2P8	OTTHUMG00000019474	ENST00000381750.4:c.671A>G	9.37:g.4841318A>G	ENSP00000371169:p.Tyr224Cys					RCL1_ENST00000381730.1_Missense_Mutation_p.Y38C|RCL1_ENST00000448872.2_Missense_Mutation_p.Y38C|RCL1_ENST00000381728.1_Missense_Mutation_p.Y38C	p.Y224C	NM_005772.3	NP_005763.3	Q9Y2P8	RCL1_HUMAN		GBM - Glioblastoma multiforme(50;0.0244)	6	894	+	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.0206)|Breast(48;0.147)	224					D3DRI2|Q5VYW9|Q5VZU1|Q9H9D0|Q9NY00|Q9P044	Missense_Mutation	SNP	ENST00000381750.4	37	c.671A>G	CCDS6456.1	.	.	.	.	.	.	.	.	.	.	A	24.4	4.522155	0.85600	.	.	ENSG00000120158	ENST00000381750;ENST00000442869;ENST00000381730;ENST00000381728;ENST00000448872;ENST00000441844	.	.	.	5.74	5.74	0.90152	-terminal phosphate cyclase, insert domain (1);-terminal phosphate cyclase-like, eukaryotic (2);-terminal phosphate cyclase domain (2);RNA 3&apos (7);-terminal phosphate cyclase/enolpyruvate transferase, alpha/beta (1);-terminal phosphate cyclase (1);	0.111081	0.64402	D	0.000005	D	0.85831	0.5788	M	0.92268	3.29	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.97110	1.0;0.981	D	0.88039	0.2780	9	0.48119	T	0.1	-20.675	16.3305	0.83010	1.0:0.0:0.0:0.0	.	38;224	Q5VZU1;Q9Y2P8	.;RCL1_HUMAN	C	224;66;38;38;38;38	.	ENSP00000371147:Y38C	Y	+	2	0	RCL1	4831318	1.000000	0.71417	0.998000	0.56505	0.988000	0.76386	9.310000	0.96267	2.317000	0.78254	0.459000	0.35465	TAT		0.438	RCL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051587.1	NM_005772		4	287	0	0	0	0.00024832	0	4	287					G	4841318	A	G	4841318	3	3	73	1	0	0	0	0	1	0	0	0	13178	449	16	4	693	4	RCL1	9	4841318	Missense_Mutation	SNP	A	TCGA-EJ-5527-01A-01D-1576-08		4841318	136372113	34	3809											
SURF4	6836	broad.mit.edu	37	chr9	136231748	136231748	+	Frame_Shift_Del	DEL	T	T	-																															ggcgtcaaagtgaaggagggTcatgaacatcagaaccagca																										TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr9:136231748delT	ENST00000371989.3	-	5	640	c.511delA	c.(511-513)accfs	p.T171fs	SURF4_ENST00000485435.2_Intron|SURF4_ENST00000467910.1_5'UTR|SURF4_ENST00000545297.1_Intron|SURF4_ENST00000371991.3_Frame_Shift_Del_p.T171fs	NM_001280788.1|NM_001280790.1|NM_001280791.1|NM_033161.2	NP_001267717.1|NP_001267719.1|NP_001267720.1|NP_149351.1	O15260	SURF4_HUMAN	surfeit 4	171					Golgi organization (GO:0007030)|positive regulation of organelle organization (GO:0010638)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				kidney(1)|large_intestine(2)|lung(5)	8				OV - Ovarian serous cystadenocarcinoma(145;5.32e-07)|Epithelial(140;4.56e-06)|all cancers(34;4.25e-05)		TGAAGGAGGGTCATGAACATC	0.562																																						ENST00000371989.3																			0				kidney(1)|large_intestine(2)|lung(5)	8						c.(511-513)ccfs		surfeit 4							100	80	87					9																	136231748		2203	4300	6503	SO:0001589	frameshift_variant	6836					endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane	protein binding	g.chr9:136231748delT		CCDS6968.1, CCDS65177.1, CCDS65178.1, CCDS75929.1	9q33-q34	2008-07-21			ENSG00000148248	ENSG00000148248			11476	protein-coding gene	gene with protein product	"surfeit locus protein 4", "surface 4 integral membrane protein"	185660				8499913, 7540914	Standard	NM_033161		Approved	ERV29, FLJ22993, MGC102753	uc004cdj.3	O15260	OTTHUMG00000020868	ENST00000371989.3:c.511delA	9.37:g.136231748delT	ENSP00000361057:p.Thr171fs					SURF4_ENST00000485435.2_Intron|SURF4_ENST00000545297.1_Intron|SURF4_ENST00000467910.1_5'UTR|SURF4_ENST00000371991.3_Frame_Shift_Del_p.T171fs	p.T171fs	NM_033161.2	NP_149351.1	O15260	SURF4_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.32e-07)|Epithelial(140;4.56e-06)|all cancers(34;4.25e-05)	5	640	-			171					B7Z6A4|O60923|Q5T8U6|Q9UNZ0|Q9UNZ1	Frame_Shift_Del	DEL	ENST00000371989.3	37	c.511delA	CCDS6968.1																																																																																				0.562	SURF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054886.1	NM_033161		12	69						12	69	---	---	---	---	-	136231748	T	-	136231748	7	5	73	1	0	1	0	1	0	0	0	0	15402	1667	58	0	306	0	SURF4	9	136231748	Frame_Shift_Del	DEL	T	TCGA-EJ-5527-01A-01D-1576-08	131390430	136231748	4981683	35	3810											
ADAMTS13	11093	broad.mit.edu	37	chr9	136313725	136313725	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctttgtccacgcaggtctgAtggagctgcgtttcctgtgc	4	13	13	11	2	1	1	0	1	1	0	3	2	3	2	2	2	3	4	2	2	0	2			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr9:136313725A>C	ENST00000371929.3	+	22	3181	c.2737A>C	c.(2737-2739)Atg>Ctg	p.M913L	ADAMTS13_ENST00000371916.1_3'UTR|ADAMTS13_ENST00000485925.1_3'UTR|ADAMTS13_ENST00000355699.2_Missense_Mutation_p.M913L|ADAMTS13_ENST00000356589.2_Missense_Mutation_p.M882L|ADAMTS13_ENST00000536611.1_3'UTR	NM_139025.3|NM_139027.3	NP_620594.1|NP_620596.2	Q76LX8	ATS13_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 13	913	TSP type-1 5. {ECO:0000255|PROSITE- ProRule:PRU00210}.				cell-matrix adhesion (GO:0007160)|glycoprotein metabolic process (GO:0009100)|integrin-mediated signaling pathway (GO:0007229)|peptide catabolic process (GO:0043171)|platelet activation (GO:0030168)|protein processing (GO:0016485)|proteolysis (GO:0006508)|response to interferon-gamma (GO:0034341)|response to interleukin-4 (GO:0070670)|response to tumor necrosis factor (GO:0034612)	cell surface (GO:0009986)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.M913L(2)		central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(4)	36				OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05)		CGCAGGTCTGATGGAGCTGCG	0.632																																						ENST00000371929.3																			2	Substitution - Missense(2)	p.M913L(2)	prostate(2)	central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(4)	36						c.(2737-2739)Atg>Ctg		ADAM metallopeptidase with thrombospondin type 1 motif, 13							111	114	113					9																	136313725		2203	4300	6503	SO:0001583	missense	11093				cell-matrix adhesion|glycoprotein metabolic process|integrin-mediated signaling pathway|peptide catabolic process|platelet activation|protein processing|proteolysis	cell surface|proteinaceous extracellular matrix	calcium ion binding|integrin binding|metalloendopeptidase activity|zinc ion binding	g.chr9:136313725A>C	AJ011374	CCDS6970.1, CCDS6971.1, CCDS6972.1	9q34	2008-07-21	2005-08-19	2001-09-21	ENSG00000160323	ENSG00000160323		"ADAM metallopeptidases with thrombospondin type 1 motif"	1366	protein-coding gene	gene with protein product		604134	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 13"	C9orf8		11557746, 11535495	Standard	NM_139025		Approved	VWFCP, TTP, vWF-CP, FLJ42993, MGC118899, MGC118900, DKFZp434C2322	uc004cdv.4	Q76LX8	OTTHUMG00000020876	ENST00000371929.3:c.2737A>C	9.37:g.136313725A>C	ENSP00000360997:p.Met913Leu					ADAMTS13_ENST00000356589.2_Missense_Mutation_p.M882L|ADAMTS13_ENST00000355699.2_Missense_Mutation_p.M913L|ADAMTS13_ENST00000371916.1_3'UTR|ADAMTS13_ENST00000536611.1_3'UTR|ADAMTS13_ENST00000485925.1_3'UTR	p.M913L	NM_139025.3|NM_139027.3	NP_620594.1|NP_620596.2	Q76LX8	ATS13_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05)	22	3181	+			913			TSP type-1 5.		Q6UY16|Q710F6|Q711T8|Q96L37|Q9H0G3|Q9UGQ1	Missense_Mutation	SNP	ENST00000371929.3	37	c.2737A>C	CCDS6970.1	.	.	.	.	.	.	.	.	.	.	A	4.487	0.090320	0.08632	.	.	ENSG00000160323	ENST00000371929;ENST00000355699;ENST00000356589	T;T;T	0.67171	-0.21;-0.25;-0.23	5.39	0.0901	0.14462	.	.	.	.	.	T	0.46054	0.1373	N	0.25647	0.755	0.09310	N	0.999998	B;B;B	0.11235	0.003;0.004;0.004	B;B;B	0.09377	0.002;0.004;0.004	T	0.22208	-1.0223	9	0.22109	T	0.4	.	4.6709	0.12689	0.5174:0.313:0.1696:0.0	.	913;882;913	Q76LX8;Q76LX8-3;Q76LX8-2	ATS13_HUMAN;.;.	L	913;913;882	ENSP00000360997:M913L;ENSP00000347927:M913L;ENSP00000348997:M882L	ENSP00000347927:M913L	M	+	1	0	ADAMTS13	135303546	0.252000	0.23972	0.000000	0.03702	0.380000	0.30137	0.506000	0.22658	-0.149000	0.11215	0.533000	0.62120	ATG		0.632	ADAMTS13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000054920.1	NM_139025		8	345	0	0	0	0.000442599	0	8	345					C	136313725	A	C	136313725	3	2	73	1	0	0	0	0	1	0	0	0	258	333	12	5	2823	5	ADAMTS13	9	136313725	Missense_Mutation	SNP	A	TCGA-EJ-5527-01A-01D-1576-08	81977	136313725	4899706	36	3811											
UAP1L1	91373	broad.mit.edu	37	chr9	139975242	139975242	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgcaccgctcgccaggcccTgctcacccagcactaccggt	6	5	9	21	4	1	0	1	0	0	0	2	0	1	0	6	2	3	4	6	2	1	1			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr9:139975242T>A	ENST00000409858.3	+	7	1312	c.1280T>A	c.(1279-1281)cTg>cAg	p.L427Q	UAP1L1_ENST00000360271.3_Missense_Mutation_p.L304Q	NM_207309.2	NP_997192.2	Q3KQV9	UAP1L_HUMAN	UDP-N-acetylglucosamine pyrophosphorylase 1 like 1	427							uridylyltransferase activity (GO:0070569)			kidney(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	8	all_cancers(76;0.0926)	Myeloproliferative disorder(178;0.0821)	STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;2.96e-05)|Epithelial(140;0.000486)		CGCCAGGCCCTGCTCACCCAG	0.677																																						ENST00000409858.3																			0				kidney(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	8						c.(1279-1281)cTg>cAg		UDP-N-acteylglucosamine pyrophosphorylase 1-like 1							39	42	41					9																	139975242		2202	4300	6502	SO:0001583	missense	91373						nucleotidyltransferase activity	g.chr9:139975242T>A	AK022632	CCDS7028.2	9q34.3	2014-07-31	2014-07-31		ENSG00000197355	ENSG00000197355			28082	protein-coding gene	gene with protein product							Standard	NM_207309		Approved		uc010ncb.3	Q3KQV9	OTTHUMG00000020962	ENST00000409858.3:c.1280T>A	9.37:g.139975242T>A	ENSP00000386935:p.Leu427Gln					UAP1L1_ENST00000360271.3_Missense_Mutation_p.L304Q	p.L427Q	NM_207309.2	NP_997192.2	Q3KQV9	UAP1L_HUMAN	STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;2.96e-05)|Epithelial(140;0.000486)	7	1312	+	all_cancers(76;0.0926)	Myeloproliferative disorder(178;0.0821)	427					A2AMJ8|Q5SPZ2|Q69YQ3|Q6ZR38	Missense_Mutation	SNP	ENST00000409858.3	37	c.1280T>A	CCDS7028.2	.	.	.	.	.	.	.	.	.	.	T	17.58	3.424149	0.62733	.	.	ENSG00000197355	ENST00000409858;ENST00000360271	T;T	0.21031	2.03;2.03	4.09	4.09	0.47781	.	0.077412	0.52532	D	0.000061	T	0.49966	0.1588	M	0.86343	2.81	0.58432	D	0.999994	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.58707	-0.7589	10	0.87932	D	0	.	12.2499	0.54591	0.0:0.0:0.0:1.0	.	427;304	Q3KQV9;Q3KQV9-2	UAP1L_HUMAN;.	Q	427;304	ENSP00000386935:L427Q;ENSP00000353409:L304Q	ENSP00000353409:L304Q	L	+	2	0	UAP1L1	139095063	1.000000	0.71417	0.802000	0.32245	0.385000	0.30292	6.088000	0.71371	1.495000	0.48549	0.383000	0.25322	CTG		0.677	UAP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055216.2	XM_038063		4	92	0	0	0	0.000602214	0	4	92					A	139975242	T	A	139975242	3	1	73	1	0	0	0	0	1	0	0	0	16823	1580	55	5	1306	5	UAP1L1	9	139975242	Missense_Mutation	SNP	T	TCGA-EJ-5527-01A-01D-1576-08	3661517	139975242	1238189	37	3812											
GRIK4	2900	broad.mit.edu	37	chr11	120833172	120833172	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gttcttttcccagaattcccGctaccagacctaccaacgca	10	10	5	16	2	1	2	0	0	1	2	3	2	3	2	5	0	3	3	5	0	4	6			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr11:120833172G>A	ENST00000527524.2	+	18	2335	c.2048G>A	c.(2047-2049)cGc>cAc	p.R683H	GRIK4_ENST00000438375.2_Missense_Mutation_p.R683H	NM_001282470.1	NP_001269399.1	Q16099	GRIK4_HUMAN	glutamate receptor, ionotropic, kainate 4	683					glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|response to corticosteroid (GO:0031960)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|nucleus (GO:0005634)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	extracellular-glutamate-gated ion channel activity (GO:0005234)|kainate selective glutamate receptor activity (GO:0015277)	p.R683H(2)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(20)|liver(1)|lung(29)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	69		Breast(109;0.000868)|Medulloblastoma(222;0.0453)|all_neural(223;0.116)|all_hematologic(192;0.21)		BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.116)		CAGAATTCCCGCTACCAGACC	0.483																																						ENST00000527524.2																			2	Substitution - Missense(2)	p.R683H(2)	large_intestine(1)|prostate(1)	NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(20)|liver(1)|lung(29)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	69						c.(2047-2049)cGc>cAc		glutamate receptor, ionotropic, kainate 4	L-Glutamic Acid(DB00142)						59	54	56					11																	120833172		2203	4299	6502	SO:0001583	missense	2900				glutamate signaling pathway|synaptic transmission	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity	g.chr11:120833172G>A	S67803	CCDS8433.1	11q23.3	2012-08-29			ENSG00000149403	ENSG00000149403		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4582	protein-coding gene	gene with protein product		600282		GRIK			Standard	NM_001282470		Approved	GluK4, KA1	uc009zax.1	Q16099	OTTHUMG00000048255	ENST00000527524.2:c.2048G>A	11.37:g.120833172G>A	ENSP00000435648:p.Arg683His					GRIK4_ENST00000438375.2_Missense_Mutation_p.R683H	p.R683H			Q16099	GRIK4_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.116)	18	2335	+		Breast(109;0.000868)|Medulloblastoma(222;0.0453)|all_neural(223;0.116)|all_hematologic(192;0.21)	683					A8K9L1	Missense_Mutation	SNP	ENST00000527524.2	37	c.2048G>A	CCDS8433.1	.	.	.	.	.	.	.	.	.	.	G	35	5.421485	0.96111	.	.	ENSG00000149403	ENST00000527524;ENST00000438375	T;T	0.11385	2.78;2.78	5.69	5.69	0.88448	Ionotropic glutamate receptor (2);	0.083443	0.85682	D	0.000000	T	0.32734	0.0839	L	0.60845	1.875	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.00834	-1.1547	10	0.87932	D	0	.	19.3996	0.94623	0.0:0.0:1.0:0.0	.	683;683	A6H8K8;Q16099	.;GRIK4_HUMAN	H	683	ENSP00000435648:R683H;ENSP00000404063:R683H	ENSP00000404063:R683H	R	+	2	0	GRIK4	120338382	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.030000	0.88816	2.676000	0.91093	0.655000	0.94253	CGC		0.483	GRIK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109760.4	NM_014619		5	42	0	0	0	0.000602214	0	5	42					A	120833172	G	A	120833172	3	1	73	1	0	0	0	0	1	0	0	0	6776	1087	38	1	2110	1	GRIK4	11	120833172	Missense_Mutation	SNP	G	TCGA-EJ-5527-01A-01D-1576-08		120833172	14173344	38	3813											
GALNT8	26290	broad.mit.edu	37	chr12	4874640	4874640	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgacagaccctggcaaggcGgagaagcccaccttagaacc	12	4	11	14	1	0	4	0	1	0	3	0	5	0	4	4	3	2	1	4	3	4	1	rs192391682		TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr12:4874640G>A	ENST00000252318.2	+	10	2026	c.1689G>A	c.(1687-1689)gcG>gcA	p.A563A		NM_017417.1	NP_059113.1	Q9NY28	GALT8_HUMAN	polypeptide N-acetylgalactosaminyltransferase 8	563	Ricin B-type lectin. {ECO:0000255|PROSITE-ProRule:PRU00174}.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)	p.A563A(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	35						CTGGCAAGGCGGAGAAGCCCA	0.463													g|||	1	0.000199681	0	0	5008	,	,		18368	0.001		0	False		,,,				2504	0				Colon(108;631 1558 7270 20097 39846)	ENST00000252318.2																			1	Substitution - coding silent(1)	p.A563A(1)	prostate(1)	central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	35						c.(1687-1689)gcG>gcA		UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 8 (GalNAc-T8)							132	126	128					12																	4874640		2203	4300	6503	SO:0001819	synonymous_variant	26290					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr12:4874640G>A	AJ271385	CCDS8533.1	12p13.32	2014-03-13	2014-03-13		ENSG00000130035	ENSG00000130035	2.4.1.41	"Glycosyltransferase family 2 domain containing"	4130	protein-coding gene	gene with protein product	"polypeptide GalNAc transferase 8"	606250	"UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 8 (GalNAc-T8)"			10767557	Standard	NM_017417		Approved	GALNAC-T8	uc001qne.1	Q9NY28	OTTHUMG00000166188	ENST00000252318.2:c.1689G>A	12.37:g.4874640G>A							p.A563A	NM_017417.1	NP_059113.1	Q9NY28	GALT8_HUMAN			10	2026	+			563			Ricin B-type lectin.		B2RU02	Silent	SNP	ENST00000252318.2	37	c.1689G>A	CCDS8533.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	g	3.374	-0.127801	0.06753	.	.	ENSG00000130035	ENST00000542998;ENST00000535354	.	.	.	4.19	1.31	0.21738	.	.	.	.	.	T	0.31827	0.0809	.	.	.	0.21020	N	0.999806	.	.	.	.	.	.	T	0.23833	-1.0177	4	.	.	.	.	6.6625	0.23022	0.3137:0.0:0.6863:0.0	.	.	.	.	Q	80;59	.	.	R	+	2	0	GALNT8	4744901	0.120000	0.22244	0.019000	0.16419	0.005000	0.04900	0.083000	0.14871	0.439000	0.26476	-0.698000	0.03680	CGG		0.463	GALNT8-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388277.2	NM_017417		5	98	0	0	0	0.000602214	0	5	98					A	4874640	G	A	4874640	2	1	73	1	0	0	0	0	0	0	0	1	6219	1103	39	2		2	GALNT8	12	4874640	Silent	SNP	G	TCGA-EJ-5527-01A-01D-1576-08		4874640	128977255	39	3814											
MYL6	4637	broad.mit.edu	37	chr12	56554423	56554423	+	Missense_Mutation	SNP	T	T	A																															cctgcagcgtttgtgaggcaTatcctgtcggggtgacgggc																										TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr12:56554423T>A	ENST00000550697.1	+	6	682	c.441T>A	c.(439-441)caT>caA	p.H147Q	MYL6_ENST00000549566.1_Intron|MYL6_ENST00000551589.1_3'UTR|MYL6_ENST00000348108.4_Missense_Mutation_p.H148Q|MYL6_ENST00000536128.1_3'UTR|MYL6_ENST00000547408.1_Intron|MYL6_ENST00000547649.1_Intron|MYL6_ENST00000549017.1_Intron|MYL6_ENST00000293422.5_Intron|MYL6_ENST00000548580.1_Intron|RP11-603J24.14_ENST00000548731.1_RNA|MYL6_ENST00000548293.1_Missense_Mutation_p.H147Q|RP11-977G19.5_ENST00000553176.1_RNA|MYL6_ENST00000548400.1_Missense_Mutation_p.H111Q	NM_021019.4	NP_066299.2	P60660	MYL6_HUMAN	myosin, light chain 6, alkali, smooth muscle and non-muscle	147	EF-hand 3. {ECO:0000255|PROSITE- ProRule:PRU00448}.				ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|skeletal muscle tissue development (GO:0007519)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|myosin complex (GO:0016459)|unconventional myosin complex (GO:0016461)|vesicle (GO:0031982)	actin-dependent ATPase activity (GO:0030898)|calcium ion binding (GO:0005509)|motor activity (GO:0003774)|structural constituent of muscle (GO:0008307)	p.H147Q(1)		large_intestine(1)|lung(1)|ovary(1)|prostate(3)|skin(1)	7			OV - Ovarian serous cystadenocarcinoma(18;0.0979)			TTGTGAGGCATATCCTGTCGG	0.547																																						ENST00000550697.1																			1	Substitution - Missense(1)	p.H147Q(1)	prostate(1)	large_intestine(1)|lung(1)|ovary(1)|prostate(3)|skin(1)	7						c.(439-441)caT>caA		myosin, light chain 6, alkali, smooth muscle and non-muscle							206	187	193					12																	56554423		2203	4300	6503	SO:0001583	missense	4637				axon guidance|muscle filament sliding|skeletal muscle tissue development	cytosol|unconventional myosin complex	actin-dependent ATPase activity|calcium ion binding|motor activity|structural constituent of muscle	g.chr12:56554423T>A	AB046613	CCDS8906.1, CCDS31834.1	12q13.13	2013-01-10	2006-09-29			ENSG00000092841		"Myosins / Light chain", "EF-hand domain containing"	7587	protein-coding gene	gene with protein product		609931	"myosin, light polypeptide 6, alkali, smooth muscle and non-muscle"			8188229, 2304459, 2722814	Standard	NM_021019		Approved	ESMLC, MLC3NM, MLC1SM	uc001sjx.2	P60660		ENST00000550697.1:c.441T>A	12.37:g.56554423T>A	ENSP00000446955:p.His147Gln					MYL6_ENST00000348108.4_Missense_Mutation_p.H148Q|MYL6_ENST00000536128.1_3'UTR|MYL6_ENST00000551589.1_3'UTR|MYL6_ENST00000549566.1_Intron|MYL6_ENST00000548580.1_Intron|MYL6_ENST00000549017.1_Intron|MYL6_ENST00000547649.1_Intron|MYL6_ENST00000293422.5_Intron|MYL6_ENST00000548400.1_Missense_Mutation_p.H111Q|MYL6_ENST00000547408.1_Intron|MYL6_ENST00000548293.1_Missense_Mutation_p.H147Q	p.H147Q	NM_021019.4	NP_066299.2	P60660	MYL6_HUMAN	OV - Ovarian serous cystadenocarcinoma(18;0.0979)		6	682	+			147			EF-hand 3.		P16475|P24572|P24573|Q12790|Q561V9|Q6IAZ0|Q6IPY5	Missense_Mutation	SNP	ENST00000550697.1	37	c.441T>A	CCDS8906.1	.	.	.	.	.	.	.	.	.	.	T	13.24	2.178970	0.38511	.	.	ENSG00000092841	ENST00000550697;ENST00000348108;ENST00000548400;ENST00000548293	T;T;T;T	0.79454	-1.27;-1.27;-1.27;-1.27	4.14	4.14	0.48551	EF-hand-like domain (1);	.	.	.	.	T	0.69124	0.3076	L	0.53780	1.695	0.42430	D	0.992675	B	0.02656	0.0	B	0.04013	0.001	T	0.67872	-0.5558	9	0.49607	T	0.09	.	5.3756	0.16164	0.0:0.201:0.0:0.799	.	147	P60660	MYL6_HUMAN	Q	147;148;111;147	ENSP00000446955:H147Q;ENSP00000301540:H148Q;ENSP00000448859:H111Q;ENSP00000448101:H147Q	ENSP00000301540:H148Q	H	+	3	2	MYL6	54840690	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.982000	0.49337	1.895000	0.54865	0.459000	0.35465	CAT		0.547	MYL6-003	KNOWN	NAGNAG_splice_site|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000407928.3			14	351	0	0	0	0.00327116	0	14	351					A	56554423	T	A	56554423	3	1	73	1	0	0	0	0	1	0	0	0	10051	1403	49	5	463	5	MYL6	12	56554423	Missense_Mutation	SNP	T	TCGA-EJ-5527-01A-01D-1576-08	51679783	56554423	77297472	40	3815	23	2									
MYL6	4637	broad.mit.edu	37	chr12	56554425	56554425	+	Missense_Mutation	SNP	T	T	G																															tgcagcgtttgtgaggcataTcctgtcggggtgacgggccc																										TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr12:56554425T>G	ENST00000550697.1	+	6	684	c.443T>G	c.(442-444)aTc>aGc	p.I148S	MYL6_ENST00000549566.1_Intron|MYL6_ENST00000551589.1_3'UTR|MYL6_ENST00000348108.4_Missense_Mutation_p.I149S|MYL6_ENST00000536128.1_3'UTR|MYL6_ENST00000547408.1_Intron|MYL6_ENST00000547649.1_Intron|MYL6_ENST00000549017.1_Intron|MYL6_ENST00000293422.5_Intron|MYL6_ENST00000548580.1_Intron|RP11-603J24.14_ENST00000548731.1_RNA|MYL6_ENST00000548293.1_Missense_Mutation_p.I148S|RP11-977G19.5_ENST00000553176.1_RNA|MYL6_ENST00000548400.1_Missense_Mutation_p.I112S	NM_021019.4	NP_066299.2	P60660	MYL6_HUMAN	myosin, light chain 6, alkali, smooth muscle and non-muscle	148	EF-hand 3. {ECO:0000255|PROSITE- ProRule:PRU00448}.				ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|skeletal muscle tissue development (GO:0007519)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|myosin complex (GO:0016459)|unconventional myosin complex (GO:0016461)|vesicle (GO:0031982)	actin-dependent ATPase activity (GO:0030898)|calcium ion binding (GO:0005509)|motor activity (GO:0003774)|structural constituent of muscle (GO:0008307)	p.I148S(1)		large_intestine(1)|lung(1)|ovary(1)|prostate(3)|skin(1)	7			OV - Ovarian serous cystadenocarcinoma(18;0.0979)			GTGAGGCATATCCTGTCGGGG	0.547																																						ENST00000550697.1																			1	Substitution - Missense(1)	p.I148S(1)	prostate(1)	large_intestine(1)|lung(1)|ovary(1)|prostate(3)|skin(1)	7						c.(442-444)aTc>aGc		myosin, light chain 6, alkali, smooth muscle and non-muscle							203	184	190					12																	56554425		2203	4300	6503	SO:0001583	missense	4637				axon guidance|muscle filament sliding|skeletal muscle tissue development	cytosol|unconventional myosin complex	actin-dependent ATPase activity|calcium ion binding|motor activity|structural constituent of muscle	g.chr12:56554425T>G	AB046613	CCDS8906.1, CCDS31834.1	12q13.13	2013-01-10	2006-09-29			ENSG00000092841		"Myosins / Light chain", "EF-hand domain containing"	7587	protein-coding gene	gene with protein product		609931	"myosin, light polypeptide 6, alkali, smooth muscle and non-muscle"			8188229, 2304459, 2722814	Standard	NM_021019		Approved	ESMLC, MLC3NM, MLC1SM	uc001sjx.2	P60660		ENST00000550697.1:c.443T>G	12.37:g.56554425T>G	ENSP00000446955:p.Ile148Ser					MYL6_ENST00000348108.4_Missense_Mutation_p.I149S|MYL6_ENST00000536128.1_3'UTR|MYL6_ENST00000551589.1_3'UTR|MYL6_ENST00000549566.1_Intron|MYL6_ENST00000548580.1_Intron|MYL6_ENST00000549017.1_Intron|MYL6_ENST00000547649.1_Intron|MYL6_ENST00000293422.5_Intron|MYL6_ENST00000548400.1_Missense_Mutation_p.I112S|MYL6_ENST00000547408.1_Intron|MYL6_ENST00000548293.1_Missense_Mutation_p.I148S	p.I148S	NM_021019.4	NP_066299.2	P60660	MYL6_HUMAN	OV - Ovarian serous cystadenocarcinoma(18;0.0979)		6	684	+			148			EF-hand 3.		P16475|P24572|P24573|Q12790|Q561V9|Q6IAZ0|Q6IPY5	Missense_Mutation	SNP	ENST00000550697.1	37	c.443T>G	CCDS8906.1	.	.	.	.	.	.	.	.	.	.	T	18.82	3.705002	0.68615	.	.	ENSG00000092841	ENST00000550697;ENST00000348108;ENST00000548400;ENST00000548293	T;T;T;T	0.81415	-1.49;-1.49;-1.49;-1.49	4.14	4.14	0.48551	EF-hand-like domain (1);	.	.	.	.	D	0.82655	0.5084	M	0.86097	2.795	0.53688	D	0.999977	B	0.24618	0.107	B	0.28991	0.097	D	0.83812	0.0242	9	0.87932	D	0	.	12.6043	0.56514	0.0:0.0:0.0:1.0	.	148	P60660	MYL6_HUMAN	S	148;149;112;148	ENSP00000446955:I148S;ENSP00000301540:I149S;ENSP00000448859:I112S;ENSP00000448101:I148S	ENSP00000301540:I149S	I	+	2	0	MYL6	54840692	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.669000	0.74462	1.895000	0.54865	0.459000	0.35465	ATC		0.547	MYL6-003	KNOWN	NAGNAG_splice_site|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000407928.3			14	342	0	0	0	0.00283554	0	14	342					G	56554425	T	G	56554425	3	3	73	1	0	0	0	0	1	0	0	0	10051	1435	50	5	465	5	MYL6	12	56554425	Missense_Mutation	SNP	T	TCGA-EJ-5527-01A-01D-1576-08	2	56554425	77297470	41	3816	23	2									
DPY19L2	283417	broad.mit.edu	37	chr12	63976243	63976243	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgcggtgtcaaaaacatcttTagcctcataattaaaatggc	14	12	7	8	1	3	0	2	0	1	0	3	0	3	0	1	2	3	0	1	2	6	4			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr12:63976243T>C	ENST00000324472.4	-	18	1851	c.1668A>G	c.(1666-1668)ctA>ctG	p.L556L	DPY19L2_ENST00000413230.2_Silent_p.L3L	NM_173812.4	NP_776173.3	Q6NUT2	D19L2_HUMAN	dpy-19-like 2 (C. elegans)	556					multicellular organismal development (GO:0007275)|spermatid development (GO:0007286)	integral component of membrane (GO:0016021)|nuclear inner membrane (GO:0005637)|nucleus (GO:0005634)	transferase activity, transferring glycosyl groups (GO:0016757)	p.L556L(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	45			GBM - Glioblastoma multiforme(1;2.77e-05)	GBM - Glioblastoma multiforme(28;0.044)		AAAACATCTTTAGCCTCATAA	0.343																																						ENST00000324472.4																			1	Substitution - coding silent(1)	p.L556L(1)	prostate(1)	breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						c.(1666-1668)ctA>ctG		dpy-19-like 2 (C. elegans)							70	64	66					12																	63976243		2203	4300	6503	SO:0001819	synonymous_variant	283417				multicellular organismal development|spermatid development	integral to membrane		g.chr12:63976243T>C		CCDS31851.1	12q14.2	2012-11-14			ENSG00000177990	ENSG00000177990			19414	protein-coding gene	gene with protein product	"spermatogenesis associated 34"	613893				12975309	Standard	XM_006719348		Approved	FLJ32949, SPATA34	uc001srp.1	Q6NUT2	OTTHUMG00000168712	ENST00000324472.4:c.1668A>G	12.37:g.63976243T>C						DPY19L2_ENST00000413230.2_Silent_p.L3L	p.L556L	NM_173812.4	NP_776173.3	Q6NUT2	D19L2_HUMAN	GBM - Glioblastoma multiforme(1;2.77e-05)	GBM - Glioblastoma multiforme(28;0.044)	18	1851	-			556					A4FVC1|B4E191|Q3ZCX2|Q6UWG8|Q96LZ9	Silent	SNP	ENST00000324472.4	37	c.1668A>G	CCDS31851.1																																																																																				0.343	DPY19L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400689.2	NM_173812		23	82	0	0	0	0.00465635	0	23	82					C	63976243	T	C	63976243	2	2	73	1	0	0	0	0	0	0	0	1	4741	1741	61	4		4	DPY19L2	12	63976243	Silent	SNP	T	TCGA-EJ-5527-01A-01D-1576-08	7421818	63976243	69875652	42	3817											
SLC6A15	55117	broad.mit.edu	37	chr12	85270374	85270374	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cacatatggaaacagagaacTaaaatatatgatctgcaaag	20	8	7	6	0	1	2	0	1	1	1	1	4	1	3	0	1	3	1	0	1	8	4			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr12:85270374T>A	ENST00000266682.5	-	6	1310	c.769A>T	c.(769-771)Agt>Tgt	p.S257C	SLC6A15_ENST00000551388.1_5'UTR|SLC6A15_ENST00000552192.1_Missense_Mutation_p.S150C	NM_182767.5	NP_877499.1	Q9H2J7	S6A15_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 15	257					amino acid transport (GO:0006865)|ion transport (GO:0006811)|leucine transport (GO:0015820)|neurotransmitter transport (GO:0006836)|neutral amino acid transport (GO:0015804)|proline transport (GO:0015824)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neurotransmitter transporter activity (GO:0005326)|neurotransmitter:sodium symporter activity (GO:0005328)|proline:sodium symporter activity (GO:0005298)	p.S257C(1)		kidney(1)|large_intestine(18)|lung(15)|ovary(1)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	44						AACAGAGAACTAAAATATATG	0.303																																						ENST00000266682.5																			1	Substitution - Missense(1)	p.S257C(1)	prostate(1)	kidney(1)|large_intestine(18)|lung(15)|ovary(1)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	44						c.(769-771)Agt>Tgt		solute carrier family 6 (neutral amino acid transporter), member 15							57	60	59					12																	85270374		2203	4298	6501	SO:0001583	missense	55117				cellular nitrogen compound metabolic process|leucine transport|proline transport	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity	g.chr12:85270374T>A	AF265577	CCDS9026.1, CCDS9027.1, CCDS53816.1	12q21.31	2013-07-15	2008-09-02		ENSG00000072041	ENSG00000072041		"Solute carriers"	13621	protein-coding gene	gene with protein product	"homolog of rat orphan transporter v7-3", "sodium/chloride dependent neurotransmitter transporter Homo sapiens orphan neurotransmitter transporter NTT7"	607971	"solute carrier family 6 (neurotransmitter transporter), member 15"			10471414, 11112352, 16185194	Standard	NM_182767		Approved	hv7-3, NTT73, FLJ10316, V7-3, SBAT1	uc001szv.4	Q9H2J7	OTTHUMG00000169742	ENST00000266682.5:c.769A>T	12.37:g.85270374T>A	ENSP00000266682:p.Ser257Cys					SLC6A15_ENST00000552192.1_Missense_Mutation_p.S150C|SLC6A15_ENST00000551388.1_5'UTR	p.S257C	NM_182767.5	NP_877499.1	Q9H2J7	S6A15_HUMAN			6	1310	-			257					A8K592|B7Z2P7|E7ESJ5|Q9H9F5	Missense_Mutation	SNP	ENST00000266682.5	37	c.769A>T	CCDS9026.1	.	.	.	.	.	.	.	.	.	.	T	17.62	3.435748	0.62955	.	.	ENSG00000072041	ENST00000266682;ENST00000552192	T;T	0.76448	-1.02;-1.02	5.84	5.84	0.93424	.	0.000000	0.85682	D	0.000000	D	0.88522	0.6459	M	0.80616	2.505	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	D	0.89972	0.4094	10	0.87932	D	0	.	16.2045	0.82114	0.0:0.0:0.0:1.0	.	257	Q9H2J7	S6A15_HUMAN	C	257;150	ENSP00000266682:S257C;ENSP00000450145:S150C	ENSP00000266682:S257C	S	-	1	0	SLC6A15	83794505	1.000000	0.71417	1.000000	0.80357	0.206000	0.24218	7.698000	0.84413	2.234000	0.73211	0.459000	0.35465	AGT		0.303	SLC6A15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405678.1	NM_018057, NM_182767		5	141	0	0	0	0.000602214	0	5	141					A	85270374	T	A	85270374	3	1	73	1	0	0	0	0	1	0	0	0	14678	1522	53	5	1451	5	SLC6A15	12	85270374	Missense_Mutation	SNP	T	TCGA-EJ-5527-01A-01D-1576-08	21294131	85270374	48581521	43	3818											
UBC	7316	broad.mit.edu	37	chr12	125397269	125397269	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	catcttccagctgttttccgGcaaagatcaacctctgctgg	8	12	8	13	1	3	1	1	0	2	1	5	1	5	1	3	2	3	4	3	2	2	3			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr12:125397269G>A	ENST00000536769.1	-	1	2625	c.1049C>T	c.(1048-1050)gCc>gTc	p.A350V	UBC_ENST00000538617.1_Intron|MIR5188_ENST00000583467.1_RNA|UBC_ENST00000546120.1_Missense_Mutation_p.A274V|UBC_ENST00000536661.1_5'Flank|UBC_ENST00000339647.5_Missense_Mutation_p.A350V			P0CG48	UBC_HUMAN	ubiquitin C	350	Ubiquitin-like 5. {ECO:0000255|PROSITE- ProRule:PRU00214}.				activation of MAPK activity (GO:0000187)|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|carbohydrate metabolic process (GO:0005975)|cellular response to hypoxia (GO:0071456)|cytokine-mediated signaling pathway (GO:0019221)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|endosomal transport (GO:0016197)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|intracellular transport of virus (GO:0075733)|ion transmembrane transport (GO:0034220)|JNK cascade (GO:0007254)|membrane organization (GO:0061024)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of type I interferon production (GO:0032480)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of apoptotic process (GO:0043065)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of type I interferon production (GO:0032479)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|stress-activated MAPK cascade (GO:0051403)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|transmembrane transport (GO:0055085)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral protein processing (GO:0019082)|virion assembly (GO:0019068)	cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|protease binding (GO:0002020)			breast(3)|endometrium(4)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308)		CTGTTTTCCGGCAAAGATCAA	0.522																																						ENST00000536769.1																			0				breast(3)|endometrium(4)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(1048-1050)gCc>gTc		ubiquitin C							191	172	179					12																	125397269		2203	4300	6503	SO:0001583	missense	7316				activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|viral reproduction	cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane	protein binding	g.chr12:125397269G>A		CCDS9260.1	12q24.3	2008-09-08			ENSG00000150991	ENSG00000150991			12468	protein-coding gene	gene with protein product	"polyubiquitin-C"	191340				1315303, 11872750	Standard	NM_021009		Approved		uc001ugs.4	P0CG48		ENST00000536769.1:c.1049C>T	12.37:g.125397269G>A	ENSP00000441543:p.Ala350Val					UBC_ENST00000339647.5_Missense_Mutation_p.A350V|UBC_ENST00000538617.1_Intron|UBC_ENST00000546120.1_Missense_Mutation_p.A274V	p.A350V			P0CG48	UBC_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308)	1	2625	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		350			Ubiquitin-like 5.		P02248|P02249|P02250|P62988|Q29120|Q6LBL4|Q6LDU5|Q8WYN8|Q91887|Q91888|Q9BWD6|Q9BX98|Q9UEF2|Q9UEG1|Q9UEK8|Q9UPK7	Missense_Mutation	SNP	ENST00000536769.1	37	c.1049C>T	CCDS9260.1	.	.	.	.	.	.	.	.	.	.	G	17.55	3.416852	0.62511	.	.	ENSG00000150991	ENST00000536769;ENST00000535460;ENST00000541046;ENST00000339647;ENST00000546120	T;T;T	0.74842	-0.88;-0.88;-0.88	3.17	3.17	0.36434	Ubiquitin supergroup (1);Ubiquitin conserved site (1);Ubiquitin (2);	0.343088	0.19197	N	0.120281	T	0.82226	0.4991	M	0.74546	2.27	0.80722	D	1	P;P;P	0.46621	0.881;0.668;0.715	P;P;B	0.57244	0.816;0.63;0.365	D	0.84144	0.0419	10	0.72032	D	0.01	.	11.8774	0.52554	0.0:0.0:1.0:0.0	.	439;350;350	Q66K58;F5H7K6;P0CG48	.;.;UBC_HUMAN	V	350;350;274;350;274	ENSP00000441543:A350V;ENSP00000344818:A350V;ENSP00000438394:A274V	ENSP00000344818:A350V	A	-	2	0	UBC	123963222	1.000000	0.71417	0.999000	0.59377	0.980000	0.70556	7.436000	0.80404	1.615000	0.50252	0.556000	0.70494	GCC		0.522	UBC-007	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400177.1	NM_021009		7	475	0	0	0	0.00198382	0	7	475					A	125397269	G	A	125397269	3	1	73	1	0	0	0	0	1	0	0	0	16839	1203	42	3	1012	3	UBC	12	125397269	Missense_Mutation	SNP	G	TCGA-EJ-5527-01A-01D-1576-08	40126895	125397269	8454626	44	3819											
MIPEP	4285	broad.mit.edu	37	chr13	24455845	24455845	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gaacagcacatacttctctaCcatggtgccaatacttctac	12	11	5	13	0	2	0	0	0	2	0	3	1	2	0	2	1	7	1	2	1	6	6			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr13:24455845C>A	ENST00000382172.3	-	3	543	c.445G>T	c.(445-447)Gta>Tta	p.V149L	MIPEP_ENST00000469167.1_5'UTR	NM_005932.3	NP_005923	Q99797	MIPEP_HUMAN	mitochondrial intermediate peptidase	149					protein processing involved in protein targeting to mitochondrion (GO:0006627)	mitochondrion (GO:0005739)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)	p.V149L(1)		breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|liver(1)|lung(12)|prostate(2)|skin(1)	27		all_cancers(29;1.83e-22)|all_epithelial(30;8.75e-19)|all_lung(29;9.17e-18)|Lung SC(185;0.0225)|Breast(139;0.14)		all cancers(112;0.00389)|Epithelial(112;0.0266)|OV - Ovarian serous cystadenocarcinoma(117;0.0717)|Lung(94;0.207)|GBM - Glioblastoma multiforme(144;0.232)		TACTTCTCTACCATGGTGCCA	0.502																																						ENST00000382172.3																			1	Substitution - Missense(1)	p.V149L(1)	prostate(1)	breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|liver(1)|lung(12)|prostate(2)|skin(1)	27						c.(445-447)Gta>Tta		mitochondrial intermediate peptidase							100	69	79					13																	24455845		2203	4300	6503	SO:0001583	missense	4285				protein processing involved in protein targeting to mitochondrion|proteolysis	mitochondrial matrix	metal ion binding|metalloendopeptidase activity	g.chr13:24455845C>A		CCDS9303.1	13q12	2011-01-17			ENSG00000027001	ENSG00000027001	3.4.24.59		7104	protein-coding gene	gene with protein product		602241				9073519	Standard	NM_005932		Approved	MIP	uc001uox.4	Q99797	OTTHUMG00000016573	ENST00000382172.3:c.445G>T	13.37:g.24455845C>A	ENSP00000371607:p.Val149Leu					MIPEP_ENST00000469167.1_5'UTR	p.V149L	NM_005932.3	NP_005923.2	Q99797	MIPEP_HUMAN		all cancers(112;0.00389)|Epithelial(112;0.0266)|OV - Ovarian serous cystadenocarcinoma(117;0.0717)|Lung(94;0.207)|GBM - Glioblastoma multiforme(144;0.232)	3	543	-		all_cancers(29;1.83e-22)|all_epithelial(30;8.75e-19)|all_lung(29;9.17e-18)|Lung SC(185;0.0225)|Breast(139;0.14)	149					Q5JV15|Q5T9Q9|Q96G65	Missense_Mutation	SNP	ENST00000382172.3	37	c.445G>T	CCDS9303.1	.	.	.	.	.	.	.	.	.	.	C	19.43	3.826066	0.71143	.	.	ENSG00000027001	ENST00000382172	T	0.53857	0.6	4.66	4.66	0.58398	Neurolysin/Thimet oligopeptidase, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.72463	0.3463	M	0.75085	2.285	0.80722	D	1	D	0.67145	0.996	D	0.74674	0.984	T	0.75728	-0.3216	10	0.54805	T	0.06	.	17.9087	0.88927	0.0:1.0:0.0:0.0	.	149	Q99797	MIPEP_HUMAN	L	149	ENSP00000371607:V149L	ENSP00000371607:V149L	V	-	1	0	MIPEP	23353845	1.000000	0.71417	0.994000	0.49952	0.275000	0.26752	7.377000	0.79668	2.299000	0.77371	0.655000	0.94253	GTA		0.502	MIPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044169.1			11	115	1	0	0.000978159	0.000978159	0.00267707	11	115					A	24455845	C	A	24455845	3	1	73	1	0	0	0	0	1	0	0	0	9592	507	18	5	1764	5	MIPEP	13	24455845	Missense_Mutation	SNP	C	TCGA-EJ-5527-01A-01D-1576-08		24455845	90714033	45	3820											
SPG20	23111	broad.mit.edu	37	chr13	36886567	36886567	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tccatgcttcttgacatgtgGagctagttcttttccaacgc	7	15	8	11	1	2	1	0	1	2	0	4	2	4	2	2	1	3	3	2	1	2	6			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr13:36886567G>A	ENST00000451493.1	-	7	1748	c.1531C>T	c.(1531-1533)Cca>Tca	p.P511S	SPG20_ENST00000438666.2_Missense_Mutation_p.P511S|SPG20_ENST00000494062.2_Missense_Mutation_p.P511S|SPG20_ENST00000355182.4_Missense_Mutation_p.P511S	NM_001142295.1	NP_001135767.1	Q8N0X7	SPG20_HUMAN	spastic paraplegia 20 (Troyer syndrome)	511					abscission (GO:0009838)|adipose tissue development (GO:0060612)|cell death (GO:0008219)|cell division (GO:0051301)|lipid particle organization (GO:0034389)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of collateral sprouting in absence of injury (GO:0048698)|neuromuscular process (GO:0050905)|regulation of mitochondrial membrane potential (GO:0051881)	cytoplasm (GO:0005737)|lipid particle (GO:0005811)|midbody (GO:0030496)|mitochondrial outer membrane (GO:0005741)|plasma membrane (GO:0005886)|synapse (GO:0045202)	ubiquitin protein ligase binding (GO:0031625)	p.P511S(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	27		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;2.42e-08)|Epithelial(112;1.58e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00128)|BRCA - Breast invasive adenocarcinoma(63;0.0125)|GBM - Glioblastoma multiforme(144;0.026)		TTGACATGTGGAGCTAGTTCT	0.368																																						ENST00000451493.1																			1	Substitution - Missense(1)	p.P511S(1)	prostate(1)	breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	27						c.(1531-1533)Cca>Tca		spastic paraplegia 20 (Troyer syndrome)							139	136	137					13																	36886567		2203	4300	6503	SO:0001583	missense	23111				cell death	cytoplasm	ubiquitin protein ligase binding	g.chr13:36886567G>A	AB011182	CCDS9356.1	13q13.1	2008-07-04	2007-04-23		ENSG00000133104	ENSG00000133104			18514	protein-coding gene	gene with protein product	"spartin"	607111				6022528, 12134148	Standard	NM_001142294		Approved	KIAA0610, TAHCCP1	uc001uvm.3	Q8N0X7	OTTHUMG00000016730	ENST00000451493.1:c.1531C>T	13.37:g.36886567G>A	ENSP00000414147:p.Pro511Ser					SPG20_ENST00000438666.2_Missense_Mutation_p.P511S|SPG20_ENST00000494062.2_Missense_Mutation_p.P511S|SPG20_ENST00000355182.4_Missense_Mutation_p.P511S	p.P511S	NM_001142295.1	NP_001135767.1	Q8N0X7	SPG20_HUMAN	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;2.42e-08)|Epithelial(112;1.58e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00128)|BRCA - Breast invasive adenocarcinoma(63;0.0125)|GBM - Glioblastoma multiforme(144;0.026)	7	1748	-		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	511					O60349|Q86Y67|Q9H1T2|Q9H1T3	Missense_Mutation	SNP	ENST00000451493.1	37	c.1531C>T	CCDS9356.1	.	.	.	.	.	.	.	.	.	.	G	33	5.207575	0.95033	.	.	ENSG00000133104	ENST00000438666;ENST00000355182;ENST00000451493;ENST00000423217	D;D;D	0.89681	-2.55;-2.55;-2.55	6.16	6.16	0.99307	Senescence/spartin-associated (1);	0.000000	0.85682	D	0.000000	D	0.95020	0.8388	M	0.85542	2.76	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.91908	0.5537	10	0.20046	T	0.44	-20.2932	20.8598	0.99761	0.0:0.0:1.0:0.0	.	511;511	A8K6Q9;Q8N0X7	.;SPG20_HUMAN	S	511	ENSP00000406061:P511S;ENSP00000347314:P511S;ENSP00000414147:P511S	ENSP00000347314:P511S	P	-	1	0	SPG20	35784567	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.987000	0.93497	2.937000	0.99478	0.650000	0.86243	CCA		0.368	SPG20-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044494.2			42	283	0	0	0	0.00195071	0	42	283					A	36886567	G	A	36886567	3	1	73	1	0	0	0	0	1	0	0	0	15041	1174	41	3	481	3	SPG20	13	36886567	Missense_Mutation	SNP	G	TCGA-EJ-5527-01A-01D-1576-08	12430722	36886567	78283311	46	3821											
PCDH17	27253	broad.mit.edu	37	chr13	58208844	58208844	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tctccatcatcctcctagcgGccatgatcaccatcgccgtc	7	10	6	18	3	3	1	2	1	1	0	8	1	5	1	6	1	1	0	6	1	1	1			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr13:58208844G>A	ENST00000377918.3	+	1	2190	c.2164G>A	c.(2164-2166)Gcc>Acc	p.A722T		NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN	protocadherin 17	722					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		CCTCCTAGCGGCCATGATCAC	0.617																																					Melanoma(72;952 1291 1619 12849 33676)	ENST00000377918.3																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120						c.(2164-2166)Gcc>Acc		protocadherin 17							78	76	77					13																	58208844		2203	4300	6503	SO:0001583	missense	27253				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding	g.chr13:58208844G>A	AF029343	CCDS31986.1	13q21.1	2010-01-26			ENSG00000118946	ENSG00000118946		"Cadherins / Protocadherins : Non-clustered"	14267	protein-coding gene	gene with protein product		611760				10835267	Standard	NM_001040429		Approved	PCDH68, PCH68	uc001vhq.1	O14917	OTTHUMG00000016992	ENST00000377918.3:c.2164G>A	13.37:g.58208844G>A	ENSP00000367151:p.Ala722Thr						p.A722T	NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN		GBM - Glioblastoma multiforme(99;1.06e-05)	1	2190	+		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)	722					A8K1R5|Q5VVW9|Q5VVX0	Missense_Mutation	SNP	ENST00000377918.3	37	c.2164G>A	CCDS31986.1	.	.	.	.	.	.	.	.	.	.	G	12.03	1.816140	0.32145	.	.	ENSG00000118946	ENST00000377918	T	0.53206	0.63	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	T	0.34513	0.0900	N	0.16266	0.395	0.80722	D	1	B;B	0.25904	0.088;0.137	B;B	0.24006	0.05;0.039	T	0.10870	-1.0611	9	.	.	.	.	19.3157	0.94213	0.0:0.0:1.0:0.0	.	722;722	O14917-2;O14917	.;PCD17_HUMAN	T	722	ENSP00000367151:A722T	.	A	+	1	0	PCDH17	57106845	1.000000	0.71417	1.000000	0.80357	1.000000	0.99986	9.869000	0.99810	2.551000	0.86045	0.655000	0.94253	GCC		0.617	PCDH17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045139.1	NM_001040429		4	84	0	0	0	0.00024832	0	4	84					A	58208844	G	A	58208844	3	1	73	1	0	0	0	0	1	0	0	0	11512	1203	42	3	2166	3	PCDH17	13	58208844	Missense_Mutation	SNP	G	TCGA-EJ-5527-01A-01D-1576-08	21322277	58208844	56961034	47	3822											
TRIM9	114088	broad.mit.edu	37	chr14	51446111	51446111	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggcagggtgcttacctgcacGttcctgttcaggctgaccgc	5	10	13	13	2	1	1	1	1	0	0	2	1	2	1	3	3	3	6	3	3	1	3			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr14:51446111G>A	ENST00000298355.3	-	9	3185	c.2064C>T	c.(2062-2064)aaC>aaT	p.N688N	TRIM9_ENST00000338969.5_Silent_p.N769N	NM_015163.5	NP_055978.4	Q9C026	TRIM9_HUMAN	tripartite motif containing 9	688	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of SNARE complex assembly (GO:0035544)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|synaptic vesicle exocytosis (GO:0016079)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dendrite (GO:0030425)|synaptic vesicle (GO:0008021)	ligase activity (GO:0016874)|protein homodimerization activity (GO:0042803)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.N688N(2)|p.N769N(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|liver(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_epithelial(31;0.00418)|Breast(41;0.148)					TTACCTGCACGTTCCTGTTCA	0.512																																						ENST00000298355.3																			3	Substitution - coding silent(3)	p.N688N(2)|p.N769N(1)	prostate(3)	breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|liver(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						c.(2062-2064)aaC>aaT		tripartite motif containing 9							100	99	100					14																	51446111		2203	4300	6503	SO:0001819	synonymous_variant	114088				proteasomal ubiquitin-dependent protein catabolic process	cell junction|cytoskeleton|dendrite|synaptic vesicle	protein homodimerization activity|ubiquitin-protein ligase activity|zinc ion binding	g.chr14:51446111G>A	AF220036	CCDS9703.1, CCDS45105.1	14q21.3	2013-02-11	2011-01-25		ENSG00000100505	ENSG00000100505		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers", "Fibronectin type III domain containing"	16288	protein-coding gene	gene with protein product		606555	"tripartite motif-containing 9"			11331580, 11524423	Standard	NM_015163		Approved	SPRING, RNF91	uc001wyx.4	Q9C026	OTTHUMG00000140291	ENST00000298355.3:c.2064C>T	14.37:g.51446111G>A						TRIM9_ENST00000338969.5_Silent_p.N769N	p.N688N	NM_015163.5	NP_055978.4	Q9C026	TRIM9_HUMAN			9	3185	-	all_epithelial(31;0.00418)|Breast(41;0.148)		688			B30.2/SPRY.		D3DSB7|D3DSB8|Q92557|Q96D24|Q96NI4|Q9C025|Q9C027	Silent	SNP	ENST00000298355.3	37	c.2064C>T	CCDS9703.1																																																																																				0.512	TRIM9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276874.1	NM_015163		65	203	0	0	0	0.00361006	0	65	203					A	51446111	G	A	51446111	2	1	73	1	0	0	0	0	0	0	0	1	16546	1136	40	1		1	TRIM9	14	51446111	Silent	SNP	G	TCGA-EJ-5527-01A-01D-1576-08		51446111	55903429	48	3823											
MAP3K9	4293	broad.mit.edu	37	chr14	71215544	71215544	+	Splice_Site	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttgttttttttgttttgtttAccttttctttggccctgagt	2	26	7	6	0	1	1	0	1	1	0	1	1	1	1	2	1	1	3	2	1	1	12			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr14:71215544A>T	ENST00000554752.2	-	5	1326		c.e5+1		MAP3K9_ENST00000555993.2_Splice_Site|MAP3K9_ENST00000554146.1_Splice_Site|MAP3K9_ENST00000553414.1_Splice_Site|MAP3K9_ENST00000381250.4_Splice_Site	NM_001284230.1	NP_001271159.1	P80192	M3K9_HUMAN	mitogen-activated protein kinase kinase kinase 9						activation of JNKK activity (GO:0007256)|activation of JUN kinase activity (GO:0007257)|apoptotic process (GO:0006915)|positive regulation of apoptotic process (GO:0043065)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)		ATP binding (GO:0005524)|JUN kinase kinase kinase activity (GO:0004706)|MAP kinase kinase activity (GO:0004708)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(1)|skin(3)|stomach(2)	46				all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08)		tgttttgtttaccttttcttt	0.438																																					GBM(114;411 1587 13539 28235 50070)	ENST00000554752.2																			0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(1)|skin(3)|stomach(2)	46						c.e5+1		mitogen-activated protein kinase kinase kinase 9							70	67	68					14																	71215544		2203	4300	6503	SO:0001630	splice_region_variant	4293				activation of JUN kinase activity|protein autophosphorylation		ATP binding|JUN kinase kinase kinase activity|MAP kinase kinase activity|protein homodimerization activity	g.chr14:71215544A>T	AF251442	CCDS32112.1, CCDS61485.1, CCDS61488.1, CCDS73650.1	14q24.2	2012-10-02			ENSG00000006432	ENSG00000006432		"Mitogen-activated protein kinase cascade / Kinase kinase kinases"	6861	protein-coding gene	gene with protein product		600136		MLK1			Standard	NM_001284231		Approved	PRKE1, MEKK9	uc001xml.3	P80192	OTTHUMG00000171249	ENST00000554752.2:c.1326+1T>A	14.37:g.71215544A>T						MAP3K9_ENST00000553414.1_Splice_Site|MAP3K9_ENST00000554146.1_Splice_Site|MAP3K9_ENST00000381250.4_Splice_Site|MAP3K9_ENST00000555993.2_Splice_Site				P80192	M3K9_HUMAN		all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08)	5	1326	-								A3KN85|Q0D2G7|Q6EH31|Q9H2N5	Splice_Site	SNP	ENST00000554752.2	37																																																																																						0.438	MAP3K9-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000412550.2		Intron	5	184	0	0	0	0.000602214	0	5	184					T	71215544	A	T	71215544	5	4	73	1	0	0	0	0	0	0	1	0	9257	405	14	5	2064	5	MAP3K9	14	71215544	Splice_Site	SNP	A	TCGA-EJ-5527-01A-01D-1576-08	19769433	71215544	36133996	49	3824											
CDC42BPB	9578	broad.mit.edu	37	chr14	103442220	103442220	+	Splice_Site	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagccggcgctgccctcacCttgcagcttcctgctcagct	4	9	11	17	2	2	0	2	0	0	0	3	1	3	1	4	2	6	5	4	2	0	2			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr14:103442220C>G	ENST00000361246.2	-	10	1675	c.1387G>C	c.(1387-1389)Gag>Cag	p.E463Q		NM_006035.3	NP_006026.3			CDC42 binding protein kinase beta (DMPK-like)									p.E463Q(2)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(11)|liver(1)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	49		Melanoma(154;0.155)		Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199)		CTGCCCTCACCTTGCAGCTTC	0.662																																						ENST00000361246.2																			2	Substitution - Missense(2)	p.E463Q(2)	prostate(2)	NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(11)|liver(1)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	49						c.e10+1		CDC42 binding protein kinase beta (DMPK-like)							75	79	77					14																	103442220		2203	4300	6503	SO:0001630	splice_region_variant	9578				actin cytoskeleton reorganization|establishment or maintenance of cell polarity|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm|cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chr14:103442220C>G	AF128625	CCDS9978.1	14q32.32	2010-05-12	2001-11-28		ENSG00000198752	ENSG00000198752			1738	protein-coding gene	gene with protein product		614062	"CDC42-binding protein kinase beta (DMPK-like)"			10198171	Standard	NM_006035		Approved	MRCKB, KIAA1124	uc001ymi.1	Q9Y5S2		ENST00000361246.2:c.1387+1G>C	14.37:g.103442220C>G							p.E463_splice	NM_006035.3	NP_006026.3	Q9Y5S2	MRCKB_HUMAN		Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199)	10	1675	-		Melanoma(154;0.155)	463						Splice_Site	SNP	ENST00000361246.2	37	c.1387_splice	CCDS9978.1	.	.	.	.	.	.	.	.	.	.	C	36	5.706568	0.96821	.	.	ENSG00000198752	ENST00000361246	T	0.66815	-0.23	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	T	0.73682	0.3618	M	0.81497	2.545	0.80722	D	1	B	0.32425	0.371	B	0.37387	0.248	T	0.71388	-0.4608	9	.	.	.	.	20.0589	0.97667	0.0:1.0:0.0:0.0	.	463	Q9Y5S2	MRCKB_HUMAN	Q	463	ENSP00000355237:E463Q	.	E	-	1	0	CDC42BPB	102511973	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	6.064000	0.71169	2.732000	0.93576	0.650000	0.86243	GAG		0.662	CDC42BPB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415711.1	NM_006035	Missense_Mutation	13	154	0	0	0	0.00400662	0	13	154					G	103442220	C	G	103442220	5	3	73	1	0	0	0	0	0	0	1	0	3073	695	24	5	3860	5	CDC42BPB	14	103442220	Splice_Site	SNP	C	TCGA-EJ-5527-01A-01D-1576-08	32226676	103442220	3907320	50	3825											
CHP	11261	broad.mit.edu	37	chr15	41523608	41523608	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctcgggcctccacgttactgCgggacgaagagctcgaggag	8	6	15	12	5	0	1	0	0	0	1	3	5	1	3	2	3	3	2	2	3	2	1			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr15:41523608C>T	ENST00000334660.5	+	1	268	c.28C>T	c.(28-30)Cgg>Tgg	p.R10W	EXD1_ENST00000559743.1_5'Flank|EXD1_ENST00000458580.2_5'Flank|EXD1_ENST00000314992.5_5'Flank|CHP1_ENST00000558351.1_Intron|CHP1_ENST00000560397.1_Missense_Mutation_p.R10W	NM_007236.4	NP_009167.1	Q99653	CHP1_HUMAN	calcineurin-like EF-hand protein 1	10					calcium ion-dependent exocytosis (GO:0017156)|cellular response to acidic pH (GO:0071468)|cytoplasmic microtubule organization (GO:0031122)|membrane docking (GO:0022406)|membrane fusion (GO:0061025)|membrane organization (GO:0061024)|microtubule bundle formation (GO:0001578)|negative regulation of calcineurin-NFAT signaling cascade (GO:0070885)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of phosphatase activity (GO:0010923)|negative regulation of protein autophosphorylation (GO:0031953)|negative regulation of protein import into nucleus (GO:0042308)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein ubiquitination (GO:0031397)|positive regulation of protein glycosylation (GO:0060050)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of protein transport (GO:0051222)|positive regulation of sodium:proton antiporter activity (GO:0032417)|potassium ion transport (GO:0006813)|protein export from nucleus (GO:0006611)|protein oligomerization (GO:0051259)|protein stabilization (GO:0050821)|regulation of intracellular pH (GO:0051453)|small GTPase mediated signal transduction (GO:0007264)|transcytosis (GO:0045056)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi membrane (GO:0000139)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|transport vesicle (GO:0030133)	calcium ion binding (GO:0005509)|calcium-dependent protein binding (GO:0048306)|kinase binding (GO:0019900)|microtubule binding (GO:0008017)|potassium channel regulator activity (GO:0015459)|protein kinase inhibitor activity (GO:0004860)|transporter activity (GO:0005215)	p.R10W(1)									CACGTTACTGCGGGACGAAGA	0.677																																						ENST00000334660.5																			1	Substitution - Missense(1)	p.R10W(1)	prostate(1)								c.(28-30)Cgg>Tgg		calcineurin-like EF-hand protein 1							35	24	28					15																	41523608		2198	4300	6498	SO:0001583	missense	11261				potassium ion transport|small GTPase mediated signal transduction		potassium channel regulator activity	g.chr15:41523608C>T		CCDS10073.1	15q13.3	2013-01-11	2013-01-11		ENSG00000187446	ENSG00000187446		"EF-hand domain containing"	17433	protein-coding gene	gene with protein product	"calcineurin homologous protein"	606988				15987692, 20720019	Standard	NM_007236		Approved	Sid470p, CHP, SLC9A1BP, p22, p24	uc001znl.3	Q99653	OTTHUMG00000130233	ENST00000334660.5:c.28C>T	15.37:g.41523608C>T	ENSP00000335632:p.Arg10Trp					CHP1_ENST00000558351.1_Intron|CHP1_ENST00000560397.1_Missense_Mutation_p.R10W	p.R10W	NM_007236.4	NP_009167.1	Q99653	CHP1_HUMAN			1	268	+			10					B2R6H9|Q6FHZ9	Missense_Mutation	SNP	ENST00000334660.5	37	c.28C>T	CCDS10073.1	.	.	.	.	.	.	.	.	.	.	C	26.5	4.745030	0.89663	.	.	ENSG00000187446	ENST00000334660;ENST00000392151	T;T	0.68479	-0.33;-0.33	5.79	1.52	0.23074	.	0.000000	0.85682	D	0.000000	T	0.76219	0.3957	M	0.87758	2.905	0.80722	D	1	D	0.56521	0.976	P	0.50659	0.647	T	0.81673	-0.0826	10	0.72032	D	0.01	-10.8135	14.3342	0.66578	0.6356:0.3644:0.0:0.0	.	10	Q99653	CHP1_HUMAN	W	10	ENSP00000335632:R10W;ENSP00000440490:R10W	ENSP00000335632:R10W	R	+	1	2	AC012652.1	39310900	0.990000	0.36364	1.000000	0.80357	0.993000	0.82548	0.024000	0.13555	0.334000	0.23590	-0.277000	0.10078	CGG		0.677	CHP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252554.2	NM_007236		3	7	0	0	0	0.00024832	0	3	7					T	41523608	C	T	41523608	3	4	73	1	0	0	0	0	1	0	0	0	3366	759	27	1	30	1	CHP	15	41523608	Missense_Mutation	SNP	C	TCGA-EJ-5527-01A-01D-1576-08		41523608	61007784	51	3826											
ZNF778	197320	broad.mit.edu	37	chr16	89294346	89294346	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agggtttatctactgaatgaGcatgtgaaaactcacacaga	15	10	9	7	0	2	4	1	3	1	1	2	4	2	4	0	1	3	2	0	1	5	3			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr16:89294346G>T	ENST00000433976.2	+	6	1898	c.1566G>T	c.(1564-1566)gaG>gaT	p.E522D	RP11-46C24.6_ENST00000563182.1_RNA|ZNF778_ENST00000306502.6_Missense_Mutation_p.E480D	NM_001201407.1|NM_182531.3	NP_001188336.1|NP_872337.2	Q96MU6	ZN778_HUMAN	zinc finger protein 778	522					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.E522D(1)		endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|prostate(2)|skin(2)	24				BRCA - Breast invasive adenocarcinoma(80;0.0269)		TACTGAATGAGCATGTGAAAA	0.458																																						ENST00000433976.2																			1	Substitution - Missense(1)	p.E522D(1)	prostate(1)	endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|prostate(2)|skin(2)	24						c.(1564-1566)gaG>gaT		zinc finger protein 778							73	81	78					16																	89294346		2184	4296	6480	SO:0001583	missense	197320				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:89294346G>T	AK056437	CCDS45550.1, CCDS73928.1	16q24.3	2014-09-17			ENSG00000170100	ENSG00000170100		"Zinc fingers, C2H2-type", "-"	26479	protein-coding gene	gene with protein product							Standard	NM_182531		Approved	FLJ31875	uc021tms.1	Q96MU6		ENST00000433976.2:c.1566G>T	16.37:g.89294346G>T	ENSP00000405289:p.Glu522Asp					ZNF778_ENST00000306502.6_Missense_Mutation_p.E480D|RP11-46C24.6_ENST00000563182.1_RNA	p.E522D	NM_001201407.1|NM_182531.3	NP_001188336.1|NP_872337.2	Q96MU6	ZN778_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0269)	6	1898	+			522					Q08AG0	Missense_Mutation	SNP	ENST00000433976.2	37	c.1566G>T	CCDS45550.1	.	.	.	.	.	.	.	.	.	.	G	1.649	-0.514363	0.04200	.	.	ENSG00000170100	ENST00000433976;ENST00000306502	T;T	0.03635	3.86;3.86	1.11	-0.133	0.13485	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.01835	0.0058	N	0.16016	0.355	0.09310	N	0.999996	P;P	0.36330	0.492;0.548	B;B	0.35039	0.122;0.194	T	0.44772	-0.9306	9	0.13470	T	0.59	.	3.1069	0.06345	0.7146:0.0:0.2854:0.0	.	480;522	Q96MU6-2;Q96MU6	.;ZN778_HUMAN	D	522;480	ENSP00000405289:E522D;ENSP00000305203:E480D	ENSP00000305203:E480D	E	+	3	2	ZNF778	87821847	0.000000	0.05858	0.025000	0.17156	0.232000	0.25224	-3.529000	0.00440	-0.049000	0.13379	-0.377000	0.06932	GAG		0.458	ZNF778-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430383.1	NM_182531		7	108	1	0	0.00198382	0.00198382	0.00529018	7	108					T	89294346	G	T	89294346	3	4	73	1	0	0	0	0	1	0	0	0	18148	962	34	5	1584	5	ZNF778	16	89294346	Missense_Mutation	SNP	G	TCGA-EJ-5527-01A-01D-1576-08		89294346	1060407	52	3827											
ZNF276	92822	broad.mit.edu	37	chr16	89789105	89789105	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcgcctgcttggtgtggcTgtccgccaggaccccacctt	4	9	12	16	2	0	0	0	0	0	0	1	1	1	1	6	3	2	2	6	3	0	2			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr16:89789105T>A	ENST00000443381.2	+	2	469	c.372T>A	c.(370-372)gcT>gcA	p.A124A	ZNF276_ENST00000289816.5_Silent_p.A49A|ZNF276_ENST00000446326.2_5'UTR|VPS9D1_ENST00000389386.3_5'Flank|ZNF276_ENST00000568064.1_Silent_p.A49A	NM_001113525.1	NP_001106997.1	Q8N554	ZN276_HUMAN	zinc finger protein 276	124	ZAD.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)	14		Lung NSC(15;2.19e-05)|all_lung(18;3.07e-05)|all_hematologic(23;0.0256)		BRCA - Breast invasive adenocarcinoma(80;0.0278)		TTGGTGTGGCTGTCCGCCAGG	0.637																																						ENST00000289816.5																			0				cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)	14						c.(145-147)gcT>gcA		zinc finger protein 276							69	66	67					16																	89789105		2198	4300	6498	SO:0001819	synonymous_variant	92822				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:89789105T>A	AK026482	CCDS10986.1, CCDS45554.1	16q24.3	2014-02-17	2006-02-10	2006-02-10	ENSG00000158805	ENSG00000158805		"Zinc fingers, C2H2-type"	23330	protein-coding gene	gene with protein product	"centromere protein Z", "zinc finger, AD-type"	608460	"zinc finger protein 276 homolog (mouse)"	ZFP276		10936049, 20813266	Standard	NM_152287		Approved	MGC45417, ZNF477, CENPZ, CENP-Z, ZADT	uc002fos.4	Q8N554	OTTHUMG00000138050	ENST00000443381.2:c.372T>A	16.37:g.89789105T>A						ZNF276_ENST00000568064.1_Silent_p.A49A|ZNF276_ENST00000443381.2_Silent_p.A124A|ZNF276_ENST00000446326.2_5'UTR	p.A49A	NM_152287.3	NP_689500.2	Q8N554	ZN276_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0278)	2	459	+		Lung NSC(15;2.19e-05)|all_lung(18;3.07e-05)|all_hematologic(23;0.0256)	124					Q0VGA1|Q2TBE8|Q3B7H7	Silent	SNP	ENST00000443381.2	37	c.147T>A	CCDS45554.1																																																																																				0.637	ZNF276-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422517.1	NM_152287		4	106	0	0	0	0.00024832	0	4	106					A	89789105	T	A	89789105	2	1	73	1	0	0	0	0	0	0	0	1	17808	1567	55	5		5	ZNF276	16	89789105	Silent	SNP	T	TCGA-EJ-5527-01A-01D-1576-08	494759	89789105	565648	53	3828											
WDR81	124997	broad.mit.edu	37	chr17	1633695	1633695	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tacagcctgcaagatggtccGctggctgtctgccaagctcg	7	9	12	13	2	1	1	0	0	1	1	3	1	2	1	3	2	5	4	3	2	3	1			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr17:1633695G>T	ENST00000409644.1	+	2	3689	c.3689G>T	c.(3688-3690)cGc>cTc	p.R1230L	WDR81_ENST00000545662.1_5'Flank|WDR81_ENST00000446363.1_Intron|WDR81_ENST00000437219.2_Missense_Mutation_p.R27L|WDR81_ENST00000309182.5_Missense_Mutation_p.R179L|WDR81_ENST00000419248.1_Missense_Mutation_p.R3L|RP11-961A15.1_ENST00000576540.1_RNA	NM_001163809.1	NP_001157281.1	Q562E7	WDR81_HUMAN	WD repeat domain 81	1230					negative regulation of phosphatase activity (GO:0010923)		transferase activity, transferring phosphorus-containing groups (GO:0016772)	p.R179L(2)|p.R27L(2)|p.R1230L(1)		cervix(1)|endometrium(1)|kidney(3)|lung(6)|ovary(2)|prostate(2)|skin(1)	16				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		AAGATGGTCCGCTGGCTGTCT	0.657																																						ENST00000409644.1																			5	Substitution - Missense(5)	p.R179L(2)|p.R27L(2)|p.R1230L(1)	kidney(3)|prostate(2)	cervix(1)|endometrium(1)|kidney(3)|lung(6)|ovary(2)|prostate(2)|skin(1)	16						c.(3688-3690)cGc>cTc		WD repeat domain 81							31	30	30					17																	1633695		2203	4300	6503	SO:0001583	missense	124997							g.chr17:1633695G>T	AK074111	CCDS54061.1, CCDS54062.1, CCDS54063.1	17p13.3	2014-06-13			ENSG00000167716	ENSG00000167716		"WD repeat domain containing"	26600	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 166"	614218					Standard	NM_001163673		Approved	FLJ33817, PPP1R166	uc002ftj.2	Q562E7	OTTHUMG00000153941	ENST00000409644.1:c.3689G>T	17.37:g.1633695G>T	ENSP00000386609:p.Arg1230Leu					WDR81_ENST00000437219.2_Missense_Mutation_p.R27L|WDR81_ENST00000309182.5_Missense_Mutation_p.R179L|WDR81_ENST00000446363.1_Intron|WDR81_ENST00000419248.1_Missense_Mutation_p.R3L|RP11-961A15.1_ENST00000576540.1_RNA	p.R1230L	NM_001163809.1	NP_001157281.1	B3KXU1	B3KXU1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)	2	3689	+			3					B3KW16|B3KXU1|B7Z579|E9PHG7|Q24JP6|Q8N277|Q8N3F3|Q8TEL1	Missense_Mutation	SNP	ENST00000409644.1	37	c.3689G>T	CCDS54062.1	.	.	.	.	.	.	.	.	.	.	G	16.10	3.026019	0.54683	.	.	ENSG00000167716	ENST00000455636;ENST00000437219;ENST00000309182;ENST00000419248;ENST00000409644	T;T;T;T;T	0.19806	2.12;2.12;2.12;2.49;2.12	5.49	5.49	0.81192	.	0.000000	0.85682	D	0.000000	T	0.42607	0.1210	L	0.53249	1.67	0.80722	D	1	D;D;D	0.89917	0.967;1.0;0.983	B;D;P	0.81914	0.435;0.995;0.533	T	0.04360	-1.0957	10	0.23302	T	0.38	.	19.3746	0.94503	0.0:0.0:1.0:0.0	.	27;357;179	B7Z579;Q8TEL1;Q562E7	.;.;WDR81_HUMAN	L	27;27;179;3;1230	ENSP00000395226:R27L;ENSP00000391074:R27L;ENSP00000312074:R179L;ENSP00000407845:R3L;ENSP00000386609:R1230L	ENSP00000312074:R179L	R	+	2	0	WDR81	1580445	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.394000	0.97261	2.584000	0.87258	0.563000	0.77884	CGC		0.657	WDR81-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333118.2	NM_152348		3	39	1	0	6.4e-05	6.4e-05	0.000177493	3	39					T	1633695	G	T	1633695	3	4	73	1	0	0	0	0	1	0	0	0	17327	1087	38	5	3757	5	WDR81	17	1633695	Missense_Mutation	SNP	G	TCGA-EJ-5527-01A-01D-1576-08		1633695	79561515	54	3829											
ALDH3A2	224	broad.mit.edu	37	chr17	19559759	19559759	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tttgaccacattttctatacGggaaacactgcggttggcaa	11	12	9	9	2	1	1	0	1	1	0	1	2	1	2	1	3	3	2	1	3	4	6			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr17:19559759G>A	ENST00000176643.6	+	4	998	c.552G>A	c.(550-552)acG>acA	p.T184T	ALDH3A2_ENST00000339618.4_Silent_p.T184T|ALDH3A2_ENST00000581518.1_Silent_p.T184T|ALDH3A2_ENST00000395575.2_Silent_p.T184T|ALDH3A2_ENST00000579855.1_Silent_p.T184T			P51648	AL3A2_HUMAN	aldehyde dehydrogenase 3 family, member A2	184			T -> M (in SLS; severe loss of activity). {ECO:0000269|PubMed:10577908}.|T -> R (in SLS; severe loss of activity). {ECO:0000269|PubMed:10577908}.		cellular aldehyde metabolic process (GO:0006081)|central nervous system development (GO:0007417)|epidermis development (GO:0008544)|oxidation-reduction process (GO:0055114)|peripheral nervous system development (GO:0007422)|phytol metabolic process (GO:0033306)|sesquiterpenoid metabolic process (GO:0006714)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrial inner membrane (GO:0005743)|peroxisome (GO:0005777)	aldehyde dehydrogenase (NAD) activity (GO:0004029)|aldehyde dehydrogenase [NAD(P)+] activity (GO:0004030)|long-chain-alcohol oxidase activity (GO:0046577)|long-chain-aldehyde dehydrogenase activity (GO:0050061)|medium-chain-aldehyde dehydrogenase activity (GO:0052814)	p.T184T(1)		endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(2)|ovary(2)|prostate(1)	13	all_cancers(12;1.39e-05)|all_epithelial(12;0.00158)|Breast(13;0.245)					TTTTCTATACGGGAAACACTG	0.438																																						ENST00000176643.6																			1	Substitution - coding silent(1)	p.T184T(1)	prostate(1)	endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(2)|ovary(2)|prostate(1)	13						c.(550-552)acG>acA		aldehyde dehydrogenase 3 family, member A2	NADH(DB00157)						116	110	112					17																	19559759		2203	4300	6503	SO:0001819	synonymous_variant	224				cellular aldehyde metabolic process|central nervous system development|epidermis development|lipid metabolic process|peripheral nervous system development	endoplasmic reticulum membrane|integral to membrane	3-chloroallyl aldehyde dehydrogenase activity|aldehyde dehydrogenase|aldehyde dehydrogenase (NAD) activity	g.chr17:19559759G>A	L47162	CCDS11210.1, CCDS32589.1	17p11.2	2010-05-07			ENSG00000072210	ENSG00000072210	1.2.1.3	"Aldehyde dehydrogenases"	403	protein-coding gene	gene with protein product	"fatty aldehyde dehydrogenase"	609523		SLS, ALDH10		7894487	Standard	NM_000382		Approved	FALDH	uc002gwa.1	P51648	OTTHUMG00000059471	ENST00000176643.6:c.552G>A	17.37:g.19559759G>A						ALDH3A2_ENST00000581518.1_Silent_p.T184T|ALDH3A2_ENST00000579855.1_Silent_p.T184T|ALDH3A2_ENST00000339618.4_Silent_p.T184T|ALDH3A2_ENST00000395575.2_Silent_p.T184T	p.T184T			P51648	AL3A2_HUMAN			4	998	+	all_cancers(12;1.39e-05)|all_epithelial(12;0.00158)|Breast(13;0.245)		184		T -> M (in SLS; severe loss of activity).|T -> R (in SLS; severe loss of activity).			Q6I9T3|Q93011|Q96J37	Silent	SNP	ENST00000176643.6	37	c.552G>A	CCDS11210.1																																																																																				0.438	ALDH3A2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000132268.1			32	167	0	0	0	0.0024448	0	32	167					A	19559759	G	A	19559759	2	1	73	1	0	0	0	0	0	0	0	1	498	1103	39	2		2	ALDH3A2	17	19559759	Silent	SNP	G	TCGA-EJ-5527-01A-01D-1576-08	17926064	19559759	61635451	55	3830											
KRT14	3861	broad.mit.edu	37	chr17	39741238	39741238	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caaactcacttggtgcggaaGtcatccgcggccagacgggc	9	6	13	13	4	2	1	2	0	0	1	3	2	3	2	2	4	2	0	2	4	2	1			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr17:39741238G>C	ENST00000167586.6	-	2	683	c.597C>G	c.(595-597)gaC>gaG	p.D199E		NM_000526.4	NP_000517	P02533	K1C14_HUMAN	keratin 14	199	Coil 1B.|Rod.				aging (GO:0007568)|cell junction assembly (GO:0034329)|epidermis development (GO:0008544)|epithelial cell differentiation (GO:0030855)|hair cycle (GO:0042633)|hemidesmosome assembly (GO:0031581)|intermediate filament bundle assembly (GO:0045110)|response to ionizing radiation (GO:0010212)|response to zinc ion (GO:0010043)	cell periphery (GO:0071944)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)|nucleus (GO:0005634)	keratin filament binding (GO:1990254)|structural constituent of cytoskeleton (GO:0005200)	p.D199E(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(3)|lung(7)|ovary(1)|prostate(5)|skin(1)|stomach(1)	25		Breast(137;0.000307)				TGGTGCGGAAGTCATCCGCGG	0.502																																						ENST00000167586.6																			1	Substitution - Missense(1)	p.D199E(1)	prostate(1)	central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(3)|lung(7)|ovary(1)|prostate(5)|skin(1)|stomach(1)	25						c.(595-597)gaC>gaG		keratin 14							94	73	80					17																	39741238		2203	4300	6503	SO:0001583	missense	3861				epidermis development|hemidesmosome assembly|intermediate filament bundle assembly	cytosol|keratin filament|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton	g.chr17:39741238G>C	BC002690	CCDS11400.1	17q21.2	2013-06-20	2008-09-19		ENSG00000186847	ENSG00000186847		"-", "Intermediate filaments type I, keratins (acidic)"	6416	protein-coding gene	gene with protein product	"epidermolysis bullosa simplex, Dowling-Meara, Koebner"	148066	"keratin 14 (epidermolysis bullosa simplex, Dowling-Meara, Koebner)"	EBS3, EBS4		1717157, 16831889	Standard	NM_000526		Approved		uc002hxf.2	P02533	OTTHUMG00000133426	ENST00000167586.6:c.597C>G	17.37:g.39741238G>C	ENSP00000167586:p.Asp199Glu						p.D199E	NM_000526.4	NP_000517.2	P02533	K1C14_HUMAN			2	683	-		Breast(137;0.000307)	199			Coil 1B.|Rod.		Q14715|Q53XY3|Q9BUE3|Q9UBN2|Q9UBN3|Q9UCY4	Missense_Mutation	SNP	ENST00000167586.6	37	c.597C>G	CCDS11400.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.369649	0.82573	.	.	ENSG00000186847	ENST00000167586	D	0.89123	-2.47	5.44	4.47	0.54385	Filament (1);	0.000000	0.51477	D	0.000098	D	0.94542	0.8242	M	0.87758	2.905	0.47123	D	0.999321	D	0.59357	0.985	D	0.67382	0.951	D	0.95322	0.8421	10	0.87932	D	0	.	14.2756	0.66177	0.0718:0.0:0.9282:0.0	.	199	P02533	K1C14_HUMAN	E	199	ENSP00000167586:D199E	ENSP00000167586:D199E	D	-	3	2	KRT14	36994764	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.274000	0.51631	1.433000	0.47394	0.643000	0.83706	GAC		0.502	KRT14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257289.1	NM_000526		4	96	0	0	0	0.000602214	0	4	96					C	39741238	G	C	39741238	3	2	73	1	0	0	0	0	1	0	0	0	8451	1020	36	5	849	5	KRT14	17	39741238	Missense_Mutation	SNP	G	TCGA-EJ-5527-01A-01D-1576-08	20181479	39741238	41453972	56	3831											
ROCK1	6093	broad.mit.edu	37	chr18	18586746	18586746	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttccaactgatcctttaatgTagaaactagaaaatgaaaga	18	11	6	6	0	0	5	0	2	0	3	2	5	2	5	2	0	2	1	2	0	8	5			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr18:18586746T>A	ENST00000399799.2	-	15	2492	c.1552A>T	c.(1552-1554)Aca>Tca	p.T518S		NM_005406.2	NP_005397.1	Q13464	ROCK1_HUMAN	Rho-associated, coiled-coil containing protein kinase 1	518	Interaction with FHOD1.				actin cytoskeleton organization (GO:0030036)|apical constriction (GO:0003383)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|bleb assembly (GO:0032060)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte tethering or rolling (GO:0050901)|membrane to membrane docking (GO:0022614)|myoblast migration (GO:0051451)|negative regulation of angiogenesis (GO:0016525)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of focal adhesion assembly (GO:0051894)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell adhesion (GO:0030155)|regulation of cell motility (GO:2000145)|regulation of establishment of cell polarity (GO:2000114)|regulation of focal adhesion assembly (GO:0051893)|regulation of keratinocyte differentiation (GO:0045616)|regulation of stress fiber assembly (GO:0051492)|Rho protein signal transduction (GO:0007266)|signal transduction (GO:0007165)|smooth muscle contraction (GO:0006939)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.T518S(1)		NS(1)|breast(4)|central_nervous_system(1)|large_intestine(8)|lung(2)	16	Melanoma(1;0.165)					TCCTTTAATGTAGAAACTAGA	0.308																																						ENST00000399799.1																			1	Substitution - Missense(1)	p.T518S(1)	prostate(1)	NS(1)|breast(4)|central_nervous_system(1)|large_intestine(8)|lung(2)	16						c.(1552-1554)Aca>Tca		Rho-associated, coiled-coil containing protein kinase 1							57	61	60					18																	18586746		2201	4297	6498	SO:0001583	missense	6093				actin cytoskeleton organization|axon guidance|cellular component disassembly involved in apoptosis|cytokinesis|leukocyte tethering or rolling|membrane to membrane docking|Rho protein signal transduction	centriole|cytosol|Golgi membrane	ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity	g.chr18:18586746T>A		CCDS11870.2	18q11.2	2013-01-10			ENSG00000067900	ENSG00000067900	2.7.11.1	"Pleckstrin homology (PH) domain containing"	10251	protein-coding gene	gene with protein product		601702				8617235	Standard	NM_005406		Approved	p160ROCK	uc002kte.3	Q13464	OTTHUMG00000131723	ENST00000399799.2:c.1552A>T	18.37:g.18586746T>A	ENSP00000382697:p.Thr518Ser						p.T518S	NM_005406.2	NP_005397.1	Q13464	ROCK1_HUMAN			15	2492	-	Melanoma(1;0.165)		518			Interaction with FHOD1.		B0YJ91|Q2KHM4|Q59GZ4	Missense_Mutation	SNP	ENST00000399799.2	37	c.1552A>T	CCDS11870.2	.	.	.	.	.	.	.	.	.	.	T	9.907	1.208593	0.22205	.	.	ENSG00000067900	ENST00000399799	D	0.81996	-1.56	5.44	5.44	0.79542	.	0.049365	0.85682	D	0.000000	T	0.71634	0.3363	N	0.25144	0.715	0.54753	D	0.999988	B	0.10296	0.003	B	0.09377	0.004	T	0.66448	-0.5921	10	0.10377	T	0.69	.	15.6661	0.77230	0.0:0.0:0.0:1.0	.	518	Q13464	ROCK1_HUMAN	S	518	ENSP00000382697:T518S	ENSP00000382697:T518S	T	-	1	0	ROCK1	16840744	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.391000	0.59652	2.285000	0.76669	0.533000	0.62120	ACA		0.308	ROCK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254641.2	NM_005406		6	280	0	0	0	0.00116845	0	6	280					A	18586746	T	A	18586746	3	1	73	1	0	0	0	0	1	0	0	0	13517	1638	57	5	2588	5	ROCK1	18	18586746	Missense_Mutation	SNP	T	TCGA-EJ-5527-01A-01D-1576-08		18586746	59490502	57	3832											
ZNF516	9658	broad.mit.edu	37	chr18	74091047	74091047	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggccagagtcctcagctccTgggctgccttcgaggggggc	4	8	16	13	1	1	1	1	0	0	1	4	2	3	1	4	5	2	2	4	5	0	1			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr18:74091047T>A	ENST00000443185.2	-	4	3340	c.3023A>T	c.(3022-3024)cAg>cTg	p.Q1008L	RP11-504I13.3_ENST00000583287.1_RNA|ZNF516_ENST00000524431.2_5'UTR	NM_014643.3	NP_055458.1	Q92618	ZN516_HUMAN	zinc finger protein 516	1008					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.Q1008L(1)		central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Prostate(75;0.0869)|Esophageal squamous(42;0.129)		OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238)		CCTCAGCTCCTGGGCTGCCTT	0.706																																						ENST00000443185.2																			1	Substitution - Missense(1)	p.Q1008L(1)	prostate(1)	central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32						c.(3022-3024)cAg>cTg		zinc finger protein 516							15	18	17					18																	74091047		1906	4065	5971	SO:0001583	missense	9658				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr18:74091047T>A	D86975	CCDS74234.1	18q23	2013-01-08				ENSG00000101493		"Zinc fingers, C2H2-type"	28990	protein-coding gene	gene with protein product		615114				9039502	Standard	NM_014643		Approved	HsT287, KIAA0222	uc021ulp.1	Q92618		ENST00000443185.2:c.3023A>T	18.37:g.74091047T>A	ENSP00000394757:p.Gln1008Leu					ZNF516_ENST00000524431.2_5'UTR	p.Q1008L	NM_014643.3	NP_055458.1	Q92618	ZN516_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238)	4	3340	-		Prostate(75;0.0869)|Esophageal squamous(42;0.129)	1008						Missense_Mutation	SNP	ENST00000443185.2	37	c.3023A>T		.	.	.	.	.	.	.	.	.	.	t	12.54	1.968598	0.34754	.	.	ENSG00000101493	ENST00000443185	T	0.10099	2.91	3.28	0.737	0.18314	.	1.399420	0.04395	N	0.363196	T	0.09069	0.0224	.	.	.	0.09310	N	1	B	0.26318	0.146	B	0.24974	0.057	T	0.37776	-0.9691	9	0.72032	D	0.01	-12.8712	4.0051	0.09597	0.1816:0.1028:0.0:0.7156	.	1008	Q92618	ZN516_HUMAN	L	1008	ENSP00000394757:Q1008L	ENSP00000394757:Q1008L	Q	-	2	0	ZNF516	72220035	0.042000	0.20092	0.718000	0.30602	0.869000	0.49853	0.184000	0.16939	0.038000	0.15604	0.398000	0.26397	CAG		0.706	ZNF516-201	KNOWN	basic|appris_principal|exp_conf	protein_coding	protein_coding		NM_014643		25	29	0	0	0	0.00465635	0	25	29					A	74091047	T	A	74091047	3	1	73	1	0	0	0	0	1	0	0	0	17957	1580	55	5	485	5	ZNF516	18	74091047	Missense_Mutation	SNP	T	TCGA-EJ-5527-01A-01D-1576-08	55504301	74091047	3986201	58	3833											
LRFN3	79414	broad.mit.edu	37	chr19	36431059	36431059	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cccgcctctgccctggtgctGgcctttggcgggaaccccct	2	9	12	18	2	1	0	0	0	1	0	1	1	1	1	6	4	3	1	6	4	1	1			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr19:36431059G>A	ENST00000588831.1	+	3	1786	c.732G>A	c.(730-732)ctG>ctA	p.L244L	LRFN3_ENST00000246529.3_Silent_p.L244L			Q9BTN0	LRFN3_HUMAN	leucine rich repeat and fibronectin type III domain containing 3	244					cell adhesion (GO:0007155)	cell junction (GO:0030054)|cell projection (GO:0042995)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)				cervix(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)	12	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			CCCTGGTGCTGGCCTTTGGCG	0.721																																						ENST00000588831.1																			0				cervix(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)	12						c.(730-732)ctG>ctA		leucine rich repeat and fibronectin type III domain containing 3							26	32	30					19																	36431059		2114	4147	6261	SO:0001819	synonymous_variant	79414				cell adhesion	axon|cell junction|dendrite|integral to membrane|postsynaptic membrane|presynaptic membrane		g.chr19:36431059G>A	BC003578	CCDS12483.1	19q13.13	2013-02-11				ENSG00000126243		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	28370	protein-coding gene	gene with protein product	"fibronectin type III, immunoglobulin and leucine rich repeat domains 1"	612809				12975309, 16495444, 16828986	Standard	NM_024509		Approved	MGC2656, SALM4, FIGLER1	uc002oco.3	Q9BTN0		ENST00000588831.1:c.732G>A	19.37:g.36431059G>A						LRFN3_ENST00000246529.3_Silent_p.L244L	p.L244L			Q9BTN0	LRFN3_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.06)		3	1786	+	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		244					Q6UY10	Silent	SNP	ENST00000588831.1	37	c.732G>A	CCDS12483.1																																																																																				0.721	LRFN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457403.2	NM_024509		3	42	0	0	0	0.000602214	0	3	42					A	36431059	G	A	36431059	2	1	73	1	0	0	0	0	0	0	0	1	8939	1335	47	3		3	LRFN3	19	36431059	Silent	SNP	G	TCGA-EJ-5527-01A-01D-1576-08		36431059	22697924	59	3834											
TP53TG5	27296	broad.mit.edu	37	chr20	44004137	44004137	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gagttccttctcggagcaccCgatctcctggaactcttcat	7	12	8	14	2	4	0	1	0	3	0	7	4	5	2	3	2	2	2	3	2	1	3			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr20:44004137C>T	ENST00000372726.3	-	4	466	c.310G>A	c.(310-312)Ggg>Agg	p.G104R	SYS1-DBNDD2_ENST00000452133.1_Intron|TP53TG5_ENST00000537995.1_Missense_Mutation_p.G88R|SYS1_ENST00000426004.1_3'UTR|SYS1-DBNDD2_ENST00000475242.1_Intron|TP53TG5_ENST00000494455.1_5'UTR	NM_014477.2	NP_055292.1	Q9Y2B4	T53G5_HUMAN	TP53 target 5	104					intracellular signal transduction (GO:0035556)|negative regulation of cell growth (GO:0030308)	cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.G104R(1)		central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(2)|prostate(2)|upper_aerodigestive_tract(1)	12						TCGGAGCACCCGATCTCCTGG	0.502																																						ENST00000372726.3																			1	Substitution - Missense(1)	p.G104R(1)	prostate(1)	central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(2)|prostate(2)|upper_aerodigestive_tract(1)	12						c.(310-312)Ggg>Agg		TP53 target 5							115	125	121					20																	44004137		2203	4300	6503	SO:0001583	missense	27296				intracellular signal transduction|negative regulation of cell growth	cytoplasm|nucleus		g.chr20:44004137C>T	AB017802	CCDS13352.1	20q13.12	2008-09-18	2008-09-18	2008-09-18	ENSG00000124251	ENSG00000124251			15856	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 10"	C20orf10			Standard	NM_014477		Approved	CLG01, dJ453C12.5	uc002xny.3	Q9Y2B4	OTTHUMG00000032582	ENST00000372726.3:c.310G>A	20.37:g.44004137C>T	ENSP00000361811:p.Gly104Arg					SYS1_ENST00000426004.1_3'UTR|TP53TG5_ENST00000537995.1_Missense_Mutation_p.G88R|SYS1-DBNDD2_ENST00000452133.1_Intron|TP53TG5_ENST00000494455.1_5'UTR|SYS1-DBNDD2_ENST00000475242.1_Intron	p.G104R	NM_014477.2	NP_055292.1	Q9Y2B4	T53G5_HUMAN			4	466	-			104						Missense_Mutation	SNP	ENST00000372726.3	37	c.310G>A	CCDS13352.1	.	.	.	.	.	.	.	.	.	.	C	2.806	-0.247964	0.05867	.	.	ENSG00000124251	ENST00000372726;ENST00000537995	T;T	0.13538	2.58;2.58	4.46	-2.33	0.06724	.	1.020300	0.07778	N	0.952945	T	0.08802	0.0218	N	0.19112	0.55	0.09310	N	1	B	0.18166	0.026	B	0.12837	0.008	T	0.41251	-0.9519	10	0.21540	T	0.41	0.0078	11.9292	0.52837	0.0:0.7523:0.0:0.2477	.	104	Q9Y2B4	T53G5_HUMAN	R	104;88	ENSP00000361811:G104R;ENSP00000438374:G88R	ENSP00000361811:G104R	G	-	1	0	TP53TG5	43437551	0.000000	0.05858	0.000000	0.03702	0.031000	0.12232	-2.304000	0.01134	-0.419000	0.07439	-0.345000	0.07892	GGG		0.502	TP53TG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079460.1	NM_014477		43	326	0	0	0	0.00195071	0	43	326					T	44004137	C	T	44004137	3	4	73	1	0	0	0	0	1	0	0	0	16388	652	23	2	570	2	TP53TG5	20	44004137	Missense_Mutation	SNP	C	TCGA-EJ-5527-01A-01D-1576-08		44004137	19021383	60	3835											
MX1	4599	broad.mit.edu	37	chr21	42807818	42807818	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agaaggtgcgcccctgcatcGacctcattgactccctgcgg	7	8	11	15	3	1	2	1	1	0	1	3	3	2	2	4	2	3	1	4	2	1	1	rs368357662		TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr21:42807818G>A	ENST00000398600.2	+	8	1185	c.160G>A	c.(160-162)Gac>Aac	p.D54N	MX1_ENST00000455164.2_Missense_Mutation_p.D54N|MX1_ENST00000288383.6_Missense_Mutation_p.D54N|MX1_ENST00000398598.3_Missense_Mutation_p.D54N	NM_001144925.1	NP_001138397.1	P20591	MX1_HUMAN	MX dynamin-like GTPase 1	54					apoptotic process (GO:0006915)|cytokine-mediated signaling pathway (GO:0019221)|defense response (GO:0006952)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of viral genome replication (GO:0045071)|response to type I interferon (GO:0034340)|response to virus (GO:0009615)|signal transduction (GO:0007165)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)	p.D54N(1)		breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(9)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	27		Prostate(19;3.18e-07)|all_epithelial(19;0.0277)				CCCCTGCATCGACCTCATTGA	0.582																																						ENST00000398600.2																			1	Substitution - Missense(1)	p.D54N(1)	prostate(1)	breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(9)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	27						c.(160-162)Gac>Aac		myxovirus (influenza virus) resistance 1, interferon-inducible protein p78 (mouse)		G	ASN/ASP,ASN/ASP,ASN/ASP	2,4404	4.2+/-10.8	0,2,2201	97	96	96		160,160,160	4.5	1	21		96	0,8600		0,0,4300	no	missense,missense,missense	MX1	NM_001144925.1,NM_001178046.1,NM_002462.3	23,23,23	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	probably-damaging,probably-damaging,probably-damaging	54/663,54/663,54/663	42807818	2,13004	2203	4300	6503	SO:0001583	missense	4599				induction of apoptosis|response to virus|type I interferon-mediated signaling pathway	cytosol	GTP binding|GTPase activity|protein binding	g.chr21:42807818G>A		CCDS13673.1, CCDS74796.1	21q22.3	2014-07-15	2014-07-15		ENSG00000157601	ENSG00000157601			7532	protein-coding gene	gene with protein product	"interferon-inducible protein p78"	147150	"myxovirus (influenza) resistance 1, homolog of murine (interferon-inducible protein p78)", "myxovirus (influenza virus) resistance 1, interferon-inducible protein p78 (mouse)"			17570575	Standard	XM_005260979		Approved	IFI-78K, MxA	uc010goq.3	P20591	OTTHUMG00000086755	ENST00000398600.2:c.160G>A	21.37:g.42807818G>A	ENSP00000381601:p.Asp54Asn					MX1_ENST00000398598.3_Missense_Mutation_p.D54N|MX1_ENST00000288383.6_Missense_Mutation_p.D54N|MX1_ENST00000455164.2_Missense_Mutation_p.D54N	p.D54N	NM_001144925.1	NP_001138397.1	P20591	MX1_HUMAN			8	1185	+		Prostate(19;3.18e-07)|all_epithelial(19;0.0277)	54					B2RDA5|B3KU10|C9IYV7|C9J8D6|C9JN19|C9JN88|C9JUL1|C9JZS6|D3DSI8|Q86YP5|Q96CI3	Missense_Mutation	SNP	ENST00000398600.2	37	c.160G>A	CCDS13673.1	.	.	.	.	.	.	.	.	.	.	G	35	5.501500	0.96371	4.54E-4	0.0	ENSG00000157601	ENST00000398600;ENST00000413778;ENST00000398598;ENST00000455164;ENST00000424365;ENST00000417963;ENST00000441677;ENST00000288383	D;D;D;D;D;D	0.96168	-2.75;-2.75;-2.75;-3.93;-3.93;-3.18	4.48	4.48	0.54585	Dynamin, GTPase domain (1);	0.045838	0.85682	D	0.000000	D	0.97867	0.9299	M	0.87097	2.86	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98745	1.0718	10	0.87932	D	0	-64.1744	16.5923	0.84769	0.0:0.0:1.0:0.0	.	54	P20591	MX1_HUMAN	N	54	ENSP00000381601:D54N;ENSP00000381599:D54N;ENSP00000410523:D54N;ENSP00000400923:D54N;ENSP00000402215:D54N;ENSP00000288383:D54N	ENSP00000288383:D54N	D	+	1	0	MX1	41729688	1.000000	0.71417	0.984000	0.44739	0.967000	0.64934	6.628000	0.74262	2.445000	0.82738	0.561000	0.74099	GAC		0.582	MX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195161.2			7	150	0	0	0	0.00448238	0	7	150					A	42807818	G	A	42807818	3	1	73	1	0	0	0	0	1	0	0	0	9997	1058	37	2	166	2	MX1	21	42807818	Missense_Mutation	SNP	G	TCGA-EJ-5527-01A-01D-1576-08		42807818	5322077	61	3836											
MFNG	4242	broad.mit.edu	37	chr22	37875495	37875495	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcagaagctgcagcagcgccCttgggttcacatagttgtca	9	10	11	11	1	3	1	3	0	0	1	3	1	3	1	1	1	4	5	1	1	2	4			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr22:37875495C>A	ENST00000356998.3	-	4	672	c.449G>T	c.(448-450)aGg>aTg	p.R150M	MFNG_ENST00000416983.3_Missense_Mutation_p.R136M	NM_002405.3	NP_002396.2	O00587	MFNG_HUMAN	MFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase	150					pattern specification process (GO:0007389)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of protein binding (GO:0032092)	extracellular space (GO:0005615)|integral component of Golgi membrane (GO:0030173)	metal ion binding (GO:0046872)|O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase activity (GO:0033829)			large_intestine(2)|lung(2)|skin(1)	5	Melanoma(58;0.0574)					CAGCAGCGCCCTTGGGTTCAC	0.617																																						ENST00000356998.3																			0				large_intestine(2)|lung(2)|skin(1)	5						c.(448-450)aGg>aTg		MFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase							87	75	79					22																	37875495		2203	4300	6503	SO:0001583	missense	4242				pattern specification process	extracellular space|integral to Golgi membrane	O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase activity	g.chr22:37875495C>A	BC094814	CCDS13947.1, CCDS54525.1	22q13.1	2013-02-19	2006-11-13		ENSG00000100060	ENSG00000100060	2.4.1.222	"Beta 3-glycosyltransferases"	7038	protein-coding gene	gene with protein product		602577	"manic fringe (Drosophila) homolog", "manic fringe homolog (Drosophila)"			9878264, 9187150	Standard	NM_002405		Approved		uc003ass.2	O00587	OTTHUMG00000150560	ENST00000356998.3:c.449G>T	22.37:g.37875495C>A	ENSP00000349490:p.Arg150Met					MFNG_ENST00000416983.3_Missense_Mutation_p.R136M	p.R150M	NM_002405.3	NP_002396.2	O00587	MFNG_HUMAN			4	672	-	Melanoma(58;0.0574)		150					B4DLT6|O43730|Q504S9	Missense_Mutation	SNP	ENST00000356998.3	37	c.449G>T	CCDS13947.1	.	.	.	.	.	.	.	.	.	.	c	12.03	1.814329	0.32053	.	.	ENSG00000100060	ENST00000416983;ENST00000356998;ENST00000436341;ENST00000442496	T;T;T;T	0.76839	-1.05;-1.05;-1.05;-0.11	5.18	1.32	0.21799	.	0.902730	0.09639	N	0.775216	T	0.72867	0.3514	L	0.49778	1.585	0.09310	N	1	P;P	0.47034	0.889;0.889	P;P	0.48524	0.58;0.58	T	0.61983	-0.6950	10	0.49607	T	0.09	-2.2344	1.4582	0.02390	0.156:0.4227:0.1534:0.2679	.	136;150	B4DLT6;O00587	.;MFNG_HUMAN	M	136;150;28;28	ENSP00000413855:R136M;ENSP00000349490:R150M;ENSP00000394081:R28M;ENSP00000389274:R28M	ENSP00000349490:R150M	R	-	2	0	MFNG	36205441	0.000000	0.05858	0.001000	0.08648	0.303000	0.27691	-0.372000	0.07504	0.518000	0.28383	0.486000	0.48141	AGG		0.617	MFNG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318902.1	NM_002405		4	80	1	0	1.23904e-05	0.000602214	3.53042e-05	4	80					A	37875495	C	A	37875495	3	1	73	1	0	0	0	0	1	0	0	0	9525	681	24	5	536	5	MFNG	22	37875495	Missense_Mutation	SNP	C	TCGA-EJ-5527-01A-01D-1576-08		37875495	13429071	62	3837											
TCF20	6942	broad.mit.edu	37	chr22	42610895	42610895	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggccagagtgctgtgcttgAaactggcccacatgaccctc	9	8	11	13	0	0	3	0	2	0	1	1	3	0	3	3	2	3	2	3	2	1	1			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr22:42610895A>G	ENST00000359486.3	-	1	553	c.417T>C	c.(415-417)ttT>ttC	p.F139F	TCF20_ENST00000335626.4_Silent_p.F139F	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN	transcription factor 20 (AR1)	139					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)	p.F139F(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						GCTGTGCTTGAAACTGGCCCA	0.577																																						ENST00000359486.3																			1	Substitution - coding silent(1)	p.F139F(1)	prostate(1)	breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						c.(415-417)ttT>ttC		transcription factor 20 (AR1)							104	94	97					22																	42610895		2203	4300	6503	SO:0001819	synonymous_variant	6942				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding	g.chr22:42610895A>G	U19345	CCDS14032.1, CCDS14033.1	22q13.3	2011-02-08			ENSG00000100207	ENSG00000100207			11631	protein-coding gene	gene with protein product	"stromelysin-1 platelet-derived growth factor-responsive element binding protein"	603107				9730594, 10995766	Standard	NM_005650		Approved	AR1, SPBP	uc003bcj.1	Q9UGU0	OTTHUMG00000150920	ENST00000359486.3:c.417T>C	22.37:g.42610895A>G						TCF20_ENST00000335626.4_Silent_p.F139F	p.F139F	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN			1	553	-			139					A9JX12|O14528|Q13078|Q4V353|Q9H4M0	Silent	SNP	ENST00000359486.3	37	c.417T>C	CCDS14033.1																																																																																				0.577	TCF20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320531.1	NM_181492		56	162	0	0	0	0.00361006	0	56	162					G	42610895	A	G	42610895	2	3	73	1	0	0	0	0	0	0	0	1	15687	243	9	4		4	TCF20	22	42610895	Silent	SNP	A	TCGA-EJ-5527-01A-01D-1576-08	4735400	42610895	8693671	63	3838											
BCOR	54880	broad.mit.edu	37	chrX	39914706	39914706	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccaaggtggggtcagcaccAtaagagagaagtagtcggac	13	5	15	8	1	1	2	1	0	0	2	2	4	1	3	2	4	1	2	2	4	4	2			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chrX:39914706A>G	ENST00000378444.4	-	12	4884	c.4656T>C	c.(4654-4656)taT>taC	p.Y1552Y	BCOR_ENST00000397354.3_Silent_p.Y1518Y|BCOR_ENST00000342274.4_Silent_p.Y1518Y|BCOR_ENST00000378463.1_Silent_p.Y395Y|BCOR_ENST00000378455.4_Silent_p.Y1500Y	NM_001123385.1	NP_001116857.1	Q6W2J9	BCOR_HUMAN	BCL6 corepressor	1552					heart development (GO:0007507)|histone H2A monoubiquitination (GO:0035518)|negative regulation of bone mineralization (GO:0030502)|negative regulation of histone H3-K36 methylation (GO:0000415)|negative regulation of histone H3-K4 methylation (GO:0051572)|negative regulation of tooth mineralization (GO:0070171)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|odontogenesis (GO:0042476)|palate development (GO:0060021)|specification of axis polarity (GO:0065001)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	heat shock protein binding (GO:0031072)|histone deacetylase binding (GO:0042826)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)	p.Y1518Y(2)		breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						GGTCAGCACCATAAGAGAGAA	0.453			"F, N, S, T"	RARA	"retinoblastoma, AML, APL(translocation)"		oculo-facio-cardio-dental genetic																															ENST00000342274.4				Rec	yes		X	Xp11.4	54880	"F, N, S, T"	BCL6 corepressor	yes	oculo-facio-cardio-dental genetic		RARA		"retinoblastoma, AML, APL(translocation)"		2	Substitution - coding silent(2)	p.Y1518Y(2)	prostate(2)	breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						c.(4552-4554)taT>taC		BCL6 corepressor							137	113	121					X																	39914706		2202	4300	6502	SO:0001819	synonymous_variant	54880				heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent	nucleus	heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding	g.chrX:39914706A>G	AF317391	CCDS14250.1, CCDS48092.1, CCDS48093.1	Xp11.4	2014-09-17	2010-06-10		ENSG00000183337	ENSG00000183337		"Ankyrin repeat domain containing"	20893	protein-coding gene	gene with protein product		300485	"BCL6 co-repressor"			10898795	Standard	NM_017745		Approved	FLJ20285, KIAA1575	uc004den.4	Q6W2J9	OTTHUMG00000024100	ENST00000378444.4:c.4656T>C	X.37:g.39914706A>G						BCOR_ENST00000378463.1_Silent_p.Y395Y|BCOR_ENST00000378444.4_Silent_p.Y1552Y|BCOR_ENST00000378455.4_Silent_p.Y1500Y|BCOR_ENST00000397354.3_Silent_p.Y1518Y	p.Y1518Y	NM_001123383.1	NP_001116855.1	Q6W2J9	BCOR_HUMAN			12	4916	-			1552					D3DWB3|D3DWB4|Q29RF6|Q6P4B6|Q7Z2K7|Q8TEB4|Q96DB3|Q9H232|Q9H233|Q9HCJ7|Q9NXF2	Silent	SNP	ENST00000378444.4	37	c.4554T>C	CCDS48093.1	.	.	.	.	.	.	.	.	.	.	A	4.786	0.146077	0.09134	.	.	ENSG00000183337	ENST00000427012	.	.	.	5.53	-0.201	0.13212	.	.	.	.	.	T	0.59824	0.2222	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.56318	-0.7999	4	.	.	.	-11.723	12.5498	0.56220	0.7248:0.0:0.2752:0.0	.	.	.	.	T	247	.	.	M	-	2	0	BCOR	39799650	1.000000	0.71417	0.995000	0.50966	0.430000	0.31655	1.113000	0.31184	-0.050000	0.13356	-1.351000	0.01236	ATG		0.453	BCOR-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060666.2	NM_017745		8	83	0	0	0	0.000673444	0	8	83					G	39914706	A	G	39914706	2	3	73	1	0	0	0	0	0	0	0	1	1386	224	8	4		4	BCOR	23	39914706	Silent	SNP	A	TCGA-EJ-5527-01A-01D-1576-08		39914706	115355854	64	3839											
SLITRK4	139065	broad.mit.edu	37	chrX	142717743	142717743	+	Frame_Shift_Del	DEL	T	T	-																															tcaaagtcagtgaagtctgaTacgtccacatccttgatgct																										TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chrX:142717743delT	ENST00000381779.4	-	2	1407	c.1182delA	c.(1180-1182)gtafs	p.V394fs	SLITRK4_ENST00000356928.1_Frame_Shift_Del_p.V394fs|SLITRK4_ENST00000338017.4_Frame_Shift_Del_p.V394fs	NM_001184749.2|NM_001184750.1|NM_173078.4	NP_001171678.1|NP_001171679.1|NP_775101.1	Q8IW52	SLIK4_HUMAN	SLIT and NTRK-like family, member 4	394						integral component of membrane (GO:0016021)				autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(27)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	60	Acute lymphoblastic leukemia(192;6.56e-05)					TGAAGTCTGATACGTCCACAT	0.393																																						ENST00000381779.4																			0				autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(27)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	60						c.(1180-1182)gtfs		SLIT and NTRK-like family, member 4							196	159	171					X																	142717743		2203	4300	6503	SO:0001589	frameshift_variant	139065					integral to membrane		g.chrX:142717743delT	BC040986	CCDS14679.1	Xq27.3	2004-06-23			ENSG00000179542	ENSG00000179542			23502	protein-coding gene	gene with protein product		300562				14557068	Standard	NM_001184749		Approved	DKFZp547M2010	uc004fby.3	Q8IW52	OTTHUMG00000022580	ENST00000381779.4:c.1182delA	X.37:g.142717743delT	ENSP00000371198:p.Val394fs					SLITRK4_ENST00000338017.4_Frame_Shift_Del_p.V394fs|SLITRK4_ENST00000356928.1_Frame_Shift_Del_p.V394fs	p.V394fs	NM_001184749.1|NM_001184750.1|NM_173078.3	NP_001171678.1|NP_001171679.1|NP_775101.1	Q8IW52	SLIK4_HUMAN			2	1407	-	Acute lymphoblastic leukemia(192;6.56e-05)		394					Q5JXG3|Q8TCM8|Q96DL3	Frame_Shift_Del	DEL	ENST00000381779.4	37	c.1182delA	CCDS14679.1																																																																																				0.393	SLITRK4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058617.1	NM_173078		110	164						110	164	---	---	---	---	-	142717743	T	-	142717743	7	5	73	1	0	1	0	1	0	0	0	0	14745	1393	49	0	1335	0	SLITRK4	23	142717743	Frame_Shift_Del	DEL	T	TCGA-EJ-5527-01A-01D-1576-08	102803037	142717743	12552817	65	3840											
CAMTA1	23261	broad.mit.edu	37	chr1	7700505	7700505	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	acctgaacgtgccggccatcGaggactgcggcaagccttgc	8	6	13	14	4	0	1	0	1	0	0	1	3	0	2	4	3	5	1	4	3	2	1			TCGA-EJ-5530-01A-01D-1576-08	TCGA-EJ-5530-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058daa8b-f3ee-4992-b05e-91c13d9945ec	b153654d-dc6f-4409-afb3-30fd935ea8b5	g.chr1:7700505G>A	ENST00000303635.7	+	7	763	c.556G>A	c.(556-558)Gag>Aag	p.E186K	CAMTA1_ENST00000439411.2_Missense_Mutation_p.E186K	NM_015215.2	NP_056030.1	Q9Y6Y1	CMTA1_HUMAN	calmodulin binding transcription activator 1	186					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.E186K(2)		breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		GCCGGCCATCGAGGACTGCGG	0.612			T	WWTR1	epitheliod hemangioendothelioma																																	ENST00000303635.7				Dom	yes		1	1p36.31-p36.23	611501	T	calmodulin binding transcription activator 1			M	WWTR1		epitheliod hemangioendothelioma		2	Substitution - Missense(2)	p.E186K(2)	prostate(1)|lung(1)	breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85						c.(556-558)Gag>Aag		calmodulin binding transcription activator 1							139	113	121					1																	7700505		2203	4300	6503	SO:0001583	missense	23261				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding	g.chr1:7700505G>A	AB020640	CCDS30576.1, CCDS55574.1, CCDS55575.1	1p36.31-p36.23	2008-07-18			ENSG00000171735	ENSG00000171735			18806	protein-coding gene	gene with protein product		611501				11925432	Standard	NM_001195563		Approved	KIAA0833	uc001aoi.3	Q9Y6Y1	OTTHUMG00000001212	ENST00000303635.7:c.556G>A	1.37:g.7700505G>A	ENSP00000306522:p.Glu186Lys					CAMTA1_ENST00000439411.2_Missense_Mutation_p.E186K	p.E186K	NM_015215.2	NP_056030.1	Q9Y6Y1	CMTA1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)	7	763	+	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)	186					A7MBM4|G3V3Z7|Q5VUE1|Q6V701|Q8WYI3|Q96S92	Missense_Mutation	SNP	ENST00000303635.7	37	c.556G>A	CCDS30576.1	.	.	.	.	.	.	.	.	.	.	G	25.6	4.656932	0.88154	.	.	ENSG00000171735	ENST00000303635;ENST00000439411	T;T	0.25912	1.77;1.77	5.36	5.36	0.76844	CG-1 (1);	0.000000	0.85682	D	0.000000	T	0.38321	0.1036	L	0.27053	0.805	0.80722	D	1	D	0.76494	0.999	D	0.70716	0.97	T	0.06844	-1.0804	10	0.25751	T	0.34	-24.0721	19.0961	0.93251	0.0:0.0:1.0:0.0	.	186	Q9Y6Y1	CMTA1_HUMAN	K	186	ENSP00000306522:E186K;ENSP00000402561:E186K	ENSP00000306522:E186K	E	+	1	0	CAMTA1	7623092	1.000000	0.71417	1.000000	0.80357	0.854000	0.48673	9.764000	0.98949	2.506000	0.84524	0.462000	0.41574	GAG		0.612	CAMTA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000003588.3	NM_015215		4	82	0	0	0	1	0	4	82					A	7700505	G	A	7700505	3	1	74	1	0	0	0	0	1	0	0	0	2613	1059	37	2	582	2	CAMTA1	1	7700505	Missense_Mutation	SNP	G	TCGA-EJ-5530-01A-01D-1576-08		7700505	241550116	1	3841											
GPR157	80045	broad.mit.edu	37	chr1	9171452	9171452	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	acatggtccttggcctccagGtcgatccagcaccagcccac	8	7	9	17	1	0	0	0	0	0	0	4	1	3	0	6	3	2	1	6	3	0	1			TCGA-EJ-5530-01A-01D-1576-08	TCGA-EJ-5530-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058daa8b-f3ee-4992-b05e-91c13d9945ec	b153654d-dc6f-4409-afb3-30fd935ea8b5	g.chr1:9171452G>A	ENST00000377411.4	-	2	622	c.480C>T	c.(478-480)gaC>gaT	p.D160D	GPR157_ENST00000414642.2_Silent_p.D160D	NM_024980.4	NP_079256.4	Q5UAW9	GP157_HUMAN	G protein-coupled receptor 157	160						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.D160D(1)		lung(4)|prostate(1)	5	all_lung(157;0.185)	all_epithelial(116;5.02e-20)|all_lung(118;3.6e-06)|Lung NSC(185;7.93e-06)|Renal(390;0.000147)|Breast(348;0.000688)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.16e-07)|COAD - Colon adenocarcinoma(227;7.73e-05)|Kidney(185;0.000252)|KIRC - Kidney renal clear cell carcinoma(229;0.000917)|STAD - Stomach adenocarcinoma(132;0.00178)|BRCA - Breast invasive adenocarcinoma(304;0.00186)|READ - Rectum adenocarcinoma(331;0.0642)		TGGCCTCCAGGTCGATCCAGC	0.617											OREG0013073	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000377411.4																			1	Substitution - coding silent(1)	p.D160D(1)	prostate(1)	lung(4)|prostate(1)	5						c.(478-480)gaC>gaT		G protein-coupled receptor 157							118	102	107					1																	9171452		2203	4300	6503	SO:0001819	synonymous_variant	80045					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr1:9171452G>A	AK022194	CCDS100.2	1p36.22	2012-08-21			ENSG00000180758	ENSG00000180758		"GPCR / Class B : Orphans"	23687	protein-coding gene	gene with protein product						10574461	Standard	XM_005263496		Approved	FLJ12132	uc001apq.1	Q5UAW9	OTTHUMG00000001758	ENST00000377411.4:c.480C>T	1.37:g.9171452G>A			OREG0013073	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	654	GPR157_ENST00000414642.2_Silent_p.D160D	p.D160D	NM_024980.4	NP_079256.4	Q5UAW9	GP157_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.16e-07)|COAD - Colon adenocarcinoma(227;7.73e-05)|Kidney(185;0.000252)|KIRC - Kidney renal clear cell carcinoma(229;0.000917)|STAD - Stomach adenocarcinoma(132;0.00178)|BRCA - Breast invasive adenocarcinoma(304;0.00186)|READ - Rectum adenocarcinoma(331;0.0642)	2	622	-	all_lung(157;0.185)	all_epithelial(116;5.02e-20)|all_lung(118;3.6e-06)|Lung NSC(185;7.93e-06)|Renal(390;0.000147)|Breast(348;0.000688)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)	160					A2A334|Q8WWB8|Q9HA73	Silent	SNP	ENST00000377411.4	37	c.480C>T	CCDS100.2																																																																																				0.617	GPR157-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127658.2	NM_024980		14	68	0	0	0	1	0	14	68					A	9171452	G	A	9171452	2	1	74	1	0	0	0	0	0	0	0	1	6662	1252	44	3		3	GPR157	1	9171452	Silent	SNP	G	TCGA-EJ-5530-01A-01D-1576-08	1470947	9171452	240079169	2	3842											
TCEB3	6924	broad.mit.edu	37	chr1	24080617	24080617	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcaccccaggaagaagaagAagctggatttactgggcgca	13	7	12	9	1	1	3	1	0	0	3	1	5	1	5	2	3	2	2	2	3	5	3	rs144826294	byFrequency	TCGA-EJ-5530-01A-01D-1576-08	TCGA-EJ-5530-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058daa8b-f3ee-4992-b05e-91c13d9945ec	b153654d-dc6f-4409-afb3-30fd935ea8b5	g.chr1:24080617A>C	ENST00000418390.2	+	6	1914	c.1643A>C	c.(1642-1644)gAa>gCa	p.E548A	TCEB3_ENST00000609199.1_Missense_Mutation_p.E522A	NM_003198.2	NP_003189.2	Q14241	ELOA1_HUMAN	transcription elongation factor B (SIII), polypeptide 3 (110kDa, elongin A)	548	Activation domain. {ECO:0000250}.				gene expression (GO:0010467)|positive regulation of viral transcription (GO:0050434)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)	p.E522A(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	19		Colorectal(325;3.46e-05)|Lung NSC(340;0.000112)|all_lung(284;0.00016)|Renal(390;0.000219)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;2.42e-24)|Colorectal(126;5.5e-08)|COAD - Colon adenocarcinoma(152;3.09e-06)|GBM - Glioblastoma multiforme(114;4.74e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000973)|KIRC - Kidney renal clear cell carcinoma(1967;0.00334)|STAD - Stomach adenocarcinoma(196;0.0127)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.187)		GAAGAAGAAGAAGCTGGATTT	0.478													A|||	3	0.000599042	0.0023	0	5008	,	,		20871	0		0	False		,,,				2504	0					ENST00000418390.2																			1	Substitution - Missense(1)	p.E522A(1)	prostate(1)	breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	19						c.(1642-1644)gAa>gCa		transcription elongation factor B (SIII), polypeptide 3 (110kDa, elongin A)		A	ALA/GLU	6,4400	11.4+/-27.6	0,6,2197	110	101	104		1643	5.7	1	1	dbSNP_134	104	2,8598	2.2+/-6.3	0,2,4298	yes	missense	TCEB3	NM_003198.2	107	0,8,6495	CC,CA,AA		0.0233,0.1362,0.0615	benign	548/799	24080617	8,12998	2203	4300	6503	SO:0001583	missense	6924				positive regulation of viral transcription|regulation of transcription from RNA polymerase II promoter|transcription elongation from RNA polymerase II promoter|viral reproduction	integral to membrane	DNA binding	g.chr1:24080617A>C	L47345	CCDS239.2	1p36.1	2010-06-22	2002-08-29		ENSG00000011007	ENSG00000011007			11620	protein-coding gene	gene with protein product		600786	"transcription elongation factor B (SIII), polypeptide 3 (110kD, elongin A)"			8586449, 7660129	Standard	NM_003198		Approved	SIII, TCEB3A	uc001bho.3	Q14241	OTTHUMG00000002957	ENST00000418390.2:c.1643A>C	1.37:g.24080617A>C	ENSP00000395574:p.Glu548Ala						p.E548A	NM_003198.2	NP_003189.2	Q14241	ELOA1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;2.42e-24)|Colorectal(126;5.5e-08)|COAD - Colon adenocarcinoma(152;3.09e-06)|GBM - Glioblastoma multiforme(114;4.74e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000973)|KIRC - Kidney renal clear cell carcinoma(1967;0.00334)|STAD - Stomach adenocarcinoma(196;0.0127)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.187)	6	1914	+		Colorectal(325;3.46e-05)|Lung NSC(340;0.000112)|all_lung(284;0.00016)|Renal(390;0.000219)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)	548			Activation domain (By similarity).		B2R7Q8|Q8IXH1	Missense_Mutation	SNP	ENST00000418390.2	37	c.1643A>C	CCDS239.2	3	0.0013736263736263737	3	0.006097560975609756	0	0.0	0	0.0	0	0.0	A	25.2	4.610673	0.87258	0.001362	2.33E-4	ENSG00000011007	ENST00000418390	T	0.07688	3.17	5.71	5.71	0.89125	.	0.090906	0.47455	D	0.000228	T	0.06325	0.0163	N	0.25060	0.705	0.51012	D	0.999908	P	0.52577	0.954	P	0.47206	0.541	T	0.08597	-1.0714	10	0.66056	D	0.02	-23.7417	11.9106	0.52737	0.8547:0.1453:0.0:0.0	.	548	Q14241	ELOA1_HUMAN	A	548	ENSP00000395574:E548A	ENSP00000395574:E548A	E	+	2	0	TCEB3	23953204	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.120000	0.64685	2.179000	0.69175	0.379000	0.24179	GAA		0.478	TCEB3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000008230.2	NM_003198		5	189	0	0	0	1	0	5	189					C	24080617	A	C	24080617	3	2	74	1	0	0	0	0	1	0	0	0	15678	246	9	5	1665	5	TCEB3	1	24080617	Missense_Mutation	SNP	A	TCGA-EJ-5530-01A-01D-1576-08	14909165	24080617	225170004	3	3843											
C1orf201	90529	broad.mit.edu	37	chr1	24706307	24706307	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agaaatgatggtgtccaatcGggcgcactgtaaggagacaa	14	7	13	7	2	0	3	0	1	0	2	2	4	1	3	1	3	0	2	1	3	4	1			TCGA-EJ-5530-01A-01D-1576-08	TCGA-EJ-5530-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058daa8b-f3ee-4992-b05e-91c13d9945ec	b153654d-dc6f-4409-afb3-30fd935ea8b5	g.chr1:24706307G>C	ENST00000374409.1	-	5	552	c.298C>G	c.(298-300)Cga>Gga	p.R100G	STPG1_ENST00000003583.8_Missense_Mutation_p.R53G|STPG1_ENST00000468303.1_5'UTR|STPG1_ENST00000440416.1_Missense_Mutation_p.R53G|STPG1_ENST00000337248.4_Missense_Mutation_p.R100G	NM_001199012.1	NP_001185941.1	Q5TH74	STPG1_HUMAN	sperm-tail PG-rich repeat containing 1	100					apoptotic process (GO:0006915)	cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.R53G(1)									GTGTCCAATCGGGCGCACTGT	0.423																																						ENST00000374409.1																			1	Substitution - Missense(1)	p.R53G(1)	prostate(1)								c.(298-300)Cga>Gga		sperm-tail PG-rich repeat containing 1							70	69	70					1																	24706307		2203	4300	6503	SO:0001583	missense	90529							g.chr1:24706307G>C	BC047705	CCDS253.1, CCDS55581.1	1p36.11	2012-10-31	2012-07-30	2012-07-30	ENSG00000001460	ENSG00000001460			28070	protein-coding gene	gene with protein product	"O6-methylguanine-induced apoptosis 2"	615826	"chromosome 1 open reading frame 201"	C1orf201		23028632	Standard	NM_001199012		Approved	FLJ33340, MAPO2	uc001bjc.3	Q5TH74	OTTHUMG00000003297	ENST00000374409.1:c.298C>G	1.37:g.24706307G>C	ENSP00000363530:p.Arg100Gly					STPG1_ENST00000468303.1_5'UTR|STPG1_ENST00000440416.1_Missense_Mutation_p.R53G|STPG1_ENST00000003583.8_Missense_Mutation_p.R53G|STPG1_ENST00000337248.4_Missense_Mutation_p.R100G	p.R100G	NM_001199012.1	NP_001185941.1					5	552	-								Q49AP0|Q6P3R4|Q86VU9|Q8WVQ3	Missense_Mutation	SNP	ENST00000374409.1	37	c.298C>G	CCDS55581.1	.	.	.	.	.	.	.	.	.	.	G	10.37	1.330804	0.24167	.	.	ENSG00000001460	ENST00000374409;ENST00000440416;ENST00000003583;ENST00000337248;ENST00000437986;ENST00000438866;ENST00000374404	.	.	.	5.79	3.83	0.44106	.	0.000000	0.64402	D	0.000004	T	0.65688	0.2715	M	0.76328	2.33	0.20926	N	0.999821	D;D	0.76494	0.999;0.999	D;D	0.74023	0.982;0.969	T	0.59434	-0.7455	9	0.87932	D	0	-40.5377	11.2939	0.49267	0.0:0.0:0.6687:0.3313	.	100;53	Q5TH74;Q5TH74-3	CA201_HUMAN;.	G	100;53;53;100;100;3;4	.	ENSP00000003583:R53G	R	-	1	2	C1orf201	24578894	0.997000	0.39634	0.057000	0.19452	0.014000	0.08584	2.419000	0.44671	0.710000	0.31997	0.563000	0.77884	CGA		0.423	STPG1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009172.1	NM_178122		6	89	0	0	0	1	0	6	89					C	24706307	G	C	24706307	3	2	74	1	0	0	0	0	1	0	0	0	2027	1124	39	5	726	5	C1orf201	1	24706307	Missense_Mutation	SNP	G	TCGA-EJ-5530-01A-01D-1576-08	625690	24706307	224544314	4	3844											
AKR1A1	10327	broad.mit.edu	37	chr1	46034256	46034256	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	gccctttgggctcctctgatCgtgcatggcgtgatcctgat	4	13	12	12	2	1	3	0	3	1	0	4	3	3	3	3	2	1	2	3	2	0	1			TCGA-EJ-5530-01A-01D-1576-08	TCGA-EJ-5530-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058daa8b-f3ee-4992-b05e-91c13d9945ec	b153654d-dc6f-4409-afb3-30fd935ea8b5	g.chr1:46034256C>G	ENST00000372070.3	+	7	1399	c.652C>G	c.(652-654)Cgt>Ggt	p.R218G	AKR1A1_ENST00000351829.4_Missense_Mutation_p.R218G|AKR1A1_ENST00000473038.1_Intron	NM_001202413.1|NM_001202414.1|NM_006066.3	NP_001189342.1|NP_001189343.1|NP_006057.1	P14550	AK1A1_HUMAN	aldo-keto reductase family 1, member A1 (aldehyde reductase)	218					aldehyde catabolic process (GO:0046185)|cellular aldehyde metabolic process (GO:0006081)|D-glucuronate catabolic process (GO:0042840)|glucose metabolic process (GO:0006006)|L-ascorbic acid biosynthetic process (GO:0019853)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	alditol:NADP+ 1-oxidoreductase activity (GO:0004032)|electron carrier activity (GO:0009055)|L-glucuronate reductase activity (GO:0047939)	p.R218G(1)		lung(3)|prostate(1)|urinary_tract(1)	5	Acute lymphoblastic leukemia(166;0.155)				Doxorubicin(DB00997)	CTCCTCTGATCGTGCATGGCG	0.542																																						ENST00000372070.3																			1	Substitution - Missense(1)	p.R218G(1)	prostate(1)	lung(3)|prostate(1)|urinary_tract(1)	5						c.(652-654)Cgt>Ggt		aldo-keto reductase family 1, member A1 (aldehyde reductase)							107	88	94					1																	46034256		2203	4300	6503	SO:0001583	missense	10327				glucose metabolic process		alditol:NADP+ 1-oxidoreductase activity|electron carrier activity|protein binding	g.chr1:46034256C>G	J04794	CCDS523.1	1p33-p32	2010-04-08			ENSG00000117448	ENSG00000117448	1.1.1.2	"Aldo-keto reductases"	380	protein-coding gene	gene with protein product	"dihydrodiol dehydrogenase 3"	103830				2498333, 10393438	Standard	NM_001202414		Approved	ALR, DD3	uc001coe.3	P14550	OTTHUMG00000007740	ENST00000372070.3:c.652C>G	1.37:g.46034256C>G	ENSP00000361140:p.Arg218Gly					AKR1A1_ENST00000351829.4_Missense_Mutation_p.R218G	p.R218G	NM_001202413.1|NM_001202414.1|NM_006066.3	NP_001189342.1|NP_001189343.1|NP_006057.1	P14550	AK1A1_HUMAN			7	1399	+	Acute lymphoblastic leukemia(166;0.155)		218					A8KAL8|D3DQ04|Q6IAZ4	Missense_Mutation	SNP	ENST00000372070.3	37	c.652C>G	CCDS523.1	.	.	.	.	.	.	.	.	.	.	C	24.8	4.572253	0.86542	.	.	ENSG00000117448	ENST00000372070;ENST00000351829	T;T	0.30182	1.54;1.54	6.02	4.13	0.48395	NADP-dependent oxidoreductase domain (3);	0.046204	0.85682	D	0.000000	T	0.56321	0.1977	M	0.74546	2.27	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.62053	-0.6935	10	0.87932	D	0	.	15.645	0.77042	0.2512:0.7488:0.0:0.0	.	218	P14550	AK1A1_HUMAN	G	218	ENSP00000361140:R218G;ENSP00000312606:R218G	ENSP00000312606:R218G	R	+	1	0	AKR1A1	45806843	1.000000	0.71417	0.975000	0.42487	0.985000	0.73830	6.006000	0.70724	0.861000	0.35504	0.650000	0.86243	CGT		0.542	AKR1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000020851.1	NM_006066		10	118	0	0	0	1	0	10	118					G	46034256	C	G	46034256	3	3	74	1	0	0	0	0	1	0	0	0	465	884	31	5	670	5	AKR1A1	1	46034256	Missense_Mutation	SNP	C	TCGA-EJ-5530-01A-01D-1576-08	21327949	46034256	203216365	5	3845											
KCNA3	3738	broad.mit.edu	37	chr1	111216034	111216034	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcgatggtcaagacaccggcGatggcacagagagatcccac	12	4	13	12	3	1	3	1	0	0	3	2	6	2	3	2	3	0	1	2	3	1	0			TCGA-EJ-5530-01A-01D-1576-08	TCGA-EJ-5530-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058daa8b-f3ee-4992-b05e-91c13d9945ec	b153654d-dc6f-4409-afb3-30fd935ea8b5	g.chr1:111216034G>A	ENST00000369769.2	-	1	1621	c.1398C>T	c.(1396-1398)atC>atT	p.I466I		NM_002232.3	NP_002223.3	P22001	KCNA3_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 3	466					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	membrane raft (GO:0045121)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|outward rectifier potassium channel activity (GO:0015271)|voltage-gated ion channel activity (GO:0005244)	p.I466I(1)		endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(7)|ovary(4)|pancreas(1)|prostate(3)|skin(1)	38		all_cancers(81;3.92e-06)|all_epithelial(167;1.28e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Lung(183;0.0235)|Colorectal(144;0.0306)|all cancers(265;0.0752)|Epithelial(280;0.0821)|COAD - Colon adenocarcinoma(174;0.132)|LUSC - Lung squamous cell carcinoma(189;0.133)	Dalfampridine(DB06637)	AGACACCGGCGATGGCACAGA	0.527																																						ENST00000369769.2																			1	Substitution - coding silent(1)	p.I466I(1)	prostate(1)	endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(7)|ovary(4)|pancreas(1)|prostate(3)|skin(1)	38						c.(1396-1398)atC>atT		potassium voltage-gated channel, shaker-related subfamily, member 3							104	84	91					1																	111216034		2203	4300	6503	SO:0001819	synonymous_variant	3738					voltage-gated potassium channel complex	delayed rectifier potassium channel activity	g.chr1:111216034G>A	L23499	CCDS828.2	1p13.3	2012-07-05			ENSG00000177272	ENSG00000177272		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6221	protein-coding gene	gene with protein product		176263				2251283, 16382104	Standard	NM_002232		Approved	Kv1.3, MK3, HLK3, HPCN3	uc001dzv.1	P22001	OTTHUMG00000034493	ENST00000369769.2:c.1398C>T	1.37:g.111216034G>A							p.I466I	NM_002232.3	NP_002223.3	P22001	KCNA3_HUMAN		Lung(183;0.0235)|Colorectal(144;0.0306)|all cancers(265;0.0752)|Epithelial(280;0.0821)|COAD - Colon adenocarcinoma(174;0.132)|LUSC - Lung squamous cell carcinoma(189;0.133)	1	1621	-		all_cancers(81;3.92e-06)|all_epithelial(167;1.28e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)	466					Q5VWN2	Silent	SNP	ENST00000369769.2	37	c.1398C>T	CCDS828.2																																																																																				0.527	KCNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083391.1	NM_002232		3	96	0	0	0	1	0	3	96					A	111216034	G	A	111216034	2	1	74	1	0	0	0	0	0	0	0	1	8004	1048	37	2		2	KCNA3	1	111216034	Silent	SNP	G	TCGA-EJ-5530-01A-01D-1576-08	65181778	111216034	138034587	6	3846											
DCST2	127579	broad.mit.edu	37	chr1	155005742	155005743	+	Splice_Site	INS	-	-	G																															gtagtgtccggccctgccctINSgggggcgacagctttgttag																										TCGA-EJ-5530-01A-01D-1576-08	TCGA-EJ-5530-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058daa8b-f3ee-4992-b05e-91c13d9945ec	b153654d-dc6f-4409-afb3-30fd935ea8b5	g.chr1:155005742_155005743insG	ENST00000368424.3	-	2	327		c.e2-2		DCST1_ENST00000295542.1_5'Flank|DCST1_ENST00000392480.1_5'Flank|DCST2_ENST00000295536.5_Splice_Site|DCST1_ENST00000368419.2_5'Flank|DCST1_ENST00000423025.2_5'Flank	NM_144622.2	NP_653223.2	Q5T1A1	DCST2_HUMAN	DC-STAMP domain containing 2							integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|prostate(1)|skin(1)	38	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			GGCCCTGCCCTGGGGGCGACAG	0.569																																						ENST00000368424.3																			0				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|prostate(1)|skin(1)	38						c.e2-2		DC-STAMP domain containing 2																																				SO:0001630	splice_region_variant	127579					integral to membrane		g.chr1:155005742_155005743insG	AK057496	CCDS1082.2	1q22	2008-02-05		2005-08-09	ENSG00000163354	ENSG00000163354			26562	protein-coding gene	gene with protein product							Standard	NM_144622		Approved	FLJ32934	uc001fgm.3	Q5T1A1	OTTHUMG00000037371	ENST00000368424.3:c.269-2->C	1.37:g.155005747_155005747dupG						DCST2_ENST00000295536.5_Splice_Site		NM_144622.2	NP_653223.2	Q5T1A1	DCST2_HUMAN	BRCA - Breast invasive adenocarcinoma(34;0.00034)		2	327	-	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)							Q2M2R2|Q8N810|Q96M03	Splice_Site	INS	ENST00000368424.3	37		CCDS1082.2																																																																																				0.569	DCST2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090953.3	NM_144622	Intron	25	46						25	46	---	---	---	---	G	155005743	-	G	155005742	8	5	74	1	0	1	1	0	0	0	1	0	4303	1594	55	0	2110	0	DCST2	1	155005742	Splice_Site	INS	-	TCGA-EJ-5530-01A-01D-1576-08	43789708	155005742	94244879	7	3847											
ETV3	2117	broad.mit.edu	37	chr1	157104014	157104014	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gaaggatcctcttgttgtaaTagtatctgtaaaaacaggaa	15	12	9	5	0	2	0	0	0	2	0	3	3	3	2	1	2	1	4	1	2	8	6			TCGA-EJ-5530-01A-01D-1576-08	TCGA-EJ-5530-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058daa8b-f3ee-4992-b05e-91c13d9945ec	b153654d-dc6f-4409-afb3-30fd935ea8b5	g.chr1:157104014T>C	ENST00000368192.4	-	4	354	c.290A>G	c.(289-291)tAt>tGt	p.Y97C	ETV3_ENST00000460850.1_5'Flank|ETV3_ENST00000326786.4_Missense_Mutation_p.Y97C	NM_001145312.1	NP_001138784.1	P41162	ETV3_HUMAN	ets variant 3	97					cell differentiation (GO:0030154)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)	p.Y97C(2)		breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|prostate(2)	9	Hepatocellular(266;0.158)	Prostate(1639;0.174)				CTTGTTGTAATAGTATCTGTA	0.368																																						ENST00000368192.4																			2	Substitution - Missense(2)	p.Y97C(2)	prostate(2)	breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|prostate(2)	9						c.(289-291)tAt>tGt		ets variant 3							154	127	136					1																	157104014		2203	4300	6503	SO:0001583	missense	2117						sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr1:157104014T>C	BC022868	CCDS1164.1, CCDS44250.1	1q21-q23	2008-09-12	2008-09-12		ENSG00000117036	ENSG00000117036			3492	protein-coding gene	gene with protein product		164873	"ets variant gene 3, ETS family transcriptional repressor", "ets variant gene 3"			8020980	Standard	NM_005240		Approved	PE-1	uc001fqr.2	P41162	OTTHUMG00000034298	ENST00000368192.4:c.290A>G	1.37:g.157104014T>C	ENSP00000357175:p.Tyr97Cys					ETV3_ENST00000326786.4_Missense_Mutation_p.Y97C	p.Y97C	NM_001145312.1	NP_001138784.1	P41162	ETV3_HUMAN			4	354	-	Hepatocellular(266;0.158)	Prostate(1639;0.174)	97					B4E3M7|Q8TAC8|Q9BX30	Missense_Mutation	SNP	ENST00000368192.4	37	c.290A>G	CCDS44250.1	.	.	.	.	.	.	.	.	.	.	T	23.9	4.467197	0.84533	.	.	ENSG00000117036	ENST00000368192;ENST00000326786	T;T	0.45668	0.89;0.89	6.06	6.06	0.98353	Winged helix-turn-helix transcription repressor DNA-binding (1);Ets (5);	0.000000	0.64402	D	0.000009	T	0.63094	0.2482	M	0.86028	2.79	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.70292	-0.4912	10	0.87932	D	0	.	15.598	0.76602	0.0:0.0:0.0:1.0	.	97;97	P41162-2;P41162	.;ETV3_HUMAN	C	97	ENSP00000357175:Y97C;ENSP00000327316:Y97C	ENSP00000327316:Y97C	Y	-	2	0	ETV3	155370638	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.987000	0.88182	2.315000	0.78130	0.533000	0.62120	TAT		0.368	ETV3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000082843.2	NM_005240		9	90	0	0	0	1	0	9	90					C	157104014	T	C	157104014	3	2	74	1	0	0	0	0	1	0	0	0	5279	1406	49	4	1288	4	ETV3	1	157104014	Missense_Mutation	SNP	T	TCGA-EJ-5530-01A-01D-1576-08	2098272	157104014	92146607	8	3848											
CACNA1E	777	broad.mit.edu	37	chr1	181727100	181727100	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cagagggcgtgcatcgacttCgccatcagcgccaaacctct	9	7	10	15	4	2	1	1	0	1	1	4	2	2	1	3	1	3	1	3	1	1	1	rs368943151		TCGA-EJ-5530-01A-01D-1576-08	TCGA-EJ-5530-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058daa8b-f3ee-4992-b05e-91c13d9945ec	b153654d-dc6f-4409-afb3-30fd935ea8b5	g.chr1:181727100C>T	ENST00000367573.2	+	31	4347	c.4347C>T	c.(4345-4347)ttC>ttT	p.F1449F	CACNA1E_ENST00000357570.5_Silent_p.F1400F|CACNA1E_ENST00000526775.1_Silent_p.F1430F|CACNA1E_ENST00000360108.3_Silent_p.F1430F|CACNA1E_ENST00000367570.1_Silent_p.F1449F|CACNA1E_ENST00000367567.4_Silent_p.F1056F|CACNA1E_ENST00000358338.5_Silent_p.F1381F	NM_001205293.1	NP_001192222.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	1449					calcium ion import (GO:0070509)|energy reserve metabolic process (GO:0006112)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|voltage-gated calcium channel activity (GO:0005245)	p.F1449F(1)		NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						GCATCGACTTCGCCATCAGCG	0.522																																						ENST00000526775.1																			1	Substitution - coding silent(1)	p.F1449F(1)	prostate(1)	NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						c.(4288-4290)ttC>ttT		calcium channel, voltage-dependent, R type, alpha 1E subunit		C	,,	2,4266		0,2,2132	143	149	147		4347,4347,4290	-1.9	1	1		147	0,8472		0,0,4236	no	coding-synonymous,coding-synonymous,coding-synonymous	CACNA1E	NM_000721.3,NM_001205293.1,NM_001205294.1	,,	0,2,6368	TT,TC,CC		0.0,0.0469,0.0157	,,	1449/2271,1449/2314,1430/2252	181727100	2,12738	2134	4236	6370	SO:0001819	synonymous_variant	777				energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr1:181727100C>T	AK096563	CCDS53443.1, CCDS55664.1, CCDS55665.1	1q25.3	2013-01-10	2007-02-16		ENSG00000198216	ENSG00000198216		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels", "EF-hand domain containing"	1392	protein-coding gene	gene with protein product		601013		CACNL1A6		8388125, 16382099	Standard	NM_001205293		Approved	Cav2.3, BII, CACH6	uc009wxt.3	Q15878	OTTHUMG00000037301	ENST00000367573.2:c.4347C>T	1.37:g.181727100C>T						CACNA1E_ENST00000367567.4_Silent_p.F1056F|CACNA1E_ENST00000367573.2_Silent_p.F1449F|CACNA1E_ENST00000360108.3_Silent_p.F1430F|CACNA1E_ENST00000357570.5_Silent_p.F1400F|CACNA1E_ENST00000367570.1_Silent_p.F1449F|CACNA1E_ENST00000358338.5_Silent_p.F1381F	p.F1430F	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN			30	4455	+			1449					B1AM12|B1AM13|B1AM14|Q14580|Q14581	Silent	SNP	ENST00000367573.2	37	c.4290C>T	CCDS55664.1																																																																																				0.522	CACNA1E-003	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090793.2	NM_000721		14	122	0	0	0	1	0	14	122					T	181727100	C	T	181727100	2	4	74	1	0	0	0	0	0	0	0	1	2542	883	31	2		2	CACNA1E	1	181727100	Silent	SNP	C	TCGA-EJ-5530-01A-01D-1576-08	24623086	181727100	67523521	9	3849											
WDR64	128025	broad.mit.edu	37	chr1	241946665	241946665	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	acaagtggtacttactgcctCcatcgatggctcagtaaggt	10	11	10	10	1	1	0	1	0	0	0	3	1	2	0	2	3	3	3	2	3	4	3			TCGA-EJ-5530-01A-01D-1576-08	TCGA-EJ-5530-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058daa8b-f3ee-4992-b05e-91c13d9945ec	b153654d-dc6f-4409-afb3-30fd935ea8b5	g.chr1:241946665C>G	ENST00000366552.2	+	22	2864	c.2657C>G	c.(2656-2658)tCc>tGc	p.S886C	WDR64_ENST00000437684.2_Missense_Mutation_p.S719C	NM_144625.4	NP_653226.4	B1ANS9	WDR64_HUMAN	WD repeat domain 64	886								p.S886C(1)|p.S439C(1)		breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(17)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	Ovarian(103;0.103)	all_cancers(173;0.0121)	OV - Ovarian serous cystadenocarcinoma(106;0.0116)			CTTACTGCCTCCATCGATGGC	0.393																																						ENST00000366552.2																			2	Substitution - Missense(2)	p.S886C(1)|p.S439C(1)	prostate(2)	breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(17)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						c.(2656-2658)tCc>tGc		WD repeat domain 64							68	66	66					1																	241946665		2203	4300	6503	SO:0001583	missense	128025							g.chr1:241946665C>G	AK057540		1q43	2013-01-09			ENSG00000162843	ENSG00000162843		"WD repeat domain containing"	26570	protein-coding gene	gene with protein product							Standard	NM_144625		Approved	FLJ32978	uc001hzg.2	B1ANS9	OTTHUMG00000039705	ENST00000366552.2:c.2657C>G	1.37:g.241946665C>G	ENSP00000355510:p.Ser886Cys					WDR64_ENST00000437684.2_Missense_Mutation_p.S719C	p.S886C	NM_144625.4	NP_653226.4	B1ANS9	WDR64_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0116)		22	2864	+	Ovarian(103;0.103)	all_cancers(173;0.0121)	886					B1ANT0|Q7Z573|Q96LY9	Missense_Mutation	SNP	ENST00000366552.2	37	c.2657C>G		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.85|15.85	2.956251|2.956251	0.53293|0.53293	.|.	.|.	ENSG00000162843|ENSG00000162843	ENST00000425826|ENST00000366552;ENST00000437684;ENST00000414635	.|T;T;T	.|0.55234	.|1.92;0.53;4.64	5.82|5.82	5.82|5.82	0.92795|0.92795	.|WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	.|0.000000	.|0.64402	.|D	.|0.000003	T|T	0.76190|0.76190	0.3953|0.3953	M|M	0.84948|0.84948	2.725|2.725	0.28784|0.28784	N|N	0.899676|0.899676	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.97110	.|1.0;0.986	T|T	0.73914|0.73914	-0.3832|-0.3832	5|10	.|0.72032	.|D	.|0.01	-14.7717|-14.7717	17.0121|17.0121	0.86409|0.86409	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|886;439	.|B1ANS9;D1MPS4	.|WDR64_HUMAN;.	A|C	365|886;719;490	.|ENSP00000355510:S886C;ENSP00000402446:S719C;ENSP00000406656:S490C	.|ENSP00000355510:S886C	P|S	+|+	1|2	0|0	WDR64|WDR64	240013288|240013288	1.000000|1.000000	0.71417|0.71417	0.951000|0.951000	0.38953|0.38953	0.331000|0.331000	0.28603|0.28603	4.311000|4.311000	0.59147|0.59147	2.767000|2.767000	0.95098|0.95098	0.655000|0.655000	0.94253|0.94253	CCA|TCC		0.393	WDR64-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_144625		4	82	0	0	0	1	0	4	82					G	241946665	C	G	241946665	3	3	74	1	0	0	0	0	1	0	0	0	17312	855	30	5	2743	5	WDR64	1	241946665	Missense_Mutation	SNP	C	TCGA-EJ-5530-01A-01D-1576-08	60219565	241946665	7303956	10	3850											
PUM2	23369	broad.mit.edu	37	chr2	20458017	20458017	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caattacctgctggtcagaaGaaatagattctaatgctttc	13	13	7	8	0	2	3	1	0	1	3	3	3	2	3	1	1	3	2	1	1	6	5			TCGA-EJ-5530-01A-01D-1576-08	TCGA-EJ-5530-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058daa8b-f3ee-4992-b05e-91c13d9945ec	b153654d-dc6f-4409-afb3-30fd935ea8b5	g.chr2:20458017G>T	ENST00000361078.2	-	15	2493	c.2471C>A	c.(2470-2472)tCt>tAt	p.S824Y	PUM2_ENST00000319801.5_Missense_Mutation_p.S745Y|PUM2_ENST00000403432.1_Missense_Mutation_p.S824Y|PUM2_ENST00000536417.1_Missense_Mutation_p.S768Y|PUM2_ENST00000338086.5_Missense_Mutation_p.S824Y			Q8TB72	PUM2_HUMAN	pumilio RNA-binding family member 2	824	PUM-HD. {ECO:0000255|PROSITE- ProRule:PRU00318}.				regulation of translation (GO:0006417)|stress granule assembly (GO:0034063)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|nuclear membrane (GO:0031965)|perinuclear region of cytoplasm (GO:0048471)	poly(A) RNA binding (GO:0044822)	p.S824Y(1)		breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(7)|lung(13)|ovary(2)|prostate(4)|urinary_tract(3)	42	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTGGTCAGAAGAAATAGATTC	0.328																																						ENST00000361078.2																			1	Substitution - Missense(1)	p.S824Y(1)	prostate(1)	breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(7)|lung(13)|ovary(2)|prostate(4)|urinary_tract(3)	42						c.(2470-2472)tCt>tAt		pumilio RNA-binding family member 2							52	51	51					2																	20458017		2203	4300	6503	SO:0001583	missense	23369				regulation of translation	perinuclear region of cytoplasm|stress granule	protein binding|RNA binding	g.chr2:20458017G>T	AF315591	CCDS1698.1, CCDS74486.1, CCDS74487.1	2p22-p21	2013-09-02	2013-09-02		ENSG00000055917	ENSG00000055917			14958	protein-coding gene	gene with protein product		607205	"pumilio (Drosphila) homolog 2", "pumilio homolog 2 (Drosophila)"			9039502, 12459267, 12511597	Standard	XM_005262607		Approved	PUMH2, KIAA0235	uc002rds.1	Q8TB72	OTTHUMG00000122098	ENST00000361078.2:c.2471C>A	2.37:g.20458017G>T	ENSP00000354370:p.Ser824Tyr					PUM2_ENST00000403432.1_Missense_Mutation_p.S824Y|PUM2_ENST00000319801.5_Missense_Mutation_p.S745Y|PUM2_ENST00000338086.5_Missense_Mutation_p.S824Y|PUM2_ENST00000536417.1_Missense_Mutation_p.S768Y	p.S824Y			Q8TB72	PUM2_HUMAN			15	2493	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		824			PUM-HD.		B3KSL0|B4E2B6|D6W527|O00234|Q53TV7|Q8WY43|Q9HAN2	Missense_Mutation	SNP	ENST00000361078.2	37	c.2471C>A		.	.	.	.	.	.	.	.	.	.	G	29.3	4.990746	0.93106	.	.	ENSG00000055917	ENST00000338086;ENST00000361078;ENST00000319801;ENST00000440577;ENST00000403432;ENST00000536417	T;T;T;T;T;T	0.16196	2.4;2.36;2.43;2.4;2.4;2.4	5.77	5.77	0.91146	Armadillo-like helical (1);Armadillo-type fold (1);	0.062950	0.64402	D	0.000002	T	0.41190	0.1148	L	0.57536	1.79	0.80722	D	1	D;D;D;D	0.76494	0.997;0.998;0.994;0.999	D;D;P;D	0.68353	0.91;0.943;0.749;0.957	T	0.05582	-1.0876	10	0.72032	D	0.01	-3.9839	20.3626	0.98863	0.0:0.0:1.0:0.0	.	768;745;824;824	B4E2B6;B7ZL34;Q8TB72-3;Q8TB72	.;.;.;PUM2_HUMAN	Y	824;824;745;636;824;768	ENSP00000338173:S824Y;ENSP00000354370:S824Y;ENSP00000326746:S745Y;ENSP00000409905:S636Y;ENSP00000385992:S824Y;ENSP00000440093:S768Y	ENSP00000326746:S745Y	S	-	2	0	PUM2	20321498	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.792000	0.99085	2.885000	0.99019	0.655000	0.94253	TCT		0.328	PUM2-202	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015317		20	57	1	0	5.03518e-11	1	5.55427e-11	20	57					T	20458017	G	T	20458017	3	4	74	1	0	0	0	0	1	0	0	0	12826	942	33	5	747	5	PUM2	2	20458017	Missense_Mutation	SNP	G	TCGA-EJ-5530-01A-01D-1576-08		20458017	222741356	11	3851											
CNTNAP5	129684	broad.mit.edu	37	chr2	125521376	125521376	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttgcgttgctatggtgacCgtgagtacaaaatcgaaaga	12	10	11	8	3	0	3	0	2	0	1	1	4	0	3	2	1	3	3	2	1	5	4			TCGA-EJ-5530-01A-01D-1576-08	TCGA-EJ-5530-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058daa8b-f3ee-4992-b05e-91c13d9945ec	b153654d-dc6f-4409-afb3-30fd935ea8b5	g.chr2:125521376C>T	ENST00000431078.1	+	15	2723	c.2359C>T	c.(2359-2361)Cga>Tga	p.R787*		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	787	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)		p.R787*(2)		NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		CTATGGTGACCGTGAGTACAA	0.458																																						ENST00000431078.1																			2	Substitution - Nonsense(2)	p.R787*(2)	prostate(2)	NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176						c.e15+1		contactin associated protein-like 5							77	74	75					2																	125521376		1925	4128	6053	SO:0001630	splice_region_variant	129684				cell adhesion|signal transduction	integral to membrane	receptor binding	g.chr2:125521376C>T	AB077881	CCDS46401.1	2q14.1	2008-02-05			ENSG00000155052	ENSG00000155052			18748	protein-coding gene	gene with protein product		610519					Standard	NM_130773		Approved	caspr5, FLJ31966	uc002tno.3	Q8WYK1	OTTHUMG00000153356	ENST00000431078.1:c.2359+1C>T	2.37:g.125521376C>T							p.R787_splice	NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.248)	15	2723	+			787			Fibrinogen C-terminal.		Q4ZFW2|Q4ZG21|Q53R09|Q53RX1|Q53SG3|Q584P3|Q96MS7	Splice_Site	SNP	ENST00000431078.1	37	c.2359_splice	CCDS46401.1	.	.	.	.	.	.	.	.	.	.	C	43	10.478080	0.99412	.	.	ENSG00000155052	ENST00000431078	.	.	.	5.57	2.51	0.30379	.	0.000000	0.41938	D	0.000791	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.3034	0.60338	0.5999:0.4001:0.0:0.0	.	.	.	.	X	787	.	ENSP00000399013:R787X	R	+	1	2	CNTNAP5	125237846	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.036000	0.49767	0.780000	0.33566	0.655000	0.94253	CGA		0.458	CNTNAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330864.3		Nonsense_Mutation	11	56	0	0	0	1	0	11	56					T	125521376	C	T	125521376	5	4	74	1	0	0	0	0	0	0	1	0	3650	666	23	2	2417	2	CNTNAP5	2	125521376	Splice_Site	SNP	C	TCGA-EJ-5530-01A-01D-1576-08	105063359	125521376	117677997	12	3852											
TTN	7273	broad.mit.edu	37	chr2	179640233	179640233	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccagtagatccggtcagaccGttcaattttgacaccatttt	10	13	7	11	2	2	3	2	1	0	2	3	3	3	3	4	1	0	2	4	1	2	6	rs116158152		TCGA-EJ-5530-01A-01D-1576-08	TCGA-EJ-5530-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058daa8b-f3ee-4992-b05e-91c13d9945ec	b153654d-dc6f-4409-afb3-30fd935ea8b5	g.chr2:179640233G>A	ENST00000591111.1	-	28	6582	c.6358C>T	c.(6358-6360)Cgg>Tgg	p.R2120W	TTN_ENST00000342992.6_Missense_Mutation_p.R2120W|TTN_ENST00000359218.5_Missense_Mutation_p.R2074W|TTN-AS1_ENST00000610005.1_RNA|TTN-AS1_ENST00000584485.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.R2120W|TTN_ENST00000360870.5_Missense_Mutation_p.R2120W|TTN_ENST00000342175.6_Missense_Mutation_p.R2074W|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R2074W|RP11-88L24.4_ENST00000582038.2_RNA			Q8WZ42	TITIN_HUMAN	titin	12808	Ig-like 10.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.R2074W(7)|p.R2120W(5)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CGGTCAGACCGTTCAATTTTG	0.493													G|||	1	0.000199681	0	0	5008	,	,		20442	0		0.001	False		,,,				2504	0					ENST00000589042.1																			12	Substitution - Missense(12)	p.R2074W(7)|p.R2120W(5)	prostate(7)|large_intestine(5)	NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(6358-6360)Cgg>Tgg		titin							83	87	86					2																	179640233		2203	4300	6503	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179640233G>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.6358C>T	2.37:g.179640233G>A	ENSP00000465570:p.Arg2120Trp					TTN_ENST00000460472.2_Missense_Mutation_p.R2074W|TTN_ENST00000342175.6_Missense_Mutation_p.R2074W|TTN_ENST00000342992.6_Missense_Mutation_p.R2120W|TTN_ENST00000359218.5_Missense_Mutation_p.R2074W|TTN_ENST00000360870.5_Missense_Mutation_p.R2120W|TTN_ENST00000591111.1_Missense_Mutation_p.R2120W	p.R2120W	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		28	6582	-			1883			Ig-like 10.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.6358C>T		1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	4.249	0.045200	0.08196	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127;ENST00000360870	T;T;T;T;T	0.67865	-0.29;-0.29;-0.29;-0.29;-0.29	5.33	2.32	0.28847	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.77903	0.4200	L	0.52905	1.665	0.25501	N	0.987556	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.85130	0.983;0.983;0.983;0.977;0.997	T	0.70167	-0.4946	9	0.87932	D	0	.	14.6496	0.68786	0.0:0.0:0.3582:0.6418	.	2074;2074;2074;2120;2120	D3DPF9;E7EQE6;E7ET18;Q8WZ42;Q8WZ42-6	.;.;.;TITIN_HUMAN;.	W	2120;2074;2074;2074;2074;2120	ENSP00000343764:R2120W;ENSP00000434586:R2074W;ENSP00000340554:R2074W;ENSP00000352154:R2074W;ENSP00000354117:R2120W	ENSP00000340554:R2074W	R	-	1	2	TTN	179348478	0.997000	0.39634	0.142000	0.22268	0.509000	0.34042	2.730000	0.47335	0.579000	0.29504	-0.152000	0.13540	CGG		0.493	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		9	108	0	0	0	1	0	9	108					A	179640233	G	A	179640233	3	1	74	1	0	0	0	0	1	0	0	0	16732	1144	40	1	104970	1	TTN	2	179640233	Missense_Mutation	SNP	G	TCGA-EJ-5530-01A-01D-1576-08	54118857	179640233	63559140	13	3853											
NBEAL1	65065	broad.mit.edu	37	chr2	204039932	204039932	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcactatggtactcactattCaaattctgcgggggtcatgc	9	13	9	10	1	5	0	4	0	1	0	5	0	5	0	0	3	3	1	0	3	4	5			TCGA-EJ-5530-01A-01D-1576-08	TCGA-EJ-5530-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058daa8b-f3ee-4992-b05e-91c13d9945ec	b153654d-dc6f-4409-afb3-30fd935ea8b5	g.chr2:204039932C>G	ENST00000449802.1	+	41	6632	c.6299C>G	c.(6298-6300)tCa>tGa	p.S2100*		NM_001114132.1	NP_001107604.1	Q6ZS30	NBEL1_HUMAN	neurobeachin-like 1	2100	BEACH. {ECO:0000255|PROSITE- ProRule:PRU00026}.							p.S2100*(1)|p.S810*(1)		NS(1)|breast(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						ACTCACTATTCAAATTCTGCG	0.383																																						ENST00000449802.1																			2	Substitution - Nonsense(2)	p.S2100*(1)|p.S810*(1)	prostate(2)	NS(1)|breast(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						c.(6298-6300)tCa>tGa		neurobeachin-like 1							103	101	102					2																	204039932		1848	4082	5930	SO:0001587	stop_gained	65065						binding	g.chr2:204039932C>G	AY172970	CCDS46495.1	2q33	2013-01-10			ENSG00000144426	ENSG00000144426		"WD repeat domain containing"	20681	protein-coding gene	gene with protein product		609816	"amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 17", "amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 16"	ALS2CR17, ALS2CR16		15193433	Standard	NM_001114132		Approved	MGC164581	uc002uzt.3	Q6ZS30	OTTHUMG00000154129	ENST00000449802.1:c.6299C>G	2.37:g.204039932C>G	ENSP00000399903:p.Ser2100*						p.S2100*	NM_001114132.1	NP_001107604.1	Q6ZS30	NBEL1_HUMAN			41	6632	+			2100			BEACH.		A6NHD5|Q6Y876|Q6ZP36|Q6ZQY5|Q8N8R4|Q96Q30|Q96Q31	Nonsense_Mutation	SNP	ENST00000449802.1	37	c.6299C>G	CCDS46495.1	.	.	.	.	.	.	.	.	.	.	C	50	16.314626	0.99860	.	.	ENSG00000144426	ENST00000449802;ENST00000340268;ENST00000414576	.	.	.	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	19.922	0.97089	0.0:1.0:0.0:0.0	.	.	.	.	X	2100;2100;115	.	ENSP00000344985:S2100X	S	+	2	0	NBEAL1	203748177	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.776000	0.85560	2.794000	0.96219	0.650000	0.86243	TCA		0.383	NBEAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333982.4			7	168	0	0	0	1	0	7	168					G	204039932	C	G	204039932	4	3	74	1	0	0	0	0	0	1	0	0	10188	838	29	5	6457	5	NBEAL1	2	204039932	Nonsense_Mutation	SNP	C	TCGA-EJ-5530-01A-01D-1576-08	24399699	204039932	39159441	14	3854											
COL6A3	1293	broad.mit.edu	37	chr2	238277502	238277502	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggggcaccccgtcttctatgCgactccccgcagacttaaca	8	8	9	16	3	2	1	0	0	2	1	3	2	3	1	4	2	2	2	4	2	2	3	rs115765346		TCGA-EJ-5530-01A-01D-1576-08	TCGA-EJ-5530-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058daa8b-f3ee-4992-b05e-91c13d9945ec	b153654d-dc6f-4409-afb3-30fd935ea8b5	g.chr2:238277502C>T	ENST00000295550.4	-	10	5056	c.4604G>A	c.(4603-4605)cGc>cAc	p.R1535H	COL6A3_ENST00000347401.3_Missense_Mutation_p.R1334H|COL6A3_ENST00000346358.4_Missense_Mutation_p.R1335H|COL6A3_ENST00000409809.1_Missense_Mutation_p.R1329H|COL6A3_ENST00000353578.4_Missense_Mutation_p.R1329H|COL6A3_ENST00000472056.1_Missense_Mutation_p.R928H	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	1535	Nonhelical region.|VWFA 8. {ECO:0000255|PROSITE- ProRule:PRU00219}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|response to glucose (GO:0009749)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.R1535H(1)		breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		GTCTTCTATGCGACTCCCCGC	0.592													C|||	1	0.000199681	0	0	5008	,	,		17997	0.001		0	False		,,,				2504	0					ENST00000295550.4																			1	Substitution - Missense(1)	p.R1535H(1)	prostate(1)	breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217						c.(4603-4605)cGc>cAc		collagen, type VI, alpha 3							73	73	73					2																	238277502		2203	4300	6503	SO:0001583	missense	1293				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity	g.chr2:238277502C>T	X52022	CCDS33409.1, CCDS33410.1, CCDS33411.1, CCDS33412.1, CCDS33410.2, CCDS33411.2, CCDS54439.1	2q37	2014-09-17			ENSG00000163359	ENSG00000163359		"Collagens"	2213	protein-coding gene	gene with protein product		120250				1339440, 11992252	Standard	NM_004369		Approved		uc002vwl.2	P12111	OTTHUMG00000150020	ENST00000295550.4:c.4604G>A	2.37:g.238277502C>T	ENSP00000295550:p.Arg1535His					COL6A3_ENST00000346358.4_Missense_Mutation_p.R1335H|COL6A3_ENST00000409809.1_Missense_Mutation_p.R1329H|COL6A3_ENST00000347401.3_Missense_Mutation_p.R1334H|COL6A3_ENST00000353578.4_Missense_Mutation_p.R1329H|COL6A3_ENST00000472056.1_Missense_Mutation_p.R928H	p.R1535H	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)	10	5056	-		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)	1535			Nonhelical region.|VWFA 8.		A8MT30|B4E3U5|B7ZMJ7|E9PFQ6|E9PGQ9|Q16501|Q53QF4|Q53QF6	Missense_Mutation	SNP	ENST00000295550.4	37	c.4604G>A	CCDS33412.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	18.90	3.722331	0.68959	.	.	ENSG00000163359	ENST00000295550;ENST00000347401;ENST00000353578;ENST00000472056;ENST00000409809;ENST00000346358	D;D;D;D;D;D	0.88046	-2.33;-2.33;-2.33;-2.33;-2.33;-2.33	5.36	5.36	0.76844	von Willebrand factor, type A (3);	0.000000	0.53938	D	0.000056	D	0.96390	0.8822	H	0.98005	4.125	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;0.997	D	0.97905	1.0305	10	0.87932	D	0	.	19.1091	0.93310	0.0:1.0:0.0:0.0	.	928;1329;1535	E9PFQ6;P12111-2;P12111	.;.;CO6A3_HUMAN	H	1535;1334;1329;928;1329;1335	ENSP00000295550:R1535H;ENSP00000315609:R1334H;ENSP00000315873:R1329H;ENSP00000418285:R928H;ENSP00000386844:R1329H;ENSP00000295546:R1335H	ENSP00000295550:R1535H	R	-	2	0	COL6A3	237942241	1.000000	0.71417	0.999000	0.59377	0.574000	0.36063	7.755000	0.85180	2.512000	0.84698	0.655000	0.94253	CGC		0.592	COL6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315790.2	NM_004369		4	184	0	0	0	1	0	4	184					T	238277502	C	T	238277502	3	4	74	1	0	0	0	0	1	0	0	0	3701	768	27	1	5069	1	COL6A3	2	238277502	Missense_Mutation	SNP	C	TCGA-EJ-5530-01A-01D-1576-08	34237570	238277502	4921871	15	3855											
C2orf85	285093	broad.mit.edu	37	chr2	242814653	242814653	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctccctcaacaatggcctcGtccctgtggggaaacacacg	9	8	9	15	2	2	0	1	0	1	0	5	1	3	1	3	3	2	0	3	3	3	0			TCGA-EJ-5530-01A-01D-1576-08	TCGA-EJ-5530-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058daa8b-f3ee-4992-b05e-91c13d9945ec	b153654d-dc6f-4409-afb3-30fd935ea8b5	g.chr2:242814653G>A	ENST00000343216.3	+	2	974	c.946G>A	c.(946-948)Gtc>Atc	p.V316I		NM_173821.2	NP_776182.2												p.V316I(1)									CAATGGCCTCGTCCCTGTGGG	0.657																																						ENST00000343216.3																			1	Substitution - Missense(1)	p.V316I(1)	prostate(1)								c.(946-948)Gtc>Atc		CXXC finger protein 11							40	46	44					2																	242814653		1990	4145	6135	SO:0001583	missense	285093					integral to membrane		g.chr2:242814653G>A																												ENST00000343216.3:c.946G>A	2.37:g.242814653G>A	ENSP00000345374:p.Val316Ile						p.V316I	NM_173821.2	NP_776182.2	Q14D33	CB085_HUMAN			2	974	+			316						Missense_Mutation	SNP	ENST00000343216.3	37	c.946G>A	CCDS42843.1	.	.	.	.	.	.	.	.	.	.	.	7.154	0.584278	0.13749	.	.	ENSG00000188011	ENST00000343216	T	0.25414	1.8	2.1	-1.33	0.09172	.	.	.	.	.	T	0.08626	0.0214	N	0.14661	0.345	0.09310	N	1	P	0.39737	0.685	B	0.25140	0.058	T	0.21861	-1.0233	9	0.29301	T	0.29	.	2.8023	0.05418	0.3534:0.2489:0.3976:0.0	.	316	Q14D33	CB085_HUMAN	I	316	ENSP00000345374:V316I	ENSP00000345374:V316I	V	+	1	0	C2orf85	242463326	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.292000	0.08332	-0.369000	0.08028	0.456000	0.33151	GTC		0.657	CXXC11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322310.1			6	78	0	0	0	1	0	6	78					A	242814653	G	A	242814653	3	1	74	1	0	0	0	0	1	0	0	0	2200	1145	40	1	952	1	C2orf85	2	242814653	Missense_Mutation	SNP	G	TCGA-EJ-5530-01A-01D-1576-08	4537151	242814653	384720	16	3856											
IL17RC	84818	broad.mit.edu	37	chr3	9969889	9969889	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actccgttaggacgaacatcTgccccttcagggagggtgag	9	8	13	11	2	2	1	1	1	1	0	3	4	3	3	3	3	2	1	3	3	2	2			TCGA-EJ-5530-01A-01D-1576-08	TCGA-EJ-5530-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058daa8b-f3ee-4992-b05e-91c13d9945ec	b153654d-dc6f-4409-afb3-30fd935ea8b5	g.chr3:9969889T>A	ENST00000295981.3	+	10	1293	c.1075T>A	c.(1075-1077)Tgc>Agc	p.C359S	IL17RC_ENST00000403601.3_Missense_Mutation_p.C288S|IL17RC_ENST00000383812.4_Missense_Mutation_p.C273S|IL17RC_ENST00000416074.2_Missense_Mutation_p.C144S|IL17RC_ENST00000455057.1_Missense_Mutation_p.C273S|IL17RC_ENST00000413608.1_Missense_Mutation_p.C288S|IL17RC_ENST00000498214.1_3'UTR	NM_153461.3	NP_703191	Q8NAC3	I17RC_HUMAN	interleukin 17 receptor C	359					cytokine-mediated signaling pathway (GO:0019221)|positive regulation of cytokine production involved in inflammatory response (GO:1900017)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	interleukin-17 receptor activity (GO:0030368)	p.C359S(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						GACGAACATCTGCCCCTTCAG	0.637																																						ENST00000295981.3																			1	Substitution - Missense(1)	p.C359S(1)	prostate(1)	breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						c.(1075-1077)Tgc>Agc		interleukin 17 receptor C							103	100	101					3																	9969889		2203	4300	6503	SO:0001583	missense	84818					integral to membrane|plasma membrane	receptor activity	g.chr3:9969889T>A	BC006411	CCDS2590.1, CCDS2591.2, CCDS46746.1, CCDS56240.1, CCDS56241.1, CCDS74898.1	3p25.3	2008-02-05			ENSG00000163702	ENSG00000163702		"Interleukins and interleukin receptors"	18358	protein-coding gene	gene with protein product		610925				11706037	Standard	NM_153460		Approved	IL17-RL	uc003bua.3	Q8NAC3	OTTHUMG00000128648	ENST00000295981.3:c.1075T>A	3.37:g.9969889T>A	ENSP00000295981:p.Cys359Ser					IL17RC_ENST00000403601.3_Missense_Mutation_p.C288S|IL17RC_ENST00000413608.1_Missense_Mutation_p.C288S|IL17RC_ENST00000455057.1_Missense_Mutation_p.C273S|IL17RC_ENST00000416074.2_Missense_Mutation_p.C144S|IL17RC_ENST00000383812.4_Missense_Mutation_p.C273S|IL17RC_ENST00000498214.1_3'UTR	p.C359S	NM_153461.3	NP_703191.1	Q8NAC3	I17RC_HUMAN			10	1293	+			359					E9PHG1|E9PHJ6|Q6UVY3|Q6UWD4|Q8NFS1|Q9BR97	Missense_Mutation	SNP	ENST00000295981.3	37	c.1075T>A	CCDS2590.1	.	.	.	.	.	.	.	.	.	.	T	15.46	2.841329	0.51057	.	.	ENSG00000163702	ENST00000383812;ENST00000438091;ENST00000295981;ENST00000436503;ENST00000403601;ENST00000416074;ENST00000455057;ENST00000413608	T;T;T;T;T;T;T;T	0.43688	0.94;0.94;0.94;0.94;0.94;0.94;0.94;0.94	5.5	4.31	0.51392	.	0.128230	0.52532	D	0.000078	T	0.60287	0.2257	M	0.70275	2.135	0.34404	D	0.695652	D;D;D;D;D;D;D;D;D	0.76494	0.998;0.998;0.997;0.997;0.999;0.999;0.998;0.979;0.999	D;D;D;D;D;D;D;P;D	0.76575	0.943;0.969;0.915;0.915;0.94;0.94;0.961;0.747;0.988	T	0.72083	-0.4397	10	0.87932	D	0	-18.1608	9.6797	0.40063	0.0:0.0:0.175:0.825	.	273;144;273;288;288;288;273;359;288	Q8NAC3-4;F5H4Z2;E9PHG1;A8BWD5;E9PHJ6;A8BWC9;Q8NAC3-3;Q8NAC3;Q8NAC3-2	.;.;.;.;.;.;.;I17RC_HUMAN;.	S	273;248;359;263;288;144;273;288	ENSP00000373323:C273S;ENSP00000414609:C248S;ENSP00000295981:C359S;ENSP00000401128:C263S;ENSP00000384969:C288S;ENSP00000395315:C144S;ENSP00000407894:C273S;ENSP00000396064:C288S	ENSP00000295981:C359S	C	+	1	0	IL17RC	9944889	0.996000	0.38824	0.738000	0.30950	0.440000	0.31957	3.797000	0.55514	0.986000	0.38683	0.374000	0.22700	TGC		0.637	IL17RC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250526.2	NM_032732		12	166	0	0	0	1	0	12	166					A	9969889	T	A	9969889	3	1	74	1	0	0	0	0	1	0	0	0	7641	1580	55	5	1113	5	IL17RC	3	9969889	Missense_Mutation	SNP	T	TCGA-EJ-5530-01A-01D-1576-08		9969889	188052541	17	3857											
C3orf19	51244	broad.mit.edu	37	chr3	14703060	14703060	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aagaagtagaggatatgtacCttgtggatttcacacagaag	15	10	11	5	0	1	3	1	0	0	3	1	5	1	5	1	2	1	2	1	2	6	5			TCGA-EJ-5530-01A-01D-1576-08	TCGA-EJ-5530-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058daa8b-f3ee-4992-b05e-91c13d9945ec	b153654d-dc6f-4409-afb3-30fd935ea8b5	g.chr3:14703060C>T	ENST00000383794.3	+	5	404	c.331C>T	c.(331-333)Ctt>Ttt	p.L111F	CCDC174_ENST00000303688.7_Missense_Mutation_p.L111F	NM_016474.4	NP_057558.3	Q6PII3	CC174_HUMAN	coiled-coil domain containing 174	111						cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.L111F(1)									GGATATGTACCTTGTGGATTT	0.408																																						ENST00000383794.3																			1	Substitution - Missense(1)	p.L111F(1)	prostate(1)								c.(331-333)Ctt>Ttt		coiled-coil domain containing 174							138	134	135					3																	14703060		2203	4300	6503	SO:0001583	missense	51244							g.chr3:14703060C>T	AF151046	CCDS2620.2	3p25.1	2012-09-20	2012-09-20	2012-09-20	ENSG00000154781	ENSG00000154781			28033	protein-coding gene	gene with protein product			"chromosome 3 open reading frame 19"	C3orf19		11042152	Standard	NM_016474		Approved	FLJ33839	uc003byw.3	Q6PII3	OTTHUMG00000129837	ENST00000383794.3:c.331C>T	3.37:g.14703060C>T	ENSP00000373304:p.Leu111Phe					CCDC174_ENST00000303688.7_Missense_Mutation_p.L111F	p.L111F	NM_016474.4	NP_057558.3					5	404	+								Q96CS5	Missense_Mutation	SNP	ENST00000383794.3	37	c.331C>T	CCDS2620.2	.	.	.	.	.	.	.	.	.	.	C	22.7	4.326458	0.81690	.	.	ENSG00000154781	ENST00000383794;ENST00000303688;ENST00000285042	T;T	0.59364	0.27;0.36	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	T	0.81403	0.4815	M	0.89601	3.045	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.84520	0.0627	10	0.66056	D	0.02	-26.9933	18.5057	0.90896	0.0:1.0:0.0:0.0	.	111	Q6PII3	CC019_HUMAN	F	111;111;16	ENSP00000373304:L111F;ENSP00000302344:L111F	ENSP00000285042:L16F	L	+	1	0	C3orf19	14678064	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	4.243000	0.58721	2.660000	0.90430	0.467000	0.42956	CTT		0.408	CCDC174-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252077.2	NM_016474		5	180	0	0	0	1	0	5	180					T	14703060	C	T	14703060	3	4	74	1	0	0	0	0	1	0	0	0	2212	681	24	3	349	3	C3orf19	3	14703060	Missense_Mutation	SNP	C	TCGA-EJ-5530-01A-01D-1576-08	4733171	14703060	183319370	18	3858											
MORC1	27136	broad.mit.edu	37	chr3	108818255	108818255	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgagaaaaaaacacacaggTcatcgtttcttccttcttcg	12	12	6	11	2	3	1	1	1	2	1	6	2	4	1	1	1	1	1	1	1	3	4			TCGA-EJ-5530-01A-01D-1576-08	TCGA-EJ-5530-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058daa8b-f3ee-4992-b05e-91c13d9945ec	b153654d-dc6f-4409-afb3-30fd935ea8b5	g.chr3:108818255T>C	ENST00000483760.1	-	6	416	c.373A>G	c.(373-375)Acc>Gcc	p.T125A	MORC1-AS1_ENST00000480826.1_RNA|MORC1_ENST00000232603.5_Missense_Mutation_p.T125A					MORC family CW-type zinc finger 1									p.T125A(1)		breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						AACACACAGGTCATCGTTTCT	0.343																																						ENST00000232603.5																			1	Substitution - Missense(1)	p.T125A(1)	prostate(1)	breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						c.(373-375)Acc>Gcc		MORC family CW-type zinc finger 1							126	126	126					3																	108818255		2201	4299	6500	SO:0001583	missense	27136				cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding	g.chr3:108818255T>C	AF084946	CCDS2955.1	3q13	2011-10-26	2005-06-15	2005-06-15	ENSG00000114487	ENSG00000114487			7198	protein-coding gene	gene with protein product	"cancer/testis antigen 33"	603205	"microrchidia (mouse) homolog", "microrchidia homolog (mouse)"	MORC		10369865	Standard	NM_014429		Approved	ZCW6, CT33	uc003dxl.3	Q86VD1	OTTHUMG00000159209	ENST00000483760.1:c.373A>G	3.37:g.108818255T>C	ENSP00000417282:p.Thr125Ala					MORC1_ENST00000483760.1_Missense_Mutation_p.T125A	p.T125A	NM_014429.3	NP_055244.3	Q86VD1	MORC1_HUMAN			6	455	-			125						Missense_Mutation	SNP	ENST00000483760.1	37	c.373A>G		.	.	.	.	.	.	.	.	.	.	T	18.47	3.630087	0.67015	.	.	ENSG00000114487	ENST00000232603;ENST00000483760	D;D	0.95103	-3.61;-3.61	4.78	4.78	0.61160	ATPase-like, ATP-binding domain (2);	0.000000	0.50627	D	0.000108	D	0.95875	0.8657	M	0.70595	2.14	0.45852	D	0.99871	P;P	0.45715	0.865;0.831	P;P	0.57244	0.681;0.816	D	0.95411	0.8498	10	0.46703	T	0.11	-12.9608	12.5723	0.56344	0.0:0.0:0.0:1.0	.	125;125	E7ERX1;Q86VD1	.;MORC1_HUMAN	A	125	ENSP00000232603:T125A;ENSP00000417282:T125A	ENSP00000232603:T125A	T	-	1	0	MORC1	110300945	1.000000	0.71417	1.000000	0.80357	0.800000	0.45204	6.801000	0.75170	2.135000	0.66039	0.454000	0.30748	ACC		0.343	MORC1-002	NOVEL	basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000353844.1			12	115	0	0	0	1	0	12	115					C	108818255	T	C	108818255	3	2	74	1	0	0	0	0	1	0	0	0	9701	1667	58	4	2673	4	MORC1	3	108818255	Missense_Mutation	SNP	T	TCGA-EJ-5530-01A-01D-1576-08	94115195	108818255	89204175	19	3859											
C3orf59	151963	broad.mit.edu	37	chr3	192517393	192517393	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	acacctccagagagcaacagGtattcattagccactggaag	14	7	9	11	0	1	1	1	0	0	1	2	3	2	2	3	2	3	2	3	2	4	3			TCGA-EJ-5530-01A-01D-1576-08	TCGA-EJ-5530-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058daa8b-f3ee-4992-b05e-91c13d9945ec	b153654d-dc6f-4409-afb3-30fd935ea8b5	g.chr3:192517393G>T	ENST00000392452.2	-	2	578	c.258C>A	c.(256-258)taC>taA	p.Y86*		NM_178496.3	NP_848591.2	Q8IYB1	M21D2_HUMAN	Mab-21 domain containing 2	86							protein complex binding (GO:0032403)	p.Y84*(1)|p.Y86*(1)		endometrium(3)|kidney(1)|large_intestine(4)|lung(17)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	31						AGAGCAACAGGTATTCATTAG	0.453																																						ENST00000392452.2																			2	Substitution - Nonsense(2)	p.Y84*(1)|p.Y86*(1)	prostate(2)	endometrium(3)|kidney(1)|large_intestine(4)|lung(17)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	31						c.(256-258)taC>taA		Mab-21 domain containing 2							45	42	43					3																	192517393		2203	4300	6503	SO:0001587	stop_gained	151963							g.chr3:192517393G>T	AK056276	CCDS3302.2	3q28-q29	2011-02-23	2011-02-23	2011-02-23	ENSG00000180611	ENSG00000180611			30438	protein-coding gene	gene with protein product			"chromosome 3 open reading frame 59"	C3orf59		12477932	Standard	NM_178496		Approved		uc011bsp.2	Q8IYB1	OTTHUMG00000155768	ENST00000392452.2:c.258C>A	3.37:g.192517393G>T	ENSP00000376246:p.Tyr86*						p.Y86*	NM_178496.3	NP_848591.2	Q8IYB1	M21D2_HUMAN			2	578	-			86					Q86VD8	Nonsense_Mutation	SNP	ENST00000392452.2	37	c.258C>A	CCDS3302.2	.	.	.	.	.	.	.	.	.	.	G	38	6.742174	0.97805	.	.	ENSG00000180611	ENST00000392452	.	.	.	5.94	3.17	0.36434	.	0.123857	0.56097	D	0.000028	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	8.0435	0.30536	0.3092:0.0:0.6908:0.0	.	.	.	.	X	86	.	ENSP00000376246:Y86X	Y	-	3	2	MB21D2	194000087	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	2.012000	0.40932	0.836000	0.34901	0.650000	0.86243	TAC		0.453	MB21D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341543.1	NM_178496		9	59	1	0	0.0692343	1	0.0712315	9	59					T	192517393	G	T	192517393	4	4	74	1	0	0	0	0	0	1	0	0	2237	1256	44	5	1221	5	C3orf59	3	192517393	Nonsense_Mutation	SNP	G	TCGA-EJ-5530-01A-01D-1576-08	83699138	192517393	5505037	20	3860											
GRID2	2895	broad.mit.edu	37	chr4	94436522	94436522	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gatcaaccgaagcaatggatCggagaacaatgttctggagt	14	8	12	7	2	2	1	1	0	1	1	3	6	2	3	1	3	3	2	1	3	5	1			TCGA-EJ-5530-01A-01D-1576-08	TCGA-EJ-5530-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058daa8b-f3ee-4992-b05e-91c13d9945ec	b153654d-dc6f-4409-afb3-30fd935ea8b5	g.chr4:94436522C>T	ENST00000282020.4	+	13	2411	c.2153C>T	c.(2152-2154)tCg>tTg	p.S718L	GRID2_ENST00000510992.1_Missense_Mutation_p.S623L	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	718					cellular protein localization (GO:0034613)|cerebellar granule cell differentiation (GO:0021707)|glutamate receptor signaling pathway (GO:0007215)|heterophilic cell-cell adhesion (GO:0007157)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|prepulse inhibition (GO:0060134)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of neuron apoptotic process (GO:0043523)|regulation of neuron projection development (GO:0010975)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|ionotropic glutamate receptor complex (GO:0008328)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|ionotropic glutamate receptor activity (GO:0004970)|PDZ domain binding (GO:0030165)|scaffold protein binding (GO:0097110)	p.S718L(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)		AGCAATGGATCGGAGAACAAT	0.468																																						ENST00000282020.4																			1	Substitution - Missense(1)	p.S718L(1)	prostate(1)	NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100						c.(2152-2154)tCg>tTg		glutamate receptor, ionotropic, delta 2	L-Glutamic Acid(DB00142)						132	113	119					4																	94436522		2203	4300	6503	SO:0001583	missense	2895				glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity	g.chr4:94436522C>T	AF009014	CCDS3637.1, CCDS68758.1	4q22	2012-08-29			ENSG00000152208	ENSG00000152208		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4576	protein-coding gene	gene with protein product		602368				9465309	Standard	NM_001510		Approved	GluD2, GluR-delta-2	uc011cdt.2	O43424	OTTHUMG00000130975	ENST00000282020.4:c.2153C>T	4.37:g.94436522C>T	ENSP00000282020:p.Ser718Leu					GRID2_ENST00000510992.1_Missense_Mutation_p.S623L	p.S718L	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	13	2411	+		Hepatocellular(203;0.114)|all_hematologic(202;0.177)	718					E9PH24|Q4KKU8|Q4KKU9|Q4KKV0|Q59FZ1	Missense_Mutation	SNP	ENST00000282020.4	37	c.2153C>T	CCDS3637.1	.	.	.	.	.	.	.	.	.	.	C	13.02	2.111066	0.37242	.	.	ENSG00000152208	ENST00000282020;ENST00000510992	T;T	0.12039	2.72;2.72	5.07	5.07	0.68467	Extracellular solute-binding protein, family 3 (1);Ionotropic glutamate receptor (2);	0.205916	0.41194	D	0.000924	T	0.11879	0.0289	L	0.31157	0.91	0.39807	D	0.972655	B;B	0.32693	0.38;0.38	B;B	0.20955	0.032;0.032	T	0.08371	-1.0725	10	0.72032	D	0.01	.	18.8016	0.92021	0.0:1.0:0.0:0.0	.	623;718	E9PH24;O43424	.;GRID2_HUMAN	L	718;623	ENSP00000282020:S718L;ENSP00000421257:S623L	ENSP00000282020:S718L	S	+	2	0	GRID2	94655545	0.994000	0.37717	0.594000	0.28785	0.486000	0.33341	3.727000	0.54984	2.523000	0.85059	0.585000	0.79938	TCG		0.468	GRID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253588.2			4	122	0	0	0	1	0	4	122					T	94436522	C	T	94436522	3	4	74	1	0	0	0	0	1	0	0	0	6772	893	31	2	2203	2	GRID2	4	94436522	Missense_Mutation	SNP	C	TCGA-EJ-5530-01A-01D-1576-08		94436522	96717754	21	3861											
DKK2	27123	broad.mit.edu	37	chr4	107845202	107845202	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggcccttcgcacagtcgcaaCgctggaaaatttccagccca	10	7	9	15	3	0	0	0	0	0	0	3	1	1	1	3	2	2	3	3	2	3	2	rs539488952		TCGA-EJ-5530-01A-01D-1576-08	TCGA-EJ-5530-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058daa8b-f3ee-4992-b05e-91c13d9945ec	b153654d-dc6f-4409-afb3-30fd935ea8b5	g.chr4:107845202C>T	ENST00000285311.3	-	4	1394	c.689G>A	c.(688-690)cGt>cAt	p.R230H	DKK2_ENST00000513208.1_Missense_Mutation_p.R130H|DKK2_ENST00000510463.1_Missense_Mutation_p.R184H	NM_014421.2	NP_055236.1	Q9UBU2	DKK2_HUMAN	dickkopf WNT signaling pathway inhibitor 2	230	DKK-type Cys-2.				multicellular organismal development (GO:0007275)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|Wnt signaling pathway (GO:0016055)	extracellular space (GO:0005615)		p.R230H(3)		autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	32		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;6.34e-06)		ACAGTCGCAACGCTGGAAAAT	0.488													C|||	1	0.000199681	0	0	5008	,	,		18840	0.001		0	False		,,,				2504	0					ENST00000285311.3																			3	Substitution - Missense(3)	p.R230H(3)	large_intestine(2)|prostate(1)	autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	32						c.(688-690)cGt>cAt		dickkopf WNT signaling pathway inhibitor 2							161	147	152					4																	107845202		2203	4300	6503	SO:0001583	missense	27123				multicellular organismal development|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	extracellular space		g.chr4:107845202C>T	AB033208	CCDS3675.1	4q25	2013-05-15	2013-05-15		ENSG00000155011	ENSG00000155011			2892	protein-coding gene	gene with protein product		605415	"dickkopf (Xenopus laevis) homolog 2", "dickkopf 2 homolog (Xenopus laevis)"			10570958	Standard	NM_014421		Approved		uc003hyi.3	Q9UBU2	OTTHUMG00000131216	ENST00000285311.3:c.689G>A	4.37:g.107845202C>T	ENSP00000285311:p.Arg230His					DKK2_ENST00000513208.1_Missense_Mutation_p.R130H|DKK2_ENST00000510463.1_Missense_Mutation_p.R184H	p.R230H	NM_014421.2	NP_055236.1	Q9UBU2	DKK2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;6.34e-06)	4	1394	-		Hepatocellular(203;0.217)	230			DKK-type Cys-2.		A0AVE9|B2R6S7|Q9UIU3	Missense_Mutation	SNP	ENST00000285311.3	37	c.689G>A	CCDS3675.1	.	.	.	.	.	.	.	.	.	.	C	28.2	4.897895	0.91962	.	.	ENSG00000155011	ENST00000285311;ENST00000513208;ENST00000510463	T;T;T	0.57595	0.39;0.52;0.54	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	T	0.75361	0.3839	M	0.81341	2.54	0.80722	D	1	D	0.76494	0.999	D	0.73380	0.98	T	0.77051	-0.2731	10	0.59425	D	0.04	-11.8314	19.6876	0.95986	0.0:1.0:0.0:0.0	.	230	Q9UBU2	DKK2_HUMAN	H	230;130;184	ENSP00000285311:R230H;ENSP00000421255:R130H;ENSP00000423797:R184H	ENSP00000285311:R230H	R	-	2	0	DKK2	108064651	1.000000	0.71417	1.000000	0.80357	0.692000	0.40212	7.487000	0.81328	2.657000	0.90304	0.585000	0.79938	CGT		0.488	DKK2-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253959.4			26	270	0	0	0	1	0	26	270					T	107845202	C	T	107845202	3	4	74	1	0	0	0	0	1	0	0	0	4545	536	19	1	94	1	DKK2	4	107845202	Missense_Mutation	SNP	C	TCGA-EJ-5530-01A-01D-1576-08	13408680	107845202	83309074	22	3862											
CDH18	1016	broad.mit.edu	37	chr5	19503127	19503127	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgtccttcagagtgaagtttGgatttacaggcaggcgttca	9	13	12	7	1	2	2	2	1	0	1	3	3	3	3	1	3	1	3	1	3	2	5			TCGA-EJ-5530-01A-01D-1576-08	TCGA-EJ-5530-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058daa8b-f3ee-4992-b05e-91c13d9945ec	b153654d-dc6f-4409-afb3-30fd935ea8b5	g.chr5:19503127G>A	ENST00000507958.1	-	13	2594	c.1604C>T	c.(1603-1605)cCa>cTa	p.P535L	CDH18_ENST00000511273.1_Missense_Mutation_p.P535L|CDH18_ENST00000382275.1_Missense_Mutation_p.P535L|CDH18_ENST00000502796.1_Missense_Mutation_p.P535L|CDH18_ENST00000274170.4_Missense_Mutation_p.P535L|CDH18_ENST00000506372.1_Missense_Mutation_p.P535L			Q13634	CAD18_HUMAN	cadherin 18, type 2	535	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.P535L(2)		breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138	Lung NSC(1;0.00734)|all_lung(1;0.0197)					AGTGAAGTTTGGATTTACAGG	0.348																																						ENST00000507958.1																			2	Substitution - Missense(2)	p.P535L(2)	prostate(2)	breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138						c.(1603-1605)cCa>cTa		cadherin 18, type 2							117	109	112					5																	19503127		2203	4300	6503	SO:0001583	missense	1016				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:19503127G>A	U59325	CCDS3889.1, CCDS54835.1, CCDS75229.1	5p14.3	2010-01-26			ENSG00000145526	ENSG00000145526		"Cadherins / Major cadherins"	1757	protein-coding gene	gene with protein product		603019				9030594, 10191097	Standard	NM_004934		Approved	CDH14, EY-CADHERIN	uc003jgd.3	Q13634	OTTHUMG00000090578	ENST00000507958.1:c.1604C>T	5.37:g.19503127G>A	ENSP00000425093:p.Pro535Leu					CDH18_ENST00000506372.1_Missense_Mutation_p.P535L|CDH18_ENST00000511273.1_Missense_Mutation_p.P535L|CDH18_ENST00000382275.1_Missense_Mutation_p.P535L|CDH18_ENST00000502796.1_Missense_Mutation_p.P535L|CDH18_ENST00000274170.4_Missense_Mutation_p.P535L	p.P535L			Q13634	CAD18_HUMAN			13	2594	-	Lung NSC(1;0.00734)|all_lung(1;0.0197)		535			Cadherin 5.		A8K0I2|B4DHG6|Q8N5Z2	Missense_Mutation	SNP	ENST00000507958.1	37	c.1604C>T	CCDS3889.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.123153	0.77436	.	.	ENSG00000145526	ENST00000382275;ENST00000507958;ENST00000542864;ENST00000274170;ENST00000506372;ENST00000502796;ENST00000511273	T;T;T;T;T;T	0.51325	0.71;0.71;0.71;2.08;2.08;2.08	5.18	5.18	0.71444	Cadherin (4);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.56124	0.1964	L	0.39020	1.185	0.80722	D	1	D;B	0.67145	0.996;0.055	P;B	0.61070	0.883;0.075	T	0.51442	-0.8705	9	.	.	.	.	17.6105	0.88051	0.0:0.0:1.0:0.0	.	535;535	B4DHG6;Q13634	.;CAD18_HUMAN	L	535	ENSP00000371710:P535L;ENSP00000425093:P535L;ENSP00000274170:P535L;ENSP00000424931:P535L;ENSP00000422138:P535L;ENSP00000425854:P535L	.	P	-	2	0	CDH18	19538884	1.000000	0.71417	1.000000	0.80357	0.815000	0.46073	8.347000	0.90062	2.573000	0.86826	0.650000	0.86243	CCA		0.348	CDH18-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366747.1	NM_004934		13	121	0	0	0	1	0	13	121					A	19503127	G	A	19503127	3	1	74	1	0	0	0	0	1	0	0	0	3103	1348	47	3	780	3	CDH18	5	19503127	Missense_Mutation	SNP	G	TCGA-EJ-5530-01A-01D-1576-08		19503127	161412133	23	3863											
HSPB3	8988	broad.mit.edu	37	chr5	53752034	53752034	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcctctgtcatgatggaattTtggtggtggaagtaaaggat	10	14	13	4	0	2	1	1	1	1	0	3	4	3	4	1	5	0	1	1	5	4	3			TCGA-EJ-5530-01A-01D-1576-08	TCGA-EJ-5530-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058daa8b-f3ee-4992-b05e-91c13d9945ec	b153654d-dc6f-4409-afb3-30fd935ea8b5	g.chr5:53752034T>C	ENST00000302005.1	+	1	590	c.415T>C	c.(415-417)Ttg>Ctg	p.L139L		NM_006308.2	NP_006299.1	Q12988	HSPB3_HUMAN	heat shock 27kDa protein 3	139					cell death (GO:0008219)|response to unfolded protein (GO:0006986)	cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.L139L(2)		breast(1)|large_intestine(4)|prostate(3)	8		Lung NSC(810;0.00104)				TGATGGAATTTTGGTGGTGGA	0.458																																						ENST00000302005.1																			2	Substitution - coding silent(2)	p.L139L(2)	prostate(2)	breast(1)|large_intestine(4)|prostate(3)	8						c.(415-417)Ttg>Ctg		heat shock 27kDa protein 3							120	114	116					5																	53752034		2203	4300	6503	SO:0001819	synonymous_variant	8988				cell death|response to heat|response to unfolded protein	cytoplasm|nucleus		g.chr5:53752034T>C	Y17782	CCDS3961.1	5q11.2	2011-09-02	2002-08-29		ENSG00000169271	ENSG00000169271		"Heat shock proteins / HSPB"	5248	protein-coding gene	gene with protein product		604624	"heat shock 27kD protein 3"			8972725, 9858786	Standard	NM_006308		Approved	HSPL27	uc003jph.2	Q12988	OTTHUMG00000096995	ENST00000302005.1:c.415T>C	5.37:g.53752034T>C							p.L139L	NM_006308.2	NP_006299.1	Q12988	HSPB3_HUMAN			1	590	+		Lung NSC(810;0.00104)	139						Silent	SNP	ENST00000302005.1	37	c.415T>C	CCDS3961.1																																																																																				0.458	HSPB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214074.2			5	204	0	0	0	1	0	5	204					C	53752034	T	C	53752034	2	2	74	1	0	0	0	0	0	0	0	1	7421	1838	64	4		4	HSPB3	5	53752034	Silent	SNP	T	TCGA-EJ-5530-01A-01D-1576-08	34248907	53752034	127163226	24	3864											
ANKRD55	79722	broad.mit.edu	37	chr5	55472069	55472069	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aacagcagcttcactgtgtcCgcttgacgtccagaaaccgc	10	8	9	14	3	1	2	1	1	0	1	3	2	3	2	3	0	4	3	3	0	2	2			TCGA-EJ-5530-01A-01D-1576-08	TCGA-EJ-5530-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058daa8b-f3ee-4992-b05e-91c13d9945ec	b153654d-dc6f-4409-afb3-30fd935ea8b5	g.chr5:55472069C>T	ENST00000341048.4	-	4	373	c.222G>A	c.(220-222)gcG>gcA	p.A74A	ANKRD55_ENST00000513241.2_Silent_p.A45A|ANKRD55_ENST00000504958.2_Silent_p.A74A	NM_024669.2	NP_078945.2	Q3KP44	ANR55_HUMAN	ankyrin repeat domain 55	74								p.A74A(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(1)	34		Lung NSC(810;8.69e-05)|Prostate(74;0.00634)|Breast(144;0.0334)|Ovarian(174;0.223)				TCACTGTGTCCGCTTGACGTC	0.493																																						ENST00000341048.4																			1	Substitution - coding silent(1)	p.A74A(1)	prostate(1)	breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(1)	34						c.(220-222)gcG>gcA		ankyrin repeat domain 55							175	148	157					5																	55472069		2203	4300	6503	SO:0001819	synonymous_variant	79722							g.chr5:55472069C>T	AK021857	CCDS34161.1	5q11.2	2013-01-10			ENSG00000164512	ENSG00000164512		"Ankyrin repeat domain containing"	25681	protein-coding gene	gene with protein product		615189					Standard	XM_005248599		Approved	FLJ11795	uc003jqu.3	Q3KP44	OTTHUMG00000162305	ENST00000341048.4:c.222G>A	5.37:g.55472069C>T						ANKRD55_ENST00000513241.2_Silent_p.A45A|ANKRD55_ENST00000504958.2_Silent_p.A74A	p.A74A	NM_024669.2	NP_078945.2	Q3KP44	ANR55_HUMAN			4	373	-		Lung NSC(810;8.69e-05)|Prostate(74;0.00634)|Breast(144;0.0334)|Ovarian(174;0.223)	73					B3KVT8|Q3KP45|Q9HAD3	Silent	SNP	ENST00000341048.4	37	c.222G>A	CCDS34161.1																																																																																				0.493	ANKRD55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368510.4	NM_024669		5	206	0	0	0	1	0	5	206					T	55472069	C	T	55472069	2	4	74	1	0	0	0	0	0	0	0	1	681	639	23	2		2	ANKRD55	5	55472069	Silent	SNP	C	TCGA-EJ-5530-01A-01D-1576-08	1720035	55472069	125443191	25	3865											
PCDHA11	56138	broad.mit.edu	37	chr5	140250899	140250899	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgcgcgccggggaagcccacGctggtgtgctcccgcgcggt	3	6	17	15	7	0	0	0	0	0	0	1	1	1	1	3	4	3	2	3	4	1	0	rs199741530		TCGA-EJ-5530-01A-01D-1576-08	TCGA-EJ-5530-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058daa8b-f3ee-4992-b05e-91c13d9945ec	b153654d-dc6f-4409-afb3-30fd935ea8b5	g.chr5:140250899G>A	ENST00000398640.2	+	1	2211	c.2211G>A	c.(2209-2211)acG>acA	p.T737T	PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA7_ENST00000525929.1_Intron	NM_018902.3	NP_061725.1	Q9Y5I1	PCDAB_HUMAN	protocadherin alpha 11	737	6 X 4 AA repeats of P-X-X-P.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.T737T(1)		breast(1)|lung(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGAAGCCCACGCTGGTGTGCT	0.687													.|||	1	0.000199681	0	0	5008	,	,		14445	0.001		0	False		,,,				2504	0					ENST00000398640.2																			1	Substitution - coding silent(1)	p.T737T(1)	prostate(1)	breast(1)|lung(1)	2						c.(2209-2211)acG>acA									31	33	32					5																	140250899		2203	4300	6503	SO:0001819	synonymous_variant	0							g.chr5:140250899G>A	AF152476	CCDS47284.1, CCDS75326.1	5q31	2010-11-26			ENSG00000249158	ENSG00000249158		"Cadherins / Protocadherins : Clustered"	8665	other	complex locus constituent	"KIAA0345-like 3", "ortholog of mouse CNR7"	606317		CNRS7		10380929, 10662547	Standard	NM_018902		Approved	CNR7, CRNR7, CNRN7, PCDH-ALPHA11		Q9Y5I1	OTTHUMG00000163369	ENST00000398640.2:c.2211G>A	5.37:g.140250899G>A						PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA8_ENST00000531613.1_Intron	p.T737T	NM_018902.3	NP_061725.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2211	+								B2RN58|O75279	Silent	SNP	ENST00000398640.2	37	c.2211G>A	CCDS47284.1																																																																																				0.687	PCDHA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372885.2	NM_018902		4	29	0	0	0	1	0	4	29					A	140250899	G	A	140250899	2	1	74	1	0	0	0	0	0	0	0	1	11521	1074	38	1		1	PCDHA11	5	140250899	Silent	SNP	G	TCGA-EJ-5530-01A-01D-1576-08	84778830	140250899	40664361	26	3866											
PCDHB12	56124	broad.mit.edu	37	chr5	140588556	140588556	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttgctgggaatgtctcaggCgggctctgaaactgggaact	8	11	14	8	1	2	1	1	1	2	0	3	3	2	3	0	4	3	2	0	4	3	1			TCGA-EJ-5530-01A-01D-1576-08	TCGA-EJ-5530-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058daa8b-f3ee-4992-b05e-91c13d9945ec	b153654d-dc6f-4409-afb3-30fd935ea8b5	g.chr5:140588556C>T	ENST00000239450.2	+	1	266	c.77C>T	c.(76-78)gCg>gTg	p.A26V	PCDHB12_ENST00000541609.1_Intron	NM_018932.3	NP_061755.1	Q9Y5F1	PCDBC_HUMAN	protocadherin beta 12	26					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.A26V(2)		NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ATGTCTCAGGCGGGCTCTGAA	0.498																																						ENST00000239450.2																			2	Substitution - Missense(2)	p.A26V(2)	prostate(1)|endometrium(1)	NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1)	83						c.(76-78)gCg>gTg									101	105	103					5																	140588556		2203	4300	6503	SO:0001583	missense	0				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	g.chr5:140588556C>T	AF152491	CCDS4254.1	5q31	2010-01-26			ENSG00000120328	ENSG00000120328		"Cadherins / Protocadherins : Clustered"	8683	other	protocadherin		606338				10380929	Standard	NM_018932		Approved	PCDH-BETA12	uc003liz.3	Q9Y5F1	OTTHUMG00000129620	ENST00000239450.2:c.77C>T	5.37:g.140588556C>T	ENSP00000239450:p.Ala26Val					PCDHB12_ENST00000541609.1_Intron	p.A26V	NM_018932.3	NP_061755.1	Q9Y5F1	PCDBC_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	266	+			26					B4DDU1	Missense_Mutation	SNP	ENST00000239450.2	37	c.77C>T	CCDS4254.1	.	.	.	.	.	.	.	.	.	.	C	0.118	-1.129551	0.01756	.	.	ENSG00000120328	ENST00000239450	T	0.50277	0.75	4.15	-0.23	0.13090	.	.	.	.	.	T	0.29458	0.0734	L	0.43152	1.355	0.09310	N	1	P	0.36633	0.562	B	0.27608	0.081	T	0.10823	-1.0613	9	0.30078	T	0.28	.	4.5049	0.11883	0.0:0.394:0.3041:0.3019	.	26	Q9Y5F1	PCDBC_HUMAN	V	26	ENSP00000239450:A26V	ENSP00000239450:A26V	A	+	2	0	PCDHB12	140568740	0.000000	0.05858	0.001000	0.08648	0.274000	0.26718	-0.071000	0.11505	-0.041000	0.13558	-0.367000	0.07326	GCG		0.498	PCDHB12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251815.2	NM_018932		4	142	0	0	0	1	0	4	142					T	140588556	C	T	140588556	3	4	74	1	0	0	0	0	1	0	0	0	11537	768	27	1	79	1	PCDHB12	5	140588556	Missense_Mutation	SNP	C	TCGA-EJ-5530-01A-01D-1576-08	337657	140588556	40326704	27	3867											
PCDHGA10	56106	broad.mit.edu	37	chr5	140794640	140794640	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacgggcgaggtgcgcacggCgcgagccctgctggacagag	7	3	18	13	6	0	1	0	0	0	1	0	4	0	2	1	4	3	2	1	4	0	0			TCGA-EJ-5530-01A-01D-1576-08	TCGA-EJ-5530-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058daa8b-f3ee-4992-b05e-91c13d9945ec	b153654d-dc6f-4409-afb3-30fd935ea8b5	g.chr5:140794640C>T	ENST00000398610.2	+	1	1898	c.1898C>T	c.(1897-1899)gCg>gTg	p.A633V	PCDHGB1_ENST00000523390.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGB7_ENST00000398594.2_5'Flank|PCDHGB3_ENST00000576222.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018913.2|NM_032090.1	NP_061736.1|NP_114479.1	Q9Y5H3	PCDGA_HUMAN	protocadherin gamma subfamily A, 10	633	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.A633V(1)		breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	43			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTGCGCACGGCGCGAGCCCTG	0.692																																						ENST00000398610.2																			1	Substitution - Missense(1)	p.A633V(1)	prostate(1)	breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						c.(1897-1899)gCg>gTg									45	54	51					5																	140794640		2203	4296	6499	SO:0001583	missense	0							g.chr5:140794640C>T		CCDS47292.1, CCDS75343.1	5q31	2010-01-26			ENSG00000253846	ENSG00000253846		"Cadherins / Protocadherins : Clustered"	8697	other	protocadherin		606297				10380929	Standard	NM_018913		Approved	PCDH-GAMMA-A10		Q9Y5H3	OTTHUMG00000163688	ENST00000398610.2:c.1898C>T	5.37:g.140794640C>T	ENSP00000381611:p.Ala633Val					PCDHGA6_ENST00000517434.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron	p.A633V	NM_018913.2|NM_032090.1	NP_061736.1|NP_114479.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1898	+								Q9Y5E0	Missense_Mutation	SNP	ENST00000398610.2	37	c.1898C>T	CCDS47292.1	.	.	.	.	.	.	.	.	.	.	c	6.944	0.544018	0.13312	.	.	ENSG00000253846	ENST00000398610	T	0.51071	0.72	5.39	5.39	0.77823	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.40862	0.1134	L	0.31526	0.94	0.09310	N	1	P;B	0.42078	0.77;0.355	B;B	0.38378	0.244;0.272	T	0.37174	-0.9717	9	0.42905	T	0.14	.	18.8436	0.92194	0.0:1.0:0.0:0.0	.	633;633	Q9Y5H3-2;Q9Y5H3	.;PCDGA_HUMAN	V	633	ENSP00000381611:A633V	ENSP00000381611:A633V	A	+	2	0	PCDHGA10	140774824	0.000000	0.05858	0.035000	0.18076	0.074000	0.17049	0.650000	0.24858	2.548000	0.85928	0.556000	0.70494	GCG		0.692	PCDHGA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374747.1	NM_018913		29	59	0	0	0	1	0	29	59					T	140794640	C	T	140794640	3	4	74	1	0	0	0	0	1	0	0	0	11551	768	27	1	1900	1	PCDHGA10	5	140794640	Missense_Mutation	SNP	C	TCGA-EJ-5530-01A-01D-1576-08	206084	140794640	40120620	28	3868											
TNXB	7148	broad.mit.edu	37	chr6	32021196	32021196	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgacagagatggggcccacGcgctggccaccgtggaagcc	9	4	15	13	3	0	2	0	1	0	1	0	4	0	3	4	4	1	1	4	4	1	0			TCGA-EJ-5530-01A-01D-1576-08	TCGA-EJ-5530-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058daa8b-f3ee-4992-b05e-91c13d9945ec	b153654d-dc6f-4409-afb3-30fd935ea8b5	g.chr6:32021196G>A	ENST00000375244.3	-	25	8961	c.8760C>T	c.(8758-8760)cgC>cgT	p.R2920R	TNXB_ENST00000375247.2_Silent_p.R2918R			P22105	TENX_HUMAN	tenascin XB	2967	Fibronectin type-III 21. {ECO:0000255|PROSITE-ProRule:PRU00316}.				actin cytoskeleton organization (GO:0030036)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|collagen fibril organization (GO:0030199)|collagen metabolic process (GO:0032963)|elastic fiber assembly (GO:0048251)|extracellular fibril organization (GO:0043206)|fatty acid metabolic process (GO:0006631)|regulation of JUN kinase activity (GO:0043506)|single organismal cell-cell adhesion (GO:0016337)|triglyceride metabolic process (GO:0006641)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)	p.R2996R(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						TGGGGCCCACGCGCTGGCCAC	0.632																																						ENST00000375244.3																			1	Substitution - coding silent(1)	p.R2996R(1)	prostate(1)	endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						c.(8758-8760)cgC>cgT		tenascin XB							39	40	40					6																	32021196		1229	2540	3769	SO:0001819	synonymous_variant	7148				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding	g.chr6:32021196G>A	X71923	CCDS4736.1	6p21.3	2013-02-11			ENSG00000168477	ENSG00000168477		"Fibrinogen C domain containing", "Fibronectin type III domain containing"	11976	protein-coding gene	gene with protein product		600985		TNXB1, TNXB2		8530023	Standard	NM_019105		Approved	TNXBS, XBS, XB	uc021yvf.2	P22105	OTTHUMG00000031088	ENST00000375244.3:c.8760C>T	6.37:g.32021196G>A						TNXB_ENST00000375247.2_Silent_p.R2918R	p.R2920R			P22105	TENX_HUMAN			25	8961	-			2967			Fibronectin type-III 21.		P78530|P78531|Q08424|Q08AM0|Q08AM1|Q59GU7|Q5SQD3|Q5ST74|Q7L8Q4|Q8N4R1|Q9NPK9|Q9UC10|Q9UC11|Q9UC12|Q9UC13|Q9UMG7	Silent	SNP	ENST00000375244.3	37	c.8760C>T																																																																																					0.632	TNXB-001	PUTATIVE	not_organism_supported|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000268927.2	NM_019105		5	15	0	0	0	1	0	5	15					A	32021196	G	A	32021196	2	1	74	1	0	0	0	0	0	0	0	1	16343	1074	38	1		1	TNXB	6	32021196	Silent	SNP	G	TCGA-EJ-5530-01A-01D-1576-08		32021196	139093871	29	3869											
MDN1	23195	broad.mit.edu	37	chr6	90382073	90382073	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgtcctgattgcagtctcTcaaagcctgctgcctcattc	7	13	8	13	0	3	1	2	1	1	0	6	2	4	1	3	0	4	2	3	0	1	2			TCGA-EJ-5530-01A-01D-1576-08	TCGA-EJ-5530-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058daa8b-f3ee-4992-b05e-91c13d9945ec	b153654d-dc6f-4409-afb3-30fd935ea8b5	g.chr6:90382073T>C	ENST00000369393.3	-	82	13755	c.13640A>G	c.(13639-13641)gAg>gGg	p.E4547G	RP1-122O8.7_ENST00000438877.1_RNA|MDN1_ENST00000468568.1_5'UTR|MDN1_ENST00000428876.1_Missense_Mutation_p.E4547G			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	4547					ATP catabolic process (GO:0006200)|protein complex assembly (GO:0006461)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|unfolded protein binding (GO:0051082)	p.E4547G(1)		NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		TTGCAGTCTCTCAAAGCCTGC	0.398																																						ENST00000369393.3																			1	Substitution - Missense(1)	p.E4547G(1)	prostate(1)	NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218						c.(13639-13641)gAg>gGg		MDN1, midasin homolog (yeast)							97	91	93					6																	90382073		2203	4300	6503	SO:0001583	missense	23195				protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding	g.chr6:90382073T>C	AF503925	CCDS5024.1	6q15	2014-01-28			ENSG00000112159	ENSG00000112159			18302	protein-coding gene	gene with protein product						9205841, 12102729	Standard	XM_005248699		Approved	KIAA0301	uc003pnn.1	Q9NU22	OTTHUMG00000015213	ENST00000369393.3:c.13640A>G	6.37:g.90382073T>C	ENSP00000358400:p.Glu4547Gly					MDN1_ENST00000468568.1_5'UTR|MDN1_ENST00000428876.1_Missense_Mutation_p.E4547G	p.E4547G			Q9NU22	MDN1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0193)	82	13755	-		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)	4547					O15019|Q5T794	Missense_Mutation	SNP	ENST00000369393.3	37	c.13640A>G	CCDS5024.1	.	.	.	.	.	.	.	.	.	.	T	14.59	2.581477	0.46006	.	.	ENSG00000112159	ENST00000369393;ENST00000428876	T;T	0.32023	1.47;1.47	6.06	6.06	0.98353	.	0.132302	0.51477	D	0.000097	T	0.16214	0.0390	L	0.59436	1.845	0.34587	D	0.715134	P	0.39665	0.682	B	0.30401	0.115	T	0.10870	-1.0611	10	0.28530	T	0.3	.	16.6093	0.84858	0.0:0.0:0.0:1.0	.	4547	Q9NU22	MDN1_HUMAN	G	4547	ENSP00000358400:E4547G;ENSP00000413970:E4547G	ENSP00000358400:E4547G	E	-	2	0	MDN1	90438794	0.900000	0.30661	1.000000	0.80357	0.850000	0.48378	3.096000	0.50243	2.324000	0.78689	0.533000	0.62120	GAG		0.398	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041514.2			3	139	0	0	0	1	0	3	139					C	90382073	T	C	90382073	3	2	74	1	0	0	0	0	1	0	0	0	9415	1551	54	4	3234	4	MDN1	6	90382073	Missense_Mutation	SNP	T	TCGA-EJ-5530-01A-01D-1576-08	58360877	90382073	80732994	30	3870											
KLHL7	55975	broad.mit.edu	37	chr7	23164685	23164685	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agaatttccgtgaatagcaaCaatgttcagtctttgctgga	12	13	9	7	1	2	2	1	1	1	1	3	3	3	3	1	1	3	3	1	1	5	4			TCGA-EJ-5530-01A-01D-1576-08	TCGA-EJ-5530-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058daa8b-f3ee-4992-b05e-91c13d9945ec	b153654d-dc6f-4409-afb3-30fd935ea8b5	g.chr7:23164685C>G	ENST00000339077.5	+	4	579	c.336C>G	c.(334-336)aaC>aaG	p.N112K	KLHL7_ENST00000542558.1_Intron|KLHL7_ENST00000539124.1_Missense_Mutation_p.N36K|KLHL7_ENST00000322231.7_Missense_Mutation_p.N90K|KLHL7_ENST00000479288.1_Intron|KLHL7_ENST00000410047.1_Missense_Mutation_p.N90K|KLHL7_ENST00000545443.1_Missense_Mutation_p.N90K|KLHL7_ENST00000409689.1_Missense_Mutation_p.N64K|KLHL7_ENST00000322275.5_Missense_Mutation_p.N112K|KLHL7_ENST00000545771.1_Missense_Mutation_p.N90K	NM_001031710.2	NP_001026880.2	Q8IXQ5	KLHL7_HUMAN	kelch-like family member 7	112					protein ubiquitination (GO:0016567)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)	p.N90K(1)|p.N112K(1)		breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						TGAATAGCAACAATGTTCAGT	0.328																																						ENST00000322231.7																			2	Substitution - Missense(2)	p.N90K(1)|p.N112K(1)	prostate(2)	breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						c.(268-270)aaC>aaG		kelch-like family member 7							84	85	85					7																	23164685		2202	4300	6502	SO:0001583	missense	55975					Golgi apparatus|nucleolus|plasma membrane		g.chr7:23164685C>G		CCDS5378.1, CCDS34609.1, CCDS5378.2, CCDS55095.1	7p15.3	2013-01-30	2013-01-30		ENSG00000122550	ENSG00000122550		"Kelch-like", "BTB/POZ domain containing"	15646	protein-coding gene	gene with protein product	"retinitis pigmentosa 42"	611119	"kelch-like 7 (Drosophila)"			19520207	Standard	NM_001031710		Approved	KLHL6, SBBI26, RP42	uc003svs.4	Q8IXQ5	OTTHUMG00000094813	ENST00000339077.5:c.336C>G	7.37:g.23164685C>G	ENSP00000343273:p.Asn112Lys					KLHL7_ENST00000409689.1_Missense_Mutation_p.N64K|KLHL7_ENST00000545771.1_Missense_Mutation_p.N90K|KLHL7_ENST00000479288.1_Intron|KLHL7_ENST00000339077.4_Missense_Mutation_p.N112K|KLHL7_ENST00000322275.5_Missense_Mutation_p.N112K|KLHL7_ENST00000545443.1_Missense_Mutation_p.N90K|KLHL7_ENST00000410047.1_Missense_Mutation_p.N90K|KLHL7_ENST00000542558.1_Intron|KLHL7_ENST00000539124.1_Missense_Mutation_p.N36K	p.N90K			Q8IXQ5	KLHL7_HUMAN			5	760	+			112			BTB.		A4D144|B7Z5I9|G5E9G3|Q7Z765|Q96MV2|Q9BQF8|Q9UDQ9	Missense_Mutation	SNP	ENST00000339077.5	37	c.270C>G	CCDS34609.1	.	.	.	.	.	.	.	.	.	.	C	12.36	1.915097	0.33815	.	.	ENSG00000122550	ENST00000322231;ENST00000339077;ENST00000322275;ENST00000539124;ENST00000409689;ENST00000410047;ENST00000545771;ENST00000545443	T;T;T;T;T;T;T;T	0.65549	-0.16;-0.16;-0.16;-0.16;-0.16;-0.16;-0.16;-0.16	5.78	4.88	0.63580	BTB/POZ-like (1);BTB/POZ (1);BTB/POZ fold (2);	0.039463	0.85682	D	0.000000	T	0.50411	0.1614	N	0.05050	-0.12	0.80722	D	1	D;B;B;P;D	0.55605	0.972;0.001;0.001;0.952;0.972	P;B;B;B;P	0.53912	0.673;0.003;0.001;0.419;0.737	T	0.45264	-0.9273	10	0.21540	T	0.41	.	13.3329	0.60500	0.0:0.8814:0.0:0.1186	.	90;112;90;112;90	F5GYE2;Q8IXQ5;Q8IXQ5-2;Q8IXQ5-3;Q8IXQ5-4	.;KLHL7_HUMAN;.;.;.	K	90;112;112;36;64;90;90;90	ENSP00000322958:N90K;ENSP00000343273:N112K;ENSP00000323270:N112K;ENSP00000441136:N36K;ENSP00000386263:N64K;ENSP00000386999:N90K;ENSP00000446445:N90K;ENSP00000442366:N90K	ENSP00000322958:N90K	N	+	3	2	KLHL7	23131210	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.669000	0.37492	2.894000	0.99253	0.655000	0.94253	AAC		0.328	KLHL7-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326860.3	NM_018846		8	97	0	0	0	1	0	8	97					G	23164685	C	G	23164685	3	3	74	1	0	0	0	0	1	0	0	0	8394	477	17	5	350	5	KLHL7	7	23164685	Missense_Mutation	SNP	C	TCGA-EJ-5530-01A-01D-1576-08		23164685	135973978	31	3871											
KIAA0895	23366	broad.mit.edu	37	chr7	36423479	36423479	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaaataacctgaggtagagAacttgagtttagctcttctt	12	13	8	8	0	2	3	0	2	2	1	2	4	2	3	2	1	3	3	2	1	5	7			TCGA-EJ-5530-01A-01D-1576-08	TCGA-EJ-5530-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058daa8b-f3ee-4992-b05e-91c13d9945ec	b153654d-dc6f-4409-afb3-30fd935ea8b5	g.chr7:36423479A>G	ENST00000297063.6	-	2	217	c.167T>C	c.(166-168)tTc>tCc	p.F56S		NM_001100425.1	NP_001093895.1	Q8NCT3	K0895_HUMAN	KIAA0895	56								p.F56S(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	26						TGAGGTAGAGAACTTGAGTTT	0.358																																						ENST00000297063.6																			1	Substitution - Missense(1)	p.F56S(1)	prostate(1)	breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	26						c.(166-168)tTc>tCc		KIAA0895							127	118	121					7																	36423479		1819	4082	5901	SO:0001583	missense	23366							g.chr7:36423479A>G	BC028678	CCDS43570.1, CCDS47573.1, CCDS56482.1, CCDS56483.1, CCDS56484.1, CCDS75583.1	7p14.2	2008-11-27			ENSG00000164542	ENSG00000164542			22206	protein-coding gene	gene with protein product							Standard	NM_015314		Approved		uc003tfd.2	Q8NCT3	OTTHUMG00000154939	ENST00000297063.6:c.167T>C	7.37:g.36423479A>G	ENSP00000297063:p.Phe56Ser						p.F56S	NM_001100425.1	NP_001093895.1	Q8NCT3	K0895_HUMAN			2	217	-			56					B4DF35|B7ZLT4|B9EGB9|O94969|Q0VGC1|Q7Z4L2	Missense_Mutation	SNP	ENST00000297063.6	37	c.167T>C	CCDS43570.1	.	.	.	.	.	.	.	.	.	.	A	10.75	1.437375	0.25900	.	.	ENSG00000164542	ENST00000297063;ENST00000429651	.	.	.	4.05	0.115	0.14643	.	.	.	.	.	T	0.25044	0.0608	N	0.22421	0.69	0.09310	N	1	B	0.10296	0.003	B	0.04013	0.001	T	0.19712	-1.0297	8	0.51188	T	0.08	-15.9017	4.7014	0.12828	0.5087:0.3858:0.1055:0.0	.	56	Q8NCT3	K0895_HUMAN	S	56	.	ENSP00000297063:F56S	F	-	2	0	KIAA0895	36390004	0.991000	0.36638	0.017000	0.16124	0.945000	0.59286	0.640000	0.24705	0.025000	0.15241	0.459000	0.35465	TTC		0.358	KIAA0895-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000337717.1	NM_015314		6	78	0	0	0	1	0	6	78					G	36423479	A	G	36423479	3	3	74	1	0	0	0	0	1	0	0	0	8197	246	9	4	1448	4	KIAA0895	7	36423479	Missense_Mutation	SNP	A	TCGA-EJ-5530-01A-01D-1576-08	13258794	36423479	122715184	32	3872											
C7orf63	79846	broad.mit.edu	37	chr7	89912266	89912266	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tggccgaggcaacaagtttgCccagatgcgttacagtttaa	11	10	11	9	2	0	1	0	0	0	1	0	2	0	1	2	2	4	4	2	2	4	4			TCGA-EJ-5530-01A-01D-1576-08	TCGA-EJ-5530-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058daa8b-f3ee-4992-b05e-91c13d9945ec	b153654d-dc6f-4409-afb3-30fd935ea8b5	g.chr7:89912266C>T	ENST00000389297.4	+	13	1684	c.1433C>T	c.(1432-1434)gCc>gTc	p.A478V	C7orf63_ENST00000497910.1_Missense_Mutation_p.A460V|C7orf63_ENST00000316089.8_Missense_Mutation_p.A478V	NM_001039706.2|NM_001160138.1	NP_001034795.2|NP_001153610.1	A5D8W1	CG063_HUMAN		478								p.A478V(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(14)|ovary(1)|prostate(3)	37						AACAAGTTTGCCCAGATGCGT	0.398																																						ENST00000389297.4																			1	Substitution - Missense(1)	p.A478V(1)	prostate(1)	breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(14)|ovary(1)|prostate(3)	37						c.(1432-1434)gCc>gTc		chromosome 7 open reading frame 63							114	106	108					7																	89912266		1899	4107	6006	SO:0001583	missense	79846						binding	g.chr7:89912266C>T																												ENST00000389297.4:c.1433C>T	7.37:g.89912266C>T	ENSP00000373948:p.Ala478Val					C7orf63_ENST00000497910.1_Missense_Mutation_p.A460V|C7orf63_ENST00000316089.8_Missense_Mutation_p.A478V	p.A478V	NM_001039706.2|NM_001160138.1	NP_001034795.2|NP_001153610.1	A5D8W1	CG063_HUMAN			13	1684	+			478					A3KMP9|B4DYW6|B4DZP7|B9EIM7|Q6V705|Q8IY89|Q9H7C2	Missense_Mutation	SNP	ENST00000389297.4	37	c.1433C>T	CCDS43613.2	.	.	.	.	.	.	.	.	.	.	C	27.7	4.858493	0.91433	.	.	ENSG00000105792	ENST00000389297;ENST00000316089;ENST00000497910;ENST00000457170;ENST00000449577	T;T;T;T;T	0.34859	1.34;1.34;1.34;1.34;1.34	5.39	5.39	0.77823	Armadillo-type fold (1);	0.108387	0.64402	D	0.000009	T	0.60025	0.2237	M	0.69358	2.11	0.48696	D	0.999694	D;D;D	0.71674	0.972;0.998;0.994	P;D;D	0.68943	0.902;0.961;0.917	T	0.62632	-0.6813	10	0.72032	D	0.01	-6.8081	19.139	0.93439	0.0:1.0:0.0:0.0	.	460;478;478	A5D8W1-5;A5D8W1;A5D8W1-2	.;CG063_HUMAN;.	V	478;478;460;361;61	ENSP00000373948:A478V;ENSP00000321753:A478V;ENSP00000419549:A460V;ENSP00000392365:A361V;ENSP00000391571:A61V	ENSP00000321753:A478V	A	+	2	0	C7orf63	89750202	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.984000	0.70548	2.513000	0.84729	0.591000	0.81541	GCC		0.398	C7orf63-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000139891.4			3	94	0	0	0	1	0	3	94					T	89912266	C	T	89912266	3	4	74	1	0	0	0	0	1	0	0	0	2409	739	26	3	1483	3	C7orf63	7	89912266	Missense_Mutation	SNP	C	TCGA-EJ-5530-01A-01D-1576-08	53488787	89912266	69226397	33	3873											
NKX3-1	4824	broad.mit.edu	37	chr8	23538928	23538928	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atagcgtctgttctggaaccAtatcttcacttgggtctccg	7	14	9	11	2	5	0	1	0	4	0	6	1	5	1	2	2	2	1	2	2	3	5			TCGA-EJ-5530-01A-01D-1576-08	TCGA-EJ-5530-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058daa8b-f3ee-4992-b05e-91c13d9945ec	b153654d-dc6f-4409-afb3-30fd935ea8b5	g.chr8:23538928A>G	ENST00000380871.4	-	2	548	c.511T>C	c.(511-513)Tgg>Cgg	p.W171R	NKX3-1_ENST00000523261.1_Missense_Mutation_p.W96R	NM_006167.3	NP_006158.2	Q99801	NKX31_HUMAN	NK3 homeobox 1	171					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|androgen receptor signaling pathway (GO:0030521)|branching involved in prostate gland morphogenesis (GO:0060442)|branching morphogenesis of an epithelial tube (GO:0048754)|cellular response to drug (GO:0035690)|cellular response to hypoxia (GO:0071456)|cellular response to interleukin-1 (GO:0071347)|cellular response to steroid hormone stimulus (GO:0071383)|cellular response to tumor necrosis factor (GO:0071356)|dorsal aorta development (GO:0035907)|epithelial cell proliferation involved in salivary gland morphogenesis (GO:0060664)|heart development (GO:0007507)|male gonad development (GO:0008584)|metanephros development (GO:0001656)|mitotic cell cycle arrest (GO:0071850)|multicellular organismal development (GO:0007275)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|negative regulation of estrogen receptor binding (GO:0071899)|negative regulation of gene expression (GO:0010629)|negative regulation of insulin-like growth factor receptor signaling pathway (GO:0043569)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of transcription, DNA-templated (GO:0045892)|pharyngeal system development (GO:0060037)|positive regulation of androgen secretion (GO:2000836)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell death (GO:0010942)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of gene expression (GO:0010628)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of response to DNA damage stimulus (GO:2001022)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein kinase B signaling (GO:0043491)|regulation of transcription, DNA-templated (GO:0006355)|response to testosterone (GO:0033574)|salivary gland development (GO:0007431)|somitogenesis (GO:0001756)|steroid hormone mediated signaling pathway (GO:0043401)	intracellular (GO:0005622)|nucleus (GO:0005634)	androgen receptor activity (GO:0004882)|core promoter binding (GO:0001047)|estrogen receptor activity (GO:0030284)|estrogen receptor binding (GO:0030331)|histone deacetylase binding (GO:0042826)|protein kinase activator activity (GO:0030295)|protein self-association (GO:0043621)|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity (GO:0000983)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|transcription regulatory region sequence-specific DNA binding (GO:0000976)	p.W171R(1)		large_intestine(3)|lung(4)|prostate(5)|skin(2)	14		Prostate(55;0.114)		Colorectal(74;0.0146)|COAD - Colon adenocarcinoma(73;0.061)|BRCA - Breast invasive adenocarcinoma(99;0.0708)		TTCTGGAACCATATCTTCACT	0.562																																						ENST00000380871.4																			1	Substitution - Missense(1)	p.W171R(1)	prostate(1)	large_intestine(3)|lung(4)|prostate(5)|skin(2)	14						c.(511-513)Tgg>Cgg		NK3 homeobox 1							185	182	183					8																	23538928		2203	4300	6503	SO:0001583	missense	4824				negative regulation of estrogen receptor binding|negative regulation of transcription, DNA-dependent|positive regulation of cell division|positive regulation of mitotic cell cycle|positive regulation of transcription from RNA polymerase II promoter	nucleus	estrogen receptor activity|estrogen receptor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region sequence-specific DNA binding	g.chr8:23538928A>G		CCDS6042.1, CCDS59095.1	8p21.2	2012-03-09	2007-07-09	2002-10-04	ENSG00000167034	ENSG00000167034		"Homeoboxes / ANTP class : NKL subclass"	7838	protein-coding gene	gene with protein product		602041	"NK homeobox (Drosophila), family 3, A", "NK3 transcription factor related, locus 1 (Drosophila)"	NKX3A		9226374	Standard	NM_006167		Approved	NKX3.1, BAPX2	uc011kzx.2	Q99801	OTTHUMG00000097851	ENST00000380871.4:c.511T>C	8.37:g.23538928A>G	ENSP00000370253:p.Trp171Arg					NKX3-1_ENST00000523261.1_Missense_Mutation_p.W96R	p.W171R	NM_006167.3	NP_006158.2	Q99801	NKX31_HUMAN		Colorectal(74;0.0146)|COAD - Colon adenocarcinoma(73;0.061)|BRCA - Breast invasive adenocarcinoma(99;0.0708)	2	548	-		Prostate(55;0.114)	171					O15465|Q9H2P4|Q9H2P5|Q9H2P6|Q9H2P7|Q9HBG0	Missense_Mutation	SNP	ENST00000380871.4	37	c.511T>C	CCDS6042.1	.	.	.	.	.	.	.	.	.	.	A	23.5	4.429596	0.83776	.	.	ENSG00000167034	ENST00000380871;ENST00000300332;ENST00000523261	D;D	0.99822	-6.94;-6.94	5.66	5.66	0.87406	Homeobox, eukaryotic (2);Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);Homeobox, conserved site (1);	0.000000	0.64402	D	0.000001	D	0.99919	0.9962	H	0.99933	4.98	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95973	0.8971	10	0.87932	D	0	.	14.1488	0.65367	1.0:0.0:0.0:0.0	.	171	Q99801	NKX31_HUMAN	R	171;127;96	ENSP00000370253:W171R;ENSP00000429729:W96R	ENSP00000300332:W127R	W	-	1	0	NKX3-1	23594873	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.261000	0.95576	2.285000	0.76669	0.533000	0.62120	TGG		0.562	NKX3-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215141.2			15	248	0	0	0	1	0	15	248					G	23538928	A	G	23538928	3	3	74	1	0	0	0	0	1	0	0	0	10455	217	8	4	197	4	NKX3-1	8	23538928	Missense_Mutation	SNP	A	TCGA-EJ-5530-01A-01D-1576-08		23538928	122825094	34	3874											
INTS9	55756	broad.mit.edu	37	chr8	28633369	28633369	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atggcggggggctggcagtcGatcatgaggtccatcctgtg	6	9	17	9	2	1	1	1	1	0	0	4	2	3	1	2	6	0	2	2	6	0	0			TCGA-EJ-5530-01A-01D-1576-08	TCGA-EJ-5530-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058daa8b-f3ee-4992-b05e-91c13d9945ec	b153654d-dc6f-4409-afb3-30fd935ea8b5	g.chr8:28633369G>A	ENST00000521022.1	-	14	1551	c.1470C>T	c.(1468-1470)atC>atT	p.I490I	INTS9_ENST00000521070.1_5'Flank|INTS9_ENST00000397363.4_Silent_p.I384I|INTS9_ENST00000416984.2_Silent_p.I469I|INTS9_ENST00000521777.1_Silent_p.I466I	NM_018250.3	NP_060720.2	Q9NV88	INT9_HUMAN	integrator complex subunit 9	490					snRNA processing (GO:0016180)	cytoplasm (GO:0005737)|integrator complex (GO:0032039)|nucleus (GO:0005634)		p.I490I(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|pancreas(2)|prostate(1)|urinary_tract(2)	19		Ovarian(32;0.0439)		KIRC - Kidney renal clear cell carcinoma(542;0.127)|Kidney(114;0.152)		GCTGGCAGTCGATCATGAGGT	0.612																																						ENST00000416984.2																			1	Substitution - coding silent(1)	p.I490I(1)	prostate(1)	breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|pancreas(2)|prostate(1)|urinary_tract(2)	19						c.(1405-1407)atC>atT		integrator complex subunit 9							53	55	54					8																	28633369		2203	4300	6503	SO:0001819	synonymous_variant	55756				snRNA processing	integrator complex	protein binding	g.chr8:28633369G>A	BC025267	CCDS34873.1, CCDS55215.1, CCDS55216.1	8p21.1	2008-02-05			ENSG00000104299	ENSG00000104299			25592	protein-coding gene	gene with protein product		611352				16239144	Standard	NM_001172562		Approved	FLJ10871, CPSF2L, RC-74	uc011lav.2	Q9NV88	OTTHUMG00000164030	ENST00000521022.1:c.1470C>T	8.37:g.28633369G>A						INTS9_ENST00000521777.1_Silent_p.I466I|INTS9_ENST00000521022.1_Silent_p.I490I|INTS9_ENST00000397363.4_Silent_p.I384I	p.I469I	NM_001145159.2	NP_001138631.1	Q9NV88	INT9_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.127)|Kidney(114;0.152)	13	1766	-		Ovarian(32;0.0439)	490					B7Z560|B7Z6M5|O00224|Q8TB16	Silent	SNP	ENST00000521022.1	37	c.1407C>T	CCDS34873.1																																																																																				0.612	INTS9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376846.1	NM_018250		4	53	0	0	0	1	0	4	53					A	28633369	G	A	28633369	2	1	74	1	0	0	0	0	0	0	0	1	7785	1048	37	2		2	INTS9	8	28633369	Silent	SNP	G	TCGA-EJ-5530-01A-01D-1576-08	5094441	28633369	117730653	35	3875											
DCAF4L2	138009	broad.mit.edu	37	chr8	88885073	88885073	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgagcagccctggtgctcctCggaagcccccgaggcgagaa	8	5	14	14	3	0	2	0	1	0	1	2	5	1	3	4	3	4	2	4	3	2	0			TCGA-EJ-5530-01A-01D-1576-08	TCGA-EJ-5530-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058daa8b-f3ee-4992-b05e-91c13d9945ec	b153654d-dc6f-4409-afb3-30fd935ea8b5	g.chr8:88885073C>T	ENST00000319675.3	-	1	1223	c.1127G>A	c.(1126-1128)cGa>cAa	p.R376Q		NM_152418.3	NP_689631.1	Q8NA75	DC4L2_HUMAN	DDB1 and CUL4 associated factor 4-like 2	376								p.R376Q(1)		breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	83						TGGTGCTCCTCGGAAGCCCCC	0.582																																						ENST00000319675.3																			1	Substitution - Missense(1)	p.R376Q(1)	prostate(1)	breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	83						c.(1126-1128)cGa>cAa		DDB1 and CUL4 associated factor 4-like 2							51	57	55					8																	88885073		2203	4300	6503	SO:0001583	missense	138009							g.chr8:88885073C>T	AL833507	CCDS6245.1	8q21.3	2013-01-09	2009-07-17	2009-07-17		ENSG00000176566		"WD repeat domain containing"	26657	protein-coding gene	gene with protein product			"WD repeat domain 21C"	WDR21C		14702039	Standard	NM_152418		Approved		uc003ydz.3	Q8NA75		ENST00000319675.3:c.1127G>A	8.37:g.88885073C>T	ENSP00000316496:p.Arg376Gln						p.R376Q	NM_152418.3	NP_689631.1	Q8NA75	DC4L2_HUMAN			1	1223	-			376						Missense_Mutation	SNP	ENST00000319675.3	37	c.1127G>A	CCDS6245.1	.	.	.	.	.	.	.	.	.	.	C	12.05	1.820986	0.32237	.	.	ENSG00000176566	ENST00000319675	T	0.20463	2.07	1.37	0.406	0.16366	.	0.269368	0.36703	N	0.002458	T	0.15825	0.0381	M	0.63428	1.95	0.26507	N	0.97467	B	0.24618	0.107	B	0.15870	0.014	T	0.10405	-1.0631	10	0.38643	T	0.18	.	3.2772	0.06902	0.0:0.5007:0.0:0.4993	.	376	Q8NA75	DC4L2_HUMAN	Q	376	ENSP00000316496:R376Q	ENSP00000316496:R376Q	R	-	2	0	DCAF4L2	88954189	0.621000	0.27077	0.058000	0.19502	0.448000	0.32197	0.233000	0.17911	0.735000	0.32537	0.467000	0.42956	CGA		0.582	DCAF4L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375302.1	NM_152418		44	57	0	0	0	1	0	44	57					T	88885073	C	T	88885073	3	4	74	1	0	0	0	0	1	0	0	0	4272	884	31	2	64	2	DCAF4L2	8	88885073	Missense_Mutation	SNP	C	TCGA-EJ-5530-01A-01D-1576-08	60251704	88885073	57478949	36	3876											
RAD21	5885	broad.mit.edu	37	chr8	117878924	117878924	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgggccgctagccaaattttGgccagaggccctcttttact	7	12	10	12	1	1	1	0	0	1	1	1	1	1	1	4	3	2	1	4	3	3	5			TCGA-EJ-5530-01A-01D-1576-08	TCGA-EJ-5530-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058daa8b-f3ee-4992-b05e-91c13d9945ec	b153654d-dc6f-4409-afb3-30fd935ea8b5	g.chr8:117878924G>A	ENST00000297338.2	-	2	332	c.45C>T	c.(43-45)gcC>gcT	p.A15A	RAD21_ENST00000523547.1_5'UTR	NM_006265.2	NP_006256.1	O60216	RAD21_HUMAN	RAD21 homolog (S. pombe)	15					apoptotic process (GO:0006915)|chromosome segregation (GO:0007059)|DNA recombination (GO:0006310)|double-strand break repair (GO:0006302)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|protein localization to chromatin (GO:0071168)|reciprocal meiotic recombination (GO:0007131)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cohesin complex (GO:0008278)|cytosol (GO:0005829)|membrane (GO:0016020)|nuclear meiotic cohesin complex (GO:0034991)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)		p.A15A(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(1)|stomach(1)	32	all_cancers(13;1.21e-21)|Lung NSC(37;0.000134)|Ovarian(258;0.0172)					GCCAAATTTTGGCCAGAGGCC	0.433																																						ENST00000297338.2																			1	Substitution - coding silent(1)	p.A15A(1)	prostate(1)	endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(1)|stomach(1)	32						c.(43-45)gcC>gcT		RAD21 homolog (S. pombe)							46	46	46					8																	117878924		2203	4299	6502	SO:0001819	synonymous_variant	5885				apoptosis|cell division|chromosome segregation|double-strand break repair|mitotic metaphase/anaphase transition|mitotic prometaphase|protein localization to chromatin|reciprocal meiotic recombination|regulation of transcription from RNA polymerase II promoter	chromosome, centromeric region|cohesin complex|nuclear chromosome|nucleoplasm	protein binding	g.chr8:117878924G>A	BC050381	CCDS6321.1	8q24.11	2014-09-17	2001-11-28		ENSG00000164754	ENSG00000164754			9811	protein-coding gene	gene with protein product	"sister chromatid cohesion 1"	606462	"RAD21 (S. pombe) homolog"			8812457	Standard	NM_006265		Approved	KIAA0078, hHR21, SCC1	uc003yod.3	O60216	OTTHUMG00000164959	ENST00000297338.2:c.45C>T	8.37:g.117878924G>A						RAD21_ENST00000523547.1_5'UTR	p.A15A	NM_006265.2	NP_006256.1	O60216	RAD21_HUMAN			2	332	-	all_cancers(13;1.21e-21)|Lung NSC(37;0.000134)|Ovarian(258;0.0172)		15					A8K0E0|Q15001|Q99568	Silent	SNP	ENST00000297338.2	37	c.45C>T	CCDS6321.1																																																																																				0.433	RAD21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381184.1	NM_006265		3	85	0	0	0	1	0	3	85					A	117878924	G	A	117878924	2	1	74	1	0	0	0	0	0	0	0	1	12981	1335	47	3		3	RAD21	8	117878924	Silent	SNP	G	TCGA-EJ-5530-01A-01D-1576-08	28993851	117878924	28485098	37	3877											
RPL8	6132	broad.mit.edu	37	chr8	146017507	146017507	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctctgtccacggatcacaCggcccatggcgacgggtcct	6	8	11	16	4	2	0	1	0	1	0	5	2	5	1	4	4	0	0	4	4	0	0			TCGA-EJ-5530-01A-01D-1576-08	TCGA-EJ-5530-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058daa8b-f3ee-4992-b05e-91c13d9945ec	b153654d-dc6f-4409-afb3-30fd935ea8b5	g.chr8:146017507C>T	ENST00000262584.3	-	2	240	c.8G>A	c.(7-9)cGt>cAt	p.R3H	RPL8_ENST00000528957.1_Missense_Mutation_p.R3H|RPL8_ENST00000394920.2_Missense_Mutation_p.R3H|RPL8_ENST00000527914.1_Missense_Mutation_p.R3H|RPL8_ENST00000529163.1_Intron	NM_000973.3	NP_000964.1	P62917	RL8_HUMAN	ribosomal protein L8	3					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|focal adhesion (GO:0005925)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|rRNA binding (GO:0019843)|structural constituent of ribosome (GO:0003735)	p.R3H(1)		kidney(12)|lung(7)|prostate(1)	20	all_cancers(97;1.03e-11)|all_epithelial(106;6.69e-11)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Epithelial(56;5.47e-39)|OV - Ovarian serous cystadenocarcinoma(54;6.38e-39)|all cancers(56;5.47e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;0.191)		ACGGATCACACGGCCCATGGC	0.736																																						ENST00000262584.3																			1	Substitution - Missense(1)	p.R3H(1)	prostate(1)	kidney(12)|lung(7)|prostate(1)	20						c.(7-9)cGt>cAt		ribosomal protein L8							13	15	15					8																	146017507		2189	4269	6458	SO:0001583	missense	6132				endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	rRNA binding|structural constituent of ribosome	g.chr8:146017507C>T	Z28407	CCDS6433.1	8q24.3	2011-04-06			ENSG00000161016	ENSG00000161016		"L ribosomal proteins"	10368	protein-coding gene	gene with protein product		604177				7506540, 9582194	Standard	NM_033301		Approved	L8	uc003zec.3	P62917	OTTHUMG00000165249	ENST00000262584.3:c.8G>A	8.37:g.146017507C>T	ENSP00000262584:p.Arg3His					RPL8_ENST00000527914.1_Missense_Mutation_p.R3H|RPL8_ENST00000394920.2_Missense_Mutation_p.R3H|RPL8_ENST00000529163.1_Intron|RPL8_ENST00000528957.1_Missense_Mutation_p.R3H	p.R3H	NM_000973.3	NP_000964.1	P62917	RL8_HUMAN	Epithelial(56;5.47e-39)|OV - Ovarian serous cystadenocarcinoma(54;6.38e-39)|all cancers(56;5.47e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;0.191)	2	240	-	all_cancers(97;1.03e-11)|all_epithelial(106;6.69e-11)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		3					A8K094|D3DWN2|P25120|Q567Q7|Q969V7|Q9BWQ9	Missense_Mutation	SNP	ENST00000262584.3	37	c.8G>A	CCDS6433.1	.	.	.	.	.	.	.	.	.	.	C	31	5.084152	0.94100	.	.	ENSG00000161016	ENST00000394920;ENST00000527914;ENST00000262584;ENST00000528957;ENST00000534813;ENST00000533397;ENST00000532702	T;T;T;T;T	0.49139	0.79;0.79;0.79;0.82;0.8	4.69	4.69	0.59074	Nucleic acid-binding, OB-fold-like (1);Nucleic acid-binding, OB-fold (1);	0.000000	0.85682	D	0.000000	T	0.62684	0.2448	M	0.93939	3.475	0.80722	D	1	B;P;P	0.43750	0.22;0.748;0.816	B;B;B	0.42386	0.05;0.386;0.148	T	0.74842	-0.3527	10	0.62326	D	0.03	-9.751	15.5695	0.76323	0.0:1.0:0.0:0.0	.	3;3;3	B4DVG7;P62917;E9PIZ3	.;RL8_HUMAN;.	H	3	ENSP00000378378:R3H;ENSP00000262584:R3H;ENSP00000433464:R3H;ENSP00000435313:R3H;ENSP00000434535:R3H	ENSP00000262584:R3H	R	-	2	0	RPL8	145988311	1.000000	0.71417	0.998000	0.56505	0.985000	0.73830	6.376000	0.73141	2.616000	0.88540	0.555000	0.69702	CGT		0.736	RPL8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382948.1	NM_000973		3	23	0	0	0	1	0	3	23					T	146017507	C	T	146017507	3	4	74	1	0	0	0	0	1	0	0	0	13602	536	19	1	785	1	RPL8	8	146017507	Missense_Mutation	SNP	C	TCGA-EJ-5530-01A-01D-1576-08	28138583	146017507	346515	38	3878											
FCN1	2219	broad.mit.edu	37	chr9	137803057	137803057	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	caccttgaatgatttgtactTagcaaactggtggttgccct	9	14	9	9	0	0	2	0	2	0	0	0	2	0	2	2	2	4	3	2	2	4	5			TCGA-EJ-5530-01A-01D-1576-08	TCGA-EJ-5530-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058daa8b-f3ee-4992-b05e-91c13d9945ec	b153654d-dc6f-4409-afb3-30fd935ea8b5	g.chr9:137803057T>C	ENST00000371806.3	-	8	746	c.655A>G	c.(655-657)Aag>Gag	p.K219E		NM_002003.3	NP_001994.2	O00602	FCN1_HUMAN	ficolin (collagen/fibrinogen domain containing) 1	219	B domain; contributes to trimerization.|Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				cell surface pattern recognition receptor signaling pathway (GO:0002752)|complement activation (GO:0006956)|complement activation, lectin pathway (GO:0001867)|G-protein coupled receptor signaling pathway (GO:0007186)|innate immune response (GO:0045087)|opsonization (GO:0008228)|positive regulation of interleukin-8 secretion (GO:2000484)	collagen trimer (GO:0005581)|extracellular region (GO:0005576)|extrinsic component of external side of plasma membrane (GO:0031232)	antigen binding (GO:0003823)|calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|G-protein coupled receptor binding (GO:0001664)|signaling pattern recognition receptor activity (GO:0008329)	p.K219E(1)		endometrium(3)|kidney(3)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	37		Myeloproliferative disorder(178;0.0333)		OV - Ovarian serous cystadenocarcinoma(145;3.46e-08)|Epithelial(140;6.01e-08)|all cancers(34;3.69e-07)		GATTTGTACTTAGCAAACTGG	0.527																																						ENST00000371806.3																			1	Substitution - Missense(1)	p.K219E(1)	prostate(1)	endometrium(3)|kidney(3)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	37						c.(655-657)Aag>Gag		ficolin (collagen/fibrinogen domain containing) 1							245	234	238					9																	137803057		2203	4300	6503	SO:0001583	missense	2219				opsonization|signal transduction	collagen|extracellular space	antigen binding|calcium ion binding|receptor binding|sugar binding	g.chr9:137803057T>C	D83920	CCDS6985.1	9q34	2013-02-06	2002-01-14		ENSG00000085265	ENSG00000085265		"Fibrinogen C domain containing"	3623	protein-coding gene	gene with protein product		601252	"ficolin (collagen/fibrinogen domain-containing) 1"			8573080, 8884275	Standard	NM_002003		Approved	FCNM	uc004cfi.3	O00602	OTTHUMG00000020895	ENST00000371806.3:c.655A>G	9.37:g.137803057T>C	ENSP00000360871:p.Lys219Glu						p.K219E	NM_002003.3	NP_001994.2	O00602	FCN1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;3.46e-08)|Epithelial(140;6.01e-08)|all cancers(34;3.69e-07)	8	746	-		Myeloproliferative disorder(178;0.0333)	219			Fibrinogen C-terminal.		Q5VYV5|Q92596	Missense_Mutation	SNP	ENST00000371806.3	37	c.655A>G	CCDS6985.1	.	.	.	.	.	.	.	.	.	.	T	9.810	1.182846	0.21870	.	.	ENSG00000085265	ENST00000371806	T	0.76448	-1.02	3.4	2.23	0.28157	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (4);Fibrinogen, alpha/beta/gamma chain, C-terminal globular, subdomain 1 (1);	.	.	.	.	T	0.69913	0.3164	L	0.41710	1.295	0.34737	D	0.730334	P	0.34909	0.475	P	0.44561	0.453	T	0.67142	-0.5745	9	0.29301	T	0.29	.	2.9921	0.05987	0.2124:0.1216:0.0:0.666	.	219	O00602	FCN1_HUMAN	E	219	ENSP00000360871:K219E	ENSP00000360871:K219E	K	-	1	0	FCN1	136942878	1.000000	0.71417	0.925000	0.36789	0.001000	0.01503	1.972000	0.40540	0.500000	0.27991	-0.463000	0.05309	AAG		0.527	FCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054963.1	NM_002003		10	434	0	0	0	1	0	10	434					C	137803057	T	C	137803057	3	2	74	1	0	0	0	0	1	0	0	0	5791	1763	61	4	333	4	FCN1	9	137803057	Missense_Mutation	SNP	T	TCGA-EJ-5530-01A-01D-1576-08		137803057	3410374	39	3879											
LHX3	8022	broad.mit.edu	37	chr9	139090531	139090531	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ctcagcgtcgctgtcctgccCctcctgaacgctgtccttgt	3	12	9	17	3	1	1	1	1	0	0	5	1	4	1	5	0	3	2	5	0	1	1			TCGA-EJ-5530-01A-01D-1576-08	TCGA-EJ-5530-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058daa8b-f3ee-4992-b05e-91c13d9945ec	b153654d-dc6f-4409-afb3-30fd935ea8b5	g.chr9:139090531C>T	ENST00000371748.5	-	5	838	c.742G>A	c.(742-744)Ggg>Agg	p.G248R	LHX3_ENST00000371746.3_Missense_Mutation_p.G253R	NM_178138.4	NP_835258.1	Q9UBR4	LHX3_HUMAN	LIM homeobox 3	248					inner ear development (GO:0048839)|lung development (GO:0030324)|medial motor column neuron differentiation (GO:0021526)|motor neuron axon guidance (GO:0008045)|negative regulation of apoptotic process (GO:0043066)|organ morphogenesis (GO:0009887)|pituitary gland development (GO:0021983)|placenta development (GO:0001890)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|spinal cord association neuron differentiation (GO:0021527)|spinal cord motor neuron cell fate specification (GO:0021520)|ventral spinal cord interneuron specification (GO:0021521)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)	p.G253R(1)		large_intestine(2)|lung(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	8		Myeloproliferative disorder(178;0.0511)		Epithelial(140;8.43e-08)|OV - Ovarian serous cystadenocarcinoma(145;1.26e-07)		CTGTCCTGCCCCTCCTGAACG	0.711																																						ENST00000371746.3																			1	Substitution - Missense(1)	p.G253R(1)	prostate(1)	large_intestine(2)|lung(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	8						c.(757-759)Ggg>Agg		LIM homeobox 3							16	16	16					9																	139090531		2196	4291	6487	SO:0001583	missense	8022				inner ear development|organ morphogenesis|positive regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr9:139090531C>T	AF096169	CCDS6994.1, CCDS6995.1	9q34.3	2011-06-20			ENSG00000107187	ENSG00000107187		"Homeoboxes / LIM class"	6595	protein-coding gene	gene with protein product		600577				10598593, 10717474	Standard	NM_178138		Approved		uc004cgz.3	Q9UBR4	OTTHUMG00000020924	ENST00000371748.5:c.742G>A	9.37:g.139090531C>T	ENSP00000360813:p.Gly248Arg					LHX3_ENST00000371748.5_Missense_Mutation_p.G248R	p.G253R	NM_014564.3	NP_055379.1	Q9UBR4	LHX3_HUMAN		Epithelial(140;8.43e-08)|OV - Ovarian serous cystadenocarcinoma(145;1.26e-07)	5	875	-		Myeloproliferative disorder(178;0.0511)	248					Q5TB39|Q5TB40|Q9NZB5|Q9P0I8|Q9P0I9	Missense_Mutation	SNP	ENST00000371748.5	37	c.757G>A	CCDS6994.1	.	.	.	.	.	.	.	.	.	.	C	18.95	3.731248	0.69189	.	.	ENSG00000107187	ENST00000371748;ENST00000371746;ENST00000325195	D;D	0.89746	-2.4;-2.56	3.28	3.28	0.37604	.	0.000000	0.85682	D	0.000000	D	0.90116	0.6912	L	0.51422	1.61	0.80722	D	1	D;P	0.56968	0.978;0.556	P;B	0.58266	0.836;0.14	D	0.88096	0.2816	10	0.26408	T	0.33	.	14.0485	0.64719	0.0:1.0:0.0:0.0	.	248;253	Q9UBR4;F1T0D9	LHX3_HUMAN;.	R	248;253;251	ENSP00000360813:G248R;ENSP00000360811:G253R	ENSP00000319224:G251R	G	-	1	0	LHX3	138230352	0.982000	0.34865	0.999000	0.59377	0.907000	0.53573	2.649000	0.46656	1.832000	0.53329	0.555000	0.69702	GGG		0.711	LHX3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000055048.3			9	15	0	0	0	1	0	9	15					T	139090531	C	T	139090531	3	4	74	1	0	0	0	0	1	0	0	0	8772	623	22	3	459	3	LHX3	9	139090531	Missense_Mutation	SNP	C	TCGA-EJ-5530-01A-01D-1576-08	1287474	139090531	2122900	40	3880											
ARHGAP21	57584	broad.mit.edu	37	chr10	24889811	24889811	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	caggtaaagtgaatgaccccGaaggacaacatacatctgtt	15	8	9	9	1	1	2	0	2	1	0	1	4	1	3	2	2	2	2	2	2	6	3	rs369698657		TCGA-EJ-5530-01A-01D-1576-08	TCGA-EJ-5530-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058daa8b-f3ee-4992-b05e-91c13d9945ec	b153654d-dc6f-4409-afb3-30fd935ea8b5	g.chr10:24889811G>A	ENST00000396432.2	-	14	3382	c.2896C>T	c.(2896-2898)Cgg>Tgg	p.R966W	ARHGAP21_ENST00000493154.1_Intron|ARHGAP21_ENST00000320481.6_Missense_Mutation_p.R753W	NM_020824.3	NP_065875.3	Q5T5U3	RHG21_HUMAN	Rho GTPase activating protein 21	965	Interaction with ARF1 and ARF6.|PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				establishment of Golgi localization (GO:0051683)|Golgi organization (GO:0007030)|maintenance of Golgi location (GO:0051684)|organelle transport along microtubule (GO:0072384)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)	p.R966W(1)|p.R965W(1)		NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1)	78						GAATGACCCCGAAGGACAACA	0.423																																						ENST00000396432.2																			2	Substitution - Missense(2)	p.R966W(1)|p.R965W(1)	prostate(2)	NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1)	78						c.(2896-2898)Cgg>Tgg		Rho GTPase activating protein 21		G	TRP/ARG	0,4406		0,0,2203	108	105	106		2896	5.5	1	10		106	1,8599	1.2+/-3.3	0,1,4299	no	missense	ARHGAP21	NM_020824.3	101	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	966/1959	24889811	1,13005	2203	4300	6503	SO:0001583	missense	57584				signal transduction	cell junction|cytoplasmic vesicle membrane|cytoskeleton|Golgi membrane	GTPase activator activity|protein binding	g.chr10:24889811G>A	AF480466	CCDS7144.2	10p12.31	2013-01-10			ENSG00000107863	ENSG00000107863		"Rho GTPase activating proteins", "Pleckstrin homology (PH) domain containing"	23725	protein-coding gene	gene with protein product		609870				12056806	Standard	NM_020824		Approved	KIAA1424, ARHGAP10	uc001isb.2	Q5T5U3	OTTHUMG00000017825	ENST00000396432.2:c.2896C>T	10.37:g.24889811G>A	ENSP00000379709:p.Arg966Trp					ARHGAP21_ENST00000493154.1_Intron|ARHGAP21_ENST00000320481.6_Missense_Mutation_p.R753W	p.R966W	NM_020824.3	NP_065875.3	Q5T5U3	RHG21_HUMAN			14	3382	-			965			Interaction with ARF1 and ARF6.|PH.		Q0VF98|Q7Z3P7|Q8N3A2|Q8NI19|Q8TBV5|Q9P2C3	Missense_Mutation	SNP	ENST00000396432.2	37	c.2896C>T	CCDS7144.2	.	.	.	.	.	.	.	.	.	.	G	23.0	4.361937	0.82353	0.0	1.16E-4	ENSG00000107863	ENST00000396432;ENST00000320481;ENST00000376410;ENST00000446003;ENST00000445703	T;T;T;T	0.77358	-1.09;-1.09;-1.09;-1.09	5.49	5.49	0.81192	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.121264	0.56097	D	0.000024	D	0.89591	0.6759	M	0.88704	2.975	0.52501	D	0.999959	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.996	D	0.91240	0.5021	10	0.87932	D	0	.	15.0346	0.71734	0.0:0.0:0.8573:0.1427	.	956;965	F8W9U9;Q5T5U3	.;RHG21_HUMAN	W	966;753;956;966;801	ENSP00000379709:R966W;ENSP00000365604:R753W;ENSP00000365592:R956W;ENSP00000405018:R966W	ENSP00000365604:R753W	R	-	1	2	ARHGAP21	24929817	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	3.817000	0.55668	2.571000	0.86741	0.655000	0.94253	CGG		0.423	ARHGAP21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047229.4	NM_020824		14	146	0	0	0	1	0	14	146					A	24889811	G	A	24889811	3	1	74	1	0	0	0	0	1	0	0	0	871	1057	37	2	3032	2	ARHGAP21	10	24889811	Missense_Mutation	SNP	G	TCGA-EJ-5530-01A-01D-1576-08		24889811	110644936	41	3881											
DUSP13	51207	broad.mit.edu	37	chr10	76854507	76854507	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaggaagcctgagttagggCagatattgcggtgggcctgc	8	8	18	7	1	0	2	0	1	0	1	0	4	0	4	2	5	3	2	2	5	3	3			TCGA-EJ-5530-01A-01D-1576-08	TCGA-EJ-5530-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058daa8b-f3ee-4992-b05e-91c13d9945ec	b153654d-dc6f-4409-afb3-30fd935ea8b5	g.chr10:76854507C>T	ENST00000472493.2	-	4	602	c.524G>A	c.(523-525)tGc>tAc	p.C175Y	DUSP13_ENST00000464872.1_Missense_Mutation_p.C124Y|DUSP13_ENST00000491677.2_Missense_Mutation_p.C304Y|DUSP13_ENST00000372700.3_Missense_Mutation_p.C225Y|DUSP13_ENST00000605915.1_Missense_Mutation_p.C197Y|DUSP13_ENST00000372702.3_3'UTR|DUSP13_ENST00000607131.1_Missense_Mutation_p.C268Y|DUSP13_ENST00000478873.2_Missense_Mutation_p.C311Y|DUSP13_ENST00000607009.1_5'Flank	NM_016364.3	NP_057448.3	Q9UII6	DS13B_HUMAN	dual specificity phosphatase 13	175	Tyrosine-protein phosphatase.				meiotic nuclear division (GO:0007126)|protein dephosphorylation (GO:0006470)|spermatogenesis (GO:0007283)		protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.C175Y(2)|p.C304Y(1)		large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1)	8	all_cancers(46;0.0207)|all_epithelial(25;0.00126)|Prostate(51;0.0112)|Ovarian(15;0.0348)					TGAGTTAGGGCAGATATTGCG	0.617																																					NSCLC(174;1655 2059 12324 40663 42963)	ENST00000491677.2																			3	Substitution - Missense(3)	p.C175Y(2)|p.C304Y(1)	prostate(3)	large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1)	8						c.(910-912)tGc>tAc		dual specificity phosphatase 13							84	65	72					10																	76854507		2203	4300	6503	SO:0001583	missense	0					cytoplasm	protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr10:76854507C>T	AB027004	CCDS7346.1, CCDS31224.1, CCDS53542.1	10q23.1	2013-10-25			ENSG00000079393	ENSG00000079393		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Atypical dual specificity phosphatases"	19681	protein-coding gene	gene with protein product		613191				10585869	Standard	XM_005269883		Approved	BEDP, TMDP, FLJ32450, DUSP13A, DUSP13B	uc001jwu.3	Q6B8I1	OTTHUMG00000018516	ENST00000472493.2:c.524G>A	10.37:g.76854507C>T	ENSP00000444580:p.Cys175Tyr					DUSP13_ENST00000372702.3_3'UTR|DUSP13_ENST00000372700.3_Missense_Mutation_p.C225Y|DUSP13_ENST00000605915.1_Missense_Mutation_p.C197Y|DUSP13_ENST00000607131.1_Missense_Mutation_p.C268Y|DUSP13_ENST00000464872.1_Missense_Mutation_p.C124Y|DUSP13_ENST00000478873.2_Missense_Mutation_p.C311Y|DUSP13_ENST00000472493.2_Missense_Mutation_p.C175Y	p.C304Y	NM_001007271.1	NP_001007272.1	Q6B8I1	MDSP_HUMAN			8	1453	-	all_cancers(46;0.0207)|all_epithelial(25;0.00126)|Prostate(51;0.0112)|Ovarian(15;0.0348)		166					A8K776|A8K782|B3KPY1|B3KXT0|B4DUK0|Q5JSC6|Q6IAR0|Q96GC2	Missense_Mutation	SNP	ENST00000472493.2	37	c.911G>A	CCDS7346.1	.	.	.	.	.	.	.	.	.	.	C	15.66	2.900078	0.52227	.	.	ENSG00000079393	ENST00000308475;ENST00000472493;ENST00000491677;ENST00000372698;ENST00000464872;ENST00000372700	T;T;T;T;T	0.60040	0.22;0.22;0.22;0.22;0.22	5.52	5.52	0.82312	Dual specificity phosphatase, catalytic domain (1);Dual specificity phosphatase, subgroup, catalytic domain (2);	0.224335	0.53938	D	0.000044	T	0.64338	0.2589	L	0.47190	1.495	0.39509	D	0.96833	D;D;D	0.71674	0.995;0.998;0.992	P;D;P	0.73708	0.847;0.981;0.871	T	0.59757	-0.7394	10	0.02654	T	1	-3.9628	14.3042	0.66375	0.1485:0.8515:0.0:0.0	.	225;304;175	Q9UII6-4;F2Z2C4;Q9UII6	.;.;DUS13_HUMAN	Y	175;175;304;268;124;225	ENSP00000311051:C175Y;ENSP00000444580:C175Y;ENSP00000436312:C304Y;ENSP00000434041:C124Y;ENSP00000361785:C225Y	ENSP00000311051:C175Y	C	-	2	0	DUSP13	76524513	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	1.520000	0.35899	2.586000	0.87340	0.655000	0.94253	TGC		0.617	DUSP13-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000048786.3			11	31	0	0	0	1	0	11	31					T	76854507	C	T	76854507	3	4	74	1	0	0	0	0	1	0	0	0	4813	710	25	3	76	3	DUSP13	10	76854507	Missense_Mutation	SNP	C	TCGA-EJ-5530-01A-01D-1576-08	51964696	76854507	58680240	42	3882											
KIF20B	9585	broad.mit.edu	37	chr10	91470871	91470871	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agagaaagaagaaattgctaGcaaaagtgcattgcttcggc	16	8	11	6	1	0	3	0	0	0	3	1	4	0	3	0	1	4	4	0	1	6	4	rs199753491		TCGA-EJ-5530-01A-01D-1576-08	TCGA-EJ-5530-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058daa8b-f3ee-4992-b05e-91c13d9945ec	b153654d-dc6f-4409-afb3-30fd935ea8b5	g.chr10:91470871G>A	ENST00000371728.3	+	6	709	c.644G>A	c.(643-645)aGc>aAc	p.S215N	KIF20B_ENST00000416354.1_Missense_Mutation_p.S215N|KIF20B_ENST00000260753.4_Missense_Mutation_p.S215N|KIF20B_ENST00000394289.2_Missense_Mutation_p.S215N	NM_001284259.1	NP_001271188.1	Q96Q89	KI20B_HUMAN	kinesin family member 20B	215	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|microtubule-based movement (GO:0007018)|mitotic nuclear division (GO:0007067)|neural tube closure (GO:0001843)|regulation of establishment of cell polarity (GO:2000114)|regulation of establishment of protein localization (GO:0070201)|regulation of mitosis (GO:0007088)|regulation of neuron migration (GO:2001222)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|WW domain binding (GO:0050699)	p.S215N(1)		endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	58						GAAATTGCTAGCAAAAGTGCA	0.313																																						ENST00000416354.1																			1	Substitution - Missense(1)	p.S215N(1)	prostate(1)	endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	58						c.(643-645)aGc>aAc		kinesin family member 20B		G	ASN/SER	0,4406		0,0,2203	66	72	70		644	-1.1	0.8	10		70	1,8597	1.2+/-3.3	0,1,4298	yes	missense	KIF20B	NM_016195.2	46	0,1,6501	AA,AG,GG		0.0116,0.0,0.0077	benign	215/1781	91470871	1,13003	2203	4299	6502	SO:0001583	missense	9585				cell cycle arrest|cell division|microtubule-based movement|mitosis|regulation of mitosis	centrosome|microtubule|nucleolus|nucleoplasm|spindle	ATP binding|ATPase activity|microtubule motor activity|WW domain binding	g.chr10:91470871G>A	L16782	CCDS7407.1, CCDS60590.1	10q23.31	2009-08-06	2008-07-31	2008-07-31	ENSG00000138182	ENSG00000138182			7212	protein-coding gene	gene with protein product	"cancer/testis antigen 90"	605498	"M-phase phosphoprotein 1"	MPHOSPH1		8885239, 8290587, 11470801	Standard	NM_016195		Approved	MPP1, KRMP1, CT90	uc001kgr.1	Q96Q89	OTTHUMG00000018725	ENST00000371728.3:c.644G>A	10.37:g.91470871G>A	ENSP00000360793:p.Ser215Asn					KIF20B_ENST00000260753.4_Missense_Mutation_p.S215N|KIF20B_ENST00000371728.3_Missense_Mutation_p.S215N|KIF20B_ENST00000394289.2_Missense_Mutation_p.S215N	p.S215N			Q96Q89	KI20B_HUMAN			6	716	+			215			Kinesin-motor.		A8MXM7|O43277|Q09471|Q2KQ73|Q32NE1|Q561V3|Q58EX8|Q5T9M8|Q5T9M9|Q5T9N0|Q5T9N1|Q7KZ68|Q7Z5E0|Q7Z5E1|Q7Z6M9|Q86X82|Q9H3R8|Q9H6Q9|Q9H755|Q9NTC1|Q9UFR5	Missense_Mutation	SNP	ENST00000371728.3	37	c.644G>A		.	.	.	.	.	.	.	.	.	.	G	8.637	0.894973	0.17613	0.0	1.16E-4	ENSG00000138182	ENST00000260753;ENST00000416354;ENST00000394289;ENST00000371728;ENST00000439656	T;T;T;T	0.40756	1.02;1.02;1.02;1.02	5.39	-1.07	0.09968	Kinesin, motor domain (4);	0.771653	0.11732	N	0.534807	T	0.21347	0.0514	N	0.19112	0.55	0.09310	N	1	B;B	0.28400	0.21;0.028	B;B	0.35240	0.198;0.159	T	0.27571	-1.0070	10	0.12430	T	0.62	0.2028	0.6716	0.00859	0.3331:0.1039:0.2334:0.3297	.	215;215	Q96Q89;Q96Q89-3	KI20B_HUMAN;.	N	215	ENSP00000260753:S215N;ENSP00000411545:S215N;ENSP00000377830:S215N;ENSP00000360793:S215N	ENSP00000260753:S215N	S	+	2	0	KIF20B	91460851	0.002000	0.14202	0.813000	0.32504	0.987000	0.75469	-0.043000	0.12043	-0.062000	0.13088	0.655000	0.94253	AGC		0.313	KIF20B-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000049330.1	NM_016195		11	130	0	0	0	1	0	11	130					A	91470871	G	A	91470871	3	1	74	1	0	0	0	0	1	0	0	0	8287	971	34	3	662	3	KIF20B	10	91470871	Missense_Mutation	SNP	G	TCGA-EJ-5530-01A-01D-1576-08	14616364	91470871	44063876	43	3883											
NELL1	4745	broad.mit.edu	37	chr11	21596534	21596534	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acagaatggaagagtctgttGttctgtggattttgagtgtc	9	15	13	4	0	2	3	0	1	2	2	3	5	2	5	0	2	0	2	0	2	2	4	rs370198210		TCGA-EJ-5530-01A-01D-1576-08	TCGA-EJ-5530-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058daa8b-f3ee-4992-b05e-91c13d9945ec	b153654d-dc6f-4409-afb3-30fd935ea8b5	g.chr11:21596534G>T	ENST00000357134.5	+	20	2551	c.2399G>T	c.(2398-2400)tGt>tTt	p.C800F	NELL1_ENST00000532434.1_Missense_Mutation_p.C753F|NELL1_ENST00000298925.5_Missense_Mutation_p.C828F|NELL1_ENST00000325319.5_Missense_Mutation_p.C743F|NELL1_ENST00000529218.1_3'UTR	NM_006157.3|NM_201551.1	NP_006148.2|NP_963845.1	Q92832	NELL1_HUMAN	NEL-like 1 (chicken)	800					cell differentiation (GO:0030154)|negative regulation of cyclin catabolic process (GO:2000599)|negative regulation of osteoblast proliferation (GO:0033689)|nervous system development (GO:0007399)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|regulation of gene expression (GO:0010468)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|nuclear envelope (GO:0005635)|perinuclear region of cytoplasm (GO:0048471)	calcium ion binding (GO:0005509)	p.C800F(1)		NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	70						AGAGTCTGTTGTTCTGTGGAT	0.358																																						ENST00000298925.5																			1	Substitution - Missense(1)	p.C800F(1)	prostate(1)	NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	70						c.(2482-2484)tGt>tTt		NEL-like 1 (chicken)		G	PHE/CYS,PHE/CYS	0,4406		0,0,2203	186	168	174		2399,2258	6.2	1	11		174	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	NELL1	NM_006157.3,NM_201551.1	205,205	0,1,6502	TT,TG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging	800/811,753/764	21596534	1,13005	2203	4300	6503	SO:0001583	missense	4745				cell adhesion|nervous system development	extracellular region	calcium ion binding|structural molecule activity	g.chr11:21596534G>T	AK127805	CCDS7855.1, CCDS44555.1, CCDS73267.1, CCDS73268.1	11p15.1	2008-02-01	2001-11-28		ENSG00000165973	ENSG00000165973			7750	protein-coding gene	gene with protein product		602319	"nel (chicken)-like 1"			8975702	Standard	NM_006157		Approved	IDH3GL, FLJ45906	uc001mqe.3	Q92832	OTTHUMG00000166042	ENST00000357134.5:c.2399G>T	11.37:g.21596534G>T	ENSP00000349654:p.Cys800Phe					NELL1_ENST00000325319.5_Missense_Mutation_p.C743F|NELL1_ENST00000532434.1_Missense_Mutation_p.C753F|NELL1_ENST00000357134.5_Missense_Mutation_p.C800F|NELL1_ENST00000529218.1_3'UTR	p.C828F			Q92832	NELL1_HUMAN			21	2636	+			800					B2CKC1|Q4VB90|Q4VB91|Q6NSY8|Q9Y472	Missense_Mutation	SNP	ENST00000357134.5	37	c.2483G>T	CCDS7855.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.304783	0.81247	0.0	1.16E-4	ENSG00000165973	ENST00000298925;ENST00000357134;ENST00000325319;ENST00000532434	T;T;T;T	0.80994	-1.43;-1.44;-1.32;-1.33	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	D	0.90366	0.6985	M	0.73962	2.25	0.80722	D	1	D;D;D;D;D	0.89917	0.998;0.996;0.998;1.0;0.996	D;P;D;D;P	0.97110	0.93;0.853;0.921;1.0;0.853	D	0.89891	0.4037	10	0.87932	D	0	-12.8009	20.8794	0.99867	0.0:0.0:1.0:0.0	.	743;828;345;753;800	F5H6I3;B3KXR2;Q8N9Z6;Q92832-2;Q92832	.;.;.;.;NELL1_HUMAN	F	828;800;743;753	ENSP00000298925:C828F;ENSP00000349654:C800F;ENSP00000317837:C743F;ENSP00000437170:C753F	ENSP00000298925:C828F	C	+	2	0	NELL1	21553110	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.916000	0.92745	2.941000	0.99782	0.655000	0.94253	TGT		0.358	NELL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387588.1	NM_006157		3	87	1	0	0.00024832	1	0.000268386	3	87					T	21596534	G	T	21596534	3	4	74	1	0	0	0	0	1	0	0	0	10333	1377	48	5	2477	5	NELL1	11	21596534	Missense_Mutation	SNP	G	TCGA-EJ-5530-01A-01D-1576-08		21596534	113409982	44	3884											
MADD	8567	broad.mit.edu	37	chr11	47345221	47345221	+	Splice_Site	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccgctttgtgcacttctccaGgtgtgcgatgactgtgtggt	4	14	13	10	2	1	1	0	1	1	0	2	2	1	1	2	2	2	2	2	2	0	2			TCGA-EJ-5530-01A-01D-1576-08	TCGA-EJ-5530-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058daa8b-f3ee-4992-b05e-91c13d9945ec	b153654d-dc6f-4409-afb3-30fd935ea8b5	g.chr11:47345221G>C	ENST00000311027.5	+	31	4542		c.e31-1		MADD_ENST00000395344.3_Splice_Site|MADD_ENST00000402799.1_Splice_Site|MADD_ENST00000406482.1_Splice_Site|MADD_ENST00000342922.4_Splice_Site|MADD_ENST00000405573.2_Splice_Site|MADD_ENST00000402192.2_Splice_Site|MADD_ENST00000395336.3_Splice_Site|MADD_ENST00000407859.3_Splice_Site|MADD_ENST00000349238.3_Splice_Site	NM_003682.3	NP_003673.3			MAP-kinase activating death domain									p.?(2)		breast(7)|central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(19)|lung(26)|ovary(6)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	84				Lung(87;0.182)		CACTTCTCCAGGTGTGCGATG	0.542																																						ENST00000342922.4																			2	Unknown(2)	p.?(2)	prostate(2)	breast(7)|central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(19)|lung(26)|ovary(6)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	84						c.e28-1		MAP-kinase activating death domain							177	129	145					11																	47345221		2201	4298	6499	SO:0001630	splice_region_variant	8567				activation of MAPK activity|apoptosis|cell surface receptor linked signaling pathway|regulation of apoptosis|regulation of cell cycle	cytoplasm|integral to membrane|plasma membrane	death receptor binding|protein kinase activator activity|Rab guanyl-nucleotide exchange factor activity	g.chr11:47345221G>C	AB002356	CCDS7930.1, CCDS7931.1, CCDS7932.1, CCDS41642.1, CCDS44586.1, CCDS44587.1, CCDS44588.1, CCDS44589.1, CCDS44590.1	11p11.2	2012-10-04			ENSG00000110514	ENSG00000110514		"DENN/MADD domain containing"	6766	protein-coding gene	gene with protein product		603584				9115275, 9796103	Standard	NM_130476		Approved	DENN, KIAA0358, RAB3GEP	uc001ner.1	Q8WXG6	OTTHUMG00000150350	ENST00000311027.5:c.4378-1G>C	11.37:g.47345221G>C						MADD_ENST00000406482.1_Splice_Site|MADD_ENST00000405573.2_Splice_Site|MADD_ENST00000402799.1_Splice_Site|MADD_ENST00000402192.2_Splice_Site|MADD_ENST00000395336.3_Splice_Site|MADD_ENST00000395344.3_Splice_Site|MADD_ENST00000407859.3_Splice_Site|MADD_ENST00000349238.3_Splice_Site|MADD_ENST00000311027.5_Splice_Site		NM_130470.2	NP_569826.2	Q8WXG6	MADD_HUMAN		Lung(87;0.182)	28	4557	+									Splice_Site	SNP	ENST00000311027.5	37		CCDS7930.1	.	.	.	.	.	.	.	.	.	.	G	18.77	3.695000	0.68386	.	.	ENSG00000110514	ENST00000342922;ENST00000395342;ENST00000402799;ENST00000406482;ENST00000349238;ENST00000311027;ENST00000407859;ENST00000395344;ENST00000395336;ENST00000402192;ENST00000405573	.	.	.	5.7	5.7	0.88788	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.903	0.96995	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	MADD	47301797	1.000000	0.71417	1.000000	0.80357	0.830000	0.47004	8.947000	0.93000	2.705000	0.92388	0.549000	0.68633	.		0.542	MADD-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317746.1		Intron	3	97	0	0	0	1	0	3	97					C	47345221	G	C	47345221	5	2	74	1	0	0	0	0	0	0	1	0	9152	1014	35	5	4495	5	MADD	11	47345221	Splice_Site	SNP	G	TCGA-EJ-5530-01A-01D-1576-08	25748687	47345221	87661295	45	3885											
OR5AS1	219447	broad.mit.edu	37	chr11	55798258	55798258	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tggcagcaatggcttatgacCgctatgcagccatctgcaac	10	9	10	12	1	1	1	0	1	1	0	1	1	1	1	2	2	5	6	2	2	4	2			TCGA-EJ-5530-01A-01D-1576-08	TCGA-EJ-5530-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058daa8b-f3ee-4992-b05e-91c13d9945ec	b153654d-dc6f-4409-afb3-30fd935ea8b5	g.chr11:55798258C>T	ENST00000313555.1	+	1	364	c.364C>T	c.(364-366)Cgc>Tgc	p.R122C		NM_001001921.1	NP_001001921.1	Q8N127	O5AS1_HUMAN	olfactory receptor, family 5, subfamily AS, member 1	122			R -> L (in dbSNP:rs12224086).			integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R122C(3)		endometrium(7)|large_intestine(7)|liver(1)|lung(22)|ovary(3)|prostate(4)|skin(3)|stomach(1)	48	Esophageal squamous(21;0.00693)					GGCTTATGACCGCTATGCAGC	0.458																																						ENST00000313555.1																			3	Substitution - Missense(3)	p.R122C(3)	prostate(1)|lung(1)|endometrium(1)	endometrium(7)|large_intestine(7)|liver(1)|lung(22)|ovary(3)|prostate(4)|skin(3)|stomach(1)	48						c.(364-366)Cgc>Tgc		olfactory receptor, family 5, subfamily AS, member 1							131	107	115					11																	55798258		2201	4296	6497	SO:0001583	missense	219447				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55798258C>T	AB065543	CCDS31516.1	11q11	2012-08-09			ENSG00000181785	ENSG00000181785		"GPCR / Class A : Olfactory receptors"	15261	protein-coding gene	gene with protein product							Standard	NM_001001921		Approved		uc010riw.2	Q8N127	OTTHUMG00000166830	ENST00000313555.1:c.364C>T	11.37:g.55798258C>T	ENSP00000324111:p.Arg122Cys						p.R122C	NM_001001921.1	NP_001001921.1	Q8N127	O5AS1_HUMAN			1	364	+	Esophageal squamous(21;0.00693)		122		R -> L (in dbSNP:rs12224086).			Q6IFB8	Missense_Mutation	SNP	ENST00000313555.1	37	c.364C>T	CCDS31516.1	.	.	.	.	.	.	.	.	.	.	C	11.44	1.639971	0.29157	.	.	ENSG00000181785	ENST00000313555	T	0.77358	-1.09	5.46	5.46	0.80206	GPCR, rhodopsin-like superfamily (1);	0.224065	0.22821	U	0.055229	T	0.77772	0.4180	M	0.79123	2.44	0.43471	D	0.995682	B	0.33135	0.399	B	0.23275	0.045	T	0.79867	-0.1622	10	0.72032	D	0.01	.	17.8641	0.88791	0.0:1.0:0.0:0.0	.	122	Q8N127	O5AS1_HUMAN	C	122	ENSP00000324111:R122C	ENSP00000324111:R122C	R	+	1	0	OR5AS1	55554834	0.508000	0.26154	1.000000	0.80357	0.157000	0.22087	0.829000	0.27449	2.557000	0.86248	0.643000	0.83706	CGC		0.458	OR5AS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391538.1	NM_001001921		11	127	0	0	0	1	0	11	127					T	55798258	C	T	55798258	3	4	74	1	0	0	0	0	1	0	0	0	11146	652	23	2	366	2	OR5AS1	11	55798258	Missense_Mutation	SNP	C	TCGA-EJ-5530-01A-01D-1576-08	8453037	55798258	79208258	46	3886											
SPDYC	387778	broad.mit.edu	37	chr11	64939787	64939787	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcgagtatacccacagcaGcctgttcttggccctgtgag	8	9	11	13	1	1	1	0	1	1	0	1	2	1	1	3	1	4	3	3	1	2	4			TCGA-EJ-5530-01A-01D-1576-08	TCGA-EJ-5530-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058daa8b-f3ee-4992-b05e-91c13d9945ec	b153654d-dc6f-4409-afb3-30fd935ea8b5	g.chr11:64939787G>A	ENST00000377185.2	+	4	411	c.329G>A	c.(328-330)aGc>aAc	p.S110N	AP003068.18_ENST00000534819.1_RNA	NM_001008778.1	NP_001008778.1			speedy/RINGO cell cycle regulator family member C									p.S110N(1)		breast(1)|endometrium(3)|large_intestine(2)|lung(9)|prostate(1)	16						ACCCACAGCAGCCTGTTCTTG	0.612																																						ENST00000377185.2																			1	Substitution - Missense(1)	p.S110N(1)	prostate(1)	breast(1)|endometrium(3)|large_intestine(2)|lung(9)|prostate(1)	16						c.(328-330)aGc>aAc		speedy/RINGO cell cycle regulator family member C							87	82	83					11																	64939787		2201	4297	6498	SO:0001583	missense	387778				cell cycle	nucleus	protein kinase binding	g.chr11:64939787G>A	AY820305	CCDS31606.1	11q13.1	2013-05-08	2013-05-08		ENSG00000204710	ENSG00000204710		"Speedy homologs"	32681	protein-coding gene	gene with protein product		614030	"speedy homolog C (Xenopus laevis)"			15611625	Standard	NM_001008778		Approved	Ringo2	uc010rnz.2	Q5MJ68	OTTHUMG00000165611	ENST00000377185.2:c.329G>A	11.37:g.64939787G>A	ENSP00000366390:p.Ser110Asn						p.S110N	NM_001008778.1	NP_001008778.1	Q5MJ68	SPDYC_HUMAN			4	411	+			110			Speedy/Ringo box; Required for CDK- binding (By similarity).			Missense_Mutation	SNP	ENST00000377185.2	37	c.329G>A	CCDS31606.1	.	.	.	.	.	.	.	.	.	.	G	0.904	-0.721339	0.03182	.	.	ENSG00000204710	ENST00000377185	.	.	.	4.17	-2.39	0.06602	.	0.125508	0.31347	N	0.007806	T	0.03783	0.0107	N	0.00044	-2.455	0.23210	N	0.998117	B	0.06786	0.001	B	0.04013	0.001	T	0.41520	-0.9504	9	0.02654	T	1	.	9.3647	0.38217	0.5459:0.0:0.4541:0.0	.	110	Q5MJ68	SPDYC_HUMAN	N	110	.	ENSP00000366390:S110N	S	+	2	0	SPDYC	64696363	0.989000	0.36119	0.002000	0.10522	0.948000	0.59901	2.019000	0.41001	-0.719000	0.04942	-0.793000	0.03317	AGC		0.612	SPDYC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385299.1	NM_001008778		10	113	0	0	0	1	0	10	113					A	64939787	G	A	64939787	3	1	74	1	0	0	0	0	1	0	0	0	15027	971	34	3	343	3	SPDYC	11	64939787	Missense_Mutation	SNP	G	TCGA-EJ-5530-01A-01D-1576-08	9141529	64939787	70066729	47	3887											
RBMS2	5939	broad.mit.edu	37	chr12	56963707	56963707	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggctttgtagattttgacaGcccttcagcagcacagaaag	11	11	10	9	0	1	3	1	1	0	2	1	3	1	3	1	1	3	4	1	1	2	5			TCGA-EJ-5530-01A-01D-1576-08	TCGA-EJ-5530-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058daa8b-f3ee-4992-b05e-91c13d9945ec	b153654d-dc6f-4409-afb3-30fd935ea8b5	g.chr12:56963707G>A	ENST00000262031.5	+	4	412	c.317G>A	c.(316-318)aGc>aAc	p.S106N	RBMS2_ENST00000549945.1_3'UTR|RBMS2_ENST00000550726.1_5'UTR|RBMS2_ENST00000552247.2_Missense_Mutation_p.S106N|RBMS2_ENST00000542360.1_5'UTR	NM_002898.3	NP_002889.1	Q15434	RBMS2_HUMAN	RNA binding motif, single stranded interacting protein 2	106	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				RNA processing (GO:0006396)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.S106N(1)		breast(1)|endometrium(1)|large_intestine(2)|lung(8)|prostate(3)|skin(2)|urinary_tract(1)	18						GATTTTGACAGCCCTTCAGCA	0.512																																						ENST00000262031.5																			1	Substitution - Missense(1)	p.S106N(1)	prostate(1)	breast(1)|endometrium(1)|large_intestine(2)|lung(8)|prostate(3)|skin(2)|urinary_tract(1)	18						c.(316-318)aGc>aAc		RNA binding motif, single stranded interacting protein 2							131	110	117					12																	56963707		2203	4300	6503	SO:0001583	missense	5939				RNA processing	nucleus	nucleotide binding|RNA binding	g.chr12:56963707G>A	D28483	CCDS8923.1	12q13.13	2013-02-12			ENSG00000076067	ENSG00000076067		"RNA binding motif (RRM) containing"	9909	protein-coding gene	gene with protein product		602387				8041632	Standard	NM_002898		Approved	SCR3	uc001sln.2	Q15434	OTTHUMG00000170488	ENST00000262031.5:c.317G>A	12.37:g.56963707G>A	ENSP00000262031:p.Ser106Asn					RBMS2_ENST00000552247.2_Missense_Mutation_p.S106N|RBMS2_ENST00000542360.1_5'UTR|RBMS2_ENST00000549945.1_3'UTR|RBMS2_ENST00000550726.1_5'UTR	p.S106N	NM_002898.3	NP_002889.1	Q15434	RBMS2_HUMAN			4	412	+			106			RRM 1.			Missense_Mutation	SNP	ENST00000262031.5	37	c.317G>A	CCDS8923.1	.	.	.	.	.	.	.	.	.	.	G	19.27	3.794692	0.70452	.	.	ENSG00000076067	ENST00000262031;ENST00000552247	T;T	0.36699	3.32;1.24	4.98	4.98	0.66077	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	T	0.32645	0.0836	L	0.28694	0.88	0.80722	D	1	B	0.33477	0.413	B	0.36418	0.224	T	0.19160	-1.0314	10	0.56958	D	0.05	.	17.4061	0.87474	0.0:0.0:1.0:0.0	.	106	Q15434	RBMS2_HUMAN	N	106	ENSP00000262031:S106N;ENSP00000447426:S106N	ENSP00000262031:S106N	S	+	2	0	RBMS2	55249974	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.235000	0.95353	2.500000	0.84329	0.650000	0.86243	AGC		0.512	RBMS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409366.2	NM_002898		3	139	0	0	0	1	0	3	139					A	56963707	G	A	56963707	3	1	74	1	0	0	0	0	1	0	0	0	13149	971	34	3	331	3	RBMS2	12	56963707	Missense_Mutation	SNP	G	TCGA-EJ-5530-01A-01D-1576-08		56963707	76888188	48	3888											
B4GALNT1	2583	broad.mit.edu	37	chr12	58022636	58022636	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agcccgtagccgatcataacGgaggaaggtcttggtggcaa	11	7	14	9	3	2	0	1	0	1	0	2	3	2	2	2	5	3	2	2	5	4	3			TCGA-EJ-5530-01A-01D-1576-08	TCGA-EJ-5530-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058daa8b-f3ee-4992-b05e-91c13d9945ec	b153654d-dc6f-4409-afb3-30fd935ea8b5	g.chr12:58022636G>T	ENST00000341156.4	-	8	1446	c.862C>A	c.(862-864)Cgt>Agt	p.R288S	B4GALNT1_ENST00000449184.3_Missense_Mutation_p.R255S|B4GALNT1_ENST00000550943.1_5'Flank|B4GALNT1_ENST00000418555.2_Missense_Mutation_p.R233S	NM_001478.3	NP_001469.1	Q00973	B4GN1_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 1	288					carbohydrate metabolic process (GO:0005975)|cell death (GO:0008219)|ganglioside biosynthetic process (GO:0001574)|glycosphingolipid metabolic process (GO:0006687)|lipid glycosylation (GO:0030259)|lipid storage (GO:0019915)|protein glycosylation (GO:0006486)|spermatogenesis (GO:0007283)	integral component of Golgi membrane (GO:0030173)|membrane (GO:0016020)|plasma membrane (GO:0005886)	(N-acetylneuraminyl)-galactosylglucosylceramide N-acetylgalactosaminyltransferase activity (GO:0003947)	p.R288S(1)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|urinary_tract(1)	20	Melanoma(17;0.122)		BRCA - Breast invasive adenocarcinoma(9;0.109)			CGATCATAACGGAGGAAGGTC	0.582																																						ENST00000341156.4																			1	Substitution - Missense(1)	p.R288S(1)	prostate(1)	breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|urinary_tract(1)	20						c.(862-864)Cgt>Agt		beta-1,4-N-acetyl-galactosaminyl transferase 1							84	76	79					12																	58022636		2203	4300	6503	SO:0001583	missense	2583				lipid glycosylation	integral to Golgi membrane|membrane fraction	(N-acetylneuraminyl)-galactosylglucosylceramide N-acetylgalactosaminyltransferase activity	g.chr12:58022636G>T	M83651	CCDS8950.1, CCDS61170.1, CCDS61171.1	12q13.3	2013-09-11	2006-01-08	2006-01-08	ENSG00000135454	ENSG00000135454	2.4.1.92	"Beta 4-glycosyltransferases", "Glycosyltransferase family 2 domain containing"	4117	protein-coding gene	gene with protein product	"GD2 synthase, GM2 synthase"	601873	"UDP-N-acetyl-alpha-D-galactosamine:(N-acetylneuraminyl)-galactosylglucosylceramide N-acetylgalactosaminyltransferase (GalNAc-T)", "UDP-Gal:betaGlcNAc beta-1,4-N-acetylgalactosaminyltransferase transferase 1", "spastic paraplegia 26"	GALGT, SPG26		1601877, 23746551	Standard	NM_001478		Approved	beta1-4GalNAc-T	uc001spg.2	Q00973	OTTHUMG00000170190	ENST00000341156.4:c.862C>A	12.37:g.58022636G>T	ENSP00000341562:p.Arg288Ser					B4GALNT1_ENST00000418555.2_Missense_Mutation_p.R233S|B4GALNT1_ENST00000449184.3_Missense_Mutation_p.R255S	p.R288S	NM_001478.3	NP_001469.1	Q00973	B4GN1_HUMAN	BRCA - Breast invasive adenocarcinoma(9;0.109)		8	1446	-	Melanoma(17;0.122)		288					B4DE26|Q8N636	Missense_Mutation	SNP	ENST00000341156.4	37	c.862C>A	CCDS8950.1	.	.	.	.	.	.	.	.	.	.	.	29.4	5.006543	0.93287	.	.	ENSG00000135454	ENST00000341156;ENST00000418555	T;T	0.62941	-0.01;-0.01	5.04	4.13	0.48395	Glycosyl transferase, family 2 (1);	0.056620	0.64402	D	0.000001	D	0.82549	0.5061	M	0.91038	3.17	0.80722	D	1	P;D;D	0.89917	0.904;0.975;1.0	P;P;D	0.97110	0.593;0.84;1.0	D	0.86881	0.2042	10	0.87932	D	0	-7.6713	14.3471	0.66675	0.0:0.1497:0.8503:0.0	.	255;233;288	B4DSP5;B4DE26;Q00973	.;.;B4GN1_HUMAN	S	288;233	ENSP00000341562:R288S;ENSP00000401601:R233S	ENSP00000341562:R288S	R	-	1	0	B4GALNT1	56308903	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.118000	0.94355	1.335000	0.45486	0.655000	0.94253	CGT		0.582	B4GALNT1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407853.1	NM_001478		3	69	1	0	1	1	1	3	69					T	58022636	G	T	58022636	3	4	74	1	0	0	0	0	1	0	0	0	1266	1116	39	5	755	5	B4GALNT1	12	58022636	Missense_Mutation	SNP	G	TCGA-EJ-5530-01A-01D-1576-08	1058929	58022636	75829259	49	3889											
FNDC3A	22862	broad.mit.edu	37	chr13	49776084	49776084	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttcactactccaaaatctGtcccagctgccttgaaaggt	10	13	6	12	0	2	1	1	1	1	0	4	1	4	1	3	1	3	1	3	1	4	4			TCGA-EJ-5530-01A-01D-1576-08	TCGA-EJ-5530-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058daa8b-f3ee-4992-b05e-91c13d9945ec	b153654d-dc6f-4409-afb3-30fd935ea8b5	g.chr13:49776084G>T	ENST00000492622.2	+	24	3441	c.3136G>T	c.(3136-3138)Gtc>Ttc	p.V1046F	FNDC3A_ENST00000398316.3_Missense_Mutation_p.V990F|FNDC3A_ENST00000541916.1_Missense_Mutation_p.V1046F	NM_001079673.1	NP_001073141.1	Q9Y2H6	FND3A_HUMAN	fibronectin type III domain containing 3A	1046	Fibronectin type-III 9. {ECO:0000255|PROSITE-ProRule:PRU00316}.				fertilization (GO:0009566)|Sertoli cell development (GO:0060009)|single organismal cell-cell adhesion (GO:0016337)|spermatid development (GO:0007286)	acrosomal vesicle (GO:0001669)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|vesicle membrane (GO:0012506)	poly(A) RNA binding (GO:0044822)	p.V1046F(1)		endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|prostate(5)|skin(2)|urinary_tract(1)	41		all_lung(13;7.44e-08)|Lung NSC(96;4.08e-06)|Breast(56;0.000111)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;2.94e-09)		TCCAAAATCTGTCCCAGCTGC	0.318																																						ENST00000492622.2																			1	Substitution - Missense(1)	p.V1046F(1)	prostate(1)	endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|prostate(5)|skin(2)|urinary_tract(1)	41						c.(3136-3138)Gtc>Ttc		fibronectin type III domain containing 3A							72	74	73					13																	49776084		2203	4300	6503	SO:0001583	missense	22862					Golgi membrane|integral to membrane		g.chr13:49776084G>T	AB023187	CCDS9413.2, CCDS41886.1	13q14.12	2013-02-11	2005-01-20	2005-01-22	ENSG00000102531	ENSG00000102531		"Fibronectin type III domain containing"	20296	protein-coding gene	gene with protein product		615794	"fibronectin type III domain containing 3"	FNDC3			Standard	NM_001079673		Approved	bA203I16.5, KIAA0970	uc001vcm.3	Q9Y2H6	OTTHUMG00000016911	ENST00000492622.2:c.3136G>T	13.37:g.49776084G>T	ENSP00000417257:p.Val1046Phe					FNDC3A_ENST00000541916.1_Missense_Mutation_p.V1046F|FNDC3A_ENST00000398316.3_Missense_Mutation_p.V990F	p.V1046F	NM_001079673.1	NP_001073141.1	Q9Y2H6	FND3A_HUMAN	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;2.94e-09)	24	3441	+		all_lung(13;7.44e-08)|Lung NSC(96;4.08e-06)|Breast(56;0.000111)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|Lung SC(185;0.187)|all_neural(104;0.19)	1046					B4DYG1|Q5HYC9|Q5JVF8|Q5JVF9|Q6EVH3|Q6EVH4|Q6N020|Q6P9D5|Q6ZME4|Q9H1W1	Missense_Mutation	SNP	ENST00000492622.2	37	c.3136G>T	CCDS41886.1	.	.	.	.	.	.	.	.	.	.	G	14.91	2.675901	0.47886	.	.	ENSG00000102531	ENST00000492622;ENST00000337156;ENST00000541916;ENST00000398316	T;T;T	0.56444	0.46;0.46;0.46	6.16	5.31	0.75309	Fibronectin, type III (1);Immunoglobulin-like fold (1);	0.211286	0.32287	N	0.006309	T	0.54415	0.1857	L	0.59436	1.845	0.40073	D	0.97603	B;B	0.28667	0.219;0.139	B;B	0.34722	0.188;0.092	T	0.56195	-0.8019	10	0.49607	T	0.09	-5.9102	15.2966	0.73913	0.0:0.2636:0.7364:0.0	.	990;1046	Q9Y2H6-2;Q9Y2H6	.;FND3A_HUMAN	F	1046;982;1046;990	ENSP00000417257:V1046F;ENSP00000441831:V1046F;ENSP00000381362:V990F	ENSP00000338579:V982F	V	+	1	0	FNDC3A	48674085	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.087000	0.50167	1.597000	0.50072	0.650000	0.86243	GTC		0.318	FNDC3A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354845.2	NM_014923		7	167	1	0	0.0381472	1	0.0396287	7	167					T	49776084	G	T	49776084	3	4	74	1	0	0	0	0	1	0	0	0	5969	1377	48	5	3237	5	FNDC3A	13	49776084	Missense_Mutation	SNP	G	TCGA-EJ-5530-01A-01D-1576-08		49776084	65393794	50	3890											
PCDH17	27253	broad.mit.edu	37	chr13	58299273	58299273	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atgtgcattccagagccagcCgggattccagtgagatgggt	9	9	14	9	1	0	2	0	1	0	2	2	4	2	3	4	2	3	1	4	2	0	2			TCGA-EJ-5530-01A-01D-1576-08	TCGA-EJ-5530-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058daa8b-f3ee-4992-b05e-91c13d9945ec	b153654d-dc6f-4409-afb3-30fd935ea8b5	g.chr13:58299273C>T	ENST00000377918.3	+	4	3351	c.3325C>T	c.(3325-3327)Cgg>Tgg	p.R1109W		NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN	protocadherin 17	1109					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.R1109W(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		CAGAGCCAGCCGGGATTCCAG	0.522																																					Melanoma(72;952 1291 1619 12849 33676)	ENST00000377918.3																			1	Substitution - Missense(1)	p.R1109W(1)	prostate(1)	breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120						c.(3325-3327)Cgg>Tgg		protocadherin 17							156	158	157					13																	58299273		2203	4300	6503	SO:0001583	missense	27253				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding	g.chr13:58299273C>T	AF029343	CCDS31986.1	13q21.1	2010-01-26			ENSG00000118946	ENSG00000118946		"Cadherins / Protocadherins : Non-clustered"	14267	protein-coding gene	gene with protein product		611760				10835267	Standard	NM_001040429		Approved	PCDH68, PCH68	uc001vhq.1	O14917	OTTHUMG00000016992	ENST00000377918.3:c.3325C>T	13.37:g.58299273C>T	ENSP00000367151:p.Arg1109Trp						p.R1109W	NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN		GBM - Glioblastoma multiforme(99;1.06e-05)	4	3351	+		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)	1109					A8K1R5|Q5VVW9|Q5VVX0	Missense_Mutation	SNP	ENST00000377918.3	37	c.3325C>T	CCDS31986.1	.	.	.	.	.	.	.	.	.	.	C	13.89	2.372560	0.42003	.	.	ENSG00000118946	ENST00000377918	T	0.53206	0.63	6.07	5.21	0.72293	.	0.061511	0.64402	D	0.000002	T	0.41511	0.1162	N	0.22421	0.69	0.51233	D	0.999916	D	0.69078	0.997	P	0.47470	0.548	T	0.22068	-1.0227	9	.	.	.	.	16.3571	0.83239	0.1367:0.8633:0.0:0.0	.	1109	O14917	PCD17_HUMAN	W	1109	ENSP00000367151:R1109W	.	R	+	1	2	PCDH17	57197274	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.801000	0.55545	1.515000	0.48885	0.655000	0.94253	CGG		0.522	PCDH17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045139.1	NM_001040429		12	285	0	0	0	1	0	12	285					T	58299273	C	T	58299273	3	4	74	1	0	0	0	0	1	0	0	0	11512	643	23	2	3339	2	PCDH17	13	58299273	Missense_Mutation	SNP	C	TCGA-EJ-5530-01A-01D-1576-08	8523189	58299273	56870605	51	3891											
SLC10A2	6555	broad.mit.edu	37	chr13	103698541	103698541	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaaacgatgactctggctccGttccattttctttgctctct	7	16	6	12	2	3	1	0	1	3	0	6	2	5	1	2	1	2	3	2	1	2	4			TCGA-EJ-5530-01A-01D-1576-08	TCGA-EJ-5530-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058daa8b-f3ee-4992-b05e-91c13d9945ec	b153654d-dc6f-4409-afb3-30fd935ea8b5	g.chr13:103698541G>A	ENST00000245312.3	-	6	1585	c.989C>T	c.(988-990)aCg>aTg	p.T330M		NM_000452.2	NP_000443	Q12908	NTCP2_HUMAN	solute carrier family 10 (sodium/bile acid cotransporter), member 2	330					bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|integral component of plasma membrane (GO:0005887)|microvillus (GO:0005902)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|proteasome complex (GO:0000502)	bile acid:sodium symporter activity (GO:0008508)	p.T330M(1)		breast(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_neural(89;0.0662)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)				Aciclovir(DB00787)|Cyclosporine(DB00091)|Ursodeoxycholic acid(DB01586)|Valaciclovir(DB00577)	CTCTGGCTCCGTTCCATTTTC	0.373																																						ENST00000245312.3																			1	Substitution - Missense(1)	p.T330M(1)	prostate(1)	breast(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						c.(988-990)aCg>aTg		solute carrier family 10 (sodium/bile acid cotransporter), member 2							144	122	130					13																	103698541		2203	4300	6503	SO:0001583	missense	6555				bile acid metabolic process|organic anion transport	integral to plasma membrane	bile acid:sodium symporter activity	g.chr13:103698541G>A	U10417	CCDS9506.1	13q33	2013-07-18	2013-07-18		ENSG00000125255	ENSG00000125255		"Solute carriers"	10906	protein-coding gene	gene with protein product		601295		ASBT, ISBT		8661017	Standard	NM_000452		Approved		uc001vpy.4	Q12908	OTTHUMG00000017313	ENST00000245312.3:c.989C>T	13.37:g.103698541G>A	ENSP00000245312:p.Thr330Met						p.T330M	NM_000452.2	NP_000443.1	Q12908	NTCP2_HUMAN			6	1585	-	all_neural(89;0.0662)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)		330					A1L4F4|Q13839	Missense_Mutation	SNP	ENST00000245312.3	37	c.989C>T	CCDS9506.1	.	.	.	.	.	.	.	.	.	.	G	8.179	0.793384	0.16327	.	.	ENSG00000125255	ENST00000245312	T	0.08634	3.07	5.64	0.843	0.18935	.	0.793165	0.12443	N	0.468447	T	0.04679	0.0127	N	0.19112	0.55	0.09310	N	1	B	0.20780	0.048	B	0.20384	0.029	T	0.43081	-0.9413	10	0.30078	T	0.28	-34.0746	3.3262	0.07067	0.2621:0.0:0.4324:0.3055	.	330	Q12908	NTCP2_HUMAN	M	330	ENSP00000245312:T330M	ENSP00000245312:T330M	T	-	2	0	SLC10A2	102496542	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.079000	0.11357	-0.051000	0.13334	-0.735000	0.03563	ACG		0.373	SLC10A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045716.1			4	106	0	0	0	1	0	4	106					A	103698541	G	A	103698541	3	1	74	1	0	0	0	0	1	0	0	0	14374	1145	40	1	61	1	SLC10A2	13	103698541	Missense_Mutation	SNP	G	TCGA-EJ-5530-01A-01D-1576-08	45399268	103698541	11471337	52	3892											
NUBPL	80224	broad.mit.edu	37	chr14	32295838	32295838	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgtttatctttggctaggtgCtgtgattgtctccacgcccc	4	16	10	11	1	2	1	0	1	2	0	3	1	2	1	3	2	1	3	3	2	2	5			TCGA-EJ-5530-01A-01D-1576-08	TCGA-EJ-5530-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058daa8b-f3ee-4992-b05e-91c13d9945ec	b153654d-dc6f-4409-afb3-30fd935ea8b5	g.chr14:32295838C>T	ENST00000281081.7	+	8	656	c.611C>T	c.(610-612)gCt>gTt	p.A204V	NUBPL_ENST00000536705.1_Missense_Mutation_p.A108V|NUBPL_ENST00000418681.2_3'UTR	NM_001201573.1|NM_001201574.1|NM_025152.2	NP_001188502.1|NP_001188503.1|NP_079428.2	Q8TB37	NUBPL_HUMAN	nucleotide binding protein-like	204					mitochondrial respiratory chain complex I assembly (GO:0032981)|mitochondrion morphogenesis (GO:0070584)	mitochondrion (GO:0005739)	4 iron, 4 sulfur cluster binding (GO:0051539)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)	p.A174V(1)		endometrium(1)|lung(2)|prostate(1)|skin(1)	5	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.214)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0677)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.0102)		TGGCTAGGTGCTGTGATTGTC	0.428																																						ENST00000281081.7																			1	Substitution - Missense(1)	p.A174V(1)	prostate(1)	endometrium(1)|lung(2)|prostate(1)|skin(1)	5						c.(610-612)gCt>gTt		nucleotide binding protein-like							82	77	79					14																	32295838		1977	4170	6147	SO:0001583	missense	80224				mitochondrial respiratory chain complex I assembly|mitochondrion morphogenesis	mitochondrion	4 iron, 4 sulfur cluster binding|ATP binding|metal ion binding	g.chr14:32295838C>T	AK022722	CCDS41940.1	14q12	2012-10-12	2005-01-07	2005-01-07	ENSG00000151413	ENSG00000151413		"Mitochondrial respiratory chain complex assembly factors"	20278	protein-coding gene	gene with protein product	"iron-sulfur protein required for NADH dehydrogenase"	613621	"chromosome 14 open reading frame 127"	C14orf127			Standard	NM_025152		Approved	FLJ12660, IND1, huInd1	uc001wrk.4	Q8TB37	OTTHUMG00000170521	ENST00000281081.7:c.611C>T	14.37:g.32295838C>T	ENSP00000281081:p.Ala204Val					NUBPL_ENST00000536705.1_Missense_Mutation_p.A108V|NUBPL_ENST00000418681.2_3'UTR	p.A204V	NM_001201573.1|NM_001201574.1|NM_025152.2	NP_001188502.1|NP_001188503.1|NP_079428.2	Q8TB37	NUBPL_HUMAN	LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0677)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.0102)	8	656	+	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.214)		204					B4DHZ1|Q86TZ4|Q9H9M2	Missense_Mutation	SNP	ENST00000281081.7	37	c.611C>T	CCDS41940.1	.	.	.	.	.	.	.	.	.	.	C	16.02	3.004636	0.54254	.	.	ENSG00000151413	ENST00000281081;ENST00000536705	T;T	0.36520	1.25;1.25	5.45	5.45	0.79879	.	0.000000	0.85682	D	0.000000	T	0.43942	0.1270	M	0.68952	2.095	0.53688	D	0.999977	B;B	0.23591	0.055;0.088	B;B	0.30943	0.122;0.107	T	0.41698	-0.9494	10	0.87932	D	0	-30.0473	17.143	0.86759	0.0:1.0:0.0:0.0	.	108;204	B4DWB0;Q8TB37	.;NUBPL_HUMAN	V	204;108	ENSP00000281081:A204V;ENSP00000439286:A108V	ENSP00000281081:A204V	A	+	2	0	NUBPL	31365589	1.000000	0.71417	1.000000	0.80357	0.651000	0.38670	5.493000	0.66899	2.719000	0.93026	0.484000	0.47621	GCT		0.428	NUBPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409519.1	NM_025152		24	94	0	0	0	1	0	24	94					T	32295838	C	T	32295838	3	4	74	1	0	0	0	0	1	0	0	0	10717	797	28	3	641	3	NUBPL	14	32295838	Missense_Mutation	SNP	C	TCGA-EJ-5530-01A-01D-1576-08		32295838	75053702	53	3893											
DACT1	51339	broad.mit.edu	37	chr14	59113436	59113436	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagggcccggcgcggtcgcCgggagaatgtggggctgtac	5	5	21	10	5	0	1	0	0	0	1	1	3	0	2	2	7	1	2	2	7	2	1	rs370918124		TCGA-EJ-5530-01A-01D-1576-08	TCGA-EJ-5530-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058daa8b-f3ee-4992-b05e-91c13d9945ec	b153654d-dc6f-4409-afb3-30fd935ea8b5	g.chr14:59113436C>T	ENST00000335867.4	+	4	2119	c.2095C>T	c.(2095-2097)Cgg>Tgg	p.R699W	DACT1_ENST00000395153.3_Missense_Mutation_p.R662W|DACT1_ENST00000556859.1_Missense_Mutation_p.R418W|DACT1_ENST00000541264.2_Missense_Mutation_p.R418W			Q9NYF0	DACT1_HUMAN	dishevelled-binding antagonist of beta-catenin 1	699					dendrite morphogenesis (GO:0048813)|embryonic hindgut morphogenesis (GO:0048619)|gastrulation with mouth forming second (GO:0001702)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of JNK cascade (GO:0046329)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of Wnt signaling pathway (GO:0030178)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of catenin import into nucleus (GO:0035412)|regulation of protein stability (GO:0031647)|regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000095)|synapse organization (GO:0050808)|Wnt signaling pathway (GO:0016055)	beta-catenin destruction complex (GO:0030877)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|synapse (GO:0045202)	beta-catenin binding (GO:0008013)|delta-catenin binding (GO:0070097)|protein kinase A binding (GO:0051018)|protein kinase C binding (GO:0005080)	p.R699W(1)		endometrium(7)|kidney(3)|large_intestine(11)|lung(27)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	53						GCGCGGTCGCCGGGAGAATGT	0.667																																						ENST00000395153.3																			1	Substitution - Missense(1)	p.R699W(1)	prostate(1)	endometrium(7)|kidney(3)|large_intestine(11)|lung(27)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	53						c.(1984-1986)Cgg>Tgg		dishevelled-binding antagonist of beta-catenin 1		C	TRP/ARG,TRP/ARG	1,4399		0,1,2199	20	24	23		1984,2095	-0.9	0.1	14		23	0,8590		0,0,4295	no	missense,missense	DACT1	NM_001079520.1,NM_016651.5	101,101	0,1,6494	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging,probably-damaging	662/800,699/837	59113436	1,12989	2200	4295	6495	SO:0001583	missense	51339				multicellular organismal development|Wnt receptor signaling pathway	cytoplasm|nucleus		g.chr14:59113436C>T	AF251079	CCDS9736.1, CCDS41961.1	14q22.3	2013-05-15	2013-05-15		ENSG00000165617	ENSG00000165617			17748	protein-coding gene	gene with protein product		607861	"dapper homolog 1, antagonist of beta-catenin (xenopus)", "dapper, antagonist of beta-catenin, homolog 1 (Xenopus laevis)"			11970895	Standard	NM_001079520		Approved	DAPPER1, THYEX3, HDPR1, DAPPER, FRODO	uc001xdw.3	Q9NYF0	OTTHUMG00000140324	ENST00000335867.4:c.2095C>T	14.37:g.59113436C>T	ENSP00000337439:p.Arg699Trp					DACT1_ENST00000335867.4_Missense_Mutation_p.R699W|DACT1_ENST00000395151.3_Missense_Mutation_p.R418W|DACT1_ENST00000556859.1_Missense_Mutation_p.R418W|DACT1_ENST00000541264.2_Missense_Mutation_p.R418W	p.R662W	NM_001079520.1|NM_016651.5	NP_001072988.1|NP_057735.2	Q9NYF0	DACT1_HUMAN			4	2131	+			699					A8MYJ2|Q86TY0	Missense_Mutation	SNP	ENST00000335867.4	37	c.1984C>T	CCDS9736.1	.	.	.	.	.	.	.	.	.	.	C	15.07	2.723430	0.48728	2.27E-4	0.0	ENSG00000165617	ENST00000556859;ENST00000395151;ENST00000395153;ENST00000335867;ENST00000541264	T;T;T;T;T	0.49139	0.79;0.79;0.79;0.79;0.79	5.63	-0.919	0.10478	.	0.058982	0.64402	D	0.000016	T	0.63558	0.2521	M	0.73598	2.24	0.20873	N	0.999831	D;D	0.89917	0.999;1.0	P;P	0.59703	0.862;0.862	T	0.68334	-0.5436	10	0.72032	D	0.01	-10.4175	18.8561	0.92252	0.5695:0.4305:0.0:0.0	.	662;699	A8MYJ2;Q9NYF0	.;DACT1_HUMAN	W	418;418;662;699;418	ENSP00000451598:R418W;ENSP00000378581:R418W;ENSP00000378582:R662W;ENSP00000337439:R699W;ENSP00000442850:R418W	ENSP00000337439:R699W	R	+	1	2	DACT1	58183189	0.938000	0.31826	0.074000	0.20217	0.522000	0.34438	2.862000	0.48388	-0.033000	0.13736	0.563000	0.77884	CGG		0.667	DACT1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000325515.1	NM_016651		3	53	0	0	0	1	0	3	53					T	59113436	C	T	59113436	3	4	74	1	0	0	0	0	1	0	0	0	4222	643	23	2	2109	2	DACT1	14	59113436	Missense_Mutation	SNP	C	TCGA-EJ-5530-01A-01D-1576-08	26817598	59113436	48236104	54	3894											
AKT1	207	broad.mit.edu	37	chr14	105246551	105246551	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ccgccaggtcttgatgtactCccctacagacgtgcgggtgg	6	9	13	13	3	1	2	0	1	1	1	2	2	2	2	4	3	3	1	4	3	2	3	rs34409589|rs121434592		TCGA-EJ-5530-01A-01D-1576-08	TCGA-EJ-5530-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058daa8b-f3ee-4992-b05e-91c13d9945ec	b153654d-dc6f-4409-afb3-30fd935ea8b5	g.chr14:105246551C>T	ENST00000554581.1	-	2	1529	c.49G>A	c.(49-51)Gag>Aag	p.E17K	AKT1_ENST00000407796.2_Missense_Mutation_p.E17K|AKT1_ENST00000544168.1_5'Flank|AKT1_ENST00000349310.3_Missense_Mutation_p.E17K|AKT1_ENST00000402615.2_Missense_Mutation_p.E17K|AKT1_ENST00000554848.1_Missense_Mutation_p.E17K|AKT1_ENST00000555528.1_Missense_Mutation_p.E17K			P31749	AKT1_HUMAN	v-akt murine thymoma viral oncogene homolog 1	17	Inositol-(1,3,4,5)-tetrakisphosphate binding.|PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.		E -> K (in PROTEUSS and breast cancer; also detected in colorectal and ovarian cancer; somatic mutation; results in increased phosphorylation at T-308 and higher basal ubiquitination; the mutant protein is more efficiently recruited to the plasma membrane; alters phosphatidylinositiol phosphates lipid specificity of the AKT1 PH domain; dbSNP:rs121434592). {ECO:0000269|PubMed:17611497, ECO:0000269|PubMed:21793738}.		activation-induced cell death of T cells (GO:0006924)|aging (GO:0007568)|anagen (GO:0042640)|apoptotic mitochondrial changes (GO:0008637)|apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|cell projection organization (GO:0030030)|cell proliferation (GO:0008283)|cellular protein modification process (GO:0006464)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to granulocyte macrophage colony-stimulating factor stimulus (GO:0097011)|cellular response to hypoxia (GO:0071456)|cellular response to insulin stimulus (GO:0032869)|cellular response to mechanical stimulus (GO:0071260)|endocrine pancreas development (GO:0031018)|epidermal growth factor receptor signaling pathway (GO:0007173)|execution phase of apoptosis (GO:0097194)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|gene expression (GO:0010467)|germ cell development (GO:0007281)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glucose transport (GO:0015758)|glycogen biosynthetic process (GO:0005978)|glycogen cell differentiation involved in embryonic placenta development (GO:0060709)|hyaluronan metabolic process (GO:0030212)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|intracellular signal transduction (GO:0035556)|intrinsic apoptotic signaling pathway (GO:0097193)|labyrinthine layer blood vessel development (GO:0060716)|mammary gland epithelial cell differentiation (GO:0060644)|maternal placenta development (GO:0001893)|membrane organization (GO:0061024)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of autophagy (GO:0010507)|negative regulation of cell size (GO:0045792)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of fatty acid beta-oxidation (GO:0031999)|negative regulation of JNK cascade (GO:0046329)|negative regulation of neuron death (GO:1901215)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|negative regulation of plasma membrane long-chain fatty acid transport (GO:0010748)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of proteolysis (GO:0045861)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nitric oxide biosynthetic process (GO:0006809)|nitric oxide metabolic process (GO:0046209)|osteoblast differentiation (GO:0001649)|peptidyl-serine phosphorylation (GO:0018105)|peripheral nervous system myelin maintenance (GO:0032287)|phosphatidylinositol-mediated signaling (GO:0048015)|phosphorylation (GO:0016310)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell growth (GO:0030307)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of glucose import (GO:0046326)|positive regulation of glucose metabolic process (GO:0010907)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of lipid biosynthetic process (GO:0046889)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of sodium ion transport (GO:0010765)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasoconstriction (GO:0045907)|protein autophosphorylation (GO:0046777)|protein catabolic process (GO:0030163)|protein import into nucleus, translocation (GO:0000060)|protein kinase B signaling (GO:0043491)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cell cycle checkpoint (GO:1901976)|regulation of cell migration (GO:0030334)|regulation of glycogen biosynthetic process (GO:0005979)|regulation of neuron projection development (GO:0010975)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of translation (GO:0006417)|response to fluid shear stress (GO:0034405)|response to food (GO:0032094)|response to heat (GO:0009408)|response to UV-A (GO:0070141)|RNA metabolic process (GO:0016070)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|striated muscle cell differentiation (GO:0051146)|T cell costimulation (GO:0031295)|translation (GO:0006412)	cell-cell junction (GO:0005911)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle (GO:0005819)	14-3-3 protein binding (GO:0071889)|ATP binding (GO:0005524)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|kinase activity (GO:0016301)|nitric-oxide synthase regulator activity (GO:0030235)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)	p.E17K(102)		NS(3)|breast(97)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(7)|lung(10)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|thyroid(10)|urinary_tract(15)	176		all_cancers(154;3.77e-06)|all_lung(585;3.24e-07)|all_epithelial(191;3.45e-05)|all_neural(303;0.0459)|Melanoma(154;0.155)	all cancers(16;0.000486)|OV - Ovarian serous cystadenocarcinoma(23;0.00647)|Epithelial(46;0.0153)|GBM - Glioblastoma multiforme(11;0.116)	all cancers(159;0.0107)|OV - Ovarian serous cystadenocarcinoma(161;0.0132)|Epithelial(152;0.243)	Adenosine triphosphate(DB00171)|Arsenic trioxide(DB01169)	TTGATGTACTCCCCTACAGAC	0.612	E17K(KU1919_URINARY_TRACT)	1	Mis		"breast, colorectal, ovarian, NSCLC"																																	ENST00000554581.1	E17K(KU1919_URINARY_TRACT)	1		Dom	yes		14	14q32.32	207	Mis	v-akt murine thymoma viral oncogene homolog 1			E			"breast, colorectal, ovarian, NSCLC"		102	Substitution - Missense(102)	p.E17K(102)	breast(49)|urinary_tract(14)|thyroid(10)|endometrium(10)|lung(7)|large_intestine(4)|prostate(4)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|ovary(1)|NS(1)	NS(3)|breast(97)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(7)|lung(10)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|thyroid(10)|urinary_tract(15)	176						c.(49-51)Gag>Aag		v-akt murine thymoma viral oncogene homolog 1	Adenosine triphosphate(DB00171)|Arsenic trioxide(DB01169)						130	93	106					14																	105246551		2203	4300	6503	SO:0001583	missense	207				activation of pro-apoptotic gene products|activation-induced cell death of T cells|endocrine pancreas development|G-protein coupled receptor protein signaling pathway|glucose metabolic process|glycogen biosynthetic process|induction of apoptosis by intracellular signals|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|mRNA metabolic process|negative regulation of fatty acid beta-oxidation|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of protein kinase activity|nerve growth factor receptor signaling pathway|nitric oxide biosynthetic process|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of blood vessel endothelial cell migration|positive regulation of cell growth|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of establishment of protein localization in plasma membrane|positive regulation of fat cell differentiation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of lipid biosynthetic process|positive regulation of nitric oxide biosynthetic process|positive regulation of nitric-oxide synthase activity|positive regulation of peptidyl-serine phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|protein autophosphorylation|protein import into nucleus, translocation|regulation of neuron projection development|regulation of translation|response to fluid shear stress|response to heat|response to UV-A|T cell costimulation	cytosol|nucleoplasm|plasma membrane	enzyme binding|identical protein binding|nitric-oxide synthase regulator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|protein serine/threonine kinase activity	g.chr14:105246551C>T	M63167	CCDS9994.1	14q32.33	2014-09-17			ENSG00000142208	ENSG00000142208	2.7.11.1	"Pleckstrin homology (PH) domain containing"	391	protein-coding gene	gene with protein product		164730					Standard	XM_005267401		Approved	RAC, PKB, PRKBA, AKT	uc001ypn.3	P31749	OTTHUMG00000170795	ENST00000554581.1:c.49G>A	14.37:g.105246551C>T	ENSP00000451828:p.Glu17Lys					AKT1_ENST00000402615.2_Missense_Mutation_p.E17K|AKT1_ENST00000349310.3_Missense_Mutation_p.E17K|AKT1_ENST00000554848.1_Missense_Mutation_p.E17K|AKT1_ENST00000555528.1_Missense_Mutation_p.E17K|AKT1_ENST00000407796.2_Missense_Mutation_p.E17K	p.E17K			P31749	AKT1_HUMAN	all cancers(16;0.000486)|OV - Ovarian serous cystadenocarcinoma(23;0.00647)|Epithelial(46;0.0153)|GBM - Glioblastoma multiforme(11;0.116)	all cancers(159;0.0107)|OV - Ovarian serous cystadenocarcinoma(161;0.0132)|Epithelial(152;0.243)	2	1529	-		all_cancers(154;3.77e-06)|all_lung(585;3.24e-07)|all_epithelial(191;3.45e-05)|all_neural(303;0.0459)|Melanoma(154;0.155)	17		E -> K (in breast cancer; also detected in colorectal and ovarian cancer; somatic mutation; alters the PH domain conformation; results in activation of the protein; alters the subcellular location of the protein to the plasma membrane).	PH.		B2RAM5|B7Z5R1|Q9BWB6	Missense_Mutation	SNP	ENST00000554581.1	37	c.49G>A	CCDS9994.1	.	.	.	.	.	.	.	.	.	.	C	23.8	4.458989	0.84317	.	.	ENSG00000142208	ENST00000554581;ENST00000407796;ENST00000349310;ENST00000402615;ENST00000555528;ENST00000554848;ENST00000555926	T;T;T;T;T;T;T	0.37915	1.17;1.17;1.17;1.17;1.17;1.17;1.17	4.61	4.61	0.57282	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.85682	D	0.000000	T	0.59838	0.2223	M	0.71581	2.175	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.64411	-0.6414	10	0.72032	D	0.01	.	16.1757	0.81847	0.0:1.0:0.0:0.0	.	17	P31749	AKT1_HUMAN	K	17	ENSP00000451828:E17K;ENSP00000384293:E17K;ENSP00000270202:E17K;ENSP00000385326:E17K;ENSP00000450688:E17K;ENSP00000451166:E17K;ENSP00000451824:E17K	ENSP00000270202:E17K	E	-	1	0	AKT1	104317596	1.000000	0.71417	0.639000	0.29394	0.296000	0.27459	7.347000	0.79356	2.395000	0.81488	0.462000	0.41574	GAG		0.612	AKT1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410418.1	NM_005163		7	19	0	0	0	1	0	7	19					T	105246551	C	T	105246551	3	4	74	1	0	0	0	0	1	0	0	0	478	864	30	3	1441	3	AKT1	14	105246551	Missense_Mutation	SNP	C	TCGA-EJ-5530-01A-01D-1576-08	46133115	105246551	2102989	55	3895											
C15orf55	256646	broad.mit.edu	37	chr15	34649647	34649647	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcgtaaaaggcggtgtgaCagttttgtcacgggcagaag	10	9	14	8	3	1	2	1	1	0	1	2	2	1	2	1	3	0	3	1	3	3	3			TCGA-EJ-5530-01A-01D-1576-08	TCGA-EJ-5530-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058daa8b-f3ee-4992-b05e-91c13d9945ec	b153654d-dc6f-4409-afb3-30fd935ea8b5	g.chr15:34649647C>T	ENST00000333756.4	+	7	3509	c.3354C>T	c.(3352-3354)gaC>gaT	p.D1118D	NUTM1_ENST00000438749.3_Silent_p.D1136D|NUTM1_ENST00000537011.1_Silent_p.D1146D	NM_175741.1	NP_786883	Q86Y26	NUTM1_HUMAN	NUT midline carcinoma, family member 1	1118						cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.D1118D(1)									GGCGGTGTGACAGTTTTGTCA	0.582																																						ENST00000537011.1																			1	Substitution - coding silent(1)	p.D1118D(1)	prostate(1)								c.(3436-3438)gaC>gaT		NUT midline carcinoma, family member 1							73	75	75					15																	34649647		2201	4298	6499	SO:0001819	synonymous_variant	256646							g.chr15:34649647C>T	AF482429	CCDS32190.1, CCDS61584.1, CCDS61585.1	15q14	2014-01-28	2013-03-14	2013-03-14	ENSG00000184507	ENSG00000184507			29919	protein-coding gene	gene with protein product	"nuclear protein in testis"	608963	"chromosome 15 open reading frame 55"	C15orf55		12543779	Standard	NM_175741		Approved	NUT, DKFZp434O192, FAM22H	uc001zif.3	Q86Y26	OTTHUMG00000172348	ENST00000333756.4:c.3354C>T	15.37:g.34649647C>T						NUTM1_ENST00000333756.4_Silent_p.D1118D|NUTM1_ENST00000438749.3_Silent_p.D1136D	p.D1146D							8	3820	+								B4DZ00|B7Z7Y4|E7EVE8|F5H4I6|Q86YS8|Q8N7F2|Q9NTB3	Silent	SNP	ENST00000333756.4	37	c.3438C>T	CCDS32190.1																																																																																				0.582	NUTM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418026.1	NM_175741		65	87	0	0	0	1	0	65	87					T	34649647	C	T	34649647	2	4	74	1	0	0	0	0	0	0	0	1	1803	477	17	3		3	C15orf55	15	34649647	Silent	SNP	C	TCGA-EJ-5530-01A-01D-1576-08		34649647	67881745	56	3896											
ALPK3	57538	broad.mit.edu	37	chr15	85410592	85410592	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcagattgctaccaaactcCgagggtgagtggttcttggg	8	11	14	8	1	1	2	0	1	1	1	2	3	2	2	2	3	4	3	2	3	2	4	rs541612157		TCGA-EJ-5530-01A-01D-1576-08	TCGA-EJ-5530-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058daa8b-f3ee-4992-b05e-91c13d9945ec	b153654d-dc6f-4409-afb3-30fd935ea8b5	g.chr15:85410592C>T	ENST00000258888.5	+	13	5541	c.5374C>T	c.(5374-5376)Cga>Tga	p.R1792*		NM_020778.4	NP_065829.3	Q96L96	ALPK3_HUMAN	alpha-kinase 3	1792	Alpha-type protein kinase. {ECO:0000255|PROSITE-ProRule:PRU00501}.				heart development (GO:0007507)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.R1792*(2)		NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	81			BRCA - Breast invasive adenocarcinoma(143;0.0587)			TACCAAACTCCGAGGGTGAGT	0.542																																						ENST00000258888.5																			2	Substitution - Nonsense(2)	p.R1792*(2)	prostate(2)	NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	81						c.(5374-5376)Cga>Tga		alpha-kinase 3							123	112	116					15																	85410592		2203	4299	6502	SO:0001587	stop_gained	57538				heart development	nucleus	ATP binding|protein serine/threonine kinase activity	g.chr15:85410592C>T	AY044449	CCDS10333.1	15q25.2	2013-01-29			ENSG00000136383	ENSG00000136383		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	17574	protein-coding gene	gene with protein product	"myocyte induction differentiation originator", "muscle alpha-kinase"					10021370	Standard	NM_020778		Approved	MAK, KIAA1330, Midori	uc002ble.3	Q96L96	OTTHUMG00000148667	ENST00000258888.5:c.5374C>T	15.37:g.85410592C>T	ENSP00000258888:p.Arg1792*						p.R1792*	NM_020778.4	NP_065829.3	Q96L96	ALPK3_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0587)		13	5541	+			1792			Alpha-type protein kinase.		Q9P2L6	Nonsense_Mutation	SNP	ENST00000258888.5	37	c.5374C>T	CCDS10333.1	.	.	.	.	.	.	.	.	.	.	C	45	11.790485	0.99603	.	.	ENSG00000136383	ENST00000258888	.	.	.	5.0	2.98	0.34508	.	0.176384	0.35378	N	0.003247	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.12103	T	0.63	-2.6796	5.3641	0.16103	0.2943:0.6044:0.0:0.1013	.	.	.	.	X	1792	.	ENSP00000258888:R1792X	R	+	1	2	ALPK3	83211596	0.928000	0.31464	0.984000	0.44739	0.694000	0.40290	1.805000	0.38883	1.328000	0.45358	0.655000	0.94253	CGA		0.542	ALPK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000308997.1	NM_020778		5	82	0	0	0	1	0	5	82					T	85410592	C	T	85410592	4	4	74	1	0	0	0	0	0	1	0	0	546	644	23	2	5424	2	ALPK3	15	85410592	Nonsense_Mutation	SNP	C	TCGA-EJ-5530-01A-01D-1576-08	50760945	85410592	17120800	57	3897											
ALDH1A3	220	broad.mit.edu	37	chr15	101425511	101425511	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcacgaatccaagagtgggAaaaagtttgctacatgtaac	15	8	11	7	1	0	1	0	0	0	1	1	3	1	2	1	2	3	4	1	2	6	3			TCGA-EJ-5530-01A-01D-1576-08	TCGA-EJ-5530-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058daa8b-f3ee-4992-b05e-91c13d9945ec	b153654d-dc6f-4409-afb3-30fd935ea8b5	g.chr15:101425511A>G	ENST00000329841.5	+	2	671	c.139A>G	c.(139-141)Aaa>Gaa	p.K47E	ALDH1A3_ENST00000346623.6_Missense_Mutation_p.K47E|RP11-66B24.8_ENST00000558568.1_lincRNA|ALDH1A3_ENST00000560555.1_3'UTR	NM_000693.2	NP_000684.2	P47895	AL1A3_HUMAN	aldehyde dehydrogenase 1 family, member A3	47					embryonic eye morphogenesis (GO:0048048)|face development (GO:0060324)|inner ear morphogenesis (GO:0042472)|locomotory behavior (GO:0007626)|neuromuscular process controlling balance (GO:0050885)|nucleus accumbens development (GO:0021768)|olfactory pit development (GO:0060166)|optic cup morphogenesis involved in camera-type eye development (GO:0002072)|positive regulation of apoptotic process (GO:0043065)|retinal metabolic process (GO:0042574)|retinoic acid biosynthetic process (GO:0002138)|retinoic acid metabolic process (GO:0042573)|retinol metabolic process (GO:0042572)|righting reflex (GO:0060013)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	aldehyde dehydrogenase (NAD) activity (GO:0004029)|aldehyde dehydrogenase [NAD(P)+] activity (GO:0004030)|NAD+ binding (GO:0070403)|protein homodimerization activity (GO:0042803)|thyroid hormone binding (GO:0070324)	p.K47E(2)		NS(1)|central_nervous_system(2)|endometrium(3)|large_intestine(7)|lung(9)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	27	Lung NSC(78;0.00144)|all_lung(78;0.0018)|Melanoma(26;0.00852)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.0766)|Lung(145;0.103)		Vitamin A(DB00162)	CAAGAGTGGGAAAAAGTTTGC	0.333																																						ENST00000329841.5																			2	Substitution - Missense(2)	p.K47E(2)	prostate(2)	NS(1)|central_nervous_system(2)|endometrium(3)|large_intestine(7)|lung(9)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	27						c.(139-141)Aaa>Gaa		aldehyde dehydrogenase 1 family, member A3	NADH(DB00157)|Vitamin A(DB00162)						99	100	100					15																	101425511		2203	4300	6503	SO:0001583	missense	220				retinal metabolic process	cytoplasm	aldehyde dehydrogenase|protein homodimerization activity	g.chr15:101425511A>G	U07919	CCDS10389.1	15q26	2010-05-07			ENSG00000184254	ENSG00000184254	1.2.1.5	"Aldehyde dehydrogenases"	409	protein-coding gene	gene with protein product	"retinaldehyde dehydrogenase 3"	600463		ALDH6		7698756	Standard	XR_111558		Approved	RALDH3	uc002bwn.4	P47895	OTTHUMG00000149870	ENST00000329841.5:c.139A>G	15.37:g.101425511A>G	ENSP00000332256:p.Lys47Glu					ALDH1A3_ENST00000560555.1_3'UTR|ALDH1A3_ENST00000346623.6_Missense_Mutation_p.K47E	p.K47E	NM_000693.2	NP_000684.2	P47895	AL1A3_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.0766)|Lung(145;0.103)		2	671	+	Lung NSC(78;0.00144)|all_lung(78;0.0018)|Melanoma(26;0.00852)		47					Q6NT64	Missense_Mutation	SNP	ENST00000329841.5	37	c.139A>G	CCDS10389.1	.	.	.	.	.	.	.	.	.	.	A	23.5	4.418223	0.83449	.	.	ENSG00000184254	ENST00000329841;ENST00000415812;ENST00000346623	T	0.15139	2.45	5.71	5.71	0.89125	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, N-terminal (1);Aldehyde/histidinol dehydrogenase (1);	0.184196	0.64402	D	0.000018	T	0.17408	0.0418	N	0.04063	-0.285	0.28173	N	0.9285	P;B;B	0.52692	0.955;0.044;0.044	P;B;B	0.55615	0.78;0.082;0.044	T	0.13872	-1.0493	10	0.59425	D	0.04	.	15.6578	0.77155	1.0:0.0:0.0:0.0	.	58;47;47	Q7Z3A2;B2R5T2;P47895	.;.;AL1A3_HUMAN	E	47;47;58	ENSP00000332256:K47E	ENSP00000332256:K47E	K	+	1	0	ALDH1A3	99243034	1.000000	0.71417	0.999000	0.59377	0.986000	0.74619	8.510000	0.90532	2.179000	0.69175	0.459000	0.35465	AAA		0.333	ALDH1A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313620.2			33	88	0	0	0	1	0	33	88					G	101425511	A	G	101425511	3	3	74	1	0	0	0	0	1	0	0	0	492	247	9	4	145	4	ALDH1A3	15	101425511	Missense_Mutation	SNP	A	TCGA-EJ-5530-01A-01D-1576-08	16014919	101425511	1105881	58	3898											
MSLNL	401827	broad.mit.edu	37	chr16	830489	830489	+	Intron	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	catgaggctgtggatgcgtgCgggcacgcatgtgtaggtga	7	9	18	7	3	0	2	0	2	0	0	0	3	0	3	0	4	2	4	0	4	1	1			TCGA-EJ-5530-01A-01D-1576-08	TCGA-EJ-5530-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058daa8b-f3ee-4992-b05e-91c13d9945ec	b153654d-dc6f-4409-afb3-30fd935ea8b5	g.chr16:830489C>T	ENST00000442466.1	-	2	37				MSLNL_ENST00000293892.3_Missense_Mutation_p.R171H			Q96KJ4	MSLNL_HUMAN	mesothelin-like						cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)		p.R171H(1)		breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(15)|ovary(2)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	36						TGGATGCGTGCGGGCACGCAT	0.552																																						ENST00000293892.3																			1	Substitution - Missense(1)	p.R171H(1)	prostate(1)	breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(15)|ovary(2)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	36						c.(511-513)cGc>cAc		mesothelin-like							254	224	234					16																	830489		2177	4261	6438	SO:0001627	intron_variant	401827				cell adhesion	integral to membrane		g.chr16:830489C>T			16p13.3	2008-08-06	2008-07-04	2008-07-04	ENSG00000162006	ENSG00000162006			14170	protein-coding gene	gene with protein product			"chromosome 16 open reading frame 37"	C16orf37			Standard	NG_032123		Approved	MPFL		Q96KJ4		ENST00000442466.1:c.38-327G>A	16.37:g.830489C>T						MSLNL_ENST00000442466.1_Intron	p.R171H			Q96KJ4	MSLNL_HUMAN			3	511	-			0						Missense_Mutation	SNP	ENST00000442466.1	37	c.512G>A		.	.	.	.	.	.	.	.	.	.	C	0.107	-1.144414	0.01728	.	.	ENSG00000162006	ENST00000293892	T	0.18960	2.18	1.02	-2.05	0.07321	.	.	.	.	.	T	0.11665	0.0284	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.31251	-0.9950	5	.	.	.	.	3.0047	0.06025	0.0:0.3578:0.266:0.3762	.	.	.	.	H	171	ENSP00000293892:R171H	.	R	-	2	0	MSLNL	770490	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.827000	0.01704	-1.264000	0.02452	-0.507000	0.04495	CGC		0.552	MSLNL-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_001025190		13	156	0	0	0	1	0	13	156					T	830489	C	T	830489	1	4	74	0	1	0	0	0	0	0	0	0	9882	768	27	1		1	MSLNL	16	830489	Intron	SNP	C	TCGA-EJ-5530-01A-01D-1576-08		830489	89524264	59	3899											
A2BP1	54715	broad.mit.edu	37	chr16	7568237	7568237	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccgcagaacggtatccccgCggaatacacggcccctcatc	9	5	9	18	5	1	1	1	0	0	1	3	2	2	2	5	3	2	2	5	3	4	2			TCGA-EJ-5530-01A-01D-1576-08	TCGA-EJ-5530-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058daa8b-f3ee-4992-b05e-91c13d9945ec	b153654d-dc6f-4409-afb3-30fd935ea8b5	g.chr16:7568237C>T	ENST00000550418.1	+	5	1104	c.116C>T	c.(115-117)gCg>gTg	p.A39V	RBFOX1_ENST00000355637.4_Missense_Mutation_p.A59V|RBFOX1_ENST00000535565.2_Missense_Mutation_p.A75V|RBFOX1_ENST00000436368.2_Missense_Mutation_p.A59V|RBFOX1_ENST00000311745.5_Missense_Mutation_p.A59V|RBFOX1_ENST00000547372.1_Missense_Mutation_p.A82V|RBFOX1_ENST00000422070.4_Missense_Mutation_p.A82V|RBFOX1_ENST00000553186.1_Missense_Mutation_p.A39V|RBFOX1_ENST00000547338.1_Missense_Mutation_p.A39V|RBFOX1_ENST00000340209.4_Missense_Mutation_p.A44V|RBFOX1_ENST00000552089.1_Missense_Mutation_p.A75V	NM_018723.3	NP_061193.2	Q9NWB1	RFOX1_HUMAN	RNA binding protein, fox-1 homolog (C. elegans) 1	39					mRNA processing (GO:0006397)|neuromuscular process controlling balance (GO:0050885)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)|RNA transport (GO:0050658)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	nucleotide binding (GO:0000166)|protein C-terminus binding (GO:0008022)|RNA binding (GO:0003723)	p.A59V(2)		breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|lung(17)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)	55						GGTATCCCCGCGGAATACACG	0.612																																					Ovarian(157;934 2567 15163 39509)	ENST00000340209.4																			2	Substitution - Missense(2)	p.A59V(2)	prostate(2)	breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|lung(17)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)	55						c.(130-132)gCg>gTg		RNA binding protein, fox-1 homolog (C. elegans) 1							120	119	119					16																	7568237		2197	4300	6497	SO:0001583	missense	54715				mRNA processing|RNA splicing|RNA transport	nucleus|trans-Golgi network	nucleotide binding|protein C-terminus binding|RNA binding	g.chr16:7568237C>T	AF107203	CCDS10531.1, CCDS10532.1, CCDS45405.1, CCDS55983.1, CCDS55984.1	16p13.3	2013-02-12			ENSG00000078328	ENSG00000078328		"RNA binding motif (RRM) containing"	18222	protein-coding gene	gene with protein product	"ataxin 2-binding protein 1", "hexaribonucleotide binding protein 1"	605104				10814712, 16260614	Standard	NM_018723		Approved	A2BP1, FOX-1, HRNBP1	uc002cyy.2	Q9NWB1	OTTHUMG00000129551	ENST00000550418.1:c.116C>T	16.37:g.7568237C>T	ENSP00000450031:p.Ala39Val					RBFOX1_ENST00000553186.1_Missense_Mutation_p.A39V|RBFOX1_ENST00000535565.2_Missense_Mutation_p.A75V|RBFOX1_ENST00000547372.1_Missense_Mutation_p.A82V|RBFOX1_ENST00000311745.5_Missense_Mutation_p.A59V|RBFOX1_ENST00000355637.4_Missense_Mutation_p.A59V|RBFOX1_ENST00000552089.1_Missense_Mutation_p.A75V|RBFOX1_ENST00000422070.4_Missense_Mutation_p.A82V|RBFOX1_ENST00000550418.1_Missense_Mutation_p.A39V|RBFOX1_ENST00000436368.2_Missense_Mutation_p.A59V|RBFOX1_ENST00000547338.1_Missense_Mutation_p.A39V	p.A44V			Q9NWB1	RFOX1_HUMAN			2	428	+			39					Q7Z7I7|Q8TAE3|Q8TAF2|Q8WYB2|Q9NS20	Missense_Mutation	SNP	ENST00000550418.1	37	c.131C>T	CCDS55983.1	.	.	.	.	.	.	.	.	.	.	C	33	5.207347	0.95033	.	.	ENSG00000078328	ENST00000547605;ENST00000550418;ENST00000553186;ENST00000547372;ENST00000422070;ENST00000535565;ENST00000552089;ENST00000551752;ENST00000547338;ENST00000436368;ENST00000311745;ENST00000355637;ENST00000352951;ENST00000340209	T;T;T;T;T;T;T;T;T;T;T	0.34275	1.88;1.37;1.72;1.68;1.68;1.78;1.37;1.5;1.68;1.67;1.38	4.85	4.85	0.62838	.	0.129861	0.50627	D	0.000112	T	0.54159	0.1841	L	0.44542	1.39	0.80722	D	1	D;D;D;D;D;D;P;P;D	0.89917	0.998;0.999;1.0;1.0;0.977;1.0;0.937;0.896;0.994	P;D;P;D;P;D;P;P;P	0.85130	0.887;0.92;0.877;0.997;0.651;0.991;0.572;0.505;0.861	T	0.57952	-0.7722	10	0.72032	D	0.01	-6.9425	17.9952	0.89181	0.0:1.0:0.0:0.0	.	59;75;82;59;59;59;39;39;82	F8WAC5;F5H0M1;B7Z1U7;Q9NWB1-2;Q9NWB1-4;Q9NWB1-5;Q9NWB1-3;Q9NWB1;F8VZG9	.;.;.;.;.;.;.;RFOX1_HUMAN;.	V	39;39;39;82;82;75;75;39;39;59;59;59;59;44	ENSP00000450402:A39V;ENSP00000450031:A39V;ENSP00000447753:A39V;ENSP00000446842:A82V;ENSP00000391269:A82V;ENSP00000447281:A39V;ENSP00000447717:A39V;ENSP00000402745:A59V;ENSP00000309117:A59V;ENSP00000347855:A59V;ENSP00000344196:A44V	ENSP00000309117:A59V	A	+	2	0	RBFOX1	7508238	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.041000	0.76558	2.222000	0.72286	0.557000	0.71058	GCG		0.612	RBFOX1-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000409492.2	NM_145891		22	199	0	0	0	1	0	22	199					T	7568237	C	T	7568237	3	4	74	1	0	0	0	0	1	0	0	0	3	768	27	1	213	1	A2BP1	16	7568237	Missense_Mutation	SNP	C	TCGA-EJ-5530-01A-01D-1576-08	6737748	7568237	82786516	60	3900											
CALB2	794	broad.mit.edu	37	chr16	71419500	71419500	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatagaagcggctacattgaCgagcatgagctggatgccct	11	8	13	9	2	0	3	0	2	0	1	0	6	0	4	1	2	5	3	1	2	3	3			TCGA-EJ-5530-01A-01D-1576-08	TCGA-EJ-5530-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058daa8b-f3ee-4992-b05e-91c13d9945ec	b153654d-dc6f-4409-afb3-30fd935ea8b5	g.chr16:71419500C>T	ENST00000302628.4	+	10	725	c.648C>T	c.(646-648)gaC>gaT	p.D216D	CALB2_ENST00000349553.5_Missense_Mutation_p.T185M	NM_001740.4	NP_001731.2	P22676	CALB2_HUMAN	calbindin 2	216	EF-hand 5. {ECO:0000255|PROSITE- ProRule:PRU00448}.				cytosolic calcium ion homeostasis (GO:0051480)	cytoplasm (GO:0005737)|gap junction (GO:0005921)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)	p.D216D(2)		NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	18		Ovarian(137;0.125)				GCTACATTGACGAGCATGAGC	0.567																																						ENST00000349553.5																			2	Substitution - coding silent(2)	p.D216D(2)	haematopoietic_and_lymphoid_tissue(1)|prostate(1)	NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	18						c.(553-555)aCg>aTg		calbindin 2							58	52	54					16																	71419500		2198	4300	6498	SO:0001819	synonymous_variant	794						calcium ion binding	g.chr16:71419500C>T	X56667	CCDS10899.1	16q22.2	2013-01-10	2008-05-19		ENSG00000172137	ENSG00000172137		"EF-hand domain containing"	1435	protein-coding gene	gene with protein product	"calretinin"	114051	"calbindin 2, 29kDa (calretinin)"			1906795	Standard	NM_001740		Approved	CAL2	uc002faa.4	P22676	OTTHUMG00000137589	ENST00000302628.4:c.648C>T	16.37:g.71419500C>T						CALB2_ENST00000302628.4_Silent_p.D216D	p.T185M	NM_007088.3	NP_009019.1	P22676	CALB2_HUMAN			8	634	+		Ovarian(137;0.125)	0			EF-hand 4.		A8K4Y1|Q53HD2|Q96BK4	Missense_Mutation	SNP	ENST00000302628.4	37	c.554C>T	CCDS10899.1	.	.	.	.	.	.	.	.	.	.	C	16.41	3.114761	0.56505	.	.	ENSG00000172137	ENST00000349553	D	0.81821	-1.54	6.15	-2.95	0.05564	.	.	.	.	.	T	0.71592	0.3358	.	.	.	0.24385	N	0.99478	B	0.02656	0.0	B	0.01281	0.0	T	0.60352	-0.7280	8	0.72032	D	0.01	-23.0477	12.6233	0.56616	0.0:0.4879:0.0:0.5121	.	185	A6NER6	.	M	185	ENSP00000340294:T185M	ENSP00000340294:T185M	T	+	2	0	CALB2	69977001	0.994000	0.37717	0.979000	0.43373	0.964000	0.63967	0.102000	0.15272	-0.536000	0.06298	-0.822000	0.03109	ACG		0.567	CALB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268988.1	NM_001740		11	32	0	0	0	1	0	11	32					T	71419500	C	T	71419500	2	4	74	1	0	0	0	0	0	0	0	1	2574	536	19	1		1	CALB2	16	71419500	Silent	SNP	C	TCGA-EJ-5530-01A-01D-1576-08	63851263	71419500	18935253	61	3901											
ATMIN	23300	broad.mit.edu	37	chr16	81078505	81078505	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctgatctggcctggaacaCgatggagtctcagttcagct	8	10	13	10	1	3	1	2	1	2	0	4	4	3	3	1	4	2	3	1	4	1	1			TCGA-EJ-5530-01A-01D-1576-08	TCGA-EJ-5530-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058daa8b-f3ee-4992-b05e-91c13d9945ec	b153654d-dc6f-4409-afb3-30fd935ea8b5	g.chr16:81078505C>G	ENST00000299575.4	+	4	2426	c.2402C>G	c.(2401-2403)aCg>aGg	p.T801R	ATMIN_ENST00000539819.1_3'UTR|ATMIN_ENST00000564241.1_Missense_Mutation_p.T645R|ATMIN_ENST00000566488.1_Missense_Mutation_p.T645R	NM_015251.2	NP_056066.2	O43313	ATMIN_HUMAN	ATM interactor	801					cellular response to DNA damage stimulus (GO:0006974)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	dynein binding (GO:0045502)|metal ion binding (GO:0046872)|transcription regulatory region DNA binding (GO:0044212)	p.T801R(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	20						GCCTGGAACACGATGGAGTCT	0.488																																						ENST00000566488.1																			1	Substitution - Missense(1)	p.T801R(1)	prostate(1)	breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	20						c.(1933-1935)aCg>aGg		ATM interactor							78	79	79					16																	81078505		2202	4300	6502	SO:0001583	missense	23300				response to DNA damage stimulus	nucleus	zinc ion binding	g.chr16:81078505C>G	BC002701	CCDS32494.1, CCDS73917.1	16q23.2	2013-01-07			ENSG00000166454	ENSG00000166454		"Zinc fingers, C2H2-type"	29034	protein-coding gene	gene with protein product	"ATM/ATR-Substrate Chk2-Interacting Zn++-finger protein", "ATM INteracting protein"	614693				15933716, 17525732, 19001856	Standard	XM_005255866		Approved	ASCIZ, KIAA0431, ZNF822	uc002ffz.1	O43313	OTTHUMG00000176469	ENST00000299575.4:c.2402C>G	16.37:g.81078505C>G	ENSP00000299575:p.Thr801Arg					ATMIN_ENST00000299575.4_Missense_Mutation_p.T801R|ATMIN_ENST00000539819.1_3'UTR|ATMIN_ENST00000564241.1_Missense_Mutation_p.T645R	p.T645R			O43313	ATMIN_HUMAN			3	2897	+			801					A8K4H8|Q68DC9	Missense_Mutation	SNP	ENST00000299575.4	37	c.1934C>G	CCDS32494.1	.	.	.	.	.	.	.	.	.	.	C	17.04	3.287617	0.59976	.	.	ENSG00000166454	ENST00000299575;ENST00000539819	T	0.37752	1.18	6.02	4.03	0.46877	.	0.170638	0.52532	D	0.000073	T	0.41766	0.1173	M	0.75447	2.3	0.40296	D	0.978552	D	0.55800	0.973	P	0.44518	0.452	T	0.49103	-0.8974	10	0.87932	D	0	-10.946	11.2898	0.49244	0.1274:0.8071:0.0:0.0654	.	801	O43313	ATMIN_HUMAN	R	801;572	ENSP00000299575:T801R	ENSP00000299575:T801R	T	+	2	0	ATMIN	79636006	0.997000	0.39634	0.964000	0.40570	0.997000	0.91878	3.040000	0.49799	0.838000	0.34948	0.655000	0.94253	ACG		0.488	ATMIN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000432140.1	NM_015251		5	136	0	0	0	1	0	5	136					G	81078505	C	G	81078505	3	3	74	1	0	0	0	0	1	0	0	0	1110	536	19	5	2416	5	ATMIN	16	81078505	Missense_Mutation	SNP	C	TCGA-EJ-5530-01A-01D-1576-08	9659005	81078505	9276248	62	3902											
KSR1	8844	broad.mit.edu	37	chr17	25931720	25931720	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttaggctcgatgaccagcCgaaagcagatgtgttggaag	11	9	13	8	2	1	2	0	1	1	1	2	5	1	3	2	2	2	3	2	2	3	2			TCGA-EJ-5530-01A-01D-1576-08	TCGA-EJ-5530-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058daa8b-f3ee-4992-b05e-91c13d9945ec	b153654d-dc6f-4409-afb3-30fd935ea8b5	g.chr17:25931720C>T	ENST00000319524.6	+	14	1646	c.1646C>T	c.(1645-1647)cCg>cTg	p.P549L	KSR1_ENST00000268763.6_Missense_Mutation_p.P412L|KSR1_ENST00000398988.3_Missense_Mutation_p.P412L|KSR1_ENST00000509603.2_Missense_Mutation_p.P527L|KSR1_ENST00000581975.1_3'UTR			Q8IVT5	KSR1_HUMAN	kinase suppressor of ras 1	549					Ras protein signal transduction (GO:0007265)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.P527L(1)|p.P549L(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(12)|prostate(2)|urinary_tract(1)	28	Lung NSC(42;0.00836)		BRCA - Breast invasive adenocarcinoma(3;0.00122)	UCEC - Uterine corpus endometrioid carcinoma (53;0.168)		GATGACCAGCCGAAAGCAGAT	0.552																																					Esophageal Squamous(88;1120 1336 6324 10502 16832)	ENST00000398988.3																			2	Substitution - Missense(2)	p.P527L(1)|p.P549L(1)	prostate(2)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(12)|prostate(2)|urinary_tract(1)	28						c.(1234-1236)cCg>cTg		kinase suppressor of ras 1							95	107	103					17																	25931720		2014	4174	6188	SO:0001583	missense	8844				Ras protein signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr17:25931720C>T	U43586	CCDS58532.1	17q11.2	2012-05-23	2005-12-14	2005-12-14	ENSG00000141068	ENSG00000141068			6465	protein-coding gene	gene with protein product		601132	"kinase suppressor of ras"	KSR		8521512	Standard	XM_006722151		Approved	RSU2	uc031qzj.1	Q8IVT5	OTTHUMG00000132051	ENST00000319524.6:c.1646C>T	17.37:g.25931720C>T	ENSP00000323178:p.Pro549Leu					KSR1_ENST00000319524.6_Missense_Mutation_p.P549L|KSR1_ENST00000268763.6_Missense_Mutation_p.P412L|KSR1_ENST00000581975.1_3'UTR|KSR1_ENST00000509603.2_Missense_Mutation_p.P527L	p.P412L	NM_014238.1	NP_055053.1	Q8IVT5	KSR1_HUMAN	BRCA - Breast invasive adenocarcinoma(3;0.00122)	UCEC - Uterine corpus endometrioid carcinoma (53;0.168)	15	1680	+	Lung NSC(42;0.00836)		547					F8WEA9|H7BYU0|Q13476	Missense_Mutation	SNP	ENST00000319524.6	37	c.1235C>T		.	.	.	.	.	.	.	.	.	.	C	15.61	2.884277	0.51908	.	.	ENSG00000141068	ENST00000319524;ENST00000509603;ENST00000268763;ENST00000398982	T;T;T	0.80304	-1.29;-1.36;-1.26	5.52	1.09	0.20402	.	1.575470	0.02881	N	0.132794	T	0.66066	0.2752	N	0.19112	0.55	0.18873	N	0.999986	B;B	0.09022	0.002;0.001	B;B	0.04013	0.001;0.001	T	0.49214	-0.8963	10	0.27082	T	0.32	.	2.6585	0.05019	0.152:0.5303:0.1478:0.1698	.	547;527	Q8IVT5;F5H0K8	KSR1_HUMAN;.	L	549;527;412;412	ENSP00000323178:P549L;ENSP00000438795:P527L;ENSP00000268763:P412L	ENSP00000268763:P412L	P	+	2	0	KSR1	22955847	0.721000	0.28007	0.005000	0.12908	0.596000	0.36781	1.226000	0.32563	0.342000	0.23796	0.561000	0.74099	CCG		0.552	KSR1-202	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_014238		14	81	0	0	0	1	0	14	81					T	25931720	C	T	25931720	3	4	74	1	0	0	0	0	1	0	0	0	8581	652	23	2	1277	2	KSR1	17	25931720	Missense_Mutation	SNP	C	TCGA-EJ-5530-01A-01D-1576-08		25931720	55263490	63	3903											
SAP30BP	9400	broad.mit.edu	37	chr17	73663474	73663474	+	5'Flank	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tggcggggaagaagaatgttCtgtcgtctctcgcagtttac	8	12	13	8	3	2	2	0	0	2	2	5	3	2	3	0	3	1	3	0	3	4	3			TCGA-EJ-5530-01A-01D-1576-08	TCGA-EJ-5530-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058daa8b-f3ee-4992-b05e-91c13d9945ec	b153654d-dc6f-4409-afb3-30fd935ea8b5	g.chr17:73663474C>T	ENST00000317905.5	-	0	0				SAP30BP_ENST00000355423.3_Silent_p.L8L|SAP30BP_ENST00000584667.1_Silent_p.L8L|RECQL5_ENST00000420326.2_5'Flank|RECQL5_ENST00000340830.5_5'Flank|RECQL5_ENST00000584999.1_5'Flank|SAP30BP_ENST00000579864.1_3'UTR|RECQL5_ENST00000423245.2_5'Flank	NM_004259.6	NP_004250.4	O94762	RECQ5_HUMAN	RecQ protein-like 5						chromosome separation (GO:0051304)|DNA duplex unwinding (GO:0032508)|DNA metabolic process (GO:0006259)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|mitotic nuclear division (GO:0007067)|negative regulation of transcription elongation from RNA polymerase II promoter (GO:0034244)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|DNA helicase activity (GO:0003678)|nucleic acid binding (GO:0003676)|RNA polymerase II core binding (GO:0000993)	p.L8L(1)		breast(1)|cervix(3)|endometrium(3)|kidney(7)|large_intestine(7)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	36	all_cancers(13;2.73e-08)|Breast(9;6.04e-09)|all_epithelial(9;6.79e-09)		all cancers(21;1.15e-06)|Epithelial(20;2.19e-06)|Lung(188;0.101)|LUSC - Lung squamous cell carcinoma(166;0.112)			GAAGAATGTTCTGTCGTCTCT	0.607								Other identified genes with known or suspected DNA repair function																														ENST00000584667.1																			1	Substitution - coding silent(1)	p.L8L(1)	prostate(1)	kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)	17						c.(22-24)Ctg>Ttg		SAP30 binding protein							77	76	76					17																	73663474		2203	4300	6503	SO:0001631	upstream_gene_variant	29115				apoptosis|induction of apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	g.chr17:73663474C>T	AB006533	CCDS32735.1, CCDS42380.1, CCDS45777.1	17q25	2014-03-07	2014-03-07	2014-03-07	ENSG00000108469	ENSG00000108469			9950	protein-coding gene	gene with protein product	"RecQ protein 5"	603781				9878247	Standard	NM_004259		Approved	RecQ5, FLJ90603	uc010dgl.3	O94762			17.37:g.73663474C>T	Exception_encountered					SAP30BP_ENST00000579864.1_3'UTR|SAP30BP_ENST00000355423.3_Silent_p.L8L	p.L8L	NM_013260.6	NP_037392.1	Q9UHR5	S30BP_HUMAN	all cancers(21;4.25e-07)|Epithelial(20;9.57e-07)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)		1	279	+	all_cancers(13;6.42e-08)		8					Q9H0B1|Q9P1W7|Q9UNC8	Silent	SNP	ENST00000317905.5	37	c.22C>T	CCDS42380.1																																																																																				0.607	RECQL5-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448207.1	NM_004259		5	53	0	0	0	1	0	5	53					T	73663474	C	T	73663474	1	4	74	0	1	0	0	0	0	0	0	0	13834	912	32	3		3	SAP30BP	17	73663474	5'Flank	SNP	C	TCGA-EJ-5530-01A-01D-1576-08	47731754	73663474	7531736	64	3904											
SALL3	27164	broad.mit.edu	37	chr18	76755287	76755287	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtgatgggcccgggcctggCgcccatgctggcccccccac	4	5	14	18	2	0	1	0	1	0	0	0	1	0	1	6	4	1	1	6	4	0	0			TCGA-EJ-5530-01A-01D-1576-08	TCGA-EJ-5530-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058daa8b-f3ee-4992-b05e-91c13d9945ec	b153654d-dc6f-4409-afb3-30fd935ea8b5	g.chr18:76755287C>A	ENST00000537592.2	+	2	3296	c.3296C>A	c.(3295-3297)gCg>gAg	p.A1099E	SALL3_ENST00000536229.3_Missense_Mutation_p.A894E|SALL3_ENST00000575389.2_Missense_Mutation_p.A1027E	NM_171999.3	NP_741996.2	Q9BXA9	SALL3_HUMAN	spalt-like transcription factor 3	1099					forelimb morphogenesis (GO:0035136)|hindlimb morphogenesis (GO:0035137)|negative regulation of smoothened signaling pathway (GO:0045879)|olfactory bulb interneuron development (GO:0021891)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.A1099E(2)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)		CCGGGCCTGGCGCCCATGCTG	0.736																																						ENST00000536229.3																			2	Substitution - Missense(2)	p.A1099E(2)	prostate(2)	NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	74						c.(2680-2682)gCg>gAg		spalt-like transcription factor 3							7	8	8					18																	76755287		2108	4051	6159	SO:0001583	missense	27164				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr18:76755287C>A	AJ007421	CCDS12013.1	18q23	2013-10-17	2013-10-17		ENSG00000256463	ENSG00000256463		"Zinc fingers, C2H2-type"	10527	protein-coding gene	gene with protein product		605079	"sal (Drosophila)-like 3", "sal-like 3 (Drosophila)"			10610715	Standard	NM_171999		Approved	ZNF796	uc002lmt.3	Q9BXA9	OTTHUMG00000132896	ENST00000537592.2:c.3296C>A	18.37:g.76755287C>A	ENSP00000441823:p.Ala1099Glu					SALL3_ENST00000575389.2_Missense_Mutation_p.A1027E|SALL3_ENST00000537592.2_Missense_Mutation_p.A1099E	p.A894E			Q9BXA9	SALL3_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)	2	3390	+		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)	1099					Q9UGH1	Missense_Mutation	SNP	ENST00000537592.2	37	c.2681C>A	CCDS12013.1	.	.	.	.	.	.	.	.	.	.	C	15.70	2.910901	0.52439	.	.	ENSG00000256463	ENST00000537592;ENST00000536229;ENST00000543056	T	0.09255	3.0	5.23	5.23	0.72850	.	0.342769	0.23496	N	0.047558	T	0.09686	0.0238	N	0.19112	0.55	0.29820	N	0.830932	P;B	0.37573	0.6;0.135	B;B	0.37346	0.247;0.06	T	0.06607	-1.0817	10	0.32370	T	0.25	-11.3744	18.4243	0.90604	0.0:1.0:0.0:0.0	.	759;1099	F5GXY4;Q9BXA9	.;SALL3_HUMAN	E	1099;1027;759	ENSP00000441823:A1099E	ENSP00000299466:A1099E	A	+	2	0	SALL3	74856275	0.997000	0.39634	0.031000	0.17742	0.080000	0.17528	3.803000	0.55560	2.433000	0.82419	0.655000	0.94253	GCG		0.736	SALL3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256397.1	NM_171999		2	5	1	0	0.0016	1	0.001712	2	5					A	76755287	C	A	76755287	3	1	74	1	0	0	0	0	1	0	0	0	13812	768	27	5	3302	5	SALL3	18	76755287	Missense_Mutation	SNP	C	TCGA-EJ-5530-01A-01D-1576-08		76755287	1321961	65	3905											
DAZAP1	26528	broad.mit.edu	37	chr19	1418348	1418348	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acggtgctggccagcagaccGcacacgctagatggccgaaa	11	4	13	13	4	0	2	0	0	0	2	0	3	0	2	3	3	2	4	3	3	2	1			TCGA-EJ-5530-01A-01D-1576-08	TCGA-EJ-5530-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058daa8b-f3ee-4992-b05e-91c13d9945ec	b153654d-dc6f-4409-afb3-30fd935ea8b5	g.chr19:1418348G>A	ENST00000233078.4	+	3	377	c.216G>A	c.(214-216)ccG>ccA	p.P72P	DAZAP1_ENST00000586579.1_3'UTR|DAZAP1_ENST00000336761.6_Silent_p.P72P	NM_018959.2	NP_061832.2	Q96EP5	DAZP1_HUMAN	DAZ associated protein 1	72	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|maternal placenta development (GO:0001893)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|RNA stem-loop binding (GO:0035613)			breast(2)|endometrium(2)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)	9		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCAGCAGACCGCACACGCTAG	0.522																																						ENST00000336761.6																			0				breast(2)|endometrium(2)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)	9						c.(214-216)ccG>ccA		DAZ associated protein 1							63	61	62					19																	1418348		2203	4300	6503	SO:0001819	synonymous_variant	26528				cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm|nucleus	nucleotide binding|RNA binding	g.chr19:1418348G>A		CCDS12065.1, CCDS12066.1	19p13.3	2013-07-16			ENSG00000071626	ENSG00000071626		"RNA binding motif (RRM) containing"	2683	protein-coding gene	gene with protein product	"deleted in azoospermia associated protein 1"	607430				10857750, 23658607	Standard	XM_005259530		Approved	MGC19907	uc002lsn.3	Q96EP5		ENST00000233078.4:c.216G>A	19.37:g.1418348G>A						DAZAP1_ENST00000586579.1_3'UTR|DAZAP1_ENST00000233078.4_Silent_p.P72P	p.P72P	NM_170711.1	NP_733829.1	Q96EP5	DAZP1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	3	421	+		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)	72			RRM 1.		Q96MJ3|Q9NRR9	Silent	SNP	ENST00000233078.4	37	c.216G>A	CCDS12065.1																																																																																				0.522	DAZAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449522.3	NM_170711		4	125	0	0	0	1	0	4	125					A	1418348	G	A	1418348	2	1	74	1	0	0	0	0	0	0	0	1	4244	1074	38	1		1	DAZAP1	19	1418348	Silent	SNP	G	TCGA-EJ-5530-01A-01D-1576-08		1418348	57710635	66	3906											
MUC16	94025	broad.mit.edu	37	chr19	9070399	9070399	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atttggaggtgaactcgttaCgggctctgggcttgttgtgc	5	14	15	7	2	1	1	0	1	1	0	2	2	1	2	0	4	3	4	0	4	2	4	rs370295620		TCGA-EJ-5530-01A-01D-1576-08	TCGA-EJ-5530-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058daa8b-f3ee-4992-b05e-91c13d9945ec	b153654d-dc6f-4409-afb3-30fd935ea8b5	g.chr19:9070399C>T	ENST00000397910.4	-	3	17250	c.17047G>A	c.(17047-17049)Gta>Ata	p.V5683I		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	5685	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)		p.V5683I(2)|p.V1316I(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GAACTCGTTACGGGCTCTGGG	0.512																																						ENST00000397910.4																			3	Substitution - Missense(3)	p.V5683I(2)|p.V1316I(1)	prostate(3)	NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(17047-17049)Gta>Ata		mucin 16, cell surface associated																																				SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9070399C>T	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.17047G>A	19.37:g.9070399C>T	ENSP00000381008:p.Val5683Ile						p.V5683I	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			3	17250	-			5685			Thr-rich.		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.17047G>A	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	c	3.439	-0.114398	0.06881	.	.	ENSG00000181143	ENST00000397910	T	0.22743	1.94	1.87	-0.468	0.12146	.	.	.	.	.	T	0.13756	0.0333	L	0.34521	1.04	.	.	.	B	0.09022	0.002	B	0.01281	0.0	T	0.20739	-1.0266	8	0.87932	D	0	.	4.5214	0.11960	0.0:0.6389:0.0:0.3611	.	5683	B5ME49	.	I	5683	ENSP00000381008:V5683I	ENSP00000381008:V5683I	V	-	1	0	MUC16	8931399	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.422000	0.07043	-0.023000	0.13963	-1.514000	0.00941	GTA		0.512	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		7	73	0	0	0	1	0	7	73					T	9070399	C	T	9070399	3	4	74	1	0	0	0	0	1	0	0	0	9973	536	19	1	26804	1	MUC16	19	9070399	Missense_Mutation	SNP	C	TCGA-EJ-5530-01A-01D-1576-08	7652051	9070399	50058584	67	3907											
CCDC105	126402	broad.mit.edu	37	chr19	15132481	15132481	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggaactatcctccggtgtacGaaatataaccaagagttgta	14	10	9	8	2	0	1	0	0	0	1	2	3	2	2	3	2	3	3	3	2	8	6			TCGA-EJ-5530-01A-01D-1576-08	TCGA-EJ-5530-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058daa8b-f3ee-4992-b05e-91c13d9945ec	b153654d-dc6f-4409-afb3-30fd935ea8b5	g.chr19:15132481G>A	ENST00000292574.3	+	5	1177	c.1095G>A	c.(1093-1095)acG>acA	p.T365T		NM_173482.2	NP_775753.2	Q8IYK2	CC105_HUMAN	coiled-coil domain containing 105	365						extracellular vesicular exosome (GO:0070062)		p.T365T(1)		NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(4)|skin(2)	23						TCCGGTGTACGAAATATAACC	0.592																																						ENST00000292574.3																			1	Substitution - coding silent(1)	p.T365T(1)	prostate(1)	NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(4)|skin(2)	23						c.(1093-1095)acG>acA		coiled-coil domain containing 105							89	86	87					19																	15132481		2203	4300	6503	SO:0001819	synonymous_variant	126402				microtubule cytoskeleton organization	microtubule		g.chr19:15132481G>A	AK097684	CCDS12322.1	19p13.12	2008-02-05				ENSG00000160994			26866	protein-coding gene	gene with protein product						12477932	Standard	NM_173482		Approved	FLJ40365	uc002nae.2	Q8IYK2		ENST00000292574.3:c.1095G>A	19.37:g.15132481G>A							p.T365T	NM_173482.2	NP_775753.2	Q8IYK2	CC105_HUMAN			5	1177	+			365					Q8N7T5|Q8NDL5	Silent	SNP	ENST00000292574.3	37	c.1095G>A	CCDS12322.1																																																																																				0.592	CCDC105-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466293.1	NM_173482		9	63	0	0	0	1	0	9	63					A	15132481	G	A	15132481	2	1	74	1	0	0	0	0	0	0	0	1	2740	1045	37	2		2	CCDC105	19	15132481	Silent	SNP	G	TCGA-EJ-5530-01A-01D-1576-08	6062082	15132481	43996502	68	3908											
ZNF43	7594	broad.mit.edu	37	chr19	21990989	21990989	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atttgtagggttttcctccaGtatgaatttttttatgtgta	8	21	8	4	0	0	1	0	1	0	0	2	1	2	1	2	1	0	4	2	1	5	10	rs150351501		TCGA-EJ-5530-01A-01D-1576-08	TCGA-EJ-5530-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058daa8b-f3ee-4992-b05e-91c13d9945ec	b153654d-dc6f-4409-afb3-30fd935ea8b5	g.chr19:21990989G>C	ENST00000354959.4	-	4	2019	c.1850C>G	c.(1849-1851)aCt>aGt	p.T617S	ZNF43_ENST00000595461.1_Missense_Mutation_p.T611S|ZNF43_ENST00000598381.1_Missense_Mutation_p.T611S|ZNF43_ENST00000594012.1_Missense_Mutation_p.T611S	NM_003423.3	NP_003414.2	P17038	ZNF43_HUMAN	zinc finger protein 43	617					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.T617S(1)		autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2)	51		Renal(1328;0.000219)|Hepatocellular(1079;0.121)		GBM - Glioblastoma multiforme(1328;5.97e-05)|STAD - Stomach adenocarcinoma(1328;0.0127)		TTTTCCTCCAGTATGAATTTT	0.343																																						ENST00000594012.1																			1	Substitution - Missense(1)	p.T617S(1)	prostate(1)	autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2)	51						c.(1831-1833)aCt>aGt		zinc finger protein 43							49	52	51					19																	21990989		2203	4297	6500	SO:0001583	missense	7594				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:21990989G>C	X59244	CCDS12413.2, CCDS59367.1, CCDS74321.1	19p13.1-p12	2013-01-08	2006-05-11		ENSG00000198521	ENSG00000198521		"Zinc fingers, C2H2-type", "-"	13109	protein-coding gene	gene with protein product		603972	"zinc finger protein 39-like 1 (KOX 27)", "zinc finger protein 43 (HTF6)"	ZNF39L1		1711675	Standard	NM_001256649		Approved	HTF6, KOX27	uc031rka.1	P17038	OTTHUMG00000128543	ENST00000354959.4:c.1850C>G	19.37:g.21990989G>C	ENSP00000347045:p.Thr617Ser					ZNF43_ENST00000354959.4_Missense_Mutation_p.T617S|ZNF43_ENST00000598381.1_Missense_Mutation_p.T611S|ZNF43_ENST00000595461.1_Missense_Mutation_p.T611S	p.T611S	NM_001256649.1|NM_001256651.1|NM_001256653.1|NM_001256654.1	NP_001243578.1|NP_001243580.1|NP_001243582.1|NP_001243583.1	P17038	ZNF43_HUMAN		GBM - Glioblastoma multiforme(1328;5.97e-05)|STAD - Stomach adenocarcinoma(1328;0.0127)	7	2346	-		Renal(1328;0.000219)|Hepatocellular(1079;0.121)	617					A8K5N8|P28160|Q53XQ2|Q5H9T3|Q96DG1	Missense_Mutation	SNP	ENST00000354959.4	37	c.1832C>G	CCDS12413.2	.	.	.	.	.	.	.	.	.	.	g	9.915	1.210463	0.22289	.	.	ENSG00000198521	ENST00000397148;ENST00000354959	T	0.24151	1.87	1.76	0.506	0.16961	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.22282	0.0537	L	0.31926	0.97	0.27892	N	0.93929	B	0.19445	0.036	B	0.33568	0.166	T	0.38329	-0.9666	9	0.59425	D	0.04	.	8.5104	0.33213	0.0:0.2433:0.7567:0.0	.	617	P17038	ZNF43_HUMAN	S	616;617	ENSP00000347045:T617S	ENSP00000347045:T617S	T	-	2	0	ZNF43	21782829	.	.	0.639000	0.29394	0.926000	0.56050	.	.	0.040000	0.15660	0.305000	0.20034	ACT		0.343	ZNF43-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250380.2	NM_003423		8	116	0	0	0	1	0	8	116					C	21990989	G	C	21990989	3	2	74	1	0	0	0	0	1	0	0	0	17900	1029	36	5	583	5	ZNF43	19	21990989	Missense_Mutation	SNP	G	TCGA-EJ-5530-01A-01D-1576-08	6858508	21990989	37137994	69	3909											
CNOT3	4849	broad.mit.edu	37	chr19	54646887	54646887	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gctgcctcaagaaggtgtccGagggcgtggagcagtttgaa	9	8	16	8	2	1	2	1	1	0	1	2	4	2	3	2	3	2	3	2	3	3	1			TCGA-EJ-5530-01A-01D-1576-08	TCGA-EJ-5530-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058daa8b-f3ee-4992-b05e-91c13d9945ec	b153654d-dc6f-4409-afb3-30fd935ea8b5	g.chr19:54646887G>A	ENST00000406403.1	+	2	1661	c.58G>A	c.(58-60)Gag>Aag	p.E20K	CNOT3_ENST00000358389.3_5'UTR|CNOT3_ENST00000221232.5_Missense_Mutation_p.E20K			O75175	CNOT3_HUMAN	CCR4-NOT transcription complex, subunit 3	20					gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|regulation of stem cell maintenance (GO:2000036)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|transcription, DNA-templated (GO:0006351)|trophectodermal cell differentiation (GO:0001829)	CCR4-NOT complex (GO:0030014)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|nucleus (GO:0005634)		p.E20K(6)		endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(7)|urinary_tract(3)	28	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					GAAGGTGTCCGAGGGCGTGGA	0.557																																						ENST00000406403.1																			6	Substitution - Missense(6)	p.E20K(6)	prostate(4)|urinary_tract(1)|haematopoietic_and_lymphoid_tissue(1)	endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(7)|urinary_tract(3)	28						c.(58-60)Gag>Aag		CCR4-NOT transcription complex, subunit 3							171	172	171					19																	54646887		2203	4300	6503	SO:0001583	missense	4849				nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding	g.chr19:54646887G>A	AF180474	CCDS12880.1	19q13.4	2011-02-14			ENSG00000088038	ENSG00000088038			7879	protein-coding gene	gene with protein product	"NOT3 (negative regulator of transcription 3, yeast) homolog"	604910		NOT3		10637334, 9734811	Standard	NM_014516		Approved	NOT3H, KIAA0691, LENG2	uc002qdj.2	O75175	OTTHUMG00000066468	ENST00000406403.1:c.58G>A	19.37:g.54646887G>A	ENSP00000383954:p.Glu20Lys					CNOT3_ENST00000358389.3_5'UTR|CNOT3_ENST00000221232.5_Missense_Mutation_p.E20K	p.E20K			O75175	CNOT3_HUMAN			2	1661	+	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)		20					Q9NZN7|Q9UF76	Missense_Mutation	SNP	ENST00000406403.1	37	c.58G>A	CCDS12880.1	.	.	.	.	.	.	.	.	.	.	G	35	5.507003	0.96386	.	.	ENSG00000088038	ENST00000221232;ENST00000406403	T;T	0.72725	-0.68;-0.68	5.04	5.04	0.67666	Not CCR4-Not complex component, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.85788	0.5778	M	0.85299	2.745	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.81914	0.995;0.993	D	0.88178	0.2869	10	0.87932	D	0	-31.302	17.5375	0.87837	0.0:0.0:1.0:0.0	.	20;20	B7Z6J7;O75175	.;CNOT3_HUMAN	K	20	ENSP00000221232:E20K;ENSP00000383954:E20K	ENSP00000221232:E20K	E	+	1	0	CNOT3	59338699	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.832000	0.92079	2.512000	0.84698	0.655000	0.94253	GAG		0.557	CNOT3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142130.3	NM_014516		19	241	0	0	0	1	0	19	241					A	54646887	G	A	54646887	3	1	74	1	0	0	0	0	1	0	0	0	3620	1059	37	2	64	2	CNOT3	19	54646887	Missense_Mutation	SNP	G	TCGA-EJ-5530-01A-01D-1576-08	32655898	54646887	4482096	70	3910											
SEC23B	10483	broad.mit.edu	37	chr20	18505662	18505662	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gagcacccttttgcttcaagCaggtgagagcccaacatgga	11	8	11	11	0	1	1	1	1	0	1	1	4	1	2	2	2	5	3	2	2	2	3			TCGA-EJ-5530-01A-01D-1576-08	TCGA-EJ-5530-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058daa8b-f3ee-4992-b05e-91c13d9945ec	b153654d-dc6f-4409-afb3-30fd935ea8b5	g.chr20:18505662C>T	ENST00000336714.3	+	6	1119	c.687C>T	c.(685-687)agC>agT	p.S229S	SEC23B_ENST00000262544.2_Silent_p.S229S|SEC23B_ENST00000377465.1_Silent_p.S229S|SEC23B_ENST00000377475.3_Silent_p.S229S	NM_006363.4|NM_032985.4|NM_032986.3	NP_006354.2|NP_116780.1|NP_116781.1	Q15437	SC23B_HUMAN	Sec23 homolog B (S. cerevisiae)	229					ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	COPII vesicle coat (GO:0030127)|endomembrane system (GO:0012505)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	zinc ion binding (GO:0008270)	p.S229S(1)		breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	32						TTGCTTCAAGCAGGTGAGAGC	0.443																																						ENST00000336714.3																			1	Substitution - coding silent(1)	p.S229S(1)	prostate(1)	breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	32						c.(685-687)agC>agT		Sec23 homolog B (S. cerevisiae)							83	66	72					20																	18505662		2203	4300	6503	SO:0001819	synonymous_variant	10483				ER to Golgi vesicle-mediated transport|intracellular protein transport	COPII vesicle coat|endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane	zinc ion binding	g.chr20:18505662C>T	X97065	CCDS13137.1	20p11.23	2010-02-09	2001-11-28		ENSG00000101310	ENSG00000101310			10702	protein-coding gene	gene with protein product		610512	"Sec23 (S. cerevisiae) homolog B", "congenital dyserythropoietic anemia, type II"	CDAN2		8898360, 10329445, 19621418	Standard	NM_032985		Approved	CDA-II, CDAII, HEMPAS	uc002wrb.2	Q15437	OTTHUMG00000031976	ENST00000336714.3:c.687C>T	20.37:g.18505662C>T						SEC23B_ENST00000377475.3_Silent_p.S229S|SEC23B_ENST00000377465.1_Silent_p.S229S|SEC23B_ENST00000262544.2_Silent_p.S229S	p.S229S	NM_006363.4|NM_032985.4|NM_032986.3	NP_006354.2|NP_116780.1|NP_116781.1	Q15437	SC23B_HUMAN			6	1119	+			229					D3DW33|Q503A9|Q5W183|Q9BS15|Q9BSI2|Q9H1D7	Silent	SNP	ENST00000336714.3	37	c.687C>T	CCDS13137.1																																																																																				0.443	SEC23B-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078184.5			3	49	0	0	0	1	0	3	49					T	18505662	C	T	18505662	2	4	74	1	0	0	0	0	0	0	0	1	13992	709	25	3		3	SEC23B	20	18505662	Silent	SNP	C	TCGA-EJ-5530-01A-01D-1576-08		18505662	44519858	71	3911											
KRTAP19-5	337972	broad.mit.edu	37	chr21	31874243	31874243	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcatgatggacggcagctgcGgtatccatagcctccgaagc	9	7	13	12	3	0	1	0	1	0	0	2	3	2	2	3	3	4	4	3	3	3	2			TCGA-EJ-5530-01A-01D-1576-08	TCGA-EJ-5530-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058daa8b-f3ee-4992-b05e-91c13d9945ec	b153654d-dc6f-4409-afb3-30fd935ea8b5	g.chr21:31874243G>A	ENST00000334151.2	-	1	192	c.166C>T	c.(166-168)Cgc>Tgc	p.R56C		NM_181611.1	NP_853642.1	Q3LI72	KR195_HUMAN	keratin associated protein 19-5	56						intermediate filament (GO:0005882)		p.R56C(1)		endometrium(1)|large_intestine(5)|lung(4)|pancreas(1)|prostate(1)	12						CGGCAGCTGCGGTATCCATAG	0.532																																						ENST00000334151.2																			1	Substitution - Missense(1)	p.R56C(1)	prostate(1)	endometrium(1)|large_intestine(5)|lung(4)|pancreas(1)|prostate(1)	12						c.(166-168)Cgc>Tgc		keratin associated protein 19-5							114	112	113					21																	31874243		2203	4300	6503	SO:0001583	missense	337972					intermediate filament	protein binding	g.chr21:31874243G>A	AP001708	CCDS13597.1	21q22.1	2006-03-13			ENSG00000186977	ENSG00000186977		"Keratin associated proteins"	18940	protein-coding gene	gene with protein product						12359730	Standard	NM_181611		Approved	KAP19.5	uc011ada.2	Q3LI72	OTTHUMG00000057774	ENST00000334151.2:c.166C>T	21.37:g.31874243G>A	ENSP00000334985:p.Arg56Cys						p.R56C	NM_181611.1	NP_853642.1	Q3LI72	KR195_HUMAN			1	192	-			56					A4IF22	Missense_Mutation	SNP	ENST00000334151.2	37	c.166C>T	CCDS13597.1	.	.	.	.	.	.	.	.	.	.	G	9.183	1.023958	0.19433	.	.	ENSG00000186977	ENST00000334151	T	0.09723	2.95	4.5	1.39	0.22231	.	0.420710	0.17161	U	0.184697	T	0.07098	0.0180	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.33420	-0.9869	9	0.87932	D	0	-0.0293	2.2886	0.04133	0.184:0.4961:0.199:0.1209	.	56	Q3LI72	KR195_HUMAN	C	56	ENSP00000334985:R56C	ENSP00000334985:R56C	R	-	1	0	KRTAP19-5	30796114	0.150000	0.22732	0.001000	0.08648	0.174000	0.22865	0.271000	0.18626	0.030000	0.15379	-0.340000	0.08031	CGC		0.532	KRTAP19-5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128226.2			4	91	0	0	0	1	0	4	91					A	31874243	G	A	31874243	3	1	74	1	0	0	0	0	1	0	0	0	8532	1116	39	2	55	2	KRTAP19-5	21	31874243	Missense_Mutation	SNP	G	TCGA-EJ-5530-01A-01D-1576-08		31874243	16255652	72	3912											
AIFM3	150209	broad.mit.edu	37	chr22	21330001	21330001	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tccctggacacacagcctgaGcagctggccctgaggcccaa	9	5	11	16	0	0	2	0	2	0	0	1	3	1	3	4	3	3	2	4	3	1	0	rs143272206		TCGA-EJ-5530-01A-01D-1576-08	TCGA-EJ-5530-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058daa8b-f3ee-4992-b05e-91c13d9945ec	b153654d-dc6f-4409-afb3-30fd935ea8b5	g.chr22:21330001G>T	ENST00000399167.2	+	9	981	c.741G>T	c.(739-741)gaG>gaT	p.E247D	AIFM3_ENST00000440238.2_Missense_Mutation_p.E247D|AIFM3_ENST00000335375.5_Missense_Mutation_p.E235D|AIFM3_ENST00000333607.6_Missense_Mutation_p.E247D|AIFM3_ENST00000465606.1_3'UTR|AIFM3_ENST00000399163.2_Missense_Mutation_p.E247D|AIFM3_ENST00000405089.1_Missense_Mutation_p.E253D	NM_144704.2	NP_653305.1	Q96NN9	AIFM3_HUMAN	apoptosis-inducing factor, mitochondrion-associated, 3	247					cell redox homeostasis (GO:0045454)|execution phase of apoptosis (GO:0097194)	endoplasmic reticulum (GO:0005783)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	2 iron, 2 sulfur cluster binding (GO:0051537)|flavin adenine dinucleotide binding (GO:0050660)|metal ion binding (GO:0046872)|oxidoreductase activity (GO:0016491)	p.E247D(1)		breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	21	all_cancers(11;3.71e-26)|all_epithelial(7;1.59e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0367)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)			CACAGCCTGAGCAGCTGGCCC	0.632																																						ENST00000399167.2																			1	Substitution - Missense(1)	p.E247D(1)	prostate(1)	breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	21						c.(739-741)gaG>gaT		apoptosis-inducing factor, mitochondrion-associated, 3							78	74	76					22																	21330001		2203	4300	6503	SO:0001583	missense	150209							g.chr22:21330001G>T	AK094844	CCDS13786.1, CCDS33605.1, CCDS54503.1	22q11.21	2007-05-03			ENSG00000183773	ENSG00000183773			26398	protein-coding gene	gene with protein product						15764604	Standard	NM_144704		Approved	AIFL, FLJ30473		Q96NN9	OTTHUMG00000150804	ENST00000399167.2:c.741G>T	22.37:g.21330001G>T	ENSP00000382120:p.Glu247Asp					AIFM3_ENST00000440238.2_Missense_Mutation_p.E247D|AIFM3_ENST00000333607.6_Missense_Mutation_p.E247D|AIFM3_ENST00000335375.5_Missense_Mutation_p.E235D|AIFM3_ENST00000465606.1_3'UTR|AIFM3_ENST00000399163.2_Missense_Mutation_p.E247D|AIFM3_ENST00000405089.1_Missense_Mutation_p.E253D	p.E247D	NM_144704.2	NP_653305.1			LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)		9	981	+	all_cancers(11;3.71e-26)|all_epithelial(7;1.59e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0367)						B7WP37|D3DX37|D3DX38|Q6ZT44|Q8N1V3|Q8N5E0	Missense_Mutation	SNP	ENST00000399167.2	37	c.741G>T	CCDS13786.1	.	.	.	.	.	.	.	.	.	.	G	14.76	2.630279	0.46944	.	.	ENSG00000183773	ENST00000399167;ENST00000399163;ENST00000434714;ENST00000405089;ENST00000335375;ENST00000440238;ENST00000333607	T;T;T;T;T;T;T	0.47528	0.84;0.84;0.84;0.84;0.84;0.84;0.84	5.65	2.03	0.26663	Pyridine nucleotide-disulphide oxidoreductase, FAD/NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	T	0.30634	0.0771	L	0.33485	1.01	0.58432	D	0.999997	B;B;B;B;B	0.23806	0.091;0.055;0.016;0.016;0.02	B;B;B;B;B	0.21360	0.034;0.029;0.017;0.017;0.029	T	0.05784	-1.0864	10	0.17369	T	0.5	-20.8613	7.9978	0.30277	0.2595:0.0:0.7405:0.0	.	235;235;253;247;247	B7Z9S7;B7Z376;Q96NN9-2;Q96NN9-3;Q96NN9	.;.;.;.;AIFM3_HUMAN	D	247;247;247;253;235;247;247	ENSP00000382120:E247D;ENSP00000382116:E247D;ENSP00000399657:E247D;ENSP00000385800:E253D;ENSP00000335369:E235D;ENSP00000390798:E247D;ENSP00000327671:E247D	ENSP00000327671:E247D	E	+	3	2	AIFM3	19660001	1.000000	0.71417	0.999000	0.59377	0.950000	0.60333	0.599000	0.24089	0.160000	0.19432	0.561000	0.74099	GAG		0.632	AIFM3-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000320150.1	NM_144704		11	129	1	0	0.000151284	1	0.000165178	11	129					T	21330001	G	T	21330001	3	4	74	1	0	0	0	0	1	0	0	0	428	962	34	5	789	5	AIFM3	22	21330001	Missense_Mutation	SNP	G	TCGA-EJ-5530-01A-01D-1576-08		21330001	29974565	73	3913											
PACSIN2	11252	broad.mit.edu	37	chr22	43289513	43289513	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cccactcagtgagctgctgcGcatacgccttctcgatgcgc	6	9	10	16	4	2	1	1	1	1	0	3	2	2	1	2	0	5	3	2	0	1	2			TCGA-EJ-5530-01A-01D-1576-08	TCGA-EJ-5530-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058daa8b-f3ee-4992-b05e-91c13d9945ec	b153654d-dc6f-4409-afb3-30fd935ea8b5	g.chr22:43289513G>A	ENST00000263246.3	-	3	368	c.167C>T	c.(166-168)gCg>gTg	p.A56V	PACSIN2_ENST00000403744.3_Missense_Mutation_p.A56V|PACSIN2_ENST00000402229.1_Missense_Mutation_p.A56V|PACSIN2_ENST00000407585.1_Missense_Mutation_p.A56V|PACSIN2_ENST00000337959.4_Missense_Mutation_p.A56V	NM_001184970.1	NP_001171899.1	Q9UNF0	PACN2_HUMAN	protein kinase C and casein kinase substrate in neurons 2	56	F-BAR domain.|FCH. {ECO:0000255|PROSITE- ProRule:PRU00083}.				actin cytoskeleton organization (GO:0030036)|caveola assembly (GO:0070836)|caveolin-mediated endocytosis (GO:0072584)|cell projection morphogenesis (GO:0048858)|membrane tubulation (GO:0097320)|negative regulation of endocytosis (GO:0045806)|protein localization to endosome (GO:0036010)	caveola (GO:0005901)|cell projection (GO:0042995)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|focal adhesion (GO:0005925)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|recycling endosome membrane (GO:0055038)	identical protein binding (GO:0042802)|phosphatidic acid binding (GO:0070300)|transporter activity (GO:0005215)	p.A56V(1)		NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(3)|prostate(2)|upper_aerodigestive_tract(1)	19		Glioma(61;0.222)				GAGCTGCTGCGCATACGCCTT	0.652																																						ENST00000263246.3																			1	Substitution - Missense(1)	p.A56V(1)	prostate(1)	NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(3)|prostate(2)|upper_aerodigestive_tract(1)	19						c.(166-168)gCg>gTg		protein kinase C and casein kinase substrate in neurons 2							35	40	38					22																	43289513		2156	4283	6439	SO:0001583	missense	11252				actin cytoskeleton organization|endocytosis	cytoplasmic membrane-bounded vesicle	transporter activity	g.chr22:43289513G>A	AF128536	CCDS43023.1, CCDS54536.1	22q13.2-q13.33	2009-05-08			ENSG00000100266	ENSG00000100266			8571	protein-coding gene	gene with protein product	"syndapin II"	604960				10431838, 11082044	Standard	NM_007229		Approved	SDPII	uc003bdg.4	Q9UNF0	OTTHUMG00000150701	ENST00000263246.3:c.167C>T	22.37:g.43289513G>A	ENSP00000263246:p.Ala56Val					PACSIN2_ENST00000337959.4_Missense_Mutation_p.A56V|PACSIN2_ENST00000407585.1_Missense_Mutation_p.A56V|PACSIN2_ENST00000403744.3_Missense_Mutation_p.A56V|PACSIN2_ENST00000496919.1_5'UTR|PACSIN2_ENST00000402229.1_Missense_Mutation_p.A56V	p.A56V	NM_001184970.1	NP_001171899.1	Q9UNF0	PACN2_HUMAN			3	368	-		Glioma(61;0.222)	56			FCH.		O95921|Q96HV9|Q9H0D3|Q9NPN1|Q9Y4V2	Missense_Mutation	SNP	ENST00000263246.3	37	c.167C>T	CCDS43023.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.174654	0.78452	.	.	ENSG00000100266	ENST00000263246;ENST00000337959;ENST00000407585;ENST00000403744;ENST00000402229;ENST00000453643;ENST00000418133;ENST00000422336	T;T;T;T;T;T;T;T	0.60797	1.72;1.72;1.72;1.72;1.72;0.16;0.16;0.16	4.49	4.49	0.54785	Fps/Fes/Fer/CIP4 homology (3);	0.210325	0.49916	D	0.000135	T	0.69415	0.3108	M	0.77103	2.36	0.80722	D	1	D;D	0.71674	0.989;0.998	P;P	0.51079	0.523;0.658	T	0.76138	-0.3069	10	0.87932	D	0	-5.2156	18.5054	0.90896	0.0:0.0:1.0:0.0	.	56;56	Q6FIA3;Q9UNF0	.;PACN2_HUMAN	V	56	ENSP00000263246:A56V;ENSP00000338379:A56V;ENSP00000385952:A56V;ENSP00000385372:A56V;ENSP00000385040:A56V;ENSP00000398573:A56V;ENSP00000396816:A56V;ENSP00000403435:A56V	ENSP00000263246:A56V	A	-	2	0	PACSIN2	41619457	1.000000	0.71417	0.763000	0.31416	0.338000	0.28826	7.565000	0.82337	2.784000	0.95788	0.551000	0.68910	GCG		0.652	PACSIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319665.1	NM_007229		7	63	0	0	0	1	0	7	63					A	43289513	G	A	43289513	3	1	74	1	0	0	0	0	1	0	0	0	11375	1087	38	1	1329	1	PACSIN2	22	43289513	Missense_Mutation	SNP	G	TCGA-EJ-5530-01A-01D-1576-08	21959512	43289513	8015053	74	3914											
ARSE	415	broad.mit.edu	37	chrX	2867523	2867523	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	aagggctgaccagatgaccgGcatccacgagacgggtatca	12	5	13	11	3	1	4	1	2	0	2	2	5	2	4	3	3	0	3	3	3	2	1			TCGA-EJ-5530-01A-01D-1576-08	TCGA-EJ-5530-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058daa8b-f3ee-4992-b05e-91c13d9945ec	b153654d-dc6f-4409-afb3-30fd935ea8b5	g.chrX:2867523G>A	ENST00000381134.3	-	6	742	c.676C>T	c.(676-678)Ccg>Tcg	p.P226S	ARSE_ENST00000540563.1_Missense_Mutation_p.P181S|ARSE_ENST00000545496.1_Missense_Mutation_p.P251S	NM_000047.2	NP_000038.2	P51690	ARSE_HUMAN	arylsulfatase E (chondrodysplasia punctata 1)	226					cellular protein metabolic process (GO:0044267)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)	p.P226S(2)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				CAGATGACCGGCATCCACGAG	0.542																																						ENST00000545496.1																			2	Substitution - Missense(2)	p.P226S(2)	prostate(2)	breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						c.(751-753)Ccg>Tcg		arylsulfatase E (chondrodysplasia punctata 1)							154	112	127					X																	2867523		2203	4300	6503	SO:0001583	missense	415				skeletal system development	Golgi stack	arylsulfatase activity|metal ion binding	g.chrX:2867523G>A	X83573	CCDS14122.1, CCDS75948.1, CCDS75949.1	Xp22.33	2013-02-14			ENSG00000157399	ENSG00000157399		"Arylsulfatase family"	719	protein-coding gene	gene with protein product		300180		CDPX, CDPX1		7720070	Standard	NM_000047		Approved		uc004crc.4	P51690	OTTHUMG00000137358	ENST00000381134.3:c.676C>T	X.37:g.2867523G>A	ENSP00000370526:p.Pro226Ser					ARSE_ENST00000540563.1_Missense_Mutation_p.P181S|ARSE_ENST00000381134.3_Missense_Mutation_p.P226S	p.P251S			P51690	ARSE_HUMAN			7	1042	-		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)	226					Q53FT2|Q53FU8	Missense_Mutation	SNP	ENST00000381134.3	37	c.751C>T	CCDS14122.1	.	.	.	.	.	.	.	.	.	.	g	3.692	-0.063352	0.07273	.	.	ENSG00000157399	ENST00000540563;ENST00000545496;ENST00000381134	D;D;D	0.93426	-3.22;-3.22;-3.22	3.56	2.53	0.30540	Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.517876	0.17444	N	0.174027	D	0.89030	0.6599	L	0.47716	1.5	0.09310	N	1	B;B;B	0.12630	0.005;0.005;0.006	B;B;B	0.23150	0.026;0.037;0.044	T	0.78775	-0.2072	10	0.30854	T	0.27	.	8.8263	0.35057	0.0:0.0:0.6551:0.3449	.	181;251;226	F5H324;F5GYY5;P51690	.;.;ARSE_HUMAN	S	181;251;226	ENSP00000438198:P181S;ENSP00000441417:P251S;ENSP00000370526:P226S	ENSP00000370526:P226S	P	-	1	0	ARSE	2877523	0.000000	0.05858	0.001000	0.08648	0.002000	0.02628	-0.083000	0.11286	1.400000	0.46741	0.597000	0.82753	CCG		0.542	ARSE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055643.1	NM_000047		3	47	0	0	0	1	0	3	47					A	2867523	G	A	2867523	3	1	74	1	0	0	0	0	1	0	0	0	990	1203	42	3	1117	3	ARSE	23	2867523	Missense_Mutation	SNP	G	TCGA-EJ-5530-01A-01D-1576-08		2867523	152403037	75	3915											
RPS6KA6	27330	broad.mit.edu	37	chrX	83411185	83411185	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgagtaatagggatttctttAacaactccttcatcctgtaa	12	15	6	8	0	2	1	1	1	1	0	4	2	4	2	2	1	2	2	2	1	5	7			TCGA-EJ-5530-01A-01D-1576-08	TCGA-EJ-5530-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058daa8b-f3ee-4992-b05e-91c13d9945ec	b153654d-dc6f-4409-afb3-30fd935ea8b5	g.chrX:83411185A>T	ENST00000262752.2	-	3	163	c.156T>A	c.(154-156)gtT>gtA	p.V52V	RPS6KA6_ENST00000543399.1_Silent_p.V52V	NM_014496.4	NP_055311.1	Q9UK32	KS6A6_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 6	52					axon guidance (GO:0007411)|central nervous system development (GO:0007417)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|negative regulation of embryonic development (GO:0045992)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of mesoderm development (GO:2000381)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V52V(1)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(26)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	46						GGATTTCTTTAACAACTCCTT	0.353																																						ENST00000262752.2																			1	Substitution - coding silent(1)	p.V52V(1)	prostate(1)	NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(26)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	46						c.(154-156)gtT>gtA		ribosomal protein S6 kinase, 90kDa, polypeptide 6							82	67	72					X																	83411185		2203	4300	6503	SO:0001819	synonymous_variant	27330				axon guidance|central nervous system development|intracellular protein kinase cascade|synaptic transmission	cytosol|nucleoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chrX:83411185A>T	AF184965	CCDS14451.1	Xq21.1	2011-04-05	2002-08-29		ENSG00000072133	ENSG00000072133			10435	protein-coding gene	gene with protein product		300303	"ribosomal protein S6 kinase, 90kD, polypeptide 6"			10644430	Standard	NM_014496		Approved	RSK4	uc004eej.2	Q9UK32	OTTHUMG00000021923	ENST00000262752.2:c.156T>A	X.37:g.83411185A>T						RPS6KA6_ENST00000543399.1_Silent_p.V52V	p.V52V	NM_014496.4	NP_055311.1	Q9UK32	KS6A6_HUMAN			3	163	-			52					B2R854|B7ZL90|Q6FHX2|Q8WX28|Q9H4S6	Silent	SNP	ENST00000262752.2	37	c.156T>A	CCDS14451.1																																																																																				0.353	RPS6KA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057372.1	NM_014496		5	39	0	0	0	1	0	5	39					T	83411185	A	T	83411185	2	4	74	1	0	0	0	0	0	0	0	1	13655	349	13	5		5	RPS6KA6	23	83411185	Silent	SNP	A	TCGA-EJ-5530-01A-01D-1576-08	80543662	83411185	71859375	76	3916											
MST4	51765	broad.mit.edu	37	chrX	131207114	131207114	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgaagaaactaattgaaaaaTttcaaaagtaagttggaaat	21	11	7	2	0	1	3	1	2	0	1	1	4	1	4	0	1	1	2	0	1	9	5			TCGA-EJ-5530-01A-01D-1576-08	TCGA-EJ-5530-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058daa8b-f3ee-4992-b05e-91c13d9945ec	b153654d-dc6f-4409-afb3-30fd935ea8b5	g.chrX:131207114T>A	ENST00000354719.6	+	10	1363	c.1147T>A	c.(1147-1149)Ttt>Att	p.F383I	MST4_ENST00000496850.1_Missense_Mutation_p.F345I|MST4_ENST00000394334.2_Missense_Mutation_p.F407I|MST4_ENST00000481105.1_Missense_Mutation_p.F429I|MST4_ENST00000394335.2_Missense_Mutation_p.F330I														p.F407I(1)		endometrium(2)|large_intestine(2)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	23	Acute lymphoblastic leukemia(192;0.000127)					AATTGAAAAATTTCAAAAGTA	0.343																																						ENST00000394334.2																			1	Substitution - Missense(1)	p.F407I(1)	prostate(1)	endometrium(2)|large_intestine(2)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	23						c.(1219-1221)Ttt>Att									48	53	51					X																	131207114		2169	4256	6425	SO:0001583	missense	0				cellular component disassembly involved in apoptosis|regulation of apoptosis	cytosol|Golgi membrane	ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity	g.chrX:131207114T>A																												ENST00000354719.6:c.1147T>A	X.37:g.131207114T>A	ENSP00000346755:p.Phe383Ile					MST4_ENST00000354719.6_Missense_Mutation_p.F383I|MST4_ENST00000496850.1_Missense_Mutation_p.F345I|MST4_ENST00000394335.2_Missense_Mutation_p.F330I|MST4_ENST00000481105.1_Missense_Mutation_p.F429I	p.F407I	NM_016542.3	NP_057626.2	Q9P289	MST4_HUMAN			11	1472	+	Acute lymphoblastic leukemia(192;0.000127)		407						Missense_Mutation	SNP	ENST00000354719.6	37	c.1219T>A		.	.	.	.	.	.	.	.	.	.	t	13.05	2.121967	0.37436	.	.	ENSG00000134602	ENST00000394334;ENST00000481105;ENST00000354719;ENST00000394335;ENST00000496850	T;T;T;T;T	0.26957	1.7;1.7;1.7;1.7;1.7	5.65	5.65	0.86999	.	0.000000	0.64402	D	0.000002	T	0.22513	0.0543	L	0.38531	1.155	0.33057	D	0.533502	B;B;B;B;B	0.24186	0.004;0.002;0.099;0.006;0.002	B;B;B;B;B	0.25291	0.005;0.004;0.059;0.012;0.005	T	0.21381	-1.0247	10	0.23891	T	0.37	.	14.9086	0.70737	0.0:0.0:0.0:1.0	.	429;383;345;330;407	B4E0Y9;Q8NBY1;Q9P289-3;Q9P289-2;Q9P289	.;.;.;.;MST4_HUMAN	I	407;429;383;330;345	ENSP00000377867:F407I;ENSP00000418753:F429I;ENSP00000346755:F383I;ENSP00000377868:F330I;ENSP00000419702:F345I	ENSP00000346755:F383I	F	+	1	0	AL109749.1	131034795	1.000000	0.71417	1.000000	0.80357	0.838000	0.47535	4.491000	0.60326	1.903000	0.55091	0.422000	0.28245	TTT		0.343	MST4-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000058308.2			3	66	0	0	0	1	0	3	66					A	131207114	T	A	131207114	3	1	74	1	0	0	0	0	1	0	0	0	9892	1493	52	5	1257	5	MST4	23	131207114	Missense_Mutation	SNP	T	TCGA-EJ-5530-01A-01D-1576-08	47795929	131207114	24063446	77	3917											
AFF2	2334	broad.mit.edu	37	chrX	148037365	148037365	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctcattagggagaaagcccGtccacggcccactcagaaaa	13	6	9	13	2	2	2	2	0	1	2	4	3	3	2	3	2	1	0	3	2	4	1			TCGA-EJ-5530-01A-01D-1576-08	TCGA-EJ-5530-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058daa8b-f3ee-4992-b05e-91c13d9945ec	b153654d-dc6f-4409-afb3-30fd935ea8b5	g.chrX:148037365G>A	ENST00000370460.2	+	11	2269	c.1790G>A	c.(1789-1791)cGt>cAt	p.R597H	AFF2_ENST00000370457.5_Missense_Mutation_p.R564H|AFF2_ENST00000342251.3_Missense_Mutation_p.R564H|AFF2_ENST00000286437.5_Missense_Mutation_p.R238H	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN	AF4/FMR2 family, member 2	597					brain development (GO:0007420)|learning or memory (GO:0007611)|mRNA processing (GO:0006397)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nuclear speck (GO:0016607)	G-quadruplex RNA binding (GO:0002151)	p.R597H(3)|p.R238H(1)		breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					GAGAAAGCCCGTCCACGGCCC	0.468																																						ENST00000370460.2																			4	Substitution - Missense(4)	p.R597H(3)|p.R238H(1)	prostate(4)	breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109						c.(1789-1791)cGt>cAt		AF4/FMR2 family, member 2							97	100	99					X																	148037365		2203	4300	6503	SO:0001583	missense	2334				brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding	g.chrX:148037365G>A	U48436	CCDS14684.1, CCDS55521.1, CCDS76040.1	Xq28	2008-02-05	2005-06-27	2005-06-27	ENSG00000155966	ENSG00000155966			3776	protein-coding gene	gene with protein product		300806	"fragile X mental retardation 2"	FMR2			Standard	NM_002025		Approved	FRAXE	uc004fcp.3	P51816	OTTHUMG00000022613	ENST00000370460.2:c.1790G>A	X.37:g.148037365G>A	ENSP00000359489:p.Arg597His					AFF2_ENST00000342251.3_Missense_Mutation_p.R564H|AFF2_ENST00000370457.5_Missense_Mutation_p.R564H|AFF2_ENST00000286437.5_Missense_Mutation_p.R238H	p.R597H	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN			11	2269	+	Acute lymphoblastic leukemia(192;6.56e-05)		597					A2RTY4|B4DXD5|B7WNQ1|B7ZLD6|B7ZLD9|O43786|O60215|P78407|Q13521|Q14323|Q7Z2F7|Q7Z400|Q9UNA5	Missense_Mutation	SNP	ENST00000370460.2	37	c.1790G>A	CCDS14684.1	.	.	.	.	.	.	.	.	.	.	G	12.76	2.035694	0.35893	.	.	ENSG00000155966	ENST00000370460;ENST00000370457;ENST00000342251;ENST00000286437	T;T;T;T	0.66815	-0.23;-0.23;-0.23;-0.23	5.5	4.62	0.57501	.	0.064020	0.64402	D	0.000009	T	0.72447	0.3461	M	0.77313	2.365	0.29780	N	0.83405	D;D;D;D;D;D	0.58620	0.983;0.979;0.979;0.979;0.979;0.983	P;P;P;P;P;P	0.55087	0.685;0.557;0.557;0.557;0.657;0.768	T	0.71533	-0.4564	10	0.49607	T	0.09	.	4.3047	0.10940	0.2164:0.1943:0.5893:0.0	.	238;562;564;558;587;597	B4DXD5;P51816-6;P51816-3;P51816-2;P51816-5;P51816	.;.;.;.;.;AFF2_HUMAN	H	597;564;564;238	ENSP00000359489:R597H;ENSP00000359486:R564H;ENSP00000345459:R564H;ENSP00000286437:R238H	ENSP00000286437:R238H	R	+	2	0	AFF2	147845065	1.000000	0.71417	0.632000	0.29296	0.000000	0.00434	4.345000	0.59360	1.074000	0.40909	-0.283000	0.09986	CGT		0.468	AFF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058673.2	NM_002025		27	113	0	0	0	1	0	27	113					A	148037365	G	A	148037365	3	1	74	1	0	0	0	0	1	0	0	0	357	1145	40	1	1887	1	AFF2	23	148037365	Missense_Mutation	SNP	G	TCGA-EJ-5530-01A-01D-1576-08	16830251	148037365	7233195	78	3918											
CNGA2	1260	broad.mit.edu	37	chrX	150911712	150911712	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	catccacagccctgaggtgcGcttcaaccgcctgctgcact	7	8	9	17	2	1	1	1	1	0	0	2	1	2	1	4	1	5	3	4	1	1	1			TCGA-EJ-5530-01A-01D-1576-08	TCGA-EJ-5530-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058daa8b-f3ee-4992-b05e-91c13d9945ec	b153654d-dc6f-4409-afb3-30fd935ea8b5	g.chrX:150911712G>A	ENST00000329903.4	+	6	770	c.737G>A	c.(736-738)cGc>cAc	p.R246H		NM_005140.1	NP_005131.1	Q16280	CNGA2_HUMAN	cyclic nucleotide gated channel alpha 2	246					phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|sensory perception of smell (GO:0007608)	integral component of plasma membrane (GO:0005887)	cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|intracellular cGMP activated cation channel activity (GO:0005223)|voltage-gated potassium channel activity (GO:0005249)	p.R246H(1)		breast(4)|endometrium(4)|large_intestine(5)|lung(34)|prostate(2)	49	Acute lymphoblastic leukemia(192;6.56e-05)					CCTGAGGTGCGCTTCAACCGC	0.532																																						ENST00000329903.4																			1	Substitution - Missense(1)	p.R246H(1)	prostate(1)	breast(4)|endometrium(4)|large_intestine(5)|lung(34)|prostate(2)	49						c.(736-738)cGc>cAc		cyclic nucleotide gated channel alpha 2							166	123	138					X																	150911712		2203	4300	6503	SO:0001583	missense	1260				response to stimulus|sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity	g.chrX:150911712G>A	S76067	CCDS14701.1	Xq27	2011-07-05			ENSG00000183862	ENSG00000183862		"Voltage-gated ion channels / Cyclic nucleotide-regulated channels"	2149	protein-coding gene	gene with protein product		300338		CNCA1, CNCA		7532814, 16382102	Standard	NM_005140		Approved	CNG2, OCNC1, OCNCa, OCNCALPHA, OCNCalpha, FLJ46312	uc004fey.1	Q16280	OTTHUMG00000024173	ENST00000329903.4:c.737G>A	X.37:g.150911712G>A	ENSP00000328478:p.Arg246His						p.R246H	NM_005140.1	NP_005131.1	Q16280	CNGA2_HUMAN			6	770	+	Acute lymphoblastic leukemia(192;6.56e-05)		246					A0AVD0	Missense_Mutation	SNP	ENST00000329903.4	37	c.737G>A	CCDS14701.1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.251493	0.80135	.	.	ENSG00000183862	ENST00000329903	D	0.98617	-5.03	5.49	5.49	0.81192	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99495	0.9820	H	0.97783	4.075	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	D	0.98059	1.0392	10	0.87932	D	0	.	15.6554	0.77129	0.0:0.0:1.0:0.0	.	246	Q16280	CNGA2_HUMAN	H	246	ENSP00000328478:R246H	ENSP00000328478:R246H	R	+	2	0	CNGA2	150662368	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	9.476000	0.97823	2.293000	0.77203	0.600000	0.82982	CGC		0.532	CNGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060888.1	NM_005140		4	87	0	0	0	1	0	4	87					A	150911712	G	A	150911712	3	1	74	1	0	0	0	0	1	0	0	0	3597	1087	38	1	759	1	CNGA2	23	150911712	Missense_Mutation	SNP	G	TCGA-EJ-5530-01A-01D-1576-08	2874347	150911712	4358848	79	3919											
FBXO6	26270	broad.mit.edu	37	chr1	11733821	11733821	+	Frame_Shift_Del	DEL	G	G	-																															cccaagatgaccaggaaccaGgcctcctccgaggctcagcc																										TCGA-EJ-5531-01A-01D-1576-08	TCGA-EJ-5531-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729e845e-9b3f-47df-9400-07a81f3a5c12	85790f6e-85d7-4f6a-8784-4900d2364873	g.chr1:11733821delG	ENST00000376753.4	+	6	930	c.795delG	c.(793-795)cagfs	p.Q265fs		NM_018438.5	NP_060908.1	Q9NRD1	FBX6_HUMAN	F-box protein 6	265					DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|glycoprotein catabolic process (GO:0006516)|proteolysis (GO:0006508)|response to unfolded protein (GO:0006986)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)	cytoplasm (GO:0005737)|SCF ubiquitin ligase complex (GO:0019005)	carbohydrate binding (GO:0030246)|glycoprotein binding (GO:0001948)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|large_intestine(1)|lung(1)|ovary(1)|upper_aerodigestive_tract(2)	6	Ovarian(185;0.249)	Lung NSC(185;4.15e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.25e-06)|COAD - Colon adenocarcinoma(227;0.000251)|BRCA - Breast invasive adenocarcinoma(304;0.000297)|Kidney(185;0.000747)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00727)|READ - Rectum adenocarcinoma(331;0.0649)		CCAGGAACCAGGCCTCCTCCG	0.617																																					NSCLC(54;506 1562 46490 51389)	ENST00000376753.4																			0				breast(1)|large_intestine(1)|lung(1)|ovary(1)|upper_aerodigestive_tract(2)	6						c.(793-795)cafs		F-box protein 6							86	83	84					1																	11733821		2203	4300	6503	SO:0001589	frameshift_variant	26270				DNA damage checkpoint|DNA repair|ER-associated protein catabolic process|response to unfolded protein|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	cytoplasm|SCF ubiquitin ligase complex	glycoprotein binding	g.chr1:11733821delG	AF129536	CCDS133.1	1p36.22	2008-05-14	2004-06-15		ENSG00000116663	ENSG00000116663		"F-boxes /  "other""	13585	protein-coding gene	gene with protein product		605647	"F-box only protein 6"			10531035, 10945468	Standard	NM_018438		Approved	FBX6, FBG2, FBS2, Fbx6b	uc001aso.3	Q9NRD1	OTTHUMG00000002229	ENST00000376753.4:c.795delG	1.37:g.11733821delG	ENSP00000365944:p.Gln265fs						p.Q265fs	NM_018438.5	NP_060908.1	Q9NRD1	FBX6_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.25e-06)|COAD - Colon adenocarcinoma(227;0.000251)|BRCA - Breast invasive adenocarcinoma(304;0.000297)|Kidney(185;0.000747)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00727)|READ - Rectum adenocarcinoma(331;0.0649)	6	930	+	Ovarian(185;0.249)	Lung NSC(185;4.15e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	265					B1AK42|B2RC88|Q9UKT3	Frame_Shift_Del	DEL	ENST00000376753.4	37	c.795delG	CCDS133.1																																																																																				0.617	FBXO6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006332.1	NM_018438		8	91						8	91	---	---	---	---	-	11733821	G	-	11733821	7	5	75	1	0	1	0	1	0	0	0	0	5759	991	35	0	813	0	FBXO6	1	11733821	Frame_Shift_Del	DEL	G	TCGA-EJ-5531-01A-01D-1576-08		11733821	237516800	1	3920											
COL24A1	255631	broad.mit.edu	37	chr1	86590963	86590963	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcctcactgatgcgatgagtGgtcactgacaggctgaaatt	10	10	12	9	1	2	4	2	4	0	0	2	5	2	4	1	2	1	1	1	2	1	1			TCGA-EJ-5531-01A-01D-1576-08	TCGA-EJ-5531-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729e845e-9b3f-47df-9400-07a81f3a5c12	85790f6e-85d7-4f6a-8784-4900d2364873	g.chr1:86590963G>T	ENST00000370571.2	-	3	1422	c.1056C>A	c.(1054-1056)acC>acA	p.T352T	COL24A1_ENST00000436319.1_Silent_p.T352T	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1	352					extracellular matrix organization (GO:0030198)|hematopoietic progenitor cell differentiation (GO:0002244)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)	p.T352T(1)		NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		TGCGATGAGTGGTCACTGACA	0.413																																						ENST00000370571.2																			1	Substitution - coding silent(1)	p.T352T(1)	prostate(1)	NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101						c.(1054-1056)acC>acA		collagen, type XXIV, alpha 1							139	123	128					1																	86590963		1939	4133	6072	SO:0001819	synonymous_variant	255631				cell adhesion	collagen	extracellular matrix structural constituent	g.chr1:86590963G>T	AF410793	CCDS41353.1	1p22.3-p22.2	2013-01-16			ENSG00000171502	ENSG00000171502		"Collagens"	20821	protein-coding gene	gene with protein product		610025					Standard	NM_152890		Approved		uc001dlj.3	Q17RW2	OTTHUMG00000010629	ENST00000370571.2:c.1056C>A	1.37:g.86590963G>T						COL24A1_ENST00000436319.1_Silent_p.T352T	p.T352T	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN		all cancers(265;0.0627)|Epithelial(280;0.0689)	3	1422	-			352					C9J1X6|Q14BD7|Q59EX5|Q5VY50|Q7Z5L5	Silent	SNP	ENST00000370571.2	37	c.1056C>A	CCDS41353.1																																																																																				0.413	COL24A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029335.4	NM_152890		5	111	1	0	0.184627	0.184627	0.189186	5	111					T	86590963	G	T	86590963	2	4	75	1	0	0	0	0	0	0	0	1	3683	1335	47	5		5	COL24A1	1	86590963	Silent	SNP	G	TCGA-EJ-5531-01A-01D-1576-08	74857142	86590963	162659658	2	3921											
FLG	2312	broad.mit.edu	37	chr1	152281970	152281970	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgagtgcctggagctgtctcGtgcctgctcgtggcgggatc	3	11	16	11	3	1	1	0	1	1	0	4	3	1	3	2	3	4	2	2	3	0	0	rs149105551	byFrequency	TCGA-EJ-5531-01A-01D-1576-08	TCGA-EJ-5531-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729e845e-9b3f-47df-9400-07a81f3a5c12	85790f6e-85d7-4f6a-8784-4900d2364873	g.chr1:152281970G>T	ENST00000368799.1	-	3	5427	c.5392C>A	c.(5392-5394)Cga>Aga	p.R1798R	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1798	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GAGCTGTCTCGTGCCTGCTCG	0.597									Ichthyosis																													ENST00000368799.1																			0				autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424						c.(5392-5394)Cga>Aga		filaggrin							279	288	285					1																	152281970		2203	4300	6503	SO:0001819	synonymous_variant	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152281970G>T	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"EF-hand domain containing"	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.5392C>A	1.37:g.152281970G>T						FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	p.R1798R	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	5427	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1798			Ser-rich.		Q01720|Q5T583|Q9UC71	Silent	SNP	ENST00000368799.1	37	c.5392C>A	CCDS30860.1																																																																																				0.597	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		9	561	1	0	0.335167	0.335167	0.339255	9	561					T	152281970	G	T	152281970	2	4	75	1	0	0	0	0	0	0	0	1	5922	1153	40	5		5	FLG	1	152281970	Silent	SNP	G	TCGA-EJ-5531-01A-01D-1576-08	65691007	152281970	96968651	3	3922											
ETV3L	440695	broad.mit.edu	37	chr1	157067666	157067666	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttgagcactcacggtagaCgctgctgctgctccccttct	5	11	9	16	2	2	2	1	1	1	1	3	2	3	2	3	1	4	6	3	1	1	3	rs202076672		TCGA-EJ-5531-01A-01D-1576-08	TCGA-EJ-5531-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729e845e-9b3f-47df-9400-07a81f3a5c12	85790f6e-85d7-4f6a-8784-4900d2364873	g.chr1:157067666C>T	ENST00000454449.2	-	4	885	c.601G>A	c.(601-603)Gtc>Atc	p.V201I		NM_001004341.2	NP_001004341.1	Q6ZN32	ETV3L_HUMAN	ets variant 3-like	201					cell differentiation (GO:0030154)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)	p.V201I(3)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24	Hepatocellular(266;0.158)	Prostate(1639;0.184)				TCACGGTAGACGCTGCTGCTG	0.632													C|||	1	0.000199681	8e-04	0	5008	,	,		17793	0		0	False		,,,				2504	0					ENST00000454449.2																			3	Substitution - Missense(3)	p.V201I(3)	prostate(2)|endometrium(1)	breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24						c.(601-603)Gtc>Atc		ets variant 3-like		C	ILE/VAL	0,4406		0,0,2203	104	106	105		601	-4.1	0	1		105	2,8598	2.2+/-6.3	0,2,4298	yes	missense	ETV3L	NM_001004341.2	29	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	benign	201/362	157067666	2,13004	2203	4300	6503	SO:0001583	missense	440695					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr1:157067666C>T	AK131392	CCDS30893.1	1q23.1	2013-09-24	2008-09-12		ENSG00000253831	ENSG00000253831			33834	protein-coding gene	gene with protein product			"ets variant gene 3-like"				Standard	NM_001004341		Approved	FLJ16478	uc001fqq.2	Q6ZN32	OTTHUMG00000041325	ENST00000454449.2:c.601G>A	1.37:g.157067666C>T	ENSP00000430271:p.Val201Ile						p.V201I	NM_001004341.2	NP_001004341.1	Q6ZN32	ETV3L_HUMAN			4	885	-	Hepatocellular(266;0.158)	Prostate(1639;0.184)	201						Missense_Mutation	SNP	ENST00000454449.2	37	c.601G>A	CCDS30893.1	.	.	.	.	.	.	.	.	.	.	C	0.014	-1.576990	0.00887	0.0	2.33E-4	ENSG00000253831	ENST00000454449	T	0.08896	3.04	3.16	-4.05	0.03998	.	.	.	.	.	T	0.00875	0.0029	N	0.12182	0.205	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.48269	-0.9050	9	0.09590	T	0.72	.	5.5942	0.17317	0.0:0.5051:0.1466:0.3483	.	201	Q6ZN32	ETV3L_HUMAN	I	201	ENSP00000430271:V201I	ENSP00000430271:V201I	V	-	1	0	ETV3L	155334290	0.000000	0.05858	0.000000	0.03702	0.061000	0.15899	-1.754000	0.01816	-0.971000	0.03564	-1.528000	0.00924	GTC		0.632	ETV3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000099024.2	NM_001004341		25	202	0	0	0	0.717897	0	25	202					T	157067666	C	T	157067666	3	4	75	1	0	0	0	0	1	0	0	0	5280	536	19	1	492	1	ETV3L	1	157067666	Missense_Mutation	SNP	C	TCGA-EJ-5531-01A-01D-1576-08	4785696	157067666	92182955	4	3923											
INTS7	25896	broad.mit.edu	37	chr1	212118153	212118153	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcttgtccagatttactctgCagtgtggaagaaacattcag	11	13	9	8	0	3	2	1	0	2	2	4	3	4	3	1	1	3	1	1	1	3	4			TCGA-EJ-5531-01A-01D-1576-08	TCGA-EJ-5531-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729e845e-9b3f-47df-9400-07a81f3a5c12	85790f6e-85d7-4f6a-8784-4900d2364873	g.chr1:212118153C>T	ENST00000366994.3	-	19	2678	c.2574G>A	c.(2572-2574)ctG>ctA	p.L858L	INTS7_ENST00000366992.3_Silent_p.L838L|INTS7_ENST00000469606.1_5'UTR|INTS7_ENST00000366993.3_Silent_p.L844L|INTS7_ENST00000440600.2_Silent_p.L809L	NM_001199811.1|NM_001199812.1|NM_015434.3	NP_001186740.1|NP_001186741.1|NP_056249.1	Q9NVH2	INT7_HUMAN	integrator complex subunit 7	858					cellular response to ionizing radiation (GO:0071479)|DNA damage checkpoint (GO:0000077)|snRNA processing (GO:0016180)	chromosome (GO:0005694)|integrator complex (GO:0032039)		p.L858L(1)		NS(1)|breast(1)|kidney(1)|large_intestine(8)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20				OV - Ovarian serous cystadenocarcinoma(81;0.00584)|all cancers(67;0.0318)|Epithelial(68;0.0852)		ATTTACTCTGCAGTGTGGAAG	0.423																																						ENST00000366994.3																			1	Substitution - coding silent(1)	p.L858L(1)	prostate(1)	NS(1)|breast(1)|kidney(1)|large_intestine(8)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						c.(2572-2574)ctG>ctA		integrator complex subunit 7							176	174	175					1																	212118153		2203	4300	6503	SO:0001819	synonymous_variant	25896				snRNA processing	integrator complex	protein binding	g.chr1:212118153C>T	AK022509	CCDS1501.1, CCDS55684.1, CCDS55683.1, CCDS55685.1	1q32.3	2008-02-05	2006-03-15	2006-03-15	ENSG00000143493	ENSG00000143493			24484	protein-coding gene	gene with protein product		611350	"chromosome 1 open reading frame 73"	C1orf73		16239144	Standard	NM_015434		Approved	DKFZP434B168, INT7	uc001hiw.2	Q9NVH2	OTTHUMG00000037119	ENST00000366994.3:c.2574G>A	1.37:g.212118153C>T						INTS7_ENST00000366993.3_Silent_p.L844L|INTS7_ENST00000469606.1_5'UTR|INTS7_ENST00000440600.2_Silent_p.L809L|INTS7_ENST00000366992.3_Silent_p.L838L	p.L858L	NM_001199811.1|NM_001199812.1|NM_015434.3	NP_001186740.1|NP_001186741.1|NP_056249.1	Q9NVH2	INT7_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.00584)|all cancers(67;0.0318)|Epithelial(68;0.0852)	19	2678	-			858					B4DLZ6|B7WNP6|B7WPB6|Q8N4K7|Q8WUH5|Q9H9V3|Q9NVU5|Q9UFC6|Q9UFM3	Silent	SNP	ENST00000366994.3	37	c.2574G>A	CCDS1501.1																																																																																				0.423	INTS7-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090142.1	NM_015434		24	160	0	0	0	0.654019	0	24	160					T	212118153	C	T	212118153	2	4	75	1	0	0	0	0	0	0	0	1	7783	697	25	3		3	INTS7	1	212118153	Silent	SNP	C	TCGA-EJ-5531-01A-01D-1576-08	55050487	212118153	37132468	5	3924											
SLC26A6	65010	broad.mit.edu	37	chr3	48669168	48669168	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	caccacgagcaccaccccagCcacagctgcagtgaccacgg	11	2	9	19	2	0	1	0	1	0	0	0	2	0	1	6	1	4	3	6	1	0	0			TCGA-EJ-5531-01A-01D-1576-08	TCGA-EJ-5531-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729e845e-9b3f-47df-9400-07a81f3a5c12	85790f6e-85d7-4f6a-8784-4900d2364873	g.chr3:48669168C>A	ENST00000395550.2	-	7	864	c.817G>T	c.(817-819)Gct>Tct	p.A273S	SLC26A6_ENST00000358747.6_Missense_Mutation_p.A252S|SLC26A6_ENST00000420764.2_Missense_Mutation_p.A273S|SLC26A6_ENST00000383733.3_Missense_Mutation_p.A273S|SLC26A6_ENST00000337000.8_Missense_Mutation_p.A166S|SLC26A6_ENST00000455886.2_Missense_Mutation_p.A237S|SLC26A6_ENST00000482282.1_5'UTR			Q9BXS9	S26A6_HUMAN	solute carrier family 26 (anion exchanger), member 6	273					angiotensin-activated signaling pathway (GO:0038166)|anion transport (GO:0006820)|bicarbonate transport (GO:0015701)|cellular response to cAMP (GO:0071320)|cellular response to fructose stimulus (GO:0071332)|cellular response to interferon-gamma (GO:0071346)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|epithelial fluid transport (GO:0042045)|formate transport (GO:0015724)|intestinal absorption (GO:0050892)|intracellular pH elevation (GO:0051454)|ion transport (GO:0006811)|mannitol transport (GO:0015797)|oxalate transport (GO:0019532)|oxalic acid secretion (GO:0046724)|positive regulation of dipeptide transmembrane transport (GO:2001150)|protein kinase C signaling (GO:0070528)|regulation of intracellular pH (GO:0051453)|sperm capacitation (GO:0048240)|sulfate transmembrane transport (GO:1902358)|sulfate transport (GO:0008272)|transepithelial chloride transport (GO:0030321)|transepithelial transport (GO:0070633)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|chloride channel complex (GO:0034707)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane-bounded vesicle (GO:0031988)|plasma membrane (GO:0005886)|sperm midpiece (GO:0097225)|vesicle membrane (GO:0012506)	anion:anion antiporter activity (GO:0015301)|bicarbonate transmembrane transporter activity (GO:0015106)|chloride channel activity (GO:0005254)|chloride transmembrane transporter activity (GO:0015108)|efflux transmembrane transporter activity (GO:0015562)|formate efflux transmembrane transporter activity (GO:0015660)|formate transmembrane transporter activity (GO:0015499)|formate uptake transmembrane transporter activity (GO:0015659)|oxalate transmembrane transporter activity (GO:0019531)|PDZ domain binding (GO:0030165)|secondary active sulfate transmembrane transporter activity (GO:0008271)|sulfate transmembrane transporter activity (GO:0015116)		SLC26A6/PRKAR2A(2)	NS(1)|breast(1)|cervix(1)|endometrium(3)|large_intestine(1)|lung(11)|ovary(1)	19				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00609)		ACCACCCCAGCCACAGCTGCA	0.627																																					NSCLC(13;369 479 28271 30152 44026)	ENST00000358747.6																		SLC26A6/PRKAR2A(2)	0				NS(1)|breast(1)|cervix(1)|endometrium(3)|large_intestine(1)|lung(11)|ovary(1)	19						c.(754-756)Gct>Tct		solute carrier family 26 (anion exchanger), member 6							83	92	89					3																	48669168		2191	4273	6464	SO:0001583	missense	65010							g.chr3:48669168C>A	AF279265	CCDS43087.1, CCDS46824.1, CCDS46825.1, CCDS46826.1, CCDS63627.1, CCDS63628.1	3p21.31	2013-08-05	2013-07-18		ENSG00000225697	ENSG00000225697		"Solute carriers"	14472	protein-coding gene	gene with protein product	"pendrin-like protein 1", "pendrin L1", "sulfate anion transporter", "anion transporter 1"	610068	"solute carrier family 26, member 6"			11087667, 11247665	Standard	NM_022911		Approved	DKFZp586E1422		Q9BXS9	OTTHUMG00000186381	ENST00000395550.2:c.817G>T	3.37:g.48669168C>A	ENSP00000378920:p.Ala273Ser					SLC26A6_ENST00000383733.3_Missense_Mutation_p.A273S|SLC26A6_ENST00000455886.2_Missense_Mutation_p.A237S|SLC26A6_ENST00000395550.2_Missense_Mutation_p.A273S|SLC26A6_ENST00000337000.8_Missense_Mutation_p.A166S|SLC26A6_ENST00000482282.1_5'UTR|SLC26A6_ENST00000420764.2_Missense_Mutation_p.A273S	p.A252S	NM_001040454.1	NP_001035544.1				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00609)	6	1004	-								B4DMZ1|Q548A7|Q96Q90|Q9NQU1	Missense_Mutation	SNP	ENST00000395550.2	37	c.754G>T	CCDS43087.1	.	.	.	.	.	.	.	.	.	.	C	17.50	3.404201	0.62288	.	.	ENSG00000225697	ENST00000420764;ENST00000395550;ENST00000383733;ENST00000337000;ENST00000447978;ENST00000358747;ENST00000455886	D;D;D;D;D;D	0.93247	-3.19;-3.19;-3.19;-3.19;-3.19;-3.19	5.37	3.47	0.39725	Sulphate transporter (1);	.	.	.	.	D	0.89107	0.6621	N	0.10837	0.055	0.32038	N	0.59863	P;B;P;P;P;P;B	0.50710	0.938;0.246;0.815;0.542;0.699;0.938;0.17	P;B;P;B;P;P;B	0.55345	0.774;0.444;0.551;0.279;0.557;0.669;0.047	D	0.84370	0.0543	9	0.09590	T	0.72	.	12.7097	0.57082	0.432:0.568:0.0:0.0	.	237;286;166;273;273;273;3678	B4DMZ1;Q86YZ4;G3XAC1;Q9BXS9-2;Q548A7;Q9BXS9;Q5Y190	.;.;.;.;.;S26A6_HUMAN;.	S	273;273;273;166;286;252;237	ENSP00000404684:A273S;ENSP00000378920:A273S;ENSP00000373239:A273S;ENSP00000337648:A166S;ENSP00000351597:A252S;ENSP00000401066:A237S	ENSP00000337648:A166S	A	-	1	0	SLC26A6	48644172	0.329000	0.24696	0.858000	0.33744	0.120000	0.20174	0.489000	0.22387	0.551000	0.29008	0.563000	0.77884	GCT		0.627	SLC26A6-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000345040.1	NM_022911		5	214	1	0	0.0293803	0.248553	0.030868	5	214					A	48669168	C	A	48669168	3	1	75	1	0	0	0	0	1	0	0	0	14521	739	26	5	1558	5	SLC26A6	3	48669168	Missense_Mutation	SNP	C	TCGA-EJ-5531-01A-01D-1576-08		48669168	149353262	6	3925											
MYH15	22989	broad.mit.edu	37	chr3	108156457	108156457	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tccaggttctccatactttcCcgattcagctttaaattgcc	8	15	5	13	1	2	0	1	0	1	0	5	1	4	0	4	1	3	2	4	1	3	7			TCGA-EJ-5531-01A-01D-1576-08	TCGA-EJ-5531-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729e845e-9b3f-47df-9400-07a81f3a5c12	85790f6e-85d7-4f6a-8784-4900d2364873	g.chr3:108156457C>G	ENST00000273353.3	-	26	3281	c.3225G>C	c.(3223-3225)cgG>cgC	p.R1075R		NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN	myosin, heavy chain 15	1075						cytoplasm (GO:0005737)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						CCATACTTTCCCGATTCAGCT	0.488																																						ENST00000273353.3																			0				NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						c.(3223-3225)cgG>cgC		myosin, heavy chain 15							232	226	228					3																	108156457		1920	4141	6061	SO:0001819	synonymous_variant	22989					myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity	g.chr3:108156457C>G	AB023217	CCDS43127.1	3q13	2011-09-27	2006-09-29		ENSG00000144821	ENSG00000144821		"Myosins / Myosin superfamily : Class II"	31073	protein-coding gene	gene with protein product		609929	"myosin, heavy polypeptide 15"			15014174, 15042088	Standard	NM_014981		Approved	KIAA1000	uc003dxa.1	Q9Y2K3	OTTHUMG00000159226	ENST00000273353.3:c.3225G>C	3.37:g.108156457C>G							p.R1075R	NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN			26	3281	-			1075						Silent	SNP	ENST00000273353.3	37	c.3225G>C	CCDS43127.1																																																																																				0.488	MYH15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353935.1	XM_036988		7	324	0	0	0	0.248553	0	7	324					G	108156457	C	G	108156457	2	3	75	1	0	0	0	0	0	0	0	1	10034	610	22	5		5	MYH15	3	108156457	Silent	SNP	C	TCGA-EJ-5531-01A-01D-1576-08	59487289	108156457	89865973	7	3926											
GOLGB1	2804	broad.mit.edu	37	chr3	121409629	121409629	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcttcccttcctctgactttCgaaatttctccagctcattc	6	16	4	15	1	3	1	1	1	2	0	8	2	5	1	3	0	1	2	3	0	1	5	rs529043980		TCGA-EJ-5531-01A-01D-1576-08	TCGA-EJ-5531-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729e845e-9b3f-47df-9400-07a81f3a5c12	85790f6e-85d7-4f6a-8784-4900d2364873	g.chr3:121409629C>T	ENST00000340645.5	-	14	8692	c.8567G>A	c.(8566-8568)cGa>cAa	p.R2856Q	GOLGB1_ENST00000393667.3_Missense_Mutation_p.R2861Q	NM_001256487.1|NM_001256488.1|NM_004487.4	NP_001243416.1|NP_001243417.1|NP_004478.3	Q14789	GOGB1_HUMAN	golgin B1	2856					Golgi organization (GO:0007030)	cis-Golgi network (GO:0005801)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		CTCTGACTTTCGAAATTTCTC	0.458																																						ENST00000393667.3																			0				NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119						c.(8581-8583)cGa>cAa		golgin B1							62	60	61					3																	121409629		2203	4300	6503	SO:0001583	missense	2804				Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding	g.chr3:121409629C>T	X75304	CCDS3004.1, CCDS58847.1, CCDS74989.1	3q13	2010-02-12	2010-02-12	2007-07-27	ENSG00000173230	ENSG00000173230			4429	protein-coding gene	gene with protein product	"macrogolgin", "golgi integral membrane protein 1"	602500	"golgi autoantigen, golgin subfamily b, macrogolgin (with transmembrane signal), 1", "golgin B1, golgi integral membrane protein"			7691276, 15004235	Standard	NM_001256486		Approved	GCP, GCP372, giantin, GOLIM1	uc010hrc.4	Q14789	OTTHUMG00000159411	ENST00000340645.5:c.8567G>A	3.37:g.121409629C>T	ENSP00000341848:p.Arg2856Gln					GOLGB1_ENST00000340645.5_Missense_Mutation_p.R2856Q	p.R2861Q	NM_001256486.1	NP_001243415.1	Q14789	GOGB1_HUMAN		GBM - Glioblastoma multiforme(114;0.0989)	14	8692	-			2856					B2ZZ91|D3DN92|E7EP74|Q14398	Missense_Mutation	SNP	ENST00000340645.5	37	c.8582G>A	CCDS3004.1	.	.	.	.	.	.	.	.	.	.	C	13.90	2.375656	0.42105	.	.	ENSG00000173230	ENST00000340645;ENST00000393667	T;T	0.17370	2.28;2.28	5.3	4.43	0.53597	.	0.000000	0.64402	D	0.000017	T	0.23014	0.0556	L	0.29908	0.895	0.38707	D	0.953125	D;D;D	0.89917	1.0;0.992;1.0	D;P;D	0.83275	0.996;0.602;0.992	T	0.15723	-1.0427	10	0.14252	T	0.57	.	7.4073	0.26998	0.0:0.7441:0.1681:0.0878	.	2861;2861;2856	E7EP74;B2ZZ91;Q14789	.;.;GOGB1_HUMAN	Q	2856;2861	ENSP00000341848:R2856Q;ENSP00000377275:R2861Q	ENSP00000341848:R2856Q	R	-	2	0	GOLGB1	122892319	0.719000	0.27986	0.993000	0.49108	0.985000	0.73830	1.472000	0.35376	1.473000	0.48159	0.655000	0.94253	CGA		0.458	GOLGB1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000355159.1	NM_004487		4	46	0	0	0	0.217242	0	4	46					T	121409629	C	T	121409629	3	4	75	1	0	0	0	0	1	0	0	0	6565	884	31	2	1248	2	GOLGB1	3	121409629	Missense_Mutation	SNP	C	TCGA-EJ-5531-01A-01D-1576-08	13253172	121409629	76612801	8	3927											
CRIPAK	285464	broad.mit.edu	37	chr4	1389462	1389463	+	Frame_Shift_Del	DEL	CG	CG	-																															agtgcctgcctgctcacacaCgtgcccatgtggagtgcccg																										TCGA-EJ-5531-01A-01D-1576-08	TCGA-EJ-5531-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729e845e-9b3f-47df-9400-07a81f3a5c12	85790f6e-85d7-4f6a-8784-4900d2364873	g.chr4:1389462_1389463delCG	ENST00000324803.4	+	1	4123_4124	c.1163_1164delCG	c.(1162-1164)acgfs	p.T388fs		NM_175918.3	NP_787114.2	Q8N1N5	CRPAK_HUMAN	cysteine-rich PAK1 inhibitor	388	Interaction with PAK1.				negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of protein kinase activity (GO:0006469)|regulation of cytoskeleton organization (GO:0051493)|response to estrogen (GO:0043627)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(1)	35			OV - Ovarian serous cystadenocarcinoma(23;0.0106)			TGCTCACACACGTGCCCATGTG	0.624																																						ENST00000324803.4																			0				NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(1)	35						c.(1162-1164)afs		cysteine-rich PAK1 inhibitor																																				SO:0001589	frameshift_variant	285464				ER-nucleus signaling pathway|negative regulation of protein kinase activity|regulation of cytoskeleton organization|response to estrogen stimulus	endoplasmic reticulum|nucleus|plasma membrane	protein binding	g.chr4:1389462_1389463delCG	AK096209	CCDS3349.1	4p16.3	2011-02-10	2006-09-04		ENSG00000179979	ENSG00000179979			26619	protein-coding gene	gene with protein product		610203	"cysteine-rich PAK1inhibitor"			16278681	Standard	NM_175918		Approved	FLJ34443	uc003gdf.2	Q8N1N5	OTTHUMG00000121131	ENST00000324803.4:c.1163_1164delCG	4.37:g.1389462_1389463delCG	ENSP00000323978:p.Thr388fs						p.T388fs	NM_175918.3	NP_787114.2	Q8N1N5	CRPAK_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.0106)		1	4123_4124	+			388			Interaction with PAK1.		Q8NB03	Frame_Shift_Del	DEL	ENST00000324803.4	37	c.1163_1164delCG	CCDS3349.1																																																																																				0.624	CRIPAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241607.2	NM_175918		7	513						7	513	---	---	---	---	-	1389463	CG	-	1389462	7	5	75	1	0	1	0	1	0	0	0	0	3877	536	19	0	1165	0	CRIPAK	4	1389462	Frame_Shift_Del	DEL	CG	TCGA-EJ-5531-01A-01D-1576-08		1389462	189764814	9	3928											
MAML3	55534	broad.mit.edu	37	chr4	140811117	140811117	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgctgctgctgctgctgctgCtgctgttgctgttgctgttt	0	18	13	10	0	0	0	0	0	0	0	0	0	0	0	0	0	10	13	0	0	0	3	rs62344938		TCGA-EJ-5531-01A-01D-1576-08	TCGA-EJ-5531-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729e845e-9b3f-47df-9400-07a81f3a5c12	85790f6e-85d7-4f6a-8784-4900d2364873	g.chr4:140811117C>T	ENST00000509479.2	-	2	2329	c.1473G>A	c.(1471-1473)caG>caA	p.Q491Q	MAML3_ENST00000327122.5_Silent_p.Q335Q|MAML3_ENST00000398940.1_Silent_p.Q30Q	NM_018717.4	NP_061187			mastermind-like 3 (Drosophila)											breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25	all_hematologic(180;0.162)					gctgctgctgctgctgttgct	0.547																																						ENST00000509479.2																			0				breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25						c.(1471-1473)caG>caA		mastermind-like 3 (Drosophila)							16	20	18					4																	140811117		2191	4287	6478	SO:0001819	synonymous_variant	55534				Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity	g.chr4:140811117C>T	AB058719	CCDS54805.1	4q31.1	2014-08-12	2003-09-24		ENSG00000196782	ENSG00000196782			16272	protein-coding gene	gene with protein product	"mastermind (drosophila)-like 3"	608991	"trinucleotide repeat containing 3"	TNRC3		12370315, 12386158	Standard	NM_018717		Approved	KIAA1816, MAM2, CAGH3, GDN	uc021xsg.1	Q96JK9	OTTHUMG00000161441	ENST00000509479.2:c.1473G>A	4.37:g.140811117C>T						MAML3_ENST00000398940.1_Silent_p.Q30Q|MAML3_ENST00000327122.5_Silent_p.Q335Q	p.Q491Q	NM_018717.4	NP_061187.2	Q96JK9	MAML3_HUMAN			2	2329	-	all_hematologic(180;0.162)		491			Gln-rich.			Silent	SNP	ENST00000509479.2	37	c.1473G>A	CCDS54805.1																																																																																				0.547	MAML3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364934.2			7	27	0	0	0	0.27861	0	7	27					T	140811117	C	T	140811117	2	4	75	1	0	0	0	0	0	0	0	1	9207	796	28	3		3	MAML3	4	140811117	Silent	SNP	C	TCGA-EJ-5531-01A-01D-1576-08	139421655	140811117	50343159	10	3929											
OTUD4	54726	broad.mit.edu	37	chr4	146077123	146077125	+	In_Frame_Del	DEL	CAG	CAG	-																															aggtttaaatccattcacatCagcagcagcagcagcagtct																								rs150581210		TCGA-EJ-5531-01A-01D-1576-08	TCGA-EJ-5531-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729e845e-9b3f-47df-9400-07a81f3a5c12	85790f6e-85d7-4f6a-8784-4900d2364873	g.chr4:146077123_146077125delCAG	ENST00000447906.2	-	8	840_842	c.653_655delCTG	c.(652-657)gctgat>gat	p.A218del	OTUD4_ENST00000455611.2_5'UTR|OTUD4_ENST00000454497.2_In_Frame_Del_p.A153del			Q01804	OTUD4_HUMAN	OTU deubiquitinase 4	218					protein K48-linked deubiquitination (GO:0071108)		poly(A) RNA binding (GO:0044822)|ubiquitin-specific protease activity (GO:0004843)			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33	all_hematologic(180;0.151)					CCATTCACATCAGCAGCAGCAGC	0.34																																						ENST00000454497.2																			0				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33						c.(457-462)gat>g		OTU domain containing 4																																				SO:0001651	inframe_deletion	54726						protein binding	g.chr4:146077123_146077125delCAG		CCDS3764.1, CCDS47139.1	4q31.21	2014-02-24	2014-02-24		ENSG00000164164	ENSG00000164164		"OTU domain containing"	24949	protein-coding gene	gene with protein product		611744	"OTU domain containing 4"			1475186, 12727813, 19996094	Standard	NM_001102653		Approved	HSHIN1, KIAA1046, DUBA6	uc003ika.4	Q01804	OTTHUMG00000161480	ENST00000447906.2:c.653_655delCTG	4.37:g.146077132_146077134delCAG	ENSP00000395487:p.Ala218del					OTUD4_ENST00000455611.2_5'UTR|OTUD4_ENST00000447906.2_In_Frame_Del_p.AD218del	p.AD153del	NM_001102653.1	NP_001096123.1	Q01804	OTUD4_HUMAN			8	595_597	-	all_hematologic(180;0.151)		218			OTU.		B4DYS4|Q147U2|Q1ZYK1|Q6PG39|Q96MQ5|Q9NT94|Q9UPV6	In_Frame_Del	DEL	ENST00000447906.2	37	c.458_460delCTG																																																																																					0.34	OTUD4-004	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000365117.2	NM_017493		7	175						7	175	---	---	---	---	-	146077125	CAG	-	146077123	7	5	75	1	0	1	0	1	0	0	0	0	11314	826	29	0	2745	0	OTUD4	4	146077123	In_Frame_Del	DEL	CAG	TCGA-EJ-5531-01A-01D-1576-08	5266006	146077123	45077153	11	3930											
ZNF827	152485	broad.mit.edu	37	chr4	146824230	146824230	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cggggacgtggactgctcctGgatccggtcctccagagaca	7	7	14	13	3	0	1	0	0	0	1	4	5	4	4	4	5	1	1	4	5	0	0			TCGA-EJ-5531-01A-01D-1576-08	TCGA-EJ-5531-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729e845e-9b3f-47df-9400-07a81f3a5c12	85790f6e-85d7-4f6a-8784-4900d2364873	g.chr4:146824230G>A	ENST00000508784.1	-	2	408	c.181C>T	c.(181-183)Cag>Tag	p.Q61*	ZNF827_ENST00000379448.4_Nonsense_Mutation_p.Q61*|ZNF827_ENST00000513320.1_Intron			Q17R98	ZN827_HUMAN	zinc finger protein 827	61					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.Q61*(2)		NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48	all_hematologic(180;0.151)					GACTGCTCCTGGATCCGGTCC	0.567																																						ENST00000508784.1																			2	Substitution - Nonsense(2)	p.Q61*(2)	prostate(2)	NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						c.(181-183)Cag>Tag		zinc finger protein 827							83	78	80					4																	146824230		2203	4300	6503	SO:0001587	stop_gained	152485				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr4:146824230G>A	AK091130	CCDS34072.1	4q31.22	2013-01-08			ENSG00000151612	ENSG00000151612		"Zinc fingers, C2H2-type"	27193	protein-coding gene	gene with protein product						12477932	Standard	NM_178835		Approved		uc003ikm.3	Q17R98	OTTHUMG00000161362	ENST00000508784.1:c.181C>T	4.37:g.146824230G>A	ENSP00000421863:p.Gln61*					ZNF827_ENST00000379448.4_Nonsense_Mutation_p.Q61*|ZNF827_ENST00000513320.1_Intron	p.Q61*			Q17R98	ZN827_HUMAN			2	408	-	all_hematologic(180;0.151)		61					B7ZL52|Q7Z4S7|Q8N279	Nonsense_Mutation	SNP	ENST00000508784.1	37	c.181C>T		.	.	.	.	.	.	.	.	.	.	G	38	7.196094	0.98129	.	.	ENSG00000151612	ENST00000508784;ENST00000379448;ENST00000281318	.	.	.	5.93	5.93	0.95920	.	0.284088	0.41938	D	0.000787	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.42905	T	0.14	-8.5678	20.3437	0.98782	0.0:0.0:1.0:0.0	.	.	.	.	X	61;61;60	.	ENSP00000281318:Q60X	Q	-	1	0	ZNF827	147043680	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.184000	0.94893	2.815000	0.96918	0.561000	0.74099	CAG		0.567	ZNF827-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000364654.2	NM_178835		14	79	0	0	0	0.479597	0	14	79					A	146824230	G	A	146824230	4	1	75	1	0	0	0	0	0	1	0	0	18177	1357	47	3	3100	3	ZNF827	4	146824230	Nonsense_Mutation	SNP	G	TCGA-EJ-5531-01A-01D-1576-08	747107	146824230	44330046	12	3931											
NAF1	92345	broad.mit.edu	37	chr4	164050124	164050124	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtggtggagggggagggggTgggggtagggagtatggtaa	8	7	26	0	0	0	0	0	0	0	0	0	3	0	3	0	10	0	3	0	10	3	3			TCGA-EJ-5531-01A-01D-1576-08	TCGA-EJ-5531-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729e845e-9b3f-47df-9400-07a81f3a5c12	85790f6e-85d7-4f6a-8784-4900d2364873	g.chr4:164050124T>G	ENST00000274054.2	-	8	1603	c.1410A>C	c.(1408-1410)ccA>ccC	p.P470P	NAF1_ENST00000422287.2_Intron|NAF1_ENST00000509434.1_Intron	NM_138386.2	NP_612395.2	Q96HR8	NAF1_HUMAN	nuclear assembly factor 1 ribonucleoprotein	470	Pro-rich.				pseudouridine synthesis (GO:0001522)|ribosome biogenesis (GO:0042254)|rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|small nucleolar ribonucleoprotein complex (GO:0005732)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(3)|large_intestine(1)|lung(10)|ovary(2)	21	all_hematologic(180;0.166)	Prostate(90;0.109)				ggggagggggtgggggtaggg	0.522																																						ENST00000274054.2																			0				NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(3)|large_intestine(1)|lung(10)|ovary(2)	21						c.(1408-1410)ccA>ccC		nuclear assembly factor 1 ribonucleoprotein							10	10	10					4																	164050124		2188	4274	6462	SO:0001819	synonymous_variant	92345				rRNA processing|snRNA pseudouridine synthesis	cytoplasm|nucleus|small nucleolar ribonucleoprotein complex	protein binding|snoRNA binding	g.chr4:164050124T>G		CCDS3803.1, CCDS47159.1	4q32.2	2013-03-05	2013-03-05			ENSG00000145414			25126	protein-coding gene	gene with protein product			"nuclear assembly factor 1 homolog (S. cerevisiae)"			16618814, 16601202	Standard	NM_138386		Approved		uc003iqj.3	Q96HR8		ENST00000274054.2:c.1410A>C	4.37:g.164050124T>G						NAF1_ENST00000509434.1_Intron|NAF1_ENST00000422287.2_Intron	p.P470P	NM_138386.2	NP_612395.2	Q96HR8	NAF1_HUMAN			8	1603	-	all_hematologic(180;0.166)	Prostate(90;0.109)	470			Pro-rich.		D3DP28|E9PAZ2	Silent	SNP	ENST00000274054.2	37	c.1410A>C	CCDS3803.1																																																																																				0.522	NAF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364684.2	NM_138386		5	9	0	0	0	0.361761	0	5	9					G	164050124	T	G	164050124	2	3	75	1	0	0	0	0	0	0	0	1	10140	1683	59	5		5	NAF1	4	164050124	Silent	SNP	T	TCGA-EJ-5531-01A-01D-1576-08	17225894	164050124	27104152	13	3932											
EEF1E1	9521	broad.mit.edu	37	chr6	8097597	8097597	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgattgctttttcttctgcaGtactccccagcaaatattct	8	16	5	12	1	3	0	0	0	3	0	4	1	4	0	2	0	4	4	2	0	3	7			TCGA-EJ-5531-01A-01D-1576-08	TCGA-EJ-5531-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729e845e-9b3f-47df-9400-07a81f3a5c12	85790f6e-85d7-4f6a-8784-4900d2364873	g.chr6:8097597G>A	ENST00000379715.5	-	2	247	c.191C>T	c.(190-192)aCt>aTt	p.T64I	EEF1E1_ENST00000429723.2_Missense_Mutation_p.T64I|EEF1E1_ENST00000507463.1_Missense_Mutation_p.T64I|EEF1E1-BLOC1S5_ENST00000397456.2_Missense_Mutation_p.T64I	NM_004280.4	NP_004271.1	O43324	MCA3_HUMAN	eukaryotic translation elongation factor 1 epsilon 1	64	C-terminal.|GST C-terminal.				gene expression (GO:0010467)|negative regulation of cell proliferation (GO:0008285)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)		p.T64I(1)		endometrium(1)|prostate(1)	2	Ovarian(93;0.0398)					TTCTTCTGCAGTACTCCCCAG	0.428																																						ENST00000379715.5																			1	Substitution - Missense(1)	p.T64I(1)	prostate(1)	endometrium(1)|prostate(1)	2						c.(190-192)aCt>aTt		eukaryotic translation elongation factor 1 epsilon 1							205	186	192					6																	8097597		2203	4300	6503	SO:0001583	missense	9521				negative regulation of cell proliferation|positive regulation of apoptosis|positive regulation of DNA damage response, signal transduction by p53 class mediator|tRNA aminoacylation for protein translation	cytosol|nucleus		g.chr6:8097597G>A	AF054186	CCDS4507.1, CCDS47370.1	6p24.3	2009-05-20			ENSG00000124802	ENSG00000124802			3212	protein-coding gene	gene with protein product	"aminoacyl tRNA synthetase complex-interacting multifunctional protein 3"	609206		P18		9653160	Standard	NM_004280		Approved	AIMP3	uc003mxz.3	O43324	OTTHUMG00000014221	ENST00000379715.5:c.191C>T	6.37:g.8097597G>A	ENSP00000369038:p.Thr64Ile					EEF1E1-MUTED_ENST00000397456.2_Missense_Mutation_p.T64I|EEF1E1_ENST00000429723.2_Missense_Mutation_p.T64I|EEF1E1_ENST00000507463.1_Missense_Mutation_p.T64I	p.T64I	NM_004280.4	NP_004271.1	O43324	MCA3_HUMAN			2	247	-	Ovarian(93;0.0398)		64			GST C-terminal.		C9JLK5|Q5THS2	Missense_Mutation	SNP	ENST00000379715.5	37	c.191C>T	CCDS4507.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.945224	0.73672	.	.	ENSG00000124802	ENST00000429723;ENST00000379715;ENST00000507463;ENST00000488226	T;T;T	0.14516	3.16;3.16;2.5	5.62	4.73	0.59995	Glutathione S-transferase, C-terminal-like (1);Glutathione S-transferase/chloride channel, C-terminal (1);Thioredoxin-like fold (1);	0.279774	0.41938	D	0.000790	T	0.08179	0.0204	L	0.59436	1.845	0.26349	N	0.977235	P;P	0.49635	0.926;0.772	B;B	0.41036	0.346;0.143	T	0.05321	-1.0892	9	.	.	.	-10.1686	16.3269	0.82986	0.0:0.1323:0.8676:0.0	.	64;64	C9JLK5;O43324	.;MCA3_HUMAN	I	64;64;64;76	ENSP00000414363:T64I;ENSP00000369038:T64I;ENSP00000425577:T76I	.	T	-	2	0	EEF1E1	8042596	0.815000	0.29118	0.445000	0.26908	0.994000	0.84299	2.809000	0.47971	1.324000	0.45282	0.655000	0.94253	ACT		0.428	EEF1E1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039799.2	NM_004280		18	162	0	0	0	0.539581	0	18	162					A	8097597	G	A	8097597	3	1	75	1	0	0	0	0	1	0	0	0	4927	1029	36	3	385	3	EEF1E1	6	8097597	Missense_Mutation	SNP	G	TCGA-EJ-5531-01A-01D-1576-08		8097597	163017470	14	3933											
HSP90AB1	3326	broad.mit.edu	37	chr6	44221299	44221299	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagatcccccctctcgagggCgatgaggatgcgtctcgcat	7	8	13	13	4	2	2	0	1	2	1	5	6	3	3	3	2	1	1	3	2	0	0	rs143048794	byFrequency	TCGA-EJ-5531-01A-01D-1576-08	TCGA-EJ-5531-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729e845e-9b3f-47df-9400-07a81f3a5c12	85790f6e-85d7-4f6a-8784-4900d2364873	g.chr6:44221299C>T	ENST00000371554.1	+	12	2353	c.2139C>T	c.(2137-2139)ggC>ggT	p.G713G	HSP90AB1_ENST00000353801.3_Silent_p.G713G|SLC35B2_ENST00000495706.1_5'Flank|HSP90AB1_ENST00000371646.5_Silent_p.G713G|MIR4647_ENST00000583964.1_RNA			P08238	HS90B_HUMAN	heat shock protein 90kDa alpha (cytosolic), class B member 1	713					axon guidance (GO:0007411)|cellular response to interleukin-4 (GO:0071353)|cellular response to organic cyclic compound (GO:0071407)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|placenta development (GO:0001890)|positive regulation of cell size (GO:0045793)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of protein binding (GO:0032092)|positive regulation of protein import into nucleus, translocation (GO:0033160)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|protein folding (GO:0006457)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to salt stress (GO:0009651)|response to unfolded protein (GO:0006986)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|inclusion body (GO:0016234)|membrane (GO:0016020)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|CTP binding (GO:0002135)|dATP binding (GO:0032564)|double-stranded RNA binding (GO:0003725)|GTP binding (GO:0005525)|MHC class II protein complex binding (GO:0023026)|nitric-oxide synthase regulator activity (GO:0030235)|poly(A) RNA binding (GO:0044822)|TPR domain binding (GO:0030911)|UTP binding (GO:0002134)	p.G713G(1)		NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(12)|prostate(2)|skin(2)|urinary_tract(2)	33	all_cancers(18;1.7e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			CTCTCGAGGGCGATGAGGATG	0.498											OREG0017471	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000371554.1																			1	Substitution - coding silent(1)	p.G713G(1)	lung(1)	NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(12)|prostate(2)|skin(2)|urinary_tract(2)	33						c.(2137-2139)ggC>ggT		heat shock protein 90kDa alpha (cytosolic), class B member 1							79	82	81					6																	44221299		2203	4300	6503	SO:0001819	synonymous_variant	3326				axon guidance|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of nitric oxide biosynthetic process|protein folding|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to unfolded protein	cytosol|melanosome	ATP binding|nitric-oxide synthase regulator activity|TPR domain binding|unfolded protein binding	g.chr6:44221299C>T	AF275719	CCDS4909.1	6p12	2011-09-02	2006-02-24	2006-02-24	ENSG00000096384	ENSG00000096384		"Heat shock proteins / HSPC"	5258	protein-coding gene	gene with protein product		140572	"heat shock 90kD protein 1, beta", "heat shock 90kDa protein 1, beta"	HSPC2, HSPCB		2768249, 16269234	Standard	NM_001271969		Approved		uc031sor.1	P08238	OTTHUMG00000014761	ENST00000371554.1:c.2139C>T	6.37:g.44221299C>T			OREG0017471	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	922	HSP90AB1_ENST00000371646.5_Silent_p.G713G|HSP90AB1_ENST00000353801.3_Silent_p.G713G	p.G713G			P08238	HS90B_HUMAN	Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		12	2353	+	all_cancers(18;1.7e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		713					B2R5P0|Q5T9W7|Q9NQW0|Q9NTK6	Silent	SNP	ENST00000371554.1	37	c.2139C>T	CCDS4909.1																																																																																				0.498	HSP90AB1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040730.1	NM_007355		15	72	0	0	0	0.592651	0	15	72					T	44221299	C	T	44221299	2	4	75	1	0	0	0	0	0	0	0	1	7402	755	27	1		1	HSP90AB1	6	44221299	Silent	SNP	C	TCGA-EJ-5531-01A-01D-1576-08	36123702	44221299	126893768	15	3934											
HCRTR2	3062	broad.mit.edu	37	chr6	55142195	55142195	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagatccctggaacatcatcTgtagttcagagaaaatggaa	15	9	9	8	0	3	2	2	0	1	2	4	5	4	4	1	2	1	2	1	2	5	2			TCGA-EJ-5531-01A-01D-1576-08	TCGA-EJ-5531-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729e845e-9b3f-47df-9400-07a81f3a5c12	85790f6e-85d7-4f6a-8784-4900d2364873	g.chr6:55142195T>C	ENST00000370862.3	+	5	1116	c.780T>C	c.(778-780)tcT>tcC	p.S260S		NM_001526.3	NP_001517.2	O43614	OX2R_HUMAN	hypocretin (orexin) receptor 2	260					circadian sleep/wake cycle process (GO:0022410)|feeding behavior (GO:0007631)|neuropeptide signaling pathway (GO:0007218)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neuropeptide receptor activity (GO:0008188)|orexin receptor activity (GO:0016499)			breast(3)|endometrium(2)|kidney(1)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	46	Lung NSC(77;0.107)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			GAACATCATCTGTAGTTCAGA	0.483																																						ENST00000370862.3																			0				breast(3)|endometrium(2)|kidney(1)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	46						c.(778-780)tcT>tcC		hypocretin (orexin) receptor 2							48	54	52					6																	55142195		2203	4300	6503	SO:0001819	synonymous_variant	3062				feeding behavior	integral to plasma membrane	neuropeptide receptor activity	g.chr6:55142195T>C	AF041245	CCDS4956.1	6p12.1	2012-09-20			ENSG00000137252	ENSG00000137252		"GPCR / Class A : Hypocretin (orexin) receptors"	4849	protein-coding gene	gene with protein product		602393				9491897	Standard	NM_001526		Approved	OX2R	uc003pcl.3	O43614	OTTHUMG00000016150	ENST00000370862.3:c.780T>C	6.37:g.55142195T>C							p.S260S	NM_001526.3	NP_001517.2	O43614	OX2R_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.23)		5	1116	+	Lung NSC(77;0.107)|Renal(3;0.122)		260					Q5VTM0	Silent	SNP	ENST00000370862.3	37	c.780T>C	CCDS4956.1																																																																																				0.483	HCRTR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043392.1			9	75	0	0	0	0.335167	0	9	75					C	55142195	T	C	55142195	2	2	75	1	0	0	0	0	0	0	0	1	7002	1567	55	4		4	HCRTR2	6	55142195	Silent	SNP	T	TCGA-EJ-5531-01A-01D-1576-08	10920896	55142195	115972872	16	3935											
IL7	3574	broad.mit.edu	37	chr8	79645969	79645969	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cagtgttctttagtgcccatCaaaattttattccaacaagt	12	15	5	9	0	2	0	1	0	1	0	3	0	3	0	2	0	2	1	2	0	6	6			TCGA-EJ-5531-01A-01D-1576-08	TCGA-EJ-5531-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729e845e-9b3f-47df-9400-07a81f3a5c12	85790f6e-85d7-4f6a-8784-4900d2364873	g.chr8:79645969C>G	ENST00000263851.4	-	6	1113	c.513G>C	c.(511-513)ttG>ttC	p.L171F	IL7_ENST00000520269.1_Missense_Mutation_p.L127F|IL7_ENST00000541183.1_Missense_Mutation_p.L58F|IL7_ENST00000519833.1_Intron	NM_000880.3|NM_001199886.1|NM_001199887.1	NP_000871.1|NP_001186815.1|NP_001186816.1	P13232	IL7_HUMAN	interleukin 7	171					bone resorption (GO:0045453)|cell-cell signaling (GO:0007267)|homeostasis of number of cells within a tissue (GO:0048873)|humoral immune response (GO:0006959)|negative regulation of apoptotic process (GO:0043066)|negative regulation of catalytic activity (GO:0043086)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|organ morphogenesis (GO:0009887)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cell proliferation (GO:0008284)|positive regulation of organ growth (GO:0046622)|positive regulation of T cell differentiation (GO:0045582)|regulation of gene expression (GO:0010468)|T cell lineage commitment (GO:0002360)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	growth factor activity (GO:0008083)|interleukin-7 receptor binding (GO:0005139)			endometrium(2)|large_intestine(2)|lung(1)	5						TAGTGCCCATCAAAATTTTAT	0.323																																						ENST00000263851.4																			0				endometrium(2)|large_intestine(2)|lung(1)	5						c.(511-513)ttG>ttC		interleukin 7							124	126	126					8																	79645969		2203	4299	6502	SO:0001583	missense	3574				bone resorption|cell-cell signaling|humoral immune response|organ morphogenesis|positive regulation of B cell proliferation|positive regulation of T cell differentiation	extracellular space	cytokine activity|growth factor activity|interleukin-7 receptor binding	g.chr8:79645969C>G	J04156	CCDS6224.1, CCDS56541.1, CCDS75755.1, CCDS75756.1	8q12-q13	2008-07-03				ENSG00000104432		"Interleukins and interleukin receptors"	6023	protein-coding gene	gene with protein product		146660					Standard	NM_000880		Approved	IL-7	uc003ybg.3	P13232		ENST00000263851.4:c.513G>C	8.37:g.79645969C>G	ENSP00000263851:p.Leu171Phe					IL7_ENST00000520269.1_Missense_Mutation_p.L127F|IL7_ENST00000541183.1_Missense_Mutation_p.L58F|IL7_ENST00000519833.1_Intron	p.L171F	NM_000880.3|NM_001199886.1|NM_001199887.1	NP_000871.1|NP_001186815.1|NP_001186816.1	P13232	IL7_HUMAN			6	1113	-			171					A0N0L3|Q5FBY5|Q5FBY9	Missense_Mutation	SNP	ENST00000263851.4	37	c.513G>C	CCDS6224.1	.	.	.	.	.	.	.	.	.	.	C	18.21	3.572997	0.65765	.	.	ENSG00000104432	ENST00000263851;ENST00000520269;ENST00000379114;ENST00000541183	T;T;T	0.56444	0.46;0.46;0.46	5.0	4.09	0.47781	.	0.168359	0.28940	N	0.013644	T	0.42944	0.1225	L	0.34521	1.04	0.80722	D	1	B;P	0.41008	0.439;0.735	B;B	0.42593	0.312;0.392	T	0.23868	-1.0176	9	.	.	.	.	10.6357	0.45563	0.1914:0.8086:0.0:0.0	.	171;127	P13232;Q5FBY9	IL7_HUMAN;.	F	171;127;124;58	ENSP00000263851:L171F;ENSP00000427750:L127F;ENSP00000438922:L58F	.	L	-	3	2	IL7	79808524	0.998000	0.40836	0.985000	0.45067	0.940000	0.58332	1.810000	0.38932	1.407000	0.46875	0.655000	0.94253	TTG		0.323	IL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379429.1			15	103	0	0	0	0.500413	0	15	103					G	79645969	C	G	79645969	3	3	75	1	0	0	0	0	1	0	0	0	7704	825	29	5	24	5	IL7	8	79645969	Missense_Mutation	SNP	C	TCGA-EJ-5531-01A-01D-1576-08		79645969	66718053	17	3936											
PKHD1L1	93035	broad.mit.edu	37	chr8	110439239	110439239	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgtgagtgcaggcctccccGctgctgtgtcagctgcagat	5	10	13	13	1	1	2	1	1	0	1	2	2	2	2	3	1	4	5	3	1	0	0	rs374191631		TCGA-EJ-5531-01A-01D-1576-08	TCGA-EJ-5531-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729e845e-9b3f-47df-9400-07a81f3a5c12	85790f6e-85d7-4f6a-8784-4900d2364873	g.chr8:110439239G>A	ENST00000378402.5	+	25	2958	c.2854G>A	c.(2854-2856)Gct>Act	p.A952T		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	952					immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)	p.A954T(1)|p.A952T(1)		NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			AGGCCTCCCCGCTGCTGTGTC	0.562										HNSCC(38;0.096)			G|||	1	0.000199681	0	0	5008	,	,		15755	0		0	False		,,,				2504	0.001					ENST00000378402.5																			2	Substitution - Missense(2)	p.A954T(1)|p.A952T(1)	prostate(2)	NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263						c.(2854-2856)Gct>Act		polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1		G	THR/ALA	0,3994		0,0,1997	73	75	75		2854	5.2	0.8	8		75	1,8331		0,1,4165	no	missense	PKHD1L1	NM_177531.4	58	0,1,6162	AA,AG,GG		0.012,0.0,0.0081	benign	952/4244	110439239	1,12325	1997	4166	6163	SO:0001583	missense	93035				immune response	cytosol|extracellular space|integral to membrane	receptor activity	g.chr8:110439239G>A	AY219181	CCDS47911.1	8q23	2003-03-28			ENSG00000205038	ENSG00000205038			20313	protein-coding gene	gene with protein product		607843				12620974	Standard	NM_177531		Approved		uc003yne.3	Q86WI1	OTTHUMG00000164934	ENST00000378402.5:c.2854G>A	8.37:g.110439239G>A	ENSP00000367655:p.Ala952Thr	HNSCC(38;0.096)					p.A952T	NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)		25	2958	+			952					Q567P2|Q9UF27	Missense_Mutation	SNP	ENST00000378402.5	37	c.2854G>A	CCDS47911.1	.	.	.	.	.	.	.	.	.	.	G	16.48	3.136030	0.56936	0.0	1.2E-4	ENSG00000205038	ENST00000378402	D	0.85702	-2.02	5.15	5.15	0.70609	.	0.072316	0.56097	D	0.000035	T	0.80232	0.4585	L	0.61036	1.89	0.26139	N	0.980304	P	0.41313	0.745	B	0.29942	0.109	T	0.76239	-0.3032	10	0.38643	T	0.18	.	14.4654	0.67480	0.0:0.0:1.0:0.0	.	952	Q86WI1	PKHL1_HUMAN	T	952	ENSP00000367655:A952T	ENSP00000367655:A952T	A	+	1	0	PKHD1L1	110508415	0.968000	0.33430	0.772000	0.31596	0.854000	0.48673	5.192000	0.65115	2.550000	0.86006	0.585000	0.79938	GCT		0.562	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381017.1	NM_177531		8	109	0	0	0	0.335167	0	8	109					A	110439239	G	A	110439239	3	1	75	1	0	0	0	0	1	0	0	0	11972	1087	38	1	2952	1	PKHD1L1	8	110439239	Missense_Mutation	SNP	G	TCGA-EJ-5531-01A-01D-1576-08	30793270	110439239	35924783	18	3937											
BAI1	575	broad.mit.edu	37	chr8	143558817	143558817	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtggccgtggctttcgggatCgcacgcgcacctgcaggccc	4	7	15	15	5	0	0	0	0	0	0	2	1	0	1	3	4	1	4	3	4	0	1			TCGA-EJ-5531-01A-01D-1576-08	TCGA-EJ-5531-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729e845e-9b3f-47df-9400-07a81f3a5c12	85790f6e-85d7-4f6a-8784-4900d2364873	g.chr8:143558817C>T	ENST00000517894.1	+	6	2188	c.1294C>T	c.(1294-1296)Cgc>Tgc	p.R432C	BAI1_ENST00000323289.5_Missense_Mutation_p.R432C			O14514	BAI1_HUMAN	brain-specific angiogenesis inhibitor 1	432	TSP type-1 3. {ECO:0000255|PROSITE- ProRule:PRU00210}.				axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell proliferation (GO:0008285)|neuropeptide signaling pathway (GO:0007218)|peripheral nervous system development (GO:0007422)|signal transduction (GO:0007165)	cell-cell junction (GO:0005911)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(28)|ovary(4)|pancreas(1)|prostate(7)	57	all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					CTTTCGGGATCGCACGCGCAC	0.652																																						ENST00000517894.1																			0				NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(28)|ovary(4)|pancreas(1)|prostate(7)	57						c.(1294-1296)Cgc>Tgc		brain-specific angiogenesis inhibitor 1							49	59	56					8																	143558817		2118	4217	6335	SO:0001583	missense	575				axonogenesis|cell adhesion|negative regulation of angiogenesis|negative regulation of cell proliferation|neuropeptide signaling pathway|peripheral nervous system development	cell-cell junction|integral to plasma membrane	G-protein coupled receptor activity|protein binding	g.chr8:143558817C>T	AB005297	CCDS64985.1	8q24.3	2014-08-08			ENSG00000181790	ENSG00000181790		"-", "GPCR / Class B : Orphans"	943	protein-coding gene	gene with protein product		602682				9533023	Standard	NM_001702		Approved		uc003ywm.3	O14514	OTTHUMG00000164732	ENST00000517894.1:c.1294C>T	8.37:g.143558817C>T	ENSP00000430945:p.Arg432Cys					BAI1_ENST00000323289.5_Missense_Mutation_p.R432C	p.R432C			O14514	BAI1_HUMAN			6	2188	+	all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)		432			TSP type-1 3.			Missense_Mutation	SNP	ENST00000517894.1	37	c.1294C>T		.	.	.	.	.	.	.	.	.	.	C	20.7	4.030349	0.75504	.	.	ENSG00000181790	ENST00000517894;ENST00000323289	T;T	0.80909	-1.43;-1.43	4.18	3.28	0.37604	.	0.000000	0.64402	U	0.000002	D	0.92570	0.7640	H	0.98664	4.295	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.92051	0.5648	10	0.87932	D	0	.	8.6228	0.33870	0.173:0.6597:0.1672:0.0	.	432	E9PBK0	.	C	432	ENSP00000430945:R432C;ENSP00000313046:R432C	ENSP00000313046:R432C	R	+	1	0	BAI1	143555819	0.998000	0.40836	1.000000	0.80357	0.982000	0.71751	3.752000	0.55172	0.826000	0.34661	0.491000	0.48974	CGC		0.652	BAI1-001	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000379963.3	NM_001702		6	119	0	0	0	0.248553	0	6	119					T	143558817	C	T	143558817	3	4	75	1	0	0	0	0	1	0	0	0	1298	884	31	2	1312	2	BAI1	8	143558817	Missense_Mutation	SNP	C	TCGA-EJ-5531-01A-01D-1576-08	33119578	143558817	2805205	19	3938											
ABL1	25	broad.mit.edu	37	chr9	133759490	133759492	+	In_Frame_Del	DEL	AAG	AAG	-																															acttgttcagcgccttgatcAagaagaagaagaagacagcc																								rs201725154		TCGA-EJ-5531-01A-01D-1576-08	TCGA-EJ-5531-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729e845e-9b3f-47df-9400-07a81f3a5c12	85790f6e-85d7-4f6a-8784-4900d2364873	g.chr9:133759490_133759492delAAG	ENST00000318560.5	+	11	2194_2196	c.1813_1815delAAG	c.(1813-1815)aagdel	p.K609del		NM_005157.4	NP_005148.2	P00519	ABL1_HUMAN	ABL proto-oncogene 1, non-receptor tyrosine kinase	609	Poly-Lys.				actin cytoskeleton organization (GO:0030036)|autophagy (GO:0006914)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cellular protein modification process (GO:0006464)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to dopamine (GO:1903351)|cellular response to oxidative stress (GO:0034599)|DNA damage induced protein phosphorylation (GO:0006975)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|mismatch repair (GO:0006298)|mitochondrial depolarization (GO:0051882)|mitotic nuclear division (GO:0007067)|muscle cell differentiation (GO:0042692)|negative regulation of phospholipase C activity (GO:1900275)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|negative regulation of ubiquitin-protein transferase activity (GO:0051444)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of oxidoreductase activity (GO:0051353)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of autophagy (GO:0010506)|regulation of cell adhesion (GO:0030155)|regulation of cell motility (GO:2000145)|regulation of endocytosis (GO:0030100)|regulation of response to DNA damage stimulus (GO:2001020)|regulation of transcription, DNA-templated (GO:0006355)|response to oxidative stress (GO:0006979)|signal transduction in response to DNA damage (GO:0042770)	actin cytoskeleton (GO:0015629)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	actin monomer binding (GO:0003785)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|mitogen-activated protein kinase binding (GO:0051019)|nicotinate-nucleotide adenylyltransferase activity (GO:0004515)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|proline-rich region binding (GO:0070064)|protein C-terminus binding (GO:0008022)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)|SH3 domain binding (GO:0017124)|syntaxin binding (GO:0019905)			breast(3)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1149)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	1195		all_hematologic(13;0.0361)|Acute lymphoblastic leukemia(5;0.0543)|Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.4e-05)	Adenosine triphosphate(DB00171)|Bosutinib(DB06616)|Dasatinib(DB01254)|Imatinib(DB00619)|Nilotinib(DB04868)|Ponatinib(DB08901)|Regorafenib(DB08896)	CGCCTTGATCAAGAAGAAGAAGA	0.616			"T, Mis"	"BCR, ETV6, NUP214"	"CML, ALL, T-ALL"																																	ENST00000318560.5				Dom	yes		9	9q34.1	25	"T, Mis"	v-abl Abelson murine leukemia viral oncogene homolog 1			L	"BCR, ETV6, NUP214"		"CML, ALL, T-ALL"		0				breast(3)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1149)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	1195						c.(1813-1815)del		c-abl oncogene 1, non-receptor tyrosine kinase	Adenosine triphosphate(DB00171)|Dasatinib(DB01254)|Imatinib(DB00619)																																			SO:0001651	inframe_deletion	25				actin cytoskeleton organization|axon guidance|blood coagulation|cell adhesion|DNA damage induced protein phosphorylation|DNA damage response, signal transduction resulting in induction of apoptosis|mismatch repair|muscle cell differentiation|negative regulation of protein serine/threonine kinase activity|peptidyl-tyrosine phosphorylation|positive regulation of muscle cell differentiation|positive regulation of oxidoreductase activity|regulation of transcription involved in S phase of mitotic cell cycle	cytoskeleton|cytosol|nuclear membrane|nucleolus|perinuclear region of cytoplasm	ATP binding|DNA binding|magnesium ion binding|manganese ion binding|mitogen-activated protein kinase binding|non-membrane spanning protein tyrosine kinase activity|proline-rich region binding|protein C-terminus binding|SH3 domain binding	g.chr9:133759490_133759492delAAG	M14752	CCDS35165.1, CCDS35166.1	9q34.1	2014-09-17	2014-06-26		ENSG00000097007	ENSG00000097007		"SH2 domain containing"	76	protein-coding gene	gene with protein product		189980	"v-abl Abelson murine leukemia viral oncogene homolog 1", "c-abl oncogene 1, receptor tyrosine kinase", "c-abl oncogene 1, non-receptor tyrosine kinase"	ABL		1857987, 12626632	Standard	NM_007313		Approved	JTK7, c-ABL, p150	uc004bzv.3	P00519	OTTHUMG00000020813	ENST00000318560.5:c.1813_1815delAAG	9.37:g.133759499_133759501delAAG	ENSP00000323315:p.Lys609del						p.K609del	NM_005157.4	NP_005148.2	P00519	ABL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.4e-05)	11	2194_2196	+		all_hematologic(13;0.0361)|Acute lymphoblastic leukemia(5;0.0543)|Myeloproliferative disorder(178;0.204)	609			Poly-Lys.		A3KFJ3|Q13869|Q13870|Q16133|Q17R61|Q45F09	In_Frame_Del	DEL	ENST00000318560.5	37	c.1813_1815delAAG	CCDS35166.1																																																																																				0.616	ABL1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054684.1	NM_007313		14	320						14	320	---	---	---	---	-	133759492	AAG	-	133759490	7	5	75	1	0	1	0	1	0	0	0	0	92	131	5	0	1995	0	ABL1	9	133759490	In_Frame_Del	DEL	AAG	TCGA-EJ-5531-01A-01D-1576-08		133759490	7453941	20	3939											
SARDH	1757	broad.mit.edu	37	chr9	136597652	136597652	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgtctcctcctccagctcccGgctcaccacccgccgagtgt	4	8	8	21	4	2	0	1	0	1	0	6	1	5	0	7	1	1	2	7	1	0	0	rs558572942		TCGA-EJ-5531-01A-01D-1576-08	TCGA-EJ-5531-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729e845e-9b3f-47df-9400-07a81f3a5c12	85790f6e-85d7-4f6a-8784-4900d2364873	g.chr9:136597652G>A	ENST00000371872.4	-	3	660	c.403C>T	c.(403-405)Cgg>Tgg	p.R135W	SARDH_ENST00000298628.5_Missense_Mutation_p.R135W|SARDH_ENST00000422262.2_5'UTR|SARDH_ENST00000371867.1_Missense_Mutation_p.R46W|SARDH_ENST00000439388.1_Missense_Mutation_p.R135W	NM_007101.3	NP_009032.2	Q9UL12	SARDH_HUMAN	sarcosine dehydrogenase	135					glycine catabolic process (GO:0006546)	mitochondrion (GO:0005739)	aminomethyltransferase activity (GO:0004047)|sarcosine dehydrogenase activity (GO:0008480)	p.R135W(1)		central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(13)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	44				OV - Ovarian serous cystadenocarcinoma(145;3.21e-07)|Epithelial(140;2.37e-06)|all cancers(34;2.75e-05)		TCCAGCTCCCGGCTCACCACC	0.677													G|||	1	0.000199681	0	0	5008	,	,		11088	0		0	False		,,,				2504	0.001					ENST00000371872.4																			1	Substitution - Missense(1)	p.R135W(1)	prostate(1)	central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(13)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	44						c.(403-405)Cgg>Tgg		sarcosine dehydrogenase							105	102	103					9																	136597652		2203	4300	6503	SO:0001583	missense	1757				glycine catabolic process	mitochondrial matrix	aminomethyltransferase activity|sarcosine dehydrogenase activity	g.chr9:136597652G>A		CCDS6978.1	9q33-q34	2008-02-05			ENSG00000123453	ENSG00000123453	1.5.99.2		10536	protein-coding gene	gene with protein product		604455		DMGDHL1		10444331	Standard	NM_007101		Approved	SDH	uc004cep.4	Q9UL12	OTTHUMG00000020879	ENST00000371872.4:c.403C>T	9.37:g.136597652G>A	ENSP00000360938:p.Arg135Trp					SARDH_ENST00000422262.2_5'UTR|SARDH_ENST00000439388.1_Missense_Mutation_p.R135W|SARDH_ENST00000298628.5_Missense_Mutation_p.R135W|SARDH_ENST00000371867.1_Missense_Mutation_p.R46W	p.R135W	NM_007101.3	NP_009032.2	Q9UL12	SARDH_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;3.21e-07)|Epithelial(140;2.37e-06)|all cancers(34;2.75e-05)	3	660	-			135					B2RMR5|B4DPI2|B7ZLT6|Q5SYV0|Q9Y280|Q9Y2Y3	Missense_Mutation	SNP	ENST00000371872.4	37	c.403C>T	CCDS6978.1	.	.	.	.	.	.	.	.	.	.	G	16.46	3.128793	0.56721	.	.	ENSG00000123453	ENST00000371872;ENST00000439388;ENST00000427237;ENST00000539227;ENST00000535281;ENST00000371867;ENST00000393050;ENST00000298628	D;D;D;D	0.83163	-1.69;-1.69;-1.69;-1.69	4.32	2.43	0.29744	FAD dependent oxidoreductase (1);	1.210620	0.05642	N	0.583712	D	0.83348	0.5235	L	0.34521	1.04	0.33122	D	0.541918	D	0.64830	0.994	P	0.53185	0.72	T	0.75354	-0.3347	10	0.87932	D	0	-9.708	10.6518	0.45653	0.0:0.144:0.7063:0.1497	.	135	Q9UL12	SARDH_HUMAN	W	135;135;135;135;135;46;113;135	ENSP00000360938:R135W;ENSP00000403084:R135W;ENSP00000360933:R46W;ENSP00000298628:R135W	ENSP00000298628:R135W	R	-	1	2	SARDH	135587473	0.993000	0.37304	0.317000	0.25265	0.882000	0.50991	2.219000	0.42899	0.270000	0.21984	-0.371000	0.07208	CGG		0.677	SARDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054931.1			39	222	0	0	0	0.870114	0	39	222					A	136597652	G	A	136597652	3	1	75	1	0	0	0	0	1	0	0	0	13841	1115	39	2	2429	2	SARDH	9	136597652	Missense_Mutation	SNP	G	TCGA-EJ-5531-01A-01D-1576-08	2838162	136597652	4615779	21	3940											
PNPLA7	375775	broad.mit.edu	37	chr9	140437911	140437912	+	Frame_Shift_Ins	INS	-	-	C																															tttcagcatgtacagaacttINSccgatggcaggtgagaattc																										TCGA-EJ-5531-01A-01D-1576-08	TCGA-EJ-5531-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729e845e-9b3f-47df-9400-07a81f3a5c12	85790f6e-85d7-4f6a-8784-4900d2364873	g.chr9:140437911_140437912insC	ENST00000277531.4	-	5	589_590	c.403_404insG	c.(403-405)gaafs	p.E135fs	AL365502.1_ENST00000580317.1_RNA|PNPLA7_ENST00000406427.1_Frame_Shift_Ins_p.E160fs	NM_152286.3	NP_689499.3	Q6ZV29	PLPL7_HUMAN	patatin-like phospholipase domain containing 7	135					lipid metabolic process (GO:0006629)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	lysophospholipase activity (GO:0004622)			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_cancers(76;0.126)			OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839)		GTACAGAACTTCCGATGGCAGG	0.639																																						ENST00000406427.1																			0				breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						c.(478-480)agtfs		patatin-like phospholipase domain containing 7																																				SO:0001589	frameshift_variant	375775				lipid metabolic process	endoplasmic reticulum|integral to membrane|lysosomal membrane|microsome|mitochondrial membrane|nuclear membrane	hydrolase activity	g.chr9:140437911_140437912insC	AK126267	CCDS7045.1, CCDS48070.1	9q34.3	2009-01-12	2006-06-12	2006-06-12	ENSG00000130653	ENSG00000130653		"Patatin-like phospholipase domain containing"	24768	protein-coding gene	gene with protein product		612122	"chromosome 9 open reading frame 111"	C9orf111		16799181, 12640454, 19029121	Standard	XM_005266082		Approved	FLJ43070, FLJ31318, FLJ44279, RP11-48C7.2, NTEL1, NTE-R1	uc010ncj.1	Q6ZV29	OTTHUMG00000020990	ENST00000277531.4:c.404dupG	9.37:g.140437913_140437913dupC	ENSP00000277531:p.Glu135fs					PNPLA7_ENST00000277531.4_Frame_Shift_Ins_p.S135fs	p.S160fs	NM_001098537.1	NP_001092007.1	Q6ZV29	PLPL7_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839)	6	814_815	-	all_cancers(76;0.126)		135					B5MDD3|Q5T364|Q658X0|Q658Y3|Q6ZTS1|Q86YU8|Q8TAY5|Q96N75|Q9H7N5	Frame_Shift_Ins	INS	ENST00000277531.4	37	c.478_479insG	CCDS7045.1																																																																																				0.639	PNPLA7-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254787.1	NM_152286		7	197						7	197	---	---	---	---	C	140437912	-	C	140437911	7	5	75	1	0	1	1	0	0	0	0	0	12170	1783	62	0	3669	0	PNPLA7	9	140437911	Frame_Shift_Ins	INS	-	TCGA-EJ-5531-01A-01D-1576-08	3840259	140437911	775520	22	3941											
FAM171A1	221061	broad.mit.edu	37	chr10	15256160	15256160	+	Frame_Shift_Del	DEL	C	C	-																															cattgcccgaggactcgtagCcttctctttccatagatttt																										TCGA-EJ-5531-01A-01D-1576-08	TCGA-EJ-5531-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729e845e-9b3f-47df-9400-07a81f3a5c12	85790f6e-85d7-4f6a-8784-4900d2364873	g.chr10:15256160delC	ENST00000378116.4	-	8	1433	c.1427delG	c.(1426-1428)ggcfs	p.G476fs	FAM171A1_ENST00000477161.1_5'Flank	NM_001010924.1	NP_001010924.1	Q5VUB5	F1711_HUMAN	family with sequence similarity 171, member A1	476						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(6)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	52						GGACTCGTAGCCTTCTCTTTC	0.483																																						ENST00000378116.4																			0				breast(6)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	52						c.(1426-1428)gcfs		family with sequence similarity 171, member A1							99	87	91					10																	15256160		2203	4300	6503	SO:0001589	frameshift_variant	221061					integral to membrane		g.chr10:15256160delC	AK022946	CCDS31154.1	10p13	2008-06-16	2008-06-16	2008-06-16	ENSG00000148468	ENSG00000148468			23522	protein-coding gene	gene with protein product			"chromosome 10 open reading frame 38"	C10orf38			Standard	NM_001010924		Approved	FLJ12884	uc001iob.3	Q5VUB5	OTTHUMG00000017732	ENST00000378116.4:c.1427delG	10.37:g.15256160delC	ENSP00000367356:p.Gly476fs						p.G476fs	NM_001010924.1	NP_001010924.1	Q5VUB5	F1711_HUMAN			8	1433	-			476					D3DRT9|Q32M49|Q8N4I0	Frame_Shift_Del	DEL	ENST00000378116.4	37	c.1427delG	CCDS31154.1																																																																																				0.483	FAM171A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046984.1	XM_167709		21	132						21	132	---	---	---	---	-	15256160	C	-	15256160	7	5	75	1	0	1	0	1	0	0	0	0	5490	739	26	0	1249	0	FAM171A1	10	15256160	Frame_Shift_Del	DEL	C	TCGA-EJ-5531-01A-01D-1576-08		15256160	120278587	23	3942											
ANK3	288	broad.mit.edu	37	chr10	61832387	61832388	+	Frame_Shift_Ins	INS	-	-	T																															gggtagcttgctctcctgtaINStttttttaactgggattctg																										TCGA-EJ-5531-01A-01D-1576-08	TCGA-EJ-5531-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729e845e-9b3f-47df-9400-07a81f3a5c12	85790f6e-85d7-4f6a-8784-4900d2364873	g.chr10:61832387_61832388insT	ENST00000280772.2	-	37	8442_8443	c.8251_8252insA	c.(8251-8253)atafs	p.I2751fs	ANK3_ENST00000355288.2_Intron|ANK3_ENST00000373827.2_Intron|ANK3_ENST00000503366.1_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	2751					axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization (GO:0045184)|Golgi to plasma membrane protein transport (GO:0043001)|maintenance of protein location in plasma membrane (GO:0072660)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|neuromuscular junction development (GO:0007528)|neuronal action potential (GO:0019228)|plasma membrane organization (GO:0007009)|positive regulation of cell communication by electrical coupling (GO:0010650)|positive regulation of gene expression (GO:0010628)|positive regulation of homotypic cell-cell adhesion (GO:0034112)|positive regulation of membrane depolarization during cardiac muscle cell action potential (GO:1900827)|positive regulation of membrane potential (GO:0045838)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein localization to plasma membrane (GO:0072659)|protein targeting to plasma membrane (GO:0072661)|regulation of potassium ion transport (GO:0043266)|signal transduction (GO:0007165)	axon initial segment (GO:0043194)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|costamere (GO:0043034)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|lysosome (GO:0005764)|neuromuscular junction (GO:0031594)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|T-tubule (GO:0030315)|Z disc (GO:0030018)	cadherin binding (GO:0045296)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						GCTCTCCTGTATTTTTTTAACT	0.401																																						ENST00000280772.1																			0				NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						c.(8251-8253)acafs		ankyrin 3, node of Ranvier (ankyrin G)																																				SO:0001589	frameshift_variant	288				establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding	g.chr10:61832387_61832388insT	U13616	CCDS7258.1, CCDS7259.1, CCDS55711.1, CCDS55712.1	10q21	2013-01-10			ENSG00000151150	ENSG00000151150		"Ankyrin repeat domain containing"	494	protein-coding gene	gene with protein product	"ankyrin-3, node of Ranvier", "ankyrin-G"	600465				7665168	Standard	NM_020987		Approved		uc001jky.3	Q12955	OTTHUMG00000018288	ENST00000280772.2:c.8252dupA	10.37:g.61832394_61832394dupT	ENSP00000280772:p.Ile2751fs					ANK3_ENST00000373827.2_Intron|ANK3_ENST00000503366.1_Intron|ANK3_ENST00000355288.2_Intron	p.T2751fs	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN			37	8442_8443	-			2751					B1AQT2|B4DIL1|E9PE32|Q13484|Q5CZH9|Q5VXD5|Q7Z3G4|Q9H0P5	Frame_Shift_Ins	INS	ENST00000280772.2	37	c.8251_8252insA	CCDS7258.1																																																																																				0.401	ANK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048201.4	NM_020987		18	156						18	156	---	---	---	---	T	61832388	-	T	61832387	7	5	75	1	0	1	1	0	0	0	0	0	622	449	16	0	5222	0	ANK3	10	61832387	Frame_Shift_Ins	INS	-	TCGA-EJ-5531-01A-01D-1576-08	46576227	61832387	73702360	24	3943											
MUC2	4583	broad.mit.edu	37	chr11	1081737	1081737	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acgggggccggctttgccaaCacctggaaggcacagtcaag	10	5	14	12	2	1	0	1	0	0	0	1	1	1	1	3	5	2	2	3	5	3	1			TCGA-EJ-5531-01A-01D-1576-08	TCGA-EJ-5531-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729e845e-9b3f-47df-9400-07a81f3a5c12	85790f6e-85d7-4f6a-8784-4900d2364873	g.chr11:1081737C>T	ENST00000441003.2	+	13	1692	c.1665C>T	c.(1663-1665)aaC>aaT	p.N555N	MUC2_ENST00000359061.5_Silent_p.N555N	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	555	VWFD 2. {ECO:0000255|PROSITE- ProRule:PRU00580}.				cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi lumen (GO:0005796)|inner mucus layer (GO:0070702)|outer mucus layer (GO:0070703)		p.N555N(2)		NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	GCTTTGCCAACACCTGGAAGG	0.652																																						ENST00000441003.2																			2	Substitution - coding silent(2)	p.N555N(2)	prostate(2)	NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102						c.(1663-1665)aaC>aaT		mucin 2, oligomeric mucus/gel-forming	Pranlukast(DB01411)						32	37	35					11																	1081737		2028	4176	6204	SO:0001819	synonymous_variant	4583					inner mucus layer|outer mucus layer	protein binding	g.chr11:1081737C>T	L21998		11p15.5	2011-01-28	2006-03-14		ENSG00000198788	ENSG00000198788		"Mucins"	7512	protein-coding gene	gene with protein product		158370	"mucin 2, intestinal/tracheal"			15081123	Standard	NM_002457		Approved		uc001lsx.1	Q02817	OTTHUMG00000156800	ENST00000441003.2:c.1665C>T	11.37:g.1081737C>T						MUC2_ENST00000359061.5_Silent_p.N555N	p.N555N	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	13	1692	+		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)	555			VWFD 2.		Q14878	Silent	SNP	ENST00000441003.2	37	c.1665C>T																																																																																					0.652	MUC2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000345894.2	NM_002457		13	57	0	0	0	0.435327	0	13	57					T	1081737	C	T	1081737	2	4	75	1	0	0	0	0	0	0	0	1	9975	477	17	3		3	MUC2	11	1081737	Silent	SNP	C	TCGA-EJ-5531-01A-01D-1576-08		1081737	133924779	25	3944											
SLC1A2	6506	broad.mit.edu	37	chr11	35313864	35313864	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgcccagggcagtgatccaaGcttggaaaatgccagcaaaa	14	6	11	10	0	0	1	0	1	0	0	1	2	1	2	3	2	4	3	3	2	5	1			TCGA-EJ-5531-01A-01D-1576-08	TCGA-EJ-5531-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729e845e-9b3f-47df-9400-07a81f3a5c12	85790f6e-85d7-4f6a-8784-4900d2364873	g.chr11:35313864G>A	ENST00000278379.3	-	7	1343	c.1061C>T	c.(1060-1062)gCt>gTt	p.A354V	SLC1A2_ENST00000395753.1_Missense_Mutation_p.A345V|SLC1A2_ENST00000395750.1_Missense_Mutation_p.A345V|SLC1A2_ENST00000606205.1_Missense_Mutation_p.A354V	NM_004171.3	NP_004162.2	P43004	EAA2_HUMAN	solute carrier family 1 (glial high affinity glutamate transporter), member 2	354					adult behavior (GO:0030534)|cellular response to extracellular stimulus (GO:0031668)|D-aspartate import (GO:0070779)|ion transport (GO:0006811)|L-glutamate import (GO:0051938)|multicellular organism growth (GO:0035264)|multicellular organismal aging (GO:0010259)|positive regulation of glucose import (GO:0046326)|response to amino acid (GO:0043200)|response to drug (GO:0042493)|response to wounding (GO:0009611)|synaptic transmission (GO:0007268)|telencephalon development (GO:0021537)|transmembrane transport (GO:0055085)|visual behavior (GO:0007632)	axolemma (GO:0030673)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	glutamate:sodium symporter activity (GO:0015501)|L-glutamate transmembrane transporter activity (GO:0005313)|sodium:dicarboxylate symporter activity (GO:0017153)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(1)|urinary_tract(1)	24	all_lung(20;0.211)|all_epithelial(35;0.234)	all_hematologic(20;0.109)	STAD - Stomach adenocarcinoma(6;0.00731)			AGTGATCCAAGCTTGGAAAAT	0.463																																					NSCLC(100;1273 1575 12993 16869 47409)|Ovarian(164;45 1946 8965 30452 48454)	ENST00000278379.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(1)|urinary_tract(1)	24						c.(1060-1062)gCt>gTt		solute carrier family 1 (glial high affinity glutamate transporter), member 2	L-Glutamic Acid(DB00142)						188	196	194					11																	35313864		2202	4298	6500	SO:0001583	missense	6506				D-aspartate import|L-glutamate import|synaptic transmission	integral to membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity	g.chr11:35313864G>A	AB209444	CCDS31459.1, CCDS55756.1	11p13-p12	2013-05-22			ENSG00000110436	ENSG00000110436		"Solute carriers"	10940	protein-coding gene	gene with protein product		600300				1448170	Standard	NM_004171		Approved	GLT-1, EAAT2	uc001mwd.3	P43004	OTTHUMG00000044391	ENST00000278379.3:c.1061C>T	11.37:g.35313864G>A	ENSP00000278379:p.Ala354Val					SLC1A2_ENST00000395750.1_Missense_Mutation_p.A345V|SLC1A2_ENST00000395753.1_Missense_Mutation_p.A345V|SLC1A2_ENST00000606205.1_Missense_Mutation_p.A354V	p.A354V	NM_004171.3	NP_004162.2	P43004	EAA2_HUMAN	STAD - Stomach adenocarcinoma(6;0.00731)		7	1343	-	all_lung(20;0.211)|all_epithelial(35;0.234)	all_hematologic(20;0.109)	354					B4DQE9|Q14417|Q541G6|U3KQQ4	Missense_Mutation	SNP	ENST00000278379.3	37	c.1061C>T	CCDS31459.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	30|30	5.055831|5.055831	0.93793|0.93793	.|.	.|.	ENSG00000110436|ENSG00000110436	ENST00000278379;ENST00000395750;ENST00000395753|ENST00000531628	T;T;T|.	0.61859|.	0.07;0.07;0.07|.	5.41|5.41	5.41|5.41	0.78517|0.78517	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.73976|0.73976	0.3656|0.3656	M|M	0.64630|0.64630	1.985|1.985	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	0.999;1.0|.	D;D|.	0.91635|.	0.951;0.999|.	T|T	0.72060|0.72060	-0.4404|-0.4404	10|5	0.52906|.	T|.	0.07|.	-12.1046|-12.1046	19.1903|19.1903	0.93663|0.93663	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	354;354|.	B4DQE9;P43004|.	.;EAA2_HUMAN|.	V|F	354;345;345|72	ENSP00000278379:A354V;ENSP00000379099:A345V;ENSP00000379102:A345V|.	ENSP00000278379:A354V|.	A|L	-|-	2|1	0|0	SLC1A2|SLC1A2	35270440|35270440	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.923000|0.923000	0.55619|0.55619	9.869000|9.869000	0.99810|0.99810	2.526000|2.526000	0.85167|0.85167	0.655000|0.655000	0.94253|0.94253	GCT|CTT		0.463	SLC1A2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000258181.1	NM_004171		19	419	0	0	0	0.608945	0	19	419					A	35313864	G	A	35313864	3	1	75	1	0	0	0	0	1	0	0	0	14432	971	34	3	683	3	SLC1A2	11	35313864	Missense_Mutation	SNP	G	TCGA-EJ-5531-01A-01D-1576-08	34232127	35313864	99692652	26	3945											
OR4S2	219431	broad.mit.edu	37	chr11	55418689	55418689	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgcaactgtttggagtacatTtctttggttgcactgagatc	8	16	10	7	0	1	1	0	1	1	1	2	3	1	2	0	2	4	5	0	2	2	5			TCGA-EJ-5531-01A-01D-1576-08	TCGA-EJ-5531-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729e845e-9b3f-47df-9400-07a81f3a5c12	85790f6e-85d7-4f6a-8784-4900d2364873	g.chr11:55418689T>A	ENST00000312422.2	+	1	310	c.310T>A	c.(310-312)Ttc>Atc	p.F104I		NM_001004059.2	NP_001004059.2	Q8NH73	OR4S2_HUMAN	olfactory receptor, family 4, subfamily S, member 2	104						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(2)|large_intestine(4)|lung(28)|ovary(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_epithelial(135;0.0748)				TGGAGTACATTTCTTTGGTTG	0.428																																						ENST00000312422.2																			0				endometrium(1)|kidney(2)|large_intestine(4)|lung(28)|ovary(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						c.(310-312)Ttc>Atc		olfactory receptor, family 4, subfamily S, member 2							220	184	197					11																	55418689		2185	4040	6225	SO:0001583	missense	219431				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55418689T>A	BK004390	CCDS31505.1	11q11	2012-08-09	2002-11-13	2002-11-15	ENSG00000174982	ENSG00000174982		"GPCR / Class A : Olfactory receptors"	15183	protein-coding gene	gene with protein product			"olfactory receptor, family 4, subfamily S, member 2 pseudogene"	OR4S2P			Standard	NM_001004059		Approved	OST725	uc001nhs.1	Q8NH73	OTTHUMG00000166799	ENST00000312422.2:c.310T>A	11.37:g.55418689T>A	ENSP00000310337:p.Phe104Ile						p.F104I	NM_001004059.2	NP_001004059.2	Q8NH73	OR4S2_HUMAN			1	310	+		all_epithelial(135;0.0748)	104					Q6IF72	Missense_Mutation	SNP	ENST00000312422.2	37	c.310T>A	CCDS31505.1	.	.	.	.	.	.	.	.	.	.	T	15.48	2.845418	0.51164	.	.	ENSG00000174982	ENST00000312422	T	0.01335	5.0	5.36	5.36	0.76844	GPCR, rhodopsin-like superfamily (1);	0.000000	0.56097	D	0.000029	T	0.02047	0.0064	L	0.47716	1.5	0.34142	D	0.666466	B	0.29766	0.256	B	0.21546	0.035	T	0.41124	-0.9526	10	0.52906	T	0.07	.	14.1779	0.65555	0.0:0.0:0.0:1.0	.	104	Q8NH73	OR4S2_HUMAN	I	104	ENSP00000310337:F104I	ENSP00000310337:F104I	F	+	1	0	OR4S2	55175265	0.000000	0.05858	0.999000	0.59377	0.995000	0.86356	-0.011000	0.12721	2.031000	0.59945	0.448000	0.29417	TTC		0.428	OR4S2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391503.1	NM_001004059		19	288	0	0	0	0.608945	0	19	288					A	55418689	T	A	55418689	3	1	75	1	0	0	0	0	1	0	0	0	11083	1841	64	5	312	5	OR4S2	11	55418689	Missense_Mutation	SNP	T	TCGA-EJ-5531-01A-01D-1576-08	20104825	55418689	79587827	27	3946											
SLC22A10	387775	broad.mit.edu	37	chr11	63059054	63059054	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agtcactgaaatcagtggttCaattcctacttctgactgga	11	13	8	9	0	4	2	3	2	1	0	5	3	5	3	1	2	1	1	1	2	3	4			TCGA-EJ-5531-01A-01D-1576-08	TCGA-EJ-5531-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729e845e-9b3f-47df-9400-07a81f3a5c12	85790f6e-85d7-4f6a-8784-4900d2364873	g.chr11:63059054C>G	ENST00000332793.6	+	2	447	c.445C>G	c.(445-447)Caa>Gaa	p.Q149E	SLC22A10_ENST00000525620.1_Intron|SLC22A10_ENST00000526800.1_Missense_Mutation_p.Q97E|SLC22A10_ENST00000535888.1_Intron|SLC22A10_ENST00000544661.1_5'UTR	NM_001039752.3	NP_001034841.3	Q63ZE4	S22AA_HUMAN	solute carrier family 22, member 10	149						integral component of membrane (GO:0016021)	transmembrane transporter activity (GO:0022857)	p.Q149E(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28					Conjugated Estrogens(DB00286)|Probenecid(DB01032)|Salicylic acid(DB00936)	ATCAGTGGTTCAATTCCTACT	0.468																																						ENST00000332793.6																			1	Substitution - Missense(1)	p.Q149E(1)	prostate(1)	breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						c.(445-447)Caa>Gaa		solute carrier family 22, member 10							163	160	161					11																	63059054		2095	4253	6348	SO:0001583	missense	387775					integral to membrane	transmembrane transporter activity	g.chr11:63059054C>G	AP003420	CCDS41661.1	11q12.3	2013-05-22	2008-01-11		ENSG00000184999	ENSG00000184999		"Solute carriers"	18057	protein-coding gene	gene with protein product		607580	"solute carrier family 22 (organic anion/cation transporter), member 10"			11327718	Standard	NM_001039752		Approved	OAT5, hOAT5	uc009yor.3	Q63ZE4	OTTHUMG00000165197	ENST00000332793.6:c.445C>G	11.37:g.63059054C>G	ENSP00000327569:p.Gln149Glu					SLC22A10_ENST00000535888.1_Intron|SLC22A10_ENST00000526800.1_Missense_Mutation_p.Q97E|SLC22A10_ENST00000544661.1_5'UTR|SLC22A10_ENST00000525620.1_Intron	p.Q149E	NM_001039752.3	NP_001034841.3	Q63ZE4	S22AA_HUMAN			2	447	+			149					Q68CJ0	Missense_Mutation	SNP	ENST00000332793.6	37	c.445C>G	CCDS41661.1	.	.	.	.	.	.	.	.	.	.	C	14.21	2.467942	0.43839	.	.	ENSG00000184999	ENST00000332793;ENST00000526800	T;T	0.78364	-0.79;-1.17	3.17	-0.408	0.12381	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	U	0.000000	D	0.83335	0.5232	M	0.90252	3.1	0.09310	N	1	B;P	0.42871	0.122;0.792	B;P	0.50537	0.08;0.643	T	0.75975	-0.3128	10	0.44086	T	0.13	.	9.6547	0.39919	0.5573:0.4427:0.0:0.0	.	97;149	E9PJB1;Q63ZE4	.;S22AA_HUMAN	E	149;97	ENSP00000327569:Q149E;ENSP00000433908:Q97E	ENSP00000327569:Q149E	Q	+	1	0	SLC22A10	62815630	0.001000	0.12720	0.001000	0.08648	0.042000	0.13812	0.437000	0.21543	-0.167000	0.10871	0.579000	0.79373	CAA		0.468	SLC22A10-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382622.3	NM_001039752		16	110	0	0	0	0.557998	0	16	110					G	63059054	C	G	63059054	3	3	75	1	0	0	0	0	1	0	0	0	14441	827	29	5	451	5	SLC22A10	11	63059054	Missense_Mutation	SNP	C	TCGA-EJ-5531-01A-01D-1576-08	7640365	63059054	71947462	28	3947											
ARHGAP32	9743	broad.mit.edu	37	chr11	128868319	128868319	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttgttggacgagacttcaTgaatgttcgtaagaacgtaa	12	14	10	5	3	1	3	1	1	0	2	2	5	1	4	0	1	1	4	0	1	4	7			TCGA-EJ-5531-01A-01D-1576-08	TCGA-EJ-5531-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729e845e-9b3f-47df-9400-07a81f3a5c12	85790f6e-85d7-4f6a-8784-4900d2364873	g.chr11:128868319T>C	ENST00000310343.9	-	11	1047	c.1048A>G	c.(1048-1050)Atg>Gtg	p.M350V	ARHGAP32_ENST00000392657.3_Start_Codon_SNP_p.M1V|ARHGAP32_ENST00000527272.1_Start_Codon_SNP_p.M1V|ARHGAP32_ENST00000524655.1_Missense_Mutation_p.M276V	NM_001142685.1	NP_001136157.1	A7KAX9	RHG32_HUMAN	Rho GTPase activating protein 32	350					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cell projection (GO:0042995)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|postsynaptic membrane (GO:0045211)	GTPase activator activity (GO:0005096)|phosphatidylinositol binding (GO:0035091)	p.M1V(2)|p.M350V(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(28)|ovary(3)|prostate(6)|urinary_tract(3)	60						CGAGACTTCATGAATGTTCGT	0.403																																						ENST00000310343.9																			3	Substitution - Missense(3)	p.M1V(2)|p.M350V(1)	prostate(3)	breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(28)|ovary(3)|prostate(6)|urinary_tract(3)	60						c.(1048-1050)Atg>Gtg		Rho GTPase activating protein 32							124	112	116					11																	128868319		2201	4297	6498	SO:0001583	missense	9743				cell communication|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell cortex|cell junction|cytosol|dendritic spine|endoplasmic reticulum membrane|endosome membrane|Golgi membrane|postsynaptic density|postsynaptic membrane	GTPase activator activity|phosphatidylinositol binding	g.chr11:128868319T>C	AB018255	CCDS31718.1, CCDS44769.1	11q24.3	2011-06-29			ENSG00000134909	ENSG00000134909		"Rho GTPase activating proteins"	17399	protein-coding gene	gene with protein product		608541				12446789, 12819203, 17663722	Standard	NM_014715		Approved	GRIT, KIAA0712, MGC1892, RICS, GC-GAP	uc009zcp.3	A7KAX9	OTTHUMG00000165774	ENST00000310343.9:c.1048A>G	11.37:g.128868319T>C	ENSP00000310561:p.Met350Val					ARHGAP32_ENST00000527272.1_Start_Codon_SNP_p.M1V|ARHGAP32_ENST00000392657.3_Start_Codon_SNP_p.M1V|ARHGAP32_ENST00000524655.1_Missense_Mutation_p.M276V	p.M350V	NM_001142685.1	NP_001136157.1	A7KAX9	RHG32_HUMAN			11	1047	-			350					I7H0B0|O94820|Q86YL6|Q8IUG4|Q9BWG3	Missense_Mutation	SNP	ENST00000310343.9	37	c.1048A>G	CCDS44769.1	.	.	.	.	.	.	.	.	.	.	T	18.44	3.624657	0.66901	.	.	ENSG00000134909	ENST00000310343;ENST00000392657;ENST00000524655;ENST00000457677;ENST00000527272;ENST00000356092	T;T;T;T	0.15139	3.02;2.45;3.01;2.45	6.11	6.11	0.99139	.	0.112591	0.85682	D	0.000000	T	0.27731	0.0682	M	0.72894	2.215	0.80722	D	1	B;B;B	0.25521	0.128;0.014;0.002	B;B;B	0.32465	0.146;0.009;0.003	T	0.02813	-1.1107	10	0.72032	D	0.01	.	16.3756	0.83387	0.0:0.0:0.0:1.0	.	284;350;168	Q86T64;A7KAX9;Q86UT2	.;RHG32_HUMAN;.	V	350;1;276;284;1;60	ENSP00000310561:M350V;ENSP00000376425:M1V;ENSP00000432468:M276V;ENSP00000432862:M1V	ENSP00000310561:M350V	M	-	1	0	ARHGAP32	128373529	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.481000	0.81124	2.343000	0.79666	0.533000	0.62120	ATG		0.403	ARHGAP32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386151.3	NM_014715		19	128	0	0	0	0.624587	0	19	128					C	128868319	T	C	128868319	3	2	75	1	0	0	0	0	1	0	0	0	881	1464	51	4	5263	4	ARHGAP32	11	128868319	Missense_Mutation	SNP	T	TCGA-EJ-5531-01A-01D-1576-08	65809265	128868319	6138197	29	3948											
NTM	50863	broad.mit.edu	37	chr11	132177693	132177693	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acgtggccgcgcccgtggtaCggagagtaaaggtcaccgtg	8	6	16	11	6	1	1	1	0	0	1	1	2	1	1	3	4	1	2	3	4	3	2			TCGA-EJ-5531-01A-01D-1576-08	TCGA-EJ-5531-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729e845e-9b3f-47df-9400-07a81f3a5c12	85790f6e-85d7-4f6a-8784-4900d2364873	g.chr11:132177693C>T	ENST00000374786.1	+	4	1116	c.637C>T	c.(637-639)Cgg>Tgg	p.R213W	NTM_ENST00000474900.1_3'UTR|NTM_ENST00000427481.2_Missense_Mutation_p.R204W|NTM_ENST00000539799.1_Missense_Mutation_p.R213W|NTM_ENST00000374784.1_Missense_Mutation_p.R213W|NTM_ENST00000425719.2_Missense_Mutation_p.R213W|NTM_ENST00000374791.3_Missense_Mutation_p.R213W	NM_001144058.1|NM_016522.2	NP_001137530.1|NP_057606.1	Q9P121	NTRI_HUMAN	neurotrimin	213	Ig-like C2-type 2.				cell adhesion (GO:0007155)|neuron recognition (GO:0008038)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)		p.R213W(2)		breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(9)|lung(30)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	56						GCCCGTGGTACGGAGAGTAAA	0.582																																						ENST00000374786.1																			2	Substitution - Missense(2)	p.R213W(2)	large_intestine(2)	breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(9)|lung(30)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	56						c.(637-639)Cgg>Tgg		neurotrimin							83	72	76					11																	132177693		2201	4297	6498	SO:0001583	missense	50863				cell adhesion|neuron recognition	anchored to membrane|plasma membrane		g.chr11:132177693C>T	AF126426	CCDS8491.1, CCDS41733.1, CCDS44777.1, CCDS44778.1	11q25	2013-01-11			ENSG00000182667	ENSG00000182667		"Immunoglobulin superfamily / I-set domain containing"	17941	protein-coding gene	gene with protein product	"neurotrimin", "IgLON family member 2"	607938				7891157	Standard	NM_001048209		Approved	HNT, NTRI, IGLON2	uc001qgq.3	Q9P121	OTTHUMG00000066364	ENST00000374786.1:c.637C>T	11.37:g.132177693C>T	ENSP00000363918:p.Arg213Trp					NTM_ENST00000374784.1_Missense_Mutation_p.R213W|NTM_ENST00000474900.1_3'UTR|NTM_ENST00000425719.2_Missense_Mutation_p.R213W|NTM_ENST00000427481.2_Missense_Mutation_p.R204W|NTM_ENST00000539799.1_Missense_Mutation_p.R213W|NTM_ENST00000374791.3_Missense_Mutation_p.R213W	p.R213W	NM_001144058.1|NM_016522.2	NP_001137530.1|NP_057606.1	Q9P121	NTRI_HUMAN			4	1116	+			213			Ig-like C2-type 2.		A0MTT2|Q6UXJ3|Q86VJ9	Missense_Mutation	SNP	ENST00000374786.1	37	c.637C>T	CCDS8491.1	.	.	.	.	.	.	.	.	.	.	C	18.10	3.547537	0.65311	.	.	ENSG00000182667	ENST00000374791;ENST00000539799;ENST00000427481;ENST00000374786;ENST00000425719;ENST00000374784	T;T;T;T;T;T	0.67698	-0.28;-0.28;-0.28;-0.28;-0.28;-0.28	5.78	4.82	0.62117	Immunoglobulin I-set (1);Immunoglobulin-like (1);	0.046634	0.85682	D	0.000000	D	0.82852	0.5127	M	0.82433	2.59	0.49582	D	0.999802	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.81914	0.995;0.995;0.995;0.993;0.988;0.988	D	0.85003	0.0901	10	0.87932	D	0	-20.1674	16.8142	0.85729	0.1289:0.8711:0.0:0.0	.	213;204;213;213;213;213	B7Z1Z5;B7Z1I4;Q9P121-4;Q9P121;Q9P121-3;Q9P121-2	.;.;.;NTRI_HUMAN;.;.	W	213;213;204;213;213;213	ENSP00000363923:R213W;ENSP00000437668:R213W;ENSP00000416320:R204W;ENSP00000363918:R213W;ENSP00000396722:R213W;ENSP00000363916:R213W	ENSP00000363916:R213W	R	+	1	2	NTM	131682903	0.991000	0.36638	0.969000	0.41365	0.207000	0.24258	2.989000	0.49393	2.894000	0.99253	0.591000	0.81541	CGG		0.582	NTM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000141937.1	NM_016522		12	66	0	0	0	0.435327	0	12	66					T	132177693	C	T	132177693	3	4	75	1	0	0	0	0	1	0	0	0	10699	527	19	1	737	1	NTM	11	132177693	Missense_Mutation	SNP	C	TCGA-EJ-5531-01A-01D-1576-08	3309374	132177693	2828823	30	3949											
C12orf11	55726	broad.mit.edu	37	chr12	27081791	27081791	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaatactgcagcactctggAtctgcccgaggattaggagg	11	8	13	9	1	2	1	0	0	2	1	2	5	2	4	1	4	4	2	1	4	3	2			TCGA-EJ-5531-01A-01D-1576-08	TCGA-EJ-5531-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729e845e-9b3f-47df-9400-07a81f3a5c12	85790f6e-85d7-4f6a-8784-4900d2364873	g.chr12:27081791A>C	ENST00000261191.7	-	4	884	c.348T>G	c.(346-348)gaT>gaG	p.D116E	ASUN_ENST00000539625.1_Missense_Mutation_p.D15E	NM_018164.2	NP_060634.2	Q9NVM9	ASUN_HUMAN	asunder spermatogenesis regulator	116					centrosome localization (GO:0051642)|mitotic nuclear division (GO:0007067)|mitotic spindle organization (GO:0007052)|protein localization to nuclear envelope (GO:0090435)|regulation of fertilization (GO:0080154)|regulation of mitotic cell cycle (GO:0007346)|sperm motility (GO:0030317)	cytoplasm (GO:0005737)|nucleus (GO:0005634)											AGCACTCTGGATCTGCCCGAG	0.448																																						ENST00000261191.7																			0											c.(346-348)gaT>gaG		asunder spermatogenesis regulator							66	62	63					12																	27081791		2203	4300	6503	SO:0001583	missense	55726				cell division|mitosis|regulation of mitotic cell cycle		protein binding	g.chr12:27081791A>C	AK001222	CCDS8708.1	12p12.3	2013-05-08	2013-05-08	2011-12-09	ENSG00000064102	ENSG00000064102			20174	protein-coding gene	gene with protein product	"spermatogenesis associated 30"	615079	"chromosome 12 open reading frame 11", "asunder, spermatogenesis regulator homolog (Drosphila)"	C12orf11		12414650, 19357193, 23097494	Standard	NM_018164		Approved	FLJ10637, NET48, Mat89Bb, SPATA30	uc001rhk.4	Q9NVM9	OTTHUMG00000169193	ENST00000261191.7:c.348T>G	12.37:g.27081791A>C	ENSP00000261191:p.Asp116Glu					ASUN_ENST00000539625.1_Missense_Mutation_p.D15E	p.D116E	NM_018164.2	NP_060634.2	Q9NVM9	M89BB_HUMAN			4	884	-			116					B4DNK1|Q86WE2|Q96HM2|Q9BTX2|Q9NTB6|Q9NVM5	Missense_Mutation	SNP	ENST00000261191.7	37	c.348T>G	CCDS8708.1	.	.	.	.	.	.	.	.	.	.	A	12.23	1.876778	0.33162	.	.	ENSG00000064102	ENST00000261191;ENST00000539625;ENST00000538727;ENST00000544548;ENST00000537336	T;T;T;T;T	0.42131	0.98;0.98;0.98;0.98;0.98	5.16	-2.73	0.05950	.	0.052015	0.85682	D	0.000000	T	0.48537	0.1505	L	0.47716	1.5	0.47183	D	0.999343	D	0.63046	0.992	D	0.76071	0.987	T	0.46442	-0.9191	10	0.17369	T	0.5	-23.8794	12.8426	0.57811	0.4484:0.0:0.5516:0.0	.	116	Q9NVM9	M89BB_HUMAN	E	116;15;15;116;116	ENSP00000261191:D116E;ENSP00000443724:D15E;ENSP00000448467:D15E;ENSP00000446183:D116E;ENSP00000443066:D116E	ENSP00000261191:D116E	D	-	3	2	C12orf11	26973058	0.994000	0.37717	0.990000	0.47175	0.998000	0.95712	0.342000	0.19926	-0.429000	0.07329	0.482000	0.46254	GAT		0.448	ASUN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402819.1	NM_018164		4	74	0	0	0	0.150653	0	4	74					C	27081791	A	C	27081791	3	2	75	1	0	0	0	0	1	0	0	0	1675	330	12	5	1828	5	C12orf11	12	27081791	Missense_Mutation	SNP	A	TCGA-EJ-5531-01A-01D-1576-08		27081791	106770104	31	3950											
MLL2	8085	broad.mit.edu	37	chr12	49430959	49430959	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgctgcattgccaattgctGcggcttcatgcacatggaag	8	11	11	11	1	1	0	1	0	0	0	1	1	1	1	1	2	6	5	1	2	2	3			TCGA-EJ-5531-01A-01D-1576-08	TCGA-EJ-5531-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729e845e-9b3f-47df-9400-07a81f3a5c12	85790f6e-85d7-4f6a-8784-4900d2364873	g.chr12:49430959G>A	ENST00000301067.7	-	34	10179	c.10180C>T	c.(10180-10182)Cag>Tag	p.Q3394*	KMT2D_ENST00000549743.1_5'UTR	NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	3394	Gln-rich.				chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.Q3394*(1)|p.Q3124*(1)									GCCAATTGCTGCGGCTTCATG	0.537																																						ENST00000301067.7																			2	Substitution - Nonsense(2)	p.Q3394*(1)|p.Q3124*(1)	prostate(2)								c.(10180-10182)Cag>Tag		lysine (K)-specific methyltransferase 2D							50	50	50					12																	49430959		2097	4238	6335	SO:0001587	stop_gained	8085							g.chr12:49430959G>A	AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	7133	protein-coding gene	gene with protein product		602113	"trinucleotide repeat containing 21", "myeloid/lymphoid or mixed-lineage leukemia 2"	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.10180C>T	12.37:g.49430959G>A	ENSP00000301067:p.Gln3394*					KMT2D_ENST00000549743.1_5'UTR	p.Q3394*	NM_003482.3	NP_003473.3					34	10179	-								O14687	Nonsense_Mutation	SNP	ENST00000301067.7	37	c.10180C>T	CCDS44873.1	.	.	.	.	.	.	.	.	.	.	G	51	17.761323	0.99892	.	.	ENSG00000167548	ENST00000301067	.	.	.	5.47	5.47	0.80525	.	0.000000	0.36338	N	0.002643	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	18.4919	0.90851	0.0:0.0:1.0:0.0	.	.	.	.	X	3394	.	ENSP00000301067:Q3394X	Q	-	1	0	MLL2	47717226	1.000000	0.71417	0.997000	0.53966	0.963000	0.63663	6.573000	0.74009	2.758000	0.94735	0.561000	0.74099	CAG		0.537	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2			8	39	0	0	0	0.27861	0	8	39					A	49430959	G	A	49430959	4	1	75	1	0	0	0	0	0	1	0	0	9621	1328	46	3	6517	3	MLL2	12	49430959	Nonsense_Mutation	SNP	G	TCGA-EJ-5531-01A-01D-1576-08	22349168	49430959	84420936	32	3951											
CSAD	51380	broad.mit.edu	37	chr12	53567192	53567192	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	acaaccccaaacacggcccgGagcaaggcttccacagccac	13	2	8	18	2	0	0	0	0	0	0	1	1	1	1	5	3	4	2	5	3	3	1			TCGA-EJ-5531-01A-01D-1576-08	TCGA-EJ-5531-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729e845e-9b3f-47df-9400-07a81f3a5c12	85790f6e-85d7-4f6a-8784-4900d2364873	g.chr12:53567192G>A	ENST00000444623.1	-	4	330	c.63C>T	c.(61-63)ctC>ctT	p.L21L	CSAD_ENST00000491654.1_5'UTR|CSAD_ENST00000453446.2_Silent_p.L21L|CSAD_ENST00000379846.1_Silent_p.L21L|CSAD_ENST00000267085.4_Silent_p.L48L|CSAD_ENST00000542115.1_Silent_p.L21L|CSAD_ENST00000379843.3_Silent_p.L21L	NM_001244705.1	NP_001231634.1	Q9Y600	CSAD_HUMAN	cysteine sulfinic acid decarboxylase	21					cellular nitrogen compound metabolic process (GO:0034641)|small molecule metabolic process (GO:0044281)|sulfur amino acid catabolic process (GO:0000098)|sulfur amino acid metabolic process (GO:0000096)|taurine biosynthetic process (GO:0042412)		pyridoxal phosphate binding (GO:0030170)|sulfinoalanine decarboxylase activity (GO:0004782)			kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(4)	14					L-Cysteine(DB00151)	ACACGGCCCGGAGCAAGGCTT	0.562																																					Ovarian(109;252 1546 16882 28524 44645)	ENST00000267085.4																			0				kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(4)	14						c.(142-144)ctC>ctT		cysteine sulfinic acid decarboxylase	L-Cysteine(DB00151)|Pyridoxal Phosphate(DB00114)						85	77	80					12																	53567192		2203	4300	6503	SO:0001819	synonymous_variant	51380				carboxylic acid metabolic process		pyridoxal phosphate binding|sulfinoalanine decarboxylase activity	g.chr12:53567192G>A	AB044561	CCDS8848.2, CCDS58235.1	12q13.11-q14.3	2008-08-04			ENSG00000139631	ENSG00000139631			18966	protein-coding gene	gene with protein product	"P-selectin cytoplasmic tail-associated protein"					15489334	Standard	NM_015989		Approved	PCAP, CSD	uc001sbz.3	Q9Y600	OTTHUMG00000048076	ENST00000444623.1:c.63C>T	12.37:g.53567192G>A						CSAD_ENST00000379843.3_Silent_p.L21L|CSAD_ENST00000453446.2_Silent_p.L21L|CSAD_ENST00000379846.1_Silent_p.L21L|CSAD_ENST00000444623.1_Silent_p.L21L|CSAD_ENST00000491654.1_5'UTR|CSAD_ENST00000542115.1_Silent_p.L21L	p.L48L	NM_001244706.1|NM_015989.4	NP_001231635.1|NP_057073.4	Q9Y600	CSAD_HUMAN			4	377	-			21					A8K0U4|Q4QQH9|Q9UNJ5|Q9Y601	Silent	SNP	ENST00000444623.1	37	c.144C>T	CCDS58235.1	.	.	.	.	.	.	.	.	.	.	G	4.202	0.036278	0.08148	.	.	ENSG00000139631	ENST00000379850	.	.	.	5.08	-0.932	0.10435	.	.	.	.	.	T	0.39759	0.1090	.	.	.	0.58432	D	0.999996	.	.	.	.	.	.	T	0.26744	-1.0094	4	.	.	.	-22.5299	1.0614	0.01601	0.3938:0.1503:0.3022:0.1537	.	.	.	.	S	47	.	.	P	-	1	0	CSAD	51853459	0.547000	0.26465	0.379000	0.26080	0.429000	0.31625	-0.051000	0.11885	-0.059000	0.13154	0.655000	0.94253	CCG		0.562	CSAD-017	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343697.1	NM_015989		11	104	0	0	0	0.411799	0	11	104					A	53567192	G	A	53567192	2	1	75	1	0	0	0	0	0	0	0	1	3925	1161	41	3		3	CSAD	12	53567192	Silent	SNP	G	TCGA-EJ-5531-01A-01D-1576-08	4136233	53567192	80284703	33	3952											
ZFC3H1	196441	broad.mit.edu	37	chr12	72026778	72026778	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagctttcttaattgtaacaCgctgttgaactctgtgaatc	11	15	7	8	1	2	2	0	2	2	0	3	2	2	2	0	0	3	4	0	0	5	5			TCGA-EJ-5531-01A-01D-1576-08	TCGA-EJ-5531-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729e845e-9b3f-47df-9400-07a81f3a5c12	85790f6e-85d7-4f6a-8784-4900d2364873	g.chr12:72026778C>T	ENST00000378743.3	-	14	3063	c.2705G>A	c.(2704-2706)cGt>cAt	p.R902H		NM_144982.4	NP_659419.3	O60293	ZC3H1_HUMAN	zinc finger, C3H1-type containing	902					RNA processing (GO:0006396)	extracellular space (GO:0005615)|intracellular (GO:0005622)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						AATTGTAACACGCTGTTGAAC	0.358																																						ENST00000378743.3																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						c.(2704-2706)cGt>cAt		zinc finger, C3H1-type containing							83	73	76					12																	72026778		1810	4074	5884	SO:0001583	missense	196441				RNA processing	intracellular	metal ion binding	g.chr12:72026778C>T	AB011118	CCDS41813.1	12q21.1	2013-01-25	2008-10-01	2008-10-01		ENSG00000133858		"Zinc finger, C3H1-type containing"	28328	protein-coding gene	gene with protein product			"proline/serine-rich coiled-coil 2", "coiled-coil domain containing 131"	PSRC2, CCDC131		9628581	Standard	NM_144982		Approved	MGC23401, KIAA0546	uc001swo.2	O60293	OTTHUMG00000169545	ENST00000378743.3:c.2705G>A	12.37:g.72026778C>T	ENSP00000368017:p.Arg902His						p.R902H	NM_144982.4	NP_659419.3	O60293	ZC3H1_HUMAN			14	3063	-			902					Q6GMU1|Q6P2S9|Q6ZV36|Q96BE7	Missense_Mutation	SNP	ENST00000378743.3	37	c.2705G>A	CCDS41813.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.022730	0.75275	.	.	ENSG00000133858	ENST00000378743	T	0.39592	1.07	5.26	5.26	0.73747	.	0.000000	0.64402	D	0.000001	T	0.55305	0.1912	L	0.29908	0.895	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.58470	-0.7631	10	0.62326	D	0.03	.	18.872	0.92319	0.0:1.0:0.0:0.0	.	902	O60293	ZC3H1_HUMAN	H	902	ENSP00000368017:R902H	ENSP00000368017:R902H	R	-	2	0	ZFC3H1	70313045	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	6.310000	0.72830	2.473000	0.83533	0.460000	0.39030	CGT		0.358	ZFC3H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404751.1	NM_144982		5	54	0	0	0	0.184627	0	5	54					T	72026778	C	T	72026778	3	4	75	1	0	0	0	0	1	0	0	0	17630	536	19	1	3352	1	ZFC3H1	12	72026778	Missense_Mutation	SNP	C	TCGA-EJ-5531-01A-01D-1576-08	18459586	72026778	61825117	34	3953											
SSH1	54434	broad.mit.edu	37	chr12	109181845	109181845	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ttggaggttgcagctgggtcCctcggggttccctggggctc	2	11	17	11	1	0	0	0	0	0	0	4	1	2	1	2	7	2	5	2	7	0	3	rs146644569		TCGA-EJ-5531-01A-01D-1576-08	TCGA-EJ-5531-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729e845e-9b3f-47df-9400-07a81f3a5c12	85790f6e-85d7-4f6a-8784-4900d2364873	g.chr12:109181845C>G	ENST00000326495.5	-	15	3162	c.3069G>C	c.(3067-3069)agG>agC	p.R1023S	SSH1_ENST00000360239.3_Missense_Mutation_p.R711S	NM_018984.3	NP_061857.3	Q8WYL5	SSH1_HUMAN	slingshot protein phosphatase 1	1023	Interaction with YWHAG.				actin cytoskeleton organization (GO:0030036)|cell morphogenesis (GO:0000902)|cellular response to ATP (GO:0071318)|protein dephosphorylation (GO:0006470)|regulation of actin polymerization or depolymerization (GO:0008064)|regulation of axonogenesis (GO:0050770)|regulation of cellular protein metabolic process (GO:0032268)|regulation of lamellipodium assembly (GO:0010591)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|DNA binding (GO:0003677)|phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.R1023S(1)		breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(8)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						CAGCTGGGTCCCTCGGGGTTC	0.572																																						ENST00000326495.5																			1	Substitution - Missense(1)	p.R1023S(1)	prostate(1)	breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(8)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						c.(3067-3069)agG>agC		slingshot protein phosphatase 1							101	107	105					12																	109181845		2203	4300	6503	SO:0001583	missense	54434				actin cytoskeleton organization|cell morphogenesis|cellular response to ATP|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of cellular protein metabolic process|regulation of lamellipodium assembly	cleavage furrow|cytoplasm|cytoskeleton|lamellipodium|midbody|plasma membrane	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr12:109181845C>G	BC062341	CCDS9121.1, CCDS53825.1, CCDS55882.1	12q24.12	2013-03-05	2013-03-05			ENSG00000084112		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Slingshots"	30579	protein-coding gene	gene with protein product		606778	"slingshot homolog 1 (Drosophila)"			10718198, 11832213	Standard	NM_018984		Approved	KIAA1298	uc001tnm.3	Q8WYL5	OTTHUMG00000169371	ENST00000326495.5:c.3069G>C	12.37:g.109181845C>G	ENSP00000315713:p.Arg1023Ser					SSH1_ENST00000360239.3_Missense_Mutation_p.R711S	p.R1023S	NM_018984.3	NP_061857.3	Q8WYL5	SSH1_HUMAN			15	3162	-			1023			Interaction with YWHAG.		Q6P6C0|Q8N9A7|Q8WYL3|Q8WYL4|Q9P2P8	Missense_Mutation	SNP	ENST00000326495.5	37	c.3069G>C	CCDS9121.1	.	.	.	.	.	.	.	.	.	.	C	13.54	2.266234	0.40095	.	.	ENSG00000084112	ENST00000360239;ENST00000326495	T;T	0.12255	2.85;2.7	5.27	0.469	0.16741	.	1.004300	0.08021	N	0.991885	T	0.13543	0.0328	L	0.60455	1.87	0.09310	N	1	B;B	0.29988	0.013;0.264	B;B	0.21151	0.009;0.033	T	0.26538	-1.0100	10	0.42905	T	0.14	-11.8243	8.1452	0.31108	0.0:0.3344:0.4955:0.1701	.	1023;711	Q8WYL5;Q8WYL5-4	SSH1_HUMAN;.	S	711;1023	ENSP00000353374:R711S;ENSP00000315713:R1023S	ENSP00000315713:R1023S	R	-	3	2	SSH1	107705974	0.000000	0.05858	0.002000	0.10522	0.008000	0.06430	0.058000	0.14301	0.192000	0.20272	0.650000	0.86243	AGG		0.572	SSH1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000403724.1	NM_018984		28	187	0	0	0	0.706142	0	28	187					G	109181845	C	G	109181845	3	3	75	1	0	0	0	0	1	0	0	0	15183	622	22	5	84	5	SSH1	12	109181845	Missense_Mutation	SNP	C	TCGA-EJ-5531-01A-01D-1576-08	37155067	109181845	24670050	35	3954											
CLN5	1203	broad.mit.edu	37	chr13	77570129	77570129	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cttttccaacttggcaactgTacatttccccatctccgacc	8	13	4	16	1	1	0	0	0	1	0	4	1	3	0	5	1	3	2	5	1	3	5			TCGA-EJ-5531-01A-01D-1576-08	TCGA-EJ-5531-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729e845e-9b3f-47df-9400-07a81f3a5c12	85790f6e-85d7-4f6a-8784-4900d2364873	g.chr13:77570129T>G	ENST00000377453.3	+	3	1871	c.579T>G	c.(577-579)tgT>tgG	p.C193W	CLN5_ENST00000485938.1_3'UTR	NM_006493.2	NP_006484.1	O75503	CLN5_HUMAN	ceroid-lipofuscinosis, neuronal 5	144			N -> K (in CLN5). {ECO:0000269|PubMed:21990111}.		brain development (GO:0007420)|cell death (GO:0008219)|glycosylation (GO:0070085)|lysosomal lumen acidification (GO:0007042)|neurogenesis (GO:0022008)|neuron maturation (GO:0042551)|protein catabolic process (GO:0030163)|signal peptide processing (GO:0006465)|visual perception (GO:0007601)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|perinuclear region of cytoplasm (GO:0048471)|vacuolar lumen (GO:0005775)	mannose binding (GO:0005537)			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1)	16		Acute lymphoblastic leukemia(28;0.205)		GBM - Glioblastoma multiforme(99;0.0503)		TTGGCAACTGTACATTTCCCC	0.418																																						ENST00000377453.3																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1)	16						c.(577-579)tgT>tgG		ceroid-lipofuscinosis, neuronal 5							202	176	185					13																	77570129		2203	4300	6503	SO:0001583	missense	1203				brain development|cell death|lysosomal lumen acidification|neuron maturation|protein catabolic process	endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosomal membrane|perinuclear region of cytoplasm	protein binding	g.chr13:77570129T>G		CCDS9456.1	13q21.2-q32	2014-09-17			ENSG00000102805	ENSG00000102805			2076	protein-coding gene	gene with protein product		608102				7942847, 8661106	Standard	NM_006493		Approved		uc001vkc.3	O75503	OTTHUMG00000017100	ENST00000377453.3:c.579T>G	13.37:g.77570129T>G	ENSP00000366673:p.Cys193Trp					CLN5_ENST00000485938.1_3'UTR	p.C193W	NM_006493.2	NP_006484.1	O75503	CLN5_HUMAN		GBM - Glioblastoma multiforme(99;0.0503)	3	1871	+		Acute lymphoblastic leukemia(28;0.205)	144					B3KQK7	Missense_Mutation	SNP	ENST00000377453.3	37	c.579T>G	CCDS9456.1	.	.	.	.	.	.	.	.	.	.	T	19.55	3.848904	0.71603	.	.	ENSG00000102805	ENST00000377453;ENST00000541907;ENST00000535238	D	0.91351	-2.83	5.54	0.984	0.19773	.	0.000000	0.85682	D	0.000000	D	0.93536	0.7937	M	0.74881	2.28	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.91675	0.5353	10	0.72032	D	0.01	-22.6147	9.1361	0.36875	0.0:0.5106:0.0:0.4894	.	144	O75503	CLN5_HUMAN	W	193;144;59	ENSP00000366673:C193W	ENSP00000366673:C193W	C	+	3	2	CLN5	76468130	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	1.352000	0.34033	0.082000	0.17018	-0.376000	0.06991	TGT		0.418	CLN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045318.1	NM_006493		8	195	0	0	0	0.335167	0	8	195					G	77570129	T	G	77570129	3	3	75	1	0	0	0	0	1	0	0	0	3544	1644	57	5	589	5	CLN5	13	77570129	Missense_Mutation	SNP	T	TCGA-EJ-5531-01A-01D-1576-08		77570129	37599749	36	3955											
GRIN2A	2903	broad.mit.edu	37	chr16	9858034	9858034	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggaaaccaggctccttctCaccatctatagtgtagatct	10	12	8	11	0	3	1	1	0	3	1	5	2	4	2	3	2	1	2	3	2	4	4			TCGA-EJ-5531-01A-01D-1576-08	TCGA-EJ-5531-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729e845e-9b3f-47df-9400-07a81f3a5c12	85790f6e-85d7-4f6a-8784-4900d2364873	g.chr16:9858034C>A	ENST00000396573.2	-	14	3676	c.3367G>T	c.(3367-3369)Gag>Tag	p.E1123*	GRIN2A_ENST00000396575.2_Nonsense_Mutation_p.E1123*|GRIN2A_ENST00000562109.1_Nonsense_Mutation_p.E1123*|GRIN2A_ENST00000535259.1_Nonsense_Mutation_p.E966*|GRIN2A_ENST00000404927.2_Nonsense_Mutation_p.E1123*|GRIN2A_ENST00000330684.3_Nonsense_Mutation_p.E1123*	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	1123					directional locomotion (GO:0033058)|dopamine metabolic process (GO:0042417)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning or memory (GO:0007611)|memory (GO:0007613)|negative regulation of protein catabolic process (GO:0042177)|neurogenesis (GO:0022008)|positive regulation of apoptotic process (GO:0043065)|protein localization (GO:0008104)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic plasticity (GO:0048167)|response to amphetamine (GO:0001975)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to wounding (GO:0009611)|sensory perception of pain (GO:0019233)|serotonin metabolic process (GO:0042428)|sleep (GO:0030431)|startle response (GO:0001964)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)|visual learning (GO:0008542)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)	p.E1123*(1)		NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Glycine(DB00145)|Halothane(DB01159)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	GGCTCCTTCTCACCATCTATA	0.522																																						ENST00000396573.2																			1	Substitution - Nonsense(1)	p.E1123*(1)	prostate(1)	NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198						c.(3367-3369)Gag>Tag		glutamate receptor, ionotropic, N-methyl D-aspartate 2A	Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)						131	130	130					16																	9858034		2197	4300	6497	SO:0001587	stop_gained	0				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	g.chr16:9858034C>A		CCDS10539.1, CCDS45407.1	16p13.2	2012-08-29			ENSG00000183454	ENSG00000183454		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4585	protein-coding gene	gene with protein product		138253		NMDAR2A		9480759	Standard	XM_005255267		Approved	GluN2A	uc002czo.4	Q12879	OTTHUMG00000129721	ENST00000396573.2:c.3367G>T	16.37:g.9858034C>A	ENSP00000379818:p.Glu1123*					GRIN2A_ENST00000404927.2_Nonsense_Mutation_p.E1123*|GRIN2A_ENST00000396575.2_Nonsense_Mutation_p.E1123*|GRIN2A_ENST00000330684.3_Nonsense_Mutation_p.E1123*|GRIN2A_ENST00000562109.1_Nonsense_Mutation_p.E1123*|GRIN2A_ENST00000535259.1_Nonsense_Mutation_p.E966*	p.E1123*	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN			14	3676	-			1123					O00669|Q17RZ6	Nonsense_Mutation	SNP	ENST00000396573.2	37	c.3367G>T	CCDS10539.1	.	.	.	.	.	.	.	.	.	.	C	38	7.249857	0.98164	.	.	ENSG00000183454	ENST00000396573;ENST00000404927;ENST00000535259;ENST00000330684;ENST00000396575	.	.	.	5.42	5.42	0.78866	.	0.144877	0.64402	D	0.000009	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.2268	0.89920	0.0:1.0:0.0:0.0	.	.	.	.	X	1123;1123;966;1123;1123	.	.	E	-	1	0	GRIN2A	9765535	1.000000	0.71417	0.952000	0.39060	0.433000	0.31745	7.395000	0.79876	2.543000	0.85770	0.650000	0.86243	GAG		0.522	GRIN2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251930.3			18	286	1	0	2.37509e-13	0.592651	2.59385e-13	18	286					A	9858034	C	A	9858034	4	1	75	1	0	0	0	0	0	1	0	0	6779	835	29	5	1031	5	GRIN2A	16	9858034	Nonsense_Mutation	SNP	C	TCGA-EJ-5531-01A-01D-1576-08		9858034	80496719	37	3956											
ACSM2B	348158	broad.mit.edu	37	chr16	20554289	20554289	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	agccgtctcaaccacagcagGgtgcttcatcagtgcattct	9	10	9	13	1	4	0	3	0	2	0	5	0	4	0	2	1	5	3	2	1	1	2			TCGA-EJ-5531-01A-01D-1576-08	TCGA-EJ-5531-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729e845e-9b3f-47df-9400-07a81f3a5c12	85790f6e-85d7-4f6a-8784-4900d2364873	g.chr16:20554289G>A	ENST00000329697.6	-	12	1624	c.1456C>T	c.(1456-1458)Cct>Tct	p.P486S	ACSM2B_ENST00000565322.1_Missense_Mutation_p.P407S|ACSM2B_ENST00000565232.1_Missense_Mutation_p.P486S|ACSM2B_ENST00000567288.1_5'Flank|ACSM2B_ENST00000567001.1_Missense_Mutation_p.P486S	NM_001105069.1	NP_001098539.1	Q68CK6	ACS2B_HUMAN	acyl-CoA synthetase medium-chain family member 2B	486					fatty acid metabolic process (GO:0006631)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|metal ion binding (GO:0046872)	p.P486S(2)		breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5)	57						ACCACAGCAGGGTGCTTCATC	0.562																																						ENST00000329697.6																			2	Substitution - Missense(2)	p.P486S(2)	prostate(1)|central_nervous_system(1)	breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5)	57						c.(1456-1458)Cct>Tct		acyl-CoA synthetase medium-chain family member 2B							131	124	126					16																	20554289		2201	4299	6500	SO:0001583	missense	348158				fatty acid metabolic process|xenobiotic metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|CoA-ligase activity|metal ion binding	g.chr16:20554289G>A	AY160217	CCDS10586.1	16p12.3	2014-08-08	2007-06-20	2007-06-20	ENSG00000066813	ENSG00000066813		"Acyl-CoA synthetase family"	30931	protein-coding gene	gene with protein product	"xenobiotic/medium chain fatty acid:CoA ligase"	614359	"acyl-CoA synthetase medium-chain family member 2"	ACSM2		12616642	Standard	NM_182617		Approved	HXMA, HYST1046	uc002dhk.4	Q68CK6	OTTHUMG00000131555	ENST00000329697.6:c.1456C>T	16.37:g.20554289G>A	ENSP00000327453:p.Pro486Ser					ACSM2B_ENST00000567001.1_Missense_Mutation_p.P486S|ACSM2B_ENST00000565232.1_Missense_Mutation_p.P486S|ACSM2B_ENST00000565322.1_Missense_Mutation_p.P407S	p.P486S	NM_001105069.1	NP_001098539.1	Q68CK6	ACS2B_HUMAN			12	1624	-			486					Q86YT1	Missense_Mutation	SNP	ENST00000329697.6	37	c.1456C>T	CCDS10586.1	.	.	.	.	.	.	.	.	.	.	G	18.14	3.558426	0.65538	.	.	ENSG00000066813	ENST00000329697	T	0.65732	-0.17	3.1	3.1	0.35709	AMP-dependent synthetase/ligase (1);	0.168493	0.28834	N	0.013983	T	0.75384	0.3842	M	0.73962	2.25	0.80722	D	1	P;D	0.53745	0.931;0.962	P;P	0.61477	0.889;0.889	T	0.80446	-0.1379	10	0.87932	D	0	-5.1114	14.3347	0.66581	0.0:0.0:1.0:0.0	.	486;486	A8K051;Q68CK6	.;ACS2B_HUMAN	S	486	ENSP00000327453:P486S	ENSP00000327453:P486S	P	-	1	0	ACSM2B	20461790	1.000000	0.71417	0.962000	0.40283	0.602000	0.36980	4.215000	0.58534	1.743000	0.51761	0.508000	0.49915	CCT		0.562	ACSM2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254417.2	NM_182617		13	124	0	0	0	0.479597	0	13	124					A	20554289	G	A	20554289	3	1	75	1	0	0	0	0	1	0	0	0	184	1232	43	3	289	3	ACSM2B	16	20554289	Missense_Mutation	SNP	G	TCGA-EJ-5531-01A-01D-1576-08	10696255	20554289	69800464	38	3957											
KDM6B	23135	broad.mit.edu	37	chr17	7752710	7752710	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccagggtcgtgagaagtcccGgcccgatcttggcggggcct	5	7	16	13	4	1	1	0	1	1	1	3	3	2	1	4	5	0	0	4	5	1	1	rs568630770		TCGA-EJ-5531-01A-01D-1576-08	TCGA-EJ-5531-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729e845e-9b3f-47df-9400-07a81f3a5c12	85790f6e-85d7-4f6a-8784-4900d2364873	g.chr17:7752710G>T	ENST00000448097.2	+	11	3435	c.3104G>T	c.(3103-3105)cGg>cTg	p.R1035L	KDM6B_ENST00000254846.5_Missense_Mutation_p.R1035L			O15054	KDM6B_HUMAN	lysine (K)-specific demethylase 6B	1035					cardiac muscle cell differentiation (GO:0055007)|cellular response to hydrogen peroxide (GO:0070301)|endothelial cell differentiation (GO:0045446)|inflammatory response (GO:0006954)|mesodermal cell differentiation (GO:0048333)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|histone demethylase activity (H3-K27 specific) (GO:0071558)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)			central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|skin(5)	37						GAGAAGTCCCGGCCCGATCTT	0.662																																						ENST00000254846.5																			0				central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|skin(5)	37						c.(3103-3105)cGg>cTg		lysine (K)-specific demethylase 6B							14	13	13					17																	7752710		2183	4272	6455	SO:0001583	missense	23135				inflammatory response	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr17:7752710G>T	AB002344	CCDS32552.1	17p13.1	2011-07-01	2009-04-17	2009-04-17		ENSG00000132510		"Chromatin-modifying enzymes / K-demethylases"	29012	protein-coding gene	gene with protein product		611577	"jumonji domain containing 3", "jumonji domain containing 3, histone lysine demethylase"	JMJD3		10662545, 9205841	Standard	NM_001080424		Approved	KIAA0346	uc002giw.1	O15054		ENST00000448097.2:c.3104G>T	17.37:g.7752710G>T	ENSP00000412513:p.Arg1035Leu					KDM6B_ENST00000448097.2_Missense_Mutation_p.R1035L	p.R1035L	NM_001080424.1	NP_001073893.1	O15054	KDM6B_HUMAN			11	3493	+			1035					C9IZ40|Q96G33	Missense_Mutation	SNP	ENST00000448097.2	37	c.3104G>T		.	.	.	.	.	.	.	.	.	.	G	6.846	0.525325	0.13066	.	.	ENSG00000132510	ENST00000254846;ENST00000448097	T;T	0.34275	1.37;1.38	3.67	2.7	0.31948	.	0.427722	0.17006	N	0.190711	T	0.20780	0.0500	N	0.14661	0.345	0.34479	D	0.703711	P;P	0.48764	0.915;0.901	B;P	0.45276	0.283;0.475	T	0.12293	-1.0553	10	0.32370	T	0.25	-7.9009	5.0674	0.14589	0.2402:0.0:0.7598:0.0	.	1035;1035	O15054;O15054-1	KDM6B_HUMAN;.	L	1035	ENSP00000254846:R1035L;ENSP00000412513:R1035L	ENSP00000254846:R1035L	R	+	2	0	KDM6B	7693435	0.951000	0.32395	0.998000	0.56505	0.487000	0.33371	2.537000	0.45702	2.074000	0.62210	0.462000	0.41574	CGG		0.662	KDM6B-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000440248.1	XM_043272		3	36	1	0	0.115264	0.115264	0.119586	3	36					T	7752710	G	T	7752710	3	4	75	1	0	0	0	0	1	0	0	0	8138	1116	39	5	3134	5	KDM6B	17	7752710	Missense_Mutation	SNP	G	TCGA-EJ-5531-01A-01D-1576-08		7752710	73442500	39	3958											
BLMH	642	broad.mit.edu	37	chr17	28616489	28616489	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacattcagacaagaaaagaTccagcatcgccctgaaacaa	19	5	6	11	1	1	4	1	1	0	3	3	4	2	4	2	0	3	1	2	0	6	1			TCGA-EJ-5531-01A-01D-1576-08	TCGA-EJ-5531-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729e845e-9b3f-47df-9400-07a81f3a5c12	85790f6e-85d7-4f6a-8784-4900d2364873	g.chr17:28616489T>C	ENST00000261714.6	-	3	397	c.223A>G	c.(223-225)Atc>Gtc	p.I75V	BLMH_ENST00000394819.3_Intron|RNU6-1267P_ENST00000410747.1_RNA	NM_000386.3	NP_000377.1	Q13867	BLMH_HUMAN	bleomycin hydrolase	75					antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|protein polyubiquitination (GO:0000209)|proteolysis (GO:0006508)|response to drug (GO:0042493)|response to toxic substance (GO:0009636)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	aminopeptidase activity (GO:0004177)|carboxypeptidase activity (GO:0004180)|cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)	p.I75V(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(1)|prostate(1)|stomach(1)	13					Bleomycin(DB00290)	CAAGAAAAGATCCAGCATCGC	0.383																																					Pancreas(127;628 1772 12912 33293 36203)	ENST00000261714.6																			1	Substitution - Missense(1)	p.I75V(1)	prostate(1)	breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(1)|prostate(1)|stomach(1)	13						c.(223-225)Atc>Gtc		bleomycin hydrolase							56	54	54					17																	28616489		2203	4300	6503	SO:0001583	missense	642				proteolysis	cytoplasm|nucleus	aminopeptidase activity|carboxypeptidase activity|cysteine-type endopeptidase activity|protein binding	g.chr17:28616489T>C	X92106	CCDS32604.1	17q11.2	2004-02-16				ENSG00000108578			1059	protein-coding gene	gene with protein product		602403				9407121, 9331073	Standard	NM_000386		Approved	BH	uc002hez.2	Q13867		ENST00000261714.6:c.223A>G	17.37:g.28616489T>C	ENSP00000261714:p.Ile75Val					BLMH_ENST00000394819.3_Intron	p.I75V	NM_000386.3	NP_000377.1	Q13867	BLMH_HUMAN			3	397	-			75					B2R796|Q53F86|Q9UER9	Missense_Mutation	SNP	ENST00000261714.6	37	c.223A>G	CCDS32604.1	.	.	.	.	.	.	.	.	.	.	T	25.6	4.658745	0.88154	.	.	ENSG00000108578	ENST00000261714	T	0.46063	0.88	5.56	5.56	0.83823	.	0.000000	0.85682	D	0.000000	T	0.65471	0.2694	M	0.87038	2.855	0.80722	D	1	P	0.43392	0.805	P	0.55455	0.776	T	0.71384	-0.4609	10	0.72032	D	0.01	-16.2345	14.897	0.70651	0.0:0.0:0.0:1.0	.	75	Q13867	BLMH_HUMAN	V	75	ENSP00000261714:I75V	ENSP00000261714:I75V	I	-	1	0	BLMH	25640615	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.250000	0.78287	2.100000	0.63781	0.528000	0.53228	ATC		0.383	BLMH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447940.1	NM_000386		7	48	0	0	0	0.27861	0	7	48					C	28616489	T	C	28616489	3	2	75	1	0	0	0	0	1	0	0	0	1446	1435	50	4	1184	4	BLMH	17	28616489	Missense_Mutation	SNP	T	TCGA-EJ-5531-01A-01D-1576-08	20863779	28616489	52578721	40	3959											
CCL7	6354	broad.mit.edu	37	chr17	32597376	32597376	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctttcagcccccaggggcttGctcagccaggtaaggtccct	6	9	11	15	0	2	0	2	0	0	0	3	0	3	0	4	4	3	3	4	4	1	3			TCGA-EJ-5531-01A-01D-1576-08	TCGA-EJ-5531-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729e845e-9b3f-47df-9400-07a81f3a5c12	85790f6e-85d7-4f6a-8784-4900d2364873	g.chr17:32597376G>A	ENST00000378569.2	+	1	137	c.67G>A	c.(67-69)Gct>Act	p.A23T	CCL7_ENST00000200307.4_Missense_Mutation_p.A33T|CCL7_ENST00000394627.1_Missense_Mutation_p.A23T|CCL7_ENST00000394630.3_Missense_Mutation_p.A23T	NM_006273.2	NP_006264.2	P80098	CCL7_HUMAN	chemokine (C-C motif) ligand 7	23					cell-cell signaling (GO:0007267)|cellular calcium ion homeostasis (GO:0006874)|cellular response to ethanol (GO:0071361)|chemotaxis (GO:0006935)|cytoskeleton organization (GO:0007010)|eosinophil chemotaxis (GO:0048245)|immune response (GO:0006955)|inflammatory response (GO:0006954)|monocyte chemotaxis (GO:0002548)|positive regulation of cell migration (GO:0030335)|positive regulation of natural killer cell chemotaxis (GO:2000503)|regulation of cell shape (GO:0008360)|response to gamma radiation (GO:0010332)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	CCR1 chemokine receptor binding (GO:0031726)|chemokine activity (GO:0008009)|heparin binding (GO:0008201)			autonomic_ganglia(1)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)	7	Breast(3;0.00224)	Breast(31;0.151)|Ovarian(249;0.17)		BRCA - Breast invasive adenocarcinoma(366;0.155)		CCAGGGGCTTGCTCAGCCAGG	0.557																																						ENST00000378569.2																			0				autonomic_ganglia(1)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)	7						c.(67-69)Gct>Act		chemokine (C-C motif) ligand 7							74	66	69					17																	32597376		2203	4300	6503	SO:0001583	missense	6354				cell-cell signaling|cellular calcium ion homeostasis|chemotaxis|immune response|inflammatory response|signal transduction	extracellular space	chemokine activity|heparin binding	g.chr17:32597376G>A	AF043338	CCDS11278.1	17q11.2-q12	2013-02-25	2002-08-22	2002-08-23	ENSG00000108688	ENSG00000108688		"Chemokine ligands", "Endogenous ligands"	10634	protein-coding gene	gene with protein product	"monocyte chemoattractant protein 3", "monocyte chemotactic protein 3"	158106	"small inducible cytokine A7 (monocyte chemotactic protein 3)"	SCYA6, SCYA7		8461011	Standard	NM_006273		Approved	MCP-3, NC28, FIC, MARC, MCP3	uc002hhz.4	P80098	OTTHUMG00000132889	ENST00000378569.2:c.67G>A	17.37:g.32597376G>A	ENSP00000367832:p.Ala23Thr					CCL7_ENST00000394627.1_Missense_Mutation_p.A23T|CCL7_ENST00000394630.3_Missense_Mutation_p.A23T|CCL7_ENST00000200307.4_Missense_Mutation_p.A33T	p.A23T	NM_006273.2	NP_006264.2	P80098	CCL7_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.155)	1	137	+	Breast(3;0.00224)	Breast(31;0.151)|Ovarian(249;0.17)	23					Q569J6	Missense_Mutation	SNP	ENST00000378569.2	37	c.67G>A	CCDS11278.1	.	.	.	.	.	.	.	.	.	.	G	10.19	1.281378	0.23392	.	.	ENSG00000108688	ENST00000378569;ENST00000200307;ENST00000394630;ENST00000394627	.	.	.	4.28	1.14	0.20703	Chemokine interleukin-8-like domain (1);	0.156231	0.29956	N	0.010773	T	0.28200	0.0696	.	.	.	0.26397	N	0.976487	P	0.50156	0.932	P	0.45037	0.467	T	0.12400	-1.0549	8	0.48119	T	0.1	.	4.713	0.12882	0.1989:0.1776:0.6235:0.0	.	23	P80098	CCL7_HUMAN	T	33;23;33;33	.	ENSP00000200307:A23T	A	+	1	0	CCL7	29621489	0.004000	0.15560	0.581000	0.28614	0.142000	0.21351	0.455000	0.21843	0.184000	0.20083	0.650000	0.86243	GCT		0.557	CCL7-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256386.2	NM_006273		9	85	0	0	0	0.361761	0	9	85					A	32597376	G	A	32597376	3	1	75	1	0	0	0	0	1	0	0	0	2906	1319	46	3	69	3	CCL7	17	32597376	Missense_Mutation	SNP	G	TCGA-EJ-5531-01A-01D-1576-08	3980887	32597376	48597834	41	3960											
KRTAP1-3	81850	broad.mit.edu	37	chr17	39190954	39190954	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	aatccgcagaagctggtctgGcagcagcttggctggcagca	9	7	14	11	1	1	1	0	0	1	1	2	1	2	1	1	4	4	8	1	4	2	1	rs71300033|rs75033421		TCGA-EJ-5531-01A-01D-1576-08	TCGA-EJ-5531-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729e845e-9b3f-47df-9400-07a81f3a5c12	85790f6e-85d7-4f6a-8784-4900d2364873	g.chr17:39190954G>A	ENST00000344363.5	-	1	153	c.120C>T	c.(118-120)tgC>tgT	p.C40C		NM_030966.1	NP_112228.1	Q8IUG1	KRA13_HUMAN	keratin associated protein 1-3	40						keratin filament (GO:0045095)	structural constituent of epidermis (GO:0030280)			cervix(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(6)	12		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			AGCTGGTCTGGCAGCAGCTTG	0.607																																						ENST00000344363.5																			0				cervix(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(6)	12						c.(118-120)tgC>tgT		keratin associated protein 1-3							44	52	49					17																	39190954		1969	4174	6143	SO:0001819	synonymous_variant	81850					extracellular region|keratin filament	structural constituent of epidermis	g.chr17:39190954G>A	AJ406927	CCDS42323.1	17q21.2	2013-06-20			ENSG00000221880	ENSG00000221880		"Keratin associated proteins"	16771	protein-coding gene	gene with protein product		608820				11279113	Standard	NM_030966		Approved	KAP1.3	uc002hvv.3	Q8IUG1	OTTHUMG00000133583	ENST00000344363.5:c.120C>T	17.37:g.39190954G>A							p.C40C	NM_030966.1	NP_112228.1	Q8IUG1	KRA13_HUMAN	STAD - Stomach adenocarcinoma(17;0.000371)		1	153	-		Breast(137;0.000496)	40					Q07628|Q8IUG0|Q9BYS2	Silent	SNP	ENST00000344363.5	37	c.120C>T	CCDS42323.1																																																																																				0.607	KRTAP1-3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257687.1			8	150	0	0	0	0.479597	0	8	150					A	39190954	G	A	39190954	2	1	75	1	0	0	0	0	0	0	0	1	8503	1195	42	3		3	KRTAP1-3	17	39190954	Silent	SNP	G	TCGA-EJ-5531-01A-01D-1576-08	6593578	39190954	42004256	42	3961											
KRTAP4-8	728224	broad.mit.edu	37	chr17	39254005	39254005	+	Missense_Mutation	SNP	T	T	C																															cagactggcagcactggggcTtgcagcagctggacacacag																										TCGA-EJ-5531-01A-01D-1576-08	TCGA-EJ-5531-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729e845e-9b3f-47df-9400-07a81f3a5c12	85790f6e-85d7-4f6a-8784-4900d2364873	g.chr17:39254005T>C	ENST00000333822.4	-	1	388	c.332A>G	c.(331-333)aAg>aGg	p.K111R		NM_031960.2	NP_114166.1	Q9BYQ9	KRA48_HUMAN	keratin associated protein 4-8	111	25 X 5 AA repeats of C-C-[IKRQVHEC]- [SPRT]-[STCVQPR].				aging (GO:0007568)|hair cycle (GO:0042633)	keratin filament (GO:0045095)				endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|prostate(1)	11						gcactggggcttgcagcagct	0.662																																						ENST00000333822.4																			0				endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|prostate(1)	11						c.(331-333)aAg>aGg		keratin associated protein 4-8							3	6	5					17																	39254005		616	1468	2084	SO:0001583	missense	728224					keratin filament		g.chr17:39254005T>C	AJ406940	CCDS45674.1	17q21.2	2013-06-25			ENSG00000204880	ENSG00000204880		"Keratin associated proteins"	17230	protein-coding gene	gene with protein product						11279113	Standard	NM_031960		Approved	KAP4.8	uc010wfo.2	Q9BYQ9	OTTHUMG00000133580	ENST00000333822.4:c.332A>G	17.37:g.39254005T>C	ENSP00000328444:p.Lys111Arg						p.K111R	NM_031960.2	NP_114166.1	Q9BYQ9	KRA48_HUMAN			1	388	-			111			25 X 5 AA repeats of C-C-[IKRQVHEC]- [SPRT]-[STCVQPR].		A8MSH3	Missense_Mutation	SNP	ENST00000333822.4	37	c.332A>G	CCDS45674.1	.	.	.	.	.	.	.	.	.	.	.	5.267	0.234743	0.09969	.	.	ENSG00000204880	ENST00000333822;ENST00000332991	T	0.01335	5.0	3.1	-0.14	0.13456	.	2.576260	0.02730	U	0.114939	T	0.00412	0.0013	N	0.00069	-2.28	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.50030	-0.8875	10	0.02654	T	1	.	5.1182	0.14847	0.0:0.5661:0.0:0.4339	.	111	Q9BYQ9	KRA48_HUMAN	R	111;96	ENSP00000328444:K111R	ENSP00000414561:K96R	K	-	2	0	KRTAP4-8	36507531	0.000000	0.05858	0.073000	0.20177	0.954000	0.61252	-0.248000	0.08854	0.169000	0.19679	-0.415000	0.06103	AAG		0.662	KRTAP4-8-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257684.1	NM_031960		4	66	0	0	0	0.361761	0	4	66					C	39254005	T	C	39254005	3	2	75	1	0	0	0	0	1	0	0	0	8556	1609	56	4	229	4	KRTAP4-8	17	39254005	Missense_Mutation	SNP	T	TCGA-EJ-5531-01A-01D-1576-08	63051	39254005	41941205	43	3962	24	2									
KRTAP4-8	728224	broad.mit.edu	37	chr17	39254013	39254013	+	Missense_Mutation	SNP	G	G	C																															cagcactggggcttgcagcaGctggacacacagcagctggg																										TCGA-EJ-5531-01A-01D-1576-08	TCGA-EJ-5531-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729e845e-9b3f-47df-9400-07a81f3a5c12	85790f6e-85d7-4f6a-8784-4900d2364873	g.chr17:39254013G>C	ENST00000333822.4	-	1	380	c.324C>G	c.(322-324)agC>agG	p.S108R		NM_031960.2	NP_114166.1	Q9BYQ9	KRA48_HUMAN	keratin associated protein 4-8	108	25 X 5 AA repeats of C-C-[IKRQVHEC]- [SPRT]-[STCVQPR].				aging (GO:0007568)|hair cycle (GO:0042633)	keratin filament (GO:0045095)		p.S108R(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|prostate(1)	11						gcttgcagcagctggacacac	0.662																																						ENST00000333822.4																			1	Substitution - Missense(1)	p.S108R(1)	lung(1)	endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|prostate(1)	11						c.(322-324)agC>agG		keratin associated protein 4-8							4	6	6					17																	39254013		638	1500	2138	SO:0001583	missense	728224					keratin filament		g.chr17:39254013G>C	AJ406940	CCDS45674.1	17q21.2	2013-06-25			ENSG00000204880	ENSG00000204880		"Keratin associated proteins"	17230	protein-coding gene	gene with protein product						11279113	Standard	NM_031960		Approved	KAP4.8	uc010wfo.2	Q9BYQ9	OTTHUMG00000133580	ENST00000333822.4:c.324C>G	17.37:g.39254013G>C	ENSP00000328444:p.Ser108Arg						p.S108R	NM_031960.2	NP_114166.1	Q9BYQ9	KRA48_HUMAN			1	380	-			108			25 X 5 AA repeats of C-C-[IKRQVHEC]- [SPRT]-[STCVQPR].		A8MSH3	Missense_Mutation	SNP	ENST00000333822.4	37	c.324C>G	CCDS45674.1	.	.	.	.	.	.	.	.	.	.	.	16.95	3.264696	0.59431	.	.	ENSG00000204880	ENST00000333822;ENST00000332991	T	0.00646	6.0	3.21	1.14	0.20703	.	2.295710	0.03395	U	0.202429	T	0.01695	0.0054	M	0.89287	3.02	0.27072	N	0.963304	B	0.34349	0.45	B	0.34093	0.175	T	0.47195	-0.9136	10	0.52906	T	0.07	.	5.4866	0.16753	0.2737:0.0:0.7263:0.0	.	108	Q9BYQ9	KRA48_HUMAN	R	108;93	ENSP00000328444:S108R	ENSP00000414561:S93R	S	-	3	2	KRTAP4-8	36507539	1.000000	0.71417	0.752000	0.31206	0.989000	0.77384	3.228000	0.51270	0.201000	0.20466	0.449000	0.29647	AGC		0.662	KRTAP4-8-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257684.1	NM_031960		4	72	0	0	0	0.27861	0	4	72					C	39254013	G	C	39254013	3	2	75	1	0	0	0	0	1	0	0	0	8556	962	34	5	237	5	KRTAP4-8	17	39254013	Missense_Mutation	SNP	G	TCGA-EJ-5531-01A-01D-1576-08	8	39254013	41941197	44	3963	24	2									
SPOP	8405	broad.mit.edu	37	chr17	47696432	47696432	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgaatttcttgaatccccAgtctttgccttgcacaaacc	10	13	6	12	0	2	2	0	2	2	0	3	3	3	2	4	0	3	1	4	0	3	4			TCGA-EJ-5531-01A-01D-1576-08	TCGA-EJ-5531-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729e845e-9b3f-47df-9400-07a81f3a5c12	85790f6e-85d7-4f6a-8784-4900d2364873	g.chr17:47696432A>G	ENST00000393328.2	-	6	756	c.391T>C	c.(391-393)Tgg>Cgg	p.W131R	SPOP_ENST00000347630.2_Missense_Mutation_p.W131R|SPOP_ENST00000503676.1_Missense_Mutation_p.W131R|SPOP_ENST00000393331.3_Missense_Mutation_p.W131R|SPOP_ENST00000504102.1_Missense_Mutation_p.W131R|SPOP_ENST00000513080.1_5'Flank	NM_003563.3	NP_003554.1	O43791	SPOP_HUMAN	speckle-type POZ protein	131	Important for binding substrate proteins.|MATH. {ECO:0000255|PROSITE- ProRule:PRU00129}.|Required for nuclear localization.				glucose homeostasis (GO:0042593)|positive regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902237)|positive regulation of type B pancreatic cell apoptotic process (GO:2000676)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	Cul3-RING ubiquitin ligase complex (GO:0031463)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	ubiquitin protein ligase binding (GO:0031625)	p.W131G(2)|p.W131R(1)		endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						TTGAATCCCCAGTCTTTGCCT	0.458										Prostate(2;0.17)																												ENST00000393331.3																			3	Substitution - Missense(3)	p.W131G(2)|p.W131R(1)	prostate(3)	endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						c.(391-393)Tgg>Cgg		speckle-type POZ protein							121	124	123					17																	47696432		2203	4300	6503	SO:0001583	missense	8405				mRNA processing	nucleus	protein binding	g.chr17:47696432A>G	AJ000644	CCDS11551.1	17q21.33	2013-01-09			ENSG00000121067	ENSG00000121067		"BTB/POZ domain containing"	11254	protein-coding gene	gene with protein product		602650				9414087	Standard	NM_001007227		Approved	TEF2, BTBD32	uc002ipg.3	O43791	OTTHUMG00000161496	ENST00000393328.2:c.391T>C	17.37:g.47696432A>G	ENSP00000377001:p.Trp131Arg	Prostate(2;0.17)				SPOP_ENST00000347630.2_Missense_Mutation_p.W131R|SPOP_ENST00000504102.1_Missense_Mutation_p.W131R|SPOP_ENST00000503676.1_Missense_Mutation_p.W131R|SPOP_ENST00000393328.2_Missense_Mutation_p.W131R	p.W131R	NM_001007226.1|NM_001007227.1	NP_001007227.1|NP_001007228.1	O43791	SPOP_HUMAN			7	861	-			131			MATH.|Required for nuclear localization.		B2R6S3|D3DTW7|Q53HJ1	Missense_Mutation	SNP	ENST00000393328.2	37	c.391T>C	CCDS11551.1	.	.	.	.	.	.	.	.	.	.	A	19.83	3.899719	0.72754	.	.	ENSG00000121067	ENST00000393328;ENST00000393331;ENST00000347630;ENST00000504102;ENST00000503536;ENST00000503676;ENST00000513872;ENST00000509079;ENST00000505581;ENST00000507970;ENST00000514121	T;T;T;T;T;T;T;T;T	0.69306	-0.39;-0.39;-0.39;-0.39;-0.39;-0.39;-0.39;-0.39;-0.39	5.41	5.41	0.78517	TRAF-type (1);TRAF-like (1);MATH (3);	0.000000	0.85682	D	0.000000	T	0.76407	0.3983	L	0.47016	1.485	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	T	0.76321	-0.3002	10	0.45353	T	0.12	0.1404	15.258	0.73599	1.0:0.0:0.0:0.0	.	131	O43791	SPOP_HUMAN	R	131;131;131;131;15;131;84;131;131;131;131	ENSP00000377001:W131R;ENSP00000377004:W131R;ENSP00000240327:W131R;ENSP00000425905:W131R;ENSP00000420908:W131R;ENSP00000426986:W131R;ENSP00000420960:W131R;ENSP00000426262:W131R;ENSP00000424119:W131R	ENSP00000240327:W131R	W	-	1	0	SPOP	45051431	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.056000	0.93881	2.261000	0.74972	0.460000	0.39030	TGG		0.458	SPOP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365154.2	NM_003563		25	212	0	0	0	0.729181	0	25	212					G	47696432	A	G	47696432	3	3	75	1	0	0	0	0	1	0	0	0	15083	188	7	4	757	4	SPOP	17	47696432	Missense_Mutation	SNP	A	TCGA-EJ-5531-01A-01D-1576-08	8442419	47696432	33498778	45	3964											
ZNF519	162655	broad.mit.edu	37	chr18	14104994	14104994	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccacattctttacatttgaaAggtttctctccagtatgaat	11	16	5	9	0	2	2	0	2	2	0	4	2	3	2	2	1	1	2	2	1	4	6			TCGA-EJ-5531-01A-01D-1576-08	TCGA-EJ-5531-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729e845e-9b3f-47df-9400-07a81f3a5c12	85790f6e-85d7-4f6a-8784-4900d2364873	g.chr18:14104994A>C	ENST00000590202.1	-	3	1697	c.1545T>G	c.(1543-1545)ccT>ccG	p.P515P	RP11-411B10.3_ENST00000592926.1_RNA|ZNF519_ENST00000589498.1_Intron|ZNF519_ENST00000589203.1_Intron	NM_145287.3	NP_660330.2	Q8TB69	ZN519_HUMAN	zinc finger protein 519	515					negative regulation of transcription during meiosis (GO:0051038)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|urinary_tract(1)	18						TACATTTGAAAGGTTTCTCTC	0.373																																						ENST00000590202.1																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|urinary_tract(1)	18						c.(1543-1545)ccT>ccG		zinc finger protein 519							96	100	99					18																	14104994		2203	4300	6503	SO:0001819	synonymous_variant	162655				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr18:14104994A>C	BC024227	CCDS32797.1	18p11.21	2014-06-18			ENSG00000175322	ENSG00000175322		"Zinc fingers, C2H2-type", "-"	30574	protein-coding gene	gene with protein product	"similar to Zinc finger protein 85 (Zinc finger protein HPF4) (HTF1)"					12477932	Standard	NM_145287		Approved	HsT2362, FLJ36809	uc002kst.2	Q8TB69	OTTHUMG00000182055	ENST00000590202.1:c.1545T>G	18.37:g.14104994A>C						ZNF519_ENST00000589498.1_Intron|ZNF519_ENST00000589203.1_Intron|RP11-411B10.3_ENST00000592926.1_RNA	p.P515P	NM_145287.3	NP_660330.2	Q8TB69	ZN519_HUMAN			3	1697	-			515						Silent	SNP	ENST00000590202.1	37	c.1545T>G	CCDS32797.1																																																																																				0.373	ZNF519-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459037.1	NM_145287		11	142	0	0	0	0.38729	0	11	142					C	14104994	A	C	14104994	2	2	75	1	0	0	0	0	0	0	0	1	17961	59	3	5		5	ZNF519	18	14104994	Silent	SNP	A	TCGA-EJ-5531-01A-01D-1576-08		14104994	63972254	46	3965											
CCDC105	126402	broad.mit.edu	37	chr19	15121690	15121691	+	Frame_Shift_Del	DEL	CC	CC	-																															ccaggacacacgcgttggggCcccagcatggcgcgaggcag																								rs577782567	byFrequency	TCGA-EJ-5531-01A-01D-1576-08	TCGA-EJ-5531-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729e845e-9b3f-47df-9400-07a81f3a5c12	85790f6e-85d7-4f6a-8784-4900d2364873	g.chr19:15121690_15121691delCC	ENST00000292574.3	+	1	135_136	c.53_54delCC	c.(52-54)gccfs	p.A18fs	SLC1A6_ENST00000430939.2_5'Flank	NM_173482.2	NP_775753.2	Q8IYK2	CC105_HUMAN	coiled-coil domain containing 105	18						extracellular vesicular exosome (GO:0070062)				NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(4)|skin(2)	23						CGCGTTGGGGCCCCAGCATGGC	0.698														4	0.000798722	0	0.0043	5008	,	,		16937	0		0.001	False		,,,				2504	0					ENST00000292574.3																			0				NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(4)|skin(2)	23						c.(52-54)gfs		coiled-coil domain containing 105				13,4129		6,1,2064						2.8	0			9	28,8062		8,12,4025	no	frameshift	CCDC105	NM_173482.2		14,13,6089	A1A1,A1R,RR		0.3461,0.3139,0.3352				41,12191				SO:0001589	frameshift_variant	126402				microtubule cytoskeleton organization	microtubule		g.chr19:15121690_15121691delCC	AK097684	CCDS12322.1	19p13.12	2008-02-05				ENSG00000160994			26866	protein-coding gene	gene with protein product						12477932	Standard	NM_173482		Approved	FLJ40365	uc002nae.2	Q8IYK2		ENST00000292574.3:c.53_54delCC	19.37:g.15121692_15121693delCC	ENSP00000292574:p.Ala18fs						p.A18fs	NM_173482.2	NP_775753.2	Q8IYK2	CC105_HUMAN			1	135_136	+			18					Q8N7T5|Q8NDL5	Frame_Shift_Del	DEL	ENST00000292574.3	37	c.53_54delCC	CCDS12322.1																																																																																				0.698	CCDC105-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466293.1	NM_173482		5	2						5	2	---	---	---	---	-	15121691	CC	-	15121690	7	5	75	1	0	1	0	1	0	0	0	0	2740	739	26	0	55	0	CCDC105	19	15121690	Frame_Shift_Del	DEL	CC	TCGA-EJ-5531-01A-01D-1576-08		15121690	44007293	47	3966											
KIR3DL1	3811	broad.mit.edu	37	chr19	55341560	55341560	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttccctctctccaggactctGatgaacaagaccctgaggag	10	9	9	13	0	2	4	0	3	2	1	5	6	4	6	3	2	1	0	3	2	2	1			TCGA-EJ-5531-01A-01D-1576-08	TCGA-EJ-5531-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729e845e-9b3f-47df-9400-07a81f3a5c12	85790f6e-85d7-4f6a-8784-4900d2364873	g.chr19:55341560G>A	ENST00000391728.4	+	9	1198	c.1165G>A	c.(1165-1167)Gat>Aat	p.D389N	KIR3DL1_ENST00000358178.4_Missense_Mutation_p.D294N|KIR3DL1_ENST00000541392.1_Missense_Mutation_p.D372N|KIR3DL1_ENST00000538269.1_Missense_Mutation_p.D389N|KIR3DL1_ENST00000326542.7_Missense_Mutation_p.D372N|KIR2DS4_ENST00000339924.8_RNA|KIR3DL1_ENST00000402254.2_Intron	NM_013289.2	NP_037421.2	P43629	KI3L1_HUMAN	killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1	389					immune response (GO:0006955)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	HLA-B specific inhibitory MHC class I receptor activity (GO:0030109)	p.D389N(1)		breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	11				GBM - Glioblastoma multiforme(193;0.0192)		CCAGGACTCTGATGAACAAGA	0.527																																						ENST00000391728.4																			1	Substitution - Missense(1)	p.D389N(1)	prostate(1)	breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	11						c.(1165-1167)Gat>Aat		killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1							224	208	213					19																	55341560		2174	4163	6337	SO:0001583	missense	3811							g.chr19:55341560G>A	L41269	CCDS42621.1	19q13.4	2014-05-22			ENSG00000167633	ENSG00000167633		"Killer cell immunoglobulin-like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6338	protein-coding gene	gene with protein product		604946		KIR		7716543, 7749980	Standard	NM_013289		Approved	cl-2, NKB1, cl-11, nkat3, NKB1B, AMB11, CD158e1/2, CD158E1, CD158e2		P43629	OTTHUMG00000065933	ENST00000391728.4:c.1165G>A	19.37:g.55341560G>A	ENSP00000375608:p.Asp389Asn					KIR3DL1_ENST00000402254.2_Intron|KIR3DL1_ENST00000326542.7_Missense_Mutation_p.D372N|KIR3DL1_ENST00000541392.1_Missense_Mutation_p.D372N|KIR3DL1_ENST00000538269.1_Missense_Mutation_p.D389N|KIR3DL1_ENST00000358178.4_Missense_Mutation_p.D294N	p.D389N	NM_013289.2	NP_037421.2				GBM - Glioblastoma multiforme(193;0.0192)	9	1198	+								O43473|Q14946|Q16541	Missense_Mutation	SNP	ENST00000391728.4	37	c.1165G>A	CCDS42621.1	.	.	.	.	.	.	.	.	.	.	-	8.341	0.828689	0.16749	.	.	ENSG00000167633	ENST00000538269;ENST00000541392;ENST00000355608;ENST00000391728;ENST00000326542;ENST00000358178	T;T;T;T;T	0.00477	7.22;7.14;7.22;7.14;7.23	0.719	-0.49	0.12049	.	.	.	.	.	T	0.00967	0.0032	M	0.89478	3.035	0.09310	N	1	P;B;B	0.51537	0.946;0.302;0.066	P;B;B	0.53266	0.722;0.347;0.065	T	0.38415	-0.9662	8	0.87932	D	0	.	.	.	.	.	372;294;389	Q15702;Q14946;P43629	.;.;KI3L1_HUMAN	N	389;372;367;389;372;294	ENSP00000443350:D389N;ENSP00000442355:D372N;ENSP00000375608:D389N;ENSP00000326868:D372N;ENSP00000350901:D294N	ENSP00000326868:D372N	D	+	1	0	KIR3DL1	60033372	0.000000	0.05858	0.001000	0.08648	0.074000	0.17049	0.095000	0.15127	-0.128000	0.11641	0.184000	0.17185	GAT		0.527	KIR3DL1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000141238.1	NM_013289		68	361	0	0	0	0.870114	0	68	361					A	55341560	G	A	55341560	3	1	75	1	0	0	0	0	1	0	0	0	8320	1290	45	3	1199	3	KIR3DL1	19	55341560	Missense_Mutation	SNP	G	TCGA-EJ-5531-01A-01D-1576-08	40219870	55341560	3787423	48	3967											
EBP	10682	broad.mit.edu	37	chrX	48386620	48386620	+	Splice_Site	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttcccctcctgccacccacAggccagatctatggggatgt	7	9	9	16	0	1	1	0	0	1	1	3	2	3	2	6	3	1	0	6	3	1	2			TCGA-EJ-5531-01A-01D-1576-08	TCGA-EJ-5531-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729e845e-9b3f-47df-9400-07a81f3a5c12	85790f6e-85d7-4f6a-8784-4900d2364873	g.chrX:48386620A>T	ENST00000495186.1	+	5	1292		c.e5-1		EBP_ENST00000276096.6_Splice_Site	NM_006579.2	NP_006570.1	Q15125	EBP_HUMAN	emopamil binding protein (sterol isomerase)						cholesterol biosynthetic process (GO:0006695)|cholesterol metabolic process (GO:0008203)|drug transmembrane transport (GO:0006855)|hemopoiesis (GO:0030097)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)	C-8 sterol isomerase activity (GO:0000247)|cholestenol delta-isomerase activity (GO:0047750)|drug transmembrane transporter activity (GO:0015238)|steroid delta-isomerase activity (GO:0004769)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|endometrium(2)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|stomach(1)	11					Tamoxifen(DB00675)	TGCCACCCACAGGCCAGATCT	0.537																																					Ovarian(41;550 1000 33077 33474 52335)	ENST00000495186.1																			0				NS(1)|endometrium(2)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|stomach(1)	11						c.e5-1		emopamil binding protein (sterol isomerase)							66	46	53					X																	48386620		2203	4300	6503	SO:0001630	splice_region_variant	10682				cholesterol biosynthetic process|skeletal system development	endoplasmic reticulum membrane|integral to plasma membrane	cholestenol delta-isomerase activity|drug transmembrane transporter activity|steroid delta-isomerase activity|transmembrane receptor activity	g.chrX:48386620A>T	Z37986	CCDS14300.1	Xp11.23-p11.22	2013-05-22	2001-11-28		ENSG00000147155	ENSG00000147155			3133	protein-coding gene	gene with protein product	"3-beta-hydroxysteroid-delta-8,delta-7-isomerase", "Chondrodysplasia punctata-2, X-linked dominant (Happle syndrome)", "sterol 8-isomerase"	300205	"emopamil-binding protein (sterol isomerase)"	CDPX2		7706302, 8938429	Standard	NM_006579		Approved	CPX, CPXD, CHO2	uc004djx.4	Q15125	OTTHUMG00000034482	ENST00000495186.1:c.470-1A>T	X.37:g.48386620A>T						EBP_ENST00000276096.6_Splice_Site		NM_006579.2	NP_006570.1	Q15125	EBP_HUMAN			5	1292	+								Q6FGL3|Q6IBI9	Splice_Site	SNP	ENST00000495186.1	37		CCDS14300.1	.	.	.	.	.	.	.	.	.	.	A	11.38	1.621787	0.28889	.	.	ENSG00000147155	ENST00000495186;ENST00000446158	.	.	.	5.33	5.33	0.75918	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.2285	0.54474	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	EBP	48271564	1.000000	0.71417	0.971000	0.41717	0.034000	0.12701	8.081000	0.89511	1.792000	0.52537	0.427000	0.28365	.		0.537	EBP-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083372.1	NM_006579	Intron	3	14	0	0	0	0.115264	0	3	14					T	48386620	A	T	48386620	5	4	75	1	0	0	0	0	0	0	1	0	4886	202	7	5	482	5	EBP	23	48386620	Splice_Site	SNP	A	TCGA-EJ-5531-01A-01D-1576-08		48386620	106883940	49	3968											
SLC9A1	6548	broad.mit.edu	37	chr1	27480528	27480528	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggagatctcgaagggggtgcGcacgtgtgtgtagtcgatgc	7	9	18	7	4	1	1	0	0	1	1	3	4	1	1	0	3	2	2	0	3	2	1			TCGA-EJ-5532-01A-01D-1576-08	TCGA-EJ-5532-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64b492d0-73c0-4de0-bad1-5ef62275b035	d441d979-16c2-4638-a963-550f1bffd4e8	g.chr1:27480528G>A	ENST00000263980.3	-	1	873	c.298C>T	c.(298-300)Cgc>Tgc	p.R100C	SLC9A1_ENST00000545949.1_5'UTR|SLC9A1_ENST00000374086.3_Missense_Mutation_p.R100C	NM_003047.4	NP_003038.2	P19634	SL9A1_HUMAN	solute carrier family 9, subfamily A (NHE1, cation proton antiporter 1), member 1	100					carbohydrate metabolic process (GO:0005975)|cardiac muscle cell differentiation (GO:0055007)|cell growth (GO:0016049)|cellular response to acidic pH (GO:0071468)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan catabolic process (GO:0030214)|hyaluronan metabolic process (GO:0030212)|hydrogen ion transmembrane transport (GO:1902600)|ion transport (GO:0006811)|negative regulation of apoptotic process (GO:0043066)|neuron death (GO:0070997)|positive regulation of action potential (GO:0045760)|positive regulation of cell growth (GO:0030307)|positive regulation of mitochondrial membrane permeability (GO:0035794)|protein oligomerization (GO:0051259)|regulation of intracellular pH (GO:0051453)|regulation of pH (GO:0006885)|regulation of sensory perception of pain (GO:0051930)|regulation of the force of heart contraction (GO:0002026)|response to acidic pH (GO:0010447)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|sodium ion export (GO:0071436)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium-dependent protein binding (GO:0048306)|sodium:proton antiporter activity (GO:0015385)|solute:proton antiporter activity (GO:0015299)	p.R100C(1)		central_nervous_system(1)|cervix(3)|endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	27				UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;2.19e-50)|OV - Ovarian serous cystadenocarcinoma(117;1.8e-29)|Colorectal(126;7.61e-09)|COAD - Colon adenocarcinoma(152;9.32e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000521)|KIRC - Kidney renal clear cell carcinoma(1967;0.00079)|STAD - Stomach adenocarcinoma(196;0.00125)|READ - Rectum adenocarcinoma(331;0.046)	Amiloride(DB00594)	AAGGGGGTGCGCACGTGTGTG	0.592																																						ENST00000263980.3																			1	Substitution - Missense(1)	p.R100C(1)	prostate(1)	central_nervous_system(1)|cervix(3)|endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	27						c.(298-300)Cgc>Tgc		solute carrier family 9, subfamily A (NHE1, cation proton antiporter 1), member 1	Amiloride(DB00594)						95	100	98					1																	27480528		2203	4300	6503	SO:0001583	missense	6548				regulation of pH	integral to membrane	sodium:hydrogen antiporter activity	g.chr1:27480528G>A	M81768	CCDS295.1	1p36.1-p35	2014-06-13	2012-03-22		ENSG00000090020	ENSG00000090020		"Solute carriers"	11071	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 143"	107310	"solute carrier family 9 (sodium/hydrogen exchanger), isoform 1 (antiporter, Na+/H+, amiloride sensitive)", "solute carrier family 9 (sodium/hydrogen exchanger), member 1"	APNH, NHE1		8283968	Standard	NM_003047		Approved	PPP1R143	uc001bnm.4	P19634	OTTHUMG00000004271	ENST00000263980.3:c.298C>T	1.37:g.27480528G>A	ENSP00000263980:p.Arg100Cys					SLC9A1_ENST00000374086.3_Missense_Mutation_p.R100C|SLC9A1_ENST00000545949.1_5'UTR	p.R100C	NM_003047.4	NP_003038.2	P19634	SL9A1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;2.19e-50)|OV - Ovarian serous cystadenocarcinoma(117;1.8e-29)|Colorectal(126;7.61e-09)|COAD - Colon adenocarcinoma(152;9.32e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000521)|KIRC - Kidney renal clear cell carcinoma(1967;0.00079)|STAD - Stomach adenocarcinoma(196;0.00125)|READ - Rectum adenocarcinoma(331;0.046)	1	873	-			100					B1ALD6|D3DPL4|Q96EM2	Missense_Mutation	SNP	ENST00000263980.3	37	c.298C>T	CCDS295.1	.	.	.	.	.	.	.	.	.	.	G	24.6	4.550593	0.86127	.	.	ENSG00000090020	ENST00000263980;ENST00000374086;ENST00000374084	T;T;T	0.42900	0.96;0.96;0.96	4.9	4.9	0.64082	.	0.278543	0.34580	N	0.003853	T	0.50735	0.1633	L	0.36672	1.1	0.80722	D	1	D;D	0.89917	1.0;0.977	P;B	0.62298	0.9;0.339	T	0.52495	-0.8568	10	0.87932	D	0	.	13.452	0.61176	0.0:0.0:1.0:0.0	.	100;100	P19634-2;P19634	.;SL9A1_HUMAN	C	100	ENSP00000263980:R100C;ENSP00000363199:R100C;ENSP00000363197:R100C	ENSP00000263980:R100C	R	-	1	0	SLC9A1	27353115	1.000000	0.71417	0.992000	0.48379	0.934000	0.57294	5.672000	0.68102	2.564000	0.86499	0.655000	0.94253	CGC		0.592	SLC9A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012336.2	NM_003047		4	134	0	0	0	1	0	4	134					A	27480528	G	A	27480528	3	1	76	1	0	0	0	0	1	0	0	0	14709	1087	38	1	2197	1	SLC9A1	1	27480528	Missense_Mutation	SNP	G	TCGA-EJ-5532-01A-01D-1576-08		27480528	221770093	1	3969											
PUM1	9698	broad.mit.edu	37	chr1	31406163	31406163	+	Frame_Shift_Del	DEL	A	A	-																															tgcttgccataggtgtacttAcgaagagttgcgatgtgggg																										TCGA-EJ-5532-01A-01D-1576-08	TCGA-EJ-5532-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64b492d0-73c0-4de0-bad1-5ef62275b035	d441d979-16c2-4638-a963-550f1bffd4e8	g.chr1:31406163delA	ENST00000257075.5	-	22	3549	c.3456delT	c.(3454-3456)cgtfs	p.R1152fs	SNORD103A_ENST00000363284.1_RNA|PUM1_ENST00000440538.2_Frame_Shift_Del_p.R1128fs|PUM1_ENST00000373747.3_Frame_Shift_Del_p.R1155fs|PUM1_ENST00000423018.2_Frame_Shift_Del_p.R1010fs|PUM1_ENST00000426105.2_Frame_Shift_Del_p.R1154fs|PUM1_ENST00000373741.4_Frame_Shift_Del_p.R1190fs|PUM1_ENST00000424085.2_Frame_Shift_Del_p.R910fs|PUM1_ENST00000373742.2_Frame_Shift_Del_p.R1093fs	NM_014676.2	NP_055491.1	Q14671	PUM1_HUMAN	pumilio RNA-binding family member 1	1152	PUM-HD. {ECO:0000255|PROSITE- ProRule:PRU00318}.				membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of translation (GO:0006417)	cytosol (GO:0005829)	poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(17)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	48		Colorectal(325;0.0211)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0381)|Breast(348;0.0848)|Medulloblastoma(700;0.123)		STAD - Stomach adenocarcinoma(196;0.0232)|READ - Rectum adenocarcinoma(331;0.0681)		AGGTGTACTTACGAAGAGTTG	0.532																																						ENST00000373747.3																			0				breast(1)|central_nervous_system(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(17)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						c.(3463-3465)cgfs		pumilio RNA-binding family member 1							203	171	182					1																	31406163		2203	4300	6503	SO:0001589	frameshift_variant	9698				cellular membrane organization|post-Golgi vesicle-mediated transport|regulation of translation	cytosol	RNA binding	g.chr1:31406163delA	AF315592	CCDS338.1, CCDS44099.1	1p35.2	2013-09-02	2013-09-02		ENSG00000134644	ENSG00000134644			14957	protein-coding gene	gene with protein product		607204	"pumilio (Drosophila) homolog 1", "pumilio homolog 1 (Drosophila)"				Standard	NM_001020658		Approved	PUMH1, KIAA0099	uc001bsh.1	Q14671	OTTHUMG00000003795	ENST00000257075.5:c.3456delT	1.37:g.31406163delA	ENSP00000257075:p.Arg1152fs					PUM1_ENST00000440538.2_Frame_Shift_Del_p.R1128fs|PUM1_ENST00000257075.5_Frame_Shift_Del_p.R1152fs|PUM1_ENST00000426105.2_Frame_Shift_Del_p.R1154fs|PUM1_ENST00000424085.2_Frame_Shift_Del_p.R910fs|PUM1_ENST00000423018.2_Frame_Shift_Del_p.R1010fs|PUM1_ENST00000373741.4_Frame_Shift_Del_p.R1190fs|PUM1_ENST00000373742.2_Frame_Shift_Del_p.R1093fs	p.R1155fs	NM_001020658.1	NP_001018494.1	Q14671	PUM1_HUMAN		STAD - Stomach adenocarcinoma(196;0.0232)|READ - Rectum adenocarcinoma(331;0.0681)	22	3564	-		Colorectal(325;0.0211)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0381)|Breast(348;0.0848)|Medulloblastoma(700;0.123)	1152			PUM-HD.		A8K6W4|B4DG92|D3DPN3|E9PCJ0|Q53HH5|Q5VXY7|Q9HAN1	Frame_Shift_Del	DEL	ENST00000257075.5	37	c.3465delT	CCDS338.1																																																																																				0.532	PUM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000010671.1			68	165						68	165	---	---	---	---	-	31406163	A	-	31406163	7	5	76	1	0	1	0	1	0	0	0	0	12825	378	14	0	108	0	PUM1	1	31406163	Frame_Shift_Del	DEL	A	TCGA-EJ-5532-01A-01D-1576-08	3925635	31406163	217844458	2	3970											
FLG2	388698	broad.mit.edu	37	chr1	152329411	152329415	+	Frame_Shift_Del	DEL	TTGCT	TTGCT	-																															gccttccacacccacttgaaTtgctataaccacatgcatga																										TCGA-EJ-5532-01A-01D-1576-08	TCGA-EJ-5532-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64b492d0-73c0-4de0-bad1-5ef62275b035	d441d979-16c2-4638-a963-550f1bffd4e8	g.chr1:152329411_152329415delTTGCT	ENST00000388718.5	-	3	919_923	c.847_851delAGCAA	c.(847-852)agcaatfs	p.SN283fs	FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	283	Ser-rich.				establishment of skin barrier (GO:0061436)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCCACTTGAATTGCTATAACCACAT	0.429																																						ENST00000388718.5																			0				NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188						c.(847-852)tfs		filaggrin family member 2																																				SO:0001589	frameshift_variant	388698						calcium ion binding|structural molecule activity	g.chr1:152329411_152329415delTTGCT	AY827490	CCDS30861.1	1q21.3	2013-01-10			ENSG00000143520	ENSG00000143520		"EF-hand domain containing"	33276	protein-coding gene	gene with protein product						12477932	Standard	NM_001014342		Approved	IFPS	uc001ezw.4	Q5D862	OTTHUMG00000012245	ENST00000388718.5:c.847_851delAGCAA	1.37:g.152329411_152329415delTTGCT	ENSP00000373370:p.Ser283fs					FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	p.SN283fs	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	919_923	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		283			Ser-rich.		Q9H4U1	Frame_Shift_Del	DEL	ENST00000388718.5	37	c.847_851delAGCAA	CCDS30861.1																																																																																				0.429	FLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034018.5	NM_001014342		78	272						78	272	---	---	---	---	-	152329415	TTGCT	-	152329411	7	5	76	1	0	1	0	1	0	0	0	0	5923	1493	52	0	6328	0	FLG2	1	152329411	Frame_Shift_Del	DEL	TTGCT	TCGA-EJ-5532-01A-01D-1576-08	120923248	152329411	96921210	3	3971											
SPTA1	6708	broad.mit.edu	37	chr1	158626393	158626393	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttccgcagagctttcatactGtctccaaatgaattgagatc	11	13	7	10	1	2	3	1	2	1	2	5	4	3	3	2	0	2	2	2	0	3	4			TCGA-EJ-5532-01A-01D-1576-08	TCGA-EJ-5532-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64b492d0-73c0-4de0-bad1-5ef62275b035	d441d979-16c2-4638-a963-550f1bffd4e8	g.chr1:158626393G>C	ENST00000368147.4	-	20	3039	c.2859C>G	c.(2857-2859)gaC>gaG	p.D953E		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	953					actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)	p.D953E(1)		NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					CTTTCATACTGTCTCCAAATG	0.413																																						ENST00000368148.3																			1	Substitution - Missense(1)	p.D953E(1)	prostate(1)	NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307						c.(2857-2859)gaC>gaG		spectrin, alpha, erythrocytic 1 (elliptocytosis 2)							169	172	171					1																	158626393		1854	4088	5942	SO:0001583	missense	6708				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	g.chr1:158626393G>C	M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"EF-hand domain containing"	11272	protein-coding gene	gene with protein product	"elliptocytosis 2"	182860	"spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.2859C>G	1.37:g.158626393G>C	ENSP00000357129:p.Asp953Glu					SPTA1_ENST00000368147.3_Missense_Mutation_p.D953E	p.D953E	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN			20	3039	-	all_hematologic(112;0.0378)		953					Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Missense_Mutation	SNP	ENST00000368147.4	37	c.2859C>G	CCDS41423.1	.	.	.	.	.	.	.	.	.	.	G	13.62	2.292039	0.40594	.	.	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.64618	-0.11;-0.11	5.5	-0.31	0.12765	.	0.230977	0.22077	N	0.064944	T	0.12987	0.0315	N	0.11560	0.145	0.28159	N	0.929082	B	0.10296	0.003	B	0.19946	0.027	T	0.32719	-0.9896	10	0.08599	T	0.76	.	6.082	0.19946	0.1474:0.0:0.4682:0.3844	.	953	P02549	SPTA1_HUMAN	E	953	ENSP00000357130:D953E;ENSP00000357129:D953E	ENSP00000357129:D953E	D	-	3	2	SPTA1	156893017	0.999000	0.42202	0.874000	0.34290	0.622000	0.37654	0.345000	0.19979	-0.191000	0.10448	-0.274000	0.10170	GAC		0.413	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126		71	181	0	0	0	1	0	71	181					C	158626393	G	C	158626393	3	2	76	1	0	0	0	0	1	0	0	0	15115	1368	48	5	4532	5	SPTA1	1	158626393	Missense_Mutation	SNP	G	TCGA-EJ-5532-01A-01D-1576-08	6296982	158626393	90624228	4	3972											
ASTN1	460	broad.mit.edu	37	chr1	177001717	177001717	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagatggtggcgcagatcaGtgatgtcatactcatagccg	10	9	13	9	2	3	3	3	1	0	2	3	3	3	3	1	2	2	2	1	2	2	2			TCGA-EJ-5532-01A-01D-1576-08	TCGA-EJ-5532-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64b492d0-73c0-4de0-bad1-5ef62275b035	d441d979-16c2-4638-a963-550f1bffd4e8	g.chr1:177001717G>C	ENST00000367654.3	-	3	951	c.740C>G	c.(739-741)aCt>aGt	p.T247S	ASTN1_ENST00000361833.2_Missense_Mutation_p.T247S|ASTN1_ENST00000367657.3_Missense_Mutation_p.T247S|ASTN1_ENST00000281881.3_5'UTR|ASTN1_ENST00000424564.2_Missense_Mutation_p.T247S	NM_004319.1	NP_004310.1	O14525	ASTN1_HUMAN	astrotactin 1	247					locomotory behavior (GO:0007626)|neuron cell-cell adhesion (GO:0007158)|neuron migration (GO:0001764)	endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)		p.T247S(1)		NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						GCGCAGATCAGTGATGTCATA	0.622																																						ENST00000367654.2																			1	Substitution - Missense(1)	p.T247S(1)	prostate(1)	NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						c.(739-741)aCt>aGt		astrotactin 1							155	112	127					1																	177001717		2203	4300	6503	SO:0001583	missense	460				cell migration|neuron cell-cell adhesion	integral to membrane		g.chr1:177001717G>C	AB006627	CCDS1319.1, CCDS44280.1, CCDS65732.1	1q25.2	2008-02-05	2006-08-24	2006-08-24	ENSG00000152092	ENSG00000152092			773	protein-coding gene	gene with protein product		600904	"astrotactin"	ASTN		9070947	Standard	NM_001286164		Approved		uc001glc.3	O14525	OTTHUMG00000035041	ENST00000367654.3:c.740C>G	1.37:g.177001717G>C	ENSP00000356626:p.Thr247Ser					ASTN1_ENST00000424564.2_Missense_Mutation_p.T247S|ASTN1_ENST00000367657.3_Missense_Mutation_p.T247S|ASTN1_ENST00000281881.3_5'UTR|ASTN1_ENST00000361833.2_Missense_Mutation_p.T247S	p.T247S			O14525	ASTN1_HUMAN			3	753	-			247					A5PL12|B4DHI9|E9PFR8|O60799|Q5W0V7|Q5W0V8	Missense_Mutation	SNP	ENST00000367654.3	37	c.740C>G		.	.	.	.	.	.	.	.	.	.	G	18.06	3.538728	0.65085	.	.	ENSG00000152092	ENST00000367657;ENST00000361833;ENST00000367654;ENST00000424564;ENST00000541808	T;T;T;T	0.14516	2.5;2.91;2.91;2.5	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	T	0.25158	0.0611	N	0.24115	0.695	0.80722	D	1	D;D;D	0.71674	0.998;0.974;0.974	D;D;D	0.76071	0.987;0.969;0.969	T	0.03524	-1.1028	10	0.24483	T	0.36	-11.234	19.2616	0.93970	0.0:0.0:1.0:0.0	.	247;247;247	O14525;O14525-2;B1AJS1	ASTN1_HUMAN;.;.	S	247	ENSP00000356629:T247S;ENSP00000354536:T247S;ENSP00000356626:T247S;ENSP00000395041:T247S	ENSP00000354536:T247S	T	-	2	0	ASTN1	175268340	1.000000	0.71417	0.957000	0.39632	0.979000	0.70002	9.021000	0.93673	2.614000	0.88457	0.655000	0.94253	ACT		0.622	ASTN1-201	KNOWN	basic	protein_coding	protein_coding		NM_004319		18	106	0	0	0	1	0	18	106					C	177001717	G	C	177001717	3	2	76	1	0	0	0	0	1	0	0	0	1064	1029	36	5	3232	5	ASTN1	1	177001717	Missense_Mutation	SNP	G	TCGA-EJ-5532-01A-01D-1576-08	18375324	177001717	72248904	5	3973											
USH2A	7399	broad.mit.edu	37	chr1	216371806	216371806	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttaatgcattttcattggccGattctacaaatgaatgagga	13	14	8	6	1	2	2	1	2	1	0	2	4	2	3	1	2	2	1	1	2	4	6	rs79279902		TCGA-EJ-5532-01A-01D-1576-08	TCGA-EJ-5532-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64b492d0-73c0-4de0-bad1-5ef62275b035	d441d979-16c2-4638-a963-550f1bffd4e8	g.chr1:216371806G>A	ENST00000307340.3	-	18	4318	c.3932C>T	c.(3931-3933)tCg>tTg	p.S1311L	USH2A_ENST00000366942.3_Missense_Mutation_p.S1311L|RP5-1099E6.3_ENST00000420867.1_RNA|USH2A_ENST00000366943.2_Missense_Mutation_p.S1311L	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	1311	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)	p.S1311L(1)		NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TTCATTGGCCGATTCTACAAA	0.413										HNSCC(13;0.011)																												ENST00000366943.2																			1	Substitution - Missense(1)	p.S1311L(1)	prostate(1)	NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527	GRCh37	CM080597	USH2A	M	rs79279902	c.(3931-3933)tCg>tTg		Usher syndrome 2A (autosomal recessive, mild)							138	128	131					1																	216371806		2203	4300	6503	SO:0001583	missense	7399				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	g.chr1:216371806G>A	AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"Fibronectin type III domain containing"	12601	protein-coding gene	gene with protein product	"usherin"	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.3932C>T	1.37:g.216371806G>A	ENSP00000305941:p.Ser1311Leu	HNSCC(13;0.011)				RP5-1099E6.3_ENST00000420867.1_RNA|USH2A_ENST00000366942.3_Missense_Mutation_p.S1311L|USH2A_ENST00000307340.3_Missense_Mutation_p.S1311L	p.S1311L			O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	18	4318	-			1311			Fibronectin type-III 3.		Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	c.3932C>T	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	G	25.4	4.633313	0.87660	.	.	ENSG00000042781	ENST00000307340;ENST00000366943;ENST00000366942	T;T;T	0.57436	0.4;0.4;0.4	5.69	4.78	0.61160	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.38111	N	0.001814	T	0.68778	0.3038	M	0.83603	2.65	0.46927	D	0.999253	D;D	0.64830	0.994;0.994	P;P	0.57371	0.765;0.819	T	0.70525	-0.4848	10	0.31617	T	0.26	.	14.5332	0.67942	0.0704:0.0:0.9296:0.0	.	1311;1311	O75445-2;O75445	.;USH2A_HUMAN	L	1311	ENSP00000305941:S1311L;ENSP00000355910:S1311L;ENSP00000355909:S1311L	ENSP00000305941:S1311L	S	-	2	0	USH2A	214438429	1.000000	0.71417	0.154000	0.22540	0.871000	0.50021	4.141000	0.58038	1.399000	0.46721	0.650000	0.86243	TCG		0.413	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		53	121	0	0	0	1	0	53	121					A	216371806	G	A	216371806	3	1	76	1	0	0	0	0	1	0	0	0	17033	1059	37	2	11910	2	USH2A	1	216371806	Missense_Mutation	SNP	G	TCGA-EJ-5532-01A-01D-1576-08	39370089	216371806	32878815	6	3974											
FMN2	56776	broad.mit.edu	37	chr1	240371601	240371601	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cttcccggagcgggcataccCccacctccccctctacccgg	5	6	8	22	3	1	0	0	0	1	0	3	1	3	1	7	3	3	1	7	3	2	3			TCGA-EJ-5532-01A-01D-1576-08	TCGA-EJ-5532-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64b492d0-73c0-4de0-bad1-5ef62275b035	d441d979-16c2-4638-a963-550f1bffd4e8	g.chr1:240371601C>T	ENST00000319653.9	+	5	3719	c.3489C>T	c.(3487-3489)ccC>ccT	p.P1163P		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	1163	FH1.|Pro-rich.				cellular response to DNA damage stimulus (GO:0006974)|cellular response to hypoxia (GO:0071456)|establishment of meiotic spindle localization (GO:0051295)|formin-nucleated actin cable assembly (GO:0070649)|homologous chromosome movement towards spindle pole involved in homologous chromosome segregation (GO:0051758)|intracellular signal transduction (GO:0035556)|intracellular transport (GO:0046907)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein catabolic process (GO:0042177)|oogenesis (GO:0048477)|polar body extrusion after meiotic divisions (GO:0040038)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cell cortex (GO:0005938)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|microvillus (GO:0005902)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|spindle (GO:0005819)	actin binding (GO:0003779)	p.P1306P(1)		NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			CGGGCATACCCCCACCTCCCC	0.692																																						ENST00000319653.9																			1	Substitution - coding silent(1)	p.P1306P(1)	prostate(1)	NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178						c.(3487-3489)ccC>ccT		formin 2							4	5	4					1																	240371601		1915	3859	5774	SO:0001819	synonymous_variant	56776				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding	g.chr1:240371601C>T	AF218942	CCDS31069.2	1q43	2008-02-05			ENSG00000155816	ENSG00000155816			14074	protein-coding gene	gene with protein product		606373				10781961	Standard	NM_020066		Approved		uc010pyd.2	Q9NZ56	OTTHUMG00000039883	ENST00000319653.9:c.3489C>T	1.37:g.240371601C>T							p.P1163P	NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0106)		5	3719	+	Ovarian(103;0.127)	all_cancers(173;0.013)	1163			FH1.|Pro-rich.		B0QZA7|B4DP05|Q59GF6|Q5VU37|Q9NZ55	Silent	SNP	ENST00000319653.9	37	c.3489C>T	CCDS31069.2																																																																																				0.692	FMN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096217.2	XM_371352		2	1	0	0	0	1	0	2	1					T	240371601	C	T	240371601	2	4	76	1	0	0	0	0	0	0	0	1	5950	610	22	3		3	FMN2	1	240371601	Silent	SNP	C	TCGA-EJ-5532-01A-01D-1576-08	23999795	240371601	8879020	7	3975											
TFB2M	64216	broad.mit.edu	37	chr1	246729332	246729332	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cccacagtggttcctcgccgGcaaatgctttcgcgtcgccg	5	9	11	16	6	0	0	0	0	0	0	4	0	1	0	4	2	1	3	4	2	1	2			TCGA-EJ-5532-01A-01D-1576-08	TCGA-EJ-5532-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64b492d0-73c0-4de0-bad1-5ef62275b035	d441d979-16c2-4638-a963-550f1bffd4e8	g.chr1:246729332G>A	ENST00000366514.4	-	1	294	c.109C>T	c.(109-111)Ccg>Tcg	p.P37S	CNST_ENST00000366512.3_5'Flank|TFB2M_ENST00000544618.1_Missense_Mutation_p.P37S|CNST_ENST00000366513.4_5'Flank	NM_022366.2	NP_071761.1	Q9H5Q4	TFB2M_HUMAN	transcription factor B2, mitochondrial	37					gene expression (GO:0010467)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from mitochondrial promoter (GO:0006390)|transcription initiation from mitochondrial promoter (GO:0006391)	mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)	poly(A) RNA binding (GO:0044822)|rRNA (adenine-N6,N6-)-dimethyltransferase activity (GO:0000179)|transcription cofactor activity (GO:0003712)	p.P37S(1)		breast(1)|endometrium(1)|kidney(12)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	28	all_cancers(71;4.25e-05)|all_epithelial(71;4.92e-06)|Ovarian(71;0.0254)|all_lung(81;0.0272)|Breast(184;0.0318)|Lung NSC(105;0.0376)		OV - Ovarian serous cystadenocarcinoma(106;0.00358)			TTCCTCGCCGGCAAATGCTTT	0.627																																						ENST00000366514.4																			1	Substitution - Missense(1)	p.P37S(1)	prostate(1)	breast(1)|endometrium(1)|kidney(12)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	28						c.(109-111)Ccg>Tcg		transcription factor B2, mitochondrial							46	52	50					1																	246729332		2203	4300	6503	SO:0001583	missense	64216				positive regulation of transcription, DNA-dependent|transcription initiation from mitochondrial promoter	mitochondrial nucleoid	protein binding|rRNA (adenine-N6,N6-)-dimethyltransferase activity|transcription cofactor activity	g.chr1:246729332G>A	AK026835	CCDS1627.1	1q44	2008-02-05			ENSG00000162851	ENSG00000162851			18559	protein-coding gene	gene with protein product		607055					Standard	NM_022366		Approved	FLJ23182, FLJ22661, Hkp1	uc001ibn.3	Q9H5Q4	OTTHUMG00000040091	ENST00000366514.4:c.109C>T	1.37:g.246729332G>A	ENSP00000355471:p.Pro37Ser					TFB2M_ENST00000544618.1_Missense_Mutation_p.P37S	p.P37S	NM_022366.2	NP_071761.1	Q9H5Q4	TFB2M_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00358)		1	294	-	all_cancers(71;4.25e-05)|all_epithelial(71;4.92e-06)|Ovarian(71;0.0254)|all_lung(81;0.0272)|Breast(184;0.0318)|Lung NSC(105;0.0376)		37					Q9H626	Missense_Mutation	SNP	ENST00000366514.4	37	c.109C>T	CCDS1627.1	.	.	.	.	.	.	.	.	.	.	G	11.14	1.549825	0.27652	.	.	ENSG00000162851	ENST00000366514;ENST00000544618	T	0.29142	1.58	3.92	-2.16	0.07080	.	1.010880	0.07950	N	0.980702	T	0.17152	0.0412	N	0.19112	0.55	0.09310	N	1	B	0.15141	0.012	B	0.09377	0.004	T	0.28870	-1.0030	10	0.29301	T	0.29	0.4463	7.2537	0.26164	0.1764:0.3447:0.4789:0.0	.	37	Q9H5Q4	TFB2M_HUMAN	S	37	ENSP00000355471:P37S	ENSP00000355471:P37S	P	-	1	0	TFB2M	244795955	0.000000	0.05858	0.000000	0.03702	0.090000	0.18270	-0.118000	0.10692	-0.390000	0.07774	0.462000	0.41574	CCG		0.627	TFB2M-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096673.1	NM_022366		4	101	0	0	0	1	0	4	101					A	246729332	G	A	246729332	3	1	76	1	0	0	0	0	1	0	0	0	15791	1203	42	3	1113	3	TFB2M	1	246729332	Missense_Mutation	SNP	G	TCGA-EJ-5532-01A-01D-1576-08	6357731	246729332	2521289	8	3976											
CAD	790	broad.mit.edu	37	chr2	27457443	27457443	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tctctcgctccttccccttcGtttccaagacactgggtgtg	4	14	8	15	2	1	1	0	0	1	1	7	1	4	1	4	1	0	2	4	1	1	3			TCGA-EJ-5532-01A-01D-1576-08	TCGA-EJ-5532-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64b492d0-73c0-4de0-bad1-5ef62275b035	d441d979-16c2-4638-a963-550f1bffd4e8	g.chr2:27457443G>A	ENST00000403525.1	+	22	3631	c.3487G>A	c.(3487-3489)Gtt>Att	p.V1163I	CAD_ENST00000264705.4_Missense_Mutation_p.V1226I			O76075	DFFB_HUMAN	carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase	0					apoptotic chromosome condensation (GO:0030263)|apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|brain development (GO:0007420)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)	cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	deoxyribonuclease activity (GO:0004536)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)	p.V1226I(2)		NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTTCCCCTTCGTTTCCAAGAC	0.552																																						ENST00000264705.4																			2	Substitution - Missense(2)	p.V1226I(2)	prostate(2)	NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92						c.(3676-3678)Gtt>Att		carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase	L-Aspartic Acid(DB00128)|L-Glutamine(DB00130)						211	185	194					2																	27457443		2203	4300	6503	SO:0001583	missense	790				'de novo' pyrimidine base biosynthetic process|drug metabolic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process	cytosol|neuronal cell body|nuclear matrix|terminal button	aspartate binding|aspartate carbamoyltransferase activity|ATP binding|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|identical protein binding|metal ion binding|protein kinase activity	g.chr2:27457443G>A	D78586	CCDS1742.1	2p22-p21	2012-10-02			ENSG00000084774	ENSG00000084774	2.1.3.2, 3.5.2.-		1424	protein-coding gene	gene with protein product		114010				8619816, 2565865	Standard	NM_004341		Approved		uc002rji.3	P27708	OTTHUMG00000097070	ENST00000403525.1:c.3487G>A	2.37:g.27457443G>A	ENSP00000384510:p.Val1163Ile					CAD_ENST00000403525.1_Missense_Mutation_p.V1163I	p.V1226I	NM_004341.3	NP_004332.2	P27708	PYR1_HUMAN			23	3838	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		1226			ATP-grasp 2.|CPSase (Carbamoyl-phosphate synthase).|CPSase B.		O60521|Q5SR22|Q9BYI4|Q9BYI5|Q9BYI6	Missense_Mutation	SNP	ENST00000403525.1	37	c.3676G>A		.	.	.	.	.	.	.	.	.	.	G	18.29	3.591398	0.66219	.	.	ENSG00000084774	ENST00000264705;ENST00000403525	D;D	0.97016	-4.21;-4.21	5.55	5.55	0.83447	ATP-grasp fold (1);ATP-grasp fold, subdomain 2 (1);Carbamoyl-phosphate synthetase, large subunit, ATP-binding (1);	0.051300	0.85682	D	0.000000	D	0.94321	0.8175	L	0.46567	1.45	0.80722	D	1	P;P	0.38504	0.489;0.634	B;B	0.36030	0.216;0.143	D	0.93928	0.7212	10	0.46703	T	0.11	0.1882	18.424	0.90602	0.0:0.0:1.0:0.0	.	1163;1226	F8VPD4;P27708	.;PYR1_HUMAN	I	1226;1163	ENSP00000264705:V1226I;ENSP00000384510:V1163I	ENSP00000264705:V1226I	V	+	1	0	CAD	27310947	1.000000	0.71417	1.000000	0.80357	0.823000	0.46562	7.263000	0.78421	2.767000	0.95098	0.655000	0.94253	GTT		0.552	CAD-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000324970.1			48	99	0	0	0	1	0	48	99					A	27457443	G	A	27457443	3	1	76	1	0	0	0	0	1	0	0	0	2565	1145	40	1	3766	1	CAD	2	27457443	Missense_Mutation	SNP	G	TCGA-EJ-5532-01A-01D-1576-08		27457443	215741930	9	3977											
SLC6A11	6538	broad.mit.edu	37	chr3	10967711	10967711	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccccggcctggcctttattgCgtaccccaaggcggtcacca	6	8	10	17	3	1	0	1	0	0	0	1	0	1	0	7	4	2	1	7	4	3	4			TCGA-EJ-5532-01A-01D-1576-08	TCGA-EJ-5532-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64b492d0-73c0-4de0-bad1-5ef62275b035	d441d979-16c2-4638-a963-550f1bffd4e8	g.chr3:10967711C>T	ENST00000254488.2	+	9	1208	c.1142C>T	c.(1141-1143)gCg>gTg	p.A381V		NM_014229.1	NP_055044.1	P48066	S6A11_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 11	381					brain development (GO:0007420)|neurotransmitter secretion (GO:0007269)|response to drug (GO:0042493)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	gamma-aminobutyric acid:sodium symporter activity (GO:0005332)|neurotransmitter binding (GO:0042165)|neurotransmitter:sodium symporter activity (GO:0005328)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(13)|ovary(1)|skin(4)	35				OV - Ovarian serous cystadenocarcinoma(96;0.229)	Clobazam(DB00349)	GCCTTTATTGCGTACCCCAAG	0.567																																						ENST00000254488.2																			0				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(13)|ovary(1)|skin(4)	35						c.(1141-1143)gCg>gTg		solute carrier family 6 (neurotransmitter transporter), member 11							238	247	244					3																	10967711		2203	4300	6503	SO:0001583	missense	6538				neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity	g.chr3:10967711C>T	S75989	CCDS2602.1	3p25.3	2013-07-19	2013-07-19		ENSG00000132164	ENSG00000132164		"Solute carriers"	11044	protein-coding gene	gene with protein product	"GABA transporter 3"	607952	"solute carrier family 6 (neurotransmitter transporter, GABA), member 11"			7874447	Standard	NM_014229		Approved	GAT3	uc003bvz.3	P48066	OTTHUMG00000129718	ENST00000254488.2:c.1142C>T	3.37:g.10967711C>T	ENSP00000254488:p.Ala381Val						p.A381V	NM_014229.1	NP_055044.1	P48066	S6A11_HUMAN		OV - Ovarian serous cystadenocarcinoma(96;0.229)	9	1208	+			381					B2R6U6|Q8IYC9	Missense_Mutation	SNP	ENST00000254488.2	37	c.1142C>T	CCDS2602.1	.	.	.	.	.	.	.	.	.	.	C	33	5.228062	0.95173	.	.	ENSG00000132164	ENST00000254488	T	0.73789	-0.78	5.19	5.19	0.71726	.	0.000000	0.85682	D	0.000000	T	0.78916	0.4359	L	0.36672	1.1	0.80722	D	1	D	0.55172	0.97	P	0.60949	0.881	T	0.75622	-0.3254	10	0.27082	T	0.32	.	18.7333	0.91744	0.0:1.0:0.0:0.0	.	381	P48066	S6A11_HUMAN	V	381	ENSP00000254488:A381V	ENSP00000254488:A381V	A	+	2	0	SLC6A11	10942711	1.000000	0.71417	0.954000	0.39281	0.929000	0.56500	7.639000	0.83342	2.419000	0.82065	0.561000	0.74099	GCG		0.567	SLC6A11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251927.1	NM_014229		6	473	0	0	0	1	0	6	473					T	10967711	C	T	10967711	3	4	76	1	0	0	0	0	1	0	0	0	14674	768	27	1	1176	1	SLC6A11	3	10967711	Missense_Mutation	SNP	C	TCGA-EJ-5532-01A-01D-1576-08		10967711	187054719	10	3978											
UQCRC1	7384	broad.mit.edu	37	chr3	48638151	48638151	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aacatcatgtcatcgattttCattcggtcacagacaaagtg	13	12	7	9	2	4	1	4	0	0	1	6	2	4	1	0	1	1	0	0	1	2	3			TCGA-EJ-5532-01A-01D-1576-08	TCGA-EJ-5532-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64b492d0-73c0-4de0-bad1-5ef62275b035	d441d979-16c2-4638-a963-550f1bffd4e8	g.chr3:48638151C>T	ENST00000203407.5	-	9	1505	c.1089G>A	c.(1087-1089)atG>atA	p.M363I		NM_003365.2	NP_003356.2	P31930	QCR1_HUMAN	ubiquinol-cytochrome c reductase core protein I	363					aerobic respiration (GO:0009060)|cellular metabolic process (GO:0044237)|hydrogen ion transmembrane transport (GO:1902600)|mitochondrial electron transport, ubiquinol to cytochrome c (GO:0006122)|oxidation-reduction process (GO:0055114)|oxidative phosphorylation (GO:0006119)|respiratory electron transport chain (GO:0022904)|response to activity (GO:0014823)|response to alkaloid (GO:0043279)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain (GO:0005746)|mitochondrial respiratory chain complex III (GO:0005750)|mitochondrion (GO:0005739)	metal ion binding (GO:0046872)|ubiquinol-cytochrome-c reductase activity (GO:0008121)	p.M363I(1)		breast(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(1)	16				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		CATCGATTTTCATTCGGTCAC	0.542																																					NSCLC(81;1112 1427 27031 32409 45529)	ENST00000203407.5																			1	Substitution - Missense(1)	p.M363I(1)	prostate(1)	breast(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(1)	16						c.(1087-1089)atG>atA		ubiquinol-cytochrome c reductase core protein I	Atovaquone(DB01117)						111	98	102					3																	48638151		2203	4300	6503	SO:0001583	missense	7384				aerobic respiration|proteolysis		metalloendopeptidase activity|ubiquinol-cytochrome-c reductase activity|zinc ion binding	g.chr3:48638151C>T	BC009586	CCDS2774.1	3p21	2011-07-04			ENSG00000010256	ENSG00000010256	1.10.2.2	"Mitochondrial respiratory chain complex / Complex III"	12585	protein-coding gene	gene with protein product		191328				8407948	Standard	NM_003365		Approved	D3S3191, QCR1, UQCR1	uc003cub.1	P31930	OTTHUMG00000133539	ENST00000203407.5:c.1089G>A	3.37:g.48638151C>T	ENSP00000203407:p.Met363Ile						p.M363I	NM_003365.2	NP_003356.2	P31930	QCR1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)	9	1505	-			363					B2R7R8|Q96DD2	Missense_Mutation	SNP	ENST00000203407.5	37	c.1089G>A	CCDS2774.1	.	.	.	.	.	.	.	.	.	.	C	12.08	1.830253	0.32329	.	.	ENSG00000010256	ENST00000203407	T	0.28895	1.59	5.72	5.72	0.89469	Peptidase M16, C-terminal (1);Peptidase M16, core (1);Metalloenzyme, LuxS/M16 peptidase-like, metal-binding (1);	0.180517	0.64402	D	0.000015	T	0.31949	0.0813	L	0.53617	1.68	0.31040	N	0.71647	B;B	0.16603	0.01;0.018	B;B	0.21360	0.034;0.008	T	0.17806	-1.0357	10	0.33141	T	0.24	-44.8454	15.3694	0.74551	0.0:0.8611:0.1389:0.0	.	248;363	B4DUL5;P31930	.;QCR1_HUMAN	I	363	ENSP00000203407:M363I	ENSP00000203407:M363I	M	-	3	0	UQCRC1	48613155	0.989000	0.36119	0.874000	0.34290	0.851000	0.48451	2.474000	0.45154	2.709000	0.92574	0.561000	0.74099	ATG		0.542	UQCRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257517.1	NM_003365		14	92	0	0	0	1	0	14	92					T	48638151	C	T	48638151	3	4	76	1	0	0	0	0	1	0	0	0	17016	826	29	3	373	3	UQCRC1	3	48638151	Missense_Mutation	SNP	C	TCGA-EJ-5532-01A-01D-1576-08	37670440	48638151	149384279	11	3979											
GZMA	3001	broad.mit.edu	37	chr5	54405924	54405924	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttggccttgaaaataaatgcGgagaccctcgtgggcctggt	9	10	13	9	2	0	2	0	1	0	1	1	3	0	2	3	4	1	0	3	4	4	3	rs374808018		TCGA-EJ-5532-01A-01D-1576-08	TCGA-EJ-5532-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64b492d0-73c0-4de0-bad1-5ef62275b035	d441d979-16c2-4638-a963-550f1bffd4e8	g.chr5:54405924G>A	ENST00000274306.6	+	5	738	c.703G>A	c.(703-705)Gga>Aga	p.G235R		NM_006144.3	NP_006135	P12544	GRAA_HUMAN	granzyme A (granzyme 1, cytotoxic T-lymphocyte-associated serine esterase 3)	235	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				apoptotic process (GO:0006915)|cytolysis (GO:0019835)|immune response (GO:0006955)|negative regulation of DNA binding (GO:0043392)|negative regulation of endodeoxyribonuclease activity (GO:0032078)|negative regulation of oxidoreductase activity (GO:0051354)|positive regulation of apoptotic process (GO:0043065)|proteolysis involved in cellular protein catabolic process (GO:0051603)	extracellular region (GO:0005576)|immunological synapse (GO:0001772)|nucleus (GO:0005634)	protein homodimerization activity (GO:0042803)|serine-type endopeptidase activity (GO:0004252)	p.G235R(1)		NS(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	25		Lung NSC(810;4.08e-05)|Breast(144;0.0433)|Prostate(74;0.183)				AAATAAATGCGGAGACCCTCG	0.468																																						ENST00000274306.6																			1	Substitution - Missense(1)	p.G235R(1)	prostate(1)	NS(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	25						c.(703-705)Gga>Aga		granzyme A (granzyme 1, cytotoxic T-lymphocyte-associated serine esterase 3)		G	ARG/GLY	0,4406		0,0,2203	98	98	98		703	5.5	0.3	5		98	1,8599	1.2+/-3.3	0,1,4299	no	missense	GZMA	NM_006144.3	125	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	235/263	54405924	1,13005	2203	4300	6503	SO:0001583	missense	3001				cleavage of lamin|cytolysis|immune response|negative regulation of DNA binding|negative regulation of endodeoxyribonuclease activity|negative regulation of oxidoreductase activity|positive regulation of apoptosis	extracellular region|immunological synapse|nucleus	protein homodimerization activity|serine-type endopeptidase activity	g.chr5:54405924G>A		CCDS3965.1	5q11-q12	2008-07-18			ENSG00000145649	ENSG00000145649			4708	protein-coding gene	gene with protein product	"CTL tryptase", "Granzyme A (Cytotoxic T-lymphocyte-associated serine esterase-3; Hanukah factor serine protease)"	140050		HFSP, CTLA3		3262682, 3533635	Standard	NM_006144		Approved		uc003jpm.3	P12544	OTTHUMG00000097011	ENST00000274306.6:c.703G>A	5.37:g.54405924G>A	ENSP00000274306:p.Gly235Arg						p.G235R	NM_006144.3	NP_006135.1	P12544	GRAA_HUMAN			5	738	+		Lung NSC(810;4.08e-05)|Breast(144;0.0433)|Prostate(74;0.183)	235			Peptidase S1.		A4PHN1|Q6IB36	Missense_Mutation	SNP	ENST00000274306.6	37	c.703G>A	CCDS3965.1	.	.	.	.	.	.	.	.	.	.	G	18.31	3.595708	0.66219	0.0	1.16E-4	ENSG00000145649	ENST00000274306	D	0.89196	-2.48	5.52	5.52	0.82312	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.85682	D	0.000000	D	0.95802	0.8634	M	0.93420	3.415	0.34342	D	0.688909	D	0.89917	1.0	D	0.91635	0.999	D	0.99537	1.0962	10	0.87932	D	0	.	15.1806	0.72956	0.0:0.0:0.8586:0.1414	.	235	P12544	GRAA_HUMAN	R	235	ENSP00000274306:G235R	ENSP00000274306:G235R	G	+	1	0	GZMA	54441681	1.000000	0.71417	0.324000	0.25361	0.050000	0.14768	5.639000	0.67868	2.873000	0.98535	0.563000	0.77884	GGA		0.468	GZMA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214100.2	NM_006144		35	106	0	0	0	1	0	35	106					A	54405924	G	A	54405924	3	1	76	1	0	0	0	0	1	0	0	0	6915	1117	39	2	721	2	GZMA	5	54405924	Missense_Mutation	SNP	G	TCGA-EJ-5532-01A-01D-1576-08		54405924	126509336	12	3980											
PPARGC1B	133522	broad.mit.edu	37	chr5	149212486	149212486	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccccggtttcccaggaagacAtgcaggcgatggtgcaactc	9	7	12	13	2	0	1	0	0	0	1	2	3	1	2	3	4	3	3	3	4	2	1			TCGA-EJ-5532-01A-01D-1576-08	TCGA-EJ-5532-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64b492d0-73c0-4de0-bad1-5ef62275b035	d441d979-16c2-4638-a963-550f1bffd4e8	g.chr5:149212486A>T	ENST00000309241.5	+	5	882	c.850A>T	c.(850-852)Atg>Ttg	p.M284L	PPARGC1B_ENST00000360453.4_Missense_Mutation_p.M245L|PPARGC1B_ENST00000403750.1_Missense_Mutation_p.M220L|PPARGC1B_ENST00000394320.3_Missense_Mutation_p.M284L	NM_133263.3	NP_573570.3	Q86YN6	PRGC2_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator 1 beta	284					actin filament organization (GO:0007015)|bone trabecula formation (GO:0060346)|cellular lipid metabolic process (GO:0044255)|cellular response to reactive oxygen species (GO:0034614)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of transcription, DNA-templated (GO:0045892)|ossification (GO:0001503)|positive regulation of alkaline phosphatase activity (GO:0010694)|positive regulation of bone resorption (GO:0045780)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of phosphorylation (GO:0042327)|positive regulation of receptor activity (GO:2000273)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to cAMP (GO:0051591)|response to glucocorticoid (GO:0051384)|small molecule metabolic process (GO:0044281)|transcription from mitochondrial promoter (GO:0006390)|transcription from RNA polymerase II promoter (GO:0006366)	mediator complex (GO:0016592)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	AF-2 domain binding (GO:0050682)|estrogen receptor binding (GO:0030331)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nucleotide binding (GO:0000166)|receptor activator activity (GO:0030546)|RNA binding (GO:0003723)|RNA polymerase II transcription cofactor activity (GO:0001104)	p.M284L(2)		NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(2)|lung(15)|ovary(3)|prostate(2)|stomach(1)	30			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			CCAGGAAGACATGCAGGCGAT	0.672																																						ENST00000309241.5																			2	Substitution - Missense(2)	p.M284L(2)	prostate(2)	NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(2)|lung(15)|ovary(3)|prostate(2)|stomach(1)	30						c.(850-852)Atg>Ttg		peroxisome proliferator-activated receptor gamma, coactivator 1 beta							47	57	53					5																	149212486		2203	4300	6503	SO:0001583	missense	133522				estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter	mediator complex	AF-2 domain binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|receptor activator activity|RNA binding|RNA polymerase II transcription cofactor activity	g.chr5:149212486A>T	AF468496	CCDS4298.1, CCDS54933.1, CCDS54934.1	5q33.1	2013-02-12	2006-10-17		ENSG00000155846	ENSG00000155846		"RNA binding motif (RRM) containing"	30022	protein-coding gene	gene with protein product		608886	"peroxisome proliferative activated receptor, gamma, coactivator 1, beta"			11793024, 11854298	Standard	NM_133263		Approved	PERC, PGC1B	uc003lrc.3	Q86YN6	OTTHUMG00000130055	ENST00000309241.5:c.850A>T	5.37:g.149212486A>T	ENSP00000312649:p.Met284Leu					PPARGC1B_ENST00000403750.1_Missense_Mutation_p.M220L|PPARGC1B_ENST00000394320.3_Missense_Mutation_p.M284L|PPARGC1B_ENST00000360453.4_Missense_Mutation_p.M245L	p.M284L	NM_133263.3	NP_573570.3	Q86YN6	PRGC2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		5	882	+			284					A2RUM8|A2RUN0|B3KVW0|Q86YN3|Q86YN4|Q86YN5|Q8N1N9|Q8TDE4|Q8TDE5	Missense_Mutation	SNP	ENST00000309241.5	37	c.850A>T	CCDS4298.1	.	.	.	.	.	.	.	.	.	.	A	3.681	-0.065610	0.07273	.	.	ENSG00000155846	ENST00000360453;ENST00000394320;ENST00000309241;ENST00000403750	T;T;T;T	0.06768	3.26;3.28;3.29;3.26	5.76	3.5	0.40072	.	0.365715	0.29861	N	0.011016	T	0.04543	0.0124	L	0.27053	0.805	0.20563	N	0.99989	B;B;B;B;B	0.10296	0.001;0.003;0.001;0.001;0.003	B;B;B;B;B	0.09377	0.002;0.003;0.004;0.001;0.002	T	0.45702	-0.9243	10	0.07813	T	0.8	-3.4708	4.7279	0.12950	0.5455:0.2237:0.2308:0.0	.	263;263;245;284;284	Q86YN6-2;Q86YN6-4;Q86YN6-5;Q86YN6;Q86YN6-3	.;.;.;PRGC2_HUMAN;.	L	245;284;284;220	ENSP00000353638:M245L;ENSP00000377855:M284L;ENSP00000312649:M284L;ENSP00000384403:M220L	ENSP00000312649:M284L	M	+	1	0	PPARGC1B	149192679	0.769000	0.28531	1.000000	0.80357	0.371000	0.29859	-0.081000	0.11321	0.495000	0.27882	0.533000	0.62120	ATG		0.672	PPARGC1B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252334.1	NM_133263		31	87	0	0	0	1	0	31	87					T	149212486	A	T	149212486	3	4	76	1	0	0	0	0	1	0	0	0	12301	217	8	5	875	5	PPARGC1B	5	149212486	Missense_Mutation	SNP	A	TCGA-EJ-5532-01A-01D-1576-08	94806562	149212486	31702774	13	3981											
SLC26A2	1836	broad.mit.edu	37	chr5	149360521	149360521	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acaggctgccatactcagctTtctggtgtggtaacagccct	8	11	10	12	0	2	0	1	0	1	0	2	0	2	0	2	3	5	3	2	3	2	3			TCGA-EJ-5532-01A-01D-1576-08	TCGA-EJ-5532-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64b492d0-73c0-4de0-bad1-5ef62275b035	d441d979-16c2-4638-a963-550f1bffd4e8	g.chr5:149360521T>A	ENST00000286298.4	+	3	1633	c.1365T>A	c.(1363-1365)ctT>ctA	p.L455L		NM_000112.3	NP_000103.2	P50443	S26A2_HUMAN	solute carrier family 26 (anion exchanger), member 2	455					3'-phosphoadenosine 5'-phosphosulfate biosynthetic process (GO:0050428)|3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|ion transport (GO:0006811)|ossification (GO:0001503)|small molecule metabolic process (GO:0044281)|sulfate transmembrane transport (GO:1902358)|sulfate transport (GO:0008272)|transmembrane transport (GO:0055085)|xenobiotic metabolic process (GO:0006805)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	secondary active sulfate transmembrane transporter activity (GO:0008271)|sulfate transmembrane transporter activity (GO:0015116)	p.L455L(1)		NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(1)|prostate(2)|stomach(1)	18			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			ATACTCAGCTTTCTGGTGTGG	0.418																																						ENST00000286298.4																			1	Substitution - coding silent(1)	p.L455L(1)	prostate(1)	NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(1)|prostate(2)|stomach(1)	18						c.(1363-1365)ctT>ctA		solute carrier family 26 (anion exchanger), member 2							105	103	104					5																	149360521		2203	4300	6503	SO:0001819	synonymous_variant	1836					integral to plasma membrane|membrane fraction	secondary active sulfate transmembrane transporter activity	g.chr5:149360521T>A	U14528	CCDS4300.1	5q31-q34	2014-09-17	2013-07-18		ENSG00000155850	ENSG00000155850		"Solute carriers"	10994	protein-coding gene	gene with protein product		606718	"solute carrier family 26 (sulfate transporter), member 2"	DTD		7923357	Standard	NM_000112		Approved	DTDST	uc003lrh.3	P50443	OTTHUMG00000130054	ENST00000286298.4:c.1365T>A	5.37:g.149360521T>A							p.L455L	NM_000112.3	NP_000103.2	P50443	S26A2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		3	1633	+			455					A8K2U3|B2R6J1|Q6N051	Silent	SNP	ENST00000286298.4	37	c.1365T>A	CCDS4300.1																																																																																				0.418	SLC26A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252333.2	NM_000112		39	92	0	0	0	1	0	39	92					A	149360521	T	A	149360521	2	1	76	1	0	0	0	0	0	0	0	1	14517	1828	64	5		5	SLC26A2	5	149360521	Silent	SNP	T	TCGA-EJ-5532-01A-01D-1576-08	148035	149360521	31554739	14	3982											
GABRB2	2561	broad.mit.edu	37	chr5	160886675	160886675	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caggatgcaggcgaatcatgCggttcttaacagtcactccg	10	9	11	11	3	3	0	2	0	1	0	4	2	4	1	1	3	3	2	1	3	2	2			TCGA-EJ-5532-01A-01D-1576-08	TCGA-EJ-5532-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64b492d0-73c0-4de0-bad1-5ef62275b035	d441d979-16c2-4638-a963-550f1bffd4e8	g.chr5:160886675C>T	ENST00000393959.1	-	4	412	c.413G>A	c.(412-414)cGc>cAc	p.R138H	GABRB2_ENST00000517547.1_Intron|GABRB2_ENST00000517901.1_Missense_Mutation_p.R75H|GABRB2_ENST00000274547.2_Missense_Mutation_p.R138H|GABRB2_ENST00000353437.6_Missense_Mutation_p.R138H|GABRB2_ENST00000520240.1_Missense_Mutation_p.R138H			P47870	GBRB2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 2	138					cellular response to histamine (GO:0071420)|chloride transmembrane transport (GO:1902476)|cochlea development (GO:0090102)|gamma-aminobutyric acid signaling pathway (GO:0007214)|inner ear receptor cell development (GO:0060119)|innervation (GO:0060384)|ion transmembrane transport (GO:0034220)|negative regulation of neuron apoptotic process (GO:0043524)|sensory perception of sound (GO:0007605)|synaptic transmission (GO:0007268)|synaptic transmission, GABAergic (GO:0051932)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|GABA-A receptor complex (GO:1902711)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|GABA-A receptor activity (GO:0004890)|inhibitory extracellular ligand-gated ion channel activity (GO:0005237)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(9)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	26	Renal(175;0.00259)	Medulloblastoma(196;0.021)|all_neural(177;0.0463)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Fospropofol(DB06716)|Ginkgo biloba(DB01381)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	GCGAATCATGCGGTTCTTAAC	0.448																																						ENST00000274547.2																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(9)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	26						c.(412-414)cGc>cAc		gamma-aminobutyric acid (GABA) A receptor, beta 2	Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)						104	95	98					5																	160886675		2203	4300	6503	SO:0001583	missense	0				gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|GABA-A receptor activity	g.chr5:160886675C>T		CCDS4354.1, CCDS4355.1	5q34	2012-06-22			ENSG00000145864	ENSG00000145864		"GABA receptors", "Ligand-gated ion channels / GABA(A) receptors"	4082	protein-coding gene	gene with protein product	"GABA(A) receptor, beta 2"	600232				7851879	Standard	NM_000813		Approved		uc003lys.1	P47870	OTTHUMG00000130349	ENST00000393959.1:c.413G>A	5.37:g.160886675C>T	ENSP00000377531:p.Arg138His					GABRB2_ENST00000517901.1_Missense_Mutation_p.R75H|GABRB2_ENST00000520240.1_Missense_Mutation_p.R138H|GABRB2_ENST00000353437.6_Missense_Mutation_p.R138H|GABRB2_ENST00000393959.1_Missense_Mutation_p.R138H|GABRB2_ENST00000517547.1_Intron	p.R138H	NM_000813.2|NM_021911.2	NP_000804.1|NP_068711.1	P47870	GBRB2_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		5	630	-	Renal(175;0.00259)	Medulloblastoma(196;0.021)|all_neural(177;0.0463)	138					A8K115|A8K1A0|D1LYT0|D1LYT1|Q16323|Q4FZB2	Missense_Mutation	SNP	ENST00000393959.1	37	c.413G>A	CCDS4355.1	.	.	.	.	.	.	.	.	.	.	C	34	5.364320	0.95877	.	.	ENSG00000145864	ENST00000393959;ENST00000274547;ENST00000353437;ENST00000520240;ENST00000517901	T;T;T;T;T	0.79352	-1.26;-1.26;-1.26;-1.26;-1.26	4.97	4.97	0.65823	Neurotransmitter-gated ion-channel ligand-binding (3);	0.102623	0.64402	D	0.000008	D	0.86875	0.6038	M	0.62209	1.925	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;1.0;1.0	D;D;D;D	0.80764	0.994;0.973;0.977;0.979	D	0.88229	0.2902	10	0.87932	D	0	.	18.6117	0.91288	0.0:1.0:0.0:0.0	.	138;75;138;138	B7Z4P0;E7EV50;P47870;P47870-1	.;.;GBRB2_HUMAN;.	H	138;138;138;138;75	ENSP00000377531:R138H;ENSP00000274547:R138H;ENSP00000274546:R138H;ENSP00000429320:R138H;ENSP00000430532:R75H	ENSP00000274547:R138H	R	-	2	0	GABRB2	160819253	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.650000	0.83521	2.455000	0.83008	0.655000	0.94253	CGC		0.448	GABRB2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252704.1			3	46	0	0	0	1	0	3	46					T	160886675	C	T	160886675	3	4	76	1	0	0	0	0	1	0	0	0	6167	768	27	1	1153	1	GABRB2	5	160886675	Missense_Mutation	SNP	C	TCGA-EJ-5532-01A-01D-1576-08	11526154	160886675	20028585	15	3983											
NKAPL	222698	broad.mit.edu	37	chr6	28227527	28227527	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aggaggctgaaggagagagaGaggattggggaattgggagc	13	5	21	2	0	0	3	0	1	0	2	0	10	0	8	0	7	1	1	0	7	2	2			TCGA-EJ-5532-01A-01D-1576-08	TCGA-EJ-5532-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64b492d0-73c0-4de0-bad1-5ef62275b035	d441d979-16c2-4638-a963-550f1bffd4e8	g.chr6:28227527G>A	ENST00000343684.3	+	1	430	c.378G>A	c.(376-378)gaG>gaA	p.E126E	ZKSCAN4_ENST00000423974.2_5'Flank	NM_001007531.1	NP_001007532.1	Q5M9Q1	NKAPL_HUMAN	NFKB activating protein-like	126								p.E126E(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31						AGGAGAGAGAGAGGATTGGGG	0.542																																						ENST00000343684.3																			1	Substitution - coding silent(1)	p.E126E(1)	prostate(1)	breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31						c.(376-378)gaG>gaA		NFKB activating protein-like							91	97	95					6																	28227527		2203	4300	6503	SO:0001819	synonymous_variant	222698							g.chr6:28227527G>A	BC038240	CCDS34353.1	6p21.33	2008-02-05	2007-08-16	2007-08-16	ENSG00000189134	ENSG00000189134			21584	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 194"	C6orf194			Standard	NM_001007531		Approved	bA424I5.1	uc003nkt.4	Q5M9Q1	OTTHUMG00000014517	ENST00000343684.3:c.378G>A	6.37:g.28227527G>A							p.E126E	NM_001007531.1	NP_001007532.1	Q5M9Q1	NKAPL_HUMAN			1	430	+			126					Q3MIV1|Q9H4Q7	Silent	SNP	ENST00000343684.3	37	c.378G>A	CCDS34353.1																																																																																				0.542	NKAPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040185.1			38	73	0	0	0	1	0	38	73					A	28227527	G	A	28227527	2	1	76	1	0	0	0	0	0	0	0	1	10440	933	33	3		3	NKAPL	6	28227527	Silent	SNP	G	TCGA-EJ-5532-01A-01D-1576-08		28227527	142887540	16	3984											
MAS1L	116511	broad.mit.edu	37	chr6	29454710	29454710	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tctgagagattccttcagccTtttctttctgaggctcccca	6	15	7	13	0	4	3	1	2	3	1	6	4	6	3	4	1	1	1	4	1	0	5			TCGA-EJ-5532-01A-01D-1576-08	TCGA-EJ-5532-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64b492d0-73c0-4de0-bad1-5ef62275b035	d441d979-16c2-4638-a963-550f1bffd4e8	g.chr6:29454710T>C	ENST00000377127.3	-	1	1028	c.970A>G	c.(970-972)Agg>Ggg	p.R324G		NM_052967.1	NP_443199.1	P35410	MAS1L_HUMAN	MAS1 proto-oncogene like, G protein-coupled receptor	324					G-protein coupled receptor signaling pathway (GO:0007186)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.R324G(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(7)|pancreas(1)|prostate(2)|skin(2)	28						TCCTTCAGCCTTTTCTTTCTG	0.463																																					NSCLC(153;755 1987 3859 11251 32945)	ENST00000377127.3																			1	Substitution - Missense(1)	p.R324G(1)	prostate(1)	NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(7)|pancreas(1)|prostate(2)|skin(2)	28						c.(970-972)Agg>Ggg		MAS1 oncogene-like							94	100	98					6																	29454710		2203	4300	6503	SO:0001583	missense	116511					cytoplasm|integral to membrane|nucleus|plasma membrane	G-protein coupled receptor activity	g.chr6:29454710T>C	S78653	CCDS4661.1	6p22.1	2014-06-26	2014-06-26		ENSG00000204687	ENSG00000204687		"GPCR / Class A : Orphans"	13961	protein-coding gene	gene with protein product		607235	"MAS1 oncogene-like"				Standard	NM_052967		Approved	MAS-L, MRG, dJ994E9.2	uc011dlq.2	P35410	OTTHUMG00000031089	ENST00000377127.3:c.970A>G	6.37:g.29454710T>C	ENSP00000366331:p.Arg324Gly						p.R324G	NM_052967.1	NP_443199.1	P35410	MAS1L_HUMAN			1	1028	-			324					Q5SUN5	Missense_Mutation	SNP	ENST00000377127.3	37	c.970A>G	CCDS4661.1	.	.	.	.	.	.	.	.	.	.	T	7.400	0.632554	0.14322	.	.	ENSG00000204687	ENST00000377127	T	0.37584	1.19	2.36	-0.36	0.12568	.	.	.	.	.	T	0.14527	0.0351	L	0.39633	1.23	0.09310	N	1	B	0.29378	0.243	B	0.36845	0.234	T	0.38134	-0.9675	9	0.56958	D	0.05	.	8.1955	0.31394	0.0:0.0:0.4246:0.5754	.	324	P35410	MAS1L_HUMAN	G	324	ENSP00000366331:R324G	ENSP00000366331:R324G	R	-	1	2	MAS1L	29562689	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.995000	0.03712	-0.236000	0.09753	-0.612000	0.04053	AGG		0.463	MAS1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076126.2	NM_052967		5	220	0	0	0	1	0	5	220					C	29454710	T	C	29454710	3	2	76	1	0	0	0	0	1	0	0	0	9321	1608	56	4	168	4	MAS1L	6	29454710	Missense_Mutation	SNP	T	TCGA-EJ-5532-01A-01D-1576-08	1227183	29454710	141660357	17	3985											
WNT2	7472	broad.mit.edu	37	chr7	116937778	116937778	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gtgaaacctgtgccatcctgGttcatgaccacctggatggc	8	10	11	12	0	1	2	1	2	0	0	2	3	2	3	5	3	2	1	5	3	1	1			TCGA-EJ-5532-01A-01D-1576-08	TCGA-EJ-5532-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64b492d0-73c0-4de0-bad1-5ef62275b035	d441d979-16c2-4638-a963-550f1bffd4e8	g.chr7:116937778G>C	ENST00000265441.3	-	4	1040	c.741C>G	c.(739-741)aaC>aaG	p.N247K		NM_003391.2	NP_003382.1	P09544	WNT2_HUMAN	wingless-type MMTV integration site family member 2	247					atrial cardiac muscle tissue morphogenesis (GO:0055009)|canonical Wnt signaling pathway (GO:0060070)|cardiac epithelial to mesenchymal transition (GO:0060317)|cell fate commitment (GO:0045165)|cell-cell signaling (GO:0007267)|cellular response to retinoic acid (GO:0071300)|cellular response to transforming growth factor beta stimulus (GO:0071560)|iris morphogenesis (GO:0061072)|labyrinthine layer blood vessel development (GO:0060716)|lens development in camera-type eye (GO:0002088)|lung development (GO:0030324)|lung induction (GO:0060492)|mammary gland epithelium development (GO:0061180)|neuron differentiation (GO:0030182)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of epithelial cell proliferation involved in lung morphogenesis (GO:0060501)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	cytokine activity (GO:0005125)|frizzled binding (GO:0005109)|receptor agonist activity (GO:0048018)	p.N247K(1)		breast(2)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|ovary(3)|prostate(1)|skin(2)	31	all_epithelial(6;2.24e-06)|Lung NSC(10;0.000936)|all_lung(10;0.00109)		STAD - Stomach adenocarcinoma(10;0.000512)	LUSC - Lung squamous cell carcinoma(290;0.133)		TGCCATCCTGGTTCATGACCA	0.498																																						ENST00000265441.3																			1	Substitution - Missense(1)	p.N247K(1)	prostate(1)	breast(2)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|ovary(3)|prostate(1)|skin(2)	31						c.(739-741)aaC>aaG		wingless-type MMTV integration site family member 2							110	99	103					7																	116937778		2203	4300	6503	SO:0001583	missense	7472				atrial cardiac muscle tissue morphogenesis|canonical Wnt receptor signaling pathway|cardiac epithelial to mesenchymal transition|cellular response to retinoic acid|cellular response to transforming growth factor beta stimulus|dorsal/ventral axis specification|iris morphogenesis|labyrinthine layer blood vessel development|lens development in camera-type eye|lung induction|mammary gland epithelium development|neuron differentiation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of fibroblast proliferation|positive regulation of mesenchymal cell proliferation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|Wnt receptor signaling pathway, calcium modulating pathway	cytoplasm|extracellular space|proteinaceous extracellular matrix	cytokine activity|frizzled binding|frizzled-2 binding|signal transducer activity	g.chr7:116937778G>C	X07876	CCDS5771.1	7q31	2013-02-28			ENSG00000105989	ENSG00000105989		"Wingless-type MMTV integration sites", "Endogenous ligands"	12780	protein-coding gene	gene with protein product	"secreted growth factor"	147870		INT1L1		2971536	Standard	NM_003391		Approved	IRP	uc003viz.3	P09544	OTTHUMG00000023428	ENST00000265441.3:c.741C>G	7.37:g.116937778G>C	ENSP00000265441:p.Asn247Lys						p.N247K	NM_003391.2	NP_003382.1	P09544	WNT2_HUMAN	STAD - Stomach adenocarcinoma(10;0.000512)	LUSC - Lung squamous cell carcinoma(290;0.133)	4	1040	-	all_epithelial(6;2.24e-06)|Lung NSC(10;0.000936)|all_lung(10;0.00109)		247					A4D0V1|Q75N05|Q9UDP9	Missense_Mutation	SNP	ENST00000265441.3	37	c.741C>G	CCDS5771.1	.	.	.	.	.	.	.	.	.	.	G	14.64	2.597133	0.46318	.	.	ENSG00000105989	ENST00000265441	T	0.74842	-0.88	5.58	1.16	0.20824	.	0.085891	0.85682	N	0.000000	T	0.58764	0.2145	L	0.39514	1.22	0.51012	D	0.999909	B;B	0.25048	0.117;0.117	B;B	0.24006	0.05;0.05	T	0.49799	-0.8901	10	0.44086	T	0.13	.	4.1182	0.10092	0.3382:0.0:0.4969:0.1648	.	247;247	A4D0V1;P09544	.;WNT2_HUMAN	K	247	ENSP00000265441:N247K	ENSP00000265441:N247K	N	-	3	2	WNT2	116725014	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.903000	0.39858	0.398000	0.25338	0.561000	0.74099	AAC		0.498	WNT2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059749.3	NM_003391		61	120	0	0	0	1	0	61	120					C	116937778	G	C	116937778	3	2	76	1	0	0	0	0	1	0	0	0	17383	1252	44	5	349	5	WNT2	7	116937778	Missense_Mutation	SNP	G	TCGA-EJ-5532-01A-01D-1576-08		116937778	42200885	18	3986											
TRYX3	136541	broad.mit.edu	37	chr7	141955370	141955370	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctcacggtaaattgcagtgtGcagctgtgatcacccaaagc	11	9	10	11	1	2	1	2	1	0	0	2	1	2	1	1	1	4	4	1	1	3	2			TCGA-EJ-5532-01A-01D-1576-08	TCGA-EJ-5532-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64b492d0-73c0-4de0-bad1-5ef62275b035	d441d979-16c2-4638-a963-550f1bffd4e8	g.chr7:141955370G>A	ENST00000552471.1	-	2	483	c.164C>T	c.(163-165)gCa>gTa	p.A55V	PRSS58_ENST00000547058.2_Missense_Mutation_p.A55V			Q8IYP2	PRS58_HUMAN	protease, serine, 58	55	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)	p.A55V(2)		kidney(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(2)|skin(2)	19						ATTGCAGTGTGCAGCTGTGAT	0.522																																						ENST00000552471.1																			2	Substitution - Missense(2)	p.A55V(2)	prostate(2)	kidney(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(2)|skin(2)	19						c.(163-165)gCa>gTa		protease, serine, 58							80	78	78					7																	141955370		2203	4300	6503	SO:0001583	missense	136541				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr7:141955370G>A		CCDS5871.1	7q34	2012-10-03			ENSG00000258223	ENSG00000258223	3.4.21.4	"Serine peptidases / Serine peptidases"	39125	protein-coding gene	gene with protein product	"trypsin X3"						Standard	NM_001001317		Approved	TRYX3	uc003vxc.4	Q8IYP2	OTTHUMG00000158565	ENST00000552471.1:c.164C>T	7.37:g.141955370G>A	ENSP00000446916:p.Ala55Val					PRSS58_ENST00000547058.2_Missense_Mutation_p.A55V	p.A55V			Q8IYP2	PRS58_HUMAN			2	483	-			55			Peptidase S1.		B3KVJ6|D3DXD2	Missense_Mutation	SNP	ENST00000552471.1	37	c.164C>T	CCDS5871.1	.	.	.	.	.	.	.	.	.	.	G	27.5	4.837103	0.91117	.	.	ENSG00000258223	ENST00000547058;ENST00000552471	D;D	0.89746	-2.56;-2.56	5.19	5.19	0.71726	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	.	.	.	.	D	0.96796	0.8954	H	0.98446	4.235	0.44515	D	0.99746	D	0.89917	1.0	D	0.81914	0.995	D	0.98048	1.0386	9	0.87932	D	0	.	16.2693	0.82607	0.0:0.0:1.0:0.0	.	55	Q8IYP2	PRS58_HUMAN	V	55	ENSP00000447588:A55V;ENSP00000446916:A55V	ENSP00000307206:A55V	A	-	2	0	PRSS58	141601847	1.000000	0.71417	0.997000	0.53966	0.977000	0.68977	5.874000	0.69652	2.711000	0.92665	0.655000	0.94253	GCA		0.522	PRSS58-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351328.2	NM_001001317		33	78	0	0	0	1	0	33	78					A	141955370	G	A	141955370	3	1	76	1	0	0	0	0	1	0	0	0	16601	1319	46	3	577	3	TRYX3	7	141955370	Missense_Mutation	SNP	G	TCGA-EJ-5532-01A-01D-1576-08	25017592	141955370	17183293	19	3987											
KLHL9	55958	broad.mit.edu	37	chr9	21333237	21333237	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	agattttattttcaaagacgGcaactccaacatcactttgg	13	13	6	9	1	2	2	2	0	0	2	3	2	3	2	1	2	2	1	1	2	4	5			TCGA-EJ-5532-01A-01D-1576-08	TCGA-EJ-5532-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64b492d0-73c0-4de0-bad1-5ef62275b035	d441d979-16c2-4638-a963-550f1bffd4e8	g.chr9:21333237G>A	ENST00000359039.4	-	1	2142	c.1622C>T	c.(1621-1623)gCc>gTc	p.A541V	KLHL9_ENST00000537938.1_Missense_Mutation_p.A473V			Q9P2J3	KLHL9_HUMAN	kelch-like family member 9	541					cytokinesis (GO:0000910)|mitotic nuclear division (GO:0007067)|protein ubiquitination (GO:0016567)	Cul3-RING ubiquitin ligase complex (GO:0031463)|midbody (GO:0030496)				endometrium(9)|large_intestine(7)|lung(10)|ovary(4)|skin(2)	32				Lung(24;8.52e-27)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.118)		TTCAAAGACGGCAACTCCAAC	0.398																																						ENST00000359039.4																			0				endometrium(9)|large_intestine(7)|lung(10)|ovary(4)|skin(2)	32						c.(1621-1623)gCc>gTc		kelch-like family member 9							169	167	168					9																	21333237		2203	4300	6503	SO:0001583	missense	55958				cytokinesis|mitosis|protein ubiquitination	Cul3-RING ubiquitin ligase complex|midbody		g.chr9:21333237G>A	AB037775	CCDS6503.1	9p22	2013-01-30	2013-01-30		ENSG00000198642	ENSG00000198642		"Kelch-like", "BTB/POZ domain containing"	18732	protein-coding gene	gene with protein product		611201	"kelch-like 9 (Drosophila)"				Standard	NM_018847		Approved	KIAA1354, FLJ13568	uc003zoy.3	Q9P2J3	OTTHUMG00000019669	ENST00000359039.4:c.1622C>T	9.37:g.21333237G>A	ENSP00000351933:p.Ala541Val					KLHL9_ENST00000537938.1_Missense_Mutation_p.A473V	p.A541V			Q9P2J3	KLHL9_HUMAN		Lung(24;8.52e-27)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.118)	1	2142	-			541					Q8TCQ2	Missense_Mutation	SNP	ENST00000359039.4	37	c.1622C>T	CCDS6503.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.174520	0.78452	.	.	ENSG00000198642	ENST00000359039;ENST00000537938	T;T	0.76839	-1.05;-1.05	4.97	4.97	0.65823	Galactose oxidase, beta-propeller (1);	0.120451	0.56097	D	0.000040	D	0.82618	0.5076	L	0.52011	1.625	0.80722	D	1	D	0.59767	0.986	D	0.62955	0.909	T	0.79022	-0.1973	10	0.22109	T	0.4	.	16.1095	0.81250	0.0:0.0:1.0:0.0	.	541	Q9P2J3	KLHL9_HUMAN	V	541;473	ENSP00000351933:A541V;ENSP00000437733:A473V	ENSP00000351933:A541V	A	-	2	0	KLHL9	21323237	1.000000	0.71417	0.970000	0.41538	0.991000	0.79684	9.764000	0.98949	2.472000	0.83506	0.655000	0.94253	GCC		0.398	KLHL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051898.2	NM_018847		5	275	0	0	0	1	0	5	275					A	21333237	G	A	21333237	3	1	76	1	0	0	0	0	1	0	0	0	8396	1203	42	3	235	3	KLHL9	9	21333237	Missense_Mutation	SNP	G	TCGA-EJ-5532-01A-01D-1576-08		21333237	119880194	20	3988											
C10orf71	118461	broad.mit.edu	37	chr10	50531524	50531524	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	actatggggacacgaccttgCtaagagaaccctgtcctcct	10	9	9	13	1	0	1	0	0	0	1	2	4	2	2	4	2	2	1	4	2	3	3			TCGA-EJ-5532-01A-01D-1576-08	TCGA-EJ-5532-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64b492d0-73c0-4de0-bad1-5ef62275b035	d441d979-16c2-4638-a963-550f1bffd4e8	g.chr10:50531524C>A	ENST00000374144.3	+	3	1222	c.934C>A	c.(934-936)Cta>Ata	p.L312I	C10orf71_ENST00000323868.4_Missense_Mutation_p.L312I			Q711Q0	CJ071_HUMAN	chromosome 10 open reading frame 71	312								p.L312I(2)		endometrium(1)	1						CACGACCTTGCTAAGAGAACC	0.577																																						ENST00000374144.3																			2	Substitution - Missense(2)	p.L312I(2)	prostate(2)	endometrium(1)	1						c.(934-936)Cta>Ata		chromosome 10 open reading frame 71							68	76	74					10																	50531524		2055	4201	6256	SO:0001583	missense	118461							g.chr10:50531524C>A	AL833265	CCDS44387.1	10q11.23	2012-05-31			ENSG00000177354	ENSG00000177354			26973	protein-coding gene	gene with protein product							Standard	NM_001135196		Approved	FLJ45913	uc021pqa.2	Q711Q0	OTTHUMG00000018190	ENST00000374144.3:c.934C>A	10.37:g.50531524C>A	ENSP00000363259:p.Leu312Ile					C10orf71_ENST00000323868.4_Missense_Mutation_p.L312I	p.L312I			Q711Q0	CJ071_HUMAN			3	1222	+			312					A0AVL8	Missense_Mutation	SNP	ENST00000374144.3	37	c.934C>A	CCDS44387.1	.	.	.	.	.	.	.	.	.	.	C	7.549	0.662270	0.14645	.	.	ENSG00000177354	ENST00000323868;ENST00000374144	T;T	0.16457	2.34;3.46	5.25	-5.58	0.02512	.	0.756374	0.10602	N	0.655547	T	0.11196	0.0273	L	0.59436	1.845	0.09310	N	1	B	0.32753	0.383	B	0.28849	0.095	T	0.19192	-1.0313	10	0.23302	T	0.38	.	3.587	0.07974	0.0891:0.1827:0.2653:0.4628	.	312	Q711Q0-3	.	I	312	ENSP00000318713:L312I;ENSP00000363259:L312I	ENSP00000318713:L312I	L	+	1	2	C10orf71	50201530	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-1.901000	0.01597	-1.284000	0.02390	-0.258000	0.10820	CTA		0.577	C10orf71-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047984.2	NM_199459		3	65	1	0	0.115264	1	0.115264	3	65					A	50531524	C	A	50531524	3	1	76	1	0	0	0	0	1	0	0	0	1614	796	28	5	936	5	C10orf71	10	50531524	Missense_Mutation	SNP	C	TCGA-EJ-5532-01A-01D-1576-08		50531524	85003223	21	3989											
TACC2	10579	broad.mit.edu	37	chr10	123954657	123954657	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cccgaagtcatcccagaaccCgaggtcagcacacagccacc	12	3	8	18	2	2	1	2	0	0	1	3	3	3	1	5	1	3	1	5	1	2	0	rs138045107	byFrequency	TCGA-EJ-5532-01A-01D-1576-08	TCGA-EJ-5532-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64b492d0-73c0-4de0-bad1-5ef62275b035	d441d979-16c2-4638-a963-550f1bffd4e8	g.chr10:123954657C>T	ENST00000369005.1	+	8	6277	c.5937C>T	c.(5935-5937)ccC>ccT	p.P1979P	TACC2_ENST00000513429.1_Silent_p.P125P|TACC2_ENST00000334433.3_Silent_p.P1979P|TACC2_ENST00000358010.1_Silent_p.P125P|TACC2_ENST00000360561.3_Silent_p.P57P|TACC2_ENST00000453444.2_Silent_p.P1983P|TACC2_ENST00000369001.1_5'UTR|TACC2_ENST00000515603.1_Silent_p.P1934P|TACC2_ENST00000369000.1_5'UTR|TACC2_ENST00000260733.3_Silent_p.P57P|TACC2_ENST00000515273.1_Silent_p.P1983P|TACC2_ENST00000493951.1_3'UTR|TACC2_ENST00000369004.3_Silent_p.P57P|TACC2_ENST00000368999.1_Silent_p.P57P	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	1979	Pro-rich.				astral microtubule organization (GO:0030953)|cerebral cortex development (GO:0021987)|interkinetic nuclear migration (GO:0022027)|neurogenesis (GO:0022008)|regulation of microtubule-based process (GO:0032886)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleus (GO:0005634)	nuclear hormone receptor binding (GO:0035257)	p.P1979P(2)		NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				TCCCAGAACCCGAGGTCAGCA	0.622																																						ENST00000369005.1																			2	Substitution - coding silent(2)	p.P1979P(2)	prostate(2)	NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83						c.(5935-5937)ccC>ccT		transforming, acidic coiled-coil containing protein 2		C	,,,	0,4406		0,0,2203	51	57	55		171,171,375,5937	-9.2	0	10	dbSNP_134	55	6,8594	5.0+/-18.6	0,6,4294	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	TACC2	NM_006997.2,NM_206860.1,NM_206861.1,NM_206862.2	,,,	0,6,6497	TT,TC,CC		0.0698,0.0,0.0461	,,,	57/1027,57/997,125/1095,1979/2949	123954657	6,13000	2203	4300	6503	SO:0001819	synonymous_variant	10579					microtubule organizing center|nucleus	nuclear hormone receptor binding	g.chr10:123954657C>T	AF095791	CCDS7625.1, CCDS7626.1, CCDS7627.1, CCDS7628.1	10q26	2008-07-29			ENSG00000138162	ENSG00000138162			11523	protein-coding gene	gene with protein product		605302				14767476	Standard	XM_005269388		Approved	AZU-1	uc001lfv.3	O95359	OTTHUMG00000019181	ENST00000369005.1:c.5937C>T	10.37:g.123954657C>T						TACC2_ENST00000369001.1_5'UTR|TACC2_ENST00000260733.3_Silent_p.P57P|TACC2_ENST00000493951.1_3'UTR|TACC2_ENST00000360561.3_Silent_p.P57P|TACC2_ENST00000515603.1_Silent_p.P1934P|TACC2_ENST00000358010.1_Silent_p.P125P|TACC2_ENST00000513429.1_Silent_p.P125P|TACC2_ENST00000368999.1_Silent_p.P57P|TACC2_ENST00000369000.1_5'UTR|TACC2_ENST00000369004.3_Silent_p.P57P|TACC2_ENST00000453444.2_Silent_p.P1983P|TACC2_ENST00000515273.1_Silent_p.P1983P|TACC2_ENST00000334433.3_Silent_p.P1979P	p.P1979P	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN			8	6277	+		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)	1979			Pro-rich.		Q4VXL0|Q4VXL3|Q4VXL6|Q4VXL7|Q5U5T7|Q86WG6|Q86WG7|Q8TCK9|Q9BVQ1|Q9NZ41|Q9NZR5	Silent	SNP	ENST00000369005.1	37	c.5937C>T	CCDS7626.1																																																																																				0.622	TACC2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090004.1			26	53	0	0	0	1	0	26	53					T	123954657	C	T	123954657	2	4	76	1	0	0	0	0	0	0	0	1	15499	639	23	2		2	TACC2	10	123954657	Silent	SNP	C	TCGA-EJ-5532-01A-01D-1576-08	73423133	123954657	11580090	22	3990											
DMBT1	1755	broad.mit.edu	37	chr10	124358388	124358388	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gctcctggggcaccgtgtgcGatgacagctgggacaccaat	8	7	14	12	2	0	1	0	1	0	0	1	3	1	2	3	3	2	3	3	3	1	0			TCGA-EJ-5532-01A-01D-1576-08	TCGA-EJ-5532-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64b492d0-73c0-4de0-bad1-5ef62275b035	d441d979-16c2-4638-a963-550f1bffd4e8	g.chr10:124358388G>A	ENST00000338354.3	+	26	3161	c.3055G>A	c.(3055-3057)Gat>Aat	p.D1019N	DMBT1_ENST00000368909.3_Missense_Mutation_p.D1019N|DMBT1_ENST00000344338.3_Missense_Mutation_p.D1009N|DMBT1_ENST00000330163.4_Missense_Mutation_p.D520N|DMBT1_ENST00000359586.6_Intron|DMBT1_ENST00000368956.2_Missense_Mutation_p.D520N|DMBT1_ENST00000368955.3_Missense_Mutation_p.D1009N			Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	1019	SRCR 8. {ECO:0000255|PROSITE- ProRule:PRU00196}.				defense response to virus (GO:0051607)|epithelial cell differentiation (GO:0030855)|induction of bacterial agglutination (GO:0043152)|innate immune response (GO:0045087)|inner cell mass cell proliferation (GO:0001833)|pattern recognition receptor signaling pathway (GO:0002221)|positive regulation of epithelial cell differentiation (GO:0030858)|protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)|viral process (GO:0016032)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|phagocytic vesicle membrane (GO:0030670)|proteinaceous extracellular matrix (GO:0005578)|zymogen granule membrane (GO:0042589)	calcium-dependent protein binding (GO:0048306)|scavenger receptor activity (GO:0005044)|signaling pattern recognition receptor activity (GO:0008329)|zymogen binding (GO:0035375)	p.D1019N(3)		breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				CACCGTGTGCGATGACAGCTG	0.602																																					Ovarian(182;93 2026 18125 22222 38972)	ENST00000338354.3																			3	Substitution - Missense(3)	p.D1019N(3)	prostate(3)	breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72						c.(3055-3057)Gat>Aat		deleted in malignant brain tumors 1							313	308	310					10																	124358388		2038	4212	6250	SO:0001583	missense	1755				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding	g.chr10:124358388G>A		CCDS44490.1, CCDS44491.1, CCDS44492.1	10q25.3-q26.1	2008-08-01			ENSG00000187908	ENSG00000187908			2926	protein-coding gene	gene with protein product		601969				9288095, 17548659	Standard	NM_004406		Approved	GP340, muclin	uc001lgk.1	Q9UGM3	OTTHUMG00000019185	ENST00000338354.3:c.3055G>A	10.37:g.124358388G>A	ENSP00000342210:p.Asp1019Asn					DMBT1_ENST00000330163.4_Missense_Mutation_p.D520N|DMBT1_ENST00000359586.6_Intron|DMBT1_ENST00000368956.2_Missense_Mutation_p.D520N|DMBT1_ENST00000368955.3_Missense_Mutation_p.D1009N|DMBT1_ENST00000344338.3_Missense_Mutation_p.D1009N|DMBT1_ENST00000368909.3_Missense_Mutation_p.D1019N	p.D1019N			Q9UGM3	DMBT1_HUMAN			26	3161	+		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)	1019			SRCR 8.		A6NDG4|A6NDJ5|A8E4R5|B1ARE7|B1ARE8|B1ARE9|B1ARF0|B7Z8Y2|F8WEF7|Q59EX0|Q5JR26|Q6MZN4|Q96DU4|Q9UGM2|Q9UJ57|Q9UKJ4|Q9Y211|Q9Y4V9	Missense_Mutation	SNP	ENST00000338354.3	37	c.3055G>A		.	.	.	.	.	.	.	.	.	.	G	20.7	4.042049	0.75732	.	.	ENSG00000187908	ENST00000338354;ENST00000368915;ENST00000341278;ENST00000368953;ENST00000339871;ENST00000368942;ENST00000327438;ENST00000344338;ENST00000339712;ENST00000330163;ENST00000368909;ENST00000368955;ENST00000368956	T;T;T;T;T;T	0.35048	1.33;1.33;1.33;1.33;1.33;1.33	3.57	3.57	0.40892	Speract/scavenger receptor (3);Speract/scavenger receptor-related (2);	0.731959	0.11540	N	0.553844	T	0.68109	0.2965	M	0.90705	3.14	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.923;0.998;0.999;1.0	T	0.73279	-0.4033	10	0.66056	D	0.02	.	15.6089	0.76699	0.0:0.0:1.0:0.0	.	1019;520;1009;1019	Q9UGM3-6;Q9UGM3-2;Q9UGM3-3;Q9UGM3	.;.;.;DMBT1_HUMAN	N	1019;1019;1019;1019;1019;1019;520;1009;520;520;1019;1009;520	ENSP00000342210:D1019N;ENSP00000343175:D1009N;ENSP00000327747:D520N;ENSP00000357905:D1019N;ENSP00000357951:D1009N;ENSP00000357952:D520N	ENSP00000331522:D520N	D	+	1	0	DMBT1	124348378	1.000000	0.71417	0.937000	0.37676	0.480000	0.33159	7.392000	0.79840	1.716000	0.51395	0.558000	0.71614	GAT		0.602	DMBT1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000050792.2	NM_004406		219	349	0	0	0	1	0	219	349					A	124358388	G	A	124358388	3	1	76	1	0	0	0	0	1	0	0	0	4577	1058	37	2	3157	2	DMBT1	10	124358388	Missense_Mutation	SNP	G	TCGA-EJ-5532-01A-01D-1576-08	403731	124358388	11176359	23	3991											
FOLH1	2346	broad.mit.edu	37	chr11	49168464	49168464	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gggaatgactcccctgcataCttgttgtggctgcttggagc	6	12	13	10	0	0	1	0	1	0	0	1	3	1	3	2	3	4	4	2	3	2	4			TCGA-EJ-5532-01A-01D-1576-08	TCGA-EJ-5532-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64b492d0-73c0-4de0-bad1-5ef62275b035	d441d979-16c2-4638-a963-550f1bffd4e8	g.chr11:49168464C>G	ENST00000256999.2	-	19	2357	c.2097G>C	c.(2095-2097)aaG>aaC	p.K699N	FOLH1_ENST00000340334.7_Missense_Mutation_p.K684N|FOLH1_ENST00000356696.3_Missense_Mutation_p.K668N|FOLH1_ENST00000343844.4_Missense_Mutation_p.K391N|FOLH1_ENST00000533034.1_Missense_Mutation_p.K653N	NM_004476.1	NP_004467.1	Q04609	FOLH1_HUMAN	folate hydrolase (prostate-specific membrane antigen) 1	699	Substrate binding.				folic acid-containing compound metabolic process (GO:0006760)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	carboxypeptidase activity (GO:0004180)|dipeptidase activity (GO:0016805)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|peptidase activity (GO:0008233)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(34)|ovary(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	60					Capromab(DB00089)	CCCCTGCATACTTGTTGTGGC	0.428																																						ENST00000340334.7																			0				NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(34)|ovary(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	60						c.(2050-2052)aaG>aaC		folate hydrolase (prostate-specific membrane antigen) 1	Capromab(DB00089)|L-Glutamic Acid(DB00142)						116	113	114					11																	49168464		2200	4278	6478	SO:0001583	missense	2346				proteolysis	cytoplasm|integral to plasma membrane|membrane fraction|nucleus	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity	g.chr11:49168464C>G	M99487	CCDS7946.1, CCDS31493.1, CCDS53626.1, CCDS53627.1, CCDS53628.1	11p11.2	2011-07-22			ENSG00000086205	ENSG00000086205	3.4.17.21		3788	protein-coding gene	gene with protein product	"glutamate carboxylase II", "glutamate carboxypeptidase II"	600934		FOLH		9838072	Standard	NM_001193472		Approved	PSM, PSMA, NAALAD1, NAALAdase, GCP2, GCPII	uc001ngy.3	Q04609	OTTHUMG00000166625	ENST00000256999.2:c.2097G>C	11.37:g.49168464C>G	ENSP00000256999:p.Lys699Asn					FOLH1_ENST00000343844.4_Missense_Mutation_p.K391N|FOLH1_ENST00000356696.3_Missense_Mutation_p.K668N|FOLH1_ENST00000533034.1_Missense_Mutation_p.K653N|FOLH1_ENST00000256999.2_Missense_Mutation_p.K699N	p.K684N	NM_001193471.1|NM_001193472.1	NP_001180400.1|NP_001180401.1	Q04609	FOLH1_HUMAN			20	2420	-			699					A4UU12|A9CB79|B7Z312|B7Z343|D3DQS5|E9PDX8|O43748|Q16305|Q541A4|Q8TAY3|Q9NP15|Q9NYE2|Q9P1P8	Missense_Mutation	SNP	ENST00000256999.2	37	c.2052G>C	CCDS7946.1	.	.	.	.	.	.	.	.	.	.	C	15.94	2.981238	0.53827	.	.	ENSG00000086205	ENST00000256999;ENST00000356696;ENST00000340334;ENST00000343844;ENST00000533034	T;T;T;T;T	0.29655	1.56;1.56;1.56;1.56;1.56	3.26	0.534	0.17127	Transferrin receptor-like, dimerisation domain (3);	0.000000	0.47093	U	0.000256	T	0.48607	0.1509	M	0.80746	2.51	0.58432	D	0.999992	D;D;P;D	0.89917	1.0;1.0;0.86;1.0	D;D;B;D	0.87578	0.996;0.994;0.43;0.998	T	0.40156	-0.9578	10	0.30854	T	0.27	.	6.6491	0.22951	0.0:0.6398:0.0:0.3602	.	653;684;668;699	Q04609-9;Q04609-7;Q04609-8;Q04609	.;.;.;FOLH1_HUMAN	N	699;668;684;391;653	ENSP00000256999:K699N;ENSP00000349129:K668N;ENSP00000344131:K684N;ENSP00000344086:K391N;ENSP00000431463:K653N	ENSP00000256999:K699N	K	-	3	2	FOLH1	49125040	0.986000	0.35501	0.989000	0.46669	0.987000	0.75469	0.137000	0.15995	0.214000	0.20742	0.609000	0.83330	AAG		0.428	FOLH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390896.1	NM_004476		4	205	0	0	0	1	0	4	205					G	49168464	C	G	49168464	3	3	76	1	0	0	0	0	1	0	0	0	5979	564	20	5	159	5	FOLH1	11	49168464	Missense_Mutation	SNP	C	TCGA-EJ-5532-01A-01D-1576-08		49168464	85838052	24	3992											
OR4C13	283092	broad.mit.edu	37	chr11	49974537	49974537	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttgatcaatcttgcctgcaCtaatacccacactctaggac	11	12	5	13	0	3	1	1	1	2	0	3	2	3	2	2	1	3	1	2	1	4	5			TCGA-EJ-5532-01A-01D-1576-08	TCGA-EJ-5532-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64b492d0-73c0-4de0-bad1-5ef62275b035	d441d979-16c2-4638-a963-550f1bffd4e8	g.chr11:49974537C>T	ENST00000555099.1	+	1	595	c.563C>T	c.(562-564)aCt>aTt	p.T188I		NM_001001955.2	NP_001001955.2	Q8NGP0	OR4CD_HUMAN	olfactory receptor, family 4, subfamily C, member 13	188						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.T188I(1)		autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	43						CTTGCCTGCACTAATACCCAC	0.438																																						ENST00000555099.1																			1	Substitution - Missense(1)	p.T188I(1)	prostate(1)	autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	43						c.(562-564)aCt>aTt		olfactory receptor, family 4, subfamily C, member 13							228	202	211					11																	49974537		2201	4296	6497	SO:0001583	missense	283092				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:49974537C>T	AB065750	CCDS31495.1	11p11.12	2012-10-03			ENSG00000258817	ENSG00000258817		"GPCR / Class A : Olfactory receptors"	15169	protein-coding gene	gene with protein product							Standard	NM_001001955		Approved		uc010rhz.2	Q8NGP0	OTTHUMG00000166686	ENST00000555099.1:c.563C>T	11.37:g.49974537C>T	ENSP00000452277:p.Thr188Ile						p.T188I	NM_001001955.2	NP_001001955.2	Q8NGP0	OR4CD_HUMAN			1	595	+			188					A6NJJ3|B9EH30|Q6IF48|Q96R68	Missense_Mutation	SNP	ENST00000555099.1	37	c.563C>T	CCDS31495.1	.	.	.	.	.	.	.	.	.	.	.	3.627	-0.076422	0.07184	.	.	ENSG00000258817	ENST00000555099	T	0.00164	8.64	2.7	1.76	0.24704	GPCR, rhodopsin-like superfamily (1);	0.683159	0.12817	N	0.436747	T	0.00144	0.0004	L	0.48218	1.51	0.24075	N	0.995968	B	0.20550	0.046	B	0.32022	0.139	T	0.22103	-1.0226	9	.	.	.	.	2.8707	0.05616	0.2778:0.5648:0.0:0.1574	.	188	Q8NGP0	OR4CD_HUMAN	I	188	ENSP00000452277:T188I	.	T	+	2	0	OR4C13	49931113	0.000000	0.05858	0.996000	0.52242	0.076000	0.17211	-0.097000	0.11042	1.524000	0.49035	0.186000	0.17326	ACT		0.438	OR4C13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391103.1	NM_001001955		73	202	0	0	0	1	0	73	202					T	49974537	C	T	49974537	3	4	76	1	0	0	0	0	1	0	0	0	11047	565	20	3	565	3	OR4C13	11	49974537	Missense_Mutation	SNP	C	TCGA-EJ-5532-01A-01D-1576-08	806073	49974537	85031979	25	3993											
MYO7A	4647	broad.mit.edu	37	chr11	76868351	76868351	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gatgaaaggaactaccacgtGttctactgcatgctggaggg	11	9	13	8	1	1	1	0	1	1	0	1	4	1	3	1	3	5	3	1	3	4	3			TCGA-EJ-5532-01A-01D-1576-08	TCGA-EJ-5532-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64b492d0-73c0-4de0-bad1-5ef62275b035	d441d979-16c2-4638-a963-550f1bffd4e8	g.chr11:76868351G>A	ENST00000409709.3	+	8	1034	c.762G>A	c.(760-762)gtG>gtA	p.V254V	MYO7A_ENST00000458637.2_Silent_p.V254V|MYO7A_ENST00000409893.1_Silent_p.V254V|MYO7A_ENST00000409619.2_Silent_p.V243V	NM_000260.3	NP_000251.3	Q13402	MYO7A_HUMAN	myosin VIIA	254	Myosin motor.				actin filament-based movement (GO:0030048)|auditory receptor cell stereocilium organization (GO:0060088)|equilibrioception (GO:0050957)|eye photoreceptor cell development (GO:0042462)|intracellular protein transport (GO:0006886)|lysosome organization (GO:0007040)|metabolic process (GO:0008152)|phagolysosome assembly (GO:0001845)|pigment granule transport (GO:0051904)|post-embryonic organ morphogenesis (GO:0048563)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|melanosome (GO:0042470)|myosin VII complex (GO:0031477)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|stereocilium (GO:0032420)|synapse (GO:0045202)	actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|spectrin binding (GO:0030507)	p.V254V(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						ACTACCACGTGTTCTACTGCA	0.582																																						ENST00000409709.3																			1	Substitution - coding silent(1)	p.V254V(1)	prostate(1)	NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						c.(760-762)gtG>gtA		myosin VIIA							74	83	80					11																	76868351		1960	4132	6092	SO:0001819	synonymous_variant	4647				actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception	cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse	actin binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr11:76868351G>A	U39226	CCDS53683.1, CCDS53684.1, CCDS53685.1	11q13.5	2013-01-08	2005-09-12		ENSG00000137474	ENSG00000137474		"A-kinase anchor proteins", "Myosins / Myosin superfamily : Class VII"	7606	protein-coding gene	gene with protein product		276903	"myosin VIIA (Usher syndrome 1B (autosomal recessive, severe))"	USH1B, DFNB2, DFNA11		8884266	Standard	NM_000260		Approved	NSRD2	uc001oyb.2	Q13402	OTTHUMG00000152822	ENST00000409709.3:c.762G>A	11.37:g.76868351G>A						MYO7A_ENST00000458637.2_Silent_p.V254V|MYO7A_ENST00000409893.1_Silent_p.V254V|MYO7A_ENST00000409619.2_Silent_p.V243V	p.V254V	NM_000260.3	NP_000251.3	Q13402	MYO7A_HUMAN			8	1034	+			254			Myosin head-like.		B9A011|F8VUN5|P78427|Q13321|Q14785|Q92821|Q92822	Silent	SNP	ENST00000409709.3	37	c.762G>A	CCDS53683.1																																																																																				0.582	MYO7A-001	KNOWN	non_canonical_conserved|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000328133.1	NM_000260		11	14	0	0	0	1	0	11	14					A	76868351	G	A	76868351	2	1	76	1	0	0	0	0	0	0	0	1	10082	1364	48	3		3	MYO7A	11	76868351	Silent	SNP	G	TCGA-EJ-5532-01A-01D-1576-08	26893814	76868351	58138165	26	3994											
CACNA2D4	93589	broad.mit.edu	37	chr12	1988135	1988135	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctcaccttgtaccggggcGccagcttcatcagctctctc	5	10	10	16	2	4	0	3	0	1	0	6	0	4	0	3	3	3	4	3	3	1	3			TCGA-EJ-5532-01A-01D-1576-08	TCGA-EJ-5532-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64b492d0-73c0-4de0-bad1-5ef62275b035	d441d979-16c2-4638-a963-550f1bffd4e8	g.chr12:1988135G>A	ENST00000382722.5	-	15	1993	c.1631C>T	c.(1630-1632)gCg>gTg	p.A544V	CACNA2D4_ENST00000586184.1_Missense_Mutation_p.A544V|CACNA2D4_ENST00000585732.1_Missense_Mutation_p.A429V|CACNA2D4_ENST00000588077.1_Missense_Mutation_p.A480V|CACNA2D4_ENST00000587995.1_Missense_Mutation_p.A544V|CACNA2D4_ENST00000585708.1_Missense_Mutation_p.A480V	NM_172364.4	NP_758952.4	Q7Z3S7	CA2D4_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 4	544	Cache.				calcium ion transmembrane transport (GO:0070588)|detection of light stimulus involved in visual perception (GO:0050908)	voltage-gated calcium channel complex (GO:0005891)	metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)	p.A544V(2)		endometrium(3)|kidney(2)|large_intestine(1)|liver(1)|lung(27)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	39	Ovarian(42;0.107)	Myeloproliferative disorder(1001;0.206)	OV - Ovarian serous cystadenocarcinoma(31;0.00113)	Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451)		GTACCGGGGCGCCAGCTTCAT	0.622																																					Colon(2;101 179 21030 23310 28141)	ENST00000382722.5																			2	Substitution - Missense(2)	p.A544V(2)	prostate(2)	endometrium(3)|kidney(2)|large_intestine(1)|liver(1)|lung(27)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	39						c.(1630-1632)gCg>gTg		calcium channel, voltage-dependent, alpha 2/delta subunit 4							38	45	43					12																	1988135		2021	4181	6202	SO:0001583	missense	93589					integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity	g.chr12:1988135G>A	AF516695	CCDS44785.1	12p13.33	2003-03-05			ENSG00000151062	ENSG00000151062		"Calcium channel subunits"	20202	protein-coding gene	gene with protein product		608171				12181424	Standard	NM_172364		Approved		uc021qsx.1	Q7Z3S7	OTTHUMG00000168111	ENST00000382722.5:c.1631C>T	12.37:g.1988135G>A	ENSP00000372169:p.Ala544Val					CACNA2D4_ENST00000585732.1_Missense_Mutation_p.A429V|CACNA2D4_ENST00000588077.1_Missense_Mutation_p.A480V|CACNA2D4_ENST00000585708.1_Missense_Mutation_p.A480V|CACNA2D4_ENST00000586184.1_Missense_Mutation_p.A544V|CACNA2D4_ENST00000587995.1_Missense_Mutation_p.A544V	p.A544V	NM_172364.4	NP_758952.4	Q7Z3S7	CA2D4_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00113)	Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451)	15	1993	-	Ovarian(42;0.107)	Myeloproliferative disorder(1001;0.206)	544			Cache.		Q7Z3S8|Q86XZ5|Q8IZS9	Missense_Mutation	SNP	ENST00000382722.5	37	c.1631C>T	CCDS44785.1	.	.	.	.	.	.	.	.	.	.	G	10.12	1.263247	0.23051	.	.	ENSG00000151062	ENST00000456077;ENST00000280663;ENST00000382722	T	0.05649	3.41	5.08	4.19	0.49359	Cache (1);	0.098319	0.64402	N	0.000001	T	0.06645	0.0170	N	0.02721	-0.515	0.58432	D	0.999998	P;D	0.89917	0.764;1.0	B;D	0.76071	0.095;0.987	T	0.34204	-0.9838	10	0.02654	T	1	.	13.4077	0.60924	0.0759:0.0:0.9241:0.0	.	544;544	Q7Z3S7-2;Q7Z3S7	.;CA2D4_HUMAN	V	480;544;544	ENSP00000372169:A544V	ENSP00000280663:A544V	A	-	2	0	CACNA2D4	1858396	1.000000	0.71417	0.991000	0.47740	0.435000	0.31806	6.795000	0.75140	1.145000	0.42336	0.655000	0.94253	GCG		0.622	CACNA2D4-001	KNOWN	non_canonical_U12|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000398230.2			8	24	0	0	0	1	0	8	24					A	1988135	G	A	1988135	3	1	76	1	0	0	0	0	1	0	0	0	2551	1087	38	1	1878	1	CACNA2D4	12	1988135	Missense_Mutation	SNP	G	TCGA-EJ-5532-01A-01D-1576-08		1988135	131863760	27	3995											
VWF	7450	broad.mit.edu	37	chr12	6172165	6172165	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcccagtccatctgcaggtcCtccccgtagctgaggcgcac	6	8	10	17	2	1	1	0	1	1	0	5	1	5	1	5	2	2	4	5	2	1	1			TCGA-EJ-5532-01A-01D-1576-08	TCGA-EJ-5532-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64b492d0-73c0-4de0-bad1-5ef62275b035	d441d979-16c2-4638-a963-550f1bffd4e8	g.chr12:6172165C>T	ENST00000261405.5	-	13	1742	c.1488G>A	c.(1486-1488)gaG>gaA	p.E496E		NM_000552.3	NP_000543	P04275	VWF_HUMAN	von Willebrand factor	496	VWFD 2. {ECO:0000255|PROSITE- ProRule:PRU00580}.				blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|cell-substrate adhesion (GO:0031589)|extracellular matrix organization (GO:0030198)|hemostasis (GO:0007599)|liver development (GO:0001889)|placenta development (GO:0001890)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|protein homooligomerization (GO:0051260)|response to wounding (GO:0009611)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|proteinaceous extracellular matrix (GO:0005578)|Weibel-Palade body (GO:0033093)	chaperone binding (GO:0051087)|collagen binding (GO:0005518)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|immunoglobulin binding (GO:0019865)|integrin binding (GO:0005178)|protease binding (GO:0002020)|protein homodimerization activity (GO:0042803)|protein N-terminus binding (GO:0047485)	p.E496E(1)		NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	TCTGCAGGTCCTCCCCGTAGC	0.657											OREG0021618	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000261405.5																			1	Substitution - coding silent(1)	p.E496E(1)	prostate(1)	NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129						c.(1486-1488)gaG>gaA		von Willebrand factor	Antihemophilic Factor(DB00025)						55	45	48					12																	6172165		2203	4300	6503	SO:0001819	synonymous_variant	7450				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding	g.chr12:6172165C>T		CCDS8539.1	12p13.3	2014-09-17			ENSG00000110799	ENSG00000110799		"Endogenous ligands"	12726	protein-coding gene	gene with protein product		613160		F8VWF		2251280	Standard	NM_000552		Approved		uc001qnn.1	P04275	OTTHUMG00000168265	ENST00000261405.5:c.1488G>A	12.37:g.6172165C>T			OREG0021618	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	632		p.E496E	NM_000552.3	NP_000543.2	P04275	VWF_HUMAN			13	1742	-			496			VWFD 2.		Q8TCE8|Q99806	Silent	SNP	ENST00000261405.5	37	c.1488G>A	CCDS8539.1																																																																																				0.657	VWF-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399020.1	NM_000552		8	21	0	0	0	1	0	8	21					T	6172165	C	T	6172165	2	4	76	1	0	0	0	0	0	0	0	1	17243	680	24	3		3	VWF	12	6172165	Silent	SNP	C	TCGA-EJ-5532-01A-01D-1576-08	4184030	6172165	127679730	28	3996											
GUCY2C	2984	broad.mit.edu	37	chr12	14822664	14822664	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gggatatcttaccccggcctGtaatatcattaggaagttta	11	13	9	8	1	2	0	1	0	1	0	2	2	2	2	3	3	1	2	3	3	7	7			TCGA-EJ-5532-01A-01D-1576-08	TCGA-EJ-5532-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64b492d0-73c0-4de0-bad1-5ef62275b035	d441d979-16c2-4638-a963-550f1bffd4e8	g.chr12:14822664G>T	ENST00000261170.3	-	10	1410	c.1274C>A	c.(1273-1275)aCa>aAa	p.T425K	RP11-174G6.1_ENST00000501178.2_RNA	NM_004963.3	NP_004954.2	P25092	GUC2C_HUMAN	guanylate cyclase 2C (heat stable enterotoxin receptor)	425					intracellular signal transduction (GO:0035556)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of cell proliferation (GO:0042127)|response to toxic substance (GO:0009636)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|protein kinase activity (GO:0004672)|toxic substance binding (GO:0015643)			breast(3)|endometrium(7)|kidney(3)|large_intestine(9)|lung(17)|ovary(4)|skin(7)|urinary_tract(1)	51					Linaclotide(DB08890)	ACCCCGGCCTGTAATATCATT	0.383																																						ENST00000261170.3																			0				breast(3)|endometrium(7)|kidney(3)|large_intestine(9)|lung(17)|ovary(4)|skin(7)|urinary_tract(1)	51						c.(1273-1275)aCa>aAa		guanylate cyclase 2C (heat stable enterotoxin receptor)							106	103	104					12																	14822664		2203	4300	6503	SO:0001583	missense	2984				intracellular signal transduction|receptor guanylyl cyclase signaling pathway	integral to membrane	ATP binding|GTP binding|guanylate cyclase activity|protein binding|protein kinase activity|receptor activity	g.chr12:14822664G>T		CCDS8664.1	12p12	2008-08-18			ENSG00000070019	ENSG00000070019			4688	protein-coding gene	gene with protein product		601330		GUC2C		8661067	Standard	NM_004963		Approved	STAR	uc001rcd.3	P25092	OTTHUMG00000168732	ENST00000261170.3:c.1274C>A	12.37:g.14822664G>T	ENSP00000261170:p.Thr425Lys					RP11-174G6.1_ENST00000501178.2_RNA	p.T425K	NM_004963.3	NP_004954.2	P25092	GUC2C_HUMAN			10	1410	-			425					B2RMY6	Missense_Mutation	SNP	ENST00000261170.3	37	c.1274C>A	CCDS8664.1	.	.	.	.	.	.	.	.	.	.	G	14.83	2.651291	0.47362	.	.	ENSG00000070019	ENST00000261170	T	0.80393	-1.37	5.4	3.44	0.39384	.	0.248053	0.48286	D	0.000193	T	0.63117	0.2484	N	0.08118	0	0.09310	N	1	B	0.13594	0.008	B	0.12837	0.008	T	0.59989	-0.7350	10	0.72032	D	0.01	.	11.3791	0.49746	0.0:0.0:0.6763:0.3237	.	425	P25092	GUC2C_HUMAN	K	425	ENSP00000261170:T425K	ENSP00000261170:T425K	T	-	2	0	GUCY2C	14713931	0.957000	0.32711	0.037000	0.18230	0.772000	0.43724	2.577000	0.46042	1.382000	0.46385	0.655000	0.94253	ACA		0.383	GUCY2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400835.1			4	148	1	0	0.00909568	1	0.0092673	4	148					T	14822664	G	T	14822664	3	4	76	1	0	0	0	0	1	0	0	0	6896	1377	48	5	2019	5	GUCY2C	12	14822664	Missense_Mutation	SNP	G	TCGA-EJ-5532-01A-01D-1576-08	8650499	14822664	119029231	29	3997											
NAA25	80018	broad.mit.edu	37	chr12	112516059	112516059	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aaacgttccaggatcatataAtaaagttcaaccttacagaa	18	10	5	8	1	2	1	2	0	0	1	3	2	3	2	2	1	3	2	2	1	8	6			TCGA-EJ-5532-01A-01D-1576-08	TCGA-EJ-5532-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64b492d0-73c0-4de0-bad1-5ef62275b035	d441d979-16c2-4638-a963-550f1bffd4e8	g.chr12:112516059A>G	ENST00000261745.4	-	7	845	c.597T>C	c.(595-597)taT>taC	p.Y199Y		NM_024953.3	NP_079229.2	Q14CX7	NAA25_HUMAN	N(alpha)-acetyltransferase 25, NatB auxiliary subunit	199						cytoplasm (GO:0005737)		p.Y199Y(1)		autonomic_ganglia(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(1)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	46						GGATCATATAATAAAGTTCAA	0.299																																						ENST00000261745.4																			1	Substitution - coding silent(1)	p.Y199Y(1)	prostate(1)	autonomic_ganglia(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(1)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	46						c.(595-597)taT>taC		N(alpha)-acetyltransferase 25, NatB auxiliary subunit							54	57	56					12																	112516059		2202	4296	6498	SO:0001819	synonymous_variant	80018					cytoplasm	protein binding	g.chr12:112516059A>G	AB054990	CCDS9159.1	12q24.13	2013-10-11	2010-01-14	2010-01-14		ENSG00000111300		"N(alpha)-acetyltransferase subunits"	25783	protein-coding gene	gene with protein product		612755	"chromosome 12 open reading frame 30"	C12orf30		19660095	Standard	NM_024953		Approved	FLJ13089	uc001ttm.3	Q14CX7	OTTHUMG00000169638	ENST00000261745.4:c.597T>C	12.37:g.112516059A>G							p.Y199Y	NM_024953.3	NP_079229.2	Q14CX7	NAA25_HUMAN			7	845	-			199					A0JLU7|Q6MZH1|Q7Z4N6|Q9H911	Silent	SNP	ENST00000261745.4	37	c.597T>C	CCDS9159.1																																																																																				0.299	NAA25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405205.1	NM_024953		7	163	0	0	0	1	0	7	163					G	112516059	A	G	112516059	2	3	76	1	0	0	0	0	0	0	0	1	10121	108	4	4		4	NAA25	12	112516059	Silent	SNP	A	TCGA-EJ-5532-01A-01D-1576-08	97693395	112516059	21335836	30	3998											
MTUS2	23281	broad.mit.edu	37	chr13	29600584	29600584	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtgcacgcttgttgaacacGtcccccaaagtgcctgacaa	11	8	9	13	2	0	2	0	2	0	0	1	2	1	2	3	0	3	3	3	0	3	2			TCGA-EJ-5532-01A-01D-1576-08	TCGA-EJ-5532-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64b492d0-73c0-4de0-bad1-5ef62275b035	d441d979-16c2-4638-a963-550f1bffd4e8	g.chr13:29600584G>A	ENST00000431530.3	+	1	1837	c.1779G>A	c.(1777-1779)acG>acA	p.T593T		NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN	microtubule associated tumor suppressor candidate 2	583						cytoplasm (GO:0005737)|microtubule (GO:0005874)	microtubule binding (GO:0008017)|protein homodimerization activity (GO:0042803)	p.T593T(2)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						TGTTGAACACGTCCCCCAAAG	0.552																																						ENST00000431530.3																			2	Substitution - coding silent(2)	p.T593T(2)	prostate(1)|endometrium(1)	NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						c.(1777-1779)acG>acA		microtubule associated tumor suppressor candidate 2							69	73	72					13																	29600584		1980	4159	6139	SO:0001819	synonymous_variant	23281					cytoplasm|microtubule	microtubule binding|protein homodimerization activity	g.chr13:29600584G>A	AB018317	CCDS41874.1, CCDS45022.1	13q12.3	2013-01-17	2009-10-20	2009-10-20	ENSG00000132938	ENSG00000132938			20595	protein-coding gene	gene with protein product	"+TIP of 150 kDa", "cardiac zipper protein"		"KIAA0774"	KIAA0774		19543227	Standard	NM_001033602		Approved	TIP150, CAZIP, ICIS	uc001usl.4	Q5JR59	OTTHUMG00000016657	ENST00000431530.3:c.1779G>A	13.37:g.29600584G>A							p.T593T	NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN			1	1837	+			583					A7E292|B4DF81|O94872|Q08E97|Q5JQR3|Q8N5E2	Silent	SNP	ENST00000431530.3	37	c.1779G>A	CCDS45022.1																																																																																				0.552	MTUS2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000044336.3	XM_166270		22	68	0	0	0	1	0	22	68					A	29600584	G	A	29600584	2	1	76	1	0	0	0	0	0	0	0	1	9966	1132	40	1		1	MTUS2	13	29600584	Silent	SNP	G	TCGA-EJ-5532-01A-01D-1576-08		29600584	85569294	31	3999											
FBN1	2200	broad.mit.edu	37	chr15	48736776	48736776	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagactgtatccaggtgggCaaatgcatctgtaggaccca	12	8	12	9	0	1	1	0	0	1	1	2	3	2	2	2	3	1	4	2	3	4	2			TCGA-EJ-5532-01A-01D-1576-08	TCGA-EJ-5532-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64b492d0-73c0-4de0-bad1-5ef62275b035	d441d979-16c2-4638-a963-550f1bffd4e8	g.chr15:48736776C>A	ENST00000316623.5	-	49	6454	c.5999G>T	c.(5998-6000)tGc>tTc	p.C2000F		NM_000138.4	NP_000129	P35555	FBN1_HUMAN	fibrillin 1	2000	EGF-like 34; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|kidney development (GO:0001822)|sequestering of BMP in extracellular matrix (GO:0035582)|sequestering of TGFbeta in extracellular matrix (GO:0035583)|skeletal system development (GO:0001501)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)	p.C2000F(1)		NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		TCCAGGTGGGCAAATGCATCT	0.433																																						ENST00000316623.5																			1	Substitution - Missense(1)	p.C2000F(1)	prostate(1)	NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139	GRCh37	CM077270	FBN1	M		c.(5998-6000)tGc>tTc		fibrillin 1							159	146	150					15																	48736776		2198	4296	6494	SO:0001583	missense	2200				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding	g.chr15:48736776C>A	X63556	CCDS32232.1	15q21.1	2014-09-17	2006-04-25			ENSG00000166147			3603	protein-coding gene	gene with protein product	"Marfan syndrome"	134797	"fibrillin 1 (Marfan syndrome)"	FBN, MFS1, WMS		10036187, 12525539	Standard	NM_000138		Approved	MASS, OCTD, SGS	uc001zwx.2	P35555		ENST00000316623.5:c.5999G>T	15.37:g.48736776C>A	ENSP00000325527:p.Cys2000Phe						p.C2000F	NM_000138.4	NP_000129.3	P35555	FBN1_HUMAN		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)	49	6454	-		all_lung(180;0.00279)	2000			EGF-like 34; calcium-binding.		B2RUU0|D2JYH6|Q15972|Q75N87	Missense_Mutation	SNP	ENST00000316623.5	37	c.5999G>T	CCDS32232.1	.	.	.	.	.	.	.	.	.	.	C	29.5	5.011800	0.93346	.	.	ENSG00000166147	ENST00000316623;ENST00000389087;ENST00000544030	D	0.99319	-5.74	6.07	6.07	0.98685	EGF-like region, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	D	0.000000	D	0.99536	0.9834	H	0.99312	4.51	0.80722	D	1	P	0.50369	0.934	P	0.47206	0.541	D	0.98521	1.0623	10	0.87932	D	0	.	20.2544	0.98414	0.0:1.0:0.0:0.0	.	2000	P35555	FBN1_HUMAN	F	2000;568;890	ENSP00000325527:C2000F	ENSP00000325527:C2000F	C	-	2	0	FBN1	46524068	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.349000	0.79376	2.885000	0.99019	0.655000	0.94253	TGC		0.433	FBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417355.1			58	118	1	0	6.3237e-29	1	6.8296e-29	58	118					A	48736776	C	A	48736776	3	1	76	1	0	0	0	0	1	0	0	0	5702	710	25	5	2688	5	FBN1	15	48736776	Missense_Mutation	SNP	C	TCGA-EJ-5532-01A-01D-1576-08		48736776	53794616	32	4000											
DMXL2	23312	broad.mit.edu	37	chr15	51855614	51855614	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aaatattcaccatcaggagaCcattccatcaaatgtacaga	17	9	5	10	0	3	2	3	0	0	2	4	3	4	2	3	1	1	1	3	1	4	4			TCGA-EJ-5532-01A-01D-1576-08	TCGA-EJ-5532-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64b492d0-73c0-4de0-bad1-5ef62275b035	d441d979-16c2-4638-a963-550f1bffd4e8	g.chr15:51855614C>T	ENST00000251076.5	-	6	818	c.531G>A	c.(529-531)tgG>tgA	p.W177*	DMXL2_ENST00000543779.2_Nonsense_Mutation_p.W177*|DMXL2_ENST00000449909.3_Nonsense_Mutation_p.W177*|DMXL2_ENST00000560421.1_5'UTR	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	177						cell junction (GO:0030054)|extracellular space (GO:0005615)|membrane (GO:0016020)|synaptic vesicle (GO:0008021)	Rab GTPase binding (GO:0017137)	p.W177*(1)		breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		CATCAGGAGACCATTCCATCA	0.308																																						ENST00000251076.5																			1	Substitution - Nonsense(1)	p.W177*(1)	prostate(1)	breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101						c.(529-531)tgG>tgA		Dmx-like 2							70	67	68					15																	51855614		2195	4291	6486	SO:0001587	stop_gained	23312					cell junction|synaptic vesicle membrane	Rab GTPase binding	g.chr15:51855614C>T	AB020663	CCDS10141.1, CCDS53945.1, CCDS53946.1	15q21.2	2013-01-10			ENSG00000104093	ENSG00000104093		"WD repeat domain containing"	2938	protein-coding gene	gene with protein product	"rabconnectin 3"	612186					Standard	NM_001174116		Approved	RC3, KIAA0856	uc010ufy.2	Q8TDJ6	OTTHUMG00000131749	ENST00000251076.5:c.531G>A	15.37:g.51855614C>T	ENSP00000251076:p.Trp177*					DMXL2_ENST00000449909.3_Nonsense_Mutation_p.W177*|DMXL2_ENST00000543779.2_Nonsense_Mutation_p.W177*|DMXL2_ENST00000560421.1_5'UTR	p.W177*	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN		all cancers(107;0.00494)	6	818	-			177					B2RTR3|B7ZMH3|F5GWF1|O94938	Nonsense_Mutation	SNP	ENST00000251076.5	37	c.531G>A	CCDS10141.1	.	.	.	.	.	.	.	.	.	.	C	36	5.597826	0.96602	.	.	ENSG00000104093	ENST00000251076;ENST00000543779;ENST00000449909	.	.	.	5.37	5.37	0.77165	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.31617	T	0.26	.	18.8915	0.92406	0.0:1.0:0.0:0.0	.	.	.	.	X	177	.	ENSP00000251076:W177X	W	-	3	0	DMXL2	49642906	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.512000	0.60469	2.796000	0.96246	0.585000	0.79938	TGG		0.308	DMXL2-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254671.2	NM_015263		3	72	0	0	0	1	0	3	72					T	51855614	C	T	51855614	4	4	76	1	0	0	0	0	0	1	0	0	4595	508	18	3	8734	3	DMXL2	15	51855614	Nonsense_Mutation	SNP	C	TCGA-EJ-5532-01A-01D-1576-08	3118838	51855614	50675778	33	4001											
RUNDC2A	92017	broad.mit.edu	37	chr16	12136839	12136839	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcgccacatcgcctcagaCgtgggccggggtcgcgcctg	4	6	15	16	6	1	1	1	0	0	1	3	1	1	1	4	3	1	0	4	3	0	0	rs371965178		TCGA-EJ-5532-01A-01D-1576-08	TCGA-EJ-5532-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64b492d0-73c0-4de0-bad1-5ef62275b035	d441d979-16c2-4638-a963-550f1bffd4e8	g.chr16:12136839C>T	ENST00000566228.1	+	5	402	c.333C>T	c.(331-333)gaC>gaT	p.D111D	SNX29_ENST00000568359.1_3'UTR	NM_032167.3	NP_115543.3	Q8TEQ0	SNX29_HUMAN	sorting nexin 29	111	RUN. {ECO:0000255|PROSITE- ProRule:PRU00178}.					extracellular vesicular exosome (GO:0070062)	phosphatidylinositol binding (GO:0035091)	p.D111D(1)		endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	7						TCGCCTCAGACGTGGGCCGGG	0.652																																						ENST00000566228.1																			1	Substitution - coding silent(1)	p.D111D(1)	prostate(1)	endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	7						c.(331-333)gaC>gaT		sorting nexin 29		C		1,4393	2.1+/-5.4	0,1,2196	42	35	37		333	-1.1	1	16		37	0,8600		0,0,4300	no	coding-synonymous	SNX29	NM_032167.3		0,1,6496	TT,TC,CC		0.0,0.0228,0.0077		111/376	12136839	1,12993	2197	4300	6497	SO:0001819	synonymous_variant	92017				cell communication		phosphatidylinositol binding	g.chr16:12136839C>T	AK074072	CCDS10553.2	16p13.13-p13.12	2011-08-16			ENSG00000048471	ENSG00000048471		"Sorting nexins"	30542	protein-coding gene	gene with protein product			"RUN domain containing 2A"	RUNDC2A		16782399	Standard	XM_005255682		Approved	FLJ12363	uc002dby.5	Q8TEQ0		ENST00000566228.1:c.333C>T	16.37:g.12136839C>T						SNX29_ENST00000568359.1_3'UTR	p.D111D	NM_032167.3	NP_115543.3	Q8TEQ0	SNX29_HUMAN			5	402	+			0					B5MDW2|Q8N2X2|Q9HA26	Silent	SNP	ENST00000566228.1	37	c.333C>T	CCDS10553.2																																																																																				0.652	SNX29-005	PUTATIVE	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422622.1			3	34	0	0	0	1	0	3	34					T	12136839	C	T	12136839	2	4	76	1	0	0	0	0	0	0	0	1	13743	535	19	1		1	RUNDC2A	16	12136839	Silent	SNP	C	TCGA-EJ-5532-01A-01D-1576-08		12136839	78217914	34	4002											
CCDC144A	9720	broad.mit.edu	37	chr17	16612678	16612678	+	Frame_Shift_Del	DEL	T	T	-																															agcaaggaacccagaagtggTtatggttgaaatgaaagaag																										TCGA-EJ-5532-01A-01D-1576-08	TCGA-EJ-5532-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64b492d0-73c0-4de0-bad1-5ef62275b035	d441d979-16c2-4638-a963-550f1bffd4e8	g.chr17:16612678delT	ENST00000360524.8	+	5	1383	c.1307delT	c.(1306-1308)gttfs	p.V436fs	CCDC144A_ENST00000443444.2_Frame_Shift_Del_p.V436fs|RP11-219A15.1_ENST00000448331.3_Frame_Shift_Del_p.V436fs|CCDC144A_ENST00000340621.5_Frame_Shift_Del_p.V435fs|CCDC144A_ENST00000399273.1_Frame_Shift_Del_p.V436fs|CCDC144A_ENST00000456009.1_Intron|RN7SL620P_ENST00000580704.1_RNA	NM_014695.1	NP_055510.1	A2RUR9	C144A_HUMAN	coiled-coil domain containing 144A	436																	CCAGAAGTGGTTATGGTTGAA	0.353																																						ENST00000443444.2																			0											c.(1306-1308)gtfs		coiled-coil domain containing 144A							64	52	56					17																	16612678		1808	4057	5865	SO:0001589	frameshift_variant	9720							g.chr17:16612678delT	BC133019	CCDS45621.1	17p11.2	2008-10-23			ENSG00000170160	ENSG00000170160			29072	protein-coding gene	gene with protein product						9628581, 11997339	Standard	NM_014695		Approved	KIAA0565, FLJ43983	uc002gqk.1	A2RUR9	OTTHUMG00000059178	ENST00000360524.8:c.1307delT	17.37:g.16612678delT	ENSP00000353717:p.Val436fs					CCDC144A_ENST00000399273.1_Frame_Shift_Del_p.V436fs|CCDC144A_ENST00000340621.5_Frame_Shift_Del_p.V435fs|CCDC144A_ENST00000360524.8_Frame_Shift_Del_p.V436fs|CCDC144A_ENST00000456009.1_Intron|RP11-219A15.1_ENST00000448331.3_Frame_Shift_Del_p.V436fs	p.V436fs			A2RUR9	C144A_HUMAN			5	1447	+			436					O60311|Q6ZU57	Frame_Shift_Del	DEL	ENST00000360524.8	37	c.1307delT	CCDS45621.1																																																																																				0.353	CCDC144A-013	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000444093.1			27	47						27	47	---	---	---	---	-	16612678	T	-	16612678	7	5	76	1	0	1	0	1	0	0	0	0	2777	1725	60	0	1325	0	CCDC144A	17	16612678	Frame_Shift_Del	DEL	T	TCGA-EJ-5532-01A-01D-1576-08		16612678	64582532	35	4003											
USP22	23326	broad.mit.edu	37	chr17	20910262	20910262	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agggggaaggacacatacgtGgtgatcttccgccgcagctt	9	8	14	10	3	1	1	0	1	1	0	2	3	2	3	2	4	2	2	2	4	2	3			TCGA-EJ-5532-01A-01D-1576-08	TCGA-EJ-5532-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64b492d0-73c0-4de0-bad1-5ef62275b035	d441d979-16c2-4638-a963-550f1bffd4e8	g.chr17:20910262G>A	ENST00000261497.4	-	10	1472	c.1269C>T	c.(1267-1269)acC>acT	p.T423T	USP22_ENST00000455117.2_Intron|USP22_ENST00000537526.2_Silent_p.T411T	NM_015276.1	NP_056091.1	Q9UPT9	UBP22_HUMAN	ubiquitin specific peptidase 22	423	USP.				cell cycle (GO:0007049)|chromatin organization (GO:0006325)|embryo development (GO:0009790)|histone deubiquitination (GO:0016578)|histone H4 acetylation (GO:0043967)|histone ubiquitination (GO:0016574)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of transcription, DNA-templated (GO:0045893)|protein deubiquitination (GO:0016579)|transcription, DNA-templated (GO:0006351)|ubiquitin-dependent protein catabolic process (GO:0006511)	SAGA complex (GO:0000124)	enzyme binding (GO:0019899)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|transcription coactivator activity (GO:0003713)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)	p.T645T(1)		endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)	15						ACACATACGTGGTGATCTTCC	0.547																																						ENST00000261497.4																			1	Substitution - coding silent(1)	p.T645T(1)	prostate(1)	endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)	15						c.(1267-1269)acC>acT		ubiquitin specific peptidase 22							40	42	42					17																	20910262		1942	4144	6086	SO:0001819	synonymous_variant	23326				cell cycle|embryo development|histone deubiquitination|histone H4 acetylation|histone ubiquitination|positive regulation of mitotic cell cycle|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	SAGA complex	ligand-dependent nuclear receptor transcription coactivator activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding	g.chr17:20910262G>A	AB028986	CCDS42285.1	17p11.2	2006-11-24	2005-08-08		ENSG00000124422	ENSG00000124422		"Ubiquitin-specific peptidases"	12621	protein-coding gene	gene with protein product		612116	"ubiquitin specific protease 22", "ubiquitin specific peptidase 3-like"	USP3L		12838346	Standard	NM_015276		Approved	KIAA1063	uc002gym.4	Q9UPT9	OTTHUMG00000133621	ENST00000261497.4:c.1269C>T	17.37:g.20910262G>A						USP22_ENST00000537526.2_Silent_p.T411T|USP22_ENST00000455117.2_Intron	p.T423T	NM_015276.1	NP_056091.1	Q9UPT9	UBP22_HUMAN			10	1472	-			423					A0JNS3|Q2NLE2|Q6MZY4|Q8TBS8|Q96IW5	Silent	SNP	ENST00000261497.4	37	c.1269C>T	CCDS42285.1																																																																																				0.547	USP22-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444169.1			4	25	0	0	0	1	0	4	25					A	20910262	G	A	20910262	2	1	76	1	0	0	0	0	0	0	0	1	17051	1335	47	3		3	USP22	17	20910262	Silent	SNP	G	TCGA-EJ-5532-01A-01D-1576-08	4297584	20910262	60284948	36	4004											
ST6GALNAC2	10610	broad.mit.edu	37	chr17	74562331	74562331	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaatttccagtagttgcttGtgatgaatccataggcactg	12	13	9	7	0	0	2	0	2	0	0	2	2	2	2	2	1	1	4	2	1	5	5			TCGA-EJ-5532-01A-01D-1576-08	TCGA-EJ-5532-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64b492d0-73c0-4de0-bad1-5ef62275b035	d441d979-16c2-4638-a963-550f1bffd4e8	g.chr17:74562331G>A	ENST00000225276.5	-	9	1299	c.980C>T	c.(979-981)aCa>aTa	p.T327I		NM_006456.2	NP_006447.2	Q9UJ37	SIA7B_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 2	327					cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)	sialyltransferase activity (GO:0008373)	p.T327I(1)		NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	11						GTAGTTGCTTGTGATGAATCC	0.448																																						ENST00000225276.5																			1	Substitution - Missense(1)	p.T327I(1)	prostate(1)	NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	11						c.(979-981)aCa>aTa		ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 2							159	146	151					17																	74562331		2203	4300	6503	SO:0001583	missense	10610				protein glycosylation	integral to Golgi membrane	sialyltransferase activity	g.chr17:74562331G>A	U14550	CCDS11747.1	17q25.1	2013-03-01	2003-12-05	2005-02-07	ENSG00000070731	ENSG00000070731	2.4.99.7	"Sialyltransferases"	10867	protein-coding gene	gene with protein product		610137	"sialyltransferase 7 ((alpha-N-acetylneuraminyl-2,3-beta-galactosyl-1,3)-N-acetyl galactosaminide alpha-2,6-sialyltransferase)", "sialyltransferase-like 1"	SIAT7, SIAT7B, SIATL1		11984005	Standard	NM_006456		Approved	ST6GalNAII, STHM	uc002jsg.4	Q9UJ37	OTTHUMG00000180301	ENST00000225276.5:c.980C>T	17.37:g.74562331G>A	ENSP00000225276:p.Thr327Ile						p.T327I	NM_006456.2	NP_006447.2	Q9UJ37	SIA7B_HUMAN			9	1299	-			327					Q12971	Missense_Mutation	SNP	ENST00000225276.5	37	c.980C>T	CCDS11747.1	.	.	.	.	.	.	.	.	.	.	G	24.4	4.530261	0.85706	.	.	ENSG00000070731	ENST00000225276	T	0.30714	1.52	5.45	5.45	0.79879	.	0.000000	0.85682	D	0.000000	T	0.66436	0.2789	M	0.92833	3.35	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.74659	-0.3591	10	0.62326	D	0.03	-12.8339	18.0627	0.89382	0.0:0.0:1.0:0.0	.	327	Q9UJ37	SIA7B_HUMAN	I	327	ENSP00000225276:T327I	ENSP00000225276:T327I	T	-	2	0	ST6GALNAC2	72073926	1.000000	0.71417	0.961000	0.40146	0.841000	0.47740	8.622000	0.90953	2.562000	0.86427	0.655000	0.94253	ACA		0.448	ST6GALNAC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450650.1	NM_006456		78	155	0	0	0	1	0	78	155					A	74562331	G	A	74562331	3	1	76	1	0	0	0	0	1	0	0	0	15223	1377	48	3	148	3	ST6GALNAC2	17	74562331	Missense_Mutation	SNP	G	TCGA-EJ-5532-01A-01D-1576-08	53652069	74562331	6632879	37	4005											
MYO1F	4542	broad.mit.edu	37	chr19	8604860	8604860	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagccggcggtgctggggcGccccttcttgtctccatcca	3	9	14	15	3	2	0	0	0	2	0	4	1	3	1	5	5	2	1	5	5	0	2	rs375221696		TCGA-EJ-5532-01A-01D-1576-08	TCGA-EJ-5532-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64b492d0-73c0-4de0-bad1-5ef62275b035	d441d979-16c2-4638-a963-550f1bffd4e8	g.chr19:8604860G>A	ENST00000338257.8	-	16	1930	c.1663C>T	c.(1663-1665)Cgc>Tgc	p.R555C		NM_012335.3	NP_036467.2	O00160	MYO1F_HUMAN	myosin IF	555	Myosin motor.				defense response to Gram-positive bacterium (GO:0050830)|negative regulation of cell adhesion (GO:0007162)|neutrophil degranulation (GO:0043312)|positive regulation of cell migration (GO:0030335)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of innate immune response (GO:0045088)	cortical actin cytoskeleton (GO:0030864)|filamentous actin (GO:0031941)|unconventional myosin complex (GO:0016461)	actin binding (GO:0003779)|ATP binding (GO:0005524)|motor activity (GO:0003774)	p.R555C(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(7)|lung(13)|ovary(3)|prostate(3)|skin(3)|urinary_tract(1)	42						GTGCTGGGGCGCCCCTTCTTG	0.637																																						ENST00000338257.8																			1	Substitution - Missense(1)	p.R555C(1)	prostate(1)	breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(7)|lung(13)|ovary(3)|prostate(3)|skin(3)|urinary_tract(1)	42						c.(1663-1665)Cgc>Tgc		myosin IF		G	CYS/ARG	0,3806		0,0,1903	38	42	41		1663	5	1	19		41	1,8225		0,1,4112	no	missense	MYO1F	NM_012335.3	180	0,1,6015	AA,AG,GG		0.0122,0.0,0.0083	probably-damaging	555/1099	8604860	1,12031	1903	4113	6016	SO:0001583	missense	4542					unconventional myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	g.chr19:8604860G>A	X98411	CCDS42494.1	19p13.3-p13.2	2011-09-27			ENSG00000142347	ENSG00000142347		"Myosins / Myosin superfamily : Class I"	7600	protein-coding gene	gene with protein product		601480				9119401, 8884266	Standard	NM_012335		Approved		uc002mkg.3	O00160	OTTHUMG00000156005	ENST00000338257.8:c.1663C>T	19.37:g.8604860G>A	ENSP00000344871:p.Arg555Cys						p.R555C	NM_012335.3	NP_036467.2	O00160	MYO1F_HUMAN			16	1930	-			555			Myosin head-like.		Q8WWN7	Missense_Mutation	SNP	ENST00000338257.8	37	c.1663C>T	CCDS42494.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.951645	0.73787	0.0	1.22E-4	ENSG00000142347	ENST00000305795;ENST00000338257	D	0.88046	-2.33	5.01	5.01	0.66863	Myosin head, motor domain (2);	0.000000	0.64402	D	0.000001	D	0.96266	0.8782	H	0.98426	4.23	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	D	0.98113	1.0421	10	0.87932	D	0	.	16.8874	0.86079	0.0:0.0:1.0:0.0	.	555	O00160	MYO1F_HUMAN	C	600;555	ENSP00000344871:R555C	ENSP00000304899:R600C	R	-	1	0	MYO1F	8510860	1.000000	0.71417	1.000000	0.80357	0.927000	0.56198	4.412000	0.59787	2.335000	0.79485	0.591000	0.81541	CGC		0.637	MYO1F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342716.2			20	46	0	0	0	1	0	20	46					A	8604860	G	A	8604860	3	1	76	1	0	0	0	0	1	0	0	0	10073	1087	38	1	1685	1	MYO1F	19	8604860	Missense_Mutation	SNP	G	TCGA-EJ-5532-01A-01D-1576-08		8604860	50524123	38	4006											
SIGLEC12	89858	broad.mit.edu	37	chr19	52003566	52003566	+	Intron	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cctgggacgctgtggagaaaCgagggtcagcccagccccca	9	4	14	14	2	1	1	1	0	0	1	1	4	1	2	4	3	3	1	4	3	1	0	rs542113322		TCGA-EJ-5532-01A-01D-1576-08	TCGA-EJ-5532-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64b492d0-73c0-4de0-bad1-5ef62275b035	d441d979-16c2-4638-a963-550f1bffd4e8	g.chr19:52003566C>T	ENST00000291707.3	-	2	483				SIGLEC12_ENST00000598614.1_Missense_Mutation_p.R21H	NM_053003.2	NP_443729.1	Q96PQ1	SIG12_HUMAN	sialic acid binding Ig-like lectin 12 (gene/pseudogene)						cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			NS(2)|biliary_tract(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(1)|lung(23)|ovary(4)|prostate(2)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)	61		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.0102)		TGTGGAGAAACGAGGGTCAGC	0.607													N|||	1	0.000199681	0	0	5008	,	,		17928	0		0	False		,,,				2504	0.001					ENST00000598614.1																			0				NS(2)|biliary_tract(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(1)|lung(23)|ovary(4)|prostate(2)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)	61						c.(61-63)cGt>cAt		sialic acid binding Ig-like lectin 12 (gene/pseudogene)							54	49	51					19																	52003566		2203	4300	6503	SO:0001627	intron_variant	89858				cell adhesion	integral to membrane	sugar binding	g.chr19:52003566C>T	AF282256	CCDS12833.1, CCDS59416.1	19q13.41	2013-01-29	2011-06-29	2004-10-20	ENSG00000254521	ENSG00000254521		"Sialic acid binding Ig-like lectins", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	15482	protein-coding gene	gene with protein product		606094	"SIGLEC-like 1", "sialic acid binding Ig-like lectin 12"	SIGLECL1		11409877, 11328818, 21555517	Standard	NM_053003		Approved	SLG, S2V, Siglec-XII, Siglec-12, Siglec-L1	uc002pwx.1	Q96PQ1	OTTHUMG00000165524	ENST00000291707.3:c.428-12G>A	19.37:g.52003566C>T						SIGLEC12_ENST00000291707.3_Intron	p.R21H	NM_033329.1	NP_201586.1	Q96PQ1	SIG12_HUMAN		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.0102)	1	61	-		all_neural(266;0.0199)	0			Ig-like V-type 1.		Q8IYH7	Missense_Mutation	SNP	ENST00000291707.3	37	c.62G>A	CCDS12833.1																																																																																				0.607	SIGLEC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384641.2	NM_053003		16	38	0	0	0	1	0	16	38					T	52003566	C	T	52003566	1	4	76	0	1	0	0	0	0	0	0	0	14308	536	19	1		1	SIGLEC12	19	52003566	Intron	SNP	C	TCGA-EJ-5532-01A-01D-1576-08	43398706	52003566	7125417	39	4007											
LILRB1	10859	broad.mit.edu	37	chr19	55148263	55148263	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agacgggaggcaactgagccTcctccatcccaggaagggcc	10	4	13	14	1	0	2	0	1	0	1	3	4	3	4	5	4	2	1	5	4	2	0			TCGA-EJ-5532-01A-01D-1576-08	TCGA-EJ-5532-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64b492d0-73c0-4de0-bad1-5ef62275b035	d441d979-16c2-4638-a963-550f1bffd4e8	g.chr19:55148263T>G	ENST00000396331.1	+	16	2244	c.1887T>G	c.(1885-1887)ccT>ccG	p.P629P	LILRB1_ENST00000396332.4_Silent_p.P630P|LILRB1_ENST00000448689.1_3'UTR|AC009892.10_ENST00000456337.1_Intron|LILRB1_ENST00000434867.2_Silent_p.P629P|LILRB1_ENST00000462628.1_3'UTR|LILRB1_ENST00000427581.2_Silent_p.P680P|LILRB1_ENST00000418536.2_Silent_p.P613P|LILRB1_ENST00000396321.2_Silent_p.P629P|LILRB1_ENST00000396315.1_Silent_p.P631P|LILRB1_ENST00000396317.1_Silent_p.P613P|LILRB1_ENST00000324602.7_Silent_p.P631P|LILRB1_ENST00000396327.3_Silent_p.P630P	NM_006669.3	NP_006660.3	Q8NHL6	LIRB1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1	629					cellular response to lipopolysaccharide (GO:0071222)|defense response to virus (GO:0051607)|dendritic cell differentiation (GO:0097028)|Fc receptor mediated inhibitory signaling pathway (GO:0002774)|immune response-inhibiting cell surface receptor signaling pathway (GO:0002767)|interferon-gamma production (GO:0032609)|interferon-gamma secretion (GO:0072643)|negative regulation of alpha-beta T cell activation (GO:0046636)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of CD8-positive, alpha-beta T cell activation (GO:2001186)|negative regulation of cell cycle (GO:0045786)|negative regulation of cytokine secretion involved in immune response (GO:0002740)|negative regulation of dendritic cell apoptotic process (GO:2000669)|negative regulation of dendritic cell differentiation (GO:2001199)|negative regulation of endocytosis (GO:0045806)|negative regulation of interferon-beta secretion (GO:0035548)|negative regulation of interferon-gamma biosynthetic process (GO:0045077)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-10 secretion (GO:2001180)|negative regulation of interleukin-12 secretion (GO:2001183)|negative regulation of mononuclear cell proliferation (GO:0032945)|negative regulation of natural killer cell mediated cytotoxicity (GO:0045953)|negative regulation of osteoclast development (GO:2001205)|negative regulation of serotonin secretion (GO:0014063)|negative regulation of T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell (GO:2001189)|negative regulation of T cell mediated cytotoxicity (GO:0001915)|negative regulation of T cell proliferation (GO:0042130)|negative regulation of transforming growth factor-beta secretion (GO:2001202)|negative regulation of tumor necrosis factor biosynthetic process (GO:0042536)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cytolysis (GO:0045919)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of gamma-delta T cell activation involved in immune response (GO:2001193)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|receptor internalization (GO:0031623)|regulation of immune response (GO:0050776)|response to virus (GO:0009615)|signal transduction (GO:0007165)|T cell proliferation involved in immune response (GO:0002309)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	HLA-A specific inhibitory MHC class I receptor activity (GO:0030107)|HLA-B specific inhibitory MHC class I receptor activity (GO:0030109)|MHC class I protein binding (GO:0042288)|MHC class I receptor activity (GO:0032393)|protein homodimerization activity (GO:0042803)|protein phosphatase 1 binding (GO:0008157)|SH2 domain binding (GO:0042169)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	74				GBM - Glioblastoma multiforme(193;0.0188)		CAACTGAGCCTCCTCCATCCC	0.652										HNSCC(37;0.09)																												ENST00000396331.1																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	74						c.(1885-1887)ccT>ccG		leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1							99	85	90					19																	55148263		2203	4300	6503	SO:0001819	synonymous_variant	0				regulation of immune response|response to virus	integral to membrane|plasma membrane	protein phosphatase 1 binding|receptor activity	g.chr19:55148263T>G	AF009220	CCDS42614.1, CCDS42615.1, CCDS42616.1, CCDS42617.1, CCDS62803.1	19q13.4	2013-01-11						"Leukocyte immunoglobulin-like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6605	protein-coding gene	gene with protein product		604811				9285411, 9382880	Standard	XM_006726246		Approved	LIR-1, ILT2, MIR-7, CD85, LIR1, CD85j	uc002qgm.3	Q8NHL6		ENST00000396331.1:c.1887T>G	19.37:g.55148263T>G		HNSCC(37;0.09)				LILRB1_ENST00000324602.7_Silent_p.P631P|LILRB1_ENST00000396327.3_Silent_p.P630P|LILRB1_ENST00000462628.1_3'UTR|LILRB1_ENST00000427581.2_Silent_p.P680P|LILRB1_ENST00000396332.4_Silent_p.P630P|LILRB1_ENST00000434867.2_Silent_p.P629P|LILRB1_ENST00000448689.1_3'UTR|LILRB1_ENST00000418536.2_Silent_p.P613P|LILRB1_ENST00000396315.1_Silent_p.P631P|LILRB1_ENST00000396321.2_Silent_p.P629P|AC009892.10_ENST00000456337.1_Intron|LILRB1_ENST00000396317.1_Silent_p.P613P	p.P629P	NM_006669.3	NP_006660.3	Q8NHL6	LIRB1_HUMAN		GBM - Glioblastoma multiforme(193;0.0188)	16	2244	+			629					A2IXV4|A8MXT0|O75024|O75025|Q8NHJ9|Q8NHK0	Silent	SNP	ENST00000396331.1	37	c.1887T>G	CCDS42617.1																																																																																				0.652	LILRB1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000140796.4			4	65	0	0	0	1	0	4	65					G	55148263	T	G	55148263	2	3	76	1	0	0	0	0	0	0	0	1	8790	1538	54	5		5	LILRB1	19	55148263	Silent	SNP	T	TCGA-EJ-5532-01A-01D-1576-08	3144697	55148263	3980720	40	4008											
STS	412	broad.mit.edu	37	chrX	7223203	7223203	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccaaaggagaaattcatggcGgaagtaatgggatctataaa	17	8	11	5	1	2	1	1	0	1	1	2	4	2	3	1	4	0	1	1	4	7	4			TCGA-EJ-5532-01A-01D-1576-08	TCGA-EJ-5532-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64b492d0-73c0-4de0-bad1-5ef62275b035	d441d979-16c2-4638-a963-550f1bffd4e8	g.chrX:7223203G>A	ENST00000217961.4	+	7	1295	c.1075G>A	c.(1075-1077)Gga>Aga	p.G359R		NM_000351.4	NP_000342.2	P08842	STS_HUMAN	steroid sulfatase (microsomal), isozyme S	359					cellular protein metabolic process (GO:0044267)|epidermis development (GO:0008544)|female pregnancy (GO:0007565)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)|steroid catabolic process (GO:0006706)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|lysosome (GO:0005764)|membrane (GO:0016020)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|steryl-sulfatase activity (GO:0004773)|sulfuric ester hydrolase activity (GO:0008484)	p.G359R(1)		NS(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|prostate(2)|skin(1)	27		Colorectal(8;0.0136)|Medulloblastoma(8;0.184)			Norelgestromin(DB06713)	AATTCATGGCGGAAGTAATGG	0.458									Ichthyosis																													ENST00000217961.4																			1	Substitution - Missense(1)	p.G359R(1)	prostate(1)	NS(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|prostate(2)|skin(1)	27						c.(1075-1077)Gga>Aga		steroid sulfatase (microsomal), isozyme S	Estrone(DB00655)						102	89	94					X																	7223203		2203	4299	6502	SO:0001583	missense	412	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	female pregnancy|steroid catabolic process	endoplasmic reticulum membrane|endosome|Golgi apparatus|integral to membrane|lysosome|microsome|plasma membrane	metal ion binding|steryl-sulfatase activity	g.chrX:7223203G>A	M16505	CCDS14127.1	Xp22.32	2013-06-10	2007-07-19		ENSG00000101846	ENSG00000101846	3.1.6.2	"Arylsulfatase family"	11425	protein-coding gene	gene with protein product	"arylsulfatase C"	300747	"steroid sulfatase (microsomal), arylsulfatase C, isozyme S"	ARSC1			Standard	NM_000351		Approved	ARSC	uc004cry.4	P08842	OTTHUMG00000021102	ENST00000217961.4:c.1075G>A	X.37:g.7223203G>A	ENSP00000217961:p.Gly359Arg						p.G359R	NM_000351.4	NP_000342.2	P08842	STS_HUMAN			7	1295	+		Colorectal(8;0.0136)|Medulloblastoma(8;0.184)	359					B2RA47	Missense_Mutation	SNP	ENST00000217961.4	37	c.1075G>A	CCDS14127.1	.	.	.	.	.	.	.	.	.	.	G	12.88	2.069319	0.36470	.	.	ENSG00000101846	ENST00000217961	D	0.94537	-3.45	3.39	3.39	0.38822	Alkaline phosphatase-like, alpha/beta/alpha (1);Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.000000	0.85682	D	0.000000	D	0.97062	0.9040	M	0.88704	2.975	0.42409	D	0.992597	D	0.89917	1.0	D	0.91635	0.999	D	0.97050	0.9763	10	0.66056	D	0.02	.	10.0635	0.42288	0.0:0.0:1.0:0.0	.	359	P08842	STS_HUMAN	R	359	ENSP00000217961:G359R	ENSP00000217961:G359R	G	+	1	0	STS	7233203	1.000000	0.71417	0.363000	0.25875	0.368000	0.29767	5.739000	0.68622	1.461000	0.47929	0.513000	0.50165	GGA		0.458	STS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055686.1	NM_000351		3	70	0	0	0	1	0	3	70					A	7223203	G	A	7223203	3	1	76	1	0	0	0	0	1	0	0	0	15331	1117	39	2	1101	2	STS	23	7223203	Missense_Mutation	SNP	G	TCGA-EJ-5532-01A-01D-1576-08		7223203	148047357	41	4009											
PRAMEF7	441871	broad.mit.edu	37	chr1	12979764	12979764	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcttggtgcccgagcatccGtcaattaaaggagctggacc	9	9	11	12	2	2	0	1	0	1	0	3	3	3	2	3	3	3	2	3	3	3	2	rs369932937		TCGA-EJ-5542-01A-01D-1576-08	TCGA-EJ-5542-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce0298b4-8456-4369-8916-c951b956dcc6	dd83711f-fea0-42e2-93ca-58faed54db89	g.chr1:12979764G>A	ENST00000361079.2	+	4	1039	c.956G>A	c.(955-957)cGt>cAt	p.R319H	RNU6-1072P_ENST00000384703.1_RNA			Q5VXH5	PRAM7_HUMAN	PRAME family member 7	319					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)			p.R319H(2)		endometrium(2)|kidney(5)|large_intestine(3)|lung(4)|prostate(2)|upper_aerodigestive_tract(2)	18	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		CCGAGCATCCGTCAATTAAAG	0.587																																						ENST00000361079.2																			2	Substitution - Missense(2)	p.R319H(2)	prostate(2)	endometrium(2)|kidney(5)|large_intestine(3)|lung(4)|prostate(2)|upper_aerodigestive_tract(2)	18						c.(955-957)cGt>cAt		PRAME family member 7		G	HIS/ARG	1,4403		0,1,2201	89	82	85		956	-0.3	0	1		85	0,8592		0,0,4296	no	missense	PRAMEF7	NM_001012277.1	29	0,1,6497	AA,AG,GG		0.0,0.0227,0.0077	possibly-damaging	319/475	12979764	1,12995	2202	4296	6498	SO:0001583	missense	441871							g.chr1:12979764G>A		CCDS30593.1	1p36.21	2013-01-17			ENSG00000204510	ENSG00000204510		"-"	28415	protein-coding gene	gene with protein product							Standard	NM_001012277		Approved			Q5VXH5	OTTHUMG00000001982	ENST00000361079.2:c.956G>A	1.37:g.12979764G>A	ENSP00000354371:p.Arg319His						p.R319H						UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)	4	1039	+	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)						B9EIP0	Missense_Mutation	SNP	ENST00000361079.2	37	c.956G>A	CCDS30593.1	.	.	.	.	.	.	.	.	.	.	.	10.93	1.490801	0.26774	2.27E-4	0.0	ENSG00000204510	ENST00000361079;ENST00000330881	T;T	0.09255	3.0;3.0	1.68	-0.352	0.12598	.	0.979768	0.08388	N	0.953488	T	0.09992	0.0245	N	0.15975	0.35	0.09310	N	1	D	0.76494	0.999	P	0.61132	0.884	T	0.23547	-1.0185	10	0.15499	T	0.54	.	1.9777	0.03419	0.3601:0.0:0.3772:0.2627	.	319	Q5VXH5	PRAM7_HUMAN	H	319	ENSP00000354371:R319H;ENSP00000328915:R319H	ENSP00000328915:R319H	R	+	2	0	PRAMEF7	12902351	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-0.739000	0.04866	-0.101000	0.12219	0.306000	0.20318	CGT		0.587	PRAMEF7-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001012277		18	213	0	0	0	0.654019	0	18	213					A	12979764	G	A	12979764	3	1	77	1	0	0	0	0	1	0	0	0	12439	1145	40	1	966	1	PRAMEF7	1	12979764	Missense_Mutation	SNP	G	TCGA-EJ-5542-01A-01D-1576-08		12979764	236270857	1	4010											
FBLIM1	54751	broad.mit.edu	37	chr1	16091554	16091554	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccccgcgccgcgatgtggccGtggcggaggaagtgaggcag	6	4	19	12	6	0	1	0	1	0	0	0	4	0	3	4	5	0	1	4	5	1	0	rs202246562		TCGA-EJ-5542-01A-01D-1576-08	TCGA-EJ-5542-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce0298b4-8456-4369-8916-c951b956dcc6	dd83711f-fea0-42e2-93ca-58faed54db89	g.chr1:16091554G>C	ENST00000375766.3	+	3	716	c.76G>C	c.(76-78)Gtg>Ctg	p.V26L	FBLIM1_ENST00000400773.1_Missense_Mutation_p.V26L|FBLIM1_ENST00000375771.1_Missense_Mutation_p.V26L|FBLIM1_ENST00000441801.2_Missense_Mutation_p.V26L|FBLIM1_ENST00000332305.5_Missense_Mutation_p.V26L	NM_017556.2	NP_060026.2	Q8WUP2	FBLI1_HUMAN	filamin binding LIM protein 1	26	Filamin-binding.|Intrinsically disordered.				cell junction assembly (GO:0034329)|regulation of cell shape (GO:0008360)|regulation of integrin activation (GO:0033623)|single organismal cell-cell adhesion (GO:0016337)	cytosol (GO:0005829)|focal adhesion (GO:0005925)|stress fiber (GO:0001725)	filamin binding (GO:0031005)|zinc ion binding (GO:0008270)	p.V26L(1)		large_intestine(2)|lung(4)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	16		Colorectal(325;0.000257)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.56e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|READ - Rectum adenocarcinoma(331;0.0649)|STAD - Stomach adenocarcinoma(313;0.138)		CGATGTGGCCGTGGCGGAGGA	0.672																																						ENST00000375766.3																			1	Substitution - Missense(1)	p.V26L(1)	prostate(1)	large_intestine(2)|lung(4)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	16						c.(76-78)Gtg>Ctg		filamin binding LIM protein 1							61	60	61					1																	16091554		2203	4299	6502	SO:0001583	missense	54751				cell adhesion|cell junction assembly|regulation of cell shape	cell cortex|cytoskeleton|cytosol|focal adhesion|intracellular membrane-bounded organelle	zinc ion binding	g.chr1:16091554G>C		CCDS163.1, CCDS30609.1, CCDS44064.1	1p36.13	2014-04-07			ENSG00000162458	ENSG00000162458			24686	protein-coding gene	gene with protein product		607747				12679033, 12496242	Standard	XM_005245900		Approved	FBLP-1, CAL, migfilin	uc001axe.1	Q8WUP2	OTTHUMG00000003079	ENST00000375766.3:c.76G>C	1.37:g.16091554G>C	ENSP00000364921:p.Val26Leu					FBLIM1_ENST00000332305.5_Missense_Mutation_p.V26L|FBLIM1_ENST00000441801.2_Missense_Mutation_p.V26L|FBLIM1_ENST00000375771.1_Missense_Mutation_p.V26L|FBLIM1_ENST00000400773.1_Missense_Mutation_p.V26L	p.V26L	NM_017556.2	NP_060026.2	Q8WUP2	FBLI1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.56e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|READ - Rectum adenocarcinoma(331;0.0649)|STAD - Stomach adenocarcinoma(313;0.138)	3	716	+		Colorectal(325;0.000257)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)	26			Filamin-binding.		B3KNY0|Q5VVE0|Q5VVE1|Q8IX23|Q96T00|Q9UFD6	Missense_Mutation	SNP	ENST00000375766.3	37	c.76G>C	CCDS163.1	.	.	.	.	.	.	.	.	.	.	G	10.31	1.315237	0.23908	.	.	ENSG00000162458	ENST00000496928;ENST00000508310;ENST00000510393;ENST00000375771;ENST00000502638;ENST00000375766;ENST00000400773;ENST00000483633;ENST00000502739;ENST00000431771;ENST00000441801;ENST00000332305	T;T;T;T;T;T;T;T;T	0.62788	0.67;0.31;0.31;-0.0;0.71;0.65;0.72;0.25;-0.0	4.84	3.9	0.45041	.	0.933364	0.09073	N	0.852519	T	0.68769	0.3037	M	0.73598	2.24	0.09310	N	1	P;D;P	0.60160	0.723;0.987;0.495	B;P;B	0.57620	0.195;0.824;0.19	T	0.58301	-0.7660	10	0.09338	T	0.73	.	6.035	0.19702	0.156:0.177:0.667:0.0	.	26;26;26	Q8WUP2-3;Q8WUP2-2;Q8WUP2	.;.;FBLI1_HUMAN	L	26	ENSP00000421885:V26L;ENSP00000364926:V26L;ENSP00000364921:V26L;ENSP00000383584:V26L;ENSP00000427052:V26L;ENSP00000424920:V26L;ENSP00000402401:V26L;ENSP00000416387:V26L;ENSP00000364920:V26L	ENSP00000364920:V26L	V	+	1	0	FBLIM1	15964141	0.003000	0.15002	0.381000	0.26106	0.097000	0.18754	0.967000	0.29344	2.391000	0.81399	0.655000	0.94253	GTG		0.672	FBLIM1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008511.3	NM_001024215		36	103	0	0	0	0.812448	0	36	103					C	16091554	G	C	16091554	3	2	77	1	0	0	0	0	1	0	0	0	5697	1145	40	5	78	5	FBLIM1	1	16091554	Missense_Mutation	SNP	G	TCGA-EJ-5542-01A-01D-1576-08	3111790	16091554	233159067	2	4011											
ZMYND12	84217	broad.mit.edu	37	chr1	42898890	42898890	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggttttttggggggctttgTcagatgtagattctcgaatg	6	17	14	4	1	2	2	1	0	1	2	3	3	2	2	0	4	0	3	0	4	2	6			TCGA-EJ-5542-01A-01D-1576-08	TCGA-EJ-5542-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce0298b4-8456-4369-8916-c951b956dcc6	dd83711f-fea0-42e2-93ca-58faed54db89	g.chr1:42898890T>G	ENST00000372565.3	-	7	1168	c.899A>C	c.(898-900)gAc>gCc	p.D300A	ZMYND12_ENST00000475426.1_5'UTR|ZMYND12_ENST00000433602.2_Missense_Mutation_p.D190A	NM_032257.4	NP_115633.3	Q9H0C1	ZMY12_HUMAN	zinc finger, MYND-type containing 12	300						intracellular (GO:0005622)	metal ion binding (GO:0046872)	p.D300A(1)		NS(1)|endometrium(2)|large_intestine(3)|lung(5)|ovary(2)|prostate(2)|skin(2)	17	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				GGGGGCTTTGTCAGATGTAGA	0.408																																						ENST00000372565.3																			1	Substitution - Missense(1)	p.D300A(1)	prostate(1)	NS(1)|endometrium(2)|large_intestine(3)|lung(5)|ovary(2)|prostate(2)|skin(2)	17						c.(898-900)gAc>gCc		zinc finger, MYND-type containing 12							164	174	171					1																	42898890		2203	4300	6503	SO:0001583	missense	84217					intracellular	zinc ion binding	g.chr1:42898890T>G	AK057384	CCDS467.1	1p34.1	2008-02-05			ENSG00000066185	ENSG00000066185		"Zinc fingers, MYND-type"	21192	protein-coding gene	gene with protein product						11230166	Standard	NM_032257		Approved	DKFZp434N2435	uc001chj.3	Q9H0C1	OTTHUMG00000007333	ENST00000372565.3:c.899A>C	1.37:g.42898890T>G	ENSP00000361646:p.Asp300Ala					ZMYND12_ENST00000433602.2_Missense_Mutation_p.D190A|ZMYND12_ENST00000475426.1_5'UTR	p.D300A	NM_032257.4	NP_115633.3	Q9H0C1	ZMY12_HUMAN			7	1168	-	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)	300					Q5VUS6|Q8TC87|Q96M51	Missense_Mutation	SNP	ENST00000372565.3	37	c.899A>C	CCDS467.1	.	.	.	.	.	.	.	.	.	.	T	2.233	-0.375612	0.05034	.	.	ENSG00000066185	ENST00000372565;ENST00000433602	T;T	0.56275	0.47;0.47	5.71	1.82	0.25136	.	0.983518	0.08323	N	0.963455	T	0.38108	0.1028	N	0.22421	0.69	0.09310	N	1	B;B	0.20887	0.049;0.022	B;B	0.21360	0.034;0.01	T	0.30765	-0.9967	10	0.49607	T	0.09	-0.3941	7.3162	0.26501	0.0:0.0776:0.3494:0.5731	.	190;300	E9PFV0;Q9H0C1	.;ZMY12_HUMAN	A	300;190	ENSP00000361646:D300A;ENSP00000398340:D190A	ENSP00000361646:D300A	D	-	2	0	ZMYND12	42671477	0.000000	0.05858	0.000000	0.03702	0.026000	0.11368	0.401000	0.20948	0.033000	0.15463	0.533000	0.62120	GAC		0.408	ZMYND12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019170.1	NM_032257		33	452	0	0	0	0.760397	0	33	452					G	42898890	T	G	42898890	3	3	77	1	0	0	0	0	1	0	0	0	17704	1667	58	5	206	5	ZMYND12	1	42898890	Missense_Mutation	SNP	T	TCGA-EJ-5542-01A-01D-1576-08	26807336	42898890	206351731	3	4012											
MCL1	4170	broad.mit.edu	37	chr1	150551355	150551355	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gtggttgcgctgcacgccatCcccaacccgtcgtaaggtct	6	9	11	15	4	1	0	0	0	1	0	3	0	2	0	4	2	3	4	4	2	2	2	rs367658301		TCGA-EJ-5542-01A-01D-1576-08	TCGA-EJ-5542-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce0298b4-8456-4369-8916-c951b956dcc6	dd83711f-fea0-42e2-93ca-58faed54db89	g.chr1:150551355C>T	ENST00000369026.2	-	1	711	c.652G>A	c.(652-654)Gat>Aat	p.D218N	MCL1_ENST00000464132.1_5'Flank|MCL1_ENST00000307940.3_Missense_Mutation_p.D218N	NM_001197320.1|NM_021960.4	NP_001184249.1|NP_068779.1	Q07820	MCL1_HUMAN	myeloid cell leukemia 1	218					apoptotic mitochondrial changes (GO:0008637)|cell fate determination (GO:0001709)|cellular homeostasis (GO:0019725)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|multicellular organismal development (GO:0007275)|negative regulation of anoikis (GO:2000811)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|positive regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903378)|protein transmembrane transport (GO:0071806)|regulation of response to DNA damage stimulus (GO:2001020)|response to cytokine (GO:0034097)	Bcl-2 family protein complex (GO:0097136)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial matrix (GO:0005759)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	BH3 domain binding (GO:0051434)|protein channel activity (GO:0015266)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)	p.D218N(1)		endometrium(2)|large_intestine(1)|lung(4)|prostate(1)	8	all_cancers(9;1.69e-53)|all_epithelial(9;1.95e-43)|all_lung(15;1.09e-34)|Lung NSC(24;4.04e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			TGCACGCCATCCCCAACCCGT	0.622																																						ENST00000369026.2																			1	Substitution - Missense(1)	p.D218N(1)	prostate(1)	endometrium(2)|large_intestine(1)|lung(4)|prostate(1)	8						c.(652-654)Gat>Aat		myeloid cell leukemia sequence 1 (BCL2-related)		C	ASN/ASP,ASN/ASP,ASN/ASP	0,4406		0,0,2203	60	66	64		193,652,652	4.6	0.9	1		64	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	MCL1	NM_001197320.1,NM_021960.4,NM_182763.2	23,23,23	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign,benign,benign	65/198,218/351,218/272	150551355	1,13005	2203	4300	6503	SO:0001583	missense	4170				anti-apoptosis|apoptosis|cell fate determination|cellular homeostasis|multicellular organismal development|response to cytokine stimulus	integral to membrane|mitochondrial outer membrane|nucleoplasm	BH3 domain binding|protein binding|protein channel activity|protein heterodimerization activity	g.chr1:150551355C>T	BC017197	CCDS956.1, CCDS957.1, CCDS72909.1	1q21	2014-03-07	2014-03-07		ENSG00000143384	ENSG00000143384			6943	protein-coding gene	gene with protein product		159552	"myeloid cell leukemia sequence 1 (BCL2-related)"			7682708, 7835896	Standard	NM_021960		Approved	BCL2L3, Mcl-1	uc001euz.3	Q07820	OTTHUMG00000034867	ENST00000369026.2:c.652G>A	1.37:g.150551355C>T	ENSP00000358022:p.Asp218Asn					MCL1_ENST00000307940.3_Missense_Mutation_p.D218N	p.D218N	NM_001197320.1|NM_021960.4	NP_001184249.1|NP_068779.1	Q07820	MCL1_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)		1	711	-	all_cancers(9;1.69e-53)|all_epithelial(9;1.95e-43)|all_lung(15;1.09e-34)|Lung NSC(24;4.04e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		218					B2R6B2|D3DV03|D3DV04|Q9HD91|Q9NRQ3|Q9NRQ4|Q9UHR7|Q9UHR8|Q9UHR9|Q9UNJ1	Missense_Mutation	SNP	ENST00000369026.2	37	c.652G>A	CCDS957.1	.	.	.	.	.	.	.	.	.	.	C	16.58	3.161706	0.57368	0.0	1.16E-4	ENSG00000143384	ENST00000369026;ENST00000307940;ENST00000439749	T;T	0.08634	3.07;3.07	4.58	4.58	0.56647	Apoptosis regulator, Bcl2-like (1);Apoptosis regulator, Bcl-2, BH3 motif, conserved site (1);Apoptosis regulator, Bcl-2, BH (2);	0.454797	0.24113	N	0.041433	T	0.04003	0.0112	L	0.38733	1.17	0.46564	D	0.999107	B;B	0.32573	0.376;0.195	B;B	0.29598	0.104;0.103	T	0.27157	-1.0082	10	0.87932	D	0	-10.4498	14.9264	0.70881	0.0:1.0:0.0:0.0	.	218;218	Q07820-2;Q07820	.;MCL1_HUMAN	N	218;218;147	ENSP00000358022:D218N;ENSP00000309973:D218N	ENSP00000309973:D218N	D	-	1	0	MCL1	148817979	1.000000	0.71417	0.943000	0.38184	0.500000	0.33767	4.803000	0.62546	2.367000	0.80283	0.561000	0.74099	GAT		0.622	MCL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084402.1	NM_021960		34	92	0	0	0	0.779181	0	34	92					T	150551355	C	T	150551355	3	4	77	1	0	0	0	0	1	0	0	0	9384	855	30	3	423	3	MCL1	1	150551355	Missense_Mutation	SNP	C	TCGA-EJ-5542-01A-01D-1576-08	107652465	150551355	98699266	4	4013											
SELENBP1	8991	broad.mit.edu	37	chr1	151341656	151341656	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caggttgggcatgggcagccGgtggatgacctaggatgcgg	7	7	19	8	2	0	1	0	1	0	0	0	3	0	3	2	7	2	3	2	7	1	2			TCGA-EJ-5542-01A-01D-1576-08	TCGA-EJ-5542-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce0298b4-8456-4369-8916-c951b956dcc6	dd83711f-fea0-42e2-93ca-58faed54db89	g.chr1:151341656G>A	ENST00000368868.5	-	4	275	c.184C>T	c.(184-186)Cgg>Tgg	p.R62W	SELENBP1_ENST00000435071.1_5'UTR|SELENBP1_ENST00000426705.2_Missense_Mutation_p.R104W|SELENBP1_ENST00000473693.1_5'UTR|SELENBP1_ENST00000447402.3_Intron	NM_003944.3	NP_003935.2	Q13228	SBP1_HUMAN	selenium binding protein 1	62					protein transport (GO:0015031)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	selenium binding (GO:0008430)	p.R62W(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|prostate(1)|urinary_tract(1)	20	Lung SC(34;0.00471)|Ovarian(49;0.00871)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			ATGGGCAGCCGGTGGATGACC	0.602																																						ENST00000426705.2																			1	Substitution - Missense(1)	p.R62W(1)	prostate(1)	breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|prostate(1)|urinary_tract(1)	20						c.(310-312)Cgg>Tgg		selenium binding protein 1							79	71	74					1																	151341656		2203	4299	6502	SO:0001583	missense	8991				protein transport	cytosol|membrane|nucleolus	protein binding|selenium binding	g.chr1:151341656G>A	U29091	CCDS995.1, CCDS58027.1, CCDS60266.1	1q21.3	2014-05-19			ENSG00000143416	ENSG00000143416			10719	protein-coding gene	gene with protein product		604188				9027582	Standard	NM_003944		Approved	hSP56, hSBP, LPSB	uc010pcy.3	Q13228	OTTHUMG00000012498	ENST00000368868.5:c.184C>T	1.37:g.151341656G>A	ENSP00000357861:p.Arg62Trp					SELENBP1_ENST00000473693.1_5'UTR|SELENBP1_ENST00000447402.3_Intron|SELENBP1_ENST00000368868.5_Missense_Mutation_p.R62W|SELENBP1_ENST00000435071.1_5'UTR	p.R104W	NM_001258289.1	NP_001245218.1	Q13228	SBP1_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)		4	454	-	Lung SC(34;0.00471)|Ovarian(49;0.00871)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		62					A6NML9|A6PVW9|B2RDR3|B4DKP6|B4E1F3|Q49AQ8|Q96GX7	Missense_Mutation	SNP	ENST00000368868.5	37	c.310C>T	CCDS995.1	.	.	.	.	.	.	.	.	.	.	G	19.13	3.767615	0.69878	.	.	ENSG00000143416	ENST00000368868;ENST00000458566;ENST00000426705;ENST00000427867	.	.	.	4.77	2.65	0.31530	.	0.000000	0.85682	D	0.000000	T	0.70491	0.3230	M	0.74389	2.26	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.997	T	0.74699	-0.3577	9	0.56958	D	0.05	0.0921	13.0218	0.58791	0.0:0.0:0.6895:0.3105	.	104;62	A6PVW9;Q13228	.;SBP1_HUMAN	W	62;46;104;44	.	ENSP00000357861:R62W	R	-	1	2	SELENBP1	149608280	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	4.747000	0.62141	1.165000	0.42670	0.462000	0.41574	CGG		0.602	SELENBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034904.4			4	115	0	0	0	0.150653	0	4	115					A	151341656	G	A	151341656	3	1	77	1	0	0	0	0	1	0	0	0	14014	1115	39	2	1270	2	SELENBP1	1	151341656	Missense_Mutation	SNP	G	TCGA-EJ-5542-01A-01D-1576-08	790301	151341656	97908965	5	4014											
RAB3GAP2	25782	broad.mit.edu	37	chr1	220364491	220364491	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctaaaattccccttcttggcGcatagatcacaaggaattga	13	11	7	10	1	2	2	1	1	1	1	3	3	3	3	2	2	0	1	2	2	5	6	rs151225064	byFrequency	TCGA-EJ-5542-01A-01D-1576-08	TCGA-EJ-5542-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce0298b4-8456-4369-8916-c951b956dcc6	dd83711f-fea0-42e2-93ca-58faed54db89	g.chr1:220364491G>A	ENST00000358951.2	-	14	1522	c.1406C>T	c.(1405-1407)gCg>gTg	p.A469V		NM_012414.3	NP_036546.2	Q9H2M9	RBGPR_HUMAN	RAB3 GTPase activating protein subunit 2 (non-catalytic)	469					establishment of protein localization to endoplasmic reticulum membrane (GO:0097051)|intracellular protein transport (GO:0006886)|positive regulation of catalytic activity (GO:0043085)|positive regulation of endoplasmic reticulum tubular network organization (GO:1903373)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Rab GTPase activity (GO:0032851)|regulation of GTPase activity (GO:0043087)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	enzyme activator activity (GO:0008047)|enzyme regulator activity (GO:0030234)|GTPase activator activity (GO:0005096)|protein heterodimerization activity (GO:0046982)|Rab GTPase binding (GO:0017137)	p.A469V(1)		breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(1)	39				GBM - Glioblastoma multiforme(131;0.0443)		CCTTCTTGGCGCATAGATCAC	0.493																																						ENST00000358951.2																			1	Substitution - Missense(1)	p.A469V(1)	prostate(1)	breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(1)	39						c.(1405-1407)gCg>gTg		RAB3 GTPase activating protein subunit 2 (non-catalytic)		G	VAL/ALA	0,4406		0,0,2203	137	134	135		1406	5.7	0.9	1	dbSNP_134	135	2,8598	2.2+/-6.3	0,2,4298	no	missense	RAB3GAP2	NM_012414.3	64	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	probably-damaging	469/1394	220364491	2,13004	2203	4300	6503	SO:0001583	missense	25782				intracellular protein transport	cytoplasm|soluble fraction	GTPase activator activity|protein heterodimerization activity	g.chr1:220364491G>A	AB020646	CCDS31028.1	1q41	2014-03-03			ENSG00000118873	ENSG00000118873			17168	protein-coding gene	gene with protein product		609275				15696165, 16532399, 24482476	Standard	NM_012414		Approved	RAB3-GAP150, KIAA0839, DKFZP434D245, SPG69	uc010puk.1	Q9H2M9	OTTHUMG00000037139	ENST00000358951.2:c.1406C>T	1.37:g.220364491G>A	ENSP00000351832:p.Ala469Val						p.A469V	NM_012414.3	NP_036546.2	Q9H2M9	RBGPR_HUMAN		GBM - Glioblastoma multiforme(131;0.0443)	14	1522	-			469					A6H8V0|O75872|Q9HAB0|Q9UFJ7|Q9UQ15	Missense_Mutation	SNP	ENST00000358951.2	37	c.1406C>T	CCDS31028.1	.	.	.	.	.	.	.	.	.	.	G	35	5.508939	0.96386	0.0	2.33E-4	ENSG00000118873	ENST00000358951	D	0.90444	-2.67	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	D	0.94925	0.8359	M	0.65975	2.015	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	D	0.94568	0.7768	10	0.56958	D	0.05	.	19.7176	0.96129	0.0:0.0:1.0:0.0	.	469	Q9H2M9	RBGPR_HUMAN	V	469	ENSP00000351832:A469V	ENSP00000351832:A469V	A	-	2	0	RAB3GAP2	218431114	1.000000	0.71417	0.907000	0.35723	0.936000	0.57629	9.090000	0.94144	2.670000	0.90874	0.563000	0.77884	GCG		0.493	RAB3GAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090205.2	NM_012414		5	234	0	0	0	0.217242	0	5	234					A	220364491	G	A	220364491	3	1	77	1	0	0	0	0	1	0	0	0	12936	1087	38	1	2863	1	RAB3GAP2	1	220364491	Missense_Mutation	SNP	G	TCGA-EJ-5542-01A-01D-1576-08	69022835	220364491	28886130	6	4015											
RYR2	6262	broad.mit.edu	37	chr1	237754089	237754089	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcttctccaagacggtggcTggagggctccctggggctgg	4	9	17	11	1	2	1	0	0	2	1	4	2	3	2	2	7	0	3	2	7	1	1			TCGA-EJ-5542-01A-01D-1576-08	TCGA-EJ-5542-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce0298b4-8456-4369-8916-c951b956dcc6	dd83711f-fea0-42e2-93ca-58faed54db89	g.chr1:237754089T>A	ENST00000366574.2	+	31	4274	c.3957T>A	c.(3955-3957)gcT>gcA	p.A1319A	RYR2_ENST00000360064.6_Silent_p.A1317A|RYR2_ENST00000542537.1_Silent_p.A1303A	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1319	4 X approximate repeats.				BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			AGACGGTGGCTGGAGGGCTCC	0.512																																						ENST00000366574.2																			0				NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586						c.(3955-3957)gcT>gcA		ryanodine receptor 2 (cardiac)							124	120	122					1																	237754089		1921	4134	6055	SO:0001819	synonymous_variant	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237754089T>A	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"Ion channels / Ryanodine receptors", "EF-hand domain containing"	10484	protein-coding gene	gene with protein product		180902	"arrhythmogenic right ventricular dysplasia 2"	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.3957T>A	1.37:g.237754089T>A						RYR2_ENST00000542537.1_Silent_p.A1303A|RYR2_ENST00000360064.6_Silent_p.A1317A	p.A1319A	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		31	4274	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	1319			4 X approximate repeats.		Q15411|Q546N8|Q5T3P2	Silent	SNP	ENST00000366574.2	37	c.3957T>A	CCDS55691.1																																																																																				0.512	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		4	221	0	0	0	0.184627	0	4	221					A	237754089	T	A	237754089	2	1	77	1	0	0	0	0	0	0	0	1	13769	1567	55	5		5	RYR2	1	237754089	Silent	SNP	T	TCGA-EJ-5542-01A-01D-1576-08	17389598	237754089	11496532	7	4016											
FMN2	56776	broad.mit.edu	37	chr1	240370947	240370947	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagcgggaatacctcctccGccccctctacccggagcggc	6	5	12	18	4	1	0	0	0	1	0	3	3	3	3	6	4	4	0	6	4	3	2			TCGA-EJ-5542-01A-01D-1576-08	TCGA-EJ-5542-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce0298b4-8456-4369-8916-c951b956dcc6	dd83711f-fea0-42e2-93ca-58faed54db89	g.chr1:240370947G>A	ENST00000319653.9	+	5	3065	c.2835G>A	c.(2833-2835)ccG>ccA	p.P945P		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	945	FH1.|Pro-rich.				cellular response to DNA damage stimulus (GO:0006974)|cellular response to hypoxia (GO:0071456)|establishment of meiotic spindle localization (GO:0051295)|formin-nucleated actin cable assembly (GO:0070649)|homologous chromosome movement towards spindle pole involved in homologous chromosome segregation (GO:0051758)|intracellular signal transduction (GO:0035556)|intracellular transport (GO:0046907)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein catabolic process (GO:0042177)|oogenesis (GO:0048477)|polar body extrusion after meiotic divisions (GO:0040038)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cell cortex (GO:0005938)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|microvillus (GO:0005902)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|spindle (GO:0005819)	actin binding (GO:0003779)			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			TACCTCCTCCGCCCCCTCTAC	0.692																																						ENST00000319653.9																			0				NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178						c.(2833-2835)ccG>ccA		formin 2							26	31	29					1																	240370947		2202	4299	6501	SO:0001819	synonymous_variant	56776				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding	g.chr1:240370947G>A	AF218942	CCDS31069.2	1q43	2008-02-05			ENSG00000155816	ENSG00000155816			14074	protein-coding gene	gene with protein product		606373				10781961	Standard	NM_020066		Approved		uc010pyd.2	Q9NZ56	OTTHUMG00000039883	ENST00000319653.9:c.2835G>A	1.37:g.240370947G>A							p.P945P	NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0106)		5	3065	+	Ovarian(103;0.127)	all_cancers(173;0.013)	945			FH1.|Pro-rich.		B0QZA7|B4DP05|Q59GF6|Q5VU37|Q9NZ55	Silent	SNP	ENST00000319653.9	37	c.2835G>A	CCDS31069.2																																																																																				0.692	FMN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096217.2	XM_371352		4	72	0	0	0	0.150653	0	4	72					A	240370947	G	A	240370947	2	1	77	1	0	0	0	0	0	0	0	1	5950	1074	38	1		1	FMN2	1	240370947	Silent	SNP	G	TCGA-EJ-5542-01A-01D-1576-08	2616858	240370947	8879674	8	4017											
HEATR5B	54497	broad.mit.edu	37	chr2	37283622	37283622	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gaggaaacactacaccaaaaAgggccacagaagcatcaatg	19	3	9	10	0	1	1	1	0	0	1	1	3	1	2	2	2	3	1	2	2	6	1			TCGA-EJ-5542-01A-01D-1576-08	TCGA-EJ-5542-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce0298b4-8456-4369-8916-c951b956dcc6	dd83711f-fea0-42e2-93ca-58faed54db89	g.chr2:37283622A>G	ENST00000233099.5	-	16	2455	c.2360T>C	c.(2359-2361)cTt>cCt	p.L787P	HEATR5B_ENST00000354531.2_Missense_Mutation_p.L787P	NM_019024.1	NP_061897.1	Q9P2D3	HTR5B_HUMAN	HEAT repeat containing 5B	787						extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)				breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	77		all_hematologic(82;0.21)				TACACCAAAAAGGGCCACAGA	0.393																																						ENST00000233099.5																			0				breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	77						c.(2359-2361)cTt>cCt		HEAT repeat containing 5B							84	90	88					2																	37283622		2203	4300	6503	SO:0001583	missense	54497						binding	g.chr2:37283622A>G	AB037835	CCDS33181.1	2p22.2	2007-01-02			ENSG00000008869	ENSG00000008869			29273	protein-coding gene	gene with protein product						10718198	Standard	XM_005264379		Approved	KIAA1414, DKFZp686P15184	uc002rpp.1	Q9P2D3	OTTHUMG00000152158	ENST00000233099.5:c.2360T>C	2.37:g.37283622A>G	ENSP00000233099:p.Leu787Pro					HEATR5B_ENST00000354531.2_Missense_Mutation_p.L787P	p.L787P	NM_019024.1	NP_061897.1	Q9P2D3	HTR5B_HUMAN			16	2455	-		all_hematologic(82;0.21)	787					B5MDU8|Q7Z3B2|Q9NVL7	Missense_Mutation	SNP	ENST00000233099.5	37	c.2360T>C	CCDS33181.1	.	.	.	.	.	.	.	.	.	.	A	23.9	4.474722	0.84640	.	.	ENSG00000008869	ENST00000233099;ENST00000354531	T;T	0.12984	2.63;2.63	5.5	5.5	0.81552	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.43523	0.1251	M	0.86343	2.81	0.80722	D	1	D	0.89917	1.0	D	0.75020	0.985	T	0.51450	-0.8704	10	0.87932	D	0	-17.4894	15.5924	0.76543	1.0:0.0:0.0:0.0	.	787	Q9P2D3	HTR5B_HUMAN	P	787	ENSP00000233099:L787P;ENSP00000346531:L787P	ENSP00000233099:L787P	L	-	2	0	HEATR5B	37137126	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	9.287000	0.95975	2.086000	0.62901	0.482000	0.46254	CTT		0.393	HEATR5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325492.1	NM_019024		3	175	0	0	0	0.150653	0	3	175					G	37283622	A	G	37283622	3	3	77	1	0	0	0	0	1	0	0	0	7032	72	3	4	3939	4	HEATR5B	2	37283622	Missense_Mutation	SNP	A	TCGA-EJ-5542-01A-01D-1576-08		37283622	205915751	9	4018											
VWA3B	200403	broad.mit.edu	37	chr2	98853086	98853086	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaagacctatggcttggtcGccaagaaactcaccctcatg	11	9	9	12	1	2	3	2	1	0	2	3	3	2	3	3	2	1	1	3	2	4	2	rs374199782		TCGA-EJ-5542-01A-01D-1576-08	TCGA-EJ-5542-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce0298b4-8456-4369-8916-c951b956dcc6	dd83711f-fea0-42e2-93ca-58faed54db89	g.chr2:98853086G>A	ENST00000477737.1	+	19	2770	c.2566G>A	c.(2566-2568)Gcc>Acc	p.A856T		NM_144992.4	NP_659429.4	Q502W6	VWA3B_HUMAN	von Willebrand factor A domain containing 3B	856								p.A856T(1)		NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						TGGCTTGGTCGCCAAGAAACT	0.478																																						ENST00000477737.1																			1	Substitution - Missense(1)	p.A856T(1)	prostate(1)	NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						c.(2566-2568)Gcc>Acc		von Willebrand factor A domain containing 3B		G	THR/ALA	1,4015		0,1,2007	98	103	101		2566	4.9	1	2		101	0,8348		0,0,4174	no	missense	VWA3B	NM_144992.4	58	0,1,6181	AA,AG,GG		0.0,0.0249,0.0081	probably-damaging	856/1295	98853086	1,12363	2008	4174	6182	SO:0001583	missense	200403							g.chr2:98853086G>A	AL832761	CCDS42718.1	2q11.2	2008-02-05			ENSG00000168658	ENSG00000168658			28385	protein-coding gene	gene with protein product						12477932	Standard	NM_144992		Approved	DKFZp686F2227, MGC26733	uc002syo.3	Q502W6	OTTHUMG00000153104	ENST00000477737.1:c.2566G>A	2.37:g.98853086G>A	ENSP00000417955:p.Ala856Thr						p.A856T	NM_144992.4	NP_659429.4	Q502W6	VWA3B_HUMAN			19	2770	+			856					B9EK71|Q86T73|Q8N2D0|Q8N770|Q8NA79|Q8ND63|Q8ND65|Q8WW02	Missense_Mutation	SNP	ENST00000477737.1	37	c.2566G>A	CCDS42718.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	28.0|28.0	4.886181|4.886181	0.91814|0.91814	2.49E-4|2.49E-4	0.0|0.0	ENSG00000168658|ENSG00000168658	ENST00000477737|ENST00000473149	T|.	0.08458|.	3.09|.	4.93|4.93	4.93|4.93	0.64822|0.64822	.|.	0.000000|.	0.64402|.	D|.	0.000009|.	T|T	0.72187|0.72187	0.3429|0.3429	M|M	0.61703|0.61703	1.905|1.905	0.80722|0.80722	D|D	1|1	D;D;D;D|.	0.89917|.	1.0;1.0;1.0;1.0|.	D;D;D;D|.	0.97110|.	0.998;1.0;0.999;0.998|.	T|T	0.71262|0.71262	-0.4645|-0.4645	10|5	0.87932|.	D|.	0|.	.|.	17.2494|17.2494	0.87038|0.87038	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	248;856;856;856|.	Q502W6-5;Q502W6;Q502W6-8;Q502W6-6|.	.;VWA3B_HUMAN;.;.|.	T|H	856|266	ENSP00000417955:A856T|.	ENSP00000417955:A856T|.	A|R	+|+	1|2	0|0	VWA3B|VWA3B	98219518|98219518	1.000000|1.000000	0.71417|0.71417	0.951000|0.951000	0.38953|0.38953	0.981000|0.981000	0.71138|0.71138	6.254000|6.254000	0.72460|0.72460	2.429000|2.429000	0.82318|0.82318	0.591000|0.591000	0.81541|0.81541	GCC|CGC		0.478	VWA3B-020	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353469.2	NM_144992		4	108	0	0	0	0.150653	0	4	108					A	98853086	G	A	98853086	3	1	77	1	0	0	0	0	1	0	0	0	17238	1087	38	1	2636	1	VWA3B	2	98853086	Missense_Mutation	SNP	G	TCGA-EJ-5542-01A-01D-1576-08	61569464	98853086	144346287	10	4019											
CCDC74A	90557	broad.mit.edu	37	chr2	132290465	132290465	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cctcaagtccctcctggaagGgagccagaggccccaggcag	9	4	13	15	0	1	1	1	0	0	1	3	3	3	3	6	4	1	1	6	4	2	0			TCGA-EJ-5542-01A-01D-1576-08	TCGA-EJ-5542-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce0298b4-8456-4369-8916-c951b956dcc6	dd83711f-fea0-42e2-93ca-58faed54db89	g.chr2:132290465G>T	ENST00000295171.6	+	6	1043	c.905G>T	c.(904-906)gGg>gTg	p.G302V	CCDC74A_ENST00000467992.2_3'UTR|CCDC74A_ENST00000409856.3_Missense_Mutation_p.G236V	NM_001258304.1|NM_001258305.1|NM_138770.2	NP_001245233.1|NP_001245234.1|NP_620125.1	Q96AQ1	CC74A_HUMAN	coiled-coil domain containing 74A	302			G -> R (in dbSNP:rs13660).					p.G302V(1)		endometrium(4)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19						CTCCTGGAAGGGAGCCAGAGG	0.692																																						ENST00000295171.6																			1	Substitution - Missense(1)	p.G302V(1)	prostate(1)	endometrium(4)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19						c.(904-906)gGg>gTg		coiled-coil domain containing 74A							45	52	50					2																	132290465		2203	4300	6503	SO:0001583	missense	90557							g.chr2:132290465G>T		CCDS2167.1, CCDS58732.1, CCDS74578.1	2q21.1	2008-02-05		2006-02-16	ENSG00000163040	ENSG00000163040			25197	protein-coding gene	gene with protein product						12477932	Standard	NM_138770		Approved	FLJ40345	uc002ttb.4	Q96AQ1	OTTHUMG00000131667	ENST00000295171.6:c.905G>T	2.37:g.132290465G>T	ENSP00000295171:p.Gly302Val					CCDC74A_ENST00000467992.2_3'UTR|CCDC74A_ENST00000409856.3_Missense_Mutation_p.G236V	p.G302V	NM_001258304.1|NM_001258305.1|NM_138770.2	NP_001245233.1|NP_001245234.1|NP_620125.1	Q96AQ1	CC74A_HUMAN			6	1043	+			302		G -> R (in dbSNP:rs13660).			Q6P4I5	Missense_Mutation	SNP	ENST00000295171.6	37	c.905G>T	CCDS2167.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	13.52|13.52	2.262932|2.262932	0.39995|0.39995	.|.	.|.	ENSG00000163040|ENSG00000163040	ENST00000295171;ENST00000409856|ENST00000434330	T;T|.	0.35236|.	1.32;1.32|.	2.66|2.66	1.27|1.27	0.21489|0.21489	.|.	0.449735|0.449735	0.16074|0.16074	U|U	0.230852|0.230852	T|.	0.42337|.	0.1198|.	M|M	0.63428|0.63428	1.95|1.95	0.25986|0.25986	N|N	0.982319|0.982319	P;P|.	0.46512|.	0.879;0.49|.	P;B|.	0.45538|.	0.484;0.267|.	T|.	0.38950|.	-0.9637|.	10|.	0.72032|0.87932	D|D	0.01|0	.|.	3.4143|3.4143	0.07369|0.07369	0.3419:0.0:0.6581:0.0|0.3419:0.0:0.6581:0.0	.|.	236;302|.	Q96AQ1-2;Q96AQ1|.	.;CC74A_HUMAN|.	V|X	302;236|191	ENSP00000295171:G302V;ENSP00000387009:G236V|.	ENSP00000295171:G302V|ENSP00000406839:G191X	G|G	+|+	2|1	0|0	CCDC74A|CCDC74A	132006935|132006935	0.338000|0.338000	0.24775|0.24775	0.925000|0.925000	0.36789|0.36789	0.173000|0.173000	0.22820|0.22820	0.697000|0.697000	0.25556|0.25556	1.192000|1.192000	0.43071|0.43071	0.194000|0.194000	0.17425|0.17425	GGG|GGA		0.692	CCDC74A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254570.2	NM_138770		11	110	1	0	3.07112e-06	0.38729	3.71284e-06	11	110					T	132290465	G	T	132290465	3	4	77	1	0	0	0	0	1	0	0	0	2847	1232	43	5	927	5	CCDC74A	2	132290465	Missense_Mutation	SNP	G	TCGA-EJ-5542-01A-01D-1576-08	33437379	132290465	110908908	11	4020											
NEB	4703	broad.mit.edu	37	chr2	152512437	152512437	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ggcggtatttctgatcactgGcatattcagttgctttcttg	6	17	10	8	1	4	1	2	1	2	0	4	1	4	1	0	3	1	4	0	3	2	7			TCGA-EJ-5542-01A-01D-1576-08	TCGA-EJ-5542-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce0298b4-8456-4369-8916-c951b956dcc6	dd83711f-fea0-42e2-93ca-58faed54db89	g.chr2:152512437G>A	ENST00000172853.10	-	50	6743	c.6596C>T	c.(6595-6597)gCc>gTc	p.A2199V	NEB_ENST00000397345.3_Missense_Mutation_p.A2199V|NEB_ENST00000603639.1_Missense_Mutation_p.A2199V|NEB_ENST00000604864.1_Missense_Mutation_p.A2199V|NEB_ENST00000427231.2_Missense_Mutation_p.A2199V|NEB_ENST00000409198.1_Missense_Mutation_p.A2199V			P20929	NEBU_HUMAN	nebulin	2199					muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)	p.A2199V(2)		NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		CTGATCACTGGCATATTCAGT	0.463																																						ENST00000397345.3																			2	Substitution - Missense(2)	p.A2199V(2)	kidney(2)	NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301						c.(6595-6597)gCc>gTc		nebulin							152	146	148					2																	152512437		1979	4154	6133	SO:0001583	missense	4703				muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle	g.chr2:152512437G>A	X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"nemaline myopathy type 2"	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.6596C>T	2.37:g.152512437G>A	ENSP00000172853:p.Ala2199Val					NEB_ENST00000409198.1_Missense_Mutation_p.A2199V|NEB_ENST00000172853.10_Missense_Mutation_p.A2199V|NEB_ENST00000604864.1_Missense_Mutation_p.A2199V|NEB_ENST00000427231.2_Missense_Mutation_p.A2199V|NEB_ENST00000603639.1_Missense_Mutation_p.A2199V	p.A2199V	NM_001164508.1	NP_001157980.1	P20929	NEBU_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.219)	50	6798	-			2199					F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Missense_Mutation	SNP	ENST00000172853.10	37	c.6596C>T		.	.	.	.	.	.	.	.	.	.	G	10.48	1.362679	0.24684	.	.	ENSG00000183091	ENST00000409198;ENST00000397345;ENST00000427231;ENST00000172853	T;T;T;T	0.05513	3.43;3.5;3.51;3.43	5.3	5.3	0.74995	.	0.413845	0.24869	N	0.034960	T	0.04363	0.0120	N	0.14661	0.345	0.80722	D	1	B	0.15141	0.012	B	0.13407	0.009	T	0.49652	-0.8917	10	0.17832	T	0.49	.	12.4703	0.55783	0.0761:0.0:0.9239:0.0	.	2199	P20929	NEBU_HUMAN	V	2199	ENSP00000386259:A2199V;ENSP00000380505:A2199V;ENSP00000416578:A2199V;ENSP00000172853:A2199V	ENSP00000172853:A2199V	A	-	2	0	NEB	152220683	0.966000	0.33281	1.000000	0.80357	0.977000	0.68977	1.663000	0.37429	2.757000	0.94681	0.563000	0.77884	GCC		0.463	NEB-201	KNOWN	basic	protein_coding	protein_coding		NM_004543		5	205	0	0	0	0.184627	0	5	205					A	152512437	G	A	152512437	3	1	77	1	0	0	0	0	1	0	0	0	10302	1203	42	3	19622	3	NEB	2	152512437	Missense_Mutation	SNP	G	TCGA-EJ-5542-01A-01D-1576-08	20221972	152512437	90686936	12	4021											
ABCA12	26154	broad.mit.edu	37	chr2	215890407	215890407	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	catggcttacttttgattttAggacttcaggaactggagga	10	14	11	6	0	1	1	1	1	0	0	1	5	1	5	0	5	2	1	0	5	3	6			TCGA-EJ-5542-01A-01D-1576-08	TCGA-EJ-5542-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce0298b4-8456-4369-8916-c951b956dcc6	dd83711f-fea0-42e2-93ca-58faed54db89	g.chr2:215890407A>G	ENST00000272895.7	-	11	1496	c.1277T>C	c.(1276-1278)cTa>cCa	p.L426P	AC072062.3_ENST00000602182.1_RNA|AC072062.3_ENST00000419251.1_RNA|AC072062.3_ENST00000595058.1_RNA|AC072062.3_ENST00000437897.3_RNA|ABCA12_ENST00000389661.4_Missense_Mutation_p.L108P	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	426					cellular homeostasis (GO:0019725)|ceramide transport (GO:0035627)|establishment of skin barrier (GO:0061436)|keratinization (GO:0031424)|lipid homeostasis (GO:0055088)|lipid transport (GO:0006869)|lung alveolus development (GO:0048286)|phospholipid efflux (GO:0033700)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of protein localization to cell surface (GO:2000010)|protein localization to plasma membrane (GO:0072659)|regulated secretory pathway (GO:0045055)|secretion by cell (GO:0032940)|surfactant homeostasis (GO:0043129)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|epidermal lamellar body (GO:0097209)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)	apolipoprotein A-I receptor binding (GO:0034191)|ATP binding (GO:0005524)|lipid transporter activity (GO:0005319)|lipid-transporting ATPase activity (GO:0034040)|receptor binding (GO:0005102)			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		TTTTGATTTTAGGACTTCAGG	0.289																																					Ovarian(66;664 1488 5121 34295)	ENST00000272895.7																			0				NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139						c.(1276-1278)cTa>cCa		ATP-binding cassette, sub-family A (ABC1), member 12							63	65	64					2																	215890407		2203	4300	6503	SO:0001583	missense	26154				cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity	g.chr2:215890407A>G	AF418105	CCDS33372.1, CCDS33373.1	2q34	2012-03-14			ENSG00000144452	ENSG00000144452		"ATP binding cassette transporters / subfamily A"	14637	protein-coding gene	gene with protein product		607800	"ichthyosis congenita II, lamellar ichthyosis B"	ICR2B		11435397, 12915478, 8845852, 10094194	Standard	NM_015657		Approved	DKFZP434G232, LI2	uc002vew.3	Q86UK0	OTTHUMG00000154801	ENST00000272895.7:c.1277T>C	2.37:g.215890407A>G	ENSP00000272895:p.Leu426Pro					ABCA12_ENST00000389661.4_Missense_Mutation_p.L108P|AC072062.3_ENST00000437897.3_RNA	p.L426P	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)	11	1496	-		Renal(323;0.127)	426					Q53QE2|Q53S55|Q8IZW6|Q96JT3|Q9Y4M5	Missense_Mutation	SNP	ENST00000272895.7	37	c.1277T>C	CCDS33372.1	.	.	.	.	.	.	.	.	.	.	A	18.63	3.664949	0.67700	.	.	ENSG00000144452	ENST00000272895;ENST00000389661	T;T	0.57273	0.41;0.41	5.83	5.83	0.93111	.	0.293466	0.24843	N	0.035150	T	0.51398	0.1672	N	0.24115	0.695	0.80722	D	1	P;P	0.48640	0.859;0.913	P;P	0.53006	0.522;0.715	T	0.56189	-0.8020	10	0.87932	D	0	.	12.5797	0.56383	1.0:0.0:0.0:0.0	.	426;108	Q86UK0;Q86UK0-2	ABCAC_HUMAN;.	P	426;108	ENSP00000272895:L426P;ENSP00000374312:L108P	ENSP00000272895:L426P	L	-	2	0	ABCA12	215598652	0.984000	0.35163	0.469000	0.27204	0.982000	0.71751	4.487000	0.60293	2.216000	0.71823	0.459000	0.35465	CTA		0.289	ABCA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337111.1	NM_173076		3	183	0	0	0	0.115264	0	3	183					G	215890407	A	G	215890407	3	3	77	1	0	0	0	0	1	0	0	0	30	420	15	4	6682	4	ABCA12	2	215890407	Missense_Mutation	SNP	A	TCGA-EJ-5542-01A-01D-1576-08	63377970	215890407	27308966	13	4022											
FAT4	79633	broad.mit.edu	37	chr4	126337635	126337635	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gatgatgatcgaggatctaaCagcaaactctcatatgttct	13	12	8	8	1	3	2	1	2	3	0	5	5	3	3	0	1	3	2	0	1	3	3			TCGA-EJ-5542-01A-01D-1576-08	TCGA-EJ-5542-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce0298b4-8456-4369-8916-c951b956dcc6	dd83711f-fea0-42e2-93ca-58faed54db89	g.chr4:126337635C>G	ENST00000394329.3	+	6	6889	c.6876C>G	c.(6874-6876)aaC>aaG	p.N2292K	FAT4_ENST00000335110.5_Missense_Mutation_p.N590K	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	2292	Cadherin 22. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.N2292K(2)		NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						GAGGATCTAACAGCAAACTCT	0.413																																						ENST00000394329.3																			2	Substitution - Missense(2)	p.N2292K(2)	prostate(2)	NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						c.(6874-6876)aaC>aaG		FAT atypical cadherin 4							295	281	286					4																	126337635		2203	4300	6503	SO:0001583	missense	79633				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:126337635C>G	AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"Cadherins / Cadherin-related"	23109	protein-coding gene	gene with protein product	"cadherin-related family member 11"	612411	"FAT tumor suppressor homolog 4 (Drosophila)"			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.6876C>G	4.37:g.126337635C>G	ENSP00000377862:p.Asn2292Lys					FAT4_ENST00000335110.5_Missense_Mutation_p.N590K	p.N2292K	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN			6	6889	+			2292			Cadherin 22.		A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Missense_Mutation	SNP	ENST00000394329.3	37	c.6876C>G	CCDS3732.3	.	.	.	.	.	.	.	.	.	.	C	16.49	3.136979	0.56936	.	.	ENSG00000196159	ENST00000394329;ENST00000335110	T;T	0.59906	0.23;0.23	5.23	1.44	0.22558	Cadherin (4);Cadherin-like (1);	0.000000	0.36815	U	0.002398	T	0.80803	0.4693	H	0.97103	3.94	0.44030	D	0.996755	D;D	0.89917	0.995;1.0	D;D	0.87578	0.97;0.998	T	0.79931	-0.1595	10	0.59425	D	0.04	.	9.1367	0.36879	0.0:0.62:0.0:0.38	.	590;2292	Q6V0I7-2;Q6V0I7	.;FAT4_HUMAN	K	2292;590	ENSP00000377862:N2292K;ENSP00000335169:N590K	ENSP00000335169:N590K	N	+	3	2	FAT4	126557085	0.262000	0.24073	0.936000	0.37596	0.856000	0.48823	-0.283000	0.08433	-0.049000	0.13379	-0.244000	0.11960	AAC		0.413	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582		118	391	0	0	0	0.870114	0	118	391					G	126337635	C	G	126337635	3	3	77	1	0	0	0	0	1	0	0	0	5692	477	17	5	6898	5	FAT4	4	126337635	Missense_Mutation	SNP	C	TCGA-EJ-5542-01A-01D-1576-08		126337635	64816641	14	4023											
FGG	2266	broad.mit.edu	37	chr4	155532986	155532986	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagtcatgtgttaaaatcgaTgcttcatatttcataatttc	12	17	6	6	1	3	0	3	0	0	0	5	2	3	0	0	0	1	2	0	0	4	6			TCGA-EJ-5542-01A-01D-1576-08	TCGA-EJ-5542-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce0298b4-8456-4369-8916-c951b956dcc6	dd83711f-fea0-42e2-93ca-58faed54db89	g.chr4:155532986T>C	ENST00000336098.3	-	4	410	c.372A>G	c.(370-372)gcA>gcG	p.A124A	FGG_ENST00000405164.1_Silent_p.A124A|FGG_ENST00000407946.1_Silent_p.A124A|FGG_ENST00000404648.3_Silent_p.A124A	NM_021870.2	NP_068656.2	P02679	FIBG_HUMAN	fibrinogen gamma chain	124					blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|cellular protein complex assembly (GO:0043623)|extracellular matrix organization (GO:0030198)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of exocytosis (GO:0045921)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of peptide hormone secretion (GO:0090277)|positive regulation of protein secretion (GO:0050714)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive regulation of vasoconstriction (GO:0045907)|protein polymerization (GO:0051258)|response to calcium ion (GO:0051592)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|cell cortex (GO:0005938)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|plasma membrane (GO:0005886)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)	cell adhesion molecule binding (GO:0050839)|metal ion binding (GO:0046872)|receptor binding (GO:0005102)|structural molecule activity (GO:0005198)	p.A124A(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	all_hematologic(180;0.215)	Renal(120;0.0458)			Sucralfate(DB00364)	TTAAAATCGATGCTTCATATT	0.299																																						ENST00000404648.3																			1	Substitution - coding silent(1)	p.A124A(1)	prostate(1)	breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(370-372)gcA>gcG		fibrinogen gamma chain	Sucralfate(DB00364)						86	89	88					4																	155532986		2203	4297	6500	SO:0001819	synonymous_variant	2266				platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding	g.chr4:155532986T>C		CCDS3788.1, CCDS47153.1	4q28	2014-09-17			ENSG00000171557	ENSG00000171557		"Fibrinogen C domain containing", "Endogenous ligands"	3694	protein-coding gene	gene with protein product		134850	"fibrinogen, gamma polypeptide"				Standard	NM_000509		Approved		uc003ioj.3	P02679	OTTHUMG00000150329	ENST00000336098.3:c.372A>G	4.37:g.155532986T>C						FGG_ENST00000407946.1_Silent_p.A124A|FGG_ENST00000336098.3_Silent_p.A124A|FGG_ENST00000405164.1_Silent_p.A124A	p.A124A	NM_000509.4	NP_000500.2	P02679	FIBG_HUMAN			4	611	-	all_hematologic(180;0.215)	Renal(120;0.0458)	124					A8K057|P04469|P04470|Q53Y18|Q96A14|Q96KJ3|Q9UC62|Q9UC63|Q9UCF3	Silent	SNP	ENST00000336098.3	37	c.372A>G	CCDS3788.1																																																																																				0.299	FGG-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000317581.1	NM_021870		28	66	0	0	0	0.693898	0	28	66					C	155532986	T	C	155532986	2	2	77	1	0	0	0	0	0	0	0	1	5870	1451	51	4		4	FGG	4	155532986	Silent	SNP	T	TCGA-EJ-5542-01A-01D-1576-08	29195351	155532986	35621290	15	4024											
ARRDC3	57561	broad.mit.edu	37	chr5	90670036	90670036	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tggatgtagaggaatggtacCgatgacaagtggcaaattaa	15	9	13	4	1	0	2	0	1	0	1	0	5	0	4	1	4	1	3	1	4	6	3			TCGA-EJ-5542-01A-01D-1576-08	TCGA-EJ-5542-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce0298b4-8456-4369-8916-c951b956dcc6	dd83711f-fea0-42e2-93ca-58faed54db89	g.chr5:90670036C>T	ENST00000265138.3	-	6	1194	c.928G>A	c.(928-930)Ggt>Agt	p.G310S	ARRDC3_ENST00000503192.1_5'Flank	NM_020801.2	NP_065852.1	Q96B67	ARRD3_HUMAN	arrestin domain containing 3	310					fat pad development (GO:0060613)|negative regulation of heat generation (GO:0031651)|negative regulation of locomotion involved in locomotory behavior (GO:0090327)|negative regulation of multicellular organismal metabolic process (GO:0044252)|positive regulation of adrenergic receptor signaling pathway (GO:0071879)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|skin development (GO:0043588)|temperature homeostasis (GO:0001659)	endosome (GO:0005768)|plasma membrane (GO:0005886)	beta-3 adrenergic receptor binding (GO:0031699)	p.G310S(1)		breast(2)|endometrium(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	18		all_cancers(142;2.22e-05)|all_epithelial(76;1.58e-07)|all_lung(232;0.000521)|Lung NSC(167;0.000548)|Ovarian(174;0.0798)|Colorectal(57;0.207)		OV - Ovarian serous cystadenocarcinoma(54;4.56e-30)|Epithelial(54;7.55e-26)|all cancers(79;3.63e-22)		GGAATGGTACCGATGACAAGT	0.378																																						ENST00000265138.3																			1	Substitution - Missense(1)	p.G310S(1)	prostate(1)	breast(2)|endometrium(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	18						c.(928-930)Ggt>Agt		arrestin domain containing 3							162	157	159					5																	90670036		2203	4300	6503	SO:0001583	missense	57561				signal transduction	cytoplasm	protein binding	g.chr5:90670036C>T	AB037797	CCDS34202.1	5q14.3	2013-10-11			ENSG00000113369	ENSG00000113369			29263	protein-coding gene	gene with protein product	"alpha-arrestin 3"	612464				10718198, 19605364	Standard	NM_020801		Approved	KIAA1376	uc003kjz.2	Q96B67	OTTHUMG00000162616	ENST00000265138.3:c.928G>A	5.37:g.90670036C>T	ENSP00000265138:p.Gly310Ser						p.G310S	NM_020801.2	NP_065852.1	Q96B67	ARRD3_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;4.56e-30)|Epithelial(54;7.55e-26)|all cancers(79;3.63e-22)	6	1194	-		all_cancers(142;2.22e-05)|all_epithelial(76;1.58e-07)|all_lung(232;0.000521)|Lung NSC(167;0.000548)|Ovarian(174;0.0798)|Colorectal(57;0.207)	310					A8K6T8|Q9P2H1	Missense_Mutation	SNP	ENST00000265138.3	37	c.928G>A	CCDS34202.1	.	.	.	.	.	.	.	.	.	.	C	36	5.750799	0.96890	.	.	ENSG00000113369	ENST00000265138	T	0.20463	2.07	6.02	6.02	0.97574	Immunoglobulin E-set (1);Arrestin-like, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.62036	0.2395	M	0.94142	3.5	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.71407	-0.4602	10	0.87932	D	0	-44.9642	20.5373	0.99239	0.0:1.0:0.0:0.0	.	310	Q96B67	ARRD3_HUMAN	S	310	ENSP00000265138:G310S	ENSP00000265138:G310S	G	-	1	0	ARRDC3	90705792	1.000000	0.71417	0.975000	0.42487	0.995000	0.86356	7.818000	0.86416	2.857000	0.98124	0.650000	0.86243	GGT		0.378	ARRDC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369763.2	NM_020801		5	285	0	0	0	0.248553	0	5	285					T	90670036	C	T	90670036	3	4	77	1	0	0	0	0	1	0	0	0	984	652	23	2	328	2	ARRDC3	5	90670036	Missense_Mutation	SNP	C	TCGA-EJ-5542-01A-01D-1576-08		90670036	90245224	16	4025											
KLHL3	26249	broad.mit.edu	37	chr5	136963996	136963996	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cagtcattacctgcgttgcgCcggcacatgttcatgtctgc	6	12	10	13	3	3	0	2	0	1	0	3	0	3	0	2	1	4	3	2	1	1	3			TCGA-EJ-5542-01A-01D-1576-08	TCGA-EJ-5542-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce0298b4-8456-4369-8916-c951b956dcc6	dd83711f-fea0-42e2-93ca-58faed54db89	g.chr5:136963996C>T	ENST00000309755.4	-	13	2024	c.1581G>A	c.(1579-1581)cgG>cgA	p.R527R	KLHL3_ENST00000508657.1_Silent_p.R495R|KLHL3_ENST00000506491.1_Silent_p.R445R|KLHL3_ENST00000541417.1_3'UTR|KLHL3_ENST00000506873.1_5'UTR	NM_017415.2	NP_059111.2	Q9UH77	KLHL3_HUMAN	kelch-like family member 3	527					distal tubule morphogenesis (GO:0072156)|ion homeostasis (GO:0050801)|protein K48-linked ubiquitination (GO:0070936)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|renal sodium ion absorption (GO:0070294)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)	structural molecule activity (GO:0005198)			breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|stomach(1)|upper_aerodigestive_tract(1)	21		all_hematologic(541;3.67e-07)|Breast(839;7.61e-05)|Prostate(281;0.000825)|Ovarian(839;0.0481)|all_lung(232;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)	GBM - Glioblastoma multiforme(465;0.0223)		CTGCGTTGCGCCGGCACATGT	0.537																																						ENST00000508657.1																			0				breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|stomach(1)|upper_aerodigestive_tract(1)	21						c.(1483-1485)cgG>cgA		kelch-like family member 3							223	192	203					5																	136963996		2203	4300	6503	SO:0001819	synonymous_variant	26249					cytoplasm|cytoskeleton	actin binding|structural molecule activity	g.chr5:136963996C>T	AB032955	CCDS4192.1, CCDS58969.1, CCDS58970.1	5q31	2013-01-30	2013-01-30		ENSG00000146021	ENSG00000146021		"Kelch-like", "BTB/POZ domain containing"	6354	protein-coding gene	gene with protein product		605775	"kelch (Drosophila)-like 3", "kelch-like 3 (Drosophila)"			10843806	Standard	NM_017415		Approved	KIAA1129	uc010jek.3	Q9UH77	OTTHUMG00000129155	ENST00000309755.4:c.1581G>A	5.37:g.136963996C>T						KLHL3_ENST00000309755.4_Silent_p.R527R|KLHL3_ENST00000506491.1_Silent_p.R445R|KLHL3_ENST00000506873.1_5'UTR|KLHL3_ENST00000541417.1_3'UTR	p.R495R	NM_001257194.1	NP_001244123.1	Q9UH77	KLHL3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)	GBM - Glioblastoma multiforme(465;0.0223)	13	2199	-		all_hematologic(541;3.67e-07)|Breast(839;7.61e-05)|Prostate(281;0.000825)|Ovarian(839;0.0481)|all_lung(232;0.198)	527					B2RBK7|Q9UH75|Q9UH76|Q9ULU0|Q9Y6V6	Silent	SNP	ENST00000309755.4	37	c.1485G>A	CCDS4192.1																																																																																				0.537	KLHL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251220.2			23	219	0	0	0	0.639603	0	23	219					T	136963996	C	T	136963996	2	4	77	1	0	0	0	0	0	0	0	1	8383	726	26	3		3	KLHL3	5	136963996	Silent	SNP	C	TCGA-EJ-5542-01A-01D-1576-08	46293960	136963996	43951264	17	4026											
PCDHA3	56145	broad.mit.edu	37	chr5	140183011	140183011	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cccacgctggtgtgctccagCgcggtggggagctggtcata	5	8	16	12	3	1	0	1	0	0	0	2	1	2	1	2	5	3	3	2	5	1	1			TCGA-EJ-5542-01A-01D-1576-08	TCGA-EJ-5542-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce0298b4-8456-4369-8916-c951b956dcc6	dd83711f-fea0-42e2-93ca-58faed54db89	g.chr5:140183011C>T	ENST00000522353.2	+	1	2229	c.2229C>T	c.(2227-2229)agC>agT	p.S743S	PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000532566.2_Silent_p.S743S|PCDHA2_ENST00000520672.2_Intron|PCDHA1_ENST00000504120.2_Intron	NM_018906.2	NP_061729.1	Q9Y5H8	PCDA3_HUMAN	protocadherin alpha 3	743	6 X 4 AA repeats of P-X-X-P.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.S743S(4)|p.S743R(2)		NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGTGCTCCAGCGCGGTGGGGA	0.637																																						ENST00000522353.2																			6	Substitution - coding silent(4)|Substitution - Missense(2)	p.S743S(4)|p.S743R(2)	prostate(2)|lung(2)|endometrium(2)	NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1)	95						c.(2227-2229)agC>agT									78	85	83					5																	140183011		2203	4300	6503	SO:0001819	synonymous_variant	0							g.chr5:140183011C>T	AF152481	CCDS54915.1	5q31	2010-11-26				ENSG00000255408		"Cadherins / Protocadherins : Clustered"	8669	other	complex locus constituent	"KIAA0345-like 11"	606309				10380929	Standard	NM_018906		Approved	PCDH-ALPHA3		Q9Y5H8		ENST00000522353.2:c.2229C>T	5.37:g.140183011C>T						PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000532566.2_Silent_p.S743S|PCDHA2_ENST00000520672.2_Intron|PCDHA1_ENST00000504120.2_Intron	p.S743S	NM_018906.2	NP_061729.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2229	+								O75286	Silent	SNP	ENST00000522353.2	37	c.2229C>T	CCDS54915.1																																																																																				0.637	PCDHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372848.2	NM_018906		5	288	0	0	0	0.217242	0	5	288					T	140183011	C	T	140183011	2	4	77	1	0	0	0	0	0	0	0	1	11525	767	27	1		1	PCDHA3	5	140183011	Silent	SNP	C	TCGA-EJ-5542-01A-01D-1576-08	3219015	140183011	40732249	18	4027											
PCDHA7	56141	broad.mit.edu	37	chr5	140215137	140215137	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acaggttacctgctccctgaCgccccgcgttcccttcaagt	6	10	8	17	3	1	1	1	1	0	0	3	1	3	1	5	1	2	3	5	1	2	3	rs550090383		TCGA-EJ-5542-01A-01D-1576-08	TCGA-EJ-5542-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce0298b4-8456-4369-8916-c951b956dcc6	dd83711f-fea0-42e2-93ca-58faed54db89	g.chr5:140215137C>T	ENST00000525929.1	+	1	1169	c.1169C>T	c.(1168-1170)aCg>aTg	p.T390M	PCDHA7_ENST00000378125.3_Missense_Mutation_p.T390M|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron	NM_018910.2	NP_061733.1	Q9UN72	PCDA7_HUMAN	protocadherin alpha 7	390	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.T390M(2)		NS(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGCTCCCTGACGCCCCGCGTT	0.542													.|||	1	0.000199681	0	0	5008	,	,		20599	0.001		0	False		,,,				2504	0				NSCLC(160;258 2013 5070 22440 28951)	ENST00000525929.1																			2	Substitution - Missense(2)	p.T390M(2)	prostate(2)	NS(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63						c.(1168-1170)aCg>aTg									137	135	135					5																	140215137		2203	4299	6502	SO:0001583	missense	0							g.chr5:140215137C>T	AF152485	CCDS54918.1	5q31	2010-11-26				ENSG00000204963		"Cadherins / Protocadherins : Clustered"	8673	other	complex locus constituent	"KIAA0345-like 7", "ortholog to mouse CNR4"	606313		CNRS4		10380929, 10662547	Standard	NM_018910		Approved	CNR4, CRNR4		Q9UN72		ENST00000525929.1:c.1169C>T	5.37:g.140215137C>T	ENSP00000436426:p.Thr390Met					PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA7_ENST00000378125.3_Missense_Mutation_p.T390M	p.T390M	NM_018910.2	NP_061733.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1169	+								O75282	Missense_Mutation	SNP	ENST00000525929.1	37	c.1169C>T	CCDS54918.1	.	.	.	.	.	.	.	.	.	.	C	0.181	-1.062443	0.01950	.	.	ENSG00000204963	ENST00000525929;ENST00000378125	T;T	0.01854	4.6;4.6	4.04	0.888	0.19206	Cadherin (4);Cadherin-like (1);	0.730603	0.10108	U	0.715048	T	0.01940	0.0061	L	0.31804	0.96	0.09310	N	1	P;P	0.39759	0.687;0.555	B;B	0.38616	0.119;0.277	T	0.47484	-0.9114	10	0.38643	T	0.18	.	3.4208	0.07393	0.3335:0.4015:0.1813:0.0837	.	390;390	Q9UN72-2;Q9UN72	.;PCDA7_HUMAN	M	390	ENSP00000436426:T390M;ENSP00000367365:T390M	ENSP00000367365:T390M	T	+	2	0	PCDHA7	140195321	0.000000	0.05858	0.001000	0.08648	0.136000	0.21042	-4.674000	0.00200	0.275000	0.22094	0.305000	0.20034	ACG		0.542	PCDHA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372887.2	NM_018910		6	293	0	0	0	0.217242	0	6	293					T	140215137	C	T	140215137	3	4	77	1	0	0	0	0	1	0	0	0	11529	536	19	1	1171	1	PCDHA7	5	140215137	Missense_Mutation	SNP	C	TCGA-EJ-5542-01A-01D-1576-08	32126	140215137	40700123	19	4028											
PCDHA13	56136	broad.mit.edu	37	chr5	140263465	140263465	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcagttccaggtgagcgcgCgcgactctggcgtgccgcct	4	8	15	14	6	1	1	0	1	1	0	2	2	2	1	3	2	3	2	3	2	0	1			TCGA-EJ-5542-01A-01D-1576-08	TCGA-EJ-5542-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce0298b4-8456-4369-8916-c951b956dcc6	dd83711f-fea0-42e2-93ca-58faed54db89	g.chr5:140263465C>T	ENST00000289272.2	+	1	1612	c.1612C>T	c.(1612-1614)Cgc>Tgc	p.R538C	PCDHA10_ENST00000307360.5_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA13_ENST00000409494.1_Missense_Mutation_p.R538C|PCDHA11_ENST00000398640.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA9_ENST00000532602.1_Intron	NM_018904.2|NM_031865.1	NP_061727.1|NP_114071.1	Q9Y5I0	PCDAD_HUMAN	protocadherin alpha 13	538	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.R538C(1)		NS(1)|biliary_tract(2)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(18)|liver(3)|lung(23)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGTGAGCGCGCGCGACTCTGG	0.682																																					Melanoma(147;1739 1852 5500 27947 37288)	ENST00000289272.2																			1	Substitution - Missense(1)	p.R538C(1)	prostate(1)	NS(1)|biliary_tract(2)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(18)|liver(3)|lung(23)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	95						c.(1612-1614)Cgc>Tgc									73	79	77					5																	140263465		2203	4299	6502	SO:0001583	missense	0							g.chr5:140263465C>T	AF152478	CCDS4240.1	5q31	2010-11-26			ENSG00000239389	ENSG00000239389		"Cadherins / Protocadherins : Clustered"	8667	other	complex locus constituent	"KIAA0345-like 1", "ortholog of mouse CNR5"	606319		CNRS5		10380929, 10662547	Standard	NM_018904		Approved	CNR5, CRNR5, CNRN5, PCDH-ALPHA13		Q9Y5I0	OTTHUMG00000129614	ENST00000289272.2:c.1612C>T	5.37:g.140263465C>T	ENSP00000289272:p.Arg538Cys					PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA13_ENST00000409494.1_Missense_Mutation_p.R538C|PCDHA10_ENST00000506939.2_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA3_ENST00000522353.2_Intron	p.R538C	NM_018904.2|NM_031865.1	NP_061727.1|NP_114071.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1612	+								O75277	Missense_Mutation	SNP	ENST00000289272.2	37	c.1612C>T	CCDS4240.1	.	.	.	.	.	.	.	.	.	.	C	10.31	1.314691	0.23908	.	.	ENSG00000239389	ENST00000409494;ENST00000289272	T;T	0.54866	0.55;0.55	4.54	3.67	0.42095	Cadherin (5);Cadherin-like (1);	.	.	.	.	T	0.38639	0.1048	L	0.45422	1.42	0.34065	D	0.657761	B;B;B	0.30542	0.051;0.08;0.284	B;B;B	0.25506	0.017;0.061;0.059	T	0.52756	-0.8533	9	0.87932	D	0	.	3.1978	0.06639	0.2757:0.492:0.1433:0.089	.	538;538;538	Q9Y5I0;C9JA99;Q9Y5I0-2	PCDAD_HUMAN;.;.	C	538	ENSP00000386821:R538C;ENSP00000289272:R538C	ENSP00000289272:R538C	R	+	1	0	PCDHA13	140243649	0.000000	0.05858	1.000000	0.80357	0.510000	0.34073	-1.686000	0.01929	1.101000	0.41535	0.561000	0.74099	CGC		0.682	PCDHA13-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335000.1	NM_018904		5	167	0	0	0	0.184627	0	5	167					T	140263465	C	T	140263465	3	4	77	1	0	0	0	0	1	0	0	0	11523	768	27	1	1614	1	PCDHA13	5	140263465	Missense_Mutation	SNP	C	TCGA-EJ-5542-01A-01D-1576-08	48328	140263465	40651795	20	4029											
DOCK2	1794	broad.mit.edu	37	chr5	169483749	169483749	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggcccgtgcgcagggggaccGtagacccagagaatgagttt	9	6	16	10	3	0	3	0	1	0	2	0	5	0	4	3	3	1	3	3	3	2	2			TCGA-EJ-5542-01A-01D-1576-08	TCGA-EJ-5542-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce0298b4-8456-4369-8916-c951b956dcc6	dd83711f-fea0-42e2-93ca-58faed54db89	g.chr5:169483749G>A	ENST00000256935.8	+	43	4437	c.4357G>A	c.(4357-4359)Gta>Ata	p.V1453I	DOCK2_ENST00000540750.1_Missense_Mutation_p.V514I|DOCK2_ENST00000523351.1_3'UTR|DOCK2_ENST00000520908.1_Missense_Mutation_p.V945I	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	1453	DHR-2.|Interaction with CRKL.				actin cytoskeleton organization (GO:0030036)|alpha-beta T cell proliferation (GO:0046633)|chemotaxis (GO:0006935)|establishment of T cell polarity (GO:0001768)|immunological synapse formation (GO:0001771)|macropinocytosis (GO:0044351)|membrane raft polarization (GO:0001766)|myeloid dendritic cell activation involved in immune response (GO:0002277)|negative thymic T cell selection (GO:0045060)|positive regulation of phagocytosis (GO:0050766)|positive thymic T cell selection (GO:0045059)|regulation of defense response to virus by virus (GO:0050690)|small GTPase mediated signal transduction (GO:0007264)|viral process (GO:0016032)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rac GTPase activator activity (GO:0030675)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|T cell receptor binding (GO:0042608)	p.V1453I(1)		NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CAGGGGGACCGTAGACCCAGA	0.557																																						ENST00000256935.8																			1	Substitution - Missense(1)	p.V1453I(1)	prostate(1)	NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160						c.(4357-4359)Gta>Ata		dedicator of cytokinesis 2							116	91	99					5																	169483749		2203	4300	6503	SO:0001583	missense	1794				actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding	g.chr5:169483749G>A	BC016996	CCDS4371.1	5q35.1	2008-02-05			ENSG00000134516	ENSG00000134516			2988	protein-coding gene	gene with protein product		603122	"dedicator of cyto-kinesis 2"				Standard	NM_004946		Approved	KIAA0209	uc003maf.3	Q92608	OTTHUMG00000130437	ENST00000256935.8:c.4357G>A	5.37:g.169483749G>A	ENSP00000256935:p.Val1453Ile					DOCK2_ENST00000520908.1_Missense_Mutation_p.V945I|DOCK2_ENST00000540750.1_Missense_Mutation_p.V514I|DOCK2_ENST00000523351.1_3'UTR	p.V1453I	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		43	4437	+	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	1453			DHR-2.|Interaction with CRKL.		Q2M3I0|Q96AK7	Missense_Mutation	SNP	ENST00000256935.8	37	c.4357G>A	CCDS4371.1	.	.	.	.	.	.	.	.	.	.	G	8.263	0.811589	0.16537	.	.	ENSG00000134516	ENST00000256935;ENST00000520908;ENST00000540750	T;T;T	0.17691	2.26;2.26;2.26	5.27	4.4	0.53042	.	0.211156	0.40144	N	0.001168	T	0.12561	0.0305	L	0.35341	1.055	0.09310	N	0.999999	B;B	0.22604	0.0;0.072	B;B	0.09377	0.0;0.004	T	0.17258	-1.0375	10	0.35671	T	0.21	.	9.9411	0.41580	0.1548:0.0:0.8452:0.0	.	945;1453	E7ERW7;Q92608	.;DOCK2_HUMAN	I	1453;945;514	ENSP00000256935:V1453I;ENSP00000429283:V945I;ENSP00000438827:V514I	ENSP00000256935:V1453I	V	+	1	0	DOCK2	169416327	1.000000	0.71417	0.006000	0.13384	0.210000	0.24377	3.585000	0.53943	1.212000	0.43366	0.650000	0.86243	GTA		0.557	DOCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252828.2	NM_004946		18	50	0	0	0	0.539581	0	18	50					A	169483749	G	A	169483749	3	1	77	1	0	0	0	0	1	0	0	0	4687	1145	40	1	4527	1	DOCK2	5	169483749	Missense_Mutation	SNP	G	TCGA-EJ-5542-01A-01D-1576-08	29220284	169483749	11431511	21	4030											
ZNF292	23036	broad.mit.edu	37	chr6	87965133	87965137	+	Frame_Shift_Del	DEL	AGTAA	AGTAA	-																															cactgcatgttaaacaatctAgtaaagagagactagcagct																										TCGA-EJ-5542-01A-01D-1576-08	TCGA-EJ-5542-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce0298b4-8456-4369-8916-c951b956dcc6	dd83711f-fea0-42e2-93ca-58faed54db89	g.chr6:87965133_87965137delAGTAA	ENST00000369577.3	+	8	1829_1833	c.1786_1790delAGTAA	c.(1786-1791)agtaaafs	p.SK596fs	ZNF292_ENST00000339907.4_Frame_Shift_Del_p.SK591fs	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN	zinc finger protein 292	596						nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		TAAACAATCTAGTAAAGAGAGACTA	0.361																																						ENST00000369577.3																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89						c.(1786-1791)afs		zinc finger protein 292																																				SO:0001589	frameshift_variant	23036				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:87965133_87965137delAGTAA	AB011102	CCDS47457.1	6q15	2008-10-23			ENSG00000188994	ENSG00000188994		"Zinc fingers, C2H2-type"	18410	protein-coding gene	gene with protein product						9628581	Standard	NM_015021		Approved	KIAA0530, ZFP292, bA393I2.3, Zn-15, Zn-16	uc003plm.4	O60281	OTTHUMG00000015164	ENST00000369577.3:c.1786_1790delAGTAA	6.37:g.87965133_87965137delAGTAA	ENSP00000358590:p.Ser596fs					ZNF292_ENST00000339907.4_Frame_Shift_Del_p.SK591fs	p.SK596fs	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0199)	8	1829_1833	+		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)	596					Q5W0B2|Q7Z3L7|Q9H8G3|Q9H8J4	Frame_Shift_Del	DEL	ENST00000369577.3	37	c.1786_1790delAGTAA	CCDS47457.1																																																																																				0.361	ZNF292-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000376192.2	NM_015021		10	76						10	76	---	---	---	---	-	87965137	AGTAA	-	87965133	7	5	77	1	0	1	0	1	0	0	0	0	17823	420	15	0	1816	0	ZNF292	6	87965133	Frame_Shift_Del	DEL	AGTAA	TCGA-EJ-5542-01A-01D-1576-08		87965133	83149934	22	4031											
TYW1	55253	broad.mit.edu	37	chr7	66548462	66548462	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gagtggcggtggaagatggaCcagcctgaaatgatcttgaa	12	8	15	6	1	1	4	0	3	1	1	1	7	1	6	2	4	1	0	2	4	3	1			TCGA-EJ-5542-01A-01D-1576-08	TCGA-EJ-5542-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce0298b4-8456-4369-8916-c951b956dcc6	dd83711f-fea0-42e2-93ca-58faed54db89	g.chr7:66548462C>A	ENST00000359626.5	+	11	1484	c.1320C>A	c.(1318-1320)gaC>gaA	p.D440E		NM_018264.2	NP_060734.2	Q9NV66	TYW1_HUMAN	tRNA-yW synthesizing protein 1 homolog (S. cerevisiae)	440					tRNA processing (GO:0008033)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|FMN binding (GO:0010181)|iron ion binding (GO:0005506)|lyase activity (GO:0016829)|oxidoreductase activity (GO:0016491)	p.D440E(1)		breast(1)|endometrium(8)|kidney(10)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(3)|stomach(2)|urinary_tract(2)	46		Lung NSC(55;0.0846)|all_lung(88;0.183)				GGAAGATGGACCAGCCTGAAA	0.443																																						ENST00000359626.5																			1	Substitution - Missense(1)	p.D440E(1)	prostate(1)	breast(1)|endometrium(8)|kidney(10)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(3)|stomach(2)|urinary_tract(2)	46						c.(1318-1320)gaC>gaA		tRNA-yW synthesizing protein 1 homolog (S. cerevisiae)							96	93	94					7																	66548462		2203	4300	6503	SO:0001583	missense	55253				tRNA processing		4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity	g.chr7:66548462C>A	AK001762	CCDS5538.1	7q11.21	2007-11-29	2007-11-29	2007-11-29	ENSG00000198874	ENSG00000198874			25598	protein-coding gene	gene with protein product	"tRNA-yW synthesizing protein 1 homolog A (S. cerevisiae)"	611243	"radical S-adenosyl methionine and flavodoxin domains 1"	RSAFD1		16162496, 17150819	Standard	NM_018264		Approved	FLJ10900, MGC23001, MGC60291, YPL207W, TYW1A	uc003tvn.4	Q9NV66	OTTHUMG00000129723	ENST00000359626.5:c.1320C>A	7.37:g.66548462C>A	ENSP00000352645:p.Asp440Glu						p.D440E	NM_018264.2	NP_060734.2	Q9NV66	TYW1_HUMAN			11	1484	+		Lung NSC(55;0.0846)|all_lung(88;0.183)	440					Q6PJG8|Q75MG8|Q75MN3|Q86V12|Q8IVS7|Q9H9C4	Missense_Mutation	SNP	ENST00000359626.5	37	c.1320C>A	CCDS5538.1	.	.	.	.	.	.	.	.	.	.	C	24.0	4.477772	0.84640	.	.	ENSG00000198874	ENST00000359626	D	0.90261	-2.64	4.62	4.62	0.57501	Radical SAM (1);	0.000000	0.85682	U	0.000000	D	0.95943	0.8679	M	0.89904	3.07	0.58432	D	0.999997	D	0.65815	0.995	D	0.79108	0.992	D	0.96802	0.9590	10	0.87932	D	0	.	15.333	0.74229	0.0:1.0:0.0:0.0	.	440	Q9NV66	TYW1_HUMAN	E	440	ENSP00000352645:D440E	ENSP00000352645:D440E	D	+	3	2	TYW1	66185897	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	3.451000	0.52964	2.273000	0.75805	0.603000	0.83216	GAC		0.443	TYW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251932.2	NM_018264		5	151	1	0	0.000602214	0.184627	0.000696848	5	151					A	66548462	C	A	66548462	3	1	77	1	0	0	0	0	1	0	0	0	16815	506	18	5	1362	5	TYW1	7	66548462	Missense_Mutation	SNP	C	TCGA-EJ-5542-01A-01D-1576-08		66548462	92590201	23	4032											
LOXL2	4017	broad.mit.edu	37	chr8	23191091	23191091	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctctgtgccggtgcagtcCatggagaatggccagtagcg	7	8	15	11	2	1	1	0	0	1	1	2	2	2	1	4	3	3	2	4	3	2	1			TCGA-EJ-5542-01A-01D-1576-08	TCGA-EJ-5542-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce0298b4-8456-4369-8916-c951b956dcc6	dd83711f-fea0-42e2-93ca-58faed54db89	g.chr8:23191091C>T	ENST00000389131.3	-	5	1158	c.789G>A	c.(787-789)atG>atA	p.M263I	RP11-177H13.2_ENST00000519692.1_RNA|LOXL2_ENST00000518472.1_5'Flank	NM_002318.2	NP_002309.1	Q9Y4K0	LOXL2_HUMAN	lysyl oxidase-like 2	263	SRCR 2. {ECO:0000255|PROSITE- ProRule:PRU00196}.				aging (GO:0007568)|cell adhesion (GO:0007155)|cellular protein modification process (GO:0006464)|collagen fibril organization (GO:0030199)|endothelial cell migration (GO:0043542)|endothelial cell proliferation (GO:0001935)|epithelial to mesenchymal transition (GO:0001837)|histone modification (GO:0016570)|negative regulation of transcription, DNA-templated (GO:0045892)|oxidation-reduction process (GO:0055114)|positive regulation of chondrocyte differentiation (GO:0032332)|protein deamination (GO:0018277)|response to copper ion (GO:0046688)|response to hypoxia (GO:0001666)|sprouting angiogenesis (GO:0002040)|transcription, DNA-templated (GO:0006351)	basement membrane (GO:0005604)|chromosome (GO:0005694)|extracellular space (GO:0005615)|membrane (GO:0016020)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|electron carrier activity (GO:0009055)|methylated histone binding (GO:0035064)|oligosaccharide binding (GO:0070492)|protein-lysine 6-oxidase activity (GO:0004720)|scavenger receptor activity (GO:0005044)|transcription corepressor activity (GO:0003714)	p.M263I(1)		breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(5)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(55;0.0453)|Breast(100;0.143)		Colorectal(74;0.0288)|COAD - Colon adenocarcinoma(73;0.096)		CGGTGCAGTCCATGGAGAATG	0.612																																						ENST00000389131.3																			1	Substitution - Missense(1)	p.M263I(1)	prostate(1)	breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(5)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						c.(787-789)atG>atA		lysyl oxidase-like 2							72	59	63					8																	23191091		2203	4300	6503	SO:0001583	missense	4017				aging|cell adhesion|protein modification process	extracellular space|membrane	copper ion binding|electron carrier activity|oxidoreductase activity, acting on the CH-NH2 group of donors, oxygen as acceptor|scavenger receptor activity	g.chr8:23191091C>T	U89942	CCDS34864.1	8p21.3	2008-05-15				ENSG00000134013			6666	protein-coding gene	gene with protein product		606663				9722957	Standard	NM_002318		Approved	WS9-14	uc003xdh.1	Q9Y4K0		ENST00000389131.3:c.789G>A	8.37:g.23191091C>T	ENSP00000373783:p.Met263Ile						p.M263I	NM_002318.2	NP_002309.1	Q9Y4K0	LOXL2_HUMAN		Colorectal(74;0.0288)|COAD - Colon adenocarcinoma(73;0.096)	5	1158	-		Prostate(55;0.0453)|Breast(100;0.143)	263			SRCR 2.		B2R5Q0|Q53HV3|Q9BW70|Q9Y5Y8	Missense_Mutation	SNP	ENST00000389131.3	37	c.789G>A	CCDS34864.1	.	.	.	.	.	.	.	.	.	.	c	14.18	2.457182	0.43634	.	.	ENSG00000134013	ENST00000389131	T	0.31510	1.49	5.93	5.93	0.95920	Speract/scavenger receptor (2);Speract/scavenger receptor-related (2);	0.193076	0.64402	D	0.000009	T	0.22085	0.0532	N	0.25144	0.715	0.26372	N	0.976876	B	0.02656	0.0	B	0.06405	0.002	T	0.10337	-1.0634	10	0.45353	T	0.12	.	12.3009	0.54874	0.0:0.9225:0.0:0.0775	.	263	Q9Y4K0	LOXL2_HUMAN	I	263	ENSP00000373783:M263I	ENSP00000373783:M263I	M	-	3	0	LOXL2	23247036	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	1.655000	0.37345	2.829000	0.97493	0.645000	0.84053	ATG		0.612	LOXL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375603.1			24	61	0	0	0	0.654019	0	24	61					T	23191091	C	T	23191091	3	4	77	1	0	0	0	0	1	0	0	0	8900	594	21	3	1575	3	LOXL2	8	23191091	Missense_Mutation	SNP	C	TCGA-EJ-5542-01A-01D-1576-08		23191091	123172931	24	4033											
EXTL3	2137	broad.mit.edu	37	chr8	28575417	28575417	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccagggcctttccatctttTcccccacactccctttgacc	5	13	4	19	0	1	1	0	1	1	0	5	1	5	1	7	1	0	0	7	1	0	4			TCGA-EJ-5542-01A-01D-1576-08	TCGA-EJ-5542-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce0298b4-8456-4369-8916-c951b956dcc6	dd83711f-fea0-42e2-93ca-58faed54db89	g.chr8:28575417T>C	ENST00000220562.4	+	3	2743	c.1841T>C	c.(1840-1842)tTc>tCc	p.F614S	EXTL3_ENST00000523149.1_Missense_Mutation_p.F230S|EXTL3_ENST00000519886.1_Intron	NM_001440.2	NP_001431.1	O43909	EXTL3_HUMAN	exostosin-like glycosyltransferase 3	614					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|positive regulation of cell growth (GO:0030307)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)	glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity (GO:0001888)|metal ion binding (GO:0046872)	p.F614S(1)		biliary_tract(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(8)|ovary(1)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(1)	36		Ovarian(32;0.069)		KIRC - Kidney renal clear cell carcinoma(542;0.107)|Kidney(114;0.129)|Colorectal(74;0.228)		TTCCATCTTTTCCCCCACACT	0.577																																						ENST00000220562.4																			1	Substitution - Missense(1)	p.F614S(1)	prostate(1)	biliary_tract(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(8)|ovary(1)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(1)	36						c.(1840-1842)tTc>tCc		exostosin-like glycosyltransferase 3							100	93	95					8																	28575417		2203	4300	6503	SO:0001583	missense	2137					integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|metal ion binding|protein binding	g.chr8:28575417T>C	U76188	CCDS6070.1	8p22-p12	2013-03-01	2013-03-01		ENSG00000012232	ENSG00000012232	2.4.1.223	"Exostosin glycosyltransferase family"	3518	protein-coding gene	gene with protein product	"REG receptor", "glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase"	605744	"exostoses (multiple)-like 3"			9479495, 9450183, 11257457	Standard	NM_001440		Approved	botv, REGR	uc003xgz.2	O43909	OTTHUMG00000102146	ENST00000220562.4:c.1841T>C	8.37:g.28575417T>C	ENSP00000220562:p.Phe614Ser					EXTL3_ENST00000523149.1_Missense_Mutation_p.F230S|EXTL3_ENST00000519886.1_Intron	p.F614S	NM_001440.2	NP_001431.1	O43909	EXTL3_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.107)|Kidney(114;0.129)|Colorectal(74;0.228)	3	2743	+		Ovarian(32;0.069)	614					D3DST8|O00225|Q53XT3	Missense_Mutation	SNP	ENST00000220562.4	37	c.1841T>C	CCDS6070.1	.	.	.	.	.	.	.	.	.	.	T	15.13	2.742180	0.49151	.	.	ENSG00000012232	ENST00000523149;ENST00000220562	D;D	0.95342	-3.26;-3.68	6.04	6.04	0.98038	.	0.000000	0.85682	D	0.000000	D	0.90686	0.7078	L	0.43152	1.355	0.80722	D	1	B	0.33413	0.411	B	0.22601	0.04	D	0.89002	0.3422	10	0.28530	T	0.3	-26.4569	16.5885	0.84745	0.0:0.0:0.0:1.0	.	614	O43909	EXTL3_HUMAN	S	230;614	ENSP00000428691:F230S;ENSP00000220562:F614S	ENSP00000220562:F614S	F	+	2	0	EXTL3	28631336	1.000000	0.71417	0.997000	0.53966	0.973000	0.67179	8.040000	0.89188	2.317000	0.78254	0.460000	0.39030	TTC		0.577	EXTL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219987.3	NM_001440		18	192	0	0	0	0.608945	0	18	192					C	28575417	T	C	28575417	3	2	77	1	0	0	0	0	1	0	0	0	5327	1783	62	4	1843	4	EXTL3	8	28575417	Missense_Mutation	SNP	T	TCGA-EJ-5542-01A-01D-1576-08	5384326	28575417	117788605	25	4034											
DMRT2	10655	broad.mit.edu	37	chr9	1053761	1053761	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggaaacagaataatttcgagCgcaaagctgtgtaccagagg	15	7	12	7	2	0	2	0	0	0	2	1	4	0	3	1	2	4	3	1	2	5	3	rs201585505		TCGA-EJ-5542-01A-01D-1576-08	TCGA-EJ-5542-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce0298b4-8456-4369-8916-c951b956dcc6	dd83711f-fea0-42e2-93ca-58faed54db89	g.chr9:1053761C>T	ENST00000358146.2	+	2	565	c.565C>T	c.(565-567)Cgc>Tgc	p.R189C	DMRT2_ENST00000259622.6_Missense_Mutation_p.R189C|DMRT2_ENST00000302441.6_Missense_Mutation_p.R189C|DMRT2_ENST00000382255.3_Missense_Mutation_p.R189C|DMRT2_ENST00000412350.2_Missense_Mutation_p.R189C|DMRT2_ENST00000382251.3_Missense_Mutation_p.R189C			Q9Y5R5	DMRT2_HUMAN	doublesex and mab-3 related transcription factor 2	189					embryonic skeletal system development (GO:0048706)|positive regulation of myotome development (GO:2000287)|regulation of somitogenesis (GO:0014807)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R189C(2)		large_intestine(1)|lung(1)|prostate(2)	4		all_lung(10;1.49e-09)|Lung NSC(10;1.86e-09)		Lung(218;0.0195)|GBM - Glioblastoma multiforme(50;0.0388)		TAATTTCGAGCGCAAAGCTGT	0.448													C|||	1	0.000199681	0	0.0014	5008	,	,		16604	0		0	False		,,,				2504	0					ENST00000259622.6																			2	Substitution - Missense(2)	p.R189C(2)	prostate(2)	large_intestine(1)|lung(1)|prostate(2)	4						c.(565-567)Cgc>Tgc		doublesex and mab-3 related transcription factor 2							86	91	89					9																	1053761		2203	4300	6503	SO:0001583	missense	10655				male gonad development|sex determination	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity	g.chr9:1053761C>T	AF130729	CCDS6444.1, CCDS6445.1	9p24.3	2008-07-21			ENSG00000173253	ENSG00000173253			2935	protein-coding gene	gene with protein product	"terra-like protein"	604935				10332030	Standard	NM_181872		Approved		uc003zha.3	Q9Y5R5	OTTHUMG00000019437	ENST00000358146.2:c.565C>T	9.37:g.1053761C>T	ENSP00000350865:p.Arg189Cys					DMRT2_ENST00000412350.2_Missense_Mutation_p.R189C|DMRT2_ENST00000382251.3_Missense_Mutation_p.R189C|DMRT2_ENST00000358146.2_Missense_Mutation_p.R189C|DMRT2_ENST00000382255.3_Missense_Mutation_p.R189C|DMRT2_ENST00000302441.6_Missense_Mutation_p.R189C	p.R189C			Q9Y5R5	DMRT2_HUMAN		Lung(218;0.0195)|GBM - Glioblastoma multiforme(50;0.0388)	2	565	+		all_lung(10;1.49e-09)|Lung NSC(10;1.86e-09)	189					B1ANC0|B9EGJ1|Q9NPG6|Q9NQR6	Missense_Mutation	SNP	ENST00000358146.2	37	c.565C>T	CCDS6444.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	21.5	4.165078	0.78339	.	.	ENSG00000173253	ENST00000382255;ENST00000382251;ENST00000412350;ENST00000302441;ENST00000358146;ENST00000259622	T;T;T;T;T;T	0.59906	0.23;1.46;0.23;1.46;1.46;0.23	5.72	5.72	0.89469	.	0.073111	0.49916	D	0.000135	T	0.76263	0.3963	M	0.67397	2.05	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.93;0.997;0.999	T	0.77480	-0.2572	10	0.87932	D	0	-15.5272	19.4782	0.94998	0.0:1.0:0.0:0.0	.	189;189;33	Q05C20;Q9Y5R5;Q5HYK2	.;DMRT2_HUMAN;.	C	189	ENSP00000371690:R189C;ENSP00000371686:R189C;ENSP00000397494:R189C;ENSP00000305785:R189C;ENSP00000350865:R189C;ENSP00000259622:R189C	ENSP00000259622:R189C	R	+	1	0	DMRT2	1043761	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	3.751000	0.55165	2.692000	0.91855	0.555000	0.69702	CGC		0.448	DMRT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051492.1	NM_006557		14	158	0	0	0	0.479597	0	14	158					T	1053761	C	T	1053761	3	4	77	1	0	0	0	0	1	0	0	0	4586	768	27	1	571	1	DMRT2	9	1053761	Missense_Mutation	SNP	C	TCGA-EJ-5542-01A-01D-1576-08		1053761	140159670	26	4035											
SETX	23064	broad.mit.edu	37	chr9	135205329	135205329	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagaatcgcttgcaaagagaCtgctgcccaagctgataacc	13	7	9	12	1	0	3	0	1	0	2	1	4	0	3	2	0	5	4	2	0	4	2			TCGA-EJ-5542-01A-01D-1576-08	TCGA-EJ-5542-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce0298b4-8456-4369-8916-c951b956dcc6	dd83711f-fea0-42e2-93ca-58faed54db89	g.chr9:135205329C>A	ENST00000224140.5	-	10	1838	c.1656G>T	c.(1654-1656)caG>caT	p.Q552H	SETX_ENST00000393220.1_Missense_Mutation_p.Q552H|SETX_ENST00000372169.2_Missense_Mutation_p.Q552H	NM_015046.5	NP_055861.3	Q7Z333	SETX_HUMAN	senataxin	552					cell death (GO:0008219)|circadian rhythm (GO:0007623)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|RNA processing (GO:0006396)|termination of RNA polymerase II transcription (GO:0006369)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	97		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)		TGCAAAGAGACTGCTGCCCAA	0.423																																						ENST00000372169.2																			0				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	97						c.(1654-1656)caG>caT		senataxin							88	93	91					9																	135205329		2203	4299	6502	SO:0001583	missense	23064				cell death|double-strand break repair|RNA processing	cytoplasm|nucleolus|nucleoplasm	ATP binding|DNA helicase activity	g.chr9:135205329C>A	AB014525	CCDS6947.1	9q34	2014-09-17	2005-11-29	2005-11-29	ENSG00000107290	ENSG00000107290			445	protein-coding gene	gene with protein product		608465	"amyotrophic lateral sclerosis 4", "spinocerebellar ataxia, recessive, non-Friedreich type 1"	ALS4, SCAR1		9497266, 11022012	Standard	NM_015046		Approved	KIAA0625, AOA2	uc004cbk.3	Q7Z333	OTTHUMG00000020834	ENST00000224140.5:c.1656G>T	9.37:g.135205329C>A	ENSP00000224140:p.Gln552His					SETX_ENST00000393220.1_Missense_Mutation_p.Q552H|SETX_ENST00000224140.5_Missense_Mutation_p.Q552H	p.Q552H			Q7Z333	SETX_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)	10	1838	-		Myeloproliferative disorder(178;0.204)	552					A2A396|B2RPB2|B5ME16|C9JQ10|O75120|Q3KQX4|Q5JUJ1|Q68DW5|Q6AZD7|Q7Z3J6|Q8WX33|Q9H9D1|Q9NVP9	Missense_Mutation	SNP	ENST00000224140.5	37	c.1656G>T	CCDS6947.1	.	.	.	.	.	.	.	.	.	.	C	7.314	0.615636	0.14129	.	.	ENSG00000107290	ENST00000224140;ENST00000372169;ENST00000393220	T;T;T	0.80909	-1.43;-1.43;-1.43	5.92	-11.8	0.00035	.	0.283408	0.34906	N	0.003600	T	0.52964	0.1767	N	0.19112	0.55	0.19945	N	0.999946	B;B;B	0.12630	0.005;0.006;0.005	B;B;B	0.14578	0.006;0.011;0.01	T	0.33979	-0.9847	10	0.22706	T	0.39	.	7.1099	0.25384	0.1507:0.5166:0.1526:0.1801	.	552;552;552	Q7Z333-3;Q7Z333;Q7Z333-4	.;SETX_HUMAN;.	H	552	ENSP00000224140:Q552H;ENSP00000361242:Q552H;ENSP00000376913:Q552H	ENSP00000224140:Q552H	Q	-	3	2	SETX	134195150	0.002000	0.14202	0.000000	0.03702	0.901000	0.52897	-1.831000	0.01698	-2.537000	0.00488	-1.107000	0.02091	CAG		0.423	SETX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054774.3	NM_015046		4	203	1	0	0.150653	0.150653	0.164904	4	203					A	135205329	C	A	135205329	3	1	77	1	0	0	0	0	1	0	0	0	14141	564	20	5	6445	5	SETX	9	135205329	Missense_Mutation	SNP	C	TCGA-EJ-5542-01A-01D-1576-08	134151568	135205329	6008102	27	4036											
EXD3	54932	broad.mit.edu	37	chr9	140243660	140243660	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	cctccggctcccagccaggtCctccgacaggtggaagcggg	6	5	14	16	3	0	0	0	0	0	0	4	2	4	1	6	5	2	1	6	5	1	0			TCGA-EJ-5542-01A-01D-1576-08	TCGA-EJ-5542-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce0298b4-8456-4369-8916-c951b956dcc6	dd83711f-fea0-42e2-93ca-58faed54db89	g.chr9:140243660C>G	ENST00000340951.4	-	16	1927	c.1732G>C	c.(1732-1734)Gac>Cac	p.D578H	EXD3_ENST00000342129.4_Missense_Mutation_p.D258H	NM_017820.3	NP_060290.3	Q9NX53	MUT7B_HUMAN	exonuclease 3'-5' domain containing 3	0								p.D578H(1)		NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(2)	12						CCAGCCAGGTCCTCCGACAGG	0.701																																						ENST00000340951.4																			1	Substitution - Missense(1)	p.D578H(1)	prostate(1)	NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(2)	12						c.(1732-1734)Gac>Cac		exonuclease 3'-5' domain containing 3							12	17	15					9																	140243660		1968	4141	6109	SO:0001583	missense	54932				nucleobase, nucleoside, nucleotide and nucleic acid metabolic process	intracellular	3'-5' exonuclease activity|nucleic acid binding	g.chr9:140243660C>G		CCDS48066.1, CCDS75942.1	9q34.3	2009-03-04			ENSG00000187609	ENSG00000187609			26023	protein-coding gene	gene with protein product							Standard	XM_005266093		Approved	LOC54932, FLJ20433, mut-7	uc004cmp.2	Q8N9H8	OTTHUMG00000156149	ENST00000340951.4:c.1732G>C	9.37:g.140243660C>G	ENSP00000340474:p.Asp578His					EXD3_ENST00000342129.4_Missense_Mutation_p.D258H	p.D578H	NM_017820.3	NP_060290.3	Q8N9H8	MUT7_HUMAN			16	1927	-			578					Q6P1M1|Q8IXT8	Missense_Mutation	SNP	ENST00000340951.4	37	c.1732G>C	CCDS48066.1	.	.	.	.	.	.	.	.	.	.	c	14.25	2.479601	0.44044	.	.	ENSG00000187609	ENST00000342129;ENST00000340951	T;T	0.67523	-0.27;0.47	3.35	-0.279	0.12890	Ribonuclease H-like (1);	0.341690	0.29080	U	0.013211	T	0.65015	0.2651	L	0.32530	0.975	0.09310	N	1	D;D	0.89917	1.0;0.999	D;D	0.72982	0.979;0.936	T	0.54906	-0.8223	10	0.59425	D	0.04	.	3.8704	0.09035	0.0:0.4153:0.1858:0.3989	.	258;578	Q8N9H8-3;Q8N9H8	.;MUT7_HUMAN	H	258;578	ENSP00000343705:D258H;ENSP00000340474:D578H	ENSP00000340474:D578H	D	-	1	0	EXD3	139363481	0.024000	0.19004	0.017000	0.16124	0.102000	0.19082	0.248000	0.18198	-0.138000	0.11434	0.430000	0.28490	GAC		0.701	EXD3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000343182.1	NM_017820		5	17	0	0	0	0.184627	0	5	17					G	140243660	C	G	140243660	3	3	77	1	0	0	0	0	1	0	0	0	5299	855	30	5	926	5	EXD3	9	140243660	Missense_Mutation	SNP	C	TCGA-EJ-5542-01A-01D-1576-08	5038331	140243660	969771	28	4037											
ANKRD26	22852	broad.mit.edu	37	chr10	27329050	27329050	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacagtgattttttttaagtTctaataatctttcacatgaa	13	18	4	6	0	3	2	1	2	2	0	3	2	3	2	0	0	0	1	0	0	4	8			TCGA-EJ-5542-01A-01D-1576-08	TCGA-EJ-5542-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce0298b4-8456-4369-8916-c951b956dcc6	dd83711f-fea0-42e2-93ca-58faed54db89	g.chr10:27329050T>C	ENST00000376087.4	-	21	2384	c.2219A>G	c.(2218-2220)gAa>gGa	p.E740G	ANKRD26_ENST00000376070.3_Missense_Mutation_p.E297G|ANKRD26_ENST00000436985.2_Missense_Mutation_p.E756G	NM_001256053.1|NM_014915.2	NP_001242982.1|NP_055730.2	Q9UPS8	ANR26_HUMAN	ankyrin repeat domain 26	739					glucose homeostasis (GO:0042593)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of organ growth (GO:0046621)|regulation of fatty acid metabolic process (GO:0019217)|regulation of feeding behavior (GO:0060259)	actin filament (GO:0005884)|centrosome (GO:0005813)		p.E740G(1)		breast(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|urinary_tract(2)	70						TTTTTTAAGTTCTAATAATCT	0.294																																						ENST00000376087.4																			1	Substitution - Missense(1)	p.E740G(1)	prostate(1)	breast(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|urinary_tract(2)	70						c.(2218-2220)gAa>gGa		ankyrin repeat domain 26							70	62	64					10																	27329050		1796	4066	5862	SO:0001583	missense	22852					centrosome		g.chr10:27329050T>C	AB028997	CCDS41499.1	10p12.1	2014-09-17			ENSG00000107890	ENSG00000107890		"Ankyrin repeat domain containing"	29186	protein-coding gene	gene with protein product		610855	"thrombocytopenia 2 (autosomal dominant)"	THC2		10470851, 21211618	Standard	NM_014915		Approved	KIAA1074	uc009xku.1	Q9UPS8	OTTHUMG00000017851	ENST00000376087.4:c.2219A>G	10.37:g.27329050T>C	ENSP00000365255:p.Glu740Gly					ANKRD26_ENST00000376070.3_Missense_Mutation_p.E297G|ANKRD26_ENST00000436985.2_Missense_Mutation_p.E756G	p.E740G	NM_001256053.1|NM_014915.2	NP_001242982.1|NP_055730.2	Q9UPS8	ANR26_HUMAN			21	2384	-			739					A6NH29|Q2TAZ3|Q6ZR14|Q9H1Q1|Q9NSK9|Q9NTD5|Q9NW69	Missense_Mutation	SNP	ENST00000376087.4	37	c.2219A>G	CCDS41499.1	.	.	.	.	.	.	.	.	.	.	T	17.87	3.495333	0.64186	.	.	ENSG00000107890	ENST00000376070;ENST00000376087;ENST00000436985	T;T;T	0.20738	2.05;2.05;2.05	5.18	4.03	0.46877	.	0.112714	0.37669	N	0.001994	T	0.42899	0.1223	M	0.71036	2.16	0.09310	N	1	D;D;D	0.71674	0.996;0.994;0.998	P;P;D	0.78314	0.872;0.748;0.991	T	0.26573	-1.0099	10	0.87932	D	0	.	10.6425	0.45600	0.0:0.0:0.1615:0.8385	.	740;739;756	Q9UPS8-3;Q9UPS8;A1L497	.;ANR26_HUMAN;.	G	297;740;756	ENSP00000365238:E297G;ENSP00000365255:E740G;ENSP00000405112:E756G	ENSP00000365238:E297G	E	-	2	0	ANKRD26	27369056	1.000000	0.71417	0.025000	0.17156	0.964000	0.63967	4.090000	0.57693	0.884000	0.36064	0.477000	0.44152	GAA		0.294	ANKRD26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047296.1			7	102	0	0	0	0.307466	0	7	102					C	27329050	T	C	27329050	3	2	77	1	0	0	0	0	1	0	0	0	654	1783	62	4	2969	4	ANKRD26	10	27329050	Missense_Mutation	SNP	T	TCGA-EJ-5542-01A-01D-1576-08		27329050	108205697	29	4038											
ERCC6	2074	broad.mit.edu	37	chr10	50666944	50666944	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagatttctcaatagttctcGgaagacacaagactgtgatg	13	11	9	8	1	2	4	1	1	2	3	4	5	2	5	0	1	0	1	0	1	4	3			TCGA-EJ-5542-01A-01D-1576-08	TCGA-EJ-5542-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce0298b4-8456-4369-8916-c951b956dcc6	dd83711f-fea0-42e2-93ca-58faed54db89	g.chr10:50666944G>A	ENST00000355832.5	-	21	4477	c.4399C>T	c.(4399-4401)Cga>Tga	p.R1467*	ERCC6_ENST00000542458.1_Nonsense_Mutation_p.R837*|ERCC6_ENST00000465653.1_5'Flank|RP11-123B3.2_ENST00000423283.1_RNA	NM_000124.2	NP_000115.1	Q03468	ERCC6_HUMAN	excision repair cross-complementation group 6	1467					activation of JNKK activity (GO:0007256)|activation of JUN kinase activity (GO:0007257)|ATP catabolic process (GO:0006200)|base-excision repair (GO:0006284)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|multicellular organism growth (GO:0035264)|nucleotide-excision repair (GO:0006289)|photoreceptor cell maintenance (GO:0045494)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|positive regulation of protein tyrosine kinase activity (GO:0061098)|pyrimidine dimer repair (GO:0006290)|regulation of DNA-templated transcription, elongation (GO:0032784)|response to gamma radiation (GO:0010332)|response to oxidative stress (GO:0006979)|response to superoxide (GO:0000303)|response to toxic substance (GO:0009636)|response to UV (GO:0009411)|response to UV-B (GO:0010224)|response to X-ray (GO:0010165)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase II promoter (GO:0006366)|transcription-coupled nucleotide-excision repair (GO:0006283)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|protein N-terminus binding (GO:0047485)|protein tyrosine kinase activator activity (GO:0030296)	p.R1467*(2)		breast(5)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						AATAGTTCTCGGAAGACACAA	0.458								Direct reversal of damage;Nucleotide excision repair (NER)																														ENST00000355832.5																			2	Substitution - Nonsense(2)	p.R1467*(2)	prostate(2)	breast(5)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						c.(4399-4401)Cga>Tga	Direct reversal of damage;Nucleotide excision repair (NER)	excision repair cross-complementing rodent repair deficiency, complementation group 6							118	117	118					10																	50666944		2203	4300	6503	SO:0001587	stop_gained	2074				base-excision repair|positive regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair	nucleolus|soluble fraction|transcription elongation factor complex	ATP binding|chromatin binding|DNA binding|DNA-dependent ATPase activity|helicase activity|protein C-terminus binding|protein complex binding|protein N-terminus binding	g.chr10:50666944G>A	L04791	CCDS7229.1	10q11	2014-09-17	2014-03-07		ENSG00000225830	ENSG00000225830			3438	protein-coding gene	gene with protein product	"Cockayne syndrome B protein"	609413	"excision repair cross-complementing rodent repair deficiency, complementation group 6"	CKN2		1339317, 19179336	Standard	NM_000124		Approved	CSB, RAD26, ARMD5	uc001jhs.5	Q03468	OTTHUMG00000018195	ENST00000355832.5:c.4399C>T	10.37:g.50666944G>A	ENSP00000348089:p.Arg1467*					ERCC6_ENST00000542458.1_Nonsense_Mutation_p.R837*|RP11-123B3.2_ENST00000423283.1_RNA	p.R1467*	NM_000124.2	NP_000115.1	Q03468	ERCC6_HUMAN			21	4477	-			1467					D3DX94|Q5W0L9	Nonsense_Mutation	SNP	ENST00000355832.5	37	c.4399C>T	CCDS7229.1	.	.	.	.	.	.	.	.	.	.	G	40	8.244733	0.98724	.	.	ENSG00000225830	ENST00000355832;ENST00000374129;ENST00000542458	.	.	.	5.48	3.5	0.40072	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-15.0879	15.3513	0.74389	0.0:0.0:0.6741:0.3259	.	.	.	.	X	1467;844;837	.	ENSP00000348089:R1467X	R	-	1	2	ERCC6	50336950	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.481000	0.45215	1.433000	0.47394	0.563000	0.77884	CGA		0.458	ERCC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047990.1	NM_000124		6	287	0	0	0	0.217242	0	6	287					A	50666944	G	A	50666944	4	1	77	1	0	0	0	0	0	1	0	0	5217	1124	39	2	86	2	ERCC6	10	50666944	Nonsense_Mutation	SNP	G	TCGA-EJ-5542-01A-01D-1576-08	23337894	50666944	84867803	30	4039											
PRG3	10394	broad.mit.edu	37	chr11	57147239	57147239	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atccagatcctggcctaggtCtgcctgtgtctctaggctct	5	13	10	13	0	3	1	0	0	3	1	6	1	5	1	4	3	1	1	4	3	2	2			TCGA-EJ-5542-01A-01D-1576-08	TCGA-EJ-5542-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce0298b4-8456-4369-8916-c951b956dcc6	dd83711f-fea0-42e2-93ca-58faed54db89	g.chr11:57147239C>T	ENST00000287143.2	-	3	212	c.103G>A	c.(103-105)Gac>Aac	p.D35N		NM_006093.3	NP_006084.2	Q8TBJ4	LPPR1_HUMAN	proteoglycan 3	0					nervous system development (GO:0007399)	integral component of membrane (GO:0016021)	catalytic activity (GO:0003824)	p.D35N(1)		large_intestine(3)|lung(5)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	13						TGGCCTAGGTCTGCCTGTGTC	0.557																																					Melanoma(154;1456 2519 19358 45229)	ENST00000287143.2																			1	Substitution - Missense(1)	p.D35N(1)	prostate(1)	large_intestine(3)|lung(5)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	13						c.(103-105)Gac>Aac		proteoglycan 3							79	74	76					11																	57147239		2201	4296	6497	SO:0001583	missense	10394				basophil activation|histamine biosynthetic process|immune response|leukotriene biosynthetic process|negative regulation of translation|neutrophil activation|positive regulation of interleukin-8 biosynthetic process|superoxide anion generation		sugar binding	g.chr11:57147239C>T	AF132209	CCDS7954.1	11q12.1	2008-02-05			ENSG00000156575	ENSG00000156575			9363	protein-coding gene	gene with protein product		606814				10318872, 11170744	Standard	NM_006093		Approved	MBPH	uc001njv.2	Q9Y2Y8	OTTHUMG00000167026	ENST00000287143.2:c.103G>A	11.37:g.57147239C>T	ENSP00000287143:p.Asp35Asn						p.D35N	NM_006093.3	NP_006084.2	Q9Y2Y8	PRG3_HUMAN			3	212	-			35					Q5VX23|Q9NXE2	Missense_Mutation	SNP	ENST00000287143.2	37	c.103G>A	CCDS7954.1	.	.	.	.	.	.	.	.	.	.	C	11.10	1.539624	0.27563	.	.	ENSG00000156575	ENST00000287143	T	0.05717	3.4	4.81	-0.565	0.11771	.	1.065830	0.07228	N	0.862027	T	0.07007	0.0178	L	0.43152	1.355	0.09310	N	1	P	0.46706	0.883	B	0.44224	0.444	T	0.31280	-0.9949	10	0.49607	T	0.09	-19.5831	3.4064	0.07343	0.3028:0.4375:0.0:0.2597	.	35	Q9Y2Y8	PRG3_HUMAN	N	35	ENSP00000287143:D35N	ENSP00000287143:D35N	D	-	1	0	PRG3	56903815	0.012000	0.17670	0.000000	0.03702	0.014000	0.08584	0.343000	0.19944	-0.166000	0.10890	-0.261000	0.10672	GAC		0.557	PRG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392467.1	NM_006093		45	115	0	0	0	0.870114	0	45	115					T	57147239	C	T	57147239	3	4	77	1	0	0	0	0	1	0	0	0	12480	913	32	3	590	3	PRG3	11	57147239	Missense_Mutation	SNP	C	TCGA-EJ-5542-01A-01D-1576-08		57147239	77859277	31	4040											
MPEG1	219972	broad.mit.edu	37	chr11	58979394	58979394	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	aagtcaggtagcatgttgggGttgatgaagaaatgcagcgg	12	9	16	4	1	1	3	1	2	0	1	1	3	1	3	0	4	3	5	0	4	4	3			TCGA-EJ-5542-01A-01D-1576-08	TCGA-EJ-5542-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce0298b4-8456-4369-8916-c951b956dcc6	dd83711f-fea0-42e2-93ca-58faed54db89	g.chr11:58979394G>T	ENST00000361050.3	-	1	1030	c.945C>A	c.(943-945)aaC>aaA	p.N315K	RN7SL42P_ENST00000579786.1_RNA	NM_001039396.1	NP_001034485.1	Q2M385	MPEG1_HUMAN	macrophage expressed 1	315	MACPF. {ECO:0000255|PROSITE- ProRule:PRU00745}.					integral component of membrane (GO:0016021)		p.N315K(1)		NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(21)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		all_epithelial(135;0.125)				GCATGTTGGGGTTGATGAAGA	0.552																																						ENST00000361050.3																			1	Substitution - Missense(1)	p.N315K(1)	prostate(1)	NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(21)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						c.(943-945)aaC>aaA		macrophage expressed 1							38	37	37					11																	58979394		1898	4101	5999	SO:0001583	missense	219972					integral to membrane		g.chr11:58979394G>T	AK097211	CCDS41650.1	11q12.1	2013-07-31				ENSG00000197629			29619	protein-coding gene	gene with protein product	"macrophage expressed gene 1"	610390				7888681, 23257510	Standard	NM_001039396		Approved	MPG1	uc001nnu.4	Q2M385		ENST00000361050.3:c.945C>A	11.37:g.58979394G>T	ENSP00000354335:p.Asn315Lys						p.N315K	NM_001039396.1	NP_001034485.1	Q2M385	MPEG1_HUMAN			1	1030	-		all_epithelial(135;0.125)	315			MACPF.		Q2M1T6|Q8TEF8	Missense_Mutation	SNP	ENST00000361050.3	37	c.945C>A	CCDS41650.1	.	.	.	.	.	.	.	.	.	.	G	1.315	-0.600960	0.03744	.	.	ENSG00000197629	ENST00000361050	D	0.82433	-1.61	5.53	1.41	0.22369	Membrane attack complex component/perforin (MACPF) domain (3);	0.256805	0.39759	N	0.001270	T	0.65026	0.2652	L	0.37630	1.12	0.20403	N	0.999908	B	0.09022	0.002	B	0.14578	0.011	T	0.46317	-0.9200	10	0.02654	T	1	-7.9164	2.7289	0.05221	0.1724:0.1972:0.5082:0.1223	.	315	Q2M385	MPEG1_HUMAN	K	315	ENSP00000354335:N315K	ENSP00000354335:N315K	N	-	3	2	MPEG1	58735970	0.990000	0.36364	0.625000	0.29200	0.864000	0.49448	0.414000	0.21164	0.270000	0.21984	0.655000	0.94253	AAC		0.552	MPEG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370027.1	NM_001039396		17	74	1	0	1.45105e-14	0.539581	1.78084e-14	17	74					T	58979394	G	T	58979394	3	4	77	1	0	0	0	0	1	0	0	0	9723	1252	44	5	1209	5	MPEG1	11	58979394	Missense_Mutation	SNP	G	TCGA-EJ-5542-01A-01D-1576-08	1832155	58979394	76027122	32	4041											
DAGLA	747	broad.mit.edu	37	chr11	61505663	61505663	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gctcctggatgtcctgcagcGaagcaccaagcccaaagtga	11	6	11	13	1	0	1	0	1	0	0	2	3	2	2	4	1	4	3	4	1	3	0			TCGA-EJ-5542-01A-01D-1576-08	TCGA-EJ-5542-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce0298b4-8456-4369-8916-c951b956dcc6	dd83711f-fea0-42e2-93ca-58faed54db89	g.chr11:61505663G>A	ENST00000257215.5	+	16	1756	c.1640G>A	c.(1639-1641)cGa>cAa	p.R547Q		NM_006133.2	NP_006124.1	Q9Y4D2	DGLA_HUMAN	diacylglycerol lipase, alpha	547					arachidonic acid metabolic process (GO:0019369)|blood coagulation (GO:0007596)|cell death (GO:0008219)|diacylglycerol catabolic process (GO:0046340)|endocannabinoid signaling pathway (GO:0071926)|neuroblast proliferation (GO:0007405)|neurotransmitter biosynthetic process (GO:0042136)|platelet activation (GO:0030168)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)	p.R547Q(1)		breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(2)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	43				READ - Rectum adenocarcinoma(4;0.219)		GTCCTGCAGCGAAGCACCAAG	0.637																																						ENST00000257215.5																			1	Substitution - Missense(1)	p.R547Q(1)	prostate(1)	breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(2)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	43						c.(1639-1641)cGa>cAa		diacylglycerol lipase, alpha							51	49	50					11																	61505663		2202	4299	6501	SO:0001583	missense	747				cell death|lipid catabolic process|platelet activation	integral to membrane|plasma membrane	acylglycerol lipase activity|metal ion binding|triglyceride lipase activity	g.chr11:61505663G>A	AB014559	CCDS31578.1	11q12.3	2008-03-18	2007-02-28	2007-02-28		ENSG00000134780	3.1.1.-		1165	protein-coding gene	gene with protein product	"neural stem cell-derived dendrite regulator"	614015	"chromosome 11 open reading frame 11"	C11orf11		9734811	Standard	NM_006133		Approved	KIAA0659, NSDDR, DAGLALPHA	uc001nsa.3	Q9Y4D2		ENST00000257215.5:c.1640G>A	11.37:g.61505663G>A	ENSP00000257215:p.Arg547Gln						p.R547Q	NM_006133.2	NP_006124.1	Q9Y4D2	DGLA_HUMAN		READ - Rectum adenocarcinoma(4;0.219)	16	1756	+			547					A7E233|Q6WQJ0	Missense_Mutation	SNP	ENST00000257215.5	37	c.1640G>A	CCDS31578.1	.	.	.	.	.	.	.	.	.	.	G	17.46	3.394013	0.62066	.	.	ENSG00000134780	ENST00000257215	T	0.25579	1.79	4.24	4.24	0.50183	.	0.058263	0.64402	D	0.000003	T	0.22126	0.0533	L	0.54323	1.7	0.52099	D	0.999944	P	0.43352	0.804	B	0.28011	0.085	T	0.16778	-1.0391	10	0.45353	T	0.12	-8.6492	17.0034	0.86386	0.0:0.0:1.0:0.0	.	547	Q9Y4D2	DGLA_HUMAN	Q	547	ENSP00000257215:R547Q	ENSP00000257215:R547Q	R	+	2	0	DAGLA	61262239	1.000000	0.71417	0.992000	0.48379	0.899000	0.52679	6.706000	0.74649	2.089000	0.63090	0.313000	0.20887	CGA		0.637	DAGLA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398516.1	NM_006133		4	45	0	0	0	0.150653	0	4	45					A	61505663	G	A	61505663	3	1	77	1	0	0	0	0	1	0	0	0	4226	1058	37	2	1698	2	DAGLA	11	61505663	Missense_Mutation	SNP	G	TCGA-EJ-5542-01A-01D-1576-08	2526269	61505663	73500853	33	4042											
PGM2L1	283209	broad.mit.edu	37	chr11	74053512	74053512	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaaaaggtacttactgatttCttattaggctggctactgtc	11	15	8	7	0	1	1	0	1	1	0	2	1	1	1	0	3	3	3	0	3	7	6	rs151007979		TCGA-EJ-5542-01A-01D-1576-08	TCGA-EJ-5542-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce0298b4-8456-4369-8916-c951b956dcc6	dd83711f-fea0-42e2-93ca-58faed54db89	g.chr11:74053512C>T	ENST00000298198.4	-	12	1937	c.1626G>A	c.(1624-1626)aaG>aaA	p.K542K		NM_173582.3	NP_775853.2	Q6PCE3	PGM2L_HUMAN	phosphoglucomutase 2-like 1	542					glucose metabolic process (GO:0006006)|phosphorylation (GO:0016310)	cytosol (GO:0005829)	glucose-1,6-bisphosphate synthase activity (GO:0047933)|intramolecular transferase activity, phosphotransferases (GO:0016868)	p.K542K(1)		NS(2)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	Breast(11;3.32e-06)					TTACTGATTTCTTATTAGGCT	0.353																																						ENST00000298198.4																			1	Substitution - coding silent(1)	p.K542K(1)	prostate(1)	NS(2)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						c.(1624-1626)aaG>aaA		phosphoglucomutase 2-like 1							49	51	50					11																	74053512		2200	4291	6491	SO:0001819	synonymous_variant	283209				glucose 1-phosphate metabolic process	cytosol	glucose-1,6-bisphosphate synthase activity|phosphoglucomutase activity	g.chr11:74053512C>T	AB019210	CCDS8231.1	11q13.3	2008-12-01			ENSG00000165434	ENSG00000165434			20898	protein-coding gene	gene with protein product	"glucose-1,6-bisphosphate synthase"	611610				17804405	Standard	NM_173582		Approved	FLJ32029, BM32A	uc001ovb.1	Q6PCE3	OTTHUMG00000168132	ENST00000298198.4:c.1626G>A	11.37:g.74053512C>T							p.K542K	NM_173582.3	NP_775853.2	Q6PCE3	PGM2L_HUMAN			12	1937	-	Breast(11;3.32e-06)		542					Q96MQ7|Q9UIK3	Silent	SNP	ENST00000298198.4	37	c.1626G>A	CCDS8231.1																																																																																				0.353	PGM2L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398324.1	NM_173582		13	163	0	0	0	0.435327	0	13	163					T	74053512	C	T	74053512	2	4	77	1	0	0	0	0	0	0	0	1	11799	912	32	3		3	PGM2L1	11	74053512	Silent	SNP	C	TCGA-EJ-5542-01A-01D-1576-08	12547849	74053512	60953004	34	4043											
SIDT2	51092	broad.mit.edu	37	chr11	117066583	117066583	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcgacttctttgacgaccaCgacatctggcacttcctctc	7	12	6	16	3	3	1	0	1	3	0	6	4	4	1	2	1	0	1	2	1	0	3			TCGA-EJ-5542-01A-01D-1576-08	TCGA-EJ-5542-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce0298b4-8456-4369-8916-c951b956dcc6	dd83711f-fea0-42e2-93ca-58faed54db89	g.chr11:117066583C>T	ENST00000324225.4	+	25	2919	c.2388C>T	c.(2386-2388)caC>caT	p.H796H	SIDT2_ENST00000532062.1_Silent_p.H88H|SIDT2_ENST00000431081.2_Silent_p.H793H	NM_001040455.1	NP_001035545.1	Q8NBJ9	SIDT2_HUMAN	SID1 transmembrane family, member 2	796					cell morphogenesis (GO:0000902)|dsRNA transport (GO:0033227)|glucose homeostasis (GO:0042593)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|response to glucose (GO:0009749)|type B pancreatic cell development (GO:0003323)|type B pancreatic cell proliferation (GO:0044342)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	RNA transmembrane transporter activity (GO:0051033)	p.H796H(1)		NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	36	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.69e-05)|Epithelial(105;0.000219)|all cancers(92;0.00144)		TTGACGACCACGACATCTGGC	0.602																																						ENST00000324225.4																			1	Substitution - coding silent(1)	p.H796H(1)	prostate(1)	NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	36						c.(2386-2388)caC>caT		SID1 transmembrane family, member 2							250	236	241					11																	117066583		2201	4296	6497	SO:0001819	synonymous_variant	51092					integral to membrane|lysosomal membrane		g.chr11:117066583C>T	AF151799	CCDS31682.1	11q23.3	2008-02-05			ENSG00000149577	ENSG00000149577			24272	protein-coding gene	gene with protein product						10810093, 12975309	Standard	NM_001040455		Approved	CGI-40	uc001pqh.1	Q8NBJ9	OTTHUMG00000167065	ENST00000324225.4:c.2388C>T	11.37:g.117066583C>T						SIDT2_ENST00000431081.2_Silent_p.H793H|SIDT2_ENST00000532062.1_Silent_p.H88H	p.H796H	NM_001040455.1	NP_001035545.1	Q8NBJ9	SIDT2_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.69e-05)|Epithelial(105;0.000219)|all cancers(92;0.00144)	25	2919	+	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)	796					Q8NBY7|Q9Y357	Silent	SNP	ENST00000324225.4	37	c.2388C>T	CCDS31682.1																																																																																				0.602	SIDT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392836.1	NM_015996		6	466	0	0	0	0.248553	0	6	466					T	117066583	C	T	117066583	2	4	77	1	0	0	0	0	0	0	0	1	14303	535	19	1		1	SIDT2	11	117066583	Silent	SNP	C	TCGA-EJ-5542-01A-01D-1576-08	43013071	117066583	17939933	35	4044											
NACA	4666	broad.mit.edu	37	chr12	57112065	57112065	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggggagggaggagtcgcagcTgggggagtgggggccccctt	5	5	23	8	1	0	0	0	0	0	0	1	4	0	4	2	8	1	2	2	8	0	1			TCGA-EJ-5542-01A-01D-1576-08	TCGA-EJ-5542-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce0298b4-8456-4369-8916-c951b956dcc6	dd83711f-fea0-42e2-93ca-58faed54db89	g.chr12:57112065T>C	ENST00000454682.1	-	3	3530	c.3249A>G	c.(3247-3249)ccA>ccG	p.P1083P	NACA_ENST00000550952.1_Intron|NACA_ENST00000546392.1_Intron|NACA_ENST00000393891.4_Intron|NACA_ENST00000548563.1_Intron|NACA_ENST00000551793.1_Intron|NACA_ENST00000552540.1_Intron|NACA_ENST00000356769.3_Intron	NM_001113203.2	NP_001106674.2	E9PAV3	NACAM_HUMAN	nascent polypeptide-associated complex alpha subunit	1083	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						GAGTCGCAGCTGGGGGAGTGG	0.672			T	BCL6	NHL																																	ENST00000454682.1				Dom	yes		12	12q23-q24.1	4666	T	nascent-polypeptide-associated complex alpha polypeptide			L	BCL6		NHL		0				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						c.(3247-3249)ccA>ccG		nascent polypeptide-associated complex alpha subunit							38	45	42					12																	57112065		1327	3019	4346	SO:0001819	synonymous_variant	4666				interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation	nascent polypeptide-associated complex|nucleus	DNA binding	g.chr12:57112065T>C	X80909	CCDS31837.1, CCDS44925.1, CCDS44925.2	12q23-q24.1	2008-09-05	2007-04-20		ENSG00000196531	ENSG00000196531			7629	protein-coding gene	gene with protein product		601234	"nascent-polypeptide-associated complex alpha polypeptide"			8047162	Standard	NM_001113202		Approved	NACA1	uc001sma.2	E9PAV3		ENST00000454682.1:c.3249A>G	12.37:g.57112065T>C						NACA_ENST00000550952.1_Intron|NACA_ENST00000393891.4_Intron|NACA_ENST00000546392.1_Intron|NACA_ENST00000548563.1_Intron|NACA_ENST00000551793.1_Intron|NACA_ENST00000552540.1_Intron|NACA_ENST00000356769.3_Intron	p.P1083P	NM_001113203.2	NP_001106674.2	Q13765	NACA_HUMAN			3	3530	-			0						Silent	SNP	ENST00000454682.1	37	c.3249A>G																																																																																					0.672	NACA-201	KNOWN	basic	protein_coding	protein_coding		NM_005594		34	73	0	0	0	0.812448	0	34	73					C	57112065	T	C	57112065	2	2	77	1	0	0	0	0	0	0	0	1	10133	1567	55	4		4	NACA	12	57112065	Silent	SNP	T	TCGA-EJ-5542-01A-01D-1576-08		57112065	76739830	36	4045											
CMA1	1215	broad.mit.edu	37	chr14	24976626	24976626	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aaggaaaccaccacaaaattTtgagggaccgttggaagtta	16	8	10	7	1	0	1	0	1	0	0	0	4	0	4	3	3	1	2	3	3	6	4			TCGA-EJ-5542-01A-01D-1576-08	TCGA-EJ-5542-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce0298b4-8456-4369-8916-c951b956dcc6	dd83711f-fea0-42e2-93ca-58faed54db89	g.chr14:24976626T>C	ENST00000250378.3	-	2	174	c.145A>G	c.(145-147)Aaa>Gaa	p.K49E	RP11-80A15.1_ENST00000555109.1_Intron|CMA1_ENST00000206446.4_Intron	NM_001836.3	NP_001827.1	P23946	CMA1_HUMAN	chymase 1, mast cell	49	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				angiotensin maturation (GO:0002003)|cellular protein metabolic process (GO:0044267)|cellular response to glucose stimulus (GO:0071333)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|interleukin-1 beta biosynthetic process (GO:0050720)|midbrain development (GO:0030901)|peptide metabolic process (GO:0006518)|positive regulation of angiogenesis (GO:0045766)|regulation of inflammatory response (GO:0050727)	extracellular region (GO:0005576)|intracellular (GO:0005622)	peptide binding (GO:0042277)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)	p.K49E(1)		kidney(1)|lung(8)|pancreas(1)|prostate(1)	11				GBM - Glioblastoma multiforme(265;0.0271)		CCACAAAATTTTGAGGGACCG	0.502																																						ENST00000250378.3																			1	Substitution - Missense(1)	p.K49E(1)	prostate(1)	kidney(1)|lung(8)|pancreas(1)|prostate(1)	11						c.(145-147)Aaa>Gaa		chymase 1, mast cell							150	145	146					14																	24976626		2203	4300	6503	SO:0001583	missense	1215				interleukin-1 beta biosynthetic process|proteolysis	extracellular region	serine-type endopeptidase activity	g.chr14:24976626T>C		CCDS9630.1	14q12	2012-08-30			ENSG00000092009	ENSG00000092009	3.4.21.39		2097	protein-coding gene	gene with protein product		118938				8468056	Standard	NM_001836		Approved		uc001wpp.1	P23946	OTTHUMG00000140181	ENST00000250378.3:c.145A>G	14.37:g.24976626T>C	ENSP00000250378:p.Lys49Glu					RP11-80A15.1_ENST00000555109.1_Intron|CMA1_ENST00000206446.4_Intron	p.K49E	NM_001836.3	NP_001827.1	P23946	CMA1_HUMAN		GBM - Glioblastoma multiforme(265;0.0271)	2	174	-			49			Peptidase S1.		B5BUM8|Q16018|Q3SY36|Q3SY37|Q9UDH5	Missense_Mutation	SNP	ENST00000250378.3	37	c.145A>G	CCDS9630.1	.	.	.	.	.	.	.	.	.	.	T	2.445	-0.327743	0.05314	.	.	ENSG00000092009	ENST00000250378	T	0.58940	0.3	5.01	-10.0	0.00425	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	14.714400	0.00166	N	0.000000	T	0.26521	0.0648	N	0.08118	0	0.09310	N	1	B	0.15141	0.012	B	0.16722	0.016	T	0.27191	-1.0081	10	0.07325	T	0.83	.	3.3567	0.07172	0.3879:0.0929:0.0719:0.4473	.	49	P23946	CMA1_HUMAN	E	49	ENSP00000250378:K49E	ENSP00000250378:K49E	K	-	1	0	CMA1	24046466	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-6.554000	0.00061	-3.878000	0.00096	-1.117000	0.02048	AAA		0.502	CMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276535.2			94	274	0	0	0	0.870114	0	94	274					C	24976626	T	C	24976626	3	2	77	1	0	0	0	0	1	0	0	0	3574	1850	64	4	614	4	CMA1	14	24976626	Missense_Mutation	SNP	T	TCGA-EJ-5542-01A-01D-1576-08		24976626	82372914	37	4046											
PTPN21	11099	broad.mit.edu	37	chr14	88983485	88983485	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaaggcacataaaacaccaCtccaaaatagacggtaggtt	17	7	8	9	1	0	2	0	1	0	1	1	2	1	2	2	3	1	3	2	3	7	4			TCGA-EJ-5542-01A-01D-1576-08	TCGA-EJ-5542-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce0298b4-8456-4369-8916-c951b956dcc6	dd83711f-fea0-42e2-93ca-58faed54db89	g.chr14:88983485C>T	ENST00000556564.1	-	3	585	c.301G>A	c.(301-303)Gtg>Atg	p.V101M	PTPN21_ENST00000554628.1_5'UTR|RP11-507K2.2_ENST00000555444.1_RNA|PTPN21_ENST00000328736.3_Missense_Mutation_p.V101M	NM_007039.3	NP_008970.2	Q16825	PTN21_HUMAN	protein tyrosine phosphatase, non-receptor type 21	101	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	protein tyrosine phosphatase activity (GO:0004725)	p.V101M(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|liver(1)|lung(7)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						TAAAACACCACTCCAAAATAG	0.413																																						ENST00000556564.1																			2	Substitution - Missense(2)	p.V101M(2)	prostate(2)	breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|liver(1)|lung(7)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						c.(301-303)Gtg>Atg		protein tyrosine phosphatase, non-receptor type 21							123	111	115					14																	88983485		2203	4300	6503	SO:0001583	missense	11099					cytoplasm|cytoskeleton	binding|protein tyrosine phosphatase activity	g.chr14:88983485C>T	X79510	CCDS9884.1	14q31	2011-06-09				ENSG00000070778		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"	9651	protein-coding gene	gene with protein product		603271				7519780	Standard	NM_007039		Approved	PTPD1, PTPRL10	uc001xwv.4	Q16825		ENST00000556564.1:c.301G>A	14.37:g.88983485C>T	ENSP00000452414:p.Val101Met					PTPN21_ENST00000328736.3_Missense_Mutation_p.V101M|PTPN21_ENST00000554628.1_5'UTR	p.V101M	NM_007039.3	NP_008970.2	Q16825	PTN21_HUMAN			3	585	-			101			FERM.			Missense_Mutation	SNP	ENST00000556564.1	37	c.301G>A	CCDS9884.1	.	.	.	.	.	.	.	.	.	.	C	19.06	3.754227	0.69648	.	.	ENSG00000070778	ENST00000328736;ENST00000556564;ENST00000555243	D;D;D	0.84070	-1.8;-1.8;-1.8	5.77	5.77	0.91146	FERM, N-terminal (1);Band 4.1 domain (1);FERM domain (1);FERM conserved site (1);	0.000000	0.64402	D	0.000002	D	0.93446	0.7909	M	0.91972	3.26	0.53005	D	0.999966	D;D	0.89917	1.0;1.0	D;D	0.91635	0.997;0.999	D	0.94062	0.7327	10	0.72032	D	0.01	.	19.9983	0.97395	0.0:1.0:0.0:0.0	.	101;101	G3V3S6;Q16825	.;PTN21_HUMAN	M	101	ENSP00000330276:V101M;ENSP00000452414:V101M;ENSP00000451401:V101M	ENSP00000330276:V101M	V	-	1	0	PTPN21	88053238	1.000000	0.71417	1.000000	0.80357	0.127000	0.20565	7.818000	0.86416	2.724000	0.93272	0.561000	0.74099	GTG		0.413	PTPN21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410303.1			45	117	0	0	0	0.859065	0	45	117					T	88983485	C	T	88983485	3	4	77	1	0	0	0	0	1	0	0	0	12786	565	20	3	3291	3	PTPN21	14	88983485	Missense_Mutation	SNP	C	TCGA-EJ-5542-01A-01D-1576-08	64006859	88983485	18366055	38	4047											
RCOR1	23186	broad.mit.edu	37	chr14	103174893	103174893	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgtgatggatcgccatgcccGgaaacaaaaacgggagcggg	12	5	15	9	4	0	1	0	1	0	0	1	4	0	4	2	4	4	0	2	4	3	0			TCGA-EJ-5542-01A-01D-1576-08	TCGA-EJ-5542-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce0298b4-8456-4369-8916-c951b956dcc6	dd83711f-fea0-42e2-93ca-58faed54db89	g.chr14:103174893G>A	ENST00000570597.1	+	6	743	c.743G>A	c.(742-744)cGg>cAg	p.R248Q	RCOR1_ENST00000262241.6_Missense_Mutation_p.R251Q			Q9UKL0	RCOR1_HUMAN	REST corepressor 1	248	Interaction with HDAC1.				blood coagulation (GO:0007596)|histone H4 deacetylation (GO:0070933)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|viral process (GO:0016032)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	12						CGCCATGCCCGGAAACAAAAA	0.463																																						ENST00000262241.6																			0				NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	12						c.(751-753)cGg>cAg		REST corepressor 1							122	132	129					14																	103174893		2203	4300	6503	SO:0001583	missense	23186				blood coagulation|histone H4 deacetylation|interspecies interaction between organisms	transcriptional repressor complex	protein binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|transcription regulatory region DNA binding	g.chr14:103174893G>A	AF155595	CCDS9974.1, CCDS9974.2	14q32.33	2004-04-16	2004-04-16	2004-04-16		ENSG00000089902			17441	protein-coding gene	gene with protein product		607675	"REST corepressor"	RCOR		10449787	Standard	NM_015156		Approved	COREST, KIAA0071	uc001ymb.4	Q9UKL0		ENST00000570597.1:c.743G>A	14.37:g.103174893G>A	ENSP00000459789:p.Arg248Gln					RCOR1_ENST00000570597.1_Missense_Mutation_p.R248Q	p.R251Q	NM_015156.3	NP_055971.2	Q9UKL0	RCOR1_HUMAN			6	978	+			248			Interaction with HDAC1.		Q15044|Q6P2I9|Q86VG5	Missense_Mutation	SNP	ENST00000570597.1	37	c.752G>A		.	.	.	.	.	.	.	.	.	.	G	35	5.433273	0.96150	.	.	ENSG00000089902	ENST00000262241	T	0.47869	0.83	5.88	4.99	0.66335	.	0.000000	0.85682	D	0.000000	T	0.34106	0.0886	L	0.39467	1.215	0.80722	D	1	P	0.44429	0.835	B	0.25405	0.06	T	0.35773	-0.9775	10	0.72032	D	0.01	-19.777	15.22	0.73303	0.0675:0.0:0.9325:0.0	.	248	Q9UKL0	RCOR1_HUMAN	Q	248	ENSP00000262241:R248Q	ENSP00000262241:R248Q	R	+	2	0	RCOR1	102244646	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.441000	0.97557	1.487000	0.48415	0.655000	0.94253	CGG		0.463	RCOR1-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_015156		5	337	0	0	0	0.184627	0	5	337					A	103174893	G	A	103174893	3	1	77	1	0	0	0	0	1	0	0	0	13182	1116	39	2	765	2	RCOR1	14	103174893	Missense_Mutation	SNP	G	TCGA-EJ-5542-01A-01D-1576-08	14191408	103174893	4174647	39	4048											
FBN1	2200	broad.mit.edu	37	chr15	48788323	48788323	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atgtttttagatcaggtttgTagataaatcccttggggcag	10	15	11	5	0	1	2	1	0	0	2	2	2	2	2	1	3	0	4	1	3	4	7			TCGA-EJ-5542-01A-01D-1576-08	TCGA-EJ-5542-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce0298b4-8456-4369-8916-c951b956dcc6	dd83711f-fea0-42e2-93ca-58faed54db89	g.chr15:48788323T>C	ENST00000316623.5	-	20	2848	c.2393A>G	c.(2392-2394)tAc>tGc	p.Y798C		NM_000138.4	NP_000129	P35555	FBN1_HUMAN	fibrillin 1	798	EGF-like 12; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|kidney development (GO:0001822)|sequestering of BMP in extracellular matrix (GO:0035582)|sequestering of TGFbeta in extracellular matrix (GO:0035583)|skeletal system development (GO:0001501)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)	p.Y798C(1)		NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		ATCAGGTTTGTAGATAAATCC	0.353																																						ENST00000316623.5																			1	Substitution - Missense(1)	p.Y798C(1)	prostate(1)	NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139						c.(2392-2394)tAc>tGc		fibrillin 1							127	132	130					15																	48788323		2197	4296	6493	SO:0001583	missense	2200				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding	g.chr15:48788323T>C	X63556	CCDS32232.1	15q21.1	2014-09-17	2006-04-25			ENSG00000166147			3603	protein-coding gene	gene with protein product	"Marfan syndrome"	134797	"fibrillin 1 (Marfan syndrome)"	FBN, MFS1, WMS		10036187, 12525539	Standard	NM_000138		Approved	MASS, OCTD, SGS	uc001zwx.2	P35555		ENST00000316623.5:c.2393A>G	15.37:g.48788323T>C	ENSP00000325527:p.Tyr798Cys						p.Y798C	NM_000138.4	NP_000129.3	P35555	FBN1_HUMAN		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)	20	2848	-		all_lung(180;0.00279)	798			EGF-like 12; calcium-binding.		B2RUU0|D2JYH6|Q15972|Q75N87	Missense_Mutation	SNP	ENST00000316623.5	37	c.2393A>G	CCDS32232.1	.	.	.	.	.	.	.	.	.	.	T	19.71	3.878769	0.72294	.	.	ENSG00000166147	ENST00000316623	D	0.91996	-2.95	6.06	6.06	0.98353	EGF-like region, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.055891	0.85682	D	0.000000	D	0.94951	0.8367	M	0.76574	2.34	0.80722	D	1	D	0.63046	0.992	P	0.60345	0.873	D	0.94383	0.7606	10	0.41790	T	0.15	.	15.4485	0.75253	0.0:0.0:0.0:1.0	.	798	P35555	FBN1_HUMAN	C	798	ENSP00000325527:Y798C	ENSP00000325527:Y798C	Y	-	2	0	FBN1	46575615	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	3.266000	0.51569	2.323000	0.78572	0.528000	0.53228	TAC		0.353	FBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417355.1			41	110	0	0	0	0.819951	0	41	110					C	48788323	T	C	48788323	3	2	77	1	0	0	0	0	1	0	0	0	5702	1638	57	4	6410	4	FBN1	15	48788323	Missense_Mutation	SNP	T	TCGA-EJ-5542-01A-01D-1576-08		48788323	53743069	40	4049											
NLRC3	197358	broad.mit.edu	37	chr16	3613171	3613171	+	RNA	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtcagcctggccagggccccGctctccatggcctcctccac	4	7	10	20	1	2	0	1	0	1	0	5	0	4	0	8	3	1	1	8	3	0	0			TCGA-EJ-5542-01A-01D-1576-08	TCGA-EJ-5542-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce0298b4-8456-4369-8916-c951b956dcc6	dd83711f-fea0-42e2-93ca-58faed54db89	g.chr16:3613171G>A	ENST00000301749.7	-	0	2172				NLRC3_ENST00000448023.2_RNA|NLRC3_ENST00000419350.2_RNA|NLRC3_ENST00000359128.5_RNA|NLRC3_ENST00000603507.1_RNA|NLRC3_ENST00000324659.8_RNA	NM_178844.2	NP_849172.2	Q7RTR2	NLRC3_HUMAN	NLR family, CARD domain containing 3						I-kappaB kinase/NF-kappaB signaling (GO:0007249)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|regulation of protein ubiquitination (GO:0031396)|response to lipopolysaccharide (GO:0032496)|T cell activation (GO:0042110)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)	p.S636S(1)		breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(16)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						CCAGGGCCCCGCTCTCCATGG	0.697																																						ENST00000301749.7																			1	Substitution - coding silent(1)	p.S636S(1)	prostate(1)	breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(16)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34								NLR family, CARD domain containing 3							9	13	12					16																	3613171		2083	4195	6278			197358				I-kappaB kinase/NF-kappaB cascade|negative regulation of NF-kappaB transcription factor activity|T cell activation	cytoplasm	ATP binding	g.chr16:3613171G>A	BK001112	CCDS73817.1	16p13.3	2014-03-25			ENSG00000167984	ENSG00000167984		"Nucleotide-binding domain and leucine rich repeat containing"	29889	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 3", "NOD-like receptor C3"	615648				15705585, 12766759	Standard	NM_178844		Approved	CLR16.2, FLJ00348, NOD3	uc010btn.3	Q7RTR2	OTTHUMG00000177561		16.37:g.3613171G>A						NLRC3_ENST00000419350.2_RNA|NLRC3_ENST00000324659.8_RNA|NLRC3_ENST00000603507.1_RNA|NLRC3_ENST00000359128.5_RNA|NLRC3_ENST00000448023.2_RNA		NM_178844.2	NP_849172.2	Q7RTR2	NLRC3_HUMAN			0	2172	-								Q5EY36|Q8NF48|Q8NI01|Q8NI02|Q8TEL3	RNA	SNP	ENST00000301749.7	37																																																																																						0.697	NLRC3-201	KNOWN	basic|appris_principal	protein_coding	polymorphic_pseudogene		NM_178844		4	13	0	0	0	0.184627	0	4	13					A	3613171	G	A	3613171	1	1	77	0	1	0	0	0	0	0	0	0	10468	1078	38	1		1	NLRC3	16	3613171	RNA	SNP	G	TCGA-EJ-5542-01A-01D-1576-08		3613171	86741582	41	4050											
ZNF423	23090	broad.mit.edu	37	chr16	49672120	49672120	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctggttggcgtgggcttggtGgatatgggcgagcagtgtgt	4	12	20	5	2	0	0	0	0	0	0	0	2	0	1	0	6	1	3	0	6	1	3			TCGA-EJ-5542-01A-01D-1576-08	TCGA-EJ-5542-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce0298b4-8456-4369-8916-c951b956dcc6	dd83711f-fea0-42e2-93ca-58faed54db89	g.chr16:49672120G>T	ENST00000561648.1	-	4	996	c.943C>A	c.(943-945)Cac>Aac	p.H315N	ZNF423_ENST00000562871.1_Missense_Mutation_p.H255N|ZNF423_ENST00000563137.2_Missense_Mutation_p.H255N|ZNF423_ENST00000535559.1_Missense_Mutation_p.H198N|ZNF423_ENST00000562520.1_Missense_Mutation_p.H255N|ZNF423_ENST00000262383.2_Missense_Mutation_p.H315N|ZNF423_ENST00000567169.1_Missense_Mutation_p.H198N	NM_001271620.1	NP_001258549.1	Q2M1K9	ZN423_HUMAN	zinc finger protein 423	315					cell differentiation (GO:0030154)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.H315N(3)		breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	89		all_cancers(37;0.0155)				TGGGCTTGGTGGATATGGGCG	0.622																																						ENST00000561648.1																			3	Substitution - Missense(3)	p.H315N(3)	prostate(3)	breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	89						c.(943-945)Cac>Aac		zinc finger protein 423							123	87	99					16																	49672120		2198	4300	6498	SO:0001583	missense	23090				cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	g.chr16:49672120G>T	AB018303	CCDS32445.1, CCDS61930.1	16q12	2014-01-28				ENSG00000102935		"Zinc fingers, C2H2-type"	16762	protein-coding gene	gene with protein product	"OLF-1/EBF associated zinc finger gene", " Smad- and Olf-interacting zinc finger protein", "early B-cell factor associated zinc finger protein"	604557				9872452, 10660046	Standard	NM_001271620		Approved	KIAA0760, OAZ, Roaz, Ebfaz, Zfp104, NPHP14, JBTS19	uc031qwd.1	Q2M1K9		ENST00000561648.1:c.943C>A	16.37:g.49672120G>T	ENSP00000455426:p.His315Asn					ZNF423_ENST00000562520.1_Missense_Mutation_p.H255N|ZNF423_ENST00000262383.2_Missense_Mutation_p.H315N|ZNF423_ENST00000567169.1_Missense_Mutation_p.H198N|ZNF423_ENST00000535559.1_Missense_Mutation_p.H198N|ZNF423_ENST00000562871.1_Missense_Mutation_p.H255N|ZNF423_ENST00000563137.2_Missense_Mutation_p.H255N	p.H315N	NM_001271620.1	NP_001258549.1	Q2M1K9	ZN423_HUMAN			4	996	-		all_cancers(37;0.0155)	315					O94860|Q76N04|Q9NZ13	Missense_Mutation	SNP	ENST00000561648.1	37	c.943C>A	CCDS32445.1	.	.	.	.	.	.	.	.	.	.	G	10.30	1.312100	0.23821	.	.	ENSG00000102935	ENST00000262383;ENST00000535559	T;T	0.27557	1.66;1.66	5.0	5.0	0.66597	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);	0.102460	0.64402	D	0.000004	T	0.15522	0.0374	N	0.04746	-0.17	0.33667	D	0.610497	B	0.17268	0.021	B	0.15052	0.012	T	0.16335	-1.0406	9	.	.	.	.	13.9801	0.64299	0.0:0.1515:0.8485:0.0	.	315	Q2M1K9	ZN423_HUMAN	N	315;198	ENSP00000262383:H315N;ENSP00000442321:H198N	.	H	-	1	0	ZNF423	48229621	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	4.877000	0.63086	2.331000	0.79229	0.561000	0.74099	CAC		0.622	ZNF423-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000423258.1	NM_015069		4	112	1	0	0.184627	0.184627	0.199397	4	112					T	49672120	G	T	49672120	3	4	77	1	0	0	0	0	1	0	0	0	17895	1348	47	5	2931	5	ZNF423	16	49672120	Missense_Mutation	SNP	G	TCGA-EJ-5542-01A-01D-1576-08	46058949	49672120	40682633	42	4051											
SMG6	23293	broad.mit.edu	37	chr17	2076132	2076132	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttacagaaatcagccagcgtCgaccatacatccacagcaac	15	6	6	14	2	1	1	1	0	0	1	3	2	2	1	3	0	6	1	3	0	4	2			TCGA-EJ-5542-01A-01D-1576-08	TCGA-EJ-5542-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce0298b4-8456-4369-8916-c951b956dcc6	dd83711f-fea0-42e2-93ca-58faed54db89	g.chr17:2076132C>T	ENST00000263073.6	-	13	3227	c.3177G>A	c.(3175-3177)tcG>tcA	p.S1059S	SMG6_ENST00000544865.1_Silent_p.S1028S|SMG6_ENST00000536871.2_Silent_p.S151S|SMG6_ENST00000354901.4_Silent_p.S151S	NM_017575.4	NP_060045.4	Q86US8	EST1A_HUMAN	SMG6 nonsense mediated mRNA decay factor	1059					gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of dephosphorylation (GO:0035303)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|telomere maintenance (GO:0000723)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleus (GO:0005634)|telomerase holoenzyme complex (GO:0005697)	endoribonuclease activity (GO:0004521)|metal ion binding (GO:0046872)|telomeric DNA binding (GO:0042162)	p.S1059S(2)		NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(10)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						CAGCCAGCGTCGACCATACAT	0.453																																					Melanoma(59;28 1088 11621 25887 46638 50814)	ENST00000544865.1																			2	Substitution - coding silent(2)	p.S1059S(2)	prostate(2)	NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(10)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						c.(3082-3084)tcG>tcA		SMG6 nonsense mediated mRNA decay factor							93	77	83					17																	2076132		2203	4300	6503	SO:0001819	synonymous_variant	23293				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation|telomere maintenance	chromosome, telomeric region|cytosol|nucleolus|telomerase holoenzyme complex	endoribonuclease activity|metal ion binding|protein binding|telomeric DNA binding	g.chr17:2076132C>T	AB018275	CCDS11016.1, CCDS58498.1	17p13.3	2013-07-02	2013-07-02	2006-02-16	ENSG00000070366	ENSG00000070366			17809	protein-coding gene	gene with protein product	"EST1 telomerase component homolog A (S. cerevisiae)"	610963	"chromosome 17 open reading frame 31", "smg-6 homolog, nonsense mediated mRNA decay factor (C. elegans)"	C17orf31		12676087, 12699629	Standard	NM_017575		Approved	KIAA0732, SMG-6, EST1A	uc002fub.1	Q86US8	OTTHUMG00000177578	ENST00000263073.6:c.3177G>A	17.37:g.2076132C>T						SMG6_ENST00000354901.4_Silent_p.S151S|SMG6_ENST00000536871.2_Silent_p.S151S|SMG6_ENST00000263073.5_Silent_p.S1059S	p.S1028S			Q86US8	EST1A_HUMAN			13	3594	-			1059					B7Z874|O94837|Q86VH6|Q9UF60	Silent	SNP	ENST00000263073.6	37	c.3084G>A	CCDS11016.1																																																																																				0.453	SMG6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437826.3			13	61	0	0	0	0.411799	0	13	61					T	2076132	C	T	2076132	2	4	77	1	0	0	0	0	0	0	0	1	14797	871	31	2		2	SMG6	17	2076132	Silent	SNP	C	TCGA-EJ-5542-01A-01D-1576-08		2076132	79119078	43	4052											
GSDMB	55876	broad.mit.edu	37	chr17	38062140	38062140	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccagaatggcttttgcacgCgcttctaccaagaccccagc	9	9	8	15	2	1	2	0	0	1	2	2	2	2	2	4	1	3	3	4	1	3	4	rs144949338		TCGA-EJ-5542-01A-01D-1576-08	TCGA-EJ-5542-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce0298b4-8456-4369-8916-c951b956dcc6	dd83711f-fea0-42e2-93ca-58faed54db89	g.chr17:38062140C>T	ENST00000394179.1	-	8	1102	c.972G>A	c.(970-972)gcG>gcA	p.A324A	GSDMB_ENST00000418519.1_Silent_p.A329A|GSDMB_ENST00000360317.3_Silent_p.A329A|GSDMB_ENST00000309481.7_Silent_p.A316A|GSDMB_ENST00000520542.1_Silent_p.A320A|GSDMB_ENST00000394175.2_Silent_p.A307A			Q8TAX9	GSDMB_HUMAN	gasdermin B	324						cytoplasm (GO:0005737)		p.A307A(1)|p.A329A(1)		breast(2)|endometrium(3)|large_intestine(6)|lung(6)|pancreas(1)|prostate(1)|stomach(2)	21						CTTTTGCACGCGCTTCTACCA	0.567																																						ENST00000394175.2																			2	Substitution - coding silent(2)	p.A307A(1)|p.A329A(1)	prostate(2)	breast(2)|endometrium(3)|large_intestine(6)|lung(6)|pancreas(1)|prostate(1)|stomach(2)	21						c.(919-921)gcG>gcA		gasdermin B		C	,,,	2,4404	4.2+/-10.8	0,2,2201	115	117	117		948,987,960,921	-8.6	0	17	dbSNP_134	117	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	GSDMB	NM_001042471.1,NM_001165958.1,NM_001165959.1,NM_018530.2	,,,	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	,,,	316/404,329/417,320/408,307/395	38062140	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	55876					cytoplasm		g.chr17:38062140C>T	AF119884	CCDS11354.1, CCDS42313.1, CCDS54119.1, CCDS54120.1	17q21.2	2008-07-31	2008-07-31	2008-07-31	ENSG00000073605	ENSG00000073605			23690	protein-coding gene	gene with protein product		611221	"gasdermin-like"	GSDML		12883658, 15010812, 17350798	Standard	NM_001042471		Approved	PRO2521	uc010cwj.3	Q8TAX9	OTTHUMG00000133248	ENST00000394179.1:c.972G>A	17.37:g.38062140C>T						GSDMB_ENST00000394179.1_Silent_p.A324A|GSDMB_ENST00000418519.1_Silent_p.A329A|GSDMB_ENST00000520542.1_Silent_p.A320A|GSDMB_ENST00000309481.7_Silent_p.A316A|GSDMB_ENST00000360317.3_Silent_p.A329A	p.A307A	NM_018530.2	NP_061000.2	Q8TAX9	GSDMB_HUMAN			6	1144	-			324					B4DKK7|Q7Z377|Q8WY76|Q9NX71|Q9P163	Silent	SNP	ENST00000394179.1	37	c.921G>A		.	.	.	.	.	.	.	.	.	.	C	3.197	-0.164607	0.06502	4.54E-4	0.0	ENSG00000073605	ENST00000420491	.	.	.	4.3	-8.59	0.00893	.	.	.	.	.	T	0.30324	0.0761	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.34900	-0.9810	4	.	.	.	.	12.0183	0.53329	0.0:0.1285:0.1054:0.7661	.	.	.	.	H	261	.	.	R	-	2	0	GSDMB	35315666	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-3.334000	0.00508	-2.418000	0.00566	-2.080000	0.00379	CGC		0.567	GSDMB-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_018530		80	191	0	0	0	0.870114	0	80	191					T	38062140	C	T	38062140	2	4	77	1	0	0	0	0	0	0	0	1	6817	755	27	1		1	GSDMB	17	38062140	Silent	SNP	C	TCGA-EJ-5542-01A-01D-1576-08	35986008	38062140	43133070	44	4053											
ZNF521	25925	broad.mit.edu	37	chr18	22804629	22804629	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	accatatggcaggccattgaTatcaagtttcaccagatctt	12	12	7	10	0	3	2	2	1	1	1	3	2	3	2	3	2	0	2	3	2	3	5			TCGA-EJ-5542-01A-01D-1576-08	TCGA-EJ-5542-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce0298b4-8456-4369-8916-c951b956dcc6	dd83711f-fea0-42e2-93ca-58faed54db89	g.chr18:22804629T>C	ENST00000361524.3	-	4	3401	c.3253A>G	c.(3253-3255)Atc>Gtc	p.I1085V	ZNF521_ENST00000538137.2_Missense_Mutation_p.I1085V|ZNF521_ENST00000584787.1_Missense_Mutation_p.I865V|ZNF521_ENST00000579111.1_5'Flank	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521	1085					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein domain specific binding (GO:0019904)	p.I1085V(2)		NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					AGGCCATTGATATCAAGTTTC	0.532			T	PAX5	ALL																																	ENST00000361524.3				Dom	yes		18	18q11.2	25925	T	zinc finger protein 521			L	PAX5		ALL		2	Substitution - Missense(2)	p.I1085V(2)	prostate(2)	NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149						c.(3253-3255)Atc>Gtc		zinc finger protein 521							75	69	71					18																	22804629		2203	4300	6503	SO:0001583	missense	25925				cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein domain specific binding|zinc ion binding	g.chr18:22804629T>C	AK027354	CCDS32806.1	18q11.2	2013-01-08				ENSG00000198795		"Zinc fingers, C2H2-type"	24605	protein-coding gene	gene with protein product	"early hematopoietic zinc finger"	610974				11984006, 14630787	Standard	NM_015461		Approved	EHZF, Evi3	uc002kvk.2	Q96K83		ENST00000361524.3:c.3253A>G	18.37:g.22804629T>C	ENSP00000354794:p.Ile1085Val					ZNF521_ENST00000584787.1_Missense_Mutation_p.I865V|ZNF521_ENST00000538137.2_Missense_Mutation_p.I1085V	p.I1085V	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN			4	3401	-	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)		1085					A3QVP7|B0YJB7|Q8IXI0|Q8TES6|Q9C065|Q9HAL5|Q9UFK4	Missense_Mutation	SNP	ENST00000361524.3	37	c.3253A>G	CCDS32806.1	.	.	.	.	.	.	.	.	.	.	T	9.842	1.191306	0.21954	.	.	ENSG00000198795	ENST00000361524;ENST00000538137;ENST00000399425	T;T	0.07688	3.17;3.2	5.86	5.86	0.93980	.	0.000000	0.85682	D	0.000000	T	0.04318	0.0119	N	0.04203	-0.255	0.34452	D	0.700829	B	0.16166	0.016	B	0.14023	0.01	T	0.36040	-0.9764	10	0.30854	T	0.27	-35.3969	10.5804	0.45252	0.0:0.0715:0.0:0.9285	.	1085	Q96K83	ZN521_HUMAN	V	1085;1119;1085	ENSP00000354794:I1085V;ENSP00000382352:I1085V	ENSP00000354794:I1085V	I	-	1	0	ZNF521	21058627	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.839000	0.62810	2.241000	0.73720	0.528000	0.53228	ATC		0.532	ZNF521-001	KNOWN	overlapping_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446781.2	NM_015461		7	120	0	0	0	0.248553	0	7	120					C	22804629	T	C	22804629	3	2	77	1	0	0	0	0	1	0	0	0	17962	1406	49	4	702	4	ZNF521	18	22804629	Missense_Mutation	SNP	T	TCGA-EJ-5542-01A-01D-1576-08		22804629	55272619	45	4054											
MLLT1	4298	broad.mit.edu	37	chr19	6216424	6216424	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ccgggccgtcacctggagtcCctccccgggttggtcttgcc	2	9	13	17	3	2	0	1	0	1	0	4	1	4	1	7	4	1	1	7	4	0	2			TCGA-EJ-5542-01A-01D-1576-08	TCGA-EJ-5542-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce0298b4-8456-4369-8916-c951b956dcc6	dd83711f-fea0-42e2-93ca-58faed54db89	g.chr19:6216424C>T	ENST00000252674.7	-	8	1462	c.1299G>A	c.(1297-1299)agG>agA	p.R433R	MLLT1_ENST00000585588.1_5'UTR	NM_005934.3	NP_005925.2	Q03111	ENL_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 1	433					negative regulation of protein kinase activity (GO:0006469)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)	DNA binding (GO:0003677)	p.R433R(1)		endometrium(3)|kidney(3)|large_intestine(2)|lung(5)|prostate(2)|skin(2)	17						ACCTGGAGTCCCTCCCCGGGT	0.711			T	MLL	AL																																	ENST00000252674.7				Dom	yes		19	19p13.3	4298	T	"myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 1 (ENL)"			L	MLL		AL		1	Substitution - coding silent(1)	p.R433R(1)	prostate(1)	endometrium(3)|kidney(3)|large_intestine(2)|lung(5)|prostate(2)|skin(2)	17						c.(1297-1299)agG>agA		myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 1							16	15	16					19																	6216424		2198	4294	6492	SO:0001819	synonymous_variant	4298				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleolus	DNA binding|protein binding	g.chr19:6216424C>T		CCDS12160.1	19p13.3	2012-10-04	2001-11-28		ENSG00000130382	ENSG00000130382			7134	protein-coding gene	gene with protein product		159556	"myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 1"				Standard	XM_005259561		Approved	ENL, LTG19, YEATS1	uc002mek.3	Q03111	OTTHUMG00000180757	ENST00000252674.7:c.1299G>A	19.37:g.6216424C>T						MLLT1_ENST00000585588.1_5'UTR	p.R433R	NM_005934.3	NP_005925.2	Q03111	ENL_HUMAN			8	1462	-			433					Q14768	Silent	SNP	ENST00000252674.7	37	c.1299G>A	CCDS12160.1																																																																																				0.711	MLLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452909.1	NM_005934		3	15	0	0	0	0.115264	0	3	15					T	6216424	C	T	6216424	2	4	77	1	0	0	0	0	0	0	0	1	9625	622	22	3		3	MLLT1	19	6216424	Silent	SNP	C	TCGA-EJ-5542-01A-01D-1576-08		6216424	52912559	46	4055											
OR10H2	26538	broad.mit.edu	37	chr19	15839017	15839017	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtctggagcgagcgcagccTccacacgcccatgtacctct	7	7	10	17	4	2	0	0	0	2	0	3	2	3	1	4	1	4	2	4	1	1	1			TCGA-EJ-5542-01A-01D-1576-08	TCGA-EJ-5542-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce0298b4-8456-4369-8916-c951b956dcc6	dd83711f-fea0-42e2-93ca-58faed54db89	g.chr19:15839017T>C	ENST00000305899.3	+	1	184	c.164T>C	c.(163-165)cTc>cCc	p.L55P		NM_013939.2	NP_039227.1	O60403	O10H2_HUMAN	olfactory receptor, family 10, subfamily H, member 2	55						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(1)	27	all_hematologic(1;0.0517)|Acute lymphoblastic leukemia(2;0.074)					GAGCGCAGCCTCCACACGCCC	0.612																																						ENST00000305899.3																			0				breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(1)	27						c.(163-165)cTc>cCc		olfactory receptor, family 10, subfamily H, member 2							203	165	178					19																	15839017		2203	4300	6503	SO:0001583	missense	26538				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr19:15839017T>C	AC004597	CCDS12333.1	19p13.1	2012-08-09				ENSG00000171942		"GPCR / Class A : Olfactory receptors"	8173	protein-coding gene	gene with protein product							Standard	NM_013939		Approved		uc002nbm.2	O60403		ENST00000305899.3:c.164T>C	19.37:g.15839017T>C	ENSP00000306095:p.Leu55Pro						p.L55P	NM_013939.2	NP_039227.1	O60403	O10H2_HUMAN			1	184	+	all_hematologic(1;0.0517)|Acute lymphoblastic leukemia(2;0.074)		55					Q6IFQ1|Q96R58	Missense_Mutation	SNP	ENST00000305899.3	37	c.164T>C	CCDS12333.1	.	.	.	.	.	.	.	.	.	.	.	16.13	3.035306	0.54896	.	.	ENSG00000171942	ENST00000305899	T	0.14893	2.47	2.88	2.88	0.33553	GPCR, rhodopsin-like superfamily (1);	0.000000	0.41097	D	0.000955	T	0.56659	0.2000	H	0.99325	4.515	0.58432	D	0.999997	D	0.89917	1.0	D	0.91635	0.999	T	0.68232	-0.5463	10	0.87932	D	0	.	8.94	0.35725	0.0:0.0:0.0:1.0	.	55	O60403	O10H2_HUMAN	P	55	ENSP00000306095:L55P	ENSP00000306095:L55P	L	+	2	0	OR10H2	15700017	1.000000	0.71417	0.993000	0.49108	0.949000	0.60115	6.809000	0.75211	1.186000	0.42985	0.438000	0.28831	CTC		0.612	OR10H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460917.1			4	196	0	0	0	0.184627	0	4	196					C	15839017	T	C	15839017	3	2	77	1	0	0	0	0	1	0	0	0	10906	1551	54	4	166	4	OR10H2	19	15839017	Missense_Mutation	SNP	T	TCGA-EJ-5542-01A-01D-1576-08	9622593	15839017	43289966	47	4056											
KCNK6	9424	broad.mit.edu	37	chr19	38810914	38810914	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acgctgatcaccaccgtgggTacgtaagcgcctcaccgcaa	10	6	10	15	5	2	1	2	1	0	0	2	1	2	1	4	1	2	4	4	1	3	2			TCGA-EJ-5542-01A-01D-1576-08	TCGA-EJ-5542-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce0298b4-8456-4369-8916-c951b956dcc6	dd83711f-fea0-42e2-93ca-58faed54db89	g.chr19:38810914T>C	ENST00000263372.3	+	1	429		c.e1+2		KCNK6_ENST00000588137.1_Splice_Site	NM_004823.1	NP_004814.1	Q9Y257	KCNK6_HUMAN	potassium channel, subfamily K, member 6						negative regulation of systemic arterial blood pressure (GO:0003085)|potassium ion transport (GO:0006813)|regulation of resting membrane potential (GO:0060075)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	inward rectifier potassium channel activity (GO:0005242)	p.?(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(3)	17	all_cancers(60;5.83e-07)		Lung(45;0.00047)|LUSC - Lung squamous cell carcinoma(53;0.000613)		Ibutilide(DB00308)|Quinidine(DB00908)	CCACCGTGGGTACGTAAGCGC	0.647																																						ENST00000263372.3																			1	Unknown(1)	p.?(1)	prostate(1)	endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(3)	17						c.e1+2		potassium channel, subfamily K, member 6	Ibutilide(DB00308)|Quinidine(DB00908)						22	24	23					19																	38810914		2199	4294	6493	SO:0001630	splice_region_variant	9424					voltage-gated potassium channel complex	inward rectifier potassium channel activity	g.chr19:38810914T>C	AF117708	CCDS12513.1	19q13.1	2012-03-07				ENSG00000099337		"Potassium channels", "Voltage-gated ion channels / Potassium channels, Two-P"	6281	protein-coding gene	gene with protein product		603939				10075682, 10393428, 16382106	Standard	NM_004823		Approved	K2p6.1, TWIK-2	uc002oic.3	Q9Y257		ENST00000263372.3:c.322+2T>C	19.37:g.38810914T>C						KCNK6_ENST00000588137.1_Splice_Site		NM_004823.1	NP_004814.1	Q9Y257	KCNK6_HUMAN	Lung(45;0.00047)|LUSC - Lung squamous cell carcinoma(53;0.000613)		1	429	+	all_cancers(60;5.83e-07)							Q9HB47	Splice_Site	SNP	ENST00000263372.3	37		CCDS12513.1	.	.	.	.	.	.	.	.	.	.	T	21.6	4.171354	0.78452	.	.	ENSG00000099337	ENST00000263372	.	.	.	4.57	4.57	0.56435	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.9676	0.53044	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	KCNK6	43502754	1.000000	0.71417	0.986000	0.45419	0.882000	0.50991	7.285000	0.78660	1.938000	0.56188	0.454000	0.30748	.		0.647	KCNK6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460524.1	NM_004823	Intron	3	50	0	0	0	0.115264	0	3	50					C	38810914	T	C	38810914	5	2	77	1	0	0	0	0	0	0	1	0	8070	1652	57	4	326	4	KCNK6	19	38810914	Splice_Site	SNP	T	TCGA-EJ-5542-01A-01D-1576-08	22971897	38810914	20318069	48	4057											
GRIK5	2901	broad.mit.edu	37	chr19	42569514	42569514	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agacgctcaccgcggccacaCactgtctgatcatccaggat	10	7	9	15	3	3	2	2	1	1	1	4	3	4	3	3	2	0	1	3	2	0	0			TCGA-EJ-5542-01A-01D-1576-08	TCGA-EJ-5542-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce0298b4-8456-4369-8916-c951b956dcc6	dd83711f-fea0-42e2-93ca-58faed54db89	g.chr19:42569514C>T	ENST00000262895.3	-	2	104	c.105G>A	c.(103-105)gtG>gtA	p.V35V	GRIK5_ENST00000593562.1_Silent_p.V35V|GRIK5_ENST00000301218.4_Silent_p.V35V	NM_002088.4	NP_002079.3	Q16478	GRIK5_HUMAN	glutamate receptor, ionotropic, kainate 5	35					cellular response to glucose stimulus (GO:0071333)|establishment of localization in cell (GO:0051649)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|positive regulation of neuron apoptotic process (GO:0043525)|protein retention in ER lumen (GO:0006621)|receptor clustering (GO:0043113)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of synaptic vesicle fusion to presynaptic membrane (GO:0031630)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|kainate selective glutamate receptor complex (GO:0032983)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	extracellular-glutamate-gated ion channel activity (GO:0005234)|kainate selective glutamate receptor activity (GO:0015277)	p.V35V(2)		breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	35		Prostate(69;0.059)				CGCGGCCACACACTGTCTGAT	0.607																																						ENST00000262895.3																			2	Substitution - coding silent(2)	p.V35V(2)	prostate(2)	breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	35						c.(103-105)gtG>gtA		glutamate receptor, ionotropic, kainate 5	L-Glutamic Acid(DB00142)						53	50	51					19																	42569514		2203	4300	6503	SO:0001819	synonymous_variant	2901					cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity	g.chr19:42569514C>T		CCDS12595.1	19q13.2	2012-08-29			ENSG00000105737	ENSG00000105737		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4583	protein-coding gene	gene with protein product		600283		GRIK2		7527545	Standard	NM_002088		Approved	GluK5, KA2	uc002osj.2	Q16478	OTTHUMG00000044573	ENST00000262895.3:c.105G>A	19.37:g.42569514C>T						GRIK5_ENST00000301218.4_Silent_p.V35V|GRIK5_ENST00000593562.1_Silent_p.V35V	p.V35V	NM_002088.4	NP_002079.3	Q16478	GRIK5_HUMAN			2	104	-		Prostate(69;0.059)	35					Q8WWG8	Silent	SNP	ENST00000262895.3	37	c.105G>A	CCDS12595.1																																																																																				0.607	GRIK5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463453.1			4	84	0	0	0	0.184627	0	4	84					T	42569514	C	T	42569514	2	4	77	1	0	0	0	0	0	0	0	1	6777	465	17	3		3	GRIK5	19	42569514	Silent	SNP	C	TCGA-EJ-5542-01A-01D-1576-08	3758600	42569514	16559469	49	4058											
RSPH6A	81492	broad.mit.edu	37	chr19	46299171	46299171	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctcctcctcctcgccctcctCctcctcctctgtggctccca	1	12	4	24	1	1	0	0	0	1	0	10	0	9	0	9	1	0	1	9	1	0	0	rs200690733		TCGA-EJ-5542-01A-01D-1576-08	TCGA-EJ-5542-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce0298b4-8456-4369-8916-c951b956dcc6	dd83711f-fea0-42e2-93ca-58faed54db89	g.chr19:46299171C>A	ENST00000221538.3	-	6	2252	c.2110G>T	c.(2110-2112)Gag>Tag	p.E704*	RSPH6A_ENST00000600188.1_Nonsense_Mutation_p.E440*|RSPH6A_ENST00000597055.1_3'UTR	NM_030785.3	NP_110412.1	Q9H0K4	RSH6A_HUMAN	radial spoke head 6 homolog A (Chlamydomonas)	704	Glu-rich.					intracellular (GO:0005622)				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	32						tcgccctcctcctcctcctcT	0.592																																						ENST00000221538.3																			0				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	32						c.(2110-2112)Gag>Tag		radial spoke head 6 homolog A (Chlamydomonas)							77	83	81					19																	46299171		2203	4300	6503	SO:0001587	stop_gained	81492					intracellular		g.chr19:46299171C>A	AL136761	CCDS12675.1	19q13.3	2010-02-17	2009-11-18	2009-11-18	ENSG00000104941	ENSG00000104941			14241	protein-coding gene	gene with protein product		607548	"radial spokehead-like 1"	RSHL1		11237735	Standard	NM_030785		Approved	RSP4, RSP6, RSPH4B	uc002pdm.3	Q9H0K4		ENST00000221538.3:c.2110G>T	19.37:g.46299171C>A	ENSP00000221538:p.Glu704*					RSPH6A_ENST00000600188.1_Nonsense_Mutation_p.E440*|RSPH6A_ENST00000597055.1_3'UTR	p.E704*	NM_030785.3	NP_110412.1	Q9H0K4	RSH6A_HUMAN			6	2252	-			704			Glu-rich.		Q53FE2|Q6PEZ9	Nonsense_Mutation	SNP	ENST00000221538.3	37	c.2110G>T	CCDS12675.1	.	.	.	.	.	.	.	.	.	.	c	28.5	4.923733	0.92319	.	.	ENSG00000104941	ENST00000221538	.	.	.	4.25	4.25	0.50352	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.43913	D	0.996555	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-9.9982	14.6161	0.68549	0.0:1.0:0.0:0.0	.	.	.	.	X	704	.	ENSP00000221538:E704X	E	-	1	0	RSPH6A	50991011	0.403000	0.25319	0.960000	0.40013	0.136000	0.21042	1.804000	0.38873	2.382000	0.81193	0.551000	0.68910	GAG		0.592	RSPH6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461657.1			4	185	1	0	0.150653	0.150653	0.164904	4	185					A	46299171	C	A	46299171	4	1	77	1	0	0	0	0	0	1	0	0	13707	864	30	5	47	5	RSPH6A	19	46299171	Nonsense_Mutation	SNP	C	TCGA-EJ-5542-01A-01D-1576-08	3729657	46299171	12829812	50	4059											
SH3BP1	23616	broad.mit.edu	37	chr22	38039665	38039665	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ctccaggctcagtcaggcaaCcaagaattcaggcagcagtc	12	6	10	13	0	3	1	3	0	0	1	5	1	4	1	2	3	2	4	2	3	3	1			TCGA-EJ-5542-01A-01D-1576-08	TCGA-EJ-5542-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce0298b4-8456-4369-8916-c951b956dcc6	dd83711f-fea0-42e2-93ca-58faed54db89	g.chr22:38039665C>A	ENST00000357436.4	+	7	801	c.488C>A	c.(487-489)aCc>aAc	p.T163N	Z83844.1_ENST00000456099.1_RNA|SH3BP1_ENST00000495174.1_3'UTR|SH3BP1_ENST00000336738.5_Missense_Mutation_p.T163N|SH3BP1_ENST00000599616.1_Missense_Mutation_p.T99N|SH3BP1_ENST00000442465.2_Missense_Mutation_p.T163N	NM_018957.3	NP_061830.3	Q9Y3L3	3BP1_HUMAN	SH3-domain binding protein 1	163	BAR. {ECO:0000255|PROSITE- ProRule:PRU00361}.				signal transduction (GO:0007165)	cytoplasm (GO:0005737)	GTPase activator activity (GO:0005096)	p.T163N(1)		breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	Melanoma(58;0.0574)					AGTCAGGCAACCAAGAATTCA	0.587											OREG0026546	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000599616.1																			1	Substitution - Missense(1)	p.T163N(1)	prostate(1)	breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						c.(295-297)aCc>aAc		SH3-domain binding protein 1							141	104	117					22																	38039665		2203	4300	6503	SO:0001583	missense	23616				signal transduction	cytoplasm	GTPase activator activity|SH3 domain binding	g.chr22:38039665C>A		CCDS13952.2	22q13.1	2011-07-04			ENSG00000100092	ENSG00000100092		"Rho GTPase activating proteins"	10824	protein-coding gene	gene with protein product						10591208, 12029088	Standard	NM_018957		Approved	ARHGAP43	uc003ati.3	Q9Y3L3	OTTHUMG00000030996	ENST00000357436.4:c.488C>A	22.37:g.38039665C>A	ENSP00000350018:p.Thr163Asn		OREG0026546	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	875	SH3BP1_ENST00000357436.4_Missense_Mutation_p.T163N|SH3BP1_ENST00000495174.1_3'UTR|SH3BP1_ENST00000336738.5_Missense_Mutation_p.T163N|Z83844.1_ENST00000456099.1_RNA|SH3BP1_ENST00000442465.2_Missense_Mutation_p.T163N	p.T99N			Q9Y3L3	3BP1_HUMAN			5	296	+	Melanoma(58;0.0574)		163			BAR.		Q5R3N0|Q6IBZ2|Q6ZVL9|Q96HQ5|Q9NSQ9	Missense_Mutation	SNP	ENST00000357436.4	37	c.296C>A	CCDS13952.2	.	.	.	.	.	.	.	.	.	.	C	15.30	2.792833	0.50102	.	.	ENSG00000100092	ENST00000357436;ENST00000336738;ENST00000442465;ENST00000397014	T;T;T	0.62788	-0.0;-0.0;-0.0	5.2	4.17	0.49024	BAR (2);	0.506534	0.19504	N	0.112669	T	0.44932	0.1317	L	0.32530	0.975	0.29387	N	0.862887	B;P;B;B;P	0.36392	0.162;0.551;0.144;0.302;0.551	B;B;B;B;B	0.34489	0.133;0.184;0.074;0.158;0.129	T	0.34950	-0.9808	10	0.16420	T	0.52	.	8.0468	0.30553	0.1577:0.7617:0.0:0.0805	.	163;77;99;163;77	F5GZA8;E7EUD3;Q6ZT62;Q9Y3L3;Q6ZTJ5	.;.;.;3BP1_HUMAN;.	N	163;163;163;77	ENSP00000350018:T163N;ENSP00000337213:T163N;ENSP00000395126:T163N	ENSP00000337213:T163N	T	+	2	0	SH3BP1	36369611	1.000000	0.71417	0.997000	0.53966	0.892000	0.51952	1.566000	0.36396	1.333000	0.45449	0.561000	0.74099	ACC		0.587	SH3BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075884.4	NM_018957		4	78	1	0	0.150653	0.150653	0.164904	4	78					A	38039665	C	A	38039665	3	1	77	1	0	0	0	0	1	0	0	0	14244	507	18	5	514	5	SH3BP1	22	38039665	Missense_Mutation	SNP	C	TCGA-EJ-5542-01A-01D-1576-08		38039665	13264901	51	4060											
PRDM16	63976	broad.mit.edu	37	chr1	3328642	3328642	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acgggctcggacctggacagCgacgtggacagcgaccctga	9	4	15	13	5	0	1	0	1	0	0	1	6	0	4	2	4	2	1	2	4	0	0			TCGA-EJ-7115-01A-11D-2114-08	TCGA-EJ-7115-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67324969-d5d7-4ae7-b8f7-26b11d6c0439	6ee4d1f0-da1d-4650-9d06-7f1bc0b11407	g.chr1:3328642C>T	ENST00000270722.5	+	9	1930	c.1881C>T	c.(1879-1881)agC>agT	p.S627S	PRDM16_ENST00000514189.1_Silent_p.S628S|PRDM16_ENST00000441472.2_Silent_p.S627S|PRDM16_ENST00000378391.2_Silent_p.S627S|PRDM16_ENST00000511072.1_Silent_p.S628S|PRDM16_ENST00000512462.1_3'UTR|PRDM16_ENST00000378398.3_Silent_p.S628S|PRDM16_ENST00000442529.2_Silent_p.S627S			Q9HAZ2	PRD16_HUMAN	PR domain containing 16	627					brown fat cell differentiation (GO:0050873)|negative regulation of granulocyte differentiation (GO:0030853)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neurogenesis (GO:0022008)|palate development (GO:0060021)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cellular respiration (GO:0043457)|somatic stem cell maintenance (GO:0035019)|tongue development (GO:0043586)|transcription, DNA-templated (GO:0006351)|white fat cell differentiation (GO:0050872)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)			breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(3)	59	all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111)	all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134)		Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137)		ACCTGGACAGCGACGTGGACA	0.687			T	EVI1	"MDS, AML"																																	ENST00000378398.3				Dom	yes		1	1p36.23-p33	63976	T	PR domain containing 16			L	EVI1		"MDS, AML"		0				breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(3)	59						c.(1882-1884)agC>agT		PR domain containing 16							64	74	71					1																	3328642		2163	4243	6406	SO:0001819	synonymous_variant	63976				brown fat cell differentiation|negative regulation of granulocyte differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cellular respiration|transcription, DNA-dependent	transcriptional repressor complex	protein binding|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding	g.chr1:3328642C>T	AF294278	CCDS41236.1, CCDS44048.1, CCDS41236.2, CCDS44048.2	1p36.23-p33	2013-01-08			ENSG00000142611	ENSG00000142611		"Zinc fingers, C2H2-type"	14000	protein-coding gene	gene with protein product	"MDS1/EVI1-like", "PR-domain zinc finger protein 16", "transcription factor MEL1"	605557				11050005	Standard	NM_199454		Approved	MEL1, PFM13, KIAA1675, MGC166915	uc001akf.3	Q9HAZ2	OTTHUMG00000000581	ENST00000270722.5:c.1881C>T	1.37:g.3328642C>T						PRDM16_ENST00000442529.2_Silent_p.S627S|PRDM16_ENST00000441472.2_Silent_p.S627S|PRDM16_ENST00000378391.2_Silent_p.S627S|PRDM16_ENST00000270722.5_Silent_p.S627S|PRDM16_ENST00000512462.1_3'UTR|PRDM16_ENST00000514189.1_Silent_p.S628S|PRDM16_ENST00000511072.1_Silent_p.S628S	p.S628S			Q9HAZ2	PRD16_HUMAN		Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137)	10	1966	+	all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111)	all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134)	627					A6NHQ8|B1AJP7|B1AJP8|B1AJP9|B1WB48|Q8WYJ9|Q9C0I8	Silent	SNP	ENST00000270722.5	37	c.1884C>T	CCDS41236.2																																																																																				0.687	PRDM16-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000001382.3	NM_022114		36	113	0	0	0	0.812448	0	36	113					T	3328642	C	T	3328642	2	4	78	1	0	0	0	0	0	0	0	1	12457	767	27	1		1	PRDM16	1	3328642	Silent	SNP	C	TCGA-EJ-7115-01A-11D-2114-08		3328642	245921979	1	4061											
PADI3	51702	broad.mit.edu	37	chr1	17594365	17594365	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtctgtcatggtcctgcggaCgcagggccctgcagccctct	4	9	13	15	2	3	0	1	0	2	0	4	1	4	1	3	3	3	2	3	3	0	0	rs146396025	byFrequency	TCGA-EJ-7115-01A-11D-2114-08	TCGA-EJ-7115-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67324969-d5d7-4ae7-b8f7-26b11d6c0439	6ee4d1f0-da1d-4650-9d06-7f1bc0b11407	g.chr1:17594365C>T	ENST00000375460.3	+	6	600	c.560C>T	c.(559-561)aCg>aTg	p.T187M		NM_016233.2	NP_057317.2	Q9ULW8	PADI3_HUMAN	peptidyl arginine deiminase, type III	187					protein citrullination (GO:0018101)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|protein-arginine deiminase activity (GO:0004668)			breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|liver(2)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;1.17e-05)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	L-Citrulline(DB00155)	GTCCTGCGGACGCAGGGCCCT	0.577																																						ENST00000375460.3																			0				breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|liver(2)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(559-561)aCg>aTg		peptidyl arginine deiminase, type III	L-Citrulline(DB00155)	C	MET/THR	1,4405	2.1+/-5.4	0,1,2202	121	97	105		560	4.5	1	1	dbSNP_134	105	0,8600		0,0,4300	yes	missense	PADI3	NM_016233.2	81	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	187/665	17594365	1,13005	2203	4300	6503	SO:0001583	missense	51702				peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity	g.chr1:17594365C>T	AB026831	CCDS179.1	1p36.13	2008-02-05			ENSG00000142619	ENSG00000142619	3.5.3.15	"Peptidyl arginine deiminases"	18337	protein-coding gene	gene with protein product		606755				11069618	Standard	NM_016233		Approved	PDI3	uc001bai.3	Q9ULW8	OTTHUMG00000002373	ENST00000375460.3:c.560C>T	1.37:g.17594365C>T	ENSP00000364609:p.Thr187Met						p.T187M	NM_016233.2	NP_057317.2	Q9ULW8	PADI3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;1.17e-05)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	6	600	+		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)	187					Q58EY7|Q70SX5	Missense_Mutation	SNP	ENST00000375460.3	37	c.560C>T	CCDS179.1	.	.	.	.	.	.	.	.	.	.	C	14.69	2.610427	0.46527	2.27E-4	0.0	ENSG00000142619	ENST00000375460	T	0.20881	2.04	5.42	4.51	0.55191	Protein-arginine deiminase (PAD), central domain (2);	0.095886	0.64402	D	0.000001	T	0.20414	0.0491	M	0.69523	2.12	0.43368	D	0.995455	P	0.39903	0.694	B	0.30572	0.117	T	0.03875	-1.0996	10	0.54805	T	0.06	-32.8818	9.5284	0.39178	0.0:0.838:0.0:0.162	.	187	Q9ULW8	PADI3_HUMAN	M	187	ENSP00000364609:T187M	ENSP00000364609:T187M	T	+	2	0	PADI3	17466952	1.000000	0.71417	0.998000	0.56505	0.626000	0.37791	4.641000	0.61375	1.300000	0.44818	-0.224000	0.12420	ACG		0.577	PADI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006805.1			34	81	0	0	0	0.750413	0	34	81					T	17594365	C	T	17594365	3	4	78	1	0	0	0	0	1	0	0	0	11379	536	19	1	582	1	PADI3	1	17594365	Missense_Mutation	SNP	C	TCGA-EJ-7115-01A-11D-2114-08	14265723	17594365	231656256	2	4062											
GPBP1L1	60313	broad.mit.edu	37	chr1	46105995	46105995	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggtgaggtgaatgcagcagAgaaggcagcagcaggatcct	12	6	16	7	0	0	3	0	2	0	1	1	5	1	4	1	4	4	5	1	4	2	0			TCGA-EJ-7115-01A-11D-2114-08	TCGA-EJ-7115-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67324969-d5d7-4ae7-b8f7-26b11d6c0439	6ee4d1f0-da1d-4650-9d06-7f1bc0b11407	g.chr1:46105995A>T	ENST00000290795.3	-	7	1852	c.631T>A	c.(631-633)Tct>Act	p.S211T	GPBP1L1_ENST00000355105.3_Missense_Mutation_p.S211T			Q9HC44	GPBL1_HUMAN	GC-rich promoter binding protein 1-like 1	211					positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)		GPBP1L1/MAST2_ENST00000361297(2)	breast(1)|endometrium(2)|large_intestine(4)|lung(10)|ovary(1)|skin(2)|stomach(1)	21	Acute lymphoblastic leukemia(166;0.155)					AATGCAGCAGAGAAGGCAGCA	0.473																																						ENST00000355105.3																		GPBP1L1/MAST2_ENST00000361297(2)	0				breast(1)|endometrium(2)|large_intestine(4)|lung(10)|ovary(1)|skin(2)|stomach(1)	21						c.(631-633)Tct>Act		GC-rich promoter binding protein 1-like 1							277	258	264					1																	46105995		2203	4300	6503	SO:0001583	missense	60313				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr1:46105995A>T		CCDS528.1	1p34.1	2008-02-05			ENSG00000159592	ENSG00000159592			28843	protein-coding gene	gene with protein product						12477932	Standard	NM_021639		Approved	SP192	uc001coq.3	Q9HC44	OTTHUMG00000040990	ENST00000290795.3:c.631T>A	1.37:g.46105995A>T	ENSP00000290795:p.Ser211Thr					GPBP1L1_ENST00000290795.3_Missense_Mutation_p.S211T	p.S211T	NM_021639.4	NP_067652.1	Q9HC44	GPBL1_HUMAN			8	1991	-	Acute lymphoblastic leukemia(166;0.155)		211					D3DQ10|Q9H751	Missense_Mutation	SNP	ENST00000290795.3	37	c.631T>A	CCDS528.1	.	.	.	.	.	.	.	.	.	.	A	29.5	5.007845	0.93287	.	.	ENSG00000159592	ENST00000290795;ENST00000355105	T;T	0.26957	1.7;1.7	5.85	5.85	0.93711	.	0.054402	0.85682	D	0.000000	T	0.47210	0.1433	M	0.64997	1.995	0.52501	D	0.999953	D	0.61697	0.99	D	0.72982	0.979	T	0.27157	-1.0082	10	0.22109	T	0.4	-30.7729	16.2421	0.82418	1.0:0.0:0.0:0.0	.	211	Q9HC44	GPBL1_HUMAN	T	211	ENSP00000290795:S211T;ENSP00000347224:S211T	ENSP00000290795:S211T	S	-	1	0	GPBP1L1	45878582	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.861000	0.69553	2.234000	0.73211	0.533000	0.62120	TCT		0.473	GPBP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098375.1	NM_021639		24	238	0	0	0	0.681144	0	24	238					T	46105995	A	T	46105995	3	4	78	1	0	0	0	0	1	0	0	0	6596	304	11	5	817	5	GPBP1L1	1	46105995	Missense_Mutation	SNP	A	TCGA-EJ-7115-01A-11D-2114-08	28511630	46105995	203144626	3	4063											
C1orf146	388649	broad.mit.edu	37	chr1	92709886	92709886	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caaaatagttttttggttttGtctgctgccctccatgggcc	6	16	9	10	0	1	0	0	0	1	0	2	0	2	0	3	2	2	3	3	2	3	6			TCGA-EJ-7115-01A-11D-2114-08	TCGA-EJ-7115-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67324969-d5d7-4ae7-b8f7-26b11d6c0439	6ee4d1f0-da1d-4650-9d06-7f1bc0b11407	g.chr1:92709886G>A	ENST00000370375.3	+	4	421	c.273G>A	c.(271-273)ttG>ttA	p.L91L	C1orf146_ENST00000370373.2_Silent_p.L32L	NM_001012425.1	NP_001012425.1	Q5VVC0	CA146_HUMAN	chromosome 1 open reading frame 146	91										breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(1)	8		all_lung(203;0.00528)|Lung NSC(277;0.0193)		all cancers(265;0.00846)|Epithelial(280;0.0952)		TTTTGGTTTTGTCTGCTGCCC	0.328																																						ENST00000370373.2																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(1)	8						c.(94-96)ttG>ttA		chromosome 1 open reading frame 146							46	46	46					1																	92709886		2203	4298	6501	SO:0001819	synonymous_variant	388649							g.chr1:92709886G>A		CCDS30772.1	1p22.1	2008-02-05			ENSG00000203910	ENSG00000203910			24032	protein-coding gene	gene with protein product						15496913	Standard	NM_001012425		Approved		uc001doq.3	Q5VVC0	OTTHUMG00000010285	ENST00000370375.3:c.273G>A	1.37:g.92709886G>A						C1orf146_ENST00000370375.3_Silent_p.L91L	p.L32L			Q5VVC0	CA146_HUMAN		all cancers(265;0.00846)|Epithelial(280;0.0952)	5	560	+		all_lung(203;0.00528)|Lung NSC(277;0.0193)	91					Q5VVC4	Silent	SNP	ENST00000370375.3	37	c.96G>A	CCDS30772.1																																																																																				0.328	C1orf146-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028364.1	NM_001012425		10	25	0	0	0	0.411799	0	10	25					A	92709886	G	A	92709886	2	1	78	1	0	0	0	0	0	0	0	1	2003	1368	48	3		3	C1orf146	1	92709886	Silent	SNP	G	TCGA-EJ-7115-01A-11D-2114-08	46603891	92709886	156540735	4	4064											
PRMT6	55170	broad.mit.edu	37	chr1	107600027	107600027	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggcttcgccacgcgctgtctCatgggccactcggagatcgt	5	9	13	14	5	1	1	1	0	1	1	5	2	1	1	2	3	0	2	2	3	0	1			TCGA-EJ-7115-01A-11D-2114-08	TCGA-EJ-7115-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67324969-d5d7-4ae7-b8f7-26b11d6c0439	6ee4d1f0-da1d-4650-9d06-7f1bc0b11407	g.chr1:107600027C>T	ENST00000370078.1	+	1	727	c.690C>T	c.(688-690)ctC>ctT	p.L230L	PRMT6_ENST00000361318.5_Silent_p.L171L			Q96LA8	ANM6_HUMAN	protein arginine methyltransferase 6	230	SAM-dependent MTase PRMT-type. {ECO:0000255|PROSITE-ProRule:PRU01015}.				base-excision repair (GO:0006284)|histone H3-R2 methylation (GO:0034970)|histone H4-R3 methylation (GO:0043985)|histone methylation (GO:0016571)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-arginine methylation, to asymmetrical-dimethyl arginine (GO:0019919)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleus (GO:0005634)	histone binding (GO:0042393)|histone methyltransferase activity (GO:0042054)|histone methyltransferase activity (H2A-R3 specific) (GO:0070612)|histone methyltransferase activity (H3-R2 specific) (GO:0070611)|histone methyltransferase activity (H4-R3 specific) (GO:0044020)|protein-arginine omega-N asymmetric methyltransferase activity (GO:0035242)|protein-arginine omega-N monomethyltransferase activity (GO:0035241)			biliary_tract(1)|breast(2)|kidney(1)|large_intestine(4)|lung(5)|urinary_tract(1)	14		all_epithelial(167;0.000429)|all_lung(203;0.00122)|Lung NSC(277;0.00185)		Lung(183;0.0305)|Epithelial(280;0.0765)|Colorectal(144;0.0998)|all cancers(265;0.14)|LUSC - Lung squamous cell carcinoma(189;0.173)|BRCA - Breast invasive adenocarcinoma(282;0.242)		CGCGCTGTCTCATGGGCCACT	0.657																																						ENST00000361318.5																			0				biliary_tract(1)|breast(2)|kidney(1)|large_intestine(4)|lung(5)|urinary_tract(1)	14						c.(511-513)ctC>ctT		protein arginine methyltransferase 6							48	53	52					1																	107600027		2080	4218	6298	SO:0001819	synonymous_variant	55170				base-excision repair|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	histone binding|histone methyltransferase activity (H2A-R3 specific)|histone methyltransferase activity (H3-R2 specific)|histone methyltransferase activity (H4-R3 specific)|protein-arginine omega-N asymmetric methyltransferase activity|protein-arginine omega-N monomethyltransferase activity	g.chr1:107600027C>T	AK001421	CCDS41360.1, CCDS41360.2	1p13.2	2008-02-05	2006-02-16	2006-02-16	ENSG00000198890	ENSG00000198890		"Protein arginine methyltransferases"	18241	protein-coding gene	gene with protein product		608274	"HMT1 hnRNP methyltransferase-like 6 (S. cerevisiae)"	HRMT1L6		11724789	Standard	NM_018137		Approved	FLJ10559	uc010ous.2	Q96LA8	OTTHUMG00000010964	ENST00000370078.1:c.690C>T	1.37:g.107600027C>T						PRMT6_ENST00000370078.1_Silent_p.L230L	p.L171L	NM_018137.2	NP_060607.2	Q96LA8	ANM6_HUMAN		Lung(183;0.0305)|Epithelial(280;0.0765)|Colorectal(144;0.0998)|all cancers(265;0.14)|LUSC - Lung squamous cell carcinoma(189;0.173)|BRCA - Breast invasive adenocarcinoma(282;0.242)	1	761	+		all_epithelial(167;0.000429)|all_lung(203;0.00122)|Lung NSC(277;0.00185)	230					A3KME1|B4DID8|Q5T5Y5|Q6DKI4|Q9NVR8	Silent	SNP	ENST00000370078.1	37	c.513C>T	CCDS41360.2	.	.	.	.	.	.	.	.	.	.	C	11.25	1.582986	0.28268	.	.	ENSG00000198890	ENST00000540389	.	.	.	5.51	0.356	0.16074	.	.	.	.	.	T	0.46092	0.1375	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.49331	-0.8951	5	0.87932	D	0	-14.3429	5.9523	0.19253	0.0:0.5737:0.1274:0.2988	.	.	.	.	Y	124	.	ENSP00000440829:H124Y	H	+	1	0	PRMT6	107401550	1.000000	0.71417	0.991000	0.47740	0.962000	0.63368	0.725000	0.25970	-0.183000	0.10585	-0.417000	0.06048	CAT		0.657	PRMT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030185.1	NM_018137		35	77	0	0	0	0.796494	0	35	77					T	107600027	C	T	107600027	2	4	78	1	0	0	0	0	0	0	0	1	12540	813	29	3		3	PRMT6	1	107600027	Silent	SNP	C	TCGA-EJ-7115-01A-11D-2114-08	14890141	107600027	141650594	5	4065											
HFE2	148738	broad.mit.edu	37	chr1	145415767	145415767	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gagcttggcctctactggatAatgacttcctctttgtccaa	8	14	8	11	0	2	1	0	1	2	0	4	3	4	2	3	2	2	1	3	2	3	5			TCGA-EJ-7115-01A-11D-2114-08	TCGA-EJ-7115-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67324969-d5d7-4ae7-b8f7-26b11d6c0439	6ee4d1f0-da1d-4650-9d06-7f1bc0b11407	g.chr1:145415767A>C	ENST00000336751.5	+	3	824	c.586A>C	c.(586-588)Aat>Cat	p.N196H	HFE2_ENST00000497365.1_Intron|HFE2_ENST00000357836.5_Missense_Mutation_p.N83H|HFE2_ENST00000475797.1_Intron	NM_213653.3	NP_998818.1	Q6ZVN8	RGMC_HUMAN	hemochromatosis type 2 (juvenile)	196					axon guidance (GO:0007411)|BMP signaling pathway (GO:0030509)|iron ion homeostasis (GO:0055072)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	coreceptor activity (GO:0015026)			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)	14	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					TCTACTGGATAATGACTTCCT	0.587																																						ENST00000336751.5																			0				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)	14						c.(586-588)Aat>Cat		hemochromatosis type 2 (juvenile)							100	103	102					1																	145415767		2203	4300	6503	SO:0001583	missense	148738				axon guidance	anchored to membrane		g.chr1:145415767A>C	AY372521	CCDS72877.1, CCDS72878.1, CCDS72879.1	1q21.2	2014-06-26			ENSG00000168509	ENSG00000168509			4887	protein-coding gene	gene with protein product	"repulsive guidance molecule c"	608374				10205270, 14647275	Standard	NM_213653		Approved	JH, HFE2A, RGMC, HJV, hemojuvelin, haemojuvelin	uc001eni.2	Q6ZVN8	OTTHUMG00000013748	ENST00000336751.5:c.586A>C	1.37:g.145415767A>C	ENSP00000337014:p.Asn196His					HFE2_ENST00000475797.1_Intron|HFE2_ENST00000357836.5_Missense_Mutation_p.N83H|HFE2_ENST00000497365.1_Intron	p.N196H	NM_213653.3	NP_998818.1	Q6ZVN8	RGMC_HUMAN			3	824	+	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		196					B1ALI7|Q2PQ63|Q6IMF6|Q8NAH2|Q8WVJ5	Missense_Mutation	SNP	ENST00000336751.5	37	c.586A>C	CCDS910.1	.	.	.	.	.	.	.	.	.	.	A	23.5	4.419105	0.83559	.	.	ENSG00000168509	ENST00000357836;ENST00000336751	D;D	0.98958	-5.27;-5.27	4.32	4.32	0.51571	Repulsive guidance molecule, N-terminal (1);	0.057170	0.64402	D	0.000003	D	0.98817	0.9601	M	0.80332	2.49	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.99838	1.1059	10	0.87932	D	0	-20.9345	11.5018	0.50441	1.0:0.0:0.0:0.0	.	196	Q6ZVN8	RGMC_HUMAN	H	83;196	ENSP00000350495:N83H;ENSP00000337014:N196H	ENSP00000337014:N196H	N	+	1	0	HFE2	144127124	1.000000	0.71417	0.999000	0.59377	0.991000	0.79684	8.953000	0.93041	1.816000	0.52996	0.456000	0.33151	AAT		0.587	HFE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038527.1	NM_145277		45	125	0	0	0	0.853193	0	45	125					C	145415767	A	C	145415767	3	2	78	1	0	0	0	0	1	0	0	0	7082	362	13	5	592	5	HFE2	1	145415767	Missense_Mutation	SNP	A	TCGA-EJ-7115-01A-11D-2114-08	37815740	145415767	103834854	6	4066											
ETV3	2117	broad.mit.edu	37	chr1	157105282	157105282	+	Nonsense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgagggcccggctcagctTgtcataattcatctgtggtt	6	13	11	11	1	4	1	3	1	1	0	4	1	4	1	2	3	1	3	2	3	1	4			TCGA-EJ-7115-01A-11D-2114-08	TCGA-EJ-7115-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67324969-d5d7-4ae7-b8f7-26b11d6c0439	6ee4d1f0-da1d-4650-9d06-7f1bc0b11407	g.chr1:157105282T>A	ENST00000368192.4	-	3	329	c.265A>T	c.(265-267)Aag>Tag	p.K89*	ETV3_ENST00000326786.4_Nonsense_Mutation_p.K89*|ETV3_ENST00000460850.1_5'UTR	NM_001145312.1	NP_001138784.1	P41162	ETV3_HUMAN	ets variant 3	89					cell differentiation (GO:0030154)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|prostate(2)	9	Hepatocellular(266;0.158)	Prostate(1639;0.174)				CGGCTCAGCTTGTCATAATTC	0.498																																						ENST00000368192.4																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|prostate(2)	9						c.(265-267)Aag>Tag		ets variant 3							61	62	61					1																	157105282		2203	4300	6503	SO:0001587	stop_gained	2117						sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr1:157105282T>A	BC022868	CCDS1164.1, CCDS44250.1	1q21-q23	2008-09-12	2008-09-12		ENSG00000117036	ENSG00000117036			3492	protein-coding gene	gene with protein product		164873	"ets variant gene 3, ETS family transcriptional repressor", "ets variant gene 3"			8020980	Standard	NM_005240		Approved	PE-1	uc001fqr.2	P41162	OTTHUMG00000034298	ENST00000368192.4:c.265A>T	1.37:g.157105282T>A	ENSP00000357175:p.Lys89*					ETV3_ENST00000326786.4_Nonsense_Mutation_p.K89*|ETV3_ENST00000460850.1_5'UTR	p.K89*	NM_001145312.1	NP_001138784.1	P41162	ETV3_HUMAN			3	329	-	Hepatocellular(266;0.158)	Prostate(1639;0.174)	89					B4E3M7|Q8TAC8|Q9BX30	Nonsense_Mutation	SNP	ENST00000368192.4	37	c.265A>T	CCDS44250.1	.	.	.	.	.	.	.	.	.	.	T	36	5.744922	0.96882	.	.	ENSG00000117036	ENST00000368192;ENST00000326786	.	.	.	5.47	5.47	0.80525	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.5288	0.67909	0.0:0.0:0.0:1.0	.	.	.	.	X	89	.	ENSP00000327316:K89X	K	-	1	0	ETV3	155371906	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.988000	0.88194	2.075000	0.62263	0.533000	0.62120	AAG		0.498	ETV3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000082843.2	NM_005240		22	39	0	0	0	0.639603	0	22	39					A	157105282	T	A	157105282	4	1	78	1	0	0	0	0	0	1	0	0	5279	1821	63	5	1317	5	ETV3	1	157105282	Nonsense_Mutation	SNP	T	TCGA-EJ-7115-01A-11D-2114-08	11689515	157105282	92145339	7	4067											
ADORA1	134	broad.mit.edu	37	chr1	203134969	203134969	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agatttggaatgaccatttcCgctgccagcctgcacctccc	8	10	8	15	1	0	2	0	1	0	1	2	3	2	3	6	1	3	2	6	1	1	2	rs201646414		TCGA-EJ-7115-01A-11D-2114-08	TCGA-EJ-7115-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67324969-d5d7-4ae7-b8f7-26b11d6c0439	6ee4d1f0-da1d-4650-9d06-7f1bc0b11407	g.chr1:203134969C>T	ENST00000367236.4	+	3	1843	c.922C>T	c.(922-924)Cgc>Tgc	p.R308C	ADORA1_ENST00000337894.4_Missense_Mutation_p.R308C|ADORA1_ENST00000472535.1_3'UTR|ADORA1_ENST00000309502.3_Missense_Mutation_p.R308C|ADORA1_ENST00000367235.1_3'UTR	NM_001048230.1	NP_001041695.1	P30542	AA1R_HUMAN	adenosine A1 receptor	308					activation of MAPKK activity (GO:0000186)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|apoptotic signaling pathway (GO:0097190)|cell-cell signaling (GO:0007267)|cognition (GO:0050890)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|inflammatory response (GO:0006954)|lipid catabolic process (GO:0016042)|negative regulation of acute inflammatory response (GO:0002674)|negative regulation of apoptotic process (GO:0043066)|negative regulation of blood pressure (GO:0045776)|negative regulation of cardiac muscle contraction (GO:0055118)|negative regulation of cell proliferation (GO:0008285)|negative regulation of circadian sleep/wake cycle, non-REM sleep (GO:0042323)|negative regulation of glutamate secretion (GO:0014050)|negative regulation of heart contraction (GO:0045822)|negative regulation of hormone secretion (GO:0046888)|negative regulation of leukocyte migration (GO:0002686)|negative regulation of lipid catabolic process (GO:0050995)|negative regulation of mucus secretion (GO:0070256)|negative regulation of neurotrophin production (GO:0032900)|negative regulation of renal sodium excretion (GO:0035814)|negative regulation of synaptic transmission, GABAergic (GO:0032229)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|negative regulation of vasodilation (GO:0045908)|nervous system development (GO:0007399)|phagocytosis (GO:0006909)|positive regulation of blood pressure (GO:0045777)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of nucleoside transport (GO:0032244)|positive regulation of peptide secretion (GO:0002793)|positive regulation of potassium ion transport (GO:0043268)|positive regulation of protein dephosphorylation (GO:0035307)|protein targeting to membrane (GO:0006612)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of glomerular filtration (GO:0003093)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic plasticity (GO:0048167)|relaxation of vascular smooth muscle (GO:0060087)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|temperature homeostasis (GO:0001659)	asymmetric synapse (GO:0032279)|axolemma (GO:0030673)|basolateral plasma membrane (GO:0016323)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	G-protein coupled adenosine receptor activity (GO:0001609)|phospholipase C activity (GO:0004629)|purine nucleoside binding (GO:0001883)			central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(9)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	25					Adenosine(DB00640)|Aminophylline(DB01223)|Caffeine(DB00201)|Defibrotide(DB04932)|Dyphylline(DB00651)|Enprofylline(DB00824)|Gabapentin(DB00996)|Oxtriphylline(DB01303)|Pentoxifylline(DB00806)|Theobromine(DB01412)|Theophylline(DB00277)	TGACCATTTCCGCTGCCAGCC	0.582													C|||	1	0.000199681	0	0.0014	5008	,	,		21675	0		0	False		,,,				2504	0					ENST00000367236.4																			0				central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(9)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	25						c.(922-924)Cgc>Tgc		adenosine A1 receptor	Aminophylline(DB01223)|Caffeine(DB00201)|Defibrotide(DB04932)|Gabapentin(DB00996)|Imipramine(DB00458)|Pegademase bovine(DB00061)|Theophylline(DB00277)						136	104	115					1																	203134969		2203	4300	6503	SO:0001583	missense	134				induction of apoptosis by extracellular signals|inflammatory response|nervous system development|phagocytosis	integral to plasma membrane		g.chr1:203134969C>T	BC026340	CCDS1434.1	1q32.1	2012-08-08			ENSG00000163485	ENSG00000163485		"GPCR / Class A : Adenosine receptors"	262	protein-coding gene	gene with protein product		102775				1662665, 2541503	Standard	NM_001048230		Approved	RDC7	uc001gzf.1	P30542	OTTHUMG00000042125	ENST00000367236.4:c.922C>T	1.37:g.203134969C>T	ENSP00000356205:p.Arg308Cys					ADORA1_ENST00000367235.1_3'UTR|ADORA1_ENST00000309502.3_Missense_Mutation_p.R308C|ADORA1_ENST00000337894.4_Missense_Mutation_p.R308C|ADORA1_ENST00000472535.1_3'UTR	p.R308C	NM_001048230.1	NP_001041695.1	P30542	AA1R_HUMAN			3	1843	+			308					A6NFY5|A6NGP4|A8K1L3|B3KXQ4|D2CGD0|Q6FHK3|Q8TAM8	Missense_Mutation	SNP	ENST00000367236.4	37	c.922C>T	CCDS1434.1	.	.	.	.	.	.	.	.	.	.	C	12.28	1.891127	0.33348	.	.	ENSG00000163485	ENST00000309502;ENST00000367236;ENST00000337894	T;T;T	0.37411	1.2;1.2;1.2	5.37	5.37	0.77165	.	0.103731	0.64402	D	0.000003	T	0.17789	0.0427	N	0.10874	0.06	0.40892	D	0.984081	B;B;B	0.20671	0.008;0.047;0.001	B;B;B	0.08055	0.001;0.003;0.001	T	0.10941	-1.0608	10	0.31617	T	0.26	-37.0266	7.0043	0.24828	0.0:0.789:0.0:0.211	.	341;240;308	B7Z379;B7Z1L9;P30542	.;.;AA1R_HUMAN	C	308	ENSP00000308549:R308C;ENSP00000356205:R308C;ENSP00000338435:R308C	ENSP00000308549:R308C	R	+	1	0	ADORA1	201401592	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	3.303000	0.51858	2.505000	0.84491	0.655000	0.94253	CGC		0.582	ADORA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000100273.1	NM_000674		13	77	0	0	0	0.479597	0	13	77					T	203134969	C	T	203134969	3	4	78	1	0	0	0	0	1	0	0	0	326	652	23	2	928	2	ADORA1	1	203134969	Missense_Mutation	SNP	C	TCGA-EJ-7115-01A-11D-2114-08	46029687	203134969	46115652	8	4068											
TACR1	6869	broad.mit.edu	37	chr2	75347894	75347894	+	Splice_Site	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ggatgtatgatggccatgtaCctggaacagagaagaaagaa	16	7	13	5	0	0	4	0	1	0	3	0	7	0	6	2	3	2	2	2	3	6	2			TCGA-EJ-7115-01A-11D-2114-08	TCGA-EJ-7115-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67324969-d5d7-4ae7-b8f7-26b11d6c0439	6ee4d1f0-da1d-4650-9d06-7f1bc0b11407	g.chr2:75347894C>G	ENST00000305249.5	-	2	1155	c.390G>C	c.(388-390)agG>agC	p.R130S	TACR1_ENST00000497764.1_5'Flank|TACR1_ENST00000409848.3_Splice_Site_p.R130S	NM_001058.3	NP_001049.1	P25103	NK1R_HUMAN	tachykinin receptor 1	130					acute inflammatory response (GO:0002526)|aggressive behavior (GO:0002118)|angiotensin-mediated drinking behavior (GO:0003051)|associative learning (GO:0008306)|behavioral response to pain (GO:0048266)|detection of abiotic stimulus (GO:0009582)|eating behavior (GO:0042755)|inflammatory response (GO:0006954)|long-term memory (GO:0007616)|operant conditioning (GO:0035106)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of action potential (GO:0045760)|positive regulation of blood pressure (GO:0045777)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of hormone secretion (GO:0046887)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of lymphocyte proliferation (GO:0050671)|positive regulation of ossification (GO:0045778)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of saliva secretion (GO:0046878)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of synaptic transmission, cholinergic (GO:0032224)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|positive regulation of uterine smooth muscle contraction (GO:0070474)|positive regulation of vascular permeability (GO:0043117)|positive regulation of vasoconstriction (GO:0045907)|regulation of smooth muscle cell migration (GO:0014910)|regulation of smooth muscle cell proliferation (GO:0048660)|response to auditory stimulus (GO:0010996)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to heat (GO:0009408)|response to morphine (GO:0043278)|response to nicotine (GO:0035094)|response to ozone (GO:0010193)|response to progesterone (GO:0032570)|smooth muscle contraction involved in micturition (GO:0060083)|sperm ejaculation (GO:0042713)|tachykinin receptor signaling pathway (GO:0007217)	cell body (GO:0044297)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	substance P receptor activity (GO:0016496)|tachykinin receptor activity (GO:0004995)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(8)|ovary(1)|skin(1)	24					Aprepitant(DB00673)|Ketamine(DB01221)|Vapreotide(DB04894)	TGGCCATGTACCTGGAACAGA	0.483																																					Pancreas(64;62 1268 3653 14826 43765)	ENST00000305249.4																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(8)|ovary(1)|skin(1)	24						c.e2-1		tachykinin receptor 1	Aprepitant(DB00673)|Ketamine(DB01221)|Vapreotide(DB04894)						52	54	54					2																	75347894		2203	4300	6503	SO:0001630	splice_region_variant	6869				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|detection of abiotic stimulus|mechanosensory behavior	integral to plasma membrane	protein binding	g.chr2:75347894C>G	M76675	CCDS1958.1, CCDS46345.1	2p13.1-p12	2012-08-08			ENSG00000115353	ENSG00000115353		"GPCR / Class A : Tachykinin receptors"	11526	protein-coding gene	gene with protein product		162323		TAC1R		1657150	Standard	NM_001058		Approved	SPR, NK1R, NKIR	uc002sng.2	P25103	OTTHUMG00000129973	ENST00000305249.5:c.390-1G>C	2.37:g.75347894C>G						TACR1_ENST00000409848.3_Splice_Site_p.R130_splice	p.R130_splice	NM_001058.3	NP_001049.1	P25103	NK1R_HUMAN			2	1155	-			130					A8K150	Splice_Site	SNP	ENST00000305249.5	37	c.389_splice	CCDS1958.1	.	.	.	.	.	.	.	.	.	.	C	19.72	3.880585	0.72294	.	.	ENSG00000115353	ENST00000305249;ENST00000409848	D;D	0.97161	-4.27;-4.27	5.52	1.7	0.24286	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	D	0.98845	0.9610	H	0.98314	4.2	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97633	1.0143	10	0.87932	D	0	.	8.617	0.33838	0.0:0.6767:0.0:0.3233	.	130	P25103	NK1R_HUMAN	S	130	ENSP00000303522:R130S;ENSP00000386448:R130S	ENSP00000303522:R130S	R	-	3	2	TACR1	75201402	1.000000	0.71417	0.999000	0.59377	0.974000	0.67602	3.492000	0.53259	0.099000	0.17552	0.655000	0.94253	AGG		0.483	TACR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252239.3	NM_001058	Missense_Mutation	22	38	0	0	0	0.608945	0	22	38					G	75347894	C	G	75347894	5	3	78	1	0	0	0	0	0	0	1	0	15502	521	18	5	853	5	TACR1	2	75347894	Splice_Site	SNP	C	TCGA-EJ-7115-01A-11D-2114-08		75347894	167851479	9	4069											
GGCX	2677	broad.mit.edu	37	chr2	85777103	85777106	+	Frame_Shift_Del	DEL	GAAT	GAAT	-																															gatttgactcaggaggattaGaatgtgaagaatccgtgttt																										TCGA-EJ-7115-01A-11D-2114-08	TCGA-EJ-7115-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67324969-d5d7-4ae7-b8f7-26b11d6c0439	6ee4d1f0-da1d-4650-9d06-7f1bc0b11407	g.chr2:85777103_85777106delGAAT	ENST00000233838.4	-	15	2308_2311	c.2228_2231delATTC	c.(2227-2232)cattctfs	p.HS743fs	GGCX_ENST00000473665.1_5'Flank|GGCX_ENST00000430215.3_Frame_Shift_Del_p.HS686fs	NM_000821.5	NP_000812.2	P38435	VKGC_HUMAN	gamma-glutamyl carboxylase	743					blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|cellular protein modification process (GO:0006464)|peptidyl-glutamic acid carboxylation (GO:0017187)|post-translational protein modification (GO:0043687)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	gamma-glutamyl carboxylase activity (GO:0008488)			endometrium(3)|large_intestine(5)|lung(3)|ovary(1)|stomach(1)|urinary_tract(2)	15					Anisindione(DB01125)|Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Drotrecogin alfa(DB00055)|Menadione(DB00170)|Phylloquinone(DB01022)	AGGAGGATTAGAATGTGAAGAATC	0.515																																						ENST00000233838.3																			0				endometrium(3)|large_intestine(5)|lung(3)|ovary(1)|stomach(1)|urinary_tract(2)	15						c.(2227-2232)ctfs		gamma-glutamyl carboxylase	Anisindione(DB01125)|Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Drotrecogin alfa(DB00055)|L-Glutamic Acid(DB00142)|Menadione(DB00170)|Phytonadione(DB01022)																																			SO:0001589	frameshift_variant	2677				blood coagulation|peptidyl-glutamic acid carboxylation|post-translational protein modification	endoplasmic reticulum membrane|integral to membrane|membrane fraction	gamma-glutamyl carboxylase activity	g.chr2:85777103_85777106delGAAT		CCDS1978.1, CCDS46353.1	2p12	2008-05-21			ENSG00000115486	ENSG00000115486			4247	protein-coding gene	gene with protein product	"vitamin K-dependent gamma-carboxylase"	137167				1749935	Standard	NM_000821		Approved	VKCFD1	uc002sps.3	P38435	OTTHUMG00000130173	ENST00000233838.4:c.2228_2231delATTC	2.37:g.85777103_85777106delGAAT	ENSP00000233838:p.His743fs					GGCX_ENST00000430215.3_Frame_Shift_Del_p.HS686fs	p.HS743fs	NM_000821.5	NP_000812.2	P38435	VKGC_HUMAN			15	2308_2311	-			743					B4DMC5|E9PEE1|Q14415|Q6GU45	Frame_Shift_Del	DEL	ENST00000233838.4	37	c.2228_2231delATTC	CCDS1978.1																																																																																				0.515	GGCX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252490.3	NM_000821		25	61						25	61	---	---	---	---	-	85777106	GAAT	-	85777103	7	5	78	1	0	1	0	1	0	0	0	0	6356	942	33	0	49	0	GGCX	2	85777103	Frame_Shift_Del	DEL	GAAT	TCGA-EJ-7115-01A-11D-2114-08	10429209	85777103	157422270	10	4070											
CYTIP	9595	broad.mit.edu	37	chr2	158272362	158272362	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gctggtgttactgatgctccGgttcctccttgaagatgacc	6	13	11	11	1	0	4	0	3	0	1	3	4	3	4	4	2	2	4	4	2	2	3			TCGA-EJ-7115-01A-11D-2114-08	TCGA-EJ-7115-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67324969-d5d7-4ae7-b8f7-26b11d6c0439	6ee4d1f0-da1d-4650-9d06-7f1bc0b11407	g.chr2:158272362G>A	ENST00000264192.3	-	8	1028	c.907C>T	c.(907-909)Cgg>Tgg	p.R303W	CYTIP_ENST00000540637.1_Missense_Mutation_p.R197W	NM_004288.4	NP_004279.3	O60759	CYTIP_HUMAN	cytohesin 1 interacting protein	303	Ser-rich.				regulation of cell adhesion (GO:0030155)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|endosome (GO:0005768)|nucleus (GO:0005634)				breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	15						CTGATGCTCCGGTTCCTCCTT	0.547																																						ENST00000264192.3																			0				breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	15						c.(907-909)Cgg>Tgg		cytohesin 1 interacting protein							118	109	112					2																	158272362		2203	4300	6503	SO:0001583	missense	9595				regulation of cell adhesion	cell cortex|early endosome	protein binding	g.chr2:158272362G>A	L06633	CCDS2204.1	2q11.2	2011-09-08	2008-08-14	2008-08-19	ENSG00000115165	ENSG00000115165			9506	protein-coding gene	gene with protein product	"cytohesin binding protein HE", "cytohesin binder and regulator"	604448	"pleckstrin homology, Sec7 and coiled-coil domains, binding protein"	PSCDBP		18926288, 10343115, 11867758, 20530790, 21562043	Standard	NM_004288		Approved	B3-1, HE, CYBR, CASP, CYTHIP	uc002tzj.1	O60759	OTTHUMG00000154551	ENST00000264192.3:c.907C>T	2.37:g.158272362G>A	ENSP00000264192:p.Arg303Trp					CYTIP_ENST00000540637.1_Missense_Mutation_p.R197W	p.R303W	NM_004288.4	NP_004279.3	O60759	CYTIP_HUMAN			8	1028	-			303			Ser-rich.		B4DWH9|Q15630|Q8NE32	Missense_Mutation	SNP	ENST00000264192.3	37	c.907C>T	CCDS2204.1	.	.	.	.	.	.	.	.	.	.	G	13.46	2.245004	0.39697	.	.	ENSG00000115165	ENST00000264192;ENST00000540637	T;T	0.51574	1.98;0.7	5.76	4.77	0.60923	.	0.143213	0.53938	D	0.000046	T	0.66147	0.2760	M	0.74881	2.28	0.30627	N	0.757886	D	0.89917	1.0	D	0.67548	0.952	T	0.68021	-0.5519	10	0.87932	D	0	-11.1893	13.7649	0.62988	0.0:0.0:0.7416:0.2584	.	303	O60759	CYTIP_HUMAN	W	303;197	ENSP00000264192:R303W;ENSP00000440801:R197W	ENSP00000264192:R303W	R	-	1	2	CYTIP	157980608	1.000000	0.71417	0.476000	0.27291	0.105000	0.19272	4.629000	0.61290	2.882000	0.98803	0.655000	0.94253	CGG		0.547	CYTIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254926.1	NM_004288		28	67	0	0	0	0.717897	0	28	67					A	158272362	G	A	158272362	3	1	78	1	0	0	0	0	1	0	0	0	4207	1115	39	2	176	2	CYTIP	2	158272362	Missense_Mutation	SNP	G	TCGA-EJ-7115-01A-11D-2114-08	72495259	158272362	84927011	11	4071											
C2orf67	151050	broad.mit.edu	37	chr2	210993896	210993896	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttccattcagtactacagttActgtgaacaaaacaaacact	16	11	4	10	0	1	1	1	1	0	0	2	1	2	1	1	0	6	2	1	0	7	5			TCGA-EJ-7115-01A-11D-2114-08	TCGA-EJ-7115-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67324969-d5d7-4ae7-b8f7-26b11d6c0439	6ee4d1f0-da1d-4650-9d06-7f1bc0b11407	g.chr2:210993896A>G	ENST00000281772.9	-	3	1352	c.1089T>C	c.(1087-1089)gtT>gtC	p.V363V	KANSL1L_ENST00000418791.1_Splice_Site_p.V363V|KANSL1L_ENST00000452086.1_Splice_Site_p.V363V|KANSL1L_ENST00000457374.1_Splice_Site_p.V363V	NM_152519.2	NP_689732.2	A0AUZ9	KAL1L_HUMAN	KAT8 regulatory NSL complex subunit 1-like	363						histone acetyltransferase complex (GO:0000123)											TACTACAGTTACTGTGAACAA	0.403																																						ENST00000281772.9																			0											c.e3-1		KAT8 regulatory NSL complex subunit 1-like							129	119	123					2																	210993896		2203	4300	6503	SO:0001630	splice_region_variant	151050							g.chr2:210993896A>G	AK074441	CCDS33370.1	2q34	2012-02-20	2012-02-20	2012-02-20	ENSG00000144445	ENSG00000144445			26310	protein-coding gene	gene with protein product	"KIAA1267-like"	613833	"chromosome 2 open reading frame 67"	C2orf67		12477932	Standard	NM_152519		Approved	FLJ23861, FLJ32349, MSL1v2, KIAA1267L	uc002vds.3	A0AUZ9	OTTHUMG00000154697	ENST00000281772.9:c.1089-1T>C	2.37:g.210993896A>G						KANSL1L_ENST00000418791.1_Splice_Site_p.V363_splice|KANSL1L_ENST00000452086.1_Splice_Site_p.V363_splice|KANSL1L_ENST00000457374.1_Splice_Site_p.V363_splice	p.V363_splice	NM_152519.2	NP_689732.2	A0AUZ9	CB067_HUMAN			3	1352	-			363					B7ZLN1|I6L9A8|Q53TV8|Q53TW3|Q6IS05|Q8TCI1|Q96MI0|Q9UFC3	Splice_Site	SNP	ENST00000281772.9	37	c.1088_splice	CCDS33370.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	12.32|12.32	1.901263|1.901263	0.33535|0.33535	.|.	.|.	ENSG00000144445|ENSG00000144445	ENST00000438563;ENST00000415553|ENST00000428655	.|.	.|.	.|.	5.52|5.52	3.03|3.03	0.35002|0.35002	.|.	.|.	.|.	.|.	.|.	T|.	0.47655|.	0.1457|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.36359|.	-0.9751|.	4|.	.|.	.|.	.|.	.|.	4.537|4.537	0.12038|0.12038	0.6438:0.1685:0.1877:0.0|0.6438:0.1685:0.1877:0.0	.|.	.|.	.|.	.|.	S|Q	37;82|58	.|.	.|.	L|X	-|-	2|1	0|0	C2orf67|C2orf67	210702141|210702141	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.929000|0.929000	0.56500|0.56500	1.909000|1.909000	0.39917|0.39917	0.935000|0.935000	0.37341|0.37341	0.482000|0.482000	0.46254|0.46254	TTA|TAA		0.403	KANSL1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336633.3	NM_152519	Silent	30	85	0	0	0	0.750413	0	30	85					G	210993896	A	G	210993896	5	3	78	1	0	0	0	0	0	0	1	0	2186	405	14	4	1926	4	C2orf67	2	210993896	Splice_Site	SNP	A	TCGA-EJ-7115-01A-11D-2114-08	52721534	210993896	32205477	12	4072											
CCDC108	255101	broad.mit.edu	37	chr2	219900337	219900337	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agatgaccctcttgttcactCtctcctgcttctttggggag	5	15	9	12	0	4	2	1	1	3	1	6	3	5	3	2	2	1	2	2	2	0	4			TCGA-EJ-7115-01A-11D-2114-08	TCGA-EJ-7115-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67324969-d5d7-4ae7-b8f7-26b11d6c0439	6ee4d1f0-da1d-4650-9d06-7f1bc0b11407	g.chr2:219900337C>G	ENST00000341552.5	-	5	490	c.407G>C	c.(406-408)aGa>aCa	p.R136T	CCDC108_ENST00000441968.1_Missense_Mutation_p.R136T|CCDC108_ENST00000409865.3_Missense_Mutation_p.R125T|CCDC108_ENST00000410037.1_Missense_Mutation_p.R71T|CCDC108_ENST00000295729.2_Missense_Mutation_p.R71T|CCDC108_ENST00000453220.1_Missense_Mutation_p.R136T|CCDC108_ENST00000324264.6_Missense_Mutation_p.R71T	NM_194302.2	NP_919278.2	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108	136						integral component of membrane (GO:0016021)	poly(A) RNA binding (GO:0044822)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CTTGTTCACTCTCTCCTGCTT	0.547																																						ENST00000341552.5																			0				autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80						c.(406-408)aGa>aCa		coiled-coil domain containing 108							138	121	127					2																	219900337		2203	4300	6503	SO:0001583	missense	255101					integral to membrane	structural molecule activity	g.chr2:219900337C>G	NM_194302, AL833882, AK127189	CCDS2430.2, CCDS2431.2, CCDS63125.1, CCDS63126.1	2q35	2008-02-05			ENSG00000181378	ENSG00000181378			25325	protein-coding gene	gene with protein product		614270				12477932	Standard	NM_194302		Approved	DKFZp434O0527, MGC35338	uc002vjl.2	Q6ZU64	OTTHUMG00000133013	ENST00000341552.5:c.407G>C	2.37:g.219900337C>G	ENSP00000340776:p.Arg136Thr					CCDC108_ENST00000453220.1_Missense_Mutation_p.R136T|CCDC108_ENST00000441968.1_Missense_Mutation_p.R136T|CCDC108_ENST00000410037.1_Missense_Mutation_p.R71T|CCDC108_ENST00000409865.3_Missense_Mutation_p.R125T|CCDC108_ENST00000324264.6_Missense_Mutation_p.R71T|CCDC108_ENST00000295729.2_Missense_Mutation_p.R71T	p.R136T	NM_194302.2	NP_919278.2	Q6ZU64	CC108_HUMAN		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	5	490	-		Renal(207;0.0915)	136					A2BDD8|E9PCR1|E9PG25|E9PG72|Q6ZSR8|Q8N0T4|Q8NDJ3	Missense_Mutation	SNP	ENST00000341552.5	37	c.407G>C	CCDS2430.2	.	.	.	.	.	.	.	.	.	.	C	14.68	2.606594	0.46527	.	.	ENSG00000181378	ENST00000341552;ENST00000441968;ENST00000453220;ENST00000409865;ENST00000410037;ENST00000441164;ENST00000457968;ENST00000436631;ENST00000295729;ENST00000324264;ENST00000458526	T;T;T;T;T;T;T;T;T;T	0.32515	1.45;1.45;1.45;1.45;1.45;1.45;1.45;1.45;1.45;1.45	5.39	-4.38	0.03622	.	0.954027	0.08649	N	0.914332	T	0.11367	0.0277	N	0.08118	0	0.09310	N	1	B;B;P	0.37276	0.091;0.091;0.589	B;B;B	0.32677	0.018;0.018;0.15	T	0.17961	-1.0352	10	0.62326	D	0.03	-0.0804	3.6771	0.08297	0.1037:0.2868:0.1037:0.5057	.	125;71;136	E9PG25;E9PCR1;Q6ZU64	.;.;CC108_HUMAN	T	136;136;136;125;71;70;125;71;71;71;71	ENSP00000340776:R136T;ENSP00000413377:R136T;ENSP00000409117:R136T;ENSP00000386945:R125T;ENSP00000386258:R71T;ENSP00000393483:R125T;ENSP00000396836:R71T;ENSP00000295729:R71T;ENSP00000313807:R71T;ENSP00000413746:R71T	ENSP00000295729:R71T	R	-	2	0	CCDC108	219608581	0.024000	0.19004	0.015000	0.15790	0.225000	0.24961	-0.415000	0.07106	-0.680000	0.05211	-1.083000	0.02208	AGA		0.547	CCDC108-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256598.4	NM_194302		42	106	0	0	0	0.834066	0	42	106					G	219900337	C	G	219900337	3	3	78	1	0	0	0	0	1	0	0	0	2743	913	32	5	5642	5	CCDC108	2	219900337	Missense_Mutation	SNP	C	TCGA-EJ-7115-01A-11D-2114-08	8906441	219900337	23299036	13	4073											
SLC4A7	9497	broad.mit.edu	37	chr3	27459989	27459989	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attcttacctgagaagggacActttttggtggttctatgcg	8	15	11	7	1	2	1	0	1	2	1	2	3	2	2	1	3	2	1	1	3	3	6	rs528917300		TCGA-EJ-7115-01A-11D-2114-08	TCGA-EJ-7115-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67324969-d5d7-4ae7-b8f7-26b11d6c0439	6ee4d1f0-da1d-4650-9d06-7f1bc0b11407	g.chr3:27459989A>C	ENST00000295736.5	-	11	1690	c.1620T>G	c.(1618-1620)agT>agG	p.S540R	SLC4A7_ENST00000446700.1_Missense_Mutation_p.S532R|SLC4A7_ENST00000445684.1_Missense_Mutation_p.S536R|SLC4A7_ENST00000454389.1_Missense_Mutation_p.S549R|SLC4A7_ENST00000437179.1_Missense_Mutation_p.S421R|SLC4A7_ENST00000388777.4_Missense_Mutation_p.S90R|SLC4A7_ENST00000425128.2_Missense_Mutation_p.S532R|RN7SL859P_ENST00000578725.1_RNA|SLC4A7_ENST00000428386.1_Missense_Mutation_p.S416R|SLC4A7_ENST00000455077.1_Missense_Mutation_p.S421R|SLC4A7_ENST00000440156.1_Missense_Mutation_p.S536R|SLC4A7_ENST00000435667.2_Missense_Mutation_p.S425R	NM_003615.4	NP_003606.3	Q9Y6M7	S4A7_HUMAN	solute carrier family 4, sodium bicarbonate cotransporter, member 7	540					auditory receptor cell development (GO:0060117)|bicarbonate transport (GO:0015701)|cochlear nucleus development (GO:0021747)|ion transport (GO:0006811)|retina vasculature morphogenesis in camera-type eye (GO:0061299)|retinal cell programmed cell death (GO:0046666)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|cell projection (GO:0042995)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|sodium:bicarbonate symporter activity (GO:0008510)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(9)|ovary(4)|skin(1)	38					Sodium bicarbonate(DB01390)	GAGAAGGGACACTTTTTGGTG	0.353																																						ENST00000295736.5																			0				NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(9)|ovary(4)|skin(1)	38						c.(1618-1620)agT>agG		solute carrier family 4, sodium bicarbonate cotransporter, member 7							113	109	110					3																	27459989		2203	4300	6503	SO:0001583	missense	9497					apical plasma membrane|basolateral plasma membrane|integral to membrane|stereocilium	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity	g.chr3:27459989A>C	AB012130	CCDS33721.1, CCDS58819.1, CCDS58820.1	3p24.1	2013-05-22			ENSG00000033867	ENSG00000033867		"Solute carriers"	11033	protein-coding gene	gene with protein product		603353		SLC4A6		10198178, 9610397	Standard	NM_003615		Approved	NBC3, SBC2	uc003cdv.4	Q9Y6M7	OTTHUMG00000155679	ENST00000295736.5:c.1620T>G	3.37:g.27459989A>C	ENSP00000295736:p.Ser540Arg					SLC4A7_ENST00000446700.1_Missense_Mutation_p.S532R|SLC4A7_ENST00000428386.1_Missense_Mutation_p.S416R|SLC4A7_ENST00000454389.1_Missense_Mutation_p.S549R|SLC4A7_ENST00000425128.2_Missense_Mutation_p.S532R|SLC4A7_ENST00000435667.2_Missense_Mutation_p.S425R|SLC4A7_ENST00000388777.4_Missense_Mutation_p.S90R|SLC4A7_ENST00000440156.1_Missense_Mutation_p.S536R|SLC4A7_ENST00000455077.1_Missense_Mutation_p.S421R|SLC4A7_ENST00000445684.1_Missense_Mutation_p.S536R|SLC4A7_ENST00000437179.1_Missense_Mutation_p.S421R	p.S540R	NM_003615.4	NP_003606.3	Q9Y6M7	S4A7_HUMAN			11	1690	-			540					A6NIA8|B2CI53|B5M449|B5M451|B5M452|B5M453|B6DY52|B6DY53|C9JST9|D3K174|D3K175|O60350|Q6AHZ9|Q9HC88|Q9UIB9	Missense_Mutation	SNP	ENST00000295736.5	37	c.1620T>G	CCDS33721.1	.	.	.	.	.	.	.	.	.	.	A	16.06	3.016330	0.54468	.	.	ENSG00000033867	ENST00000419036;ENST00000295736;ENST00000428386;ENST00000454389;ENST00000440156;ENST00000437179;ENST00000446700;ENST00000455077;ENST00000445684;ENST00000435667;ENST00000388777;ENST00000425128;ENST00000428179	T;T;T;T;T;T;T;T;T;T;T;T;T	0.79653	-1.29;-1.29;-1.29;-1.29;-1.29;-1.29;-1.29;-1.29;-1.29;-1.29;-1.29;-1.29;-1.29	5.73	1.82	0.25136	Bicarbonate transporter, cytoplasmic (1);Phosphotransferase/anion transporter (1);	0.039695	0.85682	D	0.000000	T	0.80660	0.4665	M	0.73962	2.25	0.37184	D	0.903626	P;B;P;B;B;B;B;P;B	0.34934	0.476;0.241;0.476;0.399;0.078;0.142;0.354;0.476;0.036	B;B;B;B;B;B;B;B;B	0.42030	0.313;0.206;0.231;0.128;0.06;0.139;0.373;0.313;0.097	T	0.78679	-0.2110	10	0.35671	T	0.21	.	10.6911	0.45870	0.7474:0.0:0.2526:0.0	.	536;421;532;536;549;90;416;540;421	E9PFN4;B5M452;E9PGC1;B5M453;E9PDL9;F8W7E6;Q9Y6M7-2;Q9Y6M7;B2CI53	.;.;.;.;.;.;.;S4A7_HUMAN;.	R	91;540;416;549;536;421;532;421;536;425;90;532;436	ENSP00000411031:S91R;ENSP00000295736:S540R;ENSP00000416368:S416R;ENSP00000390394:S549R;ENSP00000414797:S536R;ENSP00000394252:S421R;ENSP00000406605:S532R;ENSP00000407382:S421R;ENSP00000406804:S536R;ENSP00000395336:S425R;ENSP00000373429:S90R;ENSP00000401949:S532R;ENSP00000388703:S436R	ENSP00000295736:S540R	S	-	3	2	SLC4A7	27434993	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.496000	0.35638	0.394000	0.25230	0.533000	0.62120	AGT		0.353	SLC4A7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000341230.2	NM_003615		8	32	0	0	0	0.361761	0	8	32					C	27459989	A	C	27459989	3	2	78	1	0	0	0	0	1	0	0	0	14658	156	6	5	2084	5	SLC4A7	3	27459989	Missense_Mutation	SNP	A	TCGA-EJ-7115-01A-11D-2114-08		27459989	170562441	14	4074											
COL7A1	1294	broad.mit.edu	37	chr3	48608571	48608571	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caggaggcccaggggagcccGggaccccgactcctgggtca	7	3	16	15	2	1	0	1	0	0	0	2	4	2	3	5	6	1	0	5	6	0	0	rs150193295		TCGA-EJ-7115-01A-11D-2114-08	TCGA-EJ-7115-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67324969-d5d7-4ae7-b8f7-26b11d6c0439	6ee4d1f0-da1d-4650-9d06-7f1bc0b11407	g.chr3:48608571G>A	ENST00000328333.8	-	93	7234	c.7127C>T	c.(7126-7128)cCg>cTg	p.P2376L	COL7A1_ENST00000454817.1_Missense_Mutation_p.P2344L	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	2376	Triple-helical region.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|collagen type VII trimer (GO:0005590)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	serine-type endopeptidase inhibitor activity (GO:0004867)			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		AGGGGAGCCCGGGACCCCGAC	0.642																																						ENST00000328333.8																			0				NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137						c.(7126-7128)cCg>cTg		collagen, type VII, alpha 1		G	LEU/PRO	1,4405	2.1+/-5.4	0,1,2202	36	45	42		7127	0.4	0.5	3	dbSNP_134	42	0,8600		0,0,4300	no	missense	COL7A1	NM_000094.3	98	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	2376/2945	48608571	1,13005	2203	4300	6503	SO:0001583	missense	1294				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity	g.chr3:48608571G>A	L02870	CCDS2773.1	3p21.1	2014-09-17	2008-08-01		ENSG00000114270	ENSG00000114270		"Collagens", "Fibronectin type III domain containing"	2214	protein-coding gene	gene with protein product	"collagen VII, alpha-1 polypeptide", "LC collagen"	120120	"epidermolysis bullosa, dystrophic, dominant and recessive"	EBDCT, EBD1, EBR1		1871109	Standard	NM_000094		Approved		uc003ctz.2	Q02388	OTTHUMG00000133541	ENST00000328333.8:c.7127C>T	3.37:g.48608571G>A	ENSP00000332371:p.Pro2376Leu					COL7A1_ENST00000454817.1_Missense_Mutation_p.P2344L	p.P2376L	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)	93	7234	-			2376			Triple-helical region.		Q14054|Q16507	Missense_Mutation	SNP	ENST00000328333.8	37	c.7127C>T	CCDS2773.1	.	.	.	.	.	.	.	.	.	.	G	1.588	-0.529781	0.04112	2.27E-4	0.0	ENSG00000114270	ENST00000328333;ENST00000454817;ENST00000422991	D;D;D	0.96685	-3.87;-3.87;-4.09	4.39	0.374	0.16183	.	0.764980	0.11044	N	0.605811	D	0.93074	0.7795	M	0.70108	2.13	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	D	0.83644	0.0152	10	0.38643	T	0.18	.	0.8275	0.01124	0.3227:0.0985:0.1839:0.3948	.	2376	Q02388	CO7A1_HUMAN	L	2376;2344;41	ENSP00000332371:P2376L;ENSP00000412569:P2344L;ENSP00000391608:P41L	ENSP00000332371:P2376L	P	-	2	0	COL7A1	48583575	0.905000	0.30787	0.476000	0.27291	0.004000	0.04260	0.040000	0.13905	0.303000	0.22785	-1.475000	0.01000	CCG		0.642	COL7A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257519.1	NM_000094		4	95	0	0	0	0.150653	0	4	95					A	48608571	G	A	48608571	3	1	78	1	0	0	0	0	1	0	0	0	3704	1116	39	2	1811	2	COL7A1	3	48608571	Missense_Mutation	SNP	G	TCGA-EJ-7115-01A-11D-2114-08	21148582	48608571	149413859	15	4075											
LPHN3	23284	broad.mit.edu	37	chr4	62599226	62599226	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatgtatggaataactatcaCgtcgtgaaatattctttgga	13	15	8	5	2	2	1	1	1	1	0	3	3	2	3	0	2	1	1	0	2	7	7	rs373960206		TCGA-EJ-7115-01A-11D-2114-08	TCGA-EJ-7115-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67324969-d5d7-4ae7-b8f7-26b11d6c0439	6ee4d1f0-da1d-4650-9d06-7f1bc0b11407	g.chr4:62599226C>T	ENST00000514591.1	+	7	1478	c.1149C>T	c.(1147-1149)caC>caT	p.H383H	LPHN3_ENST00000507625.1_Silent_p.H451H|LPHN3_ENST00000509896.1_Silent_p.H451H|LPHN3_ENST00000506746.1_Silent_p.H451H|LPHN3_ENST00000512091.2_Silent_p.H383H|LPHN3_ENST00000514996.1_Silent_p.H383H|LPHN3_ENST00000511324.1_Silent_p.H451H|LPHN3_ENST00000545650.1_Silent_p.H383H|LPHN3_ENST00000514157.1_Silent_p.H383H|LPHN3_ENST00000508946.1_Silent_p.H383H|LPHN3_ENST00000508693.1_Silent_p.H451H|LPHN3_ENST00000506720.1_Silent_p.H451H|LPHN3_ENST00000506700.1_Silent_p.H383H|LPHN3_ENST00000507164.1_Silent_p.H451H|LPHN3_ENST00000504896.1_Silent_p.H383H			Q9HAR2	LPHN3_HUMAN	latrophilin 3	383	Olfactomedin-like. {ECO:0000255|PROSITE- ProRule:PRU00446}.				G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|G-protein coupled receptor activity (GO:0004930)			breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						ATAACTATCACGTCGTGAAAT	0.388																																						ENST00000512091.1																			0				breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						c.(1147-1149)caC>caT		latrophilin 3							60	54	56					4																	62599226		1845	4099	5944	SO:0001819	synonymous_variant	23284				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding	g.chr4:62599226C>T	AB018311	CCDS54768.1	4q13.1	2014-08-08				ENSG00000150471		"-", "GPCR / Class B : Orphans"	20974	protein-coding gene	gene with protein product						10994649	Standard	NM_015236		Approved	KIAA0768, LEC3	uc010ihh.3	Q9HAR2		ENST00000514591.1:c.1149C>T	4.37:g.62599226C>T						LPHN3_ENST00000511324.1_Silent_p.H451H|LPHN3_ENST00000508693.1_Silent_p.H451H|LPHN3_ENST00000514996.1_Silent_p.H383H|LPHN3_ENST00000507164.1_Silent_p.H451H|LPHN3_ENST00000506720.1_Silent_p.H451H|LPHN3_ENST00000508946.1_Silent_p.H383H|LPHN3_ENST00000545650.1_Silent_p.H383H|LPHN3_ENST00000514157.1_Silent_p.H383H|LPHN3_ENST00000506700.1_Silent_p.H383H|LPHN3_ENST00000507625.1_Silent_p.H451H|LPHN3_ENST00000506746.1_Silent_p.H451H|LPHN3_ENST00000509896.1_Silent_p.H451H|LPHN3_ENST00000504896.1_Silent_p.H383H|LPHN3_ENST00000514591.1_Silent_p.H383H	p.H383H			Q9HAR2	LPHN3_HUMAN			7	1896	+			383			Olfactomedin-like.		E9PE04|O94867|Q9NWK5	Silent	SNP	ENST00000514591.1	37	c.1149C>T	CCDS54768.1																																																																																				0.388	LPHN3-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000361765.1			10	32	0	0	0	0.361761	0	10	32					T	62599226	C	T	62599226	2	4	78	1	0	0	0	0	0	0	0	1	8917	535	19	1		1	LPHN3	4	62599226	Silent	SNP	C	TCGA-EJ-7115-01A-11D-2114-08		62599226	128555050	16	4076											
PCDH18	54510	broad.mit.edu	37	chr4	138451634	138451634	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaagtgatctgactcacttCttcatgatcaaagattctga	14	13	6	8	0	6	5	3	4	3	1	6	5	6	5	0	0	0	0	0	0	3	3			TCGA-EJ-7115-01A-11D-2114-08	TCGA-EJ-7115-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67324969-d5d7-4ae7-b8f7-26b11d6c0439	6ee4d1f0-da1d-4650-9d06-7f1bc0b11407	g.chr4:138451634C>A	ENST00000344876.4	-	1	1995	c.1609G>T	c.(1609-1611)Gaa>Taa	p.E537*	PCDH18_ENST00000412923.2_Nonsense_Mutation_p.E537*|PCDH18_ENST00000511115.1_Intron|PCDH18_ENST00000507846.1_Nonsense_Mutation_p.E317*|PCDH18_ENST00000510305.1_Intron	NM_019035.3	NP_061908.1	Q9HCL0	PCD18_HUMAN	protocadherin 18	537	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				brain development (GO:0007420)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					TGACTCACTTCTTCATGATCA	0.418																																						ENST00000344876.4																			0				NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86						c.(1609-1611)Gaa>Taa		protocadherin 18							122	122	122					4																	138451634		2203	4300	6503	SO:0001587	stop_gained	54510				brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:138451634C>A	AL137471	CCDS34064.1, CCDS75193.1	4q28.3	2010-01-26			ENSG00000189184	ENSG00000189184		"Cadherins / Protocadherins : Non-clustered"	14268	protein-coding gene	gene with protein product		608287				10835267, 11549318	Standard	XM_005263070		Approved	KIAA1562, PCDH68L	uc003ihe.4	Q9HCL0	OTTHUMG00000161348	ENST00000344876.4:c.1609G>T	4.37:g.138451634C>A	ENSP00000355082:p.Glu537*					PCDH18_ENST00000511115.1_Intron|PCDH18_ENST00000510305.1_Intron|PCDH18_ENST00000412923.2_Nonsense_Mutation_p.E537*|PCDH18_ENST00000507846.1_Nonsense_Mutation_p.E317*	p.E537*	NM_019035.3	NP_061908.1	Q9HCL0	PCD18_HUMAN			1	1995	-	all_hematologic(180;0.24)		537			Cadherin 5.		A8K7K3|B7ZKT1|Q52LS2	Nonsense_Mutation	SNP	ENST00000344876.4	37	c.1609G>T	CCDS34064.1	.	.	.	.	.	.	.	.	.	.	C	42	9.684594	0.99238	.	.	ENSG00000189184	ENST00000344876;ENST00000412923;ENST00000507846	.	.	.	5.93	5.93	0.95920	.	0.000000	0.43919	D	0.000509	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	.	20.3437	0.98782	0.0:1.0:0.0:0.0	.	.	.	.	X	537;537;317	.	ENSP00000355082:E537X	E	-	1	0	PCDH18	138671084	1.000000	0.71417	0.981000	0.43875	0.945000	0.59286	7.767000	0.85331	2.802000	0.96397	0.563000	0.77884	GAA		0.418	PCDH18-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364614.1	NM_019035		48	132	1	0	1.22102e-19	0.870114	1.47297e-19	48	132					A	138451634	C	A	138451634	4	1	78	1	0	0	0	0	0	1	0	0	11513	922	32	5	1814	5	PCDH18	4	138451634	Nonsense_Mutation	SNP	C	TCGA-EJ-7115-01A-11D-2114-08	75852408	138451634	52702642	17	4077											
KLHL2	11275	broad.mit.edu	37	chr4	166234520	166234520	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	accaggcggagtggagcaggTacatgtgaacctgttttagc	10	9	14	8	1	0	1	0	1	0	0	0	3	0	3	2	4	4	3	2	4	3	3			TCGA-EJ-7115-01A-11D-2114-08	TCGA-EJ-7115-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67324969-d5d7-4ae7-b8f7-26b11d6c0439	6ee4d1f0-da1d-4650-9d06-7f1bc0b11407	g.chr4:166234520T>C	ENST00000226725.6	+	12	1727		c.e12+2		KLHL2_ENST00000538127.1_Splice_Site|KLHL2_ENST00000421009.2_Splice_Site|KLHL2_ENST00000506761.1_Splice_Site|KLHL2_ENST00000514860.1_Splice_Site|KLHL2_ENST00000509028.1_Splice_Site	NM_007246.3	NP_009177.3	O95198	KLHL2_HUMAN	kelch-like family member 2						protein ubiquitination (GO:0016567)	actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)	actin binding (GO:0003779)			endometrium(3)|large_intestine(5)|lung(4)|prostate(1)|urinary_tract(1)	14	all_hematologic(180;0.221)			GBM - Glioblastoma multiforme(119;2.94e-27)|COAD - Colon adenocarcinoma(41;1.4e-05)|Kidney(143;4.95e-05)|KIRC - Kidney renal clear cell carcinoma(143;0.000927)		GTGGAGCAGGTACATGTGAAC	0.383																																						ENST00000226725.6																			0				endometrium(3)|large_intestine(5)|lung(4)|prostate(1)|urinary_tract(1)	14						c.e12+2		kelch-like family member 2							115	106	109					4																	166234520		2203	4300	6503	SO:0001630	splice_region_variant	11275				intracellular protein transport	actin cytoskeleton|cytoplasm	actin binding|transporter activity	g.chr4:166234520T>C	AF059569	CCDS34094.1, CCDS54815.1, CCDS54816.1	4q21.2	2013-01-30	2013-01-30		ENSG00000109466	ENSG00000109466		"Kelch-like", "BTB/POZ domain containing"	6353	protein-coding gene	gene with protein product	"mayven"	605774	"kelch (Drosophila)-like 2 (Mayven)", "kelch-like 2, Mayven (Drosophila)"			10397770, 16035103	Standard	NM_007246		Approved	MAV	uc011cjm.2	O95198	OTTHUMG00000161294	ENST00000226725.6:c.1468+2T>C	4.37:g.166234520T>C						KLHL2_ENST00000506761.1_Splice_Site|KLHL2_ENST00000538127.1_Splice_Site|KLHL2_ENST00000514860.1_Splice_Site|KLHL2_ENST00000509028.1_Splice_Site|KLHL2_ENST00000421009.2_Splice_Site		NM_007246.3	NP_009177.3	O95198	KLHL2_HUMAN		GBM - Glioblastoma multiforme(119;2.94e-27)|COAD - Colon adenocarcinoma(41;1.4e-05)|Kidney(143;4.95e-05)|KIRC - Kidney renal clear cell carcinoma(143;0.000927)	12	1727	+	all_hematologic(180;0.221)							A6NCM7|B2RD18|B4DFH7|F5H6M3|Q8N484|Q8TBH5	Splice_Site	SNP	ENST00000226725.6	37		CCDS34094.1	.	.	.	.	.	.	.	.	.	.	T	13.22	2.173371	0.38413	.	.	ENSG00000109466	ENST00000226725;ENST00000514860;ENST00000538127;ENST00000421009;ENST00000506761	.	.	.	5.93	5.93	0.95920	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.3943	0.83563	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	KLHL2	166453970	1.000000	0.71417	0.970000	0.41538	0.048000	0.14542	6.302000	0.72788	2.281000	0.76405	0.533000	0.62120	.		0.383	KLHL2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000364439.1		Intron	16	50	0	0	0	0.557998	0	16	50					C	166234520	T	C	166234520	5	2	78	1	0	0	0	0	0	0	1	0	8374	1652	57	4	1558	4	KLHL2	4	166234520	Splice_Site	SNP	T	TCGA-EJ-7115-01A-11D-2114-08	27782886	166234520	24919756	18	4078											
FRG1	2483	broad.mit.edu	37	chr4	190862186	190862186	+	Nonsense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggccgagtactcctacgtgAagtctaccaagctcgtgctc	8	10	10	13	3	1	1	0	1	1	0	4	2	2	1	3	1	5	3	3	1	5	3			TCGA-EJ-7115-01A-11D-2114-08	TCGA-EJ-7115-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67324969-d5d7-4ae7-b8f7-26b11d6c0439	6ee4d1f0-da1d-4650-9d06-7f1bc0b11407	g.chr4:190862186A>T	ENST00000226798.4	+	1	244	c.22A>T	c.(22-24)Aag>Tag	p.K8*	FRG1_ENST00000514482.1_3'UTR	NM_004477.2	NP_004468.1	Q14331	FRG1_HUMAN	FSHD region gene 1	8	Lys-rich.				mRNA splicing, via spliceosome (GO:0000398)|muscle organ development (GO:0007517)|rRNA processing (GO:0006364)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|lung(11)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|urinary_tract(1)	32		all_cancers(14;1.44e-58)|all_epithelial(14;6.32e-41)|all_lung(41;8.13e-17)|Lung NSC(41;2.13e-16)|Breast(6;2.54e-06)|Melanoma(20;0.000263)|Hepatocellular(41;0.00213)|Renal(120;0.0183)|all_hematologic(60;0.0358)|Prostate(90;0.0421)|all_neural(102;0.147)		all cancers(3;1.73e-30)|Epithelial(3;5.85e-30)|OV - Ovarian serous cystadenocarcinoma(60;5.56e-15)|BRCA - Breast invasive adenocarcinoma(30;9.14e-06)|Lung(3;3.54e-05)|STAD - Stomach adenocarcinoma(60;8.83e-05)|LUSC - Lung squamous cell carcinoma(40;0.000198)|GBM - Glioblastoma multiforme(59;0.00892)|READ - Rectum adenocarcinoma(43;0.161)		CTCCTACGTGAAGTCTACCAA	0.637											OREG0016457	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000226798.4																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|lung(11)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|urinary_tract(1)	32						c.(22-24)Aag>Tag		FSHD region gene 1							38	41	40					4																	190862186		2203	4300	6503	SO:0001587	stop_gained	2483				rRNA processing	Cajal body|catalytic step 2 spliceosome|nuclear speck|nucleolus		g.chr4:190862186A>T	L76159	CCDS34121.1	4q35	2008-02-05			ENSG00000109536	ENSG00000109536			3954	protein-coding gene	gene with protein product		601278				8733123	Standard	XM_005262880		Approved	FSG1, FRG1A	uc003izs.3	Q14331	OTTHUMG00000160202	ENST00000226798.4:c.22A>T	4.37:g.190862186A>T	ENSP00000226798:p.Lys8*		OREG0016457	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	2041	FRG1_ENST00000514482.1_3'UTR	p.K8*	NM_004477.2	NP_004468.1	Q14331	FRG1_HUMAN		all cancers(3;1.73e-30)|Epithelial(3;5.85e-30)|OV - Ovarian serous cystadenocarcinoma(60;5.56e-15)|BRCA - Breast invasive adenocarcinoma(30;9.14e-06)|Lung(3;3.54e-05)|STAD - Stomach adenocarcinoma(60;8.83e-05)|LUSC - Lung squamous cell carcinoma(40;0.000198)|GBM - Glioblastoma multiforme(59;0.00892)|READ - Rectum adenocarcinoma(43;0.161)	1	244	+		all_cancers(14;1.44e-58)|all_epithelial(14;6.32e-41)|all_lung(41;8.13e-17)|Lung NSC(41;2.13e-16)|Breast(6;2.54e-06)|Melanoma(20;0.000263)|Hepatocellular(41;0.00213)|Renal(120;0.0183)|all_hematologic(60;0.0358)|Prostate(90;0.0421)|all_neural(102;0.147)	8			Lys-rich.		A8K775	Nonsense_Mutation	SNP	ENST00000226798.4	37	c.22A>T	CCDS34121.1	.	.	.	.	.	.	.	.	.	.	.	37	6.523272	0.97633	.	.	ENSG00000109536	ENST00000226798	.	.	.	4.01	4.01	0.46588	.	0.048664	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-17.2842	9.5632	0.39383	1.0:0.0:0.0:0.0	.	.	.	.	X	8	.	ENSP00000226798:K8X	K	+	1	0	FRG1	191099180	1.000000	0.71417	0.993000	0.49108	0.232000	0.25224	4.718000	0.61930	1.815000	0.52974	0.449000	0.29647	AAG		0.637	FRG1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000359622.4	NM_004477		3	24	0	0	0	0.150653	0	3	24					T	190862186	A	T	190862186	4	4	78	1	0	0	0	0	0	1	0	0	6046	247	9	5	24	5	FRG1	4	190862186	Nonsense_Mutation	SNP	A	TCGA-EJ-7115-01A-11D-2114-08	24627666	190862186	292090	19	4079											
SLC25A46	91137	broad.mit.edu	37	chr5	110097209	110097209	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgccagtctttgttctgaCgttatactttacccattgga	7	16	8	10	1	2	1	0	1	2	0	2	2	2	2	2	1	3	3	2	1	3	7			TCGA-EJ-7115-01A-11D-2114-08	TCGA-EJ-7115-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67324969-d5d7-4ae7-b8f7-26b11d6c0439	6ee4d1f0-da1d-4650-9d06-7f1bc0b11407	g.chr5:110097209C>T	ENST00000355943.3	+	8	1110	c.984C>T	c.(982-984)gaC>gaT	p.D328D	SLC25A46_ENST00000509442.2_Silent_p.D237D|SLC25A46_ENST00000447245.2_Silent_p.D247D|SLC25A46_ENST00000513706.1_3'UTR|SLC25A46_ENST00000504098.1_Silent_p.D182D|SLC25A46_ENST00000513807.1_Silent_p.D166D|SLC25A46_ENST00000509432.1_Silent_p.D115D	NM_138773.1	NP_620128.1	Q96AG3	S2546_HUMAN	solute carrier family 25, member 46	328					transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|skin(1)	10		all_cancers(142;0.00203)|all_epithelial(76;4.52e-05)|Prostate(80;0.0115)|Colorectal(57;0.0676)|Ovarian(225;0.156)		OV - Ovarian serous cystadenocarcinoma(64;2.58e-09)|Epithelial(69;7.29e-08)|all cancers(49;9.35e-06)|COAD - Colon adenocarcinoma(37;0.211)		TTTGTTCTGACGTTATACTTT	0.428																																						ENST00000355943.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|skin(1)	10						c.(982-984)gaC>gaT		solute carrier family 25, member 46							288	278	281					5																	110097209		2202	4300	6502	SO:0001819	synonymous_variant	91137				transport	integral to membrane|mitochondrial inner membrane		g.chr5:110097209C>T	BC017169	CCDS4100.1	5q22.1	2013-05-22			ENSG00000164209	ENSG00000164209		"Solute carriers"	25198	protein-coding gene	gene with protein product		610826				1651562, 1651563, 16949250	Standard	NM_138773		Approved		uc003koz.3	Q96AG3	OTTHUMG00000128794	ENST00000355943.3:c.984C>T	5.37:g.110097209C>T						SLC25A46_ENST00000447245.2_Silent_p.D247D|SLC25A46_ENST00000513706.1_3'UTR|SLC25A46_ENST00000509432.1_Silent_p.D115D|SLC25A46_ENST00000509442.2_Silent_p.D237D|SLC25A46_ENST00000513807.1_Silent_p.D166D|SLC25A46_ENST00000504098.1_Silent_p.D182D	p.D328D	NM_138773.1	NP_620128.1	Q96AG3	S2546_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;2.58e-09)|Epithelial(69;7.29e-08)|all cancers(49;9.35e-06)|COAD - Colon adenocarcinoma(37;0.211)	8	1110	+		all_cancers(142;0.00203)|all_epithelial(76;4.52e-05)|Prostate(80;0.0115)|Colorectal(57;0.0676)|Ovarian(225;0.156)	328					A8K2F2|B3KRE6|B4DTA3|D3DSZ6|D6R9W7|Q04197	Silent	SNP	ENST00000355943.3	37	c.984C>T	CCDS4100.1																																																																																				0.428	SLC25A46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250721.5	NM_138773		17	340	0	0	0	0.575678	0	17	340					T	110097209	C	T	110097209	2	4	78	1	0	0	0	0	0	0	0	1	14511	535	19	1		1	SLC25A46	5	110097209	Silent	SNP	C	TCGA-EJ-7115-01A-11D-2114-08		110097209	70818051	20	4080											
PCYOX1L	78991	broad.mit.edu	37	chr5	148747557	148747557	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgtgctcttttctttccagaGgggaaagccctgtaccaggt	7	13	11	10	0	2	1	0	0	2	1	3	2	3	2	3	3	3	2	3	3	2	4	rs34811631		TCGA-EJ-7115-01A-11D-2114-08	TCGA-EJ-7115-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67324969-d5d7-4ae7-b8f7-26b11d6c0439	6ee4d1f0-da1d-4650-9d06-7f1bc0b11407	g.chr5:148747557G>A	ENST00000274569.4	+	6	887	c.825G>A	c.(823-825)gaG>gaA	p.E275E	PCYOX1L_ENST00000514349.1_Splice_Site_p.E185E	NM_024028.3	NP_076933.3	Q8NBM8	PCYXL_HUMAN	prenylcysteine oxidase 1 like	275					prenylcysteine catabolic process (GO:0030328)	extracellular region (GO:0005576)|membrane (GO:0016020)	prenylcysteine oxidase activity (GO:0001735)			breast(2)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	11			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCTTTCCAGAGGGGAAAGCCC	0.532											OREG0016912	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									Ovarian(62;1136 1477 27277 27495)	ENST00000514349.1																			0				breast(2)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	11						c.e5-1		prenylcysteine oxidase 1 like							98	94	95					5																	148747557		2203	4300	6503	SO:0001630	splice_region_variant	78991				prenylcysteine catabolic process	extracellular region	oxidoreductase activity, acting on a sulfur group of donors, oxygen as acceptor	g.chr5:148747557G>A		CCDS4296.1	5q33.1	2008-02-05			ENSG00000145882	ENSG00000145882			28477	protein-coding gene	gene with protein product						12477932	Standard	NM_024028		Approved	MGC3265	uc003lqk.2	Q8NBM8	OTTHUMG00000130052	ENST00000274569.4:c.824-1G>A	5.37:g.148747557G>A			OREG0016912	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1719	PCYOX1L_ENST00000274569.4_Splice_Site_p.E275_splice	p.E185_splice			Q8NBM8	PCYXL_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		5	1134	+			275					Q7Z4S2|Q8NCY5|Q8NF69|Q9BTE8|Q9BWS3	Splice_Site	SNP	ENST00000274569.4	37	c.553_splice	CCDS4296.1																																																																																				0.532	PCYOX1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252331.2	NM_024028	Silent	32	101	0	0	0	0.760397	0	32	101					A	148747557	G	A	148747557	5	1	78	1	0	0	0	0	0	0	1	0	11609	1014	35	3	847	3	PCYOX1L	5	148747557	Splice_Site	SNP	G	TCGA-EJ-7115-01A-11D-2114-08	38650348	148747557	32167703	21	4081											
FILIP1	27145	broad.mit.edu	37	chr6	76022647	76022647	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggccaagagtagtatctccActtttttgtttttgaggcat	8	16	10	7	0	1	2	0	1	1	1	2	2	1	2	2	2	0	4	2	2	3	7			TCGA-EJ-7115-01A-11D-2114-08	TCGA-EJ-7115-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67324969-d5d7-4ae7-b8f7-26b11d6c0439	6ee4d1f0-da1d-4650-9d06-7f1bc0b11407	g.chr6:76022647A>C	ENST00000237172.7	-	5	3231	c.2901T>G	c.(2899-2901)agT>agG	p.S967R	FILIP1_ENST00000393004.2_Missense_Mutation_p.S967R|FILIP1_ENST00000370020.1_Missense_Mutation_p.S868R|FILIP1_ENST00000498523.1_5'UTR	NM_015687.2	NP_056502.1	Q7Z7B0	FLIP1_HUMAN	filamin A interacting protein 1	967										breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						TAGTATCTCCACTTTTTTGTT	0.413																																						ENST00000393004.2																			0				breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						c.(2899-2901)agT>agG		filamin A interacting protein 1							112	111	112					6																	76022647		2203	4300	6503	SO:0001583	missense	27145							g.chr6:76022647A>C	AB033101	CCDS4984.1, CCDS75480.1	6q14.1	2008-02-05			ENSG00000118407	ENSG00000118407			21015	protein-coding gene	gene with protein product		607307				10574462	Standard	XM_005248713		Approved	FILIP, KIAA1275	uc003pia.3	Q7Z7B0	OTTHUMG00000015056	ENST00000237172.7:c.2901T>G	6.37:g.76022647A>C	ENSP00000237172:p.Ser967Arg					FILIP1_ENST00000498523.1_5'UTR|FILIP1_ENST00000237172.7_Missense_Mutation_p.S967R|FILIP1_ENST00000370020.1_Missense_Mutation_p.S868R	p.S967R			Q7Z7B0	FLIP1_HUMAN			5	3122	-			967					B2RMU6|Q5VUL6|Q86TC3|Q8N8B9|Q96SK6|Q9NVI8|Q9ULE5	Missense_Mutation	SNP	ENST00000237172.7	37	c.2901T>G	CCDS4984.1	.	.	.	.	.	.	.	.	.	.	A	10.40	1.339231	0.24339	.	.	ENSG00000118407	ENST00000393004;ENST00000237172;ENST00000370020	T;T;T	0.19394	2.15;2.15;2.15	5.8	-4.56	0.03431	.	0.349906	0.32987	N	0.005412	T	0.03390	0.0098	N	0.24115	0.695	0.23510	N	0.997527	B;B;P	0.35542	0.38;0.375;0.508	B;B;B	0.39503	0.102;0.158;0.301	T	0.33879	-0.9851	10	0.35671	T	0.21	-1.9222	1.5642	0.02601	0.2844:0.0989:0.3325:0.2842	.	967;967;967	A8K2G7;Q7Z7B0;Q7Z7B0-2	.;FLIP1_HUMAN;.	R	967;967;868	ENSP00000376728:S967R;ENSP00000237172:S967R;ENSP00000359037:S868R	ENSP00000237172:S967R	S	-	3	2	FILIP1	76079367	0.000000	0.05858	0.963000	0.40424	0.527000	0.34593	-0.533000	0.06157	-0.159000	0.11021	0.533000	0.62120	AGT		0.413	FILIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041263.1	XM_029179		40	94	0	0	0	0.812448	0	40	94					C	76022647	A	C	76022647	3	2	78	1	0	0	0	0	1	0	0	0	5894	156	6	5	748	5	FILIP1	6	76022647	Missense_Mutation	SNP	A	TCGA-EJ-7115-01A-11D-2114-08		76022647	95092420	22	4082											
MAP3K7	6885	broad.mit.edu	37	chr6	91226267	91226269	+	In_Frame_Del	DEL	GTT	GTT	-																															ctgacttctgatgacctctaGttgttttttgcattgctggt																										TCGA-EJ-7115-01A-11D-2114-08	TCGA-EJ-7115-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67324969-d5d7-4ae7-b8f7-26b11d6c0439	6ee4d1f0-da1d-4650-9d06-7f1bc0b11407	g.chr6:91226267_91226269delGTT	ENST00000369329.3	-	17	1933_1935	c.1772_1774delAAC	c.(1771-1776)caacta>cta	p.Q591del	MAP3K7_ENST00000369325.3_3'UTR|MAP3K7_ENST00000369320.1_In_Frame_Del_p.Q245del|MAP3K7_ENST00000479630.1_5'UTR|MAP3K7_ENST00000369332.3_In_Frame_Del_p.Q564del|MAP3K7_ENST00000369327.3_3'UTR	NM_145331.2	NP_663304.1	O43318	M3K7_HUMAN	mitogen-activated protein kinase kinase kinase 7	591					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|activation of NF-kappaB-inducing kinase activity (GO:0007250)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|Fc-epsilon receptor signaling pathway (GO:0038095)|histone H3 acetylation (GO:0043966)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|I-kappaB phosphorylation (GO:0007252)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of ripoptosome assembly involved in necroptotic process (GO:1902443)|neural tube formation (GO:0001841)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell cytokine production (GO:0002726)|regulation of reactive oxygen species metabolic process (GO:2000377)|stress-activated MAPK cascade (GO:0051403)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome membrane (GO:0010008)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|MAP kinase kinase activity (GO:0004708)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|scaffold protein binding (GO:0097110)			endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	28		all_cancers(76;6.4e-08)|Acute lymphoblastic leukemia(125;1.43e-09)|Prostate(29;9.32e-09)|all_hematologic(105;3.69e-06)|all_epithelial(107;0.000187)|Ovarian(999;0.0164)		OV - Ovarian serous cystadenocarcinoma(136;2.05e-11)|all cancers(137;3.25e-11)|GBM - Glioblastoma multiforme(226;0.0416)|BRCA - Breast invasive adenocarcinoma(108;0.0429)		ATGACCTCTAGTTGTTTTTTGCA	0.374																																						ENST00000369329.3																			0				endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	28						c.(1771-1776)cta>c		mitogen-activated protein kinase kinase kinase 7																																				SO:0001651	inframe_deletion	6885				activation of MAPK activity|activation of NF-kappaB-inducing kinase activity|histone H3 acetylation|I-kappaB phosphorylation|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-2 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of T cell cytokine production|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transforming growth factor beta receptor signaling pathway	Ada2/Gcn5/Ada3 transcription activator complex|cytosol|endosome membrane	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein binding	g.chr6:91226267_91226269delGTT	AB009356	CCDS5027.1, CCDS5028.1, CCDS5029.1, CCDS5030.1	6q15	2011-06-09			ENSG00000135341	ENSG00000135341		"Mitogen-activated protein kinase cascade / Kinase kinase kinases"	6859	protein-coding gene	gene with protein product		602614		TAK1		9466656	Standard	NM_003188		Approved	MEKK7	uc003pnz.2	O43318	OTTHUMG00000015217	ENST00000369329.3:c.1772_1774delAAC	6.37:g.91226270_91226272delGTT	ENSP00000358335:p.Gln591del					MAP3K7_ENST00000479630.1_5'UTR|MAP3K7_ENST00000369320.1_In_Frame_Del_p.QL245del|MAP3K7_ENST00000369332.3_In_Frame_Del_p.QL564del|MAP3K7_ENST00000369327.3_3'UTR|MAP3K7_ENST00000369325.3_3'UTR	p.QL591del	NM_145331.2	NP_663304.1	O43318	M3K7_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;2.05e-11)|all cancers(137;3.25e-11)|GBM - Glioblastoma multiforme(226;0.0416)|BRCA - Breast invasive adenocarcinoma(108;0.0429)	17	1933_1935	-		all_cancers(76;6.4e-08)|Acute lymphoblastic leukemia(125;1.43e-09)|Prostate(29;9.32e-09)|all_hematologic(105;3.69e-06)|all_epithelial(107;0.000187)|Ovarian(999;0.0164)	591					B2RE27|E1P523|O43317|O43319|Q5TDN2|Q5TDN3|Q5TDT7|Q9NTR3|Q9NZ70	In_Frame_Del	DEL	ENST00000369329.3	37	c.1772_1774delAAC	CCDS5028.1																																																																																				0.374	MAP3K7-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041530.1	NM_145331		18	107						18	107	---	---	---	---	-	91226269	GTT	-	91226267	7	5	78	1	0	1	0	1	0	0	0	0	9255	1020	36	0	50	0	MAP3K7	6	91226267	In_Frame_Del	DEL	GTT	TCGA-EJ-7115-01A-11D-2114-08	15203620	91226267	79888800	23	4083											
ASCC3	10973	broad.mit.edu	37	chr6	101098516	101098516	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	attttcccataactattctcTacacctccaggagtggagag	11	12	7	11	0	1	1	0	0	1	1	4	3	3	2	3	2	2	0	3	2	3	6			TCGA-EJ-7115-01A-11D-2114-08	TCGA-EJ-7115-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67324969-d5d7-4ae7-b8f7-26b11d6c0439	6ee4d1f0-da1d-4650-9d06-7f1bc0b11407	g.chr6:101098516T>C	ENST00000369162.2	-	20	3494	c.3150A>G	c.(3148-3150)gtA>gtG	p.V1050V		NM_006828.2	NP_006819.2	Q8N3C0	ASCC3_HUMAN	activating signal cointegrator 1 complex subunit 3	1050	SEC63 1.		V -> I (in dbSNP:rs9497983).		cell proliferation (GO:0008283)|DNA dealkylation involved in DNA repair (GO:0006307)|DNA duplex unwinding (GO:0032508)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular (GO:0005622)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent 3'-5' DNA helicase activity (GO:0043140)|poly(A) RNA binding (GO:0044822)			breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(20)|liver(1)|lung(36)|ovary(6)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	92		all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199)		AACTATTCTCTACACCTCCAG	0.363																																						ENST00000369162.2																			0				breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(20)|liver(1)|lung(36)|ovary(6)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	92						c.(3148-3150)gtA>gtG		activating signal cointegrator 1 complex subunit 3							108	111	110					6																	101098516		2203	4300	6503	SO:0001819	synonymous_variant	10973				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton	ATP binding|ATP-dependent helicase activity|nucleic acid binding	g.chr6:101098516T>C	AJ223948	CCDS5046.1, CCDS5047.1, CCDS75497.1	6q16	2008-02-05		2004-07-28	ENSG00000112249	ENSG00000112249			18697	protein-coding gene	gene with protein product	"RNA helicase family"	614217	"helicase, ATP binding 1"	HELIC1		10218103	Standard	NM_006828		Approved	RNAH, ASC1p200, dJ121G13.4, dJ467N11.1	uc003pqk.3	Q8N3C0	OTTHUMG00000015279	ENST00000369162.2:c.3150A>G	6.37:g.101098516T>C							p.V1050V	NM_006828.2	NP_006819.2	Q8N3C0	HELC1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199)	20	3494	-		all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13)	1050		V -> I (in dbSNP:rs9497983).	SEC63 1.		E7EW23|O43738|Q4G1A0|Q5VTN2|Q9H1I9|Q9H5A2|Q9NTR0	Silent	SNP	ENST00000369162.2	37	c.3150A>G	CCDS5046.1																																																																																				0.363	ASCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041632.2	NM_006828		28	40	0	0	0	0.693898	0	28	40					C	101098516	T	C	101098516	2	2	78	1	0	0	0	0	0	0	0	1	1033	1509	53	4		4	ASCC3	6	101098516	Silent	SNP	T	TCGA-EJ-7115-01A-11D-2114-08	9872249	101098516	70016551	24	4084											
SNX13	23161	broad.mit.edu	37	chr7	17915291	17915291	+	Splice_Site	DEL	C	C	-																															caaatggaataaagatattaCctttcacttgatcatctttc																										TCGA-EJ-7115-01A-11D-2114-08	TCGA-EJ-7115-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67324969-d5d7-4ae7-b8f7-26b11d6c0439	6ee4d1f0-da1d-4650-9d06-7f1bc0b11407	g.chr7:17915291delC	ENST00000409389.1	-	6	735		c.e6+1		SNX13_ENST00000428135.3_Splice_Site			Q9Y5W8	SNX13_HUMAN	sorting nexin 13						intracellular protein transport (GO:0006886)|positive regulation of GTPase activity (GO:0043547)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	early endosome (GO:0005769)|membrane (GO:0016020)	phosphatidylinositol binding (GO:0035091)			breast(1)|central_nervous_system(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(13)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38	Lung NSC(10;0.0261)|all_lung(11;0.0521)					AAAGATATTACCTTTCACTTG	0.313																																						ENST00000409389.1																			0				breast(1)|central_nervous_system(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(13)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38						c.e6+1		sorting nexin 13							145	127	133					7																	17915291		1817	4072	5889	SO:0001630	splice_region_variant	23161				cell communication|intracellular protein transport|negative regulation of signal transduction|positive regulation of GTPase activity	early endosome membrane	phosphatidylinositol binding|signal transducer activity	g.chr7:17915291delC	AF420470	CCDS47551.1	7p21.1	2008-03-11			ENSG00000071189	ENSG00000071189		"Sorting nexins"	21335	protein-coding gene	gene with protein product		606589				11485546, 11729322	Standard	NM_015132		Approved	RGS-PX1, KIAA0713	uc003stv.3	Q9Y5W8	OTTHUMG00000152730	ENST00000409389.1:c.562+1G>-	7.37:g.17915291delC						SNX13_ENST00000428135.3_Splice_Site				Q9Y5W8	SNX13_HUMAN			6	735	-	Lung NSC(10;0.0261)|all_lung(11;0.0521)							B2RCI9|O94821|Q8WVZ2|Q8WXH8	Splice_Site	DEL	ENST00000409389.1	37																																																																																						0.313	SNX13-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000327608.1	NM_015132	Intron	5	9						5	9	---	---	---	---	-	17915291	C	-	17915291	8	5	78	1	0	1	0	1	0	0	1	0	14884	521	18	0	2394	0	SNX13	7	17915291	Splice_Site	DEL	C	TCGA-EJ-7115-01A-11D-2114-08		17915291	141223372	25	4085											
LRGUK	136332	broad.mit.edu	37	chr7	133827909	133827909	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	aatttcaagccacccaaaaaCctcaaggtagactttatgaa	17	9	5	10	0	2	2	2	1	0	1	2	2	2	2	3	1	2	1	3	1	8	4			TCGA-EJ-7115-01A-11D-2114-08	TCGA-EJ-7115-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67324969-d5d7-4ae7-b8f7-26b11d6c0439	6ee4d1f0-da1d-4650-9d06-7f1bc0b11407	g.chr7:133827909C>A	ENST00000285928.2	+	4	651	c.582C>A	c.(580-582)aaC>aaA	p.N194K		NM_144648.1	NP_653249.1	Q96M69	LRGUK_HUMAN	leucine-rich repeats and guanylate kinase domain containing	194						cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|kinase activity (GO:0016301)			breast(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	49						CACCCAAAAACCTCAAGGTAG	0.338																																						ENST00000285928.2																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	49						c.(580-582)aaC>aaA		leucine-rich repeats and guanylate kinase domain containing							130	123	125					7																	133827909		2203	4299	6502	SO:0001583	missense	136332						ATP binding|kinase activity	g.chr7:133827909C>A	AK057348	CCDS5830.1	7q33	2006-10-27			ENSG00000155530	ENSG00000155530			21964	protein-coding gene	gene with protein product							Standard	NM_144648		Approved	FLJ32786	uc003vrm.1	Q96M69	OTTHUMG00000155320	ENST00000285928.2:c.582C>A	7.37:g.133827909C>A	ENSP00000285928:p.Asn194Lys						p.N194K	NM_144648.1	NP_653249.1	Q96M69	LRGUK_HUMAN			4	651	+			194					Q2M3I1	Missense_Mutation	SNP	ENST00000285928.2	37	c.582C>A	CCDS5830.1	.	.	.	.	.	.	.	.	.	.	C	9.435	1.086617	0.20390	.	.	ENSG00000155530	ENST00000285928	T	0.26518	1.73	4.65	2.22	0.28083	.	0.146245	0.43260	N	0.000587	T	0.18800	0.0451	L	0.41961	1.31	0.36354	D	0.860282	B	0.23937	0.094	B	0.23716	0.048	T	0.10064	-1.0646	10	0.36615	T	0.2	-9.2337	6.0723	0.19895	0.0:0.0916:0.1636:0.7448	.	194	Q96M69	LRGUK_HUMAN	K	194	ENSP00000285928:N194K	ENSP00000285928:N194K	N	+	3	2	LRGUK	133478449	0.993000	0.37304	0.999000	0.59377	0.565000	0.35776	0.084000	0.14891	0.158000	0.19367	-0.471000	0.05019	AAC		0.338	LRGUK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339442.1	NM_144648		5	103	1	0	0.000602214	0.184627	0.000663309	5	103					A	133827909	C	A	133827909	3	1	78	1	0	0	0	0	1	0	0	0	8943	506	18	5	596	5	LRGUK	7	133827909	Missense_Mutation	SNP	C	TCGA-EJ-7115-01A-11D-2114-08	115912618	133827909	25310754	26	4086											
BLK	640	broad.mit.edu	37	chr8	11421593	11421607	+	In_Frame_Del	DEL	GCGGCAGTACGAGCT	GCGGCAGTACGAGCT	-																															gacttctacacggccaccgaGcggcagtacgagctgcagcc																										TCGA-EJ-7115-01A-11D-2114-08	TCGA-EJ-7115-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67324969-d5d7-4ae7-b8f7-26b11d6c0439	6ee4d1f0-da1d-4650-9d06-7f1bc0b11407	g.chr8:11421593_11421607delGCGGCAGTACGAGCT	ENST00000259089.4	+	13	2086_2100	c.1494_1508delGCGGCAGTACGAGCT	c.(1492-1509)gagcggcagtacgagctg>gag	p.RQYEL499del	BLK_ENST00000529894.1_In_Frame_Del_p.RQYEL428del	NM_001715.2	NP_001706.2	P51451	BLK_HUMAN	BLK proto-oncogene, Src family tyrosine kinase	499					B cell receptor signaling pathway (GO:0050853)|intracellular signal transduction (GO:0035556)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of insulin secretion (GO:0032024)	plasma membrane (GO:0005886)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			endometrium(1)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(4)|stomach(1)	27			STAD - Stomach adenocarcinoma(15;0.00391)	COAD - Colon adenocarcinoma(149;0.207)		CGGCCACCGAGCGGCAGTACGAGCTGCAGCCCTAG	0.735																																						ENST00000259089.4																			0				endometrium(1)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(4)|stomach(1)	27						c.(1492-1509)gag>ga		B lymphoid tyrosine kinase																																				SO:0001651	inframe_deletion	640				intracellular protein kinase cascade|positive regulation of insulin secretion		ATP binding|non-membrane spanning protein tyrosine kinase activity	g.chr8:11421593_11421607delGCGGCAGTACGAGCT	BC004473	CCDS5982.1	8p23-p22	2014-06-25	2014-06-25		ENSG00000136573	ENSG00000136573		"SH2 domain containing"	1057	protein-coding gene	gene with protein product		191305	"B lymphoid tyrosine kinase"			7845672	Standard	NM_001715		Approved	MGC10442	uc003wty.3	P51451	OTTHUMG00000090729	ENST00000259089.4:c.1494_1508delGCGGCAGTACGAGCT	8.37:g.11421593_11421607delGCGGCAGTACGAGCT	ENSP00000259089:p.Arg499_Leu503del					BLK_ENST00000529894.1_In_Frame_Del_p.ERQYEL427del	p.ERQYEL498del	NM_001715.2	NP_001706.2	P51451	BLK_HUMAN	STAD - Stomach adenocarcinoma(15;0.00391)	COAD - Colon adenocarcinoma(149;0.207)	13	2086_2100	+			498					Q16291|Q96IN1	In_Frame_Del	DEL	ENST00000259089.4	37	c.1494_1508delGCGGCAGTACGAGCT	CCDS5982.1																																																																																				0.735	BLK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207460.1			4	9						4	9	---	---	---	---	-	11421607	GCGGCAGTACGAGCT	-	11421593	7	5	78	1	0	1	0	1	0	0	0	0	1444	962	34	0	1540	0	BLK	8	11421593	In_Frame_Del	DEL	GCGGCAGTACGAGCT	TCGA-EJ-7115-01A-11D-2114-08		11421593	134942429	27	4087											
SPAG1	6674	broad.mit.edu	37	chr8	101206436	101206436	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tggttattcaggaaatagaaAactccgaagatgaagaagga	18	8	11	4	1	1	4	1	1	0	3	2	7	2	6	1	3	1	1	1	3	8	3			TCGA-EJ-7115-01A-11D-2114-08	TCGA-EJ-7115-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67324969-d5d7-4ae7-b8f7-26b11d6c0439	6ee4d1f0-da1d-4650-9d06-7f1bc0b11407	g.chr8:101206436A>T	ENST00000388798.2	+	10	1227	c.1036A>T	c.(1036-1038)Aac>Tac	p.N346Y	SPAG1_ENST00000520643.1_Missense_Mutation_p.N346Y|SPAG1_ENST00000520508.1_Missense_Mutation_p.N346Y|SPAG1_ENST00000251809.3_Missense_Mutation_p.N346Y	NM_003114.4	NP_003105.2	Q07617	SPAG1_HUMAN	sperm associated antigen 1	346					axonemal dynein complex assembly (GO:0070286)|single fertilization (GO:0007338)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)	GTP binding (GO:0005525)|hydrolase activity (GO:0016787)			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	30	all_cancers(14;2.35e-05)|all_epithelial(15;5.2e-08)|Lung NSC(17;0.000283)|all_lung(17;0.000823)	Breast(495;0.195)	Epithelial(11;1.12e-09)|all cancers(13;1.26e-07)|OV - Ovarian serous cystadenocarcinoma(57;4.37e-05)|STAD - Stomach adenocarcinoma(118;0.0525)	KIRC - Kidney renal clear cell carcinoma(542;0.00178)|READ - Rectum adenocarcinoma(644;0.236)		GGAAATAGAAAACTCCGAAGA	0.373																																						ENST00000388798.2																			0				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	30						c.(1036-1038)Aac>Tac		sperm associated antigen 1							61	62	62					8																	101206436		2203	4300	6503	SO:0001583	missense	6674				single fertilization	cytoplasm	GTP binding|hydrolase activity	g.chr8:101206436A>T	AF311312	CCDS34930.1	8q22	2014-01-21			ENSG00000104450	ENSG00000104450		"Tetratricopeptide (TTC) repeat domain containing"	11212	protein-coding gene	gene with protein product		603395				16368546	Standard	NM_172218		Approved	SP75, FLJ32920, HSD-3.8, TPIS, CT140	uc003yjh.2	Q07617	OTTHUMG00000164706	ENST00000388798.2:c.1036A>T	8.37:g.101206436A>T	ENSP00000373450:p.Asn346Tyr					SPAG1_ENST00000520643.1_Missense_Mutation_p.N346Y|SPAG1_ENST00000520508.1_Missense_Mutation_p.N346Y|SPAG1_ENST00000251809.3_Missense_Mutation_p.N346Y	p.N346Y	NM_003114.4	NP_003105.2	Q07617	SPAG1_HUMAN	Epithelial(11;1.12e-09)|all cancers(13;1.26e-07)|OV - Ovarian serous cystadenocarcinoma(57;4.37e-05)|STAD - Stomach adenocarcinoma(118;0.0525)	KIRC - Kidney renal clear cell carcinoma(542;0.00178)|READ - Rectum adenocarcinoma(644;0.236)	10	1227	+	all_cancers(14;2.35e-05)|all_epithelial(15;5.2e-08)|Lung NSC(17;0.000283)|all_lung(17;0.000823)	Breast(495;0.195)	346					A6NP70|B3KQ58|G3XAM3|Q7Z5G1	Missense_Mutation	SNP	ENST00000388798.2	37	c.1036A>T	CCDS34930.1	.	.	.	.	.	.	.	.	.	.	A	17.44	3.390963	0.62066	.	.	ENSG00000104450	ENST00000520643;ENST00000251809;ENST00000520508;ENST00000388798	T;T;T;T	0.62105	2.89;0.05;2.89;0.05	5.39	1.65	0.23941	.	0.304354	0.32518	N	0.005997	T	0.60366	0.2263	L	0.52573	1.65	0.29673	N	0.842341	D;D	0.61080	0.981;0.989	P;P	0.55112	0.635;0.769	T	0.58126	-0.7691	10	0.62326	D	0.03	-7.9385	2.9705	0.05922	0.4557:0.2367:0.3076:0.0	.	346;346	Q07617;G3XAM3	SPAG1_HUMAN;.	Y	346	ENSP00000427716:N346Y;ENSP00000251809:N346Y;ENSP00000428070:N346Y;ENSP00000373450:N346Y	ENSP00000251809:N346Y	N	+	1	0	SPAG1	101275612	1.000000	0.71417	0.999000	0.59377	0.770000	0.43624	1.232000	0.32636	0.345000	0.23873	0.397000	0.26171	AAC		0.373	SPAG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379853.2	NM_172218		9	20	0	0	0	0.335167	0	9	20					T	101206436	A	T	101206436	3	4	78	1	0	0	0	0	1	0	0	0	14975	14	1	5	1070	5	SPAG1	8	101206436	Missense_Mutation	SNP	A	TCGA-EJ-7115-01A-11D-2114-08	89784843	101206436	45157586	28	4088											
HSF1	3297	broad.mit.edu	37	chr8	145535738	145535738	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaggaggcgagtcccgggcGcccatcttccgtggacaccc	7	5	14	15	4	1	1	0	0	1	1	3	4	3	3	4	4	0	0	4	4	0	1	rs369608182		TCGA-EJ-7115-01A-11D-2114-08	TCGA-EJ-7115-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67324969-d5d7-4ae7-b8f7-26b11d6c0439	6ee4d1f0-da1d-4650-9d06-7f1bc0b11407	g.chr8:145535738G>A	ENST00000528838.1	+	9	1110	c.950G>A	c.(949-951)cGc>cAc	p.R317H	GS1-393G12.12_ENST00000525023.1_RNA|HSF1_ENST00000400780.4_Missense_Mutation_p.R252H	NM_005526.2	NP_005517.1	Q00613	HSF1_HUMAN	heat shock transcription factor 1	317					cellular response to heat (GO:0034605)|defense response (GO:0006952)|embryonic placenta development (GO:0001892)|embryonic process involved in female pregnancy (GO:0060136)|female meiotic division (GO:0007143)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of tumor necrosis factor production (GO:0032720)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of spindle checkpoint (GO:0090231)|response to lipopolysaccharide (GO:0032496)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|pronucleus (GO:0045120)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II intronic transcription regulatory region sequence-specific DNA binding (GO:0001162)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|large_intestine(1)|lung(3)|prostate(3)|skin(1)|urinary_tract(2)	11	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.94e-40)|Epithelial(56;1.12e-39)|all cancers(56;9.11e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0547)|Colorectal(110;0.055)			AGTCCCGGGCGCCCATCTTCC	0.697																																						ENST00000528838.1																			0				endometrium(1)|large_intestine(1)|lung(3)|prostate(3)|skin(1)|urinary_tract(2)	11						c.(949-951)cGc>cAc		heat shock transcription factor 1			HIS/ARG	0,4402		0,0,2201	24	24	24		950	-5.9	0	8		24	1,8595		0,1,4297	no	missense	HSF1	NM_005526.2	29	0,1,6498	AA,AG,GG		0.0116,0.0,0.0077	benign	317/530	145535738	1,12997	2201	4298	6499	SO:0001583	missense	3297					cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity	g.chr8:145535738G>A	M64673	CCDS6419.1	8q24.3	2014-04-10			ENSG00000185122	ENSG00000185122			5224	protein-coding gene	gene with protein product		140580				1871105	Standard	NM_005526		Approved	HSTF1	uc003zbt.4	Q00613	OTTHUMG00000174604	ENST00000528838.1:c.950G>A	8.37:g.145535738G>A	ENSP00000431512:p.Arg317His					HSF1_ENST00000400780.4_Missense_Mutation_p.R252H	p.R317H	NM_005526.2	NP_005517.1	Q00613	HSF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;3.94e-40)|Epithelial(56;1.12e-39)|all cancers(56;9.11e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0547)|Colorectal(110;0.055)		9	1110	+	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		317					A8K4L0|A8MW26|Q53XT4	Missense_Mutation	SNP	ENST00000528838.1	37	c.950G>A	CCDS6419.1	.	.	.	.	.	.	.	.	.	.	g	3.333	-0.136325	0.06711	0.0	1.16E-4	ENSG00000185122	ENST00000528838;ENST00000400780	.	.	.	5.54	-5.87	0.02297	Vertebrate heat shock transcription factor (1);	0.889821	0.09852	N	0.747406	T	0.18045	0.0433	N	0.04043	-0.29	0.09310	N	1	B	0.11235	0.004	B	0.04013	0.001	T	0.21109	-1.0255	9	0.37606	T	0.19	-12.7286	10.7456	0.46179	0.3011:0.1224:0.5765:0.0	.	317	Q00613	HSF1_HUMAN	H	317;252	.	ENSP00000383590:R252H	R	+	2	0	HSF1	145506546	0.000000	0.05858	0.000000	0.03702	0.132000	0.20833	-0.094000	0.11094	-1.298000	0.02348	-1.086000	0.02197	CGC		0.697	HSF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382053.1	NM_005526		14	35	0	0	0	0.457914	0	14	35					A	145535738	G	A	145535738	3	1	78	1	0	0	0	0	1	0	0	0	7395	1087	38	1	984	1	HSF1	8	145535738	Missense_Mutation	SNP	G	TCGA-EJ-7115-01A-11D-2114-08	44329302	145535738	828284	29	4089											
SCUBE2	57758	broad.mit.edu	37	chr11	9069059	9069059	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tctgagcgtgcggatggcttTacggagccgcttctcggttc	4	12	14	11	5	2	1	0	1	2	0	4	3	2	3	1	4	4	3	1	4	1	4			TCGA-EJ-7115-01A-11D-2114-08	TCGA-EJ-7115-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67324969-d5d7-4ae7-b8f7-26b11d6c0439	6ee4d1f0-da1d-4650-9d06-7f1bc0b11407	g.chr11:9069059T>C	ENST00000309263.3	-	15	1831	c.1759A>G	c.(1759-1761)Aaa>Gaa	p.K587E	SCUBE2_ENST00000450649.2_Missense_Mutation_p.K461E|RP11-467K18.2_ENST00000531592.1_RNA|SCUBE2_ENST00000520467.1_Missense_Mutation_p.K616E|SCUBE2_ENST00000457346.2_Missense_Mutation_p.K616E			Q9NQ36	SCUB2_HUMAN	signal peptide, CUB domain, EGF-like 2	587						extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			breast(1)|endometrium(5)|kidney(3)|large_intestine(15)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	42				all cancers(16;8.57e-09)|Epithelial(150;4.42e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0116)		CGGATGGCTTTACGGAGCCGC	0.567																																						ENST00000457346.2																			0				breast(1)|endometrium(5)|kidney(3)|large_intestine(15)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	42						c.(1846-1848)Aaa>Gaa		signal peptide, CUB domain, EGF-like 2							83	69	74					11																	9069059		2201	4296	6497	SO:0001583	missense	57758					extracellular region	calcium ion binding	g.chr11:9069059T>C	AK131552	CCDS7797.1, CCDS7797.2, CCDS53599.1	11p15.4	2014-09-04			ENSG00000175356	ENSG00000175356			30425	protein-coding gene	gene with protein product		611747				12270931, 11528127	Standard	NM_020974		Approved	Cegf1, Cegb1, FLJ16792	uc001mhi.2	Q9NQ36	OTTHUMG00000163880	ENST00000309263.3:c.1759A>G	11.37:g.9069059T>C	ENSP00000310658:p.Lys587Glu					SCUBE2_ENST00000309263.3_Missense_Mutation_p.K587E|SCUBE2_ENST00000520467.1_Missense_Mutation_p.K616E|SCUBE2_ENST00000450649.2_Missense_Mutation_p.K461E|RP11-467K18.2_ENST00000531592.1_RNA	p.K616E			Q9NQ36	SCUB2_HUMAN		all cancers(16;8.57e-09)|Epithelial(150;4.42e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0116)	16	1920	-			587					Q2NKQ8|Q6ZWI1	Missense_Mutation	SNP	ENST00000309263.3	37	c.1846A>G		.	.	.	.	.	.	.	.	.	.	T	18.49	3.635116	0.67130	.	.	ENSG00000175356	ENST00000457346;ENST00000309263;ENST00000450649;ENST00000520467	T;T;D;T	0.84223	-1.23;-1.34;-1.82;-1.42	5.21	5.21	0.72293	.	0.000000	0.85682	D	0.000000	D	0.90428	0.7003	M	0.66939	2.045	0.80722	D	1	D;B;B	0.71674	0.998;0.12;0.286	D;B;B	0.80764	0.994;0.199;0.141	D	0.88234	0.2905	10	0.20519	T	0.43	.	15.3885	0.74723	0.0:0.0:0.0:1.0	.	461;616;587	Q9NQ36-3;Q9NQ36-2;Q9NQ36	.;.;SCUB2_HUMAN	E	616;587;461;616	ENSP00000390481:K616E;ENSP00000310658:K587E;ENSP00000415187:K461E;ENSP00000429969:K616E	ENSP00000310658:K587E	K	-	1	0	SCUBE2	9025635	1.000000	0.71417	0.998000	0.56505	0.924000	0.55760	7.840000	0.86819	2.105000	0.64084	0.533000	0.62120	AAA		0.567	SCUBE2-005	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000385812.2	NM_020974		15	62	0	0	0	0.457914	0	15	62					C	9069059	T	C	9069059	3	2	78	1	0	0	0	0	1	0	0	0	13945	1763	61	4	1272	4	SCUBE2	11	9069059	Missense_Mutation	SNP	T	TCGA-EJ-7115-01A-11D-2114-08		9069059	125937457	30	4090											
MRGPRX2	117194	broad.mit.edu	37	chr11	19077545	19077545	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gggcggcggcagcgataccaGatgggccacaggacggacag	10	2	18	11	4	0	1	0	0	0	1	0	4	0	3	2	6	2	1	2	6	1	1			TCGA-EJ-7115-01A-11D-2114-08	TCGA-EJ-7115-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67324969-d5d7-4ae7-b8f7-26b11d6c0439	6ee4d1f0-da1d-4650-9d06-7f1bc0b11407	g.chr11:19077545G>C	ENST00000329773.2	-	2	492	c.405C>G	c.(403-405)atC>atG	p.I135M		NM_054030.2	NP_473371.1	Q96LB1	MRGX2_HUMAN	MAS-related GPR, member X2	135					positive regulation of cytokinesis (GO:0032467)|sensory perception of pain (GO:0019233)|sleep (GO:0030431)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|neuropeptide binding (GO:0042923)			NS(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	15						AGCGATACCAGATGGGCCACA	0.617																																					GBM(198;1966 2199 4849 37227 49954)	ENST00000329773.2																			0				NS(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	15						c.(403-405)atC>atG		MAS-related GPR, member X2							69	66	67					11																	19077545		2199	4293	6492	SO:0001583	missense	117194				sensory perception of pain|sleep	plasma membrane	G-protein coupled receptor activity|neuropeptide binding	g.chr11:19077545G>C		CCDS7847.1	11p15.1	2013-10-10			ENSG00000183695	ENSG00000183695		"GPCR / Class A : Orphans"	17983	protein-coding gene	gene with protein product		607228				11551509	Standard	NM_054030		Approved	MRGX2	uc001mph.3	Q96LB1	OTTHUMG00000166098	ENST00000329773.2:c.405C>G	11.37:g.19077545G>C	ENSP00000333800:p.Ile135Met						p.I135M	NM_054030.2	NP_473371.1	Q96LB1	MRGX2_HUMAN			2	492	-			135					B5B0C7|Q4QXW4|Q4QXW7|Q4QXX0|Q4QXX2|Q4QXX3|Q4QXX4|Q4QXX6|Q4QXX7	Missense_Mutation	SNP	ENST00000329773.2	37	c.405C>G	CCDS7847.1	.	.	.	.	.	.	.	.	.	.	.	17.94	3.510886	0.64522	.	.	ENSG00000183695	ENST00000329773	T	0.37058	1.22	5.11	2.17	0.27698	GPCR, rhodopsin-like superfamily (1);	0.270264	0.32258	N	0.006348	T	0.46034	0.1372	M	0.69523	2.12	0.25384	N	0.988589	D	0.61697	0.99	P	0.60286	0.872	T	0.37641	-0.9697	10	0.62326	D	0.03	.	2.1159	0.03713	0.171:0.1554:0.5134:0.1602	.	135	Q96LB1	MRGX2_HUMAN	M	135	ENSP00000333800:I135M	ENSP00000333800:I135M	I	-	3	3	MRGPRX2	19034121	1.000000	0.71417	0.983000	0.44433	0.984000	0.73092	2.115000	0.41921	0.404000	0.25506	0.655000	0.94253	ATC		0.617	MRGPRX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387819.1	NM_054030		7	108	0	0	0	0.27861	0	7	108					C	19077545	G	C	19077545	3	2	78	1	0	0	0	0	1	0	0	0	9767	932	33	5	591	5	MRGPRX2	11	19077545	Missense_Mutation	SNP	G	TCGA-EJ-7115-01A-11D-2114-08	10008486	19077545	115928971	31	4091											
ALX4	60529	broad.mit.edu	37	chr11	44289106	44289106	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgcagtggagaagtgggttcGaacctgctgcatctgcccaa	9	9	13	10	1	1	1	0	0	1	1	2	3	1	1	2	2	5	4	2	2	3	1			TCGA-EJ-7115-01A-11D-2114-08	TCGA-EJ-7115-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67324969-d5d7-4ae7-b8f7-26b11d6c0439	6ee4d1f0-da1d-4650-9d06-7f1bc0b11407	g.chr11:44289106G>A	ENST00000329255.3	-	3	947	c.844C>T	c.(844-846)Cga>Tga	p.R282*		NM_021926.3	NP_068745.2	Q9H161	ALX4_HUMAN	ALX homeobox 4	282					anterior/posterior pattern specification (GO:0009952)|digestive tract development (GO:0048565)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic skeletal system morphogenesis (GO:0048704)|hair follicle development (GO:0001942)|muscle organ development (GO:0007517)|palate development (GO:0060021)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic development (GO:0009791)|regulation of apoptotic process (GO:0042981)|skeletal system development (GO:0001501)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	16						AAGTGGGTTCGAACCTGCTGC	0.602																																						ENST00000329255.3																			0				central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	16						c.(844-846)Cga>Tga		ALX homeobox 4							182	144	157					11																	44289106		2203	4299	6502	SO:0001587	stop_gained	60529				hair follicle development			g.chr11:44289106G>A	AF294629	CCDS31468.1	11p11.2	2011-06-20	2008-11-04		ENSG00000052850	ENSG00000052850		"Homeoboxes / PRD class"	450	protein-coding gene	gene with protein product		605420	"parietal foramina 2", "aristaless-like homeobox 4"	PFM2		11017806, 8644736	Standard	NM_021926		Approved	FPP, PFM, KIAA1788	uc001myb.3	Q9H161	OTTHUMG00000166557	ENST00000329255.3:c.844C>T	11.37:g.44289106G>A	ENSP00000332744:p.Arg282*						p.R282*	NM_021926.3	NP_068745.2	Q9H161	ALX4_HUMAN			3	947	-			282					Q96JN7|Q9H198|Q9HAY9	Nonsense_Mutation	SNP	ENST00000329255.3	37	c.844C>T	CCDS31468.1	.	.	.	.	.	.	.	.	.	.	G	38	6.655316	0.97739	.	.	ENSG00000052850	ENST00000329255	.	.	.	4.88	4.88	0.63580	.	0.130922	0.52532	D	0.000079	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	18.578	0.91162	0.0:0.0:1.0:0.0	.	.	.	.	X	282	.	ENSP00000332744:R282X	R	-	1	2	ALX4	44245682	1.000000	0.71417	0.560000	0.28344	0.991000	0.79684	6.301000	0.72782	2.700000	0.92200	0.462000	0.41574	CGA		0.602	ALX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390399.1			33	87	0	0	0	0.760397	0	33	87					A	44289106	G	A	44289106	4	1	78	1	0	0	0	0	0	1	0	0	558	1066	37	2	399	2	ALX4	11	44289106	Nonsense_Mutation	SNP	G	TCGA-EJ-7115-01A-11D-2114-08	25211561	44289106	90717410	32	4092											
DGKZ	8525	broad.mit.edu	37	chr11	46396525	46396525	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggggccaccctggggagcAccacgactttgagccccagc	7	5	13	16	1	0	1	0	1	0	0	0	3	0	2	5	4	3	1	5	4	0	1			TCGA-EJ-7115-01A-11D-2114-08	TCGA-EJ-7115-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67324969-d5d7-4ae7-b8f7-26b11d6c0439	6ee4d1f0-da1d-4650-9d06-7f1bc0b11407	g.chr11:46396525A>G	ENST00000454345.1	+	20	2329	c.2204A>G	c.(2203-2205)cAc>cGc	p.H735R	DGKZ_ENST00000421244.2_Missense_Mutation_p.H547R|DGKZ_ENST00000532868.2_Missense_Mutation_p.H551R|DGKZ_ENST00000543978.1_Intron|DGKZ_ENST00000528615.1_Missense_Mutation_p.H325R|DGKZ_ENST00000318201.8_Missense_Mutation_p.H524R|DGKZ_ENST00000395574.3_Missense_Mutation_p.H513R|DGKZ_ENST00000527911.1_Missense_Mutation_p.H547R|DGKZ_ENST00000343674.6_Missense_Mutation_p.H563R|DGKZ_ENST00000456247.2_Missense_Mutation_p.H546R|MIR4688_ENST00000577966.1_RNA	NM_001105540.1	NP_001099010.1	Q13574	DGKZ_HUMAN	diacylglycerol kinase, zeta	735					blood coagulation (GO:0007596)|cell migration (GO:0016477)|intracellular signal transduction (GO:0035556)|lipid phosphorylation (GO:0046834)|mitotic G1 DNA damage checkpoint (GO:0031571)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of Ras protein signal transduction (GO:0046580)|phosphorylation (GO:0016310)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)	cytoplasm (GO:0005737)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|enzyme inhibitor activity (GO:0004857)|lipid kinase activity (GO:0001727)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)|protein C-terminus binding (GO:0008022)			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|pancreas(1)|prostate(1)|skin(1)	25				GBM - Glioblastoma multiforme(35;0.0259)|Lung(87;0.141)		CCTGGGGAGCACCACGACTTT	0.637																																						ENST00000454345.1																			0				central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|pancreas(1)|prostate(1)|skin(1)	25						c.(2203-2205)cAc>cGc		diacylglycerol kinase, zeta							51	49	50					11																	46396525		2202	4299	6501	SO:0001583	missense	8525				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell migration|intracellular signal transduction|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of mitotic cell cycle|platelet activation	cytoplasm|lamellipodium|nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|lipid kinase activity|metal ion binding|protein binding|protein C-terminus binding	g.chr11:46396525A>G	U51477	CCDS7918.1, CCDS41640.1, CCDS44579.1, CCDS44580.1, CCDS55757.1, CCDS55758.1, CCDS55759.1, CCDS44579.2	11p11.2	2010-11-24	2010-11-24		ENSG00000149091	ENSG00000149091	2.7.1.107		2857	protein-coding gene	gene with protein product		601441	"diacylglycerol kinase, zeta 104kDa"			8626588	Standard	NM_003646		Approved	DAGK5, hDGKzeta, DGK-ZETA, DAGK6	uc001ncn.1	Q13574	OTTHUMG00000166437	ENST00000454345.1:c.2204A>G	11.37:g.46396525A>G	ENSP00000412178:p.His735Arg					DGKZ_ENST00000543978.1_Intron|DGKZ_ENST00000532868.2_Missense_Mutation_p.H551R|DGKZ_ENST00000318201.8_Missense_Mutation_p.H524R|DGKZ_ENST00000528615.1_Missense_Mutation_p.H325R|DGKZ_ENST00000343674.6_Missense_Mutation_p.H563R|DGKZ_ENST00000527911.1_Missense_Mutation_p.H547R|DGKZ_ENST00000456247.2_Missense_Mutation_p.H546R|DGKZ_ENST00000421244.2_Missense_Mutation_p.H547R|DGKZ_ENST00000395574.3_Missense_Mutation_p.H513R	p.H735R	NM_001105540.1	NP_001099010.1	Q13574	DGKZ_HUMAN		GBM - Glioblastoma multiforme(35;0.0259)|Lung(87;0.141)	20	2329	+			735					B7Z2M9|B7Z6M3|E9PPW4|F6UCU9|G3V0F6|J3KNJ6|O00542|Q6ZVG7|Q8IVW9	Missense_Mutation	SNP	ENST00000454345.1	37	c.2204A>G	CCDS41640.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	16.73|16.73	3.204744|3.204744	0.58234|0.58234	.|.	.|.	ENSG00000149091|ENSG00000149091	ENST00000343674;ENST00000528615;ENST00000395574;ENST00000532868;ENST00000527911;ENST00000456247;ENST00000421244;ENST00000318201;ENST00000454345|ENST00000524869	T;T;T;T;T;T;T;T;T|.	0.28255|.	1.62;1.62;1.62;1.62;1.62;1.62;1.62;1.62;1.62|.	4.62|4.62	4.62|4.62	0.57501|0.57501	Diacylglycerol kinase, accessory domain (2);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.52533|0.52533	0.1740|0.1740	L|L	0.28115|0.28115	0.83|0.83	0.80722|0.80722	D|D	1|1	B;B;B;B;B;B;B;B;B|.	0.23806|.	0.02;0.0;0.091;0.02;0.011;0.002;0.009;0.011;0.02|.	B;B;B;B;B;B;B;B;B|.	0.28991|.	0.033;0.008;0.097;0.022;0.021;0.008;0.013;0.022;0.022|.	T|T	0.49588|0.49588	-0.8924|-0.8924	10|5	0.25751|.	T|.	0.34|.	.|.	14.3245|14.3245	0.66509|0.66509	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	524;512;490;547;735;546;547;513;563|.	B7Z2M9;B7Z6M3;B7Z8F6;E9PPW4;Q13574;Q13574-2;G3V0F6;A8MVN1;Q6ZVG7|.	.;.;.;.;DGKZ_HUMAN;.;.;.;.|.	R|A	563;325;513;512;547;546;547;524;735|102	ENSP00000343065:H563R;ENSP00000434719:H325R;ENSP00000378941:H513R;ENSP00000436273:H512R;ENSP00000436291:H547R;ENSP00000395684:H546R;ENSP00000391021:H547R;ENSP00000320340:H524R;ENSP00000412178:H735R|.	ENSP00000320340:H524R|.	H|T	+|+	2|1	0|0	DGKZ|DGKZ	46353101|46353101	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.954000|0.954000	0.61252|0.61252	7.389000|7.389000	0.79806|0.79806	1.862000|1.862000	0.54008|0.54008	0.459000|0.459000	0.35465|0.35465	CAC|ACC		0.637	DGKZ-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000389772.1	NM_001105540		9	31	0	0	0	0.335167	0	9	31					G	46396525	A	G	46396525	3	3	78	1	0	0	0	0	1	0	0	0	4474	159	6	4	2725	4	DGKZ	11	46396525	Missense_Mutation	SNP	A	TCGA-EJ-7115-01A-11D-2114-08	2107419	46396525	88609991	33	4093											
RPS6KA4	8986	broad.mit.edu	37	chr11	64137784	64137784	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgagatcatgtgcaaaatcCgcgaggggcgcttctccctt	8	9	11	13	4	2	1	1	0	1	1	4	3	3	1	3	2	1	2	3	2	2	2			TCGA-EJ-7115-01A-11D-2114-08	TCGA-EJ-7115-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67324969-d5d7-4ae7-b8f7-26b11d6c0439	6ee4d1f0-da1d-4650-9d06-7f1bc0b11407	g.chr11:64137784C>T	ENST00000334205.4	+	15	1950	c.1885C>T	c.(1885-1887)Cgc>Tgc	p.R629C	RPS6KA4_ENST00000294261.4_Missense_Mutation_p.R381C|RPS6KA4_ENST00000528057.1_Missense_Mutation_p.R622C|MIR1237_ENST00000408346.1_RNA	NM_003942.2	NP_003933.1	O75676	KS6A4_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 4	629	Protein kinase 2. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|histone H3-S10 phosphorylation (GO:0043987)|histone H3-S28 phosphorylation (GO:0043988)|histone phosphorylation (GO:0016572)|inflammatory response (GO:0006954)|interleukin-1-mediated signaling pathway (GO:0070498)|intracellular signal transduction (GO:0035556)|negative regulation of cytokine production (GO:0001818)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of histone acetylation (GO:0035066)|positive regulation of histone phosphorylation (GO:0033129)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|mitogen-activated protein kinase p38 binding (GO:0048273)|protein serine/threonine kinase activity (GO:0004674)|ribosomal protein S6 kinase activity (GO:0004711)			breast(1)|endometrium(3)|lung(7)|ovary(1)|prostate(1)	13						GTGCAAAATCCGCGAGGGGCG	0.657																																						ENST00000528057.1																			0				breast(1)|endometrium(3)|lung(7)|ovary(1)|prostate(1)	13						c.(1864-1866)Cgc>Tgc		ribosomal protein S6 kinase, 90kDa, polypeptide 4							46	55	52					11																	64137784		2201	4295	6496	SO:0001583	missense	8986				axon guidance|histone phosphorylation|interleukin-1-mediated signaling pathway|intracellular protein kinase cascade|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	ATP binding|magnesium ion binding|mitogen-activated protein kinase p38 binding|ribosomal protein S6 kinase activity	g.chr11:64137784C>T	AJ010119	CCDS8073.1, CCDS73313.1	11q11-q13	2011-04-05	2002-08-29		ENSG00000162302	ENSG00000162302			10433	protein-coding gene	gene with protein product		603606	"ribosomal protein S6 kinase, 90kD, polypeptide 4"			9792677, 9687510	Standard	XM_005274379		Approved	RSK-B, MSK2	uc001oae.3	O75676	OTTHUMG00000046094	ENST00000334205.4:c.1885C>T	11.37:g.64137784C>T	ENSP00000333896:p.Arg629Cys					RPS6KA4_ENST00000294261.4_Missense_Mutation_p.R381C|RPS6KA4_ENST00000334205.4_Missense_Mutation_p.R629C	p.R622C	NM_001006944.1	NP_001006945.1	O75676	KS6A4_HUMAN			15	1952	+			629			Protein kinase 2.		A8K7Z8|O75585|Q53ES8	Missense_Mutation	SNP	ENST00000334205.4	37	c.1864C>T	CCDS8073.1	.	.	.	.	.	.	.	.	.	.	c	18.06	3.539509	0.65085	.	.	ENSG00000162302	ENST00000528057;ENST00000334205;ENST00000294261;ENST00000530504	T;T;T;T	0.66460	-0.21;-0.21;1.05;-0.21	4.3	4.3	0.51218	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.067988	0.64402	D	0.000020	T	0.65668	0.2713	N	0.26130	0.795	0.35033	D	0.758964	D;D;B;D	0.76494	0.998;0.997;0.211;0.999	P;P;B;P	0.61275	0.649;0.828;0.117;0.886	T	0.71912	-0.4449	10	0.38643	T	0.18	.	9.6433	0.39853	0.2088:0.7912:0.0:0.0	.	381;622;629;623	G3XAA9;E9PJN1;O75676;O75676-2	.;.;KS6A4_HUMAN;.	C	622;629;381;607	ENSP00000435580:R622C;ENSP00000333896:R629C;ENSP00000294261:R381C;ENSP00000432945:R607C	ENSP00000294261:R381C	R	+	1	0	RPS6KA4	63894360	1.000000	0.71417	1.000000	0.80357	0.933000	0.57130	3.275000	0.51639	1.943000	0.56356	0.484000	0.47621	CGC		0.657	RPS6KA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106246.2	NM_003942		15	118	0	0	0	0.479597	0	15	118					T	64137784	C	T	64137784	3	4	78	1	0	0	0	0	1	0	0	0	13653	652	23	2	1943	2	RPS6KA4	11	64137784	Missense_Mutation	SNP	C	TCGA-EJ-7115-01A-11D-2114-08	17741259	64137784	70868732	34	4094											
SIPA1	6494	broad.mit.edu	37	chr11	65410052	65410052	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgagccccagctgcctgcGcctgggctcagcttcaccca	5	7	11	18	1	2	1	2	1	0	0	2	1	2	1	5	1	5	4	5	1	0	1			TCGA-EJ-7115-01A-11D-2114-08	TCGA-EJ-7115-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67324969-d5d7-4ae7-b8f7-26b11d6c0439	6ee4d1f0-da1d-4650-9d06-7f1bc0b11407	g.chr11:65410052G>A	ENST00000394224.3	+	4	1222	c.926G>A	c.(925-927)cGc>cAc	p.R309H	SIPA1_ENST00000394227.3_Missense_Mutation_p.R309H|SIPA1_ENST00000534313.1_Missense_Mutation_p.R309H|SIPA1_ENST00000527525.1_Missense_Mutation_p.R309H	NM_153253.29	NP_694985.29	Q96FS4	SIPA1_HUMAN	signal-induced proliferation-associated 1	309					cell proliferation (GO:0008283)|cellular response to water deprivation (GO:0042631)|cytoskeleton organization (GO:0007010)|intracellular signal transduction (GO:0035556)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell growth (GO:0030308)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Rap GTPase activity (GO:0032854)|signal transduction (GO:0007165)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|protein complex (GO:0043234)|transport vesicle (GO:0030133)	GTPase activator activity (GO:0005096)|Rap GTPase activator activity (GO:0046582)			cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	10						AGCTGCCTGCGCCTGGGCTCA	0.697																																						ENST00000394224.3																			0				cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	10						c.(925-927)cGc>cAc		signal-induced proliferation-associated 1							9	11	11					11																	65410052		2188	4266	6454	SO:0001583	missense	6494				cell proliferation|cytoskeleton organization|intracellular signal transduction|negative regulation of cell adhesion|negative regulation of cell cycle|negative regulation of cell growth	cytosol|endomembrane system|membrane|perinuclear region of cytoplasm	Rap GTPase activator activity	g.chr11:65410052G>A	AH006363, BC010492, BM677738	CCDS8108.1	11q13.3	2008-09-12	2008-09-12		ENSG00000213445	ENSG00000213445			10885	protein-coding gene	gene with protein product		602180				9027487	Standard	NM_006747		Approved	SPA1	uc001ofb.2	Q96FS4	OTTHUMG00000166541	ENST00000394224.3:c.926G>A	11.37:g.65410052G>A	ENSP00000377771:p.Arg309His					SIPA1_ENST00000527525.1_Missense_Mutation_p.R309H|SIPA1_ENST00000534313.1_Missense_Mutation_p.R309H|SIPA1_ENST00000394227.3_Missense_Mutation_p.R309H	p.R309H	NM_153253.29	NP_694985.29	Q96FS4	SIPA1_HUMAN			4	1222	+			309					O14518|O60484|O60618|Q2YD83	Missense_Mutation	SNP	ENST00000394224.3	37	c.926G>A	CCDS8108.1	.	.	.	.	.	.	.	.	.	.	G	33	5.274259	0.95459	.	.	ENSG00000213445	ENST00000534313;ENST00000527525;ENST00000394224;ENST00000394227	D;D;D;D	0.94000	-3.33;-3.33;-3.33;-3.33	4.16	4.16	0.48862	.	0.230982	0.26286	U	0.025252	D	0.97244	0.9099	M	0.92077	3.27	0.53688	D	0.999978	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.996	D	0.97999	1.0359	10	0.87932	D	0	-22.21	14.3441	0.66649	0.0:0.0:1.0:0.0	.	309;309	F6RY50;Q96FS4	.;SIPA1_HUMAN	H	309	ENSP00000436269:R309H;ENSP00000433686:R309H;ENSP00000377771:R309H;ENSP00000377774:R309H	ENSP00000377771:R309H	R	+	2	0	SIPA1	65166628	1.000000	0.71417	1.000000	0.80357	0.843000	0.47879	9.441000	0.97557	2.323000	0.78572	0.455000	0.32223	CGC		0.697	SIPA1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390356.1	NM_006747		4	17	0	0	0	0.150653	0	4	17					A	65410052	G	A	65410052	3	1	78	1	0	0	0	0	1	0	0	0	14328	1087	38	1	936	1	SIPA1	11	65410052	Missense_Mutation	SNP	G	TCGA-EJ-7115-01A-11D-2114-08	1272268	65410052	69596464	35	4095											
PTPRO	5800	broad.mit.edu	37	chr12	15710429	15710429	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgtcaattttgcatccttaGagagggatggaaagcttcca	11	13	10	7	0	1	1	1	0	0	1	3	4	3	3	2	2	2	2	2	2	3	5			TCGA-EJ-7115-01A-11D-2114-08	TCGA-EJ-7115-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67324969-d5d7-4ae7-b8f7-26b11d6c0439	6ee4d1f0-da1d-4650-9d06-7f1bc0b11407	g.chr12:15710429G>T	ENST00000281171.4	+	16	2929	c.2599G>T	c.(2599-2601)Gag>Tag	p.E867*	PTPRO_ENST00000544244.1_Nonsense_Mutation_p.E56*|PTPRO_ENST00000445537.2_Nonsense_Mutation_p.E56*|PTPRO_ENST00000348962.2_Nonsense_Mutation_p.E867*|PTPRO_ENST00000542557.1_Nonsense_Mutation_p.E56*|PTPRO_ENST00000442921.2_Nonsense_Mutation_p.E56*	NM_030667.2	NP_109592.1	Q16827	PTPRO_HUMAN	protein tyrosine phosphatase, receptor type, O	867					axon guidance (GO:0007411)|cell morphogenesis (GO:0000902)|glomerular visceral epithelial cell differentiation (GO:0072112)|glomerulus development (GO:0032835)|lamellipodium assembly (GO:0030032)|monocyte chemotaxis (GO:0002548)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of glomerular filtration (GO:0003105)|negative regulation of neuron projection development (GO:0010977)|negative regulation of retinal ganglion cell axon guidance (GO:0090260)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of glomerular filtration (GO:0003093)|slit diaphragm assembly (GO:0036060)	apical plasma membrane (GO:0016324)|axon (GO:0030424)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	phosphatase activity (GO:0016791)|protein homodimerization activity (GO:0042803)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)|Wnt-protein binding (GO:0017147)			NS(2)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(11)|lung(30)|ovary(2)|prostate(1)|skin(17)|upper_aerodigestive_tract(1)	74		Hepatocellular(102;0.244)				TGCATCCTTAGAGAGGGATGG	0.398																																						ENST00000281171.4																			0				NS(2)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(11)|lung(30)|ovary(2)|prostate(1)|skin(17)|upper_aerodigestive_tract(1)	74						c.(2599-2601)Gag>Tag		protein tyrosine phosphatase, receptor type, O							210	198	202					12																	15710429		2203	4300	6503	SO:0001587	stop_gained	5800					integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr12:15710429G>T	U20489	CCDS8674.1, CCDS8675.1, CCDS44837.1, CCDS53754.1	12p13-p12	2013-02-11			ENSG00000151490	ENSG00000151490		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Fibronectin type III domain containing"	9678	protein-coding gene	gene with protein product	"osteoclastic transmembrane protein-tyrosine phosphatase"	600579				7519601, 7665166, 21722858	Standard	NM_030667		Approved	PTPU2, GLEPP1, PTP-U2, PTP-oc, NPHS6	uc001rcv.2	Q16827	OTTHUMG00000168786	ENST00000281171.4:c.2599G>T	12.37:g.15710429G>T	ENSP00000281171:p.Glu867*					PTPRO_ENST00000442921.2_Nonsense_Mutation_p.E56*|PTPRO_ENST00000542557.1_Nonsense_Mutation_p.E56*|PTPRO_ENST00000445537.2_Nonsense_Mutation_p.E56*|PTPRO_ENST00000544244.1_Nonsense_Mutation_p.E56*|PTPRO_ENST00000348962.2_Nonsense_Mutation_p.E867*	p.E867*	NM_030667.2	NP_109592.1	Q16827	PTPRO_HUMAN			16	2929	+		Hepatocellular(102;0.244)	867					A0AV39|Q13101|Q8IYG3|Q9UBF0|Q9UBT5	Nonsense_Mutation	SNP	ENST00000281171.4	37	c.2599G>T	CCDS8675.1	.	.	.	.	.	.	.	.	.	.	G	42	9.381745	0.99155	.	.	ENSG00000151490	ENST00000281171;ENST00000348962;ENST00000442921;ENST00000542557;ENST00000445537;ENST00000544244	.	.	.	4.75	4.75	0.60458	.	0.000000	0.49305	D	0.000150	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.11182	T	0.66	.	17.931	0.88998	0.0:0.0:1.0:0.0	.	.	.	.	X	867;867;56;56;56;56	.	ENSP00000281171:E867X	E	+	1	0	PTPRO	15601696	1.000000	0.71417	0.997000	0.53966	0.888000	0.51559	9.257000	0.95545	2.480000	0.83734	0.467000	0.42956	GAG		0.398	PTPRO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401079.1			21	49	1	0	4.96729e-08	0.575678	5.80791e-08	21	49					T	15710429	G	T	15710429	4	4	78	1	0	0	0	0	0	1	0	0	12809	943	33	5	2661	5	PTPRO	12	15710429	Nonsense_Mutation	SNP	G	TCGA-EJ-7115-01A-11D-2114-08		15710429	118141466	36	4096											
FRY	10129	broad.mit.edu	37	chr13	32761791	32761791	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttctggcttgtcaagatttaCgagtaagtataggcaaaaat	14	13	9	5	1	2	1	1	0	1	1	2	2	2	1	0	2	1	4	0	2	7	7			TCGA-EJ-7115-01A-11D-2114-08	TCGA-EJ-7115-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67324969-d5d7-4ae7-b8f7-26b11d6c0439	6ee4d1f0-da1d-4650-9d06-7f1bc0b11407	g.chr13:32761791C>T	ENST00000380250.3	+	28	4085	c.3589C>T	c.(3589-3591)Cga>Tga	p.R1197*		NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	1197						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		TCAAGATTTACGAGTAAGTAT	0.413																																						ENST00000380250.3																			0				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132						c.(3589-3591)Cga>Tga		furry homolog (Drosophila)							105	96	99					13																	32761791		1922	4138	6060	SO:0001587	stop_gained	10129				regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane		g.chr13:32761791C>T	AL049784	CCDS41875.1	13q13.1	2008-02-05	2005-11-24	2005-11-24	ENSG00000073910	ENSG00000073910			20367	protein-coding gene	gene with protein product		614818	"chromosome 13 open reading frame 14"	C13orf14		14702039, 8812419	Standard	NM_023037		Approved	bA37E23.1, 13CDNA73, CG003	uc001utx.3	Q5TBA9	OTTHUMG00000016696	ENST00000380250.3:c.3589C>T	13.37:g.32761791C>T	ENSP00000369600:p.Arg1197*						p.R1197*	NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)	28	4085	+		Lung SC(185;0.0271)	1197					Q9Y3N6	Nonsense_Mutation	SNP	ENST00000380250.3	37	c.3589C>T	CCDS41875.1	.	.	.	.	.	.	.	.	.	.	C	47	13.569909	0.99750	.	.	ENSG00000073910	ENST00000380250;ENST00000380257	.	.	.	5.91	4.15	0.48705	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.09338	T	0.73	.	14.0614	0.64802	0.3962:0.6038:0.0:0.0	.	.	.	.	X	1197;36	.	ENSP00000369600:R1197X	R	+	1	2	FRY	31659791	1.000000	0.71417	1.000000	0.80357	0.929000	0.56500	3.001000	0.49488	0.797000	0.33971	0.655000	0.94253	CGA		0.413	FRY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044405.1	NM_023037		20	27	0	0	0	0.575678	0	20	27					T	32761791	C	T	32761791	4	4	78	1	0	0	0	0	0	1	0	0	6063	528	19	1	3699	1	FRY	13	32761791	Nonsense_Mutation	SNP	C	TCGA-EJ-7115-01A-11D-2114-08		32761791	82408087	37	4097											
C13orf31	144811	broad.mit.edu	37	chr13	44464253	44464253	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaatatttttcctaaggatTcttctagaacagggaggaat	15	13	8	5	0	2	1	0	0	2	1	3	4	3	4	1	3	1	0	1	3	7	7			TCGA-EJ-7115-01A-11D-2114-08	TCGA-EJ-7115-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67324969-d5d7-4ae7-b8f7-26b11d6c0439	6ee4d1f0-da1d-4650-9d06-7f1bc0b11407	g.chr13:44464253T>C	ENST00000441843.1	+	6	1622	c.1137T>C	c.(1135-1137)atT>atC	p.I379I	LACC1_ENST00000325686.6_Silent_p.I379I	NM_001128303.1	NP_001121775.1	Q8IV20	LACC1_HUMAN	laccase (multicopper oxidoreductase) domain containing 1	379																	TCCTAAGGATTCTTCTAGAAC	0.373																																						ENST00000441843.1																			0											c.(1135-1137)atT>atC		laccase (multicopper oxidoreductase) domain containing 1							75	72	73					13																	44464253		2203	4300	6503	SO:0001819	synonymous_variant	144811							g.chr13:44464253T>C	AK096044	CCDS9391.1	13q14.11	2012-05-11	2011-08-09	2011-08-09	ENSG00000179630	ENSG00000179630			26789	protein-coding gene	gene with protein product		613409	"chromosome 13 open reading frame 31"	C13orf31		16740638, 22504414	Standard	NM_153218		Approved	FLJ38725	uc010acg.3	Q8IV20	OTTHUMG00000016826	ENST00000441843.1:c.1137T>C	13.37:g.44464253T>C						LACC1_ENST00000325686.6_Silent_p.I379I	p.I379I	NM_001128303.1	NP_001121775.1	Q8IV20	CM031_HUMAN			6	1622	+			379					A2A3Z6|Q8N8X5	Silent	SNP	ENST00000441843.1	37	c.1137T>C	CCDS9391.1																																																																																				0.373	LACC1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044726.3	NM_153218		6	65	0	0	0	0.248553	0	6	65					C	44464253	T	C	44464253	2	2	78	1	0	0	0	0	0	0	0	1	1726	1771	62	4		4	C13orf31	13	44464253	Silent	SNP	T	TCGA-EJ-7115-01A-11D-2114-08	11702462	44464253	70705625	38	4098											
LECT1	11061	broad.mit.edu	37	chr13	53286893	53286893	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagaaaataggaaggtcacCgcagagttctaacaccttag	15	7	9	10	1	2	2	1	0	1	2	2	3	2	3	3	2	1	2	3	2	6	4			TCGA-EJ-7115-01A-11D-2114-08	TCGA-EJ-7115-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67324969-d5d7-4ae7-b8f7-26b11d6c0439	6ee4d1f0-da1d-4650-9d06-7f1bc0b11407	g.chr13:53286893C>G	ENST00000377962.3	-	5	658	c.580G>C	c.(580-582)Ggt>Cgt	p.G194R	LECT1_ENST00000448904.2_Missense_Mutation_p.G194R			O75829	LECT1_HUMAN	leukocyte cell derived chemotaxin 1	194	BRICHOS. {ECO:0000255|PROSITE- ProRule:PRU00255}.				cartilage development (GO:0051216)|endothelial cell morphogenesis (GO:0001886)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030948)|proteoglycan metabolic process (GO:0006029)|skeletal system development (GO:0001501)	integral component of membrane (GO:0016021)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|urinary_tract(1)	15		Lung NSC(96;0.00212)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;3.38e-08)		GGAAGGTCACCGCAGAGTTCT	0.398																																						ENST00000448904.2																			0				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|urinary_tract(1)	15						c.(580-582)Ggt>Cgt		leukocyte cell derived chemotaxin 1							117	123	121					13																	53286893		2203	4300	6503	SO:0001583	missense	11061				cartilage development|proteoglycan metabolic process	endomembrane system|extracellular region|integral to membrane		g.chr13:53286893C>G	AB006000	CCDS9437.1, CCDS45051.1	13q14.3	2012-10-10			ENSG00000136110	ENSG00000136110		"BRICHOS domain containing"	17005	protein-coding gene	gene with protein product	"BRICHOS domain containing 3"	605147	"multiple myeloma tumor suppressor 1"	MYETS1		9731231, 10103018	Standard	XM_006719760		Approved	CHM-I, CHM1, chondromodulin, BRICD3	uc001vhf.2	O75829	OTTHUMG00000016980	ENST00000377962.3:c.580G>C	13.37:g.53286893C>G	ENSP00000367198:p.Gly194Arg					LECT1_ENST00000377962.3_Missense_Mutation_p.G194R	p.G194R	NM_001011705.1|NM_007015.2	NP_001011705.1|NP_008946.1	O75829	LECT1_HUMAN		GBM - Glioblastoma multiforme(99;3.38e-08)	5	690	-		Lung NSC(96;0.00212)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)	194			BRICHOS.		Q5TAM4|Q8TAY6|Q9UM18	Missense_Mutation	SNP	ENST00000377962.3	37	c.580G>C	CCDS9437.1	.	.	.	.	.	.	.	.	.	.	C	15.35	2.807761	0.50421	.	.	ENSG00000136110	ENST00000448904;ENST00000377962;ENST00000431550	T;T;T	0.79247	-1.25;-1.25;-1.25	5.18	5.18	0.71444	BRICHOS (2);	0.353337	0.33161	N	0.005208	T	0.81302	0.4794	L	0.43152	1.355	0.41589	D	0.98878	D;D;D	0.65815	0.995;0.968;0.975	P;P;P	0.61533	0.89;0.654;0.766	T	0.79787	-0.1656	10	0.33940	T	0.23	-20.3117	14.054	0.64756	0.0:0.9256:0.0:0.0744	.	230;194;194	Q5TAN5;O75829-2;O75829	.;.;LECT1_HUMAN	R	194;194;116	ENSP00000388576:G194R;ENSP00000367198:G194R;ENSP00000396035:G116R	ENSP00000367198:G194R	G	-	1	0	LECT1	52184894	0.199000	0.23386	0.865000	0.33974	0.715000	0.41141	3.625000	0.54238	2.407000	0.81776	0.650000	0.86243	GGT		0.398	LECT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045110.3			32	66	0	0	0	0.750413	0	32	66					G	53286893	C	G	53286893	3	3	78	1	0	0	0	0	1	0	0	0	8712	652	23	5	436	5	LECT1	13	53286893	Missense_Mutation	SNP	C	TCGA-EJ-7115-01A-11D-2114-08	8822640	53286893	61882985	39	4099											
MYH6	4624	broad.mit.edu	37	chr14	23866021	23866021	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tggccactgggttcaggatgCgatacctgaggagggaagtg	9	8	17	7	1	1	1	1	1	0	0	1	5	1	4	2	5	2	1	2	5	2	2			TCGA-EJ-7115-01A-11D-2114-08	TCGA-EJ-7115-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67324969-d5d7-4ae7-b8f7-26b11d6c0439	6ee4d1f0-da1d-4650-9d06-7f1bc0b11407	g.chr14:23866021C>T	ENST00000356287.3	-	18	2203	c.2174G>A	c.(2173-2175)cGc>cAc	p.R725H	MYH6_ENST00000405093.3_Missense_Mutation_p.R725H			P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	725	Myosin motor.				adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|atrial cardiac muscle tissue morphogenesis (GO:0055009)|BMP signaling pathway (GO:0030509)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle fiber development (GO:0048739)|in utero embryonic development (GO:0001701)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|myofibril assembly (GO:0030239)|regulation of ATPase activity (GO:0043462)|regulation of blood pressure (GO:0008217)|regulation of heart contraction (GO:0008016)|regulation of heart growth (GO:0060420)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|sarcomere organization (GO:0045214)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visceral muscle development (GO:0007522)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin complex (GO:0016459)|myosin filament (GO:0032982)|nucleus (GO:0005634)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|protein kinase binding (GO:0019901)			breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		GTTCAGGATGCGATACCTGAG	0.547																																						ENST00000405093.3																			0				breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119						c.(2173-2175)cGc>cAc		myosin, heavy chain 6, cardiac muscle, alpha							100	79	86					14																	23866021		2203	4300	6503	SO:0001583	missense	4624				adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle	g.chr14:23866021C>T	D00943	CCDS9600.1	14q11.2-q13	2014-09-17	2008-08-01		ENSG00000197616	ENSG00000197616		"Myosins / Myosin superfamily : Class II"	7576	protein-coding gene	gene with protein product	"cardiomyopathy, hypertrophic 1"	160710	"myosin, heavy polypeptide 6, cardiac muscle, alpha (cardiomyopathy, hypertrophic 1)"			2144212	Standard	NM_002471		Approved		uc001wjv.3	P13533	OTTHUMG00000028753	ENST00000356287.3:c.2174G>A	14.37:g.23866021C>T	ENSP00000348634:p.Arg725His					MYH6_ENST00000356287.3_Missense_Mutation_p.R725H	p.R725H	NM_002471.3	NP_002462.2	P13533	MYH6_HUMAN		GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)	19	2244	-	all_cancers(95;2.54e-05)		725			Myosin head-like.		A2RTX1|D9YZU2|Q13943|Q14906|Q14907	Missense_Mutation	SNP	ENST00000356287.3	37	c.2174G>A	CCDS9600.1	.	.	.	.	.	.	.	.	.	.	.	19.63	3.863617	0.71949	.	.	ENSG00000197616	ENST00000405093;ENST00000356287	D;D	0.87966	-2.32;-2.32	4.46	4.46	0.54185	Myosin head, motor domain (2);	.	.	.	.	D	0.92808	0.7713	M	0.81497	2.545	0.51012	D	0.999908	D	0.89917	1.0	D	0.77004	0.989	D	0.93259	0.6641	9	0.59425	D	0.04	.	13.0136	0.58745	0.0:0.9183:0.0:0.0817	.	725	P13533	MYH6_HUMAN	H	725	ENSP00000386041:R725H;ENSP00000348634:R725H	ENSP00000348634:R725H	R	-	2	0	MYH6	22935861	0.295000	0.24389	1.000000	0.80357	0.896000	0.52359	1.946000	0.40283	2.208000	0.71279	0.650000	0.86243	CGC		0.547	MYH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071796.3			5	70	0	0	0	0.184627	0	5	70					T	23866021	C	T	23866021	3	4	78	1	0	0	0	0	1	0	0	0	10038	768	27	1	3729	1	MYH6	14	23866021	Missense_Mutation	SNP	C	TCGA-EJ-7115-01A-11D-2114-08		23866021	83483519	40	4100											
LMAN1L	79748	broad.mit.edu	37	chr15	75105252	75105253	+	Frame_Shift_Del	DEL	CC	CC	-																															cttctcctcctgctcctggaCccccacagccctgagacggg																										TCGA-EJ-7115-01A-11D-2114-08	TCGA-EJ-7115-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67324969-d5d7-4ae7-b8f7-26b11d6c0439	6ee4d1f0-da1d-4650-9d06-7f1bc0b11407	g.chr15:75105252_75105253delCC	ENST00000309664.5	+	1	196_197	c.57_58delCC	c.(55-60)gaccccfs	p.P20fs	LMAN1L_ENST00000379709.3_Frame_Shift_Del_p.P20fs	NM_021819.2	NP_068591.2	Q9HAT1	LMA1L_HUMAN	lectin, mannose-binding, 1 like	20						integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			NS(2)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						TGCTCCTGGACCCCCACAGCCC	0.609																																						ENST00000309664.5																			0				NS(2)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(55-60)gaccfs		lectin, mannose-binding, 1 like																																				SO:0001589	frameshift_variant	79748					ER-Golgi intermediate compartment membrane|integral to membrane	sugar binding	g.chr15:75105252_75105253delCC	AF303398	CCDS10270.1	15q24.1	2005-08-05			ENSG00000140506	ENSG00000140506			6632	protein-coding gene	gene with protein product		609548				11255007	Standard	NM_021819		Approved	ERGL, ERGIC-53L	uc002ayt.1	Q9HAT1	OTTHUMG00000142813	ENST00000309664.5:c.57_58delCC	15.37:g.75105254_75105255delCC	ENSP00000310431:p.Pro20fs					LMAN1L_ENST00000379709.3_Frame_Shift_Del_p.DP19fs	p.DP19fs	NM_021819.2	NP_068591.2	Q9HAT1	LMA1L_HUMAN			1	196_197	+			19					Q6UWN2	Frame_Shift_Del	DEL	ENST00000309664.5	37	c.57_58delCC	CCDS10270.1																																																																																				0.609	LMAN1L-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286397.4			34	133						34	133	---	---	---	---	-	75105253	CC	-	75105252	7	5	78	1	0	1	0	1	0	0	0	0	8837	506	18	0	59	0	LMAN1L	15	75105252	Frame_Shift_Del	DEL	CC	TCGA-EJ-7115-01A-11D-2114-08		75105252	27426140	41	4101											
CREBBP	1387	broad.mit.edu	37	chr16	3778439	3778451	+	Frame_Shift_Del	DEL	TTGCTGCTGCTGC	TTGCTGCTGCTGC	-																															tgctgttgttgctgctgctgTtgctgctgctgctgcagcag																								rs62636220|rs538605698|rs570415368	byFrequency	TCGA-EJ-7115-01A-11D-2114-08	TCGA-EJ-7115-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67324969-d5d7-4ae7-b8f7-26b11d6c0439	6ee4d1f0-da1d-4650-9d06-7f1bc0b11407	g.chr16:3778439_3778451delTTGCTGCTGCTGC	ENST00000262367.5	-	31	7406_7418	c.6597_6609delGCAGCAGCAGCAA	c.(6595-6609)cagcagcagcagcaafs	p.QQQQQ2209fs	CREBBP_ENST00000382070.3_Frame_Shift_Del_p.QQQQQ2171fs	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	2209	Poly-Gln.				cellular lipid metabolic process (GO:0044255)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|embryonic digit morphogenesis (GO:0042733)|gene expression (GO:0010467)|germ-line stem cell maintenance (GO:0030718)|histone acetylation (GO:0016573)|homeostatic process (GO:0042592)|innate immune response (GO:0045087)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein complex assembly (GO:0006461)|regulation of smoothened signaling pathway (GO:0008589)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|response to hypoxia (GO:0001666)|rhythmic process (GO:0048511)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nuclear body (GO:0016604)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|histone acetyltransferase activity (GO:0004402)|MRF binding (GO:0043426)|p53 binding (GO:0002039)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		gctgctgctgttgctgctgctgctgcagcagct	0.606			"T, N, F, Mis, O"	"MLL, MORF, RUNXBP2"	"ALL, AML, DLBCL, B-NHL "		Rubinstein-Taybi syndrome																															ENST00000262367.5				Dom/Rec	yes		16	16p13.3	1387	"T, N, F, Mis, O"	CREB binding protein (CBP)	yes	Rubinstein-Taybi syndrome	L	"MLL, MORF, RUNXBP2"		"ALL, AML, DLBCL, B-NHL "		0				NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295						c.(6595-6609)cafs		CREB binding protein																																				SO:0001589	frameshift_variant	1387				cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding	g.chr16:3778439_3778451delTTGCTGCTGCTGC	U85962	CCDS10509.1, CCDS45399.1	16p13.3	2011-07-01	2008-08-01		ENSG00000005339	ENSG00000005339		"Chromatin-modifying enzymes / K-acetyltransferases"	2348	protein-coding gene	gene with protein product		600140	"Rubinstein-Taybi syndrome"	RSTS		8413673	Standard	NM_001079846		Approved	RTS, CBP, KAT3A	uc002cvv.3	Q92793	OTTHUMG00000129431	ENST00000262367.5:c.6597_6609delGCAGCAGCAGCAA	16.37:g.3778439_3778451delTTGCTGCTGCTGC	ENSP00000262367:p.Gln2209fs					CREBBP_ENST00000382070.3_Frame_Shift_Del_p.QQQQQ2171fs	p.QQQQQ2209fs	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)	31	7406_7418	-		Ovarian(90;0.0266)	2209			Poly-Gln.		D3DUC9|O00147|Q16376|Q4LE28	Frame_Shift_Del	DEL	ENST00000262367.5	37	c.6597_6609delGCAGCAGCAGCAA	CCDS10509.1																																																																																				0.606	CREBBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251591.2	NM_004380		17	36						17	36	---	---	---	---	-	3778451	TTGCTGCTGCTGC	-	3778439	7	5	78	1	0	1	0	1	0	0	0	0	3861	1722	60	0	723	0	CREBBP	16	3778439	Frame_Shift_Del	DEL	TTGCTGCTGCTGC	TCGA-EJ-7115-01A-11D-2114-08		3778439	86576314	42	4102											
EZH1	2145	broad.mit.edu	37	chr17	40865284	40865284	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcactgtctccttctttagTctcagccacagcagaggctg	7	12	9	13	0	4	1	2	0	3	1	6	1	4	1	2	1	2	2	2	1	1	3			TCGA-EJ-7115-01A-11D-2114-08	TCGA-EJ-7115-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67324969-d5d7-4ae7-b8f7-26b11d6c0439	6ee4d1f0-da1d-4650-9d06-7f1bc0b11407	g.chr17:40865284T>C	ENST00000428826.2	-	11	1268	c.1147A>G	c.(1147-1149)Act>Gct	p.T383A	EZH1_ENST00000435174.1_Missense_Mutation_p.T244A|EZH1_ENST00000415827.2_Missense_Mutation_p.T374A|EZH1_ENST00000585893.1_Missense_Mutation_p.T343A|EZH1_ENST00000590078.1_Missense_Mutation_p.T313A|EZH1_ENST00000592743.1_Missense_Mutation_p.T383A			Q92800	EZH1_HUMAN	enhancer of zeste 1 polycomb repressive complex 2 subunit	383					anatomical structure morphogenesis (GO:0009653)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	ESC/E(Z) complex (GO:0035098)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|histone methyltransferase activity (H3-K27 specific) (GO:0046976)			breast(1)|endometrium(4)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2)	27		Breast(137;0.00104)		BRCA - Breast invasive adenocarcinoma(366;0.0784)		CCTTCTTTAGTCTCAGCCACA	0.537																																						ENST00000428826.2																			0				breast(1)|endometrium(4)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2)	27						c.(1147-1149)Act>Gct		enhancer of zeste homolog 1 (Drosophila)							107	93	98					17																	40865284		2203	4300	6503	SO:0001583	missense	2145				anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex	chromatin binding|DNA binding	g.chr17:40865284T>C		CCDS32659.1	17q21.1-q21.3	2014-05-28	2014-05-28			ENSG00000108799		"Chromatin-modifying enzymes / K-methyltransferases"	3526	protein-coding gene	gene with protein product		601674	"enhancer of zeste (Drosophila) homolog 1", "enhancer of zeste homolog 1 (Drosophila)"			8921387	Standard	NM_001991		Approved	KIAA0388, KMT6B	uc002iaz.3	Q92800		ENST00000428826.2:c.1147A>G	17.37:g.40865284T>C	ENSP00000404658:p.Thr383Ala					EZH1_ENST00000590078.1_Missense_Mutation_p.T313A|EZH1_ENST00000585893.1_Missense_Mutation_p.T343A|EZH1_ENST00000592743.1_Missense_Mutation_p.T383A|EZH1_ENST00000435174.1_Missense_Mutation_p.T244A|EZH1_ENST00000415827.2_Missense_Mutation_p.T374A	p.T383A			Q92800	EZH1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.0784)	11	1268	-		Breast(137;0.00104)	383					A6NCH6|B4DIJ1|B4DIZ7|B4DSS2|B4E3R7|O43287|Q14459|Q53XP3	Missense_Mutation	SNP	ENST00000428826.2	37	c.1147A>G	CCDS32659.1	.	.	.	.	.	.	.	.	.	.	T	13.21	2.169963	0.38315	.	.	ENSG00000108799	ENST00000264646;ENST00000428826;ENST00000415827;ENST00000435174	T;T	0.77358	-1.09;-1.09	5.26	5.26	0.73747	.	0.219882	0.49916	D	0.000139	T	0.64940	0.2644	L	0.40543	1.245	0.44079	D	0.996835	B;B;B;B;B	0.06786	0.001;0.001;0.001;0.001;0.0	B;B;B;B;B	0.08055	0.003;0.001;0.002;0.001;0.001	T	0.57447	-0.7810	10	0.07175	T	0.84	.	10.5239	0.44936	0.0:0.0751:0.0:0.9248	.	244;343;389;313;383	Q92800-5;Q92800-3;Q92800-2;Q92800-4;Q92800	.;.;.;.;EZH1_HUMAN	A	386;383;343;244	ENSP00000404658:T383A;ENSP00000404071:T244A	ENSP00000264646:T386A	T	-	1	0	EZH1	38118810	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	0.907000	0.28531	2.207000	0.71202	0.454000	0.30748	ACT		0.537	EZH1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452347.1	NM_001991		40	68	0	0	0	0.812448	0	40	68					C	40865284	T	C	40865284	3	2	78	1	0	0	0	0	1	0	0	0	5333	1667	58	4	1140	4	EZH1	17	40865284	Missense_Mutation	SNP	T	TCGA-EJ-7115-01A-11D-2114-08		40865284	40329926	43	4103											
SPOP	8405	broad.mit.edu	37	chr17	47696432	47696432	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgaatttcttgaatccccAgtctttgccttgcacaaacc	10	13	6	12	0	2	2	0	2	2	0	3	3	3	2	4	0	3	1	4	0	3	4			TCGA-EJ-7115-01A-11D-2114-08	TCGA-EJ-7115-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67324969-d5d7-4ae7-b8f7-26b11d6c0439	6ee4d1f0-da1d-4650-9d06-7f1bc0b11407	g.chr17:47696432A>C	ENST00000393328.2	-	6	756	c.391T>G	c.(391-393)Tgg>Ggg	p.W131G	SPOP_ENST00000347630.2_Missense_Mutation_p.W131G|SPOP_ENST00000504102.1_Missense_Mutation_p.W131G|SPOP_ENST00000513080.1_5'Flank|SPOP_ENST00000503676.1_Missense_Mutation_p.W131G|SPOP_ENST00000393331.3_Missense_Mutation_p.W131G	NM_003563.3	NP_003554.1	O43791	SPOP_HUMAN	speckle-type POZ protein	131	Important for binding substrate proteins.|MATH. {ECO:0000255|PROSITE- ProRule:PRU00129}.|Required for nuclear localization.				glucose homeostasis (GO:0042593)|positive regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902237)|positive regulation of type B pancreatic cell apoptotic process (GO:2000676)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	Cul3-RING ubiquitin ligase complex (GO:0031463)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	ubiquitin protein ligase binding (GO:0031625)	p.W131G(2)|p.W131R(1)		endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						TTGAATCCCCAGTCTTTGCCT	0.458										Prostate(2;0.17)																												ENST00000393331.3																			3	Substitution - Missense(3)	p.W131G(2)|p.W131R(1)	prostate(3)	endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						c.(391-393)Tgg>Ggg		speckle-type POZ protein							121	124	123					17																	47696432		2203	4300	6503	SO:0001583	missense	8405				mRNA processing	nucleus	protein binding	g.chr17:47696432A>C	AJ000644	CCDS11551.1	17q21.33	2013-01-09			ENSG00000121067	ENSG00000121067		"BTB/POZ domain containing"	11254	protein-coding gene	gene with protein product		602650				9414087	Standard	NM_001007227		Approved	TEF2, BTBD32	uc002ipg.3	O43791	OTTHUMG00000161496	ENST00000393328.2:c.391T>G	17.37:g.47696432A>C	ENSP00000377001:p.Trp131Gly	Prostate(2;0.17)				SPOP_ENST00000504102.1_Missense_Mutation_p.W131G|SPOP_ENST00000393328.2_Missense_Mutation_p.W131G|SPOP_ENST00000347630.2_Missense_Mutation_p.W131G|SPOP_ENST00000503676.1_Missense_Mutation_p.W131G	p.W131G	NM_001007226.1|NM_001007227.1	NP_001007227.1|NP_001007228.1	O43791	SPOP_HUMAN			7	861	-			131			MATH.|Required for nuclear localization.		B2R6S3|D3DTW7|Q53HJ1	Missense_Mutation	SNP	ENST00000393328.2	37	c.391T>G	CCDS11551.1	.	.	.	.	.	.	.	.	.	.	A	20.8	4.058244	0.76074	.	.	ENSG00000121067	ENST00000393328;ENST00000393331;ENST00000347630;ENST00000504102;ENST00000503536;ENST00000503676;ENST00000513872;ENST00000509079;ENST00000505581;ENST00000507970;ENST00000514121	T;T;T;T;T;T;T;T;T	0.70045	-0.45;-0.45;-0.45;-0.45;-0.45;-0.45;-0.45;-0.45;-0.45	5.41	5.41	0.78517	TRAF-type (1);TRAF-like (1);MATH (3);	0.000000	0.85682	D	0.000000	T	0.81851	0.4910	H	0.95402	3.665	0.80722	D	1	P	0.43024	0.798	P	0.47786	0.557	D	0.87031	0.2135	10	0.72032	D	0.01	0.1404	15.258	0.73599	1.0:0.0:0.0:0.0	.	131	O43791	SPOP_HUMAN	G	131;131;131;131;15;131;84;131;131;131;131	ENSP00000377001:W131G;ENSP00000377004:W131G;ENSP00000240327:W131G;ENSP00000425905:W131G;ENSP00000420908:W131G;ENSP00000426986:W131G;ENSP00000420960:W131G;ENSP00000426262:W131G;ENSP00000424119:W131G	ENSP00000240327:W131G	W	-	1	0	SPOP	45051431	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.056000	0.93881	2.261000	0.74972	0.460000	0.39030	TGG		0.458	SPOP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365154.2	NM_003563		51	126	0	0	0	0.870114	0	51	126					C	47696432	A	C	47696432	3	2	78	1	0	0	0	0	1	0	0	0	15083	188	7	5	757	5	SPOP	17	47696432	Missense_Mutation	SNP	A	TCGA-EJ-7115-01A-11D-2114-08	6831148	47696432	33498778	44	4104											
GNAL	2774	broad.mit.edu	37	chr18	11881048	11881048	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acccgcacttcacctgcgccGtggacacagagaacatccgc	10	5	9	17	4	1	1	1	0	0	1	2	3	2	2	4	1	2	1	4	1	1	1			TCGA-EJ-7115-01A-11D-2114-08	TCGA-EJ-7115-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67324969-d5d7-4ae7-b8f7-26b11d6c0439	6ee4d1f0-da1d-4650-9d06-7f1bc0b11407	g.chr18:11881048G>A	ENST00000423027.3	+	12	1381	c.1060G>A	c.(1060-1062)Gtg>Atg	p.V354M	GNAL_ENST00000602628.1_Missense_Mutation_p.V147M|GNAL_ENST00000269162.5_Missense_Mutation_p.V354M|GNAL_ENST00000535121.1_Missense_Mutation_p.V354M|GNAL_ENST00000334049.6_Missense_Mutation_p.V431M			P38405	GNAL_HUMAN	guanine nucleotide binding protein (G protein), alpha activating activity polypeptide, olfactory type	354					activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|response to amphetamine (GO:0001975)|response to caffeine (GO:0031000)|sensory perception of smell (GO:0007608)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|plasma membrane (GO:0005886)	G-protein beta/gamma-subunit complex binding (GO:0031683)|G-protein coupled receptor binding (GO:0001664)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)			central_nervous_system(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(4)|ovary(1)	12						CACCTGCGCCGTGGACACAGA	0.607																																						ENST00000334049.6																			0				central_nervous_system(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(4)|ovary(1)	12						c.(1291-1293)Gtg>Atg		guanine nucleotide binding protein (G protein), alpha activating activity polypeptide, olfactory type							99	68	79					18																	11881048		2203	4300	6503	SO:0001583	missense	2774				activation of adenylate cyclase activity by dopamine receptor signaling pathway|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception of smell|synaptic transmission	heterotrimeric G-protein complex	adenylate cyclase activity|G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity	g.chr18:11881048G>A	AF493893	CCDS11851.1, CCDS11852.1, CCDS58614.1	18p11.22-p11.21	2003-12-17			ENSG00000141404	ENSG00000141404			4388	protein-coding gene	gene with protein product		139312				1302014	Standard	NM_182978		Approved		uc002kqc.3	P38405	OTTHUMG00000131660	ENST00000423027.3:c.1060G>A	18.37:g.11881048G>A	ENSP00000408489:p.Val354Met					GNAL_ENST00000602628.1_Missense_Mutation_p.V147M|GNAL_ENST00000423027.3_Missense_Mutation_p.V354M|GNAL_ENST00000269162.5_Missense_Mutation_p.V354M|GNAL_ENST00000535121.1_Missense_Mutation_p.V354M|GNAL_ENST00000535980.1_3'UTR	p.V431M	NM_182978.3	NP_892023.1	P38405	GNAL_HUMAN			12	1899	+			354					B7ZA26|Q86XU3	Missense_Mutation	SNP	ENST00000423027.3	37	c.1291G>A	CCDS11852.1	.	.	.	.	.	.	.	.	.	.	G	27.6	4.845500	0.91197	.	.	ENSG00000141404	ENST00000540217;ENST00000334049;ENST00000535121;ENST00000269162;ENST00000423027;ENST00000535980	D;D;D;D	0.88975	-2.45;-2.45;-2.45;-2.45	5.55	5.55	0.83447	.	0.272597	0.41605	D	0.000856	D	0.95570	0.8560	M	0.88704	2.975	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.78314	0.985;0.991	D	0.95963	0.8963	10	0.87932	D	0	.	19.4958	0.95072	0.0:0.0:1.0:0.0	.	354;431	P38405;Q86XU3	GNAL_HUMAN;.	M	293;431;354;354;354;147	ENSP00000334051:V431M;ENSP00000439023:V354M;ENSP00000269162:V354M;ENSP00000408489:V354M	ENSP00000269162:V354M	V	+	1	0	GNAL	11871048	1.000000	0.71417	0.990000	0.47175	0.995000	0.86356	7.974000	0.88039	2.591000	0.87537	0.563000	0.77884	GTG		0.607	GNAL-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254561.2	NM_182978, NM_002071		16	23	0	0	0	0.500413	0	16	23					A	11881048	G	A	11881048	3	1	78	1	0	0	0	0	1	0	0	0	6507	1145	40	1	1486	1	GNAL	18	11881048	Missense_Mutation	SNP	G	TCGA-EJ-7115-01A-11D-2114-08		11881048	66196200	45	4105											
TCF4	6925	broad.mit.edu	37	chr18	52901781	52901781	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctggtgaggccaacctacctCtgtaagggtcctggggtggg	6	9	16	10	0	1	1	0	1	1	0	2	1	2	1	4	6	2	1	4	6	3	2			TCGA-EJ-7115-01A-11D-2114-08	TCGA-EJ-7115-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67324969-d5d7-4ae7-b8f7-26b11d6c0439	6ee4d1f0-da1d-4650-9d06-7f1bc0b11407	g.chr18:52901781C>T	ENST00000356073.4	-	16	2095	c.1484G>A	c.(1483-1485)aGa>aAa	p.R495K	TCF4_ENST00000566279.1_Missense_Mutation_p.R435K|TCF4_ENST00000565018.2_Missense_Mutation_p.R495K|TCF4_ENST00000567880.1_Missense_Mutation_p.R435K|TCF4_ENST00000354452.3_Missense_Mutation_p.R495K|TCF4_ENST00000561831.3_Missense_Mutation_p.R335K|TCF4_ENST00000564403.2_Missense_Mutation_p.R501K|TCF4_ENST00000537856.3_Missense_Mutation_p.R365K|TCF4_ENST00000568673.1_Missense_Mutation_p.R471K|TCF4_ENST00000561992.1_Missense_Mutation_p.R365K|TCF4_ENST00000537578.1_Missense_Mutation_p.R471K|TCF4_ENST00000570287.2_Missense_Mutation_p.R335K|TCF4_ENST00000564228.1_Missense_Mutation_p.R424K|TCF4_ENST00000570177.2_Missense_Mutation_p.R365K|TCF4_ENST00000540999.1_Missense_Mutation_p.R471K|TCF4_ENST00000457482.3_Missense_Mutation_p.R335K|TCF4_ENST00000568740.1_Missense_Mutation_p.R470K|TCF4_ENST00000566286.1_Missense_Mutation_p.R492K|TCF4_ENST00000543082.1_Missense_Mutation_p.R453K|TCF4_ENST00000544241.2_Missense_Mutation_p.R424K|TCF4_ENST00000564999.1_Missense_Mutation_p.R495K|TCF4_ENST00000398339.1_Missense_Mutation_p.R597K	NM_003199.2	NP_003190.1	P15884	ITF2_HUMAN	transcription factor 4	495					DNA-templated transcription, initiation (GO:0006352)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein-DNA complex assembly (GO:0065004)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|E-box binding (GO:0070888)|protein C-terminus binding (GO:0008022)|protein heterodimerization activity (GO:0046982)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding RNA polymerase recruiting transcription factor activity (GO:0001011)|sequence-specific DNA binding transcription factor activity (GO:0003700)|TFIIB-class binding transcription factor activity (GO:0001087)|TFIIB-class transcription factor binding (GO:0001093)			breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1)	41				Colorectal(16;0.00108)|READ - Rectum adenocarcinoma(59;0.0649)|COAD - Colon adenocarcinoma(17;0.0718)		CAACCTACCTCTGTAAGGGTC	0.557											OREG0024990	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000354452.3																			0				breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1)	41						c.(1483-1485)aGa>aAa		transcription factor 4							92	90	91					18																	52901781		2203	4300	6503	SO:0001583	missense	6925				positive regulation of neuron differentiation|protein-DNA complex assembly|transcription initiation from RNA polymerase II promoter	transcription factor complex	E-box binding|protein C-terminus binding|protein heterodimerization activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding RNA polymerase recruiting transcription factor activity|TFIIB-class binding transcription factor activity|TFIIB-class transcription factor binding	g.chr18:52901781C>T	M74719	CCDS11960.1, CCDS42438.1, CCDS58623.1, CCDS58624.1, CCDS58625.1, CCDS58626.1, CCDS58627.1, CCDS58628.1, CCDS58629.1, CCDS58630.1, CCDS58631.1, CCDS59321.1	18q21.1	2013-05-21			ENSG00000196628	ENSG00000196628		"Basic helix-loop-helix proteins"	11634	protein-coding gene	gene with protein product		602272				9302263, 2308860	Standard	NM_001083962		Approved	SEF2-1B, ITF2, bHLHb19, E2-2	uc002lga.3	P15884	OTTHUMG00000132713	ENST00000356073.4:c.1484G>A	18.37:g.52901781C>T	ENSP00000348374:p.Arg495Lys		OREG0024990	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	988	TCF4_ENST00000537578.1_Missense_Mutation_p.R471K|TCF4_ENST00000567880.1_Missense_Mutation_p.R435K|TCF4_ENST00000565018.2_Missense_Mutation_p.R495K|TCF4_ENST00000566279.1_Missense_Mutation_p.R435K|TCF4_ENST00000543082.1_Missense_Mutation_p.R453K|TCF4_ENST00000537856.3_Missense_Mutation_p.R365K|TCF4_ENST00000561831.3_Missense_Mutation_p.R335K|TCF4_ENST00000566286.1_Missense_Mutation_p.R492K|TCF4_ENST00000544241.2_Missense_Mutation_p.R424K|TCF4_ENST00000570177.2_Missense_Mutation_p.R365K|TCF4_ENST00000564228.1_Missense_Mutation_p.R424K|TCF4_ENST00000540999.1_Missense_Mutation_p.R471K|TCF4_ENST00000564403.2_Missense_Mutation_p.R501K|TCF4_ENST00000398339.1_Missense_Mutation_p.R597K|TCF4_ENST00000570287.2_Missense_Mutation_p.R335K|TCF4_ENST00000568673.1_Missense_Mutation_p.R471K|TCF4_ENST00000564999.1_Missense_Mutation_p.R495K|TCF4_ENST00000561992.1_Missense_Mutation_p.R365K|TCF4_ENST00000356073.4_Missense_Mutation_p.R495K|TCF4_ENST00000457482.3_Missense_Mutation_p.R335K|TCF4_ENST00000568740.1_Missense_Mutation_p.R470K	p.R495K	NM_001083962.1	NP_001077431.1	P15884	ITF2_HUMAN		Colorectal(16;0.00108)|READ - Rectum adenocarcinoma(59;0.0649)|COAD - Colon adenocarcinoma(17;0.0718)	16	2095	-			495					B3KT62|B3KUC0|B4DT37|B4DUG3|B7Z5M6|B7Z6Y1|G0LNT9|G0LNU0|G0LNU1|G0LNU2|G0LNU4|G0LNU5|G0LNU8|G0LNU9|G0LNV0|G0LNV1|G0LNV2|H3BPQ1|Q08AP2|Q08AP3|Q15439|Q15440|Q15441	Missense_Mutation	SNP	ENST00000356073.4	37	c.1484G>A	CCDS11960.1	.	.	.	.	.	.	.	.	.	.	C	18.00	3.525665	0.64860	.	.	ENSG00000196628	ENST00000354452;ENST00000457482;ENST00000356073;ENST00000543082;ENST00000540999;ENST00000537578;ENST00000544241;ENST00000537856;ENST00000398339	T;T;T;T;T;T;T;T;T	0.17854	2.5;2.25;2.51;2.5;2.51;2.52;2.51;2.26;2.48	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	T	0.40145	0.1105	M	0.70595	2.14	0.58432	D	0.999999	P;D;P;B;P;P;P;P;D	0.69078	0.945;0.997;0.486;0.302;0.841;0.895;0.945;0.902;0.967	P;P;B;B;P;P;P;P;P	0.61592	0.622;0.891;0.431;0.117;0.745;0.469;0.622;0.87;0.64	T	0.05321	-1.0892	10	0.46703	T	0.11	-14.2789	18.543	0.91037	0.0:1.0:0.0:0.0	.	471;495;335;597;495;453;424;335;492	B7Z5M6;G0LNT9;G0LNV1;E9PH57;P15884;B3KUC0;B3KT62;G0LNU9;G0LNU5	.;.;.;.;ITF2_HUMAN;.;.;.;.	K	495;335;495;453;471;471;424;365;597	ENSP00000346440:R495K;ENSP00000409447:R335K;ENSP00000348374:R495K;ENSP00000439656:R453K;ENSP00000445202:R471K;ENSP00000440731:R471K;ENSP00000441562:R424K;ENSP00000439827:R365K;ENSP00000381382:R597K	ENSP00000346440:R495K	R	-	2	0	TCF4	51052779	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	6.464000	0.73534	2.758000	0.94735	0.563000	0.77884	AGA		0.557	TCF4-002	KNOWN	upstream_uORF|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256014.1	NM_003199		25	77	0	0	0	0.654019	0	25	77					T	52901781	C	T	52901781	3	4	78	1	0	0	0	0	1	0	0	0	15692	913	32	3	547	3	TCF4	18	52901781	Missense_Mutation	SNP	C	TCGA-EJ-7115-01A-11D-2114-08	41020733	52901781	25175467	46	4106											
CHERP	10523	broad.mit.edu	37	chr19	16643484	16643484	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtgccccatcagccgtgatgCggttccggaggtggccggcc	4	7	16	14	4	1	1	1	1	0	0	2	2	2	2	6	5	3	1	6	5	0	1	rs368216200		TCGA-EJ-7115-01A-11D-2114-08	TCGA-EJ-7115-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67324969-d5d7-4ae7-b8f7-26b11d6c0439	6ee4d1f0-da1d-4650-9d06-7f1bc0b11407	g.chr19:16643484C>T	ENST00000198939.6	-	5	635	c.599G>A	c.(598-600)cGc>cAc	p.R200H	CHERP_ENST00000546361.2_Missense_Mutation_p.R200H|CTD-3222D19.2_ENST00000409035.1_Intron					calcium homeostasis endoplasmic reticulum protein											endometrium(3)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|stomach(1)|urinary_tract(3)	24						AGCCGTGATGCGGTTCCGGAG	0.632																																						ENST00000546361.2																			0				endometrium(3)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|stomach(1)|urinary_tract(3)	24						c.(598-600)cGc>cAc		calcium homeostasis endoplasmic reticulum protein		C	HIS/ARG	0,4352		0,0,2176	59	70	67		599	4.9	1	19		67	1,8557		0,1,4278	no	missense	CHERP	NM_006387.5	29	0,1,6454	TT,TC,CC		0.0117,0.0,0.0077	probably-damaging	200/917	16643484	1,12909	2176	4279	6455	SO:0001583	missense	10523				cellular calcium ion homeostasis|negative regulation of cell proliferation|nervous system development|RNA processing	endoplasmic reticulum|perinuclear region of cytoplasm	RNA binding	g.chr19:16643484C>T	U94836	CCDS42518.1	19p13.1	2013-01-28				ENSG00000085872		"G patch domain containing"	16930	protein-coding gene	gene with protein product						8896557, 10794731	Standard	NM_006387		Approved	ERPROT213-21, DAN16	uc002nei.1	Q8IWX8	OTTHUMG00000169304	ENST00000198939.6:c.599G>A	19.37:g.16643484C>T	ENSP00000198939:p.Arg200His					CTD-3222D19.2_ENST00000409035.1_Intron|CHERP_ENST00000198939.6_Missense_Mutation_p.R200H	p.R200H	NM_006387.5	NP_006378.3	Q8IWX8	CHERP_HUMAN			5	750	-			200			CID.			Missense_Mutation	SNP	ENST00000198939.6	37	c.599G>A		.	.	.	.	.	.	.	.	.	.	C	35	5.428493	0.96131	0.0	1.17E-4	ENSG00000085872	ENST00000546361;ENST00000198939	T;T	0.44083	0.93;0.93	4.94	4.94	0.65067	ENTH/VHS (1);RNA polymerase II, large subunit, CTD (2);	.	.	.	.	T	0.60392	0.2265	L	0.53249	1.67	0.80722	D	1	D	0.76494	0.999	D	0.73380	0.98	T	0.62779	-0.6782	9	0.59425	D	0.04	-22.2596	17.136	0.86739	0.0:1.0:0.0:0.0	.	200	Q8IWX8	CHERP_HUMAN	H	200	ENSP00000439856:R200H;ENSP00000198939:R200H	ENSP00000198939:R200H	R	-	2	0	CHERP	16504484	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	7.465000	0.80898	2.286000	0.76751	0.491000	0.48974	CGC		0.632	CHERP-003	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000403372.1	NM_006387		4	69	0	0	0	0.150653	0	4	69					T	16643484	C	T	16643484	3	4	78	1	0	0	0	0	1	0	0	0	3336	768	27	1	2203	1	CHERP	19	16643484	Missense_Mutation	SNP	C	TCGA-EJ-7115-01A-11D-2114-08		16643484	42485499	47	4107											
NPHS1	4868	broad.mit.edu	37	chr19	36334480	36334480	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagtggggtcctggagggcaCggatggtgggagcatctggt	6	8	20	7	1	1	0	0	0	1	0	2	3	2	3	1	8	1	2	1	8	0	0	rs386833910		TCGA-EJ-7115-01A-11D-2114-08	TCGA-EJ-7115-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67324969-d5d7-4ae7-b8f7-26b11d6c0439	6ee4d1f0-da1d-4650-9d06-7f1bc0b11407	g.chr19:36334480C>T	ENST00000378910.5	-	17	2227	c.2228G>A	c.(2227-2229)cGt>cAt	p.R743H	NPHS1_ENST00000353632.6_Missense_Mutation_p.R743H	NM_004646.3	NP_004637.1	O60500	NPHN_HUMAN	nephrosis 1, congenital, Finnish type (nephrin)	743	Ig-like C2-type 7.		R -> C (in NPHS1; does not affect protein expression on the cell surface). {ECO:0000269|PubMed:11317351, ECO:0000269|PubMed:20172850, ECO:0000269|PubMed:9915943}.		cell adhesion (GO:0007155)|excretion (GO:0007588)|glomerular basement membrane development (GO:0032836)|glomerular visceral epithelial cell development (GO:0072015)|JNK cascade (GO:0007254)|myoblast fusion (GO:0007520)|positive regulation of actin filament polymerization (GO:0030838)|regulation of excretion (GO:0044062)|skeletal muscle tissue development (GO:0007519)	cell projection (GO:0042995)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|slit diaphragm (GO:0036057)	myosin binding (GO:0017022)	p.R743L(1)		NS(2)|breast(1)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(1)|lung(26)|ovary(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CTGGAGGGCACGGATGGTGGG	0.612																																						ENST00000378910.5																			1	Substitution - Missense(1)	p.R743L(1)	lung(1)	NS(2)|breast(1)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(1)|lung(26)|ovary(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74						c.(2227-2229)cGt>cAt		nephrosis 1, congenital, Finnish type (nephrin)							102	87	92					19																	36334480		2203	4300	6503	SO:0001583	missense	4868				cell adhesion|excretion|muscle organ development	integral to plasma membrane		g.chr19:36334480C>T		CCDS32996.1	19q12-q13.1	2014-09-17				ENSG00000161270		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	7908	protein-coding gene	gene with protein product		602716				9915943, 9660941	Standard	NM_004646		Approved	CNF, NPHN	uc002oby.3	O60500		ENST00000378910.5:c.2228G>A	19.37:g.36334480C>T	ENSP00000368190:p.Arg743His					NPHS1_ENST00000353632.6_Missense_Mutation_p.R743H	p.R743H	NM_004646.3	NP_004637.1	O60500	NPHN_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0515)		17	2227	-	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		743		R -> C (in NPHS1; does not affect protein expression on the cell surface).	Ig-like C2-type 7.		A6NDH2|C3RX61	Missense_Mutation	SNP	ENST00000378910.5	37	c.2228G>A	CCDS32996.1	.	.	.	.	.	.	.	.	.	.	C	18.55	3.647722	0.67358	.	.	ENSG00000161270	ENST00000378910;ENST00000353632	T;T	0.13420	2.59;2.59	5.04	5.04	0.67666	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.387540	0.24947	N	0.034340	T	0.14313	0.0346	L	0.31476	0.935	0.47949	D	0.99955	D	0.55605	0.972	P	0.46237	0.508	T	0.01436	-1.1355	10	0.45353	T	0.12	-11.0318	14.3119	0.66422	0.0:1.0:0.0:0.0	.	743	O60500	NPHN_HUMAN	H	743	ENSP00000368190:R743H;ENSP00000343634:R743H	ENSP00000343634:R743H	R	-	2	0	NPHS1	41026320	0.996000	0.38824	0.996000	0.52242	0.956000	0.61745	2.509000	0.45459	2.532000	0.85374	0.456000	0.33151	CGT		0.612	NPHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452553.1			5	117	0	0	0	0.184627	0	5	117					T	36334480	C	T	36334480	3	4	78	1	0	0	0	0	1	0	0	0	10582	536	19	1	1549	1	NPHS1	19	36334480	Missense_Mutation	SNP	C	TCGA-EJ-7115-01A-11D-2114-08	19690996	36334480	22794503	48	4108											
ZNF576	79177	broad.mit.edu	37	chr19	44103389	44103389	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ctgcatcaacactacattcgGcatgcccggggggagctctg	8	8	12	13	2	2	0	1	0	1	0	3	1	2	1	1	4	5	3	1	4	2	2			TCGA-EJ-7115-01A-11D-2114-08	TCGA-EJ-7115-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67324969-d5d7-4ae7-b8f7-26b11d6c0439	6ee4d1f0-da1d-4650-9d06-7f1bc0b11407	g.chr19:44103389G>A	ENST00000336564.4	+	3	646	c.492G>A	c.(490-492)cgG>cgA	p.R164R	ZNF576_ENST00000391965.2_Silent_p.R164R|ZNF576_ENST00000525771.1_Silent_p.R164R|SRRM5_ENST00000607544.1_Intron|ZNF576_ENST00000533118.1_Silent_p.R164R|ZNF576_ENST00000528387.1_Silent_p.R164R|ZNF576_ENST00000529930.1_Silent_p.R164R|SRRM5_ENST00000526798.1_Intron	NM_001145347.1	NP_001138819.1	Q9H609	ZN576_HUMAN	zinc finger protein 576	164					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			endometrium(1)|prostate(1)	2		Prostate(69;0.0199)				ACTACATTCGGCATGCCCGGG	0.612																																						ENST00000336564.4																			0				endometrium(1)|prostate(1)	2						c.(490-492)cgG>cgA		zinc finger protein 576							34	30	32					19																	44103389		2203	4300	6503	SO:0001819	synonymous_variant	79177				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44103389G>A	AK026353	CCDS12625.1	19q13.31	2013-09-20			ENSG00000124444	ENSG00000124444		"Zinc fingers, C2H2-type"	28357	protein-coding gene	gene with protein product						12477932	Standard	NM_024327		Approved	MGC2508	uc002owz.2	Q9H609	OTTHUMG00000165479	ENST00000336564.4:c.492G>A	19.37:g.44103389G>A						ZNF576_ENST00000391965.2_Silent_p.R164R|SRRM5_ENST00000607544.1_Intron|ZNF576_ENST00000533118.1_Silent_p.R164R|ZNF576_ENST00000525771.1_Silent_p.R164R|ZNF576_ENST00000529930.1_Silent_p.R164R|ZNF576_ENST00000528387.1_Silent_p.R164R|SRRM5_ENST00000526798.1_Intron	p.R164R	NM_001145347.1	NP_001138819.1	Q9H609	ZN576_HUMAN			3	646	+		Prostate(69;0.0199)	164					Q9BU03	Silent	SNP	ENST00000336564.4	37	c.492G>A	CCDS12625.1																																																																																				0.612	ZNF576-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384397.1	NM_024327		3	37	0	0	0	0.115264	0	3	37					A	44103389	G	A	44103389	2	1	78	1	0	0	0	0	0	0	0	1	18005	1190	42	3		3	ZNF576	19	44103389	Silent	SNP	G	TCGA-EJ-7115-01A-11D-2114-08	7768909	44103389	15025594	49	4109											
ZNF230	7773	broad.mit.edu	37	chr19	44515531	44515531	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaccacaatggagaaaactCatccaaatgtgaggactgtg	16	7	10	8	0	1	3	1	1	0	2	2	5	2	4	2	2	1	0	2	2	4	0	rs368656901		TCGA-EJ-7115-01A-11D-2114-08	TCGA-EJ-7115-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67324969-d5d7-4ae7-b8f7-26b11d6c0439	6ee4d1f0-da1d-4650-9d06-7f1bc0b11407	g.chr19:44515531C>A	ENST00000429154.2	+	5	1568	c.1340C>A	c.(1339-1341)tCa>tAa	p.S447*		NM_006300.3	NP_006291.2	Q9UIE0	ZN230_HUMAN	zinc finger protein 230	447					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(10)|skin(1)|stomach(3)|urinary_tract(2)	22		Prostate(69;0.0352)				GGAGAAAACTCATCCAAATGT	0.388																																					GBM(175;914 2069 22996 47111 52600)	ENST00000429154.2																			0				NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(10)|skin(1)|stomach(3)|urinary_tract(2)	22						c.(1339-1341)tCa>tAa		zinc finger protein 230							51	56	54					19																	44515531		2201	4299	6500	SO:0001587	stop_gained	7773				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44515531C>A	U95044	CCDS33044.1	19q13.31	2013-01-08				ENSG00000159882		"Zinc fingers, C2H2-type", "-"	13024	protein-coding gene	gene with protein product							Standard	NM_006300		Approved	FDZF2	uc002oyb.1	Q9UIE0		ENST00000429154.2:c.1340C>A	19.37:g.44515531C>A	ENSP00000409318:p.Ser447*						p.S447*	NM_006300.3	NP_006291.2	Q9UIE0	ZN230_HUMAN			5	1568	+		Prostate(69;0.0352)	447					O15322|Q504X7|Q86W84|Q9P1U6	Nonsense_Mutation	SNP	ENST00000429154.2	37	c.1340C>A	CCDS33044.1	.	.	.	.	.	.	.	.	.	.	C	37	6.083038	0.97267	.	.	ENSG00000159882	ENST00000429154	.	.	.	2.55	2.55	0.30701	.	.	.	.	.	.	.	.	.	.	.	0.20703	N	0.999863	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	.	12.1799	0.54206	0.0:1.0:0.0:0.0	.	.	.	.	X	447	.	ENSP00000409318:S447X	S	+	2	0	ZNF230	49207371	0.000000	0.05858	0.002000	0.10522	0.527000	0.34593	0.846000	0.27682	1.399000	0.46721	0.205000	0.17691	TCA		0.388	ZNF230-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460456.1			4	75	1	0	0.150653	0.150653	0.161263	4	75					A	44515531	C	A	44515531	4	1	78	1	0	0	0	0	0	1	0	0	17781	838	29	5	1354	5	ZNF230	19	44515531	Nonsense_Mutation	SNP	C	TCGA-EJ-7115-01A-11D-2114-08	412142	44515531	14613452	50	4110											
ADAMTS5	11096	broad.mit.edu	37	chr21	28306855	28306855	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctcccctttccacaaggcGtcccttccaccgcaggcagc	6	9	7	19	2	1	0	0	0	1	0	5	0	4	0	6	2	1	2	6	2	1	3			TCGA-EJ-7115-01A-11D-2114-08	TCGA-EJ-7115-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67324969-d5d7-4ae7-b8f7-26b11d6c0439	6ee4d1f0-da1d-4650-9d06-7f1bc0b11407	g.chr21:28306855G>A	ENST00000284987.5	-	4	1740	c.1619C>T	c.(1618-1620)aCg>aTg	p.T540M	AP001601.2_ENST00000426771.1_RNA	NM_007038.3	NP_008969.2	Q9UNA0	ATS5_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 5	540	Disintegrin.				defense response to bacterium (GO:0042742)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|proteolysis (GO:0006508)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	72						TCCACAAGGCGTCCCTTCCAC	0.522																																					Esophageal Squamous(53;683 1080 10100 14424 45938)	ENST00000284987.5																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	72						c.(1618-1620)aCg>aTg		ADAM metallopeptidase with thrombospondin type 1 motif, 5							98	89	92					21																	28306855		2203	4300	6503	SO:0001583	missense	11096				proteolysis	proteinaceous extracellular matrix	integrin binding|metalloendopeptidase activity|zinc ion binding	g.chr21:28306855G>A	AF142099	CCDS13579.1	21q21.3	2008-07-31	2008-07-31		ENSG00000154736	ENSG00000154736		"ADAM metallopeptidases with thrombospondin type 1 motif"	221	protein-coding gene	gene with protein product	"aggrecanase-2"	605007	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 5 (aggrecanase-2)"			10438522	Standard	NM_007038		Approved	ADMP-2, ADAMTS11	uc002ymg.3	Q9UNA0	OTTHUMG00000078686	ENST00000284987.5:c.1619C>T	21.37:g.28306855G>A	ENSP00000284987:p.Thr540Met					AP001601.2_ENST00000426771.1_RNA	p.T540M	NM_007038.3	NP_008969.2	Q9UNA0	ATS5_HUMAN			4	1740	-			540			Disintegrin.		Q52LV4|Q9UKP2	Missense_Mutation	SNP	ENST00000284987.5	37	c.1619C>T	CCDS13579.1	.	.	.	.	.	.	.	.	.	.	G	25.5	4.648468	0.87958	.	.	ENSG00000154736	ENST00000284987	T	0.72394	-0.65	5.68	5.68	0.88126	.	0.000000	0.85682	D	0.000000	D	0.84714	0.5533	M	0.90977	3.165	0.80722	D	1	D	0.69078	0.997	P	0.53102	0.718	D	0.88134	0.2840	10	0.87932	D	0	.	19.7912	0.96458	0.0:0.0:1.0:0.0	.	540	Q9UNA0	ATS5_HUMAN	M	540	ENSP00000284987:T540M	ENSP00000284987:T540M	T	-	2	0	ADAMTS5	27228726	1.000000	0.71417	0.750000	0.31169	0.728000	0.41692	9.405000	0.97313	2.694000	0.91930	0.557000	0.71058	ACG		0.522	ADAMTS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171648.1			14	74	0	0	0	0.500413	0	14	74					A	28306855	G	A	28306855	3	1	78	1	0	0	0	0	1	0	0	0	269	1145	40	1	1193	1	ADAMTS5	21	28306855	Missense_Mutation	SNP	G	TCGA-EJ-7115-01A-11D-2114-08		28306855	19823040	51	4111											
PMM1	5372	broad.mit.edu	37	chr22	41980560	41980560	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gagcagtcgtccgtgcttatActgcaccgtcccgttctcgg	5	11	11	14	5	1	0	0	0	1	0	5	1	3	0	3	1	4	4	3	1	2	3			TCGA-EJ-7115-01A-11D-2114-08	TCGA-EJ-7115-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67324969-d5d7-4ae7-b8f7-26b11d6c0439	6ee4d1f0-da1d-4650-9d06-7f1bc0b11407	g.chr22:41980560A>C	ENST00000216259.7	-	3	337	c.253T>G	c.(253-255)Tat>Gat	p.Y85D	PMM1_ENST00000466645.1_5'UTR	NM_002676.2	NP_002667.2	Q92871	PMM1_HUMAN	phosphomannomutase 1	85					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|GDP-mannose biosynthetic process (GO:0009298)|mannose biosynthetic process (GO:0019307)|mannose metabolic process (GO:0006013)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	cytosol (GO:0005829)|neuronal cell body (GO:0043025)	metal ion binding (GO:0046872)|phosphomannomutase activity (GO:0004615)			NS(1)|large_intestine(4)|lung(3)|ovary(1)|urinary_tract(2)	11						CCGTGCTTATACTGCACCGTC	0.542																																						ENST00000216259.7																			0				NS(1)|large_intestine(4)|lung(3)|ovary(1)|urinary_tract(2)	11						c.(253-255)Tat>Gat		phosphomannomutase 1							95	89	91					22																	41980560		2203	4300	6503	SO:0001583	missense	5372				dolichol-linked oligosaccharide biosynthetic process|GDP-mannose biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	cytosol	metal ion binding|phosphomannomutase activity	g.chr22:41980560A>C		CCDS14020.1	22q13	2008-12-01			ENSG00000100417	ENSG00000100417	5.4.2.8		9114	protein-coding gene	gene with protein product	"brain glucose-1,6-bisphosphatase"	601786				9070917, 9271215	Standard	NM_002676		Approved	Sec53	uc003bal.2	Q92871	OTTHUMG00000150972	ENST00000216259.7:c.253T>G	22.37:g.41980560A>C	ENSP00000216259:p.Tyr85Asp					PMM1_ENST00000466645.1_5'UTR	p.Y85D	NM_002676.2	NP_002667.2	Q92871	PMM1_HUMAN			3	337	-			85					A8K003|Q92586	Missense_Mutation	SNP	ENST00000216259.7	37	c.253T>G	CCDS14020.1	.	.	.	.	.	.	.	.	.	.	A	20.5	4.007858	0.75046	.	.	ENSG00000100417	ENST00000216259	D	0.98792	-5.14	4.76	4.76	0.60689	HAD-like domain (2);	0.000000	0.85682	D	0.000000	D	0.98166	0.9394	M	0.90650	3.135	0.80722	D	1	P	0.34780	0.468	B	0.32677	0.15	D	0.99129	1.0852	10	0.87932	D	0	-16.8555	14.2738	0.66167	1.0:0.0:0.0:0.0	.	85	Q92871	PMM1_HUMAN	D	85	ENSP00000216259:Y85D	ENSP00000216259:Y85D	Y	-	1	0	PMM1	40310506	1.000000	0.71417	1.000000	0.80357	0.470000	0.32858	9.116000	0.94341	1.778000	0.52293	0.455000	0.32223	TAT		0.542	PMM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320711.3	NM_002676		4	91	0	0	0	0.150653	0	4	91					C	41980560	A	C	41980560	3	2	78	1	0	0	0	0	1	0	0	0	12136	391	14	5	559	5	PMM1	22	41980560	Missense_Mutation	SNP	A	TCGA-EJ-7115-01A-11D-2114-08		41980560	9324006	52	4112											
PLXNB3	5365	broad.mit.edu	37	chrX	153039436	153039436	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aacgtgcaagtggacttcgcCagtgccagtgggggccaggg	8	6	17	10	2	0	0	0	0	0	0	1	1	0	1	3	4	3	1	3	4	2	1			TCGA-EJ-7115-01A-11D-2114-08	TCGA-EJ-7115-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67324969-d5d7-4ae7-b8f7-26b11d6c0439	6ee4d1f0-da1d-4650-9d06-7f1bc0b11407	g.chrX:153039436C>T	ENST00000361971.5	+	20	3516	c.3402C>T	c.(3400-3402)gcC>gcT	p.A1134A	PLXNB3_ENST00000538776.1_Silent_p.A787A|PLXNB3_ENST00000538966.1_Silent_p.A1157A|SRPK3_ENST00000489426.1_5'Flank|PLXNB3_ENST00000538282.1_Silent_p.A744A	NM_005393.2	NP_005384.2	Q9ULL4	PLXB3_HUMAN	plexin B3	1134	IPT/TIG 3.				axon guidance (GO:0007411)|cell chemotaxis (GO:0060326)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell migration (GO:0030336)|negative regulation of GTPase activity (GO:0034260)|negative regulation of lamellipodium assembly (GO:0010593)|positive chemotaxis (GO:0050918)|positive regulation of endothelial cell proliferation (GO:0001938)|semaphorin-plexin signaling pathway (GO:0071526)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	protein domain specific binding (GO:0019904)|semaphorin receptor activity (GO:0017154)			central_nervous_system(1)|endometrium(7)|large_intestine(2)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)					TGGACTTCGCCAGTGCCAGTG	0.692																																						ENST00000538966.1																			0				central_nervous_system(1)|endometrium(7)|large_intestine(2)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32						c.(3469-3471)gcC>gcT		plexin B3							42	43	42					X																	153039436		2200	4295	6495	SO:0001819	synonymous_variant	5365				axon guidance	integral to membrane|intracellular|plasma membrane	protein binding|receptor activity	g.chrX:153039436C>T	AF149019	CCDS14729.1, CCDS55536.1	Xq28	2008-02-05			ENSG00000198753	ENSG00000198753		"Plexins"	9105	protein-coding gene	gene with protein product		300214		PLXN6		10520995	Standard	NM_005393		Approved	PLEXR, PLEXB3	uc010nuk.2	Q9ULL4	OTTHUMG00000024217	ENST00000361971.5:c.3402C>T	X.37:g.153039436C>T						PLXNB3_ENST00000538282.1_Silent_p.A744A|PLXNB3_ENST00000361971.5_Silent_p.A1134A|PLXNB3_ENST00000538776.1_Silent_p.A787A	p.A1157A	NM_001163257.1	NP_001156729.1	Q9ULL4	PLXB3_HUMAN			21	3742	+	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)		1134					B7Z3E6|F5H773|Q9HDA4	Silent	SNP	ENST00000361971.5	37	c.3471C>T	CCDS14729.1																																																																																				0.692	PLXNB3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000061063.1			28	24	0	0	0	0.729181	0	28	24					T	153039436	C	T	153039436	2	4	78	1	0	0	0	0	0	0	0	1	12125	581	21	3		3	PLXNB3	23	153039436	Silent	SNP	C	TCGA-EJ-7115-01A-11D-2114-08		153039436	2231124	53	4113											
PRAMEF22	653606	broad.mit.edu	37	chr1	13036267	13036267	+	Frame_Shift_Del	DEL	T	T	-																															ttgcgggatgttgatgagaaTttttggaccatatggtctgg																										TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	a4dd9f7b-e2a7-40f3-8e19-667f7fd42150	g.chr1:13036267delT	ENST00000376187.1	+	2	339	c.339delT	c.(337-339)aatfs	p.N113fs	PRAMEF6_ENST00000376192.5_Intron	NM_001100631.1	NP_001094101.1	A3QJZ6	PRA22_HUMAN	PRAME family member 22	113					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)					kidney(1)|large_intestine(2)|lung(1)|skin(1)	5						TTGATGAGAATTTTTGGACCA	0.537																																						ENST00000376187.1																			0				kidney(1)|large_intestine(2)|lung(1)|skin(1)	5						c.(337-339)aafs		PRAME family member 22							6	11	10					1																	13036267		674	3028	3702	SO:0001589	frameshift_variant	653606							g.chr1:13036267delT			1p36.21	2013-01-17			ENSG00000204508			"-"	34393	protein-coding gene	gene with protein product							Standard	NM_001100631		Approved	PRAMEF3L	uc009vnq.1	A3QJZ6	OTTHUMG00000074726	ENST00000376187.1:c.339delT	1.37:g.13036267delT	ENSP00000365358:p.Asn113fs					PRAMEF6_ENST00000376192.5_Intron	p.N113fs	NM_001100631.1	NP_001094101.1	A3QJZ6	PRA22_HUMAN			2	339	+			113					A6NMM3	Frame_Shift_Del	DEL	ENST00000376187.1	37	c.339delT	CCDS41256.1																																																																																				0.537	PRAMEF22-001	KNOWN	mRNA_start_NF|mRNA_end_NF|cds_end_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000158511.1	NM_001100631		7	359						7	359	---	---	---	---	-	13036267	T	-	13036267	7	5	79	1	0	1	0	1	0	0	0	0	12436	1490	52	0	345	0	PRAMEF22	1	13036267	Frame_Shift_Del	DEL	T	TCGA-EJ-7123-01A-11D-1961-08		13036267	236214354	1	4114											
MAGOH	4116	broad.mit.edu	37	chr1	53692751	53692752	+	Frame_Shift_Del	DEL	AG	AG	-																															tcttgaagtgtaatccaataAgactgaagaccaaacacttc																										TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr1:53692751_53692752delAG	ENST00000371470.3	-	5	567_568	c.406_407delCT	c.(406-408)cttfs	p.L136fs	MAGOH_ENST00000371466.4_Frame_Shift_Del_p.L99fs|RP5-1024G6.7_ENST00000569869.1_RNA	NM_002370.3	NP_002361.1	P61326	MGN_HUMAN	mago-nashi homolog, proliferation-associated (Drosophila)	136					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|mRNA splicing, via spliceosome (GO:0000398)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	catalytic step 2 spliceosome (GO:0071013)|cytosol (GO:0005829)|exon-exon junction complex (GO:0035145)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			haematopoietic_and_lymphoid_tissue(1)|lung(4)|urinary_tract(1)	6						TAATCCAATAAGACTGAAGACC	0.376																																					Colon(150;521 2416 7674 18129)	ENST00000371470.3																			0				haematopoietic_and_lymphoid_tissue(1)|lung(4)|urinary_tract(1)	6						c.(406-408)tfs		mago-nashi homolog, proliferation-associated (Drosophila)																																				SO:0001589	frameshift_variant	4116				mRNA 3'-end processing|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translation|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytosol|exon-exon junction complex|nuclear speck	protein binding|RNA binding	g.chr1:53692751_53692752delAG	AF035940	CCDS577.1	1p32.3	2010-04-16	2001-11-28		ENSG00000162385	ENSG00000162385			6815	protein-coding gene	gene with protein product		602603	"mago-nashi (Drosophila) homolog, proliferation-associated"			9479507	Standard	NM_002370		Approved	MAGOHA, MAGOH1	uc001cvf.2	P61326	OTTHUMG00000008932	ENST00000371470.3:c.406_407delCT	1.37:g.53692751_53692752delAG	ENSP00000360525:p.Leu136fs					MAGOH_ENST00000371466.4_Frame_Shift_Del_p.L99fs	p.L136fs	NM_002370.3	NP_002361.1	P61326	MGN_HUMAN			5	567_568	-			136					B1ARP8|B2R5A2|O35169|P50606|Q5SW69	Frame_Shift_Del	DEL	ENST00000371470.3	37	c.406_407delCT	CCDS577.1																																																																																				0.376	MAGOH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024730.1	NM_002370		8	34						8	34	---	---	---	---	-	53692752	AG	-	53692751	7	5	79	1	0	1	0	1	0	0	0	0	9194	72	3	0	37	0	MAGOH	1	53692751	Frame_Shift_Del	DEL	AG	TCGA-EJ-7123-01A-11D-1961-08	40656484	53692751	195557870	2	4115											
HFM1	164045	broad.mit.edu	37	chr1	91851252	91851252	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atttgcagaatactgaaattTttgcttactattgctatagt	12	18	6	5	0	0	2	0	1	0	1	0	2	0	2	0	0	5	3	0	0	7	9			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr1:91851252T>C	ENST00000370425.3	-	5	732	c.634A>G	c.(634-636)Aaa>Gaa	p.K212E	HFM1_ENST00000294696.5_5'UTR|HFM1_ENST00000370424.3_Intron	NM_001017975.3	NP_001017975.3	A2PYH4	HFM1_HUMAN	HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae)	212					resolution of meiotic recombination intermediates (GO:0000712)		ATP binding (GO:0005524)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)			breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	75		all_lung(203;0.00961)|Lung NSC(277;0.0351)		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)		TACTGAAATTTTTGCTTACTA	0.343																																						ENST00000370425.3																			0				breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	75						c.(634-636)Aaa>Gaa		HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae)							97	92	94					1																	91851252		2203	4300	6503	SO:0001583	missense	164045						ATP binding|ATP-dependent helicase activity|nucleic acid binding	g.chr1:91851252T>C	AB204867	CCDS30769.2	1p22.2	2008-03-26			ENSG00000162669	ENSG00000162669			20193	protein-coding gene	gene with protein product		615684	"SEC63 domain containing 1"	SEC63D1		14702039, 17286053	Standard	XM_006710395		Approved	MER3, FLJ39011, FLJ36760	uc001doa.4	A2PYH4	OTTHUMG00000010093	ENST00000370425.3:c.634A>G	1.37:g.91851252T>C	ENSP00000359454:p.Lys212Glu					HFM1_ENST00000294696.5_5'UTR|HFM1_ENST00000370424.3_Intron	p.K212E	NM_001017975.3	NP_001017975.3	A2PYH4	HFM1_HUMAN		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)	5	732	-		all_lung(203;0.00961)|Lung NSC(277;0.0351)	212					B1B0B6|Q8N9Q0	Missense_Mutation	SNP	ENST00000370425.3	37	c.634A>G	CCDS30769.2	.	.	.	.	.	.	.	.	.	.	T	9.387	1.074579	0.20227	.	.	ENSG00000162669	ENST00000370425;ENST00000541820;ENST00000448819;ENST00000427444	T;T	0.60672	0.17;0.56	5.93	4.82	0.62117	.	1.807140	0.06235	U	0.689455	T	0.26629	0.0651	L	0.50333	1.59	0.20196	N	0.999928	P;P	0.48764	0.844;0.915	B;B	0.39465	0.23;0.3	T	0.16041	-1.0416	10	0.06365	T	0.9	.	8.1545	0.31160	0.0:0.1396:0.0:0.8604	.	212;212	B7ZM16;A2PYH4	.;HFM1_HUMAN	E	212;245;71;170	ENSP00000359454:K212E;ENSP00000388900:K170E	ENSP00000359454:K212E	K	-	1	0	HFM1	91623840	0.784000	0.28713	0.058000	0.19502	0.009000	0.06853	1.073000	0.30691	2.281000	0.76405	0.533000	0.62120	AAA		0.343	HFM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316716.2	NM_001017975		7	43	0	0	0	0.00307968	0	7	43					C	91851252	T	C	91851252	3	2	79	1	0	0	0	0	1	0	0	0	7083	1850	64	4	3813	4	HFM1	1	91851252	Missense_Mutation	SNP	T	TCGA-EJ-7123-01A-11D-1961-08	38158501	91851252	157399369	3	4116											
NBPF10	100132406	broad.mit.edu	37	chr1	145328417	145328417	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaagaagacgaagaccaagAcccaccatgccccaggtaac	16	2	10	13	1	0	4	0	0	0	4	0	6	0	5	5	2	2	1	5	2	5	1	rs587687982	byFrequency	TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr1:145328417A>G	ENST00000342960.5	+	33	4300	c.4265A>G	c.(4264-4266)gAc>gGc	p.D1422G	NBPF10_ENST00000369339.3_Intron|NBPF10_ENST00000369338.1_Intron	NM_001039703.4	NP_001034792.4	Q6P3W6	NBPFA_HUMAN	neuroblastoma breakpoint family, member 10	763						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		GAAGACCAAGACCCACCATGC	0.458													.|||	607	0.121206	0.1233	0.1744	5008	,	,		9720	0.1944		0.0636	False		,,,				2504	0.0644					ENST00000342960.5																			0				NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73						c.(4264-4266)gAc>gGc		neuroblastoma breakpoint family, member 10																																				SO:0001583	missense	100132406							g.chr1:145328417A>G	BC021111		1q21.1	2013-01-17			ENSG00000163386	ENSG00000271425		"neuroblastoma breakpoint family"	31992	protein-coding gene	gene with protein product		614000				16079250	Standard	NM_001039703		Approved	AG1		Q6P3W6	OTTHUMG00000013757	ENST00000342960.5:c.4265A>G	1.37:g.145328417A>G	ENSP00000345684:p.Asp1422Gly					NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.2_Intron	p.D1422G	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN		Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	33	4300	+	all_hematologic(923;0.032)		1422					Q5RHC0|Q9NWN6	Missense_Mutation	SNP	ENST00000342960.5	37	c.4265A>G	CCDS53355.1	.	.	.	.	.	.	.	.	.	.	.	0.015	-1.565282	0.00903	.	.	ENSG00000163386	ENST00000342960	T	0.05717	3.4	.	.	.	.	.	.	.	.	T	0.00666	0.0022	N	0.03115	-0.41	0.09310	N	1	.	.	.	.	.	.	T	0.46091	-0.9216	5	0.17369	T	0.5	.	.	.	.	.	.	.	.	G	1422	ENSP00000345684:D1422G	ENSP00000345684:D1422G	D	+	2	0	NBPF10	144039774	0.001000	0.12720	0.022000	0.16811	0.513000	0.34164	-0.743000	0.04845	0.000000	0.14550	0.000000	0.15137	GAC		0.458	NBPF10-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001039703		3	62	0	0	0	6.4e-05	0	3	62					G	145328417	A	G	145328417	3	3	79	1	0	0	0	0	1	0	0	0	10193	275	10	4	4395	4	NBPF10	1	145328417	Missense_Mutation	SNP	A	TCGA-EJ-7123-01A-11D-1961-08	53477165	145328417	103922204	4	4117											
GJA8	2703	broad.mit.edu	37	chr1	147380335	147380335	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggtgctgcagatcatcttcGtctccaccccgtccctgatg	5	11	10	15	2	3	2	1	1	2	1	6	2	4	2	4	1	2	2	4	1	0	1			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr1:147380335G>A	ENST00000369235.1	+	1	253	c.253G>A	c.(253-255)Gtc>Atc	p.V85I	GJA8_ENST00000240986.4_Missense_Mutation_p.V85I			P48165	CXA8_HUMAN	gap junction protein, alpha 8, 50kDa	85					cell-cell signaling (GO:0007267)|lens development in camera-type eye (GO:0002088)|protein homooligomerization (GO:0051260)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	connexon complex (GO:0005922)|integral component of plasma membrane (GO:0005887)	channel activity (GO:0015267)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)	37	all_hematologic(923;0.0276)					GATCATCTTCGTCTCCACCCC	0.637																																					Melanoma(76;1255 1795 8195 52096)	ENST00000240986.4																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)	37						c.(253-255)Gtc>Atc		gap junction protein, alpha 8, 50kDa							138	107	118					1																	147380335		2203	4300	6503	SO:0001583	missense	2703				cell communication|visual perception	connexon complex|integral to plasma membrane	channel activity	g.chr1:147380335G>A	U34802	CCDS30834.1	1q21.1	2008-02-05	2007-01-16		ENSG00000121634	ENSG00000121634		"Ion channels / Gap junction proteins (connexins)"	4281	protein-coding gene	gene with protein product	"connexin 50"	600897	"gap junction protein, alpha 8, 50kD (connexin 50)", "gap junction protein, alpha 8, 50kDa (connexin 50)"	CAE1, CZP1, CAE		9497259, 7796604	Standard	NM_005267		Approved	CX50	uc001epu.2	P48165	OTTHUMG00000024085	ENST00000369235.1:c.253G>A	1.37:g.147380335G>A	ENSP00000358238:p.Val85Ile					GJA8_ENST00000369235.1_Missense_Mutation_p.V85I	p.V85I	NM_005267.4	NP_005258.2	P48165	CXA8_HUMAN			2	306	+	all_hematologic(923;0.0276)		85					A7L5M5|Q5VVN9|Q9NP25	Missense_Mutation	SNP	ENST00000369235.1	37	c.253G>A	CCDS30834.1	.	.	.	.	.	.	.	.	.	.	g	23.7	4.446399	0.84101	.	.	ENSG00000121634	ENST00000240986;ENST00000369235	D;D	0.99298	-5.71;-5.71	5.2	4.26	0.50523	Connexin, N-terminal (1);	0.207319	0.40640	N	0.001047	D	0.99177	0.9715	M	0.80616	2.505	0.47905	D	0.999549	D	0.89917	1.0	D	0.69654	0.965	D	0.99282	1.0896	10	0.87932	D	0	.	12.8855	0.58040	0.0827:0.0:0.9173:0.0	.	85	P48165	CXA8_HUMAN	I	85	ENSP00000240986:V85I;ENSP00000358238:V85I	ENSP00000240986:V85I	V	+	1	0	GJA8	145846959	1.000000	0.71417	0.989000	0.46669	0.989000	0.77384	5.732000	0.68563	1.109000	0.41680	0.491000	0.48974	GTC		0.637	GJA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060647.1	NM_005267		10	80	0	0	0	0.00136819	0	10	80					A	147380335	G	A	147380335	3	1	79	1	0	0	0	0	1	0	0	0	6405	1145	40	1	255	1	GJA8	1	147380335	Missense_Mutation	SNP	G	TCGA-EJ-7123-01A-11D-1961-08	2051918	147380335	101870286	5	4118											
FCRL3	115352	broad.mit.edu	37	chr1	157648602	157648602	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctagcctcccctgcagagtcGtctgggtgtgtcttcttcag	4	13	11	13	1	4	1	1	0	3	1	6	1	5	1	3	1	2	1	3	1	1	3	rs148976786	byFrequency	TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr1:157648602G>A	ENST00000368184.3	-	15	2394	c.2103C>T	c.(2101-2103)gaC>gaT	p.D701D	FCRL3_ENST00000368186.5_Silent_p.D701D|FCRL3_ENST00000473231.1_5'UTR	NM_052939.3	NP_443171.2	Q96P31	FCRL3_HUMAN	Fc receptor-like 3	701						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(1)|large_intestine(13)|lung(31)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)	69	all_hematologic(112;0.0378)					CTGCAGAGTCGTCTGGGTGTG	0.468													A|||	11	0.00219649	0.0083	0	5008	,	,		20558	0		0	False		,,,				2504	0					ENST00000368184.3																			0				autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(1)|large_intestine(13)|lung(31)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)	69						c.(2101-2103)gaC>gaT		Fc receptor-like 3		A		23,4383	824.2+/-416.5	0,23,2180	117	105	109		2103	-1.3	0	1	dbSNP_134	109	0,8600		0,0,4300	no	coding-synonymous	FCRL3	NM_052939.3		0,23,6480	AA,AG,GG		0.0,0.522,0.1768		701/735	157648602	23,12983	2203	4300	6503	SO:0001819	synonymous_variant	115352					integral to membrane|plasma membrane	receptor activity	g.chr1:157648602G>A	AF459027	CCDS1167.1	1q21-q22	2013-01-11			ENSG00000160856	ENSG00000160856		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	18506	protein-coding gene	gene with protein product		606510				11493702, 12014205	Standard	XR_241065		Approved	FCRH3, IRTA3, IFGP3, SPAP2a, SPAP2, SPAP2b, SPAP2c, SPAP2d, SPAP2e, CD307c	uc001frb.3	Q96P31	OTTHUMG00000019400	ENST00000368184.3:c.2103C>T	1.37:g.157648602G>A						FCRL3_ENST00000473231.1_5'UTR|FCRL3_ENST00000368186.5_Silent_p.D701D	p.D701D	NM_052939.3	NP_443171.2	Q96P31	FCRL3_HUMAN			15	2394	-	all_hematologic(112;0.0378)		701					A0N0M4|A8MTH7|D3DVD2|Q5VXZ8|Q8N6S2|Q96LA4|Q96P27|Q96P28|Q96P29|Q96P30	Silent	SNP	ENST00000368184.3	37	c.2103C>T	CCDS1167.1																																																																																				0.468	FCRL3-006	NOVEL	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051419.2	NM_052939		8	51	0	0	0	0.00307968	0	8	51					A	157648602	G	A	157648602	2	1	79	1	0	0	0	0	0	0	0	1	5796	1136	40	1		1	FCRL3	1	157648602	Silent	SNP	G	TCGA-EJ-7123-01A-11D-1961-08	10268267	157648602	91602019	6	4119											
CD46	4179	broad.mit.edu	37	chr1	207940420	207940420	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tatcaggatttggaaaaaaaTtttactacaaagcaacagtt	18	12	6	5	0	1	0	1	0	0	0	1	2	1	2	0	2	4	2	0	2	8	6			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr1:207940420T>A	ENST00000358170.2	+	6	892	c.736T>A	c.(736-738)Ttt>Att	p.F246I	CD46_ENST00000357714.1_Missense_Mutation_p.F246I|CD46_ENST00000367041.1_Missense_Mutation_p.F246I|CD46_ENST00000322875.4_Missense_Mutation_p.F246I|CD46_ENST00000361067.1_Missense_Mutation_p.F246I|CD46_ENST00000367042.1_Missense_Mutation_p.F246I|CD46_ENST00000441839.2_Missense_Mutation_p.F246I|CD46_ENST00000367047.1_Missense_Mutation_p.F183I|CD46_ENST00000354848.1_Missense_Mutation_p.F246I|CD46_ENST00000469535.1_3'UTR|CD46_ENST00000322918.5_Missense_Mutation_p.F246I|CD46_ENST00000480003.1_Missense_Mutation_p.F246I|CD46_ENST00000360212.2_Missense_Mutation_p.F246I	NM_002389.4	NP_002380.3	P15529	MCP_HUMAN	CD46 molecule, complement regulatory protein	246	Sushi 4. {ECO:0000255|PROSITE- ProRule:PRU00302}.				adaptive immune response (GO:0002250)|complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)|interleukin-10 production (GO:0032613)|negative regulation of complement activation (GO:0045916)|negative regulation of gene expression (GO:0010629)|positive regulation of gene expression (GO:0010628)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of memory T cell differentiation (GO:0043382)|positive regulation of regulatory T cell differentiation (GO:0045591)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of transforming growth factor beta production (GO:0071636)|proteolysis (GO:0006508)|regulation of complement activation (GO:0030449)|regulation of Notch signaling pathway (GO:0008593)|sequestering of extracellular ligand from receptor (GO:0035581)|single fertilization (GO:0007338)|T cell mediated immunity (GO:0002456)|viral process (GO:0016032)	basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|inner acrosomal membrane (GO:0002079)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cadherin binding (GO:0045296)|receptor activity (GO:0004872)			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(6)|prostate(1)|skin(1)	19						TGGAAAAAAATTTTACTACAA	0.378																																						ENST00000358170.2																			0				breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(6)|prostate(1)|skin(1)	19						c.(736-738)Ttt>Att		CD46 molecule, complement regulatory protein							71	72	72					1																	207940420		2203	4300	6503	SO:0001583	missense	4179				complement activation, classical pathway|innate immune response|interspecies interaction between organisms|single fertilization	inner acrosomal membrane|integral to plasma membrane	protein binding|receptor activity	g.chr1:207940420T>A	BC030594	CCDS1479.1, CCDS1480.1, CCDS1481.1, CCDS1482.1, CCDS1484.1, CCDS1485.1, CCDS31008.1, CCDS31009.1	1q32	2014-09-17	2006-03-28	2006-02-09	ENSG00000117335	ENSG00000117335		"CD molecules", "Complement system"	6953	protein-coding gene	gene with protein product		120920	"antigen identified by monoclonal antibody TRA-2-10", "membrane cofactor protein (CD46, trophoblast-lymphocyte cross-reactive antigen)", "CD46 antigen, complement regulatory protein"	MIC10, MCP		7929741	Standard	NM_002389		Approved	TRA2.10, MGC26544, TLX	uc001hgj.3	P15529	OTTHUMG00000036397	ENST00000358170.2:c.736T>A	1.37:g.207940420T>A	ENSP00000350893:p.Phe246Ile					CD46_ENST00000367041.1_Missense_Mutation_p.F246I|CD46_ENST00000361067.1_Missense_Mutation_p.F246I|CD46_ENST00000322875.4_Missense_Mutation_p.F246I|CD46_ENST00000354848.1_Missense_Mutation_p.F246I|CD46_ENST00000469535.1_3'UTR|CD46_ENST00000322918.5_Missense_Mutation_p.F246I|CD46_ENST00000367047.1_Missense_Mutation_p.F183I|CD46_ENST00000367042.1_Missense_Mutation_p.F246I|CD46_ENST00000441839.2_Missense_Mutation_p.F246I|CD46_ENST00000357714.1_Missense_Mutation_p.F246I|CD46_ENST00000360212.2_Missense_Mutation_p.F246I|CD46_ENST00000480003.1_Missense_Mutation_p.F246I	p.F246I	NM_002389.4	NP_002380.3	P15529	MCP_HUMAN			6	892	+			246			Sushi 4.		A0T1T0|A0T1T1|A0T1T2|Q15429|Q53GV9|Q5HY94|Q5VWS6|Q5VWS7|Q5VWS8|Q5VWS9|Q5VWT0|Q5VWT1|Q5VWT2|Q6N0A1|Q7Z3R5|Q9NNW2|Q9NNW3|Q9NNW4|Q9UCJ4	Missense_Mutation	SNP	ENST00000358170.2	37	c.736T>A	CCDS1485.1	.	.	.	.	.	.	.	.	.	.	T	19.99	3.928559	0.73327	.	.	ENSG00000117335	ENST00000358170;ENST00000354848;ENST00000322918;ENST00000367042;ENST00000367041;ENST00000357714;ENST00000322875;ENST00000367047;ENST00000441839;ENST00000361067;ENST00000360212;ENST00000480003	T;T;T;T;T;T;T;T;T;T;T;T	0.69561	-0.41;-0.41;-0.41;-0.41;-0.41;-0.41;-0.41;-0.41;-0.41;-0.41;-0.41;-0.41	5.14	2.87	0.33458	Complement control module (2);Sushi/SCR/CCP (3);	1.180340	0.06338	N	0.707414	D	0.82701	0.5094	M	0.86502	2.82	0.09310	N	1	D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.89917	0.999;0.998;1.0;0.999;0.998;0.997;0.999;1.0;0.999;1.0;0.999;0.996;0.996;0.998	D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.91635	0.99;0.958;0.977;0.985;0.942;0.991;0.99;0.986;0.985;0.999;0.985;0.987;0.987;0.995	T	0.60177	-0.7314	10	0.87932	D	0	.	5.9807	0.19405	0.0:0.1973:0.0:0.8027	.	246;246;246;246;246;246;246;246;246;246;246;246;246;246	P15529-4;P15529-5;P15529-14;P15529-3;P15529-12;P15529-13;P15529-2;P15529-11;P15529-7;P15529-9;P15529-15;P15529-6;P15529-8;P15529	.;.;.;.;.;.;.;.;.;.;.;.;.;MCP_HUMAN	I	246;246;246;246;246;246;246;183;246;246;246;246	ENSP00000350893:F246I;ENSP00000346912:F246I;ENSP00000314664:F246I;ENSP00000356009:F246I;ENSP00000356008:F246I;ENSP00000350346:F246I;ENSP00000313875:F246I;ENSP00000356014:F183I;ENSP00000413543:F246I;ENSP00000354358:F246I;ENSP00000353342:F246I;ENSP00000418471:F246I	ENSP00000313875:F246I	F	+	1	0	CD46	206007043	0.001000	0.12720	0.001000	0.08648	0.287000	0.27160	0.935000	0.28924	1.089000	0.41292	0.533000	0.62120	TTT		0.378	CD46-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000088588.3	NM_172361		10	45	0	0	0	0.000673444	0	10	45					A	207940420	T	A	207940420	3	1	79	1	0	0	0	0	1	0	0	0	3018	1493	52	5	758	5	CD46	1	207940420	Missense_Mutation	SNP	T	TCGA-EJ-7123-01A-11D-1961-08	50291818	207940420	41310201	7	4120											
LONRF2	164832	broad.mit.edu	37	chr2	100916210	100916210	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	atttttccaggggcgttcagGtcaggtgcatcctccacgtc	6	12	11	12	2	2	0	2	0	0	0	6	0	5	0	3	4	1	2	3	4	0	3			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr2:100916210G>C	ENST00000393437.3	-	5	1875	c.1236C>G	c.(1234-1236)gaC>gaG	p.D412E	LONRF2_ENST00000409647.1_Missense_Mutation_p.D169E	NM_198461.3	NP_940863.3	Q1L5Z9	LONF2_HUMAN	LON peptidase N-terminal domain and ring finger 2	412							ATP-dependent peptidase activity (GO:0004176)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	34						GGGCGTTCAGGTCAGGTGCAT	0.448																																						ENST00000393437.3																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	34						c.(1234-1236)gaC>gaG		LON peptidase N-terminal domain and ring finger 2							87	85	86					2																	100916210		2203	4300	6503	SO:0001583	missense	164832				proteolysis		ATP-dependent peptidase activity|zinc ion binding	g.chr2:100916210G>C	AK127206	CCDS2046.2	2q11.2	2013-01-09			ENSG00000170500	ENSG00000170500		"RING-type (C3HC4) zinc fingers"	24788	protein-coding gene	gene with protein product							Standard	NM_198461		Approved	FLJ45273, RNF192	uc002tal.4	Q1L5Z9	OTTHUMG00000130668	ENST00000393437.3:c.1236C>G	2.37:g.100916210G>C	ENSP00000377086:p.Asp412Glu					LONRF2_ENST00000409647.1_Missense_Mutation_p.D169E	p.D412E	NM_198461.3	NP_940863.3	Q1L5Z9	LONF2_HUMAN			5	1875	-			412					B9A006|Q6ZSR4	Missense_Mutation	SNP	ENST00000393437.3	37	c.1236C>G	CCDS2046.2	.	.	.	.	.	.	.	.	.	.	G	7.285	0.609926	0.14066	.	.	ENSG00000170500	ENST00000393437;ENST00000409647	D;D	0.84730	-1.7;-1.89	4.49	-1.58	0.08479	.	1.404240	0.04235	N	0.335975	T	0.75102	0.3804	L	0.47716	1.5	0.09310	N	1	B	0.25563	0.129	B	0.20184	0.028	T	0.58200	-0.7678	10	0.02654	T	1	-12.1851	5.5035	0.16840	0.3434:0.0:0.4834:0.1731	.	412	Q1L5Z9	LONF2_HUMAN	E	412;169	ENSP00000377086:D412E;ENSP00000386823:D169E	ENSP00000377086:D412E	D	-	3	2	LONRF2	100282642	0.000000	0.05858	0.000000	0.03702	0.414000	0.31173	-0.298000	0.08265	-0.227000	0.09884	0.555000	0.69702	GAC		0.448	LONRF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253161.2	NM_198461		9	94	0	0	0	0.000673444	0	9	94					C	100916210	G	C	100916210	3	2	79	1	0	0	0	0	1	0	0	0	8895	1252	44	5	1060	5	LONRF2	2	100916210	Missense_Mutation	SNP	G	TCGA-EJ-7123-01A-11D-1961-08		100916210	142283163	8	4121											
WDR33	55339	broad.mit.edu	37	chr2	128474753	128474753	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gttggggccaggtccttgtcCggggttcagagggggaatgc	5	9	19	8	1	1	1	1	0	0	1	3	2	3	2	3	7	1	2	3	7	1	3			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr2:128474753C>T	ENST00000322313.4	-	17	3003	c.2845G>A	c.(2845-2847)Gga>Aga	p.G949R		NM_018383.4	NP_060853.3	Q9C0J8	WDR33_HUMAN	WD repeat domain 33	949					mRNA processing (GO:0006397)|postreplication repair (GO:0006301)|spermatogenesis (GO:0007283)	collagen trimer (GO:0005581)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0695)		GGTCCTTGTCCGGGGTTCAGA	0.478																																						ENST00000322313.4																			0				NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39						c.(2845-2847)Gga>Aga		WD repeat domain 33							41	39	40					2																	128474753		2203	4300	6503	SO:0001583	missense	55339				postreplication repair|spermatogenesis	collagen|nucleus	protein binding	g.chr2:128474753C>T		CCDS2150.1, CCDS42746.1, CCDS46407.1	2q21.1	2013-01-09			ENSG00000136709	ENSG00000136709		"WD repeat domain containing"	25651	protein-coding gene	gene with protein product						11162572	Standard	NM_001006622		Approved	FLJ11294, WDC146, NET14	uc002tpg.2	Q9C0J8	OTTHUMG00000131534	ENST00000322313.4:c.2845G>A	2.37:g.128474753C>T	ENSP00000325377:p.Gly949Arg						p.G949R	NM_018383.4	NP_060853.3	Q9C0J8	WDR33_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0695)	17	3003	-	Colorectal(110;0.1)		949					Q05DP8|Q53FG9|Q587J1|Q69YF7|Q6NUQ0|Q9NUL1	Missense_Mutation	SNP	ENST00000322313.4	37	c.2845G>A	CCDS2150.1	.	.	.	.	.	.	.	.	.	.	C	17.44	3.390292	0.62066	.	.	ENSG00000136709	ENST00000322313	D	0.89617	-2.54	5.27	5.27	0.74061	.	0.000000	0.56097	D	0.000024	D	0.86768	0.6012	N	0.08118	0	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.83639	0.0149	10	0.13853	T	0.58	-10.4583	14.3903	0.66973	0.0:1.0:0.0:0.0	.	949	Q9C0J8	WDR33_HUMAN	R	949	ENSP00000325377:G949R	ENSP00000325377:G949R	G	-	1	0	WDR33	128191223	0.999000	0.42202	1.000000	0.80357	0.966000	0.64601	3.549000	0.53681	2.473000	0.83533	0.563000	0.77884	GGA		0.478	WDR33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331141.2	NM_018383		3	19	0	0	0	6.4e-05	0	3	19					T	128474753	C	T	128474753	3	4	79	1	0	0	0	0	1	0	0	0	17284	661	23	2	1189	2	WDR33	2	128474753	Missense_Mutation	SNP	C	TCGA-EJ-7123-01A-11D-1961-08	27558543	128474753	114724620	9	4122											
DNAH7	56171	broad.mit.edu	37	chr2	196737068	196737068	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgacacgggagaaatcacggAggttgaacaagtagtgagat	15	7	14	5	2	1	4	1	3	0	2	1	7	1	5	0	3	1	2	0	3	4	2			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr2:196737068A>C	ENST00000312428.6	-	40	6639	c.6539T>G	c.(6538-6540)cTc>cGc	p.L2180R		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	2180	AAA 3. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)	axonemal dynein complex (GO:0005858)|cilium (GO:0005929)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|microtubule motor activity (GO:0003777)			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						GAAATCACGGAGGTTGAACAA	0.398																																						ENST00000312428.6																			0				NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						c.(6538-6540)cTc>cGc		dynein, axonemal, heavy chain 7							169	156	160					2																	196737068		1863	4099	5962	SO:0001583	missense	56171				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr2:196737068A>C	AF327442	CCDS42794.1	2q33.1	2013-01-10	2006-09-04		ENSG00000118997	ENSG00000118997		"Axonemal dyneins", "EF-hand domain containing"	18661	protein-coding gene	gene with protein product		610061	"dynein, axonemal, heavy polypeptide 7"			9373155, 11877439	Standard	NM_018897		Approved	KIAA0944	uc002utj.4	Q8WXX0	OTTHUMG00000154438	ENST00000312428.6:c.6539T>G	2.37:g.196737068A>C	ENSP00000311273:p.Leu2180Arg						p.L2180R	NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN			40	6639	-			2180			AAA 3 (By similarity).		B8ZZX8|O00433|O95492|Q4G152|Q53QX7|Q53S64|Q53T02|Q68CY5|Q8N1Z2|Q9UMS3|Q9Y2F3	Missense_Mutation	SNP	ENST00000312428.6	37	c.6539T>G	CCDS42794.1	.	.	.	.	.	.	.	.	.	.	A	22.8	4.339614	0.81911	.	.	ENSG00000118997	ENST00000312428	T	0.53423	0.62	4.53	4.53	0.55603	.	0.000000	0.85682	D	0.000000	T	0.82263	0.4999	H	0.99626	4.665	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.89953	0.4081	10	0.87932	D	0	.	13.973	0.64252	1.0:0.0:0.0:0.0	.	2180	Q8WXX0	DYH7_HUMAN	R	2180	ENSP00000311273:L2180R	ENSP00000311273:L2180R	L	-	2	0	DNAH7	196445313	1.000000	0.71417	0.999000	0.59377	0.992000	0.81027	9.010000	0.93611	2.029000	0.59856	0.528000	0.53228	CTC		0.398	DNAH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335202.3	NM_018897		3	96	0	0	0	6.4e-05	0	3	96					C	196737068	A	C	196737068	3	2	79	1	0	0	0	0	1	0	0	0	4606	304	11	5	5639	5	DNAH7	2	196737068	Missense_Mutation	SNP	A	TCGA-EJ-7123-01A-11D-1961-08	68262315	196737068	46462305	10	4123											
MRPS25	64432	broad.mit.edu	37	chr3	15094107	15094108	+	Frame_Shift_Ins	INS	-	-	T																															tggctgggtgagaaagctgcINStttttctcctcctcctcttc																										TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr3:15094107_15094108insT	ENST00000253686.2	-	4	502_503	c.362_363insA	c.(361-363)aagfs	p.K121fs	MRPS25_ENST00000444840.2_Frame_Shift_Ins_p.S92fs|MRPS25_ENST00000496484.1_5'Flank|MRPS25_ENST00000449354.2_Intron	NM_022497.3	NP_071942.1	P82663	RT25_HUMAN	mitochondrial ribosomal protein S25	121						mitochondrion (GO:0005739)|ribosome (GO:0005840)				large_intestine(1)|lung(1)	2						GAGAAAGCTGCTTTTTCTCCTC	0.579																																						ENST00000253686.2																			0				large_intestine(1)|lung(1)	2						c.(361-363)acafs		mitochondrial ribosomal protein S25																																				SO:0001589	frameshift_variant	64432				translation	mitochondrial small ribosomal subunit	protein binding|structural constituent of ribosome	g.chr3:15094107_15094108insT	AB061208	CCDS2622.1	3p25	2012-09-13			ENSG00000131368	ENSG00000131368		"Mitochondrial ribosomal proteins / small subunits"	14511	protein-coding gene	gene with protein product	"mitochondrial 28S ribosomal protein S25"	611987				11279123	Standard	NM_022497		Approved	MRP-S25, FLJ00023, DKFZp313H0817, RPMS25	uc003bzl.3	P82663	OTTHUMG00000129836	ENST00000253686.2:c.363dupA	3.37:g.15094112_15094112dupT	ENSP00000253686:p.Lys121fs					MRPS25_ENST00000449354.2_Intron|MRPS25_ENST00000444840.2_Frame_Shift_Ins_p.Q92fs	p.T121fs	NM_022497.3	NP_071942.1	P82663	RT25_HUMAN			4	502_503	-			121					B4DFJ5|B4DQG6|Q9H7P5	Frame_Shift_Ins	INS	ENST00000253686.2	37	c.362_363insA	CCDS2622.1																																																																																				0.579	MRPS25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252076.2	NM_022497		16	261						16	261	---	---	---	---	T	15094108	-	T	15094107	7	5	79	1	0	1	1	0	0	0	0	0	9836	796	28	0	162	0	MRPS25	3	15094107	Frame_Shift_Ins	INS	-	TCGA-EJ-7123-01A-11D-1961-08		15094107	182928323	11	4124											
OXSR1	9943	broad.mit.edu	37	chr3	38292947	38292947	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctgctggcctggtcgacggaAgggatttagtaataggtaac	10	10	14	7	2	0	0	0	0	0	0	1	3	0	2	1	5	2	3	1	5	5	5			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr3:38292947A>G	ENST00000311806.3	+	16	1801	c.1429A>G	c.(1429-1431)Agg>Ggg	p.R477G		NM_005109.2	NP_005100.1			oxidative stress responsive 1											skin(1)	1				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)		GGTCGACGGAAGGGATTTAGT	0.458																																						ENST00000311806.3																			0				skin(1)	1						c.(1429-1431)Agg>Ggg		oxidative stress responsive 1							299	271	280					3																	38292947		2203	4300	6503	SO:0001583	missense	9943				intracellular protein kinase cascade|response to oxidative stress		ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr3:38292947A>G	AB017642	CCDS2675.1	3p22.2	2013-05-17	2013-05-17	2004-11-26	ENSG00000172939	ENSG00000172939			8508	protein-coding gene	gene with protein product		604046	"oxidative-stress responsive 1"	OSR1		10083736	Standard	XM_005265638		Approved	KIAA1101	uc003chy.3	O95747	OTTHUMG00000131084	ENST00000311806.3:c.1429A>G	3.37:g.38292947A>G	ENSP00000311713:p.Arg477Gly						p.R477G	NM_005109.2	NP_005100.1	O95747	OXSR1_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)	16	1801	+			477						Missense_Mutation	SNP	ENST00000311806.3	37	c.1429A>G	CCDS2675.1	.	.	.	.	.	.	.	.	.	.	A	15.51	2.854670	0.51376	.	.	ENSG00000172939	ENST00000311806	T	0.72282	-0.64	5.61	3.01	0.34805	.	0.040777	0.85682	D	0.000000	T	0.61286	0.2335	L	0.39898	1.24	0.58432	D	0.999999	B	0.30326	0.276	B	0.35278	0.199	T	0.56414	-0.7983	10	0.30078	T	0.28	-17.177	10.6357	0.45563	0.6924:0.3075:0.0:0.0	.	477	O95747	OXSR1_HUMAN	G	477	ENSP00000311713:R477G	ENSP00000311713:R477G	R	+	1	2	OXSR1	38267951	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.447000	0.44917	1.025000	0.39708	0.528000	0.53228	AGG		0.458	OXSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253744.1	NM_005109		6	230	0	0	0	0.00198382	0	6	230					G	38292947	A	G	38292947	3	3	79	1	0	0	0	0	1	0	0	0	11336	63	3	4	1491	4	OXSR1	3	38292947	Missense_Mutation	SNP	A	TCGA-EJ-7123-01A-11D-1961-08	23198840	38292947	159729483	12	4125											
CP	1356	broad.mit.edu	37	chr3	148896263	148896263	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttactttctcggggtgatcAgagtatgttttgatgttgtc	6	19	11	5	1	2	3	1	2	1	1	4	3	2	3	0	2	1	3	0	2	2	7			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr3:148896263A>G	ENST00000264613.6	-	16	3079	c.2817T>C	c.(2815-2817)tcT>tcC	p.S939S		NM_000096.3	NP_000087	P00450	CERU_HUMAN	ceruloplasmin (ferroxidase)	939	F5/8 type A 3.|Plastocyanin-like 6.				cellular iron ion homeostasis (GO:0006879)|copper ion transport (GO:0006825)|transmembrane transport (GO:0055085)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)	chaperone binding (GO:0051087)|copper ion binding (GO:0005507)|ferroxidase activity (GO:0004322)			breast(6)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		Prostate(884;0.00217)|Hepatocellular(537;0.00826)|Myeloproliferative disorder(1037;0.0122)|all_neural(597;0.0189)|Melanoma(1037;0.152)	LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)		Drotrecogin alfa(DB00055)	CGGGGTGATCAGAGTATGTTT	0.323																																						ENST00000264613.6																			0				breast(6)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						c.(2815-2817)tcT>tcC		ceruloplasmin (ferroxidase)	Drotrecogin alfa(DB00055)						130	121	124					3																	148896263		2203	4300	6503	SO:0001819	synonymous_variant	1356				cellular iron ion homeostasis|copper ion transport|transmembrane transport	extracellular space	chaperone binding|ferroxidase activity	g.chr3:148896263A>G	M13536	CCDS3141.1	3q23-q25	2010-07-01			ENSG00000047457	ENSG00000047457	1.16.3.1		2295	protein-coding gene	gene with protein product		117700					Standard	NM_000096		Approved		uc003ewy.4	P00450	OTTHUMG00000159563	ENST00000264613.6:c.2817T>C	3.37:g.148896263A>G							p.S939S	NM_000096.3	NP_000087.1	P00450	CERU_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)		16	3079	-		Prostate(884;0.00217)|Hepatocellular(537;0.00826)|Myeloproliferative disorder(1037;0.0122)|all_neural(597;0.0189)|Melanoma(1037;0.152)	939			F5/8 type A 3.|Plastocyanin-like 6.		Q14063|Q2PP18|Q9UKS4	Silent	SNP	ENST00000264613.6	37	c.2817T>C	CCDS3141.1																																																																																				0.323	CP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317498.1	NM_000096		6	94	0	0	0	0.00198382	0	6	94					G	148896263	A	G	148896263	2	3	79	1	0	0	0	0	0	0	0	1	3787	175	7	4		4	CP	3	148896263	Silent	SNP	A	TCGA-EJ-7123-01A-11D-1961-08	110603316	148896263	49126167	13	4126											
P2RY14	9934	broad.mit.edu	37	chr3	150931786	150931786	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccaaagaacacaatgctgaCgtacatgttgacgtagaaga	16	7	9	9	2	0	5	0	2	0	3	0	5	0	5	1	0	3	4	1	0	6	3			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr3:150931786C>T	ENST00000309170.3	-	3	631	c.319G>A	c.(319-321)Gtc>Atc	p.V107I	MED12L_ENST00000474524.1_Intron|P2RY14_ENST00000424796.2_Missense_Mutation_p.V107I|MED12L_ENST00000273432.4_Intron	NM_001081455.1|NM_014879.3	NP_001074924.1|NP_055694.3	Q15391	P2Y14_HUMAN	purinergic receptor P2Y, G-protein coupled, 14	107					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled purinergic nucleotide receptor activity (GO:0045028)|UDP-activated nucleotide receptor activity (GO:0045029)			breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(1)	20			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			ACAATGCTGACGTACATGTTG	0.453																																						ENST00000309170.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(1)	20						c.(319-321)Gtc>Atc		purinergic receptor P2Y, G-protein coupled, 14							74	64	67					3																	150931786		2203	4300	6503	SO:0001583	missense	9934					integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled|UDP-activated nucleotide receptor activity	g.chr3:150931786C>T	D13626	CCDS3156.1	3q21-q25	2012-08-08	2004-07-12	2004-07-14	ENSG00000174944	ENSG00000174944		"Purinergic receptors", "GPCR / Class A : Purinergic receptors, P2Y"	16442	protein-coding gene	gene with protein product		610116	"G protein-coupled receptor 105"	GPR105			Standard	NM_014879		Approved	KIAA0001	uc003eys.1	Q15391	OTTHUMG00000159859	ENST00000309170.3:c.319G>A	3.37:g.150931786C>T	ENSP00000308361:p.Val107Ile					MED12L_ENST00000273432.4_Intron|P2RY14_ENST00000424796.2_Missense_Mutation_p.V107I|MED12L_ENST00000474524.1_Intron	p.V107I	NM_001081455.1|NM_014879.3	NP_001074924.1|NP_055694.3	Q15391	P2Y14_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)		3	631	-			107					Q8IYT7	Missense_Mutation	SNP	ENST00000309170.3	37	c.319G>A	CCDS3156.1	.	.	.	.	.	.	.	.	.	.	C	5.579	0.291672	0.10567	.	.	ENSG00000174944	ENST00000309170;ENST00000424796	T;T	0.72725	-0.68;-0.68	5.8	4.92	0.64577	GPCR, rhodopsin-like superfamily (1);	0.093881	0.42821	D	0.000657	T	0.41926	0.1180	N	0.03224	-0.385	0.31518	N	0.662732	B	0.27068	0.167	B	0.17722	0.019	T	0.43442	-0.9391	10	0.48119	T	0.1	-40.3576	5.5463	0.17065	0.0:0.7385:0.0:0.2615	.	107	Q15391	P2Y14_HUMAN	I	107	ENSP00000308361:V107I;ENSP00000408733:V107I	ENSP00000308361:V107I	V	-	1	0	P2RY14	152414476	0.171000	0.23029	0.984000	0.44739	0.976000	0.68499	1.005000	0.29834	2.732000	0.93576	0.650000	0.86243	GTC		0.453	P2RY14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357789.1	NM_014879		8	39	0	0	0	0.000274275	0	8	39					T	150931786	C	T	150931786	3	4	79	1	0	0	0	0	1	0	0	0	11351	536	19	1	701	1	P2RY14	3	150931786	Missense_Mutation	SNP	C	TCGA-EJ-7123-01A-11D-1961-08	2035523	150931786	47090644	14	4127											
CRMP1	1400	broad.mit.edu	37	chr4	5862782	5862782	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggtcccgcccaccagtgccGccctggtcccttggaagaag	6	7	12	16	2	0	1	0	0	0	1	2	2	2	2	6	3	1	0	6	3	2	1			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr4:5862782G>A	ENST00000397890.2	-	3	498	c.284C>T	c.(283-285)gCg>gTg	p.A95V	CRMP1_ENST00000324989.7_Missense_Mutation_p.A209V|CRMP1_ENST00000511535.1_5'UTR|CRMP1_ENST00000512574.1_Missense_Mutation_p.A93V	NM_001313.3	NP_001304.1	Q14194	DPYL1_HUMAN	collapsin response mediator protein 1	95					axon guidance (GO:0007411)|nervous system development (GO:0007399)|nucleobase-containing compound metabolic process (GO:0006139)|pyrimidine nucleobase catabolic process (GO:0006208)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides (GO:0016812)			NS(1)|cervix(2)|endometrium(4)|large_intestine(10)|lung(11)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	36				Colorectal(103;0.0721)		CACCAGTGCCGCCCTGGTCCC	0.582																																						ENST00000324989.7																			0				NS(1)|cervix(2)|endometrium(4)|large_intestine(10)|lung(11)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	36						c.(625-627)gCg>gTg		collapsin response mediator protein 1							95	89	91					4																	5862782		2203	4300	6503	SO:0001583	missense	1400				axon guidance|pyrimidine base catabolic process	cytosol|microtubule organizing center|spindle	dihydropyrimidinase activity|protein binding	g.chr4:5862782G>A	D78012	CCDS33950.1, CCDS43207.1, CCDS75102.1	4p16.1	2008-05-15			ENSG00000072832	ENSG00000072832			2365	protein-coding gene	gene with protein product		602462				8973361	Standard	XM_005247940		Approved	DRP-1, DPYSL1	uc003gis.3	Q14194	OTTHUMG00000125489	ENST00000397890.2:c.284C>T	4.37:g.5862782G>A	ENSP00000380987:p.Ala95Val					CRMP1_ENST00000397890.2_Missense_Mutation_p.A95V|CRMP1_ENST00000511535.1_5'UTR|CRMP1_ENST00000512574.1_Missense_Mutation_p.A93V	p.A209V	NM_001014809.1	NP_001014809.1	Q14194	DPYL1_HUMAN		Colorectal(103;0.0721)	3	714	-			95					A0EJG6|Q13024|Q4W5F1|Q96TC8	Missense_Mutation	SNP	ENST00000397890.2	37	c.626C>T	CCDS43207.1	.	.	.	.	.	.	.	.	.	.	G	26.8	4.776732	0.90195	.	.	ENSG00000072832	ENST00000324989;ENST00000397890;ENST00000534845;ENST00000512574	D;D;D	0.93547	-3.24;-3.24;-3.24	4.37	4.37	0.52481	Amidohydrolase 1 (1);Metal-dependent hydrolase, composite domain (1);	0.000000	0.85682	D	0.000000	D	0.97539	0.9194	H	0.95004	3.61	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.78314	0.979;0.991;0.991	D	0.98797	1.0738	10	0.87932	D	0	-12.6767	16.0708	0.80928	0.0:0.0:1.0:0.0	.	209;93;95	A0EJG6;E9PD68;Q14194	.;.;DPYL1_HUMAN	V	209;95;95;93	ENSP00000321606:A209V;ENSP00000380987:A95V;ENSP00000425742:A93V	ENSP00000321606:A209V	A	-	2	0	CRMP1	5913683	1.000000	0.71417	0.113000	0.21522	0.866000	0.49608	8.981000	0.93465	2.251000	0.74343	0.561000	0.74099	GCG		0.582	CRMP1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358871.1	NM_001313		12	48	0	0	0	0.00244969	0	12	48					A	5862782	G	A	5862782	3	1	79	1	0	0	0	0	1	0	0	0	3890	1087	38	1	1482	1	CRMP1	4	5862782	Missense_Mutation	SNP	G	TCGA-EJ-7123-01A-11D-1961-08		5862782	185291494	15	4128											
SORCS2	57537	broad.mit.edu	37	chr4	7684513	7684513	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctggcaaaccaaaaaattgAtgggaaagtgatgacgctta	16	8	10	7	1	0	3	0	3	0	0	0	4	0	4	2	2	1	2	2	2	6	2			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr4:7684513A>T	ENST00000507866.2	+	10	1494	c.1385A>T	c.(1384-1386)gAt>gTt	p.D462V	SORCS2_ENST00000329016.9_Missense_Mutation_p.D290V	NM_020777.2	NP_065828.2	Q96PQ0	SORC2_HUMAN	sortilin-related VPS10 domain containing receptor 2	462					neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	neuropeptide receptor activity (GO:0008188)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(8)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	42						CAAAAAATTGATGGGAAAGTG	0.468																																						ENST00000507866.2																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(8)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	42						c.(1384-1386)gAt>gTt		sortilin-related VPS10 domain containing receptor 2							97	90	92					4																	7684513		1881	4114	5995	SO:0001583	missense	57537					integral to membrane	neuropeptide receptor activity	g.chr4:7684513A>T	AB037750	CCDS47008.1	4p16.1	2008-02-05			ENSG00000184985	ENSG00000184985			16698	protein-coding gene	gene with protein product		606284				11499680	Standard	NM_020777		Approved	KIAA1329	uc003gkb.4	Q96PQ0	OTTHUMG00000159981	ENST00000507866.2:c.1385A>T	4.37:g.7684513A>T	ENSP00000422185:p.Asp462Val					SORCS2_ENST00000329016.9_Missense_Mutation_p.D290V	p.D462V	NM_020777.2	NP_065828.2	Q96PQ0	SORC2_HUMAN			10	1494	+			462					Q9P2L7	Missense_Mutation	SNP	ENST00000507866.2	37	c.1385A>T	CCDS47008.1	.	.	.	.	.	.	.	.	.	.	A	19.34	3.808692	0.70797	.	.	ENSG00000184985	ENST00000507866;ENST00000329016	T;T	0.43688	0.94;0.94	4.59	4.59	0.56863	VPS10 (1);	0.139284	0.24165	U	0.040947	T	0.64605	0.2613	M	0.85041	2.73	0.80722	D	1	P;D	0.64830	0.955;0.994	P;P	0.61070	0.754;0.883	T	0.72174	-0.4370	10	0.87932	D	0	.	14.14	0.65313	1.0:0.0:0.0:0.0	.	290;462	B5MED8;Q96PQ0	.;SORC2_HUMAN	V	462;290	ENSP00000422185:D462V;ENSP00000329124:D290V	ENSP00000329124:D290V	D	+	2	0	SORCS2	7735413	1.000000	0.71417	0.204000	0.23530	0.797000	0.45037	7.912000	0.87465	1.921000	0.55644	0.460000	0.39030	GAT		0.468	SORCS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358685.4	NM_020777		7	25	0	0	0	0.00198382	0	7	25					T	7684513	A	T	7684513	3	4	79	1	0	0	0	0	1	0	0	0	14931	333	12	5	1423	5	SORCS2	4	7684513	Missense_Mutation	SNP	A	TCGA-EJ-7123-01A-11D-1961-08	1821731	7684513	183469763	16	4129											
N4BP2	55728	broad.mit.edu	37	chr4	40119567	40119567	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cgttttgtttcagtgccaatAattatgagttcttcggttcc	7	18	8	8	2	2	1	1	1	1	0	4	1	3	1	2	1	1	4	2	1	3	8			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr4:40119567A>G	ENST00000261435.6	+	8	2159	c.1743A>G	c.(1741-1743)atA>atG	p.I581M		NM_018177.4	NP_060647.2	Q86UW6	N4BP2_HUMAN	NEDD4 binding protein 2	581					nucleic acid phosphodiester bond hydrolysis (GO:0090305)|phosphorylation (GO:0016310)	cytosol (GO:0005829)	ATP binding (GO:0005524)|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity (GO:0046404)|endonuclease activity (GO:0004519)			breast(4)|endometrium(3)|kidney(12)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	60						CAGTGCCAATAATTATGAGTT	0.358																																						ENST00000261435.6																			0				breast(4)|endometrium(3)|kidney(12)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	60						c.(1741-1743)atA>atG		NEDD4 binding protein 2							118	109	112					4																	40119567		2203	4300	6503	SO:0001583	missense	55728					cytoplasm	ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|endonuclease activity|protein binding	g.chr4:40119567A>G	AB037834	CCDS3457.1	4p14	2008-01-18			ENSG00000078177	ENSG00000078177			29851	protein-coding gene	gene with protein product	"BCL-3 binding protein"					10718198, 11717310	Standard	NM_018177		Approved	B3BP	uc003guy.4	Q86UW6	OTTHUMG00000128599	ENST00000261435.6:c.1743A>G	4.37:g.40119567A>G	ENSP00000261435:p.Ile581Met						p.I581M	NM_018177.4	NP_060647.2	Q86UW6	N4BP2_HUMAN			8	2159	+			581					A0AVR3|Q9NVK2|Q9P2D4	Missense_Mutation	SNP	ENST00000261435.6	37	c.1743A>G	CCDS3457.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	11.07|11.07	1.529178|1.529178	0.27387|0.27387	.|.	.|.	ENSG00000078177|ENSG00000078177	ENST00000261435;ENST00000381804|ENST00000513269	T|.	0.18960|.	2.18|.	5.44|5.44	-0.577|-0.577	0.11727|0.11727	.|.	0.351137|.	0.31268|.	N|.	0.007941|.	T|T	0.31451|0.31451	0.0797|0.0797	L|L	0.38175|0.38175	1.15|1.15	0.22156|0.22156	N|N	0.999321|0.999321	D;D|.	0.71674|.	0.998;0.996|.	P;P|.	0.62560|.	0.904;0.804|.	T|T	0.29912|0.29912	-0.9996|-0.9996	10|5	0.56958|.	D|.	0.05|.	-19.1776|-19.1776	5.6704|5.6704	0.17719|0.17719	0.4276:0.4097:0.0673:0.0954|0.4276:0.4097:0.0673:0.0954	.|.	581;581|.	Q86UW6-2;Q86UW6|.	.;N4BP2_HUMAN|.	M|D	581;501|228	ENSP00000261435:I581M|.	ENSP00000261435:I581M|.	I|N	+|+	3|1	3|0	N4BP2|N4BP2	39795962|39795962	0.992000|0.992000	0.36948|0.36948	0.998000|0.998000	0.56505|0.56505	0.272000|0.272000	0.26649|0.26649	0.583000|0.583000	0.23849|0.23849	0.039000|0.039000	0.15632|0.15632	-2.545000|-2.545000	0.00179|0.00179	ATA|AAT		0.358	N4BP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250458.2	NM_018177		17	51	0	0	0	0.000566183	0	17	51					G	40119567	A	G	40119567	3	3	79	1	0	0	0	0	1	0	0	0	10110	352	13	4	1765	4	N4BP2	4	40119567	Missense_Mutation	SNP	A	TCGA-EJ-7123-01A-11D-1961-08	32435054	40119567	151034709	17	4130											
DDX60L	91351	broad.mit.edu	37	chr4	169337892	169337892	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	accaaaaagggacatcgaatAatgacaaggaggagctccca	18	4	10	9	1	0	1	0	1	0	0	2	5	1	4	2	3	1	1	2	3	5	1			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr4:169337892A>C	ENST00000511577.1	-	20	2914	c.2667T>G	c.(2665-2667)atT>atG	p.I889M	DDX60L_ENST00000260184.7_Missense_Mutation_p.I889M|DDX60L_ENST00000505890.1_Missense_Mutation_p.I889M			Q5H9U9	DDX6L_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like	889	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.						ATP binding (GO:0005524)|helicase activity (GO:0004386)|RNA binding (GO:0003723)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.175)		GACATCGAATAATGACAAGGA	0.358																																						ENST00000511577.1																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43						c.(2665-2667)atT>atG		DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like							104	101	102					4																	169337892		1843	4122	5965	SO:0001583	missense	91351						ATP binding|ATP-dependent helicase activity|RNA binding	g.chr4:169337892A>C	AK092461	CCDS47161.1	4q32.3	2008-01-08				ENSG00000181381			26429	protein-coding gene	gene with protein product							Standard	XM_005263341		Approved	FLJ31033	uc003irq.4	Q5H9U9		ENST00000511577.1:c.2667T>G	4.37:g.169337892A>C	ENSP00000422423:p.Ile889Met					DDX60L_ENST00000260184.7_Missense_Mutation_p.I889M|DDX60L_ENST00000505890.1_Missense_Mutation_p.I889M	p.I889M			Q5H9U9	DDX6L_HUMAN		GBM - Glioblastoma multiforme(119;0.175)	20	2914	-		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)	889			Helicase ATP-binding.		Q96ND6	Missense_Mutation	SNP	ENST00000511577.1	37	c.2667T>G		.	.	.	.	.	.	.	.	.	.	A	0.011	-1.709175	0.00712	.	.	ENSG00000181381	ENST00000260184;ENST00000511577;ENST00000505890;ENST00000505863	T;T;T;T	0.71579	-0.58;-0.58;1.03;1.03	3.23	1.39	0.22231	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.364605	0.19473	N	0.113381	T	0.27798	0.0684	N	0.00608	-1.33	0.22710	N	0.998821	B;B;B	0.16166	0.016;0.009;0.016	B;B;B	0.10450	0.005;0.005;0.005	T	0.37641	-0.9697	10	0.02654	T	1	.	3.9394	0.09319	0.1966:0.5793:0.0:0.2241	.	889;889;889	E9PAP8;D6R906;Q5H9U9	.;.;DDX6L_HUMAN	M	889;889;889;585	ENSP00000260184:I889M;ENSP00000422423:I889M;ENSP00000422202:I889M;ENSP00000421026:I585M	ENSP00000260184:I889M	I	-	3	3	DDX60L	169574467	0.999000	0.42202	0.265000	0.24526	0.846000	0.48090	0.327000	0.19663	0.034000	0.15491	-0.662000	0.03851	ATT		0.358	DDX60L-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000364839.1	NM_001012967		15	84	0	0	0	0.000566183	0	15	84					C	169337892	A	C	169337892	3	2	79	1	0	0	0	0	1	0	0	0	4379	358	13	5	2529	5	DDX60L	4	169337892	Missense_Mutation	SNP	A	TCGA-EJ-7123-01A-11D-1961-08	129218325	169337892	21816384	18	4131											
ADAMTS16	170690	broad.mit.edu	37	chr5	5186169	5186169	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgtgtccctccatagacatGccccagcctcccaaggaaga	11	7	8	15	0	0	2	0	0	0	2	3	3	3	3	6	1	2	0	6	1	3	1			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr5:5186169G>A	ENST00000274181.7	+	5	906	c.768G>A	c.(766-768)atG>atA	p.M256I	ADAMTS16_ENST00000511368.1_Missense_Mutation_p.M256I	NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	256					branching involved in ureteric bud morphogenesis (GO:0001658)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						CCATAGACATGCCCCAGCCTC	0.468																																						ENST00000274181.7																			0				breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						c.(766-768)atG>atA		ADAM metallopeptidase with thrombospondin type 1 motif, 16							177	175	176					5																	5186169		1961	4162	6123	SO:0001583	missense	170690				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:5186169G>A	AJ315734	CCDS43299.1	5p15	2008-07-18	2005-08-19		ENSG00000145536	ENSG00000145536		"ADAM metallopeptidases with thrombospondin type 1 motif"	17108	protein-coding gene	gene with protein product		607510	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 16"			11867212	Standard	NM_139056		Approved	ADAMTS16s	uc003jdl.3	Q8TE57	OTTHUMG00000161663	ENST00000274181.7:c.768G>A	5.37:g.5186169G>A	ENSP00000274181:p.Met256Ile					ADAMTS16_ENST00000511368.1_Missense_Mutation_p.M256I	p.M256I	NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN			5	906	+			256					C6G490|Q8IVE2	Missense_Mutation	SNP	ENST00000274181.7	37	c.768G>A	CCDS43299.1	.	.	.	.	.	.	.	.	.	.	G	10.53	1.375721	0.24857	.	.	ENSG00000145536	ENST00000274181;ENST00000511368;ENST00000536857	T;T	0.61392	0.21;0.11	5.37	5.37	0.77165	.	0.047371	0.85682	D	0.000000	T	0.50718	0.1632	L	0.50333	1.59	0.48341	D	0.999633	B;B;B	0.22276	0.067;0.011;0.007	B;B;B	0.14023	0.008;0.01;0.004	T	0.46331	-0.9199	10	0.36615	T	0.2	.	12.9388	0.58331	0.0:0.0:0.8378:0.1622	.	256;256;256	Q8TE57;Q8TE57-2;Q2XQZ0	ATS16_HUMAN;.;.	I	256	ENSP00000274181:M256I;ENSP00000421631:M256I	ENSP00000274181:M256I	M	+	3	0	ADAMTS16	5239169	1.000000	0.71417	1.000000	0.80357	0.832000	0.47134	0.943000	0.29030	2.512000	0.84698	0.655000	0.94253	ATG		0.468	ADAMTS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365657.1	NM_139056		37	190	0	0	0	0.00285205	0	37	190					A	5186169	G	A	5186169	3	1	79	1	0	0	0	0	1	0	0	0	261	1319	46	3	786	3	ADAMTS16	5	5186169	Missense_Mutation	SNP	G	TCGA-EJ-7123-01A-11D-1961-08		5186169	175729091	19	4132											
CDH9	1007	broad.mit.edu	37	chr5	26886127	26886127	+	Frame_Shift_Del	DEL	T	T	-																															agagtaaattctggcactggTtcaaaaaagaatttgtgacc																										TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr5:26886127delT	ENST00000231021.4	-	10	1750	c.1578delA	c.(1576-1578)gaafs	p.E526fs		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	526	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						CTGGCACTGGTTCAAAAAAGA	0.313																																					Melanoma(8;187 585 15745 40864 52829)	ENST00000231021.4																			0				breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						c.(1576-1578)gafs		cadherin 9, type 2 (T1-cadherin)							75	86	82					5																	26886127		2202	4300	6502	SO:0001589	frameshift_variant	1007				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:26886127delT	AB035302	CCDS3893.1	5p14	2010-01-26			ENSG00000113100	ENSG00000113100		"Cadherins / Major cadherins"	1768	protein-coding gene	gene with protein product		609974				2059658	Standard	NM_016279		Approved		uc003jgs.1	Q9ULB4	OTTHUMG00000090671	ENST00000231021.4:c.1578delA	5.37:g.26886127delT	ENSP00000231021:p.Glu526fs						p.E526fs	NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN			10	1750	-			526			Cadherin 5.		Q3B7I5	Frame_Shift_Del	DEL	ENST00000231021.4	37	c.1578delA	CCDS3893.1																																																																																				0.313	CDH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207352.1	NM_016279		33	171						33	171	---	---	---	---	-	26886127	T	-	26886127	7	5	79	1	0	1	0	1	0	0	0	0	3117	1722	60	0	803	0	CDH9	5	26886127	Frame_Shift_Del	DEL	T	TCGA-EJ-7123-01A-11D-1961-08	21699958	26886127	154029133	20	4133											
PCDHGA10	56106	broad.mit.edu	37	chr5	140795088	140795088	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagcccaattatgcggacacGctcatcagccaggagagctg	11	6	11	13	2	2	1	2	0	0	1	2	3	2	2	2	2	4	2	2	2	2	1			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr5:140795088G>A	ENST00000398610.2	+	1	2346	c.2346G>A	c.(2344-2346)acG>acA	p.T782T	PCDHGA8_ENST00000398604.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGB7_ENST00000398594.2_5'Flank|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA6_ENST00000517434.1_Intron	NM_018913.2|NM_032090.1	NP_061736.1|NP_114479.1	Q9Y5H3	PCDGA_HUMAN	protocadherin gamma subfamily A, 10	782					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	43			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATGCGGACACGCTCATCAGCC	0.507																																						ENST00000398610.2																			0				breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						c.(2344-2346)acG>acA									96	104	101					5																	140795088		2203	4300	6503	SO:0001819	synonymous_variant	0							g.chr5:140795088G>A		CCDS47292.1, CCDS75343.1	5q31	2010-01-26			ENSG00000253846	ENSG00000253846		"Cadherins / Protocadherins : Clustered"	8697	other	protocadherin		606297				10380929	Standard	NM_018913		Approved	PCDH-GAMMA-A10		Q9Y5H3	OTTHUMG00000163688	ENST00000398610.2:c.2346G>A	5.37:g.140795088G>A						PCDHGA7_ENST00000518325.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB4_ENST00000519479.1_Intron	p.T782T	NM_018913.2|NM_032090.1	NP_061736.1|NP_114479.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2346	+								Q9Y5E0	Silent	SNP	ENST00000398610.2	37	c.2346G>A	CCDS47292.1																																																																																				0.507	PCDHGA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374747.1	NM_018913		18	122	0	0	0	0.00121646	0	18	122					A	140795088	G	A	140795088	2	1	79	1	0	0	0	0	0	0	0	1	11551	1074	38	1		1	PCDHGA10	5	140795088	Silent	SNP	G	TCGA-EJ-7123-01A-11D-1961-08	113908961	140795088	40120172	21	4134											
FBXW11	23291	broad.mit.edu	37	chr5	171318481	171318481	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agtcattcaccttaatagaaTtatctcgtaggccactgata	13	13	6	9	1	3	2	2	1	1	1	4	2	3	2	2	1	0	1	2	1	6	6			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr5:171318481T>C	ENST00000265094.5	-	6	916	c.779A>G	c.(778-780)aAt>aGt	p.N260S	FBXW11_ENST00000425623.2_Missense_Mutation_p.N228S|FBXW11_ENST00000393802.2_Missense_Mutation_p.N226S|FBXW11_ENST00000522891.1_5'UTR|FBXW11_ENST00000296933.6_Missense_Mutation_p.N247S	NM_012300.2	NP_036432.2	Q9UKB1	FBW1B_HUMAN	F-box and WD repeat domain containing 11	260					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of circadian rhythm (GO:0042753)|positive regulation of proteolysis (GO:0045862)|positive regulation of transcription, DNA-templated (GO:0045893)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein dephosphorylation (GO:0006470)|protein destabilization (GO:0031648)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|rhythmic process (GO:0048511)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|Wnt signaling pathway (GO:0016055)	centrosome (GO:0005813)|cytosol (GO:0005829)|nucleus (GO:0005634)|SCF ubiquitin ligase complex (GO:0019005)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|prostate(2)|urinary_tract(2)	21	Renal(175;0.000159)|Lung NSC(126;0.00384)|all_lung(126;0.00659)	Medulloblastoma(196;0.00853)|all_neural(177;0.026)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			CTTAATAGAATTATCTCGTAG	0.348																																						ENST00000296933.6																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|prostate(2)|urinary_tract(2)	21						c.(739-741)aAt>aGt		F-box and WD repeat domain containing 11							64	63	63					5																	171318481		2203	4299	6502	SO:0001583	missense	23291				cell cycle|negative regulation of transcription, DNA-dependent|positive regulation of circadian rhythm|positive regulation of proteolysis|positive regulation of transcription, DNA-dependent|protein dephosphorylation|protein destabilization|protein polyubiquitination|rhythmic process|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway	centrosome|cytosol|nucleus|SCF ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity	g.chr5:171318481T>C	AB014596	CCDS34289.1, CCDS47340.1, CCDS47341.1	5q35.1	2013-01-09	2007-02-08	2004-06-16	ENSG00000072803	ENSG00000072803		"F-boxes / WD-40 domains", "WD repeat domain containing"	13607	protein-coding gene	gene with protein product		605651	"F-box and WD-40 domain protein 1B", "F-box and WD-40 domain protein 11"	FBXW1B		10531035, 10694485	Standard	NM_033644		Approved	KIAA0696, Fbw1b, BTRCP2, BTRC2, Hos, Fbw11	uc003mbm.1	Q9UKB1	OTTHUMG00000163267	ENST00000265094.5:c.779A>G	5.37:g.171318481T>C	ENSP00000265094:p.Asn260Ser					FBXW11_ENST00000522891.1_5'UTR|FBXW11_ENST00000265094.5_Missense_Mutation_p.N260S|FBXW11_ENST00000425623.2_Missense_Mutation_p.N228S|FBXW11_ENST00000393802.2_Missense_Mutation_p.N226S	p.N247S	NM_033644.2|NM_033645.2	NP_387448.2|NP_387449.2	Q9UKB1	FBW1B_HUMAN	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)		6	1110	-	Renal(175;0.000159)|Lung NSC(126;0.00384)|all_lung(126;0.00659)	Medulloblastoma(196;0.00853)|all_neural(177;0.026)	260					B2RC98|Q9P2S8|Q9P2S9|Q9Y4C6	Missense_Mutation	SNP	ENST00000265094.5	37	c.740A>G	CCDS34289.1	.	.	.	.	.	.	.	.	.	.	T	15.66	2.898370	0.52227	.	.	ENSG00000072803	ENST00000296933;ENST00000265094;ENST00000393802;ENST00000425623	T;T;T;T	0.61040	1.3;0.14;1.3;1.3	4.95	4.95	0.65309	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.49525	0.1562	L	0.39514	1.22	0.80722	D	1	B;B;B;B	0.28208	0.063;0.099;0.203;0.051	B;B;B;B	0.23574	0.008;0.019;0.047;0.011	T	0.53208	-0.8471	10	0.72032	D	0.01	-19.0506	14.5654	0.68171	0.0:0.0:0.0:1.0	.	228;226;260;247	B4DH70;Q9UKB1-2;Q9UKB1;Q9UKB1-3	.;.;FBW1B_HUMAN;.	S	247;260;226;228	ENSP00000296933:N247S;ENSP00000265094:N260S;ENSP00000377391:N226S;ENSP00000444929:N228S	ENSP00000265094:N260S	N	-	2	0	FBXW11	171251086	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.886000	0.87288	1.991000	0.58162	0.477000	0.44152	AAT		0.348	FBXW11-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000372382.1	NM_012300		7	44	0	0	0	0.000274275	0	7	44					C	171318481	T	C	171318481	3	2	79	1	0	0	0	0	1	0	0	0	5764	1493	52	4	877	4	FBXW11	5	171318481	Missense_Mutation	SNP	T	TCGA-EJ-7123-01A-11D-1961-08	30523393	171318481	9596779	22	4135											
ADAMTS2	9509	broad.mit.edu	37	chr5	178634552	178634552	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	caggtacttctgtacgtgctCcttcccgtggaactgcacca	7	11	9	14	2	1	0	0	0	1	0	3	1	3	1	3	2	5	4	3	2	3	4			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr5:178634552C>T	ENST00000251582.7	-	4	954	c.853G>A	c.(853-855)Gag>Aag	p.E285K	ADAMTS2_ENST00000274609.5_Missense_Mutation_p.E285K	NM_014244.4	NP_055059.2	O95450	ATS2_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 2	285	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|lung development (GO:0030324)|protein processing (GO:0016485)|skin development (GO:0043588)|spermatogenesis (GO:0007283)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)		TGTACGTGCTCCTTCCCGTGG	0.637																																						ENST00000251582.7																			0				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72						c.(853-855)Gag>Aag		ADAM metallopeptidase with thrombospondin type 1 motif, 2							159	132	141					5																	178634552		2203	4300	6503	SO:0001583	missense	9509				collagen catabolic process	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:178634552C>T	AJ003125	CCDS4444.1, CCDS34311.1	5q23-q24	2008-07-18	2005-08-19		ENSG00000087116	ENSG00000087116		"ADAM metallopeptidases with thrombospondin type 1 motif"	218	protein-coding gene	gene with protein product	"procollagen I N-proteinase", "procollagen N-endopeptidase"	604539	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 2"			10094461, 15373769	Standard	NM_014244		Approved	ADAMTS-3, hPCPNI, PCINP, ADAM-TS2, NPI	uc003mjw.3	O95450	OTTHUMG00000130915	ENST00000251582.7:c.853G>A	5.37:g.178634552C>T	ENSP00000251582:p.Glu285Lys					ADAMTS2_ENST00000274609.5_Missense_Mutation_p.E285K	p.E285K	NM_014244.4	NP_055059.2	O95450	ATS2_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)	4	954	-	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	285			Peptidase M12B.			Missense_Mutation	SNP	ENST00000251582.7	37	c.853G>A	CCDS4444.1	.	.	.	.	.	.	.	.	.	.	C	25.0	4.589655	0.86851	.	.	ENSG00000087116	ENST00000251582;ENST00000274609	D;D	0.86956	-2.19;-2.19	5.39	4.51	0.55191	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.000000	0.51477	D	0.000090	D	0.90827	0.7119	L	0.51422	1.61	0.52501	D	0.999955	D;D	0.89917	0.998;1.0	D;D	0.91635	0.991;0.999	D	0.89548	0.3797	10	0.33141	T	0.24	.	14.8852	0.70564	0.1447:0.8553:0.0:0.0	.	285;285	O95450-2;O95450	.;ATS2_HUMAN	K	285	ENSP00000251582:E285K;ENSP00000274609:E285K	ENSP00000251582:E285K	E	-	1	0	ADAMTS2	178567158	1.000000	0.71417	0.985000	0.45067	0.925000	0.55904	7.582000	0.82546	1.398000	0.46701	0.561000	0.74099	GAG		0.637	ADAMTS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253507.1	NM_014244		9	128	0	0	0	0.000442599	0	9	128					T	178634552	C	T	178634552	3	4	79	1	0	0	0	0	1	0	0	0	265	864	30	3	2933	3	ADAMTS2	5	178634552	Missense_Mutation	SNP	C	TCGA-EJ-7123-01A-11D-1961-08	7316071	178634552	2280708	23	4136											
FAM50B	26240	broad.mit.edu	37	chr6	3850540	3850540	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	gaggaggaggagaaccggctCcgagaggagctgcgccaaga	12	2	18	9	3	0	3	0	0	0	3	1	9	1	6	3	5	3	2	3	5	2	0			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr6:3850540C>G	ENST00000380274.1	+	1	921	c.495C>G	c.(493-495)ctC>ctG	p.L165L	FAM50B_ENST00000380272.3_Silent_p.L165L			Q9Y247	FA50B_HUMAN	family with sequence similarity 50, member B	165						nucleus (GO:0005634)				cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|pancreas(1)|prostate(3)|urinary_tract(3)	17	Ovarian(93;0.0925)	all_hematologic(90;0.108)				AGAACCGGCTCCGAGAGGAGC	0.687																																						ENST00000380274.1																			0				cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|pancreas(1)|prostate(3)|urinary_tract(3)	17						c.(493-495)ctC>ctG		family with sequence similarity 50, member B							27	29	28					6																	3850540		2200	4299	6499	SO:0001819	synonymous_variant	26240					nucleus		g.chr6:3850540C>G	Y18504	CCDS4487.1	6p25.2	2008-05-15			ENSG00000145945	ENSG00000145945			18789	protein-coding gene	gene with protein product		614686				10534398	Standard	NM_012135		Approved	D6S2654E, X5L	uc003mvu.3	Q9Y247	OTTHUMG00000014147	ENST00000380274.1:c.495C>G	6.37:g.3850540C>G						FAM50B_ENST00000380272.3_Silent_p.L165L	p.L165L			Q9Y247	FA50B_HUMAN			1	921	+	Ovarian(93;0.0925)	all_hematologic(90;0.108)	165					Q5T2L6	Silent	SNP	ENST00000380274.1	37	c.495C>G	CCDS4487.1																																																																																				0.687	FAM50B-002	NOVEL	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039693.1	NM_012135		6	47	0	0	0	0.00116845	0	6	47					G	3850540	C	G	3850540	2	3	79	1	0	0	0	0	0	0	0	1	5578	842	30	5		5	FAM50B	6	3850540	Silent	SNP	C	TCGA-EJ-7123-01A-11D-1961-08		3850540	167264527	24	4137											
E2F3	1871	broad.mit.edu	37	chr6	20486928	20486928	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gacactctttacgttagcttAtgttacatatcaagatattc	12	16	5	8	1	2	1	1	0	1	1	3	2	2	1	0	0	3	3	0	0	7	8	rs183255612		TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr6:20486928A>G	ENST00000346618.3	+	5	959	c.893A>G	c.(892-894)tAt>tGt	p.Y298C	E2F3_ENST00000535432.1_Missense_Mutation_p.Y167C	NM_001949.4	NP_001940.1	O00716	E2F3_HUMAN	E2F transcription factor 3	298	Dimerization. {ECO:0000255}.				mitotic cell cycle (GO:0000278)|Notch signaling pathway (GO:0007219)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	core promoter binding (GO:0001047)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(3)	7	all_cancers(95;0.154)|all_epithelial(95;0.0585)|Breast(50;0.146)|Ovarian(93;0.148)		OV - Ovarian serous cystadenocarcinoma(7;0.0068)|all cancers(50;0.0148)|Epithelial(50;0.0562)			ACGTTAGCTTATGTTACATAT	0.333																																						ENST00000346618.3																			0				central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(3)	7						c.(892-894)tAt>tGt		E2F transcription factor 3							65	63	63					6																	20486928		2203	4300	6503	SO:0001583	missense	1871				G1 phase of mitotic cell cycle|G2 phase of mitotic cell cycle|transcription initiation from RNA polymerase II promoter	transcription factor complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr6:20486928A>G	Y10479	CCDS4545.1, CCDS58999.1	6p22	2008-08-29			ENSG00000112242	ENSG00000112242			3115	protein-coding gene	gene with protein product		600427				8246996	Standard	NM_001949		Approved		uc003nda.2	O00716	OTTHUMG00000016389	ENST00000346618.3:c.893A>G	6.37:g.20486928A>G	ENSP00000262904:p.Tyr298Cys					E2F3_ENST00000535432.1_Missense_Mutation_p.Y167C	p.Y298C	NM_001949.4	NP_001940.1	O00716	E2F3_HUMAN	OV - Ovarian serous cystadenocarcinoma(7;0.0068)|all cancers(50;0.0148)|Epithelial(50;0.0562)		5	959	+	all_cancers(95;0.154)|all_epithelial(95;0.0585)|Breast(50;0.146)|Ovarian(93;0.148)		298			Dimerization (Potential).		Q15000|Q68DT0|Q9BZ44	Missense_Mutation	SNP	ENST00000346618.3	37	c.893A>G	CCDS4545.1	.	.	.	.	.	.	.	.	.	.	A	23.2	4.390290	0.82902	.	.	ENSG00000112242	ENST00000346618;ENST00000535432	D;D	0.96587	-4.06;-4.06	5.93	5.93	0.95920	.	0.110414	0.64402	D	0.000004	D	0.98232	0.9415	M	0.88241	2.94	0.80722	D	1	D	0.89917	1.0	D	0.78314	0.991	D	0.99387	1.0924	10	0.87932	D	0	.	16.3829	0.83481	1.0:0.0:0.0:0.0	.	298	O00716	E2F3_HUMAN	C	298;167	ENSP00000262904:Y298C;ENSP00000443418:Y167C	ENSP00000262904:Y298C	Y	+	2	0	E2F3	20594907	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.287000	0.95975	2.271000	0.75665	0.459000	0.35465	TAT		0.333	E2F3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043828.1			7	44	0	0	0	0.00307968	0	7	44					G	20486928	A	G	20486928	3	3	79	1	0	0	0	0	1	0	0	0	4868	449	16	4	911	4	E2F3	6	20486928	Missense_Mutation	SNP	A	TCGA-EJ-7123-01A-11D-1961-08	16636388	20486928	150628139	25	4138											
TNXB	7148	broad.mit.edu	37	chr6	32037543	32037543	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gactgtccaggagaggcccaCggagttctgggtcacggtgg	7	7	17	10	2	2	1	1	0	1	1	3	4	3	2	2	6	0	1	2	6	0	1			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr6:32037543C>T	ENST00000375244.3	-	15	5575	c.5374G>A	c.(5374-5376)Gtg>Atg	p.V1792M	TNXB_ENST00000375247.2_Missense_Mutation_p.V1792M			P22105	TENX_HUMAN	tenascin XB	1874	Fibronectin type-III 10. {ECO:0000255|PROSITE-ProRule:PRU00316}.				actin cytoskeleton organization (GO:0030036)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|collagen fibril organization (GO:0030199)|collagen metabolic process (GO:0032963)|elastic fiber assembly (GO:0048251)|extracellular fibril organization (GO:0043206)|fatty acid metabolic process (GO:0006631)|regulation of JUN kinase activity (GO:0043506)|single organismal cell-cell adhesion (GO:0016337)|triglyceride metabolic process (GO:0006641)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						GAGAGGCCCACGGAGTTCTGG	0.622																																						ENST00000375244.3																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						c.(5374-5376)Gtg>Atg		tenascin XB							23	26	25					6																	32037543		2011	4177	6188	SO:0001583	missense	7148				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding	g.chr6:32037543C>T	X71923	CCDS4736.1	6p21.3	2013-02-11			ENSG00000168477	ENSG00000168477		"Fibrinogen C domain containing", "Fibronectin type III domain containing"	11976	protein-coding gene	gene with protein product		600985		TNXB1, TNXB2		8530023	Standard	NM_019105		Approved	TNXBS, XBS, XB	uc021yvf.2	P22105	OTTHUMG00000031088	ENST00000375244.3:c.5374G>A	6.37:g.32037543C>T	ENSP00000364393:p.Val1792Met					TNXB_ENST00000375247.2_Missense_Mutation_p.V1792M	p.V1792M			P22105	TENX_HUMAN			15	5575	-			1874			Fibronectin type-III 10.		P78530|P78531|Q08424|Q08AM0|Q08AM1|Q59GU7|Q5SQD3|Q5ST74|Q7L8Q4|Q8N4R1|Q9NPK9|Q9UC10|Q9UC11|Q9UC12|Q9UC13|Q9UMG7	Missense_Mutation	SNP	ENST00000375244.3	37	c.5374G>A		.	.	.	.	.	.	.	.	.	.	C	20.7	4.030932	0.75504	.	.	ENSG00000168477	ENST00000375244;ENST00000375247	T;T	0.59772	0.24;0.24	5.5	5.5	0.81552	.	0.171276	0.28209	N	0.016189	T	0.64886	0.2639	L	0.58925	1.835	0.23984	N	0.996269	D	0.89917	1.0	D	0.91635	0.999	T	0.60105	-0.7328	10	0.48119	T	0.1	.	16.3129	0.82904	0.0:1.0:0.0:0.0	.	1792	P22105-3	.	M	1792	ENSP00000364393:V1792M;ENSP00000364396:V1792M	ENSP00000364393:V1792M	V	-	1	0	TNXB	32145521	0.074000	0.21230	0.994000	0.49952	0.992000	0.81027	0.677000	0.25262	2.598000	0.87819	0.591000	0.81541	GTG		0.622	TNXB-001	PUTATIVE	not_organism_supported|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000268927.2	NM_019105		8	22	0	0	0	0.000274275	0	8	22					T	32037543	C	T	32037543	3	4	79	1	0	0	0	0	1	0	0	0	16343	536	19	1	9459	1	TNXB	6	32037543	Missense_Mutation	SNP	C	TCGA-EJ-7123-01A-11D-1961-08	11550615	32037543	139077524	26	4139											
FAM120B	84498	broad.mit.edu	37	chr6	170639605	170639605	+	Missense_Mutation	SNP	G	G	T																															ggaacccactgaggcacccgGacctcgtcaggccgctgcag																										TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr6:170639605G>T	ENST00000476287.1	+	4	2092	c.1984G>T	c.(1984-1986)Gac>Tac	p.D662Y	FAM120B_ENST00000252510.9_5'UTR|MIR4644_ENST00000579929.1_RNA|FAM120B_ENST00000537664.1_Missense_Mutation_p.D685Y|FAM120B_ENST00000540480.1_Missense_Mutation_p.D674Y	NM_032448.1	NP_115824.1	Q96EK7	F120B_HUMAN	family with sequence similarity 120B	662					cell differentiation (GO:0030154)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(1)|prostate(2)|skin(2)	44		Breast(66;0.000338)|Esophageal squamous(34;0.241)		OV - Ovarian serous cystadenocarcinoma(33;3.94e-22)|BRCA - Breast invasive adenocarcinoma(81;6.47e-06)|GBM - Glioblastoma multiforme(31;0.0899)		GAGGCACCCGGACCTCGTCAG	0.483																																						ENST00000476287.1																			0				endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(1)|prostate(2)|skin(2)	44						c.(1984-1986)Gac>Tac		family with sequence similarity 120B							127	117	121					6																	170639605		2203	4300	6503	SO:0001583	missense	84498				cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	g.chr6:170639605G>T	AB058741	CCDS5314.1, CCDS75555.1	6q27	2011-04-13	2006-07-04	2006-07-04	ENSG00000112584	ENSG00000112584			21109	protein-coding gene	gene with protein product	"PPARgamma constitutive coactivator 1", "constitutive coactivator of PPAR-gamma"	612266	"KIAA1838"	KIAA1838		14585507	Standard	NM_032448		Approved	PGCC1, CCPG	uc003qxp.3	Q96EK7	OTTHUMG00000016080	ENST00000476287.1:c.1984G>T	6.37:g.170639605G>T	ENSP00000417970:p.Asp662Tyr					FAM120B_ENST00000540480.1_Missense_Mutation_p.D674Y|FAM120B_ENST00000537664.1_Missense_Mutation_p.D685Y|FAM120B_ENST00000252510.9_5'UTR	p.D662Y	NM_032448.1	NP_115824.1	Q96EK7	F120B_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;3.94e-22)|BRCA - Breast invasive adenocarcinoma(81;6.47e-06)|GBM - Glioblastoma multiforme(31;0.0899)	4	2092	+		Breast(66;0.000338)|Esophageal squamous(34;0.241)	662					B4DL34|Q86V68|Q96JI9	Missense_Mutation	SNP	ENST00000476287.1	37	c.1984G>T	CCDS5314.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.212243	0.79240	.	.	ENSG00000112584	ENST00000540480;ENST00000537664;ENST00000476287	T;T;T	0.42900	0.96;0.96;0.96	4.96	4.96	0.65561	.	0.228799	0.46145	D	0.000315	T	0.55065	0.1897	M	0.61703	1.905	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.996	T	0.60239	-0.7302	10	0.87932	D	0	-30.33	16.0104	0.80399	0.0:0.0:1.0:0.0	.	662;662	Q96EK7;F2Z2E1	F120B_HUMAN;.	Y	674;685;662	ENSP00000444125:D674Y;ENSP00000440125:D685Y;ENSP00000417970:D662Y	ENSP00000436640:D662Y	D	+	1	0	FAM120B	170481530	1.000000	0.71417	0.995000	0.50966	0.991000	0.79684	5.945000	0.70226	2.300000	0.77407	0.655000	0.94253	GAC		0.483	FAM120B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000043259.2	NM_032448		9	83	1	0	5.16669e-11	0.000978159	2.73096e-10	9	83					T	170639605	G	T	170639605	3	4	79	1	0	0	0	0	1	0	0	0	5417	1174	41	5	1994	5	FAM120B	6	170639605	Missense_Mutation	SNP	G	TCGA-EJ-7123-01A-11D-1961-08	138602062	170639605	475462	27	4140	25	2									
FAM120B	84498	broad.mit.edu	37	chr6	170639606	170639606	+	Missense_Mutation	SNP	A	A	T																															gaacccactgaggcacccggAcctcgtcaggccgctgcaga																										TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr6:170639606A>T	ENST00000476287.1	+	4	2093	c.1985A>T	c.(1984-1986)gAc>gTc	p.D662V	FAM120B_ENST00000252510.9_5'UTR|MIR4644_ENST00000579929.1_RNA|FAM120B_ENST00000537664.1_Missense_Mutation_p.D685V|FAM120B_ENST00000540480.1_Missense_Mutation_p.D674V	NM_032448.1	NP_115824.1	Q96EK7	F120B_HUMAN	family with sequence similarity 120B	662					cell differentiation (GO:0030154)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(1)|prostate(2)|skin(2)	44		Breast(66;0.000338)|Esophageal squamous(34;0.241)		OV - Ovarian serous cystadenocarcinoma(33;3.94e-22)|BRCA - Breast invasive adenocarcinoma(81;6.47e-06)|GBM - Glioblastoma multiforme(31;0.0899)		AGGCACCCGGACCTCGTCAGG	0.483																																						ENST00000476287.1																			0				endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(1)|prostate(2)|skin(2)	44						c.(1984-1986)gAc>gTc		family with sequence similarity 120B							128	118	121					6																	170639606		2203	4300	6503	SO:0001583	missense	84498				cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	g.chr6:170639606A>T	AB058741	CCDS5314.1, CCDS75555.1	6q27	2011-04-13	2006-07-04	2006-07-04	ENSG00000112584	ENSG00000112584			21109	protein-coding gene	gene with protein product	"PPARgamma constitutive coactivator 1", "constitutive coactivator of PPAR-gamma"	612266	"KIAA1838"	KIAA1838		14585507	Standard	NM_032448		Approved	PGCC1, CCPG	uc003qxp.3	Q96EK7	OTTHUMG00000016080	ENST00000476287.1:c.1985A>T	6.37:g.170639606A>T	ENSP00000417970:p.Asp662Val					FAM120B_ENST00000540480.1_Missense_Mutation_p.D674V|FAM120B_ENST00000537664.1_Missense_Mutation_p.D685V|FAM120B_ENST00000252510.9_5'UTR	p.D662V	NM_032448.1	NP_115824.1	Q96EK7	F120B_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;3.94e-22)|BRCA - Breast invasive adenocarcinoma(81;6.47e-06)|GBM - Glioblastoma multiforme(31;0.0899)	4	2093	+		Breast(66;0.000338)|Esophageal squamous(34;0.241)	662					B4DL34|Q86V68|Q96JI9	Missense_Mutation	SNP	ENST00000476287.1	37	c.1985A>T	CCDS5314.1	.	.	.	.	.	.	.	.	.	.	A	21.8	4.205110	0.79127	.	.	ENSG00000112584	ENST00000540480;ENST00000537664;ENST00000476287	T;T;T	0.40756	1.02;1.02;1.02	4.96	4.96	0.65561	.	0.228799	0.46145	D	0.000315	T	0.51719	0.1691	M	0.61703	1.905	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.80764	0.994;0.989	T	0.58346	-0.7652	10	0.87932	D	0	-30.33	12.8936	0.58087	1.0:0.0:0.0:0.0	.	662;662	Q96EK7;F2Z2E1	F120B_HUMAN;.	V	674;685;662	ENSP00000444125:D674V;ENSP00000440125:D685V;ENSP00000417970:D662V	ENSP00000436640:D662V	D	+	2	0	FAM120B	170481531	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.643000	0.67895	1.866000	0.54105	0.533000	0.62120	GAC		0.483	FAM120B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000043259.2	NM_032448		9	83	0	0	0	0.000978159	0	9	83					T	170639606	A	T	170639606	3	4	79	1	0	0	0	0	1	0	0	0	5417	275	10	5	1995	5	FAM120B	6	170639606	Missense_Mutation	SNP	A	TCGA-EJ-7123-01A-11D-1961-08	1	170639606	475461	28	4141	25	2									
ZNF789	285989	broad.mit.edu	37	chr7	99079801	99079801	+	Intron	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcagtttatttccagtttgAtgctgcaataccactgtgct	8	17	7	9	0	1	1	1	1	0	0	2	1	2	1	2	0	4	5	2	0	3	6			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr7:99079801A>C	ENST00000331410.5	+	4	421				ZNF789_ENST00000493485.1_Intron|ZNF789_ENST00000448667.1_Intron|ZNF789_ENST00000483089.1_3'UTR|ZNF789_ENST00000379724.3_Missense_Mutation_p.D56A	NM_213603.2	NP_998768.2	Q5FWF6	ZN789_HUMAN	zinc finger protein 789						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|kidney(2)|large_intestine(4)|lung(2)|ovary(1)	11	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)					ttccagtttgatgctgcaata	0.378																																						ENST00000379724.3																			0				endometrium(2)|kidney(2)|large_intestine(4)|lung(2)|ovary(1)	11						c.(166-168)gAt>gCt		zinc finger protein 789							125	111	116					7																	99079801		2203	4297	6500	SO:0001627	intron_variant	285989				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:99079801A>C	AK093141	CCDS34693.1, CCDS34694.1	7q22.1	2013-01-08			ENSG00000198556	ENSG00000198556		"Zinc fingers, C2H2-type", "-"	27801	protein-coding gene	gene with protein product						12477932	Standard	XM_005250281		Approved		uc003uqq.1	Q5FWF6	OTTHUMG00000154601	ENST00000331410.5:c.152-1852A>C	7.37:g.99079801A>C						ZNF789_ENST00000483089.1_3'UTR|ZNF789_ENST00000448667.1_Intron|ZNF789_ENST00000331410.5_Intron|ZNF789_ENST00000493485.1_Intron	p.D56A	NM_001013258.1	NP_001013276.1	Q5FWF6	ZN789_HUMAN			4	366	+	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)		55			KRAB.		A4D282|A6NH61|Q6ZMZ9	Missense_Mutation	SNP	ENST00000331410.5	37	c.167A>C	CCDS34693.1	.	.	.	.	.	.	.	.	.	.	A	2.044	-0.419372	0.04766	.	.	ENSG00000198556	ENST00000379724	T	0.02085	4.46	.	.	.	.	.	.	.	.	T	0.01976	0.0062	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.44143	-0.9347	6	0.56958	D	0.05	.	.	.	.	.	56	A6NH61	.	A	56	ENSP00000369047:D56A	ENSP00000369047:D56A	D	+	2	0	ZNF789	98917737	0.003000	0.15002	0.377000	0.26055	0.377000	0.30045	0.352000	0.20113	0.056000	0.16144	0.055000	0.15244	GAT		0.378	ZNF789-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336266.1	NM_213603		11	49	0	0	0	0.000978159	0	11	49					C	99079801	A	C	99079801	1	2	79	0	1	0	0	0	0	0	0	0	18157	333	12	5		5	ZNF789	7	99079801	Intron	SNP	A	TCGA-EJ-7123-01A-11D-1961-08		99079801	60058862	29	4142											
ZNF3	7551	broad.mit.edu	37	chr7	99669788	99669788	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cagtaggaccccatgtgatcTtgtgtcttcagaaatttctt	9	15	8	9	0	4	2	1	1	3	1	4	3	4	3	2	1	0	1	2	1	2	5			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr7:99669788T>C	ENST00000424697.1	-	6	625	c.319A>G	c.(319-321)Aga>Gga	p.R107G	ZNF3_ENST00000303915.6_Missense_Mutation_p.R107G|ZNF3_ENST00000299667.4_Missense_Mutation_p.R107G|ZNF3_ENST00000413658.2_Intron	NM_001278284.1|NM_001278287.1|NM_001278290.1|NM_001278291.1|NM_001278292.1|NM_032924.3	NP_001265213.1|NP_001265216.1|NP_001265219.1|NP_001265220.1|NP_001265221.1|NP_116313.3	P17036	ZNF3_HUMAN	zinc finger protein 3	107	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				cell differentiation (GO:0030154)|leukocyte activation (GO:0045321)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(8)|ovary(1)|skin(2)	25	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)	Ovarian(593;2.06e-05)|Myeloproliferative disorder(862;0.0122)|Breast(660;0.029)	STAD - Stomach adenocarcinoma(171;0.129)			CCATGTGATCTTGTGTCTTCA	0.403																																						ENST00000303915.6																			0				NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(8)|ovary(1)|skin(2)	25						c.(319-321)Aga>Gga		zinc finger protein 3							111	100	103					7																	99669788		1844	4087	5931	SO:0001583	missense	7551				cell differentiation|leukocyte activation|multicellular organismal development	nucleus	DNA binding|identical protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr7:99669788T>C	AF027136	CCDS43618.1, CCDS43619.1	7q22.1	2013-01-08	2006-05-05					"Zinc fingers, C2H2-type", "-"	13089	protein-coding gene	gene with protein product		194510	"zinc finger protein 3 (A8-51)"				Standard	NM_032924		Approved	A8-51, KOX25, PP838, FLJ20216, HF.12, Zfp113	uc003usr.4	P17036		ENST00000424697.1:c.319A>G	7.37:g.99669788T>C	ENSP00000415358:p.Arg107Gly					ZNF3_ENST00000299667.4_Missense_Mutation_p.R107G|ZNF3_ENST00000424697.1_Missense_Mutation_p.R107G|ZNF3_ENST00000413658.2_Intron	p.R107G			P17036	ZNF3_HUMAN	STAD - Stomach adenocarcinoma(171;0.129)		5	1286	-	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)	Ovarian(593;2.06e-05)|Myeloproliferative disorder(862;0.0122)|Breast(660;0.029)	107			KRAB.		D6W5U0|P13683|Q9HBR4|Q9NNX8|Q9NXJ1|Q9UC15|Q9UC16	Missense_Mutation	SNP	ENST00000424697.1	37	c.319A>G	CCDS43619.1	.	.	.	.	.	.	.	.	.	.	T	6.168	0.399195	0.11696	.	.	ENSG00000166526	ENST00000424697;ENST00000303915;ENST00000299667;ENST00000412947;ENST00000449785;ENST00000428683;ENST00000441298	T;T;T;T;T;T;T	0.06849	3.25;3.25;3.25;5.12;5.25;5.25;5.07	5.01	4.12	0.48240	Krueppel-associated box (2);	0.389409	0.22188	N	0.063419	T	0.03959	0.0111	N	0.04132	-0.27	0.22961	N	0.998506	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.42155	-0.9468	10	0.21540	T	0.41	-10.2609	10.4537	0.44537	0.0:0.9028:0.0:0.0972	.	90;107	B3KRP4;P17036	.;ZNF3_HUMAN	G	107;107;107;71;107;107;71	ENSP00000415358:R107G;ENSP00000306372:R107G;ENSP00000299667:R107G;ENSP00000416088:R71G;ENSP00000405970:R107G;ENSP00000388042:R107G;ENSP00000394113:R71G	ENSP00000299667:R107G	R	-	1	2	ZNF3	99507724	0.001000	0.12720	0.847000	0.33407	0.829000	0.46940	0.971000	0.29396	1.323000	0.45263	-0.415000	0.06103	AGA		0.403	ZNF3-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336247.3	NM_017715		16	81	0	0	0	0.00074312	0	16	81					C	99669788	T	C	99669788	3	2	79	1	0	0	0	0	1	0	0	0	17826	1617	56	4	1154	4	ZNF3	7	99669788	Missense_Mutation	SNP	T	TCGA-EJ-7123-01A-11D-1961-08	589987	99669788	59468875	30	4143											
ORAI2	80228	broad.mit.edu	37	chr7	102087367	102087367	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtgcccgtgggcctcatcttCgtggtcttcaccatccactt	4	13	9	15	2	4	0	2	0	2	0	6	0	5	0	4	2	1	0	4	2	0	3	rs144660402		TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr7:102087367C>T	ENST00000356387.2	+	4	868	c.633C>T	c.(631-633)ttC>ttT	p.F211F	ORAI2_ENST00000488996.1_3'UTR|ORAI2_ENST00000473939.1_Silent_p.F211F|ORAI2_ENST00000403646.3_Silent_p.F211F|ORAI2_ENST00000478730.2_Silent_p.F211F	NM_001126340.1|NM_001271818.1|NM_001271819.1|NM_032831.3	NP_001119812.1|NP_001258747.1|NP_001258748.1|NP_116220.1	Q96SN7	ORAI2_HUMAN	ORAI calcium release-activated calcium modulator 2	211						growth cone (GO:0030426)|integral component of membrane (GO:0016021)				autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(1)|lung(4)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	15						GCCTCATCTTCGTGGTCTTCA	0.667													C|||	1	0.000199681	0	0	5008	,	,		15618	0		0.001	False		,,,				2504	0					ENST00000356387.2																			0				autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(1)|lung(4)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	15						c.(631-633)ttC>ttT		ORAI calcium release-activated calcium modulator 2		C	,	0,4406		0,0,2203	42	36	38		633,633	0.3	1	7	dbSNP_134	38	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	ORAI2	NM_001126340.1,NM_032831.2	,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,	211/255,211/255	102087367	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	80228					integral to membrane	protein binding	g.chr7:102087367C>T	AF258552	CCDS5722.1	7q22.1	2007-08-14	2007-08-14	2007-08-14	ENSG00000160991	ENSG00000160991		"ORAI calcium release-activated calcium modulators"	21667	protein-coding gene	gene with protein product	"CAP-binding protein complex interacting protein 2"	610929	"chromosome 7 open reading frame 19", "transmembrane protein 142B"	C7orf19, TMEM142B		16582901	Standard	NM_001126340		Approved	CBCIP2, FLJ12474, FLJ14733, H_NH0514P08.8	uc003uzj.3	Q96SN7	OTTHUMG00000157722	ENST00000356387.2:c.633C>T	7.37:g.102087367C>T						ORAI2_ENST00000473939.1_Silent_p.F211F|ORAI2_ENST00000488996.1_3'UTR|ORAI2_ENST00000403646.3_Silent_p.F211F|ORAI2_ENST00000478730.1_Silent_p.F211F	p.F211F	NM_001126340.1|NM_001271818.1|NM_001271819.1|NM_032831.3	NP_001119812.1|NP_001258747.1|NP_001258748.1|NP_116220.1	Q96SN7	ORAI2_HUMAN			4	868	+			211					Q6IA68|Q8WY94|Q9H9Y3	Silent	SNP	ENST00000356387.2	37	c.633C>T	CCDS5722.1																																																																																				0.667	ORAI2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349509.2	NM_032831		6	36	0	0	0	0.00116845	0	6	36					T	102087367	C	T	102087367	2	4	79	1	0	0	0	0	0	0	0	1	11258	883	31	2		2	ORAI2	7	102087367	Silent	SNP	C	TCGA-EJ-7123-01A-11D-1961-08	2417579	102087367	57051296	31	4144											
ZNF398	57541	broad.mit.edu	37	chr7	148876421	148876421	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agagcgccctttctcctgccCtcagtgtggcattgacttca	6	12	9	14	1	3	2	2	1	1	1	4	2	3	2	3	1	2	1	3	1	0	3			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr7:148876421C>T	ENST00000475153.1	+	6	1724	c.1457C>T	c.(1456-1458)cCt>cTt	p.P486L	ZNF398_ENST00000540950.1_Missense_Mutation_p.P491L|ZNF398_ENST00000491174.1_Missense_Mutation_p.P315L|ZNF398_ENST00000483892.1_Missense_Mutation_p.P315L|ZNF398_ENST00000420008.2_Missense_Mutation_p.P315L|ZNF398_ENST00000335901.4_Missense_Mutation_p.P315L|ZNF398_ENST00000426851.2_Missense_Mutation_p.P315L			Q8TD17	ZN398_HUMAN	zinc finger protein 398	486					positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(14)|ovary(1)	25	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00143)			TTCTCCTGCCCTCAGTGTGGC	0.612																																						ENST00000420008.2																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(14)|ovary(1)	25						c.(943-945)cCt>cTt		zinc finger protein 398							58	51	53					7																	148876421		2203	4300	6503	SO:0001583	missense	0				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:148876421C>T	AB037760	CCDS5894.1, CCDS47739.1	7q35	2013-01-08			ENSG00000197024	ENSG00000197024		"Zinc fingers, C2H2-type", "-"	18373	protein-coding gene	gene with protein product						11779858	Standard	NM_170686		Approved	ZER6, KIAA1339, P51, P71	uc003wfl.3	Q8TD17	OTTHUMG00000158970	ENST00000475153.1:c.1457C>T	7.37:g.148876421C>T	ENSP00000420418:p.Pro486Leu					ZNF398_ENST00000475153.1_Missense_Mutation_p.P486L|ZNF398_ENST00000540950.1_Missense_Mutation_p.P491L|ZNF398_ENST00000335901.4_Missense_Mutation_p.P315L|ZNF398_ENST00000491174.1_Missense_Mutation_p.P315L|ZNF398_ENST00000426851.2_Missense_Mutation_p.P315L|ZNF398_ENST00000483892.1_Missense_Mutation_p.P315L	p.P315L	NM_170686.2	NP_733787.1	Q8TD17	ZN398_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00143)		6	1732	+	Melanoma(164;0.15)		486					A8K384|B4E377|Q8TD18|Q9P2K7|Q9UDV8	Missense_Mutation	SNP	ENST00000475153.1	37	c.944C>T	CCDS5894.1	.	.	.	.	.	.	.	.	.	.	C	19.83	3.900166	0.72754	.	.	ENSG00000197024	ENST00000426851;ENST00000420008;ENST00000475153;ENST00000483892;ENST00000491174;ENST00000540950;ENST00000335901	T;T;T;T;T;T;T	0.15834	2.39;2.39;2.39;2.39;2.39;2.39;2.39	5.18	5.18	0.71444	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.50627	D	0.000116	T	0.33498	0.0865	L	0.43923	1.385	0.43924	D	0.996577	D;D	0.76494	0.987;0.999	P;D	0.72338	0.732;0.977	T	0.01202	-1.1420	10	0.35671	T	0.21	-17.5667	16.2021	0.82088	0.0:1.0:0.0:0.0	.	491;486	B4DXA9;Q8TD17	.;ZN398_HUMAN	L	315;315;486;315;315;491;315	ENSP00000389972:P315L;ENSP00000416751:P315L;ENSP00000420418:P486L;ENSP00000418564:P315L;ENSP00000419391:P315L;ENSP00000439340:P491L;ENSP00000338984:P315L	ENSP00000338984:P315L	P	+	2	0	ZNF398	148507354	0.000000	0.05858	0.997000	0.53966	0.997000	0.91878	0.574000	0.23714	2.418000	0.82041	0.650000	0.86243	CCT		0.612	ZNF398-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352722.2			12	61	0	0	0	0.00136819	0	12	61					T	148876421	C	T	148876421	3	4	79	1	0	0	0	0	1	0	0	0	17882	681	24	3	1479	3	ZNF398	7	148876421	Missense_Mutation	SNP	C	TCGA-EJ-7123-01A-11D-1961-08	46789054	148876421	10262242	32	4145											
AGAP3	116988	broad.mit.edu	37	chr7	150839292	150839292	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagctctggctgtgcaggccGtccgcaccgtccgcggcaac	5	6	13	17	5	1	0	0	0	1	0	3	0	3	0	4	3	3	5	4	3	1	0	rs199958692		TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr7:150839292G>A	ENST00000463381.1	+	13	1505	c.1009G>A	c.(1009-1011)Gtc>Atc	p.V337I	AGAP3_ENST00000397238.2_Missense_Mutation_p.V668I	NM_001281300.1	NP_001268229.1	Q96P47	AGAP3_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 3	632	Small GTPase-like.				cellular response to reactive oxygen species (GO:0034614)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein import into nucleus, translocation (GO:0000060)|regulation of ARF GTPase activity (GO:0032312)|small GTPase mediated signal transduction (GO:0007264)	cell periphery (GO:0071944)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ARF GTPase activator activity (GO:0008060)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|zinc ion binding (GO:0008270)			central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|liver(2)|lung(9)|ovary(2)|prostate(3)|urinary_tract(1)	28						TGTGCAGGCCGTCCGCACCGT	0.622													G|||	1	0.000199681	0	0	5008	,	,		18505	0		0.001	False		,,,				2504	0					ENST00000397238.2																			0				central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|liver(2)|lung(9)|ovary(2)|prostate(3)|urinary_tract(1)	28						c.(2002-2004)Gtc>Atc		ArfGAP with GTPase domain, ankyrin repeat and PH domain 3		G	ILE/VAL	0,4222		0,0,2111	122	132	128		2002	4.9	1	7		128	4,8450		0,4,4223	yes	missense	AGAP3	NM_031946.4	29	0,4,6334	AA,AG,GG		0.0473,0.0,0.0316	benign	668/912	150839292	4,12672	2111	4227	6338	SO:0001583	missense	116988				regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytoplasm|membrane	ARF GTPase activator activity|GTP binding|GTPase activity|zinc ion binding	g.chr7:150839292G>A	AF413079	CCDS43681.1, CCDS55185.1, CCDS64802.1	7q36.1	2013-01-11	2008-09-22	2008-09-22	ENSG00000133612	ENSG00000133612		"ADP-ribosylation factor GTPase activating proteins", "Pleckstrin homology (PH) domain containing", "Ankyrin repeat domain containing"	16923	protein-coding gene	gene with protein product			"centaurin, gamma 3"	CENTG3			Standard	NM_001042535		Approved		uc003wjg.1	Q96P47	OTTHUMG00000158724	ENST00000463381.1:c.1009G>A	7.37:g.150839292G>A	ENSP00000418016:p.Val337Ile					AGAP3_ENST00000463381.1_Missense_Mutation_p.V337I	p.V668I	NM_031946.4	NP_114152.3	Q96P47	AGAP3_HUMAN			15	2002	+			632			Arf-GAP.		B3KNZ8|E9PAL8|Q59EN0|Q96RK3	Missense_Mutation	SNP	ENST00000463381.1	37	c.2002G>A		.	.	.	.	.	.	.	.	.	.	G	0.606	-0.827098	0.02734	0.0	4.73E-4	ENSG00000133612	ENST00000463381;ENST00000397232;ENST00000397238;ENST00000335355	T;T	0.41065	1.01;1.01	4.87	4.87	0.63330	.	0.356142	0.29980	N	0.010708	T	0.12561	0.0305	N	0.00991	-1.07	0.80722	D	1	B;B;B;B	0.21905	0.016;0.062;0.005;0.006	B;B;B;B	0.21917	0.029;0.037;0.003;0.002	T	0.28106	-1.0054	10	0.02654	T	1	.	8.4175	0.32681	0.0837:0.1565:0.7598:0.0	.	632;167;668;337	Q96P47;E7ETI2;Q96P47-4;B3KNZ8	AGAP3_HUMAN;.;.;.	I	337;167;668;632	ENSP00000418016:V337I;ENSP00000380413:V668I	ENSP00000334157:V632I	V	+	1	0	AGAP3	150470225	0.982000	0.34865	0.960000	0.40013	0.232000	0.25224	2.112000	0.41892	2.403000	0.81681	0.655000	0.94253	GTC		0.622	AGAP3-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000351909.2	NM_031946		42	202	0	0	0	0.00361006	0	42	202					A	150839292	G	A	150839292	3	1	79	1	0	0	0	0	1	0	0	0	369	1145	40	1	2127	1	AGAP3	7	150839292	Missense_Mutation	SNP	G	TCGA-EJ-7123-01A-11D-1961-08	1962871	150839292	8299371	33	4146											
MLL3	58508	broad.mit.edu	37	chr7	151879331	151879331	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgagggtggctgagaagtctGagcctgagaaagactatcct	11	9	14	7	0	1	5	0	4	1	3	2	7	2	5	2	2	1	1	2	2	3	1			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr7:151879331G>A	ENST00000262189.6	-	36	5832	c.5614C>T	c.(5614-5616)Cag>Tag	p.Q1872*	KMT2C_ENST00000355193.2_Nonsense_Mutation_p.Q1872*	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	1872	Pro-rich.				histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										TGAGAAGTCTGAGCCTGAGAA	0.512																																						ENST00000355193.2																			0											c.(5614-5616)Cag>Tag		lysine (K)-specific methyltransferase 2C							86	88	87					7																	151879331		2203	4300	6503	SO:0001587	stop_gained	58508							g.chr7:151879331G>A	AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	13726	protein-coding gene	gene with protein product		606833	"myeloid/lymphoid or mixed-lineage leukemia 3"	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.5614C>T	7.37:g.151879331G>A	ENSP00000262189:p.Gln1872*					KMT2C_ENST00000262189.6_Nonsense_Mutation_p.Q1872*	p.Q1872*							36	5832	-								Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Nonsense_Mutation	SNP	ENST00000262189.6	37	c.5614C>T	CCDS5931.1	.	.	.	.	.	.	.	.	.	.	G	48	13.956177	0.99772	.	.	ENSG00000055609	ENST00000262189;ENST00000355193	.	.	.	5.41	5.41	0.78517	.	0.000000	0.42821	D	0.000647	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.06099	T	0.92	.	19.1888	0.93654	0.0:0.0:1.0:0.0	.	.	.	.	X	1872	.	ENSP00000262189:Q1872X	Q	-	1	0	MLL3	151510264	1.000000	0.71417	0.247000	0.24249	0.837000	0.47467	6.700000	0.74619	2.540000	0.85666	0.563000	0.77884	CAG		0.512	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3			27	122	0	0	0	0.00395357	0	27	122					A	151879331	G	A	151879331	4	1	79	1	0	0	0	0	0	1	0	0	9622	1299	45	3	9217	3	MLL3	7	151879331	Nonsense_Mutation	SNP	G	TCGA-EJ-7123-01A-11D-1961-08	1040039	151879331	7259332	34	4147											
KLF4	9314	broad.mit.edu	37	chr9	110250242	110250242	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggtgaagctgcaggtggaggGcgcgctggcagggccgctgc	5	5	21	10	3	0	1	0	1	0	0	0	2	0	2	1	6	3	5	1	6	1	0			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr9:110250242G>T	ENST00000374672.4	-	3	906	c.433C>A	c.(433-435)Ccc>Acc	p.P145T		NM_004235.4	NP_004226.3	O43474	KLF4_HUMAN	Kruppel-like factor 4 (gut)	145	Ser-rich.				cellular response to cycloheximide (GO:0071409)|cellular response to growth factor stimulus (GO:0071363)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to laminar fluid shear stress (GO:0071499)|cellular response to peptide (GO:1901653)|epidermal cell differentiation (GO:0009913)|epidermis morphogenesis (GO:0048730)|fat cell differentiation (GO:0045444)|mesodermal cell fate determination (GO:0007500)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chemokine (C-X-C motif) ligand 2 production (GO:2000342)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of heterotypic cell-cell adhesion (GO:0034115)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-8 biosynthetic process (GO:0045415)|negative regulation of muscle hyperplasia (GO:0014740)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of response to cytokine stimulus (GO:0060761)|negative regulation of smooth muscle cell proliferation (GO:0048662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of hemoglobin biosynthetic process (GO:0046985)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of protein metabolic process (GO:0051247)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|post-embryonic camera-type eye development (GO:0031077)|post-embryonic hemopoiesis (GO:0035166)|regulation of cell differentiation (GO:0045595)|response to retinoic acid (GO:0032526)|stem cell maintenance (GO:0019827)|transcription from RNA polymerase II promoter (GO:0006366)	nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	core promoter proximal region sequence-specific DNA binding (GO:0000987)|double-stranded DNA binding (GO:0003690)|phosphatidylinositol 3-kinase regulator activity (GO:0035014)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding transcription factor activity (GO:0003700)|sequence-specific DNA binding transcription factor recruiting transcription factor activity (GO:0001010)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(3)|endometrium(5)|large_intestine(1)|lung(3)|pancreas(1)|prostate(2)	16						CAGGTGGAGGGCGCGCTGGCA	0.721																																						ENST00000374672.4																			0				breast(1)|central_nervous_system(3)|endometrium(5)|large_intestine(1)|lung(3)|pancreas(1)|prostate(2)	16						c.(433-435)Ccc>Acc		Kruppel-like factor 4 (gut)							13	10	11					9																	110250242		2169	4270	6439	SO:0001583	missense	9314				fat cell differentiation|mesodermal cell fate determination|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|stem cell maintenance|transcription from RNA polymerase II promoter	nucleus	RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor recruiting transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr9:110250242G>T	AF022184	CCDS6770.2	9q31	2013-01-08			ENSG00000136826	ENSG00000136826		"Kruppel-like transcription factors", "Zinc fingers, C2H2-type"	6348	protein-coding gene	gene with protein product		602253				9422764, 16372018	Standard	NM_004235		Approved	EZF, GKLF	uc004bdg.3	O43474	OTTHUMG00000020449	ENST00000374672.4:c.433C>A	9.37:g.110250242G>T	ENSP00000363804:p.Pro145Thr						p.P145T	NM_004235.4	NP_004226.3	O43474	KLF4_HUMAN			3	906	-			145			Ser-rich.		B2R8S4|B3KT79|L0R3I6|L0R4N5|P78338|Q5T3J8|Q5T3J9|Q8N717|Q9UNP3	Missense_Mutation	SNP	ENST00000374672.4	37	c.433C>A	CCDS6770.2	.	.	.	.	.	.	.	.	.	.	G	21.4	4.149794	0.78001	.	.	ENSG00000136826	ENST00000374672;ENST00000411706	T	0.06768	3.26	5.26	5.26	0.73747	.	0.000000	0.42821	D	0.000660	T	0.07234	0.0183	L	0.27053	0.805	0.44508	D	0.997455	P;P	0.48764	0.915;0.903	B;B	0.43052	0.23;0.406	T	0.45366	-0.9266	10	0.21540	T	0.41	.	11.9355	0.52870	0.0803:0.0:0.9197:0.0	.	145;145	O43474;O43474-1	KLF4_HUMAN;.	T	145;136	ENSP00000363804:P145T	ENSP00000363804:P145T	P	-	1	0	KLF4	109290063	1.000000	0.71417	0.998000	0.56505	0.957000	0.61999	2.610000	0.46325	2.442000	0.82660	0.655000	0.94253	CCC		0.721	KLF4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053556.2	NM_004235		3	11	1	0	0.00024832	0.00024832	0.00124581	3	11					T	110250242	G	T	110250242	3	4	79	1	0	0	0	0	1	0	0	0	8348	1203	42	5	1018	5	KLF4	9	110250242	Missense_Mutation	SNP	G	TCGA-EJ-7123-01A-11D-1961-08		110250242	30963189	35	4148											
DUSP13	51207	broad.mit.edu	37	chr10	76855428	76855429	+	Frame_Shift_Ins	INS	-	-	AA																															gtcgtccgcctcgatgccatINSagtactccagggacattcca																										TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr10:76855428_76855429insAA	ENST00000472493.2	-	3	376_377	c.298_299insTT	c.(298-300)tatfs	p.Y100fs	DUSP13_ENST00000372700.3_Frame_Shift_Ins_p.Y150fs|DUSP13_ENST00000605915.1_Frame_Shift_Ins_p.Y122fs|DUSP13_ENST00000491677.2_Frame_Shift_Ins_p.Y229fs|DUSP13_ENST00000607009.1_5'Flank|DUSP13_ENST00000464872.1_Intron|DUSP13_ENST00000478873.2_Frame_Shift_Ins_p.Y236fs|DUSP13_ENST00000372702.3_3'UTR|DUSP13_ENST00000607131.1_Frame_Shift_Ins_p.Y193fs	NM_016364.3	NP_057448.3	Q9UII6	DS13B_HUMAN	dual specificity phosphatase 13	100					meiotic nuclear division (GO:0007126)|protein dephosphorylation (GO:0006470)|spermatogenesis (GO:0007283)		protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1)	8	all_cancers(46;0.0207)|all_epithelial(25;0.00126)|Prostate(51;0.0112)|Ovarian(15;0.0348)					CTCGATGCCATAGTACTCCAGG	0.559																																					NSCLC(174;1655 2059 12324 40663 42963)	ENST00000491677.2																			0				large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1)	8						c.(685-687)tggfs		dual specificity phosphatase 13																																				SO:0001589	frameshift_variant	0					cytoplasm	protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr10:76855428_76855429insAA	AB027004	CCDS7346.1, CCDS31224.1, CCDS53542.1	10q23.1	2013-10-25			ENSG00000079393	ENSG00000079393		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Atypical dual specificity phosphatases"	19681	protein-coding gene	gene with protein product		613191				10585869	Standard	XM_005269883		Approved	BEDP, TMDP, FLJ32450, DUSP13A, DUSP13B	uc001jwu.3	Q6B8I1	OTTHUMG00000018516	ENST00000472493.2:c.298_299insTT	10.37:g.76855428_76855429insAA	ENSP00000444580:p.Tyr100fs					DUSP13_ENST00000472493.2_Frame_Shift_Ins_p.W100fs|DUSP13_ENST00000372700.3_Frame_Shift_Ins_p.W150fs|DUSP13_ENST00000605915.1_Frame_Shift_Ins_p.W122fs|DUSP13_ENST00000478873.2_Frame_Shift_Ins_p.W236fs|DUSP13_ENST00000607131.1_Frame_Shift_Ins_p.W193fs|DUSP13_ENST00000372702.3_3'UTR|DUSP13_ENST00000464872.1_Intron	p.W229fs	NM_001007271.1	NP_001007272.1	Q6B8I1	MDSP_HUMAN			7	1227_1228	-	all_cancers(46;0.0207)|all_epithelial(25;0.00126)|Prostate(51;0.0112)|Ovarian(15;0.0348)		91					A8K776|A8K782|B3KPY1|B3KXT0|B4DUK0|Q5JSC6|Q6IAR0|Q96GC2	Frame_Shift_Ins	INS	ENST00000472493.2	37	c.685_686insTT	CCDS7346.1																																																																																				0.559	DUSP13-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000048786.3			35	178						35	178	---	---	---	---	AA	76855429	-	AA	76855428	7	5	79	1	0	1	1	0	0	0	0	0	4813	1406	49	0	305	0	DUSP13	10	76855428	Frame_Shift_Ins	INS	-	TCGA-EJ-7123-01A-11D-1961-08		76855428	58679319	36	4149											
FAM196A	642938	broad.mit.edu	37	chr10	128973908	128973908	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgtaaacggtggcaacctccGttttaaacaccctcctgagg	10	9	9	13	3	0	1	0	1	0	0	2	1	2	1	4	3	3	3	4	3	5	3	rs377391223	byFrequency	TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr10:128973908G>A	ENST00000522781.1	-	4	1307	c.752C>T	c.(751-753)aCg>aTg	p.T251M	DOCK1_ENST00000280333.6_Intron|FAM196A_ENST00000424811.2_Missense_Mutation_p.T251M	NM_001039762.2	NP_001034851.1	Q6ZSG2	F196A_HUMAN	family with sequence similarity 196, member A	251										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						GGCAACCTCCGTTTTAAACAC	0.657													G|||	2	0.000399361	0	0	5008	,	,		15461	0		0	False		,,,				2504	0.002					ENST00000522781.1																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						c.(751-753)aCg>aTg		family with sequence similarity 196, member A		G	MET/THR,	1,4403	2.1+/-5.4	0,1,2201	21	23	23		752,	4	0.7	10		23	0,8600		0,0,4300	no	missense,intron	DOCK1,FAM196A	NM_001039762.2,NM_001380.3	81,	0,1,6501	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,	251/480,	128973908	1,13003	2202	4300	6502	SO:0001583	missense	642938							g.chr10:128973908G>A		CCDS31312.1	10q26.2	2009-09-11	2009-09-11	2009-09-11		ENSG00000188916			33859	protein-coding gene	gene with protein product			"chromosome 10 open reading frame 141"	C10orf141			Standard	NM_001039762		Approved	FLJ45557	uc001ljv.1	Q6ZSG2		ENST00000522781.1:c.752C>T	10.37:g.128973908G>A	ENSP00000429763:p.Thr251Met					DOCK1_ENST00000280333.6_Intron|FAM196A_ENST00000424811.2_Missense_Mutation_p.T251M	p.T251M	NM_001039762.2	NP_001034851.1	Q6ZSG2	F196A_HUMAN			4	1307	-			251					B2RNT4|B7ZME7	Missense_Mutation	SNP	ENST00000522781.1	37	c.752C>T	CCDS31312.1	.	.	.	.	.	.	.	.	.	.	G	14.57	2.575891	0.45902	2.27E-4	0.0	ENSG00000188916	ENST00000522781;ENST00000424811	T;T	0.47528	0.84;0.84	4.02	4.02	0.46733	.	0.234553	0.43919	D	0.000508	T	0.65101	0.2659	M	0.69823	2.125	0.43381	D	0.995488	D;D	0.89917	1.0;0.999	D;P	0.72982	0.979;0.903	T	0.68659	-0.5350	10	0.87932	D	0	.	12.5521	0.56231	0.0:0.0:0.8332:0.1668	.	251;251	B7ZME7;Q6ZSG2	.;F196A_HUMAN	M	251	ENSP00000429763:T251M;ENSP00000428730:T251M	ENSP00000428730:T251M	T	-	2	0	FAM196A	128863898	0.998000	0.40836	0.702000	0.30337	0.309000	0.27889	2.909000	0.48758	2.530000	0.85305	0.563000	0.77884	ACG		0.657	FAM196A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050978.2	NM_001039762		6	41	0	0	0	0.00116845	0	6	41					A	128973908	G	A	128973908	3	1	79	1	0	0	0	0	1	0	0	0	5528	1145	40	1	699	1	FAM196A	10	128973908	Missense_Mutation	SNP	G	TCGA-EJ-7123-01A-11D-1961-08	52118480	128973908	6560839	37	4150											
MUC5B	727897	broad.mit.edu	37	chr11	1266204	1266204	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	accacggccactacgatcacGgccaccggctccaccaccaa	11	3	7	20	4	1	0	1	0	0	0	2	1	2	0	7	3	1	1	7	3	2	1			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	a4dd9f7b-e2a7-40f3-8e19-667f7fd42150	g.chr11:1266204G>A	ENST00000529681.1	+	31	8152	c.8094G>A	c.(8092-8094)acG>acA	p.T2698T	MUC5B_ENST00000447027.1_Silent_p.T2701T|RP11-532E4.2_ENST00000532061.2_RNA	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	2698	11 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.			Missing (in Ref. 6; AAB61398). {ECO:0000305}.	cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		ctacgatcacggccaccggct	0.622																																						ENST00000447027.1																			0				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137						c.(8101-8103)acG>acA		mucin 5B, oligomeric mucus/gel-forming							16	28	24					11																	1266204		1720	3791	5511	SO:0001819	synonymous_variant	727897				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	g.chr11:1266204G>A	U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"Mucins"	7516	protein-coding gene	gene with protein product		600770	"mucin 5, subtype B, tracheobronchial"	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.8094G>A	11.37:g.1266204G>A						MUC5B_ENST00000529681.1_Silent_p.T2698T|RP11-532E4.2_ENST00000532061.2_RNA	p.T2701T			Q9HC84	MUC5B_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)	31	8161	+		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	2698	Missing (in Ref. 6; AAB61398).		11 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.		O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Silent	SNP	ENST00000529681.1	37	c.8103G>A	CCDS44515.2																																																																																				0.622	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093		3	9	0	0	0	0.000602214	0	3	9					A	1266204	G	A	1266204	2	1	79	1	0	0	0	0	0	0	0	1	9979	1103	39	2		2	MUC5B	11	1266204	Silent	SNP	G	TCGA-EJ-7123-01A-11D-1961-08		1266204	133740312	38	4151											
ATL3	25923	broad.mit.edu	37	chr11	63398754	63398754	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgaagacgttcttgctacCattgtgcttgcagaagttct	8	14	10	9	1	2	3	0	1	2	2	2	3	2	3	1	0	4	6	1	0	3	6			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr11:63398754C>T	ENST00000398868.3	-	12	1573	c.1297G>A	c.(1297-1299)Ggt>Agt	p.G433S	ATL3_ENST00000332645.4_Missense_Mutation_p.G460S|ATL3_ENST00000538786.1_Missense_Mutation_p.G415S	NM_015459.3	NP_056274.3	Q6DD88	ATLA3_HUMAN	atlastin GTPase 3	433					endoplasmic reticulum organization (GO:0007029)|Golgi organization (GO:0007030)|GTP catabolic process (GO:0006184)|protein homooligomerization (GO:0051260)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)			endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	11						TTCTTGCTACCATTGTGCTTG	0.493																																						ENST00000398868.3																			0				endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	11						c.(1297-1299)Ggt>Agt		atlastin GTPase 3							126	126	126					11																	63398754		1941	4153	6094	SO:0001583	missense	25923				endoplasmic reticulum organization|Golgi organization|protein homooligomerization	endoplasmic reticulum membrane|integral to membrane	GTP binding|GTPase activity|identical protein binding	g.chr11:63398754C>T		CCDS41663.1, CCDS73309.1	11q13.1	2008-09-17			ENSG00000184743	ENSG00000184743			24526	protein-coding gene	gene with protein product		609369				18270207	Standard	XM_005273891		Approved	DKFZP564J0863	uc001nxk.1	Q6DD88	OTTHUMG00000167854	ENST00000398868.3:c.1297G>A	11.37:g.63398754C>T	ENSP00000381844:p.Gly433Ser					ATL3_ENST00000332645.4_Missense_Mutation_p.G460S|ATL3_ENST00000538786.1_Missense_Mutation_p.G415S	p.G433S	NM_015459.3	NP_056274.3	Q6DD88	ATLA3_HUMAN			12	1573	-			433					Q8N7W5|Q9H8Q5|Q9UFL1	Missense_Mutation	SNP	ENST00000398868.3	37	c.1297G>A	CCDS41663.1	.	.	.	.	.	.	.	.	.	.	C	12.60	1.987629	0.35036	.	.	ENSG00000184743	ENST00000398868;ENST00000332645;ENST00000538786	D;D;D	0.91631	-2.88;-2.88;-2.88	5.51	-1.41	0.08941	Guanylate-binding protein, C-terminal (3);	0.549004	0.20320	N	0.094644	T	0.72803	0.3506	N	0.01352	-0.895	0.09310	N	1	B	0.06786	0.001	B	0.09377	0.004	T	0.66756	-0.5843	10	0.44086	T	0.13	-19.328	5.9574	0.19281	0.0:0.4376:0.1341:0.4283	.	433	Q6DD88	ATLA3_HUMAN	S	433;460;415	ENSP00000381844:G433S;ENSP00000329034:G460S;ENSP00000437593:G415S	ENSP00000329034:G460S	G	-	1	0	ATL3	63155330	0.000000	0.05858	0.001000	0.08648	0.968000	0.65278	0.473000	0.22132	0.046000	0.15833	0.655000	0.94253	GGT		0.493	ATL3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396637.1	NM_015459		5	95	0	0	0	0.00116845	0	5	95					T	63398754	C	T	63398754	3	4	79	1	0	0	0	0	1	0	0	0	1108	594	21	3	336	3	ATL3	11	63398754	Missense_Mutation	SNP	C	TCGA-EJ-7123-01A-11D-1961-08	62132550	63398754	71607762	39	4152											
C11orf87	399947	broad.mit.edu	37	chr11	109294695	109294695	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcagcggcagccgcggtggCggggggctgccccgacctgg	3	4	20	14	5	0	0	0	0	0	0	0	1	0	0	4	7	4	3	4	7	0	0			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr11:109294695C>T	ENST00000327419.6	+	2	739	c.336C>T	c.(334-336)ggC>ggT	p.G112G	RP11-708B6.2_ENST00000532992.1_RNA|RP11-708B6.2_ENST00000532929.1_RNA	NM_207645.3	NP_997528.2	Q6NUJ2	CK087_HUMAN	chromosome 11 open reading frame 87	112						integral component of membrane (GO:0016021)				breast(2)|endometrium(1)|large_intestine(5)|lung(5)|ovary(2)|prostate(1)|urinary_tract(1)	17						GCCGCGGTGGCGGGGGGCTGC	0.652																																						ENST00000327419.6																			0				breast(2)|endometrium(1)|large_intestine(5)|lung(5)|ovary(2)|prostate(1)|urinary_tract(1)	17						c.(334-336)ggC>ggT		chromosome 11 open reading frame 87							54	60	58					11																	109294695		2199	4298	6497	SO:0001819	synonymous_variant	399947					integral to membrane		g.chr11:109294695C>T	AB096240, BC035798	CCDS31672.1	11q22.3	2013-12-13	2013-12-13	2013-12-13	ENSG00000185742	ENSG00000185742			33788	protein-coding gene	gene with protein product	"neuronal integral membrane protein 1"					12477932	Standard	NM_207645		Approved	LOH11CR1A, LOC399947, NEURIM1	uc010rwb.2	Q6NUJ2		ENST00000327419.6:c.336C>T	11.37:g.109294695C>T						RP11-708B6.2_ENST00000532929.1_RNA|RP11-708B6.2_ENST00000532992.1_RNA	p.G112G	NM_207645.3	NP_997528.2	Q6NUJ2	CK087_HUMAN			2	739	+			112					B4E169	Silent	SNP	ENST00000327419.6	37	c.336C>T	CCDS31672.1																																																																																				0.652	C11orf87-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390403.1	NM_207645		5	86	0	0	0	0.00116845	0	5	86					T	109294695	C	T	109294695	2	4	79	1	0	0	0	0	0	0	0	1	1669	755	27	1		1	C11orf87	11	109294695	Silent	SNP	C	TCGA-EJ-7123-01A-11D-1961-08	45895941	109294695	25711821	40	4153											
OR6C4	341418	broad.mit.edu	37	chr12	55945169	55945169	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	accttactagacccccacctCcagacccccatgtatttctt	9	11	3	18	0	1	2	0	0	1	2	2	2	2	2	7	0	1	1	7	0	3	5			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr12:55945169C>G	ENST00000394256.2	+	1	187	c.159C>G	c.(157-159)ctC>ctG	p.L53L	RP11-110A12.2_ENST00000556750.1_RNA|RP11-110A12.2_ENST00000555138.1_RNA	NM_001005494.1	NP_001005494.1	Q8NGE1	OR6C4_HUMAN	olfactory receptor, family 6, subfamily C, member 4	53						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|skin(1)	11						ACCCCCACCTCCAGACCCCCA	0.418																																						ENST00000394256.2																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|skin(1)	11						c.(157-159)ctC>ctG		olfactory receptor, family 6, subfamily C, member 4							170	172	171					12																	55945169		2202	4300	6502	SO:0001819	synonymous_variant	341418				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr12:55945169C>G	BK004261	CCDS31827.1	12q14.2	2012-08-09				ENSG00000179626		"GPCR / Class A : Olfactory receptors"	19632	protein-coding gene	gene with protein product							Standard	NM_001005494		Approved		uc010spp.2	Q8NGE1	OTTHUMG00000169959	ENST00000394256.2:c.159C>G	12.37:g.55945169C>G						RP11-110A12.2_ENST00000556750.1_RNA|RP11-110A12.2_ENST00000555138.1_RNA	p.L53L	NM_001005494.1	NP_001005494.1	Q8NGE1	OR6C4_HUMAN			1	187	+			53					A8MZG7|B2RNN2|Q6IFK1	Silent	SNP	ENST00000394256.2	37	c.159C>G	CCDS31827.1																																																																																				0.418	OR6C4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406678.1			32	141	0	0	0	0.00428921	0	32	141					G	55945169	C	G	55945169	2	3	79	1	0	0	0	0	0	0	0	1	11193	842	30	5		5	OR6C4	12	55945169	Silent	SNP	C	TCGA-EJ-7123-01A-11D-1961-08		55945169	77906726	41	4154											
HELB	92797	broad.mit.edu	37	chr12	66698883	66698883	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctacacagaatggtcaggAagagttgttcctagacaatg	13	9	11	8	0	1	3	1	0	0	3	2	4	2	4	2	2	1	2	2	2	5	4			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr12:66698883A>G	ENST00000247815.4	+	2	619	c.560A>G	c.(559-561)gAa>gGa	p.E187G		NM_033647.3	NP_387467.2	Q8NG08	HELB_HUMAN	helicase (DNA) B	187					DNA duplex unwinding (GO:0032508)|DNA replication (GO:0006260)|DNA replication, synthesis of RNA primer (GO:0006269)		ATP binding (GO:0005524)|ATP-dependent 5'-3' DNA helicase activity (GO:0043141)|single-stranded DNA-dependent ATP-dependent DNA helicase activity (GO:0017116)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	40			GBM - Glioblastoma multiforme(2;0.000142)	GBM - Glioblastoma multiforme(28;0.0265)		AATGGTCAGGAAGAGTTGTTC	0.353																																						ENST00000247815.4																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	40						c.(559-561)gAa>gGa		helicase (DNA) B							72	69	70					12																	66698883		2203	4300	6503	SO:0001583	missense	92797				DNA replication, synthesis of RNA primer		ATP binding|ATP-dependent 5'-3' DNA helicase activity|single-stranded DNA-dependent ATP-dependent DNA helicase activity	g.chr12:66698883A>G	AF319995	CCDS8976.1	12q14.2	2009-01-15			ENSG00000127311	ENSG00000127311			17196	protein-coding gene	gene with protein product		614539				12181327	Standard	NM_033647		Approved		uc001sti.3	Q8NG08	OTTHUMG00000169006	ENST00000247815.4:c.560A>G	12.37:g.66698883A>G	ENSP00000247815:p.Glu187Gly						p.E187G	NM_033647.3	NP_387467.2	Q8NG08	HELB_HUMAN	GBM - Glioblastoma multiforme(2;0.000142)	GBM - Glioblastoma multiforme(28;0.0265)	2	619	+			187					A8K4C9|Q4G0T2|Q9H7L5	Missense_Mutation	SNP	ENST00000247815.4	37	c.560A>G	CCDS8976.1	.	.	.	.	.	.	.	.	.	.	A	11.76	1.736080	0.30774	.	.	ENSG00000127311	ENST00000247815	T	0.12465	2.68	4.54	3.42	0.39159	.	1.406020	0.04460	N	0.374339	T	0.10337	0.0253	L	0.27053	0.805	0.09310	N	1	B	0.31125	0.309	B	0.21917	0.037	T	0.14420	-1.0473	9	.	.	.	-2.2485	8.088	0.30784	0.9016:0.0:0.0984:0.0	.	187	Q8NG08	HELB_HUMAN	G	187	ENSP00000247815:E187G	.	E	+	2	0	HELB	64985150	0.001000	0.12720	0.009000	0.14445	0.005000	0.04900	1.329000	0.33770	2.030000	0.59900	0.454000	0.30748	GAA		0.353	HELB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401919.1			10	72	0	0	0	0.000673444	0	10	72					G	66698883	A	G	66698883	3	3	79	1	0	0	0	0	1	0	0	0	7045	246	9	4	566	4	HELB	12	66698883	Missense_Mutation	SNP	A	TCGA-EJ-7123-01A-11D-1961-08	10753714	66698883	67153012	42	4155											
ALDH2	217	broad.mit.edu	37	chr12	112237730	112237730	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atcttcgggccagtgatgcaGatcctgaagttcaagaccat	11	10	10	10	1	2	4	1	2	1	2	4	4	3	4	3	1	1	2	3	1	2	2			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr12:112237730G>A	ENST00000261733.2	+	11	1330	c.1269G>A	c.(1267-1269)caG>caA	p.Q423Q	ALDH2_ENST00000416293.3_Silent_p.Q376Q	NM_000690.3	NP_000681.2	P05091	ALDH2_HUMAN	aldehyde dehydrogenase 2 family (mitochondrial)	423					alcohol metabolic process (GO:0006066)|carbohydrate metabolic process (GO:0005975)|ethanol catabolic process (GO:0006068)|ethanol oxidation (GO:0006069)|neurotransmitter biosynthetic process (GO:0042136)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|xenobiotic metabolic process (GO:0006805)	extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)	aldehyde dehydrogenase (NAD) activity (GO:0004029)|aldehyde dehydrogenase [NAD(P)+] activity (GO:0004030)|electron carrier activity (GO:0009055)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(6)|ovary(2)|prostate(1)|skin(2)|stomach(1)	22					Amyl Nitrite(DB01612)|Benzyl alcohol(DB06770)|Disulfiram(DB00822)|Guanidine(DB00536)|Nitric Oxide(DB00435)|Nitroglycerin(DB00727)	CAGTGATGCAGATCCTGAAGT	0.552			T	HMGA2	leiomyoma																																	ENST00000261733.2				Dom	yes		12	12q24.2	217	T	aldehyde dehydrogenase 2 family (mitochondrial)			M	HMGA2		leiomyoma		0				NS(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(6)|ovary(2)|prostate(1)|skin(2)|stomach(1)	22						c.(1267-1269)caG>caA		aldehyde dehydrogenase 2 family (mitochondrial)	Disulfiram(DB00822)|Guanidine(DB00536)|NADH(DB00157)|Nitroglycerin(DB00727)						67	60	62					12																	112237730		2203	4300	6503	SO:0001819	synonymous_variant	217				carbohydrate metabolic process|ethanol oxidation|neurotransmitter biosynthetic process|xenobiotic metabolic process	mitochondrial matrix	aldehyde dehydrogenase|aldehyde dehydrogenase (NAD) activity|electron carrier activity	g.chr12:112237730G>A	M26760	CCDS9155.1, CCDS55885.1	12q24.12	2007-12-14				ENSG00000111275	1.2.1.3	"Aldehyde dehydrogenases"	404	protein-coding gene	gene with protein product		100650				4015823, 2987944	Standard	NM_000690		Approved		uc001tst.3	P05091	OTTHUMG00000169603	ENST00000261733.2:c.1269G>A	12.37:g.112237730G>A						ALDH2_ENST00000416293.3_Silent_p.Q376Q	p.Q423Q	NM_000690.3	NP_000681.2	P05091	ALDH2_HUMAN			11	1330	+			423					B4DW54|E7EUE5|Q03639|Q6IB13|Q6IV71	Silent	SNP	ENST00000261733.2	37	c.1269G>A	CCDS9155.1																																																																																				0.552	ALDH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405008.1	NM_000690		11	28	0	0	0	0.00185496	0	11	28					A	112237730	G	A	112237730	2	1	79	1	0	0	0	0	0	0	0	1	496	933	33	3		3	ALDH2	12	112237730	Silent	SNP	G	TCGA-EJ-7123-01A-11D-1961-08	45538847	112237730	21614165	43	4156											
DIS3	22894	broad.mit.edu	37	chr13	73347832	73347832	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttaagcttacatttggatatCtggaatttctgggccaacca	11	14	8	8	0	2	0	0	0	2	0	2	2	2	2	2	3	3	1	2	3	5	5			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr13:73347832C>T	ENST00000377767.4	-	8	1329	c.1229G>A	c.(1228-1230)aGa>aAa	p.R410K	DIS3_ENST00000377780.4_Missense_Mutation_p.R380K|DIS3_ENST00000545453.1_Missense_Mutation_p.R248K	NM_014953.3	NP_055768.3	Q9Y2L1	RRP44_HUMAN	DIS3 exosome endoribonuclease and 3'-5' exoribonuclease	410					CUT catabolic process (GO:0071034)|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|positive regulation of GTPase activity (GO:0043547)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|rRNA catabolic process (GO:0016075)|rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|exosome (RNase complex) (GO:0000178)|membrane (GO:0016020)|nuclear exosome (RNase complex) (GO:0000176)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	3'-5'-exoribonuclease activity (GO:0000175)|endonuclease activity (GO:0004519)|guanyl-nucleotide exchange factor activity (GO:0005085)|RNA binding (GO:0003723)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(7)|kidney(5)|large_intestine(10)|lung(6)|prostate(2)|skin(1)	35		Breast(118;0.0074)|Acute lymphoblastic leukemia(28;0.0195)		GBM - Glioblastoma multiforme(99;0.000181)		ATTTGGATATCTGGAATTTCT	0.323										Multiple Myeloma(4;0.011)																												ENST00000377767.4																			0				central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(7)|kidney(5)|large_intestine(10)|lung(6)|prostate(2)|skin(1)	35						c.(1228-1230)aGa>aAa		DIS3 mitotic control homolog (S. cerevisiae)							90	89	90					13																	73347832		2202	4300	6502	SO:0001583	missense	22894				CUT catabolic process|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|rRNA catabolic process|rRNA processing	cytosol|exosome (RNase complex)|nucleolus|nucleoplasm	3'-5'-exoribonuclease activity|endonuclease activity|guanyl-nucleotide exchange factor activity|protein binding|RNA binding	g.chr13:73347832C>T	AB023225	CCDS9447.1, CCDS45057.1	13q21.32	2014-03-05	2014-03-05	2007-01-12	ENSG00000083520	ENSG00000083520			20604	protein-coding gene	gene with protein product	"exosome component 11"	607533	"KIAA1008", "DIS3 mitotic control homolog (S. cerevisiae)"	KIAA1008		11935316, 9562621	Standard	XM_005266294		Approved	dis3p, RRP44, EXOSC11	uc001vix.4	Q9Y2L1	OTTHUMG00000017070	ENST00000377767.4:c.1229G>A	13.37:g.73347832C>T	ENSP00000366997:p.Arg410Lys	Multiple Myeloma(4;0.011)				DIS3_ENST00000377780.4_Missense_Mutation_p.R380K|DIS3_ENST00000545453.1_Missense_Mutation_p.R248K	p.R410K	NM_014953.3	NP_055768.3	Q9Y2L1	RRP44_HUMAN		GBM - Glioblastoma multiforme(99;0.000181)	8	1329	-		Breast(118;0.0074)|Acute lymphoblastic leukemia(28;0.0195)	410					A6NI21|B2RBL2|Q5W0P7|Q5W0P8|Q658Z7|Q7Z481|Q8WWI2|Q9UG36	Missense_Mutation	SNP	ENST00000377767.4	37	c.1229G>A	CCDS9447.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.243153	0.79912	.	.	ENSG00000083520	ENST00000377767;ENST00000377780;ENST00000545453	T;T;T	0.20881	2.04;2.04;2.04	5.49	4.65	0.58169	.	0.040366	0.85682	N	0.000000	T	0.26593	0.0650	L	0.37897	1.145	0.80722	D	1	P;P	0.39862	0.692;0.565	P;B	0.51266	0.664;0.217	T	0.02371	-1.1169	10	0.11485	T	0.65	.	14.6692	0.68932	0.0:0.9297:0.0:0.0703	.	380;410	Q9Y2L1-2;Q9Y2L1	.;RRP44_HUMAN	K	410;380;248	ENSP00000366997:R410K;ENSP00000367011:R380K;ENSP00000440058:R248K	ENSP00000366997:R410K	R	-	2	0	DIS3	72245833	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.373000	0.79623	1.466000	0.48025	0.650000	0.86243	AGA		0.323	DIS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045250.2	NM_014953		10	42	0	0	0	0.000442599	0	10	42					T	73347832	C	T	73347832	3	4	79	1	0	0	0	0	1	0	0	0	4535	913	32	3	1703	3	DIS3	13	73347832	Missense_Mutation	SNP	C	TCGA-EJ-7123-01A-11D-1961-08		73347832	41822046	44	4157											
NGB	58157	broad.mit.edu	37	chr14	77737232	77737232	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgctccagcgggctgcggcTcactgcccgccagctctgcc	3	7	13	18	3	2	0	1	0	1	0	3	0	3	0	4	2	6	4	4	2	0	0			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr14:77737232T>C	ENST00000298352.4	-	1	423	c.49A>G	c.(49-51)Agc>Ggc	p.S17G		NM_021257.3	NP_067080.1	Q9NPG2	NGB_HUMAN	neuroglobin	17	Globin.				apoptotic process (GO:0006915)|oxygen transport (GO:0015671)	mitochondrion (GO:0005739)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxygen binding (GO:0019825)|oxygen transporter activity (GO:0005344)			endometrium(1)|kidney(1)|large_intestine(3)|lung(3)	8			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0273)		GGGCTGCGGCTCACTGCCCGC	0.746																																						ENST00000298352.4																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(3)	8						c.(49-51)Agc>Ggc		neuroglobin							7	7	7					14																	77737232		2116	4159	6275	SO:0001583	missense	58157					hemoglobin complex	heme binding|oxygen binding|oxygen transporter activity	g.chr14:77737232T>C	AJ245946	CCDS9856.1	14q24.3	2014-06-13			ENSG00000165553	ENSG00000165553			14077	protein-coding gene	gene with protein product		605304				11029004, 17210637	Standard	NM_021257		Approved		uc001xtg.1	Q9NPG2	OTTHUMG00000171558	ENST00000298352.4:c.49A>G	14.37:g.77737232T>C	ENSP00000298352:p.Ser17Gly						p.S17G	NM_021257.3	NP_067080.1	Q9NPG2	NGB_HUMAN	Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0273)	1	423	-			17			Globin.			Missense_Mutation	SNP	ENST00000298352.4	37	c.49A>G	CCDS9856.1	.	.	.	.	.	.	.	.	.	.	T	12.07	1.827877	0.32329	.	.	ENSG00000165553	ENST00000298352	D	0.93189	-3.18	4.43	4.43	0.53597	Globin-like (1);Globin, structural domain (1);	0.238021	0.49916	D	0.000136	D	0.85762	0.5772	N	0.15975	0.35	0.40222	D	0.977748	B	0.02656	0.0	B	0.04013	0.001	T	0.81373	-0.0962	10	0.24483	T	0.36	-22.387	12.9587	0.58444	0.0:0.0:0.0:1.0	.	17	Q9NPG2	NGB_HUMAN	G	17	ENSP00000298352:S17G	ENSP00000298352:S17G	S	-	1	0	NGB	76806985	1.000000	0.71417	1.000000	0.80357	0.876000	0.50452	2.632000	0.46511	1.757000	0.51966	0.459000	0.35465	AGC		0.746	NGB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414194.1	NM_021257		2	5	0	0	0	6.4e-05	0	2	5					C	77737232	T	C	77737232	3	2	79	1	0	0	0	0	1	0	0	0	10392	1551	54	4	422	4	NGB	14	77737232	Missense_Mutation	SNP	T	TCGA-EJ-7123-01A-11D-1961-08		77737232	29612308	45	4158											
ADPGK	83440	broad.mit.edu	37	chr15	73045050	73045050	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtggaaatggatcctggtgaGatccgaggctctgcttttac	8	12	13	8	1	1	1	0	1	1	1	3	5	3	3	2	4	2	2	2	4	2	2			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr15:73045050G>A	ENST00000311669.8	-	7	1216	c.1123C>T	c.(1123-1125)Ctc>Ttc	p.L375F	ADPGK_ENST00000567733.1_5'Flank|ADPGK_ENST00000456471.2_Missense_Mutation_p.L101F	NM_031284.4	NP_112574.3	Q9BRR6	ADPGK_HUMAN	ADP-dependent glucokinase	376	ADPK. {ECO:0000255|PROSITE- ProRule:PRU00584}.				glycolytic process (GO:0006096)	extracellular region (GO:0005576)|membrane (GO:0016020)	ADP-specific glucokinase activity (GO:0043843)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|skin(1)	7						ATCCTGGTGAGATCCGAGGCT	0.552																																						ENST00000311669.8																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|skin(1)	7						c.(1123-1125)Ctc>Ttc		ADP-dependent glucokinase							88	86	86					15																	73045050		1999	4165	6164	SO:0001583	missense	83440				glycolysis	extracellular region	ADP-specific glucokinase activity|metal ion binding	g.chr15:73045050G>A	AL136873	CCDS42057.1	15q24.1	2012-07-02			ENSG00000159322	ENSG00000159322			25250	protein-coding gene	gene with protein product		611861				11230166	Standard	NM_031284		Approved	DKFZp434B195, ADP-GK	uc002avf.4	Q9BRR6	OTTHUMG00000172777	ENST00000311669.8:c.1123C>T	15.37:g.73045050G>A	ENSP00000312250:p.Leu375Phe					ADPGK_ENST00000456471.2_Missense_Mutation_p.L101F	p.L375F	NM_031284.4	NP_112574.3	Q9BRR6	ADPGK_HUMAN			7	1216	-			376			ADPK.		Q49AU7|Q8NBI1|Q8WZ90|Q96NF8|Q9H0A7	Missense_Mutation	SNP	ENST00000311669.8	37	c.1123C>T	CCDS42057.1	.	.	.	.	.	.	.	.	.	.	G	25.5	4.641641	0.87859	.	.	ENSG00000159322	ENST00000311669;ENST00000443764;ENST00000456471;ENST00000331065	T;T	0.58506	0.33;0.33	6.02	6.02	0.97574	.	0.000000	0.85682	D	0.000000	T	0.79964	0.4537	M	0.84082	2.675	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;0.999;0.998	T	0.80103	-0.1522	10	0.59425	D	0.04	-30.886	20.5407	0.99260	0.0:0.0:1.0:0.0	.	318;376;375;101	B4DG35;Q9BRR6;Q9BRR6-2;Q9BRR6-4	.;ADPGK_HUMAN;.;.	F	375;295;101;254	ENSP00000312250:L375F;ENSP00000397694:L101F	ENSP00000312250:L375F	L	-	1	0	ADPGK	70832103	1.000000	0.71417	0.998000	0.56505	0.572000	0.35998	9.751000	0.98889	2.865000	0.98341	0.655000	0.94253	CTC		0.552	ADPGK-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000420434.1	NM_031284		11	57	0	0	0	0.00185496	0	11	57					A	73045050	G	A	73045050	3	1	79	1	0	0	0	0	1	0	0	0	330	942	33	3	371	3	ADPGK	15	73045050	Missense_Mutation	SNP	G	TCGA-EJ-7123-01A-11D-1961-08		73045050	29486342	46	4159											
TMEM8A	58986	broad.mit.edu	37	chr16	426140	426140	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgcagacagcaggtaccttgTtggcccgcagggagatggtg	8	8	16	9	1	0	2	0	0	0	2	0	3	0	2	2	4	3	5	2	4	1	3	rs575758267		TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr16:426140T>C	ENST00000431232.2	-	6	1380	c.1220A>G	c.(1219-1221)aAc>aGc	p.N407S	TMEM8A_ENST00000476735.1_5'Flank|TMEM8A_ENST00000250930.3_Missense_Mutation_p.N214S	NM_021259.2	NP_067082.2	Q9HCN3	TMM8A_HUMAN	transmembrane protein 8A	407					cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)				central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)|prostate(1)	14						AGGTACCTTGTTGGCCCGCAG	0.682													T|||	0	0	0	0	5008	,	,		16441	0		0	False		,,,				2504	0					ENST00000431232.2																			0				central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)|prostate(1)	14						c.(1219-1221)aAc>aGc		transmembrane protein 8A							40	37	38					16																	426140		2199	4299	6498	SO:0001583	missense	58986				cell adhesion	integral to plasma membrane		g.chr16:426140T>C	AB045292	CCDS10407.1	16p13.3	2009-06-12	2009-06-12	2009-06-12	ENSG00000129925	ENSG00000129925			17205	protein-coding gene	gene with protein product			"transmembrane protein 6", "transmembrane protein 8 (five membrane-spanning domains)"	TMEM6, TMEM8		11006113	Standard	NM_021259		Approved	M83	uc002cgu.4	Q9HCN3	OTTHUMG00000047996	ENST00000431232.2:c.1220A>G	16.37:g.426140T>C	ENSP00000401338:p.Asn407Ser					TMEM8A_ENST00000250930.3_Missense_Mutation_p.N214S	p.N407S	NM_021259.2	NP_067082.2	Q9HCN3	TMM8A_HUMAN			6	1380	-			407					D3DU49|Q4TT35|Q8WU24|Q96S25|Q9BR03|Q9BT97|Q9H7B9	Missense_Mutation	SNP	ENST00000431232.2	37	c.1220A>G	CCDS10407.1	.	.	.	.	.	.	.	.	.	.	T	17.27	3.347797	0.61183	.	.	ENSG00000129925	ENST00000431232;ENST00000250930	T;T	0.34667	1.79;1.35	4.89	4.89	0.63831	.	0.000000	0.64402	D	0.000001	T	0.54303	0.1850	M	0.80746	2.51	0.80722	D	1	D	0.67145	0.996	P	0.54210	0.745	T	0.63097	-0.6713	10	0.72032	D	0.01	-11.803	14.6721	0.68951	0.0:0.0:0.0:1.0	.	407	Q9HCN3	TMM8A_HUMAN	S	407;214	ENSP00000401338:N407S;ENSP00000250930:N214S	ENSP00000250930:N214S	N	-	2	0	TMEM8A	366141	1.000000	0.71417	0.978000	0.43139	0.078000	0.17371	4.400000	0.59709	2.054000	0.61138	0.533000	0.62120	AAC		0.682	TMEM8A-001	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000109257.2	NM_021259		4	24	0	0	0	0.00024832	0	4	24					C	426140	T	C	426140	3	2	79	1	0	0	0	0	1	0	0	0	16211	1725	60	4	1127	4	TMEM8A	16	426140	Missense_Mutation	SNP	T	TCGA-EJ-7123-01A-11D-1961-08		426140	89928613	47	4160											
NLRC5	84166	broad.mit.edu	37	chr16	57116361	57116361	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ccccattccctgcgacatggCccagcacctgaagagccagg	9	5	10	17	1	0	2	0	1	0	1	1	3	1	2	6	2	3	1	6	2	1	1			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr16:57116361C>T	ENST00000262510.6	+	49	5747	c.5522C>T	c.(5521-5523)gCc>gTc	p.A1841V	NLRC5_ENST00000308149.7_Missense_Mutation_p.A1812V|NLRC5_ENST00000436936.1_3'UTR|NLRC5_ENST00000539144.1_Missense_Mutation_p.A1812V	NM_032206.4	NP_115582.4	Q86WI3	NLRC5_HUMAN	NLR family, CARD domain containing 5	1841					defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of type I interferon production (GO:0032480)|negative regulation of type I interferon-mediated signaling pathway (GO:0060339)|positive regulation of interferon-gamma-mediated signaling pathway (GO:0060335)|positive regulation of MHC class I biosynthetic process (GO:0045345)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340)|regulation of kinase activity (GO:0043549)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)			NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	75		all_neural(199;0.225)				TGCGACATGGCCCAGCACCTG	0.567																																						ENST00000262510.6																			0				NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	75						c.(5521-5523)gCc>gTc		NLR family, CARD domain containing 5							106	94	98					16																	57116361		2198	4300	6498	SO:0001583	missense	84166				defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|regulation of kinase activity	cytosol|nucleus	ATP binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding	g.chr16:57116361C>T	AF389420	CCDS10773.1	16q13	2008-02-05			ENSG00000140853	ENSG00000140853		"Nucleotide-binding domain and leucine rich repeat containing"	29933	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 5", "NOD-like receptor C5"	613537				12615073	Standard	NM_032206		Approved	NOD27, CLR16.1, FLJ21709	uc021tiu.1	Q86WI3	OTTHUMG00000133470	ENST00000262510.6:c.5522C>T	16.37:g.57116361C>T	ENSP00000262510:p.Ala1841Val					NLRC5_ENST00000308149.7_Missense_Mutation_p.A1812V|NLRC5_ENST00000539144.1_Missense_Mutation_p.A1812V|NLRC5_ENST00000436936.1_3'UTR	p.A1841V	NM_032206.4	NP_115582.4	Q86WI3	NLRC5_HUMAN			49	5747	+		all_neural(199;0.225)	1841					B5MEF1|C9JMD8|Q6P4A6|Q86VM7|Q8NF42|Q8TEE2|Q8TEJ1|Q969L7	Missense_Mutation	SNP	ENST00000262510.6	37	c.5522C>T	CCDS10773.1	.	.	.	.	.	.	.	.	.	.	c	12.49	1.954146	0.34471	.	.	ENSG00000140853	ENST00000262510;ENST00000308149;ENST00000539144	T;T;T	0.52295	0.67;0.67;0.67	4.47	1.33	0.21861	.	0.898467	0.09038	N	0.857661	T	0.42291	0.1196	M	0.64630	1.985	0.58432	D	0.999999	B	0.29508	0.246	B	0.28305	0.088	T	0.16012	-1.0417	10	0.34782	T	0.22	.	6.4729	0.22018	0.0:0.6635:0.0:0.3365	.	1841	Q86WI3	NLRC5_HUMAN	V	1841;1812;1812	ENSP00000262510:A1841V;ENSP00000308886:A1812V;ENSP00000441727:A1812V	ENSP00000262510:A1841V	A	+	2	0	NLRC5	55673862	0.996000	0.38824	0.687000	0.30102	0.008000	0.06430	0.459000	0.21908	0.083000	0.17047	-0.213000	0.12676	GCC		0.567	NLRC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257346.1	NM_032206		12	62	0	0	0	0.000958276	0	12	62					T	57116361	C	T	57116361	3	4	79	1	0	0	0	0	1	0	0	0	10470	739	26	3	5708	3	NLRC5	16	57116361	Missense_Mutation	SNP	C	TCGA-EJ-7123-01A-11D-1961-08	56690221	57116361	33238392	48	4161											
C17orf78	284099	broad.mit.edu	37	chr17	35736258	35736258	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	ccgcagaaacagctctgcctCctcaagctgtcacctaatcc	10	8	6	17	1	3	1	2	0	1	1	5	1	5	1	5	0	4	3	5	0	3	1			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr17:35736258C>G	ENST00000300618.4	+	3	379	c.329C>G	c.(328-330)tCc>tGc	p.S110C	ACACA_ENST00000416895.1_Intron|C17orf78_ENST00000586700.1_Missense_Mutation_p.S110C|ACACA_ENST00000353139.5_Intron	NM_173625.3	NP_775896.3	Q8N4C9	CQ078_HUMAN	chromosome 17 open reading frame 78	110						integral component of membrane (GO:0016021)				NS(1)|endometrium(1)|large_intestine(1)|lung(2)|stomach(1)	6		Breast(25;0.00295)|Ovarian(249;0.15)				AGCTCTGCCTCCTCAAGCTGT	0.458																																						ENST00000300618.4																			0				NS(1)|endometrium(1)|large_intestine(1)|lung(2)|stomach(1)	6						c.(328-330)tCc>tGc		chromosome 17 open reading frame 78							114	112	113					17																	35736258		1928	4139	6067	SO:0001583	missense	284099					integral to membrane		g.chr17:35736258C>G	BC034672	CCDS45655.1	17q12	2014-05-06			ENSG00000167230	ENSG00000278505			26831	protein-coding gene	gene with protein product						14702039	Standard	NM_173625		Approved	FLJ39647	uc002hns.3	Q8N4C9	OTTHUMG00000188467	ENST00000300618.4:c.329C>G	17.37:g.35736258C>G	ENSP00000300618:p.Ser110Cys					ACACA_ENST00000416895.1_Intron|ACACA_ENST00000353139.5_Intron|C17orf78_ENST00000586700.1_Missense_Mutation_p.S110C	p.S110C	NM_173625.3	NP_775896.3	Q8N4C9	CQ078_HUMAN			3	379	+		Breast(25;0.00295)|Ovarian(249;0.15)	110					Q8N8D2	Missense_Mutation	SNP	ENST00000300618.4	37	c.329C>G	CCDS45655.1	.	.	.	.	.	.	.	.	.	.	C	10.30	1.310805	0.23821	.	.	ENSG00000167230	ENST00000300618;ENST00000321564	T	0.48836	0.8	4.68	0.185	0.15096	.	0.873895	0.09754	N	0.760192	T	0.42017	0.1184	L	0.32530	0.975	0.09310	N	1	D;D	0.57257	0.979;0.979	P;P	0.53313	0.723;0.723	T	0.31166	-0.9953	10	0.66056	D	0.02	-0.2037	2.2749	0.04100	0.3448:0.3879:0.168:0.0993	.	110;110	Q8N4C9-2;Q8N4C9	.;CQ078_HUMAN	C	110	ENSP00000300618:S110C	ENSP00000300618:S110C	S	+	2	0	C17orf78	32810371	0.000000	0.05858	0.102000	0.21198	0.808000	0.45660	0.322000	0.19576	0.549000	0.28973	0.655000	0.94253	TCC		0.458	C17orf78-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451570.2	NM_173625		6	136	0	0	0	0.00198382	0	6	136					G	35736258	C	G	35736258	3	3	79	1	0	0	0	0	1	0	0	0	1883	855	30	5	339	5	C17orf78	17	35736258	Missense_Mutation	SNP	C	TCGA-EJ-7123-01A-11D-1961-08		35736258	45458952	49	4162											
RAB5C	5878	broad.mit.edu	37	chr17	40280784	40280784	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atctcaaacttgactgttgtGtcatccaggcagacagtctg	10	12	9	10	0	3	2	2	1	2	1	5	2	4	2	1	1	1	2	1	1	1	2			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr17:40280784G>T	ENST00000346213.4	-	3	413	c.201C>A	c.(199-201)gaC>gaA	p.D67E	RAB5C_ENST00000393860.3_Missense_Mutation_p.D67E|CTD-2132N18.3_ENST00000592574.1_Missense_Mutation_p.D67E|RAB5C_ENST00000547517.1_Missense_Mutation_p.D100E	NM_004583.3	NP_004574.2	P51148	RAB5C_HUMAN	RAB5C, member RAS oncogene family	67					endosome organization (GO:0007032)|GTP catabolic process (GO:0006184)|plasma membrane to endosome transport (GO:0048227)|protein transport (GO:0015031)|regulation of endocytosis (GO:0030100)|small GTPase mediated signal transduction (GO:0007264)	endocytic vesicle (GO:0030139)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|lipid particle (GO:0005811)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)			large_intestine(1)|lung(4)|prostate(1)|skin(1)	7		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.128)		TGACTGTTGTGTCATCCAGGC	0.577																																						ENST00000393860.3																			0				large_intestine(1)|lung(4)|prostate(1)|skin(1)	7						c.(199-201)gaC>gaA		RAB5C, member RAS oncogene family							84	75	78					17																	40280784		2203	4300	6503	SO:0001583	missense	5878				protein transport|small GTPase mediated signal transduction	early endosome membrane|melanosome|plasma membrane	GTP binding|GTPase activity|protein binding	g.chr17:40280784G>T	U18420	CCDS11419.1, CCDS58551.1	17q21.2	2013-02-15			ENSG00000108774	ENSG00000108774		"RAB, member RAS oncogene"	9785	protein-coding gene	gene with protein product	"RAB, member of RAS oncogene family-like", "RAB5C, member of RAS oncogene family"	604037		RABL		8646882	Standard	NM_004583		Approved	RAB5CL	uc010cxx.3	P51148	OTTHUMG00000169703	ENST00000346213.4:c.201C>A	17.37:g.40280784G>T	ENSP00000345689:p.Asp67Glu					RAB5C_ENST00000346213.4_Missense_Mutation_p.D67E|CTD-2132N18.3_ENST00000592574.1_Missense_Mutation_p.D67E|RAB5C_ENST00000547517.1_Missense_Mutation_p.D100E	p.D67E	NM_201434.2	NP_958842.1	P51148	RAB5C_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.128)	4	517	-		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)	67					F8W1H5|Q6FH55|Q9P0Y5	Missense_Mutation	SNP	ENST00000346213.4	37	c.201C>A	CCDS11419.1	.	.	.	.	.	.	.	.	.	.	G	12.70	2.017374	0.35606	.	.	ENSG00000108774	ENST00000346213;ENST00000393860;ENST00000547517;ENST00000552162;ENST00000550504;ENST00000550406	T;T;T;T;T;T	0.80566	-1.39;-1.39;-1.39;-1.39;-0.5;-1.39	5.17	3.16	0.36331	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	T	0.69369	0.3103	L	0.41236	1.265	0.49915	D	0.999832	B;B	0.28801	0.005;0.223	B;B	0.24269	0.025;0.052	T	0.62854	-0.6766	10	0.33141	T	0.24	-31.9017	9.4373	0.38646	0.2117:0.0:0.7883:0.0	.	100;67	F8W1H5;P51148	.;RAB5C_HUMAN	E	67;67;100;67;67;67	ENSP00000345689:D67E;ENSP00000377440:D67E;ENSP00000447053:D100E;ENSP00000449612:D67E;ENSP00000449777:D67E;ENSP00000448314:D67E	ENSP00000345689:D67E	D	-	3	2	RAB5C	37534310	1.000000	0.71417	1.000000	0.80357	0.932000	0.56968	2.897000	0.48664	0.748000	0.32831	0.563000	0.77884	GAC		0.577	RAB5C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405509.1	NM_004583		12	66	1	0	1.61879e-10	0.00136819	8.40636e-10	12	66					T	40280784	G	T	40280784	3	4	79	1	0	0	0	0	1	0	0	0	12950	1368	48	5	465	5	RAB5C	17	40280784	Missense_Mutation	SNP	G	TCGA-EJ-7123-01A-11D-1961-08	4544526	40280784	40914426	50	4163											
SPOP	8405	broad.mit.edu	37	chr17	47696643	47696643	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cattcaggatggagaatttgAattttgcccgaacttcactc	11	13	8	9	1	2	2	2	1	0	1	3	5	2	3	1	2	2	0	1	2	3	5	rs193920894		TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr17:47696643A>C	ENST00000393328.2	-	5	670	c.305T>G	c.(304-306)tTc>tGc	p.F102C	SPOP_ENST00000513080.1_5'Flank|SPOP_ENST00000503676.1_Missense_Mutation_p.F102C|SPOP_ENST00000393331.3_Missense_Mutation_p.F102C|SPOP_ENST00000347630.2_Missense_Mutation_p.F102C|SPOP_ENST00000504102.1_Missense_Mutation_p.F102C	NM_003563.3	NP_003554.1	O43791	SPOP_HUMAN	speckle-type POZ protein	102	MATH. {ECO:0000255|PROSITE- ProRule:PRU00129}.|Required for nuclear localization.				glucose homeostasis (GO:0042593)|positive regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902237)|positive regulation of type B pancreatic cell apoptotic process (GO:2000676)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	Cul3-RING ubiquitin ligase complex (GO:0031463)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	ubiquitin protein ligase binding (GO:0031625)	p.F102C(2)		endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						GGAGAATTTGAATTTTGCCCG	0.408										Prostate(2;0.17)																												ENST00000393331.3																			2	Substitution - Missense(2)	p.F102C(2)	prostate(2)	endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						c.(304-306)tTc>tGc		speckle-type POZ protein							147	136	140					17																	47696643		2203	4300	6503	SO:0001583	missense	8405				mRNA processing	nucleus	protein binding	g.chr17:47696643A>C	AJ000644	CCDS11551.1	17q21.33	2013-01-09			ENSG00000121067	ENSG00000121067		"BTB/POZ domain containing"	11254	protein-coding gene	gene with protein product		602650				9414087	Standard	NM_001007227		Approved	TEF2, BTBD32	uc002ipg.3	O43791	OTTHUMG00000161496	ENST00000393328.2:c.305T>G	17.37:g.47696643A>C	ENSP00000377001:p.Phe102Cys	Prostate(2;0.17)				SPOP_ENST00000503676.1_Missense_Mutation_p.F102C|SPOP_ENST00000393328.2_Missense_Mutation_p.F102C|SPOP_ENST00000504102.1_Missense_Mutation_p.F102C|SPOP_ENST00000347630.2_Missense_Mutation_p.F102C	p.F102C	NM_001007226.1|NM_001007227.1	NP_001007227.1|NP_001007228.1	O43791	SPOP_HUMAN			6	775	-			102			MATH.|Required for nuclear localization.		B2R6S3|D3DTW7|Q53HJ1	Missense_Mutation	SNP	ENST00000393328.2	37	c.305T>G	CCDS11551.1	.	.	.	.	.	.	.	.	.	.	A	23.1	4.374920	0.82573	.	.	ENSG00000121067	ENST00000393328;ENST00000393331;ENST00000347630;ENST00000504102;ENST00000503676;ENST00000513872;ENST00000509079;ENST00000505581;ENST00000507970;ENST00000514121;ENST00000515508	T;T;T;T;T;T;T;T;T;T	0.68903	-0.36;-0.36;-0.36;-0.36;-0.36;-0.36;-0.36;-0.36;-0.36;-0.36	5.52	5.52	0.82312	TRAF-type (1);TRAF-like (1);MATH (3);	0.000000	0.85682	D	0.000000	D	0.82328	0.5013	M	0.80982	2.52	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.84153	0.0424	10	0.56958	D	0.05	-11.8278	15.4649	0.75390	1.0:0.0:0.0:0.0	.	102	O43791	SPOP_HUMAN	C	102;102;102;102;102;55;102;102;102;102;102	ENSP00000377001:F102C;ENSP00000377004:F102C;ENSP00000240327:F102C;ENSP00000425905:F102C;ENSP00000420908:F102C;ENSP00000426986:F102C;ENSP00000420960:F102C;ENSP00000426262:F102C;ENSP00000424119:F102C;ENSP00000426537:F102C	ENSP00000240327:F102C	F	-	2	0	SPOP	45051642	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.135000	0.94478	2.317000	0.78254	0.460000	0.39030	TTC		0.408	SPOP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365154.2	NM_003563		15	79	0	0	0	0.000566183	0	15	79					C	47696643	A	C	47696643	3	2	79	1	0	0	0	0	1	0	0	0	15083	246	9	5	847	5	SPOP	17	47696643	Missense_Mutation	SNP	A	TCGA-EJ-7123-01A-11D-1961-08	7415859	47696643	33498567	51	4164											
CCDC46	201134	broad.mit.edu	37	chr17	63739297	63739297	+	Frame_Shift_Del	DEL	T	T	-																															tgctgctggctgttctcttcTttcagagaggaaatggttgt																										TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr17:63739297delT	ENST00000392769.2	-	23	2714	c.2496delA	c.(2494-2496)aaafs	p.K832fs	CEP112_ENST00000541355.1_Intron|CEP112_ENST00000537949.1_Frame_Shift_Del_p.K790fs|CEP112_ENST00000535342.2_Frame_Shift_Del_p.K832fs|CEP112_ENST00000580482.1_5'UTR|CEP112_ENST00000317442.8_Frame_Shift_Del_p.K88fs	NM_145036.3	NP_659473.2	Q8N8E3	CE112_HUMAN	centrosomal protein 112kDa	832					receptor localization to synapse (GO:0097120)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|inhibitory synapse (GO:0060077)|plasma membrane (GO:0005886)				NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(8)|lung(11)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	28						TGTTCTCTTCTTTCAGAGAGG	0.408																																						ENST00000392769.2																			0				NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(8)|lung(11)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	28						c.(2494-2496)aafs		centrosomal protein 112kDa							82	83	83					17																	63739297		2203	4300	6503	SO:0001589	frameshift_variant	201134					centrosome		g.chr17:63739297delT	AF458591	CCDS32710.1, CCDS32711.1	17q24.2	2014-02-20	2011-05-06	2011-05-06	ENSG00000154240	ENSG00000154240			28514	protein-coding gene	gene with protein product			"coiled-coil domain containing 46"	CCDC46		21399614	Standard	NM_145036		Approved	MGC33887	uc002jfl.3	Q8N8E3		ENST00000392769.2:c.2496delA	17.37:g.63739297delT	ENSP00000376522:p.Lys832fs					CEP112_ENST00000541355.1_Intron|CEP112_ENST00000537949.1_Frame_Shift_Del_p.K790fs|CEP112_ENST00000535342.2_Frame_Shift_Del_p.K832fs|CEP112_ENST00000580482.1_5'UTR|CEP112_ENST00000317442.8_Frame_Shift_Del_p.K88fs	p.K832fs	NM_145036.3	NP_659473.2	Q8N8E3	CE112_HUMAN			23	2714	-			832					Q6PIB5|Q8NCR4|Q8NFR4	Frame_Shift_Del	DEL	ENST00000392769.2	37	c.2496delA	CCDS32710.1																																																																																				0.408	CEP112-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446582.1	NM_145036		40	152						40	152	---	---	---	---	-	63739297	T	-	63739297	7	5	79	1	0	1	0	1	0	0	0	0	2817	1606	56	0	391	0	CCDC46	17	63739297	Frame_Shift_Del	DEL	T	TCGA-EJ-7123-01A-11D-1961-08	16042654	63739297	17455913	52	4165											
LAMA1	284217	broad.mit.edu	37	chr18	6943285	6943285	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tcaacaatcagagtgatacgGtgtttgcttttgttagcttg	9	16	10	6	1	2	2	2	1	0	1	2	2	2	2	0	1	4	4	0	1	4	6			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr18:6943285G>C	ENST00000389658.3	-	62	9054	c.8961C>G	c.(8959-8961)caC>caG	p.H2987Q		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	2987	Laminin G-like 5. {ECO:0000255|PROSITE- ProRule:PRU00122}.				axon guidance (GO:0007411)|branching involved in salivary gland morphogenesis (GO:0060445)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment of epithelial cell apical/basal polarity (GO:0045198)|extracellular matrix organization (GO:0030198)|morphogenesis of an epithelial sheet (GO:0002011)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|laminin-1 complex (GO:0005606)|laminin-3 complex (GO:0005608)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)				GAGTGATACGGTGTTTGCTTT	0.493																																						ENST00000389658.3																			0				NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205						c.(8959-8961)caC>caG		laminin, alpha 1	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						312	247	269					18																	6943285		2203	4300	6503	SO:0001583	missense	284217				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding	g.chr18:6943285G>C	X58531	CCDS32787.1	18p11.3	2013-03-01			ENSG00000101680	ENSG00000101680		"Laminins"	6481	protein-coding gene	gene with protein product		150320		LAMA		2591971	Standard	NM_005559		Approved		uc002knm.3	P25391	OTTHUMG00000133478	ENST00000389658.3:c.8961C>G	18.37:g.6943285G>C	ENSP00000374309:p.His2987Gln						p.H2987Q	NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN			62	9054	-		Colorectal(10;0.172)	2987			Laminin G-like 5.			Missense_Mutation	SNP	ENST00000389658.3	37	c.8961C>G	CCDS32787.1	.	.	.	.	.	.	.	.	.	.	G	13.47	2.247077	0.39697	.	.	ENSG00000101680	ENST00000389658	T	0.40476	1.03	5.73	2.92	0.33932	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 1 (1);	0.063724	0.64402	D	0.000016	T	0.54062	0.1835	L	0.54965	1.715	0.36009	D	0.837916	D;D	0.89917	1.0;1.0	D;D	0.81914	0.993;0.995	T	0.61850	-0.6978	10	0.72032	D	0.01	.	7.8622	0.29516	0.4589:0.0:0.5411:0.0	.	2987;317	P25391;B3KSD8	LAMA1_HUMAN;.	Q	2987	ENSP00000374309:H2987Q	ENSP00000374309:H2987Q	H	-	3	2	LAMA1	6933285	1.000000	0.71417	0.995000	0.50966	0.128000	0.20619	2.421000	0.44688	0.757000	0.33036	-0.214000	0.12660	CAC		0.493	LAMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257369.1	NM_005559		5	137	0	0	0	0.00198382	0	5	137					C	6943285	G	C	6943285	3	2	79	1	0	0	0	0	1	0	0	0	8605	1252	44	5	274	5	LAMA1	18	6943285	Missense_Mutation	SNP	G	TCGA-EJ-7123-01A-11D-1961-08		6943285	71133963	53	4166											
ZNF576	79177	broad.mit.edu	37	chr19	44103213	44103213	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaccctgccggttgcaaccActactgcccagcccaccttc	7	7	6	21	1	0	0	0	0	0	0	1	0	0	0	7	1	6	2	7	1	2	3			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr19:44103213A>C	ENST00000336564.4	+	3	470	c.316A>C	c.(316-318)Act>Cct	p.T106P	ZNF576_ENST00000525771.1_Missense_Mutation_p.T106P|IRGQ_ENST00000422989.1_5'Flank|SRRM5_ENST00000607544.1_Intron|ZNF576_ENST00000528387.1_Missense_Mutation_p.T106P|ZNF576_ENST00000533118.1_Missense_Mutation_p.T106P|ZNF576_ENST00000529930.1_Missense_Mutation_p.T106P|SRRM5_ENST00000526798.1_Intron|ZNF576_ENST00000391965.2_Missense_Mutation_p.T106P	NM_001145347.1	NP_001138819.1	Q9H609	ZN576_HUMAN	zinc finger protein 576	106					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			endometrium(1)|prostate(1)	2		Prostate(69;0.0199)				GGTTGCAACCACTACTGCCCA	0.652																																						ENST00000336564.4																			0				endometrium(1)|prostate(1)	2						c.(316-318)Act>Cct		zinc finger protein 576							114	94	101					19																	44103213		2203	4300	6503	SO:0001583	missense	79177				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44103213A>C	AK026353	CCDS12625.1	19q13.31	2013-09-20			ENSG00000124444	ENSG00000124444		"Zinc fingers, C2H2-type"	28357	protein-coding gene	gene with protein product						12477932	Standard	NM_024327		Approved	MGC2508	uc002owz.2	Q9H609	OTTHUMG00000165479	ENST00000336564.4:c.316A>C	19.37:g.44103213A>C	ENSP00000337852:p.Thr106Pro					SRRM5_ENST00000607544.1_Intron|ZNF576_ENST00000525771.1_Missense_Mutation_p.T106P|ZNF576_ENST00000529930.1_Missense_Mutation_p.T106P|ZNF576_ENST00000391965.2_Missense_Mutation_p.T106P|ZNF576_ENST00000533118.1_Missense_Mutation_p.T106P|ZNF576_ENST00000528387.1_Missense_Mutation_p.T106P|SRRM5_ENST00000526798.1_Intron	p.T106P	NM_001145347.1	NP_001138819.1	Q9H609	ZN576_HUMAN			3	470	+		Prostate(69;0.0199)	106					Q9BU03	Missense_Mutation	SNP	ENST00000336564.4	37	c.316A>C	CCDS12625.1	.	.	.	.	.	.	.	.	.	.	A	3.172	-0.169878	0.06461	.	.	ENSG00000124444	ENST00000391965;ENST00000525771;ENST00000533118;ENST00000528387;ENST00000529930;ENST00000336564	T;T;T;T;T;T	0.01304	5.03;5.03;5.03;5.03;5.03;5.03	3.86	-2.19	0.07015	.	1.118350	0.06785	N	0.786062	T	0.01189	0.0039	N	0.13168	0.305	0.29673	N	0.842314	B	0.29909	0.261	B	0.26517	0.07	T	0.45264	-0.9273	10	0.62326	D	0.03	0.3315	9.532	0.39200	0.4178:0.0:0.5822:0.0	.	106	Q9H609	ZN576_HUMAN	P	106	ENSP00000375827:T106P;ENSP00000436182:T106P;ENSP00000435899:T106P;ENSP00000435934:T106P;ENSP00000435463:T106P;ENSP00000337852:T106P	ENSP00000337852:T106P	T	+	1	0	ZNF576	48795053	0.000000	0.05858	0.013000	0.15412	0.047000	0.14425	-0.266000	0.08631	-0.556000	0.06134	0.533000	0.62120	ACT		0.652	ZNF576-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384397.1	NM_024327		9	97	0	0	0	0.000274275	0	9	97					C	44103213	A	C	44103213	3	2	79	1	0	0	0	0	1	0	0	0	18005	159	6	5	322	5	ZNF576	19	44103213	Missense_Mutation	SNP	A	TCGA-EJ-7123-01A-11D-1961-08		44103213	15025770	54	4167											
NPBWR2	2832	broad.mit.edu	37	chr20	62737951	62737951	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aggatgaacacgttggtcacCgtcttcatcttgggcgccct	7	11	11	12	3	4	1	2	1	2	0	4	2	4	2	2	3	1	1	2	3	1	3	rs142068571		TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr20:62737951C>T	ENST00000369768.1	-	1	573	c.234G>A	c.(232-234)acG>acA	p.T78T		NM_005286.2	NP_005277.2	P48146	NPBW2_HUMAN	neuropeptides B/W receptor 2	78					G-protein coupled receptor signaling pathway (GO:0007186)|opioid receptor signaling pathway (GO:0038003)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	neuropeptide receptor activity (GO:0008188)|opioid receptor activity (GO:0004985)			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	all_cancers(38;2.58e-11)|all_epithelial(29;6.4e-13)|Lung NSC(23;1.25e-09)|all_lung(23;4.21e-09)					CGTTGGTCACCGTCTTCATCT	0.617																																						ENST00000369768.1																			0				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						c.(232-234)acG>acA		neuropeptides B/W receptor 2		C		1,4401	2.1+/-5.4	0,1,2200	68	56	60		234	-7.5	0	20	dbSNP_134	60	0,8600		0,0,4300	no	coding-synonymous	NPBWR2	NM_005286.2		0,1,6500	TT,TC,CC		0.0,0.0227,0.0077		78/334	62737951	1,13001	2201	4300	6501	SO:0001819	synonymous_variant	2832					plasma membrane	opioid receptor activity|protein binding	g.chr20:62737951C>T	U22492	CCDS13557.1	20q13.3	2012-08-08	2006-02-15	2006-02-15	ENSG00000125522	ENSG00000125522		"GPCR / Class A : Neuropeptide receptors : W/B"	4530	protein-coding gene	gene with protein product		600731	"G protein-coupled receptor 8"	GPR8		12401809	Standard	NM_005286		Approved		uc011abt.2	P48146	OTTHUMG00000033032	ENST00000369768.1:c.234G>A	20.37:g.62737951C>T							p.T78T	NM_005286.2	NP_005277.2	P48146	NPBW2_HUMAN			1	573	-	all_cancers(38;2.58e-11)|all_epithelial(29;6.4e-13)|Lung NSC(23;1.25e-09)|all_lung(23;4.21e-09)		78					Q6NWQ6|Q9H4K3	Silent	SNP	ENST00000369768.1	37	c.234G>A	CCDS13557.1																																																																																				0.617	NPBWR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080300.1	NM_005286		4	17	0	0	0	0.00024832	0	4	17					T	62737951	C	T	62737951	2	4	79	1	0	0	0	0	0	0	0	1	10569	639	23	2		2	NPBWR2	20	62737951	Silent	SNP	C	TCGA-EJ-7123-01A-11D-1961-08		62737951	287569	55	4168											
CELSR1	9620	broad.mit.edu	37	chr22	46930952	46930952	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgggcctgcagggtcagcaCgctgctccccacggccgcat	5	5	14	17	4	1	0	1	0	0	0	2	0	2	0	4	3	3	5	4	3	0	0			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr22:46930952C>T	ENST00000262738.3	-	1	2115	c.2116G>A	c.(2116-2118)Gtg>Atg	p.V706M	CELSR1_ENST00000497509.1_5'Flank|CELSR1_ENST00000395964.1_Missense_Mutation_p.V706M	NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	706	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				anterior/posterior pattern specification (GO:0009952)|apical protein localization (GO:0045176)|central nervous system development (GO:0007417)|establishment of body hair planar orientation (GO:0048105)|establishment of planar polarity (GO:0001736)|establishment of planar polarity of embryonic epithelium (GO:0042249)|G-protein coupled receptor signaling pathway (GO:0007186)|hair follicle development (GO:0001942)|homophilic cell adhesion (GO:0007156)|inner ear morphogenesis (GO:0042472)|lateral sprouting involved in lung morphogenesis (GO:0060490)|locomotory behavior (GO:0007626)|neural tube closure (GO:0001843)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|orthogonal dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060488)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|planar dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060489)|protein localization involved in establishment of planar polarity (GO:0090251)|regulation of actin cytoskeleton organization (GO:0032956)|Rho protein signal transduction (GO:0007266)|wound healing (GO:0042060)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)|protein dimerization activity (GO:0046983)|transmembrane signaling receptor activity (GO:0004888)			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		AGGGTCAGCACGCTGCTCCCC	0.627																																						ENST00000262738.3																			0				breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95						c.(2116-2118)Gtg>Atg		cadherin, EGF LAG seven-pass G-type receptor 1							50	32	38					22																	46930952		2202	4296	6498	SO:0001583	missense	9620				central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein dimerization activity	g.chr22:46930952C>T	AF231024	CCDS14076.1	22q13.31	2014-08-08	2013-02-18		ENSG00000075275	ENSG00000075275		"Cadherins / Major cadherins", "-", "GPCR / Class B : Orphans"	1850	protein-coding gene	gene with protein product	"flamingo homolog 2 (Drosophila)"	604523	"cadherin, EGF LAG seven-pass G-type receptor 1, flamingo (Drosophila) homolog"			9339365	Standard	XM_006724383		Approved	ME2, HFMI2, FMI2, CDHF9	uc003bhw.1	Q9NYQ6	OTTHUMG00000150423	ENST00000262738.3:c.2116G>A	22.37:g.46930952C>T	ENSP00000262738:p.Val706Met					CELSR1_ENST00000395964.1_Missense_Mutation_p.V706M	p.V706M	NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)	1	2115	-		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)	706			Cadherin 5.		O95722|Q5TH47|Q9BWQ5|Q9Y506|Q9Y526	Missense_Mutation	SNP	ENST00000262738.3	37	c.2116G>A	CCDS14076.1	.	.	.	.	.	.	.	.	.	.	C	18.37	3.608103	0.66558	.	.	ENSG00000075275	ENST00000262738;ENST00000395964	T;T	0.02050	4.48;4.48	4.51	4.51	0.55191	Cadherin (3);Cadherin-like (1);	0.000000	0.64402	U	0.000017	T	0.22551	0.0544	H	0.96691	3.865	0.52501	D	0.999953	D	0.89917	1.0	D	0.97110	1.0	T	0.45041	-0.9288	10	0.87932	D	0	.	16.8582	0.86011	0.0:1.0:0.0:0.0	.	706	Q9NYQ6	CELR1_HUMAN	M	706	ENSP00000262738:V706M;ENSP00000379293:V706M	ENSP00000262738:V706M	V	-	1	0	CELSR1	45309616	1.000000	0.71417	1.000000	0.80357	0.620000	0.37586	7.522000	0.81844	2.067000	0.61834	0.305000	0.20034	GTG		0.627	CELSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318037.1	NM_014246		6	28	0	0	0	0.00307968	0	6	28					T	46930952	C	T	46930952	3	4	79	1	0	0	0	0	1	0	0	0	3221	536	19	1	7068	1	CELSR1	22	46930952	Missense_Mutation	SNP	C	TCGA-EJ-7123-01A-11D-1961-08		46930952	4373614	56	4169											
ZBTB48	3104	broad.mit.edu	37	chr1	6648255	6648255	+	Splice_Site	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggcaagaccttccgaacccaAggtgaggtacgccctgcccc	9	5	11	16	2	0	2	0	1	0	1	1	3	1	2	6	3	3	2	6	3	4	2			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr1:6648255A>T	ENST00000377674.4	+	8	1673	c.1515A>T	c.(1513-1515)caA>caT	p.Q505H		NM_001278647.1|NM_001278648.1|NM_005341.2	NP_001265576.1|NP_001265577.1|NP_005332.1	P10074	ZBT48_HUMAN	zinc finger and BTB domain containing 48	505					transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|kidney(1)|large_intestine(1)|liver(2)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	11	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;7.39e-28)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156)		Colorectal(212;1.35e-07)|COAD - Colon adenocarcinoma(227;1.36e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|BRCA - Breast invasive adenocarcinoma(304;0.00109)|STAD - Stomach adenocarcinoma(132;0.017)|READ - Rectum adenocarcinoma(331;0.0642)		TCCGAACCCAAGGTGAGGTAC	0.622																																					Esophageal Squamous(125;1449 1657 4031 29866 49542)	ENST00000377674.4																			0				central_nervous_system(1)|kidney(1)|large_intestine(1)|liver(2)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	11						c.e8+1		zinc finger and BTB domain containing 48							94	81	86					1																	6648255		2203	4300	6503	SO:0001630	splice_region_variant	3104					cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr1:6648255A>T	BC013573	CCDS84.1	1p36.3	2013-01-08	2006-09-20	2006-09-20	ENSG00000204859	ENSG00000204859		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	4930	protein-coding gene	gene with protein product		165270	"GLI-Kruppel family member HKR3"	HKR3		2850480, 8661141	Standard	NM_001278647		Approved	ZNF855	uc001anx.3	P10074	OTTHUMG00000001438	ENST00000377674.4:c.1516+1A>T	1.37:g.6648255A>T							p.Q505_splice	NM_001278647.1|NM_001278648.1|NM_005341.2	NP_001265576.1|NP_001265577.1|NP_005332.1	P10074	ZBT48_HUMAN		Colorectal(212;1.35e-07)|COAD - Colon adenocarcinoma(227;1.36e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|BRCA - Breast invasive adenocarcinoma(304;0.00109)|STAD - Stomach adenocarcinoma(132;0.017)|READ - Rectum adenocarcinoma(331;0.0642)	8	1673	+	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;7.39e-28)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156)	505					Q5SY19	Splice_Site	SNP	ENST00000377674.4	37	c.1516_splice	CCDS84.1	.	.	.	.	.	.	.	.	.	.	A	18.78	3.696053	0.68386	.	.	ENSG00000204859	ENST00000377674	T	0.07908	3.15	5.47	5.47	0.80525	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.099205	0.64402	D	0.000001	T	0.13415	0.0325	N	0.12887	0.27	0.58432	D	0.999998	D	0.76494	0.999	D	0.70716	0.97	T	0.37361	-0.9709	10	0.29301	T	0.29	-16.2131	15.0522	0.71881	1.0:0.0:0.0:0.0	.	505	P10074	ZBT48_HUMAN	H	505	ENSP00000366902:Q505H	ENSP00000366902:Q505H	Q	+	3	2	ZBTB48	6570842	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	5.169000	0.64984	2.216000	0.71823	0.460000	0.39030	CAA		0.622	ZBTB48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004193.1	NM_005341	Missense_Mutation	19	34	0	0	0	0.000132079	0	19	34					T	6648255	A	T	6648255	5	4	80	1	0	0	0	0	0	0	1	0	17546	86	3	5	1541	5	ZBTB48	1	6648255	Splice_Site	SNP	A	TCGA-EJ-7125-01A-11D-1961-08		6648255	242602366	1	4170											
ELAVL4	1996	broad.mit.edu	37	chr1	50642827	50642827	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcagagaaagccatcaacaCtttaaatggactcagactcc	15	8	7	11	0	2	2	2	0	0	2	3	4	3	3	2	1	3	1	2	1	4	2			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr1:50642827C>T	ENST00000371823.4	+	3	541	c.317C>T	c.(316-318)aCt>aTt	p.T106I	ELAVL4_ENST00000448907.2_Missense_Mutation_p.T109I|ELAVL4_ENST00000371824.1_Missense_Mutation_p.T106I|ELAVL4_ENST00000357083.4_Missense_Mutation_p.T123I|ELAVL4_ENST00000492299.1_3'UTR|RP11-567C20.2_ENST00000442477.1_RNA|ELAVL4_ENST00000371827.1_Missense_Mutation_p.T106I|ELAVL4_ENST00000371821.1_Missense_Mutation_p.T111I|ELAVL4_ENST00000371819.1_Missense_Mutation_p.T111I	NM_001144774.1|NM_021952.3	NP_001138246.1|NP_068771.2	P26378	ELAV4_HUMAN	ELAV like neuron-specific RNA binding protein 4	106	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA processing (GO:0006397)|RNA processing (GO:0006396)		AU-rich element binding (GO:0017091)|mRNA 3'-UTR binding (GO:0003730)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			NS(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	32						GCCATCAACACTTTAAATGGA	0.398																																						ENST00000371824.1																			0				NS(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	32						c.(316-318)aCt>aTt		ELAV like neuron-specific RNA binding protein 4							100	92	95					1																	50642827		2203	4300	6503	SO:0001583	missense	1996				mRNA processing		AU-rich element binding|mRNA 3'-UTR binding|nucleotide binding	g.chr1:50642827C>T	AY033998	CCDS553.1, CCDS44138.1, CCDS44139.1, CCDS44140.1, CCDS53315.1, CCDS72788.1	1p34	2013-10-03	2013-10-03		ENSG00000162374	ENSG00000162374		"RNA binding motif (RRM) containing"	3315	protein-coding gene	gene with protein product	"Hu antigen D"	168360	"ELAV (embryonic lethal, abnormal vision, Drosophila)-like 4 (Hu antigen D)", "ELAV (embryonic lethal, abnormal vision, Drosophila)-like 4"	HUD		8222755	Standard	XM_005270581		Approved	PNEM	uc001csb.2	P26378	OTTHUMG00000007877	ENST00000371823.4:c.317C>T	1.37:g.50642827C>T	ENSP00000360888:p.Thr106Ile					ELAVL4_ENST00000492299.1_3'UTR|ELAVL4_ENST00000357083.4_Missense_Mutation_p.T123I|ELAVL4_ENST00000371823.4_Missense_Mutation_p.T106I|ELAVL4_ENST00000448907.2_Missense_Mutation_p.T109I|ELAVL4_ENST00000371827.1_Missense_Mutation_p.T106I|ELAVL4_ENST00000371821.1_Missense_Mutation_p.T111I|ELAVL4_ENST00000371819.1_Missense_Mutation_p.T111I	p.T106I			P26378	ELAV4_HUMAN			3	574	+			106			RRM 1.		B1APY6|B1APY7|B7Z4G7|Q8IYD4|Q96J74|Q96J75|Q9UD24	Missense_Mutation	SNP	ENST00000371823.4	37	c.317C>T	CCDS553.1	.	.	.	.	.	.	.	.	.	.	C	16.72	3.202610	0.58234	.	.	ENSG00000162374	ENST00000448907;ENST00000371827;ENST00000357083;ENST00000371824;ENST00000371823;ENST00000371821;ENST00000371819	T;T;T;T;T;T;T	0.16897	2.31;2.31;2.31;2.31;2.31;2.31;2.31	5.5	5.5	0.81552	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	T	0.22003	0.0530	L	0.41027	1.25	0.80722	D	1	B;P;P;B;B;B;B	0.43607	0.127;0.69;0.812;0.127;0.104;0.059;0.127	B;B;B;B;B;B;B	0.43413	0.092;0.419;0.294;0.092;0.055;0.057;0.092	T	0.00534	-1.1684	10	0.66056	D	0.02	.	19.5916	0.95514	0.0:1.0:0.0:0.0	.	111;111;106;106;123;106;109	B1APY9;B1APY8;P26378-2;P26378;P26378-3;P26378-4;B7Z4G7	.;.;.;ELAV4_HUMAN;.;.;.	I	109;106;123;106;106;111;111	ENSP00000399939:T109I;ENSP00000360892:T106I;ENSP00000349594:T123I;ENSP00000360889:T106I;ENSP00000360888:T106I;ENSP00000360886:T111I;ENSP00000360884:T111I	ENSP00000349594:T123I	T	+	2	0	ELAVL4	50415414	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.273000	0.78527	2.861000	0.98227	0.655000	0.94253	ACT		0.398	ELAVL4-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000021712.1	NM_021952		22	47	0	0	0	0.000295444	0	22	47					T	50642827	C	T	50642827	3	4	80	1	0	0	0	0	1	0	0	0	5052	565	20	3	426	3	ELAVL4	1	50642827	Missense_Mutation	SNP	C	TCGA-EJ-7125-01A-11D-1961-08	43994572	50642827	198607794	2	4171											
NOS1AP	9722	broad.mit.edu	37	chr1	162313729	162313729	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagatggccaggaagatggAgagagcgagaggaacagcaa	16	2	17	6	1	0	4	0	0	0	4	0	9	0	7	1	4	3	2	1	4	3	0			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr1:162313729A>G	ENST00000361897.5	+	6	960	c.558A>G	c.(556-558)ggA>ggG	p.G186G	NOS1AP_ENST00000530878.1_Silent_p.G181G|MIR556_ENST00000384996.1_RNA	NM_001164757.1|NM_014697.2	NP_001158229.1|NP_055512.1	O75052	CAPON_HUMAN	nitric oxide synthase 1 (neuronal) adaptor protein	186	PID. {ECO:0000255|PROSITE- ProRule:PRU00148}.				regulation of apoptotic process (GO:0042981)|regulation of nitric oxide biosynthetic process (GO:0045428)|regulation of nitric-oxide synthase activity (GO:0050999)		nitric-oxide synthase binding (GO:0050998)			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(2)	32	all_hematologic(112;0.203)		BRCA - Breast invasive adenocarcinoma(70;0.0537)			AGGAAGATGGAGAGAGCGAGA	0.587																																						ENST00000361897.5																			0				NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(2)	32						c.(556-558)ggA>ggG		nitric oxide synthase 1 (neuronal) adaptor protein							118	105	109					1																	162313729		2203	4300	6503	SO:0001819	synonymous_variant	9722				regulation of apoptosis|regulation of nitric oxide biosynthetic process|regulation of nitric-oxide synthase activity		nitric-oxide synthase binding|PDZ domain binding	g.chr1:162313729A>G	AB007933	CCDS1237.1, CCDS44267.1, CCDS53421.1	1q23.3	2010-08-20			ENSG00000198929	ENSG00000198929			16859	protein-coding gene	gene with protein product	"C-terminal PDZ domain ligand of neuronal nitric oxide synthase"	605551				9455484, 9459447	Standard	NM_001126060		Approved	KIAA0464, CAPON	uc001gbv.2	O75052	OTTHUMG00000024049	ENST00000361897.5:c.558A>G	1.37:g.162313729A>G						NOS1AP_ENST00000530878.1_Silent_p.G181G	p.G186G	NM_001164757.1|NM_014697.2	NP_001158229.1|NP_055512.1	O75052	CAPON_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.0537)		6	960	+	all_hematologic(112;0.203)		186			PID.		B7ZLF5|O43564|Q3T551|Q5VU95	Silent	SNP	ENST00000361897.5	37	c.558A>G	CCDS1237.1																																																																																				0.587	NOS1AP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060555.2	NM_014697		3	66	0	0	0	6.4e-05	0	3	66					G	162313729	A	G	162313729	2	3	80	1	0	0	0	0	0	0	0	1	10542	291	11	4		4	NOS1AP	1	162313729	Silent	SNP	A	TCGA-EJ-7125-01A-11D-1961-08	111670902	162313729	86936892	3	4172											
ANAPC1	64682	broad.mit.edu	37	chr2	112620054	112620054	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tggtgcaagaaaggagccatTagaattactatttggagaat	15	11	11	4	0	0	3	0	0	0	3	0	5	0	4	1	3	3	1	1	3	7	4	rs540910667		TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr2:112620054T>C	ENST00000341068.3	-	10	1946	c.1174A>G	c.(1174-1176)Aat>Gat	p.N392D		NM_022662.3	NP_073153.1	Q9H1A4	APC1_HUMAN	anaphase promoting complex subunit 1	392					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(7)|lung(16)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	49						AAGGAGCCATTAGAATTACTA	0.378													T|||	1	0.000199681	0	0.0014	5008	,	,		19170	0		0	False		,,,				2504	0					ENST00000341068.3																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(7)|lung(16)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	49						c.(1174-1176)Aat>Gat		anaphase promoting complex subunit 1							55	51	52					2																	112620054		2202	4300	6502	SO:0001583	missense	64682				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm		g.chr2:112620054T>C	AJ278357	CCDS2093.1	2q12.1	2011-06-15			ENSG00000153107	ENSG00000153107		"Anaphase promoting complex subunits"	19988	protein-coding gene	gene with protein product		608473				11179667	Standard	NM_022662		Approved	MCPR, TSG24, APC1	uc002ssh.3	Q9H1A4	OTTHUMG00000131277	ENST00000341068.3:c.1174A>G	2.37:g.112620054T>C	ENSP00000339109:p.Asn392Asp						p.N392D	NM_022662.3	NP_073153.1	Q9H1A4	APC1_HUMAN			10	1946	-			392					Q2M3H8|Q9BSE6|Q9H8D0	Missense_Mutation	SNP	ENST00000341068.3	37	c.1174A>G	CCDS2093.1	.	.	.	.	.	.	.	.	.	.	T	14.97	2.695732	0.48202	.	.	ENSG00000153107	ENST00000341068	.	.	.	5.64	4.49	0.54785	.	0.000000	0.38436	U	0.001691	T	0.35970	0.0950	L	0.44542	1.39	0.31381	N	0.678989	B	0.26002	0.139	B	0.19946	0.027	T	0.35325	-0.9793	9	0.24483	T	0.36	-18.6633	9.7104	0.40243	0.0:0.0781:0.0:0.9219	.	392	Q9H1A4	APC1_HUMAN	D	392	.	ENSP00000339109:N392D	N	-	1	0	ANAPC1	112336525	0.976000	0.34144	0.787000	0.31911	0.997000	0.91878	5.022000	0.64078	2.137000	0.66172	0.533000	0.62120	AAT		0.378	ANAPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254045.2	NM_022662		6	24	0	0	0	8.12818e-05	0	6	24					C	112620054	T	C	112620054	3	2	80	1	0	0	0	0	1	0	0	0	598	1754	61	4	4816	4	ANAPC1	2	112620054	Missense_Mutation	SNP	T	TCGA-EJ-7125-01A-11D-1961-08		112620054	130579319	4	4173											
IDH1	3417	broad.mit.edu	37	chr2	209113113	209113113	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	ttgatccccataagcatgacGacctatgatgataggtttta	12	13	8	8	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	4	6	rs121913499		TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr2:209113113G>C	ENST00000415913.1	-	4	775	c.394C>G	c.(394-396)Cgt>Ggt	p.R132G	IDH1_ENST00000446179.1_Missense_Mutation_p.R132G|IDH1_ENST00000345146.2_Missense_Mutation_p.R132G	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132C(446)|p.R132G(125)|p.R132S(106)|p.G131_R132>VL(1)|p.R132V(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		TAAGCATGACGACCTATGATG	0.398			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"isocitrate dehydrogenase 1 (NADP+), soluble"			O			gliobastoma		679	Substitution - Missense(678)|Complex - compound substitution(1)	p.R132C(446)|p.R132G(125)|p.R132S(106)|p.G131_R132>VL(1)|p.R132V(1)	haematopoietic_and_lymphoid_tissue(280)|central_nervous_system(181)|bone(177)|biliary_tract(21)|soft_tissue(12)|large_intestine(2)|skin(2)|autonomic_ganglia(1)|endometrium(1)|NS(1)|prostate(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)Cgt>Ggt		isocitrate dehydrogenase 1 (NADP+), soluble							81	74	76					2																	209113113		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113113G>C		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.394C>G	2.37:g.209113113G>C	ENSP00000390265:p.Arg132Gly					IDH1_ENST00000345146.2_Missense_Mutation_p.R132G|IDH1_ENST00000446179.1_Missense_Mutation_p.R132G	p.R132G			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	775	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.394C>G	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.286370	0.80803	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	5.57	0.84162	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.96636	0.8902	H	0.99379	4.54	0.80722	D	1	D	0.57899	0.981	P	0.62813	0.907	D	0.98312	1.0524	10	0.87932	D	0	-20.0399	19.5341	0.95242	0.0:0.0:1.0:0.0	.	132	O75874	IDHC_HUMAN	G	132	ENSP00000260985:R132G;ENSP00000410513:R132G;ENSP00000390265:R132G;ENSP00000391075:R132G	ENSP00000260985:R132G	R	-	1	0	IDH1	208821358	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	7.074000	0.76791	2.616000	0.88540	0.555000	0.69702	CGT		0.398	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			20	53	0	0	0	0.000295444	0	20	53					C	209113113	G	C	209113113	3	2	80	1	0	0	0	0	1	0	0	0	7494	1058	37	5	878	5	IDH1	2	209113113	Missense_Mutation	SNP	G	TCGA-EJ-7125-01A-11D-1961-08	96493059	209113113	34086260	5	4174											
ALPI	248	broad.mit.edu	37	chr2	233322371	233322371	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agaatggaatcaggctggacGggaagaacctggtgcaggaa	14	5	16	6	1	1	2	1	0	0	2	1	6	1	6	1	6	2	2	1	6	5	0			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr2:233322371G>A	ENST00000295463.3	+	6	822	c.745G>A	c.(745-747)Ggg>Agg	p.G249R		NM_001631.3	NP_001622.2	P09923	PPBI_HUMAN	alkaline phosphatase, intestinal	249					dephosphorylation (GO:0016311)	anchored component of membrane (GO:0031225)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alkaline phosphatase activity (GO:0004035)|magnesium ion binding (GO:0000287)|protease binding (GO:0002020)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|prostate(2)|upper_aerodigestive_tract(1)	24		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;1.64e-16)|Kidney(3;9.71e-08)|KIRC - Kidney renal clear cell carcinoma(3;2.74e-06)|BRCA - Breast invasive adenocarcinoma(100;0.000763)|Lung(119;0.00564)|LUSC - Lung squamous cell carcinoma(224;0.00746)		CAGGCTGGACGGGAAGAACCT	0.622																																						ENST00000295463.3																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|prostate(2)|upper_aerodigestive_tract(1)	24						c.(745-747)Ggg>Agg		alkaline phosphatase, intestinal							63	63	63					2																	233322371		2203	4300	6503	SO:0001583	missense	248				phosphorylation	anchored to membrane|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding|protein binding	g.chr2:233322371G>A	M15694	CCDS2492.1	2q37.1	2008-02-05			ENSG00000163295	ENSG00000163295	3.1.3.1		437	protein-coding gene	gene with protein product		171740				3468508, 3469665	Standard	NM_001631		Approved		uc002vst.4	P09923	OTTHUMG00000133258	ENST00000295463.3:c.745G>A	2.37:g.233322371G>A	ENSP00000295463:p.Gly249Arg						p.G249R	NM_001631.3	NP_001622.2	P09923	PPBI_HUMAN		Epithelial(121;1.64e-16)|Kidney(3;9.71e-08)|KIRC - Kidney renal clear cell carcinoma(3;2.74e-06)|BRCA - Breast invasive adenocarcinoma(100;0.000763)|Lung(119;0.00564)|LUSC - Lung squamous cell carcinoma(224;0.00746)	6	822	+		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)	249					B2R7Y4|Q53S80|Q9UBV5|Q9UCL2	Missense_Mutation	SNP	ENST00000295463.3	37	c.745G>A	CCDS2492.1	.	.	.	.	.	.	.	.	.	.	G	14.89	2.671447	0.47781	.	.	ENSG00000163295	ENST00000295463	D	0.98090	-4.71	5.17	-4.69	0.03299	Alkaline phosphatase-like, alpha/beta/alpha (1);Alkaline-phosphatase-like, core domain (1);	1.463730	0.03690	N	0.246979	D	0.97436	0.9161	H	0.95745	3.715	0.09310	N	1	P	0.35684	0.515	B	0.34093	0.175	D	0.90962	0.4813	10	0.66056	D	0.02	.	6.8172	0.23837	0.0794:0.3163:0.4971:0.1072	.	249	P09923	PPBI_HUMAN	R	249	ENSP00000295463:G249R	ENSP00000295463:G249R	G	+	1	0	ALPI	233030615	0.009000	0.17119	0.000000	0.03702	0.018000	0.09664	0.920000	0.28705	-0.720000	0.04935	0.561000	0.74099	GGG		0.622	ALPI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257035.2	NM_001631		14	40	0	0	0	0.000308642	0	14	40					A	233322371	G	A	233322371	3	1	80	1	0	0	0	0	1	0	0	0	543	1116	39	2	767	2	ALPI	2	233322371	Missense_Mutation	SNP	G	TCGA-EJ-7125-01A-11D-1961-08	24209258	233322371	9877002	6	4175											
ROBO2	6092	broad.mit.edu	37	chr3	77614158	77614158	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaccatgtaaagaccacccTctatactgtaagaggactgc	15	8	7	11	0	1	2	0	0	1	2	1	3	1	3	3	1	3	2	3	1	6	4			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr3:77614158T>A	ENST00000461745.1	+	12	2636	c.1736T>A	c.(1735-1737)cTc>cAc	p.L579H	ROBO2_ENST00000332191.8_Missense_Mutation_p.L579H|ROBO2_ENST00000487694.3_Missense_Mutation_p.L595H	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	579	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				apoptotic process involved in luteolysis (GO:0061364)|axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|brain development (GO:0007420)|cellular response to hormone stimulus (GO:0032870)|central nervous system development (GO:0007417)|homophilic cell adhesion (GO:0007156)|metanephros development (GO:0001656)|negative regulation of negative chemotaxis (GO:0050925)|negative regulation of synapse assembly (GO:0051964)|olfactory bulb interneuron development (GO:0021891)|positive regulation of axonogenesis (GO:0050772)|retinal ganglion cell axon guidance (GO:0031290)|ureteric bud development (GO:0001657)	axolemma (GO:0030673)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	axon guidance receptor activity (GO:0008046)|identical protein binding (GO:0042802)			NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		AAGACCACCCTCTATACTGTA	0.463																																						ENST00000461745.1																			0				NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117						c.(1735-1737)cTc>cAc		roundabout, axon guidance receptor, homolog 2 (Drosophila)							81	80	81					3																	77614158		1977	4168	6145	SO:0001583	missense	6092				apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding	g.chr3:77614158T>A	AF040991	CCDS43109.1, CCDS54609.1	3p12.3	2013-02-11	2001-11-28		ENSG00000185008	ENSG00000185008		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	10250	protein-coding gene	gene with protein product		602431	"roundabout (axon guidance receptor, Drosophila) homolog 2"			9458045	Standard	NM_002942		Approved	KIAA1568	uc003dpy.4	Q9HCK4	OTTHUMG00000158935	ENST00000461745.1:c.1736T>A	3.37:g.77614158T>A	ENSP00000417164:p.Leu579His					ROBO2_ENST00000332191.8_Missense_Mutation_p.L579H|ROBO2_ENST00000487694.3_Missense_Mutation_p.L595H	p.L579H	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN		Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)	12	2636	+			579			Fibronectin type-III 1.		O43608|Q19AB4|Q19AB5	Missense_Mutation	SNP	ENST00000461745.1	37	c.1736T>A	CCDS43109.1	.	.	.	.	.	.	.	.	.	.	T	11.28	1.591313	0.28357	.	.	ENSG00000185008	ENST00000487694;ENST00000403211;ENST00000343019;ENST00000461745;ENST00000332191;ENST00000398467	T;T;T	0.56776	0.44;0.44;0.44	6.02	6.02	0.97574	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.40222	N	0.001155	T	0.35219	0.0924	N	0.02674	-0.535	0.40650	D	0.982028	B;B;B	0.30664	0.176;0.289;0.176	B;B;B	0.42522	0.39;0.328;0.39	T	0.53947	-0.8366	9	0.27785	T	0.31	.	11.5561	0.50748	0.0:0.0688:0.0:0.9312	.	595;579;579	Q19AB5;F8W703;Q9HCK4	.;.;ROBO2_HUMAN	H	595;595;599;579;579;300	ENSP00000417335:L595H;ENSP00000417164:L579H;ENSP00000327536:L579H	ENSP00000327536:L579H	L	+	2	0	ROBO2	77696848	1.000000	0.71417	0.999000	0.59377	0.343000	0.28985	4.307000	0.59123	2.304000	0.77564	0.528000	0.53228	CTC		0.463	ROBO2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000352600.2	XM_031246		33	44	0	0	0	0.000339439	0	33	44					A	77614158	T	A	77614158	3	1	80	1	0	0	0	0	1	0	0	0	13514	1551	54	5	1784	5	ROBO2	3	77614158	Missense_Mutation	SNP	T	TCGA-EJ-7125-01A-11D-1961-08		77614158	120408272	7	4176											
TOPBP1	11073	broad.mit.edu	37	chr3	133342926	133342926	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cagtgctcggaaacaatgtgTactcctctttcttttacaga	10	14	7	10	1	2	1	0	0	2	1	4	2	3	2	1	1	4	2	1	1	4	4			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr3:133342926T>C	ENST00000260810.5	-	17	3029	c.2898A>G	c.(2896-2898)gtA>gtG	p.V966V		NM_007027.3	NP_008958.2	Q92547	TOPB1_HUMAN	topoisomerase (DNA) II binding protein 1	966	BRCT 6. {ECO:0000255|PROSITE- ProRule:PRU00033}.				cellular response to DNA damage stimulus (GO:0006974)|DNA metabolic process (GO:0006259)|DNA repair (GO:0006281)|response to ionizing radiation (GO:0010212)	chromosome (GO:0005694)|condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|male germ cell nucleus (GO:0001673)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|protein C-terminus binding (GO:0008022)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(14)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	40						AAACAATGTGTACTCCTCTTT	0.383								Other conserved DNA damage response genes																													Ovarian(21;193 658 4424 15423 17362)	ENST00000260810.5																			0				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(14)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	40						c.(2896-2898)gtA>gtG	Other conserved DNA damage response genes	topoisomerase (DNA) II binding protein 1							124	118	120					3																	133342926		1855	4076	5931	SO:0001819	synonymous_variant	11073				DNA repair|response to ionizing radiation	microtubule organizing center|PML body|spindle pole	DNA binding|protein C-terminus binding	g.chr3:133342926T>C	AB019397	CCDS46919.1	3q22.1	2004-06-21			ENSG00000163781	ENSG00000163781			17008	protein-coding gene	gene with protein product		607760				9461304, 9039502	Standard	NM_007027		Approved	KIAA0259, TOP2BP1	uc003eps.3	Q92547	OTTHUMG00000159773	ENST00000260810.5:c.2898A>G	3.37:g.133342926T>C							p.V966V	NM_007027.3	NP_008958.2	Q92547	TOPB1_HUMAN			17	3029	-			966			BRCT 6.		B7Z7W8|Q7LGC1|Q9UEB9	Silent	SNP	ENST00000260810.5	37	c.2898A>G	CCDS46919.1																																																																																				0.383	TOPBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357254.1	NM_007027		21	43	0	0	0	0.000229342	0	21	43					C	133342926	T	C	133342926	2	2	80	1	0	0	0	0	0	0	0	1	16366	1625	57	4		4	TOPBP1	3	133342926	Silent	SNP	T	TCGA-EJ-7125-01A-11D-1961-08	55728768	133342926	64679504	8	4177											
MECOM	2122	broad.mit.edu	37	chr3	168810878	168810878	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccagttcagaatgaggcgacGatgttgctgtacctgtgtgg	8	11	14	8	2	1	2	1	1	0	1	1	4	1	2	2	2	2	4	2	2	2	3	rs540158912		TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr3:168810878G>A	ENST00000464456.1	-	12	3641	c.2441C>T	c.(2440-2442)tCg>tTg	p.S814L	MECOM_ENST00000460814.1_Missense_Mutation_p.S814L|MECOM_ENST00000392736.3_Missense_Mutation_p.S823L|MECOM_ENST00000494292.1_Missense_Mutation_p.S1002L|MECOM_ENST00000264674.3_Missense_Mutation_p.S888L|MECOM_ENST00000472280.1_Missense_Mutation_p.S824L|MECOM_ENST00000468789.1_Missense_Mutation_p.S823L|MECOM_ENST00000433243.2_Missense_Mutation_p.S824L	NM_001164000.1	NP_001157472.1	Q13465	MDS1_HUMAN	MDS1 and EVI1 complex locus	0					regulation of transcription, DNA-templated (GO:0006355)		sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						ATGAGGCGACGATGTTGCTGT	0.388													G|||	1	0.000199681	0	0	5008	,	,		18590	0		0	False		,,,				2504	0.001					ENST00000464456.1																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						c.(2440-2442)tCg>tTg		MDS1 and EVI1 complex locus							105	94	98					3																	168810878		2203	4300	6503	SO:0001583	missense	2122						sequence-specific DNA binding transcription factor activity	g.chr3:168810878G>A	S82592, AF164154	CCDS3205.1, CCDS54669.1, CCDS54670.1	3q26.2	2013-01-08	2009-08-07	2009-08-07	ENSG00000085276	ENSG00000085276		"Zinc fingers, C2H2-type"	3498	protein-coding gene	gene with protein product		165215	"myelodysplasia syndrome 1", "ecotropic viral integration site 1"	MDS1, EVI1		2115646, 8171026, 8643684	Standard	NM_001105077		Approved	MDS1-EVI1, PRDM3	uc011bpj.1	Q03112	OTTHUMG00000158596	ENST00000464456.1:c.2441C>T	3.37:g.168810878G>A	ENSP00000419770:p.Ser814Leu					MECOM_ENST00000264674.3_Missense_Mutation_p.S888L|MECOM_ENST00000433243.2_Missense_Mutation_p.S824L|MECOM_ENST00000460814.1_Missense_Mutation_p.S814L|MECOM_ENST00000472280.1_Missense_Mutation_p.S824L|MECOM_ENST00000494292.1_Missense_Mutation_p.S1002L|MECOM_ENST00000392736.3_Missense_Mutation_p.S823L|MECOM_ENST00000468789.1_Missense_Mutation_p.S823L	p.S814L	NM_001164000.1	NP_001157472.1	Q13465	MDS1_HUMAN			12	3641	-			0					Q13466|Q6FH90	Missense_Mutation	SNP	ENST00000464456.1	37	c.2441C>T	CCDS54669.1	.	.	.	.	.	.	.	.	.	.	G	17.53	3.413161	0.62511	.	.	ENSG00000085276	ENST00000264674;ENST00000392736;ENST00000464456;ENST00000472280;ENST00000494292;ENST00000468789;ENST00000460814;ENST00000433243	T;T;T;T;T;T;T;T	0.07688	3.22;3.21;3.18;3.31;3.17;3.21;3.17;3.31	5.55	5.55	0.83447	.	0.659476	0.13721	N	0.367351	T	0.24198	0.0586	L	0.36672	1.1	0.80722	D	1	D;D;D;D;D	0.89917	0.996;1.0;0.997;1.0;0.993	D;D;D;D;P	0.83275	0.941;0.996;0.914;0.996;0.874	T	0.01074	-1.1460	10	0.72032	D	0.01	-7.4309	19.5152	0.95160	0.0:0.0:1.0:0.0	.	1011;815;1002;888;823	Q03112-3;Q03112-6;E7EQ57;Q03112-4;Q03112	.;.;.;.;EVI1_HUMAN	L	888;823;814;824;1002;823;814;824	ENSP00000264674:S888L;ENSP00000376493:S823L;ENSP00000419770:S814L;ENSP00000420048:S824L;ENSP00000417899:S1002L;ENSP00000419995:S823L;ENSP00000420466:S814L;ENSP00000394302:S824L	ENSP00000264674:S888L	S	-	2	0	MECOM	170293572	1.000000	0.71417	0.806000	0.32338	0.022000	0.10575	9.383000	0.97214	2.615000	0.88500	0.460000	0.39030	TCG		0.388	MECOM-020	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000351519.1	NM_005241, NM_004991		39	64	0	0	0	0.000319135	0	39	64					A	168810878	G	A	168810878	3	1	80	1	0	0	0	0	1	0	0	0	9422	1059	37	2	703	2	MECOM	3	168810878	Missense_Mutation	SNP	G	TCGA-EJ-7125-01A-11D-1961-08	35467952	168810878	29211552	9	4178											
NSA2	10412	broad.mit.edu	37	chr5	74066519	74066519	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aaacagaagtattaaaagttAttcgaacaggaaagagaaag	22	7	9	3	1	0	2	0	0	0	2	1	5	0	3	0	1	2	2	0	1	9	4			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr5:74066519A>C	ENST00000296802.5	+	4	775	c.406A>C	c.(406-408)Att>Ctt	p.I136L	NSA2_ENST00000513356.1_3'UTR	NM_014886.3	NP_055701.1	O95478	NSA2_HUMAN	NSA2 ribosome biogenesis homolog (S. cerevisiae)	136	Lys-rich.				rRNA processing (GO:0006364)	nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(2)|kidney(1)|lung(1)|ovary(1)|skin(1)	7						ATTAAAAGTTATTCGAACAGG	0.368																																						ENST00000296802.5																			0				breast(1)|endometrium(2)|kidney(1)|lung(1)|ovary(1)|skin(1)	7						c.(406-408)Att>Ctt		NSA2 ribosome biogenesis homolog (S. cerevisiae)							85	86	86					5																	74066519		2203	4300	6503	SO:0001583	missense	10412				rRNA processing	nucleolus|ribonucleoprotein complex		g.chr5:74066519A>C	AF077615	CCDS4025.1, CCDS75260.1	5q13.3	2010-01-18			ENSG00000164346	ENSG00000164346			30728	protein-coding gene	gene with protein product	"hairy cell leukemia protein 1", "TGF beta-inducible nuclear protein 1"	612497				11124703, 10486207	Standard	NM_014886		Approved	HUSSY-29, HCLG1, FLJ94393, TINP1	uc003kdk.2	O95478	OTTHUMG00000131273	ENST00000296802.5:c.406A>C	5.37:g.74066519A>C	ENSP00000296802:p.Ile136Leu					NSA2_ENST00000513356.1_3'UTR	p.I136L	NM_014886.3	NP_055701.1	O95478	NSA2_HUMAN			4	775	+			136			Lys-rich.			Missense_Mutation	SNP	ENST00000296802.5	37	c.406A>C	CCDS4025.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	12.37|12.37	1.917195|1.917195	0.33815|0.33815	.|.	.|.	ENSG00000164346|ENSG00000164346	ENST00000296802|ENST00000515524	T|.	0.28666|.	1.6|.	5.63|5.63	4.46|4.46	0.54185|0.54185	.|.	0.043820|.	0.85682|.	D|.	0.000000|.	T|T	0.35595|0.35595	0.0937|0.0937	N|N	0.05050|0.05050	-0.12|-0.12	0.50632|0.50632	D|D	0.99988|0.99988	B|.	0.06786|.	0.001|.	B|.	0.08055|.	0.003|.	T|T	0.08472|0.08472	-1.0720|-1.0720	10|5	0.16896|.	T|.	0.51|.	.|.	14.1705|14.1705	0.65506|0.65506	0.9356:0.0:0.0644:0.0|0.9356:0.0:0.0644:0.0	.|.	136|.	O95478|.	NSA2_HUMAN|.	L|S	136|44	ENSP00000296802:I136L|.	ENSP00000296802:I136L|.	I|Y	+|+	1|2	0|0	NSA2|NSA2	74102275|74102275	1.000000|1.000000	0.71417|0.71417	0.982000|0.982000	0.44146|0.44146	0.947000|0.947000	0.59692|0.59692	4.761000|4.761000	0.62243|0.62243	0.484000|0.484000	0.27630|0.27630	-1.162000|-1.162000	0.01777|0.01777	ATT|TAT		0.368	NSA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254041.3	NM_014886		22	59	0	0	0	0.000375601	0	22	59					C	74066519	A	C	74066519	3	2	80	1	0	0	0	0	1	0	0	0	10668	449	16	5	420	5	NSA2	5	74066519	Missense_Mutation	SNP	A	TCGA-EJ-7125-01A-11D-1961-08		74066519	106848741	10	4179											
FAM188B	84182	broad.mit.edu	37	chr7	30825445	30825445	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caaaagtaagcccatgcagaCggtcccgggtgaaactcctg	12	6	11	12	2	0	2	0	1	0	1	2	2	2	2	3	2	3	2	3	2	4	1			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr7:30825445C>T	ENST00000265299.6	+	4	577	c.500C>T	c.(499-501)aCg>aTg	p.T167M	INMT-FAM188B_ENST00000458257.1_3'UTR	NM_032222.2	NP_115598.2	Q4G0A6	F188B_HUMAN	family with sequence similarity 188, member B	167										endometrium(1)|large_intestine(5)|lung(19)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CCCATGCAGACGGTCCCGGGT	0.458																																						ENST00000265299.6																			0				endometrium(1)|large_intestine(5)|lung(19)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(499-501)aCg>aTg		family with sequence similarity 188, member B							103	107	106					7																	30825445		1864	4117	5981	SO:0001583	missense	84182							g.chr7:30825445C>T	AK026027	CCDS43565.1	7p14.3	2010-08-17	2009-07-14	2009-07-14	ENSG00000106125	ENSG00000106125			21916	protein-coding gene	gene with protein product			"chromosome 7 open reading frame 67"	C7orf67			Standard	NM_032222		Approved	FLJ22374	uc003tbt.3	Q4G0A6	OTTHUMG00000152800	ENST00000265299.6:c.500C>T	7.37:g.30825445C>T	ENSP00000265299:p.Thr167Met					INMT-FAM188B_ENST00000458257.1_3'UTR	p.T167M	NM_032222.2	NP_115598.2	Q4G0A6	F188B_HUMAN			4	577	+			167					Q71AZ7|Q9H6D2	Missense_Mutation	SNP	ENST00000265299.6	37	c.500C>T	CCDS43565.1	.	.	.	.	.	.	.	.	.	.	C	2.990	-0.208276	0.06180	.	.	ENSG00000106125	ENST00000265299	T	0.25085	1.82	5.19	-3.35	0.04928	.	1.455150	0.04142	N	0.319726	T	0.19805	0.0476	L	0.27053	0.805	0.09310	N	1	B	0.15473	0.013	B	0.06405	0.002	T	0.39333	-0.9619	10	0.87932	D	0	-19.3987	11.1119	0.48237	0.0:0.3278:0.0:0.6722	.	167	Q4G0A6	F188B_HUMAN	M	167	ENSP00000265299:T167M	ENSP00000265299:T167M	T	+	2	0	FAM188B	30791970	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-0.734000	0.04893	-0.998000	0.03446	-0.142000	0.14014	ACG		0.458	FAM188B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327962.1	NM_032222		60	97	0	0	0	0.000147903	0	60	97					T	30825445	C	T	30825445	3	4	80	1	0	0	0	0	1	0	0	0	5515	536	19	1	514	1	FAM188B	7	30825445	Missense_Mutation	SNP	C	TCGA-EJ-7125-01A-11D-1961-08		30825445	128313218	11	4180											
SLC26A7	115111	broad.mit.edu	37	chr8	92406217	92406218	+	Frame_Shift_Ins	INS	-	-	T																															cctagactcagagaaaccaaINSttttttttgaatcggtatct																								rs149495064	byFrequency	TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr8:92406217_92406218insT	ENST00000276609.3	+	18	2124_2125	c.1885_1886insT	c.(1885-1887)attfs	p.I629fs	SLC26A7_ENST00000309536.2_Frame_Shift_Ins_p.I629fs|SLC26A7_ENST00000520249.1_3'UTR|SLC26A7_ENST00000523719.1_Frame_Shift_Ins_p.I629fs	NM_001282356.1|NM_052832.2	NP_001269285.1|NP_439897.1			solute carrier family 26 (anion exchanger), member 7											breast(1)|cervix(1)|endometrium(4)|large_intestine(10)|lung(26)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	50			BRCA - Breast invasive adenocarcinoma(11;0.00802)			AGAGAAACCAATTTTTTTTGAA	0.342																																						ENST00000276609.3																			0				breast(1)|cervix(1)|endometrium(4)|large_intestine(10)|lung(26)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	50						c.(1885-1887)tttfs		solute carrier family 26 (anion exchanger), member 7																																				SO:0001589	frameshift_variant	115111					basolateral plasma membrane|integral to membrane|recycling endosome membrane	anion:anion antiporter activity|bicarbonate transmembrane transporter activity|chloride channel activity|oxalate transmembrane transporter activity|sulfate transmembrane transporter activity	g.chr8:92406217_92406218insT	AF331521	CCDS6254.1, CCDS6255.1, CCDS75765.1	8q23	2013-07-18	2013-07-18		ENSG00000147606	ENSG00000147606		"Solute carriers"	14467	protein-coding gene	gene with protein product		608479	"solute carrier family 26, member 7"			11834742, 11829495, 16524946	Standard	NM_134266		Approved	SUT2	uc003yez.3	Q8TE54	OTTHUMG00000164062	ENST00000276609.3:c.1893dupT	8.37:g.92406225_92406225dupT	ENSP00000276609:p.Ile629fs					SLC26A7_ENST00000520249.1_3'UTR|SLC26A7_ENST00000523719.1_Frame_Shift_Ins_p.F629fs|SLC26A7_ENST00000309536.2_Frame_Shift_Ins_p.F629fs	p.F629fs	NM_052832.2	NP_439897.1	Q8TE54	S26A7_HUMAN	BRCA - Breast invasive adenocarcinoma(11;0.00802)		18	2124_2125	+			629			STAS.			Frame_Shift_Ins	INS	ENST00000276609.3	37	c.1885_1886insT	CCDS6254.1																																																																																				0.342	SLC26A7-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377011.1			14	84						14	84	---	---	---	---	T	92406218	-	T	92406217	7	5	80	1	0	1	1	0	0	0	0	0	14522	101	4	0	1951	0	SLC26A7	8	92406217	Frame_Shift_Ins	INS	-	TCGA-EJ-7125-01A-11D-1961-08		92406217	53957805	12	4181											
COL15A1	1306	broad.mit.edu	37	chr9	101785643	101785643	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tttcttctctttccaggcagGagcagaagcagagggctctg	8	11	12	10	0	3	2	0	0	3	2	5	3	4	3	1	3	2	4	1	3	1	3			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr9:101785643G>T	ENST00000375001.3	+	14	2189	c.1766G>T	c.(1765-1767)gGa>gTa	p.G589V		NM_001855.3	NP_001846.3	P39059	COFA1_HUMAN	collagen, type XV, alpha 1	589	Nonhelical region 2 (NC2).				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|signal transduction (GO:0007165)	collagen type XV trimer (GO:0005582)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	107		Acute lymphoblastic leukemia(62;0.0562)				TTCCAGGCAGGAGCAGAAGCA	0.547																																						ENST00000375001.3																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	107						c.(1765-1767)gGa>gTa		collagen, type XV, alpha 1							58	58	58					9																	101785643		2203	4300	6503	SO:0001583	missense	1306				angiogenesis|cell differentiation|signal transduction	collagen type XV|extracellular space|integral to membrane	binding	g.chr9:101785643G>T	L25286	CCDS35081.1	9q21-q22	2013-01-16			ENSG00000204291	ENSG00000204291		"Proteoglycans / Extracellular Matrix : Collagen proteoglycans", "Collagens"	2192	protein-coding gene	gene with protein product	"collagen type XV proteoglycan"	120325				1427836	Standard	NM_001855		Approved		uc004azb.2	P39059	OTTHUMG00000020351	ENST00000375001.3:c.1766G>T	9.37:g.101785643G>T	ENSP00000364140:p.Gly589Val						p.G589V	NM_001855.3	NP_001846.3	P39059	COFA1_HUMAN			14	2189	+		Acute lymphoblastic leukemia(62;0.0562)	589			Nonhelical region 2 (NC2).		Q5T6J4|Q9UDC5|Q9Y4W4	Missense_Mutation	SNP	ENST00000375001.3	37	c.1766G>T	CCDS35081.1	.	.	.	.	.	.	.	.	.	.	G	5.774	0.327203	0.10900	.	.	ENSG00000204291	ENST00000375001;ENST00000536083	D	0.89552	-2.53	3.64	0.748	0.18376	.	2.825870	0.01598	N	0.021884	T	0.78984	0.4370	N	0.22421	0.69	0.09310	N	0.999999	P	0.41313	0.745	B	0.35655	0.207	T	0.69075	-0.5241	10	0.10636	T	0.68	4.0824	6.122	0.20157	0.3389:0.0:0.6611:0.0	.	589	P39059	COFA1_HUMAN	V	589;559	ENSP00000364140:G589V	ENSP00000364140:G589V	G	+	2	0	COL15A1	100825464	0.004000	0.15560	0.000000	0.03702	0.304000	0.27724	-0.363000	0.07593	0.162000	0.19483	0.462000	0.41574	GGA		0.547	COL15A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053386.3	NM_001855		25	43	1	0	6.32553e-13	9.22233e-05	1.66397e-11	25	43					T	101785643	G	T	101785643	3	4	80	1	0	0	0	0	1	0	0	0	3672	1174	41	5	1820	5	COL15A1	9	101785643	Missense_Mutation	SNP	G	TCGA-EJ-7125-01A-11D-1961-08		101785643	39427788	13	4182											
TYSND1	219743	broad.mit.edu	37	chr10	71905802	71905819	+	In_Frame_Del	DEL	CTCTCAGTTGATCCGCCT	CTCTCAGTTGATCCGCCT	-																															cagcgcaaaccagcccagcgCtctcagttgatccgcctcct																								rs370610523|rs572542997|rs562289648|rs553877350	byFrequency	TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	1085fb8c-f27d-4ae2-b012-a581900b5a02	g.chr10:71905802_71905819delCTCTCAGTTGATCCGCCT	ENST00000287078.6	-	1	523_540	c.524_541delAGGCGGATCAACTGAGAG	c.(523-543)gaggcggatcaactgagagcg>gcg	p.EADQLR175del	TYSND1_ENST00000335494.5_In_Frame_Del_p.EADQLR175del|TYSND1_ENST00000494143.1_5'Flank	NM_173555.2	NP_775826.2	Q2T9J0	TYSD1_HUMAN	trypsin domain containing 1	175					protein homooligomerization (GO:0051260)|protein processing (GO:0016485)|proteolysis (GO:0006508)|regulation of fatty acid beta-oxidation (GO:0031998)	membrane (GO:0016020)|peroxisome (GO:0005777)	identical protein binding (GO:0042802)|protease binding (GO:0002020)|serine-type endopeptidase activity (GO:0004252)			endometrium(2)|large_intestine(2)|liver(1)|lung(3)|prostate(1)	9						CAGCCCAGCGCTCTCAGTTGATCCGCCTCCTCGTCCTC	0.711														5	0.000998403	8e-04	0	5008	,	,		14648	0.002		0	False		,,,				2504	0.002					ENST00000287078.6																			0				endometrium(2)|large_intestine(2)|liver(1)|lung(3)|prostate(1)	9						c.(523-543)gcg>g		trypsin domain containing 1			,	1,4251		0,1,2125					,	3.9	1			26	18,8216		0,18,4099	no	coding,coding	TYSND1	NM_173555.2,NM_001040273.1	,	0,19,6224	A1A1,A1R,RR		0.2186,0.0235,0.1522	,	,		19,12467				SO:0001651	inframe_deletion	219743				proteolysis	peroxisome	serine-type endopeptidase activity	g.chr10:71905802_71905819delCTCTCAGTTGATCCGCCT	BC016840	CCDS31213.1, CCDS31214.1	10q22.1	2009-11-06		2006-09-21	ENSG00000156521	ENSG00000156521			28531	protein-coding gene	gene with protein product		611017				17255948	Standard	NM_173555		Approved	MGC34695, NET41	uc001jqr.4	Q2T9J0	OTTHUMG00000018397	ENST00000287078.6:c.524_541delAGGCGGATCAACTGAGAG	10.37:g.71905802_71905819delCTCTCAGTTGATCCGCCT	ENSP00000287078:p.Glu175_Arg180del					TYSND1_ENST00000335494.5_In_Frame_Del_p.EADQLRA175del	p.EADQLRA175del	NM_173555.2	NP_775826.2	Q2T9J0	TYSD1_HUMAN			1	523_540	-			175					Q5SQT4|Q5SQU1|Q8N6H2|Q96AR5	In_Frame_Del	DEL	ENST00000287078.6	37	c.524_541delAGGCGGATCAACTGAGAG	CCDS31213.1																																																																																				0.711	TYSND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048483.1	NM_173555		3	4						3	4	---	---	---	---	-	71905819	CTCTCAGTTGATCCGCCT	-	71905802	7	5	80	1	0	1	0	1	0	0	0	0	16814	797	28	0	1175	0	TYSND1	10	71905802	In_Frame_Del	DEL	CTCTCAGTTGATCCGCCT	TCGA-EJ-7125-01A-11D-1961-08		71905802	63628945	14	4183											
C10orf119	79892	broad.mit.edu	37	chr10	121595126	121595126	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatgcggaatttgttcagcaCggaaggcagcaccgctgaga	12	7	13	9	3	1	1	1	1	0	1	1	4	1	3	1	3	3	5	1	3	3	2			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr10:121595126C>T	ENST00000360003.3	-	14	1808	c.1639G>A	c.(1639-1641)Gtg>Atg	p.V547M	MCMBP_ENST00000369077.3_Missense_Mutation_p.V545M|MCMBP_ENST00000466047.1_5'UTR	NM_001256378.1|NM_001256379.1|NM_024834.3	NP_001243307.1|NP_001243308.1|NP_079110.1	Q9BTE3	MCMBP_HUMAN	minichromosome maintenance complex binding protein	547					DNA-dependent DNA replication (GO:0006261)|mitotic nuclear division (GO:0007067)|sister chromatid cohesion (GO:0007062)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	chromatin binding (GO:0003682)			breast(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(2)|skin(2)	21						TTGTTCAGCACGGAAGGCAGC	0.418																																						ENST00000360003.3																			0				breast(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(2)|skin(2)	21						c.(1639-1641)Gtg>Atg		minichromosome maintenance complex binding protein							121	116	117					10																	121595126		2203	4300	6503	SO:0001583	missense	79892				cell division|DNA-dependent DNA replication|mitosis|S phase of mitotic cell cycle|sister chromatid cohesion	nucleus	chromatin binding	g.chr10:121595126C>T	BC007219	CCDS7617.1, CCDS58099.1	10q26.13	2013-10-11	2011-01-05	2011-01-05	ENSG00000197771	ENSG00000197771			25782	protein-coding gene	gene with protein product		610909	"chromosome 10 open reading frame 119"	C10orf119		17296731	Standard	NM_024834		Approved	FLJ13081, MCM-BP	uc001ler.3	Q9BTE3	OTTHUMG00000019159	ENST00000360003.3:c.1639G>A	10.37:g.121595126C>T	ENSP00000353098:p.Val547Met					MCMBP_ENST00000466047.1_5'UTR|MCMBP_ENST00000369077.3_Missense_Mutation_p.V545M	p.V547M	NM_001256378.1|NM_001256379.1|NM_024834.3	NP_001243307.1|NP_001243308.1|NP_079110.1	Q9BTE3	MCMBP_HUMAN			14	1808	-			547					B3KSP7|Q6IA56|Q9BVT9|Q9H916	Missense_Mutation	SNP	ENST00000360003.3	37	c.1639G>A	CCDS7617.1	.	.	.	.	.	.	.	.	.	.	C	13.59	2.282125	0.40394	.	.	ENSG00000197771	ENST00000360003;ENST00000369077	.	.	.	5.32	3.35	0.38373	.	0.263716	0.38436	N	0.001693	T	0.31071	0.0785	L	0.53249	1.67	0.32772	N	0.503595	P	0.44309	0.832	B	0.37239	0.244	T	0.43750	-0.9372	9	0.31617	T	0.26	-16.9303	6.5399	0.22375	0.0:0.5735:0.2721:0.1543	.	547	Q9BTE3	MCMBP_HUMAN	M	547;545	.	ENSP00000353098:V547M	V	-	1	0	MCMBP	121585116	0.861000	0.29849	0.749000	0.31150	0.972000	0.66771	1.308000	0.33528	1.246000	0.43901	0.313000	0.20887	GTG		0.418	MCMBP-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000050684.1	NM_024834		38	72	0	0	0	0.000228196	0	38	72					T	121595126	C	T	121595126	3	4	80	1	0	0	0	0	1	0	0	0	1588	536	19	1	301	1	C10orf119	10	121595126	Missense_Mutation	SNP	C	TCGA-EJ-7125-01A-11D-1961-08	49689324	121595126	13939621	15	4184											
MUC5B	727897	broad.mit.edu	37	chr11	1255481	1255481	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gactgcagcaacagctcggcGggcacccctggggccgagtg	7	4	16	14	3	0	0	0	0	0	0	1	2	0	0	3	4	4	4	3	4	1	0			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr11:1255481G>A	ENST00000529681.1	+	20	2482	c.2424G>A	c.(2422-2424)gcG>gcA	p.A808A	MUC5B_ENST00000447027.1_Silent_p.A811A	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	808	TIL 3.				cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		ACAGCTCGGCGGGCACCCCTG	0.692																																						ENST00000447027.1																			0				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137						c.(2431-2433)gcG>gcA		mucin 5B, oligomeric mucus/gel-forming							13	16	15					11																	1255481		1957	4121	6078	SO:0001819	synonymous_variant	727897				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	g.chr11:1255481G>A	U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"Mucins"	7516	protein-coding gene	gene with protein product		600770	"mucin 5, subtype B, tracheobronchial"	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.2424G>A	11.37:g.1255481G>A						MUC5B_ENST00000529681.1_Silent_p.A808A	p.A811A			Q9HC84	MUC5B_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)	20	2491	+		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	808	P -> L (in Ref. 2; AAC67545).		TIL 3.		O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Silent	SNP	ENST00000529681.1	37	c.2433G>A	CCDS44515.2																																																																																				0.692	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093		6	16	0	0	0	0.000157383	0	6	16					A	1255481	G	A	1255481	2	1	80	1	0	0	0	0	0	0	0	1	9979	1103	39	2		2	MUC5B	11	1255481	Silent	SNP	G	TCGA-EJ-7125-01A-11D-1961-08		1255481	133751035	16	4185											
FLT3	2322	broad.mit.edu	37	chr13	28610092	28610092	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgggagacttgtctgaacaCttcttccaggtccaagatgg	9	12	11	9	0	2	3	0	1	2	2	4	4	4	3	2	3	1	0	2	3	2	4			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr13:28610092C>T	ENST00000241453.7	-	11	1479	c.1398G>A	c.(1396-1398)aaG>aaA	p.K466K	FLT3_ENST00000380982.4_Silent_p.K466K|FLT3_ENST00000537084.1_Silent_p.K466K	NM_004119.2	NP_004110.2	P36888	FLT3_HUMAN	fms-related tyrosine kinase 3	466					B cell differentiation (GO:0030183)|cellular response to cytokine stimulus (GO:0071345)|common myeloid progenitor cell proliferation (GO:0035726)|cytokine-mediated signaling pathway (GO:0019221)|dendritic cell differentiation (GO:0097028)|hemopoiesis (GO:0030097)|leukocyte homeostasis (GO:0001776)|lymphocyte proliferation (GO:0046651)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of B cell differentiation (GO:0045578)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of tyrosine phosphorylation of STAT protein (GO:0042531)|pro-B cell differentiation (GO:0002328)|pro-T cell differentiation (GO:0002572)|protein autophosphorylation (GO:0046777)|regulation of apoptotic process (GO:0042981)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor signaling pathway (GO:0038084)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|cytokine receptor activity (GO:0004896)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(12329)|kidney(2)|large_intestine(8)|lung(30)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12390	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	Ponatinib(DB08901)|Sorafenib(DB00398)|Sunitinib(DB01268)	TGTCTGAACACTTCTTCCAGG	0.423			"Mis, O"		"AML, ALL"																																	ENST00000380982.4				Dom	yes		13	13q12	2322	"Mis, O"	fms-related tyrosine kinase 3			L			"AML, ALL"		0				NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(12329)|kidney(2)|large_intestine(8)|lung(30)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12390						c.(1396-1398)aaG>aaA		fms-related tyrosine kinase 3	Sorafenib(DB00398)|Sunitinib(DB01268)						216	214	215					13																	28610092		2203	4300	6503	SO:0001819	synonymous_variant	2322				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|vascular endothelial growth factor receptor activity	g.chr13:28610092C>T	U02687	CCDS31953.1	13q12	2014-09-17			ENSG00000122025	ENSG00000122025	2.7.10.1	"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	3765	protein-coding gene	gene with protein product		136351				8394751	Standard	NM_004119		Approved	STK1, FLK2, CD135	uc001urw.3	P36888	OTTHUMG00000016646	ENST00000241453.7:c.1398G>A	13.37:g.28610092C>T						FLT3_ENST00000537084.1_Silent_p.K466K|FLT3_ENST00000241453.7_Silent_p.K466K	p.K466K			P36888	FLT3_HUMAN	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	11	1479	-	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	466					A0AVG9|B7ZLT7|B7ZLT8|F5H0A0|Q13414	Silent	SNP	ENST00000241453.7	37	c.1398G>A	CCDS31953.1																																																																																				0.423	FLT3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000044319.2			8	296	0	0	0	0.000442599	0	8	296					T	28610092	C	T	28610092	2	4	80	1	0	0	0	0	0	0	0	1	5942	564	20	3		3	FLT3	13	28610092	Silent	SNP	C	TCGA-EJ-7125-01A-11D-1961-08		28610092	86559786	17	4186											
GRK1	6011	broad.mit.edu	37	chr13	114325879	114325879	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccgcgcgccctcttctacaCggcgcagatcatctgcggcc	5	7	11	18	6	4	1	1	0	3	1	4	1	4	1	3	2	2	1	3	2	1	2	rs572803634	byFrequency	TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr13:114325879C>T	ENST00000335678.6	+	3	1125	c.893C>T	c.(892-894)aCg>aTg	p.T298M		NM_002929.2	NP_002920.1	Q15835	RK_HUMAN	G protein-coupled receptor kinase 1	298	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		T -> M. {ECO:0000269|PubMed:9268593}.		negative regulation of apoptotic process (GO:0043066)|photoreceptor cell morphogenesis (GO:0008594)|phototransduction, visible light (GO:0007603)|positive regulation of phosphorylation (GO:0042327)|post-embryonic retina morphogenesis in camera-type eye (GO:0060060)|protein autophosphorylation (GO:0046777)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|visual perception (GO:0007601)	photoreceptor disc membrane (GO:0097381)	ATP binding (GO:0005524)|G-protein coupled receptor kinase activity (GO:0004703)|protein kinase activity (GO:0004672)|rhodopsin kinase activity (GO:0050254)	p.T298M(1)		ovary(2)	2	Lung NSC(43;0.0113)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.00696)|all_epithelial(44;0.00347)|all_lung(25;0.0221)|Breast(118;0.0411)|Lung NSC(25;0.0839)	all cancers(43;0.234)			CTCTTCTACACGGCGCAGATC	0.632													c|||	4	0.000798722	0	0.0014	5008	,	,		20021	0.003		0	False		,,,				2504	0					ENST00000335678.6																			1	Substitution - Missense(1)	p.T298M(1)	large_intestine(1)	ovary(2)	2						c.(892-894)aCg>aTg		G protein-coupled receptor kinase 1							38	43	42					13																	114325879		2062	4203	6265	SO:0001583	missense	6011				regulation of G-protein coupled receptor protein signaling pathway|rhodopsin mediated phototransduction|rhodopsin mediated signaling pathway	membrane	ATP binding|G-protein coupled receptor kinase activity|rhodopsin kinase activity|signal transducer activity	g.chr13:114325879C>T			13q34	2013-09-02	2004-03-23	2004-03-24	ENSG00000185974	ENSG00000185974	2.7.11.14		10013	protein-coding gene	gene with protein product		180381	"rhodopsin kinase"	RHOK		8812493, 15057823	Standard	NM_002929		Approved	GPRK1, RK	uc010tkf.2	Q15835	OTTHUMG00000185528	ENST00000335678.6:c.893C>T	13.37:g.114325879C>T	ENSP00000334876:p.Thr298Met						p.T298M	NM_002929.2	NP_002920.1	Q15835	RK_HUMAN	all cancers(43;0.234)		3	1125	+	Lung NSC(43;0.0113)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.00696)|all_epithelial(44;0.00347)|all_lung(25;0.0221)|Breast(118;0.0411)|Lung NSC(25;0.0839)	298		T -> M (in patients with autosomal recessive retinitis pigmentosa; unclear pathological significance).	Protein kinase.		Q53X14	Missense_Mutation	SNP	ENST00000335678.6	37	c.893C>T		.	.	.	.	.	.	.	.	.	.	c	14.31	2.498033	0.44455	.	.	ENSG00000185974	ENST00000335678	T	0.64085	-0.08	4.43	3.29	0.37713	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.224065	0.45867	D	0.000332	T	0.68302	0.2986	.	.	.	0.36088	D	0.84322	D	0.56521	0.976	P	0.56474	0.799	T	0.76222	-0.3038	9	0.87932	D	0	-14.3093	7.8935	0.29693	0.0:0.8345:0.0:0.1655	.	298	Q15835	RK_HUMAN	M	298	ENSP00000334876:T298M	ENSP00000334876:T298M	T	+	2	0	GRK1	113373880	0.019000	0.18553	0.984000	0.44739	0.670000	0.39368	2.143000	0.42187	2.148000	0.66965	0.506000	0.49869	ACG		0.632	GRK1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000470655.1	NM_002929		13	43	0	0	0	0.000219431	0	13	43					T	114325879	C	T	114325879	3	4	80	1	0	0	0	0	1	0	0	0	6790	536	19	1	903	1	GRK1	13	114325879	Missense_Mutation	SNP	C	TCGA-EJ-7125-01A-11D-1961-08	85715787	114325879	843999	18	4187											
TOX4	9878	broad.mit.edu	37	chr14	21961060	21961062	+	In_Frame_Del	DEL	GCT	GCT	-																															cagtgttgcaggcagcagcaGctgctgctgctgctgcttct																								rs571846793		TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr14:21961060_21961062delGCT	ENST00000405508.1	+	8	1561_1563	c.1285_1287delGCT	c.(1285-1287)gctdel	p.A434del	TOX4_ENST00000448790.2_In_Frame_Del_p.A411del|TOX4_ENST00000262709.3_In_Frame_Del_p.A434del			O94842	TOX4_HUMAN	TOX high mobility group box family member 4	434	Gln/Pro-rich.|Poly-Ala.					chromatin (GO:0000785)|nucleus (GO:0005634)|PTW/PP1 phosphatase complex (GO:0072357)	DNA binding (GO:0003677)	p.A429A(1)		large_intestine(8)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	all_cancers(95;0.000465)		Epithelial(56;6.61e-06)|all cancers(55;5.15e-05)	GBM - Glioblastoma multiforme(265;0.0149)		GGCAGCAGCAGCTGCTGCTGCTG	0.581																																						ENST00000405508.1																			1	Substitution - coding silent(1)	p.A429A(1)	large_intestine(1)	large_intestine(8)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						c.(1285-1287)del		TOX high mobility group box family member 4																																				SO:0001651	inframe_deletion	9878					chromatin|nucleus|PTW/PP1 phosphatase complex	DNA binding|protein binding	g.chr14:21961060_21961062delGCT	AB018280	CCDS32043.1	14q11.2	2007-03-20	2007-03-20	2007-03-20	ENSG00000092203	ENSG00000092203			20161	protein-coding gene	gene with protein product		614032	"chromosome 14 open reading frame 92", "KIAA0737"	C14orf92, KIAA0737			Standard	NM_014828		Approved	LCP1	uc001waz.3	O94842	OTTHUMG00000150278	ENST00000405508.1:c.1285_1287delGCT	14.37:g.21961069_21961071delGCT	ENSP00000385102:p.Ala434del					TOX4_ENST00000262709.3_In_Frame_Del_p.A434del|TOX4_ENST00000448790.2_In_Frame_Del_p.A411del	p.A434del			O94842	TOX4_HUMAN	Epithelial(56;6.61e-06)|all cancers(55;5.15e-05)	GBM - Glioblastoma multiforme(265;0.0149)	8	1561_1563	+	all_cancers(95;0.000465)		434			Gln/Pro-rich.|Poly-Ala.		B4DPY8|B4DSM0|E7EV69	In_Frame_Del	DEL	ENST00000405508.1	37	c.1285_1287delGCT	CCDS32043.1																																																																																				0.581	TOX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317287.2	NM_014828		8	321						8	321	---	---	---	---	-	21961062	GCT	-	21961060	7	5	80	1	0	1	0	1	0	0	0	0	16377	971	34	0	1311	0	TOX4	14	21961060	In_Frame_Del	DEL	GCT	TCGA-EJ-7125-01A-11D-1961-08		21961060	85388480	19	4188											
ARNT2	9915	broad.mit.edu	37	chr15	80866543	80866543	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caccagagagatggattgtcAtcgtatgacttatcccaggt	11	11	10	9	1	1	3	1	1	0	2	3	5	2	4	2	2	0	1	2	2	2	3			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr15:80866543A>T	ENST00000303329.4	+	13	1536	c.1371A>T	c.(1369-1371)tcA>tcT	p.S457S	ARNT2_ENST00000527771.1_Silent_p.S446S|ARNT2_ENST00000533983.1_Silent_p.S446S	NM_014862.3	NP_055677.3	Q9HBZ2	ARNT2_HUMAN	aryl-hydrocarbon receptor nuclear translocator 2	457					central nervous system development (GO:0007417)|in utero embryonic development (GO:0001701)|negative regulation of apoptotic process (GO:0043066)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|response to estradiol (GO:0032355)|response to hypoxia (GO:0001666)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	aryl hydrocarbon receptor binding (GO:0017162)|DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|pancreas(2)|prostate(2)|skin(1)	35			BRCA - Breast invasive adenocarcinoma(143;0.134)			ATGGATTGTCATCGTATGACT	0.483																																						ENST00000533983.1																			0				NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|pancreas(2)|prostate(2)|skin(1)	35						c.(1336-1338)tcA>tcT		aryl-hydrocarbon receptor nuclear translocator 2							183	157	166					15																	80866543		2203	4300	6503	SO:0001819	synonymous_variant	9915				central nervous system development|in utero embryonic development|response to hypoxia		aryl hydrocarbon receptor binding|DNA binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr15:80866543A>T	AB002305	CCDS32307.1	15q25.1	2013-05-21			ENSG00000172379	ENSG00000172379		"Basic helix-loop-helix proteins"	16876	protein-coding gene	gene with protein product		606036				11247670	Standard	NM_014862		Approved	KIAA0307, bHLHe1	uc002bfr.3	Q9HBZ2	OTTHUMG00000165478	ENST00000303329.4:c.1371A>T	15.37:g.80866543A>T						ARNT2_ENST00000303329.4_Silent_p.S457S|ARNT2_ENST00000527771.1_Silent_p.S446S	p.S446S			Q9HBZ2	ARNT2_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.134)		14	1677	+			457					B4DIS7|O15024|Q8IYC2	Silent	SNP	ENST00000303329.4	37	c.1338A>T	CCDS32307.1																																																																																				0.483	ARNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384389.2			29	58	0	0	0	0.000409698	0	29	58					T	80866543	A	T	80866543	2	4	80	1	0	0	0	0	0	0	0	1	966	204	8	5		5	ARNT2	15	80866543	Silent	SNP	A	TCGA-EJ-7125-01A-11D-1961-08		80866543	21664849	20	4189											
SMG1	23049	broad.mit.edu	37	chr16	18823153	18823153	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acttggctttcactctcttcCacacactcactgcataggag	9	12	6	14	0	3	0	2	0	1	0	5	1	4	1	1	2	1	2	1	2	1	4			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr16:18823153C>A	ENST00000446231.2	-	62	11250	c.10838G>T	c.(10837-10839)tGg>tTg	p.W3613L	SMG1_ENST00000389467.3_Missense_Mutation_p.W3614L|RP11-1035H13.2_ENST00000569096.1_RNA			Q96Q15	SMG1_HUMAN	SMG1 phosphatidylinositol 3-kinase-related kinase	3613					DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol phosphorylation (GO:0046854)|protein autophosphorylation (GO:0046777)|response to stress (GO:0006950)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						CACTCTCTTCCACACACTCAC	0.418																																						ENST00000446231.2																			0				NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						c.(10837-10839)tGg>tTg		SMG1 phosphatidylinositol 3-kinase-related kinase							354	333	340					16																	18823153		1912	4124	6036	SO:0001583	missense	23049				DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation	cytoplasm|nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr16:18823153C>A	AB061371	CCDS45430.1	16p12.3	2013-07-02	2013-07-02		ENSG00000157106	ENSG00000157106			30045	protein-coding gene	gene with protein product	"phosphatidylinositol 3-kinase-related kinase"	607032	"smg-1 homolog, phosphatidylinositol 3-kinase-related kinase (C. elegans)"			9455477, 11331269, 17229728	Standard	NM_015092		Approved	LIP, KIAA0421, ATX	uc002dfm.3	Q96Q15	OTTHUMG00000166900	ENST00000446231.2:c.10838G>T	16.37:g.18823153C>A	ENSP00000402515:p.Trp3613Leu					RP11-1035H13.2_ENST00000569096.1_RNA|SMG1_ENST00000389467.3_Missense_Mutation_p.W3614L	p.W3613L			Q96Q15	SMG1_HUMAN			62	11250	-			3613					O43305|Q13284|Q8NFX2|Q96QV0|Q96RW3	Missense_Mutation	SNP	ENST00000446231.2	37	c.10838G>T	CCDS45430.1	.	.	.	.	.	.	.	.	.	.	C	26.1	4.701063	0.88924	.	.	ENSG00000157106	ENST00000446231;ENST00000389467	T;T	0.00892	5.57;5.57	5.83	5.83	0.93111	Phosphatidylinositol 3-/4-kinase, catalytic (1);	0.000000	0.64402	D	0.000012	T	0.05227	0.0139	M	0.65975	2.015	0.58432	D	0.999994	D	0.63880	0.993	D	0.72982	0.979	T	0.55611	-0.8114	10	0.28530	T	0.3	.	20.1162	0.97934	0.0:1.0:0.0:0.0	.	3613	Q96Q15	SMG1_HUMAN	L	3613;3614	ENSP00000402515:W3613L;ENSP00000374118:W3614L	ENSP00000374118:W3614L	W	-	2	0	SMG1	18730654	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.786000	0.85741	2.756000	0.94617	0.655000	0.94253	TGG		0.418	SMG1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000391817.1	NM_015092		9	499	1	0	0.000274275	0.000274275	0.00701996	9	499					A	18823153	C	A	18823153	3	1	80	1	0	0	0	0	1	0	0	0	14795	595	21	5	155	5	SMG1	16	18823153	Missense_Mutation	SNP	C	TCGA-EJ-7125-01A-11D-1961-08		18823153	71531600	21	4190											
CDH3	1001	broad.mit.edu	37	chr16	68713813	68713813	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accaaaggacccacacgaccTcatgttcaccattcaccgga	13	6	6	16	2	3	0	3	0	0	0	3	3	3	2	5	2	0	1	5	2	1	2			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr16:68713813T>C	ENST00000264012.4	+	7	1347	c.803T>C	c.(802-804)cTc>cCc	p.L268P	CDH3_ENST00000581171.1_Missense_Mutation_p.L213P|CDH3_ENST00000429102.2_Missense_Mutation_p.L268P	NM_001793.4	NP_001784.2	P22223	CADH3_HUMAN	cadherin 3, type 1, P-cadherin (placental)	268	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|canonical Wnt signaling pathway (GO:0060070)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|hair cycle process (GO:0022405)|homophilic cell adhesion (GO:0007156)|keratinization (GO:0031424)|negative regulation of catagen (GO:0051796)|negative regulation of transforming growth factor beta2 production (GO:0032912)|positive regulation of gene expression (GO:0010628)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of keratinocyte proliferation (GO:0010838)|positive regulation of melanin biosynthetic process (GO:0048023)|positive regulation of melanosome transport (GO:1902910)|positive regulation of monophenol monooxygenase activity (GO:0032773)|regulation of hair cycle by canonical Wnt signaling pathway (GO:0060901)|response to drug (GO:0042493)|retina homeostasis (GO:0001895)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)|wound healing (GO:0042060)	cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.?(2)		NS(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(3)|skin(1)|urinary_tract(1)	25		Ovarian(137;0.0564)		OV - Ovarian serous cystadenocarcinoma(108;0.000782)|Epithelial(162;0.0054)|all cancers(182;0.0384)		CCACACGACCTCATGTTCACC	0.552																																						ENST00000264012.4																			2	Unknown(2)	p.?(2)	breast(2)	NS(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(3)|skin(1)|urinary_tract(1)	25						c.(802-804)cTc>cCc		cadherin 3, type 1, P-cadherin (placental)							204	146	165					16																	68713813		2198	4300	6498	SO:0001583	missense	1001				adherens junction organization|cell junction assembly|homophilic cell adhesion|response to stimulus|visual perception	integral to membrane	calcium ion binding	g.chr16:68713813T>C	X63629	CCDS10868.1	16q22.1	2013-01-08	2001-12-04		ENSG00000062038	ENSG00000062038		"Cadherins / Major cadherins"	1762	protein-coding gene	gene with protein product		114021	"cadherin 3, P-cadherin (placental)"			1427864	Standard	NM_001793		Approved	CDHP, PCAD	uc002ewf.2	P22223	OTTHUMG00000137560	ENST00000264012.4:c.803T>C	16.37:g.68713813T>C	ENSP00000264012:p.Leu268Pro					CDH3_ENST00000581171.1_Missense_Mutation_p.L213P|CDH3_ENST00000429102.2_Missense_Mutation_p.L268P	p.L268P	NM_001793.4	NP_001784.2	P22223	CADH3_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.000782)|Epithelial(162;0.0054)|all cancers(182;0.0384)	7	1347	+		Ovarian(137;0.0564)	268			Cadherin 2.		B2R6F4|Q05DI6	Missense_Mutation	SNP	ENST00000264012.4	37	c.803T>C	CCDS10868.1	.	.	.	.	.	.	.	.	.	.	T	8.393	0.840138	0.16891	.	.	ENSG00000062038	ENST00000429102;ENST00000264012;ENST00000542274	T;T	0.51071	0.72;0.72	5.18	2.75	0.32379	Cadherin (4);Cadherin-like (1);	0.227351	0.22575	N	0.058298	T	0.22859	0.0552	N	0.04245	-0.25	0.58432	D	0.999997	B	0.06786	0.001	B	0.12837	0.008	T	0.04621	-1.0938	10	0.59425	D	0.04	.	6.0144	0.19594	0.1907:0.0:0.1367:0.6726	.	268	P22223	CADH3_HUMAN	P	268;268;213	ENSP00000398485:L268P;ENSP00000264012:L268P	ENSP00000264012:L268P	L	+	2	0	CDH3	67271314	0.989000	0.36119	0.997000	0.53966	0.058000	0.15608	3.747000	0.55134	0.770000	0.33336	0.528000	0.53228	CTC		0.552	CDH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268896.2	NM_001793		4	98	0	0	0	0.00024832	0	4	98					C	68713813	T	C	68713813	3	2	80	1	0	0	0	0	1	0	0	0	3111	1551	54	4	829	4	CDH3	16	68713813	Missense_Mutation	SNP	T	TCGA-EJ-7125-01A-11D-1961-08	49890660	68713813	21640940	22	4191											
SPAG5	10615	broad.mit.edu	37	chr17	26910636	26910636	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tttctccagatcttgctcctGgttatctgctatggtgctgg	4	17	10	10	0	3	1	0	0	3	1	5	1	4	1	2	3	3	4	2	3	2	4			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr17:26910636G>A	ENST00000321765.5	-	15	2910	c.2578C>T	c.(2578-2580)Cag>Tag	p.Q860*		NM_006461.3	NP_006452.3	Q96R06	SPAG5_HUMAN	sperm associated antigen 5	860					chromosome segregation (GO:0007059)|mitotic sister chromatid segregation (GO:0000070)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|spindle organization (GO:0007051)	cytoplasm (GO:0005737)|kinetochore (GO:0000776)|microtubule plus-end (GO:0035371)|mitotic spindle (GO:0072686)				NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	43	Lung NSC(42;0.00431)					TCTTGCTCCTGGTTATCTGCT	0.468																																						ENST00000321765.5																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	43						c.(2578-2580)Cag>Tag		sperm associated antigen 5							156	137	144					17																	26910636		2203	4300	6503	SO:0001587	stop_gained	10615				cell division|mitosis|phosphatidylinositol-mediated signaling|spindle organization	condensed chromosome kinetochore|cytoplasm|spindle pole	protein binding	g.chr17:26910636G>A	AF063308	CCDS32594.1	17q11.2	2008-07-18			ENSG00000076382	ENSG00000076382			13452	protein-coding gene	gene with protein product	"mitotic spindle coiled-coil related protein", "astrin", "mitotic spindle associated protein p126"	615562				11549262	Standard	NM_006461		Approved	DEEPEST, MAP126, hMAP126	uc002hbq.3	Q96R06	OTTHUMG00000166586	ENST00000321765.5:c.2578C>T	17.37:g.26910636G>A	ENSP00000323300:p.Gln860*						p.Q860*	NM_006461.3	NP_006452.3	Q96R06	SPAG5_HUMAN			15	2910	-	Lung NSC(42;0.00431)		860					O95213|Q9BWE8|Q9NT17|Q9UFE6	Nonsense_Mutation	SNP	ENST00000321765.5	37	c.2578C>T	CCDS32594.1	.	.	.	.	.	.	.	.	.	.	G	44	10.625889	0.99440	.	.	ENSG00000076382;ENSG00000258472	ENST00000321765;ENST00000531839	.	.	.	5.89	3.76	0.43208	.	0.360056	0.24147	N	0.041109	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-3.4051	12.2043	0.54342	0.0:0.3451:0.6549:0.0	.	.	.	.	X	860;265	.	ENSP00000431165:Q265X	Q	-	1	0	SPAG5;RP11-192H23.4	23934763	0.977000	0.34250	0.751000	0.31187	0.958000	0.62258	1.958000	0.40402	1.473000	0.48159	0.650000	0.86243	CAG		0.468	SPAG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390564.2	NM_006461		4	107	0	0	0	1.23904e-05	0	4	107					A	26910636	G	A	26910636	4	1	80	1	0	0	0	0	0	1	0	0	14981	1357	47	3	1043	3	SPAG5	17	26910636	Nonsense_Mutation	SNP	G	TCGA-EJ-7125-01A-11D-1961-08		26910636	54284574	23	4192											
SDK2	54549	broad.mit.edu	37	chr17	71334988	71334988	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccttctgctgtcgccgccacGagttgtagtatgtggggtca	5	12	13	11	3	2	0	1	0	1	0	3	1	2	0	3	2	1	4	3	2	2	4	rs201330590		TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr17:71334988G>A	ENST00000392650.3	-	45	6257	c.6257C>T	c.(6256-6258)tCg>tTg	p.S2086L	SDK2_ENST00000410094.1_5'UTR|SDK2_ENST00000388726.3_Missense_Mutation_p.S2067L	NM_001144952.1	NP_001138424.1	Q58EX2	SDK2_HUMAN	sidekick cell adhesion molecule 2	2086					cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						TCGCCGCCACGAGTTGTAGTA	0.592													G|||	1	0.000199681	0	0.0014	5008	,	,		17803	0		0	False		,,,				2504	0					ENST00000392650.3																			0				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						c.(6256-6258)tCg>tTg		sidekick cell adhesion molecule 2							171	145	154					17																	71334988		2203	4300	6503	SO:0001583	missense	54549				cell adhesion	integral to membrane		g.chr17:71334988G>A	AB040947	CCDS45769.1	17q21.31	2013-02-11	2011-12-09		ENSG00000069188	ENSG00000069188		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	19308	protein-coding gene	gene with protein product		607217	"sidekick homolog 2 (chicken)"			12230981, 15213259	Standard	NM_001144952		Approved	FLJ10832, KIAA1514	uc010dfm.3	Q58EX2	OTTHUMG00000152726	ENST00000392650.3:c.6257C>T	17.37:g.71334988G>A	ENSP00000376421:p.Ser2086Leu					SDK2_ENST00000388726.3_Missense_Mutation_p.S2067L|SDK2_ENST00000410094.1_5'UTR	p.S2086L	NM_001144952.1	NP_001138424.1	Q58EX2	SDK2_HUMAN			45	6257	-			2086					A6NMR8|C9JA57|Q86VY3|Q9NTD2|Q9NVB3|Q9P214	Missense_Mutation	SNP	ENST00000392650.3	37	c.6257C>T	CCDS45769.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	29.8	5.039889	0.93630	.	.	ENSG00000069188	ENST00000409227;ENST00000392650;ENST00000388726;ENST00000424778;ENST00000316893;ENST00000410094	T;T;T	0.74842	-0.83;-0.88;0.23	4.72	4.72	0.59763	.	0.000000	0.85682	D	0.000000	D	0.85164	0.5634	M	0.71206	2.165	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.70935	0.936;0.971	D	0.87423	0.2383	10	0.87932	D	0	.	17.3228	0.87240	0.0:0.0:1.0:0.0	.	2086;2067	Q58EX2;Q58EX2-3	SDK2_HUMAN;.	L	1710;2086;2067;1243;2086;427	ENSP00000376421:S2086L;ENSP00000373378:S2067L;ENSP00000407098:S1243L	ENSP00000324967:S2086L	S	-	2	0	SDK2	68846583	1.000000	0.71417	0.996000	0.52242	0.952000	0.60782	9.610000	0.98337	2.172000	0.68678	0.655000	0.94253	TCG		0.592	SDK2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327598.2	NM_019064		14	40	0	0	0	0.000422831	0	14	40					A	71334988	G	A	71334988	3	1	80	1	0	0	0	0	1	0	0	0	13969	1059	37	2	265	2	SDK2	17	71334988	Missense_Mutation	SNP	G	TCGA-EJ-7125-01A-11D-1961-08	44424352	71334988	9860222	24	4193											
MIB1	57534	broad.mit.edu	37	chr18	19395662	19395663	+	Frame_Shift_Ins	INS	-	-	T																															ctacatcgaggtagtgctgaINStttgaatgctcgaaacaagc																										TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr18:19395662_19395663insT	ENST00000261537.6	+	11	1829_1830	c.1565_1566insT	c.(1564-1569)gatttgfs	p.L523fs	MIB1_ENST00000578646.1_3'UTR|SNORA73_ENST00000363107.1_RNA	NM_020774.2	NP_065825.1	Q86YT6	MIB1_HUMAN	mindbomb E3 ubiquitin protein ligase 1	523					blood vessel development (GO:0001568)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|negative regulation of neuron differentiation (GO:0045665)|neural tube formation (GO:0001841)|Notch signaling pathway (GO:0007219)|positive regulation of endocytosis (GO:0045807)|somitogenesis (GO:0001756)	centrosome (GO:0005813)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|ovary(5)	27			STAD - Stomach adenocarcinoma(5;0.212)			GGTAGTGCTGATTTGAATGCTC	0.411																																						ENST00000261537.6																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|ovary(5)	27						c.(1564-1566)gttfs		mindbomb E3 ubiquitin protein ligase 1																																				SO:0001589	frameshift_variant	57534				Notch signaling pathway	centrosome|nuclear membrane|plasma membrane	ubiquitin-protein ligase activity|zinc ion binding	g.chr18:19395662_19395663insT	AB037744	CCDS11871.1	18q11.2	2014-09-17	2012-02-23		ENSG00000101752	ENSG00000101752		"Zinc fingers, ZZ-type", "Ankyrin repeat domain containing"	21086	protein-coding gene	gene with protein product		608677	"mindbomb homolog 1 (Drosophila)"				Standard	NM_020774		Approved	DIP-1, MIB, KIAA1323, ZZANK2, ZZZ6	uc002ktq.3	Q86YT6	OTTHUMG00000131753	ENST00000261537.6:c.1568dupT	18.37:g.19395665_19395665dupT	ENSP00000261537:p.Leu523fs					MIB1_ENST00000578646.1_3'UTR	p.V522fs	NM_020774.2	NP_065825.1	Q86YT6	MIB1_HUMAN	STAD - Stomach adenocarcinoma(5;0.212)		11	1829_1830	+			522					B0YJ38|Q2TB37|Q68D01|Q6YI51|Q8NBY0|Q8TCB5|Q8TCL7|Q9P2M3	Frame_Shift_Ins	INS	ENST00000261537.6	37	c.1565_1566insT	CCDS11871.1																																																																																				0.411	MIB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254675.1	NM_020774		21	61						21	61	---	---	---	---	T	19395663	-	T	19395662	7	5	80	1	0	1	1	0	0	0	0	0	9566	333	12	0	1607	0	MIB1	18	19395662	Frame_Shift_Ins	INS	-	TCGA-EJ-7125-01A-11D-1961-08		19395662	58681586	25	4194											
ARHGEF18	23370	broad.mit.edu	37	chr19	7535101	7535101	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggggcacagccctcctgcccGggcccccagctccctcgcca	4	4	11	22	2	0	0	0	0	0	0	3	0	2	0	7	3	3	2	7	3	0	0			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr19:7535101G>A	ENST00000359920.6	+	19	3692	c.3439G>A	c.(3439-3441)Ggg>Agg	p.G1147R	CTD-2207O23.3_ENST00000593531.1_Silent_p.P1104P|ARHGEF18_ENST00000319670.9_Missense_Mutation_p.G989R	NM_001130955.1	NP_001124427.1	Q6ZSZ5	ARHGI_HUMAN	Rho/Rac guanine nucleotide exchange factor (GEF) 18	1147	Pro-rich.				actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|transforming growth factor beta receptor signaling pathway (GO:0007179)	apical part of cell (GO:0045177)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(4)|ovary(2)|prostate(2)|stomach(1)|urinary_tract(1)	23		Renal(5;0.0902)				CCTCCTGCCCGGGCCCCCAGC	0.672																																						ENST00000359920.6																			0				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(4)|ovary(2)|prostate(2)|stomach(1)|urinary_tract(1)	23						c.(3439-3441)Ggg>Agg		Rho/Rac guanine nucleotide exchange factor (GEF) 18							26	34	31					19																	7535101		2199	4292	6491	SO:0001583	missense	23370				actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of cell shape|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity	g.chr19:7535101G>A	AK074372	CCDS12177.1, CCDS45946.1	19p13.3	2013-01-10	2009-06-12			ENSG00000104880		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	17090	protein-coding gene	gene with protein product	"Rho-specific guanine nucleotide exchange factor p114"		"rho/rac guanine nucleotide exchange factor (GEF) 18"			9628581, 11318610	Standard	NM_015318		Approved	P114-RhoGEF, KIAA0521, MGC15913	uc002mgi.3	Q6ZSZ5		ENST00000359920.6:c.3439G>A	19.37:g.7535101G>A	ENSP00000352995:p.Gly1147Arg					CTD-2207O23.3_ENST00000593531.1_Missense_Mutation_p.1104_1104insP|ARHGEF18_ENST00000319670.9_Missense_Mutation_p.G989R	p.G1147R	NM_001130955.1	NP_001124427.1	Q6ZSZ5	ARHGI_HUMAN			19	3692	+		Renal(5;0.0902)	1147			Pro-rich.		A8MV62|B5ME81|O60274|Q6DD92	Missense_Mutation	SNP	ENST00000359920.6	37	c.3439G>A	CCDS45946.1	.	.	.	.	.	.	.	.	.	.	G	6.285	0.420702	0.11928	.	.	ENSG00000104880	ENST00000319670;ENST00000359920	T;T	0.29397	1.59;1.57	4.15	-2.66	0.06077	.	2.808600	0.01606	N	0.022266	T	0.13927	0.0337	N	0.22421	0.69	0.09310	N	1	P;B	0.35363	0.497;0.364	B;B	0.26969	0.075;0.034	T	0.06570	-1.0819	10	0.11794	T	0.64	-0.3727	1.3214	0.02117	0.2145:0.3575:0.2697:0.1584	.	989;1147	Q6ZSZ5-2;Q6ZSZ5	.;ARHGI_HUMAN	R	989;1147	ENSP00000319200:G989R;ENSP00000352995:G1147R	ENSP00000319200:G989R	G	+	1	0	ARHGEF18	7441101	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-0.349000	0.07731	-0.442000	0.07190	0.655000	0.94253	GGG		0.672	ARHGEF18-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000436340.1	NM_015318		42	47	0	0	0	0.000589545	0	42	47					A	7535101	G	A	7535101	3	1	80	1	0	0	0	0	1	0	0	0	901	1116	39	2	3513	2	ARHGEF18	19	7535101	Missense_Mutation	SNP	G	TCGA-EJ-7125-01A-11D-1961-08		7535101	51593882	26	4195											
CEACAM20	125931	broad.mit.edu	37	chr19	45029262	45029262	+	RNA	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctgcagctggaggactccatAcggtacaaagcgaggctaca	12	6	12	11	2	0	0	0	0	0	0	1	3	1	2	1	4	6	4	1	4	4	3			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr19:45029262A>G	ENST00000454753.1	-	0	346							Q6UY09	CEA20_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 20							integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)	15		Prostate(69;0.0352)				AGGACTCCATACGGTACAAAG	0.587																																						ENST00000454753.1																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)	15								carcinoembryonic antigen-related cell adhesion molecule 20							100	106	104					19																	45029262		2097	4215	6312			125931					integral to membrane		g.chr19:45029262A>G	AY358129	CCDS74390.1, CCDS74391.1, CCDS74392.1, CCDS74393.1	19q13.31	2013-01-30			ENSG00000176395	ENSG00000273777		"Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Immunoglobulin superfamily / I-set domain containing"	24879	protein-coding gene	gene with protein product						12975309	Standard	NM_001102600		Approved	UNQ9366	uc010ejo.1	Q6UY09	OTTHUMG00000151532		19.37:g.45029262A>G										Q6UY09	CEA20_HUMAN			0	346	-		Prostate(69;0.0352)							RNA	SNP	ENST00000454753.1	37																																																																																						0.587	CEACAM20-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000323032.1	NM_198444		35	85	0	0	0	0.000270559	0	35	85					G	45029262	A	G	45029262	1	3	80	0	1	0	0	0	0	0	0	0	3191	391	14	4		4	CEACAM20	19	45029262	RNA	SNP	A	TCGA-EJ-7125-01A-11D-1961-08	37494161	45029262	14099721	27	4196											
FOXS1	2307	broad.mit.edu	37	chr20	30432472	30432472	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gggttccttgtggtcagttgGcaggggcagtggggcccgga	4	9	20	8	1	1	0	1	0	0	0	2	1	2	1	2	8	0	4	2	8	0	3	rs2296917		TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr20:30432472G>A	ENST00000375978.3	-	1	948	c.874C>T	c.(874-876)Cca>Tca	p.P292S		NM_004118.3	NP_004109.1	O43638	FOXS1_HUMAN	forkhead box S1	292			P -> A (in dbSNP:rs2296917).		blood vessel development (GO:0001568)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|neuromuscular process controlling balance (GO:0050885)|positive regulation of multicellular organism growth (GO:0040018)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			kidney(1)|large_intestine(3)|lung(3)|ovary(1)|urinary_tract(1)	9						TGGTCAGTTGGCAGGGGCAGT	0.687																																						ENST00000375978.3																			0				kidney(1)|large_intestine(3)|lung(3)|ovary(1)|urinary_tract(1)	9						c.(874-876)Cca>Tca		forkhead box S1							26	28	27					20																	30432472		2203	4299	6502	SO:0001583	missense	2307				anti-apoptosis|artery morphogenesis|blood vessel remodeling|camera-type eye development|cardiac muscle cell proliferation|collagen fibril organization|embryonic heart tube development|insulin receptor signaling pathway|lymphangiogenesis|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|neural crest cell fate commitment|neuromuscular process controlling balance|Notch signaling pathway|ossification|paraxial mesodermal cell fate commitment|patterning of blood vessels|positive regulation of multicellular organism growth|positive regulation of transcription from RNA polymerase II promoter|regulation of blood vessel size|regulation of organ growth|somitogenesis|vascular endothelial growth factor receptor signaling pathway|vasculogenesis|ventricular cardiac muscle tissue morphogenesis	transcription factor complex	chromatin DNA binding|DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chr20:30432472G>A	AF042831	CCDS13192.1	20q11.1-q11.2	2008-04-10	2008-04-10	2008-04-10	ENSG00000179772	ENSG00000179772		"Forkhead boxes"	3735	protein-coding gene	gene with protein product		602939	"forkhead (Drosophila)-like 18", "forkhead-like 18 (Drosophila)"	FKHL18		9325056, 17062144	Standard	NM_004118		Approved	FREAC10	uc002wwt.1	O43638	OTTHUMG00000032183	ENST00000375978.3:c.874C>T	20.37:g.30432472G>A	ENSP00000365145:p.Pro292Ser						p.P292S	NM_004118.3	NP_004109.1	O43638	FOXS1_HUMAN			1	948	-			292		P -> A (in dbSNP:rs2296917).			Q96D28	Missense_Mutation	SNP	ENST00000375978.3	37	c.874C>T	CCDS13192.1	.	.	.	.	.	.	.	.	.	.	G	12.24	1.877852	0.33162	.	.	ENSG00000179772	ENST00000375978	D	0.92199	-2.99	4.52	4.52	0.55395	.	0.196433	0.25500	N	0.030256	D	0.82967	0.5152	L	0.27053	0.805	0.31334	N	0.684426	P	0.39480	0.675	B	0.33960	0.173	T	0.82849	-0.0254	10	0.44086	T	0.13	.	6.3456	0.21347	0.0985:0.1879:0.7136:0.0	.	292	O43638	FOXS1_HUMAN	S	292	ENSP00000365145:P292S	ENSP00000365145:P292S	P	-	1	0	FOXS1	29896133	0.994000	0.37717	1.000000	0.80357	0.869000	0.49853	0.952000	0.29149	2.341000	0.79615	0.448000	0.29417	CCA		0.687	FOXS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078560.2	NM_004118		5	40	0	0	0	1.23904e-05	0	5	40					A	30432472	G	A	30432472	3	1	80	1	0	0	0	0	1	0	0	0	6035	1203	42	3	122	3	FOXS1	20	30432472	Missense_Mutation	SNP	G	TCGA-EJ-7125-01A-11D-1961-08		30432472	32593048	28	4197											
CLTCL1	8218	broad.mit.edu	37	chr22	19198013	19198013	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtcaggatcaacagattctgTagattcctgaggagagaggg	12	9	14	6	0	3	4	2	1	1	3	4	7	4	6	1	3	1	1	1	3	2	3	rs372241985		TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr22:19198013T>C	ENST00000263200.10	-	20	3144	c.3072A>G	c.(3070-3072)ctA>ctG	p.L1024L	CLTCL1_ENST00000442042.2_5'Flank|CLTCL1_ENST00000353891.5_Silent_p.L1024L|CLTCL1_ENST00000427926.1_Silent_p.L1024L	NM_007098.3	NP_009029.3	P53675	CLH2_HUMAN	clathrin, heavy chain-like 1	1024	Heavy chain arm.|Proximal segment.				anatomical structure morphogenesis (GO:0009653)|intracellular protein transport (GO:0006886)|mitotic nuclear division (GO:0007067)|positive regulation of glucose import (GO:0046326)|receptor-mediated endocytosis (GO:0006898)|signal transduction (GO:0007165)	clathrin coat of coated pit (GO:0030132)|clathrin coat of trans-Golgi network vesicle (GO:0030130)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|coated vesicle (GO:0030135)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|spindle (GO:0005819)|trans-Golgi network (GO:0005802)	signal transducer activity (GO:0004871)|structural molecule activity (GO:0005198)			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	Colorectal(54;0.0993)					ACAGATTCTGTAGATTCCTGA	0.552			T	?	ALCL																																	ENST00000263200.10				Dom	yes		22	22q11.21	8218	T	"clathrin, heavy polypeptide-like 1"			L	?		ALCL		0				breast(2)|central_nervous_system(3)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						c.(3070-3072)ctA>ctG		clathrin, heavy chain-like 1							51	51	51					22																	19198013		2057	4195	6252	SO:0001819	synonymous_variant	8218				anatomical structure morphogenesis|intracellular protein transport|mitosis|positive regulation of glucose import|receptor-mediated endocytosis	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|spindle|trans-Golgi network	protein binding|signal transducer activity|structural molecule activity	g.chr22:19198013T>C		CCDS46662.1, CCDS54497.1, CCDS46662.2, CCDS54497.2	22q11.2	2008-06-10	2006-09-29		ENSG00000070371	ENSG00000070371			2093	protein-coding gene	gene with protein product		601273	"clathrin, heavy polypeptide-like 1"	CLTCL		8844170, 15133132	Standard	NM_007098		Approved	CLTD, CLH22, CHC22	uc021wle.1	P53675	OTTHUMG00000150109	ENST00000263200.10:c.3072A>G	22.37:g.19198013T>C						CLTCL1_ENST00000353891.5_Silent_p.L1024L|CLTCL1_ENST00000427926.1_Silent_p.L1024L	p.L1024L	NM_007098.3	NP_009029.3	P53675	CLH2_HUMAN			20	3144	-	Colorectal(54;0.0993)		1024			Heavy chain arm.|Proximal segment.		B7Z7U5|Q14017|Q15808|Q15809	Silent	SNP	ENST00000263200.10	37	c.3072A>G	CCDS46662.1																																																																																				0.552	CLTCL1-001	KNOWN	non_canonical_genome_sequence_error|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316397.5	NM_007098		3	47	0	0	0	1.23904e-05	0	3	47					C	19198013	T	C	19198013	2	2	80	1	0	0	0	0	0	0	0	1	3567	1625	57	4		4	CLTCL1	22	19198013	Silent	SNP	T	TCGA-EJ-7125-01A-11D-1961-08		19198013	32106553	29	4198											
C22orf36	2678	broad.mit.edu	37	chr22	24982284	24982284	+	Intron	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caccatggctgctcaggtagCgtgtgatgtgttgcacgtcc	6	11	13	11	2	1	1	1	1	0	0	2	1	2	1	2	2	3	5	2	2	1	2	rs376304947		TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr22:24982284C>T	ENST00000248923.4	+	1	59				FAM211B_ENST00000318753.8_Missense_Mutation_p.R173H|FAM211B_ENST00000495297.1_5'Flank	NM_013430.2	NP_038347.2	P19440	GGT1_HUMAN	gamma-glutamyltransferase 1						arachidonic acid metabolic process (GO:0019369)|cellular amino acid metabolic process (GO:0006520)|cysteine biosynthetic process (GO:0019344)|glutamate metabolic process (GO:0006536)|glutathione biosynthetic process (GO:0006750)|glutathione catabolic process (GO:0006751)|glutathione derivative biosynthetic process (GO:1901687)|glutathione metabolic process (GO:0006749)|leukotriene biosynthetic process (GO:0019370)|leukotriene metabolic process (GO:0006691)|regulation of immune system process (GO:0002682)|regulation of inflammatory response (GO:0050727)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)|xenobiotic metabolic process (GO:0006805)|zymogen activation (GO:0031638)	anchored component of external side of plasma membrane (GO:0031362)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	gamma-glutamyltransferase activity (GO:0003840)|glutathione hydrolase activity (GO:0036374)			breast(1)|endometrium(2)|kidney(14)|large_intestine(2)|lung(6)|pancreas(1)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	40					Glutathione(DB00143)	GCTCAGGTAGCGTGTGATGTG	0.627																																						ENST00000318753.8																			0											c.(517-519)cGc>cAc		family with sequence similarity 211, member B		C	,HIS/ARG	2,4374	4.2+/-10.8	0,2,2186	136	150	145		,518	-1.3	0.2	22		145	0,8570		0,0,4285	no	intron,missense	GGT1,C22orf36	NM_013430.2,NM_207644.2	,29	0,2,6471	TT,TC,CC		0.0,0.0457,0.0154	,benign	,173/316	24982284	2,12944	2188	4285	6473	SO:0001627	intron_variant	388886							g.chr22:24982284C>T	M24903	CCDS42992.1	22q11.23	2008-08-15			ENSG00000100031	ENSG00000100031	2.3.2.2	"CD molecules", "Gamma-glutamyltransferases"	4250	protein-coding gene	gene with protein product		612346		GGT		8104871, 18357469	Standard	NM_001288833		Approved	D22S672, D22S732, CD224	uc003aan.1	P19440	OTTHUMG00000030859	ENST00000248923.4:c.-429+2508C>T	22.37:g.24982284C>T						GGT1_ENST00000248923.4_Intron	p.R173H	NM_207644.2	NP_997527.2	Q2VPJ9	LRC6X_HUMAN			4	541	-			173					Q08247|Q14404|Q8TBS1|Q9UMK1	Missense_Mutation	SNP	ENST00000248923.4	37	c.518G>A	CCDS42992.1	.	.	.	.	.	.	.	.	.	.	C	4.254	0.046256	0.08243	4.57E-4	0.0	ENSG00000178026	ENST00000318753	T	0.29917	1.55	3.35	-1.31	0.09230	.	0.598985	0.16523	N	0.210739	T	0.10294	0.0252	N	0.04880	-0.145	0.22866	N	0.99864	B	0.02656	0.0	B	0.04013	0.001	T	0.28038	-1.0056	10	0.15499	T	0.54	-14.6243	3.9091	0.09196	0.1677:0.4057:0.0:0.4266	.	173	Q2VPJ9	LRC6X_HUMAN	H	173	ENSP00000320520:R173H	ENSP00000320520:R173H	R	-	2	0	C22orf36	23312284	0.058000	0.20735	0.250000	0.24296	0.001000	0.01503	-0.160000	0.10041	-0.066000	0.12998	-1.327000	0.01280	CGC		0.627	GGT1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319110.1	NM_013430		81	130	0	0	0	0.000147903	0	81	130					T	24982284	C	T	24982284	1	4	80	0	1	0	0	0	0	0	0	0	2146	768	27	1		1	C22orf36	22	24982284	Intron	SNP	C	TCGA-EJ-7125-01A-11D-1961-08	5784271	24982284	26322282	30	4199											
TMEM211	255349	broad.mit.edu	37	chr22	25331314	25331314	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agatttttatttgttcatttCtggcacaaagatgattctct	10	19	6	6	0	3	3	1	1	2	2	4	3	3	3	0	1	0	2	0	1	2	7			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr22:25331314C>A	ENST00000423535.1	-	3	588	c.589G>T	c.(589-591)Gaa>Taa	p.E197*	TMEM211_ENST00000382744.1_Nonsense_Mutation_p.E126*|TMEM211_ENST00000407886.1_Nonsense_Mutation_p.E126*			Q6ICI0	TM211_HUMAN	transmembrane protein 211	197						integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)	8						TTGTTCATTTCTGGCACAAAG	0.493																																						ENST00000407886.1																			0				endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)	8						c.(376-378)Gaa>Taa		transmembrane protein 211							86	86	86					22																	25331314		2203	4300	6503	SO:0001587	stop_gained	255349					integral to membrane		g.chr22:25331314C>A		CCDS33624.1	22q11.23	2009-01-12			ENSG00000206069	ENSG00000206069			33725	protein-coding gene	gene with protein product							Standard	NM_001001663		Approved	bA9F11.1	uc003abk.1	Q6ICI0	OTTHUMG00000150790	ENST00000423535.1:c.589G>T	22.37:g.25331314C>A	ENSP00000387813:p.Glu197*					TMEM211_ENST00000423535.1_Nonsense_Mutation_p.E197*|TMEM211_ENST00000382744.1_Nonsense_Mutation_p.E126*	p.E126*			Q6ICI0	TM211_HUMAN			4	628	-			197						Nonsense_Mutation	SNP	ENST00000423535.1	37	c.376G>T		.	.	.	.	.	.	.	.	.	.	C	11.58	1.682301	0.29872	.	.	ENSG00000206069	ENST00000407886;ENST00000423535;ENST00000382744	.	.	.	4.26	4.26	0.50523	.	0.198839	0.34110	N	0.004252	.	.	.	.	.	.	0.33356	D	0.571658	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-34.5777	8.2082	0.31467	0.0:0.892:0.0:0.108	.	.	.	.	X	126;197;126	.	ENSP00000372192:E126X	E	-	1	0	TMEM211	23661314	0.999000	0.42202	0.961000	0.40146	0.221000	0.24807	2.311000	0.43717	2.369000	0.80426	0.455000	0.32223	GAA		0.493	TMEM211-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001001663		42	80	1	0	3.54909e-21	0.000589545	9.60282e-20	42	80					A	25331314	C	A	25331314	4	1	80	1	0	0	0	0	0	1	0	0	16132	922	32	5	17	5	TMEM211	22	25331314	Nonsense_Mutation	SNP	C	TCGA-EJ-7125-01A-11D-1961-08	349030	25331314	25973252	31	4200											
UTP11L	51118	broad.mit.edu	37	chr1	38478519	38478519	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gctaagtcccggcagcgggaAcacagagagcgaagccaggt	12	3	15	11	3	0	1	0	0	0	1	1	4	1	2	2	3	4	2	2	3	3	1			TCGA-EJ-7218-01B-11D-A32B-08	TCGA-EJ-7218-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45c03982-3401-4737-b89c-b3a16aa6a7f4	1d53564b-d57c-4616-8950-9277fe4e08e5	g.chr1:38478519A>C	ENST00000373014.4	+	1	106	c.45A>C	c.(43-45)gaA>gaC	p.E15D	UTP11L_ENST00000537711.1_Missense_Mutation_p.E15D	NM_016037.3	NP_057121.2	Q9Y3A2	UTP11_HUMAN	UTP11-like, U3 small nucleolar ribonucleoprotein (yeast)	15					nervous system development (GO:0007399)|positive regulation of apoptotic process (GO:0043065)|ribosomal small subunit biogenesis (GO:0042274)|rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleolus (GO:0005730)|small-subunit processome (GO:0032040)	poly(A) RNA binding (GO:0044822)			NS(1)|cervix(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	5	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				GGCAGCGGGAACACAGAGAGC	0.612																																						ENST00000373014.4																			0				NS(1)|cervix(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	5						c.(43-45)gaA>gaC		UTP11-like, U3 small nucleolar ribonucleoprotein, (yeast)							78	88	85					1																	38478519		2203	4300	6503	SO:0001583	missense	51118				induction of apoptosis|nerve growth factor receptor signaling pathway|nervous system development|rRNA processing	cytoplasm|extracellular space|nucleolus|small-subunit processome	protein binding	g.chr1:38478519A>C	AF151852	CCDS429.1	1p34.3	2014-03-06	2014-03-06		ENSG00000183520	ENSG00000183520			24329	protein-coding gene	gene with protein product		609440				11860508, 10810093	Standard	NM_016037		Approved	CGI-94	uc001ccn.4	Q9Y3A2	OTTHUMG00000004435	ENST00000373014.4:c.45A>C	1.37:g.38478519A>C	ENSP00000362105:p.Glu15Asp					UTP11L_ENST00000537711.1_Missense_Mutation_p.E15D	p.E15D	NM_016037.3	NP_057121.2	Q9Y3A2	UTP11_HUMAN			1	106	+	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)	15					A8K785|B4DJC6|D3DPT7|Q5VT93|Q9BS98|Q9NS31	Missense_Mutation	SNP	ENST00000373014.4	37	c.45A>C	CCDS429.1	.	.	.	.	.	.	.	.	.	.	A	11.02	1.517156	0.27123	.	.	ENSG00000183520	ENST00000373014;ENST00000537711	.	.	.	4.74	3.59	0.41128	.	0.173879	0.52532	D	0.000061	T	0.30135	0.0755	N	0.19112	0.55	0.36776	D	0.884064	B	0.06786	0.001	B	0.12156	0.007	T	0.18935	-1.0321	9	0.13470	T	0.59	-1.4177	5.7541	0.18162	0.8161:0.0:0.1839:0.0	.	15	Q9Y3A2	UTP11_HUMAN	D	15	.	ENSP00000362105:E15D	E	+	3	2	UTP11L	38251106	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	1.269000	0.33074	1.987000	0.57996	0.459000	0.35465	GAA		0.612	UTP11L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012962.1	NM_016037		23	82	0	0	0	1	0	23	82					C	38478519	A	C	38478519	3	2	81	1	0	0	0	0	1	0	0	0	17091	40	2	5	47	5	UTP11L	1	38478519	Missense_Mutation	SNP	A	TCGA-EJ-7218-01B-11D-A32B-08		38478519	210772102	1	4201											
DHCR24	1718	broad.mit.edu	37	chr1	55349366	55349366	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgtgtcttcttgtacttcccGacacgtagtgagacagtgag	8	13	11	9	2	2	2	0	2	2	1	3	4	3	2	1	0	1	2	1	0	2	5			TCGA-EJ-7218-01B-11D-A32B-08	TCGA-EJ-7218-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45c03982-3401-4737-b89c-b3a16aa6a7f4	1d53564b-d57c-4616-8950-9277fe4e08e5	g.chr1:55349366G>A	ENST00000371269.3	-	2	410	c.312C>T	c.(310-312)gtC>gtT	p.V104V	DHCR24_ENST00000535035.1_Silent_p.V63V	NM_014762.3	NP_055577.1	Q15392	DHC24_HUMAN	24-dehydrocholesterol reductase	104	FAD-binding PCMH-type. {ECO:0000255|PROSITE-ProRule:PRU00718}.				amyloid precursor protein catabolic process (GO:0042987)|apoptotic process (GO:0006915)|cell cycle arrest (GO:0007050)|cholesterol biosynthetic process (GO:0006695)|male genitalia development (GO:0030539)|membrane organization (GO:0061024)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|oxidation-reduction process (GO:0055114)|plasminogen activation (GO:0031639)|protein localization (GO:0008104)|Ras protein signal transduction (GO:0007265)|regulation of neuron death (GO:1901214)|response to hormone (GO:0009725)|response to oxidative stress (GO:0006979)|skin development (GO:0043588)|small molecule metabolic process (GO:0044281)|tissue development (GO:0009888)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	delta24(24-1) sterol reductase activity (GO:0000246)|delta24-sterol reductase activity (GO:0050614)|enzyme binding (GO:0019899)|flavin adenine dinucleotide binding (GO:0050660)|oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor (GO:0016628)|peptide antigen binding (GO:0042605)|UDP-N-acetylmuramate dehydrogenase activity (GO:0008762)			large_intestine(2)|liver(1)|lung(1)|pancreas(1)|prostate(1)|skin(1)	7						TGTACTTCCCGACACGTAGTG	0.537																																					Pancreas(39;516 1021 24601 30715 32780)	ENST00000371269.3																			0				large_intestine(2)|liver(1)|lung(1)|pancreas(1)|prostate(1)|skin(1)	7						c.(310-312)gtC>gtT		24-dehydrocholesterol reductase							236	205	215					1																	55349366		2203	4300	6503	SO:0001819	synonymous_variant	1718				anti-apoptosis|apoptosis|cell cycle arrest|cholesterol biosynthetic process|negative regulation of caspase activity|neuroprotection|response to oxidative stress|skin development	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|nucleus	delta24-sterol reductase activity|enzyme binding|flavin adenine dinucleotide binding|peptide antigen binding	g.chr1:55349366G>A	AF261758	CCDS600.1	1p32.3	2008-02-05			ENSG00000116133	ENSG00000116133			2859	protein-coding gene	gene with protein product		606418				11519011	Standard	NM_014762		Approved	KIAA0018, seladin-1	uc001cyc.1	Q15392	OTTHUMG00000009989	ENST00000371269.3:c.312C>T	1.37:g.55349366G>A						DHCR24_ENST00000535035.1_Silent_p.V63V	p.V104V	NM_014762.3	NP_055577.1	Q15392	DHC24_HUMAN			2	410	-			104			FAD-binding PCMH-type.		B7Z817|D3DQ51|Q9HBA8	Silent	SNP	ENST00000371269.3	37	c.312C>T	CCDS600.1																																																																																				0.537	DHCR24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027680.1	NM_014762		4	147	0	0	0	1	0	4	147					A	55349366	G	A	55349366	2	1	81	1	0	0	0	0	0	0	0	1	4476	1045	37	2		2	DHCR24	1	55349366	Silent	SNP	G	TCGA-EJ-7218-01B-11D-A32B-08	16870847	55349366	193901255	2	4202											
BCAS2	10286	broad.mit.edu	37	chr1	115123932	115123932	+	Nonsense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atacttacttcaaaggcagaAtaatccggggctgtcaggta	13	10	10	8	1	2	1	2	0	0	1	3	1	3	1	1	4	2	3	1	4	6	5			TCGA-EJ-7218-01B-11D-A32B-08	TCGA-EJ-7218-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45c03982-3401-4737-b89c-b3a16aa6a7f4	1d53564b-d57c-4616-8950-9277fe4e08e5	g.chr1:115123932A>C	ENST00000369541.3	-	2	221	c.174T>G	c.(172-174)taT>taG	p.Y58*	BCAS2_ENST00000485021.1_5'UTR	NM_005872.2	NP_005863.1	O75934	SPF27_HUMAN	breast carcinoma amplified sequence 2	58					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	cell junction (GO:0030054)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)				biliary_tract(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(4)	13	all_epithelial(7;9.54e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		CAAAGGCAGAATAATCCGGGG	0.448																																						ENST00000369541.3																			0				biliary_tract(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(4)	13						c.(172-174)taT>taG		breast carcinoma amplified sequence 2							205	207	207					1																	115123932		2203	4300	6503	SO:0001587	stop_gained	10286				mRNA processing|RNA splicing, via transesterification reactions	nucleolus|spliceosomal complex	protein binding	g.chr1:115123932A>C	AB020623	CCDS874.1	1p13.2	2010-01-25			ENSG00000116752	ENSG00000116752			975	protein-coding gene	gene with protein product		605783				9731529, 10403562	Standard	NM_005872		Approved	DAM1, SPF27, Snt309	uc001efa.3	O75934	OTTHUMG00000011898	ENST00000369541.3:c.174T>G	1.37:g.115123932A>C	ENSP00000358554:p.Tyr58*					BCAS2_ENST00000485021.1_5'UTR	p.Y58*	NM_005872.2	NP_005863.1	O75934	SPF27_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	2	221	-	all_epithelial(7;9.54e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)	58					Q6FGS0	Nonsense_Mutation	SNP	ENST00000369541.3	37	c.174T>G	CCDS874.1	.	.	.	.	.	.	.	.	.	.	A	35	5.435783	0.96168	.	.	ENSG00000116752	ENST00000369541	.	.	.	4.63	2.34	0.29019	.	0.106609	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-0.9975	6.1681	0.20402	0.7088:0.0:0.2912:0.0	.	.	.	.	X	58	.	ENSP00000358554:Y58X	Y	-	3	2	BCAS2	114925455	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	2.155000	0.42301	0.908000	0.36671	0.451000	0.29950	TAT		0.448	BCAS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032871.1	NM_005872		18	178	0	0	0	1	0	18	178					C	115123932	A	C	115123932	4	2	81	1	0	0	0	0	0	1	0	0	1351	108	4	5	527	5	BCAS2	1	115123932	Nonsense_Mutation	SNP	A	TCGA-EJ-7218-01B-11D-A32B-08	59774566	115123932	134126689	3	4203											
FLG2	388698	broad.mit.edu	37	chr1	152324080	152324080	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tctcatgaactgaggatcctGactctccatgttgagatccg	9	12	9	11	1	2	4	1	4	2	1	6	6	4	5	3	1	1	1	3	1	1	1			TCGA-EJ-7218-01B-11D-A32B-08	TCGA-EJ-7218-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45c03982-3401-4737-b89c-b3a16aa6a7f4	1d53564b-d57c-4616-8950-9277fe4e08e5	g.chr1:152324080G>A	ENST00000388718.5	-	3	6254	c.6182C>T	c.(6181-6183)tCa>tTa	p.S2061L	FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	2061					establishment of skin barrier (GO:0061436)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGAGGATCCTGACTCTCCATG	0.532																																						ENST00000388718.5																			0				NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188						c.(6181-6183)tCa>tTa		filaggrin family member 2							529	471	490					1																	152324080		2203	4300	6503	SO:0001583	missense	388698						calcium ion binding|structural molecule activity	g.chr1:152324080G>A	AY827490	CCDS30861.1	1q21.3	2013-01-10			ENSG00000143520	ENSG00000143520		"EF-hand domain containing"	33276	protein-coding gene	gene with protein product						12477932	Standard	NM_001014342		Approved	IFPS	uc001ezw.4	Q5D862	OTTHUMG00000012245	ENST00000388718.5:c.6182C>T	1.37:g.152324080G>A	ENSP00000373370:p.Ser2061Leu					FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	p.S2061L	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	6254	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		2061					Q9H4U1	Missense_Mutation	SNP	ENST00000388718.5	37	c.6182C>T	CCDS30861.1	.	.	.	.	.	.	.	.	.	.	G	17.96	3.516009	0.64634	.	.	ENSG00000143520	ENST00000388718	T	0.08370	3.1	4.69	2.78	0.32641	.	.	.	.	.	T	0.06554	0.0168	M	0.80982	2.52	0.09310	N	1	P	0.48162	0.906	P	0.46585	0.521	T	0.21314	-1.0249	9	0.44086	T	0.13	.	6.3931	0.21597	0.0991:0.186:0.7149:0.0	.	2061	Q5D862	FILA2_HUMAN	L	2061	ENSP00000373370:S2061L	ENSP00000373370:S2061L	S	-	2	0	FLG2	150590704	0.001000	0.12720	0.049000	0.19019	0.009000	0.06853	0.934000	0.28910	0.691000	0.31592	0.644000	0.83932	TCA		0.532	FLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034018.5	NM_001014342		53	485	0	0	0	1	0	53	485					A	152324080	G	A	152324080	3	1	81	1	0	0	0	0	1	0	0	0	5923	1294	45	3	997	3	FLG2	1	152324080	Missense_Mutation	SNP	G	TCGA-EJ-7218-01B-11D-A32B-08	37200148	152324080	96926541	4	4204											
LCE1C	353133	broad.mit.edu	37	chr1	152777721	152777721	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gacctacggcgcctgtggtgGctcaggcagcagccacctcc	6	6	13	16	2	1	0	1	0	0	0	2	1	2	0	5	4	3	3	5	4	1	1			TCGA-EJ-7218-01B-11D-A32B-08	TCGA-EJ-7218-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45c03982-3401-4737-b89c-b3a16aa6a7f4	1d53564b-d57c-4616-8950-9277fe4e08e5	g.chr1:152777721G>A	ENST00000607093.1	-	1	233	c.234C>T	c.(232-234)agC>agT	p.S78S	LCE1C_ENST00000368768.1_Silent_p.S78S			Q5T751	LCE1C_HUMAN	late cornified envelope 1C	78	Gly-rich.				keratinization (GO:0031424)					NS(1)|lung(4)|prostate(1)|skin(2)|urinary_tract(1)	9	Lung NSC(65;9.06e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			GCCTGTGGTGGCTCAGGCAGC	0.706																																						ENST00000368768.1																			0				NS(1)|lung(4)|prostate(1)|skin(2)|urinary_tract(1)	9						c.(232-234)agC>agT		late cornified envelope 1C							32	39	36					1																	152777721		2202	4296	6498	SO:0001819	synonymous_variant	353133				keratinization			g.chr1:152777721G>A		CCDS1026.1	1q21.3	2008-02-05			ENSG00000197084	ENSG00000197084		"Late cornified envelopes"	29464	protein-coding gene	gene with protein product		612605				11698679	Standard	NM_001276331		Approved	LEP3	uc001fap.1	Q5T751	OTTHUMG00000012445	ENST00000607093.1:c.234C>T	1.37:g.152777721G>A						LCE1C_ENST00000607093.1_Silent_p.S78S	p.S78S	NM_178351.3	NP_848128.1	Q5T751	LCE1C_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		2	284	-	Lung NSC(65;9.06e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		78			Gly-rich.			Silent	SNP	ENST00000607093.1	37	c.234C>T	CCDS1026.1																																																																																				0.706	LCE1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034658.2	NM_178351		8	63	0	0	0	1	0	8	63					A	152777721	G	A	152777721	2	1	81	1	0	0	0	0	0	0	0	1	8661	1194	42	3		3	LCE1C	1	152777721	Silent	SNP	G	TCGA-EJ-7218-01B-11D-A32B-08	453641	152777721	96472900	5	4205											
ZBTB41	360023	broad.mit.edu	37	chr1	197169426	197169426	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agaacttaaaagctttctctGatctggagagggaggaagtt	13	11	12	5	0	2	3	0	1	2	2	3	6	2	5	0	3	2	2	0	3	4	3			TCGA-EJ-7218-01B-11D-A32B-08	TCGA-EJ-7218-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45c03982-3401-4737-b89c-b3a16aa6a7f4	1d53564b-d57c-4616-8950-9277fe4e08e5	g.chr1:197169426G>A	ENST00000367405.4	-	1	246	c.178C>T	c.(178-180)Cag>Tag	p.Q60*	ZBTB41_ENST00000467322.1_5'UTR|CRB1_ENST00000535699.1_5'Flank	NM_194314.2	NP_919290.2	Q5SVQ8	ZBT41_HUMAN	zinc finger and BTB domain containing 41	60					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(11)|lung(11)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)	40						AGCTTTCTCTGATCTGGAGAG	0.383																																						ENST00000367405.4																			0				NS(2)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(11)|lung(11)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)	40						c.(178-180)Cag>Tag		zinc finger and BTB domain containing 41							81	86	84					1																	197169426		2203	4300	6503	SO:0001587	stop_gained	360023				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:197169426G>A		CCDS30960.1	1q31.3	2013-01-08			ENSG00000177888	ENSG00000177888		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	24819	protein-coding gene	gene with protein product							Standard	NM_194314		Approved	FRBZ1, FLJ36199, DKFZp686C06120, ZNF924	uc001gtx.1	Q5SVQ8	OTTHUMG00000036275	ENST00000367405.4:c.178C>T	1.37:g.197169426G>A	ENSP00000356375:p.Gln60*					ZBTB41_ENST00000467322.1_5'UTR	p.Q60*	NM_194314.2	NP_919290.2	Q5SVQ8	ZBT41_HUMAN			1	246	-			60					A2RUA8|Q6MZT8|Q6ZR25|Q7Z4T1|Q8IZ99	Nonsense_Mutation	SNP	ENST00000367405.4	37	c.178C>T	CCDS30960.1	.	.	.	.	.	.	.	.	.	.	G	28.5	4.928611	0.92389	.	.	ENSG00000177888	ENST00000367405	.	.	.	4.96	4.96	0.65561	.	0.000000	0.41605	D	0.000849	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	13.8909	0.63738	0.0:0.1527:0.8473:0.0	.	.	.	.	X	60	.	ENSP00000356375:Q60X	Q	-	1	0	ZBTB41	195436049	1.000000	0.71417	1.000000	0.80357	0.891000	0.51852	4.522000	0.60539	2.265000	0.75225	0.305000	0.20034	CAG		0.383	ZBTB41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088249.2	NM_194314		7	57	0	0	0	1	0	7	57					A	197169426	G	A	197169426	4	1	81	1	0	0	0	0	0	1	0	0	17540	1299	45	3	2591	3	ZBTB41	1	197169426	Nonsense_Mutation	SNP	G	TCGA-EJ-7218-01B-11D-A32B-08	44391705	197169426	52081195	6	4206											
KLHL12	59349	broad.mit.edu	37	chr1	202863749	202863749	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gatcactccactggccactaCgagtccggcaccttcccggg	7	7	10	17	3	1	0	1	0	0	0	4	2	4	0	5	3	1	1	5	3	1	2			TCGA-EJ-7218-01B-11D-A32B-08	TCGA-EJ-7218-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45c03982-3401-4737-b89c-b3a16aa6a7f4	1d53564b-d57c-4616-8950-9277fe4e08e5	g.chr1:202863749C>T	ENST00000367261.3	-	9	1482	c.1264G>A	c.(1264-1266)Gta>Ata	p.V422I	KLHL12_ENST00000367259.1_Missense_Mutation_p.V155I|KLHL12_ENST00000435533.3_Missense_Mutation_p.V460I	NM_021633.2	NP_067646.1	Q53G59	KLH12_HUMAN	kelch-like family member 12	422	Interaction with DVL3.				COPII vesicle coating (GO:0048208)|ER to Golgi vesicle-mediated transport (GO:0006888)|protein monoubiquitination (GO:0006513)|Wnt signaling pathway (GO:0016055)	Cul3-RING ubiquitin ligase complex (GO:0031463)|ER to Golgi transport vesicle (GO:0030134)|Golgi membrane (GO:0000139)				NS(3)|breast(2)|endometrium(1)|large_intestine(1)|lung(6)|stomach(1)	14			BRCA - Breast invasive adenocarcinoma(75;0.166)			CTGGCCACTACGAGTCCGGCA	0.532																																						ENST00000367261.3																			0				NS(3)|breast(2)|endometrium(1)|large_intestine(1)|lung(6)|stomach(1)	14						c.(1264-1266)Gta>Ata		kelch-like family member 12							139	139	139					1																	202863749		2203	4300	6503	SO:0001583	missense	59349				Wnt receptor signaling pathway		protein binding	g.chr1:202863749C>T	AF190900	CCDS1429.1	1q32.1	2013-01-30	2013-01-30		ENSG00000117153	ENSG00000117153		"Kelch-like", "BTB/POZ domain containing"	19360	protein-coding gene	gene with protein product		614522	"kelch-like 12 (Drosophila)"			12477932	Standard	NM_021633		Approved	C3IP1	uc001gyo.1	Q53G59	OTTHUMG00000041385	ENST00000367261.3:c.1264G>A	1.37:g.202863749C>T	ENSP00000356230:p.Val422Ile					KLHL12_ENST00000367259.1_Missense_Mutation_p.V155I|KLHL12_ENST00000435533.3_Missense_Mutation_p.V460I	p.V422I	NM_021633.2	NP_067646.1	Q53G59	KLH12_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.166)		9	1482	-			422			Interaction with DVL3.		A6NEN8|B7Z7B8|Q9HBX5	Missense_Mutation	SNP	ENST00000367261.3	37	c.1264G>A	CCDS1429.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.110705	0.77210	.	.	ENSG00000117153	ENST00000367261;ENST00000367259;ENST00000435533	T;T;T	0.81247	-1.47;-1.47;-1.47	5.47	5.47	0.80525	Galactose oxidase, beta-propeller (1);	0.051642	0.85682	D	0.000000	T	0.80696	0.4672	M	0.68593	2.085	0.80722	D	1	B;B;B	0.32409	0.21;0.37;0.111	B;B;B	0.30855	0.102;0.121;0.043	T	0.80122	-0.1514	10	0.52906	T	0.07	.	19.6977	0.96034	0.0:1.0:0.0:0.0	.	460;422;155	B7Z7B8;Q53G59;Q9H7R2	.;KLH12_HUMAN;.	I	422;155;460	ENSP00000356230:V422I;ENSP00000356228:V155I;ENSP00000416886:V460I	ENSP00000356228:V155I	V	-	1	0	KLHL12	201130372	1.000000	0.71417	0.517000	0.27799	0.931000	0.56810	7.699000	0.84547	2.720000	0.93068	0.557000	0.71058	GTA		0.532	KLHL12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000099151.1	NM_021633		4	151	0	0	0	1	0	4	151					T	202863749	C	T	202863749	3	4	81	1	0	0	0	0	1	0	0	0	8368	536	19	1	458	1	KLHL12	1	202863749	Missense_Mutation	SNP	C	TCGA-EJ-7218-01B-11D-A32B-08	5694323	202863749	46386872	7	4207											
TTN	7273	broad.mit.edu	37	chr2	179449074	179449074	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atccagctttgtttagggcaTagattctgaatgaatactca	12	14	8	7	0	2	3	1	2	1	1	3	3	3	3	1	1	2	3	1	1	5	6			TCGA-EJ-7218-01B-11D-A32B-08	TCGA-EJ-7218-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45c03982-3401-4737-b89c-b3a16aa6a7f4	1d53564b-d57c-4616-8950-9277fe4e08e5	g.chr2:179449074T>C	ENST00000591111.1	-	261	60505	c.60281A>G	c.(60280-60282)tAt>tGt	p.Y20094C	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.Y12862C|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.Y12795C|TTN_ENST00000460472.2_Missense_Mutation_p.Y12670C|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.Y21735C|TTN-AS1_ENST00000590743.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.Y19167C|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA			Q8WZ42	TITIN_HUMAN	titin	20094	Fibronectin type-III 45. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GTTTAGGGCATAGATTCTGAA	0.428																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(65203-65205)tAt>tGt		titin							116	115	116					2																	179449074		1912	4125	6037	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179449074T>C	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.60281A>G	2.37:g.179449074T>C	ENSP00000465570:p.Tyr20094Cys					TTN_ENST00000460472.2_Missense_Mutation_p.Y12670C|TTN_ENST00000342992.6_Missense_Mutation_p.Y19167C|TTN_ENST00000359218.5_Missense_Mutation_p.Y12795C|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.Y20094C|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.Y12862C|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000419746.1_RNA	p.Y21735C	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		311	65428	-			20094			Ig-like 114.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.65204A>G		.	.	.	.	.	.	.	.	.	.	T	11.76	1.735367	0.30774	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.57907	0.37;0.37;0.37;0.37	5.97	5.97	0.96955	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.51975	0.1706	N	0.12920	0.275	0.37990	D	0.933892	D;D;D;D	0.69078	0.997;0.997;0.997;0.997	P;P;P;P	0.60173	0.87;0.87;0.87;0.87	T	0.62632	-0.6813	9	0.87932	D	0	.	12.3002	0.54870	0.0:0.0:0.1412:0.8588	.	12670;12795;12862;20094	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	C	19167;12670;12862;12795;12668	ENSP00000343764:Y19167C;ENSP00000434586:Y12670C;ENSP00000340554:Y12862C;ENSP00000352154:Y12795C	ENSP00000340554:Y12862C	Y	-	2	0	TTN	179157320	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	5.525000	0.67110	2.283000	0.76528	0.533000	0.62120	TAT		0.428	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		6	97	0	0	0	1	0	6	97					C	179449074	T	C	179449074	3	2	81	1	0	0	0	0	1	0	0	0	16732	1406	49	4	42983	4	TTN	2	179449074	Missense_Mutation	SNP	T	TCGA-EJ-7218-01B-11D-A32B-08		179449074	63750299	8	4208											
TTN	7273	broad.mit.edu	37	chr2	179615125	179615125	+	Intron	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gatgaacagatgaaagagttAatattgaatagttttccaac	17	12	8	4	0	0	5	0	3	0	2	1	6	1	5	1	0	2	2	1	0	7	6			TCGA-EJ-7218-01B-11D-A32B-08	TCGA-EJ-7218-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45c03982-3401-4737-b89c-b3a16aa6a7f4	1d53564b-d57c-4616-8950-9277fe4e08e5	g.chr2:179615125A>C	ENST00000591111.1	-	45	10585				TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000360870.5_Nonsense_Mutation_p.L4001*|TTN_ENST00000589042.1_Intron|TTN_ENST00000342992.6_Intron			Q8WZ42	TITIN_HUMAN	titin						adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGAAAGAGTTAATATTGAATA	0.333																																						ENST00000360870.5																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(12001-12003)tTa>tGa		titin							132	129	130					2																	179615125		2203	4299	6502	SO:0001627	intron_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179615125A>C	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.10360+2725T>G	2.37:g.179615125A>C						TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000589042.1_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000578746.1_RNA	p.L4001*	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		46	12224	-			9817					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Nonsense_Mutation	SNP	ENST00000591111.1	37	c.12002T>G		.	.	.	.	.	.	.	.	.	.	A	52	20.010234	0.99926	.	.	ENSG00000155657	ENST00000360870	.	.	.	5.43	5.43	0.79202	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.7715	0.78173	1.0:0.0:0.0:0.0	.	.	.	.	X	4001	.	ENSP00000354117:L4001X	L	-	2	0	TTN	179323370	1.000000	0.71417	0.745000	0.31077	0.141000	0.21300	8.870000	0.92336	2.186000	0.69663	0.533000	0.62120	TTA		0.333	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		5	55	0	0	0	1	0	5	55					C	179615125	A	C	179615125	1	2	81	0	1	0	0	0	0	0	0	0	16732	372	13	5		5	TTN	2	179615125	Intron	SNP	A	TCGA-EJ-7218-01B-11D-A32B-08	166051	179615125	63584248	9	4209											
NAT6	24142	broad.mit.edu	37	chr3	50334946	50334946	+	5'UTR	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttggctgggccagggctcagAgtcagctcttgcctatgcac	6	10	13	12	0	3	1	2	0	1	1	3	1	3	1	2	3	3	4	2	3	1	3			TCGA-EJ-7218-01B-11D-A32B-08	TCGA-EJ-7218-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45c03982-3401-4737-b89c-b3a16aa6a7f4	1d53564b-d57c-4616-8950-9277fe4e08e5	g.chr3:50334946A>C	ENST00000443842.1	-	0	756				HYAL3_ENST00000336307.1_Intron|NAT6_ENST00000443094.2_5'UTR|HYAL3_ENST00000359051.3_Intron|HYAL3_ENST00000450982.1_Intron|HYAL3_ENST00000513170.1_Intron|HYAL3_ENST00000415204.1_Intron|NAT6_ENST00000417393.1_5'UTR|NAT6_ENST00000354862.4_Silent_p.T5T			Q93015	NAT6_HUMAN	N-acetyltransferase 6 (GCN5-related)							cytoplasm (GO:0005737)	N-acetyltransferase activity (GO:0008080)			endometrium(3)|lung(1)|skin(1)	5				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)		CAGGGCTCAGAGTCAGCTCTT	0.602																																						ENST00000354862.4																			0				endometrium(3)|lung(1)|skin(1)	5						c.(13-15)acT>acG		N-acetyltransferase 6 (GCN5-related)							54	55	55					3																	50334946		2128	4247	6375	SO:0001623	5_prime_UTR_variant	24142							g.chr3:50334946A>C	AF040705	CCDS43095.1, CCDS56258.1	3p21.3	2011-11-16	2008-09-24		ENSG00000243477	ENSG00000243477	2.3.1.-		30252	protein-coding gene	gene with protein product		607073	"N-acetyltransferase 6"			11929860, 11085536	Standard	NM_012191		Approved	FUS2		Q93015	OTTHUMG00000156939	ENST00000443842.1:c.-52T>G	3.37:g.50334946A>C						NAT6_ENST00000417393.1_5'UTR|HYAL3_ENST00000513170.1_Intron|NAT6_ENST00000443842.1_5'UTR|HYAL3_ENST00000450982.1_Intron|HYAL3_ENST00000415204.1_Intron|HYAL3_ENST00000359051.3_Intron|HYAL3_ENST00000336307.1_Intron|NAT6_ENST00000443094.2_5'UTR	p.T5T	NM_012191.3	NP_036323.2				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)	2	216	-								Q93014	Silent	SNP	ENST00000443842.1	37	c.15T>G	CCDS56258.1																																																																																				0.602	NAT6-002	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000346681.1	NM_012191		4	18	0	0	0	1	0	4	18					C	50334946	A	C	50334946	1	2	81	0	1	0	0	0	0	0	0	0	10178	291	11	5		5	NAT6	3	50334946	5'UTR	SNP	A	TCGA-EJ-7218-01B-11D-A32B-08		50334946	147687484	10	4210											
CP	1356	broad.mit.edu	37	chr3	148895640	148895640	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctcttaccttgtattggaagCtatggccgtgaaaatgtaca	11	13	9	8	1	1	1	0	1	1	0	1	2	1	2	2	2	3	3	2	2	7	6			TCGA-EJ-7218-01B-11D-A32B-08	TCGA-EJ-7218-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45c03982-3401-4737-b89c-b3a16aa6a7f4	1d53564b-d57c-4616-8950-9277fe4e08e5	g.chr3:148895640C>A	ENST00000264613.6	-	17	3267	c.3005G>T	c.(3004-3006)aGc>aTc	p.S1002I		NM_000096.3	NP_000087	P00450	CERU_HUMAN	ceruloplasmin (ferroxidase)	1002	F5/8 type A 3.|Plastocyanin-like 6.				cellular iron ion homeostasis (GO:0006879)|copper ion transport (GO:0006825)|transmembrane transport (GO:0055085)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)	chaperone binding (GO:0051087)|copper ion binding (GO:0005507)|ferroxidase activity (GO:0004322)			breast(6)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		Prostate(884;0.00217)|Hepatocellular(537;0.00826)|Myeloproliferative disorder(1037;0.0122)|all_neural(597;0.0189)|Melanoma(1037;0.152)	LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)		Drotrecogin alfa(DB00055)	GTATTGGAAGCTATGGCCGTG	0.393																																						ENST00000264613.6																			0				breast(6)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						c.(3004-3006)aGc>aTc		ceruloplasmin (ferroxidase)	Drotrecogin alfa(DB00055)						212	187	195					3																	148895640		2203	4300	6503	SO:0001583	missense	1356				cellular iron ion homeostasis|copper ion transport|transmembrane transport	extracellular space	chaperone binding|ferroxidase activity	g.chr3:148895640C>A	M13536	CCDS3141.1	3q23-q25	2010-07-01			ENSG00000047457	ENSG00000047457	1.16.3.1		2295	protein-coding gene	gene with protein product		117700					Standard	NM_000096		Approved		uc003ewy.4	P00450	OTTHUMG00000159563	ENST00000264613.6:c.3005G>T	3.37:g.148895640C>A	ENSP00000264613:p.Ser1002Ile						p.S1002I	NM_000096.3	NP_000087.1	P00450	CERU_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)		17	3267	-		Prostate(884;0.00217)|Hepatocellular(537;0.00826)|Myeloproliferative disorder(1037;0.0122)|all_neural(597;0.0189)|Melanoma(1037;0.152)	1002			F5/8 type A 3.|Plastocyanin-like 6.		Q14063|Q2PP18|Q9UKS4	Missense_Mutation	SNP	ENST00000264613.6	37	c.3005G>T	CCDS3141.1	.	.	.	.	.	.	.	.	.	.	C	16.83	3.232041	0.58777	.	.	ENSG00000047457	ENST00000479771;ENST00000264613;ENST00000494544	D;D;D	0.99706	-6.47;-6.47;-6.47	5.6	5.6	0.85130	Cupredoxin (2);Multicopper oxidase, type 2 (1);	0.040310	0.85682	D	0.000000	D	0.99625	0.9863	M	0.67625	2.065	0.58432	D	0.999998	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;0.999;0.999	D	0.98333	1.0534	10	0.66056	D	0.02	-24.2106	19.6155	0.95632	0.0:1.0:0.0:0.0	.	1002;1002;1002;715	A8K5A4;P00450;Q1L857;B3KTA8	.;CERU_HUMAN;.;.	I	137;1002;785	ENSP00000420367:S137I;ENSP00000264613:S1002I;ENSP00000420545:S785I	ENSP00000264613:S1002I	S	-	2	0	CP	150378330	1.000000	0.71417	1.000000	0.80357	0.478000	0.33099	2.700000	0.47085	2.629000	0.89072	0.557000	0.71058	AGC		0.393	CP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317498.1	NM_000096		5	99	1	0	0.014758	1	0.0156615	5	99					A	148895640	C	A	148895640	3	1	81	1	0	0	0	0	1	0	0	0	3787	797	28	5	204	5	CP	3	148895640	Missense_Mutation	SNP	C	TCGA-EJ-7218-01B-11D-A32B-08	98560694	148895640	49126790	11	4211											
LEPREL1	55214	broad.mit.edu	37	chr3	189702344	189702344	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgaatggacttaccgattCtcatcctgtcgtcctccata	8	14	6	13	2	2	1	1	1	2	0	7	3	5	2	4	1	1	0	4	1	3	3			TCGA-EJ-7218-01B-11D-A32B-08	TCGA-EJ-7218-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45c03982-3401-4737-b89c-b3a16aa6a7f4	1d53564b-d57c-4616-8950-9277fe4e08e5	g.chr3:189702344C>A	ENST00000319332.5	-	7	1421	c.1224G>T	c.(1222-1224)gaG>gaT	p.E408D	LEPREL1_ENST00000427335.2_Missense_Mutation_p.E227D	NM_018192.3	NP_060662.2	Q8IVL5	P3H2_HUMAN	leprecan-like 1	408					collagen metabolic process (GO:0032963)|extracellular matrix organization (GO:0030198)|negative regulation of cell proliferation (GO:0008285)|peptidyl-proline hydroxylation (GO:0019511)	basement membrane (GO:0005604)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|Golgi apparatus (GO:0005794)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|procollagen-proline 3-dioxygenase activity (GO:0019797)			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(5)	41	all_cancers(143;4.01e-10)|Ovarian(172;0.0925)		Lung(62;4.35e-05)	GBM - Glioblastoma multiforme(93;0.02)	L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	CTTACCGATTCTCATCCTGTC	0.328																																						ENST00000319332.5																			0				NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(5)	41						c.(1222-1224)gaG>gaT		leprecan-like 1	L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)						158	149	152					3																	189702344		2203	4300	6503	SO:0001583	missense	55214				collagen metabolic process|negative regulation of cell proliferation|peptidyl-proline hydroxylation	basement membrane|endoplasmic reticulum|Golgi apparatus	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 3-dioxygenase activity	g.chr3:189702344C>A		CCDS3294.1, CCDS46981.1	3q29	2014-01-28			ENSG00000090530	ENSG00000090530	1.14.11.7		19317	protein-coding gene	gene with protein product	"prolyl 3-hydroxylase 2"	610341				15063763, 21885030	Standard	NM_018192		Approved	FLJ10718, MLAT4, P3H2	uc011bsk.2	Q8IVL5	OTTHUMG00000156312	ENST00000319332.5:c.1224G>T	3.37:g.189702344C>A	ENSP00000316881:p.Glu408Asp					LEPREL1_ENST00000427335.2_Missense_Mutation_p.E227D	p.E408D	NM_018192.3	NP_060662.2	Q8IVL5	P3H2_HUMAN	Lung(62;4.35e-05)	GBM - Glioblastoma multiforme(93;0.02)	7	1421	-	all_cancers(143;4.01e-10)|Ovarian(172;0.0925)		408					B3KPK0|B3KWI9|D3DNV8|Q9NVI2	Missense_Mutation	SNP	ENST00000319332.5	37	c.1224G>T	CCDS3294.1	.	.	.	.	.	.	.	.	.	.	C	12.53	1.964186	0.34659	.	.	ENSG00000090530	ENST00000319332;ENST00000427335	T;T	0.37411	1.2;1.52	5.87	0.353	0.16058	.	0.290468	0.39020	N	0.001492	T	0.19765	0.0475	L	0.38838	1.175	0.37362	D	0.91126	B	0.15141	0.012	B	0.16289	0.015	T	0.07252	-1.0782	9	.	.	.	-22.9122	1.8235	0.03116	0.1307:0.3976:0.128:0.3438	.	408	Q8IVL5	P3H2_HUMAN	D	408;227	ENSP00000316881:E408D;ENSP00000408947:E227D	.	E	-	3	2	LEPREL1	191185038	0.971000	0.33674	1.000000	0.80357	0.958000	0.62258	-0.019000	0.12546	0.640000	0.30582	0.655000	0.94253	GAG		0.328	LEPREL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343855.1	NM_018192		3	44	1	0	0.004672	1	0.00506133	3	44					A	189702344	C	A	189702344	3	1	81	1	0	0	0	0	1	0	0	0	8730	912	32	5	938	5	LEPREL1	3	189702344	Missense_Mutation	SNP	C	TCGA-EJ-7218-01B-11D-A32B-08	40806704	189702344	8320086	12	4212											
CNGA1	1259	broad.mit.edu	37	chr4	47938584	47938584	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctcatactcagccaagattcGggcaaacctggtttgcagga	11	9	10	11	1	2	1	2	0	0	1	3	2	2	2	2	3	4	3	2	3	3	3			TCGA-EJ-7218-01B-11D-A32B-08	TCGA-EJ-7218-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45c03982-3401-4737-b89c-b3a16aa6a7f4	1d53564b-d57c-4616-8950-9277fe4e08e5	g.chr4:47938584G>A	ENST00000514170.1	-	11	2246	c.1927C>T	c.(1927-1929)Cga>Tga	p.R643*	CNGA1_ENST00000402813.3_Nonsense_Mutation_p.R712*|CNGA1_ENST00000358519.4_Nonsense_Mutation_p.R643*|CNGA1_ENST00000544810.1_Nonsense_Mutation_p.R643*|CNGA1_ENST00000420489.2_Nonsense_Mutation_p.R643*			P29973	CNGA1_HUMAN	cyclic nucleotide gated channel alpha 1	643					phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|photoreceptor outer segment membrane (GO:0042622)|plasma membrane (GO:0005886)	cGMP binding (GO:0030553)|intracellular cAMP activated cation channel activity (GO:0005222)|intracellular cGMP activated cation channel activity (GO:0005223)|voltage-gated potassium channel activity (GO:0005249)	p.R643*(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|urinary_tract(1)	28						GCCAAGATTCGGGCAAACCTG	0.428																																						ENST00000402813.3																			1	Substitution - Nonsense(1)	p.R643*(1)	ovary(1)	central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|urinary_tract(1)	28						c.(2134-2136)Cga>Tga		cyclic nucleotide gated channel alpha 1							133	128	129					4																	47938584		1888	4112	6000	SO:0001587	stop_gained	1259				response to stimulus|visual perception	integral to plasma membrane	cGMP binding|ion channel activity	g.chr4:47938584G>A	M84741	CCDS43226.1, CCDS47050.1	4p12	2013-02-14				ENSG00000198515		"Voltage-gated ion channels / Cyclic nucleotide-regulated channels"	2148	protein-coding gene	gene with protein product		123825		CNCG1, CNCG		7683629, 16382102	Standard	NM_000087		Approved	RCNC1, RCNCa, CNG1, RP49	uc003gxu.3	P29973		ENST00000514170.1:c.1927C>T	4.37:g.47938584G>A	ENSP00000426862:p.Arg643*					CNGA1_ENST00000420489.2_Nonsense_Mutation_p.R643*|CNGA1_ENST00000358519.4_Nonsense_Mutation_p.R643*|CNGA1_ENST00000514170.1_Nonsense_Mutation_p.R643*|CNGA1_ENST00000544810.1_Nonsense_Mutation_p.R643*	p.R712*			P29973	CNGA1_HUMAN			10	2276	-			643					A8K7K6|J3KPZ2|Q16279|Q16485|Q4W5E3	Nonsense_Mutation	SNP	ENST00000514170.1	37	c.2134C>T	CCDS43226.1	.	.	.	.	.	.	.	.	.	.	G	34	5.318310	0.95682	.	.	ENSG00000198515	ENST00000402813;ENST00000514170;ENST00000544810;ENST00000358519;ENST00000420489	.	.	.	4.77	3.87	0.44632	.	0.053822	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.1109	0.53838	0.0:0.0:0.6899:0.3101	.	.	.	.	X	712;643;643;643;643	.	ENSP00000351320:R643X	R	-	1	2	CNGA1	47633341	1.000000	0.71417	0.998000	0.56505	0.936000	0.57629	3.084000	0.50143	2.352000	0.79861	0.491000	0.48974	CGA		0.428	CNGA1-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000372070.2	NM_000087		6	126	0	0	0	1	0	6	126					A	47938584	G	A	47938584	4	1	81	1	0	0	0	0	0	1	0	0	3596	1124	39	2	149	2	CNGA1	4	47938584	Nonsense_Mutation	SNP	G	TCGA-EJ-7218-01B-11D-A32B-08		47938584	143215692	13	4213											
EGF	1950	broad.mit.edu	37	chr4	110864414	110864414	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aaatttgattttgcagagagTatgtaatatagagaaaaatg	18	13	9	1	0	0	3	0	1	0	2	0	5	0	3	0	0	1	3	0	0	7	7			TCGA-EJ-7218-01B-11D-A32B-08	TCGA-EJ-7218-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45c03982-3401-4737-b89c-b3a16aa6a7f4	1d53564b-d57c-4616-8950-9277fe4e08e5	g.chr4:110864414T>G	ENST00000265171.5	+	3	777	c.332T>G	c.(331-333)gTa>gGa	p.V111G	EGF_ENST00000503392.1_Missense_Mutation_p.V111G|EGF_ENST00000509793.1_Missense_Mutation_p.V111G|EGF_ENST00000502723.1_3'UTR	NM_001178130.1|NM_001963.4	NP_001171601.1|NP_001954.2	P01133	EGF_HUMAN	epidermal growth factor	111					activation of MAPKK activity (GO:0000186)|activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|branching morphogenesis of an epithelial tube (GO:0048754)|DNA replication (GO:0006260)|epidermal growth factor receptor signaling pathway (GO:0007173)|ERK1 and ERK2 cascade (GO:0070371)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|mammary gland alveolus development (GO:0060749)|negative regulation of cholesterol efflux (GO:0090370)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of secretion (GO:0051048)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cerebellar granule cell precursor proliferation (GO:0021940)|positive regulation of DNA binding (GO:0043388)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of hyaluronan biosynthetic process (GO:1900127)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of mitosis (GO:0045840)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of calcium ion import (GO:0090279)|regulation of protein localization to cell surface (GO:2000008)|signal transduction (GO:0007165)|STAT protein import into nucleus (GO:0007262)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	calcium ion binding (GO:0005509)|epidermal growth factor receptor binding (GO:0005154)|growth factor activity (GO:0008083)|transmembrane receptor protein tyrosine kinase activator activity (GO:0030297)			breast(1)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Hepatocellular(203;0.0893)		OV - Ovarian serous cystadenocarcinoma(123;9.87e-06)	Sucralfate(DB00364)	TTGCAGAGAGTATGTAATATA	0.249																																						ENST00000265171.5																			0				breast(1)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						c.(331-333)gTa>gGa		epidermal growth factor	Sulindac(DB00605)						40	47	45					4																	110864414		2194	4286	6480	SO:0001583	missense	1950				angiogenesis|DNA replication|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of secretion|platelet activation|platelet degranulation|positive regulation of catenin import into nucleus|positive regulation of epidermal growth factor receptor activity|positive regulation of MAP kinase activity|positive regulation of mitosis|regulation of calcium ion import|regulation of protein localization at cell surface	integral to membrane|plasma membrane|platelet alpha granule lumen	calcium ion binding|epidermal growth factor receptor binding|growth factor activity|transmembrane receptor protein tyrosine kinase activator activity	g.chr4:110864414T>G	X04571	CCDS3689.1, CCDS54794.1, CCDS54795.1	4q25	2012-10-02	2010-05-11		ENSG00000138798	ENSG00000138798			3229	protein-coding gene	gene with protein product		131530	"epidermal growth factor (beta-urogastrone)"				Standard	NM_001963		Approved		uc003hzy.4	P01133	OTTHUMG00000132044	ENST00000265171.5:c.332T>G	4.37:g.110864414T>G	ENSP00000265171:p.Val111Gly					EGF_ENST00000502723.1_3'UTR|EGF_ENST00000503392.1_Missense_Mutation_p.V111G|EGF_ENST00000509793.1_Missense_Mutation_p.V111G	p.V111G	NM_001178130.1|NM_001963.4	NP_001171601.1|NP_001954.2	P01133	EGF_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;9.87e-06)	3	777	+		Hepatocellular(203;0.0893)	111					B4DRK7|E7EVD2|E9PBF0|Q52LZ6	Missense_Mutation	SNP	ENST00000265171.5	37	c.332T>G	CCDS3689.1	.	.	.	.	.	.	.	.	.	.	T	15.92	2.975650	0.53720	.	.	ENSG00000138798	ENST00000509793;ENST00000265171;ENST00000503392	T;T;T	0.35973	1.28;1.28;1.28	5.7	5.7	0.88788	Six-bladed beta-propeller, TolB-like (1);	0.182497	0.48286	D	0.000190	T	0.51432	0.1674	M	0.78456	2.415	0.30588	N	0.761787	P;P;P	0.50943	0.901;0.94;0.837	B;P;B	0.49502	0.408;0.613;0.312	T	0.63042	-0.6725	10	0.87932	D	0	.	15.9677	0.79987	0.0:0.0:0.0:1.0	.	111;111;111	E7EVD2;P01133-2;P01133	.;.;EGF_HUMAN	G	111	ENSP00000424316:V111G;ENSP00000265171:V111G;ENSP00000421384:V111G	ENSP00000265171:V111G	V	+	2	0	EGF	111083863	0.345000	0.24835	0.542000	0.28115	0.977000	0.68977	3.892000	0.56235	2.181000	0.69327	0.533000	0.62120	GTA		0.249	EGF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255065.1			11	35	0	0	0	1	0	11	35					G	110864414	T	G	110864414	3	3	81	1	0	0	0	0	1	0	0	0	4962	1638	57	5	342	5	EGF	4	110864414	Missense_Mutation	SNP	T	TCGA-EJ-7218-01B-11D-A32B-08	62925830	110864414	80289862	14	4214											
COL9A1	1297	broad.mit.edu	37	chr6	70961830	70961830	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	aaggaatactcacaggaagcCcctggggtcctcggggtccc	9	6	13	13	1	1	0	1	0	0	0	4	2	3	2	4	6	2	0	4	6	4	1			TCGA-EJ-7218-01B-11D-A32B-08	TCGA-EJ-7218-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45c03982-3401-4737-b89c-b3a16aa6a7f4	1d53564b-d57c-4616-8950-9277fe4e08e5	g.chr6:70961830C>T	ENST00000357250.6	-	28	2023	c.1865G>A	c.(1864-1866)gGg>gAg	p.G622E	COL9A1_ENST00000370499.4_Missense_Mutation_p.G379E|COL9A1_ENST00000320755.7_Missense_Mutation_p.G379E|COL9A1_ENST00000489611.1_5'UTR	NM_001851.4	NP_001842.3	P20849	CO9A1_HUMAN	collagen, type IX, alpha 1	622	Collagen-like 6.|Triple-helical region (COL2).				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|growth plate cartilage development (GO:0003417)|organ morphogenesis (GO:0009887)|tissue homeostasis (GO:0001894)	collagen type IX trimer (GO:0005594)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)|metal ion binding (GO:0046872)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(44)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)	80						CACAGGAAGCCCCTGGGGTCC	0.488																																						ENST00000357250.6																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(44)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)	80						c.(1864-1866)gGg>gAg		collagen, type IX, alpha 1							107	120	116					6																	70961830		2203	4300	6503	SO:0001583	missense	1297				axon guidance|cell adhesion|organ morphogenesis	collagen type IX	metal ion binding	g.chr6:70961830C>T		CCDS4971.1, CCDS47447.1	6q13	2013-05-07			ENSG00000112280	ENSG00000112280		"Proteoglycans / Extracellular Matrix : Collagen proteoglycans", "Collagens"	2217	protein-coding gene	gene with protein product		120210				1429648	Standard	NM_001851		Approved		uc003pfg.4	P20849	OTTHUMG00000014988	ENST00000357250.6:c.1865G>A	6.37:g.70961830C>T	ENSP00000349790:p.Gly622Glu					COL9A1_ENST00000320755.7_Missense_Mutation_p.G379E|COL9A1_ENST00000370499.4_Missense_Mutation_p.G379E|COL9A1_ENST00000489611.1_5'UTR	p.G622E	NM_001851.4	NP_001842.3	P20849	CO9A1_HUMAN			28	2023	-			622			Triple-helical region (COL2).		Q13699|Q13700|Q5TF52|Q6P467|Q96BM8|Q99225|Q9H151|Q9H152|Q9Y6P2|Q9Y6P3	Missense_Mutation	SNP	ENST00000357250.6	37	c.1865G>A	CCDS4971.1	.	.	.	.	.	.	.	.	.	.	C	14.59	2.579457	0.46006	.	.	ENSG00000112280	ENST00000357250;ENST00000320755;ENST00000370499	D;D;D	0.99619	-6.28;-5.89;-5.89	5.79	5.79	0.91817	.	0.000000	0.85682	D	0.000000	D	0.99837	0.9926	H	0.97491	4.015	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.96963	0.9703	10	0.87932	D	0	.	18.2205	0.89899	0.0:1.0:0.0:0.0	.	622;379;195	P20849;P20849-2;B3KWS8	CO9A1_HUMAN;.;.	E	622;379;379	ENSP00000349790:G622E;ENSP00000315252:G379E;ENSP00000359530:G379E	ENSP00000315252:G379E	G	-	2	0	COL9A1	71018551	0.997000	0.39634	0.945000	0.38365	0.140000	0.21249	5.600000	0.67599	2.733000	0.93635	0.655000	0.94253	GGG		0.488	COL9A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041131.2			4	136	0	0	0	1	0	4	136					T	70961830	C	T	70961830	3	4	81	1	0	0	0	0	1	0	0	0	3707	623	22	3	944	3	COL9A1	6	70961830	Missense_Mutation	SNP	C	TCGA-EJ-7218-01B-11D-A32B-08		70961830	100153237	15	4215											
DNAH11	8701	broad.mit.edu	37	chr7	21826345	21826345	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcctcggggaagagtgcccaAagaccgaagttggaaagcag	13	5	14	9	2	0	2	0	0	0	2	2	5	1	4	3	3	2	2	3	3	4	1			TCGA-EJ-7218-01B-11D-A32B-08	TCGA-EJ-7218-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45c03982-3401-4737-b89c-b3a16aa6a7f4	1d53564b-d57c-4616-8950-9277fe4e08e5	g.chr7:21826345A>G	ENST00000409508.3	+	59	9732	c.9701A>G	c.(9700-9702)aAa>aGa	p.K3234R	DNAH11_ENST00000328843.6_Missense_Mutation_p.K3241R	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	3241	Stalk. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						AGAGTGCCCAAAGACCGAAGT	0.493									Kartagener syndrome																													ENST00000328843.6																			0				NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						c.(9721-9723)aAa>aGa		dynein, axonemal, heavy chain 11							153	148	150					7																	21826345		1911	4126	6037	SO:0001583	missense	8701	Kartagener syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr7:21826345A>G	U83569	CCDS64602.1	7p21	2008-07-18	2006-09-04					"Axonemal dyneins"	2942	protein-coding gene	gene with protein product	"dynein, ciliary, heavy chain 11", "dynein, heavy chain beta-like"	603339	"dynein, axonemal, heavy polypeptide 11"			9256245	Standard	NM_001277115		Approved	Dnahc11, DPL11, CILD7, DNAHC11, DNAHBL, DNHBL	uc031swp.1	Q96DT5		ENST00000409508.3:c.9701A>G	7.37:g.21826345A>G	ENSP00000475939:p.Lys3234Arg					DNAH11_ENST00000409508.3_Missense_Mutation_p.K3234R	p.K3241R			Q96DT5	DYH11_HUMAN			60	9753	+			3241			Stalk (By similarity).		Q9UJ82	Missense_Mutation	SNP	ENST00000409508.3	37	c.9722A>G		.	.	.	.	.	.	.	.	.	.	A	20.1	3.932052	0.73442	.	.	ENSG00000105877	ENST00000328843	T	0.79653	-1.29	6.03	3.71	0.42584	Dynein heavy chain, coiled coil stalk (1);	0.265332	0.42964	N	0.000629	T	0.78381	0.4274	.	.	.	0.53005	D	0.999969	P	0.40250	0.709	P	0.45099	0.469	T	0.76061	-0.3097	9	0.41790	T	0.15	.	9.5868	0.39521	0.859:0.0:0.141:0.0	.	3241	Q96DT5	DYH11_HUMAN	R	3241	ENSP00000330671:K3241R	ENSP00000330671:K3241R	K	+	2	0	DNAH11	21792870	1.000000	0.71417	0.891000	0.34965	0.997000	0.91878	4.785000	0.62418	1.113000	0.41760	0.533000	0.62120	AAA		0.493	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000326582.6	NM_003777		15	94	0	0	0	1	0	15	94					G	21826345	A	G	21826345	3	3	81	1	0	0	0	0	1	0	0	0	4599	14	1	4	9957	4	DNAH11	7	21826345	Missense_Mutation	SNP	A	TCGA-EJ-7218-01B-11D-A32B-08		21826345	137312318	16	4216											
ELMO1	9844	broad.mit.edu	37	chr7	36910037	36910037	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cctttctctttcatatgaggGcagtcctttcccgtcaccac	6	14	6	15	1	3	1	2	1	1	0	6	1	5	1	4	1	0	1	4	1	1	4			TCGA-EJ-7218-01B-11D-A32B-08	TCGA-EJ-7218-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45c03982-3401-4737-b89c-b3a16aa6a7f4	1d53564b-d57c-4616-8950-9277fe4e08e5	g.chr7:36910037G>A	ENST00000310758.4	-	20	2513	c.1866C>T	c.(1864-1866)tgC>tgT	p.C622C	ELMO1_ENST00000396040.2_Silent_p.C142C|ELMO1_ENST00000442504.1_Silent_p.C622C|ELMO1_ENST00000396045.3_Silent_p.C142C|ELMO1_ENST00000341056.3_Silent_p.C324C|ELMO1_ENST00000448602.1_Silent_p.C622C	NM_001206480.1|NM_014800.10	NP_001193409.1|NP_055615.8	Q92556	ELMO1_HUMAN	engulfment and cell motility 1	622	PH.				actin cytoskeleton organization (GO:0030036)|apoptotic process (GO:0006915)|cellular component movement (GO:0006928)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|phagocytosis, engulfment (GO:0006911)|Rac protein signal transduction (GO:0016601)|regulation of defense response to virus by virus (GO:0050690)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	SH3 domain binding (GO:0017124)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(28)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	58						TCATATGAGGGCAGTCCTTTC	0.433																																						ENST00000310758.4																			0				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(28)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	58						c.(1864-1866)tgC>tgT		engulfment and cell motility 1							180	163	169					7																	36910037		2203	4300	6503	SO:0001819	synonymous_variant	9844				actin cytoskeleton organization|apoptosis|cellular component movement|phagocytosis, engulfment|Rac protein signal transduction|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|plasma membrane	SH3 domain binding	g.chr7:36910037G>A	AF398885	CCDS5449.1, CCDS5450.1	7p14.1	2012-07-10	2006-01-20		ENSG00000155849	ENSG00000155849		"Engulfment and cell motility proteins"	16286	protein-coding gene	gene with protein product		606420	"engulfment and cell motility 1 (ced-12 homolog, C. elegans)"			11595183	Standard	NM_001039459		Approved	KIAA0281, CED12, ELMO-1, CED-12	uc003tfk.2	Q92556	OTTHUMG00000023701	ENST00000310758.4:c.1866C>T	7.37:g.36910037G>A						ELMO1_ENST00000442504.1_Silent_p.C622C|ELMO1_ENST00000341056.3_Silent_p.C324C|ELMO1_ENST00000396040.2_Silent_p.C142C|ELMO1_ENST00000396045.3_Silent_p.C142C|ELMO1_ENST00000448602.1_Silent_p.C622C	p.C622C	NM_001206480.1|NM_014800.10	NP_001193409.1|NP_055615.8	Q92556	ELMO1_HUMAN			20	2513	-			622			PH.		A4D1X6|Q29R79|Q6ZTJ0|Q96PB0|Q9H0I1	Silent	SNP	ENST00000310758.4	37	c.1866C>T	CCDS5449.1																																																																																				0.433	ELMO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219830.4	NM_130442		6	76	0	0	0	1	0	6	76					A	36910037	G	A	36910037	2	1	81	1	0	0	0	0	0	0	0	1	5065	1195	42	3		3	ELMO1	7	36910037	Silent	SNP	G	TCGA-EJ-7218-01B-11D-A32B-08	15083692	36910037	122228626	17	4217											
MUC17	140453	broad.mit.edu	37	chr7	100678485	100678485	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagttcctctcctacaaccgCtgaaggtaccagcttgccaa	10	9	7	15	1	1	1	0	1	1	0	3	1	2	1	5	1	5	4	5	1	5	4			TCGA-EJ-7218-01B-11D-A32B-08	TCGA-EJ-7218-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45c03982-3401-4737-b89c-b3a16aa6a7f4	1d53564b-d57c-4616-8950-9277fe4e08e5	g.chr7:100678485C>T	ENST00000306151.4	+	3	3852	c.3788C>T	c.(3787-3789)gCt>gTt	p.A1263V		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1263	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CCTACAACCGCTGAAGGTACC	0.522																																						ENST00000306151.4																			0				NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343						c.(3787-3789)gCt>gTt		mucin 17, cell surface associated							284	275	278					7																	100678485		2203	4300	6503	SO:0001583	missense	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100678485C>T	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"Mucins"	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.3788C>T	7.37:g.100678485C>T	ENSP00000302716:p.Ala1263Val						p.A1263V	NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN			3	3852	+	Lung NSC(181;0.136)|all_lung(186;0.182)		1263			59 X approximate tandem repeats.|Ser-rich.		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	c.3788C>T	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	C	3.254	-0.152704	0.06585	.	.	ENSG00000169876	ENST00000306151	T	0.02656	4.21	0.632	-0.548	0.11833	.	.	.	.	.	T	0.01730	0.0055	N	0.14661	0.345	0.09310	N	1	B	0.21225	0.053	B	0.15484	0.013	T	0.47898	-0.9081	8	0.29301	T	0.29	.	.	.	.	.	1263	Q685J3	MUC17_HUMAN	V	1263	ENSP00000302716:A1263V	ENSP00000302716:A1263V	A	+	2	0	MUC17	100465205	0.000000	0.05858	0.001000	0.08648	0.005000	0.04900	0.570000	0.23653	-0.222000	0.09958	0.134000	0.15878	GCT		0.522	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		84	293	0	0	0	1	0	84	293					T	100678485	C	T	100678485	3	4	81	1	0	0	0	0	1	0	0	0	9974	797	28	3	3798	3	MUC17	7	100678485	Missense_Mutation	SNP	C	TCGA-EJ-7218-01B-11D-A32B-08	63768448	100678485	58460178	18	4218											
CRYGN	155051	broad.mit.edu	37	chr7	151127216	151127216	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtccttgatctgattgaagaGagctgctcagctggaagtcc	9	11	12	9	0	2	4	1	3	1	1	4	6	4	5	2	1	3	3	2	1	2	2			TCGA-EJ-7218-01B-11D-A32B-08	TCGA-EJ-7218-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45c03982-3401-4737-b89c-b3a16aa6a7f4	1d53564b-d57c-4616-8950-9277fe4e08e5	g.chr7:151127216G>C	ENST00000337323.2	-	4	593	c.467C>G	c.(466-468)tCt>tGt	p.S156C	RP4-555L14.4_ENST00000465549.1_RNA|CRYGN_ENST00000476631.1_5'UTR|CRYGN_ENST00000491928.1_3'UTR	NM_144727.1	NP_653328.1	Q8WXF5	CRGN_HUMAN	crystallin, gamma N	156										central_nervous_system(1)|kidney(1)|large_intestine(1)|liver(1)|lung(4)	8			OV - Ovarian serous cystadenocarcinoma(82;0.00358)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TGATTGAAGAGAGCTGCTCAG	0.552																																						ENST00000337323.2																			0				central_nervous_system(1)|kidney(1)|large_intestine(1)|liver(1)|lung(4)	8						c.(466-468)tCt>tGt		crystallin, gamma N							208	164	179					7																	151127216		2203	4300	6503	SO:0001583	missense	155051							g.chr7:151127216G>C	AF445455	CCDS5926.1	7q36.1	2003-02-25			ENSG00000127377	ENSG00000127377			20458	protein-coding gene	gene with protein product		609603					Standard	NM_144727		Approved		uc003wke.3	Q8WXF5	OTTHUMG00000157353	ENST00000337323.2:c.467C>G	7.37:g.151127216G>C	ENSP00000338613:p.Ser156Cys					RP4-555L14.4_ENST00000465549.1_RNA|CRYGN_ENST00000476631.1_5'UTR	p.S156C	NM_144727.1	NP_653328.1	Q8WXF5	CRGN_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00358)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	4	593	-			156					Q496G6	Missense_Mutation	SNP	ENST00000337323.2	37	c.467C>G	CCDS5926.1	.	.	.	.	.	.	.	.	.	.	G	11.17	1.560153	0.27827	.	.	ENSG00000127377	ENST00000337323	T	0.80304	-1.36	1.91	-1.6	0.08426	.	0.327625	0.32002	U	0.006725	T	0.54127	0.1839	N	0.08118	0	0.09310	N	1	P	0.47762	0.9	B	0.40602	0.334	T	0.57985	-0.7716	10	0.87932	D	0	.	2.7328	0.05232	0.1716:0.0:0.3441:0.4843	.	156	Q8WXF5	CRGN_HUMAN	C	156	ENSP00000338613:S156C	ENSP00000338613:S156C	S	-	2	0	CRYGN	150758149	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-0.140000	0.10342	-0.450000	0.07107	-0.314000	0.08810	TCT		0.552	CRYGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348553.1			7	44	0	0	0	1	0	7	44					C	151127216	G	C	151127216	3	2	81	1	0	0	0	0	1	0	0	0	3918	942	33	5	85	5	CRYGN	7	151127216	Missense_Mutation	SNP	G	TCGA-EJ-7218-01B-11D-A32B-08	50448731	151127216	8011447	19	4219											
LZTS1	11178	broad.mit.edu	37	chr8	20110914	20110914	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ggcaggctggacatggagttCcggccggagtctgacagcgc	7	6	17	11	3	1	1	0	1	1	0	2	4	2	4	2	6	1	3	2	6	0	1			TCGA-EJ-7218-01B-11D-A32B-08	TCGA-EJ-7218-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45c03982-3401-4737-b89c-b3a16aa6a7f4	1d53564b-d57c-4616-8950-9277fe4e08e5	g.chr8:20110914C>T	ENST00000381569.1	-	3	885	c.528G>A	c.(526-528)cgG>cgA	p.R176R	LZTS1_ENST00000522290.1_Silent_p.R176R|LZTS1_ENST00000265801.6_Silent_p.R176R			Q9Y250	LZTS1_HUMAN	leucine zipper, putative tumor suppressor 1	176					cell cycle (GO:0007049)|gene expression (GO:0010467)|innate immune response (GO:0045087)|negative regulation of macroautophagy (GO:0016242)|positive regulation of type I interferon production (GO:0032481)|regulation of dendrite morphogenesis (GO:0048814)|regulation of transcription, DNA-templated (GO:0006355)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)	apical plasma membrane (GO:0016324)|cell body (GO:0044297)|cell junction (GO:0030054)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|nucleoplasm (GO:0005654)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(16)|ovary(2)|skin(1)|urinary_tract(1)	29				Colorectal(74;0.0511)|COAD - Colon adenocarcinoma(73;0.207)		ACATGGAGTTCCGGCCGGAGT	0.672																																						ENST00000381569.1																			0				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(16)|ovary(2)|skin(1)|urinary_tract(1)	29						c.(526-528)cgG>cgA		leucine zipper, putative tumor suppressor 1							44	49	47					8																	20110914		2203	4300	6503	SO:0001819	synonymous_variant	11178				cell cycle|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	cell junction|dendritic spine|Golgi apparatus|nucleolus|nucleoplasm|postsynaptic density|postsynaptic membrane	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr8:20110914C>T	AF123659	CCDS6015.1	8p22	2012-10-05			ENSG00000061337	ENSG00000061337			13861	protein-coding gene	gene with protein product		606551	"F37/Esophageal cancer-related gene-coding leucine-zipper motif"			10097140, 17349584	Standard	NM_021020		Approved	FEZ1	uc003wzr.3	Q9Y250	OTTHUMG00000097027	ENST00000381569.1:c.528G>A	8.37:g.20110914C>T						LZTS1_ENST00000522290.1_Silent_p.R176R|LZTS1_ENST00000265801.6_Silent_p.R176R	p.R176R			Q9Y250	LZTS1_HUMAN		Colorectal(74;0.0511)|COAD - Colon adenocarcinoma(73;0.207)	3	885	-			176					D3DSQ6|Q9Y5V7|Q9Y5V8|Q9Y5V9|Q9Y5W0|Q9Y5W1|Q9Y5W2	Silent	SNP	ENST00000381569.1	37	c.528G>A	CCDS6015.1																																																																																				0.672	LZTS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214122.1	NM_021020		4	24	0	0	0	1	0	4	24					T	20110914	C	T	20110914	2	4	81	1	0	0	0	0	0	0	0	1	9138	842	30	3		3	LZTS1	8	20110914	Silent	SNP	C	TCGA-EJ-7218-01B-11D-A32B-08		20110914	126253108	20	4220											
LINGO2	158038	broad.mit.edu	37	chr9	27950458	27950458	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaattcttcagggttgacgCtttttagcctgtttttactg	6	19	9	7	1	2	2	1	2	1	0	2	2	2	2	1	1	2	3	1	1	3	9	rs376001180		TCGA-EJ-7218-01B-11D-A32B-08	TCGA-EJ-7218-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45c03982-3401-4737-b89c-b3a16aa6a7f4	1d53564b-d57c-4616-8950-9277fe4e08e5	g.chr9:27950458C>A	ENST00000379992.2	-	6	661	c.212G>T	c.(211-213)aGc>aTc	p.S71I	LINGO2_ENST00000308675.3_Missense_Mutation_p.S71I	NM_152570.2	NP_689783.1	Q7L985	LIGO2_HUMAN	leucine rich repeat and Ig domain containing 2	71						integral component of membrane (GO:0016021)		p.S71N(2)		autonomic_ganglia(1)|breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	44	Melanoma(11;0.242)	all_neural(11;2.78e-09)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0818)|GBM - Glioblastoma multiforme(2;1.31e-34)|all cancers(2;2.37e-25)|Lung(2;7.48e-08)|LUSC - Lung squamous cell carcinoma(38;5.09e-07)|KIRC - Kidney renal clear cell carcinoma(2;0.0465)|Kidney(2;0.0604)		AGGGTTGACGCTTTTTAGCCT	0.438																																						ENST00000379992.2																			2	Substitution - Missense(2)	p.S71N(2)	lung(2)	autonomic_ganglia(1)|breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	44						c.(211-213)aGc>aTc		leucine rich repeat and Ig domain containing 2							223	227	225					9																	27950458		2203	4300	6503	SO:0001583	missense	158038					integral to membrane		g.chr9:27950458C>A	AL353746	CCDS6524.1	9p21.2	2013-01-11	2007-02-01	2007-02-01	ENSG00000174482	ENSG00000174482		"Immunoglobulin superfamily / I-set domain containing"	21207	protein-coding gene	gene with protein product		609793	"leucine rich repeat neuronal 6C"	LRRN6C		14686891	Standard	NM_152570		Approved	LERN3	uc003zqu.2	Q7L985	OTTHUMG00000019721	ENST00000379992.2:c.212G>T	9.37:g.27950458C>A	ENSP00000369328:p.Ser71Ile					LINGO2_ENST00000308675.3_Missense_Mutation_p.S71I	p.S71I	NM_152570.2	NP_689783.1	Q7L985	LIGO2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (5;0.0818)|GBM - Glioblastoma multiforme(2;1.31e-34)|all cancers(2;2.37e-25)|Lung(2;7.48e-08)|LUSC - Lung squamous cell carcinoma(38;5.09e-07)|KIRC - Kidney renal clear cell carcinoma(2;0.0465)|Kidney(2;0.0604)	6	661	-	Melanoma(11;0.242)	all_neural(11;2.78e-09)	71					A8K4K7|B2RPM5|Q6ZMD0	Missense_Mutation	SNP	ENST00000379992.2	37	c.212G>T	CCDS6524.1	.	.	.	.	.	.	.	.	.	.	C	12.88	2.070626	0.36566	.	.	ENSG00000174482	ENST00000379992;ENST00000308675	T;T	0.80393	-1.37;-1.37	5.74	5.74	0.90152	.	0.082273	0.85682	D	0.000000	T	0.76856	0.4046	L	0.52823	1.66	0.40149	D	0.976922	B	0.06786	0.001	B	0.16722	0.016	T	0.70139	-0.4954	9	.	.	.	.	15.3891	0.74729	0.0:0.9316:0.0:0.0684	.	71	Q7L985	LIGO2_HUMAN	I	71	ENSP00000369328:S71I;ENSP00000310126:S71I	.	S	-	2	0	LINGO2	27940458	0.960000	0.32886	0.773000	0.31616	0.930000	0.56654	2.924000	0.48876	2.873000	0.98535	0.561000	0.74099	AGC		0.438	LINGO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051978.2	NM_152570		18	171	1	0	3.99206e-14	1	4.61304e-14	18	171					A	27950458	C	A	27950458	3	1	81	1	0	0	0	0	1	0	0	0	8815	797	28	5	1612	5	LINGO2	9	27950458	Missense_Mutation	SNP	C	TCGA-EJ-7218-01B-11D-A32B-08		27950458	113262973	21	4221											
COL17A1	1308	broad.mit.edu	37	chr10	105801073	105801073	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gctctcacctggtgggcctcGgggtcctggtgggcctggaa	3	9	17	12	1	1	0	1	0	1	0	4	1	2	1	4	7	0	1	4	7	1	0			TCGA-EJ-7218-01B-11D-A32B-08	TCGA-EJ-7218-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45c03982-3401-4737-b89c-b3a16aa6a7f4	1d53564b-d57c-4616-8950-9277fe4e08e5	g.chr10:105801073G>A	ENST00000353479.5	-	38	2925	c.2635C>T	c.(2635-2637)Cga>Tga	p.R879*	COL17A1_ENST00000369733.3_Nonsense_Mutation_p.R879*	NM_000494.3	NP_000485.3	Q9UMD9	COHA1_HUMAN	collagen, type XVII, alpha 1	879	Triple-helical region.				cell junction assembly (GO:0034329)|cell-matrix adhesion (GO:0007160)|collagen catabolic process (GO:0030574)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|hemidesmosome (GO:0030056)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				NS(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|liver(1)|lung(22)|ovary(5)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	62		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		GGTGGGCCTCGGGGTCCTGGT	0.647																																						ENST00000353479.5																			0				NS(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|liver(1)|lung(22)|ovary(5)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	62						c.(2635-2637)Cga>Tga		collagen, type XVII, alpha 1							60	62	61					10																	105801073		2203	4300	6503	SO:0001587	stop_gained	1308				cell-matrix adhesion|epidermis development|hemidesmosome assembly	basement membrane|cell-cell junction|collagen|hemidesmosome|integral to plasma membrane	protein binding	g.chr10:105801073G>A	M91669	CCDS7554.1	10q24.3	2013-01-16			ENSG00000065618	ENSG00000065618		"Collagens"	2194	protein-coding gene	gene with protein product		113811		BPAG2		7916703	Standard	NM_000494		Approved	BP180	uc001kxr.3	Q9UMD9	OTTHUMG00000018998	ENST00000353479.5:c.2635C>T	10.37:g.105801073G>A	ENSP00000340937:p.Arg879*					COL17A1_ENST00000369733.3_Nonsense_Mutation_p.R879*	p.R879*	NM_000494.3	NP_000485.3	Q9UMD9	COHA1_HUMAN		Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)	38	2925	-		Colorectal(252;0.103)|Breast(234;0.122)	879			Triple-helical region.		Q02802|Q5JV36|Q99018|Q9NQK9|Q9UC14	Nonsense_Mutation	SNP	ENST00000353479.5	37	c.2635C>T	CCDS7554.1	.	.	.	.	.	.	.	.	.	.	G	39	7.898720	0.98551	.	.	ENSG00000065618	ENST00000353479;ENST00000369733	.	.	.	4.68	2.76	0.32466	.	0.442793	0.16183	N	0.225756	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.08837	T	0.75	-1.1637	5.5807	0.17248	0.102:0.0:0.6962:0.2018	.	.	.	.	X	879	.	ENSP00000340937:R879X	R	-	1	2	COL17A1	105791063	1.000000	0.71417	1.000000	0.80357	0.331000	0.28603	2.043000	0.41231	0.566000	0.29273	0.383000	0.25322	CGA		0.647	COL17A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050181.1	NM_130778, NM_000494		15	34	0	0	0	1	0	15	34					A	105801073	G	A	105801073	4	1	81	1	0	0	0	0	0	1	0	0	3674	1124	39	2	1934	2	COL17A1	10	105801073	Nonsense_Mutation	SNP	G	TCGA-EJ-7218-01B-11D-A32B-08		105801073	29733674	22	4222											
OR5D18	219438	broad.mit.edu	37	chr11	55587196	55587196	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tgcaagtcccactcttcctgGtttttctggccatctacaat	7	15	6	13	0	3	0	0	0	3	0	5	0	5	0	3	2	2	2	3	2	3	4	rs377604728		TCGA-EJ-7218-01B-11D-A32B-08	TCGA-EJ-7218-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45c03982-3401-4737-b89c-b3a16aa6a7f4	1d53564b-d57c-4616-8950-9277fe4e08e5	g.chr11:55587196G>T	ENST00000333976.4	+	1	111	c.91G>T	c.(91-93)Gtt>Ttt	p.V31F		NM_001001952.1	NP_001001952.1	Q8NGL1	OR5DI_HUMAN	olfactory receptor, family 5, subfamily D, member 18	31						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V31F(1)		NS(2)|breast(1)|endometrium(3)|large_intestine(6)|lung(33)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		all_epithelial(135;0.208)				ACTCTTCCTGGTTTTTCTGGC	0.458																																						ENST00000333976.4																			1	Substitution - Missense(1)	p.V31F(1)	lung(1)	NS(2)|breast(1)|endometrium(3)|large_intestine(6)|lung(33)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						c.(91-93)Gtt>Ttt		olfactory receptor, family 5, subfamily D, member 18		G	PHE/VAL	1,4399		0,1,2199	142	133	136		91	-7.3	0	11		136	0,8592		0,0,4296	no	missense	OR5D18	NM_001001952.1	50	0,1,6495	TT,TG,GG		0.0,0.0227,0.0077	benign	31/314	55587196	1,12991	2200	4296	6496	SO:0001583	missense	219438				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55587196G>T	AB065781	CCDS31510.1	11q11	2012-08-09			ENSG00000186119	ENSG00000186119		"GPCR / Class A : Olfactory receptors"	15285	protein-coding gene	gene with protein product							Standard	NM_001001952		Approved		uc010rin.2	Q8NGL1	OTTHUMG00000166811	ENST00000333976.4:c.91G>T	11.37:g.55587196G>T	ENSP00000335025:p.Val31Phe						p.V31F	NM_001001952.1	NP_001001952.1	Q8NGL1	OR5DI_HUMAN			1	111	+		all_epithelial(135;0.208)	31					Q6IF67|Q6IFD3|Q96RB3	Missense_Mutation	SNP	ENST00000333976.4	37	c.91G>T	CCDS31510.1	.	.	.	.	.	.	.	.	.	.	.	14.71	2.616657	0.46736	2.27E-4	0.0	ENSG00000186119	ENST00000333976	T	0.03065	4.06	5.18	-7.34	0.01427	.	1.291300	0.05727	N	0.598924	T	0.04724	0.0128	L	0.46567	1.45	0.09310	N	1	B	0.12630	0.006	B	0.22601	0.04	T	0.45469	-0.9259	10	0.59425	D	0.04	0.0651	12.5148	0.56026	0.2014:0.1117:0.6869:0.0	.	31	Q8NGL1	OR5DI_HUMAN	F	31	ENSP00000335025:V31F	ENSP00000335025:V31F	V	+	1	0	OR5D18	55343772	0.000000	0.05858	0.001000	0.08648	0.882000	0.50991	-3.933000	0.00331	-0.957000	0.03627	-0.375000	0.07067	GTT		0.458	OR5D18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391515.1	NM_001001952		4	79	1	0	0.184627	1	0.188247	4	79					T	55587196	G	T	55587196	3	4	81	1	0	0	0	0	1	0	0	0	11157	1261	44	5	93	5	OR5D18	11	55587196	Missense_Mutation	SNP	G	TCGA-EJ-7218-01B-11D-A32B-08		55587196	79419320	23	4223											
LTBP3	4054	broad.mit.edu	37	chr11	65314313	65314313	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgcggtagccaggctgacagGcgatgcacttgaagctcccg	8	7	14	12	3	0	2	0	2	0	0	1	3	1	2	2	3	4	4	2	3	2	2			TCGA-EJ-7218-01B-11D-A32B-08	TCGA-EJ-7218-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45c03982-3401-4737-b89c-b3a16aa6a7f4	1d53564b-d57c-4616-8950-9277fe4e08e5	g.chr11:65314313G>T	ENST00000301873.5	-	15	2454	c.2186C>A	c.(2185-2187)gCc>gAc	p.A729D	LTBP3_ENST00000536982.1_Missense_Mutation_p.A355D|LTBP3_ENST00000322147.4_Missense_Mutation_p.A729D|LTBP3_ENST00000530785.1_5'Flank|LTBP3_ENST00000532932.1_Missense_Mutation_p.A159D|LTBP3_ENST00000529189.1_5'Flank	NM_001130144.2	NP_001123616.1	Q9NS15	LTBP3_HUMAN	latent transforming growth factor beta binding protein 3	729	Cys-rich.				bone morphogenesis (GO:0060349)|bone remodeling (GO:0046849)|extracellular matrix organization (GO:0030198)|lung saccule development (GO:0060430)|negative regulation of bone mineralization (GO:0030502)|negative regulation of chondrocyte differentiation (GO:0032331)|positive regulation of bone resorption (GO:0045780)|positive regulation of mesenchymal stem cell differentiation (GO:2000741)|positive regulation of mesenchymal stem cell proliferation (GO:1902462)|transforming growth factor beta activation (GO:0036363)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|transforming growth factor beta binding (GO:0050431)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|prostate(2)|upper_aerodigestive_tract(3)	23						AGGCTGACAGGCGATGCACTT	0.692																																						ENST00000301873.5																			0				breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|prostate(2)|upper_aerodigestive_tract(3)	23						c.(2185-2187)gCc>gAc		latent transforming growth factor beta binding protein 3							46	51	49					11																	65314313		2201	4297	6498	SO:0001583	missense	4054					extracellular region	calcium ion binding|growth factor binding	g.chr11:65314313G>T	AF135960	CCDS8103.1, CCDS44647.1	11q12	2011-10-20			ENSG00000168056	ENSG00000168056		"Latent transforming growth factor, beta binding proteins"	6716	protein-coding gene	gene with protein product		602090		LTBP2		7719025	Standard	NM_001164266		Approved		uc001oej.3	Q9NS15	OTTHUMG00000166575	ENST00000301873.5:c.2186C>A	11.37:g.65314313G>T	ENSP00000301873:p.Ala729Asp					LTBP3_ENST00000322147.4_Missense_Mutation_p.A729D|LTBP3_ENST00000532932.1_Missense_Mutation_p.A159D|LTBP3_ENST00000536982.1_Missense_Mutation_p.A355D	p.A729D	NM_001130144.2	NP_001123616.1	Q9NS15	LTBP3_HUMAN			15	2454	-			729			Cys-rich.		O15107|Q96HB9|Q9H7K2|Q9UFN4	Missense_Mutation	SNP	ENST00000301873.5	37	c.2186C>A	CCDS44647.1	.	.	.	.	.	.	.	.	.	.	G	15.48	2.844944	0.51164	.	.	ENSG00000168056	ENST00000322147;ENST00000301873;ENST00000532932;ENST00000536982;ENST00000530866;ENST00000527339	T;T;T;T;T;T	0.21191	2.02;2.02;2.02;2.02;2.02;2.02	4.61	4.61	0.57282	EGF-like calcium-binding (2);	0.426701	0.25302	N	0.031657	T	0.14527	0.0351	N	0.13352	0.335	0.21445	N	0.999688	P;P;B;B;B;B	0.39665	0.571;0.682;0.076;0.213;0.178;0.004	B;B;B;B;B;B	0.43018	0.405;0.204;0.16;0.171;0.107;0.012	T	0.16276	-1.0408	10	0.12430	T	0.62	.	13.335	0.60512	0.0:0.0:1.0:0.0	.	640;355;612;729;729;159	E9PKW1;F5GWC4;B9EG76;Q9NS15;Q9NS15-2;E9PJR2	.;.;.;LTBP3_HUMAN;.;.	D	729;729;159;355;640;69	ENSP00000326647:A729D;ENSP00000301873:A729D;ENSP00000435530:A159D;ENSP00000441912:A355D;ENSP00000435276:A640D;ENSP00000432121:A69D	ENSP00000301873:A729D	A	-	2	0	LTBP3	65070889	0.983000	0.35010	0.942000	0.38095	0.718000	0.41266	1.682000	0.37628	2.288000	0.76882	0.449000	0.29647	GCC		0.692	LTBP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390538.1	NM_021070		15	44	1	0	6.31663e-08	1	7.14053e-08	15	44					T	65314313	G	T	65314313	3	4	81	1	0	0	0	0	1	0	0	0	9075	1203	42	5	1781	5	LTBP3	11	65314313	Missense_Mutation	SNP	G	TCGA-EJ-7218-01B-11D-A32B-08	9727117	65314313	69692203	24	4224											
RSF1	51773	broad.mit.edu	37	chr11	77412339	77412339	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctctggcattctaccacttcTttttctgaggctagtttctc	5	18	6	12	0	5	1	0	1	5	0	6	1	5	1	1	2	1	3	1	2	2	7			TCGA-EJ-7218-01B-11D-A32B-08	TCGA-EJ-7218-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45c03982-3401-4737-b89c-b3a16aa6a7f4	1d53564b-d57c-4616-8950-9277fe4e08e5	g.chr11:77412339T>G	ENST00000308488.6	-	6	2237	c.1935A>C	c.(1933-1935)aaA>aaC	p.K645N	RSF1_ENST00000360355.2_Missense_Mutation_p.K614N|RSF1_ENST00000480887.1_Missense_Mutation_p.K393N			Q96T23	RSF1_HUMAN	remodeling and spacing factor 1	645					CENP-A containing nucleosome assembly (GO:0034080)|chromatin remodeling (GO:0006338)|DNA-templated transcription, initiation (GO:0006352)|negative regulation of DNA binding (GO:0043392)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|nucleosome positioning (GO:0016584)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of viral transcription (GO:0050434)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|RSF complex (GO:0031213)	histone binding (GO:0042393)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(9)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	43	all_cancers(14;1.54e-17)|all_epithelial(13;4.06e-20)|Ovarian(111;0.152)		Epithelial(5;3e-50)|all cancers(3;6.37e-47)|BRCA - Breast invasive adenocarcinoma(5;9.82e-31)			CTACCACTTCTTTTTCTGAGG	0.438																																						ENST00000308488.6																			0				breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(9)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	43						c.(1933-1935)aaA>aaC		remodeling and spacing factor 1							130	134	133					11																	77412339		2198	4289	6487	SO:0001583	missense	51773				CenH3-containing nucleosome assembly at centromere|negative regulation of DNA binding|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|positive regulation of viral transcription|transcription initiation, DNA-dependent	RSF complex	histone binding|protein binding|zinc ion binding	g.chr11:77412339T>G	AF380176, AF227948	CCDS8253.1	11q14.1	2013-01-28	2006-05-25	2006-05-25	ENSG00000048649	ENSG00000048649		"Zinc fingers, PHD-type"	18118	protein-coding gene	gene with protein product		608522	"hepatitis B virus x associated protein"	HBXAP		11788598, 12972596	Standard	NM_016578		Approved	XAP8, RSF-1, p325	uc001oyn.3	Q96T23	OTTHUMG00000150433	ENST00000308488.6:c.1935A>C	11.37:g.77412339T>G	ENSP00000311513:p.Lys645Asn					RSF1_ENST00000360355.2_Missense_Mutation_p.K614N|RSF1_ENST00000480887.1_Missense_Mutation_p.K393N	p.K645N			Q96T23	RSF1_HUMAN	Epithelial(5;3e-50)|all cancers(3;6.37e-47)|BRCA - Breast invasive adenocarcinoma(5;9.82e-31)		6	2237	-	all_cancers(14;1.54e-17)|all_epithelial(13;4.06e-20)|Ovarian(111;0.152)		645					Q86X86|Q9H3L8|Q9NVZ8|Q9NYU0	Missense_Mutation	SNP	ENST00000308488.6	37	c.1935A>C	CCDS8253.1	.	.	.	.	.	.	.	.	.	.	T	5.935	0.356507	0.11239	.	.	ENSG00000048649	ENST00000308488;ENST00000480887;ENST00000360355;ENST00000526324;ENST00000528095	D;D;D;D;T	0.90620	-2.26;-2.53;-2.26;-2.7;1.11	5.11	-5.1	0.02911	.	0.343078	0.25060	N	0.033445	T	0.80082	0.4558	L	0.32530	0.975	0.27329	N	0.956823	B	0.02656	0.0	B	0.06405	0.002	T	0.65071	-0.6257	10	0.54805	T	0.06	-8.4295	6.275	0.20975	0.22:0.4069:0.0:0.3731	.	645	Q96T23	RSF1_HUMAN	N	645;393;614;446;644	ENSP00000311513:K645N;ENSP00000434509:K393N;ENSP00000353511:K614N;ENSP00000432022:K446N;ENSP00000436408:K644N	ENSP00000311513:K645N	K	-	3	2	RSF1	77089987	0.202000	0.23423	0.029000	0.17559	0.351000	0.29236	-0.394000	0.07296	-0.840000	0.04206	-0.250000	0.11733	AAA		0.438	RSF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318075.2	NM_016578		18	179	0	0	0	1	0	18	179					G	77412339	T	G	77412339	3	3	81	1	0	0	0	0	1	0	0	0	13699	1606	56	5	2434	5	RSF1	11	77412339	Missense_Mutation	SNP	T	TCGA-EJ-7218-01B-11D-A32B-08	12098026	77412339	57594177	25	4225											
CCDC15	80071	broad.mit.edu	37	chr11	124857123	124857123	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tattctgccagaagcccaggAttattttctagaagcccaag	12	11	8	10	0	2	2	0	0	2	2	2	3	2	3	3	1	3	0	3	1	6	6			TCGA-EJ-7218-01B-11D-A32B-08	TCGA-EJ-7218-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45c03982-3401-4737-b89c-b3a16aa6a7f4	1d53564b-d57c-4616-8950-9277fe4e08e5	g.chr11:124857123A>G	ENST00000344762.5	+	8	1260	c.1001A>G	c.(1000-1002)gAt>gGt	p.D334G	CCDC15_ENST00000529051.1_Missense_Mutation_p.D334G	NM_025004.2	NP_079280.2	Q0P6D6	CCD15_HUMAN	coiled-coil domain containing 15	334						centrosome (GO:0005813)				central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(1)	23	all_hematologic(175;0.215)	Breast(109;0.00222)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.68e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0413)		GAAGCCCAGGATTATTTTCTA	0.408																																						ENST00000529051.1																			0				central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(1)	23						c.(1000-1002)gAt>gGt		coiled-coil domain containing 15							97	91	93					11																	124857123		1801	4077	5878	SO:0001583	missense	80071					centrosome		g.chr11:124857123A>G	BC018540	CCDS44756.1	11q24.2	2008-02-05			ENSG00000149548	ENSG00000149548			25798	protein-coding gene	gene with protein product							Standard	NM_025004		Approved	FLJ13215	uc001qbm.4	Q0P6D6	OTTHUMG00000165940	ENST00000344762.5:c.1001A>G	11.37:g.124857123A>G	ENSP00000341684:p.Asp334Gly					CCDC15_ENST00000344762.5_Missense_Mutation_p.D334G	p.D334G			Q0P6D6	CCD15_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.68e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0413)	8	1260	+	all_hematologic(175;0.215)	Breast(109;0.00222)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	334					Q9H8U7	Missense_Mutation	SNP	ENST00000344762.5	37	c.1001A>G	CCDS44756.1	.	.	.	.	.	.	.	.	.	.	A	12.88	2.069282	0.36470	.	.	ENSG00000149548	ENST00000529051;ENST00000344762	T;T	0.39787	1.12;1.06	3.87	1.39	0.22231	.	1.308790	0.04641	N	0.405393	T	0.38321	0.1036	L	0.40543	1.245	0.26591	N	0.973209	D	0.56035	0.974	P	0.45856	0.495	T	0.25779	-1.0122	10	0.46703	T	0.11	-6.4733	5.5221	0.16938	0.7279:0.1738:0.0983:0.0	.	334	Q0P6D6	CCD15_HUMAN	G	334	ENSP00000435403:D334G;ENSP00000341684:D334G	ENSP00000341684:D334G	D	+	2	0	CCDC15	124362333	0.953000	0.32496	0.702000	0.30337	0.070000	0.16714	1.519000	0.35888	0.277000	0.22141	0.379000	0.24179	GAT		0.408	CCDC15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387131.1	NM_025004		8	60	0	0	0	1	0	8	60					G	124857123	A	G	124857123	3	3	81	1	0	0	0	0	1	0	0	0	2784	333	12	4	1027	4	CCDC15	11	124857123	Missense_Mutation	SNP	A	TCGA-EJ-7218-01B-11D-A32B-08	47444784	124857123	10149393	26	4226											
SFRS8	6433	broad.mit.edu	37	chr12	132209998	132209998	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgagcgcacggccagcttcGtgtgcaggcagggagcacag	8	5	16	12	4	0	0	0	0	0	0	2	2	0	1	1	3	4	5	1	3	0	1			TCGA-EJ-7218-01B-11D-A32B-08	TCGA-EJ-7218-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45c03982-3401-4737-b89c-b3a16aa6a7f4	1d53564b-d57c-4616-8950-9277fe4e08e5	g.chr12:132209998G>A	ENST00000261674.4	+	5	796	c.655G>A	c.(655-657)Gtg>Atg	p.V219M	SFSWAP_ENST00000541286.1_Missense_Mutation_p.V219M	NM_004592.3	NP_004583.2	Q12872	SFSWA_HUMAN	splicing factor, suppressor of white-apricot family	219					mRNA processing (GO:0006397)|mRNA splice site selection (GO:0006376)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	RNA binding (GO:0003723)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(8)|ovary(1)|skin(2)	25						GGCCAGCTTCGTGTGCAGGCA	0.557																																						ENST00000261674.4																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(8)|ovary(1)|skin(2)	25						c.(655-657)Gtg>Atg		splicing factor, suppressor of white-apricot homolog (Drosophila)							129	96	107					12																	132209998		2203	4300	6503	SO:0001583	missense	6433				mRNA splice site selection|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding|RNA binding	g.chr12:132209998G>A	U08377	CCDS9273.1, CCDS58290.1	12q24.33	2014-04-14	2014-04-14	2010-09-15	ENSG00000061936	ENSG00000061936			10790	protein-coding gene	gene with protein product		601945	"splicing factor, arginine/serine-rich 8 (suppressor-of-white-apricot, Drosophila homolog)", "splicing factor, arginine/serine-rich 8 (suppressor-of-white-apricot homolog, Drosophila)", "splicing factor, suppressor of white-apricot homolog (Drosophila)"	SFRS8		8940107	Standard	NM_004592		Approved	SWAP	uc010tbn.2	Q12872	OTTHUMG00000168319	ENST00000261674.4:c.655G>A	12.37:g.132209998G>A	ENSP00000261674:p.Val219Met					SFSWAP_ENST00000541286.1_Missense_Mutation_p.V219M	p.V219M	NM_004592.3	NP_004583.2	Q12872	SFSWA_HUMAN			5	796	+			219					B2RN45|B7ZM97|F5H6B8|Q6PJF7	Missense_Mutation	SNP	ENST00000261674.4	37	c.655G>A	CCDS9273.1	.	.	.	.	.	.	.	.	.	.	G	25.4	4.637881	0.87760	.	.	ENSG00000061936	ENST00000261674;ENST00000544623;ENST00000535236;ENST00000541286	T;T;T	0.64618	-0.11;-0.11;-0.11	5.83	4.94	0.65067	SWAP/Surp (3);	0.000000	0.85682	D	0.000000	D	0.82518	0.5054	M	0.89414	3.03	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.80764	0.993;0.994;0.964	D	0.86677	0.1914	10	0.87932	D	0	-32.118	17.0151	0.86416	0.0:0.1273:0.8726:0.0	.	219;219;156	F5H6B8;Q12872;F5H525	.;SFSWA_HUMAN;.	M	219;156;12;219	ENSP00000261674:V219M;ENSP00000443045:V12M;ENSP00000437738:V219M	ENSP00000261674:V219M	V	+	1	0	SFSWAP	130775951	1.000000	0.71417	0.998000	0.56505	0.976000	0.68499	9.714000	0.98744	1.462000	0.47948	0.563000	0.77884	GTG		0.557	SFSWAP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399276.1	NM_004592		10	48	0	0	0	1	0	10	48					A	132209998	G	A	132209998	3	1	81	1	0	0	0	0	1	0	0	0	14183	1145	40	1	673	1	SFRS8	12	132209998	Missense_Mutation	SNP	G	TCGA-EJ-7218-01B-11D-A32B-08		132209998	1641897	27	4227											
ERI2	112479	broad.mit.edu	37	chr16	20811285	20811285	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	taatgtatactaaccagaatGttctcgtcctgagaattcta	13	14	6	8	1	2	2	0	1	2	2	4	3	3	2	2	0	2	2	2	0	7	7			TCGA-EJ-7218-01B-11D-A32B-08	TCGA-EJ-7218-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45c03982-3401-4737-b89c-b3a16aa6a7f4	1d53564b-d57c-4616-8950-9277fe4e08e5	g.chr16:20811285G>A	ENST00000357967.4	-	7	679	c.637C>T	c.(637-639)Cat>Tat	p.H213Y	ERI2_ENST00000569729.1_Missense_Mutation_p.H213Y|ERI2_ENST00000563117.1_Missense_Mutation_p.H120Y|ERI2_ENST00000564349.1_Missense_Mutation_p.H120Y|ERI2_ENST00000300005.3_Missense_Mutation_p.H213Y|ERI2_ENST00000389345.5_5'UTR	NM_001142725.1	NP_001136197.1	A8K979	ERI2_HUMAN	ERI1 exoribonuclease family member 2	213	Exonuclease.						exonuclease activity (GO:0004527)|nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|large_intestine(5)|lung(2)|prostate(2)	11						TAACCAGAATGTTCTCGTCCT	0.294																																						ENST00000564349.1																			0				endometrium(1)|kidney(1)|large_intestine(5)|lung(2)|prostate(2)	11						c.(358-360)Cat>Tat		ERI1 exoribonuclease family member 2							47	50	49					16																	20811285		2201	4293	6494	SO:0001583	missense	112479					intracellular	exonuclease activity|nucleic acid binding|zinc ion binding	g.chr16:20811285G>A	BC010503	CCDS10590.1, CCDS45436.1	16p12.3	2014-02-18	2009-10-07	2008-12-16	ENSG00000196678	ENSG00000196678		"Enhanced RNAi three prime mRNA exonucleases"	30541	protein-coding gene	gene with protein product	"enhanced RNAi three prime mRNA exonuclease homolog 2 (C.elegans)", "exoribonuclease 2", "zinc finger, GRF-type containing 5"		"exonuclease domain containing 1"	EXOD1		10819331	Standard	NM_080663		Approved	KIAA1504, MGC16943, ZGRF5	uc010vbb.1	A8K979	OTTHUMG00000131557	ENST00000357967.4:c.637C>T	16.37:g.20811285G>A	ENSP00000350651:p.His213Tyr					ERI2_ENST00000389345.5_5'UTR|ERI2_ENST00000300005.3_Missense_Mutation_p.H213Y|ERI2_ENST00000357967.4_Missense_Mutation_p.H213Y|ERI2_ENST00000569729.1_Missense_Mutation_p.H213Y|ERI2_ENST00000563117.1_Missense_Mutation_p.H120Y	p.H120Y			A8K979	ERI2_HUMAN			8	833	-			213			Exonuclease.		Q6ZSJ2|Q96FR9|Q9P224|Q9Y6V3	Missense_Mutation	SNP	ENST00000357967.4	37	c.358C>T	CCDS45436.1	.	.	.	.	.	.	.	.	.	.	G	24.8	4.575630	0.86645	.	.	ENSG00000196678	ENST00000300005;ENST00000357967	D;D	0.94497	-3.44;-3.44	5.94	5.94	0.96194	Exonuclease (1);Exonuclease, RNase T/DNA polymerase III (1);Ribonuclease H-like (1);	0.000000	0.85682	D	0.000000	D	0.98018	0.9347	M	0.91818	3.245	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.998	D	0.98185	1.0459	10	0.72032	D	0.01	-16.3897	20.3658	0.98878	0.0:0.0:1.0:0.0	.	213;213;213	A8K979;A8K979-3;A8K979-4	ERI2_HUMAN;.;.	Y	213	ENSP00000300005:H213Y;ENSP00000350651:H213Y	ENSP00000300005:H213Y	H	-	1	0	ERI2	20718786	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.812000	0.91959	2.820000	0.97059	0.650000	0.86243	CAT		0.294	ERI2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_080663		4	43	0	0	0	1	0	4	43					A	20811285	G	A	20811285	3	1	81	1	0	0	0	0	1	0	0	0	5228	1377	48	3	1717	3	ERI2	16	20811285	Missense_Mutation	SNP	G	TCGA-EJ-7218-01B-11D-A32B-08		20811285	69543468	28	4228											
HOXB13	10481	broad.mit.edu	37	chr17	46805519	46805519	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagagtctgcaccacagacAcgtccaggtaactggccata	12	6	9	14	1	1	2	0	0	1	2	2	2	2	2	4	2	2	2	4	2	2	2			TCGA-EJ-7218-01B-11D-A32B-08	TCGA-EJ-7218-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45c03982-3401-4737-b89c-b3a16aa6a7f4	1d53564b-d57c-4616-8950-9277fe4e08e5	g.chr17:46805519A>G	ENST00000290295.7	-	1	1021	c.437T>C	c.(436-438)gTg>gCg	p.V146A	PRAC2_ENST00000422730.2_RNA	NM_006361.5	NP_006352.2	Q92826	HXB13_HUMAN	homeobox B13	146					angiogenesis (GO:0001525)|epidermis development (GO:0008544)|epithelial cell maturation involved in prostate gland development (GO:0060743)|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis (GO:0060527)|regulation of growth (GO:0040008)|regulation of transcription, DNA-templated (GO:0006355)|response to testosterone (GO:0033574)|response to wounding (GO:0009611)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	sequence-specific DNA binding (GO:0043565)			endometrium(2)|kidney(2)|lung(6)|prostate(1)	11						CACCACAGACACGTCCAGGTA	0.607																																						ENST00000290295.7																			0				endometrium(2)|kidney(2)|lung(6)|prostate(1)	11						c.(436-438)gTg>gCg		homeobox B13							93	95	94					17																	46805519		2203	4300	6503	SO:0001583	missense	10481				angiogenesis|epidermis development|response to wounding		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr17:46805519A>G	U57052	CCDS11536.1	17q21.32	2014-09-17	2005-12-22		ENSG00000159184	ENSG00000159184		"Homeoboxes / ANTP class : HOXL subclass"	5112	protein-coding gene	gene with protein product		604607	"homeo box B13"			8756292, 9665387	Standard	NM_006361		Approved		uc002ioa.3	Q92826	OTTHUMG00000159900	ENST00000290295.7:c.437T>C	17.37:g.46805519A>G	ENSP00000290295:p.Val146Ala						p.V146A	NM_006361.5	NP_006352.2	Q92826	HXB13_HUMAN			1	1021	-			146					B2R878|Q96QM4|Q99810	Missense_Mutation	SNP	ENST00000290295.7	37	c.437T>C	CCDS11536.1	.	.	.	.	.	.	.	.	.	.	A	19.25	3.791733	0.70452	.	.	ENSG00000159184	ENST00000290295	D	0.91996	-2.95	4.69	4.69	0.59074	.	0.000000	0.85682	D	0.000000	D	0.92928	0.7750	M	0.68952	2.095	0.58432	D	0.999994	D	0.55605	0.972	P	0.51615	0.675	D	0.93033	0.6450	10	0.52906	T	0.07	.	13.1333	0.59395	1.0:0.0:0.0:0.0	.	146	Q92826	HXB13_HUMAN	A	146	ENSP00000290295:V146A	ENSP00000290295:V146A	V	-	2	0	HOXB13	44160518	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	8.709000	0.91379	1.974000	0.57490	0.379000	0.24179	GTG		0.607	HOXB13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358087.3	NM_006361		16	70	0	0	0	1	0	16	70					G	46805519	A	G	46805519	3	3	81	1	0	0	0	0	1	0	0	0	7300	159	6	4	425	4	HOXB13	17	46805519	Missense_Mutation	SNP	A	TCGA-EJ-7218-01B-11D-A32B-08		46805519	34389691	29	4229											
SOCS6	9306	broad.mit.edu	37	chr18	67992626	67992626	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaaggatcacggagctattGtctggacagctcttctccca	9	10	11	11	1	4	0	1	0	3	0	5	4	4	4	1	4	2	2	1	4	2	3			TCGA-EJ-7218-01B-11D-A32B-08	TCGA-EJ-7218-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45c03982-3401-4737-b89c-b3a16aa6a7f4	1d53564b-d57c-4616-8950-9277fe4e08e5	g.chr18:67992626G>T	ENST00000397942.3	+	2	1038	c.722G>T	c.(721-723)tGt>tTt	p.C241F	SOCS6_ENST00000582322.1_Missense_Mutation_p.C241F	NM_004232.3	NP_004223.2	O14544	SOCS6_HUMAN	suppressor of cytokine signaling 6	241					defense response (GO:0006952)|JAK-STAT cascade (GO:0007259)|negative regulation of signal transduction (GO:0009968)|negative regulation of T cell activation (GO:0050868)|proteasomal protein catabolic process (GO:0010498)|protein ubiquitination (GO:0016567)|regulation of growth (GO:0040008)	cytoplasm (GO:0005737)|immunological synapse (GO:0001772)				NS(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)	22		Esophageal squamous(42;0.129)|Colorectal(73;0.152)				CGGAGCTATTGTCTGGACAGC	0.517																																					Melanoma(84;1024 1361 24382 36583 42651)	ENST00000397942.3																			0				NS(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)	22						c.(721-723)tGt>tTt		suppressor of cytokine signaling 6							97	80	86					18																	67992626		2203	4300	6503	SO:0001583	missense	9306				defense response|JAK-STAT cascade|negative regulation of signal transduction|regulation of growth	cytoplasm		g.chr18:67992626G>T	AB006968	CCDS11998.1	18q22	2013-02-14	2004-02-25	2004-02-27	ENSG00000170677	ENSG00000170677		"Suppressors of cytokine signaling", "SH2 domain containing"	16833	protein-coding gene	gene with protein product		605118	"suppressor of cytokine signaling 4"	SOCS4		9344848, 11042152	Standard	NM_004232		Approved	CIS4, SSI4, HSPC060, STATI4, STAI4, Cish4	uc002lkr.1	O14544	OTTHUMG00000132816	ENST00000397942.3:c.722G>T	18.37:g.67992626G>T	ENSP00000381034:p.Cys241Phe					SOCS6_ENST00000582322.1_Missense_Mutation_p.C241F	p.C241F	NM_004232.3	NP_004223.2	O14544	SOCS6_HUMAN			2	1038	+		Esophageal squamous(42;0.129)|Colorectal(73;0.152)	241					Q8WUM3	Missense_Mutation	SNP	ENST00000397942.3	37	c.722G>T	CCDS11998.1	.	.	.	.	.	.	.	.	.	.	G	18.18	3.566612	0.65651	.	.	ENSG00000170677	ENST00000397942	T	0.28666	1.6	5.0	5.0	0.66597	.	0.777423	0.11736	N	0.534487	T	0.33673	0.0871	L	0.42245	1.32	0.80722	D	1	P	0.48016	0.904	B	0.41571	0.36	T	0.35226	-0.9797	10	0.66056	D	0.02	-12.8871	18.3063	0.90182	0.0:0.0:1.0:0.0	.	241	O14544	SOCS6_HUMAN	F	241	ENSP00000381034:C241F	ENSP00000381034:C241F	C	+	2	0	SOCS6	66143606	1.000000	0.71417	0.958000	0.39756	0.884000	0.51177	9.273000	0.95719	2.309000	0.77851	0.561000	0.74099	TGT		0.517	SOCS6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256270.2			3	33	1	0	0.115264	1	0.119875	3	33					T	67992626	G	T	67992626	3	4	81	1	0	0	0	0	1	0	0	0	14918	1377	48	5	724	5	SOCS6	18	67992626	Missense_Mutation	SNP	G	TCGA-EJ-7218-01B-11D-A32B-08		67992626	10084622	30	4230											
RFX2	5990	broad.mit.edu	37	chr19	6004297	6004297	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggcaaagttacggatggccTgtgtcaaggtacctggggga	9	9	16	7	1	1	0	1	0	0	0	1	2	1	2	2	6	2	3	2	6	4	2			TCGA-EJ-7218-01B-11D-A32B-08	TCGA-EJ-7218-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45c03982-3401-4737-b89c-b3a16aa6a7f4	1d53564b-d57c-4616-8950-9277fe4e08e5	g.chr19:6004297T>C	ENST00000303657.5	-	13	1564	c.1415A>G	c.(1414-1416)cAg>cGg	p.Q472R	RFX2_ENST00000359161.3_Missense_Mutation_p.Q472R|CTC-232P5.1_ENST00000587836.1_RNA|RFX2_ENST00000592546.1_Missense_Mutation_p.Q447R	NM_000635.3	NP_000626.2	P48378	RFX2_HUMAN	regulatory factor X, 2 (influences HLA class II expression)	472					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(4)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21						ACGGATGGCCTGTGTCAAGGT	0.532																																					Colon(38;171 817 19800 47433 48051)	ENST00000303657.5																			0				breast(4)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21						c.(1414-1416)cAg>cGg		regulatory factor X, 2 (influences HLA class II expression)							153	129	138					19																	6004297		2203	4300	6503	SO:0001583	missense	5990				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr19:6004297T>C		CCDS12157.1, CCDS12158.1	19p13.3	2011-11-23			ENSG00000087903	ENSG00000087903			9983	protein-coding gene	gene with protein product	"trans-acting regulatory factor 2", "DNA binding protein RFX2", "HLA class II regulatory factor RFX2"	142765				1505960	Standard	NM_000635		Approved	FLJ14226	uc002meb.3	P48378		ENST00000303657.5:c.1415A>G	19.37:g.6004297T>C	ENSP00000306335:p.Gln472Arg					RFX2_ENST00000359161.3_Missense_Mutation_p.Q472R|RFX2_ENST00000592546.1_Missense_Mutation_p.Q447R|CTC-232P5.1_ENST00000587836.1_RNA	p.Q472R	NM_000635.3	NP_000626.2	P48378	RFX2_HUMAN			13	1564	-			472					A8K581|B3KNC4|Q6IQ44|Q8SNA2	Missense_Mutation	SNP	ENST00000303657.5	37	c.1415A>G	CCDS12157.1	.	.	.	.	.	.	.	.	.	.	T	24.3	4.518711	0.85495	.	.	ENSG00000087903	ENST00000303657;ENST00000359161;ENST00000537791	T	0.08458	3.09	5.14	5.14	0.70334	.	0.000000	0.85682	D	0.000000	T	0.26557	0.0649	M	0.75150	2.29	0.80722	D	1	P;D	0.63046	0.863;0.992	P;D	0.62955	0.729;0.909	T	0.01283	-1.1396	10	0.87932	D	0	-31.8223	14.0709	0.64858	0.0:0.0:0.0:1.0	.	447;472	P48378-2;P48378	.;RFX2_HUMAN	R	472;447;259	ENSP00000306335:Q472R	ENSP00000306335:Q472R	Q	-	2	0	RFX2	5955297	1.000000	0.71417	1.000000	0.80357	0.923000	0.55619	7.832000	0.86757	2.057000	0.61298	0.533000	0.62120	CAG		0.532	RFX2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000452687.1	NM_000635		3	50	0	0	0	1	0	3	50					C	6004297	T	C	6004297	3	2	81	1	0	0	0	0	1	0	0	0	13263	1580	55	4	780	4	RFX2	19	6004297	Missense_Mutation	SNP	T	TCGA-EJ-7218-01B-11D-A32B-08		6004297	53124686	31	4231											
ZNF493	284443	broad.mit.edu	37	chr19	21607304	21607304	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aagcttttaaccgatcttcaAtccttagtatacataagaaa	16	13	4	8	1	2	1	1	0	1	1	3	2	3	1	2	0	3	2	2	0	8	7			TCGA-EJ-7218-01B-11D-A32B-08	TCGA-EJ-7218-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45c03982-3401-4737-b89c-b3a16aa6a7f4	1d53564b-d57c-4616-8950-9277fe4e08e5	g.chr19:21607304A>G	ENST00000355504.4	+	2	1725	c.1459A>G	c.(1459-1461)Atc>Gtc	p.I487V	CTD-2561J22.3_ENST00000600810.1_Intron|ZNF493_ENST00000392288.2_Missense_Mutation_p.I615V	NM_175910.6	NP_787106.4	Q6ZR52	ZN493_HUMAN	zinc finger protein 493	487					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	30						CCGATCTTCAATCCTTAGTAT	0.373																																						ENST00000392288.2																			0				central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	30						c.(1843-1845)Atc>Gtc		zinc finger protein 493																																				SO:0001583	missense	284443				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:21607304A>G	AK093823, BC006408, BC022394	CCDS12412.1, CCDS42536.1, CCDS12411.1	19p12	2013-01-08			ENSG00000196268	ENSG00000196268		"Zinc fingers, C2H2-type", "-"	23708	protein-coding gene	gene with protein product							Standard	NM_001076678		Approved	FLJ36504	uc002npw.3	Q6ZR52	OTTHUMG00000141297	ENST00000355504.4:c.1459A>G	19.37:g.21607304A>G	ENSP00000347691:p.Ile487Val					ZNF493_ENST00000355504.4_Missense_Mutation_p.I487V|CTD-2561J22.3_ENST00000600810.1_Intron	p.I615V	NM_001076678.2	NP_001070146.1	Q6ZR52	ZN493_HUMAN			4	1952	+			487					G5E974|Q59GM3|Q6ZSF6|Q8N1Z6|Q8N965|Q9BR99	Missense_Mutation	SNP	ENST00000355504.4	37	c.1843A>G	CCDS12412.1	.	.	.	.	.	.	.	.	.	.	N	0.009	-1.830595	0.00584	.	.	ENSG00000196268	ENST00000392288;ENST00000355504	T;T	0.07216	3.21;3.21	0.994	-0.485	0.12067	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.04272	0.0118	N	0.12569	0.235	0.09310	N	1	B;B	0.18968	0.016;0.032	B;B	0.15870	0.011;0.014	T	0.42275	-0.9461	9	0.35671	T	0.21	.	5.7879	0.18343	0.3867:0.0:0.6133:0.0	.	487;615	Q6ZR52;Q6ZR52-2	ZN493_HUMAN;.	V	615;487	ENSP00000376110:I615V;ENSP00000347691:I487V	ENSP00000347691:I487V	I	+	1	0	ZNF493	21399144	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	-11.015000	0.00004	-0.651000	0.05415	-0.684000	0.03749	ATC		0.373	ZNF493-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000280563.1	NM_175910		4	56	0	0	0	1	0	4	56					G	21607304	A	G	21607304	3	3	81	1	0	0	0	0	1	0	0	0	17941	101	4	4	1920	4	ZNF493	19	21607304	Missense_Mutation	SNP	A	TCGA-EJ-7218-01B-11D-A32B-08	15603007	21607304	37521679	32	4232											
ZNF334	55713	broad.mit.edu	37	chr20	45131186	45131186	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctacaatcactacaaacataCggtttctcccctgtatgaat	13	12	4	12	1	2	1	1	1	1	0	3	1	2	1	2	1	4	2	2	1	7	5	rs76419021		TCGA-EJ-7218-01B-11D-A32B-08	TCGA-EJ-7218-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45c03982-3401-4737-b89c-b3a16aa6a7f4	1d53564b-d57c-4616-8950-9277fe4e08e5	g.chr20:45131186C>A	ENST00000347606.4	-	5	974	c.792G>T	c.(790-792)ccG>ccT	p.P264P	ZNF334_ENST00000457685.2_Silent_p.P226P|ZNF334_ENST00000593880.1_Silent_p.P287P	NM_018102.4	NP_060572.3	Q9HCZ1	ZN334_HUMAN	zinc finger protein 334	264					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0122)				TACAAACATACGGTTTCTCCC	0.393																																						ENST00000457685.2																			0				NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	32						c.(676-678)ccG>ccT		zinc finger protein 334							101	101	101					20																	45131186		2203	4300	6503	SO:0001819	synonymous_variant	55713				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr20:45131186C>A	AK001331	CCDS33480.1, CCDS74736.1	20q13.12	2013-09-20			ENSG00000198185	ENSG00000198185		"Zinc fingers, C2H2-type", "-"	15806	protein-coding gene	gene with protein product							Standard	NM_018102		Approved	bA179N14.1	uc002xsc.4	Q9HCZ1	OTTHUMG00000032654	ENST00000347606.4:c.792G>T	20.37:g.45131186C>A						ZNF334_ENST00000593880.1_Silent_p.P287P|ZNF334_ENST00000347606.4_Silent_p.P264P	p.P226P			Q9HCZ1	ZN334_HUMAN			6	2001	-		Myeloproliferative disorder(115;0.0122)	264					Q5T6U2|Q9NVW4	Silent	SNP	ENST00000347606.4	37	c.678G>T	CCDS33480.1																																																																																				0.393	ZNF334-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079575.1			16	125	1	0	1.3612e-06	1	1.50601e-06	16	125					A	45131186	C	A	45131186	2	1	81	1	0	0	0	0	0	0	0	1	17848	523	19	5		5	ZNF334	20	45131186	Silent	SNP	C	TCGA-EJ-7218-01B-11D-A32B-08		45131186	17894334	33	4233											
ZNFX1	57169	broad.mit.edu	37	chr20	47863892	47863892	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gggctccatccatttcagaaGcaagctggttgcttctttcc	7	13	9	12	0	2	1	1	0	1	1	5	1	5	1	3	2	3	5	3	2	2	4			TCGA-EJ-7218-01B-11D-A32B-08	TCGA-EJ-7218-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45c03982-3401-4737-b89c-b3a16aa6a7f4	1d53564b-d57c-4616-8950-9277fe4e08e5	g.chr20:47863892G>C	ENST00000396105.1	-	14	5915	c.5669C>G	c.(5668-5670)gCt>gGt	p.A1890G	ZNFX1_ENST00000371752.1_Missense_Mutation_p.A1890G|ZNFX1_ENST00000469991.1_5'Flank|ZNFX1_ENST00000371754.4_Intron	NM_021035.2	NP_066363.1	Q9P2E3	ZNFX1_HUMAN	zinc finger, NFX1-type containing 1	1890							metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			cervix(2)|endometrium(8)|kidney(7)|large_intestine(15)|liver(1)|lung(17)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	60			BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			CATTTCAGAAGCAAGCTGGTT	0.517																																						ENST00000396105.1																			0				cervix(2)|endometrium(8)|kidney(7)|large_intestine(15)|liver(1)|lung(17)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	60						c.(5668-5670)gCt>gGt		zinc finger, NFX1-type containing 1							133	117	122					20																	47863892		2203	4300	6503	SO:0001583	missense	57169						metal ion binding	g.chr20:47863892G>C	AK022641	CCDS13417.1	20q13.13	2014-02-12			ENSG00000124201	ENSG00000124201			29271	protein-coding gene	gene with protein product						10718198	Standard	NM_021035		Approved	KIAA1404, FLJ11277	uc002xui.3	Q9P2E3	OTTHUMG00000032696	ENST00000396105.1:c.5669C>G	20.37:g.47863892G>C	ENSP00000379412:p.Ala1890Gly					ZNFX1_ENST00000371752.1_Missense_Mutation_p.A1890G|ZNFX1_ENST00000371754.4_Intron	p.A1890G	NM_021035.2	NP_066363.1	Q9P2E3	ZNFX1_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		14	5915	-			1890					Q9BQM7|Q9BQM8|Q9H8C1|Q9H9S2|Q9NUM1|Q9NWW1	Missense_Mutation	SNP	ENST00000396105.1	37	c.5669C>G	CCDS13417.1	.	.	.	.	.	.	.	.	.	.	G	33	5.284406	0.95517	.	.	ENSG00000124201	ENST00000371752;ENST00000396105	D;D	0.89617	-2.54;-2.54	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	D	0.95382	0.8501	M	0.86343	2.81	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.95587	0.8651	10	0.87932	D	0	-13.0327	18.6331	0.91368	0.0:0.0:1.0:0.0	.	1890	Q9P2E3	ZNFX1_HUMAN	G	1890	ENSP00000360817:A1890G;ENSP00000379412:A1890G	ENSP00000360817:A1890G	A	-	2	0	ZNFX1	47297299	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	9.776000	0.99001	2.758000	0.94735	0.563000	0.77884	GCT		0.517	ZNFX1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079647.2	NM_021035		14	42	0	0	0	1	0	14	42					C	47863892	G	C	47863892	3	2	81	1	0	0	0	0	1	0	0	0	18202	971	34	5	91	5	ZNFX1	20	47863892	Missense_Mutation	SNP	G	TCGA-EJ-7218-01B-11D-A32B-08	2732706	47863892	15161628	34	4234											
DGCR2	9993	broad.mit.edu	37	chr22	19055731	19055731	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgatgaggacgcacctccccGgtcacttctgaaagcaaaag	12	7	10	12	2	2	3	1	3	1	0	3	4	3	4	3	2	1	2	3	2	3	1			TCGA-EJ-7218-01B-11D-A32B-08	TCGA-EJ-7218-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45c03982-3401-4737-b89c-b3a16aa6a7f4	1d53564b-d57c-4616-8950-9277fe4e08e5	g.chr22:19055731G>A	ENST00000263196.7	-	3	457	c.210C>T	c.(208-210)acC>acT	p.T70T	DGCR2_ENST00000545799.1_Silent_p.T70T|DGCR2_ENST00000537045.1_Silent_p.T29T|DGCR2_ENST00000473832.1_5'Flank	NM_001184781.1|NM_005137.2	NP_001171710.1|NP_005128.1	P98153	IDD_HUMAN	DiGeorge syndrome critical region gene 2	70					cell adhesion (GO:0007155)|cognition (GO:0050890)|organ morphogenesis (GO:0009887)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|skin(1)	18	Colorectal(54;0.0993)					GCACCTCCCCGGTCACTTCTG	0.637																																						ENST00000545799.1																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|skin(1)	18						c.(208-210)acC>acT		DiGeorge syndrome critical region gene 2							44	36	39					22																	19055731		2203	4300	6503	SO:0001819	synonymous_variant	9993				cell adhesion|organ morphogenesis	integral to membrane	receptor activity|sugar binding	g.chr22:19055731G>A	D79985	CCDS33598.1, CCDS54496.1	22q11.21	2008-06-12			ENSG00000070413	ENSG00000070413			2845	protein-coding gene	gene with protein product	"integral membrane protein DGCR2"	600594				7655455, 8630060	Standard	NM_005137		Approved	KIAA0163, LAN, IDD, DGS-C, SEZ-12	uc002zoq.1	P98153	OTTHUMG00000150141	ENST00000263196.7:c.210C>T	22.37:g.19055731G>A						DGCR2_ENST00000537045.1_Silent_p.T29T|DGCR2_ENST00000263196.7_Silent_p.T70T	p.T70T			P98153	IDD_HUMAN			3	410	-	Colorectal(54;0.0993)		70					A6NIB5|A8K6K5|B5TY34|B7Z935	Silent	SNP	ENST00000263196.7	37	c.210C>T	CCDS33598.1																																																																																				0.637	DGCR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316504.1	NM_005137		4	8	0	0	0	1	0	4	8					A	19055731	G	A	19055731	2	1	81	1	0	0	0	0	0	0	0	1	4461	1103	39	2		2	DGCR2	22	19055731	Silent	SNP	G	TCGA-EJ-7218-01B-11D-A32B-08		19055731	32248835	35	4235											
ZBED4	9889	broad.mit.edu	37	chr22	50278227	50278227	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggacaactccaaagctgtctGcattcactgcatgaacgagt	12	9	9	11	1	2	1	1	1	1	0	3	3	3	2	1	1	5	3	1	1	3	1			TCGA-EJ-7218-01B-11D-A32B-08	TCGA-EJ-7218-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45c03982-3401-4737-b89c-b3a16aa6a7f4	1d53564b-d57c-4616-8950-9277fe4e08e5	g.chr22:50278227G>A	ENST00000216268.5	+	2	1394	c.917G>A	c.(916-918)tGc>tAc	p.C306Y		NM_014838.2	NP_055653.2	O75132	ZBED4_HUMAN	zinc finger, BED-type containing 4	306						cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	44		all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.168)|BRCA - Breast invasive adenocarcinoma(115;0.2)|LUAD - Lung adenocarcinoma(64;0.247)		AAAGCTGTCTGCATTCACTGC	0.582																																						ENST00000216268.4																			0				breast(2)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	44						c.(916-918)tGc>tAc		zinc finger, BED-type containing 4							88	90	89					22																	50278227		2203	4300	6503	SO:0001583	missense	9889					cytoplasm|nucleus	DNA binding|metal ion binding|protein dimerization activity	g.chr22:50278227G>A	AB014537	CCDS33677.1	22q13.33	2013-05-03			ENSG00000100426	ENSG00000100426		"Zinc fingers, BED-type"	20721	protein-coding gene	gene with protein product		612552				23533661	Standard	NM_014838		Approved	KIAA0637	uc003bix.2	O75132	OTTHUMG00000150291	ENST00000216268.5:c.917G>A	22.37:g.50278227G>A	ENSP00000216268:p.Cys306Tyr						p.C306Y	NM_014838.2	NP_055653.2	O75132	ZBED4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.168)|BRCA - Breast invasive adenocarcinoma(115;0.2)|LUAD - Lung adenocarcinoma(64;0.247)	2	1394	+		all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164)	306					B2RZH1|Q1ECU0|Q9UGG8	Missense_Mutation	SNP	ENST00000216268.5	37	c.917G>A	CCDS33677.1	.	.	.	.	.	.	.	.	.	.	G	18.73	3.686987	0.68157	.	.	ENSG00000100426	ENST00000216268	D	0.86865	-2.18	5.41	5.41	0.78517	Zinc finger, BED-type predicted (3);	0.000000	0.85682	D	0.000000	D	0.94778	0.8314	M	0.88105	2.93	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95118	0.8244	10	0.87932	D	0	-34.7242	19.3865	0.94557	0.0:0.0:1.0:0.0	.	306	O75132	ZBED4_HUMAN	Y	306	ENSP00000216268:C306Y	ENSP00000216268:C306Y	C	+	2	0	ZBED4	48664231	1.000000	0.71417	0.967000	0.41034	0.314000	0.28054	8.772000	0.91757	2.818000	0.97014	0.650000	0.86243	TGC		0.582	ZBED4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317408.2	NM_014838		4	84	0	0	0	1	0	4	84					A	50278227	G	A	50278227	3	1	81	1	0	0	0	0	1	0	0	0	17517	1319	46	3	919	3	ZBED4	22	50278227	Missense_Mutation	SNP	G	TCGA-EJ-7218-01B-11D-A32B-08	31222496	50278227	1026339	36	4236											
PDK3	5165	broad.mit.edu	37	chrX	24545741	24545741	+	Frame_Shift_Del	DEL	C	C	-																															gaagacagaaaagagggctaCcctgctgttaaaaccctcgt																										TCGA-EJ-7218-01B-11D-A32B-08	TCGA-EJ-7218-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45c03982-3401-4737-b89c-b3a16aa6a7f4	1d53564b-d57c-4616-8950-9277fe4e08e5	g.chrX:24545741delC	ENST00000379162.4	+	8	1036	c.801delC	c.(799-801)tacfs	p.Y267fs	PDK3_ENST00000441463.2_Frame_Shift_Del_p.Y267fs	NM_005391.4	NP_005382.1	Q15120	PDK3_HUMAN	pyruvate dehydrogenase kinase, isozyme 3	267	Histidine kinase. {ECO:0000255|PROSITE- ProRule:PRU00107}.				cell death (GO:0008219)|cellular metabolic process (GO:0044237)|cellular response to fatty acid (GO:0071398)|cellular response to glucose stimulus (GO:0071333)|glucose metabolic process (GO:0006006)|hypoxia-inducible factor-1alpha signaling pathway (GO:0097411)|peptidyl-serine phosphorylation (GO:0018105)|peroxisome proliferator activated receptor signaling pathway (GO:0035357)|pyruvate metabolic process (GO:0006090)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|regulation of glucose metabolic process (GO:0010906)|regulation of reactive oxygen species metabolic process (GO:2000377)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|pyruvate dehydrogenase (acetyl-transferring) kinase activity (GO:0004740)			NS(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23						AAGAGGGCTACCCTGCTGTTA	0.338																																						ENST00000441463.2																			0				NS(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23						c.(799-801)tafs		pyruvate dehydrogenase kinase, isozyme 3							93	79	84					X																	24545741		2203	4300	6503	SO:0001589	frameshift_variant	5165				glucose metabolic process|peptidyl-histidine phosphorylation|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	ATP binding|protein binding|pyruvate dehydrogenase (acetyl-transferring) kinase activity|two-component sensor activity	g.chrX:24545741delC	L42452	CCDS14212.1, CCDS48088.1	Xp22.12	2008-02-05	2005-11-16		ENSG00000067992	ENSG00000067992			8811	protein-coding gene	gene with protein product		300906	"pyruvate dehydrogenase kinase, isoenzyme 3"			7499431	Standard	NM_001142386		Approved		uc004dbh.3	Q15120	OTTHUMG00000021269	ENST00000379162.4:c.801delC	X.37:g.24545741delC	ENSP00000368460:p.Tyr267fs					PDK3_ENST00000379162.4_Frame_Shift_Del_p.Y267fs	p.Y267fs	NM_001142386.2	NP_001135858.1	Q15120	PDK3_HUMAN			8	801	+			267			Histidine kinase.		B4DXG6	Frame_Shift_Del	DEL	ENST00000379162.4	37	c.801delC	CCDS14212.1																																																																																				0.338	PDK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056097.1	NM_005391		2	4						2	4	---	---	---	---	-	24545741	C	-	24545741	7	5	81	1	0	1	0	1	0	0	0	0	11677	518	18	0	831	0	PDK3	23	24545741	Frame_Shift_Del	DEL	C	TCGA-EJ-7218-01B-11D-A32B-08		24545741	130724819	37	4237											
DCAF12L1	139170	broad.mit.edu	37	chrX	125685212	125685212	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggtcatccttagctccagagGcctgcatagttcccatggag	8	10	11	12	0	1	1	1	0	0	1	4	2	4	2	4	3	2	3	4	3	2	3			TCGA-EJ-7218-01B-11D-A32B-08	TCGA-EJ-7218-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45c03982-3401-4737-b89c-b3a16aa6a7f4	1d53564b-d57c-4616-8950-9277fe4e08e5	g.chrX:125685212G>A	ENST00000371126.1	-	1	1622	c.1380C>T	c.(1378-1380)ggC>ggT	p.G460G		NM_178470.4	NP_848565.2	Q5VU92	DC121_HUMAN	DDB1 and CUL4 associated factor 12-like 1	460										breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(39)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68						AGCTCCAGAGGCCTGCATAGT	0.537																																						ENST00000371126.1																			0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(39)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68						c.(1378-1380)ggC>ggT		DDB1 and CUL4 associated factor 12-like 1							64	65	65					X																	125685212		2203	4300	6503	SO:0001819	synonymous_variant	139170							g.chrX:125685212G>A	BC035674	CCDS14610.1	Xq25	2013-01-09	2009-07-17	2009-07-17	ENSG00000198889	ENSG00000198889		"WD repeat domain containing"	29395	protein-coding gene	gene with protein product			"WD repeat domain 40B"	WDR40B		12477932	Standard	NM_178470		Approved	KIAA1892L	uc004eul.3	Q5VU92	OTTHUMG00000022353	ENST00000371126.1:c.1380C>T	X.37:g.125685212G>A							p.G460G	NM_178470.4	NP_848565.2	Q5VU92	DC121_HUMAN			1	1622	-			460					Q8IYK3	Silent	SNP	ENST00000371126.1	37	c.1380C>T	CCDS14610.1																																																																																				0.537	DCAF12L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058186.1	NM_178470		3	33	0	0	0	1	0	3	33					A	125685212	G	A	125685212	2	1	81	1	0	0	0	0	0	0	0	1	4264	1190	42	3		3	DCAF12L1	23	125685212	Silent	SNP	G	TCGA-EJ-7218-01B-11D-A32B-08	101139471	125685212	29585348	38	4238											
SASH3	54440	broad.mit.edu	37	chrX	128927061	128927061	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	atgagctgaacatcatggatCcacagcaccgggccaagctg	12	6	11	12	1	1	2	1	2	0	0	2	3	2	3	3	2	4	3	3	2	2	0			TCGA-EJ-7218-01B-11D-A32B-08	TCGA-EJ-7218-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45c03982-3401-4737-b89c-b3a16aa6a7f4	1d53564b-d57c-4616-8950-9277fe4e08e5	g.chrX:128927061C>A	ENST00000356892.3	+	7	1012	c.898C>A	c.(898-900)Cca>Aca	p.P300T	RP4-753P9.3_ENST00000432513.1_RNA	NM_018990.3	NP_061863.1	O75995	SASH3_HUMAN	SAM and SH3 domain containing 3	300	SAM. {ECO:0000255|PROSITE- ProRule:PRU00184}.				homeostasis of number of cells within a tissue (GO:0048873)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of CD4-positive, alpha-beta T cell differentiation (GO:0043372)|positive regulation of immunoglobulin production (GO:0002639)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of organ growth (GO:0046622)|positive regulation of T cell cytokine production (GO:0002726)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of tumor necrosis factor production (GO:0032760)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(2)|endometrium(2)|large_intestine(1)|lung(3)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	12						CATCATGGATCCACAGCACCG	0.587																																						ENST00000356892.3																			0				breast(2)|endometrium(2)|large_intestine(1)|lung(3)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	12						c.(898-900)Cca>Aca		SAM and SH3 domain containing 3							95	76	82					X																	128927061		2203	4300	6503	SO:0001583	missense	54440							g.chrX:128927061C>A	BC051881	CCDS14614.1	Xq26	2013-01-10	2008-02-18	2008-02-18	ENSG00000122122	ENSG00000122122		"SAM and SH3 domain containing", "Sterile alpha motif (SAM) domain containing"	15975	protein-coding gene	gene with protein product		300441	"chromosome X open reading frame 9"	CXorf9		11470164	Standard	NM_018990		Approved	SLY, 753P9, SH3D6C, HACS2	uc004euu.3	O75995	OTTHUMG00000022372	ENST00000356892.3:c.898C>A	X.37:g.128927061C>A	ENSP00000349359:p.Pro300Thr						p.P300T	NM_018990.3	NP_061863.1	O75995	SASH3_HUMAN			7	1012	+			300			SAM.		A6NCH1|A8K7K8|Q5JZ38	Missense_Mutation	SNP	ENST00000356892.3	37	c.898C>A	CCDS14614.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.384748	0.82792	.	.	ENSG00000122122	ENST00000443760;ENST00000356892	D	0.84146	-1.81	5.8	5.8	0.92144	Sterile alpha motif domain (2);Sterile alpha motif/pointed domain (2);Sterile alpha motif, type 2 (1);	0.000000	0.85682	D	0.000000	D	0.92792	0.7708	M	0.82056	2.57	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.80764	0.994;0.99	D	0.92961	0.6389	10	0.56958	D	0.05	-16.7932	18.6504	0.91429	0.0:1.0:0.0:0.0	.	318;300	B4DKQ0;O75995	.;SASH3_HUMAN	T	318;300	ENSP00000349359:P300T	ENSP00000349359:P300T	P	+	1	0	SASH3	128754742	1.000000	0.71417	0.992000	0.48379	0.939000	0.58152	5.932000	0.70121	2.448000	0.82819	0.600000	0.82982	CCA		0.587	SASH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058208.1	NM_018990		3	32	1	0	1	1	1	3	32					A	128927061	C	A	128927061	3	1	81	1	0	0	0	0	1	0	0	0	13849	855	30	5	924	5	SASH3	23	128927061	Missense_Mutation	SNP	C	TCGA-EJ-7218-01B-11D-A32B-08	3241849	128927061	26343499	39	4239											
GABRD	2563	broad.mit.edu	37	chr1	1956993	1956993	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgttcctgcaccagagctggCgggacagcaggctctcctac	7	8	12	14	1	1	1	0	0	1	1	3	2	2	2	3	3	4	5	3	3	1	2			TCGA-EJ-7312-01B-21D-A32B-08	TCGA-EJ-7312-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95b6d4db-b129-4065-a0d4-923c41a0d7b7	ae7020ae-a05c-4600-8e4f-566529e96967	g.chr1:1956993C>T	ENST00000378585.4	+	4	369	c.286C>T	c.(286-288)Cgg>Tgg	p.R96W		NM_000815.4	NP_000806.2	O14764	GBRD_HUMAN	gamma-aminobutyric acid (GABA) A receptor, delta	96					signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			central_nervous_system(2)|endometrium(3)|kidney(2)|lung(8)|ovary(2)|prostate(1)|skin(2)	20	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;2.7e-19)|all_lung(118;1.22e-08)|Lung NSC(185;1.24e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;2.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.17e-24)|GBM - Glioblastoma multiforme(42;9.56e-08)|Colorectal(212;4.12e-05)|COAD - Colon adenocarcinoma(227;0.000194)|Kidney(185;0.00231)|BRCA - Breast invasive adenocarcinoma(365;0.00441)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0344)|Lung(427;0.2)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	CCAGAGCTGGCGGGACAGCAG	0.652																																						ENST00000378585.4																			0				central_nervous_system(2)|endometrium(3)|kidney(2)|lung(8)|ovary(2)|prostate(1)|skin(2)	20						c.(286-288)Cgg>Tgg		gamma-aminobutyric acid (GABA) A receptor, delta							90	90	90					1																	1956993		2203	4300	6503	SO:0001583	missense	2563					cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chr1:1956993C>T	BC033801	CCDS36.1	1p36.3	2012-06-22			ENSG00000187730	ENSG00000187730		"GABA receptors", "Ligand-gated ion channels / GABA(A) receptors"	4084	protein-coding gene	gene with protein product	"GABA(A) receptor, delta"	137163				2176788, 10965146	Standard	NM_000815		Approved		uc001aip.2	O14764	OTTHUMG00000041064	ENST00000378585.4:c.286C>T	1.37:g.1956993C>T	ENSP00000367848:p.Arg96Trp						p.R96W	NM_000815.4	NP_000806.2	O14764	GBRD_HUMAN		Epithelial(90;2.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.17e-24)|GBM - Glioblastoma multiforme(42;9.56e-08)|Colorectal(212;4.12e-05)|COAD - Colon adenocarcinoma(227;0.000194)|Kidney(185;0.00231)|BRCA - Breast invasive adenocarcinoma(365;0.00441)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0344)|Lung(427;0.2)	4	369	+	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;2.7e-19)|all_lung(118;1.22e-08)|Lung NSC(185;1.24e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)	96					Q8N4N9	Missense_Mutation	SNP	ENST00000378585.4	37	c.286C>T	CCDS36.1	.	.	.	.	.	.	.	.	.	.	C	19.81	3.895679	0.72639	.	.	ENSG00000187730	ENST00000378585	T	0.78246	-1.16	4.4	2.43	0.29744	Neurotransmitter-gated ion-channel ligand-binding (3);	0.062950	0.64402	D	0.000008	D	0.87438	0.6177	M	0.84773	2.715	0.51767	D	0.999938	D	0.89917	1.0	D	0.70935	0.971	D	0.88186	0.2874	10	0.72032	D	0.01	-17.4544	12.6344	0.56675	0.4256:0.5744:0.0:0.0	.	96	O14764	GBRD_HUMAN	W	96	ENSP00000367848:R96W	ENSP00000367848:R96W	R	+	1	2	GABRD	1946853	0.995000	0.38212	0.999000	0.59377	0.994000	0.84299	0.411000	0.21115	0.554000	0.29061	0.561000	0.74099	CGG		0.652	GABRD-001	KNOWN	mRNA_start_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098493.1	NM_000815		5	159	0	0	0	1	0	5	159					T	1956993	C	T	1956993	3	4	82	1	0	0	0	0	1	0	0	0	6169	759	27	1	300	1	GABRD	1	1956993	Missense_Mutation	SNP	C	TCGA-EJ-7312-01B-21D-A32B-08		1956993	247293628	1	4240											
C1orf103	55791	broad.mit.edu	37	chr1	111494145	111494145	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ggttcatatgtggatttgtgGtagaaggagatggtttctcc	8	15	14	4	0	2	2	1	0	1	2	3	4	2	3	1	5	0	3	1	5	3	5			TCGA-EJ-7312-01B-21D-A32B-08	TCGA-EJ-7312-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95b6d4db-b129-4065-a0d4-923c41a0d7b7	ae7020ae-a05c-4600-8e4f-566529e96967	g.chr1:111494145G>T	ENST00000369763.4	-	2	1751	c.1361C>A	c.(1360-1362)aCc>aAc	p.T454N	RP11-96K19.2_ENST00000440689.1_RNA|LRIF1_ENST00000485275.2_Intron|LRIF1_ENST00000494675.1_Intron	NM_018372.3	NP_060842.3	Q5T3J3	LRIF1_HUMAN	ligand dependent nuclear receptor interacting factor 1	454					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	actin cytoskeleton (GO:0015629)|nucleus (GO:0005634)				endometrium(2)|kidney(2)|large_intestine(7)|lung(12)|ovary(2)|skin(1)|urinary_tract(2)	28						TGGATTTGTGGTAGAAGGAGA	0.393																																						ENST00000369763.4																			0				endometrium(2)|kidney(2)|large_intestine(7)|lung(12)|ovary(2)|skin(1)|urinary_tract(2)	28						c.(1360-1362)aCc>aAc		ligand dependent nuclear receptor interacting factor 1							190	189	189					1																	111494145		2203	4300	6503	SO:0001583	missense	55791				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear matrix	protein binding	g.chr1:111494145G>T	AY190122	CCDS30800.1, CCDS41366.1	1p13.3	2011-04-15	2011-04-15	2011-04-15	ENSG00000121931	ENSG00000121931			30299	protein-coding gene	gene with protein product	"receptor interacting factor 1"	615354	"chromosome 1 open reading frame 103"	C1orf103		17455211	Standard	NM_018372		Approved	RIF1, FLJ11269	uc001eaa.3	Q5T3J3	OTTHUMG00000011913	ENST00000369763.4:c.1361C>A	1.37:g.111494145G>T	ENSP00000358778:p.Thr454Asn					LRIF1_ENST00000494675.1_Intron|RP11-96K19.2_ENST00000440689.1_RNA|LRIF1_ENST00000485275.2_Intron	p.T454N	NM_018372.3	NP_060842.3	Q5T3J3	LRIF1_HUMAN			2	1751	-			454					Q86XS4|Q8N3B6|Q96HT4|Q9NUM5|Q9NV32	Missense_Mutation	SNP	ENST00000369763.4	37	c.1361C>A	CCDS30800.1	.	.	.	.	.	.	.	.	.	.	G	10.76	1.440098	0.25900	.	.	ENSG00000121931	ENST00000369763	T	0.42513	0.97	5.83	3.95	0.45737	.	0.780131	0.12111	N	0.498507	T	0.23014	0.0556	L	0.46157	1.445	0.80722	D	1	P	0.36837	0.571	B	0.40228	0.323	T	0.04373	-1.0956	10	0.41790	T	0.15	11.203	8.2641	0.31804	0.1841:0.0:0.8159:0.0	.	454	Q5T3J3	LRIF1_HUMAN	N	454	ENSP00000358778:T454N	ENSP00000358778:T454N	T	-	2	0	LRIF1	111295668	0.744000	0.28250	0.997000	0.53966	0.997000	0.91878	0.591000	0.23969	0.792000	0.33850	0.591000	0.81541	ACC		0.393	LRIF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000032932.2	NM_018372		63	139	1	0	1.63498e-16	1	1.85461e-16	63	139					T	111494145	G	T	111494145	3	4	82	1	0	0	0	0	1	0	0	0	1977	1261	44	5	960	5	C1orf103	1	111494145	Missense_Mutation	SNP	G	TCGA-EJ-7312-01B-21D-A32B-08	109537152	111494145	137756476	2	4241											
TMEM79	84283	broad.mit.edu	37	chr1	156256177	156256177	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagctctttattctctactTcttcaacctggccgtgcttt	5	17	5	14	1	4	0	1	0	3	0	5	0	4	0	3	1	4	2	3	1	3	7			TCGA-EJ-7312-01B-21D-A32B-08	TCGA-EJ-7312-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95b6d4db-b129-4065-a0d4-923c41a0d7b7	ae7020ae-a05c-4600-8e4f-566529e96967	g.chr1:156256177T>A	ENST00000405535.2	+	3	1055	c.884T>A	c.(883-885)tTc>tAc	p.F295Y	TMEM79_ENST00000495881.1_3'UTR|TMEM79_ENST00000295694.5_Missense_Mutation_p.F295Y|TMEM79_ENST00000357501.2_Silent_p.L56L	NM_032323.2	NP_115699.1	Q9BSE2	TMM79_HUMAN	transmembrane protein 79	295					cornification (GO:0070268)|cuticle development (GO:0042335)|epithelial cell maturation (GO:0002070)|establishment of skin barrier (GO:0061436)|hair follicle morphogenesis (GO:0031069)|positive regulation of epidermis development (GO:0045684)|regulated secretory pathway (GO:0045055)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|trans-Golgi network membrane (GO:0032588)				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(9)|urinary_tract(1)	21	Hepatocellular(266;0.158)					ATTCTCTACTTCTTCAACCTG	0.577																																						ENST00000405535.2																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(9)|urinary_tract(1)	21						c.(883-885)tTc>tAc		transmembrane protein 79							155	155	155					1																	156256177		2203	4300	6503	SO:0001583	missense	84283					integral to membrane		g.chr1:156256177T>A	BC005094	CCDS1138.1	1q22	2014-04-22			ENSG00000163472	ENSG00000163472			28196	protein-coding gene	gene with protein product	"mattrin"	615531					Standard	NM_032323		Approved	MGC13102, FLJ16057, FLJ32254, MATT	uc009wrw.3	Q9BSE2	OTTHUMG00000019788	ENST00000405535.2:c.884T>A	1.37:g.156256177T>A	ENSP00000384748:p.Phe295Tyr					TMEM79_ENST00000295694.5_Missense_Mutation_p.F295Y|TMEM79_ENST00000357501.2_Silent_p.L56L|TMEM79_ENST00000495881.1_3'UTR	p.F295Y	NM_032323.2	NP_115699.1	Q9BSE2	TMM79_HUMAN			3	1055	+	Hepatocellular(266;0.158)		295					B2RE22|D3DVB8	Missense_Mutation	SNP	ENST00000405535.2	37	c.884T>A	CCDS1138.1	.	.	.	.	.	.	.	.	.	.	T	28.7	4.946633	0.92593	.	.	ENSG00000163472	ENST00000295694;ENST00000405535	T;T	0.54866	0.55;0.55	5.93	5.93	0.95920	.	0.049190	0.85682	D	0.000000	T	0.60843	0.2300	L	0.59436	1.845	0.58432	D	0.999996	D	0.89917	1.0	D	0.76575	0.988	T	0.63730	-0.6571	10	0.51188	T	0.08	-13.4699	13.7665	0.62999	0.0:0.0:0.0:1.0	.	295	Q9BSE2	TMM79_HUMAN	Y	295	ENSP00000295694:F295Y;ENSP00000384748:F295Y	ENSP00000295694:F295Y	F	+	2	0	TMEM79	154522801	1.000000	0.71417	1.000000	0.80357	0.921000	0.55340	7.408000	0.80041	2.271000	0.75665	0.459000	0.35465	TTC		0.577	TMEM79-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052101.1	NM_032323		5	281	0	0	0	1	0	5	281					A	156256177	T	A	156256177	3	1	82	1	0	0	0	0	1	0	0	0	16200	1783	62	5	890	5	TMEM79	1	156256177	Missense_Mutation	SNP	T	TCGA-EJ-7312-01B-21D-A32B-08	44762032	156256177	92994444	3	4242											
PLB1	151056	broad.mit.edu	37	chr2	28821556	28821556	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aacagaaacctcacaggctaCgccgtgggcacgggtgatgc	11	5	13	12	3	1	2	1	1	0	1	1	2	1	2	2	3	4	2	2	3	3	1			TCGA-EJ-7312-01B-21D-A32B-08	TCGA-EJ-7312-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95b6d4db-b129-4065-a0d4-923c41a0d7b7	ae7020ae-a05c-4600-8e4f-566529e96967	g.chr2:28821556C>T	ENST00000327757.5	+	35	2447	c.2403C>T	c.(2401-2403)taC>taT	p.Y801Y	PLB1_ENST00000422425.2_Silent_p.Y790Y	NM_153021.4	NP_694566.4	Q6P1J6	PLB1_HUMAN	phospholipase B1	801	4 X 308-326 AA approximate repeats.				glycerophospholipid biosynthetic process (GO:0046474)|lipid catabolic process (GO:0016042)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phospholipid metabolic process (GO:0006644)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	lysophospholipase activity (GO:0004622)|phospholipase A2 activity (GO:0004623)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(31)|ovary(6)|prostate(1)|skin(7)|stomach(2)	69	Acute lymphoblastic leukemia(172;0.155)					TCACAGGCTACGCCGTGGGCA	0.532																																						ENST00000422425.2																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(31)|ovary(6)|prostate(1)|skin(7)|stomach(2)	69						c.(2368-2370)taC>taT		phospholipase B1							146	138	141					2																	28821556		2203	4300	6503	SO:0001819	synonymous_variant	151056				lipid catabolic process|retinoid metabolic process|steroid metabolic process	apical plasma membrane|integral to membrane	lysophospholipase activity|phospholipase A2 activity|retinyl-palmitate esterase activity	g.chr2:28821556C>T		CCDS33168.1, CCDS54340.1	2p23.3	2014-03-14			ENSG00000163803	ENSG00000163803	3.1.1.4, 3.1.1.5		30041	protein-coding gene	gene with protein product		610179				12150957	Standard	NM_153021		Approved	PLB, FLJ30866	uc002rmb.2	Q6P1J6	OTTHUMG00000152014	ENST00000327757.5:c.2403C>T	2.37:g.28821556C>T						PLB1_ENST00000327757.5_Silent_p.Y801Y	p.Y790Y	NM_001170585.1	NP_001164056.1	Q6P1J6	PLB1_HUMAN			34	2414	+	Acute lymphoblastic leukemia(172;0.155)		801			4 X 308-326 AA approximate repeats.		A8KAX2|Q53S03|Q8IUP7|Q96DP9	Silent	SNP	ENST00000327757.5	37	c.2370C>T	CCDS33168.1	.	.	.	.	.	.	.	.	.	.	C	6.811	0.518642	0.13005	.	.	ENSG00000163803	ENST00000404858	.	.	.	5.84	-0.115	0.13560	.	.	.	.	.	T	0.49677	0.1571	.	.	.	0.34329	D	0.687496	.	.	.	.	.	.	T	0.55276	-0.8166	4	.	.	.	-14.1401	9.9033	0.41362	0.0:0.4591:0.0:0.5409	.	.	.	.	M	789	.	.	T	+	2	0	PLB1	28675060	0.006000	0.16342	0.267000	0.24556	0.763000	0.43281	-1.473000	0.02339	-0.319000	0.08652	0.561000	0.74099	ACG		0.532	PLB1-012	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000353348.2			9	189	0	0	0	1	0	9	189					T	28821556	C	T	28821556	2	4	82	1	0	0	0	0	0	0	0	1	12024	547	19	1		1	PLB1	2	28821556	Silent	SNP	C	TCGA-EJ-7312-01B-21D-A32B-08		28821556	214377817	4	4243											
STAC	6769	broad.mit.edu	37	chr3	36484942	36484942	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttcttccagcgaaccaacagCgaagacatgaaactgcaagc	15	6	8	12	2	1	2	0	1	1	1	2	4	2	2	2	0	7	1	2	0	5	2			TCGA-EJ-7312-01B-21D-A32B-08	TCGA-EJ-7312-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95b6d4db-b129-4065-a0d4-923c41a0d7b7	ae7020ae-a05c-4600-8e4f-566529e96967	g.chr3:36484942C>T	ENST00000273183.3	+	2	498	c.198C>T	c.(196-198)agC>agT	p.S66S	STAC_ENST00000476388.1_3'UTR|STAC_ENST00000457375.2_Silent_p.S66S	NM_003149.1	NP_003140.1	Q99469	STAC_HUMAN	SH3 and cysteine rich domain	66					cellular response to heat (GO:0034605)|intracellular signal transduction (GO:0035556)|signal transduction (GO:0007165)	cytosol (GO:0005829)	metal ion binding (GO:0046872)			endometrium(5)|large_intestine(9)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(5)	32						GAACCAACAGCGAAGACATGA	0.527																																						ENST00000273183.3																			0				endometrium(5)|large_intestine(9)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(5)	32						c.(196-198)agC>agT		SH3 and cysteine rich domain							98	79	86					3																	36484942		2203	4300	6503	SO:0001819	synonymous_variant	6769				intracellular signal transduction	cytoplasm|soluble fraction	metal ion binding	g.chr3:36484942C>T	D86640	CCDS2662.1	3p22.3	2007-06-08			ENSG00000144681	ENSG00000144681			11353	protein-coding gene	gene with protein product		602317	"src homology three (SH3) and cysteine rich domain"			8954993, 10393425	Standard	XM_006713308		Approved	STAC1	uc003cgh.1	Q99469	OTTHUMG00000130798	ENST00000273183.3:c.198C>T	3.37:g.36484942C>T						STAC_ENST00000457375.2_Silent_p.S66S|STAC_ENST00000476388.1_3'UTR	p.S66S	NM_003149.1	NP_003140.1	Q99469	STAC_HUMAN			2	498	+			66					B2R8S8	Silent	SNP	ENST00000273183.3	37	c.198C>T	CCDS2662.1																																																																																				0.527	STAC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253338.2	NM_003149		45	69	0	0	0	1	0	45	69					T	36484942	C	T	36484942	2	4	82	1	0	0	0	0	0	0	0	1	15238	767	27	1		1	STAC	3	36484942	Silent	SNP	C	TCGA-EJ-7312-01B-21D-A32B-08		36484942	161537488	5	4244											
SLC38A3	10991	broad.mit.edu	37	chr3	50251640	50251640	+	RNA	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtgccctgagccatggaggCgcctttgcagacagagatgg	8	8	15	10	1	0	3	0	1	0	2	0	5	0	4	3	3	3	1	3	3	0	1			TCGA-EJ-7312-01B-21D-A32B-08	TCGA-EJ-7312-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95b6d4db-b129-4065-a0d4-923c41a0d7b7	ae7020ae-a05c-4600-8e4f-566529e96967	g.chr3:50251640C>T	ENST00000420502.1	+	0	162									solute carrier family 38, member 3											breast(1)|cervix(1)|endometrium(1)|lung(3)	6				BRCA - Breast invasive adenocarcinoma(193;0.000275)|KIRC - Kidney renal clear cell carcinoma(197;0.00548)|Kidney(197;0.00615)		GCCATGGAGGCGCCTTTGCAG	0.607																																						ENST00000420502.1																			0				breast(1)|cervix(1)|endometrium(1)|lung(3)	6								solute carrier family 38, member 3	L-Asparagine(DB00174)|L-Glutamine(DB00130)|L-Histidine(DB00117)						40	42	42					3																	50251640		2137	4245	6382			10991				cellular nitrogen compound metabolic process|sodium ion transport	integral to plasma membrane	antiporter activity|L-alanine transmembrane transporter activity|L-asparagine transmembrane transporter activity|L-glutamine transmembrane transporter activity|L-histidine transmembrane transporter activity|symporter activity	g.chr3:50251640C>T	U49082	CCDS74940.1	3p21.3	2013-05-22			ENSG00000188338	ENSG00000188338		"Solute carriers"	18044	protein-coding gene	gene with protein product		604437				10619430, 10823827	Standard	XM_006712954		Approved	G17, SN1	uc003cyn.4	Q99624	OTTHUMG00000156764		3.37:g.50251640C>T										Q99624	S38A3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000275)|KIRC - Kidney renal clear cell carcinoma(197;0.00548)|Kidney(197;0.00615)	0	162	+									RNA	SNP	ENST00000420502.1	37																																																																																						0.607	SLC38A3-001	KNOWN	sequence_error|basic	processed_transcript	processed_transcript	OTTHUMT00000345635.2	NM_006841		6	25	0	0	0	1	0	6	25					T	50251640	C	T	50251640	1	4	82	0	1	0	0	0	0	0	0	0	14605	768	27	1		1	SLC38A3	3	50251640	RNA	SNP	C	TCGA-EJ-7312-01B-21D-A32B-08	13766698	50251640	147770790	6	4245											
ATG3	64422	broad.mit.edu	37	chr3	112255367	112255367	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggtggtggcagatgagggTgattttcaatggtcactgtt	8	13	16	4	0	2	3	2	2	0	1	2	4	2	3	0	5	0	2	0	5	1	3	rs79676996		TCGA-EJ-7312-01B-21D-A32B-08	TCGA-EJ-7312-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95b6d4db-b129-4065-a0d4-923c41a0d7b7	ae7020ae-a05c-4600-8e4f-566529e96967	g.chr3:112255367T>C	ENST00000283290.5	-	10	1183	c.749A>G	c.(748-750)cAc>cGc	p.H250R	ATG3_ENST00000402314.2_Missense_Mutation_p.H250R|ATG3_ENST00000495756.1_5'UTR	NM_022488.3	NP_071933.2	Q9NT62	ATG3_HUMAN	autophagy related 3	250					autophagic vacuole assembly (GO:0000045)|cellular protein modification process (GO:0006464)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|mitochondrion degradation (GO:0000422)|nucleophagy (GO:0044804)|protein targeting to membrane (GO:0006612)|protein ubiquitination (GO:0016567)|regulation of cilium assembly (GO:1902017)	cytoplasmic ubiquitin ligase complex (GO:0000153)|cytosol (GO:0005829)	Atg12 ligase activity (GO:0019777)|Atg8 ligase activity (GO:0019776)|enzyme binding (GO:0019899)|small conjugating protein ligase activity (GO:0019787)			breast(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(3)	9						CAGATGAGGGTGATTTTCAAT	0.388																																						ENST00000402314.2																			0				breast(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(3)	9						c.(748-750)cAc>cGc		autophagy related 3							249	215	227					3																	112255367		2203	4300	6503	SO:0001583	missense	64422				autophagic vacuole assembly|mitochondrial fragmentation involved in apoptosis|protein targeting to membrane|protein ubiquitination	cytoplasmic ubiquitin ligase complex|cytosol	Atg12 ligase activity|Atg8 ligase activity|enzyme binding	g.chr3:112255367T>C		CCDS2966.1, CCDS63721.1	3q13.2	2014-02-12	2012-06-06	2005-09-11	ENSG00000144848	ENSG00000144848			20962	protein-coding gene	gene with protein product		609606	"APG3 autophagy 3-like (S. cerevisiae)", "ATG3 autophagy related 3 homolog (S. cerevisiae)"	APG3L		11825910	Standard	NM_022488		Approved	PC3-96, FLJ22125, MGC15201, DKFZp564M1178	uc003dzd.3	Q9NT62	OTTHUMG00000159260	ENST00000283290.5:c.749A>G	3.37:g.112255367T>C	ENSP00000283290:p.His250Arg					ATG3_ENST00000495756.1_5'UTR|ATG3_ENST00000283290.5_Missense_Mutation_p.H250R	p.H250R			Q9NT62	ATG3_HUMAN			10	1136	-			250					Q6PKC5|Q9H6L9	Missense_Mutation	SNP	ENST00000283290.5	37	c.749A>G	CCDS2966.1	.	.	.	.	.	.	.	.	.	.	.	24.7	4.559500	0.86335	.	.	ENSG00000144848	ENST00000283290;ENST00000402314	.	.	.	5.63	5.63	0.86233	Autophagy-related protein 3 (1);	0.045505	0.85682	D	0.000000	D	0.86777	0.6014	H	0.94345	3.525	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.90419	0.4415	9	0.72032	D	0.01	-26.1202	15.8411	0.78845	0.0:0.0:0.0:1.0	.	250;250	Q9NT62;Q9NT62-2	ATG3_HUMAN;.	R	250	.	ENSP00000283290:H250R	H	-	2	0	ATG3	113738057	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.597000	0.82733	2.147000	0.66899	0.459000	0.35465	CAC		0.388	ATG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354147.1	NM_022488		31	66	0	0	0	1	0	31	66					C	112255367	T	C	112255367	3	2	82	1	0	0	0	0	1	0	0	0	1095	1696	59	4	207	4	ATG3	3	112255367	Missense_Mutation	SNP	T	TCGA-EJ-7312-01B-21D-A32B-08	62003727	112255367	85767063	7	4246											
GOLGB1	2804	broad.mit.edu	37	chr3	121416568	121416568	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttagctgttctttaagagtCttaatttcaaccccaagaga	12	15	6	8	0	3	2	1	0	2	2	3	3	3	2	2	0	2	2	2	0	5	7			TCGA-EJ-7312-01B-21D-A32B-08	TCGA-EJ-7312-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95b6d4db-b129-4065-a0d4-923c41a0d7b7	ae7020ae-a05c-4600-8e4f-566529e96967	g.chr3:121416568C>A	ENST00000340645.5	-	13	2912	c.2787G>T	c.(2785-2787)aaG>aaT	p.K929N	GOLGB1_ENST00000393667.3_Missense_Mutation_p.K934N	NM_001256487.1|NM_001256488.1|NM_004487.4	NP_001243416.1|NP_001243417.1|NP_004478.3	Q14789	GOGB1_HUMAN	golgin B1	929					Golgi organization (GO:0007030)	cis-Golgi network (GO:0005801)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		CTTTAAGAGTCTTAATTTCAA	0.358																																						ENST00000393667.3																			0				NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119						c.(2800-2802)aaG>aaT		golgin B1							98	107	104					3																	121416568		2203	4299	6502	SO:0001583	missense	2804				Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding	g.chr3:121416568C>A	X75304	CCDS3004.1, CCDS58847.1, CCDS74989.1	3q13	2010-02-12	2010-02-12	2007-07-27	ENSG00000173230	ENSG00000173230			4429	protein-coding gene	gene with protein product	"macrogolgin", "golgi integral membrane protein 1"	602500	"golgi autoantigen, golgin subfamily b, macrogolgin (with transmembrane signal), 1", "golgin B1, golgi integral membrane protein"			7691276, 15004235	Standard	NM_001256486		Approved	GCP, GCP372, giantin, GOLIM1	uc010hrc.4	Q14789	OTTHUMG00000159411	ENST00000340645.5:c.2787G>T	3.37:g.121416568C>A	ENSP00000341848:p.Lys929Asn					GOLGB1_ENST00000340645.5_Missense_Mutation_p.K929N	p.K934N	NM_001256486.1	NP_001243415.1	Q14789	GOGB1_HUMAN		GBM - Glioblastoma multiforme(114;0.0989)	13	2912	-			929					B2ZZ91|D3DN92|E7EP74|Q14398	Missense_Mutation	SNP	ENST00000340645.5	37	c.2802G>T	CCDS3004.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	10.44|10.44	1.350123|1.350123	0.24512|0.24512	.|.	.|.	ENSG00000173230|ENSG00000173230	ENST00000340645;ENST00000393667;ENST00000494517;ENST00000426235|ENST00000489400	T;T;T|.	0.25579|.	2.38;2.38;1.79|.	5.35|5.35	1.37|1.37	0.22104|0.22104	.|.	0.000000|.	0.64402|.	D|.	0.000003|.	T|T	0.58708|0.58708	0.2141|0.2141	M|M	0.64997|0.64997	1.995|1.995	0.36537|0.36537	D|D	0.871085|0.871085	P;P;D;D;P|.	0.89917|.	0.95;0.936;1.0;1.0;0.919|.	P;P;D;D;P|.	0.85130|.	0.851;0.725;0.997;0.996;0.607|.	T|T	0.59857|0.59857	-0.7375|-0.7375	10|5	0.42905|.	T|.	0.14|.	.|.	6.5644|6.5644	0.22503|0.22503	0.0:0.523:0.0:0.477|0.0:0.523:0.0:0.477	.|.	854;893;934;934;929|.	F1T0J2;E7EU81;E7EP74;B2ZZ91;Q14789|.	.;.;.;.;GOGB1_HUMAN|.	N|I	929;934;893;741|800	ENSP00000341848:K929N;ENSP00000377275:K934N;ENSP00000418231:K893N|.	ENSP00000341848:K929N|.	K|R	-|-	3|2	2|0	GOLGB1|GOLGB1	122899258|122899258	0.008000|0.008000	0.16893|0.16893	1.000000|1.000000	0.80357|0.80357	0.944000|0.944000	0.59088|0.59088	-0.020000|-0.020000	0.12525|0.12525	0.413000|0.413000	0.25759|0.25759	-0.140000|-0.140000	0.14226|0.14226	AAG|AGA		0.358	GOLGB1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000355159.1	NM_004487		56	179	1	0	3.76997e-23	1	4.34117e-23	56	179					A	121416568	C	A	121416568	3	1	82	1	0	0	0	0	1	0	0	0	6565	912	32	5	7032	5	GOLGB1	3	121416568	Missense_Mutation	SNP	C	TCGA-EJ-7312-01B-21D-A32B-08	9161201	121416568	76605862	8	4247											
MAML3	55534	broad.mit.edu	37	chr4	140811117	140811117	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgctgctgctgctgctgctgCtgctgttgctgttgctgttt	0	18	13	10	0	0	0	0	0	0	0	0	0	0	0	0	0	10	13	0	0	0	3	rs62344938		TCGA-EJ-7312-01B-21D-A32B-08	TCGA-EJ-7312-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95b6d4db-b129-4065-a0d4-923c41a0d7b7	ae7020ae-a05c-4600-8e4f-566529e96967	g.chr4:140811117C>T	ENST00000509479.2	-	2	2329	c.1473G>A	c.(1471-1473)caG>caA	p.Q491Q	MAML3_ENST00000398940.1_Silent_p.Q30Q|MAML3_ENST00000327122.5_Silent_p.Q335Q	NM_018717.4	NP_061187			mastermind-like 3 (Drosophila)											breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25	all_hematologic(180;0.162)					gctgctgctgctgctgttgct	0.547																																						ENST00000509479.2																			0				breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25						c.(1471-1473)caG>caA		mastermind-like 3 (Drosophila)							16	20	18					4																	140811117		2191	4287	6478	SO:0001819	synonymous_variant	55534				Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity	g.chr4:140811117C>T	AB058719	CCDS54805.1	4q31.1	2014-08-12	2003-09-24		ENSG00000196782	ENSG00000196782			16272	protein-coding gene	gene with protein product	"mastermind (drosophila)-like 3"	608991	"trinucleotide repeat containing 3"	TNRC3		12370315, 12386158	Standard	NM_018717		Approved	KIAA1816, MAM2, CAGH3, GDN	uc021xsg.1	Q96JK9	OTTHUMG00000161441	ENST00000509479.2:c.1473G>A	4.37:g.140811117C>T						MAML3_ENST00000398940.1_Silent_p.Q30Q|MAML3_ENST00000327122.5_Silent_p.Q335Q	p.Q491Q	NM_018717.4	NP_061187.2	Q96JK9	MAML3_HUMAN			2	2329	-	all_hematologic(180;0.162)		491			Gln-rich.			Silent	SNP	ENST00000509479.2	37	c.1473G>A	CCDS54805.1																																																																																				0.547	MAML3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364934.2			4	67	0	0	0	1	0	4	67					T	140811117	C	T	140811117	2	4	82	1	0	0	0	0	0	0	0	1	9207	796	28	3		3	MAML3	4	140811117	Silent	SNP	C	TCGA-EJ-7312-01B-21D-A32B-08		140811117	50343159	9	4248											
PCDHB12	56124	broad.mit.edu	37	chr5	140589269	140589269	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttggctccctggttgtgaccGtctcagcctgggatttagac	5	13	12	11	1	1	2	1	1	1	1	3	3	2	3	3	3	1	2	3	3	1	4			TCGA-EJ-7312-01B-21D-A32B-08	TCGA-EJ-7312-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95b6d4db-b129-4065-a0d4-923c41a0d7b7	ae7020ae-a05c-4600-8e4f-566529e96967	g.chr5:140589269G>A	ENST00000239450.2	+	1	979	c.790G>A	c.(790-792)Gtc>Atc	p.V264I	PCDHB12_ENST00000541609.1_Intron	NM_018932.3	NP_061755.1	Q9Y5F1	PCDBC_HUMAN	protocadherin beta 12	264	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGTTGTGACCGTCTCAGCCTG	0.423																																						ENST00000239450.2																			0				NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1)	83						c.(790-792)Gtc>Atc									145	152	150					5																	140589269		2203	4300	6503	SO:0001583	missense	0				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	g.chr5:140589269G>A	AF152491	CCDS4254.1	5q31	2010-01-26			ENSG00000120328	ENSG00000120328		"Cadherins / Protocadherins : Clustered"	8683	other	protocadherin		606338				10380929	Standard	NM_018932		Approved	PCDH-BETA12	uc003liz.3	Q9Y5F1	OTTHUMG00000129620	ENST00000239450.2:c.790G>A	5.37:g.140589269G>A	ENSP00000239450:p.Val264Ile					PCDHB12_ENST00000541609.1_Intron	p.V264I	NM_018932.3	NP_061755.1	Q9Y5F1	PCDBC_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	979	+			264			Cadherin 3.		B4DDU1	Missense_Mutation	SNP	ENST00000239450.2	37	c.790G>A	CCDS4254.1	.	.	.	.	.	.	.	.	.	.	G	12.08	1.830198	0.32329	.	.	ENSG00000120328	ENST00000239450	T	0.02787	4.16	4.16	4.16	0.48862	Cadherin (5);Cadherin-like (1);	.	.	.	.	T	0.05593	0.0147	M	0.67397	2.05	0.80722	D	1	P	0.36222	0.544	B	0.33846	0.171	T	0.30765	-0.9967	9	0.59425	D	0.04	.	16.4004	0.83639	0.0:0.0:1.0:0.0	.	264	Q9Y5F1	PCDBC_HUMAN	I	264	ENSP00000239450:V264I	ENSP00000239450:V264I	V	+	1	0	PCDHB12	140569453	0.990000	0.36364	0.003000	0.11579	0.007000	0.05969	2.831000	0.48144	2.027000	0.59764	0.491000	0.48974	GTC		0.423	PCDHB12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251815.2	NM_018932		93	166	0	0	0	1	0	93	166					A	140589269	G	A	140589269	3	1	82	1	0	0	0	0	1	0	0	0	11537	1145	40	1	792	1	PCDHB12	5	140589269	Missense_Mutation	SNP	G	TCGA-EJ-7312-01B-21D-A32B-08		140589269	40325991	10	4249											
SYNE1	23345	broad.mit.edu	37	chr6	152804261	152804261	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ttgtatcgtgtttgctgtttCctcgtggacctgttgaacgg	4	17	12	8	3	0	1	0	1	0	0	3	2	1	2	2	2	2	5	2	2	2	5			TCGA-EJ-7312-01B-21D-A32B-08	TCGA-EJ-7312-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95b6d4db-b129-4065-a0d4-923c41a0d7b7	ae7020ae-a05c-4600-8e4f-566529e96967	g.chr6:152804261C>T	ENST00000367255.5	-	14	1910	c.1309G>A	c.(1309-1311)Gaa>Aaa	p.E437K	SYNE1_ENST00000413186.2_Missense_Mutation_p.E437K|SYNE1_ENST00000466159.2_Missense_Mutation_p.E437K|SYNE1_ENST00000423061.1_Missense_Mutation_p.E444K|SYNE1_ENST00000367248.3_Missense_Mutation_p.E427K|SYNE1_ENST00000341594.5_Missense_Mutation_p.E437K|SYNE1_ENST00000367253.4_Missense_Mutation_p.E437K|SYNE1_ENST00000265368.4_Missense_Mutation_p.E437K|SYNE1_ENST00000448038.1_Missense_Mutation_p.E444K	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	437					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TTTGCTGTTTCCTCGTGGACC	0.493										HNSCC(10;0.0054)																												ENST00000367255.5																			0				NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524						c.(1309-1311)Gaa>Aaa		spectrin repeat containing, nuclear envelope 1							345	324	331					6																	152804261		2203	4300	6503	SO:0001583	missense	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152804261C>T	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"myocyte nuclear envelope protein 1", "nuclear envelope spectrin repeat-1"	608441	"chromosome 6 open reading frame 98"	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.1309G>A	6.37:g.152804261C>T	ENSP00000356224:p.Glu437Lys	HNSCC(10;0.0054)				SYNE1_ENST00000367248.3_Missense_Mutation_p.E427K|SYNE1_ENST00000423061.1_Missense_Mutation_p.E444K|SYNE1_ENST00000448038.1_Missense_Mutation_p.E444K|SYNE1_ENST00000413186.2_Missense_Mutation_p.E437K|SYNE1_ENST00000265368.4_Missense_Mutation_p.E437K|SYNE1_ENST00000367253.4_Missense_Mutation_p.E437K|SYNE1_ENST00000466159.2_Missense_Mutation_p.E437K|SYNE1_ENST00000341594.5_Missense_Mutation_p.E437K	p.E437K	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	14	1910	-		Ovarian(120;0.0955)	437					E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	c.1309G>A	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	C	35	5.466821	0.96257	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000367253;ENST00000367248;ENST00000413186;ENST00000466159;ENST00000537750	T;T;T;T;T;D;D;D;D;D	0.91631	0.49;0.5;0.4;0.49;0.69;-2.29;-2.44;-2.42;-2.64;-2.88	5.87	5.87	0.94306	.	0.000000	0.56097	D	0.000021	D	0.95915	0.8670	M	0.78801	2.425	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.986;0.967;0.986;0.992	D;P;P;P;D	0.83275	0.996;0.864;0.817;0.864;0.936	D	0.94264	0.7505	10	0.45353	T	0.12	.	20.5827	0.99408	0.0:1.0:0.0:0.0	.	420;437;437;437;444	B3W695;Q8NF91;F5H4Q0;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.;.	K	437;444;437;444;437;437;427;437;437;420	ENSP00000356224:E437K;ENSP00000396024:E444K;ENSP00000265368:E437K;ENSP00000390975:E444K;ENSP00000341887:E437K;ENSP00000356222:E437K;ENSP00000356217:E427K;ENSP00000414510:E437K;ENSP00000446021:E437K;ENSP00000441264:E420K	ENSP00000265368:E437K	E	-	1	0	SYNE1	152845954	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	5.726000	0.68515	2.941000	0.99782	0.655000	0.94253	GAA		0.493	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		128	262	0	0	0	1	0	128	262					T	152804261	C	T	152804261	3	4	82	1	0	0	0	0	1	0	0	0	15442	864	30	3	25689	3	SYNE1	6	152804261	Missense_Mutation	SNP	C	TCGA-EJ-7312-01B-21D-A32B-08		152804261	18310806	11	4250											
TNS3	64759	broad.mit.edu	37	chr7	47384421	47384421	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgggctgaacggaggatggCgcagcgctgttttcactgga	7	9	17	8	3	1	1	1	1	0	0	1	4	1	4	0	5	2	4	0	5	1	2			TCGA-EJ-7312-01B-21D-A32B-08	TCGA-EJ-7312-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95b6d4db-b129-4065-a0d4-923c41a0d7b7	ae7020ae-a05c-4600-8e4f-566529e96967	g.chr7:47384421C>T	ENST00000398879.1	-	20	2948	c.2582G>A	c.(2581-2583)cGc>cAc	p.R861H	TNS3_ENST00000311160.9_Missense_Mutation_p.R861H|TNS3_ENST00000355730.3_Missense_Mutation_p.R621H			Q68CZ2	TENS3_HUMAN	tensin 3	861					cell migration (GO:0016477)|lung alveolus development (GO:0048286)|positive regulation of cell proliferation (GO:0008284)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)				NS(1)|autonomic_ganglia(1)|breast(17)|endometrium(5)|kidney(4)|large_intestine(7)|liver(1)|lung(16)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	64						CGGAGGATGGCGCAGCGCTGT	0.582																																						ENST00000398879.1																			0				NS(1)|autonomic_ganglia(1)|breast(17)|endometrium(5)|kidney(4)|large_intestine(7)|liver(1)|lung(16)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	64						c.(2581-2583)cGc>cAc		tensin 3							63	70	68					7																	47384421		2029	4181	6210	SO:0001583	missense	64759					focal adhesion	protein binding	g.chr7:47384421C>T	AF378756	CCDS5506.2	7p12.3	2013-02-14	2005-05-13	2005-05-13	ENSG00000136205	ENSG00000136205		"SH2 domain containing"	21616	protein-coding gene	gene with protein product	"tumor endothelial marker 6"	606825	"tensin-like SH2 domain-containing 1"	TENS1		11559528	Standard	NM_022748		Approved	TEM6, H_NH0549I23.2, FLJ13732	uc003tnw.3	Q68CZ2	OTTHUMG00000074075	ENST00000398879.1:c.2582G>A	7.37:g.47384421C>T	ENSP00000381854:p.Arg861His					TNS3_ENST00000311160.9_Missense_Mutation_p.R861H|TNS3_ENST00000355730.3_Missense_Mutation_p.R621H	p.R861H			Q68CZ2	TENS3_HUMAN			20	2948	-			861					B2RNV1|Q6IPQ2|Q8IZW7|Q8NAD0|Q96PE0|Q96S48	Missense_Mutation	SNP	ENST00000398879.1	37	c.2582G>A	CCDS5506.2	.	.	.	.	.	.	.	.	.	.	C	10.25	1.299455	0.23650	.	.	ENSG00000136205	ENST00000311160;ENST00000538633;ENST00000398879;ENST00000355730;ENST00000545849;ENST00000457718	D;D;D;D	0.93811	-2.87;-2.87;-3.29;-2.97	5.55	-4.27	0.03744	.	3.025520	0.00669	N	0.000625	D	0.84088	0.5395	N	0.04880	-0.145	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.75303	-0.3365	10	0.15499	T	0.54	-1.7997	12.2745	0.54726	0.0:0.2411:0.0:0.7589	.	861	Q68CZ2	TENS3_HUMAN	H	861;971;861;621;317;964	ENSP00000312143:R861H;ENSP00000381854:R861H;ENSP00000347968:R621H;ENSP00000414358:R964H	ENSP00000312143:R861H	R	-	2	0	TNS3	47350946	0.000000	0.05858	0.000000	0.03702	0.015000	0.08874	-0.964000	0.03833	-0.759000	0.04684	0.462000	0.41574	CGC		0.582	TNS3-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157253.1	NM_022748		19	59	0	0	0	1	0	19	59					T	47384421	C	T	47384421	3	4	82	1	0	0	0	0	1	0	0	0	16341	768	27	1	1803	1	TNS3	7	47384421	Missense_Mutation	SNP	C	TCGA-EJ-7312-01B-21D-A32B-08		47384421	111754242	12	4251											
DMTF1	9988	broad.mit.edu	37	chr7	86815219	86815219	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgagggatggagtagtgtccGttcaccacaatggctacgaa	11	9	13	8	2	1	1	1	1	0	0	2	4	2	3	2	3	1	3	2	3	4	3			TCGA-EJ-7312-01B-21D-A32B-08	TCGA-EJ-7312-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95b6d4db-b129-4065-a0d4-923c41a0d7b7	ae7020ae-a05c-4600-8e4f-566529e96967	g.chr7:86815219G>A	ENST00000394703.5	+	14	1687	c.1124G>A	c.(1123-1125)cGt>cAt	p.R375H	DMTF1_ENST00000432937.2_Missense_Mutation_p.R287H|DMTF1_ENST00000413276.2_Missense_Mutation_p.R375H|DMTF1_ENST00000414194.2_Missense_Mutation_p.R109H|DMTF1_ENST00000331242.7_Missense_Mutation_p.R375H	NM_021145.3	NP_066968.3	Q9Y222	DMTF1_HUMAN	cyclin D binding myb-like transcription factor 1	375	Interaction with CCND1, CCND2 and CCND3. {ECO:0000250}.|Myb-like 2. {ECO:0000255|PROSITE- ProRule:PRU00133}.|Required for DNA-binding. {ECO:0000250}.				cell cycle (GO:0007049)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)	16	Esophageal squamous(14;0.0058)					AGTAGTGTCCGTTCACCACAA	0.388																																						ENST00000414194.2																			0				central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)	16						c.(325-327)cGt>cAt		cyclin D binding myb-like transcription factor 1							253	223	233					7																	86815219		2203	4300	6503	SO:0001583	missense	9988				cell cycle	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:86815219G>A	AF084530	CCDS5601.1, CCDS47633.1	7q21	2014-06-25			ENSG00000135164	ENSG00000135164			14603	protein-coding gene	gene with protein product	"cyclin D-binding Myb-like protein"	608491				10095122, 24958102	Standard	NR_024549		Approved	DMP1, DMTF, hDMP1, MRUL	uc003uih.3	Q9Y222	OTTHUMG00000154135	ENST00000394703.5:c.1124G>A	7.37:g.86815219G>A	ENSP00000378193:p.Arg375His					DMTF1_ENST00000394703.5_Missense_Mutation_p.R375H|DMTF1_ENST00000331242.7_Missense_Mutation_p.R375H|DMTF1_ENST00000432937.2_Missense_Mutation_p.R287H|DMTF1_ENST00000413276.2_Missense_Mutation_p.R375H	p.R109H			Q9Y222	DMTF1_HUMAN			12	2118	+	Esophageal squamous(14;0.0058)		375			Interaction with CCND2 (By similarity).|Required for DNA-binding (By similarity).|Required for transcriptional activation (By similarity).		B2RBE1|B4DJS5|Q05C48|Q59G79|Q6IS13|Q969T2|Q9H2Z2|Q9H2Z3	Missense_Mutation	SNP	ENST00000394703.5	37	c.326G>A	CCDS5601.1	.	.	.	.	.	.	.	.	.	.	G	36	5.848908	0.97023	.	.	ENSG00000135164	ENST00000331242;ENST00000413276;ENST00000432937;ENST00000394703;ENST00000414194	T;T;T;T;T	0.53857	0.6;0.66;0.62;0.6;0.6	6.08	6.08	0.98989	SANT domain, DNA binding (1);MYB-like (1);	0.044769	0.85682	D	0.000000	T	0.65760	0.2722	L	0.34521	1.04	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.65286	-0.6205	10	0.62326	D	0.03	-14.0233	19.6516	0.95815	0.0:0.0:1.0:0.0	.	375	Q9Y222	DMTF1_HUMAN	H	375;375;287;375;109	ENSP00000332171:R375H;ENSP00000402627:R375H;ENSP00000412532:R287H;ENSP00000378193:R375H;ENSP00000415910:R109H	ENSP00000332171:R375H	R	+	2	0	DMTF1	86653155	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.624000	0.98398	2.894000	0.99253	0.655000	0.94253	CGT		0.388	DMTF1-002	KNOWN	alternative_5_UTR|non_canonical_TEC|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334025.5	NM_021145		4	161	0	0	0	1	0	4	161					A	86815219	G	A	86815219	3	1	82	1	0	0	0	0	1	0	0	0	4592	1145	40	1	1162	1	DMTF1	7	86815219	Missense_Mutation	SNP	G	TCGA-EJ-7312-01B-21D-A32B-08	39430798	86815219	72323444	13	4252											
FOXP2	93986	broad.mit.edu	37	chr7	114269988	114269988	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagcaacaacaacaacaacaGcagcaacaacagcagcagca	21	0	6	14	0	0	0	0	0	0	0	0	0	0	0	0	0	13	6	0	0	7	0			TCGA-EJ-7312-01B-21D-A32B-08	TCGA-EJ-7312-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95b6d4db-b129-4065-a0d4-923c41a0d7b7	ae7020ae-a05c-4600-8e4f-566529e96967	g.chr7:114269988G>A	ENST00000393494.2	+	5	804	c.525G>A	c.(523-525)caG>caA	p.Q175Q	FOXP2_ENST00000393489.3_Silent_p.Q83Q|AC020606.1_ENST00000580664.1_RNA|FOXP2_ENST00000393491.3_Silent_p.Q83Q|FOXP2_ENST00000360232.4_Silent_p.Q175Q|FOXP2_ENST00000350908.4_Silent_p.Q175Q|FOXP2_ENST00000378237.3_Silent_p.Q175Q|FOXP2_ENST00000393500.3_Silent_p.Q100Q|FOXP2_ENST00000390668.3_Silent_p.Q199Q|FOXP2_ENST00000403559.4_Silent_p.Q192Q|FOXP2_ENST00000408937.3_Silent_p.Q200Q|FOXP2_ENST00000393498.2_Silent_p.Q155Q			O15409	FOXP2_HUMAN	forkhead box P2	175	Gln-rich.				camera-type eye development (GO:0043010)|caudate nucleus development (GO:0021757)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|growth (GO:0040007)|lung alveolus development (GO:0048286)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of epithelial cell proliferation involved in lung morphogenesis (GO:0060501)|positive regulation of mesenchymal cell proliferation (GO:0002053)|post-embryonic development (GO:0009791)|putamen development (GO:0021758)|righting reflex (GO:0060013)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|vocal learning (GO:0042297)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						aacaacaacagcagcaacaac	0.502																																						ENST00000393500.3																			0				breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						c.(298-300)caG>caA		forkhead box P2							39	36	37					7																	114269988		2200	4289	6489	SO:0001819	synonymous_variant	93986				camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding	g.chr7:114269988G>A	U80741	CCDS5760.1, CCDS5761.1, CCDS43635.1, CCDS5761.2, CCDS55154.1	7q31	2008-07-18			ENSG00000128573	ENSG00000128573		"Forkhead boxes"	13875	protein-coding gene	gene with protein product	"trinucleotide repeat containing 10", "forkhead/winged-helix transcription factor", "speech and language disorder 1", "CAG repeat protein 44"	605317		TNRC10, SPCH1		11586359, 9225980	Standard	NM_014491		Approved	CAGH44	uc003vgz.3	O15409	OTTHUMG00000023131	ENST00000393494.2:c.525G>A	7.37:g.114269988G>A						FOXP2_ENST00000390668.3_Silent_p.Q199Q|FOXP2_ENST00000393491.3_Silent_p.Q83Q|FOXP2_ENST00000408937.3_Silent_p.Q200Q|FOXP2_ENST00000360232.4_Silent_p.Q175Q|AC020606.1_ENST00000580664.1_RNA|FOXP2_ENST00000393498.2_Silent_p.Q155Q|FOXP2_ENST00000393489.3_Silent_p.Q83Q|FOXP2_ENST00000403559.4_Silent_p.Q192Q|FOXP2_ENST00000393494.2_Silent_p.Q175Q|FOXP2_ENST00000350908.4_Silent_p.Q175Q|FOXP2_ENST00000378237.3_Silent_p.Q175Q	p.Q100Q			O15409	FOXP2_HUMAN			11	1120	+			175			Gln-rich.		A0AUV6|A4D0U8|A6NNW4|B4DLD9|Q6ZND1|Q75MJ3|Q8IZE0|Q8N0W2|Q8N6B7|Q8N6B8|Q8NFQ1|Q8NFQ2|Q8NFQ3|Q8NFQ4|Q8TD74	Silent	SNP	ENST00000393494.2	37	c.300G>A	CCDS5760.1																																																																																				0.502	FOXP2-014	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317366.1	NM_014491		6	95	0	0	0	1	0	6	95					A	114269988	G	A	114269988	2	1	82	1	0	0	0	0	0	0	0	1	6027	962	34	3		3	FOXP2	7	114269988	Silent	SNP	G	TCGA-EJ-7312-01B-21D-A32B-08	27454769	114269988	44868675	14	4253											
DPYS	1807	broad.mit.edu	37	chr8	105440214	105440214	+	Frame_Shift_Del	DEL	T	T	-																															cctgtgaaacccaccacgccTttttcccatattacggacat																										TCGA-EJ-7312-01B-21D-A32B-08	TCGA-EJ-7312-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95b6d4db-b129-4065-a0d4-923c41a0d7b7	ae7020ae-a05c-4600-8e4f-566529e96967	g.chr8:105440214delT	ENST00000351513.2	-	6	1218	c.1086delA	c.(1084-1086)aaafs	p.K362fs	AP003471.2_ENST00000410226.1_RNA	NM_001385.2	NP_001376.1	Q14117	DPYS_HUMAN	dihydropyrimidinase	362					beta-alanine metabolic process (GO:0019482)|nucleobase-containing small molecule metabolic process (GO:0055086)|protein homotetramerization (GO:0051289)|pyrimidine nucleobase catabolic process (GO:0006208)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|small molecule metabolic process (GO:0044281)|thymine catabolic process (GO:0006210)|uracil catabolic process (GO:0006212)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	amino acid binding (GO:0016597)|dihydropyrimidinase activity (GO:0004157)|thymine binding (GO:0002059)|uracil binding (GO:0002058)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229)			CCACCACGCCTTTTTCCCATA	0.478																																						ENST00000351513.2																			0				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						c.(1084-1086)aafs		dihydropyrimidinase							179	176	177					8																	105440214		2203	4300	6503	SO:0001589	frameshift_variant	1807				protein homotetramerization|pyrimidine nucleoside catabolic process|thymine catabolic process|uracil catabolic process	cytosol	dihydropyrimidinase activity|zinc ion binding	g.chr8:105440214delT	D78011	CCDS6302.1	8q22	2004-01-22			ENSG00000147647	ENSG00000147647			3013	protein-coding gene	gene with protein product		613326				8973361	Standard	NM_001385		Approved	DHPase	uc003yly.4	Q14117	OTTHUMG00000164891	ENST00000351513.2:c.1086delA	8.37:g.105440214delT	ENSP00000276651:p.Lys362fs						p.K362fs	NM_001385.2	NP_001376.1	Q14117	DPYS_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229)		6	1218	-			362						Frame_Shift_Del	DEL	ENST00000351513.2	37	c.1086delA	CCDS6302.1																																																																																				0.478	DPYS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380814.1	NM_001385		7	544						7	544	---	---	---	---	-	105440214	T	-	105440214	7	5	82	1	0	1	0	1	0	0	0	0	4746	1606	56	0	489	0	DPYS	8	105440214	Frame_Shift_Del	DEL	T	TCGA-EJ-7312-01B-21D-A32B-08		105440214	40923808	15	4254											
WISP1	8840	broad.mit.edu	37	chr8	134232956	134232956	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accactgtgcctccgagtgcGccccccgcgtctctggtgcc	3	8	11	19	4	1	0	0	0	1	0	3	1	2	0	7	1	3	0	7	1	0	0	rs140648348	byFrequency	TCGA-EJ-7312-01B-21D-A32B-08	TCGA-EJ-7312-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95b6d4db-b129-4065-a0d4-923c41a0d7b7	ae7020ae-a05c-4600-8e4f-566529e96967	g.chr8:134232956G>A	ENST00000250160.6	+	3	588	c.482G>A	c.(481-483)cGc>cAc	p.R161H	WISP1_ENST00000220856.6_Intron|WISP1_ENST00000517423.1_Intron|WISP1_ENST00000377863.2_Intron|WISP1_ENST00000519433.1_Intron	NM_003882.3	NP_003873.1	O95388	WISP1_HUMAN	WNT1 inducible signaling pathway protein 1	161	VWFC. {ECO:0000255|PROSITE- ProRule:PRU00220}.				cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|regulation of cell growth (GO:0001558)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	21	all_epithelial(106;5.39e-23)|Lung NSC(106;7.26e-07)|all_lung(105;2.77e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0107)			CTCCGAGTGCGCCCCCCGCGT	0.657													G|||	2	0.000399361	0.0015	0	5008	,	,		16969	0		0	False		,,,				2504	0					ENST00000250160.6																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	21						c.(481-483)cGc>cAc		WNT1 inducible signaling pathway protein 1		G	,,HIS/ARG,	6,4400	11.4+/-27.6	0,6,2197	59	54	56		,,482,	4.8	0.6	8	dbSNP_134	56	0,8598		0,0,4299	yes	intron,intron,missense,intron	WISP1	NM_001204869.1,NM_001204870.1,NM_003882.3,NM_080838.2	,,29,	0,6,6496	AA,AG,GG		0.0,0.1362,0.0461	,,probably-damaging,	,,161/368,	134232956	6,12998	2203	4299	6502	SO:0001583	missense	8840				cell adhesion|cell-cell signaling|regulation of cell growth|Wnt receptor signaling pathway	extracellular region|soluble fraction	insulin-like growth factor binding	g.chr8:134232956G>A	AF100779	CCDS6371.1, CCDS6372.1, CCDS56555.1, CCDS56556.1	8q24.22	2007-05-14			ENSG00000104415	ENSG00000104415			12769	protein-coding gene	gene with protein product		603398				9843955	Standard	NM_003882		Approved	CCN4	uc003yub.3	O95388	OTTHUMG00000164440	ENST00000250160.6:c.482G>A	8.37:g.134232956G>A	ENSP00000250160:p.Arg161His					WISP1_ENST00000220856.6_Intron|WISP1_ENST00000517423.1_Intron|WISP1_ENST00000377863.2_Intron|WISP1_ENST00000519433.1_Intron	p.R161H	NM_003882.3	NP_003873.1	O95388	WISP1_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0107)		3	588	+	all_epithelial(106;5.39e-23)|Lung NSC(106;7.26e-07)|all_lung(105;2.77e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)		161			VWFC.		A8KAG6|E7EMM5|Q5JBS6|Q5JBS7|Q5JBS8|Q9HCS3	Missense_Mutation	SNP	ENST00000250160.6	37	c.482G>A	CCDS6371.1	.	.	.	.	.	.	.	.	.	.	G	15.95	2.982919	0.53827	0.001362	0.0	ENSG00000104415	ENST00000250160	T	0.79653	-1.29	4.76	4.76	0.60689	von Willebrand factor, type C (4);	0.325219	0.33438	N	0.004913	D	0.87799	0.6268	M	0.73598	2.24	0.80722	D	1	D	0.71674	0.998	P	0.60173	0.87	D	0.89107	0.3493	10	0.56958	D	0.05	-36.5518	16.7282	0.85428	0.0:0.0:1.0:0.0	.	161	O95388	WISP1_HUMAN	H	161	ENSP00000250160:R161H	ENSP00000250160:R161H	R	+	2	0	WISP1	134302138	0.994000	0.37717	0.610000	0.28997	0.206000	0.24218	4.073000	0.57570	2.193000	0.70182	0.557000	0.71058	CGC		0.657	WISP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378794.2	NM_003882		10	127	0	0	0	1	0	10	127					A	134232956	G	A	134232956	3	1	82	1	0	0	0	0	1	0	0	0	17369	1087	38	1	492	1	WISP1	8	134232956	Missense_Mutation	SNP	G	TCGA-EJ-7312-01B-21D-A32B-08	28792742	134232956	12131066	16	4255											
COL22A1	169044	broad.mit.edu	37	chr8	139833397	139833397	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acgtcaatgggcacactgtcGtagaggcgcttgccaatcac	10	8	11	12	3	2	1	2	0	0	1	3	1	2	1	1	2	1	3	1	2	3	2			TCGA-EJ-7312-01B-21D-A32B-08	TCGA-EJ-7312-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95b6d4db-b129-4065-a0d4-923c41a0d7b7	ae7020ae-a05c-4600-8e4f-566529e96967	g.chr8:139833397G>A	ENST00000303045.6	-	7	1673	c.1227C>T	c.(1225-1227)taC>taT	p.Y409Y	COL22A1_ENST00000435777.1_Silent_p.Y409Y	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	409	Laminin G-like.				extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)		p.Y409Y(1)		breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			GCACACTGTCGTAGAGGCGCT	0.587										HNSCC(7;0.00092)																												ENST00000303045.6																			1	Substitution - coding silent(1)	p.Y409Y(1)	large_intestine(1)	breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211						c.(1225-1227)taC>taT		collagen, type XXII, alpha 1							171	121	138					8																	139833397		2203	4300	6503	SO:0001819	synonymous_variant	169044				cell adhesion	collagen|cytoplasm	structural molecule activity	g.chr8:139833397G>A	AF406780	CCDS6376.1	8q24.3	2013-01-16			ENSG00000169436	ENSG00000169436		"Collagens"	22989	protein-coding gene	gene with protein product		610026					Standard	NM_152888		Approved		uc003yvd.3	Q8NFW1	OTTHUMG00000150035	ENST00000303045.6:c.1227C>T	8.37:g.139833397G>A		HNSCC(7;0.00092)				COL22A1_ENST00000435777.1_Silent_p.Y409Y	p.Y409Y	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0517)		7	1673	-	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		409			TSP N-terminal.		B7ZMH0|C9K0G4|Q8IVT9	Silent	SNP	ENST00000303045.6	37	c.1227C>T	CCDS6376.1																																																																																				0.587	COL22A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000315905.2	XM_291257		32	53	0	0	0	1	0	32	53					A	139833397	G	A	139833397	2	1	82	1	0	0	0	0	0	0	0	1	3681	1140	40	1		1	COL22A1	8	139833397	Silent	SNP	G	TCGA-EJ-7312-01B-21D-A32B-08	5600441	139833397	6530625	17	4256											
PARP10	84875	broad.mit.edu	37	chr8	145058577	145058577	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaactcctcagccgcctggCaggaagcctgggctccacag	9	5	12	15	1	1	0	1	0	0	0	3	2	3	1	5	3	3	2	5	3	2	0			TCGA-EJ-7312-01B-21D-A32B-08	TCGA-EJ-7312-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95b6d4db-b129-4065-a0d4-923c41a0d7b7	ae7020ae-a05c-4600-8e4f-566529e96967	g.chr8:145058577C>A	ENST00000313028.7	-	6	1575	c.1481G>T	c.(1480-1482)tGc>tTc	p.C494F	PARP10_ENST00000525773.1_Missense_Mutation_p.C506F|PARP10_ENST00000524918.1_Missense_Mutation_p.C494F|PARP10_ENST00000533665.1_5'Flank	NM_032789.3	NP_116178.2	Q53GL7	PAR10_HUMAN	poly (ADP-ribose) polymerase family, member 10	494					negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of gene expression (GO:0010629)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein import into nucleus, translocation (GO:0033159)|negative regulation of protein K63-linked ubiquitination (GO:1900045)|negative regulation of viral genome replication (GO:0045071)|protein ADP-ribosylation (GO:0006471)|protein auto-ADP-ribosylation (GO:0070213)|protein poly-ADP-ribosylation (GO:0070212)|regulation of chromatin assembly (GO:0010847)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	K63-linked polyubiquitin binding (GO:0070530)|NAD+ ADP-ribosyltransferase activity (GO:0003950)			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|pancreas(1)|upper_aerodigestive_tract(2)	27	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.31e-40)|Epithelial(56;1.16e-39)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			AGCCGCCTGGCAGGAAGCCTG	0.612																																						ENST00000313028.7																			0				NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|pancreas(1)|upper_aerodigestive_tract(2)	27						c.(1480-1482)tGc>tTc		poly (ADP-ribose) polymerase family, member 10							18	22	20					8																	145058577		2199	4289	6488	SO:0001583	missense	84875					Golgi apparatus|nucleolus	NAD+ ADP-ribosyltransferase activity|nucleotide binding	g.chr8:145058577C>A	AK027370	CCDS34960.1	8q24	2010-02-16				ENSG00000178685		"Poly (ADP-ribose) polymerases"	25895	protein-coding gene	gene with protein product		609564				15273990	Standard	NM_032789		Approved	FLJ14464	uc003zal.4	Q53GL7		ENST00000313028.7:c.1481G>T	8.37:g.145058577C>A	ENSP00000325618:p.Cys494Phe					PARP10_ENST00000525773.1_Missense_Mutation_p.C506F|PARP10_ENST00000524918.1_Missense_Mutation_p.C494F	p.C494F	NM_032789.3	NP_116178.2	Q53GL7	PAR10_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;1.31e-40)|Epithelial(56;1.16e-39)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		6	1575	-	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		494					Q8N2I0|Q8WV05|Q96CH7|Q96K72	Missense_Mutation	SNP	ENST00000313028.7	37	c.1481G>T	CCDS34960.1	.	.	.	.	.	.	.	.	.	.	C	14.05	2.419590	0.42918	.	.	ENSG00000178685	ENST00000524918;ENST00000534861;ENST00000313028;ENST00000525773	T;T;T	0.20738	2.05;2.08;2.08	4.35	4.35	0.52113	.	0.000000	0.50627	D	0.000103	T	0.45478	0.1344	M	0.69823	2.125	0.49051	D	0.999741	D;D	0.89917	1.0;0.99	D;D	0.85130	0.997;0.921	T	0.49466	-0.8937	10	0.87932	D	0	.	14.414	0.67137	0.0:1.0:0.0:0.0	.	506;494	E9PNI7;Q53GL7	.;PAR10_HUMAN	F	494;200;494;506	ENSP00000431620:C494F;ENSP00000325618:C494F;ENSP00000434776:C506F	ENSP00000325618:C494F	C	-	2	0	PARP10	145130565	1.000000	0.71417	0.388000	0.26195	0.006000	0.05464	5.463000	0.66712	1.974000	0.57490	0.645000	0.84053	TGC		0.612	PARP10-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000383866.1	NM_032789		3	44	1	0	0.115264	1	0.115264	3	44					A	145058577	C	A	145058577	3	1	82	1	0	0	0	0	1	0	0	0	11455	710	25	5	1620	5	PARP10	8	145058577	Missense_Mutation	SNP	C	TCGA-EJ-7312-01B-21D-A32B-08	5225180	145058577	1305445	18	4257											
ANK3	288	broad.mit.edu	37	chr10	61967816	61967816	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gggctttggcattggggttaGctttcttatccaagagaacc	8	13	12	8	0	1	1	0	0	1	1	2	2	2	1	2	4	2	4	2	4	4	5	rs375186550		TCGA-EJ-7312-01B-21D-A32B-08	TCGA-EJ-7312-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95b6d4db-b129-4065-a0d4-923c41a0d7b7	ae7020ae-a05c-4600-8e4f-566529e96967	g.chr10:61967816G>A	ENST00000280772.2	-	10	1363	c.1172C>T	c.(1171-1173)gCt>gTt	p.A391V	ANK3_ENST00000503366.1_Missense_Mutation_p.A374V|ANK3_ENST00000373827.2_Missense_Mutation_p.A385V	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	391					axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization (GO:0045184)|Golgi to plasma membrane protein transport (GO:0043001)|maintenance of protein location in plasma membrane (GO:0072660)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|neuromuscular junction development (GO:0007528)|neuronal action potential (GO:0019228)|plasma membrane organization (GO:0007009)|positive regulation of cell communication by electrical coupling (GO:0010650)|positive regulation of gene expression (GO:0010628)|positive regulation of homotypic cell-cell adhesion (GO:0034112)|positive regulation of membrane depolarization during cardiac muscle cell action potential (GO:1900827)|positive regulation of membrane potential (GO:0045838)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein localization to plasma membrane (GO:0072659)|protein targeting to plasma membrane (GO:0072661)|regulation of potassium ion transport (GO:0043266)|signal transduction (GO:0007165)	axon initial segment (GO:0043194)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|costamere (GO:0043034)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|lysosome (GO:0005764)|neuromuscular junction (GO:0031594)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|T-tubule (GO:0030315)|Z disc (GO:0030018)	cadherin binding (GO:0045296)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						ATTGGGGTTAGCTTTCTTATC	0.527																																						ENST00000280772.1																			0				NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						c.(1171-1173)gCt>gTt		ankyrin 3, node of Ranvier (ankyrin G)		G	VAL/ALA,VAL/ALA,VAL/ALA	0,4406		0,0,2203	132	123	126		1154,1121,1172	4.7	1	10		126	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	ANK3	NM_001204403.1,NM_001204404.1,NM_020987.3	64,64,64	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging,possibly-damaging	385/1862,374/1869,391/4378	61967816	1,13005	2203	4300	6503	SO:0001583	missense	288				establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding	g.chr10:61967816G>A	U13616	CCDS7258.1, CCDS7259.1, CCDS55711.1, CCDS55712.1	10q21	2013-01-10			ENSG00000151150	ENSG00000151150		"Ankyrin repeat domain containing"	494	protein-coding gene	gene with protein product	"ankyrin-3, node of Ranvier", "ankyrin-G"	600465				7665168	Standard	NM_020987		Approved		uc001jky.3	Q12955	OTTHUMG00000018288	ENST00000280772.2:c.1172C>T	10.37:g.61967816G>A	ENSP00000280772:p.Ala391Val					ANK3_ENST00000373827.2_Missense_Mutation_p.A385V|ANK3_ENST00000503366.1_Missense_Mutation_p.A374V	p.A391V	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN			10	1363	-			391					B1AQT2|B4DIL1|E9PE32|Q13484|Q5CZH9|Q5VXD5|Q7Z3G4|Q9H0P5	Missense_Mutation	SNP	ENST00000280772.2	37	c.1172C>T	CCDS7258.1	.	.	.	.	.	.	.	.	.	.	G	25.6	4.652295	0.88056	0.0	1.16E-4	ENSG00000151150	ENST00000280772;ENST00000373827;ENST00000503366;ENST00000395299;ENST00000395293;ENST00000395304	T;T;T	0.24908	1.83;1.83;1.83	4.67	4.67	0.58626	Ankyrin repeat-containing domain (4);	0.000000	0.41938	D	0.000796	T	0.48926	0.1527	L	0.61218	1.895	0.80722	D	1	P;P;D;P	0.60160	0.545;0.769;0.987;0.749	B;P;D;P	0.68765	0.37;0.527;0.96;0.478	T	0.52238	-0.8602	10	0.87932	D	0	.	17.7769	0.88511	0.0:0.0:1.0:0.0	.	374;52;385;391	E9PE32;E7EMJ1;Q5CZH9;Q12955	.;.;.;ANK3_HUMAN	V	391;385;374;353;52;52	ENSP00000280772:A391V;ENSP00000362933:A385V;ENSP00000425236:A374V	ENSP00000280772:A391V	A	-	2	0	ANK3	61637822	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.657000	0.83745	2.430000	0.82344	0.563000	0.77884	GCT		0.527	ANK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048201.4	NM_020987		7	102	0	0	0	1	0	7	102					A	61967816	G	A	61967816	3	1	82	1	0	0	0	0	1	0	0	0	622	971	34	3	12430	3	ANK3	10	61967816	Missense_Mutation	SNP	G	TCGA-EJ-7312-01B-21D-A32B-08		61967816	73566931	19	4258											
CDH23	64072	broad.mit.edu	37	chr10	73558150	73558150	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cctggacgtcaatgacaataCgccccagttcaagccctttg	10	9	8	14	2	2	1	2	1	0	0	2	2	2	2	4	1	2	1	4	1	4	3	rs370912192		TCGA-EJ-7312-01B-21D-A32B-08	TCGA-EJ-7312-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95b6d4db-b129-4065-a0d4-923c41a0d7b7	ae7020ae-a05c-4600-8e4f-566529e96967	g.chr10:73558150C>T	ENST00000224721.6	+	49	6889	c.6884C>T	c.(6883-6885)aCg>aTg	p.T2295M	CDH23_ENST00000475158.1_3'UTR|CDH23_ENST00000398788.3_Missense_Mutation_p.T50M	NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	2290					calcium ion transport (GO:0006816)|calcium-dependent cell-cell adhesion (GO:0016339)|cytosolic calcium ion homeostasis (GO:0051480)|equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						AATGACAATACGCCCCAGTTC	0.612																																						ENST00000224721.6																			0				NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						c.(6883-6885)aCg>aTg		cadherin-related 23		C	MET/THR,MET/THR,MET/THR	1,4279		0,1,2139	79	83	81		149,149,6869	5.5	0.7	10		81	0,8494		0,0,4247	no	missense,missense,missense	CDH23	NM_001171933.1,NM_001171934.1,NM_022124.5	81,81,81	0,1,6386	TT,TC,CC		0.0,0.0234,0.0078	probably-damaging,probably-damaging,probably-damaging	50/1115,50/1080,2290/3355	73558150	1,12773	2140	4247	6387	SO:0001583	missense	64072				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding	g.chr10:73558150C>T	AY010111	CCDS53540.1, CCDS73146.1	10q22.1	2014-08-08	2010-01-25		ENSG00000107736	ENSG00000107736		"Cadherins / Cadherin-related"	13733	protein-coding gene	gene with protein product	"cadherin-related family member 23"	605516	"cadherin related 23", "cadherin-like 23"	DFNB12, USH1D		11090341	Standard	NM_022124		Approved	CDHR23	uc001jrx.4	Q9H251	OTTHUMG00000019347	ENST00000224721.6:c.6884C>T	10.37:g.73558150C>T	ENSP00000224721:p.Thr2295Met					CDH23_ENST00000398788.3_Missense_Mutation_p.T50M|CDH23_ENST00000475158.1_3'UTR	p.T2295M	NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN			49	6889	+			2290					C4IXS9|F6U049|Q5QGS1|Q5QGS2|Q5QGS5|Q5QGS6|Q5XKN2|Q6UWW1|Q96JL3|Q9H4K9	Missense_Mutation	SNP	ENST00000224721.6	37	c.6884C>T		.	.	.	.	.	.	.	.	.	.	C	21.9	4.212400	0.79240	2.34E-4	0.0	ENSG00000107736	ENST00000398860;ENST00000398855;ENST00000224721;ENST00000398788	T	0.59502	0.26	5.53	5.53	0.82687	Cadherin (3);Cadherin conserved site (1);Cadherin-like (1);	0.059487	0.64402	D	0.000002	T	0.74921	0.3780	M	0.76574	2.34	0.80722	D	1	D;D	0.89917	1.0;0.994	D;P	0.63488	0.915;0.836	T	0.72896	-0.4153	10	0.35671	T	0.21	.	19.4544	0.94882	0.0:1.0:0.0:0.0	.	2290;2290	E9PEX1;Q9H251	.;CAD23_HUMAN	M	2295;2290;2293;50	ENSP00000381768:T50M	ENSP00000224721:T2295M	T	+	2	0	CDH23	73228156	1.000000	0.71417	0.663000	0.29738	0.422000	0.31414	6.070000	0.71220	2.610000	0.88304	0.655000	0.94253	ACG		0.612	CDH23-001	PUTATIVE	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000051227.4	NM_052836		12	83	0	0	0	1	0	12	83					T	73558150	C	T	73558150	3	4	82	1	0	0	0	0	1	0	0	0	3108	536	19	1	7408	1	CDH23	10	73558150	Missense_Mutation	SNP	C	TCGA-EJ-7312-01B-21D-A32B-08	11590334	73558150	61976597	20	4259											
MKI67	4288	broad.mit.edu	37	chr10	129906979	129906979	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ctgacgtccgtgtgaacttgCcgactgctaggagctcttct	6	12	11	12	3	2	2	0	2	2	0	3	4	3	3	2	1	4	2	2	1	2	3			TCGA-EJ-7312-01B-21D-A32B-08	TCGA-EJ-7312-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95b6d4db-b129-4065-a0d4-923c41a0d7b7	ae7020ae-a05c-4600-8e4f-566529e96967	g.chr10:129906979C>T	ENST00000368654.3	-	13	3500	c.3125G>A	c.(3124-3126)gGc>gAc	p.G1042D	MKI67_ENST00000368653.3_Missense_Mutation_p.G682D|MKI67_ENST00000484853.1_5'Flank	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	1042	16 X 122 AA approximate repeats.		G -> S (in dbSNP:rs2152143).		cell proliferation (GO:0008283)|cellular response to heat (GO:0034605)|DNA metabolic process (GO:0006259)|hyaluronan metabolic process (GO:0030212)|meiotic nuclear division (GO:0007126)|organ regeneration (GO:0031100)|response to organic cyclic compound (GO:0014070)	chromosome, centromeric region (GO:0000775)|condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				TGTGAACTTGCCGACTGCTAG	0.507																																						ENST00000368654.3																			0				NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159						c.(3124-3126)gGc>gAc		marker of proliferation Ki-67							381	360	367					10																	129906979		2203	4300	6503	SO:0001583	missense	4288				cell proliferation	nucleolus	ATP binding|protein C-terminus binding	g.chr10:129906979C>T	X65550	CCDS7659.1, CCDS53588.1	10q26.2	2014-06-12	2013-10-10		ENSG00000148773	ENSG00000148773			7107	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 105"	176741	"antigen identified by monoclonal antibody Ki-67"			2571566, 16206250	Standard	NM_002417		Approved	MIB-, PPP1R105	uc001lke.3	P46013	OTTHUMG00000019255	ENST00000368654.3:c.3125G>A	10.37:g.129906979C>T	ENSP00000357643:p.Gly1042Asp					MKI67_ENST00000368653.3_Missense_Mutation_p.G682D	p.G1042D	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN			13	3500	-		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)	1042		G -> S (in dbSNP:rs2152143).	16 X 122 AA approximate repeats.		Q5VWH2	Missense_Mutation	SNP	ENST00000368654.3	37	c.3125G>A	CCDS7659.1	.	.	.	.	.	.	.	.	.	.	C	12.31	1.899375	0.33535	.	.	ENSG00000148773	ENST00000368654;ENST00000368653;ENST00000537609	T;T	0.02197	4.4;4.4	2.17	1.19	0.21007	.	.	.	.	.	T	0.04363	0.0120	L	0.53249	1.67	0.09310	N	1	P;P;D	0.58268	0.936;0.892;0.982	B;P;P	0.57204	0.373;0.492;0.815	T	0.35919	-0.9769	9	0.12430	T	0.62	.	3.2891	0.06943	0.0:0.519:0.308:0.173	.	1041;682;1042	F5H4V4;P46013-2;P46013	.;.;KI67_HUMAN	D	1042;682;1041	ENSP00000357643:G1042D;ENSP00000357642:G682D	ENSP00000357642:G682D	G	-	2	0	MKI67	129796969	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-1.053000	0.03500	0.453000	0.26858	0.561000	0.74099	GGC		0.507	MKI67-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050999.1	NM_002417		6	724	0	0	0	1	0	6	724					T	129906979	C	T	129906979	3	4	82	1	0	0	0	0	1	0	0	0	9598	739	26	3	6657	3	MKI67	10	129906979	Missense_Mutation	SNP	C	TCGA-EJ-7312-01B-21D-A32B-08	56348829	129906979	5627768	21	4260											
OR52L1	338751	broad.mit.edu	37	chr11	6007581	6007581	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	catatgttcacaataggcatGgcctatgatggtggcttggc	9	12	12	8	0	1	1	1	1	0	0	1	1	1	1	1	5	0	3	1	5	4	5			TCGA-EJ-7312-01B-21D-A32B-08	TCGA-EJ-7312-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95b6d4db-b129-4065-a0d4-923c41a0d7b7	ae7020ae-a05c-4600-8e4f-566529e96967	g.chr11:6007581G>T	ENST00000332249.4	-	1	634	c.580C>A	c.(580-582)Cat>Aat	p.H194N		NM_001005173.2	NP_001005173.2	Q8NGH7	O52L1_HUMAN	olfactory receptor, family 52, subfamily L, member 1	194						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(11)|pancreas(1)|skin(3)|soft_tissue(1)	30		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.98e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CAATAGGCATGGCCTATGATG	0.488																																					Melanoma(121;653 1666 10547 22796 51255)	ENST00000332249.4																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(11)|pancreas(1)|skin(3)|soft_tissue(1)	30						c.(580-582)Cat>Aat		olfactory receptor, family 52, subfamily L, member 1							109	100	103					11																	6007581		1957	4145	6102	SO:0001583	missense	338751				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:6007581G>T	AB065819	CCDS44529.1	11p15.4	2012-08-09			ENSG00000183313	ENSG00000183313		"GPCR / Class A : Olfactory receptors"	14785	protein-coding gene	gene with protein product							Standard	NM_001005173		Approved		uc001mcd.2	Q8NGH7	OTTHUMG00000165374	ENST00000332249.4:c.580C>A	11.37:g.6007581G>T	ENSP00000330338:p.His194Asn						p.H194N	NM_001005173.2	NP_001005173.2	Q8NGH7	O52L1_HUMAN		Epithelial(150;1.98e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	634	-		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)	194					B2RPA6|Q6IFK9	Missense_Mutation	SNP	ENST00000332249.4	37	c.580C>A	CCDS44529.1	.	.	.	.	.	.	.	.	.	.	G	12.22	1.873334	0.33069	.	.	ENSG00000183313	ENST00000332249	T	0.00123	8.7	3.73	3.73	0.42828	GPCR, rhodopsin-like superfamily (1);	0.000000	0.45126	D	0.000388	T	0.00524	0.0017	M	0.86097	2.795	0.38908	D	0.957464	D	0.69078	0.997	D	0.79108	0.992	T	0.75022	-0.3464	10	0.87932	D	0	.	14.4226	0.67193	0.0:0.0:1.0:0.0	.	194	Q8NGH7	O52L1_HUMAN	N	194	ENSP00000330338:H194N	ENSP00000330338:H194N	H	-	1	0	OR52L1	5964157	0.999000	0.42202	0.993000	0.49108	0.078000	0.17371	3.058000	0.49939	1.786000	0.52430	0.313000	0.20887	CAT		0.488	OR52L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383754.1	NM_001005173		60	146	1	0	4.64219e-42	1	5.42779e-42	60	146					T	6007581	G	T	6007581	3	4	82	1	0	0	0	0	1	0	0	0	11125	1348	47	5	413	5	OR52L1	11	6007581	Missense_Mutation	SNP	G	TCGA-EJ-7312-01B-21D-A32B-08		6007581	128998935	22	4261											
ACCSL	390110	broad.mit.edu	37	chr11	44076793	44076793	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agatgagatttacatgctgtCtgtgtttgatgaatccatca	11	15	9	6	0	2	4	1	3	1	2	3	5	3	4	1	0	2	2	1	0	2	3			TCGA-EJ-7312-01B-21D-A32B-08	TCGA-EJ-7312-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95b6d4db-b129-4065-a0d4-923c41a0d7b7	ae7020ae-a05c-4600-8e4f-566529e96967	g.chr11:44076793C>A	ENST00000378832.1	+	9	1147	c.1091C>A	c.(1090-1092)tCt>tAt	p.S364Y		NM_001031854.2	NP_001027025.2	Q4AC99	1A1L2_HUMAN	1-aminocyclopropane-1-carboxylate synthase homolog (Arabidopsis)(non-functional)-like	364					biosynthetic process (GO:0009058)		catalytic activity (GO:0003824)|pyridoxal phosphate binding (GO:0030170)			central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(14)|ovary(5)|pancreas(1)|skin(2)	34						TACATGCTGTCTGTGTTTGAT	0.393																																						ENST00000378832.1																			0				central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(14)|ovary(5)|pancreas(1)|skin(2)	34						c.(1090-1092)tCt>tAt		1-aminocyclopropane-1-carboxylate synthase homolog (Arabidopsis)(non-functional)-like							117	109	112					11																	44076793		1931	4146	6077	SO:0001583	missense	390110						1-aminocyclopropane-1-carboxylate synthase activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups	g.chr11:44076793C>A		CCDS41636.1	11p11.2	2008-11-26			ENSG00000205126	ENSG00000205126			34391	protein-coding gene	gene with protein product							Standard	NM_001031854		Approved		uc001mxw.1	Q4AC99	OTTHUMG00000166426	ENST00000378832.1:c.1091C>A	11.37:g.44076793C>A	ENSP00000368109:p.Ser364Tyr						p.S364Y	NM_001031854.2	NP_001027025.2	Q4AC99	1A1L2_HUMAN			9	1147	+			364						Missense_Mutation	SNP	ENST00000378832.1	37	c.1091C>A	CCDS41636.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.973971	0.74246	.	.	ENSG00000205126	ENST00000378832	D	0.90385	-2.66	4.14	4.14	0.48551	Aminotransferase, class I/classII (1);Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.204109	0.43747	D	0.000539	D	0.95611	0.8573	M	0.89095	3.005	0.58432	D	0.999998	D	0.89917	1.0	D	0.80764	0.994	D	0.96282	0.9207	10	0.87932	D	0	-4.672	14.3224	0.66496	0.0:1.0:0.0:0.0	.	364	Q4AC99	1A1L2_HUMAN	Y	364	ENSP00000368109:S364Y	ENSP00000368109:S364Y	S	+	2	0	ACCSL	44033369	1.000000	0.71417	0.997000	0.53966	0.990000	0.78478	6.441000	0.73439	2.291000	0.77112	0.655000	0.94253	TCT		0.393	ACCSL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389717.1	NM_001031854		21	51	1	0	1.9806e-07	1	2.15036e-07	21	51					A	44076793	C	A	44076793	3	1	82	1	0	0	0	0	1	0	0	0	134	913	32	5	1125	5	ACCSL	11	44076793	Missense_Mutation	SNP	C	TCGA-EJ-7312-01B-21D-A32B-08	38069212	44076793	90929723	23	4262											
DLG2	1740	broad.mit.edu	37	chr11	83195218	83195218	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctctgctccttgttcttgtaGaatgggaattttcgtgaaaa	9	16	9	7	1	2	2	0	1	2	1	4	3	3	3	1	1	1	3	1	1	5	6			TCGA-EJ-7312-01B-21D-A32B-08	TCGA-EJ-7312-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95b6d4db-b129-4065-a0d4-923c41a0d7b7	ae7020ae-a05c-4600-8e4f-566529e96967	g.chr11:83195218G>A	ENST00000398309.2	-	17	2402	c.1932C>T	c.(1930-1932)ttC>ttT	p.F644F	DLG2_ENST00000524982.1_Intron|DLG2_ENST00000376106.3_Intron|DLG2_ENST00000280241.8_Silent_p.F683F|DLG2_ENST00000426717.2_Intron|DLG2_ENST00000543673.1_Silent_p.F749F|DLG2_ENST00000418306.2_Intron|DLG2_ENST00000376104.2_Silent_p.F749F|DLG2_ENST00000404783.3_Intron|DLG2_ENST00000537455.1_Intron|DLG2_ENST00000330014.6_Intron|DLG2_ENST00000398304.1_Intron|DLG2_ENST00000532653.1_Intron|DLG2_ENST00000531015.1_Silent_p.F611F	NM_001364.3	NP_001355.2	Q14168	MPP2_HUMAN	discs, large homolog 2 (Drosophila)	350					nucleotide phosphorylation (GO:0046939)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	guanylate kinase activity (GO:0004385)			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(11)|lung(35)|ovary(3)|pancreas(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	71		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)				TGTTCTTGTAGAATGGGAATT	0.393																																						ENST00000398309.2																			0				breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(11)|lung(35)|ovary(3)|pancreas(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	71						c.(1930-1932)ttC>ttT		discs, large homolog 2 (Drosophila)							123	126	125					11																	83195218		2195	4299	6494	SO:0001819	synonymous_variant	1740					cell junction|postsynaptic density|postsynaptic membrane	guanylate kinase activity|protein binding	g.chr11:83195218G>A	U32376	CCDS41696.1, CCDS44690.1, CCDS44691.1, CCDS44692.1, CCDS55782.1, CCDS73357.1	11q21	2012-04-17	2008-12-15		ENSG00000150672	ENSG00000150672		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	2901	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 58"	603583	"discs, large homolog 2, chapsyn-110 (Drosophila)"			8755482, 9806853	Standard	NM_001142702		Approved	PSD-93, PSD93, chapsyn-110, PPP1R58	uc001pak.2	Q15700	OTTHUMG00000134309	ENST00000398309.2:c.1932C>T	11.37:g.83195218G>A						DLG2_ENST00000280241.8_Silent_p.F683F|DLG2_ENST00000418306.2_Intron|DLG2_ENST00000398304.1_Intron|DLG2_ENST00000543673.1_Silent_p.F749F|DLG2_ENST00000376106.3_Intron|DLG2_ENST00000537455.1_Intron|DLG2_ENST00000404783.3_Intron|DLG2_ENST00000330014.6_Intron|DLG2_ENST00000532653.1_Intron|DLG2_ENST00000524982.1_Intron|DLG2_ENST00000376104.2_Silent_p.F749F|DLG2_ENST00000426717.2_Intron|DLG2_ENST00000531015.1_Silent_p.F611F	p.F644F	NM_001364.3	NP_001355.2	Q15700	DLG2_HUMAN			17	2402	-		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)	644					B4DGE9|B4DRJ0|B7Z3G8|E7EV80|E7EV91|E7EX01|Q53ES9|Q5CZB9|Q9BQJ2	Silent	SNP	ENST00000398309.2	37	c.1932C>T	CCDS41696.1																																																																																				0.393	DLG2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000259243.3	NM_001364		35	138	0	0	0	1	0	35	138					A	83195218	G	A	83195218	2	1	82	1	0	0	0	0	0	0	0	1	4555	933	33	3		3	DLG2	11	83195218	Silent	SNP	G	TCGA-EJ-7312-01B-21D-A32B-08	39118425	83195218	51811298	24	4263											
TYR	7299	broad.mit.edu	37	chr11	88911727	88911727	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agagacattgattttgcccaTgaagcaccagcttttctgcc	10	12	8	11	0	1	3	0	2	1	1	1	4	1	3	3	0	4	2	3	0	1	5			TCGA-EJ-7312-01B-21D-A32B-08	TCGA-EJ-7312-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95b6d4db-b129-4065-a0d4-923c41a0d7b7	ae7020ae-a05c-4600-8e4f-566529e96967	g.chr11:88911727T>C	ENST00000263321.5	+	1	1108	c.606T>C	c.(604-606)caT>caC	p.H202H	TYR_ENST00000526139.1_3'UTR	NM_000372.4	NP_000363.1	P14679	TYRO_HUMAN	tyrosinase	202					cell proliferation (GO:0008283)|eye pigment biosynthetic process (GO:0006726)|melanin biosynthetic process from tyrosine (GO:0006583)|thymus development (GO:0048538)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|Golgi-associated vesicle (GO:0005798)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|melanosome (GO:0042470)|perinuclear region of cytoplasm (GO:0048471)	copper ion binding (GO:0005507)|monophenol monooxygenase activity (GO:0004503)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48		Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.0033)			Azelaic Acid(DB00548)|Mimosine(DB01055)|Monobenzone(DB00600)	ATTTTGCCCATGAAGCACCAG	0.418																																						ENST00000263321.5																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						c.(604-606)caT>caC		tyrosinase	Azelaic Acid(DB00548)|Mimosine(DB01055)|NADH(DB00157)						176	168	171					11																	88911727		2201	4299	6500	SO:0001819	synonymous_variant	7299				eye pigment biosynthetic process|melanin biosynthetic process from tyrosine|visual perception	Golgi-associated vesicle|integral to membrane|lysosome|melanosome membrane|perinuclear region of cytoplasm	copper ion binding|monophenol monooxygenase activity|protein heterodimerization activity|protein homodimerization activity	g.chr11:88911727T>C	M27160	CCDS8284.1	11q14.3	2013-09-27	2012-09-28		ENSG00000077498	ENSG00000077498	1.14.18.1		12442	protein-coding gene	gene with protein product	"oculocutaneous albinism IA"	606933					Standard	NM_000372		Approved	OCAIA, OCA1A, OCA1	uc001pcs.3	P14679	OTTHUMG00000167294	ENST00000263321.5:c.606T>C	11.37:g.88911727T>C						TYR_ENST00000526139.1_3'UTR	p.H202H	NM_000372.4	NP_000363.1	P14679	TYRO_HUMAN			1	1108	+		Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.0033)	202					Q15675|Q15676|Q15680|Q8TAK4|Q9BYY0|Q9BZX1	Silent	SNP	ENST00000263321.5	37	c.606T>C	CCDS8284.1																																																																																				0.418	TYR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394045.2	NM_000372		6	147	0	0	0	1	0	6	147					C	88911727	T	C	88911727	2	2	82	1	0	0	0	0	0	0	0	1	16810	1461	51	4		4	TYR	11	88911727	Silent	SNP	T	TCGA-EJ-7312-01B-21D-A32B-08	5716509	88911727	46094789	25	4264											
CACNA2D4	93589	broad.mit.edu	37	chr12	1988172	1988172	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tctcagggccacatctgagcCcaccacacccaggagaatgc	11	5	9	16	0	2	2	1	1	2	1	3	3	2	2	4	2	2	0	4	2	1	0			TCGA-EJ-7312-01B-21D-A32B-08	TCGA-EJ-7312-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95b6d4db-b129-4065-a0d4-923c41a0d7b7	ae7020ae-a05c-4600-8e4f-566529e96967	g.chr12:1988172C>T	ENST00000382722.5	-	15	1956	c.1594G>A	c.(1594-1596)Ggc>Agc	p.G532S	CACNA2D4_ENST00000588077.1_Missense_Mutation_p.G468S|CACNA2D4_ENST00000587995.1_Missense_Mutation_p.G532S|CACNA2D4_ENST00000585732.1_Missense_Mutation_p.G417S|CACNA2D4_ENST00000586184.1_Missense_Mutation_p.G532S|CACNA2D4_ENST00000585708.1_Missense_Mutation_p.G468S	NM_172364.4	NP_758952.4	Q7Z3S7	CA2D4_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 4	532	Cache.				calcium ion transmembrane transport (GO:0070588)|detection of light stimulus involved in visual perception (GO:0050908)	voltage-gated calcium channel complex (GO:0005891)	metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			endometrium(3)|kidney(2)|large_intestine(1)|liver(1)|lung(27)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	39	Ovarian(42;0.107)	Myeloproliferative disorder(1001;0.206)	OV - Ovarian serous cystadenocarcinoma(31;0.00113)	Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451)		ACATCTGAGCCCACCACACCC	0.602																																					Colon(2;101 179 21030 23310 28141)	ENST00000382722.5																			0				endometrium(3)|kidney(2)|large_intestine(1)|liver(1)|lung(27)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	39						c.(1594-1596)Ggc>Agc		calcium channel, voltage-dependent, alpha 2/delta subunit 4							43	49	47					12																	1988172		2025	4181	6206	SO:0001583	missense	93589					integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity	g.chr12:1988172C>T	AF516695	CCDS44785.1	12p13.33	2003-03-05			ENSG00000151062	ENSG00000151062		"Calcium channel subunits"	20202	protein-coding gene	gene with protein product		608171				12181424	Standard	NM_172364		Approved		uc021qsx.1	Q7Z3S7	OTTHUMG00000168111	ENST00000382722.5:c.1594G>A	12.37:g.1988172C>T	ENSP00000372169:p.Gly532Ser					CACNA2D4_ENST00000585708.1_Missense_Mutation_p.G468S|CACNA2D4_ENST00000585732.1_Missense_Mutation_p.G417S|CACNA2D4_ENST00000586184.1_Missense_Mutation_p.G532S|CACNA2D4_ENST00000588077.1_Missense_Mutation_p.G468S|CACNA2D4_ENST00000587995.1_Missense_Mutation_p.G532S	p.G532S	NM_172364.4	NP_758952.4	Q7Z3S7	CA2D4_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00113)	Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451)	15	1956	-	Ovarian(42;0.107)	Myeloproliferative disorder(1001;0.206)	532			Cache.		Q7Z3S8|Q86XZ5|Q8IZS9	Missense_Mutation	SNP	ENST00000382722.5	37	c.1594G>A	CCDS44785.1	.	.	.	.	.	.	.	.	.	.	C	35	5.546179	0.96488	.	.	ENSG00000151062	ENST00000456077;ENST00000280663;ENST00000382722	T	0.25579	1.79	5.08	5.08	0.68730	Cache (1);	0.000000	0.85682	D	0.000000	T	0.54727	0.1876	M	0.79475	2.455	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.97110	0.993;1.0	T	0.60692	-0.7213	10	0.87932	D	0	.	18.4788	0.90804	0.0:1.0:0.0:0.0	.	532;532	Q7Z3S7-2;Q7Z3S7	.;CA2D4_HUMAN	S	468;532;532	ENSP00000372169:G532S	ENSP00000280663:G532S	G	-	1	0	CACNA2D4	1858433	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	7.818000	0.86416	2.364000	0.80123	0.655000	0.94253	GGC		0.602	CACNA2D4-001	KNOWN	non_canonical_U12|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000398230.2			20	44	0	0	0	1	0	20	44					T	1988172	C	T	1988172	3	4	82	1	0	0	0	0	1	0	0	0	2551	623	22	3	1915	3	CACNA2D4	12	1988172	Missense_Mutation	SNP	C	TCGA-EJ-7312-01B-21D-A32B-08		1988172	131863723	26	4265											
CLEC4A	50856	broad.mit.edu	37	chr12	8289395	8289395	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ccccctcaggatttcatcttCcagaatctgcaagaagaatc	12	10	6	13	0	4	3	2	0	2	3	6	4	5	4	3	1	1	1	3	1	4	2			TCGA-EJ-7312-01B-21D-A32B-08	TCGA-EJ-7312-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95b6d4db-b129-4065-a0d4-923c41a0d7b7	ae7020ae-a05c-4600-8e4f-566529e96967	g.chr12:8289395C>T	ENST00000229332.5	+	5	709	c.462C>T	c.(460-462)ttC>ttT	p.F154F	CLEC4A_ENST00000360500.3_Silent_p.F115F|CLEC4A_ENST00000352620.3_Silent_p.F121F|CLEC4A_ENST00000345999.3_Silent_p.F82F	NM_016184.3|NM_194447.2|NM_194450.2	NP_057268.1|NP_919429.2|NP_919432.1	Q9UMR7	CLC4A_HUMAN	C-type lectin domain family 4, member A	154	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|innate immune response (GO:0045087)	integral component of plasma membrane (GO:0005887)	carbohydrate binding (GO:0030246)|transmembrane signaling receptor activity (GO:0004888)			cervix(1)|endometrium(3)|large_intestine(2)|lung(4)|prostate(1)	11				Kidney(36;0.0915)		ATTTCATCTTCCAGAATCTGC	0.413																																						ENST00000229332.5																			0				cervix(1)|endometrium(3)|large_intestine(2)|lung(4)|prostate(1)	11						c.(460-462)ttC>ttT		C-type lectin domain family 4, member A							76	80	79					12																	8289395		2203	4300	6503	SO:0001819	synonymous_variant	50856				cell adhesion|cell surface receptor linked signaling pathway|innate immune response	integral to plasma membrane	sugar binding|transmembrane receptor activity	g.chr12:8289395C>T	AJ133532	CCDS8590.1, CCDS8591.1, CCDS8592.1, CCDS41745.1	12p13	2005-02-09	2005-02-09	2005-02-09	ENSG00000111729	ENSG00000111729		"C-type lectin domain containing"	13257	protein-coding gene	gene with protein product		605306	"C-type (calcium dependent, carbohydrate-recognition domain) lectin, superfamily member 6"	CLECSF6		10438934	Standard	NM_016184		Approved	DCIR, DDB27	uc001qtz.1	Q9UMR7	OTTHUMG00000168571	ENST00000229332.5:c.462C>T	12.37:g.8289395C>T						CLEC4A_ENST00000360500.3_Silent_p.F115F|CLEC4A_ENST00000352620.3_Silent_p.F121F|CLEC4A_ENST00000345999.3_Silent_p.F82F	p.F154F	NM_016184.3|NM_194447.2|NM_194450.2	NP_057268.1|NP_919429.2|NP_919432.1	Q9UMR7	CLC4A_HUMAN		Kidney(36;0.0915)	5	709	+			154			C-type lectin.		Q17R69|Q8WXW9|Q9H2Z9|Q9NS33|Q9UI34	Silent	SNP	ENST00000229332.5	37	c.462C>T	CCDS8590.1	.	.	.	.	.	.	.	.	.	.	C	4.329	0.060348	0.08339	.	.	ENSG00000111729	ENST00000546339	T	0.54866	0.55	3.89	1.04	0.20106	.	.	.	.	.	T	0.46151	0.1378	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.45775	-0.9238	6	0.87932	D	0	.	3.3853	0.07269	0.2018:0.5796:0.0:0.2185	.	.	.	.	S	60	ENSP00000443082:P60S	ENSP00000443082:P60S	P	+	1	0	CLEC4A	8180662	0.000000	0.05858	0.000000	0.03702	0.019000	0.09904	-0.138000	0.10374	0.218000	0.20820	-0.188000	0.12872	CCA		0.413	CLEC4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400257.1	NM_194450		35	51	0	0	0	1	0	35	51					T	8289395	C	T	8289395	2	4	82	1	0	0	0	0	0	0	0	1	3512	854	30	3		3	CLEC4A	12	8289395	Silent	SNP	C	TCGA-EJ-7312-01B-21D-A32B-08	6301223	8289395	125562500	27	4266											
GLS2	27165	broad.mit.edu	37	chr12	56868364	56868364	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccagagaagtcatacatgccGcaggaatgcatgaggctgag	13	6	13	9	1	1	3	1	2	0	1	1	5	1	4	2	2	3	3	2	2	3	1	rs200425538		TCGA-EJ-7312-01B-21D-A32B-08	TCGA-EJ-7312-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95b6d4db-b129-4065-a0d4-923c41a0d7b7	ae7020ae-a05c-4600-8e4f-566529e96967	g.chr12:56868364G>A	ENST00000311966.4	-	12	1466	c.1188C>T	c.(1186-1188)tgC>tgT	p.C396C	GLS2_ENST00000476991.1_5'UTR	NM_013267.2	NP_037399.2	Q9UI32	GLSL_HUMAN	glutaminase 2 (liver, mitochondrial)	396					cellular amino acid biosynthetic process (GO:0008652)|cellular amino acid metabolic process (GO:0006520)|cellular nitrogen compound metabolic process (GO:0034641)|glutamate secretion (GO:0014047)|glutamine metabolic process (GO:0006541)|neurotransmitter secretion (GO:0007269)|reactive oxygen species metabolic process (GO:0072593)|regulation of apoptotic process (GO:0042981)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	glutaminase activity (GO:0004359)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1)	13					L-Glutamine(DB00130)	CATACATGCCGCAGGAATGCA	0.562													G|||	1	0.000199681	0	0	5008	,	,		21825	0.001		0	False		,,,				2504	0					ENST00000311966.4																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1)	13						c.(1186-1188)tgC>tgT		glutaminase 2 (liver, mitochondrial)	L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)						96	88	91					12																	56868364		2203	4300	6503	SO:0001819	synonymous_variant	27165				cellular amino acid biosynthetic process|glutamate secretion|glutamine metabolic process|neurotransmitter secretion	mitochondrial matrix	glutaminase activity|protein binding	g.chr12:56868364G>A		CCDS8921.1, CCDS73482.1	12q13	2013-01-10			ENSG00000135423	ENSG00000135423		"Ankyrin repeat domain containing"	29570	protein-coding gene	gene with protein product		606365				11130979, 10620514	Standard	NM_013267		Approved	GA, GLS, LGA, hLGA	uc001slj.3	Q9UI32	OTTHUMG00000140379	ENST00000311966.4:c.1188C>T	12.37:g.56868364G>A						GLS2_ENST00000476991.1_5'UTR	p.C396C	NM_013267.2	NP_037399.2	Q9UI32	GLSL_HUMAN			12	1466	-			396					B7Z8Q9|Q8IX91|Q9NYY2|Q9UI31	Silent	SNP	ENST00000311966.4	37	c.1188C>T	CCDS8921.1																																																																																				0.562	GLS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277113.1	NM_013267		5	134	0	0	0	1	0	5	134					A	56868364	G	A	56868364	2	1	82	1	0	0	0	0	0	0	0	1	6464	1079	38	1		1	GLS2	12	56868364	Silent	SNP	G	TCGA-EJ-7312-01B-21D-A32B-08	48578969	56868364	76983531	28	4267											
ZFC3H1	196441	broad.mit.edu	37	chr12	72057183	72057183	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgatgacgaggaagagccacCgcctccgccagatccaccgc	10	3	11	17	5	0	3	0	1	0	2	2	6	2	4	7	1	1	0	7	1	1	0			TCGA-EJ-7312-01B-21D-A32B-08	TCGA-EJ-7312-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95b6d4db-b129-4065-a0d4-923c41a0d7b7	ae7020ae-a05c-4600-8e4f-566529e96967	g.chr12:72057183C>T	ENST00000378743.3	-	1	566	c.208G>A	c.(208-210)Ggt>Agt	p.G70S	ZFC3H1_ENST00000549407.1_5'Flank|ZFC3H1_ENST00000548100.1_Missense_Mutation_p.G70S|THAP2_ENST00000547843.1_5'Flank|ZFC3H1_ENST00000552037.1_Missense_Mutation_p.G70S|THAP2_ENST00000308086.2_5'UTR	NM_144982.4	NP_659419.3	O60293	ZC3H1_HUMAN	zinc finger, C3H1-type containing	70	Ser-rich.				RNA processing (GO:0006396)	extracellular space (GO:0005615)|intracellular (GO:0005622)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						GAAGAGCCACCGCCTCCGCCA	0.687											OREG0021993	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000378743.3																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						c.(208-210)Ggt>Agt		zinc finger, C3H1-type containing							42	51	48					12																	72057183		2017	4184	6201	SO:0001583	missense	196441				RNA processing	intracellular	metal ion binding	g.chr12:72057183C>T	AB011118	CCDS41813.1	12q21.1	2013-01-25	2008-10-01	2008-10-01		ENSG00000133858		"Zinc finger, C3H1-type containing"	28328	protein-coding gene	gene with protein product			"proline/serine-rich coiled-coil 2", "coiled-coil domain containing 131"	PSRC2, CCDC131		9628581	Standard	NM_144982		Approved	MGC23401, KIAA0546	uc001swo.2	O60293	OTTHUMG00000169545	ENST00000378743.3:c.208G>A	12.37:g.72057183C>T	ENSP00000368017:p.Gly70Ser		OREG0021993	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1134	THAP2_ENST00000308086.2_5'UTR|ZFC3H1_ENST00000552037.1_Missense_Mutation_p.G70S|ZFC3H1_ENST00000548100.1_Missense_Mutation_p.G70S	p.G70S	NM_144982.4	NP_659419.3	O60293	ZC3H1_HUMAN			1	566	-			70			Ser-rich.		Q6GMU1|Q6P2S9|Q6ZV36|Q96BE7	Missense_Mutation	SNP	ENST00000378743.3	37	c.208G>A	CCDS41813.1	.	.	.	.	.	.	.	.	.	.	C	17.11	3.306510	0.60305	.	.	ENSG00000133858	ENST00000378743;ENST00000548100;ENST00000552037	T	0.36878	1.23	4.55	4.55	0.56014	.	0.213391	0.32416	N	0.006122	T	0.18383	0.0441	N	0.14661	0.345	0.80722	D	1	B;B;B	0.24533	0.065;0.007;0.105	B;B;B	0.12837	0.008;0.005;0.006	T	0.08493	-1.0719	10	0.25106	T	0.35	.	7.2951	0.26389	0.1685:0.7421:0.0:0.0894	.	70;70;70	G3V1X1;O60293-4;O60293	.;.;ZC3H1_HUMAN	S	70	ENSP00000368017:G70S	ENSP00000368017:G70S	G	-	1	0	ZFC3H1	70343450	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	2.289000	0.43523	2.368000	0.80403	0.455000	0.32223	GGT		0.687	ZFC3H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404751.1	NM_144982		4	172	0	0	0	1	0	4	172					T	72057183	C	T	72057183	3	4	82	1	0	0	0	0	1	0	0	0	17630	652	23	2	5901	2	ZFC3H1	12	72057183	Missense_Mutation	SNP	C	TCGA-EJ-7312-01B-21D-A32B-08	15188819	72057183	61794712	29	4268											
NAV3	89795	broad.mit.edu	37	chr12	78362364	78362364	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtttatctcgctacaagcagCaacaacaccatcaacaacag	16	7	5	13	1	2	0	1	0	1	0	3	0	2	0	1	0	7	4	1	0	7	3			TCGA-EJ-7312-01B-21D-A32B-08	TCGA-EJ-7312-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95b6d4db-b129-4065-a0d4-923c41a0d7b7	ae7020ae-a05c-4600-8e4f-566529e96967	g.chr12:78362364C>T	ENST00000397909.2	+	5	726	c.553C>T	c.(553-555)Caa>Taa	p.Q185*	NAV3_ENST00000228327.6_Nonsense_Mutation_p.Q185*|NAV3_ENST00000266692.7_Nonsense_Mutation_p.Q185*|NAV3_ENST00000536525.2_Nonsense_Mutation_p.Q185*			Q8IVL0	NAV3_HUMAN	neuron navigator 3	185						membrane (GO:0016020)|nuclear envelope (GO:0005635)				NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						CTACAAGCAGCAACAACACCA	0.413										HNSCC(70;0.22)																												ENST00000397909.2																			0				NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						c.(553-555)Caa>Taa		neuron navigator 3							82	87	85					12																	78362364		1976	4157	6133	SO:0001587	stop_gained	89795					nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity	g.chr12:78362364C>T	AB023155	CCDS41815.1, CCDS66432.1	12q14.3	2008-08-05				ENSG00000067798			15998	protein-coding gene	gene with protein product	"pore membrane and/or filament interacting like protein 1", "steerin 3"	611629				12079279, 12062803	Standard	XM_005269215		Approved	KIAA0938, POMFIL1	uc001syo.3	Q8IVL0	OTTHUMG00000170001	ENST00000397909.2:c.553C>T	12.37:g.78362364C>T	ENSP00000381007:p.Gln185*	HNSCC(70;0.22)				NAV3_ENST00000228327.6_Nonsense_Mutation_p.Q185*|NAV3_ENST00000266692.7_Nonsense_Mutation_p.Q185*|NAV3_ENST00000536525.2_Nonsense_Mutation_p.Q185*	p.Q185*			Q8IVL0	NAV3_HUMAN			5	726	+			185					Q8NFW7|Q9Y2E7	Nonsense_Mutation	SNP	ENST00000397909.2	37	c.553C>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	40|40	8.036395|8.036395	0.98621|0.98621	.|.	.|.	ENSG00000067798|ENSG00000067798	ENST00000550503|ENST00000549464;ENST00000536525;ENST00000397909;ENST00000228327;ENST00000266692	.|.	.|.	.|.	5.56|5.56	5.56|5.56	0.83823|0.83823	.|.	.|0.000000	.|0.36303	.|U	.|0.002670	T|.	0.73659|.	0.3615|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.69331|.	-0.5173|.	4|.	.|0.32370	.|T	.|0.25	-12.0072|-12.0072	19.5947|19.5947	0.95530|0.95530	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	V|X	31|185	.|.	.|ENSP00000228327:Q185X	A|Q	+|+	2|1	0|0	NAV3|NAV3	76886495|76886495	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.962000|0.962000	0.63368|0.63368	7.279000|7.279000	0.78599|0.78599	2.636000|2.636000	0.89361|0.89361	0.632000|0.632000	0.83419|0.83419	GCA|CAA		0.413	NAV3-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000406812.1	NM_001024383		35	89	0	0	0	1	0	35	89					T	78362364	C	T	78362364	4	4	82	1	0	0	0	0	0	1	0	0	10185	711	25	3	571	3	NAV3	12	78362364	Nonsense_Mutation	SNP	C	TCGA-EJ-7312-01B-21D-A32B-08	6305181	78362364	55489531	30	4269											
LRCH1	23143	broad.mit.edu	37	chr13	47266692	47266692	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cttctgacgaagacactgttAgcctcaatgtgccaatgtca	11	11	8	11	1	3	2	2	1	1	1	3	3	3	2	2	0	2	1	2	0	4	2			TCGA-EJ-7312-01B-21D-A32B-08	TCGA-EJ-7312-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95b6d4db-b129-4065-a0d4-923c41a0d7b7	ae7020ae-a05c-4600-8e4f-566529e96967	g.chr13:47266692A>G	ENST00000389798.3	+	8	1233	c.1036A>G	c.(1036-1038)Agc>Ggc	p.S346G	LRCH1_ENST00000389797.3_Missense_Mutation_p.S346G|LRCH1_ENST00000311191.6_Missense_Mutation_p.S346G	NM_015116.2	NP_055931	Q9Y2L9	LRCH1_HUMAN	leucine-rich repeats and calponin homology (CH) domain containing 1	346										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26		all_lung(13;5.61e-07)|Lung NSC(96;0.000117)|Breast(56;0.000141)|Prostate(109;0.0029)|Lung SC(185;0.0367)|Myeloproliferative disorder(33;0.0505)|Hepatocellular(98;0.0556)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000123)		AGACACTGTTAGCCTCAATGT	0.393																																						ENST00000311191.6																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26						c.(1036-1038)Agc>Ggc		leucine-rich repeats and calponin homology (CH) domain containing 1							174	141	152					13																	47266692		2203	4300	6503	SO:0001583	missense	23143							g.chr13:47266692A>G	AB023233	CCDS31972.1, CCDS53865.1, CCDS53866.1	13q14.11	2008-02-05	2004-05-27	2004-05-28	ENSG00000136141	ENSG00000136141			20309	protein-coding gene	gene with protein product		610368	"calponin homology (CH) domain containing 1"	CHDC1		10231032	Standard	NM_015116		Approved	KIAA1016	uc001vbk.3	Q9Y2L9	OTTHUMG00000016877	ENST00000389798.3:c.1036A>G	13.37:g.47266692A>G	ENSP00000374448:p.Ser346Gly					LRCH1_ENST00000389797.3_Missense_Mutation_p.S346G|LRCH1_ENST00000389798.3_Missense_Mutation_p.S346G	p.S346G	NM_001164213.1	NP_001157685.1	Q9Y2L9	LRCH1_HUMAN	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000123)	8	1265	+		all_lung(13;5.61e-07)|Lung NSC(96;0.000117)|Breast(56;0.000141)|Prostate(109;0.0029)|Lung SC(185;0.0367)|Myeloproliferative disorder(33;0.0505)|Hepatocellular(98;0.0556)	346					B7ZLL5|F8W6F0|Q17R43|Q2KHR1|Q5TBU9|Q7Z5F6|Q7Z5F7	Missense_Mutation	SNP	ENST00000389798.3	37	c.1036A>G	CCDS31972.1	.	.	.	.	.	.	.	.	.	.	A	23.6	4.433844	0.83776	.	.	ENSG00000136141	ENST00000311191;ENST00000389798;ENST00000389797;ENST00000463929	T;T;T	0.57107	0.44;0.49;0.42	5.83	5.83	0.93111	.	0.097898	0.64402	D	0.000001	T	0.75140	0.3809	M	0.85373	2.75	0.58432	D	0.999998	D;D;D;D	0.76494	0.992;0.998;0.996;0.999	P;D;P;D	0.79784	0.749;0.948;0.872;0.993	T	0.78122	-0.2327	10	0.51188	T	0.08	-10.3454	15.3939	0.74774	1.0:0.0:0.0:0.0	.	346;346;346;346	Q17R43;Q9Y2L9-2;F8W6F0;Q9Y2L9	.;.;.;LRCH1_HUMAN	G	346;346;346;92	ENSP00000308493:S346G;ENSP00000374448:S346G;ENSP00000374447:S346G	ENSP00000308493:S346G	S	+	1	0	LRCH1	46164693	1.000000	0.71417	0.996000	0.52242	0.812000	0.45895	7.504000	0.81646	2.236000	0.73375	0.533000	0.62120	AGC		0.393	LRCH1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000044824.2	NM_015116		47	119	0	0	0	1	0	47	119					G	47266692	A	G	47266692	3	3	82	1	0	0	0	0	1	0	0	0	8932	420	15	4	1066	4	LRCH1	13	47266692	Missense_Mutation	SNP	A	TCGA-EJ-7312-01B-21D-A32B-08		47266692	67903186	31	4270											
KLF12	11278	broad.mit.edu	37	chr13	74269718	74269718	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cgcacttgaatggcttcactCccgtatgtttgcggtaatgc	7	13	10	11	3	1	1	1	1	0	0	2	1	2	1	1	2	2	5	1	2	3	5			TCGA-EJ-7312-01B-21D-A32B-08	TCGA-EJ-7312-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95b6d4db-b129-4065-a0d4-923c41a0d7b7	ae7020ae-a05c-4600-8e4f-566529e96967	g.chr13:74269718C>A	ENST00000377669.2	-	7	1144	c.1118G>T	c.(1117-1119)gGa>gTa	p.G373V	KLF12_ENST00000377666.4_Missense_Mutation_p.G373V	NM_007249.4	NP_009180.3	Q9Y4X4	KLF12_HUMAN	Kruppel-like factor 12	373					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			central_nervous_system(1)|endometrium(5)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	16		Prostate(6;0.00217)|Breast(118;0.0838)		GBM - Glioblastoma multiforme(99;0.00677)		TGGCTTCACTCCCGTATGTTT	0.527																																						ENST00000377669.2																			0				central_nervous_system(1)|endometrium(5)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	16						c.(1117-1119)gGa>gTa		Kruppel-like factor 12							164	128	140					13																	74269718		2203	4300	6503	SO:0001583	missense	11278				negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding	g.chr13:74269718C>A	AJ243274	CCDS9449.1	13q22	2013-01-08			ENSG00000118922	ENSG00000118922		"Kruppel-like transcription factors", "Zinc fingers, C2H2-type"	6346	protein-coding gene	gene with protein product	"KLF12 zinc finger transcriptional repressor", "AP-2rep transcription factor", "AP-2 repressor"	607531				10704285	Standard	NM_007249		Approved	AP-2rep, HSPC122, AP2REP	uc001vjf.3	Q9Y4X4	OTTHUMG00000017078	ENST00000377669.2:c.1118G>T	13.37:g.74269718C>A	ENSP00000366897:p.Gly373Val					KLF12_ENST00000377666.4_Missense_Mutation_p.G373V	p.G373V	NM_007249.4	NP_009180.3	Q9Y4X4	KLF12_HUMAN		GBM - Glioblastoma multiforme(99;0.00677)	7	1144	-		Prostate(6;0.00217)|Breast(118;0.0838)	373					A8K5T2|L0R3J4|Q5VZM7|Q9UHZ0	Missense_Mutation	SNP	ENST00000377669.2	37	c.1118G>T	CCDS9449.1	.	.	.	.	.	.	.	.	.	.	C	22.2	4.261900	0.80358	.	.	ENSG00000118922	ENST00000377669;ENST00000342812;ENST00000377666	T;T	0.23552	1.9;1.9	6.03	6.03	0.97812	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.58623	0.2135	M	0.82630	2.6	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.60662	-0.7219	10	0.87932	D	0	.	20.5568	0.99304	0.0:1.0:0.0:0.0	.	373	Q9Y4X4	KLF12_HUMAN	V	373	ENSP00000366897:G373V;ENSP00000366894:G373V	ENSP00000344057:G373V	G	-	2	0	KLF12	73167719	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.818000	0.86416	2.861000	0.98227	0.655000	0.94253	GGA		0.527	KLF12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045271.2	NM_007249		30	66	1	0	1.16021e-09	1	1.27791e-09	30	66					A	74269718	C	A	74269718	3	1	82	1	0	0	0	0	1	0	0	0	8340	855	30	5	94	5	KLF12	13	74269718	Missense_Mutation	SNP	C	TCGA-EJ-7312-01B-21D-A32B-08	27003026	74269718	40900160	32	4271											
HDDC3	374659	broad.mit.edu	37	chr15	91475096	91475096	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tacctcctccaccaggcgccGcacttgtgccccaaagtgta	8	8	8	17	2	0	0	0	0	0	0	2	0	2	0	7	1	2	2	7	1	3	3			TCGA-EJ-7312-01B-21D-A32B-08	TCGA-EJ-7312-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95b6d4db-b129-4065-a0d4-923c41a0d7b7	ae7020ae-a05c-4600-8e4f-566529e96967	g.chr15:91475096G>A	ENST00000394272.3	-	3	275	c.247C>T	c.(247-249)Cgg>Tgg	p.R83W	HDDC3_ENST00000559898.1_Missense_Mutation_p.R83W|AC068831.3_ENST00000448987.1_RNA|AC068831.3_ENST00000438890.1_RNA|HDDC3_ENST00000330334.3_Missense_Mutation_p.R83W|UNC45A_ENST00000394275.2_Intron			Q8N4P3	MESH1_HUMAN	HD domain containing 3	83	HD.						guanosine-3',5'-bis(diphosphate) 3'-diphosphatase activity (GO:0008893)|metal ion binding (GO:0046872)			NS(1)|ovary(1)	2	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.189)			ACCAGGCGCCGCACTTGTGCC	0.622											OREG0023475	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000330334.3																			0				NS(1)|ovary(1)	2						c.(247-249)Cgg>Tgg		HD domain containing 3							81	78	79					15																	91475096		2198	4298	6496	SO:0001583	missense	374659						guanosine-3',5'-bis(diphosphate) 3'-diphosphatase activity|metal ion binding|phosphoric diester hydrolase activity	g.chr15:91475096G>A	AK057584	CCDS10366.1, CCDS66866.1	15q26.1	2005-08-22			ENSG00000184508	ENSG00000184508			30522	protein-coding gene	gene with protein product						12477932	Standard	NM_001286451		Approved	MGC45386	uc002bqe.4	Q8N4P3	OTTHUMG00000141260	ENST00000394272.3:c.247C>T	15.37:g.91475096G>A	ENSP00000377814:p.Arg83Trp		OREG0023475	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1282	HDDC3_ENST00000559898.1_Missense_Mutation_p.R83W|UNC45A_ENST00000394275.2_Intron|HDDC3_ENST00000394272.3_Missense_Mutation_p.R83W	p.R83W	NM_198527.2	NP_940929.1	Q8N4P3	MESH1_HUMAN	Lung(145;0.189)		3	252	-	Lung NSC(78;0.0771)|all_lung(78;0.137)		83			HD.			Missense_Mutation	SNP	ENST00000394272.3	37	c.247C>T		.	.	.	.	.	.	.	.	.	.	G	20.9	4.070623	0.76301	.	.	ENSG00000184508	ENST00000394272;ENST00000330334	.	.	.	4.58	3.62	0.41486	Metal-dependent phosphohydrolase, HD domain (1);Metal-dependent phosphohydrolase, HD subdomain (1);	0.128818	0.51477	D	0.000094	T	0.80732	0.4679	M	0.89715	3.055	0.47778	D	0.999517	D;D	0.89917	1.0;1.0	D;D	0.70016	0.967;0.933	D	0.84761	0.0762	9	0.87932	D	0	-2.5768	12.8845	0.58036	0.0:0.0:0.8373:0.1627	.	83;83	Q8N4P3;Q8N4P3-2	MESH1_HUMAN;.	W	83	.	ENSP00000330721:R83W	R	-	1	2	HDDC3	89276100	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	2.195000	0.42677	2.388000	0.81334	0.555000	0.69702	CGG		0.622	HDDC3-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000280403.2	NM_198527		5	144	0	0	0	1	0	5	144					A	91475096	G	A	91475096	3	1	82	1	0	0	0	0	1	0	0	0	7017	1086	38	1	183	1	HDDC3	15	91475096	Missense_Mutation	SNP	G	TCGA-EJ-7312-01B-21D-A32B-08		91475096	11056296	33	4272											
ABCA9	10350	broad.mit.edu	37	chr17	67040650	67040650	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atactcacttctatgatagcAgcattaatggcagcttgaaa	14	12	7	8	0	2	2	1	2	1	0	2	2	2	2	0	1	4	4	0	1	5	6			TCGA-EJ-7312-01B-21D-A32B-08	TCGA-EJ-7312-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95b6d4db-b129-4065-a0d4-923c41a0d7b7	ae7020ae-a05c-4600-8e4f-566529e96967	g.chr17:67040650A>C	ENST00000340001.4	-	5	772	c.561T>G	c.(559-561)gcT>gcG	p.A187A	ABCA9_ENST00000453985.2_Silent_p.A187A|ABCA9_ENST00000370732.2_Silent_p.A187A|ABCA9_ENST00000495634.1_Silent_p.A187A	NM_080283.3	NP_525022.2	Q8IUA7	ABCA9_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 9	187					transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	91	Breast(10;1.47e-12)					CTATGATAGCAGCATTAATGG	0.353																																						ENST00000340001.4																			0				NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	91						c.(559-561)gcT>gcG		ATP-binding cassette, sub-family A (ABC1), member 9							100	98	99					17																	67040650		2203	4300	6503	SO:0001819	synonymous_variant	10350				transport	integral to membrane	ATP binding|ATPase activity	g.chr17:67040650A>C	AF423307	CCDS11681.1	17q24	2012-03-14			ENSG00000154258	ENSG00000154258		"ATP binding cassette transporters / subfamily A"	39	protein-coding gene	gene with protein product		612507					Standard	XM_005256934		Approved	EST640918	uc002jhu.3	Q8IUA7	OTTHUMG00000140371	ENST00000340001.4:c.561T>G	17.37:g.67040650A>C						ABCA9_ENST00000495634.1_Silent_p.A187A|ABCA9_ENST00000453985.2_Silent_p.A187A|ABCA9_ENST00000370732.2_Silent_p.A187A	p.A187A	NM_080283.3	NP_525022.2	Q8IUA7	ABCA9_HUMAN			5	772	-	Breast(10;1.47e-12)		187					Q6P655|Q8N2S4|Q8WWZ5|Q96MD8	Silent	SNP	ENST00000340001.4	37	c.561T>G	CCDS11681.1																																																																																				0.353	ABCA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277072.2	NM_172386		16	46	0	0	0	1	0	16	46					C	67040650	A	C	67040650	2	2	82	1	0	0	0	0	0	0	0	1	39	175	7	5		5	ABCA9	17	67040650	Silent	SNP	A	TCGA-EJ-7312-01B-21D-A32B-08		67040650	14154560	34	4273											
TRIM28	10155	broad.mit.edu	37	chr19	59059081	59059082	+	Splice_Site	INS	-	-	T																															ccaaggaggttcgcagctcgINStaagtgtgggttctggggct																										TCGA-EJ-7312-01B-21D-A32B-08	TCGA-EJ-7312-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95b6d4db-b129-4065-a0d4-923c41a0d7b7	ae7020ae-a05c-4600-8e4f-566529e96967	g.chr19:59059081_59059082insT	ENST00000253024.5	+	5	1128		c.e5+1		TRIM28_ENST00000341753.6_Splice_Site	NM_005762.2	NP_005753.1	Q13263	TIF1B_HUMAN	tripartite motif containing 28						convergent extension involved in axis elongation (GO:0060028)|DNA repair (GO:0006281)|embryonic placenta morphogenesis (GO:0060669)|epithelial to mesenchymal transition (GO:0001837)|gene expression (GO:0010467)|innate immune response (GO:0045087)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of viral release from host cell (GO:1902187)|positive regulation of DNA repair (GO:0045739)|positive regulation of transcription factor import into nucleus (GO:0042993)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autophosphorylation (GO:0046777)|protein oligomerization (GO:0051259)|protein sumoylation (GO:0016925)|protein ubiquitination (GO:0016567)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nuclear euchromatin (GO:0005719)|nuclear heterochromatin (GO:0005720)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|Krueppel-associated box domain binding (GO:0035851)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			biliary_tract(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|urinary_tract(1)	19		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.0434)|all cancers(4;1.39e-13)|Epithelial(4;1.01e-10)|OV - Ovarian serous cystadenocarcinoma(4;2.34e-09)|GBM - Glioblastoma multiforme(193;0.0102)|Lung(386;0.179)		TTCGCAGCTCGTAAGTGTGGGT	0.594																																						ENST00000253024.5																			0				biliary_tract(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|urinary_tract(1)	19						c.e5+1		tripartite motif containing 28																																				SO:0001630	splice_region_variant	10155				epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent	nucleoplasm	chromo shadow domain binding|ligase activity|transcription corepressor activity|zinc ion binding	g.chr19:59059081_59059082insT		CCDS12985.1	19q13.4	2014-06-13	2011-01-25			ENSG00000130726		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers", "Zinc fingers, PHD-type"	16384	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 157"	601742	"tripartite motif-containing 28"			11331580, 11226167	Standard	NM_005762		Approved	TIF1B, KAP1, TF1B, RNF96, PPP1R157	uc002qtg.1	Q13263		ENST00000253024.5:c.839+1->T	19.37:g.59059082_59059082dupT						TRIM28_ENST00000341753.6_Splice_Site		NM_005762.2	NP_005753.1	Q13263	TIF1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.0434)|all cancers(4;1.39e-13)|Epithelial(4;1.01e-10)|OV - Ovarian serous cystadenocarcinoma(4;2.34e-09)|GBM - Glioblastoma multiforme(193;0.0102)|Lung(386;0.179)	5	1128	+		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)						O00677|Q7Z632|Q93040|Q96IM1	Splice_Site	INS	ENST00000253024.5	37		CCDS12985.1																																																																																				0.594	TRIM28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467074.1	NM_005762	Intron	54	121						54	121	---	---	---	---	T	59059082	-	T	59059081	8	5	82	1	0	1	1	0	0	0	1	0	16499	1159	40	0	858	0	TRIM28	19	59059081	Splice_Site	INS	-	TCGA-EJ-7312-01B-21D-A32B-08		59059081	69902	35	4274											
ITCH	83737	broad.mit.edu	37	chr20	33033194	33033194	+	Nonsense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggaatccgtccggaactaTgaacaatggcagctacagcg	12	7	11	11	3	0	1	0	1	0	0	2	3	2	3	2	3	5	2	2	3	6	2			TCGA-EJ-7312-01B-21D-A32B-08	TCGA-EJ-7312-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95b6d4db-b129-4065-a0d4-923c41a0d7b7	ae7020ae-a05c-4600-8e4f-566529e96967	g.chr20:33033194T>G	ENST00000262650.6	+	12	1327	c.1191T>G	c.(1189-1191)taT>taG	p.Y397*	ITCH_ENST00000483727.1_3'UTR|ITCH_ENST00000535650.1_Nonsense_Mutation_p.Y246*|ITCH_ENST00000374864.4_Nonsense_Mutation_p.Y356*			Q96J02	ITCH_HUMAN	itchy E3 ubiquitin protein ligase	397	Required for interaction with FYN.				apoptotic process (GO:0006915)|defense response to virus (GO:0051607)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|negative regulation of apoptotic process (GO:0043066)|negative regulation of defense response to virus (GO:0050687)|negative regulation of JNK cascade (GO:0046329)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of type I interferon production (GO:0032480)|Notch signaling pathway (GO:0007219)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|protein K29-linked ubiquitination (GO:0035519)|protein K48-linked ubiquitination (GO:0070936)|protein K63-linked ubiquitination (GO:0070534)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of cell growth (GO:0001558)|regulation of protein deubiquitination (GO:0090085)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral entry into host cell (GO:0046718)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	CXCR chemokine receptor binding (GO:0045236)|ligase activity (GO:0016874)|ribonucleoprotein complex binding (GO:0043021)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(9)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(13)|skin(1)|upper_aerodigestive_tract(1)	36						TCCGGAACTATGAACAATGGC	0.458																																						ENST00000374864.4																			0				NS(1)|breast(9)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(13)|skin(1)|upper_aerodigestive_tract(1)	36						c.(1066-1068)taT>taG		itchy E3 ubiquitin protein ligase							127	110	116					20																	33033194		2203	4300	6503	SO:0001587	stop_gained	83737				apoptosis|entry of virus into host cell|inflammatory response|innate immune response|negative regulation of apoptosis|negative regulation of defense response to virus|negative regulation of JNK cascade|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|protein K29-linked ubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of cell growth|regulation of protein deubiquitination|response to virus	cytosol|nucleus|plasma membrane	CXCR chemokine receptor binding|ribonucleoprotein binding|ubiquitin-protein ligase activity	g.chr20:33033194T>G	AF095745	CCDS13234.1, CCDS58768.1, CCDS58769.1	20q11.22	2014-09-17	2012-02-23		ENSG00000078747	ENSG00000078747			13890	protein-coding gene	gene with protein product		606409	"itchy (mouse homolog) E3 ubiquitin protein ligase", "itchy E3 ubiquitin protein ligase homolog (mouse)"			11318614	Standard	NM_001257137		Approved	AIP4	uc010geu.2	Q96J02	OTTHUMG00000032300	ENST00000262650.6:c.1191T>G	20.37:g.33033194T>G	ENSP00000262650:p.Tyr397*					ITCH_ENST00000262650.6_Nonsense_Mutation_p.Y397*|ITCH_ENST00000483727.1_3'UTR|ITCH_ENST00000535650.1_Nonsense_Mutation_p.Y246*	p.Y356*	NM_001257137.1|NM_001257138.1|NM_031483.5	NP_001244066.1|NP_001244067.1|NP_113671.3	Q96J02	ITCH_HUMAN			11	1281	+			397			WW 1.		A6NEW4|B4E234|E1P5P3|F5H217|O43584|Q5QP37|Q5TEL0|Q96F66|Q9BY75|Q9H451|Q9H4U5	Nonsense_Mutation	SNP	ENST00000262650.6	37	c.1068T>G	CCDS58768.1	.	.	.	.	.	.	.	.	.	.	T	40	8.194026	0.98699	.	.	ENSG00000078747	ENST00000374864;ENST00000535650;ENST00000262650	.	.	.	4.9	3.8	0.43715	.	0.131674	0.52532	D	0.000064	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.0923	0.42453	0.0:0.0798:0.0:0.9202	.	.	.	.	X	356;246;397	.	ENSP00000262650:Y397X	Y	+	3	2	ITCH	32496855	0.999000	0.42202	1.000000	0.80357	0.994000	0.84299	0.492000	0.22435	0.893000	0.36288	0.519000	0.50382	TAT		0.458	ITCH-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000078783.2			49	48	0	0	0	1	0	49	48					G	33033194	T	G	33033194	4	3	82	1	0	0	0	0	0	1	0	0	7868	1471	51	5	1102	5	ITCH	20	33033194	Nonsense_Mutation	SNP	T	TCGA-EJ-7312-01B-21D-A32B-08		33033194	29992326	36	4275											
ACSS2	55902	broad.mit.edu	37	chr20	33514747	33514747	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gcacctggcttgcctaaaacCcgctcaggtatgttcagagg	9	9	11	12	1	2	1	2	0	0	1	2	1	2	1	3	3	2	5	3	3	3	4			TCGA-EJ-7312-01B-21D-A32B-08	TCGA-EJ-7312-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95b6d4db-b129-4065-a0d4-923c41a0d7b7	ae7020ae-a05c-4600-8e4f-566529e96967	g.chr20:33514747C>T	ENST00000360596.2	+	17	2182	c.1971C>T	c.(1969-1971)acC>acT	p.T657T	ACSS2_ENST00000476922.1_3'UTR|ACSS2_ENST00000336325.4_Silent_p.T607T|ACSS2_ENST00000253382.5_Silent_p.T670T	NM_018677.3	NP_061147.1	Q9NR19	ACSA_HUMAN	acyl-CoA synthetase short-chain family member 2	657					acetate biosynthetic process (GO:0019413)|acetyl-CoA biosynthetic process from acetate (GO:0019427)|ethanol oxidation (GO:0006069)|lipid biosynthetic process (GO:0008610)|propionate biosynthetic process (GO:0019542)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	acetate-CoA ligase activity (GO:0003987)|AMP binding (GO:0016208)|ATP binding (GO:0005524)			cervix(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(9)	21					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	TGCCTAAAACCCGCTCAGGTA	0.532																																						ENST00000360596.2																			0				cervix(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(9)	21						c.(1969-1971)acC>acT		acyl-CoA synthetase short-chain family member 2	Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)						115	107	110					20																	33514747		2203	4300	6503	SO:0001819	synonymous_variant	55902				ethanol oxidation|lipid biosynthetic process|xenobiotic metabolic process	cytosol|nucleus	acetate-CoA ligase activity|ATP binding|protein binding	g.chr20:33514747C>T	AF263614	CCDS13243.1, CCDS42868.1, CCDS42868.2	20q11.22	2012-07-13	2005-09-08	2005-09-08	ENSG00000131069	ENSG00000131069	6.2.1.1	"Acyl-CoA synthetase family"	15814	protein-coding gene	gene with protein product		605832	"acetyl-Coenzyme A synthetase 2 (ADP forming)"	ACAS2		10843999	Standard	NM_018677		Approved	ACS, ACSA, AceCS, dJ1161H23.1	uc010gey.2	Q9NR19	OTTHUMG00000032317	ENST00000360596.2:c.1971C>T	20.37:g.33514747C>T						ACSS2_ENST00000336325.4_Silent_p.T607T|ACSS2_ENST00000253382.5_Silent_p.T670T|ACSS2_ENST00000476922.1_3'UTR	p.T657T	NM_018677.3	NP_061147.1	Q9NR19	ACSA_HUMAN			17	2182	+			657					A6NE90|Q5QPH2|Q5QPH3|Q8N238|Q96EL0|Q9NQP7|Q9UJ15	Silent	SNP	ENST00000360596.2	37	c.1971C>T	CCDS13243.1																																																																																				0.532	ACSS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078823.3	NM_018677		27	32	0	0	0	1	0	27	32					T	33514747	C	T	33514747	2	4	82	1	0	0	0	0	0	0	0	1	189	610	22	3		3	ACSS2	20	33514747	Silent	SNP	C	TCGA-EJ-7312-01B-21D-A32B-08	481553	33514747	29510773	37	4276											
TPTE	7179	broad.mit.edu	37	chr21	10916473	10916473	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaaaatatgcaacatatctCttctgaaaagcaacagaaat	19	9	5	8	0	2	2	0	1	2	1	3	2	2	2	0	0	4	3	0	0	9	3			TCGA-EJ-7312-01B-21D-A32B-08	TCGA-EJ-7312-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95b6d4db-b129-4065-a0d4-923c41a0d7b7	ae7020ae-a05c-4600-8e4f-566529e96967	g.chr21:10916473C>A	ENST00000361285.4	-	20	1502	c.1173G>T	c.(1171-1173)aaG>aaT	p.K391N	TPTE_ENST00000342420.5_Missense_Mutation_p.K353N|TPTE_ENST00000415664.2_Intron|TPTE_ENST00000298232.7_Missense_Mutation_p.K373N	NM_199261.2	NP_954870	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	391	Phosphatase tensin-type. {ECO:0000255|PROSITE-ProRule:PRU00590}.				peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	ion channel activity (GO:0005216)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		CAACATATCTCTTCTGAAAAG	0.338																																						ENST00000298232.7																			0				NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130						c.(1117-1119)aaG>aaT		transmembrane phosphatase with tensin homology							106	99	101					21																	10916473		2203	4300	6503	SO:0001583	missense	7179				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr21:10916473C>A	AF007118	CCDS74771.1, CCDS74772.1, CCDS74773.1	21p11	2011-06-09			ENSG00000166157	ENSG00000274391		"Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"	12023	protein-coding gene	gene with protein product	"PTEN-related tyrosine phosphatase", "cancer/testis antigen 44"	604336				10830953, 14659893	Standard	NM_001290224		Approved	PTEN2, CT44	uc002yip.1	P56180	OTTHUMG00000074127	ENST00000361285.4:c.1173G>T	21.37:g.10916473C>A	ENSP00000355208:p.Lys391Asn					TPTE_ENST00000415664.2_Intron|TPTE_ENST00000342420.5_Missense_Mutation_p.K353N|TPTE_ENST00000361285.4_Missense_Mutation_p.K391N	p.K373N	NM_199259.2	NP_954868.1	P56180	TPTE_HUMAN	Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	19	1486	-			391			Phosphatase tensin-type.		B2RAP7|C9J6D6|C9JKK8|Q6XPS4|Q6XPS5|Q71JA8|Q8NCS8	Missense_Mutation	SNP	ENST00000361285.4	37	c.1119G>T	CCDS13560.2	.	.	.	.	.	.	.	.	.	.	.	0.003	-2.398316	0.00198	.	.	ENSG00000166157	ENST00000298232;ENST00000361285;ENST00000342420	D;D;D	0.98585	-5.01;-5.01;-5.01	1.79	1.79	0.24919	Phosphatase tensin type (1);	0.135724	0.64402	N	0.000003	D	0.89795	0.6818	N	0.02412	-0.56	0.19300	N	0.999971	B;B;B	0.06786	0.001;0.0;0.0	B;B;B	0.06405	0.002;0.002;0.001	T	0.82331	-0.0510	10	0.12766	T	0.61	-9.0395	4.8086	0.13331	0.6724:0.3276:0.0:0.0	.	353;373;391	P56180-3;P56180-2;P56180	.;.;TPTE_HUMAN	N	373;391;353	ENSP00000298232:K373N;ENSP00000355208:K391N;ENSP00000344441:K353N	ENSP00000298232:K373N	K	-	3	2	TPTE	9938344	0.322000	0.24634	0.981000	0.43875	0.164000	0.22412	0.135000	0.15952	0.160000	0.19432	-1.447000	0.01057	AAG		0.338	TPTE-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000157413.1			4	130	1	0	0.00024832	1	0.000258525	4	130					A	10916473	C	A	10916473	3	1	82	1	0	0	0	0	1	0	0	0	16427	912	32	5	502	5	TPTE	21	10916473	Missense_Mutation	SNP	C	TCGA-EJ-7312-01B-21D-A32B-08		10916473	37213422	38	4277											
PCNT	5116	broad.mit.edu	37	chr21	47851559	47851559	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagctgcgtatcgagcactcAcgctgcgaggccttgctggc	6	8	14	13	4	1	0	1	0	0	0	2	3	1	0	1	2	5	5	1	2	1	2			TCGA-EJ-7312-01B-21D-A32B-08	TCGA-EJ-7312-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95b6d4db-b129-4065-a0d4-923c41a0d7b7	ae7020ae-a05c-4600-8e4f-566529e96967	g.chr21:47851559A>G	ENST00000359568.5	+	38	8288	c.8181A>G	c.(8179-8181)tcA>tcG	p.S2727S	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	2727					brain morphogenesis (GO:0048854)|cerebellar cortex morphogenesis (GO:0021696)|cilium assembly (GO:0042384)|G2/M transition of mitotic cell cycle (GO:0000086)|in utero embryonic development (GO:0001701)|limb morphogenesis (GO:0035108)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|neural precursor cell proliferation (GO:0061351)|neuron migration (GO:0001764)|olfactory bulb development (GO:0021772)|positive regulation of intracellular protein transport (GO:0090316)|spindle organization (GO:0007051)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intercellular bridge (GO:0045171)|membrane (GO:0016020)|microtubule (GO:0005874)|motile cilium (GO:0031514)|pericentriolar material (GO:0000242)				NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					TCGAGCACTCACGCTGCGAGG	0.622																																						ENST00000359568.5																			0				NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104						c.(8179-8181)tcA>tcG		pericentrin							47	44	45					21																	47851559		2203	4300	6503	SO:0001819	synonymous_variant	5116				cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding	g.chr21:47851559A>G	AB007862	CCDS33592.1	21q22.3	2014-02-20	2008-01-30	2005-11-03	ENSG00000160299	ENSG00000160299			16068	protein-coding gene	gene with protein product	"kendrin", "Seckel syndrome 4"	605925	"pericentrin 2 (kendrin)"	PCNT2		8812505, 9455477	Standard	NM_006031		Approved	KEN, KIAA0402, PCN, PCNTB, SCKL4	uc002zji.4	O95613	OTTHUMG00000090665	ENST00000359568.5:c.8181A>G	21.37:g.47851559A>G						PCNT_ENST00000480896.1_3'UTR	p.S2727S	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN			38	8288	+	Breast(49;0.112)		2727					O43152|Q7Z7C9	Silent	SNP	ENST00000359568.5	37	c.8181A>G	CCDS33592.1																																																																																				0.622	PCNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207336.1	NM_006031		5	85	0	0	0	1	0	5	85					G	47851559	A	G	47851559	2	3	82	1	0	0	0	0	0	0	0	1	11590	146	6	4		4	PCNT	21	47851559	Silent	SNP	A	TCGA-EJ-7312-01B-21D-A32B-08	36935086	47851559	278336	39	4278											
SLC5A1	6523	broad.mit.edu	37	chr22	32495175	32495175	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gggctttaatttcaggttgtTtatcctggtgctgattggca	6	17	12	6	0	1	1	1	1	0	0	2	1	2	1	1	4	1	5	1	4	2	7			TCGA-EJ-7312-01B-21D-A32B-08	TCGA-EJ-7312-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95b6d4db-b129-4065-a0d4-923c41a0d7b7	ae7020ae-a05c-4600-8e4f-566529e96967	g.chr22:32495175T>A	ENST00000266088.4	+	12	1536	c.1286T>A	c.(1285-1287)tTt>tAt	p.F429Y	SLC5A1_ENST00000543737.1_Missense_Mutation_p.F302Y	NM_000343.3	NP_000334.1	P13866	SC5A1_HUMAN	solute carrier family 5 (sodium/glucose cotransporter), member 1	429					carbohydrate metabolic process (GO:0005975)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|intestinal absorption (GO:0050892)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	glucose:sodium symporter activity (GO:0005412)			NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1)	37					Canagliflozin(DB08907)	TTCAGGTTGTTTATCCTGGTG	0.368																																						ENST00000266088.4																			0				NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1)	37						c.(1285-1287)tTt>tAt		solute carrier family 5 (sodium/glucose cotransporter), member 1							111	101	104					22																	32495175		2203	4300	6503	SO:0001583	missense	6523				carbohydrate metabolic process	integral to plasma membrane	glucose:sodium symporter activity|protein binding	g.chr22:32495175T>A		CCDS13902.1, CCDS58805.1	22q12.3	2013-05-22			ENSG00000100170	ENSG00000100170		"Solute carriers"	11036	protein-coding gene	gene with protein product	"sodium/glucose cotransporter 1"	182380		SGLT1		8195156	Standard	NM_000343		Approved	D22S675, NAGT	uc003amc.3	P13866	OTTHUMG00000030768	ENST00000266088.4:c.1286T>A	22.37:g.32495175T>A	ENSP00000266088:p.Phe429Tyr					SLC5A1_ENST00000543737.1_Missense_Mutation_p.F302Y	p.F429Y	NM_000343.3	NP_000334.1	P13866	SC5A1_HUMAN			12	1536	+			429					B2R7E2|B7Z4Q9|B7ZA69	Missense_Mutation	SNP	ENST00000266088.4	37	c.1286T>A	CCDS13902.1	.	.	.	.	.	.	.	.	.	.	T	27.8	4.865000	0.91511	.	.	ENSG00000100170	ENST00000266088;ENST00000543737	D;D	0.88354	-2.37;-2.37	5.29	5.29	0.74685	.	0.000000	0.85682	D	0.000000	D	0.96062	0.8717	H	0.95079	3.62	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.97228	0.9882	10	0.87932	D	0	.	14.4294	0.67238	0.0:0.0:0.0:1.0	.	429	P13866	SC5A1_HUMAN	Y	429;302	ENSP00000266088:F429Y;ENSP00000444898:F302Y	ENSP00000266088:F429Y	F	+	2	0	SLC5A1	30825175	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	6.029000	0.70895	2.003000	0.58678	0.455000	0.32223	TTT		0.368	SLC5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075656.3	NM_000343		7	185	0	0	0	1	0	7	185					A	32495175	T	A	32495175	3	1	82	1	0	0	0	0	1	0	0	0	14661	1841	64	5	1332	5	SLC5A1	22	32495175	Missense_Mutation	SNP	T	TCGA-EJ-7312-01B-21D-A32B-08		32495175	18809391	40	4279											
TEX13A	56157	broad.mit.edu	37	chrX	104464292	104464292	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cctccaacatcccctctgctCttcttctgctccttttcctc	3	16	2	20	0	4	0	0	0	4	0	9	0	8	0	6	0	3	2	6	0	1	4			TCGA-EJ-7312-01B-21D-A32B-08	TCGA-EJ-7312-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95b6d4db-b129-4065-a0d4-923c41a0d7b7	ae7020ae-a05c-4600-8e4f-566529e96967	g.chrX:104464292C>T	ENST00000413579.1	-	3	697	c.586G>A	c.(586-588)Gag>Aag	p.E196K	TEX13A_ENST00000372578.3_Missense_Mutation_p.E196K|IL1RAPL2_ENST00000344799.4_Intron|TEX13A_ENST00000372575.1_Missense_Mutation_p.E196K|IL1RAPL2_ENST00000372582.1_Intron			Q9BXU3	TX13A_HUMAN	testis expressed 13A	196							zinc ion binding (GO:0008270)	p.E196Q(1)		large_intestine(5)|ovary(2)|upper_aerodigestive_tract(1)	8						CCCCTCTGCTCTTCTTCTGCT	0.652																																						ENST00000372578.3																			1	Substitution - Missense(1)	p.E196Q(1)	ovary(1)	large_intestine(5)|ovary(2)|upper_aerodigestive_tract(1)	8						c.(586-588)Gag>Aag		testis expressed 13A							23	26	25					X																	104464292		2092	4131	6223	SO:0001583	missense	56157					intracellular	zinc ion binding	g.chrX:104464292C>T	AF285597	CCDS76005.1	Xq28	2012-04-20	2007-03-13		ENSG00000133149	ENSG00000268629			11735	protein-coding gene	gene with protein product		300312	"testis expressed sequence 13A"			11279525	Standard	NM_031274		Approved		uc004ema.3	Q9BXU3	OTTHUMG00000022133	ENST00000413579.1:c.586G>A	X.37:g.104464292C>T	ENSP00000399753:p.Glu196Lys					TEX13A_ENST00000413579.1_Missense_Mutation_p.E196K|IL1RAPL2_ENST00000372582.1_Intron|IL1RAPL2_ENST00000344799.4_Intron|TEX13A_ENST00000372575.1_Missense_Mutation_p.E196K	p.E196K	NM_031274.3	NP_112564.1	Q9BXU3	TX13A_HUMAN			3	697	-			196					B1B1G8|Q32NB6	Missense_Mutation	SNP	ENST00000413579.1	37	c.586G>A		.	.	.	.	.	.	.	.	.	.	C	0.005	-2.187916	0.00305	.	.	ENSG00000133149	ENST00000372578;ENST00000372575;ENST00000413579	.	.	.	1.69	-3.39	0.04868	.	1.807170	0.03666	N	0.243298	T	0.26011	0.0634	.	.	.	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.07751	-1.0756	8	0.31617	T	0.26	.	3.9763	0.09476	0.0:0.3334:0.3416:0.325	.	196;196	C9JWK0;Q9BXU3	.;TX13A_HUMAN	K	196	.	ENSP00000361656:E196K	E	-	1	0	TEX13A	104350948	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	-1.013000	0.03645	-2.080000	0.00870	-0.735000	0.03563	GAG		0.652	TEX13A-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_031274		19	5	0	0	0	1	0	19	5					T	104464292	C	T	104464292	3	4	82	1	0	0	0	0	1	0	0	0	15773	922	32	3	649	3	TEX13A	23	104464292	Missense_Mutation	SNP	C	TCGA-EJ-7312-01B-21D-A32B-08		104464292	50806268	41	4280											
COL24A1	255631	broad.mit.edu	37	chr1	86488275	86488275	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgctgtgccttgttcaccCtggaaagcacaatttcatgc	8	12	8	13	0	2	0	2	0	0	0	2	1	2	1	3	1	4	3	3	1	2	3			TCGA-EJ-7314-01A-31D-2114-08	TCGA-EJ-7314-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5029ad2a-780b-4be9-920c-ee48da8e2f42	4aace255-a8e8-4e86-a431-b957c4f80e8d	g.chr1:86488275C>A	ENST00000370571.2	-	17	2515		c.e17-1		COL24A1_ENST00000436319.1_Splice_Site	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1						extracellular matrix organization (GO:0030198)|hematopoietic progenitor cell differentiation (GO:0002244)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)			NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		CTTGTTCACCCTGGAAAGCAC	0.328																																						ENST00000370571.2																			0				NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101						c.e17-1		collagen, type XXIV, alpha 1							62	62	62					1																	86488275		1867	4098	5965	SO:0001630	splice_region_variant	255631				cell adhesion	collagen	extracellular matrix structural constituent	g.chr1:86488275C>A	AF410793	CCDS41353.1	1p22.3-p22.2	2013-01-16			ENSG00000171502	ENSG00000171502		"Collagens"	20821	protein-coding gene	gene with protein product		610025					Standard	NM_152890		Approved		uc001dlj.3	Q17RW2	OTTHUMG00000010629	ENST00000370571.2:c.2149-1G>T	1.37:g.86488275C>A						COL24A1_ENST00000436319.1_Splice_Site		NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN		all cancers(265;0.0627)|Epithelial(280;0.0689)	17	2515	-								C9J1X6|Q14BD7|Q59EX5|Q5VY50|Q7Z5L5	Splice_Site	SNP	ENST00000370571.2	37		CCDS41353.1	.	.	.	.	.	.	.	.	.	.	C	23.5	4.419397	0.83559	.	.	ENSG00000171502	ENST00000370571;ENST00000436319	.	.	.	5.62	5.62	0.85841	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.4498	0.87589	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	COL24A1	86260863	1.000000	0.71417	0.997000	0.53966	0.997000	0.91878	5.661000	0.68025	2.634000	0.89283	0.655000	0.94253	.		0.328	COL24A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029335.4	NM_152890	Intron	3	42	1	0	0.00909568	1	0.0092706	3	42					A	86488275	C	A	86488275	5	1	83	1	0	0	0	0	0	0	1	0	3683	695	24	5	3172	5	COL24A1	1	86488275	Splice_Site	SNP	C	TCGA-EJ-7314-01A-31D-2114-08		86488275	162762346	1	4281											
NBPF14	25832	broad.mit.edu	37	chr1	148004650	148004650	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agggcgaagctgatatgctcTtcctcaaatgagtaaaacac	14	9	9	9	1	2	2	1	2	1	0	3	3	3	2	1	1	3	3	1	1	5	3			TCGA-EJ-7314-01A-31D-2114-08	TCGA-EJ-7314-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5029ad2a-780b-4be9-920c-ee48da8e2f42	4aace255-a8e8-4e86-a431-b957c4f80e8d	g.chr1:148004650T>C	ENST00000369219.1	-	22	2680	c.2664A>G	c.(2662-2664)gaA>gaG	p.E888E				Q5TI25	NBPFE_HUMAN	neuroblastoma breakpoint family, member 14	888	NBPF 10. {ECO:0000255|PROSITE- ProRule:PRU00647}.					cytoplasm (GO:0005737)				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(23)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	42	all_hematologic(923;0.032)					TGATATGCTCTTCCTCAAATG	0.433																																						ENST00000369219.1																			0				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(23)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	42						c.(2662-2664)gaA>gaG		neuroblastoma breakpoint family, member 14							108	169	149					1																	148004650		2042	4214	6256	SO:0001819	synonymous_variant	25832					cytoplasm		g.chr1:148004650T>C	AK092351		1q21.1	2013-01-17			ENSG00000122497			"neuroblastoma breakpoint family"	25232	protein-coding gene	gene with protein product		614003				8619474, 9110174, 16079250	Standard	NM_015383		Approved	DJ328E19.C1.1	uc021owp.2	Q5TI25	OTTHUMG00000013900	ENST00000369219.1:c.2664A>G	1.37:g.148004650T>C							p.E888E			Q5TI25	NBPFE_HUMAN			22	2680	-	all_hematologic(923;0.032)		888			NBPF 10.		Q5TI23|Q8IX76|Q9UJI9	Silent	SNP	ENST00000369219.1	37	c.2664A>G		.	.	.	.	.	.	.	.	.	.	t	0.357	-0.941840	0.02322	.	.	ENSG00000122497	ENST00000310701	.	.	.	0.445	-0.891	0.10573	.	.	.	.	.	T	0.06234	0.0161	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	T	0.38265	-0.9669	3	.	.	.	.	.	.	.	.	.	.	.	R	894	.	.	K	-	2	0	NBPF14	146471274	0.864000	0.29904	0.000000	0.03702	0.006000	0.05464	0.691000	0.25467	-1.537000	0.01736	-1.189000	0.01698	AAG		0.433	NBPF14-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_015383		89	334	0	0	0	1	0	89	334					C	148004650	T	C	148004650	2	2	83	1	0	0	0	0	0	0	0	1	10194	1606	56	4		4	NBPF14	1	148004650	Silent	SNP	T	TCGA-EJ-7314-01A-31D-2114-08	61516375	148004650	101245971	2	4282											
FCER1A	2205	broad.mit.edu	37	chr1	159275921	159275921	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaagtactggtatgagaacCacaacatctccattacaaat	16	10	5	10	0	2	1	1	1	1	1	3	2	2	1	2	1	4	2	2	1	7	3			TCGA-EJ-7314-01A-31D-2114-08	TCGA-EJ-7314-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5029ad2a-780b-4be9-920c-ee48da8e2f42	4aace255-a8e8-4e86-a431-b957c4f80e8d	g.chr1:159275921C>A	ENST00000368115.1	+	5	574	c.475C>A	c.(475-477)Cac>Aac	p.H159N	FCER1A_ENST00000368114.1_Missense_Mutation_p.H126N	NM_002001.3	NP_001992.1	P12319	FCERA_HUMAN	Fc fragment of IgE, high affinity I, receptor for; alpha polypeptide	159	Ig-like 2.				activation of JUN kinase activity (GO:0007257)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|leukotriene biosynthetic process (GO:0019370)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of granulocyte macrophage colony-stimulating factor biosynthetic process (GO:0045425)|positive regulation of interleukin-3 biosynthetic process (GO:0045401)|positive regulation of mast cell degranulation (GO:0043306)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of type I hypersensitivity (GO:0001812)|serotonin secretion (GO:0001820)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	IgE receptor activity (GO:0019767)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(19)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33	all_hematologic(112;0.0429)				Benzylpenicilloyl Polylysine(DB00895)|Omalizumab(DB00043)	GTATGAGAACCACAACATCTC	0.488																																						ENST00000368115.1																			0				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(19)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						c.(475-477)Cac>Aac		Fc fragment of IgE, high affinity I, receptor for; alpha polypeptide	Benzylpenicilloyl Polylysine(DB00895)|Omalizumab(DB00043)						181	158	166					1																	159275921		2203	4300	6503	SO:0001583	missense	2205					integral to plasma membrane		g.chr1:159275921C>A	BC015195	CCDS1184.1	1q23	2013-01-11			ENSG00000179639	ENSG00000179639		"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	3609	protein-coding gene	gene with protein product		147140		FCE1A		8245459	Standard	NM_002001		Approved		uc001ftq.3	P12319	OTTHUMG00000037176	ENST00000368115.1:c.475C>A	1.37:g.159275921C>A	ENSP00000357097:p.His159Asn					FCER1A_ENST00000368114.1_Missense_Mutation_p.H126N	p.H159N	NM_002001.3	NP_001992.1	P12319	FCERA_HUMAN			5	574	+	all_hematologic(112;0.0429)		159			Ig-like 2.			Missense_Mutation	SNP	ENST00000368115.1	37	c.475C>A	CCDS1184.1	.	.	.	.	.	.	.	.	.	.	C	9.724	1.160329	0.21454	.	.	ENSG00000179639	ENST00000368115;ENST00000368114	T;T	0.12147	2.71;2.71	4.7	-3.8	0.04307	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	1.355120	0.04622	N	0.402118	T	0.01454	0.0047	N	0.05078	-0.115	0.09310	N	1	B	0.16166	0.016	B	0.12156	0.007	T	0.43956	-0.9359	10	0.28530	T	0.3	.	3.5535	0.07855	0.3632:0.2788:0.0:0.358	.	159	P12319	FCERA_HUMAN	N	159;126	ENSP00000357097:H159N;ENSP00000357096:H126N	ENSP00000357096:H126N	H	+	1	0	FCER1A	157542545	0.000000	0.05858	0.000000	0.03702	0.967000	0.64934	-1.302000	0.02746	-0.626000	0.05596	0.650000	0.86243	CAC		0.488	FCER1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090328.2	NM_002001		22	74	1	0	3.83957e-06	1	4.42385e-06	22	74					A	159275921	C	A	159275921	3	1	83	1	0	0	0	0	1	0	0	0	5774	594	21	5	489	5	FCER1A	1	159275921	Missense_Mutation	SNP	C	TCGA-EJ-7314-01A-31D-2114-08	11271271	159275921	89974700	3	4283											
SEC16B	89866	broad.mit.edu	37	chr1	177930014	177930014	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gctgacctcctggcccgaaaCtcacaggaacatgagggatg	11	6	12	12	1	1	2	1	2	0	0	2	5	2	4	3	3	2	1	3	3	2	0			TCGA-EJ-7314-01A-31D-2114-08	TCGA-EJ-7314-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5029ad2a-780b-4be9-920c-ee48da8e2f42	4aace255-a8e8-4e86-a431-b957c4f80e8d	g.chr1:177930014C>T	ENST00000308284.6	-	7	937	c.848G>A	c.(847-849)aGt>aAt	p.S283N	RP4-798P15.3_ENST00000354921.3_RNA|SEC16B_ENST00000464631.2_Missense_Mutation_p.S284N	NM_033127.2	NP_149118.2	Q96JE7	SC16B_HUMAN	SEC16 homolog B (S. cerevisiae)	283					COPII vesicle coating (GO:0048208)|endoplasmic reticulum organization (GO:0007029)|peroxisome fission (GO:0016559)|peroxisome organization (GO:0007031)|positive regulation of gene expression (GO:0010628)|positive regulation of protein exit from endoplasmic reticulum (GO:0070863)|protein localization to endoplasmic reticulum (GO:0070972)|protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|Golgi membrane (GO:0000139)|intracellular membrane-bounded organelle (GO:0043231)				central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)|stomach(1)	35						TGGCCCGAAACTCACAGGAAC	0.532																																						ENST00000308284.6																			0				central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)|stomach(1)	35						c.(847-849)aGt>aAt		SEC16 homolog B (S. cerevisiae)							67	73	71					1																	177930014		2120	4242	6362	SO:0001583	missense	89866				protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane		g.chr1:177930014C>T	AK090411	CCDS44281.1	1q25.2	2012-10-08	2007-06-20	2007-06-20	ENSG00000120341	ENSG00000120341			30301	protein-coding gene	gene with protein product	"regucalcin gene promotor region related protein"	612855	"leucine zipper transcription regulator 2"	LZTR2		11572484, 11605020	Standard	NM_033127		Approved	RGPR, PGPR-p117	uc001gli.1	Q96JE7	OTTHUMG00000167206	ENST00000308284.6:c.848G>A	1.37:g.177930014C>T	ENSP00000308339:p.Ser283Asn					RP4-798P15.3_ENST00000528461.1_Missense_Mutation_p.S283N|RP4-798P15.3_ENST00000354921.2_5'UTR|SEC16B_ENST00000464631.1_Missense_Mutation_p.S284N	p.S283N	NM_033127.2	NP_149118.2	Q96JE7	SC16B_HUMAN			7	937	-			283					A3EYF1|Q5HYF6|Q8N7D6|Q96GX6	Missense_Mutation	SNP	ENST00000308284.6	37	c.848G>A	CCDS44281.1	.	.	.	.	.	.	.	.	.	.	C	15.00	2.703726	0.48412	.	.	ENSG00000120341	ENST00000308284;ENST00000464631	T;T	0.47869	0.83;0.83	5.75	4.85	0.62838	Sec16, central conserved domain (1);	0.224040	0.40640	N	0.001056	T	0.42720	0.1215	L	0.47716	1.5	0.37659	D	0.922715	B;B;B	0.14438	0.01;0.004;0.001	B;B;B	0.16722	0.016;0.016;0.012	T	0.39563	-0.9608	10	0.32370	T	0.25	-5.3252	14.6589	0.68855	0.0:0.9297:0.0:0.0703	.	284;284;283	E9PK14;B1AM08;Q96JE7	.;.;SC16B_HUMAN	N	283;284	ENSP00000308339:S283N;ENSP00000431727:S284N	ENSP00000308339:S283N	S	-	2	0	AL359075.1	176196637	1.000000	0.71417	1.000000	0.80357	0.890000	0.51754	2.922000	0.48860	1.441000	0.47550	-0.137000	0.14449	AGT		0.532	SEC16B-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084773.16	NM_033127		5	40	0	0	0	1	0	5	40					T	177930014	C	T	177930014	3	4	83	1	0	0	0	0	1	0	0	0	13987	565	20	3	2414	3	SEC16B	1	177930014	Missense_Mutation	SNP	C	TCGA-EJ-7314-01A-31D-2114-08	18654093	177930014	71320607	4	4284											
URB2	9816	broad.mit.edu	37	chr1	229771856	229771856	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gggcccctccacggtactctCtgcatgcctcctggagctgc	4	9	11	17	1	1	0	0	0	1	0	4	1	3	1	5	3	5	3	5	3	1	1			TCGA-EJ-7314-01A-31D-2114-08	TCGA-EJ-7314-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5029ad2a-780b-4be9-920c-ee48da8e2f42	4aace255-a8e8-4e86-a431-b957c4f80e8d	g.chr1:229771856C>T	ENST00000258243.2	+	4	1632	c.1496C>T	c.(1495-1497)tCt>tTt	p.S499F		NM_014777.2	NP_055592.2	Q14146	URB2_HUMAN	URB2 ribosome biogenesis 2 homolog (S. cerevisiae)	499						aggresome (GO:0016235)|nucleolus (GO:0005730)|nucleus (GO:0005634)		p.S499F(1)		breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(6)	73						ACGGTACTCTCTGCATGCCTC	0.577																																						ENST00000258243.2																			1	Substitution - Missense(1)	p.S499F(1)	lung(1)	breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(6)	73						c.(1495-1497)tCt>tTt		URB2 ribosome biogenesis 2 homolog (S. cerevisiae)							113	118	116					1																	229771856		2203	4300	6503	SO:0001583	missense	9816					nucleolus		g.chr1:229771856C>T	D50923	CCDS31052.1	1q42.13	2009-11-06	2008-10-01	2008-10-01	ENSG00000135763	ENSG00000135763			28967	protein-coding gene	gene with protein product	"nucleolar preribosomal-associated protein 1"		"KIAA0133"	KIAA0133		8590280	Standard	NM_014777		Approved	NPA2, NET10	uc001hts.1	Q14146	OTTHUMG00000039464	ENST00000258243.2:c.1496C>T	1.37:g.229771856C>T	ENSP00000258243:p.Ser499Phe						p.S499F	NM_014777.2	NP_055592.2	Q14146	URB2_HUMAN			4	1632	+			499					Q5VYC9	Missense_Mutation	SNP	ENST00000258243.2	37	c.1496C>T	CCDS31052.1	.	.	.	.	.	.	.	.	.	.	C	4.911	0.169357	0.09339	.	.	ENSG00000135763	ENST00000258243	T	0.33216	1.42	5.35	0.996	0.19844	.	1.134710	0.06163	N	0.676348	T	0.23094	0.0558	L	0.34521	1.04	0.09310	N	1	B	0.33448	0.412	B	0.27887	0.084	T	0.24261	-1.0165	9	.	.	.	0.0631	11.0794	0.48051	0.0671:0.3671:0.5657:0.0	.	499	Q14146	URB2_HUMAN	F	499	ENSP00000258243:S499F	.	S	+	2	0	URB2	227838479	0.357000	0.24938	0.001000	0.08648	0.004000	0.04260	1.775000	0.38584	0.327000	0.23409	-0.153000	0.13522	TCT		0.577	URB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095232.1	NM_014777		41	117	0	0	0	1	0	41	117					T	229771856	C	T	229771856	3	4	83	1	0	0	0	0	1	0	0	0	17022	913	32	3	1506	3	URB2	1	229771856	Missense_Mutation	SNP	C	TCGA-EJ-7314-01A-31D-2114-08	51841842	229771856	19478765	5	4285											
PSD4	23550	broad.mit.edu	37	chr2	113949974	113949974	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aagtgagaatctgaggacacCgatgaactcttcttggcttc	11	11	10	9	1	3	3	0	3	3	1	4	6	3	4	1	2	1	1	1	2	3	3	rs146593284		TCGA-EJ-7314-01A-31D-2114-08	TCGA-EJ-7314-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5029ad2a-780b-4be9-920c-ee48da8e2f42	4aace255-a8e8-4e86-a431-b957c4f80e8d	g.chr2:113949974C>T	ENST00000245796.6	+	6	1841	c.1646C>T	c.(1645-1647)cCg>cTg	p.P549L	PSD4_ENST00000441564.3_Missense_Mutation_p.P521L	NM_012455.2	NP_036587.2	Q8NDX1	PSD4_HUMAN	pleckstrin and Sec7 domain containing 4	549	SEC7. {ECO:0000255|PROSITE- ProRule:PRU00189}.				neuron differentiation (GO:0030182)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|phospholipid binding (GO:0005543)			cervix(1)|endometrium(2)|large_intestine(4)|lung(13)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CTGAGGACACCGATGAACTCT	0.557																																						ENST00000245796.6																			0				cervix(1)|endometrium(2)|large_intestine(4)|lung(13)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(1645-1647)cCg>cTg		pleckstrin and Sec7 domain containing 4			LEU/PRO	1,4405	2.1+/-5.4	0,1,2202	184	191	189		1646	-3.9	0	2	dbSNP_134	189	1,8599	1.2+/-3.3	0,1,4299	yes	missense	PSD4	NM_012455.2	98	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	benign	549/1057	113949974	2,13004	2203	4300	6503	SO:0001583	missense	23550				regulation of ARF protein signal transduction	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity	g.chr2:113949974C>T	U63127	CCDS33276.1	2q13	2013-01-10			ENSG00000125637	ENSG00000125637		"Pleckstrin homology (PH) domain containing"	19096	protein-coding gene	gene with protein product		614442				12082148	Standard	XM_005263634		Approved	TIC, EFA6B	uc002tjc.3	Q8NDX1	OTTHUMG00000153339	ENST00000245796.6:c.1646C>T	2.37:g.113949974C>T	ENSP00000245796:p.Pro549Leu					PSD4_ENST00000441564.2_Missense_Mutation_p.P521L	p.P549L	NM_012455.2	NP_036587.2	Q8NDX1	PSD4_HUMAN			6	1841	+			549			SEC7.		A6NEG7|A8K1Y0|O95621|Q4ZG34|Q6GPH8|Q8IYP4	Missense_Mutation	SNP	ENST00000245796.6	37	c.1646C>T	CCDS33276.1	.	.	.	.	.	.	.	.	.	.	C	0.763	-0.768515	0.02974	2.27E-4	1.16E-4	ENSG00000125637	ENST00000245796;ENST00000441564	T;T	0.09723	2.95;3.0	3.93	-3.92	0.04155	.	1.186130	0.06672	N	0.766343	T	0.02649	0.0080	N	0.01576	-0.805	0.23611	N	0.997294	B;B;B	0.10296	0.0;0.003;0.002	B;B;B	0.06405	0.0;0.002;0.001	T	0.41770	-0.9490	10	0.14252	T	0.57	.	1.7799	0.03029	0.1571:0.1712:0.1466:0.5251	.	207;521;549	Q59HG0;Q8NDX1-2;Q8NDX1	.;.;PSD4_HUMAN	L	549;521	ENSP00000245796:P549L;ENSP00000413997:P521L	ENSP00000245796:P549L	P	+	2	0	PSD4	113666445	0.000000	0.05858	0.000000	0.03702	0.130000	0.20726	-0.883000	0.04170	-0.775000	0.04584	-0.266000	0.10368	CCG		0.557	PSD4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000330789.1	NM_012455		25	211	0	0	0	1	0	25	211					T	113949974	C	T	113949974	3	4	83	1	0	0	0	0	1	0	0	0	12649	652	23	2	1664	2	PSD4	2	113949974	Missense_Mutation	SNP	C	TCGA-EJ-7314-01A-31D-2114-08		113949974	129249399	6	4286											
ATF2	1386	broad.mit.edu	37	chr2	176001149	176001149	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgcacacatacctggcagaaTtcacatgtaacttgaatttc	13	12	6	10	0	1	2	1	1	0	1	2	2	1	2	1	1	3	3	1	1	4	5			TCGA-EJ-7314-01A-31D-2114-08	TCGA-EJ-7314-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5029ad2a-780b-4be9-920c-ee48da8e2f42	4aace255-a8e8-4e86-a431-b957c4f80e8d	g.chr2:176001149T>A	ENST00000264110.2	-	3	321	c.23A>T	c.(22-24)aAt>aTt	p.N8I	ATF2_ENST00000538946.1_5'UTR|ATF2_ENST00000426833.3_5'UTR|ATF2_ENST00000409499.1_Missense_Mutation_p.N8I|ATF2_ENST00000487334.2_5'UTR|ATF2_ENST00000345739.5_5'UTR|ATF2_ENST00000392544.1_Missense_Mutation_p.N8I|ATF2_ENST00000409635.1_5'UTR|ATF2_ENST00000392543.2_5'UTR|ATF2_ENST00000409437.1_5'UTR|ATF2_ENST00000409833.1_Missense_Mutation_p.N8I|ATF2_ENST00000413123.1_5'UTR	NM_001256090.1|NM_001256091.1|NM_001880.3	NP_001243019.1|NP_001243020.1|NP_001871.2	P15336	ATF2_HUMAN	activating transcription factor 2	8					adipose tissue development (GO:0060612)|cellular response to DNA damage stimulus (GO:0006974)|chromatin organization (GO:0006325)|fat cell differentiation (GO:0045444)|histone acetylation (GO:0016573)|innate immune response (GO:0045087)|intra-S DNA damage checkpoint (GO:0031573)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|outflow tract morphogenesis (GO:0003151)|positive regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902110)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transforming growth factor beta2 production (GO:0032915)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|response to osmotic stress (GO:0006970)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription from RNA polymerase II promoter (GO:0006366)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|mitochondrial outer membrane (GO:0005741)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)	cAMP response element binding (GO:0035497)|cAMP response element binding protein binding (GO:0008140)|chromatin binding (GO:0003682)|histone acetyltransferase activity (GO:0004402)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(6)|pancreas(1)|skin(1)	17			OV - Ovarian serous cystadenocarcinoma(117;0.125)		Pseudoephedrine(DB00852)	CCTGGCAGAATTCACATGTAA	0.284																																					Pancreas(17;87 705 4534 15538 30988)	ENST00000264110.2																			0				breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(6)|pancreas(1)|skin(1)	17						c.(22-24)aAt>aTt		activating transcription factor 2							120	125	123					2																	176001149		2202	4293	6495	SO:0001583	missense	1386				innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	nucleoplasm	protein dimerization activity|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding	g.chr2:176001149T>A	X15875	CCDS2262.1, CCDS58737.1, CCDS58738.1, CCDS58739.1	2q32	2013-01-10			ENSG00000115966	ENSG00000115966		"basic leucine zipper proteins"	784	protein-coding gene	gene with protein product		123811	"cAMP responsive element binding protein 2"	CREB2		1833307, 1838349	Standard	NM_001880		Approved	TREB7, CRE-BP1, HB16	uc002ujl.4	P15336	OTTHUMG00000132424	ENST00000264110.2:c.23A>T	2.37:g.176001149T>A	ENSP00000264110:p.Asn8Ile					ATF2_ENST00000345739.5_5'UTR|ATF2_ENST00000426833.3_5'UTR|ATF2_ENST00000409499.1_Missense_Mutation_p.N8I|ATF2_ENST00000487334.2_5'UTR|ATF2_ENST00000409833.1_Missense_Mutation_p.N8I|ATF2_ENST00000409437.1_5'UTR|ATF2_ENST00000413123.1_5'UTR|ATF2_ENST00000409635.1_5'UTR|ATF2_ENST00000538946.1_5'UTR|ATF2_ENST00000392543.2_5'UTR|ATF2_ENST00000392544.1_Missense_Mutation_p.N8I	p.N8I	NM_001256090.1|NM_001256091.1|NM_001880.3	NP_001243019.1|NP_001243020.1|NP_001871.2	P15336	ATF2_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.125)		3	321	-			8					A1L3Z2|A4D7U4|A4D7U5|A4D7V1|D3DPE9|G8JLM5|Q13000|Q3B7B7|Q4ZFU9|Q53RY2|Q8TAR1|Q96JT8	Missense_Mutation	SNP	ENST00000264110.2	37	c.23A>T	CCDS2262.1	.	.	.	.	.	.	.	.	.	.	T	11.94	1.789120	0.31685	.	.	ENSG00000115966	ENST00000264110;ENST00000542046;ENST00000392544;ENST00000409499;ENST00000409833	T;T;D	0.90563	-1.09;-1.09;-2.69	5.57	4.34	0.51931	.	0.646519	0.13397	N	0.390914	T	0.81669	0.4871	N	0.08118	0	0.80722	D	1	B;B	0.27316	0.175;0.109	B;B	0.31191	0.06;0.125	T	0.79296	-0.1862	10	0.66056	D	0.02	-0.3821	10.1543	0.42814	0.0:0.0:0.1673:0.8326	.	8;8	Q96JT8;P15336	.;ATF2_HUMAN	I	8	ENSP00000264110:N8I;ENSP00000376327:N8I;ENSP00000386526:N8I	ENSP00000264110:N8I	N	-	2	0	ATF2	175709395	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.019000	0.41001	2.099000	0.63709	0.477000	0.44152	AAT		0.284	ATF2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000255562.1	NM_001880		11	144	0	0	0	1	0	11	144					A	176001149	T	A	176001149	3	1	83	1	0	0	0	0	1	0	0	0	1080	1493	52	5	1542	5	ATF2	2	176001149	Missense_Mutation	SNP	T	TCGA-EJ-7314-01A-31D-2114-08	62051175	176001149	67198224	7	4287											
BMPR2	659	broad.mit.edu	37	chr2	203383680	203383680	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	tttacagagtgcctttgatgGaacatgacaacattgcccgc	11	11	9	10	1	0	3	0	2	0	1	0	4	0	4	2	1	5	0	2	1	3	4			TCGA-EJ-7314-01A-31D-2114-08	TCGA-EJ-7314-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5029ad2a-780b-4be9-920c-ee48da8e2f42	4aace255-a8e8-4e86-a431-b957c4f80e8d	g.chr2:203383680G>C	ENST00000374580.4	+	6	1296	c.757G>C	c.(757-759)Gaa>Caa	p.E253Q	BMPR2_ENST00000374574.2_Missense_Mutation_p.E253Q	NM_001204.6	NP_001195.2	Q13873	BMPR2_HUMAN	bone morphogenetic protein receptor, type II (serine/threonine kinase)	253	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activin receptor signaling pathway (GO:0032924)|anterior/posterior pattern specification (GO:0009952)|artery development (GO:0060840)|blood vessel remodeling (GO:0001974)|BMP signaling pathway (GO:0030509)|brain development (GO:0007420)|cellular response to starvation (GO:0009267)|chondrocyte development (GO:0002063)|limb development (GO:0060173)|lung alveolus development (GO:0048286)|lymphangiogenesis (GO:0001946)|lymphatic endothelial cell differentiation (GO:0060836)|mesoderm formation (GO:0001707)|negative regulation of cell growth (GO:0030308)|negative regulation of chondrocyte proliferation (GO:1902731)|negative regulation of DNA biosynthetic process (GO:2000279)|negative regulation of systemic arterial blood pressure (GO:0003085)|negative regulation of vasoconstriction (GO:0045906)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of bone mineralization (GO:0030501)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|regulation of cell proliferation (GO:0042127)|regulation of lung blood pressure (GO:0014916)|retina vasculature development in camera-type eye (GO:0061298)|transcription from RNA polymerase II promoter (GO:0006366)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|venous blood vessel development (GO:0060841)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|caveola (GO:0005901)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|fully spanning plasma membrane (GO:0044214)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	activin receptor activity, type II (GO:0016362)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|transforming growth factor beta-activated receptor activity (GO:0005024)			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(11)|lung(7)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(2)	42						GCCTTTGATGGAACATGACAA	0.423																																						ENST00000374580.4																			0				autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(11)|lung(7)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(2)	42						c.(757-759)Gaa>Caa		bone morphogenetic protein receptor, type II (serine/threonine kinase)							178	163	168					2																	203383680		2203	4300	6503	SO:0001583	missense	659				anterior/posterior pattern formation|BMP signaling pathway|cellular response to starvation|lung alveolus development|mesoderm formation|negative regulation of cell growth|negative regulation of systemic arterial blood pressure|negative regulation of vasoconstriction|positive regulation of BMP signaling pathway|positive regulation of bone mineralization|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of epithelial cell migration|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|regulation of lung blood pressure|transcription from RNA polymerase II promoter|vascular endothelial growth factor receptor signaling pathway	integral to plasma membrane	ATP binding|metal ion binding|transforming growth factor beta receptor activity	g.chr2:203383680G>C	Z48923	CCDS33361.1	2q33-q34	2014-09-17			ENSG00000204217	ENSG00000204217			1078	protein-coding gene	gene with protein product		600799	"primary pulmonary hypertension 1"	PPH1		7791754	Standard	NM_001204		Approved	BRK-3, T-ALK, BMPR3, BMPR-II	uc002uzf.4	Q13873	OTTHUMG00000133617	ENST00000374580.4:c.757G>C	2.37:g.203383680G>C	ENSP00000363708:p.Glu253Gln					BMPR2_ENST00000374574.2_Missense_Mutation_p.E253Q	p.E253Q	NM_001204.6	NP_001195.2	Q13873	BMPR2_HUMAN			6	1296	+			253			Protein kinase.		Q13161|Q16569|Q4ZG08|Q53SA5|Q585T8	Missense_Mutation	SNP	ENST00000374580.4	37	c.757G>C	CCDS33361.1	.	.	.	.	.	.	.	.	.	.	G	19.83	3.899653	0.72754	.	.	ENSG00000204217	ENST00000374580;ENST00000374574	D;D	0.93019	-3.15;-3.15	5.65	5.65	0.86999	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.146545	0.64402	D	0.000007	D	0.90164	0.6926	L	0.31664	0.95	0.80722	D	1	B;B	0.20988	0.05;0.01	B;B	0.18561	0.022;0.019	D	0.85864	0.1412	10	0.66056	D	0.02	.	19.7421	0.96237	0.0:0.0:1.0:0.0	.	253;253	Q13161;Q13873	.;BMPR2_HUMAN	Q	253	ENSP00000363708:E253Q;ENSP00000363702:E253Q	ENSP00000363702:E253Q	E	+	1	0	BMPR2	203091925	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.789000	0.99068	2.666000	0.90696	0.650000	0.86243	GAA		0.423	BMPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257743.1	NM_001204		39	109	0	0	0	1	0	39	109					C	203383680	G	C	203383680	3	2	83	1	0	0	0	0	1	0	0	0	1471	1175	41	5	779	5	BMPR2	2	203383680	Missense_Mutation	SNP	G	TCGA-EJ-7314-01A-31D-2114-08	27382531	203383680	39815693	8	4288											
ATP2B2	491	broad.mit.edu	37	chr3	10417120	10417120	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctcccctctcaccttcacCgaataggccaacgagatggt	9	9	7	16	2	2	1	2	0	1	1	5	3	4	1	6	2	1	0	6	2	3	2	rs556206364		TCGA-EJ-7314-01A-31D-2114-08	TCGA-EJ-7314-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5029ad2a-780b-4be9-920c-ee48da8e2f42	4aace255-a8e8-4e86-a431-b957c4f80e8d	g.chr3:10417120C>T	ENST00000352432.4	-	10	1479	c.1410G>A	c.(1408-1410)tcG>tcA	p.S470S	ATP2B2_ENST00000383800.4_Silent_p.S425S|ATP2B2_ENST00000343816.4_Silent_p.S456S|ATP2B2_ENST00000360273.2_Silent_p.S470S|ATP2B2_ENST00000397077.1_Silent_p.S425S			Q01814	AT2B2_HUMAN	ATPase, Ca++ transporting, plasma membrane 2	470					auditory receptor cell stereocilium organization (GO:0060088)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cerebellar granule cell differentiation (GO:0021707)|cerebellar Purkinje cell differentiation (GO:0021702)|cGMP metabolic process (GO:0046068)|cochlea development (GO:0090102)|cytosolic calcium ion homeostasis (GO:0051480)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|ion transmembrane transport (GO:0034220)|lactation (GO:0007595)|locomotion (GO:0040011)|locomotory behavior (GO:0007626)|neuromuscular process controlling balance (GO:0050885)|neuron differentiation (GO:0030182)|organelle organization (GO:0006996)|otolith mineralization (GO:0045299)|positive regulation of calcium ion transport (GO:0051928)|regulation of cell size (GO:0008361)|regulation of synaptic plasticity (GO:0048167)|sensory perception of sound (GO:0007605)|serotonin metabolic process (GO:0042428)|synapse organization (GO:0050808)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cilium (GO:0005929)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calcium-dependent ATPase activity (GO:0030899)|calcium-transporting ATPase activity (GO:0005388)|calmodulin binding (GO:0005516)|metal ion binding (GO:0046872)|PDZ domain binding (GO:0030165)|protein C-terminus binding (GO:0008022)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						TCACCTTCACCGAATAGGCCA	0.622																																					Ovarian(125;1619 1709 15675 19819 38835)	ENST00000397077.1																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						c.(1273-1275)tcG>tcA		ATPase, Ca++ transporting, plasma membrane 2							48	53	51					3																	10417120		2203	4300	6503	SO:0001819	synonymous_variant	491				ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation	cytosol|integral to membrane|plasma membrane	ATP binding|calcium ion binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding	g.chr3:10417120C>T	X63575	CCDS2601.1, CCDS33701.1	3p25.3	2010-04-20	2001-12-04		ENSG00000157087	ENSG00000157087	3.6.3.8	"ATPases / P-type"	815	protein-coding gene	gene with protein product	"plasma membrane Ca2+ pump 2", "plasma membrane calcium-transporting ATPase 2"	108733				1313367	Standard	NM_001001331		Approved	PMCA2	uc003bvt.3	Q01814	OTTHUMG00000128679	ENST00000352432.4:c.1410G>A	3.37:g.10417120C>T						ATP2B2_ENST00000383800.4_Silent_p.S425S|ATP2B2_ENST00000360273.2_Silent_p.S470S|ATP2B2_ENST00000352432.4_Silent_p.S470S|ATP2B2_ENST00000343816.4_Silent_p.S456S	p.S425S			Q01814	AT2B2_HUMAN			10	1850	-			470					O00766|Q12994|Q16818	Silent	SNP	ENST00000352432.4	37	c.1275G>A	CCDS33701.1																																																																																				0.622	ATP2B2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000250576.2	NM_001683		8	48	0	0	0	1	0	8	48					T	10417120	C	T	10417120	2	4	83	1	0	0	0	0	0	0	0	1	1140	639	23	2		2	ATP2B2	3	10417120	Silent	SNP	C	TCGA-EJ-7314-01A-31D-2114-08		10417120	187605310	9	4289											
CACNA1D	776	broad.mit.edu	37	chr3	53531240	53531240	+	Silent	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	gaaggaccaacttctcagccGaatagctccaagcaaactgt	14	7	8	12	1	1	0	1	0	1	0	3	3	2	1	3	1	5	2	3	1	6	2			TCGA-EJ-7314-01A-31D-2114-08	TCGA-EJ-7314-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5029ad2a-780b-4be9-920c-ee48da8e2f42	4aace255-a8e8-4e86-a431-b957c4f80e8d	g.chr3:53531240G>C	ENST00000350061.5	+	2	640	c.129G>C	c.(127-129)ccG>ccC	p.P43P	CACNA1D_ENST00000288139.4_Silent_p.P43P|CACNA1D_ENST00000422281.2_Silent_p.P43P	NM_001128840.1	NP_001122312.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit	43					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|energy reserve metabolic process (GO:0006112)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane repolarization during SA node cell action potential (GO:0086052)|positive regulation of calcium ion transport (GO:0051928)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of insulin secretion (GO:0050796)|regulation of potassium ion transmembrane transport (GO:1901379)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|sensory perception of sound (GO:0007605)|small molecule metabolic process (GO:0044281)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|ankyrin binding (GO:0030506)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)|voltage-gated calcium channel activity involved in cardiac muscle cell action potential (GO:0086007)|voltage-gated calcium channel activity involved SA node cell action potential (GO:0086059)			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	CTTCTCAGCCGAATAGCTCCA	0.488																																						ENST00000288139.3																			0				breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90						c.(127-129)ccG>ccC		calcium channel, voltage-dependent, L type, alpha 1D subunit	Verapamil(DB00661)						72	75	74					3																	53531240		2203	4300	6503	SO:0001819	synonymous_variant	776				axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr3:53531240G>C	AB209171	CCDS2872.1, CCDS46848.1, CCDS46849.1	3p14.3	2012-03-07			ENSG00000157388	ENSG00000157388		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1391	protein-coding gene	gene with protein product		114206		CCHL1A2, CACNL1A2		1664412	Standard	NM_000720		Approved	Cav1.3, CACH3, CACN4	uc003dgu.5	Q01668	OTTHUMG00000158278	ENST00000350061.5:c.129G>C	3.37:g.53531240G>C						CACNA1D_ENST00000422281.2_Silent_p.P43P|CACNA1D_ENST00000350061.5_Silent_p.P43P	p.P43P	NM_000720.2	NP_000711.1	Q01668	CAC1D_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	2	247	+			43					B0FYA3|Q13916|Q13931|Q71UT1|Q9UDC3	Silent	SNP	ENST00000350061.5	37	c.129G>C	CCDS46848.1																																																																																				0.488	CACNA1D-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350557.1	NM_000720		6	72	0	0	0	1	0	6	72					C	53531240	G	C	53531240	2	2	83	1	0	0	0	0	0	0	0	1	2541	1045	37	5		5	CACNA1D	3	53531240	Silent	SNP	G	TCGA-EJ-7314-01A-31D-2114-08	43114120	53531240	144491190	10	4290											
FLNB	2317	broad.mit.edu	37	chr3	58156417	58156417	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacgtcgtcaaggagaggggCgattatgtgctggctgtgaa	9	10	16	6	3	1	2	1	1	0	1	2	4	1	2	0	4	2	2	0	4	4	2	rs543564224		TCGA-EJ-7314-01A-31D-2114-08	TCGA-EJ-7314-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5029ad2a-780b-4be9-920c-ee48da8e2f42	4aace255-a8e8-4e86-a431-b957c4f80e8d	g.chr3:58156417C>T	ENST00000295956.4	+	46	7902	c.7737C>T	c.(7735-7737)ggC>ggT	p.G2579G	FLNB-AS1_ENST00000488720.1_RNA|FLNB_ENST00000484981.1_3'UTR|FLNB_ENST00000429972.2_Silent_p.G2568G|FLNB_ENST00000419752.2_Silent_p.G2399G|FLNB_ENST00000357272.4_3'UTR|FLNB_ENST00000490882.1_Silent_p.G2610G|FLNB_ENST00000493452.1_Silent_p.G2386G|FLNB_ENST00000358537.3_Silent_p.G2555G|FLNB_ENST00000348383.5_Silent_p.G2538G	NM_001457.3	NP_001448.2	O75369	FLNB_HUMAN	filamin B, beta	2579	Interaction with FLNA 2.|Interaction with INPPL1.|Self-association site, tail. {ECO:0000250}.				actin cytoskeleton organization (GO:0030036)|cell differentiation (GO:0030154)|cytokine-mediated signaling pathway (GO:0019221)|cytoskeletal anchoring at plasma membrane (GO:0007016)|signal transduction (GO:0007165)|skeletal muscle tissue development (GO:0007519)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	actin binding (GO:0003779)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		AGGAGAGGGGCGATTATGTGC	0.542																																						ENST00000295956.4																			0				NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120						c.(7735-7737)ggC>ggT		filamin B, beta							94	82	86					3																	58156417		2203	4300	6503	SO:0001819	synonymous_variant	2317				actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding	g.chr3:58156417C>T	AF043045	CCDS2885.1, CCDS54599.1, CCDS54600.1, CCDS54601.1	3p14.3	2011-02-11	2009-07-23		ENSG00000136068	ENSG00000136068			3755	protein-coding gene	gene with protein product	"actin binding protein 278"	603381	"filamin B, beta (actin binding protein 278)", "Larsen syndrome 1 (autosomal dominant)"	FLN1L, LRS1		8327473, 10449914, 14991055, 16801345	Standard	NM_001457		Approved	TAP, TABP, ABP-278, FH1	uc010hne.2	O75369	OTTHUMG00000159158	ENST00000295956.4:c.7737C>T	3.37:g.58156417C>T						FLNB_ENST00000484981.1_3'UTR|FLNB_ENST00000348383.5_Silent_p.G2538G|FLNB_ENST00000493452.1_Silent_p.G2386G|FLNB_ENST00000429972.2_Silent_p.G2568G|FLNB_ENST00000419752.2_Silent_p.G2399G|FLNB_ENST00000490882.1_Silent_p.G2610G|FLNB_ENST00000357272.4_3'UTR|FLNB_ENST00000358537.3_Silent_p.G2555G	p.G2579G	NM_001457.3	NP_001448.2	O75369	FLNB_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)	46	7902	+			2579			Interaction with FLNA 2.|Interaction with INPPL1.|Self-association site, tail (By similarity).		B2ZZ83|B2ZZ84|B2ZZ85|C9JKE6|C9JMC4|Q13706|Q59EC2|Q60FE7|Q6MZJ1|Q8WXS9|Q8WXT0|Q8WXT1|Q8WXT2|Q8WXT3|Q9NRB5|Q9NT26|Q9UEV9	Silent	SNP	ENST00000295956.4	37	c.7737C>T	CCDS2885.1																																																																																				0.542	FLNB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000353569.1	NM_001457		4	58	0	0	0	1	0	4	58					T	58156417	C	T	58156417	2	4	83	1	0	0	0	0	0	0	0	1	5934	755	27	1		1	FLNB	3	58156417	Silent	SNP	C	TCGA-EJ-7314-01A-31D-2114-08	4625177	58156417	139866013	11	4291											
PDCL2	132954	broad.mit.edu	37	chr4	56447021	56447021	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcctgcatatcttcttcaTcaaattcatcttcagcttcc	9	15	3	14	0	7	0	4	0	3	0	8	0	8	0	2	0	3	2	2	0	2	6			TCGA-EJ-7314-01A-31D-2114-08	TCGA-EJ-7314-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5029ad2a-780b-4be9-920c-ee48da8e2f42	4aace255-a8e8-4e86-a431-b957c4f80e8d	g.chr4:56447021T>C	ENST00000295645.4	-	3	287	c.185A>G	c.(184-186)gAt>gGt	p.D62G		NM_152401.2	NP_689614.2	Q8N4E4	PDCL2_HUMAN	phosducin-like 2	62				D -> N (in Ref. 3; AAH34431). {ECO:0000305}.						endometrium(1)|kidney(1)|lung(4)|ovary(1)	7	Lung NSC(11;0.00256)|Glioma(25;0.08)|all_epithelial(27;0.0863)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(4;1.69e-07)|Lung(4;1.03e-06)|Epithelial(7;0.00669)			ATCTTCTTCATCAAATTCATC	0.269																																						ENST00000295645.4																			0				endometrium(1)|kidney(1)|lung(4)|ovary(1)	7						c.(184-186)gAt>gGt		phosducin-like 2							74	70	71					4																	56447021		1818	4084	5902	SO:0001583	missense	132954							g.chr4:56447021T>C	BC034431	CCDS47059.1	4q12	2008-02-05			ENSG00000163440	ENSG00000163440			29524	protein-coding gene	gene with protein product		611676				12424248	Standard	NM_152401		Approved	GCPHLP	uc003hbb.3	Q8N4E4	OTTHUMG00000160674	ENST00000295645.4:c.185A>G	4.37:g.56447021T>C	ENSP00000295645:p.Asp62Gly						p.D62G	NM_152401.2	NP_689614.2	Q8N4E4	PDCL2_HUMAN	LUSC - Lung squamous cell carcinoma(4;1.69e-07)|Lung(4;1.03e-06)|Epithelial(7;0.00669)		3	287	-	Lung NSC(11;0.00256)|Glioma(25;0.08)|all_epithelial(27;0.0863)|all_neural(26;0.101)		62	D -> N (in Ref. 3; AAH34431).				A8MWA2|B9ZVQ9	Missense_Mutation	SNP	ENST00000295645.4	37	c.185A>G	CCDS47059.1	.	.	.	.	.	.	.	.	.	.	T	13.49	2.253874	0.39896	.	.	ENSG00000163440	ENST00000295645	T	0.51325	0.71	5.08	5.08	0.68730	Thioredoxin-like fold (1);Phosducin, thioredoxin-like domain (1);	0.000000	0.64402	D	0.000004	T	0.52661	0.1748	M	0.81682	2.555	0.36643	D	0.876957	B	0.17465	0.022	B	0.25405	0.06	T	0.61530	-0.7044	10	0.62326	D	0.03	-17.1698	12.6614	0.56815	0.0:0.0:0.0:1.0	.	62	Q8N4E4	PDCL2_HUMAN	G	62	ENSP00000295645:D62G	ENSP00000295645:D62G	D	-	2	0	PDCL2	56141778	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	3.864000	0.56024	2.051000	0.60960	0.482000	0.46254	GAT		0.269	PDCL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361659.1	NM_152401		3	9	0	0	0	1	0	3	9					C	56447021	T	C	56447021	3	2	83	1	0	0	0	0	1	0	0	0	11627	1435	50	4	556	4	PDCL2	4	56447021	Missense_Mutation	SNP	T	TCGA-EJ-7314-01A-31D-2114-08		56447021	134707255	12	4292											
G3BP2	9908	broad.mit.edu	37	chr4	76573856	76573856	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tctaggaggaaaaccaggtcGttctctaggtcgttgttcac	9	12	11	9	2	3	0	1	0	2	0	6	2	3	2	1	4	1	3	1	4	4	5			TCGA-EJ-7314-01A-31D-2114-08	TCGA-EJ-7314-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5029ad2a-780b-4be9-920c-ee48da8e2f42	4aace255-a8e8-4e86-a431-b957c4f80e8d	g.chr4:76573856G>A	ENST00000359707.4	-	9	1680	c.895C>T	c.(895-897)Cga>Tga	p.R299*	G3BP2_ENST00000395719.3_Nonsense_Mutation_p.R299*|G3BP2_ENST00000357854.3_Nonsense_Mutation_p.R266*	NM_203505.2	NP_987101.1	Q9UN86	G3BP2_HUMAN	GTPase activating protein (SH3 domain) binding protein 2	299					cytoplasmic sequestering of NF-kappaB (GO:0007253)|mRNA transport (GO:0051028)|Ras protein signal transduction (GO:0007265)	cytoplasm (GO:0005737)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|receptor signaling complex scaffold activity (GO:0030159)			breast(3)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	27			Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122)			AAACCAGGTCGTTCTCTAGGT	0.398																																						ENST00000359707.4																			0				breast(3)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	27						c.(895-897)Cga>Tga		GTPase activating protein (SH3 domain) binding protein 2							95	86	89					4																	76573856		2203	4300	6503	SO:0001587	stop_gained	9908				cytoplasmic sequestering of NF-kappaB|mRNA transport|Ras protein signal transduction|regulation of small GTPase mediated signal transduction	cytosol	GTPase activator activity|nucleotide binding|receptor signaling complex scaffold activity|RNA binding	g.chr4:76573856G>A	AB014560	CCDS3571.1, CCDS3572.1	4q21.1	2013-02-12	2006-11-01		ENSG00000138757	ENSG00000138757		"RNA binding motif (RRM) containing"	30291	protein-coding gene	gene with protein product	"Ras-GTPase activating protein SH3 domain-binding protein 2"					9734811, 9575347	Standard	NM_203504		Approved	KIAA0660	uc003his.3	Q9UN86	OTTHUMG00000130097	ENST00000359707.4:c.895C>T	4.37:g.76573856G>A	ENSP00000352738:p.Arg299*					G3BP2_ENST00000395719.3_Nonsense_Mutation_p.R299*|G3BP2_ENST00000357854.3_Nonsense_Mutation_p.R266*	p.R299*	NM_203505.2	NP_987101.1	Q9UN86	G3BP2_HUMAN	Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122)		9	1680	-			299					A8K6X1|O60606|O75149|Q9UPA1	Nonsense_Mutation	SNP	ENST00000359707.4	37	c.895C>T	CCDS3571.1	.	.	.	.	.	.	.	.	.	.	G	45	11.341363	0.99549	.	.	ENSG00000138757	ENST00000395719;ENST00000359707;ENST00000357854	.	.	.	5.96	4.19	0.49359	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.2478	0.43352	0.0679:0.0:0.6537:0.2784	.	.	.	.	X	299;299;266	.	ENSP00000350518:R266X	R	-	1	2	G3BP2	76792880	0.995000	0.38212	1.000000	0.80357	0.964000	0.63967	1.864000	0.39469	1.522000	0.49001	-0.140000	0.14226	CGA		0.398	G3BP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252399.2	NM_012297		4	34	0	0	0	1	0	4	34					A	76573856	G	A	76573856	4	1	83	1	0	0	0	0	0	1	0	0	6142	1153	40	1	569	1	G3BP2	4	76573856	Nonsense_Mutation	SNP	G	TCGA-EJ-7314-01A-31D-2114-08	20126835	76573856	114580420	13	4293											
PDLIM5	10611	broad.mit.edu	37	chr4	95376473	95376473	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtgtgtcactggttggcccaGctccttggggtttccggctg	2	13	15	11	1	1	0	1	0	0	0	3	0	3	0	3	5	1	4	3	5	0	3			TCGA-EJ-7314-01A-31D-2114-08	TCGA-EJ-7314-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5029ad2a-780b-4be9-920c-ee48da8e2f42	4aace255-a8e8-4e86-a431-b957c4f80e8d	g.chr4:95376473G>A	ENST00000317968.4	+	2	170	c.34G>A	c.(34-36)Gct>Act	p.A12T	PDLIM5_ENST00000512274.1_Missense_Mutation_p.A12T|PDLIM5_ENST00000380180.3_Missense_Mutation_p.A12T|PDLIM5_ENST00000450793.1_Missense_Mutation_p.A12T|PDLIM5_ENST00000514743.1_Missense_Mutation_p.A12T|PDLIM5_ENST00000508216.1_Missense_Mutation_p.A12T|PDLIM5_ENST00000437932.1_Missense_Mutation_p.A12T|PDLIM5_ENST00000538141.1_Missense_Mutation_p.A12T|PDLIM5_ENST00000318007.5_Missense_Mutation_p.A12T|PDLIM5_ENST00000504489.1_Missense_Mutation_p.A12T|PDLIM5_ENST00000359265.4_Missense_Mutation_p.A12T|PDLIM5_ENST00000542407.1_5'UTR	NM_001256428.1|NM_006457.4	NP_001243357.1|NP_006448	Q96HC4	PDLI5_HUMAN	PDZ and LIM domain 5	12	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				regulation of dendritic spine morphogenesis (GO:0061001)|regulation of synapse assembly (GO:0051963)	actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|cytosol (GO:0005829)|membrane (GO:0016020)|neuron projection (GO:0043005)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	actin binding (GO:0003779)|actinin binding (GO:0042805)|protein kinase C binding (GO:0005080)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	22		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.84e-09)		GGTTGGCCCAGCTCCTTGGGG	0.403																																						ENST00000317968.4																			0				central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	22						c.(34-36)Gct>Act		PDZ and LIM domain 5							66	65	65					4																	95376473		2203	4300	6503	SO:0001583	missense	10611				regulation of dendritic spine morphogenesis|regulation of synaptogenesis	actin cytoskeleton|cell junction|cytosol|postsynaptic density|postsynaptic membrane|synaptosome	actin binding|actinin binding|protein kinase C binding|zinc ion binding	g.chr4:95376473G>A	AF061258	CCDS3641.1, CCDS47103.1, CCDS47104.1, CCDS58915.1, CCDS58916.1, CCDS58917.1, CCDS75166.1	4q22	2006-04-12			ENSG00000163110	ENSG00000163110			17468	protein-coding gene	gene with protein product		605904				15346770	Standard	NM_006457		Approved	LIM, Enh	uc003htk.4	Q96HC4	OTTHUMG00000130973	ENST00000317968.4:c.34G>A	4.37:g.95376473G>A	ENSP00000321746:p.Ala12Thr					PDLIM5_ENST00000508216.1_Missense_Mutation_p.A12T|PDLIM5_ENST00000538141.1_Missense_Mutation_p.A12T|PDLIM5_ENST00000380180.3_Missense_Mutation_p.A12T|PDLIM5_ENST00000359265.4_Missense_Mutation_p.A12T|PDLIM5_ENST00000504489.1_Missense_Mutation_p.A12T|PDLIM5_ENST00000450793.1_Missense_Mutation_p.A12T|PDLIM5_ENST00000437932.1_Missense_Mutation_p.A12T|PDLIM5_ENST00000512274.1_Missense_Mutation_p.A12T|PDLIM5_ENST00000542407.1_5'UTR|PDLIM5_ENST00000318007.5_Missense_Mutation_p.A12T|PDLIM5_ENST00000514743.1_Missense_Mutation_p.A12T	p.A12T	NM_001256428.1|NM_006457.4	NP_001243357.1|NP_006448.4	Q96HC4	PDLI5_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;1.84e-09)	2	170	+		Hepatocellular(203;0.114)	12			PDZ.		A8K6F9|D6RB78|E9PBF5|O60705|Q56VN4|Q5UW38|Q8WVK0	Missense_Mutation	SNP	ENST00000317968.4	37	c.34G>A	CCDS3641.1	.	.	.	.	.	.	.	.	.	.	G	35	5.510695	0.96386	.	.	ENSG00000163110	ENST00000359265;ENST00000437932;ENST00000380180;ENST00000318007;ENST00000450793;ENST00000538141;ENST00000317968;ENST00000512274;ENST00000503974;ENST00000504489;ENST00000508216;ENST00000514743	T;T;T;T;T;T;T;T;T;T;T;T	0.53640	0.61;1.68;1.68;1.68;2.61;2.61;1.68;2.31;1.68;2.31;1.68;1.68	5.51	5.51	0.81932	PDZ/DHR/GLGF (4);	0.157494	0.41823	D	0.000815	T	0.67524	0.2902	M	0.62723	1.935	0.80722	D	1	D;D;D;D;P;P	0.71674	0.998;0.989;0.965;0.986;0.932;0.883	D;D;P;D;B;P	0.80764	0.994;0.927;0.86;0.917;0.303;0.755	T	0.69379	-0.5161	10	0.72032	D	0.01	.	18.1706	0.89744	0.0:0.0:1.0:0.0	.	12;12;12;12;12;12	E9PBF5;D6RB78;Q96HC4;Q96HC4-4;Q96HC4-2;Q96HC4-3	.;.;PDLI5_HUMAN;.;.;.	T	12	ENSP00000352210:A12T;ENSP00000398469:A12T;ENSP00000369527:A12T;ENSP00000322021:A12T;ENSP00000401579:A12T;ENSP00000439795:A12T;ENSP00000321746:A12T;ENSP00000426379:A12T;ENSP00000424297:A12T;ENSP00000423009:A12T;ENSP00000426804:A12T;ENSP00000424360:A12T	ENSP00000321746:A12T	A	+	1	0	PDLIM5	95595496	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.876000	0.63079	2.578000	0.87016	0.591000	0.81541	GCT		0.403	PDLIM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253586.1			4	35	0	0	0	1	0	4	35					A	95376473	G	A	95376473	3	1	83	1	0	0	0	0	1	0	0	0	11683	971	34	3	36	3	PDLIM5	4	95376473	Missense_Mutation	SNP	G	TCGA-EJ-7314-01A-31D-2114-08	18802617	95376473	95777803	14	4294											
COL25A1	84570	broad.mit.edu	37	chr4	109784483	109784483	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agaataactcacctttggtcCgggggctccaggttcccctc	7	10	10	14	1	1	1	1	0	0	1	5	1	4	1	5	4	1	2	5	4	2	3			TCGA-EJ-7314-01A-31D-2114-08	TCGA-EJ-7314-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5029ad2a-780b-4be9-920c-ee48da8e2f42	4aace255-a8e8-4e86-a431-b957c4f80e8d	g.chr4:109784483C>T	ENST00000399132.1	-	21	1674	c.1144G>A	c.(1144-1146)Gga>Aga	p.G382R	COL25A1_ENST00000399127.1_Missense_Mutation_p.G378R|COL25A1_ENST00000399126.1_Missense_Mutation_p.G382R	NM_198721.2	NP_942014.1			collagen, type XXV, alpha 1											NS(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	49		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000173)		ACCTTTGGTCCGGGGGCTCCA	0.453																																						ENST00000399132.1																			0				NS(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	49						c.(1144-1146)Gga>Aga		collagen, type XXV, alpha 1							54	55	55					4																	109784483		1823	4085	5908	SO:0001583	missense	84570					collagen|extracellular space	beta-amyloid binding|heparin binding	g.chr4:109784483C>T	AF293340	CCDS43258.1, CCDS43259.1, CCDS58922.1	4q25	2013-01-16			ENSG00000188517	ENSG00000188517		"Collagens"	18603	protein-coding gene	gene with protein product		610004				11927537	Standard	NM_001256074		Approved		uc003hze.2	Q9BXS0	OTTHUMG00000150039	ENST00000399132.1:c.1144G>A	4.37:g.109784483C>T	ENSP00000382083:p.Gly382Arg					COL25A1_ENST00000399126.1_Missense_Mutation_p.G382R|COL25A1_ENST00000399127.1_Missense_Mutation_p.G378R	p.G382R	NM_198721.2	NP_942014.1	Q9BXS0	COPA1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000173)	21	1674	-		Hepatocellular(203;0.217)	382			Collagen-like 5.			Missense_Mutation	SNP	ENST00000399132.1	37	c.1144G>A	CCDS43258.1	.	.	.	.	.	.	.	.	.	.	C	17.30	3.354121	0.61293	.	.	ENSG00000188517	ENST00000399132;ENST00000333642;ENST00000401873;ENST00000399127;ENST00000399126;ENST00000443653	D;D;D	0.99637	-5.77;-6.29;-5.77	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	D	0.99834	0.9925	H	0.98351	4.21	0.51233	D	0.999917	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.96673	0.9498	9	.	.	.	-6.1918	19.4425	0.94827	0.0:1.0:0.0:0.0	.	382;382	Q9BXS0-2;Q9BXS0	.;COPA1_HUMAN	R	382;384;363;378;382;312	ENSP00000382083:G382R;ENSP00000382078:G378R;ENSP00000382077:G382R	.	G	-	1	0	COL25A1	110003932	1.000000	0.71417	0.998000	0.56505	0.870000	0.49936	5.845000	0.69437	2.578000	0.87016	0.650000	0.86243	GGA		0.453	COL25A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315938.2	NM_032518		12	30	0	0	0	1	0	12	30					T	109784483	C	T	109784483	3	4	83	1	0	0	0	0	1	0	0	0	3684	661	23	2	976	2	COL25A1	4	109784483	Missense_Mutation	SNP	C	TCGA-EJ-7314-01A-31D-2114-08	14408010	109784483	81369793	15	4295											
HSPA4L	22824	broad.mit.edu	37	chr4	128726278	128726278	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaattgtaggaggagcaacaCgaattcctgcagtgaaagaa	17	7	11	6	1	0	2	0	1	0	1	1	5	1	4	1	2	3	3	1	2	6	3			TCGA-EJ-7314-01A-31D-2114-08	TCGA-EJ-7314-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5029ad2a-780b-4be9-920c-ee48da8e2f42	4aace255-a8e8-4e86-a431-b957c4f80e8d	g.chr4:128726278C>T	ENST00000296464.4	+	9	1447	c.1036C>T	c.(1036-1038)Cga>Tga	p.R346*	HSPA4L_ENST00000505726.1_Nonsense_Mutation_p.R320*|HSPA4L_ENST00000439123.2_Nonsense_Mutation_p.R377*|HSPA4L_ENST00000508776.1_Nonsense_Mutation_p.R346*	NM_014278.2	NP_055093.2	O95757	HS74L_HUMAN	heat shock 70kDa protein 4-like	346					protein folding (GO:0006457)|response to unfolded protein (GO:0006986)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)			central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	31						AGGAGCAACACGAATTCCTGC	0.328																																						ENST00000296464.3																			0				central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	31						c.(1036-1038)Cga>Tga		heat shock 70kDa protein 4-like							52	51	51					4																	128726278		2203	4299	6502	SO:0001587	stop_gained	22824				protein folding|response to unfolded protein	cytoplasm|nucleus	ATP binding|protein binding	g.chr4:128726278C>T	AB023421	CCDS3734.1	4q28	2011-09-07			ENSG00000164070	ENSG00000164070		"Heat shock proteins / HSP70"	17041	protein-coding gene	gene with protein product						10524232	Standard	NM_014278		Approved	APG-1, Osp94, HSPH3	uc003ifm.3	O95757	OTTHUMG00000133302	ENST00000296464.4:c.1036C>T	4.37:g.128726278C>T	ENSP00000296464:p.Arg346*					HSPA4L_ENST00000439123.2_Nonsense_Mutation_p.R377*|HSPA4L_ENST00000508776.1_Nonsense_Mutation_p.R346*|HSPA4L_ENST00000505726.1_Nonsense_Mutation_p.R320*	p.R346*	NM_014278.2	NP_055093.2	O95757	HS74L_HUMAN			9	1447	+			346					A2ICT2|Q4W5M5|Q8IWA2	Nonsense_Mutation	SNP	ENST00000296464.4	37	c.1036C>T	CCDS3734.1	.	.	.	.	.	.	.	.	.	.	C	40	8.261337	0.98732	.	.	ENSG00000164070	ENST00000508776;ENST00000439123;ENST00000296464;ENST00000508549;ENST00000505726	.	.	.	4.71	3.83	0.44106	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.0929	0.59176	0.3286:0.6714:0.0:0.0	.	.	.	.	X	346;377;346;305;320	.	ENSP00000296464:R346X	R	+	1	2	HSPA4L	128945728	1.000000	0.71417	0.996000	0.52242	0.999000	0.98932	3.644000	0.54381	1.271000	0.44313	0.655000	0.94253	CGA		0.328	HSPA4L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257096.3	NM_014278		9	23	0	0	0	1	0	9	23					T	128726278	C	T	128726278	4	4	83	1	0	0	0	0	0	1	0	0	7413	528	19	1	1070	1	HSPA4L	4	128726278	Nonsense_Mutation	SNP	C	TCGA-EJ-7314-01A-31D-2114-08	18941795	128726278	62427998	16	4296											
CAPSL	133690	broad.mit.edu	37	chr5	35910128	35910128	+	Frame_Shift_Del	DEL	T	T	-																															catctccagtcttgtctaacTttctaaaagcttgcatgatt																										TCGA-EJ-7314-01A-31D-2114-08	TCGA-EJ-7314-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5029ad2a-780b-4be9-920c-ee48da8e2f42	4aace255-a8e8-4e86-a431-b957c4f80e8d	g.chr5:35910128delT	ENST00000397367.2	-	4	491	c.365delA	c.(364-366)aagfs	p.K122fs	CAPSL_ENST00000397366.1_Frame_Shift_Del_p.K122fs|CAPSL_ENST00000514524.1_Frame_Shift_Del_p.K122fs	NM_144647.3	NP_653248.3	Q8WWF8	CAPSL_HUMAN	calcyphosine-like	122	EF-hand 3. {ECO:0000255|PROSITE- ProRule:PRU00448}.					cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)			central_nervous_system(1)|kidney(1)|large_intestine(5)|lung(10)|skin(1)|urinary_tract(1)	19	all_lung(31;0.000268)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.167)|Colorectal(62;0.202)			CTTGTCTAACTTTCTAAAAGC	0.388																																						ENST00000397367.2																			0				central_nervous_system(1)|kidney(1)|large_intestine(5)|lung(10)|skin(1)|urinary_tract(1)	19						c.(364-366)agfs		calcyphosine-like							142	137	139					5																	35910128		2203	4300	6503	SO:0001589	frameshift_variant	133690					cytoplasm	calcium ion binding	g.chr5:35910128delT	BC017586	CCDS3912.2	5p13.2	2013-01-10			ENSG00000152611	ENSG00000152611		"EF-hand domain containing"	28375	protein-coding gene	gene with protein product						12477932	Standard	NM_001042625		Approved	MGC26610	uc003jju.1	Q8WWF8	OTTHUMG00000131109	ENST00000397367.2:c.365delA	5.37:g.35910128delT	ENSP00000380524:p.Lys122fs					CAPSL_ENST00000397366.1_Frame_Shift_Del_p.K122fs|CAPSL_ENST00000514524.1_Frame_Shift_Del_p.K122fs	p.K122fs	NM_144647.3	NP_653248.3	Q8WWF8	CAPSL_HUMAN	Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.167)|Colorectal(62;0.202)		4	491	-	all_lung(31;0.000268)		122			EF-hand 3.			Frame_Shift_Del	DEL	ENST00000397367.2	37	c.365delA	CCDS3912.2																																																																																				0.388	CAPSL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253772.2	NM_144647		33	68						33	68	---	---	---	---	-	35910128	T	-	35910128	7	5	83	1	0	1	0	1	0	0	0	0	2639	1609	56	0	269	0	CAPSL	5	35910128	Frame_Shift_Del	DEL	T	TCGA-EJ-7314-01A-31D-2114-08		35910128	145005132	17	4297											
PCDHA8	56140	broad.mit.edu	37	chr5	140222810	140222810	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggcgagatcagcaccactcGtgtcctggacgaagcggact	9	6	14	12	4	1	1	1	0	0	1	3	5	2	3	2	3	2	1	2	3	1	0			TCGA-EJ-7314-01A-31D-2114-08	TCGA-EJ-7314-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5029ad2a-780b-4be9-920c-ee48da8e2f42	4aace255-a8e8-4e86-a431-b957c4f80e8d	g.chr5:140222810G>A	ENST00000531613.1	+	1	1904	c.1904G>A	c.(1903-1905)cGt>cAt	p.R635H	PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA8_ENST00000378123.3_Missense_Mutation_p.R635H|PCDHA1_ENST00000504120.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron	NM_018911.2	NP_061734.1	Q9Y5H6	PCDA8_HUMAN	protocadherin alpha 8	635	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(2)|breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(31)|ovary(2)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(6)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGCACCACTCGTGTCCTGGAC	0.647																																						ENST00000531613.1																			0				NS(2)|breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(31)|ovary(2)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(6)	78						c.(1903-1905)cGt>cAt									112	110	111					5																	140222810		2198	4268	6466	SO:0001583	missense	0							g.chr5:140222810G>A	AF152486	CCDS54919.1	5q31	2010-11-26				ENSG00000204962		"Cadherins / Protocadherins : Clustered"	8674	other	complex locus constituent	"KIAA0345-like 6"	606314				10380929	Standard	NM_018911		Approved			Q9Y5H6		ENST00000531613.1:c.1904G>A	5.37:g.140222810G>A	ENSP00000434655:p.Arg635His					PCDHA5_ENST00000529859.1_Intron|PCDHA8_ENST00000378123.3_Missense_Mutation_p.R635H|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000529310.1_Intron	p.R635H	NM_018911.2	NP_061734.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1904	+								B9EGT7|O75281	Missense_Mutation	SNP	ENST00000531613.1	37	c.1904G>A	CCDS54919.1	.	.	.	.	.	.	.	.	.	.	G	14.21	2.467287	0.43839	.	.	ENSG00000204962	ENST00000531613;ENST00000378123	T;T	0.53857	0.6;0.6	2.93	2.93	0.34026	Cadherin (4);Cadherin-like (1);	0.000000	0.35903	U	0.002912	T	0.70745	0.3259	M	0.83483	2.645	0.09310	N	1	D;D	0.89917	1.0;0.999	D;P	0.63283	0.913;0.84	T	0.65578	-0.6134	10	0.87932	D	0	.	14.3079	0.66395	0.0:0.0:1.0:0.0	.	635;635	Q9Y5H6;Q9Y5H6-2	PCDA8_HUMAN;.	H	635	ENSP00000434655:R635H;ENSP00000367363:R635H	ENSP00000367363:R635H	R	+	2	0	PCDHA8	140202994	0.611000	0.26992	0.405000	0.26409	0.126000	0.20510	3.932000	0.56537	1.624000	0.50355	0.313000	0.20887	CGT		0.647	PCDHA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372830.2	NM_018911		13	76	0	0	0	1	0	13	76					A	140222810	G	A	140222810	3	1	83	1	0	0	0	0	1	0	0	0	11530	1145	40	1	1906	1	PCDHA8	5	140222810	Missense_Mutation	SNP	G	TCGA-EJ-7314-01A-31D-2114-08	104312682	140222810	40692450	18	4298											
LARS	51520	broad.mit.edu	37	chr5	145493811	145493811	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggtgtactcctttcccaggAcaggaactcgtcgaggcccc	7	8	11	15	3	0	0	0	0	0	0	4	3	2	2	4	4	2	1	4	4	2	2			TCGA-EJ-7314-01A-31D-2114-08	TCGA-EJ-7314-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5029ad2a-780b-4be9-920c-ee48da8e2f42	4aace255-a8e8-4e86-a431-b957c4f80e8d	g.chr5:145493811A>C	ENST00000394434.2	-	32	3555	c.3389T>G	c.(3388-3390)gTc>gGc	p.V1130G	RP11-118M9.3_ENST00000514002.1_RNA|LARS_ENST00000545646.1_Missense_Mutation_p.V1084G|LARS_ENST00000510191.1_Missense_Mutation_p.V1076G|LARS_ENST00000274562.9_Missense_Mutation_p.V1103G	NM_020117.9	NP_064502.9	Q9P2J5	SYLC_HUMAN	leucyl-tRNA synthetase	1130					gene expression (GO:0010467)|leucyl-tRNA aminoacylation (GO:0006429)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|leucine-tRNA ligase activity (GO:0004823)			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)|skin(2)|stomach(8)	34			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		L-Leucine(DB00149)	CTTTCCCAGGACAGGAACTCG	0.408																																						ENST00000394434.2																			0				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)|skin(2)|stomach(8)	34						c.(3388-3390)gTc>gGc		leucyl-tRNA synthetase	L-Leucine(DB00149)						76	78	77					5																	145493811		2203	4300	6503	SO:0001583	missense	51520				leucyl-tRNA aminoacylation	cytosol	ATP binding|leucine-tRNA ligase activity|protein binding	g.chr5:145493811A>C	AF151026	CCDS34265.1	5q32	2012-10-02			ENSG00000133706	ENSG00000133706	6.1.1.4	"Aminoacyl tRNA synthetases / Class I"	6512	protein-coding gene	gene with protein product	"leucine tRNA ligase 1, cytoplasmic"	151350				6933703	Standard	NM_020117		Approved	HSPC192, FLJ10595, FLJ21788, LARS1, LEUS, RNTLS	uc003lnx.1	Q9P2J5	OTTHUMG00000163429	ENST00000394434.2:c.3389T>G	5.37:g.145493811A>C	ENSP00000377954:p.Val1130Gly					RP11-118M9.3_ENST00000514002.1_RNA|LARS_ENST00000510191.1_Missense_Mutation_p.V1076G|LARS_ENST00000274562.9_Missense_Mutation_p.V1103G|LARS_ENST00000545646.1_Missense_Mutation_p.V1084G	p.V1130G	NM_020117.9	NP_064502.9	Q9P2J5	SYLC_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		32	3555	-			1130					A2RRR4|A7E266|B4DJ10|Q2TU79|Q9NSE1	Missense_Mutation	SNP	ENST00000394434.2	37	c.3389T>G	CCDS34265.1	.	.	.	.	.	.	.	.	.	.	A	14.21	2.468504	0.43839	.	.	ENSG00000133706	ENST00000394434;ENST00000545646;ENST00000540713;ENST00000510191;ENST00000274562	T;T;T;T	0.64438	-0.09;-0.1;-0.09;-0.1	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	T	0.66268	0.2772	M	0.68952	2.095	0.80722	D	1	P;P;B	0.48589	0.698;0.912;0.002	B;P;B	0.47744	0.114;0.556;0.003	T	0.64495	-0.6394	10	0.22706	T	0.39	.	15.2775	0.73753	1.0:0.0:0.0:0.0	.	1103;1084;1130	B4DER1;F5H698;Q9P2J5	.;.;SYLC_HUMAN	G	1130;1084;439;1076;1103	ENSP00000377954:V1130G;ENSP00000437791:V1084G;ENSP00000426005:V1076G;ENSP00000274562:V1103G	ENSP00000274562:V1103G	V	-	2	0	LARS	145474004	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	8.779000	0.91792	2.102000	0.63906	0.460000	0.39030	GTC		0.408	LARS-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000373367.1	NM_020117		27	71	0	0	0	1	0	27	71					C	145493811	A	C	145493811	3	2	83	1	0	0	0	0	1	0	0	0	8634	275	10	5	145	5	LARS	5	145493811	Missense_Mutation	SNP	A	TCGA-EJ-7314-01A-31D-2114-08	5271001	145493811	35421449	19	4299											
ANKS1A	23294	broad.mit.edu	37	chr6	34857303	34857320	+	In_Frame_Del	DEL	GGCGGCGGCGGCGGCAGC	GGCGGCGGCGGCGGCAGC	-																															gcggcggcggtggctctgggGgcggcggcggcggcagcggc																								rs190026995	byFrequency	TCGA-EJ-7314-01A-31D-2114-08	TCGA-EJ-7314-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5029ad2a-780b-4be9-920c-ee48da8e2f42	4aace255-a8e8-4e86-a431-b957c4f80e8d	g.chr6:34857303_34857320delGGCGGCGGCGGCGGCAGC	ENST00000360359.3	+	1	262_279	c.124_141delGGCGGCGGCGGCGGCAGC	c.(124-141)ggcggcggcggcggcagcdel	p.GGGGGS42del	TAF11_ENST00000361288.4_5'Flank|TAF11_ENST00000420584.2_5'Flank|ANKS1A_ENST00000535627.1_In_Frame_Del_p.GGGGGS42del	NM_015245.2	NP_056060.2	Q92625	ANS1A_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1A	42	Gly-rich.				ephrin receptor signaling pathway (GO:0048013)|neuron remodeling (GO:0016322)|substrate-dependent cell migration (GO:0006929)	cytoplasm (GO:0005737)|neuron projection (GO:0043005)|nucleus (GO:0005634)				cervix(2)|endometrium(3)|large_intestine(4)|lung(16)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						tggctctgggggcggcggcggcggcagcggcggcggcg	0.775																																						ENST00000360359.3																			0				cervix(2)|endometrium(3)|large_intestine(4)|lung(16)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						c.(124-141)del		ankyrin repeat and sterile alpha motif domain containing 1A																																				SO:0001651	inframe_deletion	23294					cytoplasm	protein binding	g.chr6:34857303_34857320delGGCGGCGGCGGCGGCAGC	D86982	CCDS4798.1	6p21.31	2013-01-10	2006-02-17	2006-02-17	ENSG00000064999	ENSG00000064999		"Sterile alpha motif (SAM) domain containing", "Ankyrin repeat domain containing"	20961	protein-coding gene	gene with protein product		608994	"ankyrin repeat and SAM domain containing 1", "ankyrin repeat and sterile alpha motif domain containing 1"	ANKS1		9039502	Standard	NM_015245		Approved	KIAA0229	uc003ojx.4	Q92625	OTTHUMG00000014559	ENST00000360359.3:c.124_141delGGCGGCGGCGGCGGCAGC	6.37:g.34857303_34857320delGGCGGCGGCGGCGGCAGC	ENSP00000353518:p.Gly42_Ser47del					ANKS1A_ENST00000535627.1_In_Frame_Del_p.GGGGGS42del	p.GGGGGS42del	NM_015245.2	NP_056060.2	Q92625	ANS1A_HUMAN			1	262_279	+			42			Gly-rich.		A2RUC1|B4DQW8|Q5JYI9|Q5SYR2|Q86WQ7	In_Frame_Del	DEL	ENST00000360359.3	37	c.124_141delGGCGGCGGCGGCGGCAGC	CCDS4798.1																																																																																				0.775	ANKS1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040262.1	XM_166478		3	4						3	4	---	---	---	---	-	34857320	GGCGGCGGCGGCGGCAGC	-	34857303	7	5	83	1	0	1	0	1	0	0	0	0	688	1232	43	0	126	0	ANKS1A	6	34857303	In_Frame_Del	DEL	GGCGGCGGCGGCGGCAGC	TCGA-EJ-7314-01A-31D-2114-08		34857303	136257764	20	4300											
TRERF1	55809	broad.mit.edu	37	chr6	42196333	42196333	+	Frame_Shift_Del	DEL	T	T	-																															caaaagccgccttctgagccTtttgcctctgttgttcctcc																										TCGA-EJ-7314-01A-31D-2114-08	TCGA-EJ-7314-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5029ad2a-780b-4be9-920c-ee48da8e2f42	9c8720a4-31d3-4da0-aa5f-daaf321b2d88	g.chr6:42196333delT	ENST00000372922.4	-	18	3915	c.3353delA	c.(3352-3354)aagfs	p.K1118fs	TRERF1_ENST00000372917.4_Frame_Shift_Del_p.K1047fs|TRERF1_ENST00000354325.2_Frame_Shift_Del_p.K1035fs|TRERF1_ENST00000340840.2_Frame_Shift_Del_p.K1047fs|TRERF1_ENST00000541110.1_Frame_Shift_Del_p.K1138fs	NM_033502.2	NP_277037.1	Q96PN7	TREF1_HUMAN	transcriptional regulating factor 1	1118	Interacts with CREBBP.				cholesterol catabolic process (GO:0006707)|homeostatic process (GO:0042592)|multicellular organismal development (GO:0007275)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of hormone biosynthetic process (GO:0046885)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|steroid biosynthetic process (GO:0006694)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding, bending (GO:0008301)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|metal ion binding (GO:0046872)|RNA polymerase II transcription cofactor activity (GO:0001104)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			breast(1)|central_nervous_system(2)|endometrium(7)|kidney(1)|large_intestine(12)|lung(13)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(2)	45	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			CTTCTGAGCCTTTTGCCTCTG	0.542																																						ENST00000541110.1																			0				breast(1)|central_nervous_system(2)|endometrium(7)|kidney(1)|large_intestine(12)|lung(13)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(2)	45						c.(3412-3414)agfs		transcriptional regulating factor 1							245	274	264					6																	42196333		2203	4300	6503	SO:0001589	frameshift_variant	55809				cholesterol catabolic process|homeostatic process|multicellular organismal development|positive regulation of transcription, DNA-dependent|regulation of hormone biosynthetic process|steroid biosynthetic process	nucleus	DNA bending activity|ligand-dependent nuclear receptor transcription coactivator activity|RNA polymerase II transcription cofactor activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding	g.chr6:42196333delT	AF297872	CCDS4867.1, CCDS75455.1	6p21.1-p12.1	2012-09-25			ENSG00000124496	ENSG00000124496			18273	protein-coding gene	gene with protein product		610322	"breast cancer anti-estrogen resistance 2"	BCAR2		11349124	Standard	XM_005249223		Approved	TReP-132, HSA277276, RAPA, dJ139D8.5	uc003osd.2	Q96PN7	OTTHUMG00000014698	ENST00000372922.4:c.3353delA	6.37:g.42196333delT	ENSP00000362013:p.Lys1118fs					TRERF1_ENST00000354325.2_Frame_Shift_Del_p.K1035fs|TRERF1_ENST00000372917.4_Frame_Shift_Del_p.K1047fs|TRERF1_ENST00000372922.4_Frame_Shift_Del_p.K1118fs|TRERF1_ENST00000340840.2_Frame_Shift_Del_p.K1047fs	p.K1138fs			Q96PN7	TREF1_HUMAN	Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)		18	3981	-	Colorectal(47;0.196)		1118			Interacts with CREBBP.		Q05GC6|Q7Z6T2|Q7Z6T3|Q9NQ72|Q9NQ73|Q9NUN9	Frame_Shift_Del	DEL	ENST00000372922.4	37	c.3413delA	CCDS4867.1																																																																																				0.542	TRERF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040551.2	NM_033502		7	646						7	646	---	---	---	---	-	42196333	T	-	42196333	7	5	83	1	0	1	0	1	0	0	0	0	16472	1609	56	0	253	0	TRERF1	6	42196333	Frame_Shift_Del	DEL	T	TCGA-EJ-7314-01A-31D-2114-08	7339030	42196333	128918734	21	4301											
C6orf138	442213	broad.mit.edu	37	chr6	47846330	47846330	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtcccatggtcttgcaaggaGctttttatacattgtgttcg	7	16	10	8	1	1	0	0	0	1	0	3	1	2	1	1	2	3	3	1	2	3	7			TCGA-EJ-7314-01A-31D-2114-08	TCGA-EJ-7314-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5029ad2a-780b-4be9-920c-ee48da8e2f42	4aace255-a8e8-4e86-a431-b957c4f80e8d	g.chr6:47846330G>A	ENST00000339488.4	-	3	2283	c.2250C>T	c.(2248-2250)agC>agT	p.S750S		NM_001013732.3	NP_001013754.3	Q6ZW05	PTHD4_HUMAN	patched domain containing 4	750						integral component of membrane (GO:0016021)	hedgehog receptor activity (GO:0008158)										CTTGCAAGGAGCTTTTTATAC	0.433																																						ENST00000339488.4																			0											c.(2248-2250)agC>agT		patched domain containing 4							95	88	90					6																	47846330		2203	4300	6503	SO:0001819	synonymous_variant	442213					integral to membrane	hedgehog receptor activity	g.chr6:47846330G>A		CCDS34473.2	6p12.3	2012-02-06	2012-02-06	2012-02-06	ENSG00000244694	ENSG00000244694			21345	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 138"	C6orf138			Standard	NM_001013732		Approved	dJ402H5.2, FLJ41841	uc011dwm.2	Q6ZW05	OTTHUMG00000150404	ENST00000339488.4:c.2250C>T	6.37:g.47846330G>A							p.S750S	NM_001013732.3	NP_001013754.3	Q6ZW05	CF138_HUMAN			3	2283	-			750					B0QZ29|B4DRK3|Q5T884	Silent	SNP	ENST00000339488.4	37	c.2250C>T	CCDS34473.2																																																																																				0.433	PTCHD4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317987.2	NM_001013732		9	23	0	0	0	1	0	9	23					A	47846330	G	A	47846330	2	1	83	1	0	0	0	0	0	0	0	1	2332	962	34	3		3	C6orf138	6	47846330	Silent	SNP	G	TCGA-EJ-7314-01A-31D-2114-08	5649997	47846330	123268737	22	4302											
FAM120B	84498	broad.mit.edu	37	chr6	170627925	170627925	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atacaggccctgaatccaggCaagaagttttaatacggaca	15	8	9	9	1	0	2	0	1	0	1	1	3	1	3	2	3	2	2	2	3	6	4			TCGA-EJ-7314-01A-31D-2114-08	TCGA-EJ-7314-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5029ad2a-780b-4be9-920c-ee48da8e2f42	4aace255-a8e8-4e86-a431-b957c4f80e8d	g.chr6:170627925C>T	ENST00000476287.1	+	2	1555	c.1447C>T	c.(1447-1449)Caa>Taa	p.Q483*	FAM120B_ENST00000252510.9_Intron|FAM120B_ENST00000540480.1_Nonsense_Mutation_p.Q495*|FAM120B_ENST00000537664.1_Nonsense_Mutation_p.Q506*	NM_032448.1	NP_115824.1	Q96EK7	F120B_HUMAN	family with sequence similarity 120B	483					cell differentiation (GO:0030154)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(1)|prostate(2)|skin(2)	44		Breast(66;0.000338)|Esophageal squamous(34;0.241)		OV - Ovarian serous cystadenocarcinoma(33;3.94e-22)|BRCA - Breast invasive adenocarcinoma(81;6.47e-06)|GBM - Glioblastoma multiforme(31;0.0899)		TGAATCCAGGCAAGAAGTTTT	0.453																																						ENST00000476287.1																			0				endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(1)|prostate(2)|skin(2)	44						c.(1447-1449)Caa>Taa		family with sequence similarity 120B							111	117	115					6																	170627925		2203	4300	6503	SO:0001587	stop_gained	84498				cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	g.chr6:170627925C>T	AB058741	CCDS5314.1, CCDS75555.1	6q27	2011-04-13	2006-07-04	2006-07-04	ENSG00000112584	ENSG00000112584			21109	protein-coding gene	gene with protein product	"PPARgamma constitutive coactivator 1", "constitutive coactivator of PPAR-gamma"	612266	"KIAA1838"	KIAA1838		14585507	Standard	NM_032448		Approved	PGCC1, CCPG	uc003qxp.3	Q96EK7	OTTHUMG00000016080	ENST00000476287.1:c.1447C>T	6.37:g.170627925C>T	ENSP00000417970:p.Gln483*					FAM120B_ENST00000540480.1_Nonsense_Mutation_p.Q495*|FAM120B_ENST00000537664.1_Nonsense_Mutation_p.Q506*|FAM120B_ENST00000252510.9_Intron	p.Q483*	NM_032448.1	NP_115824.1	Q96EK7	F120B_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;3.94e-22)|BRCA - Breast invasive adenocarcinoma(81;6.47e-06)|GBM - Glioblastoma multiforme(31;0.0899)	2	1555	+		Breast(66;0.000338)|Esophageal squamous(34;0.241)	483					B4DL34|Q86V68|Q96JI9	Nonsense_Mutation	SNP	ENST00000476287.1	37	c.1447C>T	CCDS5314.1	.	.	.	.	.	.	.	.	.	.	-	19.38	3.817043	0.70912	.	.	ENSG00000112584	ENST00000540480;ENST00000537664;ENST00000476287	.	.	.	0.668	0.668	0.17912	.	1.671780	0.03925	U	0.284196	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.05620	T	0.96	.	.	.	.	.	.	.	.	X	495;506;483	.	ENSP00000436640:Q483X	Q	+	1	0	FAM120B	170469850	0.011000	0.17503	0.018000	0.16275	0.046000	0.14306	1.261000	0.32980	0.623000	0.30267	0.205000	0.17691	CAA		0.453	FAM120B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000043259.2	NM_032448		9	200	0	0	0	1	0	9	200					T	170627925	C	T	170627925	4	4	83	1	0	0	0	0	0	1	0	0	5417	711	25	3	1449	3	FAM120B	6	170627925	Nonsense_Mutation	SNP	C	TCGA-EJ-7314-01A-31D-2114-08	122781595	170627925	487142	23	4303											
FABP4	2167	broad.mit.edu	37	chr8	82391107	82391107	+	Frame_Shift_Del	DEL	C	C	-																															aacgtcccttggcttatgctCtctcataaactctcgtggaa																										TCGA-EJ-7314-01A-31D-2114-08	TCGA-EJ-7314-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5029ad2a-780b-4be9-920c-ee48da8e2f42	4aace255-a8e8-4e86-a431-b957c4f80e8d	g.chr8:82391107delC	ENST00000256104.4	-	4	487	c.392delG	c.(391-393)agafs	p.R131fs	RP11-157I4.4_ENST00000524085.2_RNA|FABP4_ENST00000518669.1_5'UTR	NM_001442.2	NP_001433.1	P15090	FABP4_HUMAN	fatty acid binding protein 4, adipocyte	131					brown fat cell differentiation (GO:0050873)|cellular response to lithium ion (GO:0071285)|cholesterol homeostasis (GO:0042632)|cytokine production (GO:0001816)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of inflammatory response (GO:0050729)|small molecule metabolic process (GO:0044281)|triglyceride catabolic process (GO:0019433)|white fat cell differentiation (GO:0050872)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|lipid particle (GO:0005811)|nucleus (GO:0005634)	fatty acid binding (GO:0005504)|transporter activity (GO:0005215)			breast(2)|central_nervous_system(1)|large_intestine(1)|ovary(1)|skin(1)	6			Epithelial(68;0.213)			GGCTTATGCTCTCTCATAAAC	0.383																																					NSCLC(35;550 1252 19644 48360)	ENST00000256104.4																			0				breast(2)|central_nervous_system(1)|large_intestine(1)|ovary(1)|skin(1)	6						c.(391-393)aafs		fatty acid binding protein 4, adipocyte							191	159	170					8																	82391107		2203	4300	6503	SO:0001589	frameshift_variant	2167				triglyceride catabolic process	cytoplasm|nucleus|soluble fraction	fatty acid binding|protein binding|transporter activity	g.chr8:82391107delC	J02874	CCDS6230.1	8q21.13	2013-03-01			ENSG00000170323	ENSG00000170323		"Fatty acid binding protein family"	3559	protein-coding gene	gene with protein product		600434				2481498	Standard	NM_001442		Approved	A-FABP, aP2	uc003ycd.2	P15090	OTTHUMG00000164602	ENST00000256104.4:c.392delG	8.37:g.82391107delC	ENSP00000256104:p.Arg131fs					FABP4_ENST00000518669.1_5'UTR|RP11-157I4.4_ENST00000524085.2_RNA	p.R131fs	NM_001442.2	NP_001433.1	P15090	FABP4_HUMAN	Epithelial(68;0.213)		4	487	-			131					Q6IBA1	Frame_Shift_Del	DEL	ENST00000256104.4	37	c.392delG	CCDS6230.1																																																																																				0.383	FABP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379368.1	NM_001442		18	59						18	59	---	---	---	---	-	82391107	C	-	82391107	7	5	83	1	0	1	0	1	0	0	0	0	5359	913	32	0	10	0	FABP4	8	82391107	Frame_Shift_Del	DEL	C	TCGA-EJ-7314-01A-31D-2114-08		82391107	63972915	24	4304											
PDP1	54704	broad.mit.edu	37	chr8	94935560	94935560	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atgggttgtgggagactatgCataggcaggatgtggttagg	9	11	18	3	0	0	1	0	0	0	1	0	3	0	2	0	6	1	4	0	6	3	4			TCGA-EJ-7314-01A-31D-2114-08	TCGA-EJ-7314-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5029ad2a-780b-4be9-920c-ee48da8e2f42	4aace255-a8e8-4e86-a431-b957c4f80e8d	g.chr8:94935560C>T	ENST00000297598.4	+	2	1542	c.1273C>T	c.(1273-1275)Cat>Tat	p.H425Y	PDP1_ENST00000517764.1_Missense_Mutation_p.H425Y|PDP1_ENST00000396200.3_Missense_Mutation_p.H450Y|PDP1_ENST00000520728.1_Missense_Mutation_p.H425Y	NM_001161781.1|NM_018444.3	NP_001155253.1|NP_060914.2	Q9P0J1	PDP1_HUMAN	pyruvate dehyrogenase phosphatase catalytic subunit 1	425					cellular metabolic process (GO:0044237)|peptidyl-threonine dephosphorylation (GO:0035970)|pyruvate metabolic process (GO:0006090)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)	[pyruvate dehydrogenase (lipoamide)] phosphatase activity (GO:0004741)|metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|liver(1)|lung(5)|ovary(1)|pancreas(1)|skin(2)	18						GGAGACTATGCATAGGCAGGA	0.498																																						ENST00000396200.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|liver(1)|lung(5)|ovary(1)|pancreas(1)|skin(2)	18						c.(1348-1350)Cat>Tat		pyruvate dehyrogenase phosphatase catalytic subunit 1							103	98	100					8																	94935560		2203	4300	6503	SO:0001583	missense	54704				pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix|protein serine/threonine phosphatase complex	[pyruvate dehydrogenase (lipoamide)] phosphatase activity	g.chr8:94935560C>T	AF155661	CCDS6259.1, CCDS55262.1	8q22.1	2012-04-17	2009-06-12	2009-06-12	ENSG00000164951	ENSG00000164951	3.1.3.43	"Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"	9279	protein-coding gene	gene with protein product		605993	"protein phosphatase 2C, magnesium-dependent, catalytic subunit"	PPM2C		8396421	Standard	NM_001161779		Approved	PDP, PDH	uc003ygf.3	Q9P0J1		ENST00000297598.4:c.1273C>T	8.37:g.94935560C>T	ENSP00000297598:p.His425Tyr					PDP1_ENST00000517764.1_Missense_Mutation_p.H425Y|PDP1_ENST00000297598.4_Missense_Mutation_p.H425Y|PDP1_ENST00000520728.1_Missense_Mutation_p.H425Y	p.H450Y	NM_001161779.1	NP_001155251.1	Q9P0J1	PDP1_HUMAN			3	1624	+			425					B3KX71|J3KPU0|Q5U5K1	Missense_Mutation	SNP	ENST00000297598.4	37	c.1348C>T	CCDS6259.1	.	.	.	.	.	.	.	.	.	.	C	16.49	3.137410	0.56936	.	.	ENSG00000164951	ENST00000297598;ENST00000520728;ENST00000396200;ENST00000517764	T;T;T;T	0.09350	2.99;2.99;2.99;2.99	6.03	6.03	0.97812	Protein phosphatase 2C-like (5);	0.000000	0.85682	D	0.000000	T	0.25680	0.0625	L	0.44542	1.39	0.80722	D	1	D;D	0.61697	0.99;0.99	P;P	0.59115	0.852;0.852	T	0.00034	-1.2265	10	0.87932	D	0	-19.4901	20.5568	0.99304	0.0:1.0:0.0:0.0	.	476;425	B4DYX8;Q9P0J1	.;PDP1_HUMAN	Y	425;425;450;425	ENSP00000297598:H425Y;ENSP00000428317:H425Y;ENSP00000379503:H450Y;ENSP00000430380:H425Y	ENSP00000297598:H425Y	H	+	1	0	PDP1	95004736	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.974000	0.70465	2.861000	0.98227	0.655000	0.94253	CAT		0.498	PDP1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000378415.2	NM_018444		7	120	0	0	0	1	0	7	120					T	94935560	C	T	94935560	3	4	83	1	0	0	0	0	1	0	0	0	11685	710	25	3	1456	3	PDP1	8	94935560	Missense_Mutation	SNP	C	TCGA-EJ-7314-01A-31D-2114-08	12544453	94935560	51428462	25	4305											
VPS13B	157680	broad.mit.edu	37	chr8	100866333	100866333	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cagccagtaaatttgctcgtCagcatccacgcttccctcaa	10	10	6	15	2	2	0	2	0	0	0	5	0	4	0	3	0	3	4	3	0	3	3			TCGA-EJ-7314-01A-31D-2114-08	TCGA-EJ-7314-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5029ad2a-780b-4be9-920c-ee48da8e2f42	4aace255-a8e8-4e86-a431-b957c4f80e8d	g.chr8:100866333C>T	ENST00000358544.2	+	56	10902	c.10791C>T	c.(10789-10791)gtC>gtT	p.V3597V	VPS13B_ENST00000395996.1_3'UTR|VPS13B_ENST00000357162.2_Silent_p.V3572V	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	3597					protein transport (GO:0015031)					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			ATTTGCTCGTCAGCATCCACG	0.537																																					Colon(161;2205 2542 7338 31318)	ENST00000358544.2																			0				NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193						c.(10789-10791)gtC>gtT		vacuolar protein sorting 13 homolog B (yeast)							116	98	105					8																	100866333		2203	4300	6503	SO:0001819	synonymous_variant	157680				protein transport			g.chr8:100866333C>T	AJ608772	CCDS6280.1, CCDS6281.1, CCDS6283.1, CCDS47903.1	8q22-q23	2014-09-17	2006-12-19	2005-04-08	ENSG00000132549	ENSG00000132549			2183	protein-coding gene	gene with protein product		607817	"Cohen syndrome 1"	CHS1, COH1		7920642, 15498460	Standard	NM_181661		Approved		uc003yiv.4	Q7Z7G8	OTTHUMG00000140383	ENST00000358544.2:c.10791C>T	8.37:g.100866333C>T						VPS13B_ENST00000395996.1_3'UTR|VPS13B_ENST00000357162.2_Silent_p.V3572V	p.V3597V	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.00636)		56	10902	+	Breast(36;3.73e-07)		3597					C9JD30|Q709C6|Q709C7|Q7Z7G4|Q7Z7G5|Q7Z7G6|Q7Z7G7|Q8NB77|Q9NWV1|Q9Y4E7	Silent	SNP	ENST00000358544.2	37	c.10791C>T	CCDS6280.1																																																																																				0.537	VPS13B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000277138.1	NM_184042		10	80	0	0	0	1	0	10	80					T	100866333	C	T	100866333	2	4	83	1	0	0	0	0	0	0	0	1	17187	813	29	3		3	VPS13B	8	100866333	Silent	SNP	C	TCGA-EJ-7314-01A-31D-2114-08	5930773	100866333	45497689	26	4306											
ASPN	54829	broad.mit.edu	37	chr9	95228754	95228754	+	Frame_Shift_Del	DEL	T	T	-																															aagattaagtggtatttcacTtagttgattgtgggacagat																										TCGA-EJ-7314-01A-31D-2114-08	TCGA-EJ-7314-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5029ad2a-780b-4be9-920c-ee48da8e2f42	4aace255-a8e8-4e86-a431-b957c4f80e8d	g.chr9:95228754delT	ENST00000375544.3	-	4	730	c.487delA	c.(487-489)agtfs	p.S163fs	ASPN_ENST00000375543.1_Frame_Shift_Del_p.S163fs|ASPN_ENST00000395538.3_Frame_Shift_Del_p.S163fs|CENPP_ENST00000375587.3_Intron	NM_017680.4	NP_060150	Q9BXN1	ASPN_HUMAN	asporin	163					bone mineralization (GO:0030282)|negative regulation of tooth mineralization (GO:0070171)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)	proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|skin(1)	9						GGTATTTCACTTAGTTGATTG	0.373																																						ENST00000375544.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|skin(1)	9						c.(487-489)gtfs		asporin							225	212	217					9																	95228754		2203	4300	6503	SO:0001589	frameshift_variant	54829				bone mineralization|negative regulation of tooth mineralization|negative regulation of transforming growth factor beta receptor signaling pathway	proteinaceous extracellular matrix	calcium ion binding	g.chr9:95228754delT	AF316824		9q22.31	2008-05-14	2007-02-15		ENSG00000106819	ENSG00000106819		"Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"	14872	protein-coding gene	gene with protein product	"asporin proteoglycan"	608135	"asporin (LRR class 1)"				Standard	NM_017680		Approved	FLJ20129, SLRR1C, PLAP1	uc004ase.2	Q9BXN1	OTTHUMG00000020227	ENST00000375544.3:c.487delA	9.37:g.95228754delT	ENSP00000364694:p.Ser163fs					ASPN_ENST00000375543.1_Frame_Shift_Del_p.S163fs|CENPP_ENST00000375587.3_Intron|ASPN_ENST00000395538.3_Frame_Shift_Del_p.S163fs	p.S163fs	NM_017680.4	NP_060150.4	Q9BXN1	ASPN_HUMAN			4	730	-			163					Q5TBF3|Q96K79|Q96LD0|Q9NXP3	Frame_Shift_Del	DEL	ENST00000375544.3	37	c.487delA																																																																																					0.373	ASPN-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000053094.1	NM_017680		22	110						22	110	---	---	---	---	-	95228754	T	-	95228754	7	5	83	1	0	1	0	1	0	0	0	0	1057	1609	56	0	675	0	ASPN	9	95228754	Frame_Shift_Del	DEL	T	TCGA-EJ-7314-01A-31D-2114-08		95228754	45984677	27	4307											
PRTFDC1	56952	broad.mit.edu	37	chr10	25226288	25226288	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcataatatccttggccagcCgctcaattctgaaagaagga	13	10	8	10	1	3	2	2	1	1	1	4	3	4	3	3	2	1	1	3	2	5	4			TCGA-EJ-7314-01A-31D-2114-08	TCGA-EJ-7314-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5029ad2a-780b-4be9-920c-ee48da8e2f42	4aace255-a8e8-4e86-a431-b957c4f80e8d	g.chr10:25226288C>T	ENST00000320152.6	-	3	192	c.164G>A	c.(163-165)cGg>cAg	p.R55Q	PRTFDC1_ENST00000376376.3_Missense_Mutation_p.R55Q|PRTFDC1_ENST00000376378.1_Missense_Mutation_p.R55Q	NM_020200.5	NP_064585.1	Q9NRG1	PRDC1_HUMAN	phosphoribosyl transferase domain containing 1	55					nucleoside metabolic process (GO:0009116)	cytosol (GO:0005829)	magnesium ion binding (GO:0000287)|nucleotide binding (GO:0000166)|protein homodimerization activity (GO:0042803)			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	9						CTTGGCCAGCCGCTCAATTCT	0.368																																						ENST00000320152.6																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	9						c.(163-165)cGg>cAg		phosphoribosyl transferase domain containing 1							69	70	70					10																	25226288		2203	4300	6503	SO:0001583	missense	56952				adenine salvage|central nervous system neuron development|cerebral cortex neuron differentiation|cytolysis|dendrite morphogenesis|GMP salvage|grooming behavior|hypoxanthine metabolic process|IMP salvage|lymphocyte proliferation|positive regulation of dopamine metabolic process|purine ribonucleoside salvage|response to amphetamine|striatum development	cytosol	hypoxanthine phosphoribosyltransferase activity|magnesium ion binding|nucleotide binding|protein homodimerization activity	g.chr10:25226288C>T	AF226056	CCDS7145.1, CCDS60506.1	10p12.31	2003-11-10			ENSG00000099256	ENSG00000099256			23333	protein-coding gene	gene with protein product		610751					Standard	XM_005252537		Approved	HHGP	uc001ise.1	Q9NRG1	OTTHUMG00000017829	ENST00000320152.6:c.164G>A	10.37:g.25226288C>T	ENSP00000318602:p.Arg55Gln					PRTFDC1_ENST00000376376.3_Missense_Mutation_p.R55Q|PRTFDC1_ENST00000376378.1_Missense_Mutation_p.R55Q	p.R55Q	NM_020200.5	NP_064585.1	Q9NRG1	PRDC1_HUMAN			3	192	-			55					B7Z1Z3|Q53HA7|Q59EL9|Q5VV18|Q5VV20	Missense_Mutation	SNP	ENST00000320152.6	37	c.164G>A	CCDS7145.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.293702	0.80914	.	.	ENSG00000099256	ENST00000320152;ENST00000358336;ENST00000376378;ENST00000376376	D;D;D	0.99741	-5.82;-5.82;-6.6	5.1	1.15	0.20763	Phosphoribosyltransferase (1);	0.251980	0.38492	N	0.001677	D	0.99306	0.9757	M	0.69463	2.115	0.45056	D	0.998078	P;D	0.65815	0.769;0.995	B;P	0.57425	0.021;0.82	D	0.98519	1.0622	10	0.56958	D	0.05	.	10.2495	0.43360	0.0:0.7284:0.0:0.2716	.	55;55	Q9NRG1-2;Q9NRG1	.;PRDC1_HUMAN	Q	55	ENSP00000318602:R55Q;ENSP00000365558:R55Q;ENSP00000365556:R55Q	ENSP00000318602:R55Q	R	-	2	0	PRTFDC1	25266294	0.270000	0.24152	0.958000	0.39756	0.992000	0.81027	2.018000	0.40991	0.337000	0.23665	0.655000	0.94253	CGG		0.368	PRTFDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047243.2	NM_020200		3	48	0	0	0	1	0	3	48					T	25226288	C	T	25226288	3	4	83	1	0	0	0	0	1	0	0	0	12637	652	23	2	541	2	PRTFDC1	10	25226288	Missense_Mutation	SNP	C	TCGA-EJ-7314-01A-31D-2114-08		25226288	110308459	28	4308											
JMJD1C	221037	broad.mit.edu	37	chr10	64967187	64967187	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gataaagaggaaattacttcTgaaccaccccagctggaaac	16	7	8	10	0	1	2	0	1	1	1	1	5	1	4	3	2	4	1	3	2	6	3			TCGA-EJ-7314-01A-31D-2114-08	TCGA-EJ-7314-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5029ad2a-780b-4be9-920c-ee48da8e2f42	4aace255-a8e8-4e86-a431-b957c4f80e8d	g.chr10:64967187T>G	ENST00000399262.2	-	10	4460	c.4242A>C	c.(4240-4242)tcA>tcC	p.S1414S	JMJD1C_ENST00000542921.1_Silent_p.S1232S|JMJD1C_ENST00000402544.1_Silent_p.S1195S|JMJD1C_ENST00000399251.1_Silent_p.S1195S	NM_032776.1	NP_116165.1	Q15652	JHD2C_HUMAN	jumonji domain containing 1C	1414					blood coagulation (GO:0007596)|chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	intracellular (GO:0005622)|nucleoplasm (GO:0005654)	dioxygenase activity (GO:0051213)|metal ion binding (GO:0046872)|thyroid hormone receptor binding (GO:0046966)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	77	Prostate(12;0.0119)|all_hematologic(501;0.191)					AAATTACTTCTGAACCACCCC	0.408																																						ENST00000399262.2																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	77						c.(4240-4242)tcA>tcC		jumonji domain containing 1C							124	123	123					10																	64967187		1932	4128	6060	SO:0001819	synonymous_variant	221037				blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding	g.chr10:64967187T>G	L40411	CCDS41532.1, CCDS60538.1	10q22.1	2011-05-25	2004-03-31	2004-04-01	ENSG00000171988	ENSG00000171988			12313	protein-coding gene	gene with protein product		604503	"thyroid hormone receptor interactor 8"	TRIP8		7776974	Standard	XM_005269624		Approved	DKFZp761F0118, KIAA1380, FLJ14374	uc001jmn.3	Q15652	OTTHUMG00000018311	ENST00000399262.2:c.4242A>C	10.37:g.64967187T>G						JMJD1C_ENST00000399251.1_Silent_p.S1195S|JMJD1C_ENST00000402544.1_Silent_p.S1195S|JMJD1C_ENST00000542921.1_Silent_p.S1232S	p.S1414S	NM_032776.1	NP_116165.1	Q15652	JHD2C_HUMAN			10	4460	-	Prostate(12;0.0119)|all_hematologic(501;0.191)		1414					A0T124|Q5SQZ8|Q5SQZ9|Q5SR00|Q7Z3E7|Q8N3U0|Q96KB9|Q9P2G7	Silent	SNP	ENST00000399262.2	37	c.4242A>C	CCDS41532.1	.	.	.	.	.	.	.	.	.	.	T	3.775	-0.046928	0.07407	.	.	ENSG00000171988	ENST00000327520	.	.	.	5.72	3.25	0.37280	.	.	.	.	.	T	0.56277	0.1974	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.51172	-0.8739	4	.	.	.	-5.3966	7.3828	0.26866	0.0:0.0688:0.2757:0.6555	.	.	.	.	P	100	.	.	Q	-	2	0	JMJD1C	64637193	0.998000	0.40836	1.000000	0.80357	0.944000	0.59088	0.387000	0.20718	0.963000	0.38082	0.482000	0.46254	CAG		0.408	JMJD1C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048249.2	NM_004241		17	148	0	0	0	1	0	17	148					G	64967187	T	G	64967187	2	3	83	1	0	0	0	0	0	0	0	1	7950	1567	55	5		5	JMJD1C	10	64967187	Silent	SNP	T	TCGA-EJ-7314-01A-31D-2114-08	39740899	64967187	70567560	29	4309											
ADRB1	153	broad.mit.edu	37	chr10	115804993	115804993	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttcaactggctgggctacGccaactcggccttcaacccc	7	9	8	17	2	3	0	2	0	1	0	4	0	3	0	4	3	4	2	4	3	4	3			TCGA-EJ-7314-01A-31D-2114-08	TCGA-EJ-7314-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5029ad2a-780b-4be9-920c-ee48da8e2f42	4aace255-a8e8-4e86-a431-b957c4f80e8d	g.chr10:115804993G>A	ENST00000369295.2	+	1	1188	c.1102G>A	c.(1102-1104)Gcc>Acc	p.A368T		NM_000684.2	NP_000675.1	P08588	ADRB1_HUMAN	adrenoceptor beta 1	368					activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-activating adrenergic receptor signaling pathway (GO:0071880)|aging (GO:0007568)|apoptotic process (GO:0006915)|brown fat cell differentiation (GO:0050873)|diet induced thermogenesis (GO:0002024)|fear response (GO:0042596)|glycogen catabolic process (GO:0005980)|heat generation (GO:0031649)|lipid homeostasis (GO:0055088)|memory (GO:0007613)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of smooth muscle contraction (GO:0045986)|negative regulation of urine volume (GO:0035811)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of cation channel activity (GO:2001259)|positive regulation of cell growth involved in cardiac muscle cell development (GO:0061051)|positive regulation of heart rate by epinephrine-norepinephrine (GO:0001996)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of renin secretion into blood stream (GO:1900135)|positive regulation of saliva secretion (GO:0046878)|positive regulation of systemic arterial blood pressure (GO:0003084)|positive regulation of the force of heart contraction by norepinephrine (GO:0003061)|protein localization to organelle (GO:0033365)|regulation of calcium ion transport (GO:0051924)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|response to cold (GO:0009409)|Rho protein signal transduction (GO:0007266)|sensory perception of pain (GO:0019233)|vasodilation by norepinephrine-epinephrine involved in regulation of systemic arterial blood pressure (GO:0002025)|wound healing (GO:0042060)	early endosome (GO:0005769)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	alpha-2A adrenergic receptor binding (GO:0031694)|beta-adrenergic receptor activity (GO:0004939)|beta1-adrenergic receptor activity (GO:0004940)|dopamine binding (GO:0035240)|drug binding (GO:0008144)|epinephrine binding (GO:0051379)|norepinephrine binding (GO:0051380)|PDZ domain binding (GO:0030165)|protein heterodimerization activity (GO:0046982)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|receptor signaling protein activity (GO:0005057)			large_intestine(4)|lung(1)|upper_aerodigestive_tract(1)	6		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0124)|all cancers(201;0.0298)	Acebutolol(DB01193)|Alprenolol(DB00866)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amphetamine(DB00182)|Arbutamine(DB01102)|Asenapine(DB06216)|Atenolol(DB00335)|Betaxolol(DB00195)|Bethanidine(DB00217)|Bevantolol(DB01295)|Bisoprolol(DB00612)|Bopindolol(DB08807)|Bupranolol(DB08808)|Cabergoline(DB00248)|Carteolol(DB00521)|Carvedilol(DB01136)|Clenbuterol(DB01407)|Desipramine(DB01151)|Dobutamine(DB00841)|Dronedarone(DB04855)|Droxidopa(DB06262)|Ephedra(DB01363)|Epinephrine(DB00668)|Esmolol(DB00187)|Fenoterol(DB01288)|Isoetarine(DB00221)|Isoprenaline(DB01064)|Labetalol(DB00598)|Levobunolol(DB01210)|Loxapine(DB00408)|Mephentermine(DB01365)|Metipranolol(DB01214)|Metoprolol(DB00264)|Mirtazapine(DB00370)|Nadolol(DB01203)|Nebivolol(DB04861)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxprenolol(DB01580)|Penbutolol(DB01359)|Phenylpropanolamine(DB00397)|Pindolol(DB00960)|Pirbuterol(DB01291)|Practolol(DB01297)|Propranolol(DB00571)|Pseudoephedrine(DB00852)|Salbutamol(DB01001)|Sotalol(DB00489)|Timolol(DB00373)|Trimipramine(DB00726)	GCTGGGCTACGCCAACTCGGC	0.672																																						ENST00000369295.2																			0				large_intestine(4)|lung(1)|upper_aerodigestive_tract(1)	6						c.(1102-1104)Gcc>Acc		adrenoceptor beta 1	Acebutolol(DB01193)|Alprenolol(DB00866)|Amiodarone(DB01118)|Arbutamine(DB01102)|Atenolol(DB00335)|Betaxolol(DB00195)|Bevantolol(DB01295)|Bisoprolol(DB00612)|Bretylium(DB01158)|Carteolol(DB00521)|Carvedilol(DB01136)|Desipramine(DB01151)|Dobutamine(DB00841)|Dopamine(DB00988)|Epinephrine(DB00668)|Esmolol(DB00187)|Isoetharine(DB00221)|Isoproterenol(DB01064)|Labetalol(DB00598)|Levobunolol(DB01210)|Metipranolol(DB01214)|Metoprolol(DB00264)|Nadolol(DB01203)|Norepinephrine(DB00368)|Oxprenolol(DB01580)|Penbutolol(DB01359)|Pindolol(DB00960)|Practolol(DB01297)|Propranolol(DB00571)|Risperidone(DB00734)|Timolol(DB00373)|Ziprasidone(DB00246)						30	21	24					10																	115804993		2197	4284	6481	SO:0001583	missense	153				positive regulation of cAMP biosynthetic process	integral to plasma membrane	alpha-2A adrenergic receptor binding|beta1-adrenergic receptor activity|protein heterodimerization activity	g.chr10:115804993G>A	J03019	CCDS7586.1	10q25.3	2012-08-08	2012-05-09		ENSG00000043591	ENSG00000043591		"GPCR / Class A : Adrenoceptors : beta"	285	protein-coding gene	gene with protein product		109630	"adrenergic, beta-1-, receptor"	ADRB1R			Standard	NM_000684		Approved		uc001lba.3	P08588	OTTHUMG00000019079	ENST00000369295.2:c.1102G>A	10.37:g.115804993G>A	ENSP00000358301:p.Ala368Thr						p.A368T	NM_000684.2	NP_000675.1	P08588	ADRB1_HUMAN		Epithelial(162;0.0124)|all cancers(201;0.0298)	1	1188	+		Colorectal(252;0.172)|Breast(234;0.188)	368					B0LPE2|Q5T5Y4|Q9UKG7|Q9UKG8	Missense_Mutation	SNP	ENST00000369295.2	37	c.1102G>A	CCDS7586.1	.	.	.	.	.	.	.	.	.	.	G	19.85	3.903174	0.72754	.	.	ENSG00000043591	ENST00000369295	T	0.37915	1.17	3.81	3.81	0.43845	GPCR, rhodopsin-like superfamily (1);	0.156956	0.42682	U	0.000668	T	0.46328	0.1387	M	0.74258	2.255	0.33339	D	0.569604	D	0.56746	0.977	P	0.52514	0.701	T	0.60306	-0.7289	10	0.33141	T	0.24	.	9.8844	0.41253	0.0971:0.0:0.9029:0.0	.	368	P08588	ADRB1_HUMAN	T	368	ENSP00000358301:A368T	ENSP00000358301:A368T	A	+	1	0	ADRB1	115794983	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.201000	0.65163	1.836000	0.53414	0.484000	0.47621	GCC		0.672	ADRB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050448.1			3	24	0	0	0	1	0	3	24					A	115804993	G	A	115804993	3	1	83	1	0	0	0	0	1	0	0	0	340	1087	38	1	1104	1	ADRB1	10	115804993	Missense_Mutation	SNP	G	TCGA-EJ-7314-01A-31D-2114-08	50837806	115804993	19729754	30	4310											
VAX1	11023	broad.mit.edu	37	chr10	118897516	118897516	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gttcttcgagacccgggcagCctcggcgtccgagtggcatc	5	8	14	14	5	1	1	0	0	1	1	5	3	2	1	3	3	1	3	3	3	0	2			TCGA-EJ-7314-01A-31D-2114-08	TCGA-EJ-7314-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5029ad2a-780b-4be9-920c-ee48da8e2f42	4aace255-a8e8-4e86-a431-b957c4f80e8d	g.chr10:118897516C>A	ENST00000369206.5	-	1	51	c.52G>T	c.(52-54)Gct>Tct	p.A18S	VAX1_ENST00000277905.2_Missense_Mutation_p.A18S	NM_001112704.1	NP_001106175.1	Q5SQQ9	VAX1_HUMAN	ventral anterior homeobox 1	18					axon guidance (GO:0007411)|brain development (GO:0007420)|camera-type eye development (GO:0043010)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|palate development (GO:0060021)|skeletal muscle cell differentiation (GO:0035914)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|large_intestine(1)|lung(8)|ovary(2)	12				all cancers(201;0.0108)		ACCCGGGCAGCCTCGGCGTCC	0.552																																						ENST00000277905.2																			0				endometrium(1)|large_intestine(1)|lung(8)|ovary(2)	12						c.(52-54)Gct>Tct		ventral anterior homeobox 1							44	49	47					10																	118897516		2203	4300	6503	SO:0001583	missense	11023					nucleus	sequence-specific DNA binding	g.chr10:118897516C>A	AK127095	CCDS7597.1, CCDS44483.1	10q26.11	2011-06-20			ENSG00000148704	ENSG00000148704		"Homeoboxes / ANTP class : NKL subclass"	12660	protein-coding gene	gene with protein product		604294				9636075, 10485894	Standard	NM_199131		Approved		uc009xyx.3	Q5SQQ9	OTTHUMG00000019117	ENST00000369206.5:c.52G>T	10.37:g.118897516C>A	ENSP00000358207:p.Ala18Ser					VAX1_ENST00000369206.5_Missense_Mutation_p.A18S	p.A18S	NM_199131.2	NP_954582.1	Q5SQQ9	VAX1_HUMAN		all cancers(201;0.0108)	1	296	-			18					B1AVW5|Q6ZSX0	Missense_Mutation	SNP	ENST00000369206.5	37	c.52G>T	CCDS44483.1	.	.	.	.	.	.	.	.	.	.	C	10.13	1.267099	0.23136	.	.	ENSG00000148704	ENST00000277905;ENST00000369206	D;D	0.91686	-2.22;-2.89	4.25	3.08	0.35506	.	0.471174	0.20425	N	0.092594	T	0.81113	0.4755	N	0.14661	0.345	0.32661	N	0.518075	B;B	0.28291	0.043;0.206	B;B	0.31101	0.027;0.124	T	0.75709	-0.3223	10	0.05436	T	0.98	-7.1941	9.7893	0.40695	0.0:0.8104:0.0:0.1896	.	18;18	Q5SQQ9;Q5SQQ9-2	VAX1_HUMAN;.	S	18	ENSP00000277905:A18S;ENSP00000358207:A18S	ENSP00000277905:A18S	A	-	1	0	VAX1	118887506	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	1.406000	0.34646	1.896000	0.54893	0.305000	0.20034	GCT		0.552	VAX1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050559.3	XM_301242		8	88	1	0	0.00307968	1	0.00320045	8	88					A	118897516	C	A	118897516	3	1	83	1	0	0	0	0	1	0	0	0	17131	739	26	5	1104	5	VAX1	10	118897516	Missense_Mutation	SNP	C	TCGA-EJ-7314-01A-31D-2114-08	3092523	118897516	16637231	31	4311											
MS4A14	84689	broad.mit.edu	37	chr11	60164141	60164141	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actgcatttccctacagaccTcatagctctctgctggattt	8	14	6	13	0	2	1	1	0	1	1	4	2	3	2	2	1	4	3	2	1	2	4			TCGA-EJ-7314-01A-31D-2114-08	TCGA-EJ-7314-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5029ad2a-780b-4be9-920c-ee48da8e2f42	4aace255-a8e8-4e86-a431-b957c4f80e8d	g.chr11:60164141T>C	ENST00000300187.6	+	1	367	c.90T>C	c.(88-90)ccT>ccC	p.P30P	MS4A14_ENST00000395001.1_5'UTR|MS4A14_ENST00000531783.1_Silent_p.P30P|MS4A14_ENST00000531787.1_Intron|MS4A14_ENST00000395005.2_Silent_p.P30P	NM_032597.4	NP_115986.3	Q96JA4	M4A14_HUMAN	membrane-spanning 4-domains, subfamily A, member 14	30						integral component of membrane (GO:0016021)				autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(9)|lung(31)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	62						CCTACAGACCTCATAGCTCTC	0.458																																						ENST00000300187.6																			0				autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(9)|lung(31)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	62						c.(88-90)ccT>ccC		membrane-spanning 4-domains, subfamily A, member 14							106	87	94					11																	60164141		2203	4300	6503	SO:0001819	synonymous_variant	84689					integral to membrane	receptor activity	g.chr11:60164141T>C	AY584610	CCDS31569.1, CCDS41652.1, CCDS58136.1, CCDS73295.1	11q12.2	2008-04-10	2008-04-10	2008-04-10		ENSG00000166928			30706	protein-coding gene	gene with protein product			"membrane-spanning 4-domains, subfamily A, member 16"	MS4A16			Standard	NM_032597		Approved	NYD-SP21, FLJ32856, DKFZp434H092	uc031qbd.1	Q96JA4		ENST00000300187.6:c.90T>C	11.37:g.60164141T>C						MS4A14_ENST00000395001.1_5'UTR|MS4A14_ENST00000531787.1_Intron|MS4A14_ENST00000395005.2_Silent_p.P30P|MS4A14_ENST00000531783.1_Silent_p.P30P	p.P30P	NM_032597.4	NP_115986.3	Q96JA4	M4A14_HUMAN			1	367	+			30					E9PJE3|Q2TVT5|Q3B7W3|Q86XH8|Q9NTC2	Silent	SNP	ENST00000300187.6	37	c.90T>C	CCDS31569.1																																																																																				0.458	MS4A14-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000395383.2			3	32	0	0	0	1	0	3	32					C	60164141	T	C	60164141	2	2	83	1	0	0	0	0	0	0	0	1	9858	1538	54	4		4	MS4A14	11	60164141	Silent	SNP	T	TCGA-EJ-7314-01A-31D-2114-08		60164141	74842375	32	4312											
DDN	23109	broad.mit.edu	37	chr12	49391533	49391533	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaaccagatctgttctccttCtttcccttccctcgagccct	6	14	4	17	1	3	1	0	0	3	1	7	2	5	1	5	0	2	1	5	0	1	4			TCGA-EJ-7314-01A-31D-2114-08	TCGA-EJ-7314-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5029ad2a-780b-4be9-920c-ee48da8e2f42	4aace255-a8e8-4e86-a431-b957c4f80e8d	g.chr12:49391533C>T	ENST00000421952.2	-	2	1147	c.1126G>A	c.(1126-1128)Gaa>Aaa	p.E376K	RP11-386G11.5_ENST00000547395.1_RNA|RP11-386G11.3_ENST00000549516.1_RNA|RP11-386G11.5_ENST00000552933.1_RNA|RP11-386G11.5_ENST00000547866.1_RNA|RP11-386G11.5_ENST00000552284.1_RNA	NM_015086.1	NP_055901.2	O94850	DEND_HUMAN	dendrin	376	Interaction with ACTN1.					cell projection (GO:0042995)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|stomach(1)	8						TGTTCTCCTTCTTTCCCTTCC	0.632																																						ENST00000421952.2																			0				NS(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|stomach(1)	8						c.(1126-1128)Gaa>Aaa		dendrin							49	46	47					12																	49391533		2203	4300	6503	SO:0001583	missense	23109					dendritic spine membrane|endoplasmic reticulum membrane|nucleus|perikaryon		g.chr12:49391533C>T	AB018292	CCDS31791.2	12q13	2008-02-05			ENSG00000181418	ENSG00000181418			24458	protein-coding gene	gene with protein product		610588					Standard	NM_015086		Approved	KIAA0749	uc001rsv.1	O94850	OTTHUMG00000156183	ENST00000421952.2:c.1126G>A	12.37:g.49391533C>T	ENSP00000390590:p.Glu376Lys						p.E376K	NM_015086.1	NP_055901.2	O94850	DEND_HUMAN			2	1147	-			376			Interaction with ACTN1.			Missense_Mutation	SNP	ENST00000421952.2	37	c.1126G>A	CCDS31791.2	.	.	.	.	.	.	.	.	.	.	C	13.04	2.117337	0.37339	.	.	ENSG00000181418	ENST00000421952	T	0.47869	0.83	3.48	2.59	0.31030	.	0.000000	0.47093	D	0.000243	T	0.30759	0.0775	L	0.27053	0.805	0.35272	D	0.780551	B	0.12013	0.005	B	0.12156	0.007	T	0.29088	-1.0023	10	0.46703	T	0.11	-11.5308	7.0527	0.25081	0.0:0.875:0.0:0.125	.	376	O94850	DEND_HUMAN	K	376	ENSP00000390590:E376K	ENSP00000390590:E376K	E	-	1	0	DDN	47677800	0.953000	0.32496	0.983000	0.44433	0.903000	0.53119	1.097000	0.30988	1.076000	0.40961	-0.254000	0.11334	GAA		0.632	DDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343335.1			15	43	0	0	0	1	0	15	43					T	49391533	C	T	49391533	3	4	83	1	0	0	0	0	1	0	0	0	4333	922	32	3	1013	3	DDN	12	49391533	Missense_Mutation	SNP	C	TCGA-EJ-7314-01A-31D-2114-08		49391533	84460362	33	4313											
UBR1	197131	broad.mit.edu	37	chr15	43262758	43262758	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttctgcaaagaaagaagatgCggaatgagcctcttcactgt	13	10	10	8	1	3	4	1	1	2	3	3	5	3	5	1	1	3	1	1	1	4	2	rs139296068		TCGA-EJ-7314-01A-31D-2114-08	TCGA-EJ-7314-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5029ad2a-780b-4be9-920c-ee48da8e2f42	4aace255-a8e8-4e86-a431-b957c4f80e8d	g.chr15:43262758C>T	ENST00000290650.4	-	40	4495	c.4417G>A	c.(4417-4419)Gca>Aca	p.A1473T	UBR1_ENST00000382177.2_3'UTR	NM_174916.2	NP_777576.1	Q8IWV7	UBR1_HUMAN	ubiquitin protein ligase E3 component n-recognin 1	1473					cellular response to leucine (GO:0071233)|negative regulation of TOR signaling (GO:0032007)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|proteasome complex (GO:0000502)|ubiquitin ligase complex (GO:0000151)	leucine binding (GO:0070728)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(2)|endometrium(2)|kidney(7)|large_intestine(12)|lung(25)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	58		all_cancers(109;4.32e-15)|all_epithelial(112;4.05e-13)|Lung NSC(122;1.75e-08)|all_lung(180;2e-07)|Melanoma(134;0.0179)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;4.08e-07)|COAD - Colon adenocarcinoma(120;0.185)|Colorectal(105;0.214)		AAAGAAGATGCGGAATGAGCC	0.353																																						ENST00000290650.4																			0				NS(2)|endometrium(2)|kidney(7)|large_intestine(12)|lung(25)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	58						c.(4417-4419)Gca>Aca		ubiquitin protein ligase E3 component n-recognin 1		C	THR/ALA	1,4405	2.1+/-5.4	0,1,2202	127	131	129		4417	5.7	1	15	dbSNP_134	129	0,8598		0,0,4299	no	missense	UBR1	NM_174916.2	58	0,1,6501	TT,TC,CC		0.0,0.0227,0.0077	benign	1473/1750	43262758	1,13003	2203	4299	6502	SO:0001583	missense	197131				cellular response to leucine|negative regulation of TOR signaling cascade	cytosol	leucine binding|zinc ion binding	g.chr15:43262758C>T		CCDS10091.1	15q13	2008-06-23			ENSG00000159459	ENSG00000159459		"Ubiquitin protein ligase E3 component n-recognins"	16808	protein-coding gene	gene with protein product		605981				9653112	Standard	NM_174916		Approved		uc001zqq.3	Q8IWV7	OTTHUMG00000130702	ENST00000290650.4:c.4417G>A	15.37:g.43262758C>T	ENSP00000290650:p.Ala1473Thr					UBR1_ENST00000382177.2_3'UTR	p.A1473T	NM_174916.2	NP_777576.1	Q8IWV7	UBR1_HUMAN		GBM - Glioblastoma multiforme(94;4.08e-07)|COAD - Colon adenocarcinoma(120;0.185)|Colorectal(105;0.214)	40	4495	-		all_cancers(109;4.32e-15)|all_epithelial(112;4.05e-13)|Lung NSC(122;1.75e-08)|all_lung(180;2e-07)|Melanoma(134;0.0179)|Colorectal(260;0.215)	1473					O60708|O75492|Q14D45|Q68DN9|Q8IWY6|Q96JY4	Missense_Mutation	SNP	ENST00000290650.4	37	c.4417G>A	CCDS10091.1	.	.	.	.	.	.	.	.	.	.	C	17.01	3.279350	0.59758	2.27E-4	0.0	ENSG00000159459	ENST00000290650	T	0.50277	0.75	5.72	5.72	0.89469	.	0.175571	0.49916	D	0.000121	T	0.62804	0.2458	L	0.52364	1.645	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.52510	-0.8566	10	0.12766	T	0.61	-17.1576	19.4703	0.94961	0.0:1.0:0.0:0.0	.	1473	Q8IWV7	UBR1_HUMAN	T	1473	ENSP00000290650:A1473T	ENSP00000290650:A1473T	A	-	1	0	UBR1	41050050	1.000000	0.71417	0.998000	0.56505	0.274000	0.26718	5.094000	0.64523	2.711000	0.92665	0.655000	0.94253	GCA		0.353	UBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253202.1	NM_174916		4	93	0	0	0	1	0	4	93					T	43262758	C	T	43262758	3	4	83	1	0	0	0	0	1	0	0	0	16898	768	27	1	864	1	UBR1	15	43262758	Missense_Mutation	SNP	C	TCGA-EJ-7314-01A-31D-2114-08		43262758	59268634	34	4314											
EPB42	2038	broad.mit.edu	37	chr15	43507486	43507486	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tcccccagactggaaattggGaatgtggcttgggtcctgtt	7	12	13	9	0	0	1	0	0	0	1	2	3	2	3	3	4	0	2	3	4	2	3			TCGA-EJ-7314-01A-31D-2114-08	TCGA-EJ-7314-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5029ad2a-780b-4be9-920c-ee48da8e2f42	4aace255-a8e8-4e86-a431-b957c4f80e8d	g.chr15:43507486G>T	ENST00000441366.2	-	3	462	c.237C>A	c.(235-237)ttC>ttA	p.F79L	EPB42_ENST00000300215.3_Missense_Mutation_p.F109L|EPB42_ENST00000540029.1_Intron	NM_000119.2|NM_001114134.1	NP_000110.2|NP_001107606.1	P16452	EPB42_HUMAN	erythrocyte membrane protein band 4.2	79					cell morphogenesis (GO:0000902)|erythrocyte maturation (GO:0043249)|hemoglobin metabolic process (GO:0020027)|iron ion homeostasis (GO:0055072)|peptide cross-linking (GO:0018149)|regulation of cell shape (GO:0008360)|spleen development (GO:0048536)	cortical cytoskeleton (GO:0030863)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)|structural constituent of cytoskeleton (GO:0005200)			endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;8.7e-07)		TGGAAATTGGGAATGTGGCTT	0.542																																						ENST00000300215.3																			0				endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						c.(325-327)ttC>ttA		erythrocyte membrane protein band 4.2							144	117	126					15																	43507486		2203	4299	6502	SO:0001583	missense	2038				erythrocyte maturation|peptide cross-linking|regulation of cell shape	cytoplasm|cytoskeleton|plasma membrane	ATP binding|protein binding|protein-glutamine gamma-glutamyltransferase activity|structural constituent of cytoskeleton	g.chr15:43507486G>T	M60298	CCDS10093.1, CCDS45249.1	15q15-q21	2013-05-02			ENSG00000166947	ENSG00000166947		"Transglutaminases"	3381	protein-coding gene	gene with protein product	"Erythrocyte surface protein band 4.2"	177070				1284644	Standard	NM_000119		Approved	PA, MGC116735, MGC116737	uc001zrb.4	P16452	OTTHUMG00000130701	ENST00000441366.2:c.237C>A	15.37:g.43507486G>T	ENSP00000396616:p.Phe79Leu					EPB42_ENST00000540029.1_Intron|EPB42_ENST00000441366.2_Missense_Mutation_p.F79L	p.F109L			P16452	EPB42_HUMAN		GBM - Glioblastoma multiforme(94;8.7e-07)	3	784	-		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)	79					Q4KKX0|Q4VB97	Missense_Mutation	SNP	ENST00000441366.2	37	c.327C>A	CCDS45249.1	.	.	.	.	.	.	.	.	.	.	G	14.49	2.550027	0.45383	.	.	ENSG00000166947	ENST00000300215;ENST00000441366;ENST00000397027	D;D	0.83591	-1.74;-1.74	5.29	4.38	0.52667	Immunoglobulin E-set (1);Transglutaminase, N-terminal (1);Immunoglobulin-like fold (1);	0.434721	0.28453	N	0.015299	D	0.82751	0.5105	M	0.70787	2.145	0.40427	D	0.979905	B;P	0.43750	0.406;0.816	B;P	0.45998	0.226;0.5	T	0.83039	-0.0158	10	0.51188	T	0.08	-11.8947	7.9116	0.29793	0.1795:0.0:0.8205:0.0	.	109;79	P16452-2;P16452	.;EPB42_HUMAN	L	109;79;79	ENSP00000300215:F109L;ENSP00000396616:F79L	ENSP00000300215:F109L	F	-	3	2	EPB42	41294778	1.000000	0.71417	0.095000	0.20976	0.261000	0.26267	1.027000	0.30115	1.480000	0.48289	0.655000	0.94253	TTC		0.542	EPB42-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432219.1	NM_000119		11	99	1	0	0.00136819	1	0.00145029	11	99					T	43507486	G	T	43507486	3	4	83	1	0	0	0	0	1	0	0	0	5158	1165	41	5	1882	5	EPB42	15	43507486	Missense_Mutation	SNP	G	TCGA-EJ-7314-01A-31D-2114-08	244728	43507486	59023906	35	4315											
UBE2I	7329	broad.mit.edu	37	chr16	1370473	1370473	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acaggaacttctaaatgaacCaaatatccaagacccagctc	17	7	5	12	0	1	2	0	1	1	1	3	3	2	3	3	1	3	1	3	1	7	3			TCGA-EJ-7314-01A-31D-2114-08	TCGA-EJ-7314-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5029ad2a-780b-4be9-920c-ee48da8e2f42	4aace255-a8e8-4e86-a431-b957c4f80e8d	g.chr16:1370473C>T	ENST00000355803.4	+	6	919	c.368C>T	c.(367-369)cCa>cTa	p.P123L	UBE2I_ENST00000406620.1_Missense_Mutation_p.P123L|LA16c-358B7.3_ENST00000567829.1_RNA|UBE2I_ENST00000402301.1_Missense_Mutation_p.P123L|UBE2I_ENST00000397514.3_Missense_Mutation_p.P123L|UBE2I_ENST00000397515.2_Missense_Mutation_p.P123L|UBE2I_ENST00000403747.2_Missense_Mutation_p.P123L|UBE2I_ENST00000566587.1_Missense_Mutation_p.P123L|UBE2I_ENST00000325437.5_Missense_Mutation_p.P123L|LA16c-358B7.3_ENST00000568106.1_RNA	NM_194260.2	NP_919236.1	P63279	UBC9_HUMAN	ubiquitin-conjugating enzyme E2I	123					cellular protein metabolic process (GO:0044267)|cellular protein modification process (GO:0006464)|chromosome segregation (GO:0007059)|mitotic nuclear division (GO:0007067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of intracellular steroid hormone receptor signaling pathway (GO:0033145)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|post-translational protein modification (GO:0043687)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein sumoylation (GO:0016925)|regulation of receptor activity (GO:0010469)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|fibrillar center (GO:0001650)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|synapse (GO:0045202)|synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|poly(A) RNA binding (GO:0044822)|RING-like zinc finger domain binding (GO:0071535)|SUMO ligase activity (GO:0019789)|transcription factor binding (GO:0008134)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|large_intestine(2)|skin(1)|upper_aerodigestive_tract(1)	5		Hepatocellular(780;0.00369)				CTAAATGAACCAAATATCCAA	0.532																																						ENST00000355803.4																			0				breast(1)|large_intestine(2)|skin(1)|upper_aerodigestive_tract(1)	5						c.(367-369)cCa>cTa		ubiquitin-conjugating enzyme E2I							104	100	102					16																	1370473		2199	4300	6499	SO:0001583	missense	7329				cell division|chromosome segregation|interspecies interaction between organisms|mitosis|negative regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|protein sumoylation	cytoplasm|PML body|synaptonemal complex	ATP binding|enzyme binding|ubiquitin-protein ligase activity	g.chr16:1370473C>T	D45050	CCDS10433.1	16p13.3	2011-05-19	2011-05-19		ENSG00000103275	ENSG00000103275	6.3.2.19	"Ubiquitin-conjugating enzymes E2"	12485	protein-coding gene	gene with protein product		601661	"ubiquitin-conjugating enzyme E2I (homologous to yeast UBC9)", "ubiquitin-conjugating enzyme E2I (UBC9 homolog, yeast)"			8565643	Standard	NM_003345		Approved	UBC9	uc002cld.2	P63279	OTTHUMG00000047845	ENST00000355803.4:c.368C>T	16.37:g.1370473C>T	ENSP00000348056:p.Pro123Leu					UBE2I_ENST00000406620.1_Missense_Mutation_p.P123L|UBE2I_ENST00000397515.2_Missense_Mutation_p.P123L|UBE2I_ENST00000403747.2_Missense_Mutation_p.P123L|LA16c-358B7.3_ENST00000568106.1_RNA|LA16c-358B7.3_ENST00000567829.1_RNA|UBE2I_ENST00000397514.3_Missense_Mutation_p.P123L|UBE2I_ENST00000566587.1_Missense_Mutation_p.P123L|UBE2I_ENST00000402301.1_Missense_Mutation_p.P123L|UBE2I_ENST00000325437.5_Missense_Mutation_p.P123L	p.P123L	NM_194260.2	NP_919236.1	P63279	UBC9_HUMAN			6	919	+		Hepatocellular(780;0.00369)	123					D3DU69|P50550|Q15698|Q59GX1|Q86VB3	Missense_Mutation	SNP	ENST00000355803.4	37	c.368C>T	CCDS10433.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.294575	0.81025	.	.	ENSG00000103275	ENST00000325437;ENST00000355803;ENST00000397514;ENST00000397515;ENST00000406620;ENST00000403747;ENST00000402301	T;T;T;T;T;T;T	0.54866	0.55;0.55;0.55;0.55;0.55;0.55;0.55	5.13	4.18	0.49190	Ubiquitin-conjugating enzyme, E2 (2);Ubiquitin-conjugating enzyme/RWD-like (2);	0.000000	0.85682	D	0.000000	T	0.80093	0.4560	H	0.97023	3.925	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.85305	0.1075	10	0.87932	D	0	.	11.3829	0.49768	0.0:0.9123:0.0:0.0877	.	123;123	B0QYN7;P63279	.;UBC9_HUMAN	L	123	ENSP00000324897:P123L;ENSP00000348056:P123L;ENSP00000380649:P123L;ENSP00000380650:P123L;ENSP00000384568:P123L;ENSP00000385009:P123L;ENSP00000384361:P123L	ENSP00000324897:P123L	P	+	2	0	UBE2I	1310474	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.606000	0.82863	1.409000	0.46915	0.561000	0.74099	CCA		0.532	UBE2I-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250317.2	NM_003345		6	93	0	0	0	1	0	6	93					T	1370473	C	T	1370473	3	4	83	1	0	0	0	0	1	0	0	0	16856	594	21	3	386	3	UBE2I	16	1370473	Missense_Mutation	SNP	C	TCGA-EJ-7314-01A-31D-2114-08		1370473	88984280	36	4316											
PLEKHH3	79990	broad.mit.edu	37	chr17	40821536	40821536	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggcaggcggccacatggccaTagctgacactgtggatgggc	8	6	16	11	1	0	1	0	1	0	0	0	2	0	2	2	6	1	2	2	6	1	1			TCGA-EJ-7314-01A-31D-2114-08	TCGA-EJ-7314-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5029ad2a-780b-4be9-920c-ee48da8e2f42	4aace255-a8e8-4e86-a431-b957c4f80e8d	g.chr17:40821536T>A	ENST00000591022.1	-	12	2504	c.2117A>T	c.(2116-2118)tAt>tTt	p.Y706F	PLEKHH3_ENST00000412503.1_Missense_Mutation_p.Y529F|PLEKHH3_ENST00000293349.6_Missense_Mutation_p.Y703F|PLEKHH3_ENST00000456950.2_5'UTR	NM_024927.4	NP_079203	Q7Z736	PKHH3_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 3	706	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				signal transduction (GO:0007165)	cytoskeleton (GO:0005856)|extracellular space (GO:0005615)				endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(2)|skin(2)	13		Breast(137;0.00116)		BRCA - Breast invasive adenocarcinoma(366;0.14)		CACATGGCCATAGCTGACACT	0.667																																						ENST00000293349.6																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(2)|skin(2)	13						c.(2107-2109)tAt>tTt		pleckstrin homology domain containing, family H (with MyTH4 domain) member 3							29	31	30					17																	40821536		2203	4299	6502	SO:0001583	missense	79990				signal transduction	cytoskeleton		g.chr17:40821536T>A	BC052978	CCDS11434.1	17q21.2	2013-01-11				ENSG00000068137		"Pleckstrin homology (PH) domain containing"	26105	protein-coding gene	gene with protein product						12477932	Standard	NM_024927		Approved	FLJ21019	uc002iau.3	Q7Z736		ENST00000591022.1:c.2117A>T	17.37:g.40821536T>A	ENSP00000468678:p.Tyr706Phe					PLEKHH3_ENST00000412503.1_Missense_Mutation_p.Y529F|PLEKHH3_ENST00000456950.2_5'UTR|PLEKHH3_ENST00000591022.1_Missense_Mutation_p.Y706F	p.Y703F			Q7Z736	PKHH3_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.14)	12	2538	-		Breast(137;0.00116)	706			FERM.		C9JQ76|Q59H20|Q96B28|Q9H7D6|Q9NT18	Missense_Mutation	SNP	ENST00000591022.1	37	c.2108A>T	CCDS11434.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	24.8|24.8	4.573084|4.573084	0.86542|0.86542	.|.	.|.	ENSG00000068137|ENSG00000068137	ENST00000456950|ENST00000293349;ENST00000412503	.|D	.|0.91792	.|-2.91	4.43|4.43	4.43|4.43	0.53597|0.53597	.|FERM domain (1);	.|0.000000	.|0.38058	.|N	.|0.001834	D|D	0.94427|0.94427	0.8207|0.8207	M|M	0.62723|0.62723	1.935|1.935	0.30999|0.30999	N|N	0.720491|0.720491	.|D	.|0.67145	.|0.996	.|D	.|0.70227	.|0.968	D|D	0.92608|0.92608	0.6097|0.6097	6|10	0.02654|0.40728	T|T	1|0.16	-4.7659|-4.7659	13.3337|13.3337	0.60505|0.60505	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|706	.|Q7Z736	.|PKHH3_HUMAN	L|F	357|706;529	.|ENSP00000411885:Y529F	ENSP00000394251:M357L|ENSP00000293349:Y706F	M|Y	-|-	1|2	0|0	PLEKHH3|PLEKHH3	38075062|38075062	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	3.171000|3.171000	0.50824|0.50824	1.996000|1.996000	0.58369|0.58369	0.533000|0.533000	0.62120|0.62120	ATG|TAT		0.667	PLEKHH3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000452332.1	NM_024927		4	38	0	0	0	1	0	4	38					A	40821536	T	A	40821536	3	1	83	1	0	0	0	0	1	0	0	0	12078	1406	49	5	272	5	PLEKHH3	17	40821536	Missense_Mutation	SNP	T	TCGA-EJ-7314-01A-31D-2114-08		40821536	40373674	37	4317											
C17orf95	124512	broad.mit.edu	37	chr17	74729679	74729679	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttcctcttgagtcttttgatGcagacaaagaagatatagca	13	13	8	7	0	2	5	0	2	2	3	3	5	3	5	1	0	2	2	1	0	4	6			TCGA-EJ-7314-01A-31D-2114-08	TCGA-EJ-7314-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5029ad2a-780b-4be9-920c-ee48da8e2f42	4aace255-a8e8-4e86-a431-b957c4f80e8d	g.chr17:74729679G>A	ENST00000341249.6	+	5	816	c.484G>A	c.(484-486)Gca>Aca	p.A162T	METTL23_ENST00000591571.1_3'UTR|METTL23_ENST00000586752.1_Missense_Mutation_p.A95T|METTL23_ENST00000586200.1_Missense_Mutation_p.A43T|MFSD11_ENST00000588460.1_5'Flank|METTL23_ENST00000588822.1_Missense_Mutation_p.A95T|MIR636_ENST00000384825.1_RNA|MFSD11_ENST00000586622.1_5'Flank|METTL23_ENST00000590964.1_Missense_Mutation_p.A95T|METTL23_ENST00000588302.1_3'UTR|METTL23_ENST00000586738.1_3'UTR|RP11-318A15.7_ENST00000587459.1_Intron|METTL23_ENST00000588783.1_3'UTR	NM_001206984.1	NP_001193913.1	Q86XA0	MET23_HUMAN	methyltransferase like 23	162						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	methyltransferase activity (GO:0008168)			large_intestine(2)|lung(1)	3						GTCTTTTGATGCAGACAAAGA	0.373																																						ENST00000341249.6																			0				large_intestine(2)|lung(1)	3						c.(484-486)Gca>Aca		methyltransferase like 23							178	178	178					17																	74729679		1882	4104	5986	SO:0001583	missense	124512					integral to membrane	methyltransferase activity	g.chr17:74729679G>A		CCDS45787.1, CCDS59298.1	17q25.2	2011-03-03	2011-03-03	2011-03-03	ENSG00000181038	ENSG00000181038			26988	protein-coding gene	gene with protein product		615262	"chromosome 17 open reading frame 95"	C17orf95		12477932	Standard	NM_001080510		Approved	LOC124512	uc021udl.1	Q86XA0		ENST00000341249.6:c.484G>A	17.37:g.74729679G>A	ENSP00000341543:p.Ala162Thr					METTL23_ENST00000588302.1_3'UTR|RP11-318A15.7_ENST00000587459.1_Intron|METTL23_ENST00000586752.1_Missense_Mutation_p.A95T|METTL23_ENST00000586738.1_3'UTR|METTL23_ENST00000588783.1_3'UTR|METTL23_ENST00000588822.1_Missense_Mutation_p.A95T|METTL23_ENST00000586200.1_Missense_Mutation_p.A43T|METTL23_ENST00000591571.1_3'UTR|METTL23_ENST00000590964.1_Missense_Mutation_p.A95T	p.A162T	NM_001206984.1	NP_001193913.1	Q86XA0	MET23_HUMAN			5	816	+			162					H9ZYJ0|K7EK32	Missense_Mutation	SNP	ENST00000341249.6	37	c.484G>A	CCDS45787.1	.	.	.	.	.	.	.	.	.	.	G	33	5.204291	0.95033	.	.	ENSG00000181038	ENST00000317409;ENST00000341249	T	0.23147	1.92	5.93	5.93	0.95920	.	0.105676	0.64402	D	0.000005	T	0.48205	0.1487	L	0.49126	1.545	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.09509	-1.0671	10	0.35671	T	0.21	-19.3633	20.3539	0.98825	0.0:0.0:1.0:0.0	.	162	Q86XA0	MET23_HUMAN	T	241;162	ENSP00000341543:A162T	ENSP00000316862:A241T	A	+	1	0	METTL23	72241274	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.294000	0.96088	2.826000	0.97356	0.655000	0.94253	GCA		0.373	METTL23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451002.1	NM_001080510		54	119	0	0	0	1	0	54	119					A	74729679	G	A	74729679	3	1	83	1	0	0	0	0	1	0	0	0	1892	1319	46	3	498	3	C17orf95	17	74729679	Missense_Mutation	SNP	G	TCGA-EJ-7314-01A-31D-2114-08	33908143	74729679	6465531	38	4318											
ZNRF4	148066	broad.mit.edu	37	chr19	5455562	5455562	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcagggtcccagtggccgcGtcactgcctctgagccacgc	6	6	13	16	3	2	1	1	1	1	0	3	1	3	1	4	2	3	1	4	2	0	0	rs147873454	byFrequency	TCGA-EJ-7314-01A-31D-2114-08	TCGA-EJ-7314-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5029ad2a-780b-4be9-920c-ee48da8e2f42	4aace255-a8e8-4e86-a431-b957c4f80e8d	g.chr19:5455562G>A	ENST00000222033.4	+	1	137	c.60G>A	c.(58-60)gcG>gcA	p.A20A		NM_181710.3	NP_859061.3	Q8WWF5	ZNRF4_HUMAN	zinc and ring finger 4	20						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			NS(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16				UCEC - Uterine corpus endometrioid carcinoma (162;0.0002)		CAGTGGCCGCGTCACTGCCTC	0.662																																						ENST00000222033.4																			0				NS(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16						c.(58-60)gcG>gcA		zinc and ring finger 4							41	48	45					19																	5455562		2124	4235	6359	SO:0001819	synonymous_variant	148066					integral to membrane	zinc ion binding	g.chr19:5455562G>A	AK098722	CCDS42475.1	19p13.3	2013-01-09				ENSG00000105428		"RING-type (C3HC4) zinc fingers"	17726	protein-coding gene	gene with protein product		612063					Standard	NM_181710		Approved	spzn, Ssrzf1, RNF204	uc002mca.4	Q8WWF5		ENST00000222033.4:c.60G>A	19.37:g.5455562G>A							p.A20A	NM_181710.3	NP_859061.3	Q8WWF5	ZNRF4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;0.0002)	1	137	+			20					A8K886|O75866	Silent	SNP	ENST00000222033.4	37	c.60G>A	CCDS42475.1																																																																																				0.662	ZNRF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450924.1	NM_181710		6	61	0	0	0	1	0	6	61					A	5455562	G	A	5455562	2	1	83	1	0	0	0	0	0	0	0	1	18211	1132	40	1		1	ZNRF4	19	5455562	Silent	SNP	G	TCGA-EJ-7314-01A-31D-2114-08		5455562	53673421	39	4319											
ZNF324	25799	broad.mit.edu	37	chr19	58982449	58982449	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gacgcctgagcggcagaaacCatgtgcacaggaggtccctg	10	5	14	12	2	0	2	0	1	0	1	1	4	1	3	3	3	3	2	3	3	1	0			TCGA-EJ-7314-01A-31D-2114-08	TCGA-EJ-7314-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5029ad2a-780b-4be9-920c-ee48da8e2f42	4aace255-a8e8-4e86-a431-b957c4f80e8d	g.chr19:58982449C>T	ENST00000536459.2	+	4	1299	c.590C>T	c.(589-591)cCa>cTa	p.P197L	ZNF446_ENST00000596341.1_5'Flank|ZNF324_ENST00000196482.3_Missense_Mutation_p.P197L|ZNF324_ENST00000535298.1_5'UTR			O75467	Z324A_HUMAN	zinc finger protein 324	197					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(2)|prostate(2)|urinary_tract(2)	16		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179)		CGGCAGAAACCATGTGCACAG	0.647																																						ENST00000536459.2																			0				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(2)|prostate(2)|urinary_tract(2)	16						c.(589-591)cCa>cTa		zinc finger protein 324							36	43	40					19																	58982449		2203	4300	6503	SO:0001583	missense	25799				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58982449C>T	AF060503	CCDS12981.1	19q13.43	2013-01-08				ENSG00000083812		"Zinc fingers, C2H2-type", "-"	14096	protein-coding gene	gene with protein product							Standard	NM_014347		Approved	ZF5128, ZNF324A	uc002qsw.2	O75467		ENST00000536459.2:c.590C>T	19.37:g.58982449C>T	ENSP00000444812:p.Pro197Leu					ZNF324_ENST00000196482.3_Missense_Mutation_p.P197L|ZNF324_ENST00000535298.1_5'UTR	p.P197L			O75467	Z324A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179)	4	1299	+		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)	197					B3KRX1	Missense_Mutation	SNP	ENST00000536459.2	37	c.590C>T	CCDS12981.1	.	.	.	.	.	.	.	.	.	.	C	12.67	2.006909	0.35415	.	.	ENSG00000083812	ENST00000378044;ENST00000196482;ENST00000536459;ENST00000539101	T;T	0.06218	3.33;3.33	3.4	-1.46	0.08800	.	1.075970	0.07388	N	0.888548	T	0.04407	0.0121	L	0.34521	1.04	0.18873	N	0.999984	P	0.43094	0.799	B	0.35859	0.212	T	0.40270	-0.9572	10	0.39692	T	0.17	.	4.9405	0.13963	0.0:0.5455:0.1583:0.2962	.	197	O75467	Z324A_HUMAN	L	197;197;197;187	ENSP00000196482:P197L;ENSP00000444812:P197L	ENSP00000196482:P197L	P	+	2	0	ZNF324	63674261	0.000000	0.05858	0.000000	0.03702	0.037000	0.13140	0.802000	0.27069	-0.147000	0.11254	0.455000	0.32223	CCA		0.647	ZNF324-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467044.1	NM_014347		3	48	0	0	0	1	0	3	48					T	58982449	C	T	58982449	3	4	83	1	0	0	0	0	1	0	0	0	17841	594	21	3	600	3	ZNF324	19	58982449	Missense_Mutation	SNP	C	TCGA-EJ-7314-01A-31D-2114-08	53526887	58982449	146534	40	4320											
JPH2	57158	broad.mit.edu	37	chr20	42747223	42747223	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctggttggcagccagggcggCctgttccgctgcctcagctt	3	10	14	14	2	1	0	1	0	0	0	2	0	2	0	4	4	3	5	4	4	0	3			TCGA-EJ-7314-01A-31D-2114-08	TCGA-EJ-7314-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5029ad2a-780b-4be9-920c-ee48da8e2f42	4aace255-a8e8-4e86-a431-b957c4f80e8d	g.chr20:42747223C>A	ENST00000372980.3	-	3	2082	c.1210G>T	c.(1210-1212)Gcc>Tcc	p.A404S		NM_020433.4	NP_065166.2	Q9BR39	JPH2_HUMAN	junctophilin 2	404	Ala-rich.				calcium ion homeostasis (GO:0055074)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport into cytosol (GO:0060402)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|regulation of cardiac muscle tissue development (GO:0055024)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|Z disc (GO:0030018)	calcium-release channel activity (GO:0015278)|phosphatidic acid binding (GO:0070300)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylinositol-4-phosphate binding (GO:0070273)|phosphatidylinositol-5-phosphate binding (GO:0010314)|phosphatidylserine binding (GO:0001786)			NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(19)|prostate(1)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			GCCAGGGCGGCCTGTTCCGCT	0.607																																						ENST00000372980.3																			0				NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(19)|prostate(1)|upper_aerodigestive_tract(1)	32						c.(1210-1212)Gcc>Tcc		junctophilin 2							97	98	98					20																	42747223		2203	4300	6503	SO:0001583	missense	57158				calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane|plasma membrane		g.chr20:42747223C>A	AL034419	CCDS13325.1, CCDS13326.1	20q12-q13.11	2014-09-17			ENSG00000149596	ENSG00000149596			14202	protein-coding gene	gene with protein product		605267				10891348, 10949023	Standard	XM_006723832		Approved	JP-2	uc002xli.1	Q9BR39	OTTHUMG00000033037	ENST00000372980.3:c.1210G>T	20.37:g.42747223C>A	ENSP00000362071:p.Ala404Ser						p.A404S	NM_020433.4	NP_065166.2	Q9BR39	JPH2_HUMAN	COAD - Colon adenocarcinoma(18;0.00189)		3	2082	-		Myeloproliferative disorder(115;0.0122)	404			Ala-rich.		E1P5X1|O95913|Q5JY74|Q9UJN4	Missense_Mutation	SNP	ENST00000372980.3	37	c.1210G>T	CCDS13325.1	.	.	.	.	.	.	.	.	.	.	C	28.2	4.895190	0.91962	.	.	ENSG00000149596	ENST00000372980	T	0.69040	-0.37	4.78	4.78	0.61160	.	0.000000	0.85682	D	0.000000	T	0.78194	0.4245	M	0.74467	2.265	0.80722	D	1	D	0.62365	0.991	P	0.57204	0.815	T	0.81602	-0.0858	10	0.62326	D	0.03	.	16.6039	0.84823	0.0:1.0:0.0:0.0	.	404	Q9BR39	JPH2_HUMAN	S	404	ENSP00000362071:A404S	ENSP00000362071:A404S	A	-	1	0	JPH2	42180637	1.000000	0.71417	1.000000	0.80357	0.834000	0.47266	6.974000	0.76122	2.198000	0.70561	0.561000	0.74099	GCC		0.607	JPH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080307.1			9	169	1	0	6.40141e-05	1	7.21861e-05	9	169					A	42747223	C	A	42747223	3	1	83	1	0	0	0	0	1	0	0	0	7961	739	26	5	892	5	JPH2	20	42747223	Missense_Mutation	SNP	C	TCGA-EJ-7314-01A-31D-2114-08		42747223	20278297	41	4321											
MCM3AP	8888	broad.mit.edu	37	chr21	47692564	47692565	+	Frame_Shift_Del	DEL	GT	GT	-																															aagacacccttgtttctcagGtcctggtacatctccttcag																										TCGA-EJ-7314-01A-31D-2114-08	TCGA-EJ-7314-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5029ad2a-780b-4be9-920c-ee48da8e2f42	4aace255-a8e8-4e86-a431-b957c4f80e8d	g.chr21:47692564_47692565delGT	ENST00000397708.1	-	9	2629_2630	c.2375_2376delAC	c.(2374-2376)gacfs	p.D792fs	MCM3AP_ENST00000291688.1_Frame_Shift_Del_p.D792fs			O60318	GANP_HUMAN	minichromosome maintenance complex component 3 associated protein	792	SAC3 homology.				DNA replication (GO:0006260)|immune system process (GO:0002376)|mRNA transport (GO:0051028)|protein import into nucleus (GO:0006606)	cytosol (GO:0005829)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	DNA binding (GO:0003677)|transferase activity, transferring acyl groups (GO:0016746)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	72	Breast(49;0.112)					TGTTTCTCAGGTCCTGGTACAT	0.5																																						ENST00000397708.1																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	72						c.(2374-2376)gfs		minichromosome maintenance complex component 3 associated protein																																				SO:0001589	frameshift_variant	8888				DNA replication|protein import into nucleus	cytosol|nucleus	DNA binding|nucleotide binding	g.chr21:47692564_47692565delGT	AB005543	CCDS13734.1	21q22.3	2012-12-19	2007-04-04		ENSG00000160294	ENSG00000160294			6946	protein-coding gene	gene with protein product	"germinal-centre associated nuclear protein"	603294	"minichromosome maintenance deficient (S. cerevisiae) 3-associated protein", "MCM3 minichromosome maintenance deficient 3 (S. cerevisiae) associated protein"			9712829, 16914116, 21195085	Standard	XM_005261205		Approved	Map80, KIAA0572, GANP, SAC3	uc002zir.1	O60318	OTTHUMG00000090630	ENST00000397708.1:c.2375_2376delAC	21.37:g.47692564_47692565delGT	ENSP00000380820:p.Asp792fs					MCM3AP_ENST00000291688.1_Frame_Shift_Del_p.D792fs	p.D792fs			O60318	MCM3A_HUMAN			9	2629_2630	-	Breast(49;0.112)		792					C9JL56|Q2M3C1|Q6PJP6|Q9BSY5|Q9UMT4	Frame_Shift_Del	DEL	ENST00000397708.1	37	c.2375_2376delAC	CCDS13734.1																																																																																				0.5	MCM3AP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207254.1	NM_003906		45	102						45	102	---	---	---	---	-	47692565	GT	-	47692564	7	5	83	1	0	1	0	1	0	0	0	0	9388	1252	44	0	3650	0	MCM3AP	21	47692564	Frame_Shift_Del	DEL	GT	TCGA-EJ-7314-01A-31D-2114-08		47692564	437331	42	4322											
SERPIND1	3053	broad.mit.edu	37	chr22	21133990	21133990	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cagcgtcttaacatcctcaaCgccaagttcgctttcaacct	10	11	5	15	3	3	0	2	0	1	0	5	0	4	0	3	0	4	2	3	0	4	3	rs144089172		TCGA-EJ-7314-01A-31D-2114-08	TCGA-EJ-7314-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5029ad2a-780b-4be9-920c-ee48da8e2f42	4aace255-a8e8-4e86-a431-b957c4f80e8d	g.chr22:21133990C>A	ENST00000215727.5	+	2	673	c.390C>A	c.(388-390)aaC>aaA	p.N130K	PI4KA_ENST00000572273.1_Intron|SERPIND1_ENST00000406799.1_Missense_Mutation_p.N130K|PI4KA_ENST00000466162.1_Intron|PI4KA_ENST00000255882.6_Intron	NM_000185.3	NP_000176.2	P05546	HEP2_HUMAN	serpin peptidase inhibitor, clade D (heparin cofactor), member 1	130					blood coagulation (GO:0007596)|chemotaxis (GO:0006935)|negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	endopeptidase inhibitor activity (GO:0004866)|heparin binding (GO:0008201)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	all_cancers(11;6.16e-25)|all_epithelial(7;1.02e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)		Ardeparin(DB00407)|Sulodexide(DB06271)	ACATCCTCAACGCCAAGTTCG	0.498																																						ENST00000215727.5																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						c.(388-390)aaC>aaA		serpin peptidase inhibitor, clade D (heparin cofactor), member 1	Ardeparin(DB00407)						91	77	82					22																	21133990		2203	4300	6503	SO:0001583	missense	3053				blood coagulation|chemotaxis|regulation of proteolysis	extracellular region	heparin binding|serine-type endopeptidase inhibitor activity	g.chr22:21133990C>A	M12849	CCDS13783.1	22q11.21	2014-02-18	2005-08-18		ENSG00000099937	ENSG00000099937		"Serine (or cysteine) peptidase inhibitors"	4838	protein-coding gene	gene with protein product	"heparin cofactor II"	142360	"serine (or cysteine) proteinase inhibitor, clade D (heparin cofactor), member 1"	HCF2		1671335, 24172014	Standard	XM_005261597		Approved	HC-II, HLS2, HC2, D22S673	uc002ztb.1	P05546	OTTHUMG00000150755	ENST00000215727.5:c.390C>A	22.37:g.21133990C>A	ENSP00000215727:p.Asn130Lys					PI4KA_ENST00000572273.1_Intron|PI4KA_ENST00000466162.1_Intron|PI4KA_ENST00000255882.6_Intron|SERPIND1_ENST00000406799.1_Missense_Mutation_p.N130K	p.N130K	NM_000185.3	NP_000176.2	P05546	HEP2_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)		2	673	+	all_cancers(11;6.16e-25)|all_epithelial(7;1.02e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	130					B2RAI1|D3DX34|Q6IBZ5	Missense_Mutation	SNP	ENST00000215727.5	37	c.390C>A	CCDS13783.1	.	.	.	.	.	.	.	.	.	.	C	17.43	3.387082	0.61956	.	.	ENSG00000099937	ENST00000215727;ENST00000406799	D;D	0.88896	-2.44;-2.44	5.6	-9.55	0.00569	Serpin domain (2);	0.000000	0.85682	D	0.000000	D	0.94578	0.8253	M	0.93375	3.41	0.44129	D	0.996911	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.95327	0.8426	10	0.72032	D	0.01	.	19.8105	0.96544	0.0:0.617:0.0:0.383	.	130;130	Q8IVC0;P05546	.;HEP2_HUMAN	K	130	ENSP00000215727:N130K;ENSP00000384050:N130K	ENSP00000215727:N130K	N	+	3	2	SERPIND1	19463990	0.001000	0.12720	0.196000	0.23383	0.894000	0.52154	-1.642000	0.02006	-2.101000	0.00846	-1.642000	0.00770	AAC		0.498	SERPIND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319961.1	NM_000185		14	58	1	0	0.000308642	1	0.000333837	14	58					A	21133990	C	A	21133990	3	1	83	1	0	0	0	0	1	0	0	0	14110	535	19	5	392	5	SERPIND1	22	21133990	Missense_Mutation	SNP	C	TCGA-EJ-7314-01A-31D-2114-08		21133990	30170576	43	4323											
MSN	4478	broad.mit.edu	37	chrX	64949442	64949442	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agtgaaagagggcattctcaAtgatgatatttactgcccgc	12	11	10	8	1	1	4	1	3	1	1	2	4	1	4	1	1	2	1	1	1	4	4			TCGA-EJ-7314-01A-31D-2114-08	TCGA-EJ-7314-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5029ad2a-780b-4be9-920c-ee48da8e2f42	4aace255-a8e8-4e86-a431-b957c4f80e8d	g.chrX:64949442A>C	ENST00000360270.5	+	4	507	c.335A>C	c.(334-336)aAt>aCt	p.N112T		NM_002444.2	NP_002435.1	P26038	MOES_HUMAN	moesin	112	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				cellular component movement (GO:0006928)|establishment of endothelial barrier (GO:0061028)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|membrane to membrane docking (GO:0022614)|positive regulation of gene expression (GO:0010628)|regulation of lymphocyte migration (GO:2000401)	apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|microvillus (GO:0005902)|plasma membrane (GO:0005886)|uropod (GO:0001931)|vesicle (GO:0031982)	cell adhesion molecule binding (GO:0050839)|double-stranded RNA binding (GO:0003725)|protein kinase binding (GO:0019901)|receptor binding (GO:0005102)|structural constituent of cytoskeleton (GO:0005200)		MSN/ALK(6)	breast(4)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(6)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	43						GGCATTCTCAATGATGATATT	0.498			T	ALK	ALCL																																	ENST00000360270.5				Dom	yes		X	Xq11.2-q12	4478	T	moesin			L	ALK		ALCL	MSN/ALK(6)	0				breast(4)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(6)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	43						c.(334-336)aAt>aCt		moesin							110	83	92					X																	64949442		2203	4300	6503	SO:0001583	missense	4478				leukocyte cell-cell adhesion|leukocyte migration|membrane to membrane docking	apical plasma membrane|cytoskeleton|extrinsic to membrane|microvillus membrane|nucleolus	cell adhesion molecule binding|receptor binding|structural constituent of cytoskeleton	g.chrX:64949442A>C	M69066	CCDS14382.1	Xq11.1	2010-10-20			ENSG00000147065	ENSG00000147065			7373	protein-coding gene	gene with protein product		309845				1924289, 7628534	Standard	XM_005262269		Approved		uc004dwf.3	P26038	OTTHUMG00000021723	ENST00000360270.5:c.335A>C	X.37:g.64949442A>C	ENSP00000353408:p.Asn112Thr						p.N112T	NM_002444.2	NP_002435.1	P26038	MOES_HUMAN			4	507	+			112			FERM.			Missense_Mutation	SNP	ENST00000360270.5	37	c.335A>C	CCDS14382.1	.	.	.	.	.	.	.	.	.	.	A	13.67	2.306036	0.40795	.	.	ENSG00000147065	ENST00000360270	T	0.78246	-1.16	5.99	3.63	0.41609	Band 4.1 domain (1);FERM central domain (2);FERM domain (1);FERM/acyl-CoA-binding protein, 3-helical bundle (1);	0.125030	0.64402	D	0.000001	T	0.54615	0.1869	N	0.05608	-0.01	0.54753	D	0.999987	B	0.09022	0.002	B	0.12156	0.007	T	0.40515	-0.9559	10	0.18276	T	0.48	.	8.3864	0.32503	0.8385:0.0:0.1615:0.0	.	112	P26038	MOES_HUMAN	T	112	ENSP00000353408:N112T	ENSP00000353408:N112T	N	+	2	0	MSN	64866167	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.027000	0.49697	0.867000	0.35654	0.486000	0.48141	AAT		0.498	MSN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056981.1	NM_002444		17	14	0	0	0	1	0	17	14					C	64949442	A	C	64949442	3	2	83	1	0	0	0	0	1	0	0	0	9885	101	4	5	349	5	MSN	23	64949442	Missense_Mutation	SNP	A	TCGA-EJ-7314-01A-31D-2114-08		64949442	90321118	44	4324											
NRK	203447	broad.mit.edu	37	chrX	105153579	105153579	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	actatcaagagacttgcttcGggcaccaaactcaaataact	15	9	6	11	1	2	1	2	0	0	1	3	2	2	1	1	1	3	2	1	1	5	4	rs376634125		TCGA-EJ-7314-01A-31D-2114-08	TCGA-EJ-7314-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5029ad2a-780b-4be9-920c-ee48da8e2f42	4aace255-a8e8-4e86-a431-b957c4f80e8d	g.chrX:105153579G>A	ENST00000243300.9	+	13	2249	c.1946G>A	c.(1945-1947)cGg>cAg	p.R649Q	NRK_ENST00000428173.2_Missense_Mutation_p.R650Q	NM_198465.2	NP_940867.2	Q7Z2Y5	NRK_HUMAN	Nik related kinase	649					activation of JNKK activity (GO:0007256)|negative regulation of cell proliferation (GO:0008285)|parturition (GO:0007567)|regulation of spongiotrophoblast cell proliferation (GO:0060721)		ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2)	76						GACTTGCTTCGGGCACCAAAC	0.483										HNSCC(51;0.14)																												ENST00000428173.2																			0				breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2)	76						c.(1948-1950)cGg>cAg		Nik related kinase		G	GLN/ARG	0,3217		0,0,1323,571	44	40	41		1946	1.6	1	X		41	1,6424		0,1,2318,1787	no	missense	NRK	NM_198465.2	43	0,1,3641,2358	AA,AG,GG,G		0.0156,0.0,0.0104	possibly-damaging	649/1583	105153579	1,9641	1894	4106	6000	SO:0001583	missense	203447						ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chrX:105153579G>A	BX538345	CCDS65305.1	Xq22.3	2008-02-05			ENSG00000123572	ENSG00000123572			25391	protein-coding gene	gene with protein product		300791					Standard	NM_198465		Approved	DKFZp686A17109	uc004emd.3	Q7Z2Y5	OTTHUMG00000022143	ENST00000243300.9:c.1946G>A	X.37:g.105153579G>A	ENSP00000434830:p.Arg649Gln	HNSCC(51;0.14)				NRK_ENST00000243300.9_Missense_Mutation_p.R649Q	p.R650Q			Q7Z2Y5	NRK_HUMAN			13	2252	+			649					Q32ND6|Q5H9K2|Q6ZMP2	Missense_Mutation	SNP	ENST00000243300.9	37	c.1949G>A		.	.	.	.	.	.	.	.	.	.	G	5.966	0.362119	0.11296	0.0	1.56E-4	ENSG00000123572	ENST00000243300;ENST00000428173	T;T	0.79247	-1.24;-1.25	4.28	1.56	0.23342	.	0.385062	0.19101	N	0.122695	T	0.61615	0.2361	L	0.32530	0.975	0.80722	D	1	B;B	0.30021	0.265;0.105	B;B	0.23852	0.049;0.006	T	0.52631	-0.8550	10	0.45353	T	0.12	.	6.1953	0.20546	0.4497:0.0:0.5503:0.0	.	317;649	Q7Z2Y5-2;Q7Z2Y5	.;NRK_HUMAN	Q	649;650	ENSP00000434830:R649Q;ENSP00000438378:R650Q	ENSP00000434830:R649Q	R	+	2	0	NRK	105040235	0.998000	0.40836	0.991000	0.47740	0.025000	0.11179	0.612000	0.24283	0.197000	0.20387	-0.208000	0.12717	CGG		0.483	NRK-001	KNOWN	non_canonical_conserved|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000106480.6	NM_198465		4	9	0	0	0	1	0	4	9					A	105153579	G	A	105153579	3	1	83	1	0	0	0	0	1	0	0	0	10655	1116	39	2	1996	2	NRK	23	105153579	Missense_Mutation	SNP	G	TCGA-EJ-7314-01A-31D-2114-08	40204137	105153579	50116981	45	4325											
ODZ1	10178	broad.mit.edu	37	chrX	123839059	123839059	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tagttctgactggctgcactGaagatcgcagaggaaccaga	12	8	12	9	1	1	5	0	2	1	3	2	6	1	6	1	2	2	4	1	2	3	2			TCGA-EJ-7314-01A-31D-2114-08	TCGA-EJ-7314-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5029ad2a-780b-4be9-920c-ee48da8e2f42	4aace255-a8e8-4e86-a431-b957c4f80e8d	g.chrX:123839059G>A	ENST00000371130.3	-	5	882	c.819C>T	c.(817-819)ttC>ttT	p.F273F	TENM1_ENST00000422452.2_Silent_p.F273F	NM_014253.3	NP_055068.2	Q9UKZ4	TEN1_HUMAN	teneurin transmembrane protein 1	273	Teneurin N-terminal. {ECO:0000255|PROSITE-ProRule:PRU00694}.				immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neuropeptide signaling pathway (GO:0007218)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)										TGGCTGCACTGAAGATCGCAG	0.493																																						ENST00000422452.2																			0											c.(817-819)ttC>ttT		teneurin transmembrane protein 1							110	96	101					X																	123839059		2203	4300	6503	SO:0001819	synonymous_variant	10178							g.chrX:123839059G>A	AF100772	CCDS14609.1, CCDS55488.1	Xq25	2012-10-02	2012-10-02	2012-10-02	ENSG00000009694	ENSG00000009694			8117	protein-coding gene	gene with protein product		300588	"tenascin M", "odz, odd Oz/ten-m homolog 1 (Drosophila)"	ODZ3, TNM, ODZ1		10331952, 10341219	Standard	NM_001163278		Approved	TEN-M1	uc010nqy.3	Q9UKZ4	OTTHUMG00000022721	ENST00000371130.3:c.819C>T	X.37:g.123839059G>A						TENM1_ENST00000371130.3_Silent_p.F273F	p.F273F	NM_001163278.1|NM_001163279.1	NP_001156750.1|NP_001156751.1					5	882	-								B2RTR5|Q5JZ17	Silent	SNP	ENST00000371130.3	37	c.819C>T	CCDS14609.1																																																																																				0.493	TENM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058985.1	NM_014253		45	25	0	0	0	1	0	45	25					A	123839059	G	A	123839059	2	1	83	1	0	0	0	0	0	0	0	1	10834	1281	45	3		3	ODZ1	23	123839059	Silent	SNP	G	TCGA-EJ-7314-01A-31D-2114-08	18685480	123839059	31431501	46	4326											
L1CAM	3897	broad.mit.edu	37	chrX	153135593	153135593	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tactcgccatcatcctcctcGcccactttcagcagctgcag	7	10	6	18	2	2	0	2	0	0	0	6	0	4	0	4	0	4	3	4	0	1	2			TCGA-EJ-7314-01A-31D-2114-08	TCGA-EJ-7314-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5029ad2a-780b-4be9-920c-ee48da8e2f42	4aace255-a8e8-4e86-a431-b957c4f80e8d	g.chrX:153135593G>A	ENST00000370060.1	-	9	1098	c.909C>T	c.(907-909)ggC>ggT	p.G303G	L1CAM_ENST00000361699.4_Silent_p.G303G|L1CAM_ENST00000361981.3_Silent_p.G298G|L1CAM_ENST00000370057.3_Silent_p.G303G|L1CAM_ENST00000538883.1_Silent_p.G305G|L1CAM_ENST00000543994.1_Silent_p.G305G|L1CAM_ENST00000370055.1_Silent_p.G298G	NM_001278116.1	NP_001265045.1	P32004	L1CAM_HUMAN	L1 cell adhesion molecule	303	Ig-like C2-type 3.				axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell death (GO:0008219)|cell surface receptor signaling pathway (GO:0007166)|cell-cell adhesion mediated by integrin (GO:0033631)|chemotaxis (GO:0006935)|heterophilic cell-cell adhesion (GO:0007157)|homophilic cell adhesion (GO:0007156)|homotypic cell-cell adhesion (GO:0034109)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|nervous system development (GO:0007399)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of cell-cell adhesion (GO:0022409)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	sialic acid binding (GO:0033691)			NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	81	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CATCCTCCTCGCCCACTTTCA	0.632																																						ENST00000370060.1																			0				NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	81						c.(907-909)ggC>ggT		L1 cell adhesion molecule							188	160	170					X																	153135593		2203	4300	6503	SO:0001819	synonymous_variant	3897				axon guidance|blood coagulation|cell death|leukocyte migration	integral to membrane		g.chrX:153135593G>A	M74387	CCDS14733.1, CCDS14734.1, CCDS48192.1	Xq28	2014-09-17	2003-04-07		ENSG00000198910	ENSG00000198910		"CD molecules", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	6470	protein-coding gene	gene with protein product		308840	"antigen identified by monoclonal antibody R1"	HSAS1, SPG1, HSAS, MASA, MIC5, S10			Standard	NM_001278116		Approved	CD171	uc031tks.1	P32004	OTTHUMG00000024221	ENST00000370060.1:c.909C>T	X.37:g.153135593G>A						L1CAM_ENST00000370055.1_Silent_p.G298G|L1CAM_ENST00000370057.3_Silent_p.G303G|L1CAM_ENST00000361699.4_Silent_p.G303G|L1CAM_ENST00000361981.3_Silent_p.G298G|L1CAM_ENST00000543994.1_Silent_p.G305G|L1CAM_ENST00000538883.1_Silent_p.G305G	p.G303G	NM_001278116.1	NP_001265045.1	P32004	L1CAM_HUMAN			9	1098	-	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		303			Ig-like C2-type 3.		A0AV65|A4ZYW4|B2RMU7|G3XAF4|Q8TA87	Silent	SNP	ENST00000370060.1	37	c.909C>T	CCDS14733.1																																																																																				0.632	L1CAM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000061094.2	NM_024003		47	126	0	0	0	1	0	47	126					A	153135593	G	A	153135593	2	1	83	1	0	0	0	0	0	0	0	1	8588	1074	38	1		1	L1CAM	23	153135593	Silent	SNP	G	TCGA-EJ-7314-01A-31D-2114-08	29296534	153135593	2134967	47	4327											
RSC1A1	6248	broad.mit.edu	37	chr1	15987657	15987657	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agacagaaaaattaacaggtActtcatctgacactggaaga	18	8	8	7	0	2	4	1	1	1	3	2	5	2	5	0	2	2	1	0	2	5	3			TCGA-EJ-7315-01A-31D-2114-08	TCGA-EJ-7315-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11afac2e-9d8e-455c-8276-8cb5bdce0537	3aaa44ac-302b-430c-b503-d0de1f251a57	g.chr1:15987657A>G	ENST00000345034.1	+	1	1294	c.1294A>G	c.(1294-1296)Act>Gct	p.T432A	DDI2_ENST00000480945.1_3'UTR	NM_006511.1	NP_006502.1	Q92681	RSCA1_HUMAN	regulatory solute carrier protein, family 1, member 1	432					intestinal absorption (GO:0050892)|negative regulation of transport (GO:0051051)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|transport (GO:0006810)	brush border (GO:0005903)|cell junction (GO:0030054)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ion channel inhibitor activity (GO:0008200)			kidney(1)|large_intestine(3)|lung(6)|ovary(1)	11		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00276)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.73e-07)|COAD - Colon adenocarcinoma(227;3.49e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000114)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		ATTAACAGGTACTTCATCTGA	0.438																																						ENST00000345034.1																			0				kidney(1)|large_intestine(3)|lung(6)|ovary(1)	11						c.(1294-1296)Act>Gct		regulatory solute carrier protein, family 1, member 1							53	52	52					1																	15987657		2203	4300	6503	SO:0001583	missense	6248				negative regulation of transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transport	cell junction|Golgi apparatus|nucleus	ion channel inhibitor activity	g.chr1:15987657A>G	BN000122, X82877	CCDS161.1	1p36.1	1998-08-25			ENSG00000215695	ENSG00000215695			10458	protein-coding gene	gene with protein product		601966					Standard	NM_006511		Approved	RS1	uc010obn.2	Q92681	OTTHUMG00000067830	ENST00000345034.1:c.1294A>G	1.37:g.15987657A>G	ENSP00000341963:p.Thr432Ala					DDI2_ENST00000480945.1_3'UTR	p.T432A	NM_006511.1	NP_006502.1	Q92681	RSCA1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.73e-07)|COAD - Colon adenocarcinoma(227;3.49e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000114)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)	1	1294	+		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00276)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)	432					B2RBP5	Missense_Mutation	SNP	ENST00000345034.1	37	c.1294A>G	CCDS161.1	.	.	.	.	.	.	.	.	.	.	A	8.498	0.863696	0.17250	.	.	ENSG00000215695	ENST00000345034	T	0.24350	1.86	5.42	-3.39	0.04868	.	1.228200	0.06076	N	0.660912	T	0.10252	0.0251	N	0.12746	0.255	0.09310	N	1	B	0.17268	0.021	B	0.15484	0.013	T	0.28933	-1.0028	10	0.13470	T	0.59	-0.6825	1.8328	0.03133	0.365:0.2307:0.2917:0.1127	.	432	Q92681	RSCA1_HUMAN	A	432	ENSP00000341963:T432A	ENSP00000341963:T432A	T	+	1	0	RSC1A1	15860244	0.000000	0.05858	0.003000	0.11579	0.002000	0.02628	-1.076000	0.03420	-0.496000	0.06650	0.533000	0.62120	ACT		0.438	RSC1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000145500.1	NM_006511		13	25	0	0	0	1	0	13	25					G	15987657	A	G	15987657	3	3	84	1	0	0	0	0	1	0	0	0	13698	391	14	4	1296	4	RSC1A1	1	15987657	Missense_Mutation	SNP	A	TCGA-EJ-7315-01A-31D-2114-08		15987657	233262964	1	4328											
DMAP1	55929	broad.mit.edu	37	chr1	44680509	44680509	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgcaaggacggagcaatgtTcttccactggcgacgtgcag	9	7	13	12	4	1	0	0	0	1	0	2	3	2	2	2	3	2	4	2	3	2	2			TCGA-EJ-7315-01A-31D-2114-08	TCGA-EJ-7315-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11afac2e-9d8e-455c-8276-8cb5bdce0537	3aaa44ac-302b-430c-b503-d0de1f251a57	g.chr1:44680509T>G	ENST00000372289.2	+	3	595	c.332T>G	c.(331-333)tTc>tGc	p.F111C	DMAP1_ENST00000361745.6_Missense_Mutation_p.F111C|DMAP1_ENST00000488433.1_3'UTR|DMAP1_ENST00000315913.5_Missense_Mutation_p.F111C	NM_019100.4	NP_061973.1	Q9NPF5	DMAP1_HUMAN	DNA methyltransferase 1 associated protein 1	111					chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|DNA methylation (GO:0006306)|DNA repair (GO:0006281)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription factor import into nucleus (GO:0042993)|regulation of growth (GO:0040008)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|replication fork (GO:0005657)	chromatin binding (GO:0003682)|RNA polymerase II repressing transcription factor binding (GO:0001103)|transcription corepressor activity (GO:0003714)			breast(1)|cervix(1)|endometrium(6)|large_intestine(1)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16	Acute lymphoblastic leukemia(166;0.155)					GGAGCAATGTTCTTCCACTGG	0.572																																						ENST00000372289.2																			0				breast(1)|cervix(1)|endometrium(6)|large_intestine(1)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16						c.(331-333)tTc>tGc		DNA methyltransferase 1 associated protein 1							86	75	79					1																	44680509		2203	4300	6503	SO:0001583	missense	55929				DNA methylation|histone H2A acetylation|histone H4 acetylation|negative regulation of transcription, DNA-dependent|regulation of growth|transcription, DNA-dependent	NuA4 histone acetyltransferase complex	DNA binding|protein binding	g.chr1:44680509T>G	AB037846	CCDS509.1	1p34	2009-07-13			ENSG00000178028	ENSG00000178028			18291	protein-coding gene	gene with protein product		605077				10888872, 10718198	Standard	XM_005271039		Approved	DNMAP1, FLJ11543, KIAA1425, DNMTAP1, EAF2, MEAF2, SWC4	uc001clq.1	Q9NPF5	OTTHUMG00000007577	ENST00000372289.2:c.332T>G	1.37:g.44680509T>G	ENSP00000361363:p.Phe111Cys					DMAP1_ENST00000315913.5_Missense_Mutation_p.F111C|DMAP1_ENST00000361745.6_Missense_Mutation_p.F111C|DMAP1_ENST00000488433.1_3'UTR	p.F111C	NM_019100.4	NP_061973.1	Q9NPF5	DMAP1_HUMAN			3	595	+	Acute lymphoblastic leukemia(166;0.155)		111					A8K001|D3DPY8|Q0JSM4|Q5TG41|Q7Z3H7|Q9H0S8|Q9P2C2	Missense_Mutation	SNP	ENST00000372289.2	37	c.332T>G	CCDS509.1	.	.	.	.	.	.	.	.	.	.	T	25.6	4.652314	0.88056	.	.	ENSG00000178028	ENST00000361745;ENST00000446292;ENST00000372283;ENST00000440641;ENST00000436069;ENST00000437511;ENST00000315913;ENST00000372289;ENST00000372290	T;T;T;T;T;T;T;T	0.24151	1.87;1.87;1.87;1.87;1.87;1.87;1.87;1.87	5.27	5.27	0.74061	.	0.000000	0.85682	D	0.000000	T	0.54822	0.1882	M	0.82517	2.595	0.80722	D	1	D;D;D;D;D;D	0.89917	0.999;1.0;1.0;1.0;1.0;0.999	D;D;D;D;D;D	0.81914	0.969;0.993;0.975;0.976;0.995;0.962	T	0.62229	-0.6898	10	0.87932	D	0	-12.0587	15.4969	0.75662	0.0:0.0:0.0:1.0	.	111;111;111;111;137;111	B4DQG8;B4DEF2;B4DTH3;B4DTU6;B4DU03;Q9NPF5	.;.;.;.;.;DMAP1_HUMAN	C	111;111;137;111;137;137;111;111;82	ENSP00000354697:F111C;ENSP00000409200:F111C;ENSP00000401099:F111C;ENSP00000400269:F137C;ENSP00000402494:F137C;ENSP00000312697:F111C;ENSP00000361363:F111C;ENSP00000361364:F82C	ENSP00000312697:F111C	F	+	2	0	DMAP1	44453096	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.655000	0.83696	2.114000	0.64651	0.533000	0.62120	TTC		0.572	DMAP1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000020027.3	NM_019100		6	63	0	0	0	1	0	6	63					G	44680509	T	G	44680509	3	3	84	1	0	0	0	0	1	0	0	0	4576	1783	62	5	342	5	DMAP1	1	44680509	Missense_Mutation	SNP	T	TCGA-EJ-7315-01A-31D-2114-08	28692852	44680509	204570112	2	4329											
RYR2	6262	broad.mit.edu	37	chr1	237813234	237813234	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcggtacctttgcacagccGtcttgccattgttaacaaga	10	12	8	11	2	1	1	0	0	1	1	2	1	1	1	3	1	5	3	3	1	3	5			TCGA-EJ-7315-01A-31D-2114-08	TCGA-EJ-7315-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11afac2e-9d8e-455c-8276-8cb5bdce0537	3aaa44ac-302b-430c-b503-d0de1f251a57	g.chr1:237813234G>A	ENST00000366574.2	+	50	7887	c.7570G>A	c.(7570-7572)Gtc>Atc	p.V2524I	RYR2_ENST00000542537.1_Missense_Mutation_p.V2508I|RYR2_ENST00000360064.6_Missense_Mutation_p.V2522I	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	2524	4 X approximate repeats.				BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TTGCACAGCCGTCTTGCCATT	0.463																																						ENST00000366574.2																			0				NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586						c.(7570-7572)Gtc>Atc		ryanodine receptor 2 (cardiac)							172	165	167					1																	237813234		2021	4187	6208	SO:0001583	missense	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237813234G>A	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"Ion channels / Ryanodine receptors", "EF-hand domain containing"	10484	protein-coding gene	gene with protein product		180902	"arrhythmogenic right ventricular dysplasia 2"	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.7570G>A	1.37:g.237813234G>A	ENSP00000355533:p.Val2524Ile					RYR2_ENST00000542537.1_Missense_Mutation_p.V2508I|RYR2_ENST00000360064.6_Missense_Mutation_p.V2522I	p.V2524I	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		50	7887	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	2524			4 X approximate repeats.		Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	c.7570G>A	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	G	17.68	3.450510	0.63290	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	D;D;D	0.87887	-2.31;-2.31;-2.31	5.48	5.48	0.80851	.	0.099678	0.39615	N	0.001306	T	0.81527	0.4841	L	0.38838	1.175	0.80722	D	1	D	0.57257	0.979	B	0.38156	0.266	T	0.81037	-0.1114	10	0.29301	T	0.29	-16.546	19.7098	0.96094	0.0:0.0:1.0:0.0	.	2524	Q92736	RYR2_HUMAN	I	2524;2522;2508	ENSP00000355533:V2524I;ENSP00000353174:V2522I;ENSP00000443798:V2508I	ENSP00000353174:V2522I	V	+	1	0	RYR2	235879857	1.000000	0.71417	0.997000	0.53966	0.834000	0.47266	7.882000	0.87258	2.713000	0.92767	0.655000	0.94253	GTC		0.463	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		48	105	0	0	0	1	0	48	105					A	237813234	G	A	237813234	3	1	84	1	0	0	0	0	1	0	0	0	13769	1145	40	1	7768	1	RYR2	1	237813234	Missense_Mutation	SNP	G	TCGA-EJ-7315-01A-31D-2114-08	193132725	237813234	11437387	3	4330											
KIDINS220	57498	broad.mit.edu	37	chr2	8874814	8874814	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gaaaaggtgccagtctccaaAattcatattcatctctttct	12	14	5	10	0	5	0	2	0	3	0	7	1	5	0	2	1	1	0	2	1	5	4			TCGA-EJ-7315-01A-31D-2114-08	TCGA-EJ-7315-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11afac2e-9d8e-455c-8276-8cb5bdce0537	3aaa44ac-302b-430c-b503-d0de1f251a57	g.chr2:8874814A>C	ENST00000256707.3	-	28	3968	c.3787T>G	c.(3787-3789)Ttt>Gtt	p.F1263V	KIDINS220_ENST00000427284.1_Missense_Mutation_p.F1244V|KIDINS220_ENST00000473731.1_Missense_Mutation_p.F1244V|KIDINS220_ENST00000418530.1_Missense_Mutation_p.F1164V	NM_020738.2	NP_065789.1	Q9ULH0	KDIS_HUMAN	kinase D-interacting substrate, 220kDa	1263					activation of MAPKK activity (GO:0000186)|cellular response to nerve growth factor stimulus (GO:1990090)|cytoplasmic transport (GO:0016482)|dendrite morphogenesis (GO:0048813)|in utero embryonic development (GO:0001701)|nerve growth factor signaling pathway (GO:0038180)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of neuron projection development (GO:0010976)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|membrane (GO:0016020)|protein complex (GO:0043234)	PDZ domain binding (GO:0030165)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(25)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	60	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					CAGTCTCCAAAATTCATATTC	0.299																																						ENST00000256707.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(25)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	60						c.(3787-3789)Ttt>Gtt		kinase D-interacting substrate, 220kDa							93	88	90					2																	8874814		1850	4090	5940	SO:0001583	missense	57498				activation of MAPKK activity|nerve growth factor receptor signaling pathway	cytosol|integral to membrane		g.chr2:8874814A>C	AK025528	CCDS42650.1	2p24	2013-01-10			ENSG00000134313	ENSG00000134313		"Ankyrin repeat domain containing"	29508	protein-coding gene	gene with protein product	"ankyrin repeat-rich membrane-spanning protein"	615759				10998417, 10574462	Standard	NM_020738		Approved	ARMS	uc002qzc.2	Q9ULH0	OTTHUMG00000151658	ENST00000256707.3:c.3787T>G	2.37:g.8874814A>C	ENSP00000256707:p.Phe1263Val					KIDINS220_ENST00000473731.1_Missense_Mutation_p.F1244V|KIDINS220_ENST00000427284.1_Missense_Mutation_p.F1244V|KIDINS220_ENST00000418530.1_Missense_Mutation_p.F1164V	p.F1263V	NM_020738.2	NP_065789.1	Q9ULH0	KDIS_HUMAN			28	3968	-	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		1263					A1L4N4|Q4VC08|Q6MZU2|Q9H889|Q9H9E4|Q9NT37|Q9UF42	Missense_Mutation	SNP	ENST00000256707.3	37	c.3787T>G	CCDS42650.1	.	.	.	.	.	.	.	.	.	.	A	29.5	5.009234	0.93346	.	.	ENSG00000134313	ENST00000496383;ENST00000541927;ENST00000256707;ENST00000427284;ENST00000418530;ENST00000473731;ENST00000489024	T;T;T;T;T;T	0.41065	1.01;1.01;1.01;1.01;1.01;1.01	5.96	5.96	0.96718	Sterile alpha motif/pointed domain (2);	0.000000	0.85682	D	0.000000	T	0.67757	0.2927	M	0.81942	2.565	0.80722	D	1	D;D;D;D;D	0.89917	0.993;1.0;0.999;0.999;0.997	D;D;D;D;D	0.91635	0.968;0.999;0.999;0.997;0.978	T	0.72221	-0.4356	10	0.87932	D	0	.	16.4484	0.83959	1.0:0.0:0.0:0.0	.	1207;1207;1164;1263;117	B4DK94;E9PH70;Q9ULH0-2;Q9ULH0;B4DG84	.;.;.;KDIS_HUMAN;.	V	953;890;1263;1244;1164;1244;1207	ENSP00000420364:F953V;ENSP00000256707:F1263V;ENSP00000411849:F1244V;ENSP00000414923:F1164V;ENSP00000418974:F1244V;ENSP00000419964:F1207V	ENSP00000256707:F1263V	F	-	1	0	KIDINS220	8792265	1.000000	0.71417	0.999000	0.59377	0.999000	0.98932	8.894000	0.92506	2.285000	0.76669	0.533000	0.62120	TTT		0.299	KIDINS220-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323408.2	NM_020738		19	26	0	0	0	1	0	19	26					C	8874814	A	C	8874814	3	2	84	1	0	0	0	0	1	0	0	0	8271	14	1	5	1540	5	KIDINS220	2	8874814	Missense_Mutation	SNP	A	TCGA-EJ-7315-01A-31D-2114-08		8874814	234324559	4	4331											
ITSN2	50618	broad.mit.edu	37	chr2	24483975	24483975	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaaataacagacaacatacCtgtccatgaataggtgatac	19	8	6	8	0	0	3	0	2	0	1	1	3	1	3	2	1	4	0	2	1	8	4			TCGA-EJ-7315-01A-31D-2114-08	TCGA-EJ-7315-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11afac2e-9d8e-455c-8276-8cb5bdce0537	3aaa44ac-302b-430c-b503-d0de1f251a57	g.chr2:24483975C>A	ENST00000355123.4	-	22	3125	c.2682G>T	c.(2680-2682)caG>caT	p.Q894H	ITSN2_ENST00000406921.3_Splice_Site_p.Q894H|ITSN2_ENST00000361999.3_Splice_Site_p.Q867H	NM_006277.2	NP_006268.2	Q9NZM3	ITSN2_HUMAN	intersectin 2	894					endocytosis (GO:0006897)|positive regulation of signal transduction (GO:0009967)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|SH3/SH2 adaptor activity (GO:0005070)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(8)|large_intestine(11)|liver(3)|lung(28)|ovary(2)|stomach(1)	61	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GACAACATACCTGTCCATGAA	0.343																																						ENST00000355123.4																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(8)|large_intestine(11)|liver(3)|lung(28)|ovary(2)|stomach(1)	61						c.e22+1		intersectin 2							112	105	107					2																	24483975		2203	4300	6503	SO:0001630	splice_region_variant	50618				endocytosis|regulation of Rho protein signal transduction	cytoplasm	calcium ion binding|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity	g.chr2:24483975C>A	AB033082	CCDS1710.2, CCDS1711.2, CCDS46230.1	2p23.3	2013-09-19	2002-10-30		ENSG00000198399	ENSG00000198399		"Rho guanine nucleotide exchange factors", "EF-hand domain containing"	6184	protein-coding gene	gene with protein product	"SH3 domain protein 1B", "SH3P18-like WASP associated protein"	604464	"SH3 domain protein 1B"	SH3D1B		10922467, 11748279	Standard	NM_006277		Approved	KIAA1256, SWAP, SH3P18, SWA, PRO2015	uc002rfe.2	Q9NZM3	OTTHUMG00000090818	ENST00000355123.4:c.2682+1G>T	2.37:g.24483975C>A						ITSN2_ENST00000406921.3_Splice_Site_p.Q894_splice|ITSN2_ENST00000361999.3_Splice_Site_p.Q867_splice	p.Q894_splice	NM_006277.2	NP_006268.2	Q9NZM3	ITSN2_HUMAN			22	3125	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		894					O95062|Q15812|Q9HAK4|Q9NXE6|Q9NYG0|Q9NZM2|Q9ULG4	Splice_Site	SNP	ENST00000355123.4	37	c.2682_splice	CCDS1710.2	.	.	.	.	.	.	.	.	.	.	C	15.17	2.753300	0.49362	.	.	ENSG00000198399	ENST00000361999;ENST00000355123;ENST00000380868;ENST00000406921	T;T;T;T	0.17370	2.28;2.28;2.28;2.28	5.12	4.24	0.50183	Src homology-3 domain (1);	0.000000	0.35677	U	0.003055	T	0.31167	0.0788	L	0.39898	1.24	0.46458	D	0.999058	D;D;D	0.64830	0.994;0.994;0.99	D;D;D	0.78314	0.991;0.991;0.979	T	0.01652	-1.1303	9	.	.	.	.	13.7786	0.63069	0.0:0.9253:0.0:0.0747	.	894;867;894	Q9NZM3-3;Q9NZM3-2;Q9NZM3	.;.;ITSN2_HUMAN	H	867;894;867;894	ENSP00000354561:Q867H;ENSP00000347244:Q894H;ENSP00000370250:Q867H;ENSP00000384499:Q894H	.	Q	-	3	2	ITSN2	24337479	1.000000	0.71417	1.000000	0.80357	0.883000	0.51084	2.362000	0.44169	1.299000	0.44798	0.555000	0.69702	CAG		0.343	ITSN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207620.2	NM_006277	Missense_Mutation	3	59	1	0	1	1	1	3	59					A	24483975	C	A	24483975	5	1	84	1	0	0	0	0	0	0	1	0	7927	695	24	5	2538	5	ITSN2	2	24483975	Splice_Site	SNP	C	TCGA-EJ-7315-01A-31D-2114-08	15609161	24483975	218715398	5	4332											
CAPN13	92291	broad.mit.edu	37	chr2	30961160	30961160	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaacatgtcccctggaggtcCtgaggagagaaggacaggaa	13	5	15	8	0	0	2	0	1	0	1	2	8	2	6	3	5	1	0	3	5	3	0			TCGA-EJ-7315-01A-31D-2114-08	TCGA-EJ-7315-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11afac2e-9d8e-455c-8276-8cb5bdce0537	3aaa44ac-302b-430c-b503-d0de1f251a57	g.chr2:30961160C>T	ENST00000295055.8	-	17	1771		c.e17-1		CAPN13_ENST00000534090.2_Splice_Site	NM_144575.2	NP_653176.2	Q6MZZ7	CAN13_HUMAN	calpain 13						proteolysis (GO:0006508)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(1)	30	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.155)					CCTGGAGGTCCTGAGGAGAGA	0.597																																						ENST00000295055.8																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(1)	30						c.e17-1		calpain 13							72	75	74					2																	30961160		2033	4187	6220	SO:0001630	splice_region_variant	92291				proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity	g.chr2:30961160C>T		CCDS46252.1	2p22-p21	2008-02-05			ENSG00000162949	ENSG00000162949			16663	protein-coding gene	gene with protein product		610228				11675017	Standard	NM_144575		Approved	FLJ23523	uc021vfm.1	Q6MZZ7	OTTHUMG00000152053	ENST00000295055.8:c.1595-1G>A	2.37:g.30961160C>T						CAPN13_ENST00000534090.2_Splice_Site		NM_144575.2	NP_653176.2	Q6MZZ7	CAN13_HUMAN			17	1771	-	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.155)							Q17RF0|Q580X1|Q8TE80	Splice_Site	SNP	ENST00000295055.8	37		CCDS46252.1	.	.	.	.	.	.	.	.	.	.	C	12.57	1.977933	0.34942	.	.	ENSG00000162949	ENST00000295055;ENST00000534090	.	.	.	4.87	3.98	0.46160	.	.	.	.	.	.	.	.	.	.	.	0.58432	D	0.999993	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.5879	0.39528	0.0:0.8989:0.0:0.1011	.	.	.	.	.	-1	.	.	.	-	.	.	CAPN13	30814664	1.000000	0.71417	0.948000	0.38648	0.169000	0.22640	3.919000	0.56439	2.268000	0.75426	0.455000	0.32223	.		0.597	CAPN13-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000325101.2	NM_144575	Intron	4	42	0	0	0	1	0	4	42					T	30961160	C	T	30961160	5	4	84	1	0	0	0	0	0	0	1	0	2626	695	24	3	439	3	CAPN13	2	30961160	Splice_Site	SNP	C	TCGA-EJ-7315-01A-31D-2114-08	6477185	30961160	212238213	6	4333											
SLC30A6	55676	broad.mit.edu	37	chr2	32429723	32429723	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgatgacatttggcactatgTatcccatgagtgtgtacagt	10	14	10	7	0	0	3	0	3	0	0	1	3	1	3	1	1	1	3	1	1	3	4			TCGA-EJ-7315-01A-31D-2114-08	TCGA-EJ-7315-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11afac2e-9d8e-455c-8276-8cb5bdce0537	3aaa44ac-302b-430c-b503-d0de1f251a57	g.chr2:32429723T>C	ENST00000282587.5	+	11	767	c.730T>C	c.(730-732)Tat>Cat	p.Y244H	SLC30A6_ENST00000357055.3_Missense_Mutation_p.Y47H|SLC30A6_ENST00000406369.1_Missense_Mutation_p.Y170H|SLC30A6_ENST00000379343.2_Missense_Mutation_p.Y284H|SLC30A6_ENST00000435660.1_Missense_Mutation_p.Y244H|SLC30A6_ENST00000538303.1_Missense_Mutation_p.Y215H	NM_017964.3	NP_060434.2	Q6NXT4	ZNT6_HUMAN	solute carrier family 30 (zinc transporter), member 6	244					cellular protein metabolic process (GO:0044267)|Golgi to endosome transport (GO:0006895)|transmembrane transport (GO:0055085)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	zinc ion transmembrane transporter activity (GO:0005385)			endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(4)|lung(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					TGGCACTATGTATCCCATGAG	0.358																																						ENST00000282587.5																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(4)|lung(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(730-732)Tat>Cat		solute carrier family 30 (zinc transporter), member 6							147	126	133					2																	32429723		2203	4300	6503	SO:0001583	missense	55676					Golgi membrane|integral to membrane	zinc ion transmembrane transporter activity	g.chr2:32429723T>C	AK055663	CCDS1780.1, CCDS54341.1, CCDS54342.1, CCDS54343.1	2p22.3	2013-05-22			ENSG00000152683	ENSG00000152683		"Solute carriers"	19305	protein-coding gene	gene with protein product		611148					Standard	NM_017964		Approved	FLJ31101, ZNT6	uc002rof.2	Q6NXT4	OTTHUMG00000128456	ENST00000282587.5:c.730T>C	2.37:g.32429723T>C	ENSP00000282587:p.Tyr244His					SLC30A6_ENST00000538303.1_Missense_Mutation_p.Y215H|SLC30A6_ENST00000357055.3_Missense_Mutation_p.Y47H|SLC30A6_ENST00000435660.1_Missense_Mutation_p.Y244H|SLC30A6_ENST00000406369.1_Missense_Mutation_p.Y170H|SLC30A6_ENST00000379343.2_Missense_Mutation_p.Y284H	p.Y244H	NM_017964.3	NP_060434.2	Q6NXT4	ZNT6_HUMAN			11	767	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)		244					A5YM45|B7Z901|Q8N5C9|Q96NC3	Missense_Mutation	SNP	ENST00000282587.5	37	c.730T>C	CCDS1780.1	.	.	.	.	.	.	.	.	.	.	T	25.6	4.653533	0.88056	.	.	ENSG00000152683	ENST00000379343;ENST00000282587;ENST00000435660;ENST00000538303;ENST00000357055;ENST00000406369	T;T;T;T;T;T	0.67171	-0.25;-0.25;-0.25;-0.25;-0.25;-0.25	5.39	5.39	0.77823	.	0.000000	0.85682	D	0.000000	T	0.69575	0.3126	L	0.43152	1.355	0.80722	D	1	P;P;P;P	0.41214	0.564;0.654;0.742;0.703	P;B;P;P	0.49637	0.617;0.413;0.605;0.549	T	0.71580	-0.4550	10	0.54805	T	0.06	-19.437	15.0759	0.72077	0.0:0.0:0.0:1.0	.	215;244;284;244	B7Z901;Q6NXT4-3;Q6NXT4-2;Q6NXT4	.;.;.;ZNT6_HUMAN	H	284;244;244;215;47;170	ENSP00000368648:Y284H;ENSP00000282587:Y244H;ENSP00000399005:Y244H;ENSP00000440678:Y215H;ENSP00000349563:Y47H;ENSP00000384041:Y170H	ENSP00000282587:Y244H	Y	+	1	0	SLC30A6	32283227	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	7.472000	0.80996	2.041000	0.60428	0.460000	0.39030	TAT		0.358	SLC30A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250254.2			21	52	0	0	0	1	0	21	52					C	32429723	T	C	32429723	3	2	84	1	0	0	0	0	1	0	0	0	14559	1638	57	4	772	4	SLC30A6	2	32429723	Missense_Mutation	SNP	T	TCGA-EJ-7315-01A-31D-2114-08	1468563	32429723	210769650	7	4334											
ERBB4	2066	broad.mit.edu	37	chr2	212288967	212288967	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taataaatcagggatttctcGcgttggaattccatcatagg	12	13	9	7	2	3	0	2	0	1	0	5	2	4	2	1	3	0	1	1	3	5	6	rs537458255		TCGA-EJ-7315-01A-31D-2114-08	TCGA-EJ-7315-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11afac2e-9d8e-455c-8276-8cb5bdce0537	3aaa44ac-302b-430c-b503-d0de1f251a57	g.chr2:212288967G>A	ENST00000342788.4	-	23	3089	c.2779C>T	c.(2779-2781)Cga>Tga	p.R927*	ERBB4_ENST00000436443.1_Nonsense_Mutation_p.R927*|ERBB4_ENST00000402597.1_Nonsense_Mutation_p.R917*	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	927	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		R -> Q (in ALS19; reduces autophosphorylation upon NRG1 stimulation). {ECO:0000269|PubMed:24119685}.		cardiac muscle tissue regeneration (GO:0061026)|cell fate commitment (GO:0045165)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system morphogenesis (GO:0021551)|embryonic pattern specification (GO:0009880)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|lactation (GO:0007595)|mammary gland alveolus development (GO:0060749)|mammary gland epithelial cell differentiation (GO:0060644)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|neurotrophin TRK receptor signaling pathway (GO:0048011)|olfactory bulb interneuron differentiation (GO:0021889)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of STAT protein import into nucleus (GO:2000366)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|regulation of cell migration (GO:0030334)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	basolateral plasma membrane (GO:0016323)|cytosol (GO:0005829)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|epidermal growth factor receptor binding (GO:0005154)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transcription regulatory region DNA binding (GO:0044212)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)	Afatinib(DB08916)	GGGATTTCTCGCGTTGGAATT	0.388										TSP Lung(8;0.080)			G|||	1	0.000199681	8e-04	0	5008	,	,		16704	0		0	False		,,,				2504	0					ENST00000342788.4																			0				NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179						c.(2779-2781)Cga>Tga		v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4							108	105	106					2																	212288967		2203	4300	6503	SO:0001587	stop_gained	2066				cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity	g.chr2:212288967G>A	L07868	CCDS2394.1, CCDS42811.1	2q33.3-q34	2013-10-11	2013-07-09		ENSG00000178568	ENSG00000178568			3432	protein-coding gene	gene with protein product		600543	"v-erb-a avian erythroblastic leukemia viral oncogene homolog-like 4"			7700649, 17018285	Standard	NM_001042599		Approved	ALS19	uc002veg.1	Q15303	OTTHUMG00000133012	ENST00000342788.4:c.2779C>T	2.37:g.212288967G>A	ENSP00000342235:p.Arg927*	TSP Lung(8;0.080)				ERBB4_ENST00000402597.1_Nonsense_Mutation_p.R917*|ERBB4_ENST00000436443.1_Nonsense_Mutation_p.R927*	p.R927*	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)	23	3089	-		Renal(323;0.06)|Lung NSC(271;0.197)	927			Protein kinase.		B7ZLD7|B7ZLE2|B7ZLE3|Q2M1W1|Q59EW4	Nonsense_Mutation	SNP	ENST00000342788.4	37	c.2779C>T	CCDS2394.1	.	.	.	.	.	.	.	.	.	.	G	38	7.087770	0.98055	.	.	ENSG00000178568	ENST00000342788;ENST00000436443;ENST00000402597	.	.	.	6.16	3.07	0.35406	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	17.0429	0.86494	0.0:0.0:0.5723:0.4277	.	.	.	.	X	927;927;917	.	ENSP00000342235:R927X	R	-	1	2	ERBB4	211997212	0.984000	0.35163	0.959000	0.39883	0.984000	0.73092	1.776000	0.38594	0.898000	0.36418	0.650000	0.86243	CGA		0.388	ERBB4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256597.1	NM_001042599		16	44	0	0	0	1	0	16	44					A	212288967	G	A	212288967	4	1	84	1	0	0	0	0	0	1	0	0	5209	1095	38	1	1171	1	ERBB4	2	212288967	Nonsense_Mutation	SNP	G	TCGA-EJ-7315-01A-31D-2114-08	179859244	212288967	30910406	8	4335											
GBE1	2632	broad.mit.edu	37	chr3	81627235	81627235	+	Frame_Shift_Del	DEL	C	C	-																															ccaaaatgccagcgacttatCcccaaccaatgcctacagaa																										TCGA-EJ-7315-01A-31D-2114-08	TCGA-EJ-7315-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11afac2e-9d8e-455c-8276-8cb5bdce0537	3aaa44ac-302b-430c-b503-d0de1f251a57	g.chr3:81627235delC	ENST00000429644.2	-	12	2102	c.1459delG	c.(1459-1461)gatfs	p.D487fs	GBE1_ENST00000489715.1_Frame_Shift_Del_p.D446fs	NM_000158.3	NP_000149	Q04446	GLGB_HUMAN	glucan (1,4-alpha-), branching enzyme 1	487					carbohydrate metabolic process (GO:0005975)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|glycogen metabolic process (GO:0005977)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	1,4-alpha-glucan branching enzyme activity (GO:0003844)|cation binding (GO:0043169)|hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)			breast(1)|endometrium(5)|large_intestine(2)|lung(4)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Lung NSC(201;0.0117)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0654)|Epithelial(33;0.00305)|LUSC - Lung squamous cell carcinoma(29;0.00646)|BRCA - Breast invasive adenocarcinoma(55;0.00813)|Lung(72;0.0129)|KIRC - Kidney renal clear cell carcinoma(39;0.212)|Kidney(39;0.247)		AGCGACTTATCCCCAACCAAT	0.363									Glycogen Storage Disease, type IV																													ENST00000429644.2																			0				breast(1)|endometrium(5)|large_intestine(2)|lung(4)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						c.(1459-1461)atfs		glucan (1,4-alpha-), branching enzyme 1							55	51	52					3																	81627235		1884	4108	5992	SO:0001589	frameshift_variant	2632	Glycogen Storage Disease, type IV	Familial Cancer Database	Andersen Disease, Brancher deficiency	glucose metabolic process|glycogen biosynthetic process	cytosol	1,4-alpha-glucan branching enzyme activity|cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds	g.chr3:81627235delC		CCDS54612.1	3p12.2	2013-09-20	2008-08-01		ENSG00000114480	ENSG00000114480	2.4.1.18		4180	protein-coding gene	gene with protein product	"glycogen branching enzyme", "Andersen disease", "glycogen storage disease type IV"	607839				8463281	Standard	NM_000158		Approved		uc021xav.1	Q04446	OTTHUMG00000158978	ENST00000429644.2:c.1459delG	3.37:g.81627235delC	ENSP00000410833:p.Asp487fs					GBE1_ENST00000489715.1_Frame_Shift_Del_p.D446fs	p.D487fs	NM_000158.3	NP_000149.3	Q04446	GLGB_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0654)|Epithelial(33;0.00305)|LUSC - Lung squamous cell carcinoma(29;0.00646)|BRCA - Breast invasive adenocarcinoma(55;0.00813)|Lung(72;0.0129)|KIRC - Kidney renal clear cell carcinoma(39;0.212)|Kidney(39;0.247)	12	2102	-		Lung NSC(201;0.0117)	487					B3KWV3|Q96EN0	Frame_Shift_Del	DEL	ENST00000429644.2	37	c.1459delG	CCDS54612.1																																																																																				0.363	GBE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352760.2			2	4						2	4	---	---	---	---	-	81627235	C	-	81627235	7	5	84	1	0	1	0	1	0	0	0	0	6270	855	30	0	669	0	GBE1	3	81627235	Frame_Shift_Del	DEL	C	TCGA-EJ-7315-01A-31D-2114-08		81627235	116395195	9	4336											
PLXNA1	5361	broad.mit.edu	37	chr3	126748890	126748890	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctcggagatctacttgacaCggctactggccaccaaggtg	9	9	11	12	2	2	2	0	1	2	1	3	3	2	2	2	4	2	1	2	4	3	3			TCGA-EJ-7315-01A-31D-2114-08	TCGA-EJ-7315-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11afac2e-9d8e-455c-8276-8cb5bdce0537	3aaa44ac-302b-430c-b503-d0de1f251a57	g.chr3:126748890C>A	ENST00000393409.2	+	27	5044	c.5044C>A	c.(5044-5046)Cgg>Agg	p.R1682R	PLXNA1_ENST00000251772.4_Silent_p.R1659R	NM_032242.3	NP_115618.3	Q9UIW2	PLXA1_HUMAN	plexin A1	1682					axon guidance (GO:0007411)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|multicellular organismal development (GO:0007275)|regulation of smooth muscle cell migration (GO:0014910)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	receptor activity (GO:0004872)|semaphorin receptor activity (GO:0017154)			breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67				GBM - Glioblastoma multiforme(114;0.155)		CTACTTGACACGGCTACTGGC	0.637																																						ENST00000251772.4																			0				breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67						c.(4975-4977)Cgg>Agg		plexin A1							80	80	80					3																	126748890		2203	4300	6503	SO:0001819	synonymous_variant	5361				axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity	g.chr3:126748890C>A	X87832	CCDS33847.1, CCDS33847.2	3q21.2	2006-12-19				ENSG00000114554		"Plexins"	9099	protein-coding gene	gene with protein product		601055		PLXN1		8570614	Standard	NM_032242		Approved	NOV	uc003ejg.3	Q9UIW2		ENST00000393409.2:c.5044C>A	3.37:g.126748890C>A						PLXNA1_ENST00000393409.2_Silent_p.R1682R	p.R1659R			Q9UIW2	PLXA1_HUMAN		GBM - Glioblastoma multiforme(114;0.155)	27	5044	+			1682						Silent	SNP	ENST00000393409.2	37	c.4975C>A	CCDS33847.2																																																																																				0.637	PLXNA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356451.1	NM_032242		3	95	1	0	0.115264	1	0.119875	3	95					A	126748890	C	A	126748890	2	1	84	1	0	0	0	0	0	0	0	1	12119	527	19	5		5	PLXNA1	3	126748890	Silent	SNP	C	TCGA-EJ-7315-01A-31D-2114-08	45121655	126748890	71273540	10	4337											
CLSTN2	64084	broad.mit.edu	37	chr3	140277663	140277663	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaagattgtgagcaccttcGccaaaaccgaagcccccggg	11	6	10	14	3	1	2	1	1	0	1	2	3	1	2	5	1	3	1	5	1	4	2	rs137889465		TCGA-EJ-7315-01A-31D-2114-08	TCGA-EJ-7315-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11afac2e-9d8e-455c-8276-8cb5bdce0537	3aaa44ac-302b-430c-b503-d0de1f251a57	g.chr3:140277663G>A	ENST00000458420.3	+	12	2195	c.2005G>A	c.(2005-2007)Gcc>Acc	p.A669T		NM_022131.2	NP_071414.2	Q9H4D0	CSTN2_HUMAN	calsyntenin 2	669					homophilic cell adhesion (GO:0007156)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)	calcium ion binding (GO:0005509)	p.A669T(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	87						GAGCACCTTCGCCAAAACCGA	0.532										HNSCC(16;0.037)			G|||	1	0.000199681	0	0.0014	5008	,	,		18296	0		0	False		,,,				2504	0				GBM(45;858 913 3709 36904 37282)	ENST00000458420.3																			1	Substitution - Missense(1)	p.A669T(1)	large_intestine(1)	NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	87						c.(2005-2007)Gcc>Acc		calsyntenin 2		G	THR/ALA	2,4404	4.2+/-10.8	0,2,2201	48	50	49		2005	2.5	0	3	dbSNP_134	49	0,8600		0,0,4300	no	missense	CLSTN2	NM_022131.2	58	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	benign	669/956	140277663	2,13004	2203	4300	6503	SO:0001583	missense	64084				homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding	g.chr3:140277663G>A	AJ278018	CCDS3112.1	3q23	2011-07-01			ENSG00000158258	ENSG00000158258		"Cadherins / Cadherin-related"	17448	protein-coding gene	gene with protein product	"cadherin-related family member 13"	611323				12498782	Standard	NM_022131		Approved	CSTN2, CS2, FLJ39113, CDHR13	uc003etn.3	Q9H4D0	OTTHUMG00000160139	ENST00000458420.3:c.2005G>A	3.37:g.140277663G>A	ENSP00000402460:p.Ala669Thr	HNSCC(16;0.037)					p.A669T	NM_022131.2	NP_071414.2	Q9H4D0	CSTN2_HUMAN			12	2195	+			669					B2RCW5|D3DNF4|Q3SX54|Q3ZB76|Q5UE56|Q96HZ2|Q9BSS0	Missense_Mutation	SNP	ENST00000458420.3	37	c.2005G>A	CCDS3112.1	.	.	.	.	.	.	.	.	.	.	G	0.030	-1.341445	0.01277	4.54E-4	0.0	ENSG00000158258	ENST00000458420	T	0.29397	1.57	5.41	2.5	0.30297	.	0.215482	0.46442	N	0.000281	T	0.08802	0.0218	N	0.01219	-0.95	0.23376	N	0.9978	B	0.09022	0.002	B	0.04013	0.001	T	0.33163	-0.9879	9	.	.	.	-0.0386	6.6275	0.22839	0.3845:0.0:0.6155:0.0	.	669	Q9H4D0	CSTN2_HUMAN	T	669	ENSP00000402460:A669T	.	A	+	1	0	CLSTN2	141760353	0.921000	0.31238	0.031000	0.17742	0.075000	0.17131	2.120000	0.41968	0.587000	0.29643	0.650000	0.86243	GCC		0.532	CLSTN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359393.3	NM_022131		10	30	0	0	0	1	0	10	30					A	140277663	G	A	140277663	3	1	84	1	0	0	0	0	1	0	0	0	3562	1087	38	1	2051	1	CLSTN2	3	140277663	Missense_Mutation	SNP	G	TCGA-EJ-7315-01A-31D-2114-08	13528773	140277663	57744767	11	4338											
CHST2	9435	broad.mit.edu	37	chr3	142840957	142840957	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gacctggtgggagaccccgtCaagacactacggagagtgta	11	6	14	10	2	1	3	1	0	0	3	1	6	1	3	3	3	1	1	3	3	3	2			TCGA-EJ-7315-01A-31D-2114-08	TCGA-EJ-7315-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11afac2e-9d8e-455c-8276-8cb5bdce0537	3aaa44ac-302b-430c-b503-d0de1f251a57	g.chr3:142840957C>G	ENST00000309575.3	+	2	2683	c.1299C>G	c.(1297-1299)gtC>gtG	p.V433V		NM_004267.4	NP_004258.2	Q9Y4C5	CHST2_HUMAN	carbohydrate (N-acetylglucosamine-6-O) sulfotransferase 2	433					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|inflammatory response (GO:0006954)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|multicellular organismal development (GO:0007275)|N-acetylglucosamine metabolic process (GO:0006044)|small molecule metabolic process (GO:0044281)|sulfur compound metabolic process (GO:0006790)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|intrinsic component of Golgi membrane (GO:0031228)|trans-Golgi network (GO:0005802)	N-acetylglucosamine 6-O-sulfotransferase activity (GO:0001517)|sulfotransferase activity (GO:0008146)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(2)	22						GAGACCCCGTCAAGACACTAC	0.597																																						ENST00000309575.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(2)	22						c.(1297-1299)gtC>gtG		carbohydrate (N-acetylglucosamine-6-O) sulfotransferase 2							77	71	73					3																	142840957		2203	4300	6503	SO:0001819	synonymous_variant	9435				inflammatory response|multicellular organismal development|N-acetylglucosamine metabolic process|sulfur compound metabolic process	integral to membrane|intrinsic to Golgi membrane|trans-Golgi network	N-acetylglucosamine 6-O-sulfotransferase activity	g.chr3:142840957C>G	BC042160	CCDS3129.1	3q24	2007-03-14			ENSG00000175040	ENSG00000175040		"Sulfotransferases, membrane-bound"	1970	protein-coding gene	gene with protein product		603798				10049591	Standard	NM_004267		Approved	C6ST	uc003evm.3	Q9Y4C5	OTTHUMG00000159351	ENST00000309575.3:c.1299C>G	3.37:g.142840957C>G							p.V433V	NM_004267.4	NP_004258.2	Q9Y4C5	CHST2_HUMAN			2	2683	+			433					D3DNG5|Q2M370|Q9GZN5|Q9UED5|Q9Y6F2	Silent	SNP	ENST00000309575.3	37	c.1299C>G	CCDS3129.1																																																																																				0.597	CHST2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354850.1	NM_004267		9	24	0	0	0	1	0	9	24					G	142840957	C	G	142840957	2	3	84	1	0	0	0	0	0	0	0	1	3404	813	29	5		5	CHST2	3	142840957	Silent	SNP	C	TCGA-EJ-7315-01A-31D-2114-08	2563294	142840957	55181473	12	4339											
HSPA4	3308	broad.mit.edu	37	chr5	132426987	132426987	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggcattttcagtgtgtccaGtgcatctttagtggaggttc	6	16	12	7	0	2	0	1	0	1	0	4	1	3	1	1	3	1	3	1	3	1	5	rs141758444		TCGA-EJ-7315-01A-31D-2114-08	TCGA-EJ-7315-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11afac2e-9d8e-455c-8276-8cb5bdce0537	3aaa44ac-302b-430c-b503-d0de1f251a57	g.chr5:132426987G>A	ENST00000304858.2	+	12	1770	c.1481G>A	c.(1480-1482)aGt>aAt	p.S494N		NM_002154.3	NP_002145.3	P34932	HSP74_HUMAN	heat shock 70kDa protein 4	494					chaperone-mediated protein complex assembly (GO:0051131)|protein import into mitochondrial outer membrane (GO:0045040)|response to unfolded protein (GO:0006986)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(10)|stomach(1)	32			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			AGTGTGTCCAGTGCATCTTTA	0.423																																					Colon(114;1299 1588 6063 12302 48757)	ENST00000304858.2																			0				NS(2)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(10)|stomach(1)	32						c.(1480-1482)aGt>aAt		heat shock 70kDa protein 4		G	ASN/SER	0,4406		0,0,2203	196	189	191		1481	5.1	1	5	dbSNP_134	191	1,8599	1.2+/-3.3	0,1,4299	no	missense	HSPA4	NM_002154.3	46	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	494/841	132426987	1,13005	2203	4300	6503	SO:0001583	missense	3308				cellular chaperone-mediated protein complex assembly|protein import into mitochondrial outer membrane|response to unfolded protein	cytoplasm|nucleus	ATP binding	g.chr5:132426987G>A	AB023420	CCDS4166.1	5q31.1	2011-09-07	2002-08-29		ENSG00000170606	ENSG00000170606		"Heat shock proteins / HSP70"	5237	protein-coding gene	gene with protein product	"hsp70 RY"	601113	"heat shock 70kD protein 4"			8335910	Standard	NM_002154		Approved	HS24/P52, HSPH2	uc003kyj.3	P34932	OTTHUMG00000129012	ENST00000304858.2:c.1481G>A	5.37:g.132426987G>A	ENSP00000302961:p.Ser494Asn						p.S494N	NM_002154.3	NP_002145.3	P34932	HSP74_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		12	1770	+			494					O95756|Q2TAL4|Q9BUK9	Missense_Mutation	SNP	ENST00000304858.2	37	c.1481G>A	CCDS4166.1	.	.	.	.	.	.	.	.	.	.	G	16.93	3.259188	0.59321	0.0	1.16E-4	ENSG00000170606	ENST00000304858	T	0.04502	3.61	5.93	5.07	0.68467	.	0.000000	0.85682	D	0.000000	T	0.07458	0.0188	L	0.52759	1.655	0.80722	D	1	B	0.14438	0.01	B	0.16289	0.015	T	0.09143	-1.0688	10	0.54805	T	0.06	-15.1925	14.9754	0.71267	0.0678:0.0:0.9322:0.0	.	494	P34932	HSP74_HUMAN	N	494	ENSP00000302961:S494N	ENSP00000302961:S494N	S	+	2	0	HSPA4	132454886	1.000000	0.71417	1.000000	0.80357	0.912000	0.54170	7.524000	0.81866	1.529000	0.49120	0.655000	0.94253	AGT		0.423	HSPA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251011.1	NM_002154, NM_198431		17	39	0	0	0	1	0	17	39					A	132426987	G	A	132426987	3	1	84	1	0	0	0	0	1	0	0	0	7412	1029	36	3	1527	3	HSPA4	5	132426987	Missense_Mutation	SNP	G	TCGA-EJ-7315-01A-31D-2114-08		132426987	48488273	13	4340											
PCDHB7	56129	broad.mit.edu	37	chr5	140553994	140553994	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gactacgaggccctgcaggcGttcgagttccgcgtgggcgc	5	7	16	13	6	0	0	0	0	0	0	2	3	1	0	2	3	2	3	2	3	1	3	rs374392843		TCGA-EJ-7315-01A-31D-2114-08	TCGA-EJ-7315-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11afac2e-9d8e-455c-8276-8cb5bdce0537	3aaa44ac-302b-430c-b503-d0de1f251a57	g.chr5:140553994G>T	ENST00000231137.3	+	1	1752	c.1578G>T	c.(1576-1578)gcG>gcT	p.A526A		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN	protocadherin beta 7	526	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.A526A(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCCTGCAGGCGTTCGAGTTCC	0.706													g|||	1	0.000199681	0	0	5008	,	,		16269	0		0.001	False		,,,				2504	0					ENST00000231137.3																			1	Substitution - coding silent(1)	p.A526A(1)	lung(1)	NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						c.(1576-1578)gcG>gcT									62	68	66					5																	140553994		2203	4300	6503	SO:0001819	synonymous_variant	0				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140553994G>T	AF152500	CCDS4249.1	5q31	2010-01-26			ENSG00000113212	ENSG00000113212		"Cadherins / Protocadherins : Clustered"	8692	other	protocadherin		606333				10380929	Standard	NM_018940		Approved	PCDH-BETA7	uc003lit.3	Q9Y5E2	OTTHUMG00000129608	ENST00000231137.3:c.1578G>T	5.37:g.140553994G>T							p.A526A	NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1752	+			526			Cadherin 5.		A1L3Y8	Silent	SNP	ENST00000231137.3	37	c.1578G>T	CCDS4249.1																																																																																				0.706	PCDHB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251803.2	NM_018940		3	83	1	0	6.4e-05	1	7.23478e-05	3	83					T	140553994	G	T	140553994	2	4	84	1	0	0	0	0	0	0	0	1	11547	1132	40	5		5	PCDHB7	5	140553994	Silent	SNP	G	TCGA-EJ-7315-01A-31D-2114-08	8127007	140553994	40361266	14	4341											
ELOVL4	6785	broad.mit.edu	37	chr6	80626371	80626371	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tctgcttttttccattttctAtcatgagttgtttttctgat	5	24	5	7	0	4	2	1	2	3	0	5	2	5	2	1	0	1	3	1	0	1	9			TCGA-EJ-7315-01A-31D-2114-08	TCGA-EJ-7315-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11afac2e-9d8e-455c-8276-8cb5bdce0537	3aaa44ac-302b-430c-b503-d0de1f251a57	g.chr6:80626371A>T	ENST00000369816.4	-	6	1199	c.899T>A	c.(898-900)aTa>aAa	p.I300K		NM_022726.3	NP_073563.1	Q9GZR5	ELOV4_HUMAN	ELOVL fatty acid elongase 4	300					cellular lipid metabolic process (GO:0044255)|detection of visible light (GO:0009584)|fatty acid biosynthetic process (GO:0006633)|fatty acid elongation, saturated fatty acid (GO:0019367)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|very long-chain fatty acid biosynthetic process (GO:0042761)	endoplasmic reticulum (GO:0005783)|integral component of endoplasmic reticulum membrane (GO:0030176)	G-protein coupled photoreceptor activity (GO:0008020)|transferase activity (GO:0016740)			central_nervous_system(2)|cervix(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22		all_cancers(76;1.83e-05)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.011)		BRCA - Breast invasive adenocarcinoma(397;0.0168)	Alpha-Linolenic Acid(DB00132)	TCCATTTTCTATCATGAGTTG	0.358																																						ENST00000369816.4																			0				central_nervous_system(2)|cervix(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						c.(898-900)aTa>aAa		ELOVL fatty acid elongase 4	Alpha-Linolenic Acid(DB00132)						100	89	93					6																	80626371		2203	4300	6503	SO:0001583	missense	6785				fatty acid elongation, saturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process	integral to endoplasmic reticulum membrane	G-protein coupled photoreceptor activity|protein binding|transferase activity, transferring acyl groups other than amino-acyl groups	g.chr6:80626371A>T	AF277094	CCDS4992.1	6q14	2013-01-08	2011-05-25		ENSG00000118402	ENSG00000118402			14415	protein-coding gene	gene with protein product	"cancer/testis antigen 118"	605512	"elongation of very long chain fatty acids (FEN1/Elo2, SUR4/Elo3, yeast)-like 4"	STGD2, STGD3		11138005	Standard	NM_022726		Approved	CT118	uc003pja.4	Q9GZR5	OTTHUMG00000015087	ENST00000369816.4:c.899T>A	6.37:g.80626371A>T	ENSP00000358831:p.Ile300Lys						p.I300K	NM_022726.3	NP_073563.1	Q9GZR5	ELOV4_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.0168)	6	1199	-		all_cancers(76;1.83e-05)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.011)	300					B2R6B5|Q5TCS2|Q86YJ1|Q9H139	Missense_Mutation	SNP	ENST00000369816.4	37	c.899T>A	CCDS4992.1	.	.	.	.	.	.	.	.	.	.	A	4.970	0.180109	0.09443	.	.	ENSG00000118402	ENST00000369816	T	0.16897	2.31	5.61	5.61	0.85477	.	1.061440	0.07071	N	0.835499	T	0.03053	0.0090	N	0.08118	0	0.42457	D	0.992776	B	0.02656	0.0	B	0.01281	0.0	T	0.38329	-0.9666	10	0.08179	T	0.78	-1.9197	10.2731	0.43493	0.8527:0.0:0.0:0.1472	.	300	Q9GZR5	ELOV4_HUMAN	K	300	ENSP00000358831:I300K	ENSP00000358831:I300K	I	-	2	0	ELOVL4	80683090	0.936000	0.31750	0.649000	0.29536	0.207000	0.24258	3.173000	0.50839	2.136000	0.66102	0.455000	0.32223	ATA		0.358	ELOVL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041315.1			18	39	0	0	0	1	0	18	39					T	80626371	A	T	80626371	3	4	84	1	0	0	0	0	1	0	0	0	5076	449	16	5	49	5	ELOVL4	6	80626371	Missense_Mutation	SNP	A	TCGA-EJ-7315-01A-31D-2114-08		80626371	90488696	15	4342											
MTFR1	9650	broad.mit.edu	37	chr8	66619312	66619312	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcccccaccgcccctgccTccccctgcactggggctcca	3	6	7	25	1	0	0	0	0	0	0	3	0	3	0	10	2	2	2	10	2	0	0			TCGA-EJ-7315-01A-31D-2114-08	TCGA-EJ-7315-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11afac2e-9d8e-455c-8276-8cb5bdce0537	35f9f6e3-a269-4b6d-a218-677ab3905fa8	g.chr8:66619312T>C	ENST00000262146.4	+	6	711	c.585T>C	c.(583-585)ccT>ccC	p.P195P	MTFR1_ENST00000517944.1_3'UTR|MTFR1_ENST00000458689.2_Silent_p.P162P	NM_014637.3	NP_055452.3	Q15390	MTFR1_HUMAN	mitochondrial fission regulator 1	195	Necessary and sufficient to promote mitochondrial fission. {ECO:0000250}.|Pro-rich.				aerobic respiration (GO:0009060)|mitochondrial fission (GO:0000266)|mitochondrion organization (GO:0007005)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)				cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(1)|pancreas(1)|urinary_tract(1)	11			Epithelial(68;0.0526)|BRCA - Breast invasive adenocarcinoma(89;0.156)|all cancers(69;0.171)|OV - Ovarian serous cystadenocarcinoma(28;0.194)			CGCCCCTGCCTCCCCCTGCAC	0.478																																						ENST00000262146.4																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(1)|pancreas(1)|urinary_tract(1)	11						c.(583-585)ccT>ccC		mitochondrial fission regulator 1							33	37	35					8																	66619312		2200	4298	6498	SO:0001819	synonymous_variant	9650					mitochondrion|plasma membrane		g.chr8:66619312T>C		CCDS6182.1, CCDS55240.1	8q13.1	2012-11-30							29510	protein-coding gene	gene with protein product	"likely ortholog of chicken chondrocyte protein with a poly proline region"					7584026, 7584028, 15389597	Standard	NM_014637		Approved	CHPPR, KIAA0009, FAM54A2	uc003xvn.2	Q15390		ENST00000262146.4:c.585T>C	8.37:g.66619312T>C						MTFR1_ENST00000517944.1_3'UTR|MTFR1_ENST00000458689.2_Silent_p.P162P	p.P195P	NM_014637.3	NP_055452.3	Q15390	MTFR1_HUMAN	Epithelial(68;0.0526)|BRCA - Breast invasive adenocarcinoma(89;0.156)|all cancers(69;0.171)|OV - Ovarian serous cystadenocarcinoma(28;0.194)		6	711	+			195			Pro-rich.		E7EP84|Q6IB94|Q7Z669|Q86XH5|Q8IVD7	Silent	SNP	ENST00000262146.4	37	c.585T>C	CCDS6182.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	6.427|6.427	0.446826|0.446826	0.12223|0.12223	.|.	.|.	ENSG00000066855|ENSG00000066855	ENST00000518800|ENST00000527155	.|.	.|.	.|.	5.49|5.49	-10.8|-10.8	0.00216|0.00216	.|.	.|.	.|.	.|.	.|.	T|T	0.34542|0.34542	0.0901|0.0901	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.42766|0.42766	-0.9432|-0.9432	4|4	.|.	.|.	.|.	0.4853|0.4853	3.8979|3.8979	0.09147|0.09147	0.5143:0.099:0.0719:0.3148|0.5143:0.099:0.0719:0.3148	.|.	.|.	.|.	.|.	P|P	153|9	.|.	.|.	L|S	+|+	2|1	0|0	MTFR1|MTFR1	66781866|66781866	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.007000|0.007000	0.05969|0.05969	-1.945000|-1.945000	0.01537|0.01537	-2.012000|-2.012000	0.00950|0.00950	0.528000|0.528000	0.53228|0.53228	CTC|TCC		0.478	MTFR1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378894.1	NM_014637		3	103	0	0	0	1	0	3	103					C	66619312	T	C	66619312	2	2	84	1	0	0	0	0	0	0	0	1	9925	1538	54	4		4	MTFR1	8	66619312	Silent	SNP	T	TCGA-EJ-7315-01A-31D-2114-08		66619312	79744710	16	4343											
TRHR	7201	broad.mit.edu	37	chr8	110131650	110131650	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agtgtcttttgatgacacctGcttggcttctgaggtatcct	6	16	10	9	0	2	3	0	3	2	0	3	3	3	3	2	2	1	3	2	2	1	5			TCGA-EJ-7315-01A-31D-2114-08	TCGA-EJ-7315-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11afac2e-9d8e-455c-8276-8cb5bdce0537	3aaa44ac-302b-430c-b503-d0de1f251a57	g.chr8:110131650G>T	ENST00000518632.1	+	3	1514	c.1163G>T	c.(1162-1164)tGc>tTc	p.C388F	TRHR_ENST00000311762.2_Missense_Mutation_p.C388F			P34981	TRFR_HUMAN	thyrotropin-releasing hormone receptor	388					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	thyrotropin-releasing hormone receptor activity (GO:0004997)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(12)|prostate(4)|skin(4)|urinary_tract(1)	37			OV - Ovarian serous cystadenocarcinoma(57;2.3e-11)			GATGACACCTGCTTGGCTTCT	0.413																																						ENST00000518632.1																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(12)|prostate(4)|skin(4)|urinary_tract(1)	37						c.(1162-1164)tGc>tTc		thyrotropin-releasing hormone receptor							80	77	78					8																	110131650		2203	4299	6502	SO:0001583	missense	7201					integral to plasma membrane	thyrotropin-releasing hormone receptor activity	g.chr8:110131650G>T		CCDS6311.1	8q23.1	2013-09-20			ENSG00000174417	ENSG00000174417			12299	protein-coding gene	gene with protein product		188545				8128317	Standard	NM_003301		Approved		uc003ymz.4	P34981	OTTHUMG00000164910	ENST00000518632.1:c.1163G>T	8.37:g.110131650G>T	ENSP00000430711:p.Cys388Phe					TRHR_ENST00000311762.2_Missense_Mutation_p.C388F	p.C388F			P34981	TRFR_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;2.3e-11)		3	1514	+			388					Q2M339	Missense_Mutation	SNP	ENST00000518632.1	37	c.1163G>T	CCDS6311.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.090976	0.76756	.	.	ENSG00000174417	ENST00000518632;ENST00000311762	T;T	0.66460	-0.21;-0.21	5.56	5.56	0.83823	.	0.148996	0.64402	D	0.000004	T	0.71962	0.3402	M	0.63843	1.955	0.80722	D	1	P	0.51653	0.947	P	0.47744	0.556	T	0.74182	-0.3748	10	0.54805	T	0.06	-30.6171	18.8862	0.92379	0.0:0.0:1.0:0.0	.	388	P34981	TRFR_HUMAN	F	388	ENSP00000430711:C388F;ENSP00000309818:C388F	ENSP00000309818:C388F	C	+	2	0	TRHR	110200826	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.039000	0.93777	2.780000	0.95670	0.585000	0.79938	TGC		0.413	TRHR-002	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380892.1			14	60	1	0	6.31663e-08	1	7.63871e-08	14	60					T	110131650	G	T	110131650	3	4	84	1	0	0	0	0	1	0	0	0	16477	1319	46	5	1169	5	TRHR	8	110131650	Missense_Mutation	SNP	G	TCGA-EJ-7315-01A-31D-2114-08	43512338	110131650	36232372	17	4344											
EFR3A	23167	broad.mit.edu	37	chr8	132999828	132999828	+	Frame_Shift_Del	DEL	A	A	-																															gatgaacttcgcaggcttccAaaatctttagagaagcatga																										TCGA-EJ-7315-01A-31D-2114-08	TCGA-EJ-7315-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11afac2e-9d8e-455c-8276-8cb5bdce0537	3aaa44ac-302b-430c-b503-d0de1f251a57	g.chr8:132999828delA	ENST00000254624.5	+	18	2169	c.1944delA	c.(1942-1944)ccafs	p.P648fs	EFR3A_ENST00000519656.1_Frame_Shift_Del_p.P612fs|EFR3A_ENST00000334503.4_Frame_Shift_Del_p.P648fs	NM_015137.4	NP_055952.2	Q14156	EFR3A_HUMAN	EFR3 homolog A (S. cerevisiae)	648						extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|skin(1)|stomach(2)	35	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000805)|LUAD - Lung adenocarcinoma(14;0.102)			GCAGGCTTCCAAAATCTTTAG	0.358																																						ENST00000254624.5																			0				breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|skin(1)|stomach(2)	35						c.(1942-1944)ccfs		EFR3 homolog A (S. cerevisiae)							58	52	54					8																	132999828		2202	4300	6502	SO:0001589	frameshift_variant	23167					plasma membrane	binding	g.chr8:132999828delA	D63477	CCDS34942.2	8q24.22	2008-10-23			ENSG00000132294	ENSG00000132294			28970	protein-coding gene	gene with protein product		611798				15363888	Standard	NM_015137		Approved	KIAA0143	uc003yte.3	Q14156	OTTHUMG00000150552	ENST00000254624.5:c.1944delA	8.37:g.132999828delA	ENSP00000254624:p.Pro648fs					EFR3A_ENST00000334503.4_Frame_Shift_Del_p.P648fs|EFR3A_ENST00000519656.1_Frame_Shift_Del_p.P612fs	p.P648fs	NM_015137.4	NP_055952.2	Q14156	EFR3A_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000805)|LUAD - Lung adenocarcinoma(14;0.102)		18	2169	+	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		648					A7MD19|Q2VPK2|Q63HL7|Q68DX1|Q6IQ18	Frame_Shift_Del	DEL	ENST00000254624.5	37	c.1944delA	CCDS34942.2																																																																																				0.358	EFR3A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318886.1	NM_015137		2	4						2	4	---	---	---	---	-	132999828	A	-	132999828	7	5	84	1	0	1	0	1	0	0	0	0	4958	117	5	0	2014	0	EFR3A	8	132999828	Frame_Shift_Del	DEL	A	TCGA-EJ-7315-01A-31D-2114-08	22868178	132999828	13364194	18	4345											
CREB3	57704	broad.mit.edu	37	chr9	35736505	35736506	+	IGR	DEL	TG	TG	-																															agtggttggacggctcagacTgtgtactccaggcccctggc																										TCGA-EJ-7315-01A-31D-2114-08	TCGA-EJ-7315-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11afac2e-9d8e-455c-8276-8cb5bdce0537	3aaa44ac-302b-430c-b503-d0de1f251a57	g.chr9:35736505_35736506delTG	ENST00000378103.3	-	0	3611				CREB3_ENST00000486056.1_3'UTR|CREB3_ENST00000353704.2_Frame_Shift_Del_p.C300fs|GBA2_ENST00000467252.1_5'Flank	NM_020944.2	NP_065995.1	Q9HCG7	GBA2_HUMAN	glucosidase, beta (bile acid) 2						bile acid metabolic process (GO:0008206)|cell death (GO:0008219)|central nervous system neuron development (GO:0021954)|glucosylceramide catabolic process (GO:0006680)|glycoside catabolic process (GO:0016139)|glycosphingolipid metabolic process (GO:0006687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|smooth endoplasmic reticulum (GO:0005790)	beta-glucosidase activity (GO:0008422)|glucosylceramidase activity (GO:0004348)			NS(1)|kidney(3)|large_intestine(5)|lung(5)|ovary(4)|skin(3)	21	all_epithelial(49;0.167)		Lung(28;0.00416)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			CGGCTCAGACTGTGTACTCCAG	0.614											OREG0019176	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000353704.2																			0				endometrium(1)|kidney(2)|large_intestine(3)|lung(2)|urinary_tract(1)	9						c.(898-900)tfs		cAMP responsive element binding protein 3																																				SO:0001628	intergenic_variant	10488				chemotaxis|induction of positive chemotaxis|interspecies interaction between organisms|negative regulation of cell cycle|positive regulation of calcium ion transport|positive regulation of cell migration|positive regulation of transcription, DNA-dependent|reactivation of latent virus|regulation of cell proliferation	cytosol|endoplasmic reticulum|endoplasmic reticulum membrane|Golgi apparatus|integral to membrane|nucleus	cAMP response element binding protein binding|CCR1 chemokine receptor binding|DNA binding|protein dimerization activity|protein homodimerization activity|sequence-specific DNA binding transcription factor activity	g.chr9:35736505_35736506delTG	AJ309567	CCDS6589.1	9p13.2	2013-09-11			ENSG00000070610	ENSG00000070610			18986	protein-coding gene	gene with protein product	"bile acid beta-glucosidase", "non-lysosomal glucosylceramidase"	609471	"spastic paraplegia 46 (autosomal recessive)"	SPG46		11489889, 23332916, 23332917	Standard	NM_020944		Approved	KIAA1605, AD035, DKFZp762K054	uc003zxw.3	Q9HCG7	OTTHUMG00000021024		9.37:g.35736507_35736508delTG			OREG0019176	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	857	CREB3_ENST00000486056.1_3'UTR	p.C300fs	NM_006368.4	NP_006359.3	O43889	CREB3_HUMAN	Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)	GBM - Glioblastoma multiforme(74;0.0285)	9	1336_1337	+	all_epithelial(49;0.167)		324					D3DRP2|Q5TCV6|Q96A51|Q96LY1|Q96SJ2|Q9H2L8	Frame_Shift_Del	DEL	ENST00000378103.3	37	c.898_899delTG	CCDS6589.1																																																																																				0.614	GBA2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000055456.1	NM_020944		10	129						10	129	---	---	---	---	-	35736506	TG	-	35736505	6	5	84	0	1	1	0	1	0	0	0	0	3855	1580	55	0		0	CREB3	9	35736505	IGR	DEL	TG	TCGA-EJ-7315-01A-31D-2114-08		35736505	105476926	19	4346											
TMEM26	219623	broad.mit.edu	37	chr10	63170373	63170373	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ataggtcatcagtatgagacGcacgacaaggaaggggccat	14	6	13	8	2	2	1	2	1	0	1	2	4	2	2	1	4	0	2	1	4	4	2	rs527927252		TCGA-EJ-7315-01A-31D-2114-08	TCGA-EJ-7315-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11afac2e-9d8e-455c-8276-8cb5bdce0537	3aaa44ac-302b-430c-b503-d0de1f251a57	g.chr10:63170373G>A	ENST00000399298.3	-	6	1182	c.814C>T	c.(814-816)Cgt>Tgt	p.R272C	TMEM26_ENST00000507507.1_5'UTR	NM_178505.6	NP_848600.2	Q6ZUK4	TMM26_HUMAN	transmembrane protein 26	272						integral component of membrane (GO:0016021)				kidney(1)|large_intestine(2)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	18	Prostate(12;0.0112)					AGTATGAGACGCACGACAAGG	0.502																																						ENST00000399298.3																			0				kidney(1)|large_intestine(2)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	18						c.(814-816)Cgt>Tgt		transmembrane protein 26							80	86	84					10																	63170373		2118	4225	6343	SO:0001583	missense	219623					integral to membrane		g.chr10:63170373G>A	BC042872	CCDS41530.1	10q21.3	2008-10-20			ENSG00000196932	ENSG00000196932			28550	protein-coding gene	gene with protein product						12477932	Standard	NM_178505		Approved	MGC35010, Em:AC068892.1	uc001jlo.2	Q6ZUK4	OTTHUMG00000018293	ENST00000399298.3:c.814C>T	10.37:g.63170373G>A	ENSP00000382237:p.Arg272Cys					TMEM26_ENST00000507507.1_5'UTR	p.R272C	NM_178505.6	NP_848600.2	Q6ZUK4	TMM26_HUMAN			6	1182	-	Prostate(12;0.0112)		272					Q6ZVM0|Q8IVN9	Missense_Mutation	SNP	ENST00000399298.3	37	c.814C>T	CCDS41530.1	.	.	.	.	.	.	.	.	.	.	G	18.23	3.576956	0.65878	.	.	ENSG00000196932	ENST00000399298	.	.	.	5.95	5.04	0.67666	.	0.163432	0.52532	D	0.000073	T	0.80808	0.4694	M	0.85630	2.765	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.84215	0.0458	9	0.87932	D	0	-3.6073	14.1483	0.65364	0.0:0.0:0.7269:0.2731	.	272	Q6ZUK4	TMM26_HUMAN	C	272	.	ENSP00000382237:R272C	R	-	1	0	TMEM26	62840379	1.000000	0.71417	0.749000	0.31150	0.657000	0.38888	2.800000	0.47900	1.504000	0.48704	0.655000	0.94253	CGT		0.502	TMEM26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359121.1	NM_178505		4	46	0	0	0	1	0	4	46					A	63170373	G	A	63170373	3	1	84	1	0	0	0	0	1	0	0	0	16148	1087	38	1	296	1	TMEM26	10	63170373	Missense_Mutation	SNP	G	TCGA-EJ-7315-01A-31D-2114-08		63170373	72364374	20	4347											
NLRP10	338322	broad.mit.edu	37	chr11	7981685	7981685	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagcctttgcacttctctgcGggactccttccccagccggc	4	10	9	18	2	1	0	0	0	1	0	4	1	3	1	5	2	4	1	5	2	0	3			TCGA-EJ-7315-01A-31D-2114-08	TCGA-EJ-7315-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11afac2e-9d8e-455c-8276-8cb5bdce0537	3aaa44ac-302b-430c-b503-d0de1f251a57	g.chr11:7981685G>A	ENST00000328600.2	-	2	1635	c.1474C>T	c.(1474-1476)Cgc>Tgc	p.R492C		NM_176821.3	NP_789791.1	Q86W26	NAL10_HUMAN	NLR family, pyrin domain containing 10	492					defense response to fungus (GO:0050832)|defense response to Gram-negative bacterium (GO:0050829)|dendritic cell migration (GO:0036336)|helper T cell enhancement of adaptive immune response (GO:0035397)|innate immune response (GO:0045087)|positive regulation of interleukin-6 secretion (GO:2000778)|positive regulation of interleukin-8 secretion (GO:2000484)|positive regulation of T-helper 1 type immune response (GO:0002827)|positive regulation of T-helper 17 type immune response (GO:2000318)	cytoplasm (GO:0005737)|extrinsic component of plasma membrane (GO:0019897)	ATP binding (GO:0005524)	p.R492C(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		ACTTCTCTGCGGGACTCCTTC	0.498																																						ENST00000328600.2																			1	Substitution - Missense(1)	p.R492C(1)	lung(1)	breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						c.(1474-1476)Cgc>Tgc		NLR family, pyrin domain containing 10							90	92	91					11																	7981685		2201	4296	6497	SO:0001583	missense	338322						ATP binding	g.chr11:7981685G>A	AY154465	CCDS7784.1	11p15.4	2006-12-08	2006-12-08	2006-12-08		ENSG00000182261		"Nucleotide-binding domain and leucine rich repeat containing"	21464	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 10"	609662	"NACHT, leucine rich repeat and PYD containing 10"	NALP10		12563287	Standard	NM_176821		Approved	NOD8, PAN5, Pynod, CLR11.1	uc001mfv.1	Q86W26		ENST00000328600.2:c.1474C>T	11.37:g.7981685G>A	ENSP00000327763:p.Arg492Cys						p.R492C	NM_176821.3	NP_789791.1	Q86W26	NAL10_HUMAN		Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)	2	1635	-			492					Q2M3C4|Q6JGT0	Missense_Mutation	SNP	ENST00000328600.2	37	c.1474C>T	CCDS7784.1	.	.	.	.	.	.	.	.	.	.	G	10.52	1.372879	0.24857	.	.	ENSG00000182261	ENST00000328600	T	0.80653	-1.4	4.48	-6.22	0.02058	.	1.125910	0.06877	N	0.801783	T	0.60560	0.2278	N	0.22421	0.69	0.09310	N	1	B	0.14012	0.009	B	0.08055	0.003	T	0.45381	-0.9265	10	0.46703	T	0.11	.	2.0871	0.03648	0.4675:0.2416:0.1688:0.122	.	492	Q86W26	NAL10_HUMAN	C	492	ENSP00000327763:R492C	ENSP00000327763:R492C	R	-	1	0	NLRP10	7938261	0.000000	0.05858	0.000000	0.03702	0.205000	0.24178	-1.256000	0.02869	-0.804000	0.04410	-1.129000	0.01985	CGC		0.498	NLRP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385705.1	NM_176821		31	60	0	0	0	1	0	31	60					A	7981685	G	A	7981685	3	1	84	1	0	0	0	0	1	0	0	0	10472	1116	39	2	497	2	NLRP10	11	7981685	Missense_Mutation	SNP	G	TCGA-EJ-7315-01A-31D-2114-08		7981685	127024831	21	4348											
ABCG4	64137	broad.mit.edu	37	chr11	119027721	119027721	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccccatgccctccttgtccTccggtgagtaggggtggaga	5	9	14	13	1	0	2	0	1	0	1	3	3	3	2	6	4	1	1	6	4	1	2			TCGA-EJ-7315-01A-31D-2114-08	TCGA-EJ-7315-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11afac2e-9d8e-455c-8276-8cb5bdce0537	3aaa44ac-302b-430c-b503-d0de1f251a57	g.chr11:119027721T>C	ENST00000449422.2	+	9	1253	c.1065T>C	c.(1063-1065)ccT>ccC	p.P355P	ABCG4_ENST00000307417.3_Silent_p.P355P|AP002956.1_ENST00000599663.1_Intron|ABCG4_ENST00000531739.1_Silent_p.P355P	NM_001142505.1	NP_001135977.1	Q9H172	ABCG4_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 4	355					cholesterol efflux (GO:0033344)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|cholesterol transporter activity (GO:0017127)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(28)|ovary(2)|prostate(1)|skin(1)	44	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)		CTCCTTGTCCTCCGGTGAGTA	0.607																																						ENST00000307417.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(28)|ovary(2)|prostate(1)|skin(1)	44						c.(1063-1065)ccT>ccC		ATP-binding cassette, sub-family G (WHITE), member 4							115	106	109					11																	119027721		2200	4295	6495	SO:0001819	synonymous_variant	64137				cholesterol efflux	integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity|protein homodimerization activity	g.chr11:119027721T>C	AJ300465	CCDS8415.1	11q23	2012-03-14			ENSG00000172350	ENSG00000172350		"ATP binding cassette transporters / subfamily G"	13884	protein-coding gene	gene with protein product	"putative ABC transporter", "ATP-binding cassette, subfamily G, member 4"	607784				11435397	Standard	NM_022169		Approved	WHITE2	uc001pvs.3	Q9H172	OTTHUMG00000166169	ENST00000449422.2:c.1065T>C	11.37:g.119027721T>C						ABCG4_ENST00000531739.1_Silent_p.P355P|AP002956.1_ENST00000599663.1_Intron|ABCG4_ENST00000449422.2_Silent_p.P355P	p.P355P	NM_022169.4	NP_071452.2	Q9H172	ABCG4_HUMAN		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)	9	1429	+	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)	355					A8K1B5|Q8WWH0|Q8WWH1|Q8WWH2	Silent	SNP	ENST00000449422.2	37	c.1065T>C	CCDS8415.1																																																																																				0.607	ABCG4-002	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388215.1	NM_022169		3	107	0	0	0	1	0	3	107					C	119027721	T	C	119027721	2	2	84	1	0	0	0	0	0	0	0	1	70	1538	54	4		4	ABCG4	11	119027721	Silent	SNP	T	TCGA-EJ-7315-01A-31D-2114-08	111046036	119027721	15978795	22	4349											
NECAP1	25977	broad.mit.edu	37	chr12	8242592	8242592	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cgcctccgaatcacttcaaaAgggaagactgcctatatcaa	14	8	7	12	2	3	1	3	0	0	1	4	3	4	2	3	1	1	0	3	1	7	3			TCGA-EJ-7315-01A-31D-2114-08	TCGA-EJ-7315-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11afac2e-9d8e-455c-8276-8cb5bdce0537	3aaa44ac-302b-430c-b503-d0de1f251a57	g.chr12:8242592A>G	ENST00000339754.5	+	2	234	c.156A>G	c.(154-156)aaA>aaG	p.K52K		NM_015509.3	NP_056324.2	Q8NC96	NECP1_HUMAN	NECAP endocytosis associated 1	52					endocytosis (GO:0006897)|protein transport (GO:0015031)	clathrin vesicle coat (GO:0030125)|coated pit (GO:0005905)|plasma membrane (GO:0005886)				cervix(1)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10				Kidney(36;0.0915)		TCACTTCAAAAGGGAAGACTG	0.438																																						ENST00000339754.5																			0				cervix(1)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10						c.(154-156)aaA>aaG		NECAP endocytosis associated 1							109	114	112					12																	8242592		2203	4300	6503	SO:0001819	synonymous_variant	25977				endocytosis|protein transport	clathrin coated vesicle membrane|plasma membrane		g.chr12:8242592A>G	AK074923	CCDS8589.1	12p13.31	2012-05-02			ENSG00000089818	ENSG00000089818			24539	protein-coding gene	gene with protein product		611623				14555962, 15494011	Standard	NM_015509		Approved	DKFZP566B183	uc001qtx.2	Q8NC96	OTTHUMG00000168568	ENST00000339754.5:c.156A>G	12.37:g.8242592A>G							p.K52K	NM_015509.3	NP_056324.2	Q8NC96	NECP1_HUMAN		Kidney(36;0.0915)	2	234	+			52					Q2NL73|Q5XG95|Q6NWY6|Q8N153|Q8NCB0|Q9BU52|Q9Y407	Silent	SNP	ENST00000339754.5	37	c.156A>G	CCDS8589.1																																																																																				0.438	NECAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400244.1	NM_015509		3	124	0	0	0	1	0	3	124					G	8242592	A	G	8242592	2	3	84	1	0	0	0	0	0	0	0	1	10307	69	3	4		4	NECAP1	12	8242592	Silent	SNP	A	TCGA-EJ-7315-01A-31D-2114-08		8242592	125609303	23	4350											
ZBTB39	9880	broad.mit.edu	37	chr12	57397205	57397205	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gagatgccgagatgggacagCgtgtgccacatgaggctgca	10	6	16	9	2	0	3	0	1	0	2	0	6	0	4	2	2	4	2	2	2	0	0			TCGA-EJ-7315-01A-31D-2114-08	TCGA-EJ-7315-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11afac2e-9d8e-455c-8276-8cb5bdce0537	3aaa44ac-302b-430c-b503-d0de1f251a57	g.chr12:57397205C>T	ENST00000300101.2	-	2	1582	c.1497G>A	c.(1495-1497)acG>acA	p.T499T		NM_014830.2	NP_055645.1	O15060	ZBT39_HUMAN	zinc finger and BTB domain containing 39	499					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|liver(1)|lung(3)|prostate(1)	16						GATGGGACAGCGTGTGCCACA	0.557																																						ENST00000300101.2																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|liver(1)|lung(3)|prostate(1)	16						c.(1495-1497)acG>acA		zinc finger and BTB domain containing 39							62	52	56					12																	57397205		2203	4300	6503	SO:0001819	synonymous_variant	9880				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr12:57397205C>T	AB002350	CCDS31839.1	12q13.3	2013-01-09				ENSG00000166860		"-", "BTB/POZ domain containing", "Zinc fingers, C2H2-type"	29014	protein-coding gene	gene with protein product						9205841	Standard	NM_014830		Approved	KIAA0352, ZNF922	uc001sml.2	O15060		ENST00000300101.2:c.1497G>A	12.37:g.57397205C>T							p.T499T	NM_014830.2	NP_055645.1	O15060	ZBT39_HUMAN			2	1582	-			499					A7MD38|Q9UD98	Silent	SNP	ENST00000300101.2	37	c.1497G>A	CCDS31839.1																																																																																				0.557	ZBTB39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411214.1	NM_014830		3	14	0	0	0	1	0	3	14					T	57397205	C	T	57397205	2	4	84	1	0	0	0	0	0	0	0	1	17537	755	27	1		1	ZBTB39	12	57397205	Silent	SNP	C	TCGA-EJ-7315-01A-31D-2114-08	49154613	57397205	76454690	24	4351											
FAH	2184	broad.mit.edu	37	chr15	80472567	80472567	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tctgggaccatcagcgggccGgtgagtatctggctgcactg	6	9	15	11	2	3	1	1	1	2	0	3	2	3	2	2	4	2	3	2	4	1	1			TCGA-EJ-7315-01A-31D-2114-08	TCGA-EJ-7315-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11afac2e-9d8e-455c-8276-8cb5bdce0537	3aaa44ac-302b-430c-b503-d0de1f251a57	g.chr15:80472567G>A	ENST00000407106.1	+	13	1217	c.1062G>A	c.(1060-1062)ccG>ccA	p.P354P	FAH_ENST00000261755.5_Splice_Site_p.P354P|FAH_ENST00000539156.1_Splice_Site_p.P284P|FAH_ENST00000561421.1_Splice_Site_p.P354P			P16930	FAAA_HUMAN	fumarylacetoacetate hydrolase (fumarylacetoacetase)	354					arginine catabolic process (GO:0006527)|cellular nitrogen compound metabolic process (GO:0034641)|L-phenylalanine catabolic process (GO:0006559)|small molecule metabolic process (GO:0044281)|tyrosine catabolic process (GO:0006572)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	fumarylacetoacetase activity (GO:0004334)|metal ion binding (GO:0046872)			endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						TCAGCGGGCCGGTGAGTATCT	0.637									Tyrosinemia, type 1																													ENST00000539156.1																			0				endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.e11+1		fumarylacetoacetate hydrolase (fumarylacetoacetase)							31	31	31					15																	80472567		2203	4300	6503	SO:0001630	splice_region_variant	2184	Tyrosinemia, type 1	Familial Cancer Database	Fumarylacetoacetase Deficiency, Hepatorenal Tyrosinemia, Hereditary Tyrosinemia 1, HT1	L-phenylalanine catabolic process|tyrosine catabolic process	cytosol	fumarylacetoacetase activity|metal ion binding	g.chr15:80472567G>A	M55150	CCDS10314.1	15q25.1	2012-08-30			ENSG00000103876	ENSG00000103876	3.7.1.2		3579	protein-coding gene	gene with protein product		613871				1998338, 2336361	Standard	NM_000137		Approved		uc002bfm.2	P16930	OTTHUMG00000144187	ENST00000407106.1:c.1062+1G>A	15.37:g.80472567G>A						FAH_ENST00000261755.5_Splice_Site_p.P354_splice|FAH_ENST00000407106.1_Splice_Site_p.P354_splice|FAH_ENST00000561421.1_Splice_Site_p.P354_splice	p.P284_splice			P16930	FAAA_HUMAN			11	3090	+			354					B2R9X1|D3DW95|Q53XA7	Splice_Site	SNP	ENST00000407106.1	37	c.852_splice	CCDS10314.1																																																																																				0.637	FAH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000291392.2		Silent	3	39	0	0	0	1	0	3	39					A	80472567	G	A	80472567	5	1	84	1	0	0	0	0	0	0	1	0	5371	1130	39	2	1108	2	FAH	15	80472567	Splice_Site	SNP	G	TCGA-EJ-7315-01A-31D-2114-08		80472567	22058825	25	4352											
GTF3C1	2975	broad.mit.edu	37	chr16	27506671	27506671	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctgcctgactcctgctttatCgttctccgttcactgatgaa	6	15	7	13	2	2	3	1	3	1	0	5	3	3	3	3	0	2	3	3	0	2	4			TCGA-EJ-7315-01A-31D-2114-08	TCGA-EJ-7315-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11afac2e-9d8e-455c-8276-8cb5bdce0537	3aaa44ac-302b-430c-b503-d0de1f251a57	g.chr16:27506671C>T	ENST00000356183.4	-	15	2508	c.2493G>A	c.(2491-2493)acG>acA	p.T831T	GTF3C1_ENST00000561623.1_Silent_p.T831T	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide 1, alpha 220kDa	831					5S class rRNA transcription from RNA polymerase III type 1 promoter (GO:0042791)|gene expression (GO:0010467)|rRNA transcription (GO:0009303)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)|tRNA transcription (GO:0009304)|tRNA transcription from RNA polymerase III promoter (GO:0042797)	membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|transcription factor TFIIIC complex (GO:0000127)	DNA binding (GO:0003677)			breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						CCTGCTTTATCGTTCTCCGTT	0.602																																						ENST00000356183.4																			0				breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						c.(2491-2493)acG>acA		general transcription factor IIIC, polypeptide 1, alpha 220kDa							59	50	53					16																	27506671		2197	4300	6497	SO:0001819	synonymous_variant	2975					transcription factor TFIIIC complex	DNA binding|protein binding	g.chr16:27506671C>T	U06485	CCDS32414.1, CCDS66988.1	16p12	2010-03-23	2002-08-29			ENSG00000077235		"General transcription factors"	4664	protein-coding gene	gene with protein product		603246	"general transcription factor IIIC, polypeptide 1 (alpha subunit, 220kD )"			8164661, 8127861	Standard	NM_001520		Approved	TFIIIC220	uc002dov.2	Q12789		ENST00000356183.4:c.2493G>A	16.37:g.27506671C>T						GTF3C1_ENST00000561623.1_Silent_p.T831T	p.T831T	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN			15	2508	-			831					B2RP21|Q12838|Q6DKN9|Q9Y4W9	Silent	SNP	ENST00000356183.4	37	c.2493G>A	CCDS32414.1																																																																																				0.602	GTF3C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433856.1	NM_001520		5	45	0	0	0	1	0	5	45					T	27506671	C	T	27506671	2	4	84	1	0	0	0	0	0	0	0	1	6872	871	31	2		2	GTF3C1	16	27506671	Silent	SNP	C	TCGA-EJ-7315-01A-31D-2114-08		27506671	62848082	26	4353											
SALL1	6299	broad.mit.edu	37	chr16	51175105	51175105	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tggtaactgccgctgccaatAtgttcatattgggagaagag	11	11	12	7	1	1	2	1	0	0	2	1	3	1	2	2	2	3	3	2	2	5	5			TCGA-EJ-7315-01A-31D-2114-08	TCGA-EJ-7315-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11afac2e-9d8e-455c-8276-8cb5bdce0537	3aaa44ac-302b-430c-b503-d0de1f251a57	g.chr16:51175105A>G	ENST00000251020.4	-	2	1061	c.1028T>C	c.(1027-1029)aTa>aCa	p.I343T	SALL1_ENST00000566102.1_Intron|SALL1_ENST00000440970.1_Missense_Mutation_p.I246T|SALL1_ENST00000541611.1_Intron|SALL1_ENST00000562674.1_5'Flank	NM_002968.2	NP_002959.2	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	343					adrenal gland development (GO:0030325)|branching involved in ureteric bud morphogenesis (GO:0001658)|embryonic digestive tract development (GO:0048566)|embryonic digit morphogenesis (GO:0042733)|forelimb morphogenesis (GO:0035136)|gonad development (GO:0008406)|heart development (GO:0007507)|hindlimb morphogenesis (GO:0035137)|histone deacetylation (GO:0016575)|inductive cell-cell signaling (GO:0031129)|kidney development (GO:0001822)|kidney epithelium development (GO:0072073)|limb development (GO:0060173)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|olfactory bulb interneuron differentiation (GO:0021889)|olfactory bulb mitral cell layer development (GO:0061034)|olfactory nerve development (GO:0021553)|outer ear morphogenesis (GO:0042473)|pituitary gland development (GO:0021983)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of neural precursor cell proliferation (GO:2000177)|transcription, DNA-templated (GO:0006351)|ureteric bud development (GO:0001657)|ureteric bud invasion (GO:0072092)|ventricular septum development (GO:0003281)	chromocenter (GO:0010369)|cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			CGCTGCCAATATGTTCATATT	0.532																																					GBM(103;1352 1446 1855 4775 8890)	ENST00000440970.1																			0				NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126						c.(736-738)aTa>aCa		spalt-like transcription factor 1							87	93	91					16																	51175105		2198	4300	6498	SO:0001583	missense	6299				adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr16:51175105A>G	X98833	CCDS10747.1, CCDS45483.1	16q12.1	2014-09-17	2013-10-17		ENSG00000103449	ENSG00000103449		"Zinc fingers, C2H2-type"	10524	protein-coding gene	gene with protein product		602218	"sal (Drosophila)-like 1", "sal-like 1 (Drosophila)"	TBS		9425907	Standard	NM_002968		Approved	Hsal1, ZNF794	uc021tie.1	Q9NSC2	OTTHUMG00000133176	ENST00000251020.4:c.1028T>C	16.37:g.51175105A>G	ENSP00000251020:p.Ile343Thr					SALL1_ENST00000541611.1_Intron|SALL1_ENST00000251020.4_Missense_Mutation_p.I343T|SALL1_ENST00000566102.1_Intron	p.I246T	NM_001127892.1	NP_001121364.1	Q9NSC2	SALL1_HUMAN	COAD - Colon adenocarcinoma(2;0.24)		2	1168	-		all_cancers(37;0.0322)	343					Q99881|Q9NSC3|Q9P1R0	Missense_Mutation	SNP	ENST00000251020.4	37	c.737T>C	CCDS10747.1	.	.	.	.	.	.	.	.	.	.	A	0.024	-1.394188	0.01175	.	.	ENSG00000103449	ENST00000251020;ENST00000440970;ENST00000457559	T;T	0.06142	3.34;3.38	4.39	4.39	0.52855	.	0.396892	0.30667	N	0.009126	T	0.02688	0.0081	N	0.04508	-0.205	0.09310	N	0.999999	B	0.02656	0.0	B	0.01281	0.0	T	0.46247	-0.9205	10	0.11485	T	0.65	.	8.4853	0.33067	0.9125:0.0:0.0875:0.0	.	343	Q9NSC2	SALL1_HUMAN	T	343;246;307	ENSP00000251020:I343T;ENSP00000407914:I246T	ENSP00000251020:I343T	I	-	2	0	SALL1	49732606	1.000000	0.71417	0.004000	0.12327	0.940000	0.58332	4.936000	0.63506	1.826000	0.53198	0.260000	0.18958	ATA		0.532	SALL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256883.2	NM_002968		5	143	0	0	0	1	0	5	143					G	51175105	A	G	51175105	3	3	84	1	0	0	0	0	1	0	0	0	13810	449	16	4	2954	4	SALL1	16	51175105	Missense_Mutation	SNP	A	TCGA-EJ-7315-01A-31D-2114-08	23668434	51175105	39179648	27	4354											
EDC4	23644	broad.mit.edu	37	chr16	67909965	67909965	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agcaaacaagactggtcttcGgaccatgccacccattaacc	13	7	7	14	1	1	1	0	0	1	1	2	2	1	2	4	2	4	1	4	2	3	2			TCGA-EJ-7315-01A-31D-2114-08	TCGA-EJ-7315-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11afac2e-9d8e-455c-8276-8cb5bdce0537	3aaa44ac-302b-430c-b503-d0de1f251a57	g.chr16:67909965G>A	ENST00000358933.5	+	2	439	c.200G>A	c.(199-201)cGg>cAg	p.R67Q	AC040162.1_ENST00000408599.1_RNA	NM_014329.4	NP_055144.3	Q6P2E9	EDC4_HUMAN	enhancer of mRNA decapping 4	67					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)		ACTGGTCTTCGGACCATGCCA	0.532																																						ENST00000358933.5																			0				breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	41						c.(199-201)cGg>cAg		enhancer of mRNA decapping 4							120	103	109					16																	67909965		2198	4300	6498	SO:0001583	missense	23644				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding	g.chr16:67909965G>A	U17474	CCDS10849.1	16q22.1	2008-02-05			ENSG00000038358	ENSG00000038358			17157	protein-coding gene	gene with protein product		606030				9067524	Standard	NM_014329		Approved	RCD-8, Ge-1, HEDLS	uc002eur.3	Q6P2E9	OTTHUMG00000137543	ENST00000358933.5:c.200G>A	16.37:g.67909965G>A	ENSP00000351811:p.Arg67Gln						p.R67Q	NM_014329.4	NP_055144.3	Q6P2E9	EDC4_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)	2	439	+		Ovarian(137;0.0563)	67					A6NGM1|A8K4T4|Q13025|Q13826|Q6ZR12|Q7Z6H7	Missense_Mutation	SNP	ENST00000358933.5	37	c.200G>A	CCDS10849.1	.	.	.	.	.	.	.	.	.	.	G	14.71	2.616012	0.46631	.	.	ENSG00000038358	ENST00000358933	.	.	.	5.91	5.91	0.95273	.	0.119371	0.64402	D	0.000019	T	0.36880	0.0983	L	0.36672	1.1	0.29365	N	0.864399	B	0.14438	0.01	B	0.04013	0.001	T	0.17776	-1.0358	9	0.22706	T	0.39	-23.3967	12.3979	0.55395	0.0777:0.0:0.9223:0.0	.	67	Q6P2E9	EDC4_HUMAN	Q	67	.	ENSP00000351811:R67Q	R	+	2	0	EDC4	66467466	1.000000	0.71417	0.998000	0.56505	0.882000	0.50991	5.073000	0.64395	2.813000	0.96785	0.655000	0.94253	CGG		0.532	EDC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268874.2	NM_014329		33	113	0	0	0	1	0	33	113					A	67909965	G	A	67909965	3	1	84	1	0	0	0	0	1	0	0	0	4908	1116	39	2	206	2	EDC4	16	67909965	Missense_Mutation	SNP	G	TCGA-EJ-7315-01A-31D-2114-08	16734860	67909965	22444788	28	4355											
TP53	7157	broad.mit.edu	37	chr17	7574018	7574018	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctctcggaacatctcgaagcGctcacgcccacggatctgca	9	7	9	16	5	4	0	1	0	3	0	6	3	4	2	1	2	3	2	1	2	2	0	rs587782529		TCGA-EJ-7315-01A-31D-2114-08	TCGA-EJ-7315-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11afac2e-9d8e-455c-8276-8cb5bdce0537	3aaa44ac-302b-430c-b503-d0de1f251a57	g.chr17:7574018G>A	ENST00000269305.4	-	10	1198	c.1009C>T	c.(1009-1011)Cgc>Tgc	p.R337C	TP53_ENST00000359597.4_Intron|TP53_ENST00000420246.2_3'UTR|TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Missense_Mutation_p.R337C|TP53_ENST00000455263.2_3'UTR	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	337	Interaction with CARM1.|Interaction with HIPK1. {ECO:0000250}.|Interaction with HIPK2.|Oligomerization.		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:9452042}.|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:11481490}.|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R337C(18)|p.0?(8)|p.R337fs*8(2)|p.R337G(1)|p.?(1)|p.I332fs*5(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	ATCTCGAAGCGCTCACGCCCA	0.522		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000269305.4		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"Mis, N, F"	tumor protein p53			"L, E, M, O"		"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"	"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"		31	Substitution - Missense(19)|Whole gene deletion(8)|Deletion - Frameshift(3)|Unknown(1)	p.R337C(18)|p.0?(8)|p.R337fs*8(2)|p.R337G(1)|p.?(1)|p.I332fs*5(1)	central_nervous_system(6)|large_intestine(5)|ovary(4)|bone(4)|breast(3)|haematopoietic_and_lymphoid_tissue(2)|oesophagus(2)|stomach(1)|liver(1)|peritoneum(1)|lung(1)|kidney(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185	GRCh37	CM981929	TP53	M		c.(1009-1011)Cgc>Tgc	Other conserved DNA damage response genes	tumor protein p53							56	44	48					17																	7574018		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7574018G>A	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"Li-Fraumeni syndrome"	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.1009C>T	17.37:g.7574018G>A	ENSP00000269305:p.Arg337Cys	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_ENST00000445888.2_Missense_Mutation_p.R337C|TP53_ENST00000455263.2_3'UTR|TP53_ENST00000413465.2_Intron|TP53_ENST00000420246.2_3'UTR|TP53_ENST00000359597.4_Intron	p.R337C	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	10	1198	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	337		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).	Interaction with CARM1.|Interaction with HIPK1 (By similarity).|Interaction with HIPK2.|Oligomerization.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.1009C>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	9.719	1.159246	0.21454	.	.	ENSG00000141510	ENST00000269305;ENST00000445888;ENST00000396473	D;D	0.95205	-3.64;-3.64	5.43	3.38	0.38709	p53, tetramerisation domain (3);	0.000000	0.85682	D	0.000000	D	0.94321	0.8175	M	0.82323	2.585	0.48341	D	0.999635	P	0.39940	0.696	B	0.40940	0.344	D	0.93083	0.6493	10	0.87932	D	0	-7.3279	12.447	0.55657	0.0:0.0:0.6947:0.3053	.	337	P04637	P53_HUMAN	C	337;337;326	ENSP00000269305:R337C;ENSP00000391478:R337C	ENSP00000269305:R337C	R	-	1	0	TP53	7514743	0.558000	0.26554	0.006000	0.13384	0.274000	0.26718	1.012000	0.29924	0.615000	0.30124	0.561000	0.74099	CGC		0.522	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		6	30	0	0	0	1	0	6	30					A	7574018	G	A	7574018	3	1	84	1	0	0	0	0	1	0	0	0	16378	1087	38	1	180	1	TP53	17	7574018	Missense_Mutation	SNP	G	TCGA-EJ-7315-01A-31D-2114-08		7574018	73621192	29	4356											
NT5M	56953	broad.mit.edu	37	chr17	17250219	17250219	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgcaggctgcactcgtgggcGgacgactggaaggccattct	7	7	15	12	4	1	0	0	0	1	0	2	3	1	2	1	5	1	3	1	5	1	1			TCGA-EJ-7315-01A-31D-2114-08	TCGA-EJ-7315-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11afac2e-9d8e-455c-8276-8cb5bdce0537	3aaa44ac-302b-430c-b503-d0de1f251a57	g.chr17:17250219G>A	ENST00000389022.4	+	5	861	c.645G>A	c.(643-645)gcG>gcA	p.A215A	NT5M_ENST00000582909.1_3'UTR	NM_020201.3	NP_064586.1	Q9NPB1	NT5M_HUMAN	5',3'-nucleotidase, mitochondrial	215					dephosphorylation (GO:0016311)|DNA replication (GO:0006260)|dUMP catabolic process (GO:0046079)|nucleobase-containing small molecule metabolic process (GO:0055086)|pyrimidine deoxyribonucleotide catabolic process (GO:0009223)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	5'-nucleotidase activity (GO:0008253)|metal ion binding (GO:0046872)|nucleotidase activity (GO:0008252)|nucleotide binding (GO:0000166)			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)	4						ACTCGTGGGCGGACGACTGGA	0.692																																						ENST00000389022.4																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(1)	4						c.(643-645)gcG>gcA		5',3'-nucleotidase, mitochondrial							37	44	42					17																	17250219		2203	4300	6503	SO:0001819	synonymous_variant	56953				DNA replication|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	mitochondrial matrix	5'-nucleotidase activity|metal ion binding|nucleotide binding	g.chr17:17250219G>A	AF210652	CCDS32581.1	17p11.2	2007-08-01	2002-05-23		ENSG00000205309	ENSG00000205309	3.1.3.5		15769	protein-coding gene	gene with protein product		605292	"5' nucleotidase, mitochondrial"			10899995	Standard	XM_005256731		Approved	dNT-2, dNT2, mdN	uc002grf.3	Q9NPB1	OTTHUMG00000059277	ENST00000389022.4:c.645G>A	17.37:g.17250219G>A						NT5M_ENST00000582909.1_3'UTR	p.A215A	NM_020201.3	NP_064586.1	Q9NPB1	NT5M_HUMAN			5	861	+			215						Silent	SNP	ENST00000389022.4	37	c.645G>A	CCDS32581.1	.	.	.	.	.	.	.	.	.	.	G	13.07	2.127165	0.37533	.	.	ENSG00000205309	ENST00000446264	.	.	.	5.79	-11.6	0.00059	.	0.046090	0.85682	D	0.000000	T	0.17534	0.0421	.	.	.	0.09310	N	1	B	0.17852	0.024	B	0.10450	0.005	T	0.07366	-1.0776	8	0.87932	D	0	-11.509	1.1693	0.01822	0.4087:0.2271:0.1376:0.2267	.	214	F6S3X3	.	Q	214	.	ENSP00000390695:R214Q	R	+	2	0	NT5M	17190944	0.001000	0.12720	0.167000	0.22817	0.146000	0.21551	-1.501000	0.02281	-2.233000	0.00716	-1.036000	0.02392	CGG		0.692	NT5M-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446045.1			3	62	0	0	0	1	0	3	62					A	17250219	G	A	17250219	2	1	84	1	0	0	0	0	0	0	0	1	10694	1103	39	2		2	NT5M	17	17250219	Silent	SNP	G	TCGA-EJ-7315-01A-31D-2114-08	9676201	17250219	63944991	30	4357											
GSDMB	55876	broad.mit.edu	37	chr17	38073351	38073351	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaccttggagcccagaatcCagttcatctaaccacttgtc	10	11	7	13	0	2	2	1	1	1	1	4	3	3	3	4	1	2	1	4	1	2	4			TCGA-EJ-7315-01A-31D-2114-08	TCGA-EJ-7315-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11afac2e-9d8e-455c-8276-8cb5bdce0537	3aaa44ac-302b-430c-b503-d0de1f251a57	g.chr17:38073351C>T	ENST00000394179.1	-	2	349	c.219G>A	c.(217-219)ctG>ctA	p.L73L	GSDMB_ENST00000309481.7_Silent_p.L73L|GSDMB_ENST00000418519.1_Silent_p.L73L|GSDMB_ENST00000360317.3_Silent_p.L73L|GSDMB_ENST00000394175.2_Silent_p.L73L|GSDMB_ENST00000520542.1_Silent_p.L73L			Q8TAX9	GSDMB_HUMAN	gasdermin B	73						cytoplasm (GO:0005737)				breast(2)|endometrium(3)|large_intestine(6)|lung(6)|pancreas(1)|prostate(1)|stomach(2)	21						GCCCAGAATCCAGTTCATCTA	0.507																																						ENST00000394175.2																			0				breast(2)|endometrium(3)|large_intestine(6)|lung(6)|pancreas(1)|prostate(1)|stomach(2)	21						c.(217-219)ctG>ctA		gasdermin B							125	109	115					17																	38073351		2203	4300	6503	SO:0001819	synonymous_variant	55876					cytoplasm		g.chr17:38073351C>T	AF119884	CCDS11354.1, CCDS42313.1, CCDS54119.1, CCDS54120.1	17q21.2	2008-07-31	2008-07-31	2008-07-31	ENSG00000073605	ENSG00000073605			23690	protein-coding gene	gene with protein product		611221	"gasdermin-like"	GSDML		12883658, 15010812, 17350798	Standard	NM_001042471		Approved	PRO2521	uc010cwj.3	Q8TAX9	OTTHUMG00000133248	ENST00000394179.1:c.219G>A	17.37:g.38073351C>T						GSDMB_ENST00000309481.7_Silent_p.L73L|GSDMB_ENST00000394179.1_Silent_p.L73L|GSDMB_ENST00000418519.1_Silent_p.L73L|GSDMB_ENST00000360317.3_Silent_p.L73L|GSDMB_ENST00000520542.1_Silent_p.L73L	p.L73L	NM_018530.2	NP_061000.2	Q8TAX9	GSDMB_HUMAN			1	442	-			73					B4DKK7|Q7Z377|Q8WY76|Q9NX71|Q9P163	Silent	SNP	ENST00000394179.1	37	c.219G>A		.	.	.	.	.	.	.	.	.	.	C	8.429	0.848272	0.17034	.	.	ENSG00000073605	ENST00000420491	.	.	.	4.23	3.26	0.37387	.	.	.	.	.	.	.	.	.	.	.	0.25598	N	0.986626	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.9529	0.30025	0.0:0.8873:0.0:0.1127	.	.	.	.	X	5	.	.	W	-	2	0	GSDMB	35326877	0.000000	0.05858	0.021000	0.16686	0.617000	0.37484	-0.162000	0.10012	1.125000	0.41998	0.555000	0.69702	TGG		0.507	GSDMB-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_018530		7	91	0	0	0	1	0	7	91					T	38073351	C	T	38073351	2	4	84	1	0	0	0	0	0	0	0	1	6817	581	21	3		3	GSDMB	17	38073351	Silent	SNP	C	TCGA-EJ-7315-01A-31D-2114-08	20823132	38073351	43121859	31	4358											
STAT3	6774	broad.mit.edu	37	chr17	40481653	40481653	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtgtttgtgcccagaatgttAaatttccgggatctgaatca	10	14	10	7	1	2	2	1	1	1	1	3	3	3	3	2	1	1	2	2	1	4	3			TCGA-EJ-7315-01A-31D-2114-08	TCGA-EJ-7315-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11afac2e-9d8e-455c-8276-8cb5bdce0537	3aaa44ac-302b-430c-b503-d0de1f251a57	g.chr17:40481653A>C	ENST00000264657.5	-	13	1464	c.1152T>G	c.(1150-1152)ttT>ttG	p.F384L	STAT3_ENST00000585517.1_Missense_Mutation_p.F384L|STAT3_ENST00000588969.1_Missense_Mutation_p.F384L|STAT3_ENST00000404395.3_Missense_Mutation_p.F384L|STAT3_ENST00000389272.3_Missense_Mutation_p.F286L	NM_003150.3|NM_139276.2	NP_003141.2|NP_644805.1	P40763	STAT3_HUMAN	signal transducer and activator of transcription 3 (acute-phase response factor)	384			F -> L (in AD-HIES). {ECO:0000269|PubMed:17881745}.|F -> S (in AD-HIES). {ECO:0000269|PubMed:17881745}.		acute-phase response (GO:0006953)|astrocyte differentiation (GO:0048708)|cell proliferation (GO:0008283)|cellular component movement (GO:0006928)|cellular response to hormone stimulus (GO:0032870)|cytokine-mediated signaling pathway (GO:0019221)|eating behavior (GO:0042755)|eye photoreceptor cell differentiation (GO:0001754)|glucose homeostasis (GO:0042593)|growth hormone receptor signaling pathway (GO:0060396)|interleukin-6-mediated signaling pathway (GO:0070102)|intracellular receptor signaling pathway (GO:0030522)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|negative regulation of cell death (GO:0060548)|negative regulation of cell proliferation (GO:0008285)|negative regulation of glycolytic process (GO:0045820)|negative regulation of neuron migration (GO:2001223)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphorylation (GO:0016310)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein import into nucleus (GO:0006606)|radial glial cell differentiation (GO:0060019)|regulation of multicellular organism growth (GO:0040014)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|sexual reproduction (GO:0019953)|signal transduction (GO:0007165)|stem cell maintenance (GO:0019827)|temperature homeostasis (GO:0001659)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein dimerization activity (GO:0046983)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|RNA polymerase II repressing transcription factor binding (GO:0001103)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		all_cancers(22;1.39e-06)|all_epithelial(22;2.95e-05)|Breast(137;0.000135)		BRCA - Breast invasive adenocarcinoma(366;0.139)		CCAGAATGTTAAATTTCCGGG	0.458									Hyperimmunoglobulin E Recurrent Infection Syndrome																													ENST00000264657.5																			0				breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	GRCh37	CM086679	STAT3	M		c.(1150-1152)ttT>ttG		signal transducer and activator of transcription 3 (acute-phase response factor)							123	120	121					17																	40481653		2203	4300	6503	SO:0001583	missense	6774	Hyperimmunoglobulin E Recurrent Infection Syndrome	Familial Cancer Database	HIES, Hyper IgE syndrome, autosomal dominant (Job syndrome) / recessive	cellular component movement|eating behavior|eye photoreceptor cell differentiation|glucose homeostasis|interleukin-6-mediated signaling pathway|interspecies interaction between organisms|JAK-STAT cascade involved in growth hormone signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|protein import into nucleus|response to estradiol stimulus|sexual reproduction|temperature homeostasis	cytosol|nucleus|plasma membrane	calcium ion binding|ligand-regulated transcription factor activity|protein dimerization activity|protein kinase binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription factor binding|transcription regulatory region DNA binding	g.chr17:40481653A>C	BC014482	CCDS32656.1, CCDS32657.1, CCDS59288.1	17q21	2014-09-17			ENSG00000168610	ENSG00000168610		"SH2 domain containing"	11364	protein-coding gene	gene with protein product		102582				7512451	Standard	NM_139276		Approved	APRF	uc002hzl.1	P40763	OTTHUMG00000150645	ENST00000264657.5:c.1152T>G	17.37:g.40481653A>C	ENSP00000264657:p.Phe384Leu					STAT3_ENST00000585517.1_Missense_Mutation_p.F384L|STAT3_ENST00000389272.3_Missense_Mutation_p.F286L|STAT3_ENST00000404395.3_Missense_Mutation_p.F384L|STAT3_ENST00000588969.1_Missense_Mutation_p.F384L	p.F384L	NM_003150.3|NM_139276.2	NP_003141.2|NP_644805.1	P40763	STAT3_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.139)	13	1464	-		all_cancers(22;1.39e-06)|all_epithelial(22;2.95e-05)|Breast(137;0.000135)	384		F -> L (in AD-HIES).|F -> S (in AD-HIES).			A8K7B8|K7ENL3|O14916|Q9BW54	Missense_Mutation	SNP	ENST00000264657.5	37	c.1152T>G	CCDS32656.1	.	.	.	.	.	.	.	.	.	.	A	24.0	4.479818	0.84747	.	.	ENSG00000168610	ENST00000264657;ENST00000389272;ENST00000404395	D;D;D	0.88124	-2.34;-2.34;-2.34	5.84	3.31	0.37934	STAT transcription factor, DNA-binding, subdomain (1);STAT transcription factor, DNA-binding (1);p53-like transcription factor, DNA-binding (1);	0.000000	0.85682	D	0.000000	D	0.92028	0.7474	M	0.83223	2.63	0.58432	D	0.99999	D;D;D	0.63880	0.992;0.993;0.993	D;D;D	0.74348	0.971;0.983;0.983	D	0.90146	0.4217	10	0.33940	T	0.23	-22.0865	9.2746	0.37692	0.7788:0.0:0.2212:0.0	.	384;384;384	P40763-2;P40763;B5BTZ6	.;STAT3_HUMAN;.	L	384;286;384	ENSP00000264657:F384L;ENSP00000373923:F286L;ENSP00000384943:F384L	ENSP00000264657:F384L	F	-	3	2	STAT3	37735179	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.717000	0.37991	1.051000	0.40369	0.533000	0.62120	TTT		0.458	STAT3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319353.3	NM_139276, NM_003150		3	88	0	0	0	1	0	3	88					C	40481653	A	C	40481653	3	2	84	1	0	0	0	0	1	0	0	0	15265	359	13	5	1208	5	STAT3	17	40481653	Missense_Mutation	SNP	A	TCGA-EJ-7315-01A-31D-2114-08	2408302	40481653	40713557	32	4359											
SMAD4	4089	broad.mit.edu	37	chr18	48591894	48591894	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctattgttactgttgatggaTacgtggacccttctggagga	8	14	12	7	1	1	1	0	1	1	0	1	5	1	5	1	4	2	2	1	4	3	6			TCGA-EJ-7315-01A-31D-2114-08	TCGA-EJ-7315-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11afac2e-9d8e-455c-8276-8cb5bdce0537	3aaa44ac-302b-430c-b503-d0de1f251a57	g.chr18:48591894T>A	ENST00000342988.3	+	9	1595	c.1057T>A	c.(1057-1059)Tac>Aac	p.Y353N	SMAD4_ENST00000588745.1_Missense_Mutation_p.Y257N|SMAD4_ENST00000398417.2_Missense_Mutation_p.Y353N	NM_005359.5	NP_005350.1	Q13485	SMAD4_HUMAN	SMAD family member 4	353	MH2. {ECO:0000255|PROSITE- ProRule:PRU00439}.				atrioventricular canal development (GO:0036302)|atrioventricular valve formation (GO:0003190)|axon guidance (GO:0007411)|BMP signaling pathway (GO:0030509)|brainstem development (GO:0003360)|branching involved in ureteric bud morphogenesis (GO:0001658)|cardiac septum development (GO:0003279)|cell proliferation (GO:0008283)|developmental growth (GO:0048589)|endocardial cell differentiation (GO:0060956)|endoderm development (GO:0007492)|endothelial cell activation (GO:0042118)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|formation of anatomical boundary (GO:0048859)|gastrulation with mouth forming second (GO:0001702)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|intracellular signal transduction (GO:0035556)|mesoderm development (GO:0007498)|metanephric mesenchyme morphogenesis (GO:0072133)|negative regulation of cell death (GO:0060548)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nephrogenic mesenchyme morphogenesis (GO:0072134)|neural crest cell differentiation (GO:0014033)|neuron fate commitment (GO:0048663)|palate development (GO:0060021)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation involved in heart valve morphogenesis (GO:0003251)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of binding (GO:0051098)|regulation of hair follicle development (GO:0051797)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|regulation of transforming growth factor beta2 production (GO:0032909)|response to hypoxia (GO:0001666)|response to transforming growth factor beta (GO:0071559)|sebaceous gland development (GO:0048733)|SMAD protein complex assembly (GO:0007183)|SMAD protein signal transduction (GO:0060395)|somite rostral/caudal axis specification (GO:0032525)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	activin responsive factor complex (GO:0032444)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMAD protein complex (GO:0071141)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|I-SMAD binding (GO:0070411)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|R-SMAD binding (GO:0070412)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity (GO:0030616)	p.0?(36)|p.?(2)		NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1)	454		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)		TGTTGATGGATACGTGGACCC	0.438																																						ENST00000342988.3																			38	Whole gene deletion(36)|Unknown(2)	p.0?(36)|p.?(2)	pancreas(26)|large_intestine(3)|breast(3)|stomach(2)|lung(2)|upper_aerodigestive_tract(1)|oesophagus(1)	NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1)	454						c.(1057-1059)Tac>Aac		SMAD family member 4							234	195	208					18																	48591894		2203	4300	6503	SO:0001583	missense	4089				BMP signaling pathway|negative regulation of cell growth|negative regulation of protein catabolic process|negative regulation of transcription, DNA-dependent|palate development|positive regulation of epithelial to mesenchymal transition|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|response to transforming growth factor beta stimulus|SMAD protein complex assembly|SMAD protein signal transduction|transforming growth factor beta receptor signaling pathway	activin responsive factor complex|centrosome|cytosol	I-SMAD binding|protein homodimerization activity|R-SMAD binding|transcription regulatory region DNA binding|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity	g.chr18:48591894T>A	U44378	CCDS11950.1	18q21.1	2014-09-17	2006-11-06	2004-05-26	ENSG00000141646	ENSG00000141646		"SMADs"	6770	protein-coding gene	gene with protein product		600993	"MAD, mothers against decapentaplegic homolog 4 (Drosophila)", "SMAD, mothers against DPP homolog 4 (Drosophila)"	MADH4		8553070, 8774881	Standard	NM_005359		Approved	DPC4	uc010xdp.2	Q13485	OTTHUMG00000132696	ENST00000342988.3:c.1057T>A	18.37:g.48591894T>A	ENSP00000341551:p.Tyr353Asn					SMAD4_ENST00000588745.1_Missense_Mutation_p.Y257N|SMAD4_ENST00000398417.2_Missense_Mutation_p.Y353N	p.Y353N	NM_005359.5	NP_005350.1	Q13485	SMAD4_HUMAN		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)	9	1595	+		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)	353			MH2.		A8K405	Missense_Mutation	SNP	ENST00000342988.3	37	c.1057T>A	CCDS11950.1	.	.	.	.	.	.	.	.	.	.	T	29.2	4.984343	0.93044	.	.	ENSG00000141646	ENST00000342988;ENST00000544926;ENST00000398417	D;D	0.98987	-5.3;-5.3	5.86	5.86	0.93980	SMAD domain-like (1);SMAD/FHA domain (1);SMAD domain, Dwarfin-type (3);	0.000000	0.85682	D	0.000000	D	0.99299	0.9755	M	0.85710	2.77	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99164	1.0862	10	0.87932	D	0	.	15.2431	0.73485	0.0:0.0:0.0:1.0	.	353	Q13485	SMAD4_HUMAN	N	353	ENSP00000341551:Y353N;ENSP00000381452:Y353N	ENSP00000341551:Y353N	Y	+	1	0	SMAD4	46845892	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	7.890000	0.87313	2.237000	0.73441	0.460000	0.39030	TAC		0.438	SMAD4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255993.3	NM_005359		25	42	0	0	0	1	0	25	42					A	48591894	T	A	48591894	3	1	84	1	0	0	0	0	1	0	0	0	14760	1406	49	5	1087	5	SMAD4	18	48591894	Missense_Mutation	SNP	T	TCGA-EJ-7315-01A-31D-2114-08		48591894	29485354	33	4360											
PIAS4	51588	broad.mit.edu	37	chr19	4037775	4037777	+	In_Frame_Del	DEL	GAG	GAG	-																															gctcatcgtcctcggaggatGaggaggaggaggaagaggag																										TCGA-EJ-7315-01A-31D-2114-08	TCGA-EJ-7315-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11afac2e-9d8e-455c-8276-8cb5bdce0537	3aaa44ac-302b-430c-b503-d0de1f251a57	g.chr19:4037775_4037777delGAG	ENST00000262971.2	+	11	1550_1552	c.1435_1437delGAG	c.(1435-1437)gagdel	p.E487del		NM_015897.2	NP_056981.2	Q8N2W9	PIAS4_HUMAN	protein inhibitor of activated STAT, 4	487	Asp/Glu-rich (acidic).				negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902231)|positive regulation of keratinocyte apoptotic process (GO:1902174)|positive regulation of protein sumoylation (GO:0033235)|protein sumoylation (GO:0016925)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	DNA binding (GO:0003677)|SUMO ligase activity (GO:0019789)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(3)|pancreas(1)|skin(3)	17				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)		CTCggaggatgaggaggaggagg	0.7																																						ENST00000262971.2																			0				central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(3)|pancreas(1)|skin(3)	17						c.(1435-1437)del		protein inhibitor of activated STAT, 4				70,4124		14,42,2041						-8.7	0			17	150,7992		32,86,3953	no	coding	PIAS4	NM_015897.2		46,128,5994	A1A1,A1R,RR		1.8423,1.6691,1.7834				220,12116				SO:0001651	inframe_deletion	51588				positive regulation of protein sumoylation|transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|PML body	DNA binding|SUMO ligase activity|ubiquitin protein ligase binding|zinc ion binding	g.chr19:4037775_4037777delGAG	AF077952	CCDS12118.1	19p13.3	2011-10-11						"Zinc fingers, MIZ-type"	17002	protein-coding gene	gene with protein product	"zinc finger, MIZ-type containing 6"	605989				9724754	Standard	NM_015897		Approved	Piasg, PIASY, FLJ12419, ZMIZ6	uc002lzg.3	Q8N2W9		ENST00000262971.2:c.1435_1437delGAG	19.37:g.4037784_4037786delGAG	ENSP00000262971:p.Glu487del						p.E487del	NM_015897.2	NP_056981.2	Q8N2W9	PIAS4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)	11	1550_1552	+			487			Asp/Glu-rich (acidic).		O75926|Q96G19|Q9UN16	In_Frame_Del	DEL	ENST00000262971.2	37	c.1435_1437delGAG	CCDS12118.1																																																																																				0.7	PIAS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457496.1	NM_015897		4	4						4	4	---	---	---	---	-	4037777	GAG	-	4037775	7	5	84	1	0	1	0	1	0	0	0	0	11878	1291	45	0	1477	0	PIAS4	19	4037775	In_Frame_Del	DEL	GAG	TCGA-EJ-7315-01A-31D-2114-08		4037775	55091208	34	4361											
HDGFRP2	84717	broad.mit.edu	37	chr19	4493799	4493801	+	In_Frame_Del	DEL	TCC	TCC	-																															cggcgtcctcctcctcctctTcctcctcctcctccgactcc																										TCGA-EJ-7315-01A-31D-2114-08	TCGA-EJ-7315-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11afac2e-9d8e-455c-8276-8cb5bdce0537	3aaa44ac-302b-430c-b503-d0de1f251a57	g.chr19:4493799_4493801delTCC	ENST00000301284.4	+	7	842_844	c.778_780delTCC	c.(778-780)tccdel	p.S264del	HDGFRP2_ENST00000586684.1_In_Frame_Del_p.S264del	NM_001001520.1|NM_032631.2	NP_001001520|NP_116020.1	Q7Z4V5	HDGR2_HUMAN		264	Ser-rich.				transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)										ctcctcctcttcctcctcctcct	0.675																																						ENST00000301284.4																			0											c.(778-780)del					,	24,3834		4,16,1909					,	-7.1	0			17	61,7745		7,47,3849	no	coding,coding	HDGFRP2	NM_032631.2,NM_001001520.1	,	11,63,5758	A1A1,A1R,RR		0.7815,0.6221,0.7287	,	,		85,11579				SO:0001651	inframe_deletion	0				transcription, DNA-dependent	nucleus	DNA binding|protein binding	g.chr19:4493799_4493801delTCC																												ENST00000301284.4:c.778_780delTCC	19.37:g.4493808_4493810delTCC	ENSP00000301284:p.Ser264del					HDGFRP2_ENST00000586684.1_In_Frame_Del_p.S264del	p.S264del	NM_001001520.1|NM_032631.2	NP_001001520.1|NP_116020.1	Q7Z4V5	HDGR2_HUMAN			7	842_844	+			264			Ser-rich.		I3L080|K7EQZ6|Q96GI5|Q9BW08	In_Frame_Del	DEL	ENST00000301284.4	37	c.778_780delTCC	CCDS42472.1																																																																																				0.675	HDGFRP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000458642.1			3	6						3	6	---	---	---	---	-	4493801	TCC	-	4493799	7	5	84	1	0	1	0	1	0	0	0	0	7020	1783	62	0	804	0	HDGFRP2	19	4493799	In_Frame_Del	DEL	TCC	TCGA-EJ-7315-01A-31D-2114-08	456024	4493799	54635184	35	4362											
ANGPTL6	83854	broad.mit.edu	37	chr19	10203390	10203390	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gccgccgtggtgccacacacCgttgaggttggagtgggcac	6	7	16	12	3	0	1	0	1	0	0	0	2	0	2	4	4	1	3	4	4	0	2			TCGA-EJ-7315-01A-31D-2114-08	TCGA-EJ-7315-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11afac2e-9d8e-455c-8276-8cb5bdce0537	3aaa44ac-302b-430c-b503-d0de1f251a57	g.chr19:10203390C>T	ENST00000253109.4	-	6	1526	c.1288G>A	c.(1288-1290)Ggt>Agt	p.G430S	CTD-2240E14.4_ENST00000589622.1_RNA|C19orf66_ENST00000591813.1_3'UTR|C19orf66_ENST00000253110.11_3'UTR|ANGPTL6_ENST00000592641.1_Missense_Mutation_p.G430S|C19orf66_ENST00000397881.3_3'UTR|ANGPTL6_ENST00000589181.1_Missense_Mutation_p.G390S	NM_031917.2	NP_114123.2	Q8NI99	ANGL6_HUMAN	angiopoietin-like 6	430	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				angiogenesis (GO:0001525)|cell differentiation (GO:0030154)	extracellular vesicular exosome (GO:0070062)|secretory granule (GO:0030141)				endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)	12			OV - Ovarian serous cystadenocarcinoma(20;3.58e-08)|Epithelial(33;2.5e-05)|all cancers(31;5.96e-05)			TGCCACACACCGTTGAGGTTG	0.607																																						ENST00000253109.4																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)	12						c.(1288-1290)Ggt>Agt		angiopoietin-like 6							74	61	66					19																	10203390		2203	4300	6503	SO:0001583	missense	83854				angiogenesis|cell differentiation|signal transduction	extracellular space	receptor binding	g.chr19:10203390C>T	AB054064	CCDS12224.1	19p13.2	2013-02-06				ENSG00000130812		"Fibrinogen C domain containing"	23140	protein-coding gene	gene with protein product	"angiopoietin-related protein 5"	609336				12871997	Standard	NM_031917		Approved	ARP5, AGF	uc002mmy.1	Q8NI99		ENST00000253109.4:c.1288G>A	19.37:g.10203390C>T	ENSP00000253109:p.Gly430Ser					ANGPTL6_ENST00000592641.1_Missense_Mutation_p.G430S|C19orf66_ENST00000591813.1_3'UTR|C19orf66_ENST00000397881.3_3'UTR|ANGPTL6_ENST00000589181.1_Missense_Mutation_p.G390S|C19orf66_ENST00000253110.11_3'UTR	p.G430S	NM_031917.2	NP_114123.2	Q8NI99	ANGL6_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;3.58e-08)|Epithelial(33;2.5e-05)|all cancers(31;5.96e-05)		6	1526	-			430			Fibrinogen C-terminal.		A5PKV7|Q9BZZ0	Missense_Mutation	SNP	ENST00000253109.4	37	c.1288G>A	CCDS12224.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.966837	0.74131	.	.	ENSG00000130812	ENST00000253109	D	0.94046	-3.34	4.24	3.21	0.36854	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (4);Fibrinogen, alpha/beta/gamma chain, C-terminal globular, subdomain 2 (1);Fibrinogen, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.97558	0.9200	H	0.97829	4.085	0.80722	D	1	D	0.71674	0.998	D	0.67725	0.953	D	0.97495	1.0056	10	0.87932	D	0	.	10.9833	0.47508	0.0:0.9061:0.0:0.0939	.	430	Q8NI99	ANGL6_HUMAN	S	430	ENSP00000253109:G430S	ENSP00000253109:G430S	G	-	1	0	ANGPTL6	10064390	1.000000	0.71417	0.128000	0.21923	0.621000	0.37620	7.590000	0.82653	1.018000	0.39521	0.306000	0.20318	GGT		0.607	ANGPTL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451142.1	NM_031917		12	33	0	0	0	1	0	12	33					T	10203390	C	T	10203390	3	4	84	1	0	0	0	0	1	0	0	0	618	652	23	2	128	2	ANGPTL6	19	10203390	Missense_Mutation	SNP	C	TCGA-EJ-7315-01A-31D-2114-08	5709591	10203390	48925593	36	4363											
RPS11	6205	broad.mit.edu	37	chr19	50002830	50002830	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggcctctgagcaagacagtgCgcttcaacgtgctcaaggtc	9	8	12	12	2	3	2	2	1	1	1	4	2	3	2	1	2	4	3	1	2	3	1	rs11549537		TCGA-EJ-7315-01A-31D-2114-08	TCGA-EJ-7315-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11afac2e-9d8e-455c-8276-8cb5bdce0537	3aaa44ac-302b-430c-b503-d0de1f251a57	g.chr19:50002830C>A	ENST00000270625.2	+	5	498	c.415C>A	c.(415-417)Cgc>Agc	p.R139S	RPS11_ENST00000594493.1_Missense_Mutation_p.R60S|SNORD35B_ENST00000363660.1_RNA|hsa-mir-150_ENST00000602157.1_5'Flank|RPS11_ENST00000599561.1_3'UTR|MIR150_ENST00000385048.1_RNA	NM_001015.4	NP_001006.1	P62280	RS11_HUMAN	ribosomal protein S11	139					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|cytosolic small ribosomal subunit (GO:0022627)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|rRNA binding (GO:0019843)|structural constituent of ribosome (GO:0003735)			kidney(1)|large_intestine(1)|lung(3)|skin(1)|urinary_tract(1)	7		all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00206)|GBM - Glioblastoma multiforme(486;0.0245)		CAAGACAGTGCGCTTCAACGT	0.597																																						ENST00000270625.2																			0				kidney(1)|large_intestine(1)|lung(3)|skin(1)|urinary_tract(1)	7						c.(415-417)Cgc>Agc		ribosomal protein S11							51	45	47					19																	50002830		2203	4300	6503	SO:0001583	missense	6205				endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit	protein binding|rRNA binding|structural constituent of ribosome	g.chr19:50002830C>A	AB007152	CCDS12769.1	19q13.3	2011-08-03			ENSG00000142534	ENSG00000142534		"S ribosomal proteins"	10384	protein-coding gene	gene with protein product	"40S ribosomal protein S11"	180471				1577483, 9582194	Standard	NM_001015		Approved	S11	uc002pob.2	P62280		ENST00000270625.2:c.415C>A	19.37:g.50002830C>A	ENSP00000270625:p.Arg139Ser					RPS11_ENST00000594493.1_Missense_Mutation_p.R60S|RPS11_ENST00000599561.1_3'UTR	p.R139S	NM_001015.4	NP_001006.1	P62280	RS11_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00206)|GBM - Glioblastoma multiforme(486;0.0245)	5	498	+		all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392)	139					B2R4F5|P04643|Q498Y6|Q6IRY0	Missense_Mutation	SNP	ENST00000270625.2	37	c.415C>A	CCDS12769.1	.	.	.	.	.	.	.	.	.	.	C	15.15	2.748648	0.49257	.	.	ENSG00000142534	ENST00000270625	.	.	.	4.13	3.03	0.35002	Nucleic acid-binding, OB-fold-like (1);Nucleic acid-binding, OB-fold (1);	0.104020	0.64402	D	0.000011	T	0.57888	0.2084	M	0.74258	2.255	0.80722	D	1	B	0.26041	0.14	B	0.23275	0.045	T	0.58509	-0.7624	8	.	.	.	-20.293	10.7401	0.46147	0.2023:0.7977:0.0:0.0	.	139	P62280	RS11_HUMAN	S	139	.	.	R	+	1	0	RPS11	54694642	1.000000	0.71417	0.999000	0.59377	0.956000	0.61745	2.012000	0.40932	2.139000	0.66308	0.549000	0.68633	CGC		0.597	RPS11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465288.1	NM_001015		3	66	1	0	1	1	1	3	66					A	50002830	C	A	50002830	3	1	84	1	0	0	0	0	1	0	0	0	13621	768	27	5	433	5	RPS11	19	50002830	Missense_Mutation	SNP	C	TCGA-EJ-7315-01A-31D-2114-08	39799440	50002830	9126153	37	4364											
CSNK1E	1454	broad.mit.edu	37	chr22	38695932	38695932	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgcagaggacctcgatgggcGttgacatcttcttctcgctg	6	12	12	11	3	3	2	0	1	3	1	5	4	3	3	1	2	1	3	1	2	0	3			TCGA-EJ-7315-01A-31D-2114-08	TCGA-EJ-7315-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11afac2e-9d8e-455c-8276-8cb5bdce0537	3aaa44ac-302b-430c-b503-d0de1f251a57	g.chr22:38695932G>A	ENST00000396832.1	-	6	964	c.704C>T	c.(703-705)aCg>aTg	p.T235M	CSNK1E_ENST00000359867.3_Missense_Mutation_p.T235M|CSNK1E_ENST00000413574.2_Missense_Mutation_p.T235M|CSNK1E_ENST00000498529.1_5'UTR|CSNK1E_ENST00000400206.2_Missense_Mutation_p.T235M|CSNK1E_ENST00000403904.1_Missense_Mutation_p.T235M|CSNK1E_ENST00000405675.3_Missense_Mutation_p.T235M	NM_152221.2	NP_689407.1	P49674	KC1E_HUMAN	casein kinase 1, epsilon	235	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular protein localization (GO:0034613)|circadian regulation of gene expression (GO:0032922)|DNA repair (GO:0006281)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|negative regulation of Wnt signaling pathway (GO:0030178)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|protein phosphorylation (GO:0006468)|regulation of circadian rhythm (GO:0042752)|signal transduction (GO:0007165)	cytosol (GO:0005829)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	22	Melanoma(58;0.045)					CTCGATGGGCGTTGACATCTT	0.597																																					Esophageal Squamous(119;108 755 9651 12170 13692 17603 24932 28315 37982 41601)	ENST00000396832.1																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	22						c.(703-705)aCg>aTg		casein kinase 1, epsilon							202	172	182					22																	38695932		2203	4300	6503	SO:0001583	missense	1454				DNA repair|G2/M transition of mitotic cell cycle|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|signal transduction	cytosol|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr22:38695932G>A		CCDS13970.1	22q13.1	2013-01-17			ENSG00000213923	ENSG00000213923			2453	protein-coding gene	gene with protein product		600863				7797465, 10535959	Standard	NM_001894		Approved	HCKIE, CKIE, CKIepsilon	uc003avk.3	P49674	OTTHUMG00000151135	ENST00000396832.1:c.704C>T	22.37:g.38695932G>A	ENSP00000380044:p.Thr235Met					CSNK1E_ENST00000413574.2_Missense_Mutation_p.T235M|CSNK1E_ENST00000405675.3_Missense_Mutation_p.T235M|CSNK1E_ENST00000498529.1_5'UTR|CSNK1E_ENST00000359867.3_Missense_Mutation_p.T235M|CSNK1E_ENST00000400206.2_Missense_Mutation_p.T235M|CSNK1E_ENST00000403904.1_Missense_Mutation_p.T235M	p.T235M	NM_152221.2	NP_689407.1	P49674	KC1E_HUMAN			6	964	-	Melanoma(58;0.045)		235			Protein kinase.			Missense_Mutation	SNP	ENST00000396832.1	37	c.704C>T	CCDS13970.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	24.1|24.1	4.490350|4.490350	0.84962|0.84962	.|.	.|.	ENSG00000213923|ENSG00000213923	ENST00000451964|ENST00000359867;ENST00000396832;ENST00000402865;ENST00000400206;ENST00000403904;ENST00000413574;ENST00000405675	.|T;T;T;T;T;T	.|0.11385	.|2.78;2.78;2.78;2.78;2.78;2.78	5.02|5.02	5.02|5.02	0.67125|0.67125	.|Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.40909|0.40909	0.1136|0.1136	M|M	0.87381|0.87381	2.88|2.88	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|1.0;1.0;1.0	.|D;D;D	.|0.87578	.|0.986;0.982;0.998	T|T	0.49495|0.49495	-0.8934|-0.8934	5|10	.|0.87932	.|D	.|0	.|.	18.3679|18.3679	0.90398|0.90398	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|235;235;235	.|B0QY35;B0QY34;P49674	.|.;.;KC1E_HUMAN	C|M	173|235	.|ENSP00000352929:T235M;ENSP00000380044:T235M;ENSP00000383067:T235M;ENSP00000384074:T235M;ENSP00000407235:T235M;ENSP00000384426:T235M	.|ENSP00000352929:T235M	R|T	-|-	1|2	0|0	CSNK1E|CSNK1E	37025878|37025878	1.000000|1.000000	0.71417|0.71417	0.367000|0.367000	0.25926|0.25926	0.743000|0.743000	0.42351|0.42351	9.809000|9.809000	0.99208|0.99208	2.330000|2.330000	0.79161|0.79161	0.561000|0.561000	0.74099|0.74099	CGC|ACG		0.597	CSNK1E-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321462.1	NM_001894		4	180	0	0	0	1	0	4	180					A	38695932	G	A	38695932	3	1	84	1	0	0	0	0	1	0	0	0	3953	1145	40	1	566	1	CSNK1E	22	38695932	Missense_Mutation	SNP	G	TCGA-EJ-7315-01A-31D-2114-08		38695932	12608634	38	4365											
TTLL12	23170	broad.mit.edu	37	chr22	43578990	43578991	+	Frame_Shift_Ins	INS	-	-	G																															tggccaggctcctacctgttINSggggtgggctgcctggagcc																								rs34872708		TCGA-EJ-7315-01A-31D-2114-08	TCGA-EJ-7315-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11afac2e-9d8e-455c-8276-8cb5bdce0537	3aaa44ac-302b-430c-b503-d0de1f251a57	g.chr22:43578990_43578991insG	ENST00000216129.6	-	2	405_406	c.342_343insC	c.(340-345)cccaacfs	p.N115fs		NM_015140.3	NP_055955.1	Q14166	TTL12_HUMAN	tubulin tyrosine ligase-like family, member 12	115					cellular protein modification process (GO:0006464)					central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)	13		Ovarian(80;0.221)|Glioma(61;0.222)				TCCTACCTGTTGGGGTGGGCTG	0.639																																						ENST00000216129.6																			0				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)	13						c.(340-345)ccacagfs		tubulin tyrosine ligase-like family, member 12																																				SO:0001589	frameshift_variant	23170				protein modification process		tubulin-tyrosine ligase activity	g.chr22:43578990_43578991insG	D63487	CCDS14047.1	22q13.31	2013-02-14	2006-02-02		ENSG00000100304	ENSG00000100304		"Tubulin tyrosine ligase-like family"	28974	protein-coding gene	gene with protein product						15890843	Standard	NM_015140		Approved	KIAA0153	uc003bdp.3	Q14166	OTTHUMG00000150682	ENST00000216129.6:c.343dupC	22.37:g.43578994_43578994dupG	ENSP00000216129:p.Asn115fs						p.Q115fs	NM_015140.3	NP_055955.1	Q14166	TTL12_HUMAN			2	405_406	-		Ovarian(80;0.221)|Glioma(61;0.222)	115					Q20WK5|Q9UGU3	Frame_Shift_Ins	INS	ENST00000216129.6	37	c.342_343insC	CCDS14047.1																																																																																				0.639	TTLL12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319611.1	NM_015140		18	32						18	32	---	---	---	---	G	43578991	-	G	43578990	7	5	84	1	0	1	1	0	0	0	0	0	16722	1812	63	0	1643	0	TTLL12	22	43578990	Frame_Shift_Ins	INS	-	TCGA-EJ-7315-01A-31D-2114-08	4883058	43578990	7725576	39	4366											
P2RY4	5030	broad.mit.edu	37	chrX	69479042	69479042	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaggcgagggcggccccagcGtagtgcccgaagtgggtggc	6	4	20	11	4	0	0	0	0	0	0	0	3	0	0	3	5	2	1	3	5	2	1			TCGA-EJ-7315-01A-31D-2114-08	TCGA-EJ-7315-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11afac2e-9d8e-455c-8276-8cb5bdce0537	3aaa44ac-302b-430c-b503-d0de1f251a57	g.chrX:69479042G>A	ENST00000374519.2	-	1	612	c.433C>T	c.(433-435)Cgc>Tgc	p.R145C		NM_002565.3	NP_002556.1	P51582	P2RY4_HUMAN	pyrimidinergic receptor P2Y, G-protein coupled, 4	145					phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|transepithelial chloride transport (GO:0030321)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|G-protein coupled purinergic nucleotide receptor activity (GO:0045028)|uridine nucleotide receptor activity (GO:0015065)|UTP-activated nucleotide receptor activity (GO:0045030)			cervix(2)|endometrium(2)|large_intestine(8)|lung(6)	18						CGGCCCCAGCGTAGTGCCCGA	0.597																																						ENST00000374519.2																			0				cervix(2)|endometrium(2)|large_intestine(8)|lung(6)	18						c.(433-435)Cgc>Tgc		pyrimidinergic receptor P2Y, G-protein coupled, 4							52	48	49					X																	69479042		2203	4300	6503	SO:0001583	missense	5030				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|elevation of cytosolic calcium ion concentration	integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	g.chrX:69479042G>A	X91852	CCDS14398.1	Xq13	2012-08-08			ENSG00000186912	ENSG00000186912		"Purinergic receptors", "GPCR / Class A : Purinergic receptors, P2Y"	8542	protein-coding gene	gene with protein product		300038				8537336	Standard	NM_002565		Approved	NRU, P2Y4, UNR, P2P	uc004dxz.1	P51582	OTTHUMG00000021769	ENST00000374519.2:c.433C>T	X.37:g.69479042G>A	ENSP00000363643:p.Arg145Cys						p.R145C	NM_002565.3	NP_002556.1	P51582	P2RY4_HUMAN			1	612	-			145					Q4VBB7|Q4VBB8|Q502W2|Q5JT22	Missense_Mutation	SNP	ENST00000374519.2	37	c.433C>T	CCDS14398.1	.	.	.	.	.	.	.	.	.	.	G	14.68	2.607859	0.46527	.	.	ENSG00000186912	ENST00000374519	T	0.39787	1.06	4.2	4.2	0.49525	GPCR, rhodopsin-like superfamily (1);	0.225320	0.32147	U	0.006502	T	0.56645	0.1999	M	0.90922	3.16	0.19300	N	0.999972	P	0.46706	0.883	P	0.47015	0.534	T	0.59888	-0.7369	10	0.59425	D	0.04	.	10.8402	0.46710	0.0:0.0:0.7973:0.2027	.	145	P51582	P2RY4_HUMAN	C	145	ENSP00000363643:R145C	ENSP00000363643:R145C	R	-	1	0	P2RY4	69395767	0.011000	0.17503	0.497000	0.27552	0.886000	0.51366	1.853000	0.39358	2.087000	0.62958	0.517000	0.50305	CGC		0.597	P2RY4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057058.2	NM_002565		3	19	0	0	0	1	0	3	19					A	69479042	G	A	69479042	3	1	84	1	0	0	0	0	1	0	0	0	11353	1145	40	1	668	1	P2RY4	23	69479042	Missense_Mutation	SNP	G	TCGA-EJ-7315-01A-31D-2114-08		69479042	85791518	40	4367											
CTAG2	30848	broad.mit.edu	37	chrX	153881613	153881613	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatgcggaccccgcggggcGcctcctctcggccccgaggc	3	4	14	20	6	1	0	0	0	1	0	3	2	2	1	7	5	1	0	7	5	0	0			TCGA-EJ-7315-01A-31D-2114-08	TCGA-EJ-7315-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11afac2e-9d8e-455c-8276-8cb5bdce0537	3aaa44ac-302b-430c-b503-d0de1f251a57	g.chrX:153881613G>A	ENST00000247306.4	-	1	240	c.177C>T	c.(175-177)ggC>ggT	p.G59G	CTAG2_ENST00000369585.3_Silent_p.G59G	NM_020994.3	NP_066274.2	O75638	CTAG2_HUMAN	cancer/testis antigen 2	59	Gly-rich.					centrosome (GO:0005813)				central_nervous_system(1)|endometrium(1)|lung(6)|ovary(1)|pancreas(1)	10	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CCCGCGGGGCGCCTCCTCTCG	0.756																																						ENST00000247306.4																			0				central_nervous_system(1)|endometrium(1)|lung(6)|ovary(1)|pancreas(1)	10						c.(175-177)ggC>ggT		cancer/testis antigen 2							12	14	13					X																	153881613		2137	4153	6290	SO:0001819	synonymous_variant	30848					centrosome		g.chrX:153881613G>A	AJ012833	CCDS14759.1, CCDS35455.1	Xq28	2009-08-18			ENSG00000126890	ENSG00000126890			2492	protein-coding gene	gene with protein product	"CTL-recognized antigen on melanoma", "LAGE-1a protein", "cancer/testis antigen family 6, member 2a", "cancer/testis antigen family 6, member 2b"	300396				9626360, 10399963	Standard	NM_020994		Approved	LAGE-1, CAMEL, LAGE1, ESO2, MGC3803, MGC138724, CT6.2a, CT6.2b, LAGE-1a, LAGE-1b	uc004fmi.2	O75638	OTTHUMG00000024239	ENST00000247306.4:c.177C>T	X.37:g.153881613G>A						CTAG2_ENST00000369585.3_Silent_p.G59G	p.G59G	NM_020994.3	NP_066274.1	O75638	CTAG2_HUMAN			1	240	-	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)		59			Gly-rich.		O75637|Q0VIL6|Q14CD6|Q2Z1N4|Q9BU80|Q9UJ89|Q9Y479	Silent	SNP	ENST00000247306.4	37	c.177C>T	CCDS14759.1																																																																																				0.756	CTAG2-001	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000061176.1	NM_020994		13	2	0	0	0	1	0	13	2					A	153881613	G	A	153881613	2	1	84	1	0	0	0	0	0	0	0	1	3991	1074	38	1		1	CTAG2	23	153881613	Silent	SNP	G	TCGA-EJ-7315-01A-31D-2114-08	84402571	153881613	1388947	41	4368											
KIAA0467	23334	broad.mit.edu	37	chr1	43912679	43912679	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtgcgggacctgatgcacgtGcactcgttcagctatgactt	7	11	12	11	3	1	2	1	2	0	0	2	3	1	3	1	1	4	4	1	1	1	3			TCGA-EJ-7317-01A-31D-2114-08	TCGA-EJ-7317-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	342033de-29bc-49af-b78f-f05d7e303b22	2c4f634f-c147-49c3-b5d3-77175dc269cb	g.chr1:43912679G>A	ENST00000562955.1	+	65	8955	c.8955G>A	c.(8953-8955)gtG>gtA	p.V2985V	SZT2-AS1_ENST00000396885.2_RNA|SZT2_ENST00000372442.1_Silent_p.V2143V	NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN	seizure threshold 2 homolog (mouse)	3042					central nervous system development (GO:0007417)|corpus callosum morphogenesis (GO:0021540)|embryo development (GO:0009790)|pigmentation (GO:0043473)|post-embryonic development (GO:0009791)|regulation of superoxide dismutase activity (GO:1901668)	extracellular vesicular exosome (GO:0070062)|peroxisome (GO:0005777)				NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						TGATGCACGTGCACTCGTTCA	0.597																																						ENST00000562955.1																			0				NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						c.(8953-8955)gtG>gtA		seizure threshold 2 homolog (mouse)							138	99	112					1																	43912679		2203	4300	6503	SO:0001819	synonymous_variant	23334					peroxisome		g.chr1:43912679G>A	AB007936	CCDS30694.1, CCDS30694.2	1p34.2	2012-11-19	2011-06-10	2011-06-10	ENSG00000198198	ENSG00000198198			29040	protein-coding gene	gene with protein product	"seizure threshold 2 homolog A (mouse)", "seizure threshold 2 homolog B (mouse)"	615463	"chromosome 1 open reading frame 84", "KIAA0467"	C1orf84, KIAA0467		9455484	Standard	NM_015284		Approved	FLJ10387, SZT2B, RP11-506B15.1, FLJ34502, SZT2A	uc001cjk.3	Q5T011	OTTHUMG00000007423	ENST00000562955.1:c.8955G>A	1.37:g.43912679G>A						SZT2_ENST00000372442.1_Silent_p.V2143V	p.V2985V	NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN			65	8955	+			3042					A0PJK5|A7E2X4|O75055|Q5JUY7|Q5T012|Q5XKC7|Q6ZNI8|Q6ZT24|Q7Z636|Q8NAY9|Q9H5H7|Q9UFQ8	Silent	SNP	ENST00000562955.1	37	c.8955G>A	CCDS30694.2																																																																																				0.597	SZT2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019517.3	NM_015284		3	43	0	0	0	0.217242	0	3	43					A	43912679	G	A	43912679	2	1	85	1	0	0	0	0	0	0	0	1	8178	1306	46	3		3	KIAA0467	1	43912679	Silent	SNP	G	TCGA-EJ-7317-01A-31D-2114-08		43912679	205337942	1	4369											
IPO13	9670	broad.mit.edu	37	chr1	44415596	44415596	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaccagcctggcggtggaaTgtggggctgtcttcccgctg	4	9	17	11	2	1	0	0	0	1	0	2	2	2	2	3	6	1	2	3	6	1	1			TCGA-EJ-7317-01A-31D-2114-08	TCGA-EJ-7317-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	342033de-29bc-49af-b78f-f05d7e303b22	2c4f634f-c147-49c3-b5d3-77175dc269cb	g.chr1:44415596T>G	ENST00000372343.3	+	2	1254	c.592T>G	c.(592-594)Tgt>Ggt	p.C198G		NM_014652.3	NP_055467.3	O94829	IPO13_HUMAN	importin 13	198					protein import into nucleus (GO:0006606)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0821)				GGCGGTGGAATGTGGGGCTGT	0.622																																						ENST00000372343.3																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						c.(592-594)Tgt>Ggt		importin 13							15	17	16					1																	44415596		2203	4297	6500	SO:0001583	missense	9670				protein import into nucleus	cytoplasm|nucleus	protein binding|protein transporter activity	g.chr1:44415596T>G	AB018267	CCDS503.1	1p34.1	2008-02-05			ENSG00000117408	ENSG00000117408		"Importins"	16853	protein-coding gene	gene with protein product		610411				9872452, 11447110	Standard	NM_014652		Approved	IMP13, KIAA0724, RANBP13	uc001ckx.3	O94829	OTTHUMG00000008297	ENST00000372343.3:c.592T>G	1.37:g.44415596T>G	ENSP00000361418:p.Cys198Gly						p.C198G	NM_014652.3	NP_055467.3	O94829	IPO13_HUMAN			2	1254	+	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0821)	198					D3DPY4|Q5T4X3|Q7LC04|Q96HS3|Q9H8N3|Q9UFR1	Missense_Mutation	SNP	ENST00000372343.3	37	c.592T>G	CCDS503.1	.	.	.	.	.	.	.	.	.	.	T	9.998	1.232759	0.22626	.	.	ENSG00000117408	ENST00000372343	T	0.41065	1.01	5.46	5.46	0.80206	Exportin-1/Importin-beta-like (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.043845	0.85682	D	0.000000	T	0.30541	0.0768	N	0.19112	0.55	0.80722	D	1	B	0.24483	0.104	B	0.25759	0.063	T	0.07673	-1.0760	10	0.25751	T	0.34	-4.7048	15.5348	0.75993	0.0:0.0:0.0:1.0	.	198	O94829	IPO13_HUMAN	G	198	ENSP00000361418:C198G	ENSP00000361418:C198G	C	+	1	0	IPO13	44188183	1.000000	0.71417	1.000000	0.80357	0.876000	0.50452	6.015000	0.70791	2.088000	0.63022	0.402000	0.26972	TGT		0.622	IPO13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022846.1	NM_014652		3	16	0	0	0	0.150653	0	3	16					G	44415596	T	G	44415596	3	3	85	1	0	0	0	0	1	0	0	0	7794	1464	51	5	598	5	IPO13	1	44415596	Missense_Mutation	SNP	T	TCGA-EJ-7317-01A-31D-2114-08	502917	44415596	204835025	2	4370											
ATP6V0B	533	broad.mit.edu	37	chr1	44442867	44442867	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	agcgccattggcctctttggGgtcatcgtcgcaattcttca	6	13	10	12	3	4	0	2	0	2	0	6	0	4	0	2	3	1	1	2	3	1	4			TCGA-EJ-7317-01A-31D-2114-08	TCGA-EJ-7317-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	342033de-29bc-49af-b78f-f05d7e303b22	2c4f634f-c147-49c3-b5d3-77175dc269cb	g.chr1:44442867G>C	ENST00000472174.2	+	7	963	c.570G>C	c.(568-570)ggG>ggC	p.G190G	B4GALT2_ENST00000356836.6_5'Flank|B4GALT2_ENST00000309519.7_5'Flank|ATP6V0B_ENST00000498664.1_Silent_p.G143G|ATP6V0B_ENST00000472277.1_3'UTR|ATP6V0B_ENST00000471859.2_Silent_p.G237G|ATP6V0B_ENST00000532642.1_Silent_p.G190G|B4GALT2_ENST00000434555.2_5'Flank|B4GALT2_ENST00000372324.1_5'Flank|ATP6V0B_ENST00000236067.4_Silent_p.G143G	NM_004047.3	NP_004038.1	Q99437	VATO_HUMAN	ATPase, H+ transporting, lysosomal 21kDa, V0 subunit b	190					ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|proton transport (GO:0015992)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|phagocytic vesicle membrane (GO:0030670)|proton-transporting V-type ATPase, V0 domain (GO:0033179)|vacuole (GO:0005773)	hydrogen ion transmembrane transporter activity (GO:0015078)|transporter activity (GO:0005215)			breast(2)|kidney(1)|large_intestine(3)|lung(3)	9	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)				GCCTCTTTGGGGTCATCGTCG	0.557																																						ENST00000532642.1																			0				breast(2)|kidney(1)|large_intestine(3)|lung(3)	9						c.(568-570)ggG>ggC		ATPase, H+ transporting, lysosomal 21kDa, V0 subunit b							83	87	86					1																	44442867		2203	4300	6503	SO:0001819	synonymous_variant	533				ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	endosome membrane|integral to membrane|proton-transporting V-type ATPase, V0 domain|vacuolar membrane	hydrogen ion transmembrane transporter activity	g.chr1:44442867G>C	BC000423	CCDS505.1, CCDS41315.1, CCDS72772.1	1p32.3	2010-04-21	2006-01-20	2002-05-10	ENSG00000117410	ENSG00000117410		"ATPases / V-type"	861	protein-coding gene	gene with protein product		603717	"ATPase, H+ transporting, lysosomal (vacuolar proton pump) 21kD", "ATPase, H+ transporting, lysosomal 21kDa, V0 subunit c''"	ATP6F		9653649	Standard	XM_005270944		Approved	VMA16, HATPL	uc001cld.3	Q99437	OTTHUMG00000008298	ENST00000472174.2:c.570G>C	1.37:g.44442867G>C						ATP6V0B_ENST00000472174.2_Silent_p.G190G|ATP6V0B_ENST00000498664.1_Silent_p.G143G|ATP6V0B_ENST00000472277.1_3'UTR|ATP6V0B_ENST00000471859.2_Silent_p.G237G|ATP6V0B_ENST00000236067.4_Silent_p.G143G	p.G190G			Q99437	VATO_HUMAN			7	667	+	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)	190					D3DPY5|Q6IB32	Silent	SNP	ENST00000472174.2	37	c.570G>C	CCDS505.1	.	.	.	.	.	.	.	.	.	.	G	9.319	1.057577	0.19907	.	.	ENSG00000117410	ENST00000440531	.	.	.	5.1	1.8	0.24995	.	0.000000	0.85682	D	0.000000	T	0.58308	0.2113	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.57136	-0.7863	6	0.87932	D	0	-7.1888	4.056	0.09816	0.0763:0.1333:0.3821:0.4083	.	.	.	.	A	32	.	ENSP00000408413:G32A	G	+	2	0	ATP6V0B	44215454	0.057000	0.20700	1.000000	0.80357	0.999000	0.98932	-0.623000	0.05546	0.470000	0.27294	0.655000	0.94253	GGG		0.557	ATP6V0B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022854.2	NM_004047		26	82	0	0	0	0.740014	0	26	82					C	44442867	G	C	44442867	2	2	85	1	0	0	0	0	0	0	0	1	1171	1219	43	5		5	ATP6V0B	1	44442867	Silent	SNP	G	TCGA-EJ-7317-01A-31D-2114-08	27271	44442867	204807754	3	4371											
WDR26	80232	broad.mit.edu	37	chr1	224621773	224621775	+	In_Frame_Del	DEL	CCT	CCT	-																															ctccaccgccgccgccgccaCctcctcctcctcctcctgcc																								rs561995973		TCGA-EJ-7317-01A-31D-2114-08	TCGA-EJ-7317-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	342033de-29bc-49af-b78f-f05d7e303b22	2c4f634f-c147-49c3-b5d3-77175dc269cb	g.chr1:224621773_224621775delCCT	ENST00000414423.2	-	1	226_228	c.33_35delAGG	c.(31-36)ggaggt>ggt	p.11_12GG>G	WDR26_ENST00000366852.2_In_Frame_Del_p.11_12GG>G|WDR26_ENST00000295024.6_5'UTR	NM_001115113.2|NM_025160.6	NP_001108585.2|NP_079436.4	Q9H7D7	WDR26_HUMAN	WD repeat domain 26	11						cytoplasm (GO:0005737)|nucleus (GO:0005634)				biliary_tract(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)	18				GBM - Glioblastoma multiforme(131;0.0104)		gccgccgccacctcctcctcctc	0.739																																						ENST00000414423.2																			0				biliary_tract(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)	18						c.(31-36)ggt>gg		WD repeat domain 26			,	19,1361		5,9,676					,	-5.4	1			2	42,3026		12,18,1504	no	coding,coding	WDR26	NM_025160.6,NM_001115113.2	,	17,27,2180	A1A1,A1R,RR		1.369,1.3768,1.3714	,	,		61,4387				SO:0001651	inframe_deletion	80232					cytoplasm|nucleus		g.chr1:224621773_224621775delCCT	AK024669	CCDS31037.1, CCDS31037.2	1q42.13	2013-01-09			ENSG00000162923	ENSG00000162923		"WD repeat domain containing"	21208	protein-coding gene	gene with protein product	"GID complex subunit 7 homolog (S. cerevisiae)"						Standard	NM_001115113		Approved	FLJ21016, GID7	uc001hop.4	Q9H7D7	OTTHUMG00000037636	ENST00000414423.2:c.33_35delAGG	1.37:g.224621782_224621784delCCT	ENSP00000408108:p.Gly25del					WDR26_ENST00000295024.6_5'UTR|WDR26_ENST00000366852.2_In_Frame_Del_p.GG23del	p.GG23del	NM_001115113.2|NM_025160.6	NP_001108585.2|NP_079436.4	Q9H7D7	WDR26_HUMAN		GBM - Glioblastoma multiforme(131;0.0104)	1	226_228	-			23					A0MNN3|Q4G100|Q59EC4|Q5GLZ9|Q86UY4|Q9H3C2	In_Frame_Del	DEL	ENST00000414423.2	37	c.33_35delAGG	CCDS31037.2																																																																																				0.739	WDR26-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000091760.2	NM_025160		3	3						3	3	---	---	---	---	-	224621775	CCT	-	224621773	7	5	85	1	0	1	0	1	0	0	0	0	17280	507	18	0	2006	0	WDR26	1	224621773	In_Frame_Del	DEL	CCT	TCGA-EJ-7317-01A-31D-2114-08	180178906	224621773	24628848	4	4372											
RYR2	6262	broad.mit.edu	37	chr1	237796915	237796915	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gatggtggccaactgttgccGttttctctgttacttctgtc	4	17	10	10	1	2	0	0	0	2	0	4	1	2	0	2	2	3	3	2	2	2	5	rs375935636		TCGA-EJ-7317-01A-31D-2114-08	TCGA-EJ-7317-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	342033de-29bc-49af-b78f-f05d7e303b22	2c4f634f-c147-49c3-b5d3-77175dc269cb	g.chr1:237796915G>A	ENST00000366574.2	+	43	6910	c.6593G>A	c.(6592-6594)cGt>cAt	p.R2198H	RYR2_ENST00000360064.6_Missense_Mutation_p.R2196H|RYR2_ENST00000542537.1_Missense_Mutation_p.R2182H	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	2198	4 X approximate repeats.				BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			AACTGTTGCCGTTTTCTCTGT	0.388																																						ENST00000366574.2																			0				NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586						c.(6592-6594)cGt>cAt		ryanodine receptor 2 (cardiac)		G	HIS/ARG	0,3744		0,0,1872	240	232	235		6593	4.9	1	1		235	1,8195		0,1,4097	no	missense	RYR2	NM_001035.2	29	0,1,5969	AA,AG,GG		0.0122,0.0,0.0084	probably-damaging	2198/4968	237796915	1,11939	1872	4098	5970	SO:0001583	missense	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237796915G>A	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"Ion channels / Ryanodine receptors", "EF-hand domain containing"	10484	protein-coding gene	gene with protein product		180902	"arrhythmogenic right ventricular dysplasia 2"	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.6593G>A	1.37:g.237796915G>A	ENSP00000355533:p.Arg2198His					RYR2_ENST00000360064.6_Missense_Mutation_p.R2196H|RYR2_ENST00000542537.1_Missense_Mutation_p.R2182H	p.R2198H	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		43	6910	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	2198			4 X approximate repeats.		Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	c.6593G>A	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	G	32	5.140913	0.94560	0.0	1.22E-4	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	D;D;D	0.96396	-4.0;-4.0;-4.0	4.9	4.9	0.64082	Intracellular calcium-release channel (1);	0.000000	0.64402	D	0.000007	D	0.97682	0.9240	M	0.64567	1.98	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98648	1.0678	10	0.87932	D	0	-9.6234	18.4443	0.90678	0.0:0.0:1.0:0.0	.	2198	Q92736	RYR2_HUMAN	H	2198;2196;2182	ENSP00000355533:R2198H;ENSP00000353174:R2196H;ENSP00000443798:R2182H	ENSP00000353174:R2196H	R	+	2	0	RYR2	235863538	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.754000	0.98908	2.417000	0.82017	0.563000	0.77884	CGT		0.388	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		49	130	0	0	0	0.870114	0	49	130					A	237796915	G	A	237796915	3	1	85	1	0	0	0	0	1	0	0	0	13769	1145	40	1	6763	1	RYR2	1	237796915	Missense_Mutation	SNP	G	TCGA-EJ-7317-01A-31D-2114-08	13175142	237796915	11453706	5	4373											
OR2M4	26245	broad.mit.edu	37	chr1	248403030	248403030	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gagaccagcttctaaacataCgccagaccaggacaagatgg	15	5	10	11	1	1	3	0	0	1	3	1	5	1	4	3	2	3	1	3	2	4	3	rs144697226	byFrequency	TCGA-EJ-7317-01A-31D-2114-08	TCGA-EJ-7317-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	342033de-29bc-49af-b78f-f05d7e303b22	2c4f634f-c147-49c3-b5d3-77175dc269cb	g.chr1:248403030C>T	ENST00000306687.1	+	1	800	c.800C>T	c.(799-801)aCg>aTg	p.T267M		NM_017504.1	NP_059974.1	Q96R27	OR2M4_HUMAN	olfactory receptor, family 2, subfamily M, member 4	267					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.T267M(2)		NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(27)|skin(3)|upper_aerodigestive_tract(2)	50	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			TCTAAACATACGCCAGACCAG	0.517													t|||	11	0.00219649	0.0045	0.0014	5008	,	,		18038	0		0	False		,,,				2504	0.0041					ENST00000306687.1																			2	Substitution - Missense(2)	p.T267M(2)	large_intestine(1)|endometrium(1)	NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(27)|skin(3)|upper_aerodigestive_tract(2)	50						c.(799-801)aCg>aTg		olfactory receptor, family 2, subfamily M, member 4		T	MET/THR	29,4377	823.6+/-416.5	0,29,2174	131	113	119		800	1.4	0	1	dbSNP_134	119	1,8599	819.2+/-406.8	0,1,4299	yes	missense	OR2M4	NM_017504.1	81	0,30,6473	TT,TC,CC		0.0116,0.6582,0.2307	probably-damaging	267/312	248403030	30,12976	2203	4300	6503	SO:0001583	missense	26245				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248403030C>T	X64992	CCDS31108.1	1q44	2012-08-09			ENSG00000171180	ENSG00000171180		"GPCR / Class A : Olfactory receptors"	8270	protein-coding gene	gene with protein product						1370859, 9119360	Standard	NM_017504		Approved	HTPCRX18, TPCR100, HSHTPCRX18, OST710	uc010pzh.2	Q96R27	OTTHUMG00000040456	ENST00000306687.1:c.800C>T	1.37:g.248403030C>T	ENSP00000306688:p.Thr267Met						p.T267M	NM_017504.1	NP_059974.1	Q96R27	OR2M4_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0245)		1	800	+	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		267					Q15611|Q8NG82	Missense_Mutation	SNP	ENST00000306687.1	37	c.800C>T	CCDS31108.1	3	0.0013736263736263737	2	0.0040650406504065045	1	0.0027624309392265192	0	0.0	0	0.0	t	7.287	0.610196	0.14066	0.006582	1.16E-4	ENSG00000171180	ENST00000306687	T	0.00130	8.69	3.34	1.42	0.22433	GPCR, rhodopsin-like superfamily (1);	2.248960	0.02593	N	0.100179	T	0.00210	0.0006	L	0.45228	1.405	0.09310	N	1	D	0.71674	0.998	D	0.65140	0.932	T	0.50742	-0.8792	10	0.72032	D	0.01	.	3.4528	0.07505	0.298:0.4908:0.0:0.2112	.	267	Q96R27	OR2M4_HUMAN	M	267	ENSP00000306688:T267M	ENSP00000306688:T267M	T	+	2	0	OR2M4	246469653	0.000000	0.05858	0.002000	0.10522	0.027000	0.11550	-0.096000	0.11059	0.238000	0.21222	-1.215000	0.01618	ACG		0.517	OR2M4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097352.1	NM_017504		12	93	0	0	0	0.435327	0	12	93					T	248403030	C	T	248403030	3	4	85	1	0	0	0	0	1	0	0	0	11012	536	19	1	802	1	OR2M4	1	248403030	Missense_Mutation	SNP	C	TCGA-EJ-7317-01A-31D-2114-08	10606115	248403030	847591	6	4374											
C2orf71	388939	broad.mit.edu	37	chr2	29295352	29295352	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cacgactctgactgggacctCgtctgcctctcaggggccct	5	9	11	16	2	3	1	1	1	3	0	5	3	3	2	3	3	1	0	3	3	0	0	rs201520631		TCGA-EJ-7317-01A-31D-2114-08	TCGA-EJ-7317-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	342033de-29bc-49af-b78f-f05d7e303b22	2c4f634f-c147-49c3-b5d3-77175dc269cb	g.chr2:29295352C>T	ENST00000331664.5	-	1	1775	c.1776G>A	c.(1774-1776)acG>acA	p.T592T		NM_001029883.2	NP_001025054.1	A6NGG8	CB071_HUMAN	chromosome 2 open reading frame 71	592					response to stimulus (GO:0050896)|visual perception (GO:0007601)	primary cilium (GO:0072372)		p.T592T(1)		NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1)	60						ACTGGGACCTCGTCTGCCTCT	0.632																																						ENST00000331664.5																			1	Substitution - coding silent(1)	p.T592T(1)	endometrium(1)	NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1)	60						c.(1774-1776)acG>acA		chromosome 2 open reading frame 71							36	39	38					2																	29295352		2069	4224	6293	SO:0001819	synonymous_variant	388939				response to stimulus|visual perception	photoreceptor outer segment		g.chr2:29295352C>T		CCDS42669.1	2p23.2	2014-01-28			ENSG00000179270	ENSG00000179270			34383	protein-coding gene	gene with protein product		613425				20398886	Standard	NM_001029883		Approved	FLJ34931, RP54	uc002rmt.2	A6NGG8	OTTHUMG00000152024	ENST00000331664.5:c.1776G>A	2.37:g.29295352C>T							p.T592T	NM_001029883.2	NP_001025054.1	A6NGG8	CB071_HUMAN			1	1775	-			592						Silent	SNP	ENST00000331664.5	37	c.1776G>A	CCDS42669.1																																																																																				0.632	C2orf71-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000324924.3	NM_001029883		9	61	0	0	0	0.361761	0	9	61					T	29295352	C	T	29295352	2	4	85	1	0	0	0	0	0	0	0	1	2191	871	31	2		2	C2orf71	2	29295352	Silent	SNP	C	TCGA-EJ-7317-01A-31D-2114-08		29295352	213904021	7	4375											
CCDC88A	55704	broad.mit.edu	37	chr2	55582770	55582770	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atctgccagttccaccgacaGatgttgtcgactttctgttc	7	14	8	12	2	2	1	0	0	2	1	5	3	3	1	3	0	1	3	3	0	0	4			TCGA-EJ-7317-01A-31D-2114-08	TCGA-EJ-7317-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	342033de-29bc-49af-b78f-f05d7e303b22	2c4f634f-c147-49c3-b5d3-77175dc269cb	g.chr2:55582770G>C	ENST00000436346.1	-	8	1586	c.745C>G	c.(745-747)Ctg>Gtg	p.L249V	CCDC88A_ENST00000263630.8_Missense_Mutation_p.L249V|CCDC88A_ENST00000413716.2_Missense_Mutation_p.L249V|CCDC88A_ENST00000336838.6_Missense_Mutation_p.L249V	NM_001135597.1|NM_001254943.1	NP_001129069.1|NP_001241872.1	Q3V6T2	GRDN_HUMAN	coiled-coil domain containing 88A	249					activation of protein kinase B activity (GO:0032148)|cell migration (GO:0016477)|DNA replication (GO:0006260)|lamellipodium assembly (GO:0030032)|membrane organization (GO:0061024)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell proliferation (GO:0042127)|regulation of DNA replication (GO:0006275)|regulation of neuron projection development (GO:0010975)|regulation of protein phosphorylation (GO:0001932)|TOR signaling (GO:0031929)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|membrane (GO:0016020)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|microtubule binding (GO:0008017)|phosphatidylinositol binding (GO:0035091)|protein homodimerization activity (GO:0042803)|protein kinase B binding (GO:0043422)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(22)|lung(23)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	69						TCCACCGACAGATGTTGTCGA	0.463																																						ENST00000436346.1																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(22)|lung(23)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	69						c.(745-747)Ctg>Gtg		coiled-coil domain containing 88A							131	114	120					2																	55582770		2203	4300	6503	SO:0001583	missense	55704				activation of protein kinase B activity|cell migration|cellular membrane organization|DNA replication|lamellipodium assembly|microtubule cytoskeleton organization|regulation of actin cytoskeleton organization|regulation of cell proliferation|regulation of DNA replication|regulation of neuron projection development|TOR signaling cascade	cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|Golgi apparatus|lamellipodium|plasma membrane	actin binding|microtubule binding|phosphatidylinositol binding|protein homodimerization activity|protein kinase B binding	g.chr2:55582770G>C	AB033038, AF112218	CCDS33203.1, CCDS46288.1, CCDS58710.1	2p16.3	2013-03-13	2007-05-31	2007-05-31	ENSG00000115355	ENSG00000115355			25523	protein-coding gene	gene with protein product	"Galpha-interacting vesicle-associated protein", "Akt-phosphorylation enhancer", "girdin", "girders of actin filaments"	609736	"KIAA1212"	KIAA1212		15749703, 15753085	Standard	NM_001135597		Approved	FLJ10392, APE, GIV, HkRP1, GRDN	uc002ryv.2	Q3V6T2	OTTHUMG00000151915	ENST00000436346.1:c.745C>G	2.37:g.55582770G>C	ENSP00000410608:p.Leu249Val					CCDC88A_ENST00000413716.2_Missense_Mutation_p.L249V|CCDC88A_ENST00000263630.8_Missense_Mutation_p.L249V|CCDC88A_ENST00000336838.6_Missense_Mutation_p.L249V	p.L249V	NM_001135597.1|NM_001254943.1	NP_001129069.1|NP_001241872.1	Q3V6T2	GRDN_HUMAN			8	1586	-			249					A1IGE7|B7ZM78|C9JG83|Q53SF1|Q581G3|Q5HYD0|Q7Z339|Q7Z3C5	Missense_Mutation	SNP	ENST00000436346.1	37	c.745C>G		.	.	.	.	.	.	.	.	.	.	G	18.84	3.709257	0.68615	.	.	ENSG00000115355	ENST00000336838;ENST00000263630;ENST00000436346;ENST00000413716	T;T;T;T	0.71579	-0.58;-0.58;-0.58;-0.58	5.05	2.22	0.28083	.	0.000000	0.38058	U	0.001822	T	0.79936	0.4532	M	0.71581	2.175	0.80722	D	1	D;D;D	0.76494	0.988;0.999;0.999	D;D;D	0.87578	0.951;0.997;0.998	T	0.78127	-0.2325	10	0.51188	T	0.08	-5.5733	9.1172	0.36764	0.3656:0.0:0.6344:0.0	.	249;249;249	B7ZM78;Q3V6T2-2;Q3V6T2-3	.;.;.	V	249	ENSP00000338728:L249V;ENSP00000263630:L249V;ENSP00000410608:L249V;ENSP00000404431:L249V	ENSP00000263630:L249V	L	-	1	2	CCDC88A	55436274	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.530000	0.45641	0.656000	0.30886	0.591000	0.81541	CTG		0.463	CCDC88A-203	KNOWN	basic	protein_coding	protein_coding		NM_017571		34	53	0	0	0	0.847076	0	34	53					C	55582770	G	C	55582770	3	2	85	1	0	0	0	0	1	0	0	0	2863	933	33	5	4970	5	CCDC88A	2	55582770	Missense_Mutation	SNP	G	TCGA-EJ-7317-01A-31D-2114-08	26287418	55582770	187616603	8	4376											
SEMA4C	54910	broad.mit.edu	37	chr2	97530551	97530551	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgccagttcggggcagagcAtgccagccgcgccttcagga	7	6	14	14	3	1	1	1	0	0	1	2	2	1	2	4	3	4	3	4	3	0	2			TCGA-EJ-7317-01A-31D-2114-08	TCGA-EJ-7317-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	342033de-29bc-49af-b78f-f05d7e303b22	2c4f634f-c147-49c3-b5d3-77175dc269cb	g.chr2:97530551A>G	ENST00000305476.5	-	9	985	c.853T>C	c.(853-855)Tgc>Cgc	p.C285R		NM_017789.4	NP_060259.4	Q9C0C4	SEM4C_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4C	285	Dominant negative effect on myogenic differentiation. {ECO:0000250}.|Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				cell migration in hindbrain (GO:0021535)|cerebellum development (GO:0021549)|muscle cell differentiation (GO:0042692)|neural tube closure (GO:0001843)|positive regulation of stress-activated MAPK cascade (GO:0032874)|semaphorin-plexin signaling pathway (GO:0071526)	cell junction (GO:0030054)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|synaptic vesicle membrane (GO:0030672)	receptor activity (GO:0004872)			NS(1)|kidney(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	17						GGGGCAGAGCATGCCAGCCGC	0.632																																						ENST00000305476.5																			0				NS(1)|kidney(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	17						c.(853-855)Tgc>Cgc		sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4C							57	60	59					2																	97530551		2203	4300	6503	SO:0001583	missense	54910				muscle cell differentiation|nervous system development|positive regulation of stress-activated MAPK cascade	cell junction|integral to membrane|postsynaptic density|postsynaptic membrane|synaptic vesicle membrane	receptor activity	g.chr2:97530551A>G	AB051526	CCDS2029.1	2q11.2	2013-01-11			ENSG00000168758	ENSG00000168758		"Semaphorins", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	10731	protein-coding gene	gene with protein product	"M-Sema F"	604462		SEMAI		7656991	Standard	NM_017789		Approved	Semacl1, Semaf	uc002sxh.4	Q9C0C4	OTTHUMG00000130535	ENST00000305476.5:c.853T>C	2.37:g.97530551A>G	ENSP00000306844:p.Cys285Arg						p.C285R	NM_017789.4	NP_060259.4	Q9C0C4	SEM4C_HUMAN			9	985	-			285			Dominant negative effect on myogenic differentiation (By similarity).|Sema.		Q32MJ3|Q7Z5X0	Missense_Mutation	SNP	ENST00000305476.5	37	c.853T>C	CCDS2029.1	.	.	.	.	.	.	.	.	.	.	A	19.64	3.865120	0.71949	.	.	ENSG00000168758	ENST00000305476	D	0.95482	-3.72	5.97	5.97	0.96955	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.000000	0.85682	D	0.000000	D	0.98369	0.9458	H	0.94808	3.585	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99529	1.0960	10	0.87932	D	0	.	15.433	0.75116	1.0:0.0:0.0:0.0	.	285	Q9C0C4	SEM4C_HUMAN	R	285	ENSP00000306844:C285R	ENSP00000306844:C285R	C	-	1	0	SEMA4C	96894278	1.000000	0.71417	0.999000	0.59377	0.572000	0.35998	7.407000	0.80029	2.288000	0.76882	0.533000	0.62120	TGC		0.632	SEMA4C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252957.1	NM_017789		4	61	0	0	0	0.150653	0	4	61					G	97530551	A	G	97530551	3	3	85	1	0	0	0	0	1	0	0	0	14033	217	8	4	1676	4	SEMA4C	2	97530551	Missense_Mutation	SNP	A	TCGA-EJ-7317-01A-31D-2114-08	41947781	97530551	145668822	9	4377											
FKBP7	65977	broad.mit.edu	37	chr2	179343217	179343217	+	5'Flank	DEL	T	T	-																															tctgaataagaaatgcatggTttttggcatcggctccagca																										TCGA-EJ-7317-01A-31D-2114-08	TCGA-EJ-7317-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	342033de-29bc-49af-b78f-f05d7e303b22	2c4f634f-c147-49c3-b5d3-77175dc269cb	g.chr2:179343217delT	ENST00000234453.5	+	0	0				FKBP7_ENST00000424785.2_Frame_Shift_Del_p.T4fs|FKBP7_ENST00000434643.2_Frame_Shift_Del_p.T4fs|FKBP7_ENST00000464248.1_5'UTR	NM_019091.3	NP_061964.3	Q9HB20	PKHA3_HUMAN	pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 3							Golgi apparatus (GO:0005794)|membrane (GO:0016020)	1-phosphatidylinositol binding (GO:0005545)|phospholipid binding (GO:0005543)			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)	11			OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.0266)|all cancers(119;0.0865)			AAATGCATGGTTTTTGGCATC	0.522																																						ENST00000424785.2																			0				kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	8						c.(10-12)ccfs		FK506 binding protein 7							113	133	127					2																	179343217		2202	4300	6502	SO:0001631	upstream_gene_variant	51661				protein folding	endoplasmic reticulum lumen|membrane	calcium ion binding|FK506 binding|peptidyl-prolyl cis-trans isomerase activity	g.chr2:179343217delT	AF286162	CCDS33336.1	2q31.2	2013-01-10	2002-01-14		ENSG00000116095	ENSG00000116095		"Pleckstrin homology (PH) domain containing"	14338	protein-coding gene	gene with protein product	"four-phosphate-adaptor protein 1"	607774	"pleckstrin homology domain-containing, family A (phosphoinositide binding specific) member 3"			11001876, 15107860	Standard	NM_019091		Approved	FAPP1	uc002umn.3	Q9HB20	OTTHUMG00000154446		2.37:g.179343217delT	Exception_encountered					FKBP7_ENST00000434643.2_Frame_Shift_Del_p.T4fs|FKBP7_ENST00000464248.1_5'UTR	p.T4fs	NM_001135212.1|NM_181342.2	NP_001128684.1|NP_851939.1	Q9Y680	FKBP7_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00406)|Epithelial(96;0.0159)|all cancers(119;0.0564)		1	68	-			4					Q4ZG69|Q86TQ1|Q9NXT3	Frame_Shift_Del	DEL	ENST00000234453.5	37	c.10delA	CCDS33336.1																																																																																				0.522	PLEKHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335241.2	NM_019091		7	303						7	303	---	---	---	---	-	179343217	T	-	179343217	6	5	85	0	1	1	0	1	0	0	0	0	5913	1725	60	0		0	FKBP7	2	179343217	5'Flank	DEL	T	TCGA-EJ-7317-01A-31D-2114-08	81812666	179343217	63856156	10	4378											
CCBP2	1238	broad.mit.edu	37	chr3	42906720	42906720	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcttggtgaggctgaggccCgcaggccagggccgggcttt	4	8	18	11	2	1	2	0	2	1	0	1	2	1	2	3	6	0	3	3	6	0	2			TCGA-EJ-7317-01A-31D-2114-08	TCGA-EJ-7317-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	342033de-29bc-49af-b78f-f05d7e303b22	2c4f634f-c147-49c3-b5d3-77175dc269cb	g.chr3:42906720C>A	ENST00000422265.1	+	3	901	c.726C>A	c.(724-726)ccC>ccA	p.P242P	ACKR2_ENST00000273145.2_Silent_p.P242P|ACKR2_ENST00000442925.1_Silent_p.P242P|CYP8B1_ENST00000437102.1_Intron|KRBOX1_ENST00000426937.1_Intron|RP11-141M3.5_ENST00000471537.1_RNA	NM_001296.4	NP_001287.2	O00590	ACKR2_HUMAN	atypical chemokine receptor 2	242					chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|multicellular organismal development (GO:0007275)|neutrophil activation (GO:0042119)|receptor-mediated endocytosis (GO:0006898)	actin filament (GO:0005884)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	C-C chemokine receptor activity (GO:0016493)|C-X-C chemokine receptor activity (GO:0016494)|chemokine receptor activity (GO:0004950)|scavenger receptor activity (GO:0005044)										GGCTGAGGCCCGCAGGCCAGG	0.537																																						ENST00000422265.1																			0											c.(724-726)ccC>ccA		atypical chemokine receptor 2							112	113	113					3																	42906720		2203	4300	6503	SO:0001819	synonymous_variant	1238							g.chr3:42906720C>A	U94888	CCDS2706.1	3p21.3	2013-07-17	2013-07-16	2013-07-16	ENSG00000144648	ENSG00000144648		"GPCR / Class A : Chemokine receptors : Atypical"	1565	protein-coding gene	gene with protein product		602648	"chemokine binding protein 2"	CMKBR9, CCBP2		9364936, 9405404, 16148	Standard	NM_001296		Approved	CCR10, D6, CCR9	uc003cme.3	O00590	OTTHUMG00000133040	ENST00000422265.1:c.726C>A	3.37:g.42906720C>A						ACKR2_ENST00000471537.1_Intron|ACKR2_ENST00000442925.1_Silent_p.P242P|KRBOX1_ENST00000426937.1_Intron|CYP8B1_ENST00000437102.1_Intron|ACKR2_ENST00000273145.2_Silent_p.P242P	p.P242P	NM_001296.4	NP_001287.2					3	901	+								B2R8Y8|O00537|Q53YA1|Q86UN9|Q96A02	Silent	SNP	ENST00000422265.1	37	c.726C>A	CCDS2706.1																																																																																				0.537	ACKR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256645.2	NM_001296		4	167	1	0	0.184627	0.184627	0.192773	4	167					A	42906720	C	A	42906720	2	1	85	1	0	0	0	0	0	0	0	1	2734	639	23	5		5	CCBP2	3	42906720	Silent	SNP	C	TCGA-EJ-7317-01A-31D-2114-08		42906720	155115710	11	4379											
CRYBG3	131544	broad.mit.edu	37	chr3	97618049	97618049	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agaaaaagggaaatacaaatGcttttttgactggggaggat	16	10	12	3	0	0	2	0	1	0	1	0	5	0	5	0	4	2	1	0	4	5	4			TCGA-EJ-7317-01A-31D-2114-08	TCGA-EJ-7317-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	342033de-29bc-49af-b78f-f05d7e303b22	2c4f634f-c147-49c3-b5d3-77175dc269cb	g.chr3:97618049G>C	ENST00000182096.4	+	11	2133	c.2069G>C	c.(2068-2070)tGc>tCc	p.C690S		NM_153605.3	NP_705833.3	Q68DQ2	CRBG3_HUMAN	beta-gamma crystallin domain containing 3	2638							carbohydrate binding (GO:0030246)			breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(10)|stomach(1)|upper_aerodigestive_tract(2)	32						AAATACAAATGCTTTTTTGAC	0.358																																						ENST00000182096.4																			0				breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(10)|stomach(1)|upper_aerodigestive_tract(2)	32						c.(2068-2070)tGc>tCc		beta-gamma crystallin domain containing 3							88	84	85					3																	97618049		1817	4086	5903	SO:0001583	missense	131544							g.chr3:97618049G>C			3q11.2	2008-09-30			ENSG00000080200	ENSG00000080200			34427	protein-coding gene	gene with protein product							Standard	NM_153605		Approved	DKFZp667G2110	uc021xbn.2	Q68DQ2	OTTHUMG00000159187	ENST00000182096.4:c.2069G>C	3.37:g.97618049G>C	ENSP00000182096:p.Cys690Ser						p.C690S	NM_153605.3	NP_705833.3					11	2133	+								B4DLE8|F6VHI2|Q4G0V8|Q7Z4R9|Q86VD0|Q8N262|Q8N7F1|Q8NDQ8	Missense_Mutation	SNP	ENST00000182096.4	37	c.2069G>C		.	.	.	.	.	.	.	.	.	.	G	7.175	0.588472	0.13812	.	.	ENSG00000080200	ENST00000182096	T	0.73152	-0.72	5.86	5.86	0.93980	Beta/gamma crystallin (5);Gamma-crystallin-related (1);	0.108692	0.41712	D	0.000825	T	0.54549	0.1865	N	0.13327	0.33	0.80722	D	1	B	0.21071	0.051	B	0.23852	0.049	T	0.52771	-0.8531	10	0.06757	T	0.87	.	18.9454	0.92620	0.0:0.0:1.0:0.0	.	690	Q68DQ2	CRBG3_HUMAN	S	690	ENSP00000182096:C690S	ENSP00000182096:C690S	C	+	2	0	CRYBG3	99100739	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.124000	0.57924	2.774000	0.95407	0.585000	0.79938	TGC		0.358	CRYBG3-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000353751.1	NM_153605		25	50	0	0	0	0.717897	0	25	50					C	97618049	G	C	97618049	3	2	85	1	0	0	0	0	1	0	0	0	3913	1319	46	5	2111	5	CRYBG3	3	97618049	Missense_Mutation	SNP	G	TCGA-EJ-7317-01A-31D-2114-08	54711329	97618049	100404381	12	4380											
KIAA1257	57501	broad.mit.edu	37	chr3	128696988	128696988	+	Frame_Shift_Del	DEL	T	T	-																															ttggtattctcaatgccctgTtcagataattttctctgatt																										TCGA-EJ-7317-01A-31D-2114-08	TCGA-EJ-7317-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	342033de-29bc-49af-b78f-f05d7e303b22	2c4f634f-c147-49c3-b5d3-77175dc269cb	g.chr3:128696988delT	ENST00000265068.5	-	5	875	c.708delA	c.(706-708)gaafs	p.E236fs	KIAA1257_ENST00000515659.1_Frame_Shift_Del_p.E124fs|KIAA1257_ENST00000511438.1_Frame_Shift_Del_p.E236fs|KIAA1257_ENST00000510149.1_5'UTR	NM_020741.2	NP_065792.1	Q9ULG3	K1257_HUMAN	KIAA1257	236										breast(1)|endometrium(2)|large_intestine(3)|lung(6)|skin(2)	14						CAATGCCCTGTTCAGATAATT	0.358																																						ENST00000265068.5																			0				breast(1)|endometrium(2)|large_intestine(3)|lung(6)|skin(2)	14						c.(706-708)gafs		KIAA1257							136	130	132					3																	128696988		1876	4099	5975	SO:0001589	frameshift_variant	57501							g.chr3:128696988delT	AB033083	CCDS46905.1	3q21.3	2011-11-07			ENSG00000114656	ENSG00000114656			29231	protein-coding gene	gene with protein product						10574462	Standard	NM_020741		Approved		uc003elj.4	Q9ULG3	OTTHUMG00000159946	ENST00000265068.5:c.708delA	3.37:g.128696988delT	ENSP00000265068:p.Glu236fs					KIAA1257_ENST00000515659.1_Frame_Shift_Del_p.E124fs|KIAA1257_ENST00000510149.1_5'UTR|KIAA1257_ENST00000511438.1_Frame_Shift_Del_p.E236fs	p.E236fs	NM_020741.2	NP_065792.1	Q9ULG3	K1257_HUMAN			5	875	-			236					Q8IXY7|Q8N5T4	Frame_Shift_Del	DEL	ENST00000265068.5	37	c.708delA	CCDS46905.1																																																																																				0.358	KIAA1257-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000358430.1	NM_020741		7	66						7	66	---	---	---	---	-	128696988	T	-	128696988	7	5	85	1	0	1	0	1	0	0	0	0	8218	1722	60	0	537	0	KIAA1257	3	128696988	Frame_Shift_Del	DEL	T	TCGA-EJ-7317-01A-31D-2114-08	31078939	128696988	69325442	13	4381											
SPATA16	83893	broad.mit.edu	37	chr3	172835445	172835445	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tggacattttcttgcttgtgTttatctttggaacaagctga	8	18	9	6	0	2	1	0	1	2	0	2	3	2	3	0	2	3	3	0	2	3	7			TCGA-EJ-7317-01A-31D-2114-08	TCGA-EJ-7317-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	342033de-29bc-49af-b78f-f05d7e303b22	2c4f634f-c147-49c3-b5d3-77175dc269cb	g.chr3:172835445T>C	ENST00000351008.3	-	2	260	c.77A>G	c.(76-78)aAc>aGc	p.N26S		NM_031955.5	NP_114161.3	Q9BXB7	SPT16_HUMAN	spermatogenesis associated 16	26					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	Golgi apparatus (GO:0005794)				breast(2)|cervix(1)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	43	Ovarian(172;0.00319)|Breast(254;0.197)		LUSC - Lung squamous cell carcinoma(14;1.48e-14)|Lung(28;6.63e-14)			CTTGCTTGTGTTTATCTTTGG	0.433																																						ENST00000351008.3																			0				breast(2)|cervix(1)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	43						c.(76-78)aAc>aGc		spermatogenesis associated 16							234	217	222					3																	172835445		2203	4300	6503	SO:0001583	missense	83893				cell differentiation|multicellular organismal development|spermatogenesis	Golgi apparatus	binding	g.chr3:172835445T>C	AF345909	CCDS3221.1	3q26.31	2009-01-05			ENSG00000144962	ENSG00000144962			29935	protein-coding gene	gene with protein product		609856				12529416, 17847006	Standard	NM_031955		Approved	NYD-SP12	uc003fin.4	Q9BXB7	OTTHUMG00000156865	ENST00000351008.3:c.77A>G	3.37:g.172835445T>C	ENSP00000341765:p.Asn26Ser						p.N26S	NM_031955.5	NP_114161.3	Q9BXB7	SPT16_HUMAN	LUSC - Lung squamous cell carcinoma(14;1.48e-14)|Lung(28;6.63e-14)		2	260	-	Ovarian(172;0.00319)|Breast(254;0.197)		26					Q0R0N4|Q0R0S0|Q0R0W2|Q0R129|Q0R131|Q0R140|Q0R1B8|Q0R1G5|Q0R1I2|Q0R1J6|Q0R1S4|Q0R202|Q0R280|Q0R2F8|Q0R2N6|Q0R2N7|Q0R2R0|Q0R2R1|Q0R2S3|Q0R2S4|Q0R2S5|Q0R2T4|Q0R2T7|Q0R2U2|Q0R2U8|Q0R2U9|Q0R2V5|Q0R2V7|Q8NE67	Missense_Mutation	SNP	ENST00000351008.3	37	c.77A>G	CCDS3221.1	.	.	.	.	.	.	.	.	.	.	T	16.77	3.215686	0.58452	.	.	ENSG00000144962	ENST00000351008	T	0.16897	2.31	5.02	5.02	0.67125	.	0.113678	0.40222	N	0.001157	T	0.13243	0.0321	L	0.27053	0.805	0.30859	N	0.733733	B	0.28636	0.218	B	0.25291	0.059	T	0.06752	-1.0809	10	0.59425	D	0.04	-8.3627	13.1337	0.59397	0.0:0.0:0.0:1.0	.	26	Q9BXB7	SPT16_HUMAN	S	26	ENSP00000341765:N26S	ENSP00000341765:N26S	N	-	2	0	SPATA16	174318139	0.999000	0.42202	1.000000	0.80357	0.971000	0.66376	3.042000	0.49815	2.096000	0.63516	0.528000	0.53228	AAC		0.433	SPATA16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346322.1	NM_031955		7	198	0	0	0	0.27861	0	7	198					C	172835445	T	C	172835445	3	2	85	1	0	0	0	0	1	0	0	0	15000	1725	60	4	1672	4	SPATA16	3	172835445	Missense_Mutation	SNP	T	TCGA-EJ-7317-01A-31D-2114-08	44138457	172835445	25186985	14	4382											
FRYL	285527	broad.mit.edu	37	chr4	48551612	48551612	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tgctccatcactttcagtcgCcaattagaataaagtggcat	12	12	7	10	1	2	1	2	0	0	1	4	1	3	1	2	1	1	2	2	1	5	3			TCGA-EJ-7317-01A-31D-2114-08	TCGA-EJ-7317-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	342033de-29bc-49af-b78f-f05d7e303b22	2c4f634f-c147-49c3-b5d3-77175dc269cb	g.chr4:48551612C>T	ENST00000503238.1	-	36	4661	c.4662G>A	c.(4660-4662)tgG>tgA	p.W1554*	FRYL_ENST00000264319.7_5'UTR|FRYL_ENST00000507873.2_5'UTR|FRYL_ENST00000537810.1_Nonsense_Mutation_p.W1554*|FRYL_ENST00000358350.4_Nonsense_Mutation_p.W1554*			O94915	FRYL_HUMAN	FRY-like	1554					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)					breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						CTTTCAGTCGCCAATTAGAAT	0.438																																						ENST00000358350.4																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						c.(4660-4662)tgG>tgA		FRY-like							122	118	119					4																	48551612		1955	4138	6093	SO:0001587	stop_gained	285527				regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding	g.chr4:48551612C>T	AL833170	CCDS43227.1	4p12	2011-08-03	2006-11-17	2005-11-24	ENSG00000075539	ENSG00000075539			29127	protein-coding gene	gene with protein product			"KIAA0826", "furry homolog-like (Drosophila)"	KIAA0826		10048485	Standard	NM_015030		Approved	DKFZp686E205	uc003gyh.1	O94915	OTTHUMG00000160608	ENST00000503238.1:c.4662G>A	4.37:g.48551612C>T	ENSP00000426064:p.Trp1554*					FRYL_ENST00000264319.7_5'UTR|FRYL_ENST00000503238.1_Nonsense_Mutation_p.W1554*|FRYL_ENST00000507873.2_5'UTR|FRYL_ENST00000537810.1_Nonsense_Mutation_p.W1554*	p.W1554*	NM_015030.1	NP_055845.1	O94915	FRYL_HUMAN			39	5266	-			1554					O95640|Q8WTZ5|Q9NT40	Nonsense_Mutation	SNP	ENST00000503238.1	37	c.4662G>A	CCDS43227.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	49|49	15.037719|15.037719	0.99820|0.99820	.|.	.|.	ENSG00000075539|ENSG00000075539	ENST00000514617|ENST00000503238;ENST00000358350;ENST00000537810	.|.	.|.	.|.	5.56|5.56	5.56|5.56	0.83823|0.83823	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|.	0.72269|.	0.3439|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.67074|.	-0.5762|.	4|.	.|0.29301	.|T	.|0.29	.|.	19.5353|19.5353	0.95251|0.95251	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	T|X	425|1554	.|.	.|ENSP00000351113:W1554X	A|W	-|-	1|3	0|0	FRYL|FRYL	48246369|48246369	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	7.461000|7.461000	0.80834|0.80834	2.607000|2.607000	0.88179|0.88179	0.655000|0.655000	0.94253|0.94253	GCG|TGG		0.438	FRYL-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000369265.2			28	53	0	0	0	0.750413	0	28	53					T	48551612	C	T	48551612	4	4	85	1	0	0	0	0	0	1	0	0	6064	740	26	3	4483	3	FRYL	4	48551612	Nonsense_Mutation	SNP	C	TCGA-EJ-7317-01A-31D-2114-08		48551612	142602664	15	4383											
UGT2B7	7364	broad.mit.edu	37	chr4	69973826	69973826	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ttcatccaatcctaggtcatCcaaagaccagagcttttata	13	12	5	11	0	2	2	2	0	0	2	5	2	5	2	4	1	1	1	4	1	5	5			TCGA-EJ-7317-01A-31D-2114-08	TCGA-EJ-7317-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	342033de-29bc-49af-b78f-f05d7e303b22	2c4f634f-c147-49c3-b5d3-77175dc269cb	g.chr4:69973826C>A	ENST00000305231.7	+	5	1142	c.1096C>A	c.(1096-1098)Cca>Aca	p.P366T	UGT2B7_ENST00000508661.1_Intron|UGT2B7_ENST00000509763.1_Intron	NM_001074.2	NP_001065.2	P16662	UD2B7_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B7	366					androgen metabolic process (GO:0008209)|cellular glucuronidation (GO:0052695)|lipid metabolic process (GO:0006629)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	glucuronosyltransferase activity (GO:0015020)			autonomic_ganglia(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38					Atorvastatin(DB01076)|Carbamazepine(DB00564)|Chenodeoxycholic acid(DB06777)|Codeine(DB00318)|Dabigatran etexilate(DB06695)|Dapagliflozin(DB06292)|Diclofenac(DB00586)|Epirubicin(DB00445)|Etodolac(DB00749)|Ezetimibe(DB00973)|Flunitrazepam(DB01544)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Ibuprofen(DB01050)|Indomethacin(DB00328)|Losartan(DB00678)|Lovastatin(DB00227)|Mitiglinide(DB01252)|Morphine(DB00295)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Naproxen(DB00788)|Oxazepam(DB00842)|Pitavastatin(DB08860)|Silodosin(DB06207)|Simvastatin(DB00641)|Suprofen(DB00870)|Tapentadol(DB06204)|Valproic Acid(DB00313)|Zidovudine(DB00495)	CCTAGGTCATCCAAAGACCAG	0.418																																						ENST00000305231.7																			0				autonomic_ganglia(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						c.(1096-1098)Cca>Aca		UDP glucuronosyltransferase 2 family, polypeptide B7							87	89	88					4																	69973826		2203	4299	6502	SO:0001583	missense	7364				lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	g.chr4:69973826C>A	BC030974	CCDS3526.1	4q13	2008-02-05	2005-07-20		ENSG00000171234	ENSG00000171234		"UDP glucuronosyltransferases"	12554	protein-coding gene	gene with protein product		600068	"UDP glycosyltransferase 2 family, polypeptide B7"			2159463, 7835904	Standard	NM_001074		Approved	UGT2B9	uc003heg.4	P16662	OTTHUMG00000129404	ENST00000305231.7:c.1096C>A	4.37:g.69973826C>A	ENSP00000304811:p.Pro366Thr					UGT2B7_ENST00000508661.1_Intron|UGT2B7_ENST00000509763.1_Intron	p.P366T	NM_001074.2	NP_001065.2	P16662	UD2B7_HUMAN			5	1142	+			366					B2R810|Q6GTW0	Missense_Mutation	SNP	ENST00000305231.7	37	c.1096C>A	CCDS3526.1	.	.	.	.	.	.	.	.	.	.	C	11.71	1.720781	0.30503	.	.	ENSG00000171234	ENST00000502942;ENST00000305231	T;T	0.68479	-0.33;-0.33	2.72	2.72	0.32119	.	0.000000	0.64402	U	0.000001	T	0.80854	0.4703	H	0.96048	3.76	0.80722	D	1	P	0.45986	0.87	P	0.50049	0.629	D	0.86013	0.1502	9	.	.	.	.	11.1821	0.48633	0.0:1.0:0.0:0.0	.	366	P16662	UD2B7_HUMAN	T	117;366	ENSP00000426206:P117T;ENSP00000304811:P366T	.	P	+	1	0	UGT2B7	70008415	1.000000	0.71417	0.998000	0.56505	0.030000	0.12068	4.053000	0.57427	1.516000	0.48900	0.491000	0.48974	CCA		0.418	UGT2B7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251560.1	NM_001074		23	82	1	0	3.73988e-18	0.706142	4.57813e-18	23	82					A	69973826	C	A	69973826	3	1	85	1	0	0	0	0	1	0	0	0	16959	855	30	5	1114	5	UGT2B7	4	69973826	Missense_Mutation	SNP	C	TCGA-EJ-7317-01A-31D-2114-08	21422214	69973826	121180450	16	4384											
CENPE	1062	broad.mit.edu	37	chr4	104041395	104041395	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tttgctattatgtcattagtCacctcaagttctttctgcat	8	19	5	9	0	5	0	3	0	2	0	5	0	5	0	1	0	2	3	1	0	4	6			TCGA-EJ-7317-01A-31D-2114-08	TCGA-EJ-7317-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	342033de-29bc-49af-b78f-f05d7e303b22	2c4f634f-c147-49c3-b5d3-77175dc269cb	g.chr4:104041395C>T	ENST00000265148.3	-	44	7328	c.7239G>A	c.(7237-7239)gtG>gtA	p.V2413V	CENPE_ENST00000380026.3_Silent_p.V2292V	NM_001813.2	NP_001804.2	Q02224	CENPE_HUMAN	centromere protein E, 312kDa	2413	Kinetochore-binding domain.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|kinetochore assembly (GO:0051382)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic chromosome movement towards spindle pole (GO:0007079)|mitotic metaphase plate congression (GO:0007080)|multicellular organismal development (GO:0007275)|positive regulation of protein kinase activity (GO:0045860)|regulation of mitotic metaphase/anaphase transition (GO:0030071)	chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|condensed chromosome outer kinetochore (GO:0000940)|condensed chromosome, centromeric region (GO:0000779)|condensed nuclear chromosome kinetochore (GO:0000778)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|midbody (GO:0030496)|mitotic spindle midzone (GO:1990023)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|kinetochore binding (GO:0043515)|microtubule motor activity (GO:0003777)			NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3)	101				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)		TGTCATTAGTCACCTCAAGTT	0.323																																						ENST00000265148.3																			0				NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3)	101						c.(7237-7239)gtG>gtA		centromere protein E, 312kDa							184	154	164					4																	104041395		2203	4300	6503	SO:0001819	synonymous_variant	1062				blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity	condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle	ATP binding|kinetochore binding|microtubule motor activity	g.chr4:104041395C>T	Z15005	CCDS34042.1, CCDS68768.1	4q24-q25	2013-11-05	2002-08-29			ENSG00000138778		"Kinesins", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	1856	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 61"	117143	"centromere protein E (312kD)"			7851898	Standard	NM_001286734		Approved	KIF10, PPP1R61	uc003hxb.1	Q02224		ENST00000265148.3:c.7239G>A	4.37:g.104041395C>T						CENPE_ENST00000380026.3_Silent_p.V2292V	p.V2413V	NM_001813.2	NP_001804.2	Q02224	CENPE_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)	44	7328	-			2413			Kinetochore-binding domain.		A6NKY9|A8K2U7|Q4LE75	Silent	SNP	ENST00000265148.3	37	c.7239G>A	CCDS34042.1																																																																																				0.323	CENPE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				5	18	0	0	0	0.184627	0	5	18					T	104041395	C	T	104041395	2	4	85	1	0	0	0	0	0	0	0	1	3230	813	29	3		3	CENPE	4	104041395	Silent	SNP	C	TCGA-EJ-7317-01A-31D-2114-08	34067569	104041395	87112881	17	4385											
ENPEP	2028	broad.mit.edu	37	chr4	111397722	111397722	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccagcggggacggcgggcCgggcactgcgccagctcctt	4	5	16	16	5	0	0	0	0	0	0	2	1	2	1	4	5	3	2	4	5	0	1	rs199759636		TCGA-EJ-7317-01A-31D-2114-08	TCGA-EJ-7317-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	342033de-29bc-49af-b78f-f05d7e303b22	2c4f634f-c147-49c3-b5d3-77175dc269cb	g.chr4:111397722C>T	ENST00000265162.5	+	1	494	c.152C>T	c.(151-153)cCg>cTg	p.P51L		NM_001977.3	NP_001968.3	Q07075	AMPE_HUMAN	glutamyl aminopeptidase (aminopeptidase A)	51					angiogenesis (GO:0001525)|angiotensin catabolic process in blood (GO:0002005)|angiotensin maturation (GO:0002003)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|cellular protein metabolic process (GO:0044267)|glomerulus development (GO:0032835)|regulation of systemic arterial blood pressure by renin-angiotensin (GO:0003081)	apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|brush border (GO:0005903)|cytoplasmic vesicle (GO:0031410)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	aminopeptidase activity (GO:0004177)|metalloaminopeptidase activity (GO:0070006)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(1)	54		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.0031)		GACGGCGGGCCGGGCACTGCG	0.647													C|||	1	0.000199681	0	0	5008	,	,		14464	0		0	False		,,,				2504	0.001					ENST00000265162.5																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(1)	54						c.(151-153)cCg>cTg		glutamyl aminopeptidase (aminopeptidase A)	L-Glutamic Acid(DB00142)						134	131	132					4																	111397722		2203	4300	6503	SO:0001583	missense	2028				cell migration|cell proliferation|cell-cell signaling|proteolysis	integral to plasma membrane	aminopeptidase activity|metalloexopeptidase activity|zinc ion binding	g.chr4:111397722C>T	L12468	CCDS3691.1	4q25	2008-02-05			ENSG00000138792	ENSG00000138792	3.4.11.7	"CD molecules"	3355	protein-coding gene	gene with protein product		138297				9268642	Standard	NM_001977		Approved	gp160, CD249	uc003iab.4	Q07075	OTTHUMG00000132546	ENST00000265162.5:c.152C>T	4.37:g.111397722C>T	ENSP00000265162:p.Pro51Leu						p.P51L	NM_001977.3	NP_001968.3	Q07075	AMPE_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.0031)	1	494	+		Hepatocellular(203;0.217)	51					Q504U2	Missense_Mutation	SNP	ENST00000265162.5	37	c.152C>T	CCDS3691.1	.	.	.	.	.	.	.	.	.	.	C	9.046	0.990802	0.18966	.	.	ENSG00000138792	ENST00000265162	T	0.01304	5.03	4.8	-1.22	0.09494	.	1.690290	0.03521	N	0.221057	T	0.01353	0.0044	N	0.12182	0.205	0.09310	N	0.999999	B	0.13145	0.007	B	0.09377	0.004	T	0.50197	-0.8856	10	0.20046	T	0.44	.	13.9422	0.64062	0.4785:0.5215:0.0:0.0	.	51	Q07075	AMPE_HUMAN	L	51	ENSP00000265162:P51L	ENSP00000265162:P51L	P	+	2	0	ENPEP	111617171	.	.	0.001000	0.08648	0.007000	0.05969	.	.	-0.457000	0.07033	0.313000	0.20887	CCG		0.647	ENPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255747.2			4	149	0	0	0	0.150653	0	4	149					T	111397722	C	T	111397722	3	4	85	1	0	0	0	0	1	0	0	0	5128	652	23	2	154	2	ENPEP	4	111397722	Missense_Mutation	SNP	C	TCGA-EJ-7317-01A-31D-2114-08	7356327	111397722	79756554	18	4386											
DNAH5	1767	broad.mit.edu	37	chr5	13735947	13735947	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctggctaaggaaaggtcaaaTaagcccagaaactggcgaag	16	5	12	8	1	1	1	1	0	0	1	1	3	1	2	1	4	2	1	1	4	6	2			TCGA-EJ-7317-01A-31D-2114-08	TCGA-EJ-7317-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	342033de-29bc-49af-b78f-f05d7e303b22	2c4f634f-c147-49c3-b5d3-77175dc269cb	g.chr5:13735947T>C	ENST00000265104.4	-	67	11654	c.11550A>G	c.(11548-11550)ttA>ttG	p.L3850L		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3850					cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					AAAGGTCAAATAAGCCCAGAA	0.453									Kartagener syndrome																													ENST00000265104.4																			0				NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378						c.(11548-11550)ttA>ttG		dynein, axonemal, heavy chain 5							126	118	120					5																	13735947		2203	4300	6503	SO:0001819	synonymous_variant	1767	Kartagener syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr5:13735947T>C	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"Axonemal dyneins"	2950	protein-coding gene	gene with protein product	"dynein heavy chain 5"	603335	"dynein, axonemal, heavy polypeptide 5"			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.11550A>G	5.37:g.13735947T>C							p.L3850L	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN			67	11654	-	Lung NSC(4;0.00476)		3850					Q92860|Q96L74|Q9H5S7|Q9HCG9	Silent	SNP	ENST00000265104.4	37	c.11550A>G	CCDS3882.1																																																																																				0.453	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369		6	142	0	0	0	0.307466	0	6	142					C	13735947	T	C	13735947	2	2	85	1	0	0	0	0	0	0	0	1	4604	1403	49	4		4	DNAH5	5	13735947	Silent	SNP	T	TCGA-EJ-7317-01A-31D-2114-08		13735947	167179313	19	4387											
PPWD1	23398	broad.mit.edu	37	chr5	64872761	64872761	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	accagacatggaatttggccGacgaatggctgtagaacgtg	12	8	13	8	3	0	2	0	0	0	2	0	5	0	3	2	3	1	2	2	3	4	2			TCGA-EJ-7317-01A-31D-2114-08	TCGA-EJ-7317-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	342033de-29bc-49af-b78f-f05d7e303b22	2c4f634f-c147-49c3-b5d3-77175dc269cb	g.chr5:64872761G>A	ENST00000261308.5	+	6	1097	c.1025G>A	c.(1024-1026)cGa>cAa	p.R342Q	PPWD1_ENST00000535264.1_Missense_Mutation_p.R312Q|PPWD1_ENST00000538977.1_Missense_Mutation_p.R186Q	NM_015342.3	NP_056157.1	Q96BP3	PPWD1_HUMAN	peptidylprolyl isomerase domain and WD repeat containing 1	342					mRNA splicing, via spliceosome (GO:0000398)|protein folding (GO:0006457)	catalytic step 2 spliceosome (GO:0071013)|nucleus (GO:0005634)	peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)	19		Lung NSC(167;7.21e-05)|Prostate(74;0.0174)|Ovarian(174;0.186)		Lung(70;0.00451)		GAATTTGGCCGACGAATGGCT	0.368																																						ENST00000261308.5																			0				breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)	19						c.(1024-1026)cGa>cAa		peptidylprolyl isomerase domain and WD repeat containing 1							145	149	148					5																	64872761		2203	4300	6503	SO:0001583	missense	23398				protein folding	catalytic step 2 spliceosome	peptidyl-prolyl cis-trans isomerase activity	g.chr5:64872761G>A	AK025679	CCDS3985.1, CCDS64161.1, CCDS64162.1	5q12.3	2013-01-09			ENSG00000113593	ENSG00000113593		"WD repeat domain containing"	28954	protein-coding gene	gene with protein product						7584044	Standard	NM_015342		Approved	KIAA0073	uc003jtv.5	Q96BP3	OTTHUMG00000131226	ENST00000261308.5:c.1025G>A	5.37:g.64872761G>A	ENSP00000261308:p.Arg342Gln					PPWD1_ENST00000538977.1_Missense_Mutation_p.R186Q|PPWD1_ENST00000535264.1_Missense_Mutation_p.R312Q	p.R342Q	NM_015342.3	NP_056157.1	Q96BP3	PPWD1_HUMAN		Lung(70;0.00451)	6	1097	+		Lung NSC(167;7.21e-05)|Prostate(74;0.0174)|Ovarian(174;0.186)	342					B4DWR9|Q15002|Q7KZ89	Missense_Mutation	SNP	ENST00000261308.5	37	c.1025G>A	CCDS3985.1	.	.	.	.	.	.	.	.	.	.	G	34	5.369225	0.95900	.	.	ENSG00000113593	ENST00000261308;ENST00000535264;ENST00000538977	T;T;T	0.66460	-0.21;0.02;1.69	5.38	5.38	0.77491	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.85327	0.5671	M	0.88906	2.99	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.87649	0.2527	10	0.66056	D	0.02	.	19.1275	0.93391	0.0:0.0:1.0:0.0	.	312;342	F5H7P7;Q96BP3	.;PPWD1_HUMAN	Q	342;312;186	ENSP00000261308:R342Q;ENSP00000442371:R312Q;ENSP00000444496:R186Q	ENSP00000261308:R342Q	R	+	2	0	PPWD1	64908517	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	9.869000	0.99810	2.532000	0.85374	0.557000	0.71058	CGA		0.368	PPWD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253970.2	NM_015342		16	127	0	0	0	0.592651	0	16	127					A	64872761	G	A	64872761	3	1	85	1	0	0	0	0	1	0	0	0	12414	1058	37	2	1047	2	PPWD1	5	64872761	Missense_Mutation	SNP	G	TCGA-EJ-7317-01A-31D-2114-08	51136814	64872761	116042499	20	4388											
CCNB1	891	broad.mit.edu	37	chr5	68470883	68470883	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attctaagagctttaaacttTggtctgggtcggcctctacc	8	14	9	10	1	3	1	0	0	3	1	4	1	3	1	2	3	3	1	2	3	4	6			TCGA-EJ-7317-01A-31D-2114-08	TCGA-EJ-7317-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	342033de-29bc-49af-b78f-f05d7e303b22	2c4f634f-c147-49c3-b5d3-77175dc269cb	g.chr5:68470883T>C	ENST00000256442.5	+	6	1138	c.885T>C	c.(883-885)ttT>ttC	p.F295F	snoU13_ENST00000459230.1_RNA	NM_031966.3	NP_114172.1	P14635	CCNB1_HUMAN	cyclin B1	295					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cellular response to fatty acid (GO:0071398)|cellular response to hypoxia (GO:0071456)|cellular response to iron(III) ion (GO:0071283)|cellular response to organic cyclic compound (GO:0071407)|digestive tract development (GO:0048565)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|in utero embryonic development (GO:0001701)|mitotic cell cycle (GO:0000278)|mitotic metaphase plate congression (GO:0007080)|mitotic nuclear envelope disassembly (GO:0007077)|mitotic spindle checkpoint (GO:0071174)|mitotic spindle stabilization (GO:0043148)|negative regulation of gene expression (GO:0010629)|negative regulation of protein phosphorylation (GO:0001933)|oocyte maturation (GO:0001556)|positive regulation of attachment of spindle microtubules to kinetochore (GO:0051987)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of histone phosphorylation (GO:0033129)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of mRNA 3'-end processing (GO:0031442)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein complex assembly (GO:0006461)|protein phosphorylation (GO:0006468)|regulation of cell cycle (GO:0051726)|regulation of chromosome condensation (GO:0060623)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|response to DDT (GO:0046680)|response to drug (GO:0042493)|response to mechanical stimulus (GO:0009612)|spermatogenesis (GO:0007283)|tissue regeneration (GO:0042246)|ventricular cardiac muscle cell development (GO:0055015)	centrosome (GO:0005813)|condensed nuclear chromosome outer kinetochore (GO:0000942)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle pole (GO:0000922)	kinase activity (GO:0016301)|patched binding (GO:0005113)|protein kinase binding (GO:0019901)			large_intestine(2)|lung(5)|skin(1)	8		Lung NSC(167;5.51e-05)|Prostate(74;0.00634)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;1.24e-56)|Epithelial(20;1.12e-52)|all cancers(19;2.63e-48)|Lung(70;0.0177)		CTTTAAACTTTGGTCTGGGTC	0.438																																						ENST00000256442.5																			0				large_intestine(2)|lung(5)|skin(1)	8						c.(883-885)ttT>ttC		cyclin B1							134	138	137					5																	68470883		2203	4300	6503	SO:0001819	synonymous_variant	891				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|mitotic cell cycle spindle checkpoint|mitotic metaphase plate congression|mitotic prometaphase|mitotic spindle stabilization|positive regulation of attachment of spindle microtubules to kinetochore|positive regulation of mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of cyclin-dependent protein kinase activity	condensed nuclear chromosome outer kinetochore|cytosol|microtubule organizing center|nucleoplasm|spindle pole		g.chr5:68470883T>C	U22364	CCDS3997.1	5q12	2008-07-18			ENSG00000134057	ENSG00000134057			1579	protein-coding gene	gene with protein product	"G2/mitotic-specific cyclin B1"	123836		CCNB		1386342	Standard	NM_031966		Approved		uc003jvm.3	P14635	OTTHUMG00000097817	ENST00000256442.5:c.885T>C	5.37:g.68470883T>C							p.F295F	NM_031966.3	NP_114172.1	P14635	CCNB1_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;1.24e-56)|Epithelial(20;1.12e-52)|all cancers(19;2.63e-48)|Lung(70;0.0177)	6	1138	+		Lung NSC(167;5.51e-05)|Prostate(74;0.00634)|Ovarian(174;0.0448)|Breast(144;0.198)	295					A8K066|Q5TZP9	Silent	SNP	ENST00000256442.5	37	c.885T>C	CCDS3997.1																																																																																				0.438	CCNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215084.1	NM_031966		6	127	0	0	0	0.335167	0	6	127					C	68470883	T	C	68470883	2	2	85	1	0	0	0	0	0	0	0	1	2911	1809	63	4		4	CCNB1	5	68470883	Silent	SNP	T	TCGA-EJ-7317-01A-31D-2114-08	3598122	68470883	112444377	21	4389											
THBS4	7060	broad.mit.edu	37	chr5	79372774	79372776	+	In_Frame_Del	DEL	TGA	TGA	-																															gatggaattggtgacgagtgTgatgatgatgatgacaatga																										TCGA-EJ-7317-01A-31D-2114-08	TCGA-EJ-7317-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	342033de-29bc-49af-b78f-f05d7e303b22	2c4f634f-c147-49c3-b5d3-77175dc269cb	g.chr5:79372774_79372776delTGA	ENST00000350881.2	+	16	2179_2181	c.1989_1991delTGA	c.(1987-1992)tgtgat>tgt	p.D668del	THBS4_ENST00000511733.1_In_Frame_Del_p.D577del|CTD-2201I18.1_ENST00000514042.1_RNA|CTD-2201I18.1_ENST00000503007.1_RNA	NM_003248.4	NP_003239.2	P35443	TSP4_HUMAN	thrombospondin 4	668					behavioral response to pain (GO:0048266)|endothelial cell-cell adhesion (GO:0071603)|myoblast migration (GO:0051451)|negative regulation of angiogenesis (GO:0016525)|positive regulation of cell division (GO:0051781)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|regulation of tissue remodeling (GO:0034103)|response to endoplasmic reticulum stress (GO:0034976)|response to unfolded protein (GO:0006986)|tissue remodeling (GO:0048771)	basement membrane (GO:0005604)|endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|sarcoplasmic reticulum (GO:0016529)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)|integrin binding (GO:0005178)			breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|stomach(3)	34		Lung NSC(167;0.00328)|all_lung(232;0.00355)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;6.3e-45)|Epithelial(54;1.77e-39)|all cancers(79;3.2e-34)		GTGACGAGTGTGATGATGATGAT	0.562																																						ENST00000350881.2																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|stomach(3)	34						c.(1987-1992)tgt>tg		thrombospondin 4																																				SO:0001651	inframe_deletion	7060				endothelial cell-cell adhesion|myoblast migration|negative regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of neutrophil chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation	basement membrane|extracellular space	calcium ion binding|heparin binding|integrin binding|structural molecule activity	g.chr5:79372774_79372776delTGA		CCDS4049.1	5q13	2008-05-15			ENSG00000113296	ENSG00000113296			11788	protein-coding gene	gene with protein product		600715				7852353	Standard	NM_003248		Approved		uc021yaw.1	P35443	OTTHUMG00000108173	ENST00000350881.2:c.1989_1991delTGA	5.37:g.79372783_79372785delTGA	ENSP00000339730:p.Asp668del					CTD-2201I18.1_ENST00000503007.1_RNA|CTD-2201I18.1_ENST00000514042.1_RNA|THBS4_ENST00000511733.1_In_Frame_Del_p.CD572del	p.CD663del	NM_003248.4	NP_003239.2	P35443	TSP4_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;6.3e-45)|Epithelial(54;1.77e-39)|all cancers(79;3.2e-34)	16	2179_2181	+		Lung NSC(167;0.00328)|all_lung(232;0.00355)|Ovarian(174;0.0261)	663					B2R909|Q86TG2	In_Frame_Del	DEL	ENST00000350881.2	37	c.1989_1991delTGA	CCDS4049.1																																																																																				0.562	THBS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226977.1			7	372						7	372	---	---	---	---	-	79372776	TGA	-	79372774	7	5	85	1	0	1	0	1	0	0	0	0	15853	1702	59	0	2051	0	THBS4	5	79372774	In_Frame_Del	DEL	TGA	TCGA-EJ-7317-01A-31D-2114-08	10901891	79372774	101542486	22	4390											
KIF20A	10112	broad.mit.edu	37	chr5	137520549	137520549	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgcttttgaaggaacgacaGgaaaagctacagctggagat	14	8	12	7	1	0	2	0	1	0	1	0	6	0	4	0	3	5	3	0	3	5	3	rs114549959		TCGA-EJ-7317-01A-31D-2114-08	TCGA-EJ-7317-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	342033de-29bc-49af-b78f-f05d7e303b22	2c4f634f-c147-49c3-b5d3-77175dc269cb	g.chr5:137520549G>A	ENST00000394894.3	+	14	1963	c.1737G>A	c.(1735-1737)caG>caA	p.Q579Q	KIF20A_ENST00000508792.1_Silent_p.Q561Q	NM_005733.2	NP_005724.1	O95235	KI20A_HUMAN	kinesin family member 20A	579					ATP catabolic process (GO:0006200)|cytokinesis (GO:0000910)|metabolic process (GO:0008152)|microtubule bundle formation (GO:0001578)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	Golgi apparatus (GO:0005794)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|nucleoplasm (GO:0005654)|spindle (GO:0005819)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|protein kinase binding (GO:0019901)|transporter activity (GO:0005215)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|liver(2)|lung(9)|prostate(2)|upper_aerodigestive_tract(1)	27			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			AGGAACGACAGGAAAAGCTAC	0.488													G|||	1	0.000199681	8e-04	0	5008	,	,		23024	0		0	False		,,,				2504	0					ENST00000394894.3																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|liver(2)|lung(9)|prostate(2)|upper_aerodigestive_tract(1)	27						c.(1735-1737)caG>caA		kinesin family member 20A							126	127	127					5																	137520549		2203	4300	6503	SO:0001819	synonymous_variant	10112				cytokinesis|M phase of mitotic cell cycle|microtubule-based movement|protein transport|vesicle-mediated transport	Golgi apparatus|microtubule|nucleoplasm	ATP binding|microtubule motor activity|protein binding|transporter activity	g.chr5:137520549G>A	AF070672	CCDS4199.1	5q31	2008-02-05	2003-01-13	2003-01-17	ENSG00000112984	ENSG00000112984		"Kinesins"	9787	protein-coding gene	gene with protein product		605664	"RAB6 interacting, kinesin-like (rabkinesin6)"	RAB6KIFL		11416179, 10806357	Standard	NM_005733		Approved		uc003lcj.3	O95235	OTTHUMG00000129195	ENST00000394894.3:c.1737G>A	5.37:g.137520549G>A						KIF20A_ENST00000508792.1_Silent_p.Q561Q	p.Q579Q	NM_005733.2	NP_005724.1	O95235	KI20A_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)		14	1963	+			579					B4DL79|D3DQB6	Silent	SNP	ENST00000394894.3	37	c.1737G>A	CCDS4199.1																																																																																				0.488	KIF20A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251272.1	NM_005733		33	88	0	0	0	0.812448	0	33	88					A	137520549	G	A	137520549	2	1	85	1	0	0	0	0	0	0	0	1	8286	991	35	3		3	KIF20A	5	137520549	Silent	SNP	G	TCGA-EJ-7317-01A-31D-2114-08	58147775	137520549	43394711	23	4391											
PCDHB10	56126	broad.mit.edu	37	chr5	140572701	140572701	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgaaggcatgatatatccAgagctagtgttggacaaagc	14	9	12	6	0	0	3	0	2	0	1	1	5	1	4	1	2	2	3	1	2	5	4			TCGA-EJ-7317-01A-31D-2114-08	TCGA-EJ-7317-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	342033de-29bc-49af-b78f-f05d7e303b22	2c4f634f-c147-49c3-b5d3-77175dc269cb	g.chr5:140572701A>G	ENST00000239446.4	+	1	760	c.576A>G	c.(574-576)ccA>ccG	p.P192P		NM_018930.3	NP_061753.1	Q9UN67	PCDBA_HUMAN	protocadherin beta 10	192	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(30)|ovary(4)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	76			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGATATATCCAGAGCTAGTGT	0.502																																						ENST00000239446.4																			0				breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(30)|ovary(4)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	76						c.(574-576)ccA>ccG									120	139	132					5																	140572701		2203	4300	6503	SO:0001819	synonymous_variant	0				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140572701A>G	AF152489	CCDS4252.1	5q31.3	2010-06-15			ENSG00000120324	ENSG00000120324		"Cadherins / Protocadherins : Clustered"	8681	other	protocadherin		606336				10380929	Standard	NM_018930		Approved		uc003lix.3	Q9UN67	OTTHUMG00000129626	ENST00000239446.4:c.576A>G	5.37:g.140572701A>G							p.P192P	NM_018930.3	NP_061753.1	Q9UN67	PCDBA_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	760	+			192			Cadherin 2.		Q96T99	Silent	SNP	ENST00000239446.4	37	c.576A>G	CCDS4252.1																																																																																				0.502	PCDHB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251821.1	NM_018930		79	174	0	0	0	0.870114	0	79	174					G	140572701	A	G	140572701	2	3	85	1	0	0	0	0	0	0	0	1	11535	175	7	4		4	PCDHB10	5	140572701	Silent	SNP	A	TCGA-EJ-7317-01A-31D-2114-08	3052152	140572701	40342559	24	4392											
ODZ2	57451	broad.mit.edu	37	chr5	167420177	167420177	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctcttggctattttgctggcGtatttcataggtaagtcagg	7	16	11	7	1	3	0	2	0	1	0	3	0	3	0	0	4	1	4	0	4	4	8	rs187245740	byFrequency	TCGA-EJ-7317-01A-31D-2114-08	TCGA-EJ-7317-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	342033de-29bc-49af-b78f-f05d7e303b22	2c4f634f-c147-49c3-b5d3-77175dc269cb	g.chr5:167420177G>A	ENST00000518659.1	+	5	1215	c.1176G>A	c.(1174-1176)gcG>gcA	p.A392A	TENM2_ENST00000520394.1_Silent_p.A201A|TENM2_ENST00000545108.1_Silent_p.A392A|TENM2_ENST00000403607.2_Silent_p.A225A|TENM2_ENST00000519204.1_Silent_p.A271A	NM_001122679.1	NP_001116151.1	Q9NT68	TEN2_HUMAN	teneurin transmembrane protein 2	392					axon guidance (GO:0007411)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|heterophilic cell-cell adhesion (GO:0007157)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of filopodium assembly (GO:0051491)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cell-cell junction (GO:0005911)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|endoplasmic reticulum (GO:0005783)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)										TTTTGCTGGCGTATTTCATAG	0.537													G|||	3	0.000599042	0	0	5008	,	,		18729	0.003		0	False		,,,				2504	0					ENST00000519204.1																			0											c.(811-813)gcG>gcA		teneurin transmembrane protein 2							35	36	36					5																	167420177		1922	4134	6056	SO:0001819	synonymous_variant	57451							g.chr5:167420177G>A	AB032953		5q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000145934	ENSG00000145934			29943	protein-coding gene	gene with protein product		610119	"odz, odd Oz/ten-m homolog 2 (Drosophila)"	ODZ2		10625539	Standard	NM_001122679		Approved	KIAA1127, Ten-M2	uc010jjd.3	Q9NT68	OTTHUMG00000162928	ENST00000518659.1:c.1176G>A	5.37:g.167420177G>A						TENM2_ENST00000403607.2_Silent_p.A225A|TENM2_ENST00000518659.1_Silent_p.A392A|TENM2_ENST00000545108.1_Silent_p.A392A|TENM2_ENST00000520394.1_Silent_p.A201A	p.A271A							4	931	+								Q9ULU2	Silent	SNP	ENST00000518659.1	37	c.813G>A																																																																																					0.537	TENM2-001	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000376096.1	NM_001122679		4	47	0	0	0	0.184627	0	4	47					A	167420177	G	A	167420177	2	1	85	1	0	0	0	0	0	0	0	1	10835	1132	40	1		1	ODZ2	5	167420177	Silent	SNP	G	TCGA-EJ-7317-01A-31D-2114-08	26847476	167420177	13495083	25	4393											
CDHR2	54825	broad.mit.edu	37	chr5	176016426	176016426	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gggtcctttcctggaagccaCcaccaccctgaatgtgagtg	8	9	11	13	0	0	2	0	2	0	0	2	3	2	3	6	2	1	0	6	2	2	1			TCGA-EJ-7317-01A-31D-2114-08	TCGA-EJ-7317-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	342033de-29bc-49af-b78f-f05d7e303b22	2c4f634f-c147-49c3-b5d3-77175dc269cb	g.chr5:176016426C>A	ENST00000510636.1	+	23	3378	c.3104C>A	c.(3103-3105)aCc>aAc	p.T1035N	CDHR2_ENST00000506348.1_Missense_Mutation_p.T1035N|CDHR2_ENST00000261944.5_Missense_Mutation_p.T1035N	NM_001171976.1	NP_001165447.1	Q9BYE9	CDHR2_HUMAN	cadherin-related family member 2	1035	Cadherin 9. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|negative regulation of cell growth (GO:0030308)	cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1)	56						CTGGAAGCCACCACCACCCTG	0.652																																						ENST00000510636.1																			0				breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1)	56						c.(3103-3105)aCc>aAc		cadherin-related family member 2							109	103	105					5																	176016426		2203	4300	6503	SO:0001583	missense	54825				homophilic cell adhesion|negative regulation of cell growth	apical plasma membrane|cell junction|integral to membrane	calcium ion binding|protein binding	g.chr5:176016426C>A	AB047004	CCDS34297.1	5q35.2	2011-07-01	2010-01-25	2010-01-25		ENSG00000074276		"Cadherins / Cadherin-related"	18231	protein-coding gene	gene with protein product	"protocadherin LKC"		"protocadherin 24"	PCDH24		11082270, 12117771	Standard	NM_001171976		Approved	PC-LKC, FLJ20124, FLJ20383, PCLKC	uc003mem.2	Q9BYE9		ENST00000510636.1:c.3104C>A	5.37:g.176016426C>A	ENSP00000424565:p.Thr1035Asn					CDHR2_ENST00000506348.1_Missense_Mutation_p.T1035N|CDHR2_ENST00000261944.5_Missense_Mutation_p.T1035N	p.T1035N	NM_001171976.1	NP_001165447.1	Q9BYE9	CDHR2_HUMAN			23	3378	+			1035			Cadherin 9.		A1L3U4|A6NC80|Q9NXP8	Missense_Mutation	SNP	ENST00000510636.1	37	c.3104C>A	CCDS34297.1	.	.	.	.	.	.	.	.	.	.	c	0.312	-0.967429	0.02232	.	.	ENSG00000074276	ENST00000510636;ENST00000261944;ENST00000506348	T;T;T	0.56275	0.47;0.47;0.47	4.99	-4.75	0.03239	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.21590	0.0520	N	0.04746	-0.17	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.18493	-1.0335	9	0.14656	T	0.56	2.2306	3.8667	0.09019	0.2994:0.4592:0.1306:0.1107	.	1035	Q9BYE9	CDHR2_HUMAN	N	1035	ENSP00000424565:T1035N;ENSP00000261944:T1035N;ENSP00000421078:T1035N	ENSP00000261944:T1035N	T	+	2	0	CDHR2	175949032	0.000000	0.05858	0.000000	0.03702	0.020000	0.10135	-0.113000	0.10774	-1.200000	0.02662	-0.408000	0.06270	ACC		0.652	CDHR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372201.1	NM_017675		6	111	1	0	0.00116845	0.217242	0.00129624	6	111					A	176016426	C	A	176016426	3	1	85	1	0	0	0	0	1	0	0	0	3119	507	18	5	3190	5	CDHR2	5	176016426	Missense_Mutation	SNP	C	TCGA-EJ-7317-01A-31D-2114-08	8596249	176016426	4898834	26	4394											
HIST1H2BN	8341	broad.mit.edu	37	chr6	27806651	27806651	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccttcgtcaatgacatctTcgagcgcatcgccggcgagg	7	9	11	14	6	2	1	1	1	1	0	6	3	3	1	2	2	1	1	2	2	1	2			TCGA-EJ-7317-01A-31D-2114-08	TCGA-EJ-7317-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	342033de-29bc-49af-b78f-f05d7e303b22	2c4f634f-c147-49c3-b5d3-77175dc269cb	g.chr6:27806651T>G	ENST00000396980.3	+	1	212	c.212T>G	c.(211-213)tTc>tGc	p.F71C	HIST1H2AK_ENST00000330180.2_5'Flank|HIST1H2BN_ENST00000606613.1_Missense_Mutation_p.F71C	NM_003520.3	NP_003511.1	Q99877	H2B1N_HUMAN	histone cluster 1, H2bn	71					chromatin organization (GO:0006325)|nucleosome assembly (GO:0006334)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			central_nervous_system(1)|endometrium(3)|lung(3)|prostate(1)	8						AATGACATCTTCGAGCGCATC	0.607																																						ENST00000606613.1																			0				central_nervous_system(1)|endometrium(3)|lung(3)|prostate(1)	8						c.(211-213)tTc>tGc		histone cluster 1, H2bn							160	148	152					6																	27806651		2203	4300	6503	SO:0001583	missense	8341				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr6:27806651T>G	Z83336	CCDS4633.1	6p22.1	2011-01-27	2006-10-11	2003-02-28	ENSG00000233822	ENSG00000233822		"Histones / Replication-dependent"	4749	protein-coding gene	gene with protein product		602801	"H2B histone family, member D", "histone 1, H2bn"	H2BFD		9439656, 12408966	Standard	NM_003520		Approved	H2B/d	uc003njv.3	Q99877	OTTHUMG00000016397	ENST00000396980.3:c.212T>G	6.37:g.27806651T>G	ENSP00000380177:p.Phe71Cys					HIST1H2BN_ENST00000396980.3_Missense_Mutation_p.F71C	p.F71C			Q99877	H2B1N_HUMAN			1	273	+			71					B2R5L4|Q494S8|Q96FB7	Missense_Mutation	SNP	ENST00000396980.3	37	c.212T>G	CCDS4633.1	.	.	.	.	.	.	.	.	.	.	.	17.06	3.293229	0.60086	.	.	ENSG00000233822	ENST00000449538;ENST00000396980	T;T	0.70282	-0.47;-0.47	4.71	3.57	0.40892	Histone-fold (2);Histone core (1);	0.000000	0.32204	U	0.006433	D	0.86847	0.6031	H	0.98818	4.34	0.32050	N	0.597031	D;D	0.89917	1.0;1.0	D;D	0.87578	0.996;0.998	D	0.86101	0.1556	10	0.87932	D	0	.	9.5472	0.39288	0.0:0.0854:0.0:0.9146	.	71;71	Q99877;B2R4S9	H2B1N_HUMAN;.	C	71	ENSP00000446031:F71C;ENSP00000380177:F71C	ENSP00000380177:F71C	F	+	2	0	HIST1H2BN	27914630	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	7.514000	0.81750	2.052000	0.61016	0.529000	0.55759	TTC		0.607	HIST1H2BN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043840.2	NM_003520		81	168	0	0	0	0.870114	0	81	168					G	27806651	T	G	27806651	3	3	85	1	0	0	0	0	1	0	0	0	7153	1783	62	5	214	5	HIST1H2BN	6	27806651	Missense_Mutation	SNP	T	TCGA-EJ-7317-01A-31D-2114-08		27806651	143308416	27	4395											
UST	10090	broad.mit.edu	37	chr6	149262511	149262511	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaatcttgtcggagaagcacGgatttaatttggtcacatca	12	12	10	7	2	3	1	2	0	1	1	4	4	3	2	0	3	1	1	0	3	3	4			TCGA-EJ-7317-01A-31D-2114-08	TCGA-EJ-7317-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	342033de-29bc-49af-b78f-f05d7e303b22	2c4f634f-c147-49c3-b5d3-77175dc269cb	g.chr6:149262511G>A	ENST00000367463.4	+	3	491	c.388G>A	c.(388-390)Gga>Aga	p.G130R		NM_005715.2	NP_005706.1	Q9Y2C2	UST_HUMAN	uronyl-2-sulfotransferase	130					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glycosaminoglycan metabolic process (GO:0030203)|protein sulfation (GO:0006477)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	sulfotransferase activity (GO:0008146)			breast(1)|endometrium(3)|large_intestine(4)|lung(2)|ovary(2)	12		Ovarian(120;0.0907)		OV - Ovarian serous cystadenocarcinoma(155;1.78e-10)|GBM - Glioblastoma multiforme(68;0.138)		GGAGAAGCACGGATTTAATTT	0.433																																						ENST00000367463.4																			0				breast(1)|endometrium(3)|large_intestine(4)|lung(2)|ovary(2)	12						c.(388-390)Gga>Aga		uronyl-2-sulfotransferase							195	179	184					6																	149262511		2203	4300	6503	SO:0001583	missense	10090				protein sulfation	Golgi membrane|integral to membrane	sulfotransferase activity	g.chr6:149262511G>A	AB020316	CCDS5213.1	6q25.1	2008-02-05			ENSG00000111962	ENSG00000111962		"Sulfotransferases, membrane-bound"	17223	protein-coding gene	gene with protein product		610752				10187838	Standard	NM_005715		Approved	2OST	uc003qmg.3	Q9Y2C2	OTTHUMG00000016135	ENST00000367463.4:c.388G>A	6.37:g.149262511G>A	ENSP00000356433:p.Gly130Arg						p.G130R	NM_005715.2	NP_005706.1	Q9Y2C2	UST_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;1.78e-10)|GBM - Glioblastoma multiforme(68;0.138)	3	491	+		Ovarian(120;0.0907)	130					B2RCX6	Missense_Mutation	SNP	ENST00000367463.4	37	c.388G>A	CCDS5213.1	.	.	.	.	.	.	.	.	.	.	G	18.65	3.669523	0.67814	.	.	ENSG00000111962	ENST00000367463	T	0.47177	0.85	5.85	5.85	0.93711	.	0.109140	0.64402	D	0.000004	T	0.38746	0.1052	L	0.45285	1.41	0.54753	D	0.999988	P	0.39831	0.69	B	0.43889	0.435	T	0.09707	-1.0662	10	0.32370	T	0.25	-17.9166	20.1588	0.98128	0.0:0.0:1.0:0.0	.	130	Q9Y2C2	UST_HUMAN	R	130	ENSP00000356433:G130R	ENSP00000356433:G130R	G	+	1	0	UST	149304204	1.000000	0.71417	0.992000	0.48379	0.990000	0.78478	4.789000	0.62446	2.770000	0.95276	0.563000	0.77884	GGA		0.433	UST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043363.1	NM_005715		56	136	0	0	0	0.870114	0	56	136					A	149262511	G	A	149262511	3	1	85	1	0	0	0	0	1	0	0	0	17090	1117	39	2	398	2	UST	6	149262511	Missense_Mutation	SNP	G	TCGA-EJ-7317-01A-31D-2114-08	121455860	149262511	21852556	28	4396											
ZC3H12D	340152	broad.mit.edu	37	chr6	149773804	149773804	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggcttcggcttcctgctcagGaagttgctcagggagggtcc	5	10	15	11	1	2	0	2	0	0	0	5	2	4	2	2	5	2	5	2	5	1	3			TCGA-EJ-7317-01A-31D-2114-08	TCGA-EJ-7317-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	342033de-29bc-49af-b78f-f05d7e303b22	2c4f634f-c147-49c3-b5d3-77175dc269cb	g.chr6:149773804G>T	ENST00000409806.3	-	5	1053	c.735C>A	c.(733-735)ttC>ttA	p.F245L	ZC3H12D_ENST00000542614.1_Missense_Mutation_p.F245L|ZC3H12D_ENST00000416573.2_Missense_Mutation_p.F245L|ZC3H12D_ENST00000389942.5_Missense_Mutation_p.F245L			A2A288	ZC12D_HUMAN	zinc finger CCCH-type containing 12D	245					negative regulation of cell growth (GO:0030308)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|prostate(1)	6		Ovarian(120;0.0907)		OV - Ovarian serous cystadenocarcinoma(155;1.23e-11)|GBM - Glioblastoma multiforme(68;0.0921)		TCCTGCTCAGGAAGTTGCTCA	0.612																																						ENST00000389942.5																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|prostate(1)	6						c.(733-735)ttC>ttA		zinc finger CCCH-type containing 12D							35	41	39					6																	149773804		1914	4116	6030	SO:0001583	missense	340152					cytoplasm|nucleus	endonuclease activity|nucleic acid binding|zinc ion binding	g.chr6:149773804G>T			6q25.1	2012-07-05	2005-06-30	2005-06-30	ENSG00000178199	ENSG00000178199		"Zinc fingers, CCCH-type domain containing"	21175	protein-coding gene	gene with protein product	"MCP induced protein 4"	611106	"chromosome 6 open reading frame 95"	C6orf95		18178554	Standard	NM_207360		Approved	dJ281H8.1, MCPIP4	uc010kid.3	A2A288	OTTHUMG00000015786	ENST00000409806.3:c.735C>A	6.37:g.149773804G>T	ENSP00000386616:p.Phe245Leu					ZC3H12D_ENST00000542614.1_Missense_Mutation_p.F245L|ZC3H12D_ENST00000416573.2_Missense_Mutation_p.F245L|ZC3H12D_ENST00000409806.3_Missense_Mutation_p.F245L	p.F245L			A2A288	ZC12D_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;1.23e-11)|GBM - Glioblastoma multiforme(68;0.0921)	5	982	-		Ovarian(120;0.0907)	245					A1L178|B2RXF4|B7WNU7|B9ZZP9|B9ZZQ0|Q6ZRW2	Missense_Mutation	SNP	ENST00000409806.3	37	c.735C>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	22.1|22.1	4.249753|4.249753	0.80024|0.80024	.|.	.|.	ENSG00000178199|ENSG00000178199	ENST00000389942;ENST00000416573;ENST00000409806;ENST00000542614|ENST00000458251	T;T;T;T|.	0.44482|.	0.92;1.2;0.92;1.27|.	4.6|4.6	2.67|2.67	0.31697|0.31697	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.47210|0.47210	0.1433|0.1433	L|L	0.61036|0.61036	1.89|1.89	0.39714|0.39714	D|D	0.971373|0.971373	D;D|.	0.69078|.	0.997;0.997|.	D;D|.	0.75020|.	0.985;0.97|.	T|T	0.46830|0.46830	-0.9163|-0.9163	10|5	0.87932|.	D|.	0|.	-20.3148|-20.3148	7.5599|7.5599	0.27845|0.27845	0.3585:0.0:0.6415:0.0|0.3585:0.0:0.6415:0.0	.|.	245;245|.	A2A288;B7WNU7|.	ZC12D_HUMAN;.|.	L|T	245|87	ENSP00000374592:F245L;ENSP00000408686:F245L;ENSP00000386616:F245L;ENSP00000440813:F245L|.	ENSP00000374592:F245L|.	F|P	-|-	3|1	2|0	ZC3H12D|ZC3H12D	149815497|149815497	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.978000|0.978000	0.69477|0.69477	1.344000|1.344000	0.33941|0.33941	1.095000|1.095000	0.41419|0.41419	0.561000|0.561000	0.74099|0.74099	TTC|CCT		0.612	ZC3H12D-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000286400.2	NM_207360		4	15	1	0	0.0293803	0.248553	0.0316061	4	15					T	149773804	G	T	149773804	3	4	85	1	0	0	0	0	1	0	0	0	17561	1165	41	5	856	5	ZC3H12D	6	149773804	Missense_Mutation	SNP	G	TCGA-EJ-7317-01A-31D-2114-08	511293	149773804	21341263	29	4397											
TMEM139	135932	broad.mit.edu	37	chr7	142983609	142983609	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	agagttggaccaaccaccccCctacagcactgttgtgatac	11	8	8	14	0	0	2	0	1	0	1	0	3	0	3	5	1	4	3	5	1	3	4			TCGA-EJ-7317-01A-31D-2114-08	TCGA-EJ-7317-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	342033de-29bc-49af-b78f-f05d7e303b22	2c4f634f-c147-49c3-b5d3-77175dc269cb	g.chr7:142983609C>T	ENST00000359333.3	+	3	851	c.338C>T	c.(337-339)cCc>cTc	p.P113L	CASP2_ENST00000310447.5_5'Flank|TMEM139_ENST00000410004.1_Missense_Mutation_p.P113L|TMEM139_ENST00000409244.1_Missense_Mutation_p.P113L|CASP2_ENST00000392925.2_5'Flank|TMEM139_ENST00000471161.1_3'UTR|AC073342.12_ENST00000427392.1_RNA|TMEM139_ENST00000409102.1_Missense_Mutation_p.P113L|TMEM139_ENST00000409541.1_Missense_Mutation_p.P113L|AC073342.12_ENST00000446192.1_RNA	NM_001242775.2|NM_001282876.1|NM_001282877.1	NP_001229704.1|NP_001269805.1|NP_001269806.1	Q8IV31	TM139_HUMAN	transmembrane protein 139	113						integral component of membrane (GO:0016021)				endometrium(1)|lung(4)|ovary(1)|prostate(1)	7	Melanoma(164;0.059)					CAACCACCCCCCTACAGCACT	0.577																																						ENST00000359333.3																			0				endometrium(1)|lung(4)|ovary(1)|prostate(1)	7						c.(337-339)cCc>cTc		transmembrane protein 139							73	78	76					7																	142983609		2203	4300	6503	SO:0001583	missense	135932					integral to membrane		g.chr7:142983609C>T	AK075067	CCDS5878.1	7q34	2006-03-17			ENSG00000178826	ENSG00000178826			22058	protein-coding gene	gene with protein product							Standard	NM_153345		Approved	FLJ90586	uc003wck.4	Q8IV31	OTTHUMG00000152652	ENST00000359333.3:c.338C>T	7.37:g.142983609C>T	ENSP00000352284:p.Pro113Leu					TMEM139_ENST00000410004.1_Missense_Mutation_p.P113L|TMEM139_ENST00000471161.1_3'UTR|TMEM139_ENST00000409244.1_Missense_Mutation_p.P113L|TMEM139_ENST00000409541.1_Missense_Mutation_p.P113L|TMEM139_ENST00000409102.1_Missense_Mutation_p.P113L|AC073342.12_ENST00000446192.1_RNA|AC073342.12_ENST00000427392.1_RNA	p.P113L	NM_001242775.1	NP_001229704.1	Q8IV31	TM139_HUMAN			3	851	+	Melanoma(164;0.059)		113					B2RCL5|D3DXD4|Q6ZME2|Q8NC22|Q96AU8	Missense_Mutation	SNP	ENST00000359333.3	37	c.338C>T	CCDS5878.1	.	.	.	.	.	.	.	.	.	.	C	18.26	3.584833	0.65992	.	.	ENSG00000178826	ENST00000409102;ENST00000359333;ENST00000409244;ENST00000409541;ENST00000410004	.	.	.	5.1	5.1	0.69264	.	0.304164	0.29034	N	0.013348	T	0.66416	0.2787	L	0.46157	1.445	0.48452	D	0.99965	D	0.57257	0.979	P	0.59487	0.858	T	0.68689	-0.5342	9	0.72032	D	0.01	-4.26	14.4444	0.67340	0.0:1.0:0.0:0.0	.	113	Q8IV31	TM139_HUMAN	L	113	.	ENSP00000352284:P113L	P	+	2	0	TMEM139	142693731	0.729000	0.28090	0.978000	0.43139	0.533000	0.34776	3.769000	0.55303	2.567000	0.86603	0.558000	0.71614	CCC		0.577	TMEM139-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327145.1	NM_153345		50	100	0	0	0	0.870114	0	50	100					T	142983609	C	T	142983609	3	4	85	1	0	0	0	0	1	0	0	0	16051	623	22	3	344	3	TMEM139	7	142983609	Missense_Mutation	SNP	C	TCGA-EJ-7317-01A-31D-2114-08		142983609	16155054	30	4398											
GIMAP1	170575	broad.mit.edu	37	chr7	150417391	150417391	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacagatcctggctgtgaggAgagaggtcactgctacctgc	9	8	14	10	0	1	3	1	1	0	2	2	6	2	4	2	3	3	2	2	3	1	1			TCGA-EJ-7317-01A-31D-2114-08	TCGA-EJ-7317-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	342033de-29bc-49af-b78f-f05d7e303b22	2c4f634f-c147-49c3-b5d3-77175dc269cb	g.chr7:150417391A>C	ENST00000307194.5	+	3	439	c.299A>C	c.(298-300)gAg>gCg	p.E100A		NM_130759.3	NP_570115.1	Q8WWP7	GIMA1_HUMAN	GTPase, IMAP family member 1	100	AIG1-type G.				B cell differentiation (GO:0030183)|T cell differentiation (GO:0030217)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	GTP binding (GO:0005525)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	28			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GGCTGTGAGGAGAGAGGTCAC	0.647																																						ENST00000307194.5																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	28						c.(298-300)gAg>gCg		GTPase, IMAP family member 1							51	46	48					7																	150417391		2203	4300	6503	SO:0001583	missense	170575							g.chr7:150417391A>C	AJ306287	CCDS5906.1	7q36.1	2014-04-04			ENSG00000213203	ENSG00000213203		"GTPases, IMAP"	23237	protein-coding gene	gene with protein product	"immune-associated nucleotide-binding protein 2"	608084				15474311, 18701445	Standard	NM_130759		Approved	HIMAP1, IMAP38, IMAP1, IAN2		Q8WWP7	OTTHUMG00000157489	ENST00000307194.5:c.299A>C	7.37:g.150417391A>C	ENSP00000302833:p.Glu100Ala						p.E100A	NM_130759.3	NP_570115.1			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	3	439	+								B2RCI3|Q8NAZ0	Missense_Mutation	SNP	ENST00000307194.5	37	c.299A>C	CCDS5906.1	.	.	.	.	.	.	.	.	.	.	A	14.85	2.658249	0.47467	.	.	ENSG00000213203	ENST00000307194	T	0.08634	3.07	4.72	0.906	0.19314	AIG1 (1);	0.357678	0.24769	U	0.035755	T	0.18509	0.0444	M	0.88310	2.945	0.09310	N	1	P	0.38642	0.641	P	0.48488	0.579	T	0.10636	-1.0621	10	0.56958	D	0.05	.	3.07	0.06227	0.6256:0.0:0.1971:0.1773	.	100	Q8WWP7	GIMA1_HUMAN	A	100	ENSP00000302833:E100A	ENSP00000302833:E100A	E	+	2	0	GIMAP1	150048324	0.098000	0.21812	0.000000	0.03702	0.009000	0.06853	2.713000	0.47194	0.010000	0.14839	-0.290000	0.09829	GAG		0.647	GIMAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348951.2	NM_130759		8	70	0	0	0	0.307466	0	8	70					C	150417391	A	C	150417391	3	2	85	1	0	0	0	0	1	0	0	0	6379	304	11	5	305	5	GIMAP1	7	150417391	Missense_Mutation	SNP	A	TCGA-EJ-7317-01A-31D-2114-08	7433782	150417391	8721272	31	4399											
PDGFRL	5157	broad.mit.edu	37	chr8	17447026	17447026	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cgtccaaaagaaccaggagaGaatagaatcaaacctaccaa	20	4	7	10	1	1	3	1	0	0	3	2	5	2	4	4	1	3	0	4	1	9	2			TCGA-EJ-7317-01A-31D-2114-08	TCGA-EJ-7317-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	342033de-29bc-49af-b78f-f05d7e303b22	2c4f634f-c147-49c3-b5d3-77175dc269cb	g.chr8:17447026G>A	ENST00000541323.1	+	3	550	c.105G>A	c.(103-105)gaG>gaA	p.E35E	PDGFRL_ENST00000251630.6_Silent_p.E35E|PDGFRL_ENST00000398074.3_Silent_p.E35E	NM_006207.2	NP_006198.1	Q15198	PGFRL_HUMAN	platelet-derived growth factor receptor-like	35					G-protein coupled receptor signaling pathway (GO:0007186)|platelet-derived growth factor receptor-beta signaling pathway (GO:0035791)	extracellular region (GO:0005576)	platelet activating factor receptor activity (GO:0004992)|platelet-derived growth factor beta-receptor activity (GO:0005019)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(5)	9				Colorectal(111;0.0752)		AACCAGGAGAGAATAGAATCA	0.433																																						ENST00000541323.1																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(5)	9						c.(103-105)gaG>gaA		platelet-derived growth factor receptor-like							143	145	144					8																	17447026		2203	4300	6503	SO:0001819	synonymous_variant	5157					extracellular region	platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity	g.chr8:17447026G>A	D37965	CCDS6003.1	8p22-p21.3	2013-01-29			ENSG00000104213	ENSG00000104213		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	8805	protein-coding gene	gene with protein product		604584					Standard	NM_006207		Approved	PRLTS	uc003wxr.3	Q15198	OTTHUMG00000130818	ENST00000541323.1:c.105G>A	8.37:g.17447026G>A						PDGFRL_ENST00000251630.6_Silent_p.E35E|PDGFRL_ENST00000398074.3_Silent_p.E35E	p.E35E	NM_006207.2	NP_006198.1	Q15198	PGFRL_HUMAN		Colorectal(111;0.0752)	3	550	+			35					A8K085|Q6FH04	Silent	SNP	ENST00000541323.1	37	c.105G>A	CCDS6003.1																																																																																				0.433	PDGFRL-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253366.3	NM_006207		16	161	0	0	0	0.520397	0	16	161					A	17447026	G	A	17447026	2	1	85	1	0	0	0	0	0	0	0	1	11663	933	33	3		3	PDGFRL	8	17447026	Silent	SNP	G	TCGA-EJ-7317-01A-31D-2114-08		17447026	128916996	32	4400											
PRDM14	63978	broad.mit.edu	37	chr8	70978696	70978696	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacatccagttccccgtaccTccttttccatctataaagtg	9	13	5	14	1	1	0	0	0	1	0	5	1	5	0	6	0	1	2	6	0	4	6			TCGA-EJ-7317-01A-31D-2114-08	TCGA-EJ-7317-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	342033de-29bc-49af-b78f-f05d7e303b22	2c4f634f-c147-49c3-b5d3-77175dc269cb	g.chr8:70978696T>C	ENST00000276594.2	-	5	1158	c.957A>G	c.(955-957)ggA>ggG	p.G319G		NM_024504.3	NP_078780.1	Q9GZV8	PRD14_HUMAN	PR domain containing 14	319	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				cell fate specification (GO:0001708)|cell morphogenesis (GO:0000902)|fertilization (GO:0009566)|germ cell development (GO:0007281)|germ-line stem cell maintenance (GO:0030718)|histone H3-R26 methylation (GO:0034972)|homeostasis of number of cells within a tissue (GO:0048873)|inner cell mass cell fate commitment (GO:0001827)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|regulation of DNA methylation (GO:0044030)|regulation of gene expression, epigenetic (GO:0040029)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)			NS(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Breast(64;0.193)		Epithelial(68;0.00508)|all cancers(69;0.0259)|OV - Ovarian serous cystadenocarcinoma(28;0.0405)			TCCCCGTACCTCCTTTTCCAT	0.403																																					NSCLC(129;99 1813 5906 40656 46114)	ENST00000276594.2																			0				NS(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(955-957)ggA>ggG		PR domain containing 14							114	115	114					8																	70978696		2203	4300	6503	SO:0001819	synonymous_variant	63978				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr8:70978696T>C	AF319458	CCDS6206.1	8q13.3	2013-01-08			ENSG00000147596	ENSG00000147596		"Zinc fingers, C2H2-type"	14001	protein-coding gene	gene with protein product		611781					Standard	NM_024504		Approved		uc003xym.3	Q9GZV8	OTTHUMG00000150495	ENST00000276594.2:c.957A>G	8.37:g.70978696T>C							p.G319G	NM_024504.3	NP_078780.1	Q9GZV8	PRD14_HUMAN	Epithelial(68;0.00508)|all cancers(69;0.0259)|OV - Ovarian serous cystadenocarcinoma(28;0.0405)		5	1158	-	Breast(64;0.193)		319			SET.		Q86UX9	Silent	SNP	ENST00000276594.2	37	c.957A>G	CCDS6206.1																																																																																				0.403	PRDM14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318505.1			3	181	0	0	0	0.115264	0	3	181					C	70978696	T	C	70978696	2	2	85	1	0	0	0	0	0	0	0	1	12455	1538	54	4		4	PRDM14	8	70978696	Silent	SNP	T	TCGA-EJ-7317-01A-31D-2114-08	53531670	70978696	75385326	33	4401											
CSMD3	114788	broad.mit.edu	37	chr8	113249577	113249577	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gggcaaatacatcatcaggaActgtgaatagattaaatata	18	10	8	5	0	2	2	2	1	0	1	2	3	2	3	0	2	2	1	0	2	9	5			TCGA-EJ-7317-01A-31D-2114-08	TCGA-EJ-7317-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	342033de-29bc-49af-b78f-f05d7e303b22	2c4f634f-c147-49c3-b5d3-77175dc269cb	g.chr8:113249577A>G	ENST00000297405.5	-	67	10713	c.10469T>C	c.(10468-10470)gTt>gCt	p.V3490A	CSMD3_ENST00000455883.2_Splice_Site_p.V3321A|CSMD3_ENST00000343508.3_Splice_Site_p.V3450A|CSMD3_ENST00000352409.3_Splice_Site_p.V3420A	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3490						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						ATCATCAGGAACTGTGAATAG	0.284										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												ENST00000297405.5																			0				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						c.e67-1		CUB and Sushi multiple domains 3							95	90	92					8																	113249577		2203	4299	6502	SO:0001630	splice_region_variant	114788					integral to membrane|plasma membrane		g.chr8:113249577A>G	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.10469-1T>C	8.37:g.113249577A>G		HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_ENST00000455883.2_Splice_Site_p.V3321_splice|CSMD3_ENST00000352409.3_Splice_Site_p.V3420_splice|CSMD3_ENST00000343508.3_Splice_Site_p.V3450_splice	p.V3490_splice	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN			67	10713	-			3490					Q96PZ3	Splice_Site	SNP	ENST00000297405.5	37	c.10468_splice	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	A	11.36	1.614423	0.28712	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.34472	1.68;1.67;1.74;1.36;1.73	4.77	4.77	0.60923	.	0.088428	0.45126	D	0.000386	T	0.57710	0.2072	M	0.71206	2.165	0.49051	D	0.999746	D;D;B	0.67145	0.996;0.995;0.175	D;D;B	0.72625	0.941;0.978;0.084	T	0.59172	-0.7504	10	0.44086	T	0.13	.	14.4524	0.67394	1.0:0.0:0.0:0.0	.	3321;3490;3450	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	A	3450;3490;2760;3321;3420	ENSP00000345799:V3450A;ENSP00000297405:V3490A;ENSP00000341558:V2760A;ENSP00000412263:V3321A;ENSP00000343124:V3420A	ENSP00000297405:V3490A	V	-	2	0	CSMD3	113318753	1.000000	0.71417	1.000000	0.80357	0.203000	0.24098	9.109000	0.94291	1.996000	0.58369	0.383000	0.25322	GTT		0.284	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900	Missense_Mutation	5	43	0	0	0	0.217242	0	5	43					G	113249577	A	G	113249577	5	3	85	1	0	0	0	0	0	0	1	0	3946	57	2	4	674	4	CSMD3	8	113249577	Splice_Site	SNP	A	TCGA-EJ-7317-01A-31D-2114-08	42270881	113249577	33114445	34	4402											
TOPORS	10210	broad.mit.edu	37	chr9	32543932	32543932	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttgttcttctgttcacaggAccactaggtgaatacacaga	11	12	9	9	0	3	2	1	1	2	1	3	3	3	3	1	2	1	3	1	2	3	6	rs546261326		TCGA-EJ-7317-01A-31D-2114-08	TCGA-EJ-7317-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	342033de-29bc-49af-b78f-f05d7e303b22	2c4f634f-c147-49c3-b5d3-77175dc269cb	g.chr9:32543932A>C	ENST00000360538.2	-	3	707	c.591T>G	c.(589-591)ggT>ggG	p.G197G	TOPORS_ENST00000379858.1_Silent_p.G132G	NM_005802.4	NP_005793.2	Q9NS56	TOPRS_HUMAN	topoisomerase I binding, arginine/serine-rich, E3 ubiquitin protein ligase	197	Required for DNA-binding.				cellular response to DNA damage stimulus (GO:0006974)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|maintenance of protein location in nucleus (GO:0051457)|negative regulation of apoptotic process (GO:0043066)|photoreceptor cell outer segment organization (GO:0035845)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K48-linked ubiquitination (GO:0070936)|protein localization to nucleus (GO:0034504)|protein monoubiquitination (GO:0006513)|protein sumoylation (GO:0016925)|regulation of cell proliferation (GO:0042127)|retina layer formation (GO:0010842)|retinal cone cell development (GO:0046549)|retinal rod cell development (GO:0046548)|transcription, DNA-templated (GO:0006351)|ubiquitin-dependent protein catabolic process (GO:0006511)	centriole (GO:0005814)|ciliary basal body (GO:0036064)|gamma-tubulin complex (GO:0000930)|midbody (GO:0030496)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|photoreceptor connecting cilium (GO:0032391)|PML body (GO:0016605)|spindle pole (GO:0000922)|ubiquitin ligase complex (GO:0000151)	antigen binding (GO:0003823)|DNA binding (GO:0003677)|DNA topoisomerase binding (GO:0044547)|SUMO ligase activity (GO:0019789)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			large_intestine(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.0018)		TGTTCACAGGACCACTAGGTG	0.443																																						ENST00000360538.2																			0				large_intestine(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12						c.(589-591)ggT>ggG		topoisomerase I binding, arginine/serine-rich, E3 ubiquitin protein ligase							121	107	112					9																	32543932		2203	4300	6503	SO:0001819	synonymous_variant	10210				DNA damage response, signal transduction resulting in induction of apoptosis|maintenance of protein location in nucleus|proteasomal ubiquitin-dependent protein catabolic process|protein sumoylation|transcription, DNA-dependent	nuclear speck|PML body	antigen binding|DNA binding|DNA topoisomerase I binding|SUMO ligase activity|ubiquitin-protein ligase activity|zinc ion binding	g.chr9:32543932A>C	AF098300	CCDS6527.1, CCDS56566.1	9p21	2013-01-09	2010-09-17		ENSG00000197579	ENSG00000197579		"RING-type (C3HC4) zinc fingers"	21653	protein-coding gene	gene with protein product		609507	"retinitis pigmentosa 31 (autosomal dominant)", "topoisomerase I binding, arginine/serine-rich"	RP31		10352183, 12083797, 17924349	Standard	NM_005802		Approved	TP53BPL, LUN	uc003zrb.3	Q9NS56	OTTHUMG00000019743	ENST00000360538.2:c.591T>G	9.37:g.32543932A>C						TOPORS_ENST00000379858.1_Silent_p.G132G	p.G197G	NM_005802.4	NP_005793.2	Q9NS56	TOPRS_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.0018)	3	707	-			197			Required for DNA-binding.		O43273|Q6P987|Q9NS55|Q9UNR9	Silent	SNP	ENST00000360538.2	37	c.591T>G	CCDS6527.1																																																																																				0.443	TOPORS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052007.1	NM_005802		7	58	0	0	0	0.335167	0	7	58					C	32543932	A	C	32543932	2	2	85	1	0	0	0	0	0	0	0	1	16367	262	10	5		5	TOPORS	9	32543932	Silent	SNP	A	TCGA-EJ-7317-01A-31D-2114-08		32543932	108669499	35	4403											
PCDH15	65217	broad.mit.edu	37	chr10	55587260	55587260	+	Silent	SNP	G	G	C																															ggcactgctggtttagccgcGggtaatgcggcctgaattcg																										TCGA-EJ-7317-01A-31D-2114-08	TCGA-EJ-7317-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	342033de-29bc-49af-b78f-f05d7e303b22	2c4f634f-c147-49c3-b5d3-77175dc269cb	g.chr10:55587260G>C	ENST00000320301.6	-	32	4654	c.4260C>G	c.(4258-4260)ccC>ccG	p.P1420P	PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395432.2_Silent_p.P1380P|PCDH15_ENST00000414778.1_Silent_p.P1422P|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000395430.1_Silent_p.P1417P|PCDH15_ENST00000395438.1_Silent_p.P1420P|PCDH15_ENST00000395445.1_Silent_p.P1427P|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000373965.2_Silent_p.P1427P|PCDH15_ENST00000437009.1_Silent_p.P1349P|PCDH15_ENST00000409834.1_Silent_p.P1031P|PCDH15_ENST00000361849.3_Silent_p.P1420P|PCDH15_ENST00000395433.1_Silent_p.P1395P|PCDH15_ENST00000463095.1_5'UTR	NM_033056.3	NP_149045.3	Q96QU1	PCD15_HUMAN	protocadherin-related 15	1420					equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	calcium ion binding (GO:0005509)			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				GTTTAGCCGCGGGTAATGCGG	0.547										HNSCC(58;0.16)																												ENST00000373965.2																			0				NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237						c.(4279-4281)ccC>ccG		protocadherin-related 15							82	86	84					10																	55587260		2203	4300	6503	SO:0001819	synonymous_variant	65217				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding	g.chr10:55587260G>C	AY029205	CCDS7248.1, CCDS44400.1, CCDS44401.1, CCDS44403.1, CCDS44404.1, CCDS73134.1, CCDS73135.1, CCDS73136.1, CCDS73137.1, CCDS73138.1	10q21.1	2013-01-08	2010-01-25		ENSG00000150275	ENSG00000150275		"Cadherins / Cadherin-related"	14674	protein-coding gene	gene with protein product	"cadherin-related family member 15"	605514	"deafness, autosomal recessive 23", "protocadherin 15"	USH1F, DFNB23		11398101, 14570705	Standard	NM_033056		Approved	CDHR15	uc010qhy.1	Q96QU1	OTTHUMG00000018259	ENST00000320301.6:c.4260C>G	10.37:g.55587260G>C		HNSCC(58;0.16)				PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000437009.1_Silent_p.P1349P|PCDH15_ENST00000395433.1_Silent_p.P1395P|PCDH15_ENST00000414778.1_Silent_p.P1422P|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000395438.1_Silent_p.P1420P|PCDH15_ENST00000395432.2_Silent_p.P1380P|PCDH15_ENST00000320301.6_Silent_p.P1420P|PCDH15_ENST00000361849.3_Silent_p.P1420P|PCDH15_ENST00000395445.1_Silent_p.P1427P|PCDH15_ENST00000409834.1_Silent_p.P1031P|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395430.1_Silent_p.P1417P|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000395442.1_Intron	p.P1427P	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN			33	4675	-		Melanoma(3;0.117)|Lung SC(717;0.238)	1420					A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Silent	SNP	ENST00000320301.6	37	c.4281C>G	CCDS7248.1																																																																																				0.547	PCDH15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000048121.2	NM_033056		27	87	0	0	0	0.760397	0	27	87					C	55587260	G	C	55587260	2	2	85	1	0	0	0	0	0	0	0	1	11511	1103	39	5		5	PCDH15	10	55587260	Silent	SNP	G	TCGA-EJ-7317-01A-31D-2114-08		55587260	79947487	36	4404	26	2									
PCDH15	65217	broad.mit.edu	37	chr10	55587261	55587261	+	Missense_Mutation	SNP	G	G	T																															gcactgctggtttagccgcgGgtaatgcggcctgaattcgt																										TCGA-EJ-7317-01A-31D-2114-08	TCGA-EJ-7317-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	342033de-29bc-49af-b78f-f05d7e303b22	2c4f634f-c147-49c3-b5d3-77175dc269cb	g.chr10:55587261G>T	ENST00000320301.6	-	32	4653	c.4259C>A	c.(4258-4260)cCc>cAc	p.P1420H	PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395432.2_Missense_Mutation_p.P1380H|PCDH15_ENST00000414778.1_Missense_Mutation_p.P1422H|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000395430.1_Missense_Mutation_p.P1417H|PCDH15_ENST00000395438.1_Missense_Mutation_p.P1420H|PCDH15_ENST00000395445.1_Missense_Mutation_p.P1427H|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000373965.2_Missense_Mutation_p.P1427H|PCDH15_ENST00000437009.1_Missense_Mutation_p.P1349H|PCDH15_ENST00000409834.1_Missense_Mutation_p.P1031H|PCDH15_ENST00000361849.3_Missense_Mutation_p.P1420H|PCDH15_ENST00000395433.1_Missense_Mutation_p.P1395H|PCDH15_ENST00000463095.1_5'UTR	NM_033056.3	NP_149045.3	Q96QU1	PCD15_HUMAN	protocadherin-related 15	1420					equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	calcium ion binding (GO:0005509)			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				TTTAGCCGCGGGTAATGCGGC	0.547										HNSCC(58;0.16)																												ENST00000373965.2																			0				NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237						c.(4279-4281)cCc>cAc		protocadherin-related 15							83	87	85					10																	55587261		2203	4300	6503	SO:0001583	missense	65217				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding	g.chr10:55587261G>T	AY029205	CCDS7248.1, CCDS44400.1, CCDS44401.1, CCDS44403.1, CCDS44404.1, CCDS73134.1, CCDS73135.1, CCDS73136.1, CCDS73137.1, CCDS73138.1	10q21.1	2013-01-08	2010-01-25		ENSG00000150275	ENSG00000150275		"Cadherins / Cadherin-related"	14674	protein-coding gene	gene with protein product	"cadherin-related family member 15"	605514	"deafness, autosomal recessive 23", "protocadherin 15"	USH1F, DFNB23		11398101, 14570705	Standard	NM_033056		Approved	CDHR15	uc010qhy.1	Q96QU1	OTTHUMG00000018259	ENST00000320301.6:c.4259C>A	10.37:g.55587261G>T	ENSP00000322604:p.Pro1420His	HNSCC(58;0.16)				PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000437009.1_Missense_Mutation_p.P1349H|PCDH15_ENST00000395433.1_Missense_Mutation_p.P1395H|PCDH15_ENST00000414778.1_Missense_Mutation_p.P1422H|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000395438.1_Missense_Mutation_p.P1420H|PCDH15_ENST00000395432.2_Missense_Mutation_p.P1380H|PCDH15_ENST00000320301.6_Missense_Mutation_p.P1420H|PCDH15_ENST00000361849.3_Missense_Mutation_p.P1420H|PCDH15_ENST00000395445.1_Missense_Mutation_p.P1427H|PCDH15_ENST00000409834.1_Missense_Mutation_p.P1031H|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395430.1_Missense_Mutation_p.P1417H|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000395442.1_Intron	p.P1427H	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN			33	4674	-		Melanoma(3;0.117)|Lung SC(717;0.238)	1420					A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Missense_Mutation	SNP	ENST00000320301.6	37	c.4280C>A	CCDS7248.1	.	.	.	.	.	.	.	.	.	.	G	19.82	3.898039	0.72639	.	.	ENSG00000150275	ENST00000373965;ENST00000414778;ENST00000455746;ENST00000395438;ENST00000409834;ENST00000395445;ENST00000395432;ENST00000361849;ENST00000395433;ENST00000320301;ENST00000395430;ENST00000417177;ENST00000437009	T;T;T;T;T;T;T;T;T;T;D	0.81821	2.43;2.43;2.43;2.43;2.43;2.43;2.43;2.43;2.43;2.43;-1.54	5.5	5.5	0.81552	.	.	.	.	.	D	0.85186	0.5639	L	0.32530	0.975	0.58432	D	0.999999	D;D;D;D;D;D;D;D;D;D;D;D;D	0.89917	0.998;0.999;0.999;0.999;1.0;0.999;0.998;0.999;0.998;0.998;1.0;0.999;0.999	D;D;D;D;D;D;D;D;D;D;D;D;D	0.79784	0.95;0.95;0.95;0.95;0.993;0.95;0.95;0.94;0.935;0.935;0.959;0.968;0.95	D	0.86486	0.1794	9	0.87932	D	0	.	17.5349	0.87827	0.0:0.0:1.0:0.0	.	1395;1420;1420;1425;1349;1380;1417;1420;1427;1427;1420;1422;1420	A2A3E8;E7EMG4;A2A3E7;C9JIG1;E7EM53;E7EMG0;A2A3E6;A2A3E3;C6ZEF5;A2A3E2;C6ZEF7;C9J4F3;Q96QU1	.;.;.;.;.;.;.;.;.;.;.;.;PCD15_HUMAN	H	1427;1422;1420;1420;1031;1427;1380;1420;1395;1420;1417;1425;1349	ENSP00000363076:P1427H;ENSP00000410304:P1422H;ENSP00000378826:P1420H;ENSP00000386693:P1031H;ENSP00000378832:P1427H;ENSP00000378820:P1380H;ENSP00000354950:P1420H;ENSP00000378821:P1395H;ENSP00000322604:P1420H;ENSP00000378818:P1417H;ENSP00000412628:P1349H	ENSP00000322604:P1420H	P	-	2	0	PCDH15	55257267	1.000000	0.71417	0.071000	0.20095	0.417000	0.31264	8.670000	0.91168	2.739000	0.93911	0.491000	0.48974	CCC		0.547	PCDH15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000048121.2	NM_033056		28	85	1	0	6.00712e-18	0.760397	7.22891e-18	28	85					T	55587261	G	T	55587261	3	4	85	1	0	0	0	0	1	0	0	0	11511	1232	43	5	3235	5	PCDH15	10	55587261	Missense_Mutation	SNP	G	TCGA-EJ-7317-01A-31D-2114-08	1	55587261	79947486	37	4405	26	2									
C10orf79	80217	broad.mit.edu	37	chr10	105900659	105900659	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gatgagaattgcatcagaatActccagtactagctggaaat	15	10	9	7	0	1	2	1	1	0	2	2	5	2	3	1	1	4	3	1	1	6	4			TCGA-EJ-7317-01A-31D-2114-08	TCGA-EJ-7317-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	342033de-29bc-49af-b78f-f05d7e303b22	2c4f634f-c147-49c3-b5d3-77175dc269cb	g.chr10:105900659A>G	ENST00000357060.3	-	34	4487	c.4372T>C	c.(4372-4374)Tat>Cat	p.Y1458H	WDR96_ENST00000479392.1_5'UTR|WDR96_ENST00000428666.1_Missense_Mutation_p.Y1430H	NM_025145.5	NP_079421.5														NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(14)|lung(21)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						GCATCAGAATACTCCAGTACT	0.318																																						ENST00000357060.3																			0				NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(14)|lung(21)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						c.(4372-4374)Tat>Cat		WD repeat domain 96							86	83	84					10																	105900659		2203	4299	6502	SO:0001583	missense	80217							g.chr10:105900659A>G																												ENST00000357060.3:c.4372T>C	10.37:g.105900659A>G	ENSP00000349568:p.Tyr1458His					WDR96_ENST00000428666.1_Missense_Mutation_p.Y1430H|WDR96_ENST00000479392.1_5'UTR	p.Y1458H	NM_025145.5	NP_079421.5	Q8NDM7	WDR96_HUMAN			34	4487	-			1458						Missense_Mutation	SNP	ENST00000357060.3	37	c.4372T>C	CCDS31281.1	.	.	.	.	.	.	.	.	.	.	A	14.93	2.682901	0.47991	.	.	ENSG00000197748	ENST00000357060;ENST00000428666	T;T	0.18016	2.24;2.31	5.44	5.44	0.79542	.	0.136179	0.51477	D	0.000088	T	0.36552	0.0971	M	0.69823	2.125	0.20638	N	0.999875	P;D	0.64830	0.937;0.994	P;P	0.61132	0.71;0.884	T	0.21655	-1.0239	10	0.39692	T	0.17	.	13.7265	0.62761	1.0:0.0:0.0:0.0	.	1430;1458	G5E9L1;Q8NDM7	.;WDR96_HUMAN	H	1458;1430	ENSP00000349568:Y1458H;ENSP00000400289:Y1430H	ENSP00000349568:Y1458H	Y	-	1	0	WDR96	105890649	0.999000	0.42202	0.276000	0.24689	0.363000	0.29612	6.833000	0.75334	2.069000	0.61940	0.533000	0.62120	TAT		0.318	WDR96-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				12	29	0	0	0	0.457914	0	12	29					G	105900659	A	G	105900659	3	3	85	1	0	0	0	0	1	0	0	0	1618	391	14	4	645	4	C10orf79	10	105900659	Missense_Mutation	SNP	A	TCGA-EJ-7317-01A-31D-2114-08	50313398	105900659	29634088	38	4406											
ACCS	84680	broad.mit.edu	37	chr11	44100335	44100335	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tacctggtatttgccaagagGtgaggcaccccacactggcc	9	8	11	13	0	0	2	0	1	0	1	0	2	0	2	5	4	2	2	5	4	3	3			TCGA-EJ-7317-01A-31D-2114-08	TCGA-EJ-7317-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	342033de-29bc-49af-b78f-f05d7e303b22	2c4f634f-c147-49c3-b5d3-77175dc269cb	g.chr11:44100335G>T	ENST00000263776.8	+	9	1267		c.e9+1			NM_001127219.1|NM_032592.3	NP_001120691.1|NP_115981.1	Q96QU6	1A1L1_HUMAN	1-aminocyclopropane-1-carboxylate synthase homolog (Arabidopsis)(non-functional)						biosynthetic process (GO:0009058)		catalytic activity (GO:0003824)|protein homodimerization activity (GO:0042803)|pyridoxal phosphate binding (GO:0030170)	p.?(2)		breast(4)|endometrium(3)|large_intestine(11)|lung(15)|ovary(1)|skin(1)	35						TTGCCAAGAGGTGAGGCACCC	0.577																																					Esophageal Squamous(158;148 1889 8077 23160 41213)	ENST00000263776.8																			2	Unknown(2)	p.?(2)	lung(2)	breast(4)|endometrium(3)|large_intestine(11)|lung(15)|ovary(1)|skin(1)	35						c.e9+1		1-aminocyclopropane-1-carboxylate synthase homolog (Arabidopsis)(non-functional)							58	48	51					11																	44100335		2203	4300	6503	SO:0001630	splice_region_variant	84680						1-aminocyclopropane-1-carboxylate synthase activity|protein homodimerization activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups	g.chr11:44100335G>T	AY026508	CCDS7907.1	11p11	2008-03-12	2008-01-28		ENSG00000110455	ENSG00000110455			23989	protein-coding gene	gene with protein product		608405				11470512	Standard	NM_032592		Approved	PHACS, ACS	uc009yks.1	Q96QU6	OTTHUMG00000166427	ENST00000263776.8:c.833+1G>T	11.37:g.44100335G>T								NM_001127219.1|NM_032592.3	NP_001120691.1|NP_115981.1	Q96QU6	1A1L1_HUMAN			9	1267	+								B4E219|Q8WUL4|Q96LX5	Splice_Site	SNP	ENST00000263776.8	37		CCDS7907.1	.	.	.	.	.	.	.	.	.	.	G	23.6	4.431736	0.83776	.	.	ENSG00000110455	ENST00000263776	.	.	.	5.74	5.74	0.90152	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.679	0.88237	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ACCS	44056911	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	8.594000	0.90836	2.695000	0.91970	0.655000	0.94253	.		0.577	ACCS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389721.1	NM_032592	Intron	11	27	1	0	0.00136819	0.411799	0.00149449	11	27					T	44100335	G	T	44100335	5	4	85	1	0	0	0	0	0	0	1	0	133	1275	44	5	864	5	ACCS	11	44100335	Splice_Site	SNP	G	TCGA-EJ-7317-01A-31D-2114-08		44100335	90906181	39	4407											
SAPS3	55291	broad.mit.edu	37	chr11	68305256	68305256	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aggaatgtaaagctcagaacCgcaaacttatagagtttctg	15	10	9	7	1	2	2	1	0	1	2	2	3	2	3	1	1	3	4	1	1	7	4			TCGA-EJ-7317-01A-31D-2114-08	TCGA-EJ-7317-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	342033de-29bc-49af-b78f-f05d7e303b22	2c4f634f-c147-49c3-b5d3-77175dc269cb	g.chr11:68305256C>A	ENST00000393800.2	+	3	378	c.124C>A	c.(124-126)Cgc>Agc	p.R42S	PPP6R3_ENST00000529710.1_Missense_Mutation_p.R42S|PPP6R3_ENST00000265637.4_Missense_Mutation_p.R42S|PPP6R3_ENST00000393799.2_Missense_Mutation_p.R42S|PPP6R3_ENST00000393801.3_Missense_Mutation_p.R42S|PPP6R3_ENST00000524845.1_Missense_Mutation_p.R42S|PPP6R3_ENST00000524904.1_Missense_Mutation_p.R42S|PPP6R3_ENST00000527403.2_Missense_Mutation_p.R42S|PPP6R3_ENST00000534534.1_Intron|PPP6R3_ENST00000265636.5_Missense_Mutation_p.R42S	NM_001164161.1|NM_001164162.1|NM_001164163.1	NP_001157633.1|NP_001157634.1|NP_001157635.1	Q5H9R7	PP6R3_HUMAN	protein phosphatase 6, regulatory subunit 3	42					regulation of phosphoprotein phosphatase activity (GO:0043666)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein phosphatase binding (GO:0019903)			breast(2)|endometrium(6)|kidney(3)|large_intestine(10)|liver(2)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						AGCTCAGAACCGCAAACTTAT	0.368																																						ENST00000393799.2																			0				breast(2)|endometrium(6)|kidney(3)|large_intestine(10)|liver(2)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						c.(124-126)Cgc>Agc		protein phosphatase 6, regulatory subunit 3							96	92	94					11																	68305256		2200	4294	6494	SO:0001583	missense	55291				regulation of phosphoprotein phosphatase activity	cytoplasm|nucleus	protein phosphatase binding	g.chr11:68305256C>A	AF264779	CCDS8182.1, CCDS53671.1, CCDS53672.1, CCDS53673.1, CCDS53674.1, CCDS53675.1	11q13	2012-04-17	2010-06-28	2010-06-28	ENSG00000110075	ENSG00000110075		"Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits"	1173	protein-coding gene	gene with protein product	"sporulation-induced transcript 4-associated protein"	610879	"chromosome 11 open reading frame 23", "SAPS domain family, member 3"	C11orf23, SAPS3		11401438, 16769727	Standard	NM_018312		Approved	SAPLa, DKFZp781E2374, DKFZp781O2362, DKFZp781E17107, SAP190, SAPL, PP6R3, FLJ11058, FLJ43065, KIAA1558, MGC125711, MGC125712	uc001onv.3	Q5H9R7		ENST00000393800.2:c.124C>A	11.37:g.68305256C>A	ENSP00000377389:p.Arg42Ser					PPP6R3_ENST00000265637.4_Missense_Mutation_p.R42S|PPP6R3_ENST00000393801.3_Missense_Mutation_p.R42S|PPP6R3_ENST00000393800.2_Missense_Mutation_p.R42S|PPP6R3_ENST00000265636.5_Missense_Mutation_p.R42S|PPP6R3_ENST00000527403.2_Missense_Mutation_p.R42S|PPP6R3_ENST00000524904.1_Missense_Mutation_p.R42S|PPP6R3_ENST00000534534.1_Intron|PPP6R3_ENST00000529710.1_Missense_Mutation_p.R42S|PPP6R3_ENST00000524845.1_Missense_Mutation_p.R42S	p.R42S			Q5H9R7	PP6R3_HUMAN			3	391	+			42					Q3B7I1|Q3I4Y0|Q3KR35|Q68CR3|Q7L4R8|Q8N3B2|Q96MB2|Q9H2K5|Q9H2K6|Q9HCL4|Q9NUY3	Missense_Mutation	SNP	ENST00000393800.2	37	c.124C>A	CCDS53672.1	.	.	.	.	.	.	.	.	.	.	C	29.8	5.039389	0.93630	.	.	ENSG00000110075	ENST00000393799;ENST00000393800;ENST00000529344;ENST00000524845;ENST00000265637;ENST00000524904;ENST00000393801;ENST00000265636;ENST00000529710;ENST00000527403;ENST00000531244	T;T;T;T;T;T;T;T;T;T;T	0.49432	0.78;0.78;0.78;0.78;0.78;0.78;0.78;0.78;0.78;0.78;0.78	5.08	5.08	0.68730	.	0.048468	0.85682	D	0.000000	T	0.57592	0.2064	L	0.39085	1.19	0.80722	D	1	P;P;P;P;D;D	0.67145	0.947;0.767;0.862;0.784;0.973;0.996	P;P;P;B;P;D	0.63192	0.84;0.544;0.82;0.406;0.619;0.912	T	0.52917	-0.8511	9	.	.	.	.	18.6681	0.91499	0.0:1.0:0.0:0.0	.	42;42;42;42;42;42	Q5H9R7-3;Q5H9R7-6;Q5H9R7-2;Q5H9R7;Q5H9R7-5;Q5H9R7-4	.;.;.;PP6R3_HUMAN;.;.	S	42	ENSP00000377388:R42S;ENSP00000377389:R42S;ENSP00000433551:R42S;ENSP00000431415:R42S;ENSP00000265637:R42S;ENSP00000433058:R42S;ENSP00000377390:R42S;ENSP00000265636:R42S;ENSP00000437329:R42S;ENSP00000433565:R42S;ENSP00000432837:R42S	.	R	+	1	0	PPP6R3	68061832	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.710000	0.84655	2.654000	0.90174	0.563000	0.77884	CGC		0.368	PPP6R3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395275.1	NM_018312		3	58	1	0	0.115264	0.115264	0.122145	3	58					A	68305256	C	A	68305256	3	1	85	1	0	0	0	0	1	0	0	0	13838	652	23	5	126	5	SAPS3	11	68305256	Missense_Mutation	SNP	C	TCGA-EJ-7317-01A-31D-2114-08	24204921	68305256	66701260	40	4408											
KRT78	196374	broad.mit.edu	37	chr12	53238345	53238345	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccccccaggtcccaccacctTggtctggtacaaggcctcag	7	7	9	18	0	2	0	1	0	1	0	3	0	3	0	7	4	1	1	7	4	2	2			TCGA-EJ-7317-01A-31D-2114-08	TCGA-EJ-7317-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	342033de-29bc-49af-b78f-f05d7e303b22	2c4f634f-c147-49c3-b5d3-77175dc269cb	g.chr12:53238345T>G	ENST00000304620.4	-	5	982	c.919A>C	c.(919-921)Aag>Cag	p.K307Q	KRT78_ENST00000359499.4_Missense_Mutation_p.K197Q	NM_173352.2	NP_775487.2	Q8N1N4	K2C78_HUMAN	keratin 78	307	Coil 2.|Rod.					extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	18						CCCACCACCTTGGTCTGGTAC	0.617																																						ENST00000359499.4																			0				endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	18						c.(589-591)Aag>Cag		keratin 78							114	90	98					12																	53238345		2203	4300	6503	SO:0001583	missense	196374					keratin filament	protein binding|structural molecule activity	g.chr12:53238345T>G	AK096419	CCDS8840.1, CCDS73473.1	12q13.13	2013-06-25			ENSG00000170423	ENSG00000170423		"-", "Intermediate filaments type II, keratins (basic)"	28926	protein-coding gene	gene with protein product		611159				16831889	Standard	XM_005268695		Approved	K5B	uc001sbc.1	Q8N1N4	OTTHUMG00000169880	ENST00000304620.4:c.919A>C	12.37:g.53238345T>G	ENSP00000306261:p.Lys307Gln					KRT78_ENST00000304620.4_Missense_Mutation_p.K307Q	p.K197Q			Q8N1N4	K2C78_HUMAN			5	600	-			307			Coil 1B.|Rod.		A8K4D6|Q5HYM7|Q7RTT2	Missense_Mutation	SNP	ENST00000304620.4	37	c.589A>C	CCDS8840.1	.	.	.	.	.	.	.	.	.	.	T	16.19	3.052793	0.55218	.	.	ENSG00000170423	ENST00000359499;ENST00000304620;ENST00000539860	D;D	0.90732	-2.72;-2.72	5.07	3.91	0.45181	Filament (1);	.	.	.	.	D	0.92506	0.7620	M	0.78637	2.42	0.31897	N	0.616503	P	0.48834	0.916	P	0.51974	0.686	D	0.91999	0.5609	9	0.66056	D	0.02	.	10.0599	0.42268	0.0:0.0:0.1693:0.8307	.	307	Q8N1N4	K2C78_HUMAN	Q	197;307;78	ENSP00000352479:K197Q;ENSP00000306261:K307Q	ENSP00000306261:K307Q	K	-	1	0	KRT78	51524612	0.994000	0.37717	0.997000	0.53966	0.107000	0.19398	2.292000	0.43549	0.857000	0.35407	0.460000	0.39030	AAG		0.617	KRT78-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406380.1	NM_173352		35	111	0	0	0	0.853193	0	35	111					G	53238345	T	G	53238345	3	3	85	1	0	0	0	0	1	0	0	0	8491	1821	63	5	663	5	KRT78	12	53238345	Missense_Mutation	SNP	T	TCGA-EJ-7317-01A-31D-2114-08		53238345	80613550	41	4409											
GIT2	9815	broad.mit.edu	37	chr12	110383093	110383093	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cgctttcgtccctcgaccagGaaagtgtggaggggaaggaa	10	7	15	9	3	0	0	0	0	0	0	3	5	1	4	2	5	0	1	2	5	3	1			TCGA-EJ-7317-01A-31D-2114-08	TCGA-EJ-7317-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	342033de-29bc-49af-b78f-f05d7e303b22	2c4f634f-c147-49c3-b5d3-77175dc269cb	g.chr12:110383093G>T	ENST00000355312.3	-	16	1702	c.1703C>A	c.(1702-1704)tCc>tAc	p.S568Y	GIT2_ENST00000553118.1_Intron|GIT2_ENST00000361006.5_Intron|GIT2_ENST00000338373.5_Missense_Mutation_p.S470Y|GIT2_ENST00000354574.4_Intron|GIT2_ENST00000356259.4_Intron|TCHP_ENST00000550780.1_Intron|GIT2_ENST00000551209.1_Missense_Mutation_p.S517Y|GIT2_ENST00000343646.5_Intron|GIT2_ENST00000457474.2_Intron|GIT2_ENST00000360185.4_Missense_Mutation_p.S518Y	NM_057169.3	NP_476510.1	Q14161	GIT2_HUMAN	G protein-coupled receptor kinase interacting ArfGAP 2	568					behavioral response to pain (GO:0048266)|regulation of ARF GTPase activity (GO:0032312)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	focal adhesion (GO:0005925)|nucleoplasm (GO:0005654)	ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(8)|skin(4)	27						CCTCGACCAGGAAAGTGTGGA	0.547																																						ENST00000360185.4																			0				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(8)|skin(4)	27						c.(1552-1554)tCc>tAc		G protein-coupled receptor kinase interacting ArfGAP 2							63	58	60					12																	110383093		2203	4300	6503	SO:0001583	missense	9815				regulation of ARF GTPase activity|regulation of G-protein coupled receptor protein signaling pathway	nucleoplasm	ARF GTPase activator activity|protein binding|zinc ion binding	g.chr12:110383093G>T	AF124491	CCDS9138.1, CCDS9139.1, CCDS44968.1, CCDS44969.1, CCDS55884.1	12q24.1	2013-01-10	2008-09-05			ENSG00000139436		"ADP-ribosylation factor GTPase activating proteins", "Ankyrin repeat domain containing"	4273	protein-coding gene	gene with protein product		608564	"G protein-coupled receptor kinase interactor 2"			9826657, 10896954	Standard	NM_139201		Approved	KIAA0148	uc001tps.2	Q14161	OTTHUMG00000169313	ENST00000355312.3:c.1703C>A	12.37:g.110383093G>T	ENSP00000347464:p.Ser568Tyr					GIT2_ENST00000457474.2_Intron|GIT2_ENST00000355312.3_Missense_Mutation_p.S568Y|GIT2_ENST00000354574.4_Intron|GIT2_ENST00000551209.1_Missense_Mutation_p.S517Y|TCHP_ENST00000550780.1_Intron|GIT2_ENST00000343646.5_Intron|GIT2_ENST00000553118.1_Intron|GIT2_ENST00000361006.5_Intron|GIT2_ENST00000338373.5_Missense_Mutation_p.S470Y|GIT2_ENST00000356259.4_Intron	p.S518Y			Q14161	GIT2_HUMAN			15	1717	-			568					Q86U59|Q96CI2|Q9BV91|Q9Y5V2	Missense_Mutation	SNP	ENST00000355312.3	37	c.1553C>A	CCDS9138.1	.	.	.	.	.	.	.	.	.	.	G	11.98	1.801988	0.31869	.	.	ENSG00000139436	ENST00000355312;ENST00000360185;ENST00000338373;ENST00000551209	T;T;T;T	0.74315	-0.74;-0.8;-0.64;-0.83	5.82	4.91	0.64330	.	0.100313	0.64402	D	0.000001	T	0.69052	0.3068	L	0.34521	1.04	0.80722	D	1	B	0.33477	0.413	B	0.38296	0.27	T	0.69628	-0.5094	10	0.51188	T	0.08	.	15.8711	0.79119	0.0:0.1357:0.8643:0.0	.	568	Q14161	GIT2_HUMAN	Y	568;518;470;517	ENSP00000347464:S568Y;ENSP00000353312:S518Y;ENSP00000340342:S470Y;ENSP00000448832:S517Y	ENSP00000340342:S470Y	S	-	2	0	GIT2	108867476	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.412000	0.59787	1.421000	0.47157	0.655000	0.94253	TCC		0.547	GIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403407.1	NM_057169		14	25	1	0	4.7546e-09	0.500413	5.62628e-09	14	25					T	110383093	G	T	110383093	3	4	85	1	0	0	0	0	1	0	0	0	6397	1174	41	5	596	5	GIT2	12	110383093	Missense_Mutation	SNP	G	TCGA-EJ-7317-01A-31D-2114-08	57144748	110383093	23468802	42	4410											
WDR24	84219	broad.mit.edu	37	chr16	734790	734790	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acagtgggagctgccttccaGccacttcatgatgtgctgca	8	10	11	12	0	1	1	1	1	0	0	2	2	2	2	3	1	5	3	3	1	0	2	rs375205983		TCGA-EJ-7317-01A-31D-2114-08	TCGA-EJ-7317-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	342033de-29bc-49af-b78f-f05d7e303b22	2c4f634f-c147-49c3-b5d3-77175dc269cb	g.chr16:734790G>C	ENST00000248142.6	-	13	2706	c.2707C>G	c.(2707-2709)Ctg>Gtg	p.L903V	JMJD8_ENST00000454700.1_5'Flank|WDR24_ENST00000293883.4_Missense_Mutation_p.L773V|JMJD8_ENST00000293882.4_5'Flank|JMJD8_ENST00000412368.2_5'Flank|JMJD8_ENST00000562111.1_5'Flank|JMJD8_ENST00000609261.1_5'Flank|JMJD8_ENST00000562824.1_5'Flank			Q96S15	WDR24_HUMAN	WD repeat domain 24	903										breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|urinary_tract(3)	19		Hepatocellular(780;0.0218)				CTGCCTTCCAGCCACTTCATG	0.677																																						ENST00000293883.4																			0				breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|urinary_tract(3)	19						c.(2317-2319)Ctg>Gtg		WD repeat domain 24							18	15	16					16																	734790		2166	4265	6431	SO:0001583	missense	84219							g.chr16:734790G>C	AL136863	CCDS10420.1	16p13.3	2013-01-09			ENSG00000127580	ENSG00000127580		"WD repeat domain containing"	20852	protein-coding gene	gene with protein product			"chromosome 16 open reading frame 21"	C16orf21		11230166	Standard	NM_032259		Approved	DKFZp434F054, JFP7	uc002ciz.1	Q96S15	OTTHUMG00000090421	ENST00000248142.6:c.2707C>G	16.37:g.734790G>C	ENSP00000248142:p.Leu903Val					WDR24_ENST00000248142.6_Missense_Mutation_p.L903V	p.L773V	NM_032259.2	NP_115635.1	Q96S15	WDR24_HUMAN			9	3076	-		Hepatocellular(780;0.0218)	903					A2IDB8|D3DU59|Q96GC7|Q9H0B7	Missense_Mutation	SNP	ENST00000248142.6	37	c.2317C>G		.	.	.	.	.	.	.	.	.	.	g	8.938	0.965087	0.18583	.	.	ENSG00000127580	ENST00000248142;ENST00000293883	T;T	0.77229	-1.08;0.32	4.77	1.58	0.23477	.	0.000000	0.64402	D	0.000001	T	0.72993	0.3530	M	0.77486	2.375	0.49213	D	0.999763	P	0.45957	0.869	B	0.39068	0.289	T	0.70200	-0.4937	10	0.54805	T	0.06	-22.8641	8.1088	0.30903	0.3701:0.0:0.6299:0.0	.	773	Q96S15-2	.	V	903;773	ENSP00000248142:L903V;ENSP00000293883:L773V	ENSP00000248142:L903V	L	-	1	2	WDR24	674791	1.000000	0.71417	1.000000	0.80357	0.897000	0.52465	2.970000	0.49240	0.184000	0.20083	-0.435000	0.05868	CTG		0.677	WDR24-201	KNOWN	basic	protein_coding	protein_coding		NM_032259		3	9	0	0	0	0.115264	0	3	9					C	734790	G	C	734790	3	2	85	1	0	0	0	0	1	0	0	0	17278	962	34	5	59	5	WDR24	16	734790	Missense_Mutation	SNP	G	TCGA-EJ-7317-01A-31D-2114-08		734790	89619963	43	4411											
ADCY9	115	broad.mit.edu	37	chr16	4042212	4042212	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cggatgttcttgaacctcagCggaaggagagccgactggtc	9	8	14	10	3	2	2	1	1	1	1	3	6	2	4	2	4	3	1	2	4	2	2			TCGA-EJ-7317-01A-31D-2114-08	TCGA-EJ-7317-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	342033de-29bc-49af-b78f-f05d7e303b22	2c4f634f-c147-49c3-b5d3-77175dc269cb	g.chr16:4042212C>T	ENST00000294016.3	-	5	2680	c.2142G>A	c.(2140-2142)ccG>ccA	p.P714P	ADCY9_ENST00000571889.1_5'UTR	NM_001116.3	NP_001107.2	O60503	ADCY9_HUMAN	adenylate cyclase 9	714					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						TGAACCTCAGCGGAAGGAGAG	0.537																																						ENST00000294016.3																			0				breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						c.(2140-2142)ccG>ccA		adenylate cyclase 9							103	92	96					16																	4042212		2197	4300	6497	SO:0001819	synonymous_variant	115				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding	g.chr16:4042212C>T	AF036927	CCDS32382.1	16p13.3	2013-02-04				ENSG00000162104	4.6.1.1	"Adenylate cyclases"	240	protein-coding gene	gene with protein product		603302				9628827	Standard	NM_001116		Approved	AC9	uc002cvx.3	O60503		ENST00000294016.3:c.2142G>A	16.37:g.4042212C>T						ADCY9_ENST00000571889.1_5'UTR	p.P714P	NM_001116.3	NP_001107.2	O60503	ADCY9_HUMAN			5	2680	-			714					A7E2V5|A7E2X2|D3DUD1|O60273|Q4ZHT9|Q4ZIR5|Q9BWT4|Q9UGP2	Silent	SNP	ENST00000294016.3	37	c.2142G>A	CCDS32382.1																																																																																				0.537	ADCY9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438076.1			4	91	0	0	0	0.184627	0	4	91					T	4042212	C	T	4042212	2	4	85	1	0	0	0	0	0	0	0	1	301	755	27	1		1	ADCY9	16	4042212	Silent	SNP	C	TCGA-EJ-7317-01A-31D-2114-08	3307422	4042212	86312541	44	4412											
A2BP1	54715	broad.mit.edu	37	chr16	7703830	7703830	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cccgcagtgccaggcttcccGtatccagcagccaccgccgc	6	5	10	20	4	0	0	0	0	0	0	2	0	2	0	7	1	3	4	7	1	1	2			TCGA-EJ-7317-01A-31D-2114-08	TCGA-EJ-7317-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	342033de-29bc-49af-b78f-f05d7e303b22	2c4f634f-c147-49c3-b5d3-77175dc269cb	g.chr16:7703830G>A	ENST00000550418.1	+	12	1759	c.771G>A	c.(769-771)ccG>ccA	p.P257P	RBFOX1_ENST00000422070.4_Silent_p.P300P|RBFOX1_ENST00000535565.2_Silent_p.P214P|RBFOX1_ENST00000355637.4_Silent_p.P277P|RBFOX1_ENST00000340209.4_Silent_p.P262P|RBFOX1_ENST00000547338.1_Silent_p.P257P|RBFOX1_ENST00000311745.5_Silent_p.P277P|RBFOX1_ENST00000547372.1_Silent_p.P300P|RBFOX1_ENST00000553186.1_Silent_p.P230P|RBFOX1_ENST00000552089.1_Silent_p.P274P|RBFOX1_ENST00000436368.2_Silent_p.P277P	NM_018723.3	NP_061193.2	Q9NWB1	RFOX1_HUMAN	RNA binding protein, fox-1 homolog (C. elegans) 1	257					mRNA processing (GO:0006397)|neuromuscular process controlling balance (GO:0050885)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)|RNA transport (GO:0050658)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	nucleotide binding (GO:0000166)|protein C-terminus binding (GO:0008022)|RNA binding (GO:0003723)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|lung(17)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)	55						CAGGCTTCCCGTATCCAGCAG	0.701																																					Ovarian(157;934 2567 15163 39509)	ENST00000340209.4																			0				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|lung(17)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)	55						c.(784-786)ccG>ccA		RNA binding protein, fox-1 homolog (C. elegans) 1							14	18	17					16																	7703830		1823	3800	5623	SO:0001819	synonymous_variant	54715				mRNA processing|RNA splicing|RNA transport	nucleus|trans-Golgi network	nucleotide binding|protein C-terminus binding|RNA binding	g.chr16:7703830G>A	AF107203	CCDS10531.1, CCDS10532.1, CCDS45405.1, CCDS55983.1, CCDS55984.1	16p13.3	2013-02-12			ENSG00000078328	ENSG00000078328		"RNA binding motif (RRM) containing"	18222	protein-coding gene	gene with protein product	"ataxin 2-binding protein 1", "hexaribonucleotide binding protein 1"	605104				10814712, 16260614	Standard	NM_018723		Approved	A2BP1, FOX-1, HRNBP1	uc002cyy.2	Q9NWB1	OTTHUMG00000129551	ENST00000550418.1:c.771G>A	16.37:g.7703830G>A						RBFOX1_ENST00000547372.1_Silent_p.P300P|RBFOX1_ENST00000553186.1_Silent_p.P230P|RBFOX1_ENST00000535565.2_Silent_p.P214P|RBFOX1_ENST00000550418.1_Silent_p.P257P|RBFOX1_ENST00000552089.1_Silent_p.P274P|RBFOX1_ENST00000311745.5_Silent_p.P277P|RBFOX1_ENST00000436368.2_Silent_p.P277P|RBFOX1_ENST00000422070.4_Silent_p.P300P|RBFOX1_ENST00000547338.1_Silent_p.P257P|RBFOX1_ENST00000355637.4_Silent_p.P277P	p.P262P			Q9NWB1	RFOX1_HUMAN			9	1083	+			257					Q7Z7I7|Q8TAE3|Q8TAF2|Q8WYB2|Q9NS20	Silent	SNP	ENST00000550418.1	37	c.786G>A	CCDS55983.1																																																																																				0.701	RBFOX1-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000409492.2	NM_145891		4	47	0	0	0	0.217242	0	4	47					A	7703830	G	A	7703830	2	1	85	1	0	0	0	0	0	0	0	1	3	1132	40	1		1	A2BP1	16	7703830	Silent	SNP	G	TCGA-EJ-7317-01A-31D-2114-08	3661618	7703830	82650923	45	4413											
SEPHS2	22928	broad.mit.edu	37	chr16	30456028	30456028	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aattattggcagattatgaaTaacaaaggacacttcatttc	16	13	6	6	0	1	2	1	1	0	1	2	3	1	3	0	2	1	1	0	2	6	6			TCGA-EJ-7317-01A-31D-2114-08	TCGA-EJ-7317-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	342033de-29bc-49af-b78f-f05d7e303b22	2c4f634f-c147-49c3-b5d3-77175dc269cb	g.chr16:30456028T>C	ENST00000478753.2	-	1	1474	c.1021A>G	c.(1021-1023)Att>Gtt	p.I341V	SEPHS2_ENST00000500504.2_Missense_Mutation_p.I341V|SEPHS2_ENST00000542752.1_Missense_Mutation_p.I284V			Q99611	SPS2_HUMAN	selenophosphate synthetase 2	341					selenocysteine biosynthetic process (GO:0016260)		ATP binding (GO:0005524)|selenide, water dikinase activity (GO:0004756)			breast(3)|cervix(1)|kidney(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(1)	10						AGATTATGAATAACAAAGGAC	0.473																																					Esophageal Squamous(81;1142 1261 11202 24614 35697)	ENST00000478753.2																			0				breast(3)|cervix(1)|kidney(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(1)	10						c.(1021-1023)Att>Gtt		selenophosphate synthetase 2							84	78	80					16																	30456028		1900	4127	6027	SO:0001583	missense	22928				selenocysteine biosynthetic process		ATP binding|selenide, water dikinase activity	g.chr16:30456028T>C	BC002381		16p11.2	2013-02-15			ENSG00000179918	ENSG00000179918			19686	protein-coding gene	gene with protein product		606218				10608886	Standard	NM_012248		Approved	SPS2, SPS2b	uc021tgl.1	Q99611	OTTHUMG00000176988	ENST00000478753.2:c.1021A>G	16.37:g.30456028T>C	ENSP00000418669:p.Ile341Val					SEPHS2_ENST00000542752.1_Missense_Mutation_p.I284V|SEPHS2_ENST00000500504.2_Missense_Mutation_p.I341V	p.I341V			Q99611	SPS2_HUMAN			1	1474	-			341					Q9BUQ2	Missense_Mutation	SNP	ENST00000478753.2	37	c.1021A>G		.	.	.	.	.	.	.	.	.	.	T	15.15	2.748105	0.49257	.	.	ENSG00000179918	ENST00000478753;ENST00000542752;ENST00000418751;ENST00000500504	T;T;T	0.16897	2.31;2.31;2.31	4.75	3.64	0.41730	AIR synthase-related protein, C-terminal (2);	0.000000	0.85682	D	0.000000	T	0.34658	0.0905	M	0.64567	1.98	0.80722	D	1	D;P	0.65815	0.995;0.805	D;P	0.70935	0.971;0.608	T	0.03315	-1.1049	10	0.52906	T	0.07	-16.332	10.0363	0.42131	0.0:0.0:0.1699:0.8301	.	341;284	Q99611;F5H8F9	SPS2_HUMAN;.	V	341;284;292;341	ENSP00000418669:I341V;ENSP00000443601:I284V;ENSP00000426234:I341V	ENSP00000390233:I292V	I	-	1	0	SEPHS2	30363529	1.000000	0.71417	1.000000	0.80357	0.759000	0.43091	7.792000	0.85828	0.944000	0.37579	-0.316000	0.08728	ATT		0.473	SEPHS2-001	KNOWN	basic|seleno	protein_coding	protein_coding	OTTHUMT00000109640.11	NM_012248		4	64	0	0	0	0.150653	0	4	64					C	30456028	T	C	30456028	3	2	85	1	0	0	0	0	1	0	0	0	14055	1406	49	4	329	4	SEPHS2	16	30456028	Missense_Mutation	SNP	T	TCGA-EJ-7317-01A-31D-2114-08	22752198	30456028	59898725	46	4414											
ITGAL	3683	broad.mit.edu	37	chr16	30522404	30522404	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcagacctcctggaggacaaCtcagccactaccatcatccc	11	7	6	17	0	3	1	3	0	0	1	5	3	5	3	5	2	3	0	5	2	2	1			TCGA-EJ-7317-01A-31D-2114-08	TCGA-EJ-7317-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	342033de-29bc-49af-b78f-f05d7e303b22	2c4f634f-c147-49c3-b5d3-77175dc269cb	g.chr16:30522404C>G	ENST00000356798.6	+	24	2913	c.2733C>G	c.(2731-2733)aaC>aaG	p.N911K	ITGAL_ENST00000433423.2_Missense_Mutation_p.N145K|ITGAL_ENST00000358164.5_Missense_Mutation_p.N827K	NM_002209.2	NP_002200.2	P20701	ITAL_HUMAN	integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide)	911					activated T cell proliferation (GO:0050798)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|cellular component movement (GO:0006928)|extracellular matrix organization (GO:0030198)|heterophilic cell-cell adhesion (GO:0007157)|inflammatory response (GO:0006954)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of T cell proliferation (GO:0042102)|receptor clustering (GO:0043113)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell (GO:0002291)	cell surface (GO:0009986)|cell-cell junction (GO:0005911)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|integrin alphaL-beta2 complex (GO:0034687)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|ICAM-3 receptor activity (GO:0030369)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	76					Antithymocyte globulin(DB00098)|Efalizumab(DB00095)|Lovastatin(DB00227)	TGGAGGACAACTCAGCCACTA	0.567																																					NSCLC(110;1462 1641 3311 33990 49495)	ENST00000356798.6																			0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	76						c.(2731-2733)aaC>aaG		integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide)	Efalizumab(DB00095)						199	171	181					16																	30522404		2197	4300	6497	SO:0001583	missense	0				blood coagulation|heterophilic cell-cell adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell	integrin complex	cell adhesion molecule binding|receptor activity	g.chr16:30522404C>G		CCDS32433.1, CCDS45461.1	16p13.1-p11	2010-03-23				ENSG00000005844		"CD molecules", "Integrins"	6148	protein-coding gene	gene with protein product		153370		CD11A		3284962	Standard	NM_002209		Approved	LFA-1	uc002dyi.4	P20701		ENST00000356798.6:c.2733C>G	16.37:g.30522404C>G	ENSP00000349252:p.Asn911Lys					ITGAL_ENST00000433423.2_Missense_Mutation_p.N145K|ITGAL_ENST00000358164.5_Missense_Mutation_p.N827K	p.N911K	NM_002209.2	NP_002200.2	P20701	ITAL_HUMAN			24	2913	+			911					O43746|Q45H73|Q96HB1|Q9UBC8	Missense_Mutation	SNP	ENST00000356798.6	37	c.2733C>G	CCDS32433.1	.	.	.	.	.	.	.	.	.	.	C	12.36	1.914074	0.33815	.	.	ENSG00000005844	ENST00000356798;ENST00000358164;ENST00000433423	T;T;T	0.54866	0.55;0.55;0.55	5.0	0.192	0.15134	Integrin alpha-2 (1);	0.000000	0.56097	D	0.000033	T	0.65943	0.2740	M	0.76574	2.34	0.41032	D	0.985161	D;D;D	0.89917	1.0;1.0;0.996	D;D;D	0.97110	0.999;1.0;0.978	T	0.64931	-0.6291	10	0.66056	D	0.02	.	7.8746	0.29586	0.0:0.5844:0.0:0.4156	.	145;827;911	B4E021;Q96HB1;P20701	.;.;ITAL_HUMAN	K	911;827;145	ENSP00000349252:N911K;ENSP00000350886:N827K;ENSP00000409377:N145K	ENSP00000349252:N911K	N	+	3	2	ITGAL	30429905	0.061000	0.20836	0.362000	0.25862	0.292000	0.27327	0.079000	0.14782	0.169000	0.19679	0.555000	0.69702	AAC		0.567	ITGAL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434508.2			18	163	0	0	0	0.608945	0	18	163					G	30522404	C	G	30522404	3	3	85	1	0	0	0	0	1	0	0	0	7886	564	20	5	2827	5	ITGAL	16	30522404	Missense_Mutation	SNP	C	TCGA-EJ-7317-01A-31D-2114-08	66376	30522404	59832349	47	4415											
THAP11	57215	broad.mit.edu	37	chr16	67876808	67876808	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagcagcaacagcagcaacaGcagcagcagcagcaacagca	17	0	10	14	0	0	0	0	0	0	0	0	0	0	0	0	0	13	10	0	0	3	0			TCGA-EJ-7317-01A-31D-2114-08	TCGA-EJ-7317-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	342033de-29bc-49af-b78f-f05d7e303b22	2c4f634f-c147-49c3-b5d3-77175dc269cb	g.chr16:67876808G>A	ENST00000303596.1	+	1	596	c.351G>A	c.(349-351)caG>caA	p.Q117Q	CENPT_ENST00000562787.1_Intron	NM_020457.2	NP_065190.2	Q96EK4	THA11_HUMAN	THAP domain containing 11	117	Gln-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|urinary_tract(1)	8		Acute lymphoblastic leukemia(13;0.000299)|all_hematologic(13;0.0184)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00412)|Epithelial(162;0.018)|all cancers(182;0.118)		agcagcaacagcagcagcagc	0.667																																						ENST00000303596.1																			0				cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|urinary_tract(1)	8						c.(349-351)caG>caA		THAP domain containing 11							22	27	25					16																	67876808		1916	3809	5725	SO:0001819	synonymous_variant	57215				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|identical protein binding|metal ion binding	g.chr16:67876808G>A	AB015338	CCDS10847.1	16q22.1	2013-01-25			ENSG00000168286	ENSG00000168286		"THAP (C2CH-type zinc finger) domain containing"	23194	protein-coding gene	gene with protein product		609119				12575992, 8325628	Standard	NM_020457		Approved	HRIHFB2206, CTG-B45d, CTG-B43a	uc002euo.3	Q96EK4	OTTHUMG00000137546	ENST00000303596.1:c.351G>A	16.37:g.67876808G>A						CENPT_ENST00000562787.1_Intron	p.Q117Q	NM_020457.2	NP_065190.2	Q96EK4	THA11_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00412)|Epithelial(162;0.018)|all cancers(182;0.118)	1	596	+		Acute lymphoblastic leukemia(13;0.000299)|all_hematologic(13;0.0184)|Ovarian(137;0.0563)	117			Gln-rich.		A4UCT5|A8K002|O94795	Silent	SNP	ENST00000303596.1	37	c.351G>A	CCDS10847.1																																																																																				0.667	THAP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268879.1	NM_020457		3	62	0	0	0	0.115264	0	3	62					A	67876808	G	A	67876808	2	1	85	1	0	0	0	0	0	0	0	1	15840	962	34	3		3	THAP11	16	67876808	Silent	SNP	G	TCGA-EJ-7317-01A-31D-2114-08	37354404	67876808	22477945	48	4416											
PLCD3	113026	broad.mit.edu	37	chr17	43209630	43209630	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctgacccatcttcttcagcgCccgcagcccgggcctcttgg	4	9	10	18	3	4	1	1	1	3	0	4	1	4	1	4	2	2	1	4	2	0	3			TCGA-EJ-7317-01A-31D-2114-08	TCGA-EJ-7317-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	342033de-29bc-49af-b78f-f05d7e303b22	2c4f634f-c147-49c3-b5d3-77175dc269cb	g.chr17:43209630C>T	ENST00000322765.5	-	1	261	c.148G>A	c.(148-150)Gcg>Acg	p.A50T	ACBD4_ENST00000591859.1_5'Flank|PLCD3_ENST00000540511.1_5'UTR|ACBD4_ENST00000431281.1_5'Flank	NM_133373.3	NP_588614.1	Q8N3E9	PLCD3_HUMAN	phospholipase C, delta 3	50					angiogenesis (GO:0001525)|inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|labyrinthine layer blood vessel development (GO:0060716)|lipid catabolic process (GO:0016042)|regulation of cell proliferation (GO:0042127)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871)			breast(2)|endometrium(2)|large_intestine(3)|lung(5)|prostate(1)|stomach(2)|urinary_tract(2)	17						TTCTTCAGCGCCCGCAGCCCG	0.741																																						ENST00000322765.5																			0				breast(2)|endometrium(2)|large_intestine(3)|lung(5)|prostate(1)|stomach(2)|urinary_tract(2)	17						c.(148-150)Gcg>Acg		phospholipase C, delta 3	Phosphatidylserine(DB00144)						4	5	5					17																	43209630		1756	3941	5697	SO:0001583	missense	113026				intracellular signal transduction|lipid catabolic process	cleavage furrow|cytoplasm|membrane	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr17:43209630C>T	AC002117	CCDS74077.1	17q21	2012-04-20			ENSG00000161714	ENSG00000161714	3.1.4.11		9061	protein-coding gene	gene with protein product		608795				10702670, 9056492	Standard	NM_133373		Approved		uc002iib.3	Q8N3E9	OTTHUMG00000168029	ENST00000322765.5:c.148G>A	17.37:g.43209630C>T	ENSP00000313731:p.Ala50Thr					PLCD3_ENST00000540511.1_5'UTR	p.A50T	NM_133373.3	NP_588614.1	Q8N3E9	PLCD3_HUMAN			1	261	-			50					Q8TEC1|Q8TF37|Q96FL6	Missense_Mutation	SNP	ENST00000322765.5	37	c.148G>A		.	.	.	.	.	.	.	.	.	.	C	15.17	2.753774	0.49362	.	.	ENSG00000161714	ENST00000322765	T	0.19105	2.17	3.95	3.95	0.45737	.	2.000530	0.02902	U	0.135485	T	0.15003	0.0362	.	.	.	0.32758	N	0.505499	B	0.27498	0.18	B	0.24155	0.051	T	0.12708	-1.0537	9	0.14252	T	0.57	.	11.5011	0.50437	0.0:1.0:0.0:0.0	.	50	Q8N3E9	PLCD3_HUMAN	T	50	ENSP00000313731:A50T	ENSP00000313731:A50T	A	-	1	0	PLCD3	40565156	0.989000	0.36119	0.998000	0.56505	0.992000	0.81027	2.269000	0.43346	1.746000	0.51805	0.442000	0.29010	GCG		0.741	PLCD3-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_133373		3	14	0	0	0	0.184627	0	3	14					T	43209630	C	T	43209630	3	4	85	1	0	0	0	0	1	0	0	0	12032	739	26	3	2280	3	PLCD3	17	43209630	Missense_Mutation	SNP	C	TCGA-EJ-7317-01A-31D-2114-08		43209630	37985580	49	4417											
SH3GL1	6455	broad.mit.edu	37	chr19	4366548	4366548	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggccagcacttctgtcaccGccttgctggtgacatccacc	6	10	9	16	1	2	1	1	1	1	0	3	1	3	1	5	2	2	2	5	2	0	2			TCGA-EJ-7317-01A-31D-2114-08	TCGA-EJ-7317-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	342033de-29bc-49af-b78f-f05d7e303b22	2c4f634f-c147-49c3-b5d3-77175dc269cb	g.chr19:4366548G>A	ENST00000269886.3	-	3	315	c.137C>T	c.(136-138)gCg>gTg	p.A46V	AC007292.6_ENST00000594444.1_RNA|SH3GL1_ENST00000417295.2_Missense_Mutation_p.A46V|SH3GL1_ENST00000598564.1_Missense_Mutation_p.A46V	NM_003025.3	NP_003016.1	Q99961	SH3G1_HUMAN	SH3-domain GRB2-like 1	46	BAR. {ECO:0000255|PROSITE- ProRule:PRU00361}.				central nervous system development (GO:0007417)|endocytosis (GO:0006897)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|endosome (GO:0005768)|membrane (GO:0016020)	identical protein binding (GO:0042802)|lipid binding (GO:0008289)			NS(1)|endometrium(2)|kidney(16)|large_intestine(3)|lung(2)|ovary(2)	26				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0152)|STAD - Stomach adenocarcinoma(1328;0.182)		TTCTGTCACCGCCTTGCTGGT	0.642			T	MLL	AL																																NSCLC(94;1152 2133 30346 33362)	ENST00000269886.3				Dom	yes		19	19p13.3	6455	T	SH3-domain GRB2-like 1 (EEN)			L	MLL		AL		0				NS(1)|endometrium(2)|kidney(16)|large_intestine(3)|lung(2)|ovary(2)	26						c.(136-138)gCg>gTg		SH3-domain GRB2-like 1							56	47	50					19																	4366548		2203	4299	6502	SO:0001583	missense	6455				central nervous system development|endocytosis|signal transduction	early endosome membrane	lipid binding|protein binding	g.chr19:4366548G>A		CCDS32874.1, CCDS56076.1, CCDS59335.1	19p13.3	2008-07-22							10830	protein-coding gene	gene with protein product	"extra 11-19 leukemia fusion", "fusion partner of MLL", "SH3-containing Grb-2-like 1 protein", "SH3-containing protein EEN", "SH3 domain GRB2-like 1"	601768				9169142	Standard	NM_003025		Approved	SH3P8, SH3D2B, CNSA1, EEN, MGC111371	uc002maj.3	Q99961		ENST00000269886.3:c.137C>T	19.37:g.4366548G>A	ENSP00000269886:p.Ala46Val					SH3GL1_ENST00000598564.1_Missense_Mutation_p.A46V|SH3GL1_ENST00000417295.2_Missense_Mutation_p.A46V	p.A46V	NM_003025.3	NP_003016.1	Q99961	SH3G1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0152)|STAD - Stomach adenocarcinoma(1328;0.182)	3	315	-			46			BAR.		B4DRA1|E7EVZ4|M0QZV5|Q99668	Missense_Mutation	SNP	ENST00000269886.3	37	c.137C>T	CCDS32874.1	.	.	.	.	.	.	.	.	.	.	.	22.0	4.229541	0.79688	.	.	ENSG00000141985	ENST00000269886;ENST00000417295	T;T	0.30182	1.54;1.54	4.35	4.35	0.52113	BAR (3);	0.000000	0.85682	D	0.000000	T	0.40546	0.1121	L	0.48877	1.53	0.80722	D	1	P;D;D	0.76494	0.631;0.999;0.999	B;P;P	0.56960	0.27;0.81;0.81	T	0.11591	-1.0581	10	0.19590	T	0.45	-6.1248	15.4235	0.75031	0.0:0.0:1.0:0.0	.	46;46;46	E7EVZ4;Q6FGM0;Q99961	.;.;SH3G1_HUMAN	V	46	ENSP00000269886:A46V;ENSP00000404568:A46V	ENSP00000269886:A46V	A	-	2	0	SH3GL1	4317548	1.000000	0.71417	0.956000	0.39512	0.952000	0.60782	7.960000	0.87893	1.972000	0.57404	0.561000	0.74099	GCG		0.642	SH3GL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458302.1	NM_003025		3	26	0	0	0	0.115264	0	3	26					A	4366548	G	A	4366548	3	1	85	1	0	0	0	0	1	0	0	0	14250	1087	38	1	1001	1	SH3GL1	19	4366548	Missense_Mutation	SNP	G	TCGA-EJ-7317-01A-31D-2114-08		4366548	54762435	50	4418											
ZNF773	374928	broad.mit.edu	37	chr19	58017987	58017987	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcacacgggagagaagtcacAtaggagctccaaaagtaggg	15	5	13	8	1	2	1	2	0	0	1	3	4	3	3	1	3	1	2	1	3	5	2			TCGA-EJ-7317-01A-31D-2114-08	TCGA-EJ-7317-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	342033de-29bc-49af-b78f-f05d7e303b22	2c4f634f-c147-49c3-b5d3-77175dc269cb	g.chr19:58017987A>G	ENST00000282292.4	+	4	664	c.524A>G	c.(523-525)cAt>cGt	p.H175R	ZNF773_ENST00000593916.1_Intron|ZNF773_ENST00000598770.1_Missense_Mutation_p.H174R|ZNF773_ENST00000599847.1_Intron	NM_198542.1	NP_940944.1	Q6PK81	ZN773_HUMAN	zinc finger protein 773	175					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	22		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0254)		GAGAAGTCACATAGGAGCTCC	0.468																																						ENST00000282292.4																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	22						c.(523-525)cAt>cGt		zinc finger protein 773							46	47	47					19																	58017987		2203	4300	6503	SO:0001583	missense	374928				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58017987A>G	BC005167	CCDS33134.1	19q13.43	2013-01-08	2006-12-15	2006-12-15		ENSG00000152439		"Zinc fingers, C2H2-type", "-"	30487	protein-coding gene	gene with protein product			"zinc finger protein 419B"	ZNF419B		12477932	Standard	NM_198542		Approved	MGC4728	uc002qox.3	Q6PK81		ENST00000282292.4:c.524A>G	19.37:g.58017987A>G	ENSP00000282292:p.His175Arg					ZNF773_ENST00000599847.1_Intron|ZNF773_ENST00000593916.1_Intron|ZNF773_ENST00000598770.1_Missense_Mutation_p.H174R	p.H175R	NM_198542.1	NP_940944.1	Q6PK81	ZN773_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0254)	4	664	+		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)	175					Q96DL8	Missense_Mutation	SNP	ENST00000282292.4	37	c.524A>G	CCDS33134.1	.	.	.	.	.	.	.	.	.	.	A	5.615	0.298142	0.10622	.	.	ENSG00000152439	ENST00000282292	T	0.15603	2.41	1.81	0.72	0.18214	.	.	.	.	.	T	0.12092	0.0294	L	0.52573	1.65	0.09310	N	1	P;B	0.39282	0.666;0.294	B;B	0.33690	0.168;0.026	T	0.25398	-1.0133	9	0.87932	D	0	.	1.7732	0.03016	0.534:0.0:0.186:0.28	.	174;175	Q6PK81-2;Q6PK81	.;ZN773_HUMAN	R	175	ENSP00000282292:H175R	ENSP00000282292:H175R	H	+	2	0	ZNF773	62709799	0.000000	0.05858	0.003000	0.11579	0.126000	0.20510	-1.361000	0.02597	-0.003000	0.14444	0.260000	0.18958	CAT		0.468	ZNF773-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466475.1	NM_198542		7	16	0	0	0	0.335167	0	7	16					G	58017987	A	G	58017987	3	3	85	1	0	0	0	0	1	0	0	0	18143	217	8	4	538	4	ZNF773	19	58017987	Missense_Mutation	SNP	A	TCGA-EJ-7317-01A-31D-2114-08	53651439	58017987	1110996	51	4419											
PANK2	80025	broad.mit.edu	37	chr20	3893120	3893120	+	Frame_Shift_Del	DEL	T	T	-																															catagtcttggaggaggaacTttttttggtctctgctgtct																										TCGA-EJ-7317-01A-31D-2114-08	TCGA-EJ-7317-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	342033de-29bc-49af-b78f-f05d7e303b22	4a98a524-c610-4237-ae25-5e8fdf17d582	g.chr20:3893120delT	ENST00000316562.4	+	4	1257	c.1251delT	c.(1249-1251)actfs	p.T417fs	PANK2_ENST00000610179.1_Frame_Shift_Del_p.T294fs|PANK2_ENST00000497424.1_Frame_Shift_Del_p.T126fs|PANK2_ENST00000464452.1_3'UTR	NM_153638.2	NP_705902.2	Q9BZ23	PANK2_HUMAN	pantothenate kinase 2	417					aerobic respiration (GO:0009060)|cell death (GO:0008219)|coenzyme A biosynthetic process (GO:0015937)|coenzyme biosynthetic process (GO:0009108)|mitochondrion morphogenesis (GO:0070584)|pantothenate metabolic process (GO:0015939)|regulation of mitochondrial membrane potential (GO:0051881)|small molecule metabolic process (GO:0044281)|spermatid development (GO:0007286)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial intermembrane space (GO:0005758)	ATP binding (GO:0005524)|pantothenate kinase activity (GO:0004594)			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						GAGGAGGAACTTTTTTTGGTC	0.343																																						ENST00000497424.1																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						c.(376-378)acfs		pantothenate kinase 2							141	152	148					20																	3893120		2203	4300	6503	SO:0001589	frameshift_variant	80025				cell death|coenzyme A biosynthetic process|pantothenate metabolic process	mitochondrial intermembrane space|nucleus	ATP binding|pantothenate kinase activity|protein binding	g.chr20:3893120delT	AK021791	CCDS13071.2, CCDS13072.1	20p13	2008-07-31	2008-07-31	2002-09-06	ENSG00000125779	ENSG00000125779	2.7.1.33		15894	protein-coding gene	gene with protein product	"Hallervorden-Spatz syndrome"	606157	"neurodegeneration with brain iron accumulation 1 (Hallervorden-Spatz syndrome)"	C20orf48, NBIA1		8944032, 11479594	Standard	XM_005260835		Approved	HSS, FLJ11729, PKAN, HARP	uc002wkc.3	Q9BZ23	OTTHUMG00000031768	ENST00000316562.4:c.1251delT	20.37:g.3893120delT	ENSP00000313377:p.Thr417fs					PANK2_ENST00000316562.4_Frame_Shift_Del_p.T417fs|PANK2_ENST00000336066.3_3'UTR	p.T126fs	NM_024960.4|NM_153640.2	NP_079236.3|NP_705904.1	Q9BZ23	PANK2_HUMAN			4	689	+			417		G -> A (in dbSNP:rs3737084).			B1AK33|B2Z3X0|D3DVZ0|Q5T7I2|Q5T7I4|Q7RTX5|Q8N7Q4|Q8TCR5|Q9BYW5|Q9HAF2	Frame_Shift_Del	DEL	ENST00000316562.4	37	c.378delT	CCDS13071.2																																																																																				0.343	PANK2-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000077793.2	NM_024960		7	241						7	241	---	---	---	---	-	3893120	T	-	3893120	7	5	85	1	0	1	0	1	0	0	0	0	11417	1596	56	0	1265	0	PANK2	20	3893120	Frame_Shift_Del	DEL	T	TCGA-EJ-7317-01A-31D-2114-08		3893120	59132400	52	4420											
WISP2	8839	broad.mit.edu	37	chr20	43355879	43355879	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctgccgactggagacccaGcgccgcctgtgcctgtccag	5	8	12	16	3	1	1	0	0	1	1	2	3	2	1	6	1	3	0	6	1	0	1			TCGA-EJ-7317-01A-31D-2114-08	TCGA-EJ-7317-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	342033de-29bc-49af-b78f-f05d7e303b22	2c4f634f-c147-49c3-b5d3-77175dc269cb	g.chr20:43355879G>A	ENST00000372868.2	+	5	1027	c.684G>A	c.(682-684)caG>caA	p.Q228Q	RP11-445H22.4_ENST00000427598.1_RNA|RP11-445H22.4_ENST00000427303.1_RNA|WISP2_ENST00000471629.1_3'UTR|WISP2_ENST00000190983.4_Silent_p.Q228Q|WISP2_ENST00000372865.4_Missense_Mutation_p.S146N|RP11-445H22.4_ENST00000445420.1_RNA			O76076	WISP2_HUMAN	WNT1 inducible signaling pathway protein 2	228	TSP type-1. {ECO:0000255|PROSITE- ProRule:PRU00210}.				cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|regulation of cell growth (GO:0001558)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)				skin(1)	1		Myeloproliferative disorder(115;0.0122)				TGGAGACCCAGCGCCGCCTGT	0.672																																						ENST00000372865.4																			0				skin(1)	1						c.(436-438)aGc>aAc		WNT1 inducible signaling pathway protein 2							31	33	32					20																	43355879		2203	4300	6503	SO:0001819	synonymous_variant	8839				cell adhesion|cell-cell signaling|signal transduction	extracellular region|soluble fraction	insulin-like growth factor binding	g.chr20:43355879G>A	AF100780	CCDS13336.1	20q13.12	2007-05-14			ENSG00000064205	ENSG00000064205			12770	protein-coding gene	gene with protein product		603399				9843955	Standard	NM_003881		Approved	CT58, CTGF-L, CCN5	uc002xmp.3	O76076	OTTHUMG00000033071	ENST00000372868.2:c.684G>A	20.37:g.43355879G>A						RP11-445H22.4_ENST00000445420.1_RNA|RP11-445H22.4_ENST00000427303.1_RNA|RP11-445H22.4_ENST00000427598.1_RNA|WISP2_ENST00000471629.1_3'UTR|WISP2_ENST00000372868.2_Silent_p.Q228Q|WISP2_ENST00000190983.4_Silent_p.Q228Q	p.S146N			O76076	WISP2_HUMAN			3	945	+		Myeloproliferative disorder(115;0.0122)	142			VWFC.		B2R9N4|E1P612|Q6PEG3	Missense_Mutation	SNP	ENST00000372868.2	37	c.437G>A	CCDS13336.1	.	.	.	.	.	.	.	.	.	.	G	13.23	2.175015	0.38413	.	.	ENSG00000064205	ENST00000372865	T	0.67523	-0.27	4.05	0.67	0.17923	.	.	.	.	.	T	0.54549	0.1865	.	.	.	0.80722	D	1	B	0.12630	0.006	B	0.08055	0.003	T	0.52726	-0.8537	8	0.87932	D	0	-45.6268	8.428	0.32739	0.3721:0.0:0.6279:0.0	.	146	Q6PEG3	.	N	146	ENSP00000361956:S146N	ENSP00000361956:S146N	S	+	2	0	WISP2	42789293	0.972000	0.33761	0.915000	0.36163	0.643000	0.38383	1.614000	0.36911	0.348000	0.23949	0.561000	0.74099	AGC		0.672	WISP2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127824.1	NM_003881		16	27	0	0	0	0.557998	0	16	27					A	43355879	G	A	43355879	2	1	85	1	0	0	0	0	0	0	0	1	17370	962	34	3		3	WISP2	20	43355879	Silent	SNP	G	TCGA-EJ-7317-01A-31D-2114-08	39462759	43355879	19669641	53	4421											
ZNF217	7764	broad.mit.edu	37	chr20	52198352	52198352	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gagaggcctgcacaactgccCttatttgtttctccaagctc	8	12	8	13	0	1	1	0	0	1	1	3	2	1	1	3	1	4	3	3	1	3	3			TCGA-EJ-7317-01A-31D-2114-08	TCGA-EJ-7317-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	342033de-29bc-49af-b78f-f05d7e303b22	2c4f634f-c147-49c3-b5d3-77175dc269cb	g.chr20:52198352C>T	ENST00000371471.2	-	2	1439	c.1014G>A	c.(1012-1014)aaG>aaA	p.K338K	ZNF217_ENST00000302342.3_Silent_p.K338K|ZNF217_ENST00000540425.1_5'Flank			O75362	ZN217_HUMAN	zinc finger protein 217	338					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone deacetylase complex (GO:0000118)|nucleoplasm (GO:0005654)	metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50	all_cancers(1;6.75e-17)|all_epithelial(1;1.76e-18)|Breast(2;3.83e-14)|Lung NSC(4;9.04e-07)|all_lung(4;2.5e-06)|Ovarian(1;0.0398)		BRCA - Breast invasive adenocarcinoma(1;9.88e-17)|Epithelial(1;1.56e-14)|all cancers(1;9.44e-13)|STAD - Stomach adenocarcinoma(23;0.0474)|Colorectal(105;0.198)			CACAACTGCCCTTATTTGTTT	0.542																																						ENST00000371471.2																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						c.(1012-1014)aaG>aaA		zinc finger protein 217							125	127	126					20																	52198352		2203	4300	6503	SO:0001819	synonymous_variant	7764				negative regulation of transcription, DNA-dependent	histone deacetylase complex	protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr20:52198352C>T	AF041259	CCDS13443.1	20q13.2	2013-01-08			ENSG00000171940	ENSG00000171940		"Zinc fingers, C2H2-type"	13009	protein-coding gene	gene with protein product		602967				9671742	Standard	NM_006526		Approved	ZABC1	uc002xwq.4	O75362	OTTHUMG00000032764	ENST00000371471.2:c.1014G>A	20.37:g.52198352C>T						ZNF217_ENST00000302342.3_Silent_p.K338K	p.K338K			O75362	ZN217_HUMAN	BRCA - Breast invasive adenocarcinoma(1;9.88e-17)|Epithelial(1;1.56e-14)|all cancers(1;9.44e-13)|STAD - Stomach adenocarcinoma(23;0.0474)|Colorectal(105;0.198)		2	1439	-	all_cancers(1;6.75e-17)|all_epithelial(1;1.76e-18)|Breast(2;3.83e-14)|Lung NSC(4;9.04e-07)|all_lung(4;2.5e-06)|Ovarian(1;0.0398)		338					E1P5Y6|Q14DB8	Silent	SNP	ENST00000371471.2	37	c.1014G>A	CCDS13443.1																																																																																				0.542	ZNF217-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079757.2	NM_006526		14	112	0	0	0	0.539581	0	14	112					T	52198352	C	T	52198352	2	4	85	1	0	0	0	0	0	0	0	1	17769	680	24	3		3	ZNF217	20	52198352	Silent	SNP	C	TCGA-EJ-7317-01A-31D-2114-08	8842473	52198352	10827168	54	4422											
BCR	613	broad.mit.edu	37	chr22	23523995	23523995	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccagccctaccagagcatctAcgtcgggggcatgatggaag	10	6	13	12	2	1	2	0	1	1	1	2	3	1	3	3	3	4	2	3	3	3	2			TCGA-EJ-7317-01A-31D-2114-08	TCGA-EJ-7317-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	342033de-29bc-49af-b78f-f05d7e303b22	2c4f634f-c147-49c3-b5d3-77175dc269cb	g.chr22:23523995A>G	ENST00000305877.8	+	1	1599	c.848A>G	c.(847-849)tAc>tGc	p.Y283C	BCR_ENST00000359540.3_Missense_Mutation_p.Y283C|BCR_ENST00000398512.5_Missense_Mutation_p.Y283C	NM_004327.3	NP_004318.3	P11274	BCR_HUMAN	breakpoint cluster region	283	Binding to ABL SH2-domain.|Kinase.				actin cytoskeleton organization (GO:0030036)|brain development (GO:0007420)|inner ear morphogenesis (GO:0042472)|negative regulation of cell migration (GO:0030336)|negative regulation of inflammatory response (GO:0050728)|negative regulation of neutrophil degranulation (GO:0043314)|neuromuscular process controlling balance (GO:0050885)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of phagocytosis (GO:0050766)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of cell cycle (GO:0051726)|regulation of small GTPase mediated signal transduction (GO:0051056)|response to lipopolysaccharide (GO:0032496)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	ATP binding (GO:0005524)|GTPase activator activity (GO:0005096)|kinase activity (GO:0016301)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)|Rac GTPase activator activity (GO:0030675)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)		BCR/JAK2(6)	central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	35					Bosutinib(DB06616)|Ponatinib(DB08901)	CAGAGCATCTACGTCGGGGGC	0.657			T	"ABL1,  FGFR1, JAK2 "	"CML, ALL, AML"																																	ENST00000305877.8				Dom	yes		22	22q11.21	613	T	breakpoint cluster region			L	"ABL1,  FGFR1, JAK2 "		"CML, ALL, AML"	BCR/JAK2(6)	0				central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	35						c.(847-849)tAc>tGc		breakpoint cluster region							21	25	24					22																	23523995		2202	4297	6499	SO:0001583	missense	613				regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	ATP binding|GTPase activator activity|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity	g.chr22:23523995A>G		CCDS13806.1, CCDS13807.1	22q11	2013-01-10			ENSG00000186716	ENSG00000186716		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	1014	protein-coding gene	gene with protein product		151410		D22S11, BCR1		1657398, 18070886	Standard	NM_004327		Approved	D22S662, CML, PHL, ALL	uc002zww.3	P11274	OTTHUMG00000150655	ENST00000305877.8:c.848A>G	22.37:g.23523995A>G	ENSP00000303507:p.Tyr283Cys					BCR_ENST00000359540.3_Missense_Mutation_p.Y283C|BCR_ENST00000398512.5_Missense_Mutation_p.Y283C	p.Y283C	NM_004327.3	NP_004318.3	P11274	BCR_HUMAN			1	1599	+			283			Binding to ABL SH2-domain.|Kinase.		P78501|Q12842|Q4LE80|Q6NZI3	Missense_Mutation	SNP	ENST00000305877.8	37	c.848A>G	CCDS13806.1	.	.	.	.	.	.	.	.	.	.	A	19.09	3.759921	0.69763	.	.	ENSG00000186716	ENST00000305877;ENST00000359540;ENST00000398512;ENST00000290956;ENST00000292697;ENST00000420248	T;T;T	0.61158	1.05;0.97;0.13	4.67	3.55	0.40652	.	0.232289	0.36703	N	0.002452	T	0.66723	0.2818	L	0.52573	1.65	0.47659	D	0.999482	D;D	0.89917	1.0;0.997	D;D	0.85130	0.997;0.924	T	0.68534	-0.5383	10	0.87932	D	0	.	8.4853	0.33067	0.8273:0.0:0.0:0.1727	.	283;283	P11274-2;P11274	.;BCR_HUMAN	C	283	ENSP00000303507:Y283C;ENSP00000352535:Y283C;ENSP00000381524:Y283C	ENSP00000290956:Y283C	Y	+	2	0	BCR	21853995	1.000000	0.71417	0.992000	0.48379	0.786000	0.44442	5.126000	0.64721	1.876000	0.54355	0.455000	0.32223	TAC		0.657	BCR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075819.1	NM_004327		8	36	0	0	0	0.361761	0	8	36					G	23523995	A	G	23523995	3	3	85	1	0	0	0	0	1	0	0	0	1388	391	14	4	850	4	BCR	22	23523995	Missense_Mutation	SNP	A	TCGA-EJ-7317-01A-31D-2114-08		23523995	27780571	55	4423											
KDM6A	7403	broad.mit.edu	37	chrX	44969453	44969453	+	Frame_Shift_Del	DEL	A	A	-																															ttgtggtgctagaacagtacAaaatggaggacctgatgcaa																										TCGA-EJ-7317-01A-31D-2114-08	TCGA-EJ-7317-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	342033de-29bc-49af-b78f-f05d7e303b22	2c4f634f-c147-49c3-b5d3-77175dc269cb	g.chrX:44969453delA	ENST00000377967.4	+	28	4176	c.4135delA	c.(4135-4137)aaafs	p.K1379fs	KDM6A_ENST00000382899.4_Frame_Shift_Del_p.K1386fs|KDM6A_ENST00000543216.1_Frame_Shift_Del_p.K1300fs|KDM6A_ENST00000479423.1_3'UTR|KDM6A_ENST00000536777.1_Frame_Shift_Del_p.K1334fs	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN	lysine (K)-specific demethylase 6A	1379					canonical Wnt signaling pathway (GO:0060070)|heart morphogenesis (GO:0003007)|histone H3-K4 methylation (GO:0051568)|in utero embryonic development (GO:0001701)|mesodermal cell differentiation (GO:0048333)|multicellular organism growth (GO:0035264)|neural tube closure (GO:0001843)|notochord morphogenesis (GO:0048570)|regulation of gene expression (GO:0010468)|respiratory system process (GO:0003016)|somite rostral/caudal axis specification (GO:0032525)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|histone demethylase activity (H3-K27 specific) (GO:0071558)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)	p.0?(6)|p.Y1378fs(2)|p.M1380fs*9(1)		NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						AGAACAGTACAAAATGGAGGA	0.388			"D, N, F, S"		"renal, oesophageal SCC, MM"																																Colon(129;1273 1667 15230 27352 52914)	ENST00000377967.4				Rec	yes		X	Xp11.2	7403	"D, N, F, S"	"lysine (K)-specific demethylase 6A, UTX"			"E, L"			"renal, oesophageal SCC, MM"		9	Whole gene deletion(6)|Complex(2)|Complex - frameshift(1)	p.0?(6)|p.Y1378fs(2)|p.M1380fs*9(1)	central_nervous_system(3)|oesophagus(2)|breast(2)|pancreas(2)	NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						c.(4135-4137)aafs		lysine (K)-specific demethylase 6A							140	130	133					X																	44969453		2203	4300	6503	SO:0001589	frameshift_variant	7403				histone H3-K4 methylation		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chrX:44969453delA	AF000992	CCDS14265.1	Xp11.2	2014-09-17	2009-04-17	2009-04-17	ENSG00000147050	ENSG00000147050		"Chromatin-modifying enzymes / K-demethylases", "Tetratricopeptide (TTC) repeat domain containing"	12637	protein-coding gene	gene with protein product		300128	"ubiquitously transcribed tetratricopeptide repeat, X chromosome"	UTX		9499428, 9381176	Standard	XM_005272655		Approved		uc004dge.4	O15550	OTTHUMG00000021402	ENST00000377967.4:c.4135delA	X.37:g.44969453delA	ENSP00000367203:p.Lys1379fs					KDM6A_ENST00000543216.1_Frame_Shift_Del_p.K1300fs|KDM6A_ENST00000479423.1_3'UTR|KDM6A_ENST00000536777.1_Frame_Shift_Del_p.K1334fs|KDM6A_ENST00000382899.4_Frame_Shift_Del_p.K1386fs	p.K1379fs	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN			28	4176	+			1379					Q52LL9|Q5JVQ7	Frame_Shift_Del	DEL	ENST00000377967.4	37	c.4135delA	CCDS14265.1																																																																																				0.388	KDM6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056324.1	NM_021140		63	22						63	22	---	---	---	---	-	44969453	A	-	44969453	7	5	85	1	0	1	0	1	0	0	0	0	8137	131	5	0	4245	0	KDM6A	23	44969453	Frame_Shift_Del	DEL	A	TCGA-EJ-7317-01A-31D-2114-08		44969453	110301107	56	4424											
MECR	51102	broad.mit.edu	37	chr1	29527049	29527049	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctaactgccgcagcagctctGtggagcttttcccaccaaca	9	9	8	15	1	1	0	0	0	1	0	2	1	2	1	3	1	6	4	3	1	2	3			TCGA-EJ-7318-01B-11D-A32B-08	TCGA-EJ-7318-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b812ff8-df95-4cb8-994f-3781ffaa7283	aedb9142-7769-4ca6-b652-f7b81ce8166e	g.chr1:29527049G>A	ENST00000263702.6	-	7	834	c.809C>T	c.(808-810)aCa>aTa	p.T270I	MECR_ENST00000489248.1_5'Flank|MECR_ENST00000373791.3_Missense_Mutation_p.T194I			Q9BV79	MECR_HUMAN	mitochondrial trans-2-enoyl-CoA reductase	270					fatty acid biosynthetic process (GO:0006633)|fatty acid metabolic process (GO:0006631)	mitochondrion (GO:0005739)	trans-2-enoyl-CoA reductase (NADPH) activity (GO:0019166)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(1)|ovary(2)|prostate(1)	11		Colorectal(325;0.000389)|Breast(348;0.00765)|Lung NSC(340;0.0081)|all_lung(284;0.00914)|all_neural(195;0.0199)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)|Medulloblastoma(700;0.123)		Colorectal(126;3.39e-07)|COAD - Colon adenocarcinoma(152;2.04e-05)|STAD - Stomach adenocarcinoma(196;0.0195)|BRCA - Breast invasive adenocarcinoma(304;0.053)|READ - Rectum adenocarcinoma(331;0.0649)|KIRC - Kidney renal clear cell carcinoma(1967;0.137)		CAGCAGCTCTGTGGAGCTTTT	0.562																																						ENST00000373791.3																			0				NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(1)|ovary(2)|prostate(1)	11						c.(580-582)aCa>aTa		mitochondrial trans-2-enoyl-CoA reductase							65	62	63					1																	29527049		2203	4300	6503	SO:0001583	missense	51102				fatty acid biosynthetic process	mitochondrion	trans-2-enoyl-CoA reductase (NADPH) activity|zinc ion binding	g.chr1:29527049G>A		CCDS30659.1, CCDS30660.1	1p35.3	2012-09-20			ENSG00000116353	ENSG00000116353	1.3.1.38		19691	protein-coding gene	gene with protein product	"nuclear receptor binding factor 1", "mitochondrial 2-enoyl thioester reductase"	608205				9795230, 12654921	Standard	XM_005245885		Approved	CGI-63, NRBF1, FASN2B	uc001brq.1	Q9BV79	OTTHUMG00000059082	ENST00000263702.6:c.809C>T	1.37:g.29527049G>A	ENSP00000263702:p.Thr270Ile					MECR_ENST00000263702.6_Missense_Mutation_p.T270I	p.T194I	NM_001024732.1|NM_016011.2	NP_001019903.1|NP_057095.2	Q9BV79	MECR_HUMAN		Colorectal(126;3.39e-07)|COAD - Colon adenocarcinoma(152;2.04e-05)|STAD - Stomach adenocarcinoma(196;0.0195)|BRCA - Breast invasive adenocarcinoma(304;0.053)|READ - Rectum adenocarcinoma(331;0.0649)|KIRC - Kidney renal clear cell carcinoma(1967;0.137)	7	953	-		Colorectal(325;0.000389)|Breast(348;0.00765)|Lung NSC(340;0.0081)|all_lung(284;0.00914)|all_neural(195;0.0199)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)|Medulloblastoma(700;0.123)	270					B3KT72|Q5SYU0|Q5SYU1|Q5SYU2|Q6IBU9|Q9Y373	Missense_Mutation	SNP	ENST00000263702.6	37	c.581C>T	CCDS30659.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.021042	0.75275	.	.	ENSG00000116353	ENST00000373791;ENST00000263702	T;T	0.04454	3.62;3.62	5.71	4.8	0.61643	Alcohol dehydrogenase, C-terminal (1);NAD(P)-binding domain (1);	0.140761	0.64402	N	0.000005	T	0.13628	0.0330	M	0.79258	2.445	0.80722	D	1	P	0.42941	0.794	P	0.48840	0.592	T	0.00518	-1.1693	10	0.52906	T	0.07	-12.3087	12.3689	0.55244	0.0818:0.0:0.9182:0.0	.	270	Q9BV79	MECR_HUMAN	I	194;270	ENSP00000362896:T194I;ENSP00000263702:T270I	ENSP00000263702:T270I	T	-	2	0	MECR	29399636	1.000000	0.71417	0.996000	0.52242	0.999000	0.98932	6.416000	0.73332	1.406000	0.46857	0.655000	0.94253	ACA		0.562	MECR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130740.1	NM_016011		4	26	0	0	0	1	0	4	26					A	29527049	G	A	29527049	3	1	86	1	0	0	0	0	1	0	0	0	9424	1377	48	3	328	3	MECR	1	29527049	Missense_Mutation	SNP	G	TCGA-EJ-7318-01B-11D-A32B-08		29527049	219723572	1	4425											
PHC2	1912	broad.mit.edu	37	chr1	33797885	33797885	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gagatgcccaccttgcagatAgggctcctccatctccgagt	8	9	10	14	1	1	2	0	0	1	2	4	4	3	2	5	1	2	2	5	1	1	2			TCGA-EJ-7318-01B-11D-A32B-08	TCGA-EJ-7318-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b812ff8-df95-4cb8-994f-3781ffaa7283	aedb9142-7769-4ca6-b652-f7b81ce8166e	g.chr1:33797885A>C	ENST00000257118.5	-	10	1932	c.1879T>G	c.(1879-1881)Tat>Gat	p.Y627D	PHC2_ENST00000485928.1_5'UTR|MIR3605_ENST00000583214.1_RNA|PHC2_ENST00000373418.3_Missense_Mutation_p.Y92D|PHC2_ENST00000373416.1_Missense_Mutation_p.Y92D|PHC2_ENST00000373422.3_Missense_Mutation_p.Y233D|PHC2_ENST00000431992.1_Missense_Mutation_p.Y598D|PHC2_ENST00000419414.2_Missense_Mutation_p.Y628D	NM_198040.2	NP_932157.1	Q8IXK0	PHC2_HUMAN	polyhomeotic homolog 2 (Drosophila)	627					multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	heterochromatin (GO:0000792)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				CCTTGCAGATAGGGCTCCTCC	0.567																																						ENST00000257118.5																			0				autonomic_ganglia(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	31						c.(1879-1881)Tat>Gat		polyhomeotic homolog 2 (Drosophila)							170	144	152					1																	33797885		2203	4300	6503	SO:0001583	missense	1912				multicellular organismal development	PcG protein complex	DNA binding|identical protein binding|zinc ion binding	g.chr1:33797885A>C	AJ419231	CCDS378.1, CCDS379.1	1p34.3	2013-01-10	2006-09-12	2002-11-15	ENSG00000134686	ENSG00000134686		"Sterile alpha motif (SAM) domain containing"	3183	protein-coding gene	gene with protein product		602979	"early development regulator 2 (homolog of polyhomeotic 2)", "polyhomeotic-like 2 (Drosophila)"	EDR2		9121482, 12384788	Standard	NM_198040		Approved	HPH2	uc001bxg.1	Q8IXK0	OTTHUMG00000004133	ENST00000257118.5:c.1879T>G	1.37:g.33797885A>C	ENSP00000257118:p.Tyr627Asp					PHC2_ENST00000431992.1_Missense_Mutation_p.Y598D|PHC2_ENST00000373422.3_Missense_Mutation_p.Y233D|PHC2_ENST00000485928.1_5'UTR|PHC2_ENST00000373418.3_Missense_Mutation_p.Y92D|PHC2_ENST00000419414.2_Missense_Mutation_p.Y628D|PHC2_ENST00000373416.1_Missense_Mutation_p.Y92D	p.Y627D	NM_198040.2	NP_932157.1	Q8IXK0	PHC2_HUMAN			10	1932	-		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)	627					A1L4Q1|A8KA40|D3DPR2|Q2TAL3|Q5T0C1|Q6NUJ6|Q6ZQR1|Q8N306|Q8TAG8|Q96BL4|Q9Y4Y7	Missense_Mutation	SNP	ENST00000257118.5	37	c.1879T>G	CCDS378.1	.	.	.	.	.	.	.	.	.	.	A	18.35	3.604947	0.66445	.	.	ENSG00000134686	ENST00000431992;ENST00000257118;ENST00000373422;ENST00000373418;ENST00000307890;ENST00000419414;ENST00000373416	T;T;T;T	0.44881	1.92;1.5;0.91;1.91	6.17	6.17	0.99709	.	0.695069	0.15258	N	0.271927	T	0.45438	0.1342	N	0.16368	0.405	0.35457	D	0.796221	D;D;D;D	0.67145	0.994;0.994;0.994;0.996	P;P;P;P	0.62184	0.795;0.795;0.795;0.899	T	0.51268	-0.8727	10	0.33141	T	0.24	-9.8153	13.214	0.59844	1.0:0.0:0.0:0.0	.	628;599;627;42	A8KA40;B7ZLY0;Q8IXK0;Q8IXK0-3	.;.;PHC2_HUMAN;.	D	598;627;233;92;205;628;92	ENSP00000389436:Y598D;ENSP00000257118:Y627D;ENSP00000362521:Y233D;ENSP00000391440:Y628D	ENSP00000257118:Y627D	Y	-	1	0	PHC2	33570472	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.128000	0.50492	2.371000	0.80710	0.533000	0.62120	TAT		0.567	PHC2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000011895.1	NM_198040		4	95	0	0	0	1	0	4	95					C	33797885	A	C	33797885	3	2	86	1	0	0	0	0	1	0	0	0	11817	420	15	5	717	5	PHC2	1	33797885	Missense_Mutation	SNP	A	TCGA-EJ-7318-01B-11D-A32B-08	4270836	33797885	215452736	2	4426											
TNNI3K	100526835	broad.mit.edu	37	chr1	74819697	74819697	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgctaccacggtcacattcGcctggttcagttcttactgg	6	14	9	12	2	3	0	2	0	1	0	4	0	3	0	2	3	3	3	2	3	2	6	rs201470572		TCGA-EJ-7318-01B-11D-A32B-08	TCGA-EJ-7318-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b812ff8-df95-4cb8-994f-3781ffaa7283	aedb9142-7769-4ca6-b652-f7b81ce8166e	g.chr1:74819697G>A	ENST00000370899.3	+	13	1401	c.1364G>A	c.(1363-1365)cGc>cAc	p.R455H	TNNI3K_ENST00000326637.3_Missense_Mutation_p.R354H|FPGT-TNNI3K_ENST00000557284.2_Missense_Mutation_p.R468H|TNNI3K_ENST00000370891.2_Missense_Mutation_p.R455H|RP11-439H8.4_ENST00000415549.2_RNA|FPGT-TNNI3K_ENST00000370895.1_Missense_Mutation_p.R455H	NM_001199327.1	NP_001186256			FPGT-TNNI3K readthrough									p.R354H(2)									GGTCACATTCGCCTGGTTCAG	0.403																																						ENST00000370895.1																			2	Substitution - Missense(2)	p.R354H(2)	large_intestine(2)								c.(1363-1365)cGc>cAc									155	135	142					1																	74819697		2203	4300	6503	SO:0001583	missense	0					cytoplasm|nucleus	ATP binding|metal ion binding|protein C-terminus binding|protein serine/threonine kinase activity|troponin I binding	g.chr1:74819697G>A			1p31.3	2014-03-14			ENSG00000259030	ENSG00000259030			42952	other	readthrough							Standard	NM_001112808		Approved		uc001dge.2		OTTHUMG00000166281	ENST00000370899.3:c.1364G>A	1.37:g.74819697G>A	ENSP00000359936:p.Arg455His					TNNI3K_ENST00000370891.2_Missense_Mutation_p.R455H|TNNI3K_ENST00000326637.3_Missense_Mutation_p.R354H|FPGT-TNNI3K_ENST00000370899.3_Missense_Mutation_p.R455H|FPGT-TNNI3K_ENST00000557284.1_Missense_Mutation_p.R455H|RP11-439H8.4_ENST00000415549.2_RNA	p.R455H			Q59H18	TNI3K_HUMAN			13	1399	+			354						Missense_Mutation	SNP	ENST00000370899.3	37	c.1364G>A		.	.	.	.	.	.	.	.	.	.	G	18.04	3.534936	0.64972	.	.	ENSG00000259030;ENSG00000259030;ENSG00000259030;ENSG00000116783;ENSG00000116783	ENST00000370899;ENST00000370895;ENST00000557284;ENST00000370891;ENST00000326637	T;T;T;T;T	0.64803	-0.12;-0.12;-0.12;-0.12;-0.12	5.22	0.237	0.15475	Ankyrin repeat-containing domain (4);	0.104545	0.64402	N	0.000002	T	0.53916	0.1826	L	0.41124	1.26	0.52099	D	0.999941	B;P;P;D	0.89917	0.35;0.765;0.874;1.0	B;B;B;D	0.83275	0.141;0.125;0.165;0.996	T	0.52064	-0.8625	10	0.29301	T	0.29	.	9.8896	0.41283	0.3339:0.0:0.6661:0.0	.	354;455;455;455	Q59H18;Q59H18-1;Q59H18-4;Q59H18-3	TNI3K_HUMAN;.;.;.	H	455;455;455;455;354	ENSP00000359936:R455H;ENSP00000359932:R455H;ENSP00000450895:R455H;ENSP00000359928:R455H;ENSP00000322251:R354H	ENSP00000322251:R354H	R	+	2	0	RP11-653A5.2;AC093158.1	74592285	1.000000	0.71417	0.993000	0.49108	0.977000	0.68977	3.113000	0.50376	-0.095000	0.12351	-0.126000	0.14955	CGC		0.403	FPGT-TNNI3K-003	NOVEL	basic|appris_candidate|readthrough_transcript|exp_conf	protein_coding	protein_coding	OTTHUMT00000026438.3			9	105	0	0	0	1	0	9	105					A	74819697	G	A	74819697	3	1	86	1	0	0	0	0	1	0	0	0	16326	1087	38	1	1458	1	TNNI3K	1	74819697	Missense_Mutation	SNP	G	TCGA-EJ-7318-01B-11D-A32B-08	41021812	74819697	174430924	3	4427											
DCLRE1B	64858	broad.mit.edu	37	chr1	114450813	114450813	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cacaacataacataaagattGgtgagttgtttcctttcagt	13	14	7	7	0	1	2	1	1	0	1	2	2	2	2	1	1	2	2	1	1	4	6			TCGA-EJ-7318-01B-11D-A32B-08	TCGA-EJ-7318-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b812ff8-df95-4cb8-994f-3781ffaa7283	aedb9142-7769-4ca6-b652-f7b81ce8166e	g.chr1:114450813G>A	ENST00000369563.3	+	3	984	c.538G>A	c.(538-540)Gga>Aga	p.G180R	DCLRE1B_ENST00000466480.1_3'UTR	NM_022836.3	NP_073747.1	Q9H816	DCR1B_HUMAN	DNA cross-link repair 1B	180					cell cycle checkpoint (GO:0000075)|DNA repair (GO:0006281)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|protection from non-homologous end joining at telomere (GO:0031848)|telomere maintenance (GO:0000723)|telomeric 3' overhang formation (GO:0031860)|telomeric loop formation (GO:0031627)	centrosome (GO:0005813)|chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	5'-3' exonuclease activity (GO:0008409)			breast(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(2)|lung(6)|stomach(1)	18	Lung SC(450;0.184)	all_cancers(81;1.46e-05)|all_epithelial(167;2.42e-05)|all_lung(203;0.000353)|Lung NSC(69;0.000518)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CATAAAGATTGGTGAGTTGTT	0.428								Other identified genes with known or suspected DNA repair function																														ENST00000369563.3																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(2)|lung(6)|stomach(1)	18						c.e3+1	Other identified genes with known or suspected DNA repair function	DNA cross-link repair 1B							127	126	126					1																	114450813		2203	4300	6503	SO:0001630	splice_region_variant	64858				cell cycle checkpoint|DNA repair|protection from non-homologous end joining at telomere|telomeric 3' overhang formation|telomeric loop formation	centrosome|chromosome, telomeric region|nucleus	5'-3' exonuclease activity|protein binding	g.chr1:114450813G>A	BC029687	CCDS866.1	1p11.1	2010-06-24	2010-06-24		ENSG00000118655	ENSG00000118655			17641	protein-coding gene	gene with protein product	"APOLLO", "PSO2 homolog (S. cerevisiae)"	609683	"DNA cross-link repair 1B (PSO2 homolog, S. cerevisiae)"				Standard	NM_022836		Approved	SNM1B, FLJ12810, FLJ13998	uc001eeg.3	Q9H816	OTTHUMG00000011937	ENST00000369563.3:c.538+1G>A	1.37:g.114450813G>A						DCLRE1B_ENST00000466480.1_3'UTR	p.G180_splice	NM_022836.3	NP_073747.1	Q9H816	DCR1B_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	3	984	+	Lung SC(450;0.184)	all_cancers(81;1.46e-05)|all_epithelial(167;2.42e-05)|all_lung(203;0.000353)|Lung NSC(69;0.000518)	180					Q9H9E5	Splice_Site	SNP	ENST00000369563.3	37	c.538_splice	CCDS866.1	.	.	.	.	.	.	.	.	.	.	G	34	5.301478	0.95601	.	.	ENSG00000118655	ENST00000369563	T	0.75154	-0.91	5.62	5.62	0.85841	.	0.048246	0.85682	D	0.000000	D	0.84079	0.5393	M	0.71036	2.16	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.83699	0.0181	10	0.52906	T	0.07	-3.1548	19.6415	0.95760	0.0:0.0:1.0:0.0	.	180	Q9H816	DCR1B_HUMAN	R	180	ENSP00000358576:G180R	ENSP00000358576:G180R	G	+	1	0	DCLRE1B	114252336	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.336000	0.96533	2.651000	0.90000	0.561000	0.74099	GGA		0.428	DCLRE1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033020.2	NM_022836	Missense_Mutation	17	55	0	0	0	1	0	17	55					A	114450813	G	A	114450813	5	1	86	1	0	0	0	0	0	0	1	0	4295	1362	47	3	548	3	DCLRE1B	1	114450813	Splice_Site	SNP	G	TCGA-EJ-7318-01B-11D-A32B-08	39631116	114450813	134799808	4	4428											
SPTA1	6708	broad.mit.edu	37	chr1	158631121	158631121	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tttctgttatctcttgaatgCgtggttcatggctggcaatg	6	17	11	7	1	3	1	1	1	2	0	4	1	3	1	0	3	1	4	0	3	3	4	rs550425124		TCGA-EJ-7318-01B-11D-A32B-08	TCGA-EJ-7318-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b812ff8-df95-4cb8-994f-3781ffaa7283	aedb9142-7769-4ca6-b652-f7b81ce8166e	g.chr1:158631121C>T	ENST00000368147.4	-	18	2723	c.2543G>A	c.(2542-2544)cGc>cAc	p.R848H		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	848					actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					CTCTTGAATGCGTGGTTCATG	0.438													C|||	1	0.000199681	8e-04	0	5008	,	,		17515	0		0	False		,,,				2504	0					ENST00000368148.3																			0				NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307						c.(2542-2544)cGc>cAc		spectrin, alpha, erythrocytic 1 (elliptocytosis 2)							255	248	250					1																	158631121		1937	4151	6088	SO:0001583	missense	6708				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	g.chr1:158631121C>T	M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"EF-hand domain containing"	11272	protein-coding gene	gene with protein product	"elliptocytosis 2"	182860	"spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.2543G>A	1.37:g.158631121C>T	ENSP00000357129:p.Arg848His					SPTA1_ENST00000368147.3_Missense_Mutation_p.R848H	p.R848H	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN			18	2723	-	all_hematologic(112;0.0378)		848					Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Missense_Mutation	SNP	ENST00000368147.4	37	c.2543G>A	CCDS41423.1	.	.	.	.	.	.	.	.	.	.	C	15.11	2.735718	0.49045	.	.	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.55052	0.54;0.54	4.81	2.72	0.32119	.	.	.	.	.	T	0.33556	0.0867	M	0.72894	2.215	0.40931	D	0.98439	P	0.36065	0.535	B	0.33690	0.168	T	0.23190	-1.0195	9	0.54805	T	0.06	.	9.8666	0.41148	0.0:0.8171:0.0:0.1829	.	848	P02549	SPTA1_HUMAN	H	848	ENSP00000357130:R848H;ENSP00000357129:R848H	ENSP00000357129:R848H	R	-	2	0	SPTA1	156897745	0.991000	0.36638	0.990000	0.47175	0.157000	0.22087	0.700000	0.25601	0.502000	0.28037	0.650000	0.86243	CGC		0.438	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126		49	123	0	0	0	1	0	49	123					T	158631121	C	T	158631121	3	4	86	1	0	0	0	0	1	0	0	0	15115	768	27	1	4856	1	SPTA1	1	158631121	Missense_Mutation	SNP	C	TCGA-EJ-7318-01B-11D-A32B-08	44180308	158631121	90619500	5	4429											
SLC8A1	6546	broad.mit.edu	37	chr2	40342400	40342400	+	Frame_Shift_Del	DEL	C	C	-																															tctgatagttcctttagaagCcttttatgtggcagtaggcc																										TCGA-EJ-7318-01B-11D-A32B-08	TCGA-EJ-7318-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b812ff8-df95-4cb8-994f-3781ffaa7283	aedb9142-7769-4ca6-b652-f7b81ce8166e	g.chr2:40342400delC	ENST00000403092.1	-	11	2948	c.2915delG	c.(2914-2916)ggcfs	p.G972fs	SLC8A1_ENST00000405901.3_Frame_Shift_Del_p.G967fs|SLC8A1_ENST00000402441.1_Frame_Shift_Del_p.G936fs|SLC8A1-AS1_ENST00000597385.1_RNA|SLC8A1-AS1_ENST00000593848.1_RNA|SLC8A1-AS1_ENST00000598247.1_RNA|SLC8A1_ENST00000406785.2_Frame_Shift_Del_p.G936fs|SLC8A1-AS1_ENST00000599268.1_RNA|SLC8A1_ENST00000406391.2_Frame_Shift_Del_p.G936fs|SLC8A1-AS1_ENST00000444629.1_RNA|SLC8A1_ENST00000332839.4_Frame_Shift_Del_p.G972fs|SLC8A1-AS1_ENST00000597170.1_RNA|SLC8A1_ENST00000408028.2_Frame_Shift_Del_p.G964fs|SLC8A1-AS1_ENST00000599740.1_RNA|SLC8A1-AS1_ENST00000435515.1_RNA|SLC8A1_ENST00000542756.1_Frame_Shift_Del_p.G967fs|SLC8A1-AS1_ENST00000599956.1_RNA|SLC8A1-AS1_ENST00000601679.1_RNA|SLC8A1_ENST00000542024.1_Frame_Shift_Del_p.G936fs|SLC8A1-AS1_ENST00000596532.1_RNA|SLC8A1-AS1_ENST00000593878.1_RNA|SLC8A1_ENST00000405269.1_Frame_Shift_Del_p.G936fs			P32418	NAC1_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 1	972					blood coagulation (GO:0007596)|calcium ion export (GO:1901660)|calcium ion homeostasis (GO:0055074)|calcium ion import (GO:0070509)|calcium ion transport into cytosol (GO:0060402)|cardiac muscle cell development (GO:0055013)|cardiac muscle contraction (GO:0060048)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular response to caffeine (GO:0071313)|cellular response to reactive oxygen species (GO:0034614)|cellular sodium ion homeostasis (GO:0006883)|cytosolic calcium ion transport (GO:0060401)|embryonic heart tube development (GO:0035050)|embryonic placenta development (GO:0001892)|heart morphogenesis (GO:0003007)|ion transport (GO:0006811)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|muscle contraction (GO:0006936)|muscle fiber development (GO:0048747)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|post-embryonic development (GO:0009791)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|relaxation of cardiac muscle (GO:0055119)|relaxation of smooth muscle (GO:0044557)|sodium ion export (GO:0071436)|sodium ion import (GO:0097369)|transmembrane transport (GO:0055085)|vascular smooth muscle contraction (GO:0014829)	basolateral plasma membrane (GO:0016323)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|calcium:sodium antiporter activity (GO:0005432)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	CCTTTAGAAGCCTTTTATGTG	0.398																																						ENST00000406785.1																			0				NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100						c.(2806-2808)gcfs		solute carrier family 8 (sodium/calcium exchanger), member 1	Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)						29	33	32					2																	40342400		2202	4300	6502	SO:0001589	frameshift_variant	6546				cell communication|muscle contraction|platelet activation	integral to plasma membrane	calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding	g.chr2:40342400delC		CCDS1806.1, CCDS46264.1, CCDS46265.1, CCDS59430.1	2p22.1	2013-07-15			ENSG00000183023	ENSG00000183023		"Solute carriers"	11068	protein-coding gene	gene with protein product	"Na+/Ca++ exchanger"	182305		NCX1		1559714	Standard	NM_021097		Approved		uc002rrx.3	P32418	OTTHUMG00000102183	ENST00000403092.1:c.2915delG	2.37:g.40342400delC	ENSP00000384763:p.Gly972fs					SLC8A1_ENST00000405901.3_Frame_Shift_Del_p.G967fs|SLC8A1_ENST00000405269.1_Frame_Shift_Del_p.G936fs|SLC8A1_ENST00000403092.1_Frame_Shift_Del_p.G972fs|SLC8A1-AS1_ENST00000599268.1_RNA|SLC8A1-AS1_ENST00000444629.1_RNA|SLC8A1_ENST00000402441.1_Frame_Shift_Del_p.G936fs|SLC8A1-AS1_ENST00000598247.1_RNA|SLC8A1-AS1_ENST00000599956.1_RNA|SLC8A1-AS1_ENST00000597385.1_RNA|SLC8A1_ENST00000332839.4_Frame_Shift_Del_p.G972fs|SLC8A1-AS1_ENST00000596532.1_RNA|SLC8A1-AS1_ENST00000593848.1_RNA|SLC8A1-AS1_ENST00000593878.1_RNA|SLC8A1-AS1_ENST00000435515.1_RNA|SLC8A1_ENST00000542024.1_Frame_Shift_Del_p.G936fs|SLC8A1-AS1_ENST00000599740.1_RNA|SLC8A1_ENST00000542756.1_Frame_Shift_Del_p.G967fs|SLC8A1_ENST00000408028.2_Frame_Shift_Del_p.G964fs|SLC8A1_ENST00000406391.2_Frame_Shift_Del_p.G936fs|SLC8A1-AS1_ENST00000597170.1_RNA|SLC8A1-AS1_ENST00000601679.1_RNA	p.G936fs			P32418	NAC1_HUMAN			8	2996	-			972					A8K6N1|D6W595|O95849|Q4QQG6|Q587I6|Q59GN4|Q9UBL8|Q9UD55|Q9UDN1|Q9UDN2|Q9UKX6	Frame_Shift_Del	DEL	ENST00000403092.1	37	c.2807delG	CCDS1806.1																																																																																				0.398	SLC8A1-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326065.1	NM_021097		25	41						25	41	---	---	---	---	-	40342400	C	-	40342400	7	5	86	1	0	1	0	1	0	0	0	0	14706	739	26	0	10	0	SLC8A1	2	40342400	Frame_Shift_Del	DEL	C	TCGA-EJ-7318-01B-11D-A32B-08		40342400	202856973	6	4430											
LRRTM1	347730	broad.mit.edu	37	chr2	80530262	80530262	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggagatgaggcgcgggaagTgggcgaagttcaccttgacc	9	6	18	8	3	1	3	1	2	0	1	1	6	1	4	2	4	0	1	2	4	2	2			TCGA-EJ-7318-01B-11D-A32B-08	TCGA-EJ-7318-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b812ff8-df95-4cb8-994f-3781ffaa7283	aedb9142-7769-4ca6-b652-f7b81ce8166e	g.chr2:80530262T>C	ENST00000295057.3	-	2	1339	c.683A>G	c.(682-684)cAc>cGc	p.H228R	CTNNA2_ENST00000496558.1_Intron|LRRTM1_ENST00000409148.1_Missense_Mutation_p.H228R|CTNNA2_ENST00000402739.4_Intron|CTNNA2_ENST00000361291.4_Intron|CTNNA2_ENST00000541047.1_Intron|CTNNA2_ENST00000466387.1_Intron|CTNNA2_ENST00000540488.1_Intron	NM_178839.4	NP_849161.2	Q86UE6	LRRT1_HUMAN	leucine rich repeat transmembrane neuronal 1	228					exploration behavior (GO:0035640)|locomotory behavior (GO:0007626)|long-term synaptic potentiation (GO:0060291)|negative regulation of receptor internalization (GO:0002091)|protein localization to synapse (GO:0035418)|synapse organization (GO:0050808)	axon (GO:0030424)|cell junction (GO:0030054)|endoplasmic reticulum (GO:0005783)|excitatory synapse (GO:0060076)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)				NS(1)|breast(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(33)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	63						GCGCGGGAAGTGGGCGAAGTT	0.577										HNSCC(69;0.2)																												ENST00000295057.3																			0				NS(1)|breast(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(33)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	63						c.(682-684)cAc>cGc		leucine rich repeat transmembrane neuronal 1							112	108	109					2																	80530262		2203	4300	6503	SO:0001583	missense	347730					axon|endoplasmic reticulum membrane|growth cone|integral to membrane		g.chr2:80530262T>C	AY358310	CCDS1966.1	2p12	2004-06-22			ENSG00000162951	ENSG00000162951			19408	protein-coding gene	gene with protein product		610867				12676565	Standard	XR_244930		Approved	FLJ32082	uc002sok.1	Q86UE6	OTTHUMG00000130021	ENST00000295057.3:c.683A>G	2.37:g.80530262T>C	ENSP00000295057:p.His228Arg	HNSCC(69;0.2)				LRRTM1_ENST00000409148.1_Missense_Mutation_p.H228R|CTNNA2_ENST00000496558.1_Intron|CTNNA2_ENST00000361291.4_Intron|CTNNA2_ENST00000541047.1_Intron|CTNNA2_ENST00000402739.4_Intron|CTNNA2_ENST00000466387.1_Intron|CTNNA2_ENST00000540488.1_Intron	p.H228R	NM_178839.4	NP_849161.2	Q86UE6	LRRT1_HUMAN			2	1339	-			228					A8K397|D6W5K1|Q96DN1	Missense_Mutation	SNP	ENST00000295057.3	37	c.683A>G	CCDS1966.1	.	.	.	.	.	.	.	.	.	.	T	16.32	3.091478	0.55968	.	.	ENSG00000162951	ENST00000295057;ENST00000409148	T;T	0.79454	-1.27;-1.27	5.26	4.1	0.47936	.	0.000000	0.85682	U	0.000000	D	0.83839	0.5341	L	0.59436	1.845	0.80722	D	1	D	0.76494	0.999	D	0.78314	0.991	T	0.82137	-0.0606	9	.	.	.	.	10.7829	0.46388	0.0:0.0749:0.0:0.9251	.	228	Q86UE6	LRRT1_HUMAN	R	228	ENSP00000295057:H228R;ENSP00000386646:H228R	.	H	-	2	0	LRRTM1	80383773	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.036000	0.88901	0.826000	0.34661	0.533000	0.62120	CAC		0.577	LRRTM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313614.1	NM_178839		39	76	0	0	0	1	0	39	76					C	80530262	T	C	80530262	3	2	86	1	0	0	0	0	1	0	0	0	9039	1696	59	4	889	4	LRRTM1	2	80530262	Missense_Mutation	SNP	T	TCGA-EJ-7318-01B-11D-A32B-08	40187862	80530262	162669111	7	4431											
POU3F3	5455	broad.mit.edu	37	chr2	105472850	105472852	+	In_Frame_Del	DEL	CGG	CGG	-																															gcgcagggacccccgcaccaCggcggcggcggcggcggcgc																								rs550439793|rs577550493	byFrequency	TCGA-EJ-7318-01B-11D-A32B-08	TCGA-EJ-7318-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b812ff8-df95-4cb8-994f-3781ffaa7283	aedb9142-7769-4ca6-b652-f7b81ce8166e	g.chr2:105472850_105472852delCGG	ENST00000361360.2	+	1	882_884	c.882_884delCGG	c.(880-885)cacggc>cac	p.G300del	RP11-13J10.1_ENST00000598623.1_RNA	NM_006236.1	NP_006227.1	P20264	PO3F3_HUMAN	POU class 3 homeobox 3	300	Gly-rich.				central nervous system development (GO:0007417)|cerebral cortex radially oriented cell migration (GO:0021799)|forebrain ventricular zone progenitor cell division (GO:0021869)|metanephric ascending thin limb development (GO:0072218)|metanephric DCT cell differentiation (GO:0072240)|metanephric loop of Henle development (GO:0072236)|metanephric macula densa development (GO:0072227)|metanephric thick ascending limb development (GO:0072233)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	12						CCCCGCACCAcggcggcggcggc	0.749																																						ENST00000361360.2																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	12						c.(880-885)cac>ca		POU class 3 homeobox 3				18,2126		3,12,1057						2	1			4	52,4812		3,46,2383	no	coding	POU3F3	NM_006236.1		6,58,3440	A1A1,A1R,RR		1.0691,0.8396,0.9989				70,6938				SO:0001651	inframe_deletion	5455				metanephric ascending thin limb development|metanephric DCT cell differentiation|metanephric macula densa development|metanephric thick ascending limb development|negative regulation of apoptosis|positive regulation of cell proliferation	nucleus	sequence-specific DNA binding	g.chr2:105472850_105472852delCGG		CCDS33265.1	2q12.1	2011-06-20	2007-07-13		ENSG00000198914	ENSG00000198914		"Homeoboxes / POU class"	9216	protein-coding gene	gene with protein product		602480	"POU domain class 3, transcription factor 3"				Standard	NM_006236		Approved	BRN1, OTF8	uc010ywg.2	P20264	OTTHUMG00000153067	ENST00000361360.2:c.882_884delCGG	2.37:g.105472859_105472861delCGG	ENSP00000355001:p.Gly300del					RP11-13J10.1_ENST00000598623.1_RNA	p.HG294del	NM_006236.1	NP_006227.1	P20264	PO3F3_HUMAN			1	882_884	+			294			Gly-rich.|His-rich.		P78379|Q4ZG25	In_Frame_Del	DEL	ENST00000361360.2	37	c.882_884delCGG	CCDS33265.1																																																																																				0.749	POU3F3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329335.2			2	4						2	4	---	---	---	---	-	105472852	CGG	-	105472850	7	5	86	1	0	1	0	1	0	0	0	0	12276	535	19	0	884	0	POU3F3	2	105472850	In_Frame_Del	DEL	CGG	TCGA-EJ-7318-01B-11D-A32B-08	24942588	105472850	137726523	8	4432											
SPHKAP	80309	broad.mit.edu	37	chr2	228883536	228883536	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tggtgaacttcatcaatggaAtgcctcaggataacattgga	13	11	10	7	0	3	1	3	1	0	0	3	4	3	4	1	4	3	0	1	4	4	3			TCGA-EJ-7318-01B-11D-A32B-08	TCGA-EJ-7318-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b812ff8-df95-4cb8-994f-3781ffaa7283	aedb9142-7769-4ca6-b652-f7b81ce8166e	g.chr2:228883536A>G	ENST00000392056.3	-	7	2080	c.2034T>C	c.(2032-2034)caT>caC	p.H678H	SPHKAP_ENST00000344657.5_Silent_p.H678H	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	678						extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|Z disc (GO:0030018)	protein kinase A binding (GO:0051018)			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		CATCAATGGAATGCCTCAGGA	0.418																																						ENST00000392056.3																			0				NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185						c.(2032-2034)caT>caC		SPHK1 interactor, AKAP domain containing							256	234	242					2																	228883536		2203	4300	6503	SO:0001819	synonymous_variant	80309					cytoplasm	protein binding	g.chr2:228883536A>G		CCDS33389.1, CCDS46537.1	2q36.3	2010-08-20			ENSG00000153820	ENSG00000153820		"A-kinase anchor proteins"	30619	protein-coding gene	gene with protein product	"sphingosine kinase type 1-interacting protein"	611646				12080051, 11214970	Standard	NM_030623		Approved	SKIP	uc002vpq.2	Q2M3C7	OTTHUMG00000153584	ENST00000392056.3:c.2034T>C	2.37:g.228883536A>G						SPHKAP_ENST00000344657.5_Silent_p.H678H	p.H678H	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)	7	2080	-		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)	678					Q68DA3|Q68DR8|Q9C0I5	Silent	SNP	ENST00000392056.3	37	c.2034T>C	CCDS46537.1																																																																																				0.418	SPHKAP-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331750.1	NM_030623		103	173	0	0	0	1	0	103	173					G	228883536	A	G	228883536	2	3	86	1	0	0	0	0	0	0	0	1	15047	98	4	4		4	SPHKAP	2	228883536	Silent	SNP	A	TCGA-EJ-7318-01B-11D-A32B-08	123410686	228883536	14315837	9	4433											
CACNA1D	776	broad.mit.edu	37	chr3	53783437	53783437	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tctttgtgggctttgtcatcGttacatttcaggaacaagga	9	15	10	7	1	3	0	2	0	1	0	4	2	3	2	0	3	2	2	0	3	3	4	rs149170250		TCGA-EJ-7318-01B-11D-A32B-08	TCGA-EJ-7318-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b812ff8-df95-4cb8-994f-3781ffaa7283	aedb9142-7769-4ca6-b652-f7b81ce8166e	g.chr3:53783437G>A	ENST00000350061.5	+	27	3968	c.3457G>A	c.(3457-3459)Gtt>Att	p.V1153I	CACNA1D_ENST00000422281.2_Missense_Mutation_p.V1153I|CACNA1D_ENST00000540742.1_Missense_Mutation_p.V60I|CACNA1D_ENST00000288139.4_Missense_Mutation_p.V1173I	NM_001128840.1	NP_001122312.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit	1153	Dihydropyridine binding. {ECO:0000250}.				adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|energy reserve metabolic process (GO:0006112)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane repolarization during SA node cell action potential (GO:0086052)|positive regulation of calcium ion transport (GO:0051928)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of insulin secretion (GO:0050796)|regulation of potassium ion transmembrane transport (GO:1901379)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|sensory perception of sound (GO:0007605)|small molecule metabolic process (GO:0044281)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|ankyrin binding (GO:0030506)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)|voltage-gated calcium channel activity involved in cardiac muscle cell action potential (GO:0086007)|voltage-gated calcium channel activity involved SA node cell action potential (GO:0086059)			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	CTTTGTCATCGTTACATTTCA	0.418																																						ENST00000288139.3																			0				breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90						c.(3517-3519)Gtt>Att		calcium channel, voltage-dependent, L type, alpha 1D subunit	Verapamil(DB00661)	G	ILE/VAL,ILE/VAL,ILE/VAL	1,4405	2.1+/-5.4	0,1,2202	137	122	127		3517,3457,3457	5.9	1	3	dbSNP_134	127	0,8600		0,0,4300	no	missense,missense,missense	CACNA1D	NM_000720.2,NM_001128839.1,NM_001128840.1	29,29,29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	possibly-damaging,possibly-damaging,possibly-damaging	1173/2182,1153/2138,1153/2162	53783437	1,13005	2203	4300	6503	SO:0001583	missense	776				axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr3:53783437G>A	AB209171	CCDS2872.1, CCDS46848.1, CCDS46849.1	3p14.3	2012-03-07			ENSG00000157388	ENSG00000157388		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1391	protein-coding gene	gene with protein product		114206		CCHL1A2, CACNL1A2		1664412	Standard	NM_000720		Approved	Cav1.3, CACH3, CACN4	uc003dgu.5	Q01668	OTTHUMG00000158278	ENST00000350061.5:c.3457G>A	3.37:g.53783437G>A	ENSP00000288133:p.Val1153Ile					CACNA1D_ENST00000540742.1_Missense_Mutation_p.V60I|CACNA1D_ENST00000350061.5_Missense_Mutation_p.V1153I|CACNA1D_ENST00000422281.2_Missense_Mutation_p.V1153I	p.V1173I	NM_000720.2	NP_000711.1	Q01668	CAC1D_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	28	3635	+			1153					B0FYA3|Q13916|Q13931|Q71UT1|Q9UDC3	Missense_Mutation	SNP	ENST00000350061.5	37	c.3517G>A	CCDS46848.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.145907	0.77888	2.27E-4	0.0	ENSG00000157388	ENST00000350061;ENST00000288139;ENST00000422281;ENST00000481478;ENST00000540742	D;D;D;D;D	0.97404	-4.37;-4.37;-4.37;-4.37;-4.14	5.93	5.93	0.95920	.	0.000000	0.64402	D	0.000001	D	0.94703	0.8291	N	0.16201	0.385	0.80722	D	1	P;B;P;D;P	0.56287	0.507;0.154;0.869;0.975;0.64	B;B;B;P;B	0.48454	0.089;0.048;0.137;0.578;0.184	D	0.94353	0.7581	10	0.38643	T	0.18	.	19.3421	0.94347	0.0:0.0:1.0:0.0	.	1153;60;846;1153;1173	B0FYA3;F5H313;Q59GD8;Q01668;Q01668-2	.;.;.;CAC1D_HUMAN;.	I	1153;1173;1153;846;60	ENSP00000288133:V1153I;ENSP00000288139:V1173I;ENSP00000409174:V1153I;ENSP00000418014:V846I;ENSP00000438229:V60I	ENSP00000288139:V1173I	V	+	1	0	CACNA1D	53758477	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.789000	0.75110	2.826000	0.97356	0.655000	0.94253	GTT		0.418	CACNA1D-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350557.1	NM_000720		4	82	0	0	0	1	0	4	82					A	53783437	G	A	53783437	3	1	86	1	0	0	0	0	1	0	0	0	2541	1145	40	1	3735	1	CACNA1D	3	53783437	Missense_Mutation	SNP	G	TCGA-EJ-7318-01B-11D-A32B-08		53783437	144238993	10	4434											
EPHA3	2042	broad.mit.edu	37	chr3	89468541	89468541	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggaaggagttgttaccaaaaGtaagtaaagtagtcataaga	18	9	11	3	0	1	1	1	0	0	1	1	3	1	3	1	2	1	5	1	2	9	6			TCGA-EJ-7318-01B-11D-A32B-08	TCGA-EJ-7318-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b812ff8-df95-4cb8-994f-3781ffaa7283	aedb9142-7769-4ca6-b652-f7b81ce8166e	g.chr3:89468541G>T	ENST00000336596.2	+	11	2299		c.e11+1		EPHA3_ENST00000494014.1_Splice_Site	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN	EPH receptor A3						cell adhesion (GO:0007155)|cell migration (GO:0016477)|cellular response to retinoic acid (GO:0071300)|ephrin receptor signaling pathway (GO:0048013)|fasciculation of motor neuron axon (GO:0097156)|fasciculation of sensory neuron axon (GO:0097155)|positive regulation of neuron projection development (GO:0010976)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of epithelial to mesenchymal transition (GO:0010717)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule cytoskeleton organization (GO:0070507)|regulation of Rho GTPase activity (GO:0032319)	early endosome (GO:0005769)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|GPI-linked ephrin receptor activity (GO:0005004)			NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		GTTACCAAAAGTAAGTAAAGT	0.398										TSP Lung(6;0.00050)																												ENST00000336596.2																			0				NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139						c.e11+1		EPH receptor A3							89	84	86					3																	89468541		2203	4297	6500	SO:0001630	splice_region_variant	2042					extracellular region|integral to plasma membrane	ATP binding	g.chr3:89468541G>T	M83941	CCDS2922.1, CCDS46875.1	3p11.2	2013-02-11	2004-10-28		ENSG00000044524	ENSG00000044524	2.7.10.1	"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3387	protein-coding gene	gene with protein product		179611	"EphA3"	ETK, ETK1, TYRO4		1737782, 1311845	Standard	NM_005233		Approved	HEK, HEK4	uc003dqy.3	P29320	OTTHUMG00000159040	ENST00000336596.2:c.2074+1G>T	3.37:g.89468541G>T		TSP Lung(6;0.00050)				EPHA3_ENST00000494014.1_Splice_Site		NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)	11	2299	+	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)						Q9H2V3|Q9H2V4	Splice_Site	SNP	ENST00000336596.2	37		CCDS2922.1	.	.	.	.	.	.	.	.	.	.	G	15.48	2.847459	0.51164	.	.	ENSG00000044524	ENST00000336596;ENST00000494014	.	.	.	5.71	5.71	0.89125	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.8493	0.96733	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	EPHA3	89551231	1.000000	0.71417	1.000000	0.80357	0.128000	0.20619	9.869000	0.99810	2.701000	0.92244	0.563000	0.77884	.		0.398	EPHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352995.1	NM_005233	Intron	22	48	1	0	1.28384e-07	1	1.43488e-07	22	48					T	89468541	G	T	89468541	5	4	86	1	0	0	0	0	0	0	1	0	5168	1043	36	5	2143	5	EPHA3	3	89468541	Splice_Site	SNP	G	TCGA-EJ-7318-01B-11D-A32B-08	35685104	89468541	108553889	11	4435											
PPP2R3A	5523	broad.mit.edu	37	chr3	135722332	135722332	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cagcagactccagaggtgatCaaggtaagacccaacaattt	15	7	9	10	0	1	4	1	1	0	3	2	4	2	4	2	2	2	2	2	2	4	2			TCGA-EJ-7318-01B-11D-A32B-08	TCGA-EJ-7318-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b812ff8-df95-4cb8-994f-3781ffaa7283	aedb9142-7769-4ca6-b652-f7b81ce8166e	g.chr3:135722332C>T	ENST00000264977.3	+	2	2609	c.1992C>T	c.(1990-1992)atC>atT	p.I664I	PPP2R3A_ENST00000490467.1_Intron	NM_001190447.1|NM_002718.4	NP_001177376.1|NP_002709.2	Q06190	P2R3A_HUMAN	protein phosphatase 2, regulatory subunit B'', alpha	664					eye photoreceptor cell differentiation (GO:0001754)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of protein catabolic process (GO:0045732)|protein dephosphorylation (GO:0006470)|regulation of catalytic activity (GO:0050790)|regulation of cell motility involved in somitogenic axis elongation (GO:0090249)|somatic muscle development (GO:0007525)|somite development (GO:0061053)|Wnt signaling pathway involved in somitogenesis (GO:0090244)	protein phosphatase type 2A complex (GO:0000159)	calcium ion binding (GO:0005509)|protein phosphatase type 2A regulator activity (GO:0008601)			breast(2)|cervix(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						CAGAGGTGATCAAGGTAAGAC	0.353																																						ENST00000264977.3																			0				breast(2)|cervix(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						c.(1990-1992)atC>atT		protein phosphatase 2, regulatory subunit B'', alpha							56	54	54					3																	135722332		2202	4298	6500	SO:0001819	synonymous_variant	5523				protein dephosphorylation	protein phosphatase type 2A complex	calcium ion binding|protein binding|protein phosphatase type 2A regulator activity	g.chr3:135722332C>T	L12146	CCDS3087.1, CCDS3088.1, CCDS54642.1	3q22.2-q22.3	2013-01-10	2010-06-18	2002-04-26	ENSG00000073711	ENSG00000073711	3.1.3.16	"Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits", "EF-hand domain containing"	9307	protein-coding gene	gene with protein product		604944	"protein phosphatase 2 (formerly 2A), regulatory subunit B'' (PR 72), alpha isoform and (PR 130), beta isoform", "protein phosphatase 2 (formerly 2A), regulatory subunit B'', alpha"	PPP2R3		8392071	Standard	NM_002718		Approved		uc003eqv.2	Q06190	OTTHUMG00000159766	ENST00000264977.3:c.1992C>T	3.37:g.135722332C>T						PPP2R3A_ENST00000490467.1_Intron	p.I664I	NM_001190447.1|NM_002718.4	NP_001177376.1|NP_002709.2	Q06190	P2R3A_HUMAN			2	2609	+			664					A8KAE7|B4DNU1|B7ZAE3|Q06189|Q9NPQ5	Silent	SNP	ENST00000264977.3	37	c.1992C>T	CCDS3087.1																																																																																				0.353	PPP2R3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357232.1	NM_002718		18	66	0	0	0	1	0	18	66					T	135722332	C	T	135722332	2	4	86	1	0	0	0	0	0	0	0	1	12388	816	29	3		3	PPP2R3A	3	135722332	Silent	SNP	C	TCGA-EJ-7318-01B-11D-A32B-08	46253791	135722332	62300098	12	4436											
FGFBP2	83888	broad.mit.edu	37	chr4	15964674	15964674	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaattcctccccagtgcttcCttgcttttgcctcggggcct	3	14	9	15	1	0	0	0	0	0	0	4	1	3	0	6	2	3	2	6	2	1	5			TCGA-EJ-7318-01B-11D-A32B-08	TCGA-EJ-7318-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b812ff8-df95-4cb8-994f-3781ffaa7283	aedb9142-7769-4ca6-b652-f7b81ce8166e	g.chr4:15964674C>T	ENST00000259989.6	-	1	185	c.79G>A	c.(79-81)Gga>Aga	p.G27R	FGFBP2_ENST00000509331.1_Intron	NM_031950.3	NP_114156.1	Q9BYJ0	FGFP2_HUMAN	fibroblast growth factor binding protein 2	27						extracellular region (GO:0005576)				central_nervous_system(1)|lung(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	9						CCAGTGCTTCCTTGCTTTTGC	0.577																																						ENST00000259989.6																			0				central_nervous_system(1)|lung(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	9						c.(79-81)Gga>Aga		fibroblast growth factor binding protein 2							70	62	65					4																	15964674		2203	4300	6503	SO:0001583	missense	83888					extracellular space	growth factor binding	g.chr4:15964674C>T	AB021123	CCDS3419.1	4p15.32	2008-07-16			ENSG00000137441	ENSG00000137441			29451	protein-coding gene	gene with protein product	"killer-specific secretory protein of 37 kDa"	607713				11342666, 12322897	Standard	NM_031950		Approved	KSP37	uc003gon.3	Q9BYJ0	OTTHUMG00000128513	ENST00000259989.6:c.79G>A	4.37:g.15964674C>T	ENSP00000259989:p.Gly27Arg					FGFBP2_ENST00000509331.1_Intron	p.G27R	NM_031950.3	NP_114156.1	Q9BYJ0	FGFP2_HUMAN			1	185	-			27						Missense_Mutation	SNP	ENST00000259989.6	37	c.79G>A	CCDS3419.1	.	.	.	.	.	.	.	.	.	.	C	4.863	0.160354	0.09287	.	.	ENSG00000137441	ENST00000259989	T	0.14391	2.51	2.98	-0.787	0.10943	.	0.879670	0.09515	N	0.791814	T	0.05456	0.0144	N	0.08118	0	0.09310	N	1	B	0.09022	0.002	B	0.12156	0.007	T	0.45234	-0.9275	10	0.08179	T	0.78	-0.6653	6.8372	0.23943	0.0:0.3765:0.0:0.6235	.	27	Q9BYJ0	FGFP2_HUMAN	R	27	ENSP00000259989:G27R	ENSP00000259989:G27R	G	-	1	0	FGFBP2	15573772	0.183000	0.23186	0.009000	0.14445	0.046000	0.14306	0.239000	0.18023	-0.141000	0.11374	-0.157000	0.13467	GGA		0.577	FGFBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250324.1	NM_031950		12	36	0	0	0	1	0	12	36					T	15964674	C	T	15964674	3	4	86	1	0	0	0	0	1	0	0	0	5861	690	24	3	596	3	FGFBP2	4	15964674	Missense_Mutation	SNP	C	TCGA-EJ-7318-01B-11D-A32B-08		15964674	175189602	13	4437											
KIAA1211	57482	broad.mit.edu	37	chr4	57181022	57181022	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccgaggagccaggtatttgcGaggagcagaacccagaggcc	11	4	15	11	2	0	2	0	0	0	2	0	6	0	4	4	4	4	2	4	4	2	2			TCGA-EJ-7318-01B-11D-A32B-08	TCGA-EJ-7318-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b812ff8-df95-4cb8-994f-3781ffaa7283	aedb9142-7769-4ca6-b652-f7b81ce8166e	g.chr4:57181022G>A	ENST00000504228.1	+	6	1459	c.1354G>A	c.(1354-1356)Gag>Aag	p.E452K	KIAA1211_ENST00000264229.6_Missense_Mutation_p.E452K|KIAA1211_ENST00000541073.1_Missense_Mutation_p.E445K			Q6ZU35	K1211_HUMAN	KIAA1211	452	Glu-rich.									endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1)	65	Glioma(25;0.08)|all_neural(26;0.101)					AGGTATTTGCGAGGAGCAGAA	0.592																																						ENST00000504228.1																			0				endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1)	65						c.(1354-1356)Gag>Aag		KIAA1211							28	38	35					4																	57181022		1998	4175	6173	SO:0001583	missense	57482							g.chr4:57181022G>A	AB033037	CCDS43230.1	4q12	2012-08-03			ENSG00000109265	ENSG00000109265			29219	protein-coding gene	gene with protein product						10574462, 11230166	Standard	NM_020722		Approved		uc003hbk.2	Q6ZU35	OTTHUMG00000160749	ENST00000504228.1:c.1354G>A	4.37:g.57181022G>A	ENSP00000423366:p.Glu452Lys					KIAA1211_ENST00000541073.1_Missense_Mutation_p.E445K|KIAA1211_ENST00000264229.6_Missense_Mutation_p.E452K	p.E452K			Q6ZU35	K1211_HUMAN			6	1459	+	Glioma(25;0.08)|all_neural(26;0.101)		452			Glu-rich.		Q9NTE2|Q9NTP8|Q9ULK9	Missense_Mutation	SNP	ENST00000504228.1	37	c.1354G>A	CCDS43230.1	.	.	.	.	.	.	.	.	.	.	G	10.23	1.293813	0.23564	.	.	ENSG00000109265	ENST00000264229;ENST00000504228;ENST00000541073;ENST00000546221	T;T;T	0.12465	2.68;2.68;2.68	4.89	-2.07	0.07276	.	.	.	.	.	T	0.07818	0.0196	L	0.27053	0.805	0.09310	N	1	B;B;B	0.06786	0.001;0.0;0.0	B;B;B	0.04013	0.001;0.001;0.001	T	0.31613	-0.9937	9	0.37606	T	0.19	.	3.9128	0.09210	0.2849:0.3554:0.2808:0.0789	.	445;445;452	B7ZVZ4;F5H1N7;Q6ZU35	.;.;K1211_HUMAN	K	452;452;445;362	ENSP00000264229:E452K;ENSP00000423366:E452K;ENSP00000444006:E445K	ENSP00000264229:E452K	E	+	1	0	KIAA1211	56875779	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-0.030000	0.12308	-1.592000	0.01619	-1.598000	0.00824	GAG		0.592	KIAA1211-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362097.2	NM_020722		3	14	0	0	0	1	0	3	14					A	57181022	G	A	57181022	3	1	86	1	0	0	0	0	1	0	0	0	8215	1059	37	2	1372	2	KIAA1211	4	57181022	Missense_Mutation	SNP	G	TCGA-EJ-7318-01B-11D-A32B-08	41216348	57181022	133973254	14	4438											
EDIL3	10085	broad.mit.edu	37	chr5	83402534	83402534	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taagccccttcttattaagaCgtgcatagtagggataccat	12	12	8	9	1	1	1	0	0	1	1	1	2	1	2	3	1	3	2	3	1	6	7			TCGA-EJ-7318-01B-11D-A32B-08	TCGA-EJ-7318-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b812ff8-df95-4cb8-994f-3781ffaa7283	aedb9142-7769-4ca6-b652-f7b81ce8166e	g.chr5:83402534C>T	ENST00000296591.5	-	6	1002	c.584G>A	c.(583-585)cGt>cAt	p.R195H	EDIL3_ENST00000380138.3_Missense_Mutation_p.R185H	NM_005711.3	NP_005702.3	O43854	EDIL3_HUMAN	EGF-like repeats and discoidin I-like domains 3	195	F5/8 type C 1. {ECO:0000255|PROSITE- ProRule:PRU00081}.				cell adhesion (GO:0007155)|multicellular organismal development (GO:0007275)|positive regulation of cell-substrate adhesion (GO:0010811)	extracellular vesicular exosome (GO:0070062)|vesicle (GO:0031982)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)			cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(5)|skin(3)	31		Lung NSC(167;0.000121)|all_lung(232;0.000154)|Ovarian(174;0.0425)		OV - Ovarian serous cystadenocarcinoma(54;4.3e-40)|Epithelial(54;4.79e-32)|all cancers(79;1.54e-26)		CTTATTAAGACGTGCATAGTA	0.433																																						ENST00000296591.5																			0				cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(5)|skin(3)	31						c.(583-585)cGt>cAt		EGF-like repeats and discoidin I-like domains 3							185	182	183					5																	83402534		2203	4300	6503	SO:0001583	missense	10085				cell adhesion|multicellular organismal development	extracellular region	calcium ion binding|integrin binding	g.chr5:83402534C>T	U70312	CCDS4062.1, CCDS64195.1	5q14	2008-02-05			ENSG00000164176	ENSG00000164176			3173	protein-coding gene	gene with protein product		606018				9420328	Standard	NM_005711		Approved	DEL1	uc003kio.1	O43854	OTTHUMG00000119047	ENST00000296591.5:c.584G>A	5.37:g.83402534C>T	ENSP00000296591:p.Arg195His					EDIL3_ENST00000380138.3_Missense_Mutation_p.R185H	p.R195H	NM_005711.3	NP_005702.3	O43854	EDIL3_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;4.3e-40)|Epithelial(54;4.79e-32)|all cancers(79;1.54e-26)	6	1002	-		Lung NSC(167;0.000121)|all_lung(232;0.000154)|Ovarian(174;0.0425)	195			F5/8 type C 1.		B2R763|O43855|Q5D094|Q8N610	Missense_Mutation	SNP	ENST00000296591.5	37	c.584G>A	CCDS4062.1	.	.	.	.	.	.	.	.	.	.	C	28.7	4.939120	0.92526	.	.	ENSG00000164176	ENST00000296591;ENST00000380138	D;D	0.98531	-4.98;-4.98	5.55	4.67	0.58626	Coagulation factor 5/8 C-terminal type domain (3);Galactose-binding domain-like (1);	0.116075	0.64402	D	0.000010	D	0.99336	0.9767	H	0.96805	3.885	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.996;0.999	D	0.98503	1.0615	10	0.87932	D	0	-19.5171	16.2994	0.82801	0.0:0.8673:0.1327:0.0	.	185;195	O43854-2;O43854	.;EDIL3_HUMAN	H	195;185	ENSP00000296591:R195H;ENSP00000369483:R185H	ENSP00000296591:R195H	R	-	2	0	EDIL3	83438290	1.000000	0.71417	0.414000	0.26521	0.993000	0.82548	7.277000	0.78572	1.327000	0.45338	0.650000	0.86243	CGT		0.433	EDIL3-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239258.1	NM_005711		5	169	0	0	0	1	0	5	169					T	83402534	C	T	83402534	3	4	86	1	0	0	0	0	1	0	0	0	4915	536	19	1	882	1	EDIL3	5	83402534	Missense_Mutation	SNP	C	TCGA-EJ-7318-01B-11D-A32B-08		83402534	97512726	15	4439											
PCDHB8	56128	broad.mit.edu	37	chr5	140559000	140559000	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcctacaccctgttcgtccGcgagaacaacagccccgccc	8	6	7	20	4	0	1	0	0	0	1	3	2	2	1	6	0	4	1	6	0	3	2			TCGA-EJ-7318-01B-11D-A32B-08	TCGA-EJ-7318-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b812ff8-df95-4cb8-994f-3781ffaa7283	aedb9142-7769-4ca6-b652-f7b81ce8166e	g.chr5:140559000G>A	ENST00000239444.2	+	1	1630	c.1385G>A	c.(1384-1386)cGc>cAc	p.R462H	PCDHB16_ENST00000361016.2_5'Flank	NM_019120.3	NP_061993.2	Q9UN66	PCDB8_HUMAN	protocadherin beta 8	462	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.R462P(1)		NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CTGTTCGTCCGCGAGAACAAC	0.627																																						ENST00000239444.2																			1	Substitution - Missense(1)	p.R462P(1)	lung(1)	NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83						c.(1384-1386)cGc>cAc									101	145	130					5																	140559000		2203	4297	6500	SO:0001583	missense	0				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140559000G>A	AF152501	CCDS4250.1	5q31	2010-01-26			ENSG00000120322	ENSG00000120322		"Cadherins / Protocadherins : Clustered"	8693	other	protocadherin		606334				10380929	Standard	NM_019120		Approved	PCDH-BETA8, PCDH3I	uc011dai.2	Q9UN66	OTTHUMG00000129621	ENST00000239444.2:c.1385G>A	5.37:g.140559000G>A	ENSP00000239444:p.Arg462His						p.R462H	NM_019120.3	NP_061993.2	Q9UN66	PCDB8_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1630	+			462			Cadherin 5.		B9EGV1	Missense_Mutation	SNP	ENST00000239444.2	37	c.1385G>A	CCDS4250.1	.	.	.	.	.	.	.	.	.	.	G	9.134	1.012079	0.19277	.	.	ENSG00000120322	ENST00000239444	T	0.01767	4.65	4.26	-0.0626	0.13780	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.01730	0.0055	L	0.45581	1.43	0.09310	N	1	B	0.28258	0.205	B	0.26969	0.075	T	0.46303	-0.9201	9	0.37606	T	0.19	.	1.8958	0.03257	0.2297:0.25:0.3933:0.127	.	462	Q9UN66	PCDB8_HUMAN	H	462	ENSP00000239444:R462H	ENSP00000239444:R462H	R	+	2	0	PCDHB8	140539184	0.000000	0.05858	0.705000	0.30386	0.561000	0.35649	-4.039000	0.00308	0.246000	0.21394	0.305000	0.20034	CGC		0.627	PCDHB8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251816.2	NM_019120		21	325	0	0	0	1	0	21	325					A	140559000	G	A	140559000	3	1	86	1	0	0	0	0	1	0	0	0	11548	1087	38	1	1387	1	PCDHB8	5	140559000	Missense_Mutation	SNP	G	TCGA-EJ-7318-01B-11D-A32B-08	57156466	140559000	40356260	16	4440											
GRIA1	2890	broad.mit.edu	37	chr5	153174234	153174234	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cgagcaggggcttttggacaAattgaaaaacaaatggtggt	14	9	13	5	1	0	1	0	1	0	0	0	3	0	2	0	5	2	2	0	5	4	3			TCGA-EJ-7318-01B-11D-A32B-08	TCGA-EJ-7318-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b812ff8-df95-4cb8-994f-3781ffaa7283	aedb9142-7769-4ca6-b652-f7b81ce8166e	g.chr5:153174234A>T	ENST00000285900.5	+	14	2667	c.2324A>T	c.(2323-2325)aAa>aTa	p.K775I	GRIA1_ENST00000518783.1_Missense_Mutation_p.K785I|GRIA1_ENST00000518142.1_Missense_Mutation_p.K695I|GRIA1_ENST00000448073.4_Intron|GRIA1_ENST00000340592.5_Intron|GRIA1_ENST00000521843.2_Missense_Mutation_p.K706I	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1	775					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|long-term memory (GO:0007616)|receptor internalization (GO:0031623)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|axonal spine (GO:0044308)|cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|dendrite membrane (GO:0032590)|dendritic spine (GO:0043197)|endocytic vesicle membrane (GO:0030666)|endoplasmic reticulum (GO:0005783)|neuron spine (GO:0044309)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|PDZ domain binding (GO:0030165)			NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Perampanel(DB08883)|Sevoflurane(DB01236)	CTTTTGGACAAATTGAAAAAC	0.443																																						ENST00000285900.5																			0				NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81						c.(2323-2325)aAa>aTa		glutamate receptor, ionotropic, AMPA 1	Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)						71	72	72					5																	153174234		2203	4300	6503	SO:0001583	missense	0				synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding	g.chr5:153174234A>T		CCDS4322.1, CCDS47318.1, CCDS58986.1, CCDS58987.1, CCDS58988.1, CCDS58989.1	5q33	2012-08-29			ENSG00000155511	ENSG00000155511		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4571	protein-coding gene	gene with protein product		138248		GLUR1		1652753, 1319477	Standard	NM_000827		Approved	GluA1, GLURA	uc011dcy.2	P42261	OTTHUMG00000130148	ENST00000285900.5:c.2324A>T	5.37:g.153174234A>T	ENSP00000285900:p.Lys775Ile					GRIA1_ENST00000518142.1_Missense_Mutation_p.K695I|GRIA1_ENST00000518783.1_Missense_Mutation_p.K785I|GRIA1_ENST00000521843.2_Missense_Mutation_p.K706I|GRIA1_ENST00000340592.5_Intron|GRIA1_ENST00000448073.4_Intron	p.K775I	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		14	2667	+		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	775					B7Z2S0|B7Z2W8|B7Z3F6|B7Z9G9|D3DQI4|E7ESV8|Q2NKM6	Missense_Mutation	SNP	ENST00000285900.5	37	c.2324A>T	CCDS4322.1	.	.	.	.	.	.	.	.	.	.	A	16.31	3.087250	0.55968	.	.	ENSG00000155511	ENST00000285900;ENST00000518142;ENST00000521843;ENST00000544794;ENST00000518783	T;T;T;T;T	0.34472	1.36;1.36;1.36;1.36;1.36	5.27	4.09	0.47781	Ionotropic glutamate receptor (2);	0.000000	0.85682	D	0.000000	T	0.45518	0.1346	L	0.48935	1.535	0.80722	D	1	D;B;D	0.89917	1.0;0.105;0.999	D;P;D	0.91635	0.999;0.544;0.987	T	0.45716	-0.9242	10	0.02654	T	1	.	11.9127	0.52747	0.8543:0.1457:0.0:0.0	.	785;695;775	E7ESV8;B7Z3F6;P42261	.;.;GRIA1_HUMAN	I	775;695;708;706;785	ENSP00000285900:K775I;ENSP00000427920:K695I;ENSP00000427864:K708I;ENSP00000442108:K706I;ENSP00000428994:K785I	ENSP00000285900:K775I	K	+	2	0	GRIA1	153154427	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.072000	0.93986	0.928000	0.37168	0.528000	0.53228	AAA		0.443	GRIA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252456.3			5	51	0	0	0	1	0	5	51					T	153174234	A	T	153174234	3	4	86	1	0	0	0	0	1	0	0	0	6767	14	1	5	2378	5	GRIA1	5	153174234	Missense_Mutation	SNP	A	TCGA-EJ-7318-01B-11D-A32B-08	12615234	153174234	27741026	17	4441											
GIGYF1	64599	broad.mit.edu	37	chr7	100281226	100281226	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	accctgagtcgaagagttaaTtggtatgtcccaaagactgg	12	10	11	8	1	0	3	0	1	0	2	2	4	1	3	2	2	0	2	2	2	4	3	rs553089567		TCGA-EJ-7318-01B-11D-A32B-08	TCGA-EJ-7318-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b812ff8-df95-4cb8-994f-3781ffaa7283	aedb9142-7769-4ca6-b652-f7b81ce8166e	g.chr7:100281226T>C	ENST00000275732.5	-	17	3208	c.1999A>G	c.(1999-2001)Att>Gtt	p.I667V	GIGYF1_ENST00000471340.2_5'Flank	NM_022574.4	NP_072096.2	O75420	PERQ1_HUMAN	GRB10 interacting GYF protein 1	667					insulin-like growth factor receptor signaling pathway (GO:0048009)					central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)					GAAGAGTTAATTGGTATGTCC	0.597													T|||	1	0.000199681	8e-04	0	5008	,	,		17435	0		0	False		,,,				2504	0					ENST00000275732.5																			0				central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23						c.(1999-2001)Att>Gtt		GRB10 interacting GYF protein 1							138	136	136					7																	100281226		2203	4300	6503	SO:0001583	missense	64599							g.chr7:100281226T>C	AF053356	CCDS34708.1	7q22	2008-02-11	2008-02-11	2008-02-11	ENSG00000146830	ENSG00000146830			9126	protein-coding gene	gene with protein product	"GYF domain containing 1"	612064	"PERQ amino acid rich, with GYF domain 1"	PERQ1		9799793, 12771153	Standard	NM_022574		Approved	GYF1	uc003uwg.1	O75420	OTTHUMG00000157036	ENST00000275732.5:c.1999A>G	7.37:g.100281226T>C	ENSP00000275732:p.Ile667Val						p.I667V	NM_022574.4	NP_072096.2	O75420	PERQ1_HUMAN			17	3208	-	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)		667					Q6Y7W7|Q8WZ38	Missense_Mutation	SNP	ENST00000275732.5	37	c.1999A>G	CCDS34708.1	.	.	.	.	.	.	.	.	.	.	.	13.00	2.107235	0.37145	.	.	ENSG00000146830	ENST00000539430;ENST00000275732	D	0.83075	-1.68	4.05	4.05	0.47172	.	0.383973	0.25416	N	0.030835	T	0.64125	0.2570	N	0.14661	0.345	0.35855	D	0.827047	B	0.31026	0.304	B	0.27500	0.08	T	0.64175	-0.6469	10	0.21540	T	0.41	-1.0625	6.0228	0.19638	0.0:0.115:0.0:0.885	.	667	O75420	PERQ1_HUMAN	V	386;667	ENSP00000275732:I667V	ENSP00000275732:I667V	I	-	1	0	GIGYF1	100119162	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	1.655000	0.37345	1.699000	0.51192	0.260000	0.18958	ATT		0.597	GIGYF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347205.2	NM_022574		10	140	0	0	0	1	0	10	140					C	100281226	T	C	100281226	3	2	86	1	0	0	0	0	1	0	0	0	6377	1493	52	4	1140	4	GIGYF1	7	100281226	Missense_Mutation	SNP	T	TCGA-EJ-7318-01B-11D-A32B-08		100281226	58857437	18	4442											
COL22A1	169044	broad.mit.edu	37	chr8	139809072	139809072	+	Frame_Shift_Del	DEL	T	T	-																															agatgcttaccttttcacccTtttccccttggccaaaaggt																										TCGA-EJ-7318-01B-11D-A32B-08	TCGA-EJ-7318-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b812ff8-df95-4cb8-994f-3781ffaa7283	aedb9142-7769-4ca6-b652-f7b81ce8166e	g.chr8:139809072delT	ENST00000303045.6	-	12	2032	c.1586delA	c.(1585-1587)aagfs	p.K529fs	COL22A1_ENST00000435777.1_Frame_Shift_Del_p.K529fs	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	529	Collagen-like 2.|Gly-rich.|Pro-rich.				extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			CTTTTCACCCTTTTCCCCTTG	0.463										HNSCC(7;0.00092)																												ENST00000303045.6																			0				breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211						c.(1585-1587)agfs		collagen, type XXII, alpha 1							251	246	248					8																	139809072		2203	4300	6503	SO:0001589	frameshift_variant	169044				cell adhesion	collagen|cytoplasm	structural molecule activity	g.chr8:139809072delT	AF406780	CCDS6376.1	8q24.3	2013-01-16			ENSG00000169436	ENSG00000169436		"Collagens"	22989	protein-coding gene	gene with protein product		610026					Standard	NM_152888		Approved		uc003yvd.3	Q8NFW1	OTTHUMG00000150035	ENST00000303045.6:c.1586delA	8.37:g.139809072delT	ENSP00000303153:p.Lys529fs	HNSCC(7;0.00092)				COL22A1_ENST00000435777.1_Frame_Shift_Del_p.K529fs	p.K529fs	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0517)		12	2032	-	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		529			Collagen-like 2.|Gly-rich.|Pro-rich.		B7ZMH0|C9K0G4|Q8IVT9	Frame_Shift_Del	DEL	ENST00000303045.6	37	c.1586delA	CCDS6376.1																																																																																				0.463	COL22A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000315905.2	XM_291257		7	450						7	450	---	---	---	---	-	139809072	T	-	139809072	7	5	86	1	0	1	0	1	0	0	0	0	3681	1609	56	0	3510	0	COL22A1	8	139809072	Frame_Shift_Del	DEL	T	TCGA-EJ-7318-01B-11D-A32B-08		139809072	6554950	19	4443											
GRIN3A	116443	broad.mit.edu	37	chr9	104448995	104448995	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtggctacagctcttgcgAccagctccatagcatcttgt	7	12	9	13	1	2	0	0	0	2	0	3	1	3	0	2	1	5	4	2	1	2	4			TCGA-EJ-7318-01B-11D-A32B-08	TCGA-EJ-7318-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b812ff8-df95-4cb8-994f-3781ffaa7283	aedb9142-7769-4ca6-b652-f7b81ce8166e	g.chr9:104448995A>C	ENST00000361820.3	-	2	1787	c.1187T>G	c.(1186-1188)gTc>gGc	p.V396G		NM_133445.2	NP_597702.2	Q8TCU5	NMD3A_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3A	396					calcium ion transport (GO:0006816)|dendrite development (GO:0016358)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|prepulse inhibition (GO:0060134)|response to ethanol (GO:0045471)|rhythmic process (GO:0048511)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|identical protein binding (GO:0042802)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|neurotransmitter binding (GO:0042165)|protein phosphatase 2A binding (GO:0051721)			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Acetylcysteine(DB06151)|Amantadine(DB00915)|Atomoxetine(DB00289)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Gabapentin(DB00996)|Halothane(DB01159)|Ketamine(DB01221)|Ketobemidone(DB06738)|Memantine(DB01043)|Methadone(DB00333)|Milnacipran(DB04896)|Orphenadrine(DB01173)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Procaine(DB00721)|Secobarbital(DB00418)|Tramadol(DB00193)	AGCTCTTGCGACCAGCTCCAT	0.498																																						ENST00000361820.3																			0				breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80						c.(1186-1188)gTc>gGc		glutamate receptor, ionotropic, N-methyl-D-aspartate 3A	Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740)						124	94	104					9																	104448995		2203	4300	6503	SO:0001583	missense	116443				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|N-methyl-D-aspartate selective glutamate receptor activity|protein phosphatase 2A binding	g.chr9:104448995A>C		CCDS6758.1	9q31.1	2012-08-29			ENSG00000198785	ENSG00000198785		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	16767	protein-coding gene	gene with protein product		606650					Standard	NM_133445		Approved	GluN3A	uc004bbp.2	Q8TCU5	OTTHUMG00000020387	ENST00000361820.3:c.1187T>G	9.37:g.104448995A>C	ENSP00000355155:p.Val396Gly						p.V396G	NM_133445.2	NP_597702.2	Q8TCU5	NMD3A_HUMAN			2	1787	-		Acute lymphoblastic leukemia(62;0.0568)	396					B3DLF9|Q5VTR3|Q8TF29|Q8WXI6	Missense_Mutation	SNP	ENST00000361820.3	37	c.1187T>G	CCDS6758.1	.	.	.	.	.	.	.	.	.	.	A	22.9	4.351005	0.82132	.	.	ENSG00000198785	ENST00000361820	D	0.87966	-2.32	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	D	0.90638	0.7064	L	0.52573	1.65	0.80722	D	1	D	0.55800	0.973	P	0.59948	0.866	D	0.91557	0.5261	10	0.87932	D	0	.	16.2147	0.82198	1.0:0.0:0.0:0.0	.	396	Q8TCU5	NMD3A_HUMAN	G	396	ENSP00000355155:V396G	ENSP00000355155:V396G	V	-	2	0	GRIN3A	103488816	1.000000	0.71417	0.989000	0.46669	0.995000	0.86356	7.229000	0.78088	2.231000	0.72958	0.460000	0.39030	GTC		0.498	GRIN3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053453.1			4	80	0	0	0	1	0	4	80					C	104448995	A	C	104448995	3	2	86	1	0	0	0	0	1	0	0	0	6783	275	10	5	2192	5	GRIN3A	9	104448995	Missense_Mutation	SNP	A	TCGA-EJ-7318-01B-11D-A32B-08		104448995	36764436	20	4444											
NUP188	23511	broad.mit.edu	37	chr9	131765100	131765100	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgtttgtatcttagacacCtagtgcctctcggaagtccc	7	13	9	12	1	2	1	0	0	2	1	4	2	3	2	3	1	1	3	3	1	4	4			TCGA-EJ-7318-01B-11D-A32B-08	TCGA-EJ-7318-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b812ff8-df95-4cb8-994f-3781ffaa7283	aedb9142-7769-4ca6-b652-f7b81ce8166e	g.chr9:131765100C>T	ENST00000372577.2	+	37	4163	c.4142C>T	c.(4141-4143)cCt>cTt	p.P1381L	RP11-167N5.5_ENST00000594418.1_lincRNA	NM_015354.1	NP_056169.1	Q5SRE5	NU188_HUMAN	nucleoporin 188kDa	1381					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)				breast(2)|central_nervous_system(3)|endometrium(6)|kidney(4)|large_intestine(9)|lung(20)|ovary(6)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	60						TCTTAGACACCTAGTGCCTCT	0.562																																						ENST00000372577.2																			0				breast(2)|central_nervous_system(3)|endometrium(6)|kidney(4)|large_intestine(9)|lung(20)|ovary(6)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	60						c.(4141-4143)cCt>cTt		nucleoporin 188kDa							88	82	84					9																	131765100		2203	4300	6503	SO:0001583	missense	23511				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding	g.chr9:131765100C>T	D79991	CCDS35156.1	9q34.13	2014-01-28	2004-03-19	2004-03-24	ENSG00000095319	ENSG00000095319			17859	protein-coding gene	gene with protein product		615587	"KIAA0169"	KIAA0169		11029043	Standard	NM_015354		Approved		uc004bws.2	Q5SRE5	OTTHUMG00000020768	ENST00000372577.2:c.4142C>T	9.37:g.131765100C>T	ENSP00000361658:p.Pro1381Leu						p.P1381L	NM_015354.1	NP_056169.1	Q5SRE5	NU188_HUMAN			37	4163	+			1381					Q14675|Q2TA87|Q7Z3K8|Q8IWF1	Missense_Mutation	SNP	ENST00000372577.2	37	c.4142C>T	CCDS35156.1	.	.	.	.	.	.	.	.	.	.	C	9.625	1.134976	0.21123	.	.	ENSG00000095319	ENST00000356693;ENST00000372577	T	0.30714	1.52	5.93	5.93	0.95920	.	0.259471	0.41500	D	0.000879	T	0.27349	0.0671	L	0.40543	1.245	0.34294	D	0.683585	B;B	0.13594	0.001;0.008	B;B	0.16722	0.001;0.016	T	0.24977	-1.0145	10	0.07813	T	0.8	-20.8526	19.3319	0.94293	0.0:1.0:0.0:0.0	.	714;1381	E9PET9;Q5SRE5	.;NU188_HUMAN	L	1270;1381	ENSP00000361658:P1381L	ENSP00000349125:P1270L	P	+	2	0	NUP188	130804921	0.286000	0.24305	0.957000	0.39632	0.288000	0.27193	3.578000	0.53892	2.815000	0.96918	0.561000	0.74099	CCT		0.562	NUP188-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054529.2			12	45	0	0	0	1	0	12	45					T	131765100	C	T	131765100	3	4	86	1	0	0	0	0	1	0	0	0	10758	681	24	3	4288	3	NUP188	9	131765100	Missense_Mutation	SNP	C	TCGA-EJ-7318-01B-11D-A32B-08	27316105	131765100	9448331	21	4445											
ITGA8	8516	broad.mit.edu	37	chr10	15590512	15590512	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	tcaggactgcgctttctcctCcttcgagtcgtcccactgca	5	12	8	16	3	2	0	1	0	1	0	7	2	4	1	3	1	2	2	3	1	0	2			TCGA-EJ-7318-01B-11D-A32B-08	TCGA-EJ-7318-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b812ff8-df95-4cb8-994f-3781ffaa7283	aedb9142-7769-4ca6-b652-f7b81ce8166e	g.chr10:15590512C>G	ENST00000378076.3	-	27	3175	c.2822G>C	c.(2821-2823)gGa>gCa	p.G941A		NM_003638.1	NP_003629	P53708	ITA8_HUMAN	integrin, alpha 8	941					brain development (GO:0007420)|cell projection organization (GO:0030030)|cell-matrix adhesion (GO:0007160)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|integrin-mediated signaling pathway (GO:0007229)|kidney development (GO:0001822)|memory (GO:0007613)|mesodermal cell differentiation (GO:0048333)|metanephros development (GO:0001656)|positive regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation (GO:2000721)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|single organismal cell-cell adhesion (GO:0016337)|smooth muscle tissue development (GO:0048745)|substrate adhesion-dependent cell spreading (GO:0034446)	apical part of cell (GO:0045177)|cell surface (GO:0009986)|dendritic spine membrane (GO:0032591)|endoplasmic reticulum (GO:0005783)|focal adhesion (GO:0005925)|integrin alpha8-beta1 complex (GO:0034678)|integrin complex (GO:0008305)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	metal ion binding (GO:0046872)			NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						GCTTTCTCCTCCTTCGAGTCG	0.473																																						ENST00000378076.3																			0				NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						c.(2821-2823)gGa>gCa		integrin, alpha 8							193	157	169					10																	15590512		2203	4300	6503	SO:0001583	missense	8516				cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development	integrin complex	receptor activity	g.chr10:15590512C>G	L36531	CCDS31155.1	10p13	2010-03-23			ENSG00000077943	ENSG00000077943		"Integrins"	6144	protein-coding gene	gene with protein product		604063				7768999	Standard	XM_005252633		Approved		uc001ioc.1	P53708	OTTHUMG00000017733	ENST00000378076.3:c.2822G>C	10.37:g.15590512C>G	ENSP00000367316:p.Gly941Ala						p.G941A	NM_003638.1	NP_003629.1	P53708	ITA8_HUMAN			27	3175	-			941					B0YJ31|Q5VX94	Missense_Mutation	SNP	ENST00000378076.3	37	c.2822G>C	CCDS31155.1	.	.	.	.	.	.	.	.	.	.	C	17.27	3.346793	0.61073	.	.	ENSG00000077943	ENST00000378076;ENST00000538044	T	0.43688	0.94	5.71	5.71	0.89125	.	0.267720	0.44483	D	0.000449	T	0.40815	0.1132	L	0.54323	1.7	0.35984	D	0.836255	P;P	0.43287	0.802;0.701	B;B	0.40285	0.325;0.174	T	0.45131	-0.9282	10	0.19590	T	0.45	.	16.7697	0.85534	0.0:1.0:0.0:0.0	.	926;941	F5H818;P53708	.;ITA8_HUMAN	A	941;926	ENSP00000367316:G941A	ENSP00000367316:G941A	G	-	2	0	ITGA8	15630518	1.000000	0.71417	0.922000	0.36590	0.782000	0.44232	3.344000	0.52174	2.707000	0.92482	0.637000	0.83480	GGA		0.473	ITGA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046987.1	NM_003638		7	45	0	0	0	1	0	7	45					G	15590512	C	G	15590512	3	3	86	1	0	0	0	0	1	0	0	0	7882	855	30	5	385	5	ITGA8	10	15590512	Missense_Mutation	SNP	C	TCGA-EJ-7318-01B-11D-A32B-08		15590512	119944235	22	4446											
ST8SIA6	338596	broad.mit.edu	37	chr10	17362963	17362963	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgtattctttgggcatctGatggaaaccatgtttaggta	9	15	11	6	0	2	1	0	1	2	0	2	2	2	2	1	3	1	5	1	3	4	6			TCGA-EJ-7318-01B-11D-A32B-08	TCGA-EJ-7318-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b812ff8-df95-4cb8-994f-3781ffaa7283	aedb9142-7769-4ca6-b652-f7b81ce8166e	g.chr10:17362963G>T	ENST00000377602.4	-	8	1185	c.1111C>A	c.(1111-1113)Cag>Aag	p.Q371K		NM_001004470.1	NP_001004470.1	P61647	SIA8F_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 6	371					carbohydrate biosynthetic process (GO:0016051)|cellular protein metabolic process (GO:0044267)|ganglioside biosynthetic process (GO:0001574)|glycolipid biosynthetic process (GO:0009247)|glycoprotein metabolic process (GO:0009100)|oligosaccharide metabolic process (GO:0009311)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|protein O-linked glycosylation (GO:0006493)|sialylation (GO:0097503)	Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)	sialyltransferase activity (GO:0008373)			endometrium(3)|kidney(3)|large_intestine(4)|liver(1)|lung(24)|ovary(1)|skin(1)	37						TTGGGCATCTGATGGAAACCA	0.403																																						ENST00000377602.4																			0				endometrium(3)|kidney(3)|large_intestine(4)|liver(1)|lung(24)|ovary(1)|skin(1)	37						c.(1111-1113)Cag>Aag		ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 6							258	242	247					10																	17362963		2203	4300	6503	SO:0001583	missense	338596				post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity	g.chr10:17362963G>T		CCDS31158.1	10p13	2013-03-01	2005-02-07	2005-02-07	ENSG00000148488	ENSG00000148488		"Sialyltransferases"	23317	protein-coding gene	gene with protein product	"ST8Sia VI"	610139	"sialyltransferase 8F (alpha-2, 8-sialyltransferase)"	SIAT8F		11980897	Standard	XR_242697		Approved		uc001ipd.3	P61647	OTTHUMG00000017748	ENST00000377602.4:c.1111C>A	10.37:g.17362963G>T	ENSP00000366827:p.Gln371Lys						p.Q371K	NM_001004470.1	NP_001004470.1	P61647	SIA8F_HUMAN			8	1185	-			371					B0YJ97|B9EH72|Q5VZH4	Missense_Mutation	SNP	ENST00000377602.4	37	c.1111C>A	CCDS31158.1	.	.	.	.	.	.	.	.	.	.	G	13.87	2.365931	0.41902	.	.	ENSG00000148488	ENST00000377602	T	0.28666	1.6	5.5	3.64	0.41730	.	0.273018	0.41605	N	0.000844	T	0.13841	0.0335	N	0.11789	0.175	0.31074	N	0.712739	B	0.02656	0.0	B	0.06405	0.002	T	0.25222	-1.0138	10	0.06236	T	0.91	-3.5386	9.4845	0.38922	0.0:0.6798:0.2304:0.0898	.	371	P61647	SIA8F_HUMAN	K	371	ENSP00000366827:Q371K	ENSP00000366827:Q371K	Q	-	1	0	ST8SIA6	17402969	1.000000	0.71417	0.989000	0.46669	0.949000	0.60115	2.690000	0.47001	0.866000	0.35629	0.650000	0.86243	CAG		0.403	ST8SIA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047036.1	NM_001004470		10	255	1	0	2.17888e-05	1	2.38838e-05	10	255					T	17362963	G	T	17362963	3	4	86	1	0	0	0	0	1	0	0	0	15235	1299	45	5	89	5	ST8SIA6	10	17362963	Missense_Mutation	SNP	G	TCGA-EJ-7318-01B-11D-A32B-08	1772451	17362963	118171784	23	4447											
MYST4	23522	broad.mit.edu	37	chr10	76729799	76729799	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ataatatgcttttttgtgatTcctgtgatagaggatttcat	10	19	8	4	0	1	3	1	2	0	1	2	4	2	4	1	1	1	1	1	1	3	8			TCGA-EJ-7318-01B-11D-A32B-08	TCGA-EJ-7318-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b812ff8-df95-4cb8-994f-3781ffaa7283	aedb9142-7769-4ca6-b652-f7b81ce8166e	g.chr10:76729799T>C	ENST00000287239.4	+	6	1357	c.868T>C	c.(868-870)Tcc>Ccc	p.S290P	KAT6B_ENST00000372725.1_Missense_Mutation_p.S290P|KAT6B_ENST00000372711.1_Missense_Mutation_p.S290P|KAT6B_ENST00000372724.1_Missense_Mutation_p.S290P|KAT6B_ENST00000372714.1_Missense_Mutation_p.S290P	NM_001256468.1|NM_012330.3	NP_001243397.1|NP_036462.2	Q8WYB5	KAT6B_HUMAN	K(lysine) acetyltransferase 6B	290					chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone H3 acetylation (GO:0043966)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	acetyltransferase activity (GO:0016407)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)										TTTTTGTGATTCCTGTGATAG	0.318																																						ENST00000287239.4																			0											c.(868-870)Tcc>Ccc		K(lysine) acetyltransferase 6B							66	64	65					10																	76729799		2203	4300	6503	SO:0001583	missense	23522				histone H3 acetylation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription factor binding|zinc ion binding	g.chr10:76729799T>C	AF113514	CCDS7345.1, CCDS58084.1, CCDS58085.1	10q22.2	2013-01-28	2011-07-21	2011-07-21	ENSG00000156650	ENSG00000156650		"Chromatin-modifying enzymes / K-acetyltransferases", "Zinc fingers, C2HC-type containing", "Zinc fingers, PHD-type"	17582	protein-coding gene	gene with protein product	"MOZ-related factor"	605880	"MYST histone acetyltransferase (monocytic leukemia) 4"	MYST4		9205841, 10497217	Standard	NM_012330		Approved	querkopf, qkf, Morf, MOZ2, ZC2HC6B	uc001jwn.2	Q8WYB5	OTTHUMG00000018509	ENST00000287239.4:c.868T>C	10.37:g.76729799T>C	ENSP00000287239:p.Ser290Pro					KAT6B_ENST00000372711.1_Missense_Mutation_p.S290P|KAT6B_ENST00000372714.1_Missense_Mutation_p.S290P|KAT6B_ENST00000372724.1_Missense_Mutation_p.S290P|KAT6B_ENST00000372725.1_Missense_Mutation_p.S290P	p.S290P	NM_001256468.1|NM_012330.3	NP_001243397.1|NP_036462.2	Q8WYB5	MYST4_HUMAN			6	1357	+			290					O15087|Q86Y05|Q8WU81|Q9UKW2|Q9UKW3|Q9UKX0	Missense_Mutation	SNP	ENST00000287239.4	37	c.868T>C	CCDS7345.1	.	.	.	.	.	.	.	.	.	.	T	21.5	4.156618	0.78114	.	.	ENSG00000156650	ENST00000372725;ENST00000372724;ENST00000287239;ENST00000372714;ENST00000372711	D;D;D;D;D	0.85088	-1.94;-1.94;-1.94;-1.94;-1.94	6.05	6.05	0.98169	.	0.000000	0.49916	D	0.000137	D	0.93161	0.7822	M	0.85299	2.745	0.40205	D	0.977567	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.997;0.997;0.999	D	0.94337	0.7567	10	0.87932	D	0	-9.2128	16.5932	0.84781	0.0:0.0:0.0:1.0	.	290;290;290	Q8WYB5-2;Q8WYB5-3;Q8WYB5	.;.;KAT6B_HUMAN	P	290	ENSP00000361810:S290P;ENSP00000361809:S290P;ENSP00000287239:S290P;ENSP00000361799:S290P;ENSP00000361796:S290P	ENSP00000287239:S290P	S	+	1	0	KAT6B	76399805	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.698000	0.84413	2.320000	0.78422	0.528000	0.53228	TCC		0.318	KAT6B-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048771.1	NM_012330		6	43	0	0	0	1	0	6	43					C	76729799	T	C	76729799	3	2	86	1	0	0	0	0	1	0	0	0	10105	1783	62	4	882	4	MYST4	10	76729799	Missense_Mutation	SNP	T	TCGA-EJ-7318-01B-11D-A32B-08	59366836	76729799	58804948	24	4448											
MUC2	4583	broad.mit.edu	37	chr11	1087944	1087944	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctatgagccatgtgggaaccGgagcttcgagacctgcagga	10	7	14	10	2	0	2	0	1	0	1	1	6	0	5	3	3	4	2	3	3	2	2	rs369454331		TCGA-EJ-7318-01B-11D-A32B-08	TCGA-EJ-7318-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b812ff8-df95-4cb8-994f-3781ffaa7283	aedb9142-7769-4ca6-b652-f7b81ce8166e	g.chr11:1087944G>A	ENST00000441003.2	+	25	3446	c.3419G>A	c.(3418-3420)cGg>cAg	p.R1140Q	MUC2_ENST00000359061.5_Missense_Mutation_p.R1140Q	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	1140					cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi lumen (GO:0005796)|inner mucus layer (GO:0070702)|outer mucus layer (GO:0070703)				NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	TGTGGGAACCGGAGCTTCGAG	0.607																																						ENST00000441003.2																			0				NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102						c.(3418-3420)cGg>cAg		mucin 2, oligomeric mucus/gel-forming	Pranlukast(DB01411)		GLN/ARG	0,4294		0,0,2147	69	75	73		3419	-4.4	0	11		73	1,8505		0,1,4252	no	missense	MUC2	NM_002457.2	43	0,1,6399	AA,AG,GG		0.0118,0.0,0.0078	possibly-damaging	1140/2813	1087944	1,12799	2147	4253	6400	SO:0001583	missense	4583					inner mucus layer|outer mucus layer	protein binding	g.chr11:1087944G>A	L21998		11p15.5	2011-01-28	2006-03-14		ENSG00000198788	ENSG00000198788		"Mucins"	7512	protein-coding gene	gene with protein product		158370	"mucin 2, intestinal/tracheal"			15081123	Standard	NM_002457		Approved		uc001lsx.1	Q02817	OTTHUMG00000156800	ENST00000441003.2:c.3419G>A	11.37:g.1087944G>A	ENSP00000415183:p.Arg1140Gln					MUC2_ENST00000359061.5_Missense_Mutation_p.R1140Q	p.R1140Q	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	25	3446	+		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)	1140					Q14878	Missense_Mutation	SNP	ENST00000441003.2	37	c.3419G>A		.	.	.	.	.	.	.	.	.	.	g	6.544	0.468573	0.12461	0.0	1.18E-4	ENSG00000198788	ENST00000441003;ENST00000359061	T;T	0.54675	0.56;0.56	3.98	-4.4	0.03600	.	0.608529	0.14186	N	0.335667	T	0.31295	0.0792	L	0.38531	1.155	0.09310	N	1	P	0.40875	0.731	B	0.31869	0.137	T	0.22765	-1.0207	10	0.29301	T	0.29	.	10.3273	0.43801	0.1435:0.5845:0.272:0.0	.	1140	E7EUV1	.	Q	1140	ENSP00000415183:R1140Q;ENSP00000351956:R1140Q	ENSP00000351956:R1140Q	R	+	2	0	MUC2	1077944	0.023000	0.18921	0.001000	0.08648	0.246000	0.25737	0.942000	0.29017	-0.622000	0.05626	0.550000	0.68814	CGG		0.607	MUC2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000345894.2	NM_002457		3	14	0	0	0	1	0	3	14					A	1087944	G	A	1087944	3	1	86	1	0	0	0	0	1	0	0	0	9975	1116	39	2	3517	2	MUC2	11	1087944	Missense_Mutation	SNP	G	TCGA-EJ-7318-01B-11D-A32B-08		1087944	133918572	25	4449											
MUC5B	727897	broad.mit.edu	37	chr11	1271277	1271277	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctccactccggggacgacCtggatcctcacagagctgac	8	7	10	16	2	1	2	1	1	0	1	5	5	5	4	5	3	1	1	5	3	0	0			TCGA-EJ-7318-01B-11D-A32B-08	TCGA-EJ-7318-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b812ff8-df95-4cb8-994f-3781ffaa7283	aedb9142-7769-4ca6-b652-f7b81ce8166e	g.chr11:1271277C>G	ENST00000529681.1	+	31	13225	c.13167C>G	c.(13165-13167)acC>acG	p.T4389T	MUC5B_ENST00000447027.1_Silent_p.T4392T|RP11-532E4.2_ENST00000532061.2_RNA	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	4389	23 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich.				cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CGGGGACGACCTGGATCCTCA	0.662																																						ENST00000447027.1																			0				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137						c.(13174-13176)acC>acG		mucin 5B, oligomeric mucus/gel-forming							77	92	87					11																	1271277		2043	4185	6228	SO:0001819	synonymous_variant	727897				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	g.chr11:1271277C>G	U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"Mucins"	7516	protein-coding gene	gene with protein product		600770	"mucin 5, subtype B, tracheobronchial"	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.13167C>G	11.37:g.1271277C>G						MUC5B_ENST00000529681.1_Silent_p.T4389T	p.T4392T			Q9HC84	MUC5B_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)	31	13234	+		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	4389			23 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich.		O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Silent	SNP	ENST00000529681.1	37	c.13176C>G	CCDS44515.2																																																																																				0.662	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093		4	102	0	0	0	1	0	4	102					G	1271277	C	G	1271277	2	3	86	1	0	0	0	0	0	0	0	1	9979	668	24	5		5	MUC5B	11	1271277	Silent	SNP	C	TCGA-EJ-7318-01B-11D-A32B-08	183333	1271277	133735239	26	4450											
OR5D18	219438	broad.mit.edu	37	chr11	55587532	55587532	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acatgtcccagaaactctgcGtgctgctggttgtgggatcc	7	11	12	11	1	1	1	0	0	1	1	3	2	3	2	2	2	4	3	2	2	1	1	rs577643505		TCGA-EJ-7318-01B-11D-A32B-08	TCGA-EJ-7318-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b812ff8-df95-4cb8-994f-3781ffaa7283	aedb9142-7769-4ca6-b652-f7b81ce8166e	g.chr11:55587532G>A	ENST00000333976.4	+	1	447	c.427G>A	c.(427-429)Gtg>Atg	p.V143M		NM_001001952.1	NP_001001952.1	Q8NGL1	OR5DI_HUMAN	olfactory receptor, family 5, subfamily D, member 18	143						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|breast(1)|endometrium(3)|large_intestine(6)|lung(33)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		all_epithelial(135;0.208)				GAAACTCTGCGTGCTGCTGGT	0.468													N|||	1	0.000199681	0	0	5008	,	,		17858	0.001		0	False		,,,				2504	0					ENST00000333976.4																			0				NS(2)|breast(1)|endometrium(3)|large_intestine(6)|lung(33)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						c.(427-429)Gtg>Atg		olfactory receptor, family 5, subfamily D, member 18							183	173	176					11																	55587532		2200	4296	6496	SO:0001583	missense	219438				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55587532G>A	AB065781	CCDS31510.1	11q11	2012-08-09			ENSG00000186119	ENSG00000186119		"GPCR / Class A : Olfactory receptors"	15285	protein-coding gene	gene with protein product							Standard	NM_001001952		Approved		uc010rin.2	Q8NGL1	OTTHUMG00000166811	ENST00000333976.4:c.427G>A	11.37:g.55587532G>A	ENSP00000335025:p.Val143Met						p.V143M	NM_001001952.1	NP_001001952.1	Q8NGL1	OR5DI_HUMAN			1	447	+		all_epithelial(135;0.208)	143					Q6IF67|Q6IFD3|Q96RB3	Missense_Mutation	SNP	ENST00000333976.4	37	c.427G>A	CCDS31510.1	.	.	.	.	.	.	.	.	.	.	.	1.265	-0.614747	0.03663	.	.	ENSG00000186119	ENST00000333976	T	0.38887	1.11	4.66	-2.41	0.06562	GPCR, rhodopsin-like superfamily (1);	1.093960	0.07162	N	0.850821	T	0.24470	0.0593	L	0.32530	0.975	0.09310	N	1	B	0.19073	0.033	B	0.13407	0.009	T	0.23261	-1.0193	10	0.30078	T	0.28	-0.4402	0.4872	0.00558	0.3445:0.1336:0.2897:0.2322	.	143	Q8NGL1	OR5DI_HUMAN	M	143	ENSP00000335025:V143M	ENSP00000335025:V143M	V	+	1	0	OR5D18	55344108	0.000000	0.05858	0.000000	0.03702	0.016000	0.09150	-5.735000	0.00101	-0.256000	0.09473	-0.289000	0.09944	GTG		0.468	OR5D18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391515.1	NM_001001952		32	124	0	0	0	1	0	32	124					A	55587532	G	A	55587532	3	1	86	1	0	0	0	0	1	0	0	0	11157	1145	40	1	429	1	OR5D18	11	55587532	Missense_Mutation	SNP	G	TCGA-EJ-7318-01B-11D-A32B-08	54316255	55587532	79418984	27	4451											
OR5M3	219482	broad.mit.edu	37	chr11	56237781	56237781	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaccacacatcaacaaatgAcaagtgactgaggaaaaagt	21	5	7	8	0	1	3	1	3	0	0	1	4	1	4	1	1	2	0	1	1	6	0			TCGA-EJ-7318-01B-11D-A32B-08	TCGA-EJ-7318-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b812ff8-df95-4cb8-994f-3781ffaa7283	aedb9142-7769-4ca6-b652-f7b81ce8166e	g.chr11:56237781A>G	ENST00000312240.2	-	1	233	c.193T>C	c.(193-195)Tca>Cca	p.S65P		NM_001004742.2	NP_001004742.2	Q8NGP4	OR5M3_HUMAN	olfactory receptor, family 5, subfamily M, member 3	65						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(15)|ovary(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	37	Esophageal squamous(21;0.00448)					TCAACAAATGACAAGTGACTG	0.393																																						ENST00000312240.2																			0				NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(15)|ovary(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	37						c.(193-195)Tca>Cca		olfactory receptor, family 5, subfamily M, member 3							117	104	108					11																	56237781		2201	4296	6497	SO:0001583	missense	219482				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56237781A>G	AB065746	CCDS31532.1	11q11	2012-08-09			ENSG00000174937	ENSG00000174937		"GPCR / Class A : Olfactory receptors"	14806	protein-coding gene	gene with protein product							Standard	NM_001004742		Approved		uc010rjk.2	Q8NGP4	OTTHUMG00000166875	ENST00000312240.2:c.193T>C	11.37:g.56237781A>G	ENSP00000312208:p.Ser65Pro						p.S65P	NM_001004742.2	NP_001004742.2	Q8NGP4	OR5M3_HUMAN			1	233	-	Esophageal squamous(21;0.00448)		65					B2RNM7|Q6IEW4|Q96RC0	Missense_Mutation	SNP	ENST00000312240.2	37	c.193T>C	CCDS31532.1	.	.	.	.	.	.	.	.	.	.	A	14.07	2.426729	0.43020	.	.	ENSG00000174937	ENST00000312240	T	0.12255	2.7	5.13	3.98	0.46160	GPCR, rhodopsin-like superfamily (1);	0.000000	0.35555	N	0.003140	T	0.49133	0.1539	H	0.96720	3.87	0.09310	N	1	D	0.89917	1.0	D	0.91635	0.999	T	0.55244	-0.8171	10	0.72032	D	0.01	-8.353	10.6393	0.45584	0.6946:0.3053:0.0:0.0	.	65	Q8NGP4	OR5M3_HUMAN	P	65	ENSP00000312208:S65P	ENSP00000312208:S65P	S	-	1	0	OR5M3	55994357	0.001000	0.12720	0.019000	0.16419	0.818000	0.46254	-0.028000	0.12350	0.769000	0.33313	0.391000	0.25812	TCA		0.393	OR5M3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391639.1	NM_001004742		4	139	0	0	0	1	0	4	139					G	56237781	A	G	56237781	3	3	86	1	0	0	0	0	1	0	0	0	11175	275	10	4	732	4	OR5M3	11	56237781	Missense_Mutation	SNP	A	TCGA-EJ-7318-01B-11D-A32B-08	650249	56237781	78768735	28	4452											
RNF214	257160	broad.mit.edu	37	chr11	117117567	117117567	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgtgacaataaagcgggaaGaaacaaagaagaagatagag	22	4	12	3	1	0	6	0	1	0	5	0	7	0	7	0	1	2	0	0	1	9	2			TCGA-EJ-7318-01B-11D-A32B-08	TCGA-EJ-7318-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b812ff8-df95-4cb8-994f-3781ffaa7283	aedb9142-7769-4ca6-b652-f7b81ce8166e	g.chr11:117117567G>T	ENST00000531452.1	+	6	908	c.862G>T	c.(862-864)Gaa>Taa	p.E288*	RNF214_ENST00000300650.4_Nonsense_Mutation_p.E288*|RNF214_ENST00000530849.1_Nonsense_Mutation_p.E133*|RNF214_ENST00000531287.1_Nonsense_Mutation_p.E133*	NM_001077239.1|NM_001278249.1	NP_001070707.1|NP_001265178.1	Q8ND24	RN214_HUMAN	ring finger protein 214	288							zinc ion binding (GO:0008270)			cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	23	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.88e-05)|Epithelial(105;0.000397)|all cancers(92;0.00258)		AAAGCGGGAAGAAACAAAGAA	0.373																																						ENST00000530849.1																			0				cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	23						c.(397-399)Gaa>Taa		ring finger protein 214							199	199	199					11																	117117567		1850	4094	5944	SO:0001587	stop_gained	257160						zinc ion binding	g.chr11:117117567G>T	AL834448	CCDS41720.1, CCDS60976.1	11q23.3	2014-02-12	2007-02-16		ENSG00000167257	ENSG00000167257		"RING-type (C3HC4) zinc fingers"	25335	protein-coding gene	gene with protein product							Standard	NM_001077239		Approved	DKFZp547C195	uc001pqt.4	Q8ND24	OTTHUMG00000167069	ENST00000531452.1:c.862G>T	11.37:g.117117567G>T	ENSP00000431643:p.Glu288*					RNF214_ENST00000300650.4_Nonsense_Mutation_p.E288*|RNF214_ENST00000531452.1_Nonsense_Mutation_p.E288*|RNF214_ENST00000531287.1_Nonsense_Mutation_p.E133*	p.E133*			Q8ND24	RN214_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.88e-05)|Epithelial(105;0.000397)|all cancers(92;0.00258)	5	407	+	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)	288					B2RUW0|B4DTD1	Nonsense_Mutation	SNP	ENST00000531452.1	37	c.397G>T	CCDS41720.1	.	.	.	.	.	.	.	.	.	.	G	29.9	5.043532	0.93685	.	.	ENSG00000167257	ENST00000531287;ENST00000531452;ENST00000530849;ENST00000300650	.	.	.	6.02	6.02	0.97574	.	0.061492	0.64402	D	0.000006	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-6.8672	19.5289	0.95219	0.0:0.0:1.0:0.0	.	.	.	.	X	133;288;133;288	.	.	E	+	1	0	RNF214	116622777	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.537000	0.73847	2.865000	0.98341	0.655000	0.94253	GAA		0.373	RNF214-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392884.1	NM_001077239		4	181	1	0	0.00024832	1	0.000267061	4	181					T	117117567	G	T	117117567	4	4	86	1	0	0	0	0	0	1	0	0	13478	943	33	5	880	5	RNF214	11	117117567	Nonsense_Mutation	SNP	G	TCGA-EJ-7318-01B-11D-A32B-08	60879786	117117567	17888949	29	4453											
ADAMTS20	80070	broad.mit.edu	37	chr12	43819391	43819391	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	acactgtattacgctaggtgGcttgtttacaatttcacagt	10	15	8	8	1	1	0	1	0	0	0	1	0	1	0	0	2	2	4	0	2	5	7			TCGA-EJ-7318-01B-11D-A32B-08	TCGA-EJ-7318-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b812ff8-df95-4cb8-994f-3781ffaa7283	aedb9142-7769-4ca6-b652-f7b81ce8166e	g.chr12:43819391G>T	ENST00000389420.3	-	28	4209	c.4210C>A	c.(4210-4212)Cca>Aca	p.P1404T	ADAMTS20_ENST00000395541.2_Missense_Mutation_p.P522T|ADAMTS20_ENST00000553158.1_Missense_Mutation_p.P1404T	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	1404	TSP type-1 10. {ECO:0000255|PROSITE- ProRule:PRU00210}.				extracellular matrix organization (GO:0030198)|negative regulation of apoptotic process (GO:0043066)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of signal transduction (GO:0009967)	extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		ACGCTAGGTGGCTTGTTTACA	0.403																																						ENST00000389420.3																			0				breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						c.(4210-4212)Cca>Aca		ADAM metallopeptidase with thrombospondin type 1 motif, 20							205	159	175					12																	43819391		2203	4300	6503	SO:0001583	missense	80070					proteinaceous extracellular matrix	zinc ion binding	g.chr12:43819391G>T	AF488804	CCDS31778.2	12q12	2005-08-19	2005-08-19			ENSG00000173157		"ADAM metallopeptidases with thrombospondin type 1 motif"	17178	protein-coding gene	gene with protein product		611681	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 20"			12514189, 12562771	Standard	NM_025003		Approved	GON-1	uc010skx.2	P59510		ENST00000389420.3:c.4210C>A	12.37:g.43819391G>T	ENSP00000374071:p.Pro1404Thr					ADAMTS20_ENST00000395541.2_Missense_Mutation_p.P522T|ADAMTS20_ENST00000553158.1_Missense_Mutation_p.P1404T	p.P1404T	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN		GBM - Glioblastoma multiforme(48;0.0473)	28	4209	-	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)	1404			TSP type-1 10.		A6NNC9|J3QT00	Missense_Mutation	SNP	ENST00000389420.3	37	c.4210C>A	CCDS31778.2	.	.	.	.	.	.	.	.	.	.	G	22.0	4.233557	0.79688	.	.	ENSG00000173157	ENST00000389420;ENST00000549670;ENST00000395541;ENST00000553158;ENST00000389417	T;T;T;T	0.63255	-0.03;-0.03;-0.03;-0.03	4.71	4.71	0.59529	.	0.127995	0.35235	N	0.003345	D	0.86957	0.6058	H	0.97732	4.065	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.91803	0.5453	10	0.87932	D	0	.	18.5834	0.91180	0.0:0.0:1.0:0.0	.	1404;522	P59510;E9PBD5	ATS20_HUMAN;.	T	1404;534;522;1404;1404	ENSP00000374071:P1404T;ENSP00000447427:P534T;ENSP00000378911:P522T;ENSP00000448341:P1404T	ENSP00000374068:P1404T	P	-	1	0	ADAMTS20	42105658	1.000000	0.71417	1.000000	0.80357	0.850000	0.48378	9.174000	0.94824	2.546000	0.85860	0.650000	0.86243	CCA		0.403	ADAMTS20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403643.1	NM_025003		6	21	1	0	0.0215528	1	0.0219376	6	21					T	43819391	G	T	43819391	3	4	86	1	0	0	0	0	1	0	0	0	266	1203	42	5	1569	5	ADAMTS20	12	43819391	Missense_Mutation	SNP	G	TCGA-EJ-7318-01B-11D-A32B-08		43819391	90032504	30	4454											
LRRC10	376132	broad.mit.edu	37	chr12	70003941	70003941	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cctttggccaccttgggtgcGttcctgcaaggattgtggtc	4	13	13	11	1	0	0	0	0	0	0	2	1	1	1	4	4	2	2	4	4	1	4	rs367700049		TCGA-EJ-7318-01B-11D-A32B-08	TCGA-EJ-7318-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b812ff8-df95-4cb8-994f-3781ffaa7283	aedb9142-7769-4ca6-b652-f7b81ce8166e	g.chr12:70003941G>A	ENST00000361484.3	-	1	1001	c.678C>T	c.(676-678)aaC>aaT	p.N226N		NM_201550.2	NP_963844.2	Q5BKY1	LRC10_HUMAN	leucine rich repeat containing 10	226					cardiac muscle cell development (GO:0055013)	cytoskeleton (GO:0005856)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|sarcomere (GO:0030017)				large_intestine(2)|lung(6)	8	all_cancers(2;2.83e-105)|Breast(13;9.83e-07)|Esophageal squamous(21;0.187)		Epithelial(6;1.98e-18)|GBM - Glioblastoma multiforme(2;7.43e-12)|Lung(24;0.000185)|OV - Ovarian serous cystadenocarcinoma(12;0.00126)|STAD - Stomach adenocarcinoma(21;0.00501)|Kidney(9;0.143)|LUSC - Lung squamous cell carcinoma(43;0.24)			CCTTGGGTGCGTTCCTGCAAG	0.582																																						ENST00000361484.3																			0				large_intestine(2)|lung(6)	8						c.(676-678)aaC>aaT		leucine rich repeat containing 10		G		0,4406		0,0,2203	87	75	79		678	-2.9	1	12		79	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	LRRC10	NM_201550.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		226/278	70003941	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	376132					nucleus		g.chr12:70003941G>A	AK095935	CCDS31856.1	12q15	2009-09-08				ENSG00000198812			20264	protein-coding gene	gene with protein product		610846				14751244	Standard	NM_201550		Approved	HRLRRP, LRRC10A	uc001svc.3	Q5BKY1		ENST00000361484.3:c.678C>T	12.37:g.70003941G>A							p.N226N	NM_201550.2	NP_963844.2	Q5BKY1	LRC10_HUMAN	Epithelial(6;1.98e-18)|GBM - Glioblastoma multiforme(2;7.43e-12)|Lung(24;0.000185)|OV - Ovarian serous cystadenocarcinoma(12;0.00126)|STAD - Stomach adenocarcinoma(21;0.00501)|Kidney(9;0.143)|LUSC - Lung squamous cell carcinoma(43;0.24)		1	1001	-	all_cancers(2;2.83e-105)|Breast(13;9.83e-07)|Esophageal squamous(21;0.187)		226					Q6ZVY4	Silent	SNP	ENST00000361484.3	37	c.678C>T	CCDS31856.1																																																																																				0.582	LRRC10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403834.1	NM_201550		7	23	0	0	0	1	0	7	23					A	70003941	G	A	70003941	2	1	86	1	0	0	0	0	0	0	0	1	8967	1136	40	1		1	LRRC10	12	70003941	Silent	SNP	G	TCGA-EJ-7318-01B-11D-A32B-08	26184550	70003941	63847954	31	4455											
SBNO1	55206	broad.mit.edu	37	chr12	123780522	123780522	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atagctgtttctgttggaccGcaagctgttgagactggtct	7	14	12	8	1	2	1	0	1	2	1	2	3	2	2	1	2	2	6	1	2	2	4			TCGA-EJ-7318-01B-11D-A32B-08	TCGA-EJ-7318-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b812ff8-df95-4cb8-994f-3781ffaa7283	aedb9142-7769-4ca6-b652-f7b81ce8166e	g.chr12:123780522G>A	ENST00000602398.1	-	32	4242	c.4115C>T	c.(4114-4116)gCg>gTg	p.A1372V	SBNO1_ENST00000602750.1_Missense_Mutation_p.A1371V|SBNO1_ENST00000267176.4_Missense_Mutation_p.A1371V|SBNO1_ENST00000420886.2_Missense_Mutation_p.A1372V			A3KN83	SBNO1_HUMAN	strawberry notch homolog 1 (Drosophila)	1372					regulation of transcription, DNA-templated (GO:0006355)			p.A1371V(2)		NS(2)|breast(6)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(11)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(2)	62	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197)		CTGTTGGACCGCAAGCTGTTG	0.433																																						ENST00000420886.2																			2	Substitution - Missense(2)	p.A1371V(2)	lung(1)|prostate(1)	NS(2)|breast(6)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(11)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(2)	62						c.(4114-4116)gCg>gTg		strawberry notch homolog 1 (Drosophila)							340	303	316					12																	123780522		2203	4300	6503	SO:0001583	missense	55206						ATP binding|DNA binding|hydrolase activity	g.chr12:123780522G>A	AK001563	CCDS9246.1, CCDS53844.1	12q24.31	2006-10-06	2006-10-06			ENSG00000139697			22973	protein-coding gene	gene with protein product		614274	"sno, strawberry notch homolog 1 (Drosophila)"				Standard	NM_018183		Approved	MOP3, FLJ10701, FLJ10833, Sno	uc010tap.2	A3KN83		ENST00000602398.1:c.4115C>T	12.37:g.123780522G>A	ENSP00000473665:p.Ala1372Val					SBNO1_ENST00000602398.1_Missense_Mutation_p.A1372V|SBNO1_ENST00000602750.1_Missense_Mutation_p.A1371V|SBNO1_ENST00000267176.4_Missense_Mutation_p.A1371V	p.A1372V	NM_001167856.1	NP_001161328.1	A3KN83	SBNO1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197)	31	4114	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		1372					Q05C06|Q3ZTS3|Q9H3T8|Q9NVB2	Missense_Mutation	SNP	ENST00000602398.1	37	c.4115C>T	CCDS53844.1	.	.	.	.	.	.	.	.	.	.	G	25.3	4.622923	0.87460	.	.	ENSG00000139697	ENST00000420886;ENST00000267176	T;T	0.32515	1.45;1.45	6.04	6.04	0.98038	.	0.000000	0.85682	D	0.000000	T	0.45236	0.1332	L	0.27053	0.805	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.73708	0.959;0.981	T	0.12785	-1.0534	10	0.33940	T	0.23	-19.465	20.5792	0.99380	0.0:0.0:1.0:0.0	.	1372;1371	A3KN83;A3KN83-2	SBNO1_HUMAN;.	V	1372;1371	ENSP00000387361:A1372V;ENSP00000267176:A1371V	ENSP00000267176:A1371V	A	-	2	0	SBNO1	122346475	1.000000	0.71417	0.790000	0.31976	0.976000	0.68499	9.431000	0.97494	2.873000	0.98535	0.561000	0.74099	GCG		0.433	SBNO1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000467684.1	NM_018183		5	275	0	0	0	1	0	5	275					A	123780522	G	A	123780522	3	1	86	1	0	0	0	0	1	0	0	0	13862	1087	38	1	70	1	SBNO1	12	123780522	Missense_Mutation	SNP	G	TCGA-EJ-7318-01B-11D-A32B-08	53776581	123780522	10071373	32	4456											
SHISA2	387914	broad.mit.edu	37	chr13	26620948	26620948	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtctgtgaccttgttgggggCgcccgggcccctgagttggc	2	10	17	12	2	1	2	0	2	1	0	1	2	1	2	4	4	0	2	4	4	0	3			TCGA-EJ-7318-01B-11D-A32B-08	TCGA-EJ-7318-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b812ff8-df95-4cb8-994f-3781ffaa7283	aedb9142-7769-4ca6-b652-f7b81ce8166e	g.chr13:26620948C>T	ENST00000319420.3	-	2	646	c.591G>A	c.(589-591)gcG>gcA	p.A197A		NM_001007538.1	NP_001007539.1	Q6UWI4	SHSA2_HUMAN	shisa family member 2	197					multicellular organismal development (GO:0007275)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(2)|skin(1)	17						TTGTTGGGGGCGCCCGGGCCC	0.612																																						ENST00000319420.3																			0				central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(2)|skin(1)	17						c.(589-591)gcG>gcA		shisa family member 2							88	94	92					13																	26620948		2203	4300	6503	SO:0001819	synonymous_variant	387914				multicellular organismal development	endoplasmic reticulum membrane|integral to membrane		g.chr13:26620948C>T		CCDS31951.1	13q12.13	2013-07-31	2013-07-31	2008-04-01	ENSG00000180730	ENSG00000180730		"Shisa homologs"	20366	protein-coding gene	gene with protein product			"chromosome 13 open reading frame 13", "transmembrane protein 46", "shisa homolog 2 (Xenopus laevis)"	C13orf13, TMEM46			Standard	NM_001007538		Approved	bA398O19.2, PRO28631, WGAR9166, hShisa	uc001uqm.1	Q6UWI4	OTTHUMG00000016612	ENST00000319420.3:c.591G>A	13.37:g.26620948C>T							p.A197A	NM_001007538.1	NP_001007539.1	Q6UWI4	SHSA2_HUMAN			2	646	-			197					B9EH70|Q5W0G8	Silent	SNP	ENST00000319420.3	37	c.591G>A	CCDS31951.1																																																																																				0.612	SHISA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044239.2	NM_001007538		7	105	0	0	0	1	0	7	105					T	26620948	C	T	26620948	2	4	86	1	0	0	0	0	0	0	0	1	14280	755	27	1		1	SHISA2	13	26620948	Silent	SNP	C	TCGA-EJ-7318-01B-11D-A32B-08		26620948	88548930	33	4457											
NUFIP1	26747	broad.mit.edu	37	chr13	45533530	45533530	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gcttaccagaatcactgtttAtcaaaacaccaagaggatct	15	10	6	10	0	3	2	2	0	1	2	3	3	3	3	2	1	2	2	2	1	6	3			TCGA-EJ-7318-01B-11D-A32B-08	TCGA-EJ-7318-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b812ff8-df95-4cb8-994f-3781ffaa7283	aedb9142-7769-4ca6-b652-f7b81ce8166e	g.chr13:45533530A>C	ENST00000379161.4	-	7	1053	c.1007T>G	c.(1006-1008)aTa>aGa	p.I336R		NM_012345.2	NP_036477.2	Q9UHK0	NUFP1_HUMAN	nuclear fragile X mental retardation protein interacting protein 1	336					box C/D snoRNP assembly (GO:0000492)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|RNA processing (GO:0006396)	cytosolic ribosome (GO:0022626)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perichromatin fibrils (GO:0005726)|pre-snoRNP complex (GO:0070761)|presynaptic active zone (GO:0048786)|transcription elongation factor complex (GO:0008023)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)|RNA binding (GO:0003723)			breast(2)|cervix(1)|endometrium(2)|large_intestine(2)|lung(4)|prostate(4)|skin(3)	18		Lung NSC(96;8.23e-05)|Breast(139;0.00378)|Prostate(109;0.0107)|all_hematologic(4;0.014)|Lung SC(185;0.0262)|Hepatocellular(98;0.0524)|Acute lymphoblastic leukemia(4;0.143)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000306)|BRCA - Breast invasive adenocarcinoma(63;0.125)		ATCACTGTTTATCAAAACACC	0.403																																						ENST00000379161.4																			0				breast(2)|cervix(1)|endometrium(2)|large_intestine(2)|lung(4)|prostate(4)|skin(3)	18						c.(1006-1008)aTa>aGa		nuclear fragile X mental retardation protein interacting protein 1							152	139	144					13																	45533530		2203	4300	6503	SO:0001583	missense	26747				box C/D snoRNP assembly|positive regulation of transcription from RNA polymerase II promoter|RNA processing	actin cytoskeleton|cytosolic ribosome|nuclear matrix|nucleolus|perichromatin fibrils|pre-snoRNP complex|presynaptic active zone|transcription elongation factor complex	DNA binding|identical protein binding|protein binding, bridging|RNA binding|zinc ion binding	g.chr13:45533530A>C	AF159548	CCDS9393.1	13q14	2008-02-05			ENSG00000083635	ENSG00000083635			8057	protein-coding gene	gene with protein product		604354				10556305, 10894927	Standard	NM_012345		Approved	NUFIP	uc001uzp.2	Q9UHK0	OTTHUMG00000016842	ENST00000379161.4:c.1007T>G	13.37:g.45533530A>C	ENSP00000368459:p.Ile336Arg						p.I336R	NM_012345.2	NP_036477.2	Q9UHK0	NUFP1_HUMAN	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000306)|BRCA - Breast invasive adenocarcinoma(63;0.125)	7	1053	-		Lung NSC(96;8.23e-05)|Breast(139;0.00378)|Prostate(109;0.0107)|all_hematologic(4;0.014)|Lung SC(185;0.0262)|Hepatocellular(98;0.0524)|Acute lymphoblastic leukemia(4;0.143)	336					Q8WVM5|Q96SG1	Missense_Mutation	SNP	ENST00000379161.4	37	c.1007T>G	CCDS9393.1	.	.	.	.	.	.	.	.	.	.	A	11.21	1.572968	0.28092	.	.	ENSG00000083635	ENST00000379161	T	0.46063	0.88	5.11	2.96	0.34315	.	0.692620	0.14055	N	0.344462	T	0.26122	0.0637	L	0.34521	1.04	0.26811	N	0.968994	B	0.29909	0.261	B	0.26517	0.07	T	0.17623	-1.0363	10	0.22109	T	0.4	-1.1823	4.6076	0.12385	0.5074:0.0:0.4926:0.0	.	336	Q9UHK0	NUFP1_HUMAN	R	336	ENSP00000368459:I336R	ENSP00000368459:I336R	I	-	2	0	NUFIP1	44431530	0.935000	0.31712	0.044000	0.18714	0.876000	0.50452	1.726000	0.38085	0.395000	0.25257	0.519000	0.50382	ATA		0.403	NUFIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044755.2	NM_012345		35	66	0	0	0	1	0	35	66					C	45533530	A	C	45533530	3	2	86	1	0	0	0	0	1	0	0	0	10748	449	16	5	496	5	NUFIP1	13	45533530	Missense_Mutation	SNP	A	TCGA-EJ-7318-01B-11D-A32B-08	18912582	45533530	69636348	34	4458											
SOCS4	122809	broad.mit.edu	37	chr14	55509920	55509920	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	agatgctgagacagtgaatgGtatagagaaaaccgaagtgt	16	8	13	4	1	0	4	0	2	0	3	0	7	0	4	1	1	2	2	1	1	6	2			TCGA-EJ-7318-01B-11D-A32B-08	TCGA-EJ-7318-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b812ff8-df95-4cb8-994f-3781ffaa7283	aedb9142-7769-4ca6-b652-f7b81ce8166e	g.chr14:55509920G>T	ENST00000395472.2	+	2	493	c.161G>T	c.(160-162)gGt>gTt	p.G54V	SOCS4_ENST00000339298.2_Missense_Mutation_p.G54V|SOCS4_ENST00000555846.1_Missense_Mutation_p.G54V	NM_080867.2|NM_199421.1	NP_543143.1|NP_955453.1	Q8WXH5	SOCS4_HUMAN	suppressor of cytokine signaling 4	54					intracellular signal transduction (GO:0035556)|negative regulation of epidermal growth factor-activated receptor activity (GO:0007175)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|protein ubiquitination (GO:0016567)|regulation of growth (GO:0040008)					central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)	14						ACAGTGAATGGTATAGAGAAA	0.413																																						ENST00000395472.2																			0				central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)	14						c.(160-162)gGt>gTt		suppressor of cytokine signaling 4							158	148	151					14																	55509920		2203	4300	6503	SO:0001583	missense	122809				intracellular signal transduction|negative regulation of signal transduction|regulation of growth			g.chr14:55509920G>T	AF424815	CCDS9722.1	14q22.1	2013-02-14	2004-02-25	2004-02-27	ENSG00000180008	ENSG00000180008		"Suppressors of cytokine signaling", "SH2 domain containing"	19392	protein-coding gene	gene with protein product			"suppressor of cytokine signaling 7"	SOCS7		12076535, 10500304	Standard	NM_080867		Approved		uc001xbp.3	Q8WXH5	OTTHUMG00000140311	ENST00000395472.2:c.161G>T	14.37:g.55509920G>T	ENSP00000378855:p.Gly54Val					SOCS4_ENST00000555846.1_Missense_Mutation_p.G54V|SOCS4_ENST00000339298.2_Missense_Mutation_p.G54V	p.G54V	NM_080867.2|NM_199421.1	NP_543143.1|NP_955453.1	Q8WXH5	SOCS4_HUMAN			2	493	+			54						Missense_Mutation	SNP	ENST00000395472.2	37	c.161G>T	CCDS9722.1	.	.	.	.	.	.	.	.	.	.	G	0.025	-1.384390	0.01194	.	.	ENSG00000180008	ENST00000395472;ENST00000555846;ENST00000339298	T;T;T	0.32753	1.44;1.44;1.44	5.22	2.46	0.29980	.	1.495460	0.04085	N	0.310331	T	0.14570	0.0352	N	0.03608	-0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.21042	-1.0257	10	0.51188	T	0.08	0.0	2.2154	0.03958	0.138:0.5115:0.1381:0.2124	.	54	Q8WXH5	SOCS4_HUMAN	V	54	ENSP00000378855:G54V;ENSP00000452522:G54V;ENSP00000341327:G54V	ENSP00000341327:G54V	G	+	2	0	SOCS4	54579673	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.085000	0.14912	0.378000	0.24764	-0.823000	0.03104	GGT		0.413	SOCS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276910.1			23	68	1	0	3.08376e-08	1	3.51549e-08	23	68					T	55509920	G	T	55509920	3	4	86	1	0	0	0	0	1	0	0	0	14916	1261	44	5	163	5	SOCS4	14	55509920	Missense_Mutation	SNP	G	TCGA-EJ-7318-01B-11D-A32B-08		55509920	51839620	35	4459											
STRC	161497	broad.mit.edu	37	chr15	43892822	43892822	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tacaagtaggtgggccagaaCctccagttgttcctcagagc	10	9	11	11	0	1	2	1	0	0	2	3	2	3	2	4	2	3	3	4	2	4	4	rs2915791		TCGA-EJ-7318-01B-11D-A32B-08	TCGA-EJ-7318-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b812ff8-df95-4cb8-994f-3781ffaa7283	aedb9142-7769-4ca6-b652-f7b81ce8166e	g.chr15:43892822C>A	ENST00000450892.2	-	26	4980	c.4903G>T	c.(4903-4905)Gtt>Ttt	p.V1635F	STRC_ENST00000541030.1_Missense_Mutation_p.V862F|RNU6-554P_ENST00000410466.1_RNA	NM_153700.2	NP_714544.1	Q7RTU9	STRC_HUMAN	stereocilin	1635					auditory receptor cell stereocilium organization (GO:0060088)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)	kinocilium (GO:0060091)|stereocilium bundle tip (GO:0032426)				skin(4)	4		all_cancers(109;3.26e-15)|all_epithelial(112;1.48e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.56e-07)		TGGGCCAGAACCTCCAGTTGT	0.542																																						ENST00000450892.2																			0				skin(4)	4						c.(4903-4905)Gtt>Ttt		stereocilin		C	PHE/VAL	1,4399	2.1+/-5.4	0,1,2199	60	62	61		4903	3.8	1	15	dbSNP_101	61	2,8592	1.2+/-3.3	0,2,4295	no	missense	STRC	NM_153700.2	50	0,3,6494	AA,AC,CC		0.0233,0.0227,0.0231	benign	1635/1776	43892822	3,12991	2200	4297	6497	SO:0001583	missense	161497				sensory perception of sound	cell surface		g.chr15:43892822C>A	BK000138	CCDS10098.1	15q15.3	2010-02-26			ENSG00000242866	ENSG00000242866			16035	protein-coding gene	gene with protein product		606440		DFNB16		11687802, 9429146	Standard	NM_153700		Approved		uc001zsf.3	Q7RTU9	OTTHUMG00000059899	ENST00000450892.2:c.4903G>T	15.37:g.43892822C>A	ENSP00000401513:p.Val1635Phe					STRC_ENST00000541030.1_Missense_Mutation_p.V862F	p.V1635F	NM_153700.2	NP_714544.1	Q7RTU9	STRC_HUMAN		GBM - Glioblastoma multiforme(94;3.56e-07)	26	4980	-		all_cancers(109;3.26e-15)|all_epithelial(112;1.48e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)	1635						Missense_Mutation	SNP	ENST00000450892.2	37	c.4903G>T	CCDS10098.1	.	.	.	.	.	.	.	.	.	.	c	12.59	1.984055	0.35036	2.27E-4	2.33E-4	ENSG00000242866	ENST00000450892;ENST00000299992;ENST00000541030	T;T	0.76839	-1.05;-1.05	4.75	3.83	0.44106	.	0.836584	0.10060	N	0.721024	T	0.81226	0.4778	.	.	.	0.35600	D	0.807751	D;P	0.58268	0.982;0.573	P;B	0.55615	0.78;0.165	T	0.78700	-0.2102	9	0.34782	T	0.22	-2.2408	9.0452	0.36343	0.0:0.8996:0.0:0.1004	rs2915791;rs2927069;rs2915791	862;1635	F5GXA4;Q7RTU9	.;STRC_HUMAN	F	1635;1635;862	ENSP00000401513:V1635F;ENSP00000440413:V862F	ENSP00000299992:V1635F	V	-	1	0	STRC	41680114	0.995000	0.38212	1.000000	0.80357	0.915000	0.54546	1.310000	0.33551	1.369000	0.46134	0.313000	0.20887	GTT		0.542	STRC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133140.1	NM_153700		4	36	1	0	0.00116845	1	0.00123336	4	36					A	43892822	C	A	43892822	3	1	86	1	0	0	0	0	1	0	0	0	15327	507	18	5	440	5	STRC	15	43892822	Missense_Mutation	SNP	C	TCGA-EJ-7318-01B-11D-A32B-08		43892822	58638570	36	4460											
CIB1	10519	broad.mit.edu	37	chr15	90774720	90774720	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tggagaagaccctgcagattCgctccttgaaggggttggcc	8	9	14	10	1	0	4	0	1	0	3	2	5	1	4	3	4	1	3	3	4	2	3			TCGA-EJ-7318-01B-11D-A32B-08	TCGA-EJ-7318-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b812ff8-df95-4cb8-994f-3781ffaa7283	aedb9142-7769-4ca6-b652-f7b81ce8166e	g.chr15:90774720C>T	ENST00000328649.6	-	4	376	c.215G>A	c.(214-216)cGa>cAa	p.R72Q	GDPGP1_ENST00000558017.1_5'Flank	NM_006384.3	NP_006375.2	Q99828	CIB1_HUMAN	calcium and integrin binding 1 (calmyrin)	72					angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|cell adhesion (GO:0007155)|cell division (GO:0051301)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to growth factor stimulus (GO:0071363)|cellular response to nerve growth factor stimulus (GO:1990090)|cellular response to tumor necrosis factor (GO:0071356)|cytoplasmic microtubule organization (GO:0031122)|double-strand break repair (GO:0006302)|endomitotic cell cycle (GO:0007113)|extrinsic apoptotic signaling pathway (GO:0097191)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of megakaryocyte differentiation (GO:0045653)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of neuron projection development (GO:0010977)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|platelet formation (GO:0030220)|positive regulation of calcineurin-NFAT signaling cascade (GO:0070886)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cell migration involved in sprouting angiogenesis (GO:0090050)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of gene expression involved in extracellular matrix organization (GO:1901313)|positive regulation of male germ cell proliferation (GO:2000256)|positive regulation of metalloenzyme activity (GO:0048554)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|regulation of cell division (GO:0051302)|regulation of cell proliferation (GO:0042127)|response to ischemia (GO:0002931)|spermatid development (GO:0007286)|thrombopoietin-mediated signaling pathway (GO:0038163)	cell periphery (GO:0071944)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|filopodium tip (GO:0032433)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	calcium ion binding (GO:0005509)|protein anchor (GO:0043495)|Ras GTPase binding (GO:0017016)			lung(1)|prostate(1)	2	Melanoma(11;0.00551)|Lung NSC(78;0.0141)|all_lung(78;0.0303)		BRCA - Breast invasive adenocarcinoma(143;0.00269)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.217)			CCTGCAGATTCGCTCCTTGAA	0.547																																						ENST00000328649.6																			0				lung(1)|prostate(1)	2						c.(214-216)cGa>cAa		calcium and integrin binding 1 (calmyrin)							103	88	93					15																	90774720		2199	4298	6497	SO:0001583	missense	10519				apoptosis|cell adhesion|double-strand break repair	apical plasma membrane|endoplasmic reticulum|filopodium|nucleoplasm	calcium ion binding|protein binding	g.chr15:90774720C>T	U82226	CCDS10360.1, CCDS73781.1	15q25.3-q26	2013-01-10			ENSG00000185043	ENSG00000185043		"EF-hand domain containing"	16920	protein-coding gene	gene with protein product		602293				9030514, 10826701	Standard	NM_006384		Approved	SIP2-28, CALMYRIN, CIB, KIP	uc031qtq.1	Q99828	OTTHUMG00000149808	ENST00000328649.6:c.215G>A	15.37:g.90774720C>T	ENSP00000333873:p.Arg72Gln						p.R72Q	NM_006384.3	NP_006375.2	Q99828	CIB1_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.00269)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.217)		4	376	-	Melanoma(11;0.00551)|Lung NSC(78;0.0141)|all_lung(78;0.0303)		72					B5BU40|H6WJF3|O00693|O00735|Q6IB49|Q96J54|Q99971	Missense_Mutation	SNP	ENST00000328649.6	37	c.215G>A	CCDS10360.1	.	.	.	.	.	.	.	.	.	.	C	28.1	4.894968	0.91962	.	.	ENSG00000185043	ENST00000328649	T	0.10382	2.88	4.63	4.63	0.57726	EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	T	0.38532	0.1044	M	0.90425	3.115	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.40887	-0.9539	10	0.72032	D	0.01	-7.1476	12.1535	0.54064	0.0:0.9141:0.0:0.0859	.	72	Q99828	CIB1_HUMAN	Q	72	ENSP00000333873:R72Q	ENSP00000333873:R72Q	R	-	2	0	CIB1	88575724	1.000000	0.71417	0.997000	0.53966	0.995000	0.86356	5.427000	0.66483	2.396000	0.81511	0.563000	0.77884	CGA		0.547	CIB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313419.1			12	22	0	0	0	1	0	12	22					T	90774720	C	T	90774720	3	4	86	1	0	0	0	0	1	0	0	0	3420	884	31	2	376	2	CIB1	15	90774720	Missense_Mutation	SNP	C	TCGA-EJ-7318-01B-11D-A32B-08	46881898	90774720	11756672	37	4461											
NOMO1	23420	broad.mit.edu	37	chr16	14989438	14989438	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cgcgctcggccaggcagcctCtgacaatagcggcccagaag	9	4	13	15	4	1	2	0	1	1	1	2	2	1	2	3	3	2	2	3	3	3	1			TCGA-EJ-7318-01B-11D-A32B-08	TCGA-EJ-7318-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b812ff8-df95-4cb8-994f-3781ffaa7283	aedb9142-7769-4ca6-b652-f7b81ce8166e	g.chr16:14989438C>T	ENST00000287667.7	+	31	3776	c.3605C>T	c.(3604-3606)tCt>tTt	p.S1202F		NM_014287.3	NP_055102.3	Q15155	NOMO1_HUMAN	NODAL modulator 1	1202						integral component of membrane (GO:0016021)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)			endometrium(6)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|skin(2)	30						CAGGCAGCCTCTGACAATAGC	0.552																																						ENST00000287667.7																			0				endometrium(6)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|skin(2)	30						c.(3604-3606)tCt>tTt		NODAL modulator 1							248	315	292					16																	14989438		2193	4298	6491	SO:0001583	missense	23420					integral to membrane	carbohydrate binding|carboxypeptidase activity|protein binding	g.chr16:14989438C>T	X57398	CCDS10556.1	16p13.11	2008-02-05			ENSG00000103512	ENSG00000103512			30060	protein-coding gene	gene with protein product		609157				1310294, 15257293	Standard	NM_014287		Approved	PM5	uc002dcv.3	Q15155	OTTHUMG00000090541	ENST00000287667.7:c.3605C>T	16.37:g.14989438C>T	ENSP00000287667:p.Ser1202Phe						p.S1202F	NM_014287.3	NP_055102.3	Q15155	NOMO1_HUMAN			31	3776	+			1202					P78421|Q8IW21|Q96DG0	Missense_Mutation	SNP	ENST00000287667.7	37	c.3605C>T	CCDS10556.1	.	.	.	.	.	.	.	.	.	.	C	15.16	2.751135	0.49257	.	.	ENSG00000103512	ENST00000287667;ENST00000456867;ENST00000536948	T	0.47177	0.85	2.99	2.99	0.34606	.	0.224065	0.39407	N	0.001374	T	0.39253	0.1071	N	0.22421	0.69	0.43114	D	0.994825	P	0.50943	0.94	P	0.48030	0.564	T	0.41502	-0.9505	10	0.59425	D	0.04	-13.786	11.8153	0.52207	0.0:1.0:0.0:0.0	.	1202	Q15155	NOMO1_HUMAN	F	1202;1202;1035	ENSP00000287667:S1202F	ENSP00000287667:S1202F	S	+	2	0	NOMO1	14896939	1.000000	0.71417	1.000000	0.80357	0.809000	0.45718	3.941000	0.56607	1.681000	0.50988	0.384000	0.25694	TCT		0.552	NOMO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207065.1			6	529	0	0	0	1	0	6	529					T	14989438	C	T	14989438	3	4	86	1	0	0	0	0	1	0	0	0	10531	913	32	3	3727	3	NOMO1	16	14989438	Missense_Mutation	SNP	C	TCGA-EJ-7318-01B-11D-A32B-08		14989438	75365315	38	4462											
ETV4	2118	broad.mit.edu	37	chr17	41611270	41611270	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	atggtggtaggggagtggcgGcttcctgctgcaggacaggg	6	8	20	7	1	0	0	0	0	0	0	1	2	1	2	1	8	2	4	1	8	1	2			TCGA-EJ-7318-01B-11D-A32B-08	TCGA-EJ-7318-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b812ff8-df95-4cb8-994f-3781ffaa7283	aedb9142-7769-4ca6-b652-f7b81ce8166e	g.chr17:41611270G>A	ENST00000319349.5	-	6	638	c.340C>T	c.(340-342)Ccg>Tcg	p.P114S	ETV4_ENST00000545089.1_Missense_Mutation_p.P114S|ETV4_ENST00000393664.2_Missense_Mutation_p.P114S|ETV4_ENST00000538265.1_Missense_Mutation_p.P75S|ETV4_ENST00000591713.1_Missense_Mutation_p.P114S|ETV4_ENST00000545954.1_Missense_Mutation_p.P75S	NM_001079675.2	NP_001073143.1	P43268	ETV4_HUMAN	ets variant 4	114					branching involved in mammary gland duct morphogenesis (GO:0060444)|cell differentiation (GO:0030154)|motor neuron axon guidance (GO:0008045)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of branching involved in mammary gland duct morphogenesis (GO:0060762)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell differentiation (GO:0048863)|transcription from RNA polymerase II promoter (GO:0006366)	nucleolus (GO:0005730)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)		EWSR1/ETV4(6)|CANT1/ETV4(3)|TMPRSS2/ETV4(13)|DDX5_ENST00000540698/ETV4(2)|KLK2/ETV4(2)	ovary(2)|upper_aerodigestive_tract(1)	3		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.0798)		GGGAGTGGCGGCTTCCTGCTG	0.652			T	"EWSR1, TMPRSS2, DDX5, KLK2, CANT1"	"Ewing sarcoma, Prostate carcinoma"																																Esophageal Squamous(116;1540 1611 12927 31103 34118)	ENST00000319349.5				Dom	yes		17	17q21	2118	T	"ets variant gene 4 (E1A enhancer binding protein, E1AF)"			"M, E"	"EWSR1, TMPRSS2, DDX5, KLK2, CANT1"		"Ewing sarcoma, Prostate carcinoma"	EWSR1/ETV4(6)|CANT1/ETV4(3)|TMPRSS2/ETV4(13)|DDX5_ENST00000540698/ETV4(2)|KLK2/ETV4(2)	0				ovary(2)|upper_aerodigestive_tract(1)	3						c.(340-342)Ccg>Tcg		ets variant 4							47	49	48					17																	41611270		2203	4300	6503	SO:0001583	missense	2118				positive regulation of transcription, DNA-dependent	nucleolus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr17:41611270G>A	U18018	CCDS11465.1, CCDS58553.1, CCDS59292.1	17q21	2014-04-30	2008-09-12			ENSG00000175832			3493	protein-coding gene	gene with protein product	"E1A enhancer binding protein"	600711	"ets variant gene 4 (E1A enhancer-binding protein, E1AF)"			8530053, 1547944	Standard	NM_001986		Approved	E1A-F, E1AF, PEA3	uc002idw.3	P43268		ENST00000319349.5:c.340C>T	17.37:g.41611270G>A	ENSP00000321835:p.Pro114Ser					ETV4_ENST00000591713.1_Missense_Mutation_p.P114S|ETV4_ENST00000545954.1_Missense_Mutation_p.P75S|ETV4_ENST00000545089.1_Missense_Mutation_p.P114S|ETV4_ENST00000538265.1_Missense_Mutation_p.P75S|ETV4_ENST00000393664.2_Missense_Mutation_p.P114S	p.P114S	NM_001079675.2	NP_001073143.1	P43268	ETV4_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.0798)	6	638	-		Breast(137;0.00908)	114					A8K314|B7Z5J3|B7Z9J6|Q96AW9	Missense_Mutation	SNP	ENST00000319349.5	37	c.340C>T	CCDS11465.1	.	.	.	.	.	.	.	.	.	.	G	14.38	2.516741	0.44763	.	.	ENSG00000175832	ENST00000319349;ENST00000393664;ENST00000538265;ENST00000545954;ENST00000545089	T;T;T;T;T	0.21191	2.02;2.02;2.02;2.02;2.02	5.66	4.69	0.59074	PEA3-type ETS-domain transcription factor, N-terminal (1);	0.367561	0.31784	N	0.007066	T	0.17450	0.0419	L	0.36672	1.1	0.34111	D	0.66293	B;B;B	0.25048	0.004;0.08;0.117	B;B;B	0.31686	0.006;0.134;0.112	T	0.13683	-1.0500	10	0.13853	T	0.58	.	12.3196	0.54977	0.0776:0.0:0.9224:0.0	.	114;75;114	B7Z5F4;B7Z5J3;P43268	.;.;ETV4_HUMAN	S	114;114;75;75;114	ENSP00000321835:P114S;ENSP00000377273:P114S;ENSP00000443846:P75S;ENSP00000440023:P75S;ENSP00000441749:P114S	ENSP00000321835:P114S	P	-	1	0	ETV4	38966796	1.000000	0.71417	0.965000	0.40720	0.990000	0.78478	7.303000	0.78871	2.642000	0.89623	0.650000	0.86243	CCG		0.652	ETV4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453489.1	NM_001986		4	22	0	0	0	1	0	4	22					A	41611270	G	A	41611270	3	1	86	1	0	0	0	0	1	0	0	0	5281	1203	42	3	1146	3	ETV4	17	41611270	Missense_Mutation	SNP	G	TCGA-EJ-7318-01B-11D-A32B-08		41611270	39583940	39	4463											
TIMM13	26517	broad.mit.edu	37	chr19	2427323	2427323	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaacacttgtccgtcatcctCtgtggagacacgcgaggctt	9	10	10	12	3	2	1	1	0	1	1	4	3	4	1	2	2	1	1	2	2	1	2			TCGA-EJ-7318-01B-11D-A32B-08	TCGA-EJ-7318-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b812ff8-df95-4cb8-994f-3781ffaa7283	aedb9142-7769-4ca6-b652-f7b81ce8166e	g.chr19:2427323C>A	ENST00000215570.3	-	2	481		c.e2-1		LMNB2_ENST00000475819.1_5'Flank|TIMM13_ENST00000591871.1_Splice_Site	NM_012458.2	NP_036590.1	Q9Y5L4	TIM13_HUMAN	translocase of inner mitochondrial membrane 13 homolog (yeast)						cellular protein metabolic process (GO:0044267)|chaperone-mediated protein transport (GO:0072321)|protein targeting to mitochondrion (GO:0006626)|sensory perception of sound (GO:0007605)	mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space protein transporter complex (GO:0042719)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)	zinc ion binding (GO:0008270)			endometrium(1)|prostate(1)	2		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCGTCATCCTCTGTGGAGACA	0.687																																						ENST00000215570.3																			0				endometrium(1)|prostate(1)	2						c.e2-1		translocase of inner mitochondrial membrane 13 homolog (yeast)							72	82	79					19																	2427323		2203	4300	6503	SO:0001630	splice_region_variant	26517				protein import into mitochondrial inner membrane|sensory perception of sound|transmembrane transport	mitochondrial inner membrane presequence translocase complex|mitochondrial intermembrane space protein transporter complex	protein binding|zinc ion binding	g.chr19:2427323C>A	AF152352	CCDS12089.1	19p13.3	2008-07-04	2001-11-28	2002-03-17		ENSG00000099800			11816	protein-coding gene	gene with protein product		607383	"translocase of inner mitochondrial membrane 13 (yeast) homolog B"	TIMM13B		10552927, 17329230	Standard	NM_012458		Approved	Tim13	uc002lvx.1	Q9Y5L4		ENST00000215570.3:c.121-1G>T	19.37:g.2427323C>A						TIMM13_ENST00000591871.1_Splice_Site		NM_012458.2	NP_036590.1	Q9Y5L4	TIM13_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	2	481	-		Hepatocellular(1079;0.137)						P62206|Q9UHL8|Q9WTL1	Splice_Site	SNP	ENST00000215570.3	37		CCDS12089.1	.	.	.	.	.	.	.	.	.	.	C	20.5	3.993091	0.74703	.	.	ENSG00000099800	ENST00000215570	.	.	.	3.38	3.38	0.38709	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.6229	0.56614	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TIMM13	2378323	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	6.731000	0.74785	1.886000	0.54624	0.436000	0.28706	.		0.687	TIMM13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451333.1		Intron	12	149	1	0	7.03913e-09	1	8.35896e-09	12	149					A	2427323	C	A	2427323	5	1	86	1	0	0	0	0	0	0	1	0	15903	927	32	5	175	5	TIMM13	19	2427323	Splice_Site	SNP	C	TCGA-EJ-7318-01B-11D-A32B-08		2427323	56701660	40	4464											
ARRDC5	645432	broad.mit.edu	37	chr19	4891081	4891081	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attctggtgatctgggttcaCgggtaacactccgtcctctg	6	13	11	11	2	4	1	1	1	3	0	6	1	6	1	2	3	1	2	2	3	1	3	rs370201794		TCGA-EJ-7318-01B-11D-A32B-08	TCGA-EJ-7318-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b812ff8-df95-4cb8-994f-3781ffaa7283	aedb9142-7769-4ca6-b652-f7b81ce8166e	g.chr19:4891081C>T	ENST00000381781.2	-	3	1005	c.1006G>A	c.(1006-1008)Gtg>Atg	p.V336M	AC027319.1_ENST00000408608.1_RNA	NM_001080523.1	NP_001073992.1	A6NEK1	ARRD5_HUMAN	arrestin domain containing 5	336										endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	12				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0257)		TCTGGGTTCACGGGTAACACT	0.507																																						ENST00000381781.2																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	12						c.(1006-1008)Gtg>Atg		arrestin domain containing 5		C	MET/VAL	0,4016		0,0,2008	73	74	74		1006	-4.3	0	19		74	1,8363		0,1,4181	no	missense	ARRDC5	NM_001080523.1	21	0,1,6189	TT,TC,CC		0.012,0.0,0.0081	benign	336/343	4891081	1,12379	2008	4182	6190	SO:0001583	missense	645432				signal transduction			g.chr19:4891081C>T		CCDS45929.1	19p13.3	2007-10-05				ENSG00000205784			31407	protein-coding gene	gene with protein product						12886014	Standard	NM_001080523		Approved		uc002mbm.3	A6NEK1		ENST00000381781.2:c.1006G>A	19.37:g.4891081C>T	ENSP00000371200:p.Val336Met						p.V336M	NM_001080523.1	NP_001073992.1	A6NEK1	ARRD5_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0257)	3	1005	-			336						Missense_Mutation	SNP	ENST00000381781.2	37	c.1006G>A	CCDS45929.1	.	.	.	.	.	.	.	.	.	.	C	4.508	0.094169	0.08632	0.0	1.2E-4	ENSG00000205784	ENST00000381781	T	0.22743	1.94	2.16	-4.32	0.03688	Immunoglobulin E-set (1);	2.623780	0.02045	N	0.049566	T	0.11452	0.0279	N	0.19112	0.55	0.09310	N	1	B	0.15473	0.013	B	0.06405	0.002	T	0.14144	-1.0483	10	0.46703	T	0.11	.	0.8271	0.01123	0.1731:0.2213:0.3432:0.2624	.	336	A6NEK1	ARRD5_HUMAN	M	336	ENSP00000371200:V336M	ENSP00000371200:V336M	V	-	1	0	ARRDC5	4842081	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.289000	0.02780	-1.262000	0.02459	-0.181000	0.13052	GTG		0.507	ARRDC5-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450443.1	XM_292803		12	51	0	0	0	1	0	12	51					T	4891081	C	T	4891081	3	4	86	1	0	0	0	0	1	0	0	0	986	536	19	1	26	1	ARRDC5	19	4891081	Missense_Mutation	SNP	C	TCGA-EJ-7318-01B-11D-A32B-08	2463758	4891081	54237902	41	4465											
COL5A3	50509	broad.mit.edu	37	chr19	10096993	10096993	+	Nonsense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggtggagagtcatttacctTctccccagctgagcctgggg	6	10	14	11	0	2	2	1	1	1	1	3	3	2	2	4	4	3	1	4	4	1	3			TCGA-EJ-7318-01B-11D-A32B-08	TCGA-EJ-7318-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b812ff8-df95-4cb8-994f-3781ffaa7283	aedb9142-7769-4ca6-b652-f7b81ce8166e	g.chr19:10096993T>A	ENST00000264828.3	-	30	2435	c.2350A>T	c.(2350-2352)Aag>Tag	p.K784*		NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	collagen, type V, alpha 3	784	Triple-helical region.				axon guidance (GO:0007411)|cell-matrix adhesion (GO:0007160)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skin development (GO:0043588)	collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)			NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116			Epithelial(33;7.11e-05)			TCATTTACCTTCTCCCCAGCT	0.632																																						ENST00000264828.3																			0				NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116						c.(2350-2352)Aag>Tag		collagen, type V, alpha 3							36	40	39					19																	10096993		2202	4299	6501	SO:0001587	stop_gained	50509				collagen fibril organization|skin development	collagen type V	collagen binding|extracellular matrix structural constituent	g.chr19:10096993T>A	AF177941	CCDS12222.1	19p13.2	2013-01-16			ENSG00000080573	ENSG00000080573		"Collagens"	14864	protein-coding gene	gene with protein product		120216				10722718	Standard	NM_015719		Approved		uc002mmq.1	P25940	OTTHUMG00000150019	ENST00000264828.3:c.2350A>T	19.37:g.10096993T>A	ENSP00000264828:p.Lys784*						p.K784*	NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	Epithelial(33;7.11e-05)		30	2435	-			784			Triple-helical region.		Q9NZQ6	Nonsense_Mutation	SNP	ENST00000264828.3	37	c.2350A>T	CCDS12222.1	.	.	.	.	.	.	.	.	.	.	T	39	7.610517	0.98387	.	.	ENSG00000080573	ENST00000264828	.	.	.	4.49	4.49	0.54785	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.0391	0.53442	0.0:0.0:0.0:1.0	.	.	.	.	X	784	.	ENSP00000264828:K784X	K	-	1	0	COL5A3	9957993	1.000000	0.71417	1.000000	0.80357	0.393000	0.30537	5.444000	0.66587	1.783000	0.52377	0.379000	0.24179	AAG		0.632	COL5A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315788.1	NM_015719		9	24	0	0	0	1	0	9	24					A	10096993	T	A	10096993	4	1	86	1	0	0	0	0	0	1	0	0	3698	1792	62	5	3039	5	COL5A3	19	10096993	Nonsense_Mutation	SNP	T	TCGA-EJ-7318-01B-11D-A32B-08	5205912	10096993	49031990	42	4466											
ICAM4	3386	broad.mit.edu	37	chr19	10398384	10398384	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcaccggcctggatctggcCaacgtgaccttgacctacga	8	9	10	14	3	2	2	1	2	1	0	2	4	2	3	5	3	2	0	5	3	2	3			TCGA-EJ-7318-01B-11D-A32B-08	TCGA-EJ-7318-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b812ff8-df95-4cb8-994f-3781ffaa7283	aedb9142-7769-4ca6-b652-f7b81ce8166e	g.chr19:10398384C>T	ENST00000380770.3	+	2	613	c.567C>T	c.(565-567)gcC>gcT	p.A189A	ICAM5_ENST00000221980.4_5'Flank|ICAM4_ENST00000393717.2_Silent_p.A189A|ICAM4_ENST00000340992.4_Nonsense_Mutation_p.Q164*|CTD-2369P2.8_ENST00000589379.1_RNA|CTD-2369P2.5_ENST00000592893.1_RNA	NM_001544.4	NP_001535.1	Q14773	ICAM4_HUMAN	intercellular adhesion molecule 4 (Landsteiner-Wiener blood group)	189	Ig-like C2-type 2.				extracellular matrix organization (GO:0030198)|regulation of immune response (GO:0050776)|single organismal cell-cell adhesion (GO:0016337)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)			breast(1)|large_intestine(3)|lung(2)|pancreas(1)	7			OV - Ovarian serous cystadenocarcinoma(20;2.64e-09)|Epithelial(33;4.31e-06)|all cancers(31;9.75e-06)			TGGATCTGGCCAACGTGACCT	0.637																																						ENST00000340992.4																			0				breast(1)|large_intestine(3)|lung(2)|pancreas(1)	7						c.(490-492)Caa>Taa		intercellular adhesion molecule 4 (Landsteiner-Wiener blood group)							78	65	70					19																	10398384		2203	4300	6503	SO:0001819	synonymous_variant	3386				cell-cell adhesion|regulation of immune response	extracellular region|integral to membrane|plasma membrane	integrin binding	g.chr19:10398384C>T	X93093	CCDS12232.1, CCDS32904.1, CCDS42500.1	19p13.2	2014-07-19	2006-02-23		ENSG00000105371	ENSG00000105371		"CD molecules", "Blood group antigens", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5347	protein-coding gene	gene with protein product		614088	"intercellular adhesion molecule 4, Landsteiner-Wiener blood group", "Landsteiner-Wiener blood group", "intercellular adhesion molecule 4 (LW blood group)"	LW		8639917, 6431896	Standard	NM_001039132		Approved	CD242	uc002mnr.2	Q14773	OTTHUMG00000180405	ENST00000380770.3:c.567C>T	19.37:g.10398384C>T						ICAM4_ENST00000380770.3_Silent_p.A189A|CTD-2369P2.8_ENST00000589379.1_RNA|ICAM4_ENST00000393717.2_Silent_p.A189A	p.Q164*	NM_001039132.2	NP_001034221.1	Q14773	ICAM4_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;2.64e-09)|Epithelial(33;4.31e-06)|all cancers(31;9.75e-06)		2	529	+			0			Ig-like C2-type 2.		A0M8X2|Q14771|Q14772|Q16375|Q9BWR0	Nonsense_Mutation	SNP	ENST00000380770.3	37	c.490C>T	CCDS12232.1	.	.	.	.	.	.	.	.	.	.	C	16.40	3.111359	0.56398	.	.	ENSG00000105371	ENST00000340992	.	.	.	4.53	2.35	0.29111	.	1.527110	0.04436	U	0.370013	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.27082	T	0.32	-2.8953	5.6825	0.17784	0.0:0.6859:0.2002:0.1139	.	.	.	.	X	164	.	ENSP00000342114:Q164X	Q	+	1	0	ICAM4	10259384	1.000000	0.71417	0.993000	0.49108	0.126000	0.20510	1.406000	0.34646	0.332000	0.23536	0.462000	0.41574	CAA		0.637	ICAM4-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000451214.1	NM_001544		4	52	0	0	0	1	0	4	52					T	10398384	C	T	10398384	2	4	86	1	0	0	0	0	0	0	0	1	7482	595	21	3		3	ICAM4	19	10398384	Silent	SNP	C	TCGA-EJ-7318-01B-11D-A32B-08	301391	10398384	48730599	43	4467											
RYR1	6261	broad.mit.edu	37	chr19	39075636	39075636	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctggcggaggcattggggaCgagatcgaggaccccgcggg	7	4	20	10	5	0	1	0	0	0	1	1	6	0	4	2	7	0	2	2	7	0	1			TCGA-EJ-7318-01B-11D-A32B-08	TCGA-EJ-7318-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b812ff8-df95-4cb8-994f-3781ffaa7283	aedb9142-7769-4ca6-b652-f7b81ce8166e	g.chr19:39075636C>T	ENST00000359596.3	+	102	14700	c.14700C>T	c.(14698-14700)gaC>gaT	p.D4900D	RYR1_ENST00000360985.3_Silent_p.D4895D|RYR1_ENST00000355481.4_Silent_p.D4895D			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	4900					calcium ion transport (GO:0006816)|cellular response to caffeine (GO:0071313)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|ossification involved in bone maturation (GO:0043931)|outflow tract morphogenesis (GO:0003151)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|skeletal muscle fiber development (GO:0048741)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|integral component of plasma membrane (GO:0005887)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|voltage-gated calcium channel activity (GO:0005245)			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	GCATTGGGGACGAGATCGAGG	0.557																																						ENST00000355481.4																			0				NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285						c.(14683-14685)gaC>gaT		ryanodine receptor 1 (skeletal)	Dantrolene(DB01219)						224	179	195					19																	39075636		2203	4300	6503	SO:0001819	synonymous_variant	6261				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr19:39075636C>T	J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"Ion channels / Ryanodine receptors"	10483	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 137"	180901	"central core disease of muscle"	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.14700C>T	19.37:g.39075636C>T						RYR1_ENST00000360985.3_Silent_p.D4895D|RYR1_ENST00000359596.3_Silent_p.D4900D	p.D4895D	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		101	14816	+	all_cancers(60;7.91e-06)		4900					Q16314|Q16368|Q9NPK1|Q9P1U4	Silent	SNP	ENST00000359596.3	37	c.14685C>T	CCDS33011.1																																																																																				0.557	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1			9	42	0	0	0	1	0	9	42					T	39075636	C	T	39075636	2	4	86	1	0	0	0	0	0	0	0	1	13768	535	19	1		1	RYR1	19	39075636	Silent	SNP	C	TCGA-EJ-7318-01B-11D-A32B-08	28677252	39075636	20053347	44	4468											
PEG3	5178	broad.mit.edu	37	chr19	57327049	57327049	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgagctgggaacagagaattCgccatccttcttaaactcac	12	10	8	11	1	2	2	1	1	1	1	4	4	3	3	2	1	3	1	2	1	4	3			TCGA-EJ-7318-01B-11D-A32B-08	TCGA-EJ-7318-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b812ff8-df95-4cb8-994f-3781ffaa7283	aedb9142-7769-4ca6-b652-f7b81ce8166e	g.chr19:57327049C>T	ENST00000326441.9	-	10	3124	c.2761G>A	c.(2761-2763)Gaa>Aaa	p.E921K	ZIM2_ENST00000391708.3_Intron|ZIM2_ENST00000599935.1_Intron|PEG3_ENST00000423103.2_Missense_Mutation_p.E921K|PEG3_ENST00000593695.1_Missense_Mutation_p.E795K|ZIM2_ENST00000601070.1_Intron|PEG3_ENST00000598410.1_Missense_Mutation_p.E797K|ZIM2_ENST00000221722.5_Intron|ZIM2_ENST00000593711.1_Intron	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	921					apoptotic process (GO:0006915)|genetic imprinting (GO:0071514)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)	p.E921K(2)		NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		ACAGAGAATTCGCCATCCTTC	0.443																																						ENST00000326441.9																			2	Substitution - Missense(2)	p.E921K(2)	skin(2)	NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170						c.(2761-2763)Gaa>Aaa		paternally expressed 3							123	120	121					19																	57327049		2203	4300	6503	SO:0001583	missense	5178				apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:57327049C>T	AB006625	CCDS12948.1, CCDS58684.1, CCDS58685.1	19q13.4	2013-01-09				ENSG00000198300		"Zinc fingers, C2H2-type", "-", "-", "-"	8826	protein-coding gene	gene with protein product		601483				9149948	Standard	NM_006210		Approved	ZKSCAN22, KIAA0287, ZNF904, ZSCAN24	uc010etr.2	Q9GZU2		ENST00000326441.9:c.2761G>A	19.37:g.57327049C>T	ENSP00000326581:p.Glu921Lys					ZIM2_ENST00000391708.3_Intron|PEG3_ENST00000593695.1_Missense_Mutation_p.E795K|ZIM2_ENST00000601070.1_Intron|PEG3_ENST00000423103.2_Missense_Mutation_p.E921K|ZIM2_ENST00000599935.1_Intron|ZIM2_ENST00000221722.5_Intron|PEG3_ENST00000598410.1_Missense_Mutation_p.E797K|ZIM2_ENST00000593711.1_Intron	p.E921K	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN		GBM - Glioblastoma multiforme(193;0.0269)	10	3124	-		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)	921					A7E2B8|B4DIM4|C9JP50|P78418|Q5H9P9|Q7Z7H7|Q8TF75|Q9GZY2	Missense_Mutation	SNP	ENST00000326441.9	37	c.2761G>A	CCDS12948.1	.	.	.	.	.	.	.	.	.	.	C	8.346	0.829793	0.16749	.	.	ENSG00000198300	ENST00000326441;ENST00000423103	T;T	0.02323	4.34;4.34	3.89	-0.09	0.13667	.	0.498279	0.17089	N	0.187473	T	0.01940	0.0061	L	0.59436	1.845	.	.	.	B;P;B	0.39809	0.052;0.689;0.152	B;B;B	0.27608	0.003;0.081;0.021	T	0.37911	-0.9685	9	0.02654	T	1	-3.0575	5.4373	0.16488	0.0:0.5418:0.1755:0.2828	.	797;921;856	A7E2B8;Q9GZU2;Q96Q96	.;PEG3_HUMAN;.	K	921	ENSP00000326581:E921K;ENSP00000403051:E921K	ENSP00000326581:E921K	E	-	1	0	ZIM2	62018861	0.001000	0.12720	0.000000	0.03702	0.952000	0.60782	1.091000	0.30915	0.048000	0.15891	0.655000	0.94253	GAA		0.443	PEG3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416099.2			6	111	0	0	0	1	0	6	111					T	57327049	C	T	57327049	3	4	86	1	0	0	0	0	1	0	0	0	11720	893	31	2	2009	2	PEG3	19	57327049	Missense_Mutation	SNP	C	TCGA-EJ-7318-01B-11D-A32B-08	18251413	57327049	1801934	45	4469											
PCDH19	57526	broad.mit.edu	37	chrX	99662943	99662943	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taaggccaacggtgcccaggCgcggcgggtcgccaccgtct	6	5	15	15	6	1	0	0	0	1	0	2	0	1	0	4	5	2	0	4	5	2	1			TCGA-EJ-7318-01B-11D-A32B-08	TCGA-EJ-7318-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b812ff8-df95-4cb8-994f-3781ffaa7283	aedb9142-7769-4ca6-b652-f7b81ce8166e	g.chrX:99662943C>T	ENST00000373034.4	-	1	2328	c.653G>A	c.(652-654)cGc>cAc	p.R218H	PCDH19_ENST00000420881.2_Missense_Mutation_p.R218H|PCDH19_ENST00000255531.7_Missense_Mutation_p.R218H	NM_001184880.1	NP_001171809.1	Q8TAB3	PCD19_HUMAN	protocadherin 19	218	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(5)|endometrium(11)|kidney(1)|large_intestine(14)|liver(1)|lung(23)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	68						GGTGCCCAGGCGCGGCGGGTC	0.607																																						ENST00000373034.4																			0				breast(5)|endometrium(11)|kidney(1)|large_intestine(14)|liver(1)|lung(23)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	68						c.(652-654)cGc>cAc		protocadherin 19							75	80	78					X																	99662943		2167	4246	6413	SO:0001583	missense	57526				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chrX:99662943C>T	AB037734	CCDS43976.1, CCDS48141.1, CCDS55462.1	Xq22.1	2014-06-28			ENSG00000165194	ENSG00000165194		"Cadherins / Protocadherins : Non-clustered"	14270	protein-coding gene	gene with protein product		300460	"epilepsy, female restricted, with mental retardation (Juberg-Hellman syndrome)"	EFMR		11549318, 18469813, 19752159	Standard	NM_020766		Approved	KIAA1313, EIEE9	uc010nmz.3	Q8TAB3	OTTHUMG00000022000	ENST00000373034.4:c.653G>A	X.37:g.99662943C>T	ENSP00000362125:p.Arg218His					PCDH19_ENST00000420881.2_Missense_Mutation_p.R218H|PCDH19_ENST00000255531.7_Missense_Mutation_p.R218H	p.R218H	NM_001184880.1	NP_001171809.1	Q8TAB3	PCD19_HUMAN			1	2328	-			218			Cadherin 2.		B0LDS4|E9PAM6|Q5JTG1|Q5JTG2|Q68DT7|Q9P2N3	Missense_Mutation	SNP	ENST00000373034.4	37	c.653G>A	CCDS55462.1	.	.	.	.	.	.	.	.	.	.	C	9.433	1.086168	0.20390	.	.	ENSG00000165194	ENST00000420881;ENST00000373034;ENST00000255531	T;T;T	0.55052	0.54;0.54;0.54	5.98	3.67	0.42095	Cadherin (4);Cadherin-like (1);	0.247414	0.47852	N	0.000208	T	0.66665	0.2812	M	0.78285	2.405	0.09310	N	0.999993	B;D;D	0.60160	0.001;0.984;0.987	B;P;D	0.63283	0.002;0.859;0.913	T	0.58126	-0.7691	10	0.49607	T	0.09	.	8.7514	0.34618	0.0:0.2182:0.0:0.7818	.	218;218;218	Q8TAB3;Q8TAB3-2;E9PAM6	PCD19_HUMAN;.;.	H	218	ENSP00000400327:R218H;ENSP00000362125:R218H;ENSP00000255531:R218H	ENSP00000255531:R218H	R	-	2	0	PCDH19	99549599	0.863000	0.29885	0.079000	0.20413	0.182000	0.23217	1.147000	0.31602	0.871000	0.35750	-0.498000	0.04607	CGC		0.607	PCDH19-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057479.2	NM_020766		24	39	0	0	0	1	0	24	39					T	99662943	C	T	99662943	3	4	86	1	0	0	0	0	1	0	0	0	11514	768	27	1	2817	1	PCDH19	23	99662943	Missense_Mutation	SNP	C	TCGA-EJ-7318-01B-11D-A32B-08		99662943	55607617	46	4470											
CLIC2	1193	broad.mit.edu	37	chrX	154507271	154507271	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acgtgtgggtaaattcttcaCgggcataggcattgtggaga	10	11	14	6	2	2	1	1	0	1	1	2	2	2	1	0	4	0	3	0	4	3	5			TCGA-EJ-7318-01B-11D-A32B-08	TCGA-EJ-7318-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b812ff8-df95-4cb8-994f-3781ffaa7283	aedb9142-7769-4ca6-b652-f7b81ce8166e	g.chrX:154507271C>T	ENST00000369449.2	-	6	883	c.665G>A	c.(664-666)cGt>cAt	p.R222H	CLIC2_ENST00000465553.1_5'UTR	NM_001289.4	NP_001280.3	O15247	CLIC2_HUMAN	chloride intracellular channel 2	222	C-terminal.|GST C-terminal.				chloride transmembrane transport (GO:1902476)|negative regulation of ryanodine-sensitive calcium-release channel activity (GO:0060315)|oxidation-reduction process (GO:0055114)|positive regulation of binding (GO:0051099)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|signal transduction (GO:0007165)|transport (GO:0006810)	chloride channel complex (GO:0034707)|cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634)	chloride channel activity (GO:0005254)|glutathione peroxidase activity (GO:0004602)|voltage-gated chloride channel activity (GO:0005247)	p.R222H(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)	18	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					AAATTCTTCACGGGCATAGGC	0.408																																					Melanoma(108;581 1592 2289 21669 28822)	ENST00000369449.2																			1	Substitution - Missense(1)	p.R222H(1)	large_intestine(1)	breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)	18						c.(664-666)cGt>cAt		chloride intracellular channel 2							119	106	110					X																	154507271		2203	4300	6503	SO:0001583	missense	1193				signal transduction	chloride channel complex|cytoplasm|nucleus	voltage-gated chloride channel activity	g.chrX:154507271C>T	AJ000217	CCDS14767.1	Xq28	2012-09-26			ENSG00000155962	ENSG00000155962		"Ion channels / Chloride channels : Intracellular"	2063	protein-coding gene	gene with protein product		300138				9339381	Standard	NM_001289		Approved	XAP121	uc004fnf.3	O15247	OTTHUMG00000022660	ENST00000369449.2:c.665G>A	X.37:g.154507271C>T	ENSP00000358460:p.Arg222His					CLIC2_ENST00000465553.1_5'UTR	p.R222H	NM_001289.4	NP_001280.3	O15247	CLIC2_HUMAN			6	883	-	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)		222			C-terminal.|GST C-terminal.		A8K9S0|O15174|Q5JT80|Q8TCE3	Missense_Mutation	SNP	ENST00000369449.2	37	c.665G>A	CCDS14767.1	.	.	.	.	.	.	.	.	.	.	c	15.93	2.977215	0.53720	.	.	ENSG00000155962	ENST00000369449	D	0.95656	-3.77	4.86	3.06	0.35304	Glutathione S-transferase, C-terminal-like (2);Glutathione S-transferase/chloride channel, C-terminal (1);	0.117284	0.56097	D	0.000026	D	0.92090	0.7493	M	0.79258	2.445	0.34860	D	0.742554	P	0.49635	0.926	B	0.34180	0.177	D	0.91251	0.5029	10	0.33940	T	0.23	-7.638	8.0184	0.30395	0.0:0.7934:0.0:0.2066	.	222	O15247	CLIC2_HUMAN	H	222	ENSP00000358460:R222H	ENSP00000358460:R222H	R	-	2	0	CLIC2	154160465	0.985000	0.35326	1.000000	0.80357	0.875000	0.50365	3.356000	0.52269	0.991000	0.38814	-0.268000	0.10319	CGT		0.408	CLIC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058793.1	NM_001289		4	72	0	0	0	1	0	4	72					T	154507271	C	T	154507271	3	4	86	1	0	0	0	0	1	0	0	0	3526	536	19	1	82	1	CLIC2	23	154507271	Missense_Mutation	SNP	C	TCGA-EJ-7318-01B-11D-A32B-08	54844328	154507271	763289	47	4471											
LDLRAD1	388633	broad.mit.edu	37	chr1	54474773	54474773	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aggttgaaggacagcgccacCacccagggccgcagggtggg	9	3	17	12	2	0	1	0	1	0	0	0	2	0	2	4	5	1	2	4	5	1	1			TCGA-EJ-7321-01A-31D-2260-08	TCGA-EJ-7321-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaf38195-2e17-457f-bb4c-a8a44fc5e877	7132d9c7-5196-48c8-a3ce-fa2f34c7be74	g.chr1:54474773C>A	ENST00000371360.1	-	6	517	c.500G>T	c.(499-501)tGg>tTg	p.W167L	LDLRAD1_ENST00000545928.1_Missense_Mutation_p.W124L|LDLRAD1_ENST00000371362.3_Missense_Mutation_p.W78L|LDLRAD1_ENST00000420619.1_Missense_Mutation_p.W128L	NM_001010978.2	NP_001010978.2	Q5T700	LRAD1_HUMAN	low density lipoprotein receptor class A domain containing 1	167	LDL-receptor class A 3; atypical. {ECO:0000255|PROSITE-ProRule:PRU00124}.					integral component of membrane (GO:0016021)				large_intestine(3)|prostate(1)|skin(3)	7						ACAGCGCCACCACCCAGGGCC	0.592																																						ENST00000371360.1																			0				large_intestine(3)|prostate(1)|skin(3)	7						c.(499-501)tGg>tTg		low density lipoprotein receptor class A domain containing 1							102	97	99					1																	54474773		2203	4300	6503	SO:0001583	missense	388633					integral to membrane	receptor activity	g.chr1:54474773C>A		CCDS30725.1, CCDS60145.1, CCDS60146.1, CCDS60147.1	1p32.3	2008-02-05	2005-10-07		ENSG00000203985	ENSG00000203985			32069	protein-coding gene	gene with protein product			"low density lipoprotein receptor A domain containing 1"				Standard	NM_001010978		Approved		uc001cwm.2	Q5T700	OTTHUMG00000008433	ENST00000371360.1:c.500G>T	1.37:g.54474773C>A	ENSP00000360411:p.Trp167Leu					LDLRAD1_ENST00000420619.1_Missense_Mutation_p.W128L|LDLRAD1_ENST00000545928.1_Missense_Mutation_p.W124L|LDLRAD1_ENST00000371362.3_Missense_Mutation_p.W78L	p.W167L	NM_001010978.2	NP_001010978.2	Q5T700	LRAD1_HUMAN			6	517	-			167			LDL-receptor class A 3; atypical.		A0PJY0|B7ZME3|Q5T6Z9	Missense_Mutation	SNP	ENST00000371360.1	37	c.500G>T	CCDS30725.1	.	.	.	.	.	.	.	.	.	.	C	18.10	3.548508	0.65311	.	.	ENSG00000203985	ENST00000371362;ENST00000371360;ENST00000545928;ENST00000420619	D;D;D;D	0.86865	-2.18;-2.18;-2.18;-2.18	4.5	4.5	0.54988	.	0.000000	0.52532	D	0.000074	D	0.91304	0.7258	M	0.67953	2.075	0.48830	D	0.999717	D;D	0.89917	0.985;1.0	P;D	0.71870	0.527;0.975	D	0.88563	0.3124	10	0.15066	T	0.55	-20.3964	16.1603	0.81700	0.0:1.0:0.0:0.0	.	124;167	B7ZME3;Q5T700	.;LRAD1_HUMAN	L	78;167;124;128	ENSP00000360413:W78L;ENSP00000360411:W167L;ENSP00000445871:W124L;ENSP00000411017:W128L	ENSP00000360411:W167L	W	-	2	0	LDLRAD1	54247361	1.000000	0.71417	1.000000	0.80357	0.598000	0.36846	5.081000	0.64444	2.348000	0.79779	0.655000	0.94253	TGG		0.592	LDLRAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023243.1	NM_001010978		3	158	1	0	0.0215528	1	0.0221275	3	158					A	54474773	C	A	54474773	3	1	87	1	0	0	0	0	1	0	0	0	8705	595	21	5	121	5	LDLRAD1	1	54474773	Missense_Mutation	SNP	C	TCGA-EJ-7321-01A-31D-2260-08		54474773	194775848	1	4472											
LEPR	3953	broad.mit.edu	37	chr1	66081866	66081866	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	caattcaattggtgcttctgTtgcaaattttaatttaacct	11	18	5	7	0	2	0	1	0	1	0	2	0	2	0	1	1	3	3	1	1	5	8	rs375934938		TCGA-EJ-7321-01A-31D-2260-08	TCGA-EJ-7321-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaf38195-2e17-457f-bb4c-a8a44fc5e877	7132d9c7-5196-48c8-a3ce-fa2f34c7be74	g.chr1:66081866T>C	ENST00000349533.6	+	15	2356	c.2171T>C	c.(2170-2172)gTt>gCt	p.V724A	LEPR_ENST00000371059.3_Missense_Mutation_p.V724A|LEPR_ENST00000344610.8_Missense_Mutation_p.V724A|LEPR_ENST00000371060.3_Missense_Mutation_p.V724A|LEPR_ENST00000371058.1_Missense_Mutation_p.V724A|LEPR_ENST00000406510.3_Intron	NM_002303.5	NP_002294.2	O15243	OBRG_HUMAN	leptin receptor	0					negative regulation of growth hormone receptor signaling pathway (GO:0060400)|negative regulation of JAK-STAT cascade (GO:0046426)|negative regulation of protein localization to cell surface (GO:2000009)	endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	receptor binding (GO:0005102)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(22)|skin(2)	36				OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)		GGTGCTTCTGTTGCAAATTTT	0.388																																						ENST00000349533.6																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(22)|skin(2)	36						c.(2170-2172)gTt>gCt		leptin receptor		T	ALA/VAL,ALA/VAL,ALA/VAL,ALA/VAL,ALA/VAL,ALA/VAL	1,4405	2.1+/-5.4	0,1,2202	139	134	136		2171,2171,2171,2171,2171,2171	-2.6	0	1		136	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense,missense,missense	LEPR	NM_001003679.3,NM_001003680.3,NM_001198687.1,NM_001198688.1,NM_001198689.1,NM_002303.5	64,64,64,64,64,64	0,2,6501	CC,CT,TT		0.0116,0.0227,0.0154	benign,benign,benign,benign,benign,benign	724/897,724/959,724/959,724/907,724/897,724/1166	66081866	2,13004	2203	4300	6503	SO:0001583	missense	3953				energy reserve metabolic process|multicellular organismal development	extracellular region|integral to membrane|plasma membrane	cytokine receptor activity	g.chr1:66081866T>C	U43168	CCDS631.1, CCDS30740.1, CCDS30741.1, CCDS55604.1	1p31	2014-09-17			ENSG00000116678	ENSG00000116678		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6554	protein-coding gene	gene with protein product		601007				8548812, 8812446	Standard	NM_001003680		Approved	OBR, CD295	uc001dci.3	P48357	OTTHUMG00000009115	ENST00000349533.6:c.2171T>C	1.37:g.66081866T>C	ENSP00000330393:p.Val724Ala					LEPR_ENST00000344610.8_Missense_Mutation_p.V724A|LEPR_ENST00000371060.3_Missense_Mutation_p.V724A|LEPR_ENST00000406510.3_Intron|LEPR_ENST00000371058.1_Missense_Mutation_p.V724A|LEPR_ENST00000371059.3_Missense_Mutation_p.V724A	p.V724A	NM_002303.5	NP_002294.2	P48357	LEPR_HUMAN		OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)	15	2356	+			724			Fibronectin type-III 3.		Q6FHL5	Missense_Mutation	SNP	ENST00000349533.6	37	c.2171T>C	CCDS631.1	.	.	.	.	.	.	.	.	.	.	T	9.243	1.038835	0.19669	2.27E-4	1.16E-4	ENSG00000116678	ENST00000344610;ENST00000349533;ENST00000371060;ENST00000371059;ENST00000371058	T;T;T;T;T	0.52526	0.66;0.66;0.66;0.66;0.66	5.5	-2.59	0.06209	Long hematopoietin receptor, Gp130 family 2, conserved site (1);Fibronectin, type III (1);	1.330700	0.04546	N	0.388924	T	0.08582	0.0213	N	0.08118	0	0.09310	N	1	B;B;B	0.24132	0.006;0.004;0.098	B;B;B	0.26969	0.005;0.003;0.075	T	0.27262	-1.0079	10	0.02654	T	1	0.7985	13.2248	0.59909	0.0:0.6007:0.0:0.3993	.	724;724;724	P48357;P48357-2;P48357-3	LEPR_HUMAN;.;.	A	724	ENSP00000340884:V724A;ENSP00000330393:V724A;ENSP00000360099:V724A;ENSP00000360098:V724A;ENSP00000360097:V724A	ENSP00000340884:V724A	V	+	2	0	LEPR	65854454	0.000000	0.05858	0.000000	0.03702	0.843000	0.47879	-0.141000	0.10327	-0.495000	0.06659	0.533000	0.62120	GTT		0.388	LEPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025275.1	NM_002303		4	56	0	0	0	1	0	4	56					C	66081866	T	C	66081866	3	2	87	1	0	0	0	0	1	0	0	0	8728	1725	60	4	2221	4	LEPR	1	66081866	Missense_Mutation	SNP	T	TCGA-EJ-7321-01A-31D-2260-08	11607093	66081866	183168755	2	4473											
LRRC8C	84230	broad.mit.edu	37	chr1	90178503	90178503	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agccctccactggtatgccaAgtatttcccttaccttgtcc	7	13	6	15	0	0	0	0	0	0	0	3	0	3	0	6	1	3	2	6	1	4	5			TCGA-EJ-7321-01A-31D-2260-08	TCGA-EJ-7321-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaf38195-2e17-457f-bb4c-a8a44fc5e877	7132d9c7-5196-48c8-a3ce-fa2f34c7be74	g.chr1:90178503A>C	ENST00000370454.4	+	3	629	c.374A>C	c.(373-375)aAg>aCg	p.K125T	LRRC8C_ENST00000479252.1_Intron|RP11-302M6.4_ENST00000370453.5_Intron	NM_032270.4	NP_115646	Q8TDW0	LRC8C_HUMAN	leucine rich repeat containing 8 family, member C	125					fat cell differentiation (GO:0045444)|ion transport (GO:0006811)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|large_intestine(5)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	28		all_lung(203;0.126)		all cancers(265;0.00756)|Epithelial(280;0.0313)		TGGTATGCCAAGTATTTCCCT	0.433																																						ENST00000370454.4																			0				breast(1)|central_nervous_system(1)|large_intestine(5)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	28						c.(373-375)aAg>aCg		leucine rich repeat containing 8 family, member C							141	135	137					1																	90178503		2203	4300	6503	SO:0001583	missense	84230					endoplasmic reticulum membrane|integral to membrane		g.chr1:90178503A>C		CCDS725.1	1p22.2	2011-02-10			ENSG00000171488	ENSG00000171488			25075	protein-coding gene	gene with protein product	"hypothetical protein AD158"	612889				11230166	Standard	NM_032270		Approved	AD158	uc001dnl.4	Q8TDW0	OTTHUMG00000010305	ENST00000370454.4:c.374A>C	1.37:g.90178503A>C	ENSP00000359483:p.Lys125Thr					RP11-302M6.4_ENST00000370453.5_Intron|LRRC8C_ENST00000479252.1_Intron	p.K125T	NM_032270.4	NP_115646.2	Q8TDW0	LRC8C_HUMAN		all cancers(265;0.00756)|Epithelial(280;0.0313)	3	629	+		all_lung(203;0.126)	125					B3KXS9|Q29RV6|Q9H075	Missense_Mutation	SNP	ENST00000370454.4	37	c.374A>C	CCDS725.1	.	.	.	.	.	.	.	.	.	.	A	25.0	4.588417	0.86851	.	.	ENSG00000171488	ENST00000370454	T	0.29397	1.57	5.84	5.84	0.93424	Leucine-rich repeat-containing protein 8, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.49525	0.1562	M	0.73962	2.25	0.58432	D	0.999999	D	0.89917	1.0	D	0.87578	0.998	T	0.55457	-0.8138	10	0.87932	D	0	.	16.2047	0.82120	1.0:0.0:0.0:0.0	.	125	Q8TDW0	LRC8C_HUMAN	T	125	ENSP00000359483:K125T	ENSP00000359483:K125T	K	+	2	0	LRRC8C	89951091	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.335000	0.96500	2.220000	0.72140	0.528000	0.53228	AAG		0.433	LRRC8C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028435.2	NM_032270		3	159	0	0	0	1	0	3	159					C	90178503	A	C	90178503	3	2	87	1	0	0	0	0	1	0	0	0	9023	72	3	5	380	5	LRRC8C	1	90178503	Missense_Mutation	SNP	A	TCGA-EJ-7321-01A-31D-2260-08	24096637	90178503	159072118	3	4474											
COL11A1	1301	broad.mit.edu	37	chr1	103444627	103444627	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggcacctaccgttggaccacGctgaccccgagggcctggtt	6	7	13	15	3	0	1	0	1	0	0	0	3	0	2	6	4	1	4	6	4	1	3			TCGA-EJ-7321-01A-31D-2260-08	TCGA-EJ-7321-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaf38195-2e17-457f-bb4c-a8a44fc5e877	7132d9c7-5196-48c8-a3ce-fa2f34c7be74	g.chr1:103444627G>A	ENST00000370096.3	-	33	2956	c.2644C>T	c.(2644-2646)Cgt>Tgt	p.R882C	COL11A1_ENST00000512756.1_Missense_Mutation_p.R766C|COL11A1_ENST00000353414.4_Missense_Mutation_p.R843C|COL11A1_ENST00000358392.2_Missense_Mutation_p.R894C	NM_001854.3	NP_001845.3	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	882	Triple-helical region.				cartilage condensation (GO:0001502)|chondrocyte development (GO:0002063)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|embryonic skeletal system morphogenesis (GO:0048704)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|proteoglycan metabolic process (GO:0006029)|sensory perception of sound (GO:0007605)|tendon development (GO:0035989)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visual perception (GO:0007601)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)	p.R894G(1)|p.R882G(1)		NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		GTTGGACCACGCTGACCCCGA	0.363																																						ENST00000358392.2																			2	Substitution - Missense(2)	p.R894G(1)|p.R882G(1)	lung(2)	NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258						c.(2680-2682)Cgt>Tgt		collagen, type XI, alpha 1							49	53	51					1																	103444627		2203	4299	6502	SO:0001583	missense	1301				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging	g.chr1:103444627G>A	J04177	CCDS778.1, CCDS780.1, CCDS780.2, CCDS53348.1	1p21	2013-01-16			ENSG00000060718	ENSG00000060718		"Collagens"	2186	protein-coding gene	gene with protein product	"collagen XI, alpha-1 polypeptide"	120280		COLL6		3182841	Standard	NM_080630		Approved	STL2, CO11A1	uc001dul.3	P12107	OTTHUMG00000010872	ENST00000370096.3:c.2644C>T	1.37:g.103444627G>A	ENSP00000359114:p.Arg882Cys					COL11A1_ENST00000370096.3_Missense_Mutation_p.R882C|COL11A1_ENST00000353414.4_Missense_Mutation_p.R843C|COL11A1_ENST00000512756.1_Missense_Mutation_p.R766C	p.R894C	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)	33	2997	-		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)	882			Triple-helical region.		B1ASK7|D3DT73|E9PCU0|Q14034|Q149N0|Q9UIT4|Q9UIT5|Q9UIT6	Missense_Mutation	SNP	ENST00000370096.3	37	c.2680C>T	CCDS778.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.267976	0.80469	.	.	ENSG00000060718	ENST00000370096;ENST00000358392;ENST00000353414;ENST00000370090;ENST00000512756	D;D;D;D	0.96168	-3.22;-3.22;-3.22;-3.93	5.25	5.25	0.73442	.	0.118031	0.56097	D	0.000023	D	0.97458	0.9168	M	0.74546	2.27	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.85130	0.982;0.996;0.997;0.99;0.992	D	0.97810	1.0250	10	0.72032	D	0.01	.	19.2059	0.93729	0.0:0.0:1.0:0.0	.	766;843;894;882;102	E9PCU0;P12107-3;P12107-2;P12107;F5H5Z5	.;.;.;COBA1_HUMAN;.	C	882;894;843;102;766	ENSP00000359114:R882C;ENSP00000351163:R894C;ENSP00000302551:R843C;ENSP00000426533:R766C	ENSP00000302551:R843C	R	-	1	0	COL11A1	103217215	1.000000	0.71417	0.997000	0.53966	0.933000	0.57130	3.495000	0.53280	2.612000	0.88384	0.655000	0.94253	CGT		0.363	COL11A1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000029997.1	NM_080630		4	49	0	0	0	1	0	4	49					A	103444627	G	A	103444627	3	1	87	1	0	0	0	0	1	0	0	0	3667	1087	38	1	2916	1	COL11A1	1	103444627	Missense_Mutation	SNP	G	TCGA-EJ-7321-01A-31D-2260-08	13266124	103444627	145805994	4	4475											
MYBPHL	343263	broad.mit.edu	37	chr1	109840068	109840068	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caccaggatgtcaatggtggCggtggcctccagcccaccca	8	6	12	15	1	1	0	1	0	0	0	2	1	2	1	5	5	1	0	5	5	1	0	rs201690316|rs34962971		TCGA-EJ-7321-01A-31D-2260-08	TCGA-EJ-7321-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaf38195-2e17-457f-bb4c-a8a44fc5e877	7132d9c7-5196-48c8-a3ce-fa2f34c7be74	g.chr1:109840068C>T	ENST00000357155.1	-	3	455	c.406G>A	c.(406-408)Gcc>Acc	p.A136T	MYBPHL_ENST00000477962.1_Intron	NM_001010985.2|NM_001265613.1	NP_001010985.2|NP_001252542.1	A2RUH7	MBPHL_HUMAN	myosin binding protein H-like	136	Ig-like C2-type 1.									central_nervous_system(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(2)	14		all_lung(203;0.00519)|all_epithelial(167;0.00575)|Lung NSC(277;0.00822)		Colorectal(144;0.0306)|Lung(183;0.0681)|COAD - Colon adenocarcinoma(174;0.117)|Epithelial(280;0.197)|all cancers(265;0.225)		TCAATGGTGGCGGTGGCCTCC	0.612																																						ENST00000357155.1																			0				central_nervous_system(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(2)	14						c.(406-408)Gcc>Acc		myosin binding protein H-like							57	53	54					1																	109840068		2203	4300	6503	SO:0001583	missense	343263							g.chr1:109840068C>T	AK129834	CCDS30793.1	1p13	2013-02-11			ENSG00000221986	ENSG00000221986		"Myosin binding proteins", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	30434	protein-coding gene	gene with protein product							Standard	NM_001010985		Approved		uc001dxk.1	A2RUH7	OTTHUMG00000012002	ENST00000357155.1:c.406G>A	1.37:g.109840068C>T	ENSP00000349678:p.Ala136Thr					MYBPHL_ENST00000477962.1_Intron	p.A136T	NM_001010985.2|NM_001265613.1	NP_001010985.2|NP_001252542.1	A2RUH7	MBPHL_HUMAN		Colorectal(144;0.0306)|Lung(183;0.0681)|COAD - Colon adenocarcinoma(174;0.117)|Epithelial(280;0.197)|all cancers(265;0.225)	3	455	-		all_lung(203;0.00519)|all_epithelial(167;0.00575)|Lung NSC(277;0.00822)	136			Ig-like C2-type 1.		B7ZME5|Q5T2Z7	Missense_Mutation	SNP	ENST00000357155.1	37	c.406G>A	CCDS30793.1	.	.	.	.	.	.	.	.	.	.	C	13.77	2.337615	0.41398	.	.	ENSG00000221986	ENST00000357155	T	0.68624	-0.34	4.6	1.72	0.24424	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.57330	0.2046	M	0.86740	2.835	0.44966	D	0.997984	B	0.30104	0.268	B	0.37346	0.247	T	0.58222	-0.7674	9	0.34782	T	0.22	.	8.0692	0.30678	0.0:0.7183:0.0:0.2817	.	136	A2RUH7	MBPHL_HUMAN	T	136	ENSP00000349678:A136T	ENSP00000349678:A136T	A	-	1	0	MYBPHL	109641591	0.996000	0.38824	0.797000	0.32132	0.212000	0.24457	3.512000	0.53407	0.687000	0.31509	-0.145000	0.13849	GCC		0.612	MYBPHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033197.1	NM_001010985		9	73	0	0	0	1	0	9	73					T	109840068	C	T	109840068	3	4	87	1	0	0	0	0	1	0	0	0	10015	768	27	1	682	1	MYBPHL	1	109840068	Missense_Mutation	SNP	C	TCGA-EJ-7321-01A-31D-2260-08	6395441	109840068	139410553	5	4476											
ALX3	257	broad.mit.edu	37	chr1	110607211	110607211	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tccttgcagtgccctcacctGtacccgggcctcagtcaggt	5	10	10	16	1	3	0	3	0	0	0	4	0	4	0	5	2	3	2	5	2	1	2			TCGA-EJ-7321-01A-31D-2260-08	TCGA-EJ-7321-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaf38195-2e17-457f-bb4c-a8a44fc5e877	7132d9c7-5196-48c8-a3ce-fa2f34c7be74	g.chr1:110607211G>A	ENST00000369792.4	-	2	679	c.592C>T	c.(592-594)Cag>Tag	p.Q198*	RP4-773N10.4_ENST00000554749.1_RNA	NM_006492.2	NP_006483.2	O95076	ALX3_HUMAN	ALX homeobox 3	198					embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic skeletal system morphogenesis (GO:0048704)|pattern specification process (GO:0007389)|regulation of apoptotic process (GO:0042981)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	6		all_cancers(81;2.35e-05)|all_epithelial(167;7.69e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.015)|all cancers(265;0.0706)|Epithelial(280;0.0758)|Colorectal(144;0.113)|LUSC - Lung squamous cell carcinoma(189;0.135)		GCCCTCACCTGTACCCGGGCC	0.612																																						ENST00000369792.4																			0				large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	6						c.(592-594)Cag>Tag		ALX homeobox 3							39	37	38					1																	110607211		2203	4300	6503	SO:0001587	stop_gained	257					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr1:110607211G>A	AF008203	CCDS819.1	1p13.3	2014-02-04	2008-11-04		ENSG00000156150	ENSG00000156150		"Homeoboxes / PRD class"	449	protein-coding gene	gene with protein product		606014	"aristaless-like homeobox 3", "frontonasal dysplasia"	FND		15226305, 11807986, 19409524	Standard	NM_006492		Approved		uc001dzb.3	O95076	OTTHUMG00000011650	ENST00000369792.4:c.592C>T	1.37:g.110607211G>A	ENSP00000358807:p.Gln198*						p.Q198*	NM_006492.2	NP_006483.2	O95076	ALX3_HUMAN		Lung(183;0.015)|all cancers(265;0.0706)|Epithelial(280;0.0758)|Colorectal(144;0.113)|LUSC - Lung squamous cell carcinoma(189;0.135)	2	679	-		all_cancers(81;2.35e-05)|all_epithelial(167;7.69e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)	198					O95075|Q5T8M4	Nonsense_Mutation	SNP	ENST00000369792.4	37	c.592C>T	CCDS819.1	.	.	.	.	.	.	.	.	.	.	G	26.7	4.761142	0.89932	.	.	ENSG00000156150	ENST00000369792	.	.	.	4.32	4.32	0.51571	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	14.6622	0.68879	0.0:0.0:1.0:0.0	.	.	.	.	X	198	.	ENSP00000358807:Q198X	Q	-	1	0	ALX3	110408734	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	9.813000	0.99286	2.112000	0.64535	0.462000	0.41574	CAG		0.612	ALX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032232.2	NM_006492		4	46	0	0	0	1	0	4	46					A	110607211	G	A	110607211	4	1	87	1	0	0	0	0	0	1	0	0	557	1386	48	3	451	3	ALX3	1	110607211	Nonsense_Mutation	SNP	G	TCGA-EJ-7321-01A-31D-2260-08	767143	110607211	138643410	6	4477											
KCNN3	3782	broad.mit.edu	37	chr1	154841766	154841766	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtctggtgggcatggttgtcCtcccgggaggagatgacgat	6	10	17	8	2	1	2	0	1	1	1	3	5	3	3	2	5	0	2	2	5	0	1			TCGA-EJ-7321-01A-31D-2260-08	TCGA-EJ-7321-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaf38195-2e17-457f-bb4c-a8a44fc5e877	7132d9c7-5196-48c8-a3ce-fa2f34c7be74	g.chr1:154841766C>T	ENST00000271915.4	-	1	990	c.675G>A	c.(673-675)gaG>gaA	p.E225E	KCNN3_ENST00000358505.2_5'Flank	NM_001204087.1|NM_002249.5	NP_001191016.1|NP_002240.3	Q9UGI6	KCNN3_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3	230					potassium ion transmembrane transport (GO:0071805)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	calmodulin binding (GO:0005516)|small conductance calcium-activated potassium channel activity (GO:0016286)			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(11)|prostate(4)|skin(1)	28	all_lung(78;2.29e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.108)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00819)		Miconazole(DB01110)|Procaine(DB00721)	CATGGTTGTCCTCCCGGGAGG	0.647																																						ENST00000271915.3																			0				cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(11)|prostate(4)|skin(1)	28						c.(673-675)gaG>gaA		potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3							76	72	73					1																	154841766		2203	4300	6503	SO:0001819	synonymous_variant	3782					integral to membrane	calmodulin binding	g.chr1:154841766C>T	AF031815	CCDS1072.1, CCDS30880.1, CCDS72928.1	1q21.3	2012-07-05			ENSG00000143603	ENSG00000143603		"Potassium channels", "Voltage-gated ion channels / Potassium channels, calcium-activated"	6292	protein-coding gene	gene with protein product		602983				9491810, 16382103	Standard	NM_002249		Approved	KCa2.3, hSK3, SKCA3	uc021pah.1	Q9UGI6	OTTHUMG00000037260	ENST00000271915.4:c.675G>A	1.37:g.154841766C>T							p.E225E	NM_002249.5	NP_002240.3	Q9UGI6	KCNN3_HUMAN	BRCA - Breast invasive adenocarcinoma(34;0.00819)		1	990	-	all_lung(78;2.29e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.108)|all_neural(408;0.245)		230					B1ANX0|O43517|Q86VF9|Q8WXG7	Silent	SNP	ENST00000271915.4	37	c.675G>A	CCDS30880.1																																																																																				0.647	KCNN3-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090688.3	NM_002249		3	56	0	0	0	1	0	3	56					T	154841766	C	T	154841766	2	4	87	1	0	0	0	0	0	0	0	1	8080	680	24	3		3	KCNN3	1	154841766	Silent	SNP	C	TCGA-EJ-7321-01A-31D-2260-08	44234555	154841766	94408855	7	4478											
LTBP1	4052	broad.mit.edu	37	chr2	33488411	33488411	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgttgaagtagctcctgaaGcttctacgtctagtgccagc	8	12	10	11	1	2	2	0	2	2	0	3	2	3	2	2	0	5	4	2	0	5	5			TCGA-EJ-7321-01A-31D-2260-08	TCGA-EJ-7321-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaf38195-2e17-457f-bb4c-a8a44fc5e877	7132d9c7-5196-48c8-a3ce-fa2f34c7be74	g.chr2:33488411G>A	ENST00000404816.2	+	15	2922	c.2569G>A	c.(2569-2571)Gct>Act	p.A857T	LTBP1_ENST00000407925.1_Missense_Mutation_p.A531T|LTBP1_ENST00000354476.3_Missense_Mutation_p.A858T|LTBP1_ENST00000404525.1_Missense_Mutation_p.A478T|LTBP1_ENST00000418533.2_Missense_Mutation_p.A531T|LTBP1_ENST00000390003.4_Missense_Mutation_p.A532T|LTBP1_ENST00000402934.1_Missense_Mutation_p.A478T			Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding protein 1	857					extracellular matrix organization (GO:0030198)|sequestering of TGFbeta in extracellular matrix (GO:0035583)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta-activated receptor activity (GO:0005024)			breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				AGCTCCTGAAGCTTCTACGTC	0.428																																						ENST00000404816.2																			0				breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108						c.(2569-2571)Gct>Act		latent transforming growth factor beta binding protein 1							145	141	142					2																	33488411		2203	4300	6503	SO:0001583	missense	4052				negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta	proteinaceous extracellular matrix	calcium ion binding|growth factor binding|transforming growth factor beta receptor activity	g.chr2:33488411G>A		CCDS33177.1, CCDS33178.1, CCDS33177.2, CCDS33178.2, CCDS54344.1, CCDS54345.1	2p22-p21	2008-05-23			ENSG00000049323	ENSG00000049323		"Latent transforming growth factor, beta binding proteins"	6714	protein-coding gene	gene with protein product	"TGF-beta1-BP-1"	150390				2350783, 11104663	Standard	NM_206943		Approved		uc021vft.1	Q14766	OTTHUMG00000152118	ENST00000404816.2:c.2569G>A	2.37:g.33488411G>A	ENSP00000386043:p.Ala857Thr					LTBP1_ENST00000404525.1_Missense_Mutation_p.A478T|LTBP1_ENST00000402934.1_Missense_Mutation_p.A478T|LTBP1_ENST00000390003.4_Missense_Mutation_p.A532T|LTBP1_ENST00000407925.1_Missense_Mutation_p.A531T|LTBP1_ENST00000354476.3_Missense_Mutation_p.A858T|LTBP1_ENST00000418533.2_Missense_Mutation_p.A531T	p.A857T			Q14766	LTBP1_HUMAN			15	2922	+	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)	857					A1L3V1|P22064|Q53SD8|Q53SF3|Q53SG1|Q59HF7|Q8TD95	Missense_Mutation	SNP	ENST00000404816.2	37	c.2569G>A	CCDS33177.2	.	.	.	.	.	.	.	.	.	.	G	15.45	2.836156	0.50951	.	.	ENSG00000049323	ENST00000404816;ENST00000354476;ENST00000390003;ENST00000418533;ENST00000402934;ENST00000404525;ENST00000407925;ENST00000413303;ENST00000468091	T;T;T;T;T;T;T;T;T	0.80393	-1.37;-1.37;-1.32;-1.27;-1.31;-1.29;-1.27;1.76;0.36	5.38	4.5	0.54988	.	.	.	.	.	T	0.66963	0.2843	N	0.22421	0.69	0.80722	D	1	P;P;B;B;B;P	0.37663	0.469;0.571;0.003;0.374;0.374;0.604	B;B;B;B;B;B	0.34038	0.07;0.174;0.004;0.108;0.108;0.147	T	0.64007	-0.6508	9	0.22109	T	0.4	.	13.9881	0.64348	0.0728:0.0:0.9272:0.0	.	857;531;478;531;532;858	Q14766;E7EV71;Q14766-3;Q14766-2;Q14766-5;Q14766-4	LTBP1_HUMAN;.;.;.;.;.	T	857;858;532;531;478;478;531;185;175	ENSP00000386043:A857T;ENSP00000346467:A858T;ENSP00000374653:A532T;ENSP00000393057:A531T;ENSP00000384373:A478T;ENSP00000385359:A478T;ENSP00000384091:A531T;ENSP00000415412:A185T;ENSP00000417591:A175T	ENSP00000346467:A858T	A	+	1	0	LTBP1	33341915	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	2.777000	0.47717	1.270000	0.44297	0.561000	0.74099	GCT		0.428	LTBP1-014	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000326227.2	NM_206943		13	89	0	0	0	1	0	13	89					A	33488411	G	A	33488411	3	1	87	1	0	0	0	0	1	0	0	0	9073	971	34	3	2682	3	LTBP1	2	33488411	Missense_Mutation	SNP	G	TCGA-EJ-7321-01A-31D-2260-08		33488411	209710962	8	4479											
ATL2	64225	broad.mit.edu	37	chr2	38546101	38546101	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgttgtttctctttcacagcCacctcgccatgtaaagcctg	7	14	7	13	1	2	0	1	0	1	0	4	0	2	0	4	0	2	3	4	0	2	4			TCGA-EJ-7321-01A-31D-2260-08	TCGA-EJ-7321-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaf38195-2e17-457f-bb4c-a8a44fc5e877	7132d9c7-5196-48c8-a3ce-fa2f34c7be74	g.chr2:38546101C>T	ENST00000378954.4	-	3	425	c.424G>A	c.(424-426)Ggc>Agc	p.G142S	ATL2_ENST00000402054.1_5'UTR|ATL2_ENST00000539122.1_5'UTR|ATL2_ENST00000546051.1_5'UTR|ATL2_ENST00000406122.1_5'UTR|ATL2_ENST00000419554.2_Missense_Mutation_p.G142S|ATL2_ENST00000452935.2_Missense_Mutation_p.G124S|ATL2_ENST00000332337.4_Missense_Mutation_p.G124S	NM_001135673.1|NM_022374.2	NP_001129145.1|NP_071769.2	Q8NHH9	ATLA2_HUMAN	atlastin GTPase 2	142	GB1/RHD3-type G.				endoplasmic reticulum organization (GO:0007029)|Golgi organization (GO:0007030)|GTP catabolic process (GO:0006184)|protein homooligomerization (GO:0051260)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	22						CTTTCACAGCCACCTCGCCAT	0.348																																						ENST00000378954.4																			0				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	22						c.(424-426)Ggc>Agc		atlastin GTPase 2							225	226	226					2																	38546101		2203	4300	6503	SO:0001583	missense	64225				endoplasmic reticulum organization|Golgi organization|protein homooligomerization	endoplasmic reticulum membrane|integral to membrane	GTP binding|GTPase activity|identical protein binding	g.chr2:38546101C>T		CCDS1795.1, CCDS46260.1	2p22.3	2008-09-17	2008-09-17	2008-09-17	ENSG00000119787	ENSG00000119787			24047	protein-coding gene	gene with protein product		609368	"ADP-ribosylation factor-like 6 interacting protein 2"	ARL6IP2		10508919, 18270207	Standard	NM_022374		Approved		uc002rqq.3	Q8NHH9	OTTHUMG00000102074	ENST00000378954.4:c.424G>A	2.37:g.38546101C>T	ENSP00000368237:p.Gly142Ser					ATL2_ENST00000332337.4_Missense_Mutation_p.G124S|ATL2_ENST00000546051.1_5'UTR|ATL2_ENST00000539122.1_5'UTR|ATL2_ENST00000452935.2_Missense_Mutation_p.G124S|ATL2_ENST00000406122.1_5'UTR|ATL2_ENST00000402054.1_5'UTR|ATL2_ENST00000419554.2_Missense_Mutation_p.G142S	p.G142S	NM_001135673.1|NM_022374.2	NP_001129145.1|NP_071769.2	Q8NHH9	ATLA2_HUMAN			3	425	-			142					B7Z1X2|B7Z7X8|Q4ZG30|Q7Z630|Q8NHH8|Q9H5M7	Missense_Mutation	SNP	ENST00000378954.4	37	c.424G>A	CCDS46260.1	.	.	.	.	.	.	.	.	.	.	C	36	5.656713	0.96724	.	.	ENSG00000119787	ENST00000378954;ENST00000332337;ENST00000419554;ENST00000452935;ENST00000451483	T;T;T;T;T	0.75938	-0.98;-0.98;-0.98;-0.98;-0.98	5.54	5.54	0.83059	Guanylate-binding protein, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.88644	0.6492	M	0.89414	3.03	0.80722	D	1	D;D;D;D	0.76494	0.998;0.997;0.994;0.999	D;D;D;D	0.80764	0.97;0.931;0.992;0.994	D	0.89933	0.4067	10	0.59425	D	0.04	-15.0307	18.4693	0.90767	0.0:1.0:0.0:0.0	.	124;124;142;142	B7Z7X8;Q8NHH9-4;Q8NHH9-2;Q8NHH9	.;.;.;ATLA2_HUMAN	S	142;124;142;124;179	ENSP00000368237:G142S;ENSP00000333393:G124S;ENSP00000415336:G142S;ENSP00000390743:G124S;ENSP00000404921:G179S	ENSP00000333393:G124S	G	-	1	0	ATL2	38399605	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	7.707000	0.84623	2.580000	0.87095	0.563000	0.77884	GGC		0.348	ATL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219886.2	NM_022374		24	240	0	0	0	1	0	24	240					T	38546101	C	T	38546101	3	4	87	1	0	0	0	0	1	0	0	0	1107	594	21	3	1483	3	ATL2	2	38546101	Missense_Mutation	SNP	C	TCGA-EJ-7321-01A-31D-2260-08	5057690	38546101	204653272	9	4480											
ASTL	431705	broad.mit.edu	37	chr2	96795627	96795627	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgaggacccgggtgatgtcCgaggcactcaggttccatcg	7	9	14	11	3	1	2	1	2	0	0	4	4	3	3	3	4	0	2	3	4	0	2			TCGA-EJ-7321-01A-31D-2260-08	TCGA-EJ-7321-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaf38195-2e17-457f-bb4c-a8a44fc5e877	7132d9c7-5196-48c8-a3ce-fa2f34c7be74	g.chr2:96795627C>T	ENST00000342380.2	-	8	809	c.810G>A	c.(808-810)tcG>tcA	p.S270S		NM_001002036.3	NP_001002036.3			astacin-like metallo-endopeptidase (M12 family)											endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|prostate(1)|skin(2)	30						GGGTGATGTCCGAGGCACTCA	0.647																																						ENST00000342380.2																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|prostate(1)|skin(2)	30						c.(808-810)tcG>tcA		astacin-like metallo-endopeptidase (M12 family)							45	52	50					2																	96795627		2203	4300	6503	SO:0001819	synonymous_variant	431705				proteolysis		metalloendopeptidase activity|zinc ion binding	g.chr2:96795627C>T	AJ537600	CCDS33249.1	2q11.1	2014-07-23	2006-10-10		ENSG00000188886	ENSG00000188886	3.4.24.21		31704	protein-coding gene	gene with protein product	"sperm acrosomal SLLP1 binding"	608860	"astacin-like metalloendopeptidase (M12 family)"			15087446	Standard	NM_001002036		Approved	ovastacin, SAS1B	uc010yui.2	Q6HA08	OTTHUMG00000155212	ENST00000342380.2:c.810G>A	2.37:g.96795627C>T							p.S270S	NM_001002036.3	NP_001002036.3	Q6HA08	ASTL_HUMAN			8	809	-			270						Silent	SNP	ENST00000342380.2	37	c.810G>A	CCDS33249.1																																																																																				0.647	ASTL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338801.1			4	68	0	0	0	1	0	4	68					T	96795627	C	T	96795627	2	4	87	1	0	0	0	0	0	0	0	1	1063	639	23	2		2	ASTL	2	96795627	Silent	SNP	C	TCGA-EJ-7321-01A-31D-2260-08	58249526	96795627	146403746	10	4481											
IMP4	92856	broad.mit.edu	37	chr2	131102232	131102232	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gattcccactgagttacgccGagaggctctggccttacagg	8	9	12	12	2	1	2	0	1	1	1	2	4	2	2	3	3	2	2	3	3	2	3	rs34815785	byFrequency	TCGA-EJ-7321-01A-31D-2260-08	TCGA-EJ-7321-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaf38195-2e17-457f-bb4c-a8a44fc5e877	7132d9c7-5196-48c8-a3ce-fa2f34c7be74	g.chr2:131102232G>A	ENST00000259239.3	+	3	851	c.143G>A	c.(142-144)cGa>cAa	p.R48Q	CCDC115_ENST00000437688.2_5'Flank|CCDC115_ENST00000259229.2_5'Flank|CCDC115_ENST00000409127.1_5'Flank|IMP4_ENST00000409935.1_Missense_Mutation_p.R48Q	NM_033416.1	NP_219484.1	Q96G21	IMP4_HUMAN	IMP4, U3 small nucleolar ribonucleoprotein	48	Arg-rich.				rRNA processing (GO:0006364)	nucleolus (GO:0005730)|ribonucleoprotein complex (GO:0030529)				central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|skin(1)|urinary_tract(1)	18	Colorectal(110;0.1)					GAGTTACGCCGAGAGGCTCTG	0.552																																						ENST00000259239.3																			0				central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|skin(1)|urinary_tract(1)	18						c.(142-144)cGa>cAa		IMP4, U3 small nucleolar ribonucleoprotein, homolog (yeast)		G	GLN/ARG	2,4404	4.2+/-10.8	0,2,2201	117	109	112		143	3	1	2	dbSNP_126	112	1,8599	1.2+/-3.3	0,1,4299	yes	missense	IMP4	NM_033416.1	43	0,3,6500	AA,AG,GG		0.0116,0.0454,0.0231	possibly-damaging	48/292	131102232	3,13003	2203	4300	6503	SO:0001583	missense	92856				rRNA processing|translation	nucleolus|ribonucleoprotein complex	aminoacyl-tRNA ligase activity|ATP binding|protein binding	g.chr2:131102232G>A	BC010042	CCDS2160.1	2q21.1	2014-02-19	2014-02-19		ENSG00000136718	ENSG00000136718			30856	protein-coding gene	gene with protein product		612981	"IMP4, U3 small nucleolar ribonucleoprotein, homolog (yeast)"			8619474, 9110174, 12655004	Standard	NM_033416		Approved	MGC19606, BXDC4	uc002tra.1	Q96G21	OTTHUMG00000131627	ENST00000259239.3:c.143G>A	2.37:g.131102232G>A	ENSP00000259239:p.Arg48Gln					IMP4_ENST00000409935.1_Missense_Mutation_p.R48Q	p.R48Q	NM_033416.1	NP_219484.1	Q96G21	IMP4_HUMAN			3	851	+	Colorectal(110;0.1)		48			Arg-rich.		Q3ZTT3	Missense_Mutation	SNP	ENST00000259239.3	37	c.143G>A	CCDS2160.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	10.48|10.48	1.361232|1.361232	0.24684|0.24684	4.54E-4|4.54E-4	1.16E-4|1.16E-4	ENSG00000136718|ENSG00000136718	ENST00000452955|ENST00000259239;ENST00000409935	.|T;T	.|0.42900	.|0.96;0.96	4.77|4.77	2.98|2.98	0.34508|0.34508	.|.	.|0.156525	.|0.56097	.|D	.|0.000039	T|T	0.36663|0.36663	0.0975|0.0975	M|M	0.70595|0.70595	2.14|2.14	0.33155|0.33155	D|D	0.546267|0.546267	.|B	.|0.30526	.|0.283	.|B	.|0.17433	.|0.018	T|T	0.47736|0.47736	-0.9094|-0.9094	5|10	.|0.38643	.|T	.|0.18	-17.4283|-17.4283	9.0457|9.0457	0.36345|0.36345	0.1802:0.0:0.8198:0.0|0.1802:0.0:0.8198:0.0	rs34815785|rs34815785	.|48	.|Q96G21	.|IMP4_HUMAN	K|Q	37|48	.|ENSP00000259239:R48Q;ENSP00000386411:R48Q	.|ENSP00000259239:R48Q	E|R	+|+	1|2	0|0	IMP4|IMP4	130818702|130818702	0.783000|0.783000	0.28701|0.28701	0.999000|0.999000	0.59377|0.59377	0.064000|0.064000	0.16182|0.16182	1.095000|1.095000	0.30964|0.30964	0.741000|0.741000	0.32674|0.32674	-0.136000|-0.136000	0.14681|0.14681	GAG|CGA		0.552	IMP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254520.2	NM_033416		5	82	0	0	0	1	0	5	82					A	131102232	G	A	131102232	3	1	87	1	0	0	0	0	1	0	0	0	7720	1058	37	2	153	2	IMP4	2	131102232	Missense_Mutation	SNP	G	TCGA-EJ-7321-01A-31D-2260-08	34306605	131102232	112097141	11	4482											
XIRP2	129446	broad.mit.edu	37	chr2	168105325	168105325	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgatgaccagcagtgaacacAcggagacaaagcagaacgtt	16	5	11	9	2	0	5	0	3	0	2	0	6	0	5	1	1	4	3	1	1	3	1			TCGA-EJ-7321-01A-31D-2260-08	TCGA-EJ-7321-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaf38195-2e17-457f-bb4c-a8a44fc5e877	7132d9c7-5196-48c8-a3ce-fa2f34c7be74	g.chr2:168105325A>T	ENST00000409195.1	+	9	7512	c.7423A>T	c.(7423-7425)Acg>Tcg	p.T2475S	XIRP2_ENST00000295237.9_Missense_Mutation_p.T2475S|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.T2253S|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409043.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	2300					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						CAGTGAACACACGGAGACAAA	0.403																																						ENST00000409195.1																			0				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						c.(7423-7425)Acg>Tcg		xin actin-binding repeat containing 2							80	78	79					2																	168105325		1922	4138	6060	SO:0001583	missense	129446				actin cytoskeleton organization	cell junction	actin binding	g.chr2:168105325A>T	AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"myomaxin"	609778	"cardiomyopathy associated 3"	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409195.1:c.7423A>T	2.37:g.168105325A>T	ENSP00000386840:p.Thr2475Ser					XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.T2253S|XIRP2_ENST00000295237.9_Missense_Mutation_p.T2475S|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000420519.1_Intron	p.T2475S	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN			9	7512	+			2300					A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Missense_Mutation	SNP	ENST00000409195.1	37	c.7423A>T	CCDS42769.1	.	.	.	.	.	.	.	.	.	.	A	4.961	0.178450	0.09443	.	.	ENSG00000163092	ENST00000409195;ENST00000295237;ENST00000409273	T;T;T	0.02446	4.29;4.29;4.29	5.74	1.78	0.24846	.	0.864475	0.10373	N	0.682606	T	0.03053	0.0090	L	0.56769	1.78	0.09310	N	1	B;B;B	0.14438	0.006;0.01;0.01	B;B;B	0.18561	0.01;0.022;0.022	T	0.51156	-0.8741	10	0.05833	T	0.94	0.2262	5.262	0.15578	0.5586:0.2871:0.1543:0.0	.	2300;2300;2253	A4UGR9;A4UGR9-3;A4UGR9-2	XIRP2_HUMAN;.;.	S	2475;2475;2253	ENSP00000386840:T2475S;ENSP00000295237:T2475S;ENSP00000387255:T2253S	ENSP00000295237:T2475S	T	+	1	0	XIRP2	167813571	0.000000	0.05858	0.013000	0.15412	0.369000	0.29798	0.639000	0.24690	0.419000	0.25927	0.523000	0.50628	ACG		0.403	XIRP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333547.1	NM_152381		5	47	0	0	0	1	0	5	47					T	168105325	A	T	168105325	3	4	87	1	0	0	0	0	1	0	0	0	17427	159	6	5	7453	5	XIRP2	2	168105325	Missense_Mutation	SNP	A	TCGA-EJ-7321-01A-31D-2260-08	37003093	168105325	75094048	12	4483											
FBXL2	25827	broad.mit.edu	37	chr3	33414823	33414823	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gacctcctgtgtgtctattaCaaacagctccttgaagggga	10	11	10	10	0	1	1	0	1	1	0	3	3	3	2	3	2	3	1	3	2	4	3			TCGA-EJ-7321-01A-31D-2260-08	TCGA-EJ-7321-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaf38195-2e17-457f-bb4c-a8a44fc5e877	7132d9c7-5196-48c8-a3ce-fa2f34c7be74	g.chr3:33414823C>A	ENST00000484457.1	+	7	522	c.431C>A	c.(430-432)aCa>aAa	p.T144K	FBXL2_ENST00000283627.6_3'UTR|FBXL2_ENST00000542085.1_5'UTR|FBXL2_ENST00000446237.3_5'UTR|FBXL2_ENST00000538181.1_Missense_Mutation_p.T60K|FBXL2_ENST00000538892.1_Intron|FBXL2_ENST00000507198.1_Intron	NM_012157.3	NP_036289.3			F-box and leucine-rich repeat protein 2											endometrium(2)|kidney(1)|large_intestine(7)|lung(3)|prostate(1)|urinary_tract(1)	15						GTGTCTATTACAAACAGCTCC	0.428																																						ENST00000484457.1																			0				endometrium(2)|kidney(1)|large_intestine(7)|lung(3)|prostate(1)|urinary_tract(1)	15						c.(430-432)aCa>aAa		F-box and leucine-rich repeat protein 2							174	176	176					3																	33414823		2203	4300	6503	SO:0001583	missense	25827				interspecies interaction between organisms|proteolysis	cytoplasm|membrane	protein binding|ubiquitin-protein ligase activity	g.chr3:33414823C>A	AF174589	CCDS2658.1, CCDS54560.1	3p22.3	2011-06-09			ENSG00000153558	ENSG00000153558		"F-boxes / Leucine-rich repeats"	13598	protein-coding gene	gene with protein product		605652				10508920, 10531035	Standard	NM_012157		Approved	FBL2, FBL3	uc003cfp.3	Q9UKC9	OTTHUMG00000130745	ENST00000484457.1:c.431C>A	3.37:g.33414823C>A	ENSP00000417601:p.Thr144Lys					FBXL2_ENST00000538181.1_Missense_Mutation_p.T60K|FBXL2_ENST00000507198.1_Intron|FBXL2_ENST00000446237.3_5'UTR|FBXL2_ENST00000283627.6_3'UTR|FBXL2_ENST00000542085.1_5'UTR|FBXL2_ENST00000538892.1_Intron	p.T144K	NM_012157.3	NP_036289.3	Q9UKC9	FBXL2_HUMAN			7	522	+			144						Missense_Mutation	SNP	ENST00000484457.1	37	c.431C>A	CCDS2658.1	.	.	.	.	.	.	.	.	.	.	C	29.1	4.975025	0.92919	.	.	ENSG00000153558	ENST00000484457;ENST00000538181	T;T	0.29655	1.56;1.56	5.18	5.18	0.71444	.	0.147402	0.64402	D	0.000013	T	0.64583	0.2611	M	0.90922	3.16	0.80722	D	1	D;D;P	0.60575	0.988;0.98;0.955	D;P;P	0.65323	0.934;0.833;0.707	T	0.72811	-0.4180	10	0.87932	D	0	.	19.649	0.95793	0.0:1.0:0.0:0.0	.	60;39;144	B4E1B8;B4DMM3;Q9UKC9	.;.;FBXL2_HUMAN	K	144;60	ENSP00000417601:T144K;ENSP00000440794:T60K	ENSP00000417601:T144K	T	+	2	0	FBXL2	33389827	1.000000	0.71417	0.937000	0.37676	0.994000	0.84299	4.934000	0.63491	2.816000	0.96949	0.644000	0.83932	ACA		0.428	FBXL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253245.2	NM_012157		17	243	1	0	5.35267e-07	1	6.24478e-07	17	243					A	33414823	C	A	33414823	3	1	87	1	0	0	0	0	1	0	0	0	5716	478	17	5	457	5	FBXL2	3	33414823	Missense_Mutation	SNP	C	TCGA-EJ-7321-01A-31D-2260-08		33414823	164607607	13	4484											
TGM4	7047	broad.mit.edu	37	chr3	44943340	44943340	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acaggcttcgattcagctcaCgacacagaaaggaacctcac	14	6	8	13	2	3	1	3	0	0	1	4	4	3	2	1	2	2	2	1	2	2	2			TCGA-EJ-7321-01A-31D-2260-08	TCGA-EJ-7321-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaf38195-2e17-457f-bb4c-a8a44fc5e877	7132d9c7-5196-48c8-a3ce-fa2f34c7be74	g.chr3:44943340C>T	ENST00000296125.4	+	8	956	c.888C>T	c.(886-888)caC>caT	p.H296H	RP11-272D20.2_ENST00000427258.1_RNA	NM_003241.3	NP_003232.2	P49221	TGM4_HUMAN	transglutaminase 4	296					mating plug formation (GO:0042628)|peptide cross-linking (GO:0018149)	cytoplasm (GO:0005737)|extracellular matrix (GO:0031012)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)	metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)			NS(1)|breast(1)|endometrium(2)|large_intestine(9)|lung(21)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	38				BRCA - Breast invasive adenocarcinoma(193;0.00963)|KIRC - Kidney renal clear cell carcinoma(197;0.0546)|Kidney(197;0.0686)	L-Glutamine(DB00130)	ATTCAGCTCACGACACAGAAA	0.552																																						ENST00000296125.4																			0				NS(1)|breast(1)|endometrium(2)|large_intestine(9)|lung(21)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	38						c.(886-888)caC>caT		transglutaminase 4	L-Glutamine(DB00130)						128	114	119					3																	44943340		2203	4300	6503	SO:0001819	synonymous_variant	7047				peptide cross-linking|protein polyamination		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity	g.chr3:44943340C>T	BC007003	CCDS2723.1	3p22-p21.33	2013-05-02	2013-05-02		ENSG00000163810	ENSG00000163810	2.3.2.13	"Transglutaminases"	11780	protein-coding gene	gene with protein product		600585	"transglutaminase 4 (prostate)"			7665178, 7916568	Standard	NM_003241		Approved	TGP	uc003coc.4	P49221	OTTHUMG00000133096	ENST00000296125.4:c.888C>T	3.37:g.44943340C>T							p.H296H	NM_003241.3	NP_003232.2	P49221	TGM4_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00963)|KIRC - Kidney renal clear cell carcinoma(197;0.0546)|Kidney(197;0.0686)	8	956	+			296					Q16707|Q96QN4	Silent	SNP	ENST00000296125.4	37	c.888C>T	CCDS2723.1																																																																																				0.552	TGM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256755.2	NM_003241		9	37	0	0	0	1	0	9	37					T	44943340	C	T	44943340	2	4	87	1	0	0	0	0	0	0	0	1	15829	535	19	1		1	TGM4	3	44943340	Silent	SNP	C	TCGA-EJ-7321-01A-31D-2260-08	11528517	44943340	153079090	14	4485											
SEMA3G	56920	broad.mit.edu	37	chr3	52472026	52472026	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcactgcagggcagggttgcCgtgccggatgtcctgccggc	4	7	17	13	3	0	0	0	0	0	0	1	1	1	1	4	4	4	4	4	4	0	1			TCGA-EJ-7321-01A-31D-2260-08	TCGA-EJ-7321-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaf38195-2e17-457f-bb4c-a8a44fc5e877	7132d9c7-5196-48c8-a3ce-fa2f34c7be74	g.chr3:52472026C>A	ENST00000231721.2	-	14	1698	c.1699G>T	c.(1699-1701)Ggc>Tgc	p.G567C		NM_020163.1	NP_064548.1	Q9NS98	SEM3G_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3G	567					multicellular organismal development (GO:0007275)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	receptor activity (GO:0004872)			kidney(1)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)	18				BRCA - Breast invasive adenocarcinoma(193;1.69e-05)|Kidney(197;0.00173)|KIRC - Kidney renal clear cell carcinoma(197;0.00196)|OV - Ovarian serous cystadenocarcinoma(275;0.0333)		GCAGGGTTGCCGTGCCGGATG	0.701																																						ENST00000231721.2																			0				kidney(1)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)	18						c.(1699-1701)Ggc>Tgc		sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3G							26	26	26					3																	52472026		2201	4286	6487	SO:0001583	missense	56920				multicellular organismal development	extracellular region|membrane	receptor activity	g.chr3:52472026C>A		CCDS2856.1	3p21.1	2013-01-11			ENSG00000010319	ENSG00000010319		"Semaphorins", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	30400	protein-coding gene	gene with protein product						11214971	Standard	XM_005265327		Approved	FLJ00014, sem2	uc003dea.1	Q9NS98	OTTHUMG00000158570	ENST00000231721.2:c.1699G>T	3.37:g.52472026C>A	ENSP00000231721:p.Gly567Cys						p.G567C	NM_020163.1	NP_064548.1	Q9NS98	SEM3G_HUMAN		BRCA - Breast invasive adenocarcinoma(193;1.69e-05)|Kidney(197;0.00173)|KIRC - Kidney renal clear cell carcinoma(197;0.00196)|OV - Ovarian serous cystadenocarcinoma(275;0.0333)	14	1698	-			567					Q7L9D9|Q9H7Q3	Missense_Mutation	SNP	ENST00000231721.2	37	c.1699G>T	CCDS2856.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.405788	0.83230	.	.	ENSG00000010319	ENST00000231721	T	0.25414	1.8	5.09	5.09	0.68999	.	0.190013	0.45361	D	0.000373	T	0.61751	0.2372	H	0.95539	3.685	0.39871	D	0.973502	D	0.89917	1.0	D	0.97110	1.0	T	0.73408	-0.3992	10	0.87932	D	0	.	12.3247	0.55003	0.0:0.9194:0.0:0.0806	.	567	Q9NS98	SEM3G_HUMAN	C	567	ENSP00000231721:G567C	ENSP00000231721:G567C	G	-	1	0	SEMA3G	52447066	0.993000	0.37304	1.000000	0.80357	0.926000	0.56050	3.220000	0.51207	2.662000	0.90505	0.655000	0.94253	GGC		0.701	SEMA3G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351354.1	NM_020163		10	35	1	0	3.86212e-05	1	4.3099e-05	10	35					A	52472026	C	A	52472026	3	1	87	1	0	0	0	0	1	0	0	0	14030	652	23	5	661	5	SEMA3G	3	52472026	Missense_Mutation	SNP	C	TCGA-EJ-7321-01A-31D-2260-08	7528686	52472026	145550404	15	4486											
SMARCA5	8467	broad.mit.edu	37	chr4	144449073	144449073	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agaatgggatgtatgtgtaaCatcttatgaaatgcttatta	14	15	9	3	0	1	2	0	1	1	1	1	3	1	3	0	1	2	3	0	1	7	5			TCGA-EJ-7321-01A-31D-2260-08	TCGA-EJ-7321-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaf38195-2e17-457f-bb4c-a8a44fc5e877	7132d9c7-5196-48c8-a3ce-fa2f34c7be74	g.chr4:144449073C>T	ENST00000283131.3	+	7	1316	c.854C>T	c.(853-855)aCa>aTa	p.T285I		NM_003601.3	NP_003592.3	O60264	SMCA5_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 5	285	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|CENP-A containing nucleosome assembly (GO:0034080)|chromatin remodeling (GO:0006338)|chromatin silencing at rDNA (GO:0000183)|DNA-templated transcription, initiation (GO:0006352)|double-strand break repair (GO:0006302)|nucleosome assembly (GO:0006334)|nucleosome positioning (GO:0016584)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	chromatin silencing complex (GO:0005677)|condensed chromosome (GO:0000793)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|NURF complex (GO:0016589)|RSF complex (GO:0031213)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)		EWSR1/SMARCA5(2)	endometrium(2)|kidney(2)|large_intestine(9)|lung(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	all_hematologic(180;0.158)					GTATGTGTAACATCTTATGAA	0.323																																						ENST00000283131.3																		EWSR1/SMARCA5(2)	0				endometrium(2)|kidney(2)|large_intestine(9)|lung(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(853-855)aCa>aTa		SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 5							118	118	118					4																	144449073		2203	4299	6502	SO:0001583	missense	8467				CenH3-containing nucleosome assembly at centromere|nucleosome positioning|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	condensed chromosome|nucleolus|nucleoplasm|NURF complex|RSF complex	ATP binding|ATPase activity|DNA binding|helicase activity|nucleosome binding|protein binding	g.chr4:144449073C>T	AB010882	CCDS3761.1	4q31.1-q31.2	2011-04-20			ENSG00000153147	ENSG00000153147			11101	protein-coding gene	gene with protein product		603375				9730600	Standard	NM_003601		Approved	hSNF2H, hISWI, ISWI	uc003ijg.3	O60264	OTTHUMG00000161474	ENST00000283131.3:c.854C>T	4.37:g.144449073C>T	ENSP00000283131:p.Thr285Ile						p.T285I	NM_003601.3	NP_003592.3	O60264	SMCA5_HUMAN			7	1316	+	all_hematologic(180;0.158)		285			Helicase ATP-binding.			Missense_Mutation	SNP	ENST00000283131.3	37	c.854C>T	CCDS3761.1	.	.	.	.	.	.	.	.	.	.	C	29.8	5.040295	0.93630	.	.	ENSG00000153147	ENST00000283131;ENST00000536484;ENST00000535006	D	0.95412	-3.7	5.85	5.85	0.93711	DEAD-like helicase (2);SNF2-related (1);	0.000000	0.85682	D	0.000000	D	0.98030	0.9351	M	0.85777	2.775	0.80722	D	1	D	0.65815	0.995	D	0.75484	0.986	D	0.98335	1.0535	10	0.87932	D	0	-3.736	20.1766	0.98178	0.0:1.0:0.0:0.0	.	285	O60264	SMCA5_HUMAN	I	285;228;228	ENSP00000283131:T285I	ENSP00000283131:T285I	T	+	2	0	SMARCA5	144668523	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.725000	0.84808	2.772000	0.95346	0.655000	0.94253	ACA		0.323	SMARCA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365077.3			18	44	0	0	0	1	0	18	44					T	144449073	C	T	144449073	3	4	87	1	0	0	0	0	1	0	0	0	14771	478	17	3	880	3	SMARCA5	4	144449073	Missense_Mutation	SNP	C	TCGA-EJ-7321-01A-31D-2260-08		144449073	46705203	16	4487											
DCHS2	54798	broad.mit.edu	37	chr4	155253865	155253865	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttttgcaagaatccgtcctcGgggatccaagcaaacactct	11	10	8	12	2	1	1	0	0	1	1	5	2	4	2	3	2	3	2	3	2	4	2			TCGA-EJ-7321-01A-31D-2260-08	TCGA-EJ-7321-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaf38195-2e17-457f-bb4c-a8a44fc5e877	7132d9c7-5196-48c8-a3ce-fa2f34c7be74	g.chr4:155253865G>A	ENST00000357232.4	-	9	1997	c.1998C>T	c.(1996-1998)ccC>ccT	p.P666P	DCHS2_ENST00000339452.1_Silent_p.P1165P|DCHS2_ENST00000507542.1_5'Flank	NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	666	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		ATCCGTCCTCGGGGATCCAAG	0.443																																						ENST00000357232.3																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176						c.(1996-1998)ccC>ccT		dachsous cadherin-related 2							91	97	95					4																	155253865		2203	4300	6503	SO:0001819	synonymous_variant	54798				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:155253865G>A	BC140919	CCDS3785.1, CCDS47150.1	4q32.1	2014-06-04	2013-10-04	2004-09-03		ENSG00000197410		"Cadherins / Cadherin-related"	23111	protein-coding gene	gene with protein product	"cadherin-related family member 7"	612486	"cadherin-like 27", "dachsous 2 (Drosophila)"	CDH27, PCDH23		15003449	Standard	NM_017639		Approved	CDHJ, FLJ20047, PCDHJ, CDHR7	uc003inw.2	Q6V1P9		ENST00000357232.4:c.1998C>T	4.37:g.155253865G>A						DCHS2_ENST00000339452.1_Silent_p.P1165P	p.P666P	NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN		LUSC - Lung squamous cell carcinoma(193;0.107)	9	1997	-	all_hematologic(180;0.208)	Renal(120;0.0854)	666			Cadherin 5.		B2RU14|E9PC11|Q4W5P9|Q6ZS61|Q9NXU8	Silent	SNP	ENST00000357232.4	37	c.1998C>T	CCDS3785.1																																																																																				0.443	DCHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365281.2	NM_001142552		7	148	0	0	0	1	0	7	148					A	155253865	G	A	155253865	2	1	87	1	0	0	0	0	0	0	0	1	4288	1103	39	2		2	DCHS2	4	155253865	Silent	SNP	G	TCGA-EJ-7321-01A-31D-2260-08	10804792	155253865	35900411	17	4488											
DDX60	55601	broad.mit.edu	37	chr4	169227602	169227602	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aggcaaagaacatcagattcTtgccctgaggaaagtacaac	16	7	9	9	0	2	3	1	1	1	2	2	4	2	4	1	2	4	2	1	2	5	3			TCGA-EJ-7321-01A-31D-2260-08	TCGA-EJ-7321-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaf38195-2e17-457f-bb4c-a8a44fc5e877	7132d9c7-5196-48c8-a3ce-fa2f34c7be74	g.chr4:169227602T>C	ENST00000393743.3	-	5	825	c.534A>G	c.(532-534)caA>caG	p.Q178Q		NM_017631.5	NP_060101.3	Q8IY21	DDX60_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60	178					defense response to virus (GO:0051607)|innate immune response (GO:0045087)|positive regulation of MDA-5 signaling pathway (GO:1900245)|positive regulation of RIG-I signaling pathway (GO:1900246)|response to virus (GO:0009615)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)	ATP binding (GO:0005524)|double-stranded DNA binding (GO:0003690)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|single-stranded RNA binding (GO:0003727)			breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|urinary_tract(4)	63		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.0485)		CATCAGATTCTTGCCCTGAGG	0.398																																						ENST00000393743.3																			0				breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|urinary_tract(4)	63						c.(532-534)caA>caG		DEAD (Asp-Glu-Ala-Asp) box polypeptide 60							87	88	88					4																	169227602		2203	4300	6503	SO:0001819	synonymous_variant	55601						ATP binding|ATP-dependent helicase activity|RNA binding	g.chr4:169227602T>C	AK001649	CCDS34097.1	4q32.3	2010-02-17			ENSG00000137628	ENSG00000137628			25942	protein-coding gene	gene with protein product		613974				12477932	Standard	NM_017631		Approved	FLJ20035	uc003irp.3	Q8IY21	OTTHUMG00000161350	ENST00000393743.3:c.534A>G	4.37:g.169227602T>C							p.Q178Q	NM_017631.5	NP_060101.3	Q8IY21	DDX60_HUMAN		GBM - Glioblastoma multiforme(119;0.0485)	5	825	-		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)	178					Q6PK35|Q9NVE3	Silent	SNP	ENST00000393743.3	37	c.534A>G	CCDS34097.1																																																																																				0.398	DDX60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364622.1	NM_017631		6	47	0	0	0	1	0	6	47					C	169227602	T	C	169227602	2	2	87	1	0	0	0	0	0	0	0	1	4378	1606	56	4		4	DDX60	4	169227602	Silent	SNP	T	TCGA-EJ-7321-01A-31D-2260-08	13973737	169227602	21926674	18	4489											
ADAMTS12	81792	broad.mit.edu	37	chr5	33630978	33630978	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tccagcattttctcagaaaaCtggccatctatgggtcggca	10	11	9	11	1	2	1	1	0	2	1	5	1	3	1	2	3	2	2	2	3	3	3			TCGA-EJ-7321-01A-31D-2260-08	TCGA-EJ-7321-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaf38195-2e17-457f-bb4c-a8a44fc5e877	7132d9c7-5196-48c8-a3ce-fa2f34c7be74	g.chr5:33630978C>T	ENST00000504830.1	-	13	2264	c.1929G>A	c.(1927-1929)caG>caA	p.Q643Q	ADAMTS12_ENST00000504582.1_5'UTR|ADAMTS12_ENST00000352040.3_Intron	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	643	Cys-rich.				cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cellular response to BMP stimulus (GO:0071773)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of cellular response to hepatocyte growth factor stimulus (GO:2001113)|negative regulation of cellular response to vascular endothelial growth factor stimulus (GO:1902548)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of hepatocyte growth factor receptor signaling pathway (GO:1902203)|proteoglycan catabolic process (GO:0030167)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of endothelial tube morphogenesis (GO:1901509)|regulation of inflammatory response (GO:0050727)	extracellular matrix (GO:0031012)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						TCTCAGAAAACTGGCCATCTA	0.463										HNSCC(64;0.19)																												ENST00000504830.1																			0				NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						c.(1927-1929)caG>caA		ADAM metallopeptidase with thrombospondin type 1 motif, 12							104	104	104					5																	33630978		2203	4300	6503	SO:0001819	synonymous_variant	81792				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:33630978C>T	AJ250725	CCDS34140.1	5q35	2008-07-18	2005-08-19		ENSG00000151388	ENSG00000151388		"ADAM metallopeptidases with thrombospondin type 1 motif"	14605	protein-coding gene	gene with protein product		606184	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 12"			11279086	Standard	NM_030955		Approved		uc003jia.1	P58397	OTTHUMG00000162088	ENST00000504830.1:c.1929G>A	5.37:g.33630978C>T		HNSCC(64;0.19)				ADAMTS12_ENST00000352040.3_Intron|ADAMTS12_ENST00000504582.1_5'UTR	p.Q643Q	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN			13	2264	-			643			Cys-rich.		A2RRN9|A5D6V6|Q6UWL3	Silent	SNP	ENST00000504830.1	37	c.1929G>A	CCDS34140.1																																																																																				0.463	ADAMTS12-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367164.2	NM_030955		8	48	0	0	0	1	0	8	48					T	33630978	C	T	33630978	2	4	87	1	0	0	0	0	0	0	0	1	257	564	20	3		3	ADAMTS12	5	33630978	Silent	SNP	C	TCGA-EJ-7321-01A-31D-2260-08		33630978	147284282	19	4490											
CXXC5	51523	broad.mit.edu	37	chr5	139060933	139060933	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgccggcggcgcatcaactgCgagcagtgcagcagttgtag	8	7	15	11	4	1	0	1	0	0	0	1	1	1	0	1	2	6	6	1	2	2	2			TCGA-EJ-7321-01A-31D-2260-08	TCGA-EJ-7321-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaf38195-2e17-457f-bb4c-a8a44fc5e877	7132d9c7-5196-48c8-a3ce-fa2f34c7be74	g.chr5:139060933C>A	ENST00000302517.3	+	2	1539	c.825C>A	c.(823-825)tgC>tgA	p.C275*	CXXC5_ENST00000511048.1_Nonsense_Mutation_p.C275*|CXXC5_ENST00000515038.1_3'UTR	NM_016463.7	NP_057547.5	Q7LFL8	CXXC5_HUMAN	CXXC finger protein 5	275					positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)	DNA binding (GO:0003677)|signal transducer activity (GO:0004871)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(1)	12			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCATCAACTGCGAGCAGTGCA	0.567																																						ENST00000302517.3																			0				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(1)	12						c.(823-825)tgC>tgA		CXXC finger protein 5							68	79	75					5																	139060933		2018	4167	6185	SO:0001587	stop_gained	51523				positive regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm|nucleus	DNA binding|signal transducer activity|zinc ion binding	g.chr5:139060933C>A	AK024338	CCDS43370.1	5q31.3	2014-02-18	2011-12-01						26943	protein-coding gene	gene with protein product	"retinoid-inducible nuclear factor", "WT1-induced Inhibitor of Dishevelled"	612752				11042152, 19001364, 19182210, 20220130	Standard	NM_016463		Approved	HSPC195, RINF, WID	uc010jfg.1	Q7LFL8		ENST00000302517.3:c.825C>A	5.37:g.139060933C>A	ENSP00000302543:p.Cys275*					CXXC5_ENST00000511048.1_Nonsense_Mutation_p.C275*|CXXC5_ENST00000515038.1_3'UTR	p.C275*	NM_016463.7	NP_057547.5	Q7LFL8	CXXC5_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		2	1539	+			275					B3KND0|C8CBA8|Q8TB79|Q9NV51|Q9P0S8	Nonsense_Mutation	SNP	ENST00000302517.3	37	c.825C>A	CCDS43370.1	.	.	.	.	.	.	.	.	.	.	C	42	9.494402	0.99187	.	.	ENSG00000171604	ENST00000302517;ENST00000511048	.	.	.	5.05	3.24	0.37175	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-15.6052	8.3856	0.32499	0.0:0.6906:0.0:0.3094	.	.	.	.	X	275	.	ENSP00000302543:C275X	C	+	3	2	CXXC5	139041117	0.998000	0.40836	1.000000	0.80357	0.998000	0.95712	0.654000	0.24918	0.510000	0.28216	0.511000	0.50034	TGC		0.567	CXXC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372744.1	NM_016463		3	109	1	0	1	1	1	3	109					A	139060933	C	A	139060933	4	1	87	1	0	0	0	0	0	1	0	0	4099	776	27	5	827	5	CXXC5	5	139060933	Nonsense_Mutation	SNP	C	TCGA-EJ-7321-01A-31D-2260-08	105429955	139060933	41854327	20	4491											
PCDHGA3	56112	broad.mit.edu	37	chr5	140725804	140725804	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gggaggcggcttggcgagtaCgcccggctcgcactttgtgg	4	8	18	11	5	0	0	0	0	0	0	1	2	0	1	1	6	1	4	1	6	1	3			TCGA-EJ-7321-01A-31D-2260-08	TCGA-EJ-7321-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaf38195-2e17-457f-bb4c-a8a44fc5e877	7132d9c7-5196-48c8-a3ce-fa2f34c7be74	g.chr5:140725804C>T	ENST00000253812.6	+	1	2204	c.2204C>T	c.(2203-2205)aCg>aTg	p.T735M	PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018916.3|NM_032011.1	NP_061739.2|NP_114400.1	Q9Y5H0	PCDG3_HUMAN	protocadherin gamma subfamily A, 3	735					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTGGCGAGTACGCCCGGCTCG	0.672																																						ENST00000253812.6																			0				breast(1)	1						c.(2203-2205)aCg>aTg									55	61	59					5																	140725804		2203	4300	6503	SO:0001583	missense	0							g.chr5:140725804C>T	AF152510	CCDS47290.1, CCDS75329.1	5q31	2010-01-26			ENSG00000254245	ENSG00000254245		"Cadherins / Protocadherins : Clustered"	8701	other	protocadherin		606290				10380929	Standard	NM_032011		Approved	PCDH-GAMMA-A3		Q9Y5H0	OTTHUMG00000163680	ENST00000253812.6:c.2204C>T	5.37:g.140725804C>T	ENSP00000253812:p.Thr735Met					PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron	p.T735M	NM_018916.3|NM_032011.1	NP_061739.2|NP_114400.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2204	+								Q9Y5D4	Missense_Mutation	SNP	ENST00000253812.6	37	c.2204C>T	CCDS47290.1	.	.	.	.	.	.	.	.	.	.	.	8.776	0.927193	0.18056	.	.	ENSG00000254245	ENST00000253812	T	0.46819	0.86	5.33	1.49	0.22878	.	1.471000	0.05849	U	0.620860	T	0.17619	0.0423	N	0.01109	-1.01	0.09310	N	1	B;B	0.09022	0.002;0.0	B;B	0.01281	0.0;0.0	T	0.13926	-1.0491	10	0.33940	T	0.23	.	2.011	0.03488	0.1297:0.1443:0.135:0.591	.	735;735	Q9Y5H0-2;Q9Y5H0	.;PCDG3_HUMAN	M	735	ENSP00000253812:T735M	ENSP00000253812:T735M	T	+	2	0	PCDHGA3	140705988	0.000000	0.05858	0.006000	0.13384	0.030000	0.12068	0.510000	0.22723	0.074000	0.16767	-0.414000	0.06135	ACG		0.672	PCDHGA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377017.1	NM_018916		5	93	0	0	0	1	0	5	93					T	140725804	C	T	140725804	3	4	87	1	0	0	0	0	1	0	0	0	11555	536	19	1	2206	1	PCDHGA3	5	140725804	Missense_Mutation	SNP	C	TCGA-EJ-7321-01A-31D-2260-08	1664871	140725804	40189456	21	4492											
OR2H2	7932	broad.mit.edu	37	chr6	29555896	29555896	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agctccactctccaatgtacTttttcctctccaacctctcc	7	14	2	18	0	3	0	0	0	3	0	8	0	5	0	6	0	3	2	6	0	3	3			TCGA-EJ-7321-01A-31D-2260-08	TCGA-EJ-7321-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaf38195-2e17-457f-bb4c-a8a44fc5e877	7132d9c7-5196-48c8-a3ce-fa2f34c7be74	g.chr6:29555896T>G	ENST00000383640.2	+	1	214	c.175T>G	c.(175-177)Ttt>Gtt	p.F59V	GABBR1_ENST00000355973.3_Intron	NM_007160.3	NP_009091.3	O95918	OR2H2_HUMAN	olfactory receptor, family 2, subfamily H, member 2	59					defense response (GO:0006952)|detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|mating (GO:0007618)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)|urinary_tract(1)	14						TCCAATGTACTTTTTCCTCTC	0.527																																						ENST00000383640.2																			0				central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)|urinary_tract(1)	14						c.(175-177)Ttt>Gtt		olfactory receptor, family 2, subfamily H, member 2							213	180	192					6																	29555896		1511	2709	4220	SO:0001583	missense	7932				defense response|mating|sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr6:29555896T>G		CCDS34365.1	6p22.2-p21.31	2012-08-09				ENSG00000204657		"GPCR / Class A : Olfactory receptors"	8253	protein-coding gene	gene with protein product		600578					Standard	XM_005249407		Approved	hs6M1-12	uc003nmr.1	O95918		ENST00000383640.2:c.175T>G	6.37:g.29555896T>G	ENSP00000373136:p.Phe59Val					GABBR1_ENST00000355973.3_Intron	p.F59V	NM_007160.3	NP_009091.3	O95918	OR2H2_HUMAN			1	214	+			59					Q15062|Q2M1Y3|Q5STL8|Q5SUK1|Q6IFN7|Q6NTB7|Q96R14	Missense_Mutation	SNP	ENST00000383640.2	37	c.175T>G	CCDS34365.1	.	.	.	.	.	.	.	.	.	.	T	17.10	3.301950	0.60195	.	.	ENSG00000204657	ENST00000383640	T	0.00555	6.63	4.32	3.13	0.36017	GPCR, rhodopsin-like superfamily (1);	0.000000	0.42172	D	0.000753	T	0.00552	0.0018	H	0.95043	3.615	0.26401	N	0.976416	P	0.41624	0.757	B	0.39185	0.293	T	0.39563	-0.9608	10	0.72032	D	0.01	.	9.2177	0.37358	0.1627:0.0:0.0:0.8373	.	59	O95918	OR2H2_HUMAN	V	59	ENSP00000373136:F59V	ENSP00000373136:F59V	F	+	1	0	OR2H2	29663875	0.996000	0.38824	0.999000	0.59377	0.993000	0.82548	1.084000	0.30828	0.673000	0.31224	0.477000	0.44152	TTT		0.527	OR2H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076057.2			15	108	0	0	0	1	0	15	108					G	29555896	T	G	29555896	3	3	87	1	0	0	0	0	1	0	0	0	11002	1609	56	5	177	5	OR2H2	6	29555896	Missense_Mutation	SNP	T	TCGA-EJ-7321-01A-31D-2260-08		29555896	141559171	22	4493											
PHF3	23469	broad.mit.edu	37	chr6	64404530	64404530	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aatgaaattaaaaaatggcaGctagctcctcttcgtaagat	16	11	7	7	1	1	2	0	1	1	1	3	2	2	2	1	1	2	4	1	1	7	4	rs141874226		TCGA-EJ-7321-01A-31D-2260-08	TCGA-EJ-7321-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaf38195-2e17-457f-bb4c-a8a44fc5e877	7132d9c7-5196-48c8-a3ce-fa2f34c7be74	g.chr6:64404530G>A	ENST00000262043.3	+	6	2896	c.2556G>A	c.(2554-2556)caG>caA	p.Q852Q	PHF3_ENST00000393387.1_Silent_p.Q852Q			Q92576	PHF3_HUMAN	PHD finger protein 3	852					multicellular organismal development (GO:0007275)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)			AAAAATGGCAGCTAGCTCCTC	0.363																																					GBM(135;136 1820 29512 34071 46235)	ENST00000262043.3																			0				breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75						c.(2554-2556)caG>caA		PHD finger protein 3		G		1,4401	2.1+/-5.4	0,1,2200	105	118	114		2556	-0.8	1	6	dbSNP_134	114	0,8600		0,0,4300	no	coding-synonymous	PHF3	NM_015153.2		0,1,6500	AA,AG,GG		0.0,0.0227,0.0077		852/2040	64404530	1,13001	2201	4300	6501	SO:0001819	synonymous_variant	23469				multicellular organismal development|transcription, DNA-dependent	nucleus	zinc ion binding	g.chr6:64404530G>A	AF091622	CCDS4966.1	6q12	2013-09-24			ENSG00000118482	ENSG00000118482		"Zinc fingers, PHD-type"	8921	protein-coding gene	gene with protein product		607789				11856869	Standard	XM_005248701		Approved		uc003pep.1	Q92576	OTTHUMG00000014952	ENST00000262043.3:c.2556G>A	6.37:g.64404530G>A						PHF3_ENST00000393387.1_Silent_p.Q852Q	p.Q852Q			Q92576	PHF3_HUMAN	LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)		6	2896	+	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		852					A3KFI8|Q14CR5|Q5CZI1|Q5T1T6|Q9NQ16|Q9UI45	Silent	SNP	ENST00000262043.3	37	c.2556G>A	CCDS4966.1																																																																																				0.363	PHF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041086.2			3	171	0	0	0	1	0	3	171					A	64404530	G	A	64404530	2	1	87	1	0	0	0	0	0	0	0	1	11836	962	34	3		3	PHF3	6	64404530	Silent	SNP	G	TCGA-EJ-7321-01A-31D-2260-08	34848634	64404530	106710537	23	4494											
GCK	2645	broad.mit.edu	37	chr7	44186174	44186174	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gagcctgagcagcacaagccGcaccagctcgcccatgtact	10	5	10	16	2	0	1	0	1	0	0	1	2	0	1	4	0	6	5	4	0	2	1	rs193922336		TCGA-EJ-7321-01A-31D-2260-08	TCGA-EJ-7321-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaf38195-2e17-457f-bb4c-a8a44fc5e877	7132d9c7-5196-48c8-a3ce-fa2f34c7be74	g.chr7:44186174G>A	ENST00000403799.3	-	8	1376	c.907C>T	c.(907-909)Cgg>Tgg	p.R303W	GCK_ENST00000395796.3_Missense_Mutation_p.R302W|GCK_ENST00000437084.1_Missense_Mutation_p.R286W|GCK_ENST00000345378.2_Missense_Mutation_p.R304W	NM_000162.3	NP_000153.1	P35557	HXK4_HUMAN	glucokinase (hexokinase 4)	303	Hexokinase type-2.				calcium ion import (GO:0070509)|carbohydrate metabolic process (GO:0005975)|cellular glucose homeostasis (GO:0001678)|cellular response to glucose starvation (GO:0042149)|cellular response to insulin stimulus (GO:0032869)|cellular response to leptin stimulus (GO:0044320)|detection of glucose (GO:0051594)|endocrine pancreas development (GO:0031018)|fructose 2,6-bisphosphate metabolic process (GO:0006003)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glucose transport (GO:0015758)|glycogen biosynthetic process (GO:0005978)|glycolytic process (GO:0006096)|hexose transport (GO:0008645)|NADP metabolic process (GO:0006739)|negative regulation of epinephrine secretion (GO:0032811)|negative regulation of gluconeogenesis (GO:0045721)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of glycolytic process (GO:0045821)|positive regulation of insulin secretion (GO:0032024)|positive regulation of phosphorylation (GO:0042327)|regulation of glucose transport (GO:0010827)|regulation of glycolytic process (GO:0006110)|regulation of insulin secretion (GO:0050796)|regulation of potassium ion transport (GO:0043266)|second-messenger-mediated signaling (GO:0019932)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|secretory granule (GO:0030141)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|glucokinase activity (GO:0004340)|glucose binding (GO:0005536)|magnesium ion binding (GO:0000287)			central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	37						AGCACAAGCCGCACCAGCTCG	0.622																																						ENST00000403799.3																			0				central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	37	GRCh37	CM022210	GCK	M		c.(907-909)Cgg>Tgg		glucokinase (hexokinase 4)							102	90	94					7																	44186174		2203	4300	6503	SO:0001583	missense	2645				cellular response to insulin stimulus|cellular response to leptin stimulus|detection of glucose|endocrine pancreas development|glucose homeostasis|glucose transport|glycolysis|negative regulation of gluconeogenesis|positive regulation of glycogen biosynthetic process|positive regulation of insulin secretion|regulation of glucose transport|regulation of glycolysis|transmembrane transport	cytosol|nucleoplasm	ATP binding|glucokinase activity|glucose binding|protein binding	g.chr7:44186174G>A	AF041014	CCDS5479.1, CCDS5480.1, CCDS5481.1	7p15.3-p15.1	2008-02-07	2008-02-07		ENSG00000106633	ENSG00000106633	2.7.1.2, 2.7.1.1		4195	protein-coding gene	gene with protein product		138079	"maturity onset diabetes of the young 2"	MODY2		1740341, 1502186	Standard	NM_033507		Approved	HK4	uc003tkk.1	P35557	OTTHUMG00000022903	ENST00000403799.3:c.907C>T	7.37:g.44186174G>A	ENSP00000384247:p.Arg303Trp					GCK_ENST00000437084.1_Missense_Mutation_p.R286W|GCK_ENST00000345378.2_Missense_Mutation_p.R304W|GCK_ENST00000395796.3_Missense_Mutation_p.R302W	p.R303W	NM_000162.3	NP_000153.1	P35557	HXK4_HUMAN			8	1376	-			303					A4D2J2|A4D2J3|Q05810	Missense_Mutation	SNP	ENST00000403799.3	37	c.907C>T	CCDS5479.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.089922	0.76756	.	.	ENSG00000106633	ENST00000403799;ENST00000395796;ENST00000345378;ENST00000437084	D;D;D;D	0.98987	-5.3;-5.3;-5.3;-5.3	4.77	3.78	0.43462	Hexokinase, C-terminal (1);	0.110586	0.56097	D	0.000026	D	0.99515	0.9827	H	0.97659	4.05	0.58432	D	0.999995	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.996;1.0;0.993	D	0.97794	1.0240	10	0.87932	D	0	-12.9661	13.6137	0.62094	0.0:0.0:0.7463:0.2536	.	303;304;302	P35557;P35557-2;P35557-3	HXK4_HUMAN;.;.	W	303;302;304;286	ENSP00000384247:R303W;ENSP00000379142:R302W;ENSP00000223366:R304W;ENSP00000402840:R286W	ENSP00000223366:R304W	R	-	1	2	GCK	44152699	1.000000	0.71417	0.996000	0.52242	0.844000	0.47949	3.204000	0.51082	2.191000	0.70037	0.591000	0.81541	CGG		0.622	GCK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251069.2			3	111	0	0	0	1	0	3	111					A	44186174	G	A	44186174	3	1	87	1	0	0	0	0	1	0	0	0	6293	1086	38	1	502	1	GCK	7	44186174	Missense_Mutation	SNP	G	TCGA-EJ-7321-01A-31D-2260-08		44186174	114952489	24	4495											
MUC17	140453	broad.mit.edu	37	chr7	100681323	100681323	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tacaacttctgaaggtaccaGcatgccaacctcaactccta	13	9	5	14	0	2	1	1	1	1	0	3	1	3	1	4	1	7	2	4	1	7	4			TCGA-EJ-7321-01A-31D-2260-08	TCGA-EJ-7321-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaf38195-2e17-457f-bb4c-a8a44fc5e877	7132d9c7-5196-48c8-a3ce-fa2f34c7be74	g.chr7:100681323G>A	ENST00000306151.4	+	3	6690	c.6626G>A	c.(6625-6627)aGc>aAc	p.S2209N		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	2209	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					GAAGGTACCAGCATGCCAACC	0.498																																						ENST00000306151.4																			0				NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343						c.(6625-6627)aGc>aAc		mucin 17, cell surface associated							331	327	328					7																	100681323		2203	4298	6501	SO:0001583	missense	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100681323G>A	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"Mucins"	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.6626G>A	7.37:g.100681323G>A	ENSP00000302716:p.Ser2209Asn						p.S2209N	NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN			3	6690	+	Lung NSC(181;0.136)|all_lung(186;0.182)		2209			59 X approximate tandem repeats.|Ser-rich.		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	c.6626G>A	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	G	1.413	-0.575097	0.03882	.	.	ENSG00000169876	ENST00000306151	T	0.02606	4.23	0.762	-1.52	0.08637	.	.	.	.	.	T	0.01695	0.0054	N	0.14661	0.345	0.09310	N	1	B	0.20261	0.043	B	0.12156	0.007	T	0.48490	-0.9031	9	0.23302	T	0.38	.	5.6696	0.17715	0.0:0.3383:0.6616:0.0	.	2209	Q685J3	MUC17_HUMAN	N	2209	ENSP00000302716:S2209N	ENSP00000302716:S2209N	S	+	2	0	MUC17	100468043	0.000000	0.05858	0.015000	0.15790	0.016000	0.09150	-0.102000	0.10956	0.132000	0.18615	0.134000	0.15878	AGC		0.498	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		63	464	0	0	0	1	0	63	464					A	100681323	G	A	100681323	3	1	87	1	0	0	0	0	1	0	0	0	9974	971	34	3	6636	3	MUC17	7	100681323	Missense_Mutation	SNP	G	TCGA-EJ-7321-01A-31D-2260-08	56495149	100681323	58457340	25	4496											
LETM2	137994	broad.mit.edu	37	chr8	38260146	38260146	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tctcacggaggaacaactgcGacaacagctcacggaggcaa	14	4	11	12	3	2	0	2	0	1	0	3	4	2	3	0	4	5	2	0	4	4	0	rs376204298		TCGA-EJ-7321-01A-31D-2260-08	TCGA-EJ-7321-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaf38195-2e17-457f-bb4c-a8a44fc5e877	7132d9c7-5196-48c8-a3ce-fa2f34c7be74	g.chr8:38260146G>A	ENST00000379957.4	+	7	1215	c.1088G>A	c.(1087-1089)cGa>cAa	p.R363Q	LETM2_ENST00000297720.5_Missense_Mutation_p.R268Q|LETM2_ENST00000528827.1_3'UTR|RP11-350N15.3_ENST00000533301.1_RNA|LETM2_ENST00000527710.1_Missense_Mutation_p.R149Q|LETM2_ENST00000523983.2_Missense_Mutation_p.R316Q|LETM2_ENST00000524874.1_Missense_Mutation_p.R315Q	NM_001199659.1	NP_001186588.1	Q2VYF4	LETM2_HUMAN	leucine zipper-EF-hand containing transmembrane protein 2	363	LETM1.					integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)				NS(1)|large_intestine(1)|lung(3)|prostate(2)	7	all_cancers(2;6.77e-47)|all_epithelial(2;1.01e-50)|all_lung(3;1.25e-23)|Lung NSC(2;2.76e-23)|Colorectal(12;0.000442)|Esophageal squamous(3;0.00202)	all_lung(54;0.0657)|Hepatocellular(245;0.152)|Lung NSC(58;0.175)	Epithelial(3;1.17e-42)|all cancers(3;5.44e-38)|BRCA - Breast invasive adenocarcinoma(5;5.44e-27)|LUSC - Lung squamous cell carcinoma(2;7.12e-25)|Lung(2;4.49e-22)|COAD - Colon adenocarcinoma(9;0.114)			GAACAACTGCGACAACAGCTC	0.537																																						ENST00000379957.4																			0				NS(1)|large_intestine(1)|lung(3)|prostate(2)	7						c.(1087-1089)cGa>cAa		leucine zipper-EF-hand containing transmembrane protein 2		G	GLN/ARG,GLN/ARG,GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	94	79	84		947,479,803	1.8	0	8		84	0,8600		0,0,4300	no	missense,missense,missense	LETM2	NM_001199659.1,NM_001199660.1,NM_144652.2	43,43,43	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging,probably-damaging	316/445,160/289,268/397	38260146	1,13005	2203	4300	6503	SO:0001583	missense	137994					integral to membrane|mitochondrial inner membrane		g.chr8:38260146G>A	AK058138	CCDS6106.1, CCDS56534.1, CCDS69466.1, CCDS75731.1	8p12	2013-01-11						"EF-hand domain containing"	14648	protein-coding gene	gene with protein product						11549311	Standard	NM_001286821		Approved	FLJ25409	uc003xlm.2	Q2VYF4		ENST00000379957.4:c.1088G>A	8.37:g.38260146G>A	ENSP00000369291:p.Arg363Gln					LETM2_ENST00000524874.1_Missense_Mutation_p.R315Q|LETM2_ENST00000528827.1_3'UTR|LETM2_ENST00000523983.2_Missense_Mutation_p.R316Q|LETM2_ENST00000527710.1_Missense_Mutation_p.R149Q|LETM2_ENST00000297720.5_Missense_Mutation_p.R268Q	p.R363Q	NM_001199659.1	NP_001186588.1	Q2VYF4	LETM2_HUMAN	Epithelial(3;1.17e-42)|all cancers(3;5.44e-38)|BRCA - Breast invasive adenocarcinoma(5;5.44e-27)|LUSC - Lung squamous cell carcinoma(2;7.12e-25)|Lung(2;4.49e-22)|COAD - Colon adenocarcinoma(9;0.114)		7	1215	+	all_cancers(2;6.77e-47)|all_epithelial(2;1.01e-50)|all_lung(3;1.25e-23)|Lung NSC(2;2.76e-23)|Colorectal(12;0.000442)|Esophageal squamous(3;0.00202)	all_lung(54;0.0657)|Hepatocellular(245;0.152)|Lung NSC(58;0.175)	363			LETM1.		A6NMG3|Q8NCR2|Q96LL1	Missense_Mutation	SNP	ENST00000379957.4	37	c.1088G>A		.	.	.	.	.	.	.	.	.	.	G	12.52	1.962879	0.34659	2.27E-4	0.0	ENSG00000165046	ENST00000297720;ENST00000524874;ENST00000379957;ENST00000523983;ENST00000527710	T;T;T;T;T	0.47528	0.84;0.84;0.84;0.84;0.84	5.63	1.78	0.24846	LETM1-like (1);	0.435366	0.25674	N	0.029056	T	0.45094	0.1325	M	0.71581	2.175	0.38884	D	0.956962	B;P;D	0.54397	0.16;0.593;0.966	B;B;P	0.46389	0.027;0.227;0.515	T	0.44019	-0.9355	10	0.56958	D	0.05	-3.9949	3.2724	0.06887	0.4112:0.0:0.399:0.1898	.	160;363;315	B7Z7T4;Q2VYF4;E9PMA4	.;LETM2_HUMAN;.	Q	268;315;363;316;149	ENSP00000297720:R268Q;ENSP00000431211:R315Q;ENSP00000369291:R363Q;ENSP00000428765:R316Q;ENSP00000434867:R149Q	ENSP00000297720:R268Q	R	+	2	0	LETM2	38379303	0.134000	0.22483	0.028000	0.17463	0.502000	0.33828	1.166000	0.31834	0.294000	0.22547	-1.131000	0.01979	CGA		0.537	LETM2-013	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000381816.1	NM_144652		4	57	0	0	0	1	0	4	57					A	38260146	G	A	38260146	3	1	87	1	0	0	0	0	1	0	0	0	8735	1058	37	2	817	2	LETM2	8	38260146	Missense_Mutation	SNP	G	TCGA-EJ-7321-01A-31D-2260-08		38260146	108103876	26	4497											
ADAM9	8754	broad.mit.edu	37	chr8	38880724	38880724	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gctagttggactggagatttGgaccaatggaaacctgatca	12	10	12	7	0	1	2	1	1	0	1	1	6	1	5	2	4	1	2	2	4	3	3			TCGA-EJ-7321-01A-31D-2260-08	TCGA-EJ-7321-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaf38195-2e17-457f-bb4c-a8a44fc5e877	7132d9c7-5196-48c8-a3ce-fa2f34c7be74	g.chr8:38880724G>A	ENST00000487273.2	+	9	872	c.794G>A	c.(793-795)tGg>tAg	p.W265*		NM_003816.2	NP_003807.1	Q13443	ADAM9_HUMAN	ADAM metallopeptidase domain 9	265	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				activation of MAPKK activity (GO:0000186)|cell adhesion (GO:0007155)|cell adhesion mediated by integrin (GO:0033627)|cell-cell adhesion mediated by integrin (GO:0033631)|cell-matrix adhesion (GO:0007160)|cellular response to lipopolysaccharide (GO:0071222)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|keratinocyte differentiation (GO:0030216)|membrane protein ectodomain proteolysis (GO:0006509)|monocyte activation (GO:0042117)|PMA-inducible membrane protein ectodomain proteolysis (GO:0051088)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of keratinocyte migration (GO:0051549)|positive regulation of macrophage fusion (GO:0034241)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|positive regulation of protein secretion (GO:0050714)|response to calcium ion (GO:0051592)|response to glucocorticoid (GO:0051384)|response to hydrogen peroxide (GO:0042542)|response to laminar fluid shear stress (GO:0034616)|response to manganese ion (GO:0010042)|response to tumor necrosis factor (GO:0034612)|transforming growth factor beta receptor signaling pathway (GO:0007179)	basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intrinsic component of external side of plasma membrane (GO:0031233)	collagen binding (GO:0005518)|integrin binding (GO:0005178)|laminin binding (GO:0043236)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|protein kinase C binding (GO:0005080)|SH3 domain binding (GO:0017124)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		all_lung(54;0.00292)|Lung NSC(58;0.0115)|Hepatocellular(245;0.0153)	LUSC - Lung squamous cell carcinoma(45;2.74e-07)			CTGGAGATTTGGACCAATGGA	0.393																																						ENST00000487273.2																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						c.(793-795)tGg>tAg		ADAM metallopeptidase domain 9							160	146	151					8																	38880724		2203	4300	6503	SO:0001587	stop_gained	8754				activation of MAPKK activity|cell-cell adhesion mediated by integrin|cell-matrix adhesion|keratinocyte differentiation|monocyte activation|PMA-inducible membrane protein ectodomain proteolysis|positive regulation of cell adhesion mediated by integrin|positive regulation of keratinocyte migration|positive regulation of macrophage fusion|positive regulation of membrane protein ectodomain proteolysis|positive regulation of protein secretion|response to calcium ion|response to glucocorticoid stimulus|response to hydrogen peroxide|response to manganese ion|response to tumor necrosis factor|transforming growth factor beta receptor signaling pathway	extracellular space|integral to membrane|intrinsic to external side of plasma membrane	collagen binding|integrin binding|laminin binding|metalloendopeptidase activity|protein kinase C binding|SH3 domain binding|zinc ion binding	g.chr8:38880724G>A	U41766	CCDS6112.1	8p11.23	2011-03-18	2010-06-24		ENSG00000168615	ENSG00000168615		"ADAM metallopeptidase domain containing"	216	protein-coding gene	gene with protein product	"meltrin gamma"	602713	"a disintegrin and metalloproteinase domain 9 (meltrin gamma)", "cone rod dystrophy 9"	CORD9		8647900, 11581183, 19409519	Standard	NR_027638		Approved	MDC9, KIAA0021, MCMP, Mltng	uc003xmr.3	Q13443	OTTHUMG00000159783	ENST00000487273.2:c.794G>A	8.37:g.38880724G>A	ENSP00000419446:p.Trp265*						p.W265*	NM_003816.2	NP_003807.1	Q13443	ADAM9_HUMAN	LUSC - Lung squamous cell carcinoma(45;2.74e-07)		9	872	+		all_lung(54;0.00292)|Lung NSC(58;0.0115)|Hepatocellular(245;0.0153)	265			Peptidase M12B.		B7ZLN7|Q10718|Q8NFM6	Nonsense_Mutation	SNP	ENST00000487273.2	37	c.794G>A	CCDS6112.1	.	.	.	.	.	.	.	.	.	.	G	38	6.638824	0.97726	.	.	ENSG00000168615	ENST00000487273	.	.	.	5.91	5.91	0.95273	.	0.104081	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	20.2946	0.98546	0.0:0.0:1.0:0.0	.	.	.	.	X	265	.	ENSP00000369249:W265X	W	+	2	0	ADAM9	38999881	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	9.358000	0.97109	2.804000	0.96469	0.462000	0.41574	TGG		0.393	ADAM9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357291.2			4	84	0	0	0	1	0	4	84					A	38880724	G	A	38880724	4	1	87	1	0	0	0	0	0	1	0	0	253	1357	47	3	828	3	ADAM9	8	38880724	Nonsense_Mutation	SNP	G	TCGA-EJ-7321-01A-31D-2260-08	620578	38880724	107483298	27	4498			1	13		2	2	17	G		3.04937e-05
ADAM9	8754	broad.mit.edu	37	chr8	38880740	38880740	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atttggaccaatggaaacctGatcaacatagttgggggtgc	12	10	12	7	0	1	1	1	1	0	0	1	3	1	3	2	4	3	1	2	4	4	3			TCGA-EJ-7321-01A-31D-2260-08	TCGA-EJ-7321-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaf38195-2e17-457f-bb4c-a8a44fc5e877	7132d9c7-5196-48c8-a3ce-fa2f34c7be74	g.chr8:38880740G>A	ENST00000487273.2	+	9	888	c.810G>A	c.(808-810)ctG>ctA	p.L270L		NM_003816.2	NP_003807.1	Q13443	ADAM9_HUMAN	ADAM metallopeptidase domain 9	270	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				activation of MAPKK activity (GO:0000186)|cell adhesion (GO:0007155)|cell adhesion mediated by integrin (GO:0033627)|cell-cell adhesion mediated by integrin (GO:0033631)|cell-matrix adhesion (GO:0007160)|cellular response to lipopolysaccharide (GO:0071222)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|keratinocyte differentiation (GO:0030216)|membrane protein ectodomain proteolysis (GO:0006509)|monocyte activation (GO:0042117)|PMA-inducible membrane protein ectodomain proteolysis (GO:0051088)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of keratinocyte migration (GO:0051549)|positive regulation of macrophage fusion (GO:0034241)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|positive regulation of protein secretion (GO:0050714)|response to calcium ion (GO:0051592)|response to glucocorticoid (GO:0051384)|response to hydrogen peroxide (GO:0042542)|response to laminar fluid shear stress (GO:0034616)|response to manganese ion (GO:0010042)|response to tumor necrosis factor (GO:0034612)|transforming growth factor beta receptor signaling pathway (GO:0007179)	basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intrinsic component of external side of plasma membrane (GO:0031233)	collagen binding (GO:0005518)|integrin binding (GO:0005178)|laminin binding (GO:0043236)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|protein kinase C binding (GO:0005080)|SH3 domain binding (GO:0017124)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		all_lung(54;0.00292)|Lung NSC(58;0.0115)|Hepatocellular(245;0.0153)	LUSC - Lung squamous cell carcinoma(45;2.74e-07)			ATGGAAACCTGATCAACATAG	0.413																																						ENST00000487273.2																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						c.(808-810)ctG>ctA		ADAM metallopeptidase domain 9							167	151	156					8																	38880740		2203	4300	6503	SO:0001819	synonymous_variant	8754				activation of MAPKK activity|cell-cell adhesion mediated by integrin|cell-matrix adhesion|keratinocyte differentiation|monocyte activation|PMA-inducible membrane protein ectodomain proteolysis|positive regulation of cell adhesion mediated by integrin|positive regulation of keratinocyte migration|positive regulation of macrophage fusion|positive regulation of membrane protein ectodomain proteolysis|positive regulation of protein secretion|response to calcium ion|response to glucocorticoid stimulus|response to hydrogen peroxide|response to manganese ion|response to tumor necrosis factor|transforming growth factor beta receptor signaling pathway	extracellular space|integral to membrane|intrinsic to external side of plasma membrane	collagen binding|integrin binding|laminin binding|metalloendopeptidase activity|protein kinase C binding|SH3 domain binding|zinc ion binding	g.chr8:38880740G>A	U41766	CCDS6112.1	8p11.23	2011-03-18	2010-06-24		ENSG00000168615	ENSG00000168615		"ADAM metallopeptidase domain containing"	216	protein-coding gene	gene with protein product	"meltrin gamma"	602713	"a disintegrin and metalloproteinase domain 9 (meltrin gamma)", "cone rod dystrophy 9"	CORD9		8647900, 11581183, 19409519	Standard	NR_027638		Approved	MDC9, KIAA0021, MCMP, Mltng	uc003xmr.3	Q13443	OTTHUMG00000159783	ENST00000487273.2:c.810G>A	8.37:g.38880740G>A							p.L270L	NM_003816.2	NP_003807.1	Q13443	ADAM9_HUMAN	LUSC - Lung squamous cell carcinoma(45;2.74e-07)		9	888	+		all_lung(54;0.00292)|Lung NSC(58;0.0115)|Hepatocellular(245;0.0153)	270			Peptidase M12B.		B7ZLN7|Q10718|Q8NFM6	Silent	SNP	ENST00000487273.2	37	c.810G>A	CCDS6112.1																																																																																				0.413	ADAM9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357291.2			5	94	0	0	0	1	0	5	94					A	38880740	G	A	38880740	2	1	87	1	0	0	0	0	0	0	0	1	253	1277	45	3		3	ADAM9	8	38880740	Silent	SNP	G	TCGA-EJ-7321-01A-31D-2260-08	16	38880740	107483282	28	4499			1	13		2	2	17	G		3.04937e-05
COL27A1	85301	broad.mit.edu	37	chr9	116968050	116968050	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctttgcaggggcagccaggAcctgagggcagcccaggggc	7	4	17	13	0	0	1	0	1	0	0	0	2	0	2	4	6	3	3	4	6	0	1			TCGA-EJ-7321-01A-31D-2260-08	TCGA-EJ-7321-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaf38195-2e17-457f-bb4c-a8a44fc5e877	7132d9c7-5196-48c8-a3ce-fa2f34c7be74	g.chr9:116968050A>G	ENST00000356083.3	+	9	2572	c.2181A>G	c.(2179-2181)ggA>ggG	p.G727G		NM_032888.2	NP_116277.2	Q8IZC6	CORA1_HUMAN	collagen, type XXVII, alpha 1	727	Collagen-like 2.|Pro-rich.|Triple-helical region.				extracellular matrix organization (GO:0030198)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|fibrillar collagen trimer (GO:0005583)	extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)			central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						GGCAGCCAGGACCTGAGGGCA	0.587																																						ENST00000356083.3																			0				central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						c.(2179-2181)ggA>ggG		collagen, type XXVII, alpha 1							66	72	70					9																	116968050		2203	4300	6503	SO:0001819	synonymous_variant	85301				cell adhesion		extracellular matrix structural constituent	g.chr9:116968050A>G	AB058773	CCDS6802.1	9q33.1	2013-01-16			ENSG00000196739	ENSG00000196739		"Collagens"	22986	protein-coding gene	gene with protein product		608461				12766169	Standard	NM_032888		Approved	KIAA1870, MGC11337, FLJ11895	uc011lxl.2	Q8IZC6	OTTHUMG00000020537	ENST00000356083.3:c.2181A>G	9.37:g.116968050A>G							p.G727G	NM_032888.2	NP_116277.2	Q8IZC6	CORA1_HUMAN			9	2572	+			727			Collagen-like 2.|Pro-rich.|Triple-helical region.		Q66K43|Q96JF7	Silent	SNP	ENST00000356083.3	37	c.2181A>G	CCDS6802.1																																																																																				0.587	COL27A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053763.1	NM_032888		22	55	0	0	0	1	0	22	55					G	116968050	A	G	116968050	2	3	87	1	0	0	0	0	0	0	0	1	3685	262	10	4		4	COL27A1	9	116968050	Silent	SNP	A	TCGA-EJ-7321-01A-31D-2260-08		116968050	24245381	29	4500											
LAMC3	10319	broad.mit.edu	37	chr9	133952674	133952674	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccaccgtgcagcaagttggcGcagatacagccccgtacctg	9	6	11	15	3	0	1	0	0	0	1	0	1	0	1	5	1	5	5	5	1	3	3	rs113975085	byFrequency	TCGA-EJ-7321-01A-31D-2260-08	TCGA-EJ-7321-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaf38195-2e17-457f-bb4c-a8a44fc5e877	7132d9c7-5196-48c8-a3ce-fa2f34c7be74	g.chr9:133952674G>A	ENST00000361069.4	+	22	3863	c.3730G>A	c.(3730-3732)Gca>Aca	p.A1244T	LAMC3_ENST00000480883.1_Intron	NM_006059.3	NP_006050.3	Q9Y6N6	LAMC3_HUMAN	laminin, gamma 3	1244	Domain II and I.				astrocyte development (GO:0014002)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|extracellular matrix organization (GO:0030198)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	structural molecule activity (GO:0005198)			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(31)|ovary(3)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	69	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)		GCAAGTTGGCGCAGATACAGC	0.617													G|||	2	0.000399361	0	0	5008	,	,		17551	0.002		0	False		,,,				2504	0					ENST00000361069.4																			0				endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(31)|ovary(3)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	69						c.(3730-3732)Gca>Aca		laminin, gamma 3		G	THR/ALA	0,4406		0,0,2203	76	68	71		3730	-7.8	0	9	dbSNP_132	71	1,8599	1.2+/-3.3	0,1,4299	yes	missense	LAMC3	NM_006059.3	58	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	1244/1576	133952674	1,13005	2203	4300	6503	SO:0001583	missense	10319				cell adhesion	basement membrane|membrane	structural molecule activity	g.chr9:133952674G>A	AF041835	CCDS6938.1	9q31-q34	2013-03-01			ENSG00000050555	ENSG00000050555		"Laminins"	6494	protein-coding gene	gene with protein product		604349				10225960	Standard	NM_006059		Approved	DKFZp434E202	uc004caa.1	Q9Y6N6	OTTHUMG00000020819	ENST00000361069.4:c.3730G>A	9.37:g.133952674G>A	ENSP00000354360:p.Ala1244Thr					LAMC3_ENST00000480883.1_Intron	p.A1244T	NM_006059.3	NP_006050.3	Q9Y6N6	LAMC3_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)	22	3863	+	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)	1244			Domain II and I.		B1APX9|B1APY0|Q59H72	Missense_Mutation	SNP	ENST00000361069.4	37	c.3730G>A	CCDS6938.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	13.30	2.194638	0.38806	0.0	1.16E-4	ENSG00000050555	ENST00000361069;ENST00000355048	T	0.28069	1.63	4.72	-7.85	0.01192	.	2.733290	0.01218	N	0.008031	T	0.13756	0.0333	N	0.08118	0	0.09310	N	1	B	0.15141	0.012	B	0.14023	0.01	T	0.16748	-1.0392	10	0.39692	T	0.17	.	5.6818	0.17780	0.4842:0.0:0.3082:0.2076	.	1244	Q9Y6N6	LAMC3_HUMAN	T	1244	ENSP00000354360:A1244T	ENSP00000347156:A1244T	A	+	1	0	LAMC3	132942495	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-0.510000	0.06328	-1.265000	0.02449	-0.333000	0.08304	GCA		0.617	LAMC3-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054717.3	NM_006059		5	99	0	0	0	1	0	5	99					A	133952674	G	A	133952674	3	1	87	1	0	0	0	0	1	0	0	0	8616	1087	38	1	3816	1	LAMC3	9	133952674	Missense_Mutation	SNP	G	TCGA-EJ-7321-01A-31D-2260-08	16984624	133952674	7260757	30	4501											
CUBN	8029	broad.mit.edu	37	chr10	16955876	16955876	+	Frame_Shift_Del	DEL	C	C	-																															ttgttaaacattagggtgatCcgccttccctccggggcagt																										TCGA-EJ-7321-01A-31D-2260-08	TCGA-EJ-7321-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaf38195-2e17-457f-bb4c-a8a44fc5e877	7132d9c7-5196-48c8-a3ce-fa2f34c7be74	g.chr10:16955876delC	ENST00000377833.4	-	48	7532	c.7467delG	c.(7465-7467)cggfs	p.R2489fs		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	2489	CUB 18. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cholesterol metabolic process (GO:0008203)|cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|tissue homeostasis (GO:0001894)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|cobalamin binding (GO:0031419)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)|transporter activity (GO:0005215)			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TTAGGGTGATCCGCCTTCCCT	0.517																																						ENST00000377833.4																			0				breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241						c.(7465-7467)cgfs		cubilin (intrinsic factor-cobalamin receptor)	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)						148	133	138					10																	16955876		2203	4300	6503	SO:0001589	frameshift_variant	8029				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity	g.chr10:16955876delC	AF034611	CCDS7113.1	10p12	2014-09-17			ENSG00000107611	ENSG00000107611			2548	protein-coding gene	gene with protein product		602997		MGA1		9572993, 9478979	Standard	NM_001081		Approved	IFCR, gp280	uc001ioo.3	O60494	OTTHUMG00000017741	ENST00000377833.4:c.7467delG	10.37:g.16955876delC	ENSP00000367064:p.Arg2489fs						p.R2489fs	NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN			48	7532	-			2489			CUB 18.		B0YIZ4|Q5VTA6|Q96RU9	Frame_Shift_Del	DEL	ENST00000377833.4	37	c.7467delG	CCDS7113.1																																																																																				0.517	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047009.1	NM_001081		41	246						41	246	---	---	---	---	-	16955876	C	-	16955876	7	5	87	1	0	1	0	1	0	0	0	0	4051	842	30	0	3484	0	CUBN	10	16955876	Frame_Shift_Del	DEL	C	TCGA-EJ-7321-01A-31D-2260-08		16955876	118578871	31	4502											
NLRP6	171389	broad.mit.edu	37	chr11	281566	281566	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agagccagaggaggaggaggAgggagaggagcccaactacc	14	1	18	8	0	0	3	0	0	0	3	0	9	0	8	3	6	4	0	3	6	2	1			TCGA-EJ-7321-01A-31D-2260-08	TCGA-EJ-7321-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaf38195-2e17-457f-bb4c-a8a44fc5e877	7132d9c7-5196-48c8-a3ce-fa2f34c7be74	g.chr11:281566A>G	ENST00000312165.5	+	4	1832	c.1832A>G	c.(1831-1833)gAg>gGg	p.E611G	NLRP6_ENST00000534750.1_Missense_Mutation_p.E611G	NM_138329.1	NP_612202.2	P59044	NALP6_HUMAN	NLR family, pyrin domain containing 6	611	Poly-Glu.				G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of immune response (GO:0050777)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|regulation of inflammatory response (GO:0050727)|response to bacterium (GO:0009617)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|vasopressin receptor activity (GO:0005000)			breast(1)|skin(1)|upper_aerodigestive_tract(2)	4		all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;4.28e-28)|Epithelial(43;2.47e-27)|OV - Ovarian serous cystadenocarcinoma(40;4.66e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.0485)|LUSC - Lung squamous cell carcinoma(625;0.122)		GAGGAGGAGGAGGGAGAGGAG	0.662																																						ENST00000534750.1																			0				breast(1)|skin(1)|upper_aerodigestive_tract(2)	4						c.(1831-1833)gAg>gGg		NLR family, pyrin domain containing 6							76	89	84					11																	281566		2203	4299	6502	SO:0001583	missense	171389					cytoplasm	ATP binding	g.chr11:281566A>G	AF479748	CCDS7693.1, CCDS60680.1	11p15	2006-12-08	2006-12-08	2006-12-08	ENSG00000174885	ENSG00000174885		"Nucleotide-binding domain and leucine rich repeat containing"	22944	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 6"	609650	"NACHT, leucine rich repeat and PYD containing 6"	NALP6		12563287, 12019269	Standard	NM_138329		Approved	PYPAF5, PAN3, CLR11.4	uc010qvs.3	P59044	OTTHUMG00000119070	ENST00000312165.5:c.1832A>G	11.37:g.281566A>G	ENSP00000309767:p.Glu611Gly					NLRP6_ENST00000312165.5_Missense_Mutation_p.E611G	p.E611G	NM_001276700.1	NP_001263629.1	P59044	NALP6_HUMAN		all cancers(45;4.28e-28)|Epithelial(43;2.47e-27)|OV - Ovarian serous cystadenocarcinoma(40;4.66e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.0485)|LUSC - Lung squamous cell carcinoma(625;0.122)	4	2037	+		all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)	611			Poly-Glu.		A8K9F3|E9PJZ8	Missense_Mutation	SNP	ENST00000312165.5	37	c.1832A>G	CCDS7693.1	.	.	.	.	.	.	.	.	.	.	A	10.81	1.454845	0.26161	.	.	ENSG00000174885	ENST00000534750;ENST00000312165	T;T	0.75367	-0.93;-0.9	3.22	3.22	0.36961	.	0.671525	0.12247	N	0.485944	T	0.80204	0.4580	L	0.57536	1.79	0.32256	N	0.570815	D;D	0.71674	0.998;0.998	D;D	0.72982	0.979;0.979	T	0.76013	-0.3114	10	0.21540	T	0.41	.	8.1671	0.31233	1.0:0.0:0.0:0.0	.	611;611	E9PJZ8;P59044	.;NALP6_HUMAN	G	611	ENSP00000433617:E611G;ENSP00000309767:E611G	ENSP00000309767:E611G	E	+	2	0	NLRP6	271566	0.811000	0.29063	0.618000	0.29105	0.573000	0.36030	0.753000	0.26376	1.704000	0.51252	0.379000	0.24179	GAG		0.662	NLRP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239283.1	NM_138329		4	156	0	0	0	1	0	4	156					G	281566	A	G	281566	3	3	87	1	0	0	0	0	1	0	0	0	10481	304	11	4	1846	4	NLRP6	11	281566	Missense_Mutation	SNP	A	TCGA-EJ-7321-01A-31D-2260-08		281566	134724950	32	4503											
CHID1	66005	broad.mit.edu	37	chr11	899384	899384	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttccagacctccaccacgaaGccatcgaaatgctggttctg	10	9	8	14	2	1	1	0	0	1	1	4	3	3	1	5	1	2	2	5	1	2	2			TCGA-EJ-7321-01A-31D-2260-08	TCGA-EJ-7321-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaf38195-2e17-457f-bb4c-a8a44fc5e877	7132d9c7-5196-48c8-a3ce-fa2f34c7be74	g.chr11:899384G>T	ENST00000449825.1	-	7	920	c.564C>A	c.(562-564)ggC>ggA	p.G188G	CHID1_ENST00000429789.2_Silent_p.G188G|CHID1_ENST00000436108.2_Silent_p.G188G|CHID1_ENST00000336845.5_Silent_p.G213G|CHID1_ENST00000454838.2_Silent_p.G213G|CHID1_ENST00000528581.1_Silent_p.G213G|CHID1_ENST00000526714.1_5'UTR|CHID1_ENST00000323578.8_Silent_p.G188G|CHID1_ENST00000323541.7_Silent_p.G218G	NM_001142675.1	NP_001136147.1	Q9BWS9	CHID1_HUMAN	chitinase domain containing 1	188					carbohydrate metabolic process (GO:0005975)|chitin catabolic process (GO:0006032)|innate immune response (GO:0045087)|negative regulation of cytokine production involved in inflammatory response (GO:1900016)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	chitinase activity (GO:0004568)|oligosaccharide binding (GO:0070492)	p.G188G(1)		endometrium(4)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1)	13		all_cancers(49;9.46e-06)|Breast(177;0.00257)|all_epithelial(84;0.0027)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;5.48e-25)|Epithelial(43;3.75e-24)|BRCA - Breast invasive adenocarcinoma(625;4.65e-05)|Lung(200;0.0624)|LUSC - Lung squamous cell carcinoma(625;0.0735)		CCACCACGAAGCCATCGAAAT	0.622																																					Pancreas(117;992 2327 5172 41921)	ENST00000449825.1																			1	Substitution - coding silent(1)	p.G188G(1)	endometrium(1)	endometrium(4)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1)	13						c.(562-564)ggC>ggA		chitinase domain containing 1							75	54	61					11																	899384		2200	4296	6496	SO:0001819	synonymous_variant	66005				chitin catabolic process|innate immune response	extracellular region|lysosome	cation binding|chitinase activity	g.chr11:899384G>T	AK124697	CCDS7722.1, CCDS44510.1, CCDS44511.1	11p15.5	2005-10-27			ENSG00000177830	ENSG00000177830			28474	protein-coding gene	gene with protein product		615692					Standard	NM_023947		Approved	MGC3234, FLJ42707	uc001lsm.3	Q9BWS9	OTTHUMG00000133314	ENST00000449825.1:c.564C>A	11.37:g.899384G>T						CHID1_ENST00000454838.2_Silent_p.G213G|CHID1_ENST00000336845.5_Silent_p.G213G|CHID1_ENST00000528581.1_Silent_p.G213G|CHID1_ENST00000436108.2_Silent_p.G188G|CHID1_ENST00000429789.2_Silent_p.G188G|CHID1_ENST00000526714.1_5'UTR|CHID1_ENST00000323541.7_Silent_p.G218G|CHID1_ENST00000323578.8_Silent_p.G188G	p.G188G	NM_001142675.1	NP_001136147.1	Q9BWS9	CHID1_HUMAN		all cancers(45;5.48e-25)|Epithelial(43;3.75e-24)|BRCA - Breast invasive adenocarcinoma(625;4.65e-05)|Lung(200;0.0624)|LUSC - Lung squamous cell carcinoma(625;0.0735)	7	920	-		all_cancers(49;9.46e-06)|Breast(177;0.00257)|all_epithelial(84;0.0027)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)	188					B3KWB0|Q8NBM9|Q96CZ3|Q96S93|Q96SK0|Q9BY52	Silent	SNP	ENST00000449825.1	37	c.564C>A	CCDS7722.1																																																																																				0.622	CHID1-203	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257112.1	NM_023947		4	16	1	0	0.014758	1	0.0153563	4	16					T	899384	G	T	899384	2	4	87	1	0	0	0	0	0	0	0	1	3345	958	34	5		5	CHID1	11	899384	Silent	SNP	G	TCGA-EJ-7321-01A-31D-2260-08	617818	899384	134107132	33	4504											
OR56A1	120796	broad.mit.edu	37	chr11	6048918	6048918	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggagctgttgctgggtgacGccataggctgaatcatgagc	8	10	15	8	1	1	3	1	3	0	0	1	4	1	4	1	3	3	4	1	3	2	2			TCGA-EJ-7321-01A-31D-2260-08	TCGA-EJ-7321-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaf38195-2e17-457f-bb4c-a8a44fc5e877	7132d9c7-5196-48c8-a3ce-fa2f34c7be74	g.chr11:6048918G>C	ENST00000316650.5	-	1	53	c.17C>G	c.(16-18)gCg>gGg	p.A6G		NM_001001917.2	NP_001001917.2	Q8NGH5	O56A1_HUMAN	olfactory receptor, family 56, subfamily A, member 1	6						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A6V(1)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(22)|ovary(2)	33		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GCTGGGTGACGCCATAGGCTG	0.488																																						ENST00000316650.5																			1	Substitution - Missense(1)	p.A6V(1)	large_intestine(1)	breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(22)|ovary(2)	33						c.(16-18)gCg>gGg		olfactory receptor, family 56, subfamily A, member 1							118	120	119					11																	6048918		2201	4296	6497	SO:0001583	missense	120796				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:6048918G>C	AB065821	CCDS31405.1	11p15.4	2012-08-09			ENSG00000180934	ENSG00000180934		"GPCR / Class A : Olfactory receptors"	14781	protein-coding gene	gene with protein product							Standard	NM_001001917		Approved		uc010qzw.2	Q8NGH5	OTTHUMG00000165377	ENST00000316650.5:c.17C>G	11.37:g.6048918G>C	ENSP00000321246:p.Ala6Gly						p.A6G	NM_001001917.2	NP_001001917.2	Q8NGH5	O56A1_HUMAN		Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	53	-		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)	6					B2RNI2|Q6IFL0	Missense_Mutation	SNP	ENST00000316650.5	37	c.17C>G	CCDS31405.1	.	.	.	.	.	.	.	.	.	.	G	9.379	1.072388	0.20147	.	.	ENSG00000180934	ENST00000316650	T	0.37584	1.19	3.55	0.362	0.16113	.	0.859973	0.09626	U	0.776893	T	0.17789	0.0427	N	0.08118	0	0.09310	N	1	B	0.12630	0.006	B	0.14023	0.01	T	0.23404	-1.0189	10	0.66056	D	0.02	.	4.9723	0.14123	0.1055:0.0:0.5266:0.368	.	6	Q8NGH5	O56A1_HUMAN	G	6	ENSP00000321246:A6G	ENSP00000321246:A6G	A	-	2	0	OR56A1	6005494	0.000000	0.05858	0.006000	0.13384	0.237000	0.25408	0.092000	0.15066	-0.023000	0.13963	0.563000	0.77884	GCG		0.488	OR56A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383757.1	NM_001001917		31	65	0	0	0	1	0	31	65					C	6048918	G	C	6048918	3	2	87	1	0	0	0	0	1	0	0	0	11133	1087	38	5	943	5	OR56A1	11	6048918	Missense_Mutation	SNP	G	TCGA-EJ-7321-01A-31D-2260-08	5149534	6048918	128957598	34	4505											
OR5D18	219438	broad.mit.edu	37	chr11	55587340	55587340	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tctgctattcctccatcattGctcccaagatgttggtgaac	8	14	7	12	0	2	2	1	1	1	1	5	2	5	2	3	1	3	3	3	1	3	4	rs142474714		TCGA-EJ-7321-01A-31D-2260-08	TCGA-EJ-7321-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaf38195-2e17-457f-bb4c-a8a44fc5e877	7132d9c7-5196-48c8-a3ce-fa2f34c7be74	g.chr11:55587340G>A	ENST00000333976.4	+	1	255	c.235G>A	c.(235-237)Gct>Act	p.A79T		NM_001001952.1	NP_001001952.1	Q8NGL1	OR5DI_HUMAN	olfactory receptor, family 5, subfamily D, member 18	79						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A79S(1)		NS(2)|breast(1)|endometrium(3)|large_intestine(6)|lung(33)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		all_epithelial(135;0.208)				CTCCATCATTGCTCCCAAGAT	0.408																																						ENST00000333976.4																			1	Substitution - Missense(1)	p.A79S(1)	lung(1)	NS(2)|breast(1)|endometrium(3)|large_intestine(6)|lung(33)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						c.(235-237)Gct>Act		olfactory receptor, family 5, subfamily D, member 18							242	232	235					11																	55587340		2200	4296	6496	SO:0001583	missense	219438				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55587340G>A	AB065781	CCDS31510.1	11q11	2012-08-09			ENSG00000186119	ENSG00000186119		"GPCR / Class A : Olfactory receptors"	15285	protein-coding gene	gene with protein product							Standard	NM_001001952		Approved		uc010rin.2	Q8NGL1	OTTHUMG00000166811	ENST00000333976.4:c.235G>A	11.37:g.55587340G>A	ENSP00000335025:p.Ala79Thr						p.A79T	NM_001001952.1	NP_001001952.1	Q8NGL1	OR5DI_HUMAN			1	255	+		all_epithelial(135;0.208)	79					Q6IF67|Q6IFD3|Q96RB3	Missense_Mutation	SNP	ENST00000333976.4	37	c.235G>A	CCDS31510.1	.	.	.	.	.	.	.	.	.	.	.	1.279	-0.610959	0.03690	.	.	ENSG00000186119	ENST00000333976	T	0.01197	5.19	4.94	3.0	0.34707	GPCR, rhodopsin-like superfamily (1);	0.620209	0.13471	N	0.385440	T	0.00524	0.0017	N	0.01817	-0.705	0.09310	N	0.999998	B	0.06786	0.001	B	0.10450	0.005	T	0.43327	-0.9398	10	0.02654	T	1	-8.9258	7.9752	0.30151	0.257:0.0:0.743:0.0	.	79	Q8NGL1	OR5DI_HUMAN	T	79	ENSP00000335025:A79T	ENSP00000335025:A79T	A	+	1	0	OR5D18	55343916	0.000000	0.05858	0.856000	0.33681	0.834000	0.47266	-0.625000	0.05534	1.232000	0.43678	0.632000	0.83419	GCT		0.408	OR5D18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391515.1	NM_001001952		17	218	0	0	0	1	0	17	218					A	55587340	G	A	55587340	3	1	87	1	0	0	0	0	1	0	0	0	11157	1319	46	3	237	3	OR5D18	11	55587340	Missense_Mutation	SNP	G	TCGA-EJ-7321-01A-31D-2260-08	49538422	55587340	79419176	35	4506											
ZP1	22917	broad.mit.edu	37	chr11	60640728	60640728	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgctcctatgacccagccCggccccctgcggcttgagct	4	8	10	19	2	0	2	0	2	0	0	1	2	1	2	6	2	4	3	6	2	1	2	rs151198562		TCGA-EJ-7321-01A-31D-2260-08	TCGA-EJ-7321-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaf38195-2e17-457f-bb4c-a8a44fc5e877	7132d9c7-5196-48c8-a3ce-fa2f34c7be74	g.chr11:60640728C>T	ENST00000278853.5	+	7	1206	c.1206C>T	c.(1204-1206)ccC>ccT	p.P402P		NM_207341.2	NP_997224.2	P60852	ZP1_HUMAN	zona pellucida glycoprotein 1 (sperm receptor)	402	ZP. {ECO:0000255|PROSITE- ProRule:PRU00375}.				binding of sperm to zona pellucida (GO:0007339)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)	extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)|secretory granule (GO:0030141)		p.P402P(1)		breast(3)|endometrium(2)|large_intestine(8)|lung(8)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	26						TGACCCAGCCCGGCCCCCTGC	0.602																																						ENST00000278853.5																			1	Substitution - coding silent(1)	p.P402P(1)	large_intestine(1)	breast(3)|endometrium(2)|large_intestine(8)|lung(8)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	26						c.(1204-1206)ccC>ccT		zona pellucida glycoprotein 1 (sperm receptor)																																				SO:0001819	synonymous_variant	22917				single fertilization	integral to membrane|plasma membrane|proteinaceous extracellular matrix		g.chr11:60640728C>T	BC067899	CCDS31572.1	11q12.2	2013-01-17			ENSG00000149506	ENSG00000149506		"Zona pellucida glycoproteins"	13187	protein-coding gene	gene with protein product		195000				10542331	Standard	NM_207341		Approved		uc001nqd.3	P60852	OTTHUMG00000167797	ENST00000278853.5:c.1206C>T	11.37:g.60640728C>T							p.P402P	NM_207341.2	NP_997224.2	P60852	ZP1_HUMAN			7	1206	+			402			ZP.			Silent	SNP	ENST00000278853.5	37	c.1206C>T	CCDS31572.1																																																																																				0.602	ZP1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396329.1	NM_207341		33	184	0	0	0	1	0	33	184					T	60640728	C	T	60640728	2	4	87	1	0	0	0	0	0	0	0	1	18212	639	23	2		2	ZP1	11	60640728	Silent	SNP	C	TCGA-EJ-7321-01A-31D-2260-08	5053388	60640728	74365788	36	4507											
NDUFV1	4723	broad.mit.edu	37	chr11	67375932	67375932	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cggattttcaccaacctgtaCggccgccatgactggaggtg	8	9	12	12	3	1	1	1	1	0	0	1	3	1	3	4	4	2	1	4	4	2	3	rs200863549	byFrequency	TCGA-EJ-7321-01A-31D-2260-08	TCGA-EJ-7321-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaf38195-2e17-457f-bb4c-a8a44fc5e877	7132d9c7-5196-48c8-a3ce-fa2f34c7be74	g.chr11:67375932C>T	ENST00000322776.6	+	2	291	c.138C>T	c.(136-138)taC>taT	p.Y46Y	RP11-655M14.12_ENST00000533876.1_RNA|NDUFV1_ENST00000529927.1_Silent_p.Y37Y|C11orf72_ENST00000446232.1_5'Flank|NDUFV1_ENST00000532303.1_Intron|NDUFV1_ENST00000415352.2_Silent_p.Y39Y|C11orf72_ENST00000333139.3_5'Flank	NM_001166102.1|NM_007103.3	NP_001159574.1|NP_009034.2	P49821	NDUV1_HUMAN	NADH dehydrogenase (ubiquinone) flavoprotein 1, 51kDa	46					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)	4 iron, 4 sulfur cluster binding (GO:0051539)|FMN binding (GO:0010181)|metal ion binding (GO:0046872)|NAD binding (GO:0051287)|NADH dehydrogenase (ubiquinone) activity (GO:0008137)			breast(1)|endometrium(3)|large_intestine(2)|lung(7)|prostate(1)|skin(2)	16						CCAACCTGTACGGCCGCCATG	0.552													C|||	2	0.000399361	0	0	5008	,	,		15934	0.001		0	False		,,,				2504	0.001					ENST00000322776.6																			0				breast(1)|endometrium(3)|large_intestine(2)|lung(7)|prostate(1)|skin(2)	16						c.(136-138)taC>taT		NADH dehydrogenase (ubiquinone) flavoprotein 1, 51kDa	NADH(DB00157)						152	156	155					11																	67375932		2200	4295	6495	SO:0001819	synonymous_variant	4723				mitochondrial electron transport, NADH to ubiquinone|transport	mitochondrial respiratory chain complex I	4 iron, 4 sulfur cluster binding|FMN binding|metal ion binding|NAD binding|NADH dehydrogenase (ubiquinone) activity	g.chr11:67375932C>T	AF092131	CCDS8173.1, CCDS53669.1	11q13	2011-07-04	2002-08-29		ENSG00000167792	ENSG00000167792	1.6.5.3	"Mitochondrial respiratory chain complex / Complex I"	7716	protein-coding gene	gene with protein product	"complex I 51kDa subunit", "NADH dehydrogenase [ubiquinone] flavoprotein 1, mitochondrial"	161015	"NADH dehydrogenase (ubiquinone) flavoprotein 1 (51kD)"			1478657	Standard	NM_007103		Approved	CI-51K	uc001omj.2	P49821	OTTHUMG00000166215	ENST00000322776.6:c.138C>T	11.37:g.67375932C>T						NDUFV1_ENST00000532303.1_Intron|NDUFV1_ENST00000415352.2_Silent_p.Y39Y|NDUFV1_ENST00000529927.1_Silent_p.Y37Y	p.Y46Y	NM_001166102.1|NM_007103.3	NP_001159574.1|NP_009034.2	P49821	NDUV1_HUMAN			2	291	+			46					O60924|O60940|Q16104|Q6IBR3|Q96BF8|Q96HS7	Silent	SNP	ENST00000322776.6	37	c.138C>T	CCDS8173.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	9.909	1.209021	0.22205	.	.	ENSG00000167792	ENST00000530638	T	0.77098	-1.07	4.77	-3.33	0.04958	.	.	.	.	.	T	0.79879	0.4522	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.78743	-0.2085	6	0.59425	D	0.04	-13.7812	10.9999	0.47600	0.0:0.3972:0.0:0.6028	.	.	.	.	M	10	ENSP00000436936:T10M	ENSP00000436936:T10M	T	+	2	0	NDUFV1	67132508	0.945000	0.32115	0.988000	0.46212	0.755000	0.42902	0.008000	0.13197	-0.477000	0.06832	-1.480000	0.00990	ACG		0.552	NDUFV1-001	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388406.1	NM_007103		4	227	0	0	0	1	0	4	227					T	67375932	C	T	67375932	2	4	87	1	0	0	0	0	0	0	0	1	10299	547	19	1		1	NDUFV1	11	67375932	Silent	SNP	C	TCGA-EJ-7321-01A-31D-2260-08	6735204	67375932	67630584	37	4508											
DHCR7	1717	broad.mit.edu	37	chr11	71153385	71153385	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggcagaagtcagggagagaCgtgtacagaagcacctgaaa	15	5	14	7	1	1	4	1	1	0	3	1	6	1	5	1	2	2	3	1	2	4	1			TCGA-EJ-7321-01A-31D-2260-08	TCGA-EJ-7321-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaf38195-2e17-457f-bb4c-a8a44fc5e877	7132d9c7-5196-48c8-a3ce-fa2f34c7be74	g.chr11:71153385C>A	ENST00000355527.3	-	5	612	c.336G>T	c.(334-336)acG>acT	p.T112T	DHCR7_ENST00000407721.2_Silent_p.T112T	NM_001163817.1|NM_001360.2	NP_001157289.1|NP_001351.2	Q9UBM7	DHCR7_HUMAN	7-dehydrocholesterol reductase	112					blood vessel development (GO:0001568)|cell differentiation (GO:0030154)|cholesterol biosynthetic process (GO:0006695)|lung development (GO:0030324)|multicellular organism growth (GO:0035264)|post-embryonic development (GO:0009791)|regulation of cell proliferation (GO:0042127)|regulation of cholesterol biosynthetic process (GO:0045540)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear outer membrane (GO:0005640)	7-dehydrocholesterol reductase activity (GO:0047598)			endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(1)|skin(1)	19						CAGGGAGAGACGTGTACAGAA	0.587									Smith-Lemli-Opitz syndrome																													ENST00000355527.3																			0				endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(1)|skin(1)	19						c.(334-336)acG>acT		7-dehydrocholesterol reductase	NADH(DB00157)						90	81	84					11																	71153385		2200	4294	6494	SO:0001819	synonymous_variant	1717	Smith-Lemli-Opitz syndrome	Familial Cancer Database	SLOS type I & II	cholesterol biosynthetic process	endoplasmic reticulum membrane|integral to membrane|nuclear outer membrane	7-dehydrocholesterol reductase activity|protein binding	g.chr11:71153385C>A	AF034544	CCDS8200.1	11q13.4	2014-09-17	2004-02-13				1.3.1.21		2860	protein-coding gene	gene with protein product		602858	"Smith-Lemli-Opitz syndrome"	SLOS		9465114, 9634533	Standard	NM_001360		Approved		uc001oql.3	Q9UBM7		ENST00000355527.3:c.336G>T	11.37:g.71153385C>A						DHCR7_ENST00000407721.2_Silent_p.T112T	p.T112T	NM_001163817.1|NM_001360.2	NP_001157289.1|NP_001351.2	Q9UBM7	DHCR7_HUMAN			5	612	-			112					B2R6Z2|O60492|O60717	Silent	SNP	ENST00000355527.3	37	c.336G>T	CCDS8200.1																																																																																				0.587	DHCR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394243.1	NM_001360		5	25	1	0	0.0381472	1	0.0386492	5	25					A	71153385	C	A	71153385	2	1	87	1	0	0	0	0	0	0	0	1	4477	523	19	5		5	DHCR7	11	71153385	Silent	SNP	C	TCGA-EJ-7321-01A-31D-2260-08	3777453	71153385	63853131	38	4509											
SCN2B	6327	broad.mit.edu	37	chr11	118039353	118039353	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agtccagttcagggagaactGtttgtggttcactgtgtagc	8	13	13	7	0	2	1	2	0	0	1	3	2	3	1	1	2	2	4	1	2	2	4			TCGA-EJ-7321-01A-31D-2260-08	TCGA-EJ-7321-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaf38195-2e17-457f-bb4c-a8a44fc5e877	7132d9c7-5196-48c8-a3ce-fa2f34c7be74	g.chr11:118039353G>A	ENST00000278947.5	-	2	425	c.184C>T	c.(184-186)Cag>Tag	p.Q62*		NM_004588.4	NP_004579.1	O60939	SCN2B_HUMAN	sodium channel, voltage-gated, type II, beta subunit	62	Ig-like C2-type.				cardiac muscle cell action potential involved in contraction (GO:0086002)|cardiac muscle contraction (GO:0060048)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|nervous system development (GO:0007399)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of sodium ion transmembrane transporter activity (GO:2000649)|response to pyrethroid (GO:0046684)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	voltage-gated sodium channel complex (GO:0001518)	sodium channel regulator activity (GO:0017080)|voltage-gated sodium channel activity involved in cardiac muscle cell action potential (GO:0086006)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)	7	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.19e-05)|Epithelial(105;0.00117)	Valproic Acid(DB00313)|Zonisamide(DB00909)	AGGGAGAACTGTTTGTGGTTC	0.592																																						ENST00000278947.5																			0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)	7						c.(184-186)Cag>Tag		sodium channel, voltage-gated, type II, beta subunit							234	219	224					11																	118039353		2200	4296	6496	SO:0001587	stop_gained	6327				synaptic transmission	voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr11:118039353G>A	AY358945	CCDS8390.1	11q23.3	2013-09-19	2012-02-28		ENSG00000149575	ENSG00000149575		"Sodium channels", "Voltage-gated ion channels / Sodium channels", "Immunoglobulin superfamily / V-set domain containing"	10589	protein-coding gene	gene with protein product		601327	"sodium channel, voltage-gated, type II, beta polypeptide", "sodium channel, voltage-gated, type II, beta"			10198179	Standard	NM_004588		Approved		uc001psf.2	O60939	OTTHUMG00000048248	ENST00000278947.5:c.184C>T	11.37:g.118039353G>A	ENSP00000278947:p.Gln62*						p.Q62*	NM_004588.4	NP_004579.1	O60939	SCN2B_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.19e-05)|Epithelial(105;0.00117)	2	425	-	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)	62			Ig-like C2-type.		O75302|Q9UNN3	Nonsense_Mutation	SNP	ENST00000278947.5	37	c.184C>T	CCDS8390.1	.	.	.	.	.	.	.	.	.	.	G	37	6.084050	0.97267	.	.	ENSG00000149575	ENST00000278947	.	.	.	4.83	4.83	0.62350	.	0.347798	0.30630	N	0.009211	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.23891	T	0.37	-13.0014	16.8651	0.86027	0.0:0.0:1.0:0.0	.	.	.	.	X	62	.	ENSP00000278947:Q62X	Q	-	1	0	SCN2B	117544563	1.000000	0.71417	0.997000	0.53966	0.994000	0.84299	3.635000	0.54309	2.486000	0.83907	0.655000	0.94253	CAG		0.592	SCN2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109748.2	NM_004588		7	348	0	0	0	1	0	7	348					A	118039353	G	A	118039353	4	1	87	1	0	0	0	0	0	1	0	0	13917	1386	48	3	475	3	SCN2B	11	118039353	Nonsense_Mutation	SNP	G	TCGA-EJ-7321-01A-31D-2260-08	46885968	118039353	16967163	39	4510											
ADAMTS15	170689	broad.mit.edu	37	chr11	130343428	130343428	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gggccgtgctccgcgagctgCggcagtggcctgcagaagcg	5	5	18	13	5	0	1	0	0	0	1	1	2	1	1	3	3	5	4	3	3	1	0			TCGA-EJ-7321-01A-31D-2260-08	TCGA-EJ-7321-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaf38195-2e17-457f-bb4c-a8a44fc5e877	7132d9c7-5196-48c8-a3ce-fa2f34c7be74	g.chr11:130343428C>T	ENST00000299164.2	+	8	2565	c.2565C>T	c.(2563-2565)tgC>tgT	p.C855C		NM_139055.2	NP_620686.1	Q8TE58	ATS15_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 15	855	TSP type-1 2. {ECO:0000255|PROSITE- ProRule:PRU00210}.					proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(16)|pancreas(1)|prostate(1)|skin(8)|urinary_tract(1)	36	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0631)|Lung(977;0.215)		CCGCGAGCTGCGGCAGTGGCC	0.721																																						ENST00000299164.2																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(16)|pancreas(1)|prostate(1)|skin(8)|urinary_tract(1)	36						c.(2563-2565)tgC>tgT		ADAM metallopeptidase with thrombospondin type 1 motif, 15							17	22	20					11																	130343428		2106	4148	6254	SO:0001819	synonymous_variant	170689				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr11:130343428C>T	AJ315733	CCDS8488.1	11q25	2008-02-01	2005-08-19		ENSG00000166106	ENSG00000166106		"ADAM metallopeptidases with thrombospondin type 1 motif"	16305	protein-coding gene	gene with protein product		607509	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 15"			11867212	Standard	NM_139055		Approved		uc010scd.2	Q8TE58	OTTHUMG00000165657	ENST00000299164.2:c.2565C>T	11.37:g.130343428C>T							p.C855C	NM_139055.2	NP_620686.1	Q8TE58	ATS15_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.0631)|Lung(977;0.215)	8	2565	+	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)	855			TSP type-1 2.		Q32MI6	Silent	SNP	ENST00000299164.2	37	c.2565C>T	CCDS8488.1																																																																																				0.721	ADAMTS15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385638.1	NM_139055		17	26	0	0	0	1	0	17	26					T	130343428	C	T	130343428	2	4	87	1	0	0	0	0	0	0	0	1	260	776	27	1		1	ADAMTS15	11	130343428	Silent	SNP	C	TCGA-EJ-7321-01A-31D-2260-08	12304075	130343428	4663088	40	4511											
FREM2	341640	broad.mit.edu	37	chr13	39357215	39357215	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttctctctagagccaactGtgtttattccccagtccaaa	9	15	5	12	0	2	1	0	0	2	1	5	1	4	1	4	0	2	1	4	0	4	6			TCGA-EJ-7321-01A-31D-2260-08	TCGA-EJ-7321-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaf38195-2e17-457f-bb4c-a8a44fc5e877	7132d9c7-5196-48c8-a3ce-fa2f34c7be74	g.chr13:39357215G>T	ENST00000280481.7	+	5	5866	c.5650G>T	c.(5650-5652)Gtg>Ttg	p.V1884L		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	1884	Calx-beta 2.				cell communication (GO:0007154)|homophilic cell adhesion (GO:0007156)|inner ear development (GO:0048839)|morphogenesis of an epithelium (GO:0002009)	basement membrane (GO:0005604)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		AGAGCCAACTGTGTTTATTCC	0.408																																						ENST00000280481.7																			0				NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148						c.(5650-5652)Gtg>Ttg		FRAS1 related extracellular matrix protein 2							195	193	194					13																	39357215		2203	4300	6503	SO:0001583	missense	341640				cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr13:39357215G>T	BX538150	CCDS31960.1	13q13.3	2004-12-15			ENSG00000150893	ENSG00000150893			25396	protein-coding gene	gene with protein product		608945				15345741	Standard	NM_207361		Approved	DKFZp686J0811	uc001uwv.3	Q5SZK8	OTTHUMG00000016759	ENST00000280481.7:c.5650G>T	13.37:g.39357215G>T	ENSP00000280481:p.Val1884Leu						p.V1884L	NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)	5	5866	+		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)	1884			Calx-beta 2.		Q4QQG1|Q5H9N8|Q5T6Q1|Q6N057|Q6ZSB4|Q7Z305|Q7Z341	Missense_Mutation	SNP	ENST00000280481.7	37	c.5650G>T	CCDS31960.1	.	.	.	.	.	.	.	.	.	.	G	15.79	2.938710	0.52972	.	.	ENSG00000150893	ENST00000280481	T	0.34472	1.36	5.98	5.98	0.97165	Na-Ca exchanger/integrin-beta4 (2);	0.000000	0.85682	D	0.000000	T	0.62624	0.2443	M	0.76002	2.32	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.54689	-0.8256	10	0.30078	T	0.28	.	20.4464	0.99123	0.0:0.0:1.0:0.0	.	1884	Q5SZK8	FREM2_HUMAN	L	1884	ENSP00000280481:V1884L	ENSP00000280481:V1884L	V	+	1	0	FREM2	38255215	1.000000	0.71417	0.947000	0.38551	0.206000	0.24218	9.869000	0.99810	2.838000	0.97847	0.514000	0.50259	GTG		0.408	FREM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044599.2	NM_207361		4	120	1	0	0.00024832	1	0.000273152	4	120					T	39357215	G	T	39357215	3	4	87	1	0	0	0	0	1	0	0	0	6045	1377	48	5	5668	5	FREM2	13	39357215	Missense_Mutation	SNP	G	TCGA-EJ-7321-01A-31D-2260-08		39357215	75812663	41	4512											
OLFM4	10562	broad.mit.edu	37	chr13	53624777	53624777	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggaaagagggcaaactagaCattgtaatgcataagatgca	17	7	12	5	0	0	3	0	0	0	3	0	4	0	4	0	2	3	4	0	2	5	4			TCGA-EJ-7321-01A-31D-2260-08	TCGA-EJ-7321-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaf38195-2e17-457f-bb4c-a8a44fc5e877	7132d9c7-5196-48c8-a3ce-fa2f34c7be74	g.chr13:53624777C>G	ENST00000219022.2	+	5	1482	c.1404C>G	c.(1402-1404)gaC>gaG	p.D468E		NM_006418.4	NP_006409.3	Q6UX06	OLFM4_HUMAN	olfactomedin 4	468	Olfactomedin-like. {ECO:0000255|PROSITE- ProRule:PRU00446}.				cell adhesion (GO:0007155)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of immune response (GO:0050777)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|protein homooligomerization (GO:0051260)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|specific granule (GO:0042581)	cadherin binding (GO:0045296)|catalytic activity (GO:0003824)|protein homodimerization activity (GO:0042803)			breast(2)|endometrium(4)|kidney(4)|large_intestine(5)|lung(20)|skin(3)|urinary_tract(1)	39		Breast(56;0.000776)|Lung NSC(96;0.000814)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;3.13e-08)		GCAAACTAGACATTGTAATGC	0.383																																						ENST00000219022.2																			0				breast(2)|endometrium(4)|kidney(4)|large_intestine(5)|lung(20)|skin(3)|urinary_tract(1)	39						c.(1402-1404)gaC>gaG		olfactomedin 4							114	112	112					13																	53624777		2203	4300	6503	SO:0001583	missense	10562				cell adhesion	extracellular space		g.chr13:53624777C>G	AY358567	CCDS9440.1	13q14	2004-06-25			ENSG00000102837	ENSG00000102837			17190	protein-coding gene	gene with protein product		614061					Standard	NM_006418		Approved	OlfD, GW112, GC1	uc001vhl.3	Q6UX06	OTTHUMG00000016981	ENST00000219022.2:c.1404C>G	13.37:g.53624777C>G	ENSP00000219022:p.Asp468Glu						p.D468E	NM_006418.4	NP_006409.3	Q6UX06	OLFM4_HUMAN		GBM - Glioblastoma multiforme(99;3.13e-08)	5	1482	+		Breast(56;0.000776)|Lung NSC(96;0.000814)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)	468			Olfactomedin-like.		O95362|Q5VWG0|Q86T22	Missense_Mutation	SNP	ENST00000219022.2	37	c.1404C>G	CCDS9440.1	.	.	.	.	.	.	.	.	.	.	C	15.81	2.942955	0.53079	.	.	ENSG00000102837	ENST00000219022	D	0.88741	-2.42	5.64	0.888	0.19206	Olfactomedin-like (3);	2.241280	0.02182	N	0.060531	T	0.81163	0.4765	N	0.25992	0.78	0.09310	N	0.999997	B	0.06786	0.001	B	0.15052	0.012	T	0.63116	-0.6709	10	0.31617	T	0.26	.	2.5717	0.04796	0.1175:0.4777:0.129:0.2758	.	468	Q6UX06	OLFM4_HUMAN	E	468	ENSP00000219022:D468E	ENSP00000219022:D468E	D	+	3	2	OLFM4	52522778	0.000000	0.05858	0.008000	0.14137	0.742000	0.42306	-0.451000	0.06795	0.044000	0.15775	0.585000	0.79938	GAC		0.383	OLFM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045112.2	NM_006418		21	33	0	0	0	1	0	21	33					G	53624777	C	G	53624777	3	3	87	1	0	0	0	0	1	0	0	0	10855	477	17	5	1422	5	OLFM4	13	53624777	Missense_Mutation	SNP	C	TCGA-EJ-7321-01A-31D-2260-08	14267562	53624777	61545101	42	4513											
SERPINA6	866	broad.mit.edu	37	chr14	94776106	94776106	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcggaccacctgttaatcGtgtcccggctcagtgcagcg	6	9	12	14	4	1	0	1	0	0	0	3	1	2	1	3	2	3	3	3	2	1	1			TCGA-EJ-7321-01A-31D-2260-08	TCGA-EJ-7321-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaf38195-2e17-457f-bb4c-a8a44fc5e877	7132d9c7-5196-48c8-a3ce-fa2f34c7be74	g.chr14:94776106G>A	ENST00000341584.3	-	3	997	c.851C>T	c.(850-852)aCg>aTg	p.T284M		NM_001756.3	NP_001747	P08185	CBG_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 6	284					glucocorticoid metabolic process (GO:0008211)|negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)|transport (GO:0006810)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase inhibitor activity (GO:0004867)|steroid binding (GO:0005496)			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(11)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	26		all_cancers(154;0.0482)|all_epithelial(191;0.166)		COAD - Colon adenocarcinoma(157;0.211)	Alclometasone(DB00240)|Beclomethasone(DB00394)|Ciclesonide(DB01410)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Halobetasol Propionate(DB00596)|Medrysone(DB00253)|Mitotane(DB00648)|Paramethasone(DB01384)|Prednisolone(DB00860)|Rimexolone(DB00896)|Triamcinolone(DB00620)	CCTGTTAATCGTGTCCCGGCT	0.552																																						ENST00000341584.3																			0				central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(11)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	26						c.(850-852)aCg>aTg		serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 6	Alclometasone(DB00240)|Beclomethasone(DB00394)|Ciclesonide(DB01410)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Halobetasol Propionate(DB00596)|Medrysone(DB00253)|Mitotane(DB00648)|Paramethasone(DB01384)|Prednisolone(DB00860)|Rimexolone(DB00896)|Triamcinolone(DB00620)						155	107	123					14																	94776106		2203	4300	6503	SO:0001583	missense	866				regulation of proteolysis|transport	extracellular space	serine-type endopeptidase inhibitor activity|steroid binding	g.chr14:94776106G>A	J02943	CCDS9924.1	14q32.13	2014-02-18	2005-08-18		ENSG00000170099	ENSG00000170099		"Serine (or cysteine) peptidase inhibitors"	1540	protein-coding gene	gene with protein product	"corticosteroid binding globulin", "transcortin"	122500	"serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 6"	CBG		3299377, 7912884, 24172014	Standard	NM_001756		Approved		uc001ycv.3	P08185	OTTHUMG00000171346	ENST00000341584.3:c.851C>T	14.37:g.94776106G>A	ENSP00000342850:p.Thr284Met						p.T284M	NM_001756.3	NP_001747.2	P08185	CBG_HUMAN		COAD - Colon adenocarcinoma(157;0.211)	3	997	-		all_cancers(154;0.0482)|all_epithelial(191;0.166)	284					A8K456|Q7Z2Q9	Missense_Mutation	SNP	ENST00000341584.3	37	c.851C>T	CCDS9924.1	.	.	.	.	.	.	.	.	.	.	G	12.86	2.065532	0.36470	.	.	ENSG00000170099	ENST00000341584	D	0.84660	-1.88	5.43	4.54	0.55810	Serpin domain (3);	0.297399	0.27613	N	0.018596	D	0.88629	0.6488	M	0.68593	2.085	0.33458	D	0.584598	D	0.71674	0.998	D	0.65323	0.934	D	0.88981	0.3408	10	0.27082	T	0.32	.	8.6564	0.34066	0.1408:0.1268:0.7324:0.0	.	284	P08185	CBG_HUMAN	M	284	ENSP00000342850:T284M	ENSP00000342850:T284M	T	-	2	0	SERPINA6	93845859	1.000000	0.71417	0.825000	0.32803	0.075000	0.17131	3.424000	0.52764	1.435000	0.47434	0.563000	0.77884	ACG		0.552	SERPINA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413065.1	NM_001756		5	145	0	0	0	1	0	5	145					A	94776106	G	A	94776106	3	1	87	1	0	0	0	0	1	0	0	0	14093	1145	40	1	378	1	SERPINA6	14	94776106	Missense_Mutation	SNP	G	TCGA-EJ-7321-01A-31D-2260-08		94776106	12573434	43	4514											
KCTD19	146212	broad.mit.edu	37	chr16	67337079	67337089	+	Frame_Shift_Del	DEL	CGATGAGGGCC	CGATGAGGGCC	-																															gaactcgctgcactcgcactCgatgagggccaccgtctcag																								rs187374294		TCGA-EJ-7321-01A-31D-2260-08	TCGA-EJ-7321-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaf38195-2e17-457f-bb4c-a8a44fc5e877	7132d9c7-5196-48c8-a3ce-fa2f34c7be74	g.chr16:67337079_67337089delCGATGAGGGCC	ENST00000304372.5	-	4	658_668	c.603_613delGGCCCTCATCG	c.(601-615)gtggccctcatcgagfs	p.ALIE202fs	KCTD19_ENST00000562860.1_5'UTR	NM_001100915.1	NP_001094385.1	Q17RG1	KCD19_HUMAN	potassium channel tetramerization domain containing 19	202					protein homooligomerization (GO:0051260)			p.A202T(1)		endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)	23		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0311)|Epithelial(162;0.0906)		CACTCGCACTCGATGAGGGCCACCGTCTCAG	0.607																																						ENST00000304372.5																			1	Substitution - Missense(1)	p.A202T(1)	endometrium(1)	endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)	23						c.(601-615)gtagfs		potassium channel tetramerization domain containing 19																																				SO:0001589	frameshift_variant	146212					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr16:67337079_67337089delCGATGAGGGCC	AK097481	CCDS42179.1	16q22.1	2013-06-20	2013-06-20			ENSG00000168676			24753	protein-coding gene	gene with protein product			"potassium channel tetramerisation domain containing 19"				Standard	NM_001100915		Approved	FLJ40162	uc002esu.2	Q17RG1		ENST00000304372.5:c.603_613delGGCCCTCATCG	16.37:g.67337079_67337089delCGATGAGGGCC	ENSP00000305702:p.Ala202fs					KCTD19_ENST00000562860.1_5'UTR	p.VALIE201fs	NM_001100915.1	NP_001094385.1	Q17RG1	KCD19_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0311)|Epithelial(162;0.0906)	4	658_668	-		Ovarian(137;0.192)	201					B4DZ49|Q8N804	Frame_Shift_Del	DEL	ENST00000304372.5	37	c.603_613delGGCCCTCATCG	CCDS42179.1																																																																																				0.607	KCTD19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422061.1	XM_085367		8	56						8	56	---	---	---	---	-	67337089	CGATGAGGGCC	-	67337079	7	5	87	1	0	1	0	1	0	0	0	0	8106	893	31	0	2219	0	KCTD19	16	67337079	Frame_Shift_Del	DEL	CGATGAGGGCC	TCGA-EJ-7321-01A-31D-2260-08		67337079	23017674	44	4515											
RLTPR	146206	broad.mit.edu	37	chr16	67685160	67685160	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ctgtggggctgggccccaggGtgaagccgctgtgcgccagg	4	6	19	12	2	0	1	0	1	0	0	0	1	0	1	4	5	2	2	4	5	1	0			TCGA-EJ-7321-01A-31D-2260-08	TCGA-EJ-7321-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaf38195-2e17-457f-bb4c-a8a44fc5e877	7132d9c7-5196-48c8-a3ce-fa2f34c7be74	g.chr16:67685160G>A	ENST00000334583.6	+	23	2583	c.2255G>A	c.(2254-2256)gGt>gAt	p.G752D	RLTPR_ENST00000545661.1_Missense_Mutation_p.G716D	NM_001013838.1	NP_001013860.1	Q6F5E8	LR16C_HUMAN	RGD motif, leucine rich repeats, tropomodulin domain and proline-rich containing	752					cell migration (GO:0016477)|establishment of protein localization (GO:0045184)|homeostasis of number of cells (GO:0048872)|maintenance of cell polarity (GO:0030011)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interferon-gamma secretion (GO:1902715)|positive regulation of interleukin-2 secretion (GO:1900042)|positive regulation of regulatory T cell differentiation (GO:0045591)|positive regulation of T cell proliferation (GO:0042102)|T cell receptor signaling pathway (GO:0050852)|thymus development (GO:0048538)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|F-actin capping protein complex (GO:0008290)|immunological synapse (GO:0001772)|membrane (GO:0016020)				breast(1)|cervix(1)|endometrium(4)|kidney(1)|lung(9)|urinary_tract(2)	18		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0146)|Epithelial(162;0.0481)|all cancers(182;0.232)		GGGCCCCAGGGTGAAGCCGCT	0.602																																						ENST00000334583.6																			0				breast(1)|cervix(1)|endometrium(4)|kidney(1)|lung(9)|urinary_tract(2)	18						c.(2254-2256)gGt>gAt		RGD motif, leucine rich repeats, tropomodulin domain and proline-rich containing							53	60	58					16																	67685160		2148	4257	6405	SO:0001583	missense	146206							g.chr16:67685160G>A	AB113647	CCDS45513.1	16q22.1	2010-09-10				ENSG00000159753			27089	protein-coding gene	gene with protein product	"RGD, leucine-rich repeat, tropomodulin and proline-rich containing protein", "leucine rich repeat containing 16C"	610859				15588584, 19846667	Standard	XM_005255807		Approved	LRRC16C, CARMIL2	uc002etn.3	Q6F5E8		ENST00000334583.6:c.2255G>A	16.37:g.67685160G>A	ENSP00000334958:p.Gly752Asp					RLTPR_ENST00000545661.1_Missense_Mutation_p.G716D	p.G752D	NM_001013838.1	NP_001013860.1	Q6F5E8	LR16C_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0146)|Epithelial(162;0.0481)|all cancers(182;0.232)	23	2583	+		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)	752					B8X2Z3	Missense_Mutation	SNP	ENST00000334583.6	37	c.2255G>A	CCDS45513.1	.	.	.	.	.	.	.	.	.	.	G	19.20	3.781927	0.70222	.	.	ENSG00000159753	ENST00000334583;ENST00000545661	T;T	0.13307	2.6;2.6	5.49	3.37	0.38596	.	0.241748	0.34314	N	0.004064	T	0.26048	0.0635	L	0.50333	1.59	0.36998	D	0.895126	D;D	0.71674	0.996;0.998	P;P	0.61874	0.806;0.895	T	0.10823	-1.0613	10	0.36615	T	0.2	-11.7808	12.8373	0.57780	0.0:0.3133:0.6867:0.0	.	716;752	B8X2Z3;Q6F5E8	.;LR16C_HUMAN	D	752;716	ENSP00000334958:G752D;ENSP00000441481:G716D	ENSP00000334958:G752D	G	+	2	0	RLTPR	66242661	0.998000	0.40836	1.000000	0.80357	0.833000	0.47200	0.452000	0.21795	1.282000	0.44496	0.563000	0.77884	GGT		0.602	RLTPR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000467858.1	NM_001013838		5	60	0	0	0	1	0	5	60					A	67685160	G	A	67685160	3	1	87	1	0	0	0	0	1	0	0	0	13394	1261	44	3	2345	3	RLTPR	16	67685160	Missense_Mutation	SNP	G	TCGA-EJ-7321-01A-31D-2260-08	348081	67685160	22669593	45	4516											
PRPF8	10594	broad.mit.edu	37	chr17	1563822	1563822	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcagcgtggggatcttgccGtgcatgaagatacccgtcag	8	10	13	10	3	3	2	2	1	1	1	3	3	3	3	2	2	4	1	2	2	2	3	rs148287873		TCGA-EJ-7321-01A-31D-2260-08	TCGA-EJ-7321-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaf38195-2e17-457f-bb4c-a8a44fc5e877	7132d9c7-5196-48c8-a3ce-fa2f34c7be74	g.chr17:1563822G>A	ENST00000572621.1	-	29	4954	c.4689C>T	c.(4687-4689)caC>caT	p.H1563H	PRPF8_ENST00000304992.6_Silent_p.H1563H			Q6P2Q9	PRP8_HUMAN	pre-mRNA processing factor 8	1563	Linker.				gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|U5 snRNP (GO:0005682)	poly(A) RNA binding (GO:0044822)|U5 snRNA binding (GO:0030623)|U6 snRNA binding (GO:0017070)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77				UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)		GGATCTTGCCGTGCATGAAGA	0.498													G|||	1	0.000199681	8e-04	0	5008	,	,		22986	0		0	False		,,,				2504	0					ENST00000572621.1																			0				NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77						c.(4687-4689)caC>caT		pre-mRNA processing factor 8		G		6,4400	11.4+/-27.6	0,6,2197	162	158	160		4689	-5.9	0.9	17	dbSNP_134	160	0,8600		0,0,4300	no	coding-synonymous	PRPF8	NM_006445.3		0,6,6497	AA,AG,GG		0.0,0.1362,0.0461		1563/2336	1563822	6,13000	2203	4300	6503	SO:0001819	synonymous_variant	10594					catalytic step 2 spliceosome|nuclear speck|U5 snRNP	protein binding|RNA binding	g.chr17:1563822G>A	AB007510	CCDS11010.1	17p13.3	2013-07-16	2013-06-10		ENSG00000174231	ENSG00000174231			17340	protein-coding gene	gene with protein product		607300	"PRP8 pre-mRNA processing factor 8 homolog (yeast)", "PRP8 pre-mRNA processing factor 8 homolog (S. cerevisiae)"	RP13		11468273, 10411133	Standard	NM_006445		Approved	PRPC8, Prp8, hPrp8, SNRNP220	uc002fte.3	Q6P2Q9	OTTHUMG00000090553	ENST00000572621.1:c.4689C>T	17.37:g.1563822G>A						PRPF8_ENST00000304992.6_Silent_p.H1563H	p.H1563H			Q6P2Q9	PRP8_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)	29	4954	-			1563					O14547|O75965	Silent	SNP	ENST00000572621.1	37	c.4689C>T	CCDS11010.1																																																																																				0.498	PRPF8-002	NOVEL	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438412.2			4	177	0	0	0	1	0	4	177					A	1563822	G	A	1563822	2	1	87	1	0	0	0	0	0	0	0	1	12575	1136	40	1		1	PRPF8	17	1563822	Silent	SNP	G	TCGA-EJ-7321-01A-31D-2260-08		1563822	79631388	46	4517											
ACCN1	40	broad.mit.edu	37	chr17	31355331	31355331	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cacagtcaatcctacaggcgGtgatgctgtaaacaggaaaa	15	7	10	9	1	1	1	1	1	0	0	2	2	2	2	1	3	3	2	1	3	6	2			TCGA-EJ-7321-01A-31D-2260-08	TCGA-EJ-7321-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaf38195-2e17-457f-bb4c-a8a44fc5e877	7132d9c7-5196-48c8-a3ce-fa2f34c7be74	g.chr17:31355331G>A	ENST00000359872.6	-	4	1675	c.914C>T	c.(913-915)aCc>aTc	p.T305I	ASIC2_ENST00000448983.1_5'UTR|ASIC2_ENST00000225823.2_Missense_Mutation_p.T356I	NM_001094.4	NP_001085.2	Q16515	ASIC2_HUMAN	acid-sensing (proton-gated) ion channel 2	305					central nervous system development (GO:0007417)|detection of mechanical stimulus involved in sensory perception (GO:0050974)|ion transmembrane transport (GO:0034220)|monovalent inorganic cation transport (GO:0015672)|negative regulation of apoptotic process (GO:0043066)|peripheral nervous system development (GO:0007422)|phototransduction (GO:0007602)|positive regulation of synapse assembly (GO:0051965)|protein localization to synapse (GO:0035418)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)|regulation of membrane potential (GO:0042391)|regulation of systemic arterial blood pressure by aortic arch baroreceptor feedback (GO:0003026)|regulation of vasoconstriction (GO:0019229)|response to acid chemical (GO:0001101)|response to acidic pH (GO:0010447)|sensory perception of sound (GO:0007605)|sensory perception of sour taste (GO:0050915)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|synapse (GO:0045202)	ion gated channel activity (GO:0022839)|ligand-gated sodium channel activity (GO:0015280)|voltage-gated sodium channel activity (GO:0005248)									Amiloride(DB00594)	CCTACAGGCGGTGATGCTGTA	0.582																																						ENST00000225823.2																			0											c.(1066-1068)aCc>aTc		acid-sensing (proton-gated) ion channel 2	Amiloride(DB00594)						70	68	68					17																	31355331		2203	4300	6503	SO:0001583	missense	40				central nervous system development|peripheral nervous system development|synaptic transmission	integral to plasma membrane	ligand-gated sodium channel activity|protein binding	g.chr17:31355331G>A	AL834182	CCDS11276.1, CCDS42296.1	17q11.2-q12	2012-02-23	2012-02-22	2012-02-22	ENSG00000108684	ENSG00000108684		"Ion channels / Acid-sensing (proton-gated) ion channels"	99	protein-coding gene	gene with protein product	"degenerin"	601784	"amiloride-sensitive cation channel 1, neuronal"	ACCN, ACCN1		8921408	Standard	NM_183377		Approved	ASIC2a, BNC1, BNaC1, hBNaC1, MDEG	uc002hhu.3	Q16515	OTTHUMG00000132885	ENST00000359872.6:c.914C>T	17.37:g.31355331G>A	ENSP00000352934:p.Thr305Ile					ASIC2_ENST00000359872.6_Missense_Mutation_p.T305I|ASIC2_ENST00000448983.1_5'UTR	p.T356I	NM_183377.1	NP_899233.1	Q16515	ACCN1_HUMAN			4	1939	-			305					E9PBX2|Q13553|Q6DJU1|Q8N3E2	Missense_Mutation	SNP	ENST00000359872.6	37	c.1067C>T	CCDS42296.1	.	.	.	.	.	.	.	.	.	.	G	31	5.102794	0.94245	.	.	ENSG00000108684	ENST00000225823;ENST00000359872;ENST00000448983	T;T	0.65178	-0.14;-0.14	5.56	5.56	0.83823	Na+ channel, amiloride-sensitive, conserved site (1);	0.172981	0.50627	D	0.000104	T	0.75250	0.3824	L	0.50919	1.6	0.51482	D	0.999924	D;P	0.76494	0.999;0.848	D;P	0.85130	0.997;0.848	T	0.76258	-0.3025	10	0.52906	T	0.07	-21.143	17.0263	0.86447	0.0:0.0:1.0:0.0	.	305;356	Q16515;E9PBX2	ACCN1_HUMAN;.	I	356;305;111	ENSP00000225823:T356I;ENSP00000352934:T305I	ENSP00000225823:T356I	T	-	2	0	ACCN1	28379444	1.000000	0.71417	1.000000	0.80357	0.921000	0.55340	7.892000	0.87324	2.112000	0.64535	0.482000	0.46254	ACC		0.582	ASIC2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447552.1	NM_183377, NM_001094		3	64	0	0	0	1	0	3	64					A	31355331	G	A	31355331	3	1	87	1	0	0	0	0	1	0	0	0	128	1261	44	3	652	3	ACCN1	17	31355331	Missense_Mutation	SNP	G	TCGA-EJ-7321-01A-31D-2260-08	29791509	31355331	49839879	47	4518											
ZNF652	22834	broad.mit.edu	37	chr17	47394309	47394309	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taacgttcatgtgcttctccAggtaccagcgagtgttaaat	10	13	9	9	2	2	0	1	0	1	0	3	1	2	0	2	1	4	4	2	1	4	5			TCGA-EJ-7321-01A-31D-2260-08	TCGA-EJ-7321-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaf38195-2e17-457f-bb4c-a8a44fc5e877	7132d9c7-5196-48c8-a3ce-fa2f34c7be74	g.chr17:47394309A>G	ENST00000362063.2	-	2	1097	c.779T>C	c.(778-780)cTg>cCg	p.L260P	ZNF652_ENST00000430262.2_Missense_Mutation_p.L260P	NM_014897.2	NP_055712.1	Q9Y2D9	ZN652_HUMAN	zinc finger protein 652	260					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	20	all_cancers(4;6.81e-14)|Breast(4;4.97e-29)|all_epithelial(4;1.53e-17)		BRCA - Breast invasive adenocarcinoma(1;3.1e-14)|Epithelial(5;2.92e-06)|all cancers(6;3.15e-05)			GTGCTTCTCCAGGTACCAGCG	0.478																																						ENST00000362063.2																			0				cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	20						c.(778-780)cTg>cCg		zinc finger protein 652							175	148	157					17																	47394309		2203	4300	6503	SO:0001583	missense	22834				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr17:47394309A>G	AB023141	CCDS32677.1	17q21.32	2013-01-08				ENSG00000198740		"Zinc fingers, C2H2-type"	29147	protein-coding gene	gene with protein product		613907				10231032	Standard	NM_014897		Approved	KIAA0924	uc002iow.3	Q9Y2D9		ENST00000362063.2:c.779T>C	17.37:g.47394309A>G	ENSP00000354686:p.Leu260Pro					ZNF652_ENST00000430262.2_Missense_Mutation_p.L260P	p.L260P	NM_014897.2	NP_055712.1	Q9Y2D9	ZN652_HUMAN	BRCA - Breast invasive adenocarcinoma(1;3.1e-14)|Epithelial(5;2.92e-06)|all cancers(6;3.15e-05)		2	1097	-	all_cancers(4;6.81e-14)|Breast(4;4.97e-29)|all_epithelial(4;1.53e-17)		260					A4QPD9|Q5H9Q0	Missense_Mutation	SNP	ENST00000362063.2	37	c.779T>C	CCDS32677.1	.	.	.	.	.	.	.	.	.	.	A	18.23	3.578130	0.65878	.	.	ENSG00000198740	ENST00000362063;ENST00000430262	T;T	0.75260	-0.92;-0.92	5.59	5.59	0.84812	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);	0.000000	0.85682	D	0.000000	D	0.88945	0.6575	M	0.91300	3.195	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.91406	0.5147	10	0.87932	D	0	-10.5087	15.4338	0.75125	1.0:0.0:0.0:0.0	.	260	Q9Y2D9	ZN652_HUMAN	P	260	ENSP00000354686:L260P;ENSP00000416305:L260P	ENSP00000354686:L260P	L	-	2	0	ZNF652	44749308	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.339000	0.96797	2.132000	0.65825	0.533000	0.62120	CTG		0.478	ZNF652-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364524.1	NM_014897		10	59	0	0	0	1	0	10	59					G	47394309	A	G	47394309	3	3	87	1	0	0	0	0	1	0	0	0	18062	188	7	4	1061	4	ZNF652	17	47394309	Missense_Mutation	SNP	A	TCGA-EJ-7321-01A-31D-2260-08	16038978	47394309	33800901	48	4519											
TJP3	27134	broad.mit.edu	37	chr19	3730081	3730081	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatggagaatgccacctccGcgtttgccattcagatactc	9	10	8	14	2	1	2	1	0	0	2	3	3	2	2	5	1	3	1	5	1	2	3	rs140801428	byFrequency	TCGA-EJ-7321-01A-31D-2260-08	TCGA-EJ-7321-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaf38195-2e17-457f-bb4c-a8a44fc5e877	7132d9c7-5196-48c8-a3ce-fa2f34c7be74	g.chr19:3730081G>A	ENST00000541714.2	+	4	676	c.214G>A	c.(214-216)Gcg>Acg	p.A72T	TJP3_ENST00000587686.1_Missense_Mutation_p.A91T|TJP3_ENST00000382008.3_Missense_Mutation_p.A72T|TJP3_ENST00000589378.1_Missense_Mutation_p.A81T|TJP3_ENST00000262968.9_Missense_Mutation_p.A91T|TJP3_ENST00000539908.2_Missense_Mutation_p.A36T	NM_001267560.1	NP_001254489.1	O95049	ZO3_HUMAN	tight junction protein 3	72	PDZ 1. {ECO:0000255|PROSITE- ProRule:PRU00143}.				regulation of G1/S transition of mitotic cell cycle (GO:2000045)	apical plasma membrane (GO:0016324)|nucleus (GO:0005634)|tight junction (GO:0005923)				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	26				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0118)|STAD - Stomach adenocarcinoma(1328;0.18)		TGCCACCTCCGCGTTTGCCAT	0.597																																						ENST00000541714.2																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	26						c.(214-216)Gcg>Acg		tight junction protein 3		G	THR/ALA	1,4405	2.1+/-5.4	0,1,2202	149	132	138		271	-4.5	0	19	dbSNP_134	138	4,8596	3.7+/-12.6	0,4,4296	yes	missense	TJP3	NM_014428.1	58	0,5,6498	AA,AG,GG		0.0465,0.0227,0.0384	benign	91/953	3730081	5,13001	2203	4300	6503	SO:0001583	missense	27134					tight junction	protein binding	g.chr19:3730081G>A	AC005954	CCDS32873.1, CCDS32873.2, CCDS59332.1	19p13.3	2012-07-12	2012-07-12			ENSG00000105289			11829	protein-coding gene	gene with protein product	"zona occludens 3"	612689					Standard	NM_001267560		Approved	ZO-3	uc010xhu.3	O95049		ENST00000541714.2:c.214G>A	19.37:g.3730081G>A	ENSP00000439278:p.Ala72Thr					TJP3_ENST00000589378.1_Missense_Mutation_p.A81T|TJP3_ENST00000382008.3_Missense_Mutation_p.A72T|TJP3_ENST00000587686.1_Missense_Mutation_p.A91T|TJP3_ENST00000262968.9_Missense_Mutation_p.A91T|TJP3_ENST00000539908.2_Missense_Mutation_p.A36T	p.A72T	NM_001267560.1	NP_001254489.1	O95049	ZO3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0118)|STAD - Stomach adenocarcinoma(1328;0.18)	4	676	+			72			PDZ 1.		A6NFP3|B3KR73|B3KXZ0|B4E2W6|F5H2X0|F5H4S9|K7EK22|Q32N01	Missense_Mutation	SNP	ENST00000541714.2	37	c.214G>A	CCDS32873.2	.	.	.	.	.	.	.	.	.	.	G	0.020	-1.440240	0.01098	2.27E-4	4.65E-4	ENSG00000105289	ENST00000541714;ENST00000539908;ENST00000382008;ENST00000262968	T;T;T;T	0.27402	1.67;1.67;1.67;1.67	3.67	-4.52	0.03472	PDZ/DHR/GLGF (4);	0.827328	0.10879	N	0.624020	T	0.12305	0.0299	N	0.10782	0.045	0.09310	N	1	B;B;B;B	0.10296	0.003;0.003;0.001;0.001	B;B;B;B	0.08055	0.002;0.002;0.003;0.001	T	0.19811	-1.0294	10	0.29301	T	0.29	.	5.593	0.17311	0.1645:0.0:0.3543:0.4812	.	91;91;72;72	O95049-3;O95049-2;O95049;F5H2X0	.;.;ZO3_HUMAN;.	T	72;36;72;91	ENSP00000439278:A72T;ENSP00000439991:A36T;ENSP00000371438:A72T;ENSP00000262968:A91T	ENSP00000262968:A91T	A	+	1	0	TJP3	3681081	0.000000	0.05858	0.002000	0.10522	0.023000	0.10783	-0.054000	0.11826	-1.340000	0.02227	-1.962000	0.00476	GCG		0.597	TJP3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000453434.1			6	148	0	0	0	1	0	6	148					A	3730081	G	A	3730081	3	1	87	1	0	0	0	0	1	0	0	0	15928	1087	38	1	281	1	TJP3	19	3730081	Missense_Mutation	SNP	G	TCGA-EJ-7321-01A-31D-2260-08		3730081	55398902	49	4520											
GPR108	56927	broad.mit.edu	37	chr19	6731293	6731293	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gaagtagacgtagcagatgaCctgcaggggcgcgagcaggc	11	4	17	9	3	0	3	0	1	0	2	0	5	0	3	1	3	3	5	1	3	3	2			TCGA-EJ-7321-01A-31D-2260-08	TCGA-EJ-7321-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaf38195-2e17-457f-bb4c-a8a44fc5e877	7132d9c7-5196-48c8-a3ce-fa2f34c7be74	g.chr19:6731293C>A	ENST00000264080.7	-	16	1377	c.1351G>T	c.(1351-1353)Gtc>Ttc	p.V451F	GPR108_ENST00000598626.1_5'UTR|GPR108_ENST00000430424.4_Splice_Site_p.V209F	NM_001080452.1	NP_001073921.1	Q9NPR9	GP108_HUMAN	G protein-coupled receptor 108	451						integral component of membrane (GO:0016021)				breast(2)|cervix(1)|large_intestine(4)|lung(4)|skin(1)|urinary_tract(1)	13						TAGCAGATGACCTGCAGGGGC	0.677																																						ENST00000264080.7																			0				breast(2)|cervix(1)|large_intestine(4)|lung(4)|skin(1)|urinary_tract(1)	13						c.e16-1		G protein-coupled receptor 108							36	41	39					19																	6731293		2166	4261	6427	SO:0001630	splice_region_variant	56927					integral to membrane		g.chr19:6731293C>A		CCDS42479.1	19p13.3	2014-01-30				ENSG00000125734		"GPCR / Unclassified : 7TM orphan receptors"	17829	protein-coding gene	gene with protein product							Standard	NM_001080452		Approved	LUSTR2	uc002mfp.3	Q9NPR9	OTTHUMG00000170129	ENST00000264080.7:c.1351-1G>T	19.37:g.6731293C>A						GPR108_ENST00000430424.4_Splice_Site_p.V209_splice|GPR108_ENST00000598626.1_5'UTR	p.V451_splice	NM_001080452.1	NP_001073921.1	Q9NPR9	GP108_HUMAN			16	1377	-			451					B9EJD7	Splice_Site	SNP	ENST00000264080.7	37	c.1350_splice	CCDS42479.1	.	.	.	.	.	.	.	.	.	.	C	13.80	2.344720	0.41498	.	.	ENSG00000125734	ENST00000548402;ENST00000264080;ENST00000430424	T	0.29142	1.58	3.79	-0.576	0.11731	.	0.438758	0.20536	U	0.090408	T	0.26195	0.0639	L	0.59436	1.845	0.40634	D	0.98188	B	0.27068	0.167	B	0.30572	0.117	T	0.06789	-1.0807	10	0.49607	T	0.09	-26.4156	6.2928	0.21069	0.0:0.329:0.0:0.671	.	451	Q9NPR9	GP108_HUMAN	F	43;451;209	ENSP00000264080:V451F	ENSP00000264080:V451F	V	-	1	0	GPR108	6682293	1.000000	0.71417	0.824000	0.32777	0.092000	0.18411	1.868000	0.39509	0.053000	0.16036	0.305000	0.20034	GTC		0.677	GPR108-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407508.2		Missense_Mutation	9	44	1	0	2.17888e-05	1	2.46726e-05	9	44					A	6731293	C	A	6731293	5	1	87	1	0	0	0	0	0	0	1	0	6624	521	18	5	292	5	GPR108	19	6731293	Splice_Site	SNP	C	TCGA-EJ-7321-01A-31D-2260-08	3001212	6731293	52397690	50	4521											
KIAA1543	57662	broad.mit.edu	37	chr19	7673045	7673045	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggaccgtgtggtggcgcgaCgtgccccctgcttcccgacg	4	7	15	15	6	0	0	0	0	0	0	1	3	1	1	4	3	2	1	4	3	0	1	rs199552187		TCGA-EJ-7321-01A-31D-2260-08	TCGA-EJ-7321-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaf38195-2e17-457f-bb4c-a8a44fc5e877	7132d9c7-5196-48c8-a3ce-fa2f34c7be74	g.chr19:7673045C>T	ENST00000160298.4	+	5	756	c.655C>T	c.(655-657)Cgt>Tgt	p.R219C	CAMSAP3_ENST00000446248.2_Missense_Mutation_p.R246C	NM_020902.1	NP_065953.1	Q9P1Y5	CAMP3_HUMAN	calmodulin regulated spectrin-associated protein family, member 3	219	CH.				epithelial cell-cell adhesion (GO:0090136)|microtubule anchoring (GO:0034453)|microtubule cytoskeleton organization (GO:0000226)|negative regulation of phosphatase activity (GO:0010923)|regulation of microtubule cytoskeleton organization (GO:0070507)|regulation of organelle organization (GO:0033043)|zonula adherens maintenance (GO:0045218)	cytoplasm (GO:0005737)|microtubule minus-end (GO:0036449)|zonula adherens (GO:0005915)	microtubule minus-end binding (GO:0051011)			cervix(1)|endometrium(7)|kidney(3)|lung(6)|urinary_tract(2)	19						GGTGGCGCGACGTGCCCCCTG	0.682																																						ENST00000446248.2																			0				cervix(1)|endometrium(7)|kidney(3)|lung(6)|urinary_tract(2)	19						c.(736-738)Cgt>Tgt		calmodulin regulated spectrin-associated protein family, member 3			CYS/ARG,CYS/ARG	1,4267		0,1,2133	44	52	49		736,655	1	0.1	19		49	0,8456		0,0,4228	yes	missense,missense	CAMSAP3	NM_001080429.2,NM_020902.1	180,180	0,1,6361	TT,TC,CC		0.0,0.0234,0.0079	probably-damaging,probably-damaging	246/1277,219/1250	7673045	1,12723	2134	4228	6362	SO:0001583	missense	57662				epithelial cell-cell adhesion|microtubule anchoring|regulation of microtubule cytoskeleton organization|zonula adherens maintenance	cytoplasm|microtubule|zonula adherens	microtubule minus-end binding	g.chr19:7673045C>T	AB040976	CCDS42489.1, CCDS45947.1	19p13.3-p13.2	2014-06-12	2011-08-18	2011-08-18		ENSG00000076826			29307	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 80"	612685	"KIAA1543"	KIAA1543		11318610, 10819331, 19041755, 19508979	Standard	NM_001080429		Approved	Nezha, PPP1R80	uc002mgu.4	Q9P1Y5		ENST00000160298.4:c.655C>T	19.37:g.7673045C>T	ENSP00000160298:p.Arg219Cys					CAMSAP3_ENST00000160298.4_Missense_Mutation_p.R219C	p.R246C	NM_001080429.2	NP_001073898.1	Q9P1Y5	CAMP3_HUMAN			7	837	+			219			CH.		Q8NDF1	Missense_Mutation	SNP	ENST00000160298.4	37	c.736C>T	CCDS42489.1	.	.	.	.	.	.	.	.	.	.	c	6.350	0.432743	0.12045	2.34E-4	0.0	ENSG00000076826	ENST00000446248;ENST00000160298	T;T	0.14893	2.47;2.48	4.89	1.02	0.19986	Calponin homology domain (1);	0.620920	0.16154	N	0.227129	T	0.12902	0.0313	L	0.40543	1.245	0.09310	N	0.999997	B;B	0.25521	0.128;0.067	B;B	0.17098	0.017;0.005	T	0.18745	-1.0327	10	0.51188	T	0.08	-9.44	8.9657	0.35874	0.2802:0.6376:0.0:0.0822	.	219;246	Q9P1Y5;Q9P1Y5-2	CAMP3_HUMAN;.	C	246;219	ENSP00000416797:R246C;ENSP00000160298:R219C	ENSP00000160298:R219C	R	+	1	0	KIAA1543	7579045	0.079000	0.21365	0.091000	0.20842	0.053000	0.15095	1.898000	0.39809	0.439000	0.26476	0.543000	0.68304	CGT		0.682	CAMSAP3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000459300.1	XM_048362		6	73	0	0	0	1	0	6	73					T	7673045	C	T	7673045	3	4	87	1	0	0	0	0	1	0	0	0	8243	536	19	1	762	1	KIAA1543	19	7673045	Missense_Mutation	SNP	C	TCGA-EJ-7321-01A-31D-2260-08	941752	7673045	51455938	51	4522											
CPAMD8	27151	broad.mit.edu	37	chr19	17081776	17081776	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aagcggggacagcctcatcgGtgtagaggccaccgtcctgc	8	6	14	13	3	1	1	1	0	0	1	3	2	2	2	4	4	3	1	4	4	2	1			TCGA-EJ-7321-01A-31D-2260-08	TCGA-EJ-7321-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaf38195-2e17-457f-bb4c-a8a44fc5e877	7132d9c7-5196-48c8-a3ce-fa2f34c7be74	g.chr19:17081776G>T	ENST00000443236.1	-	18	2310	c.2279C>A	c.(2278-2280)aCc>aAc	p.T760N	CPAMD8_ENST00000388925.4_Missense_Mutation_p.H502Q	NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain containing 8	713						extracellular space (GO:0005615)|plasma membrane (GO:0005886)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						AGCCTCATCGGTGTAGAGGCC	0.612																																						ENST00000443236.1																			0				breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						c.(2278-2280)aCc>aAc		C3 and PZP-like, alpha-2-macroglobulin domain containing 8							49	53	51					19																	17081776		2058	4180	6238	SO:0001583	missense	27151					extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity	g.chr19:17081776G>T	AY101765	CCDS42519.1	19p13.12	2008-02-05			ENSG00000160111	ENSG00000160111			23228	protein-coding gene	gene with protein product		608841				10574462	Standard	NM_015692		Approved	KIAA1283, VIP, K-CAP	uc002nfb.3	Q8IZJ3	OTTHUMG00000133549	ENST00000443236.1:c.2279C>A	19.37:g.17081776G>T	ENSP00000402505:p.Thr760Asn					CPAMD8_ENST00000388925.4_Missense_Mutation_p.H502Q	p.T760N	NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN			18	2310	-			713					Q8NC09|Q9ULD7	Missense_Mutation	SNP	ENST00000443236.1	37	c.2279C>A	CCDS42519.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	G|G|G	12.67|12.67|12.67	2.007460|2.007460|2.007460	0.35415|0.35415|0.35415	.|.|.	.|.|.	ENSG00000160111|ENSG00000160111|ENSG00000160111	ENST00000388925|ENST00000443236|ENST00000291440	T|.|.	0.52295|.|.	0.67|.|.	3.19|3.19|3.19	2.13|2.13|2.13	0.27403|0.27403|0.27403	.|.|.	.|.|0.084403	.|.|0.47093	.|.|U	.|.|0.000254	T|T|T	0.58977|0.58977|0.58977	0.2160|0.2160|0.2160	M|M|M	0.68317|0.68317|0.68317	2.08|2.08|2.08	0.27521|0.27521|0.27521	N|N|N	0.951409|0.951409|0.951409	.|.|D	.|.|0.76494	.|.|0.999	.|.|D	.|.|0.66084	.|.|0.941	T|T|T	0.52457|0.52457|0.52457	-0.8573|-0.8573|-0.8573	7|5|9	0.87932|.|0.26408	D|.|T	0|.|0.33	.|.|.	9.9884|9.9884|9.9884	0.41856|0.41856|0.41856	0.1035:0.0:0.8965:0.0|0.1035:0.0:0.8965:0.0|0.1035:0.0:0.8965:0.0	.|.|.	.|.|713	.|.|Q8IZJ3	.|.|CPMD8_HUMAN	Q|T|N	502|771|760	ENSP00000373577:H502Q|.|.	ENSP00000373577:H502Q|.|ENSP00000291440:T760N	H|P|T	-|-|-	3|1|2	2|0|0	CPAMD8|CPAMD8|CPAMD8	16942776|16942776|16942776	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	0.297000|0.297000|0.297000	0.24988|0.24988|0.24988	0.093000|0.093000|0.093000	0.18481|0.18481|0.18481	6.091000|6.091000|6.091000	0.71406|0.71406|0.71406	0.338000|0.338000|0.338000	0.23692|0.23692|0.23692	0.655000|0.655000|0.655000	0.94253|0.94253|0.94253	CAC|CCG|ACC		0.612	CPAMD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257531.2	NM_015692		21	48	1	0	3.62473e-10	1	4.36101e-10	21	48					T	17081776	G	T	17081776	3	4	87	1	0	0	0	0	1	0	0	0	3795	1261	44	5	3619	5	CPAMD8	19	17081776	Missense_Mutation	SNP	G	TCGA-EJ-7321-01A-31D-2260-08	9408731	17081776	42047207	52	4523											
PDE4C	5143	broad.mit.edu	37	chr19	18322726	18322726	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tggtggggttgctcagatcaGcacagtgcaccaggttctgc	7	10	14	10	0	3	1	2	0	1	1	3	1	3	1	1	4	4	5	1	4	0	2			TCGA-EJ-7321-01A-31D-2260-08	TCGA-EJ-7321-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaf38195-2e17-457f-bb4c-a8a44fc5e877	7132d9c7-5196-48c8-a3ce-fa2f34c7be74	g.chr19:18322726G>A	ENST00000355502.3	-	18	2505	c.1634C>T	c.(1633-1635)gCt>gTt	p.A545V	AC068499.10_ENST00000594805.3_RNA|PDE4C_ENST00000539010.1_Missense_Mutation_p.A314V|PDE4C_ENST00000594617.3_Missense_Mutation_p.A545V|AC068499.10_ENST00000599416.2_RNA|PDE4C_ENST00000594465.3_Missense_Mutation_p.A545V|PDE4C_ENST00000262805.12_Missense_Mutation_p.A513V|PDE4C_ENST00000597297.1_Missense_Mutation_p.A315V|PDE4C_ENST00000598111.2_Missense_Mutation_p.A260V|PDE4C_ENST00000447275.3_Missense_Mutation_p.A439V			Q08493	PDE4C_HUMAN	phosphodiesterase 4C, cAMP-specific	545					cAMP catabolic process (GO:0006198)|signal transduction (GO:0007165)	cytosol (GO:0005829)|extracellular space (GO:0005615)|primary cilium (GO:0072372)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	33					Caffeine(DB00201)|Dyphylline(DB00651)|Ibudilast(DB05266)|Iloprost(DB01088)|Ketotifen(DB00920)|Roflumilast(DB01656)	GCTCAGATCAGCACAGTGCAC	0.642																																						ENST00000355502.3																			0				breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	33						c.(1633-1635)gCt>gTt		phosphodiesterase 4C, cAMP-specific	Dyphylline(DB00651)						80	62	68					19																	18322726		2203	4300	6503	SO:0001583	missense	5143				signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding	g.chr19:18322726G>A		CCDS12373.1, CCDS42523.1, CCDS46016.1	19p13.11	2010-06-24	2010-06-24			ENSG00000105650	3.1.4.17	"Phosphodiesterases"	8782	protein-coding gene	gene with protein product	"phosphodiesterase E1 dunce homolog (Drosophila)"	600128	"phosphodiesterase 4C, cAMP-specific (dunce (Drosophila)-homolog phosphodiesterase E1)"	DPDE1			Standard	NM_001098818		Approved		uc002nik.4	Q08493		ENST00000355502.3:c.1634C>T	19.37:g.18322726G>A	ENSP00000347689:p.Ala545Val					AC068499.10_ENST00000594805.2_RNA|PDE4C_ENST00000447275.2_Missense_Mutation_p.A439V|PDE4C_ENST00000262805.11_Missense_Mutation_p.A513V|PDE4C_ENST00000539010.1_Missense_Mutation_p.A314V|PDE4C_ENST00000594465.2_Missense_Mutation_p.A545V|PDE4C_ENST00000594617.2_Missense_Mutation_p.A545V	p.A545V			Q08493	PDE4C_HUMAN			18	2505	-			545					B3KTC4|Q9UN44|Q9UN45|Q9UN46|Q9UPJ6	Missense_Mutation	SNP	ENST00000355502.3	37	c.1634C>T	CCDS12373.1	.	.	.	.	.	.	.	.	.	.	G	18.40	3.616631	0.66672	.	.	ENSG00000105650	ENST00000536045;ENST00000355502;ENST00000536507;ENST00000262805;ENST00000447275;ENST00000545961;ENST00000336173;ENST00000539010;ENST00000543547	T;T;T;T	0.80480	-1.38;-1.38;-1.38;-1.38	4.64	4.64	0.57946	Metal-dependent phosphohydrolase, HD domain (1);5&apos (2);-cyclic nucleotide phosphodiesterase, catalytic domain (2);3&apos (2);	0.000000	0.85682	D	0.000000	D	0.92941	0.7754	H	0.96916	3.905	0.46279	D	0.998965	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.998;0.997;0.999	D	0.95217	0.8330	10	0.87932	D	0	.	15.0054	0.71507	0.0:0.0:1.0:0.0	.	545;513;351;260	Q08493;Q08493-3;O43850;O76104	PDE4C_HUMAN;.;.;.	V	624;545;533;513;439;351;259;314;654	ENSP00000347689:A545V;ENSP00000262805:A513V;ENSP00000402091:A439V;ENSP00000439470:A314V	ENSP00000262805:A513V	A	-	2	0	PDE4C	18183726	1.000000	0.71417	0.340000	0.25575	0.083000	0.17756	9.377000	0.97184	2.137000	0.66172	0.561000	0.74099	GCT		0.642	PDE4C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466295.1			3	80	0	0	0	1	0	3	80					A	18322726	G	A	18322726	3	1	87	1	0	0	0	0	1	0	0	0	11641	971	34	3	512	3	PDE4C	19	18322726	Missense_Mutation	SNP	G	TCGA-EJ-7321-01A-31D-2260-08	1240950	18322726	40806257	53	4524											
FBXO46	23403	broad.mit.edu	37	chr19	46215458	46215458	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccctcggcatcgtctgggccGggcgcagtggccggggagtc	3	6	18	14	5	1	0	0	0	1	0	4	1	1	1	3	6	0	2	3	6	0	0			TCGA-EJ-7321-01A-31D-2260-08	TCGA-EJ-7321-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaf38195-2e17-457f-bb4c-a8a44fc5e877	7132d9c7-5196-48c8-a3ce-fa2f34c7be74	g.chr19:46215458G>A	ENST00000317683.3	-	2	1429	c.1296C>T	c.(1294-1296)ccC>ccT	p.P432P		NM_001080469.1	NP_001073938.1	Q6PJ61	FBX46_HUMAN	F-box protein 46	432										breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(2)|skin(1)	15		Ovarian(192;0.179)|all_neural(266;0.224)		OV - Ovarian serous cystadenocarcinoma(262;0.00568)|GBM - Glioblastoma multiforme(486;0.0844)|Epithelial(262;0.201)		CGTCTGGGCCGGGCGCAGTGG	0.716																																						ENST00000317683.3																			0				breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(2)|skin(1)	15						c.(1294-1296)ccC>ccT		F-box protein 46							6	7	7					19																	46215458		1726	3783	5509	SO:0001819	synonymous_variant	23403						protein binding	g.chr19:46215458G>A	BC021978	CCDS46116.1	19q13.3	2008-02-05	2004-06-15	2004-06-16		ENSG00000177051		"F-boxes /  "other""	25069	protein-coding gene	gene with protein product		609117	"F-box only protein 34-like"	FBXO34L		9585442	Standard	NM_001080469		Approved	20D7-FC4, Fbx46	uc002pcz.3	Q6PJ61		ENST00000317683.3:c.1296C>T	19.37:g.46215458G>A							p.P432P	NM_001080469.1	NP_001073938.1	Q6PJ61	FBX46_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00568)|GBM - Glioblastoma multiforme(486;0.0844)|Epithelial(262;0.201)	2	1429	-		Ovarian(192;0.179)|all_neural(266;0.224)	432						Silent	SNP	ENST00000317683.3	37	c.1296C>T	CCDS46116.1																																																																																				0.716	FBXO46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459661.1	XM_371179		2	6	0	0	0	1	0	2	6					A	46215458	G	A	46215458	2	1	87	1	0	0	0	0	0	0	0	1	5755	1103	39	2		2	FBXO46	19	46215458	Silent	SNP	G	TCGA-EJ-7321-01A-31D-2260-08	27892732	46215458	12913525	54	4525											
HAO1	54363	broad.mit.edu	37	chr20	7875791	7875791	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aaaactcacagtggctggcaCcccatcgagttgtcgagccc	10	7	10	14	2	1	0	1	0	0	0	3	2	1	0	3	2	2	3	3	2	2	1			TCGA-EJ-7321-01A-31D-2260-08	TCGA-EJ-7321-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaf38195-2e17-457f-bb4c-a8a44fc5e877	7132d9c7-5196-48c8-a3ce-fa2f34c7be74	g.chr20:7875791C>T	ENST00000378789.3	-	5	853	c.802G>A	c.(802-804)Gtg>Atg	p.V268M		NM_017545.2	NP_060015.1	Q9UJM8	HAOX1_HUMAN	hydroxyacid oxidase (glycolate oxidase) 1	268	FMN hydroxy acid dehydrogenase. {ECO:0000255|PROSITE-ProRule:PRU00683}.				cellular nitrogen compound metabolic process (GO:0034641)|fatty acid alpha-oxidation (GO:0001561)|glycolate catabolic process (GO:0046296)|glyoxylate metabolic process (GO:0046487)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)	peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	(S)-2-hydroxy-acid oxidase activity (GO:0003973)|FMN binding (GO:0010181)|glycolate oxidase activity (GO:0008891)|glyoxylate oxidase activity (GO:0047969)|long-chain-(S)-2-hydroxy-long-chain-acid oxidase activity (GO:0052853)|medium-chain-(S)-2-hydroxy-acid oxidase activity (GO:0052854)|receptor binding (GO:0005102)|very-long-chain-(S)-2-hydroxy-acid oxidase activity (GO:0052852)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						GTGGCTGGCACCCCATCGAGT	0.488																																						ENST00000378789.3																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						c.(802-804)Gtg>Atg		hydroxyacid oxidase (glycolate oxidase) 1							124	117	119					20																	7875791		2203	4300	6503	SO:0001583	missense	54363				cellular nitrogen compound metabolic process|fatty acid alpha-oxidation|glycolate catabolic process|glyoxylate metabolic process	peroxisomal matrix	FMN binding|glycolate oxidase activity|glyoxylate oxidase activity	g.chr20:7875791C>T	AL021879	CCDS13100.1	20p12	2005-01-10			ENSG00000101323	ENSG00000101323	1.1.3.15		4809	protein-coding gene	gene with protein product		605023		GOX1		9891009	Standard	NM_017545		Approved	GOX	uc002wmw.1	Q9UJM8	OTTHUMG00000031841	ENST00000378789.3:c.802G>A	20.37:g.7875791C>T	ENSP00000368066:p.Val268Met						p.V268M	NM_017545.2	NP_060015.1	Q9UJM8	HAOX1_HUMAN			5	853	-			268			FMN hydroxy acid dehydrogenase.		Q14CQ0|Q9UPZ0|Q9Y3I7	Missense_Mutation	SNP	ENST00000378789.3	37	c.802G>A	CCDS13100.1	.	.	.	.	.	.	.	.	.	.	C	28.6	4.930394	0.92389	.	.	ENSG00000101323	ENST00000378789	T	0.30182	1.54	5.97	5.97	0.96955	Aldolase-type TIM barrel (1);FMN-dependent dehydrogenase (1);	0.000000	0.85682	D	0.000000	T	0.55114	0.1900	M	0.72894	2.215	0.80722	D	1	P;P	0.37423	0.594;0.594	P;P	0.53035	0.716;0.716	T	0.50931	-0.8769	10	0.72032	D	0.01	-24.99	20.4388	0.99107	0.0:1.0:0.0:0.0	.	268;268	A8K058;Q9UJM8	.;HAOX1_HUMAN	M	268	ENSP00000368066:V268M	ENSP00000368066:V268M	V	-	1	0	HAO1	7823791	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.530000	0.67141	2.836000	0.97738	0.655000	0.94253	GTG		0.488	HAO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077926.2			35	107	0	0	0	1	0	35	107					T	7875791	C	T	7875791	3	4	87	1	0	0	0	0	1	0	0	0	6951	507	18	3	326	3	HAO1	20	7875791	Missense_Mutation	SNP	C	TCGA-EJ-7321-01A-31D-2260-08		7875791	55149729	55	4526											
SULF2	55959	broad.mit.edu	37	chr20	46295212	46295212	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgagcggatggagcgactgcGgacatagctggccttgtact	8	9	15	9	3	0	1	0	1	0	0	0	5	0	4	1	4	5	2	1	4	2	3	rs140175454		TCGA-EJ-7321-01A-31D-2260-08	TCGA-EJ-7321-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaf38195-2e17-457f-bb4c-a8a44fc5e877	7132d9c7-5196-48c8-a3ce-fa2f34c7be74	g.chr20:46295212G>A	ENST00000359930.4	-	12	2448	c.1597C>T	c.(1597-1599)Cgc>Tgc	p.R533C	SULF2_ENST00000467815.1_Missense_Mutation_p.R533C|SULF2_ENST00000484875.1_Missense_Mutation_p.R533C|SULF2_ENST00000361612.4_Missense_Mutation_p.R533C	NM_018837.3	NP_061325.1	Q8IWU5	SULF2_HUMAN	sulfatase 2	533					bone development (GO:0060348)|cartilage development (GO:0051216)|chondrocyte development (GO:0002063)|embryonic skeletal system development (GO:0048706)|esophagus smooth muscle contraction (GO:0014846)|glial cell-derived neurotrophic factor receptor signaling pathway (GO:0035860)|glomerular basement membrane development (GO:0032836)|glomerular filtration (GO:0003094)|heparan sulfate proteoglycan metabolic process (GO:0030201)|innervation (GO:0060384)|kidney development (GO:0001822)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|positive regulation of Wnt signaling pathway (GO:0030177)|positive regulation vascular endothelial growth factor production (GO:0010575)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	arylsulfatase activity (GO:0004065)|calcium ion binding (GO:0005509)|N-acetylglucosamine-6-sulfatase activity (GO:0008449)			breast(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	54						GAGCGACTGCGGACATAGCTG	0.627																																						ENST00000359930.4																			0				breast(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	54						c.(1597-1599)Cgc>Tgc		sulfatase 2		G	CYS/ARG,CYS/ARG,CYS/ARG	0,4406		0,0,2203	70	63	66		1597,1597,1597	4.6	0.1	20	dbSNP_134	66	1,8597	1.2+/-3.3	0,1,4298	yes	missense,missense,missense	SULF2	NM_001161841.1,NM_018837.3,NM_198596.2	180,180,180	0,1,6501	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging	533/871,533/871,533/868	46295212	1,13003	2203	4299	6502	SO:0001583	missense	55959				bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding	g.chr20:46295212G>A	AY101176	CCDS13408.1, CCDS13409.1, CCDS13409.2	20q13.12-q13.13	2008-05-14			ENSG00000196562	ENSG00000196562			20392	protein-coding gene	gene with protein product		610013				12368295	Standard	NM_018837		Approved	KIAA1247, HSULF-2, SULF-2	uc002xto.3	Q8IWU5	OTTHUMG00000032675	ENST00000359930.4:c.1597C>T	20.37:g.46295212G>A	ENSP00000353007:p.Arg533Cys					SULF2_ENST00000361612.4_Missense_Mutation_p.R533C|SULF2_ENST00000484875.1_Missense_Mutation_p.R533C|SULF2_ENST00000467815.1_Missense_Mutation_p.R533C	p.R533C	NM_018837.3	NP_061325.1	Q8IWU5	SULF2_HUMAN			12	2448	-			533					E1P5U6|Q5JYE1|Q6UX86|Q96SG2|Q9H1H0|Q9UJR3|Q9ULH3	Missense_Mutation	SNP	ENST00000359930.4	37	c.1597C>T	CCDS13408.1	.	.	.	.	.	.	.	.	.	.	G	12.99	2.103211	0.37145	0.0	1.16E-4	ENSG00000196562	ENST00000359930;ENST00000484875;ENST00000361612;ENST00000467815	D;D;D;D	0.99158	-5.5;-5.5;-5.5;-5.5	4.61	4.61	0.57282	Extracellular sulfatase, C-terminal (1);Alkaline-phosphatase-like, core domain (1);	0.270585	0.39909	N	0.001228	D	0.98963	0.9647	M	0.65498	2.005	0.53688	D	0.999975	D;D	0.89917	1.0;1.0	D;D	0.75484	0.961;0.986	D	0.99004	1.0812	10	0.87932	D	0	-15.0404	12.7045	0.57054	0.0:0.0:0.8355:0.1645	.	533;533	Q8IWU5-2;Q8IWU5	.;SULF2_HUMAN	C	533	ENSP00000353007:R533C;ENSP00000418290:R533C;ENSP00000354662:R533C;ENSP00000418442:R533C	ENSP00000353007:R533C	R	-	1	0	SULF2	45728619	0.990000	0.36364	0.136000	0.22124	0.016000	0.09150	3.814000	0.55643	2.397000	0.81536	0.563000	0.77884	CGC		0.627	SULF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079606.1	NM_018837		3	156	0	0	0	1	0	3	156					A	46295212	G	A	46295212	3	1	87	1	0	0	0	0	1	0	0	0	15370	1116	39	2	1055	2	SULF2	20	46295212	Missense_Mutation	SNP	G	TCGA-EJ-7321-01A-31D-2260-08	38419421	46295212	16730308	56	4527											
C22orf9	23313	broad.mit.edu	37	chr22	45595785	45595785	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcctcccggaagaactcctcGctgtcgttggccgagtgcga	6	9	12	14	5	0	1	0	0	0	1	5	4	3	2	4	2	2	2	4	2	2	1			TCGA-EJ-7321-01A-31D-2260-08	TCGA-EJ-7321-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaf38195-2e17-457f-bb4c-a8a44fc5e877	7132d9c7-5196-48c8-a3ce-fa2f34c7be74	g.chr22:45595785G>A	ENST00000336156.5	-	8	1049	c.984C>T	c.(982-984)agC>agT	p.S328S	MIR1249_ENST00000408671.1_RNA|KIAA0930_ENST00000474515.1_5'UTR|KIAA0930_ENST00000251993.7_Silent_p.S333S|KIAA0930_ENST00000443310.3_Silent_p.S310S|KIAA0930_ENST00000391627.2_Silent_p.S294S	NM_001009880.1	NP_001009880.1	Q6ICG6	K0930_HUMAN	KIAA0930	328										endometrium(1)|kidney(4)|large_intestine(2)|lung(7)|urinary_tract(1)	15						AGAACTCCTCGCTGTCGTTGG	0.612																																						ENST00000336156.4																			0				endometrium(1)|kidney(4)|large_intestine(2)|lung(7)|urinary_tract(1)	15						c.(982-984)agC>agT		KIAA0930							98	91	94					22																	45595785		2203	4300	6503	SO:0001819	synonymous_variant	23313						protein binding	g.chr22:45595785G>A	AK025608	CCDS33665.1, CCDS33666.1	22q13.31	2011-02-23	2011-02-23	2011-02-23	ENSG00000100364	ENSG00000100364			1314	protein-coding gene	gene with protein product			"chromosome 22 open reading frame 9"	C22orf9		10231032	Standard	NM_015264		Approved	bK268H5.C22.1	uc003bfw.1	Q6ICG6	OTTHUMG00000151263	ENST00000336156.5:c.984C>T	22.37:g.45595785G>A						KIAA0930_ENST00000391627.2_Silent_p.S294S|KIAA0930_ENST00000443310.3_Silent_p.S310S|KIAA0930_ENST00000474515.1_5'UTR|KIAA0930_ENST00000251993.7_Silent_p.S333S	p.S328S	NM_001009880.1	NP_001009880.1	Q6ICG6	K0930_HUMAN			8	1049	-			328					B0QY17|B0QY19|B3KT48|Q6ZVE5|Q7Z6K9|Q8IZ76|Q9Y2E2	Silent	SNP	ENST00000336156.5	37	c.984C>T	CCDS33665.1																																																																																				0.612	KIAA0930-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321975.2	NM_001009880		12	118	0	0	0	1	0	12	118					A	45595785	G	A	45595785	2	1	87	1	0	0	0	0	0	0	0	1	2151	1078	38	1		1	C22orf9	22	45595785	Silent	SNP	G	TCGA-EJ-7321-01A-31D-2260-08		45595785	5708781	57	4528											
FAM47A	158724	broad.mit.edu	37	chrX	34150170	34150170	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agatattttggggagtaaaaActcgtcacggcgacaaacga	15	8	11	7	4	1	1	1	0	0	1	2	4	1	2	0	3	2	1	0	3	5	4			TCGA-EJ-7321-01A-31D-2260-08	TCGA-EJ-7321-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaf38195-2e17-457f-bb4c-a8a44fc5e877	7132d9c7-5196-48c8-a3ce-fa2f34c7be74	g.chrX:34150170A>T	ENST00000346193.3	-	1	277	c.226T>A	c.(226-228)Ttt>Att	p.F76I		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	76										NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						GGGAGTAAAAACTCGTCACGG	0.532																																						ENST00000346193.3																			0				NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						c.(226-228)Ttt>Att		family with sequence similarity 47, member A							90	86	87					X																	34150170		2202	4300	6502	SO:0001583	missense	158724							g.chrX:34150170A>T	BC026171	CCDS43926.1	Xp21.1	2004-08-09			ENSG00000185448	ENSG00000185448			29962	protein-coding gene	gene with protein product	"similar to hypothetical protein FLJ35782"					12477932	Standard	NM_203408		Approved	MGC27003	uc004ddg.3	Q5JRC9	OTTHUMG00000021339	ENST00000346193.3:c.226T>A	X.37:g.34150170A>T	ENSP00000345029:p.Phe76Ile						p.F76I	NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN			1	277	-			76					A8K8I9|Q8TAA0	Missense_Mutation	SNP	ENST00000346193.3	37	c.226T>A	CCDS43926.1	.	.	.	.	.	.	.	.	.	.	A	11.88	1.771508	0.31320	.	.	ENSG00000185448	ENST00000346193	T	0.19806	2.12	1.1	-1.53	0.08611	.	.	.	.	.	T	0.20861	0.0502	L	0.55481	1.735	0.09310	N	1	B	0.31680	0.335	B	0.38616	0.277	T	0.34527	-0.9825	9	0.59425	D	0.04	.	4.9947	0.14233	0.5975:0.4025:0.0:0.0	.	76	Q5JRC9	FA47A_HUMAN	I	76	ENSP00000345029:F76I	ENSP00000345029:F76I	F	-	1	0	FAM47A	34060091	0.001000	0.12720	0.001000	0.08648	0.001000	0.01503	-0.520000	0.06252	-0.599000	0.05798	-0.691000	0.03719	TTT		0.532	FAM47A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056205.1	NM_203408		7	28	0	0	0	1	0	7	28					T	34150170	A	T	34150170	3	4	87	1	0	0	0	0	1	0	0	0	5569	43	2	5	2153	5	FAM47A	23	34150170	Missense_Mutation	SNP	A	TCGA-EJ-7321-01A-31D-2260-08		34150170	121120390	58	4529											
GPRASP2	114928	broad.mit.edu	37	chrX	101972035	101972035	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaatgctattgaatttgtcTgaaaatcctgctgtggcaaa	14	13	8	6	0	1	2	0	2	1	0	2	2	2	2	1	1	2	3	1	1	7	3			TCGA-EJ-7321-01A-31D-2260-08	TCGA-EJ-7321-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaf38195-2e17-457f-bb4c-a8a44fc5e877	7132d9c7-5196-48c8-a3ce-fa2f34c7be74	g.chrX:101972035T>G	ENST00000535209.1	+	4	3069	c.2238T>G	c.(2236-2238)tcT>tcG	p.S746S	GPRASP2_ENST00000543253.1_Silent_p.S746S|GPRASP2_ENST00000332262.5_Silent_p.S746S			Q96D09	GASP2_HUMAN	G protein-coupled receptor associated sorting protein 2	746						cytoplasm (GO:0005737)	beta-amyloid binding (GO:0001540)			breast(3)|endometrium(5)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	30						TGAATTTGTCTGAAAATCCTG	0.368																																						ENST00000543253.1																			0				breast(3)|endometrium(5)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	30						c.(2236-2238)tcT>tcG		G protein-coupled receptor associated sorting protein 2							81	80	80					X																	101972035		2203	4300	6503	SO:0001819	synonymous_variant	114928							g.chrX:101972035T>G	AK094646	CCDS14501.1	Xq22.1	2014-03-21			ENSG00000158301	ENSG00000158301		"Armadillo repeat containing"	25169	protein-coding gene	gene with protein product						15086532, 16221301	Standard	NM_138437		Approved	GASP2, FLJ37327		Q96D09	OTTHUMG00000022059	ENST00000535209.1:c.2238T>G	X.37:g.101972035T>G						GPRASP2_ENST00000535209.1_Silent_p.S746S|GPRASP2_ENST00000332262.5_Silent_p.S746S	p.S746S	NM_001004051.3|NM_001184874.2|NM_001184876.2	NP_001004051.1|NP_001171803.1|NP_001171805.1					5	3157	+								D3DXA0|Q8NAB4	Silent	SNP	ENST00000535209.1	37	c.2238T>G	CCDS14501.1																																																																																				0.368	GPRASP2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057626.2	NM_138437		5	53	0	0	0	1	0	5	53					G	101972035	T	G	101972035	2	3	87	1	0	0	0	0	0	0	0	1	6723	1567	55	5		5	GPRASP2	23	101972035	Silent	SNP	T	TCGA-EJ-7321-01A-31D-2260-08	67821865	101972035	53298525	59	4530											
KPRP	448834	broad.mit.edu	37	chr1	152732860	152732860	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ctcggcggctgcagcttttcCcccgcagctgttccccacca	4	9	9	19	3	0	0	0	0	0	0	3	0	2	0	5	2	3	6	5	2	0	3			TCGA-EJ-7325-01B-11D-A32B-08	TCGA-EJ-7325-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57c67ced-cab5-4e66-a6b8-04c020bd4a3e	16fc1662-ec00-4bfc-abf6-ce18b7ae0f4d	g.chr1:152732860C>T	ENST00000606109.1	+	1	824	c.796C>T	c.(796-798)Ccc>Tcc	p.P266S	KPRP_ENST00000368773.1_Missense_Mutation_p.P266S			Q5T749	KPRP_HUMAN	keratinocyte proline-rich protein	266	Pro-rich.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)				NS(1)|breast(1)|endometrium(9)|kidney(1)|large_intestine(10)|lung(21)|ovary(6)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCAGCTTTTCCCCCGCAGCTG	0.617																																						ENST00000368773.1																			0				NS(1)|breast(1)|endometrium(9)|kidney(1)|large_intestine(10)|lung(21)|ovary(6)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						c.(796-798)Ccc>Tcc		keratinocyte proline-rich protein							35	42	39					1																	152732860		2203	4300	6503	SO:0001583	missense	448834					cytoplasm		g.chr1:152732860C>T	AY960854	CCDS30862.1	1q21.3	2008-02-05	2007-02-02	2006-12-07	ENSG00000203786	ENSG00000203786			31823	protein-coding gene	gene with protein product		613260	"chromosome 1 open reading frame 45"	C1orf45		16297201	Standard	NM_001025231		Approved		uc001fal.1	Q5T749	OTTHUMG00000012402	ENST00000606109.1:c.796C>T	1.37:g.152732860C>T	ENSP00000475216:p.Pro266Ser					KPRP_ENST00000606109.1_Missense_Mutation_p.P266S	p.P266S	NM_001025231.1	NP_001020402.1	Q5T749	KPRP_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	854	+	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		266			Pro-rich.			Missense_Mutation	SNP	ENST00000606109.1	37	c.796C>T	CCDS30862.1	.	.	.	.	.	.	.	.	.	.	C	6.946	0.544374	0.13312	.	.	ENSG00000203786	ENST00000368773	T	0.11277	2.79	5.68	0.803	0.18691	.	0.806142	0.10517	N	0.665444	T	0.01627	0.0052	N	0.14661	0.345	0.09310	N	1	B	0.33583	0.418	B	0.33960	0.173	T	0.45963	-0.9225	10	0.36615	T	0.2	-7.0102	3.1208	0.06391	0.1827:0.318:0.0:0.4993	.	266	Q5T749	KPRP_HUMAN	S	266	ENSP00000357762:P266S	ENSP00000357762:P266S	P	+	1	0	KPRP	150999484	0.004000	0.15560	0.160000	0.22671	0.702000	0.40608	0.058000	0.14301	0.168000	0.19655	0.655000	0.94253	CCC		0.617	KPRP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034522.2	NM_001025231		20	32	0	0	0	1	0	20	32					T	152732860	C	T	152732860	3	4	88	1	0	0	0	0	1	0	0	0	8436	623	22	3	798	3	KPRP	1	152732860	Missense_Mutation	SNP	C	TCGA-EJ-7325-01B-11D-A32B-08		152732860	96517761	1	4531											
SMG7	9887	broad.mit.edu	37	chr1	183513586	183513589	+	Frame_Shift_Del	DEL	CCCC	CCCC	-																															gcaagtaactcccagttcatCcccattcatcaccctggagc																										TCGA-EJ-7325-01B-11D-A32B-08	TCGA-EJ-7325-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57c67ced-cab5-4e66-a6b8-04c020bd4a3e	16fc1662-ec00-4bfc-abf6-ce18b7ae0f4d	g.chr1:183513586_183513589delCCCC	ENST00000347615.2	+	15	2060_2063	c.1941_1944delCCCC	c.(1939-1944)atccccfs	p.IP647fs	SMG7_ENST00000456731.2_Frame_Shift_Del_p.IP559fs|SMG7_ENST00000508461.1_Frame_Shift_Del_p.IP605fs|SMG7_ENST00000507469.1_Frame_Shift_Del_p.IP601fs|SMG7_ENST00000367537.3_Frame_Shift_Del_p.IP630fs|SMG7_ENST00000515829.2_Frame_Shift_Del_p.IP601fs	NM_173156.2	NP_775179.1	Q92540	SMG7_HUMAN	SMG7 nonsense mediated mRNA decay factor	647					gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of dephosphorylation (GO:0035303)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)	protein phosphatase 2A binding (GO:0051721)			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(16)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						CCCAGTTCATCCCCATTCATCACC	0.426																																						ENST00000367537.3																			0				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(16)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						c.(1888-1893)atfs		SMG7 nonsense mediated mRNA decay factor																																				SO:0001589	frameshift_variant	9887				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation	cytoplasm|intermediate filament cytoskeleton|nucleus	protein phosphatase 2A binding	g.chr1:183513586_183513589delCCCC	D87437	CCDS1355.1, CCDS41445.1, CCDS41445.2, CCDS53444.1, CCDS53445.1	1q25	2013-07-02	2013-07-02	2006-02-16	ENSG00000116698	ENSG00000116698			16792	protein-coding gene	gene with protein product	"EST1 telomerase component homolog C (S. cerevisiae)"	610964	"chromosome 1 open reading frame 16", "smg-7 homolog, nonsense mediated mRNA decay factor (C. elegans)"	C1orf16		14636577, 15721257	Standard	NM_173156		Approved	KIAA0250, EST1C, SGA56M, SMG-7	uc001gqf.3	Q92540	OTTHUMG00000035221	ENST00000347615.2:c.1941_1944delCCCC	1.37:g.183513586_183513589delCCCC	ENSP00000340766:p.Ile647fs					SMG7_ENST00000507469.1_Frame_Shift_Del_p.IP601fs|SMG7_ENST00000456731.2_Frame_Shift_Del_p.IP559fs|SMG7_ENST00000508461.1_Frame_Shift_Del_p.IP605fs|SMG7_ENST00000515829.2_Frame_Shift_Del_p.IP601fs|SMG7_ENST00000347615.2_Frame_Shift_Del_p.IP647fs	p.IP630fs			Q92540	SMG7_HUMAN			16	2085_2088	+			647					B4DRB2|E9PCI0|E9PEH2|Q5T1Q0|Q6PIE0|Q7Z7H9|Q8IXC1|Q8IXC2	Frame_Shift_Del	DEL	ENST00000347615.2	37	c.1890_1893delCCCC	CCDS1355.1																																																																																				0.426	SMG7-002	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000085432.1	NM_014837		32	80						32	80	---	---	---	---	-	183513589	CCCC	-	183513586	7	5	88	1	0	1	0	1	0	0	0	0	14798	845	30	0	1999	0	SMG7	1	183513586	Frame_Shift_Del	DEL	CCCC	TCGA-EJ-7325-01B-11D-A32B-08	30780726	183513586	65737035	2	4532											
NFASC	23114	broad.mit.edu	37	chr1	204926875	204926875	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atgctgcaggacatgcagacCgactacagttgtaacgcccg	11	7	11	12	3	0	1	0	0	0	1	0	3	0	2	2	1	5	5	2	1	2	3	rs374961734		TCGA-EJ-7325-01B-11D-A32B-08	TCGA-EJ-7325-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57c67ced-cab5-4e66-a6b8-04c020bd4a3e	16fc1662-ec00-4bfc-abf6-ce18b7ae0f4d	g.chr1:204926875C>T	ENST00000401399.1	+	7	826	c.627C>T	c.(625-627)acC>acT	p.T209T	NFASC_ENST00000367169.4_Silent_p.T209T|NFASC_ENST00000539706.1_Silent_p.T203T|NFASC_ENST00000339876.6_Silent_p.T209T|NFASC_ENST00000360049.4_Silent_p.T203T|NFASC_ENST00000367171.4_Silent_p.T209T|NFASC_ENST00000404076.1_Silent_p.T203T|NFASC_ENST00000338515.6_Silent_p.T209T|NFASC_ENST00000403080.1_Silent_p.T209T|NFASC_ENST00000404907.1_Silent_p.T203T|NFASC_ENST00000338586.6_Silent_p.T209T|NFASC_ENST00000367170.4_Silent_p.T209T|NFASC_ENST00000513543.1_Silent_p.T203T|NFASC_ENST00000367172.4_Silent_p.T209T			O94856	NFASC_HUMAN	neurofascin	209	Ig-like C2-type 2.				axon guidance (GO:0007411)|clustering of voltage-gated sodium channels (GO:0045162)|heterotypic cell-cell adhesion (GO:0034113)|myelination (GO:0042552)|paranodal junction assembly (GO:0030913)|peripheral nervous system development (GO:0007422)|protein localization to juxtaparanode region of axon (GO:0071205)|protein localization to paranode region of axon (GO:0002175)|synapse organization (GO:0050808)|transmission of nerve impulse (GO:0019226)	axon initial segment (GO:0043194)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|node of Ranvier (GO:0033268)|paranodal junction (GO:0033010)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)		p.T209T(1)|p.T203T(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	81	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			ACATGCAGACCGACTACAGTT	0.537																																						ENST00000367172.4																			2	Substitution - coding silent(2)	p.T209T(1)|p.T203T(1)	prostate(2)	NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	81						c.(625-627)acC>acT		neurofascin		C	,,,,,	1,4405	2.1+/-5.4	0,1,2202	169	148	155		627,627,609,609,609,609	-9.2	0.4	1		155	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	NFASC	NM_001005388.2,NM_001005389.1,NM_001160331.1,NM_001160332.1,NM_001160333.1,NM_015090.3	,,,,,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,,,,,	209/1241,209/620,203/1190,203/1175,203/614,203/1170	204926875	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	23114				axon guidance|cell adhesion|myelination|peripheral nervous system development	integral to membrane|node of Ranvier|plasma membrane	protein binding	g.chr1:204926875C>T	AK027553	CCDS30982.1, CCDS53460.1, CCDS53461.1, CCDS53462.1	1q32.1	2013-02-11	2010-06-24		ENSG00000163531	ENSG00000163531		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	29866	protein-coding gene	gene with protein product		609145	"neurofascin homolog (chicken)"			1377696, 8672144	Standard	NM_015090		Approved	NRCAML, KIAA0756, FLJ46866, NF	uc001hbj.3	O94856	OTTHUMG00000151697	ENST00000401399.1:c.627C>T	1.37:g.204926875C>T						NFASC_ENST00000367171.4_Silent_p.T209T|NFASC_ENST00000338515.6_Silent_p.T209T|NFASC_ENST00000367169.4_Silent_p.T209T|NFASC_ENST00000513543.1_Silent_p.T203T|NFASC_ENST00000539706.1_Silent_p.T203T|NFASC_ENST00000403080.1_Silent_p.T209T|NFASC_ENST00000401399.1_Silent_p.T209T|NFASC_ENST00000404076.1_Silent_p.T203T|NFASC_ENST00000367170.4_Silent_p.T209T|NFASC_ENST00000338586.6_Silent_p.T209T|NFASC_ENST00000404907.1_Silent_p.T203T|NFASC_ENST00000360049.4_Silent_p.T203T|NFASC_ENST00000339876.6_Silent_p.T209T	p.T209T			O94856	NFASC_HUMAN	KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)		8	955	+	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		209			Ig-like C2-type 2.		B2RNN8|B3KQZ1|B5MDP6|B5MDR6|B7ZMD8|Q149P5|Q5T2F0|Q5T2F1|Q5T2F2|Q5T2F3|Q5T2F4|Q5T2F5|Q5T2F6|Q5T2F7|Q5T2F9|Q5T2G0|Q5W9F8|Q68DH3|Q6ZQV6|Q7Z3K1|Q96HT1|Q96K50	Silent	SNP	ENST00000401399.1	37	c.627C>T	CCDS53460.1	.	.	.	.	.	.	.	.	.	.	C	9.700	1.154169	0.21371	2.27E-4	0.0	ENSG00000163531	ENST00000367173	.	.	.	4.61	-9.22	0.00675	.	.	.	.	.	T	0.33876	0.0878	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.39901	-0.9591	4	.	.	.	.	2.3027	0.04166	0.1693:0.1698:0.1645:0.4964	.	.	.	.	L	179	.	.	P	+	2	0	NFASC	203193498	0.000000	0.05858	0.386000	0.26170	0.994000	0.84299	-4.355000	0.00247	-2.569000	0.00469	-0.136000	0.14681	CCG		0.537	NFASC-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000131237.1	NM_001005388		11	73	0	0	0	1	0	11	73					T	204926875	C	T	204926875	2	4	88	1	0	0	0	0	0	0	0	1	10359	639	23	2		2	NFASC	1	204926875	Silent	SNP	C	TCGA-EJ-7325-01B-11D-A32B-08	21413289	204926875	44323746	3	4533											
FLVCR1	28982	broad.mit.edu	37	chr1	213032441	213032441	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgctcggtggcccaggtgtTcatcctgggcttgccctccc	2	11	13	15	1	1	0	1	0	0	0	4	0	3	0	4	4	2	3	4	4	0	2			TCGA-EJ-7325-01B-11D-A32B-08	TCGA-EJ-7325-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57c67ced-cab5-4e66-a6b8-04c020bd4a3e	16fc1662-ec00-4bfc-abf6-ce18b7ae0f4d	g.chr1:213032441T>G	ENST00000366971.4	+	1	845	c.647T>G	c.(646-648)tTc>tGc	p.F216C	FLVCR1-AS1_ENST00000356684.3_lincRNA	NM_014053.3	NP_054772.1	Q9Y5Y0	FLVC1_HUMAN	feline leukemia virus subgroup C cellular receptor 1	216					blood vessel development (GO:0001568)|cell death (GO:0008219)|cellular iron ion homeostasis (GO:0006879)|embryonic digit morphogenesis (GO:0042733)|embryonic skeletal system morphogenesis (GO:0048704)|erythrocyte differentiation (GO:0030218)|erythrocyte maturation (GO:0043249)|head morphogenesis (GO:0060323)|heme export (GO:0097037)|heme transport (GO:0015886)|in utero embryonic development (GO:0001701)|mitochondrial transport (GO:0006839)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|regulation of organ growth (GO:0046620)|spleen development (GO:0048536)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	heme transporter activity (GO:0015232)|transporter activity (GO:0005215)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(2)	12				OV - Ovarian serous cystadenocarcinoma(81;0.00733)|all cancers(67;0.013)|GBM - Glioblastoma multiforme(131;0.0845)|Epithelial(68;0.11)		GCCCAGGTGTTCATCCTGGGC	0.607																																					Esophageal Squamous(199;2235 2952 19233 26256)	ENST00000366971.4																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(2)	12						c.(646-648)tTc>tGc		feline leukemia virus subgroup C cellular receptor 1							69	60	63					1																	213032441		2203	4300	6503	SO:0001583	missense	28982				cell death|cellular iron ion homeostasis|heme export|transmembrane transport	integral to plasma membrane	heme transporter activity|protein binding|receptor activity	g.chr1:213032441T>G	AF118637	CCDS1510.1	1q32.3	2014-05-30			ENSG00000162769	ENSG00000162769		"Solute carriers"	24682	protein-coding gene	gene with protein product		609144	"ataxia, posterior column 1, with retinitis pigmentosa"	AXPC1		10400745, 10648427, 21070897	Standard	NM_014053		Approved	FLVCR, MFSD7B, PCA	uc001hjt.3	Q9Y5Y0	OTTHUMG00000036924	ENST00000366971.4:c.647T>G	1.37:g.213032441T>G	ENSP00000355938:p.Phe216Cys						p.F216C	NM_014053.3	NP_054772.1	Q9Y5Y0	FLVC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.00733)|all cancers(67;0.013)|GBM - Glioblastoma multiforme(131;0.0845)|Epithelial(68;0.11)	1	845	+			216					Q1HE16|Q86XY9|Q9NVR9	Missense_Mutation	SNP	ENST00000366971.4	37	c.647T>G	CCDS1510.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	23.7|23.7	4.452338|4.452338	0.84209|0.84209	.|.	.|.	ENSG00000162769|ENSG00000162769	ENST00000366971|ENST00000419102	D|.	0.95377|.	-3.69|.	5.5|5.5	5.5|5.5	0.81552|0.81552	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.83982|0.83982	0.5372|0.5372	M|M	0.91300|0.91300	3.195|3.195	0.80722|0.80722	D|D	1|1	P|.	0.45126|.	0.851|.	P|.	0.59357|.	0.856|.	D|D	0.87641|0.87641	0.2522|0.2522	10|5	0.62326|.	D|.	0.03|.	-49.4437|-49.4437	14.7855|14.7855	0.69800|0.69800	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	216|.	Q9Y5Y0|.	FLVC1_HUMAN|.	C|A	216|62	ENSP00000355938:F216C|.	ENSP00000355938:F216C|.	F|S	+|+	2|1	0|0	FLVCR1|FLVCR1	211099064|211099064	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	7.639000|7.639000	0.83342|0.83342	2.087000|2.087000	0.62958|0.62958	0.533000|0.533000	0.62120|0.62120	TTC|TCA		0.607	FLVCR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089678.2	NM_014053		21	21	0	0	0	1	0	21	21					G	213032441	T	G	213032441	3	3	88	1	0	0	0	0	1	0	0	0	5945	1783	62	5	649	5	FLVCR1	1	213032441	Missense_Mutation	SNP	T	TCGA-EJ-7325-01B-11D-A32B-08	8105566	213032441	36218180	4	4534											
GGPS1	9453	broad.mit.edu	37	chr1	235505067	235505067	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacaggcatttaatcattggCtgaaagttccagaggacaag	14	9	10	8	0	1	2	1	1	0	1	2	3	2	3	1	3	0	3	1	3	3	4			TCGA-EJ-7325-01B-11D-A32B-08	TCGA-EJ-7325-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57c67ced-cab5-4e66-a6b8-04c020bd4a3e	16fc1662-ec00-4bfc-abf6-ce18b7ae0f4d	g.chr1:235505067C>T	ENST00000282841.5	+	3	347	c.115C>T	c.(115-117)Ctg>Ttg	p.L39L	GGPS1_ENST00000476121.1_Silent_p.L39L|GGPS1_ENST00000358966.2_Silent_p.L39L|GGPS1_ENST00000391855.2_5'UTR|GGPS1_ENST00000488594.1_Silent_p.L39L			O95749	GGPPS_HUMAN	geranylgeranyl diphosphate synthase 1	39					cholesterol biosynthetic process (GO:0006695)|farnesyl diphosphate biosynthetic process (GO:0045337)|geranyl diphosphate biosynthetic process (GO:0033384)|geranylgeranyl diphosphate biosynthetic process (GO:0033386)|isoprenoid metabolic process (GO:0006720)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	dimethylallyltranstransferase activity (GO:0004161)|farnesyltranstransferase activity (GO:0004311)|geranyltranstransferase activity (GO:0004337)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)	8	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00192)|Prostate(94;0.0294)|all_epithelial(177;0.155)|Lung SC(1967;0.238)	OV - Ovarian serous cystadenocarcinoma(106;1.39e-05)		Zoledronate(DB00399)	TAATCATTGGCTGAAAGTTCC	0.328																																						ENST00000282841.5																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)	8						c.(115-117)Ctg>Ttg		geranylgeranyl diphosphate synthase 1							86	86	86					1																	235505067		2203	4300	6503	SO:0001819	synonymous_variant	9453				cholesterol biosynthetic process|isoprenoid biosynthetic process	cytosol|soluble fraction	dimethylallyltranstransferase activity|farnesyltranstransferase activity|geranyltranstransferase activity|metal ion binding	g.chr1:235505067C>T	AB016043	CCDS1604.1	1q43	2010-04-27			ENSG00000152904	ENSG00000152904	2.5.1.1, 2.5.1.10, 2.5.1.29		4249	protein-coding gene	gene with protein product		606982				9741684, 10101267	Standard	NR_036605		Approved	GGPPS1	uc001hwv.3	O95749	OTTHUMG00000037963	ENST00000282841.5:c.115C>T	1.37:g.235505067C>T						GGPS1_ENST00000358966.2_Silent_p.L39L|GGPS1_ENST00000488594.1_Silent_p.L39L|GGPS1_ENST00000476121.1_Silent_p.L39L|GGPS1_ENST00000391855.2_5'UTR	p.L39L			O95749	GGPPS_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;1.39e-05)		3	347	+	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00192)|Prostate(94;0.0294)|all_epithelial(177;0.155)|Lung SC(1967;0.238)	39					A8MVQ8|Q5T2C8|Q6NW19	Silent	SNP	ENST00000282841.5	37	c.115C>T	CCDS1604.1																																																																																				0.328	GGPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092656.1	NM_004837		21	68	0	0	0	1	0	21	68					T	235505067	C	T	235505067	2	4	88	1	0	0	0	0	0	0	0	1	6360	796	28	3		3	GGPS1	1	235505067	Silent	SNP	C	TCGA-EJ-7325-01B-11D-A32B-08	22472626	235505067	13745554	5	4535											
RYR2	6262	broad.mit.edu	37	chr1	237893572	237893572	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cctttcaggcatcgggctgtCaatctctttcttcagggata	7	14	9	11	1	5	0	3	0	2	0	7	1	5	1	1	3	0	2	1	3	2	4			TCGA-EJ-7325-01B-11D-A32B-08	TCGA-EJ-7325-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57c67ced-cab5-4e66-a6b8-04c020bd4a3e	16fc1662-ec00-4bfc-abf6-ce18b7ae0f4d	g.chr1:237893572C>T	ENST00000366574.2	+	77	11168	c.10851C>T	c.(10849-10851)gtC>gtT	p.V3617V	RYR2_ENST00000542537.1_Silent_p.V3601V|RYR2_ENST00000360064.6_Silent_p.V3615V|RYR2_ENST00000609119.1_3'UTR	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	3617					BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			ATCGGGCTGTCAATCTCTTTC	0.333																																						ENST00000366574.2																			0				NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586						c.(10849-10851)gtC>gtT		ryanodine receptor 2 (cardiac)							78	72	74					1																	237893572		1828	4078	5906	SO:0001819	synonymous_variant	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237893572C>T	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"Ion channels / Ryanodine receptors", "EF-hand domain containing"	10484	protein-coding gene	gene with protein product		180902	"arrhythmogenic right ventricular dysplasia 2"	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.10851C>T	1.37:g.237893572C>T						RYR2_ENST00000360064.6_Silent_p.V3615V|RYR2_ENST00000542537.1_Silent_p.V3601V	p.V3617V	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		77	11168	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	3617					Q15411|Q546N8|Q5T3P2	Silent	SNP	ENST00000366574.2	37	c.10851C>T	CCDS55691.1																																																																																				0.333	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		13	21	0	0	0	1	0	13	21					T	237893572	C	T	237893572	2	4	88	1	0	0	0	0	0	0	0	1	13769	813	29	3		3	RYR2	1	237893572	Silent	SNP	C	TCGA-EJ-7325-01B-11D-A32B-08	2388505	237893572	11357049	6	4536											
IL1A	3552	broad.mit.edu	37	chr2	113539246	113539246	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tggattggcttaaactcaacCgtctcttcttcagaaccttc	9	14	6	12	1	4	1	2	0	2	1	6	2	4	2	2	2	3	1	2	2	4	5	rs3783531	byFrequency	TCGA-EJ-7325-01B-11D-A32B-08	TCGA-EJ-7325-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57c67ced-cab5-4e66-a6b8-04c020bd4a3e	16fc1662-ec00-4bfc-abf6-ce18b7ae0f4d	g.chr2:113539246C>T	ENST00000263339.3	-	4	409	c.254G>A	c.(253-255)cGg>cAg	p.R85Q		NM_000575.3	NP_000566.3	P01583	IL1A_HUMAN	interleukin 1, alpha	85			R -> Q (in dbSNP:rs3783531). {ECO:0000269|Ref.10}.		apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|cellular response to heat (GO:0034605)|cytokine-mediated signaling pathway (GO:0019221)|ectopic germ cell programmed cell death (GO:0035234)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|fever generation (GO:0001660)|immune response (GO:0006955)|inflammatory response (GO:0006954)|negative regulation of cell proliferation (GO:0008285)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell division (GO:0051781)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of mitosis (GO:0045840)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation vascular endothelial growth factor production (GO:0010575)|response to copper ion (GO:0046688)	cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	copper ion binding (GO:0005507)|cytokine activity (GO:0005125)			breast(2)|large_intestine(1)|lung(9)	12					Rilonacept(DB06372)	TAAACTCAACCGTCTCTTCTT	0.453													C|||	3	0.000599042	0	0.0014	5008	,	,		23078	0		0.002	False		,,,				2504	0					ENST00000263339.3																			0				breast(2)|large_intestine(1)|lung(9)	12						c.(253-255)cGg>cAg		interleukin 1, alpha		C	GLN/ARG	2,4404	4.2+/-10.8	0,2,2201	230	211	217		254	4.9	0.1	2	dbSNP_107	217	23,8577	16.6+/-54.9	0,23,4277	yes	missense	IL1A	NM_000575.3	43	0,25,6478	TT,TC,CC		0.2674,0.0454,0.1922	probably-damaging	85/272	113539246	25,12981	2203	4300	6503	SO:0001583	missense	3552				anti-apoptosis|apoptosis|cell proliferation|cellular response to heat|cytokine-mediated signaling pathway|fever generation|immune response|negative regulation of cell proliferation|positive regulation of angiogenesis|positive regulation of cell division|positive regulation of cytokine secretion|positive regulation of interleukin-2 biosynthetic process|positive regulation of mitosis|positive regulation vascular endothelial growth factor production|response to copper ion	cytosol|extracellular space	copper ion binding|cytokine activity|interleukin-1 receptor binding	g.chr2:113539246C>T	M28983	CCDS2101.1	2q14	2014-01-30			ENSG00000115008	ENSG00000115008		"Interleukins and interleukin receptors", "Endogenous ligands"	5991	protein-coding gene	gene with protein product	"preinterleukin 1 alpha", "hematopoietin-1", "pro-interleukin-1-alpha"	147760		IL1		8188271, 2989698	Standard	NM_000575		Approved	IL1F1, IL-1A, IL1-ALPHA	uc002tig.3	P01583	OTTHUMG00000131315	ENST00000263339.3:c.254G>A	2.37:g.113539246C>T	ENSP00000263339:p.Arg85Gln						p.R85Q	NM_000575.3	NP_000566.3	P01583	IL1A_HUMAN			4	409	-			85		R -> Q (in dbSNP:rs3783531).			Q53QF9|Q7RU02	Missense_Mutation	SNP	ENST00000263339.3	37	c.254G>A	CCDS2101.1	2	9.157509157509158E-4	0	0.0	1	0.0027624309392265192	0	0.0	1	0.0013192612137203166	C	19.02	3.745767	0.69418	4.54E-4	0.002674	ENSG00000115008	ENST00000263339	T	0.47177	0.85	5.78	4.88	0.63580	Interleukin-1 propeptide (1);	0.000000	0.52532	D	0.000061	T	0.66742	0.2820	M	0.80847	2.515	0.09310	N	1	D	0.89917	1.0	D	0.74348	0.983	T	0.60672	-0.7217	10	0.27082	T	0.32	-17.4428	12.36	0.55197	0.1687:0.8313:0.0:0.0	rs3783531;rs3783531	85	P01583	IL1A_HUMAN	Q	85	ENSP00000263339:R85Q	ENSP00000263339:R85Q	R	-	2	0	IL1A	113255717	0.053000	0.20554	0.081000	0.20488	0.602000	0.36980	3.439000	0.52878	1.543000	0.49345	0.655000	0.94253	CGG		0.453	IL1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254084.1	NM_000575		5	194	0	0	0	1	0	5	194					T	113539246	C	T	113539246	3	4	88	1	0	0	0	0	1	0	0	0	7650	652	23	2	577	2	IL1A	2	113539246	Missense_Mutation	SNP	C	TCGA-EJ-7325-01B-11D-A32B-08		113539246	129660127	7	4537											
LRRN1	57633	broad.mit.edu	37	chr3	3887021	3887021	+	Frame_Shift_Del	DEL	A	A	-																															tatctcactgatattcctggAaatgctttggtgggtctgga																										TCGA-EJ-7325-01B-11D-A32B-08	TCGA-EJ-7325-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57c67ced-cab5-4e66-a6b8-04c020bd4a3e	16fc1662-ec00-4bfc-abf6-ce18b7ae0f4d	g.chr3:3887021delA	ENST00000319331.3	+	2	1457	c.696delA	c.(694-696)ggafs	p.G232fs	SUMF1_ENST00000534863.1_Intron	NM_020873.5	NP_065924.3	Q6UXK5	LRRN1_HUMAN	leucine rich repeat neuronal 1	232						integral component of membrane (GO:0016021)				NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(1)|urinary_tract(2)	26				Epithelial(13;0.000886)|all cancers(10;0.0032)|OV - Ovarian serous cystadenocarcinoma(96;0.00608)|STAD - Stomach adenocarcinoma(44;0.0617)		ATATTCCTGGAAATGCTTTGG	0.408																																						ENST00000319331.3																			0				NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(1)|urinary_tract(2)	26						c.(694-696)ggfs		leucine rich repeat neuronal 1							110	117	115					3																	3887021		2203	4300	6503	SO:0001589	frameshift_variant	57633					integral to membrane		g.chr3:3887021delA	AB040930	CCDS33685.1	3p26.2	2013-01-11			ENSG00000175928	ENSG00000175928		"Immunoglobulin superfamily / I-set domain containing"	20980	protein-coding gene	gene with protein product	"fibronectin type III, immunoglobulin and leucine rich repeat domains 3"					10819331	Standard	NM_020873		Approved	FIGLER3	uc003bpt.4	Q6UXK5	OTTHUMG00000154934	ENST00000319331.3:c.696delA	3.37:g.3887021delA	ENSP00000314901:p.Gly232fs					SUMF1_ENST00000534863.1_Intron	p.G232fs	NM_020873.5	NP_065924.3	Q6UXK5	LRRN1_HUMAN		Epithelial(13;0.000886)|all cancers(10;0.0032)|OV - Ovarian serous cystadenocarcinoma(96;0.00608)|STAD - Stomach adenocarcinoma(44;0.0617)	2	1457	+			232					Q3LID5|Q8IYV5|Q9H8V1|Q9P231	Frame_Shift_Del	DEL	ENST00000319331.3	37	c.696delA	CCDS33685.1																																																																																				0.408	LRRN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337704.2	NM_020873		9	229						9	229	---	---	---	---	-	3887021	A	-	3887021	7	5	88	1	0	1	0	1	0	0	0	0	9034	233	9	0	698	0	LRRN1	3	3887021	Frame_Shift_Del	DEL	A	TCGA-EJ-7325-01B-11D-A32B-08		3887021	194135409	8	4538											
FANCD2	2177	broad.mit.edu	37	chr3	10107082	10107082	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tatttctccttctcagattgGtgtctccgctgtgcctggct	3	17	9	12	1	3	1	1	0	3	1	6	1	3	1	3	2	1	2	3	2	1	4			TCGA-EJ-7325-01B-11D-A32B-08	TCGA-EJ-7325-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57c67ced-cab5-4e66-a6b8-04c020bd4a3e	16fc1662-ec00-4bfc-abf6-ce18b7ae0f4d	g.chr3:10107082G>A	ENST00000419585.1	+	24	2334	c.2173G>A	c.(2173-2175)Gtg>Atg	p.V725M	FANCD2_ENST00000383806.1_Missense_Mutation_p.V725M|FANCD2_ENST00000287647.3_Missense_Mutation_p.V725M|FANCD2_ENST00000383807.1_Missense_Mutation_p.V725M			Q9BXW9	FACD2_HUMAN	Fanconi anemia, complementation group D2	725					DNA repair (GO:0006281)|gamete generation (GO:0007276)|response to gamma radiation (GO:0010332)|synapsis (GO:0007129)	condensed chromosome (GO:0000793)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA polymerase binding (GO:0070182)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	51				OV - Ovarian serous cystadenocarcinoma(96;0.148)		TCTCAGATTGGTGTCTCCGCT	0.438			"D, Mis, N, F"			"AML, leukemia"		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																													ENST00000287647.3			yes	Rec		Fanconi anaemia D2	3	3p26	2177	"D, Mis, N, F"	"Fanconi anemia, complementation group D2"			L		"AML, leukemia"			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	51						c.(2173-2175)Gtg>Atg	Involved in tolerance or repair of DNA crosslinks	Fanconi anemia, complementation group D2							153	150	151					3																	10107082		2203	4300	6503	SO:0001583	missense	2177	Fanconi Anemia	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	DNA repair|response to gamma radiation	nucleoplasm	protein binding	g.chr3:10107082G>A	AF340183	CCDS2595.1, CCDS33696.1	3p25.3	2014-09-17		2001-10-05	ENSG00000144554	ENSG00000144554		"Fanconi anemia, complementation groups"	3585	protein-coding gene	gene with protein product		613984		FACD, FANCD		7581463, 11239453, 18475298	Standard	XM_005264946		Approved	FAD, FA-D2	uc003buw.3	Q9BXW9	OTTHUMG00000128670	ENST00000419585.1:c.2173G>A	3.37:g.10107082G>A	ENSP00000398754:p.Val725Met					FANCD2_ENST00000383806.1_Missense_Mutation_p.V725M|FANCD2_ENST00000419585.1_Missense_Mutation_p.V725M|FANCD2_ENST00000383807.1_Missense_Mutation_p.V725M	p.V725M	NM_033084.3	NP_149075.2	Q9BXW9	FACD2_HUMAN		OV - Ovarian serous cystadenocarcinoma(96;0.148)	24	2266	+			725					Q2LA86|Q69YP9|Q6PJN7|Q9BQ06|Q9H9T9	Missense_Mutation	SNP	ENST00000419585.1	37	c.2173G>A	CCDS33696.1	.	.	.	.	.	.	.	.	.	.	G	15.24	2.774527	0.49786	.	.	ENSG00000144554	ENST00000287647;ENST00000383807;ENST00000383806;ENST00000419585	T;T;T;T	0.55234	0.53;0.53;0.53;0.53	5.53	2.67	0.31697	.	0.112095	0.64402	N	0.000011	T	0.48926	0.1527	L	0.52759	1.655	0.32209	N	0.576755	D;D	0.57257	0.979;0.979	P;P	0.49252	0.604;0.604	T	0.56938	-0.7896	10	0.44086	T	0.13	.	6.5565	0.22464	0.1699:0.1493:0.6809:0.0	.	725;725	Q9BXW9-2;Q9BXW9	.;FACD2_HUMAN	M	725	ENSP00000287647:V725M;ENSP00000373318:V725M;ENSP00000373317:V725M;ENSP00000398754:V725M	ENSP00000287647:V725M	V	+	1	0	FANCD2	10082082	1.000000	0.71417	0.948000	0.38648	0.481000	0.33189	3.479000	0.53165	0.269000	0.21961	0.585000	0.79938	GTG		0.438	FANCD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339873.1			28	56	0	0	0	1	0	28	56					A	10107082	G	A	10107082	3	1	88	1	0	0	0	0	1	0	0	0	5665	1261	44	3	2263	3	FANCD2	3	10107082	Missense_Mutation	SNP	G	TCGA-EJ-7325-01B-11D-A32B-08	6220061	10107082	187915348	9	4539											
PLXNA1	5361	broad.mit.edu	37	chr3	126748827	126748827	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggcacctggtgaagaaccacGaccacctggaccagcgtgag	11	4	13	13	2	0	3	0	2	0	1	0	5	0	4	5	3	2	1	5	3	2	0			TCGA-EJ-7325-01B-11D-A32B-08	TCGA-EJ-7325-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57c67ced-cab5-4e66-a6b8-04c020bd4a3e	16fc1662-ec00-4bfc-abf6-ce18b7ae0f4d	g.chr3:126748827G>A	ENST00000393409.2	+	27	4981	c.4981G>A	c.(4981-4983)Gac>Aac	p.D1661N	PLXNA1_ENST00000251772.4_Missense_Mutation_p.D1638N	NM_032242.3	NP_115618.3	Q9UIW2	PLXA1_HUMAN	plexin A1	1661					axon guidance (GO:0007411)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|multicellular organismal development (GO:0007275)|regulation of smooth muscle cell migration (GO:0014910)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	receptor activity (GO:0004872)|semaphorin receptor activity (GO:0017154)			breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67				GBM - Glioblastoma multiforme(114;0.155)		GAAGAACCACGACCACCTGGA	0.667																																						ENST00000251772.4																			0				breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67						c.(4912-4914)Gac>Aac		plexin A1							102	101	101					3																	126748827		2203	4300	6503	SO:0001583	missense	5361				axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity	g.chr3:126748827G>A	X87832	CCDS33847.1, CCDS33847.2	3q21.2	2006-12-19				ENSG00000114554		"Plexins"	9099	protein-coding gene	gene with protein product		601055		PLXN1		8570614	Standard	NM_032242		Approved	NOV	uc003ejg.3	Q9UIW2		ENST00000393409.2:c.4981G>A	3.37:g.126748827G>A	ENSP00000377061:p.Asp1661Asn					PLXNA1_ENST00000393409.2_Missense_Mutation_p.D1661N	p.D1638N			Q9UIW2	PLXA1_HUMAN		GBM - Glioblastoma multiforme(114;0.155)	27	4981	+			1661						Missense_Mutation	SNP	ENST00000393409.2	37	c.4912G>A	CCDS33847.2	.	.	.	.	.	.	.	.	.	.	G	21.8	4.206732	0.79127	.	.	ENSG00000114554	ENST00000393409;ENST00000251772	T;T	0.15139	2.45;2.45	3.71	3.71	0.42584	Plexin, cytoplasmic RasGAP domain (1);Rho GTPase activation protein (1);	0.000000	0.64402	D	0.000004	T	0.42877	0.1222	M	0.79614	2.46	0.80722	D	1	D;D	0.76494	0.998;0.999	D;D	0.72338	0.969;0.977	T	0.51787	-0.8661	10	0.87932	D	0	.	16.0183	0.80460	0.0:0.0:1.0:0.0	.	275;1661	Q6ZTY7;Q9UIW2	.;PLXA1_HUMAN	N	1661;1638	ENSP00000377061:D1661N;ENSP00000251772:D1638N	ENSP00000251772:D1638N	D	+	1	0	PLXNA1	128231517	1.000000	0.71417	1.000000	0.80357	0.404000	0.30871	9.572000	0.98179	2.069000	0.61940	0.313000	0.20887	GAC		0.667	PLXNA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356451.1	NM_032242		35	46	0	0	0	1	0	35	46					A	126748827	G	A	126748827	3	1	88	1	0	0	0	0	1	0	0	0	12119	1058	37	2	5087	2	PLXNA1	3	126748827	Missense_Mutation	SNP	G	TCGA-EJ-7325-01B-11D-A32B-08	116641745	126748827	71273603	10	4540											
APC	324	broad.mit.edu	37	chr5	112175907	112175907	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	caatgggaatgaaacagaatCagagcagcctaaagaatcaa	20	5	9	7	0	2	4	2	1	0	3	2	5	2	5	1	1	3	1	1	1	8	1			TCGA-EJ-7325-01B-11D-A32B-08	TCGA-EJ-7325-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57c67ced-cab5-4e66-a6b8-04c020bd4a3e	16fc1662-ec00-4bfc-abf6-ce18b7ae0f4d	g.chr5:112175907C>G	ENST00000457016.1	+	16	4996	c.4616C>G	c.(4615-4617)tCa>tGa	p.S1539*	APC_ENST00000257430.4_Nonsense_Mutation_p.S1539*|APC_ENST00000508376.2_Nonsense_Mutation_p.S1539*|CTC-554D6.1_ENST00000520401.1_Intron			P25054	APC_HUMAN	adenomatous polyposis coli	1539	Ser-rich.				anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|axis specification (GO:0009798)|axonogenesis (GO:0007409)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|canonical Wnt signaling pathway involved in positive regulation of apoptotic process (GO:0044337)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to DNA damage stimulus (GO:0006974)|chromosome organization (GO:0051276)|cytoplasmic microtubule organization (GO:0031122)|dorsal/ventral pattern formation (GO:0009953)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cytokinesis (GO:0000281)|mitotic spindle assembly checkpoint (GO:0007094)|muscle cell cellular homeostasis (GO:0046716)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of odontogenesis (GO:0042483)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell division (GO:0051781)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of pseudopodium assembly (GO:0031274)|protein complex assembly (GO:0006461)|proximal/distal pattern formation (GO:0009954)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|regulation of microtubule-based process (GO:0032886)|regulation of nitrogen compound metabolic process (GO:0051171)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoclast differentiation (GO:0045670)|retina development in camera-type eye (GO:0060041)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tight junction assembly (GO:0070830)	axonal growth cone (GO:0044295)|beta-catenin destruction complex (GO:0030877)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|kinetochore (GO:0000776)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|microtubule plus-end (GO:0035371)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)	beta-catenin binding (GO:0008013)|gamma-catenin binding (GO:0045295)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|protein kinase binding (GO:0019901)|protein kinase regulator activity (GO:0019887)	p.E1540fs*4(1)|p.K1192fs*3(1)|p.?(1)|p.S1539*(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		GAAACAGAATCAGAGCAGCCT	0.368		12	"D, Mis, N, F, S"		"colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"	"colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)																											NSCLC(107;854 1218 9699 17025 28335 47076 52975)|Esophageal Squamous(32;282 584 32991 36563 39392 49665 50115)	ENST00000457016.1		12	yes	Rec	yes	Adenomatous polyposis coli; Turcot syndrome	5	5q21	324	"D, Mis, N, F, S"	adenomatous polyposis of the colon gene			"E, M, O"		"colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"	"colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"		4	Substitution - Nonsense(1)|Unknown(1)|Insertion - Frameshift(1)|Deletion - Frameshift(1)	p.E1540fs*4(1)|p.K1192fs*3(1)|p.?(1)|p.S1539*(1)	small_intestine(1)|soft_tissue(1)|large_intestine(1)|skin(1)	NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261	GRCh37	CM970093	APC	M		c.(4615-4617)tCa>tGa		adenomatous polyposis coli							76	82	80					5																	112175907		2202	4300	6502	SO:0001587	stop_gained	324	Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome;Familial Infiltrative Mesenteric Fibromatosis;FAP, incl.: Gardner s., Attenuated FAP, Flat Adenoma s., Oldfield s,	canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly	adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction	beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity	g.chr5:112175907C>G	M74088	CCDS4107.1	5q21-q22	2014-09-17	2008-01-08		ENSG00000134982	ENSG00000134982		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "Armadillo repeat containing"	583	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 46"	611731	"adenomatosis polyposis coli"			1651563	Standard	NM_001127511		Approved	DP2, DP3, DP2.5, PPP1R46	uc003kpy.4	P25054	OTTHUMG00000128806	ENST00000457016.1:c.4616C>G	5.37:g.112175907C>G	ENSP00000413133:p.Ser1539*	TSP Lung(16;0.13)				CTC-554D6.1_ENST00000520401.1_Intron|APC_ENST00000257430.4_Nonsense_Mutation_p.S1539*|APC_ENST00000508376.2_Nonsense_Mutation_p.S1539*	p.S1539*			P25054	APC_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)	16	4996	+		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)	1539			Ser-rich.		D3DT03|Q15162|Q15163|Q93042	Nonsense_Mutation	SNP	ENST00000457016.1	37	c.4616C>G	CCDS4107.1	.	.	.	.	.	.	.	.	.	.	C	40	8.129016	0.98667	.	.	ENSG00000134982	ENST00000457016;ENST00000257430;ENST00000508376	.	.	.	6.16	4.37	0.52481	.	0.462405	0.23105	N	0.051878	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.2576	7.6338	0.28255	0.134:0.6846:0.1172:0.0642	.	.	.	.	X	1539	.	.	S	+	2	0	APC	112203806	0.981000	0.34729	0.990000	0.47175	0.570000	0.35934	2.225000	0.42954	0.907000	0.36646	0.650000	0.86243	TCA		0.368	APC-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250738.2	NM_000038		35	16	0	0	0	1	0	35	16					G	112175907	C	G	112175907	4	3	88	1	0	0	0	0	0	1	0	0	763	838	29	5	4674	5	APC	5	112175907	Nonsense_Mutation	SNP	C	TCGA-EJ-7325-01B-11D-A32B-08		112175907	68739353	11	4541											
DOCK2	1794	broad.mit.edu	37	chr5	169188601	169188601	+	Frame_Shift_Del	DEL	A	A	-																															gtacagtctatgaatgagatAgtccagagcaacctctttaa																										TCGA-EJ-7325-01B-11D-A32B-08	TCGA-EJ-7325-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57c67ced-cab5-4e66-a6b8-04c020bd4a3e	16fc1662-ec00-4bfc-abf6-ce18b7ae0f4d	g.chr5:169188601delA	ENST00000256935.8	+	25	2606	c.2526delA	c.(2524-2526)atafs	p.I842fs	DOCK2_ENST00000523351.1_3'UTR|DOCK2_ENST00000540750.1_5'UTR|DOCK2_ENST00000520908.1_Frame_Shift_Del_p.I334fs	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	842					actin cytoskeleton organization (GO:0030036)|alpha-beta T cell proliferation (GO:0046633)|chemotaxis (GO:0006935)|establishment of T cell polarity (GO:0001768)|immunological synapse formation (GO:0001771)|macropinocytosis (GO:0044351)|membrane raft polarization (GO:0001766)|myeloid dendritic cell activation involved in immune response (GO:0002277)|negative thymic T cell selection (GO:0045060)|positive regulation of phagocytosis (GO:0050766)|positive thymic T cell selection (GO:0045059)|regulation of defense response to virus by virus (GO:0050690)|small GTPase mediated signal transduction (GO:0007264)|viral process (GO:0016032)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rac GTPase activator activity (GO:0030675)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|T cell receptor binding (GO:0042608)			NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TGAATGAGATAGTCCAGAGCA	0.488																																						ENST00000256935.8																			0				NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160						c.(2524-2526)atfs		dedicator of cytokinesis 2							150	147	148					5																	169188601		2203	4300	6503	SO:0001589	frameshift_variant	1794				actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding	g.chr5:169188601delA	BC016996	CCDS4371.1	5q35.1	2008-02-05			ENSG00000134516	ENSG00000134516			2988	protein-coding gene	gene with protein product		603122	"dedicator of cyto-kinesis 2"				Standard	NM_004946		Approved	KIAA0209	uc003maf.3	Q92608	OTTHUMG00000130437	ENST00000256935.8:c.2526delA	5.37:g.169188601delA	ENSP00000256935:p.Ile842fs					DOCK2_ENST00000540750.1_5'UTR|DOCK2_ENST00000523351.1_3'UTR|DOCK2_ENST00000520908.1_Frame_Shift_Del_p.I334fs	p.I842fs	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		25	2606	+	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	842					Q2M3I0|Q96AK7	Frame_Shift_Del	DEL	ENST00000256935.8	37	c.2526delA	CCDS4371.1																																																																																				0.488	DOCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252828.2	NM_004946		65	111						65	111	---	---	---	---	-	169188601	A	-	169188601	7	5	88	1	0	1	0	1	0	0	0	0	4687	410	15	0	2624	0	DOCK2	5	169188601	Frame_Shift_Del	DEL	A	TCGA-EJ-7325-01B-11D-A32B-08	57012694	169188601	11726659	12	4542											
SLC44A4	80736	broad.mit.edu	37	chr6	31833774	31833774	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gcccagggccagtacccagtTaagggtccagaagagcccca	11	4	12	14	0	0	2	0	0	0	2	1	2	1	2	6	2	2	2	6	2	3	2			TCGA-EJ-7325-01B-11D-A32B-08	TCGA-EJ-7325-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57c67ced-cab5-4e66-a6b8-04c020bd4a3e	16fc1662-ec00-4bfc-abf6-ce18b7ae0f4d	g.chr6:31833774T>C	ENST00000229729.6	-	14	1383	c.1363A>G	c.(1363-1365)Aac>Gac	p.N455D	SLC44A4_ENST00000544672.1_Missense_Mutation_p.N379D|SLC44A4_ENST00000375562.4_Missense_Mutation_p.N413D	NM_025257.2	NP_079533.2	Q53GD3	CTL4_HUMAN	solute carrier family 44, member 4	455					acetylcholine biosynthetic process (GO:0008292)|acetylcholine secretion (GO:0061526)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|positive regulation of cell growth (GO:0030307)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(1)|urinary_tract(2)	35					Choline(DB00122)	AGTACCCAGTTAAGGGTCCAG	0.557																																						ENST00000544672.1																			0				NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(1)|urinary_tract(2)	35						c.(1135-1137)Aac>Gac		solute carrier family 44, member 4	Choline(DB00122)						73	73	73					6																	31833774		2203	4300	6503	SO:0001583	missense	80736					integral to membrane|plasma membrane	choline transmembrane transporter activity	g.chr6:31833774T>C	AF134726	CCDS4724.2, CCDS54989.1, CCDS54990.1	6p21.3	2014-02-17	2005-09-06	2005-09-06	ENSG00000204385	ENSG00000204385		"Solute carriers"	13941	protein-coding gene	gene with protein product		606107	"chromosome 6 open reading frame 29"	C6orf29		10677542, 15715662, 24379411	Standard	NM_025257		Approved	NG22, CTL4, FLJ14491, TPPT	uc010jti.3	Q53GD3	OTTHUMG00000031133	ENST00000229729.6:c.1363A>G	6.37:g.31833774T>C	ENSP00000229729:p.Asn455Asp					SLC44A4_ENST00000229729.6_Missense_Mutation_p.N455D|SLC44A4_ENST00000375562.4_Missense_Mutation_p.N413D	p.N379D	NM_001178045.1	NP_001171516.1	Q53GD3	CTL4_HUMAN			14	1431	-			455	LATSGQPQ -> PLPTQPATLG (in Ref. 4; AAD21813 and 5; BAB63296).				A2BED3|B0UXX8|B0UZY8|B4DU94|B4DWM2|E9PEK7|Q5JP84|Q5JQ93|Q658S8|Q6UX89|Q8TEW4|Q96C58|Q96K59|Q9Y332	Missense_Mutation	SNP	ENST00000229729.6	37	c.1135A>G	CCDS4724.2	.	.	.	.	.	.	.	.	.	.	T	20.2	3.947844	0.73787	.	.	ENSG00000204385	ENST00000229729;ENST00000375562;ENST00000544672	T;T;T	0.22945	1.93;1.93;1.93	5.21	5.21	0.72293	.	0.000000	0.85682	D	0.000000	T	0.49029	0.1533	M	0.90650	3.135	0.58432	D	0.999996	D	0.76494	0.999	D	0.81914	0.995	T	0.56902	-0.7902	10	0.44086	T	0.13	-18.5993	14.1883	0.65620	0.0:0.0:0.0:1.0	.	455	Q53GD3	CTL4_HUMAN	D	455;413;379	ENSP00000229729:N455D;ENSP00000364712:N413D;ENSP00000444109:N379D	ENSP00000229729:N455D	N	-	1	0	SLC44A4	31941753	1.000000	0.71417	0.996000	0.52242	0.998000	0.95712	7.740000	0.84986	2.186000	0.69663	0.533000	0.62120	AAC		0.557	SLC44A4-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076234.3			3	86	0	0	0	1	0	3	86					C	31833774	T	C	31833774	3	2	88	1	0	0	0	0	1	0	0	0	14638	1754	61	4	801	4	SLC44A4	6	31833774	Missense_Mutation	SNP	T	TCGA-EJ-7325-01B-11D-A32B-08		31833774	139281293	13	4543											
FAM83B	222584	broad.mit.edu	37	chr6	54806426	54806426	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	aagggcaggagatgcctctgCcccaagatttaacactgaac	13	7	10	11	0	1	3	0	1	1	2	1	4	1	3	3	2	4	1	3	2	4	2	rs147144028		TCGA-EJ-7325-01B-11D-A32B-08	TCGA-EJ-7325-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57c67ced-cab5-4e66-a6b8-04c020bd4a3e	16fc1662-ec00-4bfc-abf6-ce18b7ae0f4d	g.chr6:54806426C>A	ENST00000306858.7	+	5	2773	c.2657C>A	c.(2656-2658)gCc>gAc	p.A886D	RP3-523K23.2_ENST00000562834.1_RNA	NM_001010872.1	NP_001010872.1	Q5T0W9	FA83B_HUMAN	family with sequence similarity 83, member B	886										autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71	Lung NSC(77;0.0178)|Renal(3;0.122)					GATGCCTCTGCCCCAAGATTT	0.448																																						ENST00000306858.7																			0				autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71						c.(2656-2658)gCc>gAc		family with sequence similarity 83, member B							74	71	72					6																	54806426		2203	4300	6503	SO:0001583	missense	222584							g.chr6:54806426C>A	AK055204	CCDS34479.1	6p12.1	2014-03-13	2006-03-23	2006-03-23	ENSG00000168143	ENSG00000168143			21357	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 143"	C6orf143		22886302	Standard	NM_001010872		Approved	FLJ30642	uc003pck.4	Q5T0W9	OTTHUMG00000014899	ENST00000306858.7:c.2657C>A	6.37:g.54806426C>A	ENSP00000304078:p.Ala886Asp						p.A886D	NM_001010872.1	NP_001010872.1	Q5T0W9	FA83B_HUMAN			5	2773	+	Lung NSC(77;0.0178)|Renal(3;0.122)		886					Q2M1P3|Q96DQ2	Missense_Mutation	SNP	ENST00000306858.7	37	c.2657C>A	CCDS34479.1	.	.	.	.	.	.	.	.	.	.	C	17.86	3.493673	0.64186	.	.	ENSG00000168143	ENST00000306858	T	0.32753	1.44	5.63	4.76	0.60689	.	0.156215	0.44285	D	0.000467	T	0.30854	0.0778	M	0.67953	2.075	0.45378	D	0.998367	D	0.56035	0.974	P	0.49752	0.621	T	0.19289	-1.0310	10	0.66056	D	0.02	-9.7126	14.5184	0.67835	0.0:0.9296:0.0:0.0704	.	886	Q5T0W9	FA83B_HUMAN	D	886	ENSP00000304078:A886D	ENSP00000304078:A886D	A	+	2	0	FAM83B	54914385	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	4.195000	0.58400	1.387000	0.46486	0.655000	0.94253	GCC		0.448	FAM83B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040994.1	XM_294139		31	35	1	0	5.90632e-09	1	6.80122e-09	31	35					A	54806426	C	A	54806426	3	1	88	1	0	0	0	0	1	0	0	0	5634	739	26	5	2671	5	FAM83B	6	54806426	Missense_Mutation	SNP	C	TCGA-EJ-7325-01B-11D-A32B-08	22972652	54806426	116308641	14	4544											
TFB1M	51106	broad.mit.edu	37	chr6	155632395	155632395	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cgtcggcattaagaatagatCttgtgattccccctggccca	9	11	9	12	2	1	3	0	1	1	2	3	3	2	3	3	2	0	1	3	2	3	4			TCGA-EJ-7325-01B-11D-A32B-08	TCGA-EJ-7325-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57c67ced-cab5-4e66-a6b8-04c020bd4a3e	16fc1662-ec00-4bfc-abf6-ce18b7ae0f4d	g.chr6:155632395C>G	ENST00000367166.4	-	2	267	c.212G>C	c.(211-213)aGa>aCa	p.R71T	TFB1M_ENST00000480390.1_5'UTR	NM_016020.3	NP_057104.2	Q8WVM0	TFB1M_HUMAN	transcription factor B1, mitochondrial	71					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	mitochondrial nucleoid (GO:0042645)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|rRNA (adenine-N6,N6-)-dimethyltransferase activity (GO:0000179)			lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;1.48e-12)|BRCA - Breast invasive adenocarcinoma(81;0.0131)		AAGAATAGATCTTGTGATTCC	0.428																																						ENST00000367166.4																			0				lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						c.(211-213)aGa>aCa		transcription factor B1, mitochondrial							110	104	106					6																	155632395		2203	4300	6503	SO:0001583	missense	51106				regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrial nucleoid	DNA binding|protein binding|rRNA (adenine-N6,N6-)-dimethyltransferase activity	g.chr6:155632395C>G	AF151833	CCDS5248.1	6q25.1-q25.3	2011-01-28			ENSG00000029639	ENSG00000029639			17037	protein-coding gene	gene with protein product	"dimethyladenosine transferase 1, mitochondrial"	607033				10810093, 11809803	Standard	NM_016020		Approved	mtTFB, CGI-75	uc003qqj.4	Q8WVM0	OTTHUMG00000015881	ENST00000367166.4:c.212G>C	6.37:g.155632395C>G	ENSP00000356134:p.Arg71Thr					TFB1M_ENST00000480390.1_5'UTR	p.R71T	NM_016020.3	NP_057104.2	Q8WVM0	TFB1M_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;1.48e-12)|BRCA - Breast invasive adenocarcinoma(81;0.0131)	2	267	-		Ovarian(120;0.196)	71					Q05DR0|Q9Y384	Missense_Mutation	SNP	ENST00000367166.4	37	c.212G>C	CCDS5248.1	.	.	.	.	.	.	.	.	.	.	C	32	5.112765	0.94339	.	.	ENSG00000029639	ENST00000367166	T	0.28255	1.62	5.96	5.96	0.96718	Ribosomal RNA adenine methylase transferase, conserved site (1);Ribosomal RNA adenine methylase transferase, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.58991	0.2161	M	0.87827	2.91	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.64110	-0.6484	10	0.87932	D	0	-32.3943	20.017	0.97481	0.0:1.0:0.0:0.0	.	71	Q8WVM0	TFB1M_HUMAN	T	71	ENSP00000356134:R71T	ENSP00000356134:R71T	R	-	2	0	TFB1M	155674087	1.000000	0.71417	0.976000	0.42696	0.859000	0.49053	7.154000	0.77437	2.832000	0.97577	0.655000	0.94253	AGA		0.428	TFB1M-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042809.1			33	47	0	0	0	1	0	33	47					G	155632395	C	G	155632395	3	3	88	1	0	0	0	0	1	0	0	0	15790	913	32	5	852	5	TFB1M	6	155632395	Missense_Mutation	SNP	C	TCGA-EJ-7325-01B-11D-A32B-08	100825969	155632395	15482672	15	4545											
PARK2	5071	broad.mit.edu	37	chr6	162622178	162622178	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cttacctgggtcaaggtgagCgttgcctgcctgcaggtgct	5	11	14	11	1	1	1	1	1	0	0	1	1	1	1	3	3	6	3	3	3	2	2			TCGA-EJ-7325-01B-11D-A32B-08	TCGA-EJ-7325-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57c67ced-cab5-4e66-a6b8-04c020bd4a3e	16fc1662-ec00-4bfc-abf6-ce18b7ae0f4d	g.chr6:162622178C>T	ENST00000366898.1	-	4	621	c.519G>A	c.(517-519)acG>acA	p.T173T	PARK2_ENST00000338468.3_Intron|PARK2_ENST00000366897.1_Silent_p.T173T|PARK2_ENST00000366894.1_5'UTR|PARK2_ENST00000366892.1_Silent_p.T173T|PARK2_ENST00000366896.1_Intron	NM_004562.2	NP_004553.2	O60260	PRKN2_HUMAN	parkin RBR E3 ubiquitin protein ligase	173					adult locomotory behavior (GO:0008344)|aggresome assembly (GO:0070842)|cell death (GO:0008219)|cellular protein catabolic process (GO:0044257)|cellular response to dopamine (GO:1903351)|cellular response to manganese ion (GO:0071287)|cellular response to toxic substance (GO:0097237)|cellular response to unfolded protein (GO:0034620)|central nervous system development (GO:0007417)|dopamine metabolic process (GO:0042417)|dopamine uptake involved in synaptic transmission (GO:0051583)|learning (GO:0007612)|mitochondrion degradation (GO:0000422)|negative regulation of actin filament bundle assembly (GO:0032232)|negative regulation of cell death (GO:0060548)|negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902236)|negative regulation of glucokinase activity (GO:0033132)|negative regulation of insulin secretion (GO:0046676)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of neuron death (GO:1901215)|negative regulation of oxidative stress-induced cell death (GO:1903202)|negative regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903377)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|norepinephrine metabolic process (GO:0042415)|positive regulation of DNA binding (GO:0043388)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of mitochondrial fusion (GO:0010636)|positive regulation of proteasomal protein catabolic process (GO:1901800)|positive regulation of protein linear polyubiquitination (GO:1902530)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor-mediated signaling pathway (GO:1903265)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein autoubiquitination (GO:0051865)|protein K27-linked ubiquitination (GO:0044314)|protein K29-linked ubiquitination (GO:0035519)|protein K48-linked ubiquitination (GO:0070936)|protein K6-linked ubiquitination (GO:0085020)|protein K63-linked ubiquitination (GO:0070534)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of autophagy (GO:0010506)|regulation of dopamine secretion (GO:0014059)|regulation of glucose metabolic process (GO:0010906)|regulation of lipid transport (GO:0032368)|regulation of mitochondrion degradation (GO:1903146)|regulation of mitochondrion organization (GO:0010821)|regulation of neurotransmitter secretion (GO:0046928)|regulation of reactive oxygen species metabolic process (GO:2000377)|regulation of synaptic vesicle transport (GO:1902803)|response to endoplasmic reticulum stress (GO:0034976)|startle response (GO:0001964)|synaptic transmission, glutamatergic (GO:0035249)|transcription, DNA-templated (GO:0006351)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|Lewy body (GO:0097413)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|Parkin-FBXW7-Cul1 ubiquitin ligase complex (GO:1990452)|perinuclear region of cytoplasm (GO:0048471)|ubiquitin ligase complex (GO:0000151)	chaperone binding (GO:0051087)|cullin family protein binding (GO:0097602)|F-box domain binding (GO:1990444)|G-protein coupled receptor binding (GO:0001664)|heat shock protein binding (GO:0031072)|Hsp70 protein binding (GO:0030544)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|ligase activity (GO:0016874)|PDZ domain binding (GO:0030165)|protein kinase binding (GO:0019901)|SH3 domain binding (GO:0017124)|ubiquitin binding (GO:0043130)|ubiquitin conjugating enzyme binding (GO:0031624)|ubiquitin protein ligase activity (GO:0061630)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|ubiquitin-specific protease binding (GO:1990381)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	39		all_cancers(1;8.13e-65)|all_epithelial(1;5.77e-64)|Colorectal(1;9.65e-15)|all_lung(1;1.66e-13)|Lung NSC(1;7.54e-11)|Melanoma(1;1.75e-09)|Breast(66;7.81e-05)|Ovarian(120;0.000981)|Prostate(117;0.0288)|Esophageal squamous(34;0.102)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0663)|all cancers(1;1.9e-63)|Epithelial(1;1.5e-59)|Colorectal(1;2.16e-23)|OV - Ovarian serous cystadenocarcinoma(65;3.53e-20)|COAD - Colon adenocarcinoma(1;2.11e-15)|STAD - Stomach adenocarcinoma(1;4.64e-07)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|READ - Rectum adenocarcinoma(1;2.95e-06)|GBM - Glioblastoma multiforme(2;7.23e-06)|Lung(1;0.00163)|KIRC - Kidney renal clear cell carcinoma(4;0.00371)|LUSC - Lung squamous cell carcinoma(1;0.00442)|Kidney(4;0.0046)		TCAAGGTGAGCGTTGCCTGCC	0.463																																						ENST00000366898.1																			0				breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	39						c.(517-519)acG>acA		parkin RBR E3 ubiquitin protein ligase							116	103	107					6																	162622178		2203	4300	6503	SO:0001819	synonymous_variant	5071				aggresome assembly|central nervous system development|mitochondrion degradation|negative regulation of actin filament bundle assembly|negative regulation of cell death|negative regulation of protein phosphorylation|negative regulation of release of cytochrome c from mitochondria|neuron death|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein autoubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein monoubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of autophagy|regulation of reactive oxygen species metabolic process	aggresome|cytosol|endoplasmic reticulum|Golgi apparatus|mitochondrion|nucleus|perinuclear region of cytoplasm	chaperone binding|PDZ domain binding|protein kinase binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr6:162622178C>T		CCDS5281.1, CCDS5282.1, CCDS5283.1	6q25.2-q27	2013-10-03	2013-10-03		ENSG00000185345	ENSG00000185345		"Parkinson disease"	8607	protein-coding gene	gene with protein product	"E3 ubiquitin ligase"	602544	"Parkinson disease (autosomal recessive, juvenile) 2, parkin", "parkinson protein 2, E3 ubiquitin protein ligase (parkin)"			9560156, 9570960	Standard	NM_004562		Approved	PDJ, AR-JP, parkin	uc003qtx.4	O60260	OTTHUMG00000015970	ENST00000366898.1:c.519G>A	6.37:g.162622178C>T						PARK2_ENST00000338468.3_Intron|PARK2_ENST00000366892.1_Silent_p.T173T|PARK2_ENST00000366894.1_5'UTR|PARK2_ENST00000366896.1_Intron|PARK2_ENST00000366897.1_Silent_p.T173T	p.T173T	NM_004562.2	NP_004553.2	O60260	PRKN2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;0.0663)|all cancers(1;1.9e-63)|Epithelial(1;1.5e-59)|Colorectal(1;2.16e-23)|OV - Ovarian serous cystadenocarcinoma(65;3.53e-20)|COAD - Colon adenocarcinoma(1;2.11e-15)|STAD - Stomach adenocarcinoma(1;4.64e-07)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|READ - Rectum adenocarcinoma(1;2.95e-06)|GBM - Glioblastoma multiforme(2;7.23e-06)|Lung(1;0.00163)|KIRC - Kidney renal clear cell carcinoma(4;0.00371)|LUSC - Lung squamous cell carcinoma(1;0.00442)|Kidney(4;0.0046)	4	621	-		all_cancers(1;8.13e-65)|all_epithelial(1;5.77e-64)|Colorectal(1;9.65e-15)|all_lung(1;1.66e-13)|Lung NSC(1;7.54e-11)|Melanoma(1;1.75e-09)|Breast(66;7.81e-05)|Ovarian(120;0.000981)|Prostate(117;0.0288)|Esophageal squamous(34;0.102)	173					A3FG77|A8K975|D3JZW7|D3K2X0|Q5TFV8|Q5VVX4|Q6Q2I6|Q8NI41|Q8NI43|Q8NI44|Q8WW07	Silent	SNP	ENST00000366898.1	37	c.519G>A	CCDS5281.1																																																																																				0.463	PARK2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042995.1			23	45	0	0	0	1	0	23	45					T	162622178	C	T	162622178	2	4	88	1	0	0	0	0	0	0	0	1	11449	755	27	1		1	PARK2	6	162622178	Silent	SNP	C	TCGA-EJ-7325-01B-11D-A32B-08	6989783	162622178	8492889	16	4546											
MUC17	140453	broad.mit.edu	37	chr7	100684108	100684108	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gacaccagcacacctgtgacCacttctactgaagcccattc	11	8	6	16	0	1	2	0	2	1	0	2	3	1	2	4	0	3	1	4	0	2	3			TCGA-EJ-7325-01B-11D-A32B-08	TCGA-EJ-7325-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57c67ced-cab5-4e66-a6b8-04c020bd4a3e	16fc1662-ec00-4bfc-abf6-ce18b7ae0f4d	g.chr7:100684108C>A	ENST00000306151.4	+	3	9475	c.9411C>A	c.(9409-9411)acC>acA	p.T3137T		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	3137	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CACCTGTGACCACTTCTACTG	0.493																																						ENST00000306151.4																			0				NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343						c.(9409-9411)acC>acA		mucin 17, cell surface associated							298	306	303					7																	100684108		2203	4300	6503	SO:0001819	synonymous_variant	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100684108C>A	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"Mucins"	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.9411C>A	7.37:g.100684108C>A							p.T3137T	NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN			3	9475	+	Lung NSC(181;0.136)|all_lung(186;0.182)		3137			59 X approximate tandem repeats.|Ser-rich.		O14761|Q685J2|Q8TDH7	Silent	SNP	ENST00000306151.4	37	c.9411C>A	CCDS34711.1																																																																																				0.493	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		7	462	1	0	0.00448238	1	0.00460353	7	462					A	100684108	C	A	100684108	2	1	88	1	0	0	0	0	0	0	0	1	9974	581	21	5		5	MUC17	7	100684108	Silent	SNP	C	TCGA-EJ-7325-01B-11D-A32B-08		100684108	58454555	17	4547											
CLCN1	1180	broad.mit.edu	37	chr7	143029831	143029831	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcccagttgatgccccgcgaAgccatcagtactttgtttga	8	12	9	12	2	1	2	1	2	0	0	2	3	2	2	4	0	3	3	4	0	2	4			TCGA-EJ-7325-01B-11D-A32B-08	TCGA-EJ-7325-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57c67ced-cab5-4e66-a6b8-04c020bd4a3e	16fc1662-ec00-4bfc-abf6-ce18b7ae0f4d	g.chr7:143029831A>C	ENST00000343257.2	+	12	1353	c.1266A>C	c.(1264-1266)gaA>gaC	p.E422D		NM_000083.2	NP_000074	P35523	CLCN1_HUMAN	chloride channel, voltage-sensitive 1	422					chloride transmembrane transport (GO:1902476)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|neuronal action potential propagation (GO:0019227)|regulation of anion transport (GO:0044070)|transmembrane transport (GO:0055085)|transport (GO:0006810)	chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)	adenyl nucleotide binding (GO:0030554)|chloride channel activity (GO:0005254)|voltage-gated chloride channel activity (GO:0005247)			breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	58	Melanoma(164;0.205)					TGCCCCGCGAAGCCATCAGTA	0.527																																						ENST00000343257.2																			0				breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	58						c.(1264-1266)gaA>gaC		chloride channel, voltage-sensitive 1							172	163	166					7																	143029831		2203	4300	6503	SO:0001583	missense	1180				muscle contraction	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity	g.chr7:143029831A>C	Z25884	CCDS5881.1	7q12	2012-09-26	2012-02-23		ENSG00000188037	ENSG00000188037		"Ion channels / Chloride channels : Voltage-sensitive"	2019	protein-coding gene	gene with protein product	"Thomsen disease, autosomal dominant"	118425	"chloride channel 1, skeletal muscle"			1379744	Standard	NM_000083		Approved	CLC1, ClC-1	uc003wcr.1	P35523	OTTHUMG00000152695	ENST00000343257.2:c.1266A>C	7.37:g.143029831A>C	ENSP00000339867:p.Glu422Asp						p.E422D	NM_000083.2	NP_000074.2	P35523	CLCN1_HUMAN			12	1353	+	Melanoma(164;0.205)		422					A4D2H5|Q2M202	Missense_Mutation	SNP	ENST00000343257.2	37	c.1266A>C	CCDS5881.1	.	.	.	.	.	.	.	.	.	.	A	16.13	3.035299	0.54896	.	.	ENSG00000188037	ENST00000343257	D	0.93133	-3.17	5.36	2.97	0.34412	Chloride channel, core (2);	0.097447	0.64402	D	0.000001	D	0.94427	0.8207	L	0.58354	1.805	0.42968	D	0.994428	D	0.89917	1.0	D	0.75020	0.985	D	0.91805	0.5455	10	0.36615	T	0.2	.	8.3804	0.32468	0.7868:0.0:0.2132:0.0	.	422	P35523	CLCN1_HUMAN	D	422	ENSP00000339867:E422D	ENSP00000339867:E422D	E	+	3	2	CLCN1	142739953	1.000000	0.71417	0.997000	0.53966	0.531000	0.34715	4.256000	0.58810	0.433000	0.26313	-0.938000	0.02693	GAA		0.527	CLCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327420.1	NM_000083		73	92	0	0	0	1	0	73	92					C	143029831	A	C	143029831	3	2	88	1	0	0	0	0	1	0	0	0	3462	69	3	5	1312	5	CLCN1	7	143029831	Missense_Mutation	SNP	A	TCGA-EJ-7325-01B-11D-A32B-08	42345723	143029831	16108832	18	4548											
TRPA1	8989	broad.mit.edu	37	chr8	72967934	72967934	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cccttacctggctgcaaaatGcagaggtgatttcttatctt	9	14	8	10	0	2	2	0	1	2	1	2	2	2	2	2	2	3	3	2	2	4	4			TCGA-EJ-7325-01B-11D-A32B-08	TCGA-EJ-7325-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57c67ced-cab5-4e66-a6b8-04c020bd4a3e	16fc1662-ec00-4bfc-abf6-ce18b7ae0f4d	g.chr8:72967934G>T	ENST00000262209.4	-	11	1558	c.1351C>A	c.(1351-1353)Cat>Aat	p.H451N	RP11-383H13.1_ENST00000457356.4_3'UTR	NM_007332.2	NP_015628.2	O75762	TRPA1_HUMAN	transient receptor potential cation channel, subfamily A, member 1	451					calcium ion transmembrane transport (GO:0070588)|detection of chemical stimulus involved in sensory perception of pain (GO:0050968)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|response to cold (GO:0009409)|response to drug (GO:0042493)|response to hydrogen peroxide (GO:0042542)|response to pain (GO:0048265)|thermoception (GO:0050955)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|stereocilium bundle (GO:0032421)	calcium channel activity (GO:0005262)|channel activity (GO:0015267)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1)	98			Epithelial(68;0.223)		Menthol(DB00825)	GCTGCAAAATGCAGAGGTGAT	0.373																																						ENST00000262209.4																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1)	98						c.(1351-1353)Cat>Aat		transient receptor potential cation channel, subfamily A, member 1	Menthol(DB00825)						46	45	45					8																	72967934		2203	4299	6502	SO:0001583	missense	8989					integral to plasma membrane		g.chr8:72967934G>T	Y10601	CCDS34908.1	8q13	2013-01-10	2003-11-20	2003-11-20	ENSG00000104321	ENSG00000104321		"Voltage-gated ion channels / Transient receptor potential cation channels", "Ankyrin repeat domain containing"	497	protein-coding gene	gene with protein product		604775	"ankyrin-like with transmembrane domains 1"	ANKTM1		16382100	Standard	NM_007332		Approved		uc003xza.3	O75762	OTTHUMG00000164516	ENST00000262209.4:c.1351C>A	8.37:g.72967934G>T	ENSP00000262209:p.His451Asn					RP11-383H13.1_ENST00000457356.4_3'UTR	p.H451N	NM_007332.2	NP_015628.2	O75762	TRPA1_HUMAN	Epithelial(68;0.223)		11	1558	-			451					A6NIN6	Missense_Mutation	SNP	ENST00000262209.4	37	c.1351C>A	CCDS34908.1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.261431	0.80358	.	.	ENSG00000104321	ENST00000523582;ENST00000262209	T;T	0.71341	-0.56;-0.56	5.4	5.4	0.78164	Ankyrin repeat-containing domain (4);	0.000000	0.85682	D	0.000000	D	0.85124	0.5625	M	0.79475	2.455	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.86569	0.1846	10	0.72032	D	0.01	-23.9224	19.1513	0.93491	0.0:0.0:1.0:0.0	.	451	O75762	TRPA1_HUMAN	N	303;451	ENSP00000428151:H303N;ENSP00000262209:H451N	ENSP00000262209:H451N	H	-	1	0	TRPA1	73130488	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.604000	0.90877	2.521000	0.84997	0.650000	0.86243	CAT		0.373	TRPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379079.2	NM_007332		12	55	1	0	3.07112e-06	1	3.33436e-06	12	55					T	72967934	G	T	72967934	3	4	88	1	0	0	0	0	1	0	0	0	16574	1319	46	5	2076	5	TRPA1	8	72967934	Missense_Mutation	SNP	G	TCGA-EJ-7325-01B-11D-A32B-08		72967934	73396088	19	4549											
ZFPM2	23414	broad.mit.edu	37	chr8	106813675	106813675	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctcacgaaccagagaccagaGatacagcctacaacaaataa	19	4	6	12	1	1	2	1	0	0	2	1	5	1	2	3	0	5	0	3	0	6	3			TCGA-EJ-7325-01B-11D-A32B-08	TCGA-EJ-7325-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57c67ced-cab5-4e66-a6b8-04c020bd4a3e	16fc1662-ec00-4bfc-abf6-ce18b7ae0f4d	g.chr8:106813675G>A	ENST00000407775.2	+	8	1615	c.1365G>A	c.(1363-1365)gaG>gaA	p.E455E	RP11-152P17.2_ENST00000521622.1_RNA|RP11-152P17.2_ENST00000509144.2_RNA|ZFPM2_ENST00000517361.1_Silent_p.E323E|RP11-152P17.2_ENST00000520594.1_RNA|ZFPM2_ENST00000522296.1_3'UTR|RP11-152P17.2_ENST00000518932.1_RNA|RP11-152P17.2_ENST00000520433.1_RNA|ZFPM2_ENST00000520492.1_Silent_p.E323E|RP11-152P17.2_ENST00000524045.2_RNA|ZFPM2_ENST00000378472.4_Silent_p.E186E	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	zinc finger protein, FOG family member 2	455					blood coagulation (GO:0007596)|embryonic organ development (GO:0048568)|gonadal mesoderm development (GO:0007506)|in utero embryonic development (GO:0001701)|lung development (GO:0030324)|negative regulation of cell death (GO:0060548)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of female gonad development (GO:2000195)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract septum morphogenesis (GO:0003148)|positive regulation of male gonad development (GO:2000020)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|right ventricular cardiac muscle tissue morphogenesis (GO:0003221)|vasculogenesis (GO:0001570)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|nucleic acid binding transcription factor activity (GO:0001071)|RNA polymerase II transcription coactivator activity (GO:0001105)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			AGAGACCAGAGATACAGCCTA	0.443																																						ENST00000407775.2																			0				NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99						c.(1363-1365)gaG>gaA		zinc finger protein, FOG family member 2							65	70	69					8																	106813675		1876	4108	5984	SO:0001819	synonymous_variant	23414				blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding	g.chr8:106813675G>A	AF119334	CCDS47908.1	8q23	2013-01-10	2012-11-27		ENSG00000169946	ENSG00000169946		"Zinc fingers, C2H2-type", "Zinc fingers, C2HC-type containing"	16700	protein-coding gene	gene with protein product		603693	"zinc finger protein, multitype 2"			9927675, 10438528	Standard	NM_012082		Approved	FOG2, hFOG-2, ZNF89B, ZC2HC11B	uc003ymd.3	Q8WW38	OTTHUMG00000164818	ENST00000407775.2:c.1365G>A	8.37:g.106813675G>A						RP11-152P17.2_ENST00000521622.1_RNA|RP11-152P17.2_ENST00000509144.2_RNA|ZFPM2_ENST00000520492.1_Silent_p.E323E|ZFPM2_ENST00000517361.1_Silent_p.E323E|RP11-152P17.2_ENST00000520594.1_RNA|RP11-152P17.2_ENST00000518932.1_RNA|ZFPM2_ENST00000522296.1_3'UTR|RP11-152P17.2_ENST00000520433.1_RNA|RP11-152P17.2_ENST00000524045.2_RNA|ZFPM2_ENST00000378472.4_Silent_p.E186E	p.E455E	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)		8	1615	+			455					Q32MA6|Q9NPL7|Q9NPS4|Q9UNI5	Silent	SNP	ENST00000407775.2	37	c.1365G>A	CCDS47908.1																																																																																				0.443	ZFPM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380614.1			19	31	0	0	0	1	0	19	31					A	106813675	G	A	106813675	2	1	88	1	0	0	0	0	0	0	0	1	17655	933	33	3		3	ZFPM2	8	106813675	Silent	SNP	G	TCGA-EJ-7325-01B-11D-A32B-08	33845741	106813675	39550347	20	4550											
C9orf98	158067	broad.mit.edu	37	chr9	135698626	135698626	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tatttctgggccaggagggcGgcctgcagacttttcccact	6	11	12	12	1	1	1	0	0	1	1	2	2	2	2	3	4	1	1	3	4	1	4	rs199788199		TCGA-EJ-7325-01B-11D-A32B-08	TCGA-EJ-7325-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57c67ced-cab5-4e66-a6b8-04c020bd4a3e	16fc1662-ec00-4bfc-abf6-ce18b7ae0f4d	g.chr9:135698626G>T	ENST00000298545.3	-	9	1376	c.855C>A	c.(853-855)gcC>gcA	p.A285A	AK8_ENST00000477396.1_5'UTR	NM_152572.2	NP_689785.1	Q96MA6	KAD8_HUMAN	adenylate kinase 8	285	Adenylate kinase 2.				nucleoside diphosphate phosphorylation (GO:0006165)|nucleoside triphosphate biosynthetic process (GO:0009142)|ventricular system development (GO:0021591)	cytoplasm (GO:0005737)	adenylate kinase activity (GO:0004017)|ATP binding (GO:0005524)|cytidylate kinase activity (GO:0004127)|nucleoside diphosphate kinase activity (GO:0004550)			NS(1)|kidney(2)|large_intestine(4)|lung(11)|pancreas(2)|prostate(1)|urinary_tract(2)	23						CCAGGAGGGCGGCCTGCAGAC	0.627																																						ENST00000298545.3																			0				NS(1)|kidney(2)|large_intestine(4)|lung(11)|pancreas(2)|prostate(1)|urinary_tract(2)	23						c.(853-855)gcC>gcA		adenylate kinase 8							101	109	106					9																	135698626		2203	4300	6503	SO:0001819	synonymous_variant	158067					cytosol	adenylate kinase activity|ATP binding|cytidylate kinase activity	g.chr9:135698626G>T	AK093446	CCDS6954.1	9q34.13	2013-04-29	2010-12-07	2010-12-07	ENSG00000165695	ENSG00000165695	2.7.4.3	"Adenylate kinases"	26526	protein-coding gene	gene with protein product		615365	"chromosome 9 open reading frame 98"	C9orf98		21080915	Standard	NM_152572		Approved	FLJ32704	uc004cbu.1	Q96MA6	OTTHUMG00000021009	ENST00000298545.3:c.855C>A	9.37:g.135698626G>T						AK8_ENST00000477396.1_5'UTR	p.A285A	NM_152572.2	NP_689785.1	Q96MA6	KAD8_HUMAN			9	1376	-			285			Adenylate kinase.		A8K821|Q8N9W9	Silent	SNP	ENST00000298545.3	37	c.855C>A	CCDS6954.1																																																																																				0.627	AK8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055413.1	NM_152572		4	127	1	0	0.150653	1	0.150653	4	127					T	135698626	G	T	135698626	2	4	88	1	0	0	0	0	0	0	0	1	2509	1103	39	5		5	C9orf98	9	135698626	Silent	SNP	G	TCGA-EJ-7325-01B-11D-A32B-08		135698626	5514805	21	4551											
YME1L1	10730	broad.mit.edu	37	chr10	27412531	27412531	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acaaacatctcatcaaattcGgatccagaagcataataaaa	20	8	4	9	1	2	1	2	0	1	1	5	2	3	2	1	1	2	1	1	1	6	3	rs368632098		TCGA-EJ-7325-01B-11D-A32B-08	TCGA-EJ-7325-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57c67ced-cab5-4e66-a6b8-04c020bd4a3e	16fc1662-ec00-4bfc-abf6-ce18b7ae0f4d	g.chr10:27412531G>A	ENST00000326799.3	-	11	1366	c.1218C>T	c.(1216-1218)tcC>tcT	p.S406S	YME1L1_ENST00000463270.1_5'UTR|YME1L1_ENST00000376016.3_Silent_p.S349S|YME1L1_ENST00000375972.3_Silent_p.S316S	NM_139312.2	NP_647473.1	Q96TA2	YMEL1_HUMAN	YME1-like 1 ATPase	406					cell proliferation (GO:0008283)|misfolded or incompletely synthesized protein catabolic process (GO:0006515)|mitochondrion organization (GO:0007005)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	23						CATCAAATTCGGATCCAGAAG	0.438													G|||	1	0.000199681	8e-04	0	5008	,	,		10381	0		0	False		,,,				2504	0					ENST00000326799.3																			0				breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	23						c.(1216-1218)tcC>tcT		YME1-like 1 ATPase		G	,	1,4405	2.1+/-5.4	0,1,2202	123	127	125		1047,1218	2.4	1	10		125	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	YME1L1	NM_014263.2,NM_139312.1	,	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	,	349/717,406/774	27412531	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	10730				protein catabolic process|proteolysis	membrane|mitochondrion	ATP binding|metal ion binding|metalloendopeptidase activity|nucleoside-triphosphatase activity	g.chr10:27412531G>A	AJ132637	CCDS7151.1, CCDS7152.1, CCDS58072.1	10p14	2013-06-10	2013-06-10		ENSG00000136758	ENSG00000136758		"ATPases / AAA-type"	12843	protein-coding gene	gene with protein product		607472	"YME1 (S.cerevisiae)-like 1", "YME1-like 1 (S. cerevisiae)"			22262461	Standard	NM_139312		Approved		uc001itj.3	Q96TA2	OTTHUMG00000017853	ENST00000326799.3:c.1218C>T	10.37:g.27412531G>A						YME1L1_ENST00000463270.1_5'UTR|YME1L1_ENST00000376016.3_Silent_p.S349S|YME1L1_ENST00000375972.3_Silent_p.S316S	p.S406S	NM_139312.2	NP_647473.1	Q96TA2	YMEL1_HUMAN			11	1366	-			406					B4DNM1|D3DRV8|D3DRV9|Q5T8D9|Q9H1Q0|Q9UMR9	Silent	SNP	ENST00000326799.3	37	c.1218C>T	CCDS7152.1																																																																																				0.438	YME1L1-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000047306.1	NM_139312		48	88	0	0	0	1	0	48	88					A	27412531	G	A	27412531	2	1	88	1	0	0	0	0	0	0	0	1	17484	1103	39	2		2	YME1L1	10	27412531	Silent	SNP	G	TCGA-EJ-7325-01B-11D-A32B-08		27412531	108122216	22	4552											
ARHGAP32	9743	broad.mit.edu	37	chr11	128844792	128844792	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tctcattgtcatgaggcagaTtatcataggagttacagcgg	11	12	11	7	1	3	2	3	1	1	1	4	3	3	3	0	3	2	2	0	3	3	4			TCGA-EJ-7325-01B-11D-A32B-08	TCGA-EJ-7325-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57c67ced-cab5-4e66-a6b8-04c020bd4a3e	16fc1662-ec00-4bfc-abf6-ce18b7ae0f4d	g.chr11:128844792T>C	ENST00000310343.9	-	20	2257	c.2258A>G	c.(2257-2259)aAt>aGt	p.N753S	ARHGAP32_ENST00000524655.1_Missense_Mutation_p.N679S|ARHGAP32_ENST00000392657.3_Missense_Mutation_p.N404S|ARHGAP32_ENST00000527272.1_Missense_Mutation_p.N404S	NM_001142685.1	NP_001136157.1	A7KAX9	RHG32_HUMAN	Rho GTPase activating protein 32	753					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cell projection (GO:0042995)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|postsynaptic membrane (GO:0045211)	GTPase activator activity (GO:0005096)|phosphatidylinositol binding (GO:0035091)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(28)|ovary(3)|prostate(6)|urinary_tract(3)	60						ATGAGGCAGATTATCATAGGA	0.498																																						ENST00000310343.9																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(28)|ovary(3)|prostate(6)|urinary_tract(3)	60						c.(2257-2259)aAt>aGt		Rho GTPase activating protein 32							73	67	69					11																	128844792		2201	4297	6498	SO:0001583	missense	9743				cell communication|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell cortex|cell junction|cytosol|dendritic spine|endoplasmic reticulum membrane|endosome membrane|Golgi membrane|postsynaptic density|postsynaptic membrane	GTPase activator activity|phosphatidylinositol binding	g.chr11:128844792T>C	AB018255	CCDS31718.1, CCDS44769.1	11q24.3	2011-06-29			ENSG00000134909	ENSG00000134909		"Rho GTPase activating proteins"	17399	protein-coding gene	gene with protein product		608541				12446789, 12819203, 17663722	Standard	NM_014715		Approved	GRIT, KIAA0712, MGC1892, RICS, GC-GAP	uc009zcp.3	A7KAX9	OTTHUMG00000165774	ENST00000310343.9:c.2258A>G	11.37:g.128844792T>C	ENSP00000310561:p.Asn753Ser					ARHGAP32_ENST00000392657.3_Missense_Mutation_p.N404S|ARHGAP32_ENST00000527272.1_Missense_Mutation_p.N404S|ARHGAP32_ENST00000524655.1_Missense_Mutation_p.N679S	p.N753S	NM_001142685.1	NP_001136157.1	A7KAX9	RHG32_HUMAN			20	2257	-			753					I7H0B0|O94820|Q86YL6|Q8IUG4|Q9BWG3	Missense_Mutation	SNP	ENST00000310343.9	37	c.2258A>G	CCDS44769.1	.	.	.	.	.	.	.	.	.	.	T	9.782	1.175513	0.21704	.	.	ENSG00000134909	ENST00000310343;ENST00000392657;ENST00000524655;ENST00000457677;ENST00000527272	T;T;T;T	0.20738	2.05;2.05;2.05;2.05	5.59	5.59	0.84812	.	0.139168	0.64402	D	0.000008	T	0.17023	0.0409	N	0.20401	0.57	0.54753	D	0.999984	B;B	0.28605	0.217;0.217	B;B	0.34779	0.014;0.189	T	0.11494	-1.0585	10	0.18710	T	0.47	.	15.7614	0.78082	0.0:0.0:0.0:1.0	.	687;753	Q86T64;A7KAX9	.;RHG32_HUMAN	S	753;404;679;687;404	ENSP00000310561:N753S;ENSP00000376425:N404S;ENSP00000432468:N679S;ENSP00000432862:N404S	ENSP00000310561:N753S	N	-	2	0	ARHGAP32	128350002	1.000000	0.71417	0.501000	0.27601	0.749000	0.42624	7.429000	0.80309	2.125000	0.65367	0.528000	0.53228	AAT		0.498	ARHGAP32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386151.3	NM_014715		22	39	0	0	0	1	0	22	39					C	128844792	T	C	128844792	3	2	88	1	0	0	0	0	1	0	0	0	881	1493	52	4	4017	4	ARHGAP32	11	128844792	Missense_Mutation	SNP	T	TCGA-EJ-7325-01B-11D-A32B-08		128844792	6161724	23	4553											
DAO	1610	broad.mit.edu	37	chr12	109288095	109288095	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	actggggtatgggctggggcGctacaacgagaccccctgct	7	7	15	12	2	0	1	0	0	0	1	0	2	0	1	2	5	3	4	2	5	3	2	rs370764819		TCGA-EJ-7325-01B-11D-A32B-08	TCGA-EJ-7325-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57c67ced-cab5-4e66-a6b8-04c020bd4a3e	16fc1662-ec00-4bfc-abf6-ce18b7ae0f4d	g.chr12:109288095G>A	ENST00000228476.3	+	7	768	c.564G>A	c.(562-564)gcG>gcA	p.A188A	DAO_ENST00000551281.1_Silent_p.A122A	NM_001917.4	NP_001908.3	P14920	OXDA_HUMAN	D-amino-acid oxidase	188					cellular nitrogen compound metabolic process (GO:0034641)|D-alanine catabolic process (GO:0055130)|D-serine catabolic process (GO:0036088)|D-serine metabolic process (GO:0070178)|dopamine biosynthetic process (GO:0042416)|glyoxylate metabolic process (GO:0046487)|leucine metabolic process (GO:0006551)|proline catabolic process (GO:0006562)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	cofactor binding (GO:0048037)|D-amino-acid oxidase activity (GO:0003884)|FAD binding (GO:0071949)|protein dimerization activity (GO:0046983)|receptor binding (GO:0005102)			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|prostate(2)|skin(1)	26					Flavin adenine dinucleotide(DB03147)	GGGCTGGGGCGCTACAACGAG	0.572																																						ENST00000228476.3																			0				NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|prostate(2)|skin(1)	26						c.(562-564)gcG>gcA		D-amino-acid oxidase		G		0,4406		0,0,2203	70	55	60		564	-11	0	12		60	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	DAO	NM_001917.4		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		188/348	109288095	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	1610				glyoxylate metabolic process	peroxisomal matrix	binding|D-amino-acid oxidase activity	g.chr12:109288095G>A	D11370	CCDS9122.1	12q24.11	2013-09-20			ENSG00000110887	ENSG00000110887	1.4.3.3		2671	protein-coding gene	gene with protein product		124050				1356107, 8182053	Standard	NM_001917		Approved	DAMOX	uc001tnr.4	P14920	OTTHUMG00000169360	ENST00000228476.3:c.564G>A	12.37:g.109288095G>A						DAO_ENST00000551281.1_Silent_p.A122A	p.A188A	NM_001917.4	NP_001908.3	P14920	OXDA_HUMAN			7	768	+			188					B2R7I5|Q16758|Q8N6R2	Silent	SNP	ENST00000228476.3	37	c.564G>A	CCDS9122.1																																																																																				0.572	DAO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403682.1			6	15	0	0	0	1	0	6	15					A	109288095	G	A	109288095	2	1	88	1	0	0	0	0	0	0	0	1	4231	1074	38	1		1	DAO	12	109288095	Silent	SNP	G	TCGA-EJ-7325-01B-11D-A32B-08		109288095	24563800	24	4554											
PXN	5829	broad.mit.edu	37	chr12	120661542	120661542	+	Frame_Shift_Del	DEL	C	C	-																															tgtagacgtgctcctcctcaCccactcgggagcacggagag																								rs377641479		TCGA-EJ-7325-01B-11D-A32B-08	TCGA-EJ-7325-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57c67ced-cab5-4e66-a6b8-04c020bd4a3e	16fc1662-ec00-4bfc-abf6-ce18b7ae0f4d	g.chr12:120661542delC	ENST00000228307.7	-	3	476	c.335delG	c.(334-336)ggtfs	p.G112fs	PXN_ENST00000536957.1_Frame_Shift_Del_p.G110fs|PXN_ENST00000424649.2_Frame_Shift_Del_p.G112fs|PXN_ENST00000458477.2_5'UTR|PXN_ENST00000267257.7_Frame_Shift_Del_p.G112fs|PXN_ENST00000538144.1_5'UTR	NM_001080855.2	NP_001074324.1	P49023	PAXI_HUMAN	paxillin	112					activation of MAPK activity (GO:0000187)|branching morphogenesis of an epithelial tube (GO:0048754)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cellular component movement (GO:0006928)|cellular response to reactive oxygen species (GO:0034614)|cytoskeleton organization (GO:0007010)|epidermal growth factor receptor signaling pathway (GO:0007173)|focal adhesion assembly (GO:0048041)|growth hormone receptor signaling pathway (GO:0060396)|integrin-mediated signaling pathway (GO:0007229)|lamellipodium assembly (GO:0030032)|muscle contraction (GO:0006936)|peptidyl-tyrosine phosphorylation (GO:0018108)|regulation of cell shape (GO:0008360)|signal complex assembly (GO:0007172)|signal transduction (GO:0007165)|substrate adhesion-dependent cell spreading (GO:0034446)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|microtubule associated complex (GO:0005875)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	beta-catenin binding (GO:0008013)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			breast(1)|endometrium(5)|kidney(2)|large_intestine(1)|lung(5)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CTCCTCCTCACCCACTCGGGA	0.612																																						ENST00000536957.1																			0				breast(1)|endometrium(5)|kidney(2)|large_intestine(1)|lung(5)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(328-330)gtfs		paxillin							52	57	55					12																	120661542		2071	4207	6278	SO:0001589	frameshift_variant	5829				cell junction assembly|cell-matrix adhesion|cellular response to reactive oxygen species|epidermal growth factor receptor signaling pathway|growth hormone receptor signaling pathway|muscle contraction|signal complex assembly	cytoplasm|focal adhesion|lamellipodium|microtubule associated complex	beta-catenin binding|vinculin binding|zinc ion binding	g.chr12:120661542delC	U14588	CCDS44996.1, CCDS44997.1, CCDS44998.1, CCDS58281.1	12q24	2006-01-23			ENSG00000089159	ENSG00000089159			9718	protein-coding gene	gene with protein product		602505				7534286	Standard	NM_001080855		Approved		uc001txv.3	P49023	OTTHUMG00000169169	ENST00000228307.7:c.335delG	12.37:g.120661542delC	ENSP00000228307:p.Gly112fs					PXN_ENST00000424649.2_Frame_Shift_Del_p.G112fs|PXN_ENST00000267257.7_Frame_Shift_Del_p.G112fs|PXN_ENST00000458477.2_5'UTR|PXN_ENST00000228307.7_Frame_Shift_Del_p.G112fs|PXN_ENST00000538144.1_5'UTR	p.G110fs			P49023	PAXI_HUMAN			3	804	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		112					B2RAI3|B7ZMB4|O14970|O14971|O60360|Q5HYA4	Frame_Shift_Del	DEL	ENST00000228307.7	37	c.329delG	CCDS44997.1																																																																																				0.612	PXN-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000402679.4	NM_002859		2	4						2	4	---	---	---	---	-	120661542	C	-	120661542	7	5	88	1	0	1	0	1	0	0	0	0	12852	507	18	0	1480	0	PXN	12	120661542	Frame_Shift_Del	DEL	C	TCGA-EJ-7325-01B-11D-A32B-08	11373447	120661542	13190353	25	4555											
MMP17	4326	broad.mit.edu	37	chr12	132329952	132329952	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acctggacagcgtggacgccGtgtacgagcgcaccagcgac	9	4	14	14	6	0	0	0	0	0	0	0	4	0	2	3	2	4	2	3	2	1	1	rs374841041		TCGA-EJ-7325-01B-11D-A32B-08	TCGA-EJ-7325-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57c67ced-cab5-4e66-a6b8-04c020bd4a3e	16fc1662-ec00-4bfc-abf6-ce18b7ae0f4d	g.chr12:132329952G>A	ENST00000360564.1	+	8	1264	c.1162G>A	c.(1162-1164)Gtg>Atg	p.V388M	MMP17_ENST00000535291.1_Missense_Mutation_p.V304M|MMP17_ENST00000535004.1_5'UTR	NM_016155.4	NP_057239.4	Q9ULZ9	MMP17_HUMAN	matrix metallopeptidase 17 (membrane-inserted)	388					positive regulation of catalytic activity (GO:0043085)	anchored component of membrane (GO:0031225)|integral component of plasma membrane (GO:0005887)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|enzyme activator activity (GO:0008047)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(3)|lung(1)	5	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.82e-07)|Epithelial(86;1.51e-06)|all cancers(50;2.35e-05)	Marimastat(DB00786)	CGTGGACGCCGTGTACGAGCG	0.692																																						ENST00000360564.1																			0				endometrium(1)|large_intestine(3)|lung(1)	5						c.(1162-1164)Gtg>Atg		matrix metallopeptidase 17 (membrane-inserted)		G	MET/VAL	1,4405	2.1+/-5.4	0,1,2202	26	31	29		1162	4.6	1	12		29	0,8598		0,0,4299	no	missense	MMP17	NM_016155.4	21	0,1,6501	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	388/604	132329952	1,13003	2203	4299	6502	SO:0001583	missense	4326				proteolysis	anchored to membrane|integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding	g.chr12:132329952G>A	X89576	CCDS31927.1	12q24.3	2005-08-08	2005-08-08		ENSG00000198598	ENSG00000198598			7163	protein-coding gene	gene with protein product		602285	"matrix metalloproteinase 17 (membrane-inserted)"			9878265	Standard	NM_016155		Approved	MT4-MMP	uc001ujc.1	Q9ULZ9	OTTHUMG00000168050	ENST00000360564.1:c.1162G>A	12.37:g.132329952G>A	ENSP00000353767:p.Val388Met					MMP17_ENST00000535004.1_5'UTR|MMP17_ENST00000535291.1_Missense_Mutation_p.V304M	p.V388M	NM_016155.4	NP_057239.4	Q9ULZ9	MMP17_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;1.82e-07)|Epithelial(86;1.51e-06)|all cancers(50;2.35e-05)	8	1264	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)		388			Hemopexin-like 2.		Q14850	Missense_Mutation	SNP	ENST00000360564.1	37	c.1162G>A	CCDS31927.1	.	.	.	.	.	.	.	.	.	.	G	28.9	4.959733	0.92791	2.27E-4	0.0	ENSG00000198598	ENST00000360564;ENST00000535291;ENST00000534865;ENST00000542648	T;T;T;T	0.03496	3.91;3.91;3.91;3.91	4.58	4.58	0.56647	Hemopexin/matrixin (2);	0.000000	0.64402	D	0.000001	T	0.23330	0.0564	M	0.88105	2.93	0.80722	D	1	D	0.89917	1.0	D	0.75484	0.986	T	0.10894	-1.0610	10	0.72032	D	0.01	.	17.384	0.87411	0.0:0.0:1.0:0.0	.	388	Q9ULZ9	MMP17_HUMAN	M	388;304;229;18	ENSP00000353767:V388M;ENSP00000441106:V304M;ENSP00000442104:V229M;ENSP00000439542:V18M	ENSP00000353767:V388M	V	+	1	0	MMP17	130895905	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.638000	0.98445	2.094000	0.63399	0.591000	0.81541	GTG		0.692	MMP17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397757.1	NM_016155		10	9	0	0	0	1	0	10	9					A	132329952	G	A	132329952	3	1	88	1	0	0	0	0	1	0	0	0	9656	1145	40	1	1192	1	MMP17	12	132329952	Missense_Mutation	SNP	G	TCGA-EJ-7325-01B-11D-A32B-08	11668410	132329952	1521943	26	4556											
SLITRK5	26050	broad.mit.edu	37	chr13	88328681	88328681	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccagggtgcgccccacctcTcggcagccctctaaggactt	6	7	10	18	2	2	0	0	0	2	0	3	1	2	1	5	3	2	1	5	3	1	2			TCGA-EJ-7325-01B-11D-A32B-08	TCGA-EJ-7325-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57c67ced-cab5-4e66-a6b8-04c020bd4a3e	16fc1662-ec00-4bfc-abf6-ce18b7ae0f4d	g.chr13:88328681T>C	ENST00000325089.6	+	2	1257	c.1038T>C	c.(1036-1038)tcT>tcC	p.S346S	SLITRK5_ENST00000400028.3_Silent_p.S105S	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5	346					adult behavior (GO:0030534)|axonogenesis (GO:0007409)|cardiovascular system development (GO:0072358)|dendrite morphogenesis (GO:0048813)|grooming behavior (GO:0007625)|response to xenobiotic stimulus (GO:0009410)|skin development (GO:0043588)|striatum development (GO:0021756)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81	all_neural(89;0.101)|Medulloblastoma(90;0.163)					GCCCCACCTCTCGGCAGCCCT	0.587																																						ENST00000325089.6																			0				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81						c.(1036-1038)tcT>tcC		SLIT and NTRK-like family, member 5							60	64	62					13																	88328681		2203	4299	6502	SO:0001819	synonymous_variant	26050					integral to membrane		g.chr13:88328681T>C	AB020725	CCDS9465.1	13q31.1	2004-04-16	2004-01-08		ENSG00000165300	ENSG00000165300			20295	protein-coding gene	gene with protein product		609680	"leucine rich repeat containing 11"	LRRC11		10048485, 14557068	Standard	NM_015567		Approved	bA364G4.2, KIAA0918	uc001vln.3	O94991	OTTHUMG00000017167	ENST00000325089.6:c.1038T>C	13.37:g.88328681T>C						SLITRK5_ENST00000400028.3_Silent_p.S105S	p.S346S	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN			2	1257	+	all_neural(89;0.101)|Medulloblastoma(90;0.163)		346					B3KNB8|B4DSH5|Q5VT81	Silent	SNP	ENST00000325089.6	37	c.1038T>C	CCDS9465.1																																																																																				0.587	SLITRK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045416.3			43	59	0	0	0	1	0	43	59					C	88328681	T	C	88328681	2	2	88	1	0	0	0	0	0	0	0	1	14746	1538	54	4		4	SLITRK5	13	88328681	Silent	SNP	T	TCGA-EJ-7325-01B-11D-A32B-08		88328681	26841197	27	4557											
MRPL52	122704	broad.mit.edu	37	chr14	23299461	23299461	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gctcccagactggtcatatgCgggtaagcgctgatctggca	8	9	13	11	2	2	2	1	1	1	1	3	2	3	2	1	3	2	4	1	3	2	2			TCGA-EJ-7325-01B-11D-A32B-08	TCGA-EJ-7325-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57c67ced-cab5-4e66-a6b8-04c020bd4a3e	16fc1662-ec00-4bfc-abf6-ce18b7ae0f4d	g.chr14:23299461C>T	ENST00000355151.5	+	3	185	c.155C>T	c.(154-156)gCg>gTg	p.A52V	MRPL52_ENST00000556840.1_5'UTR|MRPL52_ENST00000397496.3_Missense_Mutation_p.A51V|MRPL52_ENST00000432849.3_Missense_Mutation_p.A51V|MRPL52_ENST00000461594.1_3'UTR|MRPL52_ENST00000397505.2_Missense_Mutation_p.A52V|MRPL52_ENST00000553711.1_5'UTR|MRPL52_ENST00000555536.1_5'UTR|MRPL52_ENST00000557221.1_Missense_Mutation_p.R2W|MRPL52_ENST00000555345.1_5'UTR|MRPL52_ENST00000311892.6_5'UTR	NM_178336.2|NM_180982.2|NM_181306.2	NP_848026.1|NP_851313.1|NP_851823.1	Q86TS9	RM52_HUMAN	mitochondrial ribosomal protein L52	52					translation (GO:0006412)	mitochondrial large ribosomal subunit (GO:0005762)	structural constituent of ribosome (GO:0003735)					all_cancers(95;9.47e-05)			GBM - Glioblastoma multiforme(265;0.00551)		TGGTCATATGCGGGTAAGCGC	0.602																																						ENST00000355151.5																			0											c.(154-156)gCg>gTg		mitochondrial ribosomal protein L52							52	62	58					14																	23299461		2203	4300	6503	SO:0001583	missense	122704				translation	mitochondrial large ribosomal subunit	structural constituent of ribosome	g.chr14:23299461C>T	AK000450	CCDS9575.1, CCDS9576.1, CCDS41917.1, CCDS41918.1	14q11.2	2012-09-13			ENSG00000172590	ENSG00000172590		"Mitochondrial ribosomal proteins / large subunits"	16655	protein-coding gene	gene with protein product		611856				11551941, 11943462	Standard	NM_178336		Approved		uc001wgw.4	Q86TS9	OTTHUMG00000028703	ENST00000355151.5:c.155C>T	14.37:g.23299461C>T	ENSP00000347277:p.Ala52Val					MRPL52_ENST00000432849.3_Missense_Mutation_p.A51V|MRPL52_ENST00000557221.1_Missense_Mutation_p.R2W|MRPL52_ENST00000556840.1_5'UTR|MRPL52_ENST00000311892.6_5'UTR|MRPL52_ENST00000555536.1_5'UTR|MRPL52_ENST00000553711.1_5'UTR|MRPL52_ENST00000555345.1_5'UTR|MRPL52_ENST00000461594.1_3'UTR|MRPL52_ENST00000397505.2_Missense_Mutation_p.A52V|MRPL52_ENST00000397496.3_Missense_Mutation_p.A51V	p.A52V	NM_178336.2|NM_180982.2|NM_181306.2	NP_848026.1|NP_851313.1|NP_851823.1	Q86TS9	RM52_HUMAN		GBM - Glioblastoma multiforme(265;0.00551)	3	185	+	all_cancers(95;9.47e-05)		52					A6NMQ8|A8MXK5|A8MYI6|G3XCN9|Q6NVH8	Missense_Mutation	SNP	ENST00000355151.5	37	c.155C>T	CCDS41917.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.68|18.68	3.675720|3.675720	0.67928|0.67928	.|.	.|.	ENSG00000172590|ENSG00000172590	ENST00000355151;ENST00000397496;ENST00000432849;ENST00000556465;ENST00000397505|ENST00000557221	T;T;T;T;T|T	0.25414|0.44881	1.8;1.8;1.8;1.8;1.8|0.91	5.29|5.29	4.4|4.4	0.53042|0.53042	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.42381|0.42381	0.1200|0.1200	L|L	0.42487|0.42487	1.325|1.325	0.80722|0.80722	D|D	1|1	B;D;P|.	0.67145|.	0.35;0.996;0.927|.	B;P;B|.	0.55508|.	0.067;0.777;0.279|.	T|T	0.21552|0.21552	-1.0242|-1.0242	10|6	0.48119|.	T|.	0.1|.	-13.6382|-13.6382	9.7828|9.7828	0.40658|0.40658	0.0:0.9078:0.0:0.0922|0.0:0.9078:0.0:0.0922	.|.	52;51;52|.	A8MXK5;G3XCN9;Q86TS9|.	.;.;RM52_HUMAN|.	V|W	52;51;51;51;52|2	ENSP00000347277:A52V;ENSP00000380633:A51V;ENSP00000406655:A51V;ENSP00000451832:A51V;ENSP00000380642:A52V|ENSP00000451436:R2W	ENSP00000310762:A52V|.	A|R	+|+	2|1	0|2	MRPL52|MRPL52	22369301|22369301	0.991000|0.991000	0.36638|0.36638	0.686000|0.686000	0.30086|0.30086	0.015000|0.015000	0.08874|0.08874	2.047000|2.047000	0.41269|0.41269	1.464000|1.464000	0.47987|0.47987	0.650000|0.650000	0.86243|0.86243	GCG|CGG		0.602	MRPL52-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000071657.4	NM_180982		4	107	0	0	0	1	0	4	107					T	23299461	C	T	23299461	3	4	88	1	0	0	0	0	1	0	0	0	9816	768	27	1	165	1	MRPL52	14	23299461	Missense_Mutation	SNP	C	TCGA-EJ-7325-01B-11D-A32B-08		23299461	84050079	28	4558											
PSMB6	5694	broad.mit.edu	37	chr17	4699584	4699584	+	Frame_Shift_Del	DEL	C	C	-																															ctgggaaagccgagaagtttCcactggggtgaggaaggaat																										TCGA-EJ-7325-01B-11D-A32B-08	TCGA-EJ-7325-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57c67ced-cab5-4e66-a6b8-04c020bd4a3e	16fc1662-ec00-4bfc-abf6-ce18b7ae0f4d	g.chr17:4699584delC	ENST00000270586.3	+	1	146	c.95delC	c.(94-96)tccfs	p.S32fs		NM_001270481.1|NM_002798.2	NP_001257410.1|NP_002789.1	P28072	PSB6_HUMAN	proteasome (prosome, macropain) subunit, beta type, 6	32					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome complex (GO:0000502)|proteasome core complex (GO:0005839)	endopeptidase activity (GO:0004175)|threonine-type endopeptidase activity (GO:0004298)			endometrium(3)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)	11						CGAGAAGTTTCCACTGGGGTG	0.607																																						ENST00000270586.3																			0				endometrium(3)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)	11						c.(94-96)tcfs		proteasome (prosome, macropain) subunit, beta type, 6							22	20	21					17																	4699584		2190	4287	6477	SO:0001589	frameshift_variant	5694				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome core complex	threonine-type endopeptidase activity	g.chr17:4699584delC	BC000835	CCDS11056.1, CCDS73944.1	17p13	2004-02-18			ENSG00000142507	ENSG00000142507		"Proteasome (prosome, macropain) subunits"	9543	protein-coding gene	gene with protein product		600307				8066462, 1888762	Standard	NM_002798		Approved	Y, DELTA	uc002fzb.4	P28072	OTTHUMG00000090777	ENST00000270586.3:c.95delC	17.37:g.4699584delC	ENSP00000270586:p.Ser32fs						p.S32fs	NM_001270481.1|NM_002798.2	NP_001257410.1|NP_002789.1	P28072	PSB6_HUMAN			1	146	+			32					Q96J55	Frame_Shift_Del	DEL	ENST00000270586.3	37	c.95delC	CCDS11056.1																																																																																				0.607	PSMB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207559.2	NM_002798		2	4						2	4	---	---	---	---	-	4699584	C	-	4699584	7	5	88	1	0	1	0	1	0	0	0	0	12681	855	30	0	97	0	PSMB6	17	4699584	Frame_Shift_Del	DEL	C	TCGA-EJ-7325-01B-11D-A32B-08		4699584	76495626	29	4559											
MYH8	4626	broad.mit.edu	37	chr17	10315826	10315826	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctttggccagagcacccaccGcattgtacaccttcacagat	10	9	7	15	1	1	2	1	0	0	2	1	2	1	2	4	1	2	3	4	1	1	4	rs150633264	byFrequency	TCGA-EJ-7325-01B-11D-A32B-08	TCGA-EJ-7325-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57c67ced-cab5-4e66-a6b8-04c020bd4a3e	16fc1662-ec00-4bfc-abf6-ce18b7ae0f4d	g.chr17:10315826G>A	ENST00000403437.2	-	14	1371	c.1277C>T	c.(1276-1278)gCg>gTg	p.A426V	CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000399342.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	426	Myosin motor.				ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|skeletal muscle contraction (GO:0003009)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|myosin light chain binding (GO:0032027)|structural constituent of muscle (GO:0008307)			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						AGCACCCACCGCATTGTACAC	0.498									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling				G|||	2	0.000399361	0	0	5008	,	,		19543	0		0	False		,,,				2504	0.002					ENST00000403437.2																			0				NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						c.(1276-1278)gCg>gTg		myosin, heavy chain 8, skeletal muscle, perinatal		G	VAL/ALA	1,4405	2.1+/-5.4	0,1,2202	316	280	292		1277	4.6	0.6	17	dbSNP_134	292	0,8600		0,0,4300	no	missense	MYH8	NM_002472.2	64	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	426/1938	10315826	1,13005	2203	4300	6503	SO:0001583	missense	4626	Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling	Familial Cancer Database	Carney Complex Variant	muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle	g.chr17:10315826G>A		CCDS11153.1	17p13.1	2013-09-19	2006-09-29		ENSG00000133020	ENSG00000133020		"Myosins / Myosin superfamily : Class II"	7578	protein-coding gene	gene with protein product		160741	"myosin, heavy polypeptide 8, skeletal muscle, perinatal"			2373371	Standard	NM_002472		Approved	MyHC-peri, MyHC-pn	uc002gmm.2	P13535	OTTHUMG00000130361	ENST00000403437.2:c.1277C>T	17.37:g.10315826G>A	ENSP00000384330:p.Ala426Val					CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA	p.A426V	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN			14	1371	-			426			Myosin head-like.		Q14910	Missense_Mutation	SNP	ENST00000403437.2	37	c.1277C>T	CCDS11153.1	.	.	.	.	.	.	.	.	.	.	G	14.63	2.593031	0.46214	2.27E-4	0.0	ENSG00000133020	ENST00000252173;ENST00000403437	D	0.89343	-2.5	4.6	4.6	0.57074	Myosin head, motor domain (2);	0.197053	0.24705	U	0.036262	D	0.89040	0.6602	M	0.66506	2.035	0.33565	D	0.597838	B	0.31817	0.341	B	0.38428	0.273	D	0.93101	0.6508	10	0.87932	D	0	.	13.4753	0.61306	0.0:0.0:0.8431:0.1569	.	426	P13535	MYH8_HUMAN	V	426	ENSP00000384330:A426V	ENSP00000252173:A426V	A	-	2	0	MYH8	10256551	0.997000	0.39634	0.643000	0.29450	0.303000	0.27691	7.653000	0.83643	2.391000	0.81399	0.650000	0.86243	GCG		0.498	MYH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252724.2	NM_002472		11	290	0	0	0	1	0	11	290					A	10315826	G	A	10315826	3	1	88	1	0	0	0	0	1	0	0	0	10041	1087	38	1	4644	1	MYH8	17	10315826	Missense_Mutation	SNP	G	TCGA-EJ-7325-01B-11D-A32B-08	5616242	10315826	70879384	30	4560											
KRTAP1-3	81850	broad.mit.edu	37	chr17	39190675	39190675	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcggcgtggtgcagctggcaGcaggttgggggtgtgcagct	4	9	20	8	2	0	0	0	0	0	0	1	0	0	0	0	6	5	7	0	6	0	1			TCGA-EJ-7325-01B-11D-A32B-08	TCGA-EJ-7325-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57c67ced-cab5-4e66-a6b8-04c020bd4a3e	16fc1662-ec00-4bfc-abf6-ce18b7ae0f4d	g.chr17:39190675G>T	ENST00000344363.5	-	1	432	c.399C>A	c.(397-399)tgC>tgA	p.C133*		NM_030966.1	NP_112228.1	Q8IUG1	KRA13_HUMAN	keratin associated protein 1-3	143						keratin filament (GO:0045095)	structural constituent of epidermis (GO:0030280)			cervix(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(6)	12		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			GCAGCTGGCAGCAGGTTGGGG	0.672																																						ENST00000344363.5																			0				cervix(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(6)	12						c.(397-399)tgC>tgA		keratin associated protein 1-3							27	34	31					17																	39190675		2083	4195	6278	SO:0001587	stop_gained	81850					extracellular region|keratin filament	structural constituent of epidermis	g.chr17:39190675G>T	AJ406927	CCDS42323.1	17q21.2	2013-06-20			ENSG00000221880	ENSG00000221880		"Keratin associated proteins"	16771	protein-coding gene	gene with protein product		608820				11279113	Standard	NM_030966		Approved	KAP1.3	uc002hvv.3	Q8IUG1	OTTHUMG00000133583	ENST00000344363.5:c.399C>A	17.37:g.39190675G>T	ENSP00000344420:p.Cys133*						p.C133*	NM_030966.1	NP_112228.1	Q8IUG1	KRA13_HUMAN	STAD - Stomach adenocarcinoma(17;0.000371)		1	432	-		Breast(137;0.000496)	143					Q07628|Q8IUG0|Q9BYS2	Nonsense_Mutation	SNP	ENST00000344363.5	37	c.399C>A	CCDS42323.1	.	.	.	.	.	.	.	.	.	.	G	25.1	4.601843	0.87055	.	.	ENSG00000221880	ENST00000344363	.	.	.	4.52	4.52	0.55395	.	.	.	.	.	.	.	.	.	.	.	0.58432	D	0.999999	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.4537	0.61187	0.0:0.0:1.0:0.0	.	.	.	.	X	133	.	ENSP00000344420:C133X	C	-	3	2	KRTAP1-3	36444201	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	2.823000	0.48081	2.435000	0.82474	0.643000	0.83706	TGC		0.672	KRTAP1-3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257687.1			11	25	1	0	3.86212e-05	1	4.07668e-05	11	25					T	39190675	G	T	39190675	4	4	88	1	0	0	0	0	0	1	0	0	8503	963	34	5	108	5	KRTAP1-3	17	39190675	Nonsense_Mutation	SNP	G	TCGA-EJ-7325-01B-11D-A32B-08	28874849	39190675	42004535	31	4561											
ITGA2B	3674	broad.mit.edu	37	chr17	42458348	42458348	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggacctgggagggacgtgacCtcagcccctcactctgaccc	7	6	12	16	1	3	2	2	2	1	0	3	5	3	5	5	3	1	0	5	3	0	0			TCGA-EJ-7325-01B-11D-A32B-08	TCGA-EJ-7325-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57c67ced-cab5-4e66-a6b8-04c020bd4a3e	16fc1662-ec00-4bfc-abf6-ce18b7ae0f4d	g.chr17:42458348C>A	ENST00000262407.5	-	13	1323	c.1292G>T	c.(1291-1293)aGg>aTg	p.R431M	ITGA2B_ENST00000353281.4_Missense_Mutation_p.R431M|ITGA2B_ENST00000377068.3_Missense_Mutation_p.R116M	NM_000419.3	NP_000410.2	P08514	ITA2B_HUMAN	integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41)	431					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of leukocyte migration (GO:0002687)	blood microparticle (GO:0072562)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)|platelet alpha granule membrane (GO:0031092)	extracellular matrix binding (GO:0050840)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)	p.R431M(1)		biliary_tract(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.191)	Abciximab(DB00054)|Tirofiban(DB00775)	GGGACGTGACCTCAGCCCCTC	0.617																																						ENST00000262407.5																			1	Substitution - Missense(1)	p.R431M(1)	endometrium(1)	biliary_tract(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						c.(1291-1293)aGg>aTg		integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41)	Tirofiban(DB00775)						79	72	74					17																	42458348		2203	4300	6503	SO:0001583	missense	3674				axon guidance|integrin-mediated signaling pathway|platelet activation|platelet degranulation	integrin complex|platelet alpha granule membrane	identical protein binding|receptor activity	g.chr17:42458348C>A		CCDS32665.1	17q21.32	2014-09-17	2006-02-22			ENSG00000005961		"CD molecules", "Integrins"	6138	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 93"	607759	"integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41B)"	GP2B			Standard	NM_000419		Approved	CD41B, CD41, PPP1R93	uc002igt.1	P08514		ENST00000262407.5:c.1292G>T	17.37:g.42458348C>A	ENSP00000262407:p.Arg431Met					ITGA2B_ENST00000377068.3_Missense_Mutation_p.R116M|ITGA2B_ENST00000353281.4_Missense_Mutation_p.R431M	p.R431M	NM_000419.3	NP_000410.2	P08514	ITA2B_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.191)	13	1323	-		Prostate(33;0.0181)	431					B2RCY8|O95366|Q14443|Q17R67	Missense_Mutation	SNP	ENST00000262407.5	37	c.1292G>T	CCDS32665.1	.	.	.	.	.	.	.	.	.	.	C	10.48	1.361536	0.24684	.	.	ENSG00000005961	ENST00000262407;ENST00000353281;ENST00000377068	T;T;T	0.72051	-0.62;-0.62;-0.62	5.49	2.39	0.29439	.	0.564155	0.14762	N	0.299897	T	0.53722	0.1814	L	0.33189	0.99	0.09310	N	0.999995	B	0.25272	0.122	B	0.04013	0.001	T	0.43734	-0.9373	10	0.48119	T	0.1	.	5.4387	0.16496	0.0:0.6044:0.1453:0.2503	.	431	P08514	ITA2B_HUMAN	M	431;431;116	ENSP00000262407:R431M;ENSP00000340536:R431M;ENSP00000366268:R116M	ENSP00000262407:R431M	R	-	2	0	ITGA2B	39813874	0.000000	0.05858	0.344000	0.25628	0.639000	0.38242	-2.046000	0.01409	0.407000	0.25591	0.655000	0.94253	AGG		0.617	ITGA2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439823.1			21	20	1	0	1.87028e-06	1	2.09032e-06	21	20					A	42458348	C	A	42458348	3	1	88	1	0	0	0	0	1	0	0	0	7876	681	24	5	1899	5	ITGA2B	17	42458348	Missense_Mutation	SNP	C	TCGA-EJ-7325-01B-11D-A32B-08	3267673	42458348	38736862	32	4562											
BCAM	4059	broad.mit.edu	37	chr19	45324017	45324017	+	Frame_Shift_Del	DEL	G	G	-																															cggagcaaccagagcagaccGgccttctcatgggaggtgcc																								rs574102519	byFrequency	TCGA-EJ-7325-01B-11D-A32B-08	TCGA-EJ-7325-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57c67ced-cab5-4e66-a6b8-04c020bd4a3e	16fc1662-ec00-4bfc-abf6-ce18b7ae0f4d	g.chr19:45324017delG	ENST00000270233.6	+	14	1841	c.1819delG	c.(1819-1821)ggcfs	p.G607fs		NM_001013257.2|NM_005581.4	NP_001013275.1|NP_005572.2	P50895	BCAM_HUMAN	basal cell adhesion molecule (Lutheran blood group)	607					cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	laminin binding (GO:0043236)|laminin receptor activity (GO:0005055)|transmembrane signaling receptor activity (GO:0004888)			central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	22	Lung NSC(12;0.000789)|all_lung(12;0.00218)	Ovarian(192;0.0728)|all_neural(266;0.112)				AGAGCAGACCGGCCTTCTCAT	0.726																																						ENST00000270233.6																			0				central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	22						c.(1819-1821)gcfs		basal cell adhesion molecule (Lutheran blood group)							19	20	19					19																	45324017		2170	4261	6431	SO:0001589	frameshift_variant	4059				cell-matrix adhesion	integral to plasma membrane	laminin binding|laminin receptor activity	g.chr19:45324017delG	X83425	CCDS12644.1, CCDS42575.1	19q12-q13	2014-07-18	2006-02-23	2006-01-12		ENSG00000187244		"CD molecules", "Blood group antigens", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6722	protein-coding gene	gene with protein product		612773	"Lutheran blood group (Auberger b antigen included)", "basal cell adhesion molecule (Lu and Au blood groups)"	LU			Standard	NM_005581		Approved	CD239	uc002ozu.4	P50895		ENST00000270233.6:c.1819delG	19.37:g.45324017delG	ENSP00000270233:p.Gly607fs						p.G607fs	NM_001013257.2|NM_005581.4	NP_001013275.1|NP_005572.2	P50895	BCAM_HUMAN			14	1841	+	Lung NSC(12;0.000789)|all_lung(12;0.00218)	Ovarian(192;0.0728)|all_neural(266;0.112)	607					A8MYF9|A9YWT5|A9YWT6|Q86VC7	Frame_Shift_Del	DEL	ENST00000270233.6	37	c.1819delG	CCDS12644.1																																																																																				0.726	BCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453220.1	NM_005581		2	4						2	4	---	---	---	---	-	45324017	G	-	45324017	7	5	88	1	0	1	0	1	0	0	0	0	1344	1116	39	0	1877	0	BCAM	19	45324017	Frame_Shift_Del	DEL	G	TCGA-EJ-7325-01B-11D-A32B-08		45324017	13804966	33	4563											
FAM83D	81610	broad.mit.edu	37	chr20	37580707	37580707	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atagcaagctctcaaaccacGatttggtccagatcgaccac	13	8	7	13	2	1	1	1	0	1	1	4	3	2	1	3	1	3	2	3	1	3	2			TCGA-EJ-7325-01B-11D-A32B-08	TCGA-EJ-7325-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57c67ced-cab5-4e66-a6b8-04c020bd4a3e	16fc1662-ec00-4bfc-abf6-ce18b7ae0f4d	g.chr20:37580707G>A	ENST00000217429.4	+	4	1433	c.1392G>A	c.(1390-1392)acG>acA	p.T464T		NM_030919.2	NP_112181.2	Q9H4H8	FA83D_HUMAN	family with sequence similarity 83, member D	434	Ser-rich.				mitotic nuclear division (GO:0007067)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				endometrium(2)|kidney(2)|large_intestine(7)|lung(12)|ovary(4)|stomach(1)	28		Myeloproliferative disorder(115;0.00878)				CTCAAACCACGATTTGGTCCA	0.493																																						ENST00000217429.4																			0				endometrium(2)|kidney(2)|large_intestine(7)|lung(12)|ovary(4)|stomach(1)	28						c.(1390-1392)acG>acA		family with sequence similarity 83, member D							110	111	111					20																	37580707		2138	4237	6375	SO:0001819	synonymous_variant	81610				cell division|mitosis	cytoplasm|spindle pole		g.chr20:37580707G>A	AL023803	CCDS42872.1	20q11.23	2014-03-13	2006-03-23	2006-03-23	ENSG00000101447	ENSG00000101447			16122	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 129"	C20orf129		23205133	Standard	NM_030919		Approved	dJ616B8.3	uc002xjg.3	Q9H4H8	OTTHUMG00000032462	ENST00000217429.4:c.1392G>A	20.37:g.37580707G>A							p.T464T	NM_030919.2	NP_112181.2	Q9H4H8	FA83D_HUMAN			4	1433	+		Myeloproliferative disorder(115;0.00878)	434			Ser-rich.		B4E1I7|Q5THR2|Q68EN1|Q6P457|Q7Z6H0|Q96DF5|Q96N89|Q9BVM8	Silent	SNP	ENST00000217429.4	37	c.1392G>A	CCDS42872.1																																																																																				0.493	FAM83D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079211.1			29	39	0	0	0	1	0	29	39					A	37580707	G	A	37580707	2	1	88	1	0	0	0	0	0	0	0	1	5636	1045	37	2		2	FAM83D	20	37580707	Silent	SNP	G	TCGA-EJ-7325-01B-11D-A32B-08		37580707	25444813	34	4564											
SCARF2	91179	broad.mit.edu	37	chr22	20779786	20779786	+	Frame_Shift_Del	DEL	G	G	-																															gcgcgggcaagtcggtcgccGccttctcaggccccggggtt																										TCGA-EJ-7325-01B-11D-A32B-08	TCGA-EJ-7325-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57c67ced-cab5-4e66-a6b8-04c020bd4a3e	16fc1662-ec00-4bfc-abf6-ce18b7ae0f4d	g.chr22:20779786delG	ENST00000266214.5	-	11	2596	c.2492delC	c.(2491-2493)gcgfs	p.A832fs	SCARF2_ENST00000405555.3_Frame_Shift_Del_p.A827fs	NM_153334.4	NP_699165.2	Q96GP6	SREC2_HUMAN	scavenger receptor class F, member 2	832	Pro-rich.				cell adhesion (GO:0007155)	focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|skin(2)	10	Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.219)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)			GTCGGTCGCCGCCTTCTCAGG	0.746																																						ENST00000405555.3																			0				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|skin(2)	10						c.(2476-2478)ggfs		scavenger receptor class F, member 2							3	5	4					22																	20779786		1434	3226	4660	SO:0001589	frameshift_variant	0				cell adhesion	integral to membrane	protein binding|receptor activity	g.chr22:20779786delG	AF522196	CCDS13779.1, CCDS46666.1	22q11.21	2011-10-10			ENSG00000244486	ENSG00000244486			19869	protein-coding gene	gene with protein product		613619				12154095	Standard	XM_006724364		Approved	SREC-II, SREC2, HUMZD58C02	uc002zsk.2	Q96GP6	OTTHUMG00000150779	ENST00000266214.5:c.2492delC	22.37:g.20779786delG	ENSP00000266214:p.Ala832fs					SCARF2_ENST00000266214.5_Frame_Shift_Del_p.A832fs	p.A827fs	NM_182895.2	NP_878315.1	Q96GP6	SREC2_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)		11	2547	-	Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.219)	Lung SC(17;0.0262)	828			Pro-rich.		E5RFB8|Q58A83|Q8IXF3|Q9BW74	Frame_Shift_Del	DEL	ENST00000266214.5	37	c.2477delC	CCDS13779.1																																																																																				0.746	SCARF2-001	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000320047.1			2	4						2	4	---	---	---	---	-	20779786	G	-	20779786	7	5	88	1	0	1	0	1	0	0	0	0	13884	1087	38	0	124	0	SCARF2	22	20779786	Frame_Shift_Del	DEL	G	TCGA-EJ-7325-01B-11D-A32B-08		20779786	30524780	35	4565											
POGZ	23126	broad.mit.edu	37	chr1	151377502	151377515	+	Frame_Shift_Del	DEL	TAATGTTGCCATCG	TAATGTTGCCATCG	-																															agcatttcttgtaggtgagtTaatgttgccatcggggccag																								rs545762626		TCGA-EJ-7327-01A-11D-2114-08	TCGA-EJ-7327-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	496d38bb-e8f5-491c-943c-01739cc4a0e8	92b13aa2-eb12-433b-a744-c6f7d1d1e690	g.chr1:151377502_151377515delTAATGTTGCCATCG	ENST00000271715.2	-	19	4310_4323	c.3996_4009delCGATGGCAACATTA	c.(3994-4011)cccgatggcaacattaacfs	p.DGNIN1333fs	POGZ_ENST00000531094.1_Frame_Shift_Del_p.DGNIN1271fs|POGZ_ENST00000540984.1_Frame_Shift_Del_p.DGNIN695fs|POGZ_ENST00000361398.3_Frame_Shift_Del_p.DGNIN1280fs|POGZ_ENST00000392723.1_Frame_Shift_Del_p.DGNIN1280fs|POGZ_ENST00000368863.2_Frame_Shift_Del_p.DGNIN1238fs|POGZ_ENST00000409503.1_Frame_Shift_Del_p.DGNIN1324fs|POGZ_ENST00000491586.1_Frame_Shift_Del_p.DGNIN1289fs	NM_001194937.1|NM_015100.3	NP_001181866.1|NP_055915.2	Q7Z3K3	POGZ_HUMAN	pogo transposable element with ZNF domain	1333					kinetochore assembly (GO:0051382)|mitotic sister chromatid cohesion (GO:0007064)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(10)|kidney(3)|large_intestine(10)|liver(2)|lung(11)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	47	Lung SC(34;0.00471)|Ovarian(49;0.00672)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			GTAGGTGAGTTAATGTTGCCATCGGGGCCAGGCA	0.542											OREG0003905	type=REGULATORY REGION|Gene=POGZ|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																										ENST00000271715.2																			0				NS(1)|breast(1)|endometrium(10)|kidney(3)|large_intestine(10)|liver(2)|lung(11)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	47						c.(3994-4011)ccacfs		pogo transposable element with ZNF domain																																				SO:0001589	frameshift_variant	23126				cell division|kinetochore assembly|mitotic sister chromatid cohesion|regulation of transcription, DNA-dependent	cytoplasm|nuclear chromatin	DNA binding|protein binding|zinc ion binding	g.chr1:151377502_151377515delTAATGTTGCCATCG	AB007930	CCDS997.1, CCDS998.1, CCDS44222.1, CCDS44222.2, CCDS53365.1, CCDS53366.1	1q21.1	2013-07-22			ENSG00000143442	ENSG00000143442			18801	protein-coding gene	gene with protein product	"zinc finger protein 280E", "putative protein product of Nbla00003"	614787				10976766	Standard	NM_015100		Approved	KIAA0461, ZNF635m, ZNF280E	uc001eyd.2	Q7Z3K3	OTTHUMG00000012499	ENST00000271715.2:c.3996_4009delCGATGGCAACATTA	1.37:g.151377502_151377515delTAATGTTGCCATCG	ENSP00000271715:p.Asp1333fs		OREG0003905	type=REGULATORY REGION|Gene=POGZ|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	1739	POGZ_ENST00000368863.2_Frame_Shift_Del_p.PDGNIN1237fs|POGZ_ENST00000540984.1_Frame_Shift_Del_p.PDGNIN694fs|POGZ_ENST00000531094.1_Frame_Shift_Del_p.PDGNIN1270fs|POGZ_ENST00000491586.1_Frame_Shift_Del_p.PDGNIN1288fs|POGZ_ENST00000409503.1_Frame_Shift_Del_p.PDGNIN1323fs|POGZ_ENST00000392723.1_Frame_Shift_Del_p.PDGNIN1279fs|POGZ_ENST00000361398.3_Frame_Shift_Del_p.PDGNIN1279fs	p.PDGNIN1332fs	NM_001194937.1|NM_015100.3	NP_001181866.1|NP_055915.2	Q7Z3K3	POGZ_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)		19	4310_4323	-	Lung SC(34;0.00471)|Ovarian(49;0.00672)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		1332					B4DTP8|B4DYL9|B7ZBY5|E9PM80|O75049|Q3LIC4|Q5SZS1|Q5SZS2|Q5SZS3|Q5SZS4|Q8TDZ7|Q9Y4X7	Frame_Shift_Del	DEL	ENST00000271715.2	37	c.3996_4009delCGATGGCAACATTA	CCDS997.1																																																																																				0.542	POGZ-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000034915.2	NM_207171		7	35						7	35	---	---	---	---	-	151377515	TAATGTTGCCATCG	-	151377502	7	5	89	1	0	1	0	1	0	0	0	0	12186	1754	61	0	227	0	POGZ	1	151377502	Frame_Shift_Del	DEL	TAATGTTGCCATCG	TCGA-EJ-7327-01A-11D-2114-08		151377502	97873119	1	4566											
AIM2	9447	broad.mit.edu	37	chr1	159035790	159035790	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtttcaccagcttttctgatAatgttcagcgggacattaac	10	14	8	9	1	3	1	2	1	1	0	3	2	3	2	1	1	3	3	1	1	2	6			TCGA-EJ-7327-01A-11D-2114-08	TCGA-EJ-7327-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	496d38bb-e8f5-491c-943c-01739cc4a0e8	92b13aa2-eb12-433b-a744-c6f7d1d1e690	g.chr1:159035790A>T	ENST00000368130.4	-	4	1014	c.726T>A	c.(724-726)atT>atA	p.I242I	AIM2_ENST00000411768.1_5'Flank	NM_004833.1	NP_004824.1	O14862	AIM2_HUMAN	absent in melanoma 2	242	HIN-200. {ECO:0000255|PROSITE- ProRule:PRU00106}.				activation of innate immune response (GO:0002218)|apoptotic process (GO:0006915)|cellular response to drug (GO:0035690)|cellular response to interferon-beta (GO:0035458)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-1 beta secretion (GO:0050702)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of cysteine-type endopeptidase activity (GO:2001056)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of interleukin-1 beta production (GO:0032731)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein oligomerization (GO:0032461)|pyroptosis (GO:0070269)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	AIM2 inflammasome complex (GO:0097169)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|identical protein binding (GO:0042802)			breast(1)|large_intestine(1)|lung(7)|ovary(2)|pancreas(2)|prostate(2)|skin(1)	16	all_hematologic(112;0.0429)					CTTTTCTGATAATGTTCAGCG	0.428																																						ENST00000368130.4																			0				breast(1)|large_intestine(1)|lung(7)|ovary(2)|pancreas(2)|prostate(2)|skin(1)	16						c.(724-726)atT>atA		absent in melanoma 2							110	105	107					1																	159035790		2203	4300	6503	SO:0001819	synonymous_variant	9447				cellular response to drug|immune response|interleukin-1 beta secretion	mitochondrion|nucleus		g.chr1:159035790A>T	AF024714	CCDS1181.1	1q22	2008-07-18			ENSG00000163568	ENSG00000163568			357	protein-coding gene	gene with protein product		604578				9242382	Standard	NM_004833		Approved	PYHIN4	uc001ftj.1	O14862	OTTHUMG00000037183	ENST00000368130.4:c.726T>A	1.37:g.159035790A>T						AIM2_ENST00000481829.1_Intron	p.I242I	NM_004833.1	NP_004824.1	O14862	AIM2_HUMAN			4	1014	-	all_hematologic(112;0.0429)		242			HIN-200.		A8K7M7|Q5T3V9|Q96FG9	Silent	SNP	ENST00000368130.4	37	c.726T>A	CCDS1181.1																																																																																				0.428	AIM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090341.1	NM_004833		10	58	0	0	0	0.069234	0	10	58					T	159035790	A	T	159035790	2	4	89	1	0	0	0	0	0	0	0	1	432	358	13	5		5	AIM2	1	159035790	Silent	SNP	A	TCGA-EJ-7327-01A-11D-2114-08	7658288	159035790	90214831	2	4567											
C1orf65	164127	broad.mit.edu	37	chr1	223566906	223566906	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agaacgagagtccacgcagcGgctgggcgggcagaggtccg	9	3	18	11	5	0	3	0	0	0	3	2	4	2	3	2	4	2	3	2	4	1	0			TCGA-EJ-7327-01A-11D-2114-08	TCGA-EJ-7327-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	496d38bb-e8f5-491c-943c-01739cc4a0e8	92b13aa2-eb12-433b-a744-c6f7d1d1e690	g.chr1:223566906G>A	ENST00000366875.3	+	1	192	c.89G>A	c.(88-90)cGg>cAg	p.R30Q		NM_152610.2	NP_689823.2	Q8N715	CC185_HUMAN		30										breast(4)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|skin(3)	29				GBM - Glioblastoma multiforme(131;0.0704)		TCCACGCAGCGGCTGGGCGGG	0.736																																						ENST00000366875.3																			0				breast(4)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|skin(3)	29						c.(88-90)cGg>cAg		chromosome 1 open reading frame 65							6	8	7					1																	223566906		1905	3874	5779	SO:0001583	missense	164127							g.chr1:223566906G>A																												ENST00000366875.3:c.89G>A	1.37:g.223566906G>A	ENSP00000355840:p.Arg30Gln						p.R30Q	NM_152610.2	NP_689823.2	Q8N715	CA065_HUMAN		GBM - Glioblastoma multiforme(131;0.0704)	1	192	+			30					Q8N746|Q8NA93	Missense_Mutation	SNP	ENST00000366875.3	37	c.89G>A	CCDS1537.1	.	.	.	.	.	.	.	.	.	.	G	7.416	0.635725	0.14322	.	.	ENSG00000178395	ENST00000366875	T	0.18338	2.22	3.53	-5.78	0.02362	.	.	.	.	.	T	0.04588	0.0125	N	0.04880	-0.145	0.09310	N	1	B	0.23490	0.086	B	0.12837	0.008	T	0.39800	-0.9596	9	0.13108	T	0.6	.	0.689	0.00888	0.4195:0.1366:0.1682:0.2757	.	30	Q8N715	CA065_HUMAN	Q	30	ENSP00000355840:R30Q	ENSP00000355840:R30Q	R	+	2	0	C1orf65	221633529	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.534000	0.06150	-0.871000	0.04042	-1.114000	0.02060	CGG		0.736	C1orf65-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092718.1			4	10	0	0	0	0.014758	0	4	10					A	223566906	G	A	223566906	3	1	89	1	0	0	0	0	1	0	0	0	2055	1116	39	2	91	2	C1orf65	1	223566906	Missense_Mutation	SNP	G	TCGA-EJ-7327-01A-11D-2114-08	64531116	223566906	25683715	3	4568											
YWHAQ	10971	broad.mit.edu	37	chr2	9731521	9731522	+	Splice_Site	INS	-	-	TT																															atataacaaataaacttacgINSttttcgatcatcaccacacg																										TCGA-EJ-7327-01A-11D-2114-08	TCGA-EJ-7327-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	496d38bb-e8f5-491c-943c-01739cc4a0e8	92b13aa2-eb12-433b-a744-c6f7d1d1e690	g.chr2:9731521_9731522insTT	ENST00000381844.4	-	2	580_581	c.417_418insAA	c.(415-420)aaacaa>aaaAAcaa	p.Q140fs	YWHAQ_ENST00000238081.3_Splice_Site_p.Q140fs|YWHAQ_ENST00000474715.1_5'UTR			P27348	1433T_HUMAN	tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, theta	140					apoptotic process (GO:0006915)|intrinsic apoptotic signaling pathway (GO:0097193)|membrane organization (GO:0061024)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|protein targeting (GO:0006605)|small GTPase mediated signal transduction (GO:0007264)|substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|protein complex (GO:0043234)	protein N-terminus binding (GO:0047485)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)	6	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.241)		ATAAACTTACGTTTTCGATCAT	0.381																																						ENST00000381844.4																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)	6						c.e2+1		tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, theta polypeptide																																				SO:0001630	splice_region_variant	10971				negative regulation of transcription, DNA-dependent	centrosome|nucleus	protein N-terminus binding	g.chr2:9731521_9731522insTT	AF070556	CCDS1666.1	2p25.2-p25.1	2013-12-03	2013-12-03		ENSG00000134308	ENSG00000134308			12854	protein-coding gene	gene with protein product	"protein tau"	609009	"tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, theta polypeptide"			11080204	Standard	NM_006826		Approved	HS1, 14-3-3	uc002qzx.3	P27348	OTTHUMG00000013848	ENST00000381844.4:c.418+1->AA	2.37:g.9731524_9731525dupTT						YWHAQ_ENST00000474715.1_5'UTR|YWHAQ_ENST00000238081.3_Splice_Site_p.N140_splice	p.N140_splice			P27348	1433T_HUMAN		Epithelial(75;0.241)	2	580_581	-	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		140					D6W4Z5|Q567U5|Q5TZU8|Q9UP48	Splice_Site	INS	ENST00000381844.4	37	c.418_splice	CCDS1666.1																																																																																				0.381	YWHAQ-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039014.4	NM_006826	Frame_Shift_Ins	18	50						18	50	---	---	---	---	TT	9731522	-	TT	9731521	8	5	89	1	0	1	1	0	0	0	1	0	17502	1159	40	0	335	0	YWHAQ	2	9731521	Splice_Site	INS	-	TCGA-EJ-7327-01A-11D-2114-08		9731521	233467852	4	4569											
ROBO2	6092	broad.mit.edu	37	chr3	77693942	77693942	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcttcttctaagggatccaCtggacctaggaaaaccgagg	12	8	11	10	1	2	0	0	0	2	0	3	4	3	3	3	4	2	1	3	4	4	4			TCGA-EJ-7327-01A-11D-2114-08	TCGA-EJ-7327-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	496d38bb-e8f5-491c-943c-01739cc4a0e8	92b13aa2-eb12-433b-a744-c6f7d1d1e690	g.chr3:77693942C>G	ENST00000461745.1	+	25	4922	c.4022C>G	c.(4021-4023)aCt>aGt	p.T1341S	ROBO2_ENST00000487694.3_Missense_Mutation_p.T1357S|ROBO2_ENST00000332191.8_Missense_Mutation_p.T1402S	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	1341					apoptotic process involved in luteolysis (GO:0061364)|axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|brain development (GO:0007420)|cellular response to hormone stimulus (GO:0032870)|central nervous system development (GO:0007417)|homophilic cell adhesion (GO:0007156)|metanephros development (GO:0001656)|negative regulation of negative chemotaxis (GO:0050925)|negative regulation of synapse assembly (GO:0051964)|olfactory bulb interneuron development (GO:0021891)|positive regulation of axonogenesis (GO:0050772)|retinal ganglion cell axon guidance (GO:0031290)|ureteric bud development (GO:0001657)	axolemma (GO:0030673)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	axon guidance receptor activity (GO:0008046)|identical protein binding (GO:0042802)			NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		AAGGGATCCACTGGACCTAGG	0.517																																						ENST00000461745.1																			0				NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117						c.(4021-4023)aCt>aGt		roundabout, axon guidance receptor, homolog 2 (Drosophila)							89	91	90					3																	77693942		2026	4174	6200	SO:0001583	missense	6092				apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding	g.chr3:77693942C>G	AF040991	CCDS43109.1, CCDS54609.1	3p12.3	2013-02-11	2001-11-28		ENSG00000185008	ENSG00000185008		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	10250	protein-coding gene	gene with protein product		602431	"roundabout (axon guidance receptor, Drosophila) homolog 2"			9458045	Standard	NM_002942		Approved	KIAA1568	uc003dpy.4	Q9HCK4	OTTHUMG00000158935	ENST00000461745.1:c.4022C>G	3.37:g.77693942C>G	ENSP00000417164:p.Thr1341Ser					ROBO2_ENST00000487694.3_Missense_Mutation_p.T1357S|ROBO2_ENST00000332191.8_Missense_Mutation_p.T1402S	p.T1341S	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN		Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)	25	4922	+			1341					O43608|Q19AB4|Q19AB5	Missense_Mutation	SNP	ENST00000461745.1	37	c.4022C>G	CCDS43109.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.7|20.7	4.038701|4.038701	0.75617|0.75617	.|.	.|.	ENSG00000185008|ENSG00000185008	ENST00000475334;ENST00000490534|ENST00000487694;ENST00000403211;ENST00000461745;ENST00000332191	.|T;T;T	.|0.65916	.|-0.18;-0.15;-0.11	5.85|5.85	5.85|5.85	0.93711|0.93711	.|.	.|0.000000	.|0.47455	.|D	.|0.000240	T|T	0.63954|0.63954	0.2555|0.2555	N|N	0.08118|0.08118	0|0	.|0.31090	.|N	.|0.710863	.|D;D;D	.|0.67145	.|0.993;0.996;0.993	.|D;D;D	.|0.73380	.|0.956;0.98;0.956	T|T	0.65553|0.65553	-0.6140|-0.6140	4|9	.|0.29301	.|T	.|0.29	.|.	20.168|20.168	0.98156|0.98156	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|1357;1402;1341	.|Q19AB5;F8W703;Q9HCK4	.|.;.;ROBO2_HUMAN	Q|S	172;160|1357;1357;1341;1402	.|ENSP00000417335:T1357S;ENSP00000417164:T1341S;ENSP00000327536:T1402S	.|ENSP00000327536:T1402S	H|T	+|+	3|2	2|0	ROBO2|ROBO2	77776632|77776632	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.374000|0.374000	0.29953|0.29953	7.251000|7.251000	0.78297|0.78297	2.775000|2.775000	0.95449|0.95449	0.655000|0.655000	0.94253|0.94253	CAC|ACT		0.517	ROBO2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000352600.2	XM_031246		5	62	0	0	0	0.014758	0	5	62					G	77693942	C	G	77693942	3	3	89	1	0	0	0	0	1	0	0	0	13514	565	20	5	4122	5	ROBO2	3	77693942	Missense_Mutation	SNP	C	TCGA-EJ-7327-01A-11D-2114-08		77693942	120328488	5	4570											
GP5	2814	broad.mit.edu	37	chr3	194118889	194118889	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggcctagcgcggagatgcgCgccacgtcgccccccgagca	7	3	14	17	7	0	1	0	0	0	1	1	3	0	1	5	2	3	1	5	2	1	1			TCGA-EJ-7327-01A-11D-2114-08	TCGA-EJ-7327-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	496d38bb-e8f5-491c-943c-01739cc4a0e8	92b13aa2-eb12-433b-a744-c6f7d1d1e690	g.chr3:194118889C>T	ENST00000401815.1	-	1	194	c.123G>A	c.(121-123)gcG>gcA	p.A41A	GP5_ENST00000323007.3_Silent_p.A41A			P40197	GPV_HUMAN	glycoprotein V (platelet)	41	LRRNT.				blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|negative regulation of platelet activation (GO:0010544)|platelet activation (GO:0030168)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				breast(3)|central_nervous_system(2)|endometrium(2)|large_intestine(9)|lung(14)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	35	all_cancers(143;6.64e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	OV - Ovarian serous cystadenocarcinoma(49;7.38e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.06e-05)		CGGAGATGCGCGCCACGTCGC	0.706																																						ENST00000401815.1																			0				breast(3)|central_nervous_system(2)|endometrium(2)|large_intestine(9)|lung(14)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	35						c.(121-123)gcG>gcA		glycoprotein V (platelet)							29	30	30					3																	194118889		2190	4286	6476	SO:0001819	synonymous_variant	2814				blood coagulation, intrinsic pathway|cell adhesion|platelet activation	integral to plasma membrane		g.chr3:194118889C>T	L11238	CCDS3307.1	3q29	2008-02-01			ENSG00000178732	ENSG00000178732		"CD molecules"	4443	protein-coding gene	gene with protein product		173511				7690959	Standard	NM_004488		Approved	CD42d	uc003ftv.1	P40197	OTTHUMG00000150345	ENST00000401815.1:c.123G>A	3.37:g.194118889C>T						GP5_ENST00000323007.3_Silent_p.A41A	p.A41A			P40197	GPV_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;7.38e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.06e-05)	1	194	-	all_cancers(143;6.64e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	41			LRRNT.		D1MER9	Silent	SNP	ENST00000401815.1	37	c.123G>A	CCDS3307.1																																																																																				0.706	GP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317710.1	NM_004488		13	28	0	0	0	0.020292	0	13	28					T	194118889	C	T	194118889	2	4	89	1	0	0	0	0	0	0	0	1	6583	755	27	1		1	GP5	3	194118889	Silent	SNP	C	TCGA-EJ-7327-01A-11D-2114-08	116424947	194118889	3903541	6	4571											
CORIN	10699	broad.mit.edu	37	chr4	47809012	47809012	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accggaggaggttagcagtcGccagcttctgagagcagcca	10	6	14	11	2	1	1	0	1	1	1	2	4	1	3	3	3	4	4	3	3	1	2	rs571200712		TCGA-EJ-7327-01A-11D-2114-08	TCGA-EJ-7327-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	496d38bb-e8f5-491c-943c-01739cc4a0e8	92b13aa2-eb12-433b-a744-c6f7d1d1e690	g.chr4:47809012G>A	ENST00000273857.4	-	2	115	c.116C>T	c.(115-117)gCg>gTg	p.A39V	CORIN_ENST00000504584.1_Missense_Mutation_p.A39V|CORIN_ENST00000505909.1_Missense_Mutation_p.A39V|CORIN_ENST00000502252.1_Missense_Mutation_p.A39V	NM_006587.2	NP_006578.2	Q9Y5Q5	CORIN_HUMAN	corin, serine peptidase	39					female pregnancy (GO:0007565)|peptide hormone processing (GO:0016486)|proteolysis (GO:0006508)|regulation of blood pressure (GO:0008217)|regulation of renal sodium excretion (GO:0035813)|regulation of systemic arterial blood pressure by atrial natriuretic peptide (GO:0003050)	cell surface (GO:0009986)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)|serine-type exopeptidase activity (GO:0070008)			NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(18)|lung(39)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	79						GTTAGCAGTCGCCAGCTTCTG	0.453													G|||	1	0.000199681	0	0	5008	,	,		17746	0		0	False		,,,				2504	0.001					ENST00000273857.4																			0				NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(18)|lung(39)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	79						c.(115-117)gCg>gTg		corin, serine peptidase							111	92	98					4																	47809012		2203	4300	6503	SO:0001583	missense	10699				peptide hormone processing|regulation of systemic arterial blood pressure by atrial natriuretic peptide	integral to membrane|plasma membrane	scavenger receptor activity|serine-type endopeptidase activity|serine-type exopeptidase activity	g.chr4:47809012G>A	AF133845	CCDS3477.1, CCDS63958.1, CCDS75122.1	4p13-p12	2011-08-31	2005-08-17		ENSG00000145244	ENSG00000145244		"Serine peptidases / Transmembrane"	19012	protein-coding gene	gene with protein product		605236	"corin, serine protease"			10329693	Standard	NM_006587		Approved	PRSC, CRN, ATC2, Lrp4, TMPRSS10	uc003gxm.3	Q9Y5Q5	OTTHUMG00000099441	ENST00000273857.4:c.116C>T	4.37:g.47809012G>A	ENSP00000273857:p.Ala39Val					CORIN_ENST00000504584.1_Missense_Mutation_p.A39V|CORIN_ENST00000502252.1_Missense_Mutation_p.A39V|CORIN_ENST00000505909.1_Missense_Mutation_p.A39V	p.A39V	NM_006587.2	NP_006578.2	Q9Y5Q5	CORIN_HUMAN			2	115	-			39					B0ZBE3|Q2TBD2|Q4W5E5|Q4W5G6|Q9UHY2	Missense_Mutation	SNP	ENST00000273857.4	37	c.116C>T	CCDS3477.1	.	.	.	.	.	.	.	.	.	.	G	6.028	0.373565	0.11409	.	.	ENSG00000145244	ENST00000273857;ENST00000502252;ENST00000505909;ENST00000504584	D;D;D;D	0.93076	-2.62;-2.65;-2.55;-3.16	4.95	3.1	0.35709	.	0.387908	0.23581	N	0.046658	D	0.83774	0.5327	N	0.20986	0.625	0.25125	N	0.990616	B;B;B;B	0.19445	0.021;0.036;0.001;0.021	B;B;B;B	0.10450	0.005;0.005;0.002;0.005	T	0.66143	-0.5997	10	0.02654	T	1	.	8.5217	0.33279	0.2674:0.0:0.7326:0.0	.	39;39;39;39	B7Z4R1;B4E2W9;B4E1Y7;Q9Y5Q5	.;.;.;CORIN_HUMAN	V	39	ENSP00000273857:A39V;ENSP00000424212:A39V;ENSP00000425401:A39V;ENSP00000423216:A39V	ENSP00000273857:A39V	A	-	2	0	CORIN	47503769	0.374000	0.25081	0.314000	0.25224	0.014000	0.08584	0.562000	0.23531	0.571000	0.29365	-0.355000	0.07637	GCG		0.453	CORIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216906.2			5	25	0	0	0	0.021553	0	5	25					A	47809012	G	A	47809012	3	1	89	1	0	0	0	0	1	0	0	0	3752	1087	38	1	3096	1	CORIN	4	47809012	Missense_Mutation	SNP	G	TCGA-EJ-7327-01A-11D-2114-08		47809012	143345264	7	4572											
RCHY1	25898	broad.mit.edu	37	chr4	76417113	76417113	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gcctacctccaaacatattgGacaattctgtcgggacacat	12	10	7	12	1	1	0	0	0	1	0	3	2	2	2	3	2	2	0	3	2	4	4			TCGA-EJ-7327-01A-11D-2114-08	TCGA-EJ-7327-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	496d38bb-e8f5-491c-943c-01739cc4a0e8	92b13aa2-eb12-433b-a744-c6f7d1d1e690	g.chr4:76417113G>T	ENST00000324439.5	-	5	834	c.436C>A	c.(436-438)Cca>Aca	p.P146T	RCHY1_ENST00000514021.1_5'Flank|RCHY1_ENST00000513257.1_Missense_Mutation_p.P146T|RCHY1_ENST00000380840.2_Missense_Mutation_p.P106T|RCHY1_ENST00000512706.1_Missense_Mutation_p.P124T|RCHY1_ENST00000451788.1_Missense_Mutation_p.P146T	NM_001278536.1|NM_001278538.1|NM_001278539.1	NP_001265465.1|NP_001265467.1|NP_001265468.1	Q96PM5	ZN363_HUMAN	ring finger and CHY zinc finger domain containing 1, E3 ubiquitin protein ligase	146					positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein ubiquitination (GO:0031398)|protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	ligase activity (GO:0016874)|p53 binding (GO:0002039)|protein homodimerization activity (GO:0042803)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			large_intestine(2)|pancreas(1)	3			Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122)			AAACATATTGGACAATTCTGT	0.284																																						ENST00000324439.5																			0				large_intestine(2)|pancreas(1)	3						c.(436-438)Cca>Aca		ring finger and CHY zinc finger domain containing 1, E3 ubiquitin protein ligase							55	58	57					4																	76417113		2198	4291	6489	SO:0001583	missense	25898				positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein autoubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nuclear speck|ubiquitin ligase complex	electron carrier activity|p53 binding|protein homodimerization activity|ubiquitin-protein ligase activity|zinc ion binding	g.chr4:76417113G>T	AF255666	CCDS3567.1, CCDS34012.1, CCDS63990.1, CCDS63991.1, CCDS63992.1	4q21.1-q21.3	2014-02-17	2012-02-23	2004-03-30	ENSG00000163743	ENSG00000163743		"RING-type (C3HC4) zinc fingers"	17479	protein-coding gene	gene with protein product	"androgen-receptor N-terminal-interacting protein", "p53-induced protein with a RING-H2 domain", "zinc finger, CHY-type"	607680	"zinc finger protein 363", "ring finger and CHY zinc finger domain containing 1"	ZNF363		12654245	Standard	NM_015436		Approved	CHIMP, DKFZp586C1620, PRO1996, RNF199, ARNIP, PIRH2, ZCHY	uc003hik.3	Q96PM5	OTTHUMG00000130105	ENST00000324439.5:c.436C>A	4.37:g.76417113G>T	ENSP00000321239:p.Pro146Thr					RCHY1_ENST00000512706.1_Missense_Mutation_p.P124T|RCHY1_ENST00000380840.2_Missense_Mutation_p.P106T|RCHY1_ENST00000451788.1_Missense_Mutation_p.P146T|RCHY1_ENST00000513257.1_Missense_Mutation_p.P146T	p.P146T	NM_001278536.1|NM_001278538.1|NM_001278539.1	NP_001265465.1|NP_001265467.1|NP_001265468.1	Q96PM5	ZN363_HUMAN	Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122)		5	834	-			146					B3KRG3|C7E541|C7E542|C7E543|D3YRV2|E7EMC8|E7ETW5|J3KPI0|Q2KN33|Q59GN7|Q86X26|Q96PR5	Missense_Mutation	SNP	ENST00000324439.5	37	c.436C>A	CCDS3567.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.959368	0.74016	.	.	ENSG00000163743	ENST00000324439;ENST00000451788;ENST00000380840;ENST00000512706;ENST00000513257;ENST00000507014	T;T;T;T	0.45668	0.89;0.89;0.89;0.89	4.34	4.34	0.51931	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);Zinc finger, C3HC4 RING-type (1);	0.000000	0.85682	D	0.000000	T	0.63885	0.2549	M	0.75777	2.31	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	0.999;0.999;0.999;0.999;1.0;1.0	T	0.69045	-0.5249	10	0.87932	D	0	-10.7004	14.3909	0.66978	0.0:0.0:1.0:0.0	.	106;146;124;146;146;146	E7EMC8;Q2KN33;E7ETW5;Q96PM5-2;Q96PM5;G3FDP4	.;.;.;.;ZN363_HUMAN;.	T	146;146;106;124;146;106	ENSP00000321239:P146T;ENSP00000401041:P146T;ENSP00000370220:P106T;ENSP00000423976:P124T	ENSP00000321239:P146T	P	-	1	0	RCHY1	76636137	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	6.464000	0.73534	2.246000	0.74042	0.460000	0.39030	CCA		0.284	RCHY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252411.2	NM_015436		12	35	1	0	1.33834e-09	0.043863	2.00751e-09	12	35					T	76417113	G	T	76417113	3	4	89	1	0	0	0	0	1	0	0	0	13177	1174	41	5	369	5	RCHY1	4	76417113	Missense_Mutation	SNP	G	TCGA-EJ-7327-01A-11D-2114-08	28608101	76417113	114737163	8	4573											
NPY1R	4886	broad.mit.edu	37	chr4	164247226	164247226	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacagcaaggacccaaatcaCagcaatacctacataagcat	18	5	5	13	0	1	0	1	0	0	0	1	1	1	1	2	1	5	3	2	1	6	3			TCGA-EJ-7327-01A-11D-2114-08	TCGA-EJ-7327-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	496d38bb-e8f5-491c-943c-01739cc4a0e8	92b13aa2-eb12-433b-a744-c6f7d1d1e690	g.chr4:164247226C>A	ENST00000296533.2	-	2	1012	c.481G>T	c.(481-483)Gtg>Ttg	p.V161L	NPY1R_ENST00000509586.1_Intron	NM_000909.5	NP_000900.1	P25929	NPY1R_HUMAN	neuropeptide Y receptor Y1	161					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|feeding behavior (GO:0007631)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|glucose metabolic process (GO:0006006)|locomotory behavior (GO:0007626)|neuropeptide signaling pathway (GO:0007218)|outflow tract morphogenesis (GO:0003151)|regulation of blood pressure (GO:0008217)|regulation of multicellular organism growth (GO:0040014)|sensory perception of pain (GO:0019233)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neuropeptide Y receptor activity (GO:0004983)|pancreatic polypeptide receptor activity (GO:0001602)|peptide YY receptor activity (GO:0001601)			breast(1)|cervix(1)|large_intestine(4)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)	30	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				ACCCAAATCACAGCAATACCT	0.433																																						ENST00000296533.2																			0				breast(1)|cervix(1)|large_intestine(4)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)	30						c.(481-483)Gtg>Ttg		neuropeptide Y receptor Y1							137	126	130					4																	164247226		2203	4300	6503	SO:0001583	missense	0				inhibition of adenylate cyclase activity by G-protein signaling pathway|outflow tract morphogenesis	integral to plasma membrane	protein binding	g.chr4:164247226C>A		CCDS34089.1	4q31.3-q32	2012-08-08				ENSG00000164128		"GPCR / Class A : Neuropeptide receptors : Y"	7956	protein-coding gene	gene with protein product		162641		NPYR		8095935	Standard	NM_000909		Approved		uc003iqm.2	P25929		ENST00000296533.2:c.481G>T	4.37:g.164247226C>A	ENSP00000354652:p.Val161Leu					NPY1R_ENST00000509586.1_Intron	p.V161L	NM_000909.5	NP_000900.1	P25929	NPY1R_HUMAN			2	1012	-	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)	161					B2R6H5	Missense_Mutation	SNP	ENST00000296533.2	37	c.481G>T	CCDS34089.1	.	.	.	.	.	.	.	.	.	.	C	4.347	0.063799	0.08388	.	.	ENSG00000164128	ENST00000296533	T	0.36340	1.26	5.84	4.03	0.46877	GPCR, rhodopsin-like superfamily (1);	0.362803	0.25161	N	0.032672	T	0.14442	0.0349	N	0.02391	-0.57	0.80722	D	1	B	0.06786	0.001	B	0.04013	0.001	T	0.08597	-1.0714	10	0.08599	T	0.76	.	13.2854	0.60241	0.0:0.8093:0.123:0.0677	.	161	P25929	NPY1R_HUMAN	L	161	ENSP00000354652:V161L	ENSP00000354652:V161L	V	-	1	0	NPY1R	164466676	0.987000	0.35691	0.998000	0.56505	0.961000	0.63080	1.180000	0.32005	1.487000	0.48415	0.655000	0.94253	GTG		0.433	NPY1R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364685.1			13	25	1	0	7.03913e-09	0.09319	1.01946e-08	13	25					A	164247226	C	A	164247226	3	1	89	1	0	0	0	0	1	0	0	0	10608	478	17	5	681	5	NPY1R	4	164247226	Missense_Mutation	SNP	C	TCGA-EJ-7327-01A-11D-2114-08	87830113	164247226	26907050	9	4574											
PDZD2	23037	broad.mit.edu	37	chr5	31983565	31983565	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgaccctgaacttggaaacGgccatgtctttcagctagaa	11	10	9	11	1	2	3	1	2	1	1	2	4	2	4	2	2	3	1	2	2	4	3			TCGA-EJ-7327-01A-11D-2114-08	TCGA-EJ-7327-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	496d38bb-e8f5-491c-943c-01739cc4a0e8	92b13aa2-eb12-433b-a744-c6f7d1d1e690	g.chr5:31983565G>A	ENST00000438447.1	+	3	1169	c.781G>A	c.(781-783)Ggc>Agc	p.G261S	PDZD2_ENST00000282493.3_Missense_Mutation_p.G261S			O15018	PDZD2_HUMAN	PDZ domain containing 2	261					cell adhesion (GO:0007155)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|nucleus (GO:0005634)				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						ACTTGGAAACGGCCATGTCTT	0.557																																						ENST00000438447.1																			0				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						c.(781-783)Ggc>Agc		PDZ domain containing 2							63	64	64					5																	31983565		2203	4300	6503	SO:0001583	missense	23037				cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus		g.chr5:31983565G>A	AB002298	CCDS34137.1	5p14.1	2008-02-05	2006-01-24	2006-01-24		ENSG00000133401			18486	protein-coding gene	gene with protein product		610697	"PDZ domain containing 3"	PDZK3		9205841	Standard	XM_005248271		Approved	KIAA0300	uc003jhm.3	O15018		ENST00000438447.1:c.781G>A	5.37:g.31983565G>A	ENSP00000402033:p.Gly261Ser					PDZD2_ENST00000282493.3_Missense_Mutation_p.G261S	p.G261S			O15018	PDZD2_HUMAN			3	1169	+			261					Q9BXD4	Missense_Mutation	SNP	ENST00000438447.1	37	c.781G>A	CCDS34137.1	.	.	.	.	.	.	.	.	.	.	G	11.14	1.549927	0.27652	.	.	ENSG00000133401	ENST00000438447;ENST00000382161;ENST00000282493	T;T	0.07327	3.2;3.2	4.19	4.19	0.49359	.	0.000000	0.47852	D	0.000201	T	0.05227	0.0139	L	0.29908	0.895	0.34159	D	0.668478	P;B	0.48640	0.913;0.087	B;B	0.31191	0.125;0.032	T	0.33777	-0.9855	10	0.45353	T	0.12	.	12.329	0.55028	0.0:0.0:1.0:0.0	.	87;261	B4E3P2;O15018	.;PDZD2_HUMAN	S	261	ENSP00000402033:G261S;ENSP00000282493:G261S	ENSP00000282493:G261S	G	+	1	0	PDZD2	32019322	0.025000	0.19082	0.887000	0.34795	0.254000	0.26022	-0.246000	0.08878	2.620000	0.88729	0.650000	0.86243	GGC		0.557	PDZD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366608.1			4	74	0	0	0	0.009096	0	4	74					A	31983565	G	A	31983565	3	1	89	1	0	0	0	0	1	0	0	0	11701	1116	39	2	787	2	PDZD2	5	31983565	Missense_Mutation	SNP	G	TCGA-EJ-7327-01A-11D-2114-08		31983565	148931695	10	4575											
CDX1	1044	broad.mit.edu	37	chr5	149562382	149562382	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtctacaccgaccaccaacGcctggagctggagaaggagt	11	5	13	12	2	1	1	0	0	1	1	1	5	1	3	4	4	3	1	4	4	3	1			TCGA-EJ-7327-01A-11D-2114-08	TCGA-EJ-7327-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	496d38bb-e8f5-491c-943c-01739cc4a0e8	92b13aa2-eb12-433b-a744-c6f7d1d1e690	g.chr5:149562382G>T	ENST00000231656.8	+	2	579	c.497G>T	c.(496-498)cGc>cTc	p.R166L		NM_001804.2	NP_001795.2	P47902	CDX1_HUMAN	caudal type homeobox 1	166					anterior/posterior pattern specification (GO:0009952)|bone morphogenesis (GO:0060349)|organ morphogenesis (GO:0009887)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)			central_nervous_system(1)|kidney(2)|lung(1)|ovary(1)	5		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GACCACCAACGCCTGGAGCTG	0.567																																						ENST00000231656.8																			0				central_nervous_system(1)|kidney(2)|lung(1)|ovary(1)	5						c.(496-498)cGc>cTc		caudal type homeobox 1							151	151	151					5																	149562382		2203	4300	6503	SO:0001583	missense	1044					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr5:149562382G>T	U51095	CCDS4304.1	5q32	2012-03-09	2007-07-09		ENSG00000113722	ENSG00000113722		"Homeoboxes / ANTP class : HOXL subclass"	1805	protein-coding gene	gene with protein product		600746	"caudal type homeo box transcription factor 1"			8530027	Standard	NM_001804		Approved		uc003lrq.3	P47902	OTTHUMG00000169772	ENST00000231656.8:c.497G>T	5.37:g.149562382G>T	ENSP00000231656:p.Arg166Leu						p.R166L	NM_001804.2	NP_001795.2	P47902	CDX1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		2	579	+		all_hematologic(541;0.224)	166					Q4VAU4|Q9NYK8	Missense_Mutation	SNP	ENST00000231656.8	37	c.497G>T	CCDS4304.1	.	.	.	.	.	.	.	.	.	.	G	36	5.702800	0.96812	.	.	ENSG00000113722	ENST00000231656;ENST00000377812	D	0.94687	-3.49	5.87	5.87	0.94306	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.122961	0.56097	D	0.000032	D	0.93700	0.7987	N	0.04260	-0.245	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	D	0.95546	0.8616	10	0.72032	D	0.01	-13.975	20.2079	0.98282	0.0:0.0:1.0:0.0	.	166	P47902	CDX1_HUMAN	L	166;55	ENSP00000231656:R166L	ENSP00000231656:R166L	R	+	2	0	CDX1	149542575	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.787000	0.99055	2.781000	0.95711	0.655000	0.94253	CGC		0.567	CDX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252328.7	NM_001804		58	127	1	0	3.21867e-24	0.048971	5.00683e-24	58	127					T	149562382	G	T	149562382	3	4	89	1	0	0	0	0	1	0	0	0	3182	1087	38	5	503	5	CDX1	5	149562382	Missense_Mutation	SNP	G	TCGA-EJ-7327-01A-11D-2114-08	117578817	149562382	31352878	11	4576											
IRF4	3662	broad.mit.edu	37	chr6	397161	397161	+	Frame_Shift_Del	DEL	C	C	-																															cgaagctggagggactacgtCccggatcagccacacccgga																										TCGA-EJ-7327-01A-11D-2114-08	TCGA-EJ-7327-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	496d38bb-e8f5-491c-943c-01739cc4a0e8	92b13aa2-eb12-433b-a744-c6f7d1d1e690	g.chr6:397161delC	ENST00000380956.4	+	5	672	c.546delC	c.(544-546)gtcfs	p.V182fs	IRF4_ENST00000495137.1_3'UTR	NM_001195286.1|NM_002460.3	NP_001182215.1|NP_002451.2	Q15306	IRF4_HUMAN	interferon regulatory factor 4	182					cytokine-mediated signaling pathway (GO:0019221)|defense response to protozoan (GO:0042832)|histone H3 acetylation (GO:0043966)|histone H4 acetylation (GO:0043967)|interferon-gamma-mediated signaling pathway (GO:0060333)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|positive regulation of DNA binding (GO:0043388)|positive regulation of interleukin-10 biosynthetic process (GO:0045082)|positive regulation of interleukin-13 biosynthetic process (GO:0045368)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of interleukin-4 biosynthetic process (GO:0045404)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of T-helper cell differentiation (GO:0045622)|T cell activation (GO:0042110)|T-helper 17 cell lineage commitment (GO:0072540)|transcription, DNA-templated (GO:0006351)|type I interferon signaling pathway (GO:0060337)	cytosol (GO:0005829)|membrane (GO:0016020)|nuclear nucleosome (GO:0000788)|nucleus (GO:0005634)	protein-lysine N-methyltransferase activity (GO:0016279)|regulatory region DNA binding (GO:0000975)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)	5		Breast(5;0.0155)|all_lung(73;0.0691)|all_hematologic(90;0.0895)		OV - Ovarian serous cystadenocarcinoma(45;0.03)|BRCA - Breast invasive adenocarcinoma(62;0.0702)		GGGACTACGTCCCGGATCAGC	0.567			T	IGH@	MM																																	ENST00000380956.4				Dom	yes		6	6p25-p23	3662	T	interferon regulatory factor 4			L	IGH@		MM		0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)	5						c.(544-546)gtfs		interferon regulatory factor 4							110	115	113					6																	397161		2203	4300	6503	SO:0001589	frameshift_variant	3662				interferon-gamma-mediated signaling pathway|positive regulation of interleukin-10 biosynthetic process|positive regulation of interleukin-13 biosynthetic process|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-4 biosynthetic process|positive regulation of transcription, DNA-dependent|regulation of T-helper cell differentiation|T cell activation|type I interferon-mediated signaling pathway	cytoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding	g.chr6:397161delC	U52682	CCDS4469.1	6p25-p23	2008-08-29			ENSG00000137265	ENSG00000137265			6119	protein-coding gene	gene with protein product		601900		MUM1		8921401, 18417578	Standard	NM_002460		Approved	LSIRF	uc003msz.4	Q15306	OTTHUMG00000016294	ENST00000380956.4:c.546delC	6.37:g.397161delC	ENSP00000370343:p.Val182fs					IRF4_ENST00000495137.1_3'UTR	p.V182fs	NM_001195286.1|NM_002460.3	NP_001182215.1|NP_002451.2	Q15306	IRF4_HUMAN		OV - Ovarian serous cystadenocarcinoma(45;0.03)|BRCA - Breast invasive adenocarcinoma(62;0.0702)	5	672	+		Breast(5;0.0155)|all_lung(73;0.0691)|all_hematologic(90;0.0895)	182					Q5VUI7|Q99660	Frame_Shift_Del	DEL	ENST00000380956.4	37	c.546delC	CCDS4469.1																																																																																				0.567	IRF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043638.1			25	119						25	119	---	---	---	---	-	397161	C	-	397161	7	5	89	1	0	1	0	1	0	0	0	0	7832	842	30	0	560	0	IRF4	6	397161	Frame_Shift_Del	DEL	C	TCGA-EJ-7327-01A-11D-2114-08		397161	170717906	12	4577											
PHACTR1	221692	broad.mit.edu	37	chr6	13206177	13206177	+	Frame_Shift_Del	DEL	G	G	-																															gtgtcctacacagcccagaaGagtggccagcagggtgtggc																										TCGA-EJ-7327-01A-11D-2114-08	TCGA-EJ-7327-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	496d38bb-e8f5-491c-943c-01739cc4a0e8	92b13aa2-eb12-433b-a744-c6f7d1d1e690	g.chr6:13206177delG	ENST00000379350.1	+	7	924	c.795delG	c.(793-795)aagfs	p.K265fs	PHACTR1_ENST00000457702.2_Frame_Shift_Del_p.K120fs|PHACTR1_ENST00000379345.2_Intron|PHACTR1_ENST00000332995.7_Frame_Shift_Del_p.K265fs			Q9C0D0	PHAR1_HUMAN	phosphatase and actin regulator 1	265					actin cytoskeleton reorganization (GO:0031532)|actomyosin structure organization (GO:0031032)|cell motility (GO:0048870)|stress fiber assembly (GO:0043149)	cell junction (GO:0030054)|cytosol (GO:0005829)|nucleus (GO:0005634)|synapse (GO:0045202)	actin binding (GO:0003779)|protein phosphatase inhibitor activity (GO:0004864)			breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	26	Breast(50;0.0427)|Ovarian(93;0.12)	all_hematologic(90;0.122)|Lung SC(78;0.195)	Epithelial(50;0.146)|BRCA - Breast invasive adenocarcinoma(129;0.239)			CAGCCCAGAAGAGTGGCCAGC	0.627																																						ENST00000379350.1																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	26						c.(793-795)aafs		phosphatase and actin regulator 1							52	61	58					6																	13206177		2082	4198	6280	SO:0001589	frameshift_variant	221692					cell junction|cytoplasm|synapse	actin binding|protein phosphatase inhibitor activity	g.chr6:13206177delG	AB051520	CCDS75401.1	6p23	2013-01-24	2004-05-20	2004-05-21	ENSG00000112137	ENSG00000112137		"Phosphatase and actin regulators"	20990	protein-coding gene	gene with protein product		608723	"RPEL repeat containing 1"	RPEL1		11214970, 15107502	Standard	NM_030948		Approved	KIAA1733, dJ257A7.2	uc010jpc.3	Q9C0D0	OTTHUMG00000014270	ENST00000379350.1:c.795delG	6.37:g.13206177delG	ENSP00000368655:p.Lys265fs					PHACTR1_ENST00000457702.2_Frame_Shift_Del_p.K120fs|PHACTR1_ENST00000332995.7_Frame_Shift_Del_p.K265fs|PHACTR1_ENST00000379345.2_Intron	p.K265fs			Q9C0D0	PHAR1_HUMAN	Epithelial(50;0.146)|BRCA - Breast invasive adenocarcinoma(129;0.239)		7	924	+	Breast(50;0.0427)|Ovarian(93;0.12)	all_hematologic(90;0.122)|Lung SC(78;0.195)	265					A8K1V2|Q3MJ93|Q5JSJ2	Frame_Shift_Del	DEL	ENST00000379350.1	37	c.795delG																																																																																					0.627	PHACTR1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000039876.1	XM_166420		18	58						18	58	---	---	---	---	-	13206177	G	-	13206177	7	5	89	1	0	1	0	1	0	0	0	0	11809	933	33	0	817	0	PHACTR1	6	13206177	Frame_Shift_Del	DEL	G	TCGA-EJ-7327-01A-11D-2114-08	12809016	13206177	157908890	13	4578											
HIST1H2AI	8329	broad.mit.edu	37	chr6	27776019	27776019	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tggcaagcagggaggcaaagCtcgcgccaaggccaagaccc	12	2	14	13	2	0	1	0	0	0	1	1	2	0	2	3	4	2	4	3	4	4	0			TCGA-EJ-7327-01A-11D-2114-08	TCGA-EJ-7327-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	496d38bb-e8f5-491c-943c-01739cc4a0e8	92b13aa2-eb12-433b-a744-c6f7d1d1e690	g.chr6:27776019C>T	ENST00000358739.3	+	1	121	c.32C>T	c.(31-33)gCt>gTt	p.A11V	HIST1H3H_ENST00000369163.2_5'Flank|HIST1H2BL_ENST00000377401.2_5'Flank	NM_003509.2	NP_003500.1	P0C0S8	H2A1_HUMAN	histone cluster 1, H2ai	11						extracellular vesicular exosome (GO:0070062)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)			lung(3)	3						GGAGGCAAAGCTCGCGCCAAG	0.547																																						ENST00000358739.3																			0				lung(3)	3						c.(31-33)gCt>gTt		histone cluster 1, H2ai							60	70	67					6																	27776019		2201	4300	6501	SO:0001583	missense	8329							g.chr6:27776019C>T	Z83742	CCDS4626.1	6p22.1	2011-01-27	2006-10-11	2003-02-28	ENSG00000196747	ENSG00000196747		"Histones / Replication-dependent"	4725	protein-coding gene	gene with protein product		602787	"H2A histone family, member C", "histone 1, H2ai"	H2AFC		9439656, 12408966	Standard	NM_003509		Approved	H2A/c		P0C0S8	OTTHUMG00000014484	ENST00000358739.3:c.32C>T	6.37:g.27776019C>T	ENSP00000351589:p.Ala11Val						p.A11V	NM_003509.2	NP_003500.1					1	121	+								P02261|Q2M1R2|Q76PA6	Missense_Mutation	SNP	ENST00000358739.3	37	c.32C>T	CCDS4626.1	.	.	.	.	.	.	.	.	.	.	.	13.48	2.251025	0.39797	.	.	ENSG00000196747	ENST00000358739	T	0.48522	0.81	4.34	4.34	0.51931	.	0.000000	0.39909	N	0.001232	T	0.40094	0.1103	.	.	.	0.35104	D	0.765483	.	.	.	.	.	.	T	0.37033	-0.9723	7	0.40728	T	0.16	.	10.4839	0.44711	0.0:0.908:0.0:0.092	.	.	.	.	V	11	ENSP00000351589:A11V	ENSP00000351589:A11V	A	+	2	0	HIST1H2AI	27883998	0.882000	0.30256	1.000000	0.80357	0.384000	0.30261	1.741000	0.38238	2.351000	0.79841	0.549000	0.68633	GCT		0.547	HIST1H2AI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040152.1	NM_003509		19	82	0	0	0	0.055883	0	19	82					T	27776019	C	T	27776019	3	4	89	1	0	0	0	0	1	0	0	0	7135	797	28	3	34	3	HIST1H2AI	6	27776019	Missense_Mutation	SNP	C	TCGA-EJ-7327-01A-11D-2114-08	14569842	27776019	143339048	14	4579											
CDC5L	988	broad.mit.edu	37	chr6	44371735	44371735	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagatttcaggaaattaagAcaacaggatcttgatgggga	15	9	12	5	0	2	3	1	1	1	2	2	6	2	6	0	4	1	1	0	4	3	3			TCGA-EJ-7327-01A-11D-2114-08	TCGA-EJ-7327-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	496d38bb-e8f5-491c-943c-01739cc4a0e8	92b13aa2-eb12-433b-a744-c6f7d1d1e690	g.chr6:44371735A>T	ENST00000371477.3	+	6	1028	c.729A>T	c.(727-729)agA>agT	p.R243S		NM_001253.3	NP_001244.1	Q99459	CDC5L_HUMAN	cell division cycle 5-like	243	Nuclear localization signal. {ECO:0000255}.				cell cycle (GO:0007049)|mRNA splicing, via spliceosome (GO:0000398)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleus (GO:0005634)|Prp19 complex (GO:0000974)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|WD40-repeat domain binding (GO:0071987)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|skin(4)	29	all_lung(25;0.00433)|Ovarian(13;0.0273)|all_hematologic(164;0.208)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			GGAAATTAAGACAACAGGATC	0.398																																						ENST00000371477.3																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|skin(4)	29						c.(727-729)agA>agT		cell division cycle 5-like							63	65	64					6																	44371735		2203	4300	6503	SO:0001583	missense	988				cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	catalytic step 2 spliceosome|cytoplasm|nuclear speck|nucleolus	DNA binding|RNA binding	g.chr6:44371735A>T	D85423	CCDS4912.1	6p21.1	2013-01-17	2013-01-17		ENSG00000096401	ENSG00000096401			1743	protein-coding gene	gene with protein product		602868	"CDC5 (cell division cycle 5, S. pombe, homolog)-like", "CDC5 cell division cycle 5-like (S. pombe)"			9598309, 9038199	Standard	NM_001253		Approved	PCDC5RP, hCDC5, CEF1, CDC5	uc003oxl.3	Q99459	OTTHUMG00000014767	ENST00000371477.3:c.729A>T	6.37:g.44371735A>T	ENSP00000360532:p.Arg243Ser						p.R243S	NM_001253.3	NP_001244.1	Q99459	CDC5L_HUMAN	Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		6	1028	+	all_lung(25;0.00433)|Ovarian(13;0.0273)|all_hematologic(164;0.208)		243					Q76N46|Q99974	Missense_Mutation	SNP	ENST00000371477.3	37	c.729A>T	CCDS4912.1	.	.	.	.	.	.	.	.	.	.	A	15.18	2.755782	0.49362	.	.	ENSG00000096401	ENST00000371477	T	0.45668	0.89	6.04	2.06	0.26882	.	0.000000	0.85682	D	0.000000	T	0.10809	0.0264	L	0.41356	1.27	0.80722	D	1	B	0.29988	0.264	B	0.24974	0.057	T	0.10730	-1.0617	10	0.25751	T	0.34	-19.5698	1.1329	0.01749	0.4341:0.2203:0.2187:0.1268	.	243	Q99459	CDC5L_HUMAN	S	243	ENSP00000360532:R243S	ENSP00000360532:R243S	R	+	3	2	CDC5L	44479713	0.905000	0.30787	1.000000	0.80357	0.997000	0.91878	-0.014000	0.12656	0.493000	0.27837	0.460000	0.39030	AGA		0.398	CDC5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040743.1			16	32	0	0	0	0.043863	0	16	32					T	44371735	A	T	44371735	3	4	89	1	0	0	0	0	1	0	0	0	3082	272	10	5	751	5	CDC5L	6	44371735	Missense_Mutation	SNP	A	TCGA-EJ-7327-01A-11D-2114-08	16595716	44371735	126743332	15	4580											
CARD11	84433	broad.mit.edu	37	chr7	2984130	2984130	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctgctgcagcttgatgacctCgttcatcaggaagtgcgtga	8	11	12	10	2	2	3	2	3	0	0	3	4	2	4	1	1	4	4	1	1	1	2			TCGA-EJ-7327-01A-11D-2114-08	TCGA-EJ-7327-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	496d38bb-e8f5-491c-943c-01739cc4a0e8	92b13aa2-eb12-433b-a744-c6f7d1d1e690	g.chr7:2984130C>T	ENST00000396946.4	-	5	803	c.400G>A	c.(400-402)Gag>Aag	p.E134K	AC004906.3_ENST00000423194.1_RNA	NM_032415.4	NP_115791.3	Q9BXL7	CAR11_HUMAN	caspase recruitment domain family, member 11	134			E -> G (in PPBL; results in protein aggregation and constitutive NFKB activation). {ECO:0000269|PubMed:23129749}.		Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|nucleotide phosphorylation (GO:0046939)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cytokine production (GO:0001819)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of T cell proliferation (GO:0042102)|regulation of apoptotic process (GO:0042981)|regulation of B cell differentiation (GO:0045577)|regulation of T cell differentiation (GO:0045580)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|thymic T cell selection (GO:0045061)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|immunological synapse (GO:0001772)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	CARD domain binding (GO:0050700)|guanylate kinase activity (GO:0004385)			NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		TTGATGACCTCGTTCATCAGG	0.602			Mis		DLBCL																																	ENST00000396946.4				Dom	yes		7	7p22	84433	Mis	"caspase recruitment domain family, member 11"			L			DLBCL		0				NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150						c.(400-402)Gag>Aag		caspase recruitment domain family, member 11							78	72	74					7																	2984130		2203	4300	6503	SO:0001583	missense	84433				positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway	cytosol|membrane raft|plasma membrane	CARD domain binding|guanylate kinase activity	g.chr7:2984130C>T	AF322641	CCDS5336.2	7p22	2014-09-17			ENSG00000198286	ENSG00000198286			16393	protein-coding gene	gene with protein product	"card-maguk protein 1", "bcl10-interacting maguk protein 3"	607210				11278692, 11356195	Standard	NM_032415		Approved	CARMA1, BIMP3	uc003smv.3	Q9BXL7	OTTHUMG00000023023	ENST00000396946.4:c.400G>A	7.37:g.2984130C>T	ENSP00000380150:p.Glu134Lys					AC004906.3_ENST00000423194.1_RNA	p.E134K	NM_032415.4	NP_115791.3	Q9BXL7	CAR11_HUMAN		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)	5	803	-		Ovarian(82;0.0115)	134					A4D1Z7|Q2NKN7|Q548H3	Missense_Mutation	SNP	ENST00000396946.4	37	c.400G>A	CCDS5336.2	.	.	.	.	.	.	.	.	.	.	C	34	5.293420	0.95546	.	.	ENSG00000198286	ENST00000396946	T	0.45668	0.89	4.24	4.24	0.50183	.	0.000000	0.85682	D	0.000000	T	0.64057	0.2564	M	0.72894	2.215	0.80722	D	1	D	0.89917	1.0	D	0.76071	0.987	T	0.69691	-0.5077	10	0.66056	D	0.02	-31.5717	17.0013	0.86382	0.0:1.0:0.0:0.0	.	134	Q9BXL7	CAR11_HUMAN	K	134	ENSP00000380150:E134K	ENSP00000380150:E134K	E	-	1	0	CARD11	2950656	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.273000	0.78527	2.071000	0.62044	0.655000	0.94253	GAG		0.602	CARD11-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059344.4	NM_032415		12	39	0	0	0	0.080935	0	12	39					T	2984130	C	T	2984130	3	4	89	1	0	0	0	0	1	0	0	0	2645	893	31	2	3148	2	CARD11	7	2984130	Missense_Mutation	SNP	C	TCGA-EJ-7327-01A-11D-2114-08		2984130	156154533	16	4581											
DNAH11	8701	broad.mit.edu	37	chr7	21882351	21882351	+	Frame_Shift_Del	DEL	T	T	-																															gtcagtattgaaaggccagaTttggagaaacttaaggtaaa																										TCGA-EJ-7327-01A-11D-2114-08	TCGA-EJ-7327-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	496d38bb-e8f5-491c-943c-01739cc4a0e8	92b13aa2-eb12-433b-a744-c6f7d1d1e690	g.chr7:21882351delT	ENST00000409508.3	+	66	10912	c.10881delT	c.(10879-10881)gatfs	p.D3627fs	DNAH11_ENST00000328843.6_Frame_Shift_Del_p.D3634fs	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	3634	AAA 5. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						AAAGGCCAGATTTGGAGAAAC	0.423									Kartagener syndrome																													ENST00000328843.6																			0				NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						c.(10900-10902)gafs		dynein, axonemal, heavy chain 11							34	32	32					7																	21882351		1889	4125	6014	SO:0001589	frameshift_variant	8701	Kartagener syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr7:21882351delT	U83569	CCDS64602.1	7p21	2008-07-18	2006-09-04					"Axonemal dyneins"	2942	protein-coding gene	gene with protein product	"dynein, ciliary, heavy chain 11", "dynein, heavy chain beta-like"	603339	"dynein, axonemal, heavy polypeptide 11"			9256245	Standard	NM_001277115		Approved	Dnahc11, DPL11, CILD7, DNAHC11, DNAHBL, DNHBL	uc031swp.1	Q96DT5		ENST00000409508.3:c.10881delT	7.37:g.21882351delT	ENSP00000475939:p.Asp3627fs					DNAH11_ENST00000409508.3_Frame_Shift_Del_p.D3627fs	p.D3634fs			Q96DT5	DYH11_HUMAN			67	10933	+			3634			AAA 5 (By similarity).		Q9UJ82	Frame_Shift_Del	DEL	ENST00000409508.3	37	c.10902delT																																																																																					0.423	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000326582.6	NM_003777		2	4						2	4	---	---	---	---	-	21882351	T	-	21882351	7	5	89	1	0	1	0	1	0	0	0	0	4599	1490	52	0	11165	0	DNAH11	7	21882351	Frame_Shift_Del	DEL	T	TCGA-EJ-7327-01A-11D-2114-08	18898221	21882351	137256312	17	4582											
CA8	767	broad.mit.edu	37	chr8	61178528	61178528	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaccgtgtgctcagaaccacGctggttttctcttccccagt	7	12	8	14	2	2	1	1	0	1	1	4	1	3	1	4	1	3	3	4	1	2	3			TCGA-EJ-7327-01A-11D-2114-08	TCGA-EJ-7327-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	496d38bb-e8f5-491c-943c-01739cc4a0e8	92b13aa2-eb12-433b-a744-c6f7d1d1e690	g.chr8:61178528G>A	ENST00000317995.4	-	3	637	c.373C>T	c.(373-375)Cgt>Tgt	p.R125C		NM_004056.4	NP_004047.3	P35219	CAH8_HUMAN	carbonic anhydrase VIII	125					one-carbon metabolic process (GO:0006730)|phosphatidylinositol-mediated signaling (GO:0048015)	cytoplasm (GO:0005737)	carbonate dehydratase activity (GO:0004089)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(5)|lung(6)|prostate(2)|skin(1)	16		all_cancers(86;0.172)|all_epithelial(80;0.0383)|all_lung(136;0.0413)|Lung NSC(129;0.0474)			Zonisamide(DB00909)	TCAGAACCACGCTGGTTTTCT	0.383																																						ENST00000317995.4																			0				endometrium(2)|large_intestine(5)|lung(6)|prostate(2)|skin(1)	16						c.(373-375)Cgt>Tgt		carbonic anhydrase VIII							79	76	77					8																	61178528		2203	4300	6503	SO:0001583	missense	767				one-carbon metabolic process		carbonate dehydratase activity|zinc ion binding	g.chr8:61178528G>A	L04656	CCDS6174.1	8q12.1	2012-08-21			ENSG00000178538	ENSG00000178538		"Carbonic anhydrases"	1382	protein-coding gene	gene with protein product		114815		CALS		17219437	Standard	NM_004056		Approved	CARP	uc003xtz.1	P35219	OTTHUMG00000165325	ENST00000317995.4:c.373C>T	8.37:g.61178528G>A	ENSP00000314407:p.Arg125Cys						p.R125C	NM_004056.4	NP_004047.3	P35219	CAH8_HUMAN			3	637	-		all_cancers(86;0.172)|all_epithelial(80;0.0383)|all_lung(136;0.0413)|Lung NSC(129;0.0474)	125					A8K0A5|B3KQZ7|Q32MY2	Missense_Mutation	SNP	ENST00000317995.4	37	c.373C>T	CCDS6174.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.310698	0.81358	.	.	ENSG00000178538	ENST00000317995	T	0.68025	-0.3	5.58	5.58	0.84498	Carbonic anhydrase, alpha-class, catalytic domain (4);	0.000000	0.85682	D	0.000000	D	0.83128	0.5187	M	0.80028	2.48	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.81788	-0.0772	10	0.37606	T	0.19	.	19.5923	0.95520	0.0:0.0:1.0:0.0	.	125	P35219	CAH8_HUMAN	C	125	ENSP00000314407:R125C	ENSP00000314407:R125C	R	-	1	0	CA8	61341082	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.197000	0.72100	2.644000	0.89710	0.557000	0.71058	CGT		0.383	CA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383445.1			5	24	0	0	0	0.02938	0	5	24					A	61178528	G	A	61178528	3	1	89	1	0	0	0	0	1	0	0	0	2523	1087	38	1	523	1	CA8	8	61178528	Missense_Mutation	SNP	G	TCGA-EJ-7327-01A-11D-2114-08		61178528	85185494	18	4583											
DNAJB5	25822	broad.mit.edu	37	chr9	34997172	34997172	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccaactcagcgaggagacctCattgttgagttcaaagttcg	11	10	10	10	2	3	2	3	1	0	1	4	4	3	2	2	1	2	3	2	1	2	4			TCGA-EJ-7327-01A-11D-2114-08	TCGA-EJ-7327-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	496d38bb-e8f5-491c-943c-01739cc4a0e8	92b13aa2-eb12-433b-a744-c6f7d1d1e690	g.chr9:34997172C>T	ENST00000541010.1	+	3	3975	c.963C>T	c.(961-963)ctC>ctT	p.L321L	DNAJB5_ENST00000453597.3_Silent_p.L435L|DNAJB5_ENST00000454002.2_Silent_p.L393L|DNAJB5_ENST00000545841.1_Silent_p.L321L|DNAJB5_ENST00000335998.3_Silent_p.L355L|DNAJB5_ENST00000312316.5_Silent_p.L321L			O75953	DNJB5_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 5	321					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|protein folding (GO:0006457)|response to unfolded protein (GO:0006986)	cytosol (GO:0005829)|nucleus (GO:0005634)	chaperone binding (GO:0051087)			kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	12			LUSC - Lung squamous cell carcinoma(32;0.00575)			GAGGAGACCTCATTGTTGAGT	0.547																																						ENST00000541010.1																			0				kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	12						c.(961-963)ctC>ctT		DnaJ (Hsp40) homolog, subfamily B, member 5							135	132	133					9																	34997172		2203	4300	6503	SO:0001819	synonymous_variant	25822				protein folding|response to unfolded protein		heat shock protein binding|unfolded protein binding	g.chr9:34997172C>T	AF088982	CCDS35007.1, CCDS47959.1, CCDS47960.1, CCDS47960.2	9p	2011-09-02			ENSG00000137094	ENSG00000137094		"Heat shock proteins / DNAJ (HSP40)"	14887	protein-coding gene	gene with protein product		611328				10570961, 11147971	Standard	NM_001135004		Approved	Hsc40	uc003zvs.4	O75953	OTTHUMG00000019840	ENST00000541010.1:c.963C>T	9.37:g.34997172C>T						DNAJB5_ENST00000335998.3_Silent_p.L355L|DNAJB5_ENST00000454002.2_Silent_p.L393L|DNAJB5_ENST00000312316.5_Silent_p.L321L|DNAJB5_ENST00000453597.3_Silent_p.L435L|DNAJB5_ENST00000545841.1_Silent_p.L321L	p.L321L			O75953	DNJB5_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00575)		3	3975	+			321					B3KN14|B4DSA6|J3KQM9|J3KR08|Q5T656|Q8TDR7|Q96EM4	Silent	SNP	ENST00000541010.1	37	c.963C>T	CCDS35007.1																																																																																				0.547	DNAJB5-008	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401397.1			33	54	0	0	0	0.059317	0	33	54					T	34997172	C	T	34997172	2	4	89	1	0	0	0	0	0	0	0	1	4623	813	29	3		3	DNAJB5	9	34997172	Silent	SNP	C	TCGA-EJ-7327-01A-11D-2114-08		34997172	106216259	19	4584											
SLC16A12	387700	broad.mit.edu	37	chr10	91222287	91222287	+	5'UTR	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccaggttgctccaacagccAagttatgatcttggaagagt	11	11	10	9	0	1	2	0	1	1	1	3	3	3	3	3	2	3	3	3	2	4	3	rs3740030	byFrequency	TCGA-EJ-7327-01A-11D-2114-08	TCGA-EJ-7327-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	496d38bb-e8f5-491c-943c-01739cc4a0e8	92b13aa2-eb12-433b-a744-c6f7d1d1e690	g.chr10:91222287A>C	ENST00000341233.4	-	0	349				RP11-168O10.6_ENST00000423474.1_RNA|SLC16A12_ENST00000371790.4_Missense_Mutation_p.W17G|RP11-168O10.6_ENST00000454270.1_RNA	NM_213606.3	NP_998771.3	Q6ZSM3	MOT12_HUMAN	solute carrier family 16, member 12							integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	symporter activity (GO:0015293)			central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(4)|skin(1)|stomach(1)	14						TCCAACAGCCAAGTTATGATC	0.478													A|||	345	0.0688898	0.0045	0.0375	5008	,	,		19194	0.2242		0.0736	False		,,,				2504	0.0133					ENST00000371790.4																			0				central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(4)|skin(1)|stomach(1)	14						c.(49-51)Tgg>Ggg		solute carrier family 16, member 12		A	GLY/TRP	97,4309	61.1+/-98.1	2,93,2108	39	37	38		49	0.6	0.5	10	dbSNP_107	38	731,7869	140.3+/-196.8	37,657,3606	yes	missense	SLC16A12	NM_213606.3	184	39,750,5714	CC,CA,AA		8.5,2.2015,6.3663		17/517	91222287	828,12178	2203	4300	6503	SO:0001623	5_prime_UTR_variant	387700					integral to membrane|plasma membrane	symporter activity	g.chr10:91222287A>C		CCDS7404.1, CCDS7404.2	10q23.32	2013-07-18	2013-07-18		ENSG00000152779	ENSG00000152779		"Solute carriers"	23094	protein-coding gene	gene with protein product	"monocarboxylic acid transporter 12"	611910	"solute carrier family 16 (monocarboxylic acid transporters), member 12", "solute carrier family 16, member 12 (monocarboxylic acid transporter 12)"				Standard	NM_213606		Approved	MCT12	uc001kgm.3	Q6ZSM3	OTTHUMG00000018714	ENST00000341233.4:c.-42T>G	10.37:g.91222287A>C						SLC16A12_ENST00000341233.4_5'UTR|RP11-168O10.6_ENST00000454270.1_RNA	p.W17G			Q6ZSM3	MOT12_HUMAN			3	349	-			0					Q5M9M9|Q5T7J2|Q6ZV76	Missense_Mutation	SNP	ENST00000341233.4	37	c.49T>G		196	0.08974358974358974	1	0.0020325203252032522	18	0.049723756906077346	121	0.21153846153846154	56	0.07387862796833773	A	7.041	0.562625	0.13498	0.022015	0.085	ENSG00000152779	ENST00000371790;ENST00000475682	T	0.18657	2.2	5.66	0.616	0.17613	.	.	.	.	.	T	0.00012	0.0000	N	0.08118	0	0.51233	P	8.20000000000265E-5	.	.	.	.	.	.	T	0.45396	-0.9264	6	0.26408	T	0.33	.	9.0335	0.36273	0.2463:0.6418:0.0:0.1119	rs3740030;rs17122031;rs56505202;rs59939587;rs3740030	.	.	.	G	17	ENSP00000360855:W17G	ENSP00000360855:W17G	W	-	1	0	SLC16A12	91212267	0.766000	0.28496	0.496000	0.27539	0.171000	0.22731	0.772000	0.26647	0.530000	0.28619	-0.265000	0.10407	TGG		0.478	SLC16A12-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_213606		2	11	0	0	0	0.004672	0	2	11					C	91222287	A	C	91222287	1	2	89	0	1	0	0	0	0	0	0	0	14405	130	5	5		5	SLC16A12	10	91222287	5'UTR	SNP	A	TCGA-EJ-7327-01A-11D-2114-08		91222287	44312460	20	4585											
JAKMIP3	282973	broad.mit.edu	37	chr10	133949433	133949433	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acatagtgcgttgtctttcaGttgaagcgcgtaagagaagc	11	11	12	7	3	2	2	1	1	1	1	2	3	2	2	0	0	3	3	0	0	4	5			TCGA-EJ-7327-01A-11D-2114-08	TCGA-EJ-7327-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	496d38bb-e8f5-491c-943c-01739cc4a0e8	92b13aa2-eb12-433b-a744-c6f7d1d1e690	g.chr10:133949433G>T	ENST00000298622.4	+	5	1107		c.e5-1			NM_001105521.2	NP_001098991.1	Q5VZ66	JKIP3_HUMAN	Janus kinase and microtubule interacting protein 3							Golgi apparatus (GO:0005794)				breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	31		all_cancers(35;5.63e-09)|all_epithelial(44;9.25e-07)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|Colorectal(31;0.0721)|all_neural(114;0.0726)|Breast(234;0.0949)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;0.000104)|Epithelial(32;0.000142)|all cancers(32;0.000185)|BRCA - Breast invasive adenocarcinoma(275;0.224)		TTGTCTTTCAGTTGAAGCGCG	0.507																																						ENST00000298622.4																			0				breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	31						c.e5-1		Janus kinase and microtubule interacting protein 3							55	61	59					10																	133949433		2022	4173	6195	SO:0001630	splice_region_variant	282973							g.chr10:133949433G>T	AL832756	CCDS44494.1	10q26.3	2009-04-23	2009-04-23	2008-01-28	ENSG00000188385	ENSG00000188385			23523	protein-coding gene	gene with protein product	"neuroendocrine long coiled-coil 2"	611198	"chromosome 10 open reading frame 39", "chromosome 10 open reading frame 14"	C10orf39, C10orf14		15277531, 17572408	Standard	NM_001105521		Approved	FLJ37857, NECC2, KIAA4091, bA140A10.5	uc001lkx.4	Q5VZ66	OTTHUMG00000150167	ENST00000298622.4:c.970-1G>T	10.37:g.133949433G>T								NM_001105521.2	NP_001098991.1				OV - Ovarian serous cystadenocarcinoma(35;0.000104)|Epithelial(32;0.000142)|all cancers(32;0.000185)|BRCA - Breast invasive adenocarcinoma(275;0.224)	5	1107	+		all_cancers(35;5.63e-09)|all_epithelial(44;9.25e-07)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|Colorectal(31;0.0721)|all_neural(114;0.0726)|Breast(234;0.0949)|Glioma(114;0.172)|Melanoma(40;0.175)						A6PW00|Q69YM6|Q6ZT29	Splice_Site	SNP	ENST00000298622.4	37		CCDS44494.1	.	.	.	.	.	.	.	.	.	.	G	15.13	2.741026	0.49151	.	.	ENSG00000188385	ENST00000298622	.	.	.	4.24	4.24	0.50183	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.8328	0.85949	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	JAKMIP3	133799423	1.000000	0.71417	0.983000	0.44433	0.307000	0.27823	9.087000	0.94110	2.210000	0.71456	0.650000	0.86243	.		0.507	JAKMIP3-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051049.3	NM_194303	Intron	3	12	1	0	0.004672	0.004672	0.0065408	3	12					T	133949433	G	T	133949433	5	4	89	1	0	0	0	0	0	0	1	0	7942	1043	36	5	987	5	JAKMIP3	10	133949433	Splice_Site	SNP	G	TCGA-EJ-7327-01A-11D-2114-08	42727146	133949433	1585314	21	4586											
NLRP10	338322	broad.mit.edu	37	chr11	7982637	7982637	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gttgtctttccagtgccagcCgacccctgtagcacaactaa	9	10	8	14	1	1	0	0	0	1	0	2	1	2	0	5	0	4	3	5	0	3	4			TCGA-EJ-7327-01A-11D-2114-08	TCGA-EJ-7327-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	496d38bb-e8f5-491c-943c-01739cc4a0e8	92b13aa2-eb12-433b-a744-c6f7d1d1e690	g.chr11:7982637C>T	ENST00000328600.2	-	2	683	c.522G>A	c.(520-522)tcG>tcA	p.S174S		NM_176821.3	NP_789791.1	Q86W26	NAL10_HUMAN	NLR family, pyrin domain containing 10	174	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				defense response to fungus (GO:0050832)|defense response to Gram-negative bacterium (GO:0050829)|dendritic cell migration (GO:0036336)|helper T cell enhancement of adaptive immune response (GO:0035397)|innate immune response (GO:0045087)|positive regulation of interleukin-6 secretion (GO:2000778)|positive regulation of interleukin-8 secretion (GO:2000484)|positive regulation of T-helper 1 type immune response (GO:0002827)|positive regulation of T-helper 17 type immune response (GO:2000318)	cytoplasm (GO:0005737)|extrinsic component of plasma membrane (GO:0019897)	ATP binding (GO:0005524)			breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		CAGTGCCAGCCGACCCCTGTA	0.542																																						ENST00000328600.2																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						c.(520-522)tcG>tcA		NLR family, pyrin domain containing 10							52	54	53					11																	7982637		2201	4296	6497	SO:0001819	synonymous_variant	338322						ATP binding	g.chr11:7982637C>T	AY154465	CCDS7784.1	11p15.4	2006-12-08	2006-12-08	2006-12-08		ENSG00000182261		"Nucleotide-binding domain and leucine rich repeat containing"	21464	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 10"	609662	"NACHT, leucine rich repeat and PYD containing 10"	NALP10		12563287	Standard	NM_176821		Approved	NOD8, PAN5, Pynod, CLR11.1	uc001mfv.1	Q86W26		ENST00000328600.2:c.522G>A	11.37:g.7982637C>T							p.S174S	NM_176821.3	NP_789791.1	Q86W26	NAL10_HUMAN		Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)	2	683	-			174			NACHT.		Q2M3C4|Q6JGT0	Silent	SNP	ENST00000328600.2	37	c.522G>A	CCDS7784.1																																																																																				0.542	NLRP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385705.1	NM_176821		6	28	0	0	0	0.021553	0	6	28					T	7982637	C	T	7982637	2	4	89	1	0	0	0	0	0	0	0	1	10472	639	23	2		2	NLRP10	11	7982637	Silent	SNP	C	TCGA-EJ-7327-01A-11D-2114-08		7982637	127023879	22	4587											
IL10RA	3587	broad.mit.edu	37	chr11	117864087	117864087	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcttcagtcacttccgagagTatgagattgccattcgcaag	10	12	9	10	2	3	2	2	1	1	2	5	4	4	2	2	0	1	2	2	0	2	5			TCGA-EJ-7327-01A-11D-2114-08	TCGA-EJ-7327-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	496d38bb-e8f5-491c-943c-01739cc4a0e8	92b13aa2-eb12-433b-a744-c6f7d1d1e690	g.chr11:117864087T>C	ENST00000227752.3	+	4	619	c.499T>C	c.(499-501)Tat>Cat	p.Y167H	IL10RA_ENST00000545409.1_Missense_Mutation_p.Y18H|IL10RA_ENST00000541785.1_Missense_Mutation_p.Y147H|IL10RA_ENST00000533700.1_3'UTR	NM_001558.3	NP_001549.2	Q13651	I10R1_HUMAN	interleukin 10 receptor, alpha	167					cytokine-mediated signaling pathway (GO:0019221)|response to lipopolysaccharide (GO:0032496)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	interleukin-10 receptor activity (GO:0004920)|receptor activity (GO:0004872)|signal transducer activity (GO:0004871)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(2)|prostate(1)	19	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.07e-05)|Epithelial(105;0.00108)		CTTCCGAGAGTATGAGATTGC	0.567																																						ENST00000227752.3																			0				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(2)|prostate(1)	19						c.(499-501)Tat>Cat		interleukin 10 receptor, alpha							91	81	84					11																	117864087		2200	4296	6496	SO:0001583	missense	3587					integral to membrane|plasma membrane	interleukin-10 receptor activity	g.chr11:117864087T>C	U00672	CCDS8388.1	11q23	2014-09-17			ENSG00000110324	ENSG00000110324		"Interleukins and interleukin receptors", "CD molecules"	5964	protein-coding gene	gene with protein product		146933		IL10R		8120391	Standard	NR_026691		Approved	HIL-10R, CDW210A, CD210a, CD210	uc001prv.3	Q13651	OTTHUMG00000166523	ENST00000227752.3:c.499T>C	11.37:g.117864087T>C	ENSP00000227752:p.Tyr167His					IL10RA_ENST00000545409.1_Missense_Mutation_p.Y18H|IL10RA_ENST00000533700.1_3'UTR|IL10RA_ENST00000541785.1_Missense_Mutation_p.Y147H	p.Y167H	NM_001558.3	NP_001549.2	Q13651	I10R1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.07e-05)|Epithelial(105;0.00108)	4	619	+	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)	167					A8K6I0|B0YJ27	Missense_Mutation	SNP	ENST00000227752.3	37	c.499T>C	CCDS8388.1	.	.	.	.	.	.	.	.	.	.	T	22.5	4.299383	0.81136	.	.	ENSG00000110324	ENST00000227752;ENST00000541785;ENST00000545409;ENST00000536858	T;T;T	0.61158	0.13;0.13;0.13	5.73	5.73	0.89815	Fibronectin, type III (1);Immunoglobulin-like fold (1);	0.277263	0.36591	N	0.002518	T	0.73830	0.3637	M	0.71581	2.175	0.34192	D	0.672172	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.82950	-0.0203	10	0.72032	D	0.01	-18.2164	12.4071	0.55445	0.0:0.0:0.0:1.0	.	147;167	F5GYV8;Q13651	.;I10R1_HUMAN	H	167;147;18;147	ENSP00000227752:Y167H;ENSP00000441397:Y147H;ENSP00000443019:Y18H	ENSP00000227752:Y167H	Y	+	1	0	IL10RA	117369297	1.000000	0.71417	0.386000	0.26170	0.991000	0.79684	3.633000	0.54295	2.180000	0.69256	0.533000	0.62120	TAT		0.567	IL10RA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390167.1			3	55	0	0	0	0.004672	0	3	55					C	117864087	T	C	117864087	3	2	89	1	0	0	0	0	1	0	0	0	7620	1638	57	4	513	4	IL10RA	11	117864087	Missense_Mutation	SNP	T	TCGA-EJ-7327-01A-11D-2114-08	109881450	117864087	17142429	23	4588											
TUBA3C	7278	broad.mit.edu	37	chr13	19748253	19748253	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcccgctgcaccttggccAggtctcccccagggaccacc	6	5	10	20	1	1	0	0	0	1	0	2	1	1	1	7	3	2	2	7	3	0	1			TCGA-EJ-7327-01A-11D-2114-08	TCGA-EJ-7327-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	496d38bb-e8f5-491c-943c-01739cc4a0e8	92b13aa2-eb12-433b-a744-c6f7d1d1e690	g.chr13:19748253A>T	ENST00000400113.3	-	5	1207	c.1103T>A	c.(1102-1104)cTg>cAg	p.L368Q		NM_006001.2	NP_005992.1	Q13748	TBA3C_HUMAN	tubulin, alpha 3c	368					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|microtubule-based process (GO:0007017)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(4)|prostate(7)|skin(7)|urinary_tract(1)	72		all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108)		CACCTTGGCCAGGTCTCCCCC	0.582																																						ENST00000400113.3																			0				NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(4)|prostate(7)|skin(7)|urinary_tract(1)	72						c.(1102-1104)cTg>cAg		tubulin, alpha 3c							58	56	57					13																	19748253		2203	4300	6503	SO:0001583	missense	7278				'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity	g.chr13:19748253A>T	AF005392	CCDS9284.1	13q12.11	2007-06-20	2007-02-12	2007-02-12	ENSG00000198033	ENSG00000198033		"Tubulins"	12408	protein-coding gene	gene with protein product		602528	"tubulin, alpha 2"	TUBA2		9465305	Standard	NM_006001		Approved	bA408E5.3	uc009zzj.3	Q13748	OTTHUMG00000016481	ENST00000400113.3:c.1103T>A	13.37:g.19748253A>T	ENSP00000382982:p.Leu368Gln						p.L368Q	NM_006001.2	NP_005992.1	Q13748	TBA3C_HUMAN		all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108)	5	1207	-		all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162)	368					A6NJQ0|Q5W099|Q6PEY3|Q96F18	Missense_Mutation	SNP	ENST00000400113.3	37	c.1103T>A	CCDS9284.1	.	.	.	.	.	.	.	.	.	.	a	11.73	1.725571	0.30593	.	.	ENSG00000198033	ENST00000400113;ENST00000360801	D	0.85484	-1.99	1.22	1.22	0.21188	.	0.000000	0.38605	U	0.001636	D	0.85864	0.5796	.	.	.	0.45108	D	0.99812	.	.	.	.	.	.	D	0.84239	0.0471	7	0.87932	D	0	.	6.5693	0.22529	1.0:0.0:0.0:0.0	.	.	.	.	Q	368	ENSP00000382982:L368Q	ENSP00000354037:L368Q	L	-	2	0	TUBA3C	18646253	1.000000	0.71417	0.999000	0.59377	0.670000	0.39368	7.534000	0.82004	0.813000	0.34350	0.163000	0.16589	CTG		0.582	TUBA3C-002	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044007.2	NM_006001		16	53	0	0	0	0.028581	0	16	53					T	19748253	A	T	19748253	3	4	89	1	0	0	0	0	1	0	0	0	16743	188	7	5	253	5	TUBA3C	13	19748253	Missense_Mutation	SNP	A	TCGA-EJ-7327-01A-11D-2114-08		19748253	95421625	24	4589											
MTUS2	23281	broad.mit.edu	37	chr13	29600340	29600340	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcacgggaaagcaaagaggTcaccacatctgttgctgaaa	15	6	11	9	1	2	2	1	1	1	1	2	3	2	3	1	2	3	4	1	2	3	1	rs199993580		TCGA-EJ-7327-01A-11D-2114-08	TCGA-EJ-7327-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	496d38bb-e8f5-491c-943c-01739cc4a0e8	92b13aa2-eb12-433b-a744-c6f7d1d1e690	g.chr13:29600340T>A	ENST00000431530.3	+	1	1593	c.1535T>A	c.(1534-1536)gTc>gAc	p.V512D		NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN	microtubule associated tumor suppressor candidate 2	502						cytoplasm (GO:0005737)|microtubule (GO:0005874)	microtubule binding (GO:0008017)|protein homodimerization activity (GO:0042803)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						AGCAAAGAGGTCACCACATCT	0.493																																						ENST00000431530.3																			0				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						c.(1534-1536)gTc>gAc		microtubule associated tumor suppressor candidate 2		T	ASP/VAL	0,3958		0,0,1979	86	91	89		1535	0.6	0	13		89	4,8308		0,4,4152	yes	missense	MTUS2	NM_001033602.2	152	0,4,6131	AA,AT,TT		0.0481,0.0,0.0326	benign	512/1380	29600340	4,12266	1979	4156	6135	SO:0001583	missense	23281					cytoplasm|microtubule	microtubule binding|protein homodimerization activity	g.chr13:29600340T>A	AB018317	CCDS41874.1, CCDS45022.1	13q12.3	2013-01-17	2009-10-20	2009-10-20	ENSG00000132938	ENSG00000132938			20595	protein-coding gene	gene with protein product	"+TIP of 150 kDa", "cardiac zipper protein"		"KIAA0774"	KIAA0774		19543227	Standard	NM_001033602		Approved	TIP150, CAZIP, ICIS	uc001usl.4	Q5JR59	OTTHUMG00000016657	ENST00000431530.3:c.1535T>A	13.37:g.29600340T>A	ENSP00000392057:p.Val512Asp						p.V512D	NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN			1	1593	+			502					A7E292|B4DF81|O94872|Q08E97|Q5JQR3|Q8N5E2	Missense_Mutation	SNP	ENST00000431530.3	37	c.1535T>A	CCDS45022.1	.	.	.	.	.	.	.	.	.	.	t	12.03	1.815657	0.32145	0.0	4.81E-4	ENSG00000132938	ENST00000431530	T	0.12569	2.67	5.92	0.654	0.17833	.	1.542390	0.03750	N	0.256352	T	0.07143	0.0181	N	0.08118	0	0.09310	N	1	B	0.20459	0.045	B	0.23275	0.045	T	0.34428	-0.9829	9	.	.	.	.	4.0154	0.09641	0.0:0.3151:0.1835:0.5013	.	502	Q5JR59	MTUS2_HUMAN	D	512	ENSP00000392057:V512D	.	V	+	2	0	MTUS2	28498340	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.271000	0.08572	0.121000	0.18284	0.533000	0.62120	GTC		0.493	MTUS2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000044336.3	XM_166270		6	19	0	0	0	0.021553	0	6	19					A	29600340	T	A	29600340	3	1	89	1	0	0	0	0	1	0	0	0	9966	1667	58	5	1537	5	MTUS2	13	29600340	Missense_Mutation	SNP	T	TCGA-EJ-7327-01A-11D-2114-08	9852087	29600340	85569538	25	4590											
SCN4A	6329	broad.mit.edu	37	chr17	62022975	62022975	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcatgatggaggggatggcGcctaggagggcgttcaccac	8	8	16	9	2	2	1	2	1	0	0	2	4	2	4	2	6	0	1	2	6	1	3	rs566581547		TCGA-EJ-7327-01A-11D-2114-08	TCGA-EJ-7327-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	496d38bb-e8f5-491c-943c-01739cc4a0e8	92b13aa2-eb12-433b-a744-c6f7d1d1e690	g.chr17:62022975G>A	ENST00000435607.1	-	19	3541	c.3465C>T	c.(3463-3465)ggC>ggT	p.G1155G	SCN4A_ENST00000578147.1_Silent_p.G1155G	NM_000334.4	NP_000325.4	P35499	SCN4A_HUMAN	sodium channel, voltage-gated, type IV, alpha subunit	1155					membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Diclofenac(DB00586)|Flecainide(DB01195)|Propofol(DB00818)|Valproic Acid(DB00313)|Zonisamide(DB00909)	AGGGGATGGCGCCTAGGAGGG	0.592													g|||	1	0.000199681	0	0	5008	,	,		16258	0.001		0	False		,,,				2504	0					ENST00000435607.1																			0				breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101						c.(3463-3465)ggC>ggT		sodium channel, voltage-gated, type IV, alpha subunit	Lamotrigine(DB00555)						133	137	136					17																	62022975		2200	4299	6499	SO:0001819	synonymous_variant	6329				muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr17:62022975G>A	U24693		17q23.3	2012-02-26	2007-01-23					"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10591	protein-coding gene	gene with protein product		603967		HYKPP		1654742, 1659948, 16382098	Standard	XM_005257566		Approved	Nav1.4, HYPP, SkM1	uc002jds.1	P35499		ENST00000435607.1:c.3465C>T	17.37:g.62022975G>A						SCN4A_ENST00000578147.1_Silent_p.G1155G	p.G1155G	NM_000334.4	NP_000325.4	P35499	SCN4A_HUMAN			19	3541	-			1155					Q15478|Q16447|Q7Z6B1	Silent	SNP	ENST00000435607.1	37	c.3465C>T	CCDS45761.1																																																																																				0.592	SCN4A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_000334		25	120	0	0	0	0.0918	0	25	120					A	62022975	G	A	62022975	2	1	89	1	0	0	0	0	0	0	0	1	13920	1074	38	1		1	SCN4A	17	62022975	Silent	SNP	G	TCGA-EJ-7327-01A-11D-2114-08		62022975	19172235	26	4591											
UQCR10	29796	broad.mit.edu	37	chr22	30163414	30163414	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gccgcgacgttgacttcgaaAttgtactccctgctgttccg	6	12	10	13	5	0	1	0	1	0	0	3	3	2	1	3	0	2	4	3	0	2	5	rs17849991		TCGA-EJ-7327-01A-11D-2114-08	TCGA-EJ-7327-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	496d38bb-e8f5-491c-943c-01739cc4a0e8	92b13aa2-eb12-433b-a744-c6f7d1d1e690	g.chr22:30163414A>G	ENST00000330029.6	+	1	57	c.27A>G	c.(25-27)aaA>aaG	p.K9K	UQCR10_ENST00000401406.3_Silent_p.K9K|ZMAT5_ENST00000344318.3_5'Flank|ZMAT5_ENST00000397781.3_5'Flank	NM_001003684.1|NM_013387.3	NP_001003684.1|NP_037519.2	Q9UDW1	QCR9_HUMAN	ubiquinol-cytochrome c reductase, complex III subunit X	9					cellular metabolic process (GO:0044237)|hydrogen ion transmembrane transport (GO:1902600)|mitochondrial electron transport, ubiquinol to cytochrome c (GO:0006122)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex III (GO:0005750)	ubiquinol-cytochrome-c reductase activity (GO:0008121)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|ovary(1)	5						TGACTTCGAAATTGTACTCCC	0.627																																						ENST00000330029.6																			0				breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|ovary(1)	5						c.(25-27)aaA>aaG		ubiquinol-cytochrome c reductase, complex III subunit X							53	61	59					22																	30163414		2053	4193	6246	SO:0001819	synonymous_variant	29796				mitochondrial electron transport, ubiquinol to cytochrome c	mitochondrial inner membrane|respiratory chain	ubiquinol-cytochrome-c reductase activity	g.chr22:30163414A>G	AB028598	CCDS46680.1, CCDS46681.1	22q12.2	2011-07-04			ENSG00000184076	ENSG00000184076		"Mitochondrial respiratory chain complex / Complex III"	30863	protein-coding gene	gene with protein product	"ubiquinol-cytochrome c reductase, complex III subunit X, 7.2kDa", "complex III subunit 9"	610843				11042152	Standard	NM_013387		Approved	HSPC051, UCRC, QCR9, UCCR7.2	uc003agq.1	Q9UDW1	OTTHUMG00000151283	ENST00000330029.6:c.27A>G	22.37:g.30163414A>G						UQCR10_ENST00000401406.3_Silent_p.K9K	p.K9K	NM_001003684.1|NM_013387.3	NP_001003684.1|NP_037519.2	Q9UDW1	QCR9_HUMAN			1	57	+			9					B5MCM5|Q9T2V6	Silent	SNP	ENST00000330029.6	37	c.27A>G	CCDS46680.1																																																																																				0.627	UQCR10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322081.1	NM_013387		5	25	0	0	0	0.02938	0	5	25					G	30163414	A	G	30163414	2	3	89	1	0	0	0	0	0	0	0	1	17013	98	4	4		4	UQCR10	22	30163414	Silent	SNP	A	TCGA-EJ-7327-01A-11D-2114-08		30163414	21141152	27	4592											
WWC3	55841	broad.mit.edu	37	chrX	10058810	10058810	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgatttttctgttttaactaGgattgatcggaagatgtcaa	11	17	9	4	1	2	3	1	2	1	1	3	5	2	5	0	2	1	1	0	2	4	6			TCGA-EJ-7327-01A-11D-2114-08	TCGA-EJ-7327-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	496d38bb-e8f5-491c-943c-01739cc4a0e8	92b13aa2-eb12-433b-a744-c6f7d1d1e690	g.chrX:10058810G>A	ENST00000380861.4	+	6	768		c.e6-1		WWC3_ENST00000454666.1_Splice_Site	NM_015691.3	NP_056506.2	Q9ULE0	WWC3_HUMAN	WWC family member 3						negative regulation of hippo signaling (GO:0035331)|negative regulation of organ growth (GO:0046621)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	cytosol (GO:0005829)	kinase binding (GO:0019900)|protein complex scaffold (GO:0032947)			NS(1)|breast(3)|endometrium(10)|kidney(1)|large_intestine(11)|lung(17)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	52						GTTTTAACTAGGATTGATCGG	0.423																																						ENST00000380861.4																			0				NS(1)|breast(3)|endometrium(10)|kidney(1)|large_intestine(11)|lung(17)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	52						c.e6-1		WWC family member 3							77	68	71					X																	10058810		2203	4300	6503	SO:0001630	splice_region_variant	55841							g.chrX:10058810G>A	AK091936	CCDS14136.1	Xp22.32	2008-02-05			ENSG00000047644	ENSG00000047644		"WW, C2 and coiled-coil domain containing"	29237	protein-coding gene	gene with protein product						10574462	Standard	NM_015691		Approved	KIAA1280, BM042	uc004csx.4	Q9ULE0	OTTHUMG00000021123	ENST00000380861.4:c.378-1G>A	X.37:g.10058810G>A						WWC3_ENST00000454666.1_Splice_Site		NM_015691.3	NP_056506.2	Q9ULE0	WWC3_HUMAN			6	768	+								A8KA96|Q659C1|Q9BTQ1	Splice_Site	SNP	ENST00000380861.4	37		CCDS14136.1	.	.	.	.	.	.	.	.	.	.	G	14.78	2.638663	0.47153	.	.	ENSG00000047644	ENST00000380861;ENST00000454666;ENST00000398613	.	.	.	4.75	4.75	0.60458	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.2464	0.87029	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	WWC3	10018810	1.000000	0.71417	1.000000	0.80357	0.312000	0.27988	9.284000	0.95882	2.082000	0.62665	0.506000	0.49869	.		0.423	WWC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055725.1	NM_015691	Intron	9	13	0	0	0	0.047766	0	9	13					A	10058810	G	A	10058810	5	1	89	1	0	0	0	0	0	0	1	0	17410	1014	35	3	395	3	WWC3	23	10058810	Splice_Site	SNP	G	TCGA-EJ-7327-01A-11D-2114-08		10058810	145211750	28	4593											
POU3F4	5456	broad.mit.edu	37	chrX	82763400	82763400	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cctagtccatgcggactctgCgggcatgcagcaggggagtc	7	7	15	12	2	1	0	0	0	1	0	3	2	2	2	2	4	4	3	2	4	1	1			TCGA-EJ-7327-01A-11D-2114-08	TCGA-EJ-7327-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	496d38bb-e8f5-491c-943c-01739cc4a0e8	92b13aa2-eb12-433b-a744-c6f7d1d1e690	g.chrX:82763400C>T	ENST00000373200.2	+	1	132	c.68C>T	c.(67-69)gCg>gTg	p.A23V	RP3-326L13.3_ENST00000607789.1_lincRNA|RP3-326L13.2_ENST00000607095.1_RNA	NM_000307.3	NP_000298	P49335	PO3F4_HUMAN	POU class 3 homeobox 4	23					cochlea morphogenesis (GO:0090103)|forebrain neuron differentiation (GO:0021879)|negative regulation of mesenchymal cell apoptotic process (GO:2001054)|sensory perception of sound (GO:0007605)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	AT DNA binding (GO:0003680)|double-stranded DNA binding (GO:0003690)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	37						GCGGACTCTGCGGGCATGCAG	0.557																																						ENST00000373200.2																			0				breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	37						c.(67-69)gCg>gTg		POU class 3 homeobox 4							60	44	49					X																	82763400		2203	4300	6503	SO:0001583	missense	5456				sensory perception of sound	nucleus	sequence-specific DNA binding transcription factor activity	g.chrX:82763400C>T	X82324	CCDS14450.1	Xq21.1	2011-06-20	2007-07-13		ENSG00000196767	ENSG00000196767		"Homeoboxes / POU class"	9217	protein-coding gene	gene with protein product	"brain-4"	300039	"POU domain class 3, transcription factor 4"	DFN3		7911044, 7581392	Standard	NM_000307		Approved	BRN4, OTF9, DFNX2	uc004eeg.2	P49335	OTTHUMG00000021919	ENST00000373200.2:c.68C>T	X.37:g.82763400C>T	ENSP00000362296:p.Ala23Val					RP3-326L13.2_ENST00000607095.1_RNA	p.A23V	NM_000307.3	NP_000298.2	P49335	PO3F4_HUMAN			1	132	+			23					B2RC71|Q5H9G9|Q99410	Missense_Mutation	SNP	ENST00000373200.2	37	c.68C>T	CCDS14450.1	.	.	.	.	.	.	.	.	.	.	C	10.99	1.507926	0.27036	.	.	ENSG00000196767	ENST00000373200	D	0.85339	-1.97	4.46	2.68	0.31781	.	0.780519	0.12106	N	0.499023	T	0.77512	0.4141	L	0.43152	1.355	0.30531	N	0.767442	B	0.30439	0.279	B	0.17979	0.02	T	0.71434	-0.4594	10	0.56958	D	0.05	.	8.8464	0.35172	0.0:0.8059:0.0:0.1941	.	23	P49335	PO3F4_HUMAN	V	23	ENSP00000362296:A23V	ENSP00000362296:A23V	A	+	2	0	POU3F4	82650056	1.000000	0.71417	0.784000	0.31847	0.815000	0.46073	2.100000	0.41777	0.441000	0.26529	-0.196000	0.12772	GCG		0.557	POU3F4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057368.2	NM_000307		3	18	0	0	0	0.009096	0	3	18					T	82763400	C	T	82763400	3	4	89	1	0	0	0	0	1	0	0	0	12277	768	27	1	70	1	POU3F4	23	82763400	Missense_Mutation	SNP	C	TCGA-EJ-7327-01A-11D-2114-08	72704590	82763400	72507160	29	4594											
CASZ1	54897	broad.mit.edu	37	chr1	10719882	10719882	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ctggcccgggggcgctggggGcactgggcacgctggcgagg	3	4	22	12	4	0	0	0	0	0	0	0	1	0	0	1	8	0	4	1	8	0	0			TCGA-EJ-7328-01A-31D-2114-08	TCGA-EJ-7328-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f4dae7e-36da-4014-a9df-9907ad1f7af8	fb1f3dbb-8353-4bfc-b0eb-5da03492262e	g.chr1:10719882G>A	ENST00000377022.3	-	6	1534	c.1217C>T	c.(1216-1218)gCc>gTc	p.A406V	CASZ1_ENST00000344008.5_Missense_Mutation_p.A406V|CASZ1_ENST00000478728.2_5'Flank	NM_001079843.2	NP_001073312.1	Q86V15	CASZ1_HUMAN	castor zinc finger 1	406	Pro-rich.				multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|large_intestine(13)|lung(18)|ovary(2)|prostate(5)|skin(2)|urinary_tract(1)	54	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)		GGCGCTGGGGGCACTGGGCAC	0.677																																						ENST00000377022.3																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|large_intestine(13)|lung(18)|ovary(2)|prostate(5)|skin(2)|urinary_tract(1)	54						c.(1216-1218)gCc>gTc		castor zinc finger 1							32	35	34					1																	10719882		2202	4298	6500	SO:0001583	missense	54897				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding	g.chr1:10719882G>A	AK000328	CCDS120.2, CCDS41246.1	1p36.22	2013-01-07	2007-02-02		ENSG00000130940	ENSG00000130940		"Zinc fingers, C2H2-type"	26002	protein-coding gene	gene with protein product	"zinc finger protein 693", "survival related gene"	609895	"castor homolog 1, zinc finger (Drosophila)"			16631614, 21252912	Standard	NM_001079843		Approved	FLJ20321, ZNF693, castor, cst, SRG	uc001aro.4	Q86V15	OTTHUMG00000002035	ENST00000377022.3:c.1217C>T	1.37:g.10719882G>A	ENSP00000366221:p.Ala406Val					CASZ1_ENST00000344008.5_Missense_Mutation_p.A406V	p.A406V	NM_001079843.1	NP_001073312.1	Q86V15	CASZ1_HUMAN	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)	6	1534	-	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	406			Pro-rich.		Q078S9|Q2EN02|Q5T9S1|Q6ZNM8|Q8WX49|Q8WX50|Q9BT16|Q9NXC6	Missense_Mutation	SNP	ENST00000377022.3	37	c.1217C>T	CCDS41246.1	.	.	.	.	.	.	.	.	.	.	g	0.938	-0.710367	0.03230	.	.	ENSG00000130940	ENST00000377022;ENST00000344008	.	.	.	4.1	3.17	0.36434	.	0.365392	0.27249	N	0.020227	T	0.21145	0.0509	N	0.08118	0	0.09310	N	0.999995	B;B;B;B	0.12013	0.005;0.001;0.001;0.001	B;B;B;B	0.09377	0.004;0.002;0.002;0.004	T	0.14337	-1.0476	9	0.45353	T	0.12	-0.5218	8.2439	0.31675	0.1114:0.0:0.8886:0.0	.	430;406;406;406	B7Z1S3;B3KRV8;Q86V15-2;Q86V15	.;.;.;CASZ1_HUMAN	V	406	.	ENSP00000339445:A406V	A	-	2	0	CASZ1	10642469	0.201000	0.23410	0.053000	0.19242	0.052000	0.14988	2.633000	0.46519	1.079000	0.41038	0.486000	0.48141	GCC		0.677	CASZ1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005673.2	NM_017766		3	47	0	0	0	1	0	3	47					A	10719882	G	A	10719882	3	1	90	1	0	0	0	0	1	0	0	0	2685	1203	42	3	4130	3	CASZ1	1	10719882	Missense_Mutation	SNP	G	TCGA-EJ-7328-01A-31D-2114-08		10719882	238530739	1	4595											
PLK3	1263	broad.mit.edu	37	chr1	45270100	45270100	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccaataagttcggctttgggTatcaactgtccagccgccgt	8	11	10	12	3	1	0	1	0	0	0	3	0	2	0	4	2	2	3	4	2	4	4			TCGA-EJ-7328-01A-31D-2114-08	TCGA-EJ-7328-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f4dae7e-36da-4014-a9df-9907ad1f7af8	fb1f3dbb-8353-4bfc-b0eb-5da03492262e	g.chr1:45270100T>C	ENST00000372201.4	+	12	1671	c.1432T>C	c.(1432-1434)Tat>Cat	p.Y478H	PLK3_ENST00000465443.1_3'UTR	NM_004073.2	NP_004064.2	Q9H4B4	PLK3_HUMAN	polo-like kinase 3	478	POLO box 1. {ECO:0000255|PROSITE- ProRule:PRU00154}.				apoptotic process (GO:0006915)|cellular response to DNA damage stimulus (GO:0006974)|cytoplasmic microtubule organization (GO:0031122)|endomitotic cell cycle (GO:0007113)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|Golgi disassembly (GO:0090166)|mitotic cell cycle checkpoint (GO:0007093)|mitotic G1/S transition checkpoint (GO:0044819)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process involved in cellular response to hypoxia (GO:2000777)|protein kinase B signaling (GO:0043491)|protein phosphorylation (GO:0006468)|regulation of cell division (GO:0051302)|regulation of cytokinesis (GO:0032465)|response to osmotic stress (GO:0006970)|response to radiation (GO:0009314)|response to reactive oxygen species (GO:0000302)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|Golgi stack (GO:0005795)|neuronal cell body (GO:0043025)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|p53 binding (GO:0002039)|protein serine/threonine kinase activity (GO:0004674)			endometrium(4)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Acute lymphoblastic leukemia(166;0.155)					CGGCTTTGGGTATCAACTGTC	0.572																																						ENST00000372201.4																			0				endometrium(4)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(1432-1434)Tat>Cat		polo-like kinase 3							67	75	73					1																	45270100		2203	4300	6503	SO:0001583	missense	1263					membrane	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr1:45270100T>C	AJ293866	CCDS515.1	1p34.1	2013-01-18	2010-06-24	2004-01-28	ENSG00000173846	ENSG00000173846			2154	protein-coding gene	gene with protein product		602913	"cytokine-inducible kinase", "polo-like kinase 3 (Drosophila)"	CNK		8702627	Standard	NM_004073		Approved	FNK, PRK	uc001cmn.3	Q9H4B4	OTTHUMG00000008491	ENST00000372201.4:c.1432T>C	1.37:g.45270100T>C	ENSP00000361275:p.Tyr478His					PLK3_ENST00000465443.1_3'UTR	p.Y478H	NM_004073.2	NP_004064.2	Q9H4B4	PLK3_HUMAN			12	1671	+	Acute lymphoblastic leukemia(166;0.155)		478			POLO box 1.		Q15767|Q5JR99|Q96CV1	Missense_Mutation	SNP	ENST00000372201.4	37	c.1432T>C	CCDS515.1	.	.	.	.	.	.	.	.	.	.	t	21.6	4.167710	0.78339	.	.	ENSG00000173846	ENST00000372201;ENST00000543983	T	0.27256	1.68	5.22	5.22	0.72569	POLO box duplicated domain (2);	.	.	.	.	T	0.61515	0.2353	M	0.93462	3.42	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.72972	-0.4129	9	0.87932	D	0	-9.447	14.6063	0.68481	0.0:0.0:0.0:1.0	.	478	Q9H4B4	PLK3_HUMAN	H	478;453	ENSP00000361275:Y478H	ENSP00000361275:Y478H	Y	+	1	0	PLK3	45042687	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.031000	0.88826	2.105000	0.64084	0.529000	0.55759	TAT		0.572	PLK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023429.1	NM_004073		27	97	0	0	0	1	0	27	97					C	45270100	T	C	45270100	3	2	90	1	0	0	0	0	1	0	0	0	12097	1638	57	4	1478	4	PLK3	1	45270100	Missense_Mutation	SNP	T	TCGA-EJ-7328-01A-31D-2114-08	34550218	45270100	203980521	2	4596											
HECTD3	79654	broad.mit.edu	37	chr1	45472380	45472380	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttacctggttggctgtgcgtAcaaagaagggcaggggcacg	9	8	16	8	2	0	1	0	0	0	1	0	1	0	1	1	5	3	5	1	5	4	3			TCGA-EJ-7328-01A-31D-2114-08	TCGA-EJ-7328-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f4dae7e-36da-4014-a9df-9907ad1f7af8	fb1f3dbb-8353-4bfc-b0eb-5da03492262e	g.chr1:45472380A>C	ENST00000372172.4	-	13	1780	c.1709T>G	c.(1708-1710)gTa>gGa	p.V570G	HECTD3_ENST00000486132.1_5'Flank|HECTD3_ENST00000372168.3_Missense_Mutation_p.V180G	NM_024602.5	NP_078878.3	Q5T447	HECD3_HUMAN	HECT domain containing E3 ubiquitin protein ligase 3	570	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|stomach(1)	28	Acute lymphoblastic leukemia(166;0.155)					GGCTGTGCGTACAAAGAAGGG	0.572																																						ENST00000372172.4																			0				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|stomach(1)	28						c.(1708-1710)gTa>gGa		HECT domain containing E3 ubiquitin protein ligase 3							66	70	69					1																	45472380		1969	4133	6102	SO:0001583	missense	79654				proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm	ubiquitin-protein ligase activity	g.chr1:45472380A>C	BC019105	CCDS41318.1	1p34.1	2012-02-23	2012-02-23		ENSG00000126107	ENSG00000126107			26117	protein-coding gene	gene with protein product			"HECT domain containing 3"			12477932	Standard	NM_024602		Approved	FLJ21156	uc009vxk.3	Q5T447	OTTHUMG00000008587	ENST00000372172.4:c.1709T>G	1.37:g.45472380A>C	ENSP00000361245:p.Val570Gly					HECTD3_ENST00000372168.3_Missense_Mutation_p.V180G	p.V570G	NM_024602.5	NP_078878.3	Q5T447	HECD3_HUMAN			13	1780	-	Acute lymphoblastic leukemia(166;0.155)		570			HECT.		B3KPV7|B3KRH4|Q5T448|Q9H783	Missense_Mutation	SNP	ENST00000372172.4	37	c.1709T>G	CCDS41318.1	.	.	.	.	.	.	.	.	.	.	.	15.10	2.734106	0.48939	.	.	ENSG00000126107	ENST00000372172;ENST00000372168	T;T	0.61510	0.1;0.39	5.3	5.3	0.74995	HECT (3);	0.420057	0.26975	N	0.021556	T	0.58991	0.2161	M	0.71581	2.175	0.58432	D	0.999995	B;P	0.38078	0.44;0.617	B;B	0.36504	0.196;0.226	T	0.66228	-0.5976	10	0.87932	D	0	.	15.4114	0.74923	1.0:0.0:0.0:0.0	.	570;180	Q5T447;Q5T447-2	HECD3_HUMAN;.	G	570;180	ENSP00000361245:V570G;ENSP00000361241:V180G	ENSP00000361241:V180G	V	-	2	0	HECTD3	45244967	0.993000	0.37304	1.000000	0.80357	0.993000	0.82548	2.811000	0.47986	2.220000	0.72140	0.533000	0.62120	GTA		0.572	HECTD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023734.1	NM_024602		12	84	0	0	0	1	0	12	84					C	45472380	A	C	45472380	3	2	90	1	0	0	0	0	1	0	0	0	7041	391	14	5	912	5	HECTD3	1	45472380	Missense_Mutation	SNP	A	TCGA-EJ-7328-01A-31D-2114-08	202280	45472380	203778241	3	4597											
CCDC17	149483	broad.mit.edu	37	chr1	46086625	46086625	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaggctggggtccagaggaaGggcccgaagtgggaggcgcc	9	3	20	9	2	0	1	0	0	0	1	1	4	1	3	3	7	0	1	3	7	3	0			TCGA-EJ-7328-01A-31D-2114-08	TCGA-EJ-7328-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f4dae7e-36da-4014-a9df-9907ad1f7af8	fb1f3dbb-8353-4bfc-b0eb-5da03492262e	g.chr1:46086625G>A	ENST00000528266.1	-	11	1696	c.1549C>T	c.(1549-1551)Ctt>Ttt	p.L517F	CCDC17_ENST00000445048.2_Intron|CCDC17_ENST00000421127.2_Missense_Mutation_p.L508F|CCDC17_ENST00000343901.2_Missense_Mutation_p.L485F|CCDC17_ENST00000464739.1_5'Flank			Q96LX7	CCD17_HUMAN	coiled-coil domain containing 17	517										kidney(1)|large_intestine(1)|lung(1)|ovary(2)	5	Acute lymphoblastic leukemia(166;0.155)					TCCAGAGGAAGGGCCCGAAGT	0.577																																						ENST00000421127.2																			0				kidney(1)|large_intestine(1)|lung(1)|ovary(2)	5						c.(1522-1524)Ctt>Ttt		coiled-coil domain containing 17							41	39	40					1																	46086625		2203	4300	6503	SO:0001583	missense	149483							g.chr1:46086625G>A		CCDS44131.1, CCDS44131.2, CCDS53314.1	1p34.1	2014-02-12			ENSG00000159588	ENSG00000159588			26574	protein-coding gene	gene with protein product							Standard	NM_001190182		Approved	FLJ33084	uc010olt.2	Q96LX7	OTTHUMG00000007822	ENST00000528266.1:c.1549C>T	1.37:g.46086625G>A	ENSP00000432172:p.Leu517Phe					CCDC17_ENST00000343901.2_Missense_Mutation_p.L485F|CCDC17_ENST00000528266.1_Missense_Mutation_p.L517F|CCDC17_ENST00000445048.2_Intron	p.L508F	NM_001114938.2|NM_001190182.1	NP_001108410.2|NP_001177111.1	Q96LX7	CCD17_HUMAN			11	1665	-	Acute lymphoblastic leukemia(166;0.155)		517					A1A4Y7|B4DNX7|B4E1Q5|C9J8L2|Q0P683|Q5T629	Missense_Mutation	SNP	ENST00000528266.1	37	c.1522C>T	CCDS44131.2	.	.	.	.	.	.	.	.	.	.	G	13.15	2.152538	0.38021	.	.	ENSG00000159588	ENST00000421127;ENST00000343901;ENST00000528266	T;T;T	0.56275	0.47;0.47;0.47	5.81	3.85	0.44370	.	0.623048	0.15559	N	0.256047	T	0.46698	0.1406	L	0.56769	1.78	0.26366	N	0.976977	B;B;B	0.23249	0.082;0.082;0.082	B;B;B	0.25140	0.058;0.058;0.058	T	0.36768	-0.9734	10	0.28530	T	0.3	-1.5311	8.1926	0.31376	0.268:0.0:0.732:0.0	.	517;508;485	Q96LX7;Q96LX7-5;F2Z395	CCD17_HUMAN;.;.	F	508;485;517	ENSP00000389415:L508F;ENSP00000341451:L485F;ENSP00000432172:L517F	ENSP00000341451:L485F	L	-	1	0	CCDC17	45859212	0.987000	0.35691	0.920000	0.36463	0.547000	0.35210	2.542000	0.45744	0.696000	0.31696	0.655000	0.94253	CTT		0.577	CCDC17-008	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386833.1	NM_152500		5	22	0	0	0	1	0	5	22					A	46086625	G	A	46086625	3	1	90	1	0	0	0	0	1	0	0	0	2793	1000	35	3	331	3	CCDC17	1	46086625	Missense_Mutation	SNP	G	TCGA-EJ-7328-01A-31D-2114-08	614245	46086625	203163996	4	4598											
LPPR4	9890	broad.mit.edu	37	chr1	99767329	99767329	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctaagcttctgaaacctcTcttggtcttcacatttatca	9	16	4	12	0	6	1	2	1	4	0	7	1	6	1	1	1	2	1	1	1	3	6			TCGA-EJ-7328-01A-31D-2114-08	TCGA-EJ-7328-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f4dae7e-36da-4014-a9df-9907ad1f7af8	fb1f3dbb-8353-4bfc-b0eb-5da03492262e	g.chr1:99767329T>C	ENST00000370185.3	+	6	1339	c.842T>C	c.(841-843)cTc>cCc	p.L281P	LPPR4_ENST00000457765.1_Intron|LPPR4_ENST00000370184.1_Missense_Mutation_p.L123P	NM_014839.4	NP_055654.2	Q7Z2D5	LPPR4_HUMAN		281					axonogenesis (GO:0007409)|inner ear development (GO:0048839)|phospholipid dephosphorylation (GO:0046839)	integral component of plasma membrane (GO:0005887)	lipid phosphatase activity (GO:0042577)|phosphatidate phosphatase activity (GO:0008195)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(39)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	72		all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202)		Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22)		CTGAAACCTCTCTTGGTCTTC	0.363																																						ENST00000370185.3																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(39)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	72						c.(841-843)cTc>cCc									134	130	132					1																	99767329		2203	4300	6503	SO:0001583	missense	0						phosphatidate phosphatase activity	g.chr1:99767329T>C																												ENST00000370185.3:c.842T>C	1.37:g.99767329T>C	ENSP00000359204:p.Leu281Pro					LPPR4_ENST00000370184.1_Missense_Mutation_p.L123P|LPPR4_ENST00000457765.1_Intron	p.L281P	NM_014839.4	NP_055654.2	Q7Z2D5	LPPR4_HUMAN		Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22)	6	1339	+		all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202)	281					E7EPS1|O75043|Q5T9R9|Q86XQ5|Q8N3F1|Q96MP0	Missense_Mutation	SNP	ENST00000370185.3	37	c.842T>C	CCDS757.1	.	.	.	.	.	.	.	.	.	.	T	22.4	4.287470	0.80803	.	.	ENSG00000117600	ENST00000370185;ENST00000263178;ENST00000370184	T;T	0.77489	-1.1;-1.1	4.92	4.92	0.64577	Phosphatidic acid phosphatase/chloroperoxidase, N-terminal (1);	0.286229	0.34802	N	0.003668	T	0.81442	0.4823	L	0.55017	1.72	0.80722	D	1	D	0.64830	0.994	D	0.70227	0.968	D	0.84299	0.0504	10	0.72032	D	0.01	-22.0505	14.5573	0.68109	0.0:0.0:0.0:1.0	.	281	Q7Z2D5	LPPR4_HUMAN	P	281;281;123	ENSP00000359204:L281P;ENSP00000359203:L123P	ENSP00000263178:L281P	L	+	2	0	RP4-788L13.1	99539917	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.698000	0.84413	1.836000	0.53414	0.402000	0.26972	CTC		0.363	LPPR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029670.2			7	72	0	0	0	1	0	7	72					C	99767329	T	C	99767329	3	2	90	1	0	0	0	0	1	0	0	0	8927	1551	54	4	864	4	LPPR4	1	99767329	Missense_Mutation	SNP	T	TCGA-EJ-7328-01A-31D-2114-08	53680704	99767329	149483292	5	4599											
PDE4DIP	9659	broad.mit.edu	37	chr1	144916719	144916719	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agataactgttccacttccaGgcctttggccctcaggagac	9	10	9	13	0	1	2	1	0	0	2	3	3	3	2	4	3	1	1	4	3	1	4			TCGA-EJ-7328-01A-31D-2114-08	TCGA-EJ-7328-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f4dae7e-36da-4014-a9df-9907ad1f7af8	fb1f3dbb-8353-4bfc-b0eb-5da03492262e	g.chr1:144916719G>A	ENST00000369354.3	-	13	1825	c.1636C>T	c.(1636-1638)Ctg>Ttg	p.L546L	PDE4DIP_ENST00000529945.1_Silent_p.L709L|PDE4DIP_ENST00000313382.9_Silent_p.L612L|PDE4DIP_ENST00000313431.9_Silent_p.L709L|PDE4DIP_ENST00000369356.4_Silent_p.L546L|PDE4DIP_ENST00000369349.3_Silent_p.L546L|PDE4DIP_ENST00000369351.3_Silent_p.L546L|PDE4DIP_ENST00000530740.1_Silent_p.L683L|PDE4DIP_ENST00000479408.2_Silent_p.L333L|PDE4DIP_ENST00000369359.4_Silent_p.L683L			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	546					cellular protein complex assembly (GO:0043623)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|myofibril (GO:0030016)|nucleus (GO:0005634)	enzyme binding (GO:0019899)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		TCCACTTCCAGGCCTTTGGCC	0.423			T	PDGFRB	MPD																																	ENST00000529945.1				Dom	yes		1	1q12	9659	T	phosphodiesterase 4D interacting protein (myomegalin)			L	PDGFRB		MPD		0				NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176						c.(2125-2127)Ctg>Ttg		phosphodiesterase 4D interacting protein							234	258	250					1																	144916719		2203	4296	6499	SO:0001819	synonymous_variant	9659				cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding	g.chr1:144916719G>A	AB007923, AB007946	CCDS72887.1, CCDS72888.1, CCDS72889.1, CCDS72890.1, CCDS72891.1, CCDS72892.1, CCDS72893.1, CCDS72894.1	1q21.1	2008-07-31	2008-07-31		ENSG00000178104	ENSG00000178104			15580	protein-coding gene	gene with protein product	"myomegalin"	608117	"cardiomyopathy associated 2"	CMYA2		9455484, 11134006	Standard	NM_022359		Approved	KIAA0477, KIAA0454, MMGL	uc021ouh.1	Q5VU43	OTTHUMG00000013846	ENST00000369354.3:c.1636C>T	1.37:g.144916719G>A						PDE4DIP_ENST00000530740.1_Silent_p.L683L|PDE4DIP_ENST00000479408.2_Silent_p.L333L|PDE4DIP_ENST00000369349.3_Silent_p.L546L|PDE4DIP_ENST00000369351.3_Silent_p.L546L|PDE4DIP_ENST00000369354.3_Silent_p.L546L|PDE4DIP_ENST00000369356.4_Silent_p.L546L|PDE4DIP_ENST00000369359.4_Silent_p.L683L|PDE4DIP_ENST00000313431.9_Silent_p.L709L|PDE4DIP_ENST00000313382.9_Silent_p.L612L	p.L709L			Q5VU43	MYOME_HUMAN		Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)	9	2564	-			546					A2RU15|O75042|O75065|Q2YDC1|Q5VU42|Q5VU44|Q5VU45|Q5VU46|Q5VU47|Q5VU48|Q5VU49|Q68DU2|Q6AZ93|Q6PK88|Q86T40|Q86TB2|Q8N3W0|Q8TAY9|Q9HCP2|Q9HCP3|Q9HCP4|Q9HCP5	Silent	SNP	ENST00000369354.3	37	c.2125C>T	CCDS30824.1																																																																																				0.423	PDE4DIP-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000038858.2	NM_022359		5	350	0	0	0	1	0	5	350					A	144916719	G	A	144916719	2	1	90	1	0	0	0	0	0	0	0	1	11643	991	35	3		3	PDE4DIP	1	144916719	Silent	SNP	G	TCGA-EJ-7328-01A-31D-2114-08	45149390	144916719	104333902	6	4600											
GPR17	2840	broad.mit.edu	37	chr2	128409282	128409282	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agggcccgccccccagcttcGaagggaaaaccaacgagagc	12	2	12	15	3	0	1	0	0	0	1	1	4	0	2	5	2	4	1	5	2	4	1	rs78078469		TCGA-EJ-7328-01A-31D-2114-08	TCGA-EJ-7328-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f4dae7e-36da-4014-a9df-9907ad1f7af8	fb1f3dbb-8353-4bfc-b0eb-5da03492262e	g.chr2:128409282G>A	ENST00000272644.3	+	3	1131	c.1057G>A	c.(1057-1059)Gaa>Aaa	p.E353K	GPR17_ENST00000486700.1_3'UTR|LIMS2_ENST00000409808.2_Intron|LIMS2_ENST00000409254.1_5'Flank|LIMS2_ENST00000410011.1_Intron|GPR17_ENST00000544369.1_Missense_Mutation_p.E353K|LIMS2_ENST00000324938.5_Intron|LIMS2_ENST00000545738.2_Intron|LIMS2_ENST00000409455.1_Intron|LIMS2_ENST00000355119.4_Intron|GPR17_ENST00000393018.3_Missense_Mutation_p.E353K	NM_001161416.1|NM_001161417.1|NM_005291.2	NP_001154888.1|NP_001154889.1|NP_005282.1	Q13304	GPR17_HUMAN	G protein-coupled receptor 17	353					chemokine-mediated signaling pathway (GO:0070098)|G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	chemokine receptor activity (GO:0004950)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|prostate(2)|urinary_tract(1)	19	Colorectal(110;0.1)	Ovarian(717;0.15)		BRCA - Breast invasive adenocarcinoma(221;0.0677)		CCCCAGCTTCGAAGGGAAAAC	0.607																																						ENST00000544369.1																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|prostate(2)|urinary_tract(1)	19						c.(1057-1059)Gaa>Aaa		G protein-coupled receptor 17		G	,,,LYS/GLU,LYS/GLU,LYS/GLU,LYS/GLU,	1,4405		0,1,2202	53	65	61		,,,1057,973,973,1057,	5.5	0.4	2	dbSNP_131	61	0,8598		0,0,4299	no	intron,intron,intron,missense,missense,missense,missense,intron	GPR17,LIMS2	NM_001136037.2,NM_001161403.1,NM_001161404.1,NM_001161415.1,NM_001161416.1,NM_001161417.1,NM_005291.2,NM_017980.4	,,,56,56,56,56,	0,1,6501	AA,AG,GG		0.0,0.0227,0.0077	,,,benign,benign,benign,benign,	,,,353/368,325/340,325/340,353/368,	128409282	1,13003	2203	4299	6502	SO:0001583	missense	0					integral to plasma membrane	chemokine receptor activity|purinergic nucleotide receptor activity, G-protein coupled	g.chr2:128409282G>A		CCDS2148.1	2q21	2014-01-30			ENSG00000144230	ENSG00000144230		"GPCR / Class A : Orphans"	4471	protein-coding gene	gene with protein product		603071				8558062	Standard	NM_001161415		Approved		uc002tpc.3	Q13304	OTTHUMG00000131533	ENST00000272644.3:c.1057G>A	2.37:g.128409282G>A	ENSP00000272644:p.Glu353Lys					LIMS2_ENST00000545738.2_Intron|GPR17_ENST00000272644.3_Missense_Mutation_p.E353K|LIMS2_ENST00000410011.1_Intron|GPR17_ENST00000393018.3_Missense_Mutation_p.E353K|GPR17_ENST00000486700.1_3'UTR|LIMS2_ENST00000355119.4_Intron|LIMS2_ENST00000324938.5_Intron|LIMS2_ENST00000409808.2_Intron|LIMS2_ENST00000409455.1_Intron	p.E353K	NM_001161415.1	NP_001154887.1	Q13304	GPR17_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0677)	4	1668	+	Colorectal(110;0.1)	Ovarian(717;0.15)	353					A8K9L0|B2R9X0|Q8N5S7|Q9UDZ6|Q9UE21	Missense_Mutation	SNP	ENST00000272644.3	37	c.1057G>A	CCDS2148.1	.	.	.	.	.	.	.	.	.	.	.	11.31	1.599581	0.28534	2.27E-4	0.0	ENSG00000144230	ENST00000544369;ENST00000272644;ENST00000393018	T;T;T	0.36699	1.24;1.24;1.24	5.48	5.48	0.80851	.	0.291015	0.41294	D	0.000911	T	0.22205	0.0535	N	0.08118	0	0.49582	D	0.999809	B	0.20052	0.041	B	0.11329	0.006	T	0.08229	-1.0732	9	.	.	.	.	19.3394	0.94335	0.0:0.0:1.0:0.0	.	353	Q13304	GPR17_HUMAN	K	353	ENSP00000442982:E353K;ENSP00000272644:E353K;ENSP00000376741:E353K	.	E	+	1	0	GPR17	128125752	1.000000	0.71417	0.445000	0.26908	0.172000	0.22775	3.801000	0.55545	2.580000	0.87095	0.555000	0.69702	GAA		0.607	GPR17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254390.1			22	109	0	0	0	1	0	22	109					A	128409282	G	A	128409282	3	1	90	1	0	0	0	0	1	0	0	0	6667	1059	37	2	1063	2	GPR17	2	128409282	Missense_Mutation	SNP	G	TCGA-EJ-7328-01A-31D-2114-08		128409282	114790091	7	4601											
PKP4	8502	broad.mit.edu	37	chr2	159533253	159533253	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctttgcctctcccttcagtcGgcagcacctcttcctcacca	5	12	5	19	1	4	0	2	0	2	0	7	0	5	0	5	1	2	2	5	1	0	3			TCGA-EJ-7328-01A-31D-2114-08	TCGA-EJ-7328-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f4dae7e-36da-4014-a9df-9907ad1f7af8	fb1f3dbb-8353-4bfc-b0eb-5da03492262e	g.chr2:159533253G>A	ENST00000389759.3	+	20	3242	c.3130G>A	c.(3130-3132)Ggc>Agc	p.G1044S	PKP4_ENST00000389757.3_Intron|AC005042.4_ENST00000442666.1_RNA|AC005042.4_ENST00000342892.4_RNA	NM_003628.3	NP_003619.2	Q99569	PKP4_HUMAN	plakophilin 4	1044					cell-cell junction assembly (GO:0007043)|cell-cell signaling (GO:0007267)|positive regulation of cytokinesis (GO:0032467)|positive regulation of gene expression (GO:0010628)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell adhesion (GO:0030155)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoskeleton (GO:0005856)|desmosome (GO:0030057)|midbody (GO:0030496)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|spindle midzone (GO:0051233)|spindle pole (GO:0000922)				breast(2)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(21)|ovary(6)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	61						CCCTTCAGTCGGCAGCACCTC	0.488										HNSCC(62;0.18)																												ENST00000389759.3																			0				breast(2)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(21)|ovary(6)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	61						c.(3130-3132)Ggc>Agc		plakophilin 4							136	133	134					2																	159533253		2203	4300	6503	SO:0001583	missense	8502				cell adhesion	desmosome	protein binding	g.chr2:159533253G>A	X81889	CCDS33305.1, CCDS33306.1	2q24.1	2013-02-14			ENSG00000144283	ENSG00000144283		"Armadillo repeat containing"	9026	protein-coding gene	gene with protein product		604276				9342840, 8937994	Standard	NM_003628		Approved	p0071	uc002tzv.3	Q99569	OTTHUMG00000153969	ENST00000389759.3:c.3130G>A	2.37:g.159533253G>A	ENSP00000374409:p.Gly1044Ser	HNSCC(62;0.18)				PKP4_ENST00000389757.3_Intron|AC005042.4_ENST00000342892.4_RNA	p.G1044S	NM_003628.3	NP_003619.2	Q99569	PKP4_HUMAN			20	3242	+			1044					Q86W91	Missense_Mutation	SNP	ENST00000389759.3	37	c.3130G>A	CCDS33305.1	.	.	.	.	.	.	.	.	.	.	G	12.70	2.016767	0.35606	.	.	ENSG00000144283	ENST00000389759	T	0.72394	-0.65	6.17	6.17	0.99709	.	0.171219	0.52532	D	0.000077	T	0.54287	0.1849	L	0.27053	0.805	0.80722	D	1	P;P	0.34743	0.466;0.466	B;B	0.24269	0.039;0.052	T	0.57814	-0.7746	10	0.02654	T	1	-13.0355	20.8794	0.99867	0.0:0.0:1.0:0.0	.	999;1044	Q4W5T8;Q99569	.;PKP4_HUMAN	S	1044	ENSP00000374409:G1044S	ENSP00000374409:G1044S	G	+	1	0	PKP4	159241499	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	9.476000	0.97823	2.941000	0.99782	0.655000	0.94253	GGC		0.488	PKP4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333250.1			7	154	0	0	0	1	0	7	154					A	159533253	G	A	159533253	3	1	90	1	0	0	0	0	1	0	0	0	11987	1116	39	2	3204	2	PKP4	2	159533253	Missense_Mutation	SNP	G	TCGA-EJ-7328-01A-31D-2114-08	31123971	159533253	83666120	8	4602											
LRP2	4036	broad.mit.edu	37	chr2	170053462	170053462	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggcatcaaaacaatctgttTcttgatcacaataccaatgt	15	12	5	9	0	4	1	2	1	2	0	4	1	4	1	1	1	2	2	1	1	6	3			TCGA-EJ-7328-01A-31D-2114-08	TCGA-EJ-7328-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f4dae7e-36da-4014-a9df-9907ad1f7af8	fb1f3dbb-8353-4bfc-b0eb-5da03492262e	g.chr2:170053462T>A	ENST00000263816.3	-	46	8942	c.8657A>T	c.(8656-8658)gAa>gTa	p.E2886V		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	2886	LDL-receptor class A 20. {ECO:0000255|PROSITE-ProRule:PRU00124}.				cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"	ACAATCTGTTTCTTGATCACA	0.458																																						ENST00000263816.3																			0				biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315						c.(8656-8658)gAa>gTa		low density lipoprotein receptor-related protein 2	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)						123	103	110					2																	170053462		2203	4300	6503	SO:0001583	missense	4036				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding	g.chr2:170053462T>A		CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"Low density lipoprotein receptors"	6694	protein-coding gene	gene with protein product	"megalin"	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.8657A>T	2.37:g.170053462T>A	ENSP00000263816:p.Glu2886Val						p.E2886V	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN		STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	46	8942	-			2886			LDL-receptor class A 20.		O00711|Q16215	Missense_Mutation	SNP	ENST00000263816.3	37	c.8657A>T	CCDS2232.1	.	.	.	.	.	.	.	.	.	.	T	13.90	2.374385	0.42105	.	.	ENSG00000081479	ENST00000263816	D	0.95853	-3.83	6.17	2.43	0.29744	Low-density lipoprotein (LDL) receptor class A, conserved site (1);	0.325278	0.37219	N	0.002186	D	0.91616	0.7351	L	0.42632	1.34	0.29282	N	0.869933	P	0.45044	0.849	B	0.43990	0.438	D	0.87262	0.2280	10	0.72032	D	0.01	.	3.9578	0.09398	0.0:0.2831:0.4017:0.3152	.	2886	P98164	LRP2_HUMAN	V	2886	ENSP00000263816:E2886V	ENSP00000263816:E2886V	E	-	2	0	LRP2	169761708	0.004000	0.15560	0.011000	0.14972	0.004000	0.04260	0.352000	0.20113	0.526000	0.28541	0.533000	0.62120	GAA		0.458	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2	NM_004525		8	81	0	0	0	1	0	8	81					A	170053462	T	A	170053462	3	1	90	1	0	0	0	0	1	0	0	0	8956	1783	62	5	5446	5	LRP2	2	170053462	Missense_Mutation	SNP	T	TCGA-EJ-7328-01A-31D-2114-08	10520209	170053462	73145911	9	4603											
ATP2B2	491	broad.mit.edu	37	chr3	10430060	10430060	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacagcagtcaccaacatccGtcctgagccctccatcacgt	10	7	6	18	2	2	1	2	1	0	0	5	1	5	1	5	0	3	1	5	0	1	0			TCGA-EJ-7328-01A-31D-2114-08	TCGA-EJ-7328-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f4dae7e-36da-4014-a9df-9907ad1f7af8	fb1f3dbb-8353-4bfc-b0eb-5da03492262e	g.chr3:10430060G>A	ENST00000352432.4	-	5	877	c.808C>T	c.(808-810)Cgg>Tgg	p.R270W	ATP2B2_ENST00000383800.4_Missense_Mutation_p.R270W|ATP2B2_ENST00000397077.1_Missense_Mutation_p.R270W|ATP2B2_ENST00000360273.2_Missense_Mutation_p.R270W|ATP2B2_ENST00000343816.4_Missense_Mutation_p.R270W			Q01814	AT2B2_HUMAN	ATPase, Ca++ transporting, plasma membrane 2	270					auditory receptor cell stereocilium organization (GO:0060088)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cerebellar granule cell differentiation (GO:0021707)|cerebellar Purkinje cell differentiation (GO:0021702)|cGMP metabolic process (GO:0046068)|cochlea development (GO:0090102)|cytosolic calcium ion homeostasis (GO:0051480)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|ion transmembrane transport (GO:0034220)|lactation (GO:0007595)|locomotion (GO:0040011)|locomotory behavior (GO:0007626)|neuromuscular process controlling balance (GO:0050885)|neuron differentiation (GO:0030182)|organelle organization (GO:0006996)|otolith mineralization (GO:0045299)|positive regulation of calcium ion transport (GO:0051928)|regulation of cell size (GO:0008361)|regulation of synaptic plasticity (GO:0048167)|sensory perception of sound (GO:0007605)|serotonin metabolic process (GO:0042428)|synapse organization (GO:0050808)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cilium (GO:0005929)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calcium-dependent ATPase activity (GO:0030899)|calcium-transporting ATPase activity (GO:0005388)|calmodulin binding (GO:0005516)|metal ion binding (GO:0046872)|PDZ domain binding (GO:0030165)|protein C-terminus binding (GO:0008022)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						ACCAACATCCGTCCTGAGCCC	0.517																																					Ovarian(125;1619 1709 15675 19819 38835)	ENST00000397077.1																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						c.(808-810)Cgg>Tgg		ATPase, Ca++ transporting, plasma membrane 2							205	180	188					3																	10430060		2203	4300	6503	SO:0001583	missense	491				ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation	cytosol|integral to membrane|plasma membrane	ATP binding|calcium ion binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding	g.chr3:10430060G>A	X63575	CCDS2601.1, CCDS33701.1	3p25.3	2010-04-20	2001-12-04		ENSG00000157087	ENSG00000157087	3.6.3.8	"ATPases / P-type"	815	protein-coding gene	gene with protein product	"plasma membrane Ca2+ pump 2", "plasma membrane calcium-transporting ATPase 2"	108733				1313367	Standard	NM_001001331		Approved	PMCA2	uc003bvt.3	Q01814	OTTHUMG00000128679	ENST00000352432.4:c.808C>T	3.37:g.10430060G>A	ENSP00000324172:p.Arg270Trp					ATP2B2_ENST00000383800.4_Missense_Mutation_p.R270W|ATP2B2_ENST00000360273.2_Missense_Mutation_p.R270W|ATP2B2_ENST00000352432.4_Missense_Mutation_p.R270W|ATP2B2_ENST00000343816.4_Missense_Mutation_p.R270W	p.R270W			Q01814	AT2B2_HUMAN			8	1383	-			270					O00766|Q12994|Q16818	Missense_Mutation	SNP	ENST00000352432.4	37	c.808C>T	CCDS33701.1	.	.	.	.	.	.	.	.	.	.	G	20.0	3.929893	0.73327	.	.	ENSG00000157087	ENST00000352432;ENST00000383800;ENST00000397077;ENST00000360273;ENST00000343816;ENST00000535386;ENST00000452124;ENST00000342354	D;D;D;D;D;D	0.91011	-2.77;-2.77;-2.77;-2.77;-2.77;-2.77	5.65	-0.786	0.10946	ATPase, P-type, ATPase-associated domain (1);ATPase,  P-type, cytoplasmic transduction domain A (1);	0.114450	0.64402	D	0.000020	D	0.95478	0.8531	M	0.88704	2.975	0.46849	D	0.999221	D;D;D;D	0.89917	1.0;1.0;0.999;1.0	D;D;D;D	0.81914	0.993;0.995;0.952;0.983	D	0.95672	0.8724	10	0.87932	D	0	-29.6001	17.7052	0.88306	0.0:0.0:0.2959:0.7041	.	270;236;282;270	Q01814-7;F5H7F7;Q4LE63;Q01814	.;.;.;AT2B2_HUMAN	W	270;270;270;270;270;236;157;270	ENSP00000324172:R270W;ENSP00000373311:R270W;ENSP00000380267:R270W;ENSP00000353414:R270W;ENSP00000344677:R270W;ENSP00000414854:R157W	ENSP00000342954:R270W	R	-	1	2	ATP2B2	10405060	0.336000	0.24757	0.997000	0.53966	0.990000	0.78478	0.511000	0.22739	-0.045000	0.13468	-0.152000	0.13540	CGG		0.517	ATP2B2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000250576.2	NM_001683		5	177	0	0	0	1	0	5	177					A	10430060	G	A	10430060	3	1	90	1	0	0	0	0	1	0	0	0	1140	1144	40	1	2995	1	ATP2B2	3	10430060	Missense_Mutation	SNP	G	TCGA-EJ-7328-01A-31D-2114-08		10430060	187592370	10	4604											
C3orf14	57415	broad.mit.edu	37	chr3	62317034	62317034	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agaaaagtcactacagaccaGgattcacccacttccacggc	14	6	7	14	1	2	2	2	0	0	2	3	3	3	3	3	2	1	0	3	2	3	3			TCGA-EJ-7328-01A-31D-2114-08	TCGA-EJ-7328-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f4dae7e-36da-4014-a9df-9907ad1f7af8	fb1f3dbb-8353-4bfc-b0eb-5da03492262e	g.chr3:62317034G>A	ENST00000494481.1	+	5	526	c.212G>A	c.(211-213)aGg>aAg	p.R71K	C3orf14_ENST00000232519.5_Missense_Mutation_p.R71K|C3orf14_ENST00000542214.1_Missense_Mutation_p.R71K|PTPRG-AS1_ENST00000490916.1_RNA|PTPRG-AS1_ENST00000495542.1_RNA|C3orf14_ENST00000462069.1_Missense_Mutation_p.R71K			Q9HBI5	CC014_HUMAN	chromosome 3 open reading frame 14	71										central_nervous_system(1)|large_intestine(1)|lung(1)	3				BRCA - Breast invasive adenocarcinoma(55;0.00023)|KIRC - Kidney renal clear cell carcinoma(15;0.00877)|Kidney(15;0.0101)		CTACAGACCAGGATTCACCCA	0.408																																						ENST00000494481.1																			0				central_nervous_system(1)|large_intestine(1)|lung(1)	3						c.(211-213)aGg>aAg		chromosome 3 open reading frame 14							122	119	120					3																	62317034		2203	4300	6503	SO:0001583	missense	57415							g.chr3:62317034G>A	AF236158	CCDS2896.1	3p14.2	2011-11-29			ENSG00000114405	ENSG00000114405			25024	protein-coding gene	gene with protein product						12477932	Standard	XM_005265338		Approved	HT021	uc003dlg.3	Q9HBI5	OTTHUMG00000158704	ENST00000494481.1:c.212G>A	3.37:g.62317034G>A	ENSP00000418086:p.Arg71Lys					PTPRG-AS1_ENST00000495542.1_RNA|C3orf14_ENST00000462069.1_Missense_Mutation_p.R71K|C3orf14_ENST00000542214.1_Missense_Mutation_p.R71K|C3orf14_ENST00000232519.5_Missense_Mutation_p.R71K|PTPRG-AS1_ENST00000490916.1_RNA	p.R71K			Q9HBI5	CC014_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.00023)|KIRC - Kidney renal clear cell carcinoma(15;0.00877)|Kidney(15;0.0101)	5	526	+			71					B2R9U0	Missense_Mutation	SNP	ENST00000494481.1	37	c.212G>A	CCDS2896.1	.	.	.	.	.	.	.	.	.	.	G	12.87	2.068225	0.36470	.	.	ENSG00000114405	ENST00000462069;ENST00000232519;ENST00000494481;ENST00000542214	.	.	.	6.12	0.705	0.18127	.	0.320076	0.30969	N	0.008513	T	0.25269	0.0614	N	0.21142	0.635	0.09310	N	1	B	0.10296	0.003	B	0.11329	0.006	T	0.18335	-1.0340	9	0.23891	T	0.37	-14.8523	10.5518	0.45092	0.3728:0.0:0.6272:0.0	.	71	Q9HBI5	CC014_HUMAN	K	71	.	ENSP00000232519:R71K	R	+	2	0	C3orf14	62292074	0.028000	0.19301	0.356000	0.25785	0.885000	0.51271	0.448000	0.21726	0.176000	0.19873	0.644000	0.83932	AGG		0.408	C3orf14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351807.1	NM_020685		19	87	0	0	0	1	0	19	87					A	62317034	G	A	62317034	3	1	90	1	0	0	0	0	1	0	0	0	2208	1000	35	3	222	3	C3orf14	3	62317034	Missense_Mutation	SNP	G	TCGA-EJ-7328-01A-31D-2114-08	51886974	62317034	135705396	11	4605											
PLXND1	23129	broad.mit.edu	37	chr3	129324627	129324628	+	Frame_Shift_Ins	INS	-	-	T																															cccggcggcgggtcggacggINSgtgcaggaaggcgctcacga																										TCGA-EJ-7328-01A-31D-2114-08	TCGA-EJ-7328-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f4dae7e-36da-4014-a9df-9907ad1f7af8	fb1f3dbb-8353-4bfc-b0eb-5da03492262e	g.chr3:129324627_129324628insT	ENST00000324093.4	-	1	1033_1034	c.855_856insA	c.(853-858)cacccgfs	p.P286fs	PLXND1_ENST00000393239.1_Frame_Shift_Ins_p.P286fs	NM_015103.2	NP_055918	Q9Y4D7	PLXD1_HUMAN	plexin D1	286	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|endothelial cell migration (GO:0043542)|outflow tract morphogenesis (GO:0003151)|patterning of blood vessels (GO:0001569)|positive regulation of protein binding (GO:0032092)|regulation of angiogenesis (GO:0045765)|regulation of cell migration (GO:0030334)|semaphorin-plexin signaling pathway (GO:0071526)|synapse assembly (GO:0007416)	integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)	protein domain specific binding (GO:0019904)|semaphorin receptor activity (GO:0017154)		PLXND1/TMCC1(4)	NS(1)|breast(1)|endometrium(4)|kidney(5)|large_intestine(17)|lung(28)|prostate(10)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	72						GGGTCGGACGGGTGCAGGAAGG	0.673																																					Ovarian(97;366 1484 3738 22084 39045)	ENST00000393239.1																		PLXND1/TMCC1(4)	0				NS(1)|breast(1)|endometrium(4)|kidney(5)|large_intestine(17)|lung(28)|prostate(10)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	72						c.(853-858)cacgtcfs		plexin D1																																				SO:0001589	frameshift_variant	23129				axon guidance	integral to membrane|intracellular|plasma membrane		g.chr3:129324627_129324628insT	AY116661	CCDS33854.1	3q21.3	2007-05-16			ENSG00000004399	ENSG00000004399		"Plexins"	9107	protein-coding gene	gene with protein product		604282				12412018	Standard	NM_015103		Approved	KIAA0620	uc003emx.2	Q9Y4D7	OTTHUMG00000159547	ENST00000324093.4:c.855_856insA	3.37:g.129324627_129324628insT	ENSP00000317128:p.Pro286fs					PLXND1_ENST00000324093.4_Frame_Shift_Ins_p.HV285fs	p.HV285fs			Q9Y4D7	PLXD1_HUMAN			1	1033_1034	-			285			Sema.		A7E2C6|C9JPZ6|Q6PJS9|Q8IZJ2|Q9BTQ2	Frame_Shift_Ins	INS	ENST00000324093.4	37	c.855_856insA	CCDS33854.1																																																																																				0.673	PLXND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356132.4	NM_015103		6	1						6	1	---	---	---	---	T	129324628	-	T	129324627	7	5	90	1	0	1	1	0	0	0	0	0	12127	1232	43	0	5065	0	PLXND1	3	129324627	Frame_Shift_Ins	INS	-	TCGA-EJ-7328-01A-31D-2114-08	67007593	129324627	68697803	12	4606											
LPHN3	23284	broad.mit.edu	37	chr4	62679557	62679557	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcatggacaagtttcatacaTttctccgccaattcaccttg	10	14	5	12	1	4	0	3	0	1	0	5	1	4	1	3	1	1	1	3	1	3	5			TCGA-EJ-7328-01A-31D-2114-08	TCGA-EJ-7328-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f4dae7e-36da-4014-a9df-9907ad1f7af8	fb1f3dbb-8353-4bfc-b0eb-5da03492262e	g.chr4:62679557T>A	ENST00000514591.1	+	8	1555	c.1226T>A	c.(1225-1227)aTt>aAt	p.I409N	LPHN3_ENST00000545650.1_Missense_Mutation_p.I409N|LPHN3_ENST00000504896.1_Missense_Mutation_p.I409N|LPHN3_ENST00000508946.1_Missense_Mutation_p.I409N|LPHN3_ENST00000514996.1_Missense_Mutation_p.I409N|LPHN3_ENST00000506720.1_Missense_Mutation_p.I477N|LPHN3_ENST00000509896.1_Missense_Mutation_p.I477N|LPHN3_ENST00000507625.1_Missense_Mutation_p.I477N|LPHN3_ENST00000506746.1_Missense_Mutation_p.I477N|LPHN3_ENST00000514157.1_Missense_Mutation_p.I409N|LPHN3_ENST00000512091.2_Missense_Mutation_p.I409N|LPHN3_ENST00000507164.1_Missense_Mutation_p.I477N|LPHN3_ENST00000506700.1_Missense_Mutation_p.I409N|LPHN3_ENST00000508693.1_Missense_Mutation_p.I477N|LPHN3_ENST00000511324.1_Missense_Mutation_p.I477N			Q9HAR2	LPHN3_HUMAN	latrophilin 3	409					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|G-protein coupled receptor activity (GO:0004930)			breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						gtttcatacatttctccgcca	0.363																																						ENST00000512091.1																			0				breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						c.(1225-1227)aTt>aAt		latrophilin 3							128	120	122					4																	62679557		1936	4143	6079	SO:0001583	missense	23284				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding	g.chr4:62679557T>A	AB018311	CCDS54768.1	4q13.1	2014-08-08				ENSG00000150471		"-", "GPCR / Class B : Orphans"	20974	protein-coding gene	gene with protein product						10994649	Standard	NM_015236		Approved	KIAA0768, LEC3	uc010ihh.3	Q9HAR2		ENST00000514591.1:c.1226T>A	4.37:g.62679557T>A	ENSP00000422533:p.Ile409Asn					LPHN3_ENST00000506700.1_Missense_Mutation_p.I409N|LPHN3_ENST00000511324.1_Missense_Mutation_p.I477N|LPHN3_ENST00000506720.1_Missense_Mutation_p.I477N|LPHN3_ENST00000507164.1_Missense_Mutation_p.I477N|LPHN3_ENST00000545650.1_Missense_Mutation_p.I409N|LPHN3_ENST00000506746.1_Missense_Mutation_p.I477N|LPHN3_ENST00000509896.1_Missense_Mutation_p.I477N|LPHN3_ENST00000514996.1_Missense_Mutation_p.I409N|LPHN3_ENST00000514157.1_Missense_Mutation_p.I409N|LPHN3_ENST00000508946.1_Missense_Mutation_p.I409N|LPHN3_ENST00000504896.1_Missense_Mutation_p.I409N|LPHN3_ENST00000507625.1_Missense_Mutation_p.I477N|LPHN3_ENST00000508693.1_Missense_Mutation_p.I477N|LPHN3_ENST00000514591.1_Missense_Mutation_p.I409N	p.I409N			Q9HAR2	LPHN3_HUMAN			8	1973	+			409					E9PE04|O94867|Q9NWK5	Missense_Mutation	SNP	ENST00000514591.1	37	c.1226T>A	CCDS54768.1	.	.	.	.	.	.	.	.	.	.	T	12.24	1.877518	0.33162	.	.	ENSG00000150471	ENST00000512091;ENST00000514591;ENST00000509896;ENST00000511324;ENST00000506700;ENST00000534975;ENST00000545650;ENST00000295349;ENST00000280009;ENST00000507164;ENST00000508693;ENST00000507625;ENST00000514157;ENST00000504896;ENST00000508946;ENST00000506720;ENST00000506746;ENST00000514996	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.70399	-0.45;-0.45;-0.48;-0.48;-0.45;-0.45;-0.48;-0.48;-0.47;-0.44;-0.44;-0.43;-0.46;-0.46;-0.43	3.67	3.67	0.42095	.	0.534833	0.19481	N	0.113211	T	0.50531	0.1621	N	0.19112	0.55	0.31286	N	0.690009	B;B	0.34147	0.438;0.171	B;B	0.29862	0.108;0.048	T	0.55995	-0.8052	10	0.33141	T	0.24	.	9.0114	0.36144	0.0:0.0:0.0:1.0	.	409;409	E9PE04;Q9HAR2-2	.;.	N	409;409;477;477;409;409;409;409;409;477;477;477;409;409;409;477;477;409	ENSP00000423388:I409N;ENSP00000422533:I409N;ENSP00000423787:I477N;ENSP00000425033:I477N;ENSP00000424120:I409N;ENSP00000439831:I409N;ENSP00000421476:I477N;ENSP00000424030:I477N;ENSP00000421372:I477N;ENSP00000425201:I409N;ENSP00000423434:I409N;ENSP00000421627:I409N;ENSP00000420931:I477N;ENSP00000425884:I477N;ENSP00000424258:I409N	ENSP00000280009:I409N	I	+	2	0	LPHN3	62362152	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	2.916000	0.48813	1.900000	0.55004	0.460000	0.39030	ATT		0.363	LPHN3-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000361765.1			10	39	0	0	0	1	0	10	39					A	62679557	T	A	62679557	3	1	90	1	0	0	0	0	1	0	0	0	8917	1493	52	5	1248	5	LPHN3	4	62679557	Missense_Mutation	SNP	T	TCGA-EJ-7328-01A-31D-2114-08		62679557	128474719	13	4607											
FAT2	2196	broad.mit.edu	37	chr5	150911164	150911164	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tcacctgtgcgagcatccagGcggaacctgccttgctcgtt	6	10	11	14	3	1	0	1	0	0	0	3	2	2	1	4	2	5	3	4	2	1	2			TCGA-EJ-7328-01A-31D-2114-08	TCGA-EJ-7328-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f4dae7e-36da-4014-a9df-9907ad1f7af8	fb1f3dbb-8353-4bfc-b0eb-5da03492262e	g.chr5:150911164G>A	ENST00000261800.5	-	13	9807	c.9795C>T	c.(9793-9795)cgC>cgT	p.R3265R		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	3265	Cadherin 29. {ECO:0000255|PROSITE- ProRule:PRU00043}.				epithelial cell migration (GO:0010631)|homophilic cell adhesion (GO:0007156)	cell-cell adherens junction (GO:0005913)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GAGCATCCAGGCGGAACCTGC	0.652																																						ENST00000261800.5																			0				NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196						c.(9793-9795)cgC>cgT		FAT atypical cadherin 2							36	31	33					5																	150911164		2203	4300	6503	SO:0001819	synonymous_variant	2196				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding	g.chr5:150911164G>A	AF231022	CCDS4317.1	5q33.1	2014-07-21	2013-05-31		ENSG00000086570	ENSG00000086570		"Cadherins / Cadherin-related"	3596	protein-coding gene	gene with protein product	"cadherin-related family member 9"	604269	"FAT tumor suppressor (Drosophila) homolog 2", "FAT tumor suppressor homolog 2 (Drosophila)"			9693030	Standard	NM_001447		Approved	MEGF1, CDHF8, HFAT2, CDHR9	uc003lue.4	Q9NYQ8	OTTHUMG00000130126	ENST00000261800.5:c.9795C>T	5.37:g.150911164G>A							p.R3265R	NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		13	9807	-		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	3265			Cadherin 29.		O75091|Q9NSR7	Silent	SNP	ENST00000261800.5	37	c.9795C>T	CCDS4317.1	.	.	.	.	.	.	.	.	.	.	G	8.617	0.890559	0.17613	.	.	ENSG00000086570	ENST00000520200	.	.	.	5.21	-0.635	0.11512	.	.	.	.	.	T	0.43875	0.1267	.	.	.	0.58432	D	0.999998	.	.	.	.	.	.	T	0.29243	-1.0018	4	.	.	.	.	3.9819	0.09498	0.0763:0.3131:0.3485:0.2621	.	.	.	.	S	124	.	.	P	-	1	0	FAT2	150891357	0.472000	0.25870	0.999000	0.59377	0.764000	0.43329	-0.063000	0.11655	0.199000	0.20427	0.555000	0.69702	CCT		0.652	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252434.1	NM_001447		5	40	0	0	0	1	0	5	40					A	150911164	G	A	150911164	2	1	90	1	0	0	0	0	0	0	0	1	5690	1190	42	3		3	FAT2	5	150911164	Silent	SNP	G	TCGA-EJ-7328-01A-31D-2114-08		150911164	30004096	14	4608											
NEU1	4758	broad.mit.edu	37	chr6	31828260	31828260	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	attttcctgcttgggctgacCgtaggggatgccgctgaccc	5	11	13	12	2	0	2	0	2	0	0	1	3	1	3	4	3	2	4	4	3	1	4	rs145177628		TCGA-EJ-7328-01A-31D-2114-08	TCGA-EJ-7328-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f4dae7e-36da-4014-a9df-9907ad1f7af8	fb1f3dbb-8353-4bfc-b0eb-5da03492262e	g.chr6:31828260C>T	ENST00000375631.4	-	4	883	c.754G>A	c.(754-756)Ggt>Agt	p.G252S		NM_000434.3	NP_000425.1	Q99519	NEUR1_HUMAN	sialidase 1 (lysosomal sialidase)	252					glycosphingolipid metabolic process (GO:0006687)|lipid catabolic process (GO:0016042)|oligosaccharide catabolic process (GO:0009313)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)|plasma membrane (GO:0005886)	exo-alpha-(2->3)-sialidase activity (GO:0052794)|exo-alpha-(2->6)-sialidase activity (GO:0052795)|exo-alpha-(2->8)-sialidase activity (GO:0052796)|exo-alpha-sialidase activity (GO:0004308)			kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	10					Oseltamivir(DB00198)	TTGGGCTGACCGTAGGGGATG	0.577																																						ENST00000375631.4																			0				kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	10						c.(754-756)Ggt>Agt		sialidase 1 (lysosomal sialidase)	Oseltamivir(DB00198)|Zanamivir(DB00558)	C	SER/GLY	0,4406		0,0,2203	144	120	128		754	5.3	1	6	dbSNP_134	128	2,8598	2.2+/-6.3	0,2,4298	no	missense	NEU1	NM_000434.3	56	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	benign	252/416	31828260	2,13004	2203	4300	6503	SO:0001583	missense	4758					cytoplasmic membrane-bounded vesicle|lysosomal lumen|lysosomal membrane|plasma membrane	exo-alpha-sialidase activity|protein binding	g.chr6:31828260C>T	AF040958	CCDS4723.1	6p21	2012-10-02			ENSG00000204386	ENSG00000204386	3.2.1.18		7758	protein-coding gene	gene with protein product		608272		NEU		9054950	Standard	NM_000434		Approved		uc003nxq.4	Q99519	OTTHUMG00000031284	ENST00000375631.4:c.754G>A	6.37:g.31828260C>T	ENSP00000364782:p.Gly252Ser						p.G252S	NM_000434.3	NP_000425.1	Q99519	NEUR1_HUMAN			4	883	-			252						Missense_Mutation	SNP	ENST00000375631.4	37	c.754G>A	CCDS4723.1	.	.	.	.	.	.	.	.	.	.	C	10.57	1.386365	0.25031	0.0	2.33E-4	ENSG00000204386	ENST00000375631	D	0.89617	-2.54	5.32	5.32	0.75619	Neuraminidase (2);	0.109676	0.64402	D	0.000007	T	0.78298	0.4261	L	0.54323	1.7	0.36665	D	0.878195	P;P	0.51240	0.943;0.935	B;B	0.42422	0.387;0.278	T	0.75539	-0.3282	10	0.14656	T	0.56	-13.2786	9.8179	0.40865	0.0:0.9096:0.0:0.0904	.	252;252	E9PIF4;Q99519	.;NEUR1_HUMAN	S	252	ENSP00000364782:G252S	ENSP00000364782:G252S	G	-	1	0	NEU1	31936239	1.000000	0.71417	0.970000	0.41538	0.068000	0.16541	5.136000	0.64783	2.775000	0.95449	0.655000	0.94253	GGT		0.577	NEU1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076616.2			19	101	0	0	0	1	0	19	101					T	31828260	C	T	31828260	3	4	90	1	0	0	0	0	1	0	0	0	10341	652	23	2	505	2	NEU1	6	31828260	Missense_Mutation	SNP	C	TCGA-EJ-7328-01A-31D-2114-08		31828260	139286807	15	4609											
AKAP9	10142	broad.mit.edu	37	chr7	91691589	91691589	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgttaattttgtattataggCgtcattgatggctatgcaga	10	17	10	4	1	1	2	1	1	0	1	1	2	1	2	0	2	1	4	0	2	5	8			TCGA-EJ-7328-01A-31D-2114-08	TCGA-EJ-7328-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f4dae7e-36da-4014-a9df-9907ad1f7af8	fb1f3dbb-8353-4bfc-b0eb-5da03492262e	g.chr7:91691589C>T	ENST00000359028.2	+	25	6027	c.5802C>T	c.(5800-5802)ggC>ggT	p.G1934G	AKAP9_ENST00000358100.2_Splice_Site_p.G1934G|AKAP9_ENST00000356239.3_Splice_Site_p.G1922G|AKAP9_ENST00000491695.1_3'UTR			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	1934	Glu-rich.				G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|Sertoli cell development (GO:0060009)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)|synaptic transmission (GO:0007268)|transport (GO:0006810)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|pericentriolar material (GO:0000242)|voltage-gated potassium channel complex (GO:0008076)	ion channel binding (GO:0044325)|protein complex scaffold (GO:0032947)|receptor binding (GO:0005102)			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			GTATTATAGGCGTCATTGATG	0.299			T	BRAF	papillary thyroid																																	ENST00000359028.2				Dom	yes		7	7q21-q22	10142	T	A kinase (PRKA) anchor protein (yotiao) 9			E	BRAF		papillary thyroid		0				NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155						c.e25-1		A kinase (PRKA) anchor protein 9							55	62	60					7																	91691589		2203	4300	6503	SO:0001630	splice_region_variant	10142				G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding	g.chr7:91691589C>T	AF091711	CCDS5622.1	7q21-q22	2014-09-17	2013-09-25		ENSG00000127914	ENSG00000127914		"A-kinase anchor proteins", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	379	protein-coding gene	gene with protein product	"A-kinase anchoring protein 450", "AKAP9-BRAF fusion protein", "AKAP120-like protein", "centrosome- and golgi-localized protein kinase N-associated protein", "protein kinase A anchoring protein 9", "A-kinase anchor protein, 350kDa", "protein phosphatase 1, regulatory subunit 45", "yotiao"	604001				9482789, 10390370, 24475373	Standard	NM_147185		Approved	KIAA0803, AKAP350, AKAP450, CG-NAP, YOTIAO, HYPERION, PRKA9, MU-RMS-40.16A, PPP1R45, LQT11	uc003ulg.3	Q99996	OTTHUMG00000131127	ENST00000359028.2:c.5801-1C>T	7.37:g.91691589C>T						AKAP9_ENST00000358100.2_Splice_Site_p.G1934_splice|AKAP9_ENST00000491695.1_3'UTR|AKAP9_ENST00000356239.3_Splice_Site_p.G1922_splice	p.G1934_splice			Q99996	AKAP9_HUMAN	STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)		25	6027	+	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		1934			Glu-rich.		A4D1F0|A4D1F2|A4D1F4|O14869|O43355|O94895|Q75N20|Q9UQH3|Q9UQQ4|Q9Y6B8|Q9Y6Y2	Splice_Site	SNP	ENST00000359028.2	37	c.5800_splice																																																																																					0.299	AKAP9-202	KNOWN	basic	protein_coding	protein_coding		NM_005751	Silent	10	40	0	0	0	1	0	10	40					T	91691589	C	T	91691589	5	4	90	1	0	0	0	0	0	0	1	0	459	782	27	1	5860	1	AKAP9	7	91691589	Splice_Site	SNP	C	TCGA-EJ-7328-01A-31D-2114-08		91691589	67447074	16	4610											
LAMB1	3912	broad.mit.edu	37	chr7	107569953	107569953	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgagaaaggctttcaactCgttcacgtatatcttctgtc	9	15	7	10	2	4	1	2	1	2	1	6	2	4	1	0	1	1	3	0	1	4	6			TCGA-EJ-7328-01A-31D-2114-08	TCGA-EJ-7328-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f4dae7e-36da-4014-a9df-9907ad1f7af8	9326de46-0981-4458-b17d-d52a96a120d5	g.chr7:107569953C>A	ENST00000222399.6	-	30	4879	c.4649G>T	c.(4648-4650)cGa>cTa	p.R1550L	LAMB1_ENST00000393561.1_Missense_Mutation_p.R1574L|LAMB1_ENST00000474380.1_5'UTR	NM_002291.2	NP_002282.2	P07942	LAMB1_HUMAN	laminin, beta 1	1550	Domain I.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|embryo implantation (GO:0007566)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of cell adhesion (GO:0007162)|neuron projection development (GO:0031175)|neuronal-glial interaction involved in cerebral cortex radial glia guided migration (GO:0021812)|odontogenesis (GO:0042476)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell proliferation (GO:0050679)|substrate adhesion-dependent cell spreading (GO:0034446)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-2 complex (GO:0005607)|laminin-8 complex (GO:0043257)|perinuclear region of cytoplasm (GO:0048471)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)|structural molecule activity (GO:0005198)			NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)	82						GCTTTCAACTCGTTCACGTAT	0.418																																						ENST00000393561.1																			0				NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)	82						c.(4720-4722)cGa>cTa		laminin, beta 1	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						201	169	180					7																	107569953		2203	4300	6503	SO:0001583	missense	3912				axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm	extracellular matrix structural constituent	g.chr7:107569953C>A	M61916	CCDS5750.1	7q22	2013-03-01			ENSG00000091136	ENSG00000091136		"Laminins"	6486	protein-coding gene	gene with protein product		150240	"cutis laxa with marfanoid phenotype"	CLM		2563160, 2704655, 1864606	Standard	NM_002291		Approved		uc003vew.2	P07942	OTTHUMG00000149966	ENST00000222399.6:c.4649G>T	7.37:g.107569953C>A	ENSP00000222399:p.Arg1550Leu					LAMB1_ENST00000474380.1_5'UTR|LAMB1_ENST00000222399.6_Missense_Mutation_p.R1550L	p.R1574L			P07942	LAMB1_HUMAN			28	4905	-			1550			Domain I.		Q14D91	Missense_Mutation	SNP	ENST00000222399.6	37	c.4721G>T	CCDS5750.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.341741	0.81911	.	.	ENSG00000091136	ENST00000393561;ENST00000222399	T;T	0.76578	-1.03;-1.03	5.42	4.54	0.55810	Prefoldin (1);	.	.	.	.	T	0.71341	0.3328	L	0.42686	1.345	0.80722	D	1	P;P	0.40834	0.474;0.73	B;B	0.39339	0.297;0.256	T	0.71889	-0.4456	9	0.40728	T	0.16	.	14.0718	0.64865	0.0:0.9283:0.0:0.0717	.	1550;1574	P07942;G3XAI2	LAMB1_HUMAN;.	L	1574;1550	ENSP00000377191:R1574L;ENSP00000222399:R1550L	ENSP00000222399:R1550L	R	-	2	0	LAMB1	107357189	0.917000	0.31117	0.962000	0.40283	0.991000	0.79684	2.321000	0.43805	1.517000	0.48917	0.650000	0.86243	CGA		0.418	LAMB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314584.1	NM_002291		3	79	1	0	1	1	1	3	79					A	107569953	C	A	107569953	3	1	90	1	0	0	0	0	1	0	0	0	8610	884	31	5	731	5	LAMB1	7	107569953	Missense_Mutation	SNP	C	TCGA-EJ-7328-01A-31D-2114-08	15878364	107569953	51568710	17	4611											
MNX1	3110	broad.mit.edu	37	chr7	156802527	156802529	+	In_Frame_Del	DEL	GCC	GCC	-																															ggtgctggcccgccagcgcaGccgccgccgccgccgcggag																										TCGA-EJ-7328-01A-31D-2114-08	TCGA-EJ-7328-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f4dae7e-36da-4014-a9df-9907ad1f7af8	9326de46-0981-4458-b17d-d52a96a120d5	g.chr7:156802527_156802529delGCC	ENST00000252971.6	-	1	816_818	c.516_518delGGC	c.(514-519)gcggct>gct	p.172_173AA>A	MNX1_ENST00000543409.1_5'Flank|MNX1_ENST00000469500.1_5'Flank|MNX1-AS1_ENST00000480284.1_RNA|MNX1-AS2_ENST00000429228.1_RNA	NM_005515.3	NP_005506.3	P50219	MNX1_HUMAN	motor neuron and pancreas homeobox 1	172	Poly-Ala.				anatomical structure morphogenesis (GO:0009653)|diaphragm development (GO:0060539)|dorsal/ventral neural tube patterning (GO:0021904)|endocrine pancreas development (GO:0031018)|humoral immune response (GO:0006959)|motor neuron axon guidance (GO:0008045)|nerve development (GO:0021675)|neuron migration (GO:0001764)|post-embryonic development (GO:0009791)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|spinal cord motor neuron cell fate specification (GO:0021520)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|large_intestine(1)|lung(4)|skin(1)	7	Ovarian(565;0.218)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.00301)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CGCCAGCGCAGCCGCCGCCGCCG	0.803																																						ENST00000252971.6																			0				endometrium(1)|large_intestine(1)|lung(4)|skin(1)	7						c.(514-519)gct>gc		motor neuron and pancreas homeobox 1				5,233		1,3,115						-3.2	1			2	20,1110		4,12,549	no	coding	MNX1	NM_005515.3		5,15,664	A1A1,A1R,RR		1.7699,2.1008,1.8275				25,1343				SO:0001651	inframe_deletion	3110				humoral immune response|regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:156802527_156802529delGCC	AF107457	CCDS34788.1, CCDS55187.1	7q36	2012-03-09	2007-08-09	2007-08-09	ENSG00000130675	ENSG00000130675		"Homeoboxes / ANTP class : HOXL subclass"	4979	protein-coding gene	gene with protein product		142994	"homeo box HB9", "homeobox HB9"	HLXB9		9843207	Standard	NM_001165255		Approved	HB9, HOXHB9, SCRA1	uc003wmz.4	P50219	OTTHUMG00000157181	ENST00000252971.6:c.516_518delGGC	7.37:g.156802536_156802538delGCC	ENSP00000252971:p.Ala174del						p.AA172del	NM_005515.3	NP_005506.3	P50219	MNX1_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00301)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	1	816_818	-	Ovarian(565;0.218)	all_hematologic(28;0.0592)	172			Poly-Ala.		F5H401|Q9Y648	In_Frame_Del	DEL	ENST00000252971.6	37	c.516_518delGGC	CCDS34788.1																																																																																				0.803	MNX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347796.3			3	4						3	4	---	---	---	---	-	156802529	GCC	-	156802527	7	5	90	1	0	1	0	1	0	0	0	0	9679	971	34	0	758	0	MNX1	7	156802527	In_Frame_Del	DEL	GCC	TCGA-EJ-7328-01A-31D-2114-08	49232574	156802527	2336136	18	4612											
ASAH1	427	broad.mit.edu	37	chr8	17916924	17916924	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaagaagggatgtttccaacGgtcataatttgtttgtacca	12	13	10	6	1	1	1	1	0	0	1	2	3	2	2	2	2	2	3	2	2	5	5	rs147830297		TCGA-EJ-7328-01A-31D-2114-08	TCGA-EJ-7328-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f4dae7e-36da-4014-a9df-9907ad1f7af8	fb1f3dbb-8353-4bfc-b0eb-5da03492262e	g.chr8:17916924G>T	ENST00000262097.6	-	12	1278	c.967C>A	c.(967-969)Cgt>Agt	p.R323S	ASAH1_ENST00000520781.1_Missense_Mutation_p.R298S|ASAH1_ENST00000381733.4_Missense_Mutation_p.R339S|ASAH1_ENST00000417108.2_Missense_Mutation_p.R233S|ASAH1_ENST00000314146.10_Missense_Mutation_p.R317S	NM_177924.3	NP_808592.2	Q13510	ASAH1_HUMAN	N-acylsphingosine amidohydrolase (acid ceramidase) 1	323					cell death (GO:0008219)|ceramide metabolic process (GO:0006672)|glycosphingolipid metabolic process (GO:0006687)|lung development (GO:0030324)|response to organic substance (GO:0010033)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)	catalytic activity (GO:0003824)|ceramidase activity (GO:0017040)			breast(1)|endometrium(2)|large_intestine(4)|lung(2)	9				Colorectal(111;0.0646)|COAD - Colon adenocarcinoma(73;0.228)		TGTTTCCAACGGTCATAATTT	0.448																																						ENST00000262097.6																			0				breast(1)|endometrium(2)|large_intestine(4)|lung(2)	9						c.(967-969)Cgt>Agt		N-acylsphingosine amidohydrolase (acid ceramidase) 1							201	178	186					8																	17916924		2203	4300	6503	SO:0001583	missense	427				ceramide metabolic process	lysosome	ceramidase activity	g.chr8:17916924G>T	U70063	CCDS6005.1, CCDS6006.1, CCDS47813.1	8p22	2007-03-27	2002-09-11	2002-09-13	ENSG00000104763	ENSG00000104763			735	protein-coding gene	gene with protein product		613468	"N-acylsphingosine amidohydrolase (acid ceramidase)"	ASAH		8955159, 10610716	Standard	NM_004315		Approved	AC, PHP32, FLJ21558	uc003wyn.2	Q13510	OTTHUMG00000096997	ENST00000262097.6:c.967C>A	8.37:g.17916924G>T	ENSP00000262097:p.Arg323Ser					ASAH1_ENST00000520781.1_Missense_Mutation_p.R298S|ASAH1_ENST00000381733.4_Missense_Mutation_p.R339S|ASAH1_ENST00000417108.2_Missense_Mutation_p.R233S|ASAH1_ENST00000314146.10_Missense_Mutation_p.R317S	p.R323S	NM_177924.3	NP_808592.2	Q13510	ASAH1_HUMAN		Colorectal(111;0.0646)|COAD - Colon adenocarcinoma(73;0.228)	12	1278	-			323					E9PDS0|Q6W898|Q96AS2	Missense_Mutation	SNP	ENST00000262097.6	37	c.967C>A	CCDS6006.1	.	.	.	.	.	.	.	.	.	.	G	18.72	3.685057	0.68157	.	.	ENSG00000104763	ENST00000262097;ENST00000381733;ENST00000520781;ENST00000417108;ENST00000314146	T;T;T;T;T	0.79141	-1.24;-1.24;-1.24;-1.24;-1.24	5.53	4.65	0.58169	.	0.086593	0.85682	D	0.000000	T	0.80523	0.4639	M	0.83483	2.645	0.50813	D	0.99989	B;B;B;B	0.25719	0.132;0.108;0.132;0.05	B;B;B;B	0.29785	0.107;0.065;0.107;0.107	T	0.78401	-0.2218	10	0.35671	T	0.21	-0.9488	15.9679	0.79987	0.0:0.0:0.8644:0.1356	.	317;339;298;323	E9PDS0;Q13510-2;E7EMM4;Q13510	.;.;.;ASAH1_HUMAN	S	323;339;298;233;317	ENSP00000262097:R323S;ENSP00000371152:R339S;ENSP00000427751:R298S;ENSP00000394125:R233S;ENSP00000326970:R317S	ENSP00000262097:R323S	R	-	1	0	ASAH1	17961204	1.000000	0.71417	0.999000	0.59377	0.974000	0.67602	6.949000	0.75971	1.460000	0.47911	0.650000	0.86243	CGT		0.448	ASAH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214077.2	NM_004315		3	62	1	0	1	1	1	3	62					T	17916924	G	T	17916924	3	4	90	1	0	0	0	0	1	0	0	0	1006	1116	39	5	232	5	ASAH1	8	17916924	Missense_Mutation	SNP	G	TCGA-EJ-7328-01A-31D-2114-08		17916924	128447098	19	4613											
JPH1	56704	broad.mit.edu	37	chr8	75233375	75233375	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgggccaggtgtagcctcCgaccacctcgaagccgtgcg	6	6	14	15	4	0	0	0	0	0	0	2	2	1	0	6	2	3	2	6	2	2	1			TCGA-EJ-7328-01A-31D-2114-08	TCGA-EJ-7328-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f4dae7e-36da-4014-a9df-9907ad1f7af8	fb1f3dbb-8353-4bfc-b0eb-5da03492262e	g.chr8:75233375C>A	ENST00000342232.4	-	1	188	c.148G>T	c.(148-150)Gga>Tga	p.G50*	GDAP1_ENST00000521096.1_3'UTR	NM_020647.2	NP_065698.1	Q9HDC5	JPH1_HUMAN	junctophilin 1	50	Gly-rich.				calcium ion transport into cytosol (GO:0060402)|muscle organ development (GO:0007517)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)			endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	24	Breast(64;0.00576)		BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.0728)|all cancers(69;0.176)			GTGTAGCCTCCGACCACCTCG	0.701																																						ENST00000342232.4																			0				endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	24						c.(148-150)Gga>Tga		junctophilin 1							58	45	49					8																	75233375		2203	4299	6502	SO:0001587	stop_gained	56704				calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional membrane complex|junctional sarcoplasmic reticulum membrane|plasma membrane		g.chr8:75233375C>A	AB042634	CCDS6217.1	8q21	2008-07-03			ENSG00000104369	ENSG00000104369			14201	protein-coding gene	gene with protein product		605266				10891348, 10949023	Standard	XM_005251273		Approved	JP-1	uc003yae.3	Q9HDC5	OTTHUMG00000164524	ENST00000342232.4:c.148G>T	8.37:g.75233375C>A	ENSP00000344488:p.Gly50*					GDAP1_ENST00000521096.1_3'UTR	p.G50*	NM_020647.2	NP_065698.1	Q9HDC5	JPH1_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.0728)|all cancers(69;0.176)		1	188	-	Breast(64;0.00576)		50			Gly-rich.		B2RTZ0	Nonsense_Mutation	SNP	ENST00000342232.4	37	c.148G>T	CCDS6217.1	.	.	.	.	.	.	.	.	.	.	C	38	7.023247	0.98010	.	.	ENSG00000104369	ENST00000342232	.	.	.	3.83	3.83	0.44106	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	15.5307	0.75960	0.0:1.0:0.0:0.0	.	.	.	.	X	50	.	ENSP00000344488:G50X	G	-	1	0	JPH1	75395930	1.000000	0.71417	1.000000	0.80357	0.926000	0.56050	7.412000	0.80091	1.963000	0.57068	0.407000	0.27541	GGA		0.701	JPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379102.1			5	37	1	0	0.184627	1	0.191221	5	37					A	75233375	C	A	75233375	4	1	90	1	0	0	0	0	0	1	0	0	7960	661	23	5	1857	5	JPH1	8	75233375	Nonsense_Mutation	SNP	C	TCGA-EJ-7328-01A-31D-2114-08	57316451	75233375	71130647	20	4614											
GLDC	2731	broad.mit.edu	37	chr9	6540103	6540103	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gcctcaatatttgcagacttTttgaagggtctcgtgtccaa	9	14	9	9	1	2	2	1	1	1	1	4	2	3	2	2	1	1	1	2	1	4	4			TCGA-EJ-7328-01A-31D-2114-08	TCGA-EJ-7328-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f4dae7e-36da-4014-a9df-9907ad1f7af8	fb1f3dbb-8353-4bfc-b0eb-5da03492262e	g.chr9:6540103T>G	ENST00000321612.6	-	22	2763	c.2613A>C	c.(2611-2613)aaA>aaC	p.K871N	RN7SL25P_ENST00000583862.1_RNA	NM_000170.2	NP_000161.2	P23378	GCSP_HUMAN	glycine dehydrogenase (decarboxylating)	871					glycine catabolic process (GO:0006546)	mitochondrion (GO:0005739)	electron carrier activity (GO:0009055)|glycine dehydrogenase (decarboxylating) activity (GO:0004375)|lyase activity (GO:0016829)|pyridoxal phosphate binding (GO:0030170)			cervix(1)|endometrium(2)|large_intestine(5)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		Acute lymphoblastic leukemia(23;0.161)		GBM - Glioblastoma multiforme(50;0.0421)|Lung(218;0.134)	Glycine(DB00145)	TTGCAGACTTTTTGAAGGGTC	0.453																																						ENST00000321612.6																			0				cervix(1)|endometrium(2)|large_intestine(5)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						c.(2611-2613)aaA>aaC		glycine dehydrogenase (decarboxylating)	Glycine(DB00145)|Pyridoxal Phosphate(DB00114)						135	116	123					9																	6540103		2203	4300	6503	SO:0001583	missense	2731				glycine catabolic process	mitochondrion	electron carrier activity|glycine dehydrogenase (decarboxylating) activity|lyase activity|pyridoxal phosphate binding	g.chr9:6540103T>G	D90239	CCDS34987.1	9p22	2014-09-17	2006-05-22		ENSG00000178445	ENSG00000178445	1.4.4.2		4313	protein-coding gene	gene with protein product	"glycine cleavage system protein P", "glycine decarboxylase"	238300	"glycine dehydrogenase (decarboxylating; glycine decarboxylase, glycine cleavage system protein P)"			1993704, 1996985	Standard	NM_000170		Approved	GCSP, NKH	uc003zkc.3	P23378	OTTHUMG00000019524	ENST00000321612.6:c.2613A>C	9.37:g.6540103T>G	ENSP00000370737:p.Lys871Asn						p.K871N	NM_000170.2	NP_000161.2	P23378	GCSP_HUMAN		GBM - Glioblastoma multiforme(50;0.0421)|Lung(218;0.134)	22	2763	-		Acute lymphoblastic leukemia(23;0.161)	871					Q2M2F8	Missense_Mutation	SNP	ENST00000321612.6	37	c.2613A>C	CCDS34987.1	.	.	.	.	.	.	.	.	.	.	T	18.03	3.532829	0.64972	.	.	ENSG00000178445	ENST00000321612	D	0.86366	-2.11	5.16	1.47	0.22746	Pyridoxal phosphate-dependent transferase, major domain (1);	0.000000	0.85682	D	0.000000	D	0.94262	0.8157	H	0.96518	3.835	0.80722	D	1	D	0.76494	0.999	D	0.75020	0.985	D	0.92733	0.6201	10	0.66056	D	0.02	-20.0689	8.5626	0.33520	0.0:0.3814:0.0:0.6186	.	871	P23378	GCSP_HUMAN	N	871	ENSP00000370737:K871N	ENSP00000370737:K871N	K	-	3	2	GLDC	6530103	0.998000	0.40836	1.000000	0.80357	0.996000	0.88848	0.504000	0.22626	0.348000	0.23949	0.482000	0.46254	AAA		0.453	GLDC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051674.2	NM_000170		26	93	0	0	0	1	0	26	93					G	6540103	T	G	6540103	3	3	90	1	0	0	0	0	1	0	0	0	6433	1838	64	5	465	5	GLDC	9	6540103	Missense_Mutation	SNP	T	TCGA-EJ-7328-01A-31D-2114-08		6540103	134673328	21	4615											
HNRNPF	3185	broad.mit.edu	37	chr10	43882502	43882502	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcactgtgaactcactgtcGccgtatctgtggtcatacat	8	13	9	11	2	3	1	2	1	1	0	4	1	3	1	1	1	3	2	1	1	3	2	rs566452971		TCGA-EJ-7328-01A-31D-2114-08	TCGA-EJ-7328-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f4dae7e-36da-4014-a9df-9907ad1f7af8	fb1f3dbb-8353-4bfc-b0eb-5da03492262e	g.chr10:43882502G>A	ENST00000544000.1	-	4	1238	c.831C>T	c.(829-831)ggC>ggT	p.G277G	HNRNPF_ENST00000356053.3_Silent_p.G277G|HNRNPF_ENST00000337970.3_Silent_p.G277G|HNRNPF_ENST00000443950.2_Silent_p.G277G|HNRNPF_ENST00000498176.1_5'Flank|HNRNPF_ENST00000357065.4_Silent_p.G277G	NM_001098207.1	NP_001091677.1	P52597	HNRPF_HUMAN	heterogeneous nuclear ribonucleoprotein F	277					gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|regulation of RNA splicing (GO:0043484)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|single-stranded RNA binding (GO:0003727)			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|urinary_tract(1)	19						ACTCACTGTCGCCGTATCTGT	0.552													G|||	1	0.000199681	8e-04	0	5008	,	,		18509	0		0	False		,,,				2504	0					ENST00000443950.2																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|urinary_tract(1)	19						c.(829-831)ggC>ggT		heterogeneous nuclear ribonucleoprotein F							58	51	53					10																	43882502		2203	4300	6503	SO:0001819	synonymous_variant	3185				regulation of RNA splicing	catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|single-stranded RNA binding	g.chr10:43882502G>A		CCDS7204.1	10q11.21	2013-02-12		2008-04-18	ENSG00000169813	ENSG00000169813		"RNA binding motif (RRM) containing"	5039	protein-coding gene	gene with protein product		601037		HNRPF		7499401	Standard	NM_001098208		Approved		uc001jas.2	P52597	OTTHUMG00000018029	ENST00000544000.1:c.831C>T	10.37:g.43882502G>A						HNRNPF_ENST00000357065.4_Silent_p.G277G|HNRNPF_ENST00000337970.3_Silent_p.G277G|HNRNPF_ENST00000544000.1_Silent_p.G277G|HNRNPF_ENST00000356053.3_Silent_p.G277G	p.G277G	NM_001098208.1	NP_001091678.1	P52597	HNRPF_HUMAN			3	1317	-			277					B3KM84|Q5T0N2|Q96AU2	Silent	SNP	ENST00000544000.1	37	c.831C>T	CCDS7204.1																																																																																				0.552	HNRNPF-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047705.2			9	26	0	0	0	1	0	9	26					A	43882502	G	A	43882502	2	1	90	1	0	0	0	0	0	0	0	1	7265	1074	38	1		1	HNRNPF	10	43882502	Silent	SNP	G	TCGA-EJ-7328-01A-31D-2114-08		43882502	91652245	22	4616											
ZNF485	220992	broad.mit.edu	37	chr10	44112021	44112021	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcatcccttttaaatcaccAtaaggttcatgcaggcaaac	13	12	5	11	0	3	0	3	0	0	0	4	0	4	0	2	2	2	3	2	2	4	5	rs372395438	byFrequency	TCGA-EJ-7328-01A-31D-2114-08	TCGA-EJ-7328-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f4dae7e-36da-4014-a9df-9907ad1f7af8	fb1f3dbb-8353-4bfc-b0eb-5da03492262e	g.chr10:44112021A>G	ENST00000361807.3	+	5	724	c.530A>G	c.(529-531)cAt>cGt	p.H177R	ZNF485_ENST00000374435.3_Missense_Mutation_p.H177R|ZNF485_ENST00000374437.2_Missense_Mutation_p.H86R	NM_145312.3	NP_660355.2	Q8NCK3	ZN485_HUMAN	zinc finger protein 485	177					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1)	16						TTAAATCACCATAAGGTTCAT	0.393													A|||	2	0.000399361	0.0015	0	5008	,	,		21066	0		0	False		,,,				2504	0					ENST00000361807.3																			0				breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1)	16						c.(529-531)cAt>cGt		zinc finger protein 485		A	ARG/HIS	0,4406		0,0,2203	106	103	104		530	-1.5	0.1	10		104	1,8599	1.2+/-3.3	0,1,4299	no	missense	ZNF485	NM_145312.3	29	0,1,6502	GG,GA,AA		0.0116,0.0,0.0077	benign	177/442	44112021	1,13005	2203	4300	6503	SO:0001583	missense	220992				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr10:44112021A>G	AK074679	CCDS7205.2	10q11.21	2013-01-08			ENSG00000198298	ENSG00000198298		"Zinc fingers, C2H2-type", "-"	23440	protein-coding gene	gene with protein product							Standard	NM_145312		Approved		uc010qfc.2	Q8NCK3	OTTHUMG00000018040	ENST00000361807.3:c.530A>G	10.37:g.44112021A>G	ENSP00000354694:p.His177Arg					ZNF485_ENST00000374435.3_Missense_Mutation_p.H177R|ZNF485_ENST00000374437.2_Missense_Mutation_p.H86R	p.H177R	NM_145312.3	NP_660355.2	Q8NCK3	ZN485_HUMAN			5	724	+			177					B4DSE6|Q96CL0	Missense_Mutation	SNP	ENST00000361807.3	37	c.530A>G	CCDS7205.2	.	.	.	.	.	.	.	.	.	.	A	2.554	-0.303305	0.05495	0.0	1.16E-4	ENSG00000198298	ENST00000361807;ENST00000374437;ENST00000374435	T;T;T	0.07114	3.22;3.22;3.22	2.52	-1.52	0.08637	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.02649	0.0080	N	0.02142	-0.665	0.09310	N	0.999999	B	0.02656	0.0	B	0.15052	0.012	T	0.41556	-0.9502	9	0.46703	T	0.11	.	3.0456	0.06152	0.5725:0.0:0.2434:0.1841	.	177	Q8NCK3	ZN485_HUMAN	R	177;86;177	ENSP00000354694:H177R;ENSP00000363560:H86R;ENSP00000363558:H177R	ENSP00000354694:H177R	H	+	2	0	ZNF485	43432027	0.000000	0.05858	0.134000	0.22075	0.075000	0.17131	-0.565000	0.05929	-0.363000	0.08101	-0.609000	0.04063	CAT		0.393	ZNF485-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047719.2	NM_145312		18	84	0	0	0	1	0	18	84					G	44112021	A	G	44112021	3	3	90	1	0	0	0	0	1	0	0	0	17935	217	8	4	544	4	ZNF485	10	44112021	Missense_Mutation	SNP	A	TCGA-EJ-7328-01A-31D-2114-08	229519	44112021	91422726	23	4617											
HKDC1	80201	broad.mit.edu	37	chr10	71008401	71008401	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caagatgcgggctgagctggAgtatgggctgaagaagaaga	13	6	17	5	1	0	6	0	2	0	4	0	7	0	7	0	3	2	4	0	3	5	1			TCGA-EJ-7328-01A-31D-2114-08	TCGA-EJ-7328-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f4dae7e-36da-4014-a9df-9907ad1f7af8	fb1f3dbb-8353-4bfc-b0eb-5da03492262e	g.chr10:71008401A>G	ENST00000354624.5	+	10	1620	c.1487A>G	c.(1486-1488)gAg>gGg	p.E496G	HKDC1_ENST00000488706.1_3'UTR|HKDC1_ENST00000395086.2_Missense_Mutation_p.E496G	NM_025130.3	NP_079406	Q2TB90	HKDC1_HUMAN	hexokinase domain containing 1	496	Hexokinase type-1 2.				carbohydrate phosphorylation (GO:0046835)|cellular glucose homeostasis (GO:0001678)|glucose 6-phosphate metabolic process (GO:0051156)|glycolytic process (GO:0006096)|hexose metabolic process (GO:0019318)	cytosol (GO:0005829)	ATP binding (GO:0005524)|fructokinase activity (GO:0008865)|glucokinase activity (GO:0004340)|mannokinase activity (GO:0019158)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(11)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						GCTGAGCTGGAGTATGGGCTG	0.657																																						ENST00000354624.5																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(11)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						c.(1486-1488)gAg>gGg		hexokinase domain containing 1							43	43	43					10																	71008401		2203	4300	6503	SO:0001583	missense	80201				glycolysis	mitochondrion|nucleus	ATP binding|hexokinase activity	g.chr10:71008401A>G		CCDS7288.1	10q22.1	2006-10-24			ENSG00000156510	ENSG00000156510			23302	protein-coding gene	gene with protein product						12477932	Standard	NM_025130		Approved	FLJ37767, FLJ22761	uc001jpf.4	Q2TB90	OTTHUMG00000018371	ENST00000354624.5:c.1487A>G	10.37:g.71008401A>G	ENSP00000346643:p.Glu496Gly					HKDC1_ENST00000395086.2_Missense_Mutation_p.E496G|HKDC1_ENST00000488706.1_3'UTR	p.E496G	NM_025130.3	NP_079406.3	Q2TB90	HKDC1_HUMAN			10	1620	+			496					B5MDN9|Q2TB91|Q5VTC7|Q7Z373|Q8WU37|Q96EH2|Q9H5Y9	Missense_Mutation	SNP	ENST00000354624.5	37	c.1487A>G	CCDS7288.1	.	.	.	.	.	.	.	.	.	.	A	16.39	3.108720	0.56291	.	.	ENSG00000156510	ENST00000354624;ENST00000395087;ENST00000395086	D;D	0.98567	-5.0;-5.0	4.85	4.85	0.62838	Hexokinase, N-terminal (1);	0.050425	0.85682	D	0.000000	D	0.97561	0.9201	M	0.84219	2.685	0.58432	D	0.999991	B	0.09022	0.002	B	0.20184	0.028	D	0.96788	0.9580	10	0.56958	D	0.05	-23.7884	14.2445	0.65978	1.0:0.0:0.0:0.0	.	496	Q2TB90	HKDC1_HUMAN	G	496	ENSP00000346643:E496G;ENSP00000378521:E496G	ENSP00000346643:E496G	E	+	2	0	HKDC1	70678407	1.000000	0.71417	0.530000	0.27963	0.765000	0.43378	7.237000	0.78164	2.031000	0.59945	0.379000	0.24179	GAG		0.657	HKDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048389.1	NM_025130		4	37	0	0	0	1	0	4	37					G	71008401	A	G	71008401	3	3	90	1	0	0	0	0	1	0	0	0	7193	304	11	4	1525	4	HKDC1	10	71008401	Missense_Mutation	SNP	A	TCGA-EJ-7328-01A-31D-2114-08	26896380	71008401	64526346	24	4618											
P4HA1	5033	broad.mit.edu	37	chr10	74769597	74769597	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caactagcactggacaggctGcatgccgtgtactataatct	11	10	9	11	1	1	0	0	0	1	0	1	1	1	1	1	2	5	4	1	2	5	4			TCGA-EJ-7328-01A-31D-2114-08	TCGA-EJ-7328-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f4dae7e-36da-4014-a9df-9907ad1f7af8	fb1f3dbb-8353-4bfc-b0eb-5da03492262e	g.chr10:74769597G>A	ENST00000307116.2	-	14	1618	c.1502C>T	c.(1501-1503)gCa>gTa	p.A501V	P4HA1_ENST00000394890.2_Missense_Mutation_p.A501V|P4HA1_ENST00000412021.2_Missense_Mutation_p.A501V|P4HA1_ENST00000440381.1_Missense_Mutation_p.A483V|P4HA1_ENST00000263556.3_Missense_Mutation_p.A501V|P4HA1_ENST00000373008.2_Missense_Mutation_p.A501V			P13674	P4HA1_HUMAN	prolyl 4-hydroxylase, alpha polypeptide I	501	Fe2OG dioxygenase. {ECO:0000255|PROSITE- ProRule:PRU00805}.				collagen fibril organization (GO:0030199)|peptidyl-proline hydroxylation to 4-hydroxy-L-proline (GO:0018401)	endoplasmic reticulum (GO:0005783)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrion (GO:0005739)|procollagen-proline 4-dioxygenase complex (GO:0016222)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen (GO:0016702)|procollagen-proline 4-dioxygenase activity (GO:0004656)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)	15	Prostate(51;0.0198)				Hydralazine(DB01275)|L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	TGGACAGGCTGCATGCCGTGT	0.373																																					Colon(147;367 2405 2662 52127)	ENST00000412021.2																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)	15						c.(1501-1503)gCa>gTa		prolyl 4-hydroxylase, alpha polypeptide I	Hydralazine(DB01275)|L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)						83	81	82					10																	74769597		2203	4300	6503	SO:0001583	missense	5033					endoplasmic reticulum lumen|mitochondrion	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 4-dioxygenase activity	g.chr10:74769597G>A		CCDS7320.1, CCDS41537.1, CCDS44432.1	10q21.3-q23.1	2008-12-09	2008-12-09		ENSG00000122884	ENSG00000122884	1.14.11.2		8546	protein-coding gene	gene with protein product	"collagen prolyl 4-hydroxylase alpha(I)"	176710	"procollagen-proline, 2-oxoglutarate 4-dioxygenase (proline 4-hydroxylase), alpha polypeptide I"	P4HA		2556027	Standard	NM_001017962		Approved	C-P4Halpha(I)	uc001jtg.3	P13674	OTTHUMG00000018449	ENST00000307116.2:c.1502C>T	10.37:g.74769597G>A	ENSP00000307318:p.Ala501Val					P4HA1_ENST00000394890.2_Missense_Mutation_p.A501V|P4HA1_ENST00000307116.2_Missense_Mutation_p.A501V|P4HA1_ENST00000440381.1_Missense_Mutation_p.A483V|P4HA1_ENST00000263556.3_Missense_Mutation_p.A501V|P4HA1_ENST00000373008.2_Missense_Mutation_p.A501V	p.A501V	NM_001142595.1	NP_001136067.1	P13674	P4HA1_HUMAN			15	1835	-	Prostate(51;0.0198)		501			Fe2OG dioxygenase.		C9JL12|Q15082|Q15083|Q5VSQ5	Missense_Mutation	SNP	ENST00000307116.2	37	c.1502C>T		.	.	.	.	.	.	.	.	.	.	G	35	5.511029	0.96386	.	.	ENSG00000122884	ENST00000307116;ENST00000373008;ENST00000412021;ENST00000394890;ENST00000263556;ENST00000440381	T;T;T;T;T;T	0.77489	-1.1;-1.1;-1.1;-1.1;-1.1;-1.1	5.29	5.29	0.74685	Oxoglutarate/iron-dependent oxygenase (2);Prolyl 4-hydroxylase, alpha subunit (1);	0.000000	0.85682	D	0.000000	D	0.92476	0.7611	H	0.96604	3.85	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;1.0	D	0.94869	0.8028	10	0.87932	D	0	-5.5709	18.5323	0.90997	0.0:0.0:1.0:0.0	.	483;501;501	C9JL12;Q5VSQ6;P13674	.;.;P4HA1_HUMAN	V	501;501;501;501;501;483	ENSP00000307318:A501V;ENSP00000362099:A501V;ENSP00000411688:A501V;ENSP00000378353:A501V;ENSP00000263556:A501V;ENSP00000414464:A483V	ENSP00000263556:A501V	A	-	2	0	P4HA1	74439603	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.348000	0.97062	2.490000	0.84030	0.655000	0.94253	GCA		0.373	P4HA1-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000048601.1	NM_000917		3	55	0	0	0	1	0	3	55					A	74769597	G	A	74769597	3	1	90	1	0	0	0	0	1	0	0	0	11356	1319	46	3	110	3	P4HA1	10	74769597	Missense_Mutation	SNP	G	TCGA-EJ-7328-01A-31D-2114-08	3761196	74769597	60765150	25	4619											
GRID1	2894	broad.mit.edu	37	chr10	87407079	87407079	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gggttggtgcccttggctcgGaagtactcatatacagcaga	9	10	13	9	1	1	1	1	0	0	1	2	2	1	2	1	4	4	4	1	4	4	5			TCGA-EJ-7328-01A-31D-2114-08	TCGA-EJ-7328-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f4dae7e-36da-4014-a9df-9907ad1f7af8	fb1f3dbb-8353-4bfc-b0eb-5da03492262e	g.chr10:87407079G>A	ENST00000327946.7	-	13	2158	c.2073C>T	c.(2071-2073)ttC>ttT	p.F691F	RP11-93H12.4_ENST00000474115.2_RNA|GRID1_ENST00000536331.1_Silent_p.F262F|RN7SKP238_ENST00000516483.1_RNA	NM_017551.2	NP_060021.1	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1	691					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|social behavior (GO:0035176)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|ionotropic glutamate receptor complex (GO:0008328)|postsynaptic membrane (GO:0045211)	extracellular-glutamate-gated ion channel activity (GO:0005234)|ionotropic glutamate receptor activity (GO:0004970)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106						CCTTGGCTCGGAAGTACTCAT	0.552										Multiple Myeloma(13;0.14)																												ENST00000327946.7																			0				NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106						c.(2071-2073)ttC>ttT		glutamate receptor, ionotropic, delta 1	L-Glutamic Acid(DB00142)						275	257	263					10																	87407079		2203	4300	6503	SO:0001819	synonymous_variant	2894					cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity	g.chr10:87407079G>A	AB033046	CCDS31236.1	10q22	2012-08-29			ENSG00000182771	ENSG00000182771		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4575	protein-coding gene	gene with protein product		610659					Standard	NM_017551		Approved	GluD1, KIAA1220	uc001kdl.1	Q9ULK0	OTTHUMG00000018650	ENST00000327946.7:c.2073C>T	10.37:g.87407079G>A		Multiple Myeloma(13;0.14)				RP11-93H12.4_ENST00000474115.2_RNA|GRID1_ENST00000536331.1_Silent_p.F262F	p.F691F	NM_017551.2	NP_060021.1	Q9ULK0	GRID1_HUMAN			13	2158	-			691					B3KXD5|B7Z7L0|Q8IXT3	Silent	SNP	ENST00000327946.7	37	c.2073C>T	CCDS31236.1																																																																																				0.552	GRID1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049148.3	XM_043613		8	331	0	0	0	1	0	8	331					A	87407079	G	A	87407079	2	1	90	1	0	0	0	0	0	0	0	1	6771	1165	41	3		3	GRID1	10	87407079	Silent	SNP	G	TCGA-EJ-7328-01A-31D-2114-08	12637482	87407079	48127668	26	4620											
IFIT5	24138	broad.mit.edu	37	chr10	91177946	91177946	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atatttcatttcaaagcagcCatggaacgagactctatgtt	13	13	7	8	1	3	1	2	0	1	1	3	3	3	2	1	1	3	2	1	1	4	5			TCGA-EJ-7328-01A-31D-2114-08	TCGA-EJ-7328-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f4dae7e-36da-4014-a9df-9907ad1f7af8	fb1f3dbb-8353-4bfc-b0eb-5da03492262e	g.chr10:91177946C>T	ENST00000371795.4	+	2	1203	c.990C>T	c.(988-990)gcC>gcT	p.A330A	IFIT5_ENST00000416601.1_Silent_p.A282A	NM_012420.2	NP_036552.1	Q13325	IFIT5_HUMAN	interferon-induced protein with tetratricopeptide repeats 5	330					defense response to virus (GO:0051607)|innate immune response (GO:0045087)	actin cytoskeleton (GO:0015629)|apical part of cell (GO:0045177)|ruffle membrane (GO:0032587)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|single-stranded RNA binding (GO:0003727)|tRNA binding (GO:0000049)			endometrium(1)|large_intestine(4)|lung(4)	9						TCAAAGCAGCCATGGAACGAG	0.433																																						ENST00000371795.4																			0				endometrium(1)|large_intestine(4)|lung(4)	9						c.(988-990)gcC>gcT		interferon-induced protein with tetratricopeptide repeats 5							151	142	145					10																	91177946		2203	4300	6503	SO:0001819	synonymous_variant	24138						binding	g.chr10:91177946C>T	U34605	CCDS7403.1	10q23.31	2013-01-10			ENSG00000152778	ENSG00000152778		"Tetratricopeptide (TTC) repeat domain containing"	13328	protein-coding gene	gene with protein product	"retinoic acid- and interferon-inducible protein (58kD)"					9398535	Standard	NM_012420		Approved	RI58	uc010qnh.2	Q13325	OTTHUMG00000018713	ENST00000371795.4:c.990C>T	10.37:g.91177946C>T						IFIT5_ENST00000416601.1_Silent_p.A282A	p.A330A	NM_012420.2	NP_036552.1	Q13325	IFIT5_HUMAN			2	1203	+			330					B2R5X9|B4DDV1|Q5T7I9|Q6IAX3	Silent	SNP	ENST00000371795.4	37	c.990C>T	CCDS7403.1																																																																																				0.433	IFIT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049303.1	NM_012420		31	159	0	0	0	1	0	31	159					T	91177946	C	T	91177946	2	4	90	1	0	0	0	0	0	0	0	1	7525	581	21	3		3	IFIT5	10	91177946	Silent	SNP	C	TCGA-EJ-7328-01A-31D-2114-08	3770867	91177946	44356801	27	4621											
PITX3	5309	broad.mit.edu	37	chr10	103990274	103990274	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tctacgggcggggccgctcaTacgggcctttccacggcgta	5	8	14	14	6	2	0	1	0	1	0	3	0	3	0	3	5	2	2	3	5	3	4			TCGA-EJ-7328-01A-31D-2114-08	TCGA-EJ-7328-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f4dae7e-36da-4014-a9df-9907ad1f7af8	fb1f3dbb-8353-4bfc-b0eb-5da03492262e	g.chr10:103990274T>C	ENST00000370002.3	-	4	1059	c.906A>G	c.(904-906)gtA>gtG	p.V302V	PITX3_ENST00000539804.1_Silent_p.V302V	NM_005029.3	NP_005020.1	O75364	PITX3_HUMAN	paired-like homeodomain 3	302					dopaminergic neuron differentiation (GO:0071542)|lens development in camera-type eye (GO:0002088)|lens fiber cell differentiation (GO:0070306)|lens morphogenesis in camera-type eye (GO:0002089)|locomotory behavior (GO:0007626)|midbrain development (GO:0030901)|neuron development (GO:0048666)|organ morphogenesis (GO:0009887)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			endometrium(1)|large_intestine(2)|lung(2)	5		Colorectal(252;0.00957)		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)		GGGCCGCTCATACGGGCCTTT	0.667																																						ENST00000370002.3																			0				endometrium(1)|large_intestine(2)|lung(2)	5						c.(904-906)gtA>gtG		paired-like homeodomain 3							18	20	19					10																	103990274		2196	4298	6494	SO:0001819	synonymous_variant	5309				dopaminergic neuron differentiation|lens morphogenesis in camera-type eye|midbrain development|positive regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr10:103990274T>C		CCDS7532.1	10q24.32	2013-11-14	2007-07-12		ENSG00000107859	ENSG00000107859		"Homeoboxes / PRD class"	9006	protein-coding gene	gene with protein product		602669	"paired-like homeodomain transcription factor 3", "anterior segment mesenchymal dysgenesis"	ASMD		9620774	Standard	NM_005029		Approved		uc001kuu.1	O75364	OTTHUMG00000018952	ENST00000370002.3:c.906A>G	10.37:g.103990274T>C						PITX3_ENST00000539804.1_Silent_p.V302V	p.V302V	NM_005029.3	NP_005020.1	O75364	PITX3_HUMAN		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)	4	1059	-		Colorectal(252;0.00957)	302					Q5VZL2	Silent	SNP	ENST00000370002.3	37	c.906A>G	CCDS7532.1																																																																																				0.667	PITX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050031.1			3	21	0	0	0	1	0	3	21					C	103990274	T	C	103990274	2	2	90	1	0	0	0	0	0	0	0	1	11956	1393	49	4		4	PITX3	10	103990274	Silent	SNP	T	TCGA-EJ-7328-01A-31D-2114-08	12812328	103990274	31544473	28	4622											
TRIM68	55128	broad.mit.edu	37	chr11	4626487	4626487	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggatgtagccttagcagaCggactttttctacaacattg	10	13	9	9	1	1	1	0	0	1	1	1	3	1	3	1	2	4	2	1	2	4	6	rs376554144		TCGA-EJ-7328-01A-31D-2114-08	TCGA-EJ-7328-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f4dae7e-36da-4014-a9df-9907ad1f7af8	fb1f3dbb-8353-4bfc-b0eb-5da03492262e	g.chr11:4626487C>T	ENST00000300747.5	-	2	537	c.248G>A	c.(247-249)cGt>cAt	p.R83H		NM_018073.6	NP_060543.5	Q6AZZ1	TRI68_HUMAN	tripartite motif containing 68	83					protein autoubiquitination (GO:0051865)|regulation of androgen receptor signaling pathway (GO:0060765)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|histone acetyltransferase binding (GO:0035035)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.R83H(1)		breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(4)|ovary(1)|urinary_tract(1)	15		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)		Epithelial(150;9.49e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0288)|LUSC - Lung squamous cell carcinoma(625;0.192)		CCTTAGCAGACGGACTTTTTC	0.532																																						ENST00000300747.5																			1	Substitution - Missense(1)	p.R83H(1)	lung(1)	breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(4)|ovary(1)|urinary_tract(1)	15						c.(247-249)cGt>cAt		tripartite motif containing 68		C	HIS/ARG	0,4402		0,0,2201	165	147	153		248	2.8	0.4	11		153	1,8595	1.2+/-3.3	0,1,4297	no	missense	TRIM68	NM_018073.5	29	0,1,6498	TT,TC,CC		0.0116,0.0,0.0077	benign	83/486	4626487	1,12997	2201	4298	6499	SO:0001583	missense	55128				protein autoubiquitination|regulation of androgen receptor signaling pathway	Golgi apparatus|nucleolus|perinuclear region of cytoplasm	androgen receptor binding|histone acetyltransferase binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr11:4626487C>T	AF360739	CCDS31356.1	11p15.4	2013-01-09	2011-01-25	2004-11-17		ENSG00000167333		"RING-type (C3HC4) zinc fingers", "Tripartite motif containing / Tripartite motif containing"	21161	protein-coding gene	gene with protein product		613184	"ring finger protein 137", "tripartite motif-containing 68"	RNF137		11597395	Standard	NM_018073		Approved	SS-56, FLJ10369	uc001lzf.2	Q6AZZ1		ENST00000300747.5:c.248G>A	11.37:g.4626487C>T	ENSP00000300747:p.Arg83His						p.R83H	NM_018073.6	NP_060543.5	Q6AZZ1	TRI68_HUMAN		Epithelial(150;9.49e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0288)|LUSC - Lung squamous cell carcinoma(625;0.192)	2	537	-		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)	83					A6NI19|A8K551|B3KPM5|B4DVK4|Q8WZ70|Q96LE5|Q96PF7|Q9H9C2|Q9NW18	Missense_Mutation	SNP	ENST00000300747.5	37	c.248G>A	CCDS31356.1	.	.	.	.	.	.	.	.	.	.	C	12.66	2.005997	0.35415	0.0	1.16E-4	ENSG00000167333	ENST00000300747;ENST00000533021	D;D	0.84730	-1.89;-1.89	4.7	2.82	0.32997	Zinc finger, RING/FYVE/PHD-type (1);	0.600314	0.15089	N	0.281169	D	0.85504	0.5712	M	0.86740	2.835	0.09310	N	1	B;B	0.21753	0.06;0.041	B;B	0.15870	0.006;0.014	T	0.78595	-0.2143	10	0.72032	D	0.01	.	9.4959	0.38989	0.0:0.8185:0.0:0.1815	.	83;83	E9PR29;Q6AZZ1	.;TRI68_HUMAN	H	83	ENSP00000300747:R83H;ENSP00000436112:R83H	ENSP00000300747:R83H	R	-	2	0	TRIM68	4583063	0.000000	0.05858	0.356000	0.25785	0.948000	0.59901	0.605000	0.24179	0.663000	0.31027	0.549000	0.68633	CGT		0.532	TRIM68-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385948.1	NM_018073		31	151	0	0	0	1	0	31	151					T	4626487	C	T	4626487	3	4	90	1	0	0	0	0	1	0	0	0	16538	536	19	1	1233	1	TRIM68	11	4626487	Missense_Mutation	SNP	C	TCGA-EJ-7328-01A-31D-2114-08		4626487	130380029	29	4623											
TSG101	7251	broad.mit.edu	37	chr11	18505466	18505466	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cttccagtttctggtgacccTttttcaggtcttcttctgtt	3	20	7	11	0	5	1	1	1	4	0	6	1	6	1	2	2	0	2	2	2	0	7			TCGA-EJ-7328-01A-31D-2114-08	TCGA-EJ-7328-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f4dae7e-36da-4014-a9df-9907ad1f7af8	fb1f3dbb-8353-4bfc-b0eb-5da03492262e	g.chr11:18505466T>C	ENST00000251968.3	-	8	1209	c.794A>G	c.(793-795)aAg>aGg	p.K265R	TSG101_ENST00000357193.3_Missense_Mutation_p.K160R|TSG101_ENST00000536719.1_Missense_Mutation_p.K265R	NM_006292.3	NP_006283.1	Q99816	TS101_HUMAN	tumor susceptibility 101	265					cell cycle arrest (GO:0007050)|cell division (GO:0051301)|cellular protein modification process (GO:0006464)|endosomal transport (GO:0016197)|intracellular transport of virus (GO:0075733)|keratinocyte differentiation (GO:0030216)|membrane organization (GO:0061024)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription, DNA-templated (GO:0045892)|protein transport (GO:0015031)|regulation of cell growth (GO:0001558)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)|viral budding (GO:0046755)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral protein processing (GO:0019082)|virion assembly (GO:0019068)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|endosome membrane (GO:0010008)|ESCRT I complex (GO:0000813)|extracellular vesicular exosome (GO:0070062)|late endosome (GO:0005770)|multivesicular body (GO:0005771)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	calcium-dependent protein binding (GO:0048306)|DNA binding (GO:0003677)|protein homodimerization activity (GO:0042803)|transcription corepressor activity (GO:0003714)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)			kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	22						CTGGTGACCCTTTTTCAGGTC	0.438																																					GBM(99;1348 1396 8611 26475 50572)	ENST00000536719.1																			0				kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	22						c.(793-795)aAg>aGg		tumor susceptibility 101							262	254	257					11																	18505466		2199	4293	6492	SO:0001583	missense	7251				cell division|cellular membrane organization|endosome transport|interspecies interaction between organisms|non-lytic virus budding|protein transport|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway	early endosome|late endosome membrane|multivesicular body|nucleolus|plasma membrane	calcium-dependent protein binding|DNA binding|transcription corepressor activity|ubiquitin binding|ubiquitin protein ligase binding	g.chr11:18505466T>C	U82130	CCDS7842.1	11p15	2013-08-22	2013-08-22		ENSG00000074319	ENSG00000074319			15971	protein-coding gene	gene with protein product		601387	"tumor susceptibility gene 10", "tumor susceptibility gene 101"	TSG10		9019400, 9241264	Standard	NM_006292		Approved	VPS23	uc001mor.3	Q99816	OTTHUMG00000167725	ENST00000251968.3:c.794A>G	11.37:g.18505466T>C	ENSP00000251968:p.Lys265Arg					TSG101_ENST00000251968.3_Missense_Mutation_p.K265R|TSG101_ENST00000357193.3_Missense_Mutation_p.K160R	p.K265R			Q99816	TS101_HUMAN			8	928	-			265					Q9BUM5	Missense_Mutation	SNP	ENST00000251968.3	37	c.794A>G	CCDS7842.1	.	.	.	.	.	.	.	.	.	.	T	16.11	3.030954	0.54790	.	.	ENSG00000074319	ENST00000536719;ENST00000251968;ENST00000357193	T;T;T	0.52983	0.64;0.64;0.64	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	T	0.38957	0.1060	L	0.41710	1.295	0.54753	D	0.999982	B	0.06786	0.001	B	0.06405	0.002	T	0.18903	-1.0322	10	0.19147	T	0.46	-23.3487	14.3285	0.66537	0.0:0.0:0.0:1.0	.	265	Q99816	TS101_HUMAN	R	265;265;160	ENSP00000438471:K265R;ENSP00000251968:K265R;ENSP00000349721:K160R	ENSP00000251968:K265R	K	-	2	0	TSG101	18462042	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.375000	0.79646	2.125000	0.65367	0.459000	0.35465	AAG		0.438	TSG101-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395906.1	NM_006292		4	273	0	0	0	1	0	4	273					C	18505466	T	C	18505466	3	2	90	1	0	0	0	0	1	0	0	0	16613	1609	56	4	390	4	TSG101	11	18505466	Missense_Mutation	SNP	T	TCGA-EJ-7328-01A-31D-2114-08	13878979	18505466	116501050	30	4624											
AGBL2	79841	broad.mit.edu	37	chr11	47712125	47712125	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatggaaactgaatggtccaCgtgagacagtagaagggctg	13	8	14	6	1	0	3	0	2	0	2	1	5	1	4	1	3	1	2	1	3	5	2	rs370106534	byFrequency	TCGA-EJ-7328-01A-31D-2114-08	TCGA-EJ-7328-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f4dae7e-36da-4014-a9df-9907ad1f7af8	fb1f3dbb-8353-4bfc-b0eb-5da03492262e	g.chr11:47712125C>T	ENST00000525123.1	-	10	1419	c.1134G>A	c.(1132-1134)acG>acA	p.T378T	AGBL2_ENST00000298861.4_Silent_p.T378T|AGBL2_ENST00000529712.1_5'UTR|AGBL2_ENST00000528244.1_Silent_p.T340T|AGBL2_ENST00000357610.3_Silent_p.T378T	NM_024783.3	NP_079059.2	Q5U5Z8	CBPC2_HUMAN	ATP/GTP binding protein-like 2	378						cytosol (GO:0005829)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)	p.T378T(1)		NS(1)|endometrium(5)|kidney(1)|large_intestine(8)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)	34						GAATGGTCCACGTGAGACAGT	0.463													C|||	2	0.000399361	0.0015	0	5008	,	,		22113	0		0	False		,,,				2504	0					ENST00000525123.1																			1	Substitution - coding silent(1)	p.T378T(1)	lung(1)	NS(1)|endometrium(5)|kidney(1)|large_intestine(8)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)	34						c.(1132-1134)acG>acA		ATP/GTP binding protein-like 2		C		1,4401	2.1+/-5.4	0,1,2200	180	153	162		1134	-6.7	0.9	11		162	0,8596		0,0,4298	no	coding-synonymous	AGBL2	NM_024783.3		0,1,6498	TT,TC,CC		0.0,0.0227,0.0077		378/903	47712125	1,12997	2201	4298	6499	SO:0001819	synonymous_variant	79841				proteolysis	cytosol	metallocarboxypeptidase activity|zinc ion binding	g.chr11:47712125C>T		CCDS7944.1	11p11.2	2014-06-23			ENSG00000165923	ENSG00000165923			26296	protein-coding gene	gene with protein product	"cytoplasmic carboxypeptidase 2"					12738998, 21303978	Standard	NM_024783		Approved	FLJ23598, CCP2	uc001ngg.3	Q5U5Z8	OTTHUMG00000165368	ENST00000525123.1:c.1134G>A	11.37:g.47712125C>T						AGBL2_ENST00000528244.1_Silent_p.T340T|AGBL2_ENST00000357610.3_Silent_p.T378T|AGBL2_ENST00000529712.1_5'UTR|AGBL2_ENST00000298861.4_Silent_p.T378T	p.T378T	NM_024783.3	NP_079059.2	Q5U5Z8	CBPC2_HUMAN			10	1419	-			378					A8MPX2|Q53FV5|Q8IV57|Q9H5C0	Silent	SNP	ENST00000525123.1	37	c.1134G>A	CCDS7944.1																																																																																				0.463	AGBL2-001	KNOWN	non_canonical_conserved|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000383726.2	NM_024783		17	105	0	0	0	1	0	17	105					T	47712125	C	T	47712125	2	4	90	1	0	0	0	0	0	0	0	1	376	523	19	1		1	AGBL2	11	47712125	Silent	SNP	C	TCGA-EJ-7328-01A-31D-2114-08	29206659	47712125	87294391	31	4625											
OR5F1	338674	broad.mit.edu	37	chr11	55761664	55761664	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaccctgcagcaaaagccccGgctgccatttttaggtagac	11	8	9	13	1	0	1	0	0	0	1	0	1	0	1	4	2	5	4	4	2	5	4			TCGA-EJ-7328-01A-31D-2114-08	TCGA-EJ-7328-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f4dae7e-36da-4014-a9df-9907ad1f7af8	fb1f3dbb-8353-4bfc-b0eb-5da03492262e	g.chr11:55761664G>A	ENST00000278409.1	-	1	437	c.438C>T	c.(436-438)gcC>gcT	p.A146A		NM_003697.1	NP_003688.1	O95221	OR5F1_HUMAN	olfactory receptor, family 5, subfamily F, member 1	146					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(6)|kidney(1)|large_intestine(11)|liver(1)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	58	Esophageal squamous(21;0.00448)					CAAAAGCCCCGGCTGCCATTT	0.502																																						ENST00000278409.1																			0				endometrium(6)|kidney(1)|large_intestine(11)|liver(1)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	58						c.(436-438)gcC>gcT		olfactory receptor, family 5, subfamily F, member 1							41	43	43					11																	55761664		2201	4296	6497	SO:0001819	synonymous_variant	338674				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55761664G>A	AF065863	CCDS31515.1	11q11	2012-08-09			ENSG00000149133	ENSG00000149133		"GPCR / Class A : Olfactory receptors"	8343	protein-coding gene	gene with protein product		608492				9787077	Standard	NM_003697		Approved	OR11-10	uc010riv.2	O95221	OTTHUMG00000166825	ENST00000278409.1:c.438C>T	11.37:g.55761664G>A							p.A146A	NM_003697.1	NP_003688.1	O95221	OR5F1_HUMAN			1	437	-	Esophageal squamous(21;0.00448)		146					Q495D1|Q6IFB9	Silent	SNP	ENST00000278409.1	37	c.438C>T	CCDS31515.1																																																																																				0.502	OR5F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391532.1	NM_003697		4	34	0	0	0	1	0	4	34					A	55761664	G	A	55761664	2	1	90	1	0	0	0	0	0	0	0	1	11158	1103	39	2		2	OR5F1	11	55761664	Silent	SNP	G	TCGA-EJ-7328-01A-31D-2114-08	8049539	55761664	79244852	32	4626											
CACNA2D4	93589	broad.mit.edu	37	chr12	2022195	2022195	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caggcctggagtacctggacCgcctcgactttcctccgcag	6	8	11	16	3	0	0	0	0	0	0	3	3	2	2	6	3	1	2	6	3	1	2	rs182825786		TCGA-EJ-7328-01A-31D-2114-08	TCGA-EJ-7328-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f4dae7e-36da-4014-a9df-9907ad1f7af8	fb1f3dbb-8353-4bfc-b0eb-5da03492262e	g.chr12:2022195C>T	ENST00000382722.5	-	3	782	c.420G>A	c.(418-420)gcG>gcA	p.A140A	CACNA2D4_ENST00000585732.1_Silent_p.A140A|CACNA2D4_ENST00000585708.1_Silent_p.A76A|CACNA2D4_ENST00000587995.1_Silent_p.A140A|CACNA2D4_ENST00000586184.1_Silent_p.A140A|CACNA2D4_ENST00000588077.1_Silent_p.A76A	NM_172364.4	NP_758952.4	Q7Z3S7	CA2D4_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 4	140					calcium ion transmembrane transport (GO:0070588)|detection of light stimulus involved in visual perception (GO:0050908)	voltage-gated calcium channel complex (GO:0005891)	metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			endometrium(3)|kidney(2)|large_intestine(1)|liver(1)|lung(27)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	39	Ovarian(42;0.107)	Myeloproliferative disorder(1001;0.206)	OV - Ovarian serous cystadenocarcinoma(31;0.00113)	Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451)		GTACCTGGACCGCCTCGACTT	0.597																																					Colon(2;101 179 21030 23310 28141)	ENST00000382722.5																			0				endometrium(3)|kidney(2)|large_intestine(1)|liver(1)|lung(27)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	39						c.(418-420)gcG>gcA		calcium channel, voltage-dependent, alpha 2/delta subunit 4							103	120	114					12																	2022195		2133	4246	6379	SO:0001819	synonymous_variant	93589					integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity	g.chr12:2022195C>T	AF516695	CCDS44785.1	12p13.33	2003-03-05			ENSG00000151062	ENSG00000151062		"Calcium channel subunits"	20202	protein-coding gene	gene with protein product		608171				12181424	Standard	NM_172364		Approved		uc021qsx.1	Q7Z3S7	OTTHUMG00000168111	ENST00000382722.5:c.420G>A	12.37:g.2022195C>T						CACNA2D4_ENST00000585708.1_Silent_p.A76A|CACNA2D4_ENST00000587995.1_Silent_p.A140A|CACNA2D4_ENST00000588077.1_Silent_p.A76A|CACNA2D4_ENST00000585732.1_Silent_p.A140A|CACNA2D4_ENST00000586184.1_Silent_p.A140A	p.A140A	NM_172364.4	NP_758952.4	Q7Z3S7	CA2D4_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00113)	Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451)	3	782	-	Ovarian(42;0.107)	Myeloproliferative disorder(1001;0.206)	140					Q7Z3S8|Q86XZ5|Q8IZS9	Silent	SNP	ENST00000382722.5	37	c.420G>A	CCDS44785.1																																																																																				0.597	CACNA2D4-001	KNOWN	non_canonical_U12|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000398230.2			8	30	0	0	0	1	0	8	30					T	2022195	C	T	2022195	2	4	90	1	0	0	0	0	0	0	0	1	2551	639	23	2		2	CACNA2D4	12	2022195	Silent	SNP	C	TCGA-EJ-7328-01A-31D-2114-08		2022195	131829700	33	4627											
SKA3	221150	broad.mit.edu	37	chr13	21729267	21729267	+	3'UTR	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcattttgttcagtttctgtGttggatagatccactggaat	8	18	9	6	0	3	1	2	0	1	1	4	3	4	3	1	2	0	3	1	2	2	6	rs11147977	byFrequency	TCGA-EJ-7328-01A-31D-2114-08	TCGA-EJ-7328-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f4dae7e-36da-4014-a9df-9907ad1f7af8	9326de46-0981-4458-b17d-d52a96a120d5	g.chr13:21729267G>A	ENST00000314759.5	-	0	1385				SKA3_ENST00000400018.3_Missense_Mutation_p.T381I	NM_145061.5	NP_659498.4	Q8IX90	SKA3_HUMAN	spindle and kinetochore associated complex subunit 3						chromosome segregation (GO:0007059)|mitotic nuclear division (GO:0007067)|regulation of microtubule polymerization or depolymerization (GO:0031110)	condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|spindle microtubule (GO:0005876)				breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19						CAGTTTCTGTGTTGGATAGAT	0.363																																						ENST00000400018.3																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19						c.(1141-1143)aCa>aTa		spindle and kinetochore associated complex subunit 3							141	146	144					13																	21729267		2202	4300	6502	SO:0001624	3_prime_UTR_variant	221150				cell division|chromosome segregation|mitosis|regulation of microtubule polymerization or depolymerization	condensed chromosome outer kinetochore|cytoplasm|spindle microtubule	protein binding	g.chr13:21729267G>A	AF361358	CCDS31946.1, CCDS53856.1	13q11	2013-01-17	2009-08-19	2009-08-19	ENSG00000165480	ENSG00000165480			20262	protein-coding gene	gene with protein product			"chromosome 13 open reading frame 3"	C13orf3		19387489, 19289083, 19646878, 19360002	Standard	NM_145061		Approved	MGC4832, RAMA1	uc001unt.3	Q8IX90	OTTHUMG00000016539	ENST00000314759.5:c.*22C>T	13.37:g.21729267G>A						SKA3_ENST00000314759.5_3'UTR	p.T381I	NM_001166017.1	NP_001159489.1	Q8IX90	SKA3_HUMAN			8	1211	-			0					A2A330|A2A331|B2RBY2|Q5VZV5|Q86WR2|Q8NBG1|Q96D22	Missense_Mutation	SNP	ENST00000314759.5	37	c.1142C>T	CCDS31946.1	234	0.10714285714285714	10	0.02032520325203252	48	0.13259668508287292	96	0.16783216783216784	80	0.10554089709762533	A	1.991	-0.431860	0.04669	.	.	ENSG00000165480	ENST00000400018	T	0.22945	1.93	4.07	-0.905	0.10527	.	.	.	.	.	T	0.00039	0.0001	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.30357	-0.9981	8	0.41790	T	0.15	.	4.7384	0.13001	0.4657:0.1694:0.365:0.0	rs11147977;rs52815571;rs61114986;rs11147977	381	Q8IX90-3	.	I	381	ENSP00000382896:T381I	ENSP00000382896:T381I	T	-	2	0	SKA3	20627267	0.001000	0.12720	0.000000	0.03702	0.014000	0.08584	0.200000	0.17257	-0.416000	0.07473	-0.893000	0.02921	ACA		0.363	SKA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000272912.1	NM_145061		3	33	0	0	0	1	0	3	33					A	21729267	G	A	21729267	1	1	90	0	1	0	0	0	0	0	0	0	14354	1377	48	3		3	SKA3	13	21729267	3'UTR	SNP	G	TCGA-EJ-7328-01A-31D-2114-08		21729267	93440611	34	4628											
BRCA2	90634	broad.mit.edu	37	chr13	32972737	32972738	+	IGR	INS	-	-	T																															aacaggagaaaaacaatttaINStatctgtcagtgaatccact																								rs55881945		TCGA-EJ-7328-01A-31D-2114-08	TCGA-EJ-7328-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f4dae7e-36da-4014-a9df-9907ad1f7af8	fb1f3dbb-8353-4bfc-b0eb-5da03492262e	g.chr13:32972737_32972738insT	ENST00000380130.2	-	0	3046				BRCA2_ENST00000380152.3_Frame_Shift_Ins_p.I3363fs|BRCA2_ENST00000544455.1_Frame_Shift_Ins_p.I3363fs	NM_052818.2	NP_438169.2	Q5TBK1	N42L1_HUMAN	NEDD4 binding protein 2-like 1											large_intestine(1)|lung(2)|ovary(1)|skin(1)	5		Lung SC(185;0.0262)		all cancers(112;6.3e-06)|Epithelial(112;3.51e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00607)|BRCA - Breast invasive adenocarcinoma(63;0.0171)		AAAACAATTTATATCTGTCAGT	0.381																																						ENST00000544455.1										"D, Mis, N, F, S"						"breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"	"breast, ovarian, pancreatic"		0				NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183						c.(10087-10089)atcfs	Homologous recombination	breast cancer 2, early onset																																				SO:0001628	intergenic_variant	675	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia			cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding	g.chr13:32972737_32972738insT	U50527	CCDS9345.2, CCDS41877.1	13q13.1	2008-11-05			ENSG00000139597	ENSG00000139597			25037	protein-coding gene	gene with protein product	"hypothetical gene CG018"					8812419	Standard	NM_052818		Approved	CG018	uc001uuc.3	Q5TBK1	OTTHUMG00000016697		13.37:g.32972738_32972738dupT		TCGA Ovarian(8;0.087)				BRCA2_ENST00000380152.3_Frame_Shift_Ins_p.I3363fs	p.I3363fs	NM_000059.3	NP_000050.2	P51587	BRCA2_HUMAN		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)	27	10314_10315	+		Lung SC(185;0.0262)	3363					A4QN21|Q5TBK0	Frame_Shift_Ins	INS	ENST00000380130.2	37	c.10087_10088insT	CCDS9345.2																																																																																				0.381	N4BP2L1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_052818		14	63						14	63	---	---	---	---	T	32972738	-	T	32972737	6	5	90	0	1	1	1	0	0	0	0	0	1499	449	16	0		0	BRCA2	13	32972737	IGR	INS	-	TCGA-EJ-7328-01A-31D-2114-08	11243470	32972737	82197141	35	4629											
RB1	5925	broad.mit.edu	37	chr13	48941653	48941653	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gaaaatctttctaaacgataCgaagaaatttatcttaaaaa	20	12	4	5	2	3	1	0	0	3	1	3	4	3	1	0	0	2	0	0	0	11	6	rs377235036		TCGA-EJ-7328-01A-31D-2114-08	TCGA-EJ-7328-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f4dae7e-36da-4014-a9df-9907ad1f7af8	fb1f3dbb-8353-4bfc-b0eb-5da03492262e	g.chr13:48941653C>T	ENST00000267163.4	+	10	1101	c.963C>T	c.(961-963)taC>taT	p.Y321Y		NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1	321					androgen receptor signaling pathway (GO:0030521)|cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|cell morphogenesis involved in neuron differentiation (GO:0048667)|chromatin remodeling (GO:0006338)|digestive tract development (GO:0048565)|enucleate erythrocyte differentiation (GO:0043353)|G1/S transition of mitotic cell cycle (GO:0000082)|glial cell apoptotic process (GO:0034349)|hepatocyte apoptotic process (GO:0097284)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|myoblast differentiation (GO:0045445)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0071930)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron apoptotic process (GO:0051402)|neuron maturation (GO:0042551)|neuron projection development (GO:0031175)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein localization to chromosome, centromeric region (GO:0071459)|Ras protein signal transduction (GO:0007265)|regulation of centromere complex assembly (GO:0090230)|regulation of cohesin localization to chromatin (GO:0071922)|regulation of lipid kinase activity (GO:0043550)|regulation of mitotic cell cycle (GO:0007346)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|sister chromatid biorientation (GO:0031134)|skeletal muscle cell differentiation (GO:0035914)|striated muscle cell differentiation (GO:0051146)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromatin (GO:0000785)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|Rb-E2F complex (GO:0035189)|spindle (GO:0005819)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|phosphoprotein binding (GO:0051219)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)	p.0?(15)|p.?(7)|p.Y321*(1)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	"""Insulin(DB00071)|Insulin Regular(DB00030)"	CTAAACGATACGAAGAAATTT	0.318		6	"D, Mis, N, F, S"		"retinoblastoma, sarcoma, breast, small cell lung"	"retinoblastoma, sarcoma, breast, small cell lung"			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)																												ENST00000267163.4		6	yes	Rec	yes	Familial retinoblastoma	13	13q14	5925	"D, Mis, N, F, S"	retinoblastoma gene			"L, E, M, O"		"retinoblastoma, sarcoma, breast, small cell lung"	"retinoblastoma, sarcoma, breast, small cell lung"		23	Whole gene deletion(15)|Unknown(7)|Substitution - Nonsense(1)	p.0?(15)|p.?(7)|p.Y321*(1)	bone(11)|breast(5)|adrenal_gland(1)|eye(1)|soft_tissue(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|endometrium(1)|lung(1)	NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496	GRCh37	CM034899	RB1	M		c.(961-963)taC>taT		retinoblastoma 1	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	C		1,4389	2.1+/-5.4	0,1,2194	55	66	63		963	1.5	1	13		63	0,8568		0,0,4284	no	coding-synonymous	RB1	NM_000321.2		0,1,6478	TT,TC,CC		0.0,0.0228,0.0077		321/929	48941653	1,12957	2195	4284	6479	SO:0001819	synonymous_variant	5925	Hereditary Retinoblastoma	Familial Cancer Database		androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	g.chr13:48941653C>T	M15400	CCDS31973.1	13q14.2	2014-09-17	2008-07-31		ENSG00000139687	ENSG00000139687		"Endogenous ligands"	9884	protein-coding gene	gene with protein product	"prepro-retinoblastoma-associated protein", "protein phosphatase 1, regulatory subunit 130"	614041	"osteosarcoma"	OSRC		1857421, 15057823	Standard	NM_000321		Approved	RB, PPP1R130	uc001vcb.3	P06400	OTTHUMG00000016900	ENST00000267163.4:c.963C>T	13.37:g.48941653C>T		TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)					p.Y321Y	NM_000321.2	NP_000312.2	P06400	RB_HUMAN		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	10	1101	+		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)	321					A8K5E3|P78499|Q5VW46|Q8IZL4	Silent	SNP	ENST00000267163.4	37	c.963C>T	CCDS31973.1																																																																																				0.318	RB1-002	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000044884.1			15	60	0	0	0	1	0	15	60					T	48941653	C	T	48941653	2	4	90	1	0	0	0	0	0	0	0	1	13098	547	19	1		1	RB1	13	48941653	Silent	SNP	C	TCGA-EJ-7328-01A-31D-2114-08	15968916	48941653	66228225	36	4630											
JPH4	84502	broad.mit.edu	37	chr14	24040525	24040525	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggctccggcaggcagggggtCgccagggttggcgggaggag	5	4	23	9	3	0	0	0	0	0	0	2	2	1	2	2	9	0	4	2	9	0	1	rs374663076		TCGA-EJ-7328-01A-31D-2114-08	TCGA-EJ-7328-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f4dae7e-36da-4014-a9df-9907ad1f7af8	fb1f3dbb-8353-4bfc-b0eb-5da03492262e	g.chr14:24040525C>T	ENST00000397118.3	-	6	2317	c.1415G>A	c.(1414-1416)cGa>cAa	p.R472Q	JPH4_ENST00000544177.1_Missense_Mutation_p.R137Q|JPH4_ENST00000356300.4_Missense_Mutation_p.R472Q	NM_032452.2	NP_115828.2	Q96JJ6	JPH4_HUMAN	junctophilin 4	472					calcium ion transport into cytosol (GO:0060402)|learning (GO:0007612)|neuromuscular process controlling balance (GO:0050885)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of synaptic plasticity (GO:0048167)	dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|smooth endoplasmic reticulum (GO:0005790)				endometrium(1)|large_intestine(2)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22	all_cancers(95;0.000251)			GBM - Glioblastoma multiforme(265;0.00654)		GGCAGGGGGTCGCCAGGGTTG	0.682																																						ENST00000397118.3																			0				endometrium(1)|large_intestine(2)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						c.(1414-1416)cGa>cAa		junctophilin 4		C	GLN/ARG,GLN/ARG	2,4404	4.2+/-10.8	0,2,2201	33	38	37		1415,1415	4.2	1	14		37	0,8600		0,0,4300	no	missense,missense	JPH4	NM_001146028.1,NM_032452.2	43,43	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	probably-damaging,probably-damaging	472/629,472/629	24040525	2,13004	2203	4300	6503	SO:0001583	missense	84502				calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane		g.chr14:24040525C>T	AB058734	CCDS9603.1	14q11	2004-05-28	2004-05-28	2004-05-28	ENSG00000092051	ENSG00000092051			20156	protein-coding gene	gene with protein product			"junctophilin like 1"	JPHL1		11347906	Standard	NM_032452		Approved	KIAA1831	uc001wkr.2	Q96JJ6	OTTHUMG00000028769	ENST00000397118.3:c.1415G>A	14.37:g.24040525C>T	ENSP00000380307:p.Arg472Gln					JPH4_ENST00000544177.1_Missense_Mutation_p.R137Q|JPH4_ENST00000356300.4_Missense_Mutation_p.R472Q	p.R472Q	NM_032452.2	NP_115828.2	Q96JJ6	JPH4_HUMAN		GBM - Glioblastoma multiforme(265;0.00654)	6	2317	-	all_cancers(95;0.000251)		472					D3DS53|Q8ND44|Q96DQ0	Missense_Mutation	SNP	ENST00000397118.3	37	c.1415G>A	CCDS9603.1	.	.	.	.	.	.	.	.	.	.	C	14.37	2.515903	0.44763	4.54E-4	0.0	ENSG00000092051	ENST00000356300;ENST00000397118;ENST00000543864;ENST00000267407;ENST00000544177	T;T;T	0.57107	0.42;0.42;0.76	5.17	4.23	0.50019	.	0.687587	0.10286	U	0.692970	T	0.41558	0.1164	N	0.14661	0.345	0.27518	N	0.95147	D;P	0.71674	0.998;0.918	P;B	0.49561	0.615;0.194	T	0.06023	-1.0850	10	0.14656	T	0.56	.	11.5338	0.50626	0.1783:0.8217:0.0:0.0	.	137;472	F5H1L9;Q96JJ6	.;JPH4_HUMAN	Q	472;472;472;473;137	ENSP00000348648:R472Q;ENSP00000380307:R472Q;ENSP00000439562:R137Q	ENSP00000267407:R473Q	R	-	2	0	JPH4	23110365	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.190000	0.32126	2.575000	0.86900	0.655000	0.94253	CGA		0.682	JPH4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413853.1	NM_032452		7	38	0	0	0	1	0	7	38					T	24040525	C	T	24040525	3	4	90	1	0	0	0	0	1	0	0	0	7963	884	31	2	479	2	JPH4	14	24040525	Missense_Mutation	SNP	C	TCGA-EJ-7328-01A-31D-2114-08		24040525	83309015	37	4631											
FOXN3	1112	broad.mit.edu	37	chr14	89878584	89878584	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gggctgacactcctgaggacCgactccccaaagctcttcag	9	7	10	15	1	2	2	1	2	1	0	4	4	4	3	4	2	1	2	4	2	1	1			TCGA-EJ-7328-01A-31D-2114-08	TCGA-EJ-7328-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f4dae7e-36da-4014-a9df-9907ad1f7af8	fb1f3dbb-8353-4bfc-b0eb-5da03492262e	g.chr14:89878584C>T	ENST00000345097.4	-	2	353	c.237G>A	c.(235-237)tcG>tcA	p.S79S	RP11-33N16.2_ENST00000556383.1_RNA|FOXN3_ENST00000261302.5_Silent_p.S79S|FOXN3_ENST00000557258.1_Silent_p.S79S|RP11-33N16.3_ENST00000555070.1_RNA|FOXN3_ENST00000555353.1_Silent_p.S79S	NM_001085471.1	NP_001078940.1	O00409	FOXN3_HUMAN	forkhead box N3	79					mitotic G2 DNA damage checkpoint (GO:0007095)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	protein C-terminus binding (GO:0008022)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(4)|large_intestine(4)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						TCCTGAGGACCGACTCCCCAA	0.587																																						ENST00000345097.4																			0				endometrium(4)|large_intestine(4)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						c.(235-237)tcG>tcA		forkhead box N3							76	65	69					14																	89878584		2203	4300	6503	SO:0001819	synonymous_variant	1112				DNA damage checkpoint|embryo development|G2 phase of mitotic cell cycle|negative regulation of transcription, DNA-dependent|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein C-terminus binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chr14:89878584C>T		CCDS32138.1, CCDS41977.1	14q32.11	2012-04-17	2007-05-02	2007-05-02	ENSG00000053254	ENSG00000053254		"Forkhead boxes"	1928	protein-coding gene	gene with protein product		602628	"chromosome 14 open reading frame 116", "checkpoint suppressor 1"	C14orf116, CHES1		9154802	Standard	NM_005197		Approved		uc001xxo.4	O00409	OTTHUMG00000170898	ENST00000345097.4:c.237G>A	14.37:g.89878584C>T						FOXN3_ENST00000557258.1_Silent_p.S79S|FOXN3_ENST00000555353.1_Silent_p.S79S|FOXN3_ENST00000261302.5_Silent_p.S79S	p.S79S	NM_001085471.1	NP_001078940.1	O00409	FOXN3_HUMAN			2	353	-			79					Q96II7|Q9UIE7	Silent	SNP	ENST00000345097.4	37	c.237G>A	CCDS41977.1																																																																																				0.587	FOXN3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410902.2	NM_005197		13	62	0	0	0	1	0	13	62					T	89878584	C	T	89878584	2	4	90	1	0	0	0	0	0	0	0	1	6021	639	23	2		2	FOXN3	14	89878584	Silent	SNP	C	TCGA-EJ-7328-01A-31D-2114-08	65838059	89878584	17470956	38	4632											
C15orf44	81556	broad.mit.edu	37	chr15	65871953	65871953	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gccacccctttcagcaggtcCaggaaaccaaaggctagagc	12	5	10	14	0	1	1	1	0	0	1	2	2	2	2	5	3	3	2	5	3	3	2			TCGA-EJ-7328-01A-31D-2114-08	TCGA-EJ-7328-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f4dae7e-36da-4014-a9df-9907ad1f7af8	fb1f3dbb-8353-4bfc-b0eb-5da03492262e	g.chr15:65871953C>G	ENST00000395644.4	-	12	1685	c.1350G>C	c.(1348-1350)ctG>ctC	p.L450L	VWA9_ENST00000420799.2_Silent_p.L393L|VWA9_ENST00000431261.2_Silent_p.L371L|VWA9_ENST00000313182.2_Silent_p.L450L|VWA9_ENST00000569491.1_Silent_p.L400L|VWA9_ENST00000442903.3_Silent_p.L414L|VWA9_ENST00000567744.1_Silent_p.L486L			Q96SY0	VWA9_HUMAN	von Willebrand factor A domain containing 9	450																	TCAGCAGGTCCAGGAAACCAA	0.527																																						ENST00000395644.4																			0											c.(1348-1350)ctG>ctC		von Willebrand factor A domain containing 9							59	52	55					15																	65871953		2201	4299	6500	SO:0001819	synonymous_variant	81556							g.chr15:65871953C>G	AL136662	CCDS55969.1, CCDS45283.1	15q22.31	2012-09-27	2012-09-27	2012-09-27	ENSG00000138614	ENSG00000138614			25372	protein-coding gene	gene with protein product			"chromosome 15 open reading frame 44"	C15orf44		11230166	Standard	NM_001136043		Approved	DKFZP564O1664	uc010uja.2	Q96SY0	OTTHUMG00000133159	ENST00000395644.4:c.1350G>C	15.37:g.65871953C>G						VWA9_ENST00000567744.1_Silent_p.L486L|VWA9_ENST00000313182.2_Silent_p.L450L|VWA9_ENST00000442903.3_Silent_p.L414L|VWA9_ENST00000569491.1_Silent_p.L400L|VWA9_ENST00000420799.2_Silent_p.L393L|VWA9_ENST00000431261.2_Silent_p.L371L	p.L450L							12	1685	-								B4DDI6|B4DVD5|Q49AH8|Q96HX5|Q9H0S5	Silent	SNP	ENST00000395644.4	37	c.1350G>C																																																																																					0.527	VWA9-201	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000420604.3	NM_030800		5	42	0	0	0	1	0	5	42					G	65871953	C	G	65871953	2	3	90	1	0	0	0	0	0	0	0	1	1798	581	21	5		5	C15orf44	15	65871953	Silent	SNP	C	TCGA-EJ-7328-01A-31D-2114-08		65871953	36659439	39	4633											
MC2R	4158	broad.mit.edu	37	chr18	13885200	13885200	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gagaggacaaacagggagtcGatgatgtcatcggctgtggt	11	8	16	6	2	1	2	1	1	0	1	3	6	1	4	0	4	1	1	0	4	1	0	rs147706299	byFrequency	TCGA-EJ-7328-01A-31D-2114-08	TCGA-EJ-7328-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f4dae7e-36da-4014-a9df-9907ad1f7af8	fb1f3dbb-8353-4bfc-b0eb-5da03492262e	g.chr18:13885200G>A	ENST00000327606.3	-	2	498	c.318C>T	c.(316-318)atC>atT	p.I106I		NM_000529.2	NP_000520.1	Q01718	ACTHR_HUMAN	melanocortin 2 receptor (adrenocorticotropic hormone)	106					G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|neuropeptide signaling pathway (GO:0007218)|placenta development (GO:0001890)|positive regulation of cAMP biosynthetic process (GO:0030819)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	corticotropin receptor activity (GO:0004978)|melanocortin receptor activity (GO:0004977)			breast(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(8)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30					Corticotropin(DB01285)|Cosyntropin(DB01284)	ACAGGGAGTCGATGATGTCAT	0.498													G|||	2	0.000399361	0	0	5008	,	,		21917	0		0.002	False		,,,				2504	0				Colon(141;1584 1782 35999 48227 48692)	ENST00000327606.3																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(8)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						c.(316-318)atC>atT		melanocortin 2 receptor (adrenocorticotropic hormone)	Corticotropin(DB01285)|Cosyntropin(DB01284)	G		3,4403	6.2+/-15.9	0,3,2200	121	87	99		318	-9.4	0.3	18	dbSNP_134	99	9,8591	7.1+/-27.0	0,9,4291	no	coding-synonymous	MC2R	NM_000529.2		0,12,6491	AA,AG,GG		0.1047,0.0681,0.0923		106/298	13885200	12,12994	2203	4300	6503	SO:0001819	synonymous_variant	0				G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	corticotropin receptor activity|protein binding	g.chr18:13885200G>A		CCDS11869.1	18p11.2	2012-08-10			ENSG00000185231	ENSG00000185231		"GPCR / Class A : Melanocortin receptors"	6930	protein-coding gene	gene with protein product		607397				8390157	Standard	NM_001291911		Approved	ACTHR	uc002ksp.1	Q01718	OTTHUMG00000131721	ENST00000327606.3:c.318C>T	18.37:g.13885200G>A							p.I106I	NM_000529.2	NP_000520.1	Q01718	ACTHR_HUMAN			2	498	-			106					A8K016|Q3MI45|Q504X6	Silent	SNP	ENST00000327606.3	37	c.318C>T	CCDS11869.1																																																																																				0.498	MC2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254639.2			19	49	0	0	0	1	0	19	49					A	13885200	G	A	13885200	2	1	90	1	0	0	0	0	0	0	0	1	9364	1048	37	2		2	MC2R	18	13885200	Silent	SNP	G	TCGA-EJ-7328-01A-31D-2114-08		13885200	64192048	40	4634											
MUC16	94025	broad.mit.edu	37	chr19	9082695	9082695	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagtgggggaaaggaagctTgtttctttctcagtggatag	9	12	15	5	0	2	0	1	0	2	0	3	3	2	3	0	4	1	3	0	4	3	4			TCGA-EJ-7328-01A-31D-2114-08	TCGA-EJ-7328-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f4dae7e-36da-4014-a9df-9907ad1f7af8	fb1f3dbb-8353-4bfc-b0eb-5da03492262e	g.chr19:9082695T>A	ENST00000397910.4	-	1	9323	c.9120A>T	c.(9118-9120)acA>acT	p.T3040T		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	3041	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AAAGGAAGCTTGTTTCTTTCT	0.483																																						ENST00000397910.4																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(9118-9120)acA>acT		mucin 16, cell surface associated							113	112	113					19																	9082695		1999	4182	6181	SO:0001819	synonymous_variant	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9082695T>A	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.9120A>T	19.37:g.9082695T>A							p.T3040T	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			1	9323	-			3041			Ser-rich.|Thr-rich.		Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	c.9120A>T	CCDS54212.1																																																																																				0.483	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		8	72	0	0	0	1	0	8	72					A	9082695	T	A	9082695	2	1	90	1	0	0	0	0	0	0	0	1	9973	1799	63	5		5	MUC16	19	9082695	Silent	SNP	T	TCGA-EJ-7328-01A-31D-2114-08		9082695	50046288	41	4635											
ZNF709	163051	broad.mit.edu	37	chr19	12575498	12575498	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggggtttctctccagtgtgaGttctttcatgcattcgaaag	7	15	11	8	1	3	1	1	1	2	0	6	2	4	1	1	2	1	3	1	2	1	4			TCGA-EJ-7328-01A-31D-2114-08	TCGA-EJ-7328-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f4dae7e-36da-4014-a9df-9907ad1f7af8	9326de46-0981-4458-b17d-d52a96a120d5	g.chr19:12575498G>A	ENST00000397732.3	-	4	1409	c.1238C>T	c.(1237-1239)aCt>aTt	p.T413I	ZNF709_ENST00000428311.1_Missense_Mutation_p.T413I|CTD-3105H18.18_ENST00000598753.1_Intron	NM_152601.3	NP_689814.1	Q8N972	ZN709_HUMAN	zinc finger protein 709	413					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.T413I(2)		large_intestine(3)|upper_aerodigestive_tract(3)	6						TCCAGTGTGAGTTCTTTCATG	0.418																																					GBM(33;565 669 12371 29134 51667)	ENST00000397732.3																			2	Substitution - Missense(2)	p.T413I(2)	kidney(1)|skin(1)	large_intestine(3)|upper_aerodigestive_tract(3)	6						c.(1237-1239)aCt>aTt		zinc finger protein 709							106	111	109					19																	12575498		2202	4299	6501	SO:0001583	missense	163051				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12575498G>A	AK095600	CCDS42504.1	19p13.2	2013-01-08			ENSG00000242852	ENSG00000242852		"Zinc fingers, C2H2-type", "-"	20629	protein-coding gene	gene with protein product							Standard	NM_152601		Approved	FLJ38281	uc002mtv.4	Q8N972	OTTHUMG00000156406	ENST00000397732.3:c.1238C>T	19.37:g.12575498G>A	ENSP00000380840:p.Thr413Ile					CTD-3105H18.18_ENST00000598753.1_Intron|ZNF709_ENST00000428311.1_Missense_Mutation_p.T413I	p.T413I	NM_152601.3	NP_689814.1	Q8N972	ZN709_HUMAN			4	1409	-			413					A8K4E6	Missense_Mutation	SNP	ENST00000397732.3	37	c.1238C>T	CCDS42504.1	.	.	.	.	.	.	.	.	.	.	G	0.031	-1.333208	0.01298	.	.	ENSG00000242852;ENSG00000196826	ENST00000397732;ENST00000428311	T;T	0.06142	3.34;3.34	3.05	-3.79	0.04320	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.35067	N	0.003471	T	0.01976	0.0062	N	0.11000	0.08	0.09310	N	1	B	0.28258	0.205	B	0.25884	0.064	T	0.43814	-0.9368	10	0.02654	T	1	.	5.8441	0.18652	0.2644:0.3999:0.3357:0.0	.	413	Q8N972	ZN709_HUMAN	I	413	ENSP00000380840:T413I;ENSP00000404127:T413I	ENSP00000404127:T413I	T	-	2	0	ZNF709;CTD-2192J16.17	12436498	0.000000	0.05858	0.002000	0.10522	0.972000	0.66771	-2.485000	0.00979	-0.610000	0.05716	0.591000	0.81541	ACT		0.418	ZNF709-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344088.1	NM_152601		4	98	0	0	0	1	0	4	98					A	12575498	G	A	12575498	3	1	90	1	0	0	0	0	1	0	0	0	18110	1029	36	3	691	3	ZNF709	19	12575498	Missense_Mutation	SNP	G	TCGA-EJ-7328-01A-31D-2114-08	3492803	12575498	46553485	42	4636											
TRMT1	55621	broad.mit.edu	37	chr19	13216326	13216326	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ccgggcacgaggccggggacCccagttggcctccgggttag	5	5	17	14	4	0	0	0	0	0	0	1	2	1	1	6	6	0	3	6	6	1	2			TCGA-EJ-7328-01A-31D-2114-08	TCGA-EJ-7328-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f4dae7e-36da-4014-a9df-9907ad1f7af8	fb1f3dbb-8353-4bfc-b0eb-5da03492262e	g.chr19:13216326C>T	ENST00000592062.1	-	16	2248	c.1678G>A	c.(1678-1680)Ggt>Agt	p.G560S	LYL1_ENST00000264824.4_5'Flank|TRMT1_ENST00000221504.8_Missense_Mutation_p.G531S|TRMT1_ENST00000357720.4_Missense_Mutation_p.G560S|TRMT1_ENST00000437766.1_Missense_Mutation_p.G560S			Q9NXH9	TRM1_HUMAN	tRNA methyltransferase 1 homolog (S. cerevisiae)	560							metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|tRNA (guanine-N2-)-methyltransferase activity (GO:0004809)|tRNA binding (GO:0000049)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(19;6.08e-22)	GBM - Glioblastoma multiforme(1328;0.0356)		GGCCGGGGACCCCAGTTGGCC	0.657																																						ENST00000592062.1																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	14						c.(1678-1680)Ggt>Agt		tRNA methyltransferase 1 homolog (S. cerevisiae)							60	72	68					19																	13216326		2203	4300	6503	SO:0001583	missense	55621						RNA binding|tRNA (guanine-N2-)-methyltransferase activity|zinc ion binding	g.chr19:13216326C>T	AF196479	CCDS12293.1, CCDS45997.1	19p13.13	2012-06-12	2012-06-12						25980	protein-coding gene	gene with protein product		611669				10982862	Standard	NM_001142554		Approved	FLJ20244, TRM1	uc002mwl.3	Q9NXH9		ENST00000592062.1:c.1678G>A	19.37:g.13216326C>T	ENSP00000466967:p.Gly560Ser					TRMT1_ENST00000437766.1_Missense_Mutation_p.G560S|TRMT1_ENST00000357720.4_Missense_Mutation_p.G560S|TRMT1_ENST00000221504.8_Missense_Mutation_p.G531S	p.G560S			Q9NXH9	TRM1_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;6.08e-22)	GBM - Glioblastoma multiforme(1328;0.0356)	16	2248	-			560					O76103|Q548Y5|Q8WVA6	Missense_Mutation	SNP	ENST00000592062.1	37	c.1678G>A	CCDS12293.1	.	.	.	.	.	.	.	.	.	.	C	32	5.126108	0.94429	.	.	ENSG00000104907	ENST00000357720;ENST00000437766;ENST00000221504	T;T;T	0.07444	3.19;3.19;3.19	4.53	4.53	0.55603	.	0.000000	0.85682	D	0.000000	T	0.36635	0.0974	M	0.91561	3.22	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.46484	-0.9188	10	0.87932	D	0	-19.969	14.7899	0.69833	0.0:1.0:0.0:0.0	.	531;560	Q9NXH9-2;Q9NXH9	.;TRM1_HUMAN	S	560;560;531	ENSP00000350352:G560S;ENSP00000416149:G560S;ENSP00000221504:G531S	ENSP00000221504:G531S	G	-	1	0	TRMT1	13077326	1.000000	0.71417	1.000000	0.80357	0.742000	0.42306	6.881000	0.75584	2.368000	0.80403	0.561000	0.74099	GGT		0.657	TRMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452780.2	NM_017722		21	143	0	0	0	1	0	21	143					T	13216326	C	T	13216326	3	4	90	1	0	0	0	0	1	0	0	0	16558	623	22	3	313	3	TRMT1	19	13216326	Missense_Mutation	SNP	C	TCGA-EJ-7328-01A-31D-2114-08	640828	13216326	45912657	43	4637											
SYDE1	85360	broad.mit.edu	37	chr19	15220560	15220560	+	Frame_Shift_Del	DEL	C	C	-																															caaagcctcccgcaccaagtCcccgggccccgccaggcgcc																										TCGA-EJ-7328-01A-31D-2114-08	TCGA-EJ-7328-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f4dae7e-36da-4014-a9df-9907ad1f7af8	fb1f3dbb-8353-4bfc-b0eb-5da03492262e	g.chr19:15220560delC	ENST00000342784.2	+	3	507	c.476delC	c.(475-477)tccfs	p.S159fs	SYDE1_ENST00000600440.1_Frame_Shift_Del_p.S92fs|SYDE1_ENST00000600252.1_5'UTR	NM_033025.4	NP_149014.3	Q6ZW31	SYDE1_HUMAN	synapse defective 1, Rho GTPase, homolog 1 (C. elegans)	159	Pro-rich.				activation of Rho GTPase activity (GO:0032862)|positive regulation of synaptic transmission (GO:0050806)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|synaptic vesicle docking involved in exocytosis (GO:0016081)|synaptonemal complex assembly (GO:0007130)	cerebellar mossy fiber (GO:0044300)|cytosol (GO:0005829)|synaptic membrane (GO:0097060)	Rho GTPase activator activity (GO:0005100)			endometrium(4)|kidney(1)|large_intestine(7)|lung(2)|ovary(1)|pancreas(1)|skin(1)	17						CGCACCAAGTCCCCGGGCCCC	0.706																																						ENST00000342784.2																			0				endometrium(4)|kidney(1)|large_intestine(7)|lung(2)|ovary(1)|pancreas(1)|skin(1)	17						c.(475-477)tcfs		synapse defective 1, Rho GTPase, homolog 1 (C. elegans)							3	3	3					19																	15220560		2002	3932	5934	SO:0001589	frameshift_variant	85360				activation of Rho GTPase activity|small GTPase mediated signal transduction	cytosol	Rho GTPase activator activity	g.chr19:15220560delC	BC029926	CCDS12324.1, CCDS74299.1	19p13.12	2008-02-05				ENSG00000105137			25824	protein-coding gene	gene with protein product						12477932	Standard	XM_005260126		Approved	7h3, FLJ13511	uc002nah.1	Q6ZW31		ENST00000342784.2:c.476delC	19.37:g.15220560delC	ENSP00000341489:p.Ser159fs					SYDE1_ENST00000600252.1_5'UTR|SYDE1_ENST00000600440.1_Frame_Shift_Del_p.S92fs	p.S159fs	NM_033025.4	NP_149014.3	Q6ZW31	SYDE1_HUMAN			3	507	+			159			Pro-rich.		Q7L2I8|Q8N6J2|Q9H8K4	Frame_Shift_Del	DEL	ENST00000342784.2	37	c.476delC	CCDS12324.1																																																																																				0.706	SYDE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465666.1	NM_033025		2	4						2	4	---	---	---	---	-	15220560	C	-	15220560	7	5	90	1	0	1	0	1	0	0	0	0	15432	855	30	0	486	0	SYDE1	19	15220560	Frame_Shift_Del	DEL	C	TCGA-EJ-7328-01A-31D-2114-08	2004234	15220560	43908423	44	4638											
ZNF681	148213	broad.mit.edu	37	chr19	23927307	23927307	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tctggtaaggtgtgaggactGgttaaaggctttgccacatt	9	13	13	6	0	1	1	0	1	1	0	1	2	1	2	1	5	1	3	1	5	3	4			TCGA-EJ-7328-01A-31D-2114-08	TCGA-EJ-7328-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f4dae7e-36da-4014-a9df-9907ad1f7af8	fb1f3dbb-8353-4bfc-b0eb-5da03492262e	g.chr19:23927307G>T	ENST00000402377.3	-	4	1186	c.1045C>A	c.(1045-1047)Cag>Aag	p.Q349K	ZNF681_ENST00000395385.3_Missense_Mutation_p.Q280K	NM_138286.2	NP_612143.2	Q96N22	ZN681_HUMAN	zinc finger protein 681	349					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(3)	21		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)				TGTGAGGACTGGTTAAAGGCT	0.433																																						ENST00000402377.3																			0				central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(3)	21						c.(1045-1047)Cag>Aag		zinc finger protein 681							83	86	85					19																	23927307		2203	4300	6503	SO:0001583	missense	148213				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:23927307G>T	AK056088	CCDS12414.2	19p12	2013-01-08			ENSG00000196172	ENSG00000196172		"Zinc fingers, C2H2-type", "-"	26457	protein-coding gene	gene with protein product	"hypothetical protein FLJ31526"						Standard	NM_138286		Approved	FLJ31526	uc002nrk.4	Q96N22	OTTHUMG00000150831	ENST00000402377.3:c.1045C>A	19.37:g.23927307G>T	ENSP00000384000:p.Gln349Lys					ZNF681_ENST00000395385.3_Missense_Mutation_p.Q280K	p.Q349K	NM_138286.2	NP_612143.2	Q96N22	ZN681_HUMAN			4	1186	-		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)	349					B3KVF7	Missense_Mutation	SNP	ENST00000402377.3	37	c.1045C>A	CCDS12414.2	.	.	.	.	.	.	.	.	.	.	.	2.396	-0.338635	0.05243	.	.	ENSG00000196172	ENST00000402377;ENST00000395385	T;T	0.07327	5.32;3.2	0.738	-1.48	0.08745	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.04272	0.0118	L	0.33792	1.035	0.09310	N	1	P	0.35872	0.525	B	0.23574	0.047	T	0.33752	-0.9856	9	0.35671	T	0.21	.	2.7116	0.05176	0.2276:0.0:0.5047:0.2676	.	349	Q96N22	ZN681_HUMAN	K	349;280	ENSP00000384000:Q349K;ENSP00000378783:Q280K	ENSP00000378783:Q280K	Q	-	1	0	ZNF681	23719147	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.081000	0.01367	-0.924000	0.03780	-0.518000	0.04402	CAG		0.433	ZNF681-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320248.2	NM_138286		3	97	1	0	0.00909568	1	0.00959181	3	97					T	23927307	G	T	23927307	3	4	90	1	0	0	0	0	1	0	0	0	18085	1357	47	5	896	5	ZNF681	19	23927307	Missense_Mutation	SNP	G	TCGA-EJ-7328-01A-31D-2114-08	8706747	23927307	35201676	45	4639											
ACPT	93650	broad.mit.edu	37	chr19	51297838	51297838	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gaatcccgccaaagatggagGgtgagaatggtttggtgccc	10	8	15	8	1	0	2	0	1	0	2	1	5	1	3	3	4	1	1	3	4	3	1			TCGA-EJ-7328-01A-31D-2114-08	TCGA-EJ-7328-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f4dae7e-36da-4014-a9df-9907ad1f7af8	fb1f3dbb-8353-4bfc-b0eb-5da03492262e	g.chr19:51297838G>A	ENST00000270593.1	+	9	986	c.986G>A	c.(985-987)gGg>gAg	p.G329E	CTD-2568A17.8_ENST00000594114.1_RNA|ACPT_ENST00000270594.3_Splice_Site_p.G236E	NM_033068.2	NP_149059.1	Q9BZG2	PPAT_HUMAN	acid phosphatase, testicular	329						integral component of membrane (GO:0016021)	acid phosphatase activity (GO:0003993)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|skin(3)	11		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028)		AAAGATGGAGGGTGAGAATGG	0.612																																						ENST00000270593.1																			0				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|skin(3)	11						c.e9+1		acid phosphatase, testicular							39	39	39					19																	51297838		2203	4300	6503	SO:0001630	splice_region_variant	93650					integral to membrane	acid phosphatase activity	g.chr19:51297838G>A	AF321918	CCDS12802.1	19q13.33	2012-10-02			ENSG00000142513	ENSG00000142513			14376	protein-coding gene	gene with protein product		606362				11414767	Standard	NM_033068		Approved		uc002pta.1	Q9BZG2		ENST00000270593.1:c.986+1G>A	19.37:g.51297838G>A						ACPT_ENST00000270594.3_Splice_Site_p.G236_splice	p.G329_splice	NM_033068.2	NP_149059.1	Q9BZG2	PPAT_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028)	9	986	+		all_neural(266;0.057)	329					C0H3P7|Q9BZG3|Q9BZG4	Splice_Site	SNP	ENST00000270593.1	37	c.986_splice	CCDS12802.1	.	.	.	.	.	.	.	.	.	.	g	13.89	2.371379	0.42003	.	.	ENSG00000142513	ENST00000270593;ENST00000270594	T;T	0.78126	2.21;-1.15	3.9	1.75	0.24633	.	0.000000	0.64402	D	0.000001	T	0.68696	0.3029	L	0.45581	1.43	0.31455	N	0.67027	B	0.18968	0.032	B	0.26202	0.067	T	0.69639	-0.5091	10	0.87932	D	0	-23.9614	7.2699	0.26250	0.2391:0.0:0.7609:0.0	.	329	Q9BZG2	PPAT_HUMAN	E	329;236	ENSP00000270593:G329E;ENSP00000270594:G236E	ENSP00000270593:G329E	G	+	2	0	ACPT	55989650	1.000000	0.71417	0.991000	0.47740	0.137000	0.21094	2.697000	0.47060	0.983000	0.38602	0.561000	0.74099	GGG		0.612	ACPT-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464434.1	NM_033068	Missense_Mutation	4	35	0	0	0	1	0	4	35					A	51297838	G	A	51297838	5	1	90	1	0	0	0	0	0	0	1	0	168	1246	43	3	1020	3	ACPT	19	51297838	Splice_Site	SNP	G	TCGA-EJ-7328-01A-31D-2114-08	27370531	51297838	7831145	46	4640											
LILRB5	10990	broad.mit.edu	37	chr19	54756362	54756362	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gaattacctcttctgcaggcCctggtccttgggctctggcc	4	12	11	14	0	3	0	0	0	3	0	4	1	4	0	4	4	2	2	4	4	2	3			TCGA-EJ-7328-01A-31D-2114-08	TCGA-EJ-7328-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f4dae7e-36da-4014-a9df-9907ad1f7af8	fb1f3dbb-8353-4bfc-b0eb-5da03492262e	g.chr19:54756362C>T	ENST00000316219.5	-	10	1629	c.1522G>A	c.(1522-1524)Ggc>Agc	p.G508S	LILRB5_ENST00000450632.1_Missense_Mutation_p.G500S|CTD-2337J16.1_ENST00000595133.1_lincRNA|LILRB5_ENST00000345866.6_Missense_Mutation_p.G409S|LILRB5_ENST00000449561.2_Missense_Mutation_p.G509S	NM_001081442.1|NM_006840.3	NP_001074911.1|NP_006831.1	O75023	LIRB5_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5	508					cell surface receptor signaling pathway (GO:0007166)|defense response (GO:0006952)|immune system process (GO:0002376)	integral component of membrane (GO:0016021)	transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		TTCTGCAGGCCCTGGTCCTTG	0.627																																						ENST00000450632.1																			0				NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	56						c.(1498-1500)Ggc>Agc		leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5							120	112	114					19																	54756362		2203	4300	6503	SO:0001583	missense	0				cell surface receptor linked signaling pathway|defense response	integral to membrane	transmembrane receptor activity	g.chr19:54756362C>T	AF025534	CCDS12885.1, CCDS42611.1, CCDS46176.1	19q13.4	2013-01-11			ENSG00000105609	ENSG00000105609		"Leukocyte immunoglobulin-like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6609	protein-coding gene	gene with protein product		604814				9548455	Standard	NM_006840		Approved	LIR-8, LIR8, CD85c	uc002qey.3	O75023	OTTHUMG00000066636	ENST00000316219.5:c.1522G>A	19.37:g.54756362C>T	ENSP00000320390:p.Gly508Ser					LILRB5_ENST00000449561.2_Missense_Mutation_p.G509S|LILRB5_ENST00000345866.6_Missense_Mutation_p.G409S|LILRB5_ENST00000316219.5_Missense_Mutation_p.G508S	p.G500S			O75023	LIRB5_HUMAN		GBM - Glioblastoma multiforme(193;0.105)	10	1575	-	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)		508					Q8N760	Missense_Mutation	SNP	ENST00000316219.5	37	c.1498G>A	CCDS12885.1	.	.	.	.	.	.	.	.	.	.	C	11.74	1.727693	0.30593	.	.	ENSG00000105609	ENST00000316219;ENST00000450632;ENST00000449561;ENST00000345866	T;T;T;T	0.00475	7.24;7.16;7.23;7.2	2.08	0.986	0.19784	.	.	.	.	.	T	0.00440	0.0014	M	0.68317	2.08	0.09310	N	1	B;B;B;B	0.31274	0.256;0.317;0.012;0.011	B;B;B;B	0.28232	0.062;0.087;0.007;0.004	T	0.42258	-0.9462	9	0.62326	D	0.03	.	3.9515	0.09371	0.0:0.7554:0.0:0.2446	.	500;409;509;508	C9JMK7;O75023-2;O75023-3;O75023	.;.;.;LIRB5_HUMAN	S	508;500;509;409	ENSP00000320390:G508S;ENSP00000414225:G500S;ENSP00000406478:G509S;ENSP00000263430:G409S	ENSP00000320390:G508S	G	-	1	0	LILRB5	59448174	0.080000	0.21391	0.002000	0.10522	0.001000	0.01503	0.479000	0.22228	0.373000	0.24621	0.585000	0.79938	GGC		0.627	LILRB5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000142877.2			27	89	0	0	0	1	0	27	89					T	54756362	C	T	54756362	3	4	90	1	0	0	0	0	1	0	0	0	8794	623	22	3	266	3	LILRB5	19	54756362	Missense_Mutation	SNP	C	TCGA-EJ-7328-01A-31D-2114-08	3458524	54756362	4372621	47	4641											
P2RX6	9127	broad.mit.edu	37	chr22	21380547	21380547	+	Frame_Shift_Del	DEL	T	T	-																															cctgcctctcccaggtcaccTttttctgtgacctgctactg																										TCGA-EJ-7328-01A-31D-2114-08	TCGA-EJ-7328-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f4dae7e-36da-4014-a9df-9907ad1f7af8	fb1f3dbb-8353-4bfc-b0eb-5da03492262e	g.chr22:21380547delT	ENST00000413302.2	+	11	1205	c.1057delT	c.(1057-1059)tttfs	p.F354fs	P2RX6_ENST00000336296.2_Frame_Shift_Del_p.F344fs|P2RX6_ENST00000443995.3_Frame_Shift_Del_p.F301fs|P2RX6_ENST00000401443.1_Frame_Shift_Del_p.F328fs|P2RX6_ENST00000402329.3_3'UTR			O15547	P2RX6_HUMAN	purinergic receptor P2X, ligand-gated ion channel, 6	354					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|muscle contraction (GO:0006936)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|purinergic nucleotide receptor signaling pathway (GO:0035590)|signal transduction (GO:0007165)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|integral component of nuclear inner membrane (GO:0005639)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|postsynaptic density (GO:0014069)	ATP binding (GO:0005524)|channel activity (GO:0015267)|extracellular ATP-gated cation channel activity (GO:0004931)|identical protein binding (GO:0042802)|purinergic nucleotide receptor activity (GO:0001614)|transmembrane signaling receptor activity (GO:0004888)										CCAGGTCACCTTTTTCTGTGA	0.587																																						ENST00000413302.2																			0											c.(1057-1059)ttfs		purinergic receptor P2X, ligand-gated ion channel, 6							44	40	41					22																	21380547		2202	4296	6498	SO:0001589	frameshift_variant	9127				muscle contraction|protein homooligomerization	cell junction|cytoplasm|integral to plasma membrane	ATP binding|extracellular ATP-gated cation channel activity|identical protein binding|purinergic nucleotide receptor activity	g.chr22:21380547delT		CCDS13788.2, CCDS54504.1	22q11.21	2012-01-17	2008-03-28	2008-03-28	ENSG00000099957	ENSG00000099957		"Purinergic receptors", "Ligand-gated ion channels / Purinergic receptors, ionotropic"	8538	protein-coding gene	gene with protein product		608077	"purinergic receptor P2X-like 1, orphan receptor"	P2RXL1		9242461, 10591208, 8786426	Standard	NM_005446		Approved	P2XM, MGC129625, P2X6	uc010gsu.1	O15547	OTTHUMG00000150689	ENST00000413302.2:c.1057delT	22.37:g.21380547delT	ENSP00000416193:p.Phe354fs					P2RX6_ENST00000443995.3_Frame_Shift_Del_p.F301fs|P2RX6_ENST00000336296.2_Frame_Shift_Del_p.F344fs|P2RX6_ENST00000401443.1_Frame_Shift_Del_p.F328fs|P2RX6_ENST00000402329.3_3'UTR	p.F354fs			O15547	P2RX6_HUMAN			11	1205	+			354					F6V3D7|Q32MB6|Q58F04|Q6IC33|Q9UL50	Frame_Shift_Del	DEL	ENST00000413302.2	37	c.1057delT	CCDS13788.2																																																																																				0.587	P2RX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319625.2	NM_005446		2	4						2	4	---	---	---	---	-	21380547	T	-	21380547	7	5	90	1	0	1	0	1	0	0	0	0	11344	1609	56	0	1099	0	P2RX6	22	21380547	Frame_Shift_Del	DEL	T	TCGA-EJ-7328-01A-31D-2114-08		21380547	29924019	48	4642											
ACRC	93953	broad.mit.edu	37	chrX	70828895	70828895	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aagaaatactctggaaaaaaTttaaagcgaaataaggatga	22	8	8	3	1	1	2	0	1	1	1	1	5	1	4	0	2	2	0	0	2	10	4			TCGA-EJ-7328-01A-31D-2114-08	TCGA-EJ-7328-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f4dae7e-36da-4014-a9df-9907ad1f7af8	fb1f3dbb-8353-4bfc-b0eb-5da03492262e	g.chrX:70828895T>A	ENST00000373695.1	+	9	2076	c.1539T>A	c.(1537-1539)aaT>aaA	p.N513K	ACRC_ENST00000373696.3_Missense_Mutation_p.N513K			Q96QF7	ACRC_HUMAN	acidic repeat containing	513	Arg/Lys/Pro-rich.					nucleus (GO:0005634)				autonomic_ganglia(1)|breast(1)|endometrium(15)|kidney(4)|large_intestine(4)|lung(20)|ovary(5)|prostate(1)|skin(2)|stomach(1)	54	Renal(35;0.156)					CTGGAAAAAATTTAAAGCGAA	0.363																																						ENST00000373695.1																			0				autonomic_ganglia(1)|breast(1)|endometrium(15)|kidney(4)|large_intestine(4)|lung(20)|ovary(5)|prostate(1)|skin(2)|stomach(1)	54						c.(1537-1539)aaT>aaA		acidic repeat containing							58	52	54					X																	70828895		2203	4300	6503	SO:0001583	missense	93953					nucleus		g.chrX:70828895T>A	AJ311392	CCDS35326.1	Xq13.1	2010-08-05			ENSG00000147174	ENSG00000147174			15805	protein-coding gene	gene with protein product		300369					Standard	NM_052957		Approved		uc004eae.2	Q96QF7	OTTHUMG00000033327	ENST00000373695.1:c.1539T>A	X.37:g.70828895T>A	ENSP00000362799:p.Asn513Lys					ACRC_ENST00000373696.3_Missense_Mutation_p.N513K	p.N513K			Q96QF7	ACRC_HUMAN			9	2076	+	Renal(35;0.156)		513			Arg/Lys/Pro-rich.		B9EG62	Missense_Mutation	SNP	ENST00000373695.1	37	c.1539T>A	CCDS35326.1	.	.	.	.	.	.	.	.	.	.	t	9.406	1.079303	0.20227	.	.	ENSG00000147174	ENST00000373696;ENST00000373695	T;T	0.30182	1.54;1.54	4.83	-9.65	0.00537	.	.	.	.	.	T	0.17450	0.0419	L	0.35723	1.085	0.09310	N	1	B	0.22683	0.073	B	0.26094	0.066	T	0.13229	-1.0517	9	0.32370	T	0.25	.	4.9482	0.14000	0.3324:0.0771:0.4694:0.1211	.	513	Q96QF7	ACRC_HUMAN	K	513	ENSP00000362800:N513K;ENSP00000362799:N513K	ENSP00000362799:N513K	N	+	3	2	ACRC	70745620	0.039000	0.19947	0.000000	0.03702	0.000000	0.00434	-1.808000	0.01732	-3.330000	0.00186	-2.299000	0.00261	AAT		0.363	ACRC-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081856.1			12	15	0	0	0	1	0	12	15					A	70828895	T	A	70828895	3	1	90	1	0	0	0	0	1	0	0	0	171	1490	52	5	1573	5	ACRC	23	70828895	Missense_Mutation	SNP	T	TCGA-EJ-7328-01A-31D-2114-08		70828895	84441665	49	4643											
ATG4A	115201	broad.mit.edu	37	chrX	107396937	107396937	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagattttgagattctgagtGtgtagaatcctgggaactca	12	13	11	5	0	2	4	1	2	1	3	3	6	3	5	1	1	1	1	1	1	4	4			TCGA-EJ-7328-01A-31D-2114-08	TCGA-EJ-7328-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f4dae7e-36da-4014-a9df-9907ad1f7af8	fb1f3dbb-8353-4bfc-b0eb-5da03492262e	g.chrX:107396937G>A	ENST00000372232.3	+	13	1351	c.1192G>A	c.(1192-1194)Gtg>Atg	p.V398M	ATG4A_ENST00000545696.1_Missense_Mutation_p.V259M|ATG4A_ENST00000489247.1_3'UTR|COL4A6_ENST00000418180.1_Intron|ATG4A_ENST00000345734.3_Missense_Mutation_p.V336M|ATG4A_ENST00000372254.3_Missense_Mutation_p.V374M	NM_052936.3	NP_443168.2	Q8WYN0	ATG4A_HUMAN	autophagy related 4A, cysteine peptidase	398					autophagy (GO:0006914)|protein transport (GO:0015031)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)	cysteine-type peptidase activity (GO:0008234)			endometrium(3)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)	11						GATTCTGAGTGTGTAGAATCC	0.393																																						ENST00000372232.3																			0				endometrium(3)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)	11						c.(1192-1194)Gtg>Atg		autophagy related 4A, cysteine peptidase							148	140	143					X																	107396937		2203	4300	6503	SO:0001583	missense	115201				autophagy|protein transport|proteolysis	cytoplasm	cysteine-type peptidase activity	g.chrX:107396937G>A	AJ320508	CCDS14538.1, CCDS14539.1	Xq22.1-q22.3	2014-02-12	2012-06-06	2005-09-11	ENSG00000101844	ENSG00000101844			16489	protein-coding gene	gene with protein product		300663	"AUT-like 2, cysteine endopeptidase (S. cerevisiae)", "APG4 autophagy 4 homolog A (S. cerevisiae)", "ATG4 autophagy related 4 homolog A (S. cerevisiae)"	AUTL2, APG4A		12446702, 12473658	Standard	NM_052936		Approved		uc004enr.3	Q8WYN0	OTTHUMG00000022176	ENST00000372232.3:c.1192G>A	X.37:g.107396937G>A	ENSP00000361306:p.Val398Met					ATG4A_ENST00000545696.1_Missense_Mutation_p.V259M|ATG4A_ENST00000489247.1_3'UTR|ATG4A_ENST00000372254.3_Missense_Mutation_p.V374M|COL4A6_ENST00000418180.1_Intron|ATG4A_ENST00000345734.3_Missense_Mutation_p.V336M	p.V398M	NM_052936.3	NP_443168.2	Q8WYN0	ATG4A_HUMAN			13	1351	+			398					A6NCH2|B2RAZ7|D3DUY0|O95534|Q5JYY9|Q5JYZ0|Q86VE5|Q96KQ0|Q96KQ1	Missense_Mutation	SNP	ENST00000372232.3	37	c.1192G>A	CCDS14538.1	.	.	.	.	.	.	.	.	.	.	G	11.49	1.655520	0.29425	.	.	ENSG00000101844	ENST00000372232;ENST00000345734;ENST00000372254;ENST00000545696	T;T;T;T	0.51325	0.71;0.71;0.73;0.73	6.08	1.61	0.23674	.	0.275715	0.34652	N	0.003797	T	0.29652	0.0740	N	0.12182	0.205	0.29053	N	0.884376	B;B;B	0.25441	0.126;0.126;0.014	B;B;B	0.30646	0.118;0.118;0.014	T	0.22312	-1.0220	10	0.39692	T	0.17	-3.027	11.4259	0.50009	0.29:0.0:0.71:0.0	.	259;336;398	F5H3G3;Q8WYN0-2;Q8WYN0	.;.;ATG4A_HUMAN	M	398;336;374;259	ENSP00000361306:V398M;ENSP00000298131:V336M;ENSP00000361328:V374M;ENSP00000438936:V259M	ENSP00000298131:V336M	V	+	1	0	ATG4A	107283593	0.997000	0.39634	0.051000	0.19133	0.960000	0.62799	1.883000	0.39658	0.229000	0.21039	0.600000	0.82982	GTG		0.393	ATG4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057860.1	NM_052936		6	69	0	0	0	1	0	6	69					A	107396937	G	A	107396937	3	1	90	1	0	0	0	0	1	0	0	0	1096	1377	48	3	1242	3	ATG4A	23	107396937	Missense_Mutation	SNP	G	TCGA-EJ-7328-01A-31D-2114-08	36568042	107396937	47873623	50	4644											
PASD1	139135	broad.mit.edu	37	chrX	150832695	150832695	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atcaggtggactcagtggacCaggagggcccaatggaccag	11	5	15	10	0	2	0	2	0	0	0	2	4	2	4	3	6	0	0	3	6	1	0			TCGA-EJ-7328-01A-31D-2114-08	TCGA-EJ-7328-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f4dae7e-36da-4014-a9df-9907ad1f7af8	fb1f3dbb-8353-4bfc-b0eb-5da03492262e	g.chrX:150832695C>G	ENST00000370357.4	+	11	1191	c.946C>G	c.(946-948)Cag>Gag	p.Q316E		NM_173493.2	NP_775764.2	Q8IV76	PASD1_HUMAN	PAS domain containing 1	316						nucleus (GO:0005634)	signal transducer activity (GO:0004871)			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48	Acute lymphoblastic leukemia(192;6.56e-05)					CTCAGTGGACCAGGAGGGCCC	0.587																																						ENST00000370357.4																			0				breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48						c.(946-948)Cag>Gag		PAS domain containing 1							106	90	96					X																	150832695		2203	4300	6503	SO:0001583	missense	139135					nucleus	signal transducer activity	g.chrX:150832695C>G	AY270020	CCDS35431.1	Xq28	2009-08-06			ENSG00000166049	ENSG00000166049			20686	protein-coding gene	gene with protein product	"cancer/testis antigen 63"					15122589, 15162151	Standard	NM_173493		Approved	CT63	uc004fev.4	Q8IV76	OTTHUMG00000024169	ENST00000370357.4:c.946C>G	X.37:g.150832695C>G	ENSP00000359382:p.Gln316Glu						p.Q316E	NM_173493.2	NP_775764.2	Q8IV76	PASD1_HUMAN			11	1191	+	Acute lymphoblastic leukemia(192;6.56e-05)		316					Q3MNE0|Q69HD7|Q8N7X9	Missense_Mutation	SNP	ENST00000370357.4	37	c.946C>G	CCDS35431.1	.	.	.	.	.	.	.	.	.	.	C	8.667	0.901908	0.17760	.	.	ENSG00000166049	ENST00000370357	T	0.68479	-0.33	3.04	-3.68	0.04463	.	.	.	.	.	T	0.41351	0.1155	N	0.24115	0.695	0.09310	N	1	B	0.16396	0.017	B	0.12837	0.008	T	0.17258	-1.0375	9	0.21540	T	0.41	.	1.5897	0.02651	0.1254:0.3453:0.1699:0.3595	.	316	Q8IV76	PASD1_HUMAN	E	316	ENSP00000359382:Q316E	ENSP00000359382:Q316E	Q	+	1	0	PASD1	150583351	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.406000	0.02490	-1.294000	0.02360	-0.312000	0.09012	CAG		0.587	PASD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060879.2	NM_173493		21	45	0	0	0	1	0	21	45					G	150832695	C	G	150832695	3	3	90	1	0	0	0	0	1	0	0	0	11471	595	21	5	984	5	PASD1	23	150832695	Missense_Mutation	SNP	C	TCGA-EJ-7328-01A-31D-2114-08	43435758	150832695	4437865	51	4645											
ENO1	2023	broad.mit.edu	37	chr1	8923006	8923006	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aaggggcaccagtcttgatcTaggagaaaagaaaggccatt	15	7	12	7	0	2	3	0	1	2	2	2	4	2	3	2	4	0	1	2	4	5	3			TCGA-EJ-7330-01A-11D-2114-08	TCGA-EJ-7330-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	478b235e-7e7f-4dbb-810b-44a50240b359	30f84a45-9998-47d3-87da-030f357d928e	g.chr1:8923006T>C	ENST00000234590.4	-	11	1296		c.e11-2			NM_001428.3	NP_001419.1	P06733	ENOA_HUMAN	enolase 1, (alpha)						carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|negative regulation of cell growth (GO:0030308)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|response to virus (GO:0009615)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|phosphopyruvate hydratase complex (GO:0000015)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|magnesium ion binding (GO:0000287)|phosphopyruvate hydratase activity (GO:0004634)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	10	Ovarian(185;0.0661)|all_lung(157;0.127)	all_epithelial(116;2.54e-20)|all_lung(118;2.99e-06)|Lung NSC(185;6.25e-06)|Renal(390;0.000147)|Breast(348;0.00086)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;2.42e-07)|COAD - Colon adenocarcinoma(227;2.78e-05)|Kidney(185;0.000249)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.00177)|BRCA - Breast invasive adenocarcinoma(304;0.00185)|READ - Rectum adenocarcinoma(331;0.0642)		AGTCTTGATCTAGGAGAAAAG	0.532											OREG0013068	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									Esophageal Squamous(21;302 608 19946 22210 33560)	ENST00000234590.4																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	10						c.e11-2		enolase 1, (alpha)							65	60	62					1																	8923006		2203	4300	6503	SO:0001630	splice_region_variant	2023				gluconeogenesis|glycolysis|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|response to virus	phosphopyruvate hydratase complex|plasma membrane|sarcomere	DNA binding|magnesium ion binding|phosphopyruvate hydratase activity|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr1:8923006T>C	BC022545	CCDS97.1	1p36.2	2010-03-11			ENSG00000074800	ENSG00000074800	4.2.1.11		3350	protein-coding gene	gene with protein product		172430		ENO1L1, MPB1		9653645, 9691177	Standard	NM_001428		Approved	PPH, MBP-1	uc001apj.2	P06733	OTTHUMG00000001773	ENST00000234590.4:c.1177-2A>G	1.37:g.8923006T>C			OREG0013068	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	653			NM_001428.3	NP_001419.1	P06733	ENOA_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;2.42e-07)|COAD - Colon adenocarcinoma(227;2.78e-05)|Kidney(185;0.000249)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.00177)|BRCA - Breast invasive adenocarcinoma(304;0.00185)|READ - Rectum adenocarcinoma(331;0.0642)	11	1296	-	Ovarian(185;0.0661)|all_lung(157;0.127)	all_epithelial(116;2.54e-20)|all_lung(118;2.99e-06)|Lung NSC(185;6.25e-06)|Renal(390;0.000147)|Breast(348;0.00086)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)						B2RD59|P22712|Q16704|Q4TUS4|Q53FT9|Q53HR3|Q658M5|Q6GMP2|Q71V37|Q7Z3V6|Q8WU71|Q96GV1|Q9BT62|Q9UCH6|Q9UM55	Splice_Site	SNP	ENST00000234590.4	37		CCDS97.1	.	.	.	.	.	.	.	.	.	.	T	15.72	2.917501	0.52546	.	.	ENSG00000074800	ENST00000234590	.	.	.	5.06	5.06	0.68205	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.1521	0.65392	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	ENO1	8845593	1.000000	0.71417	0.940000	0.37924	0.569000	0.35902	7.866000	0.87056	2.135000	0.66039	0.459000	0.35465	.		0.532	ENO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004945.1	NM_001428	Intron	3	29	0	0	0	1	0	3	29					C	8923006	T	C	8923006	5	2	91	1	0	0	0	0	0	0	1	0	5121	1536	53	4	137	4	ENO1	1	8923006	Splice_Site	SNP	T	TCGA-EJ-7330-01A-11D-2114-08		8923006	240327615	1	4646											
CLCNKB	1188	broad.mit.edu	37	chr1	16378219	16378219	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggccaggagctgctatcgggCgcctctttggggagactctc	5	9	15	12	2	2	1	0	0	2	1	4	3	2	2	2	5	2	2	2	5	1	2	rs121909133		TCGA-EJ-7330-01A-11D-2114-08	TCGA-EJ-7330-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	478b235e-7e7f-4dbb-810b-44a50240b359	30f84a45-9998-47d3-87da-030f357d928e	g.chr1:16378219C>T	ENST00000375679.4	+	14	1423	c.1312C>T	c.(1312-1314)Cgc>Tgc	p.R438C	CLCNKB_ENST00000375667.3_Missense_Mutation_p.R269C	NM_000085.4	NP_000076.2	P51801	CLCKB_HUMAN	chloride channel, voltage-sensitive Kb	438			R -> C (in BS3). {ECO:0000269|PubMed:9326936}.		excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|regulation of anion transport (GO:0044070)|transmembrane transport (GO:0055085)|transport (GO:0006810)	chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	adenyl nucleotide binding (GO:0030554)|metal ion binding (GO:0046872)|voltage-gated chloride channel activity (GO:0005247)	p.R438C(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|skin(6)|stomach(2)|urinary_tract(1)	21		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)		TGCTATCGGGCGCCTCTTTGG	0.617																																						ENST00000375679.4																			1	Substitution - Missense(1)	p.R438C(1)	central_nervous_system(1)	breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|skin(6)|stomach(2)|urinary_tract(1)	21	GRCh37	CM970324	CLCNKB	M	rs121909133	c.(1312-1314)Cgc>Tgc		chloride channel, voltage-sensitive Kb							89	91	90					1																	16378219		2203	4300	6503	SO:0001583	missense	1188							g.chr1:16378219C>T	AK098217	CCDS168.1, CCDS57974.1	1p36	2012-09-26	2012-02-23		ENSG00000184908	ENSG00000184908		"Ion channels / Chloride channels : Voltage-sensitive"	2027	protein-coding gene	gene with protein product		602023	"chloride channel Kb"				Standard	NM_000085		Approved	hClC-Kb		P51801	OTTHUMG00000009530	ENST00000375679.4:c.1312C>T	1.37:g.16378219C>T	ENSP00000364831:p.Arg438Cys					CLCNKB_ENST00000375667.3_Missense_Mutation_p.R269C	p.R438C	NM_000085.4	NP_000076.2				UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)	14	1423	+		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)						B3KUY3|Q5T5Q7|Q5T5Q8	Missense_Mutation	SNP	ENST00000375679.4	37	c.1312C>T	CCDS168.1	.	.	.	.	.	.	.	.	.	.	c	17.58	3.423818	0.62733	.	.	ENSG00000184908	ENST00000375679;ENST00000331579;ENST00000375667	D;D	0.95205	-3.64;-3.64	4.05	4.05	0.47172	Chloride channel, core (2);	0.000000	0.85682	D	0.000000	D	0.97776	0.9270	H	0.96048	3.76	0.80722	A	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.99917	1.1229	9	0.87932	D	0	.	9.5113	0.39078	0.211:0.789:0.0:0.0	.	269;438	Q5T5Q7;P51801	.;CLCKB_HUMAN	C	438;310;269	ENSP00000364831:R438C;ENSP00000364819:R269C	ENSP00000332055:R310C	R	+	1	0	CLCNKB	16250806	1.000000	0.71417	1.000000	0.80357	0.863000	0.49368	3.606000	0.54095	1.964000	0.57103	0.455000	0.32223	CGC		0.617	CLCNKB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026331.1	NM_000085		9	260	0	0	0	1	0	9	260					T	16378219	C	T	16378219	3	4	91	1	0	0	0	0	1	0	0	0	3470	768	27	1	1510	1	CLCNKB	1	16378219	Missense_Mutation	SNP	C	TCGA-EJ-7330-01A-11D-2114-08	7455213	16378219	232872402	2	4647											
CELA3A	10136	broad.mit.edu	37	chr1	22332001	22332001	+	Frame_Shift_Del	DEL	C	C	-																															gtgtggcggtagcctcatcgCccccgattgggttgtgactg																										TCGA-EJ-7330-01A-11D-2114-08	TCGA-EJ-7330-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	478b235e-7e7f-4dbb-810b-44a50240b359	30f84a45-9998-47d3-87da-030f357d928e	g.chr1:22332001delC	ENST00000290122.3	+	3	210	c.191delC	c.(190-192)gccfs	p.A64fs	RN7SL768P_ENST00000584415.1_RNA|CELA3A_ENST00000374663.1_Frame_Shift_Del_p.A64fs	NM_005747.4	NP_005738.4	P09093	CEL3A_HUMAN	chymotrypsin-like elastase family, member 3A	64	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				cholesterol metabolic process (GO:0008203)|digestion (GO:0007586)|proteolysis (GO:0006508)		serine-type endopeptidase activity (GO:0004252)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						AGCCTCATCGCCCCCGATTGG	0.627											OREG0013211	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000290122.3																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						c.(190-192)gcfs		chymotrypsin-like elastase family, member 3A							82	96	92					1																	22332001		2197	4300	6497	SO:0001589	frameshift_variant	10136							g.chr1:22332001delC	D00306	CCDS220.1	1p36.12	2009-05-05	2009-05-05	2009-05-05	ENSG00000142789	ENSG00000142789			15944	protein-coding gene	gene with protein product	"protease E"		"elastase 3A, pancreatic (protease E)", "elastase 3A, pancreatic"	ELA3A		2826474, 2460440	Standard	NM_005747		Approved	ELA3		P09093	OTTHUMG00000002755	ENST00000290122.3:c.191delC	1.37:g.22332001delC	ENSP00000290122:p.Ala64fs		OREG0013211	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	755	CELA3A_ENST00000374663.1_Frame_Shift_Del_p.A64fs	p.A64fs	NM_005747.4	NP_005738.4					3	210	+								B1AQ53|Q9BRW4	Frame_Shift_Del	DEL	ENST00000290122.3	37	c.191delC	CCDS220.1																																																																																				0.627	CELA3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007791.1	NM_005747		8	207						8	207	---	---	---	---	-	22332001	C	-	22332001	7	5	91	1	0	1	0	1	0	0	0	0	3213	739	26	0	201	0	CELA3A	1	22332001	Frame_Shift_Del	DEL	C	TCGA-EJ-7330-01A-11D-2114-08	5953782	22332001	226918620	3	4648											
ARID1A	8289	broad.mit.edu	37	chr1	27023376	27023377	+	In_Frame_Ins	INS	-	-	CGC																															ggccggagcccgtctgccgtINScgccgccgccgcggccgccg																										TCGA-EJ-7330-01A-11D-2114-08	TCGA-EJ-7330-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	478b235e-7e7f-4dbb-810b-44a50240b359	d2a35e27-301b-4cd6-8246-bd0ac6c2e023	g.chr1:27023376_27023377insCGC	ENST00000324856.7	+	1	853_854	c.482_483insCGC	c.(481-486)gtcgcc>gtCGCcgcc	p.167_168insA	ARID1A_ENST00000457599.2_In_Frame_Ins_p.167_168insA|RP5-968P14.2_ENST00000569378.1_RNA	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	167					androgen receptor signaling pathway (GO:0030521)|ATP-dependent chromatin remodeling (GO:0043044)|cardiac chamber development (GO:0003205)|chromatin remodeling (GO:0006338)|chromatin-mediated maintenance of transcription (GO:0048096)|forebrain development (GO:0030900)|glucocorticoid receptor signaling pathway (GO:0042921)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|nucleosome disassembly (GO:0006337)|nucleosome mobilization (GO:0042766)|optic cup formation involved in camera-type eye development (GO:0003408)|placenta blood vessel development (GO:0060674)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|transcription coactivator activity (GO:0003713)	p.P158fs*236(1)	ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		CCGTCTGCCGTCGCCGCCGCCG	0.752			"Mis, N, F, S, D"		"clear cell ovarian carcinoma, RCC"																																	ENST00000324856.7				Rec	yes		1	1p35.3	8289	"Mis, N, F, S, D"	AT rich interactive domain 1A (SWI-like)			E			"clear cell ovarian carcinoma, RCC"	ARID1A/MAST2_ENST00000361297(2)	1	Deletion - Frameshift(1)	p.P158fs*236(1)	ovary(1)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411						c.(481-483)ggc>gCGCgc		AT rich interactive domain 1A (SWI-like)																																				SO:0001652	inframe_insertion	8289				androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding	g.chr1:27023376_27023377insCGC	AB001895	CCDS285.1, CCDS44091.1	1p36.1-p35	2014-09-17	2006-11-08	2004-01-30	ENSG00000117713	ENSG00000117713		"-"	11110	protein-coding gene	gene with protein product		603024	"SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily f, member 1", "AT rich interactive domain 1A (SWI- like)"	C1orf4, SMARCF1		9630625, 9434167	Standard	NM_139135		Approved	B120, P270, C10rf4, BAF250, BAF250a	uc001bmv.1	O14497	OTTHUMG00000004004	ENST00000324856.7:c.492_494dupCGC	1.37:g.27023383_27023385dupCGC	ENSP00000320485:p.Ala167_Ala167dup					ARID1A_ENST00000457599.2_In_Frame_Ins_p.161_161G>AR	p.161_161G>AR	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)	1	853_854	+		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	161					D3DPL1|Q53FK9|Q5T0W1|Q5T0W2|Q5T0W3|Q8NFD6|Q96T89|Q9BY33|Q9HBJ5|Q9UPZ1	In_Frame_Ins	INS	ENST00000324856.7	37	c.482_483insCGC	CCDS285.1																																																																																				0.752	ARID1A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000011437.2	NM_139135		5	5						5	5	---	---	---	---	CGC	27023377	-	CGC	27023376	7	5	91	1	0	1	1	0	0	0	0	0	913	1667	58	0	484	0	ARID1A	1	27023376	In_Frame_Ins	INS	-	TCGA-EJ-7330-01A-11D-2114-08	4691375	27023376	222227245	4	4649											
KIFAP3	22920	broad.mit.edu	37	chr1	169953739	169953739	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgaccttcacagataagctgTacatttcttttgttagcagc	10	15	7	9	0	2	2	1	1	1	1	2	2	2	2	1	0	4	4	1	0	3	7			TCGA-EJ-7330-01A-11D-2114-08	TCGA-EJ-7330-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	478b235e-7e7f-4dbb-810b-44a50240b359	30f84a45-9998-47d3-87da-030f357d928e	g.chr1:169953739T>C	ENST00000361580.2	-	12	1604	c.1377A>G	c.(1375-1377)gtA>gtG	p.V459V	KIFAP3_ENST00000367765.1_Silent_p.V419V|KIFAP3_ENST00000538366.1_Silent_p.V381V|KIFAP3_ENST00000540905.1_Silent_p.V161V|KIFAP3_ENST00000367767.1_Silent_p.V415V	NM_014970.3	NP_055785.2	Q92845	KIFA3_HUMAN	kinesin-associated protein 3	459					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|blood coagulation (GO:0007596)|membrane organization (GO:0061024)|microtubule-based movement (GO:0007018)|microtubule-based process (GO:0007017)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|plus-end-directed vesicle transport along microtubule (GO:0072383)|positive regulation of calcium-dependent cell-cell adhesion (GO:0046587)|protein complex assembly (GO:0006461)|protein localization (GO:0008104)|signal transduction (GO:0007165)	centrosome (GO:0005813)|condensed nuclear chromosome (GO:0000794)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|intraciliary transport particle (GO:0030990)|kinesin II complex (GO:0016939)|microtubule cytoskeleton (GO:0015630)	kinesin binding (GO:0019894)			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(18)|prostate(2)|skin(3)|urinary_tract(2)	35	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					AGATAAGCTGTACATTTCTTT	0.328																																						ENST00000367765.1																			0				endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(18)|prostate(2)|skin(3)|urinary_tract(2)	35						c.(1255-1257)gtA>gtG		kinesin-associated protein 3							95	88	90					1																	169953739		2203	4300	6503	SO:0001819	synonymous_variant	22920				blood coagulation|plus-end-directed vesicle transport along microtubule|protein complex assembly|signal transduction	centrosome|condensed nuclear chromosome|cytosol|endoplasmic reticulum|kinesin II complex|spindle microtubule	kinesin binding	g.chr1:169953739T>C	U59919	CCDS1288.1, CCDS55659.1, CCDS55660.1, CCDS55661.1	1q24.2	2012-09-20			ENSG00000075945	ENSG00000075945			17060	protein-coding gene	gene with protein product	"Smg GDS"	601836				8900189	Standard	NM_014970		Approved	SMAP, KAP3, FLA3, KAP-1	uc001ggv.3	Q92845	OTTHUMG00000035947	ENST00000361580.2:c.1377A>G	1.37:g.169953739T>C						KIFAP3_ENST00000367767.1_Silent_p.V415V|KIFAP3_ENST00000538366.1_Silent_p.V381V|KIFAP3_ENST00000361580.2_Silent_p.V459V|KIFAP3_ENST00000540905.1_Silent_p.V161V	p.V419V	NM_001204517.1	NP_001191446.1	Q92845	KIFA3_HUMAN			12	2758	-	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)		459					B1AKU4|B1AKU5|B2RDL1|B7Z8A3|F5H591|Q8NHU7|Q9H416	Silent	SNP	ENST00000361580.2	37	c.1257A>G	CCDS1288.1																																																																																				0.328	KIFAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087568.1	NM_014970		8	58	0	0	0	1	0	8	58					C	169953739	T	C	169953739	2	2	91	1	0	0	0	0	0	0	0	1	8311	1625	57	4		4	KIFAP3	1	169953739	Silent	SNP	T	TCGA-EJ-7330-01A-11D-2114-08	142930363	169953739	79296882	5	4650											
FBLN7	129804	broad.mit.edu	37	chr2	112940404	112940404	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctctacgggcaggaggggcGcccccggctctgcatgcacg	5	5	16	15	4	2	0	0	0	2	0	2	1	2	1	2	5	3	5	2	5	1	1			TCGA-EJ-7330-01A-11D-2114-08	TCGA-EJ-7330-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	478b235e-7e7f-4dbb-810b-44a50240b359	30f84a45-9998-47d3-87da-030f357d928e	g.chr2:112940404G>A	ENST00000331203.2	+	6	978	c.707G>A	c.(706-708)cGc>cAc	p.R236H	FBLN7_ENST00000409667.3_Intron|FBLN7_ENST00000409450.3_Missense_Mutation_p.R190H|FBLN7_ENST00000409903.1_Missense_Mutation_p.R236H	NM_001128165.1|NM_153214.2	NP_001121637.1|NP_694946.2	Q53RD9	FBLN7_HUMAN	fibulin 7	236	EGF-like 2; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17						CAGGAGGGGCGCCCCCGGCTC	0.622																																						ENST00000331203.2																			0				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17						c.(706-708)cGc>cAc		fibulin 7							55	58	57					2																	112940404		2203	4300	6503	SO:0001583	missense	129804				cell adhesion	proteinaceous extracellular matrix	calcium ion binding|heparin binding	g.chr2:112940404G>A		CCDS2095.1, CCDS46391.1	2q13	2010-06-15			ENSG00000144152	ENSG00000144152		"Fibulins"	26740	protein-coding gene	gene with protein product		611551				17699513	Standard	NM_153214		Approved	FLJ37440, TM14	uc002tho.1	Q53RD9	OTTHUMG00000153267	ENST00000331203.2:c.707G>A	2.37:g.112940404G>A	ENSP00000331411:p.Arg236His					FBLN7_ENST00000409903.1_Missense_Mutation_p.R236H|FBLN7_ENST00000409450.3_Missense_Mutation_p.R190H|FBLN7_ENST00000409667.3_Intron	p.R236H	NM_001128165.1|NM_153214.2	NP_001121637.1|NP_694946.2	Q53RD9	FBLN7_HUMAN			6	978	+			236			EGF-like 2; calcium-binding (Potential).		A0JNV1|A0JNV2|Q5H9P5|Q8N9G0	Missense_Mutation	SNP	ENST00000331203.2	37	c.707G>A	CCDS2095.1	.	.	.	.	.	.	.	.	.	.	G	19.87	3.907363	0.72868	.	.	ENSG00000144152	ENST00000331203;ENST00000409903;ENST00000409450;ENST00000441565;ENST00000272559	T;T;T;D;T	0.87256	-1.49;-1.4;-1.48;-2.23;-0.54	5.66	2.72	0.32119	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.250705	0.39210	N	0.001431	T	0.81767	0.4892	N	0.12961	0.28	0.31532	N	0.661079	D;D;D	0.76494	0.996;0.996;0.999	P;P;P	0.58172	0.738;0.54;0.834	T	0.79220	-0.1893	10	0.39692	T	0.17	-30.1063	5.9526	0.19255	0.0856:0.2718:0.5434:0.0993	.	190;236;236	Q53RD9-2;Q53RD9;B8ZZC1	.;FBLN7_HUMAN;.	H	236;236;190;130;58	ENSP00000331411:R236H;ENSP00000386295:R236H;ENSP00000387000:R190H;ENSP00000388025:R130H;ENSP00000272559:R58H	ENSP00000272559:R58H	R	+	2	0	FBLN7	112656875	0.719000	0.27986	0.890000	0.34922	0.989000	0.77384	1.199000	0.32235	0.702000	0.31825	0.655000	0.94253	CGC		0.622	FBLN7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330505.1	NM_153214		4	99	0	0	0	1	0	4	99					A	112940404	G	A	112940404	3	1	91	1	0	0	0	0	1	0	0	0	5701	1087	38	1	729	1	FBLN7	2	112940404	Missense_Mutation	SNP	G	TCGA-EJ-7330-01A-11D-2114-08		112940404	130258969	6	4651											
EPB41L5	57669	broad.mit.edu	37	chr2	120932465	120932465	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtcctgaagcagaagtgtttActgaccactgagctctgagg	10	10	12	9	0	1	5	0	4	1	1	2	5	2	5	2	1	3	3	2	1	3	2			TCGA-EJ-7330-01A-11D-2114-08	TCGA-EJ-7330-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	478b235e-7e7f-4dbb-810b-44a50240b359	30f84a45-9998-47d3-87da-030f357d928e	g.chr2:120932465A>G	ENST00000263713.5	+	25	2398	c.2184A>G	c.(2182-2184)ttA>ttG	p.L728L	EPB41L5_ENST00000452780.1_Silent_p.L727L|AC012363.4_ENST00000455707.1_RNA|EPB41L5_ENST00000443902.2_Missense_Mutation_p.T685A	NM_020909.3	NP_065960.2	Q9HCM4	E41L5_HUMAN	erythrocyte membrane protein band 4.1 like 5	728					actomyosin structure organization (GO:0031032)|apical constriction (GO:0003383)|axial mesoderm morphogenesis (GO:0048319)|cellular response to transforming growth factor beta stimulus (GO:0071560)|ectoderm development (GO:0007398)|embryonic foregut morphogenesis (GO:0048617)|endoderm development (GO:0007492)|epithelial to mesenchymal transition (GO:0001837)|in utero embryonic development (GO:0001701)|left/right axis specification (GO:0070986)|mesoderm migration involved in gastrulation (GO:0007509)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of protein binding (GO:0032091)|neural plate morphogenesis (GO:0001839)|paraxial mesoderm development (GO:0048339)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of protein binding (GO:0032092)|posttranscriptional regulation of gene expression (GO:0010608)|regulation of establishment of protein localization (GO:0070201)|somite rostral/caudal axis specification (GO:0032525)|substrate-dependent cell migration, cell attachment to substrate (GO:0006931)|unidimensional cell growth (GO:0009826)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(5)|lung(12)|ovary(1)	26						AGAAGTGTTTACTGACCACTG	0.512																																						ENST00000443902.2																			0				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(5)|lung(12)|ovary(1)	26						c.(2053-2055)Act>Gct		erythrocyte membrane protein band 4.1 like 5							199	199	199					2																	120932465		2203	4300	6503	SO:0001819	synonymous_variant	57669					cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding	g.chr2:120932465A>G	AK023019	CCDS2130.1, CCDS54392.1, CCDS54393.1	2q14.2	2009-07-28			ENSG00000115109	ENSG00000115109			19819	protein-coding gene	gene with protein product		611730					Standard	NM_001184937		Approved	KIAA1548, FLJ12957, BE37, YMO1	uc002tmg.3	Q9HCM4	OTTHUMG00000131433	ENST00000263713.5:c.2184A>G	2.37:g.120932465A>G						AC012363.4_ENST00000455707.1_RNA|EPB41L5_ENST00000452780.1_Silent_p.L727L|EPB41L5_ENST00000263713.5_Silent_p.L728L	p.T685A	NM_001184937.1	NP_001171866.1	Q9HCM4	E41L5_HUMAN			24	2195	+			0					Q7Z5S1|Q8IZ12|Q9H975	Missense_Mutation	SNP	ENST00000263713.5	37	c.2053A>G	CCDS2130.1	.	.	.	.	.	.	.	.	.	.	A	19.70	3.875884	0.72180	.	.	ENSG00000115109	ENST00000443902	T	0.80738	-1.41	5.03	0.243	0.15503	.	.	.	.	.	T	0.70185	0.3195	.	.	.	0.80722	D	1	B	0.02656	0.0	B	0.06405	0.002	T	0.63084	-0.6716	8	0.87932	D	0	.	7.1603	0.25661	0.5384:0.0:0.4616:0.0	.	685	Q9HCM4-4	.	A	685	ENSP00000393856:T685A	ENSP00000393856:T685A	T	+	1	0	EPB41L5	120648935	1.000000	0.71417	0.999000	0.59377	0.979000	0.70002	0.756000	0.26419	0.158000	0.19367	0.460000	0.39030	ACT		0.512	EPB41L5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254230.2	NM_020909		27	157	0	0	0	1	0	27	157					G	120932465	A	G	120932465	2	3	91	1	0	0	0	0	0	0	0	1	5157	391	14	4		4	EPB41L5	2	120932465	Silent	SNP	A	TCGA-EJ-7330-01A-11D-2114-08	7992061	120932465	122266908	7	4652											
DNAH7	56171	broad.mit.edu	37	chr2	196673406	196673406	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgagagggttaaaacatacCaaactatcatatactttctt	15	13	6	7	0	2	1	1	1	1	1	2	2	2	1	1	1	4	1	1	1	7	7			TCGA-EJ-7330-01A-11D-2114-08	TCGA-EJ-7330-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	478b235e-7e7f-4dbb-810b-44a50240b359	30f84a45-9998-47d3-87da-030f357d928e	g.chr2:196673406C>T	ENST00000312428.6	-	53	10183	c.10083G>A	c.(10081-10083)ttG>ttA	p.L3361L		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	3361					cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)	axonemal dynein complex (GO:0005858)|cilium (GO:0005929)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|microtubule motor activity (GO:0003777)	p.L3361F(1)		NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						TAAAACATACCAAACTATCAT	0.318																																						ENST00000312428.6																			1	Substitution - Missense(1)	p.L3361F(1)	lung(1)	NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						c.e53+1		dynein, axonemal, heavy chain 7							127	119	122					2																	196673406		1838	4084	5922	SO:0001630	splice_region_variant	56171				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr2:196673406C>T	AF327442	CCDS42794.1	2q33.1	2013-01-10	2006-09-04		ENSG00000118997	ENSG00000118997		"Axonemal dyneins", "EF-hand domain containing"	18661	protein-coding gene	gene with protein product		610061	"dynein, axonemal, heavy polypeptide 7"			9373155, 11877439	Standard	NM_018897		Approved	KIAA0944	uc002utj.4	Q8WXX0	OTTHUMG00000154438	ENST00000312428.6:c.10083+1G>A	2.37:g.196673406C>T							p.L3361_splice	NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN			53	10183	-			3361					B8ZZX8|O00433|O95492|Q4G152|Q53QX7|Q53S64|Q53T02|Q68CY5|Q8N1Z2|Q9UMS3|Q9Y2F3	Splice_Site	SNP	ENST00000312428.6	37	c.10083_splice	CCDS42794.1																																																																																				0.318	DNAH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335202.3	NM_018897	Silent	7	83	0	0	0	1	0	7	83					T	196673406	C	T	196673406	5	4	91	1	0	0	0	0	0	0	1	0	4606	608	21	3	2043	3	DNAH7	2	196673406	Splice_Site	SNP	C	TCGA-EJ-7330-01A-11D-2114-08	75740941	196673406	46525967	8	4653											
IQCF3	401067	broad.mit.edu	37	chr3	51864455	51864455	+	Nonsense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcatcacagaaaaagggtgAaggcagctgggcagatccag	14	5	14	8	0	1	3	1	1	0	2	2	3	2	3	1	3	2	4	1	3	3	0			TCGA-EJ-7330-01A-11D-2114-08	TCGA-EJ-7330-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	478b235e-7e7f-4dbb-810b-44a50240b359	30f84a45-9998-47d3-87da-030f357d928e	g.chr3:51864455A>T	ENST00000456080.1	+	8	1268	c.103A>T	c.(103-105)Aag>Tag	p.K35*	IQCF3_ENST00000444293.1_Intron|IQCF3_ENST00000446775.1_Nonsense_Mutation_p.K35*|IQCF3_ENST00000440739.2_Nonsense_Mutation_p.K35*|IQCF3_ENST00000437810.2_Nonsense_Mutation_p.K35*|IQCF3_ENST00000462079.1_3'UTR			P0C7M6	IQCF3_HUMAN	IQ motif containing F3	35										endometrium(1)|large_intestine(2)|lung(2)|ovary(1)	6				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		AAAAAGGGTGAAGGCAGCTGG	0.567																																						ENST00000456080.1																			0				endometrium(1)|large_intestine(2)|lung(2)|ovary(1)	6						c.(103-105)Aag>Tag		IQ motif containing F3							57	63	61					3																	51864455		2139	4256	6395	SO:0001587	stop_gained	401067							g.chr3:51864455A>T	AK057432	CCDS46837.1	3p21.31	2008-06-12			ENSG00000229972	ENSG00000229972			31816	protein-coding gene	gene with protein product							Standard	NM_001085479		Approved		uc021wyz.1	P0C7M6	OTTHUMG00000156910	ENST00000456080.1:c.103A>T	3.37:g.51864455A>T	ENSP00000415609:p.Lys35*					IQCF3_ENST00000462079.1_3'UTR|IQCF3_ENST00000446775.1_Nonsense_Mutation_p.K35*|IQCF3_ENST00000444293.1_Intron|IQCF3_ENST00000440739.2_Nonsense_Mutation_p.K35*|IQCF3_ENST00000437810.2_Nonsense_Mutation_p.K35*	p.K35*			P0C7M6	IQCF3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	8	1268	+			35					B2RUV0	Nonsense_Mutation	SNP	ENST00000456080.1	37	c.103A>T	CCDS46837.1	.	.	.	.	.	.	.	.	.	.	A	38	6.983284	0.97979	.	.	ENSG00000229972	ENST00000456080;ENST00000437810;ENST00000446775;ENST00000440739	.	.	.	4.41	-1.83	0.07833	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	6.8847	0.24193	0.56:0.218:0.2219:0.0	.	.	.	.	X	35	.	ENSP00000409373:K35X	K	+	1	0	IQCF3	51839495	0.000000	0.05858	0.000000	0.03702	0.056000	0.15407	-1.049000	0.03514	-0.484000	0.06763	-0.213000	0.12676	AAG		0.567	IQCF3-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346579.2	NM_001085479		15	43	0	0	0	1	0	15	43					T	51864455	A	T	51864455	4	4	91	1	0	0	0	0	0	1	0	0	7809	247	9	5	113	5	IQCF3	3	51864455	Nonsense_Mutation	SNP	A	TCGA-EJ-7330-01A-11D-2114-08		51864455	146157975	9	4654											
RYBP	23429	broad.mit.edu	37	chr3	72428400	72428400	+	Splice_Site	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	acttagttaaccagaaacttActtggttttcttgttggtat	10	18	7	6	0	1	1	0	0	1	1	1	1	1	1	1	2	3	4	1	2	5	9			TCGA-EJ-7330-01A-11D-2114-08	TCGA-EJ-7330-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	478b235e-7e7f-4dbb-810b-44a50240b359	30f84a45-9998-47d3-87da-030f357d928e	g.chr3:72428400A>T	ENST00000477973.2	-	2	600		c.e2+1			NM_012234.5	NP_036366.3	Q8N488	RYBP_HUMAN	RING1 and YY1 binding protein						apoptotic process (GO:0006915)|histone H2A monoubiquitination (GO:0035518)|multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			prostate(1)|upper_aerodigestive_tract(1)	2		Prostate(10;0.00174)|Lung NSC(201;0.0659)|Myeloproliferative disorder(1037;0.204)		BRCA - Breast invasive adenocarcinoma(55;0.000197)|Epithelial(33;0.00068)|LUSC - Lung squamous cell carcinoma(21;0.00228)|Lung(16;0.00677)|KIRC - Kidney renal clear cell carcinoma(39;0.198)|Kidney(39;0.232)		CCAGAAACTTACTTGGTTTTC	0.328																																						ENST00000477973.1																			0				prostate(1)|upper_aerodigestive_tract(1)	2						c.e2+1		RING1 and YY1 binding protein							227	220	222					3																	72428400		1838	4095	5933	SO:0001630	splice_region_variant	23429				apoptosis|histone H2A monoubiquitination|multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleoplasm	DNA binding|protein binding|transcription corepressor activity|zinc ion binding	g.chr3:72428400A>T	AF179286		3p14.2	2008-07-18			ENSG00000163602	ENSG00000163602			10480	protein-coding gene	gene with protein product	"YY1 and E4TF1 associated factor 1", "ring1 interactor RYBP", "apoptin-associating protein 1", "death effector domain-associated factor"	607535				10369680	Standard	NM_012234		Approved	YEAF1, AAP1, DEDAF	uc003dpe.3	Q8N488	OTTHUMG00000159190	ENST00000477973.2:c.600+1T>A	3.37:g.72428400A>T								NM_012234.5	NP_036366.3	Q8N488	RYBP_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000197)|Epithelial(33;0.00068)|LUSC - Lung squamous cell carcinoma(21;0.00228)|Lung(16;0.00677)|KIRC - Kidney renal clear cell carcinoma(39;0.198)|Kidney(39;0.232)	2	600	-		Prostate(10;0.00174)|Lung NSC(201;0.0659)|Myeloproliferative disorder(1037;0.204)						Q9P2W5|Q9UMW4	Splice_Site	SNP	ENST00000477973.2	37			.	.	.	.	.	.	.	.	.	.	A	16.72	3.201851	0.58234	.	.	ENSG00000163602	ENST00000477973	.	.	.	5.76	5.76	0.90799	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.0916	0.81094	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	RYBP	72511090	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	7.266000	0.78452	2.186000	0.69663	0.533000	0.62120	.		0.328	RYBP-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000353762.3	NM_012234	Intron	28	99	0	0	0	1	0	28	99					T	72428400	A	T	72428400	5	4	91	1	0	0	0	0	0	0	1	0	13766	405	14	5	361	5	RYBP	3	72428400	Splice_Site	SNP	A	TCGA-EJ-7330-01A-11D-2114-08	20563945	72428400	125594030	10	4655											
KCNAB1	7881	broad.mit.edu	37	chr3	156192555	156192555	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctccagaggctgcagctcGagtatgtggatgtggtcttt	6	12	13	10	1	1	1	0	0	1	1	3	3	2	2	2	3	2	4	2	3	1	2	rs377328629		TCGA-EJ-7330-01A-11D-2114-08	TCGA-EJ-7330-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	478b235e-7e7f-4dbb-810b-44a50240b359	30f84a45-9998-47d3-87da-030f357d928e	g.chr3:156192555G>T	ENST00000490337.1	+	8	668	c.604G>T	c.(604-606)Gag>Tag	p.E202*	KCNAB1_ENST00000497291.1_3'UTR|KCNAB1_ENST00000471742.1_Nonsense_Mutation_p.E191*|KCNAB1_ENST00000302490.8_Nonsense_Mutation_p.E184*|KCNAB1_ENST00000389634.5_Intron|KCNAB1_ENST00000389636.5_Intron	NM_172160.2	NP_751892.1	Q14722	KCAB1_HUMAN	potassium voltage-gated channel, shaker-related subfamily, beta member 1	202					learning or memory (GO:0007611)|potassium ion transport (GO:0006813)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	potassium channel regulator activity (GO:0015459)|voltage-gated potassium channel activity (GO:0005249)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	28			LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)			GCTGCAGCTCGAGTATGTGGA	0.433																																						ENST00000302490.8																			0				breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	28						c.(550-552)Gag>Tag		potassium voltage-gated channel, shaker-related subfamily, beta member 1							119	121	120					3																	156192555		2203	4300	6503	SO:0001587	stop_gained	7881					cytoplasm|integral to membrane	oxidoreductase activity|potassium channel regulator activity|voltage-gated potassium channel activity	g.chr3:156192555G>T	U33428	CCDS3174.1, CCDS3175.1, CCDS33882.1	3q26.1	2006-11-29			ENSG00000169282	ENSG00000169282		"Potassium channels", "Aldo-keto reductases"	6228	protein-coding gene	gene with protein product		601141				8838324, 7499366	Standard	NM_172160		Approved	AKR6A3, KCNA1B, hKvBeta3, Kvb1.3, hKvb3	uc003far.2	Q14722	OTTHUMG00000158552	ENST00000490337.1:c.604G>T	3.37:g.156192555G>T	ENSP00000419952:p.Glu202*					KCNAB1_ENST00000490337.1_Nonsense_Mutation_p.E202*|KCNAB1_ENST00000389634.5_Intron|KCNAB1_ENST00000497291.1_3'UTR|KCNAB1_ENST00000471742.1_Nonsense_Mutation_p.E191*|KCNAB1_ENST00000389636.5_Intron	p.E184*	NM_172159.3	NP_751891.1	Q14722	KCAB1_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)		8	1421	+			202					A8K9H8|A8KAD4|B3KPZ4|Q13031|Q13302|Q16547|Q6PI60|Q99869	Nonsense_Mutation	SNP	ENST00000490337.1	37	c.550G>T	CCDS3174.1	.	.	.	.	.	.	.	.	.	.	G	36	5.895872	0.97081	.	.	ENSG00000169282	ENST00000490337;ENST00000471742;ENST00000475456;ENST00000302490	.	.	.	5.76	5.76	0.90799	.	0.096119	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-6.6509	18.7572	0.91837	0.0:0.0:1.0:0.0	.	.	.	.	X	202;191;145;184	.	ENSP00000305858:E184X	E	+	1	0	KCNAB1	157675249	1.000000	0.71417	0.972000	0.41901	0.899000	0.52679	8.873000	0.92357	2.706000	0.92434	0.655000	0.94253	GAG		0.433	KCNAB1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000351411.1	NM_003471		14	128	1	0	4.7546e-09	1	5.27464e-09	14	128					T	156192555	G	T	156192555	4	4	91	1	0	0	0	0	0	1	0	0	8009	1059	37	5	1105	5	KCNAB1	3	156192555	Nonsense_Mutation	SNP	G	TCGA-EJ-7330-01A-11D-2114-08	83764155	156192555	41829875	11	4656											
HELQ	113510	broad.mit.edu	37	chr4	84370065	84370065	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gttggcaaggaatatattaaAttttttctttcttgcacaga	12	17	7	5	0	2	1	0	0	2	1	2	2	2	2	0	2	1	3	0	2	6	9			TCGA-EJ-7330-01A-11D-2114-08	TCGA-EJ-7330-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	478b235e-7e7f-4dbb-810b-44a50240b359	30f84a45-9998-47d3-87da-030f357d928e	g.chr4:84370065A>T	ENST00000295488.3	-	3	1224	c.1062T>A	c.(1060-1062)aaT>aaA	p.N354K	HELQ_ENST00000510985.1_Missense_Mutation_p.N354K	NM_133636.2	NP_598375	Q8TDG4	HELQ_HUMAN	helicase, POLQ-like	354	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				double-strand break repair via homologous recombination (GO:0000724)	nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)			breast(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(10)|lung(17)|ovary(2)|skin(2)	38						AATATATTAAATTTTTTCTTT	0.338								Other identified genes with known or suspected DNA repair function																														ENST00000295488.3																			0				breast(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(10)|lung(17)|ovary(2)|skin(2)	38						c.(1060-1062)aaT>aaA	Other identified genes with known or suspected DNA repair function	helicase, POLQ-like							44	45	45					4																	84370065		2203	4299	6502	SO:0001583	missense	113510						ATP binding|ATP-dependent helicase activity|nucleic acid binding	g.chr4:84370065A>T	AF436845	CCDS3603.1, CCDS75158.1	4q21.23	2009-02-26			ENSG00000163312	ENSG00000163312			18536	protein-coding gene	gene with protein product		606769				11751861	Standard	XM_005262711		Approved	Hel308	uc003hom.3	Q8TDG4	OTTHUMG00000130423	ENST00000295488.3:c.1062T>A	4.37:g.84370065A>T	ENSP00000295488:p.Asn354Lys					HELQ_ENST00000510985.1_Missense_Mutation_p.N354K	p.N354K	NM_133636.2	NP_598375.2	Q8TDG4	HELQ_HUMAN			3	1224	-			354			Helicase ATP-binding.		Q05DF9|Q502W9|Q659B8|Q6ZQX4|Q6ZTS4|Q96EX7	Missense_Mutation	SNP	ENST00000295488.3	37	c.1062T>A	CCDS3603.1	.	.	.	.	.	.	.	.	.	.	A	17.32	3.359108	0.61403	.	.	ENSG00000163312	ENST00000295488;ENST00000510985	T;T	0.56941	2.42;0.43	5.88	4.69	0.59074	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.81522	0.4840	H	0.98901	4.365	0.24965	N	0.991708	D;D	0.89917	1.0;1.0	D;D	0.91635	0.996;0.999	T	0.76990	-0.2754	10	0.87932	D	0	.	8.5231	0.33289	0.7777:0.0:0.2223:0.0	.	354;354	E3W980;Q8TDG4	.;HELQ_HUMAN	K	354	ENSP00000295488:N354K;ENSP00000424539:N354K	ENSP00000295488:N354K	N	-	3	2	HELQ	84589089	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.586000	0.46119	1.035000	0.39972	0.533000	0.62120	AAT		0.338	HELQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252810.1	NM_133636		3	31	0	0	0	1	0	3	31					T	84370065	A	T	84370065	3	4	91	1	0	0	0	0	1	0	0	0	7047	98	4	5	2307	5	HELQ	4	84370065	Missense_Mutation	SNP	A	TCGA-EJ-7330-01A-11D-2114-08		84370065	106784211	12	4657											
GRID2	2895	broad.mit.edu	37	chr4	94693450	94693450	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcagatccagactcttagccGcacactgtcagctaaagctg	11	8	9	13	1	2	2	1	0	1	2	3	2	3	2	2	0	3	4	2	0	3	2			TCGA-EJ-7330-01A-11D-2114-08	TCGA-EJ-7330-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	478b235e-7e7f-4dbb-810b-44a50240b359	30f84a45-9998-47d3-87da-030f357d928e	g.chr4:94693450G>A	ENST00000282020.4	+	16	3083	c.2825G>A	c.(2824-2826)cGc>cAc	p.R942H	GRID2_ENST00000510992.1_Missense_Mutation_p.R847H	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	942	Interaction with AP4M1. {ECO:0000250}.				cellular protein localization (GO:0034613)|cerebellar granule cell differentiation (GO:0021707)|glutamate receptor signaling pathway (GO:0007215)|heterophilic cell-cell adhesion (GO:0007157)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|prepulse inhibition (GO:0060134)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of neuron apoptotic process (GO:0043523)|regulation of neuron projection development (GO:0010975)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|ionotropic glutamate receptor complex (GO:0008328)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|ionotropic glutamate receptor activity (GO:0004970)|PDZ domain binding (GO:0030165)|scaffold protein binding (GO:0097110)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)		ACTCTTAGCCGCACACTGTCA	0.493																																						ENST00000282020.4																			0				NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100						c.(2824-2826)cGc>cAc		glutamate receptor, ionotropic, delta 2	L-Glutamic Acid(DB00142)						103	97	99					4																	94693450		2203	4300	6503	SO:0001583	missense	2895				glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity	g.chr4:94693450G>A	AF009014	CCDS3637.1, CCDS68758.1	4q22	2012-08-29			ENSG00000152208	ENSG00000152208		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4576	protein-coding gene	gene with protein product		602368				9465309	Standard	NM_001510		Approved	GluD2, GluR-delta-2	uc011cdt.2	O43424	OTTHUMG00000130975	ENST00000282020.4:c.2825G>A	4.37:g.94693450G>A	ENSP00000282020:p.Arg942His					GRID2_ENST00000510992.1_Missense_Mutation_p.R847H	p.R942H	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	16	3083	+		Hepatocellular(203;0.114)|all_hematologic(202;0.177)	942			Interaction with AP4M1 (By similarity).		E9PH24|Q4KKU8|Q4KKU9|Q4KKV0|Q59FZ1	Missense_Mutation	SNP	ENST00000282020.4	37	c.2825G>A	CCDS3637.1	.	.	.	.	.	.	.	.	.	.	G	18.64	3.666697	0.67814	.	.	ENSG00000152208	ENST00000282020;ENST00000510992	T;T	0.17054	2.35;2.3	5.52	5.52	0.82312	.	0.190903	0.49305	D	0.000141	T	0.33352	0.0860	L	0.32530	0.975	0.80722	D	1	D;D	0.71674	0.998;0.998	D;D	0.69479	0.964;0.964	T	0.04165	-1.0972	10	0.87932	D	0	.	19.4447	0.94841	0.0:0.0:1.0:0.0	.	847;942	E9PH24;O43424	.;GRID2_HUMAN	H	942;847	ENSP00000282020:R942H;ENSP00000421257:R847H	ENSP00000282020:R942H	R	+	2	0	GRID2	94912473	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.429000	0.97481	2.588000	0.87417	0.650000	0.86243	CGC		0.493	GRID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253588.2			3	54	0	0	0	1	0	3	54					A	94693450	G	A	94693450	3	1	91	1	0	0	0	0	1	0	0	0	6772	1087	38	1	2887	1	GRID2	4	94693450	Missense_Mutation	SNP	G	TCGA-EJ-7330-01A-11D-2114-08	10323385	94693450	96460826	13	4658											
AGA	175	broad.mit.edu	37	chr4	178360790	178360790	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tactttccgtgccacaccaaTagcatttttaattcgtctga	10	15	5	11	2	1	1	0	1	1	0	3	1	2	1	3	0	3	1	3	0	4	7			TCGA-EJ-7330-01A-11D-2114-08	TCGA-EJ-7330-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	478b235e-7e7f-4dbb-810b-44a50240b359	30f84a45-9998-47d3-87da-030f357d928e	g.chr4:178360790T>C	ENST00000264595.2	-	3	461	c.334A>G	c.(334-336)Att>Gtt	p.I112V	AGA_ENST00000506853.1_5'UTR	NM_000027.3|NM_001171988.1	NP_000018.2|NP_001165459.1	P20933	ASPG_HUMAN	aspartylglucosaminidase	112					protein deglycosylation (GO:0006517)|protein maturation (GO:0051604)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	N4-(beta-N-acetylglucosaminyl)-L-asparaginase activity (GO:0003948)|peptidase activity (GO:0008233)	p.I112V(1)		endometrium(1)|kidney(2)|large_intestine(6)|lung(5)|skin(2)	16		all_lung(41;1.27e-09)|Lung NSC(41;1.1e-08)|Breast(14;6.27e-05)|Melanoma(52;0.00102)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Hepatocellular(41;0.148)|all_neural(102;0.164)|Colorectal(36;0.245)		all cancers(43;1.37e-22)|Epithelial(43;3.86e-20)|OV - Ovarian serous cystadenocarcinoma(60;3.8e-11)|Colorectal(24;6.98e-05)|GBM - Glioblastoma multiforme(59;0.000362)|COAD - Colon adenocarcinoma(29;0.000462)|STAD - Stomach adenocarcinoma(60;0.0029)|LUSC - Lung squamous cell carcinoma(193;0.0328)|READ - Rectum adenocarcinoma(43;0.163)		GCCACACCAATAGCATTTTTA	0.368																																						ENST00000264595.2																			1	Substitution - Missense(1)	p.I112V(1)	lung(1)	endometrium(1)|kidney(2)|large_intestine(6)|lung(5)|skin(2)	16						c.(334-336)Att>Gtt		aspartylglucosaminidase							224	214	217					4																	178360790		2203	4300	6503	SO:0001583	missense	175				asparagine catabolic process via L-aspartate|protein deglycosylation|protein maturation	endoplasmic reticulum|intermediate filament cytoskeleton|lysosome|microtubule cytoskeleton	N4-(beta-N-acetylglucosaminyl)-L-asparaginase activity	g.chr4:178360790T>C	X55330	CCDS3829.1	4q34.3	2014-06-23			ENSG00000038002	ENSG00000038002	3.5.1.26		318	protein-coding gene	gene with protein product	"glycosylasparaginase", "N(4)-(beta-N-acetylglucosaminyl)-L-asparaginase"	613228					Standard	NM_000027		Approved	ASRG	uc003iuu.2	P20933	OTTHUMG00000160723	ENST00000264595.2:c.334A>G	4.37:g.178360790T>C	ENSP00000264595:p.Ile112Val					AGA_ENST00000506853.1_5'UTR	p.I112V	NM_000027.3|NM_001171988.1	NP_000018.2|NP_001165459.1	P20933	ASPG_HUMAN		all cancers(43;1.37e-22)|Epithelial(43;3.86e-20)|OV - Ovarian serous cystadenocarcinoma(60;3.8e-11)|Colorectal(24;6.98e-05)|GBM - Glioblastoma multiforme(59;0.000362)|COAD - Colon adenocarcinoma(29;0.000462)|STAD - Stomach adenocarcinoma(60;0.0029)|LUSC - Lung squamous cell carcinoma(193;0.0328)|READ - Rectum adenocarcinoma(43;0.163)	3	461	-		all_lung(41;1.27e-09)|Lung NSC(41;1.1e-08)|Breast(14;6.27e-05)|Melanoma(52;0.00102)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Hepatocellular(41;0.148)|all_neural(102;0.164)|Colorectal(36;0.245)	112					B2R7H2|D3DP47|Q4W5Q2|Q6FHN6|Q9UCK6|Q9UCK7|Q9UCK8	Missense_Mutation	SNP	ENST00000264595.2	37	c.334A>G	CCDS3829.1	.	.	.	.	.	.	.	.	.	.	T	16.03	3.005931	0.54254	.	.	ENSG00000038002	ENST00000264595	D	0.89681	-2.55	5.93	4.75	0.60458	.	0.047275	0.85682	D	0.000000	D	0.86518	0.5952	L	0.37800	1.135	0.58432	D	0.999995	B	0.23806	0.091	B	0.37943	0.261	T	0.82627	-0.0364	10	0.48119	T	0.1	-10.726	11.7123	0.51633	0.0:0.0694:0.0:0.9306	.	112	P20933	ASPG_HUMAN	V	112	ENSP00000264595:I112V	ENSP00000264595:I112V	I	-	1	0	AGA	178597784	1.000000	0.71417	0.998000	0.56505	0.999000	0.98932	4.194000	0.58393	1.070000	0.40811	0.533000	0.62120	ATT		0.368	AGA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361916.1	NM_000027		38	271	0	0	0	1	0	38	271					C	178360790	T	C	178360790	3	2	91	1	0	0	0	0	1	0	0	0	365	1406	49	4	734	4	AGA	4	178360790	Missense_Mutation	SNP	T	TCGA-EJ-7330-01A-11D-2114-08	83667340	178360790	12793486	14	4659											
ZNF608	57507	broad.mit.edu	37	chr5	124079813	124079815	+	In_Frame_Del	DEL	CTC	CTC	-																															ttcttgattcgcctgtggctCtcctcctcctcctcttcctt																										TCGA-EJ-7330-01A-11D-2114-08	TCGA-EJ-7330-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	478b235e-7e7f-4dbb-810b-44a50240b359	d2a35e27-301b-4cd6-8246-bd0ac6c2e023	g.chr5:124079813_124079815delCTC	ENST00000306315.5	-	1	1303_1305	c.868_870delGAG	c.(868-870)gagdel	p.E290del	ZNF608_ENST00000504926.1_Intron	NM_020747.2	NP_065798.2	Q9ULD9	ZN608_HUMAN	zinc finger protein 608	290							metal ion binding (GO:0046872)			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(12)|ovary(3)|skin(6)|urinary_tract(1)	46		all_cancers(142;0.186)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783)		GCCTGTGGCTCTCCTCCTCCTCC	0.522																																						ENST00000306315.5																			0				breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(12)|ovary(3)|skin(6)|urinary_tract(1)	46						c.(868-870)del		zinc finger protein 608																																				SO:0001651	inframe_deletion	57507					intracellular	zinc ion binding	g.chr5:124079813_124079815delCTC	AB033107	CCDS34219.1	5q23.2	2008-05-02			ENSG00000168916	ENSG00000168916		"Zinc fingers, C2H2-type"	29238	protein-coding gene	gene with protein product						10574462, 10508479	Standard	NM_020747		Approved	KIAA1281, DKFZp434M098, NY-REN-36	uc003ktq.1	Q9ULD9	OTTHUMG00000162999	ENST00000306315.5:c.868_870delGAG	5.37:g.124079822_124079824delCTC	ENSP00000307746:p.Glu290del					ZNF608_ENST00000504926.1_Intron	p.E290del	NM_020747.2	NP_065798.2	Q9ULD9	ZN608_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783)	1	1303_1305	-		all_cancers(142;0.186)|Prostate(80;0.081)	290					A7E2W9|Q3SYM6|Q68D12|Q8IY05|Q9Y5A1	In_Frame_Del	DEL	ENST00000306315.5	37	c.868_870delGAG	CCDS34219.1																																																																																				0.522	ZNF608-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371300.1	XM_114432		7	262						7	262	---	---	---	---	-	124079815	CTC	-	124079813	7	5	91	1	0	1	0	1	0	0	0	0	18031	912	32	0	3704	0	ZNF608	5	124079813	In_Frame_Del	DEL	CTC	TCGA-EJ-7330-01A-11D-2114-08		124079813	56835447	15	4660											
PCDH1	5097	broad.mit.edu	37	chr5	141242917	141242917	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaggtggcaggtcctgtacCacctggtgcttcttggaggc	5	10	15	11	0	1	0	0	0	1	0	2	1	2	1	3	6	2	4	3	6	1	3			TCGA-EJ-7330-01A-11D-2114-08	TCGA-EJ-7330-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	478b235e-7e7f-4dbb-810b-44a50240b359	30f84a45-9998-47d3-87da-030f357d928e	g.chr5:141242917C>T	ENST00000394536.3	-	3	3118	c.2979G>A	c.(2977-2979)gtG>gtA	p.V993V	PCDH1_ENST00000536585.1_Silent_p.V971V|PCDH1_ENST00000287008.3_Silent_p.V993V|PCDH1_ENST00000511044.1_5'UTR|PCDH1_ENST00000456271.1_Silent_p.V981V|PCDH1_ENST00000503492.1_Intron	NM_001278613.1|NM_001278615.1	NP_001265542.1|NP_001265544.1	Q08174	PCDH1_HUMAN	protocadherin 1	993					cell-cell signaling (GO:0007267)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	cell-cell junction (GO:0005911)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(20)|ovary(5)|skin(3)|upper_aerodigestive_tract(1)	51		Lung NSC(810;0.027)|all_lung(500;0.0321)|all_hematologic(541;0.0433)|Prostate(461;0.0453)|Breast(839;0.128)|Lung SC(612;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;1.06e-05)		GGTCCTGTACCACCTGGTGCT	0.637																																					Ovarian(132;1609 1739 4190 14731 45037)	ENST00000287008.3																			0				breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(20)|ovary(5)|skin(3)|upper_aerodigestive_tract(1)	51						c.(2977-2979)gtG>gtA		protocadherin 1							76	68	70					5																	141242917		2203	4300	6503	SO:0001819	synonymous_variant	5097				cell-cell signaling|homophilic cell adhesion|nervous system development	cell-cell junction|integral to plasma membrane	calcium ion binding	g.chr5:141242917C>T	AK075233	CCDS4267.1, CCDS43375.1	5q31.3	2010-01-26	2007-02-12		ENSG00000156453	ENSG00000156453		"Cadherins / Protocadherins : Non-clustered"	8655	protein-coding gene	gene with protein product		603626	"protocadherin 1 (cadherin-like 1)"			8508762	Standard	NM_032420		Approved	pc42	uc003llp.3	Q08174	OTTHUMG00000129661	ENST00000394536.3:c.2979G>A	5.37:g.141242917C>T						PCDH1_ENST00000511044.1_5'UTR|PCDH1_ENST00000394536.3_Silent_p.V993V|PCDH1_ENST00000456271.1_Silent_p.V981V|PCDH1_ENST00000503492.1_Intron|PCDH1_ENST00000536585.1_Silent_p.V971V	p.V993V	NM_032420.2	NP_115796.2	Q08174	PCDH1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;1.06e-05)	3	3126	-		Lung NSC(810;0.027)|all_lung(500;0.0321)|all_hematologic(541;0.0433)|Prostate(461;0.0453)|Breast(839;0.128)|Lung SC(612;0.238)	993					Q8IUP2	Silent	SNP	ENST00000394536.3	37	c.2979G>A	CCDS43375.1																																																																																				0.637	PCDH1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000251862.1	NM_032420		3	24	0	0	0	1	0	3	24					T	141242917	C	T	141242917	2	4	91	1	0	0	0	0	0	0	0	1	11506	581	21	3		3	PCDH1	5	141242917	Silent	SNP	C	TCGA-EJ-7330-01A-11D-2114-08	17163104	141242917	39672343	16	4661											
ODZ2	57451	broad.mit.edu	37	chr5	167420049	167420049	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cggtttacacgcccccgcccCgcctgctgcccaggaatact	6	7	9	19	4	0	0	0	0	0	0	0	1	0	1	6	2	4	2	6	2	3	3	rs377232283		TCGA-EJ-7330-01A-11D-2114-08	TCGA-EJ-7330-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	478b235e-7e7f-4dbb-810b-44a50240b359	30f84a45-9998-47d3-87da-030f357d928e	g.chr5:167420049C>T	ENST00000518659.1	+	5	1087	c.1048C>T	c.(1048-1050)Cgc>Tgc	p.R350C	TENM2_ENST00000520394.1_Missense_Mutation_p.R159C|TENM2_ENST00000545108.1_Missense_Mutation_p.R350C|TENM2_ENST00000519204.1_Missense_Mutation_p.R229C|TENM2_ENST00000403607.2_Missense_Mutation_p.R183C	NM_001122679.1	NP_001116151.1	Q9NT68	TEN2_HUMAN	teneurin transmembrane protein 2	350	Teneurin N-terminal. {ECO:0000255|PROSITE-ProRule:PRU00694}.				axon guidance (GO:0007411)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|heterophilic cell-cell adhesion (GO:0007157)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of filopodium assembly (GO:0051491)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cell-cell junction (GO:0005911)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|endoplasmic reticulum (GO:0005783)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)										GCCCCCGCCCCGCCTGCTGCC	0.587																																						ENST00000519204.1																			0											c.(685-687)Cgc>Tgc		teneurin transmembrane protein 2																																				SO:0001583	missense	57451							g.chr5:167420049C>T	AB032953		5q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000145934	ENSG00000145934			29943	protein-coding gene	gene with protein product		610119	"odz, odd Oz/ten-m homolog 2 (Drosophila)"	ODZ2		10625539	Standard	NM_001122679		Approved	KIAA1127, Ten-M2	uc010jjd.3	Q9NT68	OTTHUMG00000162928	ENST00000518659.1:c.1048C>T	5.37:g.167420049C>T	ENSP00000429430:p.Arg350Cys					TENM2_ENST00000520394.1_Missense_Mutation_p.R159C|TENM2_ENST00000545108.1_Missense_Mutation_p.R350C|TENM2_ENST00000403607.2_Missense_Mutation_p.R183C|TENM2_ENST00000518659.1_Missense_Mutation_p.R350C	p.R229C							4	803	+								Q9ULU2	Missense_Mutation	SNP	ENST00000518659.1	37	c.685C>T		.	.	.	.	.	.	.	.	.	.	C	25.4	4.639460	0.87760	.	.	ENSG00000145934	ENST00000518659;ENST00000545108;ENST00000519204;ENST00000520394;ENST00000403607	T;T;T;T;T	0.46451	0.87;0.87;0.87;0.87;0.87	5.74	4.8	0.61643	Teneurin intracellular, N-terminal (2);	0.062950	0.64402	D	0.000018	T	0.59797	0.2220	M	0.67397	2.05	0.80722	D	1	D;D;D	0.89917	1.0;0.994;1.0	D;P;D	0.74023	0.982;0.629;0.969	T	0.61950	-0.6957	10	0.87932	D	0	.	11.3901	0.49809	0.3933:0.6067:0.0:0.0	.	350;159;229	Q9NT68;F8VNQ3;G3V106	TEN2_HUMAN;.;.	C	350;350;229;159;183	ENSP00000429430:R350C;ENSP00000438635:R350C;ENSP00000428964:R229C;ENSP00000427874:R159C;ENSP00000384905:R183C	ENSP00000384905:R183C	R	+	1	0	ODZ2	167352627	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.911000	0.63328	2.712000	0.92718	0.650000	0.86243	CGC		0.587	TENM2-001	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000376096.1	NM_001122679		4	88	0	0	0	1	0	4	88					T	167420049	C	T	167420049	3	4	91	1	0	0	0	0	1	0	0	0	10835	652	23	2	1066	2	ODZ2	5	167420049	Missense_Mutation	SNP	C	TCGA-EJ-7330-01A-11D-2114-08	26177132	167420049	13495211	17	4662											
CRISP2	7180	broad.mit.edu	37	chr6	49665572	49665572	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aactctaaacagtctacttaCgcaggacaatattggcaaac	16	9	6	10	1	2	0	0	0	2	0	2	1	2	1	0	2	5	2	0	2	8	5	rs147611117		TCGA-EJ-7330-01A-11D-2114-08	TCGA-EJ-7330-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	478b235e-7e7f-4dbb-810b-44a50240b359	30f84a45-9998-47d3-87da-030f357d928e	g.chr6:49665572C>T	ENST00000339139.4	-	8	752		c.e8+1			NM_001142407.2|NM_001142408.2|NM_001142417.2|NM_001142435.2|NM_001261822.1|NM_003296.3	NP_001135879.1|NP_001135880.1|NP_001135889.1|NP_001135907.1|NP_001248751.1|NP_003287.1	P16562	CRIS2_HUMAN	cysteine-rich secretory protein 2						single organismal cell-cell adhesion (GO:0016337)	extracellular space (GO:0005615)				kidney(1)|large_intestine(2)|lung(10)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	19	Lung NSC(77;0.0161)		KIRC - Kidney renal clear cell carcinoma(2;0.106)|Kidney(12;0.156)			AGTCTACTTACGCAGGACAAT	0.328																																						ENST00000339139.4																			0				kidney(1)|large_intestine(2)|lung(10)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	19						c.e8+1		cysteine-rich secretory protein 2		C	,,,,	0,4406		0,0,2203	106	106	106		,,,,	3.9	1	6	dbSNP_134	106	1,8599	1.2+/-3.3	0,1,4299	no	splice-5,splice-5,splice-5,splice-5,splice-5	CRISP2	NM_001142407.1,NM_001142408.1,NM_001142417.1,NM_001142435.1,NM_003296.2	,,,,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,,,,	,,,,	49665572	1,13005	2203	4300	6503	SO:0001630	splice_region_variant	7180					extracellular space		g.chr6:49665572C>T	X95239	CCDS4928.1	6p12.3	2009-03-12	2003-09-03	2003-09-05	ENSG00000124490	ENSG00000124490			12024	protein-coding gene	gene with protein product	"cancer/testis antigen 36"	187430	"testis specific protein 1 (probe H4-1 p3-1)"	GAPDL5, TPX1		2613236, 8665901	Standard	NM_003296		Approved	CRISP-2, CT36	uc003ozo.3	P16562	OTTHUMG00000014822	ENST00000339139.4:c.515+1G>A	6.37:g.49665572C>T								NM_001142407.2|NM_001142408.2|NM_001142417.2|NM_001142435.2|NM_001261822.1|NM_003296.3	NP_001135879.1|NP_001135880.1|NP_001135889.1|NP_001135907.1|NP_001248751.1|NP_003287.1	P16562	CRIS2_HUMAN	KIRC - Kidney renal clear cell carcinoma(2;0.106)|Kidney(12;0.156)		8	752	-	Lung NSC(77;0.0161)							A8K8M0|Q53FF2|Q5U8Z9|Q7Z7B2	Splice_Site	SNP	ENST00000339139.4	37		CCDS4928.1	.	.	.	.	.	.	.	.	.	.	C	17.91	3.503361	0.64298	0.0	1.16E-4	ENSG00000124490	ENST00000339139;ENST00000211238	.	.	.	4.77	3.9	0.45041	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.3221	0.49428	0.0:0.9102:0.0:0.0898	.	.	.	.	.	-1	.	.	.	-	.	.	CRISP2	49773531	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	2.387000	0.44389	1.373000	0.46208	0.650000	0.86243	.		0.328	CRISP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040870.2	NM_003296	Intron	22	138	0	0	0	1	0	22	138					T	49665572	C	T	49665572	5	4	91	1	0	0	0	0	0	0	1	0	3880	550	19	1	227	1	CRISP2	6	49665572	Splice_Site	SNP	C	TCGA-EJ-7330-01A-11D-2114-08		49665572	121449495	18	4663											
USP45	85015	broad.mit.edu	37	chr6	99955361	99955361	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggggctctgttctggaactcTtaaagtgcttcaatgaatgt	9	14	11	7	0	4	1	1	1	3	0	4	2	4	2	0	3	2	3	0	3	5	3			TCGA-EJ-7330-01A-11D-2114-08	TCGA-EJ-7330-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	478b235e-7e7f-4dbb-810b-44a50240b359	30f84a45-9998-47d3-87da-030f357d928e	g.chr6:99955361T>C	ENST00000327681.6	-	4	852	c.320A>G	c.(319-321)aAg>aGg	p.K107R	USP45_ENST00000369233.2_Missense_Mutation_p.K107R|USP45_ENST00000500704.2_Missense_Mutation_p.K107R|USP45_ENST00000392738.2_5'UTR|USP45_ENST00000369232.2_5'UTR|USP45_ENST00000329966.6_Missense_Mutation_p.K107R|USP45_ENST00000369231.3_Missense_Mutation_p.K107R|USP45_ENST00000472914.2_Missense_Mutation_p.K107R	NM_001080481.1	NP_001073950.1	Q70EL2	UBP45_HUMAN	ubiquitin specific peptidase 45	107					protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(6)|lung(2)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	22		all_cancers(76;0.000208)|Acute lymphoblastic leukemia(125;8.41e-11)|all_hematologic(75;2.56e-07)|all_epithelial(107;0.122)|Colorectal(196;0.133)		BRCA - Breast invasive adenocarcinoma(108;0.0718)		TCTGGAACTCTTAAAGTGCTT	0.333																																						ENST00000327681.6																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(6)|lung(2)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	22						c.(319-321)aAg>aGg		ubiquitin specific peptidase 45							134	137	136					6																	99955361		2202	4298	6500	SO:0001583	missense	85015				ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity|zinc ion binding	g.chr6:99955361T>C	AL832030	CCDS34501.1	6q16.2	2008-02-05	2005-08-08		ENSG00000123552	ENSG00000123552		"Ubiquitin-specific peptidases"	20080	protein-coding gene	gene with protein product			"ubiquitin specific protease 45"			12838346	Standard	NM_001080481		Approved	MGC14793	uc003ppx.2	Q70EL2	OTTHUMG00000015267	ENST00000327681.6:c.320A>G	6.37:g.99955361T>C	ENSP00000333376:p.Lys107Arg					USP45_ENST00000392738.2_5'UTR|USP45_ENST00000472914.2_Missense_Mutation_p.K107R|USP45_ENST00000369233.2_Missense_Mutation_p.K107R|USP45_ENST00000369231.3_Missense_Mutation_p.K107R|USP45_ENST00000369232.2_5'UTR|USP45_ENST00000500704.2_Missense_Mutation_p.K107R|USP45_ENST00000329966.5_Missense_Mutation_p.K107R	p.K107R	NM_001080481.1	NP_001073950.1	Q70EL2	UBP45_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0718)	4	852	-		all_cancers(76;0.000208)|Acute lymphoblastic leukemia(125;8.41e-11)|all_hematologic(75;2.56e-07)|all_epithelial(107;0.122)|Colorectal(196;0.133)	107					B2RXG0|Q5T062|Q86T44|Q86TC0|Q9BRU1	Missense_Mutation	SNP	ENST00000327681.6	37	c.320A>G	CCDS34501.1	.	.	.	.	.	.	.	.	.	.	T	8.650	0.897982	0.17686	.	.	ENSG00000123552	ENST00000500704;ENST00000327681;ENST00000369233;ENST00000329966;ENST00000472914;ENST00000369231	T;T;T;T;T;T	0.44482	0.92;0.92;0.92;0.92;0.92;0.92	5.57	-0.962	0.10333	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, UBP-type (2);	0.413868	0.28572	N	0.014879	T	0.08802	0.0218	L	0.28458	0.855	0.26434	N	0.975898	B;B	0.16802	0.005;0.019	B;B	0.16289	0.01;0.015	T	0.34775	-0.9815	10	0.20519	T	0.43	.	5.8949	0.18933	0.0:0.2819:0.1283:0.5898	.	107;107	D6RBV3;Q70EL2	.;UBP45_HUMAN	R	107	ENSP00000424372:K107R;ENSP00000333376:K107R;ENSP00000358236:K107R;ENSP00000330540:K107R;ENSP00000423993:K107R;ENSP00000358234:K107R	ENSP00000333376:K107R	K	-	2	0	USP45	100062082	0.999000	0.42202	0.635000	0.29338	0.256000	0.26092	2.580000	0.46068	-0.155000	0.11098	-0.263000	0.10527	AAG		0.333	USP45-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041609.2	NM_032929		3	70	0	0	0	1	0	3	70					C	99955361	T	C	99955361	3	2	91	1	0	0	0	0	1	0	0	0	17073	1609	56	4	2184	4	USP45	6	99955361	Missense_Mutation	SNP	T	TCGA-EJ-7330-01A-11D-2114-08	50289789	99955361	71159706	19	4664											
AHI1	54806	broad.mit.edu	37	chr6	135787164	135787164	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcatcctcttctaaatcagtCtcttctcttccctcatttgc	6	18	2	15	0	7	0	3	0	4	0	11	0	9	0	2	0	1	0	2	0	2	5			TCGA-EJ-7330-01A-11D-2114-08	TCGA-EJ-7330-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	478b235e-7e7f-4dbb-810b-44a50240b359	30f84a45-9998-47d3-87da-030f357d928e	g.chr6:135787164C>A	ENST00000367800.4	-	5	753	c.537G>T	c.(535-537)gaG>gaT	p.E179D	AHI1_ENST00000327035.6_Missense_Mutation_p.E179D|AHI1_ENST00000457866.2_Missense_Mutation_p.E179D	NM_001134830.1	NP_001128302.1	Q8N157	AHI1_HUMAN	Abelson helper integration site 1	179	Interaction with HAP1.				cellular protein localization (GO:0034613)|central nervous system development (GO:0007417)|cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|cloaca development (GO:0035844)|heart looping (GO:0001947)|hindbrain development (GO:0030902)|Kupffer's vesicle development (GO:0070121)|left/right axis specification (GO:0070986)|morphogenesis of a polarized epithelium (GO:0001738)|negative regulation of apoptotic process (GO:0043066)|otic vesicle development (GO:0071599)|photoreceptor cell outer segment organization (GO:0035845)|positive regulation of polarized epithelial cell differentiation (GO:0030862)|positive regulation of receptor internalization (GO:0002092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|pronephric duct morphogenesis (GO:0039023)|pronephric nephron tubule morphogenesis (GO:0039008)|protein localization to organelle (GO:0033365)|regulation of behavior (GO:0050795)|retina layer formation (GO:0010842)|specification of axis polarity (GO:0065001)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vesicle targeting (GO:0006903)|vesicle-mediated transport (GO:0016192)	adherens junction (GO:0005912)|cell-cell junction (GO:0005911)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|nonmotile primary cilium (GO:0031513)|photoreceptor outer segment (GO:0001750)|primary cilium (GO:0072372)|TCTN-B9D complex (GO:0036038)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)	37	Breast(56;0.239)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00904)|OV - Ovarian serous cystadenocarcinoma(155;0.00991)		CTAAATCAGTCTCTTCTCTTC	0.393																																						ENST00000367800.4																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)	37						c.(535-537)gaG>gaT		Abelson helper integration site 1							262	236	245					6																	135787164		1926	4121	6047	SO:0001583	missense	54806					adherens junction|cilium|microtubule basal body		g.chr6:135787164C>A	AJ459824	CCDS47483.1, CCDS47484.1	6q23.2	2013-01-10	2005-11-29		ENSG00000135541	ENSG00000135541		"WD repeat domain containing"	21575	protein-coding gene	gene with protein product	"Jouberin"	608894	"Abelson helper integration site"			15060101, 16240161	Standard	NM_017651		Approved	FLJ20069, ORF1, JBTS3	uc003qgj.3	Q8N157	OTTHUMG00000015631	ENST00000367800.4:c.537G>T	6.37:g.135787164C>A	ENSP00000356774:p.Glu179Asp					AHI1_ENST00000327035.6_Missense_Mutation_p.E179D|AHI1_ENST00000457866.2_Missense_Mutation_p.E179D	p.E179D	NM_001134830.1	NP_001128302.1	Q8N157	AHI1_HUMAN		GBM - Glioblastoma multiforme(68;0.00904)|OV - Ovarian serous cystadenocarcinoma(155;0.00991)	5	753	-	Breast(56;0.239)|Colorectal(23;0.24)		179					E1P584|Q4FD35|Q504T3|Q5TCP9|Q6P098|Q6PIT6|Q8NDX0|Q9H0H2	Missense_Mutation	SNP	ENST00000367800.4	37	c.537G>T	CCDS47483.1	.	.	.	.	.	.	.	.	.	.	C	8.741	0.918897	0.17982	.	.	ENSG00000135541	ENST00000367800;ENST00000457866;ENST00000265602;ENST00000327035;ENST00000367801;ENST00000524469	T;T;T;T;T	0.57273	0.41;0.41;0.41;1.46;0.89	5.69	-6.2	0.02072	.	1.020860	0.07814	N	0.958672	T	0.07188	0.0182	N	0.08118	0	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.19484	-1.0304	10	0.15066	T	0.55	-1.8649	2.1716	0.03851	0.2547:0.3911:0.1388:0.2154	.	179;179	Q8N157-2;Q8N157	.;AHI1_HUMAN	D	179;179;179;179;179;161	ENSP00000356774:E179D;ENSP00000388650:E179D;ENSP00000265602:E179D;ENSP00000322478:E179D;ENSP00000433063:E161D	ENSP00000265602:E179D	E	-	3	2	AHI1	135828857	0.000000	0.05858	0.001000	0.08648	0.020000	0.10135	-1.799000	0.01746	-0.534000	0.06315	-0.271000	0.10264	GAG		0.393	AHI1-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391948.1	NM_017651		9	55	1	0	0.00621372	1	0.00648785	9	55					A	135787164	C	A	135787164	3	1	91	1	0	0	0	0	1	0	0	0	413	912	32	5	3202	5	AHI1	6	135787164	Missense_Mutation	SNP	C	TCGA-EJ-7330-01A-11D-2114-08	35831803	135787164	35327903	20	4665											
IL20RA	53832	broad.mit.edu	37	chr6	137329811	137329811	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgggacgaaggactccacgtGtacgcagtaaagagtgttcg	11	8	14	8	4	0	1	0	0	0	1	2	4	1	3	1	2	1	4	1	2	4	3			TCGA-EJ-7330-01A-11D-2114-08	TCGA-EJ-7330-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	478b235e-7e7f-4dbb-810b-44a50240b359	30f84a45-9998-47d3-87da-030f357d928e	g.chr6:137329811G>A	ENST00000316649.5	-	5	884	c.649C>T	c.(649-651)Cac>Tac	p.H217Y	IL20RA_ENST00000367748.1_Missense_Mutation_p.H106Y|IL20RA_ENST00000541547.1_Missense_Mutation_p.H168Y|IL20RA_ENST00000468393.1_5'UTR	NM_001278722.1|NM_014432.2	NP_001265651.1|NP_055247	Q9UHF4	I20RA_HUMAN	interleukin 20 receptor, alpha	217	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cytokine-mediated signaling pathway (GO:0019221)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|regulation of bone resorption (GO:0045124)	integral component of membrane (GO:0016021)				NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	27	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000351)|OV - Ovarian serous cystadenocarcinoma(155;0.00459)		GACTCCACGTGTACGCAGTAA	0.532																																						ENST00000367748.1																			0				NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						c.(316-318)Cac>Tac		interleukin 20 receptor, alpha							94	84	87					6																	137329811		2203	4300	6503	SO:0001583	missense	53832					integral to membrane	receptor activity	g.chr6:137329811G>A	AF184971	CCDS5181.1, CCDS64535.1, CCDS64536.1	6q23.3	2008-02-05			ENSG00000016402	ENSG00000016402		"Interleukins and interleukin receptors"	6003	protein-coding gene	gene with protein product		605620				10875937, 11163236	Standard	NM_001278724		Approved	ZCYTOR7, IL-20R1	uc003qhj.3	Q9UHF4	OTTHUMG00000015654	ENST00000316649.5:c.649C>T	6.37:g.137329811G>A	ENSP00000314976:p.His217Tyr					IL20RA_ENST00000541547.1_Missense_Mutation_p.H168Y|IL20RA_ENST00000316649.5_Missense_Mutation_p.H217Y|IL20RA_ENST00000468393.1_5'UTR	p.H106Y			Q9UHF4	I20RA_HUMAN		GBM - Glioblastoma multiforme(68;0.000351)|OV - Ovarian serous cystadenocarcinoma(155;0.00459)	4	902	-	Colorectal(23;0.24)		217			Fibronectin type-III 1.		B4DLR5|F5H675|Q14CW2|Q6UWA9|Q96SH8	Missense_Mutation	SNP	ENST00000316649.5	37	c.316C>T	CCDS5181.1	.	.	.	.	.	.	.	.	.	.	G	0.653	-0.808860	0.02819	.	.	ENSG00000016402	ENST00000316649;ENST00000367748;ENST00000541547	T;T;T	0.42900	1.57;0.96;1.57	5.82	2.72	0.32119	Fibronectin, type III (1);Interferon alpha/beta receptor, beta chain (1);Immunoglobulin-like fold (1);	2.065740	0.01675	N	0.025858	T	0.18551	0.0445	L	0.36672	1.1	0.09310	N	1	B;P	0.39601	0.399;0.68	B;B	0.38880	0.134;0.284	T	0.15378	-1.0439	10	0.45353	T	0.12	2.527	7.8294	0.29334	0.0:0.1302:0.4272:0.4426	.	106;217	Q9UHF4-2;Q9UHF4	.;I20RA_HUMAN	Y	217;106;168	ENSP00000314976:H217Y;ENSP00000356722:H106Y;ENSP00000437843:H168Y	ENSP00000314976:H217Y	H	-	1	0	IL20RA	137371504	0.674000	0.27549	0.000000	0.03702	0.503000	0.33858	2.717000	0.47227	0.763000	0.33175	0.650000	0.86243	CAC		0.532	IL20RA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042393.1	NM_014432		4	118	0	0	0	1	0	4	118					A	137329811	G	A	137329811	3	1	91	1	0	0	0	0	1	0	0	0	7668	1377	48	3	1024	3	IL20RA	6	137329811	Missense_Mutation	SNP	G	TCGA-EJ-7330-01A-11D-2114-08	1542647	137329811	33785256	21	4666											
TNRC18	84629	broad.mit.edu	37	chr7	5352528	5352530	+	In_Frame_Del	DEL	GAG	GAG	-																															tggaggaagaagaggaggaaGaggaggaggaggaggaggat																								rs376153797		TCGA-EJ-7330-01A-11D-2114-08	TCGA-EJ-7330-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	478b235e-7e7f-4dbb-810b-44a50240b359	30f84a45-9998-47d3-87da-030f357d928e	g.chr7:5352528_5352530delGAG	ENST00000430969.1	-	27	8340_8342	c.7992_7994delCTC	c.(7990-7995)tcctct>tct	p.2664_2665SS>S	TNRC18_ENST00000399537.4_In_Frame_Del_p.2664_2665SS>S	NM_001080495.2	NP_001073964.2	O15417	TNC18_HUMAN	trinucleotide repeat containing 18	2664	Ser-rich.						chromatin binding (GO:0003682)	p.S2671delS(2)|p.P1177delP(1)		central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)	11		Ovarian(82;0.142)		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)		agaggaggaagaggaggaggagg	0.64																																						ENST00000399537.4																			3	Deletion - In frame(3)	p.S2671delS(2)|p.P1177delP(1)	prostate(3)	central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)	11						c.(7990-7995)tct>tc		trinucleotide repeat containing 18				64,3888		3,58,1915						-4.8	0.9			7	110,7474		3,104,3685	no	coding	TNRC18	NM_001080495.2		6,162,5600	A1A1,A1R,RR		1.4504,1.6194,1.5083				174,11362				SO:0001651	inframe_deletion	84629						DNA binding	g.chr7:5352528_5352530delGAG	U80753	CCDS47534.1	7p22.1	2012-04-17			ENSG00000182095	ENSG00000182095		"Trinucleotide (CAG) repeat containing"	11962	protein-coding gene	gene with protein product						9225980	Standard	NM_001080495		Approved	CAGL79, TNRC18A, KIAA1856	uc003soi.4	O15417	OTTHUMG00000151831	ENST00000430969.1:c.7992_7994delCTC	7.37:g.5352537_5352539delGAG	ENSP00000395538:p.Ser2671del					TNRC18_ENST00000430969.1_In_Frame_Del_p.SS2670del	p.SS2670del			O15417	TNC18_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)	27	8340_8342	-		Ovarian(82;0.142)	2670			Ser-rich.		A8MX41|Q96JH1|Q96K91	In_Frame_Del	DEL	ENST00000430969.1	37	c.7992_7994delCTC	CCDS47534.1																																																																																				0.64	TNRC18-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding				3	6						3	6	---	---	---	---	-	5352530	GAG	-	5352528	7	5	91	1	0	1	0	1	0	0	0	0	16336	942	33	0	928	0	TNRC18	7	5352528	In_Frame_Del	DEL	GAG	TCGA-EJ-7330-01A-11D-2114-08		5352528	153786135	22	4667											
TNRC18	84629	broad.mit.edu	37	chr7	5427648	5427648	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cttgccacagccaccagggcGcacggccacggcgtcccggg	6	3	14	18	5	0	0	0	0	0	0	1	0	1	0	5	4	2	1	5	4	0	1			TCGA-EJ-7330-01A-11D-2114-08	TCGA-EJ-7330-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	478b235e-7e7f-4dbb-810b-44a50240b359	30f84a45-9998-47d3-87da-030f357d928e	g.chr7:5427648G>A	ENST00000430969.1	-	5	2155	c.1807C>T	c.(1807-1809)Cgc>Tgc	p.R603C	TNRC18_ENST00000399537.4_Missense_Mutation_p.R603C	NM_001080495.2	NP_001073964.2	O15417	TNC18_HUMAN	trinucleotide repeat containing 18	603							chromatin binding (GO:0003682)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)	11		Ovarian(82;0.142)		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)		CCACCAGGGCGCACGGCCACG	0.672																																						ENST00000399537.4																			0				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)	11						c.(1807-1809)Cgc>Tgc		trinucleotide repeat containing 18							6	8	8					7																	5427648		1981	4095	6076	SO:0001583	missense	84629						DNA binding	g.chr7:5427648G>A	U80753	CCDS47534.1	7p22.1	2012-04-17			ENSG00000182095	ENSG00000182095		"Trinucleotide (CAG) repeat containing"	11962	protein-coding gene	gene with protein product						9225980	Standard	NM_001080495		Approved	CAGL79, TNRC18A, KIAA1856	uc003soi.4	O15417	OTTHUMG00000151831	ENST00000430969.1:c.1807C>T	7.37:g.5427648G>A	ENSP00000395538:p.Arg603Cys					TNRC18_ENST00000430969.1_Missense_Mutation_p.R603C	p.R603C			O15417	TNC18_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)	5	2155	-		Ovarian(82;0.142)	603					A8MX41|Q96JH1|Q96K91	Missense_Mutation	SNP	ENST00000430969.1	37	c.1807C>T	CCDS47534.1	.	.	.	.	.	.	.	.	.	.	g	14.01	2.406990	0.42715	.	.	ENSG00000182095	ENST00000399537;ENST00000430969;ENST00000413081	T;T	0.13538	2.58;2.58	4.83	4.83	0.62350	.	.	.	.	.	T	0.26484	0.0647	L	0.29908	0.895	0.48040	D	0.999573	D	0.89917	1.0	D	0.72075	0.976	T	0.03017	-1.1082	9	0.87932	D	0	.	16.1212	0.81359	0.0:0.0:1.0:0.0	.	603	O15417	TNC18_HUMAN	C	603;603;5	ENSP00000382452:R603C;ENSP00000395538:R603C	ENSP00000382452:R603C	R	-	1	0	TNRC18	5394174	1.000000	0.71417	1.000000	0.80357	0.905000	0.53344	6.271000	0.72569	2.222000	0.72286	0.556000	0.70494	CGC		0.672	TNRC18-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding				3	9	0	0	0	1	0	3	9					A	5427648	G	A	5427648	3	1	91	1	0	0	0	0	1	0	0	0	16336	1087	38	1	7203	1	TNRC18	7	5427648	Missense_Mutation	SNP	G	TCGA-EJ-7330-01A-11D-2114-08	75120	5427648	153711015	23	4668											
CDK13	8621	broad.mit.edu	37	chr7	40085626	40085626	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atatccttctaaataataggTatgggtatgaactttatata	15	16	6	4	0	1	1	0	1	1	0	2	1	2	1	1	2	1	2	1	2	11	11			TCGA-EJ-7330-01A-11D-2114-08	TCGA-EJ-7330-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	478b235e-7e7f-4dbb-810b-44a50240b359	30f84a45-9998-47d3-87da-030f357d928e	g.chr7:40085626T>C	ENST00000181839.4	+	6	3148		c.e6+2		CDK13_ENST00000484589.1_Splice_Site|CDK13_ENST00000340829.5_Splice_Site	NM_003718.4|NM_031267.3	NP_003709.3|NP_112557.2	Q14004	CDK13_HUMAN	cyclin-dependent kinase 13						alternative mRNA splicing, via spliceosome (GO:0000380)|hemopoiesis (GO:0030097)|multicellular organismal development (GO:0007275)|phosphorylation of RNA polymerase II C-terminal domain (GO:0070816)|positive regulation of cell proliferation (GO:0008284)|regulation of mitosis (GO:0007088)|viral process (GO:0016032)	cyclin K-CDK13 complex (GO:0002945)|extracellular space (GO:0005615)|nuclear cyclin-dependent protein kinase holoenzyme complex (GO:0019908)|nuclear speck (GO:0016607)	ATP binding (GO:0005524)|cyclin binding (GO:0030332)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(2)|prostate(2)|skin(5)|stomach(2)|urinary_tract(1)	49						AAATAATAGGTATGGGTATGA	0.373																																						ENST00000181839.4																			0				cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(2)|prostate(2)|skin(5)|stomach(2)|urinary_tract(1)	49						c.e6+2		cyclin-dependent kinase 13							65	71	69					7																	40085626		2203	4298	6501	SO:0001630	splice_region_variant	8621				alternative nuclear mRNA splicing, via spliceosome|hemopoiesis|interspecies interaction between organisms|phosphorylation of RNA polymerase II C-terminal domain|positive regulation of cell proliferation|regulation of mitosis	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity	g.chr7:40085626T>C	M80629	CCDS5461.1, CCDS5462.1	7p14.1	2011-11-08	2009-12-16	2009-12-16	ENSG00000065883	ENSG00000065883		"Cyclin-dependent kinases"	1733	protein-coding gene	gene with protein product	"cholinesterase-related cell division controller"	603309	"cell division cycle 2-like 5 (cholinesterase-related cell division controller)"	CDC2L5		1731328, 19884882	Standard	NM_003718		Approved	CHED, CDC2L, KIAA1791	uc003thh.4	Q14004	OTTHUMG00000023726	ENST00000181839.4:c.2543+2T>C	7.37:g.40085626T>C						CDK13_ENST00000340829.5_Splice_Site|CDK13_ENST00000484589.1_Splice_Site		NM_003718.4|NM_031267.3	NP_003709.3|NP_112557.2	Q14004	CDK13_HUMAN			6	3148	+								Q53G78|Q6DKQ9|Q75MH4|Q75MH5|Q96JN4|Q9H4A0|Q9H4A1|Q9UDR4	Splice_Site	SNP	ENST00000181839.4	37		CCDS5461.1	.	.	.	.	.	.	.	.	.	.	T	11.03	1.517823	0.27211	.	.	ENSG00000065883	ENST00000181839;ENST00000340829	.	.	.	4.52	4.52	0.55395	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.0031	0.64446	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	CDK13	40052151	1.000000	0.71417	1.000000	0.80357	0.024000	0.10985	7.868000	0.87116	1.892000	0.54788	0.477000	0.44152	.		0.373	CDK13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250726.2	NM_003718	Intron	31	101	0	0	0	1	0	31	101					C	40085626	T	C	40085626	5	2	91	1	0	0	0	0	0	0	1	0	3129	1652	57	4	2567	4	CDK13	7	40085626	Splice_Site	SNP	T	TCGA-EJ-7330-01A-11D-2114-08	34657978	40085626	119053037	24	4669											
DDC	1644	broad.mit.edu	37	chr7	50607643	50607643	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccgatgcagccaatggccccGcacagcatgtccgcaagcat	10	5	10	16	3	0	0	0	0	0	0	1	1	1	0	5	1	4	5	5	1	2	0			TCGA-EJ-7330-01A-11D-2114-08	TCGA-EJ-7330-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	478b235e-7e7f-4dbb-810b-44a50240b359	30f84a45-9998-47d3-87da-030f357d928e	g.chr7:50607643G>A	ENST00000444124.2	-	3	485	c.285C>T	c.(283-285)tgC>tgT	p.C95C	DDC_ENST00000489162.1_5'UTR|DDC_ENST00000426377.1_Intron|DDC_ENST00000357936.5_Silent_p.C95C|DDC_ENST00000380984.4_Silent_p.C95C|AC018705.5_ENST00000454521.1_RNA|DDC_ENST00000431062.1_Silent_p.C95C	NM_001082971.1	NP_001076440	P20711	DDC_HUMAN	dopa decarboxylase (aromatic L-amino acid decarboxylase)	95	2 X approximate tandem repeats.				catecholamine biosynthetic process (GO:0042423)|cellular amino acid metabolic process (GO:0006520)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to alkaloid (GO:0071312)|cellular response to drug (GO:0035690)|cellular response to growth factor stimulus (GO:0071363)|circadian rhythm (GO:0007623)|dopamine biosynthetic process (GO:0042416)|indolalkylamine biosynthetic process (GO:0046219)|isoquinoline alkaloid metabolic process (GO:0033076)|multicellular organismal aging (GO:0010259)|phytoalexin metabolic process (GO:0052314)|response to pyrethroid (GO:0046684)|serotonin biosynthetic process (GO:0042427)|small molecule metabolic process (GO:0044281)|synaptic vesicle amine transport (GO:0015842)	axon (GO:0030424)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|neuronal cell body (GO:0043025)|synaptic vesicle (GO:0008021)	amino acid binding (GO:0016597)|aromatic-L-amino-acid decarboxylase activity (GO:0004058)|enzyme binding (GO:0019899)|L-dopa decarboxylase activity (GO:0036468)|pyridoxal phosphate binding (GO:0030170)			breast(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(23)|ovary(4)|skin(2)|stomach(1)	40	Glioma(55;0.08)|all_neural(89;0.245)				Amantadine(DB00915)|Carbidopa(DB00190)|Cycloserine(DB00260)|Droxidopa(DB06262)|Flupentixol(DB00875)|L-DOPA(DB01235)|L-Tryptophan(DB00150)|Methyldopa(DB00968)	CAATGGCCCCGCACAGCATGT	0.657																																						ENST00000444124.2																			0				breast(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(23)|ovary(4)|skin(2)|stomach(1)	40						c.(283-285)tgC>tgT		dopa decarboxylase (aromatic L-amino acid decarboxylase)	Amantadine(DB00915)|Carbidopa(DB00190)|Flupenthixol(DB00875)|L-Tryptophan(DB00150)|Levodopa(DB01235)|Pimozide(DB01100)|Pyridoxal Phosphate(DB00114)|Remoxipride(DB00409)						85	70	75					7																	50607643		2200	4300	6500	SO:0001819	synonymous_variant	1644				cellular amino acid metabolic process|hormone biosynthetic process|neurotransmitter secretion	cytosol	aromatic-L-amino-acid decarboxylase activity|protein binding|pyridoxal phosphate binding	g.chr7:50607643G>A		CCDS5511.1, CCDS56485.1, CCDS56486.1, CCDS56487.1, CCDS75598.1, CCDS75599.1	7p12.1	2012-08-30			ENSG00000132437	ENSG00000132437	4.1.1.28		2719	protein-coding gene	gene with protein product		107930				1612608	Standard	NM_001082971		Approved	AADC	uc003tpf.4	P20711	OTTHUMG00000023353	ENST00000444124.2:c.285C>T	7.37:g.50607643G>A						DDC_ENST00000357936.5_Silent_p.C95C|AC018705.5_ENST00000454521.1_RNA|DDC_ENST00000426377.1_Intron|DDC_ENST00000489162.1_5'UTR|DDC_ENST00000380984.4_Silent_p.C95C|DDC_ENST00000431062.1_Silent_p.C95C	p.C95C	NM_001082971.1	NP_001076440.1	P20711	DDC_HUMAN			3	485	-	Glioma(55;0.08)|all_neural(89;0.245)		95			2 X approximate tandem repeats.		C9IYA0|E7ER62|E7EU95|Q16723|Q5W5T9|Q75MJ6	Silent	SNP	ENST00000444124.2	37	c.285C>T	CCDS5511.1	.	.	.	.	.	.	.	.	.	.	G	6.910	0.537537	0.13188	.	.	ENSG00000132437	ENST00000430300	.	.	.	5.5	-11.0	0.00169	.	.	.	.	.	T	0.64148	0.2572	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.78135	-0.2322	4	.	.	.	-24.2793	19.3203	0.94236	0.8301:0.0:0.0923:0.0776	.	.	.	.	V	61	.	.	A	-	2	0	DDC	50575137	0.003000	0.15002	0.085000	0.20634	0.690000	0.40134	-0.750000	0.04808	-2.864000	0.00326	-1.202000	0.01658	GCG		0.657	DDC-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342593.1			16	29	0	0	0	1	0	16	29					A	50607643	G	A	50607643	2	1	91	1	0	0	0	0	0	0	0	1	4325	1079	38	1		1	DDC	7	50607643	Silent	SNP	G	TCGA-EJ-7330-01A-11D-2114-08	10522017	50607643	108531020	25	4670											
ZNF92	168374	broad.mit.edu	37	chr7	64864202	64864202	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	taaacataaaagaattcataCgggagaaaaaccctacaaat	22	7	5	7	1	1	2	1	0	0	2	1	3	1	2	1	1	4	0	1	1	10	5			TCGA-EJ-7330-01A-11D-2114-08	TCGA-EJ-7330-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	478b235e-7e7f-4dbb-810b-44a50240b359	30f84a45-9998-47d3-87da-030f357d928e	g.chr7:64864202C>T	ENST00000328747.7	+	4	1374	c.1175C>T	c.(1174-1176)aCg>aTg	p.T392M	ZNF92_ENST00000431504.1_Missense_Mutation_p.T316M|ZNF92_ENST00000357512.2_Missense_Mutation_p.T360M|ZNF92_ENST00000450302.2_Missense_Mutation_p.T323M	NM_152626.2	NP_689839.1	Q03936	ZNF92_HUMAN	zinc finger protein 92	392					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|large_intestine(3)|lung(4)|pancreas(1)|skin(1)|stomach(1)	13		Lung NSC(55;0.159)				AGAATTCATACGGGAGAAAAA	0.373																																						ENST00000328747.7																			0				breast(2)|endometrium(1)|large_intestine(3)|lung(4)|pancreas(1)|skin(1)|stomach(1)	13						c.(1174-1176)aCg>aTg		zinc finger protein 92							36	40	38					7																	64864202		2192	4295	6487	SO:0001583	missense	168374					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr7:64864202C>T	M61872	CCDS34646.1, CCDS47596.1, CCDS75608.1, CCDS75609.1	7q11.21	2013-01-08	2006-05-12		ENSG00000146757	ENSG00000146757		"Zinc fingers, C2H2-type", "-"	13168	protein-coding gene	gene with protein product		603974	"zinc finger protein 92 (HTF12)"			8467795	Standard	NM_001287533		Approved	HPF12, TF12	uc003ttz.3	Q03936	OTTHUMG00000156557	ENST00000328747.7:c.1175C>T	7.37:g.64864202C>T	ENSP00000332595:p.Thr392Met					ZNF92_ENST00000450302.2_Missense_Mutation_p.T323M|ZNF92_ENST00000431504.1_Missense_Mutation_p.T316M|ZNF92_ENST00000357512.2_Missense_Mutation_p.T360M	p.T392M	NM_152626.2	NP_689839.1	Q03936	ZNF92_HUMAN			4	1374	+		Lung NSC(55;0.159)	392					A6NNF9|Q8N492|Q8NB35	Missense_Mutation	SNP	ENST00000328747.7	37	c.1175C>T	CCDS34646.1	.	.	.	.	.	.	.	.	.	.	C	15.31	2.796816	0.50208	.	.	ENSG00000146757	ENST00000328747;ENST00000431504;ENST00000357512;ENST00000450302	T;T;T;T	0.26373	1.74;1.74;1.74;1.74	0.418	0.418	0.16429	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.40423	0.1116	M	0.63843	1.955	0.36814	D	0.886064	D;D	0.76494	0.969;0.999	B;D	0.70487	0.368;0.969	T	0.45745	-0.9240	9	0.66056	D	0.02	.	6.6212	0.22804	0.0:0.9999:0.0:1.0E-4	.	360;392	Q03936-3;Q03936	.;ZNF92_HUMAN	M	392;316;360;323	ENSP00000332595:T392M;ENSP00000400495:T316M;ENSP00000350113:T360M;ENSP00000396126:T323M	ENSP00000332595:T392M	T	+	2	0	ZNF92	64501637	0.891000	0.30450	0.266000	0.24541	0.258000	0.26162	2.058000	0.41374	0.452000	0.26830	0.460000	0.39030	ACG		0.373	ZNF92-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000344589.2	NM_152626		13	82	0	0	0	1	0	13	82					T	64864202	C	T	64864202	3	4	91	1	0	0	0	0	1	0	0	0	18198	536	19	1	1189	1	ZNF92	7	64864202	Missense_Mutation	SNP	C	TCGA-EJ-7330-01A-11D-2114-08	14256559	64864202	94274461	26	4671											
GATS	352954	broad.mit.edu	37	chr7	99821642	99821642	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgccaccgccggacaccaCgttcagggccagccaggtgg	7	4	14	16	3	1	0	1	0	0	0	1	1	1	1	6	4	2	2	6	4	0	1			TCGA-EJ-7330-01A-11D-2114-08	TCGA-EJ-7330-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	478b235e-7e7f-4dbb-810b-44a50240b359	30f84a45-9998-47d3-87da-030f357d928e	g.chr7:99821642C>T	ENST00000436886.2	-	3	522	c.274G>A	c.(274-276)Gtg>Atg	p.V92M	GATS_ENST00000543273.1_RNA	NM_178831.6	NP_849153.3	Q8NAP1	GATS_HUMAN	GATS, stromal antigen 3 opposite strand	92										endometrium(2)|large_intestine(2)|lung(4)	8	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CCGGACACCACGTTCAGGGCC	0.622																																						ENST00000436886.2																			0				endometrium(2)|large_intestine(2)|lung(4)	8						c.(274-276)Gtg>Atg									64	74	70					7																	99821642		2093	4215	6308	SO:0001583	missense	0							g.chr7:99821642C>T	AK095056	CCDS43621.1	7q22.1	2014-08-13	2009-04-08	2009-04-08	ENSG00000160844	ENSG00000239521			29954	protein-coding gene	gene with protein product	"stromal antigen 3 opposite strand"					12477932	Standard	NM_178831		Approved	DKFZp686B07267, STAG3OS	uc003uua.4	Q8NAP1	OTTHUMG00000155289	ENST00000436886.2:c.274G>A	7.37:g.99821642C>T	ENSP00000389760:p.Val92Met					GATS_ENST00000543273.1_RNA	p.V92M	NM_178831.6	NP_849153.3	Q8NAP1	GATS_HUMAN			3	522	-	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		92					D6W5V0|Q68D93|Q6P198|Q6PII7|Q7Z720|Q86UK9	Missense_Mutation	SNP	ENST00000436886.2	37	c.274G>A	CCDS43621.1	.	.	.	.	.	.	.	.	.	.	c	14.38	2.517608	0.44763	.	.	ENSG00000160844	ENST00000436886	.	.	.	1.74	1.74	0.24563	.	0.063315	0.64402	D	0.000006	T	0.80138	0.4568	M	0.91300	3.195	0.39702	D	0.971199	D	0.89917	1.0	D	0.97110	1.0	T	0.82713	-0.0321	9	0.87932	D	0	.	9.5269	0.39169	0.0:1.0:0.0:0.0	.	92	Q8NAP1	GATS_HUMAN	M	92	.	ENSP00000389760:V92M	V	-	1	0	GATS	99659578	1.000000	0.71417	0.985000	0.45067	0.321000	0.28281	6.564000	0.73969	0.906000	0.36621	0.173000	0.16961	GTG		0.622	GATS-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_178831		18	124	0	0	0	1	0	18	124					T	99821642	C	T	99821642	3	4	91	1	0	0	0	0	1	0	0	0	6264	536	19	1	225	1	GATS	7	99821642	Missense_Mutation	SNP	C	TCGA-EJ-7330-01A-11D-2114-08	34957440	99821642	59317021	27	4672											
CNGB3	54714	broad.mit.edu	37	chr8	87645021	87645021	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cacaaaaactccagaaaaaaAattcaagagttgaaaaacaa	25	5	4	7	0	1	3	1	1	0	2	2	3	2	3	1	0	2	1	1	0	10	2			TCGA-EJ-7330-01A-11D-2114-08	TCGA-EJ-7330-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	478b235e-7e7f-4dbb-810b-44a50240b359	30f84a45-9998-47d3-87da-030f357d928e	g.chr8:87645021A>C	ENST00000320005.5	-	11	1326	c.1279T>G	c.(1279-1281)Ttt>Gtt	p.F427V		NM_019098.4	NP_061971.3	Q9NQW8	CNGB3_HUMAN	cyclic nucleotide gated channel beta 3	427					cation transport (GO:0006812)|phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|signal transduction (GO:0007165)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|photoreceptor outer segment (GO:0001750)|transmembrane transporter complex (GO:1902495)	cGMP binding (GO:0030553)|intracellular cAMP activated cation channel activity (GO:0005222)|intracellular cGMP activated cation channel activity (GO:0005223)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(15)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	80						CCAGAAAAAAAATTCAAGAGT	0.358																																						ENST00000320005.5																			0				NS(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(15)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	80						c.(1279-1281)Ttt>Gtt		cyclic nucleotide gated channel beta 3							50	52	51					8																	87645021		2203	4297	6500	SO:0001583	missense	54714				signal transduction|visual perception	integral to membrane	cGMP binding	g.chr8:87645021A>C	AF228520	CCDS6244.1	8q21.3	2013-01-23	2003-06-25		ENSG00000170289	ENSG00000170289		"Voltage-gated ion channels / Cyclic nucleotide-regulated channels"	2153	protein-coding gene	gene with protein product		605080	"achromatopsia (rod monochromacy) 3", "achromatopsia (rod monochromacy) 1"	ACHM3, ACHM1, RMCH		10888875, 10958649, 16382102	Standard	NM_019098		Approved		uc003ydx.3	Q9NQW8	OTTHUMG00000163738	ENST00000320005.5:c.1279T>G	8.37:g.87645021A>C	ENSP00000316605:p.Phe427Val						p.F427V	NM_019098.4	NP_061971.3	Q9NQW8	CNGB3_HUMAN			11	1326	-			427					C9JA51|Q9NRE9	Missense_Mutation	SNP	ENST00000320005.5	37	c.1279T>G	CCDS6244.1	.	.	.	.	.	.	.	.	.	.	A	25.0	4.593553	0.86953	.	.	ENSG00000170289	ENST00000320005	D	0.97303	-4.33	5.12	5.12	0.69794	.	0.289221	0.34362	N	0.004021	D	0.98270	0.9427	M	0.86864	2.845	0.80722	D	1	D;D	0.55800	0.967;0.973	P;P	0.60012	0.84;0.867	D	0.99297	1.0900	10	0.87932	D	0	.	15.2136	0.73247	1.0:0.0:0.0:0.0	.	427;427	Q9NQW8-2;Q9NQW8	.;CNGB3_HUMAN	V	427	ENSP00000316605:F427V	ENSP00000316605:F427V	F	-	1	0	CNGB3	87714137	1.000000	0.71417	0.960000	0.40013	0.992000	0.81027	9.287000	0.95975	2.056000	0.61249	0.482000	0.46254	TTT		0.358	CNGB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375107.1	NM_019098		4	24	0	0	0	1	0	4	24					C	87645021	A	C	87645021	3	2	91	1	0	0	0	0	1	0	0	0	3601	14	1	5	1182	5	CNGB3	8	87645021	Missense_Mutation	SNP	A	TCGA-EJ-7330-01A-11D-2114-08		87645021	58719001	28	4673											
C9orf21	195827	broad.mit.edu	37	chr9	99404081	99404081	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtctgtttgtaaagttcacaTgctgaactcctacaagctgt	10	14	8	9	0	2	1	1	1	1	0	3	1	3	1	1	0	4	5	1	0	5	4			TCGA-EJ-7330-01A-11D-2114-08	TCGA-EJ-7330-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	478b235e-7e7f-4dbb-810b-44a50240b359	30f84a45-9998-47d3-87da-030f357d928e	g.chr9:99404081T>C	ENST00000375234.3	-	6	640	c.641A>G	c.(640-642)cAt>cGt	p.H214R		NM_153698.1	NP_714542.1	Q7RTV5	AAED1_HUMAN	AhpC/TSA antioxidant enzyme domain containing 1	214																	AAAGTTCACATGCTGAACTCC	0.403																																						ENST00000375234.3																			0											c.(640-642)cAt>cGt		AhpC/TSA antioxidant enzyme domain containing 1							122	111	115					9																	99404081		2203	4300	6503	SO:0001583	missense	195827						antioxidant activity|oxidoreductase activity	g.chr9:99404081T>C	BK000255	CCDS35073.1	9q22.32	2013-01-07	2012-03-06	2012-03-06	ENSG00000158122	ENSG00000158122			16881	protein-coding gene	gene with protein product			"chromosome 9 open reading frame 21"	C9orf21			Standard	XM_005251783		Approved		uc004awm.3	Q7RTV5	OTTHUMG00000020299	ENST00000375234.3:c.641A>G	9.37:g.99404081T>C	ENSP00000364382:p.His214Arg						p.H214R	NM_153698.1	NP_714542.1	Q7RTV5	CI021_HUMAN			6	640	-			214					B2RMW4|Q5JU02	Missense_Mutation	SNP	ENST00000375234.3	37	c.641A>G	CCDS35073.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	6.982|6.982	0.551295|0.551295	0.13374|0.13374	.|.	.|.	ENSG00000158122|ENSG00000158122	ENST00000375234;ENST00000375233|ENST00000411939	T|.	0.40756|.	1.02|.	5.28|5.28	-0.256|-0.256	0.12984|0.12984	.|.	0.749007|.	0.13127|.	N|.	0.411767|.	T|T	0.31295|0.31295	0.0792|0.0792	N|N	0.25647|0.25647	0.755|0.755	0.09310|0.09310	N|N	1|1	B|.	0.06786|.	0.001|.	B|.	0.10450|.	0.005|.	T|T	0.30592|0.30592	-0.9973|-0.9973	10|5	0.13108|.	T|.	0.6|.	-0.0111|-0.0111	10.901|10.901	0.47051|0.47051	0.0:0.0745:0.6431:0.2823|0.0:0.0745:0.6431:0.2823	.|.	214|.	Q7RTV5|.	CI021_HUMAN|.	R|V	214;170|98	ENSP00000364382:H214R|.	ENSP00000364381:H170R|.	H|M	-|-	2|1	0|0	C9orf21|C9orf21	98443902|98443902	0.299000|0.299000	0.24426|0.24426	0.258000|0.258000	0.24420|0.24420	0.965000|0.965000	0.64279|0.64279	0.419000|0.419000	0.21247|0.21247	0.097000|0.097000	0.17492|0.17492	-0.321000|-0.321000	0.08615|0.08615	CAT|ATG		0.403	AAED1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053273.1	NM_153698		16	93	0	0	0	1	0	16	93					C	99404081	T	C	99404081	3	2	91	1	0	0	0	0	1	0	0	0	2473	1464	51	4	43	4	C9orf21	9	99404081	Missense_Mutation	SNP	T	TCGA-EJ-7330-01A-11D-2114-08		99404081	41809350	29	4674											
RPP38	10557	broad.mit.edu	37	chr10	15145358	15145358	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gggcggggatctctccgtaaGacgagacctctggttgtgaa	8	9	15	9	3	2	3	0	1	2	2	4	5	3	4	2	4	0	2	2	4	2	2			TCGA-EJ-7330-01A-11D-2114-08	TCGA-EJ-7330-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	478b235e-7e7f-4dbb-810b-44a50240b359	30f84a45-9998-47d3-87da-030f357d928e	g.chr10:15145358G>A	ENST00000378197.4	+	3	559	c.45G>A	c.(43-45)aaG>aaA	p.K15K	RPP38_ENST00000451677.1_Intron|NMT2_ENST00000466201.1_5'UTR|RPP38_ENST00000378202.5_Silent_p.K15K	NM_183005.4	NP_892117.1	P78345	RPP38_HUMAN	ribonuclease P/MRP 38kDa subunit	15					RNA phosphodiester bond hydrolysis (GO:0090501)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|tRNA processing (GO:0008033)	nucleolar ribonuclease P complex (GO:0005655)|nucleus (GO:0005634)	ribonuclease P activity (GO:0004526)			breast(1)|endometrium(3)|large_intestine(1)|lung(2)|ovary(1)	8						CTCTCCGTAAGACGAGACCTC	0.498																																					GBM(118;1591 1611 9649 34378 50720)	ENST00000378197.4																			0				breast(1)|endometrium(3)|large_intestine(1)|lung(2)|ovary(1)	8						c.(43-45)aaG>aaA		ribonuclease P/MRP 38kDa subunit							70	74	73					10																	15145358		2203	4300	6503	SO:0001819	synonymous_variant	10557				tRNA processing	nucleolar ribonuclease P complex	protein binding|ribonuclease P activity	g.chr10:15145358G>A	U77664	CCDS7108.1	10p13	2012-05-21			ENSG00000152464	ENSG00000152464			30329	protein-coding gene	gene with protein product		606116				9037013, 9630247	Standard	NM_183005		Approved		uc001inx.5	P78345	OTTHUMG00000017728	ENST00000378197.4:c.45G>A	10.37:g.15145358G>A						RPP38_ENST00000451677.1_Intron|NMT2_ENST00000466201.1_5'UTR|RPP38_ENST00000378202.5_Silent_p.K15K	p.K15K	NM_183005.4	NP_892117.1	P78345	RPP38_HUMAN			3	559	+			15					B3KPY0|D3DRT8|Q53F71|Q8NHS8	Silent	SNP	ENST00000378197.4	37	c.45G>A	CCDS7108.1																																																																																				0.498	RPP38-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046976.1	NM_006414		13	74	0	0	0	1	0	13	74					A	15145358	G	A	15145358	2	1	91	1	0	0	0	0	0	0	0	1	13613	933	33	3		3	RPP38	10	15145358	Silent	SNP	G	TCGA-EJ-7330-01A-11D-2114-08		15145358	120389389	30	4675											
PTCHD3	374308	broad.mit.edu	37	chr10	27702748	27702748	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcggctgtcagcatcaagggCgccagcaggaagatccaggg	10	4	16	11	2	2	1	2	0	0	1	3	2	3	2	2	4	2	3	2	4	2	0	rs571645965		TCGA-EJ-7330-01A-11D-2114-08	TCGA-EJ-7330-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	478b235e-7e7f-4dbb-810b-44a50240b359	30f84a45-9998-47d3-87da-030f357d928e	g.chr10:27702748C>T	ENST00000438700.3	-	1	549	c.432G>A	c.(430-432)gcG>gcA	p.A144A		NM_001034842.3	NP_001030014.2	Q3KNS1	PTHD3_HUMAN	patched domain containing 3	144					spermatid development (GO:0007286)	integral component of membrane (GO:0016021)|sperm midpiece (GO:0097225)	hedgehog receptor activity (GO:0008158)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	55						GCATCAAGGGCGCCAGCAGGA	0.667																																						ENST00000438700.3																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	55						c.(430-432)gcG>gcA		patched domain containing 3							44	51	48					10																	27702748		2203	4300	6503	SO:0001819	synonymous_variant	374308				spermatid development	integral to membrane	hedgehog receptor activity	g.chr10:27702748C>T	AK126025	CCDS31173.1	10p12.1	2006-05-26			ENSG00000182077	ENSG00000182077			24776	protein-coding gene	gene with protein product		611791					Standard	NM_001034842		Approved	FLJ44037, PTR	uc001itu.2	Q3KNS1	OTTHUMG00000017860	ENST00000438700.3:c.432G>A	10.37:g.27702748C>T							p.A144A	NM_001034842.3	NP_001030014.2	Q3KNS1	PTHD3_HUMAN			1	549	-			144					I3L499|Q6ZU28	Silent	SNP	ENST00000438700.3	37	c.432G>A	CCDS31173.1																																																																																				0.667	PTCHD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047325.3	XM_370541		12	78	0	0	0	1	0	12	78					T	27702748	C	T	27702748	2	4	91	1	0	0	0	0	0	0	0	1	12734	755	27	1		1	PTCHD3	10	27702748	Silent	SNP	C	TCGA-EJ-7330-01A-11D-2114-08	12557390	27702748	107831999	31	4676											
ZMIZ1	57178	broad.mit.edu	37	chr10	81058166	81058166	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cttttctttccctccagcctCccaggccggttcctgtggca	3	13	8	17	1	1	0	0	0	1	0	5	0	5	0	6	3	1	2	6	3	0	4			TCGA-EJ-7330-01A-11D-2114-08	TCGA-EJ-7330-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	478b235e-7e7f-4dbb-810b-44a50240b359	30f84a45-9998-47d3-87da-030f357d928e	g.chr10:81058166C>T	ENST00000334512.5	+	15	2067	c.1495C>T	c.(1495-1497)Ccc>Tcc	p.P499S		NM_020338.3	NP_065071.1	Q9ULJ6	ZMIZ1_HUMAN	zinc finger, MIZ-type containing 1	499	Pro-rich.				artery morphogenesis (GO:0048844)|cell aging (GO:0007569)|developmental growth (GO:0048589)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)|vasculogenesis (GO:0001570)|vitellogenesis (GO:0007296)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1)	30	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)			CCTCCAGCCTCCCAGGCCGGT	0.602																																						ENST00000334512.5																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1)	30						c.(1495-1497)Ccc>Tcc		zinc finger, MIZ-type containing 1							187	191	190					10																	81058166		2203	4300	6503	SO:0001583	missense	57178				transcription, DNA-dependent	cytoplasm|nuclear speck	zinc ion binding	g.chr10:81058166C>T	AB033050	CCDS7357.1	10q22.3	2012-11-30	2006-10-24	2006-10-24	ENSG00000108175	ENSG00000108175		"Zinc fingers, MIZ-type"	16493	protein-coding gene	gene with protein product		607159	"retinoic acid induced 17"	RAI17		15626329	Standard	NM_020338		Approved	RP11-519K18.1, KIAA1224, FLJ13541, hZIMP10, Zimp10, MIZ	uc001kaf.2	Q9ULJ6	OTTHUMG00000018560	ENST00000334512.5:c.1495C>T	10.37:g.81058166C>T	ENSP00000334474:p.Pro499Ser						p.P499S	NM_020338.3	NP_065071.1	Q9ULJ6	ZMIZ1_HUMAN	Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)		15	2067	+	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		499			Pro-rich.		Q5JSH9|Q7Z7E6	Missense_Mutation	SNP	ENST00000334512.5	37	c.1495C>T	CCDS7357.1	.	.	.	.	.	.	.	.	.	.	C	12.63	1.995032	0.35226	.	.	ENSG00000108175	ENST00000334512;ENST00000360331;ENST00000372347	T	0.50548	0.74	5.12	4.1	0.47936	.	0.177059	0.26935	N	0.021753	T	0.26774	0.0655	L	0.29908	0.895	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.15492	-1.0435	10	0.10111	T	0.7	-14.8522	3.3399	0.07115	0.0:0.6058:0.0:0.3941	.	499	Q9ULJ6	ZMIZ1_HUMAN	S	499;429;406	ENSP00000334474:P499S	ENSP00000334474:P499S	P	+	1	0	ZMIZ1	80728172	1.000000	0.71417	1.000000	0.80357	0.924000	0.55760	3.399000	0.52586	2.391000	0.81399	0.462000	0.41574	CCC		0.602	ZMIZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048944.2	NM_020338		41	257	0	0	0	1	0	41	257					T	81058166	C	T	81058166	3	4	91	1	0	0	0	0	1	0	0	0	17693	855	30	3	1537	3	ZMIZ1	10	81058166	Missense_Mutation	SNP	C	TCGA-EJ-7330-01A-11D-2114-08	53355418	81058166	54476581	32	4677											
ALDH18A1	5832	broad.mit.edu	37	chr10	97380889	97380889	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tttggcgattcgggtgcggcGcaaaacacgtcccacgctgt	7	9	13	12	6	0	0	0	0	0	0	2	1	1	0	1	3	2	2	1	3	2	2			TCGA-EJ-7330-01A-11D-2114-08	TCGA-EJ-7330-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	478b235e-7e7f-4dbb-810b-44a50240b359	30f84a45-9998-47d3-87da-030f357d928e	g.chr10:97380889G>A	ENST00000371224.2	-	12	1503	c.1366C>T	c.(1366-1368)Cgc>Tgc	p.R456C	ALDH18A1_ENST00000371221.3_Missense_Mutation_p.R454C	NM_002860.3	NP_002851.2	P54886	P5CS_HUMAN	aldehyde dehydrogenase 18 family, member A1	456	Gamma-glutamyl phosphate reductase.				cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|citrulline biosynthetic process (GO:0019240)|glutamate metabolic process (GO:0006536)|L-proline biosynthetic process (GO:0055129)|ornithine biosynthetic process (GO:0006592)|proline biosynthetic process (GO:0006561)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|glutamate 5-kinase activity (GO:0004349)|glutamate-5-semialdehyde dehydrogenase activity (GO:0004350)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(9)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Colorectal(252;0.0402)		Epithelial(162;9.1e-07)|all cancers(201;2.55e-05)		CGGGTGCGGCGCAAAACACGT	0.537																																						ENST00000371224.2																			0				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(9)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						c.(1366-1368)Cgc>Tgc		aldehyde dehydrogenase 18 family, member A1	L-Glutamic Acid(DB00142)						86	75	79					10																	97380889		2203	4300	6503	SO:0001583	missense	5832				proline biosynthetic process	mitochondrial inner membrane	ATP binding|glutamate 5-kinase activity|glutamate-5-semialdehyde dehydrogenase activity	g.chr10:97380889G>A	X94453	CCDS7443.1, CCDS31257.1	10q24.3-q24.6	2004-08-12	2004-08-12	2004-08-12	ENSG00000059573	ENSG00000059573		"Aldehyde dehydrogenases"	9722	protein-coding gene	gene with protein product		138250	"pyrroline-5-carboxylate synthetase (glutamate gamma-semialdehyde synthetase)"	GSAS, PYCS		8921385	Standard	XM_006717933		Approved	P5CS	uc001kkz.3	P54886	OTTHUMG00000018815	ENST00000371224.2:c.1366C>T	10.37:g.97380889G>A	ENSP00000360268:p.Arg456Cys					ALDH18A1_ENST00000371221.3_Missense_Mutation_p.R454C	p.R456C	NM_002860.3	NP_002851.2	P54886	P5CS_HUMAN		Epithelial(162;9.1e-07)|all cancers(201;2.55e-05)	12	1503	-		Colorectal(252;0.0402)	456			Gamma-glutamyl phosphate reductase.		B2R5Q4|B7Z350|B7Z5X8|B7ZLP1|D3DR44|O95952|Q3KQU2|Q5T566|Q5T567|Q9UM72	Missense_Mutation	SNP	ENST00000371224.2	37	c.1366C>T	CCDS7443.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.201575	0.79015	.	.	ENSG00000059573	ENST00000371224;ENST00000371221	T;T	0.76968	-1.06;-1.06	5.55	5.55	0.83447	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, N-terminal (1);Aldehyde/histidinol dehydrogenase (1);Gamma-glutamyl phosphate reductase GPR (1);	0.000000	0.85682	D	0.000000	D	0.90553	0.7039	M	0.91249	3.19	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.77004	0.989;0.981	D	0.92143	0.5722	10	0.87932	D	0	-15.436	17.3501	0.87321	0.0:0.0:1.0:0.0	.	456;454	P54886;P54886-2	P5CS_HUMAN;.	C	456;454	ENSP00000360268:R456C;ENSP00000360265:R454C	ENSP00000360265:R454C	R	-	1	0	ALDH18A1	97370879	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	4.104000	0.57790	2.773000	0.95371	0.650000	0.86243	CGC		0.537	ALDH18A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049552.1	NM_002860		13	67	0	0	0	1	0	13	67					A	97380889	G	A	97380889	3	1	91	1	0	0	0	0	1	0	0	0	489	1087	38	1	1049	1	ALDH18A1	10	97380889	Missense_Mutation	SNP	G	TCGA-EJ-7330-01A-11D-2114-08	16322723	97380889	38153858	33	4678											
SLC6A5	9152	broad.mit.edu	37	chr11	20676275	20676275	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcagaggctgaagttggtgtGctcgccacagccggactggg	7	7	17	10	2	0	2	0	1	0	1	1	3	0	3	2	4	2	4	2	4	1	1			TCGA-EJ-7330-01A-11D-2114-08	TCGA-EJ-7330-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	478b235e-7e7f-4dbb-810b-44a50240b359	30f84a45-9998-47d3-87da-030f357d928e	g.chr11:20676275G>A	ENST00000525748.1	+	16	2528	c.2255G>A	c.(2254-2256)tGc>tAc	p.C752Y	SLC6A5_ENST00000528440.1_3'UTR	NM_004211.3	NP_004202.2	Q9Y345	SC6A5_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 5	752					glycine import (GO:0036233)|synaptic transmission (GO:0007268)|synaptic transmission, glycinergic (GO:0060012)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	glycine:sodium symporter activity (GO:0015375)|neurotransmitter:sodium symporter activity (GO:0005328)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(34)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	63					Glycine(DB00145)	AAGTTGGTGTGCTCGCCACAG	0.557																																						ENST00000525748.1																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(34)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	63						c.(2254-2256)tGc>tAc		solute carrier family 6 (neurotransmitter transporter), member 5	Glycine(DB00145)						99	98	98					11																	20676275		2203	4300	6503	SO:0001583	missense	9152				synaptic transmission	integral to membrane|plasma membrane	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity	g.chr11:20676275G>A	AF085412	CCDS7854.1	11p15.1	2013-07-19	2013-07-19		ENSG00000165970	ENSG00000165970		"Solute carriers"	11051	protein-coding gene	gene with protein product	"glycine transporter 2"	604159	"solute carrier family 6 (neurotransmitter transporter, glycine), member 5"	NET1		9845349	Standard	NM_004211		Approved	GLYT2	uc001mqd.3	Q9Y345	OTTHUMG00000166024	ENST00000525748.1:c.2255G>A	11.37:g.20676275G>A	ENSP00000434364:p.Cys752Tyr					SLC6A5_ENST00000528440.1_3'UTR	p.C752Y	NM_004211.3	NP_004202.2	Q9Y345	SC6A5_HUMAN			16	2528	+			752					O95288|Q4VAM7|Q9BX77	Missense_Mutation	SNP	ENST00000525748.1	37	c.2255G>A	CCDS7854.1	.	.	.	.	.	.	.	.	.	.	G	23.5	4.419606	0.83559	.	.	ENSG00000165970	ENST00000525748	T	0.72725	-0.68	6.04	6.04	0.98038	.	0.000000	0.85682	D	0.000000	T	0.75413	0.3846	N	0.19112	0.55	0.80722	D	1	D	0.69078	0.997	D	0.64042	0.921	T	0.77970	-0.2387	10	0.87932	D	0	.	20.5948	0.99439	0.0:0.0:1.0:0.0	.	752	Q9Y345	SC6A5_HUMAN	Y	752	ENSP00000434364:C752Y	ENSP00000434364:C752Y	C	+	2	0	SLC6A5	20632851	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.414000	0.97362	2.873000	0.98535	0.563000	0.77884	TGC		0.557	SLC6A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387497.2	NM_004211		4	112	0	0	0	1	0	4	112					A	20676275	G	A	20676275	3	1	91	1	0	0	0	0	1	0	0	0	14687	1319	46	3	2317	3	SLC6A5	11	20676275	Missense_Mutation	SNP	G	TCGA-EJ-7330-01A-11D-2114-08		20676275	114330241	34	4679											
OR4X2	119764	broad.mit.edu	37	chr11	48266787	48266787	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtgctcactgtcatgaccagCagaagccttggttcccccat	8	10	9	14	0	2	2	2	1	0	1	3	2	3	2	4	1	3	3	4	1	1	2			TCGA-EJ-7330-01A-11D-2114-08	TCGA-EJ-7330-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	478b235e-7e7f-4dbb-810b-44a50240b359	30f84a45-9998-47d3-87da-030f357d928e	g.chr11:48266787C>A	ENST00000302329.3	+	1	180	c.132C>A	c.(130-132)agC>agA	p.S44R		NM_001004727.1	NP_001004727.1	Q8NGF9	OR4X2_HUMAN	olfactory receptor, family 4, subfamily X, member 2	44						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|large_intestine(4)|lung(12)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	20						TCATGACCAGCAGAAGCCTTG	0.502																																						ENST00000302329.3																			0				breast(1)|large_intestine(4)|lung(12)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	20						c.(130-132)agC>agA		olfactory receptor, family 4, subfamily X, member 2							200	179	186					11																	48266787		2201	4298	6499	SO:0001583	missense	119764				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:48266787C>A	AB065847	CCDS31486.1	11p11.2	2012-08-09			ENSG00000172208	ENSG00000172208		"GPCR / Class A : Olfactory receptors"	15184	protein-coding gene	gene with protein product							Standard	NM_001004727		Approved		uc001ngs.1	Q8NGF9	OTTHUMG00000165302	ENST00000302329.3:c.132C>A	11.37:g.48266787C>A	ENSP00000307751:p.Ser44Arg						p.S44R	NM_001004727.1	NP_001004727.1	Q8NGF9	OR4X2_HUMAN			1	180	+			44					B2RNK3|Q6IF73|Q96R63	Missense_Mutation	SNP	ENST00000302329.3	37	c.132C>A	CCDS31486.1	.	.	.	.	.	.	.	.	.	.	C	16.47	3.132647	0.56828	.	.	ENSG00000172208	ENST00000302329	T	0.01099	5.34	5.37	3.5	0.40072	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000004	T	0.06050	0.0157	M	0.87547	2.89	0.27547	N	0.95061	D	0.76494	0.999	D	0.70227	0.968	T	0.04565	-1.0942	10	0.87932	D	0	.	6.4363	0.21825	0.0:0.7232:0.0:0.2768	.	44	Q8NGF9	OR4X2_HUMAN	R	44	ENSP00000307751:S44R	ENSP00000307751:S44R	S	+	3	2	OR4X2	48223363	0.000000	0.05858	0.997000	0.53966	0.797000	0.45037	0.024000	0.13555	1.254000	0.44035	0.650000	0.86243	AGC		0.502	OR4X2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383376.2	NM_001004727		14	117	1	0	1.15088e-07	1	1.25711e-07	14	117					A	48266787	C	A	48266787	3	1	91	1	0	0	0	0	1	0	0	0	11085	709	25	5	134	5	OR4X2	11	48266787	Missense_Mutation	SNP	C	TCGA-EJ-7330-01A-11D-2114-08	27590512	48266787	86739729	35	4680											
SAPS3	55291	broad.mit.edu	37	chr11	68315610	68315610	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	taggaacttctgctatcatgGatttgttgctcaggctcctg	7	15	10	9	0	3	0	2	0	1	0	4	2	4	2	1	3	3	4	1	3	3	5			TCGA-EJ-7330-01A-11D-2114-08	TCGA-EJ-7330-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	478b235e-7e7f-4dbb-810b-44a50240b359	30f84a45-9998-47d3-87da-030f357d928e	g.chr11:68315610G>T	ENST00000393800.2	+	5	744	c.490G>T	c.(490-492)Gat>Tat	p.D164Y	PPP6R3_ENST00000265636.5_Missense_Mutation_p.D164Y|PPP6R3_ENST00000393799.2_Missense_Mutation_p.D164Y|PPP6R3_ENST00000393801.3_Missense_Mutation_p.D164Y|PPP6R3_ENST00000527403.2_Missense_Mutation_p.D164Y|PPP6R3_ENST00000265637.4_Missense_Mutation_p.D164Y|PPP6R3_ENST00000524845.1_Missense_Mutation_p.D164Y|PPP6R3_ENST00000534534.1_Missense_Mutation_p.D73Y|PPP6R3_ENST00000524904.1_Missense_Mutation_p.D164Y|PPP6R3_ENST00000529710.1_Missense_Mutation_p.D164Y	NM_001164161.1|NM_001164162.1|NM_001164163.1	NP_001157633.1|NP_001157634.1|NP_001157635.1	Q5H9R7	PP6R3_HUMAN	protein phosphatase 6, regulatory subunit 3	164					regulation of phosphoprotein phosphatase activity (GO:0043666)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein phosphatase binding (GO:0019903)			breast(2)|endometrium(6)|kidney(3)|large_intestine(10)|liver(2)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						TGCTATCATGGATTTGTTGCT	0.428																																						ENST00000393799.2																			0				breast(2)|endometrium(6)|kidney(3)|large_intestine(10)|liver(2)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						c.(490-492)Gat>Tat		protein phosphatase 6, regulatory subunit 3							153	145	148					11																	68315610		2200	4294	6494	SO:0001583	missense	55291				regulation of phosphoprotein phosphatase activity	cytoplasm|nucleus	protein phosphatase binding	g.chr11:68315610G>T	AF264779	CCDS8182.1, CCDS53671.1, CCDS53672.1, CCDS53673.1, CCDS53674.1, CCDS53675.1	11q13	2012-04-17	2010-06-28	2010-06-28	ENSG00000110075	ENSG00000110075		"Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits"	1173	protein-coding gene	gene with protein product	"sporulation-induced transcript 4-associated protein"	610879	"chromosome 11 open reading frame 23", "SAPS domain family, member 3"	C11orf23, SAPS3		11401438, 16769727	Standard	NM_018312		Approved	SAPLa, DKFZp781E2374, DKFZp781O2362, DKFZp781E17107, SAP190, SAPL, PP6R3, FLJ11058, FLJ43065, KIAA1558, MGC125711, MGC125712	uc001onv.3	Q5H9R7		ENST00000393800.2:c.490G>T	11.37:g.68315610G>T	ENSP00000377389:p.Asp164Tyr					PPP6R3_ENST00000529710.1_Missense_Mutation_p.D164Y|PPP6R3_ENST00000393800.2_Missense_Mutation_p.D164Y|PPP6R3_ENST00000393801.3_Missense_Mutation_p.D164Y|PPP6R3_ENST00000534534.1_Missense_Mutation_p.D73Y|PPP6R3_ENST00000265637.4_Missense_Mutation_p.D164Y|PPP6R3_ENST00000527403.2_Missense_Mutation_p.D164Y|PPP6R3_ENST00000265636.5_Missense_Mutation_p.D164Y|PPP6R3_ENST00000524904.1_Missense_Mutation_p.D164Y|PPP6R3_ENST00000524845.1_Missense_Mutation_p.D164Y	p.D164Y			Q5H9R7	PP6R3_HUMAN			5	757	+			164					Q3B7I1|Q3I4Y0|Q3KR35|Q68CR3|Q7L4R8|Q8N3B2|Q96MB2|Q9H2K5|Q9H2K6|Q9HCL4|Q9NUY3	Missense_Mutation	SNP	ENST00000393800.2	37	c.490G>T	CCDS53672.1	.	.	.	.	.	.	.	.	.	.	G	23.3	4.395690	0.83011	.	.	ENSG00000110075	ENST00000393799;ENST00000413788;ENST00000393800;ENST00000529907;ENST00000534534;ENST00000524845;ENST00000265637;ENST00000524904;ENST00000393801;ENST00000265636;ENST00000529710;ENST00000527403;ENST00000531244	T;T;T;T;T;T;T;T;T;T;T	0.68025	-0.3;-0.3;3.61;-0.28;-0.3;-0.3;-0.3;-0.3;-0.28;-0.28;-0.3	5.3	4.39	0.52855	.	0.000000	0.85682	D	0.000000	D	0.82305	0.5008	M	0.83483	2.645	0.80722	D	1	D;D;D;D;D;P;D	0.89917	1.0;0.996;0.996;0.998;0.998;0.948;0.998	D;D;D;D;D;P;D	0.91635	0.999;0.985;0.966;0.966;0.98;0.807;0.966	D	0.85452	0.1161	10	0.87932	D	0	.	14.1684	0.65493	0.0716:0.0:0.9284:0.0	.	73;164;164;164;164;164;164	E9PQP7;Q5H9R7-3;Q5H9R7-6;Q5H9R7-2;Q5H9R7;Q5H9R7-5;Q5H9R7-4	.;.;.;.;PP6R3_HUMAN;.;.	Y	164;73;164;73;73;164;164;164;164;164;164;164;164	ENSP00000377388:D164Y;ENSP00000377389:D164Y;ENSP00000431738:D73Y;ENSP00000434429:D73Y;ENSP00000431415:D164Y;ENSP00000265637:D164Y;ENSP00000433058:D164Y;ENSP00000377390:D164Y;ENSP00000265636:D164Y;ENSP00000437329:D164Y;ENSP00000433565:D164Y	ENSP00000265636:D164Y	D	+	1	0	PPP6R3	68072186	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	9.502000	0.97981	1.478000	0.48253	0.561000	0.74099	GAT		0.428	PPP6R3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395275.1	NM_018312		4	114	1	0	0.150653	1	0.15502	4	114					T	68315610	G	T	68315610	3	4	91	1	0	0	0	0	1	0	0	0	13838	1174	41	5	500	5	SAPS3	11	68315610	Missense_Mutation	SNP	G	TCGA-EJ-7330-01A-11D-2114-08	20048823	68315610	66690906	36	4681											
KCTD14	65987	broad.mit.edu	37	chr11	77728307	77728307	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cccgacgttcagctccacaaCagtagacatctgggggcaca	11	6	10	14	2	2	1	1	0	1	1	3	2	3	1	2	2	2	4	2	2	2	2			TCGA-EJ-7330-01A-11D-2114-08	TCGA-EJ-7330-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	478b235e-7e7f-4dbb-810b-44a50240b359	30f84a45-9998-47d3-87da-030f357d928e	g.chr11:77728307C>G	ENST00000353172.5	-	2	144	c.100G>C	c.(100-102)Gtt>Ctt	p.V34L	NDUFC2-KCTD14_ENST00000528251.1_Missense_Mutation_p.C59S|KCTD14_ENST00000533144.1_Missense_Mutation_p.V4L|NDUFC2-KCTD14_ENST00000530054.1_Missense_Mutation_p.C107S|RP11-7I15.3_ENST00000533697.1_RNA	NM_001203260.1|NM_001203262.1|NM_001282406.1|NM_023930.3	NP_001190189.1|NP_001190191.1|NP_001269335.1|NP_076419.2	Q9BQ13	KCD14_HUMAN	potassium channel tetramerization domain containing 14	34	BTB.				protein homooligomerization (GO:0051260)					endometrium(2)|kidney(1)|large_intestine(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	15	all_cancers(14;4.53e-19)|all_epithelial(13;1.73e-21)|Breast(9;2.71e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1e-24)			AGCTCCACAACAGTAGACATC	0.502																																					NSCLC(86;414 1416 18100 32729 49271)|Esophageal Squamous(156;1132 1858 11406 36132 46748)	ENST00000353172.5																			0				endometrium(2)|kidney(1)|large_intestine(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	15						c.(100-102)Gtt>Ctt		potassium channel tetramerization domain containing 14							50	50	50					11																	77728307		2200	4292	6492	SO:0001583	missense	65987					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr11:77728307C>G	BC001062	CCDS8255.2, CCDS60908.1	11q13.4	2013-06-20	2013-06-20		ENSG00000151364	ENSG00000151364			23295	protein-coding gene	gene with protein product			"potassium channel tetramerisation domain containing 14"			12477932	Standard	NM_023930		Approved	MGC2376	uc001oyw.4	Q9BQ13	OTTHUMG00000150224	ENST00000353172.5:c.100G>C	11.37:g.77728307C>G	ENSP00000316482:p.Val34Leu					KCTD14_ENST00000533144.1_Missense_Mutation_p.V4L|NDUFC2-KCTD14_ENST00000530054.1_Missense_Mutation_p.C107S|NDUFC2-KCTD14_ENST00000528251.1_Missense_Mutation_p.C59S	p.V34L	NM_001203260.1|NM_001203262.1|NM_023930.3	NP_001190189.1|NP_001190191.1|NP_076419.2	Q9BQ13	KCD14_HUMAN	OV - Ovarian serous cystadenocarcinoma(8;1e-24)		2	144	-	all_cancers(14;4.53e-19)|all_epithelial(13;1.73e-21)|Breast(9;2.71e-16)|Ovarian(111;0.152)		34			BTB.		B2R9R8	Missense_Mutation	SNP	ENST00000353172.5	37	c.100G>C	CCDS8255.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.26|13.26	2.183515|2.183515	0.38609|0.38609	.|.	.|.	ENSG00000259112|ENSG00000151364	ENST00000528251;ENST00000530054|ENST00000353172;ENST00000533144	T;T|T;T	0.58358|0.41065	0.34;0.88|1.01;1.01	4.5|4.5	3.59|3.59	0.41128|0.41128	.|BTB/POZ-like (1);BTB/POZ fold (2);	.|0.135626	.|0.49916	.|D	.|0.000123	T|T	0.38585|0.38585	0.1046|0.1046	L|L	0.46567|0.46567	1.45|1.45	0.26783|0.26783	N|N	0.969563|0.969563	.|D	.|0.53312	.|0.959	.|P	.|0.50109	.|0.631	T|T	0.15407|0.15407	-1.0438|-1.0438	7|10	0.41790|0.25106	T|T	0.15|0.35	.|.	5.7262|5.7262	0.18015|0.18015	0.0:0.6915:0.0:0.3085|0.0:0.6915:0.0:0.3085	.|.	.|34	.|Q9BQ13	.|KCD14_HUMAN	S|L	59;107|34;4	ENSP00000435967:C59S;ENSP00000432614:C107S|ENSP00000316482:V34L;ENSP00000431155:V4L	ENSP00000435967:C59S|ENSP00000316482:V34L	C|V	-|-	2|1	0|0	RP11-7I15.5|KCTD14	77405955|77405955	0.992000|0.992000	0.36948|0.36948	0.194000|0.194000	0.23346|0.23346	0.207000|0.207000	0.24258|0.24258	3.013000|3.013000	0.49582|0.49582	1.104000|1.104000	0.41587|0.41587	-0.258000|-0.258000	0.10820|0.10820	TGT|GTT		0.502	KCTD14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316888.1	NM_023930		8	46	0	0	0	1	0	8	46					G	77728307	C	G	77728307	3	3	91	1	0	0	0	0	1	0	0	0	8101	478	17	5	671	5	KCTD14	11	77728307	Missense_Mutation	SNP	C	TCGA-EJ-7330-01A-11D-2114-08	9412697	77728307	57278209	37	4682											
TRIM29	23650	broad.mit.edu	37	chr11	120008138	120008138	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	aggcggcgccctccaggtggGgcttgagatgcagctcgcag	6	6	17	12	3	0	1	0	1	0	1	2	2	1	1	2	5	2	4	2	5	0	1			TCGA-EJ-7330-01A-11D-2114-08	TCGA-EJ-7330-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	478b235e-7e7f-4dbb-810b-44a50240b359	30f84a45-9998-47d3-87da-030f357d928e	g.chr11:120008138G>A	ENST00000341846.5	-	1	1023	c.602C>T	c.(601-603)cCc>cTc	p.P201L		NM_012101.3	NP_036233.2	Q14134	TRI29_HUMAN	tripartite motif containing 29	201					negative regulation of protein localization to nucleus (GO:1900181)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)	sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	30		Breast(109;0.00117)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.37e-06)		CTCCAGGTGGGGCTTGAGATG	0.647																																						ENST00000341846.5																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	30						c.(601-603)cCc>cTc		tripartite motif containing 29							33	35	34					11																	120008138		2203	4300	6503	SO:0001583	missense	23650				transcription from RNA polymerase II promoter	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr11:120008138G>A	AF230388	CCDS8428.1	11q23.3	2011-04-20	2011-01-25		ENSG00000137699	ENSG00000137699		"Tripartite motif containing / Tripartite motif containing"	17274	protein-coding gene	gene with protein product	"tripartite motif protein TRIM29", "ataxia-telangiectasia group D-associated protein"	610658	"tripartite motif-containing 29"			11331580	Standard	NM_012101		Approved	ATDC, FLJ36085	uc001pwz.3	Q14134	OTTHUMG00000140377	ENST00000341846.5:c.602C>T	11.37:g.120008138G>A	ENSP00000343129:p.Pro201Leu						p.P201L	NM_012101.3	NP_036233.2	Q14134	TRI29_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.37e-06)	1	1023	-		Breast(109;0.00117)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	201					Q96AA9|Q9BZY7	Missense_Mutation	SNP	ENST00000341846.5	37	c.602C>T	CCDS8428.1	.	.	.	.	.	.	.	.	.	.	G	29.4	5.001438	0.93227	.	.	ENSG00000137699	ENST00000341846	T	0.48201	0.82	5.91	4.98	0.66077	.	0.000000	0.64402	D	0.000001	T	0.61800	0.2376	L	0.58354	1.805	0.80722	D	1	D	0.56521	0.976	P	0.59424	0.857	T	0.61744	-0.7000	9	.	.	.	.	16.8968	0.86102	0.0:0.1281:0.8719:0.0	.	201	Q14134	TRI29_HUMAN	L	201	ENSP00000343129:P201L	.	P	-	2	0	TRIM29	119513348	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.622000	0.74233	1.459000	0.47892	0.655000	0.94253	CCC		0.647	TRIM29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277108.2	NM_012101		7	35	0	0	0	1	0	7	35					A	120008138	G	A	120008138	3	1	91	1	0	0	0	0	1	0	0	0	16500	1232	43	3	1200	3	TRIM29	11	120008138	Missense_Mutation	SNP	G	TCGA-EJ-7330-01A-11D-2114-08	42279831	120008138	14998378	38	4683											
SCN8A	6334	broad.mit.edu	37	chr12	52200821	52200821	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gcttggacatcctttttgccTtcaccaagcgggtcctggga	6	12	11	12	1	1	0	1	0	0	0	3	2	3	2	4	3	2	1	4	3	1	4			TCGA-EJ-7330-01A-11D-2114-08	TCGA-EJ-7330-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	478b235e-7e7f-4dbb-810b-44a50240b359	30f84a45-9998-47d3-87da-030f357d928e	g.chr12:52200821T>G	ENST00000354534.6	+	27	5729	c.5551T>G	c.(5551-5553)Ttc>Gtc	p.F1851V	RP11-923I11.3_ENST00000565518.1_lincRNA|SCN8A_ENST00000545061.1_Missense_Mutation_p.F1810V|AC068987.1_ENST00000599343.1_5'Flank	NM_001177984.2|NM_014191.3	NP_001171455.1|NP_055006.1	Q9UQD0	SCN8A_HUMAN	sodium channel, voltage gated, type VIII, alpha subunit	1851					adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|membrane depolarization during action potential (GO:0086010)|muscle organ development (GO:0007517)|myelination (GO:0042552)|nervous system development (GO:0007399)|neuromuscular process (GO:0050905)|neuronal action potential (GO:0019228)|peripheral nervous system development (GO:0007422)|response to toxic substance (GO:0009636)|sensory perception of sound (GO:0007605)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon initial segment (GO:0043194)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)|Z disc (GO:0030018)	ATP binding (GO:0005524)|voltage-gated sodium channel activity (GO:0005248)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55				BRCA - Breast invasive adenocarcinoma(357;0.181)	Valproic Acid(DB00313)	CCTTTTTGCCTTCACCAAGCG	0.557																																						ENST00000354534.5																			0				breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55						c.(5551-5553)Ttc>Gtc		sodium channel, voltage gated, type VIII, alpha subunit	Lamotrigine(DB00555)						94	99	97					12																	52200821		2113	4252	6365	SO:0001583	missense	6334				axon guidance|myelination|peripheral nervous system development	cytoplasmic membrane-bounded vesicle|node of Ranvier	ATP binding|voltage-gated sodium channel activity	g.chr12:52200821T>G	AB027567	CCDS44891.1, CCDS53794.1	12q13.1	2012-02-26	2007-01-23			ENSG00000196876		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10596	protein-coding gene	gene with protein product		600702	"sodium channel, voltage gated, type VIII, alpha polypeptide"	MED		7670495, 9828131, 16382098	Standard	NM_014191		Approved	Nav1.6, NaCh6, PN4, CerIII	uc001ryw.4	Q9UQD0		ENST00000354534.6:c.5551T>G	12.37:g.52200821T>G	ENSP00000346534:p.Phe1851Val					SCN8A_ENST00000545061.1_Missense_Mutation_p.F1810V	p.F1851V	NM_001177984.2|NM_014191.3	NP_001171455.1|NP_055006.1	Q9UQD0	SCN8A_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.181)	27	5729	+			1851					B9VWG8|O95788|Q9NYX2|Q9UPB2	Missense_Mutation	SNP	ENST00000354534.6	37	c.5551T>G	CCDS44891.1	.	.	.	.	.	.	.	.	.	.	T	13.99	2.402471	0.42613	.	.	ENSG00000196876	ENST00000354534;ENST00000545061	D;D	0.96073	-3.9;-3.88	4.91	4.91	0.64330	.	0.000000	0.85682	D	0.000000	D	0.97126	0.9061	M	0.68593	2.085	0.80722	D	1	D	0.76494	0.999	D	0.91635	0.999	D	0.97781	1.0232	10	0.87932	D	0	.	15.0094	0.71539	0.0:0.0:0.0:1.0	.	1851	Q9UQD0	SCN8A_HUMAN	V	1851;1810	ENSP00000346534:F1851V;ENSP00000440360:F1810V	ENSP00000346534:F1851V	F	+	1	0	SCN8A	50487088	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.139000	0.71728	2.200000	0.70718	0.459000	0.35465	TTC		0.557	SCN8A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404372.3	NM_014191		26	117	0	0	0	1	0	26	117					G	52200821	T	G	52200821	3	3	91	1	0	0	0	0	1	0	0	0	13924	1609	56	5	5653	5	SCN8A	12	52200821	Missense_Mutation	SNP	T	TCGA-EJ-7330-01A-11D-2114-08		52200821	81651074	39	4684											
WIF1	11197	broad.mit.edu	37	chr12	65514270	65514270	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctggcattctctgttgtgctTttctgaaatcatgtgtaaaa	9	17	8	7	0	3	1	1	1	2	0	4	1	3	1	0	1	1	4	0	1	3	5			TCGA-EJ-7330-01A-11D-2114-08	TCGA-EJ-7330-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	478b235e-7e7f-4dbb-810b-44a50240b359	30f84a45-9998-47d3-87da-030f357d928e	g.chr12:65514270T>C	ENST00000286574.4	-	2	589	c.215A>G	c.(214-216)aAa>aGa	p.K72R		NM_007191.4	NP_009122.2	Q9Y5W5	WIF1_HUMAN	WNT inhibitory factor 1	72	WIF. {ECO:0000255|PROSITE- ProRule:PRU00222}.				multicellular organismal development (GO:0007275)|positive regulation of fat cell differentiation (GO:0045600)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055)	extracellular region (GO:0005576)		p.K72I(2)		cervix(1)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1)	21			LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975)	GBM - Glioblastoma multiforme(28;0.0231)		CTGTTGTGCTTTTCTGAAATC	0.378			T	HMGA2	pleomorphic salivary gland adenoma																																Esophageal Squamous(148;1595 1816 48559 49439 49664)	ENST00000286574.4				Dom	yes		12	12q14.3	11197	T	WNT inhibitory factor 1			E	HMGA2		pleomorphic salivary gland adenoma		2	Substitution - Missense(2)	p.K72I(2)	large_intestine(2)	cervix(1)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1)	21						c.(214-216)aAa>aGa		WNT inhibitory factor 1							143	148	146					12																	65514270		2203	4300	6503	SO:0001583	missense	11197				multicellular organismal development|Wnt receptor signaling pathway	extracellular region	protein tyrosine kinase activity	g.chr12:65514270T>C	AF122922	CCDS8971.1	12q14.2	2008-04-11			ENSG00000156076	ENSG00000156076			18081	protein-coding gene	gene with protein product		605186				10201374	Standard	NM_007191		Approved		uc001ssk.3	Q9Y5W5	OTTHUMG00000168832	ENST00000286574.4:c.215A>G	12.37:g.65514270T>C	ENSP00000286574:p.Lys72Arg						p.K72R	NM_007191.4	NP_009122.2	Q9Y5W5	WIF1_HUMAN	LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975)	GBM - Glioblastoma multiforme(28;0.0231)	2	589	-			72			WIF.		Q6UXI1|Q8WVG4	Missense_Mutation	SNP	ENST00000286574.4	37	c.215A>G	CCDS8971.1	.	.	.	.	.	.	.	.	.	.	T	13.69	2.313457	0.40996	.	.	ENSG00000156076	ENST00000286574;ENST00000546001	D	0.88975	-2.45	5.5	4.29	0.51040	WIF domain (4);	0.051770	0.85682	N	0.000000	T	0.82176	0.4980	L	0.36672	1.1	0.51012	D	0.999906	B	0.02656	0.0	B	0.06405	0.002	T	0.74216	-0.3737	9	.	.	.	.	11.2241	0.48873	0.0:0.0758:0.0:0.9242	.	72	Q9Y5W5	WIF1_HUMAN	R	72;10	ENSP00000286574:K72R	.	K	-	2	0	WIF1	63800537	1.000000	0.71417	1.000000	0.80357	0.882000	0.50991	4.074000	0.57577	0.959000	0.37980	0.533000	0.62120	AAA		0.378	WIF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401258.2			5	109	0	0	0	1	0	5	109					C	65514270	T	C	65514270	3	2	91	1	0	0	0	0	1	0	0	0	17363	1841	64	4	960	4	WIF1	12	65514270	Missense_Mutation	SNP	T	TCGA-EJ-7330-01A-11D-2114-08	13313449	65514270	68337625	40	4685											
CAND1	55832	broad.mit.edu	37	chr12	67700301	67700301	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaggaaccagaaatgttgtTgctgaatgtctaggaaaact	15	10	11	5	0	1	2	0	1	1	1	1	5	1	4	1	2	3	3	1	2	7	3			TCGA-EJ-7330-01A-11D-2114-08	TCGA-EJ-7330-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	478b235e-7e7f-4dbb-810b-44a50240b359	30f84a45-9998-47d3-87da-030f357d928e	g.chr12:67700301T>C	ENST00000545606.1	+	10	3290	c.2853T>C	c.(2851-2853)gtT>gtC	p.V951V		NM_018448.3	NP_060918.2	Q86VP6	CAND1_HUMAN	cullin-associated and neddylation-dissociated 1	951					cell differentiation (GO:0030154)|negative regulation of catalytic activity (GO:0043086)|positive regulation of RNA polymerase II transcriptional preinitiation complex assembly (GO:0045899)|protein ubiquitination (GO:0016567)|SCF complex assembly (GO:0010265)	cullin-RING ubiquitin ligase complex (GO:0031461)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)				NS(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)	35			GBM - Glioblastoma multiforme(1;1.13e-10)|Lung(24;0.000342)|LUSC - Lung squamous cell carcinoma(43;0.196)	GBM - Glioblastoma multiforme(28;0.0279)		GAAATGTTGTTGCTGAATGTC	0.423																																						ENST00000545606.1																			0				NS(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)	35						c.(2851-2853)gtT>gtC		cullin-associated and neddylation-dissociated 1							93	95	94					12																	67700301		2203	4300	6503	SO:0001819	synonymous_variant	55832				cell differentiation|negative regulation of catalytic activity|protein ubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|ubiquitin ligase complex	protein binding	g.chr12:67700301T>C		CCDS8977.1	12q14	2008-02-05			ENSG00000111530	ENSG00000111530			30688	protein-coding gene	gene with protein product	"TBP interacting protein"	607727				10048485, 8954946	Standard	NM_018448		Approved	TIP120A, DKFZp434M1414, KIAA0829, TIP120	uc001stn.2	Q86VP6	OTTHUMG00000169060	ENST00000545606.1:c.2853T>C	12.37:g.67700301T>C							p.V951V	NM_018448.3	NP_060918.2	Q86VP6	CAND1_HUMAN	GBM - Glioblastoma multiforme(1;1.13e-10)|Lung(24;0.000342)|LUSC - Lung squamous cell carcinoma(43;0.196)	GBM - Glioblastoma multiforme(28;0.0279)	10	3290	+			951					B2RAU3|O94918|Q6PIY4|Q8NDJ4|Q96JZ9|Q96T19|Q9BTC4|Q9H0G2|Q9P0H7|Q9UF85	Silent	SNP	ENST00000545606.1	37	c.2853T>C	CCDS8977.1																																																																																				0.423	CAND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402105.1	NM_018448		12	75	0	0	0	1	0	12	75					C	67700301	T	C	67700301	2	2	91	1	0	0	0	0	0	0	0	1	2615	1799	63	4		4	CAND1	12	67700301	Silent	SNP	T	TCGA-EJ-7330-01A-11D-2114-08	2186031	67700301	66151594	41	4686											
C1QTNF9B	387911	broad.mit.edu	37	chr13	24465562	24465562	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttcagctgcaggacaatgcTgccagaggcctggtcctcag	8	8	12	13	0	2	1	2	0	0	1	3	2	3	2	3	3	4	3	3	3	1	1	rs41286068		TCGA-EJ-7330-01A-11D-2114-08	TCGA-EJ-7330-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	478b235e-7e7f-4dbb-810b-44a50240b359	30f84a45-9998-47d3-87da-030f357d928e	g.chr13:24465562T>C	ENST00000382140.2	-	5	928	c.868A>G	c.(868-870)Agc>Ggc	p.S290G	MIPEP_ENST00000469167.1_5'Flank|C1QTNF9B_ENST00000382145.1_3'UTR|C1QTNF9B_ENST00000382137.3_Missense_Mutation_p.S290G|MIPEP_ENST00000382172.3_5'Flank|C1QTNF9B-AS1_ENST00000417034.1_RNA|C1QTNF9B_ENST00000556521.1_5'UTR|C1QTNF9B-AS1_ENST00000435039.2_RNA|C1QTNF9B-AS1_ENST00000382133.4_RNA			B2RNN3	C1T9B_HUMAN	C1q and tumor necrosis factor related protein 9B	290	C1q. {ECO:0000255|PROSITE- ProRule:PRU00368}.					collagen trimer (GO:0005581)|extracellular vesicular exosome (GO:0070062)				breast(1)|central_nervous_system(1)|large_intestine(3)|lung(1)	6						AGGACAATGCTGCCAGAGGCC	0.507																																						ENST00000382137.3																			0				breast(1)|central_nervous_system(1)|large_intestine(3)|lung(1)	6						c.(868-870)Agc>Ggc		C1q and tumor necrosis factor related protein 9B		C	GLY/SER,,PRO/LEU	10,4340		0,10,2165	104	97	100		868,,5	4	0	13	dbSNP_127	100	17,8495		1,15,4240	no	missense,utr-5,missense	C1QTNF9B,C1QTNF9B-AS1	NM_001007537.1,NM_001014442.2,NM_001135816.1	56,,98	1,25,6405	CC,CT,TT		0.1997,0.2299,0.2099	benign,,benign	290/334,,2/117	24465562	27,12835	2175	4256	6431	SO:0001583	missense	387911					collagen		g.chr13:24465562T>C	BC110413	CCDS31947.1	13q12.12	2011-05-08			ENSG00000205863	ENSG00000205863			34072	protein-coding gene	gene with protein product		614148				17544811	Standard	NM_001007537		Approved	CTRP9B	uc010tcv.1	B2RNN3	OTTHUMG00000016570	ENST00000382140.2:c.868A>G	13.37:g.24465562T>C	ENSP00000371575:p.Ser290Gly					C1QTNF9B_ENST00000382140.2_Missense_Mutation_p.S290G|C1QTNF9B_ENST00000556521.1_5'UTR|C1QTNF9B_ENST00000382145.1_3'UTR|C1QTNF9B-AS1_ENST00000435039.2_RNA|C1QTNF9B-AS1_ENST00000382133.4_RNA	p.S290G	NM_001007537.1	NP_001007538.1	B2RNN3	C1T9B_HUMAN			3	936	-			290			C1q.		A2A3T6|B9EH31|Q0VGC5|Q5VX65|Q5VX66|Q8IUU4	Missense_Mutation	SNP	ENST00000382140.2	37	c.868A>G	CCDS31947.1	.	.	.	.	.	.	.	.	.	.	c	5.241	0.229897	0.09969	0.002299	0.001997	ENSG00000205863	ENST00000382137;ENST00000382140	T;T	0.76060	-0.99;-0.99	3.96	3.96	0.45880	Tumour necrosis factor-like (2);Complement C1q protein (4);	0.050029	0.85682	N	0.000000	T	0.54549	0.1865	.	.	.	0.52501	D	0.999952	B	0.02656	0.0	B	0.01281	0.0	T	0.38993	-0.9635	9	0.12103	T	0.63	.	7.2965	0.26395	0.1658:0.7466:0.0:0.0876	rs41286068	290	B2RNN3	C1T9B_HUMAN	G	290	ENSP00000371572:S290G;ENSP00000371575:S290G	ENSP00000371572:S290G	S	-	1	0	C1QTNF9B	23363562	0.749000	0.28305	0.012000	0.15200	0.221000	0.24807	3.167000	0.50793	0.819000	0.34492	-0.365000	0.07479	AGC		0.507	C1QTNF9B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044162.3	NM_001007537		4	73	0	0	0	1	0	4	73					C	24465562	T	C	24465562	3	2	91	1	0	0	0	0	1	0	0	0	1971	1580	55	4	136	4	C1QTNF9B	13	24465562	Missense_Mutation	SNP	T	TCGA-EJ-7330-01A-11D-2114-08		24465562	90704316	42	4687											
ATP12A	479	broad.mit.edu	37	chr13	25255780	25255780	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aagggggatggcaaggagaaGtataggggtctgaagaacaa	16	5	17	3	0	1	3	0	1	1	2	1	5	1	4	0	6	1	2	0	6	8	2			TCGA-EJ-7330-01A-11D-2114-08	TCGA-EJ-7330-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	478b235e-7e7f-4dbb-810b-44a50240b359	30f84a45-9998-47d3-87da-030f357d928e	g.chr13:25255780G>T	ENST00000381946.3	+	2	257	c.90G>T	c.(88-90)aaG>aaT	p.K30N	ATP12A_ENST00000218548.6_Missense_Mutation_p.K30N			P54707	AT12A_HUMAN	ATPase, H+/K+ transporting, nongastric, alpha polypeptide	30					ATP biosynthetic process (GO:0006754)|ion transmembrane transport (GO:0034220)|potassium ion homeostasis (GO:0055075)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|hydrogen:potassium-exchanging ATPase complex (GO:0005889)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|hydrogen:potassium-exchanging ATPase activity (GO:0008900)|metal ion binding (GO:0046872)			breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5)	74		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)		GCAAGGAGAAGTATAGGGGTC	0.473																																					Pancreas(156;1582 1935 18898 22665 26498)	ENST00000218548.6																			0				breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5)	74						c.(88-90)aaG>aaT		ATPase, H+/K+ transporting, nongastric, alpha polypeptide	Esomeprazole(DB00736)|Pantoprazole(DB00213)						94	93	93					13																	25255780		2203	4300	6503	SO:0001583	missense	479				ATP biosynthetic process	hydrogen:potassium-exchanging ATPase complex	ATP binding|hydrogen:potassium-exchanging ATPase activity|metal ion binding	g.chr13:25255780G>T	L42558	CCDS31948.1, CCDS53858.1	13q11-q12.1	2010-04-20	2002-02-25		ENSG00000075673	ENSG00000075673	3.6.3.10	"ATPases / P-type"	13816	protein-coding gene	gene with protein product	"ATPase, Na+K+ transporting, alpha-1 polypeptide-like", "potassium-transporting ATPase alpha chain 2", "proton pump", "non-gastric H(+)/K(+) ATPase alpha subunit", "sodium/potassium ATPase, alpha polypeptide-like"	182360	"ATPase, Na+/K+ transporting, alpha polypeptide-like 1"	ATP1AL1		8838794, 2842249	Standard	NM_001676		Approved		uc010aaa.3	P54707	OTTHUMG00000016588	ENST00000381946.3:c.90G>T	13.37:g.25255780G>T	ENSP00000371372:p.Lys30Asn					ATP12A_ENST00000381946.3_Missense_Mutation_p.K30N	p.K30N	NM_001185085.1|NM_001676.5	NP_001172014.1|NP_001667.4	P54707	AT12A_HUMAN		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)	2	423	+		Lung SC(185;0.0225)|Breast(139;0.077)	30					Q13816|Q13817|Q16734|Q5W035|Q8N5U2	Missense_Mutation	SNP	ENST00000381946.3	37	c.90G>T	CCDS31948.1	.	.	.	.	.	.	.	.	.	.	G	12.78	2.039780	0.35989	.	.	ENSG00000075673	ENST00000218548;ENST00000381946	D;D	0.93604	-3.25;-3.25	5.32	4.47	0.54385	.	2.567750	0.02076	N	0.051973	D	0.90400	0.6995	N	0.08118	0	0.44098	D	0.996869	P;P	0.44946	0.846;0.761	P;B	0.47470	0.548;0.346	T	0.78718	-0.2095	10	0.51188	T	0.08	.	12.0614	0.53564	0.084:0.0:0.916:0.0	.	30;30	P54707-2;P54707	.;AT12A_HUMAN	N	30	ENSP00000218548:K30N;ENSP00000371372:K30N	ENSP00000218548:K30N	K	+	3	2	ATP12A	24153780	1.000000	0.71417	0.661000	0.29709	0.253000	0.25986	2.712000	0.47186	1.458000	0.47871	0.650000	0.86243	AAG		0.473	ATP12A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044199.1	NM_001676		9	67	1	0	0.38729	1	0.392823	9	67					T	25255780	G	T	25255780	3	4	91	1	0	0	0	0	1	0	0	0	1122	1020	36	5	96	5	ATP12A	13	25255780	Missense_Mutation	SNP	G	TCGA-EJ-7330-01A-11D-2114-08	790218	25255780	89914098	43	4688											
RB1	5925	broad.mit.edu	37	chr13	48934221	48934221	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgctatgtgtccttgactatTttattaaactctcacctccc	8	17	4	12	0	1	1	1	1	1	0	4	1	3	1	3	0	2	1	3	0	5	6			TCGA-EJ-7330-01A-11D-2114-08	TCGA-EJ-7330-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	478b235e-7e7f-4dbb-810b-44a50240b359	30f84a45-9998-47d3-87da-030f357d928e	g.chr13:48934221T>C	ENST00000267163.4	+	7	814	c.676T>C	c.(676-678)Ttt>Ctt	p.F226L		NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1	226					androgen receptor signaling pathway (GO:0030521)|cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|cell morphogenesis involved in neuron differentiation (GO:0048667)|chromatin remodeling (GO:0006338)|digestive tract development (GO:0048565)|enucleate erythrocyte differentiation (GO:0043353)|G1/S transition of mitotic cell cycle (GO:0000082)|glial cell apoptotic process (GO:0034349)|hepatocyte apoptotic process (GO:0097284)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|myoblast differentiation (GO:0045445)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0071930)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron apoptotic process (GO:0051402)|neuron maturation (GO:0042551)|neuron projection development (GO:0031175)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein localization to chromosome, centromeric region (GO:0071459)|Ras protein signal transduction (GO:0007265)|regulation of centromere complex assembly (GO:0090230)|regulation of cohesin localization to chromatin (GO:0071922)|regulation of lipid kinase activity (GO:0043550)|regulation of mitotic cell cycle (GO:0007346)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|sister chromatid biorientation (GO:0031134)|skeletal muscle cell differentiation (GO:0035914)|striated muscle cell differentiation (GO:0051146)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromatin (GO:0000785)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|Rb-E2F complex (GO:0035189)|spindle (GO:0005819)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|phosphoprotein binding (GO:0051219)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)	p.0?(15)|p.?(6)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	"""Insulin(DB00071)|Insulin Regular(DB00030)"	CCTTGACTATTTTATTAAACT	0.313		6	"D, Mis, N, F, S"		"retinoblastoma, sarcoma, breast, small cell lung"	"retinoblastoma, sarcoma, breast, small cell lung"			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)																												ENST00000267163.4		6	yes	Rec	yes	Familial retinoblastoma	13	13q14	5925	"D, Mis, N, F, S"	retinoblastoma gene			"L, E, M, O"		"retinoblastoma, sarcoma, breast, small cell lung"	"retinoblastoma, sarcoma, breast, small cell lung"		21	Whole gene deletion(15)|Unknown(6)	p.0?(15)|p.?(6)	bone(11)|breast(5)|eye(1)|soft_tissue(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|endometrium(1)	NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496						c.(676-678)Ttt>Ctt		retinoblastoma 1	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)						95	95	95					13																	48934221		2203	4298	6501	SO:0001583	missense	5925	Hereditary Retinoblastoma	Familial Cancer Database		androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	g.chr13:48934221T>C	M15400	CCDS31973.1	13q14.2	2014-09-17	2008-07-31		ENSG00000139687	ENSG00000139687		"Endogenous ligands"	9884	protein-coding gene	gene with protein product	"prepro-retinoblastoma-associated protein", "protein phosphatase 1, regulatory subunit 130"	614041	"osteosarcoma"	OSRC		1857421, 15057823	Standard	NM_000321		Approved	RB, PPP1R130	uc001vcb.3	P06400	OTTHUMG00000016900	ENST00000267163.4:c.676T>C	13.37:g.48934221T>C	ENSP00000267163:p.Phe226Leu	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)					p.F226L	NM_000321.2	NP_000312.2	P06400	RB_HUMAN		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	7	814	+		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)	226					A8K5E3|P78499|Q5VW46|Q8IZL4	Missense_Mutation	SNP	ENST00000267163.4	37	c.676T>C	CCDS31973.1	.	.	.	.	.	.	.	.	.	.	T	19.00	3.742264	0.69418	.	.	ENSG00000139687	ENST00000542917;ENST00000267163	T	0.68025	-0.3	5.59	5.59	0.84812	Domain of unknown function DUF3452, retinoblastoma-associated (1);	0.110762	0.64402	D	0.000007	T	0.65196	0.2668	L	0.55481	1.735	0.52099	D	0.999941	P	0.35684	0.515	B	0.38378	0.272	T	0.67229	-0.5723	10	0.51188	T	0.08	.	14.744	0.69477	0.0:0.0:0.0:1.0	.	226	P06400	RB_HUMAN	L	205;226	ENSP00000267163:F226L	ENSP00000267163:F226L	F	+	1	0	RB1	47832222	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	5.416000	0.66417	2.126000	0.65437	0.528000	0.53228	TTT		0.313	RB1-002	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000044884.1			19	91	0	0	0	1	0	19	91					C	48934221	T	C	48934221	3	2	91	1	0	0	0	0	1	0	0	0	13098	1841	64	4	702	4	RB1	13	48934221	Missense_Mutation	SNP	T	TCGA-EJ-7330-01A-11D-2114-08	23678441	48934221	66235657	44	4689											
GPC6	10082	broad.mit.edu	37	chr13	94482577	94482577	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tggaggaaatgctcaatgacTtttgggctcggctcctggaa	9	11	13	8	1	1	1	1	1	0	0	3	4	2	4	1	5	1	3	1	5	3	2			TCGA-EJ-7330-01A-11D-2114-08	TCGA-EJ-7330-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	478b235e-7e7f-4dbb-810b-44a50240b359	30f84a45-9998-47d3-87da-030f357d928e	g.chr13:94482577T>C	ENST00000377047.4	+	3	1105	c.490T>C	c.(490-492)Ttt>Ctt	p.F164L	GPC6-AS2_ENST00000445540.1_RNA	NM_005708.3	NP_005699.1	Q9Y625	GPC6_HUMAN	glypican 6	164					carbohydrate metabolic process (GO:0005975)|cell migration (GO:0016477)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	38	all_neural(89;0.0684)|Medulloblastoma(90;0.163)	all_cancers(2;5.48e-07)|all_epithelial(2;5.69e-08)|all_lung(2;2.19e-05)|Lung NSC(4;6.09e-05)|Breast(118;0.0395)|Renal(2;0.0568)|Hepatocellular(115;0.217)				GCTCAATGACTTTTGGGCTCG	0.468																																						ENST00000377047.4																			0				NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	38						c.(490-492)Ttt>Ctt		glypican 6							114	113	114					13																	94482577		2203	4300	6503	SO:0001583	missense	10082					anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding	g.chr13:94482577T>C	AF111178	CCDS9469.1	13q32	2008-02-05			ENSG00000183098	ENSG00000183098		"Proteoglycans / Cell Surface : Glypicans"	4454	protein-coding gene	gene with protein product	"glypican proteoglycan 6"	604404				10329016	Standard	NM_005708		Approved		uc001vlt.3	Q9Y625	OTTHUMG00000017205	ENST00000377047.4:c.490T>C	13.37:g.94482577T>C	ENSP00000366246:p.Phe164Leu					GPC6-AS2_ENST00000445540.1_RNA	p.F164L	NM_005708.3	NP_005699.1	Q9Y625	GPC6_HUMAN			3	1105	+	all_neural(89;0.0684)|Medulloblastoma(90;0.163)	all_cancers(2;5.48e-07)|all_epithelial(2;5.69e-08)|all_lung(2;2.19e-05)|Lung NSC(4;6.09e-05)|Breast(118;0.0395)|Renal(2;0.0568)|Hepatocellular(115;0.217)	164					A8K279|Q96SG5|Q96SG8|Q9H1P4	Missense_Mutation	SNP	ENST00000377047.4	37	c.490T>C	CCDS9469.1	.	.	.	.	.	.	.	.	.	.	T	33	5.199221	0.94997	.	.	ENSG00000183098	ENST00000377047	T	0.62232	0.04	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	T	0.82213	0.4988	M	0.88979	2.995	0.49915	D	0.999831	D;D	0.76494	0.972;0.999	D;D	0.83275	0.921;0.996	D	0.84913	0.0849	10	0.52906	T	0.07	.	15.9539	0.79865	0.0:0.0:0.0:1.0	.	164;164	B4E2M1;Q9Y625	.;GPC6_HUMAN	L	164	ENSP00000366246:F164L	ENSP00000366246:F164L	F	+	1	0	GPC6	93280578	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.655000	0.83696	2.240000	0.73641	0.528000	0.53228	TTT		0.468	GPC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045460.4	NM_005708		4	68	0	0	0	1	0	4	68					C	94482577	T	C	94482577	3	2	91	1	0	0	0	0	1	0	0	0	6602	1609	56	4	500	4	GPC6	13	94482577	Missense_Mutation	SNP	T	TCGA-EJ-7330-01A-11D-2114-08	45548356	94482577	20687301	45	4690											
COL4A2	1284	broad.mit.edu	37	chr13	111088622	111088622	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttaacaatatgcagggtgacGtagggcagccgggacccaac	12	6	13	10	2	0	1	0	1	0	0	0	2	0	2	2	3	4	3	2	3	5	3	rs371879428		TCGA-EJ-7330-01A-11D-2114-08	TCGA-EJ-7330-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	478b235e-7e7f-4dbb-810b-44a50240b359	30f84a45-9998-47d3-87da-030f357d928e	g.chr13:111088622G>A	ENST00000360467.5	+	13	1039	c.733G>A	c.(733-735)Gta>Ata	p.V245I		NM_001846.2	NP_001837.2	P08572	CO4A2_HUMAN	collagen, type IV, alpha 2	245	Triple-helical region.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|cellular response to transforming growth factor beta stimulus (GO:0071560)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of angiogenesis (GO:0016525)|transcription, DNA-templated (GO:0006351)	collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)	extracellular matrix structural constituent (GO:0005201)			NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	80	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)			GCAGGGTGACGTAGGGCAGCC	0.478																																						ENST00000360467.5																			0				NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						c.(733-735)Gta>Ata		collagen, type IV, alpha 2		G	ILE/VAL	0,3824		0,0,1912	79	82	81		733	0.8	0.2	13		81	2,8252		0,2,4125	no	missense	COL4A2	NM_001846.2	29	0,2,6037	AA,AG,GG		0.0242,0.0,0.0166	benign	245/1713	111088622	2,12076	1912	4127	6039	SO:0001583	missense	1284				angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis	collagen type IV	extracellular matrix structural constituent|protein binding	g.chr13:111088622G>A	AK025912	CCDS41907.1	13q34	2013-09-05			ENSG00000134871	ENSG00000134871		"Collagens"	2203	protein-coding gene	gene with protein product	"canstatin", "collagen type IV alpha 2"	120090				2439508, 3025878	Standard	NM_001846		Approved	FLJ22259, DKFZp686I14213	uc001vqx.3	P08572	OTTHUMG00000017344	ENST00000360467.5:c.733G>A	13.37:g.111088622G>A	ENSP00000353654:p.Val245Ile						p.V245I	NM_001846.2	NP_001837.2	P08572	CO4A2_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)		13	1039	+	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	245			Triple-helical region.		Q14052|Q548C3|Q5VZA9|Q66K23	Missense_Mutation	SNP	ENST00000360467.5	37	c.733G>A	CCDS41907.1	.	.	.	.	.	.	.	.	.	.	G	5.009	0.187268	0.09547	0.0	2.42E-4	ENSG00000134871	ENST00000360467;ENST00000257309	D	0.92299	-3.01	4.84	0.756	0.18421	.	0.655867	0.13630	N	0.373788	T	0.81922	0.4925	N	0.20685	0.6	0.09310	N	0.999995	B	0.02656	0.0	B	0.01281	0.0	T	0.67526	-0.5648	10	0.34782	T	0.22	.	3.795	0.08736	0.5888:0.1847:0.2265:0.0	.	245	P08572	CO4A2_HUMAN	I	245	ENSP00000353654:V245I	ENSP00000257309:V245I	V	+	1	0	COL4A2	109886623	0.000000	0.05858	0.238000	0.24106	0.022000	0.10575	-1.203000	0.03019	-0.041000	0.13558	0.555000	0.69702	GTA		0.478	COL4A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045761.2	NM_001846		7	53	0	0	0	1	0	7	53					A	111088622	G	A	111088622	3	1	91	1	0	0	0	0	1	0	0	0	3690	1145	40	1	779	1	COL4A2	13	111088622	Missense_Mutation	SNP	G	TCGA-EJ-7330-01A-11D-2114-08	16606045	111088622	4081256	46	4691											
CARS2	79587	broad.mit.edu	37	chr13	111358330	111358330	+	Frame_Shift_Del	DEL	C	C	-																															tgcagccaggcccgcccgcgCcccccgctcgccgcccggcc																										TCGA-EJ-7330-01A-11D-2114-08	TCGA-EJ-7330-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	478b235e-7e7f-4dbb-810b-44a50240b359	30f84a45-9998-47d3-87da-030f357d928e	g.chr13:111358330delC	ENST00000257347.4	-	1	174	c.111delG	c.(109-111)gggfs	p.G37fs	CARS2_ENST00000535398.1_Intron	NM_024537.2	NP_078813.1	Q9HA77	SYCM_HUMAN	cysteinyl-tRNA synthetase 2, mitochondrial (putative)	37					cysteinyl-tRNA aminoacylation (GO:0006423)|gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|cysteine-tRNA ligase activity (GO:0004817)|metal ion binding (GO:0046872)			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(2)|prostate(4)|skin(1)	13	all_lung(23;3.61e-05)|Lung NSC(43;0.00144)|Lung SC(71;0.0753)|all_neural(89;0.077)|Medulloblastoma(90;0.148)		BRCA - Breast invasive adenocarcinoma(86;0.163)		L-Cysteine(DB00151)	cccgcccgcgccccccgctcg	0.781																																						ENST00000257347.4																			0				autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(2)|prostate(4)|skin(1)	13						c.(109-111)ggfs		cysteinyl-tRNA synthetase 2, mitochondrial (putative)	L-Cysteine(DB00151)						4	3	4					13																	111358330		1811	3496	5307	SO:0001589	frameshift_variant	79587				cysteinyl-tRNA aminoacylation	cytosol|mitochondrial matrix	ATP binding|cysteine-tRNA ligase activity|metal ion binding	g.chr13:111358330delC	BC007220	CCDS9514.1	13q34	2011-07-01	2007-02-22		ENSG00000134905	ENSG00000134905	6.1.1.16	"Aminoacyl tRNA synthetases / Class I"	25695	protein-coding gene	gene with protein product	"cysteine tRNA ligase 2, mitochondrial (putative)"	612800				15779907	Standard	NM_024537		Approved	FLJ12118	uc001vrd.2	Q9HA77	OTTHUMG00000017347	ENST00000257347.4:c.111delG	13.37:g.111358330delC	ENSP00000257347:p.Gly37fs					CARS2_ENST00000535398.1_Intron	p.G37fs	NM_024537.2	NP_078813.1	Q9HA77	SYCM_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.163)		1	174	-	all_lung(23;3.61e-05)|Lung NSC(43;0.00144)|Lung SC(71;0.0753)|all_neural(89;0.077)|Medulloblastoma(90;0.148)		37					Q8NI84|Q96IV4	Frame_Shift_Del	DEL	ENST00000257347.4	37	c.111delG	CCDS9514.1																																																																																				0.781	CARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045772.3	NM_024537		2	4						2	4	---	---	---	---	-	111358330	C	-	111358330	7	5	91	1	0	1	0	1	0	0	0	0	2658	726	26	0	1643	0	CARS2	13	111358330	Frame_Shift_Del	DEL	C	TCGA-EJ-7330-01A-11D-2114-08	269708	111358330	3811548	47	4692											
FOXA1	3169	broad.mit.edu	37	chr14	38061231	38061231	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtagcagccgttctcgaacAtgttgccggagtccgggtgc	7	9	14	11	4	1	0	0	0	1	0	3	2	2	1	3	2	5	4	3	2	2	3			TCGA-EJ-7330-01A-11D-2114-08	TCGA-EJ-7330-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	478b235e-7e7f-4dbb-810b-44a50240b359	30f84a45-9998-47d3-87da-030f357d928e	g.chr14:38061231A>G	ENST00000250448.2	-	2	819	c.758T>C	c.(757-759)aTg>aCg	p.M253T	FOXA1_ENST00000540786.1_Missense_Mutation_p.M220T|FOXA1_ENST00000545425.2_5'UTR	NM_004496.3	NP_004487.2	P55317	FOXA1_HUMAN	forkhead box A1	253					anatomical structure formation involved in morphogenesis (GO:0048646)|chromatin remodeling (GO:0006338)|dorsal/ventral neural tube patterning (GO:0021904)|epithelial cell maturation involved in prostate gland development (GO:0060743)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|epithelial-mesenchymal signaling involved in prostate gland development (GO:0060738)|glucose homeostasis (GO:0042593)|hormone metabolic process (GO:0042445)|lung epithelial cell differentiation (GO:0060487)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron fate specification (GO:0048665)|positive regulation of cell-cell adhesion mediated by cadherin (GO:2000049)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prostate gland epithelium morphogenesis (GO:0060740)|prostate gland stromal morphogenesis (GO:0060741)|response to estradiol (GO:0032355)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)	microvillus (GO:0005902)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)	p.M253R(2)|p.M253K(2)		breast(1)|endometrium(1)|large_intestine(2)|lung(3)|prostate(12)	19	Breast(36;0.0954)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		Lung(238;5.41e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0454)|LUSC - Lung squamous cell carcinoma(13;0.0917)|all cancers(34;0.0925)|BRCA - Breast invasive adenocarcinoma(188;0.239)	GBM - Glioblastoma multiforme(112;0.0222)		GTTCTCGAACATGTTGCCGGA	0.687																																						ENST00000250448.2																			4	Substitution - Missense(4)	p.M253R(2)|p.M253K(2)	prostate(4)	breast(1)|endometrium(1)|large_intestine(2)|lung(3)|prostate(12)	19						c.(757-759)aTg>aCg		forkhead box A1							26	26	26					14																	38061231		2203	4300	6503	SO:0001583	missense	3169				chromatin remodeling|embryo development|epithelial cell maturation involved in prostate gland development|epithelial tube branching involved in lung morphogenesis|epithelial-mesenchymal signaling involved in prostate gland development|glucose homeostasis|lung epithelial cell differentiation|negative regulation of survival gene product expression|neuron fate specification|pattern specification process|positive regulation of estrogen receptor signaling pathway|positive regulation of mitotic cell cycle|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|prostate gland epithelium morphogenesis|prostate gland stromal morphogenesis|response to estradiol stimulus|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development	transcription factor complex	DNA bending activity|double-stranded DNA binding|protein domain specific binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding	g.chr14:38061231A>G	U39840	CCDS9665.1	14q12-q13	2008-04-10		2002-09-20	ENSG00000129514	ENSG00000129514		"Forkhead boxes"	5021	protein-coding gene	gene with protein product		602294	"hepatocyte nuclear factor 3, alpha"	HNF3A		9119385, 8652662	Standard	NM_004496		Approved		uc001wuf.4	P55317	OTTHUMG00000140253	ENST00000250448.2:c.758T>C	14.37:g.38061231A>G	ENSP00000250448:p.Met253Thr					FOXA1_ENST00000545425.2_5'UTR|FOXA1_ENST00000540786.1_Missense_Mutation_p.M220T	p.M253T	NM_004496.3	NP_004487.2	P55317	FOXA1_HUMAN	Lung(238;5.41e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0454)|LUSC - Lung squamous cell carcinoma(13;0.0917)|all cancers(34;0.0925)|BRCA - Breast invasive adenocarcinoma(188;0.239)	GBM - Glioblastoma multiforme(112;0.0222)	2	819	-	Breast(36;0.0954)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		253					B2R9H6|B7ZAP5|Q9H2A0	Missense_Mutation	SNP	ENST00000250448.2	37	c.758T>C	CCDS9665.1	.	.	.	.	.	.	.	.	.	.	A	19.95	3.922019	0.73213	.	.	ENSG00000129514	ENST00000250448;ENST00000540786	D;D	0.95377	-3.69;-3.69	3.92	3.92	0.45320	Winged helix-turn-helix transcription repressor DNA-binding (1);Transcription factor, fork head (3);	0.000000	0.85682	D	0.000000	D	0.97489	0.9178	M	0.86028	2.79	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	D	0.97912	1.0309	10	0.87932	D	0	.	11.8486	0.52399	1.0:0.0:0.0:0.0	.	253	P55317	FOXA1_HUMAN	T	253;220	ENSP00000250448:M253T;ENSP00000440178:M220T	ENSP00000250448:M253T	M	-	2	0	FOXA1	37130982	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.933000	0.92911	1.648000	0.50643	0.329000	0.21502	ATG		0.687	FOXA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276735.1			4	28	0	0	0	1	0	4	28					G	38061231	A	G	38061231	3	3	91	1	0	0	0	0	1	0	0	0	5989	217	8	4	664	4	FOXA1	14	38061231	Missense_Mutation	SNP	A	TCGA-EJ-7330-01A-11D-2114-08		38061231	69288309	48	4693											
CATSPERB	79820	broad.mit.edu	37	chr14	92139267	92139267	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttggtcaacaagaaatgttaGcacagttggaaaaattttta	16	13	8	4	0	1	1	1	0	0	1	1	2	1	2	0	2	2	3	0	2	7	6			TCGA-EJ-7330-01A-11D-2114-08	TCGA-EJ-7330-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	478b235e-7e7f-4dbb-810b-44a50240b359	30f84a45-9998-47d3-87da-030f357d928e	g.chr14:92139267G>A	ENST00000256343.3	-	13	1228	c.1072C>T	c.(1072-1074)Cta>Tta	p.L358L		NM_024764.2	NP_079040.2	Q9H7T0	CTSRB_HUMAN	catsper channel auxiliary subunit beta	358					cell differentiation (GO:0030154)|multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)|spermatogenesis (GO:0007283)	CatSper complex (GO:0036128)|cilium (GO:0005929)|plasma membrane (GO:0005886)				NS(1)|breast(4)|central_nervous_system(1)|kidney(3)|large_intestine(15)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(2)	54		all_cancers(154;0.0663)|all_epithelial(191;0.236)				AGAAATGTTAGCACAGTTGGA	0.368																																						ENST00000256343.3																			0				NS(1)|breast(4)|central_nervous_system(1)|kidney(3)|large_intestine(15)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(2)	54						c.(1072-1074)Cta>Tta		catsper channel auxiliary subunit beta							94	101	98					14																	92139267		2203	4299	6502	SO:0001819	synonymous_variant	79820				cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane		g.chr14:92139267G>A	AK024360	CCDS32142.1	14q32.12	2012-02-22	2012-02-22	2007-10-18	ENSG00000133962	ENSG00000133962			20500	protein-coding gene	gene with protein product		611169	"chromosome 14 open reading frame 161", "cation channel, sperm-associated, beta"	C14orf161		17478420	Standard	NM_024764		Approved	FLJ14298	uc001xzs.1	Q9H7T0	OTTHUMG00000171118	ENST00000256343.3:c.1072C>T	14.37:g.92139267G>A							p.L358L	NM_024764.2	NP_079040.2	Q9H7T0	CTSRB_HUMAN			13	1228	-		all_cancers(154;0.0663)|all_epithelial(191;0.236)	358					A0AV51	Silent	SNP	ENST00000256343.3	37	c.1072C>T	CCDS32142.1																																																																																				0.368	CATSPERB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411769.1	NM_024764		4	135	0	0	0	1	0	4	135					A	92139267	G	A	92139267	2	1	91	1	0	0	0	0	0	0	0	1	2691	962	34	3		3	CATSPERB	14	92139267	Silent	SNP	G	TCGA-EJ-7330-01A-11D-2114-08	54078036	92139267	15210273	49	4694											
MAP1A	4130	broad.mit.edu	37	chr15	43815432	43815432	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccagggctgggacaagaagaAcatgtgatgaaggagaaaga	17	4	15	5	0	0	6	0	2	0	4	0	8	0	7	1	3	1	1	1	3	5	0			TCGA-EJ-7330-01A-11D-2114-08	TCGA-EJ-7330-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	478b235e-7e7f-4dbb-810b-44a50240b359	30f84a45-9998-47d3-87da-030f357d928e	g.chr15:43815432A>G	ENST00000300231.5	+	4	2211	c.1761A>G	c.(1759-1761)gaA>gaG	p.E587E	MAP1A_ENST00000382031.1_Silent_p.E825E|MAP1A_ENST00000399453.1_Silent_p.E587E			P78559	MAP1A_HUMAN	microtubule-associated protein 1A	587					microtubule cytoskeleton organization (GO:0000226)|sensory perception of sound (GO:0007605)	cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)	structural molecule activity (GO:0005198)			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	GACAAGAAGAACATGTGATGA	0.537																																						ENST00000382031.1																			0				breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66						c.(2473-2475)gaA>gaG		microtubule-associated protein 1A	Estramustine(DB01196)						37	38	37					15																	43815432		1935	4136	6071	SO:0001819	synonymous_variant	4130					cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity	g.chr15:43815432A>G	U38292	CCDS42031.1	15q15.3	2006-06-15			ENSG00000166963	ENSG00000166963			6835	protein-coding gene	gene with protein product		600178		MAP1L		7806212, 7629894	Standard	XM_005254385		Approved		uc001zrt.3	P78559	OTTHUMG00000059756	ENST00000300231.5:c.1761A>G	15.37:g.43815432A>G						MAP1A_ENST00000300231.5_Silent_p.E587E|MAP1A_ENST00000399453.1_Silent_p.E587E	p.E825E			P78559	MAP1A_HUMAN		GBM - Glioblastoma multiforme(94;3.05e-06)	5	2506	+		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)	587					O95643|Q12973|Q15882|Q9UJT4	Silent	SNP	ENST00000300231.5	37	c.2475A>G	CCDS42031.1																																																																																				0.537	MAP1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000132894.5	NM_002373		6	22	0	0	0	1	0	6	22					G	43815432	A	G	43815432	2	3	91	1	0	0	0	0	0	0	0	1	9227	40	2	4		4	MAP1A	15	43815432	Silent	SNP	A	TCGA-EJ-7330-01A-11D-2114-08		43815432	58715960	50	4695											
HAPLN3	145864	broad.mit.edu	37	chr15	89424631	89424631	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgctttcatcctccagcccGtcaatgacctcacagcggta	8	9	7	17	3	3	1	3	1	0	0	5	1	5	1	5	1	2	2	5	1	2	2	rs369076877		TCGA-EJ-7330-01A-11D-2114-08	TCGA-EJ-7330-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	478b235e-7e7f-4dbb-810b-44a50240b359	30f84a45-9998-47d3-87da-030f357d928e	g.chr15:89424631G>A	ENST00000359595.3	-	3	664	c.450C>T	c.(448-450)gaC>gaT	p.D150D	HAPLN3_ENST00000562889.1_Silent_p.D212D	NM_178232.2	NP_839946.1	Q96S86	HPLN3_HUMAN	hyaluronan and proteoglycan link protein 3	150	Ig-like V-type. {ECO:0000305}.				cell adhesion (GO:0007155)	extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	hyaluronic acid binding (GO:0005540)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)	17	Lung NSC(78;0.0392)|all_lung(78;0.077)				Hyaluronan(DB08818)	CCTCCAGCCCGTCAATGACCT	0.627																																						ENST00000359595.3																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)	17						c.(448-450)gaC>gaT		hyaluronan and proteoglycan link protein 3							100	78	86					15																	89424631		2200	4299	6499	SO:0001819	synonymous_variant	145864				cell adhesion	proteinaceous extracellular matrix	hyaluronic acid binding	g.chr15:89424631G>A	AY262759	CCDS10346.1	15q26.1	2013-01-11			ENSG00000140511	ENSG00000140511		"Immunoglobulin superfamily / V-set domain containing"	21446	protein-coding gene	gene with protein product			"extracellular link domain containing, 1"	EXLD1		12663660	Standard	NM_178232		Approved	HsT19883	uc002bnc.3	Q96S86	OTTHUMG00000148680	ENST00000359595.3:c.450C>T	15.37:g.89424631G>A						HAPLN3_ENST00000562889.1_Silent_p.D212D	p.D150D	NM_178232.2	NP_839946.1	Q96S86	HPLN3_HUMAN			3	664	-	Lung NSC(78;0.0392)|all_lung(78;0.077)		150			Ig-like V-type.		A8K7P0	Silent	SNP	ENST00000359595.3	37	c.450C>T	CCDS10346.1																																																																																				0.627	HAPLN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309070.1	NM_178232		30	98	0	0	0	1	0	30	98					A	89424631	G	A	89424631	2	1	91	1	0	0	0	0	0	0	0	1	6956	1136	40	1		1	HAPLN3	15	89424631	Silent	SNP	G	TCGA-EJ-7330-01A-11D-2114-08	45609199	89424631	13106761	51	4696											
PRR25	388199	broad.mit.edu	37	chr16	857600	857600	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cgtcttctgtccctgcatttAgagaagggggatggcaaagg	9	10	14	8	1	2	1	0	0	2	1	3	3	3	2	1	4	1	2	1	4	3	3			TCGA-EJ-7330-01A-11D-2114-08	TCGA-EJ-7330-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	478b235e-7e7f-4dbb-810b-44a50240b359	30f84a45-9998-47d3-87da-030f357d928e	g.chr16:857600A>C	ENST00000301698.1	+	2	597	c.597A>C	c.(595-597)ttA>ttC	p.L199F		NM_001013638.1	NP_001013660.1	Q96S07	PRR25_HUMAN	proline rich 25	199										large_intestine(1)|lung(1)|skin(1)	3						CCCTGCATTTAGAGAAGGGGG	0.701																																						ENST00000301698.1																			0				large_intestine(1)|lung(1)|skin(1)	3						c.(595-597)ttA>ttC		proline rich 25							13	14	14					16																	857600		1453	3405	4858	SO:0001583	missense	388199							g.chr16:857600A>C	BC156145	CCDS45372.1	16p13.3	2009-09-11			ENSG00000167945	ENSG00000167945			37230	protein-coding gene	gene with protein product						11157797	Standard	NM_001013638		Approved	gs64	uc010uut.2	Q96S07		ENST00000301698.1:c.597A>C	16.37:g.857600A>C	ENSP00000301698:p.Leu199Phe						p.L199F	NM_001013638.1	NP_001013660.1	Q96S07	PRR25_HUMAN			2	597	+			199						Missense_Mutation	SNP	ENST00000301698.1	37	c.597A>C	CCDS45372.1	.	.	.	.	.	.	.	.	.	.	A	8.692	0.907690	0.17833	.	.	ENSG00000167945	ENST00000301698	T	0.41758	0.99	0.421	-0.74	0.11115	.	.	.	.	.	T	0.38427	0.1040	N	0.14661	0.345	0.09310	N	1	D	0.62365	0.991	D	0.65323	0.934	T	0.27123	-1.0083	8	0.87932	D	0	.	.	.	.	.	199	Q96S07	PRR25_HUMAN	F	199	ENSP00000301698:L199F	ENSP00000301698:L199F	L	+	3	2	PRR25	797601	0.010000	0.17322	0.019000	0.16419	0.019000	0.09904	0.123000	0.15708	-0.466000	0.06943	-0.475000	0.04921	TTA		0.701	PRR25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440563.1	NM_001013638		5	52	0	0	0	1	0	5	52					C	857600	A	C	857600	3	2	91	1	0	0	0	0	1	0	0	0	12597	417	15	5	603	5	PRR25	16	857600	Missense_Mutation	SNP	A	TCGA-EJ-7330-01A-11D-2114-08		857600	89497153	52	4697											
EME2	197342	broad.mit.edu	37	chr16	1824298	1824300	+	In_Frame_Del	DEL	TGC	TGC	-																															ggctgcaggtgaacaggaatTgctgctgctgctggagcccg																										TCGA-EJ-7330-01A-11D-2114-08	TCGA-EJ-7330-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	478b235e-7e7f-4dbb-810b-44a50240b359	30f84a45-9998-47d3-87da-030f357d928e	g.chr16:1824298_1824300delTGC	ENST00000568449.1	+	3	443_445	c.422_424delTGC	c.(421-426)ttgctg>ttg	p.141_142LL>L	NME3_ENST00000219302.3_5'Flank|MRPS34_ENST00000177742.3_5'Flank|MRPS34_ENST00000397375.2_5'Flank|NME3_ENST00000563498.1_5'Flank|EME2_ENST00000307394.7_In_Frame_Del_p.141_142LL>L	NM_001257370.1	NP_001244299.1	A4GXA9	EME2_HUMAN	essential meiotic structure-specific endonuclease subunit 2	141					DNA recombination (GO:0006310)|DNA repair (GO:0006281)	nucleus (GO:0005634)	DNA binding (GO:0003677)|endonuclease activity (GO:0004519)			central_nervous_system(1)|kidney(2)|lung(5)|pancreas(1)	9						GAACAGGAATTGCTGCTGCTGCT	0.655								Direct reversal of damage;Homologous recombination																														ENST00000307394.7																			0				central_nervous_system(1)|kidney(2)|lung(5)|pancreas(1)	9						c.(421-426)ttg>t	Direct reversal of damage;Homologous recombination	essential meiotic structure-specific endonuclease subunit 2																																				SO:0001651	inframe_deletion	197342				DNA recombination|DNA repair	nucleus	DNA binding|endonuclease activity	g.chr16:1824298_1824300delTGC	AK074080	CCDS58404.1	16p13.3	2013-07-03	2013-07-03			ENSG00000197774			27289	protein-coding gene	gene with protein product	"SLX2 structure-specific endonuclease subunit homolog B (S. cerevisiae)"	610886	"essential meiotic endonuclease 1 homolog 2 (S. pombe)"			12721304	Standard	NM_001257370		Approved	FLJ00151, SLX2B	uc010brw.1	A4GXA9		ENST00000568449.1:c.422_424delTGC	16.37:g.1824307_1824309delTGC	ENSP00000457353:p.Leu145del					EME2_ENST00000568449.1_In_Frame_Del_p.LL143del	p.LL143del			A4GXA9	EME2_HUMAN			3	422_424	+			143					Q8TEP2|Q96RY3	In_Frame_Del	DEL	ENST00000568449.1	37	c.422_424delTGC	CCDS58404.1																																																																																				0.655	EME2-001	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000433185.2	NM_001010865		8	205						8	205	---	---	---	---	-	1824300	TGC	-	1824298	7	5	91	1	0	1	0	1	0	0	0	0	5089	1821	63	0	432	0	EME2	16	1824298	In_Frame_Del	DEL	TGC	TCGA-EJ-7330-01A-11D-2114-08	966698	1824298	88530455	53	4698											
CCDC101	112869	broad.mit.edu	37	chr16	28597027	28597027	+	Frame_Shift_Del	DEL	A	A	-																															acaaccgccaaggccgatgcAgaggctgagtgcaagtgagt																										TCGA-EJ-7330-01A-11D-2114-08	TCGA-EJ-7330-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	478b235e-7e7f-4dbb-810b-44a50240b359	30f84a45-9998-47d3-87da-030f357d928e	g.chr16:28597027delA	ENST00000317058.3	+	4	397	c.210delA	c.(208-210)gcafs	p.A70fs		NM_138414.2	NP_612423.1	Q96ES7	SGF29_HUMAN	coiled-coil domain containing 101	70					chromatin organization (GO:0006325)|establishment of protein localization to chromatin (GO:0071169)|histone H3 acetylation (GO:0043966)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|SAGA-type complex (GO:0070461)	methylated histone binding (GO:0035064)			central_nervous_system(2)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)	10						AGGCCGATGCAGAGGCTGAGT	0.607																																						ENST00000317058.3																			0				central_nervous_system(2)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)	10						c.(208-210)gcfs		coiled-coil domain containing 101							119	88	99					16																	28597027		2197	4300	6497	SO:0001589	frameshift_variant	112869				establishment of protein localization to chromatin|histone H3 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Ada2/Gcn5/Ada3 transcription activator complex|SAGA-type complex	methylated histone residue binding	g.chr16:28597027delA	AK057008	CCDS10635.1	16p11.2	2010-08-03			ENSG00000176476	ENSG00000176476			25156	protein-coding gene	gene with protein product	"SAGA-associated factor 29 homolog (yeast)"	613374				17334388	Standard	NM_138414		Approved	FLJ32446, SGF29	uc002dqf.3	Q96ES7	OTTHUMG00000131763	ENST00000317058.3:c.210delA	16.37:g.28597027delA	ENSP00000316114:p.Ala70fs						p.A70fs	NM_138414.2	NP_612423.1	Q96ES7	SGF29_HUMAN			4	397	+			70					Q96MF5	Frame_Shift_Del	DEL	ENST00000317058.3	37	c.210delA	CCDS10635.1																																																																																				0.607	CCDC101-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254691.1	NM_138414		21	93						21	93	---	---	---	---	-	28597027	A	-	28597027	7	5	91	1	0	1	0	1	0	0	0	0	2735	175	7	0	220	0	CCDC101	16	28597027	Frame_Shift_Del	DEL	A	TCGA-EJ-7330-01A-11D-2114-08	26772729	28597027	61757726	54	4699											
CDH11	1009	broad.mit.edu	37	chr16	65005959	65005959	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggactttggcttcctgatGccgattgtctgggaagacag	7	12	14	8	1	1	2	0	1	1	1	2	5	2	4	2	3	1	1	2	3	1	3			TCGA-EJ-7330-01A-11D-2114-08	TCGA-EJ-7330-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	478b235e-7e7f-4dbb-810b-44a50240b359	30f84a45-9998-47d3-87da-030f357d928e	g.chr16:65005959G>T	ENST00000268603.4	-	10	2014	c.1399C>A	c.(1399-1401)Cat>Aat	p.H467N	CDH11_ENST00000566827.1_Missense_Mutation_p.H341N|CDH11_ENST00000394156.3_Missense_Mutation_p.H467N	NM_001797.2	NP_001788.2	P55287	CAD11_HUMAN	cadherin 11, type 2, OB-cadherin (osteoblast)	467	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|corticospinal tract morphogenesis (GO:0021957)|homophilic cell adhesion (GO:0007156)|ossification (GO:0001503)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(19)|lung(40)|ovary(3)|prostate(3)|skin(2)|urinary_tract(2)	88		Ovarian(137;0.0973)		OV - Ovarian serous cystadenocarcinoma(108;0.205)		GCTTCCTGATGCCGATTGTCT	0.478			T	USP6	aneurysmal bone cysts					TSP Lung(24;0.17)																												ENST00000394156.3				Dom	yes		16	16q22.1	1009	T	"cadherin 11, type 2, OB-cadherin (osteoblast)"			M	USP6		aneurysmal bone cysts		0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(19)|lung(40)|ovary(3)|prostate(3)|skin(2)|urinary_tract(2)	88						c.(1399-1401)Cat>Aat		cadherin 11, type 2, OB-cadherin (osteoblast)							91	79	83					16																	65005959		2203	4300	6503	SO:0001583	missense	1009				adherens junction organization|cell junction assembly|homophilic cell adhesion|ossification|skeletal system development	integral to membrane|plasma membrane	calcium ion binding|protein binding	g.chr16:65005959G>T	D21255	CCDS10803.1	16q21	2010-01-26			ENSG00000140937	ENSG00000140937		"Cadherins / Major cadherins"	1750	protein-coding gene	gene with protein product	"OB-Cadherin"	600023				9615235	Standard	NM_001797		Approved	OB, CAD11	uc002eoi.3	P55287	OTTHUMG00000137494	ENST00000268603.4:c.1399C>A	16.37:g.65005959G>T	ENSP00000268603:p.His467Asn	TSP Lung(24;0.17)				CDH11_ENST00000268603.4_Missense_Mutation_p.H467N|CDH11_ENST00000566827.1_Missense_Mutation_p.H341N	p.H467N			P55287	CAD11_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.205)	10	1852	-		Ovarian(137;0.0973)	467			Cadherin 4.		A8K5D6|A8MZC8|B7WP28|Q15065|Q15066|Q9UQ93|Q9UQ94	Missense_Mutation	SNP	ENST00000268603.4	37	c.1399C>A	CCDS10803.1	.	.	.	.	.	.	.	.	.	.	G	13.06	2.124306	0.37533	.	.	ENSG00000140937	ENST00000268603;ENST00000394156;ENST00000538390	T;T	0.48836	0.8;0.8	5.91	5.91	0.95273	Cadherin (4);Cadherin-like (1);	0.150804	0.64402	D	0.000012	T	0.33030	0.0849	N	0.12887	0.27	0.45205	D	0.998215	P;B	0.41265	0.744;0.001	B;B	0.41510	0.359;0.012	T	0.09975	-1.0650	10	0.27785	T	0.31	.	14.1587	0.65432	0.0:0.0:0.8504:0.1496	.	467;467	P55287-2;P55287	.;CAD11_HUMAN	N	467;467;450	ENSP00000268603:H467N;ENSP00000377711:H467N	ENSP00000268603:H467N	H	-	1	0	CDH11	63563460	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.737000	0.55060	2.813000	0.96785	0.655000	0.94253	CAT		0.478	CDH11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268755.1	NM_033664		6	47	1	0	0.00307968	1	0.00326354	6	47					T	65005959	G	T	65005959	3	4	91	1	0	0	0	0	1	0	0	0	3097	1319	46	5	1007	5	CDH11	16	65005959	Missense_Mutation	SNP	G	TCGA-EJ-7330-01A-11D-2114-08	36408932	65005959	25348794	55	4700											
DPEP3	64180	broad.mit.edu	37	chr16	68010634	68010634	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcataatttccaccaatccCgatgaactcagatccaatga	14	10	5	12	1	2	3	2	2	0	1	5	4	5	3	4	0	1	0	4	0	4	2	rs199567405		TCGA-EJ-7330-01A-11D-2114-08	TCGA-EJ-7330-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	478b235e-7e7f-4dbb-810b-44a50240b359	30f84a45-9998-47d3-87da-030f357d928e	g.chr16:68010634C>T	ENST00000268793.4	-	8	1511	c.1138G>A	c.(1138-1140)Ggg>Agg	p.G380R	DPEP3_ENST00000574342.1_5'Flank	NM_001129758.1|NM_022357.3	NP_001123230.1|NP_071752.3	Q9H4B8	DPEP3_HUMAN	dipeptidase 3	355					male meiosis (GO:0007140)	anchored component of membrane (GO:0031225)	dipeptidase activity (GO:0016805)|dipeptidyl-peptidase activity (GO:0008239)|metal ion binding (GO:0046872)|metalloexopeptidase activity (GO:0008235)			breast(4)|endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(2)	20		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0117)|Epithelial(162;0.0481)|all cancers(182;0.236)		CCACCAATCCCGATGAACTCA	0.552													C|||	1	0.000199681	0	0	5008	,	,		21818	0		0.001	False		,,,				2504	0					ENST00000268793.4																			0				breast(4)|endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(2)	20						c.(1138-1140)Ggg>Agg		dipeptidase 3							121	93	102					16																	68010634		2198	4300	6498	SO:0001583	missense	64180				meiosis	anchored to membrane	dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metalloexopeptidase activity	g.chr16:68010634C>T	AJ291679	CCDS10856.1	16q22.1	2011-07-22			ENSG00000141096	ENSG00000141096	3.4.13.19		23029	protein-coding gene	gene with protein product		609926					Standard	NM_022357		Approved		uc002evc.4	Q9H4B8	OTTHUMG00000137544	ENST00000268793.4:c.1138G>A	16.37:g.68010634C>T	ENSP00000268793:p.Gly380Arg						p.G380R	NM_001129758.1|NM_022357.3	NP_001123230.1|NP_071752.3	Q9H4B8	DPEP3_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0117)|Epithelial(162;0.0481)|all cancers(182;0.236)	8	1511	-		Ovarian(137;0.192)	355					B3KQ48|Q6PEZ5|Q6UXE4	Missense_Mutation	SNP	ENST00000268793.4	37	c.1138G>A	CCDS10856.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	28.8	4.953251	0.92660	.	.	ENSG00000141096	ENST00000268793	T	0.48522	0.81	4.66	4.66	0.58398	.	0.000000	0.85682	D	0.000000	T	0.79125	0.4393	H	0.96691	3.865	0.80722	D	1	D	0.89917	1.0	D	0.78314	0.991	D	0.86783	0.1980	10	0.87932	D	0	-1.0784	16.4999	0.84254	0.0:1.0:0.0:0.0	.	355	Q9H4B8	DPEP3_HUMAN	R	380	ENSP00000268793:G380R	ENSP00000268793:G380R	G	-	1	0	DPEP3	66568135	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	5.116000	0.64661	2.420000	0.82092	0.655000	0.94253	GGG		0.552	DPEP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268875.3	NM_022357		7	46	0	0	0	1	0	7	46					T	68010634	C	T	68010634	3	4	91	1	0	0	0	0	1	0	0	0	4715	652	23	2	415	2	DPEP3	16	68010634	Missense_Mutation	SNP	C	TCGA-EJ-7330-01A-11D-2114-08	3004675	68010634	22344119	56	4701											
THRA	7067	broad.mit.edu	37	chr17	38233836	38233836	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggcaactggttatcactaccGctgtatcacttgtgagggct	8	12	11	10	1	2	1	2	1	0	0	2	1	2	1	1	3	2	5	1	3	4	4			TCGA-EJ-7330-01A-11D-2114-08	TCGA-EJ-7330-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	478b235e-7e7f-4dbb-810b-44a50240b359	30f84a45-9998-47d3-87da-030f357d928e	g.chr17:38233836G>A	ENST00000264637.4	+	4	777	c.197G>A	c.(196-198)cGc>cAc	p.R66H	THRA_ENST00000584985.1_Missense_Mutation_p.R66H|THRA_ENST00000394121.4_Missense_Mutation_p.R66H|THRA_ENST00000546243.1_Missense_Mutation_p.R66H|THRA_ENST00000450525.2_Missense_Mutation_p.R66H	NM_003250.5	NP_003241.2	P10827	THA_HUMAN	thyroid hormone receptor, alpha	66					cartilage condensation (GO:0001502)|cytoplasmic sequestering of transcription factor (GO:0042994)|erythrocyte differentiation (GO:0030218)|female courtship behavior (GO:0008050)|gene expression (GO:0010467)|hormone-mediated signaling pathway (GO:0009755)|learning or memory (GO:0007611)|negative regulation of DNA-templated transcription, initiation (GO:2000143)|negative regulation of RNA polymerase II transcriptional preinitiation complex assembly (GO:0017055)|negative regulation of transcription, DNA-templated (GO:0045892)|ossification (GO:0001503)|positive regulation of female receptivity (GO:0045925)|positive regulation of myotube differentiation (GO:0010831)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of heart contraction (GO:0008016)|regulation of lipid catabolic process (GO:0050994)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of thyroid hormone mediated signaling pathway (GO:0002155)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to cold (GO:0009409)|thyroid gland development (GO:0030878)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|Type I pneumocyte differentiation (GO:0060509)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|protein domain specific binding (GO:0019904)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|steroid receptor RNA activator RNA binding (GO:0002153)|TBP-class protein binding (GO:0017025)|thyroid hormone binding (GO:0070324)|thyroid hormone receptor activity (GO:0004887)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(3)|large_intestine(2)|lung(4)|prostate(1)	11	Colorectal(19;0.000442)	Myeloproliferative disorder(1115;0.0255)			Dextrothyroxine(DB00509)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)	TATCACTACCGCTGTATCACT	0.552																																						ENST00000450525.2																			0				endometrium(1)|kidney(3)|large_intestine(2)|lung(4)|prostate(1)	11						c.(196-198)cGc>cAc		thyroid hormone receptor, alpha	Levothyroxine(DB00451)|Liothyronine(DB00279)						218	171	187					17																	38233836		2203	4300	6503	SO:0001583	missense	7067				negative regulation of RNA polymerase II transcriptional preinitiation complex assembly|negative regulation of transcription initiation, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription from RNA polymerase II promoter	cytosol|nucleoplasm	protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|TBP-class protein binding|thyroid hormone binding|thyroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr17:38233836G>A	J03239	CCDS11360.1, CCDS42316.1, CCDS58546.1	17q21.1	2013-01-16	2011-05-19		ENSG00000126351	ENSG00000126351		"Nuclear hormone receptors"	11796	protein-coding gene	gene with protein product		190120	"thyroid hormone receptor, alpha (avian erythroblastic leukemia viral (v-erb-a) oncogene homolog)", "thyroid hormone receptor, alpha (erythroblastic leukemia viral (v-erb-a) oncogene homolog, avian)"	THRA1, THRA2, ERBA1		6323162, 6589608	Standard	NM_003250		Approved	EAR-7.1/EAR-7.2, THRA3, AR7, ERBA, NR1A1	uc002htw.3	P10827	OTTHUMG00000133332	ENST00000264637.4:c.197G>A	17.37:g.38233836G>A	ENSP00000264637:p.Arg66His					THRA_ENST00000584985.1_Missense_Mutation_p.R66H|THRA_ENST00000394121.4_Missense_Mutation_p.R66H|THRA_ENST00000264637.4_Missense_Mutation_p.R66H|THRA_ENST00000546243.1_Missense_Mutation_p.R66H	p.R66H	NM_199334.3	NP_955366.1	P10827	THA_HUMAN			4	688	+	Colorectal(19;0.000442)	Myeloproliferative disorder(1115;0.0255)	66					A8K3B5|P21205|Q8N6A1|Q96H73	Missense_Mutation	SNP	ENST00000264637.4	37	c.197G>A	CCDS11360.1	.	.	.	.	.	.	.	.	.	.	G	29.6	5.023703	0.93462	.	.	ENSG00000126351	ENST00000394121;ENST00000264637;ENST00000450525;ENST00000546243	D;D;D;D	0.97279	-4.32;-4.32;-4.32;-4.32	5.84	4.87	0.63330	Zinc finger, NHR/GATA-type (1);Zinc finger, nuclear hormone receptor-type (5);	0.000000	0.85682	D	0.000000	D	0.97529	0.9191	L	0.50333	1.59	0.58432	D	0.999998	D;D;B	0.89917	1.0;1.0;0.073	D;D;B	0.97110	1.0;1.0;0.02	D	0.97724	1.0198	10	0.52906	T	0.07	.	13.6187	0.62123	0.0756:0.0:0.9244:0.0	.	66;66;66	P10827-3;P10827;Q6FH41	.;THA_HUMAN;.	H	66	ENSP00000377679:R66H;ENSP00000264637:R66H;ENSP00000395641:R66H;ENSP00000443972:R66H	ENSP00000264637:R66H	R	+	2	0	THRA	35487362	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.689000	0.98673	1.468000	0.48064	0.484000	0.47621	CGC		0.552	THRA-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000257160.2			20	154	0	0	0	1	0	20	154					A	38233836	G	A	38233836	3	1	91	1	0	0	0	0	1	0	0	0	15870	1087	38	1	207	1	THRA	17	38233836	Missense_Mutation	SNP	G	TCGA-EJ-7330-01A-11D-2114-08		38233836	42961374	57	4702											
SPOP	8405	broad.mit.edu	37	chr17	47696424	47696424	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctctacggatgaatttcttGaatccccagtctttgccttg	7	16	7	11	1	3	2	0	2	3	0	5	3	4	3	3	1	2	0	3	1	3	5	rs193921065		TCGA-EJ-7330-01A-11D-2114-08	TCGA-EJ-7330-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	478b235e-7e7f-4dbb-810b-44a50240b359	30f84a45-9998-47d3-87da-030f357d928e	g.chr17:47696424G>T	ENST00000393328.2	-	6	764	c.399C>A	c.(397-399)ttC>ttA	p.F133L	SPOP_ENST00000503676.1_Missense_Mutation_p.F133L|SPOP_ENST00000393331.3_Missense_Mutation_p.F133L|SPOP_ENST00000504102.1_Missense_Mutation_p.F133L|SPOP_ENST00000513080.1_5'Flank|SPOP_ENST00000347630.2_Missense_Mutation_p.F133L	NM_003563.3	NP_003554.1	O43791	SPOP_HUMAN	speckle-type POZ protein	133	Important for binding substrate proteins.|MATH. {ECO:0000255|PROSITE- ProRule:PRU00129}.|Required for nuclear localization.				glucose homeostasis (GO:0042593)|positive regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902237)|positive regulation of type B pancreatic cell apoptotic process (GO:2000676)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	Cul3-RING ubiquitin ligase complex (GO:0031463)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	ubiquitin protein ligase binding (GO:0031625)	p.F133L(7)		endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						TGAATTTCTTGAATCCCCAGT	0.448										Prostate(2;0.17)																												ENST00000393331.3																			7	Substitution - Missense(7)	p.F133L(7)	prostate(7)	endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						c.(397-399)ttC>ttA		speckle-type POZ protein							118	120	119					17																	47696424		2203	4300	6503	SO:0001583	missense	8405				mRNA processing	nucleus	protein binding	g.chr17:47696424G>T	AJ000644	CCDS11551.1	17q21.33	2013-01-09			ENSG00000121067	ENSG00000121067		"BTB/POZ domain containing"	11254	protein-coding gene	gene with protein product		602650				9414087	Standard	NM_001007227		Approved	TEF2, BTBD32	uc002ipg.3	O43791	OTTHUMG00000161496	ENST00000393328.2:c.399C>A	17.37:g.47696424G>T	ENSP00000377001:p.Phe133Leu	Prostate(2;0.17)				SPOP_ENST00000503676.1_Missense_Mutation_p.F133L|SPOP_ENST00000504102.1_Missense_Mutation_p.F133L|SPOP_ENST00000393328.2_Missense_Mutation_p.F133L|SPOP_ENST00000347630.2_Missense_Mutation_p.F133L	p.F133L	NM_001007226.1|NM_001007227.1	NP_001007227.1|NP_001007228.1	O43791	SPOP_HUMAN			7	869	-			133			MATH.|Required for nuclear localization.		B2R6S3|D3DTW7|Q53HJ1	Missense_Mutation	SNP	ENST00000393328.2	37	c.399C>A	CCDS11551.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.981900	0.74474	.	.	ENSG00000121067	ENST00000393328;ENST00000393331;ENST00000347630;ENST00000504102;ENST00000503536;ENST00000503676;ENST00000513872;ENST00000509079;ENST00000505581;ENST00000507970;ENST00000514121	T;T;T;T;T;T;T;T;T	0.41758	0.99;0.99;0.99;0.99;0.99;0.99;0.99;0.99;0.99	5.41	4.33	0.51752	TRAF-type (1);TRAF-like (1);MATH (3);	0.000000	0.85682	D	0.000000	T	0.58722	0.2142	M	0.80847	2.515	0.80722	D	1	P	0.52692	0.955	P	0.55087	0.768	T	0.62732	-0.6792	10	0.44086	T	0.13	-9.6576	13.4952	0.61421	0.0813:0.0:0.9187:0.0	.	133	O43791	SPOP_HUMAN	L	133;133;133;133;17;133;86;133;133;133;133	ENSP00000377001:F133L;ENSP00000377004:F133L;ENSP00000240327:F133L;ENSP00000425905:F133L;ENSP00000420908:F133L;ENSP00000426986:F133L;ENSP00000420960:F133L;ENSP00000426262:F133L;ENSP00000424119:F133L	ENSP00000240327:F133L	F	-	3	2	SPOP	45051423	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.591000	0.36665	1.345000	0.45676	0.563000	0.77884	TTC		0.448	SPOP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365154.2	NM_003563		15	135	1	0	1.15919e-05	1	1.247e-05	15	135					T	47696424	G	T	47696424	3	4	91	1	0	0	0	0	1	0	0	0	15083	1281	45	5	749	5	SPOP	17	47696424	Missense_Mutation	SNP	G	TCGA-EJ-7330-01A-11D-2114-08	9462588	47696424	33498786	58	4703											
CDC37	11140	broad.mit.edu	37	chr19	10506785	10506785	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctccagctccttcagtttcCtctggcactcggccaccttg	4	12	7	18	1	2	0	1	0	1	0	6	0	5	0	6	2	1	3	6	2	0	3			TCGA-EJ-7330-01A-11D-2114-08	TCGA-EJ-7330-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	478b235e-7e7f-4dbb-810b-44a50240b359	30f84a45-9998-47d3-87da-030f357d928e	g.chr19:10506785C>G	ENST00000222005.2	-	2	250	c.197G>C	c.(196-198)aGg>aCg	p.R66T		NM_007065.3	NP_008996.1	Q16543	CDC37_HUMAN	cell division cycle 37	66					protein targeting (GO:0006605)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of type I interferon-mediated signaling pathway (GO:0060338)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)|ruffle membrane (GO:0032587)	heat shock protein binding (GO:0031072)|unfolded protein binding (GO:0051082)			breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	16			OV - Ovarian serous cystadenocarcinoma(20;4.65e-10)|Epithelial(33;6.48e-07)|all cancers(31;2.31e-06)	GBM - Glioblastoma multiforme(1328;0.0318)		CTTCAGTTTCCTCTGGCACTC	0.677																																						ENST00000222005.2																			0				breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	16						c.(196-198)aGg>aCg		cell division cycle 37							85	88	87					19																	10506785		2203	4300	6503	SO:0001583	missense	11140				protein targeting|regulation of cyclin-dependent protein kinase activity|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway		unfolded protein binding	g.chr19:10506785C>G	U63131	CCDS12237.1	19p13.2	2013-01-17	2013-01-17		ENSG00000105401	ENSG00000105401			1735	protein-coding gene	gene with protein product	"CDC37 cell division cycle 37 homolog", "Hsp90 co-chaperone Cdc37", "CDC37 (cell division cycle 37, S. cerevisiae, homolog)"	605065	"CDC37 (cell division cycle 37, S. cerevisiae, homolog)", "CDC37 cell division cycle 37 homolog (S. cerevisiae)", "cell division cycle 37 homolog (S. cerevisiae)"			8703009, 8666233	Standard	NM_007065		Approved	P50CDC37	uc002mof.1	Q16543		ENST00000222005.2:c.197G>C	19.37:g.10506785C>G	ENSP00000222005:p.Arg66Thr						p.R66T	NM_007065.3	NP_008996.1	Q16543	CDC37_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;4.65e-10)|Epithelial(33;6.48e-07)|all cancers(31;2.31e-06)	GBM - Glioblastoma multiforme(1328;0.0318)	2	250	-			66					Q53YA2	Missense_Mutation	SNP	ENST00000222005.2	37	c.197G>C	CCDS12237.1	.	.	.	.	.	.	.	.	.	.	C	9.284	1.048901	0.19827	.	.	ENSG00000105401	ENST00000222005	T	0.44083	0.93	4.11	3.05	0.35203	Cdc37, N-terminal (1);	0.309736	0.29300	N	0.012551	T	0.28863	0.0716	L	0.34521	1.04	0.35523	D	0.801574	B;B	0.28470	0.213;0.213	B;B	0.31390	0.129;0.129	T	0.33085	-0.9882	10	0.42905	T	0.14	.	5.764	0.18217	0.0:0.7708:0.0:0.2292	.	66;66	Q6FG59;Q16543	.;CDC37_HUMAN	T	66	ENSP00000222005:R66T	ENSP00000222005:R66T	R	-	2	0	CDC37	10367785	0.900000	0.30661	1.000000	0.80357	0.412000	0.31113	0.460000	0.21924	2.013000	0.59113	0.555000	0.69702	AGG		0.677	CDC37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451987.1	NM_007065		27	122	0	0	0	1	0	27	122					G	10506785	C	G	10506785	3	3	91	1	0	0	0	0	1	0	0	0	3068	681	24	5	967	5	CDC37	19	10506785	Missense_Mutation	SNP	C	TCGA-EJ-7330-01A-11D-2114-08		10506785	48622198	59	4704											
ZNF737	100129842	broad.mit.edu	37	chr19	20728254	20728254	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atttgtagggtttctctccaCtatgaattatcttatgtgca	9	18	7	7	0	2	1	0	1	2	0	4	1	3	1	1	1	1	3	1	1	5	6			TCGA-EJ-7330-01A-11D-2114-08	TCGA-EJ-7330-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	478b235e-7e7f-4dbb-810b-44a50240b359	30f84a45-9998-47d3-87da-030f357d928e	g.chr19:20728254C>G	ENST00000427401.4	-	4	849	c.755G>C	c.(754-756)aGt>aCt	p.S252T		NM_001159293.1	NP_001152765.1	O75373	ZN737_HUMAN	zinc finger protein 737	252					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|kidney(1)|lung(7)|ovary(1)|stomach(1)|urinary_tract(1)	13						TTTCTCTCCACTATGAATTAT	0.403																																						ENST00000427401.4																			0				breast(2)|kidney(1)|lung(7)|ovary(1)|stomach(1)|urinary_tract(1)	13						c.(754-756)aGt>aCt		zinc finger protein 737							34	34	34					19																	20728254		692	1591	2283	SO:0001583	missense	100129842				regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	g.chr19:20728254C>G	BC015765	CCDS54238.1	19p12	2013-01-08						"Zinc fingers, C2H2-type", "-"	32468	protein-coding gene	gene with protein product		603984					Standard	NM_001159293		Approved	ZNF102	uc002npa.3	O75373		ENST00000427401.4:c.755G>C	19.37:g.20728254C>G	ENSP00000395733:p.Ser252Thr						p.S252T	NM_001159293.1	NP_001152765.1	C9JHM3	C9JHM3_HUMAN			4	849	-			252					C9JHM3	Missense_Mutation	SNP	ENST00000427401.4	37	c.755G>C	CCDS54238.1	.	.	.	.	.	.	.	.	.	.	-	0	-2.857622	0.00065	.	.	ENSG00000237440	ENST00000427401	T	0.12879	2.64	0.1	-0.2	0.13216	.	.	.	.	.	T	0.03871	0.0109	N	0.03050	-0.425	0.24703	N	0.993244	B	0.02656	0.0	B	0.06405	0.002	T	0.41413	-0.9510	9	0.02654	T	1	.	5.4374	0.16488	0.0:0.645:0.355:0.0	.	252	C9JHM3	.	T	252	ENSP00000395733:S252T	ENSP00000395733:S252T	S	-	2	0	ZNF737	20520094	0.066000	0.20996	0.041000	0.18516	0.041000	0.13682	0.057000	0.14279	-1.260000	0.02465	-1.278000	0.01390	AGT		0.403	ZNF737-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447844.2	NM_145289		3	41	0	0	0	1	0	3	41					G	20728254	C	G	20728254	3	3	91	1	0	0	0	0	1	0	0	0	18123	565	20	5	859	5	ZNF737	19	20728254	Missense_Mutation	SNP	C	TCGA-EJ-7330-01A-11D-2114-08	10221469	20728254	38400729	60	4705											
NPHS1	4868	broad.mit.edu	37	chr19	36333346	36333346	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cattgtccacaatgcactggTaagcgccagcctgggccagt	9	8	11	13	1	0	0	0	0	0	0	1	0	1	0	4	2	3	2	4	2	2	2			TCGA-EJ-7330-01A-11D-2114-08	TCGA-EJ-7330-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	478b235e-7e7f-4dbb-810b-44a50240b359	30f84a45-9998-47d3-87da-030f357d928e	g.chr19:36333346T>G	ENST00000378910.5	-	18	2440	c.2441A>C	c.(2440-2442)tAc>tCc	p.Y814S	NPHS1_ENST00000353632.6_Missense_Mutation_p.Y814S	NM_004646.3	NP_004637.1	O60500	NPHN_HUMAN	nephrosis 1, congenital, Finnish type (nephrin)	814	Ig-like C2-type 7.				cell adhesion (GO:0007155)|excretion (GO:0007588)|glomerular basement membrane development (GO:0032836)|glomerular visceral epithelial cell development (GO:0072015)|JNK cascade (GO:0007254)|myoblast fusion (GO:0007520)|positive regulation of actin filament polymerization (GO:0030838)|regulation of excretion (GO:0044062)|skeletal muscle tissue development (GO:0007519)	cell projection (GO:0042995)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|slit diaphragm (GO:0036057)	myosin binding (GO:0017022)			NS(2)|breast(1)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(1)|lung(26)|ovary(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			AATGCACTGGTAAGCGCCAGC	0.582																																						ENST00000378910.5																			0				NS(2)|breast(1)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(1)|lung(26)|ovary(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74						c.(2440-2442)tAc>tCc		nephrosis 1, congenital, Finnish type (nephrin)							88	82	84					19																	36333346		2203	4300	6503	SO:0001583	missense	4868				cell adhesion|excretion|muscle organ development	integral to plasma membrane		g.chr19:36333346T>G		CCDS32996.1	19q12-q13.1	2014-09-17				ENSG00000161270		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	7908	protein-coding gene	gene with protein product		602716				9915943, 9660941	Standard	NM_004646		Approved	CNF, NPHN	uc002oby.3	O60500		ENST00000378910.5:c.2441A>C	19.37:g.36333346T>G	ENSP00000368190:p.Tyr814Ser					NPHS1_ENST00000353632.6_Missense_Mutation_p.Y814S	p.Y814S	NM_004646.3	NP_004637.1	O60500	NPHN_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0515)		18	2440	-	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		814			Ig-like C2-type 7.		A6NDH2|C3RX61	Missense_Mutation	SNP	ENST00000378910.5	37	c.2441A>C	CCDS32996.1	.	.	.	.	.	.	.	.	.	.	T	19.70	3.876663	0.72180	.	.	ENSG00000161270	ENST00000378910;ENST00000353632	D;D	0.94280	-3.39;-3.39	4.46	4.46	0.54185	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.133094	0.52532	D	0.000076	D	0.96953	0.9005	M	0.92122	3.275	0.45930	D	0.998762	D	0.89917	1.0	D	0.77557	0.99	D	0.97226	0.9881	10	0.87932	D	0	-15.342	10.1106	0.42561	0.0:0.0:0.0:1.0	.	814	O60500	NPHN_HUMAN	S	814	ENSP00000368190:Y814S;ENSP00000343634:Y814S	ENSP00000343634:Y814S	Y	-	2	0	NPHS1	41025186	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	5.263000	0.65507	1.890000	0.54733	0.456000	0.33151	TAC		0.582	NPHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452553.1			19	103	0	0	0	1	0	19	103					G	36333346	T	G	36333346	3	3	91	1	0	0	0	0	1	0	0	0	10582	1638	57	5	1332	5	NPHS1	19	36333346	Missense_Mutation	SNP	T	TCGA-EJ-7330-01A-11D-2114-08	15605092	36333346	22795637	61	4706											
ZCCHC3	85364	broad.mit.edu	37	chr20	279150	279150	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatcgagctgcgccagggggAgggcggggtcaggcacttgc	6	5	20	10	3	1	0	1	0	0	0	2	3	1	1	1	6	3	2	1	6	0	1			TCGA-EJ-7330-01A-11D-2114-08	TCGA-EJ-7330-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	478b235e-7e7f-4dbb-810b-44a50240b359	30f84a45-9998-47d3-87da-030f357d928e	g.chr20:279150A>G	ENST00000382352.3	+	1	1414	c.923A>G	c.(922-924)gAg>gGg	p.E308G		NM_033089.6	NP_149080	Q9NUD5	ZCHC3_HUMAN	zinc finger, CCHC domain containing 3	308							poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(1)|lung(3)|prostate(2)	8		all_cancers(10;0.000209)|Lung NSC(37;0.0417)|all_lung(30;0.0713)|all_epithelial(17;0.0748)|Breast(17;0.231)	OV - Ovarian serous cystadenocarcinoma(29;0.149)			CGCCAGGGGGAGGGCGGGGTC	0.632																																						ENST00000382352.3																			0				endometrium(2)|large_intestine(1)|lung(3)|prostate(2)	8						c.(922-924)gAg>gGg		zinc finger, CCHC domain containing 3							47	53	51					20																	279150		1961	4143	6104	SO:0001583	missense	85364						nucleic acid binding|zinc ion binding	g.chr20:279150A>G	AL034548	CCDS42844.1	20p13-p12.2	2014-04-10	2004-07-14	2004-07-14	ENSG00000177764	ENSG00000247315		"Zinc fingers, CCHC domain containing"	16230	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 99"	C20orf99			Standard	NM_033089		Approved	dJ1103G7.7	uc002wdf.3	Q9NUD5	OTTHUMG00000188280	ENST00000382352.3:c.923A>G	20.37:g.279150A>G	ENSP00000371789:p.Glu308Gly						p.E308G	NM_033089.6	NP_149080.2	Q9NUD5	ZCHC3_HUMAN	OV - Ovarian serous cystadenocarcinoma(29;0.149)		1	1414	+		all_cancers(10;0.000209)|Lung NSC(37;0.0417)|all_lung(30;0.0713)|all_epithelial(17;0.0748)|Breast(17;0.231)	308					Q3B7J3|Q6NT79	Missense_Mutation	SNP	ENST00000382352.3	37	c.923A>G	CCDS42844.1	.	.	.	.	.	.	.	.	.	.	A	15.77	2.930635	0.52866	.	.	ENSG00000177764	ENST00000382352	.	.	.	5.2	5.2	0.72013	.	0.263997	0.28834	N	0.013991	T	0.51210	0.1661	N	0.08118	0	0.39317	D	0.965172	D	0.76494	0.999	D	0.66716	0.946	T	0.61811	-0.6986	9	0.62326	D	0.03	-34.7009	13.0708	0.59059	1.0:0.0:0.0:0.0	.	308	Q9NUD5	ZCHC3_HUMAN	G	308	.	ENSP00000371789:E308G	E	+	2	0	ZCCHC3	227150	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	5.349000	0.66010	2.186000	0.69663	0.454000	0.30748	GAG		0.632	ZCCHC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077447.1			3	111	0	0	0	1	0	3	111					G	279150	A	G	279150	3	3	91	1	0	0	0	0	1	0	0	0	17586	304	11	4	925	4	ZCCHC3	20	279150	Missense_Mutation	SNP	A	TCGA-EJ-7330-01A-11D-2114-08		279150	62746370	62	4707											
ANGPT4	51378	broad.mit.edu	37	chr20	861826	861826	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cccctaaccttcctgggcttCgttgcattggacacctggat	6	12	9	14	1	0	0	0	0	0	0	2	2	1	2	5	3	2	3	5	3	1	5			TCGA-EJ-7330-01A-11D-2114-08	TCGA-EJ-7330-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	478b235e-7e7f-4dbb-810b-44a50240b359	30f84a45-9998-47d3-87da-030f357d928e	g.chr20:861826C>T	ENST00000381922.3	-	5	1041	c.939G>A	c.(937-939)acG>acA	p.T313T	ANGPT4_ENST00000546022.1_Silent_p.T313T	NM_015985.2	NP_057069.1	Q9Y264	ANGP4_HUMAN	angiopoietin 4	313	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cellular response to hypoxia (GO:0071456)|leukocyte migration (GO:0050900)|negative regulation of angiogenesis (GO:0016525)|negative regulation of apoptotic process (GO:0043066)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	receptor tyrosine kinase binding (GO:0030971)|transmembrane receptor protein tyrosine kinase activator activity (GO:0030297)			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)	27						TCCTGGGCTTCGTTGCATTGG	0.597																																					Pancreas(181;481 2077 3259 31286 49856)	ENST00000381922.3																			0				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)	27						c.(937-939)acG>acA		angiopoietin 4							61	51	54					20																	861826		2203	4300	6503	SO:0001819	synonymous_variant	51378				anti-apoptosis|blood coagulation|cellular response to hypoxia|leukocyte migration|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of peptidyl-tyrosine phosphorylation|signal transduction	extracellular space	receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity	g.chr20:861826C>T	AF074332	CCDS13009.1	20p13	2013-02-06			ENSG00000101280	ENSG00000101280		"Fibrinogen C domain containing"	487	protein-coding gene	gene with protein product		603705				10051567, 10218486	Standard	NM_015985		Approved		uc002wei.3	Q9Y264	OTTHUMG00000031652	ENST00000381922.3:c.939G>A	20.37:g.861826C>T						ANGPT4_ENST00000546022.1_Silent_p.T313T	p.T313T	NM_015985.2	NP_057069.1	Q9Y264	ANGP4_HUMAN			5	1041	-			313			Fibrinogen C-terminal.		B4E3J9|Q5TFF4|Q9H4Z4	Silent	SNP	ENST00000381922.3	37	c.939G>A	CCDS13009.1																																																																																				0.597	ANGPT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077493.1	NM_015985		9	32	0	0	0	1	0	9	32					T	861826	C	T	861826	2	4	91	1	0	0	0	0	0	0	0	1	612	871	31	2		2	ANGPT4	20	861826	Silent	SNP	C	TCGA-EJ-7330-01A-11D-2114-08	582676	861826	62163694	63	4708											
TGM6	343641	broad.mit.edu	37	chr20	2380266	2380266	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggcagggcaagtacggcggCggcaccagcccgctgcactg	7	4	16	14	4	0	0	0	0	0	0	0	0	0	0	2	5	3	6	2	5	2	1	rs200686759	byFrequency	TCGA-EJ-7330-01A-11D-2114-08	TCGA-EJ-7330-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	478b235e-7e7f-4dbb-810b-44a50240b359	30f84a45-9998-47d3-87da-030f357d928e	g.chr20:2380266C>T	ENST00000202625.2	+	6	793	c.732C>T	c.(730-732)ggC>ggT	p.G244G	TGM6_ENST00000477505.1_3'UTR|TGM6_ENST00000381423.1_Silent_p.G244G	NM_198994.2	NP_945345.2	O95932	TGM3L_HUMAN	transglutaminase 6	244					cell death (GO:0008219)|peptide cross-linking (GO:0018149)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)			breast(1)|endometrium(6)|kidney(2)|large_intestine(2)|lung(32)|ovary(4)|prostate(1)|skin(4)	52					L-Glutamine(DB00130)	AGTACGGCGGCGGCACCAGCC	0.647													C|||	2	0.000399361	0	0	5008	,	,		12312	0.001		0.001	False		,,,				2504	0					ENST00000202625.2																			0				breast(1)|endometrium(6)|kidney(2)|large_intestine(2)|lung(32)|ovary(4)|prostate(1)|skin(4)	52						c.(730-732)ggC>ggT		transglutaminase 6	L-Glutamine(DB00130)						69	58	62					20																	2380266		2203	4300	6503	SO:0001819	synonymous_variant	343641				cell death|peptide cross-linking		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity	g.chr20:2380266C>T	AF540970	CCDS13025.1, CCDS58761.1	20p13	2010-12-19	2004-07-05	2004-07-07	ENSG00000166948	ENSG00000166948		"Transglutaminases"	16255	protein-coding gene	gene with protein product	"spinocerebellar ataxia 35"	613900	"transglutaminase 3-like"	TGM3L		11390390, 21106500	Standard	NM_198994		Approved	dJ734P14.3, TGY, SCA35	uc002wfy.1	O95932	OTTHUMG00000031692	ENST00000202625.2:c.732C>T	20.37:g.2380266C>T						TGM6_ENST00000477505.1_3'UTR|TGM6_ENST00000381423.1_Silent_p.G244G	p.G244G	NM_198994.2	NP_945345.2	O95932	TGM3L_HUMAN			6	793	+			244					Q5JXU4|Q5JXU5|Q719M2|Q719M3|Q9Y4U8	Silent	SNP	ENST00000202625.2	37	c.732C>T	CCDS13025.1																																																																																				0.647	TGM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077581.2	NM_198994		6	71	0	0	0	1	0	6	71					T	2380266	C	T	2380266	2	4	91	1	0	0	0	0	0	0	0	1	15831	755	27	1		1	TGM6	20	2380266	Silent	SNP	C	TCGA-EJ-7330-01A-11D-2114-08	1518440	2380266	60645254	64	4709											
BMP7	655	broad.mit.edu	37	chr20	55746142	55746142	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cacagcagggcttgggcaccGtttccgggttgatgaagtgg	7	9	16	9	2	0	2	0	2	0	0	1	2	1	2	2	4	1	5	2	4	1	3			TCGA-EJ-7330-01A-11D-2114-08	TCGA-EJ-7330-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	478b235e-7e7f-4dbb-810b-44a50240b359	30f84a45-9998-47d3-87da-030f357d928e	g.chr20:55746142G>A	ENST00000395863.3	-	7	1674	c.1169C>T	c.(1168-1170)aCg>aTg	p.T390M	BMP7_ENST00000460817.1_5'UTR|BMP7_ENST00000395864.3_Missense_Mutation_p.T324M	NM_001719.2	NP_001710.1	P18075	BMP7_HUMAN	bone morphogenetic protein 7	390					axon guidance (GO:0007411)|BMP signaling pathway (GO:0030509)|branching involved in salivary gland morphogenesis (GO:0060445)|branching morphogenesis of an epithelial tube (GO:0048754)|cartilage development (GO:0051216)|cellular response to hypoxia (GO:0071456)|dendrite development (GO:0016358)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic limb morphogenesis (GO:0030326)|embryonic pattern specification (GO:0009880)|embryonic skeletal joint morphogenesis (GO:0060272)|epithelial cell differentiation (GO:0030855)|epithelial to mesenchymal transition (GO:0001837)|extracellular matrix organization (GO:0030198)|growth (GO:0040007)|mesenchymal cell differentiation (GO:0048762)|mesenchyme development (GO:0060485)|mesoderm formation (GO:0001707)|mesonephros development (GO:0001823)|metanephric mesenchymal cell proliferation involved in metanephros development (GO:0072136)|metanephric mesenchyme morphogenesis (GO:0072133)|metanephros development (GO:0001656)|monocyte aggregation (GO:0070487)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell death (GO:0060548)|negative regulation of glomerular mesangial cell proliferation (GO:0072125)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of mesenchymal cell apoptotic process involved in nephron morphogenesis (GO:0072040)|negative regulation of mitosis (GO:0045839)|negative regulation of neurogenesis (GO:0050768)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of phosphorylation (GO:0042326)|negative regulation of prostatic bud formation (GO:0060686)|negative regulation of striated muscle cell apoptotic process (GO:0010664)|negative regulation of transcription, DNA-templated (GO:0045892)|nephrogenic mesenchyme morphogenesis (GO:0072134)|neuron projection morphogenesis (GO:0048812)|odontogenesis of dentin-containing tooth (GO:0042475)|ossification (GO:0001503)|positive regulation of apoptotic process (GO:0043065)|positive regulation of bone mineralization (GO:0030501)|positive regulation of dendrite development (GO:1900006)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of hyaluranon cable assembly (GO:1900106)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein localization to nucleus (GO:0034504)|regulation of branching involved in prostate gland morphogenesis (GO:0060687)|regulation of pathway-restricted SMAD protein phosphorylation (GO:0060393)|regulation of removal of superoxide radicals (GO:2000121)|response to estradiol (GO:0032355)|response to peptide hormone (GO:0043434)|response to vitamin D (GO:0033280)|skeletal system development (GO:0001501)|SMAD protein signal transduction (GO:0060395)|steroid hormone mediated signaling pathway (GO:0043401)|ureteric bud development (GO:0001657)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane-bounded vesicle (GO:0031988)	heparin binding (GO:0008201)			endometrium(4)|kidney(1)|large_intestine(7)|lung(6)|prostate(1)|skin(1)	20	all_lung(29;0.0133)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(4;2.49e-13)|Epithelial(14;1.74e-08)|all cancers(14;2.05e-07)			CTTGGGCACCGTTTCCGGGTT	0.517																																						ENST00000395863.3																			0				endometrium(4)|kidney(1)|large_intestine(7)|lung(6)|prostate(1)|skin(1)	20						c.(1168-1170)aCg>aTg		bone morphogenetic protein 7							105	86	92					20																	55746142		2203	4300	6503	SO:0001583	missense	655				BMP signaling pathway|cartilage development|cellular response to hypoxia|epithelial to mesenchymal transition|growth|mesonephros development|negative regulation of glomerular mesangial cell proliferation|negative regulation of MAP kinase activity|negative regulation of mitosis|negative regulation of neuron differentiation|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|negative regulation of phosphorylation|negative regulation of striated muscle cell apoptosis|negative regulation of transcription, DNA-dependent|ossification|pathway-restricted SMAD protein phosphorylation|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|protein localization to nucleus|regulation of removal of superoxide radicals|SMAD protein signal transduction|steroid hormone mediated signaling pathway|ureteric bud development	extracellular space	cytokine activity|growth factor activity	g.chr20:55746142G>A		CCDS13455.1	20q13	2014-01-30	2008-05-22		ENSG00000101144	ENSG00000101144		"Bone morphogenetic proteins", "Endogenous ligands"	1074	protein-coding gene	gene with protein product	"osteogenic protein 1"	112267				1427904	Standard	NM_001719		Approved	OP-1	uc010gip.1	P18075	OTTHUMG00000032812	ENST00000395863.3:c.1169C>T	20.37:g.55746142G>A	ENSP00000379204:p.Thr390Met					BMP7_ENST00000460817.1_5'UTR|BMP7_ENST00000395864.3_Missense_Mutation_p.T324M	p.T390M	NM_001719.2	NP_001710.1	P18075	BMP7_HUMAN	BRCA - Breast invasive adenocarcinoma(4;2.49e-13)|Epithelial(14;1.74e-08)|all cancers(14;2.05e-07)		7	1674	-	all_lung(29;0.0133)|Melanoma(10;0.242)		390					Q9H512|Q9NTQ7	Missense_Mutation	SNP	ENST00000395863.3	37	c.1169C>T	CCDS13455.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.230581	0.79688	.	.	ENSG00000101144	ENST00000395863;ENST00000395864	D;D	0.84070	-1.8;-1.8	5.21	5.21	0.72293	Transforming growth factor-beta, C-terminal (3);	0.000000	0.85682	D	0.000000	D	0.86075	0.5846	L	0.43923	1.385	0.80722	D	1	D;D	0.63880	0.993;0.989	P;P	0.56960	0.81;0.743	D	0.85892	0.1429	10	0.44086	T	0.13	.	18.7685	0.91882	0.0:0.0:1.0:0.0	.	324;390	B1AKZ9;P18075	.;BMP7_HUMAN	M	390;324	ENSP00000379204:T390M;ENSP00000379205:T324M	ENSP00000379204:T390M	T	-	2	0	BMP7	55179549	0.999000	0.42202	0.200000	0.23457	0.965000	0.64279	3.270000	0.51600	2.415000	0.81967	0.655000	0.94253	ACG		0.517	BMP7-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000079831.2			4	70	0	0	0	1	0	4	70					A	55746142	G	A	55746142	3	1	91	1	0	0	0	0	1	0	0	0	1465	1145	40	1	130	1	BMP7	20	55746142	Missense_Mutation	SNP	G	TCGA-EJ-7330-01A-11D-2114-08	53365876	55746142	7279378	65	4710											
DFFA	1676	broad.mit.edu	37	chr1	10523170	10523170	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cctgcttctccctcagtgcaGtaaggatgtggctcgccagc	6	10	11	14	1	2	0	1	0	1	0	4	1	2	1	3	2	3	4	3	2	1	2			TCGA-EJ-7331-01A-11D-2114-08	TCGA-EJ-7331-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	532ff1cc-59ff-4078-a917-5e3934db4cc7	ff40c43c-8061-4654-8af7-8200b006260c	g.chr1:10523170G>A	ENST00000377038.3	-	5	795	c.728C>T	c.(727-729)aCt>aTt	p.T243I	DFFA_ENST00000377036.2_Missense_Mutation_p.T243I	NM_004401.2	NP_004392.1	O00273	DFFA_HUMAN	DNA fragmentation factor, 45kDa, alpha polypeptide	243					apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|negative regulation of apoptotic DNA fragmentation (GO:1902511)|negative regulation of execution phase of apoptosis (GO:1900118)|positive regulation of apoptotic process (GO:0043065)|thymocyte apoptotic process (GO:0070242)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				large_intestine(3)|lung(2)	5	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.19e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.25e-07)|COAD - Colon adenocarcinoma(227;7.25e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000296)|Kidney(185;0.00074)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0487)		CCTCAGTGCAGTAAGGATGTG	0.577																																						ENST00000377038.3																			0				large_intestine(3)|lung(2)	5						c.(727-729)aCt>aTt		DNA fragmentation factor, 45kDa, alpha polypeptide							106	83	91					1																	10523170		2203	4300	6503	SO:0001583	missense	1676				DNA fragmentation involved in apoptotic nuclear change|intracellular signal transduction|negative regulation of apoptosis	cytosol|mitochondrion|nucleoplasm|plasma membrane	deoxyribonuclease activity|identical protein binding	g.chr1:10523170G>A	AF087573	CCDS118.1, CCDS119.1	1p36.3-p36.2	2008-07-18	2002-08-29		ENSG00000160049	ENSG00000160049			2772	protein-coding gene	gene with protein product	"DNA fragmentation factor, 45 kD, alpha subunit"	601882	"DNA fragmentation factor, 45 kD, alpha polypeptide"			9605855, 9108473	Standard	NM_004401		Approved	DFF-45, DFF45, ICAD, DFF1	uc001arj.3	O00273	OTTHUMG00000001909	ENST00000377038.3:c.728C>T	1.37:g.10523170G>A	ENSP00000366237:p.Thr243Ile					DFFA_ENST00000377036.2_Missense_Mutation_p.T243I	p.T243I	NM_004401.2	NP_004392.1	O00273	DFFA_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.25e-07)|COAD - Colon adenocarcinoma(227;7.25e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000296)|Kidney(185;0.00074)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0487)	5	795	-	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.19e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)	243					Q5T6G5|Q5T6G6|Q96I97|Q9Y6C6	Missense_Mutation	SNP	ENST00000377038.3	37	c.728C>T	CCDS118.1	.	.	.	.	.	.	.	.	.	.	G	15.10	2.734428	0.48939	.	.	ENSG00000160049	ENST00000377038;ENST00000377036	.	.	.	5.06	0.819	0.18785	DNA fragmentation factor 45kDa, C-terminal (3);	0.658370	0.16804	N	0.198857	T	0.18341	0.0440	N	0.19112	0.55	0.09310	N	1	B;B	0.12630	0.006;0.006	B;B	0.10450	0.004;0.005	T	0.13548	-1.0505	9	0.33940	T	0.23	0.2427	3.3386	0.07110	0.1511:0.1339:0.5766:0.1384	.	243;243	O00273-2;O00273	.;DFFA_HUMAN	I	243	.	ENSP00000366235:T243I	T	-	2	0	DFFA	10445757	0.000000	0.05858	0.000000	0.03702	0.899000	0.52679	0.777000	0.26718	0.140000	0.18849	0.650000	0.86243	ACT		0.577	DFFA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005418.1	NM_004401		4	75	0	0	0	0.001168	0	4	75					A	10523170	G	A	10523170	3	1	92	1	0	0	0	0	1	0	0	0	4452	1029	36	3	299	3	DFFA	1	10523170	Missense_Mutation	SNP	G	TCGA-EJ-7331-01A-11D-2114-08		10523170	238727451	1	4711											
SPEN	23013	broad.mit.edu	37	chr1	16265833	16265834	+	Frame_Shift_Del	DEL	GA	GA	-																															tcccgccctgtgagttctctGagagtcacctgtcccgcctg																										TCGA-EJ-7331-01A-11D-2114-08	TCGA-EJ-7331-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	532ff1cc-59ff-4078-a917-5e3934db4cc7	ff40c43c-8061-4654-8af7-8200b006260c	g.chr1:16265833_16265834delGA	ENST00000375759.3	+	15	11110_11111	c.10906_10907delGA	c.(10906-10908)gagfs	p.E3636fs		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	3636	SPOC. {ECO:0000255|PROSITE- ProRule:PRU00249}.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription, DNA-templated (GO:0045893)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription corepressor activity (GO:0003714)			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		TGAGTTCTCTGAGAGTCACCTG	0.584																																						ENST00000375759.3																			0				NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149						c.(10906-10908)gfs		spen family transcriptional repressor																																				SO:0001589	frameshift_variant	23013				interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding	g.chr1:16265833_16265834delGA		CCDS164.1	1p36	2013-10-17	2013-10-17		ENSG00000065526	ENSG00000065526		"RNA binding motif (RRM) containing"	17575	protein-coding gene	gene with protein product		613484	"SPEN homolog, transcriptional regulator (Drosophila)", "spen homolog, transcriptional regulator (Drosophila)"			10451362, 11331609	Standard	NM_015001		Approved	KIAA0929, MINT, SHARP, RBM15C	uc001axk.1	Q96T58	OTTHUMG00000009376	ENST00000375759.3:c.10906_10907delGA	1.37:g.16265835_16265836delGA	ENSP00000364912:p.Glu3636fs						p.E3636fs	NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)	15	11110_11111	+		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)	3636			SPOC.		Q9H9A8|Q9NWH5|Q9UQ01|Q9Y556	Frame_Shift_Del	DEL	ENST00000375759.3	37	c.10906_10907delGA	CCDS164.1																																																																																				0.584	SPEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025993.1	NM_015001		80	347						80	347	---	---	---	---	-	16265834	GA	-	16265833	7	5	92	1	0	1	0	1	0	0	0	0	15037	1291	45	0	10964	0	SPEN	1	16265833	Frame_Shift_Del	DEL	GA	TCGA-EJ-7331-01A-11D-2114-08	5742663	16265833	232984788	2	4712											
RNF220	55182	broad.mit.edu	37	chr1	44878184	44878184	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	atcagtcagcctttacgccgGccaagcgacttaagaactgc	11	8	9	13	3	2	1	2	0	0	1	2	2	2	1	3	1	5	0	3	1	4	3			TCGA-EJ-7331-01A-11D-2114-08	TCGA-EJ-7331-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	532ff1cc-59ff-4078-a917-5e3934db4cc7	ff40c43c-8061-4654-8af7-8200b006260c	g.chr1:44878184G>A	ENST00000355387.2	+	2	865	c.415G>A	c.(415-417)Gcc>Acc	p.A139T	RNF220_ENST00000372247.2_Missense_Mutation_p.A139T|RNF220_ENST00000361799.2_Missense_Mutation_p.A139T			Q5VTB9	RN220_HUMAN	ring finger protein 220	139					protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(6)|kidney(1)|large_intestine(3)|lung(13)|ovary(2)|skin(2)|urinary_tract(2)	29						CTTTACGCCGGCCAAGCGACT	0.547																																						ENST00000355387.2																			0				endometrium(6)|kidney(1)|large_intestine(3)|lung(13)|ovary(2)|skin(2)|urinary_tract(2)	29						c.(415-417)Gcc>Acc		ring finger protein 220							84	84	84					1																	44878184		2203	4300	6503	SO:0001583	missense	55182				protein autoubiquitination	cytoplasm	ubiquitin-protein ligase activity|zinc ion binding	g.chr1:44878184G>A	AK056424	CCDS510.1	1p34.1	2008-06-13	2008-06-13	2008-06-13	ENSG00000187147	ENSG00000187147		"RING-type (C3HC4) zinc fingers"	25552	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 164"	C1orf164		11042152	Standard	NM_018150		Approved	FLJ10597	uc001clv.1	Q5VTB9	OTTHUMG00000007697	ENST00000355387.2:c.415G>A	1.37:g.44878184G>A	ENSP00000347548:p.Ala139Thr					RNF220_ENST00000372247.2_Missense_Mutation_p.A139T|RNF220_ENST00000361799.2_Missense_Mutation_p.A139T	p.A139T			Q5VTB9	RN220_HUMAN			2	865	+			139					B3KPJ3|B4DLZ9|E9PCS1|Q4KMX2|Q9NVP6	Missense_Mutation	SNP	ENST00000355387.2	37	c.415G>A	CCDS510.1	.	.	.	.	.	.	.	.	.	.	G	25.3	4.627755	0.87560	.	.	ENSG00000187147	ENST00000355387;ENST00000361799;ENST00000453887;ENST00000372247	.	.	.	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	T	0.63651	0.2529	L	0.29908	0.895	0.80722	D	1	D	0.58268	0.982	P	0.56788	0.806	T	0.64537	-0.6384	9	0.54805	T	0.06	.	19.8074	0.96536	0.0:0.0:1.0:0.0	.	139	Q5VTB9	RN220_HUMAN	T	139	.	ENSP00000347548:A139T	A	+	1	0	RNF220	44650771	1.000000	0.71417	0.910000	0.35882	0.957000	0.61999	9.230000	0.95299	2.684000	0.91462	0.655000	0.94253	GCC		0.547	RNF220-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000020683.4	NM_018150		4	118	0	0	0	0.000248	0	4	118					A	44878184	G	A	44878184	3	1	92	1	0	0	0	0	1	0	0	0	13483	1203	42	3	417	3	RNF220	1	44878184	Missense_Mutation	SNP	G	TCGA-EJ-7331-01A-11D-2114-08	28612351	44878184	204372437	3	4713											
KCNK3	3777	broad.mit.edu	37	chr2	26950776	26950776	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agcacgctgtgcatcggcgcCgccgccttctcccactacga	6	7	10	18	6	1	0	0	0	1	0	3	1	1	0	4	1	3	3	4	1	1	2			TCGA-EJ-7331-01A-11D-2114-08	TCGA-EJ-7331-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	532ff1cc-59ff-4078-a917-5e3934db4cc7	ff40c43c-8061-4654-8af7-8200b006260c	g.chr2:26950776C>T	ENST00000302909.3	+	2	650	c.525C>T	c.(523-525)gcC>gcT	p.A175A		NM_002246.2	NP_002237.1	O14649	KCNK3_HUMAN	potassium channel, subfamily K, member 3	175					brain development (GO:0007420)|cellular response to hypoxia (GO:0071456)|cellular response to zinc ion (GO:0071294)|cochlea development (GO:0090102)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|potassium ion transport (GO:0006813)|response to drug (GO:0042493)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ion channel activity (GO:0005216)|open rectifier potassium channel activity (GO:0005252)|potassium channel activity (GO:0005267)|potassium ion leak channel activity (GO:0022841)|S100 protein binding (GO:0044548)			endometrium(3)|large_intestine(4)|lung(5)|ovary(1)|urinary_tract(1)	14	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Doxapram(DB00561)|Halothane(DB01159)	GCATCGGCGCCGCCGCCTTCT	0.637																																					GBM(80;1457 1631 27100 45946)	ENST00000302909.3																			0				endometrium(3)|large_intestine(4)|lung(5)|ovary(1)|urinary_tract(1)	14						c.(523-525)gcC>gcT		potassium channel, subfamily K, member 3							60	54	56					2																	26950776		2203	4300	6503	SO:0001819	synonymous_variant	3777				synaptic transmission	integral to plasma membrane		g.chr2:26950776C>T	AF006823	CCDS1727.1	2p23	2012-03-07			ENSG00000171303	ENSG00000171303		"Potassium channels", "Voltage-gated ion channels / Potassium channels, Two-P"	6278	protein-coding gene	gene with protein product		603220				9312005, 9721223, 16382106	Standard	NM_002246		Approved	K2p3.1, TASK, TASK-1	uc002rhn.2	O14649	OTTHUMG00000125530	ENST00000302909.3:c.525C>T	2.37:g.26950776C>T							p.A175A	NM_002246.2	NP_002237.1	O14649	KCNK3_HUMAN			2	650	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		175					Q53SU2	Silent	SNP	ENST00000302909.3	37	c.525C>T	CCDS1727.1																																																																																				0.637	KCNK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246861.2	NM_002246		7	37	0	0	0	0.00308	0	7	37					T	26950776	C	T	26950776	2	4	92	1	0	0	0	0	0	0	0	1	8067	639	23	2		2	KCNK3	2	26950776	Silent	SNP	C	TCGA-EJ-7331-01A-11D-2114-08		26950776	216248597	4	4714											
SCN9A	6335	broad.mit.edu	37	chr2	167089856	167089856	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagtattttcttaccctcatTccttcaaatctagataaggc	11	16	4	10	0	4	1	2	0	2	1	5	1	5	1	2	1	1	1	2	1	6	9			TCGA-EJ-7331-01A-11D-2114-08	TCGA-EJ-7331-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	532ff1cc-59ff-4078-a917-5e3934db4cc7	ff40c43c-8061-4654-8af7-8200b006260c	g.chr2:167089856T>A	ENST00000409435.1	-	20	3917	c.3918A>T	c.(3916-3918)ggA>ggT	p.G1306G	SCN9A_ENST00000303354.6_Silent_p.G1307G|SCN9A_ENST00000409672.1_Silent_p.G1295G|SCN9A_ENST00000375387.4_Silent_p.G1307G|AC010127.3_ENST00000447809.2_RNA			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	1306					behavioral response to pain (GO:0048266)|inflammatory response (GO:0006954)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|post-embryonic development (GO:0009791)|response to toxic substance (GO:0009636)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	sodium ion binding (GO:0031402)|voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lacosamide(DB06218)|Lidocaine(DB00281)|Ranolazine(DB00243)|Rufinamide(DB06201)|Valproic Acid(DB00313)|Zonisamide(DB00909)	TTACCCTCATTCCTTCAAATC	0.343																																						ENST00000303354.6																			0				NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108						c.(3919-3921)ggA>ggT		sodium channel, voltage-gated, type IX, alpha subunit	Lamotrigine(DB00555)|Lidocaine(DB00281)						37	36	36					2																	167089856		1904	4183	6087	SO:0001819	synonymous_variant	6335					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:167089856T>A	X82835	CCDS46441.1	2q24	2014-09-17	2007-01-23		ENSG00000169432	ENSG00000169432		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10597	protein-coding gene	gene with protein product		603415	"sodium channel, voltage-gated, type IX, alpha polypeptide"			7720699, 10198179, 16382098	Standard	NM_002977		Approved	Nav1.7, PN1, NE-NA, NENA, ETHA	uc010fpl.3	Q15858	OTTHUMG00000154044	ENST00000409435.1:c.3918A>T	2.37:g.167089856T>A						SCN9A_ENST00000409672.1_Silent_p.G1295G|SCN9A_ENST00000409435.1_Silent_p.G1306G|AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000375387.4_Silent_p.G1307G	p.G1307G			Q15858	SCN9A_HUMAN			21	4261	-			1306					A1BUH5|Q6B4R9|Q6B4S0|Q6B4S1|Q70HX1|Q70HX2|Q8WTU1|Q8WWN4	Silent	SNP	ENST00000409435.1	37	c.3921A>T	CCDS46441.1																																																																																				0.343	SCN9A-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333639.1	NM_002977		4	8	0	0	0	0.000248	0	4	8					A	167089856	T	A	167089856	2	1	92	1	0	0	0	0	0	0	0	1	13925	1770	62	5		5	SCN9A	2	167089856	Silent	SNP	T	TCGA-EJ-7331-01A-11D-2114-08	140139080	167089856	76109517	5	4715											
ABCC5	10057	broad.mit.edu	37	chr3	183667559	183667559	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	acctgtgcagaaactcctgcCctttattgtaggcgtggatg	8	12	11	10	1	0	1	0	0	0	1	1	2	1	2	3	2	3	2	3	2	3	4	rs201003374		TCGA-EJ-7331-01A-11D-2114-08	TCGA-EJ-7331-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	532ff1cc-59ff-4078-a917-5e3934db4cc7	ff40c43c-8061-4654-8af7-8200b006260c	g.chr3:183667559C>T	ENST00000334444.6	-	22	3449	c.3209G>A	c.(3208-3210)gGg>gAg	p.G1070E	ABCC5_ENST00000265586.6_Intron	NM_005688.2	NP_005679.2	O15440	MRP5_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 5	1070	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.				carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan biosynthetic process (GO:0030213)|hyaluronan metabolic process (GO:0030212)|organic anion transport (GO:0015711)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)		Adefovir Dipivoxil(DB00718)|Alprostadil(DB00770)|Atorvastatin(DB01076)|Cisplatin(DB00515)|Dinoprostone(DB00917)|Dipyridamole(DB00975)|Fluorouracil(DB00544)|Glutathione(DB00143)|Mercaptopurine(DB01033)|Probenecid(DB01032)|Rifampicin(DB01045)|Sildenafil(DB00203)|Sulfinpyrazone(DB01138)|Zidovudine(DB00495)	AAACTCCTGCCCTTTATTGTA	0.562																																						ENST00000334444.6																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						c.(3208-3210)gGg>gAg		ATP-binding cassette, sub-family C (CFTR/MRP), member 5							90	93	92					3																	183667559		2059	4185	6244	SO:0001583	missense	10057					integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity	g.chr3:183667559C>T	AF104942	CCDS33898.1, CCDS43176.1	3q27	2012-03-14			ENSG00000114770	ENSG00000114770		"ATP binding cassette transporters / subfamily C"	56	protein-coding gene	gene with protein product		605251				8894702, 9827529	Standard	XM_005247058		Approved	MRP5, SMRP, EST277145, MOAT-C	uc003fmg.3	O15440	OTTHUMG00000156871	ENST00000334444.6:c.3209G>A	3.37:g.183667559C>T	ENSP00000333926:p.Gly1070Glu					ABCC5_ENST00000265586.6_Intron	p.G1070E	NM_005688.2	NP_005679.2	O15440	MRP5_HUMAN	Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)		22	3449	-	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		1070			ABC transmembrane type-1 2.		B9EIQ2|O14517|Q29ZA9|Q29ZB1|Q86UX3|Q86W30|Q9UN85|Q9UNP5|Q9UQC3	Missense_Mutation	SNP	ENST00000334444.6	37	c.3209G>A	CCDS43176.1	.	.	.	.	.	.	.	.	.	.	C	5.313	0.243167	0.10077	.	.	ENSG00000114770	ENST00000334444	D	0.84516	-1.86	5.54	5.54	0.83059	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.199311	0.53938	D	0.000047	T	0.65281	0.2676	N	0.01464	-0.85	0.80722	D	1	B	0.06786	0.001	B	0.15052	0.012	T	0.66364	-0.5942	10	0.02654	T	1	-15.2591	19.5024	0.95100	0.0:1.0:0.0:0.0	.	1070	O15440	MRP5_HUMAN	E	1070	ENSP00000333926:G1070E	ENSP00000333926:G1070E	G	-	2	0	ABCC5	185150253	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.965000	0.56788	2.607000	0.88179	0.655000	0.94253	GGG		0.562	ABCC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346350.1	NM_005688		11	35	0	0	0	0.001368	0	11	35					T	183667559	C	T	183667559	3	4	92	1	0	0	0	0	1	0	0	0	56	623	22	3	1140	3	ABCC5	3	183667559	Missense_Mutation	SNP	C	TCGA-EJ-7331-01A-11D-2114-08		183667559	14354871	6	4716											
FLT4	2324	broad.mit.edu	37	chr5	180057599	180057599	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cggccgtggtgccctcgatgCgtgccttgatgtacttgtag	4	12	14	11	4	0	1	0	1	0	0	1	2	0	1	3	2	4	2	3	2	2	4			TCGA-EJ-7331-01A-11D-2114-08	TCGA-EJ-7331-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	532ff1cc-59ff-4078-a917-5e3934db4cc7	ff40c43c-8061-4654-8af7-8200b006260c	g.chr5:180057599C>T	ENST00000261937.6	-	3	434	c.356G>A	c.(355-357)cGc>cAc	p.R119H	FLT4_ENST00000393347.3_Missense_Mutation_p.R119H|FLT4_ENST00000424276.2_5'UTR|FLT4_ENST00000502649.1_Missense_Mutation_p.R119H	NM_182925.4	NP_891555.2	P35916	VGFR3_HUMAN	fms-related tyrosine kinase 4	119	Ig-like C2-type 1.				blood vessel morphogenesis (GO:0048514)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|lymph vessel development (GO:0001945)|lymphangiogenesis (GO:0001946)|negative regulation of apoptotic process (GO:0043066)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of JNK cascade (GO:0046330)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of protein kinase C signaling (GO:0090037)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation vascular endothelial growth factor production (GO:0010575)|protein autophosphorylation (GO:0046777)|regulation of blood vessel remodeling (GO:0060312)|sprouting angiogenesis (GO:0002040)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor signaling pathway (GO:0038084)|vasculature development (GO:0001944)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|protein phosphatase binding (GO:0019903)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Axitinib(DB06626)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	GCCCTCGATGCGTGCCTTGAT	0.637																																					Colon(97;1075 1466 27033 27547 35871)	ENST00000261937.6																			0				NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						c.(355-357)cGc>cAc		fms-related tyrosine kinase 4	Sorafenib(DB00398)|Sunitinib(DB01268)						175	135	148					5																	180057599		2202	4299	6501	SO:0001583	missense	2324				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity	g.chr5:180057599C>T	X68203	CCDS4457.1, CCDS43412.1	5q34-q35	2013-01-29			ENSG00000037280	ENSG00000037280	2.7.10.1	"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	3767	protein-coding gene	gene with protein product		136352				1319394	Standard	NM_002020		Approved	VEGFR3, PCL	uc003mlz.4	P35916	OTTHUMG00000130931	ENST00000261937.6:c.356G>A	5.37:g.180057599C>T	ENSP00000261937:p.Arg119His					FLT4_ENST00000393347.3_Missense_Mutation_p.R119H|FLT4_ENST00000424276.2_5'UTR|FLT4_ENST00000502649.1_Missense_Mutation_p.R119H	p.R119H	NM_182925.4	NP_891555.2	P35916	VGFR3_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	3	434	-	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	119			Ig-like C2-type 1.		A8K6L4|B5A926|Q16067|Q86W07|Q86W08	Missense_Mutation	SNP	ENST00000261937.6	37	c.356G>A	CCDS4457.1	.	.	.	.	.	.	.	.	.	.	C	14.32	2.501412	0.44455	.	.	ENSG00000037280	ENST00000261937;ENST00000393347;ENST00000502649	T;T;T	0.77489	-1.1;-1.1;-1.1	4.9	4.9	0.64082	Immunoglobulin subtype (1);Tyrosine-protein kinase, vascular endothelial growth factor receptor 3 (VEGFR3), N-terminal (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.69611	0.3130	L	0.60455	1.87	0.26761	N	0.969996	P;B;B;B;B	0.41929	0.765;0.103;0.084;0.001;0.008	B;B;B;B;B	0.32677	0.15;0.039;0.01;0.005;0.009	T	0.66803	-0.5831	9	0.46703	T	0.11	.	9.908	0.41388	0.0:0.8718:0.0:0.1282	.	119;119;119;119;119	B5A928;B5A927;P35916-3;E9PD35;P35916	.;.;.;.;VGFR3_HUMAN	H	119	ENSP00000261937:R119H;ENSP00000377016:R119H;ENSP00000426057:R119H	ENSP00000261937:R119H	R	-	2	0	FLT4	179990205	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	2.483000	0.45233	2.465000	0.83290	0.456000	0.33151	CGC		0.637	FLT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253527.4			11	42	0	0	0	0.001855	0	11	42					T	180057599	C	T	180057599	3	4	92	1	0	0	0	0	1	0	0	0	5944	768	27	1	3855	1	FLT4	5	180057599	Missense_Mutation	SNP	C	TCGA-EJ-7331-01A-11D-2114-08		180057599	857661	7	4717											
HDGFL1	154150	broad.mit.edu	37	chr6	22570346	22570347	+	In_Frame_Ins	INS	-	-	GGC																															agggcggcggaagcggagagINSggcggcggcggcggcggcgg																								rs370190435|rs536582109	byFrequency	TCGA-EJ-7331-01A-11D-2114-08	TCGA-EJ-7331-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	532ff1cc-59ff-4078-a917-5e3934db4cc7	3e1ebe7d-89ed-4a54-b352-728fd861dce1	g.chr6:22570346_22570347insGGC	ENST00000230012.3	+	1	669_670	c.542_543insGGC	c.(541-546)agggcg>agGGCggcg	p.188_189insA	HDGFL1_ENST00000510882.2_In_Frame_Ins_p.188_189insA	NM_138574.2	NP_612641.2	Q5TGJ6	HDGL1_HUMAN	hepatoma derived growth factor-like 1	188	Ala-rich.|Glu-rich.									kidney(1)|large_intestine(3)|lung(7)	11	Ovarian(93;0.163)					gaagcggagagggcggcggcgg	0.767														170	0.0339457	0.0182	0.049	5008	,	,		12340	0.0159		0.0547	False		,,,				2504	0.0419					ENST00000510882.2																			0				kidney(1)|large_intestine(3)|lung(7)	11						c.(541-543)agc>aGGCgc		hepatoma derived growth factor-like 1																																				SO:0001652	inframe_insertion	154150							g.chr6:22570346_22570347insGGC	AK056824	CCDS34347.1	6p22.2	2008-02-05	2005-04-07	2005-04-07	ENSG00000112273	ENSG00000112273			21095	protein-coding gene	gene with protein product			"PWWP domain containing 1"	PWWP1			Standard	NM_138574		Approved	dJ309H15.1	uc003nds.3	Q5TGJ6	OTTHUMG00000016206	ENST00000230012.3:c.561_563dupGGC	6.37:g.22570353_22570355dupGGC	ENSP00000230012:p.Ala189_Ala190dup					HDGFL1_ENST00000230012.3_In_Frame_Ins_p.181_181S>RR	p.181_181S>RR			Q5TGJ6	HDGL1_HUMAN			1	552_553	+	Ovarian(93;0.163)		181			Ala-rich.|Glu-rich.		Q96MJ6	In_Frame_Ins	INS	ENST00000230012.3	37	c.542_543insGGC	CCDS34347.1																																																																																				0.767	HDGFL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043500.1	NM_138574		3	6						3	6	---	---	---	---	GGC	22570347	-	GGC	22570346	7	5	92	1	0	1	1	0	0	0	0	0	7019	1000	35	0	544	0	HDGFL1	6	22570346	In_Frame_Ins	INS	-	TCGA-EJ-7331-01A-11D-2114-08		22570346	148544721	8	4718											
TCF21	6943	broad.mit.edu	37	chr6	134212927	134212927	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cgcgagccgcttatgtggaaCcaccgcgtcctgaccttgga	7	8	12	14	5	0	1	0	1	0	0	1	4	1	3	5	2	2	1	5	2	2	2			TCGA-EJ-7331-01A-11D-2114-08	TCGA-EJ-7331-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	532ff1cc-59ff-4078-a917-5e3934db4cc7	ff40c43c-8061-4654-8af7-8200b006260c	g.chr6:134212927C>G	ENST00000367882.4	+	2	787	c.527C>G	c.(526-528)aCc>aGc	p.T176S	TCF21_ENST00000237316.3_Missense_Mutation_p.T176S|RP3-323P13.2_ENST00000606544.1_RNA|RP3-323P13.2_ENST00000607033.1_RNA|RP3-323P13.2_ENST00000607573.1_RNA|RP3-323P13.2_ENST00000607641.1_RNA	NM_003206.3	NP_003197.2	O43680	TCF21_HUMAN	transcription factor 21	176					branching involved in ureteric bud morphogenesis (GO:0001658)|branchiomeric skeletal muscle development (GO:0014707)|bronchiole development (GO:0060435)|diaphragm development (GO:0060539)|embryonic digestive tract morphogenesis (GO:0048557)|epithelial cell differentiation (GO:0030855)|gland development (GO:0048732)|glomerulus development (GO:0032835)|kidney development (GO:0001822)|lung alveolus development (GO:0048286)|lung morphogenesis (GO:0060425)|lung vasculature development (GO:0060426)|metanephric glomerular capillary formation (GO:0072277)|metanephric mesenchymal cell differentiation (GO:0072162)|morphogenesis of a branching structure (GO:0001763)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|palate development (GO:0060021)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|reproductive structure development (GO:0048608)|respiratory system development (GO:0060541)|Sertoli cell differentiation (GO:0060008)|sex determination (GO:0007530)|spleen development (GO:0048536)|ureteric bud development (GO:0001657)|vasculature development (GO:0001944)	nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|bHLH transcription factor binding (GO:0043425)|E-box binding (GO:0070888)|protein dimerization activity (GO:0046983)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	13	Colorectal(23;0.221)|Breast(56;0.247)			GBM - Glioblastoma multiforme(68;0.00518)|OV - Ovarian serous cystadenocarcinoma(155;0.00783)		TTATGTGGAACCACCGCGTCC	0.657																																						ENST00000367882.4																			0				cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	13						c.(526-528)aCc>aGc		transcription factor 21							48	50	49					6																	134212927		2203	4300	6503	SO:0001583	missense	0				branching involved in ureteric bud morphogenesis|mesoderm development|negative regulation of androgen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent	nucleus	androgen receptor binding|E-box binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity	g.chr6:134212927C>G	AF047419	CCDS5167.1	6q23.2	2014-09-17			ENSG00000118526	ENSG00000118526		"Basic helix-loop-helix proteins"	11632	protein-coding gene	gene with protein product		603306				9507058	Standard	NM_198392		Approved	POD1, bHLHa23	uc003qei.4	O43680	OTTHUMG00000015608	ENST00000367882.4:c.527C>G	6.37:g.134212927C>G	ENSP00000356857:p.Thr176Ser					RP3-323P13.2_ENST00000607573.1_RNA|TCF21_ENST00000237316.3_Missense_Mutation_p.T176S	p.T176S	NM_003206.3	NP_003197.2	O43680	TCF21_HUMAN		GBM - Glioblastoma multiforme(68;0.00518)|OV - Ovarian serous cystadenocarcinoma(155;0.00783)	2	787	+	Colorectal(23;0.221)|Breast(56;0.247)		176					E1P581|O43545|Q6ICV0|Q9BZ14	Missense_Mutation	SNP	ENST00000367882.4	37	c.527C>G	CCDS5167.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.148302	0.78001	.	.	ENSG00000118526	ENST00000367882;ENST00000237316	D;D	0.96491	-4.03;-4.03	5.45	5.45	0.79879	.	0.109437	0.64402	D	0.000008	D	0.91395	0.7285	L	0.47716	1.5	0.50313	D	0.999864	B	0.33964	0.434	B	0.26202	0.067	D	0.90575	0.4525	10	0.26408	T	0.33	-22.6944	19.2772	0.94036	0.0:1.0:0.0:0.0	.	176	O43680	TCF21_HUMAN	S	176	ENSP00000356857:T176S;ENSP00000237316:T176S	ENSP00000237316:T176S	T	+	2	0	TCF21	134254620	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	7.630000	0.83225	2.554000	0.86153	0.650000	0.86243	ACC		0.657	TCF21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042292.1	NM_198392		5	41	0	0	0	0.001168	0	5	41					G	134212927	C	G	134212927	3	3	92	1	0	0	0	0	1	0	0	0	15688	507	18	5	533	5	TCF21	6	134212927	Missense_Mutation	SNP	C	TCGA-EJ-7331-01A-11D-2114-08	111642581	134212927	36902140	9	4719											
HDAC9	9734	broad.mit.edu	37	chr7	18687446	18687446	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaaaagcagaagtgtgagacGcagacgcttaggcaaggtgt	14	6	15	6	2	0	3	0	1	0	3	0	5	0	3	0	2	1	4	0	2	5	1			TCGA-EJ-7331-01A-11D-2114-08	TCGA-EJ-7331-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	532ff1cc-59ff-4078-a917-5e3934db4cc7	ff40c43c-8061-4654-8af7-8200b006260c	g.chr7:18687446G>A	ENST00000432645.2	+	9	1065	c.1065G>A	c.(1063-1065)acG>acA	p.T355T	HDAC9_ENST00000428307.2_Silent_p.T311T|HDAC9_ENST00000401921.1_Silent_p.T314T|HDAC9_ENST00000406451.4_Silent_p.T355T|HDAC9_ENST00000524023.1_Silent_p.T278T|HDAC9_ENST00000405010.3_Silent_p.T355T|HDAC9_ENST00000417496.2_Silent_p.T353T|HDAC9_ENST00000406072.1_Silent_p.T342T|HDAC9_ENST00000441542.2_Silent_p.T358T|HDAC9_ENST00000456174.2_Silent_p.T327T	NM_058176.2	NP_478056.1	Q9UKV0	HDAC9_HUMAN	histone deacetylase 9	355					B cell activation (GO:0042113)|B cell differentiation (GO:0030183)|cellular response to insulin stimulus (GO:0032869)|heart development (GO:0007507)|histone deacetylation (GO:0016575)|histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|inflammatory response (GO:0006954)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|peptidyl-lysine deacetylation (GO:0034983)|positive regulation of cell migration involved in sprouting angiogenesis (GO:0090050)|regulation of skeletal muscle fiber development (GO:0048742)|regulation of striated muscle cell differentiation (GO:0051153)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|histone deacetylase complex (GO:0000118)|histone methyltransferase complex (GO:0035097)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|protein deacetylase activity (GO:0033558)|protein kinase C binding (GO:0005080)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82	all_lung(11;0.187)				Valproic Acid(DB00313)	AGTGTGAGACGCAGACGCTTA	0.493																																						ENST00000406451.3																			0				breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82						c.(1063-1065)acG>acA		histone deacetylase 9	Valproic Acid(DB00313)						34	35	34					7																	18687446		2045	4192	6237	SO:0001819	synonymous_variant	9734				B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex	histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity	g.chr7:18687446G>A	AF124924	CCDS47553.1, CCDS47554.1, CCDS47555.1, CCDS47557.1, CCDS56465.1, CCDS56466.1, CCDS56467.1, CCDS56468.1, CCDS75565.1	7p21.1	2008-05-15			ENSG00000048052	ENSG00000048052			14065	protein-coding gene	gene with protein product		606543				10523670, 10487760	Standard	NM_178425		Approved	KIAA0744, HDAC, MITR, HD7, HDAC7B	uc003sui.3	Q9UKV0	OTTHUMG00000152487	ENST00000432645.2:c.1065G>A	7.37:g.18687446G>A						HDAC9_ENST00000417496.2_Silent_p.T353T|HDAC9_ENST00000432645.2_Silent_p.T355T|HDAC9_ENST00000441542.2_Silent_p.T358T|HDAC9_ENST00000406072.1_Silent_p.T342T|HDAC9_ENST00000405010.3_Silent_p.T355T|HDAC9_ENST00000456174.2_Silent_p.T327T|HDAC9_ENST00000401921.1_Silent_p.T314T|HDAC9_ENST00000524023.1_Silent_p.T278T|HDAC9_ENST00000428307.2_Silent_p.T311T	p.T355T	NM_178423.1|NM_178425.2	NP_848510.1|NP_848512.1	Q9UKV0	HDAC9_HUMAN			10	1215	+	all_lung(11;0.187)		355					A7E2F3|B7Z4I4|B7Z917|B7Z928|B7Z940|C9JS87|E7EX34|F8W9E0|O94845|O95028|Q2M2R6|Q86SL1|Q86US3	Silent	SNP	ENST00000432645.2	37	c.1065G>A	CCDS47555.1																																																																																				0.493	HDAC9-023	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000376176.1			5	12	0	0	0	0.001168	0	5	12					A	18687446	G	A	18687446	2	1	92	1	0	0	0	0	0	0	0	1	7014	1074	38	1		1	HDAC9	7	18687446	Silent	SNP	G	TCGA-EJ-7331-01A-11D-2114-08		18687446	140451217	10	4720											
DYNC1I1	1780	broad.mit.edu	37	chr7	95705500	95705500	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacctctggaacctcaacaaTgacaccgaggtgagcggcgg	11	5	13	12	3	2	2	1	2	1	0	2	5	2	3	3	4	3	0	3	4	3	0			TCGA-EJ-7331-01A-11D-2114-08	TCGA-EJ-7331-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	532ff1cc-59ff-4078-a917-5e3934db4cc7	ff40c43c-8061-4654-8af7-8200b006260c	g.chr7:95705500T>C	ENST00000324972.6	+	15	1885	c.1692T>C	c.(1690-1692)aaT>aaC	p.N564N	DYNC1I1_ENST00000437599.1_Silent_p.N544N|DYNC1I1_ENST00000457059.1_Silent_p.N547N|DYNC1I1_ENST00000447467.2_Silent_p.N547N|DYNC1I1_ENST00000359388.4_Silent_p.N527N|DYNC1I1_ENST00000537881.1_Silent_p.N527N	NM_004411.4	NP_004402.1	O14576	DC1I1_HUMAN	dynein, cytoplasmic 1, intermediate chain 1	564					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|metabolic process (GO:0008152)|vesicle transport along microtubule (GO:0047496)	cytoplasmic dynein complex (GO:0005868)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|kinetochore (GO:0000776)|microtubule (GO:0005874)|perinuclear region of cytoplasm (GO:0048471)|spindle pole (GO:0000922)|vesicle (GO:0031982)	microtubule binding (GO:0008017)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)|spectrin binding (GO:0030507)			NS(2)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(27)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	54	all_cancers(62;9.39e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.165)|all_lung(186;0.191)		STAD - Stomach adenocarcinoma(171;0.0957)			ACCTCAACAATGACACCGAGG	0.642											OREG0018174	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000324972.6																			0				NS(2)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(27)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	54						c.(1690-1692)aaT>aaC		dynein, cytoplasmic 1, intermediate chain 1							56	53	54					7																	95705500		2203	4300	6503	SO:0001819	synonymous_variant	1780				vesicle transport along microtubule	condensed chromosome kinetochore|cytoplasmic dynein complex|microtubule|perinuclear region of cytoplasm|spindle pole|vesicle	microtubule binding|microtubule motor activity	g.chr7:95705500T>C	AF063228	CCDS5644.1, CCDS47645.1, CCDS47646.1, CCDS64718.1	7q21.3-q22.1	2013-01-18	2005-11-24	2005-11-24	ENSG00000158560	ENSG00000158560		"Cytoplasmic dyneins", "WD repeat domain containing"	2963	protein-coding gene	gene with protein product		603772	"dynein, cytoplasmic, intermediate polypeptide 1"	DNCI1		10049579, 16260502	Standard	NM_004411		Approved	DNCIC1	uc003uoc.4	O14576	OTTHUMG00000153983	ENST00000324972.6:c.1692T>C	7.37:g.95705500T>C			OREG0018174	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1315	DYNC1I1_ENST00000537881.1_Silent_p.N527N|DYNC1I1_ENST00000457059.1_Silent_p.N547N|DYNC1I1_ENST00000359388.4_Silent_p.N527N|DYNC1I1_ENST00000447467.2_Silent_p.N547N|DYNC1I1_ENST00000437599.1_Silent_p.N544N	p.N564N	NM_004411.4	NP_004402.1	O14576	DC1I1_HUMAN	STAD - Stomach adenocarcinoma(171;0.0957)		15	1885	+	all_cancers(62;9.39e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.165)|all_lung(186;0.191)		564					B4DME3|F5H050|G5E9K1|Q8TBF7|Q9Y2X1	Silent	SNP	ENST00000324972.6	37	c.1692T>C	CCDS5644.1																																																																																				0.642	DYNC1I1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333432.1	NM_004411		10	20	0	0	0	0.000978	0	10	20					C	95705500	T	C	95705500	2	2	92	1	0	0	0	0	0	0	0	1	4842	1461	51	4		4	DYNC1I1	7	95705500	Silent	SNP	T	TCGA-EJ-7331-01A-11D-2114-08	77018054	95705500	63433163	11	4721											
ADAM18	8749	broad.mit.edu	37	chr8	39525629	39525629	+	Missense_Mutation	SNP	G	G	T																															tgacacttatgcattgaatgGccgtttgtgcaagttgggaa																										TCGA-EJ-7331-01A-11D-2114-08	TCGA-EJ-7331-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	532ff1cc-59ff-4078-a917-5e3934db4cc7	ff40c43c-8061-4654-8af7-8200b006260c	g.chr8:39525629G>T	ENST00000265707.5	+	14	1484	c.1439G>T	c.(1438-1440)gGc>gTc	p.G480V	ADAM18_ENST00000541111.1_5'UTR|ADAM18_ENST00000379866.1_Missense_Mutation_p.G456V	NM_014237.2	NP_055052.1	Q9Y3Q7	ADA18_HUMAN	ADAM metallopeptidase domain 18	480	Cys-rich.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(31)|ovary(1)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)	71		all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112)	LUSC - Lung squamous cell carcinoma(45;0.000199)			GCATTGAATGGCCGTTTGTGC	0.408																																						ENST00000265707.5																			0				NS(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(31)|ovary(1)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)	71						c.(1438-1440)gGc>gTc		ADAM metallopeptidase domain 18							235	210	219					8																	39525629		2203	4300	6503	SO:0001583	missense	8749				cell differentiation|multicellular organismal development|proteolysis|spermatogenesis	integral to membrane|membrane fraction	metalloendopeptidase activity|zinc ion binding	g.chr8:39525629G>T	AJ133004	CCDS6113.1, CCDS55225.1	8p11.22	2008-08-07	2005-08-18		ENSG00000168619	ENSG00000168619		"ADAM metallopeptidase domain containing"	196	protein-coding gene	gene with protein product			"a disintegrin and metalloproteinase domain 18"			12200459	Standard	NM_014237		Approved	tMDCIII, ADAM27	uc003xni.3	Q9Y3Q7	OTTHUMG00000164040	ENST00000265707.5:c.1439G>T	8.37:g.39525629G>T	ENSP00000265707:p.Gly480Val					ADAM18_ENST00000379866.1_Missense_Mutation_p.G456V|ADAM18_ENST00000541111.1_5'UTR	p.G480V	NM_014237.2	NP_055052.1	Q9Y3Q7	ADA18_HUMAN	LUSC - Lung squamous cell carcinoma(45;0.000199)		14	1484	+		all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112)	480			Cys-rich.		B2R9Y0|Q0VAI4|Q6IRW9|Q6UXJ9	Missense_Mutation	SNP	ENST00000265707.5	37	c.1439G>T	CCDS6113.1	.	.	.	.	.	.	.	.	.	.	G	18.47	3.630676	0.67015	.	.	ENSG00000168619	ENST00000265707;ENST00000379866;ENST00000522198	T;T	0.39787	1.06;1.06	5.5	5.5	0.81552	ADAM, cysteine-rich (2);	0.000000	0.48767	D	0.000178	T	0.75852	0.3906	H	0.96777	3.88	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.993;0.996	T	0.83267	-0.0045	10	0.87932	D	0	.	14.7732	0.69696	0.0:0.0:1.0:0.0	.	456;480	Q9Y3Q7-2;Q9Y3Q7	.;ADA18_HUMAN	V	480;456;412	ENSP00000265707:G480V;ENSP00000369195:G456V	ENSP00000265707:G480V	G	+	2	0	ADAM18	39644786	1.000000	0.71417	0.936000	0.37596	0.987000	0.75469	5.199000	0.65152	2.868000	0.98415	0.555000	0.69702	GGC		0.408	ADAM18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376916.1	NM_014237		52	203	1	0	2.40265e-35	0.00361	3.67464e-35	52	203					T	39525629	G	T	39525629	3	4	92	1	0	0	0	0	1	0	0	0	239	1203	42	5	1493	5	ADAM18	8	39525629	Missense_Mutation	SNP	G	TCGA-EJ-7331-01A-11D-2114-08		39525629	106838393	12	4722	27	2									
ADAM18	8749	broad.mit.edu	37	chr8	39525630	39525630	+	Silent	SNP	C	C	T																															gacacttatgcattgaatggCcgtttgtgcaagttgggaac																										TCGA-EJ-7331-01A-11D-2114-08	TCGA-EJ-7331-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	532ff1cc-59ff-4078-a917-5e3934db4cc7	ff40c43c-8061-4654-8af7-8200b006260c	g.chr8:39525630C>T	ENST00000265707.5	+	14	1485	c.1440C>T	c.(1438-1440)ggC>ggT	p.G480G	ADAM18_ENST00000541111.1_5'UTR|ADAM18_ENST00000379866.1_Silent_p.G456G	NM_014237.2	NP_055052.1	Q9Y3Q7	ADA18_HUMAN	ADAM metallopeptidase domain 18	480	Cys-rich.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(31)|ovary(1)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)	71		all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112)	LUSC - Lung squamous cell carcinoma(45;0.000199)			CATTGAATGGCCGTTTGTGCA	0.403																																						ENST00000265707.5																			0				NS(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(31)|ovary(1)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)	71						c.(1438-1440)ggC>ggT		ADAM metallopeptidase domain 18							235	210	219					8																	39525630		2203	4300	6503	SO:0001819	synonymous_variant	8749				cell differentiation|multicellular organismal development|proteolysis|spermatogenesis	integral to membrane|membrane fraction	metalloendopeptidase activity|zinc ion binding	g.chr8:39525630C>T	AJ133004	CCDS6113.1, CCDS55225.1	8p11.22	2008-08-07	2005-08-18		ENSG00000168619	ENSG00000168619		"ADAM metallopeptidase domain containing"	196	protein-coding gene	gene with protein product			"a disintegrin and metalloproteinase domain 18"			12200459	Standard	NM_014237		Approved	tMDCIII, ADAM27	uc003xni.3	Q9Y3Q7	OTTHUMG00000164040	ENST00000265707.5:c.1440C>T	8.37:g.39525630C>T						ADAM18_ENST00000379866.1_Silent_p.G456G|ADAM18_ENST00000541111.1_5'UTR	p.G480G	NM_014237.2	NP_055052.1	Q9Y3Q7	ADA18_HUMAN	LUSC - Lung squamous cell carcinoma(45;0.000199)		14	1485	+		all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112)	480			Cys-rich.		B2R9Y0|Q0VAI4|Q6IRW9|Q6UXJ9	Silent	SNP	ENST00000265707.5	37	c.1440C>T	CCDS6113.1																																																																																				0.403	ADAM18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376916.1	NM_014237		55	201	0	0	0	0.00361	0	55	201					T	39525630	C	T	39525630	2	4	92	1	0	0	0	0	0	0	0	1	239	726	26	3		3	ADAM18	8	39525630	Silent	SNP	C	TCGA-EJ-7331-01A-11D-2114-08	1	39525630	106838392	13	4723	27	2									
KCNB2	9312	broad.mit.edu	37	chr8	73849007	73849007	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atgtggctgttgagaaggccGgagagtccgccaacacaaag	12	6	14	9	2	0	2	0	1	0	2	1	4	1	2	3	3	1	2	3	3	3	1			TCGA-EJ-7331-01A-11D-2114-08	TCGA-EJ-7331-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	532ff1cc-59ff-4078-a917-5e3934db4cc7	ff40c43c-8061-4654-8af7-8200b006260c	g.chr8:73849007G>A	ENST00000523207.1	+	3	2005	c.1417G>A	c.(1417-1419)Gga>Aga	p.G473R		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	473					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of smooth muscle contraction (GO:0006940)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)		Dalfampridine(DB06637)	TGAGAAGGCCGGAGAGTCCGC	0.527																																						ENST00000523207.1																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85						c.(1417-1419)Gga>Aga		potassium voltage-gated channel, Shab-related subfamily, member 2							71	78	76					8																	73849007		2203	4300	6503	SO:0001583	missense	9312				regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding	g.chr8:73849007G>A	U69962	CCDS6209.1	8q13.2	2012-07-05			ENSG00000182674	ENSG00000182674		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6232	protein-coding gene	gene with protein product		607738				9612272, 16382104	Standard	NM_004770		Approved	Kv2.2	uc003xzb.3	Q92953	OTTHUMG00000164498	ENST00000523207.1:c.1417G>A	8.37:g.73849007G>A	ENSP00000430846:p.Gly473Arg						p.G473R	NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	Epithelial(68;0.105)		3	2005	+	Breast(64;0.137)		473					Q7Z7D0|Q9BXD3	Missense_Mutation	SNP	ENST00000523207.1	37	c.1417G>A	CCDS6209.1	.	.	.	.	.	.	.	.	.	.	G	8.057	0.767350	0.15983	.	.	ENSG00000182674	ENST00000523207	T	0.25414	1.8	5.74	5.74	0.90152	.	0.524504	0.15755	N	0.246231	T	0.44350	0.1289	L	0.55990	1.75	0.09310	N	0.999994	D	0.63880	0.993	P	0.56700	0.804	T	0.28364	-1.0046	10	0.45353	T	0.12	.	19.91	0.97023	0.0:0.0:1.0:0.0	.	473	Q92953	KCNB2_HUMAN	R	473	ENSP00000430846:G473R	ENSP00000430846:G473R	G	+	1	0	KCNB2	74011561	1.000000	0.71417	0.756000	0.31282	0.160000	0.22226	8.007000	0.88571	2.702000	0.92279	0.655000	0.94253	GGA		0.527	KCNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378998.1	NM_004770		28	102	0	0	0	0.008361	0	28	102					A	73849007	G	A	73849007	3	1	92	1	0	0	0	0	1	0	0	0	8013	1117	39	2	1423	2	KCNB2	8	73849007	Missense_Mutation	SNP	G	TCGA-EJ-7331-01A-11D-2114-08	34323377	73849007	72515015	14	4724											
BICD2	23299	broad.mit.edu	37	chr9	95477650	95477650	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gcgccagcttctgctggatgGccatgcgcagcagcgagttc	6	8	14	13	3	1	0	0	0	1	0	2	2	1	1	2	2	5	5	2	2	0	2			TCGA-EJ-7331-01A-11D-2114-08	TCGA-EJ-7331-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	532ff1cc-59ff-4078-a917-5e3934db4cc7	ff40c43c-8061-4654-8af7-8200b006260c	g.chr9:95477650G>C	ENST00000375512.3	-	7	2421	c.2354C>G	c.(2353-2355)gCc>gGc	p.A785G	BICD2_ENST00000356884.6_Missense_Mutation_p.A785G	NM_015250.3	NP_056065.1	Q8TD16	BICD2_HUMAN	bicaudal D homolog 2 (Drosophila)	785	Interacts with RAB6A. {ECO:0000250}.				cell death (GO:0008219)|microtubule anchoring at microtubule organizing center (GO:0072393)|minus-end-directed organelle transport along microtubule (GO:0072385)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	Rab GTPase binding (GO:0017137)			cervix(3)|endometrium(4)|kidney(1)|large_intestine(6)|lung(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23						CTGCTGGATGGCCATGCGCAG	0.637																																						ENST00000356884.6																			0				cervix(3)|endometrium(4)|kidney(1)|large_intestine(6)|lung(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23						c.(2353-2355)gCc>gGc		bicaudal D homolog 2 (Drosophila)							34	32	33					9																	95477650		2203	4299	6502	SO:0001583	missense	23299				microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule	cytoplasmic vesicle|cytoskeleton|Golgi apparatus|plasma membrane	Rab GTPase binding	g.chr9:95477650G>C	AB014599	CCDS6700.1, CCDS35064.1	9q22.32	2008-02-05			ENSG00000185963	ENSG00000185963			17208	protein-coding gene	gene with protein product		609797				9734811	Standard	NM_001003800		Approved	KIAA0699	uc004asp.1	Q8TD16	OTTHUMG00000021036	ENST00000375512.3:c.2354C>G	9.37:g.95477650G>C	ENSP00000364662:p.Ala785Gly					BICD2_ENST00000375512.3_Missense_Mutation_p.A785G	p.A785G	NM_001003800.1	NP_001003800.1	Q8TD16	BICD2_HUMAN			7	2421	-			785			Interacts with RAB6A (By similarity).		O75181|Q5TBQ2|Q5TBQ3|Q96LH2|Q9BT84|Q9H561	Missense_Mutation	SNP	ENST00000375512.3	37	c.2354C>G	CCDS6700.1	.	.	.	.	.	.	.	.	.	.	G	32	5.152367	0.94645	.	.	ENSG00000185963	ENST00000356884;ENST00000375512	T;T	0.65178	-0.14;-0.14	5.19	5.19	0.71726	.	0.000000	0.85682	D	0.000000	T	0.81437	0.4822	M	0.85630	2.765	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.996;0.998	D	0.84445	0.0585	10	0.87932	D	0	-25.4584	16.588	0.84732	0.0:0.0:1.0:0.0	.	785;785	Q8TD16-2;Q8TD16	.;BICD2_HUMAN	G	785	ENSP00000349351:A785G;ENSP00000364662:A785G	ENSP00000349351:A785G	A	-	2	0	BICD2	94517471	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.734000	0.98822	2.593000	0.87608	0.655000	0.94253	GCC		0.637	BICD2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000055508.1	NM_015250		13	16	0	0	0	0.001368	0	13	16					C	95477650	G	C	95477650	3	2	92	1	0	0	0	0	1	0	0	0	1429	1203	42	5	227	5	BICD2	9	95477650	Missense_Mutation	SNP	G	TCGA-EJ-7331-01A-11D-2114-08		95477650	45735781	15	4725											
SFMBT2	57713	broad.mit.edu	37	chr10	7212995	7212997	+	In_Frame_Del	DEL	CTC	CTC	-																															ttgctctccagaaccagtctCtcctcctcctcctgtttcgt																										TCGA-EJ-7331-01A-11D-2114-08	TCGA-EJ-7331-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	532ff1cc-59ff-4078-a917-5e3934db4cc7	3e1ebe7d-89ed-4a54-b352-728fd861dce1	g.chr10:7212995_7212997delCTC	ENST00000361972.4	-	20	2527_2529	c.2437_2439delGAG	c.(2437-2439)gagdel	p.E813del	SFMBT2_ENST00000397167.1_In_Frame_Del_p.E813del	NM_001018039.1	NP_001018049.1	Q5VUG0	SMBT2_HUMAN	Scm-like with four mbt domains 2	813					negative regulation of gene expression (GO:0010629)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	histone binding (GO:0042393)			NS(2)|breast(3)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(26)|lung(34)|ovary(5)|pancreas(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	99						GAACCAGTCTCTCCTCCTCCTCC	0.596																																						ENST00000361972.4																			0				NS(2)|breast(3)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(26)|lung(34)|ovary(5)|pancreas(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	99						c.(2437-2439)del		Scm-like with four mbt domains 2																																				SO:0001651	inframe_deletion	57713				regulation of transcription, DNA-dependent	nucleus		g.chr10:7212995_7212997delCTC	AB046837	CCDS31138.1	10p15.1	2013-01-10	2003-11-14		ENSG00000198879	ENSG00000198879		"Sterile alpha motif (SAM) domain containing"	20256	protein-coding gene	gene with protein product		615392	"Scm-related gene containing four mbt domains 2"			10997877	Standard	NM_001029880		Approved	KIAA1617	uc009xio.2	Q5VUG0	OTTHUMG00000017630	ENST00000361972.4:c.2437_2439delGAG	10.37:g.7213004_7213006delCTC	ENSP00000355109:p.Glu813del					SFMBT2_ENST00000397167.1_In_Frame_Del_p.E813del	p.E813del	NM_001018039.1	NP_001018049.1	Q5VUG0	SMBT2_HUMAN			20	2527_2529	-			813					A7MD09|Q9HCF5	In_Frame_Del	DEL	ENST00000361972.4	37	c.2437_2439delGAG	CCDS31138.1																																																																																				0.596	SFMBT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046673.1	NM_001029880		7	273						7	273	---	---	---	---	-	7212997	CTC	-	7212995	7	5	92	1	0	1	0	1	0	0	0	0	14158	912	32	0	253	0	SFMBT2	10	7212995	In_Frame_Del	DEL	CTC	TCGA-EJ-7331-01A-11D-2114-08		7212995	128321752	16	4726											
TACC2	10579	broad.mit.edu	37	chr10	123843719	123843719	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagccgtggctaaagaaggAagcagatcacctggtgacag	13	5	13	10	1	1	3	1	1	0	2	1	4	1	4	3	3	2	2	3	3	4	1			TCGA-EJ-7331-01A-11D-2114-08	TCGA-EJ-7331-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	532ff1cc-59ff-4078-a917-5e3934db4cc7	ff40c43c-8061-4654-8af7-8200b006260c	g.chr10:123843719A>T	ENST00000369005.1	+	4	2044	c.1704A>T	c.(1702-1704)ggA>ggT	p.G568G	TACC2_ENST00000358010.1_Intron|TACC2_ENST00000515603.1_Silent_p.G568G|TACC2_ENST00000513429.1_Intron|TACC2_ENST00000515273.1_Silent_p.G568G|TACC2_ENST00000334433.3_Silent_p.G568G|TACC2_ENST00000453444.2_Silent_p.G568G	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	568					astral microtubule organization (GO:0030953)|cerebral cortex development (GO:0021987)|interkinetic nuclear migration (GO:0022027)|neurogenesis (GO:0022008)|regulation of microtubule-based process (GO:0032886)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleus (GO:0005634)	nuclear hormone receptor binding (GO:0035257)			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				CTAAAGAAGGAAGCAGATCAC	0.592																																						ENST00000369005.1																			0				NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83						c.(1702-1704)ggA>ggT		transforming, acidic coiled-coil containing protein 2							63	70	68					10																	123843719		2203	4300	6503	SO:0001819	synonymous_variant	10579					microtubule organizing center|nucleus	nuclear hormone receptor binding	g.chr10:123843719A>T	AF095791	CCDS7625.1, CCDS7626.1, CCDS7627.1, CCDS7628.1	10q26	2008-07-29			ENSG00000138162	ENSG00000138162			11523	protein-coding gene	gene with protein product		605302				14767476	Standard	XM_005269388		Approved	AZU-1	uc001lfv.3	O95359	OTTHUMG00000019181	ENST00000369005.1:c.1704A>T	10.37:g.123843719A>T						TACC2_ENST00000513429.1_Intron|TACC2_ENST00000453444.2_Silent_p.G568G|TACC2_ENST00000515273.1_Silent_p.G568G|TACC2_ENST00000358010.1_Intron|TACC2_ENST00000515603.1_Silent_p.G568G|TACC2_ENST00000334433.3_Silent_p.G568G	p.G568G	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN			4	2044	+		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)	568					Q4VXL0|Q4VXL3|Q4VXL6|Q4VXL7|Q5U5T7|Q86WG6|Q86WG7|Q8TCK9|Q9BVQ1|Q9NZ41|Q9NZR5	Silent	SNP	ENST00000369005.1	37	c.1704A>T	CCDS7626.1																																																																																				0.592	TACC2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090004.1			13	27	0	0	0	0.004007	0	13	27					T	123843719	A	T	123843719	2	4	92	1	0	0	0	0	0	0	0	1	15499	233	9	5		5	TACC2	10	123843719	Silent	SNP	A	TCGA-EJ-7331-01A-11D-2114-08	116630724	123843719	11691028	17	4727											
OR2AG2	338755	broad.mit.edu	37	chr11	6789258	6789258	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctagagcgtggaatgtgccaGcagtatgtattttcccagga	10	11	12	8	1	0	1	0	0	0	1	1	3	1	3	2	2	3	3	2	2	4	5			TCGA-EJ-7331-01A-11D-2114-08	TCGA-EJ-7331-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	532ff1cc-59ff-4078-a917-5e3934db4cc7	ff40c43c-8061-4654-8af7-8200b006260c	g.chr11:6789258G>A	ENST00000338569.2	-	1	1028	c.931C>T	c.(931-933)Ctg>Ttg	p.L311L		NM_001004490.1	NP_001004490.1	A6NM03	O2AG2_HUMAN	olfactory receptor, family 2, subfamily AG, member 2	311						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(13)|ovary(1)|skin(5)|stomach(1)|urinary_tract(1)	28		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)		Epithelial(150;2.15e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		GAATGTGCCAGCAGTATGTAT	0.483																																						ENST00000338569.2																			0				breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(13)|ovary(1)|skin(5)|stomach(1)|urinary_tract(1)	28						c.(931-933)Ctg>Ttg		olfactory receptor, family 2, subfamily AG, member 2							82	75	78					11																	6789258		2201	4296	6497	SO:0001819	synonymous_variant	338755				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:6789258G>A	AB065539	CCDS31413.1	11p15.4	2012-08-09		2004-03-10	ENSG00000188124	ENSG00000188124		"GPCR / Class A : Olfactory receptors"	15143	protein-coding gene	gene with protein product				OR2AG2P			Standard	NM_001004490		Approved		uc001meq.1	A6NM03	OTTHUMG00000165868	ENST00000338569.2:c.931C>T	11.37:g.6789258G>A							p.L311L	NM_001004490.1	NP_001004490.1	A6NM03	O2AG2_HUMAN		Epithelial(150;2.15e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)	1	1028	-		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)	311						Silent	SNP	ENST00000338569.2	37	c.931C>T	CCDS31413.1																																																																																				0.483	OR2AG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386775.1	NM_001004490		3	79	0	0	0	0.004672	0	3	79					A	6789258	G	A	6789258	2	1	92	1	0	0	0	0	0	0	0	1	10985	962	34	3		3	OR2AG2	11	6789258	Silent	SNP	G	TCGA-EJ-7331-01A-11D-2114-08		6789258	128217258	18	4728											
PCF11	51585	broad.mit.edu	37	chr11	82877716	82877716	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaactggcaaagttccaagTctgccaaaagatggaaatct	17	8	8	8	0	2	1	0	0	2	1	3	2	3	2	2	2	2	2	2	2	7	1			TCGA-EJ-7331-01A-11D-2114-08	TCGA-EJ-7331-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	532ff1cc-59ff-4078-a917-5e3934db4cc7	ff40c43c-8061-4654-8af7-8200b006260c	g.chr11:82877716T>A	ENST00000298281.4	+	5	2229	c.1777T>A	c.(1777-1779)Tct>Act	p.S593T		NM_015885.3	NP_056969.2	O94913	PCF11_HUMAN	PCF11 cleavage and polyadenylation factor subunit	593					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA cleavage (GO:0006379)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	mRNA cleavage factor complex (GO:0005849)|nucleoplasm (GO:0005654)				cervix(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(22)|ovary(1)|urinary_tract(1)	33						AAGTTCCAAGTCTGCCAAAAG	0.363																																						ENST00000298281.4																			0				cervix(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(22)|ovary(1)|urinary_tract(1)	33						c.(1777-1779)Tct>Act		PCF11 cleavage and polyadenylation factor subunit							71	72	71					11																	82877716		1780	3938	5718	SO:0001583	missense	51585				mRNA 3'-end processing|mRNA cleavage|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage factor complex		g.chr11:82877716T>A	AB020631	CCDS44689.1	11q13	2013-07-02	2013-07-02		ENSG00000165494	ENSG00000165494			30097	protein-coding gene	gene with protein product		608876	"PCF11, cleavage and polyadenylation factor II subunit, homolog (S. cerevisiae)", "PCF11, cleavage and polyadenylation factor subunit, homolog (S. cerevisiae)"			11060040	Standard	NM_015885		Approved	KIAA0824	uc001ozx.4	O94913	OTTHUMG00000167031	ENST00000298281.4:c.1777T>A	11.37:g.82877716T>A	ENSP00000298281:p.Ser593Thr						p.S593T	NM_015885.3	NP_056969.2	O94913	PCF11_HUMAN			5	2229	+			593					A6H8W7|O43671|Q6P0X8	Missense_Mutation	SNP	ENST00000298281.4	37	c.1777T>A	CCDS44689.1	.	.	.	.	.	.	.	.	.	.	T	12.53	1.966995	0.34754	.	.	ENSG00000165494	ENST00000298281;ENST00000530660;ENST00000530304	T;T;T	0.46819	1.87;0.88;0.86	6.07	6.07	0.98685	.	0.000000	0.64402	D	0.000015	T	0.31167	0.0788	N	0.24115	0.695	0.28001	N	0.935292	P;B	0.39782	0.688;0.231	B;B	0.33750	0.169;0.081	T	0.26155	-1.0111	9	.	.	.	.	12.4108	0.55466	0.0:0.0:0.2563:0.7436	.	593;593	E9PQ01;O94913	.;PCF11_HUMAN	T	593	ENSP00000298281:S593T;ENSP00000434540:S593T;ENSP00000431567:S593T	.	S	+	1	0	PCF11	82555364	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	2.160000	0.42348	2.326000	0.78906	0.533000	0.62120	TCT		0.363	PCF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392548.2	NM_015885		24	72	0	0	0	0.008361	0	24	72					A	82877716	T	A	82877716	3	1	92	1	0	0	0	0	1	0	0	0	11573	1667	58	5	1795	5	PCF11	11	82877716	Missense_Mutation	SNP	T	TCGA-EJ-7331-01A-11D-2114-08	76088458	82877716	52128800	19	4729											
LRP6	4040	broad.mit.edu	37	chr12	12397551	12397551	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atttgtagcatcaaccaatcGcaagtcccgtctgtttgcat	10	13	7	11	2	2	0	1	0	1	0	4	0	3	0	2	0	3	5	2	0	4	3			TCGA-EJ-7331-01A-11D-2114-08	TCGA-EJ-7331-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	532ff1cc-59ff-4078-a917-5e3934db4cc7	ff40c43c-8061-4654-8af7-8200b006260c	g.chr12:12397551G>T	ENST00000261349.4	-	2	170	c.94C>A	c.(94-96)Cga>Aga	p.R32R	LRP6_ENST00000543091.1_Silent_p.R32R	NM_002336.2	NP_002327.2	O75581	LRP6_HUMAN	low density lipoprotein receptor-related protein 6	32	Beta-propeller 1.				anterior/posterior pattern specification (GO:0009952)|axis elongation involved in somitogenesis (GO:0090245)|bone morphogenesis (GO:0060349)|bone remodeling (GO:0046849)|branching involved in mammary gland duct morphogenesis (GO:0060444)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in cardiac neural crest cell differentiation involved in heart development (GO:0061310)|canonical Wnt signaling pathway involved in neural crest cell differentiation (GO:0044335)|canonical Wnt signaling pathway involved in positive regulation of cardiac outflow tract cell proliferation (GO:0061324)|canonical Wnt signaling pathway involved in regulation of cell proliferation (GO:0044340)|cell migration involved in gastrulation (GO:0042074)|cellular response to cholesterol (GO:0071397)|cerebellum morphogenesis (GO:0021587)|cerebral cortex cell migration (GO:0021795)|cerebral cortex development (GO:0021987)|convergent extension (GO:0060026)|dopaminergic neuron differentiation (GO:0071542)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic limb morphogenesis (GO:0030326)|embryonic pattern specification (GO:0009880)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|external genitalia morphogenesis (GO:0035261)|face morphogenesis (GO:0060325)|forebrain radial glial cell differentiation (GO:0021861)|formation of radial glial scaffolds (GO:0021943)|gastrulation with mouth forming second (GO:0001702)|heart looping (GO:0001947)|mammary placode formation (GO:0060596)|midbrain development (GO:0030901)|midbrain-hindbrain boundary development (GO:0030917)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of planar cell polarity pathway involved in cardiac muscle tissue morphogenesis (GO:2000151)|negative regulation of planar cell polarity pathway involved in cardiac right atrium morphogenesis (GO:2000162)|negative regulation of planar cell polarity pathway involved in neural tube closure (GO:2000168)|negative regulation of planar cell polarity pathway involved in outflow tract morphogenesis (GO:2000164)|negative regulation of planar cell polarity pathway involved in pericardium morphogenesis (GO:2000166)|negative regulation of planar cell polarity pathway involved in ventricular septum morphogenesis (GO:2000149)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|negative regulation of smooth muscle cell apoptotic process (GO:0034392)|neural crest cell differentiation (GO:0014033)|neural crest formation (GO:0014029)|neural tube closure (GO:0001843)|odontogenesis of dentin-containing tooth (GO:0042475)|palate development (GO:0060021)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of bone resorption (GO:0045780)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell cycle (GO:0045787)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of ossification (GO:0045778)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway involved in dorsal/ventral axis specification (GO:2000055)|post-anal tail morphogenesis (GO:0036342)|primitive streak formation (GO:0090009)|receptor-mediated endocytosis of low-density lipoprotein particle involved in cholesterol transport (GO:0090118)|regulation of cell development (GO:0060284)|regulation of fat cell differentiation (GO:0045598)|regulation of ossification (GO:0030278)|response to folic acid (GO:0051593)|response to peptide hormone (GO:0043434)|single organismal cell-cell adhesion (GO:0016337)|synaptic transmission (GO:0007268)|thalamus development (GO:0021794)|toxin transport (GO:1901998)|trachea cartilage morphogenesis (GO:0060535)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway involved in dorsal/ventral axis specification (GO:0044332)|Wnt signaling pathway involved in forebrain neuroblast division (GO:0021874)|Wnt signaling pathway involved in somitogenesis (GO:0090244)	cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|synapse (GO:0045202)	apolipoprotein binding (GO:0034185)|coreceptor activity involved in Wnt signaling pathway (GO:0071936)|frizzled binding (GO:0005109)|identical protein binding (GO:0042802)|kinase inhibitor activity (GO:0019210)|low-density lipoprotein receptor activity (GO:0005041)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|toxin transporter activity (GO:0019534)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)	p.R32*(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	85		Prostate(47;0.0865)				TCAACCAATCGCAAGTCCCGT	0.413																																						ENST00000261349.4																			1	Substitution - Nonsense(1)	p.R32*(1)	lung(1)	breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	85						c.(94-96)Cga>Aga		low density lipoprotein receptor-related protein 6							95	85	88					12																	12397551		2203	4300	6503	SO:0001819	synonymous_variant	4040				cellular response to cholesterol|negative regulation of protein phosphorylation|negative regulation of protein serine/threonine kinase activity|negative regulation of smooth muscle cell apoptosis|neural crest formation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell cycle|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	cell surface|cytoplasmic vesicle|endoplasmic reticulum|integral to membrane|plasma membrane	coreceptor activity|frizzled binding|kinase inhibitor activity|low-density lipoprotein receptor activity|protein homodimerization activity|toxin transporter activity|Wnt-protein binding	g.chr12:12397551G>T	AF074264	CCDS8647.1	12p13.2	2013-05-29			ENSG00000070018	ENSG00000070018		"Low density lipoprotein receptors"	6698	protein-coding gene	gene with protein product		603507				9704021	Standard	NM_002336		Approved	ADCAD2	uc001rah.4	O75581	OTTHUMG00000168540	ENST00000261349.4:c.94C>A	12.37:g.12397551G>T						LRP6_ENST00000543091.1_Silent_p.R32R	p.R32R	NM_002336.2	NP_002327.2	O75581	LRP6_HUMAN			2	170	-		Prostate(47;0.0865)	32			Beta-propeller 1.		Q17RZ2	Silent	SNP	ENST00000261349.4	37	c.94C>A	CCDS8647.1																																																																																				0.413	LRP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400137.1			11	44	1	0	0.00244969	0.00245	0.00353845	11	44					T	12397551	G	T	12397551	2	4	92	1	0	0	0	0	0	0	0	1	8962	1095	38	5		5	LRP6	12	12397551	Silent	SNP	G	TCGA-EJ-7331-01A-11D-2114-08		12397551	121454344	20	4730											
MLEC	9761	broad.mit.edu	37	chr12	121125148	121125150	+	In_Frame_Del	DEL	CTG	CTG	-																															ccgctgtggcgctcctgcgaCtgctgctgctgctgctgccg																										TCGA-EJ-7331-01A-11D-2114-08	TCGA-EJ-7331-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	532ff1cc-59ff-4078-a917-5e3934db4cc7	3e1ebe7d-89ed-4a54-b352-728fd861dce1	g.chr12:121125148_121125150delCTG	ENST00000228506.3	+	1	477_479	c.49_51delCTG	c.(49-51)ctgdel	p.L22del	MLEC_ENST00000412616.2_In_Frame_Del_p.L22del	NM_014730.2	NP_055545.1	Q14165	MLEC_HUMAN	malectin	22					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)|enzyme binding (GO:0019899)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)	16						gctcctgcgactgctgctgctgc	0.783																																						ENST00000228506.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)	16						c.(49-51)del		malectin				47,1473		16,15,729						-1.8	1			2	80,3128		23,34,1547	no	coding	MLEC	NM_014730.2		39,49,2276	A1A1,A1R,RR		2.4938,3.0921,2.6861				127,4601				SO:0001651	inframe_deletion	9761				post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	carbohydrate binding	g.chr12:121125148_121125150delCTG	BC000371	CCDS9206.1	12q24.31	2013-03-06	2008-11-05	2008-11-05	ENSG00000110917	ENSG00000110917			28973	protein-coding gene	gene with protein product	"oligosaccharyltransferase complex subunit (non-catalytic)"	613802	"KIAA0152"	KIAA0152		18524852	Standard	NM_014730		Approved		uc001tyy.1	Q14165	OTTHUMG00000169187	ENST00000228506.3:c.49_51delCTG	12.37:g.121125157_121125159delCTG	ENSP00000228506:p.Leu22del					MLEC_ENST00000412616.2_In_Frame_Del_p.L22del	p.L22del	NM_014730.2	NP_055545.1	Q14165	MLEC_HUMAN			1	477_479	+			22						In_Frame_Del	DEL	ENST00000228506.3	37	c.49_51delCTG	CCDS9206.1																																																																																				0.783	MLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402781.2	NM_014730		2	4						2	4	---	---	---	---	-	121125150	CTG	-	121125148	7	5	92	1	0	1	0	1	0	0	0	0	9613	564	20	0	51	0	MLEC	12	121125148	In_Frame_Del	DEL	CTG	TCGA-EJ-7331-01A-11D-2114-08	108727597	121125148	12726747	21	4731											
CCDC88C	440193	broad.mit.edu	37	chr14	91739301	91739303	+	In_Frame_Del	DEL	CAG	CAG	-																															ctgggagttgctgccactgcCagcagcagcagcaccagcac																										TCGA-EJ-7331-01A-11D-2114-08	TCGA-EJ-7331-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	532ff1cc-59ff-4078-a917-5e3934db4cc7	ff40c43c-8061-4654-8af7-8200b006260c	g.chr14:91739301_91739303delCAG	ENST00000389857.6	-	30	5839_5841	c.5753_5755delCTG	c.(5752-5757)gctggc>ggc	p.A1918del	CCDC88C_ENST00000331194.7_In_Frame_Del_p.A442del	NM_001080414.3	NP_001073883.2	Q9P219	DAPLE_HUMAN	coiled-coil domain containing 88C	1918					protein destabilization (GO:0031648)|protein homooligomerization (GO:0051260)|regulation of protein phosphorylation (GO:0001932)|Wnt signaling pathway (GO:0016055)		PDZ domain binding (GO:0030165)|protein self-association (GO:0043621)			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1)	24		all_cancers(154;0.0468)				CTGCCACTGCCAGCAGCAGCAGC	0.69																																						ENST00000389857.6																			0				central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1)	24						c.(5752-5757)ggc>g		coiled-coil domain containing 88C				15,2677		4,7,1335						1.9	0			4	64,6090		9,46,3022	no	coding	CCDC88C	NM_001080414.3		13,53,4357	A1A1,A1R,RR		1.04,0.5572,0.8931				79,8767				SO:0001651	inframe_deletion	440193				microtubule cytoskeleton organization|protein destabilization|protein homooligomerization|regulation of protein phosphorylation|Wnt receptor signaling pathway	cytoplasm|insoluble fraction	microtubule binding|PDZ domain binding|protein self-association	g.chr14:91739301_91739303delCAG		CCDS45151.1	14q32.12	2014-07-30	2007-05-31	2007-05-31		ENSG00000015133			19967	protein-coding gene	gene with protein product	"Dvl-associating protein with a high frequency of leucine residues", "spinocerebellar ataxia 40"	611204	"KIAA1509"	KIAA1509		17185515, 25062847	Standard	NM_001080414		Approved	DAPLE, HkRP2, SCA40	uc010aty.3	Q9P219		ENST00000389857.6:c.5753_5755delCTG	14.37:g.91739310_91739312delCAG	ENSP00000374507:p.Ala1918del					CCDC88C_ENST00000331194.7_In_Frame_Del_p.AG442del	p.AG1918del	NM_001080414.3	NP_001073883.2	Q9P219	DAPLE_HUMAN			30	5839_5841	-		all_cancers(154;0.0468)	1918					Q69YK1|Q7L1M2|Q86SX7|Q8IYG8	In_Frame_Del	DEL	ENST00000389857.6	37	c.5753_5755delCTG	CCDS45151.1																																																																																				0.69	CCDC88C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411650.1	XM_029353		2	4						2	4	---	---	---	---	-	91739303	CAG	-	91739301	7	5	92	1	0	1	0	1	0	0	0	0	2865	594	21	0	335	0	CCDC88C	14	91739301	In_Frame_Del	DEL	CAG	TCGA-EJ-7331-01A-11D-2114-08		91739301	15610239	22	4732											
KRTAP9-9	81870	broad.mit.edu	37	chr17	39412068	39412068	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gccctgctgccgccccgcctGctgtgagaccacctgctgca	4	7	11	19	2	0	1	0	1	0	1	0	2	0	1	7	0	5	4	7	0	0	0			TCGA-EJ-7331-01A-11D-2114-08	TCGA-EJ-7331-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	532ff1cc-59ff-4078-a917-5e3934db4cc7	ff40c43c-8061-4654-8af7-8200b006260c	g.chr17:39412068G>A	ENST00000394008.1	+	1	433	c.431G>A	c.(430-432)tGc>tAc	p.C144Y		NM_030975.2	NP_112237.2	Q9BYP9	KRA99_HUMAN	keratin associated protein 9-9	129	14 X 5 AA repeats of C-C-[RQVGE]- [SPSTNQ]-[TASL].					keratin filament (GO:0045095)				endometrium(3)|skin(2)|upper_aerodigestive_tract(1)	6		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000397)			CGCCCCGCCTGCTGTGAGACC	0.612																																						ENST00000394008.1																			0				endometrium(3)|skin(2)|upper_aerodigestive_tract(1)	6						c.(430-432)tGc>tAc		keratin associated protein 9-9							155	163	160					17																	39412068		2203	4300	6503	SO:0001583	missense	81870					keratin filament		g.chr17:39412068G>A	AJ406951	CCDS54127.1	17q21.2	2010-06-03			ENSG00000198083	ENSG00000198083		"Keratin associated proteins"	16773	protein-coding gene	gene with protein product			"keratin associated protein 9-5"	KRTAP9-5		11279113	Standard	NM_030975		Approved	KAP9.9, KAP9.5	uc021txh.1	Q9BYP9	OTTHUMG00000133602	ENST00000394008.1:c.431G>A	17.37:g.39412068G>A	ENSP00000377576:p.Cys144Tyr						p.C144Y	NM_030975.2	NP_112237.2	B5MDD6	B5MDD6_HUMAN	STAD - Stomach adenocarcinoma(17;0.000397)		1	433	+		Breast(137;0.000496)	144					B5MDD6|Q9BYQ1	Missense_Mutation	SNP	ENST00000394008.1	37	c.431G>A	CCDS54127.1	.	.	.	.	.	.	.	.	.	.	.	18.95	3.731834	0.69189	.	.	ENSG00000198083	ENST00000431129;ENST00000394008	T	0.05139	3.49	2.97	1.93	0.25924	.	.	.	.	.	T	0.28200	0.0696	M	0.92970	3.365	0.28324	N	0.922107	D	0.69078	0.997	D	0.67900	0.954	T	0.08106	-1.0738	9	0.46703	T	0.11	.	9.9663	0.41727	0.0:0.211:0.789:0.0	.	129	Q9BYP9	KRA99_HUMAN	Y	150;144	ENSP00000377576:C144Y	ENSP00000377576:C144Y	C	+	2	0	KRTAP9-9	36665594	0.991000	0.36638	0.341000	0.25589	0.703000	0.40648	1.764000	0.38471	0.491000	0.27793	0.205000	0.17691	TGC		0.612	KRTAP9-9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257710.1	NM_030975		7	251	0	0	0	0.001984	0	7	251					A	39412068	G	A	39412068	3	1	92	1	0	0	0	0	1	0	0	0	8577	1319	46	3	433	3	KRTAP9-9	17	39412068	Missense_Mutation	SNP	G	TCGA-EJ-7331-01A-11D-2114-08		39412068	41783142	23	4733											
NKIRAS2	28511	broad.mit.edu	37	chr17	40175835	40175835	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctttgtctacttggccagcaAgatgacgcaaccccagagca	11	8	9	13	1	1	3	0	1	1	2	1	3	1	3	3	1	4	3	3	1	3	3			TCGA-EJ-7331-01A-11D-2114-08	TCGA-EJ-7331-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	532ff1cc-59ff-4078-a917-5e3934db4cc7	ff40c43c-8061-4654-8af7-8200b006260c	g.chr17:40175835A>G	ENST00000307641.5	+	4	1121	c.500A>G	c.(499-501)aAg>aGg	p.K167R	NKIRAS2_ENST00000393880.1_Missense_Mutation_p.K167R|NKIRAS2_ENST00000393881.3_Missense_Mutation_p.K167R|NKIRAS2_ENST00000462043.2_3'UTR|NKIRAS2_ENST00000393884.2_Missense_Mutation_p.K165R|NKIRAS2_ENST00000479407.1_3'UTR|NKIRAS2_ENST00000316082.4_Missense_Mutation_p.K205R|NKIRAS2_ENST00000449471.4_Missense_Mutation_p.K111R|ZNF385C_ENST00000461831.1_5'Flank|NKIRAS2_ENST00000393885.4_Missense_Mutation_p.K167R	NM_001001349.2	NP_001001349.1	Q9NYR9	KBRS2_HUMAN	NFKB inhibitor interacting Ras-like 2	167	Small GTPase-like.				I-kappaB kinase/NF-kappaB signaling (GO:0007249)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	9		all_cancers(22;1.1e-05)|Breast(137;0.000143)|all_epithelial(22;0.000319)				TTGGCCAGCAAGATGACGCAA	0.612																																						ENST00000307641.5																			0				large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	9						c.(499-501)aAg>aGg		NFKB inhibitor interacting Ras-like 2							93	89	90					17																	40175835		2203	4300	6503	SO:0001583	missense	28511				I-kappaB kinase/NF-kappaB cascade|small GTPase mediated signal transduction	cytoplasm	GTP binding|GTPase activity	g.chr17:40175835A>G	AF229840	CCDS11415.1, CCDS45679.1, CCDS45680.1	17q21.31	2014-05-09	2004-05-20		ENSG00000168256	ENSG00000168256			17898	protein-coding gene	gene with protein product		604497	"NFKB inhibitor interacting Ras-like protein 2"			10657303	Standard	NM_001001349		Approved	KBRAS2, DKFZP434N1526, kappaB-Ras2	uc002hys.3	Q9NYR9	OTTHUMG00000133503	ENST00000307641.5:c.500A>G	17.37:g.40175835A>G	ENSP00000303580:p.Lys167Arg					NKIRAS2_ENST00000393884.2_Missense_Mutation_p.K165R|NKIRAS2_ENST00000393881.3_Missense_Mutation_p.K167R|NKIRAS2_ENST00000462043.2_3'UTR|NKIRAS2_ENST00000316082.4_Missense_Mutation_p.K205R|NKIRAS2_ENST00000393880.1_Missense_Mutation_p.K167R|NKIRAS2_ENST00000479407.1_3'UTR|NKIRAS2_ENST00000393885.4_Missense_Mutation_p.K167R|NKIRAS2_ENST00000449471.4_Missense_Mutation_p.K111R	p.K167R	NM_001001349.2	NP_001001349.1	Q9NYR9	KBRS2_HUMAN			4	1121	+		all_cancers(22;1.1e-05)|Breast(137;0.000143)|all_epithelial(22;0.000319)	167			Small GTPase-like.		A6NCZ5|B3KNN0|B4DNM3|Q6PK52|Q96KC7|Q9NSX1	Missense_Mutation	SNP	ENST00000307641.5	37	c.500A>G	CCDS11415.1	.	.	.	.	.	.	.	.	.	.	A	10.60	1.394810	0.25205	.	.	ENSG00000168256	ENST00000307641;ENST00000393884;ENST00000393880;ENST00000393881;ENST00000393885;ENST00000462043;ENST00000316082	T;T;T;T;T;T	0.77489	-1.1;-1.1;-1.1;-1.1;-1.1;-1.1	5.92	3.72	0.42706	.	0.043780	0.85682	N	0.000000	T	0.61578	0.2358	N	0.16098	0.37	0.58432	D	0.999999	B;B	0.14438	0.01;0.006	B;B	0.20184	0.013;0.028	T	0.53129	-0.8482	10	0.44086	T	0.13	-11.8755	10.2735	0.43497	0.867:0.0:0.133:0.0	.	111;167	B4DNM3;Q9NYR9	.;KBRS2_HUMAN	R	167;165;167;167;167;111;205	ENSP00000303580:K167R;ENSP00000377462:K165R;ENSP00000377458:K167R;ENSP00000377459:K167R;ENSP00000377463:K167R;ENSP00000312773:K205R	ENSP00000303580:K167R	K	+	2	0	NKIRAS2	37429361	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	6.324000	0.72896	0.501000	0.28013	0.383000	0.25322	AAG		0.612	NKIRAS2-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257457.1	NM_017595		5	71	0	0	0	0.000602	0	5	71					G	40175835	A	G	40175835	3	3	92	1	0	0	0	0	1	0	0	0	10445	72	3	4	510	4	NKIRAS2	17	40175835	Missense_Mutation	SNP	A	TCGA-EJ-7331-01A-11D-2114-08	763767	40175835	41019375	24	4734											
BPTF	2186	broad.mit.edu	37	chr17	65942002	65942002	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttcccaaggccagccacagtCacaaccccaggtacagtctt	11	7	7	16	0	2	0	1	0	1	0	3	0	3	0	5	2	3	1	5	2	3	3			TCGA-EJ-7331-01A-11D-2114-08	TCGA-EJ-7331-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	532ff1cc-59ff-4078-a917-5e3934db4cc7	ff40c43c-8061-4654-8af7-8200b006260c	g.chr17:65942002C>T	ENST00000321892.4	+	23	7617	c.7556C>T	c.(7555-7557)tCa>tTa	p.S2519L	BPTF_ENST00000335221.5_Missense_Mutation_p.S2519L|BPTF_ENST00000306378.6_Missense_Mutation_p.S2393L|BPTF_ENST00000424123.3_Missense_Mutation_p.S2380L			Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	2519					anterior/posterior pattern specification (GO:0009952)|ATP catabolic process (GO:0006200)|brain development (GO:0007420)|chromatin remodeling (GO:0006338)|embryonic placenta development (GO:0001892)|endoderm development (GO:0007492)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)|NURF complex (GO:0016589)	sequence-specific DNA binding (GO:0043565)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			CAGCCACAGTCACAACCCCAG	0.453																																						ENST00000321892.4																			0				NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						c.(7555-7557)tCa>tTa		bromodomain PHD finger transcription factor							131	120	124					17																	65942002		2203	4300	6503	SO:0001583	missense	2186				brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NURF complex	sequence-specific DNA binding|transcription factor binding|zinc ion binding	g.chr17:65942002C>T	AY282495	CCDS11673.1	17q24	2013-01-28	2006-12-01	2006-12-01	ENSG00000171634	ENSG00000171634		"Zinc fingers, PHD-type"	3581	protein-coding gene	gene with protein product		601819	"fetal Alzheimer antigen"	FALZ		8975731, 10662542, 16728976	Standard	NM_182641		Approved	FAC1, NURF301	uc002jgf.3	Q12830	OTTHUMG00000132254	ENST00000321892.4:c.7556C>T	17.37:g.65942002C>T	ENSP00000315454:p.Ser2519Leu					BPTF_ENST00000306378.6_Missense_Mutation_p.S2393L|BPTF_ENST00000424123.3_Missense_Mutation_p.S2380L|BPTF_ENST00000335221.5_Missense_Mutation_p.S2519L	p.S2519L			Q12830	BPTF_HUMAN	BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)		23	7617	+	all_cancers(12;6e-11)		2519					Q6NX67|Q7Z7D6|Q9UIG2	Missense_Mutation	SNP	ENST00000321892.4	37	c.7556C>T		.	.	.	.	.	.	.	.	.	.	C	16.80	3.224217	0.58668	.	.	ENSG00000171634	ENST00000306378;ENST00000335221;ENST00000321892;ENST00000424123	T;T;T	0.63096	-0.02;0.1;0.02	6.16	6.16	0.99307	.	.	.	.	.	T	0.53302	0.1788	L	0.35723	1.085	0.09310	N	0.999992	B;B;B	0.11235	0.001;0.004;0.004	B;B;B	0.11329	0.002;0.006;0.006	T	0.43798	-0.9369	9	0.52906	T	0.07	-3.2299	11.1404	0.48400	0.0:0.8609:0.0:0.1391	.	197;2393;2519	B4DJV8;Q12830-2;Q12830-4	.;.;.	L	2393;2519;2519;190	ENSP00000307208:S2393L;ENSP00000334351:S2519L;ENSP00000315454:S2519L	ENSP00000307208:S2393L	S	+	2	0	BPTF	63372464	0.054000	0.20591	0.997000	0.53966	0.957000	0.61999	2.736000	0.47385	2.937000	0.99478	0.650000	0.86243	TCA		0.453	BPTF-201	KNOWN	basic	protein_coding	protein_coding		NM_182641, NM_004459		5	88	0	0	0	0.001168	0	5	88					T	65942002	C	T	65942002	3	4	92	1	0	0	0	0	1	0	0	0	1495	838	29	3	7646	3	BPTF	17	65942002	Missense_Mutation	SNP	C	TCGA-EJ-7331-01A-11D-2114-08	25766167	65942002	15253208	25	4735											
UBE2O	63893	broad.mit.edu	37	chr17	74396560	74396560	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gtgatgacagagggtgggggGctgacgctgtccgtgccccc	5	7	18	11	2	0	4	0	3	0	1	1	4	1	4	3	4	1	2	3	4	0	0			TCGA-EJ-7331-01A-11D-2114-08	TCGA-EJ-7331-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	532ff1cc-59ff-4078-a917-5e3934db4cc7	ff40c43c-8061-4654-8af7-8200b006260c	g.chr17:74396560G>A	ENST00000319380.7	-	7	1030	c.966C>T	c.(964-966)agC>agT	p.S322S	UBE2O_ENST00000587581.1_5'Flank	NM_022066.3	NP_071349.3	Q9C0C9	UBE2O_HUMAN	ubiquitin-conjugating enzyme E2O	322					positive regulation of BMP signaling pathway (GO:0030513)|protein K63-linked ubiquitination (GO:0070534)|protein monoubiquitination (GO:0006513)|retrograde transport, endosome to Golgi (GO:0042147)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36						AGGGTGGGGGGCTGACGCTGT	0.607																																						ENST00000319380.7																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36						c.(964-966)agC>agT		ubiquitin-conjugating enzyme E2O							64	60	61					17																	74396560		2203	4300	6503	SO:0001819	synonymous_variant	63893						ATP binding|ubiquitin-protein ligase activity	g.chr17:74396560G>A	AB051521	CCDS32742.1	17q25.1	2013-10-09			ENSG00000175931	ENSG00000175931			29554	protein-coding gene	gene with protein product						11311559, 11214970	Standard	NM_022066		Approved	E2-230K	uc002jrm.4	Q9C0C9	OTTHUMG00000180178	ENST00000319380.7:c.966C>T	17.37:g.74396560G>A							p.S322S	NM_022066.3	NP_071349.3	Q9C0C9	UBE2O_HUMAN			7	1030	-			322					A6NDU5|Q69YP4|Q6PIZ2|Q86UA4|Q8N425|Q8TBN1|Q9BSW1|Q9H6E6|Q9H7E4|Q9H9B2	Silent	SNP	ENST00000319380.7	37	c.966C>T	CCDS32742.1																																																																																				0.607	UBE2O-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450123.1	NM_022066		7	35	0	0	0	0.006214	0	7	35					A	74396560	G	A	74396560	2	1	92	1	0	0	0	0	0	0	0	1	16865	1194	42	3		3	UBE2O	17	74396560	Silent	SNP	G	TCGA-EJ-7331-01A-11D-2114-08	8454558	74396560	6798650	26	4736											
KIAA1632	57724	broad.mit.edu	37	chr18	43497668	43497668	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cattcttcagaaggtaatacTggcaagggtaaaataaaggc	16	9	10	6	0	2	1	1	0	1	1	2	1	2	1	0	4	1	3	0	4	8	6			TCGA-EJ-7331-01A-11D-2114-08	TCGA-EJ-7331-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	532ff1cc-59ff-4078-a917-5e3934db4cc7	ff40c43c-8061-4654-8af7-8200b006260c	g.chr18:43497668T>C	ENST00000282041.5	-	17	3249	c.3215A>G	c.(3214-3216)cAg>cGg	p.Q1072R	EPG5_ENST00000585906.1_5'Flank	NM_020964.2	NP_066015.2	Q9HCE0	EPG5_HUMAN	ectopic P-granules autophagy protein 5 homolog (C. elegans)	1072					autophagic vacuole maturation (GO:0097352)|autophagy (GO:0006914)|endocytic recycling (GO:0032456)					NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	95						AAGGTAATACTGGCAAGGGTA	0.428																																						ENST00000282041.5																			0				NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	95						c.(3214-3216)cAg>cGg		ectopic P-granules autophagy protein 5 homolog (C. elegans)							172	159	163					18																	43497668		1880	4118	5998	SO:0001583	missense	57724				autophagy			g.chr18:43497668T>C	AK023817	CCDS11926.2	18q12.3	2011-03-02	2011-03-02	2011-03-02	ENSG00000152223	ENSG00000152223			29331	protein-coding gene	gene with protein product		615068	"KIAA1632"	KIAA1632		10997877, 20550938	Standard	XM_005258323		Approved	hEPG5	uc002lbm.3	Q9HCE0	OTTHUMG00000132626	ENST00000282041.5:c.3215A>G	18.37:g.43497668T>C	ENSP00000282041:p.Gln1072Arg						p.Q1072R	NM_020964.2	NP_066015.2	Q9HCE0	EPG5_HUMAN			17	3249	-			1072					A2BDF3|Q9H8C8	Missense_Mutation	SNP	ENST00000282041.5	37	c.3215A>G	CCDS11926.2	.	.	.	.	.	.	.	.	.	.	T	6.303	0.424076	0.11928	.	.	ENSG00000152223	ENST00000282041	T	0.09911	2.93	5.4	5.4	0.78164	.	1.079280	0.06987	N	0.820984	T	0.17577	0.0422	L	0.59436	1.845	0.41689	D	0.989331	B;B	0.28082	0.2;0.2	B;B	0.26416	0.069;0.069	T	0.06752	-1.0809	10	0.48119	T	0.1	-15.201	15.712	0.77635	0.0:0.0:0.0:1.0	.	1072;1072	Q9HCE0-2;Q9HCE0	.;EPG5_HUMAN	R	1072	ENSP00000282041:Q1072R	ENSP00000282041:Q1072R	Q	-	2	0	EPG5	41751666	1.000000	0.71417	1.000000	0.80357	0.375000	0.29983	3.489000	0.53237	2.178000	0.69098	0.533000	0.62120	CAG		0.428	EPG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445081.1	NM_020964		45	126	0	0	0	0.00361	0	45	126					C	43497668	T	C	43497668	3	2	92	1	0	0	0	0	1	0	0	0	8249	1580	55	4	4636	4	KIAA1632	18	43497668	Missense_Mutation	SNP	T	TCGA-EJ-7331-01A-11D-2114-08		43497668	34579580	27	4737											
TRIP10	9322	broad.mit.edu	37	chr19	6750305	6750305	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgtcccctcctcccaggcGtggctggcagaagctgaaag	7	7	12	15	1	0	2	0	1	0	1	3	2	3	2	5	3	1	3	5	3	2	0			TCGA-EJ-7331-01A-11D-2114-08	TCGA-EJ-7331-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	532ff1cc-59ff-4078-a917-5e3934db4cc7	ff40c43c-8061-4654-8af7-8200b006260c	g.chr19:6750305G>A	ENST00000313244.9	+	13	1433	c.1398G>A	c.(1396-1398)gcG>gcA	p.A466A	TRIP10_ENST00000313285.8_Silent_p.A410A|CTD-3128G10.6_ENST00000594056.1_RNA|TRIP10_ENST00000600428.1_Silent_p.A302A|TRIP10_ENST00000596758.1_Silent_p.A410A			Q15642	CIP4_HUMAN	thyroid hormone receptor interactor 10	466	Interaction with CDC42.|Interaction with PDE6G. {ECO:0000250}.				actin cytoskeleton organization (GO:0030036)|cell communication (GO:0007154)|endocytosis (GO:0006897)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|lysosome (GO:0005764)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)|lipid binding (GO:0008289)			NS(1)|breast(1)|endometrium(1)|large_intestine(1)|liver(2)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	16						CCTCCCAGGCGTGGCTGGCAG	0.667																																						ENST00000600428.1																			0				NS(1)|breast(1)|endometrium(1)|large_intestine(1)|liver(2)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	16						c.(904-906)gcG>gcA		thyroid hormone receptor interactor 10							54	63	60					19																	6750305		2203	4300	6503	SO:0001819	synonymous_variant	9322				actin cytoskeleton organization|cell communication|endocytosis|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell cortex|cell projection|cytoskeleton|cytosol|Golgi apparatus|lysosome|perinuclear region of cytoplasm|phagocytic cup	GTPase activator activity|identical protein binding|lipid binding	g.chr19:6750305G>A	AB072596	CCDS12172.1, CCDS74271.1, CCDS74272.1	19p13.3	2008-02-05			ENSG00000125733	ENSG00000125733			12304	protein-coding gene	gene with protein product	"Cdc42-interacting protein"	604504	"salt tolerator"	STOT		7776974, 9210375, 11294612	Standard	XM_005259683		Approved	STP, HSTP, CIP4	uc002mfr.3	Q15642	OTTHUMG00000150255	ENST00000313244.9:c.1398G>A	19.37:g.6750305G>A						TRIP10_ENST00000596758.1_Silent_p.A410A|TRIP10_ENST00000313285.8_Silent_p.A410A|TRIP10_ENST00000313244.9_Silent_p.A466A|CTD-3128G10.6_ENST00000594056.1_RNA	p.A302A			Q15642	CIP4_HUMAN			12	1552	+			466			Interaction with CDC42.|Interaction with PDE6G (By similarity).		B2R8A6|B7WP22|D6W645|O15184|Q53G22|Q5TZN1|Q6FI24|Q8NFL1|Q8TCY1|Q8TDX3|Q96RJ1	Silent	SNP	ENST00000313244.9	37	c.906G>A																																																																																					0.667	TRIP10-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000317129.2			30	145	0	0	0	0.004878	0	30	145					A	6750305	G	A	6750305	2	1	92	1	0	0	0	0	0	0	0	1	16551	1132	40	1		1	TRIP10	19	6750305	Silent	SNP	G	TCGA-EJ-7331-01A-11D-2114-08		6750305	52378678	28	4738											
ZNF846	162993	broad.mit.edu	37	chr19	9868372	9868372	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	catattaagatttgtggaacGagcaaatgctttaccgcatt	13	13	8	7	2	0	1	0	0	0	1	0	3	0	2	1	1	4	3	1	1	5	6			TCGA-EJ-7331-01A-11D-2114-08	TCGA-EJ-7331-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	532ff1cc-59ff-4078-a917-5e3934db4cc7	ff40c43c-8061-4654-8af7-8200b006260c	g.chr19:9868372G>A	ENST00000397902.2	-	6	1794	c.1381C>T	c.(1381-1383)Cgt>Tgt	p.R461C	ZNF846_ENST00000592859.1_Intron|ZNF846_ENST00000588267.1_Intron|ZNF846_ENST00000586293.1_3'UTR	NM_001077624.1	NP_001071092.1	Q147U1	ZN846_HUMAN	zinc finger protein 846	461					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	22						TTTGTGGAACGAGCAAATGCT	0.433																																						ENST00000397902.2																			0				NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	22						c.(1381-1383)Cgt>Tgt		zinc finger protein 846							94	104	101					19																	9868372		2152	4281	6433	SO:0001583	missense	162993				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:9868372G>A	AK097652	CCDS42496.1	19p13.2	2013-01-08			ENSG00000196605	ENSG00000196605		"Zinc fingers, C2H2-type", "-"	27260	protein-coding gene	gene with protein product							Standard	NM_001077624		Approved		uc002mmb.1	Q147U1		ENST00000397902.2:c.1381C>T	19.37:g.9868372G>A	ENSP00000380999:p.Arg461Cys					ZNF846_ENST00000592859.1_Intron|ZNF846_ENST00000588267.1_Intron|ZNF846_ENST00000586293.1_3'UTR	p.R461C	NM_001077624.1	NP_001071092.1	Q147U1	ZN846_HUMAN			6	1794	-			461					A8K0H1|B3KUP1	Missense_Mutation	SNP	ENST00000397902.2	37	c.1381C>T	CCDS42496.1	.	.	.	.	.	.	.	.	.	.	.	3.252	-0.153094	0.06585	.	.	ENSG00000196605	ENST00000397902	T	0.07567	3.18	2.14	-4.28	0.03732	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.08492	0.0211	L	0.28504	0.86	0.09310	N	1	D	0.71674	0.998	P	0.53549	0.729	T	0.10590	-1.0623	8	.	.	.	.	4.978	0.14151	0.4007:0.4065:0.1928:0.0	.	461	Q147U1	ZN846_HUMAN	C	461	ENSP00000380999:R461C	.	R	-	1	0	ZNF846	9729372	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-5.708000	0.00103	-1.059000	0.03193	-0.266000	0.10368	CGT		0.433	ZNF846-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450253.1	NM_001077624		13	62	0	0	0	0.001855	0	13	62					A	9868372	G	A	9868372	3	1	92	1	0	0	0	0	1	0	0	0	18189	1058	37	2	224	2	ZNF846	19	9868372	Missense_Mutation	SNP	G	TCGA-EJ-7331-01A-11D-2114-08	3118067	9868372	49260611	29	4739											
PIK3R2	5296	broad.mit.edu	37	chr19	18277058	18277058	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccagactcaagagaaatgcaGcaaggaatacctggagcgct	15	5	11	10	1	1	2	1	0	0	2	1	5	1	4	2	2	4	3	2	2	5	1			TCGA-EJ-7331-01A-11D-2114-08	TCGA-EJ-7331-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	532ff1cc-59ff-4078-a917-5e3934db4cc7	ff40c43c-8061-4654-8af7-8200b006260c	g.chr19:18277058G>A	ENST00000593731.1	+	12	2065	c.1505G>A	c.(1504-1506)aGc>aAc	p.S502N	PIK3R2_ENST00000222254.8_Missense_Mutation_p.S502N			O00459	P85B_HUMAN	phosphoinositide-3-kinase, regulatory subunit 2 (beta)	502					blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)	cytosol (GO:0005829)|phosphatidylinositol 3-kinase complex (GO:0005942)	phosphatidylinositol 3-kinase regulator activity (GO:0035014)|receptor tyrosine kinase binding (GO:0030971)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(3)|pancreas(1)|stomach(1)	24					Isoprenaline(DB01064)	GAGAAATGCAGCAAGGAATAC	0.562																																						ENST00000593731.1																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(3)|pancreas(1)|stomach(1)	24						c.(1504-1506)aGc>aAc		phosphoinositide-3-kinase, regulatory subunit 2 (beta)							68	68	68					19																	18277058		2203	4300	6503	SO:0001583	missense	5296				fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|negative regulation of anti-apoptosis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|T cell costimulation|T cell receptor signaling pathway	phosphatidylinositol 3-kinase complex	GTPase activator activity|phosphatidylinositol 3-kinase regulator activity|protein binding	g.chr19:18277058G>A		CCDS12371.1	19p13.11	2013-03-28	2008-02-04		ENSG00000105647	ENSG00000105647		"SH2 domain containing"	8980	protein-coding gene	gene with protein product		603157				1314371	Standard	NM_005027		Approved	P85B, p85	uc002nia.2	O00459	OTTHUMG00000183383	ENST00000593731.1:c.1505G>A	19.37:g.18277058G>A	ENSP00000471914:p.Ser502Asn					PIK3R2_ENST00000222254.7_Missense_Mutation_p.S502N	p.S502N			O00459	P85B_HUMAN			12	2065	+			502					Q5EAT5|Q9UPH9	Missense_Mutation	SNP	ENST00000593731.1	37	c.1505G>A	CCDS12371.1	.	.	.	.	.	.	.	.	.	.	G	17.42	3.386221	0.61956	.	.	ENSG00000105647	ENST00000222254	T	0.50001	0.76	4.37	4.37	0.52481	.	0.043016	0.85682	D	0.000000	T	0.65616	0.2708	M	0.83312	2.635	0.80722	D	1	D	0.58268	0.982	P	0.54965	0.765	T	0.72795	-0.4185	10	0.59425	D	0.04	-49.9238	16.7884	0.85580	0.0:0.0:1.0:0.0	.	502	O00459	P85B_HUMAN	N	502	ENSP00000222254:S502N	ENSP00000222254:S502N	S	+	2	0	PIK3R2	18138058	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	7.682000	0.84083	2.378000	0.81104	0.561000	0.74099	AGC		0.562	PIK3R2-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	nonsense_mediated_decay	protein_coding	OTTHUMT00000466386.2	NM_005027		3	49	0	0	0	0.004672	0	3	49					A	18277058	G	A	18277058	3	1	92	1	0	0	0	0	1	0	0	0	11919	971	34	3	1547	3	PIK3R2	19	18277058	Missense_Mutation	SNP	G	TCGA-EJ-7331-01A-11D-2114-08	8408686	18277058	40851925	30	4740											
TRPM4	54795	broad.mit.edu	37	chr19	49700013	49700013	+	Frame_Shift_Del	DEL	G	G	-																															gcgggggcagcctcgccagcGggggccccgggcctggccat																								rs376922318		TCGA-EJ-7331-01A-11D-2114-08	TCGA-EJ-7331-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	532ff1cc-59ff-4078-a917-5e3934db4cc7	ff40c43c-8061-4654-8af7-8200b006260c	g.chr19:49700013delG	ENST00000252826.5	+	17	2653	c.2527delG	c.(2527-2529)gggfs	p.G844fs	TRPM4_ENST00000427978.2_Intron|TRPM4_ENST00000355712.5_Frame_Shift_Del_p.G490fs	NM_017636.3	NP_060106.2	Q8TD43	TRPM4_HUMAN	transient receptor potential cation channel, subfamily M, member 4	844			G -> D (in PFHB1B; right bundle-branch block; dbSNP:rs200038418). {ECO:0000269|PubMed:20562447, ECO:0000269|PubMed:21887725}.		calcium ion transmembrane transport (GO:0070588)|cardiac conduction (GO:0061337)|dendritic cell chemotaxis (GO:0002407)|ion transmembrane transport (GO:0034220)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell proliferation (GO:0008284)|protein sumoylation (GO:0016925)|regulation of membrane potential (GO:0042391)|regulation of T cell cytokine production (GO:0002724)|transmembrane transport (GO:0055085)|vasoconstriction (GO:0042310)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium activated cation channel activity (GO:0005227)|calcium channel activity (GO:0005262)			breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(18)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	49		all_lung(116;8.54e-05)|Lung NSC(112;0.000139)|all_neural(266;0.0506)|Ovarian(192;0.15)		all cancers(93;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000222)|GBM - Glioblastoma multiforme(486;0.00339)|Epithelial(262;0.00751)		CCTCGCCAGCGGGGGCCCCGG	0.697																																						ENST00000252826.5																			0				breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(18)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	49						c.(2527-2529)ggfs		transient receptor potential cation channel, subfamily M, member 4																																				SO:0001589	frameshift_variant	54795				dendritic cell chemotaxis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell proliferation|protein sumoylation|regulation of T cell cytokine production	endoplasmic reticulum|Golgi apparatus|integral to membrane|plasma membrane	ATP binding|calcium activated cation channel activity|calmodulin binding	g.chr19:49700013delG	AK000048	CCDS33073.1, CCDS56098.1	19q13.3	2011-12-14				ENSG00000130529		"Voltage-gated ion channels / Transient receptor potential cation channels"	17993	protein-coding gene	gene with protein product		606936				11535825, 16382100	Standard	NM_017636		Approved	FLJ20041	uc002pmw.3	Q8TD43		ENST00000252826.5:c.2527delG	19.37:g.49700013delG	ENSP00000252826:p.Gly844fs					TRPM4_ENST00000355712.5_Frame_Shift_Del_p.G490fs|TRPM4_ENST00000427978.2_Intron	p.G844fs	NM_017636.3	NP_060106.2	Q8TD43	TRPM4_HUMAN		all cancers(93;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000222)|GBM - Glioblastoma multiforme(486;0.00339)|Epithelial(262;0.00751)	17	2653	+		all_lung(116;8.54e-05)|Lung NSC(112;0.000139)|all_neural(266;0.0506)|Ovarian(192;0.15)	844					A2RU25|Q7Z5D9|Q96L84|Q9NXV1	Frame_Shift_Del	DEL	ENST00000252826.5	37	c.2527delG	CCDS33073.1																																																																																				0.697	TRPM4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465543.2	NM_017636		2	4						2	4	---	---	---	---	-	49700013	G	-	49700013	7	5	92	1	0	1	0	1	0	0	0	0	16585	1116	39	0	2593	0	TRPM4	19	49700013	Frame_Shift_Del	DEL	G	TCGA-EJ-7331-01A-11D-2114-08	31422955	49700013	9428970	31	4741											
ZNF761	388561	broad.mit.edu	37	chr19	53958820	53958820	+	RNA	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cttcatactggagagaaaccTtacaagtgtaatgagtgtgg	13	11	11	6	0	1	2	1	1	0	1	1	4	1	3	1	2	3	1	1	2	5	4			TCGA-EJ-7331-01A-11D-2114-08	TCGA-EJ-7331-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	532ff1cc-59ff-4078-a917-5e3934db4cc7	ff40c43c-8061-4654-8af7-8200b006260c	g.chr19:53958820T>C	ENST00000454407.1	+	0	1512							Q86XN6	ZN761_HUMAN	zinc finger protein 761						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	30				GBM - Glioblastoma multiforme(134;0.00786)		GAGAGAAACCTTACAAGTGTA	0.408																																						ENST00000454407.1																			0				endometrium(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	30								zinc finger protein 761							146	146	146					19																	53958820		2203	4300	6503			388561				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53958820T>C	AB107355		19q13.42	2007-10-05	2006-08-11	2006-08-11	ENSG00000160336	ENSG00000160336		"Zinc fingers, C2H2-type"	23179	protein-coding gene	gene with protein product							Standard	NM_001008401		Approved	KIAA2033, FLJ16231, FLJ35333	uc010eqp.3	Q86XN6	OTTHUMG00000156999		19.37:g.53958820T>C										Q86XN6	ZN761_HUMAN		GBM - Glioblastoma multiforme(134;0.00786)	0	1512	+								Q6ZNB9	RNA	SNP	ENST00000454407.1	37																																																																																						0.408	ZNF761-203	KNOWN	basic	processed_transcript	processed_transcript		NM_001008401		4	241	0	0	0	0.000602	0	4	241					C	53958820	T	C	53958820	1	2	92	0	1	0	0	0	0	0	0	0	18133	1596	56	4		4	ZNF761	19	53958820	RNA	SNP	T	TCGA-EJ-7331-01A-11D-2114-08	4258807	53958820	5170163	32	4742											
ASXL1	171023	broad.mit.edu	37	chr20	31024752	31024752	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tggacttgcccttctggaaaTtaccccgagagccagggaag	10	8	12	11	1	1	1	0	0	1	1	1	5	1	4	4	3	3	0	4	3	3	3			TCGA-EJ-7331-01A-11D-2114-08	TCGA-EJ-7331-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	532ff1cc-59ff-4078-a917-5e3934db4cc7	ff40c43c-8061-4654-8af7-8200b006260c	g.chr20:31024752T>G	ENST00000375687.4	+	13	4661	c.4237T>G	c.(4237-4239)Tta>Gta	p.L1413V	ASXL1_ENST00000306058.5_Missense_Mutation_p.L1408V	NM_015338.5	NP_056153	Q8IXJ9	ASXL1_HUMAN	additional sex combs like transcriptional regulator 1	1413					bone development (GO:0060348)|monoubiquitinated histone H2A deubiquitination (GO:0035522)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035359)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of retinoic acid receptor signaling pathway (GO:0048386)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to retinoic acid (GO:0032526)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nuclear chromatin (GO:0000790)|PR-DUB complex (GO:0035517)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|peroxisome proliferator activated receptor binding (GO:0042975)|retinoic acid receptor binding (GO:0042974)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(655)|kidney(5)|large_intestine(18)|liver(1)|lung(27)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	722						CTTCTGGAAATTACCCCGAGA	0.542			"F, N, Mis"		"MDS, CMML"																																	ENST00000375687.4				Rec	yes		20	20q11.1	171023	"F, N, Mis"	additional sex combs like 1			L			"MDS, CMML"		0				NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(655)|kidney(5)|large_intestine(18)|liver(1)|lung(27)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	722						c.(4237-4239)Tta>Gta		additional sex combs like 1 (Drosophila)							107	112	110					20																	31024752		2203	4300	6503	SO:0001583	missense	171023				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	PR-DUB complex	metal ion binding|protein binding	g.chr20:31024752T>G	AJ438952	CCDS13201.1	20q11	2014-09-17	2014-06-17		ENSG00000171456	ENSG00000171456			18318	protein-coding gene	gene with protein product		612990	"additional sex combs like 1 (Drosophila)"			12657473	Standard	NM_015338		Approved	KIAA0978	uc002wxs.3	Q8IXJ9	OTTHUMG00000032218	ENST00000375687.4:c.4237T>G	20.37:g.31024752T>G	ENSP00000364839:p.Leu1413Val					ASXL1_ENST00000306058.5_Missense_Mutation_p.L1408V	p.L1413V	NM_015338.5	NP_056153.2	Q8IXJ9	ASXL1_HUMAN			13	4661	+			1413					B2RP59|Q5JWS9|Q8IYY7|Q9H466|Q9NQF8|Q9UFJ0|Q9UFP8|Q9Y2I4	Missense_Mutation	SNP	ENST00000375687.4	37	c.4237T>G	CCDS13201.1	.	.	.	.	.	.	.	.	.	.	T	11.61	1.691121	0.30052	.	.	ENSG00000171456	ENST00000358956;ENST00000375687;ENST00000421155;ENST00000412498;ENST00000306058	T;T	0.30981	1.53;1.51	4.42	2.19	0.27852	.	0.098308	0.37393	N	0.002105	T	0.22898	0.0553	L	0.34521	1.04	0.29815	N	0.83133	P;P	0.52316	0.884;0.952	B;B	0.43754	0.43;0.368	T	0.11991	-1.0565	10	0.62326	D	0.03	-0.624	7.9846	0.30205	0.0:0.2478:0.0:0.7522	.	1408;1413	A6NIZ6;Q8IXJ9	.;ASXL1_HUMAN	V	1413;1413;1413;1334;1408	ENSP00000364839:L1413V;ENSP00000305119:L1408V	ENSP00000305119:L1408V	L	+	1	2	ASXL1	30488413	1.000000	0.71417	0.998000	0.56505	0.975000	0.68041	0.947000	0.29082	0.486000	0.27676	0.533000	0.62120	TTA		0.542	ASXL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078624.2	NM_015338		3	162	0	0	0	0.000248	0	3	162					G	31024752	T	G	31024752	3	3	92	1	0	0	0	0	1	0	0	0	1066	1490	52	5	4293	5	ASXL1	20	31024752	Missense_Mutation	SNP	T	TCGA-EJ-7331-01A-11D-2114-08		31024752	32000768	33	4743											
EMILIN3	90187	broad.mit.edu	37	chr20	39991280	39991280	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccagcaggctcccccagagtCggtgcagccgtcggtccacg	6	5	13	17	4	0	1	0	0	0	1	4	1	2	1	5	3	3	3	5	3	0	0	rs544595291		TCGA-EJ-7331-01A-11D-2114-08	TCGA-EJ-7331-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	532ff1cc-59ff-4078-a917-5e3934db4cc7	ff40c43c-8061-4654-8af7-8200b006260c	g.chr20:39991280C>T	ENST00000332312.3	-	4	1121	c.929G>A	c.(928-930)cGa>cAa	p.R310Q		NM_052846.1	NP_443078.1	Q9NT22	EMIL3_HUMAN	elastin microfibril interfacer 3	310						cytoplasm (GO:0005737)|proteinaceous extracellular matrix (GO:0005578)				biliary_tract(1)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(15)|ovary(1)|prostate(2)|skin(3)|urinary_tract(2)	30		Myeloproliferative disorder(115;0.00425)				CCCCCAGAGTCGGTGCAGCCG	0.667													C|||	1	0.000199681	8e-04	0	5008	,	,		17865	0		0	False		,,,				2504	0					ENST00000332312.3																			0				biliary_tract(1)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(15)|ovary(1)|prostate(2)|skin(3)|urinary_tract(2)	30						c.(928-930)cGa>cAa		elastin microfibril interfacer 3							26	27	27					20																	39991280		2203	4300	6503	SO:0001583	missense	90187					proteinaceous extracellular matrix		g.chr20:39991280C>T	AL031667	CCDS13316.1	20q12	2005-11-06	2004-03-02	2004-03-02	ENSG00000183798	ENSG00000183798		"EMI domain containing"	16123	protein-coding gene	gene with protein product	"chromosome 20 open reading frame 130"	608929	"elastin microfibril interfacer 5"	C20orf130, EMILIN5		12221002	Standard	NM_052846		Approved	dJ620E11.4	uc002xjy.1	Q9NT22	OTTHUMG00000046304	ENST00000332312.3:c.929G>A	20.37:g.39991280C>T	ENSP00000332806:p.Arg310Gln						p.R310Q	NM_052846.1	NP_443078.1	Q9NT22	EMIL3_HUMAN			4	1121	-		Myeloproliferative disorder(115;0.00425)	310					Q495S5|Q495S6|Q495S7|Q76KT4	Missense_Mutation	SNP	ENST00000332312.3	37	c.929G>A	CCDS13316.1	.	.	.	.	.	.	.	.	.	.	C	9.572	1.121232	0.20877	.	.	ENSG00000183798	ENST00000332312	T	0.13901	2.55	5.3	0.552	0.17230	.	0.760060	0.12107	N	0.498885	T	0.10895	0.0266	L	0.51422	1.61	0.09310	N	1	B	0.24043	0.096	B	0.11329	0.006	T	0.30119	-0.9989	9	.	.	.	-2.4682	5.629	0.17499	0.1326:0.4767:0.0:0.3907	.	310	Q9NT22	EMIL3_HUMAN	Q	310	ENSP00000332806:R310Q	.	R	-	2	0	EMILIN3	39424694	0.000000	0.05858	0.288000	0.24862	0.969000	0.65631	-2.079000	0.01369	0.237000	0.21200	0.462000	0.41574	CGA		0.667	EMILIN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106876.2	XM_029741		3	19	0	0	0	0.000248	0	3	19					T	39991280	C	T	39991280	3	4	92	1	0	0	0	0	1	0	0	0	5095	884	31	2	1375	2	EMILIN3	20	39991280	Missense_Mutation	SNP	C	TCGA-EJ-7331-01A-11D-2114-08	8966528	39991280	23034240	34	4744											
COL18A1	80781	broad.mit.edu	37	chr21	46913428	46913428	+	Frame_Shift_Del	DEL	A	A	-																															attccagggtgagaagggtgAaccgggcagcatcttcagcc																										TCGA-EJ-7331-01A-11D-2114-08	TCGA-EJ-7331-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	532ff1cc-59ff-4078-a917-5e3934db4cc7	ff40c43c-8061-4654-8af7-8200b006260c	g.chr21:46913428delA	ENST00000359759.4	+	25	3557	c.3536delA	c.(3535-3537)gaafs	p.E1179fs	COL18A1_ENST00000459895.1_3'UTR|COL18A1_ENST00000400337.2_Frame_Shift_Del_p.E764fs|COL18A1_ENST00000355480.5_Frame_Shift_Del_p.E944fs			P39060	COIA1_HUMAN	collagen, type XVIII, alpha 1	1179	Triple-helical region 5 (COL5).				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|endothelial cell morphogenesis (GO:0001886)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of cell proliferation (GO:0008285)|organ morphogenesis (GO:0009887)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell apoptotic process (GO:2000353)|response to drug (GO:0042493)|response to hydrostatic pressure (GO:0051599)|visual perception (GO:0007601)	basement membrane (GO:0005604)|collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|structural molecule activity (GO:0005198)			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25				Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929)		GAGAAGGGTGAACCGGGCAGC	0.692																																						ENST00000359759.4																			0				breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25						c.(3535-3537)gafs		collagen, type XVIII, alpha 1							16	20	19					21																	46913428		2027	4122	6149	SO:0001589	frameshift_variant	80781				cell adhesion|negative regulation of cell proliferation|organ morphogenesis|visual perception	collagen|extracellular space	extracellular matrix structural constituent|metal ion binding|protein binding	g.chr21:46913428delA		CCDS42971.1, CCDS42972.1	21q22.3	2013-01-16			ENSG00000182871	ENSG00000182871		"Collagens"	2195	protein-coding gene	gene with protein product	"endostatin"	120328	"Knobloch syndrome, type 1"	KNO		8188291, 8776601, 10942434, 17546652	Standard	NM_130445		Approved	KS, KNO1	uc002zhi.3	P39060	OTTHUMG00000090407	ENST00000359759.4:c.3536delA	21.37:g.46913428delA	ENSP00000352798:p.Glu1179fs					COL18A1_ENST00000400337.2_Frame_Shift_Del_p.E764fs|COL18A1_ENST00000459895.1_3'UTR|COL18A1_ENST00000355480.5_Frame_Shift_Del_p.E944fs	p.E1179fs			P39060	COIA1_HUMAN		Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929)	25	3557	+			1179			Triple-helical region 5 (COL5).		A8MVI4|Q58EX6|Q6RZ39|Q6RZ40|Q6RZ41|Q8N4S4|Q8WXI5|Q96T70|Q9UK38|Q9Y6Q7|Q9Y6Q8	Frame_Shift_Del	DEL	ENST00000359759.4	37	c.3536delA																																																																																					0.692	COL18A1-201	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000206827.1			2	4						2	4	---	---	---	---	-	46913428	A	-	46913428	7	5	92	1	0	1	0	1	0	0	0	0	3675	246	9	0	3748	0	COL18A1	21	46913428	Frame_Shift_Del	DEL	A	TCGA-EJ-7331-01A-11D-2114-08		46913428	1216467	35	4745											
PARVG	64098	broad.mit.edu	37	chr22	44581708	44581708	+	Frame_Shift_Del	DEL	C	C	-																															gaggaaagaagaaatacctgCcacccacttcccggaaggac																								rs550686401		TCGA-EJ-7331-01A-11D-2114-08	TCGA-EJ-7331-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	532ff1cc-59ff-4078-a917-5e3934db4cc7	ff40c43c-8061-4654-8af7-8200b006260c	g.chr22:44581708delC	ENST00000444313.3	+	4	584	c.100delC	c.(100-102)ccafs	p.P35fs	PARVG_ENST00000453888.3_3'UTR|PARVG_ENST00000422871.1_Frame_Shift_Del_p.P35fs|PARVG_ENST00000415224.1_Frame_Shift_Del_p.P35fs	NM_022141.5	NP_071424.1	Q9HBI0	PARVG_HUMAN	parvin, gamma	35					actin cytoskeleton reorganization (GO:0031532)|cell-matrix adhesion (GO:0007160)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)	actin binding (GO:0003779)			endometrium(2)|kidney(1)|large_intestine(4)|lung(10)	17		Ovarian(80;0.024)|all_neural(38;0.0299)				GAAATACCTGCCACCCACTTC	0.587																																						ENST00000422871.1																			0				endometrium(2)|kidney(1)|large_intestine(4)|lung(10)	17						c.(100-102)cafs		parvin, gamma							73	59	63					22																	44581708		2203	4300	6503	SO:0001589	frameshift_variant	64098				cell-matrix adhesion	cytoplasm|cytoskeleton|focal adhesion	actin binding	g.chr22:44581708delC	AF237772	CCDS14057.1	22q13.31	2013-01-24			ENSG00000138964	ENSG00000138964		"Parvins"	14654	protein-coding gene	gene with protein product		608122				11171322	Standard	NM_022141		Approved		uc003bep.4	Q9HBI0	OTTHUMG00000150473	ENST00000444313.3:c.100delC	22.37:g.44581708delC	ENSP00000391583:p.Pro35fs					PARVG_ENST00000444313.2_Frame_Shift_Del_p.P35fs|PARVG_ENST00000453888.3_3'UTR|PARVG_ENST00000415224.1_Frame_Shift_Del_p.P35fs	p.P35fs	NM_001137605.1	NP_001131077.1	Q9HBI0	PARVG_HUMAN			4	524	+		Ovarian(80;0.024)|all_neural(38;0.0299)	35					B4DDW5|E7EVM6|Q9BQX5|Q9NSG1	Frame_Shift_Del	DEL	ENST00000444313.3	37	c.100delC	CCDS14057.1																																																																																				0.587	PARVG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318238.4	NM_022141		10	56						10	56	---	---	---	---	-	44581708	C	-	44581708	7	5	92	1	0	1	0	1	0	0	0	0	11470	739	26	0	106	0	PARVG	22	44581708	Frame_Shift_Del	DEL	C	TCGA-EJ-7331-01A-11D-2114-08		44581708	6722858	36	4746											
IL1RAPL1	11141	broad.mit.edu	37	chrX	29972719	29972719	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aagagactggggaagaagaaCgttttgcccttgaaatccta	14	9	11	7	1	0	4	0	1	0	3	1	6	1	5	2	2	2	1	2	2	6	4			TCGA-EJ-7331-01A-11D-2114-08	TCGA-EJ-7331-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	532ff1cc-59ff-4078-a917-5e3934db4cc7	ff40c43c-8061-4654-8af7-8200b006260c	g.chrX:29972719C>T	ENST00000378993.1	+	10	1955	c.1282C>T	c.(1282-1284)Cgt>Tgt	p.R428C	IL1RAPL1_ENST00000302196.4_Missense_Mutation_p.R428C	NM_014271.3	NP_055086.1	Q9NZN1	IRPL1_HUMAN	interleukin 1 receptor accessory protein-like 1	428	TIR. {ECO:0000255|PROSITE- ProRule:PRU00204}.				calcium ion transmembrane transport (GO:0070588)|heterophilic cell-cell adhesion (GO:0007157)|negative regulation of exocytosis (GO:0045920)|neuron differentiation (GO:0030182)|positive regulation of dendrite morphogenesis (GO:0050775)|presynaptic membrane assembly (GO:0097105)|regulation of neuron projection development (GO:0010975)|signal transduction (GO:0007165)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	receptor binding (GO:0005102)|voltage-gated calcium channel activity (GO:0005245)			biliary_tract(1)|breast(1)|endometrium(5)|large_intestine(9)|lung(38)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62						GGAAGAAGAACGTTTTGCCCT	0.353																																						ENST00000378993.1																			0				biliary_tract(1)|breast(1)|endometrium(5)|large_intestine(9)|lung(38)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62						c.(1282-1284)Cgt>Tgt		interleukin 1 receptor accessory protein-like 1							108	91	97					X																	29972719		2202	4300	6502	SO:0001583	missense	11141				innate immune response|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of exocytosis|regulation of neuron projection development	cytoplasm|integral to membrane|plasma membrane	protein binding|transmembrane receptor activity	g.chrX:29972719C>T	AJ243874	CCDS14218.1	Xp22.1-p21.3	2013-01-29	2004-02-13		ENSG00000169306	ENSG00000169306		"Interleukins and interleukin receptors", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5996	protein-coding gene	gene with protein product		300206	"mental retardation, X-linked 34", "mental retardation, X-linked 21", "mental retardation, X-linked 10"	IL1RAPL, MRX34, MRX21, MRX10		10471494, 10757639	Standard	NM_014271		Approved	OPHN4, TIGIRR-2, IL1R8	uc004dby.2	Q9NZN1	OTTHUMG00000021317	ENST00000378993.1:c.1282C>T	X.37:g.29972719C>T	ENSP00000368278:p.Arg428Cys					IL1RAPL1_ENST00000302196.4_Missense_Mutation_p.R428C	p.R428C	NM_014271.3	NP_055086.1	Q9NZN1	IRPL1_HUMAN			10	1955	+			428			TIR.		A0AVG4|Q9UJ53	Missense_Mutation	SNP	ENST00000378993.1	37	c.1282C>T	CCDS14218.1	.	.	.	.	.	.	.	.	.	.	C	15.17	2.753184	0.49362	.	.	ENSG00000169306	ENST00000378993;ENST00000302196	T;T	0.08102	3.13;3.13	5.81	3.87	0.44632	Toll/interleukin-1 receptor homology (TIR) domain (4);	0.046857	0.85682	D	0.000000	T	0.12305	0.0299	L	0.36672	1.1	0.45025	D	0.998042	D	0.71674	0.998	P	0.54924	0.764	T	0.07139	-1.0788	9	.	.	.	.	9.9095	0.41397	0.1906:0.722:0.0:0.0874	.	428	Q9NZN1	IRPL1_HUMAN	C	428	ENSP00000368278:R428C;ENSP00000305200:R428C	.	R	+	1	0	IL1RAPL1	29882640	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.981000	0.49329	1.209000	0.43321	0.594000	0.82650	CGT		0.353	IL1RAPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056155.1	NM_014271		23	21	0	0	0	0.003954	0	23	21					T	29972719	C	T	29972719	3	4	92	1	0	0	0	0	1	0	0	0	7661	536	19	1	1316	1	IL1RAPL1	23	29972719	Missense_Mutation	SNP	C	TCGA-EJ-7331-01A-11D-2114-08		29972719	125297841	37	4747											
KDM6A	7403	broad.mit.edu	37	chrX	44969495	44969495	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tctatgaccaatttacattaGtaagtcaaatcaacatgtga	16	13	5	7	0	3	2	2	2	1	0	3	2	3	2	1	0	2	1	1	0	7	5			TCGA-EJ-7331-01A-11D-2114-08	TCGA-EJ-7331-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	532ff1cc-59ff-4078-a917-5e3934db4cc7	ff40c43c-8061-4654-8af7-8200b006260c	g.chrX:44969495G>A	ENST00000377967.4	+	28	4217		c.e28+1		KDM6A_ENST00000543216.1_Splice_Site|KDM6A_ENST00000536777.1_Splice_Site|KDM6A_ENST00000382899.4_Splice_Site	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN	lysine (K)-specific demethylase 6A						canonical Wnt signaling pathway (GO:0060070)|heart morphogenesis (GO:0003007)|histone H3-K4 methylation (GO:0051568)|in utero embryonic development (GO:0001701)|mesodermal cell differentiation (GO:0048333)|multicellular organism growth (GO:0035264)|neural tube closure (GO:0001843)|notochord morphogenesis (GO:0048570)|regulation of gene expression (GO:0010468)|respiratory system process (GO:0003016)|somite rostral/caudal axis specification (GO:0032525)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|histone demethylase activity (H3-K27 specific) (GO:0071558)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)	p.0?(6)		NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						ATTTACATTAGTAAGTCAAAT	0.378			"D, N, F, S"		"renal, oesophageal SCC, MM"																																Colon(129;1273 1667 15230 27352 52914)	ENST00000377967.4				Rec	yes		X	Xp11.2	7403	"D, N, F, S"	"lysine (K)-specific demethylase 6A, UTX"			"E, L"			"renal, oesophageal SCC, MM"		6	Whole gene deletion(6)	p.0?(6)	oesophagus(2)|breast(2)|pancreas(2)	NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						c.e28+1		lysine (K)-specific demethylase 6A							105	97	100					X																	44969495		2203	4300	6503	SO:0001630	splice_region_variant	7403				histone H3-K4 methylation		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chrX:44969495G>A	AF000992	CCDS14265.1	Xp11.2	2014-09-17	2009-04-17	2009-04-17	ENSG00000147050	ENSG00000147050		"Chromatin-modifying enzymes / K-demethylases", "Tetratricopeptide (TTC) repeat domain containing"	12637	protein-coding gene	gene with protein product		300128	"ubiquitously transcribed tetratricopeptide repeat, X chromosome"	UTX		9499428, 9381176	Standard	XM_005272655		Approved		uc004dge.4	O15550	OTTHUMG00000021402	ENST00000377967.4:c.4176+1G>A	X.37:g.44969495G>A						KDM6A_ENST00000536777.1_Splice_Site|KDM6A_ENST00000382899.4_Splice_Site|KDM6A_ENST00000543216.1_Splice_Site		NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN			28	4217	+								Q52LL9|Q5JVQ7	Splice_Site	SNP	ENST00000377967.4	37		CCDS14265.1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.459215	0.84317	.	.	ENSG00000147050	ENST00000334516;ENST00000377967;ENST00000536777;ENST00000382899;ENST00000543216;ENST00000414389;ENST00000433797;ENST00000431196	.	.	.	5.68	5.68	0.88126	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.7744	0.91904	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	KDM6A	44854439	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.476000	0.97823	2.379000	0.81126	0.600000	0.82982	.		0.378	KDM6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056324.1	NM_021140	Intron	28	33	0	0	0	0.003271	0	28	33					A	44969495	G	A	44969495	5	1	92	1	0	0	0	0	0	0	1	0	8137	1043	36	3	4287	3	KDM6A	23	44969495	Splice_Site	SNP	G	TCGA-EJ-7331-01A-11D-2114-08	14996776	44969495	110301065	38	4748											
GPKOW	27238	broad.mit.edu	37	chrX	48973489	48973489	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agccagacgaaccatggcccGaacattgtcaggatcaaggc	13	5	11	12	2	2	1	2	0	0	1	2	4	2	2	3	3	3	0	3	3	3	1			TCGA-EJ-7331-01A-11D-2114-08	TCGA-EJ-7331-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	532ff1cc-59ff-4078-a917-5e3934db4cc7	ff40c43c-8061-4654-8af7-8200b006260c	g.chrX:48973489G>A	ENST00000156109.5	-	6	886	c.808C>T	c.(808-810)Cgg>Tgg	p.R270W		NM_015698.4	NP_056513.2	Q92917	GPKOW_HUMAN	G patch domain and KOW motifs	270						nucleus (GO:0005634)	nucleic acid binding (GO:0003676)			breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(11)|ovary(2)	21						ACCATGGCCCGAACATTGTCA	0.547																																						ENST00000156109.5																			0				breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(11)|ovary(2)	21						c.(808-810)Cgg>Tgg		G patch domain and KOW motifs							105	80	89					X																	48973489		2203	4300	6503	SO:0001583	missense	27238					nucleus	nucleic acid binding	g.chrX:48973489G>A	U66359	CCDS35251.1	Xp11.23	2013-01-28			ENSG00000068394	ENSG00000068394		"G patch domain containing"	30677	protein-coding gene	gene with protein product	"G patch domain containing 5"					21880142, 22365833	Standard	NM_015698		Approved	T54, GPATC5, GPATCH5, Spp2	uc004dmr.3	Q92917	OTTHUMG00000021511	ENST00000156109.5:c.808C>T	X.37:g.48973489G>A	ENSP00000156109:p.Arg270Trp						p.R270W	NM_015698.4	NP_056513.2	Q92917	GPKOW_HUMAN			6	886	-			270					Q59EK5|Q9BQA8	Missense_Mutation	SNP	ENST00000156109.5	37	c.808C>T	CCDS35251.1	.	.	.	.	.	.	.	.	.	.	G	19.56	3.849656	0.71603	.	.	ENSG00000068394	ENST00000156109	.	.	.	5.25	4.37	0.52481	KOW (1);	0.000000	0.85682	D	0.000000	T	0.75547	0.3864	M	0.65975	2.015	0.54753	D	0.999981	D	0.89917	1.0	D	0.91635	0.999	T	0.77289	-0.2643	9	0.87932	D	0	-2.7937	11.4217	0.49985	0.0:0.0:0.673:0.327	.	270	Q92917	GPKOW_HUMAN	W	270	.	ENSP00000156109:R270W	R	-	1	2	GPKOW	48860433	0.985000	0.35326	0.562000	0.28370	0.985000	0.73830	2.346000	0.44027	1.089000	0.41292	0.597000	0.82753	CGG		0.547	GPKOW-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056535.2	NM_015698		16	45	0	0	0	0.008871	0	16	45					A	48973489	G	A	48973489	3	1	92	1	0	0	0	0	1	0	0	0	6613	1057	37	2	646	2	GPKOW	23	48973489	Missense_Mutation	SNP	G	TCGA-EJ-7331-01A-11D-2114-08	4003994	48973489	106297071	39	4749											
GABRD	2563	broad.mit.edu	37	chr1	1957026	1957026	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tctcctacaaccacaccaacGagaccctgggtctggacagc	11	6	8	16	1	2	1	0	0	2	1	3	3	2	2	4	2	4	0	4	2	3	1			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	9815ad1d-4855-4da4-839c-ffcf705347d3	g.chr1:1957026G>A	ENST00000378585.4	+	4	402	c.319G>A	c.(319-321)Gag>Aag	p.E107K		NM_000815.4	NP_000806.2	O14764	GBRD_HUMAN	gamma-aminobutyric acid (GABA) A receptor, delta	107					signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			central_nervous_system(2)|endometrium(3)|kidney(2)|lung(8)|ovary(2)|prostate(1)|skin(2)	20	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;2.7e-19)|all_lung(118;1.22e-08)|Lung NSC(185;1.24e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;2.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.17e-24)|GBM - Glioblastoma multiforme(42;9.56e-08)|Colorectal(212;4.12e-05)|COAD - Colon adenocarcinoma(227;0.000194)|Kidney(185;0.00231)|BRCA - Breast invasive adenocarcinoma(365;0.00441)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0344)|Lung(427;0.2)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	CCACACCAACGAGACCCTGGG	0.637																																						ENST00000378585.4																			0				central_nervous_system(2)|endometrium(3)|kidney(2)|lung(8)|ovary(2)|prostate(1)|skin(2)	20						c.(319-321)Gag>Aag		gamma-aminobutyric acid (GABA) A receptor, delta							103	101	102					1																	1957026		2203	4300	6503	SO:0001583	missense	2563					cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chr1:1957026G>A	BC033801	CCDS36.1	1p36.3	2012-06-22			ENSG00000187730	ENSG00000187730		"GABA receptors", "Ligand-gated ion channels / GABA(A) receptors"	4084	protein-coding gene	gene with protein product	"GABA(A) receptor, delta"	137163				2176788, 10965146	Standard	NM_000815		Approved		uc001aip.2	O14764	OTTHUMG00000041064	ENST00000378585.4:c.319G>A	1.37:g.1957026G>A	ENSP00000367848:p.Glu107Lys						p.E107K	NM_000815.4	NP_000806.2	O14764	GBRD_HUMAN		Epithelial(90;2.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.17e-24)|GBM - Glioblastoma multiforme(42;9.56e-08)|Colorectal(212;4.12e-05)|COAD - Colon adenocarcinoma(227;0.000194)|Kidney(185;0.00231)|BRCA - Breast invasive adenocarcinoma(365;0.00441)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0344)|Lung(427;0.2)	4	402	+	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;2.7e-19)|all_lung(118;1.22e-08)|Lung NSC(185;1.24e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)	107					Q8N4N9	Missense_Mutation	SNP	ENST00000378585.4	37	c.319G>A	CCDS36.1	.	.	.	.	.	.	.	.	.	.	G	9.380	1.072755	0.20147	.	.	ENSG00000187730	ENST00000378585	T	0.77620	-1.11	4.4	4.4	0.53042	Neurotransmitter-gated ion-channel ligand-binding (3);	0.057624	0.64402	D	0.000001	T	0.48484	0.1502	N	0.02213	-0.635	0.45129	D	0.998145	B	0.14438	0.01	B	0.12837	0.008	T	0.50499	-0.8821	10	0.07030	T	0.85	-8.7375	10.1819	0.42972	0.0918:0.0:0.9082:0.0	.	107	O14764	GBRD_HUMAN	K	107	ENSP00000367848:E107K	ENSP00000367848:E107K	E	+	1	0	GABRD	1946886	1.000000	0.71417	0.999000	0.59377	0.952000	0.60782	3.954000	0.56708	2.444000	0.82710	0.561000	0.74099	GAG		0.637	GABRD-001	KNOWN	mRNA_start_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098493.1	NM_000815		9	87	0	0	0	0.058154	0	9	87					A	1957026	G	A	1957026	3	1	93	1	0	0	0	0	1	0	0	0	6169	1059	37	2	333	2	GABRD	1	1957026	Missense_Mutation	SNP	G	TCGA-EJ-7781-01A-11D-2114-08		1957026	247293595	1	4750											
PRAMEF1	65121	broad.mit.edu	37	chr1	12855916	12855916	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgccctgaaggacctgctgcGccacaccagtgggctgagca	8	5	13	15	2	0	2	0	2	0	0	0	3	0	3	4	2	3	3	4	2	1	0	rs534609491		TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	9815ad1d-4855-4da4-839c-ffcf705347d3	g.chr1:12855916G>A	ENST00000332296.7	+	4	1299	c.1196G>A	c.(1195-1197)cGc>cAc	p.R399H	PRAMEF1_ENST00000400814.3_Missense_Mutation_p.R154H	NM_023013.2	NP_075389.1	O95521	PRAM1_HUMAN	PRAME family member 1	399					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)					cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GACCTGCTGCGCCACACCAGT	0.557													.|||	1	0.000199681	0	0	5008	,	,		19644	0		0	False		,,,				2504	0.001					ENST00000332296.7																			0				cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35						c.(1195-1197)cGc>cAc		PRAME family member 1							49	46	47					1																	12855916		2201	4294	6495	SO:0001583	missense	65121							g.chr1:12855916G>A	AL049686	CCDS148.1	1p36.21	2013-01-17			ENSG00000116721	ENSG00000116721		"-"	28840	protein-coding gene	gene with protein product							Standard	NM_023013		Approved		uc001auj.2	O95521	OTTHUMG00000001928	ENST00000332296.7:c.1196G>A	1.37:g.12855916G>A	ENSP00000332134:p.Arg399His					PRAMEF1_ENST00000400814.3_Missense_Mutation_p.R154H	p.R399H	NM_023013.2	NP_075389.1	O95521	PRAM1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)	4	1299	+	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)	399					Q9UQP2	Missense_Mutation	SNP	ENST00000332296.7	37	c.1196G>A	CCDS148.1	.	.	.	.	.	.	.	.	.	.	.	2.972	-0.212215	0.06140	.	.	ENSG00000116721	ENST00000332296;ENST00000400814	T;T	0.49432	0.78;0.78	1.56	-0.674	0.11369	.	1.571450	0.04233	N	0.335492	T	0.30008	0.0751	L	0.27053	0.805	0.09310	N	1	B	0.18166	0.026	B	0.11329	0.006	T	0.09357	-1.0678	10	0.12430	T	0.62	.	4.1186	0.10094	0.4747:0.0:0.5253:0.0	.	399	O95521	PRAM1_HUMAN	H	399;154	ENSP00000332134:R399H;ENSP00000383616:R154H	ENSP00000332134:R399H	R	+	2	0	PRAMEF1	12778503	0.000000	0.05858	0.003000	0.11579	0.017000	0.09413	-2.135000	0.01306	-0.196000	0.10366	0.205000	0.17691	CGC		0.557	PRAMEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005458.1	NM_023013		7	147	0	0	0	0.047766	0	7	147					A	12855916	G	A	12855916	3	1	93	1	0	0	0	0	1	0	0	0	12425	1087	38	1	1206	1	PRAMEF1	1	12855916	Missense_Mutation	SNP	G	TCGA-EJ-7781-01A-11D-2114-08	10898890	12855916	236394705	2	4751											
PRAMEF2	65122	broad.mit.edu	37	chr1	12921405	12921405	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgccctgaaggacctgctgcGccacaccagtgggctgagca	8	5	13	15	2	0	2	0	2	0	0	0	3	0	3	4	2	3	3	4	2	1	0	rs143742734	byFrequency	TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	9815ad1d-4855-4da4-839c-ffcf705347d3	g.chr1:12921405G>A	ENST00000240189.2	+	4	1283	c.1196G>A	c.(1195-1197)cGc>cAc	p.R399H		NM_023014.1	NP_075390.1	O60811	PRAM2_HUMAN	PRAME family member 2	399					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)					breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(22)|prostate(6)|skin(3)|upper_aerodigestive_tract(4)	42	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;2.4e-06)|Kidney(185;4.89e-05)|COAD - Colon adenocarcinoma(227;0.000152)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GACCTGCTGCGCCACACCAGT	0.557																																						ENST00000240189.2																			0				breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(22)|prostate(6)|skin(3)|upper_aerodigestive_tract(4)	42						c.(1195-1197)cGc>cAc		PRAME family member 2		G	HIS/ARG	1,4403	2.1+/-5.4	0,1,2201	70	73	72		1196	-1.6	0	1	dbSNP_134	72	1,8591	2.2+/-6.3	0,1,4295	no	missense	PRAMEF2	NM_023014.1	29	0,2,6496	AA,AG,GG		0.0116,0.0227,0.0154	probably-damaging	399/475	12921405	2,12994	2202	4296	6498	SO:0001583	missense	65122							g.chr1:12921405G>A		CCDS149.1	1p36.21	2013-01-17			ENSG00000120952	ENSG00000120952		"-"	28841	protein-coding gene	gene with protein product							Standard	NM_023014		Approved	FLJ43580	uc001aum.1	O60811	OTTHUMG00000001986	ENST00000240189.2:c.1196G>A	1.37:g.12921405G>A	ENSP00000240189:p.Arg399His						p.R399H	NM_023014.1	NP_075390.1	O60811	PRAM2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;2.4e-06)|Kidney(185;4.89e-05)|COAD - Colon adenocarcinoma(227;0.000152)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)	4	1283	+	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)	399						Missense_Mutation	SNP	ENST00000240189.2	37	c.1196G>A	CCDS149.1	.	.	.	.	.	.	.	.	.	.	G	0.430	-0.903719	0.02453	2.27E-4	1.16E-4	ENSG00000120952	ENST00000240189	T	0.49432	0.78	0.824	-1.65	0.08291	.	1.555060	0.04295	N	0.346332	T	0.30634	0.0771	L	0.31578	0.945	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.08330	-1.0727	10	0.13470	T	0.59	.	4.0967	0.09995	0.6152:0.0:0.3848:0.0	.	399	O60811	PRAM2_HUMAN	H	399	ENSP00000240189:R399H	ENSP00000240189:R399H	R	+	2	0	PRAMEF2	12843992	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	-1.445000	0.02401	-0.729000	0.04875	-1.252000	0.01501	CGC		0.557	PRAMEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005517.1	NM_023014		19	124	0	0	0	0.049695	0	19	124					A	12921405	G	A	12921405	3	1	93	1	0	0	0	0	1	0	0	0	12435	1087	38	1	1206	1	PRAMEF2	1	12921405	Missense_Mutation	SNP	G	TCGA-EJ-7781-01A-11D-2114-08	65489	12921405	236329216	3	4752											
HPCA	3208	broad.mit.edu	37	chr1	33354639	33354639	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggaatcctcaatgtggatgAgttcaagaagatctacgcca	14	9	10	8	1	3	3	2	1	1	2	4	5	4	5	2	2	1	1	2	2	5	2			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	9815ad1d-4855-4da4-839c-ffcf705347d3	g.chr1:33354639A>G	ENST00000373467.3	+	2	242	c.140A>G	c.(139-141)gAg>gGg	p.E47G	HPCA_ENST00000480118.1_3'UTR	NM_002143.2	NP_002134.2	P84074	HPCA_HUMAN	hippocalcin	47	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.				inner ear development (GO:0048839)		actin binding (GO:0003779)|calcium ion binding (GO:0005509)			breast(1)|endometrium(1)|large_intestine(1)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	9		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)				AATGTGGATGAGTTCAAGAAG	0.537																																						ENST00000373467.3																			0				breast(1)|endometrium(1)|large_intestine(1)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	9						c.(139-141)gAg>gGg		hippocalcin							103	94	97					1																	33354639		2203	4300	6503	SO:0001583	missense	3208						actin binding|calcium ion binding	g.chr1:33354639A>G	BC001777	CCDS370.1	1p35-p34.2	2013-01-10			ENSG00000121905	ENSG00000121905		"EF-hand domain containing"	5144	protein-coding gene	gene with protein product		142622				8166736, 9931466	Standard	NM_002143		Approved		uc001bwh.3	P84074	OTTHUMG00000004017	ENST00000373467.3:c.140A>G	1.37:g.33354639A>G	ENSP00000362566:p.Glu47Gly					HPCA_ENST00000480118.1_3'UTR	p.E47G	NM_002143.2	NP_002134.2	P84074	HPCA_HUMAN			2	242	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)	47			EF-hand 1.		B2R9T3|D3DPQ7|P32076|P41211|P70510	Missense_Mutation	SNP	ENST00000373467.3	37	c.140A>G	CCDS370.1	.	.	.	.	.	.	.	.	.	.	A	16.81	3.224681	0.58668	.	.	ENSG00000121905	ENST00000373467	T	0.75938	-0.98	5.22	5.22	0.72569	EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	T	0.71134	0.3304	L	0.61387	1.9	0.80722	D	1	B	0.22414	0.069	B	0.19946	0.027	T	0.67511	-0.5652	10	0.32370	T	0.25	.	14.3821	0.66919	1.0:0.0:0.0:0.0	.	47	P84074	HPCA_HUMAN	G	47	ENSP00000362566:E47G	ENSP00000362566:E47G	E	+	2	0	HPCA	33127226	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.053000	0.93860	2.333000	0.79357	0.533000	0.62120	GAG		0.537	HPCA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011480.1	NM_002143		9	79	0	0	0	0.047766	0	9	79					G	33354639	A	G	33354639	3	3	93	1	0	0	0	0	1	0	0	0	7329	304	11	4	142	4	HPCA	1	33354639	Missense_Mutation	SNP	A	TCGA-EJ-7781-01A-11D-2114-08	20433234	33354639	215895982	4	4753											
FLG2	388698	broad.mit.edu	37	chr1	152329230	152329230	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ctataggactgactacagggGttagactcaggttgaccaca	12	9	11	9	0	1	3	1	2	0	1	1	4	1	4	1	4	1	2	1	4	4	5			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	9815ad1d-4855-4da4-839c-ffcf705347d3	g.chr1:152329230G>C	ENST00000388718.5	-	3	1104	c.1032C>G	c.(1030-1032)aaC>aaG	p.N344K	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	344	Ser-rich.				establishment of skin barrier (GO:0061436)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GACTACAGGGGTTAGACTCAG	0.502																																						ENST00000388718.5																			0				NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188						c.(1030-1032)aaC>aaG		filaggrin family member 2							143	135	137					1																	152329230		2203	4300	6503	SO:0001583	missense	388698						calcium ion binding|structural molecule activity	g.chr1:152329230G>C	AY827490	CCDS30861.1	1q21.3	2013-01-10			ENSG00000143520	ENSG00000143520		"EF-hand domain containing"	33276	protein-coding gene	gene with protein product						12477932	Standard	NM_001014342		Approved	IFPS	uc001ezw.4	Q5D862	OTTHUMG00000012245	ENST00000388718.5:c.1032C>G	1.37:g.152329230G>C	ENSP00000373370:p.Asn344Lys					FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	p.N344K	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	1104	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		344			Ser-rich.		Q9H4U1	Missense_Mutation	SNP	ENST00000388718.5	37	c.1032C>G	CCDS30861.1	.	.	.	.	.	.	.	.	.	.	G	0.064	-1.217554	0.01542	.	.	ENSG00000143520	ENST00000388718	T	0.16457	2.34	4.26	-5.98	0.02220	.	.	.	.	.	T	0.01454	0.0047	N	0.22421	0.69	0.09310	N	1	B	0.20671	0.047	B	0.17098	0.017	T	0.42916	-0.9423	9	0.06494	T	0.89	-1.0966	0.5999	0.00743	0.3296:0.1147:0.1896:0.3661	.	344	Q5D862	FILA2_HUMAN	K	344	ENSP00000373370:N344K	ENSP00000373370:N344K	N	-	3	2	FLG2	150595854	.	.	0.005000	0.12908	0.066000	0.16364	.	.	-1.315000	0.02297	0.650000	0.86243	AAC		0.502	FLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034018.5	NM_001014342		10	139	0	0	0	0.080935	0	10	139					C	152329230	G	C	152329230	3	2	93	1	0	0	0	0	1	0	0	0	5923	1252	44	5	6147	5	FLG2	1	152329230	Missense_Mutation	SNP	G	TCGA-EJ-7781-01A-11D-2114-08	118974591	152329230	96921391	5	4754											
ANKRD45	339416	broad.mit.edu	37	chr1	173593981	173593981	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atatcttccagttgttgtctCtgctcaaaaagctcattaat	11	16	5	9	0	4	0	2	0	2	0	6	0	5	0	1	0	2	4	1	0	4	5			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	9815ad1d-4855-4da4-839c-ffcf705347d3	g.chr1:173593981C>G	ENST00000333279.2	-	5	735	c.675G>C	c.(673-675)caG>caC	p.Q225H		NM_198493.2	NP_940895.1	Q5TZF3	ANR45_HUMAN	ankyrin repeat domain 45	241										NS(2)|endometrium(2)|large_intestine(4)|lung(3)|skin(1)	12						GTTGTTGTCTCTGCTCAAAAA	0.393																																						ENST00000333279.2																			0				NS(2)|endometrium(2)|large_intestine(4)|lung(3)|skin(1)	12						c.(673-675)caG>caC		ankyrin repeat domain 45							135	129	131					1																	173593981		2203	4300	6503	SO:0001583	missense	339416							g.chr1:173593981C>G		CCDS1309.1	1q25.1	2013-01-10			ENSG00000183831	ENSG00000183831		"Ankyrin repeat domain containing"	24786	protein-coding gene	gene with protein product	"cancer/testis antigen 117"						Standard	NM_198493		Approved	FLJ45235, CT117	uc001gja.1	Q5TZF3	OTTHUMG00000040546	ENST00000333279.2:c.675G>C	1.37:g.173593981C>G	ENSP00000331268:p.Gln225His						p.Q225H	NM_198493.2	NP_940895.1	Q5TZF3	ANR45_HUMAN			5	735	-			241					A1A4G2|Q6ZST1	Missense_Mutation	SNP	ENST00000333279.2	37	c.675G>C	CCDS1309.1	.	.	.	.	.	.	.	.	.	.	C	13.30	2.196159	0.38806	.	.	ENSG00000183831	ENST00000333279	T	0.15017	2.46	5.99	4.9	0.64082	.	0.000000	0.85682	D	0.000000	T	0.27765	0.0683	L	0.58669	1.825	0.41598	D	0.988838	D	0.89917	1.0	D	0.70716	0.97	T	0.00509	-1.1698	10	0.87932	D	0	-11.4662	13.0567	0.58984	0.0:0.9119:0.0:0.0881	.	241	Q5TZF3	ANR45_HUMAN	H	225	ENSP00000331268:Q225H	ENSP00000331268:Q225H	Q	-	3	2	ANKRD45	171860604	1.000000	0.71417	1.000000	0.80357	0.077000	0.17291	2.175000	0.42491	2.840000	0.97914	0.655000	0.94253	CAG		0.393	ANKRD45-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097580.2	NM_198493		9	48	0	0	0	0.047766	0	9	48					G	173593981	C	G	173593981	3	3	93	1	0	0	0	0	1	0	0	0	673	912	32	5	133	5	ANKRD45	1	173593981	Missense_Mutation	SNP	C	TCGA-EJ-7781-01A-11D-2114-08	21264751	173593981	75656640	6	4755											
REEP1	65055	broad.mit.edu	37	chr2	86459814	86459814	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccgtgtttgccgctggcccGcccagaccccggtggtgggg	2	7	17	15	4	0	1	0	0	0	1	0	1	0	1	6	5	1	2	6	5	0	1	rs144874997	byFrequency	TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	9815ad1d-4855-4da4-839c-ffcf705347d3	g.chr2:86459814G>A	ENST00000165698.5	-	6	672	c.529C>T	c.(529-531)Cgg>Tgg	p.R177W	REEP1_ENST00000540790.1_Missense_Mutation_p.R156W|REEP1_ENST00000541910.1_Silent_p.G98G|REEP1_ENST00000473407.1_5'Flank|REEP1_ENST00000538924.1_Missense_Mutation_p.R184W|REEP1_ENST00000535845.1_Missense_Mutation_p.R150W	NM_022912.2	NP_075063.1	Q9H902	REEP1_HUMAN	receptor accessory protein 1	177					cell death (GO:0008219)|endoplasmic reticulum tubular network organization (GO:0071786)|protein insertion into membrane (GO:0051205)|regulation of intracellular transport (GO:0032386)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrion (GO:0005739)	microtubule binding (GO:0008017)|olfactory receptor binding (GO:0031849)			breast(1)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	13						CCGCTGGCCCGCCCAGACCCC	0.637													G|||	6	0.00119808	0.0045	0	5008	,	,		16075	0		0	False		,,,				2504	0					ENST00000165698.5																			0				breast(1)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	13						c.(529-531)Cgg>Tgg		receptor accessory protein 1		G	TRP/ARG,TRP/ARG,TRP/ARG,	14,4392	21.2+/-45.6	0,14,2189	39	36	37		550,448,529,294	1.2	0.9	2	dbSNP_134	37	0,8600		0,0,4300	yes	missense,missense,missense,coding-synonymous	REEP1	NM_001164730.1,NM_001164731.1,NM_022912.2,NM_001164732.1	101,101,101,	0,14,6489	AA,AG,GG		0.0,0.3177,0.1076	probably-damaging,probably-damaging,probably-damaging,	184/209,150/175,177/202,98/144	86459814	14,12992	2203	4300	6503	SO:0001583	missense	65055				cell death|protein insertion into membrane	integral to membrane|mitochondrial membrane	olfactory receptor binding	g.chr2:86459814G>A	AK023172	CCDS1989.1, CCDS54372.1, CCDS54373.1, CCDS54374.1	2p11.2	2014-09-17	2006-02-07	2006-02-07	ENSG00000068615	ENSG00000068615		"Receptor accessory proteins"	25786	protein-coding gene	gene with protein product	"receptor expression enhancing protein 1"	609139	"chromosome 2 open reading frame 23"	C2orf23		16271481, 15550249	Standard	NM_022912		Approved	FLJ13110, SPG31	uc002srh.4	Q9H902	OTTHUMG00000130205	ENST00000165698.5:c.529C>T	2.37:g.86459814G>A	ENSP00000165698:p.Arg177Trp					REEP1_ENST00000541910.1_Silent_p.G98G|REEP1_ENST00000538924.1_Missense_Mutation_p.R184W|REEP1_ENST00000540790.1_Missense_Mutation_p.R156W|REEP1_ENST00000535845.1_Missense_Mutation_p.R150W	p.R177W	NM_022912.2	NP_075063.1	Q9H902	REEP1_HUMAN			6	672	-			177					B7Z4D7|B7Z4F2|B7Z5R9|D6W5M2|Q53TI0	Missense_Mutation	SNP	ENST00000165698.5	37	c.529C>T	CCDS1989.1	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	G	20.9	4.062459	0.76187	0.003177	0.0	ENSG00000068615	ENST00000165698;ENST00000538924;ENST00000535845;ENST00000540790;ENST00000453231	D;D;D;D;D	0.88509	-2.37;-2.39;-1.53;-1.53;-2.34	5.48	1.18	0.20946	.	3.018540	0.01355	N	0.012046	D	0.94026	0.8086	.	.	.	0.30415	N	0.778655	D;D;D	0.76494	0.999;0.999;0.999	P;D;P	0.63488	0.756;0.915;0.853	T	0.82049	-0.0650	9	0.66056	D	0.02	.	13.1717	0.59602	0.0:0.0:0.4584:0.5416	.	150;156;177	B7Z5R9;F5H7Z9;Q9H902	.;.;REEP1_HUMAN	W	177;184;150;156;184	ENSP00000165698:R177W;ENSP00000438346:R184W;ENSP00000437567:R150W;ENSP00000443831:R156W;ENSP00000392197:R184W	ENSP00000165698:R177W	R	-	1	2	REEP1	86313325	0.254000	0.23992	0.926000	0.36857	0.929000	0.56500	0.630000	0.24553	0.305000	0.22832	0.655000	0.94253	CGG		0.637	REEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252523.2	NM_022912		10	52	0	0	0	0.058154	0	10	52					A	86459814	G	A	86459814	3	1	93	1	0	0	0	0	1	0	0	0	13204	1086	38	1	145	1	REEP1	2	86459814	Missense_Mutation	SNP	G	TCGA-EJ-7781-01A-11D-2114-08		86459814	156739559	7	4756											
RNF103	7844	broad.mit.edu	37	chr2	86847496	86847496	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttgtgtcttccacaagctcaTagaagtgcatttcaccactg	10	13	7	11	0	3	1	2	0	1	1	4	1	4	1	2	0	2	2	2	0	3	4			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	9815ad1d-4855-4da4-839c-ffcf705347d3	g.chr2:86847496T>C	ENST00000237455.4	-	2	1291	c.323A>G	c.(322-324)tAt>tGt	p.Y108C	AC015971.2_ENST00000424788.1_RNA|RNF103-CHMP3_ENST00000604011.1_Missense_Mutation_p.Y30C|RNF103_ENST00000477307.1_5'UTR|AC015971.2_ENST00000426549.1_RNA|AC015971.2_ENST00000439077.1_RNA|CHMP3_ENST00000439940.2_Missense_Mutation_p.Y30C	NM_001198951.1|NM_005667.3	NP_001185880.1|NP_005658.1	O00237	RN103_HUMAN	ring finger protein 103	108					central nervous system development (GO:0007417)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|protein ubiquitination (GO:0016567)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(7)|skin(2)	25						CACAAGCTCATAGAAGTGCAT	0.403																																						ENST00000237455.4																			0				central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(7)|skin(2)	25						c.(322-324)tAt>tGt		ring finger protein 103							106	104	104					2																	86847496		2203	4300	6503	SO:0001583	missense	7844				central nervous system development|ER-associated protein catabolic process	endoplasmic reticulum membrane|integral to membrane	protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr2:86847496T>C	D76444	CCDS33237.1	2p11.2	2013-01-09	2003-05-14	2003-05-16	ENSG00000239305	ENSG00000239305		"RING-type (C3HC4) zinc fingers"	12859	protein-coding gene	gene with protein product		602507	"zinc finger protein 103 homolog (mouse)"	ZFP103		9070305	Standard	NM_005667		Approved	hkf-1, KF1	uc021vkg.1	O00237	OTTHUMG00000153197	ENST00000237455.4:c.323A>G	2.37:g.86847496T>C	ENSP00000237455:p.Tyr108Cys					RNF103_ENST00000477307.1_5'UTR|RNF103-CHMP3_ENST00000604011.1_Missense_Mutation_p.Y30C|CHMP3_ENST00000439940.2_Missense_Mutation_p.Y30C	p.Y108C	NM_001198951.1|NM_005667.3	NP_001185880.1|NP_005658.1	O00237	RN103_HUMAN			2	1291	-			108					A6NFV6|B2RAG4|Q53SU6|Q8IVB9	Missense_Mutation	SNP	ENST00000237455.4	37	c.323A>G	CCDS33237.1	.	.	.	.	.	.	.	.	.	.	T	25.0	4.587978	0.86851	.	.	ENSG00000115561;ENSG00000249884;ENSG00000239305	ENST00000439940;ENST00000440757;ENST00000237455	D;T;T	0.94650	-3.48;-1.41;0.77	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	D	0.96488	0.8854	L	0.60455	1.87	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.81914	0.993;0.995	D	0.97000	0.9728	10	0.87932	D	0	-15.8084	16.27	0.82612	0.0:0.0:0.0:1.0	.	30;108	Q9Y3E7-3;O00237	.;RN103_HUMAN	C	30;108;108	ENSP00000405575:Y30C;ENSP00000392995:Y108C;ENSP00000237455:Y108C	ENSP00000237455:Y108C	Y	-	2	0	RNF103;VPS24;RNF103-VPS24	86701007	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.396000	0.79891	2.248000	0.74166	0.533000	0.62120	TAT		0.403	RNF103-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330041.2	NM_005667		11	71	0	0	0	0.080935	0	11	71					C	86847496	T	C	86847496	3	2	93	1	0	0	0	0	1	0	0	0	13423	1406	49	4	1746	4	RNF103	2	86847496	Missense_Mutation	SNP	T	TCGA-EJ-7781-01A-11D-2114-08	387682	86847496	156351877	8	4757											
SAP130	79595	broad.mit.edu	37	chr2	128703100	128703100	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gacaggatactcctttctgaTtagctatttcctgcagcata	10	14	7	10	0	1	1	0	1	1	0	3	3	3	2	2	1	4	3	2	1	4	6			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	9815ad1d-4855-4da4-839c-ffcf705347d3	g.chr2:128703100T>C	ENST00000259235.3	-	18	2933	c.2804A>G	c.(2803-2805)aAt>aGt	p.N935S	SAP130_ENST00000259234.6_Missense_Mutation_p.N943S|SAP130_ENST00000357702.5_Missense_Mutation_p.N970S	NM_024545.3	NP_078821.2	Q9H0E3	SP130_HUMAN	Sin3A-associated protein, 130kDa	935	Interactions with SIN3A and HDAC1.				chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|STAGA complex (GO:0030914)	transcription coactivator activity (GO:0003713)			NS(4)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	45	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0771)		TCCTTTCTGATTAGCTATTTC	0.408																																						ENST00000357702.5																			0				NS(4)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	45						c.(2908-2910)aAt>aGt		Sin3A-associated protein, 130kDa							132	121	125					2																	128703100		2203	4300	6503	SO:0001583	missense	79595				histone H3 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	STAGA complex	transcription coactivator activity	g.chr2:128703100T>C	BC017453	CCDS2153.1, CCDS54397.1	2q14.3	2008-02-05	2006-02-02		ENSG00000136715	ENSG00000136715			29813	protein-coding gene	gene with protein product		609697	"sin3A-associated protein, 130kDa"			11230166, 12724404	Standard	NM_001145928		Approved	FLJ12761	uc010fmd.2	Q9H0E3	OTTHUMG00000131571	ENST00000259235.3:c.2804A>G	2.37:g.128703100T>C	ENSP00000259235:p.Asn935Ser					SAP130_ENST00000259234.6_Missense_Mutation_p.N943S|SAP130_ENST00000259235.3_Missense_Mutation_p.N935S	p.N970S	NM_001145928.1	NP_001139400.1	Q9H0E3	SP130_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0771)	19	3040	-	Colorectal(110;0.1)		935			Interactions with SIN3A and HDAC1.		B7ZLM3|C9K0X9|Q4ZFV4|Q53T46|Q8WVW4|Q9H9G8	Missense_Mutation	SNP	ENST00000259235.3	37	c.2909A>G	CCDS2153.1	.	.	.	.	.	.	.	.	.	.	.	15.33	2.802370	0.50315	.	.	ENSG00000136715	ENST00000357702;ENST00000259235;ENST00000259234	.	.	.	6.07	4.92	0.64577	.	0.082890	0.85682	N	0.000000	T	0.47414	0.1444	L	0.34521	1.04	0.58432	D	0.999995	B;B;B;B	0.19583	0.037;0.037;0.037;0.037	B;B;B;B	0.18561	0.015;0.015;0.022;0.022	T	0.42949	-0.9421	9	0.87932	D	0	-18.4316	12.1622	0.54110	0.0:0.0664:0.0:0.9336	.	970;935;500;572	B7ZLM3;Q9H0E3;Q9H0E3-2;B3KRT9	.;SP130_HUMAN;.;.	S	970;935;943	.	ENSP00000259234:N943S	N	-	2	0	SAP130	128419570	1.000000	0.71417	0.998000	0.56505	0.993000	0.82548	4.685000	0.61693	1.117000	0.41842	0.533000	0.62120	AAT		0.408	SAP130-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254436.3	NM_024545		4	68	0	0	0	0.014758	0	4	68					C	128703100	T	C	128703100	3	2	93	1	0	0	0	0	1	0	0	0	13831	1493	52	4	354	4	SAP130	2	128703100	Missense_Mutation	SNP	T	TCGA-EJ-7781-01A-11D-2114-08	41855604	128703100	114496273	9	4758											
UBXN4	23190	broad.mit.edu	37	chr2	136536538	136536540	+	In_Frame_Del	DEL	TAA	TAA	-																															actgttggcaacacttacggTaatttttcgttagcaaccat																										TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	9815ad1d-4855-4da4-839c-ffcf705347d3	g.chr2:136536538_136536540delTAA	ENST00000272638.9	+	11	1385_1387	c.1074_1076delTAA	c.(1072-1077)ggtaat>ggt	p.N359del	UBXN4_ENST00000490163.1_3'UTR	NM_014607.3	NP_055422.1	Q92575	UBXN4_HUMAN	UBX domain protein 4	359	UBX. {ECO:0000255|PROSITE- ProRule:PRU00215}.				response to unfolded protein (GO:0006986)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleus (GO:0005634)				NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	24						ACACTTACGGTAATTTTTCGTTA	0.35																																						ENST00000272638.9																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	24						c.(1072-1077)ggt>gg		UBX domain protein 4																																				SO:0001651	inframe_deletion	23190				response to unfolded protein	endoplasmic reticulum membrane|nuclear envelope	protein binding	g.chr2:136536538_136536540delTAA	D87684	CCDS42761.1	2q21.3-q22.1	2008-07-25	2008-07-25	2008-07-25	ENSG00000144224	ENSG00000144224		"UBX domain containing"	14860	protein-coding gene	gene with protein product	"erasin"	611216	"UBX domain-containing 2", "UBX domain containing 2"	UBXDC1, UBXD2		16968747	Standard	NM_014607		Approved	KIAA0242	uc002tur.3	Q92575	OTTHUMG00000153577	ENST00000272638.9:c.1074_1076delTAA	2.37:g.136536538_136536540delTAA	ENSP00000272638:p.Asn359del					UBXN4_ENST00000490163.1_3'UTR	p.GN358del	NM_014607.3	NP_055422.1	Q92575	UBXN4_HUMAN			11	1385_1387	+			358			UBX.		A8K9W4|Q4ZG56|Q8IYM5	In_Frame_Del	DEL	ENST00000272638.9	37	c.1074_1076delTAA	CCDS42761.1																																																																																				0.35	UBXN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331696.1	NM_014607		9	81						9	81	---	---	---	---	-	136536540	TAA	-	136536538	7	5	93	1	0	1	0	1	0	0	0	0	16913	1625	57	0	1116	0	UBXN4	2	136536538	In_Frame_Del	DEL	TAA	TCGA-EJ-7781-01A-11D-2114-08	7833438	136536538	106662835	10	4759											
THSD7B	80731	broad.mit.edu	37	chr2	137814399	137814399	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccccgggattgtgtagtatcTgagttcttaccatggtccaa	8	13	10	10	1	2	1	0	1	2	0	3	2	3	2	4	2	1	3	4	2	4	5			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	9815ad1d-4855-4da4-839c-ffcf705347d3	g.chr2:137814399T>G	ENST00000409968.1	+	3	727	c.549T>G	c.(547-549)tcT>tcG	p.S183S	THSD7B_ENST00000543459.1_Silent_p.S42S|THSD7B_ENST00000413152.2_Silent_p.S152S|THSD7B_ENST00000272643.3_Silent_p.S183S			Q9C0I4	THS7B_HUMAN	thrombospondin, type I, domain containing 7B	183	TSP type-1 3. {ECO:0000255|PROSITE- ProRule:PRU00210}.					integral component of membrane (GO:0016021)				NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		GTGTAGTATCTGAGTTCTTAC	0.493																																						ENST00000409968.1																			0				NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134						c.(547-549)tcT>tcG		thrombospondin, type I, domain containing 7B							202	201	201					2																	137814399		1983	4161	6144	SO:0001819	synonymous_variant	80731							g.chr2:137814399T>G			2q22.1	2006-11-24			ENSG00000144229	ENSG00000144229			29348	protein-coding gene	gene with protein product						11214970	Standard	NM_001080427		Approved	KIAA1679	uc002tva.1	Q9C0I4	OTTHUMG00000153590	ENST00000409968.1:c.549T>G	2.37:g.137814399T>G						THSD7B_ENST00000272643.3_Silent_p.S183S|THSD7B_ENST00000543459.1_Silent_p.S42S|THSD7B_ENST00000413152.2_Silent_p.S152S	p.S183S						BRCA - Breast invasive adenocarcinoma(221;0.19)	3	727	+									Silent	SNP	ENST00000409968.1	37	c.549T>G																																																																																					0.493	THSD7B-001	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000331769.2	XM_046570.9		13	246	0	0	0	0.132662	0	13	246					G	137814399	T	G	137814399	2	3	93	1	0	0	0	0	0	0	0	1	15877	1567	55	5		5	THSD7B	2	137814399	Silent	SNP	T	TCGA-EJ-7781-01A-11D-2114-08	1277861	137814399	105384974	11	4760											
SCN1A	6323	broad.mit.edu	37	chr2	166859166	166859166	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agaatttgccagcaaacaaaTttacgcccatgatgctgaaa	16	9	7	9	1	0	3	0	2	0	1	0	3	0	3	2	0	5	2	2	0	5	3			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	9815ad1d-4855-4da4-839c-ffcf705347d3	g.chr2:166859166T>C	ENST00000303395.4	-	21	4099	c.4100A>G	c.(4099-4101)aAt>aGt	p.N1367S	SCN1A_ENST00000423058.2_Missense_Mutation_p.N1367S|AC010127.3_ENST00000595647.1_RNA|AC010127.3_ENST00000597623.1_RNA|SCN1A_ENST00000375405.3_Missense_Mutation_p.N1356S|SCN1A_ENST00000409050.1_Missense_Mutation_p.N1339S			P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	1367			N -> K (in EIEE6; dbSNP:rs121918760). {ECO:0000269|PubMed:20522430}.		adult walking behavior (GO:0007628)|membrane depolarization during action potential (GO:0086010)|neuromuscular process controlling posture (GO:0050884)|neuronal action potential (GO:0019228)|neuronal action potential propagation (GO:0019227)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon initial segment (GO:0043194)|intercalated disc (GO:0014704)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)|Z disc (GO:0030018)	voltage-gated sodium channel activity (GO:0005248)			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Dronedarone(DB04855)|Nitrazepam(DB01595)|Permethrin(DB04930)|Phenacemide(DB01121)|Phenazopyridine(DB01438)|Phenytoin(DB00252)|Topiramate(DB00273)|Valproic Acid(DB00313)|Zonisamide(DB00909)	AGCAAACAAATTTACGCCCAT	0.388																																						ENST00000423058.2																			0				NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200						c.(4099-4101)aAt>aGt		sodium channel, voltage-gated, type I, alpha subunit	Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)						96	95	95					2																	166859166		2203	4299	6502	SO:0001583	missense	6323					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:166859166T>C	AB093548	CCDS33316.1, CCDS54413.1, CCDS54414.1	2q24.3	2014-09-17	2007-01-23		ENSG00000144285	ENSG00000144285		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10585	protein-coding gene	gene with protein product		182389	"febrile convulsions 3"	SCN1, FEB3		8062593, 16382098, 11823106	Standard	NM_006920		Approved	Nav1.1, GEFSP2, HBSCI, NAC1, SMEI	uc021vsb.1	P35498	OTTHUMG00000044173	ENST00000303395.4:c.4100A>G	2.37:g.166859166T>C	ENSP00000303540:p.Asn1367Ser					SCN1A_ENST00000375405.3_Missense_Mutation_p.N1356S|SCN1A_ENST00000303395.4_Missense_Mutation_p.N1367S|SCN1A_ENST00000409050.1_Missense_Mutation_p.N1339S|AC010127.3_ENST00000597623.1_RNA|AC010127.3_ENST00000595647.1_RNA	p.N1367S	NM_001165963.1|NM_001202435.1	NP_001159435.1|NP_001189364.1	P35498	SCN1A_HUMAN			21	4117	-			1367		N -> K (in SMEI; dbSNP:rs121918760).			E9PG49|Q16172|Q585T7|Q8IUJ6|Q96LA3|Q9C008	Missense_Mutation	SNP	ENST00000303395.4	37	c.4100A>G	CCDS54413.1	.	.	.	.	.	.	.	.	.	.	T	22.1	4.238904	0.79800	.	.	ENSG00000144285	ENST00000423058;ENST00000303395;ENST00000375405;ENST00000409050	D;D;D;D	0.98381	-4.9;-4.9;-4.9;-4.9	5.54	5.54	0.83059	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.98807	0.9598	M	0.78801	2.425	0.58432	D	0.999998	D;D;D	0.69078	0.984;0.997;0.972	P;D;P	0.80764	0.801;0.994;0.874	D	0.99837	1.1058	10	0.66056	D	0.02	.	15.9597	0.79918	0.0:0.0:0.0:1.0	.	1356;1339;1367	P35498-2;E9PG49;P35498	.;.;SCN1A_HUMAN	S	1367;1367;1356;1339	ENSP00000407030:N1367S;ENSP00000303540:N1367S;ENSP00000364554:N1356S;ENSP00000386312:N1339S	ENSP00000303540:N1367S	N	-	2	0	SCN1A	166567412	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.994000	0.88315	2.226000	0.72624	0.482000	0.46254	AAT		0.388	SCN1A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102661.1	NM_006920		6	68	0	0	0	0.02938	0	6	68					C	166859166	T	C	166859166	3	2	93	1	0	0	0	0	1	0	0	0	13914	1493	52	4	1953	4	SCN1A	2	166859166	Missense_Mutation	SNP	T	TCGA-EJ-7781-01A-11D-2114-08	29044767	166859166	76340207	12	4761											
SCN1A	6323	broad.mit.edu	37	chr2	166900370	166900370	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgactcaggttgctgttgcGtctctctccgtgtcgtcggg	2	14	13	12	4	3	1	1	1	2	0	7	1	3	1	1	2	2	3	1	2	0	2			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	9815ad1d-4855-4da4-839c-ffcf705347d3	g.chr2:166900370G>A	ENST00000303395.4	-	11	1851	c.1852C>T	c.(1852-1854)Cgc>Tgc	p.R618C	AC010127.3_ENST00000599041.1_RNA|AC010127.3_ENST00000595268.1_RNA|SCN1A_ENST00000423058.2_Missense_Mutation_p.R618C|AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000375405.3_Missense_Mutation_p.R618C|SCN1A_ENST00000409050.1_Missense_Mutation_p.R618C			P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	618					adult walking behavior (GO:0007628)|membrane depolarization during action potential (GO:0086010)|neuromuscular process controlling posture (GO:0050884)|neuronal action potential (GO:0019228)|neuronal action potential propagation (GO:0019227)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon initial segment (GO:0043194)|intercalated disc (GO:0014704)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)|Z disc (GO:0030018)	voltage-gated sodium channel activity (GO:0005248)			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Dronedarone(DB04855)|Nitrazepam(DB01595)|Permethrin(DB04930)|Phenacemide(DB01121)|Phenazopyridine(DB01438)|Phenytoin(DB00252)|Topiramate(DB00273)|Valproic Acid(DB00313)|Zonisamide(DB00909)	TTGCTGTTGCGTCTCTCTCCG	0.537																																						ENST00000423058.2																			0				NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200						c.(1852-1854)Cgc>Tgc		sodium channel, voltage-gated, type I, alpha subunit	Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)						182	147	159					2																	166900370		2203	4300	6503	SO:0001583	missense	6323					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:166900370G>A	AB093548	CCDS33316.1, CCDS54413.1, CCDS54414.1	2q24.3	2014-09-17	2007-01-23		ENSG00000144285	ENSG00000144285		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10585	protein-coding gene	gene with protein product		182389	"febrile convulsions 3"	SCN1, FEB3		8062593, 16382098, 11823106	Standard	NM_006920		Approved	Nav1.1, GEFSP2, HBSCI, NAC1, SMEI	uc021vsb.1	P35498	OTTHUMG00000044173	ENST00000303395.4:c.1852C>T	2.37:g.166900370G>A	ENSP00000303540:p.Arg618Cys					SCN1A_ENST00000375405.3_Missense_Mutation_p.R618C|SCN1A_ENST00000303395.4_Missense_Mutation_p.R618C|SCN1A_ENST00000409050.1_Missense_Mutation_p.R618C|AC010127.3_ENST00000599041.1_RNA|AC010127.3_ENST00000595647.1_RNA|AC010127.3_ENST00000595268.1_RNA	p.R618C	NM_001165963.1|NM_001202435.1	NP_001159435.1|NP_001189364.1	P35498	SCN1A_HUMAN			11	1869	-			618					E9PG49|Q16172|Q585T7|Q8IUJ6|Q96LA3|Q9C008	Missense_Mutation	SNP	ENST00000303395.4	37	c.1852C>T	CCDS54413.1	.	.	.	.	.	.	.	.	.	.	G	18.49	3.635964	0.67130	.	.	ENSG00000144285	ENST00000423058;ENST00000303395;ENST00000375405;ENST00000409050	D;D;D;D	0.93547	-3.24;-3.24;-3.24;-3.24	5.23	5.23	0.72850	Domain of unknown function DUF3451 (1);	0.000000	0.64402	D	0.000003	D	0.97105	0.9054	M	0.91300	3.195	0.80722	D	1	D;D;D	0.89917	0.998;1.0;1.0	P;P;D	0.73380	0.809;0.83;0.98	D	0.97750	1.0214	10	0.87932	D	0	.	13.7383	0.62831	0.0:0.0:0.8461:0.1539	.	618;618;618	P35498-2;E9PG49;P35498	.;.;SCN1A_HUMAN	C	618	ENSP00000407030:R618C;ENSP00000303540:R618C;ENSP00000364554:R618C;ENSP00000386312:R618C	ENSP00000303540:R618C	R	-	1	0	SCN1A	166608616	1.000000	0.71417	0.998000	0.56505	0.892000	0.51952	6.557000	0.73937	2.444000	0.82710	0.561000	0.74099	CGC		0.537	SCN1A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102661.1	NM_006920		24	59	0	0	0	0.069288	0	24	59					A	166900370	G	A	166900370	3	1	93	1	0	0	0	0	1	0	0	0	13914	1145	40	1	4241	1	SCN1A	2	166900370	Missense_Mutation	SNP	G	TCGA-EJ-7781-01A-11D-2114-08	41204	166900370	76299003	13	4762											
TTN	7273	broad.mit.edu	37	chr2	179605764	179605764	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgcaatttcctgctctgagtCaagtgcttcaactgcgggac	8	12	10	11	1	3	1	2	1	1	0	4	2	4	2	1	1	5	3	1	1	3	2			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	9815ad1d-4855-4da4-839c-ffcf705347d3	g.chr2:179605764C>G	ENST00000591111.1	-	46	11469	c.11245G>C	c.(11245-11247)Gac>Cac	p.D3749H	TTN_ENST00000359218.5_Missense_Mutation_p.D3828H|TTN_ENST00000460472.2_Missense_Mutation_p.D3703H|TTN-AS1_ENST00000582847.1_RNA|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.D4066H|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.D3895H			Q8WZ42	TITIN_HUMAN	titin	33913					adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGCTCTGAGTCAAGTGCTTCA	0.438																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(12196-12198)Gac>Cac		titin							155	150	151					2																	179605764		1851	4106	5957	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179605764C>G	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.11245G>C	2.37:g.179605764C>G	ENSP00000465570:p.Asp3749His					TTN-AS1_ENST00000582847.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.D3703H|TTN_ENST00000591111.1_Missense_Mutation_p.D3749H|TTN_ENST00000359218.5_Missense_Mutation_p.D3828H|TTN_ENST00000342992.6_Intron|TTN_ENST00000342175.6_Missense_Mutation_p.D3895H|TTN-AS1_ENST00000590773.1_RNA	p.D4066H	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		48	12420	-			3749					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.12196G>C		.	.	.	.	.	.	.	.	.	.	C	2.663	-0.279289	0.05642	.	.	ENSG00000155657	ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T	0.63580	0.06;-0.05;-0.02	5.61	2.68	0.31781	.	.	.	.	.	T	0.46560	0.1399	L	0.27053	0.805	0.09310	N	1	B;B;B	0.22480	0.07;0.07;0.07	B;B;B	0.28638	0.05;0.05;0.092	T	0.44711	-0.9310	9	0.87932	D	0	.	3.7297	0.08488	0.1382:0.5794:0.1338:0.1486	.	3703;3828;3895	D3DPF9;E7EQE6;E7ET18	.;.;.	H	3703;3895;3828;3703	ENSP00000434586:D3703H;ENSP00000340554:D3895H;ENSP00000352154:D3828H	ENSP00000340554:D3895H	D	-	1	0	TTN	179314009	0.000000	0.05858	0.036000	0.18154	0.076000	0.17211	0.329000	0.19698	0.843000	0.35070	-0.150000	0.13652	GAC		0.438	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		48	132	0	0	0	0.139131	0	48	132					G	179605764	C	G	179605764	3	3	93	1	0	0	0	0	1	0	0	0	16732	826	29	5	92593	5	TTN	2	179605764	Missense_Mutation	SNP	C	TCGA-EJ-7781-01A-11D-2114-08	12705394	179605764	63593609	14	4763											
KBTBD12	166348	broad.mit.edu	37	chr3	127642852	127642852	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttcatctcatctcccaagtaCggagagggtttaggaactgt	10	12	10	9	1	3	1	2	0	2	1	5	3	3	2	1	3	2	2	1	3	4	4			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	9815ad1d-4855-4da4-839c-ffcf705347d3	g.chr3:127642852C>T	ENST00000405109.1	+	2	1415	c.948C>T	c.(946-948)taC>taT	p.Y316Y	KBTBD12_ENST00000343941.4_Intron|KBTBD12_ENST00000407609.3_Intron|KBTBD12_ENST00000405256.1_Silent_p.Y316Y			Q3ZCT8	KBTBC_HUMAN	kelch repeat and BTB (POZ) domain containing 12	316								p.Y316Y(2)		endometrium(1)|large_intestine(6)|lung(5)|ovary(1)	13						CTCCCAAGTACGGAGAGGGTT	0.408																																						ENST00000405109.1																			2	Substitution - coding silent(2)	p.Y316Y(2)	large_intestine(2)	endometrium(1)|large_intestine(6)|lung(5)|ovary(1)	13						c.(946-948)taC>taT		kelch repeat and BTB (POZ) domain containing 12							135	129	131					3																	127642852		1908	4108	6016	SO:0001819	synonymous_variant	166348							g.chr3:127642852C>T		CCDS33848.2	3q21.3	2013-01-08	2009-10-01	2009-10-01	ENSG00000187715	ENSG00000187715		"BTB/POZ domain containing"	25731	protein-coding gene	gene with protein product			"kelch domain containing 6"	KLHDC6			Standard	NM_207335		Approved	FLJ46299	uc010hsr.3	Q3ZCT8	OTTHUMG00000150508	ENST00000405109.1:c.948C>T	3.37:g.127642852C>T						KBTBD12_ENST00000407609.3_Intron|KBTBD12_ENST00000343941.4_Intron|KBTBD12_ENST00000405256.1_Silent_p.Y316Y	p.Y316Y			Q3ZCT8	KBTBC_HUMAN			2	1415	+			316					B5MCC6|Q6ZRK1	Silent	SNP	ENST00000405109.1	37	c.948C>T	CCDS33848.2																																																																																				0.408	KBTBD12-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318682.1	NM_207335		6	74	0	0	0	0.021553	0	6	74					T	127642852	C	T	127642852	2	4	93	1	0	0	0	0	0	0	0	1	7991	547	19	1		1	KBTBD12	3	127642852	Silent	SNP	C	TCGA-EJ-7781-01A-11D-2114-08		127642852	70379578	15	4764											
EXOC1	55763	broad.mit.edu	37	chr4	56744213	56744213	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aaagagtacagattatggaaAatatgaaggactaacaaagg	21	7	10	3	0	0	3	0	1	0	2	0	5	0	5	0	3	2	1	0	3	9	4			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	9815ad1d-4855-4da4-839c-ffcf705347d3	g.chr4:56744213A>G	ENST00000381295.2	+	9	1553	c.1205A>G	c.(1204-1206)aAa>aGa	p.K402R	EXOC1_ENST00000349598.6_Missense_Mutation_p.K402R|EXOC1_ENST00000346134.7_Missense_Mutation_p.K402R	NM_001024924.1	NP_001020095.1	Q9NV70	EXOC1_HUMAN	exocyst complex component 1	402					cellular protein metabolic process (GO:0044267)|exocytosis (GO:0006887)|membrane organization (GO:0061024)|protein transport (GO:0015031)	exocyst (GO:0000145)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	35	Glioma(25;0.08)|all_neural(26;0.101)					GATTATGGAAAATATGAAGGA	0.383																																						ENST00000381295.2																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	35						c.(1204-1206)aAa>aGa		exocyst complex component 1							140	135	137					4																	56744213		2203	4300	6503	SO:0001583	missense	55763				exocytosis|protein transport	exocyst	protein binding	g.chr4:56744213A>G	AK027047	CCDS3502.1, CCDS3503.1	4q12	2013-01-22	2005-11-01	2005-11-01	ENSG00000090989	ENSG00000090989			30380	protein-coding gene	gene with protein product		607879	"SEC3-like 1 (S. cerevisiae)"	SEC3L1		11042152, 11406615	Standard	XM_005265747		Approved	SEC3, FLJ10893, BM-102, Sec3p	uc003hbf.1	Q9NV70	OTTHUMG00000102165	ENST00000381295.2:c.1205A>G	4.37:g.56744213A>G	ENSP00000370695:p.Lys402Arg					EXOC1_ENST00000346134.7_Missense_Mutation_p.K402R|EXOC1_ENST00000349598.6_Missense_Mutation_p.K402R	p.K402R	NM_001024924.1	NP_001020095.1	Q9NV70	EXOC1_HUMAN			9	1553	+	Glioma(25;0.08)|all_neural(26;0.101)		402					Q504V4|Q8WUE7|Q96T15|Q9NZE4	Missense_Mutation	SNP	ENST00000381295.2	37	c.1205A>G	CCDS3502.1	.	.	.	.	.	.	.	.	.	.	A	9.579	1.122956	0.20959	.	.	ENSG00000090989	ENST00000381295;ENST00000346134;ENST00000349598	.	.	.	5.65	4.44	0.53790	.	0.137085	0.64402	D	0.000004	T	0.28101	0.0693	N	0.10874	0.06	0.39160	D	0.962387	B;B	0.06786	0.001;0.001	B;B	0.10450	0.001;0.005	T	0.08827	-1.0703	9	0.15499	T	0.54	.	6.4834	0.22075	0.7887:0.0:0.0721:0.1392	.	402;402	Q9NV70-2;Q9NV70	.;EXOC1_HUMAN	R	402	.	ENSP00000326514:K402R	K	+	2	0	EXOC1	56438970	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.869000	0.63028	0.941000	0.37499	0.455000	0.32223	AAA		0.383	EXOC1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361799.1	NM_018261		25	66	0	0	0	0.108266	0	25	66					G	56744213	A	G	56744213	3	3	93	1	0	0	0	0	1	0	0	0	5301	14	1	4	1235	4	EXOC1	4	56744213	Missense_Mutation	SNP	A	TCGA-EJ-7781-01A-11D-2114-08		56744213	134410063	16	4765											
PDZD2	23037	broad.mit.edu	37	chr5	32091103	32091104	+	Frame_Shift_Ins	INS	-	-	C																															caaaactgagctggagatcaINScccccaggaggtcacctggc																										TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	9815ad1d-4855-4da4-839c-ffcf705347d3	g.chr5:32091103_32091104insC	ENST00000438447.1	+	20	7937_7938	c.7549_7550insC	c.(7549-7551)accfs	p.T2517fs	PDZD2_ENST00000282493.3_Frame_Shift_Ins_p.T2517fs			O15018	PDZD2_HUMAN	PDZ domain containing 2	2517					cell adhesion (GO:0007155)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|nucleus (GO:0005634)				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						GCTGGAGATCACCCCCAGGAGG	0.614																																						ENST00000438447.1																			0				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						c.(7549-7551)cccfs		PDZ domain containing 2																																				SO:0001589	frameshift_variant	23037				cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus		g.chr5:32091103_32091104insC	AB002298	CCDS34137.1	5p14.1	2008-02-05	2006-01-24	2006-01-24		ENSG00000133401			18486	protein-coding gene	gene with protein product		610697	"PDZ domain containing 3"	PDZK3		9205841	Standard	XM_005248271		Approved	KIAA0300	uc003jhm.3	O15018		ENST00000438447.1:c.7554dupC	5.37:g.32091108_32091108dupC	ENSP00000402033:p.Thr2517fs					PDZD2_ENST00000282493.3_Frame_Shift_Ins_p.P2517fs	p.P2517fs			O15018	PDZD2_HUMAN			20	7937_7938	+			2517					Q9BXD4	Frame_Shift_Ins	INS	ENST00000438447.1	37	c.7549_7550insC	CCDS34137.1																																																																																				0.614	PDZD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366608.1			9	93						9	93	---	---	---	---	C	32091104	-	C	32091103	7	5	93	1	0	1	1	0	0	0	0	0	11701	159	6	0	7623	0	PDZD2	5	32091103	Frame_Shift_Ins	INS	-	TCGA-EJ-7781-01A-11D-2114-08		32091103	148824157	17	4766											
PCDHA5	56143	broad.mit.edu	37	chr5	140202764	140202764	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcgtgaaggagaacaacccGccaggctgccacatcttcac	11	7	9	14	2	2	2	1	1	1	1	3	3	2	2	3	2	3	1	3	2	3	2	rs17844294		TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	9815ad1d-4855-4da4-839c-ffcf705347d3	g.chr5:140202764G>A	ENST00000529859.1	+	1	1404	c.1404G>A	c.(1402-1404)ccG>ccA	p.P468P	PCDHA5_ENST00000378126.3_Silent_p.P468P|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Silent_p.P468P	NM_018908.2	NP_061731.1	Q9Y5H7	PCDA5_HUMAN	protocadherin alpha 5	468	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(3)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGAACAACCCGCCAGGCTGCC	0.677													.|||	1	0.000199681	8e-04	0	5008	,	,		17929	0		0	False		,,,				2504	0					ENST00000529859.1																			0				NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(3)	60						c.(1402-1404)ccG>ccA									69	73	72					5																	140202764		2202	4299	6501	SO:0001819	synonymous_variant	0							g.chr5:140202764G>A	AF152483	CCDS54917.1	5q31	2010-11-26				ENSG00000204965		"Cadherins / Protocadherins : Clustered"	8671	other	complex locus constituent	"ortholog of mouse CNR6", "KIAA0345-like 9"	606311		CNRS6		10380929, 10662547	Standard	NM_018908		Approved	CNR6, CRNR6, CNRN6, PCDH-ALPHA5		Q9Y5H7		ENST00000529859.1:c.1404G>A	5.37:g.140202764G>A						PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529619.1_Silent_p.P468P|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000378126.3_Silent_p.P468P	p.P468P	NM_018908.2	NP_061731.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1404	+								O75284|Q8N4R3	Silent	SNP	ENST00000529859.1	37	c.1404G>A	CCDS54917.1																																																																																				0.677	PCDHA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372883.2	NM_018908		26	125	0	0	0	0.0918	0	26	125					A	140202764	G	A	140202764	2	1	93	1	0	0	0	0	0	0	0	1	11527	1074	38	1		1	PCDHA5	5	140202764	Silent	SNP	G	TCGA-EJ-7781-01A-11D-2114-08	108111661	140202764	40712496	18	4767											
PCDHA7	56141	broad.mit.edu	37	chr5	140214180	140214180	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgggcggtgtgcaaattccGtggggatcttctggaggtaa	7	10	16	8	3	2	0	0	0	2	0	3	2	3	2	2	6	1	2	2	6	2	3			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	9815ad1d-4855-4da4-839c-ffcf705347d3	g.chr5:140214180G>A	ENST00000525929.1	+	1	212	c.212G>A	c.(211-213)cGt>cAt	p.R71H	PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA7_ENST00000378125.3_Missense_Mutation_p.R71H|PCDHA5_ENST00000529859.1_Intron	NM_018910.2	NP_061733.1	Q9UN72	PCDA7_HUMAN	protocadherin alpha 7	71	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGCAAATTCCGTGGGGATCTT	0.617																																					NSCLC(160;258 2013 5070 22440 28951)	ENST00000525929.1																			0				NS(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63						c.(211-213)cGt>cAt									102	121	115					5																	140214180		2203	4300	6503	SO:0001583	missense	0							g.chr5:140214180G>A	AF152485	CCDS54918.1	5q31	2010-11-26				ENSG00000204963		"Cadherins / Protocadherins : Clustered"	8673	other	complex locus constituent	"KIAA0345-like 7", "ortholog to mouse CNR4"	606313		CNRS4		10380929, 10662547	Standard	NM_018910		Approved	CNR4, CRNR4		Q9UN72		ENST00000525929.1:c.212G>A	5.37:g.140214180G>A	ENSP00000436426:p.Arg71His					PCDHA1_ENST00000504120.2_Intron|PCDHA7_ENST00000378125.3_Missense_Mutation_p.R71H|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron	p.R71H	NM_018910.2	NP_061733.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	212	+								O75282	Missense_Mutation	SNP	ENST00000525929.1	37	c.212G>A	CCDS54918.1	.	.	.	.	.	.	.	.	.	.	G	2.926	-0.222223	0.06061	.	.	ENSG00000204963	ENST00000525929;ENST00000378125	T;T	0.29397	1.57;1.57	4.17	2.33	0.28932	Cadherin, N-terminal (1);Cadherin (2);Cadherin-like (1);	0.270973	0.18904	U	0.127960	T	0.19765	0.0475	L	0.41492	1.28	0.09310	N	1	B;B	0.18166	0.008;0.026	B;B	0.12837	0.004;0.008	T	0.21724	-1.0237	10	0.21014	T	0.42	.	4.8694	0.13625	0.2551:0.1576:0.5873:0.0	.	71;71	Q9UN72-2;Q9UN72	.;PCDA7_HUMAN	H	71	ENSP00000436426:R71H;ENSP00000367365:R71H	ENSP00000367365:R71H	R	+	2	0	PCDHA7	140194364	0.000000	0.05858	0.306000	0.25113	0.377000	0.30045	-0.075000	0.11431	0.321000	0.23259	0.449000	0.29647	CGT		0.617	PCDHA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372887.2	NM_018910		15	247	0	0	0	0.146539	0	15	247					A	140214180	G	A	140214180	3	1	93	1	0	0	0	0	1	0	0	0	11529	1145	40	1	214	1	PCDHA7	5	140214180	Missense_Mutation	SNP	G	TCGA-EJ-7781-01A-11D-2114-08	11416	140214180	40701080	19	4768											
PCDHGA2	56113	broad.mit.edu	37	chr5	140720528	140720528	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtcacgctcaccgtggccGtggccgacaggatccccgac	6	6	12	17	5	2	0	2	0	0	0	3	3	3	1	5	3	0	1	5	3	0	0			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	9815ad1d-4855-4da4-839c-ffcf705347d3	g.chr5:140720528G>A	ENST00000394576.2	+	1	1990	c.1990G>A	c.(1990-1992)Gtg>Atg	p.V664M	PCDHGA1_ENST00000517417.1_Intron	NM_018915.2	NP_061738.1	Q9Y5H1	PCDG2_HUMAN	protocadherin gamma subfamily A, 2	664	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CACCGTGGCCGTGGCCGACAG	0.677																																						ENST00000394576.2																			0				breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77						c.(1990-1992)Gtg>Atg									33	42	39					5																	140720528		2198	4281	6479	SO:0001583	missense	0							g.chr5:140720528G>A	AF152508	CCDS47289.1	5q31	2011-03-28			ENSG00000081853	ENSG00000081853		"Cadherins / Protocadherins : Clustered"	8700	other	protocadherin		606289				10380929	Standard	NM_018915		Approved	PCDH-GAMMA-A2		Q9Y5H1	OTTHUMG00000163679	ENST00000394576.2:c.1990G>A	5.37:g.140720528G>A	ENSP00000378077:p.Val664Met					PCDHGA1_ENST00000517417.1_Intron	p.V664M	NM_018915.2	NP_061738.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1990	+								Q52LL6|Q9Y5D5	Missense_Mutation	SNP	ENST00000394576.2	37	c.1990G>A	CCDS47289.1	.	.	.	.	.	.	.	.	.	.	.	10.06	1.246869	0.22796	.	.	ENSG00000081853	ENST00000394576	T	0.68181	-0.31	5.14	0.218	0.15270	Cadherin (4);Cadherin-like (1);	0.553031	0.13737	U	0.366252	T	0.76463	0.3991	M	0.94063	3.49	0.09310	N	0.999992	P;P	0.52463	0.889;0.953	B;P	0.50192	0.306;0.634	T	0.67894	-0.5552	10	0.72032	D	0.01	.	6.4824	0.22069	0.4454:0.1202:0.4344:0.0	.	664;664	Q9Y5H1-2;Q9Y5H1	.;PCDG2_HUMAN	M	664	ENSP00000378077:V664M	ENSP00000378077:V664M	V	+	1	0	PCDHGA2	140700712	0.000000	0.05858	0.001000	0.08648	0.065000	0.16274	-1.818000	0.01717	-0.174000	0.10743	0.485000	0.47835	GTG		0.677	PCDHGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374738.1	NM_018915		12	115	0	0	0	0.080935	0	12	115					A	140720528	G	A	140720528	3	1	93	1	0	0	0	0	1	0	0	0	11554	1145	40	1	1992	1	PCDHGA2	5	140720528	Missense_Mutation	SNP	G	TCGA-EJ-7781-01A-11D-2114-08	506348	140720528	40194732	20	4769											
FBXO38	81545	broad.mit.edu	37	chr5	147796680	147796680	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acaatgccaacatccacgacAacaatcaccatcatccagat	17	6	3	15	1	2	1	2	0	0	1	4	2	4	1	4	0	3	0	4	0	4	0			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	9815ad1d-4855-4da4-839c-ffcf705347d3	g.chr5:147796680A>C	ENST00000340253.5	+	12	1699	c.1531A>C	c.(1531-1533)Aac>Cac	p.N511H	FBXO38_ENST00000296701.6_Missense_Mutation_p.N511H|FBXO38_ENST00000513826.1_Missense_Mutation_p.N511H|FBXO38_ENST00000394370.3_Missense_Mutation_p.N511H			Q6PIJ6	FBX38_HUMAN	F-box protein 38	511					cell death (GO:0008219)	cytoplasm (GO:0005737)|nucleus (GO:0005634)			ATG4C/FBXO38(2)	NS(1)|breast(2)|endometrium(7)|kidney(5)|large_intestine(9)|lung(15)|ovary(5)|prostate(2)|skin(2)|stomach(2)|urinary_tract(1)	51			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CATCCACGACAACAATCACCA	0.473																																						ENST00000340253.5																		ATG4C/FBXO38(2)	0				NS(1)|breast(2)|endometrium(7)|kidney(5)|large_intestine(9)|lung(15)|ovary(5)|prostate(2)|skin(2)|stomach(2)|urinary_tract(1)	51						c.(1531-1533)Aac>Cac		F-box protein 38							165	137	146					5																	147796680		2203	4300	6503	SO:0001583	missense	81545					cytoplasm|nucleus		g.chr5:147796680A>C	BC005873	CCDS43384.1, CCDS64285.1	5q33.1	2008-02-05			ENSG00000145868	ENSG00000145868		"F-boxes /  "other""	28844	protein-coding gene	gene with protein product		608533				12477932	Standard	NM_030793		Approved	MOKA, SP329, FLJ13962, Fbx38	uc003lpg.2	Q6PIJ6	OTTHUMG00000129929	ENST00000340253.5:c.1531A>C	5.37:g.147796680A>C	ENSP00000342023:p.Asn511His					FBXO38_ENST00000513826.1_Missense_Mutation_p.N511H|FBXO38_ENST00000296701.6_Missense_Mutation_p.N511H|FBXO38_ENST00000394370.3_Missense_Mutation_p.N511H	p.N511H			Q6PIJ6	FBX38_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		12	1699	+			511					Q6PK72|Q7Z2U0|Q86VN3|Q9BXY6|Q9H837|Q9HC40	Missense_Mutation	SNP	ENST00000340253.5	37	c.1531A>C		.	.	.	.	.	.	.	.	.	.	A	19.19	3.779461	0.70107	.	.	ENSG00000145868	ENST00000340253;ENST00000296701;ENST00000394370;ENST00000513826	T;T;T;T	0.34472	1.36;1.38;1.36;1.38	5.52	4.32	0.51571	.	0.190814	0.53938	N	0.000051	T	0.40473	0.1118	L	0.29908	0.895	0.53005	D	0.999964	B;D;B	0.58620	0.004;0.983;0.004	B;P;B	0.58331	0.004;0.837;0.008	T	0.13282	-1.0515	10	0.40728	T	0.16	-13.4357	10.9619	0.47389	0.8429:0.157:0.0:0.0	.	511;511;511	Q6PIJ6-3;Q6PIJ6-2;Q6PIJ6	.;.;FBX38_HUMAN	H	511	ENSP00000342023:N511H;ENSP00000296701:N511H;ENSP00000377895:N511H;ENSP00000426410:N511H	ENSP00000296701:N511H	N	+	1	0	FBXO38	147776873	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	3.792000	0.55476	0.980000	0.38523	0.383000	0.25322	AAC		0.473	FBXO38-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000252185.2	NM_030793		12	31	0	0	0	0.080935	0	12	31					C	147796680	A	C	147796680	3	2	93	1	0	0	0	0	1	0	0	0	5746	130	5	5	1573	5	FBXO38	5	147796680	Missense_Mutation	SNP	A	TCGA-EJ-7781-01A-11D-2114-08	7076152	147796680	33118580	21	4770											
KIAA0319	9856	broad.mit.edu	37	chr6	24596291	24596291	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gctgcgtctccgctggcaccGcaggactgtctccaacagag	7	7	12	15	3	2	1	0	0	2	1	4	2	2	2	3	2	2	4	3	2	1	0			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	9815ad1d-4855-4da4-839c-ffcf705347d3	g.chr6:24596291G>T	ENST00000378214.3	-	3	1135	c.611C>A	c.(610-612)gCg>gAg	p.A204E	KIAA0319_ENST00000535378.1_Missense_Mutation_p.A195E|KIAA0319_ENST00000430948.2_Missense_Mutation_p.A159E|KIAA0319_ENST00000537886.1_Missense_Mutation_p.A204E|KIAA0319_ENST00000543707.1_Missense_Mutation_p.A204E	NM_001168375.1|NM_014809.3	NP_001161847.1|NP_055624.2	Q5VV43	K0319_HUMAN	KIAA0319	204					negative regulation of dendrite development (GO:2000171)|neuron migration (GO:0001764)	early endosome (GO:0005769)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(3)|endometrium(6)|kidney(3)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	53						CGCTGGCACCGCAGGACTGTC	0.622																																						ENST00000535378.1																			0				breast(3)|endometrium(6)|kidney(3)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	53						c.(583-585)gCg>gAg		KIAA0319							39	35	37					6																	24596291		2203	4300	6503	SO:0001583	missense	9856				negative regulation of dendrite development|neuron migration	early endosome membrane|integral to membrane|plasma membrane	protein binding	g.chr6:24596291G>T	AB002317	CCDS34348.1, CCDS54969.1, CCDS54970.1, CCDS54971.1, CCDS75409.1	6p22.3	2013-12-13			ENSG00000137261	ENSG00000137261			21580	protein-coding gene	gene with protein product	"neuronal migration"	609269				9205841, 15514892	Standard	NM_014809		Approved	NMIG	uc003neh.1	Q5VV43	OTTHUMG00000014358	ENST00000378214.3:c.611C>A	6.37:g.24596291G>T	ENSP00000367459:p.Ala204Glu					KIAA0319_ENST00000378214.3_Missense_Mutation_p.A204E|KIAA0319_ENST00000537886.1_Missense_Mutation_p.A204E|KIAA0319_ENST00000430948.2_Missense_Mutation_p.A159E|KIAA0319_ENST00000543707.1_Missense_Mutation_p.A204E	p.A195E	NM_001168374.1	NP_001161846.1	Q5VV43	K0319_HUMAN			4	1226	-			204					A7MD37|B2RTU7|B4DHA7|B4DK75|B7ZML3|F5H123|Q9UJC8|Q9Y4G7	Missense_Mutation	SNP	ENST00000378214.3	37	c.584C>A	CCDS34348.1	.	.	.	.	.	.	.	.	.	.	G	3.316	-0.139788	0.06669	.	.	ENSG00000137261	ENST00000537886;ENST00000535378;ENST00000430948;ENST00000378214;ENST00000543707	T;T;T;T;T	0.06849	3.26;3.25;3.25;3.26;3.26	4.24	1.41	0.22369	.	1.495310	0.04213	N	0.332133	T	0.01592	0.0051	L	0.27053	0.805	0.09310	N	1	B;P;P	0.47191	0.099;0.891;0.826	B;B;B	0.41988	0.02;0.372;0.206	T	0.38308	-0.9667	10	0.07482	T	0.82	-0.7898	5.6827	0.17784	0.1738:0.0:0.5031:0.3231	.	204;195;204	F5H123;Q5VV43-2;Q5VV43	.;.;K0319_HUMAN	E	204;195;159;204;204	ENSP00000439700:A204E;ENSP00000442403:A195E;ENSP00000401086:A159E;ENSP00000367459:A204E;ENSP00000437656:A204E	ENSP00000367459:A204E	A	-	2	0	KIAA0319	24704270	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.516000	0.22817	-0.315000	0.08703	-1.817000	0.00601	GCG		0.622	KIAA0319-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040009.1	NM_014809		3	36	1	0	0.004672	0.115264	0.00490856	3	36					T	24596291	G	T	24596291	3	4	93	1	0	0	0	0	1	0	0	0	8168	1087	38	5	2683	5	KIAA0319	6	24596291	Missense_Mutation	SNP	G	TCGA-EJ-7781-01A-11D-2114-08		24596291	146518776	22	4771											
PKHD1	5314	broad.mit.edu	37	chr6	51612955	51612955	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtaacatggcaccatagtcAaagttcttgaaagccaagaa	16	9	8	8	0	2	2	1	1	1	1	2	2	2	2	2	1	2	3	2	1	6	4			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	9815ad1d-4855-4da4-839c-ffcf705347d3	g.chr6:51612955A>C	ENST00000371117.3	-	58	9734	c.9459T>G	c.(9457-9459)ttT>ttG	p.F3153L	PKHD1_ENST00000340994.4_Missense_Mutation_p.F3153L	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	3153					cellular calcium ion homeostasis (GO:0006874)|cilium assembly (GO:0042384)|homeostatic process (GO:0042592)|kidney development (GO:0001822)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular component movement (GO:0051271)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of cell proliferation (GO:0008284)|regulation of centrosome duplication (GO:0010824)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of TOR signaling (GO:0032006)|single organismal cell-cell adhesion (GO:0016337)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|primary cilium (GO:0072372)	receptor activity (GO:0004872)			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					CACCATAGTCAAAGTTCTTGA	0.408																																						ENST00000371117.3																			0				NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304						c.(9457-9459)ttT>ttG		polycystic kidney and hepatic disease 1 (autosomal recessive)							171	183	179					6																	51612955		2203	4300	6503	SO:0001583	missense	5314				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity	g.chr6:51612955A>C	AF480064	CCDS4935.1, CCDS4936.1	6p21.2-p12	2012-11-26	2003-04-16		ENSG00000170927	ENSG00000170927			9016	protein-coding gene	gene with protein product	"tigmin", "polyductin", "fibrocystin"	606702	"TIG multiple domains 1"	TIGM1		9503014	Standard	NM_138694		Approved	ARPKD, FCYT	uc003pah.1	P08F94	OTTHUMG00000014841	ENST00000371117.3:c.9459T>G	6.37:g.51612955A>C	ENSP00000360158:p.Phe3153Leu					PKHD1_ENST00000340994.4_Missense_Mutation_p.F3153L	p.F3153L	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN			58	9734	-	Lung NSC(77;0.0605)		3153					Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Missense_Mutation	SNP	ENST00000371117.3	37	c.9459T>G	CCDS4935.1	.	.	.	.	.	.	.	.	.	.	A	19.16	3.774468	0.70107	.	.	ENSG00000170927	ENST00000371117;ENST00000340994;ENST00000393616	T;T	0.79454	-1.27;-1.27	5.86	4.71	0.59529	Pectin lyase fold/virulence factor (1);Pectin lyase fold (1);	0.152670	0.47093	D	0.000256	T	0.65344	0.2682	M	0.63428	1.95	0.36792	D	0.884902	P;P;P	0.44281	0.711;0.663;0.831	B;B;B	0.44085	0.356;0.403;0.44	T	0.64943	-0.6288	10	0.29301	T	0.29	.	11.1111	0.48232	0.9281:0.0:0.0719:0.0	.	3153;3153;3153	A8MVM9;P08F94-2;P08F94	.;.;PKHD1_HUMAN	L	3153	ENSP00000360158:F3153L;ENSP00000341097:F3153L	ENSP00000341097:F3153L	F	-	3	2	PKHD1	51720914	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	1.933000	0.40153	1.050000	0.40346	0.533000	0.62120	TTT		0.408	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040893.1	NM_138694		16	209	0	0	0	0.146539	0	16	209					C	51612955	A	C	51612955	3	2	93	1	0	0	0	0	1	0	0	0	11971	127	5	5	2844	5	PKHD1	6	51612955	Missense_Mutation	SNP	A	TCGA-EJ-7781-01A-11D-2114-08	27016664	51612955	119502112	23	4772											
FAM83B	222584	broad.mit.edu	37	chr6	54805411	54805411	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gttcctctttagtatttaaaCccactttacctgagcaaaag	12	14	5	10	0	1	1	0	1	1	0	2	1	2	1	3	0	3	3	3	0	7	8			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	9815ad1d-4855-4da4-839c-ffcf705347d3	g.chr6:54805411C>A	ENST00000306858.7	+	5	1758	c.1642C>A	c.(1642-1644)Ccc>Acc	p.P548T	RP3-523K23.2_ENST00000562834.1_RNA	NM_001010872.1	NP_001010872.1	Q5T0W9	FA83B_HUMAN	family with sequence similarity 83, member B	548										autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71	Lung NSC(77;0.0178)|Renal(3;0.122)					AGTATTTAAACCCACTTTACC	0.423																																						ENST00000306858.7																			0				autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71						c.(1642-1644)Ccc>Acc		family with sequence similarity 83, member B							82	82	82					6																	54805411		2203	4300	6503	SO:0001583	missense	222584							g.chr6:54805411C>A	AK055204	CCDS34479.1	6p12.1	2014-03-13	2006-03-23	2006-03-23	ENSG00000168143	ENSG00000168143			21357	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 143"	C6orf143		22886302	Standard	NM_001010872		Approved	FLJ30642	uc003pck.4	Q5T0W9	OTTHUMG00000014899	ENST00000306858.7:c.1642C>A	6.37:g.54805411C>A	ENSP00000304078:p.Pro548Thr						p.P548T	NM_001010872.1	NP_001010872.1	Q5T0W9	FA83B_HUMAN			5	1758	+	Lung NSC(77;0.0178)|Renal(3;0.122)		548					Q2M1P3|Q96DQ2	Missense_Mutation	SNP	ENST00000306858.7	37	c.1642C>A	CCDS34479.1	.	.	.	.	.	.	.	.	.	.	C	15.66	2.899054	0.52227	.	.	ENSG00000168143	ENST00000306858	T	0.37752	1.18	5.66	5.66	0.87406	.	0.070560	0.64402	D	0.000011	T	0.48409	0.1498	M	0.67953	2.075	0.47153	D	0.99933	D	0.69078	0.997	P	0.61874	0.895	T	0.46735	-0.9170	10	0.66056	D	0.02	-19.7478	15.5909	0.76526	0.0:0.863:0.137:0.0	.	548	Q5T0W9	FA83B_HUMAN	T	548	ENSP00000304078:P548T	ENSP00000304078:P548T	P	+	1	0	FAM83B	54913370	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	2.585000	0.46111	2.832000	0.97577	0.655000	0.94253	CCC		0.423	FAM83B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040994.1	XM_294139		5	64	1	0	1.23904e-05	0.014758	1.3712e-05	5	64					A	54805411	C	A	54805411	3	1	93	1	0	0	0	0	1	0	0	0	5634	507	18	5	1656	5	FAM83B	6	54805411	Missense_Mutation	SNP	C	TCGA-EJ-7781-01A-11D-2114-08	3192456	54805411	116309656	24	4773											
PDE10A	10846	broad.mit.edu	37	chr6	165752808	165752808	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cttcttgtctctgtccatcaTaggaataggctgtattccca	8	15	7	11	0	3	0	1	0	2	0	6	1	5	1	2	2	0	2	2	2	4	6			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	9815ad1d-4855-4da4-839c-ffcf705347d3	g.chr6:165752808T>C	ENST00000366882.1	-	21	2261	c.2107A>G	c.(2107-2109)Atg>Gtg	p.M703V	PDE10A_ENST00000354448.4_Missense_Mutation_p.M703V|PDE10A_ENST00000539869.2_Missense_Mutation_p.M713V			Q9Y233	PDE10_HUMAN	phosphodiesterase 10A	703					blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cGMP catabolic process (GO:0046069)|regulation of cAMP-mediated signaling (GO:0043949)|regulation of protein kinase A signaling (GO:0010738)|signal transduction (GO:0007165)	cytosol (GO:0005829)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity (GO:0004118)|metal ion binding (GO:0046872)			breast(4)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(39)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	71		Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221)		OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05)	Caffeine(DB00201)|Dipyridamole(DB00975)|Papaverine(DB01113)|Tofisopam(DB08811)|Triflusal(DB08814)	CTGTCCATCATAGGAATAGGC	0.353																																					Esophageal Squamous(22;308 615 5753 12038 40624)	ENST00000366882.1																			0				breast(4)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(39)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	71						c.(2107-2109)Atg>Gtg		phosphodiesterase 10A	Dipyridamole(DB00975)						143	145	144					6																	165752808		2203	4300	6503	SO:0001583	missense	10846				platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cAMP binding|cGMP binding|metal ion binding	g.chr6:165752808T>C	AB020593	CCDS47513.1	6q26	2008-03-18			ENSG00000112541	ENSG00000112541	3.1.4.17	"Phosphodiesterases"	8772	protein-coding gene	gene with protein product		610652				10373451	Standard	NM_001130690		Approved		uc003quo.3	Q9Y233	OTTHUMG00000015986	ENST00000366882.1:c.2107A>G	6.37:g.165752808T>C	ENSP00000355847:p.Met703Val					PDE10A_ENST00000539869.2_Missense_Mutation_p.M713V|PDE10A_ENST00000354448.4_Missense_Mutation_p.M703V	p.M703V			Q9Y233	PDE10_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05)	21	2261	-		Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221)	703					Q6FHX1|Q9HCP9|Q9NTV4|Q9ULW9|Q9Y5T1	Missense_Mutation	SNP	ENST00000366882.1	37	c.2107A>G		.	.	.	.	.	.	.	.	.	.	T	21.2	4.115194	0.77210	.	.	ENSG00000112541	ENST00000366882;ENST00000539869;ENST00000343842;ENST00000354448;ENST00000392126	T;T	0.78003	-1.14;-1.14	5.78	5.78	0.91487	5&apos (2);-cyclic nucleotide phosphodiesterase, catalytic domain (2);3&apos (2);	0.000000	0.85682	D	0.000000	T	0.82231	0.4992	M	0.65498	2.005	0.51233	D	0.999917	P;B	0.47409	0.895;0.159	P;B	0.57720	0.826;0.067	D	0.84792	0.0779	10	0.87932	D	0	.	16.1138	0.81283	0.0:0.0:0.0:1.0	.	713;703	Q9ULW9;Q9Y233	.;PDE10_HUMAN	V	703;731;713;703;702	ENSP00000355847:M703V;ENSP00000346435:M703V	ENSP00000341187:M713V	M	-	1	0	PDE10A	165672798	1.000000	0.71417	0.181000	0.23098	0.835000	0.47333	7.428000	0.80296	2.220000	0.72140	0.533000	0.62120	ATG		0.353	PDE10A-001	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000043031.1			4	126	0	0	0	0.150653	0	4	126					C	165752808	T	C	165752808	3	2	93	1	0	0	0	0	1	0	0	0	11630	1406	49	4	244	4	PDE10A	6	165752808	Missense_Mutation	SNP	T	TCGA-EJ-7781-01A-11D-2114-08	110947397	165752808	5362259	25	4774											
KLHL7	55975	broad.mit.edu	37	chr7	23207656	23207656	+	Splice_Site	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttatgatcctgccacagaaaCgtatgtatctatttaaaatt	14	15	5	7	1	1	2	0	1	1	1	2	2	2	2	2	0	2	2	2	0	7	7			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	9815ad1d-4855-4da4-839c-ffcf705347d3	g.chr7:23207656C>G	ENST00000339077.5	+	9	1622	c.1379C>G	c.(1378-1380)aCa>aGa	p.T460R	KLHL7_ENST00000409689.1_Splice_Site_p.T412R|KLHL7_ENST00000545443.1_Splice_Site_p.T438R|KLHL7_ENST00000542558.1_Splice_Site_p.T235R|KLHL7_ENST00000539124.1_Splice_Site_p.T384R|KLHL7_ENST00000322231.7_Splice_Site_p.T438R	NM_001031710.2	NP_001026880.2	Q8IXQ5	KLHL7_HUMAN	kelch-like family member 7	460					protein ubiquitination (GO:0016567)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						GCCACAGAAACGTATGTATCT	0.368																																						ENST00000322231.7																			0				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						c.e10+1		kelch-like family member 7							96	95	95					7																	23207656		2203	4300	6503	SO:0001630	splice_region_variant	55975					Golgi apparatus|nucleolus|plasma membrane		g.chr7:23207656C>G		CCDS5378.1, CCDS34609.1, CCDS5378.2, CCDS55095.1	7p15.3	2013-01-30	2013-01-30		ENSG00000122550	ENSG00000122550		"Kelch-like", "BTB/POZ domain containing"	15646	protein-coding gene	gene with protein product	"retinitis pigmentosa 42"	611119	"kelch-like 7 (Drosophila)"			19520207	Standard	NM_001031710		Approved	KLHL6, SBBI26, RP42	uc003svs.4	Q8IXQ5	OTTHUMG00000094813	ENST00000339077.5:c.1379+1C>G	7.37:g.23207656C>G						KLHL7_ENST00000339077.4_Splice_Site_p.T460_splice|KLHL7_ENST00000545443.1_Splice_Site_p.T438_splice|KLHL7_ENST00000542558.1_Splice_Site_p.T235_splice|KLHL7_ENST00000539124.1_Splice_Site_p.T384_splice|KLHL7_ENST00000409689.1_Splice_Site_p.T412_splice	p.T438_splice			Q8IXQ5	KLHL7_HUMAN			10	1803	+			460					A4D144|B7Z5I9|G5E9G3|Q7Z765|Q96MV2|Q9BQF8|Q9UDQ9	Splice_Site	SNP	ENST00000339077.5	37	c.1313_splice	CCDS34609.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	7.003|7.003	0.555313|0.555313	0.13436|0.13436	.|.	.|.	ENSG00000122550|ENSG00000122550	ENST00000536369|ENST00000538858;ENST00000322231;ENST00000339077;ENST00000539124;ENST00000542558;ENST00000409689;ENST00000545443	.|T;T;T;T;T;T	.|0.79653	.|-1.29;-1.29;-1.29;-1.29;-1.29;-1.29	5.69|5.69	5.69|5.69	0.88448|0.88448	.|Kelch-type beta propeller (1);	.|0.160092	.|0.56097	.|D	.|0.000038	T|T	0.72187|0.72187	0.3429|0.3429	N|N	0.21583|0.21583	0.68|0.68	0.58432|0.58432	D|D	0.999995|0.999995	.|B;B;B	.|0.19200	.|0.034;0.012;0.01	.|B;B;B	.|0.16289	.|0.015;0.007;0.004	T|T	0.64871|0.64871	-0.6305|-0.6305	6|10	0.17832|0.31617	T|T	0.49|0.26	.|.	19.813|19.813	0.96554|0.96554	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|235;460;438	.|B7Z3P9;Q8IXQ5;Q8IXQ5-2	.|.;KLHL7_HUMAN;.	D|R	380|301;438;460;384;235;412;438	.|ENSP00000322958:T438R;ENSP00000343273:T460R;ENSP00000441136:T384R;ENSP00000442367:T235R;ENSP00000386263:T412R;ENSP00000442366:T438R	ENSP00000442363:H380D|ENSP00000322958:T438R	H|T	+|+	1|2	0|0	KLHL7|KLHL7	23174181|23174181	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.871000|0.871000	0.50021|0.50021	5.755000|5.755000	0.68750|0.68750	2.683000|2.683000	0.91414|0.91414	0.591000|0.591000	0.81541|0.81541	CAT|ACA		0.368	KLHL7-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326860.3	NM_018846	Missense_Mutation	4	42	0	0	0	0.021553	0	4	42					G	23207656	C	G	23207656	5	3	93	1	0	0	0	0	0	0	1	0	8394	550	19	5	1476	5	KLHL7	7	23207656	Splice_Site	SNP	C	TCGA-EJ-7781-01A-11D-2114-08		23207656	135931007	26	4775											
ERLIN2	11160	broad.mit.edu	37	chr8	37601885	37601885	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tccaatagtggtggtgtgatGatctactttgacagaattga	11	14	11	5	0	1	5	0	4	1	1	2	5	2	5	1	2	1	0	1	2	4	4			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	9815ad1d-4855-4da4-839c-ffcf705347d3	g.chr8:37601885G>A	ENST00000276461.5	+	5	316	c.249G>A	c.(247-249)atG>atA	p.M83I	ERLIN2_ENST00000518586.1_Missense_Mutation_p.M83I|ERLIN2_ENST00000335171.6_Missense_Mutation_p.M83I|ERLIN2_ENST00000523887.1_Missense_Mutation_p.M83I|ERLIN2_ENST00000523107.1_Missense_Mutation_p.M83I|ERLIN2_ENST00000397228.2_Missense_Mutation_p.M83I|ERLIN2_ENST00000519638.1_Missense_Mutation_p.M83I	NM_007175.6	NP_009106.1	O94905	ERLN2_HUMAN	ER lipid raft associated 2	83					cell death (GO:0008219)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|protein complex (GO:0043234)				NS(1)|large_intestine(1)|lung(5)	7		Lung NSC(58;0.174)	BRCA - Breast invasive adenocarcinoma(5;6.14e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)			GTGGTGTGATGATCTACTTTG	0.507																																						ENST00000276461.5																			0				NS(1)|large_intestine(1)|lung(5)	7						c.(247-249)atG>atA		ER lipid raft associated 2							330	308	316					8																	37601885		2203	4300	6503	SO:0001583	missense	11160				ER-associated protein catabolic process	endoplasmic reticulum membrane|integral to membrane|plasma membrane	protein binding	g.chr8:37601885G>A	AY358108	CCDS6095.1, CCDS34879.1	8p11.2	2012-11-23	2007-01-26	2007-01-26	ENSG00000147475	ENSG00000147475			1356	protein-coding gene	gene with protein product		611605	"chromosome 8 open reading frame 2", "SPFH domain family, member 2"	C8orf2, SPFH2, Erlin-2		10449903, 15897872, 16835267	Standard	NM_007175		Approved	NET32, SPG18	uc003xke.4	O94905	OTTHUMG00000164005	ENST00000276461.5:c.249G>A	8.37:g.37601885G>A	ENSP00000276461:p.Met83Ile					ERLIN2_ENST00000519638.1_Missense_Mutation_p.M83I|ERLIN2_ENST00000397228.2_Missense_Mutation_p.M83I|ERLIN2_ENST00000335171.6_Missense_Mutation_p.M83I|ERLIN2_ENST00000523107.1_Missense_Mutation_p.M83I|ERLIN2_ENST00000523887.1_Missense_Mutation_p.M83I|ERLIN2_ENST00000518586.1_Missense_Mutation_p.M83I	p.M83I	NM_007175.6	NP_009106.1	O94905	ERLN2_HUMAN	BRCA - Breast invasive adenocarcinoma(5;6.14e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)		5	316	+		Lung NSC(58;0.174)	83					A0JLQ1|A8K5S9|B4DM38|D3DSW0|Q6NW21|Q86VS6|Q86W49	Missense_Mutation	SNP	ENST00000276461.5	37	c.249G>A	CCDS6095.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.105839	0.77096	.	.	ENSG00000147475	ENST00000397228;ENST00000518526;ENST00000523887;ENST00000276461;ENST00000518586;ENST00000335171;ENST00000521644;ENST00000519638	D;T;D;D;D;D;D;D	0.94046	-3.34;-1.15;-3.34;-3.34;-3.34;-3.34;-3.34;-3.34	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	D	0.95020	0.8388	L	0.41236	1.265	0.80722	D	1	P;B;B	0.49559	0.925;0.066;0.036	D;B;B	0.65140	0.932;0.039;0.016	D	0.93244	0.6629	10	0.34782	T	0.22	-45.7792	20.5827	0.99408	0.0:0.0:1.0:0.0	.	83;83;83	O94905;O94905-3;O94905-2	ERLN2_HUMAN;.;.	I	83;40;83;83;83;83;83;83	ENSP00000380405:M83I;ENSP00000429229:M40I;ENSP00000429903:M83I;ENSP00000276461:M83I;ENSP00000427847:M83I;ENSP00000335220:M83I;ENSP00000429621:M83I;ENSP00000428112:M83I	ENSP00000276461:M83I	M	+	3	0	ERLIN2	37721043	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.803000	0.99136	2.941000	0.99782	0.655000	0.94253	ATG		0.507	ERLIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376712.2	NM_007175		18	257	0	0	0	0.175082	0	18	257					A	37601885	G	A	37601885	3	1	93	1	0	0	0	0	1	0	0	0	5233	1290	45	3	263	3	ERLIN2	8	37601885	Missense_Mutation	SNP	G	TCGA-EJ-7781-01A-11D-2114-08		37601885	108762137	27	4776											
ERLIN2	11160	broad.mit.edu	37	chr8	37602094	37602094	+	Missense_Mutation	SNP	G	G	A																															ctccttccctctcagtgtatGatatagtgaagaactatact																										TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	9815ad1d-4855-4da4-839c-ffcf705347d3	g.chr8:37602094G>A	ENST00000276461.5	+	6	371	c.304G>A	c.(304-306)Gat>Aat	p.D102N	ERLIN2_ENST00000518586.1_Missense_Mutation_p.D102N|ERLIN2_ENST00000335171.6_Missense_Mutation_p.D102N|ERLIN2_ENST00000523887.1_Missense_Mutation_p.D102N|ERLIN2_ENST00000523107.1_Missense_Mutation_p.D102N|ERLIN2_ENST00000397228.2_Missense_Mutation_p.D102N|ERLIN2_ENST00000519638.1_Missense_Mutation_p.D102N	NM_007175.6	NP_009106.1	O94905	ERLN2_HUMAN	ER lipid raft associated 2	102					cell death (GO:0008219)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|protein complex (GO:0043234)				NS(1)|large_intestine(1)|lung(5)	7		Lung NSC(58;0.174)	BRCA - Breast invasive adenocarcinoma(5;6.14e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)			CTCAGTGTATGATATAGTGAA	0.478																																						ENST00000276461.5																			0				NS(1)|large_intestine(1)|lung(5)	7						c.(304-306)Gat>Aat		ER lipid raft associated 2							126	115	119					8																	37602094		2203	4300	6503	SO:0001583	missense	11160				ER-associated protein catabolic process	endoplasmic reticulum membrane|integral to membrane|plasma membrane	protein binding	g.chr8:37602094G>A	AY358108	CCDS6095.1, CCDS34879.1	8p11.2	2012-11-23	2007-01-26	2007-01-26	ENSG00000147475	ENSG00000147475			1356	protein-coding gene	gene with protein product		611605	"chromosome 8 open reading frame 2", "SPFH domain family, member 2"	C8orf2, SPFH2, Erlin-2		10449903, 15897872, 16835267	Standard	NM_007175		Approved	NET32, SPG18	uc003xke.4	O94905	OTTHUMG00000164005	ENST00000276461.5:c.304G>A	8.37:g.37602094G>A	ENSP00000276461:p.Asp102Asn					ERLIN2_ENST00000519638.1_Missense_Mutation_p.D102N|ERLIN2_ENST00000397228.2_Missense_Mutation_p.D102N|ERLIN2_ENST00000335171.6_Missense_Mutation_p.D102N|ERLIN2_ENST00000523107.1_Missense_Mutation_p.D102N|ERLIN2_ENST00000523887.1_Missense_Mutation_p.D102N|ERLIN2_ENST00000518586.1_Missense_Mutation_p.D102N	p.D102N	NM_007175.6	NP_009106.1	O94905	ERLN2_HUMAN	BRCA - Breast invasive adenocarcinoma(5;6.14e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)		6	371	+		Lung NSC(58;0.174)	102					A0JLQ1|A8K5S9|B4DM38|D3DSW0|Q6NW21|Q86VS6|Q86W49	Missense_Mutation	SNP	ENST00000276461.5	37	c.304G>A	CCDS6095.1	.	.	.	.	.	.	.	.	.	.	G	36	5.817997	0.96982	.	.	ENSG00000147475	ENST00000397228;ENST00000518526;ENST00000523887;ENST00000276461;ENST00000518586;ENST00000335171;ENST00000521644;ENST00000519638	D;D;D;D;D;D;D;D	0.94457	-3.43;-3.43;-3.43;-3.43;-3.43;-3.43;-3.43;-3.43	6.16	6.16	0.99307	.	0.000000	0.85682	D	0.000000	D	0.96327	0.8802	M	0.69358	2.11	0.80722	D	1	D;D;B	0.69078	0.997;0.996;0.138	D;D;B	0.80764	0.994;0.956;0.073	D	0.91992	0.5604	10	0.02654	T	1	-29.5069	20.8598	0.99761	0.0:0.0:1.0:0.0	.	102;102;102	O94905;O94905-3;O94905-2	ERLN2_HUMAN;.;.	N	102;59;102;102;102;102;102;102	ENSP00000380405:D102N;ENSP00000429229:D59N;ENSP00000429903:D102N;ENSP00000276461:D102N;ENSP00000427847:D102N;ENSP00000335220:D102N;ENSP00000429621:D102N;ENSP00000428112:D102N	ENSP00000276461:D102N	D	+	1	0	ERLIN2	37721252	1.000000	0.71417	0.993000	0.49108	0.997000	0.91878	9.858000	0.99539	2.937000	0.99478	0.650000	0.86243	GAT		0.478	ERLIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376712.2	NM_007175		11	115	0	0	0	0.105934	0	11	115					A	37602094	G	A	37602094	3	1	93	1	0	0	0	0	1	0	0	0	5233	1290	45	3	322	3	ERLIN2	8	37602094	Missense_Mutation	SNP	G	TCGA-EJ-7781-01A-11D-2114-08	209	37602094	108761928	28	4777	28	2									
ERLIN2	11160	broad.mit.edu	37	chr8	37602102	37602102	+	Silent	SNP	G	G	A																															ctctcagtgtatgatatagtGaagaactatactgctgacta																										TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	9815ad1d-4855-4da4-839c-ffcf705347d3	g.chr8:37602102G>A	ENST00000276461.5	+	6	379	c.312G>A	c.(310-312)gtG>gtA	p.V104V	ERLIN2_ENST00000518586.1_Silent_p.V104V|ERLIN2_ENST00000335171.6_Silent_p.V104V|ERLIN2_ENST00000523887.1_Silent_p.V104V|ERLIN2_ENST00000523107.1_Silent_p.V104V|ERLIN2_ENST00000397228.2_Silent_p.V104V|ERLIN2_ENST00000519638.1_Silent_p.V104V	NM_007175.6	NP_009106.1	O94905	ERLN2_HUMAN	ER lipid raft associated 2	104					cell death (GO:0008219)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|protein complex (GO:0043234)				NS(1)|large_intestine(1)|lung(5)	7		Lung NSC(58;0.174)	BRCA - Breast invasive adenocarcinoma(5;6.14e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)			ATGATATAGTGAAGAACTATA	0.478																																						ENST00000276461.5																			0				NS(1)|large_intestine(1)|lung(5)	7						c.(310-312)gtG>gtA		ER lipid raft associated 2							127	114	119					8																	37602102		2203	4300	6503	SO:0001819	synonymous_variant	11160				ER-associated protein catabolic process	endoplasmic reticulum membrane|integral to membrane|plasma membrane	protein binding	g.chr8:37602102G>A	AY358108	CCDS6095.1, CCDS34879.1	8p11.2	2012-11-23	2007-01-26	2007-01-26	ENSG00000147475	ENSG00000147475			1356	protein-coding gene	gene with protein product		611605	"chromosome 8 open reading frame 2", "SPFH domain family, member 2"	C8orf2, SPFH2, Erlin-2		10449903, 15897872, 16835267	Standard	NM_007175		Approved	NET32, SPG18	uc003xke.4	O94905	OTTHUMG00000164005	ENST00000276461.5:c.312G>A	8.37:g.37602102G>A						ERLIN2_ENST00000519638.1_Silent_p.V104V|ERLIN2_ENST00000397228.2_Silent_p.V104V|ERLIN2_ENST00000335171.6_Silent_p.V104V|ERLIN2_ENST00000523107.1_Silent_p.V104V|ERLIN2_ENST00000523887.1_Silent_p.V104V|ERLIN2_ENST00000518586.1_Silent_p.V104V	p.V104V	NM_007175.6	NP_009106.1	O94905	ERLN2_HUMAN	BRCA - Breast invasive adenocarcinoma(5;6.14e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)		6	379	+		Lung NSC(58;0.174)	104					A0JLQ1|A8K5S9|B4DM38|D3DSW0|Q6NW21|Q86VS6|Q86W49	Silent	SNP	ENST00000276461.5	37	c.312G>A	CCDS6095.1																																																																																				0.478	ERLIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376712.2	NM_007175		10	120	0	0	0	0.09319	0	10	120					A	37602102	G	A	37602102	2	1	93	1	0	0	0	0	0	0	0	1	5233	1277	45	3		3	ERLIN2	8	37602102	Silent	SNP	G	TCGA-EJ-7781-01A-11D-2114-08	8	37602102	108761920	29	4778	28	2									
ERLIN2	11160	broad.mit.edu	37	chr8	37611003	37611003	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cccgggagaaggcaaaggcaGatgctgagtgctacactgct	11	6	14	10	1	0	3	0	1	0	2	0	4	0	3	1	3	4	5	1	3	3	1			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	9815ad1d-4855-4da4-839c-ffcf705347d3	g.chr8:37611003G>C	ENST00000276461.5	+	11	842	c.775G>C	c.(775-777)Gat>Cat	p.D259H	ERLIN2_ENST00000519638.1_Missense_Mutation_p.D259H	NM_007175.6	NP_009106.1	O94905	ERLN2_HUMAN	ER lipid raft associated 2	259	Interaction with ERLIN1.				cell death (GO:0008219)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|protein complex (GO:0043234)				NS(1)|large_intestine(1)|lung(5)	7		Lung NSC(58;0.174)	BRCA - Breast invasive adenocarcinoma(5;6.14e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)			GGCAAAGGCAGATGCTGAGTG	0.498																																						ENST00000276461.5																			0				NS(1)|large_intestine(1)|lung(5)	7						c.(775-777)Gat>Cat		ER lipid raft associated 2							63	57	59					8																	37611003		2203	4300	6503	SO:0001583	missense	11160				ER-associated protein catabolic process	endoplasmic reticulum membrane|integral to membrane|plasma membrane	protein binding	g.chr8:37611003G>C	AY358108	CCDS6095.1, CCDS34879.1	8p11.2	2012-11-23	2007-01-26	2007-01-26	ENSG00000147475	ENSG00000147475			1356	protein-coding gene	gene with protein product		611605	"chromosome 8 open reading frame 2", "SPFH domain family, member 2"	C8orf2, SPFH2, Erlin-2		10449903, 15897872, 16835267	Standard	NM_007175		Approved	NET32, SPG18	uc003xke.4	O94905	OTTHUMG00000164005	ENST00000276461.5:c.775G>C	8.37:g.37611003G>C	ENSP00000276461:p.Asp259His					ERLIN2_ENST00000519638.1_Missense_Mutation_p.D259H	p.D259H	NM_007175.6	NP_009106.1	O94905	ERLN2_HUMAN	BRCA - Breast invasive adenocarcinoma(5;6.14e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)		11	842	+		Lung NSC(58;0.174)	259			Interaction with ERLIN1.		A0JLQ1|A8K5S9|B4DM38|D3DSW0|Q6NW21|Q86VS6|Q86W49	Missense_Mutation	SNP	ENST00000276461.5	37	c.775G>C	CCDS6095.1	.	.	.	.	.	.	.	.	.	.	G	32	5.149903	0.94645	.	.	ENSG00000147475	ENST00000276461;ENST00000521644;ENST00000519638	T;T;T	0.69685	-0.42;-0.42;-0.42	5.97	5.97	0.96955	.	0.000000	0.85682	D	0.000000	D	0.84620	0.5512	M	0.84683	2.71	0.80722	D	1	D	0.76494	0.999	D	0.79784	0.993	D	0.84430	0.0576	10	0.51188	T	0.08	-30.1351	20.4135	0.99023	0.0:0.0:1.0:0.0	.	259	O94905	ERLN2_HUMAN	H	259	ENSP00000276461:D259H;ENSP00000429621:D259H;ENSP00000428112:D259H	ENSP00000276461:D259H	D	+	1	0	ERLIN2	37730161	1.000000	0.71417	0.711000	0.30485	0.892000	0.51952	9.869000	0.99810	2.835000	0.97688	0.591000	0.81541	GAT		0.498	ERLIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376712.2	NM_007175		3	54	0	0	0	0.150653	0	3	54					C	37611003	G	C	37611003	3	2	93	1	0	0	0	0	1	0	0	0	5233	942	33	5	852	5	ERLIN2	8	37611003	Missense_Mutation	SNP	G	TCGA-EJ-7781-01A-11D-2114-08	8901	37611003	108753019	30	4779											
VCPIP1	80124	broad.mit.edu	37	chr8	67578194	67578195	+	Frame_Shift_Ins	INS	-	-	A																															ttcaaatgaccatctttcccINSagtgcacttctctgcaggga																										TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	9815ad1d-4855-4da4-839c-ffcf705347d3	g.chr8:67578194_67578195insA	ENST00000310421.4	-	1	1257_1258	c.999_1000insT	c.(997-1002)actgggfs	p.G334fs	C8orf44_ENST00000519561.1_5'Flank|C8orf44_ENST00000521889.1_5'Flank|C8orf44-SGK3_ENST00000519289.1_5'Flank	NM_025054.4	NP_079330.2	Q96JH7	VCIP1_HUMAN	valosin containing protein (p97)/p47 complex interacting protein 1	334	OTU. {ECO:0000255|PROSITE- ProRule:PRU00139}.				endoplasmic reticulum membrane fusion (GO:0016320)|Golgi reassembly (GO:0090168)|mitotic nuclear division (GO:0007067)|protein K11-linked deubiquitination (GO:0035871)|protein K48-linked deubiquitination (GO:0071108)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)	ubiquitin-specific protease activity (GO:0004843)			breast(7)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(6)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		Lung NSC(129;0.142)|all_lung(136;0.227)	Epithelial(68;0.000771)|OV - Ovarian serous cystadenocarcinoma(28;0.00248)|all cancers(69;0.00296)|BRCA - Breast invasive adenocarcinoma(89;0.149)			CCATCTTTCCCAGTGCACTTCT	0.47																																					NSCLC(179;265 2915 6144 43644)	ENST00000310421.4																			0				breast(7)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(6)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						c.(997-1002)acggaafs		valosin containing protein (p97)/p47 complex interacting protein 1																																				SO:0001589	frameshift_variant	80124				protein ubiquitination	endoplasmic reticulum|Golgi stack	ubiquitin-specific protease activity	g.chr8:67578194_67578195insA	AB058753	CCDS6192.1	8q13	2014-02-24			ENSG00000175073	ENSG00000175073		"OTU domain containing"	30897	protein-coding gene	gene with protein product		611745				11347906, 12509440	Standard	NM_025054		Approved	VCIP135, KIAA1850, FLJ23132, DUBA3	uc003xwn.3	Q96JH7	OTTHUMG00000164560	ENST00000310421.4:c.1000dupT	8.37:g.67578195_67578195dupA	ENSP00000309031:p.Gly334fs						p.E334fs	NM_025054.4	NP_079330.2	Q96JH7	VCIP1_HUMAN	Epithelial(68;0.000771)|OV - Ovarian serous cystadenocarcinoma(28;0.00248)|all cancers(69;0.00296)|BRCA - Breast invasive adenocarcinoma(89;0.149)		1	1257_1258	-		Lung NSC(129;0.142)|all_lung(136;0.227)	334			OTU.		Q504T4|Q86T93|Q86W01|Q8N3A9|Q9H5R8	Frame_Shift_Ins	INS	ENST00000310421.4	37	c.999_1000insT	CCDS6192.1																																																																																				0.47	VCPIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379227.1			13	146						13	146	---	---	---	---	A	67578195	-	A	67578194	7	5	93	1	0	1	1	0	0	0	0	0	17138	594	21	0	2680	0	VCPIP1	8	67578194	Frame_Shift_Ins	INS	-	TCGA-EJ-7781-01A-11D-2114-08	29967191	67578194	78785828	31	4780											
ADCY8	114	broad.mit.edu	37	chr8	131916039	131916039	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttctgtttccccacgatattAtcaaagggcagttcagggct	9	13	9	10	1	3	0	2	0	1	0	4	1	4	0	2	2	0	4	2	2	3	5			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	9815ad1d-4855-4da4-839c-ffcf705347d3	g.chr8:131916039A>T	ENST00000286355.5	-	7	3982	c.1890T>A	c.(1888-1890)gaT>gaA	p.D630E	ADCY8_ENST00000377928.3_Missense_Mutation_p.D630E	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	630					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|learning or memory (GO:0007611)|long-term memory (GO:0007616)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			CCACGATATTATCAAAGGGCA	0.502										HNSCC(32;0.087)																												ENST00000286355.5																			0				NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						c.(1888-1890)gaT>gaA		adenylate cyclase 8 (brain)							108	95	99					8																	131916039		2203	4300	6503	SO:0001583	missense	114				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding	g.chr8:131916039A>T	Z35309	CCDS6363.1	8q24	2013-02-04			ENSG00000155897	ENSG00000155897	4.6.1.1	"Adenylate cyclases"	239	protein-coding gene	gene with protein product		103070		ADCY3		8076676	Standard	NM_001115		Approved	HBAC1, AC8	uc003ytd.4	P40145	OTTHUMG00000164756	ENST00000286355.5:c.1890T>A	8.37:g.131916039A>T	ENSP00000286355:p.Asp630Glu	HNSCC(32;0.087)				ADCY8_ENST00000377928.3_Missense_Mutation_p.D630E	p.D630E	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000538)		7	3982	-	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		630						Missense_Mutation	SNP	ENST00000286355.5	37	c.1890T>A	CCDS6363.1	.	.	.	.	.	.	.	.	.	.	A	11.81	1.751091	0.31046	.	.	ENSG00000155897	ENST00000286355;ENST00000377928;ENST00000522949	T;T;T	0.79247	-0.98;-0.98;-1.25	6.08	3.65	0.41850	.	0.163770	0.56097	D	0.000021	T	0.52725	0.1752	N	0.04508	-0.205	0.33558	D	0.596932	P;B	0.36789	0.57;0.288	B;B	0.39503	0.301;0.1	T	0.58719	-0.7587	10	0.06625	T	0.88	.	8.6731	0.34163	0.832:0.0:0.168:0.0	.	630;630	E7EVL1;P40145	.;ADCY8_HUMAN	E	630;630;245	ENSP00000286355:D630E;ENSP00000367161:D630E;ENSP00000428010:D245E	ENSP00000286355:D630E	D	-	3	2	ADCY8	131985221	1.000000	0.71417	1.000000	0.80357	0.734000	0.41952	2.530000	0.45641	0.507000	0.28148	0.482000	0.46254	GAT		0.502	ADCY8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380080.1			10	73	0	0	0	0.058154	0	10	73					T	131916039	A	T	131916039	3	4	93	1	0	0	0	0	1	0	0	0	300	446	16	5	1913	5	ADCY8	8	131916039	Missense_Mutation	SNP	A	TCGA-EJ-7781-01A-11D-2114-08	64337845	131916039	14447983	32	4781											
DAPK1	1612	broad.mit.edu	37	chr9	90261436	90261436	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atattcaaatactacagttgCtcattaaaagaggctcgaga	16	11	7	7	1	2	2	2	0	0	2	3	3	2	2	0	1	3	3	0	1	6	6			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	9815ad1d-4855-4da4-839c-ffcf705347d3	g.chr9:90261436C>G	ENST00000408954.3	+	13	1527	c.1192C>G	c.(1192-1194)Ctc>Gtc	p.L398V	DAPK1_ENST00000469640.2_Missense_Mutation_p.L398V|DAPK1_ENST00000358077.5_Missense_Mutation_p.L398V|DAPK1_ENST00000491893.1_Missense_Mutation_p.L398V|DAPK1_ENST00000472284.1_Missense_Mutation_p.L398V	NM_004938.2	NP_004929.2	P53355	DAPK1_HUMAN	death-associated protein kinase 1	398					apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cellular response to interferon-gamma (GO:0071346)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|intracellular signal transduction (GO:0035556)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of translation (GO:0017148)|positive regulation of apoptotic process (GO:0043065)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of apoptotic process (GO:0042981)|regulation of autophagy (GO:0010506)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|calmodulin-dependent protein kinase activity (GO:0004683)|identical protein binding (GO:0042802)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(27)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(3)|stomach(1)	72						ACTACAGTTGCTCATTAAAAG	0.343									Chronic Lymphocytic Leukemia, Familial Clustering of																													ENST00000469640.2																			0				breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(27)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(3)|stomach(1)	72						c.(1192-1194)Ctc>Gtc		death-associated protein kinase 1							98	92	94					9																	90261436		1850	4090	5940	SO:0001583	missense	1612	Chronic Lymphocytic Leukemia, Familial Clustering of	Familial Cancer Database	Familial CLL	apoptosis|induction of apoptosis by extracellular signals|intracellular protein kinase cascade	actin cytoskeleton|cytoplasm	ATP binding|calmodulin binding|protein serine/threonine kinase activity	g.chr9:90261436C>G	X76104	CCDS43842.1	9q34.1	2013-01-10			ENSG00000196730	ENSG00000196730		"Ankyrin repeat domain containing"	2674	protein-coding gene	gene with protein product		600831				8530096	Standard	XM_005251757		Approved	DAPK	uc004apd.3	P53355	OTTHUMG00000020150	ENST00000408954.3:c.1192C>G	9.37:g.90261436C>G	ENSP00000386135:p.Leu398Val					DAPK1_ENST00000491893.1_Missense_Mutation_p.L398V|DAPK1_ENST00000472284.1_Missense_Mutation_p.L398V|DAPK1_ENST00000408954.3_Missense_Mutation_p.L398V|DAPK1_ENST00000358077.5_Missense_Mutation_p.L398V	p.L398V			P53355	DAPK1_HUMAN			13	1567	+			398					B7ZLD2|B7ZLE7|Q14CQ7|Q1W5W0|Q68CP8|Q6ZRZ3|Q9BTL8	Missense_Mutation	SNP	ENST00000408954.3	37	c.1192C>G	CCDS43842.1	.	.	.	.	.	.	.	.	.	.	C	16.91	3.253968	0.59212	.	.	ENSG00000196730	ENST00000358077;ENST00000472284;ENST00000469640;ENST00000408954;ENST00000491893	D;D;D;D;D	0.86030	-2.06;-2.06;-1.75;-2.06;-1.75	5.02	5.02	0.67125	Ankyrin repeat-containing domain (4);	0.000000	0.45361	D	0.000371	D	0.92107	0.7498	M	0.93678	3.445	0.58432	D	0.99999	D;P;P	0.55800	0.973;0.58;0.762	P;B;B	0.54499	0.754;0.298;0.301	D	0.93527	0.6866	10	0.87932	D	0	.	13.2341	0.59958	0.0:0.9237:0.0:0.0763	.	398;398;398	B7ZLE7;B7Z454;P53355	.;.;DAPK1_HUMAN	V	398	ENSP00000350785:L398V;ENSP00000417076:L398V;ENSP00000418885:L398V;ENSP00000386135:L398V;ENSP00000419026:L398V	ENSP00000350785:L398V	L	+	1	0	DAPK1	89451256	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.260000	0.51523	2.773000	0.95371	0.655000	0.94253	CTC		0.343	DAPK1-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356843.1	NM_004938		14	58	0	0	0	0.160694	0	14	58					G	90261436	C	G	90261436	3	3	93	1	0	0	0	0	1	0	0	0	4235	797	28	5	1238	5	DAPK1	9	90261436	Missense_Mutation	SNP	C	TCGA-EJ-7781-01A-11D-2114-08		90261436	50951995	33	4782											
NOTCH1	4851	broad.mit.edu	37	chr9	139401765	139401765	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	agcggcccttaccctgagtgCcccgtgggcaggagcacttg	6	7	14	14	2	0	1	0	1	0	0	0	2	0	2	4	3	4	2	4	3	1	2			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	9815ad1d-4855-4da4-839c-ffcf705347d3	g.chr9:139401765C>T	ENST00000277541.6	-	22	3710	c.3635G>A	c.(3634-3636)gGc>gAc	p.G1212D		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	1212	EGF-like 31; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				anagen (GO:0042640)|aortic valve morphogenesis (GO:0003180)|apoptotic process involved in embryonic digit morphogenesis (GO:1902263)|arterial endothelial cell differentiation (GO:0060842)|atrioventricular node development (GO:0003162)|atrioventricular valve morphogenesis (GO:0003181)|auditory receptor cell fate commitment (GO:0009912)|axonogenesis (GO:0007409)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac atrium morphogenesis (GO:0003209)|cardiac chamber formation (GO:0003207)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac left ventricle morphogenesis (GO:0003214)|cardiac muscle cell proliferation (GO:0060038)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac right atrium morphogenesis (GO:0003213)|cardiac right ventricle formation (GO:0003219)|cardiac septum morphogenesis (GO:0060411)|cardiac vascular smooth muscle cell development (GO:0060948)|cardiac ventricle morphogenesis (GO:0003208)|cell fate specification (GO:0001708)|cell migration involved in endocardial cushion formation (GO:0003273)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|cilium morphogenesis (GO:0060271)|collecting duct development (GO:0072044)|compartment pattern specification (GO:0007386)|coronary artery morphogenesis (GO:0060982)|coronary vein morphogenesis (GO:0003169)|determination of left/right symmetry (GO:0007368)|distal tubule development (GO:0072017)|embryonic hindlimb morphogenesis (GO:0035116)|endocardial cell differentiation (GO:0060956)|endocardial cushion morphogenesis (GO:0003203)|endocardium development (GO:0003157)|endocardium morphogenesis (GO:0003160)|endoderm development (GO:0007492)|epithelial to mesenchymal transition (GO:0001837)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|forebrain development (GO:0030900)|foregut morphogenesis (GO:0007440)|gene expression (GO:0010467)|glial cell differentiation (GO:0010001)|glomerular mesangial cell development (GO:0072144)|growth involved in heart morphogenesis (GO:0003241)|hair follicle morphogenesis (GO:0031069)|heart development (GO:0007507)|heart looping (GO:0001947)|heart trabecula morphogenesis (GO:0061384)|humoral immune response (GO:0006959)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|keratinocyte differentiation (GO:0030216)|left/right axis specification (GO:0070986)|liver development (GO:0001889)|lung development (GO:0030324)|mesenchymal cell development (GO:0014031)|mitral valve formation (GO:0003192)|negative regulation of anoikis (GO:2000811)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of endothelial cell chemotaxis (GO:2001027)|negative regulation of glial cell proliferation (GO:0060253)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of neurogenesis (GO:0050768)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of ossification (GO:0030279)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of photoreceptor cell differentiation (GO:0046533)|negative regulation of pro-B cell differentiation (GO:2000974)|negative regulation of stem cell differentiation (GO:2000737)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|Notch signaling pathway involved in regulation of secondary heart field cardioblast proliferation (GO:0003270)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061419)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland epithelium morphogenesis (GO:0060740)|pulmonary valve morphogenesis (GO:0003184)|regulation of epithelial cell proliferation involved in prostate gland development (GO:0060768)|regulation of extracellular matrix assembly (GO:1901201)|regulation of somitogenesis (GO:0014807)|regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003256)|regulation of transcription, DNA-templated (GO:0006355)|response to muramyl dipeptide (GO:0032495)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell division (GO:0048103)|sprouting angiogenesis (GO:0002040)|transcription initiation from RNA polymerase II promoter (GO:0006367)|tube formation (GO:0035148)|vasculogenesis involved in coronary vascular morphogenesis (GO:0060979)|venous endothelial cell differentiation (GO:0060843)|ventricular septum morphogenesis (GO:0060412)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|MAML1-RBP-Jkappa- ICN1 complex (GO:0002193)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|receptor activity (GO:0004872)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		ACCCTGAGTGCCCCGTGGGCA	0.687			"T, Mis, O"	TRB@	T-ALL					HNSCC(8;0.001)																												ENST00000277541.6				Dom	yes		9	9q34.3	4851	"T, Mis, O"	"Notch homolog 1, translocation-associated (Drosophila) (TAN1)"			L	TRB@		T-ALL		0				breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359						c.(3634-3636)gGc>gAc		notch 1							35	39	37					9																	139401765		1992	4163	6155	SO:0001583	missense	4851				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	g.chr9:139401765C>T	AF308602	CCDS43905.1	9q34.3	2013-01-10	2010-06-24		ENSG00000148400	ENSG00000148400		"Ankyrin repeat domain containing"	7881	protein-coding gene	gene with protein product		190198	"Notch (Drosophila) homolog 1 (translocation-associated)", "Notch homolog 1, translocation-associated (Drosophila)"	TAN1		1831692	Standard	NM_017617		Approved		uc004chz.3	P46531	OTTHUMG00000020935	ENST00000277541.6:c.3635G>A	9.37:g.139401765C>T	ENSP00000277541:p.Gly1212Asp	HNSCC(8;0.001)					p.G1212D	NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)	22	3710	-	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)	1212			EGF-like 31; calcium-binding (Potential).		Q59ED8|Q5SXM3	Missense_Mutation	SNP	ENST00000277541.6	37	c.3635G>A	CCDS43905.1	.	.	.	.	.	.	.	.	.	.	C	25.9	4.686807	0.88639	.	.	ENSG00000148400	ENST00000277541	D	0.98192	-4.78	5.13	5.13	0.70059	EGF (1);EGF-like region, conserved site (1);EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	D	0.000000	D	0.99162	0.9710	M	0.91717	3.235	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99406	1.0929	10	0.72032	D	0.01	.	17.568	0.87926	0.0:1.0:0.0:0.0	.	1212	P46531	NOTC1_HUMAN	D	1212	ENSP00000277541:G1212D	ENSP00000277541:G1212D	G	-	2	0	NOTCH1	138521586	1.000000	0.71417	1.000000	0.80357	0.542000	0.35054	7.395000	0.79876	2.382000	0.81193	0.655000	0.94253	GGC		0.687	NOTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055087.1	NM_017617		3	43	0	0	0	0.115264	0	3	43					T	139401765	C	T	139401765	3	4	93	1	0	0	0	0	1	0	0	0	10547	739	26	3	4084	3	NOTCH1	9	139401765	Missense_Mutation	SNP	C	TCGA-EJ-7781-01A-11D-2114-08	49140329	139401765	1811666	34	4783											
DIP2C	22982	broad.mit.edu	37	chr10	323440	323440	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccacgttggtcaccaagggaAccaggtccaaggcttcttgt	9	9	11	12	1	2	0	1	0	1	0	3	1	3	1	4	4	1	2	4	4	3	3			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	9815ad1d-4855-4da4-839c-ffcf705347d3	g.chr10:323440A>G	ENST00000280886.6	-	37	4583	c.4496T>C	c.(4495-4497)gTt>gCt	p.V1499A	AL603831.1_ENST00000579524.1_RNA	NM_014974.2	NP_055789.1	Q9Y2E4	DIP2C_HUMAN	DIP2 disco-interacting protein 2 homolog C (Drosophila)	1499						nucleus (GO:0005634)	catalytic activity (GO:0003824)			breast(8)|endometrium(6)|kidney(10)|large_intestine(13)|lung(26)|ovary(3)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	81		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	OV - Ovarian serous cystadenocarcinoma(33;0.136)	Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		CACCAAGGGAACCAGGTCCAA	0.542																																						ENST00000280886.6																			0				breast(8)|endometrium(6)|kidney(10)|large_intestine(13)|lung(26)|ovary(3)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	81						c.(4495-4497)gTt>gCt		DIP2 disco-interacting protein 2 homolog C (Drosophila)							131	112	118					10																	323440		2203	4300	6503	SO:0001583	missense	22982					nucleus	catalytic activity|transcription factor binding	g.chr10:323440A>G	BC035216	CCDS7054.1	10p15.3	2006-01-13	2006-01-13	2006-01-13	ENSG00000151240	ENSG00000151240			29150	protein-coding gene	gene with protein product		611380	"KIAA0934"	KIAA0934			Standard	NM_014974		Approved		uc001ifp.3	Q9Y2E4	OTTHUMG00000017532	ENST00000280886.6:c.4496T>C	10.37:g.323440A>G	ENSP00000280886:p.Val1499Ala						p.V1499A	NM_014974.2	NP_055789.1	Q9Y2E4	DIP2C_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;0.136)	Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106)	37	4583	-		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	1499					B4DPI5|Q5SS78	Missense_Mutation	SNP	ENST00000280886.6	37	c.4496T>C	CCDS7054.1	.	.	.	.	.	.	.	.	.	.	A	19.18	3.777100	0.70107	.	.	ENSG00000151240	ENST00000280886;ENST00000535541	T	0.10668	2.85	6.04	6.04	0.98038	.	0.000000	0.85682	D	0.000000	T	0.14141	0.0342	L	0.43923	1.385	0.80722	D	1	B	0.33299	0.407	B	0.36378	0.223	T	0.01688	-1.1295	10	0.54805	T	0.06	-31.5245	16.5763	0.84648	1.0:0.0:0.0:0.0	.	1499	Q9Y2E4	DIP2C_HUMAN	A	1499;424	ENSP00000280886:V1499A	ENSP00000280886:V1499A	V	-	2	0	DIP2C	313440	1.000000	0.71417	0.984000	0.44739	0.578000	0.36192	9.339000	0.96797	2.317000	0.78254	0.459000	0.35465	GTT		0.542	DIP2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046389.1	NM_014974		5	40	0	0	0	0.021553	0	5	40					G	323440	A	G	323440	3	3	93	1	0	0	0	0	1	0	0	0	4529	43	2	4	178	4	DIP2C	10	323440	Missense_Mutation	SNP	A	TCGA-EJ-7781-01A-11D-2114-08		323440	135211307	35	4784											
ZEB1	6935	broad.mit.edu	37	chr10	31810040	31810040	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agccacctttaaagaacctcTtgtctctcctaaaagcatat	13	12	4	12	0	2	1	0	0	2	1	4	1	3	1	4	0	3	1	4	0	6	5			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	9815ad1d-4855-4da4-839c-ffcf705347d3	g.chr10:31810040T>A	ENST00000320985.10	+	7	1887	c.1777T>A	c.(1777-1779)Ttg>Atg	p.L593M	ZEB1_ENST00000361642.5_Missense_Mutation_p.L594M|ZEB1_ENST00000559858.1_3'UTR|ZEB1_ENST00000542815.3_Missense_Mutation_p.L526M|ZEB1_ENST00000560721.2_Missense_Mutation_p.L573M|ZEB1_ENST00000446923.2_Missense_Mutation_p.L577M			P37275	ZEB1_HUMAN	zinc finger E-box binding homeobox 1	593					cartilage development (GO:0051216)|cell proliferation (GO:0008283)|cellular response to amino acid stimulus (GO:0071230)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cochlea morphogenesis (GO:0090103)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic skeletal system morphogenesis (GO:0048704)|forebrain development (GO:0030900)|immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial cell differentiation (GO:0030857)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|pattern specification process (GO:0007389)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of mesenchymal cell proliferation (GO:0010464)|regulation of smooth muscle cell differentiation (GO:0051150)|regulation of T cell differentiation in thymus (GO:0033081)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|response to activity (GO:0014823)|response to nutrient levels (GO:0031667)|semicircular canal morphogenesis (GO:0048752)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|E-box binding (GO:0070888)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(2)|breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(38)|ovary(3)|skin(6)|upper_aerodigestive_tract(4)	77		Prostate(175;0.0156)				AAAGAACCTCTTGTCTCTCCT	0.438																																					Ovarian(40;423 959 14296 36701 49589)	ENST00000446923.2																			0				NS(2)|breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(38)|ovary(3)|skin(6)|upper_aerodigestive_tract(4)	77						c.(1729-1731)Ttg>Atg		zinc finger E-box binding homeobox 1							81	83	82					10																	31810040		2203	4300	6503	SO:0001583	missense	6935				cell proliferation|immune response|negative regulation of transcription from RNA polymerase II promoter|positive regulation of neuron differentiation	cytoplasm	E-box binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding	g.chr10:31810040T>A	AK091478	CCDS7169.1, CCDS44370.1, CCDS53505.1, CCDS53506.1, CCDS53507.1	10p11.22	2014-02-14	2007-02-15	2007-02-15	ENSG00000148516	ENSG00000148516		"Zinc fingers, C2H2-type", "Homeoboxes / ZF class"	11642	protein-coding gene	gene with protein product		189909	"transcription factor 8 (represses interleukin 2 expression)", "posterior polymorphous corneal dystrophy 3"	TCF8, PPCD3		1427828, 1840704, 15384081, 16252232	Standard	NM_001128128		Approved	BZP, ZEB, AREB6, NIL-2-A, Zfhep, Zfhx1a, FECD6	uc001ivu.4	P37275	OTTHUMG00000017907	ENST00000320985.10:c.1777T>A	10.37:g.31810040T>A	ENSP00000319248:p.Leu593Met					ZEB1_ENST00000559858.1_3'UTR|ZEB1_ENST00000320985.10_Missense_Mutation_p.L593M|ZEB1_ENST00000542815.3_Missense_Mutation_p.L526M|ZEB1_ENST00000361642.5_Missense_Mutation_p.L594M|ZEB1_ENST00000560721.2_Missense_Mutation_p.L573M	p.L577M	NM_001128128.2|NM_001174094.1	NP_001121600.1|NP_001167565.1	P37275	ZEB1_HUMAN			7	2120	+		Prostate(175;0.0156)	593					B4DJV0|B4DUW9|E9PCM7|F5H4I8|Q12924|Q13800|Q2KJ05|Q5T968|Q5VZ84|Q8NB68	Missense_Mutation	SNP	ENST00000320985.10	37	c.1729T>A	CCDS7169.1	.	.	.	.	.	.	.	.	.	.	T	0.604	-0.827643	0.02734	.	.	ENSG00000148516	ENST00000542879;ENST00000537225;ENST00000361642;ENST00000546250;ENST00000542815;ENST00000320985;ENST00000437844;ENST00000541037;ENST00000543514;ENST00000446923	T;T;T;T;T	0.75050	-0.9;-0.9;-0.9;-0.9;-0.9	5.34	-1.66	0.08265	Homeodomain-related (1);Homeobox (2);	0.398232	0.18121	N	0.151028	T	0.77377	0.4121	L	0.53671	1.685	0.42150	D	0.991554	P;D;D;B;B;P;B;B	0.71674	0.723;0.996;0.998;0.332;0.373;0.883;0.332;0.332	B;D;D;B;B;P;B;B	0.68039	0.391;0.913;0.955;0.173;0.18;0.745;0.173;0.173	T	0.73694	-0.3902	10	0.14252	T	0.57	-5.5274	12.5131	0.56017	0.0:0.4493:0.0:0.5507	.	526;593;577;593;593;573;594;593	F5H4I8;F5H1R1;E9PCM7;B2RBI8;A0JLS9;Q5VZ84;Q2KJ05;P37275	.;.;.;.;.;.;.;ZEB1_HUMAN	M	375;593;594;593;526;593;573;452;484;577	ENSP00000444282:L375M;ENSP00000354487:L594M;ENSP00000444891:L526M;ENSP00000319248:L593M;ENSP00000391612:L577M	ENSP00000319248:L593M	L	+	1	2	ZEB1	31850046	0.749000	0.28305	0.947000	0.38551	0.374000	0.29953	0.478000	0.22212	-0.124000	0.11724	0.533000	0.62120	TTG		0.438	ZEB1-018	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000419083.2	NM_030751		8	84	0	0	0	0.047766	0	8	84					A	31810040	T	A	31810040	3	1	93	1	0	0	0	0	1	0	0	0	17620	1606	56	5	1817	5	ZEB1	10	31810040	Missense_Mutation	SNP	T	TCGA-EJ-7781-01A-11D-2114-08	31486600	31810040	103724707	36	4785											
RBP3	5949	broad.mit.edu	37	chr10	48389905	48389905	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggactacccctggaagggCgctgcgcagagtgaggatgg	8	6	18	9	2	0	2	0	1	0	1	0	5	0	5	2	5	2	2	2	5	2	1	rs368898051		TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	9815ad1d-4855-4da4-839c-ffcf705347d3	g.chr10:48389905C>T	ENST00000224600.4	-	1	1086	c.973G>A	c.(973-975)Gcc>Acc	p.A325T	AL731561.2_ENST00000581861.1_RNA	NM_002900.2	NP_002891.1	P10745	RET3_HUMAN	retinol binding protein 3, interstitial	325	4 X approximate tandem repeats.		A -> T. {ECO:0000269|PubMed:19074801}.		lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|transport (GO:0006810)|visual perception (GO:0007601)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|interphotoreceptor matrix (GO:0033165)|vesicle (GO:0031982)	retinal binding (GO:0016918)|retinoid binding (GO:0005501)|retinol binding (GO:0019841)|serine-type peptidase activity (GO:0008236)			central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59					Vitamin A(DB00162)	CCTGGAAGGGCGCTGCGCAGA	0.672																																						ENST00000224600.4																			0				central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59						c.(973-975)Gcc>Acc		retinol binding protein 3, interstitial	Vitamin A(DB00162)	C	THR/ALA	0,4406		0,0,2203	36	35	35		973	4.4	1	10		35	2,8598	2.2+/-6.3	0,2,4298	no	missense	RBP3	NM_002900.2	58	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	probably-damaging	325/1248	48389905	2,13004	2203	4300	6503	SO:0001583	missense	5949				lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity	g.chr10:48389905C>T	M22453	CCDS73119.1	10q11.2	2014-05-06	2001-11-28		ENSG00000107618	ENSG00000265203			9921	protein-coding gene	gene with protein product		180290	"retinol-binding protein 3, interstitial"				Standard	NM_002900		Approved	D10S64, D10S65, D10S66, RP66	uc001jez.3	P10745	OTTHUMG00000188321	ENST00000224600.4:c.973G>A	10.37:g.48389905C>T	ENSP00000224600:p.Ala325Thr						p.A325T	NM_002900.2	NP_002891.1	P10745	RET3_HUMAN			1	1086	-			325			4 X approximate tandem repeats.		Q0QD34|Q5VSR0|Q8IXN0	Missense_Mutation	SNP	ENST00000224600.4	37	c.973G>A	CCDS7218.1	.	.	.	.	.	.	.	.	.	.	C	12.97	2.098363	0.37048	0.0	2.33E-4	ENSG00000107618	ENST00000224600	T	0.64260	-0.09	5.29	4.36	0.52297	.	0.283735	0.35151	N	0.003407	T	0.76688	0.4022	M	0.74647	2.275	0.32854	D	0.506995	D	0.89917	1.0	D	0.78314	0.991	T	0.82739	-0.0308	10	0.51188	T	0.08	-24.0399	12.1203	0.53887	0.3117:0.6883:0.0:0.0	.	325	P10745	RET3_HUMAN	T	325	ENSP00000224600:A325T	ENSP00000224600:A325T	A	-	1	0	RBP3	48009911	0.751000	0.28327	0.977000	0.42913	0.123000	0.20343	1.388000	0.34442	1.194000	0.43101	0.561000	0.74099	GCC		0.672	RBP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047888.1	NM_002900		6	43	0	0	0	0.021553	0	6	43					T	48389905	C	T	48389905	3	4	93	1	0	0	0	0	1	0	0	0	13157	768	27	1	2786	1	RBP3	10	48389905	Missense_Mutation	SNP	C	TCGA-EJ-7781-01A-11D-2114-08	16579865	48389905	87144842	37	4786											
PLAU	414236	broad.mit.edu	37	chr10	75673797	75673797	+	Intron	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcgctcaaggcttaactccaAcacgcaaggggagatgaagt	13	7	11	10	2	1	2	1	1	0	1	3	3	2	2	1	3	2	3	1	3	5	1			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	9815ad1d-4855-4da4-839c-ffcf705347d3	g.chr10:75673797A>G	ENST00000409178.1	-	3	268				C10orf55_ENST00000412307.2_Intron|PLAU_ENST00000372762.4_Missense_Mutation_p.N211S|PLAU_ENST00000372764.3_Missense_Mutation_p.N247S|PLAU_ENST00000446342.1_Missense_Mutation_p.N230S	NM_001001791.2	NP_001001791.2	Q5SWW7	CJ055_HUMAN	chromosome 10 open reading frame 55											endometrium(1)	1	Prostate(51;0.0112)					CTTAACTCCAACACGCAAGGG	0.502																																						ENST00000446342.1																			0				cervix(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(3)|ovary(2)	16						c.(688-690)aAc>aGc		plasminogen activator, urokinase	Amiloride(DB00594)|Urokinase(DB00013)						116	90	99					10																	75673797		2203	4300	6503	SO:0001627	intron_variant	5328				blood coagulation|chemotaxis|fibrinolysis|proteolysis|regulation of cell adhesion mediated by integrin|regulation of receptor activity|regulation of smooth muscle cell migration|regulation of smooth muscle cell-matrix adhesion|signal transduction	cell surface|extracellular space|plasma membrane	serine-type endopeptidase activity	g.chr10:75673797A>G		CCDS53541.1	10q22.2	2012-05-24			ENSG00000222047	ENSG00000222047			31008	protein-coding gene	gene with protein product							Standard	NM_001001791		Approved	bA417O11.3	uc001jvz.2	Q5SWW7	OTTHUMG00000018496	ENST00000409178.1:c.73-964T>C	10.37:g.75673797A>G						C10orf55_ENST00000409178.1_Intron|PLAU_ENST00000372762.4_Missense_Mutation_p.N211S|C10orf55_ENST00000412307.2_Intron|PLAU_ENST00000372764.3_Missense_Mutation_p.N247S	p.N230S	NM_001145031.1	NP_001138503.1	P00749	UROK_HUMAN			7	1171	+	Prostate(51;0.0112)		247			Peptidase S1.		Q3KRG4|Q8NAK4	Missense_Mutation	SNP	ENST00000409178.1	37	c.689A>G	CCDS53541.1	.	.	.	.	.	.	.	.	.	.	A	7.336	0.619954	0.14193	.	.	ENSG00000122861	ENST00000446342;ENST00000372764;ENST00000372762;ENST00000372761	D;D;D	0.88046	-2.33;-2.33;-2.33	5.37	-10.7	0.00240	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	2.024820	0.01965	N	0.043649	T	0.64416	0.2596	N	0.11284	0.12	0.09310	N	0.999999	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.04013	0.0;0.001;0.0;0.001	T	0.62144	-0.6916	10	0.09338	T	0.73	.	0.7493	0.00987	0.1742:0.2989:0.2062:0.3207	.	230;211;247;247	E7ET40;E7ESM2;B2R7F2;P00749	.;.;.;UROK_HUMAN	S	230;247;211;211	ENSP00000388474:N230S;ENSP00000361850:N247S;ENSP00000361848:N211S	ENSP00000361847:N211S	N	+	2	0	PLAU	75343803	0.000000	0.05858	0.000000	0.03702	0.137000	0.21094	-3.273000	0.00531	-2.557000	0.00476	-0.336000	0.08194	AAC		0.502	C10orf55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048746.1	NM_001001791		6	54	0	0	0	0.021553	0	6	54					G	75673797	A	G	75673797	1	3	93	0	1	0	0	0	0	0	0	0	12022	43	2	4		4	PLAU	10	75673797	Intron	SNP	A	TCGA-EJ-7781-01A-11D-2114-08	27283892	75673797	59860950	38	4787											
TRIM21	6737	broad.mit.edu	37	chr11	4411307	4411307	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgagactgggcacatacccaGcaaagggccttcccatcttt	10	8	9	14	1	1	1	0	0	1	1	2	2	2	1	3	2	2	2	3	2	2	3			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	9815ad1d-4855-4da4-839c-ffcf705347d3	g.chr11:4411307G>A	ENST00000254436.7	-	2	445	c.333C>T	c.(331-333)tgC>tgT	p.C111C	TRIM21_ENST00000543625.1_Silent_p.C111C	NM_003141.3	NP_003132.2	P19474	RO52_HUMAN	tripartite motif containing 21	111					cell cycle (GO:0007049)|innate immune response (GO:0045087)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein deubiquitination (GO:0090086)|negative regulation of viral release from host cell (GO:1902187)|negative regulation of viral transcription (GO:0032897)|positive regulation of cell cycle (GO:0045787)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of type I interferon production (GO:0032481)|positive regulation of viral entry into host cell (GO:0046598)|protein autoubiquitination (GO:0051865)|protein destabilization (GO:0031648)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein trimerization (GO:0070206)|protein ubiquitination (GO:0016567)|regulation of type I interferon production (GO:0032479)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|RNA binding (GO:0003723)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)	16		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)		Epithelial(150;2.08e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0851)|LUSC - Lung squamous cell carcinoma(625;0.194)		CACATACCCAGCAAAGGGCCT	0.577																																						ENST00000254436.7																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)	16						c.(331-333)tgC>tgT		tripartite motif containing 21							74	78	77					11																	4411307		2046	4190	6236	SO:0001819	synonymous_variant	6737				cell cycle|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein deubiquitination|positive regulation of cell cycle|protein autoubiquitination|protein destabilization|protein monoubiquitination|protein polyubiquitination|protein trimerization	cytoplasmic mRNA processing body|nucleus	DNA binding|protein binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr11:4411307G>A	AF391283	CCDS44525.1	11p15.5-p15.3	2014-02-14	2011-01-25	2004-11-26		ENSG00000132109		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	11312	protein-coding gene	gene with protein product		109092	"Sjogren syndrome antigen A1 (52kDa, ribonucleoprotein autoantigen SS-A/Ro)", "tripartite motif-containing 21"	SSA1		8094596	Standard	NM_003141		Approved	RNF81, RO52, Ro/SSA	uc001lyy.1	P19474		ENST00000254436.7:c.333C>T	11.37:g.4411307G>A						TRIM21_ENST00000543625.1_Silent_p.C111C	p.C111C	NM_003141.3	NP_003132.2	P19474	RO52_HUMAN		Epithelial(150;2.08e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0851)|LUSC - Lung squamous cell carcinoma(625;0.194)	2	445	-		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)	111					Q5XPV5|Q96RF8	Silent	SNP	ENST00000254436.7	37	c.333C>T	CCDS44525.1																																																																																				0.577	TRIM21-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000385842.1	NM_003141		3	41	0	0	0	0.115264	0	3	41					A	4411307	G	A	4411307	2	1	93	1	0	0	0	0	0	0	0	1	16492	963	34	3		3	TRIM21	11	4411307	Silent	SNP	G	TCGA-EJ-7781-01A-11D-2114-08		4411307	130595209	39	4788											
HBE1	3046	broad.mit.edu	37	chr11	5289795	5289795	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aactccttgccaaagtgagtAgccagaataatcaccatcac	15	8	6	12	0	2	2	2	1	0	1	3	2	3	2	4	0	3	1	4	0	5	3			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	9815ad1d-4855-4da4-839c-ffcf705347d3	g.chr11:5289795A>T	ENST00000380237.1	-	5	692	c.348T>A	c.(346-348)gcT>gcA	p.A116A	HBG2_ENST00000380252.1_Intron|HBE1_ENST00000292896.2_Silent_p.A116A|HBG2_ENST00000380259.2_Intron			P02100	HBE_HUMAN	hemoglobin, epsilon 1	116					blood coagulation (GO:0007596)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|protein heterooligomerization (GO:0051291)	blood microparticle (GO:0072562)|cytosol (GO:0005829)|hemoglobin complex (GO:0005833)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxygen binding (GO:0019825)|oxygen transporter activity (GO:0005344)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|skin(1)	20		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.34e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CAAAGTGAGTAGCCAGAATAA	0.488																																						ENST00000380237.1																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|skin(1)	20						c.(346-348)gcT>gcA		hemoglobin, epsilon 1							182	164	170					11																	5289795		2201	4298	6499	SO:0001819	synonymous_variant	3046				blood coagulation	hemoglobin complex	heme binding|oxygen binding|oxygen transporter activity	g.chr11:5289795A>T	BC015537	CCDS7756.1	11p15.5	2012-10-02			ENSG00000213931	ENSG00000213931			4830	protein-coding gene	gene with protein product		142100				2649166	Standard	NM_005330		Approved	HBE	uc001mal.1	P02100	OTTHUMG00000066675	ENST00000380237.1:c.348T>A	11.37:g.5289795A>T						HBG2_ENST00000380259.2_Intron|HBE1_ENST00000292896.2_Silent_p.A116A|HBG2_ENST00000380252.1_Intron	p.A116A			P02100	HBE_HUMAN		Epithelial(150;1.34e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	5	692	-		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)	116					Q6FH44	Silent	SNP	ENST00000380237.1	37	c.348T>A	CCDS7756.1																																																																																				0.488	HBE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142973.2	NM_005330		19	135	0	0	0	0.055883	0	19	135					T	5289795	A	T	5289795	2	4	93	1	0	0	0	0	0	0	0	1	6980	407	15	5		5	HBE1	11	5289795	Silent	SNP	A	TCGA-EJ-7781-01A-11D-2114-08	878488	5289795	129716721	40	4789											
SLC5A12	159963	broad.mit.edu	37	chr11	26743040	26743040	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaggatgccccaaagcggtaGacttcagaaggggtccccag	12	5	13	11	1	1	2	1	0	0	2	2	3	2	3	4	4	2	1	4	4	4	2			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	9815ad1d-4855-4da4-839c-ffcf705347d3	g.chr11:26743040G>T	ENST00000396005.3	-	1	531	c.222C>A	c.(220-222)gtC>gtA	p.V74V	SLC5A12_ENST00000280467.6_Silent_p.V74V	NM_178498.3	NP_848593.2	Q1EHB4	SC5AC_HUMAN	solute carrier family 5 (sodium/monocarboxylate cotransporter), member 12	74					sodium ion transport (GO:0006814)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	symporter activity (GO:0015293)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)	35						CAAAGCGGTAGACTTCAGAAG	0.512																																						ENST00000396005.3																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)	35						c.(220-222)gtC>gtA		solute carrier family 5 (sodium/monocarboxylate cotransporter), member 12							87	88	88					11																	26743040		2203	4299	6502	SO:0001819	synonymous_variant	159963				sodium ion transport	apical plasma membrane|integral to membrane	symporter activity	g.chr11:26743040G>T	BC049207	CCDS7860.2	11p14.2	2013-07-19	2013-07-19		ENSG00000148942	ENSG00000148942		"Solute carriers"	28750	protein-coding gene	gene with protein product		612455	"solute carrier family 5 (sodium/glucose cotransporter), member 12"			12477932	Standard	NM_178498		Approved	MGC52019, SMCT2	uc001mra.2	Q1EHB4	OTTHUMG00000150706	ENST00000396005.3:c.222C>A	11.37:g.26743040G>T						SLC5A12_ENST00000280467.6_Silent_p.V74V	p.V74V	NM_178498.3	NP_848593.2	Q1EHB4	SC5AC_HUMAN			1	531	-			74					Q86UC7	Silent	SNP	ENST00000396005.3	37	c.222C>A	CCDS7860.2																																																																																				0.512	SLC5A12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319681.1	NM_178498		7	74	1	0	1.26484e-09	0.038147	1.43811e-09	7	74					T	26743040	G	T	26743040	2	4	93	1	0	0	0	0	0	0	0	1	14664	929	33	5		5	SLC5A12	11	26743040	Silent	SNP	G	TCGA-EJ-7781-01A-11D-2114-08	21453245	26743040	108263476	41	4790											
PTPRJ	5795	broad.mit.edu	37	chr11	48161138	48161138	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggcgccaatgcaggctttgaGctggaggtcagcagtggagc	8	7	17	9	1	1	1	1	1	0	0	1	3	1	3	1	5	4	4	1	5	1	1			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	9815ad1d-4855-4da4-839c-ffcf705347d3	g.chr11:48161138G>A	ENST00000418331.2	+	11	2605	c.2253G>A	c.(2251-2253)gaG>gaA	p.E751E		NM_002843.3	NP_002834.3	Q12913	PTPRJ_HUMAN	protein tyrosine phosphatase, receptor type, J	751	Fibronectin type-III 8. {ECO:0000255|PROSITE-ProRule:PRU00316}.				contact inhibition (GO:0060242)|heart development (GO:0007507)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of platelet-derived growth factor receptor signaling pathway (GO:0010642)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of T cell receptor signaling pathway (GO:0050860)|negative regulation of vascular permeability (GO:0043116)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine dephosphorylation (GO:0035335)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive chemotaxis (GO:0050918)|positive regulation of cell adhesion (GO:0045785)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of cell adhesion (GO:0030155)|vasculogenesis (GO:0001570)	cell projection (GO:0042995)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|delta-catenin binding (GO:0070097)|gamma-catenin binding (GO:0045295)|mitogen-activated protein kinase binding (GO:0051019)|phosphatase activity (GO:0016791)|platelet-derived growth factor receptor binding (GO:0005161)|protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)			breast(3)|endometrium(7)|kidney(7)|large_intestine(5)|lung(15)|ovary(1)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						CAGGCTTTGAGCTGGAGGTCA	0.562																																						ENST00000418331.2																			0				breast(3)|endometrium(7)|kidney(7)|large_intestine(5)|lung(15)|ovary(1)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						c.(2251-2253)gaG>gaA		protein tyrosine phosphatase, receptor type, J							71	69	70					11																	48161138		2201	4298	6499	SO:0001819	synonymous_variant	5795				contact inhibition|negative regulation of cell growth|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of MAP kinase activity|negative regulation of platelet-derived growth factor receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of T cell receptor signaling pathway|negative regulation of vascular permeability|platelet-derived growth factor receptor signaling pathway|positive chemotaxis|positive regulation of focal adhesion assembly|positive regulation of protein kinase B signaling cascade|positive regulation of survival gene product expression	cell surface|cell-cell junction|immunological synapse|integral to plasma membrane|ruffle membrane	beta-catenin binding|delta-catenin binding|gamma-catenin binding|mitogen-activated protein kinase binding|platelet-derived growth factor receptor binding|protein tyrosine phosphatase activity	g.chr11:48161138G>A	U10886	CCDS7945.1, CCDS44596.1	11p11.2	2013-02-11			ENSG00000149177	ENSG00000149177		"CD molecules", "Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Fibronectin type III domain containing"	9673	protein-coding gene	gene with protein product		600925				7937872, 7994032	Standard	NM_001098503		Approved	DEP1, HPTPeta, CD148	uc001ngp.4	Q12913	OTTHUMG00000166573	ENST00000418331.2:c.2253G>A	11.37:g.48161138G>A							p.E751E	NM_002843.3	NP_002834.3	Q12913	PTPRJ_HUMAN			11	2605	+			751			Fibronectin type-III 8.		Q15255|Q6P4H4|Q8NHM2|Q9UDA9	Silent	SNP	ENST00000418331.2	37	c.2253G>A	CCDS7945.1																																																																																				0.562	PTPRJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390525.1			5	53	0	0	0	0.014758	0	5	53					A	48161138	G	A	48161138	2	1	93	1	0	0	0	0	0	0	0	1	12804	962	34	3		3	PTPRJ	11	48161138	Silent	SNP	G	TCGA-EJ-7781-01A-11D-2114-08	21418098	48161138	86845378	42	4791											
OR5AS1	219447	broad.mit.edu	37	chr11	55798549	55798549	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tggtaatatttatttcttacTtctgcatcctcatcactgtg	8	19	5	9	0	4	0	2	0	2	0	5	0	5	0	1	1	2	2	1	1	4	7	rs376355115		TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	9815ad1d-4855-4da4-839c-ffcf705347d3	g.chr11:55798549T>A	ENST00000313555.1	+	1	655	c.655T>A	c.(655-657)Ttc>Atc	p.F219I		NM_001001921.1	NP_001001921.1	Q8N127	O5AS1_HUMAN	olfactory receptor, family 5, subfamily AS, member 1	219						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(7)|large_intestine(7)|liver(1)|lung(22)|ovary(3)|prostate(4)|skin(3)|stomach(1)	48	Esophageal squamous(21;0.00693)					TATTTCTTACTTCTGCATCCT	0.438																																						ENST00000313555.1																			0				endometrium(7)|large_intestine(7)|liver(1)|lung(22)|ovary(3)|prostate(4)|skin(3)|stomach(1)	48						c.(655-657)Ttc>Atc		olfactory receptor, family 5, subfamily AS, member 1							214	207	210					11																	55798549		2201	4296	6497	SO:0001583	missense	219447				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55798549T>A	AB065543	CCDS31516.1	11q11	2012-08-09			ENSG00000181785	ENSG00000181785		"GPCR / Class A : Olfactory receptors"	15261	protein-coding gene	gene with protein product							Standard	NM_001001921		Approved		uc010riw.2	Q8N127	OTTHUMG00000166830	ENST00000313555.1:c.655T>A	11.37:g.55798549T>A	ENSP00000324111:p.Phe219Ile						p.F219I	NM_001001921.1	NP_001001921.1	Q8N127	O5AS1_HUMAN			1	655	+	Esophageal squamous(21;0.00693)		219					Q6IFB8	Missense_Mutation	SNP	ENST00000313555.1	37	c.655T>A	CCDS31516.1	.	.	.	.	.	.	.	.	.	.	T	2.390	-0.340067	0.05243	.	.	ENSG00000181785	ENST00000313555	T	0.00034	8.87	5.23	-4.74	0.03249	GPCR, rhodopsin-like superfamily (1);	0.472859	0.15628	U	0.252548	T	0.00039	0.0001	N	0.00504	-1.425	0.09310	N	1	B	0.27013	0.166	B	0.25291	0.059	T	0.12734	-1.0536	10	0.12766	T	0.61	.	5.5087	0.16868	0.174:0.0743:0.5355:0.2162	.	219	Q8N127	O5AS1_HUMAN	I	219	ENSP00000324111:F219I	ENSP00000324111:F219I	F	+	1	0	OR5AS1	55555125	0.000000	0.05858	0.000000	0.03702	0.270000	0.26580	-1.307000	0.02733	-0.707000	0.05022	0.523000	0.50628	TTC		0.438	OR5AS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391538.1	NM_001001921		13	189	0	0	0	0.11911	0	13	189					A	55798549	T	A	55798549	3	1	93	1	0	0	0	0	1	0	0	0	11146	1609	56	5	657	5	OR5AS1	11	55798549	Missense_Mutation	SNP	T	TCGA-EJ-7781-01A-11D-2114-08	7637411	55798549	79207967	43	4792											
FAM111A	63901	broad.mit.edu	37	chr11	58919681	58919681	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	caggacaaagcatcgactgaAtgtgtcaaattttacattca	15	11	7	8	1	2	1	2	1	0	0	3	3	2	2	0	1	2	1	0	1	4	3			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	9815ad1d-4855-4da4-839c-ffcf705347d3	g.chr11:58919681A>G	ENST00000528737.1	+	5	3358	c.540A>G	c.(538-540)gaA>gaG	p.E180E	FAM111A_ENST00000531147.1_Silent_p.E180E|FAM111A_ENST00000533703.1_Silent_p.E180E|FAM111A_ENST00000361723.3_Silent_p.E180E|FAM111A_ENST00000420244.1_Silent_p.E180E			Q96PZ2	F111A_HUMAN	family with sequence similarity 111, member A	180					defense response to virus (GO:0051607)|DNA replication (GO:0006260)|negative regulation of viral genome replication (GO:0045071)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	catalytic activity (GO:0003824)			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22		all_epithelial(135;0.139)				CATCGACTGAATGTGTCAAAT	0.408																																						ENST00000528737.1																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22						c.(538-540)gaA>gaG		family with sequence similarity 111, member A							113	112	112					11																	58919681		2201	4295	6496	SO:0001819	synonymous_variant	63901				proteolysis		serine-type endopeptidase activity	g.chr11:58919681A>G	AK092953	CCDS7973.1	11q12.1	2014-03-13				ENSG00000166801			24725	protein-coding gene	gene with protein product		615292				11572484, 23996431, 23684011	Standard	NM_022074		Approved	FLJ22794, KIAA1895	uc001nnq.3	Q96PZ2		ENST00000528737.1:c.540A>G	11.37:g.58919681A>G						FAM111A_ENST00000533703.1_Silent_p.E180E|FAM111A_ENST00000361723.3_Silent_p.E180E|FAM111A_ENST00000420244.1_Silent_p.E180E|FAM111A_ENST00000531147.1_Silent_p.E180E	p.E180E			Q96PZ2	F111A_HUMAN			5	3358	+		all_epithelial(135;0.139)	180					A8K5Y8|Q5RKS9|Q5XKM2|Q68DK9|Q6IPR7|Q9H5Y1	Silent	SNP	ENST00000528737.1	37	c.540A>G	CCDS7973.1																																																																																				0.408	FAM111A-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393975.1	NM_022074		16	90	0	0	0	0.146539	0	16	90					G	58919681	A	G	58919681	2	3	93	1	0	0	0	0	0	0	0	1	5399	98	4	4		4	FAM111A	11	58919681	Silent	SNP	A	TCGA-EJ-7781-01A-11D-2114-08	3121132	58919681	76086835	44	4793											
GLB1L3	112937	broad.mit.edu	37	chr11	134181019	134181019	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgtatccccccgtgagaccGtcgctgtacctcccgctgtg	4	10	11	16	4	0	1	0	1	0	1	3	2	2	1	6	0	1	4	6	0	2	2			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	9815ad1d-4855-4da4-839c-ffcf705347d3	g.chr11:134181019G>A	ENST00000431683.2	+	13	1242	c.1242G>A	c.(1240-1242)ccG>ccA	p.P414P		NM_001080407.2	NP_001073876.2	Q8NCI6	GLBL3_HUMAN	galactosidase, beta 1-like 3	414					carbohydrate metabolic process (GO:0005975)		beta-galactosidase activity (GO:0004565)			endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|pancreas(1)	13	all_hematologic(175;0.127)	all_cancers(12;5.52e-23)|all_epithelial(12;2.15e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000162)|all_neural(223;0.0182)|Medulloblastoma(222;0.0208)|Esophageal squamous(93;0.0559)		Epithelial(10;1.3e-11)|all cancers(11;2.07e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000873)|Lung(977;0.222)		CCGTGAGACCGTCGCTGTACC	0.622																																						ENST00000431683.2																			0				endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|pancreas(1)	13						c.(1240-1242)ccG>ccA		galactosidase, beta 1-like 3							204	209	208					11																	134181019		2033	4179	6212	SO:0001819	synonymous_variant	112937				carbohydrate metabolic process		cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds	g.chr11:134181019G>A		CCDS44780.1	11q25	2008-11-06	2008-01-29		ENSG00000166105	ENSG00000166105			25147	protein-coding gene	gene with protein product						12477932	Standard	NM_001080407		Approved	FLJ90231	uc009zdf.3	Q8NCI6	OTTHUMG00000133524	ENST00000431683.2:c.1242G>A	11.37:g.134181019G>A							p.P414P	NM_001080407.2	NP_001073876.2	Q8NCI6	GLBL3_HUMAN		Epithelial(10;1.3e-11)|all cancers(11;2.07e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000873)|Lung(977;0.222)	13	1242	+	all_hematologic(175;0.127)	all_cancers(12;5.52e-23)|all_epithelial(12;2.15e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000162)|all_neural(223;0.0182)|Medulloblastoma(222;0.0208)|Esophageal squamous(93;0.0559)	414					A6NEM0|A6NN15|Q6P3S3|Q96FF8	Silent	SNP	ENST00000431683.2	37	c.1242G>A	CCDS44780.1																																																																																				0.622	GLB1L3-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393625.1	NM_138416		22	364	0	0	0	0.116897	0	22	364					A	134181019	G	A	134181019	2	1	93	1	0	0	0	0	0	0	0	1	6430	1132	40	1		1	GLB1L3	11	134181019	Silent	SNP	G	TCGA-EJ-7781-01A-11D-2114-08	75261338	134181019	825497	45	4794											
KCNA6	3742	broad.mit.edu	37	chr12	4919943	4919943	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cccctggggaaatggggaccGggggctcctcctcactcagt	6	7	14	14	1	2	0	2	0	0	0	4	2	4	2	5	6	0	1	5	6	1	0			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	9815ad1d-4855-4da4-839c-ffcf705347d3	g.chr12:4919943G>A	ENST00000280684.3	+	1	1602	c.736G>A	c.(736-738)Ggg>Agg	p.G246R	KCNA6_ENST00000433855.1_Missense_Mutation_p.G246R|RP11-234B24.4_ENST00000542988.1_lincRNA			P17658	KCNA6_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 6	246					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|breast(3)|endometrium(5)|large_intestine(6)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(5)	49					Dalfampridine(DB06637)	AATGGGGACCGGGGGCTCCTC	0.547										HNSCC(72;0.22)																												ENST00000433855.1																			0				NS(1)|breast(3)|endometrium(5)|large_intestine(6)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(5)	49						c.(736-738)Ggg>Agg		potassium voltage-gated channel, shaker-related subfamily, member 6							89	96	94					12																	4919943		2203	4300	6503	SO:0001583	missense	3742					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr12:4919943G>A	X17622	CCDS8534.1	12p13	2014-06-12						"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6225	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 96"	176257				16382104	Standard	NM_002235		Approved	Kv1.6, HBK2, PPP1R96	uc001qng.3	P17658		ENST00000280684.3:c.736G>A	12.37:g.4919943G>A	ENSP00000280684:p.Gly246Arg	HNSCC(72;0.22)				KCNA6_ENST00000280684.3_Missense_Mutation_p.G246R	p.G246R	NM_002235.3	NP_002226.1	P17658	KCNA6_HUMAN			1	1602	+			246						Missense_Mutation	SNP	ENST00000280684.3	37	c.736G>A	CCDS8534.1	.	.	.	.	.	.	.	.	.	.	G	0.902	-0.722042	0.03182	.	.	ENSG00000151079	ENST00000433855;ENST00000280684	D;D	0.97232	-4.3;-4.3	4.97	4.08	0.47627	.	.	.	.	.	D	0.92509	0.7621	L	0.40543	1.245	0.09310	N	0.999997	B	0.06786	0.001	B	0.04013	0.001	T	0.81393	-0.0953	9	0.09590	T	0.72	.	5.2312	0.15422	0.1811:0.1859:0.633:0.0	.	246	P17658	KCNA6_HUMAN	R	246	ENSP00000408321:G246R;ENSP00000280684:G246R	ENSP00000280684:G246R	G	+	1	0	KCNA6	4790204	0.971000	0.33674	0.051000	0.19133	0.004000	0.04260	2.982000	0.49337	1.318000	0.45170	0.655000	0.94253	GGG		0.547	KCNA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398909.1	NM_002235		5	113	0	0	0	0.02938	0	5	113					A	4919943	G	A	4919943	3	1	93	1	0	0	0	0	1	0	0	0	8007	1116	39	2	738	2	KCNA6	12	4919943	Missense_Mutation	SNP	G	TCGA-EJ-7781-01A-11D-2114-08		4919943	128931952	46	4795											
STAB2	55576	broad.mit.edu	37	chr12	104107521	104107521	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgcacgtgcaaagcaggctaCacgggtgatggcattgtgtg	9	9	15	8	2	0	1	0	1	0	0	0	1	0	1	0	3	4	5	0	3	2	2			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	9815ad1d-4855-4da4-839c-ffcf705347d3	g.chr12:104107521C>T	ENST00000388887.2	+	42	4716	c.4512C>T	c.(4510-4512)taC>taT	p.Y1504Y		NM_017564.9	NP_060034.9			stabilin 2											NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						AAGCAGGCTACACGGGTGATG	0.517																																						ENST00000388887.2																			0				NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						c.(4510-4512)taC>taT		stabilin 2							300	267	278					12																	104107521		2203	4300	6503	SO:0001819	synonymous_variant	55576				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity	g.chr12:104107521C>T	AF160476	CCDS31888.1	12q23.3	2007-01-29				ENSG00000136011			18629	protein-coding gene	gene with protein product	"hyaluronic acid receptor for endocytosis"	608561				11829752, 12077138	Standard	XR_429107		Approved	DKFZP434E0321, FELL, STAB-2, HARE, FEEL-2	uc001tjw.3	Q8WWQ8	OTTHUMG00000170056	ENST00000388887.2:c.4512C>T	12.37:g.104107521C>T							p.Y1504Y	NM_017564.9	NP_060034.9	Q8WWQ8	STAB2_HUMAN			42	4716	+			1504			EGF-like 12.			Silent	SNP	ENST00000388887.2	37	c.4512C>T	CCDS31888.1																																																																																				0.517	STAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407089.1			19	203	0	0	0	0.069288	0	19	203					T	104107521	C	T	104107521	2	4	93	1	0	0	0	0	0	0	0	1	15237	489	17	3		3	STAB2	12	104107521	Silent	SNP	C	TCGA-EJ-7781-01A-11D-2114-08	99187578	104107521	29744374	47	4796											
FLT1	2321	broad.mit.edu	37	chr13	28877423	28877423	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgcgcttgccttcgctgaCgtgcccacagctggaatggc	5	9	12	15	3	0	1	0	1	0	0	1	2	0	2	3	2	4	3	3	2	1	2			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	9815ad1d-4855-4da4-839c-ffcf705347d3	g.chr13:28877423C>T	ENST00000282397.4	-	30	4149	c.3898G>A	c.(3898-3900)Gtc>Atc	p.V1300I	FLT1_ENST00000543394.1_Missense_Mutation_p.V323I|FLT1_ENST00000540678.1_Missense_Mutation_p.V518I	NM_002019.4	NP_002010.2	P17948	VGFR1_HUMAN	fms-related tyrosine kinase 1	1300					blood vessel morphogenesis (GO:0048514)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|embryonic morphogenesis (GO:0048598)|monocyte chemotaxis (GO:0002548)|patterning of blood vessels (GO:0001569)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein autophosphorylation (GO:0046777)|sprouting angiogenesis (GO:0002040)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor receptor-1 signaling pathway (GO:0036323)|vascular endothelial growth factor signaling pathway (GO:0038084)	endosome (GO:0005768)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|placental growth factor-activated receptor activity (GO:0036332)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)|VEGF-A-activated receptor activity (GO:0036326)|VEGF-B-activated receptor activity (GO:0036327)			NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Axitinib(DB06626)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	CCTTCGCTGACGTGCCCACAG	0.547																																						ENST00000282397.4																			0				NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115						c.(3898-3900)Gtc>Atc		fms-related tyrosine kinase 1	Sunitinib(DB01268)						88	76	80					13																	28877423		2203	4300	6503	SO:0001583	missense	2321				cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway	extracellular space|Golgi apparatus|integral to plasma membrane|nucleus	ATP binding|growth factor binding|vascular endothelial growth factor receptor activity	g.chr13:28877423C>T	AF063657	CCDS9330.1, CCDS53860.1, CCDS53861.1, CCDS73556.1	13q12	2014-09-17	2012-11-19		ENSG00000102755	ENSG00000102755	2.7.10.1	"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	3763	protein-coding gene	gene with protein product	"vascular endothelial growth factor receptor 1", "vascular permeability factor receptor"	165070	"fms-related tyrosine kinase 1 (vascular endothelial growth factor/vascular permeability factor receptor)"	FLT		2158038	Standard	NM_001159920		Approved	VEGFR1	uc001usb.3	P17948	OTTHUMG00000016648	ENST00000282397.4:c.3898G>A	13.37:g.28877423C>T	ENSP00000282397:p.Val1300Ile					FLT1_ENST00000543394.1_Missense_Mutation_p.V323I|FLT1_ENST00000540678.1_Missense_Mutation_p.V518I	p.V1300I	NM_002019.4	NP_002010.2	P17948	VGFR1_HUMAN	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	30	4149	-	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	1300					A3E342|A3E344|A8KA71|B0LPF1|B2BF46|B2BF47|B2BF48|B3FR89|B5A923|F5H5L6|O60722|P16057|Q12954	Missense_Mutation	SNP	ENST00000282397.4	37	c.3898G>A	CCDS9330.1	.	.	.	.	.	.	.	.	.	.	C	0.246	-1.009737	0.02095	.	.	ENSG00000102755	ENST00000282397;ENST00000543394;ENST00000540678	T;T;T	0.77358	-0.85;-1.07;-1.09	5.06	-10.1	0.00402	.	1.428260	0.03970	N	0.291565	T	0.49012	0.1532	N	0.04636	-0.2	0.09310	N	1	B	0.09022	0.002	B	0.01281	0.0	T	0.46762	-0.9168	10	0.21540	T	0.41	.	6.1024	0.20055	0.1526:0.3873:0.3684:0.0916	.	1300	P17948	VGFR1_HUMAN	I	1300;323;518	ENSP00000282397:V1300I;ENSP00000437841:V323I;ENSP00000443311:V518I	ENSP00000282397:V1300I	V	-	1	0	FLT1	27775423	0.001000	0.12720	0.000000	0.03702	0.001000	0.01503	-2.441000	0.01015	-3.734000	0.00114	-1.486000	0.00981	GTC		0.547	FLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044322.1			5	73	0	0	0	0.014758	0	5	73					T	28877423	C	T	28877423	3	4	93	1	0	0	0	0	1	0	0	0	5941	536	19	1	122	1	FLT1	13	28877423	Missense_Mutation	SNP	C	TCGA-EJ-7781-01A-11D-2114-08		28877423	86292455	48	4797											
OR5AU1	390445	broad.mit.edu	37	chr14	21624148	21624148	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccttctgaagatgagtcttaTtgagggcatttggctttgca	8	15	11	7	0	2	4	0	3	2	1	2	4	2	4	1	2	1	3	1	2	2	5			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	9815ad1d-4855-4da4-839c-ffcf705347d3	g.chr14:21624148T>C	ENST00000304418.3	-	1	74	c.37A>G	c.(37-39)Ata>Gta	p.I13V		NM_001004731.1	NP_001004731.1	Q8NGC0	O5AU1_HUMAN	olfactory receptor, family 5, subfamily AU, member 1	13						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(12)|pancreas(1)	21	all_cancers(95;0.00238)		Epithelial(56;6.88e-07)|all cancers(55;6.02e-06)	GBM - Glioblastoma multiforme(265;0.0192)		ATGAGTCTTATTGAGGGCATT	0.448																																						ENST00000304418.3																			0				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(12)|pancreas(1)	21						c.(37-39)Ata>Gta		olfactory receptor, family 5, subfamily AU, member 1							169	161	164					14																	21624148		2203	4300	6503	SO:0001583	missense	390445				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:21624148T>C	AL157687	CCDS32042.1	14q11.2	2013-09-23			ENSG00000169327	ENSG00000169327		"GPCR / Class A : Olfactory receptors"	15362	protein-coding gene	gene with protein product							Standard	NM_001004731		Approved		uc010tlp.2	Q8NGC0	OTTHUMG00000170753	ENST00000304418.3:c.37A>G	14.37:g.21624148T>C	ENSP00000302057:p.Ile13Val						p.I13V	NM_001004731.1	NP_001004731.1	Q8NGC0	O5AU1_HUMAN	Epithelial(56;6.88e-07)|all cancers(55;6.02e-06)	GBM - Glioblastoma multiforme(265;0.0192)	1	74	-	all_cancers(95;0.00238)		13					B2RP78|Q6IEU2|Q96R10	Missense_Mutation	SNP	ENST00000304418.3	37	c.37A>G	CCDS32042.1	.	.	.	.	.	.	.	.	.	.	t	0.464	-0.887655	0.02511	.	.	ENSG00000169327	ENST00000304418	T	0.00004	9.8	3.85	-1.29	0.09288	.	.	.	.	.	T	0.00039	0.0001	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.12041	-1.0563	9	0.02654	T	1	.	7.231	0.26043	0.0:0.4443:0.0:0.5557	.	13	Q8NGC0	O5AU1_HUMAN	V	13	ENSP00000302057:I13V	ENSP00000302057:I13V	I	-	1	0	OR5AU1	20693988	0.000000	0.05858	0.000000	0.03702	0.091000	0.18340	-0.551000	0.06027	-0.142000	0.11354	-1.302000	0.01329	ATA		0.448	OR5AU1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410213.1			12	148	0	0	0	0.080935	0	12	148					C	21624148	T	C	21624148	3	2	93	1	0	0	0	0	1	0	0	0	11147	1493	52	4	1054	4	OR5AU1	14	21624148	Missense_Mutation	SNP	T	TCGA-EJ-7781-01A-11D-2114-08		21624148	85725392	49	4798											
RNF31	55072	broad.mit.edu	37	chr14	24618082	24618082	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ccctcaccacaccctctgtcCcaggtattattggtcctaaa	9	11	5	16	0	2	0	1	0	1	0	4	0	4	0	5	2	0	1	5	2	4	4			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	9815ad1d-4855-4da4-839c-ffcf705347d3	g.chr14:24618082C>A	ENST00000324103.6	+	5	948	c.628C>A	c.(628-630)Cca>Aca	p.P210T	RNF31_ENST00000382687.3_Missense_Mutation_p.P59T|RP11-468E2.4_ENST00000558468.1_5'Flank|PSME2_ENST00000471700.2_5'Flank|RNF31_ENST00000557878.1_3'UTR|PSME2_ENST00000216802.5_5'Flank|PSME2_ENST00000560410.1_5'Flank|RNF31_ENST00000559275.1_Missense_Mutation_p.P59T	NM_017999.4	NP_060469.4	Q96EP0	RNF31_HUMAN	ring finger protein 31	210	Polyubiquitin-binding.				CD40 signaling pathway (GO:0023035)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein linear polyubiquitination (GO:0097039)|protein polyubiquitination (GO:0000209)|T cell receptor signaling pathway (GO:0050852)	CD40 receptor complex (GO:0035631)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|LUBAC complex (GO:0071797)	ligase activity (GO:0016874)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|prostate(4)|skin(2)|soft_tissue(1)	39				GBM - Glioblastoma multiforme(265;0.00861)		ACCCTCTGTCCCAGGTATTAT	0.458																																						ENST00000324103.6																			0				breast(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|prostate(4)|skin(2)|soft_tissue(1)	39						c.(628-630)Cca>Aca		ring finger protein 31							168	167	168					14																	24618082		1879	4112	5991	SO:0001583	missense	55072				CD40 signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protein linear polyubiquitination|T cell receptor signaling pathway	CD40 receptor complex|internal side of plasma membrane|LUBAC complex	ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr14:24618082C>A	AK000973	CCDS41931.1	14q11.2	2012-09-20			ENSG00000092098	ENSG00000092098		"RING-type (C3HC4) zinc fingers"	16031	protein-coding gene	gene with protein product	"HOIL-1-interacting protein"	612487				10422847	Standard	NM_017999		Approved	ZIBRA, FLJ10111, FLJ23501, HOIP	uc001wmn.1	Q96EP0	OTTHUMG00000028798	ENST00000324103.6:c.628C>A	14.37:g.24618082C>A	ENSP00000315112:p.Pro210Thr					RNF31_ENST00000559275.1_Missense_Mutation_p.P59T|RNF31_ENST00000557878.1_3'UTR|RNF31_ENST00000382687.3_Missense_Mutation_p.P59T	p.P210T	NM_017999.4	NP_060469.4	Q96EP0	RNF31_HUMAN		GBM - Glioblastoma multiforme(265;0.00861)	5	948	+			210			Polyubiquitin-binding.		A0A962|Q86VI2|Q8TEI0|Q96GB4|Q96NF1|Q9H5F1|Q9NWD2	Missense_Mutation	SNP	ENST00000324103.6	37	c.628C>A	CCDS41931.1	.	.	.	.	.	.	.	.	.	.	C	12.02	1.812278	0.32053	.	.	ENSG00000092098	ENST00000324103;ENST00000382687	T;T	0.44482	0.93;0.92	4.5	1.6	0.23607	.	1.479250	0.03502	N	0.218171	T	0.20780	0.0500	N	0.04508	-0.205	0.21802	N	0.999532	B;B;B	0.16166	0.016;0.002;0.001	B;B;B	0.14578	0.011;0.001;0.004	T	0.14504	-1.0470	10	0.25751	T	0.34	-12.763	2.9473	0.05850	0.1854:0.5356:0.1794:0.0996	.	25;210;59	B3KV71;Q96EP0;Q96EP0-3	.;RNF31_HUMAN;.	T	210;59	ENSP00000315112:P210T;ENSP00000372134:P59T	ENSP00000315112:P210T	P	+	1	0	RNF31	23687922	0.001000	0.12720	0.948000	0.38648	0.981000	0.71138	0.100000	0.15231	0.151000	0.19162	0.561000	0.74099	CCA		0.458	RNF31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071921.3	NM_017999		16	171	1	0	0.000566183	0.160694	0.000618332	16	171					A	24618082	C	A	24618082	3	1	93	1	0	0	0	0	1	0	0	0	13487	623	22	5	646	5	RNF31	14	24618082	Missense_Mutation	SNP	C	TCGA-EJ-7781-01A-11D-2114-08	2993934	24618082	82731458	50	4799											
RHOJ	57381	broad.mit.edu	37	chr14	63671716	63671716	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctgctgatgagctacgccaaCgacgccttcccagaggaata	11	7	10	13	3	0	3	0	2	0	1	1	5	1	4	3	1	4	2	3	1	4	3			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	9815ad1d-4855-4da4-839c-ffcf705347d3	g.chr14:63671716C>T	ENST00000316754.3	+	1	591	c.129C>T	c.(127-129)aaC>aaT	p.N43N	RHOJ_ENST00000555125.1_Silent_p.N43N|RHOJ_ENST00000557133.1_3'UTR	NM_020663.4	NP_065714.1	Q9H4E5	RHOJ_HUMAN	ras homolog family member J	43					actin cytoskeleton organization (GO:0030036)|GTP catabolic process (GO:0006184)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|retina vasculature morphogenesis in camera-type eye (GO:0061299)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|upper_aerodigestive_tract(1)	21				OV - Ovarian serous cystadenocarcinoma(108;0.00326)|all cancers(60;0.031)|BRCA - Breast invasive adenocarcinoma(234;0.119)		GCTACGCCAACGACGCCTTCC	0.572																																						ENST00000316754.3																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|upper_aerodigestive_tract(1)	21						c.(127-129)aaC>aaT		ras homolog family member J							131	103	112					14																	63671716		2203	4300	6503	SO:0001819	synonymous_variant	57381				actin cytoskeleton organization|regulation of cell shape|regulation of small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding|GTPase activity	g.chr14:63671716C>T	AK027351	CCDS9757.1	14q23.1	2012-02-27	2012-02-27	2004-03-24	ENSG00000126785	ENSG00000126785			688	protein-coding gene	gene with protein product		607653	"RAS-like, family 7, member B", "ras homolog gene family, member J"	RASL7B, ARHJ		10967094	Standard	NM_020663		Approved	FLJ14445, TCL	uc001xgb.2	Q9H4E5	OTTHUMG00000140342	ENST00000316754.3:c.129C>T	14.37:g.63671716C>T						RHOJ_ENST00000557133.1_3'UTR|RHOJ_ENST00000555125.1_Silent_p.N43N	p.N43N	NM_020663.4	NP_065714.1	Q9H4E5	RHOJ_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00326)|all cancers(60;0.031)|BRCA - Breast invasive adenocarcinoma(234;0.119)	1	591	+			43					Q96KC1	Silent	SNP	ENST00000316754.3	37	c.129C>T	CCDS9757.1																																																																																				0.572	RHOJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276975.3			7	50	0	0	0	0.047766	0	7	50					T	63671716	C	T	63671716	2	4	93	1	0	0	0	0	0	0	0	1	13341	535	19	1		1	RHOJ	14	63671716	Silent	SNP	C	TCGA-EJ-7781-01A-11D-2114-08	39053634	63671716	43677824	51	4800											
SPTB	6710	broad.mit.edu	37	chr14	65246524	65246524	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcctccttcctaggggttcCaggaggtccaggaaccgctt	6	11	11	13	1	0	0	0	0	0	0	5	2	5	2	6	5	1	2	6	5	2	5			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	9815ad1d-4855-4da4-839c-ffcf705347d3	g.chr14:65246524C>T	ENST00000389721.5	-	20	4424	c.4392G>A	c.(4390-4392)ctG>ctA	p.L1464L	SPTB_ENST00000542895.1_Silent_p.L1464L|SPTB_ENST00000389720.3_Silent_p.L1464L|SPTB_ENST00000556626.1_Silent_p.L1464L|SPTB_ENST00000389722.3_Silent_p.L1464L	NM_000347.5	NP_000338.3	P11277	SPTB1_HUMAN	spectrin, beta, erythrocytic	1464					actin filament capping (GO:0051693)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)	actin cytoskeleton (GO:0015629)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|protein complex (GO:0043234)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ankyrin binding (GO:0030506)|structural constituent of cytoskeleton (GO:0005200)			breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		CTAGGGGTTCCAGGAGGTCCA	0.582																																						ENST00000389722.3																			0				breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106						c.(4390-4392)ctG>ctA		spectrin, beta, erythrocytic							142	133	136					14																	65246524		2203	4300	6503	SO:0001819	synonymous_variant	6710				actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton	g.chr14:65246524C>T		CCDS32099.1, CCDS32100.1	14q24.1-q24.2	2013-01-10	2008-07-29			ENSG00000070182		"Pleckstrin homology (PH) domain containing"	11274	protein-coding gene	gene with protein product	"spherocytosis, clinical type I"	182870				2209094	Standard	NM_001024858		Approved		uc001xhr.3	P11277		ENST00000389721.5:c.4392G>A	14.37:g.65246524C>T						SPTB_ENST00000542895.1_Silent_p.L1464L|SPTB_ENST00000389720.3_Silent_p.L1464L|SPTB_ENST00000389721.5_Silent_p.L1464L|SPTB_ENST00000556626.1_Silent_p.L1464L	p.L1464L	NM_001024858.2	NP_001020029.1	P11277	SPTB1_HUMAN		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)	20	4445	-		all_lung(585;4.15e-09)	1464					Q15510|Q15519	Silent	SNP	ENST00000389721.5	37	c.4392G>A	CCDS32100.1																																																																																				0.582	SPTB-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000414080.1			6	133	0	0	0	0.021553	0	6	133					T	65246524	C	T	65246524	2	4	93	1	0	0	0	0	0	0	0	1	15117	581	21	3		3	SPTB	14	65246524	Silent	SNP	C	TCGA-EJ-7781-01A-11D-2114-08	1574808	65246524	42103016	52	4801											
IQGAP1	8826	broad.mit.edu	37	chr15	91040570	91040570	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agacttttatgttacattatCaggtgggtatgcaccagcag	11	13	10	7	0	1	1	1	0	0	1	1	1	1	1	1	2	3	4	1	2	4	5			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	9815ad1d-4855-4da4-839c-ffcf705347d3	g.chr15:91040570C>T	ENST00000268182.5	+	37	4982	c.4858C>T	c.(4858-4860)Cag>Tag	p.Q1620*	IQGAP1_ENST00000560738.1_Nonsense_Mutation_p.Q1048*	NM_003870.3	NP_003861.1	P46940	IQGA1_HUMAN	IQ motif containing GTPase activating protein 1	1620	C2.				cellular response to calcium ion (GO:0071277)|cellular response to epidermal growth factor stimulus (GO:0071364)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|glomerular visceral epithelial cell development (GO:0072015)|negative regulation of catalytic activity (GO:0043086)|negative regulation of dephosphorylation (GO:0035305)|neuron projection extension (GO:1990138)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|regulation of cytokine production (GO:0001817)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	actin filament (GO:0005884)|axon (GO:0030424)|cell junction (GO:0030054)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|extracellular vesicular exosome (GO:0070062)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|lateral plasma membrane (GO:0016328)|microtubule (GO:0005874)|midbody (GO:0030496)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|slit diaphragm (GO:0036057)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|GTPase activator activity (GO:0005096)|GTPase inhibitor activity (GO:0005095)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|protein serine/threonine kinase activator activity (GO:0043539)|Ras GTPase activator activity (GO:0005099)			breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	Melanoma(11;0.00551)|Lung NSC(78;0.0237)|all_lung(78;0.0488)		BRCA - Breast invasive adenocarcinoma(143;0.0745)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)			GTTACATTATCAGGTGGGTAT	0.388																																						ENST00000268182.5																			0				breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59						c.(4858-4860)Cag>Tag		IQ motif containing GTPase activating protein 1							50	49	49					15																	91040570		2198	4298	6496	SO:0001587	stop_gained	8826				energy reserve metabolic process|regulation of insulin secretion|small GTPase mediated signal transduction	actin filament|cytoplasm|midbody|nucleus|plasma membrane	calmodulin binding|GTPase inhibitor activity|protein phosphatase binding|Ras GTPase activator activity	g.chr15:91040570C>T	D29640	CCDS10362.1	15q26.1	2008-07-18			ENSG00000140575	ENSG00000140575			6110	protein-coding gene	gene with protein product	"RasGAP-like with IQ motifs"	603379				8051149, 8670801	Standard	XM_005254984		Approved	p195, KIAA0051, SAR1, HUMORFA01	uc002bpl.1	P46940	OTTHUMG00000149832	ENST00000268182.5:c.4858C>T	15.37:g.91040570C>T	ENSP00000268182:p.Gln1620*					IQGAP1_ENST00000560738.1_Nonsense_Mutation_p.Q1048*	p.Q1620*	NM_003870.3	NP_003861.1	P46940	IQGA1_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0745)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)		37	4982	+	Melanoma(11;0.00551)|Lung NSC(78;0.0237)|all_lung(78;0.0488)		1620			C2.		A7MBM3	Nonsense_Mutation	SNP	ENST00000268182.5	37	c.4858C>T	CCDS10362.1	.	.	.	.	.	.	.	.	.	.	C	42	9.806349	0.99268	.	.	ENSG00000140575	ENST00000268182	.	.	.	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.41790	T	0.15	-25.8823	19.6321	0.95713	0.0:1.0:0.0:0.0	.	.	.	.	X	1620	.	ENSP00000268182:Q1620X	Q	+	1	0	IQGAP1	88841574	1.000000	0.71417	1.000000	0.80357	0.909000	0.53808	7.658000	0.83755	2.884000	0.98904	0.655000	0.94253	CAG		0.388	IQGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313493.1	NM_003870		14	29	0	0	0	0.105934	0	14	29					T	91040570	C	T	91040570	4	4	93	1	0	0	0	0	0	1	0	0	7814	827	29	3	5004	3	IQGAP1	15	91040570	Nonsense_Mutation	SNP	C	TCGA-EJ-7781-01A-11D-2114-08		91040570	11490822	53	4802											
PKD1	5310	broad.mit.edu	37	chr16	2162937	2162937	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacgttgtagttcacggtgaCgttgctcacgtggttggagg	6	13	15	7	4	2	1	2	1	0	0	2	2	2	2	0	4	2	6	0	4	2	6	rs370648270		TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	9815ad1d-4855-4da4-839c-ffcf705347d3	g.chr16:2162937C>T	ENST00000262304.4	-	13	3221	c.3013G>A	c.(3013-3015)Gtc>Atc	p.V1005I	PKD1_ENST00000423118.1_Missense_Mutation_p.V1005I|RP11-304L19.4_ENST00000568795.1_RNA	NM_001009944.2	NP_001009944	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	1005	PKD 4. {ECO:0000255|PROSITE- ProRule:PRU00151}.				anatomical structure morphogenesis (GO:0009653)|branching morphogenesis of an epithelial tube (GO:0048754)|calcium ion transmembrane transport (GO:0070588)|calcium-independent cell-matrix adhesion (GO:0007161)|cartilage condensation (GO:0001502)|cartilage development (GO:0051216)|cation transmembrane transport (GO:0098655)|cell cycle arrest (GO:0007050)|cell-matrix adhesion (GO:0007160)|cytoplasmic sequestering of transcription factor (GO:0042994)|detection of mechanical stimulus (GO:0050982)|digestive tract development (GO:0048565)|embryonic placenta development (GO:0001892)|genitalia development (GO:0048806)|heart development (GO:0007507)|homophilic cell adhesion (GO:0007156)|in utero embryonic development (GO:0001701)|JAK-STAT cascade (GO:0007259)|kidney development (GO:0001822)|liver development (GO:0001889)|lung epithelium development (GO:0060428)|mesonephric duct development (GO:0072177)|mesonephric tubule development (GO:0072164)|metanephric ascending thin limb development (GO:0072218)|metanephric collecting duct development (GO:0072205)|metanephric distal tubule morphogenesis (GO:0072287)|metanephric proximal tubule development (GO:0072237)|neural tube development (GO:0021915)|neuropeptide signaling pathway (GO:0007218)|nitrogen compound metabolic process (GO:0006807)|peptidyl-serine phosphorylation (GO:0018105)|placenta blood vessel development (GO:0060674)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of protein binding (GO:0032092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein export from nucleus (GO:0006611)|regulation of mitotic spindle organization (GO:0060236)|regulation of proteasomal protein catabolic process (GO:0061136)|response to fluid shear stress (GO:0034405)|skin development (GO:0043588)|spinal cord development (GO:0021510)	basolateral plasma membrane (GO:0016323)|cilium (GO:0005929)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|motile primary cilium (GO:0031512)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|polycystin complex (GO:0002133)	calcium channel activity (GO:0005262)|carbohydrate binding (GO:0030246)|cation channel activity (GO:0005261)|ion channel binding (GO:0044325)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						TTCACGGTGACGTTGCTCACG	0.642																																						ENST00000262304.4																			0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						c.(3013-3015)Gtc>Atc		polycystic kidney disease 1 (autosomal dominant)		C	ILE/VAL,ILE/VAL	0,4394		0,0,2197	112	101	104		3013,3013	3.9	0.2	16		104	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	PKD1	NM_000296.3,NM_001009944.2	29,29	0,1,6496	TT,TC,CC		0.0116,0.0,0.0077	benign,benign	1005/4303,1005/4304	2162937	1,12993	2197	4300	6497	SO:0001583	missense	5310				calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding	g.chr16:2162937C>T	L33243	CCDS32369.1, CCDS45385.1	16p13.3	2014-01-28			ENSG00000008710	ENSG00000008710		"Voltage-gated ion channels / Transient receptor potential cation channels"	9008	protein-coding gene	gene with protein product	"polycystin 1", "transient receptor potential cation channel, subfamily P, member 1"	601313					Standard	NM_001009944		Approved	PBP, Pc-1, TRPP1	uc002cos.1	P98161	OTTHUMG00000155795	ENST00000262304.4:c.3013G>A	16.37:g.2162937C>T	ENSP00000262304:p.Val1005Ile					PKD1_ENST00000423118.1_Missense_Mutation_p.V1005I|RP11-304L19.4_ENST00000568795.1_RNA	p.V1005I	NM_001009944.2	NP_001009944.2	P98161	PKD1_HUMAN			13	3221	-			1005			PKD 4.		Q15140|Q15141	Missense_Mutation	SNP	ENST00000262304.4	37	c.3013G>A	CCDS32369.1	.	.	.	.	.	.	.	.	.	.	c	8.631	0.893743	0.17613	0.0	1.16E-4	ENSG00000008710	ENST00000262304;ENST00000423118;ENST00000306101	T;T	0.61274	0.12;0.12	4.83	3.87	0.44632	PKD/Chitinase domain (1);Polycystin cation channel (1);PKD domain (3);	0.333406	0.29328	N	0.012470	T	0.29783	0.0744	N	0.08118	0	0.20074	N	0.999931	B;B	0.29627	0.252;0.1	B;B	0.23716	0.048;0.036	T	0.16305	-1.0407	10	0.11485	T	0.65	.	8.3141	0.32088	0.1645:0.749:0.0:0.0864	.	1005;1005	P98161-3;P98161	.;PKD1_HUMAN	I	1005;1005;720	ENSP00000262304:V1005I;ENSP00000399501:V1005I	ENSP00000262304:V1005I	V	-	1	0	PKD1	2102938	0.812000	0.29077	0.250000	0.24296	0.138000	0.21146	1.396000	0.34531	1.010000	0.39314	0.645000	0.84053	GTC		0.642	PKD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341688.1			4	48	0	0	0	0.014758	0	4	48					T	2162937	C	T	2162937	3	4	93	1	0	0	0	0	1	0	0	0	11963	536	19	1	10034	1	PKD1	16	2162937	Missense_Mutation	SNP	C	TCGA-EJ-7781-01A-11D-2114-08		2162937	88191816	54	4803											
TP53	7157	broad.mit.edu	37	chr17	7576890	7576890	+	Frame_Shift_Del	DEL	T	T	-																															ctccatccagtggtttcttcTttggctggggagaggagctg																										TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	9815ad1d-4855-4da4-839c-ffcf705347d3	g.chr17:7576890delT	ENST00000269305.4	-	9	1145	c.956delA	c.(955-957)aagfs	p.K321fs	TP53_ENST00000445888.2_Frame_Shift_Del_p.K321fs|TP53_ENST00000413465.2_Intron|TP53_ENST00000455263.2_Frame_Shift_Del_p.K321fs|TP53_ENST00000420246.2_Frame_Shift_Del_p.K321fs|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000359597.4_Frame_Shift_Del_p.K321fs	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	321	Interaction with CARM1.|Interaction with HIPK1. {ECO:0000250}.|Interaction with HIPK2.		K -> E (in kidney cancer; germline mutation).|K -> R (in a sporadic cancer; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.0?(8)|p.P318fs*15(2)|p.P318fs*21(1)|p.S315fs*22(1)|p.?(1)|p.K319R(1)|p.S314fs*25(1)|p.L308fs*15(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	TGGTTTCTTCTTTGGCTGGGG	0.468		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"Mis, N, F"	tumor protein p53			"L, E, M, O"		"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"	"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"		16	Whole gene deletion(8)|Deletion - Frameshift(6)|Substitution - Missense(1)|Unknown(1)	p.0?(8)|p.P318fs*15(2)|p.P318fs*21(1)|p.S315fs*22(1)|p.?(1)|p.K319R(1)|p.S314fs*25(1)|p.L308fs*15(1)	bone(4)|breast(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|stomach(1)|lung(1)|ovary(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185						c.(955-957)agfs	Other conserved DNA damage response genes	tumor protein p53							128	118	121					17																	7576890		2203	4300	6503	SO:0001589	frameshift_variant	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7576890delT	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"Li-Fraumeni syndrome"	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.956delA	17.37:g.7576890delT	ENSP00000269305:p.Lys321fs	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_ENST00000445888.2_Frame_Shift_Del_p.K321fs|TP53_ENST00000269305.4_Frame_Shift_Del_p.K321fs|TP53_ENST00000359597.4_Frame_Shift_Del_p.K321fs|TP53_ENST00000455263.2_Frame_Shift_Del_p.K321fs|TP53_ENST00000413465.2_Intron	p.K321fs	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	9	1088	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	321		K -> E (in kidney cancer; germline mutation).|K -> R (in a sporadic cancer; somatic mutation).	Interaction with CARM1.|Interaction with HIPK1 (By similarity).|Interaction with HIPK2.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Frame_Shift_Del	DEL	ENST00000269305.4	37	c.956delA	CCDS11118.1																																																																																				0.468	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		23	40						23	40	---	---	---	---	-	7576890	T	-	7576890	7	5	93	1	0	1	0	1	0	0	0	0	16378	1609	56	0	326	0	TP53	17	7576890	Frame_Shift_Del	DEL	T	TCGA-EJ-7781-01A-11D-2114-08		7576890	73618320	55	4804											
AXIN2	8313	broad.mit.edu	37	chr17	63553974	63553974	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctcacactcgccgtggccctCagagttttgctggacaagcc	7	9	10	15	2	2	1	2	0	0	1	3	2	2	2	3	2	2	2	3	2	1	2			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	9815ad1d-4855-4da4-839c-ffcf705347d3	g.chr17:63553974C>G	ENST00000375702.5	-	1	873	c.765G>C	c.(763-765)ctG>ctC	p.L255L	AXIN2_ENST00000307078.5_Silent_p.L255L|CTD-2535L24.2_ENST00000577662.1_3'UTR			Q9Y2T1	AXIN2_HUMAN	axin 2	255					bone mineralization (GO:0030282)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to organic cyclic compound (GO:0071407)|chondrocyte differentiation involved in endochondral bone morphogenesis (GO:0003413)|dorsal/ventral axis specification (GO:0009950)|intramembranous ossification (GO:0001957)|maintenance of DNA repeat elements (GO:0043570)|mRNA stabilization (GO:0048255)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catenin import into nucleus (GO:0035414)|negative regulation of cell proliferation (GO:0008285)|negative regulation of osteoblast differentiation (GO:0045668)|odontogenesis (GO:0042476)|positive regulation of cell death (GO:0010942)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein phosphorylation (GO:0001934)|regulation of centromeric sister chromatid cohesion (GO:0070602)|regulation of chondrocyte development (GO:0061181)|regulation of mismatch repair (GO:0032423)|secondary heart field specification (GO:0003139)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|Wnt signaling pathway involved in somitogenesis (GO:0090244)	beta-catenin destruction complex (GO:0030877)|cell cortex (GO:0005938)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoplasmic microtubule (GO:0005881)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	armadillo repeat domain binding (GO:0070016)|beta-catenin binding (GO:0008013)|enzyme binding (GO:0019899)|GTPase activator activity (GO:0005096)|protein kinase binding (GO:0019901)|ubiquitin protein ligase binding (GO:0031625)			NS(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	34						CCGTGGCCCTCAGAGTTTTGC	0.547									Oligodontia, Ectodermal Dysplasia and Colorectal Polyp syndrome																													ENST00000307078.5																			0				NS(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	34						c.(763-765)ctG>ctC		axin 2							84	80	81					17																	63553974		2203	4300	6503	SO:0001819	synonymous_variant	8313	Oligodontia, Ectodermal Dysplasia and Colorectal Polyp syndrome	Familial Cancer Database	Oligodontia-Colorectal Cancer syndrome, Tooth Agenesis-Colorectal Cancer Syndrome	cellular protein localization|cellular response to organic cyclic compound|dorsal/ventral axis specification|intramembranous ossification|maintenance of DNA repeat elements|mRNA stabilization|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of cell proliferation|negative regulation of osteoblast differentiation|odontogenesis|positive regulation of cell death|positive regulation of epithelial to mesenchymal transition|positive regulation of protein phosphorylation|regulation of centromeric sister chromatid cohesion|regulation of mismatch repair|Wnt receptor signaling pathway involved in somitogenesis	Axin-APC-beta-catenin-GSK3B complex|cell cortex|centrosome|cytoplasmic membrane-bounded vesicle|cytoplasmic microtubule|nucleus|plasma membrane|postsynaptic density	armadillo repeat domain binding|beta-catenin binding|GTPase activator activity|protein kinase binding|signal transducer activity|ubiquitin protein ligase binding	g.chr17:63553974C>G	AF078165	CCDS11662.1	17q24.1	2014-09-17	2008-08-01		ENSG00000168646				904	protein-coding gene	gene with protein product	"conductin", "axil"	604025				10049590	Standard	NM_004655		Approved	MGC126582, DKFZp781B0869	uc002jfi.3	Q9Y2T1	OTTHUMG00000179353	ENST00000375702.5:c.765G>C	17.37:g.63553974C>G						CTD-2535L24.2_ENST00000577662.1_3'UTR|AXIN2_ENST00000375702.5_Silent_p.L255L	p.L255L	NM_004655.3	NP_004646.3	Q9Y2T1	AXIN2_HUMAN			2	1078	-			255					Q3MJ88|Q9H3M6|Q9UH84	Silent	SNP	ENST00000375702.5	37	c.765G>C																																																																																					0.547	AXIN2-004	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000445901.1	NM_004655		5	98	0	0	0	0.038147	0	5	98					G	63553974	C	G	63553974	2	3	93	1	0	0	0	0	0	0	0	1	1237	813	29	5		5	AXIN2	17	63553974	Silent	SNP	C	TCGA-EJ-7781-01A-11D-2114-08	55977084	63553974	17641236	56	4805											
MGAT5B	146664	broad.mit.edu	37	chr17	74928777	74928777	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcgtgtccgaggagctcaacGagacggagaagcggctcatc	10	6	14	11	5	2	2	2	0	0	2	5	6	3	3	1	3	3	2	1	3	2	0			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	9815ad1d-4855-4da4-839c-ffcf705347d3	g.chr17:74928777G>A	ENST00000569840.2	+	11	1916	c.1342G>A	c.(1342-1344)Gag>Aag	p.E448K	MGAT5B_ENST00000428789.2_Missense_Mutation_p.E459K|MGAT5B_ENST00000301618.4_Missense_Mutation_p.E448K	NM_001199172.1	NP_001186101.1	Q3V5L5	MGT5B_HUMAN	mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase, isozyme B	448					protein N-linked glycosylation (GO:0006487)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase activity (GO:0030144)|metal ion binding (GO:0046872)			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(15)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GGAGCTCAACGAGACGGAGAA	0.627																																						ENST00000569840.2																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(15)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(1342-1344)Gag>Aag		mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase, isozyme B							103	88	93					17																	74928777		2203	4300	6503	SO:0001583	missense	146664					Golgi membrane|integral to membrane	alpha-1,6-mannosyl-glycoprotein 6-beta-N-acetylglucosaminyltransferase activity|metal ion binding	g.chr17:74928777G>A	AB109185	CCDS11751.1, CCDS45788.1, CCDS59299.1	17q25.3	2013-02-25	2005-11-16		ENSG00000167889	ENSG00000167889		"Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"	24140	protein-coding gene	gene with protein product		612441	"mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase, isoenzyme B"			14617637, 14623122	Standard	NM_001199172		Approved	GnT-IX, FLJ25132, GnT-VB	uc002jth.3	Q3V5L5	OTTHUMG00000177278	ENST00000569840.2:c.1342G>A	17.37:g.74928777G>A	ENSP00000456037:p.Glu448Lys					MGAT5B_ENST00000301618.4_Missense_Mutation_p.E448K|MGAT5B_ENST00000428789.2_Missense_Mutation_p.E459K	p.E448K	NM_001199172.1	NP_001186101.1	Q3V5L5	MGT5B_HUMAN			11	1916	+			448					Q6P3S8|Q6P6B3|Q766X5|Q76D04|Q96LS2	Missense_Mutation	SNP	ENST00000569840.2	37	c.1342G>A	CCDS59299.1	.	.	.	.	.	.	.	.	.	.	G	9.749	1.166984	0.21621	.	.	ENSG00000167889	ENST00000301618;ENST00000428789	T;T	0.42513	0.98;0.97	4.29	3.2	0.36748	.	0.544240	0.17737	N	0.163692	T	0.17109	0.0411	N	0.12961	0.28	0.37894	D	0.93082	B;P	0.46656	0.259;0.882	B;B	0.33890	0.063;0.172	T	0.08330	-1.0727	10	0.09843	T	0.71	-18.128	7.833	0.29353	0.0:0.173:0.653:0.174	.	459;448	Q3V5L5-2;Q3V5L5-5	.;.	K	448;459	ENSP00000301618:E448K;ENSP00000391227:E459K	ENSP00000301618:E448K	E	+	1	0	MGAT5B	72440372	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	1.811000	0.38942	1.910000	0.55303	0.462000	0.41574	GAG		0.627	MGAT5B-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460624.2	NM_144677		6	93	0	0	0	0.02938	0	6	93					A	74928777	G	A	74928777	3	1	93	1	0	0	0	0	1	0	0	0	9549	1059	37	2	1485	2	MGAT5B	17	74928777	Missense_Mutation	SNP	G	TCGA-EJ-7781-01A-11D-2114-08	11374803	74928777	6266433	57	4806											
KIAA1543	57662	broad.mit.edu	37	chr19	7682254	7682254	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgtccccaagccgcctgccTggaagccgcgaacgggactg	8	5	13	15	4	0	0	0	0	0	0	1	3	1	2	6	2	4	0	6	2	3	0			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	9815ad1d-4855-4da4-839c-ffcf705347d3	g.chr19:7682254T>C	ENST00000160298.4	+	15	3356	c.3255T>C	c.(3253-3255)ccT>ccC	p.P1085P	CAMSAP3_ENST00000446248.2_Silent_p.P1112P	NM_020902.1	NP_065953.1	Q9P1Y5	CAMP3_HUMAN	calmodulin regulated spectrin-associated protein family, member 3	1085					epithelial cell-cell adhesion (GO:0090136)|microtubule anchoring (GO:0034453)|microtubule cytoskeleton organization (GO:0000226)|negative regulation of phosphatase activity (GO:0010923)|regulation of microtubule cytoskeleton organization (GO:0070507)|regulation of organelle organization (GO:0033043)|zonula adherens maintenance (GO:0045218)	cytoplasm (GO:0005737)|microtubule minus-end (GO:0036449)|zonula adherens (GO:0005915)	microtubule minus-end binding (GO:0051011)			cervix(1)|endometrium(7)|kidney(3)|lung(6)|urinary_tract(2)	19						GCCGCCTGCCTGGAAGCCGCG	0.637																																						ENST00000446248.2																			0				cervix(1)|endometrium(7)|kidney(3)|lung(6)|urinary_tract(2)	19						c.(3334-3336)ccT>ccC		calmodulin regulated spectrin-associated protein family, member 3							66	75	72					19																	7682254		2036	4181	6217	SO:0001819	synonymous_variant	57662				epithelial cell-cell adhesion|microtubule anchoring|regulation of microtubule cytoskeleton organization|zonula adherens maintenance	cytoplasm|microtubule|zonula adherens	microtubule minus-end binding	g.chr19:7682254T>C	AB040976	CCDS42489.1, CCDS45947.1	19p13.3-p13.2	2014-06-12	2011-08-18	2011-08-18		ENSG00000076826			29307	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 80"	612685	"KIAA1543"	KIAA1543		11318610, 10819331, 19041755, 19508979	Standard	NM_001080429		Approved	Nezha, PPP1R80	uc002mgu.4	Q9P1Y5		ENST00000160298.4:c.3255T>C	19.37:g.7682254T>C						CAMSAP3_ENST00000160298.4_Silent_p.P1085P	p.P1112P	NM_001080429.2	NP_001073898.1	Q9P1Y5	CAMP3_HUMAN			17	3437	+			1085			CKK.		Q8NDF1	Silent	SNP	ENST00000160298.4	37	c.3336T>C	CCDS42489.1																																																																																				0.637	CAMSAP3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000459300.1	XM_048362		4	68	0	0	0	0.014758	0	4	68					C	7682254	T	C	7682254	2	2	93	1	0	0	0	0	0	0	0	1	8243	1567	55	4		4	KIAA1543	19	7682254	Silent	SNP	T	TCGA-EJ-7781-01A-11D-2114-08		7682254	51446729	58	4807											
KANK2	25959	broad.mit.edu	37	chr19	11304613	11304613	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tctcgatgtcatccacgtacTtgaggaagtccaggtccagg	9	10	11	11	2	2	1	1	1	1	0	6	3	5	2	3	3	1	1	3	3	2	2			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	9815ad1d-4855-4da4-839c-ffcf705347d3	g.chr19:11304613T>C	ENST00000586659.1	-	4	457	c.143A>G	c.(142-144)aAg>aGg	p.K48R	KANK2_ENST00000589894.1_Missense_Mutation_p.K48R|KANK2_ENST00000355150.5_Missense_Mutation_p.K48R|KANK2_ENST00000432929.2_Missense_Mutation_p.K48R|KANK2_ENST00000589359.1_Missense_Mutation_p.K48R			Q63ZY3	KANK2_HUMAN	KN motif and ankyrin repeat domains 2	48	Interaction with AIFM1.				apoptotic process (GO:0006915)|negative regulation of cell proliferation (GO:0008285)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of programmed cell death (GO:0043069)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)				endometrium(2)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						ATCCACGTACTTGAGGAAGTC	0.692																																						ENST00000432929.2																			0				endometrium(2)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						c.(142-144)aAg>aGg		KN motif and ankyrin repeat domains 2							45	50	48					19																	11304613		2203	4300	6503	SO:0001583	missense	25959							g.chr19:11304613T>C	AK000011	CCDS12255.1, CCDS54219.1	19p13.2	2013-01-10	2008-01-29	2008-01-29		ENSG00000197256		"KN motif and ankyrin repeat domain containing", "Ankyrin repeat domain containing"	29300	protein-coding gene	gene with protein product		614610	"matrix-remodelling associated 3", "ankyrin repeat domain 25"	MXRA3, ANKRD25		10819331, 17996375, 19554261	Standard	NM_015493		Approved	KIAA1518	uc002mqm.3	Q63ZY3		ENST00000586659.1:c.143A>G	19.37:g.11304613T>C	ENSP00000465650:p.Lys48Arg					KANK2_ENST00000586659.1_Missense_Mutation_p.K48R|KANK2_ENST00000589894.1_Missense_Mutation_p.K48R|KANK2_ENST00000355150.5_Missense_Mutation_p.K48R|KANK2_ENST00000589359.1_Missense_Mutation_p.K48R	p.K48R	NM_001136191.2	NP_001129663.1	Q63ZY3	KANK2_HUMAN			4	503	-			48					B0I1P4|Q3KQZ3|Q6GUF5|Q9H8S4|Q9NUP0|Q9P210	Missense_Mutation	SNP	ENST00000586659.1	37	c.143A>G	CCDS12255.1	.	.	.	.	.	.	.	.	.	.	T	26.8	4.768257	0.90020	.	.	ENSG00000197256	ENST00000432929;ENST00000355150	D;D	0.84223	-1.82;-1.78	4.28	4.28	0.50868	Kank N-terminal motif (1);	0.000000	0.85682	D	0.000000	D	0.90573	0.7045	M	0.71036	2.16	0.38858	D	0.956424	D;D;D	0.71674	0.996;0.993;0.998	D;D;D	0.80764	0.99;0.985;0.994	D	0.91049	0.4877	10	0.45353	T	0.12	-22.2899	12.3987	0.55399	0.0:0.0:0.0:1.0	.	48;48;48	Q63ZY3-3;Q63ZY3;Q63ZY3-2	.;KANK2_HUMAN;.	R	48	ENSP00000395650:K48R;ENSP00000347276:K48R	ENSP00000347276:K48R	K	-	2	0	KANK2	11165613	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.443000	0.80521	1.569000	0.49696	0.379000	0.24179	AAG		0.692	KANK2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000453066.2	NM_015493		17	52	0	0	0	0.160694	0	17	52					C	11304613	T	C	11304613	3	2	93	1	0	0	0	0	1	0	0	0	7977	1609	56	4	2476	4	KANK2	19	11304613	Missense_Mutation	SNP	T	TCGA-EJ-7781-01A-11D-2114-08	3622359	11304613	47824370	59	4808											
ZNF443	10224	broad.mit.edu	37	chr19	12541355	12541355	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	catgtacctttaagttatcaTaatgaccgaaggctttccta	12	14	6	9	1	1	1	1	1	0	0	2	2	2	1	3	1	1	3	3	1	6	7			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	9815ad1d-4855-4da4-839c-ffcf705347d3	g.chr19:12541355T>A	ENST00000301547.5	-	4	1828	c.1631A>T	c.(1630-1632)tAt>tTt	p.Y544F	CTD-3105H18.16_ENST00000595562.1_Intron	NM_005815.4	NP_005806	Q9Y2A4	ZN443_HUMAN	zinc finger protein 443	544					apoptotic process (GO:0006915)|regulation of transcription, DNA-templated (GO:0006355)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(3)|endometrium(1)|kidney(1)|large_intestine(11)|lung(10)|pancreas(1)|prostate(1)	28						TAAGTTATCATAATGACCGAA	0.398																																						ENST00000301547.5																			0				breast(3)|endometrium(1)|kidney(1)|large_intestine(11)|lung(10)|pancreas(1)|prostate(1)	28						c.(1630-1632)tAt>tTt		zinc finger protein 443							121	115	117					19																	12541355		2203	4300	6503	SO:0001583	missense	10224				induction of apoptosis|regulation of transcription, DNA-dependent|response to stress|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12541355T>A	AB011414	CCDS32918.1	19p13.13	2013-01-08			ENSG00000180855	ENSG00000180855		"Zinc fingers, C2H2-type", "-"	20878	protein-coding gene	gene with protein product		606697				9731181	Standard	NM_005815		Approved	ZK1	uc002mtu.3	Q9Y2A4	OTTHUMG00000156404	ENST00000301547.5:c.1631A>T	19.37:g.12541355T>A	ENSP00000301547:p.Tyr544Phe					CTD-3105H18.16_ENST00000595562.1_Intron	p.Y544F	NM_005815.4	NP_005806.2	Q9Y2A4	ZN443_HUMAN			4	1828	-			544						Missense_Mutation	SNP	ENST00000301547.5	37	c.1631A>T	CCDS32918.1	.	.	.	.	.	.	.	.	.	.	T	0.001	-3.319572	0.00018	.	.	ENSG00000180855	ENST00000301547;ENST00000411622	T	0.07327	3.2	1.37	-2.74	0.05932	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.02418	0.0074	N	0.03967	-0.31	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.26018	-1.0115	9	0.09338	T	0.73	.	1.555	0.02583	0.2335:0.1188:0.1421:0.5056	.	544	Q9Y2A4	ZN443_HUMAN	F	544	ENSP00000301547:Y544F	ENSP00000301547:Y544F	Y	-	2	0	ZNF443	12402355	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-6.943000	0.00048	-4.451000	0.00048	-3.978000	0.00014	TAT		0.398	ZNF443-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344084.1	NM_005815		9	60	0	0	0	0.069234	0	9	60					A	12541355	T	A	12541355	3	1	93	1	0	0	0	0	1	0	0	0	17913	1406	49	5	388	5	ZNF443	19	12541355	Missense_Mutation	SNP	T	TCGA-EJ-7781-01A-11D-2114-08	1236742	12541355	46587628	60	4809											
SLC4A11	83959	broad.mit.edu	37	chr20	3214874	3214874	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tccagggaggtggccgtctcGttcaggacgatgctggcctg	5	9	16	11	3	2	0	1	0	1	0	4	3	3	2	3	5	1	2	3	5	0	1			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	9815ad1d-4855-4da4-839c-ffcf705347d3	g.chr20:3214874G>A	ENST00000380056.3	-	4	473	c.426C>T	c.(424-426)aaC>aaT	p.N142N	SLC4A11_ENST00000539553.2_Silent_p.N126N|SLC4A11_ENST00000380059.3_Silent_p.N169N	NM_032034.3	NP_114423.1	Q8NBS3	S4A11_HUMAN	solute carrier family 4, sodium borate transporter, member 11	142					bicarbonate transport (GO:0015701)|borate transmembrane transport (GO:0035445)|borate transport (GO:0046713)|cellular cation homeostasis (GO:0030003)|fluid transport (GO:0042044)|proton transport (GO:0015992)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)	bicarbonate transmembrane transporter activity (GO:0015106)|borate transmembrane transporter activity (GO:0046715)|hydrogen ion channel activity (GO:0015252)|inorganic anion exchanger activity (GO:0005452)|protein dimerization activity (GO:0046983)|sodium channel activity (GO:0005272)|symporter activity (GO:0015293)	p.N142N(1)|p.N169N(1)		breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(4)|soft_tissue(1)|urinary_tract(1)	40						TGGCCGTCTCGTTCAGGACGA	0.597																																					NSCLC(190;922 2139 10266 10292 38692)	ENST00000380059.3																			2	Substitution - coding silent(2)	p.N142N(1)|p.N169N(1)	breast(2)	breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(4)|soft_tissue(1)|urinary_tract(1)	40						c.(505-507)aaC>aaT		solute carrier family 4, sodium borate transporter, member 11							126	115	118					20																	3214874		2203	4300	6503	SO:0001819	synonymous_variant	83959				cellular cation homeostasis|fluid transport|phosphoenolpyruvate-dependent sugar phosphotransferase system	basolateral plasma membrane|integral to membrane	bicarbonate transmembrane transporter activity|borate transmembrane transporter activity|hydrogen ion channel activity|inorganic anion exchanger activity|sodium channel activity|sugar:hydrogen symporter activity	g.chr20:3214874G>A	AF336127	CCDS13052.1, CCDS54445.1, CCDS54446.1	20p13	2014-02-14	2007-08-03		ENSG00000088836	ENSG00000088836		"Solute carriers"	16438	protein-coding gene	gene with protein product		610206	"corneal endothelial dystrophy 2 (autosomal recessive)", "solute carrier family 4, sodium bicarbonate transporter-like, member 11", "corneal dystrophy and perceptive deafness 1"	CHED2, CDPD1		10843999, 11302728, 16767101	Standard	NM_001174089		Approved	dJ794I6.2, BTR1, NaBC1, FECD4	uc010zqe.2	Q8NBS3	OTTHUMG00000031740	ENST00000380056.3:c.426C>T	20.37:g.3214874G>A						SLC4A11_ENST00000474451.1_5'UTR|SLC4A11_ENST00000380056.3_Silent_p.N142N|SLC4A11_ENST00000539553.1_Silent_p.N126N	p.N169N	NM_001174090.1	NP_001167561.1	Q8NBS3	S4A11_HUMAN			5	608	-			142					B4DKC8|B4DKX9|G3V1M3|Q2TB62|Q2TB63|Q9BXF4|Q9NTW9	Silent	SNP	ENST00000380056.3	37	c.507C>T	CCDS13052.1																																																																																				0.597	SLC4A11-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000077728.1			17	97	0	0	0	0.049695	0	17	97					A	3214874	G	A	3214874	2	1	93	1	0	0	0	0	0	0	0	1	14652	1136	40	1		1	SLC4A11	20	3214874	Silent	SNP	G	TCGA-EJ-7781-01A-11D-2114-08		3214874	59810646	61	4810											
CHGB	1114	broad.mit.edu	37	chr20	5897548	5897548	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acccatcacccctgagtgccGccaagtcctgaagacgagta	11	6	9	15	2	1	3	1	2	0	1	2	4	2	3	6	0	1	1	6	0	3	1	rs139177513		TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	9815ad1d-4855-4da4-839c-ffcf705347d3	g.chr20:5897548G>A	ENST00000378961.4	+	3	377	c.173G>A	c.(172-174)cGc>cAc	p.R58H	CHGB_ENST00000488832.1_3'UTR	NM_001819.2	NP_001810.2	P05060	SCG1_HUMAN	chromogranin B (secretogranin 1)	58						extracellular region (GO:0005576)|secretory granule (GO:0030141)	hormone activity (GO:0005179)			breast(7)|kidney(2)|large_intestine(8)|lung(19)|ovary(1)|pancreas(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	47						CCTGAGTGCCGCCAAGTCCTG	0.552																																						ENST00000378961.4																			0				breast(7)|kidney(2)|large_intestine(8)|lung(19)|ovary(1)|pancreas(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	47						c.(172-174)cGc>cAc		chromogranin B (secretogranin 1)		G	HIS/ARG	0,4406		0,0,2203	123	94	104		173	5.8	1	20	dbSNP_134	104	3,8597	3.0+/-9.4	0,3,4297	yes	missense	CHGB	NM_001819.2	29	0,3,6500	AA,AG,GG		0.0349,0.0,0.0231	probably-damaging	58/678	5897548	3,13003	2203	4300	6503	SO:0001583	missense	1114					extracellular region	hormone activity	g.chr20:5897548G>A		CCDS13092.1	20p12.3	2013-09-19			ENSG00000089199	ENSG00000089199			1930	protein-coding gene	gene with protein product	"secretogranin B"	118920		SCG1		3608978	Standard	NM_001819		Approved		uc002wmg.3	P05060	OTTHUMG00000031821	ENST00000378961.4:c.173G>A	20.37:g.5897548G>A	ENSP00000368244:p.Arg58His					CHGB_ENST00000488832.1_3'UTR	p.R58H	NM_001819.2	NP_001810.2	P05060	SCG1_HUMAN			3	377	+			58					A8K021|Q59EU9|Q6IBS6|Q9BQV6|Q9UC25|Q9UJA6	Missense_Mutation	SNP	ENST00000378961.4	37	c.173G>A	CCDS13092.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.377352	0.82682	0.0	3.49E-4	ENSG00000089199	ENST00000378961;ENST00000455042	T;T	0.01947	4.54;4.54	5.79	5.79	0.91817	.	0.156902	0.42420	D	0.000716	T	0.10809	0.0264	M	0.71581	2.175	0.32531	N	0.534965	D	0.89917	1.0	D	0.85130	0.997	T	0.01015	-1.1480	10	0.72032	D	0.01	-16.1753	11.3624	0.49651	0.1143:0.0:0.8857:0.0	.	58	P05060	SCG1_HUMAN	H	58;38	ENSP00000368244:R58H;ENSP00000416643:R38H	ENSP00000368244:R58H	R	+	2	0	CHGB	5845548	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	2.571000	0.45990	2.735000	0.93741	0.655000	0.94253	CGC		0.552	CHGB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077897.2	NM_001819		20	88	0	0	0	0.055883	0	20	88					A	5897548	G	A	5897548	3	1	93	1	0	0	0	0	1	0	0	0	3339	1087	38	1	183	1	CHGB	20	5897548	Missense_Mutation	SNP	G	TCGA-EJ-7781-01A-11D-2114-08	2682674	5897548	57127972	62	4811											
PCSK2	5126	broad.mit.edu	37	chr20	17436993	17436993	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ctcattatcttcccttccagGcaaccacagatttgtacggc	9	12	6	14	1	2	1	1	0	1	1	4	1	4	1	3	2	2	2	3	2	3	5			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	9815ad1d-4855-4da4-839c-ffcf705347d3	g.chr20:17436993G>A	ENST00000262545.2	+	10	1417	c.1102G>A	c.(1102-1104)Gca>Aca	p.A368T	PCSK2_ENST00000377899.1_Splice_Site_p.A349T|PCSK2_ENST00000536609.1_Splice_Site_p.A333T	NM_002594.3	NP_002585.2	P16519	NEC2_HUMAN	proprotein convertase subtilisin/kexin type 2	368	Peptidase S8.				cellular protein metabolic process (GO:0044267)|embryo development (GO:0009790)|enkephalin processing (GO:0034230)|insulin processing (GO:0030070)|islet amyloid polypeptide processing (GO:0034231)|nervous system development (GO:0007399)|protein autoprocessing (GO:0016540)|proteolysis (GO:0006508)	dendrite (GO:0030425)|extracellular space (GO:0005615)|membrane (GO:0016020)|perikaryon (GO:0043204)|secretory granule lumen (GO:0034774)	serine-type endopeptidase activity (GO:0004252)			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|lung(17)|ovary(3)|pancreas(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	53					"""Insulin(DB00071)|Insulin Regular(DB00030)"	TCCCTTCCAGGCAACCACAGA	0.488																																						ENST00000262545.2																			0				breast(2)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|lung(17)|ovary(3)|pancreas(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	53						c.e10-1		proprotein convertase subtilisin/kexin type 2	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)						174	177	176					20																	17436993		2203	4300	6503	SO:0001630	splice_region_variant	5126				enkephalin processing|insulin processing|islet amyloid polypeptide processing	extracellular space|membrane|soluble fraction|transport vesicle	serine-type endopeptidase activity	g.chr20:17436993G>A	AK312341	CCDS13125.1, CCDS56179.1, CCDS56180.1	20p11.2	2008-08-01			ENSG00000125851	ENSG00000125851			8744	protein-coding gene	gene with protein product	"neuroendocrine convertase 2", "KEX2-like endoprotease 2"	162151		NEC2		1765368	Standard	NM_001201528		Approved	PC2, SPC2	uc002wpm.3	P16519	OTTHUMG00000031941	ENST00000262545.2:c.1102-1G>A	20.37:g.17436993G>A						PCSK2_ENST00000377899.1_Splice_Site_p.A349_splice|PCSK2_ENST00000536609.1_Splice_Site_p.A333_splice	p.A368_splice	NM_002594.3	NP_002585.2	P16519	NEC2_HUMAN			10	1417	+			368			Catalytic.		B1ANH9|B4DFQ3|Q14927|Q5JYQ1|Q8IWA8|Q9NQG3|Q9NUG1|Q9UJC6	Splice_Site	SNP	ENST00000262545.2	37	c.1101_splice	CCDS13125.1	.	.	.	.	.	.	.	.	.	.	G	26.5	4.745842	0.89663	.	.	ENSG00000125851	ENST00000377899;ENST00000262545;ENST00000536609	D;D;D	0.87571	-2.27;-2.27;-2.27	5.93	5.93	0.95920	Peptidase S8/S53, subtilisin/kexin/sedolisin (3);	0.044281	0.85682	N	0.000000	D	0.89312	0.6679	L	0.33624	1.015	0.80722	D	1	P;B	0.46578	0.88;0.132	P;B	0.59546	0.859;0.16	D	0.86973	0.2099	9	.	.	.	-17.9808	18.8972	0.92429	0.0:0.0:1.0:0.0	.	333;368	B4DFQ3;P16519	.;NEC2_HUMAN	T	349;368;333	ENSP00000367131:A349T;ENSP00000262545:A368T;ENSP00000437458:A333T	.	A	+	1	0	PCSK2	17384993	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.911000	0.87458	2.818000	0.97014	0.591000	0.81541	GCA		0.488	PCSK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078120.2	NM_002594	Missense_Mutation	15	180	0	0	0	0.132662	0	15	180					A	17436993	G	A	17436993	5	1	93	1	0	0	0	0	0	0	1	0	11601	1217	42	3	1140	3	PCSK2	20	17436993	Splice_Site	SNP	G	TCGA-EJ-7781-01A-11D-2114-08	11539445	17436993	45588527	63	4812											
MN1	4330	broad.mit.edu	37	chr22	28196380	28196380	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gttcgcccagcgcgctcataGcaggatccacagggccaggg	8	5	14	14	3	1	0	1	0	0	0	3	1	2	1	3	3	2	3	3	3	1	2			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	9815ad1d-4855-4da4-839c-ffcf705347d3	g.chr22:28196380G>A	ENST00000302326.4	-	1	1106	c.152C>T	c.(151-153)gCt>gTt	p.A51V		NM_002430.2	NP_002421.3	Q10571	MN1_HUMAN	meningioma (disrupted in balanced translocation) 1	51					intramembranous ossification (GO:0001957)					NS(1)|breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	45						CGCGCTCATAGCAGGATCCAC	0.647			T	ETV6	"AML, meningioma"																																	ENST00000302326.4				Dom	yes		22	22q13	4330	T	meningioma (disrupted in balanced translocation) 1			"L, O"	ETV6		"AML, meningioma"		0				NS(1)|breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	45						c.(151-153)gCt>gTt		meningioma (disrupted in balanced translocation) 1							55	62	60					22																	28196380		1912	4117	6029	SO:0001583	missense	4330						binding	g.chr22:28196380G>A	X82209	CCDS42998.1	22q12.1	2010-09-29			ENSG00000169184	ENSG00000169184			7180	protein-coding gene	gene with protein product	"probable tumor suppressor protein MN1"	156100	"meningioma chromosome region"	MGCR		7731706, 12569362	Standard	NM_002430		Approved	MGCR1-PEN, MGCR1	uc003adj.3	Q10571	OTTHUMG00000150975	ENST00000302326.4:c.152C>T	22.37:g.28196380G>A	ENSP00000304956:p.Ala51Val						p.A51V	NM_002430.2	NP_002421.3	Q10571	MN1_HUMAN			1	1106	-			51					A9Z1V9	Missense_Mutation	SNP	ENST00000302326.4	37	c.152C>T	CCDS42998.1	.	.	.	.	.	.	.	.	.	.	G	15.43	2.830427	0.50845	.	.	ENSG00000169184	ENST00000302326	T	0.72505	-0.66	4.74	3.69	0.42338	.	0.134339	0.49916	D	0.000132	T	0.56352	0.1979	N	0.19112	0.55	0.30923	N	0.727811	B	0.22414	0.069	B	0.21360	0.034	T	0.60255	-0.7299	10	0.59425	D	0.04	-8.1729	13.6175	0.62118	0.0:0.1574:0.8426:0.0	.	51	Q10571	MN1_HUMAN	V	51	ENSP00000304956:A51V	ENSP00000304956:A51V	A	-	2	0	MN1	26526380	1.000000	0.71417	1.000000	0.80357	0.638000	0.38207	3.083000	0.50136	1.057000	0.40506	0.462000	0.41574	GCT		0.647	MN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320737.1	NM_002430		6	81	0	0	0	0.02938	0	6	81					A	28196380	G	A	28196380	3	1	93	1	0	0	0	0	1	0	0	0	9673	971	34	3	3818	3	MN1	22	28196380	Missense_Mutation	SNP	G	TCGA-EJ-7781-01A-11D-2114-08		28196380	23108186	64	4813											
SEC14L3	266629	broad.mit.edu	37	chr22	30866203	30866203	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agtggataggtctcaccttgCggagcaaagcctccgacttc	9	9	11	12	2	1	0	1	0	1	0	4	3	2	2	3	3	3	1	3	3	2	3			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	9815ad1d-4855-4da4-839c-ffcf705347d3	g.chr22:30866203C>T	ENST00000215812.4	-	3	260	c.170G>A	c.(169-171)cGc>cAc	p.R57H	SEC14L3_ENST00000403066.1_5'UTR|SEC14L3_ENST00000415957.2_5'UTR|SEC14L3_ENST00000539629.1_5'UTR|SEC14L3_ENST00000401751.1_5'UTR|SEC14L3_ENST00000540910.1_5'UTR|SEC14L3_ENST00000402286.1_5'UTR	NM_174975.4	NP_777635.1	Q9UDX4	S14L3_HUMAN	SEC14-like 3 (S. cerevisiae)	57						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)	lipid binding (GO:0008289)|transporter activity (GO:0005215)			NS(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(3)|pancreas(1)|skin(2)|urinary_tract(1)	19					Vitamin E(DB00163)	TCTCACCTTGCGGAGCAAAGC	0.527																																					Esophageal Squamous(108;290 1516 3584 23771 37333)	ENST00000215812.4																			0				NS(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(3)|pancreas(1)|skin(2)|urinary_tract(1)	19						c.(169-171)cGc>cAc		SEC14-like 3 (S. cerevisiae)	Vitamin E(DB00163)						52	55	54					22																	30866203		2203	4300	6503	SO:0001583	missense	266629					integral to membrane|intracellular	lipid binding|transporter activity	g.chr22:30866203C>T	AY158086	CCDS13877.1, CCDS58800.1, CCDS58801.1	22q12.2	2013-09-23			ENSG00000100012	ENSG00000100012			18655	protein-coding gene	gene with protein product		612824					Standard	NM_174975		Approved	TAP2	uc003ahy.3	Q9UDX4	OTTHUMG00000151259	ENST00000215812.4:c.170G>A	22.37:g.30866203C>T	ENSP00000215812:p.Arg57His					SEC14L3_ENST00000415957.2_5'UTR|SEC14L3_ENST00000403066.1_5'UTR|SEC14L3_ENST00000402286.1_5'UTR|SEC14L3_ENST00000401751.1_5'UTR|SEC14L3_ENST00000540910.1_5'UTR|SEC14L3_ENST00000539629.1_5'UTR	p.R57H	NM_174975.4	NP_777635.1	Q9UDX4	S14L3_HUMAN			3	260	-			57					E7EN74|E9PE57|Q495V8|Q495W0|Q495W1	Missense_Mutation	SNP	ENST00000215812.4	37	c.170G>A	CCDS13877.1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.439235	0.83885	.	.	ENSG00000100012	ENST00000215812	D	0.86030	-2.06	5.31	3.2	0.36748	Phosphatidylinositol transfer protein-like, N-terminal (1);Cellular retinaldehyde-binding/triple function, N-terminal (1);	0.120057	0.64402	D	0.000018	D	0.92368	0.7578	M	0.88570	2.965	0.80722	D	1	D	0.89917	1.0	D	0.76071	0.987	D	0.92234	0.5795	10	0.87932	D	0	-8.0827	11.0954	0.48141	0.0:0.8452:0.0:0.1548	.	57	Q9UDX4	S14L3_HUMAN	H	57	ENSP00000215812:R57H	ENSP00000215812:R57H	R	-	2	0	SEC14L3	29196203	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	4.303000	0.59098	0.619000	0.30197	-0.136000	0.14681	CGC		0.527	SEC14L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321950.4	NM_174975		3	33	0	0	0	0.150653	0	3	33					T	30866203	C	T	30866203	3	4	93	1	0	0	0	0	1	0	0	0	13983	768	27	1	1072	1	SEC14L3	22	30866203	Missense_Mutation	SNP	C	TCGA-EJ-7781-01A-11D-2114-08	2669823	30866203	20438363	65	4814											
ZC3H7B	23264	broad.mit.edu	37	chr22	41735080	41735080	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcccctgttccctcacgttcTggacctgctggcccccctgg	2	10	10	19	1	2	0	1	0	1	0	3	1	3	1	7	3	1	3	7	3	0	2			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	9815ad1d-4855-4da4-839c-ffcf705347d3	g.chr22:41735080T>G	ENST00000352645.4	+	9	958	c.701T>G	c.(700-702)cTg>cGg	p.L234R	ZC3H7B_ENST00000351589.4_Missense_Mutation_p.L234R	NM_017590.4	NP_060060.3	Q9UGR2	Z3H7B_HUMAN	zinc finger CCCH-type containing 7B	250					viral process (GO:0016032)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	38						CCTCACGTTCTGGACCTGCTG	0.667																																						ENST00000352645.4																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	38						c.(700-702)cTg>cGg		zinc finger CCCH-type containing 7B							108	99	102					22																	41735080		2203	4300	6503	SO:0001583	missense	23264				interspecies interaction between organisms	nucleus	nucleic acid binding|protein binding|zinc ion binding	g.chr22:41735080T>G		CCDS14013.1	22q13.2	2013-01-10		2005-08-09	ENSG00000100403	ENSG00000100403		"Zinc fingers, CCCH-type domain containing", "Tetratricopeptide (TTC) repeat domain containing"	30869	protein-coding gene	gene with protein product						10470851, 11230166	Standard	NM_017590		Approved	RoXaN, FLJ13787, DKFZp434K0920, KIAA1031	uc003azw.4	Q9UGR2	OTTHUMG00000150969	ENST00000352645.4:c.701T>G	22.37:g.41735080T>G	ENSP00000345793:p.Leu234Arg					ZC3H7B_ENST00000351589.4_Missense_Mutation_p.L234R	p.L234R	NM_017590.4	NP_060060.3	Q9UGR2	Z3H7B_HUMAN			9	958	+			250					A7YY88|B2RCA4|Q5TFX9|Q8TBT9|Q9H8B6|Q9UGQ9|Q9UGR0|Q9UGR1|Q9UK03|Q9UPW9	Missense_Mutation	SNP	ENST00000352645.4	37	c.701T>G	CCDS14013.1	.	.	.	.	.	.	.	.	.	.	T	12.26	1.885471	0.33255	.	.	ENSG00000100403	ENST00000352645;ENST00000351589	T;T	0.12879	2.64;2.64	4.21	3.11	0.35812	.	0.385071	0.24544	N	0.037601	T	0.10380	0.0254	L	0.50333	1.59	0.32701	N	0.512889	B	0.29037	0.231	B	0.24394	0.053	T	0.08827	-1.0703	10	0.49607	T	0.09	-13.9733	2.9525	0.05866	0.3618:0.1216:0.0:0.5166	.	234	Q9UGR2-2	.	R	234	ENSP00000345793:L234R;ENSP00000263243:L234R	ENSP00000263243:L234R	L	+	2	0	ZC3H7B	40065026	0.941000	0.31946	1.000000	0.80357	0.974000	0.67602	1.391000	0.34475	1.760000	0.52011	0.459000	0.35465	CTG		0.667	ZC3H7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320696.1	NM_017590		64	133	0	0	0	0.139131	0	64	133					G	41735080	T	G	41735080	3	3	93	1	0	0	0	0	1	0	0	0	17570	1580	55	5	731	5	ZC3H7B	22	41735080	Missense_Mutation	SNP	T	TCGA-EJ-7781-01A-11D-2114-08	10868877	41735080	9569486	66	4815											
NHS	4810	broad.mit.edu	37	chrX	17750102	17750102	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttcacccagcagtaatgtgAcaacccccaacagccagagg	13	5	8	15	0	1	2	1	1	0	1	1	2	1	2	4	1	4	2	4	1	3	2			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	9815ad1d-4855-4da4-839c-ffcf705347d3	g.chrX:17750102A>G	ENST00000380060.3	+	8	4749	c.4411A>G	c.(4411-4413)Aca>Gca	p.T1471A	NHS_ENST00000398097.3_Missense_Mutation_p.T1315A	NM_198270.2	NP_938011.1	Q6T4R5	NHS_HUMAN	Nance-Horan syndrome (congenital cataracts and dental anomalies)	1492					cell differentiation (GO:0030154)|lens development in camera-type eye (GO:0002088)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|tight junction (GO:0005923)				breast(5)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(26)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	71	Hepatocellular(33;0.183)					CAGTAATGTGACAACCCCCAA	0.493													A|||	1	0.000264901	0	0	3775	,	,		13817	0		0.001	False		,,,				2504	0					ENST00000380060.3																			0				breast(5)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(26)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	71						c.(4411-4413)Aca>Gca		Nance-Horan syndrome (congenital cataracts and dental anomalies)							155	139	144					X																	17750102		2203	4300	6503	SO:0001583	missense	4810					nucleus		g.chrX:17750102A>G		CCDS14181.1, CCDS48087.1	Xp22.3-p21.1	2014-06-18			ENSG00000188158	ENSG00000188158			7820	protein-coding gene	gene with protein product		300457					Standard	NM_001136024		Approved		uc004cxx.3	Q6T4R5	OTTHUMG00000022799	ENST00000380060.3:c.4411A>G	X.37:g.17750102A>G	ENSP00000369400:p.Thr1471Ala					NHS_ENST00000398097.3_Missense_Mutation_p.T1315A	p.T1471A	NM_198270.2	NP_938011.1	Q6T4R5	NHS_HUMAN			8	4749	+	Hepatocellular(33;0.183)		1471					B7ZVX8|E2DH69|Q5J7Q0|Q5J7Q1|Q68DR5	Missense_Mutation	SNP	ENST00000380060.3	37	c.4411A>G	CCDS14181.1	.	.	.	.	.	.	.	.	.	.	A	4.735	0.136658	0.09032	.	.	ENSG00000188158	ENST00000380060;ENST00000398097;ENST00000380057	T;T	0.42900	0.96;0.97	5.79	2.75	0.32379	.	0.206630	0.51477	D	0.000098	T	0.21062	0.0507	L	0.27053	0.805	0.09310	N	0.999993	B;B;B;B	0.19445	0.004;0.002;0.002;0.036	B;B;B;B	0.15484	0.006;0.004;0.004;0.013	T	0.14337	-1.0476	10	0.08599	T	0.76	-17.4979	4.2222	0.10563	0.4755:0.3247:0.1998:0.0	.	1492;1313;1315;1471	B7ZVX8;C9IYM8;Q6T4R5-2;Q6T4R5	.;.;.;NHS_HUMAN	A	1471;1315;1313	ENSP00000369400:T1471A;ENSP00000381170:T1315A	ENSP00000369397:T1313A	T	+	1	0	NHS	17660023	0.000000	0.05858	0.532000	0.27989	0.145000	0.21501	0.191000	0.17076	1.946000	0.56461	0.486000	0.48141	ACA		0.493	NHS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059120.1	NM_198270		14	82	0	0	0	0.132662	0	14	82					G	17750102	A	G	17750102	3	3	93	1	0	0	0	0	1	0	0	0	10411	275	10	4	4546	4	NHS	23	17750102	Missense_Mutation	SNP	A	TCGA-EJ-7781-01A-11D-2114-08		17750102	137520458	67	4816											
STARD8	9754	broad.mit.edu	37	chrX	67937307	67937307	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgcccccagctcgagtgaccGgcccctcctcagccccaccc	5	5	8	23	2	1	1	1	1	0	0	3	2	2	1	9	1	3	1	9	1	0	0			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	9815ad1d-4855-4da4-839c-ffcf705347d3	g.chrX:67937307G>A	ENST00000252336.6	+	5	683	c.311G>A	c.(310-312)cGg>cAg	p.R104Q	STARD8_ENST00000374599.3_Missense_Mutation_p.R184Q|STARD8_ENST00000374597.3_Missense_Mutation_p.R104Q	NM_014725.4	NP_055540.2	Q92502	STAR8_HUMAN	StAR-related lipid transfer (START) domain containing 8	104					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell junction (GO:0030054)|cytosol (GO:0005829)	GTPase activator activity (GO:0005096)|lipid binding (GO:0008289)			NS(2)|breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	50						TCGAGTGACCGGCCCCTCCTC	0.637																																						ENST00000252336.6																			0				NS(2)|breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	50						c.(310-312)cGg>cAg		StAR-related lipid transfer (START) domain containing 8							46	42	44					X																	67937307		2203	4299	6502	SO:0001583	missense	9754				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion	GTPase activator activity	g.chrX:67937307G>A	D80011	CCDS14390.1, CCDS48134.1	Xq13.1	2011-09-13	2007-08-16		ENSG00000130052	ENSG00000130052		"Rho GTPase activating proteins", "StAR-related lipid transfer (START) domain containing"	19161	protein-coding gene	gene with protein product		300689	"START domain containing 8"			8724849	Standard	NM_001142504		Approved	KIAA0189, ARHGAP38	uc004dxb.3	Q92502	OTTHUMG00000021748	ENST00000252336.6:c.311G>A	X.37:g.67937307G>A	ENSP00000252336:p.Arg104Gln					STARD8_ENST00000374597.3_Missense_Mutation_p.R104Q|STARD8_ENST00000374599.3_Missense_Mutation_p.R184Q	p.R104Q	NM_014725.4	NP_055540.2	Q92502	STAR8_HUMAN			5	683	+			104					A8K6T2|D3DVT9|Q5JST0|Q68DG7	Missense_Mutation	SNP	ENST00000252336.6	37	c.311G>A	CCDS14390.1	.	.	.	.	.	.	.	.	.	.	g	0.010	-1.783780	0.00628	.	.	ENSG00000130052	ENST00000252336;ENST00000374599;ENST00000374597	T;T;T	0.08008	3.14;3.15;3.14	4.06	-6.64	0.01801	.	1.910640	0.02498	N	0.090183	T	0.01627	0.0052	N	0.00347	-1.61	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.42531	-0.9446	10	0.19590	T	0.45	.	1.8383	0.03144	0.4914:0.1289:0.2501:0.1296	.	184;104	Q92502-2;Q92502	.;STAR8_HUMAN	Q	104;184;104	ENSP00000252336:R104Q;ENSP00000363727:R184Q;ENSP00000363725:R104Q	ENSP00000252336:R104Q	R	+	2	0	STARD8	67854032	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-1.134000	0.03228	-0.763000	0.04658	-0.386000	0.06593	CGG		0.637	STARD8-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057026.2	NM_014725		8	26	0	0	0	0.069234	0	8	26					A	67937307	G	A	67937307	3	1	93	1	0	0	0	0	1	0	0	0	15262	1116	39	2	573	2	STARD8	23	67937307	Missense_Mutation	SNP	G	TCGA-EJ-7781-01A-11D-2114-08	50187205	67937307	87333253	68	4817											
GABRE	2564	broad.mit.edu	37	chrX	151124292	151124292	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aaggcaacatagccaaaccgCctgctcacattgaagaaaat	17	6	7	11	1	1	2	1	1	0	1	1	2	1	2	3	1	4	2	3	1	7	2			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	9815ad1d-4855-4da4-839c-ffcf705347d3	g.chrX:151124292C>G	ENST00000370328.3	-	7	878	c.825G>C	c.(823-825)agG>agC	p.R275S	GABRE_ENST00000370325.1_Missense_Mutation_p.R275S|AF274855.1_ENST00000582865.1_RNA|GABRE_ENST00000483564.1_5'UTR|MIR224_ENST00000384889.1_RNA	NM_004961.3	NP_004952.2	P78334	GBRE_HUMAN	gamma-aminobutyric acid (GABA) A receptor, epsilon	275					gamma-aminobutyric acid signaling pathway (GO:0007214)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|skin(1)	27	Acute lymphoblastic leukemia(192;6.56e-05)				Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	AGCCAAACCGCCTGCTCACAT	0.488																																						ENST00000370325.1																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|skin(1)	27						c.(823-825)agG>agC		gamma-aminobutyric acid (GABA) A receptor, epsilon							171	133	146					X																	151124292		2203	4300	6503	SO:0001583	missense	2564				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chrX:151124292C>G	Y09765	CCDS14703.1	Xq28	2012-06-22			ENSG00000102287	ENSG00000102287		"GABA receptors", "Ligand-gated ion channels / GABA(A) receptors"	4085	protein-coding gene	gene with protein product	"GABA(A) receptor, epsilon"	300093				9039914, 9084408	Standard	NM_004961		Approved		uc004ffi.3	P78334	OTTHUMG00000024176	ENST00000370328.3:c.825G>C	X.37:g.151124292C>G	ENSP00000359353:p.Arg275Ser					GABRE_ENST00000370328.3_Missense_Mutation_p.R275S|GABRE_ENST00000483564.1_5'UTR	p.R275S			P78334	GBRE_HUMAN			7	878	-	Acute lymphoblastic leukemia(192;6.56e-05)		275					E7ET93|O15345|O15346|Q6PCD2|Q99520	Missense_Mutation	SNP	ENST00000370328.3	37	c.825G>C	CCDS14703.1	.	.	.	.	.	.	.	.	.	.	C	15.72	2.917561	0.52546	.	.	ENSG00000102287	ENST00000370328;ENST00000370325	D;D	0.93133	-3.17;-3.17	5.8	3.03	0.35002	Neurotransmitter-gated ion-channel ligand-binding (3);	0.000000	0.64402	D	0.000003	D	0.96525	0.8866	M	0.92219	3.285	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.94079	0.7342	10	0.87932	D	0	.	4.7808	0.13201	0.0:0.584:0.1542:0.2619	.	275	P78334	GBRE_HUMAN	S	275	ENSP00000359353:R275S;ENSP00000359350:R275S	ENSP00000359350:R275S	R	-	3	2	GABRE	150874948	0.138000	0.22547	0.083000	0.20561	0.858000	0.48976	0.628000	0.24522	0.205000	0.20568	-0.344000	0.07964	AGG		0.488	GABRE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060903.1	NM_004961, NM_021990, NM_021984		13	50	0	0	0	0.132662	0	13	50					G	151124292	C	G	151124292	3	3	93	1	0	0	0	0	1	0	0	0	6170	738	26	5	707	5	GABRE	23	151124292	Missense_Mutation	SNP	C	TCGA-EJ-7781-01A-11D-2114-08	83186985	151124292	4146268	69	4818											
BRCC3	79184	broad.mit.edu	37	chrX	154305487	154305487	+	Frame_Shift_Del	DEL	T	T	-																															acattcattctgtcatcatcTtacgacgttctgataagagg																										TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	9815ad1d-4855-4da4-839c-ffcf705347d3	g.chrX:154305487delT	ENST00000369462.1	+	4	263	c.238delT	c.(238-240)ttafs	p.L80fs	MTCP1_ENST00000362018.2_Intron|BRCC3_ENST00000369459.2_Frame_Shift_Del_p.L80fs|BRCC3_ENST00000340647.4_Frame_Shift_Del_p.L81fs|BRCC3_ENST00000330045.7_Frame_Shift_Del_p.L80fs|BRCC3_ENST00000399042.1_Frame_Shift_Del_p.L80fs	NM_024332.3	NP_077308.1	P46736	BRCC3_HUMAN	BRCA1/BRCA2-containing complex, subunit 3	80	MPN.				double-strand break repair (GO:0006302)|G2 DNA damage checkpoint (GO:0031572)|histone H2A K63-linked deubiquitination (GO:0070537)|positive regulation of DNA repair (GO:0045739)|protein K63-linked deubiquitination (GO:0070536)|regulation of catalytic activity (GO:0050790)|response to ionizing radiation (GO:0010212)|response to X-ray (GO:0010165)	BRCA1-A complex (GO:0070531)|BRISC complex (GO:0070552)|nuclear ubiquitin ligase complex (GO:0000152)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	enzyme regulator activity (GO:0030234)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|polyubiquitin binding (GO:0031593)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|pancreas(1)|skin(1)	22	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					TGTCATCATCTTACGACGTTC	0.433																																						ENST00000369462.1																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|pancreas(1)|skin(1)	22						c.(238-240)tafs		BRCA1/BRCA2-containing complex, subunit 3							115	98	103					X																	154305487		1876	4099	5975	SO:0001589	frameshift_variant	79184				double-strand break repair|G2/M transition DNA damage checkpoint|histone H2A K63-linked deubiquitination|positive regulation of DNA repair|response to X-ray	BRCA1-A complex|BRISC complex|nuclear ubiquitin ligase complex	enzyme regulator activity|metal ion binding|metallopeptidase activity|polyubiquitin binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chrX:154305487delT	X64643	CCDS56610.1, CCDS56611.1, CCDS56612.1	Xq28	2013-05-29	2005-11-21	2005-11-21	ENSG00000185515	ENSG00000185515			24185	protein-coding gene	gene with protein product	"Lys-63-specific deubiquitinase"	300617	"chromosome X open reading frame 53"	CXorf53		1303175, 14636569	Standard	NM_024332		Approved	C6.1A, BRCC36	uc004fna.3	P46736	OTTHUMG00000022658	ENST00000369462.1:c.238delT	X.37:g.154305487delT	ENSP00000358474:p.Leu80fs					MTCP1_ENST00000362018.2_Intron|BRCC3_ENST00000330045.7_Frame_Shift_Del_p.L80fs|BRCC3_ENST00000340647.4_Frame_Shift_Del_p.L81fs|BRCC3_ENST00000399042.1_Frame_Shift_Del_p.L80fs|BRCC3_ENST00000369459.2_Frame_Shift_Del_p.L80fs	p.L80fs	NM_024332.3	NP_077308.1	P46736	BRCC3_HUMAN			4	263	+	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)		80					A6QRF8|A6QRF9|A8MUX5|A8MWH0|A9Z1Y0|A9Z1Y5|B1B062|B4DQN7|Q16107|Q53YX5|Q9BTZ6	Frame_Shift_Del	DEL	ENST00000369462.1	37	c.238delT	CCDS56611.1																																																																																				0.433	BRCC3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058788.4	NM_024332		21	23						21	23	---	---	---	---	-	154305487	T	-	154305487	7	5	93	1	0	1	0	1	0	0	0	0	1500	1606	56	0	252	0	BRCC3	23	154305487	Frame_Shift_Del	DEL	T	TCGA-EJ-7781-01A-11D-2114-08	3181195	154305487	965073	70	4819											
ISG15	9636	broad.mit.edu	37	chr1	949846	949846	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaggcggcacagagcctggCgggcggagctaagggcctcc	7	3	19	12	3	0	1	0	0	0	1	1	3	1	3	3	7	2	2	3	7	1	1	rs190639525	byFrequency	TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr1:949846C>T	ENST00000379389.4	+	2	637	c.486C>T	c.(484-486)ggC>ggT	p.G162G	RP11-54O7.11_ENST00000458555.1_RNA	NM_005101.3	NP_005092.1	P05161	ISG15_HUMAN	ISG15 ubiquitin-like modifier	162					cytokine-mediated signaling pathway (GO:0019221)|defense response to bacterium (GO:0042742)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|ISG15-protein conjugation (GO:0032020)|modification-dependent protein catabolic process (GO:0019941)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of type I interferon production (GO:0032480)|negative regulation of viral genome replication (GO:0045071)|positive regulation of erythrocyte differentiation (GO:0045648)|regulation of interferon-gamma production (GO:0032649)|response to type I interferon (GO:0034340)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular region (GO:0005576)	protein tag (GO:0031386)			endometrium(1)|lung(1)|upper_aerodigestive_tract(1)	3	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;4.05e-38)|OV - Ovarian serous cystadenocarcinoma(86;4.54e-23)|Colorectal(212;5.37e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00238)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.199)		CAGAGCCTGGCGGGCGGAGCT	0.637													C|||	3	0.000599042	8e-04	0	5008	,	,		17006	0.002		0	False		,,,				2504	0					ENST00000379389.4																			0				endometrium(1)|lung(1)|upper_aerodigestive_tract(1)	3						c.(484-486)ggC>ggT		ISG15 ubiquitin-like modifier		C		0,4368		0,0,2184	24	27	26		486	-4.5	0	1		26	1,8549		0,1,4274	no	coding-synonymous	ISG15	NM_005101.3		0,1,6458	TT,TC,CC		0.0117,0.0,0.0077		162/166	949846	1,12917	2184	4275	6459	SO:0001819	synonymous_variant	9636				cell-cell signaling|interspecies interaction between organisms|ISG15-protein conjugation|negative regulation of type I interferon production|response to virus|type I interferon-mediated signaling pathway	cytosol|extracellular space	protein binding	g.chr1:949846C>T	BC009507	CCDS6.1	1p36.33	2008-02-05	2006-04-28	2006-04-28	ENSG00000187608	ENSG00000187608			4053	protein-coding gene	gene with protein product		147571	"interferon, alpha-inducible protein (clone IFI-15K)"	G1P2		3087979	Standard	NM_005101		Approved	IFI15, UCRP	uc001acj.4	P05161	OTTHUMG00000040777	ENST00000379389.4:c.486C>T	1.37:g.949846C>T							p.G162G	NM_005101.3	NP_005092.1	P05161	ISG15_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;4.05e-38)|OV - Ovarian serous cystadenocarcinoma(86;4.54e-23)|Colorectal(212;5.37e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00238)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.199)	2	637	+	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)	162					Q5SVA4|Q7Z2G2|Q96GF0	Silent	SNP	ENST00000379389.4	37	c.486C>T	CCDS6.1																																																																																				0.637	ISG15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097989.1	NM_005101		12	37	0	0	0	1	0	12	37					T	949846	C	T	949846	2	4	94	1	0	0	0	0	0	0	0	1	7853	755	27	1		1	ISG15	1	949846	Silent	SNP	C	TCGA-EJ-7782-01A-11D-2114-08		949846	248300775	1	4820											
MEGF6	1953	broad.mit.edu	37	chr1	3427388	3427388	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cactgagccggtagccggcgTagcagccgcactcgtacccg	7	5	13	16	6	0	1	0	1	0	0	1	1	0	1	4	2	5	5	4	2	3	3			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr1:3427388T>C	ENST00000356575.4	-	10	1419	c.1193A>G	c.(1192-1194)tAc>tGc	p.Y398C	MEGF6_ENST00000294599.4_Missense_Mutation_p.Y293C	NM_001409.3	NP_001400.3	O75095	MEGF6_HUMAN	multiple EGF-like-domains 6	398	EGF-like 7. {ECO:0000255|PROSITE- ProRule:PRU00076}.					extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			cervix(2)|endometrium(3)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_cancers(77;0.00681)|all_epithelial(69;0.00301)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.105)	all_epithelial(116;7.41e-22)|all_lung(118;8.3e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211)		Epithelial(90;3.78e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.86e-22)|GBM - Glioblastoma multiforme(42;1.96e-12)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.000448)|BRCA - Breast invasive adenocarcinoma(365;0.000779)|KIRC - Kidney renal clear cell carcinoma(229;0.00645)|STAD - Stomach adenocarcinoma(132;0.00669)|Lung(427;0.213)		GTAGCCGGCGTAGCAGCCGCA	0.682																																					Ovarian(73;978 3658)	ENST00000356575.4																			0				cervix(2)|endometrium(3)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19						c.(1192-1194)tAc>tGc		multiple EGF-like-domains 6							34	44	41					1																	3427388		2138	4234	6372	SO:0001583	missense	1953					extracellular region	calcium ion binding	g.chr1:3427388T>C	AB011539	CCDS41237.1	1p36.3	2008-02-05	2006-03-31	2006-03-31	ENSG00000162591	ENSG00000162591			3232	protein-coding gene	gene with protein product		604266	"EGF-like-domain, multiple 3"	EGFL3		9693030	Standard	NM_001409		Approved		uc001akl.3	O75095	OTTHUMG00000000611	ENST00000356575.4:c.1193A>G	1.37:g.3427388T>C	ENSP00000348982:p.Tyr398Cys					MEGF6_ENST00000294599.4_Missense_Mutation_p.Y293C	p.Y398C	NM_001409.3	NP_001400.3	O75095	MEGF6_HUMAN		Epithelial(90;3.78e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.86e-22)|GBM - Glioblastoma multiforme(42;1.96e-12)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.000448)|BRCA - Breast invasive adenocarcinoma(365;0.000779)|KIRC - Kidney renal clear cell carcinoma(229;0.00645)|STAD - Stomach adenocarcinoma(132;0.00669)|Lung(427;0.213)	10	1419	-	all_cancers(77;0.00681)|all_epithelial(69;0.00301)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.105)	all_epithelial(116;7.41e-22)|all_lung(118;8.3e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211)	398			EGF-like 7.		Q4AC86|Q5VV39	Missense_Mutation	SNP	ENST00000356575.4	37	c.1193A>G	CCDS41237.1	.	.	.	.	.	.	.	.	.	.	T	9.904	1.207579	0.22205	.	.	ENSG00000162591	ENST00000294599;ENST00000356575	D;D	0.87412	-2.25;-2.25	4.51	2.11	0.27256	Epidermal growth factor-like (1);EGF-like region, conserved site (1);	0.540004	0.19159	N	0.121247	D	0.86564	0.5963	M	0.64404	1.975	0.09310	N	1	D;P	0.62365	0.991;0.94	P;P	0.54460	0.706;0.753	T	0.76189	-0.3050	10	0.40728	T	0.16	-26.351	3.5283	0.07768	0.1744:0.1798:0.0:0.6458	.	398;293	O75095;O75095-2	MEGF6_HUMAN;.	C	293;398	ENSP00000294599:Y293C;ENSP00000348982:Y398C	ENSP00000294599:Y293C	Y	-	2	0	MEGF6	3417248	0.000000	0.05858	0.977000	0.42913	0.969000	0.65631	0.190000	0.17057	0.534000	0.28695	0.379000	0.24179	TAC		0.682	MEGF6-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354866.1	NM_001409		4	28	0	0	0	1	0	4	28					C	3427388	T	C	3427388	3	2	94	1	0	0	0	0	1	0	0	0	9462	1638	57	4	3544	4	MEGF6	1	3427388	Missense_Mutation	SNP	T	TCGA-EJ-7782-01A-11D-2114-08	2477542	3427388	245823233	2	4821											
ICMT	23463	broad.mit.edu	37	chr1	6294999	6294999	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cttagcagcgtgccgcagccGaacacaaaccccaggaaaca	14	3	9	15	3	0	0	0	0	0	0	0	2	0	1	4	1	7	2	4	1	4	1			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr1:6294999G>A	ENST00000343813.5	-	2	259	c.231C>T	c.(229-231)ttC>ttT	p.F77F	LINC00337_ENST00000429480.2_RNA|ICMT_ENST00000362035.3_Silent_p.F77F|LINC00337_ENST00000441724.1_RNA	NM_012405.3	NP_036537.1	O60725	ICMT_HUMAN	isoprenylcysteine carboxyl methyltransferase	77					C-terminal protein methylation (GO:0006481)|cellular protein modification process (GO:0006464)|in utero embryonic development (GO:0001701)|liver development (GO:0001889)|multicellular organism growth (GO:0035264)|positive regulation of cell proliferation (GO:0008284)|protein targeting to membrane (GO:0006612)|regulation of Ras protein signal transduction (GO:0046578)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	cAMP response element binding protein binding (GO:0008140)|protein C-terminal carboxyl O-methyltransferase activity (GO:0003880)|protein C-terminal S-isoprenylcysteine carboxyl O-methyltransferase activity (GO:0004671)			NS(1)|endometrium(2)	3	Ovarian(185;0.0634)	all_cancers(23;5.85e-39)|all_epithelial(116;2.4e-22)|all_lung(118;2.65e-08)|Lung NSC(185;6.45e-07)|all_neural(13;3.18e-06)|all_hematologic(16;8.99e-06)|Acute lymphoblastic leukemia(12;0.000365)|Breast(487;0.000688)|Renal(390;0.0007)|Colorectal(325;0.00104)|Glioma(11;0.00203)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0392)|Medulloblastoma(700;0.211)		Epithelial(90;5.52e-38)|GBM - Glioblastoma multiforme(13;6.51e-32)|OV - Ovarian serous cystadenocarcinoma(86;3.03e-19)|Colorectal(212;7.08e-08)|COAD - Colon adenocarcinoma(227;8.35e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|BRCA - Breast invasive adenocarcinoma(365;0.00109)|STAD - Stomach adenocarcinoma(132;0.00313)|READ - Rectum adenocarcinoma(331;0.0642)|Lung(427;0.182)		TGCCGCAGCCGAACACAAACC	0.507																																						ENST00000343813.5																			0				NS(1)|endometrium(2)	3						c.(229-231)ttC>ttT		isoprenylcysteine carboxyl methyltransferase							99	101	100					1																	6294999		2203	4300	6503	SO:0001819	synonymous_variant	23463				protein targeting to membrane	endoplasmic reticulum membrane|integral to membrane|membrane fraction	protein C-terminal S-isoprenylcysteine carboxyl O-methyltransferase activity	g.chr1:6294999G>A	AF064084	CCDS61.1	1p36	2010-04-29			ENSG00000116237	ENSG00000116237	2.1.1.100		5350	protein-coding gene	gene with protein product	"protein-S-isoprenylcysteine O-methyltransferase"	605851				9614111, 10441503	Standard	XM_005263437		Approved	PCCMT, HSTE14, PPMT	uc001amk.3	O60725	OTTHUMG00000001254	ENST00000343813.5:c.231C>T	1.37:g.6294999G>A						ICMT_ENST00000362035.3_Silent_p.F77F	p.F77F	NM_012405.3	NP_036537.1	O60725	ICMT_HUMAN		Epithelial(90;5.52e-38)|GBM - Glioblastoma multiforme(13;6.51e-32)|OV - Ovarian serous cystadenocarcinoma(86;3.03e-19)|Colorectal(212;7.08e-08)|COAD - Colon adenocarcinoma(227;8.35e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|BRCA - Breast invasive adenocarcinoma(365;0.00109)|STAD - Stomach adenocarcinoma(132;0.00313)|READ - Rectum adenocarcinoma(331;0.0642)|Lung(427;0.182)	2	259	-	Ovarian(185;0.0634)	all_cancers(23;5.85e-39)|all_epithelial(116;2.4e-22)|all_lung(118;2.65e-08)|Lung NSC(185;6.45e-07)|all_neural(13;3.18e-06)|all_hematologic(16;8.99e-06)|Acute lymphoblastic leukemia(12;0.000365)|Breast(487;0.000688)|Renal(390;0.0007)|Colorectal(325;0.00104)|Glioma(11;0.00203)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0392)|Medulloblastoma(700;0.211)	77					Q6FHT0	Silent	SNP	ENST00000343813.5	37	c.231C>T	CCDS61.1																																																																																				0.507	ICMT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000003681.1	NM_012405		19	42	0	0	0	1	0	19	42					A	6294999	G	A	6294999	2	1	94	1	0	0	0	0	0	0	0	1	7485	1049	37	2		2	ICMT	1	6294999	Silent	SNP	G	TCGA-EJ-7782-01A-11D-2114-08	2867611	6294999	242955622	3	4822											
TAS1R1	80835	broad.mit.edu	37	chr1	6634741	6634741	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agcgtgaagcggcagtatccCtctttcctgcgcaccatccc	7	9	9	16	3	1	1	0	1	1	0	4	1	4	1	4	1	3	3	4	1	2	2			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr1:6634741C>A	ENST00000333172.6	+	3	742	c.549C>A	c.(547-549)ccC>ccA	p.P183P	TAS1R1_ENST00000351136.3_Intron|TAS1R1_ENST00000328191.4_Silent_p.P183P	NM_138697.3	NP_619642.2	Q7RTX1	TS1R1_HUMAN	taste receptor, type 1, member 1	183					detection of chemical stimulus involved in sensory perception of taste (GO:0050912)|sensory perception of umami taste (GO:0050917)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein heterodimerization activity (GO:0046982)|taste receptor activity (GO:0008527)			NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(13)|ovary(1)|skin(1)|urinary_tract(2)	29	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;8.73e-34)|all_epithelial(116;9.26e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Breast(487;0.000353)|Renal(390;0.0007)|Colorectal(325;0.00104)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443)		Colorectal(212;1.29e-07)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00108)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0642)		GGCAGTATCCCTCTTTCCTGC	0.587																																						ENST00000333172.6																			0				NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(13)|ovary(1)|skin(1)|urinary_tract(2)	29						c.(547-549)ccC>ccA		taste receptor, type 1, member 1							94	89	91					1																	6634741		2203	4300	6503	SO:0001819	synonymous_variant	0				sensory perception of umami taste	plasma membrane	protein heterodimerization activity|taste receptor activity	g.chr1:6634741C>A		CCDS81.1, CCDS82.1	1p36.23	2012-08-22	2003-03-24		ENSG00000173662	ENSG00000173662		"Taste receptors / Type 1", "GPCR / Unclassified : Taste receptors"	14448	protein-coding gene	gene with protein product		606225	"G protein-coupled receptor 70"	GPR70			Standard	NM_138697		Approved	T1R1, TR1	uc001ant.3	Q7RTX1	OTTHUMG00000001441	ENST00000333172.6:c.549C>A	1.37:g.6634741C>A						TAS1R1_ENST00000328191.4_Silent_p.P183P|TAS1R1_ENST00000351136.3_Intron	p.P183P	NM_138697.3	NP_619642.2	Q7RTX1	TS1R1_HUMAN		Colorectal(212;1.29e-07)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00108)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0642)	3	742	+	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;8.73e-34)|all_epithelial(116;9.26e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Breast(487;0.000353)|Renal(390;0.0007)|Colorectal(325;0.00104)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443)	183					B2RMX0|Q5SY22|Q5SY24|Q8NGZ7|Q8TDJ7|Q8TDJ8|Q8TDJ9|Q8TDK0	Silent	SNP	ENST00000333172.6	37	c.549C>A	CCDS81.1	.	.	.	.	.	.	.	.	.	.	C	9.477	1.097257	0.20552	.	.	ENSG00000173662	ENST00000411823	D	0.90004	-2.6	5.12	-2.71	0.05986	.	0.000000	0.85682	D	0.000000	D	0.87924	0.6300	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.82448	-0.0452	7	0.87932	D	0	.	5.2121	0.15322	0.1116:0.2444:0.5006:0.1434	.	.	.	.	H	109	ENSP00000414166:P109H	ENSP00000414166:P109H	P	+	2	0	TAS1R1	6557328	0.001000	0.12720	0.616000	0.29078	0.957000	0.61999	-1.665000	0.01965	-0.459000	0.07013	0.561000	0.74099	CCT		0.587	TAS1R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004211.1			23	34	1	0	1.22574e-08	1	1.28853e-08	23	34					A	6634741	C	A	6634741	2	1	94	1	0	0	0	0	0	0	0	1	15559	668	24	5		5	TAS1R1	1	6634741	Silent	SNP	C	TCGA-EJ-7782-01A-11D-2114-08	339742	6634741	242615880	4	4823											
CLSTN1	22883	broad.mit.edu	37	chr1	9811693	9811693	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtaggacttctccttgaacaCgggcgcgtactcattcacgt	8	11	10	12	4	3	1	2	1	1	0	4	2	3	2	1	2	2	2	1	2	3	5			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr1:9811693C>T	ENST00000377298.4	-	5	1279	c.487G>A	c.(487-489)Gtg>Atg	p.V163M	CLSTN1_ENST00000361311.4_Missense_Mutation_p.V153M|CLSTN1_ENST00000377288.3_Missense_Mutation_p.V163M	NM_001009566.1	NP_001009566.1	O94985	CSTN1_HUMAN	calsyntenin 1	163	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)	cell junction (GO:0030054)|cell projection (GO:0042995)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)	beta-amyloid binding (GO:0001540)|calcium ion binding (GO:0005509)|kinesin binding (GO:0019894)|X11-like protein binding (GO:0042988)			breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(9)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	36	all_lung(157;0.222)	all_lung(284;4.03e-05)|Lung NSC(185;6.93e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|Colorectal(212;8.36e-08)|COAD - Colon adenocarcinoma(227;1.93e-05)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(304;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|STAD - Stomach adenocarcinoma(132;0.00644)|READ - Rectum adenocarcinoma(331;0.0419)		TCCTTGAACACGGGCGCGTAC	0.507																																						ENST00000377298.4																			0				breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(9)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	36						c.(487-489)Gtg>Atg		calsyntenin 1							97	86	90					1																	9811693		2203	4300	6503	SO:0001583	missense	22883				homophilic cell adhesion	cell junction|cell projection|endoplasmic reticulum membrane|Golgi membrane|integral to membrane|nucleus|postsynaptic membrane	calcium ion binding	g.chr1:9811693C>T	AB020718	CCDS105.1, CCDS30580.1	1p36.22	2011-07-01			ENSG00000171603	ENSG00000171603		"Cadherins / Cadherin-related"	17447	protein-coding gene	gene with protein product	"cadherin-related family member 12"	611321				10048485	Standard	XM_005263432		Approved	CSTN1, KIAA0911, CDHR12	uc001aqh.3	O94985	OTTHUMG00000001451	ENST00000377298.4:c.487G>A	1.37:g.9811693C>T	ENSP00000366513:p.Val163Met					CLSTN1_ENST00000361311.4_Missense_Mutation_p.V153M|CLSTN1_ENST00000377288.3_Missense_Mutation_p.V163M	p.V163M	NM_001009566.1	NP_001009566.1	O94985	CSTN1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|Colorectal(212;8.36e-08)|COAD - Colon adenocarcinoma(227;1.93e-05)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(304;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|STAD - Stomach adenocarcinoma(132;0.00644)|READ - Rectum adenocarcinoma(331;0.0419)	5	1279	-	all_lung(157;0.222)	all_lung(284;4.03e-05)|Lung NSC(185;6.93e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)	163			Cadherin 1.		A8K183|Q5SR52|Q5UE58|Q71MN0|Q8N4K9	Missense_Mutation	SNP	ENST00000377298.4	37	c.487G>A	CCDS30580.1	.	.	.	.	.	.	.	.	.	.	C	19.02	3.746320	0.69418	.	.	ENSG00000171603	ENST00000377298;ENST00000361311;ENST00000377288;ENST00000539822	T;T;T	0.47177	0.85;0.85;0.85	5.91	2.57	0.30868	Cadherin (3);Cadherin-like (1);	0.295967	0.36778	N	0.002420	T	0.54224	0.1845	M	0.85859	2.78	0.52099	D	0.999941	D;D;D	0.58268	0.969;0.982;0.969	B;P;B	0.46299	0.313;0.511;0.313	T	0.61969	-0.6953	10	0.62326	D	0.03	-26.1551	10.1466	0.42767	0.0:0.7413:0.1173:0.1413	.	163;153;163	B4E3Q1;O94985-2;O94985	.;.;CSTN1_HUMAN	M	163;153;163;163	ENSP00000366513:V163M;ENSP00000354997:V153M;ENSP00000366502:V163M	ENSP00000354997:V153M	V	-	1	0	CLSTN1	9734280	0.995000	0.38212	0.698000	0.30274	0.922000	0.55478	3.293000	0.51779	0.820000	0.34516	0.655000	0.94253	GTG		0.507	CLSTN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000004239.1			10	40	0	0	0	1	0	10	40					T	9811693	C	T	9811693	3	4	94	1	0	0	0	0	1	0	0	0	3561	536	19	1	2518	1	CLSTN1	1	9811693	Missense_Mutation	SNP	C	TCGA-EJ-7782-01A-11D-2114-08	3176952	9811693	239438928	5	4824											
PLOD1	5351	broad.mit.edu	37	chr1	12017970	12017970	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acaggctgcaccgtgtgtgaCgaaggcttgcgcagcctcaa	9	7	13	12	3	1	1	1	1	0	0	1	2	1	1	2	2	3	4	2	2	2	1	rs373471550		TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr1:12017970C>T	ENST00000196061.4	+	8	840	c.813C>T	c.(811-813)gaC>gaT	p.D271D	PLOD1_ENST00000376369.3_Silent_p.D318D|PLOD1_ENST00000485046.1_3'UTR	NM_000302.3	NP_000293.2	Q02809	PLOD1_HUMAN	procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1	271					cellular protein modification process (GO:0006464)|epidermis development (GO:0008544)|extracellular matrix organization (GO:0030198)|hydroxylysine biosynthetic process (GO:0046947)|oxidation-reduction process (GO:0055114)|response to hypoxia (GO:0001666)	endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|procollagen-lysine 5-dioxygenase activity (GO:0008475)|protein homodimerization activity (GO:0042803)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	29	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.06e-06)|COAD - Colon adenocarcinoma(227;0.000273)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000809)|KIRC - Kidney renal clear cell carcinoma(229;0.00267)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)	Succinic acid(DB00139)|Vitamin C(DB00126)	CCGTGTGTGACGAAGGCTTGC	0.632													C|||	1	0.000199681	0	0	5008	,	,		18168	0		0	False		,,,				2504	0.001					ENST00000196061.4																			0				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	29						c.(811-813)gaC>gaT		procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1	Minoxidil(DB00350)|Succinic acid(DB00139)|Vitamin C(DB00126)	C		1,4405	2.1+/-5.4	0,1,2202	85	79	81		813	-7.8	0.7	1		81	0,8600		0,0,4300	no	coding-synonymous	PLOD1	NM_000302.3		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		271/728	12017970	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	5351				epidermis development|hydroxylysine biosynthetic process|protein modification process|response to hypoxia	rough endoplasmic reticulum membrane	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein homodimerization activity	g.chr1:12017970C>T	BC016657	CCDS142.1	1p36.22	2011-08-25	2011-08-24	2004-12-14	ENSG00000083444	ENSG00000083444	1.14.11.4		9081	protein-coding gene	gene with protein product	"lysyl hydroxlase 1"	153454	"procollagen-lysine 1, 2-oxoglutarate 5-dioxygenase (lysine hydroxylase, Ehlers-Danlos syndrome type VI)"	LLH, PLOD		1577494	Standard	NM_000302		Approved	LH1	uc001atm.3	Q02809	OTTHUMG00000002393	ENST00000196061.4:c.813C>T	1.37:g.12017970C>T						PLOD1_ENST00000485046.1_3'UTR|PLOD1_ENST00000376369.3_Silent_p.D318D	p.D271D	NM_000302.3	NP_000293.2	Q02809	PLOD1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.06e-06)|COAD - Colon adenocarcinoma(227;0.000273)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000809)|KIRC - Kidney renal clear cell carcinoma(229;0.00267)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)	8	840	+	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)	271					B4DR87|Q96AV9|Q9H132	Silent	SNP	ENST00000196061.4	37	c.813C>T	CCDS142.1																																																																																				0.632	PLOD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000006865.1	NM_000302		29	34	0	0	0	1	0	29	34					T	12017970	C	T	12017970	2	4	94	1	0	0	0	0	0	0	0	1	12101	535	19	1		1	PLOD1	1	12017970	Silent	SNP	C	TCGA-EJ-7782-01A-11D-2114-08	2206277	12017970	237232651	6	4825											
VPS13D	55187	broad.mit.edu	37	chr1	12460321	12460321	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gagaatgaggtcatcgagacCggcccagctgtgcaagtcaa	12	6	13	10	2	2	3	2	1	0	2	3	5	2	3	2	2	2	2	2	2	3	0	rs376413956		TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr1:12460321C>T	ENST00000358136.3	+	61	11848	c.11718C>T	c.(11716-11718)acC>acT	p.T3906T	VPS13D_ENST00000356315.4_Silent_p.T3881T|VPS13D_ENST00000496628.1_3'UTR	NM_015378.2	NP_056193.2			vacuolar protein sorting 13 homolog D (S. cerevisiae)											NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		TCATCGAGACCGGCCCAGCTG	0.557																																						ENST00000358136.3																			0				NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130						c.(11716-11718)acC>acT		vacuolar protein sorting 13 homolog D (S. cerevisiae)		C	,	0,4406		0,0,2203	119	97	105		11718,11643	-12.1	0	1		105	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	VPS13D	NM_015378.2,NM_018156.2	,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,	3906/4389,3881/4364	12460321	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	55187				protein localization			g.chr1:12460321C>T	AJ608774	CCDS30588.1, CCDS30589.1	1p36.21	2008-02-05	2006-04-04		ENSG00000048707	ENSG00000048707			23595	protein-coding gene	gene with protein product		608877	"vacuolar protein sorting 13D (yeast)"				Standard	NM_015378		Approved	FLJ10619, KIAA0453	uc001atv.3	Q5THJ4	OTTHUMG00000013155	ENST00000358136.3:c.11718C>T	1.37:g.12460321C>T						VPS13D_ENST00000496628.1_3'UTR|VPS13D_ENST00000356315.4_Silent_p.T3881T	p.T3906T	NM_015378.2	NP_056193.2	Q5THJ4	VP13D_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)	61	11848	+	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)	3905						Silent	SNP	ENST00000358136.3	37	c.11718C>T	CCDS30588.1	.	.	.	.	.	.	.	.	.	.	C	0.729	-0.780481	0.02929	0.0	1.16E-4	ENSG00000048707	ENST00000011700	.	.	.	6.03	-12.1	0.00011	.	.	.	.	.	T	0.39572	0.1083	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.59757	-0.7394	4	.	.	.	.	4.3964	0.11365	0.0793:0.4333:0.1798:0.3076	.	.	.	.	L	2728	.	.	P	+	2	0	VPS13D	12382908	0.000000	0.05858	0.013000	0.15412	0.222000	0.24845	-3.081000	0.00613	-4.916000	0.00027	-1.202000	0.01658	CCG		0.557	VPS13D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000036897.2	NM_015378		10	31	0	0	0	1	0	10	31					T	12460321	C	T	12460321	2	4	94	1	0	0	0	0	0	0	0	1	17189	639	23	2		2	VPS13D	1	12460321	Silent	SNP	C	TCGA-EJ-7782-01A-11D-2114-08	442351	12460321	236790300	7	4826											
PRAMEF22	653606	broad.mit.edu	37	chr1	13036655	13036655	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttcgcaaactcttcatctccGatggctgtcgttacctgcta	7	14	7	13	3	3	0	1	0	2	0	6	1	3	0	2	1	3	4	2	1	3	4			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr1:13036655G>A	ENST00000376187.1	+	2	727	c.727G>A	c.(727-729)Gat>Aat	p.D243N	PRAMEF6_ENST00000376192.5_Intron	NM_001100631.1	NP_001094101.1	A3QJZ6	PRA22_HUMAN	PRAME family member 22	243					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)					kidney(1)|large_intestine(2)|lung(1)|skin(1)	5						CTTCATCTCCGATGGCTGTCG	0.478																																						ENST00000376187.1																			0				kidney(1)|large_intestine(2)|lung(1)|skin(1)	5						c.(727-729)Gat>Aat		PRAME family member 22							70	89	82					1																	13036655		2193	4289	6482	SO:0001583	missense	653606							g.chr1:13036655G>A			1p36.21	2013-01-17			ENSG00000204508			"-"	34393	protein-coding gene	gene with protein product							Standard	NM_001100631		Approved	PRAMEF3L	uc009vnq.1	A3QJZ6	OTTHUMG00000074726	ENST00000376187.1:c.727G>A	1.37:g.13036655G>A	ENSP00000365358:p.Asp243Asn					PRAMEF6_ENST00000376192.5_Intron	p.D243N	NM_001100631.1	NP_001094101.1	A3QJZ6	PRA22_HUMAN			2	727	+			243					A6NMM3	Missense_Mutation	SNP	ENST00000376187.1	37	c.727G>A	CCDS41256.1	.	.	.	.	.	.	.	.	.	.	.	3.175	-0.169119	0.06461	.	.	ENSG00000204508	ENST00000376187	T	0.15017	2.46	0.869	-0.303	0.12792	.	1.674560	0.03090	N	0.159663	T	0.06050	0.0157	N	0.05383	-0.06	0.09310	N	1	P	0.44816	0.844	B	0.32211	0.142	T	0.17684	-1.0361	10	0.13853	T	0.58	.	3.1079	0.06348	0.3724:0.0:0.6276:0.0	.	243	A3QJZ6	PRA22_HUMAN	N	243	ENSP00000365358:D243N	ENSP00000365358:D243N	D	+	1	0	PRAMEF22	12959242	0.000000	0.05858	0.005000	0.12908	0.082000	0.17680	-1.846000	0.01676	-0.100000	0.12241	0.173000	0.16961	GAT		0.478	PRAMEF22-001	KNOWN	mRNA_start_NF|mRNA_end_NF|cds_end_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000158511.1	NM_001100631		5	88	0	0	0	1	0	5	88					A	13036655	G	A	13036655	3	1	94	1	0	0	0	0	1	0	0	0	12436	1058	37	2	733	2	PRAMEF22	1	13036655	Missense_Mutation	SNP	G	TCGA-EJ-7782-01A-11D-2114-08	576334	13036655	236213966	8	4827											
EPHA2	1969	broad.mit.edu	37	chr1	16458599	16458599	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggggtcgtcctccagcacgCgggacaggccaaagtcagac	9	4	14	14	4	1	1	1	0	0	1	4	2	3	2	3	4	1	1	3	4	1	0			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr1:16458599C>T	ENST00000358432.5	-	13	2439	c.2285G>A	c.(2284-2286)cGc>cAc	p.R762H		NM_004431.3	NP_004422.2	P29317	EPHA2_HUMAN	EPH receptor A2	762	Mediates interaction with ARHGEF16 and ELMO2.|Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of Rac GTPase activity (GO:0032863)|angiogenesis (GO:0001525)|axial mesoderm formation (GO:0048320)|bone remodeling (GO:0046849)|branching involved in mammary gland duct morphogenesis (GO:0060444)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell migration (GO:0016477)|ephrin receptor signaling pathway (GO:0048013)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|keratinocyte differentiation (GO:0030216)|lens fiber cell morphogenesis (GO:0070309)|mammary gland epithelial cell proliferation (GO:0033598)|multicellular organismal development (GO:0007275)|negative regulation of protein kinase B signaling (GO:0051898)|neural tube development (GO:0021915)|neuron differentiation (GO:0030182)|notochord cell development (GO:0060035)|notochord formation (GO:0014028)|osteoblast differentiation (GO:0001649)|osteoclast differentiation (GO:0030316)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|post-anal tail morphogenesis (GO:0036342)|protein kinase B signaling (GO:0043491)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of cell adhesion mediated by integrin (GO:0033628)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of lamellipodium assembly (GO:0010591)|response to growth factor (GO:0070848)|skeletal system development (GO:0001501)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cell projection (GO:0042995)|cell surface (GO:0009986)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|leading edge membrane (GO:0031256)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	42		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649)	Dasatinib(DB01254)|Regorafenib(DB08896)	CTCCAGCACGCGGGACAGGCC	0.607																																						ENST00000358432.5																			0				NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	42						c.(2284-2286)cGc>cAc		EPH receptor A2	Dasatinib(DB01254)						134	118	124					1																	16458599		2203	4300	6503	SO:0001583	missense	1969				activation of Rac GTPase activity|angiogenesis|apoptosis|cell chemotaxis|negative regulation of protein kinase B signaling cascade|positive regulation of establishment of protein localization in plasma membrane|protein kinase B signaling cascade|regulation of blood vessel endothelial cell migration|regulation of cell adhesion mediated by integrin|regulation of lamellipodium assembly|response to growth factor stimulus	focal adhesion|integral to plasma membrane|lamellipodium membrane|ruffle membrane	ATP binding|ephrin receptor activity|protein binding	g.chr1:16458599C>T	BC037166	CCDS169.1	1p36	2013-02-11	2004-10-28		ENSG00000142627	ENSG00000142627	2.7.10.1	"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3386	protein-coding gene	gene with protein product		176946	"EphA2"	ECK		9119409	Standard	NM_004431		Approved		uc001aya.2	P29317	OTTHUMG00000009527	ENST00000358432.5:c.2285G>A	1.37:g.16458599C>T	ENSP00000351209:p.Arg762His						p.R762H	NM_004431.3	NP_004422.2	P29317	EPHA2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649)	13	2439	-		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)	762			Mediates interaction with ARHGEF16 and ELMO2.|Protein kinase.		B5A968|Q8N3Z2	Missense_Mutation	SNP	ENST00000358432.5	37	c.2285G>A	CCDS169.1	.	.	.	.	.	.	.	.	.	.	C	36	5.680131	0.96774	.	.	ENSG00000142627	ENST00000358432	D	0.85258	-1.96	6.07	6.07	0.98685	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.56097	D	0.000021	D	0.94221	0.8145	M	0.91140	3.18	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.94700	0.7882	10	0.87932	D	0	.	18.1378	0.89627	0.0:1.0:0.0:0.0	.	762	P29317	EPHA2_HUMAN	H	762	ENSP00000351209:R762H	ENSP00000351209:R762H	R	-	2	0	EPHA2	16331186	1.000000	0.71417	0.973000	0.42090	0.963000	0.63663	7.818000	0.86416	2.884000	0.98904	0.655000	0.94253	CGC		0.607	EPHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026322.1	NM_004431		11	67	0	0	0	1	0	11	67					T	16458599	C	T	16458599	3	4	94	1	0	0	0	0	1	0	0	0	5167	768	27	1	665	1	EPHA2	1	16458599	Missense_Mutation	SNP	C	TCGA-EJ-7782-01A-11D-2114-08	3421944	16458599	232792022	9	4828											
ARHGEF19	128272	broad.mit.edu	37	chr1	16534048	16534048	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aatcgagactggcgccgctcGttggtgctcctggaccccaa	7	8	12	14	4	0	1	0	0	0	1	3	3	1	2	4	3	1	3	4	3	2	1			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr1:16534048G>A	ENST00000270747.3	-	5	979	c.843C>T	c.(841-843)aaC>aaT	p.N281N	ARHGEF19_ENST00000478117.1_5'Flank	NM_153213.3	NP_694945.2	Q8IW93	ARHGJ_HUMAN	Rho guanine nucleotide exchange factor (GEF) 19	281					regulation of actin cytoskeleton organization (GO:0032956)|wound healing (GO:0042060)		GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			cervix(1)|endometrium(1)|lung(3)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	12		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|Colorectal(212;3.48e-07)|COAD - Colon adenocarcinoma(227;2.19e-05)|BRCA - Breast invasive adenocarcinoma(304;9.46e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.0117)|READ - Rectum adenocarcinoma(331;0.0649)		GGCGCCGCTCGTTGGTGCTCC	0.622																																						ENST00000270747.3																			0				cervix(1)|endometrium(1)|lung(3)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	12						c.(841-843)aaC>aaT		Rho guanine nucleotide exchange factor (GEF) 19							57	53	55					1																	16534048		2203	4300	6503	SO:0001819	synonymous_variant	128272				regulation of actin cytoskeleton organization	intracellular	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	g.chr1:16534048G>A	BC012982	CCDS170.1	1p36.13	2011-11-16			ENSG00000142632	ENSG00000142632		"Rho guanine nucleotide exchange factors"	26604	protein-coding gene	gene with protein product		612496				12477932	Standard	NM_153213		Approved	FLJ33962, WGEF	uc001ayc.1	Q8IW93	OTTHUMG00000002219	ENST00000270747.3:c.843C>T	1.37:g.16534048G>A						ARHGEF19_ENST00000421561.1_Silent_p.N281N	p.N281N	NM_153213.3	NP_694945.2	Q8IW93	ARHGJ_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|Colorectal(212;3.48e-07)|COAD - Colon adenocarcinoma(227;2.19e-05)|BRCA - Breast invasive adenocarcinoma(304;9.46e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.0117)|READ - Rectum adenocarcinoma(331;0.0649)	5	979	-		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)	281					A6NJ04|Q5TEV2|Q6PJQ4|Q8N244	Silent	SNP	ENST00000270747.3	37	c.843C>T	CCDS170.1																																																																																				0.622	ARHGEF19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006289.1	NM_153213		7	20	0	0	0	1	0	7	20					A	16534048	G	A	16534048	2	1	94	1	0	0	0	0	0	0	0	1	902	1136	40	1		1	ARHGEF19	1	16534048	Silent	SNP	G	TCGA-EJ-7782-01A-11D-2114-08	75449	16534048	232716573	10	4829											
ATP13A2	23400	broad.mit.edu	37	chr1	17322515	17322515	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cttgccccccaggttgatgcGcagtgggtggatgcagaaaa	9	8	14	10	1	0	2	0	1	0	1	0	3	0	3	3	3	3	3	3	3	2	2			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr1:17322515G>A	ENST00000326735.8	-	15	1531	c.1498C>T	c.(1498-1500)Cgc>Tgc	p.R500C	ATP13A2_ENST00000341676.5_Missense_Mutation_p.R495C|RP1-37C10.3_ENST00000446261.1_RNA|ATP13A2_ENST00000502860.1_5'UTR|ATP13A2_ENST00000452699.1_Missense_Mutation_p.R495C			Q9NQ11	AT132_HUMAN	ATPase type 13A2	500					cell death (GO:0008219)|cellular response to manganese ion (GO:0071287)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(11)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Colorectal(325;0.000147)|Breast(348;0.00104)|Renal(390;0.00145)|Lung NSC(340;0.00566)|all_lung(284;0.00797)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|COAD - Colon adenocarcinoma(227;1.11e-05)|BRCA - Breast invasive adenocarcinoma(304;1.99e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182)		AGGTTGATGCGCAGTGGGTGG	0.662																																						ENST00000452699.1																			0				central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(11)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32						c.(1483-1485)Cgc>Tgc		ATPase type 13A2							73	74	74					1																	17322515		2203	4300	6503	SO:0001583	missense	23400				ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding	g.chr1:17322515G>A	AL354615	CCDS175.1, CCDS44072.1, CCDS44073.1	1p36	2014-09-17			ENSG00000159363	ENSG00000159363		"ATPases / P-type", "Parkinson disease"	30213	protein-coding gene	gene with protein product		610513	"Parkinson disease (autosomal recessive) 9 (Kufor-Rakeb syndrome)"	PARK9		15381061, 16964263	Standard	XM_005245809		Approved	HSA9947, CLN12	uc001baa.2	Q9NQ11	OTTHUMG00000002293	ENST00000326735.8:c.1498C>T	1.37:g.17322515G>A	ENSP00000327214:p.Arg500Cys					ATP13A2_ENST00000502860.1_5'UTR|ATP13A2_ENST00000326735.8_Missense_Mutation_p.R500C|RP1-37C10.3_ENST00000446261.1_RNA|ATP13A2_ENST00000341676.5_Missense_Mutation_p.R495C	p.R495C	NM_001141973.1|NM_022089.2	NP_001135445.1|NP_071372.1	Q9NQ11	AT132_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|COAD - Colon adenocarcinoma(227;1.11e-05)|BRCA - Breast invasive adenocarcinoma(304;1.99e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182)	15	1672	-		Colorectal(325;0.000147)|Breast(348;0.00104)|Renal(390;0.00145)|Lung NSC(340;0.00566)|all_lung(284;0.00797)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)	500					O75700|Q5JXY1|Q5JXY2|Q6S9Z9	Missense_Mutation	SNP	ENST00000326735.8	37	c.1483C>T	CCDS175.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.076675	0.76415	.	.	ENSG00000159363	ENST00000326735;ENST00000341676;ENST00000452699;ENST00000503552	T;T;T;T	0.79653	-1.29;-1.29;-1.29;-1.29	4.27	4.27	0.50696	.	0.000000	0.85682	D	0.000000	D	0.91727	0.7384	H	0.95224	3.64	0.58432	D	0.999999	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;0.99;0.999;0.999;0.994	D	0.93159	0.6556	10	0.87932	D	0	-20.6683	10.9579	0.47368	0.0:0.0:0.8127:0.1873	.	176;213;495;495;500	Q52PK6;Q6ZP48;Q5JXY1;Q6S9Z9;Q9NQ11	.;.;.;.;AT132_HUMAN	C	500;495;495;59	ENSP00000327214:R500C;ENSP00000341115:R495C;ENSP00000413307:R495C;ENSP00000421126:R59C	ENSP00000327214:R500C	R	-	1	0	ATP13A2	17195102	1.000000	0.71417	1.000000	0.80357	0.837000	0.47467	4.563000	0.60823	2.078000	0.62432	0.491000	0.48974	CGC		0.662	ATP13A2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000006617.1	NM_022089		4	49	0	0	0	1	0	4	49					A	17322515	G	A	17322515	3	1	94	1	0	0	0	0	1	0	0	0	1124	1087	38	1	2340	1	ATP13A2	1	17322515	Missense_Mutation	SNP	G	TCGA-EJ-7782-01A-11D-2114-08	788467	17322515	231928106	11	4830											
TMEM57	55219	broad.mit.edu	37	chr1	25815687	25815687	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agaatgcaccgaaaccttacGgaatcggatcagagaactag	16	6	10	9	3	1	2	1	0	0	2	2	6	1	4	2	2	4	1	2	2	6	2			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr1:25815687G>A	ENST00000374343.4	+	9	1699	c.1520G>A	c.(1519-1521)cGg>cAg	p.R507Q	TMEM57_ENST00000399766.3_Missense_Mutation_p.R280Q|TMEM57_ENST00000399763.3_Missense_Mutation_p.R149Q	NM_018202.4	NP_060672.2	Q8N5G2	MACOI_HUMAN	transmembrane protein 57	507					brain development (GO:0007420)	axon (GO:0030424)|integral component of membrane (GO:0016021)|neuron projection terminus (GO:0044306)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|synapse (GO:0045202)				breast(3)|endometrium(2)|kidney(2)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	27		Colorectal(325;0.000147)|Renal(390;0.00211)|Lung NSC(340;0.00715)|all_lung(284;0.00989)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0675)|all_neural(195;0.201)		UCEC - Uterine corpus endometrioid carcinoma (279;0.042)|OV - Ovarian serous cystadenocarcinoma(117;1.85e-26)|Colorectal(126;2.99e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|STAD - Stomach adenocarcinoma(196;0.000766)|BRCA - Breast invasive adenocarcinoma(304;0.000986)|GBM - Glioblastoma multiforme(114;0.0191)|READ - Rectum adenocarcinoma(331;0.0649)		GAAACCTTACGGAATCGGATC	0.448																																						ENST00000374343.4																			0				breast(3)|endometrium(2)|kidney(2)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	27						c.(1519-1521)cGg>cAg		transmembrane protein 57							89	88	89					1																	25815687		2203	4300	6503	SO:0001583	missense	55219					axon|integral to membrane|neuron projection terminus|nuclear membrane|synapse part		g.chr1:25815687G>A	AK001609	CCDS30638.1, CCDS60034.1	1p36.11	2008-02-05			ENSG00000204178	ENSG00000204178			25572	protein-coding gene	gene with protein product		610301				12459264, 15255972	Standard	XM_005245931		Approved	FLJ10747	uc001bkk.3	Q8N5G2	OTTHUMG00000003473	ENST00000374343.4:c.1520G>A	1.37:g.25815687G>A	ENSP00000363463:p.Arg507Gln					TMEM57_ENST00000399763.3_Missense_Mutation_p.R149Q|TMEM57_ENST00000399766.3_Missense_Mutation_p.R280Q	p.R507Q	NM_018202.4	NP_060672.2	Q8N5G2	MACOI_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.042)|OV - Ovarian serous cystadenocarcinoma(117;1.85e-26)|Colorectal(126;2.99e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|STAD - Stomach adenocarcinoma(196;0.000766)|BRCA - Breast invasive adenocarcinoma(304;0.000986)|GBM - Glioblastoma multiforme(114;0.0191)|READ - Rectum adenocarcinoma(331;0.0649)	9	1699	+		Colorectal(325;0.000147)|Renal(390;0.00211)|Lung NSC(340;0.00715)|all_lung(284;0.00989)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0675)|all_neural(195;0.201)	507					B1AK00|Q2TLX5|Q2TLX6|Q9NVG6	Missense_Mutation	SNP	ENST00000374343.4	37	c.1520G>A	CCDS30638.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.243008	0.79912	.	.	ENSG00000204178	ENST00000399766;ENST00000399763;ENST00000374343	T;T	0.76316	-1.01;2.53	6.04	6.04	0.98038	.	0.058519	0.64402	D	0.000002	T	0.80470	0.4629	M	0.68593	2.085	0.53688	D	0.999978	P;D;P	0.63880	0.907;0.993;0.574	B;P;B	0.49683	0.187;0.619;0.252	T	0.81055	-0.1106	10	0.51188	T	0.08	-11.7893	12.8192	0.57683	0.0737:0.0:0.9263:0.0	.	149;280;507	Q8N5G2-2;Q8N5G2-3;Q8N5G2	.;.;MACOI_HUMAN	Q	280;149;507	ENSP00000382668:R280Q;ENSP00000363463:R507Q	ENSP00000363463:R507Q	R	+	2	0	TMEM57	25688274	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.271000	0.72569	2.873000	0.98535	0.561000	0.74099	CGG		0.448	TMEM57-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009659.2	NM_018202		6	23	0	0	0	1	0	6	23					A	25815687	G	A	25815687	3	1	94	1	0	0	0	0	1	0	0	0	16181	1116	39	2	1554	2	TMEM57	1	25815687	Missense_Mutation	SNP	G	TCGA-EJ-7782-01A-11D-2114-08	8493172	25815687	223434934	12	4831											
SMPDL3B	27293	broad.mit.edu	37	chr1	28285052	28285052	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gggacgccgcgctgggagctCgagtaccagctgaccgaggc	7	4	17	13	5	0	1	0	1	0	0	1	5	0	3	3	3	3	4	3	3	1	1	rs373190969		TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr1:28285052C>T	ENST00000373894.3	+	8	1262	c.1071C>T	c.(1069-1071)ctC>ctT	p.L357L	SMPDL3B_ENST00000549094.1_Silent_p.L309L|RP11-460I13.2_ENST00000448015.1_RNA|XKR8_ENST00000373884.5_5'Flank	NM_014474.2	NP_055289.2	Q92485	ASM3B_HUMAN	sphingomyelin phosphodiesterase, acid-like 3B	357					sphingomyelin catabolic process (GO:0006685)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	hydrolase activity, acting on glycosyl bonds (GO:0016798)|sphingomyelin phosphodiesterase activity (GO:0004767)			endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	16		Colorectal(325;3.46e-05)|all_lung(284;0.000414)|Lung NSC(340;0.000431)|Renal(390;0.00121)|Breast(348;0.00345)|Ovarian(437;0.00503)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0419)|OV - Ovarian serous cystadenocarcinoma(117;5.68e-24)|Colorectal(126;1.65e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00303)|BRCA - Breast invasive adenocarcinoma(304;0.00587)|READ - Rectum adenocarcinoma(331;0.055)		GCTGGGAGCTCGAGTACCAGC	0.637																																						ENST00000373894.3																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	16						c.(1069-1071)ctC>ctT		sphingomyelin phosphodiesterase, acid-like 3B		C		0,4406		0,0,2203	49	53	52		1071	-5.9	0.9	1		52	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	SMPDL3B	NM_014474.2		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		357/456	28285052	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	27293				sphingomyelin catabolic process	extracellular space	hydrolase activity, acting on glycosyl bonds|sphingomyelin phosphodiesterase activity	g.chr1:28285052C>T	Y08134	CCDS30655.1, CCDS30656.1	1p35.3	2008-02-05			ENSG00000130768	ENSG00000130768			21416	protein-coding gene	gene with protein product							Standard	NM_014474		Approved	ASML3B	uc001bpg.3	Q92485	OTTHUMG00000003910	ENST00000373894.3:c.1071C>T	1.37:g.28285052C>T						RP11-460I13.2_ENST00000448015.1_RNA|SMPDL3B_ENST00000549094.1_Silent_p.L309L	p.L357L	NM_014474.2	NP_055289.2	Q92485	ASM3B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0419)|OV - Ovarian serous cystadenocarcinoma(117;5.68e-24)|Colorectal(126;1.65e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00303)|BRCA - Breast invasive adenocarcinoma(304;0.00587)|READ - Rectum adenocarcinoma(331;0.055)	8	1262	+		Colorectal(325;3.46e-05)|all_lung(284;0.000414)|Lung NSC(340;0.000431)|Renal(390;0.00121)|Breast(348;0.00345)|Ovarian(437;0.00503)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)	357					B7ZB35|Q5T0Z0|Q96CB7	Silent	SNP	ENST00000373894.3	37	c.1071C>T	CCDS30655.1																																																																																				0.637	SMPDL3B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000011170.1	NM_014474		9	34	0	0	0	1	0	9	34					T	28285052	C	T	28285052	2	4	94	1	0	0	0	0	0	0	0	1	14809	871	31	2		2	SMPDL3B	1	28285052	Silent	SNP	C	TCGA-EJ-7782-01A-11D-2114-08	2469365	28285052	220965569	13	4832											
TRIM62	55223	broad.mit.edu	37	chr1	33612961	33612961	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tagtccaggaagacacccacCttgtcaagcttgtcccggac	10	8	9	14	1	1	1	1	0	0	1	3	3	3	3	4	2	1	1	4	2	3	3			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr1:33612961C>A	ENST00000291416.5	-	5	1478	c.1245G>T	c.(1243-1245)aaG>aaT	p.K415N	TRIM62_ENST00000543586.1_Missense_Mutation_p.K294N	NM_018207.2	NP_060677.2	Q9BVG3	TRI62_HUMAN	tripartite motif containing 62	415	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				innate immune response (GO:0045087)|negative regulation of viral transcription (GO:0032897)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein ubiquitination (GO:0016567)|regulation of viral entry into host cell (GO:0046596)|regulation of viral release from host cell (GO:1902186)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	15		Myeloproliferative disorder(586;0.0393)				AGACACCCACCTTGTCAAGCT	0.577																																						ENST00000291416.5																			0				endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						c.(1243-1245)aaG>aaT		tripartite motif containing 62							112	104	107					1																	33612961		2203	4300	6503	SO:0001583	missense	55223					intracellular	zinc ion binding	g.chr1:33612961C>A	BC007999	CCDS376.1	1p35.1	2013-10-11	2011-01-25		ENSG00000116525	ENSG00000116525		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	25574	protein-coding gene	gene with protein product	"ductal epithelium-associated RING Chromosome 1"		"tripartite motif-containing 62"			19536326	Standard	NM_018207		Approved	FLJ10759, DEAR1	uc001bxb.3	Q9BVG3	OTTHUMG00000004132	ENST00000291416.5:c.1245G>T	1.37:g.33612961C>A	ENSP00000291416:p.Lys415Asn					TRIM62_ENST00000543586.1_Missense_Mutation_p.K294N	p.K415N	NM_018207.2	NP_060677.2	Q9BVG3	TRI62_HUMAN			5	1478	-		Myeloproliferative disorder(586;0.0393)	415			B30.2/SPRY.		B3KVH5|B4DTE4|D3DPR1|Q9NVG0	Missense_Mutation	SNP	ENST00000291416.5	37	c.1245G>T	CCDS376.1	.	.	.	.	.	.	.	.	.	.	C	17.98	3.521895	0.64747	.	.	ENSG00000116525	ENST00000291416;ENST00000543586	T;T	0.69175	-0.38;-0.38	5.53	3.66	0.41972	Concanavalin A-like lectin/glucanase (1);Butyrophylin-like (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.000000	0.85682	D	0.000000	T	0.78735	0.4330	M	0.78801	2.425	0.58432	D	0.999996	D	0.89917	1.0	D	0.87578	0.998	T	0.77726	-0.2480	10	0.66056	D	0.02	.	7.6136	0.28145	0.0:0.7391:0.0:0.2609	.	415	Q9BVG3	TRI62_HUMAN	N	415;294	ENSP00000291416:K415N;ENSP00000441173:K294N	ENSP00000291416:K415N	K	-	3	2	TRIM62	33385548	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	1.965000	0.40471	0.702000	0.31825	0.436000	0.28706	AAG		0.577	TRIM62-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011890.1	NM_018207		12	50	1	0	3.07112e-06	1	3.18924e-06	12	50					A	33612961	C	A	33612961	3	1	94	1	0	0	0	0	1	0	0	0	16534	680	24	5	186	5	TRIM62	1	33612961	Missense_Mutation	SNP	C	TCGA-EJ-7782-01A-11D-2114-08	5327909	33612961	215637660	14	4833											
TRIM62	55223	broad.mit.edu	37	chr1	33625513	33625513	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcagccgctcgaaggcctcGccgatagtggtccgcaggct	6	7	14	14	5	0	0	0	0	0	0	3	2	1	0	4	3	2	4	4	3	2	1			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr1:33625513G>A	ENST00000291416.5	-	3	770	c.537C>T	c.(535-537)ggC>ggT	p.G179G	TRIM62_ENST00000543586.1_Silent_p.G58G|TRIM62_ENST00000485148.1_5'UTR	NM_018207.2	NP_060677.2	Q9BVG3	TRI62_HUMAN	tripartite motif containing 62	179					innate immune response (GO:0045087)|negative regulation of viral transcription (GO:0032897)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein ubiquitination (GO:0016567)|regulation of viral entry into host cell (GO:0046596)|regulation of viral release from host cell (GO:1902186)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	15		Myeloproliferative disorder(586;0.0393)				CGAAGGCCTCGCCGATAGTGG	0.657																																						ENST00000291416.5																			0				endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						c.(535-537)ggC>ggT		tripartite motif containing 62							31	35	34					1																	33625513		2202	4300	6502	SO:0001819	synonymous_variant	55223					intracellular	zinc ion binding	g.chr1:33625513G>A	BC007999	CCDS376.1	1p35.1	2013-10-11	2011-01-25		ENSG00000116525	ENSG00000116525		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	25574	protein-coding gene	gene with protein product	"ductal epithelium-associated RING Chromosome 1"		"tripartite motif-containing 62"			19536326	Standard	NM_018207		Approved	FLJ10759, DEAR1	uc001bxb.3	Q9BVG3	OTTHUMG00000004132	ENST00000291416.5:c.537C>T	1.37:g.33625513G>A						TRIM62_ENST00000485148.1_5'UTR|TRIM62_ENST00000543586.1_Silent_p.G58G	p.G179G	NM_018207.2	NP_060677.2	Q9BVG3	TRI62_HUMAN			3	770	-		Myeloproliferative disorder(586;0.0393)	179					B3KVH5|B4DTE4|D3DPR1|Q9NVG0	Silent	SNP	ENST00000291416.5	37	c.537C>T	CCDS376.1																																																																																				0.657	TRIM62-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011890.1	NM_018207		5	28	0	0	0	1	0	5	28					A	33625513	G	A	33625513	2	1	94	1	0	0	0	0	0	0	0	1	16534	1074	38	1		1	TRIM62	1	33625513	Silent	SNP	G	TCGA-EJ-7782-01A-11D-2114-08	12552	33625513	215625108	15	4834											
NASP	4678	broad.mit.edu	37	chr1	46073658	46073658	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cagaggcctcagctgtagagGctggatcagaagtctctgaa	11	8	13	9	0	3	4	2	1	1	3	4	5	3	5	1	3	1	3	1	3	3	1			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr1:46073658G>A	ENST00000350030.3	+	6	1162	c.1075G>A	c.(1075-1077)Gct>Act	p.A359T	NASP_ENST00000372052.4_Intron|NASP_ENST00000537798.1_Missense_Mutation_p.A295T|NASP_ENST00000351223.3_Intron|NASP_ENST00000402363.3_Missense_Mutation_p.A361T	NM_002482.3	NP_002473.2	P49321	NASP_HUMAN	nuclear autoantigenic sperm protein (histone-binding)	359	Glu-rich (acidic).				blastocyst development (GO:0001824)|cell cycle (GO:0007049)|cell proliferation (GO:0008283)|DNA replication (GO:0006260)|DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|histone exchange (GO:0043486)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|protein complex (GO:0043234)	Hsp90 protein binding (GO:0051879)			breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	17	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.211)					AGCTGTAGAGGCTGGATCAGA	0.527																																						ENST00000350030.3																			0				breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	17						c.(1075-1077)Gct>Act		nuclear autoantigenic sperm protein (histone-binding)							86	96	93					1																	46073658		2203	4300	6503	SO:0001583	missense	4678				blastocyst development|cell cycle|cell proliferation|DNA replication|histone exchange|protein transport	cytoplasm|nucleus	Hsp90 protein binding	g.chr1:46073658G>A	M97856	CCDS524.1, CCDS525.1, CCDS55597.1	1p34.1	2013-01-10			ENSG00000132780	ENSG00000132780		"Tetratricopeptide (TTC) repeat domain containing"	7644	protein-coding gene	gene with protein product		603185				1426632	Standard	NM_002482		Approved	FLB7527, FLJ31599, FLJ35510, MGC19722, MGC20372, MGC2297, DKFZp547F162, PRO1999	uc001coi.2	P49321	OTTHUMG00000007826	ENST00000350030.3:c.1075G>A	1.37:g.46073658G>A	ENSP00000255120:p.Ala359Thr					NASP_ENST00000372052.4_Intron|NASP_ENST00000402363.3_Missense_Mutation_p.A361T|NASP_ENST00000537798.1_Missense_Mutation_p.A295T|NASP_ENST00000351223.3_Intron	p.A359T	NM_002482.3	NP_002473.2	P49321	NASP_HUMAN			6	1162	+	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.211)		359			Glu-rich (acidic).		A8K6H2|B4DQP3|D3DQ07|F5H3J2|Q53GW5|Q5T622|Q5T625|Q96A69|Q9BTW2	Missense_Mutation	SNP	ENST00000350030.3	37	c.1075G>A	CCDS524.1	.	.	.	.	.	.	.	.	.	.	G	7.751	0.703415	0.15172	.	.	ENSG00000132780	ENST00000537798;ENST00000402363;ENST00000341288;ENST00000350030	D;D;D	0.94758	-3.51;-3.51;-3.51	5.41	3.43	0.39272	.	0.956771	0.08643	N	0.915310	D	0.89283	0.6671	N	0.24115	0.695	0.09310	N	1	B;B;B;B;B	0.31680	0.328;0.335;0.19;0.099;0.253	B;B;B;B;B	0.31101	0.124;0.086;0.11;0.04;0.087	T	0.77765	-0.2465	9	.	.	.	0.2974	10.7559	0.46237	0.0:0.1427:0.7087:0.1485	.	295;359;259;359;361	F5H3J2;Q53H03;B4DS57;P49321;P49321-3	.;.;.;NASP_HUMAN;.	T	295;361;259;359	ENSP00000438871:A295T;ENSP00000384529:A361T;ENSP00000255120:A359T	.	A	+	1	0	NASP	45846245	0.948000	0.32251	0.143000	0.22291	0.539000	0.34962	0.914000	0.28624	0.697000	0.31718	0.557000	0.71058	GCT		0.527	NASP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000021533.2	NM_002482		28	81	0	0	0	1	0	28	81					A	46073658	G	A	46073658	3	1	94	1	0	0	0	0	1	0	0	0	10172	1203	42	3	1174	3	NASP	1	46073658	Missense_Mutation	SNP	G	TCGA-EJ-7782-01A-11D-2114-08	12448145	46073658	203176963	16	4835											
LRRC41	10489	broad.mit.edu	37	chr1	46746931	46746931	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagtgctcgcacgatagcaCgtgtcagctccaggatgggc	8	7	14	12	3	1	0	1	0	0	0	3	2	2	1	1	2	3	5	1	2	1	1	rs150782403		TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr1:46746931C>T	ENST00000343304.6	-	5	1907	c.1622G>A	c.(1621-1623)cGt>cAt	p.R541H	LRRC41_ENST00000472710.1_5'UTR	NM_006369.4	NP_006360.3	Q15345	LRC41_HUMAN	leucine rich repeat containing 41	541					protein ubiquitination (GO:0016567)	membrane (GO:0016020)				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(3)|pancreas(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	28	Acute lymphoblastic leukemia(166;0.155)					CACGATAGCACGTGTCAGCTC	0.637																																						ENST00000343304.6																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(3)|pancreas(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	28						c.(1621-1623)cGt>cAt		leucine rich repeat containing 41		C	HIS/ARG	0,4406		0,0,2203	80	64	69		1622	4.3	1	1	dbSNP_134	69	1,8599	1.2+/-3.3	0,1,4299	yes	missense	LRRC41	NM_006369.4	29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	541/813	46746931	1,13005	2203	4300	6503	SO:0001583	missense	10489							g.chr1:46746931C>T	AK024051	CCDS533.1	1p34.1	2008-02-05			ENSG00000132128	ENSG00000132128			16917	protein-coding gene	gene with protein product						11384984	Standard	XM_005270376		Approved	MUF1	uc001cpn.3	Q15345	OTTHUMG00000007810	ENST00000343304.6:c.1622G>A	1.37:g.46746931C>T	ENSP00000343298:p.Arg541His					LRRC41_ENST00000472710.1_5'UTR	p.R541H	NM_006369.4	NP_006360.3	Q15345	LRC41_HUMAN			5	1907	-	Acute lymphoblastic leukemia(166;0.155)		541					A8K5G8|Q3MJ96|Q5TDF5|Q71RA8|Q9BSM0	Missense_Mutation	SNP	ENST00000343304.6	37	c.1622G>A	CCDS533.1	.	.	.	.	.	.	.	.	.	.	C	11.50	1.658442	0.29425	0.0	1.16E-4	ENSG00000132128	ENST00000343304;ENST00000371972	T	0.44881	0.91	5.42	4.31	0.51392	.	0.334641	0.29396	N	0.012272	T	0.16685	0.0401	N	0.02539	-0.55	0.28812	N	0.898167	B;B	0.11235	0.004;0.004	B;B	0.06405	0.002;0.002	T	0.10613	-1.0622	10	0.20046	T	0.44	-8.8583	9.0781	0.36534	0.0:0.7578:0.0:0.2422	.	541;541	Q15345-3;Q15345	.;LRC41_HUMAN	H	541;519	ENSP00000343298:R541H	ENSP00000343298:R541H	R	-	2	0	LRRC41	46519518	0.980000	0.34600	1.000000	0.80357	0.992000	0.81027	0.980000	0.29513	2.548000	0.85928	0.557000	0.71058	CGT		0.637	LRRC41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021438.1	NM_006369		11	37	0	0	0	1	0	11	37					T	46746931	C	T	46746931	3	4	94	1	0	0	0	0	1	0	0	0	8999	536	19	1	840	1	LRRC41	1	46746931	Missense_Mutation	SNP	C	TCGA-EJ-7782-01A-11D-2114-08	673273	46746931	202503690	17	4836											
LRRC41	10489	broad.mit.edu	37	chr1	46751327	46751327	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caccaggcccctgacgggtgCgagcacccttcttccctgca	6	7	10	18	2	1	1	0	1	1	0	2	2	2	1	5	2	3	2	5	2	0	2	rs185591715		TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr1:46751327C>T	ENST00000343304.6	-	4	1487	c.1202G>A	c.(1201-1203)cGc>cAc	p.R401H	LRRC41_ENST00000472710.1_5'UTR	NM_006369.4	NP_006360.3	Q15345	LRC41_HUMAN	leucine rich repeat containing 41	401					protein ubiquitination (GO:0016567)	membrane (GO:0016020)				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(3)|pancreas(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	28	Acute lymphoblastic leukemia(166;0.155)					CTGACGGGTGCGAGCACCCTT	0.547													C|||	1	0.000199681	0	0	5008	,	,		19639	0.001		0	False		,,,				2504	0					ENST00000343304.6																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(3)|pancreas(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	28						c.(1201-1203)cGc>cAc		leucine rich repeat containing 41		C	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	83	86	85		1202	5.5	1	1		85	0,8600		0,0,4300	no	missense	LRRC41	NM_006369.4	29	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	401/813	46751327	1,13005	2203	4300	6503	SO:0001583	missense	10489							g.chr1:46751327C>T	AK024051	CCDS533.1	1p34.1	2008-02-05			ENSG00000132128	ENSG00000132128			16917	protein-coding gene	gene with protein product						11384984	Standard	XM_005270376		Approved	MUF1	uc001cpn.3	Q15345	OTTHUMG00000007810	ENST00000343304.6:c.1202G>A	1.37:g.46751327C>T	ENSP00000343298:p.Arg401His					LRRC41_ENST00000472710.1_5'UTR	p.R401H	NM_006369.4	NP_006360.3	Q15345	LRC41_HUMAN			4	1487	-	Acute lymphoblastic leukemia(166;0.155)		401					A8K5G8|Q3MJ96|Q5TDF5|Q71RA8|Q9BSM0	Missense_Mutation	SNP	ENST00000343304.6	37	c.1202G>A	CCDS533.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	c	13.04	2.119157	0.37436	2.27E-4	0.0	ENSG00000132128	ENST00000343304;ENST00000371972	T	0.44083	0.93	5.51	5.51	0.81932	.	0.374124	0.27549	N	0.018867	T	0.41190	0.1148	N	0.03608	-0.345	0.32250	N	0.571594	D;D;D	0.89917	0.999;1.0;0.999	P;D;P	0.71414	0.872;0.973;0.872	T	0.51957	-0.8639	10	0.27082	T	0.32	-1.1096	17.6666	0.88205	0.0:1.0:0.0:0.0	.	401;379;401	Q15345-3;E9PE58;Q15345	.;.;LRC41_HUMAN	H	401;379	ENSP00000343298:R401H	ENSP00000343298:R401H	R	-	2	0	LRRC41	46523914	1.000000	0.71417	0.999000	0.59377	0.978000	0.69477	4.698000	0.61789	2.611000	0.88343	0.450000	0.29827	CGC		0.547	LRRC41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021438.1	NM_006369		32	58	0	0	0	1	0	32	58					T	46751327	C	T	46751327	3	4	94	1	0	0	0	0	1	0	0	0	8999	768	27	1	1264	1	LRRC41	1	46751327	Missense_Mutation	SNP	C	TCGA-EJ-7782-01A-11D-2114-08	4396	46751327	202499294	18	4837											
FAM73A	374986	broad.mit.edu	37	chr1	78338708	78338708	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gatcccagatggattttttgCccatttttatgccatttgtg	7	18	8	8	0	0	1	0	0	0	1	1	3	1	2	3	1	2	0	3	1	1	7	rs149790967		TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr1:78338708C>T	ENST00000370791.3	+	15	1615	c.1583C>T	c.(1582-1584)gCc>gTc	p.A528V	FAM73A_ENST00000443751.2_Missense_Mutation_p.A491V	NM_001270384.1|NM_198549.3	NP_001257313.1|NP_940951.1	Q8NAN2	FA73A_HUMAN	family with sequence similarity 73, member A	528						integral component of membrane (GO:0016021)				breast(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|urinary_tract(1)	19				Colorectal(170;0.226)		GGATTTTTTGCCCATTTTTAT	0.388																																						ENST00000370791.3																			0				breast(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|urinary_tract(1)	19						c.(1582-1584)gCc>gTc		family with sequence similarity 73, member A		C	VAL/ALA	0,4406		0,0,2203	221	211	214		1583	5.8	1	1	dbSNP_134	214	1,8599	1.2+/-3.3	0,1,4299	no	missense	FAM73A	NM_198549.2	64	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	528/633	78338708	1,13005	2203	4300	6503	SO:0001583	missense	374986					integral to membrane		g.chr1:78338708C>T		CCDS681.1, CCDS72809.1	1p31.1	2008-02-05			ENSG00000180488	ENSG00000180488			24741	protein-coding gene	gene with protein product							Standard	NM_001270384		Approved	FLJ35093	uc010ork.3	Q8NAN2	OTTHUMG00000009766	ENST00000370791.3:c.1583C>T	1.37:g.78338708C>T	ENSP00000359827:p.Ala528Val					FAM73A_ENST00000443751.2_Missense_Mutation_p.A491V	p.A528V	NM_001270384.1|NM_198549.3	NP_001257313.1|NP_940951.1	Q8NAN2	FA73A_HUMAN		Colorectal(170;0.226)	15	1615	+			528					Q6MZG0	Missense_Mutation	SNP	ENST00000370791.3	37	c.1583C>T	CCDS681.1	.	.	.	.	.	.	.	.	.	.	C	34	5.297515	0.95574	0.0	1.16E-4	ENSG00000180488	ENST00000370791;ENST00000443751	T;T	0.26957	1.7;1.7	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	T	0.50582	0.1624	M	0.80746	2.51	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.997;0.984;0.984	T	0.53236	-0.8467	10	0.72032	D	0.01	-20.8325	20.0693	0.97712	0.0:1.0:0.0:0.0	.	491;529;528	F8W7S1;B7ZLZ8;Q8NAN2	.;.;FA73A_HUMAN	V	528;491	ENSP00000359827:A528V;ENSP00000393675:A491V	ENSP00000359827:A528V	A	+	2	0	FAM73A	78111296	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.317000	0.79018	2.758000	0.94735	0.563000	0.77884	GCC		0.388	FAM73A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000026931.1	NM_198549		23	90	0	0	0	1	0	23	90					T	78338708	C	T	78338708	3	4	94	1	0	0	0	0	1	0	0	0	5617	739	26	3	1641	3	FAM73A	1	78338708	Missense_Mutation	SNP	C	TCGA-EJ-7782-01A-11D-2114-08	31587381	78338708	170911913	19	4838											
DNAJB4	11080	broad.mit.edu	37	chr1	78479135	78479136	+	Frame_Shift_Ins	INS	-	-	A																															aaattcttaccattgagattINSaaaaaagggtggaaagaagg																										TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr1:78479135_78479136insA	ENST00000370763.5	+	2	869_870	c.612_613insA	c.(613-615)aaafs	p.K205fs	GIPC2_ENST00000476882.1_Intron|DNAJB4_ENST00000487931.1_3'UTR	NM_007034.3	NP_008965.2	Q9UDY4	DNJB4_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 4	205					protein folding (GO:0006457)|response to heat (GO:0009408)|response to unfolded protein (GO:0006986)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	chaperone binding (GO:0051087)|unfolded protein binding (GO:0051082)			endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	10						CCATTGAGATTAAAAAAGGGTG	0.356																																						ENST00000370763.5																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	10						c.(610-615)ataaaafs		DnaJ (Hsp40) homolog, subfamily B, member 4																																				SO:0001589	frameshift_variant	11080				protein folding|response to heat|response to unfolded protein	cytoplasm|plasma membrane	heat shock protein binding|unfolded protein binding	g.chr1:78479135_78479136insA	U40992	CCDS684.1	1p31.1	2011-09-02			ENSG00000162616	ENSG00000162616		"Heat shock proteins / DNAJ (HSP40)"	14886	protein-coding gene	gene with protein product		611327				9546042, 11147971	Standard	NM_007034		Approved	HLJ1	uc001dij.3	Q9UDY4	OTTHUMG00000040905	ENST00000370763.5:c.618dupA	1.37:g.78479141_78479141dupA	ENSP00000359799:p.Lys205fs					DNAJB4_ENST00000487931.1_3'UTR|GIPC2_ENST00000476882.1_Intron	p.IK204fs	NM_007034.3	NP_008965.2	Q9UDY4	DNJB4_HUMAN			2	869_870	+			204					B2R824|Q13431	Frame_Shift_Ins	INS	ENST00000370763.5	37	c.612_613insA	CCDS684.1																																																																																				0.356	DNAJB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098248.3			26	75						26	75	---	---	---	---	A	78479136	-	A	78479135	7	5	94	1	0	1	1	0	0	0	0	0	4622	1742	61	0	618	0	DNAJB4	1	78479135	Frame_Shift_Ins	INS	-	TCGA-EJ-7782-01A-11D-2114-08	140427	78479135	170771486	20	4839											
DNASE2B	58511	broad.mit.edu	37	chr1	84880400	84880400	+	Frame_Shift_Del	DEL	A	A	-																															tgccaagtggtgtatttcccAaaagggcaccaaaaatcgct																										TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr1:84880400delA	ENST00000370665.3	+	6	968	c.935delA	c.(934-936)caafs	p.Q312fs	DNASE2B_ENST00000370662.3_Frame_Shift_Del_p.Q104fs	NM_021233.2	NP_067056.2	Q8WZ79	DNS2B_HUMAN	deoxyribonuclease II beta	312					apoptotic DNA fragmentation (GO:0006309)	extracellular region (GO:0005576)|intracellular (GO:0005622)|lysosome (GO:0005764)	deoxyribonuclease II activity (GO:0004531)			endometrium(1)|lung(4)|skin(1)	6				all cancers(265;0.00303)|Epithelial(280;0.0112)|OV - Ovarian serous cystadenocarcinoma(397;0.0808)		TGTATTTCCCAAAAGGGCACC	0.408																																					Pancreas(54;788 1175 11852 16034 30034)	ENST00000370665.3																			0				endometrium(1)|lung(4)|skin(1)	6						c.(934-936)cafs		deoxyribonuclease II beta							57	55	55					1																	84880400		2203	4300	6503	SO:0001589	frameshift_variant	58511				DNA metabolic process	lysosome	deoxyribonuclease II activity	g.chr1:84880400delA	AF274571	CCDS694.1, CCDS44167.1	1p22.3	2008-02-05			ENSG00000137976	ENSG00000137976			28875	protein-coding gene	gene with protein product		608057				12594037, 11376952	Standard	NM_021233		Approved	DLAD	uc001djt.1	Q8WZ79	OTTHUMG00000009860	ENST00000370665.3:c.935delA	1.37:g.84880400delA	ENSP00000359699:p.Gln312fs					DNASE2B_ENST00000370662.3_Frame_Shift_Del_p.Q104fs	p.Q312fs	NM_021233.2	NP_067056.2	Q8WZ79	DNS2B_HUMAN		all cancers(265;0.00303)|Epithelial(280;0.0112)|OV - Ovarian serous cystadenocarcinoma(397;0.0808)	6	968	+			312					Q5VXD0|Q5VXD1|Q8WZ80|Q9NQW3	Frame_Shift_Del	DEL	ENST00000370665.3	37	c.935delA	CCDS44167.1																																																																																				0.408	DNASE2B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000027248.1	NM_021233		19	32						19	32	---	---	---	---	-	84880400	A	-	84880400	7	5	94	1	0	1	0	1	0	0	0	0	4665	130	5	0	957	0	DNASE2B	1	84880400	Frame_Shift_Del	DEL	A	TCGA-EJ-7782-01A-11D-2114-08	6401265	84880400	164370221	21	4840											
CLCA1	1179	broad.mit.edu	37	chr1	86942145	86942145	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcacaggtagggcatttgtcCatgagtgggctcatctacga	9	11	12	9	1	3	1	2	1	1	0	4	2	4	1	1	3	1	3	1	3	2	3			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr1:86942145C>T	ENST00000234701.3	+	5	817	c.466C>T	c.(466-468)Cat>Tat	p.H156Y	CLCA1_ENST00000394711.1_Missense_Mutation_p.H156Y			A8K7I4	CLCA1_HUMAN	chloride channel accessory 1	156	Metalloprotease domain. {ECO:0000269|PubMed:23112050}.				calcium ion transport (GO:0006816)|cellular response to hypoxia (GO:0071456)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|transport (GO:0006810)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|microvillus (GO:0005902)|zymogen granule membrane (GO:0042589)	chloride channel activity (GO:0005254)			NS(1)|breast(3)|endometrium(1)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	38		Lung NSC(277;0.239)		all cancers(265;0.0249)|Epithelial(280;0.0476)		GGCATTTGTCCATGAGTGGGC	0.353																																						ENST00000234701.3																			0				NS(1)|breast(3)|endometrium(1)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						c.(466-468)Cat>Tat		chloride channel accessory 1							99	98	98					1																	86942145		2203	4300	6503	SO:0001583	missense	1179				calcium ion transport	extracellular space|integral to plasma membrane	chloride channel activity	g.chr1:86942145C>T		CCDS709.1	1p22.3	2012-02-26	2009-01-29		ENSG00000016490	ENSG00000016490			2015	protein-coding gene	gene with protein product		603906	"chloride channel, calcium activated, family member 1", "chloride channel regulator 1"			9828122	Standard	NM_001285		Approved	CaCC, CLCRG1	uc001dlt.3	A8K7I4	OTTHUMG00000010254	ENST00000234701.3:c.466C>T	1.37:g.86942145C>T	ENSP00000234701:p.His156Tyr					CLCA1_ENST00000394711.1_Missense_Mutation_p.H156Y	p.H156Y			A8K7I4	CLCA1_HUMAN		all cancers(265;0.0249)|Epithelial(280;0.0476)	5	817	+		Lung NSC(277;0.239)	156					B2RAV5|O95151|Q5TDF4|Q9UNF6|Q9UPC6	Missense_Mutation	SNP	ENST00000234701.3	37	c.466C>T	CCDS709.1	.	.	.	.	.	.	.	.	.	.	C	23.8	4.453942	0.84209	.	.	ENSG00000016490	ENST00000234701;ENST00000394711	T;T	0.20069	2.1;2.1	5.85	5.85	0.93711	Chloride channel calcium-activated (1);	0.056686	0.64402	N	0.000002	T	0.53578	0.1805	M	0.92784	3.345	0.40690	D	0.982385	D	0.89917	1.0	D	0.91635	0.999	T	0.64588	-0.6372	10	0.87932	D	0	-22.1946	19.7493	0.96261	0.0:1.0:0.0:0.0	.	156	A8K7I4	CLCA1_HUMAN	Y	156	ENSP00000234701:H156Y;ENSP00000378200:H156Y	ENSP00000234701:H156Y	H	+	1	0	CLCA1	86714733	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	5.516000	0.67055	2.767000	0.95098	0.563000	0.77884	CAT		0.353	CLCA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028277.1	NM_001285		9	28	0	0	0	1	0	9	28					T	86942145	C	T	86942145	3	4	94	1	0	0	0	0	1	0	0	0	3457	594	21	3	480	3	CLCA1	1	86942145	Missense_Mutation	SNP	C	TCGA-EJ-7782-01A-11D-2114-08	2061745	86942145	162308476	22	4841											
RPAP2	79871	broad.mit.edu	37	chr1	92789302	92789302	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgtcactgagcagttaggCgattgcaaattagatagtca	13	11	11	6	1	2	2	2	1	0	1	2	4	2	2	0	1	2	3	0	1	4	4			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr1:92789302C>T	ENST00000610020.1	+	8	934	c.825C>T	c.(823-825)ggC>ggT	p.G275G	RPAP2_ENST00000484158.1_3'UTR	NM_024813.2	NP_079089.2	Q8IXW5	RPAP2_HUMAN	RNA polymerase II associated protein 2	275					dephosphorylation of RNA polymerase II C-terminal domain (GO:0070940)|snRNA transcription (GO:0009301)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|nucleolus (GO:0005730)|nucleus (GO:0005634)	CTD phosphatase activity (GO:0008420)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	22		all_lung(203;0.0565)|Lung NSC(277;0.152)|Glioma(108;0.222)		all cancers(265;0.00647)|GBM - Glioblastoma multiforme(16;0.0234)|Epithelial(280;0.115)		AGCAGTTAGGCGATTGCAAAT	0.373																																						ENST00000370343.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	22						c.(823-825)ggC>ggT		RNA polymerase II associated protein 2							117	115	116					1																	92789302		2203	4300	6503	SO:0001819	synonymous_variant	79871					integral to membrane|nucleus	metal ion binding|phosphoprotein phosphatase activity	g.chr1:92789302C>T	AK023212	CCDS740.1	1p22.1	2014-01-28	2007-07-26	2007-07-26	ENSG00000122484	ENSG00000122484			25791	protein-coding gene	gene with protein product		611476	"chromosome 1 open reading frame 82"	C1orf82		17643375	Standard	NM_024813		Approved	FLJ13150	uc001dot.2	Q8IXW5	OTTHUMG00000010288	ENST00000610020.1:c.825C>T	1.37:g.92789302C>T						RPAP2_ENST00000484158.1_3'UTR	p.G275G	NM_024813.2	NP_079089.2	Q8IXW5	RPAP2_HUMAN		all cancers(265;0.00647)|GBM - Glioblastoma multiforme(16;0.0234)|Epithelial(280;0.115)	8	934	+		all_lung(203;0.0565)|Lung NSC(277;0.152)|Glioma(108;0.222)	275					C9JKB5|Q49AS7|Q9H8Y2	Silent	SNP	ENST00000610020.1	37	c.825C>T	CCDS740.1																																																																																				0.373	RPAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028368.2	NM_024813		26	84	0	0	0	1	0	26	84					T	92789302	C	T	92789302	2	4	94	1	0	0	0	0	0	0	0	1	13542	755	27	1		1	RPAP2	1	92789302	Silent	SNP	C	TCGA-EJ-7782-01A-11D-2114-08	5847157	92789302	156461319	23	4842											
MYBPHL	343263	broad.mit.edu	37	chr1	109838900	109838900	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagagctgggtattatagcCggtgactgtagtgcagtcgg	9	10	16	6	2	0	2	0	1	0	1	1	3	0	2	1	3	3	4	1	3	5	4	rs142341673		TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr1:109838900C>T	ENST00000357155.1	-	6	872	c.823G>A	c.(823-825)Ggc>Agc	p.G275S	MYBPHL_ENST00000477962.1_Intron	NM_001010985.2|NM_001265613.1	NP_001010985.2|NP_001252542.1	A2RUH7	MBPHL_HUMAN	myosin binding protein H-like	275	Ig-like C2-type 2.									central_nervous_system(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(2)	14		all_lung(203;0.00519)|all_epithelial(167;0.00575)|Lung NSC(277;0.00822)		Colorectal(144;0.0306)|Lung(183;0.0681)|COAD - Colon adenocarcinoma(174;0.117)|Epithelial(280;0.197)|all cancers(265;0.225)		GTATTATAGCCGGTGACTGTA	0.592																																						ENST00000357155.1																			0				central_nervous_system(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(2)	14						c.(823-825)Ggc>Agc		myosin binding protein H-like		C	SER/GLY	0,4406		0,0,2203	96	104	101		823	4.2	0.9	1	dbSNP_134	101	1,8599	1.2+/-3.3	0,1,4299	no	missense	MYBPHL	NM_001010985.2	56	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	275/355	109838900	1,13005	2203	4300	6503	SO:0001583	missense	343263							g.chr1:109838900C>T	AK129834	CCDS30793.1	1p13	2013-02-11			ENSG00000221986	ENSG00000221986		"Myosin binding proteins", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	30434	protein-coding gene	gene with protein product							Standard	NM_001010985		Approved		uc001dxk.1	A2RUH7	OTTHUMG00000012002	ENST00000357155.1:c.823G>A	1.37:g.109838900C>T	ENSP00000349678:p.Gly275Ser					MYBPHL_ENST00000477962.1_Intron	p.G275S	NM_001010985.2|NM_001265613.1	NP_001010985.2|NP_001252542.1	A2RUH7	MBPHL_HUMAN		Colorectal(144;0.0306)|Lung(183;0.0681)|COAD - Colon adenocarcinoma(174;0.117)|Epithelial(280;0.197)|all cancers(265;0.225)	6	872	-		all_lung(203;0.00519)|all_epithelial(167;0.00575)|Lung NSC(277;0.00822)	275			Ig-like C2-type 2.		B7ZME5|Q5T2Z7	Missense_Mutation	SNP	ENST00000357155.1	37	c.823G>A	CCDS30793.1	.	.	.	.	.	.	.	.	.	.	C	28.1	4.887031	0.91814	0.0	1.16E-4	ENSG00000221986	ENST00000357155	T	0.81163	-1.46	5.16	4.23	0.50019	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.90113	0.6911	M	0.93678	3.445	0.53688	D	0.999971	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.991	D	0.90615	0.4555	9	0.56958	D	0.05	.	11.7932	0.52082	0.0:0.913:0.0:0.087	.	252;275	B7ZME5;A2RUH7	.;MBPHL_HUMAN	S	275	ENSP00000349678:G275S	ENSP00000349678:G275S	G	-	1	0	MYBPHL	109640423	0.997000	0.39634	0.939000	0.37840	0.922000	0.55478	3.623000	0.54224	2.698000	0.92095	0.561000	0.74099	GGC		0.592	MYBPHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033197.1	NM_001010985		8	40	0	0	0	1	0	8	40					T	109838900	C	T	109838900	3	4	94	1	0	0	0	0	1	0	0	0	10015	652	23	2	253	2	MYBPHL	1	109838900	Missense_Mutation	SNP	C	TCGA-EJ-7782-01A-11D-2114-08	17049598	109838900	139411721	24	4843											
AMPD2	271	broad.mit.edu	37	chr1	110171762	110171762	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtaccaagggccagctggccAacttccaggagatgctggag	10	6	14	11	0	0	1	0	0	0	1	1	3	1	2	4	4	4	3	4	4	3	2			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr1:110171762A>G	ENST00000256578.3	+	13	2125	c.1765A>G	c.(1765-1767)Aac>Gac	p.N589D	AMPD2_ENST00000342115.4_Missense_Mutation_p.N508D|AMPD2_ENST00000393688.3_Missense_Mutation_p.N470D|AMPD2_ENST00000358729.4_Missense_Mutation_p.N514D|AMPD2_ENST00000526301.1_3'UTR|AMPD2_ENST00000528667.1_Missense_Mutation_p.N589D|RP5-1160K1.6_ENST00000369843.3_RNA|AMPD2_ENST00000528454.1_Missense_Mutation_p.N471D	NM_004037.7	NP_004028.3	Q01433	AMPD2_HUMAN	adenosine monophosphate deaminase 2	589					cell death (GO:0008219)|cyclic purine nucleotide metabolic process (GO:0052652)|energy homeostasis (GO:0097009)|IMP biosynthetic process (GO:0006188)|IMP salvage (GO:0032264)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine-containing compound salvage (GO:0043101)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	AMP deaminase activity (GO:0003876)|metal ion binding (GO:0046872)			breast(1)|large_intestine(3)|ovary(2)|skin(1)	7		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		Lung(183;0.0425)|all cancers(265;0.0884)|Colorectal(144;0.109)|Epithelial(280;0.111)|LUSC - Lung squamous cell carcinoma(189;0.228)		CCAGCTGGCCAACTTCCAGGA	0.577																																						ENST00000256578.3																			0				breast(1)|large_intestine(3)|ovary(2)|skin(1)	7						c.(1765-1767)Aac>Gac		adenosine monophosphate deaminase 2							42	40	41					1																	110171762		2203	4300	6503	SO:0001583	missense	271				purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding	g.chr1:110171762A>G	S47833	CCDS804.1, CCDS805.1, CCDS30796.1, CCDS58016.1	1p13.3	2014-03-03	2010-02-10		ENSG00000116337	ENSG00000116337	3.5.4.6		469	protein-coding gene	gene with protein product	"AMPD isoform L"	102771	"adenosine monophosphate deaminase 2 (isoform L)"			1400401, 24482476	Standard	NM_004037		Approved	SPG63	uc009wfh.2	Q01433	OTTHUMG00000011649	ENST00000256578.3:c.1765A>G	1.37:g.110171762A>G	ENSP00000256578:p.Asn589Asp					AMPD2_ENST00000526301.1_3'UTR|AMPD2_ENST00000528454.1_Missense_Mutation_p.N471D|AMPD2_ENST00000528667.1_Missense_Mutation_p.N589D|AMPD2_ENST00000342115.4_Missense_Mutation_p.N508D|RP5-1160K1.6_ENST00000369843.3_RNA|AMPD2_ENST00000393688.3_Missense_Mutation_p.N470D|AMPD2_ENST00000358729.4_Missense_Mutation_p.N514D	p.N589D	NM_004037.7	NP_004028.3	Q01433	AMPD2_HUMAN		Lung(183;0.0425)|all cancers(265;0.0884)|Colorectal(144;0.109)|Epithelial(280;0.111)|LUSC - Lung squamous cell carcinoma(189;0.228)	13	2125	+		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)	589					B4DK50|B4DZI5|E9PNG0|Q14856|Q14857|Q16686|Q16687|Q16688|Q16729|Q5T693|Q5T695|Q96IA1|Q9UDX8|Q9UDX9|Q9UMU4	Missense_Mutation	SNP	ENST00000256578.3	37	c.1765A>G	CCDS805.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	20.2|20.2	3.956852|3.956852	0.73902|0.73902	.|.	.|.	ENSG00000116337|ENSG00000116337	ENST00000342115;ENST00000528667;ENST00000256578;ENST00000358729;ENST00000528454;ENST00000393688|ENST00000369840	D;D;D;D;D;D|.	0.93859|.	-3.3;-3.3;-3.3;-3.3;-3.3;-3.3|.	4.93|4.93	4.93|4.93	0.64822|0.64822	Adenosine/AMP deaminase (1);|.	0.097739|.	0.64402|.	D|.	0.000002|.	T|T	0.68302|0.68302	0.2986|0.2986	M|M	0.83692|0.83692	2.655|2.655	0.44762|0.44762	D|D	0.997769|0.997769	P;B;P;B|.	0.36712|.	0.557;0.338;0.566;0.338|.	B;B;P;B|.	0.46208|.	0.215;0.358;0.507;0.373|.	T|T	0.72760|0.72760	-0.4196|-0.4196	10|5	0.62326|.	D|.	0.03|.	-35.1875|-35.1875	10.5616|10.5616	0.45148|0.45148	0.8382:0.1618:0.0:0.0|0.8382:0.1618:0.0:0.0	.|.	514;470;589;508|.	Q01433-4;Q01433-3;Q01433;Q01433-2|.	.;.;AMPD2_HUMAN;.|.	D|R	508;589;589;514;471;470|559	ENSP00000345498:N508D;ENSP00000436541:N589D;ENSP00000256578:N589D;ENSP00000351573:N514D;ENSP00000437164:N471D;ENSP00000377292:N470D|.	ENSP00000256578:N589D|.	N|Q	+|+	1|2	0|0	AMPD2|AMPD2	109973285|109973285	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	6.952000|6.952000	0.75989|0.75989	2.066000|2.066000	0.61787|0.61787	0.533000|0.533000	0.62120|0.62120	AAC|CAA		0.577	AMPD2-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390615.1			13	21	0	0	0	1	0	13	21					G	110171762	A	G	110171762	3	3	94	1	0	0	0	0	1	0	0	0	586	130	5	4	1856	4	AMPD2	1	110171762	Missense_Mutation	SNP	A	TCGA-EJ-7782-01A-11D-2114-08	332862	110171762	139078859	25	4844											
ALX3	257	broad.mit.edu	37	chr1	110603475	110603475	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ctgtggccccccagggtgggGggaaagccatggatggagta	8	6	18	9	0	0	0	0	0	0	0	0	3	0	3	4	7	1	1	4	7	2	1			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr1:110603475G>A	ENST00000369792.4	-	4	999	c.912C>T	c.(910-912)ccC>ccT	p.P304P	RP4-773N10.4_ENST00000596959.1_RNA|RP4-773N10.4_ENST00000554749.1_RNA	NM_006492.2	NP_006483.2	O95076	ALX3_HUMAN	ALX homeobox 3	304					embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic skeletal system morphogenesis (GO:0048704)|pattern specification process (GO:0007389)|regulation of apoptotic process (GO:0042981)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	6		all_cancers(81;2.35e-05)|all_epithelial(167;7.69e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.015)|all cancers(265;0.0706)|Epithelial(280;0.0758)|Colorectal(144;0.113)|LUSC - Lung squamous cell carcinoma(189;0.135)		CCAGGGTGGGGGGAAAGCCAT	0.617																																						ENST00000369792.4																			0				large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	6						c.(910-912)ccC>ccT		ALX homeobox 3							34	36	35					1																	110603475		2203	4300	6503	SO:0001819	synonymous_variant	257					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr1:110603475G>A	AF008203	CCDS819.1	1p13.3	2014-02-04	2008-11-04		ENSG00000156150	ENSG00000156150		"Homeoboxes / PRD class"	449	protein-coding gene	gene with protein product		606014	"aristaless-like homeobox 3", "frontonasal dysplasia"	FND		15226305, 11807986, 19409524	Standard	NM_006492		Approved		uc001dzb.3	O95076	OTTHUMG00000011650	ENST00000369792.4:c.912C>T	1.37:g.110603475G>A						RP4-773N10.4_ENST00000554749.1_RNA	p.P304P	NM_006492.2	NP_006483.2	O95076	ALX3_HUMAN		Lung(183;0.015)|all cancers(265;0.0706)|Epithelial(280;0.0758)|Colorectal(144;0.113)|LUSC - Lung squamous cell carcinoma(189;0.135)	4	999	-		all_cancers(81;2.35e-05)|all_epithelial(167;7.69e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)	304					O95075|Q5T8M4	Silent	SNP	ENST00000369792.4	37	c.912C>T	CCDS819.1																																																																																				0.617	ALX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032232.2	NM_006492		6	31	0	0	0	1	0	6	31					A	110603475	G	A	110603475	2	1	94	1	0	0	0	0	0	0	0	1	557	1219	43	3		3	ALX3	1	110603475	Silent	SNP	G	TCGA-EJ-7782-01A-11D-2114-08	431713	110603475	138647146	26	4845											
CAPZA1	829	broad.mit.edu	37	chr1	113197226	113197226	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agatggaggtctgaagtcttGgagagaatcctgtgacagtg	11	10	15	5	0	2	4	0	2	2	2	3	7	3	6	1	3	0	0	1	3	2	1			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr1:113197226G>T	ENST00000263168.3	+	5	1031	c.359G>T	c.(358-360)tGg>tTg	p.W120L	snoU13_ENST00000459345.1_RNA|CAPZA1_ENST00000476936.1_Intron	NM_006135.2	NP_006126.1	P52907	CAZA1_HUMAN	capping protein (actin filament) muscle Z-line, alpha 1	120					actin cytoskeleton organization (GO:0030036)|actin filament capping (GO:0051693)|blood coagulation (GO:0007596)|cellular component movement (GO:0006928)|innate immune response (GO:0045087)|protein complex assembly (GO:0006461)	actin cytoskeleton (GO:0015629)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|F-actin capping protein complex (GO:0008290)|WASH complex (GO:0071203)	actin binding (GO:0003779)			breast(1)|kidney(2)|large_intestine(2)|lung(3)|prostate(1)	9	Lung SC(450;0.246)	all_cancers(81;1.44e-07)|all_epithelial(167;7.64e-07)|all_lung(203;2.16e-05)|Lung NSC(69;3.86e-05)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CTGAAGTCTTGGAGAGAATCC	0.413																																						ENST00000263168.3																			0				breast(1)|kidney(2)|large_intestine(2)|lung(3)|prostate(1)	9						c.(358-360)tGg>tTg		capping protein (actin filament) muscle Z-line, alpha 1							158	170	166					1																	113197226		2203	4300	6503	SO:0001583	missense	829				actin cytoskeleton organization|actin filament capping|blood coagulation|cellular component movement|innate immune response|protein complex assembly	cytosol|extracellular region|F-actin capping protein complex|WASH complex	actin binding	g.chr1:113197226G>T	U56637	CCDS30805.1	1p13.2	2014-05-09			ENSG00000116489	ENSG00000116489			1488	protein-coding gene	gene with protein product		601580				7665558, 9119363	Standard	NM_006135		Approved		uc001ecj.1	P52907	OTTHUMG00000011769	ENST00000263168.3:c.359G>T	1.37:g.113197226G>T	ENSP00000263168:p.Trp120Leu					CAPZA1_ENST00000476936.1_Intron	p.W120L	NM_006135.2	NP_006126.1	P52907	CAZA1_HUMAN		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	5	1031	+	Lung SC(450;0.246)	all_cancers(81;1.44e-07)|all_epithelial(167;7.64e-07)|all_lung(203;2.16e-05)|Lung NSC(69;3.86e-05)	120					Q53FQ6|Q6FHD5	Missense_Mutation	SNP	ENST00000263168.3	37	c.359G>T	CCDS30805.1	.	.	.	.	.	.	.	.	.	.	G	16.16	3.043982	0.55110	.	.	ENSG00000116489	ENST00000263168	.	.	.	4.57	4.57	0.56435	.	0.000000	0.85682	D	0.000000	T	0.26810	0.0656	N	0.25332	0.735	0.80722	D	1	B	0.22746	0.074	B	0.25506	0.061	T	0.17592	-1.0364	9	0.06757	T	0.87	-8.4697	17.4837	0.87682	0.0:0.0:1.0:0.0	.	120	P52907	CAZA1_HUMAN	L	120	.	ENSP00000263168:W120L	W	+	2	0	CAPZA1	112998749	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.655000	0.98512	2.526000	0.85167	0.585000	0.79938	TGG		0.413	CAPZA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032567.2	NM_006135		9	91	1	0	2.17888e-05	1	2.24902e-05	9	91					T	113197226	G	T	113197226	3	4	94	1	0	0	0	0	1	0	0	0	2640	1357	47	5	377	5	CAPZA1	1	113197226	Missense_Mutation	SNP	G	TCGA-EJ-7782-01A-11D-2114-08	2593751	113197226	136053395	27	4846											
PTGFRN	5738	broad.mit.edu	37	chr1	117516856	117516856	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggtcctatatttaatgcttCtgtgcattcagacacaccat	11	14	6	10	0	2	1	1	0	1	1	3	1	3	1	2	1	2	2	2	1	3	6			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr1:117516856C>A	ENST00000393203.2	+	7	2225	c.2078C>A	c.(2077-2079)tCt>tAt	p.S693Y	PTGFRN_ENST00000496699.1_3'UTR	NM_020440.2	NP_065173.2	Q9P2B2	FPRP_HUMAN	prostaglandin F2 receptor inhibitor	693	Ig-like C2-type 6.				lipid particle organization (GO:0034389)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				NS(1)|breast(1)|endometrium(4)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)	46	Lung SC(450;0.225)	all_cancers(81;0.00104)|all_lung(203;8.97e-05)|all_epithelial(167;0.000139)|Lung NSC(69;0.000446)		Lung(183;0.0704)|LUSC - Lung squamous cell carcinoma(189;0.227)|Colorectal(144;0.248)		TTTAATGCTTCTGTGCATTCA	0.423																																						ENST00000393203.2																			0				NS(1)|breast(1)|endometrium(4)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)	46						c.(2077-2079)tCt>tAt		prostaglandin F2 receptor inhibitor							186	196	193					1																	117516856		2203	4300	6503	SO:0001583	missense	5738					endoplasmic reticulum membrane|Golgi apparatus|integral to membrane	protein binding	g.chr1:117516856C>A	AB014734	CCDS890.1	1p13.1	2013-01-29	2013-01-25		ENSG00000134247	ENSG00000134247		"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	9601	protein-coding gene	gene with protein product		601204	"prostaglandin F2 receptor negative regulator"			8655148	Standard	NM_020440		Approved	FPRP, EWI-F, CD9P-1, FLJ11001, KIAA1436, SMAP-6, CD315	uc001egv.1	Q9P2B2	OTTHUMG00000012028	ENST00000393203.2:c.2078C>A	1.37:g.117516856C>A	ENSP00000376899:p.Ser693Tyr					PTGFRN_ENST00000496699.1_3'UTR	p.S693Y	NM_020440.2	NP_065173.2	Q9P2B2	FPRP_HUMAN		Lung(183;0.0704)|LUSC - Lung squamous cell carcinoma(189;0.227)|Colorectal(144;0.248)	7	2225	+	Lung SC(450;0.225)	all_cancers(81;0.00104)|all_lung(203;8.97e-05)|all_epithelial(167;0.000139)|Lung NSC(69;0.000446)	693			Ig-like C2-type 6.		Q5VVU9|Q8N2K6	Missense_Mutation	SNP	ENST00000393203.2	37	c.2078C>A	CCDS890.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.965920	0.74131	.	.	ENSG00000134247	ENST00000393203;ENST00000544471	T	0.03982	3.74	5.74	5.74	0.90152	Immunoglobulin-like (1);	0.137479	0.50627	D	0.000101	T	0.11623	0.0283	L	0.57536	1.79	0.53688	D	0.999974	D	0.76494	0.999	D	0.72982	0.979	T	0.00645	-1.1629	10	0.52906	T	0.07	-20.0722	15.4328	0.75116	0.0:1.0:0.0:0.0	.	693	Q9P2B2	FPRP_HUMAN	Y	693;552	ENSP00000376899:S693Y	ENSP00000376899:S693Y	S	+	2	0	PTGFRN	117318379	0.997000	0.39634	1.000000	0.80357	0.867000	0.49689	3.802000	0.55553	2.720000	0.93068	0.650000	0.86243	TCT		0.423	PTGFRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033271.1	NM_020440		32	61	1	0	5.91797e-21	1	6.44568e-21	32	61					A	117516856	C	A	117516856	3	1	94	1	0	0	0	0	1	0	0	0	12750	913	32	5	2104	5	PTGFRN	1	117516856	Missense_Mutation	SNP	C	TCGA-EJ-7782-01A-11D-2114-08	4319630	117516856	131733765	28	4847											
BCL9	607	broad.mit.edu	37	chr1	147090766	147090766	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caccagcacccaagcctgccGcacccccacgtcccctggac	8	3	7	23	2	0	0	0	0	0	0	1	1	1	1	8	1	3	2	8	1	1	0	rs587637107		TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr1:147090766G>A	ENST00000234739.3	+	8	1545	c.805G>A	c.(805-807)Gca>Aca	p.A269T		NM_004326.2	NP_004317.2	O00512	BCL9_HUMAN	B-cell CLL/lymphoma 9	269	Pro-rich.				canonical Wnt signaling pathway (GO:0060070)|myotube differentiation involved in skeletal muscle regeneration (GO:0014908)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell maintenance (GO:0035019)	cis-Golgi network (GO:0005801)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)				breast(1)|large_intestine(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	7	all_hematologic(923;0.115)					CAAGCCTGCCGCACCCCCACG	0.607			T	"IGH@, IGL@"	B-ALL								G|||	1	0.000199681	0	0	5008	,	,		14685	0		0	False		,,,				2504	0.001					ENST00000234739.3				Dom	yes		1	1q21	607	T	B-cell CLL/lymphoma 9			L	"IGH@, IGL@"		B-ALL		0				breast(1)|large_intestine(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	7						c.(805-807)Gca>Aca		B-cell CLL/lymphoma 9							53	56	55					1																	147090766		2202	4300	6502	SO:0001583	missense	607				Wnt receptor signaling pathway	nucleus	protein binding	g.chr1:147090766G>A	Y13620	CCDS30833.1	1q21	2008-02-05			ENSG00000116128	ENSG00000116128			1008	protein-coding gene	gene with protein product		602597				9490669	Standard	NM_004326		Approved		uc001epq.3	O00512	OTTHUMG00000014031	ENST00000234739.3:c.805G>A	1.37:g.147090766G>A	ENSP00000234739:p.Ala269Thr						p.A269T	NM_004326.2	NP_004317.2	O00512	BCL9_HUMAN			8	1545	+	all_hematologic(923;0.115)		269			Pro-rich.		Q5T489	Missense_Mutation	SNP	ENST00000234739.3	37	c.805G>A	CCDS30833.1	.	.	.	.	.	.	.	.	.	.	G	13.92	2.382392	0.42207	.	.	ENSG00000116128	ENST00000234739	T	0.64438	-0.1	5.65	4.73	0.59995	.	0.478403	0.24922	N	0.034523	T	0.20414	0.0491	N	0.14661	0.345	0.09310	N	1	B;B	0.16603	0.018;0.018	B;B	0.06405	0.002;0.002	T	0.08452	-1.0721	10	0.15499	T	0.54	-1.4929	10.0703	0.42328	0.0712:0.1375:0.7913:0.0	.	269;269	Q1JQ81;O00512	.;BCL9_HUMAN	T	269	ENSP00000234739:A269T	ENSP00000234739:A269T	A	+	1	0	BCL9	145557390	0.999000	0.42202	0.090000	0.20809	0.989000	0.77384	4.026000	0.57232	1.620000	0.50308	0.655000	0.94253	GCA		0.607	BCL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039468.1	NM_004326		29	63	0	0	0	1	0	29	63					A	147090766	G	A	147090766	3	1	94	1	0	0	0	0	1	0	0	0	1381	1087	38	1	823	1	BCL9	1	147090766	Missense_Mutation	SNP	G	TCGA-EJ-7782-01A-11D-2114-08	29573910	147090766	102159855	29	4848											
TARS2	80222	broad.mit.edu	37	chr1	150469374	150469374	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtgtataatgcactagtggCgtttatcagggtaaggggac	10	11	15	5	1	1	0	1	0	0	0	1	1	1	1	0	5	1	4	0	5	5	6			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr1:150469374C>T	ENST00000369064.3	+	9	1044	c.1010C>T	c.(1009-1011)gCg>gTg	p.A337V	TARS2_ENST00000463555.1_Intron|TARS2_ENST00000438568.2_3'UTR|TARS2_ENST00000606933.1_Intron|TARS2_ENST00000369054.2_Intron	NM_025150.3	NP_079426.2	Q9BW92	SYTM_HUMAN	threonyl-tRNA synthetase 2, mitochondrial (putative)	337					gene expression (GO:0010467)|mitochondrial threonyl-tRNA aminoacylation (GO:0070159)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|threonine-tRNA ligase activity (GO:0004829)	p.A337V(1)		cervix(1)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	35	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.51e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)		L-Threonine(DB00156)	GCACTAGTGGCGTTTATCAGG	0.527																																						ENST00000369064.3																			1	Substitution - Missense(1)	p.A337V(1)	large_intestine(1)	cervix(1)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	35						c.(1009-1011)gCg>gTg		threonyl-tRNA synthetase 2, mitochondrial (putative)	L-Threonine(DB00156)						64	55	58					1																	150469374		2203	4300	6503	SO:0001583	missense	80222				threonyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|threonine-tRNA ligase activity	g.chr1:150469374C>T	BC007824	CCDS952.1, CCDS60251.1, CCDS60252.1	1q21.2	2012-10-26	2007-02-23	2007-02-23	ENSG00000143374	ENSG00000143374	6.1.1.3	"Aminoacyl tRNA synthetases / Class II"	30740	protein-coding gene	gene with protein product	"threonine tRNA ligase 2, mitochondrial"	612805	"threonyl-tRNA synthetase-like 1"	TARSL1			Standard	NM_001271895		Approved	FLJ12528	uc001euq.4	Q9BW92	OTTHUMG00000012809	ENST00000369064.3:c.1010C>T	1.37:g.150469374C>T	ENSP00000358060:p.Ala337Val					TARS2_ENST00000463555.1_Intron|TARS2_ENST00000606933.1_Intron|TARS2_ENST00000369054.2_Intron|TARS2_ENST00000438568.2_3'UTR	p.A337V	NM_025150.3	NP_079426.2	Q9BW92	SYTM_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.51e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)		9	1044	+	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		337					Q53GW7|Q96I50|Q9H9V2	Missense_Mutation	SNP	ENST00000369064.3	37	c.1010C>T	CCDS952.1	.	.	.	.	.	.	.	.	.	.	C	18.02	3.529505	0.64860	.	.	ENSG00000143374	ENST00000369064	T	0.68903	-0.36	5.39	4.46	0.54185	Aminoacyl-tRNA synthetase, class II (1);Aminoacyl-tRNA synthetase, class II (G/ H/ P/ S), conserved domain (1);	0.359629	0.29293	N	0.012566	T	0.44456	0.1294	L	0.46819	1.47	0.80722	D	1	B	0.24963	0.115	B	0.18263	0.021	T	0.53215	-0.8470	10	0.62326	D	0.03	-5.8383	11.9664	0.53038	0.4674:0.5326:0.0:0.0	.	337	Q9BW92	SYTM_HUMAN	V	337	ENSP00000358060:A337V	ENSP00000358060:A337V	A	+	2	0	TARS2	148735998	1.000000	0.71417	0.979000	0.43373	0.989000	0.77384	5.003000	0.63959	1.463000	0.47967	0.655000	0.94253	GCG		0.527	TARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000035847.1	NM_025150		5	32	0	0	0	1	0	5	32					T	150469374	C	T	150469374	3	4	94	1	0	0	0	0	1	0	0	0	15557	768	27	1	1044	1	TARS2	1	150469374	Missense_Mutation	SNP	C	TCGA-EJ-7782-01A-11D-2114-08	3378608	150469374	98781247	30	4849											
RPTN	126638	broad.mit.edu	37	chr1	152128424	152128424	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtgagaactctgatcttgtGtgtctggctgaccatagtgg	8	13	13	7	0	3	3	0	3	3	1	3	4	3	3	1	2	1	1	1	2	2	2			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr1:152128424G>A	ENST00000316073.3	-	3	1215	c.1151C>T	c.(1150-1152)aCa>aTa	p.T384I		NM_001122965.1	NP_001116437.1	Q6XPR3	RPTN_HUMAN	repetin	384	Gln-rich.					cornified envelope (GO:0001533)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						CTGATCTTGTGTGTCTGGCTG	0.473																																						ENST00000316073.3																			0				breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						c.(1150-1152)aCa>aTa		repetin							804	694	728					1																	152128424		1568	3582	5150	SO:0001583	missense	126638					proteinaceous extracellular matrix	calcium ion binding	g.chr1:152128424G>A	AK096436	CCDS41397.1	1q21.3	2013-01-10			ENSG00000215853	ENSG00000215853		"EF-hand domain containing"	26809	protein-coding gene	gene with protein product		613259				15854042	Standard	NM_001122965		Approved	FLJ39117	uc001ezs.1	Q6XPR3	OTTHUMG00000154095	ENST00000316073.3:c.1151C>T	1.37:g.152128424G>A	ENSP00000317895:p.Thr384Ile						p.T384I	NM_001122965.1	NP_001116437.1	Q6XPR3	RPTN_HUMAN			3	1215	-			384			Gln-rich.		B7ZBZ3	Missense_Mutation	SNP	ENST00000316073.3	37	c.1151C>T	CCDS41397.1	.	.	.	.	.	.	.	.	.	.	c	15.07	2.725335	0.48833	.	.	ENSG00000215853	ENST00000316073;ENST00000541545	T	0.12672	2.66	4.37	-0.105	0.13601	.	.	.	.	.	T	0.02047	0.0064	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.45160	-0.9280	9	0.37606	T	0.19	.	10.724	0.46057	0.1401:0.3075:0.5524:0.0	.	384	Q6XPR3	RPTN_HUMAN	I	384;39	ENSP00000317895:T384I	ENSP00000317895:T384I	T	-	2	0	RPTN	150395048	0.000000	0.05858	0.000000	0.03702	0.017000	0.09413	-2.259000	0.01178	-0.378000	0.07918	-0.734000	0.03567	ACA		0.473	RPTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333867.1	XM_371312		27	676	0	0	0	1	0	27	676					A	152128424	G	A	152128424	3	1	94	1	0	0	0	0	1	0	0	0	13664	1377	48	3	1207	3	RPTN	1	152128424	Missense_Mutation	SNP	G	TCGA-EJ-7782-01A-11D-2114-08	1659050	152128424	97122197	31	4850											
S100A4	6275	broad.mit.edu	37	chr1	153516337	153516337	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tactcttggaagtccacctcGttgtccctgttgctgtccaa	6	14	8	13	1	1	0	0	0	1	0	5	1	4	1	4	1	2	3	4	1	3	4	rs111468775	byFrequency	TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr1:153516337G>A	ENST00000368716.4	-	3	351	c.204C>T	c.(202-204)aaC>aaT	p.N68N	S100A4_ENST00000481009.1_5'UTR|S100A4_ENST00000368714.1_Silent_p.N68N|S100A4_ENST00000368715.1_Silent_p.N68N|S100A5_ENST00000368718.1_5'Flank|S100A5_ENST00000359215.1_5'Flank|S100A4_ENST00000354332.4_Silent_p.N68N	NM_002961.2	NP_002952.1	P26447	S10A4_HUMAN	S100 calcium binding protein A4	68	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.				epithelial to mesenchymal transition (GO:0001837)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|neuron projection (GO:0043005)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)|RAGE receptor binding (GO:0050786)			large_intestine(2)|lung(1)|prostate(1)	4	all_lung(78;5.98e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.171)		Trifluoperazine(DB00831)	AGTCCACCTCGTTGTCCCTGT	0.483													G|||	4	0.000798722	0.0023	0	5008	,	,		19980	0.001		0	False		,,,				2504	0					ENST00000368716.4																			0				large_intestine(2)|lung(1)|prostate(1)	4						c.(202-204)aaC>aaT		S100 calcium binding protein A4		G	,	9,4397	15.5+/-35.6	0,9,2194	243	219	227		204,204	-0.7	1	1	dbSNP_132	227	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	S100A4	NM_002961.2,NM_019554.2	,	0,10,6493	AA,AG,GG		0.0116,0.2043,0.0769	,	68/102,68/102	153516337	10,12996	2203	4300	6503	SO:0001819	synonymous_variant	6275				epithelial to mesenchymal transition|positive regulation of I-kappaB kinase/NF-kappaB cascade	nucleus|perinuclear region of cytoplasm	calcium ion binding|RAGE receptor binding	g.chr1:153516337G>A	BC016300	CCDS1042.1	1q12-q22	2013-01-10	2006-09-11		ENSG00000196154	ENSG00000196154		"S100 calcium binding proteins", "EF-hand domain containing"	10494	protein-coding gene	gene with protein product	"fibroblast-specific protein-1"	114210	"S100 calcium-binding protein A4 (calcium protein, calvasculin, metastasin, murine placental homolog)", "S100 calcium binding protein A4 (calcium protein, calvasculin, metastasin, murine placental homolog)"	MTS1, CAPL		3155863	Standard	NM_019554		Approved	P9KA, 18A2, PEL98, 42A, FSP1	uc001fbz.3	P26447	OTTHUMG00000013546	ENST00000368716.4:c.204C>T	1.37:g.153516337G>A						S100A4_ENST00000368715.1_Silent_p.N68N|S100A4_ENST00000368714.1_Silent_p.N68N|S100A4_ENST00000481009.1_5'UTR|S100A4_ENST00000354332.4_Silent_p.N68N	p.N68N	NM_002961.2	NP_002952.1	P26447	S10A4_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		3	351	-	all_lung(78;5.98e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		68			EF-hand 2.		A8K7R8|D3DV46|Q6ICP8	Silent	SNP	ENST00000368716.4	37	c.204C>T	CCDS1042.1																																																																																				0.483	S100A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000037714.1	NM_002961		14	128	0	0	0	1	0	14	128					A	153516337	G	A	153516337	2	1	94	1	0	0	0	0	0	0	0	1	13780	1136	40	1		1	S100A4	1	153516337	Silent	SNP	G	TCGA-EJ-7782-01A-11D-2114-08	1387913	153516337	95734284	32	4851											
C1orf43	25912	broad.mit.edu	37	chr1	154179947	154179947	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtcacagagtactctccaaTgtgttatagttatccttaaa	12	14	6	9	1	2	1	1	0	1	1	4	1	3	1	2	0	1	3	2	0	7	5			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr1:154179947T>A	ENST00000368521.5	-	7	942	c.744A>T	c.(742-744)acA>acT	p.T248T	C1orf43_ENST00000350592.3_Silent_p.T214T|C1orf43_ENST00000483282.1_5'UTR|C1orf43_ENST00000368519.1_Silent_p.T230T|C1orf43_ENST00000362076.4_Silent_p.T196T|C1orf189_ENST00000368525.3_5'Flank	NM_001098616.1	NP_001092086.1	Q9BWL3	CA043_HUMAN	chromosome 1 open reading frame 43	248						integral component of membrane (GO:0016021)	coenzyme binding (GO:0050662)|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor (GO:0016616)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)	10	all_lung(78;1.98e-30)|Lung NSC(65;2.87e-28)|Hepatocellular(266;0.0877)					TACTCTCCAATGTGTTATAGT	0.507																																						ENST00000368521.5																			0				cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)	10						c.(742-744)acA>acT		chromosome 1 open reading frame 43							146	147	146					1																	154179947		2203	4300	6503	SO:0001819	synonymous_variant	25912					integral to membrane	coenzyme binding|oxidoreductase activity	g.chr1:154179947T>A	AF077036	CCDS1061.1, CCDS1062.1, CCDS41404.1, CCDS72924.1	1q21.2	2012-06-25			ENSG00000143612	ENSG00000143612			29876	protein-coding gene	gene with protein product						11042152, 11230159	Standard	XM_005245077		Approved	NICE-3, DKFZp586G1722	uc001fei.2	Q9BWL3	OTTHUMG00000035981	ENST00000368521.5:c.744A>T	1.37:g.154179947T>A						C1orf43_ENST00000350592.3_Silent_p.T214T|C1orf43_ENST00000368519.1_Silent_p.T230T|C1orf43_ENST00000483282.1_5'UTR|C1orf43_ENST00000362076.4_Silent_p.T196T	p.T248T	NM_001098616.1	NP_001092086.1	Q9BWL3	CA043_HUMAN			7	942	-	all_lung(78;1.98e-30)|Lung NSC(65;2.87e-28)|Hepatocellular(266;0.0877)		248					A8K3G8|D3DV72|D3DV74|Q5M801|Q5VU73|Q5VU83|Q96HP7|Q9UFU2|Q9UGL7|Q9UGL8|Q9Y2R6	Silent	SNP	ENST00000368521.5	37	c.744A>T	CCDS41404.1																																																																																				0.507	C1orf43-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087664.2	NM_015449		29	61	0	0	0	1	0	29	61					A	154179947	T	A	154179947	2	1	94	1	0	0	0	0	0	0	0	1	2040	1451	51	5		5	C1orf43	1	154179947	Silent	SNP	T	TCGA-EJ-7782-01A-11D-2114-08	663610	154179947	95070674	33	4852											
LMNA	4000	broad.mit.edu	37	chr1	156104218	156104218	+	Frame_Shift_Del	DEL	A	A	-																															aggcagccctaggtgaggccAagaagcaacttcaggatgag																										TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr1:156104218delA	ENST00000368300.4	+	3	750	c.538delA	c.(538-540)aagfs	p.K181fs	LMNA_ENST00000368297.1_Frame_Shift_Del_p.K100fs|LMNA_ENST00000368299.3_Frame_Shift_Del_p.K181fs|LMNA_ENST00000368301.2_Frame_Shift_Del_p.K181fs|LMNA_ENST00000392353.3_Frame_Shift_Del_p.K100fs|LMNA_ENST00000361308.4_Frame_Shift_Del_p.K181fs|LMNA_ENST00000347559.2_Frame_Shift_Del_p.K181fs|LMNA_ENST00000448611.2_Frame_Shift_Del_p.K69fs|LMNA_ENST00000473598.2_Frame_Shift_Del_p.K82fs	NM_170707.3	NP_733821.1	P02545	LMNA_HUMAN	lamin A/C	181	Coil 1B.|Rod.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular protein metabolic process (GO:0044267)|cellular response to hypoxia (GO:0071456)|endoplasmic reticulum unfolded protein response (GO:0030968)|establishment or maintenance of microtubule cytoskeleton polarity (GO:0030951)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mitotic nuclear envelope reassembly (GO:0007084)|muscle organ development (GO:0007517)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|positive regulation of cell aging (GO:0090343)|protein localization to nucleus (GO:0034504)|regulation of cell migration (GO:0030334)|regulation of protein localization to nucleus (GO:1900180)|sterol regulatory element binding protein import into nucleus (GO:0035105)|ventricular cardiac muscle cell development (GO:0055015)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intermediate filament (GO:0005882)|lamin filament (GO:0005638)|nuclear envelope (GO:0005635)|nuclear lamina (GO:0005652)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	structural molecule activity (GO:0005198)			NS(1)|endometrium(1)|kidney(1)|lung(3)|ovary(4)	10	Hepatocellular(266;0.158)					AGGTGAGGCCAAGAAGCAACT	0.542									Werner syndrome;Hutchinson-Gilford Progeria Syndrome																													ENST00000368300.4																			0				NS(1)|endometrium(1)|kidney(1)|lung(3)|ovary(4)	10						c.(538-540)agfs		lamin A/C							68	63	64					1																	156104218		2203	4300	6503	SO:0001589	frameshift_variant	4000	Werner syndrome;Hutchinson-Gilford Progeria Syndrome	Familial Cancer Database	WS, Adult Progeria;HGPS, Progeria	cellular component disassembly involved in apoptosis|cellular response to hypoxia|establishment or maintenance of microtubule cytoskeleton polarity|muscle organ development|positive regulation of cell aging|regulation of apoptosis|regulation of cell migration	cytoplasm|lamin filament|nuclear envelope|perinuclear region of cytoplasm	protein binding|structural molecule activity	g.chr1:156104218delA	BC014507	CCDS1129.1, CCDS1131.1, CCDS58038.1, CCDS72941.1, CCDS72942.1	1q22	2014-09-17			ENSG00000160789	ENSG00000160789		"Intermediate filaments type V, lamins"	6636	protein-coding gene	gene with protein product		150330	"cardiomyopathy, dilated 1A (autosomal dominant)", "limb girdle muscular dystrophy 1B (autosomal dominant)", "progeria 1 (Hutchinson-Gilford type)", "lamin A/C-like 1"	LMN1, CMD1A, LGMD1B, PRO1, LMNL1		8511676, 8838815, 12702809	Standard	NM_005572		Approved	HGPS	uc001fni.3	P02545	OTTHUMG00000013961	ENST00000368300.4:c.538delA	1.37:g.156104218delA	ENSP00000357283:p.Lys181fs					LMNA_ENST00000368297.1_Frame_Shift_Del_p.K100fs|LMNA_ENST00000368299.3_Frame_Shift_Del_p.K181fs|LMNA_ENST00000448611.2_Frame_Shift_Del_p.K69fs|LMNA_ENST00000347559.2_Frame_Shift_Del_p.K181fs|LMNA_ENST00000392353.3_Frame_Shift_Del_p.K100fs|LMNA_ENST00000368301.2_Frame_Shift_Del_p.K181fs|LMNA_ENST00000473598.2_Frame_Shift_Del_p.K82fs|LMNA_ENST00000361308.4_Frame_Shift_Del_p.K181fs	p.K181fs	NM_170707.3	NP_733821.1	P02545	LMNA_HUMAN			3	750	+	Hepatocellular(266;0.158)		181			Coil 1B.|Rod.		B4DI32|D3DVB0|D6RAQ3|E7EUI9|P02546|Q5I6Y4|Q5I6Y6|Q5TCJ2|Q5TCJ3|Q6UYC3|Q969I8|Q96JA2	Frame_Shift_Del	DEL	ENST00000368300.4	37	c.538delA	CCDS1129.1																																																																																				0.542	LMNA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039200.2	NM_170707		15	33						15	33	---	---	---	---	-	156104218	A	-	156104218	7	5	94	1	0	1	0	1	0	0	0	0	8848	131	5	0	548	0	LMNA	1	156104218	Frame_Shift_Del	DEL	A	TCGA-EJ-7782-01A-11D-2114-08	1924271	156104218	93146403	34	4853											
CCT3	7203	broad.mit.edu	37	chr1	156288708	156288708	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aagaatccagcagcacaatgCgagggttcttgatatagcgc	13	8	11	9	2	1	2	0	1	1	1	2	3	2	2	1	1	4	3	1	1	5	4			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr1:156288708C>T	ENST00000295688.3	-	8	990	c.710G>A	c.(709-711)cGc>cAc	p.R237H	CCT3_ENST00000368261.3_Missense_Mutation_p.R192H|CCT3_ENST00000368259.2_Missense_Mutation_p.R199H|CCT3_ENST00000472765.2_Missense_Mutation_p.R192H	NM_005998.4	NP_005989.3	P49368	TCPG_HUMAN	chaperonin containing TCP1, subunit 3 (gamma)	237					'de novo' posttranslational protein folding (GO:0051084)|binding of sperm to zona pellucida (GO:0007339)|cellular protein metabolic process (GO:0044267)|protein folding (GO:0006457)	cell body (GO:0044297)|chaperonin-containing T-complex (GO:0005832)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|zona pellucida receptor complex (GO:0002199)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|unfolded protein binding (GO:0051082)			endometrium(4)|large_intestine(1)|liver(1)|lung(11)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	22	Hepatocellular(266;0.158)					CAGCACAATGCGAGGGTTCTT	0.463																																						ENST00000295688.3																			0				endometrium(4)|large_intestine(1)|liver(1)|lung(11)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	22						c.(709-711)cGc>cAc		chaperonin containing TCP1, subunit 3 (gamma)							90	84	86					1																	156288708		2203	4300	6503	SO:0001583	missense	7203				'de novo' posttranslational protein folding	cytoskeleton|cytosol|plasma membrane	ATP binding|unfolded protein binding	g.chr1:156288708C>T	BC008019	CCDS1140.2, CCDS30888.1	1q23	2011-09-02			ENSG00000163468	ENSG00000163468		"Heat Shock Proteins / Chaperonins"	1616	protein-coding gene	gene with protein product		600114		TRIC5		8110840	Standard	NM_005998		Approved	Cctg	uc001fol.2	P49368	OTTHUMG00000024061	ENST00000295688.3:c.710G>A	1.37:g.156288708C>T	ENSP00000295688:p.Arg237His					CCT3_ENST00000368259.2_Missense_Mutation_p.R199H|CCT3_ENST00000472765.2_Missense_Mutation_p.R192H|CCT3_ENST00000368261.3_Missense_Mutation_p.R192H	p.R237H	NM_005998.4	NP_005989.3	P49368	TCPG_HUMAN			8	990	-	Hepatocellular(266;0.158)		237					A6NE14|Q5SZY1|Q9BR64	Missense_Mutation	SNP	ENST00000295688.3	37	c.710G>A	CCDS1140.2	.	.	.	.	.	.	.	.	.	.	C	20.8	4.057569	0.76074	.	.	ENSG00000163468	ENST00000295688;ENST00000368259;ENST00000368261;ENST00000472765;ENST00000413555	T;T;T;T;T	0.69926	-0.44;-0.44;-0.44;-0.44;-0.44	5.94	5.04	0.67666	.	0.059794	0.64402	D	0.000010	D	0.82967	0.5152	H	0.95982	3.75	0.51482	D	0.999924	D;D;P	0.89917	1.0;1.0;0.927	D;D;P	0.70487	0.961;0.969;0.59	D	0.87752	0.2592	10	0.87932	D	0	-4.9147	11.0891	0.48104	0.0:0.9156:0.0:0.0844	.	199;236;237	P49368-2;E9PAQ6;P49368	.;.;TCPG_HUMAN	H	237;199;192;192;261	ENSP00000295688:R237H;ENSP00000357242:R199H;ENSP00000357244:R192H;ENSP00000431543:R192H;ENSP00000413308:R261H	ENSP00000295688:R237H	R	-	2	0	CCT3	154555332	1.000000	0.71417	0.935000	0.37517	0.284000	0.27059	7.458000	0.80787	1.532000	0.49169	0.643000	0.83706	CGC		0.463	CCT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060602.3	NM_005998		16	34	0	0	0	1	0	16	34					T	156288708	C	T	156288708	3	4	94	1	0	0	0	0	1	0	0	0	2954	768	27	1	955	1	CCT3	1	156288708	Missense_Mutation	SNP	C	TCGA-EJ-7782-01A-11D-2114-08	184490	156288708	92961913	35	4854											
CCDC19	25790	broad.mit.edu	37	chr1	159860404	159860404	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gggctgtcgctctggccctgGgctggggactatgagttcag	4	10	17	10	1	2	1	1	1	1	0	3	2	2	2	1	5	0	4	1	5	1	2			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr1:159860404G>C	ENST00000368099.4	-	3	202	c.138C>G	c.(136-138)gcC>gcG	p.A46A	CCDC19_ENST00000426543.2_5'UTR|CCDC19_ENST00000476696.1_5'UTR	NM_012337.2	NP_036469.2														endometrium(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	26	all_hematologic(112;0.0597)		BRCA - Breast invasive adenocarcinoma(70;0.151)			TCTGGCCCTGGGCTGGGGACT	0.532																																						ENST00000368099.4																			0				endometrium(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	26						c.(136-138)gcC>gcG		coiled-coil domain containing 19							93	94	94					1																	159860404		2203	4300	6503	SO:0001819	synonymous_variant	25790					mitochondrion|soluble fraction		g.chr1:159860404G>C																												ENST00000368099.4:c.138C>G	1.37:g.159860404G>C						CCDC19_ENST00000476696.1_5'UTR|CCDC19_ENST00000426543.2_5'UTR	p.A46A	NM_012337.2	NP_036469.2	Q9UL16	CCD19_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.151)		3	202	-	all_hematologic(112;0.0597)		46						Silent	SNP	ENST00000368099.4	37	c.138C>G	CCDS30914.1																																																																																				0.532	CCDC19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085979.1			4	55	0	0	0	1	0	4	55					C	159860404	G	C	159860404	2	2	94	1	0	0	0	0	0	0	0	1	2795	1219	43	5		5	CCDC19	1	159860404	Silent	SNP	G	TCGA-EJ-7782-01A-11D-2114-08	3571696	159860404	89390217	36	4855											
NCSTN	23385	broad.mit.edu	37	chr1	160314573	160314573	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cccttaaataaaacagctccCtgtgttcgcctgctcaacgc	10	10	6	15	2	1	0	1	0	0	0	3	0	2	0	3	0	4	3	3	0	5	3			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr1:160314573C>A	ENST00000294785.5	+	2	272	c.147C>A	c.(145-147)ccC>ccA	p.P49P	COPA_ENST00000241704.7_5'Flank|COPA_ENST00000368069.3_5'Flank|NCSTN_ENST00000535857.1_Silent_p.P49P|NCSTN_ENST00000392212.4_Silent_p.P29P|NCSTN_ENST00000368063.1_Silent_p.P29P	NM_015331.2	NP_056146.1	Q92542	NICA_HUMAN	nicastrin	49					amyloid precursor protein catabolic process (GO:0042987)|apoptotic signaling pathway (GO:0097190)|beta-amyloid metabolic process (GO:0050435)|epithelial cell proliferation (GO:0050673)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|membrane protein ectodomain proteolysis (GO:0006509)|membrane protein intracellular domain proteolysis (GO:0031293)|myeloid cell homeostasis (GO:0002262)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|positive regulation of apoptotic process (GO:0043065)|positive regulation of catalytic activity (GO:0043085)|protein processing (GO:0016485)|proteolysis (GO:0006508)|T cell proliferation (GO:0042098)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|plasma membrane (GO:0005886)	endopeptidase activity (GO:0004175)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(2)	34	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			AAACAGCTCCCTGTGTTCGCC	0.428																																						ENST00000368063.1																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(2)	34						c.(85-87)ccC>ccA		nicastrin							94	83	87					1																	160314573		2203	4300	6503	SO:0001819	synonymous_variant	23385				amyloid precursor protein catabolic process|apoptosis|induction of apoptosis by extracellular signals|membrane protein ectodomain proteolysis|membrane protein intracellular domain proteolysis|nerve growth factor receptor signaling pathway|Notch receptor processing|Notch signaling pathway|positive regulation of catalytic activity|protein processing	endoplasmic reticulum|Golgi apparatus|integral to plasma membrane|melanosome	protein binding	g.chr1:160314573C>A	AF240468	CCDS1203.1	1q22-q23	2014-09-17			ENSG00000162736	ENSG00000162736			17091	protein-coding gene	gene with protein product		605254				9039502, 10993067	Standard	XM_005245053		Approved	KIAA0253, APH2	uc001fvx.3	Q92542	OTTHUMG00000033110	ENST00000294785.5:c.147C>A	1.37:g.160314573C>A						NCSTN_ENST00000535857.1_Silent_p.P49P|NCSTN_ENST00000294785.5_Silent_p.P49P|NCSTN_ENST00000392212.4_Silent_p.P29P	p.P29P			Q92542	NICA_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)		3	367	+	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		49					Q5T207|Q5T208|Q86VV5	Silent	SNP	ENST00000294785.5	37	c.87C>A	CCDS1203.1																																																																																				0.428	NCSTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080622.1	NM_015331		4	23	1	0	0.00024832	1	0.000253761	4	23					A	160314573	C	A	160314573	2	1	94	1	0	0	0	0	0	0	0	1	10241	668	24	5		5	NCSTN	1	160314573	Silent	SNP	C	TCGA-EJ-7782-01A-11D-2114-08	454169	160314573	88936048	37	4856											
NUF2	83540	broad.mit.edu	37	chr1	163317627	163317627	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aagactgaagaaaattcgttCaaaagactgatgattgtgaa	18	10	9	4	1	1	7	1	4	0	3	2	7	1	7	0	0	0	1	0	0	7	3			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr1:163317627C>T	ENST00000271452.3	+	12	1302	c.1023C>T	c.(1021-1023)ttC>ttT	p.F341F	NUF2_ENST00000367900.3_Silent_p.F341F|NUF2_ENST00000524800.1_Silent_p.F294F	NM_145697.2	NP_663735.2	Q9BZD4	NUF2_HUMAN	NUF2, NDC80 kinetochore complex component	341	Interaction with the N-terminus of NDC80.				chromosome segregation (GO:0007059)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|membrane (GO:0016020)|Ndc80 complex (GO:0031262)|nucleus (GO:0005634)				breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(15)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35	all_hematologic(923;0.101)					AAAATTCGTTCAAAAGACTGA	0.338																																						ENST00000271452.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(15)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						c.(1021-1023)ttC>ttT		NUF2, NDC80 kinetochore complex component							83	84	83					1																	163317627		2203	4300	6503	SO:0001819	synonymous_variant	83540				cell division|chromosome segregation|mitotic prometaphase	condensed chromosome kinetochore|cytosol|Ndc80 complex|nucleus	protein binding	g.chr1:163317627C>T	BG354574	CCDS1245.1	1q23.3	2013-07-03	2013-07-03	2006-11-07	ENSG00000143228	ENSG00000143228			14621	protein-coding gene	gene with protein product	"cancer/testis antigen 106"	611772	"cell division cycle associated 1", "NUF2, NDC80 kinetochore complex component, homolog (S. cerevisiae)"	CDCA1		11266451, 11685532	Standard	NM_031423		Approved	NUF2R, CT106	uc001gcr.1	Q9BZD4	OTTHUMG00000034275	ENST00000271452.3:c.1023C>T	1.37:g.163317627C>T						NUF2_ENST00000524800.1_Silent_p.F294F|NUF2_ENST00000367900.3_Silent_p.F341F	p.F341F	NM_145697.2	NP_663735.2	Q9BZD4	NUF2_HUMAN			12	1302	+	all_hematologic(923;0.101)		341			Interaction with the N-terminus of NDC80.		Q8WU69|Q96HJ4|Q96Q78	Silent	SNP	ENST00000271452.3	37	c.1023C>T	CCDS1245.1																																																																																				0.338	NUF2-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000082812.1	NM_145697		4	34	0	0	0	1	0	4	34					T	163317627	C	T	163317627	2	4	94	1	0	0	0	0	0	0	0	1	10747	825	29	3		3	NUF2	1	163317627	Silent	SNP	C	TCGA-EJ-7782-01A-11D-2114-08	3003054	163317627	85932994	38	4857											
C1orf26	54823	broad.mit.edu	37	chr1	185259915	185259915	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acaggggatggtgtgaagacAtgctcaactataggatataa	15	9	12	5	0	1	2	1	1	0	1	1	4	1	4	0	4	2	1	0	4	6	4	rs200005543		TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr1:185259915A>G	ENST00000367500.4	+	19	2848	c.2683A>G	c.(2683-2685)Atg>Gtg	p.M895V	SWT1_ENST00000367501.3_Missense_Mutation_p.M895V	NM_017673.6	NP_060143.4	Q5T5J6	SWT1_HUMAN	SWT1 RNA endoribonuclease homolog (S. cerevisiae)	895										breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(16)|ovary(1)|prostate(1)|urinary_tract(1)	41						GTGTGAAGACATGCTCAACTA	0.403													A|||	1	0.000199681	0	0	5008	,	,		15012	0		0.001	False		,,,				2504	0					ENST00000367500.4																			0				breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(16)|ovary(1)|prostate(1)|urinary_tract(1)	41						c.(2683-2685)Atg>Gtg		SWT1 RNA endoribonuclease homolog (S. cerevisiae)		A	VAL/MET,VAL/MET	0,4406		0,0,2203	91	89	89		2683,2683	2	0	1		89	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	SWT1	NM_001105518.1,NM_017673.6	21,21	0,1,6502	GG,GA,AA		0.0116,0.0,0.0077	benign,benign	895/901,895/901	185259915	1,13005	2203	4300	6503	SO:0001583	missense	54823							g.chr1:185259915A>G	AF288392	CCDS1367.1	1q25	2013-08-29	2011-01-24	2011-01-24	ENSG00000116668	ENSG00000116668			16785	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 26"	C1orf26		11318611, 19127978, 23768067	Standard	NM_017673		Approved	FLJ20121, HsSwt1	uc001grg.4	Q5T5J6	OTTHUMG00000035390	ENST00000367500.4:c.2683A>G	1.37:g.185259915A>G	ENSP00000356470:p.Met895Val					SWT1_ENST00000367501.3_Missense_Mutation_p.M895V	p.M895V	NM_017673.6	NP_060143.4	Q5T5J6	SWT1_HUMAN			19	2848	+			895					Q8NEK9|Q9BZQ7|Q9NXQ0	Missense_Mutation	SNP	ENST00000367500.4	37	c.2683A>G	CCDS1367.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	A	1.518	-0.547793	0.04024	0.0	1.16E-4	ENSG00000116668	ENST00000367501;ENST00000367500	T;T	0.19394	2.15;2.15	5.67	2.02	0.26589	.	0.691975	0.14405	N	0.321602	T	0.12860	0.0312	L	0.27053	0.805	0.09310	N	1	B	0.10296	0.003	B	0.09377	0.004	T	0.25916	-1.0118	10	0.37606	T	0.19	.	5.6068	0.17385	0.4326:0.3484:0.219:0.0	.	895	Q5T5J6	SWT1_HUMAN	V	895	ENSP00000356471:M895V;ENSP00000356470:M895V	ENSP00000356470:M895V	M	+	1	0	SWT1	183526538	0.394000	0.25246	0.018000	0.16275	0.087000	0.18053	1.486000	0.35530	0.085000	0.17107	-0.261000	0.10672	ATG		0.403	SWT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085790.1	NM_017673		11	16	0	0	0	1	0	11	16					G	185259915	A	G	185259915	3	3	94	1	0	0	0	0	1	0	0	0	2035	217	8	4	2753	4	C1orf26	1	185259915	Missense_Mutation	SNP	A	TCGA-EJ-7782-01A-11D-2114-08	21942288	185259915	63990706	39	4858											
HMCN1	83872	broad.mit.edu	37	chr1	186009011	186009011	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agtttttctaatggattacaGgtaccttcattcatttcttt	9	20	5	7	0	4	0	2	0	2	0	4	1	4	1	1	2	2	2	1	2	3	9			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr1:186009011G>A	ENST00000271588.4	+	39	6409	c.6180G>A	c.(6178-6180)caG>caA	p.Q2060Q	HMCN1_ENST00000367492.2_Splice_Site_p.Q2060Q	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	2060	Ig-like C2-type 18.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						ATGGATTACAGGTACCTTCAT	0.413																																						ENST00000271588.4																			0				NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						c.e39+1		hemicentin 1							104	100	101					1																	186009011		2203	4300	6503	SO:0001630	splice_region_variant	83872				response to stimulus|visual perception	basement membrane	calcium ion binding	g.chr1:186009011G>A	AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"Fibulins", "Immunoglobulin superfamily / I-set domain containing"	19194	protein-coding gene	gene with protein product	"fibulin 6"	608548	"age-related macular degeneration 1 (senile macular degeneration)"	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.6180+1G>A	1.37:g.186009011G>A						HMCN1_ENST00000367492.2_Splice_Site_p.Q2060_splice	p.Q2060_splice	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN			39	6409	+			2060			Ig-like C2-type 18.		A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Splice_Site	SNP	ENST00000271588.4	37	c.6180_splice	CCDS30956.1																																																																																				0.413	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935	Silent	10	31	0	0	0	1	0	10	31					A	186009011	G	A	186009011	5	1	94	1	0	0	0	0	0	0	1	0	7220	1014	35	3	6334	3	HMCN1	1	186009011	Splice_Site	SNP	G	TCGA-EJ-7782-01A-11D-2114-08	749096	186009011	63241610	40	4859											
PRG4	10216	broad.mit.edu	37	chr1	186280171	186280171	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttccttaaattttaggtcatTatttctggatgctaagtcca	10	18	6	7	0	2	0	1	0	1	0	4	1	4	1	2	2	1	1	2	2	5	7			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr1:186280171T>C	ENST00000445192.2	+	9	3550	c.3505T>C	c.(3505-3507)Tat>Cat	p.Y1169H	PRG4_ENST00000367486.3_Missense_Mutation_p.Y1126H|PRG4_ENST00000367483.4_Missense_Mutation_p.Y1128H|PRG4_ENST00000367484.3_Missense_Mutation_p.Y698H|PRG4_ENST00000367485.4_Missense_Mutation_p.Y1076H|RNU6-1240P_ENST00000365155.1_RNA	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	1169					cell proliferation (GO:0008283)|hematopoietic stem cell proliferation (GO:0071425)|immune response (GO:0006955)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|regulation of cell proliferation (GO:0042127)	extracellular space (GO:0005615)	polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						TTTAGGTCATTATTTCTGGAT	0.368																																						ENST00000445192.2																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						c.(3505-3507)Tat>Cat		proteoglycan 4							128	123	125					1																	186280171		2203	4300	6503	SO:0001583	missense	10216				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity	g.chr1:186280171T>C	U70136	CCDS1369.1, CCDS44287.1, CCDS44288.1	1q25-q31	2008-07-18	2004-11-15		ENSG00000116690	ENSG00000116690			9364	protein-coding gene	gene with protein product	"lubricin", "megakaryocyte stimulating factor", "articular superficial zone protein", "Jacobs camptodactyly-arthropathy-pericarditis syndrome", "camptodactyly, arthropathy, coxa vara, pericarditis syndrome", "bG174L6.2 (MSF: megakaryocyte stimulating factor )"	604283	"proteoglycan 4, (megakaryocyte stimulating factor, articular superficial zone protein, camptodactyly, arthropathy, coxa vara, pericarditis syndrome)"	CACP		10545950, 9920774	Standard	NM_005807		Approved	JCAP, SZP, MSF, HAPO, bG174L6.2, FLJ32635	uc001gru.4	Q92954	OTTHUMG00000035574	ENST00000445192.2:c.3505T>C	1.37:g.186280171T>C	ENSP00000399679:p.Tyr1169His					PRG4_ENST00000367485.4_Missense_Mutation_p.Y1076H|PRG4_ENST00000367483.4_Missense_Mutation_p.Y1128H|PRG4_ENST00000367486.3_Missense_Mutation_p.Y1126H|PRG4_ENST00000367484.3_Missense_Mutation_p.Y698H	p.Y1169H	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN			9	3550	+			1169			Hemopexin-like 1.		Q6DNC4|Q6DNC5|Q6ZMZ5|Q9BX49	Missense_Mutation	SNP	ENST00000445192.2	37	c.3505T>C	CCDS1369.1	.	.	.	.	.	.	.	.	.	.	T	13.30	2.196912	0.38806	.	.	ENSG00000116690	ENST00000367486;ENST00000367484;ENST00000367483;ENST00000367485;ENST00000445192	T;T;T;T;T	0.17691	2.26;2.26;2.26;2.26;2.26	4.53	4.53	0.55603	Hemopexin/matrixin (2);	0.000000	0.39834	U	0.001241	T	0.42040	0.1185	M	0.76170	2.325	0.41800	D	0.98991	D;D;D;D	0.76494	0.999;0.999;0.999;0.999	D;D;D;D	0.83275	0.995;0.996;0.988;0.995	T	0.44982	-0.9292	10	0.87932	D	0	-6.9519	14.1672	0.65486	0.0:0.0:0.0:1.0	.	1035;1076;1169;1128	Q92954-4;Q92954-3;Q92954;Q92954-2	.;.;PRG4_HUMAN;.	H	1126;698;1128;1076;1169	ENSP00000356456:Y1126H;ENSP00000356454:Y698H;ENSP00000356453:Y1128H;ENSP00000356455:Y1076H;ENSP00000399679:Y1169H	ENSP00000356453:Y1128H	Y	+	1	0	PRG4	184546794	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.326000	0.79133	1.820000	0.53075	0.477000	0.44152	TAT		0.368	PRG4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000086346.1	NM_005807		15	40	0	0	0	1	0	15	40					C	186280171	T	C	186280171	3	2	94	1	0	0	0	0	1	0	0	0	12481	1754	61	4	3535	4	PRG4	1	186280171	Missense_Mutation	SNP	T	TCGA-EJ-7782-01A-11D-2114-08	271160	186280171	62970450	41	4860											
LAD1	3898	broad.mit.edu	37	chr1	201358366	201358366	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccgtggtggagctcaggttgCggtgccgccgcctgcgctcg	2	8	17	14	6	1	0	1	0	0	0	2	1	1	1	4	4	4	3	4	4	0	1			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr1:201358366C>T	ENST00000391967.2	-	2	405	c.104G>A	c.(103-105)cGc>cAc	p.R35H	LAD1_ENST00000367313.3_Missense_Mutation_p.R49H	NM_005558.3	NP_005549.2	O00515	LAD1_HUMAN	ladinin 1	35	Poly-Arg.					basement membrane (GO:0005604)	structural molecule activity (GO:0005198)	p.R35L(1)		breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(6)|prostate(2)|skin(2)	19						GCTCAGGTTGCGGTGCCGCCG	0.657																																						ENST00000391967.2																			1	Substitution - Missense(1)	p.R35L(1)	lung(1)	breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(6)|prostate(2)|skin(2)	19						c.(103-105)cGc>cAc		ladinin 1							57	54	55					1																	201358366		2203	4300	6503	SO:0001583	missense	3898					basement membrane	structural molecule activity	g.chr1:201358366C>T	U42408	CCDS1410.1	1q25.1-q32.3	2008-02-05			ENSG00000159166	ENSG00000159166			6472	protein-coding gene	gene with protein product		602314				8618013, 9119369	Standard	NM_005558		Approved		uc001gwm.3	O00515	OTTHUMG00000035737	ENST00000391967.2:c.104G>A	1.37:g.201358366C>T	ENSP00000375829:p.Arg35His					LAD1_ENST00000367313.3_Missense_Mutation_p.R49H	p.R35H	NM_005558.3	NP_005549.2	O00515	LAD1_HUMAN			2	405	-			35			Poly-Arg.		O95614|Q96GD8	Missense_Mutation	SNP	ENST00000391967.2	37	c.104G>A	CCDS1410.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.337466	0.81911	.	.	ENSG00000159166	ENST00000391967;ENST00000367313	T;T	0.28069	1.75;1.63	5.17	4.26	0.50523	.	0.183587	0.39615	N	0.001312	T	0.49201	0.1543	M	0.62723	1.935	0.43814	D	0.996372	D;D	0.89917	1.0;1.0	D;D	0.79108	0.992;0.975	T	0.49698	-0.8912	10	0.87932	D	0	-17.3494	9.5288	0.39180	0.0:0.9021:0.0:0.0979	.	49;35	E9PDI4;O00515	.;LAD1_HUMAN	H	35;49	ENSP00000375829:R35H;ENSP00000356282:R49H	ENSP00000356282:R49H	R	-	2	0	LAD1	199624989	0.988000	0.35896	0.958000	0.39756	0.933000	0.57130	3.996000	0.57009	1.173000	0.42796	0.643000	0.83706	CGC		0.657	LAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086946.1	NM_005558		5	24	0	0	0	1	0	5	24					T	201358366	C	T	201358366	3	4	94	1	0	0	0	0	1	0	0	0	8599	768	27	1	1485	1	LAD1	1	201358366	Missense_Mutation	SNP	C	TCGA-EJ-7782-01A-11D-2114-08	15078195	201358366	47892255	42	4861											
PLXNA2	5362	broad.mit.edu	37	chr1	208390533	208390533	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aagcccccactagcaaagccGtagatgtagaagatgtcaaa	16	6	9	10	1	1	3	1	0	0	3	1	3	1	3	3	0	3	3	3	0	7	3			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr1:208390533G>A	ENST00000367033.3	-	2	1492	c.735C>T	c.(733-735)taC>taT	p.Y245Y		NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN	plexin A2	245	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|centrosome localization (GO:0051642)|cerebellar granule cell precursor tangential migration (GO:0021935)|limb bud formation (GO:0060174)|neural tube development (GO:0021915)|pharyngeal system development (GO:0060037)|regulation of cell migration (GO:0030334)|semaphorin-plexin signaling pathway (GO:0071526)|somitogenesis (GO:0001756)	integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80				OV - Ovarian serous cystadenocarcinoma(81;0.199)		TAGCAAAGCCGTAGATGTAGA	0.537																																						ENST00000367033.3																			0				NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80						c.(733-735)taC>taT		plexin A2							159	166	163					1																	208390533		2203	4300	6503	SO:0001819	synonymous_variant	5362				axon guidance	integral to membrane|intracellular|plasma membrane		g.chr1:208390533G>A	X87831	CCDS31013.1	1q32.2	2008-07-18			ENSG00000076356	ENSG00000076356		"Plexins"	9100	protein-coding gene	gene with protein product	"plexin 2", "plexin-A2", "semaphorin receptor OCT", "transmembrane protein OCT"	601054		PLXN2		8570614	Standard	NM_025179		Approved	OCT, FLJ11751, FLJ30634, KIAA0463	uc001hgz.3	O75051	OTTHUMG00000036564	ENST00000367033.3:c.735C>T	1.37:g.208390533G>A							p.Y245Y	NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.199)	2	1492	-			245			Sema.		A2RTX9|B2RMX7|Q6UX61|Q96GN9|Q9BRL1|Q9UIW1	Silent	SNP	ENST00000367033.3	37	c.735C>T	CCDS31013.1																																																																																				0.537	PLXNA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088932.6	NM_025179		39	124	0	0	0	1	0	39	124					A	208390533	G	A	208390533	2	1	94	1	0	0	0	0	0	0	0	1	12120	1140	40	1		1	PLXNA2	1	208390533	Silent	SNP	G	TCGA-EJ-7782-01A-11D-2114-08	7032167	208390533	40860088	43	4862											
TP53BP2	7159	broad.mit.edu	37	chr1	223971888	223971888	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccaccattcgatttcatcttCgtcttccctgtggatgattg	6	16	7	12	2	3	1	1	1	2	0	6	3	4	2	3	1	0	0	3	1	0	5			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr1:223971888C>T	ENST00000343537.7	-	17	3583	c.3292G>A	c.(3292-3294)Gaa>Aaa	p.E1098K	TP53BP2_ENST00000391879.2_Missense_Mutation_p.E331K|TP53BP2_ENST00000498843.1_5'UTR|TP53BP2_ENST00000391878.2_Missense_Mutation_p.E969K	NM_001031685.2	NP_001026855.2	Q13625	ASPP2_HUMAN	tumor protein p53 binding protein 2	1092	Mediates interaction with APC2.|SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				cell cycle (GO:0007049)|central nervous system development (GO:0007417)|embryo development ending in birth or egg hatching (GO:0009792)|heart development (GO:0007507)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|negative regulation of cell cycle (GO:0045786)|positive regulation of signal transduction (GO:0009967)|response to ionizing radiation (GO:0010212)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	identical protein binding (GO:0042802)|NF-kappaB binding (GO:0051059)|SH3/SH2 adaptor activity (GO:0005070)			NS(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(2)	29				GBM - Glioblastoma multiforme(131;0.0958)		ATTTCATCTTCGTCTTCCCTG	0.448																																						ENST00000391878.2																			0				NS(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(2)	29						c.(2905-2907)Gaa>Aaa		tumor protein p53 binding protein, 2							221	204	210					1																	223971888		2203	4300	6503	SO:0001583	missense	7159				apoptosis|cell cycle|induction of apoptosis|negative regulation of cell cycle|signal transduction	nucleus|perinuclear region of cytoplasm	NF-kappaB binding|protein binding|SH3 domain binding|SH3/SH2 adaptor activity	g.chr1:223971888C>T	U09582	CCDS1538.1, CCDS44319.1	1q41	2014-06-24	2014-06-24		ENSG00000143514	ENSG00000143514		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "Ankyrin repeat domain containing"	12000	protein-coding gene	gene with protein product		602143	"tumor protein p53-binding protein, 2"			8668206, 8016121	Standard	NM_005426		Approved	PPP1R13A, ASPP2, 53BP2	uc010pvb.2	Q13625	OTTHUMG00000037379	ENST00000343537.7:c.3292G>A	1.37:g.223971888C>T	ENSP00000341957:p.Glu1098Lys					TP53BP2_ENST00000343537.7_Missense_Mutation_p.E1098K|TP53BP2_ENST00000391879.2_Missense_Mutation_p.E331K|TP53BP2_ENST00000498843.1_5'UTR	p.E969K	NM_005426.2	NP_005417.1	Q13625	ASPP2_HUMAN		GBM - Glioblastoma multiforme(131;0.0958)	18	3673	-			1092			Mediates interaction with APC2.		B4DG66|Q12892|Q86X75|Q96KQ3	Missense_Mutation	SNP	ENST00000343537.7	37	c.2905G>A	CCDS44319.1	.	.	.	.	.	.	.	.	.	.	C	17.12	3.306975	0.60305	.	.	ENSG00000143514	ENST00000391878;ENST00000343537;ENST00000391879	T;T;T	0.52057	2.22;0.68;2.22	5.97	5.97	0.96955	Src homology-3 domain (4);Spectrin alpha chain, SH3 domain (1);	0.092011	0.85682	D	0.000000	T	0.46718	0.1407	L	0.52905	1.665	0.80722	D	1	P;P	0.52463	0.953;0.904	B;B	0.38327	0.271;0.15	T	0.53201	-0.8472	10	0.62326	D	0.03	.	20.4324	0.99085	0.0:1.0:0.0:0.0	.	1098;1092	B4DG66;Q13625	.;ASPP2_HUMAN	K	969;1098;331	ENSP00000375750:E969K;ENSP00000341957:E1098K;ENSP00000375751:E331K	ENSP00000341957:E1098K	E	-	1	0	TP53BP2	222038511	1.000000	0.71417	0.340000	0.25575	0.087000	0.18053	7.792000	0.85828	2.833000	0.97629	0.585000	0.79938	GAA		0.448	TP53BP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090985.3	NM_001031685, NM_005426		32	76	0	0	0	1	0	32	76					T	223971888	C	T	223971888	3	4	94	1	0	0	0	0	1	0	0	0	16381	893	31	2	120	2	TP53BP2	1	223971888	Missense_Mutation	SNP	C	TCGA-EJ-7782-01A-11D-2114-08	15581355	223971888	25278733	44	4863											
EPHX1	2052	broad.mit.edu	37	chr1	226016443	226016443	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	caggagccatgtggctagaaAtcctcctcacttcagtgctg	9	10	10	12	0	2	1	2	0	0	1	4	2	4	2	3	2	2	2	3	2	2	2			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr1:226016443A>G	ENST00000366837.4	+	2	209	c.13A>G	c.(13-15)Atc>Gtc	p.I5V	EPHX1_ENST00000272167.5_Missense_Mutation_p.I5V	NM_000120.3	NP_000111.1	P07099	HYEP_HUMAN	epoxide hydrolase 1, microsomal (xenobiotic)	5					aromatic compound catabolic process (GO:0019439)|response to toxic substance (GO:0009636)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	cis-stilbene-oxide hydrolase activity (GO:0033961)|epoxide hydrolase activity (GO:0004301)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(7)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	28	Breast(184;0.197)					GTGGCTAGAAATCCTCCTCAC	0.587																																						ENST00000366837.4																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(7)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	28						c.(13-15)Atc>Gtc		epoxide hydrolase 1, microsomal (xenobiotic)							47	46	46					1																	226016443		2203	4300	6503	SO:0001583	missense	2052				aromatic compound catabolic process|response to toxin	endoplasmic reticulum membrane|integral to membrane|microsome	cis-stilbene-oxide hydrolase activity|epoxide hydrolase activity	g.chr1:226016443A>G	J03518	CCDS1547.1	1q42.1	2009-07-10			ENSG00000143819	ENSG00000143819	3.3.2.9		3401	protein-coding gene	gene with protein product		132810		EPHX		9925921	Standard	NM_000120		Approved		uc001hpk.3	P07099	OTTHUMG00000037743	ENST00000366837.4:c.13A>G	1.37:g.226016443A>G	ENSP00000355802:p.Ile5Val					EPHX1_ENST00000272167.5_Missense_Mutation_p.I5V	p.I5V	NM_000120.3	NP_000111.1	P07099	HYEP_HUMAN			2	209	+	Breast(184;0.197)		5					B2R8N0|Q5VTJ6|Q9NP75|Q9NPE7|Q9NQU6|Q9NQU7|Q9NQU8|Q9NQU9|Q9NQV0|Q9NQV1|Q9NQV2	Missense_Mutation	SNP	ENST00000366837.4	37	c.13A>G	CCDS1547.1	.	.	.	.	.	.	.	.	.	.	A	0.817	-0.749854	0.03041	.	.	ENSG00000143819	ENST00000445856;ENST00000272167;ENST00000448202;ENST00000366837	T;T;T;T	0.16597	2.6;3.72;2.33;3.72	5.0	1.27	0.21489	.	0.365474	0.28349	N	0.015663	T	0.11281	0.0275	L	0.45698	1.435	0.09310	N	1	B	0.14012	0.009	B	0.15870	0.014	T	0.41466	-0.9507	10	0.07644	T	0.81	-12.814	6.7093	0.23268	0.4231:0.4276:0.1493:0.0	.	5	P07099	HYEP_HUMAN	V	5	ENSP00000398491:I5V;ENSP00000272167:I5V;ENSP00000408469:I5V;ENSP00000355802:I5V	ENSP00000272167:I5V	I	+	1	0	EPHX1	224083066	0.961000	0.32948	0.335000	0.25508	0.257000	0.26127	0.908000	0.28545	-0.031000	0.13781	0.379000	0.24179	ATC		0.587	EPHX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092064.1	NM_000120		4	19	0	0	0	1	0	4	19					G	226016443	A	G	226016443	3	3	94	1	0	0	0	0	1	0	0	0	5179	101	4	4	15	4	EPHX1	1	226016443	Missense_Mutation	SNP	A	TCGA-EJ-7782-01A-11D-2114-08	2044555	226016443	23234178	45	4864											
PYCR2	29920	broad.mit.edu	37	chr1	226109030	226109030	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cagacattgtccttaagctgGcatggatgctgctccgagtc	8	11	11	11	1	0	1	0	0	0	1	3	3	2	2	2	2	3	4	2	2	1	2	rs150765933		TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr1:226109030G>A	ENST00000343818.6	-	6	823	c.675C>T	c.(673-675)tgC>tgT	p.C225C	PYCR2_ENST00000478402.1_5'UTR|RP4-559A3.7_ENST00000432920.2_Silent_p.C151C	NM_013328.2	NP_037460.2	Q96C36	P5CR2_HUMAN	pyrroline-5-carboxylate reductase family, member 2	225					L-proline biosynthetic process (GO:0055129)	cytoplasm (GO:0005737)	pyrroline-5-carboxylate reductase activity (GO:0004735)			kidney(1)|lung(3)	4	Breast(184;0.197)				L-Proline(DB00172)	CCTTAAGCTGGCATGGATGCT	0.572																																						ENST00000343818.6																			0				kidney(1)|lung(3)	4						c.(673-675)tgC>tgT		pyrroline-5-carboxylate reductase family, member 2	L-Proline(DB00172)|NADH(DB00157)						39	40	40					1																	226109030		2203	4300	6503	SO:0001819	synonymous_variant	29920				proline biosynthetic process	cytoplasm	binding|pyrroline-5-carboxylate reductase activity	g.chr1:226109030G>A	AF151351	CCDS31043.1, CCDS73039.1	1q42.13	2008-02-05			ENSG00000143811	ENSG00000143811			30262	protein-coding gene	gene with protein product						12477932	Standard	NM_013328		Approved	P5CR2	uc001hpq.4	Q96C36	OTTHUMG00000037506	ENST00000343818.6:c.675C>T	1.37:g.226109030G>A						RP4-559A3.7_ENST00000432920.2_Silent_p.C151C|PYCR2_ENST00000478402.1_5'UTR	p.C225C	NM_013328.2	NP_037460.2	Q96C36	P5CR2_HUMAN			6	823	-	Breast(184;0.197)		225					A8K798|Q7Z515|Q9Y5J4	Silent	SNP	ENST00000343818.6	37	c.675C>T	CCDS31043.1																																																																																				0.572	PYCR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091314.1	NM_013328		12	12	0	0	0	1	0	12	12					A	226109030	G	A	226109030	2	1	94	1	0	0	0	0	0	0	0	1	12856	1195	42	3		3	PYCR2	1	226109030	Silent	SNP	G	TCGA-EJ-7782-01A-11D-2114-08	92587	226109030	23141591	46	4865											
OBSCN	84033	broad.mit.edu	37	chr1	228475944	228475944	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatgtgtgagctgcagatcCgtggcctggccatggtggat	6	10	15	10	1	0	2	0	1	0	1	1	3	1	3	4	4	2	2	4	4	0	0	rs375232996		TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr1:228475944C>T	ENST00000422127.1	+	37	10038	c.9994C>T	c.(9994-9996)Cgt>Tgt	p.R3332C	OBSCN_ENST00000570156.2_Missense_Mutation_p.R3761C|OBSCN_ENST00000366709.4_Missense_Mutation_p.R451C|OBSCN_ENST00000366707.4_Missense_Mutation_p.R451C|OBSCN_ENST00000359599.6_Missense_Mutation_p.R2179C|OBSCN_ENST00000284548.11_Missense_Mutation_p.R3332C	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	3332	Ig-like 33.				apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GCTGCAGATCCGTGGCCTGGC	0.607																																						ENST00000570156.2																			0				NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223						c.(11281-11283)Cgt>Tgt		obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF		C	CYS/ARG,CYS/ARG	1,4301		0,1,2150	118	126	123		9994,9994	-0.1	0	1		123	1,8499		0,1,4249	no	missense,missense	OBSCN	NM_001098623.1,NM_052843.2	180,180	0,2,6399	TT,TC,CC		0.0118,0.0232,0.0156	benign,benign	3332/7969,3332/6621	228475944	2,12800	2151	4250	6401	SO:0001583	missense	84033				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	g.chr1:228475944C>T	AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"Rho guanine nucleotide exchange factors", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.9994C>T	1.37:g.228475944C>T	ENSP00000409493:p.Arg3332Cys					OBSCN_ENST00000366707.4_Missense_Mutation_p.R451C|OBSCN_ENST00000284548.11_Missense_Mutation_p.R3332C|OBSCN_ENST00000359599.6_Missense_Mutation_p.R2179C|OBSCN_ENST00000366709.4_Missense_Mutation_p.R451C|OBSCN_ENST00000422127.1_Missense_Mutation_p.R3332C	p.R3761C	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN			42	11355	+		Prostate(94;0.0405)	2797			Ig-like 38.		Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Missense_Mutation	SNP	ENST00000422127.1	37	c.11281C>T	CCDS58065.1	.	.	.	.	.	.	.	.	.	.	C	8.579	0.881801	0.17467	2.32E-4	1.18E-4	ENSG00000154358	ENST00000284548;ENST00000422127;ENST00000366707;ENST00000366709;ENST00000359599	T;T;T;T;T	0.68479	-0.33;-0.33;-0.33;-0.33;-0.33	5.05	-0.144	0.13440	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.790876	0.11710	N	0.537003	T	0.59390	0.2190	M	0.67397	2.05	0.21984	N	0.999439	B;B	0.15141	0.012;0.006	B;B	0.20184	0.028;0.009	T	0.50566	-0.8813	10	0.37606	T	0.19	.	5.8001	0.18410	0.1229:0.6033:0.0:0.2738	.	3332;3332	Q5VST9;Q5VST9-3	OBSCN_HUMAN;.	C	3332;3332;451;451;2179	ENSP00000284548:R3332C;ENSP00000409493:R3332C;ENSP00000355668:R451C;ENSP00000355670:R451C;ENSP00000352613:R2179C	ENSP00000284548:R3332C	R	+	1	0	OBSCN	226542567	0.000000	0.05858	0.018000	0.16275	0.011000	0.07611	-0.269000	0.08596	-0.171000	0.10797	-0.969000	0.02612	CGT		0.607	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843		17	42	0	0	0	1	0	17	42					T	228475944	C	T	228475944	3	4	94	1	0	0	0	0	1	0	0	0	10812	652	23	2	10136	2	OBSCN	1	228475944	Missense_Mutation	SNP	C	TCGA-EJ-7782-01A-11D-2114-08	2366914	228475944	20774677	47	4866											
TTC13	79573	broad.mit.edu	37	chr1	231057237	231057237	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atattctaggtatctcatgtTgatcacctgacccctataag	11	14	6	10	0	3	2	2	2	2	0	4	2	3	2	3	1	0	2	3	1	5	7			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr1:231057237T>C	ENST00000366661.4	-	16	1835	c.1828A>G	c.(1828-1830)Aac>Gac	p.N610D	TTC13_ENST00000414259.1_Missense_Mutation_p.N557D|TTC13_ENST00000366662.4_Missense_Mutation_p.N557D	NM_024525.4	NP_078801.3	Q8NBP0	TTC13_HUMAN	tetratricopeptide repeat domain 13	610										central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	39	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.167)		COAD - Colon adenocarcinoma(196;0.243)		TATCTCATGTTGATCACCTGA	0.259																																						ENST00000366661.4																			0				central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	39						c.(1828-1830)Aac>Gac		tetratricopeptide repeat domain 13							34	36	36					1																	231057237		2176	4269	6445	SO:0001583	missense	79573						binding	g.chr1:231057237T>C		CCDS1588.1, CCDS44332.1, CCDS44332.2	1q42.2	2013-01-10			ENSG00000143643	ENSG00000143643		"Tetratricopeptide (TTC) repeat domain containing"	26204	protein-coding gene	gene with protein product							Standard	NM_024525		Approved	FLJ22584	uc001huf.4	Q8NBP0	OTTHUMG00000037788	ENST00000366661.4:c.1828A>G	1.37:g.231057237T>C	ENSP00000355621:p.Asn610Asp					TTC13_ENST00000414259.1_Missense_Mutation_p.N557D|TTC13_ENST00000366662.4_Missense_Mutation_p.N557D	p.N610D	NM_024525.4	NP_078801.3	Q8NBP0	TTC13_HUMAN		COAD - Colon adenocarcinoma(196;0.243)	16	1835	-	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.167)	610					B1AQI1|B1AQI2|Q8IVP8|Q8NBI0|Q8ND20	Missense_Mutation	SNP	ENST00000366661.4	37	c.1828A>G	CCDS1588.1	.	.	.	.	.	.	.	.	.	.	T	19.35	3.810989	0.70797	.	.	ENSG00000143643	ENST00000366661;ENST00000366662;ENST00000414259;ENST00000486879	T;T;T	0.47528	0.84;0.89;0.89	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	T	0.61961	0.2389	L	0.54323	1.7	0.80722	D	1	P;D;P;P	0.69078	0.476;0.997;0.859;0.618	B;D;B;B	0.73380	0.094;0.98;0.41;0.222	T	0.56649	-0.7944	10	0.18710	T	0.47	-16.5444	15.8221	0.78662	0.0:0.0:0.0:1.0	.	535;557;557;610	Q69YR0;E9PGV4;Q8NBP0-2;Q8NBP0	.;.;.;TTC13_HUMAN	D	610;557;557;44	ENSP00000355621:N610D;ENSP00000355622:N557D;ENSP00000416631:N557D	ENSP00000355621:N610D	N	-	1	0	TTC13	229123860	1.000000	0.71417	0.997000	0.53966	0.997000	0.91878	7.779000	0.85648	2.139000	0.66308	0.533000	0.62120	AAC		0.259	TTC13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092229.2	NM_024525		6	47	0	0	0	1	0	6	47					C	231057237	T	C	231057237	3	2	94	1	0	0	0	0	1	0	0	0	16677	1812	63	4	786	4	TTC13	1	231057237	Missense_Mutation	SNP	T	TCGA-EJ-7782-01A-11D-2114-08	2581293	231057237	18193384	48	4867											
ARID4B	51742	broad.mit.edu	37	chr1	235416114	235416114	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcagtgtcttctcatctccGtcatcaaaaactatgagagg	11	12	7	11	1	6	1	4	1	3	1	8	2	6	1	1	1	1	0	1	1	3	2	rs375991062		TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr1:235416114G>A	ENST00000264183.3	-	6	782	c.285C>T	c.(283-285)gaC>gaT	p.D95D	ARID4B_ENST00000366603.2_Silent_p.D95D|ARID4B_ENST00000349213.3_Silent_p.D95D	NM_016374.5	NP_057458.4	Q4LE39	ARI4B_HUMAN	AT rich interactive domain 4B (RBP1-like)	95					histone H3-K9 trimethylation (GO:0036124)|histone H4-K20 trimethylation (GO:0034773)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|breast(2)|large_intestine(2)|lung(1)|ovary(2)	8	Ovarian(103;0.0473)|Breast(184;0.23)	all_cancers(173;0.000782)|Prostate(94;0.0132)|all_epithelial(177;0.0808)|Lung SC(1967;0.24)	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)			TCTCATCTCCGTCATCAAAAA	0.378																																						ENST00000264183.3																			0				NS(1)|breast(2)|large_intestine(2)|lung(1)|ovary(2)	8						c.(283-285)gaC>gaT		AT rich interactive domain 4B (RBP1-like)		G	,,	1,4405	2.1+/-5.4	0,1,2202	70	69	70		285,285,285	-0.6	1	1		70	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous	ARID4B	NM_001206794.1,NM_016374.5,NM_031371.3	,,	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	,,	95/1313,95/1313,95/1227	235416114	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	51742				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding	g.chr1:235416114G>A	AF214114	CCDS31060.1, CCDS31061.1	1q42.1-q43	2013-02-07	2006-11-08	2004-01-30	ENSG00000054267	ENSG00000054267		"-"	15550	protein-coding gene	gene with protein product		609696	"retinoblastoma binding protein 1-like 1", "AT rich interactive domain 4B (RBP1- like)"	RBP1L1		11481388	Standard	NM_016374		Approved	BCAA, BRCAA1, SAP180	uc001hwq.3	Q4LE39	OTTHUMG00000039621	ENST00000264183.3:c.285C>T	1.37:g.235416114G>A						ARID4B_ENST00000349213.3_Silent_p.D95D|ARID4B_ENST00000366603.2_Silent_p.D95D	p.D95D	NM_016374.5	NP_057458.4	Q4LE39	ARI4B_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)		6	782	-	Ovarian(103;0.0473)|Breast(184;0.23)	all_cancers(173;0.000782)|Prostate(94;0.0132)|all_epithelial(177;0.0808)|Lung SC(1967;0.24)	95					A1L465|Q3MHV4|Q5HY99|Q5T2C2|Q5T2C3|Q5T2C4|Q5T2C5|Q5T2C6|Q6P600|Q86UX1|Q86WR4|Q9H915|Q9NYU3|Q9NZB6|Q9NZG4|Q9P2W4|Q9UF62|Q9Y6E1	Silent	SNP	ENST00000264183.3	37	c.285C>T	CCDS31061.1																																																																																				0.378	ARID4B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095566.3	NM_016374		12	32	0	0	0	1	0	12	32					A	235416114	G	A	235416114	2	1	94	1	0	0	0	0	0	0	0	1	920	1136	40	1		1	ARID4B	1	235416114	Silent	SNP	G	TCGA-EJ-7782-01A-11D-2114-08	4358877	235416114	13834507	49	4868											
C1orf101	257044	broad.mit.edu	37	chr1	244724125	244724125	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgaccatagacagggttgaGtatacaggacaccctctgga	12	8	11	10	0	1	3	0	2	1	1	1	5	1	5	2	3	1	2	2	3	3	4			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr1:244724125G>A	ENST00000366534.4	+	10	1239	c.1185G>A	c.(1183-1185)gaG>gaA	p.E395E	C1orf101_ENST00000366531.3_Silent_p.E244E|C1orf101_ENST00000473875.1_3'UTR|C1orf101_ENST00000366533.4_Silent_p.E395E	NM_001130957.1	NP_001124429.1	Q5SY80	CA101_HUMAN	chromosome 1 open reading frame 101	395						CatSper complex (GO:0036128)				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3)	36	all_cancers(71;2.99e-05)|all_epithelial(71;0.00015)|all_neural(11;0.0269)|Breast(184;0.0654)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0874)|Lung NSC(105;0.121)		all cancers(7;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(106;0.001)|GBM - Glioblastoma multiforme(7;0.0154)			ACAGGGTTGAGTATACAGGAC	0.368																																						ENST00000366534.4																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3)	36						c.(1183-1185)gaG>gaA		chromosome 1 open reading frame 101							111	119	116					1																	244724125		2203	4300	6503	SO:0001819	synonymous_variant	257044					integral to membrane		g.chr1:244724125G>A	BC032859	CCDS1625.1, CCDS44340.1, CCDS55693.1	1q44	2012-12-20			ENSG00000179397	ENSG00000179397			28491	protein-coding gene	gene with protein product						12477932	Standard	NM_173807		Approved	MGC33370	uc001iam.3	Q5SY80	OTTHUMG00000040103	ENST00000366534.4:c.1185G>A	1.37:g.244724125G>A						C1orf101_ENST00000366531.3_Silent_p.E244E|C1orf101_ENST00000366533.4_Silent_p.E395E|C1orf101_ENST00000473875.1_3'UTR	p.E395E	NM_001130957.1	NP_001124429.1	Q5SY80	CA101_HUMAN	all cancers(7;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(106;0.001)|GBM - Glioblastoma multiforme(7;0.0154)		10	1239	+	all_cancers(71;2.99e-05)|all_epithelial(71;0.00015)|all_neural(11;0.0269)|Breast(184;0.0654)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0874)|Lung NSC(105;0.121)		395					B4DZR4|B7Z7X5|E9PEA3|Q8IYZ6	Silent	SNP	ENST00000366534.4	37	c.1185G>A	CCDS44340.1																																																																																				0.368	C1orf101-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096701.1	NM_173807		25	51	0	0	0	1	0	25	51					A	244724125	G	A	244724125	2	1	94	1	0	0	0	0	0	0	0	1	1976	1020	36	3		3	C1orf101	1	244724125	Silent	SNP	G	TCGA-EJ-7782-01A-11D-2114-08	9308011	244724125	4526496	50	4869											
OR2M2	391194	broad.mit.edu	37	chr1	248343968	248343968	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttattctggctgtcattcaCatgggatctggagagggtcg	7	13	14	7	1	4	1	2	0	2	1	5	3	4	2	0	4	0	2	0	4	1	3			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr1:248343968C>T	ENST00000359682.2	+	1	681	c.681C>T	c.(679-681)caC>caT	p.H227H		NM_001004688.1	NP_001004688.1	Q96R28	OR2M2_HUMAN	olfactory receptor, family 2, subfamily M, member 2	227						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(45)|ovary(3)|prostate(1)|skin(3)	70	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			CTGTCATTCACATGGGATCTG	0.433																																						ENST00000359682.2																			0				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(45)|ovary(3)|prostate(1)|skin(3)	70						c.(679-681)caC>caT		olfactory receptor, family 2, subfamily M, member 2							178	161	167					1																	248343968		2202	4296	6498	SO:0001819	synonymous_variant	391194				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248343968C>T	AF399616	CCDS31106.1	1q44	2012-08-09			ENSG00000198601	ENSG00000198601		"GPCR / Class A : Olfactory receptors"	8268	protein-coding gene	gene with protein product						12213199	Standard	NM_001004688		Approved	OST423, OR2M2Q	uc010pzf.2	Q96R28	OTTHUMG00000040460	ENST00000359682.2:c.681C>T	1.37:g.248343968C>T							p.H227H	NM_001004688.1	NP_001004688.1	Q96R28	OR2M2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0245)		1	681	+	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		227					A3KFT4	Silent	SNP	ENST00000359682.2	37	c.681C>T	CCDS31106.1																																																																																				0.433	OR2M2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097356.2	NM_001004688		9	167	0	0	0	1	0	9	167					T	248343968	C	T	248343968	2	4	94	1	0	0	0	0	0	0	0	1	11010	477	17	3		3	OR2M2	1	248343968	Silent	SNP	C	TCGA-EJ-7782-01A-11D-2114-08	3619843	248343968	906653	51	4870											
OR2T27	403239	broad.mit.edu	37	chr1	248813806	248813806	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caggatagtgcagagggttgCagatggctacgtagcgatca	11	8	15	7	2	1	2	1	0	0	2	1	4	1	3	0	3	4	5	0	3	3	4			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr1:248813806C>A	ENST00000344889.3	-	1	379	c.380G>T	c.(379-381)tGc>tTc	p.C127F		NM_001001824.1	NP_001001824.1	Q8NH04	O2T27_HUMAN	olfactory receptor, family 2, subfamily T, member 27	127						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|endometrium(2)|large_intestine(4)|lung(20)|skin(3)|stomach(1)	32	all_cancers(71;1.15e-05)|all_epithelial(71;5.29e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.089)|Lung NSC(105;0.0969)|Melanoma(84;0.199)	all_cancers(173;0.237)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CAGAGGGTTGCAGATGGCTAC	0.542																																						ENST00000344889.3																			0				breast(2)|endometrium(2)|large_intestine(4)|lung(20)|skin(3)|stomach(1)	32						c.(379-381)tGc>tTc		olfactory receptor, family 2, subfamily T, member 27							95	48	64					1																	248813806		2202	4270	6472	SO:0001583	missense	403239				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248813806C>A		CCDS31124.1	1q44	2012-08-09			ENSG00000187701	ENSG00000187701		"GPCR / Class A : Olfactory receptors"	31252	protein-coding gene	gene with protein product							Standard	NM_001001824		Approved		uc010pzo.2	Q8NH04	OTTHUMG00000040376	ENST00000344889.3:c.380G>T	1.37:g.248813806C>A	ENSP00000342008:p.Cys127Phe						p.C127F	NM_001001824.1	NP_001001824.1	Q8NH04	O2T27_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	379	-	all_cancers(71;1.15e-05)|all_epithelial(71;5.29e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.089)|Lung NSC(105;0.0969)|Melanoma(84;0.199)	all_cancers(173;0.237)	127						Missense_Mutation	SNP	ENST00000344889.3	37	c.380G>T	CCDS31124.1	.	.	.	.	.	.	.	.	.	.	.	10.37	1.331281	0.24167	.	.	ENSG00000187701	ENST00000344889	T	0.34472	1.36	3.3	2.36	0.29203	GPCR, rhodopsin-like superfamily (1);	0.000000	0.43416	D	0.000571	T	0.70263	0.3204	H	0.98089	4.145	0.35768	D	0.820661	D	0.89917	1.0	D	0.70487	0.969	T	0.82424	-0.0464	10	0.87932	D	0	.	11.0673	0.47982	0.187:0.813:0.0:0.0	.	127	Q8NH04	O2T27_HUMAN	F	127	ENSP00000342008:C127F	ENSP00000342008:C127F	C	-	2	0	OR2T27	246880429	0.997000	0.39634	0.070000	0.20053	0.068000	0.16541	3.751000	0.55165	0.713000	0.32060	0.194000	0.17425	TGC		0.542	OR2T27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097124.1	NM_001001824		14	117	1	0	9.16793e-09	1	9.65739e-09	14	117					A	248813806	C	A	248813806	3	1	94	1	0	0	0	0	1	0	0	0	11021	710	25	5	576	5	OR2T27	1	248813806	Missense_Mutation	SNP	C	TCGA-EJ-7782-01A-11D-2114-08	469838	248813806	436815	52	4871											
PGBD2	267002	broad.mit.edu	37	chr1	249211828	249211828	+	Frame_Shift_Del	DEL	T	T	-																															gttttctgccatatcacataTtttttgacaaggttttcaca																										TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr1:249211828delT	ENST00000329291.5	+	3	1192	c.1045delT	c.(1045-1047)tttfs	p.F350fs	PGBD2_ENST00000355360.4_Frame_Shift_Del_p.F99fs|PGBD2_ENST00000539153.1_Frame_Shift_Del_p.F347fs	NM_170725.2	NP_733843.1	Q6P3X8	PGBD2_HUMAN	piggyBac transposable element derived 2	350										NS(1)|endometrium(3)|lung(6)|ovary(1)|skin(3)	14	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.012)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			ATATCACATATTTTTTGACAA	0.438																																						ENST00000355360.4																			0				NS(1)|endometrium(3)|lung(6)|ovary(1)|skin(3)	14						c.(292-294)ttfs		piggyBac transposable element derived 2							112	116	115					1																	249211828		2203	4300	6503	SO:0001589	frameshift_variant	0							g.chr1:249211828delT	AF229602	CCDS31128.1, CCDS31129.1	1q	2008-02-05			ENSG00000185220	ENSG00000185220			19399	protein-coding gene	gene with protein product							Standard	XM_005270333		Approved		uc001ifh.3	Q6P3X8	OTTHUMG00000040424	ENST00000329291.5:c.1045delT	1.37:g.249211828delT	ENSP00000331643:p.Phe350fs					PGBD2_ENST00000539153.1_Frame_Shift_Del_p.F347fs|PGBD2_ENST00000329291.5_Frame_Shift_Del_p.F350fs	p.F99fs	NM_001017434.1	NP_001017434.1	Q6P3X8	PGBD2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		3	562	+	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.012)	350					B3KVR8|Q6MZF8	Frame_Shift_Del	DEL	ENST00000329291.5	37	c.292delT	CCDS31128.1																																																																																				0.438	PGBD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000097318.1			7	144						7	144	---	---	---	---	-	249211828	T	-	249211828	7	5	94	1	0	1	0	1	0	0	0	0	11781	1493	52	0	1051	0	PGBD2	1	249211828	Frame_Shift_Del	DEL	T	TCGA-EJ-7782-01A-11D-2114-08	398022	249211828	38793	53	4872											
DNMT3A	1788	broad.mit.edu	37	chr2	25463271	25463271	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	catctccctccttgggccgcGcatcatgcaggaggcggtag	6	8	13	14	3	2	0	1	0	1	0	4	1	3	1	3	4	1	3	3	4	1	2			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr2:25463271G>A	ENST00000264709.3	-	19	2559	c.2222C>T	c.(2221-2223)gCg>gTg	p.A741V	DNMT3A_ENST00000402667.1_Missense_Mutation_p.A518V|DNMT3A_ENST00000474887.1_5'UTR|DNMT3A_ENST00000380746.4_Missense_Mutation_p.A552V|DNMT3A_ENST00000321117.5_Missense_Mutation_p.A741V	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN	DNA (cytosine-5-)-methyltransferase 3 alpha	741	SAM-dependent MTase C5-type. {ECO:0000255|PROSITE-ProRule:PRU01016}.				C-5 methylation of cytosine (GO:0090116)|cellular response to amino acid stimulus (GO:0071230)|DNA methylation (GO:0006306)|DNA methylation involved in embryo development (GO:0043045)|DNA methylation involved in gamete generation (GO:0043046)|DNA methylation on cytosine within a CG sequence (GO:0010424)|hypermethylation of CpG island (GO:0044027)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of gene expression by genetic imprinting (GO:0006349)|S-adenosylhomocysteine metabolic process (GO:0046498)|S-adenosylmethioninamine metabolic process (GO:0046499)|spermatogenesis (GO:0007283)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|euchromatin (GO:0000791)|nuclear heterochromatin (GO:0005720)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA (cytosine-5-)-methyltransferase activity, acting on CpG substrates (GO:0051718)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|unmethylated CpG binding (GO:0045322)	p.A741V(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTTGGGCCGCGCATCATGCAG	0.572			"Mis, F, N, S"		AML																																	ENST00000264709.3				Rec	yes		2	2p23	1788	"Mis, F, N, S"	DNA (cytosine-5-)-methyltransferase 3 alpha			L			AML		1	Substitution - Missense(1)	p.A741V(1)	haematopoietic_and_lymphoid_tissue(1)	breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021						c.(2221-2223)gCg>gTg		DNA (cytosine-5-)-methyltransferase 3 alpha							83	78	79					2																	25463271		2203	4300	6503	SO:0001583	missense	1788				regulation of gene expression by genetic imprinting	cytoplasm|euchromatin|nuclear matrix	DNA (cytosine-5-)-methyltransferase activity|DNA binding|metal ion binding|protein binding	g.chr2:25463271G>A		CCDS1718.2, CCDS33157.1, CCDS46232.1	2p23	2014-09-17			ENSG00000119772	ENSG00000119772			2978	protein-coding gene	gene with protein product		602769				9662389, 10433969	Standard	NM_175630		Approved		uc002rgc.4	Q9Y6K1	OTTHUMG00000094777	ENST00000264709.3:c.2222C>T	2.37:g.25463271G>A	ENSP00000264709:p.Ala741Val					DNMT3A_ENST00000402667.1_Missense_Mutation_p.A518V|DNMT3A_ENST00000380746.4_Missense_Mutation_p.A552V|DNMT3A_ENST00000474887.1_5'UTR|DNMT3A_ENST00000321117.5_Missense_Mutation_p.A741V	p.A741V	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN			19	2559	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		741					E9PEB8|Q86TE8|Q86XF5|Q8IZV0|Q8WXU9	Missense_Mutation	SNP	ENST00000264709.3	37	c.2222C>T	CCDS33157.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.132405	0.77662	.	.	ENSG00000119772	ENST00000380746;ENST00000321117;ENST00000264709;ENST00000402667	D;D;D;D	0.96136	-3.92;-3.92;-3.92;-3.92	5.38	5.38	0.77491	.	0.047415	0.85682	D	0.000000	D	0.91123	0.7205	N	0.15975	0.35	0.80722	D	1	P;D	0.69078	0.956;0.997	B;B	0.43889	0.256;0.435	D	0.91733	0.5398	10	0.41790	T	0.15	-11.9058	17.6755	0.88229	0.0:0.0:1.0:0.0	.	741;552	Q9Y6K1;E9PEB8	DNM3A_HUMAN;.	V	552;741;741;518	ENSP00000370122:A552V;ENSP00000324375:A741V;ENSP00000264709:A741V;ENSP00000384237:A518V	ENSP00000264709:A741V	A	-	2	0	DNMT3A	25316775	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.540000	0.85666	0.561000	0.74099	GCG		0.572	DNMT3A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000211587.1	NM_022552		25	45	0	0	0	1	0	25	45					A	25463271	G	A	25463271	3	1	94	1	0	0	0	0	1	0	0	0	4676	1087	38	1	536	1	DNMT3A	2	25463271	Missense_Mutation	SNP	G	TCGA-EJ-7782-01A-11D-2114-08		25463271	217736102	54	4873											
VIT	5212	broad.mit.edu	37	chr2	37035644	37035644	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agaacaaacggcttctactcGctccacgtgcagagctggtt	10	9	10	12	3	1	2	0	0	1	2	3	2	2	2	1	2	5	5	1	2	3	3			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr2:37035644G>A	ENST00000389975.3	+	14	1676	c.1374G>A	c.(1372-1374)tcG>tcA	p.S458S	VIT_ENST00000379241.3_Silent_p.S436S|VIT_ENST00000497382.1_Silent_p.S127S|VIT_ENST00000379242.3_Silent_p.S473S|VIT_ENST00000404084.1_Silent_p.S410S|VIT_ENST00000401530.1_Silent_p.S437S	NM_001177969.1|NM_001177970.1	NP_001171440.1|NP_001171441.1	Q6UXI7	VITRN_HUMAN	vitrin	458	VWFA 1. {ECO:0000255|PROSITE- ProRule:PRU00219}.				extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	interstitial matrix (GO:0005614)	glycosaminoglycan binding (GO:0005539)			autonomic_ganglia(1)|breast(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_hematologic(82;0.248)				GCTTCTACTCGCTCCACGTGC	0.597																																						ENST00000379242.3																			0				autonomic_ganglia(1)|breast(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57						c.(1417-1419)tcG>tcA		vitrin							36	32	33					2																	37035644		2203	4300	6503	SO:0001819	synonymous_variant	5212					proteinaceous extracellular matrix		g.chr2:37035644G>A	AF063833	CCDS33180.1, CCDS54347.1, CCDS54348.1, CCDS54349.1, CCDS54350.1	2p22.2	2008-05-15			ENSG00000205221	ENSG00000205221			12697	protein-coding gene	gene with protein product							Standard	NM_001177969		Approved		uc002rpl.3	Q6UXI7	OTTHUMG00000152149	ENST00000389975.3:c.1374G>A	2.37:g.37035644G>A						VIT_ENST00000497382.1_Silent_p.S127S|VIT_ENST00000404084.1_Silent_p.S410S|VIT_ENST00000389975.3_Silent_p.S458S|VIT_ENST00000379241.3_Silent_p.S436S|VIT_ENST00000401530.1_Silent_p.S437S	p.S473S	NM_053276.3	NP_444506.2	Q6UXI7	VITRN_HUMAN			15	1721	+		all_hematologic(82;0.248)	458			VWFA 1.		A1A526|A6NKI9|A8K7Y4|E9PF47|Q6P7T3|Q96DM8|Q96DT1|Q9UDN0	Silent	SNP	ENST00000389975.3	37	c.1419G>A	CCDS54347.1																																																																																				0.597	VIT-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding				11	15	0	0	0	1	0	11	15					A	37035644	G	A	37035644	2	1	94	1	0	0	0	0	0	0	0	1	17168	1074	38	1		1	VIT	2	37035644	Silent	SNP	G	TCGA-EJ-7782-01A-11D-2114-08	11572373	37035644	206163729	55	4874											
DHX57	90957	broad.mit.edu	37	chr2	39095333	39095333	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttataatgacctggaagggCgccttgattcactgaagata	12	11	11	7	1	1	4	1	3	0	1	1	5	1	5	2	2	0	1	2	2	5	5			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr2:39095333C>T	ENST00000295373.6	-	2	341	c.215G>A	c.(214-216)cGc>cAc	p.R72H	DHX57_ENST00000479345.2_5'Flank	NM_198963.1	NP_945314.1	Q6P158	DHX57_HUMAN	DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57	72							ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(20)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	62		all_hematologic(82;0.248)				CCTGGAAGGGCGCCTTGATTC	0.458																																					Melanoma(191;1090 2095 4375 23729 47341)	ENST00000295373.6																			0				NS(2)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(20)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						c.(214-216)cGc>cAc		DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57							106	102	103					2																	39095333		2203	4300	6503	SO:0001583	missense	90957						ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding|zinc ion binding	g.chr2:39095333C>T	AF070590	CCDS1800.1	2p22.3	2008-02-05			ENSG00000163214	ENSG00000163214		"DEAH-boxes"	20086	protein-coding gene	gene with protein product							Standard	NM_198963		Approved	DDX57	uc002rrf.3	Q6P158	OTTHUMG00000102103	ENST00000295373.6:c.215G>A	2.37:g.39095333C>T	ENSP00000295373:p.Arg72His						p.R72H	NM_198963.1	NP_945314.1	Q6P158	DHX57_HUMAN			2	341	-		all_hematologic(82;0.248)	72					A2RRC7|Q53SI4|Q6P9G1|Q7Z6H3|Q8NG17|Q96M33	Missense_Mutation	SNP	ENST00000295373.6	37	c.215G>A	CCDS1800.1	.	.	.	.	.	.	.	.	.	.	C	11.29	1.594807	0.28445	.	.	ENSG00000163214	ENST00000295373	T	0.02916	4.11	4.24	-3.58	0.04597	.	0.575699	0.14206	N	0.334379	T	0.01222	0.0040	N	0.08118	0	0.09310	N	1	B;B	0.17465	0.022;0.001	B;B	0.14578	0.011;0.001	T	0.43956	-0.9359	10	0.31617	T	0.26	.	1.9332	0.03331	0.1511:0.3796:0.1035:0.3658	.	72;72	Q6P158-2;Q6P158	.;DHX57_HUMAN	H	72	ENSP00000295373:R72H	ENSP00000295373:R72H	R	-	2	0	DHX57	38948837	0.000000	0.05858	0.054000	0.19295	0.885000	0.51271	0.016000	0.13377	-0.484000	0.06763	-0.310000	0.09108	CGC		0.458	DHX57-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219940.2	NM_145646		7	57	0	0	0	1	0	7	57					T	39095333	C	T	39095333	3	4	94	1	0	0	0	0	1	0	0	0	4513	768	27	1	4037	1	DHX57	2	39095333	Missense_Mutation	SNP	C	TCGA-EJ-7782-01A-11D-2114-08	2059689	39095333	204104040	56	4875											
MSH2	4436	broad.mit.edu	37	chr2	47693894	47693895	+	Frame_Shift_Ins	INS	-	-	A																															aaaaagtccttcgtaacaatINSaaaaactttagtactgtaga																								rs63750510		TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr2:47693894_47693895insA	ENST00000233146.2	+	10	1831_1832	c.1608_1609insA	c.(1609-1611)aaafs	p.K537fs	MSH2_ENST00000406134.1_Frame_Shift_Ins_p.K537fs|MSH2_ENST00000543555.1_Frame_Shift_Ins_p.K471fs	NM_000251.2	NP_000242.1	P43246	MSH2_HUMAN	mutS homolog 2	537					ATP catabolic process (GO:0006200)|B cell differentiation (GO:0030183)|B cell mediated immunity (GO:0019724)|cell cycle arrest (GO:0007050)|determination of adult lifespan (GO:0008340)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|germ cell development (GO:0007281)|in utero embryonic development (GO:0001701)|intra-S DNA damage checkpoint (GO:0031573)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|isotype switching (GO:0045190)|maintenance of DNA repeat elements (GO:0043570)|male gonad development (GO:0008584)|meiotic gene conversion (GO:0006311)|meiotic mismatch repair (GO:0000710)|mismatch repair (GO:0006298)|negative regulation of DNA recombination (GO:0045910)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of reciprocal meiotic recombination (GO:0045128)|oxidative phosphorylation (GO:0006119)|positive regulation of helicase activity (GO:0051096)|postreplication repair (GO:0006301)|response to UV-B (GO:0010224)|response to X-ray (GO:0010165)|somatic hypermutation of immunoglobulin genes (GO:0016446)|somatic recombination of immunoglobulin gene segments (GO:0016447)	membrane (GO:0016020)|MutSalpha complex (GO:0032301)|MutSbeta complex (GO:0032302)|nuclear chromosome (GO:0000228)	ATP binding (GO:0005524)|centromeric DNA binding (GO:0019237)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|double-strand/single-strand DNA junction binding (GO:0000406)|enzyme binding (GO:0019899)|guanine/thymine mispair binding (GO:0032137)|heteroduplex DNA loop binding (GO:0000404)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|Y-form DNA binding (GO:0000403)	p.0?(2)|p.?(2)		NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(5)|large_intestine(50)|lung(18)|ovary(5)|prostate(2)|skin(3)|small_intestine(1)|stomach(2)|urinary_tract(1)	112		all_hematologic(82;0.0359)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			TTCGTAACAATAAAAACTTTAG	0.342			"D, Mis, N, F, S"		"colorectal, endometrial, ovarian"	"colorectal, endometrial, ovarian"		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome																													ENST00000406134.1			yes	Rec	yes	Hereditary non-polyposis colorectal cancer	2	2p22-p21	4436	"D, Mis, N, F, S"	mutS homolog 2 (E. coli)			E		"colorectal, endometrial, ovarian"	"colorectal, endometrial, ovarian"		4	Whole gene deletion(2)|Unknown(2)	p.0?(2)|p.?(2)	haematopoietic_and_lymphoid_tissue(3)|prostate(1)	NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(5)|large_intestine(50)|lung(18)|ovary(5)|prostate(2)|skin(3)|small_intestine(1)|stomach(2)|urinary_tract(1)	112						c.(1606-1611)aaaaaafs	Mismatch excision repair (MMR)	mutS homolog 2																																				SO:0001589	frameshift_variant	4436	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome; ;Hereditary Non-Polyposis Colorectal Cancer, HNPCC, Lynch syndromes 1 and 2 (= Cancer Family Syndrome), Hereditary Mismatch Repair Deficiency syndrome, HMRDS;Mismatch Repair Cancer syndrome, MMRCS, Childhood Cancer Syndrome, CCS, Biallelic Mismatch Repair Gene Mutations Associated Early Onset Cancer, Lynch syndrome type III	B cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|double-strand break repair|intra-S DNA damage checkpoint|isotype switching|maintenance of DNA repeat elements|male gonad development|meiotic gene conversion|meiotic mismatch repair|negative regulation of neuron apoptosis|negative regulation of reciprocal meiotic recombination|positive regulation of helicase activity|postreplication repair|response to UV-B|response to X-ray|somatic hypermutation of immunoglobulin genes	MutSalpha complex|MutSbeta complex|nuclear chromosome	ATP binding|DNA-dependent ATPase activity|double-strand/single-strand DNA junction binding|guanine/thymine mispair binding|loop DNA binding|protein C-terminus binding|protein homodimerization activity|protein kinase binding|Y-form DNA binding	g.chr2:47693894_47693895insA	U03911	CCDS1834.1, CCDS58709.1	2p21	2014-09-17	2013-09-12		ENSG00000095002	ENSG00000095002			7325	protein-coding gene	gene with protein product		609309	"mutS (E. coli) homolog 2 (colon cancer, nonpolyposis type 1)", "mutS homolog 2, colon cancer, nonpolyposis type 1 (E. coli)"	COCA1		8484120, 9843200	Standard	NM_000251		Approved	HNPCC, HNPCC1	uc002rvy.2	P43246	OTTHUMG00000128861	ENST00000233146.2:c.1613dupA	2.37:g.47693899_47693899dupA	ENSP00000233146:p.Lys537fs					MSH2_ENST00000543555.1_Frame_Shift_Ins_p.KK470fs|MSH2_ENST00000233146.2_Frame_Shift_Ins_p.KK536fs	p.KK536fs			P43246	MSH2_HUMAN	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		10	1670_1671	+		all_hematologic(82;0.0359)|Acute lymphoblastic leukemia(82;0.175)	536					B4E2Z2|O75488	Frame_Shift_Ins	INS	ENST00000233146.2	37	c.1608_1609insA	CCDS1834.1																																																																																				0.342	MSH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250805.3			22	40						22	40	---	---	---	---	A	47693895	-	A	47693894	7	5	94	1	0	1	1	0	0	0	0	0	9870	1403	49	0	1646	0	MSH2	2	47693894	Frame_Shift_Ins	INS	-	TCGA-EJ-7782-01A-11D-2114-08	8598561	47693894	195505479	57	4876											
APLF	200558	broad.mit.edu	37	chr2	68717386	68717386	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcaggtggtcagctgcgaaTcaaaccggtaaatatgttat	12	10	12	7	2	2	0	2	0	0	0	2	1	2	0	1	4	3	4	1	4	6	3			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr2:68717386T>C	ENST00000303795.4	+	2	332	c.161T>C	c.(160-162)aTc>aCc	p.I54T		NM_173545.2	NP_775816.1	Q8IW19	APLF_HUMAN	aprataxin and PNKP like factor	54	FHA-like.				cellular response to DNA damage stimulus (GO:0006974)|DNA catabolic process, endonucleolytic (GO:0000737)|double-strand break repair (GO:0006302)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|positive regulation of DNA ligation (GO:0051106)|regulation of isotype switching (GO:0045191)|single strand break repair (GO:0000012)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)	3'-5' exonuclease activity (GO:0008408)|DNA-(apurinic or apyrimidinic site) lyase activity (GO:0003906)|endodeoxyribonuclease activity (GO:0004520)|metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(9)|ovary(3)|prostate(1)|skin(1)	25						CAGCTGCGAATCAAACCGGTA	0.368																																						ENST00000303795.4																			0				autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(9)|ovary(3)|prostate(1)|skin(1)	25						c.(160-162)aTc>aCc		aprataxin and PNKP like factor							84	85	85					2																	68717386		2203	4300	6503	SO:0001583	missense	200558				double-strand break repair|single strand break repair	cytosol|nucleus	3'-5' exonuclease activity|DNA-(apurinic or apyrimidinic site) lyase activity|endodeoxyribonuclease activity|metal ion binding|nucleotide binding|protein binding	g.chr2:68717386T>C	BC030711	CCDS1888.1	2p14	2014-02-20	2008-10-01	2008-10-01	ENSG00000169621	ENSG00000169621			28724	protein-coding gene	gene with protein product	"XRCC1-interacting protein 1", "zinc finger, CX5CX6HX5H motif containing 1"	611035	"chromosome 2 open reading frame 13"	C2orf13		18474613, 18077224, 17353262	Standard	NM_173545		Approved	MGC47799, Xip1, ZCCHH1	uc002sep.3	Q8IW19	OTTHUMG00000129566	ENST00000303795.4:c.161T>C	2.37:g.68717386T>C	ENSP00000307004:p.Ile54Thr						p.I54T	NM_173545.2	NP_775816.1	Q8IW19	APLF_HUMAN			2	332	+			54			FHA-like.		A8K476|Q53P47|Q53PB9|Q53QU0	Missense_Mutation	SNP	ENST00000303795.4	37	c.161T>C	CCDS1888.1	.	.	.	.	.	.	.	.	.	.	t	20.3	3.971371	0.74246	.	.	ENSG00000169621	ENST00000303795	T	0.26957	1.7	5.93	5.93	0.95920	Forkhead-associated (FHA) domain (1);SMAD/FHA domain (1);	0.056194	0.64402	D	0.000001	T	0.51856	0.1699	M	0.78637	2.42	0.43857	D	0.996453	D	0.76494	0.999	D	0.85130	0.997	T	0.56226	-0.8014	10	0.87932	D	0	.	12.7716	0.57423	0.0:0.0:0.0:1.0	.	54	Q8IW19	APLF_HUMAN	T	54	ENSP00000307004:I54T	ENSP00000307004:I54T	I	+	2	0	APLF	68570890	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.902000	0.56310	2.271000	0.75665	0.533000	0.62120	ATC		0.368	APLF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251759.1	NM_173545		3	8	0	0	0	1	0	3	8					C	68717386	T	C	68717386	3	2	94	1	0	0	0	0	1	0	0	0	776	1435	50	4	167	4	APLF	2	68717386	Missense_Mutation	SNP	T	TCGA-EJ-7782-01A-11D-2114-08	21023492	68717386	174481987	58	4877											
DNAH6	1768	broad.mit.edu	37	chr2	84800604	84800604	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	catttaggaaaccattcaggCcgcatttgaatcagcccgca	12	9	8	12	2	2	1	2	1	0	0	2	2	2	2	3	2	2	2	3	2	3	4			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr2:84800604C>T	ENST00000237449.6	+	11	1825	c.1817C>T	c.(1816-1818)gCc>gTc	p.A606V	DNAH6_ENST00000398278.2_Missense_Mutation_p.A606V|DNAH6_ENST00000389394.3_Missense_Mutation_p.A606V			Q9C0G6	DYH6_HUMAN	dynein, axonemal, heavy chain 6	606	Stem. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(2)|breast(9)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	57						ACCATTCAGGCCGCATTTGAA	0.328																																						ENST00000389394.3																			0				NS(2)|breast(9)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	57						c.(1816-1818)gCc>gTc		dynein, axonemal, heavy chain 6							82	85	84					2																	84800604		2203	4300	6503	SO:0001583	missense	1768				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr2:84800604C>T	U61736	CCDS46348.1	2p11.2	2011-05-24	2006-09-04		ENSG00000115423	ENSG00000115423		"Axonemal dyneins"	2951	protein-coding gene	gene with protein product		603336	"dynein, axonemal, heavy polypeptide 6", "dynein heavy chain-like 1"	DNHL1		8812413	Standard	NM_001370		Approved	Dnahc6, HL-2, FLJ37357	uc010fgb.3	Q9C0G6	OTTHUMG00000128957	ENST00000237449.6:c.1817C>T	2.37:g.84800604C>T	ENSP00000237449:p.Ala606Val					DNAH6_ENST00000398278.2_Missense_Mutation_p.A606V|DNAH6_ENST00000237449.6_Missense_Mutation_p.A606V	p.A606V	NM_001370.1	NP_001361.1	Q9C0G6	DYH6_HUMAN			12	1954	+			606			Stem (By similarity).		A0PJN9|B5MEE0|B7ZL99|O95493|Q53QZ1|Q53TE5|Q8N1W6|Q92861|Q96BL6|Q9H030|Q9H5E1	Missense_Mutation	SNP	ENST00000237449.6	37	c.1817C>T	CCDS46348.1	.	.	.	.	.	.	.	.	.	.	C	1.990	-0.432042	0.04669	.	.	ENSG00000115423	ENST00000389394;ENST00000398278;ENST00000237449	T;T;T	0.25250	1.81;1.94;1.81	4.95	4.04	0.47022	.	0.461095	0.18150	N	0.150133	T	0.19967	0.0480	L	0.44542	1.39	0.25269	N	0.989534	B;B	0.30973	0.005;0.302	B;B	0.27500	0.004;0.08	T	0.13656	-1.0501	10	0.17369	T	0.5	.	11.28	0.49188	0.3315:0.6685:0.0:0.0	.	606;185	Q9C0G6;Q9C0G6-3	DYH6_HUMAN;.	V	606	ENSP00000374045:A606V;ENSP00000381326:A606V;ENSP00000237449:A606V	ENSP00000237449:A606V	A	+	2	0	DNAH6	84654115	0.993000	0.37304	0.995000	0.50966	0.071000	0.16799	1.931000	0.40134	1.006000	0.39211	0.491000	0.48974	GCC		0.328	DNAH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328537.2	NM_001370		8	54	0	0	0	1	0	8	54					T	84800604	C	T	84800604	3	4	94	1	0	0	0	0	1	0	0	0	4605	739	26	3	1859	3	DNAH6	2	84800604	Missense_Mutation	SNP	C	TCGA-EJ-7782-01A-11D-2114-08	16083218	84800604	158398769	59	4878											
SNRNP200	23020	broad.mit.edu	37	chr2	96955623	96955623	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atgaaccagatctagtcggcGctggtccagcaggggatctc	9	8	13	11	2	2	2	0	1	2	1	5	3	3	3	2	4	2	2	2	4	2	1			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr2:96955623G>A	ENST00000323853.5	-	21	2931	c.2854C>T	c.(2854-2856)Cgc>Tgc	p.R952C	SNRNP200_ENST00000349783.5_Intron	NM_014014.4	NP_054733.2	O75643	U520_HUMAN	small nuclear ribonucleoprotein 200kDa (U5)	952					ATP catabolic process (GO:0006200)|cis assembly of pre-catalytic spliceosome (GO:0000354)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|osteoblast differentiation (GO:0001649)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U5 snRNP (GO:0005682)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|ATP-dependent RNA helicase activity (GO:0004004)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|lung(37)|ovary(7)|prostate(4)|skin(5)|stomach(1)|urinary_tract(1)	90						TCTAGTCGGCGCTGGTCCAGC	0.552																																						ENST00000323853.5																			0				breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|lung(37)|ovary(7)|prostate(4)|skin(5)|stomach(1)|urinary_tract(1)	90						c.(2854-2856)Cgc>Tgc		small nuclear ribonucleoprotein 200kDa (U5)							114	110	111					2																	96955623		2203	4300	6503	SO:0001583	missense	23020					catalytic step 2 spliceosome|nucleoplasm|U5 snRNP	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding	g.chr2:96955623G>A	AL831994	CCDS2020.1	2q11.2	2013-05-13	2008-10-29	2008-10-29	ENSG00000144028	ENSG00000144028			30859	protein-coding gene	gene with protein product	"U5 snRNP specific protein, 200 KD"	601664	"activating signal cointegrator 1 complex subunit 3-like 1", "retinitis pigmentosa 33 (autosomal dominant)"	ASCC3L1, RP33		9872452, 8670905, 9774689, 9539711, 16612614, 19878916	Standard	NM_014014		Approved	U5-200KD, HELIC2, KIAA0788, BRR2	uc002svu.3	O75643	OTTHUMG00000130455	ENST00000323853.5:c.2854C>T	2.37:g.96955623G>A	ENSP00000317123:p.Arg952Cys					SNRNP200_ENST00000349783.5_Intron	p.R952C	NM_014014.4	NP_054733.2	O75643	U520_HUMAN			21	2931	-			952					O94884|Q6NZY0|Q6PX59|Q8NBE6|Q96IF2|Q9H7S0	Missense_Mutation	SNP	ENST00000323853.5	37	c.2854C>T	CCDS2020.1	.	.	.	.	.	.	.	.	.	.	G	25.6	4.650904	0.87958	.	.	ENSG00000144028	ENST00000323853;ENST00000540328	T	0.44083	0.93	5.67	4.78	0.61160	.	0.061238	0.64402	D	0.000005	T	0.68659	0.3025	H	0.95539	3.685	0.80722	D	1	D	0.57899	0.981	P	0.58266	0.836	T	0.76806	-0.2823	10	0.72032	D	0.01	-12.2051	10.5843	0.45273	0.0:0.1445:0.7056:0.1499	.	952	O75643	U520_HUMAN	C	952;627	ENSP00000317123:R952C	ENSP00000317123:R952C	R	-	1	0	SNRNP200	96319350	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.343000	0.72986	1.373000	0.46208	0.655000	0.94253	CGC		0.552	SNRNP200-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252846.2	NM_014014		5	73	0	0	0	1	0	5	73					A	96955623	G	A	96955623	3	1	94	1	0	0	0	0	1	0	0	0	14852	1087	38	1	3656	1	SNRNP200	2	96955623	Missense_Mutation	SNP	G	TCGA-EJ-7782-01A-11D-2114-08	12155019	96955623	146243750	60	4879											
TMEM131	23505	broad.mit.edu	37	chr2	98418415	98418415	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tctatctttgccaccttactCaagttaaacctaaaacaaaa	16	12	2	11	0	3	0	1	0	2	0	3	0	3	0	3	0	4	1	3	0	9	5			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr2:98418415C>G	ENST00000186436.5	-	25	2889	c.2661G>C	c.(2659-2661)ttG>ttC	p.L887F		NM_015348.1	NP_056163.1	Q92545	TM131_HUMAN	transmembrane protein 131	887						integral component of membrane (GO:0016021)				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(4)|prostate(1)|skin(1)|stomach(1)	57						CCACCTTACTCAAGTTAAACC	0.299																																						ENST00000186436.5																			0				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(4)|prostate(1)|skin(1)|stomach(1)	57						c.(2659-2661)ttG>ttC		transmembrane protein 131							81	79	79					2																	98418415		1822	4073	5895	SO:0001583	missense	23505					integral to membrane		g.chr2:98418415C>G	AK025852	CCDS46368.1	2q11.2	2006-04-12			ENSG00000075568	ENSG00000075568			30366	protein-coding gene	gene with protein product		615659				9039502, 10996388	Standard	NM_015348		Approved	CC28, YR-23, RW1, KIAA0257, PRO1048	uc002syh.4	Q92545	OTTHUMG00000153061	ENST00000186436.5:c.2661G>C	2.37:g.98418415C>G	ENSP00000186436:p.Leu887Phe						p.L887F	NM_015348.1	NP_056163.1	Q92545	TM131_HUMAN			25	2889	-			887						Missense_Mutation	SNP	ENST00000186436.5	37	c.2661G>C	CCDS46368.1	.	.	.	.	.	.	.	.	.	.	C	16.75	3.208394	0.58343	.	.	ENSG00000075568	ENST00000186436	T	0.34667	1.35	5.87	4.0	0.46444	.	0.071579	0.56097	D	0.000037	T	0.30727	0.0774	L	0.50333	1.59	0.80722	D	1	P	0.45902	0.868	B	0.42319	0.383	T	0.03503	-1.1030	10	0.33141	T	0.24	-10.2834	7.2626	0.26212	0.1333:0.7226:0.0:0.1442	.	887	Q92545	TM131_HUMAN	F	887	ENSP00000186436:L887F	ENSP00000186436:L887F	L	-	3	2	TMEM131	97784847	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	1.595000	0.36708	0.752000	0.32923	0.591000	0.81541	TTG		0.299	TMEM131-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329285.2	XM_371542		10	15	0	0	0	1	0	10	15					G	98418415	C	G	98418415	3	3	94	1	0	0	0	0	1	0	0	0	16041	825	29	5	3058	5	TMEM131	2	98418415	Missense_Mutation	SNP	C	TCGA-EJ-7782-01A-11D-2114-08	1462792	98418415	144780958	61	4880											
PDCL3	79031	broad.mit.edu	37	chr2	101183001	101183001	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctgaatggaatgacatcttaCgcaaaaagggtatcttaccc	14	10	8	9	1	2	2	0	2	2	0	2	3	2	3	1	2	2	2	1	2	7	3			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr2:101183001C>T	ENST00000264254.6	+	2	421	c.43C>T	c.(43-45)Cgc>Tgc	p.R15C		NM_024065.4	NP_076970.1	Q9H2J4	PDCL3_HUMAN	phosducin-like 3	15					angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000059)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell proliferation (GO:0001938)|protein folding (GO:0006457)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|viral process (GO:0016032)	cytoplasm (GO:0005737)	protein binding involved in protein folding (GO:0044183)			endometrium(3)|large_intestine(2)|liver(1)|lung(6)	12						TGACATCTTACGCAAAAAGGG	0.517																																						ENST00000264254.6																			0				endometrium(3)|large_intestine(2)|liver(1)|lung(6)	12						c.(43-45)Cgc>Tgc		phosducin-like 3							89	81	84					2																	101183001		2203	4300	6503	SO:0001583	missense	79031				apoptosis|interspecies interaction between organisms	cytoplasm	protein binding	g.chr2:101183001C>T	AF267853	CCDS33261.1	2q12	2008-02-05			ENSG00000115539	ENSG00000115539			28860	protein-coding gene	gene with protein product		611678					Standard	NM_024065		Approved	VIAF1	uc002tao.2	Q9H2J4	OTTHUMG00000153141	ENST00000264254.6:c.43C>T	2.37:g.101183001C>T	ENSP00000264254:p.Arg15Cys						p.R15C	NM_024065.4	NP_076970.1	Q9H2J4	PDCL3_HUMAN			2	421	+			15					B2RA00|Q53S68	Missense_Mutation	SNP	ENST00000264254.6	37	c.43C>T	CCDS33261.1	.	.	.	.	.	.	.	.	.	.	.	21.2	4.113984	0.77210	.	.	ENSG00000115539	ENST00000264254	T	0.15718	2.4	4.61	4.61	0.57282	Thioredoxin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.46639	0.1403	H	0.94183	3.505	0.80722	D	1	D	0.65815	0.995	P	0.53102	0.718	T	0.66976	-0.5787	10	0.87932	D	0	-2.0956	17.4392	0.87561	0.0:1.0:0.0:0.0	.	15	Q9H2J4	PDCL3_HUMAN	C	15	ENSP00000264254:R15C	ENSP00000264254:R15C	R	+	1	0	PDCL3	100549433	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	3.965000	0.56788	2.128000	0.65567	0.442000	0.29010	CGC		0.517	PDCL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329734.1	NM_024065		8	58	0	0	0	1	0	8	58					T	101183001	C	T	101183001	3	4	94	1	0	0	0	0	1	0	0	0	11628	536	19	1	49	1	PDCL3	2	101183001	Missense_Mutation	SNP	C	TCGA-EJ-7782-01A-11D-2114-08	2764586	101183001	142016372	62	4881											
ZC3H6	376940	broad.mit.edu	37	chr2	113069447	113069447	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cttgccgaagaaaatcaaacGaaaagaacgtgggggaagaa	19	4	12	6	3	1	3	1	0	0	3	1	6	1	4	1	2	3	0	1	2	9	1			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr2:113069447G>A	ENST00000409871.1	+	5	1081	c.680G>A	c.(679-681)cGa>cAa	p.R227Q	ZC3H6_ENST00000343936.4_Missense_Mutation_p.R227Q	NM_198581.2	NP_940983.2	P61129	ZC3H6_HUMAN	zinc finger CCCH-type containing 6	227							metal ion binding (GO:0046872)	p.R227Q(1)		central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(4)|prostate(2)	35						AAAATCAAACGAAAAGAACGT	0.368																																						ENST00000409871.1																			1	Substitution - Missense(1)	p.R227Q(1)	large_intestine(1)	central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(4)|prostate(2)	35						c.(679-681)cGa>cAa		zinc finger CCCH-type containing 6							74	77	76					2																	113069447		1837	4084	5921	SO:0001583	missense	376940						nucleic acid binding|zinc ion binding	g.chr2:113069447G>A	AK123404	CCDS46393.1	2q13	2012-07-05	2005-06-02	2005-06-02	ENSG00000188177	ENSG00000188177		"Zinc fingers, CCCH-type domain containing"	24762	protein-coding gene	gene with protein product			"zinc finger CCCH-type domain containing 6"	ZC3HDC6			Standard	NM_198581		Approved	FLJ41410, FLJ45877, KIAA2035	uc002thq.1	P61129	OTTHUMG00000153286	ENST00000409871.1:c.680G>A	2.37:g.113069447G>A	ENSP00000386764:p.Arg227Gln					ZC3H6_ENST00000343936.4_Missense_Mutation_p.R227Q	p.R227Q	NM_198581.2	NP_940983.2	P61129	ZC3H6_HUMAN			5	1081	+			227					A9JR71|Q6ZW96	Missense_Mutation	SNP	ENST00000409871.1	37	c.680G>A	CCDS46393.1	.	.	.	.	.	.	.	.	.	.	G	23.6	4.437117	0.83885	.	.	ENSG00000188177	ENST00000409871;ENST00000343936;ENST00000542974	T;T	0.15718	2.4;2.4	4.98	4.98	0.66077	.	0.414610	0.23752	N	0.044912	T	0.29028	0.0721	M	0.71581	2.175	0.33744	D	0.619769	D	0.62365	0.991	P	0.51895	0.683	T	0.44847	-0.9301	10	0.49607	T	0.09	-11.0204	10.8063	0.46520	0.0887:0.0:0.9113:0.0	.	227	P61129	ZC3H6_HUMAN	Q	227;227;204	ENSP00000386764:R227Q;ENSP00000340298:R227Q	ENSP00000340298:R227Q	R	+	2	0	ZC3H6	112785918	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	4.071000	0.57556	2.473000	0.83533	0.462000	0.41574	CGA		0.368	ZC3H6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330551.1	NM_198581		9	21	0	0	0	1	0	9	21					A	113069447	G	A	113069447	3	1	94	1	0	0	0	0	1	0	0	0	17568	1058	37	2	698	2	ZC3H6	2	113069447	Missense_Mutation	SNP	G	TCGA-EJ-7782-01A-11D-2114-08	11886446	113069447	130129926	63	4882											
EPB41L5	57669	broad.mit.edu	37	chr2	120776691	120776691	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttccgtagaacactagggCgtcggtctatgcgtaaacat	10	11	10	10	4	2	1	0	0	2	1	4	1	3	1	1	2	3	2	1	2	6	5			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr2:120776691C>T	ENST00000263713.5	+	2	245	c.31C>T	c.(31-33)Cgt>Tgt	p.R11C	EPB41L5_ENST00000443902.2_Missense_Mutation_p.R11C|EPB41L5_ENST00000452780.1_Missense_Mutation_p.R11C|EPB41L5_ENST00000443124.1_Missense_Mutation_p.R11C|EPB41L5_ENST00000331393.4_Missense_Mutation_p.R11C	NM_020909.3	NP_065960.2	Q9HCM4	E41L5_HUMAN	erythrocyte membrane protein band 4.1 like 5	11					actomyosin structure organization (GO:0031032)|apical constriction (GO:0003383)|axial mesoderm morphogenesis (GO:0048319)|cellular response to transforming growth factor beta stimulus (GO:0071560)|ectoderm development (GO:0007398)|embryonic foregut morphogenesis (GO:0048617)|endoderm development (GO:0007492)|epithelial to mesenchymal transition (GO:0001837)|in utero embryonic development (GO:0001701)|left/right axis specification (GO:0070986)|mesoderm migration involved in gastrulation (GO:0007509)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of protein binding (GO:0032091)|neural plate morphogenesis (GO:0001839)|paraxial mesoderm development (GO:0048339)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of protein binding (GO:0032092)|posttranscriptional regulation of gene expression (GO:0010608)|regulation of establishment of protein localization (GO:0070201)|somite rostral/caudal axis specification (GO:0032525)|substrate-dependent cell migration, cell attachment to substrate (GO:0006931)|unidimensional cell growth (GO:0009826)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(5)|lung(12)|ovary(1)	26						AACACTAGGGCGTCGGTCTAT	0.453																																						ENST00000263713.5																			0				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(5)|lung(12)|ovary(1)	26						c.(31-33)Cgt>Tgt		erythrocyte membrane protein band 4.1 like 5							199	195	196					2																	120776691		2203	4300	6503	SO:0001583	missense	57669					cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding	g.chr2:120776691C>T	AK023019	CCDS2130.1, CCDS54392.1, CCDS54393.1	2q14.2	2009-07-28			ENSG00000115109	ENSG00000115109			19819	protein-coding gene	gene with protein product		611730					Standard	NM_001184937		Approved	KIAA1548, FLJ12957, BE37, YMO1	uc002tmg.3	Q9HCM4	OTTHUMG00000131433	ENST00000263713.5:c.31C>T	2.37:g.120776691C>T	ENSP00000263713:p.Arg11Cys					EPB41L5_ENST00000443124.1_Missense_Mutation_p.R11C|EPB41L5_ENST00000443902.2_Missense_Mutation_p.R11C|EPB41L5_ENST00000452780.1_Missense_Mutation_p.R11C|EPB41L5_ENST00000331393.4_Missense_Mutation_p.R11C	p.R11C	NM_020909.3	NP_065960.2	Q9HCM4	E41L5_HUMAN			2	245	+			11					Q7Z5S1|Q8IZ12|Q9H975	Missense_Mutation	SNP	ENST00000263713.5	37	c.31C>T	CCDS2130.1	.	.	.	.	.	.	.	.	.	.	C	18.15	3.560637	0.65538	.	.	ENSG00000115109	ENST00000263713;ENST00000443902;ENST00000331393;ENST00000443124;ENST00000452780	D;D;D;D;D	0.85861	-2.01;-2.04;-1.96;-1.96;-2.01	5.12	5.12	0.69794	.	0.000000	0.64402	D	0.000001	D	0.89114	0.6623	L	0.32530	0.975	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;0.984;1.0	D	0.90415	0.4412	10	0.87932	D	0	.	18.9431	0.92611	0.0:1.0:0.0:0.0	.	11;11;11	Q9HCM4-4;Q9HCM4-2;Q9HCM4	.;.;E41L5_HUMAN	C	11	ENSP00000263713:R11C;ENSP00000393856:R11C;ENSP00000329687:R11C;ENSP00000393722:R11C;ENSP00000390439:R11C	ENSP00000263713:R11C	R	+	1	0	EPB41L5	120493161	1.000000	0.71417	0.895000	0.35142	0.583000	0.36354	4.351000	0.59398	2.552000	0.86080	0.650000	0.86243	CGT		0.453	EPB41L5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254230.2	NM_020909		10	124	0	0	0	1	0	10	124					T	120776691	C	T	120776691	3	4	94	1	0	0	0	0	1	0	0	0	5157	768	27	1	33	1	EPB41L5	2	120776691	Missense_Mutation	SNP	C	TCGA-EJ-7782-01A-11D-2114-08	7707244	120776691	122422682	64	4883											
GLI2	2736	broad.mit.edu	37	chr2	121708835	121708835	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcaggccccctgccctcagcGgcagccctgtcatctctgac	5	7	10	19	1	3	1	2	1	1	0	4	1	3	1	4	2	3	2	4	2	0	0	rs540240518		TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr2:121708835G>A	ENST00000452319.1	+	4	331	c.271G>A	c.(271-273)Ggc>Agc	p.G91S	GLI2_ENST00000435313.2_3'UTR|GLI2_ENST00000314490.11_5'UTR|GLI2_ENST00000361492.4_Missense_Mutation_p.G91S					GLI family zinc finger 2											NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(3;0.0496)	Prostate(154;0.0623)				TGCCCTCAGCGGCAGCCCTGT	0.632													G|||	1	0.000199681	0	0.0014	5008	,	,		17960	0		0	False		,,,				2504	0					ENST00000452319.1																			0				NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						c.(271-273)Ggc>Agc		GLI family zinc finger 2							98	111	107					2																	121708835		2203	4300	6503	SO:0001583	missense	2736				axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr2:121708835G>A		CCDS33283.1	2q14	2013-01-25	2009-03-05		ENSG00000074047	ENSG00000074047		"Zinc fingers, C2H2-type"	4318	protein-coding gene	gene with protein product	"tax-responsive element-2 holding protein", "tax helper protein 1", "tax helper protein 2"	165230	"GLI-Kruppel family member GLI2", "glioma-associated oncogene family zinc finger 2"			2850480, 9557682	Standard	NM_005270		Approved	THP2, HPE9, THP1	uc010flp.3	P10070	OTTHUMG00000153741	ENST00000452319.1:c.271G>A	2.37:g.121708835G>A	ENSP00000390436:p.Gly91Ser					GLI2_ENST00000435313.2_3'UTR|GLI2_ENST00000361492.4_Missense_Mutation_p.G91S|GLI2_ENST00000314490.11_5'UTR	p.G91S			P10070	GLI2_HUMAN			4	331	+	Renal(3;0.0496)	Prostate(154;0.0623)	91						Missense_Mutation	SNP	ENST00000452319.1	37	c.271G>A	CCDS33283.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.043608	0.75732	.	.	ENSG00000074047	ENST00000452319;ENST00000361492	T;T	0.41400	1.0;1.0	5.28	5.28	0.74379	.	0.000000	0.85682	D	0.000000	T	0.53753	0.1816	L	0.48642	1.525	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.70016	0.958;0.967;0.955	T	0.40496	-0.9560	10	0.05525	T	0.97	.	19.1082	0.93305	0.0:0.0:1.0:0.0	.	91;91;91	B4DT63;P10070;Q0VGA0	.;GLI2_HUMAN;.	S	91	ENSP00000390436:G91S;ENSP00000354586:G91S	ENSP00000354586:G91S	G	+	1	0	GLI2	121425305	1.000000	0.71417	1.000000	0.80357	0.877000	0.50540	6.611000	0.74183	2.751000	0.94390	0.555000	0.69702	GGC		0.632	GLI2-009	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332293.3	NM_005270		7	115	0	0	0	1	0	7	115					A	121708835	G	A	121708835	3	1	94	1	0	0	0	0	1	0	0	0	6438	1116	39	2	281	2	GLI2	2	121708835	Missense_Mutation	SNP	G	TCGA-EJ-7782-01A-11D-2114-08	932144	121708835	121490538	65	4884											
MCM6	4175	broad.mit.edu	37	chr2	136605708	136605708	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaggtgtttccacacggatGattgatttattcagtaaccg	10	14	9	8	2	2	2	2	2	0	0	3	3	3	3	2	2	1	2	2	2	2	6			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr2:136605708G>T	ENST00000264156.2	-	14	2028	c.1968C>A	c.(1966-1968)atC>atA	p.I656I	MCM6_ENST00000492091.1_5'UTR	NM_005915.5	NP_005906.2	Q14566	MCM6_HUMAN	minichromosome maintenance complex component 6	656					DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA unwinding involved in DNA replication (GO:0006268)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)	MCM complex (GO:0042555)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA helicase activity (GO:0003678)|identical protein binding (GO:0042802)|single-stranded DNA binding (GO:0003697)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(15)|prostate(2)|skin(1)	29				BRCA - Breast invasive adenocarcinoma(221;0.166)		CCACACGGATGATTGATTTAT	0.393																																					Ovarian(196;141 2104 8848 24991 25939)	ENST00000264156.2																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(15)|prostate(2)|skin(1)	29						c.(1966-1968)atC>atA		minichromosome maintenance complex component 6	Atorvastatin(DB01076)						166	137	147					2																	136605708		2203	4300	6503	SO:0001819	synonymous_variant	4175				cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	MCM complex	ATP binding|identical protein binding	g.chr2:136605708G>T		CCDS2179.1	2q14-q21	2008-02-05	2007-04-04		ENSG00000076003	ENSG00000076003			6949	protein-coding gene	gene with protein product	"MIS5 homolog (S.pombe)"	601806	"minichromosome maintenance deficient (mis5, S. pombe) 6", "MCM6 minichromosome maintenance deficient 6 (MIS5 homolog, S. pombe) (S. cerevisiae)", "minichromosome maintenance deficient 6 homolog (S. cerevisiae)"				Standard	NM_005915		Approved	Mis5	uc002tuw.4	Q14566	OTTHUMG00000131739	ENST00000264156.2:c.1968C>A	2.37:g.136605708G>T						MCM6_ENST00000492091.1_5'UTR	p.I656I	NM_005915.5	NP_005906.2	Q14566	MCM6_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.166)	14	2028	-			656					B2R6H2|Q13504|Q99859	Silent	SNP	ENST00000264156.2	37	c.1968C>A	CCDS2179.1																																																																																				0.393	MCM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254658.1	NM_005915		5	25	1	0	0.000602214	1	0.000614187	5	25					T	136605708	G	T	136605708	2	4	94	1	0	0	0	0	0	0	0	1	9391	1280	45	5		5	MCM6	2	136605708	Silent	SNP	G	TCGA-EJ-7782-01A-11D-2114-08	14896873	136605708	106593665	66	4885											
ACVR2A	92	broad.mit.edu	37	chr2	148602758	148602758	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agttggcgtttgccgtctttCttatctcctgttcttcaggt	3	19	9	10	2	5	0	1	0	4	0	6	0	5	0	2	2	1	3	2	2	1	6			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr2:148602758C>G	ENST00000241416.7	+	1	673	c.37C>G	c.(37-39)Ctt>Gtt	p.L13V	ACVR2A_ENST00000404590.1_Missense_Mutation_p.L13V|ACVR2A_ENST00000535787.1_Intron	NM_001278579.1|NM_001278580.1|NM_001616.3	NP_001265508.1|NP_001265509.1|NP_001607.1	P27037	AVR2A_HUMAN	activin A receptor, type IIA	13				L -> V (in Ref. 4; BAA06548). {ECO:0000305}.	activin receptor signaling pathway (GO:0032924)|anterior/posterior pattern specification (GO:0009952)|BMP signaling pathway (GO:0030509)|cellular response to BMP stimulus (GO:0071773)|determination of left/right symmetry (GO:0007368)|embryonic skeletal system development (GO:0048706)|gastrulation with mouth forming second (GO:0001702)|mesoderm development (GO:0007498)|penile erection (GO:0043084)|positive regulation of activin receptor signaling pathway (GO:0032927)|positive regulation of bone mineralization (GO:0030501)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of protein phosphorylation (GO:0001934)|regulation of BMP signaling pathway (GO:0030510)|regulation of nitric-oxide synthase activity (GO:0050999)|Sertoli cell proliferation (GO:0060011)|sperm ejaculation (GO:0042713)|spermatogenesis (GO:0007283)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|inhibin-betaglycan-ActRII complex (GO:0034673)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|coreceptor activity (GO:0015026)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|transforming growth factor beta-activated receptor activity (GO:0005024)|transmembrane receptor protein serine/threonine kinase activity (GO:0004675)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(5)|large_intestine(14)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(8)	45				BRCA - Breast invasive adenocarcinoma(221;0.0969)		TGCCGTCTTTCTTATCTCCTG	0.647																																						ENST00000241416.7																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(5)|large_intestine(14)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(8)	45						c.(37-39)Ctt>Gtt		activin A receptor, type IIA							64	65	64					2																	148602758		2203	4300	6503	SO:0001583	missense	92				activin receptor signaling pathway|BMP signaling pathway|positive regulation of activin receptor signaling pathway|positive regulation of bone mineralization|positive regulation of erythrocyte differentiation|positive regulation of osteoblast differentiation|positive regulation of protein phosphorylation	cytoplasm|inhibin-betaglycan-ActRII complex|integral to plasma membrane	ATP binding|coreceptor activity|inhibin beta-A binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|transforming growth factor beta receptor activity	g.chr2:148602758C>G		CCDS33301.1, CCDS63030.1	2q22.2-q23.3	2008-02-05	2005-05-10	2005-05-10	ENSG00000121989	ENSG00000121989			173	protein-coding gene	gene with protein product		102581	"activin A receptor, type II"	ACVR2		1314589, 10702675	Standard	NM_001278579		Approved	ACTRII	uc002twh.3	P27037	OTTHUMG00000150603	ENST00000241416.7:c.37C>G	2.37:g.148602758C>G	ENSP00000241416:p.Leu13Val					ACVR2A_ENST00000535787.1_Intron|ACVR2A_ENST00000404590.1_Missense_Mutation_p.L13V	p.L13V	NM_001278579.1|NM_001278580.1|NM_001616.3	NP_001265508.1|NP_001265509.1|NP_001607.1	P27037	AVR2A_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0969)	1	673	+			13	L -> V (in Ref. 4; BAA06548).				B2RAB8|B4DWQ2|D3DP85|Q53TH4|Q6NWV2|Q92474	Missense_Mutation	SNP	ENST00000241416.7	37	c.37C>G	CCDS33301.1	.	.	.	.	.	.	.	.	.	.	C	12.64	1.998310	0.35226	.	.	ENSG00000121989	ENST00000241416;ENST00000404590	D;D	0.83755	-1.76;-1.76	4.42	4.42	0.53409	.	1.121610	0.06903	N	0.806328	D	0.82467	0.5043	L	0.53249	1.67	0.80722	D	1	B	0.09022	0.002	B	0.06405	0.002	T	0.66524	-0.5902	10	0.36615	T	0.2	.	16.8377	0.85961	0.0:1.0:0.0:0.0	.	13	P27037	AVR2A_HUMAN	V	13	ENSP00000241416:L13V;ENSP00000384338:L13V	ENSP00000241416:L13V	L	+	1	0	ACVR2A	148319228	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.046000	0.57376	2.271000	0.75665	0.585000	0.79938	CTT		0.647	ACVR2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319051.1	NM_001616		14	23	0	0	0	1	0	14	23					G	148602758	C	G	148602758	3	3	94	1	0	0	0	0	1	0	0	0	223	913	32	5	39	5	ACVR2A	2	148602758	Missense_Mutation	SNP	C	TCGA-EJ-7782-01A-11D-2114-08	11997050	148602758	94596615	67	4886											
SLC38A11	151258	broad.mit.edu	37	chr2	165809221	165809221	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttatatagtattttacctgtAacatatgaaacccagaataa	17	14	4	6	0	0	2	0	1	0	1	0	2	0	2	2	0	3	2	2	0	10	9			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr2:165809221A>G	ENST00000409149.3	-	2	348	c.57T>C	c.(55-57)gtT>gtC	p.V19V	SLC38A11_ENST00000409058.1_Intron|SLC38A11_ENST00000303735.4_Silent_p.V19V|SLC38A11_ENST00000409662.1_Silent_p.V19V	NM_001199148.1	NP_001186077.1	Q08AI6	S38AB_HUMAN	solute carrier family 38, member 11	19					amino acid transport (GO:0006865)|sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)				endometrium(2)|large_intestine(4)|lung(8)|ovary(1)	15						TTTTACCTGTAACATATGAAA	0.363																																						ENST00000303735.4																			0				endometrium(2)|large_intestine(4)|lung(8)|ovary(1)	15						c.(55-57)gtT>gtC		solute carrier family 38, member 11							52	56	55					2																	165809221		2203	4299	6502	SO:0001819	synonymous_variant	151258				amino acid transport|sodium ion transport	integral to membrane		g.chr2:165809221A>G		CCDS2224.1, CCDS56142.1	2q24.3	2013-05-22			ENSG00000169507	ENSG00000169507		"Solute carriers"	26836	protein-coding gene	gene with protein product							Standard	NM_173512		Approved	FLJ39822, AVT2	uc002ucw.2	Q08AI6	OTTHUMG00000132144	ENST00000409149.3:c.57T>C	2.37:g.165809221A>G						SLC38A11_ENST00000409662.1_Silent_p.V19V|SLC38A11_ENST00000409149.3_Silent_p.V19V|SLC38A11_ENST00000409058.1_Intron	p.V19V	NM_173512.2	NP_775783.1	Q08AI6	S38AB_HUMAN			2	387	-			19					B4DF99|Q8N887	Silent	SNP	ENST00000409149.3	37	c.57T>C	CCDS56142.1																																																																																				0.363	SLC38A11-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333390.1	NM_173512		5	29	0	0	0	1	0	5	29					G	165809221	A	G	165809221	2	3	94	1	0	0	0	0	0	0	0	1	14603	349	13	4		4	SLC38A11	2	165809221	Silent	SNP	A	TCGA-EJ-7782-01A-11D-2114-08	17206463	165809221	77390152	68	4887											
GALNT3	2591	broad.mit.edu	37	chr2	166621492	166621492	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttctaagcaacgtggaccacGcttcattatgaaaaactatt	14	12	6	9	2	2	1	1	1	1	0	2	2	2	2	1	1	3	2	1	1	6	6	rs201078015		TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr2:166621492G>A	ENST00000392701.3	-	3	1365	c.590C>T	c.(589-591)gCg>gTg	p.A197V		NM_004482.3	NP_004473.2	Q14435	GALT3_HUMAN	polypeptide N-acetylgalactosaminyltransferase 3	197	Catalytic subdomain A.				carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein O-linked glycosylation via serine (GO:0018242)|protein O-linked glycosylation via threonine (GO:0018243)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|manganese ion binding (GO:0030145)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			NS(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|skin(1)	20						CGTGGACCACGCTTCATTATG	0.423																																						ENST00000392701.3																			0				NS(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|skin(1)	20						c.(589-591)gCg>gTg		UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 3 (GalNAc-T3)							126	117	120					2																	166621492		2203	4300	6503	SO:0001583	missense	2591				protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine	Golgi cisterna membrane|integral to membrane|membrane fraction|nucleus|perinuclear region of cytoplasm	calcium ion binding|manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr2:166621492G>A		CCDS2226.1	2q24-q31	2014-03-13	2014-03-13		ENSG00000115339	ENSG00000115339	2.4.1.41	"Glycosyltransferase family 2 domain containing"	4125	protein-coding gene	gene with protein product	"polypeptide GalNAc transferase 3"	601756	"UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 3 (GalNAc-T3)"			9592121, 15133511	Standard	NM_004482		Approved	GalNAc-T3, HHS, HFTC	uc010fph.1	Q14435	OTTHUMG00000132157	ENST00000392701.3:c.590C>T	2.37:g.166621492G>A	ENSP00000376465:p.Ala197Val						p.A197V	NM_004482.3	NP_004473.2	Q14435	GALT3_HUMAN			3	1365	-			197			Catalytic subdomain A.		Q53TG9|Q7Z476	Missense_Mutation	SNP	ENST00000392701.3	37	c.590C>T	CCDS2226.1	.	.	.	.	.	.	.	.	.	.	G	17.42	3.385837	0.61956	.	.	ENSG00000115339	ENST00000392701;ENST00000412248	T;T	0.62105	0.05;0.05	5.8	5.8	0.92144	Glycosyl transferase, family 2 (1);	0.052929	0.85682	D	0.000000	D	0.82737	0.5102	M	0.87381	2.88	0.80722	D	1	D	0.89917	1.0	D	0.71656	0.974	D	0.84915	0.0850	10	0.87932	D	0	.	20.0463	0.97608	0.0:0.0:1.0:0.0	.	197	Q14435	GALT3_HUMAN	V	197	ENSP00000376465:A197V;ENSP00000412643:A197V	ENSP00000376465:A197V	A	-	2	0	GALNT3	166329738	1.000000	0.71417	0.967000	0.41034	0.027000	0.11550	7.957000	0.87870	2.729000	0.93468	0.561000	0.74099	GCG		0.423	GALNT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255205.2	NM_004482		17	26	0	0	0	1	0	17	26					A	166621492	G	A	166621492	3	1	94	1	0	0	0	0	1	0	0	0	6214	1087	38	1	1347	1	GALNT3	2	166621492	Missense_Mutation	SNP	G	TCGA-EJ-7782-01A-11D-2114-08	812271	166621492	76577881	69	4888											
TTN	7273	broad.mit.edu	37	chr2	179440959	179440959	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgaagatcaggaacaacgaaCtgagtgattctgagggcggt	13	8	14	6	2	2	5	1	4	1	1	2	7	2	6	0	3	3	0	0	3	4	1			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr2:179440959C>T	ENST00000591111.1	-	276	65201	c.64977G>A	c.(64975-64977)caG>caA	p.Q21659Q	TTN-AS1_ENST00000586831.1_RNA|RP11-171I2.5_ENST00000604215.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Silent_p.Q14360Q|TTN_ENST00000460472.2_Silent_p.Q14235Q|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Silent_p.Q14427Q|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000589042.1_Silent_p.Q23300Q|TTN_ENST00000342992.6_Silent_p.Q20732Q|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000456053.1_RNA|RP11-171I2.2_ENST00000603521.1_RNA			Q8WZ42	TITIN_HUMAN	titin	21659	Fibronectin type-III 57. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GAACAACGAACTGAGTGATTC	0.468																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(69898-69900)caG>caA		titin							73	72	72					2																	179440959		1903	4129	6032	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179440959C>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.64977G>A	2.37:g.179440959C>T						TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000359218.5_Silent_p.Q14360Q|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342992.6_Silent_p.Q20732Q|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000460472.2_Silent_p.Q14235Q|TTN_ENST00000591111.1_Silent_p.Q21659Q|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000342175.6_Silent_p.Q14427Q|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590932.1_RNA	p.Q23300Q	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		326	70124	-			21659			Fibronectin type-III 69.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	ENST00000591111.1	37	c.69900G>A																																																																																					0.468	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		5	32	0	0	0	1	0	5	32					T	179440959	C	T	179440959	2	4	94	1	0	0	0	0	0	0	0	1	16732	564	20	3		3	TTN	2	179440959	Silent	SNP	C	TCGA-EJ-7782-01A-11D-2114-08	12819467	179440959	63758414	70	4889											
DNAH7	56171	broad.mit.edu	37	chr2	196729067	196729067	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccgctggcgatctaactgacGcatcttatcacatatctctt	9	13	6	13	3	4	1	1	1	3	0	5	2	4	1	1	1	1	2	1	1	3	4	rs537891498		TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr2:196729067G>A	ENST00000312428.6	-	41	7412	c.7312C>T	c.(7312-7314)Cgt>Tgt	p.R2438C		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	2438	AAA 4. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)	axonemal dynein complex (GO:0005858)|cilium (GO:0005929)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|microtubule motor activity (GO:0003777)	p.R2438C(1)		NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						TCTAACTGACGCATCTTATCA	0.433													G|||	1	0.000199681	0	0	5008	,	,		19822	0.001		0	False		,,,				2504	0					ENST00000312428.6																			1	Substitution - Missense(1)	p.R2438C(1)	endometrium(1)	NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						c.(7312-7314)Cgt>Tgt		dynein, axonemal, heavy chain 7							151	146	148					2																	196729067		1960	4161	6121	SO:0001583	missense	56171				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr2:196729067G>A	AF327442	CCDS42794.1	2q33.1	2013-01-10	2006-09-04		ENSG00000118997	ENSG00000118997		"Axonemal dyneins", "EF-hand domain containing"	18661	protein-coding gene	gene with protein product		610061	"dynein, axonemal, heavy polypeptide 7"			9373155, 11877439	Standard	NM_018897		Approved	KIAA0944	uc002utj.4	Q8WXX0	OTTHUMG00000154438	ENST00000312428.6:c.7312C>T	2.37:g.196729067G>A	ENSP00000311273:p.Arg2438Cys						p.R2438C	NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN			41	7412	-			2438			AAA 4 (By similarity).		B8ZZX8|O00433|O95492|Q4G152|Q53QX7|Q53S64|Q53T02|Q68CY5|Q8N1Z2|Q9UMS3|Q9Y2F3	Missense_Mutation	SNP	ENST00000312428.6	37	c.7312C>T	CCDS42794.1	.	.	.	.	.	.	.	.	.	.	G	24.5	4.534714	0.85812	.	.	ENSG00000118997	ENST00000312428	T	0.57595	0.39	5.34	5.34	0.76211	Dynein heavy chain, P-loop containing D4 domain (1);	0.056667	0.64402	D	0.000001	T	0.81503	0.4836	H	0.95645	3.7	0.80722	D	1	D	0.89917	1.0	D	0.76575	0.988	D	0.86502	0.1804	10	0.72032	D	0.01	.	18.8307	0.92137	0.0:0.0:1.0:0.0	.	2438	Q8WXX0	DYH7_HUMAN	C	2438	ENSP00000311273:R2438C	ENSP00000311273:R2438C	R	-	1	0	DNAH7	196437312	1.000000	0.71417	0.999000	0.59377	0.872000	0.50106	9.336000	0.96533	2.785000	0.95823	0.650000	0.86243	CGT		0.433	DNAH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335202.3	NM_018897		5	75	0	0	0	1	0	5	75					A	196729067	G	A	196729067	3	1	94	1	0	0	0	0	1	0	0	0	4606	1087	38	1	4862	1	DNAH7	2	196729067	Missense_Mutation	SNP	G	TCGA-EJ-7782-01A-11D-2114-08	17288108	196729067	46470306	71	4890											
PARD3B	117583	broad.mit.edu	37	chr2	206480515	206480515	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccaggattcccggcagaagaAccccatgactgcagccgtat	11	6	10	14	2	0	3	0	1	0	2	1	4	1	4	5	2	3	3	5	2	3	2			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr2:206480515A>G	ENST00000406610.2	+	23	3803	c.3596A>G	c.(3595-3597)aAc>aGc	p.N1199S	PARD3B_ENST00000349953.3_Missense_Mutation_p.N1098S|PARD3B_ENST00000351153.1_Missense_Mutation_p.N1130S|PARD3B_ENST00000488622.1_3'UTR|PARD3B_ENST00000358768.2_Missense_Mutation_p.N1137S	NM_057177.6|NM_152526.5|NM_205863.3	NP_476518.4|NP_689739.4|NP_995585.2	Q8TEW8	PAR3L_HUMAN	par-3 family cell polarity regulator beta	1199					cell cycle (GO:0007049)|cell division (GO:0051301)	membrane (GO:0016020)|tight junction (GO:0005923)				breast(1)|endometrium(9)|kidney(2)|large_intestine(6)|liver(4)|lung(33)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	65		all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06)		Epithelial(149;0.0739)		CGGCAGAAGAACCCCATGACT	0.582																																						ENST00000406610.2																			0				breast(1)|endometrium(9)|kidney(2)|large_intestine(6)|liver(4)|lung(33)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	65						c.(3595-3597)aAc>aGc		par-3 family cell polarity regulator beta							50	56	54					2																	206480515		1951	4133	6084	SO:0001583	missense	117583				cell cycle|cell division	endomembrane system|tight junction		g.chr2:206480515A>G	AB053321	CCDS42804.1, CCDS42805.1, CCDS42806.1	2q33.3	2013-08-28	2013-08-28	2006-09-28	ENSG00000116117	ENSG00000116117			14446	protein-coding gene	gene with protein product			"amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 19", "par-3 partitioning defective 3 homolog B (C. elegans)"	ALS2CR19		11586298, 12459187	Standard	NM_057177		Approved	Par3L, PAR3beta	uc002vap.2	Q8TEW8	OTTHUMG00000154562	ENST00000406610.2:c.3596A>G	2.37:g.206480515A>G	ENSP00000385848:p.Asn1199Ser					PARD3B_ENST00000349953.3_Missense_Mutation_p.N1098S|PARD3B_ENST00000488622.1_3'UTR|PARD3B_ENST00000351153.1_Missense_Mutation_p.N1130S|PARD3B_ENST00000358768.2_Missense_Mutation_p.N1137S	p.N1199S	NM_057177.6|NM_152526.5|NM_205863.3	NP_476518.4|NP_689739.4|NP_995585.2	Q8TEW8	PAR3L_HUMAN		Epithelial(149;0.0739)	23	3803	+		all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06)	1199					E9PE87|Q8IUC7|Q8IUC9|Q96DK9|Q96N09|Q96NX6|Q96NX7|Q96Q29	Missense_Mutation	SNP	ENST00000406610.2	37	c.3596A>G		.	.	.	.	.	.	.	.	.	.	A	14.83	2.651958	0.47362	.	.	ENSG00000116117	ENST00000406610;ENST00000358768;ENST00000351153;ENST00000349953	T;T;T;T	0.15603	2.65;2.41;2.6;2.57	5.87	4.71	0.59529	.	0.188915	0.37857	N	0.001904	T	0.14141	0.0342	L	0.44542	1.39	0.21499	N	0.999664	P;B;B;B	0.39535	0.677;0.016;0.138;0.005	B;B;B;B	0.32677	0.15;0.004;0.044;0.019	T	0.11743	-1.0575	10	0.72032	D	0.01	.	11.2025	0.48749	0.9257:0.0:0.0743:0.0	.	1199;1130;1137;1098	Q8TEW8;E9PE87;Q8TEW8-2;Q8TEW8-5	PAR3L_HUMAN;.;.;.	S	1199;1137;1130;1098	ENSP00000385848:N1199S;ENSP00000351618:N1137S;ENSP00000317261:N1130S;ENSP00000340280:N1098S	ENSP00000340280:N1098S	N	+	2	0	PARD3B	206188760	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.678000	0.54627	1.024000	0.39682	0.528000	0.53228	AAC		0.582	PARD3B-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000335992.1	NM_057177		10	41	0	0	0	1	0	10	41					G	206480515	A	G	206480515	3	3	94	1	0	0	0	0	1	0	0	0	11444	43	2	4	3686	4	PARD3B	2	206480515	Missense_Mutation	SNP	A	TCGA-EJ-7782-01A-11D-2114-08	9751448	206480515	36718858	72	4891											
INHA	3623	broad.mit.edu	37	chr2	220439863	220439863	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctcaactcccctgatgtcctGgccttggtctccctctgctc	3	13	7	18	0	3	1	1	1	2	0	7	1	5	1	5	2	2	1	5	2	1	1			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr2:220439863G>A	ENST00000243786.2	+	2	896	c.716G>A	c.(715-717)tGg>tAg	p.W239*		NM_002191.3	NP_002182.1	P05111	INHA_HUMAN	inhibin, alpha	239					cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|erythrocyte differentiation (GO:0030218)|hemoglobin biosynthetic process (GO:0042541)|male gonad development (GO:0008584)|negative regulation of B cell differentiation (GO:0045578)|negative regulation of cell cycle (GO:0045786)|negative regulation of follicle-stimulating hormone secretion (GO:0046882)|negative regulation of interferon-gamma biosynthetic process (GO:0045077)|negative regulation of macrophage differentiation (GO:0045650)|negative regulation of phosphorylation (GO:0042326)|nervous system development (GO:0007399)|ovarian follicle development (GO:0001541)|positive regulation of follicle-stimulating hormone secretion (GO:0046881)|regulation of cell cycle (GO:0051726)|regulation of cell proliferation (GO:0042127)|response to external stimulus (GO:0009605)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)	extracellular region (GO:0005576)|inhibin A complex (GO:0043512)|inhibin-betaglycan-ActRII complex (GO:0034673)|neuronal cell body (GO:0043025)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)	cytokine activity (GO:0005125)|growth factor activity (GO:0008083)|hormone activity (GO:0005179)|receptor binding (GO:0005102)			large_intestine(2)|lung(5)|ovary(1)|skin(1)|urinary_tract(1)	10		Renal(207;0.0183)		Epithelial(149;4.58e-07)|all cancers(144;4.31e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802)		CTGATGTCCTGGCCTTGGTCT	0.657																																						ENST00000243786.2																			0				large_intestine(2)|lung(5)|ovary(1)|skin(1)|urinary_tract(1)	10						c.(715-717)tGg>tAg		inhibin, alpha							51	55	54					2																	220439863		2203	4300	6503	SO:0001587	stop_gained	3623				cell cycle arrest|cell surface receptor linked signaling pathway|cell-cell signaling|erythrocyte differentiation|hemoglobin biosynthetic process|induction of apoptosis|negative regulation of B cell differentiation|negative regulation of follicle-stimulating hormone secretion|negative regulation of interferon-gamma biosynthetic process|negative regulation of macrophage differentiation|negative regulation of phosphorylation|nervous system development|ovarian follicle development|positive regulation of follicle-stimulating hormone secretion|regulation of cell proliferation|response to external stimulus|skeletal system development	inhibin A complex|inhibin-betaglycan-ActRII complex	cytokine activity|growth factor activity|hormone activity|signal transducer activity	g.chr2:220439863G>A		CCDS2444.1	2q35	2013-09-19			ENSG00000123999	ENSG00000123999			6065	protein-coding gene	gene with protein product		147380				3345731	Standard	NM_002191		Approved		uc002vmk.2	P05111	OTTHUMG00000059237	ENST00000243786.2:c.716G>A	2.37:g.220439863G>A	ENSP00000243786:p.Trp239*						p.W239*	NM_002191.3	NP_002182.1	P05111	INHA_HUMAN		Epithelial(149;4.58e-07)|all cancers(144;4.31e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802)	2	896	+		Renal(207;0.0183)	239					A8K8H5	Nonsense_Mutation	SNP	ENST00000243786.2	37	c.716G>A	CCDS2444.1	.	.	.	.	.	.	.	.	.	.	G	24.7	4.563888	0.86335	.	.	ENSG00000123999	ENST00000243786	.	.	.	5.48	2.7	0.31948	.	0.694155	0.13819	N	0.360564	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-10.3149	5.3078	0.15813	0.1563:0.0:0.5373:0.3064	.	.	.	.	X	239	.	.	W	+	2	0	INHA	220148107	1.000000	0.71417	1.000000	0.80357	0.767000	0.43475	3.243000	0.51392	0.674000	0.31244	-0.310000	0.09108	TGG		0.657	INHA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131425.1			18	45	0	0	0	1	0	18	45					A	220439863	G	A	220439863	4	1	94	1	0	0	0	0	0	1	0	0	7740	1357	47	3	722	3	INHA	2	220439863	Nonsense_Mutation	SNP	G	TCGA-EJ-7782-01A-11D-2114-08	13959348	220439863	22759510	73	4892											
SAG	6295	broad.mit.edu	37	chr2	234237188	234237188	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgagatgggtccccagcccCgagctgaggcggcctggcag	6	6	16	13	2	0	2	0	2	0	1	1	4	1	2	5	4	2	2	5	4	0	1	rs201153410		TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr2:234237188C>T	ENST00000409110.1	+	8	807	c.577C>T	c.(577-579)Cga>Tga	p.R193*	SAG_ENST00000449594.2_Nonsense_Mutation_p.R59*	NM_000541.4	NP_000532.2	P10523	ARRS_HUMAN	S-antigen; retina and pineal gland (arrestin)	193					cell surface receptor signaling pathway (GO:0007166)|negative regulation of catalytic activity (GO:0043086)|phototransduction, visible light (GO:0007603)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|visual perception (GO:0007601)	cytosol (GO:0005829)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)	protein phosphatase inhibitor activity (GO:0004864)			cervix(1)|kidney(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	9		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.018)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.054)		Epithelial(121;2.86e-17)|BRCA - Breast invasive adenocarcinoma(100;0.00037)|LUSC - Lung squamous cell carcinoma(224;0.00608)|Lung(119;0.00714)|GBM - Glioblastoma multiforme(43;0.207)		TCCCCAGCCCCGAGCTGAGGC	0.582																																						ENST00000409110.1																			0				cervix(1)|kidney(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	9	GRCh37	CM981785	SAG	M		c.(577-579)Cga>Tga		S-antigen; retina and pineal gland (arrestin)		C	stop/ARG	0,4000		0,0,2000	120	115	117		577	1.6	0.1	2		117	3,8339		0,3,4168	yes	stop-gained	SAG	NM_000541.4		0,3,6168	TT,TC,CC		0.036,0.0,0.0243		193/406	234237188	3,12339	2000	4171	6171	SO:0001587	stop_gained	6295				rhodopsin mediated phototransduction|rhodopsin mediated signaling pathway		protein phosphatase inhibitor activity	g.chr2:234237188C>T		CCDS46545.1	2q37.1	2013-02-14			ENSG00000130561	ENSG00000130561			10521	protein-coding gene	gene with protein product	"arrestin 1"	181031				2249983	Standard	NM_000541		Approved	ARRESTIN, RP47	uc002vuh.2	P10523	OTTHUMG00000153213	ENST00000409110.1:c.577C>T	2.37:g.234237188C>T	ENSP00000386444:p.Arg193*					SAG_ENST00000449594.2_Nonsense_Mutation_p.R59*	p.R193*	NM_000541.4	NP_000532.2	P10523	ARRS_HUMAN		Epithelial(121;2.86e-17)|BRCA - Breast invasive adenocarcinoma(100;0.00037)|LUSC - Lung squamous cell carcinoma(224;0.00608)|Lung(119;0.00714)|GBM - Glioblastoma multiforme(43;0.207)	8	807	+		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.018)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.054)	193					A0FDN6|Q53SV3|Q99858	Nonsense_Mutation	SNP	ENST00000409110.1	37	c.577C>T	CCDS46545.1	.	.	.	.	.	.	.	.	.	.	C	15.14	2.745375	0.49151	0.0	3.6E-4	ENSG00000130561	ENST00000252857;ENST00000409110;ENST00000449594	.	.	.	4.19	1.6	0.23607	.	1.939470	0.02219	N	0.063843	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.15066	T	0.55	2.9227	3.3721	0.07224	0.3069:0.4166:0.0:0.2765	.	.	.	.	X	193;193;59	.	ENSP00000252857:R193X	R	+	1	2	SAG	233901927	0.000000	0.05858	0.148000	0.22405	0.047000	0.14425	-0.132000	0.10467	0.187000	0.20147	0.655000	0.94253	CGA		0.582	SAG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330126.1	NM_000541		15	45	0	0	0	1	0	15	45					T	234237188	C	T	234237188	4	4	94	1	0	0	0	0	0	1	0	0	13808	644	23	2	603	2	SAG	2	234237188	Nonsense_Mutation	SNP	C	TCGA-EJ-7782-01A-11D-2114-08	13797325	234237188	8962185	74	4893											
DGKD	8527	broad.mit.edu	37	chr2	234371288	234371288	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tatttgcctggtttcttctaGgggctcaactgcagcttcgt	5	16	10	10	1	3	0	1	0	2	0	4	0	3	0	1	3	4	4	1	3	3	6			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr2:234371288G>T	ENST00000264057.2	+	26	3105		c.e26-1		DGKD_ENST00000409813.3_Splice_Site	NM_152879.2	NP_690618.2	Q16760	DGKD_HUMAN	diacylglycerol kinase, delta 130kDa						blood coagulation (GO:0007596)|cell growth (GO:0016049)|diacylglycerol metabolic process (GO:0046339)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|multicellular organismal development (GO:0007275)|platelet activation (GO:0030168)|protein homooligomerization (GO:0051260)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein transport (GO:0015031)|response to organic substance (GO:0010033)|second-messenger-mediated signaling (GO:0019932)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol binding (GO:0019992)|diacylglycerol kinase activity (GO:0004143)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(13)|lung(15)|ovary(1)|pancreas(1)|skin(1)	38		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0538)		Epithelial(121;1.31e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000416)|Lung(119;0.00285)|LUSC - Lung squamous cell carcinoma(224;0.00655)	Phosphatidylserine(DB00144)	GTTTCTTCTAGGGGCTCAACT	0.592																																						ENST00000264057.2																			0				central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(13)|lung(15)|ovary(1)|pancreas(1)|skin(1)	38						c.e26-1		diacylglycerol kinase, delta 130kDa	Phosphatidylserine(DB00144)						135	140	138					2																	234371288		2203	4300	6503	SO:0001630	splice_region_variant	8527				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell growth|diacylglycerol metabolic process|endocytosis|epidermal growth factor receptor signaling pathway|multicellular organismal development|platelet activation|protein homooligomerization|protein transport|response to organic substance|second-messenger-mediated signaling	cytoplasm|cytoplasmic membrane-bounded vesicle|plasma membrane	ATP binding|diacylglycerol binding|diacylglycerol kinase activity|metal ion binding|protein heterodimerization activity|protein homodimerization activity	g.chr2:234371288G>T	D63479	CCDS2504.1, CCDS46546.1	2q37	2013-01-10	2002-08-29		ENSG00000077044	ENSG00000077044		"Sterile alpha motif (SAM) domain containing", "Pleckstrin homology (PH) domain containing"	2851	protein-coding gene	gene with protein product	"diglyceride kinase"	601826	"diacylglycerol kinase, delta (130kD)"			8626538, 12810723	Standard	NM_003648		Approved	KIAA0145, DGKdelta	uc002vui.1	Q16760	OTTHUMG00000133290	ENST00000264057.2:c.3094-1G>T	2.37:g.234371288G>T						DGKD_ENST00000409813.3_Splice_Site		NM_152879.2	NP_690618.2	Q16760	DGKD_HUMAN		Epithelial(121;1.31e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000416)|Lung(119;0.00285)|LUSC - Lung squamous cell carcinoma(224;0.00655)	26	3105	+		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0538)						Q14158|Q6PK55|Q8NG53	Splice_Site	SNP	ENST00000264057.2	37		CCDS2504.1	.	.	.	.	.	.	.	.	.	.	G	10.65	1.410086	0.25465	.	.	ENSG00000077044	ENST00000264057;ENST00000409813	.	.	.	4.08	3.19	0.36642	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.3888	0.60811	0.0:0.0:0.8412:0.1588	.	.	.	.	.	-1	.	.	.	+	.	.	DGKD	234036027	1.000000	0.71417	0.970000	0.41538	0.185000	0.23345	9.421000	0.97455	1.042000	0.40150	-0.181000	0.13052	.		0.592	DGKD-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257072.2	NM_003648	Intron	8	113	1	0	1.26484e-09	1	1.33787e-09	8	113					T	234371288	G	T	234371288	5	4	94	1	0	0	0	0	0	0	1	0	4467	1014	35	5	3219	5	DGKD	2	234371288	Splice_Site	SNP	G	TCGA-EJ-7782-01A-11D-2114-08	134100	234371288	8828085	75	4894											
KLHL30	377007	broad.mit.edu	37	chr2	239049574	239049574	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cagcagcccctacttccatgCcatgtttgcgggtgacttcg	6	11	10	14	2	0	1	0	1	0	0	2	1	1	1	4	1	5	2	4	1	1	4			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr2:239049574C>T	ENST00000409223.1	+	2	286	c.179C>T	c.(178-180)gCc>gTc	p.A60V	KLHL30_ENST00000305959.4_Missense_Mutation_p.A42V			Q0D2K2	KLH30_HUMAN	kelch-like family member 30	60	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.									lung(4)	4		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;4.71e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.02e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.63e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000109)|Lung(119;0.0108)|LUSC - Lung squamous cell carcinoma(224;0.0253)		TACTTCCATGCCATGTTTGCG	0.677																																						ENST00000409223.1																			0				lung(4)	4						c.(178-180)gCc>gTc		kelch-like family member 30							75	86	82					2																	239049574		2127	4226	6353	SO:0001583	missense	377007							g.chr2:239049574C>T		CCDS46555.1, CCDS46555.2	2q37.3	2013-02-22	2013-02-22		ENSG00000168427	ENSG00000168427		"Kelch-like", "BTB/POZ domain containing"	24770	protein-coding gene	gene with protein product			"kelch-like 30 (Drosophila)"				Standard	NM_198582		Approved	FLJ43374	uc002vxr.2	Q0D2K2	OTTHUMG00000152905	ENST00000409223.1:c.179C>T	2.37:g.239049574C>T	ENSP00000386389:p.Ala60Val					KLHL30_ENST00000305959.4_Missense_Mutation_p.A42V	p.A60V			Q0D2K2	KLH30_HUMAN		Epithelial(121;4.71e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.02e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.63e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000109)|Lung(119;0.0108)|LUSC - Lung squamous cell carcinoma(224;0.0253)	2	286	+		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)	60			BTB.		Q6ZUS1	Missense_Mutation	SNP	ENST00000409223.1	37	c.179C>T	CCDS46555.2	.	.	.	.	.	.	.	.	.	.	C	23.9	4.476218	0.84640	.	.	ENSG00000168427	ENST00000409223;ENST00000305959	T;T	0.69306	-0.39;-0.39	5.75	5.75	0.90469	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.328254	0.32640	N	0.005826	D	0.83362	0.5238	M	0.83384	2.64	0.42989	D	0.994487	D	0.71674	0.998	D	0.69142	0.962	D	0.85470	0.1172	10	0.87932	D	0	.	18.7132	0.91666	0.0:1.0:0.0:0.0	.	60	Q0D2K2	KLH30_HUMAN	V	60;42	ENSP00000386389:A60V;ENSP00000302386:A42V	ENSP00000302386:A42V	A	+	2	0	KLHL30	238714313	1.000000	0.71417	1.000000	0.80357	0.860000	0.49131	3.918000	0.56432	2.720000	0.93068	0.655000	0.94253	GCC		0.677	KLHL30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328518.1	NM_198582		22	47	0	0	0	1	0	22	47					T	239049574	C	T	239049574	3	4	94	1	0	0	0	0	1	0	0	0	8384	739	26	3	181	3	KLHL30	2	239049574	Missense_Mutation	SNP	C	TCGA-EJ-7782-01A-11D-2114-08	4678286	239049574	4149799	76	4895											
ANKMY1	51281	broad.mit.edu	37	chr2	241468861	241468861	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctcggaaccacagccccacGtcctggctgccatcggggta	7	7	11	16	3	1	0	0	0	1	0	4	1	2	1	5	4	3	2	5	4	2	1	rs147984796		TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr2:241468861G>A	ENST00000272972.3	-	4	493	c.279C>T	c.(277-279)gaC>gaT	p.D93D	ANKMY1_ENST00000405002.1_Intron|ANKMY1_ENST00000373318.2_Intron|ANKMY1_ENST00000405523.3_Intron|ANKMY1_ENST00000403283.1_Intron|ANKMY1_ENST00000462004.1_Intron|ANKMY1_ENST00000391987.1_Silent_p.D93D|ANKMY1_ENST00000361678.4_Intron|ANKMY1_ENST00000401804.1_Silent_p.D182D|ANKMY1_ENST00000406958.1_Intron|ANKMY1_ENST00000373320.4_Intron|ANKMY1_ENST00000536462.1_Intron	NM_016552.2	NP_057636.2	Q9P2S6	ANKY1_HUMAN	ankyrin repeat and MYND domain containing 1	93							metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	30		all_epithelial(40;2.79e-15)|Breast(86;2.41e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0335)|Lung NSC(271;0.106)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;1.03e-30)|all cancers(36;4.78e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.45e-14)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.8e-06)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.01)|Colorectal(34;0.0101)|COAD - Colon adenocarcinoma(134;0.0476)		ACAGCCCCACGTCCTGGCTGC	0.592																																						ENST00000391987.1																			0				central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	30						c.(277-279)gaC>gaT		ankyrin repeat and MYND domain containing 1		G	,	0,4406		0,0,2203	42	48	46		279,	-7.9	0.7	2	dbSNP_134	46	3,8597	3.0+/-9.4	0,3,4297	no	coding-synonymous,intron	ANKMY1	NM_016552.2,NM_017844.2	,	0,3,6500	AA,AG,GG		0.0349,0.0,0.0231	,	93/942,	241468861	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	51281						zinc ion binding	g.chr2:241468861G>A	AB034636	CCDS2535.1, CCDS2536.1, CCDS63184.1, CCDS63185.1, CCDS74681.1	2q37.3	2013-01-10			ENSG00000144504	ENSG00000144504		"Zinc fingers, MYND-type", "Ankyrin repeat domain containing"	20987	protein-coding gene	gene with protein product							Standard	XM_005247020		Approved	FLJ20499, ZMYND13	uc002vyz.1	Q9P2S6	OTTHUMG00000133355	ENST00000272972.3:c.279C>T	2.37:g.241468861G>A						ANKMY1_ENST00000373318.2_Intron|ANKMY1_ENST00000401804.1_Silent_p.D182D|ANKMY1_ENST00000373320.4_Intron|ANKMY1_ENST00000462004.1_Intron|ANKMY1_ENST00000403283.1_Intron|ANKMY1_ENST00000536462.1_Intron|ANKMY1_ENST00000405002.1_Intron|ANKMY1_ENST00000272972.3_Silent_p.D93D|ANKMY1_ENST00000406958.1_Intron|ANKMY1_ENST00000361678.4_Intron|ANKMY1_ENST00000405523.3_Intron	p.D93D			Q9P2S6	ANKY1_HUMAN		Epithelial(32;1.03e-30)|all cancers(36;4.78e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.45e-14)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.8e-06)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.01)|Colorectal(34;0.0101)|COAD - Colon adenocarcinoma(134;0.0476)	5	645	-		all_epithelial(40;2.79e-15)|Breast(86;2.41e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0335)|Lung NSC(271;0.106)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)	93					B2RB78|Q4ZFV3|Q8IYX5|Q8NDK5|Q9H0V8|Q9NX10	Silent	SNP	ENST00000272972.3	37	c.279C>T	CCDS2536.1	.	.	.	.	.	.	.	.	.	.	G	9.510	1.105582	0.20632	0.0	3.49E-4	ENSG00000144504	ENST00000443318	.	.	.	4.91	-7.95	0.01148	.	.	.	.	.	T	0.52805	0.1757	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.60244	-0.7301	4	.	.	.	-8.4016	11.6889	0.51503	0.7558:0.0:0.1395:0.1047	.	.	.	.	C	38	.	.	R	-	1	0	ANKMY1	241117534	0.647000	0.27304	0.653000	0.29593	0.864000	0.49448	-0.285000	0.08410	-1.730000	0.01362	-0.794000	0.03295	CGT		0.592	ANKMY1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000257187.2	NM_017844		5	36	0	0	0	1	0	5	36					A	241468861	G	A	241468861	2	1	94	1	0	0	0	0	0	0	0	1	634	1136	40	1		1	ANKMY1	2	241468861	Silent	SNP	G	TCGA-EJ-7782-01A-11D-2114-08	2419287	241468861	1730512	77	4896											
NEU4	129807	broad.mit.edu	37	chr2	242755694	242755694	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agcagagcatgggggtccctCgtaccccttcacggacagtg	8	7	13	13	2	1	1	1	0	0	1	3	2	2	2	3	3	3	3	3	3	1	2	rs376890171		TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr2:242755694C>T	ENST00000391969.2	+	3	724	c.13C>T	c.(13-15)Cgt>Tgt	p.R5C	NEU4_ENST00000404257.1_Missense_Mutation_p.R17C|NEU4_ENST00000325935.6_Missense_Mutation_p.R18C|AC114730.3_ENST00000420272.2_RNA|NEU4_ENST00000405370.1_Missense_Mutation_p.R5C|NEU4_ENST00000407683.1_Missense_Mutation_p.R5C	NM_001167602.1	NP_001161074.1	Q8WWR8	NEUR4_HUMAN	sialidase 4	5					ganglioside catabolic process (GO:0006689)|glycoprotein catabolic process (GO:0006516)|glycosphingolipid metabolic process (GO:0006687)|oligosaccharide catabolic process (GO:0009313)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	lysosomal lumen (GO:0043202)|lysosome (GO:0005764)|mitochondrion (GO:0005739)|organelle inner membrane (GO:0019866)	exo-alpha-(2->3)-sialidase activity (GO:0052794)|exo-alpha-(2->6)-sialidase activity (GO:0052795)|exo-alpha-(2->8)-sialidase activity (GO:0052796)|exo-alpha-sialidase activity (GO:0004308)			breast(1)|lung(10)|prostate(2)|skin(2)	15		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;3.84e-33)|all cancers(36;8.08e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.41e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0825)		GGGGGTCCCTCGTACCCCTTC	0.701																																						ENST00000391969.2																			0				breast(1)|lung(10)|prostate(2)|skin(2)	15						c.(13-15)Cgt>Tgt		sialidase 4							34	35	35					2																	242755694		2203	4300	6503	SO:0001583	missense	129807					lysosomal lumen|organelle inner membrane	exo-alpha-sialidase activity|protein binding	g.chr2:242755694C>T	BC012899	CCDS2553.1, CCDS54441.1, CCDS54442.1	2q37.3	2008-02-05			ENSG00000204099	ENSG00000204099			21328	protein-coding gene	gene with protein product		608527					Standard	NM_001167600		Approved		uc010fzr.3	Q8WWR8	OTTHUMG00000133412	ENST00000391969.2:c.13C>T	2.37:g.242755694C>T	ENSP00000375830:p.Arg5Cys					NEU4_ENST00000407683.1_Missense_Mutation_p.R5C|NEU4_ENST00000405370.1_Missense_Mutation_p.R5C|NEU4_ENST00000404257.1_Missense_Mutation_p.R17C|NEU4_ENST00000325935.6_Missense_Mutation_p.R18C	p.R5C	NM_001167602.1	NP_001161074.1	Q8WWR8	NEUR4_HUMAN		Epithelial(32;3.84e-33)|all cancers(36;8.08e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.41e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0825)	3	724	+		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)	5					A8K056|J3KNJ5|Q96D64	Missense_Mutation	SNP	ENST00000391969.2	37	c.13C>T	CCDS54442.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.42|14.42	2.529259|2.529259	0.44969|0.44969	.|.	.|.	ENSG00000204099|ENSG00000204099	ENST00000407683;ENST00000415936;ENST00000405370;ENST00000423583;ENST00000404257;ENST00000391969;ENST00000325935;ENST00000435934;ENST00000435894;ENST00000426032;ENST00000420288;ENST00000428592|ENST00000472793	T;T;T;T;T;T;T;T;T;T;T|.	0.78924|.	-1.05;1.33;-1.05;-0.31;2.95;-1.05;2.95;1.49;1.34;-1.22;2.95|.	3.65|3.65	-0.172|-0.172	0.13327|0.13327	.|.	0.615494|.	0.16403|.	U|.	0.215950|.	T|T	0.26448|0.26448	0.0646|0.0646	N|N	0.22421|0.22421	0.69|0.69	0.09310|0.09310	N|N	1|1	D;D;D|.	0.71674|.	0.997;0.998;0.987|.	P;P;P|.	0.53649|.	0.543;0.731;0.505|.	T|T	0.32693|0.32693	-0.9897|-0.9897	10|6	0.38643|0.87932	T|D	0.18|0	-0.1264|-0.1264	6.8668|6.8668	0.24098|0.24098	0.3005:0.5979:0.0:0.1016|0.3005:0.5979:0.0:0.1016	.|.	17;17;5|.	A8K211;Q8WWR8-2;Q8WWR8|.	.;.;NEUR4_HUMAN|.	C|L	5;5;5;5;17;5;18;44;5;17;5;46|28	ENSP00000385402:R5C;ENSP00000397167:R5C;ENSP00000384804:R5C;ENSP00000397860:R5C;ENSP00000385149:R17C;ENSP00000375830:R5C;ENSP00000320318:R18C;ENSP00000398571:R5C;ENSP00000406678:R17C;ENSP00000388707:R5C;ENSP00000396197:R46C|.	ENSP00000320318:R18C|ENSP00000441629:S28L	R|S	+|+	1|2	0|0	NEU4|NEU4	242404367|242404367	0.001000|0.001000	0.12720|0.12720	0.000000|0.000000	0.03702|0.03702	0.012000|0.012000	0.07955|0.07955	1.165000|1.165000	0.31822|0.31822	0.465000|0.465000	0.27167|0.27167	0.443000|0.443000	0.29094|0.29094	CGT|TCG		0.701	NEU4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257270.2	NM_080741		4	33	0	0	0	1	0	4	33					T	242755694	C	T	242755694	3	4	94	1	0	0	0	0	1	0	0	0	10344	884	31	2	58	2	NEU4	2	242755694	Missense_Mutation	SNP	C	TCGA-EJ-7782-01A-11D-2114-08	1286833	242755694	443679	78	4897											
ITPR1	3708	broad.mit.edu	37	chr3	4847908	4847908	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttgttgtatctggtgatctGtgccatggggctctttgtcc	3	18	12	8	0	3	1	0	1	3	0	4	1	4	1	2	3	1	3	2	3	1	4			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr3:4847908G>A	ENST00000443694.2	+	52	7184	c.7184G>A	c.(7183-7185)tGt>tAt	p.C2395Y	ITPR1_ENST00000302640.8_Missense_Mutation_p.C2395Y|ITPR1_ENST00000423119.2_Missense_Mutation_p.C2362Y|ITPR1_ENST00000544951.1_Missense_Mutation_p.C373Y|ITPR1_ENST00000357086.4_Missense_Mutation_p.C2362Y|ITPR1_ENST00000354582.6_Missense_Mutation_p.C2395Y|ITPR1_ENST00000456211.2_Missense_Mutation_p.C2347Y|ITPR1_ENST00000463980.1_3'UTR			Q14643	ITPR1_HUMAN	inositol 1,4,5-trisphosphate receptor, type 1	2410					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|negative regulation of calcium-mediated signaling (GO:0050849)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|post-embryonic development (GO:0009791)|regulation of insulin secretion (GO:0050796)|release of sequestered calcium ion into cytosol (GO:0051209)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|voluntary musculoskeletal movement (GO:0050882)	calcineurin complex (GO:0005955)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear inner membrane (GO:0005637)|nucleolus (GO:0005730)|platelet dense granule membrane (GO:0031088)|platelet dense tubular network (GO:0031094)|platelet dense tubular network membrane (GO:0031095)|postsynaptic density (GO:0014069)|sarcoplasmic reticulum (GO:0016529)	calcium channel inhibitor activity (GO:0019855)|calcium ion transmembrane transporter activity (GO:0015085)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|intracellular ligand-gated calcium channel activity (GO:0005218)|phosphatidylinositol binding (GO:0035091)			NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)	Caffeine(DB00201)	CTGGTGATCTGTGCCATGGGG	0.463																																						ENST00000302640.8																			0				NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106						c.(7183-7185)tGt>tAt		inositol 1,4,5-trisphosphate receptor, type 1							167	156	159					3																	4847908		1950	4155	6105	SO:0001583	missense	3708				activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding	g.chr3:4847908G>A	D26070	CCDS46740.1, CCDS46740.2, CCDS54550.1, CCDS54551.1	3p26.1	2014-06-12	2011-04-28			ENSG00000150995		"Ion channels / Inositol triphosphate receptors"	6180	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 94"	147265	"spinocerebellar ataxia 15", "spinocerebellar ataxia 16", "spinocerebellar ataxia 29"	SCA15, SCA16, SCA29		7945203, 7500840, 17590087, 17932120, 22986007	Standard	NM_001099952		Approved	Insp3r1, IP3R1, ACV, PPP1R94	uc003bqc.3	Q14643		ENST00000443694.2:c.7184G>A	3.37:g.4847908G>A	ENSP00000401671:p.Cys2395Tyr					ITPR1_ENST00000463980.1_3'UTR|ITPR1_ENST00000357086.4_Missense_Mutation_p.C2362Y|ITPR1_ENST00000544951.1_Missense_Mutation_p.C373Y|ITPR1_ENST00000443694.2_Missense_Mutation_p.C2395Y|ITPR1_ENST00000456211.2_Missense_Mutation_p.C2347Y|ITPR1_ENST00000354582.6_Missense_Mutation_p.C2395Y|ITPR1_ENST00000423119.2_Missense_Mutation_p.C2362Y	p.C2395Y	NM_001168272.1	NP_001161744.1	Q14643	ITPR1_HUMAN		Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)	54	7534	+			2410					E7EPX7|E9PDE9|Q14660|Q99897	Missense_Mutation	SNP	ENST00000443694.2	37	c.7184G>A	CCDS54551.1	.	.	.	.	.	.	.	.	.	.	G	25.4	4.636955	0.87760	.	.	ENSG00000150995	ENST00000356617;ENST00000302640;ENST00000354582;ENST00000423119;ENST00000426160;ENST00000357086;ENST00000456211;ENST00000544951;ENST00000443694	D;D;D;D;D;D;D	0.98264	-2.9;-2.91;-2.91;-2.91;-2.91;-4.83;-2.9	5.07	5.07	0.68467	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99017	0.9664	M	0.85197	2.74	0.80722	D	1	D;D;D	0.89917	1.0;0.999;0.997	D;D;D	0.80764	0.994;0.99;0.968	D	0.99806	1.1038	10	0.87932	D	0	.	18.8154	0.92075	0.0:0.0:1.0:0.0	.	373;2410;2362	B7ZMI3;Q14643;G5E9P1	.;ITPR1_HUMAN;.	Y	2410;2395;2395;2362;856;2362;2347;373;2395	ENSP00000306253:C2395Y;ENSP00000346595:C2395Y;ENSP00000405934:C2362Y;ENSP00000349597:C2362Y;ENSP00000397885:C2347Y;ENSP00000440564:C373Y;ENSP00000401671:C2395Y	ENSP00000306253:C2395Y	C	+	2	0	ITPR1	4822908	1.000000	0.71417	0.998000	0.56505	0.971000	0.66376	9.710000	0.98732	2.517000	0.84864	0.591000	0.81541	TGT		0.463	ITPR1-004	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337982.3	NM_002222		12	37	0	0	0	1	0	12	37					A	4847908	G	A	4847908	3	1	94	1	0	0	0	0	1	0	0	0	7920	1377	48	3	7439	3	ITPR1	3	4847908	Missense_Mutation	SNP	G	TCGA-EJ-7782-01A-11D-2114-08		4847908	193174522	79	4898											
BRPF1	7862	broad.mit.edu	37	chr3	9776141	9776141	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaggtggacttgcatggccGcgtccaccgcatcagcatct	7	8	13	13	3	2	0	1	0	1	0	3	2	3	2	3	4	2	3	3	4	0	1			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr3:9776141G>A	ENST00000457855.1	+	1	328	c.317G>A	c.(316-318)cGc>cAc	p.R106H	BRPF1_ENST00000383829.2_Missense_Mutation_p.R106H|BRPF1_ENST00000424362.1_Missense_Mutation_p.R106H|BRPF1_ENST00000302054.3_Missense_Mutation_p.R106H|BRPF1_ENST00000433861.2_Missense_Mutation_p.R106H			P55201	BRPF1_HUMAN	bromodomain and PHD finger containing, 1	106	Interaction with KAT6A and KAT6B.				chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	49	Medulloblastoma(99;0.227)					TTGCATGGCCGCGTCCACCGC	0.597																																						ENST00000383829.2																			0				central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	49						c.(316-318)cGc>cAc		bromodomain and PHD finger containing, 1							102	107	105					3																	9776141		2203	4300	6503	SO:0001583	missense	7862				histone H3 acetylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|MOZ/MORF histone acetyltransferase complex|plasma membrane	DNA binding|zinc ion binding	g.chr3:9776141G>A	M91585	CCDS2575.1, CCDS33692.1	3p26-p25	2008-07-18			ENSG00000156983	ENSG00000156983			14255	protein-coding gene	gene with protein product	"peregrin", "bromodomain-containing protein, 140kD"	602410				8946209, 7906940	Standard	NM_001003694		Approved	BR140	uc003bsf.3	P55201	OTTHUMG00000097033	ENST00000457855.1:c.317G>A	3.37:g.9776141G>A	ENSP00000410210:p.Arg106His					BRPF1_ENST00000302054.3_Missense_Mutation_p.R106H|BRPF1_ENST00000424362.1_Missense_Mutation_p.R106H|BRPF1_ENST00000457855.1_Missense_Mutation_p.R106H|BRPF1_ENST00000433861.2_Missense_Mutation_p.R106H	p.R106H	NM_001003694.1	NP_001003694.1	P55201	BRPF1_HUMAN			2	721	+	Medulloblastoma(99;0.227)		106			Interaction with MYST3 and MYST4.		B4DEZ6|Q7Z6E0|Q8TCM6|Q9UHI0	Missense_Mutation	SNP	ENST00000457855.1	37	c.317G>A	CCDS2575.1	.	.	.	.	.	.	.	.	.	.	G	34	5.368416	0.95900	.	.	ENSG00000156983	ENST00000433861;ENST00000424362;ENST00000383829;ENST00000302054;ENST00000457855	T;T;T;T;T	0.54675	0.56;0.56;0.56;0.56;0.56	5.73	5.73	0.89815	Enhancer of polycomb-like, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.61739	0.2371	M	0.66939	2.045	0.80722	D	1	P;P;P;P	0.48016	0.904;0.713;0.713;0.869	P;B;B;P	0.47528	0.514;0.428;0.428;0.549	T	0.61724	-0.7004	10	0.44086	T	0.13	.	19.4877	0.95037	0.0:0.0:1.0:0.0	.	106;106;106;106	P55201-4;P55201-3;P55201-2;P55201	.;.;.;BRPF1_HUMAN	H	106	ENSP00000402485:R106H;ENSP00000398863:R106H;ENSP00000373340:R106H;ENSP00000306297:R106H;ENSP00000410210:R106H	ENSP00000306297:R106H	R	+	2	0	BRPF1	9751141	1.000000	0.71417	0.997000	0.53966	0.989000	0.77384	6.348000	0.73009	2.709000	0.92574	0.563000	0.77884	CGC		0.597	BRPF1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000338485.1	NM_001003694		28	42	0	0	0	1	0	28	42					A	9776141	G	A	9776141	3	1	94	1	0	0	0	0	1	0	0	0	1520	1087	38	1	319	1	BRPF1	3	9776141	Missense_Mutation	SNP	G	TCGA-EJ-7782-01A-11D-2114-08	4928233	9776141	188246289	80	4899											
TADA3	10474	broad.mit.edu	37	chr3	9825746	9825746	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttcttggtgcggttgtgggCactaagtgccttcagctcag	5	13	13	10	1	3	0	2	0	1	0	3	0	3	0	1	3	3	3	1	3	1	5	rs547844232		TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr3:9825746C>T	ENST00000301964.2	-	8	1630	c.1072G>A	c.(1072-1074)Gcc>Acc	p.A358T	TADA3_ENST00000343450.2_Missense_Mutation_p.A358T|TADA3_ENST00000440161.1_Missense_Mutation_p.A358T	NM_006354.2	NP_006345.1	O75528	TADA3_HUMAN	transcriptional adaptor 3	358					chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|intracellular estrogen receptor signaling pathway (GO:0030520)|mitotic nuclear division (GO:0007067)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of histone deacetylation (GO:0031063)|regulation of protein phosphorylation (GO:0001932)|regulation of protein stability (GO:0031647)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of tubulin deacetylation (GO:0090043)|transcription, DNA-templated (GO:0006351)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|intracellular (GO:0005622)|mitotic spindle (GO:0072686)|nucleus (GO:0005634)|STAGA complex (GO:0030914)|transcription factor TFTC complex (GO:0033276)	ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein domain specific binding (GO:0019904)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	16						CGGTTGTGGGCACTAAGTGCC	0.627																																						ENST00000343450.2																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	16						c.(1072-1074)Gcc>Acc		transcriptional adaptor 3							74	56	62					3																	9825746		2203	4300	6503	SO:0001583	missense	10474				estrogen receptor signaling pathway|histone H3 acetylation|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter	Ada2/Gcn5/Ada3 transcription activator complex|STAGA complex|transcription factor TFTC complex	ligand-dependent nuclear receptor binding|protein domain specific binding|sequence-specific DNA binding transcription factor activity	g.chr3:9825746C>T	AF069733	CCDS2583.1, CCDS2584.1	3p25.3	2010-08-13	2009-10-02	2009-10-02	ENSG00000171148	ENSG00000171148			19422	protein-coding gene	gene with protein product		602945	"transcriptional adaptor 3 (NGG1 homolog, yeast)-like"	TADA3L		9674425, 11707411	Standard	NM_006354		Approved	FLJ20221, FLJ21329, ADA3, hADA3, NGG1	uc010hcn.2	O75528	OTTHUMG00000128440	ENST00000301964.2:c.1072G>A	3.37:g.9825746C>T	ENSP00000307684:p.Ala358Thr					TADA3_ENST00000440161.1_Missense_Mutation_p.A358T|TADA3_ENST00000301964.2_Missense_Mutation_p.A358T	p.A358T	NM_133480.1	NP_597814.1	O75528	TADA3_HUMAN			8	1619	-			358					Q6FI83|Q9UFS2	Missense_Mutation	SNP	ENST00000301964.2	37	c.1072G>A	CCDS2583.1	.	.	.	.	.	.	.	.	.	.	C	15.64	2.894076	0.52121	.	.	ENSG00000171148	ENST00000301964;ENST00000440161;ENST00000343450	.	.	.	6.17	6.17	0.99709	.	0.104365	0.64402	D	0.000004	T	0.52725	0.1752	L	0.45581	1.43	0.53688	D	0.999976	B;B	0.06786	0.001;0.001	B;B	0.06405	0.002;0.002	T	0.44832	-0.9302	9	0.12103	T	0.63	-10.3611	13.2493	0.60041	0.0:0.9279:0.0:0.0721	.	358;358	O75528;A8K899	TADA3_HUMAN;.	T	358	.	ENSP00000307684:A358T	A	-	1	0	TADA3	9800746	0.996000	0.38824	0.992000	0.48379	0.796000	0.44982	2.550000	0.45811	2.941000	0.99782	0.655000	0.94253	GCC		0.627	TADA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250236.1			5	20	0	0	0	1	0	5	20					T	9825746	C	T	9825746	3	4	94	1	0	0	0	0	1	0	0	0	15509	710	25	3	238	3	TADA3	3	9825746	Missense_Mutation	SNP	C	TCGA-EJ-7782-01A-11D-2114-08	49605	9825746	188196684	81	4900											
IRAK2	3656	broad.mit.edu	37	chr3	10219597	10219597	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtgcagggtgtgagcatcaCgcgggagctgctgtggtggt	5	9	20	7	2	1	1	1	1	0	0	1	2	1	2	0	5	4	4	0	5	0	0			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr3:10219597C>T	ENST00000256458.4	+	2	260	c.170C>T	c.(169-171)aCg>aTg	p.T57M		NM_001570.3	NP_001561.3	O43187	IRAK2_HUMAN	interleukin-1 receptor-associated kinase 2	57	Death.				activation of MAPK activity (GO:0000187)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-1-mediated signaling pathway (GO:0070498)|JNK cascade (GO:0007254)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein phosphorylation (GO:0006468)|regulation of cytokine-mediated signaling pathway (GO:0001959)|response to interleukin-1 (GO:0070555)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|endosome membrane (GO:0010008)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)			breast(4)|large_intestine(8)|lung(11)|prostate(1)|stomach(1)	25						GTGAGCATCACGCGGGAGCTG	0.637																																						ENST00000256458.4																			0				breast(4)|large_intestine(8)|lung(11)|prostate(1)|stomach(1)	25						c.(169-171)aCg>aTg		interleukin-1 receptor-associated kinase 2							70	64	66					3																	10219597		2203	4300	6503	SO:0001583	missense	3656				activation of MAPK activity|I-kappaB kinase/NF-kappaB cascade|inflammatory response|innate immune response|interleukin-1-mediated signaling pathway|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of NF-kappaB transcription factor activity|positive regulation of NF-kappaB transcription factor activity|regulation of cytokine-mediated signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cell surface|cytosol|endosome membrane|plasma membrane	ATP binding|NF-kappaB-inducing kinase activity|protein heterodimerization activity|protein homodimerization activity	g.chr3:10219597C>T	AF026273	CCDS33697.1	3p25.2	2008-08-18			ENSG00000134070	ENSG00000134070			6113	protein-coding gene	gene with protein product		603304				9374458	Standard	XR_245126		Approved		uc003bve.1	O43187	OTTHUMG00000155358	ENST00000256458.4:c.170C>T	3.37:g.10219597C>T	ENSP00000256458:p.Thr57Met						p.T57M	NM_001570.3	NP_001561.3	O43187	IRAK2_HUMAN			2	260	+			57			Death.		B4DQZ6|Q08AG6|Q5K546	Missense_Mutation	SNP	ENST00000256458.4	37	c.170C>T	CCDS33697.1	.	.	.	.	.	.	.	.	.	.	C	17.97	3.518835	0.64634	.	.	ENSG00000134070	ENST00000256458	T	0.70399	-0.48	4.82	4.82	0.62117	Death (1);DEATH-like (2);	0.000000	0.49916	D	0.000129	D	0.82802	0.5116	M	0.74881	2.28	0.50313	D	0.999869	D	0.89917	1.0	D	0.97110	1.0	D	0.85038	0.0921	10	0.87932	D	0	-23.6131	13.4018	0.60887	0.0:1.0:0.0:0.0	.	57	O43187	IRAK2_HUMAN	M	57	ENSP00000256458:T57M	ENSP00000256458:T57M	T	+	2	0	IRAK2	10194597	0.998000	0.40836	0.927000	0.36925	0.718000	0.41266	4.810000	0.62598	2.226000	0.72624	0.491000	0.48974	ACG		0.637	IRAK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339623.1			16	33	0	0	0	1	0	16	33					T	10219597	C	T	10219597	3	4	94	1	0	0	0	0	1	0	0	0	7823	536	19	1	176	1	IRAK2	3	10219597	Missense_Mutation	SNP	C	TCGA-EJ-7782-01A-11D-2114-08	393851	10219597	187802833	82	4901											
ATP2B2	491	broad.mit.edu	37	chr3	10392202	10392202	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgagccgtgttgatattgtcGccagtgaccatgcggaccgt	7	10	13	11	5	0	2	0	2	0	0	1	4	0	3	4	1	2	1	4	1	1	3			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr3:10392202G>A	ENST00000352432.4	-	14	2265	c.2196C>T	c.(2194-2196)ggC>ggT	p.G732G	ATP2B2_ENST00000397077.1_Silent_p.G687G|ATP2B2_ENST00000383800.4_Silent_p.G687G|ATP2B2_ENST00000343816.4_Silent_p.G718G|ATP2B2_ENST00000360273.2_Silent_p.G732G			Q01814	AT2B2_HUMAN	ATPase, Ca++ transporting, plasma membrane 2	732					auditory receptor cell stereocilium organization (GO:0060088)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cerebellar granule cell differentiation (GO:0021707)|cerebellar Purkinje cell differentiation (GO:0021702)|cGMP metabolic process (GO:0046068)|cochlea development (GO:0090102)|cytosolic calcium ion homeostasis (GO:0051480)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|ion transmembrane transport (GO:0034220)|lactation (GO:0007595)|locomotion (GO:0040011)|locomotory behavior (GO:0007626)|neuromuscular process controlling balance (GO:0050885)|neuron differentiation (GO:0030182)|organelle organization (GO:0006996)|otolith mineralization (GO:0045299)|positive regulation of calcium ion transport (GO:0051928)|regulation of cell size (GO:0008361)|regulation of synaptic plasticity (GO:0048167)|sensory perception of sound (GO:0007605)|serotonin metabolic process (GO:0042428)|synapse organization (GO:0050808)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cilium (GO:0005929)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calcium-dependent ATPase activity (GO:0030899)|calcium-transporting ATPase activity (GO:0005388)|calmodulin binding (GO:0005516)|metal ion binding (GO:0046872)|PDZ domain binding (GO:0030165)|protein C-terminus binding (GO:0008022)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						TGATATTGTCGCCAGTGACCA	0.632																																					Ovarian(125;1619 1709 15675 19819 38835)	ENST00000397077.1																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						c.(2059-2061)ggC>ggT		ATPase, Ca++ transporting, plasma membrane 2							107	94	98					3																	10392202		2203	4300	6503	SO:0001819	synonymous_variant	491				ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation	cytosol|integral to membrane|plasma membrane	ATP binding|calcium ion binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding	g.chr3:10392202G>A	X63575	CCDS2601.1, CCDS33701.1	3p25.3	2010-04-20	2001-12-04		ENSG00000157087	ENSG00000157087	3.6.3.8	"ATPases / P-type"	815	protein-coding gene	gene with protein product	"plasma membrane Ca2+ pump 2", "plasma membrane calcium-transporting ATPase 2"	108733				1313367	Standard	NM_001001331		Approved	PMCA2	uc003bvt.3	Q01814	OTTHUMG00000128679	ENST00000352432.4:c.2196C>T	3.37:g.10392202G>A						ATP2B2_ENST00000383800.4_Silent_p.G687G|ATP2B2_ENST00000360273.2_Silent_p.G732G|ATP2B2_ENST00000343816.4_Silent_p.G718G|ATP2B2_ENST00000352432.4_Silent_p.G732G	p.G687G			Q01814	AT2B2_HUMAN			14	2636	-			732					O00766|Q12994|Q16818	Silent	SNP	ENST00000352432.4	37	c.2061C>T	CCDS33701.1																																																																																				0.632	ATP2B2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000250576.2	NM_001683		12	27	0	0	0	1	0	12	27					A	10392202	G	A	10392202	2	1	94	1	0	0	0	0	0	0	0	1	1140	1074	38	1		1	ATP2B2	3	10392202	Silent	SNP	G	TCGA-EJ-7782-01A-11D-2114-08	172605	10392202	187630228	83	4902											
ATP2B2	491	broad.mit.edu	37	chr3	10429962	10429962	+	Splice_Site	DEL	T	T	-																															gcaaggggattaggcttaccTtttttgtctttcttctcttc																										TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr3:10429962delT	ENST00000352432.4	-	5	975	c.906delA	c.(904-906)aaa>aa	p.K302fs	ATP2B2_ENST00000397077.1_Splice_Site_p.K302fs|ATP2B2_ENST00000383800.4_Splice_Site_p.K302fs|ATP2B2_ENST00000343816.4_Splice_Site_p.K302fs|ATP2B2_ENST00000360273.2_Splice_Site_p.K302fs			Q01814	AT2B2_HUMAN	ATPase, Ca++ transporting, plasma membrane 2	302					auditory receptor cell stereocilium organization (GO:0060088)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cerebellar granule cell differentiation (GO:0021707)|cerebellar Purkinje cell differentiation (GO:0021702)|cGMP metabolic process (GO:0046068)|cochlea development (GO:0090102)|cytosolic calcium ion homeostasis (GO:0051480)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|ion transmembrane transport (GO:0034220)|lactation (GO:0007595)|locomotion (GO:0040011)|locomotory behavior (GO:0007626)|neuromuscular process controlling balance (GO:0050885)|neuron differentiation (GO:0030182)|organelle organization (GO:0006996)|otolith mineralization (GO:0045299)|positive regulation of calcium ion transport (GO:0051928)|regulation of cell size (GO:0008361)|regulation of synaptic plasticity (GO:0048167)|sensory perception of sound (GO:0007605)|serotonin metabolic process (GO:0042428)|synapse organization (GO:0050808)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cilium (GO:0005929)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calcium-dependent ATPase activity (GO:0030899)|calcium-transporting ATPase activity (GO:0005388)|calmodulin binding (GO:0005516)|metal ion binding (GO:0046872)|PDZ domain binding (GO:0030165)|protein C-terminus binding (GO:0008022)	p.A303fs*56(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						TAGGCTTACCTTTTTTGTCTT	0.453																																					Ovarian(125;1619 1709 15675 19819 38835)	ENST00000397077.1																			1	Deletion - Frameshift(1)	p.A303fs*56(1)	large_intestine(1)	breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						c.e8+1		ATPase, Ca++ transporting, plasma membrane 2							283	257	266					3																	10429962		2203	4300	6503	SO:0001630	splice_region_variant	491				ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation	cytosol|integral to membrane|plasma membrane	ATP binding|calcium ion binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding	g.chr3:10429962delT	X63575	CCDS2601.1, CCDS33701.1	3p25.3	2010-04-20	2001-12-04		ENSG00000157087	ENSG00000157087	3.6.3.8	"ATPases / P-type"	815	protein-coding gene	gene with protein product	"plasma membrane Ca2+ pump 2", "plasma membrane calcium-transporting ATPase 2"	108733				1313367	Standard	NM_001001331		Approved	PMCA2	uc003bvt.3	Q01814	OTTHUMG00000128679	ENST00000352432.4:c.907+1A>-	3.37:g.10429962delT						ATP2B2_ENST00000352432.4_Splice_Site_p.K302_splice|ATP2B2_ENST00000343816.4_Splice_Site_p.K302_splice|ATP2B2_ENST00000383800.4_Splice_Site_p.K302_splice|ATP2B2_ENST00000360273.2_Splice_Site_p.K302_splice	p.K302_splice			Q01814	AT2B2_HUMAN			8	1481	-			302					O00766|Q12994|Q16818	Splice_Site	DEL	ENST00000352432.4	37	c.907_splice	CCDS33701.1																																																																																				0.453	ATP2B2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000250576.2	NM_001683	Frame_Shift_Del	48	94						48	94	---	---	---	---	-	10429962	T	-	10429962	8	5	94	1	0	1	0	1	0	0	1	0	1140	1623	56	0	2897	0	ATP2B2	3	10429962	Splice_Site	DEL	T	TCGA-EJ-7782-01A-11D-2114-08	37760	10429962	187592468	84	4903											
C3orf20	84077	broad.mit.edu	37	chr3	14746120	14746120	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttctatgatggctcctccttCgtttagtatccttttatttg	5	21	6	9	1	1	1	0	1	1	0	5	1	4	1	3	1	0	3	3	1	4	9			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr3:14746120C>T	ENST00000253697.3	+	7	1607	c.1155C>T	c.(1153-1155)ttC>ttT	p.F385F	C3orf20_ENST00000495387.1_3'UTR|C3orf20_ENST00000412910.1_Silent_p.F263F|C3orf20_ENST00000435614.1_Silent_p.F263F	NM_032137.4	NP_115513.4	Q8ND61	CC020_HUMAN	chromosome 3 open reading frame 20	385						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(13)|lung(11)|ovary(4)|skin(2)	40						GCTCCTCCTTCGTTTAGTATC	0.463																																						ENST00000253697.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(13)|lung(11)|ovary(4)|skin(2)	40						c.(1153-1155)ttC>ttT		chromosome 3 open reading frame 20							196	177	184					3																	14746120		2203	4300	6503	SO:0001819	synonymous_variant	84077					cytoplasm|integral to membrane		g.chr3:14746120C>T	AL136781	CCDS33706.1, CCDS54555.1	3p25.1	2011-01-25			ENSG00000131379	ENSG00000131379			25320	protein-coding gene	gene with protein product						11230166	Standard	NM_032137		Approved	DKFZP434N1817	uc003byy.3	Q8ND61	OTTHUMG00000155545	ENST00000253697.3:c.1155C>T	3.37:g.14746120C>T						C3orf20_ENST00000412910.1_Silent_p.F263F|C3orf20_ENST00000435614.1_Silent_p.F263F|C3orf20_ENST00000495387.1_3'UTR	p.F385F	NM_032137.4	NP_115513.4	Q8ND61	CC020_HUMAN			7	1607	+			385					Q7L0U6|Q8NCP2|Q9H0I7	Silent	SNP	ENST00000253697.3	37	c.1155C>T	CCDS33706.1																																																																																				0.463	C3orf20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340586.1	NM_032137		33	99	0	0	0	1	0	33	99					T	14746120	C	T	14746120	2	4	94	1	0	0	0	0	0	0	0	1	2213	883	31	2		2	C3orf20	3	14746120	Silent	SNP	C	TCGA-EJ-7782-01A-11D-2114-08	4316158	14746120	183276310	85	4904											
TOP2B	7155	broad.mit.edu	37	chr3	25674067	25674067	+	Frame_Shift_Del	DEL	T	T	-																															taataaaaacccatatatggTtttttacctgttgaaaacat																										TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr3:25674067delT	ENST00000264331.4	-	10	1135	c.1136delA	c.(1135-1137)aacfs	p.N379fs	TOP2B_ENST00000435706.2_Frame_Shift_Del_p.N374fs	NM_001068.2	NP_001059.2	Q02880	TOP2B_HUMAN	topoisomerase (DNA) II beta 180kDa	379					ATP catabolic process (GO:0006200)|axonogenesis (GO:0007409)|DNA topological change (GO:0006265)|DNA unwinding involved in DNA replication (GO:0006268)|forebrain development (GO:0030900)|mitotic DNA integrity checkpoint (GO:0044774)|mitotic recombination (GO:0006312)|neuron migration (GO:0001764)|resolution of meiotic recombination intermediates (GO:0000712)|sister chromatid segregation (GO:0000819)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|DNA topoisomerase complex (ATP-hydrolyzing) (GO:0009330)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding, bending (GO:0008301)|DNA topoisomerase type II (ATP-hydrolyzing) activity (GO:0003918)|enzyme binding (GO:0019899)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)|protein heterodimerization activity (GO:0046982)|protein kinase C binding (GO:0005080)			breast(2)|endometrium(5)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|skin(2)|stomach(1)	36					Dactinomycin(DB00970)|Daunorubicin(DB00694)|Dexrazoxane(DB00380)|Etoposide(DB00773)	CCATATATGGTTTTTTACCTG	0.299																																						ENST00000435706.2																			0				breast(2)|endometrium(5)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|skin(2)|stomach(1)	36						c.(1120-1122)acfs		topoisomerase (DNA) II beta 180kDa							38	36	37					3																	25674067		1785	4053	5838	SO:0001589	frameshift_variant	7155				DNA topological change|DNA-dependent DNA replication|mitotic cell cycle G2/M transition decatenation checkpoint|mitotic recombination|resolution of meiotic recombination intermediates|sister chromatid segregation	cytosol|DNA topoisomerase complex (ATP-hydrolyzing)|nucleolus|nucleoplasm|synaptonemal complex|WINAC complex	ATP binding|chromatin binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA-dependent ATPase activity|histone deacetylase binding|protein C-terminus binding|protein heterodimerization activity|protein kinase C binding|sequence-specific DNA binding transcription factor activity	g.chr3:25674067delT	X68060	CCDS46776.1	3p24.2	2012-08-30	2002-08-29		ENSG00000077097	ENSG00000077097	5.99.1.3		11990	protein-coding gene	gene with protein product		126431	"topoisomerase (DNA) II beta (180kD)"			1309226, 1333583	Standard	NM_001068		Approved		uc003cdj.3	Q02880	OTTHUMG00000155596	ENST00000264331.4:c.1136delA	3.37:g.25674067delT	ENSP00000264331:p.Asn379fs					TOP2B_ENST00000264331.4_Frame_Shift_Del_p.N379fs	p.N374fs			Q02880	TOP2B_HUMAN			10	1322	-			379					Q13600|Q9UMG8|Q9UQP8	Frame_Shift_Del	DEL	ENST00000264331.4	37	c.1121delA																																																																																					0.299	TOP2B-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding				14	21						14	21	---	---	---	---	-	25674067	T	-	25674067	7	5	94	1	0	1	0	1	0	0	0	0	16363	1725	60	0	3852	0	TOP2B	3	25674067	Frame_Shift_Del	DEL	T	TCGA-EJ-7782-01A-11D-2114-08	10927947	25674067	172348363	86	4905											
OSBPL10	114884	broad.mit.edu	37	chr3	31705656	31705656	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gttgcttctcctccaggtgcCgcttctgctcggtggctgcg	1	13	13	14	3	2	0	0	0	2	0	5	0	3	0	3	3	4	5	3	3	0	3			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr3:31705656C>T	ENST00000396556.2	-	11	2287	c.2165G>A	c.(2164-2166)cGg>cAg	p.R722Q	OSBPL10_ENST00000438237.2_Missense_Mutation_p.R658Q	NM_017784.4	NP_060254.2	Q9BXB5	OSB10_HUMAN	oxysterol binding protein-like 10	722					lipid transport (GO:0006869)		cholesterol binding (GO:0015485)			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	34				STAD - Stomach adenocarcinoma(1;0.00406)		CTCCAGGTGCCGCTTCTGCTC	0.602																																						ENST00000396556.2																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						c.(2164-2166)cGg>cAg		oxysterol binding protein-like 10							112	102	106					3																	31705656		2203	4300	6503	SO:0001583	missense	114884				lipid transport		lipid binding	g.chr3:31705656C>T	AF392451	CCDS2651.1, CCDS54559.1	3p23	2013-01-10			ENSG00000144645	ENSG00000144645		"Oxysterol binding proteins", "Pleckstrin homology (PH) domain containing"	16395	protein-coding gene	gene with protein product		606738					Standard	NM_001174060		Approved		uc021wuu.1	Q9BXB5	OTTHUMG00000130672	ENST00000396556.2:c.2165G>A	3.37:g.31705656C>T	ENSP00000379804:p.Arg722Gln					OSBPL10_ENST00000438237.2_Missense_Mutation_p.R658Q	p.R722Q	NM_017784.4	NP_060254.2	Q9BXB5	OSB10_HUMAN		STAD - Stomach adenocarcinoma(1;0.00406)	11	2287	-			722					B4E212|Q9BTU5	Missense_Mutation	SNP	ENST00000396556.2	37	c.2165G>A	CCDS2651.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.00|19.00	3.741318|3.741318	0.69304|0.69304	.|.	.|.	ENSG00000144645|ENSG00000144645	ENST00000429492|ENST00000396556;ENST00000438237	.|T;T	.|0.27557	.|1.66;1.66	5.25|5.25	4.36|4.36	0.52297|0.52297	.|.	.|0.051590	.|0.85682	.|D	.|0.000000	T|T	0.21631|0.21631	0.0521|0.0521	N|N	0.17901|0.17901	0.54|0.54	0.37026|0.37026	D|D	0.89644|0.89644	.|D;B;P	.|0.58970	.|0.984;0.209;0.882	.|P;B;P	.|0.49597	.|0.616;0.049;0.523	T|T	0.03750|0.03750	-1.1007|-1.1007	5|10	.|0.10902	.|T	.|0.67	-24.6464|-24.6464	7.999|7.999	0.30286|0.30286	0.0:0.7756:0.0:0.2244|0.0:0.7756:0.0:0.2244	.|.	.|658;722;490	.|B4E212;Q9BXB5;Q59ED9	.|.;OSB10_HUMAN;.	S|Q	491|722;658	.|ENSP00000379804:R722Q;ENSP00000406124:R658Q	.|ENSP00000379804:R722Q	G|R	-|-	1|2	0|0	OSBPL10|OSBPL10	31680660|31680660	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	4.824000|4.824000	0.62701|0.62701	2.635000|2.635000	0.89317|0.89317	0.655000|0.655000	0.94253|0.94253	GGC|CGG		0.602	OSBPL10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253165.2			6	66	0	0	0	1	0	6	66					T	31705656	C	T	31705656	3	4	94	1	0	0	0	0	1	0	0	0	11275	652	23	2	137	2	OSBPL10	3	31705656	Missense_Mutation	SNP	C	TCGA-EJ-7782-01A-11D-2114-08	6031589	31705656	166316774	87	4906											
VILL	50853	broad.mit.edu	37	chr3	38038579	38038579	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctggcaggtggagctctcCtggaacagctttaataaggg	9	10	13	9	0	2	0	0	0	2	0	3	2	2	2	1	5	3	3	1	5	3	3			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr3:38038579C>A	ENST00000283713.6	+	6	728	c.462C>A	c.(460-462)tcC>tcA	p.S154S	VILL_ENST00000465644.1_Intron|VILL_ENST00000383759.2_Silent_p.S154S			O15195	VILL_HUMAN	villin-like	154					actin filament capping (GO:0051693)|cytoskeleton organization (GO:0007010)	actin cytoskeleton (GO:0015629)	structural constituent of cytoskeleton (GO:0005200)			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|stomach(3)|urinary_tract(2)	28				KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)		TGGAGCTCTCCTGGAACAGCT	0.542											OREG0015474	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000283713.6																			0				cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|stomach(3)|urinary_tract(2)	28						c.(460-462)tcC>tcA		villin-like							123	114	117					3																	38038579		2203	4300	6503	SO:0001819	synonymous_variant	50853				actin filament capping|cytoskeleton organization	actin cytoskeleton	actin binding|structural constituent of cytoskeleton	g.chr3:38038579C>A		CCDS2670.2	3p21	2004-07-28			ENSG00000136059	ENSG00000136059			30906	protein-coding gene	gene with protein product						9179494	Standard	XM_005265191		Approved		uc003chl.3	O15195	OTTHUMG00000130814	ENST00000283713.6:c.462C>A	3.37:g.38038579C>A			OREG0015474	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	875	VILL_ENST00000465644.1_Intron|VILL_ENST00000383759.2_Silent_p.S154S	p.S154S			O15195	VILL_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)	6	728	+			154					A8MZP1|Q9BT80|Q9BWH7	Silent	SNP	ENST00000283713.6	37	c.462C>A	CCDS2670.2																																																																																				0.542	VILL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253360.3	NM_015873		6	71	1	0	2.0095e-06	1	2.09102e-06	6	71					A	38038579	C	A	38038579	2	1	94	1	0	0	0	0	0	0	0	1	17162	668	24	5		5	VILL	3	38038579	Silent	SNP	C	TCGA-EJ-7782-01A-11D-2114-08	6332923	38038579	159983851	88	4907											
ACAA1	30	broad.mit.edu	37	chr3	38167143	38167143	+	Frame_Shift_Del	DEL	C	C	-																															ggtgccctaaggccactgcaCcccccagggggttcaccttc																										TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr3:38167143delC	ENST00000333167.8	-	11	1284	c.1112delG	c.(1111-1113)ggtfs	p.G371fs	Y_RNA_ENST00000365095.1_RNA|ACAA1_ENST00000301810.7_Frame_Shift_Del_p.G278fs|ACAA1_ENST00000450296.1_Frame_Shift_Del_p.G330fs|ACAA1_ENST00000480865.1_5'UTR	NM_001607.3	NP_001598.1	P09110	THIK_HUMAN	acetyl-CoA acyltransferase 1	371					alpha-linolenic acid metabolic process (GO:0036109)|bile acid metabolic process (GO:0008206)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|small molecule metabolic process (GO:0044281)|unsaturated fatty acid metabolic process (GO:0033559)|very long-chain fatty acid metabolic process (GO:0000038)	intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	acetyl-CoA C-acyltransferase activity (GO:0003988)|palmitoyl-CoA oxidase activity (GO:0016401)			endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)	9				KIRC - Kidney renal clear cell carcinoma(284;0.0523)|Kidney(284;0.0657)		GGCCACTGCACCCCCCAGGGG	0.607																																						ENST00000333167.8																			0				endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)	9						c.(1111-1113)gtfs		acetyl-CoA acyltransferase 1							56	55	55					3																	38167143		2203	4300	6503	SO:0001589	frameshift_variant	30				fatty acid beta-oxidation using acyl-CoA oxidase|generation of precursor metabolites and energy	peroxisomal matrix	acetyl-CoA C-acyltransferase activity|protein binding	g.chr3:38167143delC	X14813	CCDS2673.1, CCDS46794.1	3p22.2	2012-05-16	2010-04-30		ENSG00000060971	ENSG00000060971	2.3.1.16		82	protein-coding gene	gene with protein product	"peroxisomal 3-oxoacyl-Coenzyme A thiolase"	604054	"acetyl-Coenzyme A acyltransferase 1"				Standard	NM_001607		Approved		uc003cht.3	P09110	OTTHUMG00000131087	ENST00000333167.8:c.1112delG	3.37:g.38167143delC	ENSP00000333664:p.Gly371fs					ACAA1_ENST00000450296.1_Frame_Shift_Del_p.G330fs|ACAA1_ENST00000301810.7_Frame_Shift_Del_p.G278fs|ACAA1_ENST00000480865.1_5'UTR	p.G371fs	NM_001607.3	NP_001598.1	P09110	THIK_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0523)|Kidney(284;0.0657)	11	1284	-			371					G5E935|Q96CA6	Frame_Shift_Del	DEL	ENST00000333167.8	37	c.1112delG	CCDS2673.1																																																																																				0.607	ACAA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342980.1	NM_001607		24	60						24	60	---	---	---	---	-	38167143	C	-	38167143	7	5	94	1	0	1	0	1	0	0	0	0	104	507	18	0	170	0	ACAA1	3	38167143	Frame_Shift_Del	DEL	C	TCGA-EJ-7782-01A-11D-2114-08	128564	38167143	159855287	89	4908											
MYRIP	25924	broad.mit.edu	37	chr3	40251426	40251426	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cagacaccacagaggagaaaCggagaaacaggctgtacgag	17	2	13	9	2	0	4	0	0	0	4	0	7	0	4	1	3	3	2	1	3	3	1			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr3:40251426C>T	ENST00000302541.6	+	11	2089	c.1747C>T	c.(1747-1749)Cgg>Tgg	p.R583W	MYRIP_ENST00000444716.1_Missense_Mutation_p.R583W|MYRIP_ENST00000396217.3_Missense_Mutation_p.R494W|MYRIP_ENST00000425621.1_Missense_Mutation_p.R583W|RN7SL411P_ENST00000585204.1_RNA|MYRIP_ENST00000459828.1_3'UTR|MYRIP_ENST00000539167.1_Missense_Mutation_p.R396W	NM_001284423.1|NM_001284426.1|NM_015460.2	NP_001271352.1|NP_001271355.1|NP_056275.2	Q8NFW9	MYRIP_HUMAN	myosin VIIA and Rab interacting protein	583	Actin-binding.				intracellular protein transport (GO:0006886)|positive regulation of insulin secretion (GO:0032024)	actin cytoskeleton (GO:0015629)|dense core granule (GO:0031045)|exocyst (GO:0000145)|melanosome (GO:0042470)|perinuclear region of cytoplasm (GO:0048471)|photoreceptor outer segment (GO:0001750)|synapse (GO:0045202)	zinc ion binding (GO:0008270)	p.R583W(1)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(2)|lung(10)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				KIRC - Kidney renal clear cell carcinoma(284;0.174)|Kidney(284;0.206)		AGAGGAGAAACGGAGAAACAG	0.478																																						ENST00000302541.6																			1	Substitution - Missense(1)	p.R583W(1)	skin(1)	breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(2)|lung(10)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						c.(1747-1749)Cgg>Tgg		myosin VIIA and Rab interacting protein							102	97	99					3																	40251426		2203	4300	6503	SO:0001583	missense	25924				intracellular protein transport		actin binding|zinc ion binding	g.chr3:40251426C>T	AF396687	CCDS2689.1, CCDS68390.1, CCDS68391.1, CCDS68392.1	3p21.33	2010-08-20			ENSG00000170011	ENSG00000170011		"A-kinase anchor proteins"	19156	protein-coding gene	gene with protein product	"synaptotagmin-like protein homologue lacking C2 domains-c", "rab effector MYRIP", "Slp homologue lacking C2 domains"	611790				11964381, 12221080	Standard	NM_001284425		Approved	DKFZp586F1018, exophilin-8, MyRIP, SLAC2-C, SLAC2C	uc003cka.3	Q8NFW9	OTTHUMG00000131392	ENST00000302541.6:c.1747C>T	3.37:g.40251426C>T	ENSP00000301972:p.Arg583Trp					MYRIP_ENST00000539167.1_Missense_Mutation_p.R396W|MYRIP_ENST00000425621.1_Missense_Mutation_p.R583W|MYRIP_ENST00000396217.3_Missense_Mutation_p.R494W|MYRIP_ENST00000459828.1_3'UTR|MYRIP_ENST00000444716.1_Missense_Mutation_p.R583W	p.R583W	NM_015460.2	NP_056275.2	Q8NFW9	MYRIP_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.174)|Kidney(284;0.206)	11	2089	+			583			Actin-binding.		B3KWM3|B3KWW4|B7Z2H1|B7Z9V3|G3XAI8|Q32M41|Q32M42|Q569F7|Q8IUF5|Q9Y3V4	Missense_Mutation	SNP	ENST00000302541.6	37	c.1747C>T	CCDS2689.1	.	.	.	.	.	.	.	.	.	.	C	18.50	3.637844	0.67130	.	.	ENSG00000170011	ENST00000444716;ENST00000302541;ENST00000425621;ENST00000396217;ENST00000539167	T;T;T;T;T	0.23950	1.88;1.88;1.88;1.88;1.88	5.54	3.68	0.42216	Myelin-associated oligodendrocytic basic protein (MOBP) (1);	0.827269	0.10705	N	0.643516	T	0.28764	0.0713	N	0.22421	0.69	0.24998	N	0.99149	D;D;D	0.69078	0.997;0.987;0.983	P;P;P	0.53722	0.733;0.528;0.545	T	0.18398	-1.0338	9	.	.	.	.	12.701	0.57032	0.0:0.5587:0.4413:0.0	.	494;583;583	Q32M42;G3XAI8;Q8NFW9	.;.;MYRIP_HUMAN	W	583;583;583;494;396	ENSP00000398665:R583W;ENSP00000301972:R583W;ENSP00000389323:R583W;ENSP00000379519:R494W;ENSP00000438297:R396W	.	R	+	1	2	MYRIP	40226430	0.918000	0.31147	0.811000	0.32455	0.893000	0.52053	1.311000	0.33562	0.590000	0.29694	0.655000	0.94253	CGG		0.478	MYRIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254181.2	NM_015460		5	80	0	0	0	1	0	5	80					T	40251426	C	T	40251426	3	4	94	1	0	0	0	0	1	0	0	0	10100	527	19	1	1785	1	MYRIP	3	40251426	Missense_Mutation	SNP	C	TCGA-EJ-7782-01A-11D-2114-08	2084283	40251426	157771004	90	4909											
LARS2	23395	broad.mit.edu	37	chr3	45559536	45559536	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agctgaggccaggaagctctGggagtacaagaactccgtca	12	6	13	10	1	2	2	1	1	1	1	3	4	3	4	2	3	4	3	2	3	4	1			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr3:45559536G>T	ENST00000415258.1	+	17	2327	c.2186G>T	c.(2185-2187)tGg>tTg	p.W729L	LARS2_ENST00000265537.3_Missense_Mutation_p.W729L|LARS2_ENST00000414984.1_Missense_Mutation_p.W686L|LARS2_ENST00000467936.1_3'UTR			Q15031	SYLM_HUMAN	leucyl-tRNA synthetase 2, mitochondrial	729					gene expression (GO:0010467)|leucyl-tRNA aminoacylation (GO:0006429)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrial matrix (GO:0005759)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|leucine-tRNA ligase activity (GO:0004823)			endometrium(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	18				BRCA - Breast invasive adenocarcinoma(193;0.0122)|KIRC - Kidney renal clear cell carcinoma(197;0.0313)|Kidney(197;0.0372)	L-Leucine(DB00149)	AGGAAGCTCTGGGAGTACAAG	0.517																																						ENST00000415258.1																			0				endometrium(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	18						c.(2185-2187)tGg>tTg		leucyl-tRNA synthetase 2, mitochondrial	L-Leucine(DB00149)						51	48	49					3																	45559536		2203	4300	6503	SO:0001583	missense	23395				leucyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|leucine-tRNA ligase activity	g.chr3:45559536G>T	AJ312685	CCDS2728.1	3p21.3	2012-10-26			ENSG00000011376	ENSG00000011376	6.1.1.4	"Aminoacyl tRNA synthetases / Class I"	17095	protein-coding gene	gene with protein product	"leucine tRNA ligase 2, mitochondrial"	604544				20194621, 15123417	Standard	NM_015340		Approved	KIAA0028, LEURS, MGC26121	uc003cop.1	Q15031	OTTHUMG00000133177	ENST00000415258.1:c.2186G>T	3.37:g.45559536G>T	ENSP00000408576:p.Trp729Leu					LARS2_ENST00000467936.1_3'UTR|LARS2_ENST00000414984.1_Missense_Mutation_p.W686L|LARS2_ENST00000265537.3_Missense_Mutation_p.W729L	p.W729L			Q15031	SYLM_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.0122)|KIRC - Kidney renal clear cell carcinoma(197;0.0313)|Kidney(197;0.0372)	17	2327	+			729						Missense_Mutation	SNP	ENST00000415258.1	37	c.2186G>T	CCDS2728.1	.	.	.	.	.	.	.	.	.	.	G	11.13	1.548566	0.27652	.	.	ENSG00000011376	ENST00000265537;ENST00000415258;ENST00000414984	T;T;T	0.05855	3.38;3.38;3.38	5.66	3.72	0.42706	Valyl/Leucyl/Isoleucyl-tRNA synthetase, class I, anticodon-binding (1);Aminoacyl-tRNA synthetase, class 1a, anticodon-binding (1);	0.189858	0.49916	D	0.000133	T	0.08980	0.0222	L	0.46741	1.465	0.80722	D	1	P;P	0.51537	0.946;0.904	P;P	0.48598	0.583;0.583	T	0.17198	-1.0377	10	0.25106	T	0.35	-5.603	10.7222	0.46046	0.0695:0.0:0.8002:0.1303	.	686;729	E9PHM2;Q15031	.;SYLM_HUMAN	L	729;729;686	ENSP00000265537:W729L;ENSP00000408576:W729L;ENSP00000412893:W686L	ENSP00000265537:W729L	W	+	2	0	LARS2	45534540	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	5.059000	0.64306	2.666000	0.90696	0.655000	0.94253	TGG		0.517	LARS2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345001.1	NM_015340		7	22	1	0	0.00198382	1	0.00201126	7	22					T	45559536	G	T	45559536	3	4	94	1	0	0	0	0	1	0	0	0	8635	1357	47	5	2248	5	LARS2	3	45559536	Missense_Mutation	SNP	G	TCGA-EJ-7782-01A-11D-2114-08	5308110	45559536	152462894	91	4910											
COL7A1	1294	broad.mit.edu	37	chr3	48626076	48626076	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcgcatgctctgcctacgCgtagtgacaacaatggagac	11	7	11	12	3	1	2	0	1	1	1	1	3	1	2	1	1	5	3	1	1	4	2	rs537416600		TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr3:48626076C>T	ENST00000328333.8	-	19	2693	c.2586G>A	c.(2584-2586)acG>acA	p.T862T	COL7A1_ENST00000454817.1_Splice_Site_p.T862T	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	862	Fibronectin type-III 7. {ECO:0000255|PROSITE-ProRule:PRU00316}.|Nonhelical region (NC1).				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|collagen type VII trimer (GO:0005590)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	serine-type endopeptidase inhibitor activity (GO:0004867)			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		TCTGCCTACGCGTAGTGACAA	0.587													C|||	1	0.000199681	0	0	5008	,	,		19765	0		0.001	False		,,,				2504	0					ENST00000328333.8																			0				NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137						c.e19+1		collagen, type VII, alpha 1							68	71	70					3																	48626076		2203	4300	6503	SO:0001630	splice_region_variant	1294				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity	g.chr3:48626076C>T	L02870	CCDS2773.1	3p21.1	2014-09-17	2008-08-01		ENSG00000114270	ENSG00000114270		"Collagens", "Fibronectin type III domain containing"	2214	protein-coding gene	gene with protein product	"collagen VII, alpha-1 polypeptide", "LC collagen"	120120	"epidermolysis bullosa, dystrophic, dominant and recessive"	EBDCT, EBD1, EBR1		1871109	Standard	NM_000094		Approved		uc003ctz.2	Q02388	OTTHUMG00000133541	ENST00000328333.8:c.2587+1G>A	3.37:g.48626076C>T						COL7A1_ENST00000454817.1_Splice_Site_p.T862_splice	p.T862_splice	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)	19	2693	-			862			Fibronectin type-III 7.|Nonhelical region (NC1).		Q14054|Q16507	Splice_Site	SNP	ENST00000328333.8	37	c.2587_splice	CCDS2773.1																																																																																				0.587	COL7A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257519.1	NM_000094	Silent	19	30	0	0	0	1	0	19	30					T	48626076	C	T	48626076	5	4	94	1	0	0	0	0	0	0	1	0	3704	782	27	1	6648	1	COL7A1	3	48626076	Splice_Site	SNP	C	TCGA-EJ-7782-01A-11D-2114-08	3066540	48626076	149396354	92	4911											
GMPPB	29925	broad.mit.edu	37	chr3	49759676	49759676	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcctcaccaccagcacgttGcccacaatgccagggcctga	9	5	10	17	1	1	1	1	1	0	0	1	1	1	1	6	2	3	2	6	2	1	1			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr3:49759676G>A	ENST00000480687.1	-	8	872	c.756C>T	c.(754-756)ggC>ggT	p.G252G	AMIGO3_ENST00000320431.7_5'Flank|AMIGO3_ENST00000535833.1_5'UTR|GMPPB_ENST00000308375.6_Silent_p.G252G|GMPPB_ENST00000308388.6_Silent_p.G252G			Q9Y5P6	GMPPB_HUMAN	GDP-mannose pyrophosphorylase B	252					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|GDP-mannose biosynthetic process (GO:0009298)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)|mannose-1-phosphate guanylyltransferase activity (GO:0004475)			endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|skin(1)	6				BRCA - Breast invasive adenocarcinoma(193;4.53e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		CCAGCACGTTGCCCACAATGC	0.602																																						ENST00000480687.1																			0				endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|skin(1)	6						c.(754-756)ggC>ggT		GDP-mannose pyrophosphorylase B							67	70	69					3																	49759676		2203	4300	6503	SO:0001819	synonymous_variant	29925				dolichol-linked oligosaccharide biosynthetic process|GDP-mannose biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine		GTP binding|mannose-1-phosphate guanylyltransferase activity	g.chr3:49759676G>A	AF135421	CCDS2802.1, CCDS2803.1	3p21.31	2008-02-05			ENSG00000173540	ENSG00000173540	2.7.7.22		22932	protein-coding gene	gene with protein product		615320					Standard	NM_013334		Approved	KIAA1851	uc003cxl.1	Q9Y5P6	OTTHUMG00000158151	ENST00000480687.1:c.756C>T	3.37:g.49759676G>A						GMPPB_ENST00000308388.6_Silent_p.G252G|AMIGO3_ENST00000535833.1_5'UTR|GMPPB_ENST00000308375.6_Silent_p.G252G	p.G252G			Q9Y5P6	GMPPB_HUMAN		BRCA - Breast invasive adenocarcinoma(193;4.53e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	8	872	-			252					A8K6N5|Q9H7U3	Silent	SNP	ENST00000480687.1	37	c.756C>T	CCDS2803.1																																																																																				0.602	GMPPB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350291.1	NM_013334		6	46	0	0	0	1	0	6	46					A	49759676	G	A	49759676	2	1	94	1	0	0	0	0	0	0	0	1	6495	1306	46	3		3	GMPPB	3	49759676	Silent	SNP	G	TCGA-EJ-7782-01A-11D-2114-08	1133600	49759676	148262754	93	4912											
SEMA3B	7869	broad.mit.edu	37	chr3	50312859	50312859	+	RNA	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actgcgcctgggacggggtcGcgtgcacgcgcttccagccc	4	6	15	16	6	0	0	0	0	0	0	2	1	1	1	3	3	3	2	3	3	0	1			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr3:50312859G>A	ENST00000418948.1	+	0	1852							Q13214	SEM3B_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3B						axon guidance (GO:0007411)|cell-cell signaling (GO:0007267)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	receptor activity (GO:0004872)			central_nervous_system(2)|kidney(1)|lung(2)|skin(1)	6				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)		GGACGGGGTCGCGTGCACGCG	0.716																																						ENST00000418948.1																			0				central_nervous_system(2)|kidney(1)|lung(2)|skin(1)	6								sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3B							9	12	11					3																	50312859		1941	4108	6049			7869				axon guidance|cell-cell signaling	endoplasmic reticulum|extracellular region|membrane	receptor activity	g.chr3:50312859G>A	U28369	CCDS74941.1	3p21.3	2013-01-11			ENSG00000012171	ENSG00000012171		"Semaphorins", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	10724	protein-coding gene	gene with protein product		601281		SEMAA		7748561, 8633026	Standard	NM_004636		Approved	SemA, semaV, LUCA-1, sema5	uc003cyu.3	Q13214	OTTHUMG00000156970		3.37:g.50312859G>A										Q13214	SEM3B_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)	0	1852	+								Q6GU46|Q8TB71|Q8TDV7|Q93018|Q96GX0	RNA	SNP	ENST00000418948.1	37			.	.	.	.	.	.	.	.	.	.	G	14.01	2.407046	0.42715	.	.	ENSG00000012171	ENST00000316347	.	.	.	5.04	1.19	0.21007	.	0.576827	0.19152	N	0.121404	T	0.32823	0.0842	.	.	.	.	.	.	B;B;B;B	0.21147	0.002;0.052;0.002;0.003	B;B;B;B	0.24394	0.002;0.053;0.002;0.009	T	0.28235	-1.0050	7	0.31617	T	0.26	.	7.8419	0.29403	0.4384:0.0:0.5616:0.0	.	539;289;539;540	Q13214-2;Q59FY7;F5H2H7;Q13214	.;.;.;SEM3B_HUMAN	T	539	.	ENSP00000446262:A539T	A	+	1	0	SEMA3B	50287863	0.000000	0.05858	0.002000	0.10522	0.991000	0.79684	-1.129000	0.03244	-0.056000	0.13221	0.462000	0.41574	GCG		0.716	SEMA3B-001	KNOWN	sequence_error|basic	processed_transcript	processed_transcript	OTTHUMT00000346890.2	NM_001005914		5	12	0	0	0	1	0	5	12					A	50312859	G	A	50312859	1	1	94	0	1	0	0	0	0	0	0	0	14025	1087	38	1		1	SEMA3B	3	50312859	RNA	SNP	G	TCGA-EJ-7782-01A-11D-2114-08	553183	50312859	147709571	94	4913											
NAT6	24142	broad.mit.edu	37	chr3	50334626	50334626	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actggcccagggagtgcaggCgggaggtgcggctgcggggc	5	4	22	10	3	0	0	0	0	0	0	0	2	0	2	1	8	3	2	1	8	0	0			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr3:50334626C>T	ENST00000443842.1	-	2	1076	c.269G>A	c.(268-270)cGc>cAc	p.R90H	HYAL3_ENST00000336307.1_Intron|HYAL3_ENST00000359051.3_Intron|HYAL3_ENST00000450982.1_Intron|HYAL3_ENST00000513170.1_Intron|NAT6_ENST00000443094.2_Missense_Mutation_p.R90H|HYAL3_ENST00000415204.1_Intron|NAT6_ENST00000417393.1_Missense_Mutation_p.R90H|NAT6_ENST00000354862.4_Missense_Mutation_p.R112H			Q93015	NAT6_HUMAN	N-acetyltransferase 6 (GCN5-related)	90	N-acetyltransferase. {ECO:0000255|PROSITE-ProRule:PRU00532}.					cytoplasm (GO:0005737)	N-acetyltransferase activity (GO:0008080)			endometrium(3)|lung(1)|skin(1)	5				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)		GGAGTGCAGGCGGGAGGTGCG	0.647																																						ENST00000443842.1																			0				endometrium(3)|lung(1)|skin(1)	5						c.(268-270)cGc>cAc		N-acetyltransferase 6 (GCN5-related)							31	41	38					3																	50334626		2117	4215	6332	SO:0001583	missense	24142							g.chr3:50334626C>T	AF040705	CCDS43095.1, CCDS56258.1	3p21.3	2011-11-16	2008-09-24		ENSG00000243477	ENSG00000243477	2.3.1.-		30252	protein-coding gene	gene with protein product		607073	"N-acetyltransferase 6"			11929860, 11085536	Standard	NM_012191		Approved	FUS2		Q93015	OTTHUMG00000156939	ENST00000443842.1:c.269G>A	3.37:g.50334626C>T	ENSP00000400559:p.Arg90His					NAT6_ENST00000443094.2_Missense_Mutation_p.R90H|NAT6_ENST00000354862.4_Missense_Mutation_p.R112H|HYAL3_ENST00000336307.1_Intron|HYAL3_ENST00000513170.1_Intron|NAT6_ENST00000417393.1_Missense_Mutation_p.R90H|HYAL3_ENST00000415204.1_Intron|HYAL3_ENST00000359051.3_Intron|HYAL3_ENST00000450982.1_Intron	p.R90H						BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)	2	1076	-								Q93014	Missense_Mutation	SNP	ENST00000443842.1	37	c.269G>A	CCDS56258.1	.	.	.	.	.	.	.	.	.	.	C	33	5.260556	0.95368	.	.	ENSG00000243477	ENST00000354862;ENST00000417393;ENST00000443094;ENST00000443842	.	.	.	5.48	5.48	0.80851	GCN5-related N-acetyltransferase (GNAT) domain (1);Acyl-CoA N-acyltransferase (2);	0.000000	0.56097	U	0.000039	T	0.79423	0.4443	M	0.75884	2.315	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.81529	-0.0891	9	0.87932	D	0	-15.7482	16.8484	0.85987	0.0:1.0:0.0:0.0	.	112;90	Q93015-2;Q93015	.;NAT6_HUMAN	H	112;90;90;90	.	ENSP00000346927:R112H	R	-	2	0	NAT6	50309630	1.000000	0.71417	0.998000	0.56505	0.886000	0.51366	7.396000	0.79891	2.581000	0.87130	0.655000	0.94253	CGC		0.647	NAT6-002	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000346681.1	NM_012191		4	44	0	0	0	1	0	4	44					T	50334626	C	T	50334626	3	4	94	1	0	0	0	0	1	0	0	0	10178	768	27	1	595	1	NAT6	3	50334626	Missense_Mutation	SNP	C	TCGA-EJ-7782-01A-11D-2114-08	21767	50334626	147687804	95	4914											
NISCH	11188	broad.mit.edu	37	chr3	52526219	52526219	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggctggacgatggccgccgCgtccgggacctggaccgagt	5	5	17	14	7	0	0	0	0	0	0	1	5	1	3	5	5	0	1	5	5	0	0			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr3:52526219C>T	ENST00000479054.1	+	22	4308	c.4236C>T	c.(4234-4236)cgC>cgT	p.R1412R	NISCH_ENST00000345716.4_Silent_p.R1412R			Q9Y2I1	NISCH_HUMAN	nischarin	1412					actin cytoskeleton organization (GO:0030036)|apoptotic process (GO:0006915)|glucose metabolic process (GO:0006006)|negative regulation of cell migration (GO:0030336)|norepinephrine secretion (GO:0048243)|Rac protein signal transduction (GO:0016601)|regulation of blood pressure (GO:0008217)|regulation of synaptic transmission, GABAergic (GO:0032228)	cytosol (GO:0005829)|endosome (GO:0005768)|membrane (GO:0016020)|plasma membrane (GO:0005886)	G-protein coupled amine receptor activity (GO:0008227)|identical protein binding (GO:0042802)|phosphatidylinositol binding (GO:0035091)			NS(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	33				BRCA - Breast invasive adenocarcinoma(193;1.93e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)|OV - Ovarian serous cystadenocarcinoma(275;0.0577)	Tizanidine(DB00697)	ATGGCCGCCGCGTCCGGGACC	0.627																																						ENST00000345716.4																			0				NS(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	33						c.(4234-4236)cgC>cgT		nischarin							69	72	71					3																	52526219		2203	4299	6502	SO:0001819	synonymous_variant	11188				apoptosis|cell communication	cytosol|early endosome|plasma membrane|recycling endosome	phosphatidylinositol binding|receptor activity	g.chr3:52526219C>T	AF082516	CCDS33767.1, CCDS63651.1, CCDS63652.1	3p21.1	2008-07-18			ENSG00000010322	ENSG00000010322			18006	protein-coding gene	gene with protein product	"imidazoline receptor candidate", "I-1 receptor candidate protein", "imidazoline receptor antisera selected"	615507				11912194, 10882231	Standard	NM_007184		Approved	KIAA0975, I-1, IRAS	uc003ded.4	Q9Y2I1	OTTHUMG00000158571	ENST00000479054.1:c.4236C>T	3.37:g.52526219C>T						NISCH_ENST00000479054.1_Silent_p.R1412R	p.R1412R	NM_007184.3	NP_009115.2	Q9Y2I1	NISCH_HUMAN		BRCA - Breast invasive adenocarcinoma(193;1.93e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)|OV - Ovarian serous cystadenocarcinoma(275;0.0577)	21	4370	+			1412					C9J245|Q6PGP3|Q6PIB4|Q7L8M3|Q7Z2X6|Q9UES6|Q9UEU4|Q9UFW3	Silent	SNP	ENST00000479054.1	37	c.4236C>T	CCDS33767.1																																																																																				0.627	NISCH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351357.1	NM_007184		18	62	0	0	0	1	0	18	62					T	52526219	C	T	52526219	2	4	94	1	0	0	0	0	0	0	0	1	10432	755	27	1		1	NISCH	3	52526219	Silent	SNP	C	TCGA-EJ-7782-01A-11D-2114-08	2191593	52526219	145496211	96	4915											
CACNA2D3	55799	broad.mit.edu	37	chr3	54930848	54930848	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctctctggtaccgaagagcCgctgagcagattccagggag	9	7	13	12	2	1	3	0	1	1	2	3	5	2	4	4	2	3	3	4	2	2	2	rs373671539		TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr3:54930848C>T	ENST00000474759.1	+	26	2367	c.2319C>T	c.(2317-2319)gcC>gcT	p.A773A	CACNA2D3-AS1_ENST00000471265.1_RNA|CACNA2D3_ENST00000490478.1_Silent_p.A679A|CACNA2D3_ENST00000415676.2_Silent_p.A773A|CACNA2D3_ENST00000288197.5_Silent_p.A773A	NM_018398.2	NP_060868.2	Q8IZS8	CA2D3_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 3	773						integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3)	59				KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)	Amlodipine(DB00381)|Nilvadipine(DB06712)|Spironolactone(DB00421)	ACCGAAGAGCCGCTGAGCAGA	0.532																																						ENST00000474759.1																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3)	59						c.(2317-2319)gcC>gcT		calcium channel, voltage-dependent, alpha 2/delta subunit 3		C		0,3942		0,0,1971	119	120	120		2319	-11.5	0	3		120	1,8313		0,1,4156	no	coding-synonymous	CACNA2D3	NM_018398.2		0,1,6127	TT,TC,CC		0.012,0.0,0.0082		773/1092	54930848	1,12255	1971	4157	6128	SO:0001819	synonymous_variant	55799					integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity	g.chr3:54930848C>T	AJ272268	CCDS54598.1	3p21.1	2010-10-05	2008-02-26		ENSG00000157445	ENSG00000157445		"Calcium channel subunits"	15460	protein-coding gene	gene with protein product		606399				11245980	Standard	XM_005265318		Approved	HSA272268	uc003dhf.3	Q8IZS8	OTTHUMG00000158580	ENST00000474759.1:c.2319C>T	3.37:g.54930848C>T						CACNA2D3-AS1_ENST00000471265.1_RNA|CACNA2D3_ENST00000415676.2_Silent_p.A773A|CACNA2D3_ENST00000490478.1_Silent_p.A679A|CACNA2D3_ENST00000288197.5_Silent_p.A773A	p.A773A	NM_018398.2	NP_060868.2	Q8IZS8	CA2D3_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)	26	2367	+			773					B2RPL6|Q9NY16|Q9NY18	Silent	SNP	ENST00000474759.1	37	c.2319C>T	CCDS54598.1																																																																																				0.532	CACNA2D3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351402.1			22	37	0	0	0	1	0	22	37					T	54930848	C	T	54930848	2	4	94	1	0	0	0	0	0	0	0	1	2550	639	23	2		2	CACNA2D3	3	54930848	Silent	SNP	C	TCGA-EJ-7782-01A-11D-2114-08	2404629	54930848	143091582	97	4916											
C3orf63	23272	broad.mit.edu	37	chr3	56682861	56682861	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agaacttacaagtaactatgCttctaggttcttgaaataga	15	13	7	6	0	2	3	0	1	2	2	2	3	2	3	0	1	4	3	0	1	8	8			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr3:56682861C>T	ENST00000493960.2	-	13	1512	c.1502G>A	c.(1501-1503)aGc>aAc	p.S501N	FAM208A_ENST00000431842.2_Missense_Mutation_p.S105N|FAM208A_ENST00000355628.5_Missense_Mutation_p.S501N	NM_001112736.1	NP_001106207.1	Q9UK61	F208A_HUMAN	family with sequence similarity 208, member A	501							poly(A) RNA binding (GO:0044822)			NS(1)|breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(11)|prostate(3)|skin(1)	32						AGTAACTATGCTTCTAGGTTC	0.308																																						ENST00000431842.2																			0				NS(1)|breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(11)|prostate(3)|skin(1)	32						c.(313-315)aGc>aAc		family with sequence similarity 208, member A							40	42	41					3																	56682861		2202	4297	6499	SO:0001583	missense	23272							g.chr3:56682861C>T	AF180425	CCDS2877.1, CCDS46853.1	3p14.3	2011-09-14	2011-09-14	2011-09-14	ENSG00000163946	ENSG00000163946			30314	protein-coding gene	gene with protein product			"chromosome 3 open reading frame 63"	C3orf63		10470851, 11149944	Standard	NM_015224		Approved	se89-1, RAP140, KIAA1105	uc003die.4	Q9UK61	OTTHUMG00000158827	ENST00000493960.2:c.1502G>A	3.37:g.56682861C>T	ENSP00000417509:p.Ser501Asn					FAM208A_ENST00000355628.5_Missense_Mutation_p.S501N|FAM208A_ENST00000493960.2_Missense_Mutation_p.S501N	p.S105N	NM_015224.3	NP_056039.2	Q9UK61	CC063_HUMAN			6	1238	-			501					A1L3A4|B5ME28|Q9H2F7|Q9UPP7	Missense_Mutation	SNP	ENST00000493960.2	37	c.314G>A	CCDS46853.1	.	.	.	.	.	.	.	.	.	.	C	12.74	2.028438	0.35797	.	.	ENSG00000163946	ENST00000431842;ENST00000493960;ENST00000355628	T;T;T	0.12569	2.67;2.85;2.85	5.92	3.11	0.35812	.	0.767063	0.12184	N	0.491801	T	0.10121	0.0248	L	0.34521	1.04	0.20873	N	0.99984	B;B;B	0.24426	0.103;0.0;0.002	B;B;B	0.22601	0.04;0.0;0.001	T	0.34625	-0.9821	10	0.34782	T	0.22	7.5452	5.6352	0.17532	0.1174:0.643:0.1134:0.1261	.	501;501;105	Q9UK61-3;Q9UK61-4;Q9UK61-2	.;.;.	N	105;501;501	ENSP00000399410:S105N;ENSP00000417509:S501N;ENSP00000347845:S501N	ENSP00000347845:S501N	S	-	2	0	C3orf63	56657901	0.954000	0.32549	0.178000	0.23040	0.976000	0.68499	2.626000	0.46460	0.384000	0.24942	0.650000	0.86243	AGC		0.308	FAM208A-004	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352352.2	NM_015224		4	32	0	0	0	1	0	4	32					T	56682861	C	T	56682861	3	4	94	1	0	0	0	0	1	0	0	0	2239	797	28	3	3618	3	C3orf63	3	56682861	Missense_Mutation	SNP	C	TCGA-EJ-7782-01A-11D-2114-08	1752013	56682861	141339569	98	4917											
CADPS	8618	broad.mit.edu	37	chr3	62499360	62499360	+	Intron	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaagcagaagacaggatgcTcatacatttctctctttttc	11	13	6	11	0	3	2	1	0	2	2	5	3	3	3	1	1	3	2	1	1	3	4			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr3:62499360T>C	ENST00000383710.4	-	17	2931				CADPS_ENST00000357948.3_Intron|CADPS_ENST00000283269.9_Missense_Mutation_p.E868G	NM_003716.3	NP_003707.2	Q9ULU8	CAPS1_HUMAN	Ca++-dependent secretion activator						catecholamine secretion (GO:0050432)|exocytosis (GO:0006887)|protein transport (GO:0015031)|synaptic vesicle priming (GO:0016082)|vesicle organization (GO:0016050)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|membrane (GO:0016020)|synapse (GO:0045202)	lipid binding (GO:0008289)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)			breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2)	92		Lung SC(41;0.0452)		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)		GACAGGATGCTCATACATTTC	0.433																																						ENST00000283269.9																			0				breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2)	92						c.(2602-2604)gAg>gGg		Ca++-dependent secretion activator							110	87	95					3																	62499360		2203	4300	6503	SO:0001627	intron_variant	8618				exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|cytosol|synapse	lipid binding|metal ion binding	g.chr3:62499360T>C	U36448	CCDS2898.1, CCDS2899.1, CCDS46858.1	3p21.1	2013-01-10	2008-08-28		ENSG00000163618	ENSG00000163618		"Pleckstrin homology (PH) domain containing"	1426	protein-coding gene	gene with protein product		604667				1516133	Standard	NM_183393		Approved	CAPS, KIAA1121, CAPS1	uc003dll.2	Q9ULU8	OTTHUMG00000158651	ENST00000383710.4:c.2582-917A>G	3.37:g.62499360T>C						CADPS_ENST00000357948.3_Intron|CADPS_ENST00000383710.4_Intron	p.E868G	NM_183394.2	NP_899631.1	Q9ULU8	CAPS1_HUMAN		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)	17	2814	-		Lung SC(41;0.0452)	865			Interaction with DRD2.		A6NF60|Q13339|Q6GQQ6|Q8N2Z5|Q8N3M7|Q8NFR0|Q96BC2	Missense_Mutation	SNP	ENST00000383710.4	37	c.2603A>G	CCDS46858.1	.	.	.	.	.	.	.	.	.	.	T	9.407	1.079417	0.20227	.	.	ENSG00000163618	ENST00000283269	T	0.47177	0.85	5.41	5.41	0.78517	.	.	.	.	.	T	0.65333	0.2681	.	.	.	0.80722	D	1	D	0.61080	0.989	D	0.72982	0.979	T	0.62029	-0.6940	8	0.25751	T	0.34	.	15.7421	0.77905	0.0:0.0:0.0:1.0	.	868	Q9ULU8-3	.	G	868	ENSP00000283269:E868G	ENSP00000283269:E868G	E	-	2	0	CADPS	62474400	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.997000	0.88414	2.188000	0.69820	0.533000	0.62120	GAG		0.433	CADPS-013	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351951.5	NM_003716, NM_183393, NM_183394		4	7	0	0	0	1	0	4	7					C	62499360	T	C	62499360	1	2	94	0	1	0	0	0	0	0	0	0	2570	1551	54	4		4	CADPS	3	62499360	Intron	SNP	T	TCGA-EJ-7782-01A-11D-2114-08	5816499	62499360	135523070	99	4918											
PDZRN3	23024	broad.mit.edu	37	chr3	73433999	73433999	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tacgggtgctctcgtcggtcCgccccacaccgctgtccttc	3	10	10	18	5	1	0	0	0	1	0	6	0	3	0	5	2	2	2	5	2	1	2			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr3:73433999C>T	ENST00000263666.4	-	10	1832	c.1718G>A	c.(1717-1719)cGg>cAg	p.R573Q	PDZRN3_ENST00000535920.1_Missense_Mutation_p.R295Q|PDZRN3_ENST00000462146.2_Missense_Mutation_p.R230Q|PDZRN3_ENST00000479530.1_Missense_Mutation_p.R290Q|PDZRN3_ENST00000466348.1_5'Flank|PDZRN3_ENST00000466780.1_Missense_Mutation_p.R230Q	NM_015009.1	NP_055824.1	Q9UPQ7	PZRN3_HUMAN	PDZ domain containing ring finger 3	573					neuromuscular junction development (GO:0007528)|protein ubiquitination (GO:0016567)	neuromuscular junction (GO:0031594)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)		CTCGTCGGTCCGCCCCACACC	0.597																																						ENST00000263666.4																			0				breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69						c.(1717-1719)cGg>cAg		PDZ domain containing ring finger 3							80	72	75					3																	73433999		2203	4300	6503	SO:0001583	missense	23024						ubiquitin-protein ligase activity|zinc ion binding	g.chr3:73433999C>T	AB029018	CCDS33789.1	3p14.1	2013-01-09	2008-08-14		ENSG00000121440	ENSG00000121440		"RING-type (C3HC4) zinc fingers"	17704	protein-coding gene	gene with protein product	"likely ortholog of mouse semaF cytoplasmic domain associated protein 3"	609729				10470851	Standard	XM_005264718		Approved	KIAA1095, SEMACAP3, LNX3	uc003dpl.1	Q9UPQ7	OTTHUMG00000158865	ENST00000263666.4:c.1718G>A	3.37:g.73433999C>T	ENSP00000263666:p.Arg573Gln					PDZRN3_ENST00000535920.1_Missense_Mutation_p.R295Q|PDZRN3_ENST00000479530.1_Missense_Mutation_p.R290Q|PDZRN3_ENST00000462146.2_Missense_Mutation_p.R230Q|PDZRN3_ENST00000466780.1_Missense_Mutation_p.R230Q	p.R573Q	NM_015009.1	NP_055824.1	Q9UPQ7	PZRN3_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)	10	1832	-		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)	573					A7MCZ6|Q8N2N7|Q96CC2|Q9NSQ2	Missense_Mutation	SNP	ENST00000263666.4	37	c.1718G>A	CCDS33789.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	25.3|25.3	4.624814|4.624814	0.87560|0.87560	.|.	.|.	ENSG00000121440|ENSG00000121440	ENST00000494559|ENST00000263666;ENST00000535920;ENST00000462146;ENST00000466780;ENST00000479530;ENST00000416926;ENST00000492909	.|T;T;T;T;T;T	.|0.14022	.|2.54;3.24;3.14;3.14;3.25;3.21	4.77|4.77	4.77|4.77	0.60923|0.60923	.|.	.|0.186649	.|0.47852	.|D	.|0.000218	T|T	0.39226|0.39226	0.1070|0.1070	M|M	0.79258|0.79258	2.445|2.445	0.80722|0.80722	D|D	1|1	.|D;D;D;D	.|0.89917	.|0.999;0.995;0.999;1.0	.|D;P;D;P	.|0.71656	.|0.974;0.539;0.942;0.85	T|T	0.25047|0.25047	-1.0143|-1.0143	5|10	.|0.52906	.|T	.|0.07	.|.	17.5919|17.5919	0.87999|0.87999	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|295;290;290;573	.|F5H8I9;B7ZAG0;B7Z5X9;Q9UPQ7	.|.;.;.;PZRN3_HUMAN	R|Q	170|573;295;230;230;290;573;271	.|ENSP00000263666:R573Q;ENSP00000442026:R295Q;ENSP00000418168:R230Q;ENSP00000418484:R230Q;ENSP00000418624:R290Q;ENSP00000419250:R271Q	.|ENSP00000263666:R573Q	G|R	-|-	1|2	0|0	PDZRN3|PDZRN3	73516689|73516689	1.000000|1.000000	0.71417|0.71417	0.863000|0.863000	0.33907|0.33907	0.969000|0.969000	0.65631|0.65631	7.468000|7.468000	0.80943|0.80943	2.464000|2.464000	0.83262|0.83262	0.655000|0.655000	0.94253|0.94253	GGA|CGG		0.597	PDZRN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352460.1	XM_041363		12	19	0	0	0	1	0	12	19					T	73433999	C	T	73433999	3	4	94	1	0	0	0	0	1	0	0	0	11709	652	23	2	1486	2	PDZRN3	3	73433999	Missense_Mutation	SNP	C	TCGA-EJ-7782-01A-11D-2114-08	10934639	73433999	124588431	100	4919											
SENP7	57337	broad.mit.edu	37	chr3	101060605	101060605	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gaaggtgtaagtaggcttggCcgcatctgtgtttgagggct	7	12	16	6	1	1	1	0	1	1	0	1	2	1	1	1	4	0	6	1	4	3	4	rs151073689		TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr3:101060605C>T	ENST00000394095.2	-	15	2178	c.2125G>A	c.(2125-2127)Gcc>Acc	p.A709T	SENP7_ENST00000394094.2_Missense_Mutation_p.A644T|SENP7_ENST00000314261.7_Missense_Mutation_p.A643T|SENP7_ENST00000348610.3_Missense_Mutation_p.A676T|SENP7_ENST00000394091.1_Missense_Mutation_p.A545T|SENP7_ENST00000358203.3_Missense_Mutation_p.A545T	NM_001282802.1|NM_020654.3	NP_001269731.1|NP_065705.3	Q9BQF6	SENP7_HUMAN	SUMO1/sentrin specific peptidase 7	709						intracellular (GO:0005622)|nucleus (GO:0005634)	cysteine-type peptidase activity (GO:0008234)			breast(2)|endometrium(1)|kidney(1)|large_intestine(16)|lung(15)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						GTAGGCTTGGCCGCATCTGTG	0.443													C|||	1	0.000199681	0	0	5008	,	,		17888	0.001		0	False		,,,				2504	0					ENST00000394095.2																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(16)|lung(15)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						c.(2125-2127)Gcc>Acc		SUMO1/sentrin specific peptidase 7							96	81	86					3																	101060605		2203	4300	6503	SO:0001583	missense	57337				proteolysis	nucleus	cysteine-type peptidase activity	g.chr3:101060605C>T		CCDS2941.2, CCDS43121.1, CCDS63704.1, CCDS63705.1, CCDS63706.1	3q12	2008-02-05	2005-08-17		ENSG00000138468	ENSG00000138468			30402	protein-coding gene	gene with protein product		612846	"SUMO1/sentrin specific protease 7"			11214970, 11230166	Standard	NM_001282802		Approved		uc003dut.3	Q9BQF6	OTTHUMG00000149927	ENST00000394095.2:c.2125G>A	3.37:g.101060605C>T	ENSP00000377655:p.Ala709Thr					SENP7_ENST00000358203.3_Missense_Mutation_p.A545T|SENP7_ENST00000348610.3_Missense_Mutation_p.A676T|SENP7_ENST00000394094.2_Missense_Mutation_p.A644T|SENP7_ENST00000314261.7_Missense_Mutation_p.A643T|SENP7_ENST00000394091.1_Missense_Mutation_p.A545T	p.A709T	NM_020654.3	NP_065705.3	Q9BQF6	SENP7_HUMAN			15	2178	-			709					A1L3A5|A8MW39|B7WNW8|Q7Z3F4|Q96PS5|Q9C0F6|Q9HBT5	Missense_Mutation	SNP	ENST00000394095.2	37	c.2125G>A	CCDS2941.2	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	8.262	0.811423	0.16537	.	.	ENSG00000138468	ENST00000394095;ENST00000394094;ENST00000314261;ENST00000394091;ENST00000358203;ENST00000348610	T;T;T;T;T;T	0.18810	2.2;2.21;2.2;2.21;2.21;2.19	5.76	-1.56	0.08532	.	0.728673	0.12241	N	0.486464	T	0.06325	0.0163	N	0.02539	-0.55	0.09310	N	1	B;B;B;B	0.16603	0.018;0.015;0.015;0.004	B;B;B;B	0.20955	0.015;0.015;0.032;0.007	T	0.38090	-0.9677	10	0.21540	T	0.41	1.5995	3.9055	0.09180	0.1041:0.4955:0.1024:0.298	.	545;643;676;709	Q9BQF6-4;Q9BQF6-5;Q9BQF6-2;Q9BQF6	.;.;.;SENP7_HUMAN	T	709;644;643;545;545;676	ENSP00000377655:A709T;ENSP00000377654:A644T;ENSP00000313624:A643T;ENSP00000377651:A545T;ENSP00000350936:A545T;ENSP00000342159:A676T	ENSP00000313624:A643T	A	-	1	0	SENP7	102543295	0.002000	0.14202	0.008000	0.14137	0.059000	0.15707	-0.201000	0.09464	-0.158000	0.11040	-0.218000	0.12543	GCC		0.443	SENP7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313957.2	NM_020654		7	38	0	0	0	1	0	7	38					T	101060605	C	T	101060605	3	4	94	1	0	0	0	0	1	0	0	0	14051	739	26	3	1067	3	SENP7	3	101060605	Missense_Mutation	SNP	C	TCGA-EJ-7782-01A-11D-2114-08	27626606	101060605	96961825	101	4920											
ALCAM	214	broad.mit.edu	37	chr3	105260577	105260577	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttccctgatagacaaaaaaaGcatgattgcttcaacagcta	16	10	6	9	0	1	3	1	2	0	1	2	3	2	3	1	0	4	3	1	0	6	5			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr3:105260577G>A	ENST00000306107.5	+	8	1459	c.959G>A	c.(958-960)aGc>aAc	p.S320N	ALCAM_ENST00000486979.2_Missense_Mutation_p.S269N|ALCAM_ENST00000481337.1_3'UTR|ALCAM_ENST00000389927.4_Intron|ALCAM_ENST00000472644.2_Missense_Mutation_p.S320N	NM_001627.3	NP_001618.2	Q13740	CD166_HUMAN	activated leukocyte cell adhesion molecule	320	Ig-like C2-type 1.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|motor neuron axon guidance (GO:0008045)|signal transduction (GO:0007165)	axon (GO:0030424)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)	receptor binding (GO:0005102)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	28						GACAAAAAAAGCATGATTGCT	0.428																																						ENST00000306107.5																			0				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	28						c.(958-960)aGc>aAc		activated leukocyte cell adhesion molecule							155	127	136					3																	105260577		2203	4300	6503	SO:0001583	missense	214				cell adhesion|signal transduction	integral to membrane	receptor binding	g.chr3:105260577G>A	AK054632	CCDS33810.1, CCDS58841.1	3q13.1	2013-01-29	2002-08-08		ENSG00000170017	ENSG00000170017		"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	400	protein-coding gene	gene with protein product		601662	"activated leucocyte cell adhesion molecule"			7760007	Standard	NM_001627		Approved	CD166, MEMD	uc003dvx.3	Q13740	OTTHUMG00000159192	ENST00000306107.5:c.959G>A	3.37:g.105260577G>A	ENSP00000305988:p.Ser320Asn					ALCAM_ENST00000389927.4_Intron|ALCAM_ENST00000472644.2_Missense_Mutation_p.S320N|ALCAM_ENST00000486979.2_Missense_Mutation_p.S269N|ALCAM_ENST00000481337.1_3'UTR	p.S320N	NM_001627.3	NP_001618.2	Q13740	CD166_HUMAN			8	1459	+			320			Ig-like C2-type 1.		B2RNS3|B4DTU0|O60892|Q1HGM8|Q1HGM9|Q6PEY4|Q6ZS95	Missense_Mutation	SNP	ENST00000306107.5	37	c.959G>A	CCDS33810.1	.	.	.	.	.	.	.	.	.	.	G	11.81	1.748371	0.30955	.	.	ENSG00000170017	ENST00000306107;ENST00000472644;ENST00000486979	T;T;T	0.11385	2.78;2.78;2.78	6.17	2.4	0.29515	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.463544	0.30547	N	0.009393	T	0.05593	0.0147	N	0.16656	0.425	0.80722	D	1	B;B	0.06786	0.001;0.001	B;B	0.09377	0.004;0.004	T	0.41484	-0.9506	10	0.24483	T	0.36	-5.5596	5.8367	0.18611	0.2728:0.1281:0.5991:0.0	.	320;320	B4DTU0;Q13740	.;CD166_HUMAN	N	320;320;269	ENSP00000305988:S320N;ENSP00000419236:S320N;ENSP00000418213:S269N	ENSP00000305988:S320N	S	+	2	0	ALCAM	106743267	0.998000	0.40836	0.953000	0.39169	0.999000	0.98932	1.055000	0.30467	0.169000	0.19679	0.655000	0.94253	AGC		0.428	ALCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353764.1	NM_001627		9	74	0	0	0	1	0	9	74					A	105260577	G	A	105260577	3	1	94	1	0	0	0	0	1	0	0	0	487	971	34	3	989	3	ALCAM	3	105260577	Missense_Mutation	SNP	G	TCGA-EJ-7782-01A-11D-2114-08	4199972	105260577	92761853	102	4921											
DZIP3	9666	broad.mit.edu	37	chr3	108363248	108363248	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctcctaacaaggagttacCgcaatccaaacagtttgact	13	10	6	12	1	0	1	0	1	0	0	3	2	3	2	4	1	3	3	4	1	5	3			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr3:108363248C>T	ENST00000361582.3	+	14	1609	c.1379C>T	c.(1378-1380)cCg>cTg	p.P460L	DZIP3_ENST00000463306.1_Missense_Mutation_p.P460L	NM_014648.3	NP_055463.1	Q86Y13	DZIP3_HUMAN	DAZ interacting zinc finger protein 3	460					protein polyubiquitination (GO:0000209)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|phosphatase binding (GO:0019902)|poly(A) RNA binding (GO:0044822)|polyubiquitin binding (GO:0031593)|RNA binding (GO:0003723)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(21)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	45						AAGGAGTTACCGCAATCCAAA	0.418																																						ENST00000361582.3																			0				breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(21)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	45						c.(1378-1380)cCg>cTg		DAZ interacting zinc finger protein 3							160	152	155					3																	108363248		2203	4300	6503	SO:0001583	missense	9666				protein polyubiquitination	cytoplasm	polyubiquitin binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr3:108363248C>T	AF279370	CCDS2952.1	3q13.13	2013-05-22	2013-05-22		ENSG00000198919	ENSG00000198919		"RING-type (C3HC4) zinc fingers", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	30938	protein-coding gene	gene with protein product	"human RNA-binding ubiquitin ligase of 138 kDa", "protein phosphatase 1, regulatory subunit 66"	608672	"DAZ interacting protein 3, zinc finger"			9734811, 12538761	Standard	NM_014648		Approved	hRUL138, PPP1R66	uc003dxd.3	Q86Y13	OTTHUMG00000159232	ENST00000361582.3:c.1379C>T	3.37:g.108363248C>T	ENSP00000355028:p.Pro460Leu					DZIP3_ENST00000463306.1_Missense_Mutation_p.P460L	p.P460L	NM_014648.3	NP_055463.1	Q86Y13	DZIP3_HUMAN			14	1609	+			460					B3KN01|O75162|Q6P3R9|Q6PH82|Q86Y14|Q86Y15|Q86Y16|Q8IWI0|Q96RS9	Missense_Mutation	SNP	ENST00000361582.3	37	c.1379C>T	CCDS2952.1	.	.	.	.	.	.	.	.	.	.	C	17.65	3.440947	0.63067	.	.	ENSG00000198919	ENST00000361582;ENST00000479138;ENST00000463306	T;T	0.30981	1.51;1.51	4.39	4.39	0.52855	.	0.000000	0.52532	D	0.000075	T	0.47097	0.1427	L	0.46157	1.445	0.48975	D	0.999736	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.997	T	0.41928	-0.9481	10	0.87932	D	0	-9.6746	12.7679	0.57403	0.0:1.0:0.0:0.0	.	460;460	C9J9M8;Q86Y13	.;DZIP3_HUMAN	L	460	ENSP00000355028:P460L;ENSP00000419981:P460L	ENSP00000355028:P460L	P	+	2	0	DZIP3	109845938	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	1.708000	0.37899	2.724000	0.93272	0.655000	0.94253	CCG		0.418	DZIP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353968.1	NM_014648		31	129	0	0	0	1	0	31	129					T	108363248	C	T	108363248	3	4	94	1	0	0	0	0	1	0	0	0	4865	652	23	2	1429	2	DZIP3	3	108363248	Missense_Mutation	SNP	C	TCGA-EJ-7782-01A-11D-2114-08	3102671	108363248	89659182	103	4922											
GOLGB1	2804	broad.mit.edu	37	chr3	121437312	121437312	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	acggcccaccaaggattcttCgtgttcctcaagcttccttt	7	13	7	14	2	2	0	1	0	1	0	5	1	4	1	4	2	1	2	4	2	2	5			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr3:121437312C>T	ENST00000340645.5	-	8	918	c.793G>A	c.(793-795)Gaa>Aaa	p.E265K	GOLGB1_ENST00000393667.3_Missense_Mutation_p.E270K	NM_001256487.1|NM_001256488.1|NM_004487.4	NP_001243416.1|NP_001243417.1|NP_004478.3	Q14789	GOGB1_HUMAN	golgin B1	265					Golgi organization (GO:0007030)	cis-Golgi network (GO:0005801)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		AAGGATTCTTCGTGTTCCTCA	0.433																																						ENST00000393667.3																			0				NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119						c.(808-810)Gaa>Aaa		golgin B1							113	108	110					3																	121437312		2203	4300	6503	SO:0001583	missense	2804				Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding	g.chr3:121437312C>T	X75304	CCDS3004.1, CCDS58847.1, CCDS74989.1	3q13	2010-02-12	2010-02-12	2007-07-27	ENSG00000173230	ENSG00000173230			4429	protein-coding gene	gene with protein product	"macrogolgin", "golgi integral membrane protein 1"	602500	"golgi autoantigen, golgin subfamily b, macrogolgin (with transmembrane signal), 1", "golgin B1, golgi integral membrane protein"			7691276, 15004235	Standard	NM_001256486		Approved	GCP, GCP372, giantin, GOLIM1	uc010hrc.4	Q14789	OTTHUMG00000159411	ENST00000340645.5:c.793G>A	3.37:g.121437312C>T	ENSP00000341848:p.Glu265Lys					GOLGB1_ENST00000340645.5_Missense_Mutation_p.E265K	p.E270K	NM_001256486.1	NP_001243415.1	Q14789	GOGB1_HUMAN		GBM - Glioblastoma multiforme(114;0.0989)	8	918	-			265					B2ZZ91|D3DN92|E7EP74|Q14398	Missense_Mutation	SNP	ENST00000340645.5	37	c.808G>A	CCDS3004.1	.	.	.	.	.	.	.	.	.	.	C	18.66	3.672423	0.67928	.	.	ENSG00000173230	ENST00000340645;ENST00000393667;ENST00000494517;ENST00000426235	T;T;T	0.38401	1.68;1.68;1.14	5.06	5.06	0.68205	.	0.000000	0.64402	D	0.000009	T	0.57475	0.2056	M	0.77103	2.36	0.34198	D	0.672854	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.80764	0.994;0.992;0.994;0.992;0.994	T	0.62115	-0.6922	10	0.17369	T	0.5	.	14.1153	0.65149	0.0:1.0:0.0:0.0	.	190;229;270;270;265	F1T0J2;E7EU81;E7EP74;B2ZZ91;Q14789	.;.;.;.;GOGB1_HUMAN	K	265;270;229;77	ENSP00000341848:E265K;ENSP00000377275:E270K;ENSP00000418231:E229K	ENSP00000341848:E265K	E	-	1	0	GOLGB1	122920002	0.998000	0.40836	0.998000	0.56505	0.966000	0.64601	4.544000	0.60691	2.774000	0.95407	0.655000	0.94253	GAA		0.433	GOLGB1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000355159.1	NM_004487		5	59	0	0	0	1	0	5	59					T	121437312	C	T	121437312	3	4	94	1	0	0	0	0	1	0	0	0	6565	893	31	2	9046	2	GOLGB1	3	121437312	Missense_Mutation	SNP	C	TCGA-EJ-7782-01A-11D-2114-08	13074064	121437312	76585118	104	4923											
SNX4	8723	broad.mit.edu	37	chr3	125170172	125170172	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttgcacatactgatctgcaTgactgcatagcttatgaggg	10	13	10	8	0	1	3	0	3	1	0	1	3	1	3	0	1	5	4	0	1	3	4			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr3:125170172T>C	ENST00000251775.4	-	13	1306	c.1282A>G	c.(1282-1284)Atg>Gtg	p.M428V	SNX4_ENST00000536067.1_Missense_Mutation_p.M283V	NM_003794.2	NP_003785.1	O95219	SNX4_HUMAN	sorting nexin 4	428					endocytic recycling (GO:0032456)|intracellular protein transport (GO:0006886)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|cytoplasmic dynein complex (GO:0005868)|early endosome membrane (GO:0031901)|membrane (GO:0016020)|protein complex (GO:0043234)	epidermal growth factor receptor binding (GO:0005154)|insulin receptor binding (GO:0005158)|leptin receptor binding (GO:1990460)|phosphatidylinositol binding (GO:0035091)|transferrin receptor binding (GO:1990459)			breast(2)|central_nervous_system(1)|lung(6)|ovary(1)|skin(1)	11						CTGATCTGCATGACTGCATAG	0.363																																						ENST00000251775.4																			0				breast(2)|central_nervous_system(1)|lung(6)|ovary(1)|skin(1)	11						c.(1282-1284)Atg>Gtg		sorting nexin 4							187	185	186					3																	125170172		2203	4300	6503	SO:0001583	missense	8723				cell communication|endocytic recycling|endocytosis|protein transport	cytoplasmic dynein complex|early endosome membrane	phosphatidylinositol binding|protein binding	g.chr3:125170172T>C	AF065485	CCDS3032.1	3q21.2	2014-02-12			ENSG00000114520	ENSG00000114520		"Sorting nexins"	11175	protein-coding gene	gene with protein product		605931				9819414	Standard	NM_003794		Approved	ATG24B	uc003eib.4	O95219	OTTHUMG00000159575	ENST00000251775.4:c.1282A>G	3.37:g.125170172T>C	ENSP00000251775:p.Met428Val					SNX4_ENST00000536067.1_Missense_Mutation_p.M283V	p.M428V	NM_003794.2	NP_003785.1	O95219	SNX4_HUMAN			13	1306	-			428					B3KMH0|B4DQV4|D3DNA3	Missense_Mutation	SNP	ENST00000251775.4	37	c.1282A>G	CCDS3032.1	.	.	.	.	.	.	.	.	.	.	T	15.08	2.726946	0.48833	.	.	ENSG00000114520	ENST00000251775;ENST00000536067	T;T	0.41758	0.99;2.05	5.0	5.0	0.66597	.	0.037575	0.85682	D	0.000000	T	0.38772	0.1053	L	0.56769	1.78	0.58432	D	0.999996	B	0.09022	0.002	B	0.06405	0.002	T	0.23368	-1.0190	10	0.14656	T	0.56	-19.4935	14.8662	0.70419	0.0:0.0:0.0:1.0	.	428	O95219	SNX4_HUMAN	V	428;283	ENSP00000251775:M428V;ENSP00000440824:M283V	ENSP00000251775:M428V	M	-	1	0	SNX4	126652862	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.150000	0.77403	2.095000	0.63458	0.477000	0.44152	ATG		0.363	SNX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356299.1	NM_003794		19	138	0	0	0	1	0	19	138					C	125170172	T	C	125170172	3	2	94	1	0	0	0	0	1	0	0	0	14904	1464	51	4	78	4	SNX4	3	125170172	Missense_Mutation	SNP	T	TCGA-EJ-7782-01A-11D-2114-08	3732860	125170172	72852258	105	4924											
GP9	2815	broad.mit.edu	37	chr3	128780917	128780917	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgaggccctgctgcaggtccGctgtgccagccccagcctcg	4	6	13	18	3	0	0	0	0	0	0	2	1	1	0	6	2	5	3	6	2	0	0			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr3:128780917G>A	ENST00000307395.4	+	3	557	c.335G>A	c.(334-336)cGc>cAc	p.R112H		NM_000174.3	NP_000165.1	P14770	GPIX_HUMAN	glycoprotein IX (platelet)	112	LRRCT.				blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				NS(1)|central_nervous_system(1)|lung(4)	6					Quinine(DB00468)	CTGCAGGTCCGCTGTGCCAGC	0.706																																						ENST00000307395.4																			0				NS(1)|central_nervous_system(1)|lung(4)	6						c.(334-336)cGc>cAc		glycoprotein IX (platelet)	Quinine(DB00468)						12	13	12					3																	128780917		2190	4276	6466	SO:0001583	missense	2815				blood coagulation, intrinsic pathway|cell adhesion|platelet activation	integral to plasma membrane	protein binding	g.chr3:128780917G>A		CCDS3055.1	3q21.3	2014-09-17				ENSG00000169704		"CD molecules"	4444	protein-coding gene	gene with protein product		173515				2253772	Standard	XM_005247374		Approved	CD42a, GPIX	uc003elm.2	P14770		ENST00000307395.4:c.335G>A	3.37:g.128780917G>A	ENSP00000303942:p.Arg112His						p.R112H	NM_000174.3	NP_000165.1	P14770	GPIX_HUMAN			3	557	+			112			LRRCT.		Q14445|Q8N1D1|Q92525	Missense_Mutation	SNP	ENST00000307395.4	37	c.335G>A	CCDS3055.1	.	.	.	.	.	.	.	.	.	.	G	8.900	0.956218	0.18507	.	.	ENSG00000169704	ENST00000307395	D	0.90133	-2.62	4.17	-4.43	0.03568	Cysteine-rich flanking region, C-terminal (1);	0.614078	0.13039	N	0.418665	D	0.85248	0.5653	M	0.82823	2.61	0.09310	N	1	B	0.28439	0.212	B	0.17433	0.018	T	0.72418	-0.4300	10	0.41790	T	0.15	-5.6374	1.0797	0.01640	0.4468:0.1227:0.1829:0.2476	.	112	P14770	GPIX_HUMAN	H	112	ENSP00000303942:R112H	ENSP00000303942:R112H	R	+	2	0	GP9	130263607	0.000000	0.05858	0.002000	0.10522	0.109000	0.19521	-1.039000	0.03550	-0.948000	0.03668	0.462000	0.41574	CGC		0.706	GP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358428.1			3	13	0	0	0	1	0	3	13					A	128780917	G	A	128780917	3	1	94	1	0	0	0	0	1	0	0	0	6585	1087	38	1	337	1	GP9	3	128780917	Missense_Mutation	SNP	G	TCGA-EJ-7782-01A-11D-2114-08	3610745	128780917	69241513	106	4925											
COL6A6	131873	broad.mit.edu	37	chr3	130286065	130286065	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgactttgatgcattgaaagAcataagaaaccaagttgttc	15	12	8	6	0	0	5	0	3	0	2	1	5	0	5	1	0	2	3	1	0	4	5			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr3:130286065A>T	ENST00000358511.6	+	4	1833	c.1802A>T	c.(1801-1803)gAc>gTc	p.D601V	COL6A6_ENST00000453409.2_Missense_Mutation_p.D601V	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	601	Nonhelical region.|VWFA 3. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						GCATTGAAAGACATAAGAAAC	0.418																																						ENST00000358511.6																			0				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						c.(1801-1803)gAc>gTc		collagen, type VI, alpha 6							48	48	48					3																	130286065		1931	4117	6048	SO:0001583	missense	131873				axon guidance|cell adhesion	collagen		g.chr3:130286065A>T	AL713792	CCDS46911.1	3q22.1	2013-01-16			ENSG00000206384	ENSG00000206384		"Collagens"	27023	protein-coding gene	gene with protein product							Standard	NM_001102608		Approved		uc010htl.3	A6NMZ7	OTTHUMG00000159653	ENST00000358511.6:c.1802A>T	3.37:g.130286065A>T	ENSP00000351310:p.Asp601Val					COL6A6_ENST00000453409.2_Missense_Mutation_p.D601V	p.D601V	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN			4	1833	+			601			Nonhelical region.|VWFA 3.		A7DZQ0|A7DZQ1|A7DZQ2|Q69YT0	Missense_Mutation	SNP	ENST00000358511.6	37	c.1802A>T	CCDS46911.1	.	.	.	.	.	.	.	.	.	.	A	13.71	2.318571	0.40996	.	.	ENSG00000206384	ENST00000358511;ENST00000453409	D;D	0.84146	-1.81;-1.81	5.51	4.35	0.52113	von Willebrand factor, type A (3);	0.287666	0.29948	N	0.010791	T	0.76737	0.4029	L	0.45581	1.43	0.44927	D	0.997942	B	0.19445	0.036	B	0.18871	0.023	T	0.69595	-0.5103	10	0.41790	T	0.15	.	3.1052	0.06339	0.6388:0.1451:0.0765:0.1396	.	601	A6NMZ7	CO6A6_HUMAN	V	601	ENSP00000351310:D601V;ENSP00000399236:D601V	ENSP00000351310:D601V	D	+	2	0	COL6A6	131768755	0.841000	0.29509	1.000000	0.80357	0.953000	0.61014	1.284000	0.33249	0.939000	0.37446	0.459000	0.35465	GAC		0.418	COL6A6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356705.5	NM_001102608		12	36	0	0	0	1	0	12	36					T	130286065	A	T	130286065	3	4	94	1	0	0	0	0	1	0	0	0	3703	275	10	5	1816	5	COL6A6	3	130286065	Missense_Mutation	SNP	A	TCGA-EJ-7782-01A-11D-2114-08	1505148	130286065	67736365	107	4926											
CP	1356	broad.mit.edu	37	chr3	148924002	148924002	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtgaagatgtctataccagaGggagcatagttccagatgat	13	10	12	6	0	1	5	0	2	1	3	2	6	2	6	2	1	2	2	2	1	4	4			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr3:148924002G>T	ENST00000264613.6	-	6	1423	c.1161C>A	c.(1159-1161)ccC>ccA	p.P387P		NM_000096.3	NP_000087	P00450	CERU_HUMAN	ceruloplasmin (ferroxidase)	387	F5/8 type A 2.|Plastocyanin-like 3.				cellular iron ion homeostasis (GO:0006879)|copper ion transport (GO:0006825)|transmembrane transport (GO:0055085)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)	chaperone binding (GO:0051087)|copper ion binding (GO:0005507)|ferroxidase activity (GO:0004322)	p.P387P(1)		breast(6)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		Prostate(884;0.00217)|Hepatocellular(537;0.00826)|Myeloproliferative disorder(1037;0.0122)|all_neural(597;0.0189)|Melanoma(1037;0.152)	LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)		Drotrecogin alfa(DB00055)	CTATACCAGAGGGAGCATAGT	0.403																																						ENST00000264613.6																			1	Substitution - coding silent(1)	p.P387P(1)	lung(1)	breast(6)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						c.(1159-1161)ccC>ccA		ceruloplasmin (ferroxidase)	Drotrecogin alfa(DB00055)						131	130	130					3																	148924002		2203	4300	6503	SO:0001819	synonymous_variant	1356				cellular iron ion homeostasis|copper ion transport|transmembrane transport	extracellular space	chaperone binding|ferroxidase activity	g.chr3:148924002G>T	M13536	CCDS3141.1	3q23-q25	2010-07-01			ENSG00000047457	ENSG00000047457	1.16.3.1		2295	protein-coding gene	gene with protein product		117700					Standard	NM_000096		Approved		uc003ewy.4	P00450	OTTHUMG00000159563	ENST00000264613.6:c.1161C>A	3.37:g.148924002G>T							p.P387P	NM_000096.3	NP_000087.1	P00450	CERU_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)		6	1423	-		Prostate(884;0.00217)|Hepatocellular(537;0.00826)|Myeloproliferative disorder(1037;0.0122)|all_neural(597;0.0189)|Melanoma(1037;0.152)	387			F5/8 type A 2.|Plastocyanin-like 3.		Q14063|Q2PP18|Q9UKS4	Silent	SNP	ENST00000264613.6	37	c.1161C>A	CCDS3141.1																																																																																				0.403	CP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317498.1	NM_000096		27	67	1	0	3.28513e-13	1	3.51831e-13	27	67					T	148924002	G	T	148924002	2	4	94	1	0	0	0	0	0	0	0	1	3787	987	35	5		5	CP	3	148924002	Silent	SNP	G	TCGA-EJ-7782-01A-11D-2114-08	18637937	148924002	49098428	108	4927											
PFN2	5217	broad.mit.edu	37	chr3	149684332	149684332	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtatgccttcttattcaatcCgcctccatggaccccttctt	6	15	5	15	1	3	0	1	0	2	0	5	1	5	1	6	1	1	1	6	1	3	6			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr3:149684332C>T	ENST00000239940.7	-	3	619	c.367G>A	c.(367-369)Gga>Aga	p.G123R	PFN2_ENST00000489155.1_Missense_Mutation_p.G74R|PFN2_ENST00000481767.1_Intron|PFN2_ENST00000490975.1_Missense_Mutation_p.G108R|PFN2_ENST00000423691.2_Intron|PFN2_ENST00000494827.1_Intron|PFN2_ENST00000497148.1_Missense_Mutation_p.G74R|PFN2_ENST00000475518.1_Missense_Mutation_p.G74R|PFN2_ENST00000498307.1_Missense_Mutation_p.G74R|PFN2_ENST00000452853.2_Intron|PFN2_ENST00000481275.1_Missense_Mutation_p.G74R			P35080	PROF2_HUMAN	profilin 2	123					actin cytoskeleton organization (GO:0030036)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of ruffle assembly (GO:1900028)|positive regulation of actin filament bundle assembly (GO:0032233)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of ATPase activity (GO:0032781)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|regulation of synaptic vesicle exocytosis (GO:2000300)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|terminal bouton (GO:0043195)	actin monomer binding (GO:0003785)|adenyl-nucleotide exchange factor activity (GO:0000774)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)	p.G123R(1)		large_intestine(1)|lung(4)|ovary(1)|prostate(1)	7			LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)			TTATTCAATCCGCCTCCATGG	0.388																																						ENST00000239940.7																			1	Substitution - Missense(1)	p.G123R(1)	lung(1)	large_intestine(1)|lung(4)|ovary(1)|prostate(1)	7						c.(367-369)Gga>Aga		profilin 2							315	328	323					3																	149684332		2203	4300	6503	SO:0001583	missense	5217				actin cytoskeleton organization|regulation of actin polymerization or depolymerization	actin cytoskeleton|cytoplasm	actin binding|phosphatidylinositol-4,5-bisphosphate binding	g.chr3:149684332C>T	L10678	CCDS3148.1, CCDS46934.1	3q25.1	2006-10-16			ENSG00000070087	ENSG00000070087			8882	protein-coding gene	gene with protein product		176590				8975700, 8365484	Standard	NM_002628		Approved		uc003ext.1	P35080	OTTHUMG00000159683	ENST00000239940.7:c.367G>A	3.37:g.149684332C>T	ENSP00000239940:p.Gly123Arg					PFN2_ENST00000452853.2_Intron|PFN2_ENST00000423691.2_Intron|PFN2_ENST00000498307.1_Missense_Mutation_p.G74R|PFN2_ENST00000497148.1_Missense_Mutation_p.G74R|PFN2_ENST00000494827.1_Intron|PFN2_ENST00000490975.1_Missense_Mutation_p.G108R|PFN2_ENST00000489155.1_Missense_Mutation_p.G74R|PFN2_ENST00000481767.1_Intron|PFN2_ENST00000481275.1_Missense_Mutation_p.G74R|PFN2_ENST00000475518.1_Missense_Mutation_p.G74R	p.G123R			P35080	PROF2_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)		3	619	-			123					B2R4C8|D3DNI4|Q4VBQ4|Q8WVF9|Q9HBK2	Missense_Mutation	SNP	ENST00000239940.7	37	c.367G>A	CCDS3148.1	.	.	.	.	.	.	.	.	.	.	.	9.449	1.090009	0.20390	.	.	ENSG00000070087	ENST00000239940;ENST00000490975;ENST00000497148;ENST00000475518;ENST00000481275;ENST00000498307;ENST00000489155	D;D;D;D;D;D;D	0.85339	-1.97;-1.97;-1.97;-1.97;-1.97;-1.97;-1.97	5.61	5.61	0.85477	.	0.456141	0.26213	N	0.025662	T	0.77545	0.4146	N	0.22421	0.69	0.80722	D	1	B	0.22276	0.067	B	0.11329	0.006	T	0.70821	-0.4768	10	0.18276	T	0.48	.	20.0018	0.97417	0.0:1.0:0.0:0.0	.	123	P35080	PROF2_HUMAN	R	123;108;74;74;74;74;74	ENSP00000239940:G123R;ENSP00000417351:G108R;ENSP00000417817:G74R;ENSP00000418142:G74R;ENSP00000418216:G74R;ENSP00000420202:G74R;ENSP00000420504:G74R	ENSP00000239940:G123R	G	-	1	0	PFN2	151167022	1.000000	0.71417	1.000000	0.80357	1.000000	0.99986	7.445000	0.80570	2.793000	0.96121	0.655000	0.94253	GGA		0.388	PFN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356873.2	NM_002628		30	377	0	0	0	1	0	30	377					T	149684332	C	T	149684332	3	4	94	1	0	0	0	0	1	0	0	0	11768	661	23	2	161	2	PFN2	3	149684332	Missense_Mutation	SNP	C	TCGA-EJ-7782-01A-11D-2114-08	760330	149684332	48338098	109	4928											
TIPARP	25976	broad.mit.edu	37	chr3	156411927	156411927	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaactctatttaccacacaGtctggaaattcttctgtagg	11	14	6	10	0	5	0	1	0	4	0	5	1	5	1	1	2	2	1	1	2	5	6	rs200119519		TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr3:156411927G>A	ENST00000461166.1	+	3	1624	c.1036G>A	c.(1036-1038)Gtc>Atc	p.V346I	TIPARP_ENST00000542783.1_Missense_Mutation_p.V346I|TIPARP_ENST00000486483.1_Missense_Mutation_p.V346I|TIPARP_ENST00000295924.7_Missense_Mutation_p.V346I	NM_001184717.1	NP_001171646.1	Q7Z3E1	PARPT_HUMAN	TCDD-inducible poly(ADP-ribose) polymerase	346	WWE. {ECO:0000255|PROSITE- ProRule:PRU00248}.				androgen metabolic process (GO:0008209)|cellular response to organic cyclic compound (GO:0071407)|estrogen metabolic process (GO:0008210)|face morphogenesis (GO:0060325)|female gonad development (GO:0008585)|hemopoiesis (GO:0030097)|kidney development (GO:0001822)|multicellular organismal metabolic process (GO:0044236)|negative regulation of gene expression (GO:0010629)|nitrogen compound metabolic process (GO:0006807)|palate development (GO:0060021)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of protein catabolic process (GO:0045732)|post-embryonic development (GO:0009791)|protein ADP-ribosylation (GO:0006471)|skeletal system morphogenesis (GO:0048705)|smooth muscle tissue development (GO:0048745)|vasculogenesis (GO:0001570)	nucleus (GO:0005634)	enhancer binding (GO:0035326)|metal ion binding (GO:0046872)|NAD+ ADP-ribosyltransferase activity (GO:0003950)			NS(1)|breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	23			LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)			TTACCACACAGTCTGGAAATT	0.383																																					Ovarian(171;276 1987 3319 6837 11197)	ENST00000461166.1																			0				NS(1)|breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	23						c.(1036-1038)Gtc>Atc		TCDD-inducible poly(ADP-ribose) polymerase							155	153	153					3																	156411927		2203	4300	6503	SO:0001583	missense	25976						NAD+ ADP-ribosyltransferase activity|nucleic acid binding|protein binding|zinc ion binding	g.chr3:156411927G>A	BX537965	CCDS3177.1	3q25.31	2011-06-22			ENSG00000163659	ENSG00000163659		"Poly (ADP-ribose) polymerases"	23696	protein-coding gene	gene with protein product		612480				12851707	Standard	NM_001184717		Approved	DKFZP434J214, DKFZp686N0351, DDF1, PARP7, PARP-7, PARP-1, pART14, RM1	uc021xgg.1	Q7Z3E1	OTTHUMG00000158646	ENST00000461166.1:c.1036G>A	3.37:g.156411927G>A	ENSP00000420612:p.Val346Ile					TIPARP_ENST00000542783.1_Missense_Mutation_p.V346I|TIPARP_ENST00000486483.1_Missense_Mutation_p.V346I|TIPARP_ENST00000295924.7_Missense_Mutation_p.V346I	p.V346I	NM_001184717.1	NP_001171646.1	Q7Z3E1	PARPT_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)		3	1624	+			346			WWE.		D3DNK6|Q68CY9|Q86VP4|Q9Y4P7	Missense_Mutation	SNP	ENST00000461166.1	37	c.1036G>A	CCDS3177.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.19|13.19	2.162881|2.162881	0.38217|0.38217	.|.	.|.	ENSG00000163659|ENSG00000163659	ENST00000495891|ENST00000486483;ENST00000295924;ENST00000461166;ENST00000473702;ENST00000481853;ENST00000542783	.|T;T;T;T;T;T	.|0.33654	.|1.4;1.4;1.4;1.4;1.4;1.4	5.14|5.14	3.15|3.15	0.36227|0.36227	.|WWE domain (1);	.|0.197939	.|0.42682	.|D	.|0.000675	T|T	0.28566|0.28566	0.0707|0.0707	L|L	0.51422|0.51422	1.61|1.61	0.36072|0.36072	D|D	0.842206|0.842206	.|B	.|0.02656	.|0.0	.|B	.|0.04013	.|0.001	T|T	0.16748|0.16748	-1.0392|-1.0392	5|10	.|0.35671	.|T	.|0.21	.|.	6.5637|6.5637	0.22501|0.22501	0.1538:0.0:0.6637:0.1825|0.1538:0.0:0.6637:0.1825	.|.	.|346	.|Q7Z3E1	.|PARPT_HUMAN	N|I	48|346	.|ENSP00000418757:V346I;ENSP00000295924:V346I;ENSP00000420612:V346I;ENSP00000419982:V346I;ENSP00000418829:V346I;ENSP00000438345:V346I	.|ENSP00000295924:V346I	S|V	+|+	2|1	0|0	TIPARP|TIPARP	157894621|157894621	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.973000|0.973000	0.67179|0.67179	2.982000|2.982000	0.49337|0.49337	0.513000|0.513000	0.28278|0.28278	-0.136000|-0.136000	0.14681|0.14681	AGT|GTC		0.383	TIPARP-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351618.1	NM_015508		24	46	0	0	0	1	0	24	46					A	156411927	G	A	156411927	3	1	94	1	0	0	0	0	1	0	0	0	15921	1029	36	3	1042	3	TIPARP	3	156411927	Missense_Mutation	SNP	G	TCGA-EJ-7782-01A-11D-2114-08	6727595	156411927	41610503	110	4929											
IL12A	3592	broad.mit.edu	37	chr3	159711354	159711354	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tctgattattttttcctctaGaatgggagttgcctggcctc	6	17	9	9	0	2	2	0	1	2	1	4	3	3	3	3	2	1	1	3	2	3	6			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr3:159711354G>A	ENST00000305579.2	+	5	727		c.e5-1		IL12A_ENST00000466512.1_Splice_Site|IL12A-AS1_ENST00000497452.1_RNA|IL12A_ENST00000480787.1_Splice_Site	NM_000882.3	NP_000873.2	P29459	IL12A_HUMAN	interleukin 12A						cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|defense response to Gram-positive bacterium (GO:0050830)|defense response to protozoan (GO:0042832)|extrinsic apoptotic signaling pathway (GO:0097191)|immune response (GO:0006955)|negative regulation of interleukin-17 production (GO:0032700)|negative regulation of smooth muscle cell proliferation (GO:0048662)|positive regulation of cell adhesion (GO:0045785)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of lymphocyte proliferation (GO:0050671)|positive regulation of mononuclear cell proliferation (GO:0032946)|positive regulation of natural killer cell activation (GO:0032816)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target (GO:0002860)|positive regulation of NK T cell activation (GO:0051135)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|positive regulation of T cell differentiation (GO:0045582)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of tyrosine phosphorylation of Stat4 protein (GO:0042520)|response to lipopolysaccharide (GO:0032496)|response to UV-B (GO:0010224)|response to virus (GO:0009615)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|interleukin-12 complex (GO:0043514)	interleukin-12 beta subunit binding (GO:0042163)|interleukin-12 receptor binding (GO:0005143)|interleukin-27 binding (GO:0045513)|protein heterodimerization activity (GO:0046982)			endometrium(3)|kidney(1)|large_intestine(1)|lung(4)	9			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			TTTTCCTCTAGAATGGGAGTT	0.388																																						ENST00000305579.2																			0				endometrium(3)|kidney(1)|large_intestine(1)|lung(4)	9						c.e5-1		interleukin 12A (natural killer cell stimulatory factor 1, cytotoxic lymphocyte maturation factor 1, p35)							121	118	119					3																	159711354		2203	4300	6503	SO:0001630	splice_region_variant	3592				cell cycle arrest|cell migration|defense response to Gram-positive bacterium|immune response|negative regulation of interleukin-17 production|negative regulation of smooth muscle cell proliferation|positive regulation of cell adhesion|positive regulation of interferon-gamma production|positive regulation of natural killer cell activation|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target|positive regulation of NK T cell activation|positive regulation of smooth muscle cell apoptosis|positive regulation of T cell mediated cytotoxicity|positive regulation of tyrosine phosphorylation of Stat4 protein|response to lipopolysaccharide|response to UV-B|response to virus	interleukin-12 complex	cytokine activity|growth factor activity|interleukin-12 receptor binding|interleukin-27 binding|protein heterodimerization activity	g.chr3:159711354G>A	M65271	CCDS3187.1	3q25.33	2014-04-04	2014-04-04		ENSG00000168811	ENSG00000168811		"Interleukins and interleukin receptors"	5969	protein-coding gene	gene with protein product	"natural killer cell stimulatory factor 1, 35 kD subunit", "cytotoxic lymphocyte maturation factor 1, p35", "interleukin 12, p35", "IL-12, subunit p35", "NF cell stimulatory factor chain 1", "interleukin-12 alpha chain", "IL35 subunit"	161560	"interleukin 12A (natural killer cell stimulatory factor 1, cytotoxic lymphocyte maturation factor 1, p35)"	NKSF1		1673147	Standard	NM_000882		Approved	CLMF, IL-12A, p35, NFSK	uc003fcx.3	P29459	OTTHUMG00000158942	ENST00000305579.2:c.421-1G>A	3.37:g.159711354G>A						IL12A_ENST00000480787.1_Splice_Site|IL12A_ENST00000466512.1_Splice_Site|CTD-2049J23.2_ENST00000497452.1_RNA		NM_000882.3	NP_000873.2	P29459	IL12A_HUMAN	Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)		5	727	+								Q96QZ1	Splice_Site	SNP	ENST00000305579.2	37		CCDS3187.1	.	.	.	.	.	.	.	.	.	.	G	11.79	1.743701	0.30865	.	.	ENSG00000168811	ENST00000305579;ENST00000480787;ENST00000466512	.	.	.	5.19	5.19	0.71726	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.2128	0.65776	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	IL12A	161194048	1.000000	0.71417	0.736000	0.30914	0.272000	0.26649	3.614000	0.54160	2.430000	0.82344	0.650000	0.86243	.		0.388	IL12A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352602.2	NM_000882	Intron	8	84	0	0	0	1	0	8	84					A	159711354	G	A	159711354	5	1	94	1	0	0	0	0	0	0	1	0	7624	956	33	3	438	3	IL12A	3	159711354	Splice_Site	SNP	G	TCGA-EJ-7782-01A-11D-2114-08	3299427	159711354	38311076	111	4930											
NAALADL2	254827	broad.mit.edu	37	chr3	175520891	175520891	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcatcaaatgagacccttcAagaagccctgtcagaggtgt	12	9	10	10	0	3	3	3	1	0	3	3	4	3	3	2	1	2	1	2	1	3	1			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr3:175520891A>G	ENST00000454872.1	+	14	2416	c.2288A>G	c.(2287-2289)cAa>cGa	p.Q763R		NM_207015.2	NP_996898.2	Q58DX5	NADL2_HUMAN	N-acetylated alpha-linked acidic dipeptidase-like 2	763						integral component of membrane (GO:0016021)				central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(20)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	49	Ovarian(172;0.0102)	all_cancers(1;0.0272)|all_epithelial(1;0.0553)	OV - Ovarian serous cystadenocarcinoma(80;9.26e-28)	Colorectal(1;1.66e-10)|COAD - Colon adenocarcinoma(1;2.1e-07)|STAD - Stomach adenocarcinoma(1;0.00261)|READ - Rectum adenocarcinoma(3;0.0284)		GAGACCCTTCAAGAAGCCCTG	0.433																																						ENST00000454872.1																			0				central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(20)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	49						c.(2287-2289)cAa>cGa		N-acetylated alpha-linked acidic dipeptidase-like 2							93	86	88					3																	175520891		1836	4094	5930	SO:0001583	missense	254827				proteolysis	integral to membrane	peptidase activity	g.chr3:175520891A>G		CCDS46960.1	3q26.3	2011-08-16			ENSG00000177694	ENSG00000177694			23219	protein-coding gene	gene with protein product	"glutamate carboxypeptidase II-type non-peptidase homologue"	608806				15168106	Standard	NM_207015		Approved		uc003fir.3	Q58DX5	OTTHUMG00000157120	ENST00000454872.1:c.2288A>G	3.37:g.175520891A>G	ENSP00000404705:p.Gln763Arg						p.Q763R	NM_207015.2	NP_996898.2	Q58DX5	NADL2_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;9.26e-28)	Colorectal(1;1.66e-10)|COAD - Colon adenocarcinoma(1;2.1e-07)|STAD - Stomach adenocarcinoma(1;0.00261)|READ - Rectum adenocarcinoma(3;0.0284)	14	2416	+	Ovarian(172;0.0102)	all_cancers(1;0.0272)|all_epithelial(1;0.0553)	763					Q658X9|Q6H9J8|Q6H9J9|Q6PG38	Missense_Mutation	SNP	ENST00000454872.1	37	c.2288A>G	CCDS46960.1	.	.	.	.	.	.	.	.	.	.	A	11.49	1.653577	0.29425	.	.	ENSG00000177694	ENST00000454872	T	0.32272	1.46	5.67	4.52	0.55395	Transferrin receptor-like, dimerisation domain (2);	0.302494	0.28718	N	0.014379	T	0.19248	0.0462	L	0.27053	0.805	0.25197	N	0.990088	B	0.14012	0.009	B	0.12837	0.008	T	0.16335	-1.0406	10	0.30854	T	0.27	-15.3506	6.6592	0.23004	0.7919:0.0:0.072:0.1361	.	763	Q58DX5	NADL2_HUMAN	R	763	ENSP00000404705:Q763R	ENSP00000404705:Q763R	Q	+	2	0	NAALADL2	177003585	1.000000	0.71417	0.987000	0.45799	0.219000	0.24729	3.487000	0.53222	0.973000	0.38340	0.467000	0.42956	CAA		0.433	NAALADL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347390.2	NM_207015		5	36	0	0	0	1	0	5	36					G	175520891	A	G	175520891	3	3	94	1	0	0	0	0	1	0	0	0	10130	130	5	4	2342	4	NAALADL2	3	175520891	Missense_Mutation	SNP	A	TCGA-EJ-7782-01A-11D-2114-08	15809537	175520891	22501539	112	4931											
PIK3CA	5290	broad.mit.edu	37	chr3	178952026	178952026	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tacattcgaaagaccctagcCttagataaaactgagcaaga	17	8	7	9	1	0	4	0	1	0	3	1	5	0	4	2	0	4	1	2	0	7	5			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr3:178952026C>A	ENST00000263967.3	+	21	3238	c.3081C>A	c.(3079-3081)gcC>gcA	p.A1027A	RP11-245C23.3_ENST00000609807.1_RNA	NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	1027	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.				angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.A1027V(2)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	AGACCCTAGCCTTAGATAAAA	0.388		57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	ENST00000263967.3		57		Dom	yes		3	3q26.3	5290	Mis	"phosphoinositide-3-kinase, catalytic, alpha polypeptide"			"E, O"			"colorectal, gastric, gliobastoma, breast"		2	Substitution - Missense(2)	p.A1027V(2)	skin(2)	NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269						c.(3079-3081)gcC>gcA		phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha							94	84	87					3																	178952026		1876	4114	5990	SO:0001819	synonymous_variant	5290				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	g.chr3:178952026C>A		CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"phosphoinositide-3-kinase, catalytic, alpha polypeptide"			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.3081C>A	3.37:g.178952026C>A		HNSCC(19;0.045)|TSP Lung(28;0.18)					p.A1027A	NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		21	3238	+	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		1027			PI3K/PI4K.		Q14CW1|Q99762	Silent	SNP	ENST00000263967.3	37	c.3081C>A	CCDS43171.1																																																																																				0.388	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2			14	75	1	0	0.000151284	1	0.000154908	14	75					A	178952026	C	A	178952026	2	1	94	1	0	0	0	0	0	0	0	1	11913	668	24	5		5	PIK3CA	3	178952026	Silent	SNP	C	TCGA-EJ-7782-01A-11D-2114-08	3431135	178952026	19070404	113	4932											
ABCC5	10057	broad.mit.edu	37	chr3	183667646	183667646	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actgcgtgatattgtccagaCgcttcagctcccgaatcagg	9	10	10	12	3	2	2	2	1	0	1	4	3	4	2	2	1	2	2	2	1	2	3	rs376038853		TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr3:183667646C>T	ENST00000334444.6	-	22	3362	c.3122G>A	c.(3121-3123)cGt>cAt	p.R1041H	ABCC5_ENST00000265586.6_Intron	NM_005688.2	NP_005679.2	O15440	MRP5_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 5	1041	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.				carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan biosynthetic process (GO:0030213)|hyaluronan metabolic process (GO:0030212)|organic anion transport (GO:0015711)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)		Adefovir Dipivoxil(DB00718)|Alprostadil(DB00770)|Atorvastatin(DB01076)|Cisplatin(DB00515)|Dinoprostone(DB00917)|Dipyridamole(DB00975)|Fluorouracil(DB00544)|Glutathione(DB00143)|Mercaptopurine(DB01033)|Probenecid(DB01032)|Rifampicin(DB01045)|Sildenafil(DB00203)|Sulfinpyrazone(DB01138)|Zidovudine(DB00495)	ATTGTCCAGACGCTTCAGCTC	0.562																																						ENST00000334444.6																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						c.(3121-3123)cGt>cAt		ATP-binding cassette, sub-family C (CFTR/MRP), member 5		C	HIS/ARG	1,4213		0,1,2106	121	130	127		3122	4.9	1	3		127	1,8447		0,1,4223	no	missense	ABCC5	NM_005688.2	29	0,2,6329	TT,TC,CC		0.0118,0.0237,0.0158	probably-damaging	1041/1438	183667646	2,12660	2107	4224	6331	SO:0001583	missense	10057					integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity	g.chr3:183667646C>T	AF104942	CCDS33898.1, CCDS43176.1	3q27	2012-03-14			ENSG00000114770	ENSG00000114770		"ATP binding cassette transporters / subfamily C"	56	protein-coding gene	gene with protein product		605251				8894702, 9827529	Standard	XM_005247058		Approved	MRP5, SMRP, EST277145, MOAT-C	uc003fmg.3	O15440	OTTHUMG00000156871	ENST00000334444.6:c.3122G>A	3.37:g.183667646C>T	ENSP00000333926:p.Arg1041His					ABCC5_ENST00000265586.6_Intron	p.R1041H	NM_005688.2	NP_005679.2	O15440	MRP5_HUMAN	Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)		22	3362	-	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		1041			ABC transmembrane type-1 2.		B9EIQ2|O14517|Q29ZA9|Q29ZB1|Q86UX3|Q86W30|Q9UN85|Q9UNP5|Q9UQC3	Missense_Mutation	SNP	ENST00000334444.6	37	c.3122G>A	CCDS43176.1	.	.	.	.	.	.	.	.	.	.	C	29.4	5.003048	0.93287	2.37E-4	1.18E-4	ENSG00000114770	ENST00000334444	D	0.90444	-2.67	5.81	4.94	0.65067	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.047266	0.85682	N	0.000000	D	0.96623	0.8898	H	0.95151	3.63	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	D	0.97496	1.0057	10	0.66056	D	0.02	-8.3426	14.6272	0.68629	0.0:0.9305:0.0:0.0695	.	1041	O15440	MRP5_HUMAN	H	1041	ENSP00000333926:R1041H	ENSP00000333926:R1041H	R	-	2	0	ABCC5	185150340	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.802000	0.85969	1.461000	0.47929	0.655000	0.94253	CGT		0.562	ABCC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346350.1	NM_005688		6	74	0	0	0	1	0	6	74					T	183667646	C	T	183667646	3	4	94	1	0	0	0	0	1	0	0	0	56	536	19	1	1227	1	ABCC5	3	183667646	Missense_Mutation	SNP	C	TCGA-EJ-7782-01A-11D-2114-08	4715620	183667646	14354784	114	4933											
C3orf70	285382	broad.mit.edu	37	chr3	184801249	184801249	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcaaaaagtgttcggtgagcGagactgagatctgaatggtg	12	10	14	5	2	2	4	1	3	1	2	3	6	2	4	0	2	1	1	0	2	3	1			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr3:184801249G>A	ENST00000335012.2	-	2	489	c.299C>T	c.(298-300)tCg>tTg	p.S100L		NM_001025266.1	NP_001020437.1	A6NLC5	CC070_HUMAN	chromosome 3 open reading frame 70	100										breast(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|urinary_tract(1)	13						TTCGGTGAGCGAGACTGAGAT	0.483																																						ENST00000335012.2																			0				breast(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|urinary_tract(1)	13						c.(298-300)tCg>tTg		chromosome 3 open reading frame 70							78	80	79					3																	184801249		2203	4300	6503	SO:0001583	missense	285382							g.chr3:184801249G>A		CCDS33900.1	3q27	2008-08-08			ENSG00000187068	ENSG00000187068			33731	protein-coding gene	gene with protein product							Standard	NM_001025266		Approved		uc003fpd.3	A6NLC5	OTTHUMG00000156696	ENST00000335012.2:c.299C>T	3.37:g.184801249G>A	ENSP00000334974:p.Ser100Leu						p.S100L	NM_001025266.1	NP_001020437.1	A6NLC5	CC070_HUMAN			2	489	-			100					B2RNY2|B9EH83	Missense_Mutation	SNP	ENST00000335012.2	37	c.299C>T	CCDS33900.1	.	.	.	.	.	.	.	.	.	.	G	28.0	4.881598	0.91740	.	.	ENSG00000187068	ENST00000335012	.	.	.	5.79	5.79	0.91817	.	0.124759	0.56097	D	0.000027	T	0.57315	0.2045	L	0.29908	0.895	0.80722	D	1	D	0.62365	0.991	P	0.48901	0.594	T	0.61232	-0.7104	9	0.72032	D	0.01	.	19.6504	0.95798	0.0:0.0:1.0:0.0	.	100	A6NLC5	CC070_HUMAN	L	100	.	ENSP00000334974:S100L	S	-	2	0	C3orf70	186283943	1.000000	0.71417	0.790000	0.31976	0.641000	0.38312	9.476000	0.97823	2.733000	0.93635	0.655000	0.94253	TCG		0.483	C3orf70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345323.1	NM_001025266		7	83	0	0	0	1	0	7	83					A	184801249	G	A	184801249	3	1	94	1	0	0	0	0	1	0	0	0	2242	1059	37	2	457	2	C3orf70	3	184801249	Missense_Mutation	SNP	G	TCGA-EJ-7782-01A-11D-2114-08	1133603	184801249	13221181	115	4934											
MASP1	5648	broad.mit.edu	37	chr3	186947661	186947661	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agatcctggccatcagcttcCgggagaacttggggagccca	9	7	13	12	1	1	2	1	0	0	2	3	4	3	3	4	4	3	1	4	4	1	2			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr3:186947661C>T	ENST00000337774.5	-	11	1717	c.1328G>A	c.(1327-1329)cGg>cAg	p.R443Q		NM_001879.5	NP_001870.3	P48740	MASP1_HUMAN	mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor)	443					complement activation (GO:0006956)|complement activation, lectin pathway (GO:0001867)|innate immune response (GO:0045087)|negative regulation of complement activation (GO:0045916)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	calcium ion binding (GO:0005509)|calcium-dependent protein binding (GO:0048306)|peptidase activity (GO:0008233)|protein homodimerization activity (GO:0042803)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(27)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	60	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;3.49e-18)	GBM - Glioblastoma multiforme(93;0.0366)		CATCAGCTTCCGGGAGAACTT	0.607																																						ENST00000337774.5																			0				NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(27)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	60						c.(1327-1329)cGg>cAg		mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor)							69	66	67					3																	186947661		2203	4300	6503	SO:0001583	missense	5648				complement activation, lectin pathway|negative regulation of complement activation|proteolysis	extracellular space	calcium ion binding|calcium-dependent protein binding|protein binding|protein homodimerization activity|serine-type endopeptidase activity	g.chr3:186947661C>T	D28593	CCDS33907.1, CCDS33908.1, CCDS33909.1	3q27-q28	2014-09-17	2005-08-17		ENSG00000127241	ENSG00000127241		"Serine peptidases / Serine peptidases"	6901	protein-coding gene	gene with protein product		600521	"mannan-binding lectin serine protease 1 (C4/C2 activating component of Ra-reactive factor)"	CRARF, PRSS5		8018603, 8240317	Standard	NR_033519		Approved	MASP	uc003fri.3	P48740	OTTHUMG00000156461	ENST00000337774.5:c.1328G>A	3.37:g.186947661C>T	ENSP00000336792:p.Arg443Gln						p.R443Q	NM_001879.5	NP_001870.3	P48740	MASP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;3.49e-18)	GBM - Glioblastoma multiforme(93;0.0366)	11	1717	-	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		443					A8K542|A8K6M1|B4E2L7|O95570|Q68D21|Q8IUV8|Q96RS4|Q9UF09	Missense_Mutation	SNP	ENST00000337774.5	37	c.1328G>A	CCDS33907.1	.	.	.	.	.	.	.	.	.	.	C	16.16	3.045752	0.55110	.	.	ENSG00000127241	ENST00000337774	D	0.92858	-3.12	5.7	5.7	0.88788	Peptidase cysteine/serine, trypsin-like (1);	.	.	.	.	D	0.85212	0.5645	N	0.19112	0.55	0.80722	D	1	B	0.23650	0.089	B	0.15052	0.012	T	0.80439	-0.1382	9	0.12103	T	0.63	.	17.7138	0.88330	0.0:1.0:0.0:0.0	.	443	P48740	MASP1_HUMAN	Q	443	ENSP00000336792:R443Q	ENSP00000336792:R443Q	R	-	2	0	MASP1	188430355	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	1.939000	0.40213	2.861000	0.98227	0.655000	0.94253	CGG		0.607	MASP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344262.1	NM_001879		9	21	0	0	0	1	0	9	21					T	186947661	C	T	186947661	3	4	94	1	0	0	0	0	1	0	0	0	9322	652	23	2	795	2	MASP1	3	186947661	Missense_Mutation	SNP	C	TCGA-EJ-7782-01A-11D-2114-08	2146412	186947661	11074769	116	4935											
LPP	4026	broad.mit.edu	37	chr3	188327517	188327519	+	In_Frame_Del	DEL	CTC	CTC	-																															gaaacgggaaccagggtacaCtcctcctggagcagggaacc																								rs369623619		TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr3:188327517_188327519delCTC	ENST00000312675.4	+	6	1244_1246	c.998_1000delCTC	c.(997-1002)actcct>act	p.P335del	LPP_ENST00000448637.1_In_Frame_Del_p.P335del|LPP_ENST00000471917.1_3'UTR|LPP_ENST00000543006.1_In_Frame_Del_p.P335del	NM_001167672.1|NM_005578.3	NP_001161144.1|NP_005569.1	Q93052	LPP_HUMAN	LIM domain containing preferred translocation partner in lipoma	335	Pro-rich.				cell adhesion (GO:0007155)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	zinc ion binding (GO:0008270)		HMGA2/LPP(161)	NS(1)|breast(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)	10	all_cancers(143;1.37e-09)|all_hematologic(3;0.0429)|Ovarian(172;0.088)	all_lung(153;0.00139)|Lung NSC(153;0.00202)		GBM - Glioblastoma multiforme(93;0.00602)		CCAGGGTACACTCCTCCTGGAGC	0.552			T	"HMGA2, MLL, C12orf9"	"lipoma, leukemia"																																	ENST00000312675.4				Dom	yes		3	3q28	4026	T	LIM domain containing preferred translocation partner in lipoma			"L, M"	"HMGA2, MLL, C12orf9"		"lipoma, leukemia"	HMGA2/LPP(161)	0				NS(1)|breast(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)	10						c.(997-1002)act>a		LIM domain containing preferred translocation partner in lipoma																																				SO:0001651	inframe_deletion	4026				cell adhesion	cytoplasm|focal adhesion|nucleus	protein binding|zinc ion binding	g.chr3:188327517_188327519delCTC	AL833171	CCDS3291.1	3q27-q28	2004-03-02	2002-01-14		ENSG00000145012	ENSG00000145012			6679	protein-coding gene	gene with protein product		600700	"LIM domain-containing preferred translocation partner in lipoma"			8812423	Standard	XM_005247453		Approved		uc003frs.2	Q93052	OTTHUMG00000156387	ENST00000312675.4:c.998_1000delCTC	3.37:g.188327520_188327522delCTC	ENSP00000318089:p.Pro335del					LPP_ENST00000543006.1_In_Frame_Del_p.TP333del|LPP_ENST00000448637.1_In_Frame_Del_p.TP333del|LPP_ENST00000471917.1_3'UTR	p.TP333del	NM_001167672.1|NM_005578.3	NP_001161144.1|NP_005569.1	Q93052	LPP_HUMAN		GBM - Glioblastoma multiforme(93;0.00602)	6	1244_1246	+	all_cancers(143;1.37e-09)|all_hematologic(3;0.0429)|Ovarian(172;0.088)	all_lung(153;0.00139)|Lung NSC(153;0.00202)	333			Pro-rich.		A1L4L6|D3DNV6|Q8NFX5	In_Frame_Del	DEL	ENST00000312675.4	37	c.998_1000delCTC	CCDS3291.1																																																																																				0.552	LPP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344030.1	NM_005578		17	66						17	66	---	---	---	---	-	188327519	CTC	-	188327517	7	5	94	1	0	1	0	1	0	0	0	0	8923	565	20	0	1012	0	LPP	3	188327517	In_Frame_Del	DEL	CTC	TCGA-EJ-7782-01A-11D-2114-08	1379856	188327517	9694913	117	4936											
GP5	2814	broad.mit.edu	37	chr3	194117340	194117341	+	Frame_Shift_Del	DEL	CT	CT	-																															cccattggtttacccaagggCtctctctctgattaattttc																										TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr3:194117340_194117341delCT	ENST00000401815.1	-	1	1742_1743	c.1671_1672delAG	c.(1669-1674)agagccfs	p.RA557fs	GP5_ENST00000323007.3_Frame_Shift_Del_p.RA557fs			P40197	GPV_HUMAN	glycoprotein V (platelet)	557					blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|negative regulation of platelet activation (GO:0010544)|platelet activation (GO:0030168)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				breast(3)|central_nervous_system(2)|endometrium(2)|large_intestine(9)|lung(14)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	35	all_cancers(143;6.64e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	OV - Ovarian serous cystadenocarcinoma(49;7.38e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.06e-05)		TACCCAAGGGCTCTCTCTCTGA	0.446																																						ENST00000401815.1																			0				breast(3)|central_nervous_system(2)|endometrium(2)|large_intestine(9)|lung(14)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	35						c.(1669-1674)agccfs		glycoprotein V (platelet)																																				SO:0001589	frameshift_variant	2814				blood coagulation, intrinsic pathway|cell adhesion|platelet activation	integral to plasma membrane		g.chr3:194117340_194117341delCT	L11238	CCDS3307.1	3q29	2008-02-01			ENSG00000178732	ENSG00000178732		"CD molecules"	4443	protein-coding gene	gene with protein product		173511				7690959	Standard	NM_004488		Approved	CD42d	uc003ftv.1	P40197	OTTHUMG00000150345	ENST00000401815.1:c.1671_1672delAG	3.37:g.194117348_194117349delCT	ENSP00000383931:p.Arg557fs					GP5_ENST00000323007.3_Frame_Shift_Del_p.RA557fs	p.RA557fs			P40197	GPV_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;7.38e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.06e-05)	1	1742_1743	-	all_cancers(143;6.64e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	557					D1MER9	Frame_Shift_Del	DEL	ENST00000401815.1	37	c.1671_1672delAG	CCDS3307.1																																																																																				0.446	GP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317710.1	NM_004488		7	198						7	198	---	---	---	---	-	194117341	CT	-	194117340	7	5	94	1	0	1	0	1	0	0	0	0	6583	797	28	0	14	0	GP5	3	194117340	Frame_Shift_Del	DEL	CT	TCGA-EJ-7782-01A-11D-2114-08	5789823	194117340	3905090	118	4937											
PDE6B	5158	broad.mit.edu	37	chr4	648639	648639	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcttctacaaagtgatcgaCtacgtcctccacggcaagga	11	9	9	12	3	2	1	0	1	2	0	5	3	4	2	2	2	2	1	2	2	4	3			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr4:648639C>T	ENST00000496514.1	+	6	975	c.954C>T	c.(952-954)gaC>gaT	p.D318D	RP11-1191J2.2_ENST00000468356.1_RNA|PDE6B_ENST00000255622.6_Silent_p.D318D|RP11-1191J2.2_ENST00000598370.1_RNA|PDE6B_ENST00000429163.2_Silent_p.D39D|RP11-1191J2.2_ENST00000489312.1_RNA|RP11-1191J2.2_ENST00000599030.1_RNA			P35913	PDE6B_HUMAN	phosphodiesterase 6B, cGMP-specific, rod, beta	318	GAF 2.				cytosolic calcium ion homeostasis (GO:0051480)|GMP metabolic process (GO:0046037)|phototransduction, visible light (GO:0007603)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|retina development in camera-type eye (GO:0060041)|rhodopsin mediated signaling pathway (GO:0016056)|visual perception (GO:0007601)	photoreceptor disc membrane (GO:0097381)|plasma membrane (GO:0005886)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|metal ion binding (GO:0046872)			NS(1)|breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|urinary_tract(1)	30					Caffeine(DB00201)	AAGTGATCGACTACGTCCTCC	0.582																																					GBM(71;463 1194 9848 25922 46834)	ENST00000255622.6																			0				NS(1)|breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|urinary_tract(1)	30						c.(952-954)gaC>gaT		phosphodiesterase 6B, cGMP-specific, rod, beta							158	148	151					4																	648639		2203	4300	6503	SO:0001819	synonymous_variant	5158				cytosolic calcium ion homeostasis|GMP metabolic process|phototransduction, visible light|platelet activation|visual perception	cytosol|membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding	g.chr4:648639C>T	BC000249	CCDS33932.1, CCDS46993.1, CCDS54703.1	4p16.3	2014-01-28	2008-07-31		ENSG00000133256	ENSG00000133256	3.1.4.17	"Phosphodiesterases"	8786	protein-coding gene	gene with protein product	"congenital stationary night blindness 3, autosomal dominant"	180072		PDEB		1313787	Standard	NM_001145292		Approved	CSNB3, rd1, RP40, CSNBAD2	uc003gap.3	P35913	OTTHUMG00000159909	ENST00000496514.1:c.954C>T	4.37:g.648639C>T						RP11-1191J2.2_ENST00000489312.1_RNA|PDE6B_ENST00000496514.1_Silent_p.D318D|PDE6B_ENST00000429163.2_Silent_p.D39D|RP11-1191J2.2_ENST00000468356.1_RNA	p.D318D	NM_000283.3|NM_001145291.1	NP_000274.2|NP_001138763.1	P35913	PDE6B_HUMAN			6	997	+			318			GAF 2.		B7Z9T9|E7ETT3|Q53XN5|Q9BWH5|Q9UD49	Silent	SNP	ENST00000496514.1	37	c.954C>T	CCDS33932.1																																																																																				0.582	PDE6B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000358109.1	NM_000283		4	61	0	0	0	1	0	4	61					T	648639	C	T	648639	2	4	94	1	0	0	0	0	0	0	0	1	11646	564	20	3		3	PDE6B	4	648639	Silent	SNP	C	TCGA-EJ-7782-01A-11D-2114-08		648639	190505637	119	4938											
TMEM128	85013	broad.mit.edu	37	chr4	4239662	4239662	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgccataaagcaatgttgaaGctgaaaagaacaagacataa	20	7	8	6	0	0	4	0	2	0	2	0	4	0	4	1	0	4	3	1	0	9	3			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr4:4239662G>A	ENST00000382753.4	-	4	408	c.399C>T	c.(397-399)tgC>tgT	p.C133C	TMEM128_ENST00000538516.1_Intron|TMEM128_ENST00000540397.1_Splice_Site_p.C133C|TMEM128_ENST00000254742.2_Splice_Site_p.C109C			Q5BJH2	TM128_HUMAN	transmembrane protein 128	133						integral component of membrane (GO:0016021)				endometrium(1)|kidney(1)	2				UCEC - Uterine corpus endometrioid carcinoma (64;0.166)		CAATGTTGAAGCTGAAAAGAA	0.343																																						ENST00000254742.2																			0				endometrium(1)|kidney(1)	2						c.e4-1		transmembrane protein 128							44	38	40					4																	4239662		2203	4300	6503	SO:0001630	splice_region_variant	85013					integral to membrane		g.chr4:4239662G>A	BC007729	CCDS3373.1, CCDS75099.1	4p16.3	2008-02-05			ENSG00000132406	ENSG00000132406			28201	protein-coding gene	gene with protein product							Standard	XM_005248034		Approved	MGC13159	uc003ghq.1	Q5BJH2	OTTHUMG00000125475	ENST00000382753.4:c.399-1C>T	4.37:g.4239662G>A						TMEM128_ENST00000540397.1_Splice_Site_p.C133_splice|TMEM128_ENST00000538516.1_Intron|TMEM128_ENST00000382753.4_Splice_Site_p.C133_splice	p.C109_splice	NM_032927.2	NP_116316.1	Q5BJH2	TM128_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.166)	4	913	-			133					B4DHS7|D3DVS3|Q5H9U6|Q96I94	Splice_Site	SNP	ENST00000382753.4	37	c.326_splice																																																																																					0.343	TMEM128-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000246798.2	NM_032927	Silent	8	33	0	0	0	1	0	8	33					A	4239662	G	A	4239662	5	1	94	1	0	0	0	0	0	0	1	0	16038	985	34	3	102	3	TMEM128	4	4239662	Splice_Site	SNP	G	TCGA-EJ-7782-01A-11D-2114-08	3591023	4239662	186914614	120	4939											
MAN2B2	23324	broad.mit.edu	37	chr4	6610853	6610853	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gacagagtaaccgaacggtgCgcgtgacccaggaattcctg	11	6	13	11	4	0	2	0	1	0	1	1	5	1	3	3	2	3	1	3	2	3	2	rs151180999		TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr4:6610853C>T	ENST00000285599.3	+	12	1870	c.1834C>T	c.(1834-1836)Cgc>Tgc	p.R612C	MAN2B2_ENST00000504248.1_Missense_Mutation_p.R561C|MAN2B2_ENST00000504960.1_3'UTR	NM_015274.1	NP_056089.1	Q9Y2E5	MA2B2_HUMAN	mannosidase, alpha, class 2B, member 2	612					mannose metabolic process (GO:0006013)	extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	alpha-mannosidase activity (GO:0004559)|carbohydrate binding (GO:0030246)|zinc ion binding (GO:0008270)			breast(2)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(9)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	30						CCGAACGGTGCGCGTGACCCA	0.572																																						ENST00000285599.3																			0				breast(2)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(9)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	30						c.(1834-1836)Cgc>Tgc		mannosidase, alpha, class 2B, member 2		C	CYS/ARG	0,4406		0,0,2203	78	68	71		1834	1.2	0	4	dbSNP_134	71	1,8599	1.2+/-3.3	0,1,4299	no	missense	MAN2B2	NM_015274.1	180	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	612/1010	6610853	1,13005	2203	4300	6503	SO:0001583	missense	23324				mannose metabolic process	extracellular region	alpha-mannosidase activity|carbohydrate binding|zinc ion binding	g.chr4:6610853C>T	BC033307	CCDS33951.1	4p16.2	2005-11-09			ENSG00000013288	ENSG00000013288			29623	protein-coding gene	gene with protein product	"core-specific lysosomal alpha-1,6-Mannosidase"					10231032, 16115860	Standard	XR_241647		Approved	KIAA0935	uc003gjf.1	Q9Y2E5	OTTHUMG00000160073	ENST00000285599.3:c.1834C>T	4.37:g.6610853C>T	ENSP00000285599:p.Arg612Cys					MAN2B2_ENST00000504960.1_3'UTR|MAN2B2_ENST00000504248.1_Missense_Mutation_p.R561C	p.R612C	NM_015274.1	NP_056089.1	Q9Y2E5	MA2B2_HUMAN			12	1870	+			612					Q66MP2|Q86T67	Missense_Mutation	SNP	ENST00000285599.3	37	c.1834C>T	CCDS33951.1	.	.	.	.	.	.	.	.	.	.	C	14.84	2.655469	0.47467	0.0	1.16E-4	ENSG00000013288	ENST00000285599;ENST00000504248	T;T	0.79141	-1.24;-1.24	4.26	1.25	0.21368	Glycosyl hydrolases 38, C-terminal (1);Glycoside hydrolase-type carbohydrate-binding (1);	0.934003	0.09143	N	0.842730	T	0.80711	0.4675	L	0.53249	1.67	0.09310	N	0.999997	D;D;D	0.76494	0.999;0.997;0.976	P;P;P	0.60345	0.873;0.873;0.764	T	0.65578	-0.6134	10	0.37606	T	0.19	-1.3779	6.6487	0.22949	0.3125:0.5998:0.0:0.0876	.	561;612;612	E9PCD7;Q9Y2E5;Q9Y2E5-2	.;MA2B2_HUMAN;.	C	612;561	ENSP00000285599:R612C;ENSP00000423129:R561C	ENSP00000285599:R612C	R	+	1	0	MAN2B2	6661754	0.000000	0.05858	0.000000	0.03702	0.110000	0.19582	0.618000	0.24373	0.245000	0.21373	0.313000	0.20887	CGC		0.572	MAN2B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359106.2	NM_015274		8	17	0	0	0	1	0	8	17					T	6610853	C	T	6610853	3	4	94	1	0	0	0	0	1	0	0	0	9217	768	27	1	1880	1	MAN2B2	4	6610853	Missense_Mutation	SNP	C	TCGA-EJ-7782-01A-11D-2114-08	2371191	6610853	184543423	121	4940											
S100P	6286	broad.mit.edu	37	chr4	6695686	6695686	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaactagagacagccatgggCatgatcatagacgtcttttc	12	10	10	9	1	2	3	1	1	1	2	3	5	2	3	1	1	2	1	1	1	3	4			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr4:6695686C>T	ENST00000296370.3	+	1	891	c.27C>T	c.(25-27)ggC>ggT	p.G9G	AC093323.1_ENST00000596858.1_5'Flank|S100P_ENST00000513778.1_Intron	NM_005980.2	NP_005971.1	P25815	S100P_HUMAN	S100 calcium binding protein P	9					endothelial cell migration (GO:0043542)|response to organic substance (GO:0010033)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent protein binding (GO:0048306)|magnesium ion binding (GO:0000287)			prostate(1)	1		Myeloproliferative disorder(84;0.0255)		Colorectal(103;0.011)	Cromoglicic acid(DB01003)	CAGCCATGGGCATGATCATAG	0.587																																						ENST00000296370.3																			0				prostate(1)	1						c.(25-27)ggC>ggT		S100 calcium binding protein P	Cromoglicate(DB01003)						74	65	68					4																	6695686		2203	4300	6503	SO:0001819	synonymous_variant	6286				endothelial cell migration	cytoplasm|nucleus	calcium ion binding|calcium-dependent protein binding|magnesium ion binding	g.chr4:6695686C>T	X65614	CCDS3391.1	4p16	2013-01-10	2001-11-28		ENSG00000163993	ENSG00000163993		"S100 calcium binding proteins", "EF-hand domain containing"	10504	protein-coding gene	gene with protein product		600614	"S100 calcium-binding protein P"			8341667, 7759097	Standard	NM_005980		Approved		uc003gjl.3	P25815	OTTHUMG00000090491	ENST00000296370.3:c.27C>T	4.37:g.6695686C>T						S100P_ENST00000513778.1_Intron	p.G9G	NM_005980.2	NP_005971.1	P25815	S100P_HUMAN		Colorectal(103;0.011)	1	891	+		Myeloproliferative disorder(84;0.0255)	9					Q5J7W2	Silent	SNP	ENST00000296370.3	37	c.27C>T	CCDS3391.1																																																																																				0.587	S100P-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206979.1	NM_005980		15	32	0	0	0	1	0	15	32					T	6695686	C	T	6695686	2	4	94	1	0	0	0	0	0	0	0	1	13790	697	25	3		3	S100P	4	6695686	Silent	SNP	C	TCGA-EJ-7782-01A-11D-2114-08	84833	6695686	184458590	122	4941											
AFAP1	60312	broad.mit.edu	37	chr4	7788025	7788025	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggttagcagatataacacGcctgttcatgaaactgaaag	14	10	10	7	1	1	3	1	2	0	1	1	3	1	3	1	1	3	3	1	1	5	4	rs115544900	byFrequency	TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr4:7788025G>A	ENST00000360265.4	-	11	1660	c.1426C>T	c.(1426-1428)Cgt>Tgt	p.R476C	AFAP1_ENST00000420658.1_Missense_Mutation_p.R476C|AFAP1_ENST00000358461.2_Missense_Mutation_p.R476C|AFAP1_ENST00000513842.1_5'UTR|AFAP1_ENST00000382543.3_Missense_Mutation_p.R476C			Q8N556	AFAP1_HUMAN	actin filament associated protein 1	476						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(4)|stomach(2)	32						GATATAACACGCCTGTTCATG	0.468																																						ENST00000420658.1																			0				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(4)|stomach(2)	32						c.(1426-1428)Cgt>Tgt		actin filament associated protein 1							124	122	123					4																	7788025		2203	4300	6503	SO:0001583	missense	60312					actin cytoskeleton|cytoplasm|focal adhesion	actin binding	g.chr4:7788025G>A	AB209676	CCDS3397.1, CCDS47010.1	4p16	2014-02-12	2007-02-07		ENSG00000196526	ENSG00000196526		"Pleckstrin homology (PH) domain containing"	24017	protein-coding gene	gene with protein product		608252				14755689, 11641786, 11607843	Standard	NM_198595		Approved	AFAP-110, AFAP	uc011bwk.1	Q8N556	OTTHUMG00000125515	ENST00000360265.4:c.1426C>T	4.37:g.7788025G>A	ENSP00000353402:p.Arg476Cys					AFAP1_ENST00000360265.4_Missense_Mutation_p.R476C|AFAP1_ENST00000382543.3_Missense_Mutation_p.R476C|AFAP1_ENST00000513842.1_5'UTR|AFAP1_ENST00000358461.2_Missense_Mutation_p.R476C	p.R476C	NM_001134647.1	NP_001128119.1	Q8N556	AFAP1_HUMAN			12	1698	-			476					A8K442|B4DMU2|E9PDT7|Q59EY5|Q9HBY1	Missense_Mutation	SNP	ENST00000360265.4	37	c.1426C>T	CCDS3397.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	20.5	4.004245	0.74932	.	.	ENSG00000196526	ENST00000360265;ENST00000420658;ENST00000358461;ENST00000382543	T;T;T;T	0.23147	2.26;1.92;2.26;1.92	5.27	4.42	0.53409	.	0.000000	0.85682	D	0.000000	T	0.51312	0.1667	M	0.77616	2.38	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.994	T	0.56323	-0.7998	10	0.72032	D	0.01	-20.5832	13.1946	0.59730	0.0:0.0:0.7115:0.2885	.	476;476	E9PDT7;Q8N556	.;AFAP1_HUMAN	C	476	ENSP00000353402:R476C;ENSP00000410689:R476C;ENSP00000351245:R476C;ENSP00000371983:R476C	ENSP00000351245:R476C	R	-	1	0	AFAP1	7838925	1.000000	0.71417	0.989000	0.46669	0.903000	0.53119	4.651000	0.61447	1.195000	0.43115	0.650000	0.86243	CGT		0.468	AFAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246842.2	NM_021638		6	95	0	0	0	1	0	6	95					A	7788025	G	A	7788025	3	1	94	1	0	0	0	0	1	0	0	0	353	1087	38	1	1046	1	AFAP1	4	7788025	Missense_Mutation	SNP	G	TCGA-EJ-7782-01A-11D-2114-08	1092339	7788025	183366251	123	4942											
LGI2	55203	broad.mit.edu	37	chr4	25005192	25005192	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaatgaacgaggcgcctgcaCgtaaatctccttaaactttt	12	11	8	10	3	1	1	0	1	1	0	2	3	1	1	2	1	3	2	2	1	6	4			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr4:25005192C>T	ENST00000382114.4	-	8	1704	c.1519G>A	c.(1519-1521)Gtg>Atg	p.V507M		NM_018176.3	NP_060646.2	Q8N0V4	LGI2_HUMAN	leucine-rich repeat LGI family, member 2	507						extracellular region (GO:0005576)				breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|prostate(1)|skin(3)|stomach(2)	33		Breast(46;0.173)				GGCGCCTGCACGTAAATCTCC	0.408																																						ENST00000382114.4																			0				breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|prostate(1)|skin(3)|stomach(2)	33						c.(1519-1521)Gtg>Atg		leucine-rich repeat LGI family, member 2							92	102	99					4																	25005192		2203	4300	6503	SO:0001583	missense	55203					extracellular region		g.chr4:25005192C>T	AJ487516	CCDS3431.1	4p15.31	2008-07-28			ENSG00000153012	ENSG00000153012			18710	protein-coding gene	gene with protein product		608301				12023020, 16014869	Standard	NM_018176		Approved	KIAA1916, FLJ10675	uc003grf.2	Q8N0V4	OTTHUMG00000097749	ENST00000382114.4:c.1519G>A	4.37:g.25005192C>T	ENSP00000371548:p.Val507Met						p.V507M	NM_018176.3	NP_060646.2	Q8N0V4	LGI2_HUMAN			8	1704	-		Breast(46;0.173)	507					Q3MIN2|Q8NDW6|Q96PX2|Q9NVK4	Missense_Mutation	SNP	ENST00000382114.4	37	c.1519G>A	CCDS3431.1	.	.	.	.	.	.	.	.	.	.	C	17.66	3.444320	0.63178	.	.	ENSG00000153012	ENST00000382114;ENST00000282970	D	0.81739	-1.53	5.57	5.57	0.84162	.	0.056412	0.64402	D	0.000001	D	0.82655	0.5084	L	0.39020	1.185	0.51767	D	0.999937	D	0.54397	0.966	P	0.54026	0.74	T	0.83287	-0.0035	10	0.52906	T	0.07	-24.6138	19.5537	0.95331	0.0:1.0:0.0:0.0	.	507	Q8N0V4	LGI2_HUMAN	M	507;155	ENSP00000371548:V507M	ENSP00000282970:V155M	V	-	1	0	LGI2	24614290	0.999000	0.42202	0.987000	0.45799	0.919000	0.55068	3.747000	0.55134	2.614000	0.88457	0.557000	0.71058	GTG		0.408	LGI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214978.1			11	57	0	0	0	1	0	11	57					T	25005192	C	T	25005192	3	4	94	1	0	0	0	0	1	0	0	0	8752	536	19	1	122	1	LGI2	4	25005192	Missense_Mutation	SNP	C	TCGA-EJ-7782-01A-11D-2114-08	17217167	25005192	166149084	124	4943											
RFC1	5981	broad.mit.edu	37	chr4	39301676	39301676	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	actccagttttgcttactccGgatctggctgtccactaggt	6	14	9	12	1	1	0	0	0	1	0	4	1	4	1	3	3	2	3	3	3	2	4			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr4:39301676G>A	ENST00000381897.1	-	21	2909	c.2776C>T	c.(2776-2778)Cgg>Tgg	p.R926W	RNU6-32P_ENST00000383948.1_RNA|RFC1_ENST00000349703.2_Missense_Mutation_p.R925W	NM_001204747.1|NM_002913.4	NP_001191676.1|NP_002904.3	P35251	RFC1_HUMAN	replication factor C (activator 1) 1, 145kDa	926					DNA repair (GO:0006281)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA-dependent DNA replication (GO:0006261)|mitotic cell cycle (GO:0000278)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|positive regulation of catalytic activity (GO:0043085)|positive regulation of transcription, DNA-templated (GO:0045893)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|telomere maintenance via telomerase (GO:0007004)|transcription, DNA-templated (GO:0006351)|transcription-coupled nucleotide-excision repair (GO:0006283)	cell junction (GO:0030054)|DNA replication factor C complex (GO:0005663)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA clamp loader activity (GO:0003689)|double-stranded DNA binding (GO:0003690)|enzyme activator activity (GO:0008047)|sequence-specific DNA binding (GO:0043565)			haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	16						TGCTTACTCCGGATCTGGCTG	0.493																																					Colon(109;59 1555 12203 17579 39824)|Esophageal Squamous(18;360 542 16186 28570 51157)	ENST00000381897.1																			0				haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	16						c.(2776-2778)Cgg>Tgg		replication factor C (activator 1) 1, 145kDa							92	87	89					4																	39301676		2203	4300	6503	SO:0001583	missense	5981				DNA strand elongation involved in DNA replication|nucleotide-excision repair, DNA gap filling|regulation of transcription, DNA-dependent|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|telomere maintenance via telomerase|transcription, DNA-dependent|transcription-coupled nucleotide-excision repair	DNA replication factor C complex|nucleoplasm	ATP binding|DNA clamp loader activity|enzyme activator activity|protein binding	g.chr4:39301676G>A	L23320	CCDS3450.1, CCDS56329.1	4p14-p13	2010-04-21	2002-08-29		ENSG00000035928	ENSG00000035928		"ATPases / AAA-type"	9969	protein-coding gene	gene with protein product		102579	"replication factor C (activator 1) 1 (145kD)"			8114700	Standard	NM_002913		Approved	A1, PO-GA, RFC140, MHCBFB	uc003gty.2	P35251	OTTHUMG00000099363	ENST00000381897.1:c.2776C>T	4.37:g.39301676G>A	ENSP00000371321:p.Arg926Trp					RFC1_ENST00000349703.2_Missense_Mutation_p.R925W	p.R926W	NM_001204747.1|NM_002913.4	NP_001191676.1|NP_002904.3	P35251	RFC1_HUMAN			21	2909	-			926					A8K6E7|Q5XKF5|Q6PKU0|Q86V41|Q86V46	Missense_Mutation	SNP	ENST00000381897.1	37	c.2776C>T	CCDS56329.1	.	.	.	.	.	.	.	.	.	.	G	35	5.444092	0.96187	.	.	ENSG00000035928	ENST00000381897;ENST00000349703	T;T	0.51574	0.7;0.7	6.01	6.01	0.97437	DNA replication factor RFC1, C-terminal (1);DNA polymerase III, clamp loader complex, gamma/delta/delta subunit, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.78916	0.4359	M	0.93150	3.385	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.997	T	0.83121	-0.0118	10	0.87932	D	0	-11.8897	20.5109	0.99210	0.0:0.0:1.0:0.0	.	926;925	P35251;P35251-2	RFC1_HUMAN;.	W	926;925	ENSP00000371321:R926W;ENSP00000261424:R925W	ENSP00000261424:R925W	R	-	1	2	RFC1	38978071	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.969000	0.87988	2.851000	0.98039	0.609000	0.83330	CGG		0.493	RFC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000216808.1	NM_002913		5	41	0	0	0	1	0	5	41					A	39301676	G	A	39301676	3	1	94	1	0	0	0	0	1	0	0	0	13244	1115	39	2	690	2	RFC1	4	39301676	Missense_Mutation	SNP	G	TCGA-EJ-7782-01A-11D-2114-08	14296484	39301676	151852600	125	4944											
KCTD8	386617	broad.mit.edu	37	chr4	44450453	44450453	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gggccccggggcggcggcggCcgacgcgccgggcgagctgg	2	1	23	15	9	0	0	0	0	0	0	0	2	0	0	4	8	1	1	4	8	0	0			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr4:44450453C>T	ENST00000360029.3	-	1	371	c.88G>A	c.(88-90)Gcc>Acc	p.A30T	AC131951.1_ENST00000584757.1_RNA	NM_198353.2	NP_938167.1	Q6ZWB6	KCTD8_HUMAN	potassium channel tetramerization domain containing 8	30					protein homooligomerization (GO:0051260)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235)				central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(3)|upper_aerodigestive_tract(4)	41						gcggcggcggccgacgcgccg	0.687										HNSCC(17;0.042)																												ENST00000360029.3																			0				central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(3)|upper_aerodigestive_tract(4)	41						c.(88-90)Gcc>Acc		potassium channel tetramerization domain containing 8							9	9	9					4																	44450453		2004	3955	5959	SO:0001583	missense	386617					cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr4:44450453C>T	AK123347	CCDS3467.1	4p13	2013-06-20	2013-06-20		ENSG00000183783	ENSG00000183783			22394	protein-coding gene	gene with protein product			"potassium channel tetramerisation domain containing 8"				Standard	NM_198353		Approved		uc003gwu.3	Q6ZWB6	OTTHUMG00000099409	ENST00000360029.3:c.88G>A	4.37:g.44450453C>T	ENSP00000353129:p.Ala30Thr	HNSCC(17;0.042)					p.A30T	NM_198353.2	NP_938167.1	Q6ZWB6	KCTD8_HUMAN			1	371	-			30					A2RU39	Missense_Mutation	SNP	ENST00000360029.3	37	c.88G>A	CCDS3467.1	.	.	.	.	.	.	.	.	.	.	C	3.092	-0.186603	0.06340	.	.	ENSG00000183783	ENST00000360029	T	0.38401	1.14	4.15	2.08	0.27032	.	0.932993	0.08828	N	0.887792	T	0.17109	0.0411	N	0.08118	0	0.09310	N	1	B	0.19445	0.036	B	0.14578	0.011	T	0.31806	-0.9930	10	0.11182	T	0.66	.	7.5936	0.28035	0.2321:0.5989:0.1689:0.0	.	30	Q6ZWB6	KCTD8_HUMAN	T	30	ENSP00000353129:A30T	ENSP00000353129:A30T	A	-	1	0	KCTD8	44145210	0.996000	0.38824	0.002000	0.10522	0.262000	0.26303	-0.159000	0.10056	0.163000	0.19507	0.467000	0.42956	GCC		0.687	KCTD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216868.1			4	4	0	0	0	1	0	4	4					T	44450453	C	T	44450453	3	4	94	1	0	0	0	0	1	0	0	0	8115	739	26	3	1341	3	KCTD8	4	44450453	Missense_Mutation	SNP	C	TCGA-EJ-7782-01A-11D-2114-08	5148777	44450453	146703823	126	4945											
SPATA18	132671	broad.mit.edu	37	chr4	52960705	52960705	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttttccagatgtctcgaagtCggagtccttctccaataaga	10	13	8	10	2	2	2	0	0	2	2	7	4	4	3	3	1	0	0	3	1	3	4	rs374841570		TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr4:52960705C>T	ENST00000295213.4	+	12	1950	c.1576C>T	c.(1576-1578)Cgg>Tgg	p.R526W	SPATA18_ENST00000419395.2_Missense_Mutation_p.R494W	NM_145263.2	NP_660306.1	Q8TC71	MIEAP_HUMAN	spermatogenesis associated 18	526					cellular response to DNA damage stimulus (GO:0006974)|mitochondrial protein catabolic process (GO:0035694)|mitochondrion degradation by induced vacuole formation (GO:0035695)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrial outer membrane (GO:0005741)				breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41			GBM - Glioblastoma multiforme(4;1.77e-13)|LUSC - Lung squamous cell carcinoma(32;0.00204)			GTCTCGAAGTCGGAGTCCTTC	0.348																																						ENST00000295213.4																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						c.(1576-1578)Cgg>Tgg		spermatogenesis associated 18		C	TRP/ARG	0,4406		0,0,2203	112	117	115		1576	4.8	1	4		115	1,8599	1.2+/-3.3	0,1,4299	no	missense	SPATA18	NM_145263.2	101	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	526/539	52960705	1,13005	2203	4300	6503	SO:0001583	missense	132671				mitochondrial protein catabolic process|mitochondrion degradation by induced vacuole formation|response to DNA damage stimulus	mitochondrial outer membrane	protein binding	g.chr4:52960705C>T	BC025396	CCDS3489.1, CCDS75124.1	4q11	2012-01-23	2012-01-23		ENSG00000163071	ENSG00000163071			29579	protein-coding gene	gene with protein product		612814	"spermatogenesis associated 18 homolog (rat)"			21300779	Standard	XR_245253		Approved	FLJ32906	uc003gzl.3	Q8TC71	OTTHUMG00000128698	ENST00000295213.4:c.1576C>T	4.37:g.52960705C>T	ENSP00000295213:p.Arg526Trp					SPATA18_ENST00000419395.2_Missense_Mutation_p.R494W	p.R526W	NM_145263.2	NP_660306.1	Q8TC71	MIEAP_HUMAN	GBM - Glioblastoma multiforme(4;1.77e-13)|LUSC - Lung squamous cell carcinoma(32;0.00204)		12	1950	+			526					B4E2R0|E5RLK1|Q8IY48|Q8N7D7	Missense_Mutation	SNP	ENST00000295213.4	37	c.1576C>T	CCDS3489.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.269392	0.80469	0.0	1.16E-4	ENSG00000163071	ENST00000295213;ENST00000419395	T;T	0.36699	1.24;1.26	4.84	4.84	0.62591	.	0.197922	0.43579	D	0.000555	T	0.56381	0.1981	M	0.61703	1.905	0.42626	D	0.993367	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.59010	-0.7534	10	0.87932	D	0	-9.9646	13.6443	0.62272	0.0:1.0:0.0:0.0	.	494;526	Q8TC71-2;Q8TC71	.;MIEAP_HUMAN	W	526;494	ENSP00000295213:R526W;ENSP00000415309:R494W	ENSP00000295213:R526W	R	+	1	2	SPATA18	52655462	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	3.711000	0.54868	2.677000	0.91161	0.655000	0.94253	CGG		0.348	SPATA18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250597.2	NM_145263		4	38	0	0	0	1	0	4	38					T	52960705	C	T	52960705	3	4	94	1	0	0	0	0	1	0	0	0	15002	875	31	2	1622	2	SPATA18	4	52960705	Missense_Mutation	SNP	C	TCGA-EJ-7782-01A-11D-2114-08	8510252	52960705	138193571	127	4946											
POLR2B	5431	broad.mit.edu	37	chr4	57876617	57876617	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	acggcaagctagcaaaaccaAgacagttgcataatacgttg	16	7	9	9	2	0	1	0	0	0	1	0	1	0	1	1	1	5	6	1	1	7	5			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr4:57876617A>C	ENST00000381227.1	+	12	1908	c.1495A>C	c.(1495-1497)Aga>Cga	p.R499R	POLR2B_ENST00000510355.1_3'UTR|POLR2B_ENST00000431623.2_Silent_p.R424R|POLR2B_ENST00000314595.5_Silent_p.R499R|POLR2B_ENST00000441246.2_Silent_p.R492R			P30876	RPB2_HUMAN	polymerase (RNA) II (DNA directed) polypeptide B, 140kDa	499					7-methylguanosine mRNA capping (GO:0006370)|DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|nucleotide-excision repair (GO:0006289)|positive regulation of viral transcription (GO:0050434)|RNA splicing (GO:0008380)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032)	DNA-directed RNA polymerase II, core complex (GO:0005665)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|ribonucleoside binding (GO:0032549)			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(10)|large_intestine(9)|lung(17)|ovary(2)|prostate(4)|skin(1)	52	Glioma(25;0.08)|all_neural(26;0.181)					AGCAAAACCAAGACAGTTGCA	0.428																																						ENST00000381227.1																			0				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(10)|large_intestine(9)|lung(17)|ovary(2)|prostate(4)|skin(1)	52						c.(1495-1497)Aga>Cga		polymerase (RNA) II (DNA directed) polypeptide B, 140kDa							127	128	128					4																	57876617		2203	4300	6503	SO:0001819	synonymous_variant	5431				mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|protein binding|ribonucleoside binding	g.chr4:57876617A>C		CCDS3511.1	4q12	2013-01-21	2002-08-29		ENSG00000047315	ENSG00000047315		"RNA polymerase subunits"	9188	protein-coding gene	gene with protein product		180661	"polymerase (RNA) II (DNA directed) polypeptide B (140kD)"			1518060, 8034326	Standard	NM_000938		Approved	RPB2	uc003hcl.1	P30876	OTTHUMG00000128771	ENST00000381227.1:c.1495A>C	4.37:g.57876617A>C						POLR2B_ENST00000441246.2_Silent_p.R492R|POLR2B_ENST00000510355.1_3'UTR|POLR2B_ENST00000431623.2_Silent_p.R424R|POLR2B_ENST00000314595.5_Silent_p.R499R	p.R499R			P30876	RPB2_HUMAN			12	1908	+	Glioma(25;0.08)|all_neural(26;0.181)		499					A8K1A8|Q8IZ61	Silent	SNP	ENST00000381227.1	37	c.1495A>C	CCDS3511.1																																																																																				0.428	POLR2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250692.1	NM_000938		32	58	0	0	0	1	0	32	58					C	57876617	A	C	57876617	2	2	94	1	0	0	0	0	0	0	0	1	12215	64	3	5		5	POLR2B	4	57876617	Silent	SNP	A	TCGA-EJ-7782-01A-11D-2114-08	4915912	57876617	133277659	128	4947											
TMPRSS11B	132724	broad.mit.edu	37	chr4	69101871	69101871	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	taaaaatctctgatttacctTagtctcaatatctttgctta	12	18	3	8	0	3	1	1	1	3	0	5	1	3	1	1	0	2	1	1	0	8	7	rs376428535		TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr4:69101871T>C	ENST00000332644.5	-	3	399	c.238A>G	c.(238-240)Aag>Gag	p.K80E		NM_182502.3	NP_872308.2	Q86T26	TM11B_HUMAN	transmembrane protease, serine 11B	80	SEA. {ECO:0000255|PROSITE- ProRule:PRU00188}.					extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	serine-type endopeptidase activity (GO:0004252)			breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(1)	27						TGATTTACCTTAGTCTCAATA	0.284																																						ENST00000332644.5																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(1)	27						c.(238-240)Aag>Gag		transmembrane protease, serine 11B		T	GLU/LYS	0,4386		0,0,2193	40	40	40		238	1.6	0.9	4		40	1,8581	1.2+/-3.3	0,1,4290	no	missense	TMPRSS11B	NM_182502.3	56	0,1,6483	CC,CT,TT		0.0117,0.0,0.0077	possibly-damaging	80/417	69101871	1,12967	2193	4291	6484	SO:0001583	missense	132724				proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity	g.chr4:69101871T>C	BX537945	CCDS3521.1	4q13.2	2010-04-13			ENSG00000185873	ENSG00000185873		"Serine peptidases / Transmembrane"	25398	protein-coding gene	gene with protein product							Standard	NM_182502		Approved		uc003hdw.4	Q86T26	OTTHUMG00000129301	ENST00000332644.5:c.238A>G	4.37:g.69101871T>C	ENSP00000330475:p.Lys80Glu						p.K80E	NM_182502.3	NP_872308.2	Q86T26	TM11B_HUMAN			3	399	-			80			SEA.		A8K4D9	Missense_Mutation	SNP	ENST00000332644.5	37	c.238A>G	CCDS3521.1	.	.	.	.	.	.	.	.	.	.	T	5.825	0.336475	0.11013	0.0	1.17E-4	ENSG00000185873	ENST00000332644	T	0.37584	1.19	4.1	1.64	0.23874	SEA (2);	0.352647	0.20492	N	0.091268	T	0.26702	0.0653	L	0.49350	1.555	0.26163	N	0.979977	P	0.45176	0.852	B	0.42462	0.388	T	0.07693	-1.0759	10	0.20519	T	0.43	.	3.7021	0.08386	0.0:0.118:0.2277:0.6543	.	80	Q86T26	TM11B_HUMAN	E	80	ENSP00000330475:K80E	ENSP00000330475:K80E	K	-	1	0	TMPRSS11B	68784466	0.097000	0.21791	0.881000	0.34555	0.960000	0.62799	0.190000	0.17057	0.710000	0.31997	0.477000	0.44152	AAG		0.284	TMPRSS11B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251431.2	NM_182502		11	20	0	0	0	1	0	11	20					C	69101871	T	C	69101871	3	2	94	1	0	0	0	0	1	0	0	0	16237	1763	61	4	1044	4	TMPRSS11B	4	69101871	Missense_Mutation	SNP	T	TCGA-EJ-7782-01A-11D-2114-08	11225254	69101871	122052405	129	4948											
FGF5	2250	broad.mit.edu	37	chr4	81207548	81207548	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gctataatacctatgcctcaGcaatacatagaactgaaaaa	18	9	5	9	0	1	2	1	1	0	1	1	2	1	2	2	0	5	2	2	0	10	6			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr4:81207548G>T	ENST00000312465.7	+	3	755	c.529G>T	c.(529-531)Gca>Tca	p.A177S	FGF5_ENST00000456523.3_3'UTR|FGF5_ENST00000503413.1_3'UTR	NM_004464.3	NP_004455.2	P12034	FGF5_HUMAN	fibroblast growth factor 5	177					cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glial cell differentiation (GO:0010001)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|signal transduction involved in regulation of gene expression (GO:0023019)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	fibroblast growth factor receptor binding (GO:0005104)			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	22						CTATGCCTCAGCAATACATAG	0.453																																						ENST00000312465.7																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	22						c.(529-531)Gca>Tca		fibroblast growth factor 5							110	124	119					4																	81207548		2203	4300	6503	SO:0001583	missense	2250				cell proliferation|cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|positive regulation of cell division|positive regulation of cell proliferation	extracellular space	fibroblast growth factor receptor binding|growth factor activity	g.chr4:81207548G>T	M23534	CCDS3586.1, CCDS34021.1	4q21	2014-01-30			ENSG00000138675	ENSG00000138675		"Endogenous ligands"	3683	protein-coding gene	gene with protein product		165190				3211147, 2577873	Standard	NM_001291812		Approved		uc003hmd.3	P12034	OTTHUMG00000130288	ENST00000312465.7:c.529G>T	4.37:g.81207548G>T	ENSP00000311697:p.Ala177Ser					FGF5_ENST00000456523.3_3'UTR|FGF5_ENST00000503413.1_3'UTR	p.A177S	NM_004464.3	NP_004455.2	P12034	FGF5_HUMAN			3	755	+			177					B2R554|O75846|Q3Y8M3|Q8NF90	Missense_Mutation	SNP	ENST00000312465.7	37	c.529G>T	CCDS34021.1	.	.	.	.	.	.	.	.	.	.	G	13.85	2.360356	0.41801	.	.	ENSG00000138675	ENST00000312465	D	0.81908	-1.55	5.82	5.82	0.92795	.	0.144362	0.64402	D	0.000007	T	0.81498	0.4835	L	0.41079	1.255	0.80722	D	1	P	0.41232	0.743	P	0.45946	0.498	T	0.75895	-0.3156	10	0.10636	T	0.68	.	20.0851	0.97797	0.0:0.0:1.0:0.0	.	177	P12034	FGF5_HUMAN	S	177	ENSP00000311697:A177S	ENSP00000311697:A177S	A	+	1	0	FGF5	81426572	1.000000	0.71417	0.970000	0.41538	0.008000	0.06430	7.895000	0.87343	2.758000	0.94735	0.650000	0.86243	GCA		0.453	FGF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252627.2			6	91	1	0	0.00198382	1	0.00201126	6	91					T	81207548	G	T	81207548	3	4	94	1	0	0	0	0	1	0	0	0	5855	971	34	5	539	5	FGF5	4	81207548	Missense_Mutation	SNP	G	TCGA-EJ-7782-01A-11D-2114-08	12105677	81207548	109946728	130	4949											
GPRIN3	285513	broad.mit.edu	37	chr4	90169157	90169157	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgcgattcccagggactctGcgtccaaggatgcaccatac	9	8	10	14	3	1	0	0	0	1	0	4	3	3	2	3	2	3	1	3	2	2	2			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr4:90169157G>C	ENST00000609438.1	-	2	2623	c.2105C>G	c.(2104-2106)gCa>gGa	p.A702G	GPRIN3_ENST00000333209.4_Missense_Mutation_p.A702G	NM_198281.2	NP_938022.2	Q6ZVF9	GRIN3_HUMAN	GPRIN family member 3	702										breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|prostate(2)|skin(1)	36		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;5.67e-05)		CAGGGACTCTGCGTCCAAGGA	0.502																																						ENST00000333209.3																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|prostate(2)|skin(1)	36						c.(2104-2106)gCa>gGa		GPRIN family member 3							72	69	70					4																	90169157		2203	4300	6503	SO:0001583	missense	285513							g.chr4:90169157G>C	AK124616	CCDS34030.1	4q22.1	2006-08-24				ENSG00000185477			27733	protein-coding gene	gene with protein product		611241				15488195	Standard	NM_198281		Approved	GRIN3, FLJ42625	uc003hsm.1	Q6ZVF9		ENST00000609438.1:c.2105C>G	4.37:g.90169157G>C	ENSP00000476603:p.Ala702Gly						p.A702G	NM_198281.2	NP_938022.2	Q6ZVF9	GRIN3_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;5.67e-05)	2	2623	-		Hepatocellular(203;0.114)	702					Q8IVE4	Missense_Mutation	SNP	ENST00000609438.1	37	c.2105C>G	CCDS34030.1	.	.	.	.	.	.	.	.	.	.	G	14.85	2.659069	0.47467	.	.	ENSG00000185477	ENST00000333209	T	0.24538	1.85	5.12	5.12	0.69794	.	0.248643	0.21192	N	0.078633	T	0.18676	0.0448	N	0.14661	0.345	0.39830	D	0.972961	B	0.29805	0.257	B	0.25614	0.062	T	0.10245	-1.0638	10	0.59425	D	0.04	-8.5156	18.7493	0.91807	0.0:0.0:1.0:0.0	.	702	Q6ZVF9	GRIN3_HUMAN	G	702	ENSP00000328672:A702G	ENSP00000328672:A702G	A	-	2	0	GPRIN3	90388180	1.000000	0.71417	0.958000	0.39756	0.167000	0.22549	6.231000	0.72307	2.654000	0.90174	0.655000	0.94253	GCA		0.502	GPRIN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363540.2	NM_198281		6	35	0	0	0	1	0	6	35					C	90169157	G	C	90169157	3	2	94	1	0	0	0	0	1	0	0	0	6731	1319	46	5	229	5	GPRIN3	4	90169157	Missense_Mutation	SNP	G	TCGA-EJ-7782-01A-11D-2114-08	8961609	90169157	100985119	131	4950											
FAM190A	401145	broad.mit.edu	37	chr4	91645133	91645133	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcttactgaagagccagtGcctttcaaggtaaaaaacaa	15	9	7	10	0	2	2	1	1	1	1	2	2	2	2	3	1	4	1	3	1	7	3			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr4:91645133G>A	ENST00000509176.1	+	7	2289	c.2001G>A	c.(1999-2001)gtG>gtA	p.V667V	CCSER1_ENST00000333691.8_Silent_p.V667V|CCSER1_ENST00000432775.2_Silent_p.V667V|CCSER1_ENST00000504150.1_3'UTR	NM_001145065.1	NP_001138537.1	Q9C0I3	CCSE1_HUMAN	coiled-coil serine-rich protein 1	667																	AAGAGCCAGTGCCTTTCAAGG	0.343																																						ENST00000509176.1																			0											c.(1999-2001)gtG>gtA		coiled-coil serine-rich protein 1							28	25	26					4																	91645133		1826	4080	5906	SO:0001819	synonymous_variant	401145							g.chr4:91645133G>A		CCDS47099.1, CCDS47100.1	4q22.1	2012-12-03	2012-12-03	2012-12-03	ENSG00000184305	ENSG00000184305			29349	protein-coding gene	gene with protein product			"family with sequence similarity 190, member A"	FAM190A		11214970	Standard	NM_001145065		Approved	KIAA1680	uc003hsv.4	Q9C0I3	OTTHUMG00000160950	ENST00000509176.1:c.2001G>A	4.37:g.91645133G>A						CCSER1_ENST00000432775.2_Silent_p.V667V|CCSER1_ENST00000504150.1_3'UTR|CCSER1_ENST00000333691.8_Silent_p.V667V	p.V667V	NM_001145065.1	NP_001138537.1					7	2289	+								Q4W5M0|Q86V57	Silent	SNP	ENST00000509176.1	37	c.2001G>A	CCDS47099.1																																																																																				0.343	CCSER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363109.3	NM_001145065		3	8	0	0	0	1	0	3	8					A	91645133	G	A	91645133	2	1	94	1	0	0	0	0	0	0	0	1	5521	1306	46	3		3	FAM190A	4	91645133	Silent	SNP	G	TCGA-EJ-7782-01A-11D-2114-08	1475976	91645133	99509143	132	4951											
C4orf37	285555	broad.mit.edu	37	chr4	98633951	98633951	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agatttccttaaaacaggatTgtatgctgcaggacctgaga	13	11	10	7	0	0	2	0	1	0	2	1	5	1	4	2	2	3	3	2	2	3	4			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr4:98633951T>C	ENST00000295268.3	-	10	1308	c.1219A>G	c.(1219-1221)Aat>Gat	p.N407D	STPG2_ENST00000506482.1_5'UTR	NM_174952.2	NP_777612.1	Q8N412	STPG2_HUMAN	sperm-tail PG-rich repeat containing 2	407																	AAAACAGGATTGTATGCTGCA	0.348																																						ENST00000295268.3																			0											c.(1219-1221)Aat>Gat		sperm-tail PG-rich repeat containing 2							94	96	96					4																	98633951		2203	4300	6503	SO:0001583	missense	285555							g.chr4:98633951T>C	BC036870	CCDS3645.1	4q22.3-q23	2013-10-11	2012-07-30	2012-07-30	ENSG00000163116	ENSG00000163116			28712	protein-coding gene	gene with protein product			"chromosome 4 open reading frame 37"	C4orf37		23031811	Standard	NM_174952		Approved	MGC46496	uc003htt.2	Q8N412	OTTHUMG00000131009	ENST00000295268.3:c.1219A>G	4.37:g.98633951T>C	ENSP00000295268:p.Asn407Asp					STPG2_ENST00000506482.1_5'UTR	p.N407D	NM_174952.2	NP_777612.1					10	1308	-									Missense_Mutation	SNP	ENST00000295268.3	37	c.1219A>G	CCDS3645.1	.	.	.	.	.	.	.	.	.	.	T	0.560	-0.845677	0.02671	.	.	ENSG00000163116	ENST00000522676;ENST00000295268	T;T	0.44482	0.92;2.66	4.85	-0.914	0.10497	.	0.738198	0.12877	N	0.431808	T	0.20981	0.0505	N	0.17674	0.51	0.20196	N	0.999926	B	0.14438	0.01	B	0.16289	0.015	T	0.22626	-1.0211	10	0.16896	T	0.51	-15.5002	4.9319	0.13921	0.1283:0.3047:0.0:0.567	.	407	Q8N412	CD037_HUMAN	D	121;407	ENSP00000428346:N121D;ENSP00000295268:N407D	ENSP00000295268:N407D	N	-	1	0	C4orf37	98852974	1.000000	0.71417	0.330000	0.25442	0.141000	0.21300	1.242000	0.32755	0.008000	0.14787	-0.297000	0.09499	AAT		0.348	STPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253642.1	NM_174952		17	13	0	0	0	1	0	17	13					C	98633951	T	C	98633951	3	2	94	1	0	0	0	0	1	0	0	0	2267	1812	63	4	168	4	C4orf37	4	98633951	Missense_Mutation	SNP	T	TCGA-EJ-7782-01A-11D-2114-08	6988818	98633951	92520325	133	4952											
CENPE	1062	broad.mit.edu	37	chr4	104068648	104068648	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctttcttgaaatttttcattCaacctgagcctttccatttc	8	19	3	11	0	3	2	2	2	1	0	5	2	4	2	3	0	2	0	3	0	2	7			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr4:104068648C>T	ENST00000265148.3	-	29	4088	c.3999G>A	c.(3997-3999)ttG>ttA	p.L1333L	CENPE_ENST00000380026.3_Silent_p.L1308L	NM_001813.2	NP_001804.2	Q02224	CENPE_HUMAN	centromere protein E, 312kDa	1333					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|kinetochore assembly (GO:0051382)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic chromosome movement towards spindle pole (GO:0007079)|mitotic metaphase plate congression (GO:0007080)|multicellular organismal development (GO:0007275)|positive regulation of protein kinase activity (GO:0045860)|regulation of mitotic metaphase/anaphase transition (GO:0030071)	chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|condensed chromosome outer kinetochore (GO:0000940)|condensed chromosome, centromeric region (GO:0000779)|condensed nuclear chromosome kinetochore (GO:0000778)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|midbody (GO:0030496)|mitotic spindle midzone (GO:1990023)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|kinetochore binding (GO:0043515)|microtubule motor activity (GO:0003777)			NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3)	101				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)		ATTTTTCATTCAACCTGAGCC	0.373																																						ENST00000265148.3																			0				NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3)	101						c.(3997-3999)ttG>ttA		centromere protein E, 312kDa							175	166	169					4																	104068648		2203	4300	6503	SO:0001819	synonymous_variant	1062				blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity	condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle	ATP binding|kinetochore binding|microtubule motor activity	g.chr4:104068648C>T	Z15005	CCDS34042.1, CCDS68768.1	4q24-q25	2013-11-05	2002-08-29			ENSG00000138778		"Kinesins", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	1856	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 61"	117143	"centromere protein E (312kD)"			7851898	Standard	NM_001286734		Approved	KIF10, PPP1R61	uc003hxb.1	Q02224		ENST00000265148.3:c.3999G>A	4.37:g.104068648C>T						CENPE_ENST00000380026.3_Silent_p.L1308L	p.L1333L	NM_001813.2	NP_001804.2	Q02224	CENPE_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)	29	4088	-			1333					A6NKY9|A8K2U7|Q4LE75	Silent	SNP	ENST00000265148.3	37	c.3999G>A	CCDS34042.1																																																																																				0.373	CENPE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				25	20	0	0	0	1	0	25	20					T	104068648	C	T	104068648	2	4	94	1	0	0	0	0	0	0	0	1	3230	825	29	3		3	CENPE	4	104068648	Silent	SNP	C	TCGA-EJ-7782-01A-11D-2114-08	5434697	104068648	87085628	134	4953											
NPNT	255743	broad.mit.edu	37	chr4	106858224	106858224	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cacaggtgcatgaacacttaCggcagctacaagtgctactg	12	8	10	11	1	0	1	0	1	0	0	0	1	0	1	0	2	7	4	0	2	5	3			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr4:106858224C>T	ENST00000379987.2	+	4	540	c.324C>T	c.(322-324)taC>taT	p.Y108Y	NPNT_ENST00000453617.2_Silent_p.Y125Y|NPNT_ENST00000305572.8_Silent_p.Y108Y|NPNT_ENST00000513430.1_3'UTR|NPNT_ENST00000506666.1_Silent_p.Y138Y|NPNT_ENST00000514622.1_Silent_p.Y108Y|NPNT_ENST00000427316.2_Silent_p.Y138Y	NM_001033047.2	NP_001028219.1	Q6UXI9	NPNT_HUMAN	nephronectin	108	EGF-like 2; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cell-cell adhesion mediated by integrin (GO:0033631)|cell-matrix adhesion (GO:0007160)|cellular response to tumor necrosis factor (GO:0071356)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|pilomotor reflex (GO:0097195)|positive regulation of alkaline phosphatase activity (GO:0010694)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation (GO:2000721)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|ureteric bud development (GO:0001657)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|integrin alpha8-beta1 complex (GO:0034678)|proteinaceous extracellular matrix (GO:0005578)|smooth muscle contractile fiber (GO:0030485)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)			kidney(5)|large_intestine(2)|lung(10)|prostate(2)|skin(1)|urinary_tract(1)	21		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;5.41e-07)		TGAACACTTACGGCAGCTACA	0.448																																						ENST00000379987.2																			0				kidney(5)|large_intestine(2)|lung(10)|prostate(2)|skin(1)|urinary_tract(1)	21						c.(322-324)taC>taT		nephronectin							113	95	101					4																	106858224		2203	4300	6503	SO:0001819	synonymous_variant	255743				cell differentiation	membrane	calcium ion binding	g.chr4:106858224C>T		CCDS34046.1, CCDS54784.1, CCDS54785.1, CCDS54786.1, CCDS54787.1	4q25	2005-10-07							27405	protein-coding gene	gene with protein product		610306				15754038	Standard	NM_001033047		Approved	EGFL6L, POEM	uc011cfd.2	Q6UXI9		ENST00000379987.2:c.324C>T	4.37:g.106858224C>T						NPNT_ENST00000453617.2_Silent_p.Y125Y|NPNT_ENST00000514622.1_Silent_p.Y108Y|NPNT_ENST00000506666.1_Silent_p.Y138Y|NPNT_ENST00000513430.1_3'UTR|NPNT_ENST00000427316.2_Silent_p.Y138Y|NPNT_ENST00000305572.8_Silent_p.Y108Y	p.Y108Y	NM_001033047.2	NP_001028219.1	Q6UXI9	NPNT_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;5.41e-07)	4	540	+		Hepatocellular(203;0.217)	108			EGF-like 2; calcium-binding (Potential).		A6NFT9|A8K1W4|B4DIT4|B4DYK3|B4E2H7|B4E3H2|D6RCA1|E9PCK8|E9PCQ1|E9PE64|E9PF04	Silent	SNP	ENST00000379987.2	37	c.324C>T	CCDS34046.1	.	.	.	.	.	.	.	.	.	.	C	7.288	0.610517	0.14066	.	.	ENSG00000168743	ENST00000514837	.	.	.	5.05	-1.81	0.07882	.	.	.	.	.	T	0.58637	0.2136	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.56703	-0.7935	4	.	.	.	.	12.5725	0.56344	0.0:0.5093:0.0:0.4907	.	.	.	.	W	85	.	.	R	+	1	2	NPNT	107077673	0.001000	0.12720	0.162000	0.22713	0.928000	0.56348	-1.504000	0.02275	-0.313000	0.08728	-1.170000	0.01741	CGG		0.448	NPNT-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000364083.1	NM_198278		18	16	0	0	0	1	0	18	16					T	106858224	C	T	106858224	2	4	94	1	0	0	0	0	0	0	0	1	10590	547	19	1		1	NPNT	4	106858224	Silent	SNP	C	TCGA-EJ-7782-01A-11D-2114-08	2789576	106858224	84296052	135	4954											
CCDC109B	55013	broad.mit.edu	37	chr4	110608693	110608693	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taaagaatccctgaaacaggCgcgtcattctctctgtttgc	10	12	8	11	2	3	2	1	1	2	1	5	2	4	2	1	1	2	1	1	1	4	3			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr4:110608693C>T	ENST00000394650.4	+	8	1089	c.956C>T	c.(955-957)gCg>gTg	p.A319V	CASP6_ENST00000510324.1_5'Flank	NM_017918.4	NP_060388.2	Q9NWR8	MCUB_HUMAN	coiled-coil domain containing 109B	319					mitochondrial calcium ion homeostasis (GO:0051560)|mitochondrial calcium ion transport (GO:0006851)	calcium channel complex (GO:0034704)|integral component of mitochondrial inner membrane (GO:0031305)|intrinsic component of membrane (GO:0031224)|mitochondrion (GO:0005739)|uniplex complex (GO:1990246)	calcium channel inhibitor activity (GO:0019855)			breast(1)|endometrium(1)|kidney(4)|large_intestine(2)|lung(1)	9				OV - Ovarian serous cystadenocarcinoma(123;6.65e-06)		CTGAAACAGGCGCGTCATTCT	0.348																																						ENST00000394650.4																			0				breast(1)|endometrium(1)|kidney(4)|large_intestine(2)|lung(1)	9						c.(955-957)gCg>gTg		coiled-coil domain containing 109B							98	99	99					4																	110608693		2203	4300	6503	SO:0001583	missense	55013					integral to membrane		g.chr4:110608693C>T	BC002633	CCDS3683.2	4q25	2011-05-24			ENSG00000005059	ENSG00000005059			26076	protein-coding gene	gene with protein product						12477932	Standard	NM_017918		Approved	FLJ20647	uc011cfs.2	Q9NWR8	OTTHUMG00000161103	ENST00000394650.4:c.956C>T	4.37:g.110608693C>T	ENSP00000378145:p.Ala319Val						p.A319V	NM_017918.4	NP_060388.2	Q9NWR8	C109B_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;6.65e-06)	8	1089	+			319					A8K4Y3|Q6IAC1	Missense_Mutation	SNP	ENST00000394650.4	37	c.956C>T	CCDS3683.2	.	.	.	.	.	.	.	.	.	.	C	7.713	0.695583	0.15106	.	.	ENSG00000005059	ENST00000394650	T	0.20738	2.05	5.21	1.27	0.21489	.	0.261923	0.31358	N	0.007800	T	0.05547	0.0146	N	0.01352	-0.895	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.35101	-0.9802	10	0.23302	T	0.38	-5.4866	4.8697	0.13625	0.1357:0.149:0.0:0.7153	.	319	Q9NWR8	C109B_HUMAN	V	319	ENSP00000378145:A319V	ENSP00000378145:A319V	A	+	2	0	CCDC109B	110828142	0.830000	0.29337	0.002000	0.10522	0.022000	0.10575	2.327000	0.43858	0.049000	0.15920	-1.279000	0.01387	GCG		0.348	CCDC109B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254865.1	NM_017918		9	24	0	0	0	1	0	9	24					T	110608693	C	T	110608693	3	4	94	1	0	0	0	0	1	0	0	0	2745	768	27	1	986	1	CCDC109B	4	110608693	Missense_Mutation	SNP	C	TCGA-EJ-7782-01A-11D-2114-08	3750469	110608693	80545583	136	4955											
HHIP	64399	broad.mit.edu	37	chr4	145580838	145580838	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aggaggttgtgagtgggctgCggcagcccgttggtgccctg	4	9	19	9	2	0	1	0	1	0	0	0	2	0	2	2	5	3	4	2	5	0	2			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr4:145580838C>T	ENST00000296575.3	+	4	1334	c.679C>T	c.(679-681)Cgg>Tgg	p.R227W	HHIP-AS1_ENST00000512359.1_RNA|HHIP_ENST00000511314.1_3'UTR|HHIP_ENST00000434550.2_Missense_Mutation_p.R227W	NM_022475.2	NP_071920.1	Q96QV1	HHIP_HUMAN	hedgehog interacting protein	227					carbohydrate metabolic process (GO:0005975)|dorsal/ventral pattern formation (GO:0009953)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|negative regulation of signal transduction (GO:0009968)|negative regulation of smoothened signaling pathway (GO:0045879)|neuroblast proliferation (GO:0007405)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|skeletal system morphogenesis (GO:0048705)|smoothened signaling pathway (GO:0007224)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	hedgehog family protein binding (GO:0097108)|oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor (GO:0016901)|quinone binding (GO:0048038)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	33	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0185)		GAGTGGGCTGCGGCAGCCCGT	0.448																																						ENST00000296575.3																			0				central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	33						c.(679-681)Cgg>Tgg		hedgehog interacting protein							124	136	132					4																	145580838		2203	4300	6503	SO:0001583	missense	64399					cytoplasm|extracellular region	catalytic activity|protein binding|zinc ion binding	g.chr4:145580838C>T	AK024645	CCDS3762.1	4q31.21-q31.3	2008-08-29	2001-11-29		ENSG00000164161	ENSG00000164161			14866	protein-coding gene	gene with protein product		606178	"hedgehog-interacting protein"			11435703, 11731473	Standard	NM_022475		Approved	HIP, FLJ20992	uc003ijs.2	Q96QV1	OTTHUMG00000161428	ENST00000296575.3:c.679C>T	4.37:g.145580838C>T	ENSP00000296575:p.Arg227Trp					HHIP-AS1_ENST00000512359.1_RNA|HHIP_ENST00000511314.1_3'UTR|HHIP_ENST00000434550.2_Missense_Mutation_p.R227W	p.R227W	NM_022475.2	NP_071920.1	Q96QV1	HHIP_HUMAN		GBM - Glioblastoma multiforme(119;0.0185)	4	1334	+	all_hematologic(180;0.151)		227					Q6PK09|Q8NCI7|Q9BXK3|Q9H1J4|Q9H7E7	Missense_Mutation	SNP	ENST00000296575.3	37	c.679C>T	CCDS3762.1	.	.	.	.	.	.	.	.	.	.	C	19.33	3.806513	0.70682	.	.	ENSG00000164161	ENST00000296575;ENST00000434550	T;T	0.53423	2.72;0.62	5.54	4.61	0.57282	Soluble quinoprotein glucose/sorbosone dehydrogenase (1);Six-bladed beta-propeller, TolB-like (1);	0.094804	0.64402	D	0.000001	T	0.64875	0.2638	M	0.70595	2.14	0.53005	D	0.999965	D;D	0.89917	1.0;1.0	D;D	0.79108	0.992;0.985	T	0.67173	-0.5737	10	0.72032	D	0.01	-12.2996	11.0696	0.47995	0.4104:0.5896:0.0:0.0	.	227;227	Q96QV1;Q96QV1-2	HHIP_HUMAN;.	W	227	ENSP00000296575:R227W;ENSP00000408587:R227W	ENSP00000296575:R227W	R	+	1	2	HHIP	145800288	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	3.304000	0.51866	2.620000	0.88729	0.555000	0.69702	CGG		0.448	HHIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364887.2			12	132	0	0	0	1	0	12	132					T	145580838	C	T	145580838	3	4	94	1	0	0	0	0	1	0	0	0	7092	759	27	1	693	1	HHIP	4	145580838	Missense_Mutation	SNP	C	TCGA-EJ-7782-01A-11D-2114-08	34972145	145580838	45573438	137	4956											
OTUD4	54726	broad.mit.edu	37	chr4	146058591	146058591	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggcaacaaccatcaagtgtgCtgtcccctatggccatctcc	9	9	8	15	0	2	0	1	0	1	0	4	0	3	0	5	2	3	2	5	2	4	1			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr4:146058591C>T	ENST00000447906.2	-	21	3523	c.3336G>A	c.(3334-3336)caG>caA	p.Q1112Q	OTUD4_ENST00000454497.2_Silent_p.Q1047Q|OTUD4_ENST00000455611.2_Intron			Q01804	OTUD4_HUMAN	OTU deubiquitinase 4	1112					protein K48-linked deubiquitination (GO:0071108)		poly(A) RNA binding (GO:0044822)|ubiquitin-specific protease activity (GO:0004843)			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33	all_hematologic(180;0.151)					ATCAAGTGTGCTGTCCCCTAT	0.433																																						ENST00000454497.2																			0				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33						c.(3139-3141)caG>caA		OTU domain containing 4							147	140	142					4																	146058591		2203	4300	6503	SO:0001819	synonymous_variant	54726						protein binding	g.chr4:146058591C>T		CCDS3764.1, CCDS47139.1	4q31.21	2014-02-24	2014-02-24		ENSG00000164164	ENSG00000164164		"OTU domain containing"	24949	protein-coding gene	gene with protein product		611744	"OTU domain containing 4"			1475186, 12727813, 19996094	Standard	NM_001102653		Approved	HSHIN1, KIAA1046, DUBA6	uc003ika.4	Q01804	OTTHUMG00000161480	ENST00000447906.2:c.3336G>A	4.37:g.146058591C>T						OTUD4_ENST00000455611.2_Intron|OTUD4_ENST00000447906.2_Silent_p.Q1112Q	p.Q1047Q	NM_001102653.1	NP_001096123.1	Q01804	OTUD4_HUMAN			21	3278	-	all_hematologic(180;0.151)		1111					B4DYS4|Q147U2|Q1ZYK1|Q6PG39|Q96MQ5|Q9NT94|Q9UPV6	Silent	SNP	ENST00000447906.2	37	c.3141G>A																																																																																					0.433	OTUD4-004	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000365117.2	NM_017493		14	138	0	0	0	1	0	14	138					T	146058591	C	T	146058591	2	4	94	1	0	0	0	0	0	0	0	1	11314	796	28	3		3	OTUD4	4	146058591	Silent	SNP	C	TCGA-EJ-7782-01A-11D-2114-08	477753	146058591	45095685	138	4957											
NR3C2	4306	broad.mit.edu	37	chr4	149002640	149002640	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaagcagaattccagcaggTcgctcaccagctgtaacaca	14	6	9	12	1	1	2	1	0	0	2	3	2	2	2	2	1	4	5	2	1	3	2			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr4:149002640T>A	ENST00000358102.3	-	9	3172	c.2810A>T	c.(2809-2811)gAc>gTc	p.D937V	NR3C2_ENST00000344721.4_Missense_Mutation_p.D937V|NR3C2_ENST00000511528.1_Missense_Mutation_p.D941V|NR3C2_ENST00000355292.3_Missense_Mutation_p.D941V|NR3C2_ENST00000512865.1_Missense_Mutation_p.D820V	NM_000901.4|NM_001166104.1	NP_000892.2|NP_001159576.1	P08235	MCR_HUMAN	nuclear receptor subfamily 3, group C, member 2	937	Steroid-binding.				gene expression (GO:0010467)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|receptor complex (GO:0043235)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0614)	Drospirenone(DB01395)|Eplerenone(DB00700)|Felodipine(DB01023)|Fludrocortisone(DB00687)|Fluticasone Propionate(DB00588)|Nimodipine(DB00393)|Progesterone(DB00396)|Spironolactone(DB00421)	TTCCAGCAGGTCGCTCACCAG	0.572																																					Melanoma(27;428 957 40335 51025 51111)	ENST00000355292.3																			0				breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41						c.(2821-2823)gAc>gTc		nuclear receptor subfamily 3, group C, member 2	Desoxycorticosterone Pivalate(DB01134)|Eplerenone(DB00700)|Fludrocortisone(DB00687)|Spironolactone(DB00421)						48	47	47					4																	149002640		2203	4300	6503	SO:0001583	missense	0				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	endoplasmic reticulum membrane|nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding	g.chr4:149002640T>A	M16801	CCDS3772.1, CCDS54811.1	4q31	2013-01-16			ENSG00000151623	ENSG00000151623		"Nuclear hormone receptors"	7979	protein-coding gene	gene with protein product		600983		MLR		2558856	Standard	NM_000901		Approved	MR	uc003ilj.4	P08235	OTTHUMG00000161455	ENST00000358102.3:c.2810A>T	4.37:g.149002640T>A	ENSP00000350815:p.Asp937Val					NR3C2_ENST00000512865.1_Missense_Mutation_p.D820V|NR3C2_ENST00000344721.4_Missense_Mutation_p.D937V|NR3C2_ENST00000342437.4_3'UTR|NR3C2_ENST00000511528.1_Missense_Mutation_p.D941V|NR3C2_ENST00000358102.3_Missense_Mutation_p.D937V	p.D941V			P08235	MCR_HUMAN		GBM - Glioblastoma multiforme(119;0.0614)	9	3184	-	all_hematologic(180;0.151)		937			Steroid-binding.		B0ZBF5|B0ZBF7|Q2NKL1|Q96KQ8|Q96KQ9	Missense_Mutation	SNP	ENST00000358102.3	37	c.2822A>T	CCDS3772.1	.	.	.	.	.	.	.	.	.	.	T	19.18	3.777759	0.70107	.	.	ENSG00000151623	ENST00000344721;ENST00000355292;ENST00000358102;ENST00000512865;ENST00000511528	D;D;D;D;D	0.95377	-3.69;-3.69;-3.69;-3.69;-3.69	5.92	5.92	0.95590	.	0.102279	0.64402	D	0.000002	D	0.95030	0.8391	L	0.36672	1.1	0.80722	D	1	D;D	0.60575	0.988;0.962	P;P	0.54965	0.765;0.662	D	0.94326	0.7558	9	.	.	.	.	16.3636	0.83296	0.0:0.0:0.0:1.0	.	820;937	B0ZBF5;B0ZBF6	.;.	V	937;941;937;820;941	ENSP00000341390:D937V;ENSP00000347441:D941V;ENSP00000350815:D937V;ENSP00000423510:D820V;ENSP00000421481:D941V	.	D	-	2	0	NR3C2	149222090	1.000000	0.71417	0.993000	0.49108	0.929000	0.56500	4.602000	0.61098	2.267000	0.75376	0.528000	0.53228	GAC		0.572	NR3C2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364986.1			17	29	0	0	0	1	0	17	29					A	149002640	T	A	149002640	3	1	94	1	0	0	0	0	1	0	0	0	10631	1667	58	5	148	5	NR3C2	4	149002640	Missense_Mutation	SNP	T	TCGA-EJ-7782-01A-11D-2114-08	2944049	149002640	42151636	139	4958											
SH3D19	152503	broad.mit.edu	37	chr4	152053535	152053535	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ttttcagtggtacctttgtgCctacattaaaaaaacaaaca	15	13	5	8	0	1	0	1	0	0	0	1	0	1	0	2	1	5	1	2	1	7	6			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr4:152053535C>T	ENST00000409252.2	-	17	2626	c.1919G>A	c.(1918-1920)aGc>aAc	p.S640N	SH3D19_ENST00000427414.2_Splice_Site_p.S581N|SH3D19_ENST00000424281.1_Splice_Site_p.S581N|SH3D19_ENST00000514152.1_Splice_Site_p.S617N|SH3D19_ENST00000304527.4_Splice_Site_p.S640N|SH3D19_ENST00000409598.4_Splice_Site_p.S617N|SH3D19_ENST00000455740.1_Splice_Site_p.S617N			Q5HYK7	SH319_HUMAN	SH3 domain containing 19	640					cytoskeleton organization (GO:0007010)|membrane organization (GO:0061024)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of cell morphogenesis (GO:0022604)	cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	proline-rich region binding (GO:0070064)			autonomic_ganglia(1)|endometrium(1)|large_intestine(3)|lung(10)|ovary(1)|skin(3)|urinary_tract(1)	20	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.138)				TACCTTTGTGCCTACATTAAA	0.408																																						ENST00000409598.4																			0				autonomic_ganglia(1)|endometrium(1)|large_intestine(3)|lung(10)|ovary(1)|skin(3)|urinary_tract(1)	20						c.e17-1		SH3 domain containing 19							102	88	93					4																	152053535		2203	4300	6503	SO:0001630	splice_region_variant	152503				cellular membrane organization|positive regulation of membrane protein ectodomain proteolysis|post-Golgi vesicle-mediated transport	cytosol|Golgi apparatus|nucleus|plasma membrane	proline-rich region binding	g.chr4:152053535C>T	BX647422	CCDS34077.2, CCDS47143.1, CCDS47144.1	4q31.3	2009-03-05	2009-03-05	2009-03-05	ENSG00000109686	ENSG00000109686			30418	protein-coding gene	gene with protein product	"EEN binding protein"	608674				12477932	Standard	NM_001009555		Approved	DKFZp434D0215, EVE1, EBP, Kryn, SH3P19	uc010ipl.1	Q5HYK7	OTTHUMG00000154051	ENST00000409252.2:c.1919-1G>A	4.37:g.152053535C>T						SH3D19_ENST00000304527.4_Splice_Site_p.S640_splice|SH3D19_ENST00000455740.1_Splice_Site_p.S617_splice|SH3D19_ENST00000424281.1_Splice_Site_p.S581_splice|SH3D19_ENST00000409252.2_Splice_Site_p.S640_splice|SH3D19_ENST00000514152.1_Splice_Site_p.S617_splice|SH3D19_ENST00000427414.2_Splice_Site_p.S581_splice	p.S617_splice			Q5HYK7	SH319_HUMAN			17	3017	-	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.138)	640			SH3 3.		B7Z296|Q08EK1|Q32N10|Q5U3B8|Q86XB3|Q8N5E7|Q9UFC8	Splice_Site	SNP	ENST00000409252.2	37	c.1849_splice	CCDS34077.2	.	.	.	.	.	.	.	.	.	.	C	15.13	2.740784	0.49151	.	.	ENSG00000109686	ENST00000409598;ENST00000304527;ENST00000455740;ENST00000424281;ENST00000427414;ENST00000409252;ENST00000514152	T;T;T;T;T;T;T	0.70399	-0.48;0.13;-0.48;-0.47;-0.47;0.13;-0.48	5.07	4.23	0.50019	.	1.129920	0.06599	N	0.753523	T	0.70859	0.3272	M	0.65975	2.015	0.36514	D	0.869758	B;B;B;B	0.25609	0.027;0.074;0.13;0.083	B;B;B;B	0.25884	0.027;0.022;0.064;0.025	T	0.63079	-0.6717	10	0.42905	T	0.14	.	10.9306	0.47215	0.0:0.9142:0.0:0.0858	.	640;617;581;395	Q5HYK7;Q5HYK7-2;Q5HYK7-3;B3KY23	SH319_HUMAN;.;.;.	N	617;640;617;581;581;640;617	ENSP00000387030:S617N;ENSP00000302913:S640N;ENSP00000416708:S617N;ENSP00000404542:S581N;ENSP00000415694:S581N;ENSP00000386848:S640N;ENSP00000423449:S617N	ENSP00000302913:S640N	S	-	2	0	SH3D19	152272985	0.996000	0.38824	0.998000	0.56505	0.993000	0.82548	0.474000	0.22148	1.370000	0.46153	0.655000	0.94253	AGC		0.408	SH3D19-002	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000335132.3	NM_001009555	Missense_Mutation	3	25	0	0	0	1	0	3	25					T	152053535	C	T	152053535	5	4	94	1	0	0	0	0	0	0	1	0	14249	753	26	3	469	3	SH3D19	4	152053535	Splice_Site	SNP	C	TCGA-EJ-7782-01A-11D-2114-08	3050895	152053535	39100741	140	4959											
DDX60L	91351	broad.mit.edu	37	chr4	169340497	169340497	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cctttccacccatttttggcGatgaggagcaagcaacagga	11	9	10	11	1	0	1	0	1	0	0	1	4	1	3	3	3	3	2	3	3	2	3	rs570199575		TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr4:169340497G>A	ENST00000511577.1	-	19	2813	c.2566C>T	c.(2566-2568)Cgc>Tgc	p.R856C	DDX60L_ENST00000260184.7_Missense_Mutation_p.R856C|DDX60L_ENST00000505890.1_Missense_Mutation_p.R856C			Q5H9U9	DDX6L_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like	856	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.						ATP binding (GO:0005524)|helicase activity (GO:0004386)|RNA binding (GO:0003723)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.175)		CATTTTTGGCGATGAGGAGCA	0.363																																						ENST00000511577.1																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43						c.(2566-2568)Cgc>Tgc		DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like							60	60	60					4																	169340497		2192	4300	6492	SO:0001583	missense	91351						ATP binding|ATP-dependent helicase activity|RNA binding	g.chr4:169340497G>A	AK092461	CCDS47161.1	4q32.3	2008-01-08				ENSG00000181381			26429	protein-coding gene	gene with protein product							Standard	XM_005263341		Approved	FLJ31033	uc003irq.4	Q5H9U9		ENST00000511577.1:c.2566C>T	4.37:g.169340497G>A	ENSP00000422423:p.Arg856Cys					DDX60L_ENST00000505890.1_Missense_Mutation_p.R856C|DDX60L_ENST00000260184.7_Missense_Mutation_p.R856C	p.R856C			Q5H9U9	DDX6L_HUMAN		GBM - Glioblastoma multiforme(119;0.175)	19	2813	-		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)	856			Helicase ATP-binding.		Q96ND6	Missense_Mutation	SNP	ENST00000511577.1	37	c.2566C>T		.	.	.	.	.	.	.	.	.	.	G	12.73	2.026632	0.35797	.	.	ENSG00000181381	ENST00000260184;ENST00000511577;ENST00000505890	T;T;T	0.72167	-0.63;-0.63;2.4	3.49	-0.182	0.13287	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.393779	0.18245	N	0.147129	T	0.58878	0.2153	M	0.64997	1.995	0.23023	N	0.998413	B;B	0.31227	0.103;0.314	B;B	0.28139	0.058;0.086	T	0.48103	-0.9064	10	0.39692	T	0.17	.	4.2202	0.10554	0.2143:0.0:0.4977:0.288	.	856;856	D6R906;Q5H9U9	.;DDX6L_HUMAN	C	856	ENSP00000260184:R856C;ENSP00000422423:R856C;ENSP00000422202:R856C	ENSP00000260184:R856C	R	-	1	0	DDX60L	169577072	0.136000	0.22515	0.001000	0.08648	0.675000	0.39556	0.338000	0.19858	-0.419000	0.07439	0.467000	0.42956	CGC		0.363	DDX60L-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000364839.1	NM_001012967		5	2	0	0	0	1	0	5	2					A	169340497	G	A	169340497	3	1	94	1	0	0	0	0	1	0	0	0	4379	1058	37	2	2634	2	DDX60L	4	169340497	Missense_Mutation	SNP	G	TCGA-EJ-7782-01A-11D-2114-08	17286962	169340497	21813779	141	4960											
SLC12A7	10723	broad.mit.edu	37	chr5	1083970	1083970	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gggagccgttgcagaagaggCcccagagcgcggaggtggct	8	4	19	10	3	0	3	0	0	0	3	0	5	0	5	3	5	3	3	3	5	1	1			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr5:1083970C>T	ENST00000264930.5	-	8	1062	c.1019G>A	c.(1018-1020)gGc>gAc	p.G340D		NM_006598.2	NP_006589.2	Q9Y666	S12A7_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 7	340					cell volume homeostasis (GO:0006884)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|potassium ion transport (GO:0006813)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	32	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09)		Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165)		Potassium Chloride(DB00761)	GCAGAAGAGGCCCCAGAGCGC	0.652																																						ENST00000264930.5																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	32						c.(1018-1020)gGc>gAc		solute carrier family 12 (potassium/chloride transporter), member 7	Potassium Chloride(DB00761)						85	77	80					5																	1083970		2201	4300	6501	SO:0001583	missense	10723				potassium ion transport|sodium ion transport	integral to plasma membrane	potassium:chloride symporter activity	g.chr5:1083970C>T	AF105365	CCDS34129.1	5p15	2013-07-18	2013-07-18		ENSG00000113504	ENSG00000113504		"Solute carriers"	10915	protein-coding gene	gene with protein product		604879				10347194	Standard	NM_006598		Approved	KCC4, DKFZP434F076	uc003jbu.3	Q9Y666	OTTHUMG00000161931	ENST00000264930.5:c.1019G>A	5.37:g.1083970C>T	ENSP00000264930:p.Gly340Asp						p.G340D	NM_006598.2	NP_006589.2	Q9Y666	S12A7_HUMAN	Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165)		8	1062	-	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09)		340					A6NDS8|Q4G0F3|Q96I81|Q9H7I3|Q9H7I7|Q9UFW2	Missense_Mutation	SNP	ENST00000264930.5	37	c.1019G>A	CCDS34129.1	.	.	.	.	.	.	.	.	.	.	C	3.663	-0.069205	0.07228	.	.	ENSG00000113504	ENST00000264930	T	0.62498	0.02	3.67	2.47	0.30058	.	1.918370	0.01715	N	0.027955	T	0.39009	0.1062	N	0.12961	0.28	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.45234	-0.9275	10	0.07325	T	0.83	.	0.8342	0.01137	0.2264:0.3761:0.2203:0.1772	.	340	Q9Y666	S12A7_HUMAN	D	340	ENSP00000264930:G340D	ENSP00000264930:G340D	G	-	2	0	SLC12A7	1136970	0.000000	0.05858	0.998000	0.56505	0.647000	0.38526	-1.350000	0.02624	1.763000	0.52060	0.471000	0.43371	GGC		0.652	SLC12A7-001	KNOWN	non_canonical_TEC|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366446.2	NM_006598		11	23	0	0	0	1	0	11	23					T	1083970	C	T	1083970	3	4	94	1	0	0	0	0	1	0	0	0	14388	739	26	3	2300	3	SLC12A7	5	1083970	Missense_Mutation	SNP	C	TCGA-EJ-7782-01A-11D-2114-08		1083970	179831290	142	4961											
SLC6A3	6531	broad.mit.edu	37	chr5	1422012	1422012	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttccctgaggtcttcacgccCttccagaggctgaagtagag	8	10	11	12	1	2	4	1	2	1	2	4	4	4	4	3	2	0	2	3	2	2	4			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr5:1422012C>A	ENST00000270349.9	-	5	898	c.771G>T	c.(769-771)aaG>aaT	p.K257N	SLC6A3_ENST00000453492.2_Missense_Mutation_p.K257N	NM_001044.4	NP_001035.1	Q01959	SC6A3_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 3	257					adenohypophysis development (GO:0021984)|aging (GO:0007568)|cation transmembrane transport (GO:0098655)|cell death (GO:0008219)|dopamine biosynthetic process (GO:0042416)|dopamine catabolic process (GO:0042420)|dopamine transport (GO:0015872)|lactation (GO:0007595)|locomotory behavior (GO:0007626)|monoamine transport (GO:0015844)|neurotransmitter biosynthetic process (GO:0042136)|positive regulation of multicellular organism growth (GO:0040018)|prepulse inhibition (GO:0060134)|regulation of dopamine metabolic process (GO:0042053)|response to cAMP (GO:0051591)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to iron ion (GO:0010039)|response to nicotine (GO:0035094)|sensory perception of smell (GO:0007608)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	axon (GO:0030424)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	dopamine binding (GO:0035240)|dopamine transmembrane transporter activity (GO:0005329)|dopamine:sodium symporter activity (GO:0005330)|drug binding (GO:0008144)|monoamine transmembrane transporter activity (GO:0008504)			breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(19)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38			OV - Ovarian serous cystadenocarcinoma(19;0.00928)|all cancers(22;0.0262)		Amoxapine(DB00543)|Amphetamine(DB00182)|Atomoxetine(DB00289)|Benzatropine(DB00245)|Benzphetamine(DB00865)|Bupropion(DB01156)|Chloroprocaine(DB01161)|Chlorphenamine(DB01114)|Citalopram(DB00215)|Cocaine(DB00907)|Dexmethylphenidate(DB06701)|Dextroamphetamine(DB01576)|Diethylpropion(DB00937)|Diphenylpyraline(DB01146)|Dopamine(DB00988)|Duloxetine(DB00476)|Ephedra(DB01363)|Escitalopram(DB01175)|Fencamfamine(DB01463)|Imipramine(DB00458)|Ioflupane I 123(DB08824)|Lisdexamfetamine(DB01255)|Loxapine(DB00408)|Mazindol(DB00579)|Methamphetamine(DB01577)|Methylphenidate(DB00422)|Mianserin(DB06148)|Mirtazapine(DB00370)|Modafinil(DB00745)|Nefazodone(DB01149)|Pethidine(DB00454)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Procaine(DB00721)|Pseudoephedrine(DB00852)|Sertraline(DB01104)|Sibutramine(DB01105)|Trimipramine(DB00726)|Venlafaxine(DB00285)	TCTTCACGCCCTTCCAGAGGC	0.637																																						ENST00000270349.9																			0				breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(19)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38						c.(769-771)aaG>aaT		solute carrier family 6 (neurotransmitter transporter), member 3	Amphetamine(DB00182)|Benztropine(DB00245)|Bupropion(DB01156)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dextroamphetamine(DB01576)|Diethylpropion(DB00937)|Duloxetine(DB00476)|Fencamfamine(DB01463)|Mazindol(DB00579)|Methylphenidate(DB00422)|Modafinil(DB00745)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Procaine(DB00721)						111	95	100					5																	1422012		2203	4300	6503	SO:0001583	missense	6531				cell death|neurotransmitter biosynthetic process	axon|cytoplasm|integral to plasma membrane|neuronal cell body		g.chr5:1422012C>A		CCDS3863.1	5p15.3	2013-07-19	2013-07-19		ENSG00000142319	ENSG00000142319		"Solute carriers"	11049	protein-coding gene	gene with protein product	"dopamine transporter"	126455	"solute carrier family 6 (neurotransmitter transporter, dopamine), member 3", "dopamine transporter 1"	DAT1		1406597	Standard	NM_001044		Approved	DAT	uc003jck.3	Q01959	OTTHUMG00000131016	ENST00000270349.9:c.771G>T	5.37:g.1422012C>A	ENSP00000270349:p.Lys257Asn					SLC6A3_ENST00000453492.2_Missense_Mutation_p.K257N	p.K257N	NM_001044.4	NP_001035.1	Q01959	SC6A3_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;0.00928)|all cancers(22;0.0262)		5	898	-			257					A2RUN4|Q14996	Missense_Mutation	SNP	ENST00000270349.9	37	c.771G>T	CCDS3863.1	.	.	.	.	.	.	.	.	.	.	C	15.02	2.709582	0.48517	.	.	ENSG00000142319	ENST00000270349;ENST00000453492;ENST00000513308	T;T;T	0.80909	-1.43;-1.43;-1.43	4.4	2.13	0.27403	.	0.110904	0.64402	D	0.000013	D	0.87485	0.6189	M	0.82923	2.615	0.46849	D	0.999224	D	0.89917	1.0	D	0.81914	0.995	D	0.86374	0.1725	10	0.87932	D	0	.	6.8239	0.23872	0.0:0.7116:0.0:0.2884	.	257	Q01959	SC6A3_HUMAN	N	257;257;183	ENSP00000270349:K257N;ENSP00000399806:K257N;ENSP00000429101:K183N	ENSP00000270349:K257N	K	-	3	2	SLC6A3	1475012	0.995000	0.38212	0.998000	0.56505	0.477000	0.33069	0.317000	0.19487	0.960000	0.38005	0.462000	0.41574	AAG		0.637	SLC6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253650.3	NM_001044		15	56	1	0	2.32078e-09	1	2.44972e-09	15	56					A	1422012	C	A	1422012	3	1	94	1	0	0	0	0	1	0	0	0	14685	680	24	5	1135	5	SLC6A3	5	1422012	Missense_Mutation	SNP	C	TCGA-EJ-7782-01A-11D-2114-08	338042	1422012	179493248	143	4962											
ADAMTS16	170690	broad.mit.edu	37	chr5	5239963	5239963	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aaattttcgggcactactttCgactacagacggtcctataa	12	12	7	10	3	0	1	0	0	0	1	3	2	1	1	1	2	2	1	1	2	5	7			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr5:5239963C>T	ENST00000274181.7	+	16	2586	c.2448C>T	c.(2446-2448)ttC>ttT	p.F816F		NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	816	Spacer.				branching involved in ureteric bud morphogenesis (GO:0001658)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						GCACTACTTTCGACTACAGAC	0.517																																						ENST00000274181.7																			0				breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						c.(2446-2448)ttC>ttT		ADAM metallopeptidase with thrombospondin type 1 motif, 16							98	96	97					5																	5239963		1866	4098	5964	SO:0001819	synonymous_variant	170690				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:5239963C>T	AJ315734	CCDS43299.1	5p15	2008-07-18	2005-08-19		ENSG00000145536	ENSG00000145536		"ADAM metallopeptidases with thrombospondin type 1 motif"	17108	protein-coding gene	gene with protein product		607510	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 16"			11867212	Standard	NM_139056		Approved	ADAMTS16s	uc003jdl.3	Q8TE57	OTTHUMG00000161663	ENST00000274181.7:c.2448C>T	5.37:g.5239963C>T							p.F816F	NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN			16	2586	+			816			Spacer.		C6G490|Q8IVE2	Silent	SNP	ENST00000274181.7	37	c.2448C>T	CCDS43299.1																																																																																				0.517	ADAMTS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365657.1	NM_139056		15	71	0	0	0	1	0	15	71					T	5239963	C	T	5239963	2	4	94	1	0	0	0	0	0	0	0	1	261	883	31	2		2	ADAMTS16	5	5239963	Silent	SNP	C	TCGA-EJ-7782-01A-11D-2114-08	3817951	5239963	175675297	144	4963											
PDZD2	23037	broad.mit.edu	37	chr5	32090466	32090466	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atcatttcagtccaggagacGagctgcctagtcacagacaa	13	8	9	11	1	3	2	3	0	0	2	4	4	4	2	2	1	2	1	2	1	2	2			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr5:32090466G>A	ENST00000438447.1	+	20	7300	c.6912G>A	c.(6910-6912)acG>acA	p.T2304T	PDZD2_ENST00000282493.3_Silent_p.T2304T			O15018	PDZD2_HUMAN	PDZ domain containing 2	2304					cell adhesion (GO:0007155)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|nucleus (GO:0005634)				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						TCCAGGAGACGAGCTGCCTAG	0.483																																						ENST00000438447.1																			0				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						c.(6910-6912)acG>acA		PDZ domain containing 2							99	100	100					5																	32090466		2203	4300	6503	SO:0001819	synonymous_variant	23037				cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus		g.chr5:32090466G>A	AB002298	CCDS34137.1	5p14.1	2008-02-05	2006-01-24	2006-01-24		ENSG00000133401			18486	protein-coding gene	gene with protein product		610697	"PDZ domain containing 3"	PDZK3		9205841	Standard	XM_005248271		Approved	KIAA0300	uc003jhm.3	O15018		ENST00000438447.1:c.6912G>A	5.37:g.32090466G>A						PDZD2_ENST00000282493.3_Silent_p.T2304T	p.T2304T			O15018	PDZD2_HUMAN			20	7300	+			2304					Q9BXD4	Silent	SNP	ENST00000438447.1	37	c.6912G>A	CCDS34137.1																																																																																				0.483	PDZD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366608.1			6	94	0	0	0	1	0	6	94					A	32090466	G	A	32090466	2	1	94	1	0	0	0	0	0	0	0	1	11701	1045	37	2		2	PDZD2	5	32090466	Silent	SNP	G	TCGA-EJ-7782-01A-11D-2114-08	26850503	32090466	148824794	145	4964											
MGC42105	167359	broad.mit.edu	37	chr5	43280399	43280399	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acatacagtgtaccgccgcaCgtgtcagagccctgccaccg	9	6	10	16	4	1	1	1	0	0	1	1	1	1	1	5	0	4	2	5	0	2	2			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr5:43280399C>T	ENST00000512796.1	+	4	2378	c.879C>T	c.(877-879)caC>caT	p.H293H	NIM1_ENST00000326035.2_Silent_p.H293H			Q8IY84	NIM1_HUMAN		293	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				protein phosphorylation (GO:0006468)		ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)										TACCGCCGCACGTGTCAGAGC	0.532																																						ENST00000512796.1																			0											c.(877-879)caC>caT									82	71	75					5																	43280399		2203	4300	6503	SO:0001819	synonymous_variant	0						ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr5:43280399C>T																												ENST00000512796.1:c.879C>T	5.37:g.43280399C>T						NIM1_ENST00000326035.2_Silent_p.H293H	p.H293H			Q8IY84	NIM1_HUMAN			4	2378	+			293			Protein kinase.		B3KVM1	Silent	SNP	ENST00000512796.1	37	c.879C>T	CCDS3943.1																																																																																				0.532	NIM1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368017.1			7	61	0	0	0	1	0	7	61					T	43280399	C	T	43280399	2	4	94	1	0	0	0	0	0	0	0	1	9552	535	19	1		1	MGC42105	5	43280399	Silent	SNP	C	TCGA-EJ-7782-01A-11D-2114-08	11189933	43280399	137634861	146	4965											
KIF2A	3796	broad.mit.edu	37	chr5	61677057	61677057	+	Frame_Shift_Del	DEL	T	T	-																															agctattcttgagcaaaaaaTagacattttaactgaactgc																										TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr5:61677057delT	ENST00000401507.3	+	19	2323	c.2012delT	c.(2011-2013)atafs	p.I671fs	KIF2A_ENST00000407818.3_Frame_Shift_Del_p.I709fs|KIF2A_ENST00000506857.1_Frame_Shift_Del_p.I625fs|KIF2A_ENST00000381103.2_Frame_Shift_Del_p.I651fs|KIF2A_ENST00000509663.2_Intron	NM_001243953.1|NM_004520.4	NP_001230882.1|NP_004511.2	O00139	KIF2A_HUMAN	kinesin heavy chain member 2A	671					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle organization (GO:0007052)|nervous system development (GO:0007399)	centrosome (GO:0005813)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(3)|ovary(1)|skin(1)	15		Lung NSC(810;8.94e-06)|Prostate(74;0.0132)|Ovarian(174;0.051)|Breast(144;0.077)		Lung(70;0.14)		GAGCAAAAAATAGACATTTTA	0.348																																						ENST00000381103.2																			0				NS(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(3)|ovary(1)|skin(1)	15						c.(1951-1953)aafs		kinesin heavy chain member 2A							179	195	190					5																	61677057		2203	4300	6503	SO:0001589	frameshift_variant	3796				blood coagulation|cell differentiation|cell division|microtubule-based movement|mitotic prometaphase|mitotic spindle organization|nervous system development	centrosome|cytosol|microtubule|spindle pole	ATP binding|microtubule motor activity|protein binding	g.chr5:61677057delT	BC031828	CCDS3980.2, CCDS47216.1, CCDS58949.1	5q12-q13	2008-02-05	2006-09-26	2006-09-26	ENSG00000068796	ENSG00000068796		"Kinesins"	6318	protein-coding gene	gene with protein product		602591	"kinesin heavy chain member 2"	KIF2		9177777	Standard	NM_001098511		Approved	HK2	uc003jsz.4	O00139	OTTHUMG00000097755	ENST00000401507.3:c.2012delT	5.37:g.61677057delT	ENSP00000385622:p.Ile671fs					KIF2A_ENST00000509663.2_Intron|KIF2A_ENST00000407818.3_Frame_Shift_Del_p.I709fs|KIF2A_ENST00000401507.3_Frame_Shift_Del_p.I671fs|KIF2A_ENST00000506857.1_Frame_Shift_Del_p.I625fs	p.I651fs	NM_001243952.1	NP_001230881.1	O00139	KIF2A_HUMAN		Lung(70;0.14)	20	2437	+		Lung NSC(810;8.94e-06)|Prostate(74;0.0132)|Ovarian(174;0.051)|Breast(144;0.077)	671					A5YM42|A5YM54|B4DY54|D3DW97|E9PB70|Q7Z5I3|Q8N5Q7	Frame_Shift_Del	DEL	ENST00000401507.3	37	c.1952delT	CCDS3980.2																																																																																				0.348	KIF2A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317989.1	NM_004520		49	101						49	101	---	---	---	---	-	61677057	T	-	61677057	7	5	94	1	0	1	0	1	0	0	0	0	8297	1406	49	0	2204	0	KIF2A	5	61677057	Frame_Shift_Del	DEL	T	TCGA-EJ-7782-01A-11D-2114-08	18396658	61677057	119238203	147	4966											
ADAMTS6	11174	broad.mit.edu	37	chr5	64629882	64629882	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aacttacccagtgttccacaGggcttatttttataagtgca	11	14	7	9	0	0	0	0	0	0	0	1	0	1	0	2	1	3	3	2	1	5	7			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr5:64629882G>T	ENST00000536360.1	-	8	1917	c.1104C>A	c.(1102-1104)ccC>ccA	p.P368P				Q9UKP5	ATS6_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 6	368	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.					proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|skin(3)	18		Lung NSC(167;2.44e-06)|Prostate(74;0.014)|Ovarian(174;0.0549)|Breast(144;0.111)|Colorectal(97;0.235)		Lung(70;0.00942)		GTGTTCCACAGGGCTTATTTT	0.264																																						ENST00000536360.1																			0				breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|skin(3)	18						c.(1102-1104)ccC>ccA		ADAM metallopeptidase with thrombospondin type 1 motif, 6							50	55	53					5																	64629882		2200	4298	6498	SO:0001819	synonymous_variant	11174				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:64629882G>T	AF140674	CCDS3983.2	5q13	2008-07-18	2005-08-19		ENSG00000049192	ENSG00000049192		"ADAM metallopeptidases with thrombospondin type 1 motif"	222	protein-coding gene	gene with protein product	"a disintegrin and metalloproteinase with thrombospondin motifs 6"	605008	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 6"			10464288	Standard	NM_197941		Approved	ADAM-TS6	uc003jtp.3	Q9UKP5	OTTHUMG00000074079	ENST00000536360.1:c.1104C>A	5.37:g.64629882G>T							p.P368P			Q9UKP5	ATS6_HUMAN		Lung(70;0.00942)	8	1917	-		Lung NSC(167;2.44e-06)|Prostate(74;0.014)|Ovarian(174;0.0549)|Breast(144;0.111)|Colorectal(97;0.235)	368			Peptidase M12B.		Q59EX6|Q5IR87|Q5IR88|Q5IR89|Q68DL1	Silent	SNP	ENST00000536360.1	37	c.1104C>A																																																																																					0.264	ADAMTS6-201	KNOWN	basic	protein_coding	protein_coding		NM_197941		10	26	1	0	1.58986e-06	1	1.6611e-06	10	26					T	64629882	G	T	64629882	2	4	94	1	0	0	0	0	0	0	0	1	270	987	35	5		5	ADAMTS6	5	64629882	Silent	SNP	G	TCGA-EJ-7782-01A-11D-2114-08	2952825	64629882	116285378	148	4967											
ENC1	8507	broad.mit.edu	37	chr5	73931034	73931034	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttctcggagtggggccaccAtggtccatttgttgattgtg	5	14	13	9	1	1	1	0	1	1	0	3	2	2	2	3	4	0	1	3	4	0	4			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr5:73931034A>G	ENST00000302351.4	-	2	2407	c.1277T>C	c.(1276-1278)aTg>aCg	p.M426T	ENC1_ENST00000510316.1_Missense_Mutation_p.M353T|ENC1_ENST00000537006.1_Missense_Mutation_p.M426T|ENC1_ENST00000509284.1_5'Flank	NM_003633.3	NP_003624.1	O14682	ENC1_HUMAN	ectodermal-neural cortex 1 (with BTB domain)	426					multicellular organismal development (GO:0007275)|negative regulation of translation (GO:0017148)|nervous system development (GO:0007399)|proteasomal ubiquitin-independent protein catabolic process (GO:0010499)|protein ubiquitination (GO:0016567)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	20		all_lung(232;0.0154)|Lung NSC(167;0.0331)|Ovarian(174;0.0798)		OV - Ovarian serous cystadenocarcinoma(47;1.45e-59)		TGGGGCCACCATGGTCCATTT	0.552																																						ENST00000302351.4																			0				breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	20						c.(1276-1278)aTg>aCg		ectodermal-neural cortex 1 (with BTB domain)							56	62	60					5																	73931034		2203	4300	6503	SO:0001583	missense	8507				nervous system development	cytoplasm|cytoskeleton|nuclear matrix	actin binding	g.chr5:73931034A>G	AF059611	CCDS4021.1, CCDS58958.1	5q13	2013-01-30	2013-01-30		ENSG00000171617	ENSG00000171617		"Kelch-like", "BTB/POZ domain containing"	3345	protein-coding gene	gene with protein product	"kelch-like family member 37"	605173	"ectodermal-neural cortex 1 (with BTB-like domain)"	NRPB		9305847, 9566959	Standard	NM_003633		Approved	PIG10, ENC-1, TP53I10, KLHL37	uc003kdc.5	O14682	OTTHUMG00000102059	ENST00000302351.4:c.1277T>C	5.37:g.73931034A>G	ENSP00000306356:p.Met426Thr					ENC1_ENST00000537006.1_Missense_Mutation_p.M426T|ENC1_ENST00000510316.1_Missense_Mutation_p.M353T	p.M426T	NM_003633.3	NP_003624.1	O14682	ENC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;1.45e-59)	2	2407	-		all_lung(232;0.0154)|Lung NSC(167;0.0331)|Ovarian(174;0.0798)	426					B4DHJ1|E9PFU0|O75464|Q9UPG9	Missense_Mutation	SNP	ENST00000302351.4	37	c.1277T>C	CCDS4021.1	.	.	.	.	.	.	.	.	.	.	A	13.74	2.327313	0.41197	.	.	ENSG00000171617	ENST00000302351;ENST00000510316;ENST00000537006	T;T;T	0.76060	-0.99;-0.99;-0.99	5.89	5.89	0.94794	Kelch-type beta propeller (1);	0.000000	0.85682	D	0.000000	T	0.57504	0.2058	N	0.05383	-0.06	0.80722	D	1	B	0.15719	0.014	B	0.23716	0.048	T	0.54323	-0.8311	10	0.18710	T	0.47	.	16.3123	0.82883	1.0:0.0:0.0:0.0	.	426	O14682	ENC1_HUMAN	T	426;353;426	ENSP00000306356:M426T;ENSP00000423804:M353T;ENSP00000446289:M426T	ENSP00000306356:M426T	M	-	2	0	ENC1	73966790	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.333000	0.96459	2.254000	0.74563	0.459000	0.35465	ATG		0.552	ENC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219862.2	NM_003633		20	45	0	0	0	1	0	20	45					G	73931034	A	G	73931034	3	3	94	1	0	0	0	0	1	0	0	0	5113	217	8	4	496	4	ENC1	5	73931034	Missense_Mutation	SNP	A	TCGA-EJ-7782-01A-11D-2114-08	9301152	73931034	106984226	149	4968											
GPR98	84059	broad.mit.edu	37	chr5	89979676	89979677	+	Frame_Shift_Ins	INS	-	-	T																															tgatccatatgggatattcaINSttttttctgagaaaaacaga																										TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr5:89979676_89979677insT	ENST00000405460.2	+	28	6034_6035	c.5938_5939insT	c.(5938-5940)attfs	p.I1980fs		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	1980	Calx-beta 14. {ECO:0000255}.				detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)	p.S1982fs*2(1)		NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TGGGATATTCATTTTTTCTGAG	0.401																																						ENST00000405460.2																			1	Insertion - Frameshift(1)	p.S1982fs*2(1)	large_intestine(1)	NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269						c.(5938-5940)tttfs		G protein-coupled receptor 98																																				SO:0001589	frameshift_variant	84059				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr5:89979676_89979677insT	AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"-", "GPCR / Class B : Orphans"	17416	protein-coding gene	gene with protein product		602851	"monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.5944dupT	5.37:g.89979682_89979682dupT	ENSP00000384582:p.Ile1980fs						p.F1980fs	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)	28	6034_6035	+		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)	1980					O75171|Q8TF58|Q9H0X5|Q9UL61	Frame_Shift_Ins	INS	ENST00000405460.2	37	c.5938_5939insT	CCDS47246.1																																																																																				0.401	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2	NM_032119		15	23						15	23	---	---	---	---	T	89979677	-	T	89979676	7	5	94	1	0	1	1	0	0	0	0	0	6721	217	8	0	6048	0	GPR98	5	89979676	Frame_Shift_Ins	INS	-	TCGA-EJ-7782-01A-11D-2114-08	16048642	89979676	90935584	150	4969											
CHSY3	337876	broad.mit.edu	37	chr5	129241153	129241153	+	Frame_Shift_Del	DEL	C	C	-																															agttcttttccagccagcagCcccccaacgccggccagccc																										TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr5:129241153delC	ENST00000305031.4	+	1	989	c.631delC	c.(631-633)cccfs	p.P212fs	CTC-575N7.1_ENST00000503616.1_RNA|CTC-575N7.1_ENST00000515569.1_RNA	NM_175856.4	NP_787052.3	Q70JA7	CHSS3_HUMAN	chondroitin sulfate synthase 3	212	Pro-rich.				carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi cisterna membrane (GO:0032580)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity (GO:0047238)|metal ion binding (GO:0046872)|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity (GO:0050510)			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|urinary_tract(1)	28		all_cancers(142;0.0227)|Breast(839;0.198)|Prostate(80;0.215)|Lung NSC(810;0.239)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.136)		CAGCCAGCAGCCCCCCAACGC	0.667																																						ENST00000305031.4																			0				central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|urinary_tract(1)	28						c.(631-633)ccfs		chondroitin sulfate synthase 3							15	21	19					5																	129241153		2184	4265	6449	SO:0001589	frameshift_variant	337876					Golgi cisterna membrane|integral to membrane	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity	g.chr5:129241153delC	AB086062	CCDS34223.1	5q13	2013-02-19			ENSG00000198108	ENSG00000198108	2.4.1.175, 2.4.1.226	"Beta 3-glycosyltransferases", "Beta 4-glycosyltransferases"	24293	protein-coding gene	gene with protein product		609963				12907687	Standard	XM_005271982		Approved	CSS3, CHSY-2	uc003kvd.3	Q70JA7	OTTHUMG00000163043	ENST00000305031.4:c.631delC	5.37:g.129241153delC	ENSP00000302629:p.Pro212fs					CTC-575N7.1_ENST00000515569.1_RNA|CTC-575N7.1_ENST00000503616.1_RNA	p.P212fs	NM_175856.4	NP_787052.3	Q70JA7	CHSS3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.136)	1	989	+		all_cancers(142;0.0227)|Breast(839;0.198)|Prostate(80;0.215)|Lung NSC(810;0.239)	212			Pro-rich.		B2RP97|Q76L22|Q86Y52	Frame_Shift_Del	DEL	ENST00000305031.4	37	c.631delC	CCDS34223.1																																																																																				0.667	CHSY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371453.1	NM_175856		20	17						20	17	---	---	---	---	-	129241153	C	-	129241153	7	5	94	1	0	1	0	1	0	0	0	0	3413	739	26	0	633	0	CHSY3	5	129241153	Frame_Shift_Del	DEL	C	TCGA-EJ-7782-01A-11D-2114-08	39261477	129241153	51674107	151	4970											
P4HA2	8974	broad.mit.edu	37	chr5	131544898	131544898	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caggcaggtagtccacaggcCtctcatagatgccttctggg	8	9	12	12	0	2	1	1	0	2	1	4	1	3	1	3	4	1	2	3	4	2	3			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr5:131544898C>A	ENST00000401867.1	-	8	1404	c.836G>T	c.(835-837)aGg>aTg	p.R279M	P4HA2_ENST00000166534.4_Missense_Mutation_p.R279M|P4HA2_ENST00000379086.1_Missense_Mutation_p.R279M|P4HA2_ENST00000360568.3_Missense_Mutation_p.R279M|P4HA2_ENST00000379100.2_Missense_Mutation_p.R279M|P4HA2_ENST00000379104.2_Missense_Mutation_p.R279M			O15460	P4HA2_HUMAN	prolyl 4-hydroxylase, alpha polypeptide II	279					peptidyl-proline hydroxylation to 4-hydroxy-L-proline (GO:0018401)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|procollagen-proline 4-dioxygenase complex (GO:0016222)	electron carrier activity (GO:0009055)|iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen (GO:0016702)|procollagen-proline 4-dioxygenase activity (GO:0004656)			breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24		all_cancers(142;0.103)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		L-Proline(DB00172)|Succinic acid(DB00139)	GTCCACAGGCCTCTCATAGAT	0.512																																					Esophageal Squamous(68;117 1135 17362 19256 34242)	ENST00000401867.1																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24						c.(835-837)aGg>aTg		prolyl 4-hydroxylase, alpha polypeptide II	L-Proline(DB00172)|Succinic acid(DB00139)						230	221	224					5																	131544898		2203	4300	6503	SO:0001583	missense	8974					endoplasmic reticulum lumen	electron carrier activity|iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 4-dioxygenase activity|protein binding	g.chr5:131544898C>A	U90441	CCDS4151.1, CCDS34230.1	5q31	2008-12-09	2008-12-09		ENSG00000072682	ENSG00000072682	1.14.11.2		8547	protein-coding gene	gene with protein product	"4-PH alpha 2", "collagen prolyl 4-hydroxylase alpha(II)"	600608	"procollagen-proline, 2-oxoglutarate 4-dioxygenase (proline 4-hydroxylase), alpha polypeptide II"			9211872, 9149945	Standard	NM_001142598		Approved	C-P4Halpha(II)	uc003kwl.3	O15460	OTTHUMG00000059647	ENST00000401867.1:c.836G>T	5.37:g.131544898C>A	ENSP00000384999:p.Arg279Met					P4HA2_ENST00000379086.1_Missense_Mutation_p.R279M|P4HA2_ENST00000379100.2_Missense_Mutation_p.R279M|P4HA2_ENST00000360568.3_Missense_Mutation_p.R279M|P4HA2_ENST00000166534.4_Missense_Mutation_p.R279M|P4HA2_ENST00000379104.2_Missense_Mutation_p.R279M	p.R279M			O15460	P4HA2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		8	1404	-		all_cancers(142;0.103)|Breast(839;0.198)	279					D3DQ85|D3DQ86|Q8WWN0	Missense_Mutation	SNP	ENST00000401867.1	37	c.836G>T	CCDS4151.1	.	.	.	.	.	.	.	.	.	.	C	27.4	4.828479	0.90955	.	.	ENSG00000072682	ENST00000401867;ENST00000379086;ENST00000166534;ENST00000360568;ENST00000379104;ENST00000379100	T;T;T;T;T;T	0.48836	0.8;0.8;0.8;0.8;0.8;0.8	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	T	0.61009	0.2313	L	0.54323	1.7	0.80722	D	1	D;D	0.54207	0.964;0.965	P;P	0.56474	0.634;0.799	T	0.56739	-0.7929	10	0.40728	T	0.16	-19.5063	19.7739	0.96383	0.0:1.0:0.0:0.0	.	279;279	O15460;O15460-2	P4HA2_HUMAN;.	M	279	ENSP00000384999:R279M;ENSP00000368379:R279M;ENSP00000166534:R279M;ENSP00000353772:R279M;ENSP00000368398:R279M;ENSP00000368394:R279M	ENSP00000166534:R279M	R	-	2	0	P4HA2	131572797	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	5.552000	0.67281	2.744000	0.94065	0.655000	0.94253	AGG		0.512	P4HA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000132653.4	NM_004199		7	127	1	0	0.00307968	1	0.00311612	7	127					A	131544898	C	A	131544898	3	1	94	1	0	0	0	0	1	0	0	0	11357	681	24	5	871	5	P4HA2	5	131544898	Missense_Mutation	SNP	C	TCGA-EJ-7782-01A-11D-2114-08	2303745	131544898	49370362	152	4971											
PCDHA2	56146	broad.mit.edu	37	chr5	140176038	140176038	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgtcctactcgctggtggagCggcgggtgggcgagcgcgcg	3	7	20	11	7	0	0	0	0	0	0	2	2	1	1	1	5	3	1	1	5	1	1			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr5:140176038C>T	ENST00000526136.1	+	1	1489	c.1489C>T	c.(1489-1491)Cgg>Tgg	p.R497W	PCDHA2_ENST00000378132.1_Missense_Mutation_p.R497W|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000520672.2_Missense_Mutation_p.R497W|PCDHA1_ENST00000504120.2_Intron	NM_018905.2	NP_061728.1	Q9Y5H9	PCDA2_HUMAN	protocadherin alpha 2	497	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCTGGTGGAGCGGCGGGTGGG	0.672																																						ENST00000526136.1																			0				NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)	71						c.(1489-1491)Cgg>Tgg									53	57	56					5																	140176038		2203	4300	6503	SO:0001583	missense	0							g.chr5:140176038C>T	AF152480	CCDS54914.1, CCDS64269.1	5q31	2010-11-26				ENSG00000204969		"Cadherins / Protocadherins : Clustered"	8668	other	complex locus constituent	"KIAA0345-like 12"	606308				10380929	Standard	NM_018905		Approved			Q9Y5H9		ENST00000526136.1:c.1489C>T	5.37:g.140176038C>T	ENSP00000431748:p.Arg497Trp					PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000520672.2_Missense_Mutation_p.R497W|PCDHA2_ENST00000378132.1_Missense_Mutation_p.R497W	p.R497W	NM_018905.2	NP_061728.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1489	+								O75287|Q9BTV3	Missense_Mutation	SNP	ENST00000526136.1	37	c.1489C>T	CCDS54914.1	.	.	.	.	.	.	.	.	.	.	c	16.53	3.149674	0.57151	.	.	ENSG00000204969	ENST00000520672;ENST00000378132;ENST00000526136	T;T;T	0.52295	0.67;0.67;0.67	4.05	2.03	0.26663	Cadherin (4);Cadherin-like (1);	0.194082	0.23035	U	0.052684	T	0.58018	0.2093	M	0.63208	1.945	0.24455	N	0.994467	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.75484	0.959;0.986;0.959	T	0.44620	-0.9316	10	0.87932	D	0	.	4.5007	0.11863	0.3983:0.4929:0.0:0.1087	.	497;497;497	Q9Y5H9-3;Q9Y5H9;Q9Y5H9-2	.;PCDA2_HUMAN;.	W	497	ENSP00000430584:R497W;ENSP00000367372:R497W;ENSP00000431748:R497W	ENSP00000367372:R497W	R	+	1	2	PCDHA2	140156222	0.000000	0.05858	0.998000	0.56505	0.939000	0.58152	-0.526000	0.06207	0.812000	0.34326	-0.195000	0.12781	CGG		0.672	PCDHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372877.3	NM_018905		7	62	0	0	0	1	0	7	62					T	140176038	C	T	140176038	3	4	94	1	0	0	0	0	1	0	0	0	11524	759	27	1	1491	1	PCDHA2	5	140176038	Missense_Mutation	SNP	C	TCGA-EJ-7782-01A-11D-2114-08	8631140	140176038	40739222	153	4972											
PCDHA5	56143	broad.mit.edu	37	chr5	140203213	140203213	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gccagcgcctggcagtgcgcGcatcccgttccgcgtggggc	3	6	16	16	6	0	0	0	0	0	0	2	0	2	0	4	3	2	3	4	3	0	1			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr5:140203213G>A	ENST00000529859.1	+	1	1853	c.1853G>A	c.(1852-1854)cGc>cAc	p.R618H	PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529619.1_Missense_Mutation_p.R618H|PCDHA5_ENST00000378126.3_Missense_Mutation_p.R618H|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron	NM_018908.2	NP_061731.1	Q9Y5H7	PCDA5_HUMAN	protocadherin alpha 5	618	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.R618H(2)		NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(3)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGCAGTGCGCGCATCCCGTTC	0.652																																						ENST00000529859.1																			2	Substitution - Missense(2)	p.R618H(2)	large_intestine(2)	NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(3)	60						c.(1852-1854)cGc>cAc									74	77	76					5																	140203213		2203	4300	6503	SO:0001583	missense	0							g.chr5:140203213G>A	AF152483	CCDS54917.1	5q31	2010-11-26				ENSG00000204965		"Cadherins / Protocadherins : Clustered"	8671	other	complex locus constituent	"ortholog of mouse CNR6", "KIAA0345-like 9"	606311		CNRS6		10380929, 10662547	Standard	NM_018908		Approved	CNR6, CRNR6, CNRN6, PCDH-ALPHA5		Q9Y5H7		ENST00000529859.1:c.1853G>A	5.37:g.140203213G>A	ENSP00000436557:p.Arg618His					PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Missense_Mutation_p.R618H|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000378126.3_Missense_Mutation_p.R618H	p.R618H	NM_018908.2	NP_061731.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1853	+								O75284|Q8N4R3	Missense_Mutation	SNP	ENST00000529859.1	37	c.1853G>A	CCDS54917.1	.	.	.	.	.	.	.	.	.	.	g	0.473	-0.883725	0.02530	.	.	ENSG00000204965	ENST00000529619;ENST00000529859;ENST00000378126	T;T;T	0.52526	0.66;0.66;0.66	3.87	2.06	0.26882	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.35508	0.0934	L	0.44542	1.39	0.23421	N	0.997713	B;B;B	0.29301	0.241;0.171;0.171	B;B;B	0.27715	0.082;0.03;0.046	T	0.22941	-1.0202	9	0.41790	T	0.15	.	5.4247	0.16419	0.1933:0.1635:0.6433:0.0	.	618;618;618	Q9Y5H7;Q9Y5H7-3;Q9Y5H7-2	PCDA5_HUMAN;.;.	H	618	ENSP00000433416:R618H;ENSP00000436557:R618H;ENSP00000367366:R618H	ENSP00000367366:R618H	R	+	2	0	PCDHA5	140183397	0.000000	0.05858	0.173000	0.22940	0.289000	0.27227	-0.561000	0.05957	0.264000	0.21851	-0.699000	0.03677	CGC		0.652	PCDHA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372883.2	NM_018908		15	64	0	0	0	1	0	15	64					A	140203213	G	A	140203213	3	1	94	1	0	0	0	0	1	0	0	0	11527	1087	38	1	1855	1	PCDHA5	5	140203213	Missense_Mutation	SNP	G	TCGA-EJ-7782-01A-11D-2114-08	27175	140203213	40712047	154	4973											
PCDHA12	56137	broad.mit.edu	37	chr5	140256668	140256668	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcagttccaggtgagcgcGcgcgacgccggcgtgccgcc	4	5	16	16	8	0	1	0	1	0	0	1	2	1	1	4	2	3	2	4	2	0	1			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr5:140256668G>A	ENST00000398631.2	+	1	1611	c.1611G>A	c.(1609-1611)gcG>gcA	p.A537A	PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000512229.2_Intron	NM_018903.2|NM_031864.2	NP_061726.1|NP_114070.1	Q9UN75	PCDAC_HUMAN	protocadherin alpha 12	537	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(4)|breast(2)|cervix(1)|endometrium(19)|kidney(8)|large_intestine(8)|liver(2)|lung(25)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGGTGAGCGCGCGCGACGCCG	0.687																																					Pancreas(113;759 1672 13322 24104 50104)	ENST00000398631.2																			0				NS(4)|breast(2)|cervix(1)|endometrium(19)|kidney(8)|large_intestine(8)|liver(2)|lung(25)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	78						c.(1609-1611)gcG>gcA									75	84	81					5																	140256668		2203	4298	6501	SO:0001819	synonymous_variant	0							g.chr5:140256668G>A	AF152477	CCDS47285.1, CCDS75327.1	5q31	2010-11-26			ENSG00000251664	ENSG00000251664		"Cadherins / Protocadherins : Clustered"	8666	other	complex locus constituent	"KIAA0345-like 2"	606318				10380929	Standard	NM_018903		Approved	PCDH-ALPHA12	uc003lic.2	Q9UN75	OTTHUMG00000163366	ENST00000398631.2:c.1611G>A	5.37:g.140256668G>A						PCDHA6_ENST00000527624.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000530339.1_Intron	p.A537A	NM_018903.2|NM_031864.1	NP_061726.1|NP_114070.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1611	+								O75278|Q2M1N8	Silent	SNP	ENST00000398631.2	37	c.1611G>A	CCDS47285.1																																																																																				0.687	PCDHA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372882.2	NM_018903		50	97	0	0	0	1	0	50	97					A	140256668	G	A	140256668	2	1	94	1	0	0	0	0	0	0	0	1	11522	1074	38	1		1	PCDHA12	5	140256668	Silent	SNP	G	TCGA-EJ-7782-01A-11D-2114-08	53455	140256668	40658592	155	4974											
PCDHB1	29930	broad.mit.edu	37	chr5	140431844	140431844	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aatggctctttggtggccacGgtgactgccgtggacctaga	7	10	14	10	2	1	2	0	1	1	1	1	3	1	3	3	5	1	1	3	5	2	2			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr5:140431844G>A	ENST00000306549.3	+	1	866	c.789G>A	c.(787-789)acG>acA	p.T263T		NM_013340.2	NP_037472.2	Q9Y5F3	PCDB1_HUMAN	protocadherin beta 1	263	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|liver(1)|lung(13)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	53			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGGTGGCCACGGTGACTGCCG	0.532																																						ENST00000306549.3																			0				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|liver(1)|lung(13)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	53						c.(787-789)acG>acA									51	49	50					5																	140431844		2203	4300	6503	SO:0001819	synonymous_variant	0				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140431844G>A	AF152488	CCDS4243.1	5q31	2010-01-26			ENSG00000171815	ENSG00000171815		"Cadherins / Protocadherins : Clustered"	8680	other	protocadherin		606327				10380929	Standard	NM_013340		Approved	PCDH-BETA1	uc003lik.1	Q9Y5F3	OTTHUMG00000129627	ENST00000306549.3:c.789G>A	5.37:g.140431844G>A							p.T263T	NM_013340.2	NP_037472.2	Q9Y5F3	PCDB1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	866	+			263			Cadherin 3.		Q2M257	Silent	SNP	ENST00000306549.3	37	c.789G>A	CCDS4243.1																																																																																				0.532	PCDHB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251822.2	NM_013340		6	30	0	0	0	1	0	6	30					A	140431844	G	A	140431844	2	1	94	1	0	0	0	0	0	0	0	1	11534	1103	39	2		2	PCDHB1	5	140431844	Silent	SNP	G	TCGA-EJ-7782-01A-11D-2114-08	175176	140431844	40483416	156	4975											
PCDHGA2	56113	broad.mit.edu	37	chr5	140719302	140719302	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cataagcattccggagaataCgctcgtgggcacccggatac	11	7	11	12	4	0	1	0	0	0	1	2	3	1	2	2	3	3	3	2	3	4	4			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr5:140719302C>T	ENST00000394576.2	+	1	764	c.764C>T	c.(763-765)aCg>aTg	p.T255M	PCDHGA1_ENST00000517417.1_Intron	NM_018915.2	NP_061738.1	Q9Y5H1	PCDG2_HUMAN	protocadherin gamma subfamily A, 2	255	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCGGAGAATACGCTCGTGGGC	0.547																																						ENST00000394576.2																			0				breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77						c.(763-765)aCg>aTg									72	77	75					5																	140719302		2203	4299	6502	SO:0001583	missense	0							g.chr5:140719302C>T	AF152508	CCDS47289.1	5q31	2011-03-28			ENSG00000081853	ENSG00000081853		"Cadherins / Protocadherins : Clustered"	8700	other	protocadherin		606289				10380929	Standard	NM_018915		Approved	PCDH-GAMMA-A2		Q9Y5H1	OTTHUMG00000163679	ENST00000394576.2:c.764C>T	5.37:g.140719302C>T	ENSP00000378077:p.Thr255Met					PCDHGA1_ENST00000517417.1_Intron	p.T255M	NM_018915.2	NP_061738.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	764	+								Q52LL6|Q9Y5D5	Missense_Mutation	SNP	ENST00000394576.2	37	c.764C>T	CCDS47289.1	.	.	.	.	.	.	.	.	.	.	.	3.038	-0.198138	0.06219	.	.	ENSG00000081853	ENST00000394576	T	0.01804	4.63	5.26	-3.98	0.04082	Cadherin (4);Cadherin-like (1);	1.869310	0.03197	N	0.174228	T	0.01940	0.0061	L	0.33710	1.025	0.09310	N	1	B;B	0.16166	0.012;0.016	B;B	0.20184	0.016;0.028	T	0.47222	-0.9134	10	0.51188	T	0.08	.	6.4089	0.21680	0.1115:0.359:0.0:0.5294	.	255;255	Q9Y5H1-2;Q9Y5H1	.;PCDG2_HUMAN	M	255	ENSP00000378077:T255M	ENSP00000378077:T255M	T	+	2	0	PCDHGA2	140699486	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.545000	0.06069	-0.895000	0.03920	-0.793000	0.03317	ACG		0.547	PCDHGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374738.1	NM_018915		13	91	0	0	0	1	0	13	91					T	140719302	C	T	140719302	3	4	94	1	0	0	0	0	1	0	0	0	11554	536	19	1	766	1	PCDHGA2	5	140719302	Missense_Mutation	SNP	C	TCGA-EJ-7782-01A-11D-2114-08	287458	140719302	40195958	157	4976											
SPARC	6678	broad.mit.edu	37	chr5	151046004	151046004	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atagttcttctcgaagtcccGggccagcagctccacggggt	7	9	12	13	3	2	0	0	0	2	0	5	1	4	0	3	3	2	3	3	3	2	3	rs150910656		TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr5:151046004G>A	ENST00000231061.4	-	8	965	c.652C>T	c.(652-654)Cgg>Tgg	p.R218W	SPARC_ENST00000537849.1_5'UTR	NM_003118.3	NP_003109.1	P09486	SPRC_HUMAN	secreted protein, acidic, cysteine-rich (osteonectin)	218					blood coagulation (GO:0007596)|bone development (GO:0060348)|cellular response to growth factor stimulus (GO:0071363)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|inner ear development (GO:0048839)|lung development (GO:0030324)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endothelial cell proliferation (GO:0001937)|ossification (GO:0001503)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of endothelial cell migration (GO:0010595)|regulation of cell morphogenesis (GO:0022604)|response to cadmium ion (GO:0046686)|response to calcium ion (GO:0051592)|response to cAMP (GO:0051591)|response to cytokine (GO:0034097)|response to ethanol (GO:0045471)|response to glucocorticoid (GO:0051384)|response to gravity (GO:0009629)|response to L-ascorbic acid (GO:0033591)|response to lead ion (GO:0010288)|response to lipopolysaccharide (GO:0032496)|response to peptide hormone (GO:0043434)|signal transduction (GO:0007165)	basement membrane (GO:0005604)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endocytic vesicle lumen (GO:0071682)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|nuclear matrix (GO:0016363)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|platelet alpha granule membrane (GO:0031092)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|extracellular matrix binding (GO:0050840)			central_nervous_system(3)|large_intestine(5)|lung(5)|ovary(1)|urinary_tract(1)	15		Medulloblastoma(196;0.109)|all_hematologic(541;0.122)	Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)	OV - Ovarian serous cystadenocarcinoma(192;0.00118)		TCGAAGTCCCGGGCCAGCAGC	0.562																																						ENST00000231061.4																			0				central_nervous_system(3)|large_intestine(5)|lung(5)|ovary(1)|urinary_tract(1)	15						c.(652-654)Cgg>Tgg		secreted protein, acidic, cysteine-rich (osteonectin)	Becaplermin(DB00102)	G	TRP/ARG	0,4406		0,0,2203	67	63	64		652	5.6	1	5	dbSNP_134	64	1,8599	1.2+/-3.3	0,1,4299	no	missense	SPARC	NM_003118.2	101	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	218/304	151046004	1,13005	2203	4300	6503	SO:0001583	missense	6678				ossification|platelet activation|platelet degranulation|signal transduction	basement membrane|extracellular space|platelet alpha granule lumen	calcium ion binding|collagen binding	g.chr5:151046004G>A		CCDS4318.1	5q31-q33	2012-10-02			ENSG00000113140	ENSG00000113140			11219	protein-coding gene	gene with protein product	"cysteine-rich protein", "osteonectin"	182120		ON		2838412, 3410046	Standard	NM_003118		Approved		uc003lui.4	P09486	OTTHUMG00000130122	ENST00000231061.4:c.652C>T	5.37:g.151046004G>A	ENSP00000231061:p.Arg218Trp					SPARC_ENST00000537849.1_5'UTR	p.R218W	NM_003118.3	NP_003109.1	P09486	SPRC_HUMAN	Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)	OV - Ovarian serous cystadenocarcinoma(192;0.00118)	8	965	-		Medulloblastoma(196;0.109)|all_hematologic(541;0.122)	218					D3DQH9|Q6IBK4	Missense_Mutation	SNP	ENST00000231061.4	37	c.652C>T	CCDS4318.1	.	.	.	.	.	.	.	.	.	.	G	35	5.501773	0.96371	0.0	1.16E-4	ENSG00000113140	ENST00000231061;ENST00000538026	T	0.26810	1.71	5.64	5.64	0.86602	SPARC/Testican, calcium-binding domain (1);EF-hand-like domain (1);	0.169399	0.53938	D	0.000052	T	0.49898	0.1584	M	0.72118	2.19	0.80722	D	1	D	0.89917	1.0	P	0.60173	0.87	T	0.50742	-0.8792	10	0.87932	D	0	-16.1546	19.698	0.96034	0.0:0.0:1.0:0.0	.	218	P09486	SPRC_HUMAN	W	218;127	ENSP00000231061:R218W	ENSP00000231061:R218W	R	-	1	2	SPARC	151026197	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.332000	0.79203	2.652000	0.90054	0.655000	0.94253	CGG		0.562	SPARC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252430.1	NM_003118		11	29	0	0	0	1	0	11	29					A	151046004	G	A	151046004	3	1	94	1	0	0	0	0	1	0	0	0	14994	1115	39	2	271	2	SPARC	5	151046004	Missense_Mutation	SNP	G	TCGA-EJ-7782-01A-11D-2114-08	10326702	151046004	29869256	158	4977											
ADRA1B	147	broad.mit.edu	37	chr5	159344293	159344293	+	Frame_Shift_Del	DEL	G	G	-																															tgggcagccgtggatgtcctGtgctgcacagcgtccattct																										TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr5:159344293delG	ENST00000306675.3	+	1	504	c.381delG	c.(379-381)ctgfs	p.L127fs		NM_000679.3	NP_000670.1	P35368	ADA1B_HUMAN	adrenoceptor alpha 1B	127					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|adrenergic receptor signaling pathway (GO:0071875)|adult heart development (GO:0007512)|behavioral response to cocaine (GO:0048148)|blood vessel remodeling (GO:0001974)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|intracellular signal transduction (GO:0035556)|locomotory behavior (GO:0007626)|multicellular organismal development (GO:0007275)|negative regulation of glycogen catabolic process (GO:0045818)|organ growth (GO:0035265)|positive regulation of glycogen catabolic process (GO:0045819)|positive regulation of heart rate by epinephrine-norepinephrine (GO:0001996)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of the force of heart contraction by epinephrine-norepinephrine (GO:0001997)|regulation of cardiac muscle contraction (GO:0055117)|regulation of vasoconstriction (GO:0019229)|response to amphetamine (GO:0001975)|response to morphine (GO:0043278)|vasoconstriction of artery involved in baroreceptor response to lowering of systemic arterial blood pressure (GO:0001987)|visual learning (GO:0008542)	integral component of plasma membrane (GO:0005887)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	alpha1-adrenergic receptor activity (GO:0004937)|protein heterodimerization activity (GO:0046982)			endometrium(3)|large_intestine(6)|lung(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Acepromazine(DB01614)|Alfuzosin(DB00346)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Amphetamine(DB00182)|Aripiprazole(DB01238)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Clonidine(DB00575)|Clozapine(DB00363)|Dapiprazole(DB00298)|Desipramine(DB01151)|Dextroamphetamine(DB01576)|Doxazosin(DB00590)|Doxepin(DB01142)|Dronedarone(DB04855)|Droxidopa(DB06262)|Epinephrine(DB00668)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Imipramine(DB00458)|Labetalol(DB00598)|Lisdexamfetamine(DB01255)|Loxapine(DB00408)|Maprotiline(DB00934)|Mephentermine(DB01365)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Mianserin(DB06148)|Midodrine(DB00211)|Mirtazapine(DB00370)|Modafinil(DB00745)|Nefazodone(DB01149)|Nicardipine(DB00622)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxymetazoline(DB00935)|Paliperidone(DB01267)|Pergolide(DB01186)|Phendimetrazine(DB01579)|Phenoxybenzamine(DB00925)|Phenylephrine(DB00388)|Prazosin(DB00457)|Promazine(DB00420)|Propericiazine(DB01608)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Sertindole(DB06144)|Silodosin(DB06207)|Tamsulosin(DB00706)|Terazosin(DB01162)|Thioproperazine(DB01622)|Thioridazine(DB00679)|Trimipramine(DB00726)|Xylometazoline(DB06694)|Ziprasidone(DB00246)	TGGATGTCCTGTGCTGCACAG	0.622																																						ENST00000306675.3																			0				endometrium(3)|large_intestine(6)|lung(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(379-381)ctfs		adrenoceptor alpha 1B	Alfuzosin(DB00346)|Bethanidine(DB00217)|Dapiprazole(DB00298)|Debrisoquin(DB04840)|Dextroamphetamine(DB01576)|Doxazosin(DB00590)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Guanfacine(DB01018)|Labetalol(DB00598)|Lisdexamfetamine(DB01255)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Midodrine(DB00211)|Modafinil(DB00745)|Nefazodone(DB01149)|Norepinephrine(DB00368)|Olanzapine(DB00334)|Phendimetrazine(DB01579)|Phenylephrine(DB00388)|Prazosin(DB00457)|Promazine(DB00420)|Propericiazine(DB01608)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Sertindole(DB06144)|Tamsulosin(DB00706)|Terazosin(DB01162)|Trazodone(DB00656)						101	87	92					5																	159344293		2203	4300	6503	SO:0001589	frameshift_variant	147				cell proliferation|cell-cell signaling|G-protein signaling, coupled to cAMP nucleotide second messenger|intracellular protein kinase cascade	integral to plasma membrane	alpha1-adrenergic receptor activity	g.chr5:159344293delG	L31773	CCDS4347.1	5q33.3	2012-08-08	2012-05-09		ENSG00000170214	ENSG00000170214		"GPCR / Class A : Adrenoceptors : alpha"	278	protein-coding gene	gene with protein product		104220	"adrenergic, alpha-1B-, receptor"				Standard	XM_005265818		Approved		uc003lxt.1	P35368	OTTHUMG00000130327	ENST00000306675.3:c.381delG	5.37:g.159344293delG	ENSP00000306662:p.Leu127fs						p.L127fs	NM_000679.3	NP_000670.1	P35368	ADA1B_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		1	504	+	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	127					B0LPE1	Frame_Shift_Del	DEL	ENST00000306675.3	37	c.381delG	CCDS4347.1																																																																																				0.622	ADRA1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252676.1			32	38						32	38	---	---	---	---	-	159344293	G	-	159344293	7	5	94	1	0	1	0	1	0	0	0	0	335	1364	48	0	383	0	ADRA1B	5	159344293	Frame_Shift_Del	DEL	G	TCGA-EJ-7782-01A-11D-2114-08	8298289	159344293	21570967	159	4978											
DUSP1	1843	broad.mit.edu	37	chr5	172195842	172195842	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagtggacagggatggagaCggggaagttgaacacggtgg	11	5	21	4	2	0	2	0	1	0	1	0	7	0	6	0	8	1	1	0	8	2	1			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr5:172195842C>T	ENST00000239223.3	-	4	1269	c.1027G>A	c.(1027-1029)Gtc>Atc	p.V343I	RP11-779O18.3_ENST00000523005.1_RNA	NM_004417.3	NP_004408.1	P28562	DUS1_HUMAN	dual specificity phosphatase 1	343	Tyrosine-protein phosphatase.				cellular response to hormone stimulus (GO:0032870)|endoderm formation (GO:0001706)|inactivation of MAPK activity (GO:0000188)|intracellular signal transduction (GO:0035556)|mitotic cell cycle arrest (GO:0071850)|negative regulation of apoptotic process (GO:0043066)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of meiotic cell cycle (GO:0051447)|peptidyl-threonine dephosphorylation (GO:0035970)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of apoptotic process (GO:0043065)|protein dephosphorylation (GO:0006470)|regulation of apoptotic process (GO:0042981)|regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090266)|response to calcium ion (GO:0051592)|response to cAMP (GO:0051591)|response to estradiol (GO:0032355)|response to glucocorticoid (GO:0051384)|response to hydrogen peroxide (GO:0042542)|response to light stimulus (GO:0009416)|response to oxidative stress (GO:0006979)|response to retinoic acid (GO:0032526)|response to testosterone (GO:0033574)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	MAP kinase tyrosine/serine/threonine phosphatase activity (GO:0017017)|non-membrane spanning protein tyrosine phosphatase activity (GO:0004726)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)|protein tyrosine/threonine phosphatase activity (GO:0008330)			NS(1)|breast(2)|endometrium(1)|large_intestine(1)|liver(1)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	10	Renal(175;0.000159)|Lung NSC(126;0.00431)|all_lung(126;0.00729)	all_hematologic(541;4.11e-18)|Breast(839;0.00637)|Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|Ovarian(839;0.15)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)	GBM - Glioblastoma multiforme(465;0.0103)		GGGATGGAGACGGGGAAGTTG	0.642																																						ENST00000239223.3																			0				NS(1)|breast(2)|endometrium(1)|large_intestine(1)|liver(1)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	10						c.(1027-1029)Gtc>Atc		dual specificity phosphatase 1							111	106	107					5																	172195842		2203	4300	6503	SO:0001583	missense	1843				cell cycle|endoderm formation|inactivation of MAPK activity	nucleoplasm	MAP kinase tyrosine/serine/threonine phosphatase activity|non-membrane spanning protein tyrosine phosphatase activity|protein binding	g.chr5:172195842C>T	X68277	CCDS4380.1	5q35.1	2011-06-09			ENSG00000120129	ENSG00000120129		"Protein tyrosine phosphatases / Class I Cys-based PTPs : MAP kinase phosphatases"	3064	protein-coding gene	gene with protein product		600714		PTPN10		1406996, 7806236	Standard	NM_004417		Approved	HVH1, CL100, MKP-1	uc003mbv.2	P28562	OTTHUMG00000130523	ENST00000239223.3:c.1027G>A	5.37:g.172195842C>T	ENSP00000239223:p.Val343Ile					RP11-779O18.3_ENST00000523005.1_RNA	p.V343I	NM_004417.3	NP_004408.1	P28562	DUS1_HUMAN	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)	GBM - Glioblastoma multiforme(465;0.0103)	4	1269	-	Renal(175;0.000159)|Lung NSC(126;0.00431)|all_lung(126;0.00729)	all_hematologic(541;4.11e-18)|Breast(839;0.00637)|Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|Ovarian(839;0.15)	343			Tyrosine-protein phosphatase.		D3DQL9|Q2V508	Missense_Mutation	SNP	ENST00000239223.3	37	c.1027G>A	CCDS4380.1	.	.	.	.	.	.	.	.	.	.	C	29.0	4.971562	0.92919	.	.	ENSG00000120129	ENST00000239223;ENST00000457103;ENST00000434080	T	0.02301	4.35	5.1	5.1	0.69264	.	0.000000	0.85682	D	0.000000	T	0.06554	0.0168	L	0.44542	1.39	0.58432	D	0.999998	D;D	0.71674	0.996;0.998	P;P	0.54060	0.606;0.741	T	0.33904	-0.9850	10	0.51188	T	0.08	.	18.8778	0.92345	0.0:1.0:0.0:0.0	.	343;300	P28562;B4DNT2	DUS1_HUMAN;.	I	343;316;278	ENSP00000239223:V343I	ENSP00000239223:V343I	V	-	1	0	DUSP1	172128448	1.000000	0.71417	0.968000	0.41197	0.975000	0.68041	7.776000	0.85560	2.522000	0.85027	0.655000	0.94253	GTC		0.642	DUSP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252943.3	NM_004417		7	60	0	0	0	1	0	7	60					T	172195842	C	T	172195842	3	4	94	1	0	0	0	0	1	0	0	0	4809	536	19	1	80	1	DUSP1	5	172195842	Missense_Mutation	SNP	C	TCGA-EJ-7782-01A-11D-2114-08	12851549	172195842	8719418	160	4979											
BNIP1	662	broad.mit.edu	37	chr5	172590779	172590779	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgaagaatttaagtccatgtCgggcaccatccagctgggcc	10	9	11	11	1	0	2	0	1	0	1	3	2	2	2	4	2	1	2	4	2	3	2	rs571755895		TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr5:172590779C>T	ENST00000351486.5	+	6	573	c.542C>T	c.(541-543)tCg>tTg	p.S181L	BNIP1_ENST00000352523.6_Missense_Mutation_p.S190L|BNIP1_ENST00000393770.4_Missense_Mutation_p.S147L|BNIP1_ENST00000231668.9_Missense_Mutation_p.S224L	NM_001205.2	NP_001196.2	Q12981	SEC20_HUMAN	BCL2/adenovirus E1B 19kDa interacting protein 1	181					apoptotic process (GO:0006915)|autophagy (GO:0006914)|endoplasmic reticulum membrane fusion (GO:0016320)|endoplasmic reticulum organization (GO:0007029)|execution phase of apoptosis (GO:0097194)|negative regulation of apoptotic process (GO:0043066)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|integral component of endoplasmic reticulum membrane (GO:0030176)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|SNARE complex (GO:0031201)	SNAP receptor activity (GO:0005484)			breast(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|skin(1)	11	Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			AAGTCCATGTCGGGCACCATC	0.498													C|||	1	0.000199681	0	0	5008	,	,		18258	0		0	False		,,,				2504	0.001					ENST00000231668.9																			0				breast(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|skin(1)	11						c.(670-672)tCg>tTg		BCL2/adenovirus E1B 19kDa interacting protein 1							85	82	83					5																	172590779		2203	4300	6503	SO:0001583	missense	662				anti-apoptosis|apoptosis|endoplasmic reticulum membrane fusion|endoplasmic reticulum organization|induction of apoptosis|vesicle-mediated transport	integral to endoplasmic reticulum membrane|nuclear envelope|SNARE complex	protein binding	g.chr5:172590779C>T	AF083957	CCDS4384.1, CCDS4385.1, CCDS4386.1, CCDS43400.1	5q33-q34	2008-02-05	2002-08-29		ENSG00000113734	ENSG00000113734			1082	protein-coding gene	gene with protein product		603291	"BCL2/adenovirus E1B 19kD-interacting protein 1"			7954800, 15272311	Standard	NM_013979		Approved	Nip1, SEC20	uc003mcj.4	Q12981	OTTHUMG00000130521	ENST00000351486.5:c.542C>T	5.37:g.172590779C>T	ENSP00000239215:p.Ser181Leu					BNIP1_ENST00000351486.5_Missense_Mutation_p.S181L|BNIP1_ENST00000352523.6_Missense_Mutation_p.S190L|BNIP1_ENST00000393770.4_Missense_Mutation_p.S147L	p.S224L	NM_013979.2	NP_053582.2	Q12981	SEC20_HUMAN	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)		7	775	+	Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	181					D3DQM3|D3DQM4|D3DQM5|D3DQM6|O75622|O75623|O75624|Q6K044|Q96FG4	Missense_Mutation	SNP	ENST00000351486.5	37	c.671C>T	CCDS4384.1	.	.	.	.	.	.	.	.	.	.	C	35	5.516373	0.96402	.	.	ENSG00000113734	ENST00000231668;ENST00000351486;ENST00000352523;ENST00000393770	T;T;T;T	0.48201	0.82;0.84;0.82;0.84	5.73	5.73	0.89815	.	0.062472	0.64402	D	0.000003	T	0.58566	0.2131	M	0.62723	1.935	0.80722	D	1	P;D;D;D	0.60575	0.92;0.978;0.988;0.978	B;P;P;P	0.50590	0.321;0.526;0.645;0.562	T	0.57142	-0.7862	10	0.42905	T	0.14	.	19.9084	0.97016	0.0:1.0:0.0:0.0	.	147;190;181;224	Q12981-2;Q12981-3;Q12981;Q12981-1	.;.;SEC20_HUMAN;.	L	224;181;190;147	ENSP00000231668:S224L;ENSP00000239215:S181L;ENSP00000239214:S190L;ENSP00000377365:S147L	ENSP00000231668:S224L	S	+	2	0	BNIP1	172523385	1.000000	0.71417	0.969000	0.41365	0.780000	0.44128	7.487000	0.81328	2.711000	0.92665	0.650000	0.86243	TCG		0.498	BNIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252939.1	NM_013979		5	57	0	0	0	1	0	5	57					T	172590779	C	T	172590779	3	4	94	1	0	0	0	0	1	0	0	0	1476	893	31	2	697	2	BNIP1	5	172590779	Missense_Mutation	SNP	C	TCGA-EJ-7782-01A-11D-2114-08	394937	172590779	8324481	161	4980											
GRK6	2870	broad.mit.edu	37	chr5	176859091	176859091	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggagctgagccgctgcgtcGccttcctggatggggtggtg	3	9	18	11	4	0	1	0	1	0	0	2	3	1	3	3	5	3	2	3	5	0	1			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr5:176859091G>A	ENST00000355472.5	+	3	412	c.244G>A	c.(244-246)Gcc>Acc	p.A82T	GRK6_ENST00000528793.1_Missense_Mutation_p.A82T|GRK6_ENST00000393576.3_Missense_Mutation_p.A82T|GRK6_ENST00000355958.5_Missense_Mutation_p.A82T|GRK6_ENST00000507633.1_Missense_Mutation_p.A82T	NM_001004106.2|NM_002082.3	NP_001004106.1|NP_002073.2	P43250	GRK6_HUMAN	G protein-coupled receptor kinase 6	82	N-terminal.|RGS. {ECO:0000255|PROSITE- ProRule:PRU00171}.				regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|Wnt signaling pathway (GO:0016055)	membrane (GO:0016020)	ATP binding (GO:0005524)|G-protein coupled receptor kinase activity (GO:0004703)			breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(5)|stomach(1)	25	all_cancers(89;1.15e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CCGCTGCGTCGCCTTCCTGGA	0.687																																						ENST00000355472.5																			0				breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(5)|stomach(1)	25						c.(244-246)Gcc>Acc		G protein-coupled receptor kinase 6							52	55	54					5																	176859091		2203	4300	6503	SO:0001583	missense	2870				regulation of G-protein coupled receptor protein signaling pathway	membrane	ATP binding|G-protein coupled receptor kinase activity|signal transducer activity	g.chr5:176859091G>A		CCDS34303.1, CCDS43406.1, CCDS47348.1	5q35	2011-01-14	2004-02-04	2004-02-06	ENSG00000198055	ENSG00000198055			4545	protein-coding gene	gene with protein product		600869		GPRK6		8415712	Standard	NM_002082		Approved		uc021yiu.1	P43250	OTTHUMG00000163401	ENST00000355472.5:c.244G>A	5.37:g.176859091G>A	ENSP00000347655:p.Ala82Thr					GRK6_ENST00000528793.1_Missense_Mutation_p.A82T|GRK6_ENST00000355958.5_Missense_Mutation_p.A82T|GRK6_ENST00000393576.3_Missense_Mutation_p.A82T|GRK6_ENST00000507633.1_Missense_Mutation_p.A82T	p.A82T	NM_001004106.2|NM_002082.3	NP_001004106.1|NP_002073.2	P43250	GRK6_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		3	412	+	all_cancers(89;1.15e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	82			N-terminal.|RGS.		O60541|Q13652	Missense_Mutation	SNP	ENST00000355472.5	37	c.244G>A	CCDS34303.1	.	.	.	.	.	.	.	.	.	.	G	12.80	2.047044	0.36085	.	.	ENSG00000198055	ENST00000502598;ENST00000506296;ENST00000511244;ENST00000355472;ENST00000507633;ENST00000393576;ENST00000355958;ENST00000528793	T;T;T;T;T;T;T;T	0.01981	4.52;4.52;4.52;4.52;4.52;4.52;4.52;4.52	5.26	2.28	0.28536	Regulator of G protein signalling (3);Regulator of G protein signalling superfamily (1);	0.409344	0.26883	N	0.022002	T	0.00998	0.0033	N	0.04880	-0.145	0.29643	N	0.844566	B;B;B;B	0.26041	0.02;0.021;0.09;0.14	B;B;B;B	0.14578	0.003;0.011;0.006;0.011	T	0.39881	-0.9592	10	0.30078	T	0.28	-14.3538	1.1054	0.01693	0.2691:0.1575:0.4118:0.1616	.	82;52;82;82	P43250;B3KPS5;P43250-2;D6RHX8	GRK6_HUMAN;.;.;.	T	50;50;50;82;82;82;82;82	ENSP00000422873:A50T;ENSP00000421055:A50T;ENSP00000425391:A50T;ENSP00000347655:A82T;ENSP00000427581:A82T;ENSP00000377204:A82T;ENSP00000348230:A82T;ENSP00000433511:A82T	ENSP00000347655:A82T	A	+	1	0	GRK6	176791697	0.000000	0.05858	0.889000	0.34880	0.559000	0.35586	0.739000	0.26173	1.214000	0.43395	-0.254000	0.11334	GCC		0.687	GRK6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000373204.1	NM_002082		23	42	0	0	0	1	0	23	42					A	176859091	G	A	176859091	3	1	94	1	0	0	0	0	1	0	0	0	6793	1087	38	1	254	1	GRK6	5	176859091	Missense_Mutation	SNP	G	TCGA-EJ-7782-01A-11D-2114-08	4268312	176859091	4056169	162	4981											
RANBP9	10048	broad.mit.edu	37	chr6	13644861	13644861	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggattttggttctccactccCgcatatagtcttctatatca	8	16	6	11	1	4	0	1	0	3	0	6	1	5	1	2	2	0	2	2	2	4	8	rs201882272		TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr6:13644861C>T	ENST00000011619.3	-	6	1086	c.1028G>A	c.(1027-1029)cGg>cAg	p.R343Q	RANBP9_ENST00000539980.1_Missense_Mutation_p.R114Q	NM_005493.2	NP_005484.2	Q96S59	RANB9_HUMAN	RAN binding protein 9	343					axon guidance (GO:0007411)|microtubule nucleation (GO:0007020)|protein complex assembly (GO:0006461)	cytosol (GO:0005829)|microtubule associated complex (GO:0005875)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|Ran GTPase binding (GO:0008536)	p.R343L(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|skin(1)	16	Breast(50;0.00669)|Ovarian(93;0.0634)	all_hematologic(90;0.117)	Epithelial(50;0.223)			TCTCCACTCCCGCATATAGTC	0.433																																						ENST00000011619.3																			1	Substitution - Missense(1)	p.R343L(1)	lung(1)	breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|skin(1)	16						c.(1027-1029)cGg>cAg		RAN binding protein 9							139	131	134					6																	13644861		2203	4300	6503	SO:0001583	missense	10048				axon guidance|microtubule nucleation|protein complex assembly	cytosol|microtubule associated complex|nucleus	Ran GTPase binding	g.chr6:13644861C>T	AB008515	CCDS4529.1	6p23	2010-05-25			ENSG00000010017	ENSG00000010017			13727	protein-coding gene	gene with protein product	"Ran Binding Protein in the Microtubule organizing center"	603854				9817760	Standard	NM_005493		Approved	RanBPM	uc003nbb.3	Q96S59	OTTHUMG00000015642	ENST00000011619.3:c.1028G>A	6.37:g.13644861C>T	ENSP00000011619:p.Arg343Gln					RANBP9_ENST00000539980.1_Missense_Mutation_p.R114Q	p.R343Q	NM_005493.2	NP_005484.2	Q96S59	RANB9_HUMAN	Epithelial(50;0.223)		6	1086	-	Breast(50;0.00669)|Ovarian(93;0.0634)	all_hematologic(90;0.117)	343					A0PJA2|B2R8E1|O94764|Q6P3T7|Q7LBR2|Q7Z7F9	Missense_Mutation	SNP	ENST00000011619.3	37	c.1028G>A	CCDS4529.1	.	.	.	.	.	.	.	.	.	.	C	23.7	4.450270	0.84101	.	.	ENSG00000010017	ENST00000011619;ENST00000539980	T;T	0.60299	0.2;0.2	5.17	5.17	0.71159	Concanavalin A-like lectin/glucanase (1);	0.000000	0.85682	D	0.000000	T	0.67468	0.2896	L	0.58101	1.795	0.80722	D	1	D	0.76494	0.999	D	0.72625	0.978	T	0.64495	-0.6394	10	0.38643	T	0.18	-12.8075	19.037	0.92983	0.0:1.0:0.0:0.0	.	343	Q96S59	RANB9_HUMAN	Q	343;114	ENSP00000011619:R343Q;ENSP00000438162:R114Q	ENSP00000011619:R343Q	R	-	2	0	RANBP9	13752840	1.000000	0.71417	0.973000	0.42090	0.995000	0.86356	7.776000	0.85560	2.557000	0.86248	0.557000	0.71058	CGG		0.433	RANBP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042373.1			23	61	0	0	0	1	0	23	61					T	13644861	C	T	13644861	3	4	94	1	0	0	0	0	1	0	0	0	13032	652	23	2	1197	2	RANBP9	6	13644861	Missense_Mutation	SNP	C	TCGA-EJ-7782-01A-11D-2114-08		13644861	157470206	163	4982											
BTN2A2	10385	broad.mit.edu	37	chr6	26385530	26385530	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cccaggagaatgggatctacCgctgttacttccaagaaggc	11	8	11	11	1	1	2	0	0	1	2	2	4	2	3	3	3	2	2	3	3	5	3	rs555925050	byFrequency	TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr6:26385530C>T	ENST00000356709.4	+	3	493	c.382C>T	c.(382-384)Cgc>Tgc	p.R128C	BTN2A2_ENST00000352867.2_Intron|BTN2A2_ENST00000432533.2_Missense_Mutation_p.R128C|BTN2A2_ENST00000469230.1_Missense_Mutation_p.R128C|BTN2A2_ENST00000416795.2_Missense_Mutation_p.R128C|BTN2A2_ENST00000482536.1_Intron	NM_001197240.1|NM_006995.4	NP_001184169.1|NP_008926.2	Q8WVV5	BT2A2_HUMAN	butyrophilin, subfamily 2, member A2	128	Ig-like V-type.				negative regulation of activated T cell proliferation (GO:0046007)|negative regulation of cellular metabolic process (GO:0031324)|negative regulation of cytokine secretion (GO:0050710)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(2)|endometrium(3)|large_intestine(5)|lung(13)	23						TGGGATCTACCGCTGTTACTT	0.517													c|||	2	0.000399361	0	0	5008	,	,		20895	0		0	False		,,,				2504	0.002					ENST00000356709.4																			0				breast(2)|endometrium(3)|large_intestine(5)|lung(13)	23						c.(382-384)Cgc>Tgc		butyrophilin, subfamily 2, member A2							109	90	97					6																	26385530		2203	4300	6503	SO:0001583	missense	10385				negative regulation of activated T cell proliferation|negative regulation of cellular metabolic process|negative regulation of cytokine secretion	integral to membrane		g.chr6:26385530C>T	U90550	CCDS4606.1, CCDS4607.1, CCDS56401.1, CCDS56402.1, CCDS56403.1	6p22.1	2014-01-14			ENSG00000124508	ENSG00000124508		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Butyrophilins"	1137	protein-coding gene	gene with protein product		613591				10354554, 9149941	Standard	NM_006995		Approved	BTF2, BT2.2, BTN2.2	uc003nhq.3	Q8WVV5	OTTHUMG00000014452	ENST00000356709.4:c.382C>T	6.37:g.26385530C>T	ENSP00000349143:p.Arg128Cys					BTN2A2_ENST00000482536.1_Intron|BTN2A2_ENST00000469230.1_Missense_Mutation_p.R128C|BTN2A2_ENST00000352867.2_Intron|BTN2A2_ENST00000432533.2_Missense_Mutation_p.R128C|BTN2A2_ENST00000416795.2_Missense_Mutation_p.R128C	p.R128C	NM_001197240.1|NM_006995.4	NP_001184169.1|NP_008926.2	Q8WVV5	BT2A2_HUMAN			3	493	+			128			Ig-like V-type.		A6NM84|B4DE97|B4DQ01|E9PH07|O00480	Missense_Mutation	SNP	ENST00000356709.4	37	c.382C>T	CCDS4606.1	.	.	.	.	.	.	.	.	.	.	t	9.588	1.125504	0.20959	.	.	ENSG00000124508	ENST00000469230;ENST00000356709;ENST00000493275;ENST00000432533;ENST00000416795	T;T;T;T;T	0.65916	-0.18;-0.18;-0.18;-0.18;-0.18	3.75	0.899	0.19271	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	1.363710	0.04587	N	0.395975	T	0.26774	0.0655	L	0.32530	0.975	0.19300	N	0.999975	B;B;B	0.24920	0.034;0.035;0.114	B;B;B	0.27608	0.006;0.013;0.081	T	0.16571	-1.0398	10	0.37606	T	0.19	.	3.2301	0.06745	0.184:0.4865:0.0:0.3296	.	128;128;128	B4DQ01;Q8WVV5-2;Q8WVV5	.;.;BT2A2_HUMAN	C	128	ENSP00000417472:R128C;ENSP00000349143:R128C;ENSP00000418857:R128C;ENSP00000394241:R128C;ENSP00000399308:R128C	ENSP00000349143:R128C	R	+	1	0	BTN2A2	26493509	0.000000	0.05858	0.823000	0.32752	0.782000	0.44232	-0.575000	0.05861	-0.156000	0.11079	-0.384000	0.06662	CGC		0.517	BTN2A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040117.1			11	17	0	0	0	1	0	11	17					T	26385530	C	T	26385530	3	4	94	1	0	0	0	0	1	0	0	0	1561	652	23	2	388	2	BTN2A2	6	26385530	Missense_Mutation	SNP	C	TCGA-EJ-7782-01A-11D-2114-08	12740669	26385530	144729537	164	4983											
DHX16	8449	broad.mit.edu	37	chr6	30630690	30630690	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gttccctagaaatctcacctCattcccaagcttcacaccca	11	10	3	17	0	3	1	3	0	1	1	6	1	5	1	4	0	1	2	4	0	3	4			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr6:30630690C>T	ENST00000376442.3	-	8	1621	c.1426G>A	c.(1426-1428)Gag>Aag	p.E476K	DHX16_ENST00000480966.1_5'Flank|DHX16_ENST00000376437.5_5'Flank	NM_001164239.1|NM_003587.4	NP_001157711.1|NP_003578.2	O60231	DHX16_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 16	476	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724)			kidney(2)|ovary(2)	4						AATCTCACCTCATTCCCAAGC	0.587																																						ENST00000376442.3																			0				kidney(2)|ovary(2)	4						c.(1426-1428)Gag>Aag		DEAH (Asp-Glu-Ala-His) box polypeptide 16							51	61	57					6																	30630690		1509	2707	4216	SO:0001583	missense	8449				mRNA processing|RNA splicing	nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|RNA helicase activity	g.chr6:30630690C>T	AB001601	CCDS4685.1	6p21.3	2010-02-17	2003-06-13	2003-06-20	ENSG00000204560	ENSG00000204560		"DEAH-boxes"	2739	protein-coding gene	gene with protein product		603405	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 16"	DDX16		9547260	Standard	NM_003587		Approved	DBP2, Prp2, PRPF2	uc003nqz.3	O60231	OTTHUMG00000031060	ENST00000376442.3:c.1426G>A	6.37:g.30630690C>T	ENSP00000365625:p.Glu476Lys						p.E476K	NM_001164239.1|NM_003587.4	NP_001157711.1|NP_003578.2	O60231	DHX16_HUMAN			8	1621	-			476			Helicase ATP-binding.		O60322|Q5JP45|Q969X7|Q96QC1	Missense_Mutation	SNP	ENST00000376442.3	37	c.1426G>A	CCDS4685.1	.	.	.	.	.	.	.	.	.	.	C	36	5.931048	0.97116	.	.	ENSG00000204560	ENST00000376442	T	0.29655	1.56	5.91	5.91	0.95273	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.118480	0.56097	D	0.000022	T	0.50769	0.1635	M	0.80332	2.49	0.80722	D	1	D;P	0.55605	0.972;0.786	P;P	0.61070	0.883;0.665	T	0.53683	-0.8404	10	0.87932	D	0	.	19.0726	0.93145	0.0:1.0:0.0:0.0	.	416;476	B4DZ28;O60231	.;DHX16_HUMAN	K	476	ENSP00000365625:E476K	ENSP00000365625:E476K	E	-	1	0	DHX16	30738669	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.255000	0.78338	2.809000	0.96659	0.555000	0.69702	GAG		0.587	DHX16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076076.2	NM_003587		10	34	0	0	0	1	0	10	34					T	30630690	C	T	30630690	3	4	94	1	0	0	0	0	1	0	0	0	4502	835	29	3	1751	3	DHX16	6	30630690	Missense_Mutation	SNP	C	TCGA-EJ-7782-01A-11D-2114-08	4245160	30630690	140484377	165	4984											
FOXP4	116113	broad.mit.edu	37	chr6	41555240	41555240	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agcctactgtgctcacatctCggagagacaggtacaggggt	10	8	13	10	1	2	1	1	0	1	1	3	3	2	2	1	4	4	2	1	4	2	2	rs142575732	byFrequency	TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr6:41555240C>T	ENST00000307972.4	+	6	874	c.862C>T	c.(862-864)Cgg>Tgg	p.R288W	FOXP4_ENST00000409208.1_Missense_Mutation_p.R288W|FOXP4_ENST00000373060.1_Missense_Mutation_p.R288W|FOXP4_ENST00000373057.3_Missense_Mutation_p.R286W|FOXP4_ENST00000373063.3_Missense_Mutation_p.R287W			Q8IVH2	FOXP4_HUMAN	forkhead box P4	288					embryonic foregut morphogenesis (GO:0048617)|heart development (GO:0007507)|lung secretory cell differentiation (GO:0061140)|negative regulation of lung goblet cell differentiation (GO:1901250)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	16	Ovarian(28;0.0327)|Colorectal(47;0.196)					GCTCACATCTCGGAGAGACAG	0.672											OREG0004065	type=REGULATORY REGION|Gene=FOXP4|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																										ENST00000373060.1																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	16						c.(862-864)Cgg>Tgg		forkhead box P4		C	TRP/ARG,TRP/ARG,TRP/ARG	0,4406		0,0,2203	51	56	54		862,856,859	4	1	6	dbSNP_134	54	7,8593	5.7+/-21.5	0,7,4293	yes	missense,missense,missense	FOXP4	NM_001012426.1,NM_001012427.1,NM_138457.2	101,101,101	0,7,6496	TT,TC,CC		0.0814,0.0,0.0538	probably-damaging,probably-damaging,probably-damaging	288/681,286/679,287/668	41555240	7,12999	2203	4300	6503	SO:0001583	missense	116113				embryonic foregut morphogenesis|heart development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding	g.chr6:41555240C>T	AB080747	CCDS4856.1, CCDS34447.1, CCDS34448.1	6p21.1	2008-02-05			ENSG00000137166	ENSG00000137166		"Forkhead boxes"	20842	protein-coding gene	gene with protein product		608924					Standard	XM_006714991		Approved	FLJ40908	uc003oql.3	Q8IVH2	OTTHUMG00000014679	ENST00000307972.4:c.862C>T	6.37:g.41555240C>T	ENSP00000309823:p.Arg288Trp		OREG0004065	type=REGULATORY REGION|Gene=FOXP4|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	902	FOXP4_ENST00000373057.3_Missense_Mutation_p.R286W|FOXP4_ENST00000409208.1_Missense_Mutation_p.R288W|FOXP4_ENST00000373063.3_Missense_Mutation_p.R287W|FOXP4_ENST00000307972.4_Missense_Mutation_p.R288W	p.R288W	NM_001012426.1|NM_001012427.1	NP_001012426.1|NP_001012427.1	Q8IVH2	FOXP4_HUMAN			7	1320	+	Ovarian(28;0.0327)|Colorectal(47;0.196)		288					Q5W098|Q7Z7F8|Q8IW55|Q96E19	Missense_Mutation	SNP	ENST00000307972.4	37	c.862C>T	CCDS34447.1	.	.	.	.	.	.	.	.	.	.	C	11.40	1.627328	0.28978	0.0	8.14E-4	ENSG00000137166	ENST00000373060;ENST00000373063;ENST00000409208;ENST00000373057;ENST00000307972	T;T;T;T;T	0.43688	0.94;0.94;0.94;0.94;0.94	4.83	3.95	0.45737	.	0.365524	0.23622	N	0.046224	T	0.48822	0.1521	M	0.70275	2.135	0.30705	N	0.749847	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.74674	0.984;0.984;0.973	T	0.51332	-0.8719	10	0.87932	D	0	.	10.7983	0.46474	0.4287:0.5713:0.0:0.0	.	287;286;288	Q8IW55;Q7Z7F8;Q8IVH2	.;.;FOXP4_HUMAN	W	288;287;288;286;288	ENSP00000362151:R288W;ENSP00000362154:R287W;ENSP00000386958:R288W;ENSP00000362148:R286W;ENSP00000309823:R288W	ENSP00000309823:R288W	R	+	1	2	FOXP4	41663218	1.000000	0.71417	0.991000	0.47740	0.034000	0.12701	5.876000	0.69667	1.229000	0.43630	-0.282000	0.10007	CGG		0.672	FOXP4-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000106767.1	NM_138457		6	51	0	0	0	1	0	6	51					T	41555240	C	T	41555240	3	4	94	1	0	0	0	0	1	0	0	0	6029	875	31	2	884	2	FOXP4	6	41555240	Missense_Mutation	SNP	C	TCGA-EJ-7782-01A-11D-2114-08	10924550	41555240	129559827	166	4985											
KIAA0240	23506	broad.mit.edu	37	chr6	42832714	42832714	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtctgaagagaaggccagcCggagagagcctctgaaggcc	11	4	15	11	2	2	4	0	2	2	2	2	7	2	5	4	3	2	0	4	3	3	0	rs575050000		TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr6:42832714C>T	ENST00000314073.5	+	13	2946	c.2770C>T	c.(2770-2772)Cgg>Tgg	p.R924W	GLTSCR1L_ENST00000394168.1_Missense_Mutation_p.R924W			Q6AI39	GSC1L_HUMAN	GLTSCR1-like	924																	GAAGGCCAGCCGGAGAGAGCC	0.517													C|||	1	0.000199681	0	0	5008	,	,		19163	0		0	False		,,,				2504	0.001					ENST00000314073.5																			0											c.(2770-2772)Cgg>Tgg		GLTSCR1-like							46	47	47					6																	42832714		2203	4300	6503	SO:0001583	missense	23506							g.chr6:42832714C>T	AL833540	CCDS34451.1	6p21.1	2012-11-29	2012-11-29	2012-11-29	ENSG00000112624	ENSG00000112624			21111	protein-coding gene	gene with protein product			"KIAA0240"	KIAA0240			Standard	XM_005248972		Approved		uc003osp.1	Q6AI39	OTTHUMG00000014706	ENST00000314073.5:c.2770C>T	6.37:g.42832714C>T	ENSP00000313933:p.Arg924Trp					GLTSCR1L_ENST00000394168.1_Missense_Mutation_p.R924W	p.R924W							13	2946	+								A1L3W2|Q5TFZ3|Q92514	Missense_Mutation	SNP	ENST00000314073.5	37	c.2770C>T	CCDS34451.1	.	.	.	.	.	.	.	.	.	.	C	18.69	3.677668	0.68042	.	.	ENSG00000112624	ENST00000394167;ENST00000314073;ENST00000394168	T;T	0.49139	0.79;0.79	5.34	3.45	0.39498	.	0.348813	0.26119	N	0.026233	T	0.17619	0.0423	L	0.27053	0.805	0.28239	N	0.925787	D	0.60160	0.987	B	0.43783	0.431	T	0.20605	-1.0270	10	0.62326	D	0.03	-8.4964	3.9461	0.09349	0.1312:0.5109:0.2671:0.0908	.	924	Q6AI39	K0240_HUMAN	W	924	ENSP00000313933:R924W;ENSP00000377723:R924W	ENSP00000313933:R924W	R	+	1	2	KIAA0240	42940692	0.950000	0.32346	0.972000	0.41901	0.980000	0.70556	1.411000	0.34702	2.651000	0.90000	0.650000	0.86243	CGG		0.517	GLTSCR1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040562.3	NM_015349		6	34	0	0	0	1	0	6	34					T	42832714	C	T	42832714	3	4	94	1	0	0	0	0	1	0	0	0	8164	643	23	2	2812	2	KIAA0240	6	42832714	Missense_Mutation	SNP	C	TCGA-EJ-7782-01A-11D-2114-08	1277474	42832714	128282353	167	4986											
AARS2	202500	broad.mit.edu	37	chr6	44268380	44268380	+	5'Flank	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccaccactcgtgagccccaCgccttgccccccatgtggct	5	7	9	20	2	0	1	0	1	0	0	1	1	0	1	8	1	2	1	8	1	0	1	rs142694525		TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr6:44268380C>T	ENST00000371505.4	-	0	0				AARS2_ENST00000244571.4_Silent_p.A954A|TMEM151B_ENST00000438774.2_Intron|AARS2_ENST00000491573.1_5'UTR|TCTE1_ENST00000371503.3_5'Flank|RP11-444E17.6_ENST00000505802.1_Intron	NM_182539.3	NP_872345.2	Q5JU00	TCTE1_HUMAN	t-complex-associated-testis-expressed 1											breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			GTGAGCCCCACGCCTTGCCCC	0.612													C|||	1	0.000199681	0	0	5008	,	,		19615	0		0.001	False		,,,				2504	0					ENST00000244571.4																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(2)|stomach(1)	34						c.(2860-2862)gcG>gcA		alanyl-tRNA synthetase 2, mitochondrial	L-Alanine(DB00160)						77	66	70					6																	44268380		2203	4300	6503	SO:0001631	upstream_gene_variant	57505				alanyl-tRNA aminoacylation	mitochondrion	alanine-tRNA ligase activity|ATP binding|metal ion binding|tRNA binding	g.chr6:44268380C>T	BC035022	CCDS4910.1	6q21.1	2014-07-18			ENSG00000146221	ENSG00000146221			11693	protein-coding gene	gene with protein product		186975				2568335, 8646886	Standard	NM_182539		Approved	D6S46, MGC33600, FAP155	uc003oxi.2	Q5JU00	OTTHUMG00000014763		6.37:g.44268380C>T	Exception_encountered					TMEM151B_ENST00000438774.2_Intron|AARS2_ENST00000491573.1_5'UTR	p.A954A	NM_020745.3	NP_065796.1	Q5JTZ9	SYAM_HUMAN	Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		22	2864	-	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		954					B4DX59|Q8IYS6	Silent	SNP	ENST00000371505.4	37	c.2862G>A	CCDS4910.1																																																																																				0.612	TCTE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040736.1	NM_182539		18	42	0	0	0	1	0	18	42					T	44268380	C	T	44268380	1	4	94	0	1	0	0	0	0	0	0	0	20	523	19	1		1	AARS2	6	44268380	5'Flank	SNP	C	TCGA-EJ-7782-01A-11D-2114-08	1435666	44268380	126846687	168	4987											
TDRD6	221400	broad.mit.edu	37	chr6	46660414	46660415	+	Frame_Shift_Ins	INS	-	-	A																															tcttaactggtataatccagINSaaaaaaaaatgataagagct																								rs145334816		TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr6:46660414_46660415insA	ENST00000316081.6	+	1	4549_4550	c.4549_4550insA	c.(4549-4551)gaafs	p.E1517fs	TDRD6_ENST00000544460.1_Frame_Shift_Ins_p.E1517fs	NM_001010870.2	NP_001010870.1	O60522	TDRD6_HUMAN	tudor domain containing 6	1517					germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|P granule (GO:0043186)				NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80			Lung(136;0.192)			GTATAATCCAGAAAAAAAAATG	0.351																																						ENST00000544460.1																			0				NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						c.(4549-4551)aaafs		tudor domain containing 6																																				SO:0001589	frameshift_variant	221400				cell differentiation|multicellular organismal development|spermatogenesis	chromatoid body	nucleic acid binding	g.chr6:46660414_46660415insA	AF039442	CCDS34470.1, CCDS55017.1	6p12.3	2013-01-23			ENSG00000180113	ENSG00000180113		"Tudor domain containing"	21339	protein-coding gene	gene with protein product	"cancer/testis antigen 41.2", "spermatogenesis associated 36"	611200				9610721	Standard	NM_001010870		Approved	NY-CO-45, bA446F17.4, CT41.2, SPATA36	uc003oyj.3	O60522	OTTHUMG00000014788	ENST00000316081.6:c.4558dupA	6.37:g.46660423_46660423dupA	ENSP00000346065:p.Glu1517fs					TDRD6_ENST00000316081.6_Frame_Shift_Ins_p.K1517fs	p.K1517fs	NM_001168359.1	NP_001161831.1	O60522	TDRD6_HUMAN	Lung(136;0.192)		1	4803_4804	+			1517					B3KWU2|F5H5M3|Q5HYB1|Q5VTS4|Q6ZMX5	Frame_Shift_Ins	INS	ENST00000316081.6	37	c.4549_4550insA	CCDS34470.1																																																																																				0.351	TDRD6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040800.1	XM_166443		8	90						8	90	---	---	---	---	A	46660415	-	A	46660414	7	5	94	1	0	1	1	0	0	0	0	0	15731	943	33	0	4551	0	TDRD6	6	46660414	Frame_Shift_Ins	INS	-	TCGA-EJ-7782-01A-11D-2114-08	2392034	46660414	124454653	169	4988											
CNR1	1268	broad.mit.edu	37	chr6	88853864	88853864	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tactgcagaatgcaaacaccGtcttaatgagcttgttcatc	12	12	7	10	1	2	2	1	1	1	1	3	2	2	2	1	0	5	4	1	0	4	4			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr6:88853864G>A	ENST00000537554.1	-	2	4692	c.1130C>T	c.(1129-1131)aCg>aTg	p.T377M	CNR1_ENST00000362094.5_3'UTR|CNR1_ENST00000428600.2_Missense_Mutation_p.T377M|CNR1_ENST00000468898.1_Missense_Mutation_p.T344M|CNR1_ENST00000535130.1_Missense_Mutation_p.T377M|CNR1_ENST00000549716.1_Missense_Mutation_p.T316M|CNR1_ENST00000369499.2_Missense_Mutation_p.T377M|CNR1_ENST00000549890.1_Missense_Mutation_p.T377M|CNR1_ENST00000369501.2_Missense_Mutation_p.T377M	NM_001160226.1|NM_001160258.1	NP_001153698.1|NP_001153730.1	P21554	CNR1_HUMAN	cannabinoid receptor 1 (brain)	377					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|aging (GO:0007568)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|glucose homeostasis (GO:0042593)|maternal process involved in female pregnancy (GO:0060135)|memory (GO:0007613)|negative regulation of action potential (GO:0045759)|negative regulation of blood pressure (GO:0045776)|negative regulation of dopamine secretion (GO:0033602)|negative regulation of fatty acid beta-oxidation (GO:0031999)|negative regulation of mast cell activation (GO:0033004)|negative regulation of nitric-oxide synthase activity (GO:0051001)|positive regulation of acute inflammatory response to antigenic stimulus (GO:0002866)|positive regulation of apoptotic process (GO:0043065)|positive regulation of blood pressure (GO:0045777)|positive regulation of fever generation (GO:0031622)|positive regulation of neuron projection development (GO:0010976)|regulation of feeding behavior (GO:0060259)|regulation of insulin secretion (GO:0050796)|regulation of penile erection (GO:0060405)|regulation of synaptic transmission, GABAergic (GO:0032228)|regulation of synaptic transmission, glutamatergic (GO:0051966)|response to cocaine (GO:0042220)|response to ethanol (GO:0045471)|response to lipopolysaccharide (GO:0032496)|response to morphine (GO:0043278)|response to nicotine (GO:0035094)|response to nutrient (GO:0007584)|sensory perception of pain (GO:0019233)|spermatogenesis (GO:0007283)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cannabinoid receptor activity (GO:0004949)|drug binding (GO:0008144)	p.T377M(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|prostate(1)|skin(10)|urinary_tract(1)	37		all_cancers(76;8.24e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;4.11e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.00011)		BRCA - Breast invasive adenocarcinoma(108;0.15)	Dronabinol(DB00470)|Nabilone(DB00486)|Rimonabant(DB06155)	TGCAAACACCGTCTTAATGAG	0.522																																						ENST00000537554.1																			1	Substitution - Missense(1)	p.T377M(1)	large_intestine(1)	breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|prostate(1)|skin(10)|urinary_tract(1)	37						c.(1129-1131)aCg>aTg		cannabinoid receptor 1 (brain)	Marinol(DB00470)|Nabilone(DB00486)|Rimonabant(DB06155)						129	124	126					6																	88853864		2203	4300	6503	SO:0001583	missense	0				G-protein signaling, coupled to cAMP nucleotide second messenger	integral to plasma membrane	cannabinoid receptor activity|protein binding	g.chr6:88853864G>A	AF107262	CCDS5015.1, CCDS5016.1, CCDS5016.2	6q14-q15	2012-08-08			ENSG00000118432	ENSG00000118432		"GPCR / Class A : Cannabinoid receptors"	2159	protein-coding gene	gene with protein product		114610		CNR			Standard	NM_016083		Approved	CB1K5, CB-R, CB1, CANN6, CB1A	uc003pmq.4	P21554	OTTHUMG00000015184	ENST00000537554.1:c.1130C>T	6.37:g.88853864G>A	ENSP00000441046:p.Thr377Met					CNR1_ENST00000468898.1_Missense_Mutation_p.T344M|CNR1_ENST00000369501.2_Missense_Mutation_p.T377M|CNR1_ENST00000549890.1_Missense_Mutation_p.T377M|CNR1_ENST00000362094.5_3'UTR|CNR1_ENST00000549716.1_Missense_Mutation_p.T316M|CNR1_ENST00000369499.2_Missense_Mutation_p.T377M|CNR1_ENST00000535130.1_Missense_Mutation_p.T377M|CNR1_ENST00000428600.2_Missense_Mutation_p.T377M	p.T377M	NM_001160226.1|NM_001160258.1	NP_001153698.1|NP_001153730.1	P21554	CNR1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.15)	2	4692	-		all_cancers(76;8.24e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;4.11e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.00011)	377					B2R9T4|E1P512|Q13949|Q495Z0|Q4PLI4|Q4VBM6|Q5JVL5|Q5UB37|Q9UNN0	Missense_Mutation	SNP	ENST00000537554.1	37	c.1130C>T	CCDS5015.1	.	.	.	.	.	.	.	.	.	.	G	15.37	2.812190	0.50527	.	.	ENSG00000118432	ENST00000369501;ENST00000535130;ENST00000537554;ENST00000369499;ENST00000549890;ENST00000468898;ENST00000428600;ENST00000549716	T;T;T;T;T;T;T;T	0.37752	1.18;1.18;1.18;1.18;1.18;1.18;1.18;1.18	6.05	6.05	0.98169	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.49270	0.1547	L	0.43646	1.37	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.98	T	0.42032	-0.9475	10	0.62326	D	0.03	.	20.6086	0.99469	0.0:0.0:1.0:0.0	.	344;377	P21554-3;P21554	.;CNR1_HUMAN	M	377;377;377;377;377;344;377;316	ENSP00000358513:T377M;ENSP00000442689:T377M;ENSP00000441046:T377M;ENSP00000358511:T377M;ENSP00000446819:T377M;ENSP00000420188:T344M;ENSP00000412192:T377M;ENSP00000449549:T316M	ENSP00000358511:T377M	T	-	2	0	CNR1	88910583	1.000000	0.71417	1.000000	0.80357	0.630000	0.37929	7.876000	0.87215	2.880000	0.98712	0.655000	0.94253	ACG		0.522	CNR1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354204.2			7	52	0	0	0	1	0	7	52					A	88853864	G	A	88853864	3	1	94	1	0	0	0	0	1	0	0	0	3631	1145	40	1	292	1	CNR1	6	88853864	Missense_Mutation	SNP	G	TCGA-EJ-7782-01A-11D-2114-08	42193450	88853864	82261203	170	4989											
USP45	85015	broad.mit.edu	37	chr6	99885247	99885247	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccactatgccatagagaccgTagagaactttatctcccaca	13	9	6	13	1	1	2	0	0	1	2	2	4	1	2	4	0	2	1	4	0	5	5			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr6:99885247T>C	ENST00000327681.6	-	17	2721	c.2189A>G	c.(2188-2190)tAc>tGc	p.Y730C	USP45_ENST00000392738.2_Missense_Mutation_p.Y410C|USP45_ENST00000500704.2_Missense_Mutation_p.Y730C|USP45_ENST00000369233.2_Missense_Mutation_p.Y682C|USP45_ENST00000539675.1_Missense_Mutation_p.Y23C	NM_001080481.1	NP_001073950.1	Q70EL2	UBP45_HUMAN	ubiquitin specific peptidase 45	730	USP.				protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(6)|lung(2)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	22		all_cancers(76;0.000208)|Acute lymphoblastic leukemia(125;8.41e-11)|all_hematologic(75;2.56e-07)|all_epithelial(107;0.122)|Colorectal(196;0.133)		BRCA - Breast invasive adenocarcinoma(108;0.0718)		ATAGAGACCGTAGAGAACTTT	0.363																																						ENST00000327681.6																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(6)|lung(2)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	22						c.(2188-2190)tAc>tGc		ubiquitin specific peptidase 45							113	100	105					6																	99885247		2203	4300	6503	SO:0001583	missense	85015				ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity|zinc ion binding	g.chr6:99885247T>C	AL832030	CCDS34501.1	6q16.2	2008-02-05	2005-08-08		ENSG00000123552	ENSG00000123552		"Ubiquitin-specific peptidases"	20080	protein-coding gene	gene with protein product			"ubiquitin specific protease 45"			12838346	Standard	NM_001080481		Approved	MGC14793	uc003ppx.2	Q70EL2	OTTHUMG00000015267	ENST00000327681.6:c.2189A>G	6.37:g.99885247T>C	ENSP00000333376:p.Tyr730Cys					USP45_ENST00000369233.2_Missense_Mutation_p.Y682C|USP45_ENST00000500704.2_Missense_Mutation_p.Y730C|USP45_ENST00000539675.1_Missense_Mutation_p.Y23C|USP45_ENST00000392738.2_Missense_Mutation_p.Y410C	p.Y730C	NM_001080481.1	NP_001073950.1	Q70EL2	UBP45_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0718)	17	2721	-		all_cancers(76;0.000208)|Acute lymphoblastic leukemia(125;8.41e-11)|all_hematologic(75;2.56e-07)|all_epithelial(107;0.122)|Colorectal(196;0.133)	730					B2RXG0|Q5T062|Q86T44|Q86TC0|Q9BRU1	Missense_Mutation	SNP	ENST00000327681.6	37	c.2189A>G	CCDS34501.1	.	.	.	.	.	.	.	.	.	.	T	15.19	2.760722	0.49468	.	.	ENSG00000123552	ENST00000392738;ENST00000500704;ENST00000327681;ENST00000539675;ENST00000369233	T;T;T;T;T	0.74632	-0.86;1.95;1.95;-0.86;-0.86	5.65	4.49	0.54785	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2, conserved site (1);Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.073354	0.56097	N	0.000025	D	0.87845	0.6280	H	0.97186	3.955	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.90607	0.4549	10	0.87932	D	0	.	11.4189	0.49969	0.0:0.0707:0.0:0.9293	.	730;410	Q70EL2;Q70EL2-3	UBP45_HUMAN;.	C	410;730;730;23;682	ENSP00000376495:Y410C;ENSP00000424372:Y730C;ENSP00000333376:Y730C;ENSP00000439569:Y23C;ENSP00000358236:Y682C	ENSP00000333376:Y730C	Y	-	2	0	USP45	99991968	1.000000	0.71417	1.000000	0.80357	0.124000	0.20399	7.535000	0.82014	0.980000	0.38523	-0.326000	0.08463	TAC		0.363	USP45-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041609.2	NM_032929		15	19	0	0	0	1	0	15	19					C	99885247	T	C	99885247	3	2	94	1	0	0	0	0	1	0	0	0	17073	1638	57	4	263	4	USP45	6	99885247	Missense_Mutation	SNP	T	TCGA-EJ-7782-01A-11D-2114-08	11031383	99885247	71229820	171	4990											
LAMA4	3910	broad.mit.edu	37	chr6	112463376	112463376	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagtctcggtcagttccggcCgcttcacagggggtttcatg	5	11	13	12	3	4	0	3	0	1	0	6	0	5	0	2	4	0	3	2	4	0	3			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr6:112463376C>A	ENST00000230538.7	-	20	3009	c.2612G>T	c.(2611-2613)cGg>cTg	p.R871L	LAMA4_ENST00000522006.1_Missense_Mutation_p.R864L|LAMA4_ENST00000424408.2_Missense_Mutation_p.R864L|LAMA4_ENST00000389463.4_Missense_Mutation_p.R864L	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN	laminin, alpha 4	871	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				blood vessel development (GO:0001568)|brown fat cell differentiation (GO:0050873)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)	extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		CAGTTCCGGCCGCTTCACAGG	0.473																																						ENST00000230538.7																			0				NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100						c.(2611-2613)cGg>cTg		laminin, alpha 4							120	118	119					6																	112463376		2203	4300	6503	SO:0001583	missense	3910				cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	extracellular matrix structural constituent|receptor binding	g.chr6:112463376C>A		CCDS34514.1, CCDS43491.1, CCDS43492.1	6q21	2014-09-17			ENSG00000112769	ENSG00000112769		"Laminins"	6484	protein-coding gene	gene with protein product		600133				7959779	Standard	NM_001105206		Approved	LAMA3	uc003pvu.3	Q16363	OTTHUMG00000015386	ENST00000230538.7:c.2612G>T	6.37:g.112463376C>A	ENSP00000230538:p.Arg871Leu					LAMA4_ENST00000389463.4_Missense_Mutation_p.R864L|LAMA4_ENST00000424408.2_Missense_Mutation_p.R864L|LAMA4_ENST00000522006.1_Missense_Mutation_p.R864L	p.R871L	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)	20	3009	-		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)	871			Laminin G-like 1.		Q14731|Q14735|Q15335|Q4LE44|Q5SZG8|Q9BTB8|Q9UE18|Q9UJN9	Missense_Mutation	SNP	ENST00000230538.7	37	c.2612G>T	CCDS43491.1	.	.	.	.	.	.	.	.	.	.	C	8.883	0.952206	0.18431	.	.	ENSG00000112769	ENST00000230538;ENST00000522006;ENST00000389463;ENST00000424408	T;T;T;T	0.15017	2.47;2.46;2.46;2.46	6.16	-0.671	0.11381	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);	1.023750	0.07750	N	0.948347	T	0.02380	0.0073	N	0.08118	0	0.09310	N	0.999995	B;B	0.06786	0.001;0.001	B;B	0.01281	0.0;0.0	T	0.46857	-0.9161	10	0.31617	T	0.26	.	7.4918	0.27466	0.0:0.1218:0.348:0.5302	.	871;864	Q16363;Q16363-2	LAMA4_HUMAN;.	L	871;864;864;864	ENSP00000230538:R871L;ENSP00000429488:R864L;ENSP00000374114:R864L;ENSP00000416470:R864L	ENSP00000230538:R871L	R	-	2	0	LAMA4	112570069	0.051000	0.20477	0.036000	0.18154	0.001000	0.01503	-0.337000	0.07852	0.171000	0.19730	-1.258000	0.01471	CGG		0.473	LAMA4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041876.2	NM_001105206		17	38	1	0	1.5739e-10	1	1.67165e-10	17	38					A	112463376	C	A	112463376	3	1	94	1	0	0	0	0	1	0	0	0	8608	652	23	5	2939	5	LAMA4	6	112463376	Missense_Mutation	SNP	C	TCGA-EJ-7782-01A-11D-2114-08	12578129	112463376	58651691	172	4991											
C6orf174	387104	broad.mit.edu	37	chr6	127796901	127796901	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtcgctctccttcttgcccGcgtcgctctcggcgtcgctg	0	12	11	18	8	3	0	0	0	3	0	8	0	3	0	2	1	1	3	2	1	0	2			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr6:127796901G>A	ENST00000525778.1	-	6	3015	c.2270C>T	c.(2269-2271)gCg>gTg	p.A757V	SOGA3_ENST00000474293.2_5'Flank|SOGA3_ENST00000368268.2_Missense_Mutation_p.A757V|SOGA3_ENST00000481848.2_Missense_Mutation_p.A757V|SOGA3_ENST00000556132.1_Missense_Mutation_p.A757V|SOGA3_ENST00000465909.2_Missense_Mutation_p.A757V			Q5TF21	SOGA3_HUMAN	SOGA family member 3	757					regulation of autophagy (GO:0010506)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)											CTTCTTGCCCGCGTCGCTCTC	0.697																																						ENST00000556132.1																			0											c.(2269-2271)gCg>gTg		SOGA family member 3							39	46	44					6																	127796901		2130	4229	6359	SO:0001583	missense	387104					integral to membrane		g.chr6:127796901G>A	AK096490	CCDS43505.1	6q22.33	2013-03-28	2012-02-27	2012-02-27	ENSG00000214338	ENSG00000214338			21494	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 174"	C6orf174			Standard	NM_001012279		Approved	dJ403A15.3	uc003qbd.3	Q5TF21	OTTHUMG00000166438	ENST00000525778.1:c.2270C>T	6.37:g.127796901G>A	ENSP00000434570:p.Ala757Val					SOGA3_ENST00000481848.2_Missense_Mutation_p.A757V|SOGA3_ENST00000368268.2_Missense_Mutation_p.A757V|SOGA3_ENST00000465909.2_Missense_Mutation_p.A757V|SOGA3_ENST00000525778.1_Missense_Mutation_p.A757V	p.A757V	NM_001012279.2	NP_001012279.1	Q5TF21	CF174_HUMAN			6	3134	-			757						Missense_Mutation	SNP	ENST00000525778.1	37	c.2270C>T	CCDS43505.1	.	.	.	.	.	.	.	.	.	.	G	17.50	3.406340	0.62288	.	.	ENSG00000214338	ENST00000556132;ENST00000368268;ENST00000525778;ENST00000465909	T;T;T;T	0.32753	1.44;1.44;1.44;1.44	5.27	5.27	0.74061	.	0.285709	0.38005	N	0.001858	T	0.23249	0.0562	L	0.49126	1.545	0.48975	D	0.999737	P	0.48089	0.905	B	0.41440	0.357	T	0.06463	-1.0825	10	0.62326	D	0.03	-8.9632	18.91	0.92479	0.0:0.0:1.0:0.0	.	757	Q5TF21	CF174_HUMAN	V	757	ENSP00000451768:A757V;ENSP00000357251:A757V;ENSP00000434570:A757V;ENSP00000435559:A757V	ENSP00000435559:A757V	A	-	2	0	C6orf174	127838594	0.998000	0.40836	0.999000	0.59377	0.862000	0.49288	2.412000	0.44609	2.476000	0.83614	0.462000	0.41574	GCG		0.697	SOGA3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388246.1	NM_001012279		7	40	0	0	0	1	0	7	40					A	127796901	G	A	127796901	3	1	94	1	0	0	0	0	1	0	0	0	2345	1087	38	1	581	1	C6orf174	6	127796901	Missense_Mutation	SNP	G	TCGA-EJ-7782-01A-11D-2114-08	15333525	127796901	43318166	173	4992											
AKAP12	9590	broad.mit.edu	37	chr6	151673127	151673127	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tccatgaggagaatgaggtcGcatctggtacccagtcaggg	10	8	14	9	1	2	3	1	2	1	1	4	4	3	3	2	4	1	2	2	4	2	1			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr6:151673127G>A	ENST00000253332.1	+	3	3790	c.3601G>A	c.(3601-3603)Gca>Aca	p.A1201T	AKAP12_ENST00000359755.5_Missense_Mutation_p.A1096T|AKAP12_ENST00000402676.2_Missense_Mutation_p.A1201T|AKAP12_ENST00000354675.6_Missense_Mutation_p.A1103T			Q02952	AKA12_HUMAN	A kinase (PRKA) anchor protein 12	1201					G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of protein kinase A signaling (GO:0010739)|protein targeting (GO:0006605)|regulation of protein kinase C signaling (GO:0090036)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)	adenylate cyclase binding (GO:0008179)|protein kinase A binding (GO:0051018)			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	68		Ovarian(120;0.125)	BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.98e-11)		GAATGAGGTCGCATCTGGTAC	0.532																																					Melanoma(141;1616 1805 10049 24534 51979)	ENST00000402676.2																			0				breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	68						c.(3601-3603)Gca>Aca		A kinase (PRKA) anchor protein 12							76	74	74					6																	151673127		2203	4300	6503	SO:0001583	missense	9590				G-protein coupled receptor protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of protein kinase A signaling cascade|protein targeting	cell cortex|cytoskeleton|plasma membrane	adenylate cyclase binding|protein kinase A binding	g.chr6:151673127G>A	U81607	CCDS5229.1, CCDS5230.1	6q24-q25	2011-07-01	2008-08-29		ENSG00000131016	ENSG00000131016		"A-kinase anchor proteins"	370	protein-coding gene	gene with protein product	"gravin", "Src-Suppressed C Kinase Substrate"	604698	"A kinase (PRKA) anchor protein (gravin) 12"			9000000	Standard	NM_144497		Approved	AKAP250, SSeCKS	uc011eep.2	Q02952	OTTHUMG00000015833	ENST00000253332.1:c.3601G>A	6.37:g.151673127G>A	ENSP00000253332:p.Ala1201Thr					AKAP12_ENST00000359755.5_Missense_Mutation_p.A1096T|AKAP12_ENST00000354675.6_Missense_Mutation_p.A1103T|AKAP12_ENST00000253332.1_Missense_Mutation_p.A1201T	p.A1201T	NM_005100.3	NP_005091.2	Q02952	AKA12_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.98e-11)	4	3841	+		Ovarian(120;0.125)	1201					O00310|O00498|Q4LE68|Q5SZ80|Q5TGN1|Q68D82|Q99970	Missense_Mutation	SNP	ENST00000253332.1	37	c.3601G>A	CCDS5229.1	.	.	.	.	.	.	.	.	.	.	G	18.45	3.626944	0.66901	.	.	ENSG00000131016	ENST00000402676;ENST00000253332;ENST00000354675;ENST00000359755	T;T;T;T	0.10573	2.86;2.86;2.89;2.89	5.08	3.27	0.37495	.	0.701912	0.11757	N	0.532518	T	0.02012	0.0063	L	0.34521	1.04	0.09310	N	1	B;B;B	0.32203	0.36;0.36;0.246	B;B;B	0.24155	0.051;0.051;0.023	T	0.46693	-0.9173	10	0.16896	T	0.51	.	7.5948	0.28041	0.1541:0.1464:0.6995:0.0	.	1096;1103;1201	Q02952-3;Q02952-2;Q02952	.;.;AKA12_HUMAN	T	1201;1201;1103;1096	ENSP00000384537:A1201T;ENSP00000253332:A1201T;ENSP00000346702:A1103T;ENSP00000352794:A1096T	ENSP00000253332:A1201T	A	+	1	0	AKAP12	151714820	0.007000	0.16637	0.000000	0.03702	0.358000	0.29455	1.513000	0.35823	0.518000	0.28383	0.455000	0.32223	GCA		0.532	AKAP12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042712.1			5	75	0	0	0	1	0	5	75					A	151673127	G	A	151673127	3	1	94	1	0	0	0	0	1	0	0	0	448	1087	38	1	3640	1	AKAP12	6	151673127	Missense_Mutation	SNP	G	TCGA-EJ-7782-01A-11D-2114-08	23876226	151673127	19441940	174	4993											
ZBTB2	57621	broad.mit.edu	37	chr6	151686671	151686671	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gacattcagtctagtaagacGgtttcttgttcctttttgat	8	18	8	7	1	3	2	1	1	2	1	4	3	4	2	1	1	0	3	1	1	2	8	rs377600897		TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr6:151686671G>A	ENST00000325144.4	-	3	1670	c.1530C>T	c.(1528-1530)acC>acT	p.T510T		NM_020861.1	NP_065912.1	Q8N680	ZBTB2_HUMAN	zinc finger and BTB domain containing 2	510					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|large_intestine(2)|lung(6)|skin(1)	12			BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.63e-11)		CTAGTAAGACGGTTTCTTGTT	0.448																																						ENST00000325144.4																			0				breast(1)|endometrium(2)|large_intestine(2)|lung(6)|skin(1)	12						c.(1528-1530)acC>acT		zinc finger and BTB domain containing 2		G		0,4406		0,0,2203	115	111	113		1530	-8.8	0.6	6		113	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	ZBTB2	NM_020861.1		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		510/515	151686671	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	57621				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:151686671G>A	BC020172	CCDS5231.1	6q25.1	2013-01-09			ENSG00000181472	ENSG00000181472		"-", "BTB/POZ domain containing", "Zinc fingers, C2H2-type"	20868	protein-coding gene	gene with protein product						10819331	Standard	NM_020861		Approved	KIAA1483, ZNF437, bA351K16.2	uc003qoh.3	Q8N680	OTTHUMG00000015834	ENST00000325144.4:c.1530C>T	6.37:g.151686671G>A							p.T510T	NM_020861.1	NP_065912.1	Q8N680	ZBTB2_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.63e-11)	3	1670	-			510					A8K7C7|Q5SZ81|Q9P245	Silent	SNP	ENST00000325144.4	37	c.1530C>T	CCDS5231.1																																																																																				0.448	ZBTB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042715.1	NM_020861		25	60	0	0	0	1	0	25	60					A	151686671	G	A	151686671	2	1	94	1	0	0	0	0	0	0	0	1	17525	1103	39	2		2	ZBTB2	6	151686671	Silent	SNP	G	TCGA-EJ-7782-01A-11D-2114-08	13544	151686671	19428396	175	4994											
CNKSR3	154043	broad.mit.edu	37	chr6	154727613	154727613	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcctggaatggaatcgtggCgctgctgtggagatctgagt	7	11	15	8	2	1	2	0	1	1	1	3	5	2	4	1	4	1	2	1	4	2	0			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr6:154727613C>T	ENST00000607772.1	-	13	2087	c.1543G>A	c.(1543-1545)Gcc>Acc	p.A515T	CNKSR3_ENST00000433165.2_Missense_Mutation_p.A340T|CNKSR3_ENST00000479339.1_Missense_Mutation_p.A435T	NM_173515.2	NP_775786.2	Q6P9H4	CNKR3_HUMAN	CNKSR family member 3	515	DUF1170.				negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)	cytoplasm (GO:0005737)|membrane (GO:0016020)				breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	15		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;5.03e-11)|BRCA - Breast invasive adenocarcinoma(81;0.00627)		GGAATCGTGGCGCTGCTGTGG	0.572																																						ENST00000607772.1																			0				breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	15						c.(1543-1545)Gcc>Acc		CNKSR family member 3							150	126	134					6																	154727613		2203	4300	6503	SO:0001583	missense	154043				negative regulation of ERK1 and ERK2 cascade|negative regulation of peptidyl-serine phosphorylation|positive regulation of sodium ion transport	cytoplasm|membrane		g.chr6:154727613C>T	AK055911	CCDS5246.1	6q25.2	2013-01-10	2005-04-11	2005-04-11	ENSG00000153721	ENSG00000153721		"Sterile alpha motif (SAM) domain containing"	23034	protein-coding gene	gene with protein product			"membrane associated guanylate kinase interacting protein-like 1"	MAGI1			Standard	NM_173515		Approved	FLJ31349		Q6P9H4	OTTHUMG00000015873	ENST00000607772.1:c.1543G>A	6.37:g.154727613C>T	ENSP00000475915:p.Ala515Thr					CNKSR3_ENST00000433165.2_Missense_Mutation_p.A340T|CNKSR3_ENST00000479339.1_Missense_Mutation_p.A435T	p.A515T	NM_173515.2	NP_775786.2	Q6P9H4	CNKR3_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.03e-11)|BRCA - Breast invasive adenocarcinoma(81;0.00627)	13	2087	-		Ovarian(120;0.196)	515			DUF1170.		Q5SGD5|Q96N65	Missense_Mutation	SNP	ENST00000607772.1	37	c.1543G>A	CCDS5246.1	.	.	.	.	.	.	.	.	.	.	C	28.6	4.937372	0.92458	.	.	ENSG00000153721	ENST00000367213;ENST00000433165;ENST00000479339	T;T;T	0.57436	1.06;0.4;0.43	4.93	4.93	0.64822	Connector enhancer of kinase suppressor of ras 2 (1);	0.057446	0.64402	D	0.000002	T	0.51669	0.1688	L	0.56769	1.78	0.32146	N	0.5849	D	0.63046	0.992	P	0.55345	0.774	T	0.57602	-0.7783	10	0.72032	D	0.01	.	13.4752	0.61303	0.1567:0.8433:0.0:0.0	.	515	Q6P9H4	CNKR3_HUMAN	T	515;340;435	ENSP00000356182:A515T;ENSP00000414185:A340T;ENSP00000418975:A435T	ENSP00000356182:A515T	A	-	1	0	CNKSR3	154769305	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.393000	0.59665	2.444000	0.82710	0.655000	0.94253	GCC		0.572	CNKSR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042792.2	NM_173515		4	60	0	0	0	1	0	4	60					T	154727613	C	T	154727613	3	4	94	1	0	0	0	0	1	0	0	0	3608	768	27	1	128	1	CNKSR3	6	154727613	Missense_Mutation	SNP	C	TCGA-EJ-7782-01A-11D-2114-08	3040942	154727613	16387454	176	4995											
TCP1	6950	broad.mit.edu	37	chr6	160209177	160209178	+	Splice_Site	DEL	TG	TG	-																															atcgaagctgcagccataacTgtagacaatcaattaaaaat																										TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr6:160209177_160209178delTG	ENST00000321394.7	-	2	345		c.e2-2		SNORA29_ENST00000384183.1_RNA|TCP1_ENST00000420894.2_Splice_Site|MRPL18_ENST00000367034.4_5'Flank|TCP1_ENST00000546023.1_5'Flank|TCP1_ENST00000392168.2_Intron|TCP1_ENST00000544255.1_Intron	NM_030752.2	NP_110379.2	P17987	TCPA_HUMAN	t-complex 1						'de novo' posttranslational protein folding (GO:0051084)|binding of sperm to zona pellucida (GO:0007339)|cellular protein metabolic process (GO:0044267)|protein folding (GO:0006457)|tubulin complex assembly (GO:0007021)	acrosomal vesicle (GO:0001669)|cell body (GO:0044297)|centrosome (GO:0005813)|chaperonin-containing T-complex (GO:0005832)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|nuclear heterochromatin (GO:0005720)|pericentriolar material (GO:0000242)|zona pellucida receptor complex (GO:0002199)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|unfolded protein binding (GO:0051082)			breast(1)|endometrium(4)|large_intestine(3)|lung(2)	10		Breast(66;1.53e-05)|Ovarian(120;0.024)		OV - Ovarian serous cystadenocarcinoma(65;4.05e-20)|BRCA - Breast invasive adenocarcinoma(81;1.1e-06)		CAGCCATAACTGTAGACAATCA	0.371																																						ENST00000321394.7																			0				breast(1)|endometrium(4)|large_intestine(3)|lung(2)	10						c.e2-2		t-complex 1																																				SO:0001630	splice_region_variant	6950				'de novo' posttranslational protein folding|tubulin complex assembly	cell junction|Golgi apparatus	ATP binding|unfolded protein binding	g.chr6:160209177_160209178delTG	X52882	CCDS5269.1, CCDS43522.1	6q25-q27	2012-10-02			ENSG00000120438	ENSG00000120438		"Heat Shock Proteins / Chaperonins"	11655	protein-coding gene	gene with protein product		186980				3476253, 3653076	Standard	NM_030752		Approved	D6S230E, CCT1, Ccta	uc003qsr.3	P17987	OTTHUMG00000015937	ENST00000321394.7:c.65-2CA>-	6.37:g.160209177_160209178delTG						TCP1_ENST00000420894.2_Splice_Site|TCP1_ENST00000392168.2_Intron|TCP1_ENST00000544255.1_Intron		NM_030752.2	NP_110379.2	P17987	TCPA_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;4.05e-20)|BRCA - Breast invasive adenocarcinoma(81;1.1e-06)	2	345	-		Breast(66;1.53e-05)|Ovarian(120;0.024)						E1P5B2|Q15556|Q5TCM3	Splice_Site	DEL	ENST00000321394.7	37		CCDS5269.1																																																																																				0.371	TCP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042917.2	NM_030752	Intron	9	42						9	42	---	---	---	---	-	160209178	TG	-	160209177	8	5	94	1	0	1	0	1	0	0	1	0	15706	1594	55	0	1651	0	TCP1	6	160209177	Splice_Site	DEL	TG	TCGA-EJ-7782-01A-11D-2114-08	5481564	160209177	10905890	177	4996											
C6orf118	168090	broad.mit.edu	37	chr6	165715064	165715064	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gctgccctcctcacctgctgCagctttctctcgtggcccgc	2	11	9	19	2	2	0	1	0	1	0	5	0	3	0	4	1	4	4	4	1	0	1			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr6:165715064C>T	ENST00000230301.8	-	2	767	c.747G>A	c.(745-747)ctG>ctA	p.L249L	C6orf118_ENST00000543069.1_Silent_p.L145L	NM_144980.3	NP_659417.2	Q5T5N4	CF118_HUMAN	chromosome 6 open reading frame 118	249										breast(1)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40		Breast(66;6.27e-05)|Ovarian(120;0.0228)|Prostate(117;0.0906)|all_neural(5;0.157)		OV - Ovarian serous cystadenocarcinoma(33;3.23e-18)|BRCA - Breast invasive adenocarcinoma(81;3.11e-06)|GBM - Glioblastoma multiforme(31;0.000313)		TCACCTGCTGCAGCTTTCTCT	0.607																																						ENST00000543069.1																			0				breast(1)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40						c.(433-435)ctG>ctA		chromosome 6 open reading frame 118							50	53	52					6																	165715064		2203	4300	6503	SO:0001819	synonymous_variant	168090							g.chr6:165715064C>T		CCDS5288.1	6q27	2012-02-06			ENSG00000112539	ENSG00000112539			21233	protein-coding gene	gene with protein product							Standard	NM_144980		Approved	MGC23884, bA85G2.1	uc003qum.4	Q5T5N4	OTTHUMG00000015984	ENST00000230301.8:c.747G>A	6.37:g.165715064C>T						C6orf118_ENST00000230301.8_Silent_p.L249L	p.L145L			Q5T5N4	CF118_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;3.23e-18)|BRCA - Breast invasive adenocarcinoma(81;3.11e-06)|GBM - Glioblastoma multiforme(31;0.000313)	2	1016	-		Breast(66;6.27e-05)|Ovarian(120;0.0228)|Prostate(117;0.0906)|all_neural(5;0.157)	249					Q8TC11	Silent	SNP	ENST00000230301.8	37	c.435G>A	CCDS5288.1																																																																																				0.607	C6orf118-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043026.1	NM_144980		7	83	0	0	0	1	0	7	83					T	165715064	C	T	165715064	2	4	94	1	0	0	0	0	0	0	0	1	2323	697	25	3		3	C6orf118	6	165715064	Silent	SNP	C	TCGA-EJ-7782-01A-11D-2114-08	5505887	165715064	5400003	178	4997											
LFNG	3955	broad.mit.edu	37	chr7	2565181	2565181	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggcccatccaggccatggagCgggtcagcgagaacaaggtg	10	4	16	11	2	1	1	1	0	0	1	2	3	2	2	3	5	3	0	3	5	2	0	rs143479850	byFrequency	TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr7:2565181C>T	ENST00000222725.5	+	4	735	c.715C>T	c.(715-717)Cgg>Tgg	p.R239W	LFNG_ENST00000359574.3_Missense_Mutation_p.R239W|LFNG_ENST00000402506.1_Missense_Mutation_p.R168W|MIR4648_ENST00000580107.1_RNA|LFNG_ENST00000402045.1_Missense_Mutation_p.R110W|LFNG_ENST00000338732.3_Missense_Mutation_p.R110W	NM_001040167.1	NP_001035257.1	Q8NES3	LFNG_HUMAN	LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase	239					compartment pattern specification (GO:0007386)|female meiotic division (GO:0007143)|metabolic process (GO:0008152)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|ovarian follicle development (GO:0001541)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of protein binding (GO:0032092)|regulation of Notch signaling pathway (GO:0008593)|regulation of somitogenesis (GO:0014807)|somitogenesis (GO:0001756)	extracellular region (GO:0005576)|integral component of Golgi membrane (GO:0030173)|vesicle (GO:0031982)	metal ion binding (GO:0046872)|O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase activity (GO:0033829)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|ovary(1)|urinary_tract(2)	6		Ovarian(82;0.0112)		OV - Ovarian serous cystadenocarcinoma(56;2.54e-14)		GGCCATGGAGCGGGTCAGCGA	0.716																																						ENST00000222725.5																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|ovary(1)|urinary_tract(2)	6						c.(715-717)Cgg>Tgg		LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase		C	TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG	0,4402		0,0,2201	32	32	32		715,715,502,328	1.5	0	7	dbSNP_134	32	2,8594	2.2+/-6.3	0,2,4296	yes	missense,missense,missense,missense	LFNG	NM_001040167.1,NM_001040168.1,NM_001166355.1,NM_002304.2	101,101,101,101	0,2,6497	TT,TC,CC		0.0233,0.0,0.0154	probably-damaging,probably-damaging,probably-damaging,probably-damaging	239/380,239/362,168/309,110/251	2565181	2,12996	2201	4298	6499	SO:0001583	missense	3955				organ morphogenesis	extracellular region|integral to Golgi membrane	O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase activity	g.chr7:2565181C>T	BC014851	CCDS34586.1, CCDS34587.1, CCDS55081.1, CCDS55082.1	7p22.3	2013-02-19	2006-11-13		ENSG00000106003	ENSG00000106003	2.4.1.222	"Beta 3-glycosyltransferases"	6560	protein-coding gene	gene with protein product		602576	"lunatic fringe (Drosophila) homolog", "lunatic fringe homolog (Drosophila)"			9878264, 9187150	Standard	NM_001166355		Approved	SCDO3	uc003smf.3	Q8NES3	OTTHUMG00000152043	ENST00000222725.5:c.715C>T	7.37:g.2565181C>T	ENSP00000222725:p.Arg239Trp					LFNG_ENST00000402506.1_Missense_Mutation_p.R168W|LFNG_ENST00000402045.1_Missense_Mutation_p.R110W|LFNG_ENST00000338732.3_Missense_Mutation_p.R110W|LFNG_ENST00000359574.3_Missense_Mutation_p.R239W	p.R239W	NM_001040167.1	NP_001035257.1	Q8NES3	LFNG_HUMAN		OV - Ovarian serous cystadenocarcinoma(56;2.54e-14)	4	735	+		Ovarian(82;0.0112)	239					B3KTY6|B5MCR5|O00589|Q96C39|Q9UJW5	Missense_Mutation	SNP	ENST00000222725.5	37	c.715C>T	CCDS34587.1	.	.	.	.	.	.	.	.	.	.	C	15.58	2.876409	0.51801	0.0	2.33E-4	ENSG00000106003	ENST00000402506;ENST00000402045;ENST00000338732;ENST00000222725;ENST00000359574	T;T;T;T;T	0.65549	-0.16;-0.16;-0.16;-0.16;-0.16	4.95	1.53	0.23141	.	0.047636	0.85682	D	0.000000	T	0.78104	0.4231	M	0.88640	2.97	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.99	T	0.77062	-0.2727	10	0.87932	D	0	-3.1195	7.4773	0.27385	0.6314:0.2687:0.0:0.0999	.	239;239	Q8NES3-3;Q8NES3	.;LFNG_HUMAN	W	168;110;110;239;239	ENSP00000385764:R168W;ENSP00000384786:R110W;ENSP00000343095:R110W;ENSP00000222725:R239W;ENSP00000352579:R239W	ENSP00000222725:R239W	R	+	1	2	LFNG	2531707	1.000000	0.71417	0.021000	0.16686	0.573000	0.36030	2.771000	0.47670	0.408000	0.25621	0.561000	0.74099	CGG		0.716	LFNG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325021.1	NM_002304		4	10	0	0	0	1	0	4	10					T	2565181	C	T	2565181	3	4	94	1	0	0	0	0	1	0	0	0	8737	759	27	1	1005	1	LFNG	7	2565181	Missense_Mutation	SNP	C	TCGA-EJ-7782-01A-11D-2114-08		2565181	156573482	179	4998											
MIOS	54468	broad.mit.edu	37	chr7	7645694	7645694	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	catgctggacatatgcttagTtggttcaggtaatcagcaca	11	12	10	8	0	2	0	2	0	0	0	2	1	2	1	0	3	3	6	0	3	3	5			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr7:7645694T>C	ENST00000340080.4	+	12	2944	c.2523T>C	c.(2521-2523)agT>agC	p.S841S	MIOS_ENST00000405785.1_Silent_p.S841S	NM_019005.3	NP_061878.3	Q9NXC5	MIO_HUMAN	missing oocyte, meiosis regulator, homolog (Drosophila)	841						lysosomal membrane (GO:0005765)				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(15)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						ATATGCTTAGTTGGTTCAGGT	0.388																																						ENST00000340080.4																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(15)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(2521-2523)agT>agC		missing oocyte, meiosis regulator, homolog (Drosophila)							278	253	261					7																	7645694		1964	4158	6122	SO:0001819	synonymous_variant	54468							g.chr7:7645694T>C		CCDS43554.1	7p21.3	2011-09-12			ENSG00000164654	ENSG00000164654			21905	protein-coding gene	gene with protein product	"WD repeat-containing protein mio"	615359				14973288	Standard	NM_019005		Approved	FLJ20323	uc003srf.3	Q9NXC5	OTTHUMG00000152440	ENST00000340080.4:c.2523T>C	7.37:g.7645694T>C						MIOS_ENST00000405785.1_Silent_p.S841S	p.S841S	NM_019005.3	NP_061878.3	Q9NXC5	MIO_HUMAN			12	2944	+			841					B2RTV6|O75216|Q7L551|Q9H092	Silent	SNP	ENST00000340080.4	37	c.2523T>C	CCDS43554.1																																																																																				0.388	MIOS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326218.1	NM_019005		47	89	0	0	0	1	0	47	89					C	7645694	T	C	7645694	2	2	94	1	0	0	0	0	0	0	0	1	9589	1722	60	4		4	MIOS	7	7645694	Silent	SNP	T	TCGA-EJ-7782-01A-11D-2114-08	5080513	7645694	151492969	180	4999											
PRPS1L1	221823	broad.mit.edu	37	chr7	18066568	18066568	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttggagcaatgcttcatctTctcatcttgaggtatggtat	8	17	9	7	0	4	1	2	1	3	0	5	2	4	2	0	3	2	4	0	3	3	6			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr7:18066568T>C	ENST00000506618.2	-	1	918	c.838A>G	c.(838-840)Aag>Gag	p.K280E		NM_175886.2	NP_787082	P21108	PRPS3_HUMAN	phosphoribosyl pyrophosphate synthetase 1-like 1	280					5-phosphoribose 1-diphosphate biosynthetic process (GO:0006015)|nucleotide biosynthetic process (GO:0009165)|ribonucleoside monophosphate biosynthetic process (GO:0009156)		ATP binding (GO:0005524)|kinase activity (GO:0016301)|magnesium ion binding (GO:0000287)|protein homodimerization activity (GO:0042803)|ribose phosphate diphosphokinase activity (GO:0004749)			endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(3)	18	Lung NSC(10;0.0385)|all_lung(11;0.0736)					TGCTTCATCTTCTCATCTTGA	0.428																																						ENST00000506618.2																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(3)	18						c.(838-840)Aag>Gag		phosphoribosyl pyrophosphate synthetase 1-like 1							191	190	191					7																	18066568		2201	4300	6501	SO:0001583	missense	221823				nucleoside metabolic process|ribonucleoside monophosphate biosynthetic process		ATP binding|kinase activity|magnesium ion binding|protein homodimerization activity|ribose phosphate diphosphokinase activity	g.chr7:18066568T>C	M57423	CCDS47552.1	7p21.1	2010-12-10			ENSG00000229937	ENSG00000229937			9463	protein-coding gene	gene with protein product		611566		PRPSL		2168892	Standard	NM_175886		Approved	PRPS3	uc003stz.3	P21108	OTTHUMG00000152742	ENST00000506618.2:c.838A>G	7.37:g.18066568T>C	ENSP00000424595:p.Lys280Glu						p.K280E	NM_175886.2	NP_787082.1	P21108	PRPS3_HUMAN			1	918	-	Lung NSC(10;0.0385)|all_lung(11;0.0736)		280					Q6P5P6	Missense_Mutation	SNP	ENST00000506618.2	37	c.838A>G	CCDS47552.1	.	.	.	.	.	.	.	.	.	.	T	12.51	1.960494	0.34565	.	.	ENSG00000229937	ENST00000506618	D	0.91011	-2.77	4.44	3.28	0.37604	.	.	.	.	.	T	0.80534	0.4641	N	0.20845	0.615	.	.	.	B	0.20671	0.047	B	0.21917	0.037	T	0.73007	-0.4118	8	0.10636	T	0.68	.	8.2583	0.31769	0.0:0.0964:0.0:0.9036	.	280	P21108	PRPS3_HUMAN	E	280	ENSP00000424595:K280E	ENSP00000424595:K280E	K	-	1	0	PRPS1L1	18033093	1.000000	0.71417	0.980000	0.43619	0.798000	0.45092	5.558000	0.67319	0.857000	0.35407	0.528000	0.53228	AAG		0.428	PRPS1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327667.1	NM_175886		46	79	0	0	0	1	0	46	79					C	18066568	T	C	18066568	3	2	94	1	0	0	0	0	1	0	0	0	12579	1792	62	4	122	4	PRPS1L1	7	18066568	Missense_Mutation	SNP	T	TCGA-EJ-7782-01A-11D-2114-08	10420874	18066568	141072095	181	5000											
STK31	56164	broad.mit.edu	37	chr7	23826531	23826531	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gctgttcaagccaacatgccTttaaattcagaagtaagtaa	15	11	7	8	0	2	1	2	0	0	1	2	1	2	1	2	0	3	4	2	0	7	6			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr7:23826531T>A	ENST00000355870.3	+	20	2594	c.2475T>A	c.(2473-2475)ccT>ccA	p.P825P	STK31_ENST00000428484.1_Silent_p.P802P|STK31_ENST00000405627.3_3'UTR|STK31_ENST00000354639.3_Silent_p.P802P|STK31_ENST00000433467.2_Silent_p.P825P	NM_031414.4	NP_113602.2	Q9BXU1	STK31_HUMAN	serine/threonine kinase 31	825	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.					acrosomal vesicle (GO:0001669)	ATP binding (GO:0005524)|hydrolase activity, acting on ester bonds (GO:0016788)|nucleic acid binding (GO:0003676)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						CCAACATGCCTTTAAATTCAG	0.363																																						ENST00000354639.3																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						c.(2404-2406)ccT>ccA		serine/threonine kinase 31							164	151	155					7																	23826531		2203	4300	6503	SO:0001819	synonymous_variant	56164						ATP binding|nucleic acid binding|protein serine/threonine kinase activity	g.chr7:23826531T>A	AF285599	CCDS5386.1, CCDS43556.1, CCDS59049.1	7p15.3	2014-04-23			ENSG00000196335	ENSG00000196335		"Tudor domain containing"	11407	protein-coding gene	gene with protein product		605790				11279525	Standard	NM_031414		Approved	TDRD8, SgK396	uc003sws.5	Q9BXU1	OTTHUMG00000023053	ENST00000355870.3:c.2475T>A	7.37:g.23826531T>A						STK31_ENST00000355870.3_Silent_p.P825P|STK31_ENST00000428484.1_Silent_p.P802P|STK31_ENST00000433467.2_Silent_p.P825P|STK31_ENST00000405627.3_3'UTR	p.P802P	NM_001260504.1|NM_032944.3	NP_001247433.1|NP_116562.2	Q9BXU1	STK31_HUMAN			20	2870	+			825			Protein kinase.		B4DZ06|B7WPP5|C9J4F9|Q6PCD3|Q9BXH8	Silent	SNP	ENST00000355870.3	37	c.2406T>A	CCDS5386.1																																																																																				0.363	STK31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214036.2	NM_031414		7	89	0	0	0	1	0	7	89					A	23826531	T	A	23826531	2	1	94	1	0	0	0	0	0	0	0	1	15295	1596	56	5		5	STK31	7	23826531	Silent	SNP	T	TCGA-EJ-7782-01A-11D-2114-08	5759963	23826531	135312132	182	5001											
NT5C3	51251	broad.mit.edu	37	chr7	33061665	33061666	+	Splice_Site	INS	-	-	T																															gattgttgttagtgtttaccINSttttttctacattcatctgt																										TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr7:33061665_33061666insT	ENST00000242210.7	-	4	444_445	c.368_369insA	c.(367-369)aag>aaAg	p.K123fs	NT5C3A_ENST00000396152.2_Splice_Site_p.K84fs|NT5C3A_ENST00000610140.1_Splice_Site_p.K118fs|NT5C3A_ENST00000409787.1_Splice_Site_p.K84fs|NT5C3A_ENST00000405342.1_Splice_Site_p.K84fs|NT5C3A_ENST00000381626.2_Splice_Site_p.K72fs|AVL9_ENST00000404479.1_Intron|NT5C3A_ENST00000409467.1_Splice_Site_p.K72fs	NM_001002009.2|NM_001002010.2	NP_001002009.1|NP_001002010.1	Q9H0P0	5NT3A_HUMAN	5'-nucleotidase, cytosolic IIIA	123					dephosphorylation (GO:0016311)|nucleobase-containing small molecule metabolic process (GO:0055086)|nucleotide metabolic process (GO:0009117)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|pyrimidine nucleoside metabolic process (GO:0006213)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)	2'-phosphotransferase activity (GO:0008665)|5'-nucleotidase activity (GO:0008253)|magnesium ion binding (GO:0000287)|nucleotide binding (GO:0000166)	p.K123K(1)|p.K84K(1)									TAGTGTTTACCTTTTTTCTACA	0.322																																						ENST00000396152.2																			2	Substitution - coding silent(2)	p.K123K(1)|p.K84K(1)	endometrium(2)			GRCh37	CI032516	NT5C3	I		c.e5+1		5'-nucleotidase, cytosolic IIIA																																				SO:0001630	splice_region_variant	51251							g.chr7:33061665_33061666insT	AF312735	CCDS34616.1, CCDS34617.1, CCDS55101.1	7p14.3	2013-03-06	2013-03-06	2013-03-06	ENSG00000122643	ENSG00000122643	3.1.3.5		17820	protein-coding gene	gene with protein product	"lupin"	606224	"5'-nucleotidase, cytosolic III"	NT5C3		11042152, 10942414	Standard	NM_001002010		Approved	UMPH1, PSN1, PN-I, UMPH, P5'N-1, cN-III, p36, POMP, hUMP1	uc003tdk.4	Q9H0P0	OTTHUMG00000152983	ENST00000242210.7:c.369+1->A	7.37:g.33061671_33061671dupT						NT5C3A_ENST00000405342.1_Splice_Site_p.I84_splice|NT5C3A_ENST00000409467.1_Splice_Site_p.I72_splice|NT5C3A_ENST00000242210.7_Splice_Site_p.I123_splice|NT5C3A_ENST00000381626.2_Splice_Site_p.I72_splice|NT5C3A_ENST00000409787.1_Splice_Site_p.I84_splice|AVL9_ENST00000404479.1_Intron	p.I84_splice	NM_016489.12	NP_057573.2					5	553_554	-								A8K253|B2RAA5|B8ZZC4|Q6IPZ1|Q6NXS6|Q7L3G6|Q9P0P5|Q9UC42|Q9UC43|Q9UC44|Q9UC45	Splice_Site	INS	ENST00000242210.7	37	c.252_splice	CCDS34616.1																																																																																				0.322	NT5C3A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000328880.1	NM_016489	Frame_Shift_Ins	4	7						4	7	---	---	---	---	T	33061666	-	T	33061665	8	5	94	1	0	1	1	0	0	0	1	0	10688	695	24	0	665	0	NT5C3	7	33061665	Splice_Site	INS	-	TCGA-EJ-7782-01A-11D-2114-08	9235134	33061665	126076998	183	5002											
CDK13	8621	broad.mit.edu	37	chr7	40102431	40102431	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tctgtgttttttagtcggccGtatactaacaaggtaattac	10	16	8	7	2	1	0	0	0	1	0	2	0	1	0	1	2	3	3	1	2	7	8	rs145734382		TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr7:40102431G>A	ENST00000181839.4	+	8	3212	c.2607G>A	c.(2605-2607)ccG>ccA	p.P869P	CDK13_ENST00000484589.1_3'UTR|CDK13_ENST00000340829.5_Silent_p.P869P	NM_003718.4|NM_031267.3	NP_003709.3|NP_112557.2	Q14004	CDK13_HUMAN	cyclin-dependent kinase 13	869	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				alternative mRNA splicing, via spliceosome (GO:0000380)|hemopoiesis (GO:0030097)|multicellular organismal development (GO:0007275)|phosphorylation of RNA polymerase II C-terminal domain (GO:0070816)|positive regulation of cell proliferation (GO:0008284)|regulation of mitosis (GO:0007088)|viral process (GO:0016032)	cyclin K-CDK13 complex (GO:0002945)|extracellular space (GO:0005615)|nuclear cyclin-dependent protein kinase holoenzyme complex (GO:0019908)|nuclear speck (GO:0016607)	ATP binding (GO:0005524)|cyclin binding (GO:0030332)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(2)|prostate(2)|skin(5)|stomach(2)|urinary_tract(1)	49						TTAGTCGGCCGTATACTAACA	0.388													G|||	1	0.000199681	0	0	5008	,	,		16958	0		0.001	False		,,,				2504	0					ENST00000181839.4																			0				cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(2)|prostate(2)|skin(5)|stomach(2)|urinary_tract(1)	49						c.(2605-2607)ccG>ccA		cyclin-dependent kinase 13		G	,	1,4405		0,1,2202	289	307	301		2607,2607	-0.6	1	7	dbSNP_134	301	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	CDK13	NM_003718.4,NM_031267.3	,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,	869/1513,869/1453	40102431	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	8621				alternative nuclear mRNA splicing, via spliceosome|hemopoiesis|interspecies interaction between organisms|phosphorylation of RNA polymerase II C-terminal domain|positive regulation of cell proliferation|regulation of mitosis	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity	g.chr7:40102431G>A	M80629	CCDS5461.1, CCDS5462.1	7p14.1	2011-11-08	2009-12-16	2009-12-16	ENSG00000065883	ENSG00000065883		"Cyclin-dependent kinases"	1733	protein-coding gene	gene with protein product	"cholinesterase-related cell division controller"	603309	"cell division cycle 2-like 5 (cholinesterase-related cell division controller)"	CDC2L5		1731328, 19884882	Standard	NM_003718		Approved	CHED, CDC2L, KIAA1791	uc003thh.4	Q14004	OTTHUMG00000023726	ENST00000181839.4:c.2607G>A	7.37:g.40102431G>A						CDK13_ENST00000340829.5_Silent_p.P869P|CDK13_ENST00000484589.1_3'UTR	p.P869P	NM_003718.4|NM_031267.3	NP_003709.3|NP_112557.2	Q14004	CDK13_HUMAN			8	3212	+			869			Protein kinase.		Q53G78|Q6DKQ9|Q75MH4|Q75MH5|Q96JN4|Q9H4A0|Q9H4A1|Q9UDR4	Silent	SNP	ENST00000181839.4	37	c.2607G>A	CCDS5461.1																																																																																				0.388	CDK13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250726.2	NM_003718		24	207	0	0	0	1	0	24	207					A	40102431	G	A	40102431	2	1	94	1	0	0	0	0	0	0	0	1	3129	1132	40	1		1	CDK13	7	40102431	Silent	SNP	G	TCGA-EJ-7782-01A-11D-2114-08	7040766	40102431	119036232	184	5003											
C7orf57	136288	broad.mit.edu	37	chr7	48081003	48081003	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	accagcgtcccagatcccagGtctcagcaatttgggagact	10	8	10	13	1	1	2	1	0	1	2	4	3	3	2	3	2	2	1	3	2	1	1			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr7:48081003G>T	ENST00000348904.3	+	3	340	c.128G>T	c.(127-129)gGt>gTt	p.G43V	C7orf57_ENST00000430738.1_Missense_Mutation_p.G88V|C7orf57_ENST00000420324.1_Missense_Mutation_p.G88V|C7orf57_ENST00000435376.1_5'UTR|C7orf57_ENST00000539619.1_Missense_Mutation_p.G43V	NM_001100159.2	NP_001093629.1	Q8NEG2	CG057_HUMAN	chromosome 7 open reading frame 57	43										breast(1)|endometrium(2)|large_intestine(1)|lung(4)|ovary(1)	9						CAGATCCCAGGTCTCAGCAAT	0.537																																						ENST00000348904.3																			0				breast(1)|endometrium(2)|large_intestine(1)|lung(4)|ovary(1)	9						c.(127-129)gGt>gTt		chromosome 7 open reading frame 57							52	56	55					7																	48081003		1920	4144	6064	SO:0001583	missense	136288							g.chr7:48081003G>T	BC031107	CCDS47583.1, CCDS59054.1, CCDS75594.1	7p12.3	2011-11-25			ENSG00000164746	ENSG00000164746			22247	protein-coding gene	gene with protein product							Standard	NM_001100159		Approved		uc003toh.5	Q8NEG2	OTTHUMG00000155808	ENST00000348904.3:c.128G>T	7.37:g.48081003G>T	ENSP00000335500:p.Gly43Val					C7orf57_ENST00000420324.1_Missense_Mutation_p.G88V|C7orf57_ENST00000539619.1_Missense_Mutation_p.G43V|C7orf57_ENST00000430738.1_Missense_Mutation_p.G88V|C7orf57_ENST00000435376.1_5'UTR	p.G43V	NM_001100159.2	NP_001093629.1	Q8NEG2	CG057_HUMAN			3	340	+			43					C9JBJ8	Missense_Mutation	SNP	ENST00000348904.3	37	c.128G>T	CCDS47583.1	.	.	.	.	.	.	.	.	.	.	G	17.75	3.465547	0.63513	.	.	ENSG00000164746	ENST00000420324;ENST00000430738;ENST00000348904;ENST00000539619	T;T;T;T	0.42131	0.98;0.98;0.98;0.98	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	T	0.68613	0.3020	M	0.83483	2.645	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.72114	-0.4388	10	0.66056	D	0.02	-18.7036	17.2972	0.87173	0.0:0.0:1.0:0.0	.	43	Q8NEG2	CG057_HUMAN	V	88;88;43;43	ENSP00000394648:G88V;ENSP00000410944:G88V;ENSP00000335500:G43V;ENSP00000442474:G43V	ENSP00000335500:G43V	G	+	2	0	C7orf57	48047528	1.000000	0.71417	0.954000	0.39281	0.312000	0.27988	6.127000	0.71642	2.670000	0.90874	0.563000	0.77884	GGT		0.537	C7orf57-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341745.1	NM_001100159		10	27	1	0	1.33987e-11	1	1.42901e-11	10	27					T	48081003	G	T	48081003	3	4	94	1	0	0	0	0	1	0	0	0	2404	1261	44	5	134	5	C7orf57	7	48081003	Missense_Mutation	SNP	G	TCGA-EJ-7782-01A-11D-2114-08	7978572	48081003	111057660	185	5004											
TPST1	8460	broad.mit.edu	37	chr7	65705780	65705780	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcaagtaaagagaagatccGcctggatgaggctggtgtta	12	9	14	6	1	1	3	1	1	0	2	2	5	2	4	2	3	0	3	2	3	5	2	rs542123303		TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr7:65705780G>A	ENST00000304842.5	+	2	793	c.368G>A	c.(367-369)cGc>cAc	p.R123H	TPST1_ENST00000480281.1_Intron	NM_003596.3	NP_003587.1	O60507	TPST1_HUMAN	tyrosylprotein sulfotransferase 1	123					inflammatory response (GO:0006954)|peptidyl-tyrosine sulfation (GO:0006478)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	protein-tyrosine sulfotransferase activity (GO:0008476)			NS(1)|biliary_tract(1)|breast(1)|kidney(3)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	11						GAGAAGATCCGCCTGGATGAG	0.507													G|||	1	0.000199681	8e-04	0	5008	,	,		20253	0		0	False		,,,				2504	0					ENST00000304842.5																			0				NS(1)|biliary_tract(1)|breast(1)|kidney(3)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	11						c.(367-369)cGc>cAc		tyrosylprotein sulfotransferase 1							113	109	110					7																	65705780		2203	4300	6503	SO:0001583	missense	8460				inflammatory response|peptidyl-tyrosine sulfation	Golgi membrane|integral to membrane|membrane fraction	protein-tyrosine sulfotransferase activity	g.chr7:65705780G>A	AF038009	CCDS5533.1	7q11.21	2012-12-13			ENSG00000169902	ENSG00000169902	2.8.2.20	"Sulfotransferases, membrane-bound"	12020	protein-coding gene	gene with protein product	"transport and golgi organization 13 homolog A (Drosophila)"	603125				9501187	Standard	NM_003596		Approved	TANGO13A	uc003tuw.3	O60507	OTTHUMG00000023871	ENST00000304842.5:c.368G>A	7.37:g.65705780G>A	ENSP00000302413:p.Arg123His					TPST1_ENST00000480281.1_Intron	p.R123H	NM_003596.3	NP_003587.1	O60507	TPST1_HUMAN			2	793	+			123					A4D2M0|Q6FGM7	Missense_Mutation	SNP	ENST00000304842.5	37	c.368G>A	CCDS5533.1	.	.	.	.	.	.	.	.	.	.	G	28.1	4.888521	0.91814	.	.	ENSG00000169902	ENST00000304842;ENST00000544114;ENST00000451388	.	.	.	5.78	5.78	0.91487	Sulfotransferase domain (1);	0.000000	0.85682	D	0.000000	D	0.85856	0.5794	M	0.90977	3.165	0.80722	D	1	D;D	0.89917	0.998;1.0	P;D	0.76071	0.828;0.987	D	0.86560	0.1840	9	0.44086	T	0.13	-12.2145	19.0054	0.92848	0.0:0.0:1.0:0.0	.	123;123	F5H7U7;O60507	.;TPST1_HUMAN	H	123	.	ENSP00000302413:R123H	R	+	2	0	TPST1	65343215	1.000000	0.71417	0.996000	0.52242	0.989000	0.77384	8.786000	0.91826	2.723000	0.93209	0.585000	0.79938	CGC		0.507	TPST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251705.2	NM_003596		4	56	0	0	0	1	0	4	56					A	65705780	G	A	65705780	3	1	94	1	0	0	0	0	1	0	0	0	16424	1087	38	1	370	1	TPST1	7	65705780	Missense_Mutation	SNP	G	TCGA-EJ-7782-01A-11D-2114-08	17624777	65705780	93432883	186	5005											
TYW1B	441250	broad.mit.edu	37	chr7	72040605	72040605	+	RNA	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tctggccatataatcctttgCgctgaacgtttttgatccac	8	15	7	11	2	1	2	0	2	1	0	3	2	3	2	3	1	2	2	3	1	3	5			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr7:72040605C>T	ENST00000435769.2	-	0	2008				TYW1B_ENST00000438125.1_RNA|TYW1B_ENST00000343721.5_RNA			Q6NUM6	TYW1B_HUMAN	tRNA-yW synthesizing protein 1 homolog B (S. cerevisiae)						tRNA processing (GO:0008033)		4 iron, 4 sulfur cluster binding (GO:0051539)|FMN binding (GO:0010181)|iron ion binding (GO:0005506)|lyase activity (GO:0016829)|oxidoreductase activity (GO:0016491)										TAATCCTTTGCGCTGAACGTT	0.428																																						ENST00000438125.1																			0													tRNA-yW synthesizing protein 1 homolog B (S. cerevisiae)							105	94	97					7																	72040605		692	1591	2283			441250				tRNA processing		4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity	g.chr7:72040605C>T	BC068520	CCDS69309.1	7q11.23	2011-08-11	2009-07-28		ENSG00000254184	ENSG00000277149			33908	protein-coding gene	gene with protein product	"radical S-adenosyl methionine and flavodoxin domains 1", "non-protein coding RNA 69", "long intergenic non-protein coding RNA 69"		"tRNA-yW synthesizing protein 1 homolog B (non-protein coding)"				Standard	NM_001145440		Approved	RSAFD2, MGC87315, NCRNA00069, LINC00069	uc011kej.2	Q6NUM6	OTTHUMG00000157067		7.37:g.72040605C>T										Q6NUM6	TYW1B_HUMAN			0	1399	-								A6NG09|B4DFY2|Q3KQX2	RNA	SNP	ENST00000435769.2	37																																																																																						0.428	TYW1B-001	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000347346.2	NM_001145440		15	28	0	0	0	1	0	15	28					T	72040605	C	T	72040605	1	4	94	0	1	0	0	0	0	0	0	0	16816	768	27	1		1	TYW1B	7	72040605	RNA	SNP	C	TCGA-EJ-7782-01A-11D-2114-08	6334825	72040605	87098058	187	5006											
FZD9	8326	broad.mit.edu	37	chr7	72849235	72849235	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgtgaccaggaggcgggcGcgctctacgtgatccaggag	7	6	16	12	4	1	2	0	2	1	0	2	4	2	4	3	4	1	1	3	4	1	1			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr7:72849235G>A	ENST00000344575.3	+	1	1127	c.898G>A	c.(898-900)Gcg>Acg	p.A300T		NM_003508.2	NP_003499.1	O00144	FZD9_HUMAN	frizzled class receptor 9	300					B cell differentiation (GO:0030183)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|gonad development (GO:0008406)|learning or memory (GO:0007611)|nervous system development (GO:0007399)|neuroblast proliferation (GO:0007405)|vasculature development (GO:0001944)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(4)|prostate(2)|skin(1)	14		Lung NSC(55;0.0659)|all_lung(88;0.152)				GGAGGCGGGCGCGCTCTACGT	0.632																																					Pancreas(144;909 1878 36867 38226 39554)	ENST00000344575.3																			0				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(4)|prostate(2)|skin(1)	14						c.(898-900)Gcg>Acg		frizzled family receptor 9							102	93	96					7																	72849235		2202	4300	6502	SO:0001583	missense	8326				B cell differentiation|brain development|canonical Wnt receptor signaling pathway|embryo development|gonad development|neuroblast proliferation|vasculature development	cell surface|filopodium membrane|integral to membrane|perinuclear region of cytoplasm	G-protein coupled receptor activity|PDZ domain binding|protein heterodimerization activity|protein homodimerization activity|Wnt receptor activity|Wnt-protein binding	g.chr7:72849235G>A	U82169	CCDS5548.1	7q11.23	2014-01-29	2014-01-29		ENSG00000188763	ENSG00000188763		"GPCR / Class F : Frizzled receptors", "CD molecules"	4047	protein-coding gene	gene with protein product		601766	"frizzled (Drosophila) homolog 9", "frizzled homolog 9 (Drosophila)", "frizzled 9, seven transmembrane spanning receptor", "frizzled family receptor 9"			9147651, 10198163	Standard	NM_003508		Approved	FZD3, CD349	uc003tyb.3	O00144	OTTHUMG00000023051	ENST00000344575.3:c.898G>A	7.37:g.72849235G>A	ENSP00000345785:p.Ala300Thr						p.A300T	NM_003508.2	NP_003499.1	O00144	FZD9_HUMAN			1	1127	+		Lung NSC(55;0.0659)|all_lung(88;0.152)	300						Missense_Mutation	SNP	ENST00000344575.3	37	c.898G>A	CCDS5548.1	.	.	.	.	.	.	.	.	.	.	G	13.56	2.274937	0.40194	.	.	ENSG00000188763	ENST00000344575	T	0.44881	0.91	4.1	4.1	0.47936	GPCR, family 2-like (1);	0.215143	0.37348	U	0.002121	T	0.35098	0.0920	N	0.25647	0.755	0.38962	D	0.958568	P	0.45957	0.869	P	0.45406	0.479	T	0.15954	-1.0419	10	0.23302	T	0.38	.	15.6706	0.77270	0.0:0.0:1.0:0.0	.	300	O00144	FZD9_HUMAN	T	300	ENSP00000345785:A300T	ENSP00000345785:A300T	A	+	1	0	FZD9	72487171	1.000000	0.71417	0.208000	0.23602	0.921000	0.55340	3.465000	0.53064	2.004000	0.58718	0.411000	0.27672	GCG		0.632	FZD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252120.1			27	43	0	0	0	1	0	27	43					A	72849235	G	A	72849235	3	1	94	1	0	0	0	0	1	0	0	0	6137	1087	38	1	900	1	FZD9	7	72849235	Missense_Mutation	SNP	G	TCGA-EJ-7782-01A-11D-2114-08	808630	72849235	86289428	188	5007											
STAG3L2	442582	broad.mit.edu	37	chr7	74301240	74301240	+	RNA	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttcctcaatgcagatagcaCggatctcaggaaggacatcc	12	9	9	11	1	2	1	2	0	1	1	5	4	4	4	2	3	2	2	2	3	3	2			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr7:74301240C>T	ENST00000423186.1	-	0	499							P0CL84	ST3L2_HUMAN	stromal antigen 3-like 2 (pseudogene)							nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|large_intestine(1)|lung(1)|pancreas(1)	5						GCAGATAGCACGGATCTCAGG	0.458																																						ENST00000423186.1																			0				breast(1)|central_nervous_system(1)|large_intestine(1)|lung(1)|pancreas(1)	5															92	81	85					7																	74301240		2199	4257	6456			0					nucleus	binding	g.chr7:74301240C>T			7q11.23	2013-06-26	2013-06-26			ENSG00000277072			33886	pseudogene	pseudogene			"stromal antigen 3-like 2"				Standard	NR_040584		Approved	MGC131759, STAG3L2P	uc011kfj.2	P0CL84	OTTHUMG00000156216		7.37:g.74301240C>T										P0CL84	ST3L2_HUMAN			0	499	-								A6NMT8|A8K0A1|Q32NE4|Q6NXR2|Q7L5M5|Q7Z5K6	RNA	SNP	ENST00000423186.1	37			.	.	.	.	.	.	.	.	.	.	C	9.047	0.991199	0.18966	.	.	ENSG00000160828	ENST00000457631;ENST00000448772;ENST00000429726	.	.	.	.	.	.	Stromalin conservative domain (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.310256	0.23626	N	0.046198	T	0.60353	0.2262	.	.	.	0.39116	D	0.961573	D	0.65815	0.995	P	0.62813	0.907	T	0.64437	-0.6408	5	.	.	.	.	5.8178	0.18506	0.0:0.999:0.0:0.001	.	22	P0CL84	ST3L2_HUMAN	H	22	.	.	R	-	2	0	STAG3L2	73939176	1.000000	0.71417	0.000000	0.03702	0.000000	0.00434	4.886000	0.63149	-0.000000	0.14550	0.000000	0.15137	CGT		0.458	STAG3L2-002	KNOWN	basic	retained_intron	pseudogene	OTTHUMT00000343523.2	NM_001025202		55	131	0	0	0	1	0	55	131					T	74301240	C	T	74301240	1	4	94	0	1	0	0	0	0	0	0	0	15244	536	19	1		1	STAG3L2	7	74301240	RNA	SNP	C	TCGA-EJ-7782-01A-11D-2114-08	1452005	74301240	84837423	189	5008											
DMTF1	9988	broad.mit.edu	37	chr7	86817443	86817444	+	Frame_Shift_Ins	INS	-	-	A																															taaacagttacatgagaaccINSaaaaaaacaacccaacgctt																										TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr7:86817443_86817444insA	ENST00000394703.5	+	15	1800_1801	c.1237_1238insA	c.(1237-1239)caafs	p.Q413fs	DMTF1_ENST00000331242.7_Frame_Shift_Ins_p.Q413fs|DMTF1_ENST00000413276.2_Intron|DMTF1_ENST00000432937.2_Frame_Shift_Ins_p.Q325fs|DMTF1_ENST00000414194.2_Frame_Shift_Ins_p.Q147fs	NM_021145.3	NP_066968.3	Q9Y222	DMTF1_HUMAN	cyclin D binding myb-like transcription factor 1	413	Interaction with CCND1, CCND2 and CCND3. {ECO:0000250}.|Required for DNA-binding. {ECO:0000250}.				cell cycle (GO:0007049)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)	16	Esophageal squamous(14;0.0058)					ACATGAGAACCAAAAAAACAAC	0.411																																						ENST00000414194.2																			0				central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)	16						c.(439-441)aaafs		cyclin D binding myb-like transcription factor 1																																				SO:0001589	frameshift_variant	9988				cell cycle	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:86817443_86817444insA	AF084530	CCDS5601.1, CCDS47633.1	7q21	2014-06-25			ENSG00000135164	ENSG00000135164			14603	protein-coding gene	gene with protein product	"cyclin D-binding Myb-like protein"	608491				10095122, 24958102	Standard	NR_024549		Approved	DMP1, DMTF, hDMP1, MRUL	uc003uih.3	Q9Y222	OTTHUMG00000154135	ENST00000394703.5:c.1244dupA	7.37:g.86817450_86817450dupA	ENSP00000378193:p.Gln413fs					DMTF1_ENST00000331242.7_Frame_Shift_Ins_p.K413fs|DMTF1_ENST00000394703.5_Frame_Shift_Ins_p.K413fs|DMTF1_ENST00000432937.2_Frame_Shift_Ins_p.K325fs|DMTF1_ENST00000413276.2_Intron	p.K147fs			Q9Y222	DMTF1_HUMAN			13	2231_2232	+	Esophageal squamous(14;0.0058)		413			Interaction with CCND2 (By similarity).|Required for DNA-binding (By similarity).|Required for transcriptional activation (By similarity).		B2RBE1|B4DJS5|Q05C48|Q59G79|Q6IS13|Q969T2|Q9H2Z2|Q9H2Z3	Frame_Shift_Ins	INS	ENST00000394703.5	37	c.439_440insA	CCDS5601.1																																																																																				0.411	DMTF1-002	KNOWN	alternative_5_UTR|non_canonical_TEC|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334025.5	NM_021145		17	57						17	57	---	---	---	---	A	86817444	-	A	86817443	7	5	94	1	0	1	1	0	0	0	0	0	4592	595	21	0	1279	0	DMTF1	7	86817443	Frame_Shift_Ins	INS	-	TCGA-EJ-7782-01A-11D-2114-08	12516203	86817443	72321220	190	5009											
AKAP9	10142	broad.mit.edu	37	chr7	91712544	91712544	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gccaagttagggatcacctcGcagaggcaaaagagaaattg	15	6	12	8	1	1	2	1	0	0	2	2	4	1	3	2	2	0	3	2	2	5	2	rs368001901		TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr7:91712544G>T	ENST00000359028.2	+	34	8482	c.8257G>T	c.(8257-8259)Gca>Tca	p.A2753S	AKAP9_ENST00000356239.3_Missense_Mutation_p.A2741S|AKAP9_ENST00000358100.2_Missense_Mutation_p.A2753S			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	2753	Glu-rich.				G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|Sertoli cell development (GO:0060009)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)|synaptic transmission (GO:0007268)|transport (GO:0006810)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|pericentriolar material (GO:0000242)|voltage-gated potassium channel complex (GO:0008076)	ion channel binding (GO:0044325)|protein complex scaffold (GO:0032947)|receptor binding (GO:0005102)			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			GGATCACCTCGCAGAGGCAAA	0.368			T	BRAF	papillary thyroid																																	ENST00000359028.2				Dom	yes		7	7q21-q22	10142	T	A kinase (PRKA) anchor protein (yotiao) 9			E	BRAF		papillary thyroid		0				NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155						c.(8257-8259)Gca>Tca		A kinase (PRKA) anchor protein 9							64	63	63					7																	91712544		2203	4300	6503	SO:0001583	missense	10142				G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding	g.chr7:91712544G>T	AF091711	CCDS5622.1	7q21-q22	2014-09-17	2013-09-25		ENSG00000127914	ENSG00000127914		"A-kinase anchor proteins", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	379	protein-coding gene	gene with protein product	"A-kinase anchoring protein 450", "AKAP9-BRAF fusion protein", "AKAP120-like protein", "centrosome- and golgi-localized protein kinase N-associated protein", "protein kinase A anchoring protein 9", "A-kinase anchor protein, 350kDa", "protein phosphatase 1, regulatory subunit 45", "yotiao"	604001				9482789, 10390370, 24475373	Standard	NM_147185		Approved	KIAA0803, AKAP350, AKAP450, CG-NAP, YOTIAO, HYPERION, PRKA9, MU-RMS-40.16A, PPP1R45, LQT11	uc003ulg.3	Q99996	OTTHUMG00000131127	ENST00000359028.2:c.8257G>T	7.37:g.91712544G>T	ENSP00000351922:p.Ala2753Ser					AKAP9_ENST00000356239.3_Missense_Mutation_p.A2741S|AKAP9_ENST00000358100.2_Missense_Mutation_p.A2753S	p.A2753S			Q99996	AKAP9_HUMAN	STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)		34	8482	+	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		2753			Glu-rich.		A4D1F0|A4D1F2|A4D1F4|O14869|O43355|O94895|Q75N20|Q9UQH3|Q9UQQ4|Q9Y6B8|Q9Y6Y2	Missense_Mutation	SNP	ENST00000359028.2	37	c.8257G>T		.	.	.	.	.	.	.	.	.	.	g	0.297	-0.976474	0.02215	.	.	ENSG00000127914	ENST00000356239;ENST00000359028;ENST00000358100;ENST00000413120;ENST00000394534	T;T;T;T	0.46063	0.88;0.88;0.88;0.88	4.8	-1.99	0.07457	.	0.651149	0.12866	N	0.432703	T	0.23532	0.0569	N	0.19112	0.55	0.09310	N	1	B;B;B;B;B	0.13145	0.007;0.005;0.003;0.005;0.005	B;B;B;B;B	0.11329	0.006;0.006;0.003;0.006;0.006	T	0.27400	-1.0075	10	0.15952	T	0.53	.	11.152	0.48464	0.5861:0.0:0.4139:0.0	.	2745;2745;2753;2741;2733	F5H3X5;Q99996-6;Q99996;Q99996-2;Q99996-3	.;.;AKAP9_HUMAN;.;.	S	2741;2753;2753;2745;587	ENSP00000348573:A2741S;ENSP00000351922:A2753S;ENSP00000350813:A2753S;ENSP00000378042:A587S	ENSP00000348573:A2741S	A	+	1	0	AKAP9	91550480	0.000000	0.05858	0.053000	0.19242	0.025000	0.11179	-0.395000	0.07287	-0.221000	0.09973	-2.667000	0.00145	GCA		0.368	AKAP9-202	KNOWN	basic	protein_coding	protein_coding		NM_005751		11	43	1	0	3.86212e-05	1	3.97048e-05	11	43					T	91712544	G	T	91712544	3	4	94	1	0	0	0	0	1	0	0	0	459	1087	38	5	8351	5	AKAP9	7	91712544	Missense_Mutation	SNP	G	TCGA-EJ-7782-01A-11D-2114-08	4895101	91712544	67426119	191	5010											
AKAP9	10142	broad.mit.edu	37	chr7	91726086	91726086	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caacagaaacaactactgaaCgaatcccagcaaaaaataga	22	4	5	10	1	0	3	0	1	0	2	1	4	1	3	1	0	6	1	1	0	10	2			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr7:91726086C>T	ENST00000359028.2	+	41	10050	c.9825C>T	c.(9823-9825)aaC>aaT	p.N3275N	AKAP9_ENST00000356239.3_Silent_p.N3271N|AKAP9_ENST00000358100.2_Silent_p.N3221N			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	3275					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|Sertoli cell development (GO:0060009)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)|synaptic transmission (GO:0007268)|transport (GO:0006810)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|pericentriolar material (GO:0000242)|voltage-gated potassium channel complex (GO:0008076)	ion channel binding (GO:0044325)|protein complex scaffold (GO:0032947)|receptor binding (GO:0005102)			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			AACTACTGAACGAATCCCAGC	0.383			T	BRAF	papillary thyroid																																	ENST00000359028.2				Dom	yes		7	7q21-q22	10142	T	A kinase (PRKA) anchor protein (yotiao) 9			E	BRAF		papillary thyroid		0				NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155						c.(9823-9825)aaC>aaT		A kinase (PRKA) anchor protein 9							64	67	66					7																	91726086		2203	4299	6502	SO:0001819	synonymous_variant	10142				G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding	g.chr7:91726086C>T	AF091711	CCDS5622.1	7q21-q22	2014-09-17	2013-09-25		ENSG00000127914	ENSG00000127914		"A-kinase anchor proteins", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	379	protein-coding gene	gene with protein product	"A-kinase anchoring protein 450", "AKAP9-BRAF fusion protein", "AKAP120-like protein", "centrosome- and golgi-localized protein kinase N-associated protein", "protein kinase A anchoring protein 9", "A-kinase anchor protein, 350kDa", "protein phosphatase 1, regulatory subunit 45", "yotiao"	604001				9482789, 10390370, 24475373	Standard	NM_147185		Approved	KIAA0803, AKAP350, AKAP450, CG-NAP, YOTIAO, HYPERION, PRKA9, MU-RMS-40.16A, PPP1R45, LQT11	uc003ulg.3	Q99996	OTTHUMG00000131127	ENST00000359028.2:c.9825C>T	7.37:g.91726086C>T						AKAP9_ENST00000356239.3_Silent_p.N3271N|AKAP9_ENST00000358100.2_Silent_p.N3221N	p.N3275N			Q99996	AKAP9_HUMAN	STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)		41	10050	+	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		3275					A4D1F0|A4D1F2|A4D1F4|O14869|O43355|O94895|Q75N20|Q9UQH3|Q9UQQ4|Q9Y6B8|Q9Y6Y2	Silent	SNP	ENST00000359028.2	37	c.9825C>T																																																																																					0.383	AKAP9-202	KNOWN	basic	protein_coding	protein_coding		NM_005751		6	69	0	0	0	1	0	6	69					T	91726086	C	T	91726086	2	4	94	1	0	0	0	0	0	0	0	1	459	535	19	1		1	AKAP9	7	91726086	Silent	SNP	C	TCGA-EJ-7782-01A-11D-2114-08	13542	91726086	67412577	192	5011											
TFR2	7036	broad.mit.edu	37	chr7	100218565	100218565	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggtgagcagggctagctgaCgccggaaacggctctcctgg	8	6	16	11	3	1	2	0	2	1	0	2	3	1	3	2	5	3	4	2	5	2	1			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr7:100218565C>T	ENST00000462107.1	-	19	2608	c.2321G>A	c.(2320-2322)cGt>cAt	p.R774H	TFR2_ENST00000544242.1_Missense_Mutation_p.R315H|TFR2_ENST00000431692.1_3'UTR|TFR2_ENST00000223051.3_Missense_Mutation_p.R774H			Q9UP52	TFR2_HUMAN	transferrin receptor 2	774					cellular iron ion homeostasis (GO:0006879)|iron ion transport (GO:0006826)|receptor-mediated endocytosis (GO:0006898)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)	transferrin receptor activity (GO:0004998)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	23	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)				Gallium nitrate(DB05260)	GGCTAGCTGACGCCGGAAACG	0.657																																						ENST00000462107.1																			0				central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	23						c.(2320-2322)cGt>cAt		transferrin receptor 2							31	29	30					7																	100218565		2203	4300	6503	SO:0001583	missense	7036				cellular iron ion homeostasis|iron ion transport|proteolysis	cytoplasm|integral to plasma membrane	peptidase activity|transferrin receptor activity	g.chr7:100218565C>T	AF053356	CCDS34707.1	7q22	2003-01-27			ENSG00000106327	ENSG00000106327			11762	protein-coding gene	gene with protein product		604720				9799793, 12130528	Standard	NM_003227		Approved	HFE3, TFRC2	uc003uvv.1	Q9UP52	OTTHUMG00000159598	ENST00000462107.1:c.2321G>A	7.37:g.100218565C>T	ENSP00000420525:p.Arg774His					TFR2_ENST00000431692.1_3'UTR|TFR2_ENST00000223051.3_Missense_Mutation_p.R774H|TFR2_ENST00000544242.1_Missense_Mutation_p.R315H	p.R774H			Q9UP52	TFR2_HUMAN			19	2608	-	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)		774					A6NGM7|O75422|Q1HE13|Q9HA99|Q9NX67	Missense_Mutation	SNP	ENST00000462107.1	37	c.2321G>A	CCDS34707.1	.	.	.	.	.	.	.	.	.	.	C	25.4	4.634411	0.87660	.	.	ENSG00000106327	ENST00000223051;ENST00000462107;ENST00000544242	T;T;T	0.60171	0.21;0.21;0.21	5.54	4.64	0.57946	Transferrin receptor-like, dimerisation domain (3);	0.114726	0.53938	D	0.000050	T	0.61776	0.2374	L	0.29908	0.895	0.80722	D	1	D	0.89917	1.0	D	0.74674	0.984	T	0.59852	-0.7376	10	0.48119	T	0.1	-12.2735	10.5447	0.45054	0.0:0.9109:0.0:0.0891	.	774	Q9UP52	TFR2_HUMAN	H	774;774;315	ENSP00000223051:R774H;ENSP00000420525:R774H;ENSP00000443656:R315H	ENSP00000223051:R774H	R	-	2	0	TFR2	100056501	0.000000	0.05858	1.000000	0.80357	0.989000	0.77384	0.281000	0.18810	2.890000	0.99128	0.650000	0.86243	CGT		0.657	TFR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356392.3	NM_003227		10	16	0	0	0	1	0	10	16					T	100218565	C	T	100218565	3	4	94	1	0	0	0	0	1	0	0	0	15808	536	19	1	88	1	TFR2	7	100218565	Missense_Mutation	SNP	C	TCGA-EJ-7782-01A-11D-2114-08	8492479	100218565	58920098	193	5012											
GIGYF1	64599	broad.mit.edu	37	chr7	100280926	100280926	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgaggcttgggagcacccaCgtgcttgcgccgaaacagct	8	7	13	13	3	0	1	0	1	0	0	0	3	0	2	2	2	5	4	2	2	1	2			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr7:100280926C>T	ENST00000275732.5	-	18	3403		c.e18+1		GIGYF1_ENST00000471340.2_5'Flank	NM_022574.4	NP_072096.2	O75420	PERQ1_HUMAN	GRB10 interacting GYF protein 1						insulin-like growth factor receptor signaling pathway (GO:0048009)					central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)					GGAGCACCCACGTGCTTGCGC	0.642																																						ENST00000275732.5																			0				central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23						c.e18+1		GRB10 interacting GYF protein 1							61	73	69					7																	100280926		2203	4300	6503	SO:0001630	splice_region_variant	64599							g.chr7:100280926C>T	AF053356	CCDS34708.1	7q22	2008-02-11	2008-02-11	2008-02-11	ENSG00000146830	ENSG00000146830			9126	protein-coding gene	gene with protein product	"GYF domain containing 1"	612064	"PERQ amino acid rich, with GYF domain 1"	PERQ1		9799793, 12771153	Standard	NM_022574		Approved	GYF1	uc003uwg.1	O75420	OTTHUMG00000157036	ENST00000275732.5:c.2193+1G>A	7.37:g.100280926C>T								NM_022574.4	NP_072096.2	O75420	PERQ1_HUMAN			18	3403	-	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)							Q6Y7W7|Q8WZ38	Splice_Site	SNP	ENST00000275732.5	37		CCDS34708.1	.	.	.	.	.	.	.	.	.	.	C	14.53	2.563770	0.45694	.	.	ENSG00000146830	ENST00000539430;ENST00000275732	.	.	.	4.34	4.34	0.51931	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.2952	0.43620	0.0:0.7994:0.2006:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	GIGYF1	100118862	1.000000	0.71417	0.963000	0.40424	0.624000	0.37722	3.055000	0.49916	2.261000	0.74972	0.313000	0.20887	.		0.642	GIGYF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347205.2	NM_022574	Intron	30	49	0	0	0	1	0	30	49					T	100280926	C	T	100280926	5	4	94	1	0	0	0	0	0	0	1	0	6377	550	19	1	941	1	GIGYF1	7	100280926	Splice_Site	SNP	C	TCGA-EJ-7782-01A-11D-2114-08	62361	100280926	58857737	194	5013											
GIGYF1	64599	broad.mit.edu	37	chr7	100284287	100284287	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcaccagggctggcggagcGccagcggtcgccgtctcgcc	4	5	15	17	6	2	0	1	0	1	0	4	1	2	1	4	4	2	1	4	4	0	0			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr7:100284287G>A	ENST00000275732.5	-	7	1888	c.679C>T	c.(679-681)Cgc>Tgc	p.R227C	GIGYF1_ENST00000471340.2_Intron	NM_022574.4	NP_072096.2	O75420	PERQ1_HUMAN	GRB10 interacting GYF protein 1	227					insulin-like growth factor receptor signaling pathway (GO:0048009)					central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)					CTGGCGGAGCGCCAGCGGTCG	0.687																																						ENST00000275732.5																			0				central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23						c.(679-681)Cgc>Tgc		GRB10 interacting GYF protein 1							29	36	34					7																	100284287		2194	4281	6475	SO:0001583	missense	64599							g.chr7:100284287G>A	AF053356	CCDS34708.1	7q22	2008-02-11	2008-02-11	2008-02-11	ENSG00000146830	ENSG00000146830			9126	protein-coding gene	gene with protein product	"GYF domain containing 1"	612064	"PERQ amino acid rich, with GYF domain 1"	PERQ1		9799793, 12771153	Standard	NM_022574		Approved	GYF1	uc003uwg.1	O75420	OTTHUMG00000157036	ENST00000275732.5:c.679C>T	7.37:g.100284287G>A	ENSP00000275732:p.Arg227Cys					GIGYF1_ENST00000471340.2_Intron	p.R227C	NM_022574.4	NP_072096.2	O75420	PERQ1_HUMAN			7	1888	-	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)		227					Q6Y7W7|Q8WZ38	Missense_Mutation	SNP	ENST00000275732.5	37	c.679C>T	CCDS34708.1	.	.	.	.	.	.	.	.	.	.	.	17.90	3.501457	0.64298	.	.	ENSG00000146830	ENST00000275732	D	0.84370	-1.84	4.96	4.96	0.65561	.	0.262105	0.33813	N	0.004525	D	0.83096	0.5180	L	0.32530	0.975	0.58432	D	0.999997	D	0.76494	0.999	P	0.53360	0.724	T	0.83107	-0.0125	10	0.49607	T	0.09	-15.1933	10.7376	0.46135	0.0:0.0:0.8103:0.1897	.	227	O75420	PERQ1_HUMAN	C	227	ENSP00000275732:R227C	ENSP00000275732:R227C	R	-	1	0	GIGYF1	100122223	1.000000	0.71417	1.000000	0.80357	0.858000	0.48976	3.913000	0.56394	2.571000	0.86741	0.563000	0.77884	CGC		0.687	GIGYF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347205.2	NM_022574		27	47	0	0	0	1	0	27	47					A	100284287	G	A	100284287	3	1	94	1	0	0	0	0	1	0	0	0	6377	1087	38	1	2500	1	GIGYF1	7	100284287	Missense_Mutation	SNP	G	TCGA-EJ-7782-01A-11D-2114-08	3361	100284287	58854376	195	5014											
MUC17	140453	broad.mit.edu	37	chr7	100685313	100685313	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgaggctagcaccctttcaaCaactcctgttgactccaaca	11	10	6	14	0	1	2	1	2	0	0	3	2	3	2	3	1	4	3	3	1	4	3	rs138135476		TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr7:100685313C>T	ENST00000306151.4	+	3	10680	c.10616C>T	c.(10615-10617)aCa>aTa	p.T3539I		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	3539	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					ACCCTTTCAACAACTCCTGTT	0.483																																						ENST00000306151.4																			0				NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343						c.(10615-10617)aCa>aTa		mucin 17, cell surface associated		C	ILE/THR	0,4406		0,0,2203	240	250	246		10616	1.3	0	7	dbSNP_134	246	1,8599	1.2+/-3.3	0,1,4299	no	missense	MUC17	NM_001040105.1	89	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	3539/4494	100685313	1,13005	2203	4300	6503	SO:0001583	missense	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100685313C>T	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"Mucins"	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.10616C>T	7.37:g.100685313C>T	ENSP00000302716:p.Thr3539Ile						p.T3539I	NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN			3	10680	+	Lung NSC(181;0.136)|all_lung(186;0.182)		3539			59 X approximate tandem repeats.|Ser-rich.		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	c.10616C>T	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	c	7.404	0.633342	0.14322	0.0	1.16E-4	ENSG00000169876	ENST00000306151	T	0.02015	4.5	1.28	1.28	0.21552	.	.	.	.	.	T	0.03608	0.0103	N	0.24115	0.695	0.09310	N	1	D	0.57899	0.981	P	0.60415	0.874	T	0.47761	-0.9092	9	0.49607	T	0.09	.	3.6512	0.08203	0.0:0.7368:0.0:0.2632	.	3539	Q685J3	MUC17_HUMAN	I	3539	ENSP00000302716:T3539I	ENSP00000302716:T3539I	T	+	2	0	MUC17	100472033	0.004000	0.15560	0.011000	0.14972	0.039000	0.13416	0.953000	0.29162	0.668000	0.31126	0.186000	0.17326	ACA		0.483	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		19	386	0	0	0	1	0	19	386					T	100685313	C	T	100685313	3	4	94	1	0	0	0	0	1	0	0	0	9974	478	17	3	10626	3	MUC17	7	100685313	Missense_Mutation	SNP	C	TCGA-EJ-7782-01A-11D-2114-08	401026	100685313	58453350	196	5015											
TRIM56	81844	broad.mit.edu	37	chr7	100732487	100732487	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcctggaggcaaggccagcCggggcctgcgggcgctggtg	4	6	19	12	3	0	0	0	0	0	0	1	1	1	1	4	7	2	2	4	7	1	1			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr7:100732487C>T	ENST00000306085.6	+	3	2191	c.1894C>T	c.(1894-1896)Cgg>Tgg	p.R632W		NM_030961.1	NP_112223.1	Q9BRZ2	TRI56_HUMAN	tripartite motif containing 56	632					defense response to virus (GO:0051607)|innate immune response (GO:0045087)|interferon-beta production (GO:0032608)|negative regulation of viral entry into host cell (GO:0046597)|negative regulation of viral release from host cell (GO:1902187)|positive regulation of type I interferon production (GO:0032481)|protein K63-linked ubiquitination (GO:0070534)|regulation of type I interferon production (GO:0032479)|response to type I interferon (GO:0034340)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	Lung NSC(181;0.136)|all_lung(186;0.182)					CAAGGCCAGCCGGGGCCTGCG	0.652																																					Ovarian(89;1092 1379 22756 38989 39611)	ENST00000306085.6																			0				breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						c.(1894-1896)Cgg>Tgg		tripartite motif containing 56							49	58	55					7																	100732487		1918	4119	6037	SO:0001583	missense	81844				defense response to virus|interferon-beta production|protein K63-linked ubiquitination|response to type I interferon	cytoplasm	ubiquitin-protein ligase activity|zinc ion binding	g.chr7:100732487C>T	BK000511	CCDS43625.1	7q11.2	2013-01-09	2011-01-25		ENSG00000169871	ENSG00000169871		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	19028	protein-coding gene	gene with protein product			"tripartite motif-containing 56"				Standard	NM_030961		Approved	RNF109	uc003uxq.3	Q9BRZ2	OTTHUMG00000157032	ENST00000306085.6:c.1894C>T	7.37:g.100732487C>T	ENSP00000305161:p.Arg632Trp						p.R632W	NM_030961.1	NP_112223.1	Q9BRZ2	TRI56_HUMAN			3	2191	+	Lung NSC(181;0.136)|all_lung(186;0.182)		632					Q6PJS5|Q86VT6|Q8N2H8|Q8NAC0|Q9H031	Missense_Mutation	SNP	ENST00000306085.6	37	c.1894C>T	CCDS43625.1	.	.	.	.	.	.	.	.	.	.	C	12.99	2.103257	0.37145	.	.	ENSG00000169871	ENST00000306085	T	0.30448	1.53	4.14	1.11	0.20524	Six-bladed beta-propeller, TolB-like (1);	.	.	.	.	T	0.24586	0.0596	N	0.08118	0	0.19575	N	0.999963	D	0.69078	0.997	P	0.53593	0.73	T	0.20672	-1.0268	9	0.66056	D	0.02	.	9.9173	0.41442	0.5771:0.4229:0.0:0.0	.	632	Q9BRZ2	TRI56_HUMAN	W	632	ENSP00000305161:R632W	ENSP00000305161:R632W	R	+	1	2	TRIM56	100519207	0.737000	0.28175	0.233000	0.24025	0.626000	0.37791	0.480000	0.22244	0.231000	0.21079	0.650000	0.86243	CGG		0.652	TRIM56-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347185.1	NM_030961		27	48	0	0	0	1	0	27	48					T	100732487	C	T	100732487	3	4	94	1	0	0	0	0	1	0	0	0	16527	643	23	2	1896	2	TRIM56	7	100732487	Missense_Mutation	SNP	C	TCGA-EJ-7782-01A-11D-2114-08	47174	100732487	58406176	197	5016											
CUX1	1523	broad.mit.edu	37	chr7	101921226	101921226	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctccccccccaggagaacCgcctggcccagcacaccctc	7	3	7	24	1	0	1	0	0	0	1	2	2	1	1	9	2	2	1	9	2	1	0			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr7:101921226C>T	ENST00000437600.4	+	18	1916	c.1564C>T	c.(1564-1566)Cgc>Tgc	p.R522C	CUX1_ENST00000547394.2_Missense_Mutation_p.R508C|CUX1_ENST00000425244.2_Missense_Mutation_p.R478C|CUX1_ENST00000292538.4_Missense_Mutation_p.R524C|CUX1_ENST00000393824.3_Missense_Mutation_p.R485C|CUX1_ENST00000560541.1_3'UTR	NM_181500.2	NP_852477.1	P39880	CUX1_HUMAN	cut-like homeobox 1	335					auditory receptor cell differentiation (GO:0042491)|kidney development (GO:0001822)|lung development (GO:0030324)|multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of dendrite morphogenesis (GO:0050775)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|retrograde transport, vesicle recycling within Golgi (GO:0000301)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi membrane (GO:0000139)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding (GO:0043565)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						CCAGGAGAACCGCCTGGCCCA	0.642																																						ENST00000437600.4																			0				breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						c.(1564-1566)Cgc>Tgc		cut-like homeobox 1							15	14	15					7																	101921226		2192	4285	6477	SO:0001583	missense	1523				negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:101921226C>T	M74099	CCDS5720.1, CCDS5721.1, CCDS47672.1, CCDS56498.1, CCDS56499.1, CCDS56500.1, CCDS59071.1	7q22.1	2012-10-03	2007-11-07	2007-11-07	ENSG00000257923	ENSG00000257923		"Homeoboxes / CUT class"	2557	protein-coding gene	gene with protein product	"golgi integral membrane protein 6"	116896	"cut (Drosophila)-like 1 (CCAAT displacement protein)", "cut-like 1, CCAAT displacement protein (Drosophila)"	CUTL1		8468066, 9799793, 15004235	Standard	NM_001202543		Approved	CDP, CDP1, CUX, CUT, Clox, CDP/Cut, CDP/Cux, Cux/CDP, CASP, GOLIM6	uc003uyx.4	P39880	OTTHUMG00000157129	ENST00000437600.4:c.1564C>T	7.37:g.101921226C>T	ENSP00000414091:p.Arg522Cys					CUX1_ENST00000560541.1_3'UTR|CUX1_ENST00000425244.2_Missense_Mutation_p.R478C|CUX1_ENST00000292538.4_Missense_Mutation_p.R524C|CUX1_ENST00000547394.2_Missense_Mutation_p.R508C|CUX1_ENST00000393824.3_Missense_Mutation_p.R485C	p.R522C	NM_181500.2	NP_852477.1	P39880	CUX1_HUMAN			18	1916	+			335					B3KV79|J3KQV9|Q6NYH4|Q75LE5|Q75MT2|Q75MT3|Q86UJ7|Q9UEV5	Missense_Mutation	SNP	ENST00000437600.4	37	c.1564C>T	CCDS47672.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.049017	0.75846	.	.	ENSG00000257923	ENST00000292538;ENST00000547394;ENST00000425244;ENST00000437600	T;T;T;T	0.37411	1.2;1.2;1.2;1.2	4.55	4.55	0.56014	CASP, C-terminal (1);	.	.	.	.	T	0.62122	0.2402	M	0.87097	2.86	0.37559	D	0.919008	D;D;D;D;D	0.89917	0.999;1.0;0.998;0.998;1.0	P;D;P;P;D	0.66847	0.877;0.947;0.899;0.731;0.916	T	0.72981	-0.4126	9	0.72032	D	0.01	.	12.8156	0.57663	0.1636:0.8364:0.0:0.0	.	485;478;508;522;524	B4DZZ2;B3KV79;G3V1Z6;Q13948-2;Q13948	.;.;.;.;CASP_HUMAN	C	524;508;478;522	ENSP00000292538:R524C;ENSP00000449371:R508C;ENSP00000409745:R478C;ENSP00000414091:R522C	ENSP00000292538:R524C	R	+	1	0	CUX1	101707946	1.000000	0.71417	1.000000	0.80357	0.914000	0.54420	2.716000	0.47219	2.281000	0.76405	0.456000	0.33151	CGC		0.642	CUX1-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000347534.3	NM_001913		3	2	0	0	0	1	0	3	2					T	101921226	C	T	101921226	3	4	94	1	0	0	0	0	1	0	0	0	4064	652	23	2	5010	2	CUX1	7	101921226	Missense_Mutation	SNP	C	TCGA-EJ-7782-01A-11D-2114-08	1188739	101921226	57217437	198	5017											
DNAJC2	27000	broad.mit.edu	37	chr7	102964991	102964992	+	Frame_Shift_Ins	INS	-	-	T																															tatcaccaagtttaggaacaINSttttttttatttgaccatct																										TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr7:102964991_102964992insT	ENST00000379263.3	-	6	840_841	c.590_591insA	c.(589-591)aatfs	p.N197fs	PMPCB_ENST00000420236.2_Intron|DNAJC2_ENST00000249270.7_Frame_Shift_Ins_p.N197fs	NM_014377.1	NP_055192.1	Q99543	DNJC2_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 2	197	ZRF1-UBD.				'de novo' cotranslational protein folding (GO:0051083)|chromatin modification (GO:0016568)|DNA replication (GO:0006260)|negative regulation of cell growth (GO:0030308)|negative regulation of DNA biosynthetic process (GO:2000279)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone binding (GO:0042393)|Hsp70 protein binding (GO:0030544)|poly(A) RNA binding (GO:0044822)|ubiquitin binding (GO:0043130)			endometrium(1)|kidney(9)|large_intestine(6)|lung(4)|ovary(1)	21						GTTTAGGAACATTTTTTTTATT	0.238																																						ENST00000379263.3																			0				endometrium(1)|kidney(9)|large_intestine(6)|lung(4)|ovary(1)	21						c.(589-591)agtfs		DnaJ (Hsp40) homolog, subfamily C, member 2																																				SO:0001589	frameshift_variant	27000				'de novo' cotranslational protein folding|chromatin modification|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nuclear membrane	chromatin binding|DNA binding|histone binding|Hsp70 protein binding|ubiquitin binding	g.chr7:102964991_102964992insT	X98260	CCDS43628.1, CCDS47679.1	7q22-q32	2011-09-02	2008-07-01	2008-07-01	ENSG00000105821	ENSG00000105821		"Heat shock proteins / DNAJ (HSP40)"	13192	protein-coding gene	gene with protein product		605502	"zuotin related factor 1"	ZRF1		8885239	Standard	NM_001129887		Approved	MPP11, MPHOSPH11, ZUO1, zuotin	uc003vbo.3	Q99543	OTTHUMG00000157202	ENST00000379263.3:c.591dupA	7.37:g.102964999_102964999dupT	ENSP00000368565:p.Asn197fs					DNAJC2_ENST00000249270.7_Frame_Shift_Ins_p.S197fs|PMPCB_ENST00000420236.2_Intron	p.S197fs	NM_014377.1	NP_055192.1	Q99543	DNJC2_HUMAN			6	840_841	-			197			ZRF1-UBD.		A4VCI0|Q9BVX1	Frame_Shift_Ins	INS	ENST00000379263.3	37	c.590_591insA	CCDS43628.1																																																																																				0.238	DNAJC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347891.1			18	51						18	51	---	---	---	---	T	102964992	-	T	102964991	7	5	94	1	0	1	1	0	0	0	0	0	4639	214	8	0	1322	0	DNAJC2	7	102964991	Frame_Shift_Ins	INS	-	TCGA-EJ-7782-01A-11D-2114-08	1043765	102964991	56173672	199	5018											
LAMB1	3912	broad.mit.edu	37	chr7	107592541	107592541	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccagctgccaggtattgggCgcacagcggtcacagttctg	7	8	14	12	2	2	0	1	0	1	0	2	0	2	0	2	3	3	4	2	3	1	3			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr7:107592541C>T	ENST00000222399.6	-	23	3437	c.3207G>A	c.(3205-3207)gcG>gcA	p.A1069A	LAMB1_ENST00000393561.1_Silent_p.A1093A	NM_002291.2	NP_002282.2	P07942	LAMB1_HUMAN	laminin, beta 1	1069	Laminin EGF-like 11. {ECO:0000255|PROSITE-ProRule:PRU00460}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|embryo implantation (GO:0007566)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of cell adhesion (GO:0007162)|neuron projection development (GO:0031175)|neuronal-glial interaction involved in cerebral cortex radial glia guided migration (GO:0021812)|odontogenesis (GO:0042476)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell proliferation (GO:0050679)|substrate adhesion-dependent cell spreading (GO:0034446)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-2 complex (GO:0005607)|laminin-8 complex (GO:0043257)|perinuclear region of cytoplasm (GO:0048471)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)|structural molecule activity (GO:0005198)			NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)	82						AGGTATTGGGCGCACAGCGGT	0.572																																						ENST00000393561.1																			0				NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)	82						c.(3277-3279)gcG>gcA		laminin, beta 1	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						67	50	56					7																	107592541		2203	4300	6503	SO:0001819	synonymous_variant	3912				axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm	extracellular matrix structural constituent	g.chr7:107592541C>T	M61916	CCDS5750.1	7q22	2013-03-01			ENSG00000091136	ENSG00000091136		"Laminins"	6486	protein-coding gene	gene with protein product		150240	"cutis laxa with marfanoid phenotype"	CLM		2563160, 2704655, 1864606	Standard	NM_002291		Approved		uc003vew.2	P07942	OTTHUMG00000149966	ENST00000222399.6:c.3207G>A	7.37:g.107592541C>T						LAMB1_ENST00000222399.6_Silent_p.A1069A	p.A1093A			P07942	LAMB1_HUMAN			21	3463	-			1069			Laminin EGF-like 12.		Q14D91	Silent	SNP	ENST00000222399.6	37	c.3279G>A	CCDS5750.1																																																																																				0.572	LAMB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314584.1	NM_002291		3	11	0	0	0	1	0	3	11					T	107592541	C	T	107592541	2	4	94	1	0	0	0	0	0	0	0	1	8610	755	27	1		1	LAMB1	7	107592541	Silent	SNP	C	TCGA-EJ-7782-01A-11D-2114-08	4627550	107592541	51546122	200	5019											
LRRN3	54674	broad.mit.edu	37	chr7	110763518	110763518	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctcacagaaataccagataaCgccttggttggactggaaaa	15	8	9	9	1	1	2	1	0	0	2	1	4	1	4	2	3	2	1	2	3	5	4	rs146797927	byFrequency	TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr7:110763518C>T	ENST00000422987.3	+	2	1521	c.690C>T	c.(688-690)aaC>aaT	p.N230N	IMMP2L_ENST00000447215.1_Intron|IMMP2L_ENST00000415362.1_Intron|IMMP2L_ENST00000489381.1_Intron|LRRN3_ENST00000451085.1_Silent_p.N230N|LRRN3_ENST00000308478.5_Silent_p.N230N|IMMP2L_ENST00000405709.2_Intron|IMMP2L_ENST00000331762.3_Intron|IMMP2L_ENST00000450877.1_Intron|IMMP2L_ENST00000452895.1_Intron|IMMP2L_ENST00000437687.1_Intron	NM_018334.4	NP_060804.3	Q9H3W5	LRRN3_HUMAN	leucine rich repeat neuronal 3	230					positive regulation of protein phosphorylation (GO:0001934)	clathrin adaptor complex (GO:0030131)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.N230N(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(15)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				UCEC - Uterine corpus endometrioid carcinoma (4;0.245)|LUSC - Lung squamous cell carcinoma(290;0.0715)|Lung(3;0.0864)|STAD - Stomach adenocarcinoma(3;0.125)		TACCAGATAACGCCTTGGTTG	0.358													T|||	2	0.000399361	0	0	5008	,	,		18436	0		0	False		,,,				2504	0.002					ENST00000451085.1																			1	Substitution - coding silent(1)	p.N230N(1)	large_intestine(1)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(15)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	55						c.(688-690)aaC>aaT		leucine rich repeat neuronal 3		T	,,,	0,4406		0,0,2203	68	70	69		690,690,690,	0.8	1	7	dbSNP_134	69	2,8596	816.0+/-406.9	0,2,4297	no	coding-synonymous,coding-synonymous,coding-synonymous,intron	LRRN3,IMMP2L	NM_001099658.1,NM_001099660.1,NM_018334.4,NM_032549.3	,,,	0,2,6500	TT,TC,CC		0.0233,0.0,0.0154	,,,	230/709,230/709,230/709,	110763518	2,13002	2203	4299	6502	SO:0001819	synonymous_variant	54674					integral to membrane		g.chr7:110763518C>T	AB060967	CCDS5754.1	7q31.1	2013-02-11			ENSG00000173114	ENSG00000173114		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	17200	protein-coding gene	gene with protein product	"fibronectin type III, immunoglobulin and leucine rich repeat domains 5"					11549284	Standard	NM_001099660		Approved	NLRR3, FLJ11129, FIGLER5	uc003vfs.4	Q9H3W5	OTTHUMG00000155039	ENST00000422987.3:c.690C>T	7.37:g.110763518C>T						LRRN3_ENST00000308478.5_Silent_p.N230N|IMMP2L_ENST00000489381.1_Intron|IMMP2L_ENST00000450877.1_Intron|IMMP2L_ENST00000331762.3_Intron|IMMP2L_ENST00000415362.1_Intron|LRRN3_ENST00000422987.3_Silent_p.N230N|IMMP2L_ENST00000447215.1_Intron|IMMP2L_ENST00000452895.1_Intron|IMMP2L_ENST00000437687.1_Intron|IMMP2L_ENST00000405709.2_Intron	p.N230N	NM_001099660.1	NP_001093130.1	Q9H3W5	LRRN3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;0.245)|LUSC - Lung squamous cell carcinoma(290;0.0715)|Lung(3;0.0864)|STAD - Stomach adenocarcinoma(3;0.125)	4	1736	+			230					O43377|Q6I9V8|Q8IYQ6	Silent	SNP	ENST00000422987.3	37	c.690C>T	CCDS5754.1																																																																																				0.358	LRRN3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338171.2	NM_018334		7	66	0	0	0	1	0	7	66					T	110763518	C	T	110763518	2	4	94	1	0	0	0	0	0	0	0	1	9036	535	19	1		1	LRRN3	7	110763518	Silent	SNP	C	TCGA-EJ-7782-01A-11D-2114-08	3170977	110763518	48375145	201	5020											
C7orf60	154743	broad.mit.edu	37	chr7	112579785	112579785	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgcgcacgagcagtatttcgGccgccggcccctggctccat	5	8	12	16	5	0	0	0	0	0	0	2	1	1	0	5	3	2	4	5	3	1	2	rs573341242	byFrequency	TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr7:112579785G>A	ENST00000297145.4	-	1	186	c.21C>T	c.(19-21)ggC>ggT	p.G7G	C7orf60_ENST00000485446.1_5'Flank	NM_152556.2	NP_689769.2	Q1RMZ1	BMT2_HUMAN	chromosome 7 open reading frame 60	7							rRNA (adenine) methyltransferase activity (GO:0016433)			breast(1)|endometrium(2)|lung(7)|ovary(3)|prostate(2)|skin(1)|urinary_tract(1)	17						CAGTATTTCGGCCGCCGGCCC	0.726													G|||	4	0.000798722	0	0	5008	,	,		8686	0		0	False		,,,				2504	0.0041					ENST00000297145.4																			0				breast(1)|endometrium(2)|lung(7)|ovary(3)|prostate(2)|skin(1)|urinary_tract(1)	17						c.(19-21)ggC>ggT		chromosome 7 open reading frame 60							11	13	12					7																	112579785		1809	4036	5845	SO:0001819	synonymous_variant	154743							g.chr7:112579785G>A		CCDS43634.1	7q31.1	2011-01-11	2008-06-19		ENSG00000164603	ENSG00000164603			26475	protein-coding gene	gene with protein product	"hypothetical protein FLJ31818"						Standard	NM_152556		Approved	DKFZp762M126, FLJ31818	uc003vgo.1	Q1RMZ1	OTTHUMG00000155233	ENST00000297145.4:c.21C>T	7.37:g.112579785G>A							p.G7G	NM_152556.2	NP_689769.2	Q1RMZ1	CG060_HUMAN			1	186	-			7					Q8N3D0|Q96MV7	Silent	SNP	ENST00000297145.4	37	c.21C>T	CCDS43634.1																																																																																				0.726	C7orf60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338923.1	NM_152556		6	9	0	0	0	1	0	6	9					A	112579785	G	A	112579785	2	1	94	1	0	0	0	0	0	0	0	1	2407	1190	42	3		3	C7orf60	7	112579785	Silent	SNP	G	TCGA-EJ-7782-01A-11D-2114-08	1816267	112579785	46558878	202	5021											
SPAM1	6677	broad.mit.edu	37	chr7	123594472	123594472	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctatgtgcgcaatcgagttcGggaagccatcagagtttcca	10	10	11	10	3	1	1	1	0	0	1	4	3	2	2	2	1	2	3	2	1	3	3	rs147745114		TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr7:123594472G>A	ENST00000439500.1	+	4	1461	c.848G>A	c.(847-849)cGg>cAg	p.R283Q	SPAM1_ENST00000460182.1_Missense_Mutation_p.R283Q|SPAM1_ENST00000402183.2_Missense_Mutation_p.R283Q|SPAM1_ENST00000223028.7_Missense_Mutation_p.R283Q|SPAM1_ENST00000340011.5_Missense_Mutation_p.R283Q	NM_001174045.1|NM_001174046.1	NP_001167516.1|NP_001167517.1	P38567	HYALP_HUMAN	sperm adhesion molecule 1 (PH-20 hyaluronidase, zona pellucida binding)	283					binding of sperm to zona pellucida (GO:0007339)|carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|fusion of sperm to egg plasma membrane (GO:0007342)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)	hyalurononglucosaminidase activity (GO:0004415)			breast(1)|cervix(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(23)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						AATCGAGTTCGGGAAGCCATC	0.423																																						ENST00000340011.5																			0				breast(1)|cervix(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(23)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						c.(847-849)cGg>cAg		sperm adhesion molecule 1 (PH-20 hyaluronidase, zona pellucida binding)	Hyaluronidase(DB00070)	A	GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG	1,4405	824.2+/-416.5	0,1,2202	83	78	80		848,848,848,848,848	-4.2	0	7	dbSNP_134	80	0,8600		0,0,4300	no	missense,missense,missense,missense,missense	SPAM1	NM_001174044.1,NM_001174045.1,NM_001174046.1,NM_003117.4,NM_153189.2	43,43,43,43,43	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign,benign,benign,benign,benign	283/510,283/510,283/510,283/512,283/510	123594472	1,13005	2203	4300	6503	SO:0001583	missense	0				binding of sperm to zona pellucida|carbohydrate metabolic process|cell adhesion|fusion of sperm to egg plasma membrane	anchored to membrane|plasma membrane	hyalurononglucosaminidase activity	g.chr7:123594472G>A	L13781	CCDS5790.1, CCDS5791.1	7q31	2008-05-02			ENSG00000106304	ENSG00000106304			11217	protein-coding gene	gene with protein product		600930				8282124, 8575780	Standard	NM_153189		Approved	HYAL5, PH-20, SPAG15	uc003vle.3	P38567	OTTHUMG00000157284	ENST00000439500.1:c.848G>A	7.37:g.123594472G>A	ENSP00000402123:p.Arg283Gln					SPAM1_ENST00000439500.1_Missense_Mutation_p.R283Q|SPAM1_ENST00000223028.7_Missense_Mutation_p.R283Q|SPAM1_ENST00000402183.2_Missense_Mutation_p.R283Q|SPAM1_ENST00000460182.1_Missense_Mutation_p.R283Q	p.R283Q	NM_003117.4	NP_003108.2	P38567	HYALP_HUMAN			3	1205	+			283					Q8TC30	Missense_Mutation	SNP	ENST00000439500.1	37	c.848G>A	CCDS5791.1	.	.	.	.	.	.	.	.	.	.	A	3.931	-0.016253	0.07681	2.27E-4	0.0	ENSG00000106304	ENST00000402183;ENST00000460182;ENST00000340011;ENST00000439500;ENST00000223028	T;T;T;T;T	0.21031	2.03;2.03;2.03;2.03;2.03	6.17	-4.25	0.03766	Aldolase-type TIM barrel (1);Glycoside hydrolase, superfamily (1);	0.748815	0.13390	N	0.391461	T	0.04407	0.0121	N	0.01202	-0.96	0.09310	N	1	B;B	0.09022	0.001;0.002	B;B	0.06405	0.001;0.002	T	0.31166	-0.9953	9	.	.	.	0.1308	2.7787	0.05355	0.5624:0.0881:0.1784:0.1711	.	283;283	Q8TC30;P38567	.;HYALP_HUMAN	Q	283	ENSP00000386028:R283Q;ENSP00000417934:R283Q;ENSP00000345849:R283Q;ENSP00000402123:R283Q;ENSP00000223028:R283Q	.	R	+	2	0	SPAM1	123381708	0.000000	0.05858	0.000000	0.03702	0.017000	0.09413	0.417000	0.21214	-1.439000	0.01962	-2.248000	0.00284	CGG		0.423	SPAM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000348309.1			27	46	0	0	0	1	0	27	46					A	123594472	G	A	123594472	3	1	94	1	0	0	0	0	1	0	0	0	14986	1116	39	2	850	2	SPAM1	7	123594472	Missense_Mutation	SNP	G	TCGA-EJ-7782-01A-11D-2114-08	11014687	123594472	35544191	203	5022											
GCC1	79571	broad.mit.edu	37	chr7	127223060	127223060	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacctggcttttcctggccgCaacctgcagcagcctcttca	6	10	8	17	1	2	0	1	0	1	0	3	0	3	0	5	2	4	4	5	2	1	3			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr7:127223060C>T	ENST00000321407.2	-	2	1760	c.1336G>A	c.(1336-1338)Gcg>Acg	p.A446T	GCC1_ENST00000497650.1_5'UTR	NM_024523.5	NP_078799.2	Q96CN9	GCC1_HUMAN	GRIP and coiled-coil domain containing 1	446					protein targeting to Golgi (GO:0000042)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)				breast(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						TTCCTGGCCGCAACCTGCAGC	0.557																																						ENST00000321407.2																			0				breast(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						c.(1336-1338)Gcg>Acg		GRIP and coiled-coil domain containing 1							94	99	97					7																	127223060		2203	4300	6503	SO:0001583	missense	79571					Golgi membrane|plasma membrane	protein binding	g.chr7:127223060C>T	AF525417	CCDS5796.1	7q22.3	2004-03-05	2003-10-17		ENSG00000179562	ENSG00000179562			19095	protein-coding gene	gene with protein product		607418	"golgi coiled-coil 1"			10209125	Standard	NM_024523		Approved	FLJ22035, GCC88, GCC1P, MGC20706	uc003vma.3	Q96CN9	OTTHUMG00000023590	ENST00000321407.2:c.1336G>A	7.37:g.127223060C>T	ENSP00000318821:p.Ala446Thr					GCC1_ENST00000497650.1_5'UTR	p.A446T	NM_024523.5	NP_078799.2	Q96CN9	GCC1_HUMAN			2	1760	-			446					Q9H6N7	Missense_Mutation	SNP	ENST00000321407.2	37	c.1336G>A	CCDS5796.1	.	.	.	.	.	.	.	.	.	.	C	19.02	3.745218	0.69418	.	.	ENSG00000179562	ENST00000321407	T	0.15139	2.45	5.12	3.3	0.37823	.	0.000000	0.85682	D	0.000000	T	0.31827	0.0809	M	0.66939	2.045	0.58432	D	0.999996	D	0.89917	1.0	D	0.83275	0.996	T	0.14476	-1.0471	10	0.18276	T	0.48	-5.7036	6.6895	0.23163	0.176:0.7331:0.0:0.0909	.	446	Q96CN9	GCC1_HUMAN	T	446	ENSP00000318821:A446T	ENSP00000318821:A446T	A	-	1	0	GCC1	127010296	1.000000	0.71417	0.800000	0.32199	0.948000	0.59901	6.994000	0.76251	0.660000	0.30964	0.655000	0.94253	GCG		0.557	GCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059911.3	NM_024523		20	64	0	0	0	1	0	20	64					T	127223060	C	T	127223060	3	4	94	1	0	0	0	0	1	0	0	0	6285	710	25	3	995	3	GCC1	7	127223060	Missense_Mutation	SNP	C	TCGA-EJ-7782-01A-11D-2114-08	3628588	127223060	31915603	204	5023											
ZNF777	27153	broad.mit.edu	37	chr7	149133690	149133690	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcagttcctctgctgcaccaGcatctgcttcagttcgctga	6	12	9	14	1	3	1	1	1	2	0	5	1	4	1	2	0	4	8	2	0	0	3			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr7:149133690G>A	ENST00000247930.4	-	5	1638	c.1315C>T	c.(1315-1317)Ctg>Ttg	p.L439L		NM_015694.2	NP_056509.2	Q9ULD5	ZN777_HUMAN	zinc finger protein 777	439	Glu-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			large_intestine(5)|lung(17)|ovary(1)|skin(2)|urinary_tract(1)	26	Melanoma(164;0.165)		OV - Ovarian serous cystadenocarcinoma(82;0.00358)			TGCTGCACCAGCATCTGCTTC	0.657																																						ENST00000247930.4																			0				large_intestine(5)|lung(17)|ovary(1)|skin(2)|urinary_tract(1)	26						c.(1315-1317)Ctg>Ttg		zinc finger protein 777							51	55	54					7																	149133690		2040	4177	6217	SO:0001819	synonymous_variant	27153				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:149133690G>A	AB033111	CCDS43675.1	7q36.1	2013-01-08			ENSG00000196453	ENSG00000196453		"Zinc fingers, C2H2-type", "-"	22213	protein-coding gene	gene with protein product							Standard	NM_015694		Approved	KIAA1285	uc003wfv.3	Q9ULD5	OTTHUMG00000158967	ENST00000247930.4:c.1315C>T	7.37:g.149133690G>A							p.L439L	NM_015694.2	NP_056509.2	Q9ULD5	ZN777_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00358)		5	1638	-	Melanoma(164;0.165)		439			Glu-rich.		Q8N2R2|Q8N659	Silent	SNP	ENST00000247930.4	37	c.1315C>T	CCDS43675.1																																																																																				0.657	ZNF777-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352708.1	NM_015694		24	51	0	0	0	1	0	24	51					A	149133690	G	A	149133690	2	1	94	1	0	0	0	0	0	0	0	1	18147	962	34	3		3	ZNF777	7	149133690	Silent	SNP	G	TCGA-EJ-7782-01A-11D-2114-08	21910630	149133690	10004973	205	5024											
GIMAP8	155038	broad.mit.edu	37	chr7	150174667	150174667	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagtgtgggcggcgagtttgTgcttttaacaacaaagaaac	13	10	12	6	2	0	1	0	0	0	1	0	2	0	1	0	2	4	2	0	2	5	3			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr7:150174667T>G	ENST00000307271.3	+	5	2371	c.1797T>G	c.(1795-1797)tgT>tgG	p.C599W		NM_175571.2	NP_783161.1	Q8ND71	GIMA8_HUMAN	GTPase, IMAP family member 8	599	AIG1-type G 3.					cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	GTP binding (GO:0005525)			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(26)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.17)		GGCGAGTTTGTGCTTTTAACA	0.473																																						ENST00000307271.3																			0				breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(26)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	62						c.(1795-1797)tgT>tgG		GTPase, IMAP family member 8							76	89	84					7																	150174667		2203	4300	6503	SO:0001583	missense	155038					endoplasmic reticulum|Golgi apparatus|mitochondrion	GTP binding	g.chr7:150174667T>G	AL834361	CCDS34777.1	7q36.1	2014-04-04			ENSG00000171115	ENSG00000171115		"GTPases, IMAP"	21792	protein-coding gene	gene with protein product	"immune-associated nucleotide-binding protein 9"					15474311	Standard	XM_005249951		Approved	DKFZp667I133, hIAN6, IAN9	uc003whj.3	Q8ND71	OTTHUMG00000158327	ENST00000307271.3:c.1797T>G	7.37:g.150174667T>G	ENSP00000305107:p.Cys599Trp						p.C599W	NM_175571.2	NP_783161.1	Q8ND71	GIMA8_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.17)	5	2371	+			599						Missense_Mutation	SNP	ENST00000307271.3	37	c.1797T>G	CCDS34777.1	.	.	.	.	.	.	.	.	.	.	T	11.01	1.513692	0.27123	.	.	ENSG00000171115	ENST00000307271	T	0.06687	3.27	4.44	1.99	0.26369	AIG1 (1);	0.139018	0.33650	N	0.004694	T	0.13884	0.0336	M	0.89095	3.005	0.46609	D	0.999123	B	0.34399	0.452	B	0.36766	0.232	T	0.01363	-1.1374	10	0.72032	D	0.01	.	4.0846	0.09942	0.0:0.1102:0.2124:0.6775	.	599	Q8ND71	GIMA8_HUMAN	W	599	ENSP00000305107:C599W	ENSP00000305107:C599W	C	+	3	2	GIMAP8	149805600	0.996000	0.38824	0.540000	0.28089	0.014000	0.08584	0.318000	0.19504	0.241000	0.21283	0.533000	0.62120	TGT		0.473	GIMAP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350701.1	NM_175571		27	55	0	0	0	1	0	27	55					G	150174667	T	G	150174667	3	3	94	1	0	0	0	0	1	0	0	0	6385	1702	59	5	1811	5	GIMAP8	7	150174667	Missense_Mutation	SNP	T	TCGA-EJ-7782-01A-11D-2114-08	1040977	150174667	8963996	206	5025											
SLC7A2	6542	broad.mit.edu	37	chr8	17400870	17400870	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgattccttgcagagccgcgCtgacctttgcccgatgtctg	5	12	11	13	3	1	3	0	2	1	1	2	4	2	3	4	0	3	2	4	0	0	3			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr8:17400870C>T	ENST00000494857.1	+	3	240	c.22C>T	c.(22-24)Ctg>Ttg	p.L8L	SLC7A2_ENST00000470360.1_Silent_p.L48L|SLC7A2_ENST00000398090.3_Silent_p.L48L|SLC7A2_ENST00000522656.1_Silent_p.L8L|SLC7A2_ENST00000004531.10_Silent_p.L48L	NM_001008539.3	NP_001008539.3	P52569	CTR2_HUMAN	solute carrier family 7 (cationic amino acid transporter, y+ system), member 2	8					amino acid transport (GO:0006865)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|macrophage activation (GO:0042116)|nitric oxide biosynthetic process (GO:0006809)|nitric oxide production involved in inflammatory response (GO:0002537)|regulation of inflammatory response (GO:0050727)|regulation of macrophage activation (GO:0043030)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	basic amino acid transmembrane transporter activity (GO:0015174)|high-affinity arginine transmembrane transporter activity (GO:0005289)|L-lysine transmembrane transporter activity (GO:0015189)|L-ornithine transmembrane transporter activity (GO:0000064)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|stomach(1)	25				Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216)	L-Lysine(DB00123)|L-Ornithine(DB00129)	CAGAGCCGCGCTGACCTTTGC	0.522																																						ENST00000470360.1																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|stomach(1)	25						c.(142-144)Ctg>Ttg		solute carrier family 7 (cationic amino acid transporter, y+ system), member 2	L-Lysine(DB00123)|L-Ornithine(DB00129)						85	81	82					8																	17400870		2203	4300	6503	SO:0001819	synonymous_variant	6542				cellular amino acid metabolic process|ion transport	cytoplasm|integral to plasma membrane|membrane fraction	basic amino acid transmembrane transporter activity	g.chr8:17400870C>T	D29990	CCDS6002.2, CCDS34852.1, CCDS55203.1	8p22	2013-05-22			ENSG00000003989	ENSG00000003989		"Solute carriers"	11060	protein-coding gene	gene with protein product		601872		ATRC2		8954799	Standard	NM_001164771		Approved	CAT-2, HCAT2	uc011kye.2	P52569	OTTHUMG00000130819	ENST00000494857.1:c.22C>T	8.37:g.17400870C>T						SLC7A2_ENST00000004531.10_Silent_p.L48L|SLC7A2_ENST00000494857.1_Silent_p.L8L|SLC7A2_ENST00000522656.1_Silent_p.L8L|SLC7A2_ENST00000398090.3_Silent_p.L48L	p.L48L			P52569	CTR2_HUMAN		Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216)	4	259	+			8					B7ZL54|O15291|O15292|Q14CQ6|Q6NSZ7|Q86TC6	Silent	SNP	ENST00000494857.1	37	c.142C>T	CCDS34852.1																																																																																				0.522	SLC7A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253367.3	NM_003046		14	13	0	0	0	1	0	14	13					T	17400870	C	T	17400870	2	4	94	1	0	0	0	0	0	0	0	1	14697	796	28	3		3	SLC7A2	8	17400870	Silent	SNP	C	TCGA-EJ-7782-01A-11D-2114-08		17400870	128963152	207	5026											
PNMA2	10687	broad.mit.edu	37	chr8	26365435	26365435	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gggatggcgcgtttctccacCgctctccggagcagggtttc	4	10	14	13	4	2	0	0	0	2	0	5	2	2	2	3	4	1	4	3	4	0	2			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr8:26365435C>T	ENST00000522362.2	-	3	1731	c.837G>A	c.(835-837)gcG>gcA	p.A279A	PNMA2_ENST00000522764.1_5'Flank	NM_007257.5	NP_009188.1	Q9UL42	PNMA2_HUMAN	paraneoplastic Ma antigen 2	279					positive regulation of apoptotic process (GO:0043065)	nucleus (GO:0005634)				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)	11		all_cancers(63;0.109)|Ovarian(32;2.61e-05)|all_epithelial(46;0.105)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0196)|Epithelial(17;3.13e-11)|Colorectal(74;0.123)		gtttctccaccgctctccgga	0.602																																						ENST00000522362.2																			0				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)	11						c.(835-837)gcG>gcA		paraneoplastic Ma antigen 2							47	47	47					8																	26365435		2203	4300	6503	SO:0001819	synonymous_variant	10687				apoptosis	nucleolus	protein binding	g.chr8:26365435C>T		CCDS34868.1	8p21.1	2012-02-09	2012-02-09		ENSG00000240694	ENSG00000240694		"Paraneoplastic Ma antigens"	9159	protein-coding gene	gene with protein product		603970	"paraneoplastic antigen MA2"			10362822	Standard	NM_007257		Approved	MA2, RGAG2	uc003xez.2	Q9UL42	OTTHUMG00000163816	ENST00000522362.2:c.837G>A	8.37:g.26365435C>T							p.A279A	NM_007257.5	NP_009188.1	Q9UL42	PNMA2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0196)|Epithelial(17;3.13e-11)|Colorectal(74;0.123)	3	1731	-		all_cancers(63;0.109)|Ovarian(32;2.61e-05)|all_epithelial(46;0.105)	279					B3KNY9|O94959|O95145|Q49A18|Q9UL43	Silent	SNP	ENST00000522362.2	37	c.837G>A	CCDS34868.1																																																																																				0.602	PNMA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375709.2	NM_007257		5	46	0	0	0	1	0	5	46					T	26365435	C	T	26365435	2	4	94	1	0	0	0	0	0	0	0	1	12154	639	23	2		2	PNMA2	8	26365435	Silent	SNP	C	TCGA-EJ-7782-01A-11D-2114-08	8964565	26365435	119998587	208	5027											
C8orf41	80185	broad.mit.edu	37	chr8	33357854	33357854	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtctgccttacctttacccGtccttgagaacagcggtcca	8	11	8	14	2	1	1	0	1	1	1	3	2	3	1	5	1	5	0	5	1	3	4	rs190298167	byFrequency	TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr8:33357854G>A	ENST00000431156.2	-	7	2032	c.1414C>T	c.(1414-1416)Cgg>Tgg	p.R472W	TTI2_ENST00000520636.1_Missense_Mutation_p.R441W|TTI2_ENST00000519356.1_5'UTR|MAK16_ENST00000360128.6_3'UTR|TTI2_ENST00000360742.5_Missense_Mutation_p.R472W	NM_001102401.2	NP_001095871.1	Q6NXR4	TTI2_HUMAN	TELO2 interacting protein 2	472																	ACCTTTACCCGTCCTTGAGAA	0.468													G|||	4	0.000798722	0	0	5008	,	,		6133	0.001		0.001	False		,,,				2504	0.002					ENST00000431156.2																			0											c.(1414-1416)Cgg>Tgg		TELO2 interacting protein 2							80	70	73					8																	33357854		2203	4300	6503	SO:0001583	missense	80185						binding	g.chr8:33357854G>A	AK026916	CCDS6090.1	8p12	2011-11-10	2011-11-10	2011-09-22		ENSG00000129696			26262	protein-coding gene	gene with protein product		614426	"chromosome 8 open reading frame 41", "Tel2 interacting protein 2 homolog (S. pombe)"	C8orf41		20801936, 20810650	Standard	NM_025115		Approved	FLJ23263	uc003xjm.5	Q6NXR4		ENST00000431156.2:c.1414C>T	8.37:g.33357854G>A	ENSP00000411169:p.Arg472Trp					TTI2_ENST00000519356.1_5'UTR|TTI2_ENST00000520636.1_Missense_Mutation_p.R441W|TTI2_ENST00000360742.5_Missense_Mutation_p.R472W|MAK16_ENST00000360128.6_3'UTR	p.R472W	NM_001102401.2	NP_001095871.1	Q6NXR4	CH041_HUMAN			7	2032	-			472					D3DSV7|Q96IM2|Q9H5N4	Missense_Mutation	SNP	ENST00000431156.2	37	c.1414C>T	CCDS6090.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	16.59	3.166269	0.57476	.	.	ENSG00000129696	ENST00000360742;ENST00000431156;ENST00000522668;ENST00000520636	T;T;T	0.56103	0.48;0.48;0.49	5.38	5.38	0.77491	.	0.609692	0.16624	N	0.206367	T	0.49115	0.1538	L	0.36672	1.1	0.80722	D	1	D;D	0.69078	0.995;0.997	B;B	0.44315	0.446;0.332	T	0.54801	-0.8239	10	0.66056	D	0.02	-5.4564	16.6358	0.85059	0.0:0.0:1.0:0.0	.	472;441	Q6NXR4;E5RIH5	TTI2_HUMAN;.	W	472;472;461;441	ENSP00000353971:R472W;ENSP00000411169:R472W;ENSP00000428401:R441W	ENSP00000353971:R472W	R	-	1	2	C8orf41	33477396	0.056000	0.20664	0.120000	0.21714	0.407000	0.30961	2.467000	0.45093	2.523000	0.85059	0.557000	0.71058	CGG		0.468	TTI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376555.1	NM_025115		11	30	0	0	0	1	0	11	30					A	33357854	G	A	33357854	3	1	94	1	0	0	0	0	1	0	0	0	2427	1144	40	1	120	1	C8orf41	8	33357854	Missense_Mutation	SNP	G	TCGA-EJ-7782-01A-11D-2114-08	6992419	33357854	113006168	209	5028											
UNC5D	137970	broad.mit.edu	37	chr8	35425622	35425622	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tctcccaccatcaggtttgaAggtccgcgaagtgttcatca	9	11	9	12	2	4	1	3	1	1	0	6	2	5	1	3	2	0	2	3	2	2	2			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr8:35425622A>G	ENST00000404895.2	+	3	657	c.329A>G	c.(328-330)aAg>aGg	p.K110R	UNC5D_ENST00000453357.2_Missense_Mutation_p.K105R|UNC5D_ENST00000416672.1_Missense_Mutation_p.K110R|UNC5D_ENST00000287272.2_Missense_Mutation_p.K110R|UNC5D_ENST00000420357.1_Missense_Mutation_p.K110R	NM_080872.2	NP_543148.2	Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D (C. elegans)	110	Ig-like.				apoptotic process (GO:0006915)|axon guidance (GO:0007411)|pyramidal neuron differentiation (GO:0021859)|regulation of neuron migration (GO:2001222)|signal transduction (GO:0007165)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)				NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		TCAGGTTTGAAGGTCCGCGAA	0.463																																						ENST00000287272.2																			0				NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112						c.(328-330)aAg>aGg		unc-5 homolog D (C. elegans)							163	166	165					8																	35425622		2203	4300	6503	SO:0001583	missense	137970				apoptosis|axon guidance	integral to membrane	receptor activity	g.chr8:35425622A>G	AB055056	CCDS6093.2	8p12	2013-01-11			ENSG00000156687	ENSG00000156687		"Immunoglobulin superfamily / I-set domain containing"	18634	protein-coding gene	gene with protein product						18402767	Standard	NM_080872		Approved	KIAA1777, Unc5h4	uc003xjr.2	Q6UXZ4	OTTHUMG00000157145	ENST00000404895.2:c.329A>G	8.37:g.35425622A>G	ENSP00000385143:p.Lys110Arg					UNC5D_ENST00000416672.1_Missense_Mutation_p.K110R|UNC5D_ENST00000453357.2_Missense_Mutation_p.K105R|UNC5D_ENST00000404895.2_Missense_Mutation_p.K110R|UNC5D_ENST00000420357.1_Missense_Mutation_p.K110R	p.K110R			Q6UXZ4	UNC5D_HUMAN		READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)	3	349	+			110			Ig-like.		Q8WYP7	Missense_Mutation	SNP	ENST00000404895.2	37	c.329A>G	CCDS6093.2	.	.	.	.	.	.	.	.	.	.	A	11.21	1.572314	0.28092	.	.	ENSG00000156687	ENST00000404895;ENST00000420357;ENST00000287272;ENST00000416672;ENST00000453357	T;T;T;T;T	0.38401	1.14;1.14;1.14;1.14;1.14	5.16	5.16	0.70880	Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.32071	0.0817	N	0.03050	-0.425	0.80722	D	1	D;D	0.71674	0.998;0.993	D;P	0.77557	0.99;0.866	T	0.27123	-1.0083	10	0.09084	T	0.74	-23.6189	15.2986	0.73928	1.0:0.0:0.0:0.0	.	105;110	Q6UXZ4-2;Q6UXZ4	.;UNC5D_HUMAN	R	110;110;110;110;105	ENSP00000385143:K110R;ENSP00000392739:K110R;ENSP00000287272:K110R;ENSP00000412652:K110R;ENSP00000394303:K105R	ENSP00000287272:K110R	K	+	2	0	UNC5D	35545164	1.000000	0.71417	1.000000	0.80357	0.569000	0.35902	3.358000	0.52284	2.070000	0.61991	0.533000	0.62120	AAG		0.463	UNC5D-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000347586.2			11	131	0	0	0	1	0	11	131					G	35425622	A	G	35425622	3	3	94	1	0	0	0	0	1	0	0	0	16992	72	3	4	339	4	UNC5D	8	35425622	Missense_Mutation	SNP	A	TCGA-EJ-7782-01A-11D-2114-08	2067768	35425622	110938400	210	5029											
GPR124	25960	broad.mit.edu	37	chr8	37697698	37697698	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctggatgggcgtgaaggcGcgagtgctccataaggagct	8	8	16	9	3	1	1	0	1	1	0	2	4	2	3	1	4	2	2	1	4	2	1	rs200971618		TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr8:37697698G>A	ENST00000412232.2	+	17	2584	c.2571G>A	c.(2569-2571)gcG>gcA	p.A857A	GPR124_ENST00000315215.7_Silent_p.A640A	NM_032777.9	NP_116166.9	Q96PE1	GP124_HUMAN	G protein-coupled receptor 124	857					central nervous system development (GO:0007417)|endothelial cell migration (GO:0043542)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of vascular endothelial growth factor signaling pathway (GO:1900747)|neuropeptide signaling pathway (GO:0007218)|positive regulation of endothelial cell migration (GO:0010595)|regulation of angiogenesis (GO:0045765)|regulation of chemotaxis (GO:0050920)|regulation of establishment of blood-brain barrier (GO:0090210)|sprouting angiogenesis (GO:0002040)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(16)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	37			BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)			GCGTGAAGGCGCGAGTGCTCC	0.632																																						ENST00000315215.7																			0				central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(16)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	37						c.(1918-1920)gcG>gcA		G protein-coupled receptor 124							67	57	61					8																	37697698		2203	4300	6503	SO:0001819	synonymous_variant	25960				central nervous system development|endothelial cell migration|neuropeptide signaling pathway|regulation of angiogenesis|regulation of chemotaxis|sprouting angiogenesis	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr8:37697698G>A	AB040964	CCDS6097.2	8p11.22	2014-08-08			ENSG00000020181	ENSG00000020181		"-", "GPCR / Class B : Orphans", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	17849	protein-coding gene	gene with protein product	"tumor endothelial marker 5"	606823				11559528, 12565841	Standard	NM_032777		Approved	TEM5, DKFZp434C211, DKFZp434J0911, KIAA1531, FLJ14390	uc003xkj.3	Q96PE1	OTTHUMG00000156182	ENST00000412232.2:c.2571G>A	8.37:g.37697698G>A						GPR124_ENST00000412232.2_Silent_p.A857A	p.A640A			Q96PE1	GP124_HUMAN	BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)		14	2283	+			857					A6H8W3|D3DSW4|Q8N3R1|Q8TEM3|Q96KB2|Q9P1Z7|Q9UFY4	Silent	SNP	ENST00000412232.2	37	c.1920G>A	CCDS6097.2																																																																																				0.632	GPR124-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343331.2			14	32	0	0	0	1	0	14	32					A	37697698	G	A	37697698	2	1	94	1	0	0	0	0	0	0	0	1	6638	1074	38	1		1	GPR124	8	37697698	Silent	SNP	G	TCGA-EJ-7782-01A-11D-2114-08	2272076	37697698	108666324	211	5030											
PLAT	5327	broad.mit.edu	37	chr8	42046568	42046568	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gttgctggtatatcatctgcGttttttcatctctgcagatc	6	18	8	9	1	4	1	2	0	2	1	6	1	4	1	0	1	3	5	0	1	2	6	rs375926300		TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr8:42046568G>A	ENST00000220809.4	-	4	393	c.137C>T	c.(136-138)aCg>aTg	p.T46M	PLAT_ENST00000524009.1_Missense_Mutation_p.T46M|PLAT_ENST00000352041.3_Intron|PLAT_ENST00000429710.2_Missense_Mutation_p.T46M|PLAT_ENST00000519510.1_Missense_Mutation_p.T46M|PLAT_ENST00000429089.2_Missense_Mutation_p.T46M|PLAT_ENST00000270189.6_Missense_Mutation_p.T46M	NM_000930.3	NP_000921.1	P00750	TPA_HUMAN	plasminogen activator, tissue	46	Fibronectin type-I. {ECO:0000255|PROSITE- ProRule:PRU00478}.|Important for binding to annexin A2.				blood coagulation (GO:0007596)|cellular protein modification process (GO:0006464)|fibrinolysis (GO:0042730)|negative regulation of proteolysis (GO:0045861)|plasminogen activation (GO:0031639)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of ovulation (GO:0060279)|proteolysis (GO:0006508)|regulation of synaptic plasticity (GO:0048167)|response to cAMP (GO:0051591)|response to glucocorticoid (GO:0051384)|response to hypoxia (GO:0001666)|response to peptide hormone (GO:0043434)|smooth muscle cell migration (GO:0014909)|synaptic transmission, glutamatergic (GO:0035249)	apical part of cell (GO:0045177)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|secretory granule (GO:0030141)|synapse (GO:0045202)	serine-type endopeptidase activity (GO:0004252)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(10)|skin(1)|soft_tissue(1)|urinary_tract(1)	27	all_cancers(6;3.84e-26)|all_epithelial(6;9.61e-28)|all_lung(13;7.2e-13)|Lung NSC(13;1.18e-11)|Ovarian(28;0.00438)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211)	all_lung(54;0.000378)|Lung NSC(58;0.00145)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	BRCA - Breast invasive adenocarcinoma(8;5.23e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00135)|Colorectal(10;0.00165)|Lung(22;0.00467)|COAD - Colon adenocarcinoma(11;0.0171)|LUSC - Lung squamous cell carcinoma(45;0.024)		Aminocaproic Acid(DB00513)|Ibuprofen(DB01050)|Iloprost(DB01088)|Urokinase(DB00013)	TATCATCTGCGTTTTTTCATC	0.493																																						ENST00000220809.4																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(10)|skin(1)|soft_tissue(1)|urinary_tract(1)	27						c.(136-138)aCg>aTg		plasminogen activator, tissue	Alteplase(DB00009)|Aminocaproic Acid(DB00513)|Anistreplase(DB00029)|Iloprost(DB01088)|Reteplase(DB00015)|Tenecteplase(DB00031)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	G	MET/THR,	0,4406		0,0,2203	151	146	148		137,	4.5	0	8		148	1,8599	1.2+/-3.3	0,1,4299	no	missense,intron	PLAT	NM_000930.3,NM_033011.2	81,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,	46/563,	42046568	1,13005	2203	4300	6503	SO:0001583	missense	5327				blood coagulation|fibrinolysis|negative regulation of proteolysis|protein modification process|proteolysis	cell surface|cytoplasm|extracellular space	protein binding|serine-type endopeptidase activity	g.chr8:42046568G>A		CCDS6126.1, CCDS6127.1	8p11.21	2012-10-02			ENSG00000104368	ENSG00000104368			9051	protein-coding gene	gene with protein product		173370					Standard	NM_033011		Approved		uc003xos.2	P00750	OTTHUMG00000164072	ENST00000220809.4:c.137C>T	8.37:g.42046568G>A	ENSP00000220809:p.Thr46Met					PLAT_ENST00000524009.1_Missense_Mutation_p.T46M|PLAT_ENST00000352041.3_Intron|PLAT_ENST00000519510.1_Missense_Mutation_p.T46M|PLAT_ENST00000270189.6_Missense_Mutation_p.T46M|PLAT_ENST00000429089.2_Missense_Mutation_p.T46M|PLAT_ENST00000429710.2_Missense_Mutation_p.T46M	p.T46M	NM_000930.3	NP_000921.1	P00750	TPA_HUMAN	BRCA - Breast invasive adenocarcinoma(8;5.23e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00135)|Colorectal(10;0.00165)|Lung(22;0.00467)|COAD - Colon adenocarcinoma(11;0.0171)|LUSC - Lung squamous cell carcinoma(45;0.024)		4	393	-	all_cancers(6;3.84e-26)|all_epithelial(6;9.61e-28)|all_lung(13;7.2e-13)|Lung NSC(13;1.18e-11)|Ovarian(28;0.00438)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211)	all_lung(54;0.000378)|Lung NSC(58;0.00145)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	46			Fibronectin type-I.|Important for binding to annexin A2.		A8K022|B2R8E8|Q15103|Q503B0|Q6PJA5|Q7Z7N2|Q86YK8|Q9BU99|Q9BZW1	Missense_Mutation	SNP	ENST00000220809.4	37	c.137C>T	CCDS6126.1	.	.	.	.	.	.	.	.	.	.	G	13.09	2.133043	0.37630	0.0	1.16E-4	ENSG00000104368	ENST00000270189;ENST00000429089;ENST00000220809;ENST00000519510;ENST00000429710;ENST00000524009;ENST00000520523;ENST00000521694	T;T;T;T;T;T;T;T	0.56776	0.44;0.44;0.44;0.44;0.44;0.44;0.44;0.44	5.35	4.47	0.54385	Fibronectin, type I (4);Complement control module (1);	0.119220	0.56097	D	0.000027	T	0.72145	0.3424	M	0.80616	2.505	0.27420	N	0.954306	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.998;0.999;0.998;0.994	T	0.67979	-0.5530	10	0.72032	D	0.01	.	12.2973	0.54854	0.0789:0.0:0.9211:0.0	.	46;46;46;46	B4DNJ1;B4DN26;B4DV92;P00750	.;.;.;TPA_HUMAN	M	46	ENSP00000270189:T46M;ENSP00000392045:T46M;ENSP00000220809:T46M;ENSP00000428886:T46M;ENSP00000407861:T46M;ENSP00000429401:T46M;ENSP00000428797:T46M;ENSP00000429801:T46M	ENSP00000220809:T46M	T	-	2	0	PLAT	42165725	0.998000	0.40836	0.016000	0.15963	0.097000	0.18754	4.002000	0.57053	1.256000	0.44068	0.650000	0.86243	ACG		0.493	PLAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377100.1	NM_000930		7	130	0	0	0	1	0	7	130					A	42046568	G	A	42046568	3	1	94	1	0	0	0	0	1	0	0	0	12021	1145	40	1	1595	1	PLAT	8	42046568	Missense_Mutation	SNP	G	TCGA-EJ-7782-01A-11D-2114-08	4348870	42046568	104317454	212	5031											
POTEA	340441	broad.mit.edu	37	chr8	43147834	43147834	+	RNA	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	cgagaagatctgggcaagctCcacagagctgcctggtgggg	9	6	16	10	1	1	3	0	0	1	3	2	4	2	3	2	4	3	3	2	4	2	0	rs369755127		TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr8:43147834C>G	ENST00000522175.2	+	0	209							Q6S8J7	POTEA_HUMAN	POTE ankyrin domain family, member A											breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(27)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						TGGGCAAGCTCCACAGAGCTG	0.582																																						ENST00000522175.2																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(27)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46								POTE ankyrin domain family, member A							54	59	58					8																	43147834		2203	4300	6503			340441							g.chr8:43147834C>G	AY462869		8p11.1	2013-01-11	2008-11-26	2008-11-26	ENSG00000188877	ENSG00000188877		"POTE ankyrin domain containing", "Ankyrin repeat domain containing"	33893	protein-coding gene	gene with protein product	"cancer/testis antigen family 104, member 3"	608915	"ANKRD26-like family A, member 1"	A26A1			Standard	NM_001002920		Approved	POTE8, POTE-8, CT104.3	uc003xpz.1	Q6S8J7	OTTHUMG00000164111		8.37:g.43147834C>G										Q6S8J7	POTEA_HUMAN			0	209	+								A6ND17|A6ND71|Q6S8J6	RNA	SNP	ENST00000522175.2	37																																																																																						0.582	POTEA-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000383492.1	NM_001002920		17	40	0	0	0	1	0	17	40					G	43147834	C	G	43147834	1	3	94	0	1	0	0	0	0	0	0	0	12261	842	30	5		5	POTEA	8	43147834	RNA	SNP	C	TCGA-EJ-7782-01A-11D-2114-08	1101266	43147834	103216188	213	5032											
KIAA0146	23514	broad.mit.edu	37	chr8	48625401	48625401	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgctggggctgcccctcacAgcctcttcttcaaggacgct	5	10	10	16	2	4	0	2	0	2	0	5	1	4	1	3	3	2	3	3	3	1	2	rs566690509		TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr8:48625401A>C	ENST00000297423.4	+	15	2539	c.2155A>C	c.(2155-2157)Agc>Cgc	p.S719R	SPIDR_ENST00000518074.1_Missense_Mutation_p.S659R|SPIDR_ENST00000521214.1_3'UTR|SPIDR_ENST00000541342.1_Missense_Mutation_p.S649R|SPIDR_ENST00000517693.1_Missense_Mutation_p.S194R	NM_001080394.2|NM_001282916.1	NP_001073863.1|NP_001269845.1	Q14159	SPIDR_HUMAN	scaffolding protein involved in DNA repair	719					cellular response to camptothecin (GO:0072757)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to hydroxyurea (GO:0072711)|cellular response to ionizing radiation (GO:0071479)|double-strand break repair via homologous recombination (GO:0000724)|positive regulation of double-strand break repair (GO:2000781)|positive regulation of protein complex assembly (GO:0031334)|regulation of double-strand break repair via homologous recombination (GO:0010569)|regulation of establishment of protein localization to chromosome (GO:0070202)	nuclear chromosome (GO:0000228)											TGCCCCTCACAGCCTCTTCTT	0.607													A|||	1	0.000199681	8e-04	0	5008	,	,		15432	0		0	False		,,,				2504	0					ENST00000297423.4																			0											c.(2155-2157)Agc>Cgc		scaffolding protein involved in DNA repair							77	87	84					8																	48625401		2139	4233	6372	SO:0001583	missense	23514							g.chr8:48625401A>C	AK055680	CCDS43737.1, CCDS64890.1, CCDS64891.1	8q11.21	2013-07-02	2013-07-02	2013-07-02	ENSG00000164808	ENSG00000164808			28971	protein-coding gene	gene with protein product		615384	"KIAA0146"	KIAA0146		8590280, 23509288	Standard	XM_005251189		Approved		uc003xqd.3	Q14159	OTTHUMG00000164176	ENST00000297423.4:c.2155A>C	8.37:g.48625401A>C	ENSP00000297423:p.Ser719Arg					SPIDR_ENST00000521214.1_3'UTR|SPIDR_ENST00000517693.1_Missense_Mutation_p.S194R|SPIDR_ENST00000541342.1_Missense_Mutation_p.S649R|SPIDR_ENST00000518074.1_Missense_Mutation_p.S659R	p.S719R	NM_001080394.2	NP_001073863.1					15	2539	+								B4DFV2|B4E0Y6|Q96BI5	Missense_Mutation	SNP	ENST00000297423.4	37	c.2155A>C	CCDS43737.1	.	.	.	.	.	.	.	.	.	.	A	10.11	1.260897	0.23051	.	.	ENSG00000164808	ENST00000297423;ENST00000518074;ENST00000541342;ENST00000519141;ENST00000517693;ENST00000519362;ENST00000522321;ENST00000518692;ENST00000521056	.	.	.	5.52	0.0227	0.14134	.	0.921050	0.09579	N	0.783139	T	0.18551	0.0445	L	0.34521	1.04	0.09310	N	1	P;P;P;P;P;P;P	0.47302	0.589;0.646;0.893;0.589;0.589;0.589;0.589	B;B;B;B;B;B;B	0.42738	0.145;0.191;0.396;0.188;0.272;0.145;0.188	T	0.12091	-1.0561	9	0.27082	T	0.32	.	0.1568	0.00099	0.2782:0.2528:0.2197:0.2492	.	209;224;659;649;719;194;719	B4DZY2;B4DWT8;B4E0Y6;B4DFV2;B4DEV5;B3KP42;Q14159	.;.;.;.;.;.;K0146_HUMAN	R	719;659;649;224;194;194;80;80;80	.	ENSP00000297423:S719R	S	+	1	0	KIAA0146	48787954	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.101000	0.15251	0.337000	0.23665	-0.408000	0.06270	AGC		0.607	SPIDR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000377611.1	NM_001080394		17	46	0	0	0	1	0	17	46					C	48625401	A	C	48625401	3	2	94	1	0	0	0	0	1	0	0	0	8157	188	7	5	2213	5	KIAA0146	8	48625401	Missense_Mutation	SNP	A	TCGA-EJ-7782-01A-11D-2114-08	5477567	48625401	97738621	214	5033											
VCPIP1	80124	broad.mit.edu	37	chr8	67577666	67577666	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aaccaaattgttcaagggaaAgctgtaatttttgtcagtcc	13	13	8	7	0	2	0	2	0	0	0	3	1	3	1	2	1	2	3	2	1	5	5			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr8:67577666A>G	ENST00000310421.4	-	1	1786	c.1528T>C	c.(1528-1530)Ttt>Ctt	p.F510L	C8orf44_ENST00000521889.1_5'Flank|C8orf44_ENST00000519561.1_5'Flank|C8orf44-SGK3_ENST00000519289.1_5'Flank	NM_025054.4	NP_079330.2	Q96JH7	VCIP1_HUMAN	valosin containing protein (p97)/p47 complex interacting protein 1	510					endoplasmic reticulum membrane fusion (GO:0016320)|Golgi reassembly (GO:0090168)|mitotic nuclear division (GO:0007067)|protein K11-linked deubiquitination (GO:0035871)|protein K48-linked deubiquitination (GO:0071108)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)	ubiquitin-specific protease activity (GO:0004843)			breast(7)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(6)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		Lung NSC(129;0.142)|all_lung(136;0.227)	Epithelial(68;0.000771)|OV - Ovarian serous cystadenocarcinoma(28;0.00248)|all cancers(69;0.00296)|BRCA - Breast invasive adenocarcinoma(89;0.149)			TTCAAGGGAAAGCTGTAATTT	0.423																																					NSCLC(179;265 2915 6144 43644)	ENST00000310421.4																			0				breast(7)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(6)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						c.(1528-1530)Ttt>Ctt		valosin containing protein (p97)/p47 complex interacting protein 1							166	175	172					8																	67577666		2203	4300	6503	SO:0001583	missense	80124				protein ubiquitination	endoplasmic reticulum|Golgi stack	ubiquitin-specific protease activity	g.chr8:67577666A>G	AB058753	CCDS6192.1	8q13	2014-02-24			ENSG00000175073	ENSG00000175073		"OTU domain containing"	30897	protein-coding gene	gene with protein product		611745				11347906, 12509440	Standard	NM_025054		Approved	VCIP135, KIAA1850, FLJ23132, DUBA3	uc003xwn.3	Q96JH7	OTTHUMG00000164560	ENST00000310421.4:c.1528T>C	8.37:g.67577666A>G	ENSP00000309031:p.Phe510Leu						p.F510L	NM_025054.4	NP_079330.2	Q96JH7	VCIP1_HUMAN	Epithelial(68;0.000771)|OV - Ovarian serous cystadenocarcinoma(28;0.00248)|all cancers(69;0.00296)|BRCA - Breast invasive adenocarcinoma(89;0.149)		1	1786	-		Lung NSC(129;0.142)|all_lung(136;0.227)	510					Q504T4|Q86T93|Q86W01|Q8N3A9|Q9H5R8	Missense_Mutation	SNP	ENST00000310421.4	37	c.1528T>C	CCDS6192.1	.	.	.	.	.	.	.	.	.	.	A	13.51	2.258339	0.39896	.	.	ENSG00000175073	ENST00000310421	T	0.38722	1.12	5.29	5.29	0.74685	.	0.000000	0.85682	D	0.000000	T	0.54679	0.1873	L	0.43923	1.385	0.80722	D	1	P	0.52842	0.956	D	0.65010	0.931	T	0.51779	-0.8662	10	0.38643	T	0.18	-12.7325	15.2518	0.73552	1.0:0.0:0.0:0.0	.	510	Q96JH7	VCIP1_HUMAN	L	510	ENSP00000309031:F510L	ENSP00000309031:F510L	F	-	1	0	VCPIP1	67740220	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.339000	0.96797	1.991000	0.58162	0.533000	0.62120	TTT		0.423	VCPIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379227.1			65	147	0	0	0	1	0	65	147					G	67577666	A	G	67577666	3	3	94	1	0	0	0	0	1	0	0	0	17138	72	3	4	2152	4	VCPIP1	8	67577666	Missense_Mutation	SNP	A	TCGA-EJ-7782-01A-11D-2114-08	18952265	67577666	78786356	215	5034											
SLCO5A1	81796	broad.mit.edu	37	chr8	70744219	70744219	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cacaggccgtcgttgggggcCgaggcgttcaactcttggat	6	9	15	11	4	2	0	1	0	1	0	3	2	2	1	2	5	1	2	2	5	1	3			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr8:70744219C>T	ENST00000260126.4	-	2	1396	c.690G>A	c.(688-690)tcG>tcA	p.S230S	SLCO5A1_ENST00000524945.1_Silent_p.S230S|SLCO5A1_ENST00000530307.1_Silent_p.S230S|RP11-159H10.3_ENST00000501104.2_RNA|SLCO5A1_ENST00000528658.1_5'UTR|RP11-159H10.3_ENST00000533300.1_RNA|RP11-159H10.3_ENST00000528800.2_RNA	NM_030958.2	NP_112220.2	Q9H2Y9	SO5A1_HUMAN	solute carrier organic anion transporter family, member 5A1	230						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	53	Breast(64;0.0654)		Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)			CGTTGGGGGCCGAGGCGTTCA	0.632																																						ENST00000260126.3																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	53						c.(688-690)tcG>tcA		solute carrier organic anion transporter family, member 5A1							30	36	34					8																	70744219		2203	4300	6503	SO:0001819	synonymous_variant	81796					integral to membrane|plasma membrane	transporter activity	g.chr8:70744219C>T	AF205075	CCDS6205.1, CCDS55242.1, CCDS55243.1	8q13.1	2013-05-22	2003-11-25	2003-11-26	ENSG00000137571	ENSG00000137571		"Solute carriers"	19046	protein-coding gene	gene with protein product		613543	"solute carrier family 21 (organic anion transporter), member 15"	SLC21A15		12507753	Standard	NM_030958		Approved	OATPRP4, OATP-J, OATP5A1	uc003xyl.3	Q9H2Y9	OTTHUMG00000165121	ENST00000260126.4:c.690G>A	8.37:g.70744219C>T						SLCO5A1_ENST00000528658.1_5'UTR|SLCO5A1_ENST00000524945.1_Silent_p.S230S|SLCO5A1_ENST00000530307.1_Silent_p.S230S	p.S230S	NM_030958.2	NP_112220.2	Q9H2Y9	SO5A1_HUMAN	Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)		2	1396	-	Breast(64;0.0654)		230					A4QPC2|B2RPF7|B3KMU7|E9PKK5|G3V1C0	Silent	SNP	ENST00000260126.4	37	c.690G>A	CCDS6205.1																																																																																				0.632	SLCO5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381990.3	NM_030958		15	24	0	0	0	1	0	15	24					T	70744219	C	T	70744219	2	4	94	1	0	0	0	0	0	0	0	1	14731	639	23	2		2	SLCO5A1	8	70744219	Silent	SNP	C	TCGA-EJ-7782-01A-11D-2114-08	3166553	70744219	75619803	216	5035											
RGS22	26166	broad.mit.edu	37	chr8	101014478	101014478	+	Frame_Shift_Del	DEL	T	T	-																															ctgttgggtccaaagaaataTtttttattaaggtatttgtt																										TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr8:101014478delT	ENST00000360863.6	-	18	2936	c.2742delA	c.(2740-2742)aaafs	p.K914fs	RGS22_ENST00000519421.1_5'Flank|RGS22_ENST00000523287.1_Frame_Shift_Del_p.K733fs|SNORD77_ENST00000391112.1_RNA|RGS22_ENST00000523437.1_Frame_Shift_Del_p.K902fs	NM_015668.3	NP_056483.3	Q8NE09	RGS22_HUMAN	regulator of G-protein signaling 22	914	RGS 1. {ECO:0000255|PROSITE- ProRule:PRU00171}.				positive regulation of GTPase activity (GO:0043547)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)		RGS22/SYCP1(2)	breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(33)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	68			Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)			CAAAGAAATATTTTTTATTAA	0.343																																						ENST00000360863.6																		RGS22/SYCP1(2)	0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(33)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	68						c.(2740-2742)aafs		regulator of G-protein signaling 22							80	78	79					8																	101014478		1794	4061	5855	SO:0001589	frameshift_variant	26166				negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity	g.chr8:101014478delT	AY009106	CCDS43758.1, CCDS69521.1, CCDS75775.1	8q22.2	2014-01-21	2007-08-14		ENSG00000132554	ENSG00000132554		"Regulators of G-protein signaling"	24499	protein-coding gene	gene with protein product		615650	"regulator of G-protein signalling 22"				Standard	XM_005250856		Approved	DKFZP434I092, PRTD-NY2, CT145	uc003yjb.1	Q8NE09	OTTHUMG00000164802	ENST00000360863.6:c.2742delA	8.37:g.101014478delT	ENSP00000354109:p.Lys914fs					RGS22_ENST00000523437.1_Frame_Shift_Del_p.K902fs|RGS22_ENST00000523287.1_Frame_Shift_Del_p.K733fs	p.K914fs	NM_015668.3	NP_056483.3	Q8NE09	RGS22_HUMAN	Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)		18	2936	-			914			RGS 1.		A8K944|Q569L2|Q86Y71|Q9BYZ4|Q9UFN6	Frame_Shift_Del	DEL	ENST00000360863.6	37	c.2742delA	CCDS43758.1																																																																																				0.343	RGS22-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000380365.1	NM_015668		20	31						20	31	---	---	---	---	-	101014478	T	-	101014478	7	5	94	1	0	1	0	1	0	0	0	0	13305	1490	52	0	1092	0	RGS22	8	101014478	Frame_Shift_Del	DEL	T	TCGA-EJ-7782-01A-11D-2114-08	30270259	101014478	45349544	217	5036											
TM7SF4	81501	broad.mit.edu	37	chr8	105367308	105367308	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcagcatctttctaccccagCgtggagaggaagcgcatcca	10	8	10	13	2	3	1	1	0	2	1	4	3	4	2	3	2	4	2	3	2	2	2	rs201469150		TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr8:105367308C>T	ENST00000297581.2	+	3	1282	c.1233C>T	c.(1231-1233)agC>agT	p.S411S	DPYS_ENST00000521601.1_Intron|DCSTAMP_ENST00000517991.1_Intron|DCSTAMP_ENST00000520080.1_3'UTR	NM_030788.3	NP_110415.1	Q9H295	DCSTP_HUMAN	dendrocyte expressed seven transmembrane protein	411					cellular response to interleukin-4 (GO:0071353)|cellular response to macrophage colony-stimulating factor stimulus (GO:0036006)|cellular response to tumor necrosis factor (GO:0071356)|membrane fusion (GO:0061025)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of cell growth (GO:0030308)|osteoclast differentiation (GO:0030316)|osteoclast fusion (GO:0072675)|positive regulation of bone resorption (GO:0045780)|positive regulation of macrophage fusion (GO:0034241)|positive regulation of monocyte differentiation (GO:0045657)	cell surface (GO:0009986)|endoplasmic reticulum membrane (GO:0005789)|endosome membrane (GO:0010008)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)		p.S411R(1)									TCTACCCCAGCGTGGAGAGGA	0.438													C|||	1	0.000199681	0	0	5008	,	,		19862	0		0.001	False		,,,				2504	0					ENST00000297581.2																			1	Substitution - Missense(1)	p.S411R(1)	lung(1)								c.(1231-1233)agC>agT		dendrocyte expressed seven transmembrane protein							130	129	130					8																	105367308		2203	4300	6503	SO:0001819	synonymous_variant	81501				osteoclast differentiation	cell surface|integral to membrane|plasma membrane		g.chr8:105367308C>T	AF305068	CCDS6301.1, CCDS59111.1	8q22.3	2012-08-10	2012-03-27	2012-03-27	ENSG00000164935	ENSG00000164935			18549	protein-coding gene	gene with protein product	"Dendritic cells (DC)-specific transmembrane protein", "IL-Four INDuced"	605933	"transmembrane 7 superfamily member 4"	TM7SF4		11169400, 11345591	Standard	NM_030788		Approved	DC-STAMP, FIND	uc003ylx.2	Q9H295	OTTHUMG00000164890	ENST00000297581.2:c.1233C>T	8.37:g.105367308C>T						DCSTAMP_ENST00000520080.1_3'UTR|DPYS_ENST00000521601.1_Intron|DCSTAMP_ENST00000517991.1_Intron	p.S411S	NM_030788.3	NP_110415.1	Q9H295	TM7S4_HUMAN			3	1282	+			411					B7ZVW2|E7ESG0|Q2M2D5	Silent	SNP	ENST00000297581.2	37	c.1233C>T	CCDS6301.1																																																																																				0.438	DCSTAMP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380810.1	NM_030788		27	44	0	0	0	1	0	27	44					T	105367308	C	T	105367308	2	4	94	1	0	0	0	0	0	0	0	1	15973	767	27	1		1	TM7SF4	8	105367308	Silent	SNP	C	TCGA-EJ-7782-01A-11D-2114-08	4352830	105367308	40996714	218	5037											
PKHD1L1	93035	broad.mit.edu	37	chr8	110412530	110412530	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctacatcaagggtgatgaccGttatgctatttattttagcc	10	15	8	8	1	1	2	1	2	0	0	1	2	1	2	2	1	3	2	2	1	6	7	rs202180175		TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr8:110412530G>A	ENST00000378402.5	+	13	1342	c.1238G>A	c.(1237-1239)cGt>cAt	p.R413H		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	413					immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			GGTGATGACCGTTATGCTATT	0.368										HNSCC(38;0.096)			G|||	1	0.000199681	0	0	5008	,	,		15914	0		0.001	False		,,,				2504	0					ENST00000378402.5																			0				NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263						c.(1237-1239)cGt>cAt		polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1		G	HIS/ARG	1,3703		0,1,1851	187	176	180		1238	3.6	1	8		180	12,8170		0,12,4079	yes	missense	PKHD1L1	NM_177531.4	29	0,13,5930	AA,AG,GG		0.1467,0.027,0.1094	probably-damaging	413/4244	110412530	13,11873	1852	4091	5943	SO:0001583	missense	93035				immune response	cytosol|extracellular space|integral to membrane	receptor activity	g.chr8:110412530G>A	AY219181	CCDS47911.1	8q23	2003-03-28			ENSG00000205038	ENSG00000205038			20313	protein-coding gene	gene with protein product		607843				12620974	Standard	NM_177531		Approved		uc003yne.3	Q86WI1	OTTHUMG00000164934	ENST00000378402.5:c.1238G>A	8.37:g.110412530G>A	ENSP00000367655:p.Arg413His	HNSCC(38;0.096)					p.R413H	NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)		13	1342	+			413					Q567P2|Q9UF27	Missense_Mutation	SNP	ENST00000378402.5	37	c.1238G>A	CCDS47911.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	19.68	3.871981	0.72180	2.7E-4	0.001467	ENSG00000205038	ENST00000378402	T	0.76448	-1.02	5.42	3.63	0.41609	PA14 (1);	0.162251	0.41605	N	0.000845	T	0.72692	0.3492	L	0.39020	1.185	0.32838	D	0.504912	D	0.55385	0.971	P	0.50405	0.64	T	0.77381	-0.2609	10	0.62326	D	0.03	.	7.4721	0.27355	0.2644:0.0:0.7356:0.0	.	413	Q86WI1	PKHL1_HUMAN	H	413	ENSP00000367655:R413H	ENSP00000367655:R413H	R	+	2	0	PKHD1L1	110481706	1.000000	0.71417	1.000000	0.80357	0.928000	0.56348	3.601000	0.54059	0.661000	0.30985	-0.253000	0.11424	CGT		0.368	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381017.1	NM_177531		6	82	0	0	0	1	0	6	82					A	110412530	G	A	110412530	3	1	94	1	0	0	0	0	1	0	0	0	11972	1145	40	1	1288	1	PKHD1L1	8	110412530	Missense_Mutation	SNP	G	TCGA-EJ-7782-01A-11D-2114-08	5045222	110412530	35951492	219	5038											
FAM135B	51059	broad.mit.edu	37	chr8	139164500	139164500	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	agaagcctggatgccgcttgGcaaacttgtgttactttctg	8	13	11	9	1	1	1	0	0	1	1	1	2	1	2	2	2	4	3	2	2	3	4			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr8:139164500G>A	ENST00000395297.1	-	13	2388	c.2218C>T	c.(2218-2220)Cca>Tca	p.P740S		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	740										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			ATGCCGCTTGGCAAACTTGTG	0.522										HNSCC(54;0.14)																												ENST00000395297.1																			0				NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238						c.(2218-2220)Cca>Tca		family with sequence similarity 135, member B							40	42	41					8																	139164500		2099	4240	6339	SO:0001583	missense	51059							g.chr8:139164500G>A	AB196635	CCDS6375.2	8q24.23	2008-11-05			ENSG00000147724	ENSG00000147724			28029	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_015912		Approved	C8ORFK32	uc003yuy.3	Q49AJ0	OTTHUMG00000149864	ENST00000395297.1:c.2218C>T	8.37:g.139164500G>A	ENSP00000378710:p.Pro740Ser	HNSCC(54;0.14)					p.P740S	NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0805)		13	2388	-	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		740					B5MDB3|O95879|Q2WGJ7|Q3KP46	Missense_Mutation	SNP	ENST00000395297.1	37	c.2218C>T	CCDS6375.2	.	.	.	.	.	.	.	.	.	.	G	20.1	3.938244	0.73557	.	.	ENSG00000147724	ENST00000395297	T	0.17054	2.3	5.65	5.65	0.86999	.	0.134887	0.49305	D	0.000150	T	0.44850	0.1313	M	0.74258	2.255	0.52501	D	0.99995	D;D;D	0.89917	1.0;0.999;0.991	D;D;P	0.97110	1.0;0.981;0.813	T	0.21655	-1.0239	10	0.48119	T	0.1	-9.2901	18.7244	0.91708	0.0:0.0:1.0:0.0	.	740;740;740	Q49AJ0-3;Q49AJ0-4;Q49AJ0	.;.;F135B_HUMAN	S	740	ENSP00000378710:P740S	ENSP00000276737:P740S	P	-	1	0	FAM135B	139233682	1.000000	0.71417	0.971000	0.41717	0.608000	0.37181	7.450000	0.80656	2.678000	0.91216	0.655000	0.94253	CCA		0.522	FAM135B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313590.3	NM_015912		11	31	0	0	0	1	0	11	31					A	139164500	G	A	139164500	3	1	94	1	0	0	0	0	1	0	0	0	5449	1203	42	3	2034	3	FAM135B	8	139164500	Missense_Mutation	SNP	G	TCGA-EJ-7782-01A-11D-2114-08	28751970	139164500	7199522	220	5039											
TOP1MT	116447	broad.mit.edu	37	chr8	144406194	144406194	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgatgaaatacagggccaccGcccgctgtctcgtcttcatt	8	10	9	14	4	3	1	1	1	2	0	4	2	3	1	3	1	1	1	3	1	2	3			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr8:144406194G>T	ENST00000329245.4	-	7	969	c.935C>A	c.(934-936)gCg>gAg	p.A312E	TOP1MT_ENST00000521193.1_Missense_Mutation_p.A214E|TOP1MT_ENST00000519148.1_Missense_Mutation_p.A214E|TOP1MT_ENST00000523676.1_Missense_Mutation_p.A214E	NM_052963.2	NP_443195.1	Q969P6	TOP1M_HUMAN	topoisomerase (DNA) I, mitochondrial	312					DNA replication (GO:0006260)|DNA topological change (GO:0006265)	chromosome (GO:0005694)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA topoisomerase type I activity (GO:0003917)|DNA topoisomerase type II (ATP-hydrolyzing) activity (GO:0003918)			endometrium(5)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	23	all_cancers(97;1.01e-10)|all_epithelial(106;4.86e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173)		Irinotecan(DB00762)|Topotecan(DB01030)	CAGGGCCACCGCCCGCTGTCT	0.582																																						ENST00000523676.1																			0				endometrium(5)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	23						c.(640-642)gCg>gAg		topoisomerase (DNA) I, mitochondrial	Irinotecan(DB00762)|Topotecan(DB01030)						93	101	98					8																	144406194		2203	4300	6503	SO:0001583	missense	116447				DNA topological change	chromosome|mitochondrial nucleoid	ATP binding|chromatin DNA binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA topoisomerase type I activity	g.chr8:144406194G>T	AF349018	CCDS6400.1, CCDS59115.1	8q24.3	2006-04-12				ENSG00000184428			29787	protein-coding gene	gene with protein product		606387				11526219	Standard	NM_052963		Approved		uc003yxz.4	Q969P6		ENST00000329245.4:c.935C>A	8.37:g.144406194G>T	ENSP00000328835:p.Ala312Glu					TOP1MT_ENST00000521193.1_Missense_Mutation_p.A214E|TOP1MT_ENST00000329245.4_Missense_Mutation_p.A312E|TOP1MT_ENST00000519148.1_Missense_Mutation_p.A214E	p.A214E			Q969P6	TOP1M_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173)		8	1046	-	all_cancers(97;1.01e-10)|all_epithelial(106;4.86e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		312					B7ZAR5|E7ES89|Q86ST4|Q86V82	Missense_Mutation	SNP	ENST00000329245.4	37	c.641C>A	CCDS6400.1	.	.	.	.	.	.	.	.	.	.	G	18.18	3.566238	0.65651	.	.	ENSG00000184428	ENST00000329245;ENST00000521193;ENST00000519148;ENST00000523676;ENST00000522041	T;T;T;T;T	0.67171	-0.25;-0.25;-0.25;-0.25;-0.25	3.67	0.491	0.16867	DNA breaking-rejoining enzyme, catalytic core (1);DNA topoisomerase I, C-terminal, eukaryotic-type (1);DNA topoisomerase I, catalytic core, eukaryotic-type (1);DNA topoisomerase I, C-terminal (1);DNA topoisomerase I, catalytic core, alpha-helical subdomain, eukaryotic-type (1);	0.000000	0.42964	U	0.000625	D	0.84817	0.5556	H	0.97103	3.94	0.29506	N	0.854557	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.79652	-0.1714	10	0.87932	D	0	-4.1936	8.7369	0.34534	0.0:0.3074:0.5341:0.1585	.	107;312	E7ESI1;Q969P6	.;TOP1M_HUMAN	E	312;214;214;214;214	ENSP00000328835:A312E;ENSP00000428369:A214E;ENSP00000429169:A214E;ENSP00000429181:A214E;ENSP00000427998:A214E	ENSP00000328835:A312E	A	-	2	0	TOP1MT	144477569	0.994000	0.37717	0.000000	0.03702	0.285000	0.27093	5.047000	0.64232	-0.328000	0.08539	0.411000	0.27672	GCG		0.582	TOP1MT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381247.3	NM_052963		21	46	1	0	1.00905e-13	1	1.0852e-13	21	46					T	144406194	G	T	144406194	3	4	94	1	0	0	0	0	1	0	0	0	16361	1087	38	5	902	5	TOP1MT	8	144406194	Missense_Mutation	SNP	G	TCGA-EJ-7782-01A-11D-2114-08	5241694	144406194	1957828	221	5040											
EPPK1	83481	broad.mit.edu	37	chr8	144940328	144940328	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctcctcgtcgaagtagccgCgccggtaggccacgtccacg	6	7	12	16	7	1	0	0	0	1	0	5	1	2	0	5	2	1	2	5	2	3	2			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr8:144940328C>T	ENST00000525985.1	-	2	7165	c.7094G>A	c.(7093-7095)cGc>cAc	p.R2365H				P58107	EPIPL_HUMAN	epiplakin 1	2365						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GAAGTAGCCGCGCCGGTAGGC	0.692																																						ENST00000525985.1																			0				NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						c.(7093-7095)cGc>cAc		epiplakin 1							222	214	217					8																	144940328		2180	4267	6447	SO:0001583	missense	83481					cytoplasm|cytoskeleton	protein binding|structural molecule activity	g.chr8:144940328C>T	AB051895	CCDS75800.1	8q24.3	2014-09-17				ENSG00000261150			15577	protein-coding gene	gene with protein product	"epidermal autoantigen 450K"	607553				11278896, 15671067	Standard	NM_031308		Approved	EPIPL1	uc003zaa.1	P58107		ENST00000525985.1:c.7094G>A	8.37:g.144940328C>T	ENSP00000436337:p.Arg2365His						p.R2365H			P58107	EPIPL_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		2	7165	-	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		2365					Q76E58|Q9NSU9	Missense_Mutation	SNP	ENST00000525985.1	37	c.7094G>A		.	.	.	.	.	.	.	.	.	.	C	29.0	4.972835	0.92919	.	.	ENSG00000227184	ENST00000525985	T	0.79247	-1.25	4.43	3.55	0.40652	.	.	.	.	.	D	0.89083	0.6614	M	0.92412	3.305	0.39114	D	0.961524	D	0.89917	1.0	D	0.97110	1.0	D	0.89917	0.4056	9	0.45353	T	0.12	.	10.4455	0.44490	0.0:0.9039:0.0:0.0961	.	2365	E9PPU0	.	H	2365	ENSP00000436337:R2365H	ENSP00000436337:R2365H	R	-	2	0	EPPK1	145012316	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	4.732000	0.62029	1.215000	0.43411	0.591000	0.81541	CGC		0.692	EPPK1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000382675.1	NM_031308		12	279	0	0	0	1	0	12	279					T	144940328	C	T	144940328	3	4	94	1	0	0	0	0	1	0	0	0	5190	768	27	1	172	1	EPPK1	8	144940328	Missense_Mutation	SNP	C	TCGA-EJ-7782-01A-11D-2114-08	534134	144940328	1423694	222	5041											
EPPK1	83481	broad.mit.edu	37	chr8	144940628	144940628	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgaagccggtggccgcctgcGcctccagcagcaccagggcc	6	3	14	18	4	0	0	0	0	0	0	1	1	1	0	7	3	4	2	7	3	1	0			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr8:144940628G>A	ENST00000525985.1	-	2	6865	c.6794C>T	c.(6793-6795)gCg>gTg	p.A2265V				P58107	EPIPL_HUMAN	epiplakin 1	2265						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GGCCGCCTGCGCCTCCAGCAG	0.726																																						ENST00000525985.1																			0				NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						c.(6793-6795)gCg>gTg		epiplakin 1							37	37	37					8																	144940628		2147	4244	6391	SO:0001583	missense	83481					cytoplasm|cytoskeleton	protein binding|structural molecule activity	g.chr8:144940628G>A	AB051895	CCDS75800.1	8q24.3	2014-09-17				ENSG00000261150			15577	protein-coding gene	gene with protein product	"epidermal autoantigen 450K"	607553				11278896, 15671067	Standard	NM_031308		Approved	EPIPL1	uc003zaa.1	P58107		ENST00000525985.1:c.6794C>T	8.37:g.144940628G>A	ENSP00000436337:p.Ala2265Val						p.A2265V			P58107	EPIPL_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		2	6865	-	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		2265					Q76E58|Q9NSU9	Missense_Mutation	SNP	ENST00000525985.1	37	c.6794C>T		.	.	.	.	.	.	.	.	.	.	G	25.2	4.609217	0.87258	.	.	ENSG00000227184	ENST00000525985	T	0.77620	-1.11	4.67	4.67	0.58626	.	.	.	.	.	D	0.90242	0.6949	M	0.93150	3.385	0.51012	D	0.999902	D	0.89917	1.0	D	0.97110	1.0	D	0.90633	0.4568	9	0.33940	T	0.23	.	15.1226	0.72457	0.0:0.0:1.0:0.0	.	2265	E9PPU0	.	V	2265	ENSP00000436337:A2265V	ENSP00000436337:A2265V	A	-	2	0	EPPK1	145012616	1.000000	0.71417	0.998000	0.56505	0.999000	0.98932	9.583000	0.98217	2.420000	0.82092	0.591000	0.81541	GCG		0.726	EPPK1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000382675.1	NM_031308		6	86	0	0	0	1	0	6	86					A	144940628	G	A	144940628	3	1	94	1	0	0	0	0	1	0	0	0	5190	1087	38	1	472	1	EPPK1	8	144940628	Missense_Mutation	SNP	G	TCGA-EJ-7782-01A-11D-2114-08	300	144940628	1423394	223	5042											
EPPK1	83481	broad.mit.edu	37	chr8	144941378	144941378	+	Frame_Shift_Del	DEL	C	C	-																															ggtgctgtgggtcgatgacaCcccccgtggccacctgcacc																										TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr8:144941378delC	ENST00000525985.1	-	2	6115	c.6044delG	c.(6043-6045)ggtfs	p.G2015fs				P58107	EPIPL_HUMAN	epiplakin 1	2015						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GTCGATGACACCCCCCGTGGC	0.622																																						ENST00000525985.1																			0				NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						c.(6043-6045)gtfs		epiplakin 1							47	52	50					8																	144941378		2143	4252	6395	SO:0001589	frameshift_variant	83481					cytoplasm|cytoskeleton	protein binding|structural molecule activity	g.chr8:144941378delC	AB051895	CCDS75800.1	8q24.3	2014-09-17				ENSG00000261150			15577	protein-coding gene	gene with protein product	"epidermal autoantigen 450K"	607553				11278896, 15671067	Standard	NM_031308		Approved	EPIPL1	uc003zaa.1	P58107		ENST00000525985.1:c.6044delG	8.37:g.144941378delC	ENSP00000436337:p.Gly2015fs						p.G2015fs			P58107	EPIPL_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		2	6115	-	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		2015					Q76E58|Q9NSU9	Frame_Shift_Del	DEL	ENST00000525985.1	37	c.6044delG																																																																																					0.622	EPPK1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000382675.1	NM_031308		9	22						9	22	---	---	---	---	-	144941378	C	-	144941378	7	5	94	1	0	1	0	1	0	0	0	0	5190	507	18	0	1222	0	EPPK1	8	144941378	Frame_Shift_Del	DEL	C	TCGA-EJ-7782-01A-11D-2114-08	750	144941378	1422644	224	5043											
PPP1R16A	84988	broad.mit.edu	37	chr8	145722826	145722826	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gaggccgctgcccgaaatgaCctggaagaaggtgagtgtgg	10	6	17	8	2	0	3	0	2	0	1	0	6	0	4	3	4	1	1	3	4	3	0			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr8:145722826C>T	ENST00000292539.4	+	2	1166	c.249C>T	c.(247-249)gaC>gaT	p.D83D	CTD-2517M22.14_ENST00000532766.1_RNA|PPP1R16A_ENST00000435887.1_Silent_p.D83D|CTD-2517M14.5_ENST00000569326.1_RNA			Q96I34	PP16A_HUMAN	protein phosphatase 1, regulatory subunit 16A	83						plasma membrane (GO:0005886)				NS(1)|endometrium(1)|kidney(2)|lung(3)|prostate(1)	8	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			CCCGAAATGACCTGGAAGAAG	0.662																																						ENST00000292539.4																			0				NS(1)|endometrium(1)|kidney(2)|lung(3)|prostate(1)	8						c.(247-249)gaC>gaT		protein phosphatase 1, regulatory subunit 16A							46	44	45					8																	145722826		2202	4300	6502	SO:0001819	synonymous_variant	84988					plasma membrane	protein binding	g.chr8:145722826C>T		CCDS6429.1	8q24.3	2013-01-10	2011-10-04		ENSG00000160972	ENSG00000160972		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "Ankyrin repeat domain containing"	14941	protein-coding gene	gene with protein product		609172	"protein phosphatase 1, regulatory (inhibitor) subunit 16A"			11948623	Standard	NM_032902		Approved	MGC14333, MYPT3	uc003zdf.3	Q96I34	OTTHUMG00000165173	ENST00000292539.4:c.249C>T	8.37:g.145722826C>T						PPP1R16A_ENST00000435887.1_Silent_p.D83D|CTD-2517M14.5_ENST00000569326.1_RNA|CTD-2517M22.14_ENST00000532766.1_RNA	p.D83D			Q96I34	PP16A_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)		2	1166	+	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		83					D3DWM5	Silent	SNP	ENST00000292539.4	37	c.249C>T	CCDS6429.1	.	.	.	.	.	.	.	.	.	.	c	6.378	0.437898	0.12104	.	.	ENSG00000255182	ENST00000532766	.	.	.	4.81	2.0	0.26442	.	.	.	.	.	T	0.61060	0.2317	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.62590	-0.6822	5	0.87932	D	0	.	6.4184	0.21730	0.0:0.6326:0.0:0.3674	.	.	.	.	D	149	.	ENSP00000435686:G149D	G	-	2	0	CTD-2517M22.14	145693634	0.129000	0.22400	0.998000	0.56505	0.141000	0.21300	0.131000	0.15870	1.050000	0.40346	-0.355000	0.07637	GGT		0.662	PPP1R16A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382459.1	NM_032902		5	22	0	0	0	1	0	5	22					T	145722826	C	T	145722826	2	4	94	1	0	0	0	0	0	0	0	1	12365	506	18	3		3	PPP1R16A	8	145722826	Silent	SNP	C	TCGA-EJ-7782-01A-11D-2114-08	781448	145722826	641196	225	5044											
PLAA	9373	broad.mit.edu	37	chr9	26925851	26925851	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aaccacaatgtcaccattgtCgagcacacagcagcaccata	15	6	6	14	1	1	0	1	0	0	0	2	1	1	0	3	0	4	3	3	0	3	2	rs138585651	byFrequency	TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr9:26925851C>T	ENST00000397292.3	-	6	1258	c.841G>A	c.(841-843)Gac>Aac	p.D281N	PLAA_ENST00000520884.1_Missense_Mutation_p.D281N	NM_001031689.2	NP_001026859.1	Q9Y263	PLAP_HUMAN	phospholipase A2-activating protein	281					inflammatory response (GO:0006954)|phospholipid metabolic process (GO:0006644)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)	phospholipase A2 activator activity (GO:0016005)			breast(1)|endometrium(7)|kidney(2)|large_intestine(3)|lung(3)|prostate(1)	17		all_neural(3;3.53e-10)|Glioma(3;2.71e-09)		Lung(218;1.32e-05)|LUSC - Lung squamous cell carcinoma(38;0.00011)		TCACCATTGTCGAGCACACAG	0.433													C|||	2	0.000399361	0.0015	0	5008	,	,		18425	0		0	False		,,,				2504	0				Melanoma(175;2670 2735 14091 35526)	ENST00000397292.3																			0				breast(1)|endometrium(7)|kidney(2)|large_intestine(3)|lung(3)|prostate(1)	17						c.(841-843)Gac>Aac		phospholipase A2-activating protein		C	ASN/ASP	10,4396	15.5+/-35.6	0,10,2193	180	146	158		841	4.3	1	9	dbSNP_134	158	0,8600		0,0,4300	yes	missense	PLAA	NM_001031689.2	23	0,10,6493	TT,TC,CC		0.0,0.227,0.0769	benign	281/796	26925851	10,12996	2203	4300	6503	SO:0001583	missense	9373				phospholipid metabolic process|signal transduction		phospholipase A2 activator activity	g.chr9:26925851C>T	AF083395	CCDS35000.1	9p21	2013-01-10			ENSG00000137055	ENSG00000137055		"WD repeat domain containing"	9043	protein-coding gene	gene with protein product	"DOA1 homolog (S. cerevisiae)"	603873				9931468, 10644453	Standard	NM_001031689		Approved	PLAP, PLA2P, FLJ11281, FLJ12699, DOA1	uc003zqd.3	Q9Y263	OTTHUMG00000019708	ENST00000397292.3:c.841G>A	9.37:g.26925851C>T	ENSP00000380460:p.Asp281Asn					PLAA_ENST00000520884.1_Missense_Mutation_p.D281N	p.D281N	NM_001031689.2	NP_001026859.1	Q9Y263	PLAP_HUMAN		Lung(218;1.32e-05)|LUSC - Lung squamous cell carcinoma(38;0.00011)	6	1258	-		all_neural(3;3.53e-10)|Glioma(3;2.71e-09)	281					Q53EU5|Q5VY33|Q9NUL8|Q9NVE9|Q9UF53|Q9Y5L1	Missense_Mutation	SNP	ENST00000397292.3	37	c.841G>A	CCDS35000.1	.	.	.	.	.	.	.	.	.	.	C	12.85	2.061001	0.36373	0.00227	0.0	ENSG00000137055	ENST00000397292;ENST00000520884	T;T	0.17854	2.25;2.25	4.31	4.31	0.51392	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.308196	0.34725	N	0.003725	T	0.12220	0.0297	N	0.16166	0.38	0.37254	D	0.9067	B;B	0.14438	0.0;0.01	B;B	0.04013	0.0;0.001	T	0.10590	-1.0623	10	0.45353	T	0.12	-1.6067	17.1482	0.86771	0.0:1.0:0.0:0.0	.	281;281	E5RIM3;Q9Y263	.;PLAP_HUMAN	N	281	ENSP00000380460:D281N;ENSP00000429372:D281N	ENSP00000380460:D281N	D	-	1	0	PLAA	26915851	1.000000	0.71417	0.997000	0.53966	0.982000	0.71751	3.884000	0.56175	2.117000	0.64856	0.585000	0.79938	GAC		0.433	PLAA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051958.2	NM_001031689		19	77	0	0	0	1	0	19	77					T	26925851	C	T	26925851	3	4	94	1	0	0	0	0	1	0	0	0	12011	884	31	2	1582	2	PLAA	9	26925851	Missense_Mutation	SNP	C	TCGA-EJ-7782-01A-11D-2114-08		26925851	114287580	226	5045											
APBA1	320	broad.mit.edu	37	chr9	72131916	72131916	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcgcgccaggcattccccgcGctcctcttcctcctggccga	3	8	10	20	5	1	0	0	0	1	0	5	1	5	0	7	2	0	2	7	2	0	2			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr9:72131916G>A	ENST00000265381.4	-	2	433	c.211C>T	c.(211-213)Cgc>Tgc	p.R71C		NM_001163.3	NP_001154.2	Q02410	APBA1_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 1	71					axon cargo transport (GO:0008088)|cell adhesion (GO:0007155)|gamma-aminobutyric acid secretion (GO:0014051)|glutamate secretion (GO:0014047)|in utero embryonic development (GO:0001701)|intracellular protein transport (GO:0006886)|locomotory behavior (GO:0007626)|multicellular organism growth (GO:0035264)|nervous system development (GO:0007399)|protein complex assembly (GO:0006461)|regulation of gene expression (GO:0010468)|synaptic transmission (GO:0007268)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|synaptic vesicle (GO:0008021)	beta-amyloid binding (GO:0001540)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			endometrium(4)|kidney(2)|large_intestine(12)|lung(13)|prostate(3)|skin(3)	37						CATTCCCCGCGCTCCTCTTCC	0.731																																						ENST00000265381.4																			0				endometrium(4)|kidney(2)|large_intestine(12)|lung(13)|prostate(3)|skin(3)	37						c.(211-213)Cgc>Tgc		amyloid beta (A4) precursor protein-binding, family A, member 1							10	12	11					9																	72131916		2185	4254	6439	SO:0001583	missense	320				axon cargo transport|cell adhesion|intracellular protein transport|nervous system development|protein complex assembly|synaptic transmission	synaptic vesicle		g.chr9:72131916G>A	AF029106	CCDS6630.1	9q13-q21	2008-07-18	2008-07-18		ENSG00000107282	ENSG00000107282			578	protein-coding gene	gene with protein product		602414		MINT1		7678331, 7719031	Standard	NM_001163		Approved	D9S411E, X11	uc004ahh.2	Q02410	OTTHUMG00000019984	ENST00000265381.4:c.211C>T	9.37:g.72131916G>A	ENSP00000265381:p.Arg71Cys						p.R71C	NM_001163.3	NP_001154.2	Q02410	APBA1_HUMAN			2	433	-			71					O14914|O60570|Q5VYR8	Missense_Mutation	SNP	ENST00000265381.4	37	c.211C>T	CCDS6630.1	.	.	.	.	.	.	.	.	.	.	G	13.41	2.229548	0.39399	.	.	ENSG00000107282	ENST00000265381	T	0.05382	3.45	5.08	4.18	0.49190	.	0.636915	0.15686	N	0.249656	T	0.03783	0.0107	N	0.14661	0.345	0.35388	D	0.790529	P	0.49358	0.923	B	0.33799	0.17	T	0.48670	-0.9015	10	0.56958	D	0.05	.	11.9448	0.52922	0.0:0.1315:0.732:0.1366	.	71	Q02410	APBA1_HUMAN	C	71	ENSP00000265381:R71C	ENSP00000265381:R71C	R	-	1	0	APBA1	71321736	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	4.373000	0.59537	1.139000	0.42245	0.655000	0.94253	CGC		0.731	APBA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052589.2	NM_001163		4	10	0	0	0	1	0	4	10					A	72131916	G	A	72131916	3	1	94	1	0	0	0	0	1	0	0	0	756	1087	38	1	2350	1	APBA1	9	72131916	Missense_Mutation	SNP	G	TCGA-EJ-7782-01A-11D-2114-08	45206065	72131916	69081515	227	5046											
ZNF367	195828	broad.mit.edu	37	chr9	99150564	99150564	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aggttggcaagctctatgagCgcgagggctccatgcaggcg	8	7	16	10	3	1	1	0	1	1	0	2	2	2	1	1	4	3	5	1	4	2	2			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr9:99150564C>T	ENST00000375256.4	-	5	1304	c.1008G>A	c.(1006-1008)gcG>gcA	p.A336A		NM_153695.3	NP_710162.1	Q7RTV3	ZN367_HUMAN	zinc finger protein 367	336					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(1)|endometrium(4)|large_intestine(3)|lung(3)|prostate(1)	12		Acute lymphoblastic leukemia(62;0.0167)				GCTCTATGAGCGCGAGGGCTC	0.577																																						ENST00000375256.4																			0				cervix(1)|endometrium(4)|large_intestine(3)|lung(3)|prostate(1)	12						c.(1006-1008)gcG>gcA		zinc finger protein 367							40	43	42					9																	99150564		2203	4300	6503	SO:0001819	synonymous_variant	195828				regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr9:99150564C>T	AK091289	CCDS6718.1	9q22	2008-05-02			ENSG00000165244	ENSG00000165244		"Zinc fingers, C2H2-type"	18320	protein-coding gene	gene with protein product		610160					Standard	NM_153695		Approved	FLJ33970	uc004awf.3	Q7RTV3	OTTHUMG00000020295	ENST00000375256.4:c.1008G>A	9.37:g.99150564C>T							p.A336A	NM_153695.3	NP_710162.1	Q7RTV3	ZN367_HUMAN			5	1304	-		Acute lymphoblastic leukemia(62;0.0167)	336					Q6Q7C8	Silent	SNP	ENST00000375256.4	37	c.1008G>A	CCDS6718.1																																																																																				0.577	ZNF367-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053266.1			4	36	0	0	0	1	0	4	36					T	99150564	C	T	99150564	2	4	94	1	0	0	0	0	0	0	0	1	17868	755	27	1		1	ZNF367	9	99150564	Silent	SNP	C	TCGA-EJ-7782-01A-11D-2114-08	27018648	99150564	42062867	228	5047											
ABCA1	19	broad.mit.edu	37	chr9	107555161	107555167	+	Frame_Shift_Del	DEL	AGAGGAG	AGAGGAG	-																															catcttcatcttcatcattcAgaggagatagctttgcattt																										TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr9:107555161_107555167delAGAGGAG	ENST00000374736.3	-	42	6051_6057	c.5657_5663delCTCCTCT	c.(5656-5664)tctcctctgfs	p.SPL1886fs		NM_005502.3	NP_005493.2	O95477	ABCA1_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 1	1886					apolipoprotein A-I-mediated signaling pathway (GO:0038027)|cellular lipid metabolic process (GO:0044255)|cellular response to cholesterol (GO:0071397)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to retinoic acid (GO:0071300)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|endosomal transport (GO:0016197)|G-protein coupled receptor signaling pathway (GO:0007186)|high-density lipoprotein particle assembly (GO:0034380)|interleukin-1 beta secretion (GO:0050702)|intracellular cholesterol transport (GO:0032367)|lipoprotein metabolic process (GO:0042157)|lysosome organization (GO:0007040)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|peptide secretion (GO:0002790)|phagocytosis, engulfment (GO:0006911)|phospholipid efflux (GO:0033700)|phospholipid homeostasis (GO:0055091)|phospholipid translocation (GO:0045332)|platelet dense granule organization (GO:0060155)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cholesterol efflux (GO:0010875)|protein lipidation (GO:0006497)|regulation of Cdc42 protein signal transduction (GO:0032489)|response to drug (GO:0042493)|response to laminar fluid shear stress (GO:0034616)|response to low-density lipoprotein particle (GO:0055098)|response to nutrient (GO:0007584)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)	endocytic vesicle (GO:0030139)|external side of plasma membrane (GO:0009897)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)	anion transmembrane transporter activity (GO:0008509)|apolipoprotein A-I binding (GO:0034186)|apolipoprotein A-I receptor activity (GO:0034188)|apolipoprotein binding (GO:0034185)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase binding (GO:0051117)|cholesterol binding (GO:0015485)|cholesterol transporter activity (GO:0017127)|phospholipid binding (GO:0005543)|phospholipid transporter activity (GO:0005548)|receptor binding (GO:0005102)|small GTPase binding (GO:0031267)|syntaxin binding (GO:0019905)			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	115				OV - Ovarian serous cystadenocarcinoma(323;0.023)	Adenosine triphosphate(DB00171)|Glyburide(DB01016)|Probucol(DB01599)	TTCATCATTCAGAGGAGATAGCTTTGC	0.386																																						ENST00000374736.3																			0				NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	115						c.(5656-5664)tgfs		ATP-binding cassette, sub-family A (ABC1), member 1	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)																																			SO:0001589	frameshift_variant	19				Cdc42 protein signal transduction|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport	integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle	anion transmembrane transporter activity|apolipoprotein A-I receptor activity|ATP binding|ATPase activity|cholesterol transporter activity|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding	g.chr9:107555161_107555167delAGAGGAG	AJ012376	CCDS6762.1	9q31	2014-03-14			ENSG00000165029	ENSG00000165029		"ATP binding cassette transporters / subfamily A"	29	protein-coding gene	gene with protein product	"Tangier disease"	600046		ABC1, HDLDT1		8088782, 10431236, 10431237, 10431238	Standard	NM_005502		Approved	TGD	uc004bcl.3	O95477	OTTHUMG00000020417	ENST00000374736.3:c.5657_5663delCTCCTCT	9.37:g.107555161_107555167delAGAGGAG	ENSP00000363868:p.Ser1886fs						p.SPL1886fs	NM_005502.3	NP_005493.2	O95477	ABCA1_HUMAN		OV - Ovarian serous cystadenocarcinoma(323;0.023)	42	6051_6057	-			1886					Q5VX33|Q96S56|Q96T85|Q9NQV4|Q9UN06|Q9UN07|Q9UN08|Q9UN09	Frame_Shift_Del	DEL	ENST00000374736.3	37	c.5657_5663delCTCCTCT	CCDS6762.1																																																																																				0.386	ABCA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053491.1	NM_005502		21	55						21	55	---	---	---	---	-	107555167	AGAGGAG	-	107555161	7	5	94	1	0	1	0	1	0	0	0	0	28	188	7	0	1158	0	ABCA1	9	107555161	Frame_Shift_Del	DEL	AGAGGAG	TCGA-EJ-7782-01A-11D-2114-08	8404597	107555161	33658270	229	5048											
PTPN3	5774	broad.mit.edu	37	chr9	112145796	112145796	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagccgccgtggttcatgacGtcggggggatctggccagta	7	8	16	10	4	2	1	1	1	1	0	3	2	2	2	3	5	1	2	3	5	2	2			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr9:112145796G>A	ENST00000374541.2	-	23	2393	c.2289C>T	c.(2287-2289)gaC>gaT	p.D763D	PTPN3_ENST00000262539.3_Silent_p.D609D|PTPN3_ENST00000394827.3_Silent_p.D231D|PTPN3_ENST00000446349.1_Silent_p.D587D|PTPN3_ENST00000412145.1_Silent_p.D632D	NM_001145368.1|NM_002829.3	NP_001138840.1|NP_002820.3	P26045	PTN3_HUMAN	protein tyrosine phosphatase, non-receptor type 3	763	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.		D -> N (in dbSNP:rs10116806).		negative regulation of membrane protein ectodomain proteolysis (GO:0051045)|negative regulation of mitotic cell cycle (GO:0045930)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of membrane depolarization during action potential (GO:0098902)|regulation of sodium ion transmembrane transporter activity (GO:2000649)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoskeleton (GO:0005856)	ATPase binding (GO:0051117)|phosphotyrosine binding (GO:0001784)|protein tyrosine phosphatase activity (GO:0004725)|sodium channel regulator activity (GO:0017080)			breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						GGTTCATGACGTCGGGGGGAT	0.562																																						ENST00000412145.1																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						c.(1894-1896)gaC>gaT		protein tyrosine phosphatase, non-receptor type 3							129	121	124					9																	112145796		2203	4300	6503	SO:0001819	synonymous_variant	0				negative regulation of membrane protein ectodomain proteolysis|negative regulation of mitotic cell cycle	cytoplasm|cytoskeleton|internal side of plasma membrane	ATPase binding|cytoskeletal protein binding|phosphotyrosine binding|protein tyrosine phosphatase activity	g.chr9:112145796G>A		CCDS6776.1, CCDS48000.1, CCDS48001.1	9q31	2011-06-09			ENSG00000070159	ENSG00000070159		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"	9655	protein-coding gene	gene with protein product		176877				1648725	Standard	NM_002829		Approved	PTPH1	uc004bed.2	P26045	OTTHUMG00000020475	ENST00000374541.2:c.2289C>T	9.37:g.112145796G>A						PTPN3_ENST00000262539.3_Silent_p.D609D|PTPN3_ENST00000394827.3_Silent_p.D231D|PTPN3_ENST00000374541.2_Silent_p.D763D|PTPN3_ENST00000446349.1_Silent_p.D587D	p.D632D	NM_001145369.1|NM_001145371.1	NP_001138841.1|NP_001138843.1	P26045	PTN3_HUMAN			18	4449	-			763					A0AUW9|E7EN99|E9PGU7	Silent	SNP	ENST00000374541.2	37	c.1896C>T	CCDS6776.1																																																																																				0.562	PTPN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053598.4			12	46	0	0	0	1	0	12	46					A	112145796	G	A	112145796	2	1	94	1	0	0	0	0	0	0	0	1	12789	1136	40	1		1	PTPN3	9	112145796	Silent	SNP	G	TCGA-EJ-7782-01A-11D-2114-08	4590635	112145796	29067635	230	5049											
COL27A1	85301	broad.mit.edu	37	chr9	116930357	116930357	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtcactctggtgactgcctgCgggcagcgccgggtgcctgt	3	9	16	13	3	2	1	1	1	1	0	2	1	2	1	3	3	4	1	3	3	0	0			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr9:116930357C>T	ENST00000356083.3	+	3	913	c.522C>T	c.(520-522)tgC>tgT	p.C174C		NM_032888.2	NP_116277.2	Q8IZC6	CORA1_HUMAN	collagen, type XXVII, alpha 1	174	Laminin G-like.				extracellular matrix organization (GO:0030198)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|fibrillar collagen trimer (GO:0005583)	extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)			central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						TGACTGCCTGCGGGCAGCGCC	0.682																																						ENST00000356083.3																			0				central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						c.(520-522)tgC>tgT		collagen, type XXVII, alpha 1							18	20	19					9																	116930357		2186	4277	6463	SO:0001819	synonymous_variant	85301				cell adhesion		extracellular matrix structural constituent	g.chr9:116930357C>T	AB058773	CCDS6802.1	9q33.1	2013-01-16			ENSG00000196739	ENSG00000196739		"Collagens"	22986	protein-coding gene	gene with protein product		608461				12766169	Standard	NM_032888		Approved	KIAA1870, MGC11337, FLJ11895	uc011lxl.2	Q8IZC6	OTTHUMG00000020537	ENST00000356083.3:c.522C>T	9.37:g.116930357C>T							p.C174C	NM_032888.2	NP_116277.2	Q8IZC6	CORA1_HUMAN			3	913	+			174			Laminin G-like.|TSP N-terminal.		Q66K43|Q96JF7	Silent	SNP	ENST00000356083.3	37	c.522C>T	CCDS6802.1																																																																																				0.682	COL27A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053763.1	NM_032888		10	27	0	0	0	1	0	10	27					T	116930357	C	T	116930357	2	4	94	1	0	0	0	0	0	0	0	1	3685	776	27	1		1	COL27A1	9	116930357	Silent	SNP	C	TCGA-EJ-7782-01A-11D-2114-08	4784561	116930357	24283074	231	5050											
COL27A1	85301	broad.mit.edu	37	chr9	117072950	117072950	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agggaagcagtaccgcctggAagttggacctgcgtgcttcc	8	8	14	11	2	0	0	0	0	0	0	1	3	1	3	4	3	4	4	4	3	3	3			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr9:117072950A>G	ENST00000356083.3	+	61	5949	c.5558A>G	c.(5557-5559)gAa>gGa	p.E1853G		NM_032888.2	NP_116277.2	Q8IZC6	CORA1_HUMAN	collagen, type XXVII, alpha 1	1853	Fibrillar collagen NC1. {ECO:0000255|PROSITE-ProRule:PRU00793}.				extracellular matrix organization (GO:0030198)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|fibrillar collagen trimer (GO:0005583)	extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)			central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						TACCGCCTGGAAGTTGGACCT	0.607																																						ENST00000356083.3																			0				central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						c.(5557-5559)gAa>gGa		collagen, type XXVII, alpha 1							159	118	132					9																	117072950		2203	4300	6503	SO:0001583	missense	85301				cell adhesion		extracellular matrix structural constituent	g.chr9:117072950A>G	AB058773	CCDS6802.1	9q33.1	2013-01-16			ENSG00000196739	ENSG00000196739		"Collagens"	22986	protein-coding gene	gene with protein product		608461				12766169	Standard	NM_032888		Approved	KIAA1870, MGC11337, FLJ11895	uc011lxl.2	Q8IZC6	OTTHUMG00000020537	ENST00000356083.3:c.5558A>G	9.37:g.117072950A>G	ENSP00000348385:p.Glu1853Gly						p.E1853G	NM_032888.2	NP_116277.2	Q8IZC6	CORA1_HUMAN			61	5949	+			1853			Fibrillar collagen NC1.		Q66K43|Q96JF7	Missense_Mutation	SNP	ENST00000356083.3	37	c.5558A>G	CCDS6802.1	.	.	.	.	.	.	.	.	.	.	A	17.28	3.350259	0.61183	.	.	ENSG00000196739	ENST00000356083;ENST00000357257	T	0.75704	-0.96	5.67	4.51	0.55191	Fibrillar collagen, C-terminal (4);	.	.	.	.	D	0.86711	0.5998	M	0.89414	3.03	0.58432	D	0.999999	D;D	0.89917	1.0;0.997	D;D	0.81914	0.995;0.934	D	0.87488	0.2425	9	0.87932	D	0	.	10.3085	0.43695	0.8523:0.0:0.0:0.1477	.	168;1853	Q9HAA3;Q8IZC6	.;CORA1_HUMAN	G	1853;1860	ENSP00000348385:E1853G	ENSP00000348385:E1853G	E	+	2	0	COL27A1	116112771	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.339000	0.96797	0.947000	0.37659	0.459000	0.35465	GAA		0.607	COL27A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053763.1	NM_032888		11	29	0	0	0	1	0	11	29					G	117072950	A	G	117072950	3	3	94	1	0	0	0	0	1	0	0	0	3685	246	9	4	5800	4	COL27A1	9	117072950	Missense_Mutation	SNP	A	TCGA-EJ-7782-01A-11D-2114-08	142593	117072950	24140481	232	5051											
AKNA	80709	broad.mit.edu	37	chr9	117129977	117129977	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ctcctcgagctgatggccacCctggaatacacaactgctga	10	8	9	14	1	0	2	0	2	0	0	2	4	1	3	3	2	4	2	3	2	3	1			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr9:117129977C>A	ENST00000307564.4	-	6	1735	c.1574G>T	c.(1573-1575)gGg>gTg	p.G525V	AKNA_ENST00000312033.3_Splice_Site_p.G525V|AKNA_ENST00000374075.5_Splice_Site_p.G444V|AKNA_ENST00000223791.3_5'UTR|AKNA_ENST00000374088.3_Splice_Site_p.G525V	NM_030767.4	NP_110394.3	Q7Z591	AKNA_HUMAN	AT-hook transcription factor	525					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	membrane (GO:0016020)|nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(7)|liver(2)|lung(22)|ovary(4)|stomach(2)	51						TGATGGCCACCCTGGAATACA	0.582																																						ENST00000307564.4																			0				breast(3)|central_nervous_system(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(7)|liver(2)|lung(22)|ovary(4)|stomach(2)	51						c.e6-1		AT-hook transcription factor							39	37	38					9																	117129977		2203	4300	6503	SO:0001630	splice_region_variant	80709				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr9:117129977C>A	AK024431	CCDS6805.1	9q32	2008-02-05			ENSG00000106948	ENSG00000106948			24108	protein-coding gene	gene with protein product		605729				11268217, 11853319	Standard	NM_030767		Approved	KIAA1968	uc004bis.3	Q7Z591	OTTHUMG00000020538	ENST00000307564.4:c.1574-1G>T	9.37:g.117129977C>A						AKNA_ENST00000312033.3_Splice_Site_p.G525_splice|AKNA_ENST00000223791.3_5'UTR|AKNA_ENST00000374075.5_Splice_Site_p.G444_splice|AKNA_ENST00000374088.3_Splice_Site_p.G525_splice	p.G525_splice	NM_030767.4	NP_110394.3	Q7Z591	AKNA_HUMAN			6	1735	-			525					Q05BK5|Q5T535|Q5T536|Q5T537|Q64FX6|Q64FX7|Q64FX8|Q64FY2|Q6ZMK0|Q6ZNL2|Q6ZTX0|Q8TET1|Q8TF33|Q96RR9|Q9H7P7	Splice_Site	SNP	ENST00000307564.4	37	c.1573_splice	CCDS6805.1	.	.	.	.	.	.	.	.	.	.	C	16.81	3.224730	0.58668	.	.	ENSG00000106948	ENST00000307564;ENST00000394582;ENST00000374088;ENST00000374075;ENST00000312033	T;T;T;T	0.32988	2.66;2.66;2.66;1.43	4.9	2.08	0.27032	.	0.521412	0.17848	N	0.159952	T	0.41190	0.1148	L	0.44542	1.39	0.80722	D	1	D;D	0.89917	0.997;1.0	D;D	0.75020	0.942;0.985	T	0.25012	-1.0144	10	0.72032	D	0.01	.	6.6128	0.22761	0.0:0.7162:0.0:0.2838	.	525;444	Q7Z591;Q7Z591-2	AKNA_HUMAN;.	V	525;366;525;444;525	ENSP00000303769:G525V;ENSP00000363201:G525V;ENSP00000363188:G444V;ENSP00000309222:G525V	ENSP00000303769:G525V	G	-	2	0	AKNA	116169798	0.800000	0.28916	0.990000	0.47175	0.179000	0.23085	0.745000	0.26259	0.788000	0.33755	0.655000	0.94253	GGG		0.582	AKNA-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053767.2	NM_030767	Missense_Mutation	18	17	1	0	8.28177e-16	1	8.94431e-16	18	17					A	117129977	C	A	117129977	5	1	94	1	0	0	0	0	0	0	1	0	463	637	22	5	2813	5	AKNA	9	117129977	Splice_Site	SNP	C	TCGA-EJ-7782-01A-11D-2114-08	57027	117129977	24083454	233	5052											
TNC	3371	broad.mit.edu	37	chr9	117849133	117849133	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcactcattctccacgcatcGtccacggttgtagcaattgt	8	12	8	13	3	2	0	1	0	1	0	5	0	3	0	2	1	1	5	2	1	2	4			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr9:117849133G>A	ENST00000350763.4	-	3	1288	c.877C>T	c.(877-879)Cga>Tga	p.R293*	TNC_ENST00000537320.1_Nonsense_Mutation_p.R293*|TNC_ENST00000340094.3_Nonsense_Mutation_p.R293*|TNC_ENST00000423613.2_Nonsense_Mutation_p.R293*|TNC_ENST00000346706.3_Nonsense_Mutation_p.R293*|TNC_ENST00000535648.1_Nonsense_Mutation_p.R293*|TNC_ENST00000345230.3_Nonsense_Mutation_p.R293*|TNC_ENST00000542877.1_Nonsense_Mutation_p.R293*|TNC_ENST00000341037.4_Nonsense_Mutation_p.R293*	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	293	EGF-like 5. {ECO:0000255|PROSITE- ProRule:PRU00076}.				bud outgrowth involved in lung branching (GO:0060447)|cell adhesion (GO:0007155)|cellular response to prostaglandin D stimulus (GO:0071799)|cellular response to retinoic acid (GO:0071300)|cellular response to vitamin D (GO:0071305)|extracellular matrix organization (GO:0030198)|mesenchymal-epithelial cell signaling involved in prostate gland development (GO:0060739)|negative regulation of cell adhesion (GO:0007162)|neuromuscular junction development (GO:0007528)|odontogenesis of dentin-containing tooth (GO:0042475)|osteoblast differentiation (GO:0001649)|peripheral nervous system axon regeneration (GO:0014012)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|prostate gland epithelium morphogenesis (GO:0060740)|response to ethanol (GO:0045471)|response to fibroblast growth factor (GO:0071774)|response to mechanical stimulus (GO:0009612)|response to wounding (GO:0009611)|wound healing (GO:0042060)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|interstitial matrix (GO:0005614)|membrane (GO:0016020)	syndecan binding (GO:0045545)			NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						TCCACGCATCGTCCACGGTTG	0.562																																						ENST00000350763.4																			0				NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						c.(877-879)Cga>Tga		tenascin C							226	168	188					9																	117849133		2203	4300	6503	SO:0001587	stop_gained	3371				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding	g.chr9:117849133G>A		CCDS6811.1	9q33.1	2014-01-28	2008-07-31	2002-06-07	ENSG00000041982	ENSG00000041982		"Fibrinogen C domain containing", "Fibronectin type III domain containing"	5318	protein-coding gene	gene with protein product	"hexabrachion (tenascin)"	187380	"hexabrachion (tenascin C, cytotactin)", "deafness, autosomal dominant 56"	HXB, DFNA56		1704365, 1707164, 23936043	Standard	NM_002160		Approved	TN, MGC167029	uc004bjj.4	P24821	OTTHUMG00000021010	ENST00000350763.4:c.877C>T	9.37:g.117849133G>A	ENSP00000265131:p.Arg293*					TNC_ENST00000537320.1_Nonsense_Mutation_p.R293*|TNC_ENST00000542877.1_Nonsense_Mutation_p.R293*|TNC_ENST00000340094.3_Nonsense_Mutation_p.R293*|TNC_ENST00000535648.1_Nonsense_Mutation_p.R293*|TNC_ENST00000345230.3_Nonsense_Mutation_p.R293*|TNC_ENST00000346706.3_Nonsense_Mutation_p.R293*|TNC_ENST00000423613.2_Nonsense_Mutation_p.R293*|TNC_ENST00000341037.4_Nonsense_Mutation_p.R293*	p.R293*	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN			3	1288	-			293			EGF-like 5.		C9IYT7|C9J575|C9J6D9|C9J848|Q14583|Q15567|Q5T7S3	Nonsense_Mutation	SNP	ENST00000350763.4	37	c.877C>T	CCDS6811.1	.	.	.	.	.	.	.	.	.	.	G	40	8.224891	0.98714	.	.	ENSG00000041982	ENST00000340094;ENST00000535648;ENST00000346706;ENST00000345230;ENST00000350763;ENST00000442945;ENST00000341037;ENST00000423613;ENST00000537320;ENST00000542877	.	.	.	5.56	2.5	0.30297	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.9937	0.64382	0.0:0.0:0.6067:0.3933	.	.	.	.	X	293	.	ENSP00000344400:R293X	R	-	1	2	TNC	116888954	1.000000	0.71417	0.996000	0.52242	0.795000	0.44927	3.669000	0.54561	0.805000	0.34159	0.563000	0.77884	CGA		0.562	TNC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055418.2	NM_002160		15	74	0	0	0	1	0	15	74					A	117849133	G	A	117849133	4	1	94	1	0	0	0	0	0	1	0	0	16267	1153	40	1	5832	1	TNC	9	117849133	Nonsense_Mutation	SNP	G	TCGA-EJ-7782-01A-11D-2114-08	719156	117849133	23364298	234	5053											
RALGPS1	9649	broad.mit.edu	37	chr9	129931001	129931001	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgcagaagtacctgaagtcCgtacgctacattgaagagct	12	9	11	9	2	0	4	0	2	0	2	1	4	1	4	2	0	5	5	2	0	6	4			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr9:129931001C>T	ENST00000259351.5	+	10	1059	c.792C>T	c.(790-792)tcC>tcT	p.S264S	RALGPS1_ENST00000424082.2_Silent_p.S264S|RALGPS1_ENST00000394022.3_Silent_p.S264S|RALGPS1_ENST00000373434.1_Silent_p.S264S|RALGPS1_ENST00000373436.1_Silent_p.S264S	NM_014636.2	NP_055451.1	Q5JS13	RGPS1_HUMAN	Ral GEF with PH domain and SH3 binding motif 1	264	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				intracellular signal transduction (GO:0035556)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Ral GTPase activity (GO:0032852)|regulation of Ral protein signal transduction (GO:0032485)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|Ral guanyl-nucleotide exchange factor activity (GO:0008321)	p.S264S(2)		kidney(2)|large_intestine(6)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	19						ACCTGAAGTCCGTACGCTACA	0.527																																						ENST00000259351.5																			2	Substitution - coding silent(2)	p.S264S(2)	lung(2)	kidney(2)|large_intestine(6)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	19						c.(790-792)tcC>tcT		Ral GEF with PH domain and SH3 binding motif 1							192	166	175					9																	129931001		2203	4300	6503	SO:0001819	synonymous_variant	9649				small GTPase mediated signal transduction	cytoplasm|plasma membrane	guanyl-nucleotide exchange factor activity	g.chr9:129931001C>T	AB002349	CCDS35143.1, CCDS55344.1, CCDS55345.1, CCDS55346.1	9q33.3	2013-01-10			ENSG00000136828	ENSG00000136828		"Pleckstrin homology (PH) domain containing"	16851	protein-coding gene	gene with protein product		614444				9205841, 10747847	Standard	NM_001190728		Approved	RALGPS1A, RALGEF2, KIAA0351	uc004bqo.2	Q5JS13	OTTHUMG00000020696	ENST00000259351.5:c.792C>T	9.37:g.129931001C>T						RALGPS1_ENST00000373434.1_Silent_p.S264S|RALGPS1_ENST00000394022.3_Silent_p.S264S|RALGPS1_ENST00000424082.2_Silent_p.S264S|RALGPS1_ENST00000373436.1_Silent_p.S264S	p.S264S	NM_014636.2	NP_055451.1	Q5JS13	RGPS1_HUMAN			10	1059	+			264			Ras-GEF.		B4DR86|E9PBQ5|O15059|Q5JT60|Q5JT65|Q5JUG5|Q8N4S6|Q8N5H4|Q8WUV7|Q9NZ16	Silent	SNP	ENST00000259351.5	37	c.792C>T	CCDS35143.1																																																																																				0.527	RALGPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054133.1	NM_014636		9	78	0	0	0	1	0	9	78					T	129931001	C	T	129931001	2	4	94	1	0	0	0	0	0	0	0	1	13017	639	23	2		2	RALGPS1	9	129931001	Silent	SNP	C	TCGA-EJ-7782-01A-11D-2114-08	12081868	129931001	11282430	235	5054											
CERCAM	51148	broad.mit.edu	37	chr9	131196462	131196462	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acttcagggggcggctggagCggctgatggaggatgtggag	7	7	21	6	2	1	1	1	1	0	0	1	5	1	5	0	8	1	2	0	8	0	1	rs372180473	byFrequency	TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr9:131196462C>T	ENST00000372838.4	+	10	1683	c.1285C>T	c.(1285-1287)Cgg>Tgg	p.R429W	CERCAM_ENST00000372842.1_Missense_Mutation_p.R351W|RP11-339B21.10_ENST00000610052.1_RNA	NM_016174.4	NP_057258.3	Q5T4B2	GT253_HUMAN	cerebral endothelial cell adhesion molecule	429					cell adhesion (GO:0007155)|cellular component movement (GO:0006928)|leukocyte cell-cell adhesion (GO:0007159)|lipopolysaccharide biosynthetic process (GO:0009103)	endoplasmic reticulum (GO:0005783)|plasma membrane (GO:0005886)				endometrium(2)|kidney(4)|large_intestine(2)|lung(9)|ovary(1)|pancreas(2)	20						GCGGCTGGAGCGGCTGATGGA	0.632													C|||	3	0.000599042	0.0015	0	5008	,	,		17444	0		0	False		,,,				2504	0.001					ENST00000372842.1																			0				endometrium(2)|kidney(4)|large_intestine(2)|lung(9)|ovary(1)|pancreas(2)	20						c.(1051-1053)Cgg>Tgg		cerebral endothelial cell adhesion molecule		C	TRP/ARG	0,4406		0,0,2203	56	58	57		1285	0.7	0.2	9		57	1,8599	1.2+/-3.3	0,1,4299	no	missense	CERCAM	NM_016174.4	101	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	429/596	131196462	1,13005	2203	4300	6503	SO:0001583	missense	51148				cellular component movement|leukocyte cell-cell adhesion|lipopolysaccharide biosynthetic process	endoplasmic reticulum lumen|plasma membrane		g.chr9:131196462C>T	AB040935	CCDS6901.2, CCDS69675.1	9q34.13	2008-02-05	2007-10-17	2007-10-17	ENSG00000167123	ENSG00000167123			23723	protein-coding gene	gene with protein product	"glycosyltransferase 25 domain containing 3"		"cerebral cell adhesion molecule"	CEECAM1		10608765	Standard	NM_016174		Approved	GLT25D3, CerCAM	uc004buz.4	Q5T4B2	OTTHUMG00000020747	ENST00000372838.4:c.1285C>T	9.37:g.131196462C>T	ENSP00000361929:p.Arg429Trp					CERCAM_ENST00000372838.4_Missense_Mutation_p.R429W	p.R351W			Q5T4B2	GT253_HUMAN			11	4195	+			429					A7MD00|C4AMA2|Q0VDF3|Q2VPJ4|Q4KMP2|Q5T4B1|Q8N107|Q96EZ5|Q9P226|Q9UMW5	Missense_Mutation	SNP	ENST00000372838.4	37	c.1051C>T	CCDS6901.2	.	.	.	.	.	.	.	.	.	.	C	15.30	2.793648	0.50102	0.0	1.16E-4	ENSG00000167123	ENST00000372842;ENST00000372838;ENST00000413863	T;T	0.78126	-1.15;-1.14	5.74	0.679	0.17975	.	0.408059	0.25616	N	0.029460	T	0.73210	0.3558	M	0.78049	2.395	0.51233	D	0.999916	B	0.17465	0.022	B	0.18561	0.022	T	0.65096	-0.6251	10	0.72032	D	0.01	-23.409	6.3122	0.21171	0.374:0.4914:0.0:0.1346	.	429	Q5T4B2	GT253_HUMAN	W	351;429;382	ENSP00000361933:R351W;ENSP00000361929:R429W	ENSP00000361929:R429W	R	+	1	2	CERCAM	130236283	0.000000	0.05858	0.214000	0.23707	0.778000	0.44026	-0.472000	0.06623	-0.137000	0.11455	-0.953000	0.02652	CGG		0.632	CERCAM-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054435.2	NM_016174		6	36	0	0	0	1	0	6	36					T	131196462	C	T	131196462	3	4	94	1	0	0	0	0	1	0	0	0	3266	759	27	1	1323	1	CERCAM	9	131196462	Missense_Mutation	SNP	C	TCGA-EJ-7782-01A-11D-2114-08	1265461	131196462	10016969	236	5055											
TTF1	7270	broad.mit.edu	37	chr9	135277260	135277260	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tattcctgcagtttcaccatGcaggcccacagcaggccggg	8	8	11	14	1	1	0	1	0	0	0	2	0	2	0	4	3	3	4	4	3	1	3			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr9:135277260G>A	ENST00000334270.2	-	2	988	c.949C>T	c.(949-951)Cat>Tat	p.H317Y		NM_001205296.1|NM_007344.3	NP_001192225.1|NP_031370.2	Q15361	TTF1_HUMAN	transcription termination factor, RNA polymerase I	317					chromatin remodeling (GO:0006338)|DNA-templated transcription, termination (GO:0006353)|gene expression (GO:0010467)|negative regulation of DNA replication (GO:0008156)|regulation of transcription, DNA-templated (GO:0006355)|termination of RNA polymerase I transcription (GO:0006363)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;4.25e-06)|Epithelial(140;9.09e-05)		GTTTCACCATGCAGGCCCACA	0.493																																						ENST00000334270.2																			0				endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						c.(949-951)Cat>Tat		transcription termination factor, RNA polymerase I							119	115	116					9																	135277260		2203	4300	6503	SO:0001583	missense	7270				negative regulation of DNA replication|regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription	nucleolus|nucleoplasm	DNA binding	g.chr9:135277260G>A	BC050734	CCDS6948.1, CCDS75925.1	9q34.3	2008-02-05			ENSG00000125482	ENSG00000125482			12397	protein-coding gene	gene with protein product		600777				7597036	Standard	NM_007344		Approved		uc004cbl.3	Q15361	OTTHUMG00000020836	ENST00000334270.2:c.949C>T	9.37:g.135277260G>A	ENSP00000333920:p.His317Tyr						p.H317Y	NM_001205296.1|NM_007344.3	NP_001192225.1|NP_031370.2	Q15361	TTF1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;4.25e-06)|Epithelial(140;9.09e-05)	2	988	-		Myeloproliferative disorder(178;0.204)	317					A1L160|Q4VXF3|Q58EY2|Q6P5T5	Missense_Mutation	SNP	ENST00000334270.2	37	c.949C>T	CCDS6948.1	.	.	.	.	.	.	.	.	.	.	G	3.968	-0.008893	0.07727	.	.	ENSG00000125482	ENST00000334270;ENST00000245588	T	0.10099	2.91	1.72	-3.44	0.04796	.	.	.	.	.	T	0.04770	0.0129	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.36696	-0.9737	9	0.59425	D	0.04	.	5.9923	0.19474	0.0:0.2602:0.5811:0.1587	.	317	Q15361	TTF1_HUMAN	Y	317	ENSP00000333920:H317Y	ENSP00000245588:H317Y	H	-	1	0	TTF1	134267081	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.440000	0.21592	-1.400000	0.02061	-0.499000	0.04595	CAT		0.493	TTF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054784.2	NM_007344		39	85	0	0	0	1	0	39	85					A	135277260	G	A	135277260	3	1	94	1	0	0	0	0	1	0	0	0	16715	1319	46	3	1808	3	TTF1	9	135277260	Missense_Mutation	SNP	G	TCGA-EJ-7782-01A-11D-2114-08	4080798	135277260	5936171	237	5056											
SURF6	6838	broad.mit.edu	37	chr9	136199101	136199101	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cggtagttcctcccggtcagCggcgtgaggttccccttcac	4	10	12	15	4	2	1	2	1	0	0	5	1	5	1	4	4	1	3	4	4	1	4			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr9:136199101C>T	ENST00000372022.4	-	5	955	c.690G>A	c.(688-690)ccG>ccA	p.P230P	SURF6_ENST00000468290.1_5'UTR	NM_006753.4	NP_006744.2	O75683	SURF6_HUMAN	surfeit 6	230					ribosome biogenesis (GO:0042254)	granular component (GO:0001652)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(1)|large_intestine(5)|lung(5)|ovary(1)	12				OV - Ovarian serous cystadenocarcinoma(145;1.16e-06)|Epithelial(140;8.34e-06)|all cancers(34;7.08e-05)		TCCCGGTCAGCGGCGTGAGGT	0.672																																						ENST00000372022.4																			0				endometrium(1)|large_intestine(5)|lung(5)|ovary(1)	12						c.(688-690)ccG>ccA		surfeit 6							54	59	57					9																	136199101		2203	4293	6496	SO:0001819	synonymous_variant	6838					granular component	DNA binding|RNA binding	g.chr9:136199101C>T	AF186772	CCDS6962.1	9q33-q34	2010-07-06			ENSG00000148296	ENSG00000148296			11478	protein-coding gene	gene with protein product	"surfeit locus protein 6"	185642				9740673, 15629442	Standard	NM_006753		Approved	FLJ30322, RRP14	uc004cdb.4	O75683	OTTHUMG00000020871	ENST00000372022.4:c.690G>A	9.37:g.136199101C>T						SURF6_ENST00000468290.1_5'UTR	p.P230P	NM_006753.4	NP_006744.2	O75683	SURF6_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.16e-06)|Epithelial(140;8.34e-06)|all cancers(34;7.08e-05)	5	955	-			230					Q5T8U1|Q9BRK9|Q9BTZ5|Q9UK24	Silent	SNP	ENST00000372022.4	37	c.690G>A	CCDS6962.1																																																																																				0.672	SURF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054905.1	NM_006753		11	39	0	0	0	1	0	11	39					T	136199101	C	T	136199101	2	4	94	1	0	0	0	0	0	0	0	1	15403	755	27	1		1	SURF6	9	136199101	Silent	SNP	C	TCGA-EJ-7782-01A-11D-2114-08	921841	136199101	5014330	238	5057											
DBH	1621	broad.mit.edu	37	chr9	136501639	136501639	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccgtgagagccccctcccctAtcacatccccctggacccgg	6	6	8	21	2	1	1	1	1	0	1	3	3	3	2	8	2	1	0	8	2	1	1			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr9:136501639A>G	ENST00000393056.2	+	1	158	c.146A>G	c.(145-147)tAt>tGt	p.Y49C		NM_000787.3	NP_000778.3	P09172	DOPO_HUMAN	dopamine beta-hydroxylase (dopamine beta-monooxygenase)	49					behavioral response to ethanol (GO:0048149)|blood vessel remodeling (GO:0001974)|catecholamine biosynthetic process (GO:0042423)|cellular nitrogen compound metabolic process (GO:0034641)|cytokine production (GO:0001816)|dopamine catabolic process (GO:0042420)|fear response (GO:0042596)|glucose homeostasis (GO:0042593)|homoiothermy (GO:0042309)|leukocyte mediated immunity (GO:0002443)|leukocyte migration (GO:0050900)|locomotory behavior (GO:0007626)|maternal behavior (GO:0042711)|memory (GO:0007613)|norepinephrine biosynthetic process (GO:0042421)|positive regulation of vasoconstriction (GO:0045907)|regulation of cell proliferation (GO:0042127)|regulation of extrinsic apoptotic signaling pathway (GO:2001236)|response to amphetamine (GO:0001975)|response to pain (GO:0048265)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|secretory granule lumen (GO:0034774)	catalytic activity (GO:0003824)|copper ion binding (GO:0005507)|dopamine beta-monooxygenase activity (GO:0004500)|L-ascorbic acid binding (GO:0031418)			central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(9)|liver(1)|lung(6)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	36				OV - Ovarian serous cystadenocarcinoma(145;2.33e-07)|Epithelial(140;1.5e-06)|all cancers(34;1.66e-05)	Disulfiram(DB00822)|Dopamine(DB00988)|Propylthiouracil(DB00550)|Vitamin C(DB00126)	CCCCTCCCCTATCACATCCCC	0.642																																						ENST00000393056.2																			0				central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(9)|liver(1)|lung(6)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	36						c.(145-147)tAt>tGt		dopamine beta-hydroxylase (dopamine beta-monooxygenase)	Dopamine(DB00988)|Vitamin C(DB00126)						35	33	34					9																	136501639		2203	4300	6503	SO:0001583	missense	1621				hormone biosynthetic process	chromaffin granule lumen|chromaffin granule membrane|extracellular region|integral to membrane|membrane fraction|soluble fraction|transport vesicle membrane	dopamine beta-monooxygenase activity|L-ascorbic acid binding	g.chr9:136501639A>G	X13256	CCDS6977.2	9q34	2013-06-03			ENSG00000123454	ENSG00000123454	1.14.17.1		2689	protein-coding gene	gene with protein product		609312					Standard	NM_000787		Approved	DBM	uc004cel.3	P09172	OTTHUMG00000020878	ENST00000393056.2:c.146A>G	9.37:g.136501639A>G	ENSP00000376776:p.Tyr49Cys						p.Y49C	NM_000787.3	NP_000778.3	P09172	DOPO_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;2.33e-07)|Epithelial(140;1.5e-06)|all cancers(34;1.66e-05)	1	158	+			49					Q5T381|Q96AG2	Missense_Mutation	SNP	ENST00000393056.2	37	c.146A>G	CCDS6977.2	.	.	.	.	.	.	.	.	.	.	A	12.27	1.886708	0.33348	.	.	ENSG00000123454	ENST00000393056;ENST00000371880;ENST00000263611	T;T	0.52754	0.72;0.65	5.59	3.06	0.35304	.	0.171108	0.53938	D	0.000053	T	0.60805	0.2297	M	0.71581	2.175	0.50467	D	0.999874	D	0.64830	0.994	P	0.60012	0.867	T	0.64166	-0.6471	10	0.87932	D	0	-0.0184	10.5115	0.44864	0.7417:0.0:0.0:0.2583	.	49	P09172	DOPO_HUMAN	C	49;35;35	ENSP00000376776:Y49C;ENSP00000263611:Y35C	ENSP00000263611:Y35C	Y	+	2	0	DBH	135491460	1.000000	0.71417	0.995000	0.50966	0.003000	0.03518	4.373000	0.59537	0.930000	0.37217	0.459000	0.35465	TAT		0.642	DBH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054929.2	NM_000787		4	29	0	0	0	1	0	4	29					G	136501639	A	G	136501639	3	3	94	1	0	0	0	0	1	0	0	0	4250	449	16	4	148	4	DBH	9	136501639	Missense_Mutation	SNP	A	TCGA-EJ-7782-01A-11D-2114-08	302538	136501639	4711792	239	5058											
KCNT1	57582	broad.mit.edu	37	chr9	138657029	138657029	+	Frame_Shift_Del	DEL	C	C	-																															ctgaacgagttctacgcccaCccccggctccaggtgaggcc																								rs544796091	byFrequency	TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr9:138657029delC	ENST00000263604.3	+	12	1131	c.1131delC	c.(1129-1131)cacfs	p.H377fs	KCNT1_ENST00000490355.2_Frame_Shift_Del_p.H377fs|KCNT1_ENST00000488444.2_Frame_Shift_Del_p.H377fs|KCNT1_ENST00000491806.2_Frame_Shift_Del_p.H363fs|KCNT1_ENST00000487664.1_Frame_Shift_Del_p.H351fs|KCNT1_ENST00000371757.2_Frame_Shift_Del_p.H396fs|KCNT1_ENST00000298480.5_Frame_Shift_Del_p.H396fs|KCNT1_ENST00000486577.2_Frame_Shift_Del_p.H357fs			Q5JUK3	KCNT1_HUMAN	potassium channel, subfamily T, member 1	377					potassium ion transmembrane transport (GO:0071805)	voltage-gated potassium channel complex (GO:0008076)	calcium-activated potassium channel activity (GO:0015269)|voltage-gated potassium channel activity (GO:0005249)			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05)		TCTACGCCCACCCCCGGCTCC	0.642																																						ENST00000298480.5																			0				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						c.(1186-1188)cafs		potassium channel, subfamily T, member 1							155	146	149					9																	138657029		2203	4300	6503	SO:0001589	frameshift_variant	57582					membrane	binding|calcium-activated potassium channel activity	g.chr9:138657029delC	AB037843	CCDS35175.1, CCDS35175.2, CCDS65188.1	9q34.3	2012-07-05			ENSG00000107147	ENSG00000107147		"Potassium channels", "Voltage-gated ion channels / Potassium channels, calcium-activated"	18865	protein-coding gene	gene with protein product		608167				10718198, 16382103	Standard	NM_020822		Approved	KCa4.1, KIAA1422	uc011mdq.2	Q5JUK3	OTTHUMG00000020917	ENST00000263604.3:c.1131delC	9.37:g.138657029delC	ENSP00000263604:p.His377fs					KCNT1_ENST00000486577.2_Frame_Shift_Del_p.H357fs|KCNT1_ENST00000487664.1_Frame_Shift_Del_p.H351fs|KCNT1_ENST00000371757.2_Frame_Shift_Del_p.H396fs|KCNT1_ENST00000263604.3_Frame_Shift_Del_p.H377fs|KCNT1_ENST00000491806.2_Frame_Shift_Del_p.H363fs|KCNT1_ENST00000488444.2_Frame_Shift_Del_p.H377fs|KCNT1_ENST00000490355.2_Frame_Shift_Del_p.H377fs	p.H396fs			B7ZVY4	B7ZVY4_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05)	12	1262	+		Myeloproliferative disorder(178;0.0821)	396					B3KXF7|B7ZVY4|B9EGP2|G5E9V0|Q9P2C5	Frame_Shift_Del	DEL	ENST00000263604.3	37	c.1188delC																																																																																					0.642	KCNT1-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_020822		12	40						12	40	---	---	---	---	-	138657029	C	-	138657029	7	5	94	1	0	1	0	1	0	0	0	0	8091	506	18	0	1234	0	KCNT1	9	138657029	Frame_Shift_Del	DEL	C	TCGA-EJ-7782-01A-11D-2114-08	2155390	138657029	2556402	240	5059											
MAMDC4	29085	broad.mit.edu	37	chr9	139748345	139748345	+	IGR	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagtgaccacaggccgcatcCggggtgacttccgagtgagc	8	6	14	13	3	0	3	0	3	0	0	2	4	2	3	4	3	1	1	4	3	0	1			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr9:139748345C>T	ENST00000247665.10	+	0	890				MAMDC4_ENST00000317446.2_Missense_Mutation_p.R191W|MAMDC4_ENST00000445819.1_Missense_Mutation_p.R191W|MAMDC4_ENST00000485732.1_3'UTR	NM_014172.4	NP_054891.2	Q9NRX4	PHP14_HUMAN	phosphohistidine phosphatase 1						negative regulation of ATP citrate synthase activity (GO:2000984)|negative regulation of lyase activity (GO:0051350)|negative regulation of T cell receptor signaling pathway (GO:0050860)|peptidyl-histidine dephosphorylation (GO:0035971)|positive regulation of cell motility (GO:2000147)|positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0035774)|protein dephosphorylation (GO:0006470)|regulation of actin cytoskeleton reorganization (GO:2000249)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	calcium channel inhibitor activity (GO:0019855)|ion channel binding (GO:0044325)|phosphohistidine phosphatase activity (GO:0008969)|phosphoprotein phosphatase activity (GO:0004721)			NS(1)|large_intestine(1)|lung(1)	3	all_cancers(76;0.0763)|all_epithelial(76;0.198)	Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;1.52e-05)|Epithelial(140;0.000171)		AGGCCGCATCCGGGGTGACTT	0.657																																						ENST00000445819.1																			0				breast(4)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	19						c.(571-573)Cgg>Tgg		MAM domain containing 4							36	39	38					9																	139748345		2196	4300	6496	SO:0001628	intergenic_variant	158056				protein transport	integral to membrane		g.chr9:139748345C>T	AF131857	CCDS7009.1, CCDS48060.1	9q34.3	2008-02-05			ENSG00000054148	ENSG00000054148	3.1.3.-		30033	protein-coding gene	gene with protein product	"phosphohistidine phosphatase 14kDa", " sex-regulated protein janus-a"	610167				11042152, 8619474	Standard	NM_014172		Approved	PHP14, HSPC141, CGI-202, DKFZp564M173, bA216L13.10	uc004cjq.4	Q9NRX4	OTTHUMG00000020950		9.37:g.139748345C>T						MAMDC4_ENST00000317446.2_Missense_Mutation_p.R191W|MAMDC4_ENST00000485732.1_3'UTR	p.R191W			Q6UXC1	AEGP_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.52e-05)|Epithelial(140;0.000171)	5	621	+	all_cancers(76;0.0763)|all_epithelial(76;0.198)	Myeloproliferative disorder(178;0.0511)	191			MAM 1.		B1AMX0|B1AMX1|Q9H0Y3	Missense_Mutation	SNP	ENST00000247665.10	37	c.571C>T	CCDS7009.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	12.32|12.32	1.901659|1.901659	0.33535|0.33535	.|.	.|.	ENSG00000177943|ENSG00000177943	ENST00000413647|ENST00000317446;ENST00000445819	.|T;T	.|0.02103	.|4.45;4.45	4.78|4.78	1.68|1.68	0.24146|0.24146	.|.	.|0.949320	.|0.08693	.|N	.|0.907581	T|T	0.04724|0.04724	0.0128|0.0128	L|L	0.59436|0.59436	1.845|1.845	0.09310|0.09310	N|N	1|1	.|P	.|0.47350	.|0.894	.|B	.|0.43052	.|0.406	T|T	0.43782|0.43782	-0.9370|-0.9370	5|10	.|0.66056	.|D	.|0.02	-15.3841|-15.3841	12.7178|12.7178	0.57125|0.57125	0.5593:0.4407:0.0:0.0|0.5593:0.4407:0.0:0.0	.|.	.|191	.|Q6UXC1-2	.|.	L|W	172|191	.|ENSP00000319388:R191W;ENSP00000411339:R191W	.|ENSP00000319388:R191W	P|R	+|+	2|1	0|2	MAMDC4|MAMDC4	138868166|138868166	0.000000|0.000000	0.05858|0.05858	0.006000|0.006000	0.13384|0.13384	0.133000|0.133000	0.20885|0.20885	-0.137000|-0.137000	0.10389|0.10389	0.045000|0.045000	0.15804|0.15804	-0.310000|-0.310000	0.09108|0.09108	CCG|CGG		0.657	PHPT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055150.1	NM_014172		3	17	0	0	0	1	0	3	17					T	139748345	C	T	139748345	1	4	94	0	1	0	0	0	0	0	0	0	9204	643	23	2		2	MAMDC4	9	139748345	IGR	SNP	C	TCGA-EJ-7782-01A-11D-2114-08	1091316	139748345	1465086	241	5060											
WDR37	22884	broad.mit.edu	37	chr10	1149689	1149689	+	Frame_Shift_Del	DEL	G	G	-																															tcgcctccgactggctggttGgggggaagcaggctgtgact																										TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr10:1149689delG	ENST00000358220.1	+	10	1018	c.874delG	c.(874-876)gggfs	p.G293fs	WDR37_ENST00000263150.4_Frame_Shift_Del_p.G293fs			Q9Y2I8	WDR37_HUMAN	WD repeat domain 37	293										breast(2)|endometrium(2)|kidney(1)|lung(9)|prostate(2)|skin(1)	17		all_epithelial(10;0.0449)|Colorectal(49;0.142)		Epithelial(11;0.134)		CTGGCTGGTTGGGGGGAAGCA	0.642																																						ENST00000358220.1																			0				breast(2)|endometrium(2)|kidney(1)|lung(9)|prostate(2)|skin(1)	17						c.(874-876)ggfs		WD repeat domain 37							62	57	59					10																	1149689		2203	4300	6503	SO:0001589	frameshift_variant	22884							g.chr10:1149689delG	AB023199	CCDS7057.1	10p15.3	2013-01-09			ENSG00000047056	ENSG00000047056		"WD repeat domain containing"	31406	protein-coding gene	gene with protein product						10231032, 11230166	Standard	NM_014023		Approved	KIAA0982	uc001igf.1	Q9Y2I8	OTTHUMG00000017540	ENST00000358220.1:c.874delG	10.37:g.1149689delG	ENSP00000350954:p.Gly293fs					WDR37_ENST00000263150.4_Frame_Shift_Del_p.G293fs	p.G293fs			Q9Y2I8	WDR37_HUMAN		Epithelial(11;0.134)	10	1018	+		all_epithelial(10;0.0449)|Colorectal(49;0.142)	293					A8K976|D3DRQ7|Q5SW03|Q8WVG2|Q9NTJ6	Frame_Shift_Del	DEL	ENST00000358220.1	37	c.874delG	CCDS7057.1																																																																																				0.642	WDR37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046418.1	NM_014023		16	45						16	45	---	---	---	---	-	1149689	G	-	1149689	7	5	94	1	0	1	0	1	0	0	0	0	17288	1348	47	0	908	0	WDR37	10	1149689	Frame_Shift_Del	DEL	G	TCGA-EJ-7782-01A-11D-2114-08		1149689	134385058	242	5061											
USP6NL	9712	broad.mit.edu	37	chr10	11505706	11505706	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctcgtgcctcctgtggggCgccccgctctccctcctgcc	0	10	11	20	3	1	0	0	0	1	0	5	0	3	0	7	2	3	2	7	2	0	0	rs577831766		TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr10:11505706C>T	ENST00000609104.1	-	15	1615	c.1221G>A	c.(1219-1221)gcG>gcA	p.A407A	USP6NL_ENST00000277575.5_Silent_p.A424A|USP6NL_ENST00000379237.2_Silent_p.A430A	NM_014688.2	NP_055503.1	Q92738	US6NL_HUMAN	USP6 N-terminal like	407					Golgi organization (GO:0007030)|plasma membrane to endosome transport (GO:0048227)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of Rab GTPase activity (GO:0032851)|regulation of Golgi organization (GO:1903358)|retrograde transport, plasma membrane to Golgi (GO:0035526)|virion assembly (GO:0019068)	cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	Rab GTPase activator activity (GO:0005097)|Rab GTPase binding (GO:0017137)			endometrium(3)|kidney(2)|large_intestine(6)|lung(18)|prostate(1)|skin(1)|urinary_tract(1)	32						TCCTGTGGGGCGCCCCGCTCT	0.692													C|||	1	0.000199681	0	0.0014	5008	,	,		12444	0		0	False		,,,				2504	0					ENST00000379237.1																			0				endometrium(3)|kidney(2)|large_intestine(6)|lung(18)|prostate(1)|skin(1)|urinary_tract(1)	32						c.(1219-1221)gcG>gcA		USP6 N-terminal like							25	27	27					10																	11505706		1919	4107	6026	SO:0001819	synonymous_variant	9712					intracellular	Rab GTPase activator activity	g.chr10:11505706C>T	BC010351	CCDS44357.1, CCDS53492.1	10p13	2013-07-09			ENSG00000148429	ENSG00000148429			16858	protein-coding gene	gene with protein product	"related to the N terminus of tre"	605405	"USP6NL intronic transcript 1 (non-protein coding)"	USP6NL-IT1		8700515, 8700527, 12399475	Standard	XR_247492		Approved	RNTRE, KIAA0019, TRE2NL, RN-tre	uc001iks.1	Q92738	OTTHUMG00000017672	ENST00000609104.1:c.1221G>A	10.37:g.11505706C>T						USP6NL_ENST00000277575.5_Silent_p.A424A	p.A407A	NM_014688.2	NP_055503.1	Q92738	US6NL_HUMAN			15	1615	-			407					A8KA79|Q15400|Q5VV10|Q7L0K9	Silent	SNP	ENST00000609104.1	37	c.1221G>A	CCDS53492.1																																																																																				0.692	USP6NL-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000046764.3	NM_014688		7	25	0	0	0	1	0	7	25					T	11505706	C	T	11505706	2	4	94	1	0	0	0	0	0	0	0	1	17084	755	27	1		1	USP6NL	10	11505706	Silent	SNP	C	TCGA-EJ-7782-01A-11D-2114-08	10356017	11505706	124029041	243	5062											
DCLRE1C	64421	broad.mit.edu	37	chr10	14961816	14961816	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tccgtactttgggaagaccgGcataaaggctttaagctgaa	12	10	11	8	2	0	2	0	1	0	1	1	3	1	3	2	3	2	4	2	3	6	5			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr10:14961816G>A	ENST00000378278.2	-	13	1114	c.1077C>T	c.(1075-1077)tgC>tgT	p.C359C	DCLRE1C_ENST00000378242.1_Silent_p.C12C|DCLRE1C_ENST00000378258.1_Silent_p.C239C|DCLRE1C_ENST00000378255.1_Silent_p.C239C|DCLRE1C_ENST00000357717.2_Silent_p.C244C|DCLRE1C_ENST00000396817.2_Silent_p.C239C|DCLRE1C_ENST00000378289.4_Silent_p.C359C|DCLRE1C_ENST00000492201.1_5'UTR|DCLRE1C_ENST00000378249.1_Silent_p.C244C|DCLRE1C_ENST00000378254.1_Silent_p.C239C|DCLRE1C_ENST00000378246.2_Silent_p.C244C|DCLRE1C_ENST00000453695.2_Silent_p.C239C			Q96SD1	DCR1C_HUMAN	DNA cross-link repair 1C	359					B cell differentiation (GO:0030183)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA recombination (GO:0006310)|double-strand break repair (GO:0006302)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|response to ionizing radiation (GO:0010212)|telomere maintenance (GO:0000723)	nucleus (GO:0005634)	5'-3' exonuclease activity (GO:0008409)|single-stranded DNA endodeoxyribonuclease activity (GO:0000014)			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)	17						GGGAAGACCGGCATAAAGGCT	0.378								Non-homologous end-joining																														ENST00000453695.2																			0				breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)	17						c.(715-717)tgC>tgT	Non-homologous end-joining	DNA cross-link repair 1C							114	110	111					10																	14961816		2203	4300	6503	SO:0001819	synonymous_variant	64421				DNA recombination	nucleus	5'-3' exonuclease activity|single-stranded DNA specific endodeoxyribonuclease activity	g.chr10:14961816G>A	BC022254	CCDS7105.1, CCDS31149.1, CCDS31150.1	10p13	2014-09-17	2010-06-24		ENSG00000152457	ENSG00000152457			17642	protein-coding gene	gene with protein product	"PSO2 homolog (S. cerevisiae)"	605988	"severe combined immunodeficiency, type a (Athabascan)", "DNA cross-link repair 1C (PSO2 homolog, S. cerevisiae)"	SCIDA		11336668, 9443881	Standard	XM_005252558		Approved	ARTEMIS, FLJ11360, SNM1C, A-SCID	uc001inn.3	Q96SD1	OTTHUMG00000017716	ENST00000378278.2:c.1077C>T	10.37:g.14961816G>A						DCLRE1C_ENST00000357717.2_Silent_p.C244C|DCLRE1C_ENST00000396817.2_Silent_p.C239C|DCLRE1C_ENST00000378246.2_Silent_p.C244C|DCLRE1C_ENST00000378258.1_Silent_p.C239C|DCLRE1C_ENST00000378242.1_Silent_p.C12C|DCLRE1C_ENST00000492201.1_5'UTR|DCLRE1C_ENST00000378254.1_Silent_p.C239C|DCLRE1C_ENST00000378255.1_Silent_p.C239C|DCLRE1C_ENST00000378249.1_Silent_p.C244C|DCLRE1C_ENST00000378278.2_Silent_p.C359C|DCLRE1C_ENST00000378289.4_Silent_p.C359C	p.C239C	NM_001033855.1	NP_001029027.1	Q96SD1	DCR1C_HUMAN			13	1161	-			359					D3DRT6|Q1HCL2|Q5JSR4|Q5JSR5|Q5JSR7|Q5JSR8|Q5JSR9|Q5JSS0|Q5JSS7|Q6PK14|Q8N101|Q8N132|Q8TBW9|Q9BVW9|Q9HAM4	Silent	SNP	ENST00000378278.2	37	c.717C>T	CCDS31149.1																																																																																				0.378	DCLRE1C-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046934.1	NM_022487		5	65	0	0	0	1	0	5	65					A	14961816	G	A	14961816	2	1	94	1	0	0	0	0	0	0	0	1	4296	1195	42	3		3	DCLRE1C	10	14961816	Silent	SNP	G	TCGA-EJ-7782-01A-11D-2114-08	3456110	14961816	120572931	244	5063											
FAM171A1	221061	broad.mit.edu	37	chr10	15254959	15254959	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ggcctctcctcccgtttctgCcaggggcttttcttgtcttc	1	16	9	15	1	4	0	0	0	4	0	7	0	5	0	4	3	1	2	4	3	0	5			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr10:15254959C>T	ENST00000378116.4	-	8	2634	c.2628G>A	c.(2626-2628)tgG>tgA	p.W876*	FAM171A1_ENST00000477161.1_5'Flank	NM_001010924.1	NP_001010924.1	Q5VUB5	F1711_HUMAN	family with sequence similarity 171, member A1	876						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(6)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	52						CCCGTTTCTGCCAGGGGCTTT	0.512																																						ENST00000378116.4																			0				breast(6)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	52						c.(2626-2628)tgG>tgA		family with sequence similarity 171, member A1							133	133	133					10																	15254959		2203	4300	6503	SO:0001587	stop_gained	221061					integral to membrane		g.chr10:15254959C>T	AK022946	CCDS31154.1	10p13	2008-06-16	2008-06-16	2008-06-16	ENSG00000148468	ENSG00000148468			23522	protein-coding gene	gene with protein product			"chromosome 10 open reading frame 38"	C10orf38			Standard	NM_001010924		Approved	FLJ12884	uc001iob.3	Q5VUB5	OTTHUMG00000017732	ENST00000378116.4:c.2628G>A	10.37:g.15254959C>T	ENSP00000367356:p.Trp876*						p.W876*	NM_001010924.1	NP_001010924.1	Q5VUB5	F1711_HUMAN			8	2634	-			876					D3DRT9|Q32M49|Q8N4I0	Nonsense_Mutation	SNP	ENST00000378116.4	37	c.2628G>A	CCDS31154.1	.	.	.	.	.	.	.	.	.	.	C	37	6.328742	0.97480	.	.	ENSG00000148468	ENST00000378116;ENST00000396781	.	.	.	5.01	5.01	0.66863	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-15.9849	18.5102	0.90913	0.0:1.0:0.0:0.0	.	.	.	.	X	876;875	.	ENSP00000367356:W876X	W	-	3	0	FAM171A1	15294965	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.909000	0.69923	2.597000	0.87782	0.563000	0.77884	TGG		0.512	FAM171A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046984.1	XM_167709		32	72	0	0	0	1	0	32	72					T	15254959	C	T	15254959	4	4	94	1	0	0	0	0	0	1	0	0	5490	740	26	3	48	3	FAM171A1	10	15254959	Nonsense_Mutation	SNP	C	TCGA-EJ-7782-01A-11D-2114-08	293143	15254959	120279788	245	5064											
ZNF37A	7587	broad.mit.edu	37	chr10	38407509	38407509	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaatgtgggaaaaccttccGtcagaagtcagccctaattg	12	10	10	9	1	2	2	2	1	0	1	3	3	3	3	3	1	2	0	3	1	5	3	rs371302765		TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr10:38407509G>A	ENST00000361085.5	+	7	1775	c.1430G>A	c.(1429-1431)cGt>cAt	p.R477H	ZNF37A_ENST00000351773.3_Missense_Mutation_p.R477H	NM_001178101.1|NM_003421.2	NP_001171572.1|NP_003412.1	P17032	ZN37A_HUMAN	zinc finger protein 37A	477					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|prostate(1)	28						AAAACCTTCCGTCAGAAGTCA	0.403																																						ENST00000351773.3																			0				NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|prostate(1)	28						c.(1429-1431)cGt>cAt		zinc finger protein 37A		G	HIS/ARG,HIS/ARG,HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	58	59	58		1430,1430,1430	0.4	1	10		58	0,8600		0,0,4300	no	missense,missense,missense	ZNF37A	NM_001007094.2,NM_001178101.1,NM_003421.2	29,29,29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging,probably-damaging	477/562,477/562,477/562	38407509	1,13005	2203	4300	6503	SO:0001583	missense	7587					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr10:38407509G>A	X69115	CCDS31183.1	10p11.2	2013-01-08	2006-05-11		ENSG00000075407	ENSG00000075407		"Zinc fingers, C2H2-type", "-"	13102	protein-coding gene	gene with protein product			"zinc finger protein 37a (KOX 21)"			2014798, 8464732	Standard	NM_001178101		Approved	KOX21, ZNF37	uc001izl.3	P17032	OTTHUMG00000017990	ENST00000361085.5:c.1430G>A	10.37:g.38407509G>A	ENSP00000354377:p.Arg477His					ZNF37A_ENST00000361085.4_Missense_Mutation_p.R477H	p.R477H	NM_001007094.2	NP_001007095.1	P17032	ZN37A_HUMAN			8	2260	+			477					B3KRQ3|D3DRZ3|Q96B88	Missense_Mutation	SNP	ENST00000361085.5	37	c.1430G>A	CCDS31183.1	.	.	.	.	.	.	.	.	.	.	G	12.85	2.060115	0.36373	2.27E-4	0.0	ENSG00000075407	ENST00000351773;ENST00000361085	T;T	0.18016	2.24;2.24	2.34	0.388	0.16264	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.08268	0.0206	N	0.20766	0.605	0.09310	N	1	B	0.19200	0.034	B	0.13407	0.009	T	0.38824	-0.9643	9	0.20519	T	0.43	.	2.6961	0.05135	0.3289:0.258:0.4131:0.0	.	477	P17032	ZN37A_HUMAN	H	477	ENSP00000329141:R477H;ENSP00000354377:R477H	ENSP00000329141:R477H	R	+	2	0	ZNF37A	38447515	0.000000	0.05858	0.982000	0.44146	0.859000	0.49053	-2.016000	0.01446	0.323000	0.23307	-0.218000	0.12543	CGT		0.403	ZNF37A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047624.2	NM_003421		29	57	0	0	0	1	0	29	57					A	38407509	G	A	38407509	3	1	94	1	0	0	0	0	1	0	0	0	17869	1145	40	1	1444	1	ZNF37A	10	38407509	Missense_Mutation	SNP	G	TCGA-EJ-7782-01A-11D-2114-08	23152550	38407509	97127238	246	5065											
BMS1	9790	broad.mit.edu	37	chr10	43285947	43285947	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttaaaacacaggttctggacGgaagtttacccggtacgaag	13	9	11	8	3	1	0	0	0	1	0	1	3	1	2	1	4	3	3	1	4	6	5			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr10:43285947G>A	ENST00000374518.5	+	5	687	c.624G>A	c.(622-624)acG>acA	p.T208T		NM_014753.3	NP_055568.3	Q14692	BMS1_HUMAN	BMS1 ribosome biogenesis factor	208	Bms1-type G.				ribosome assembly (GO:0042255)	nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(23)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						GGTTCTGGACGGAAGTTTACC	0.413																																						ENST00000374518.4																			0				NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(23)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						c.(622-624)acG>acA		BMS1 ribosome biogenesis factor							73	73	73					10																	43285947		2203	4299	6502	SO:0001819	synonymous_variant	9790				ribosome assembly	nucleolus	ATP binding|GTP binding|GTPase activity	g.chr10:43285947G>A	BC043345	CCDS7199.1	10q11.21	2013-05-01	2013-05-01	2007-03-20	ENSG00000165733	ENSG00000165733			23505	protein-coding gene	gene with protein product		611448	"BMS1-like, ribosome assembly protein (yeast)", "BMS1 homolog, ribosome assembly protein (yeast)"	BMS1L		11779832	Standard	NM_014753		Approved	KIAA0187	uc001jaj.3	Q14692	OTTHUMG00000018020	ENST00000374518.5:c.624G>A	10.37:g.43285947G>A							p.T208T	NM_014753.3	NP_055568.3	Q14692	BMS1_HUMAN			5	687	+			208					Q5QPT5|Q86XJ9	Silent	SNP	ENST00000374518.5	37	c.624G>A	CCDS7199.1																																																																																				0.413	BMS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047690.2	NM_014753		24	50	0	0	0	1	0	24	50					A	43285947	G	A	43285947	2	1	94	1	0	0	0	0	0	0	0	1	1472	1103	39	2		2	BMS1	10	43285947	Silent	SNP	G	TCGA-EJ-7782-01A-11D-2114-08	4878438	43285947	92248800	247	5066											
AGAP6	414189	broad.mit.edu	37	chr10	51748529	51748529	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	agcgtcagcctcgagtttgaCcagcagcaggggtcggtgtg	7	8	16	10	3	1	1	1	1	0	0	3	2	1	1	2	3	4	3	2	3	0	1			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr10:51748529C>T	ENST00000374056.4	+	1	452	c.54C>T	c.(52-54)gaC>gaT	p.D18D	AGAP6_ENST00000412531.3_Silent_p.D18D			Q5VW22	AGAP6_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 6	18					regulation of ARF GTPase activity (GO:0032312)		ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)			NS(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(1)|lung(8)|prostate(3)|skin(1)|stomach(2)	29						TCGAGTTTGACCAGCAGCAGG	0.607																																						ENST00000374056.4																			0				NS(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(1)|lung(8)|prostate(3)|skin(1)|stomach(2)	29						c.(52-54)gaC>gaT		ArfGAP with GTPase domain, ankyrin repeat and PH domain 6																																				SO:0001819	synonymous_variant	414189				regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding	g.chr10:51748529C>T		CCDS44397.1	10q11.23	2013-01-10	2008-09-22	2008-09-22	ENSG00000204149	ENSG00000204149		"ADP-ribosylation factor GTPase activating proteins", "Pleckstrin homology (PH) domain containing", "Ankyrin repeat domain containing"	23466	protein-coding gene	gene with protein product			"centaurin, gamma-like family, member 3"	CTGLF3			Standard	NM_001077665		Approved	bA324H6.1	uc001jix.4	Q5VW22	OTTHUMG00000018220	ENST00000374056.4:c.54C>T	10.37:g.51748529C>T						AGAP6_ENST00000412531.3_Silent_p.D18D	p.D18D			C9IYN2	C9IYN2_HUMAN			1	452	+			18						Silent	SNP	ENST00000374056.4	37	c.54C>T																																																																																					0.607	AGAP6-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_001077665		15	17	0	0	0	1	0	15	17					T	51748529	C	T	51748529	2	4	94	1	0	0	0	0	0	0	0	1	372	506	18	3		3	AGAP6	10	51748529	Silent	SNP	C	TCGA-EJ-7782-01A-11D-2114-08	8462582	51748529	83786218	248	5067											
TET1	80312	broad.mit.edu	37	chr10	70451231	70451231	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggttttgattgagtgtgcccGgcgagagctgcacgctacca	7	10	14	10	3	0	3	0	2	0	1	0	4	0	3	2	2	4	4	2	2	1	4			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr10:70451231G>A	ENST00000373644.4	+	12	6280	c.6071G>A	c.(6070-6072)cGg>cAg	p.R2024Q		NM_030625.2	NP_085128.2	Q8NFU7	TET1_HUMAN	tet methylcytosine dioxygenase 1	2024					chromatin modification (GO:0016568)|DNA demethylation (GO:0080111)|inner cell mass cell differentiation (GO:0001826)|negative regulation of methylation-dependent chromatin silencing (GO:0090310)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein O-linked glycosylation (GO:0006493)|regulation of DNA methylation (GO:0044030)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	iron ion binding (GO:0005506)|methylcytosine dioxygenase activity (GO:0070579)|structure-specific DNA binding (GO:0043566)|zinc ion binding (GO:0008270)	p.R2024Q(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2)	21						GAGTGTGCCCGGCGAGAGCTG	0.522																																						ENST00000373644.4																			1	Substitution - Missense(1)	p.R2024Q(1)	large_intestine(1)	breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2)	21						c.(6070-6072)cGg>cAg		tet methylcytosine dioxygenase 1							96	90	92					10																	70451231		2203	4300	6503	SO:0001583	missense	80312				DNA demethylation|inner cell mass cell differentiation|negative regulation of methylation-dependent chromatin silencing|stem cell maintenance		iron ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|structure-specific DNA binding|zinc ion binding	g.chr10:70451231G>A	AF430147	CCDS7281.1	10q21	2014-02-18	2011-09-30	2008-03-12	ENSG00000138336	ENSG00000138336			29484	protein-coding gene	gene with protein product	"leukemia-associated protein with a CXXC domain", "ten-eleven translocation-1"	607790	"CXXC zinc finger 6", "tet oncogene 1"	CXXC6		12124344, 12646957	Standard	NM_030625		Approved	LCX, KIAA1676, bA119F7.1	uc001jok.4	Q8NFU7	OTTHUMG00000018359	ENST00000373644.4:c.6071G>A	10.37:g.70451231G>A	ENSP00000362748:p.Arg2024Gln						p.R2024Q	NM_030625.2	NP_085128.2	Q8NFU7	TET1_HUMAN			12	6280	+			2024					Q5VUP7|Q7Z6B6|Q8TCR1|Q9C0I7	Missense_Mutation	SNP	ENST00000373644.4	37	c.6071G>A	CCDS7281.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.053723	0.75960	.	.	ENSG00000138336	ENST00000373644	T	0.12465	2.68	5.6	5.6	0.85130	Methylcytosine dioxygenase TET, double-stranded beta helix fold domain (1);	0.296167	0.30781	N	0.008893	T	0.35828	0.0945	M	0.72894	2.215	0.32793	N	0.500866	D	0.76494	0.999	D	0.79108	0.992	T	0.45702	-0.9243	10	0.72032	D	0.01	.	13.2315	0.59947	0.0729:0.0:0.9271:0.0	.	2024	Q8NFU7	TET1_HUMAN	Q	2024	ENSP00000362748:R2024Q	ENSP00000362748:R2024Q	R	+	2	0	TET1	70121237	1.000000	0.71417	0.950000	0.38849	0.329000	0.28539	7.596000	0.82721	2.806000	0.96561	0.655000	0.94253	CGG		0.522	TET1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048354.1	NM_030625		32	56	0	0	0	1	0	32	56					A	70451231	G	A	70451231	3	1	94	1	0	0	0	0	1	0	0	0	15766	1116	39	2	6113	2	TET1	10	70451231	Missense_Mutation	SNP	G	TCGA-EJ-7782-01A-11D-2114-08	18702702	70451231	65083516	249	5068											
DDX50	79009	broad.mit.edu	37	chr10	70679687	70679687	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggagggctattattttctgtGagaccaagaagaatgtaact	13	12	11	5	0	1	3	0	1	1	3	1	5	1	4	1	2	1	2	1	2	6	5			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr10:70679687G>A	ENST00000373585.3	+	8	1296	c.1189G>A	c.(1189-1191)Gag>Aag	p.E397K	DDX50_ENST00000466265.1_3'UTR	NM_024045.1	NP_076950.1	Q9BQ39	DDX50_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 50	397	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.					membrane (GO:0016020)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)			breast(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	29						TATTTTCTGTGAGACCAAGAA	0.413																																						ENST00000373585.3																			0				breast(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	29						c.(1189-1191)Gag>Aag		DEAD (Asp-Glu-Ala-Asp) box polypeptide 50							116	113	114					10																	70679687		2203	4300	6503	SO:0001583	missense	79009					nucleolus	ATP binding|ATP-dependent helicase activity|RNA binding	g.chr10:70679687G>A	AF334103	CCDS7283.1	10q22.2	2010-09-30			ENSG00000107625	ENSG00000107625		"DEAD-boxes"	17906	protein-coding gene	gene with protein product		610373				11891046	Standard	NM_024045		Approved	GU2, MGC3199, GUB, RH-II/GuB	uc001jou.3	Q9BQ39	OTTHUMG00000018362	ENST00000373585.3:c.1189G>A	10.37:g.70679687G>A	ENSP00000362687:p.Glu397Lys					DDX50_ENST00000466265.1_3'UTR	p.E397K	NM_024045.1	NP_076950.1	Q9BQ39	DDX50_HUMAN			8	1296	+			397			Helicase C-terminal.		Q5VX37|Q8WV76|Q9BWI8	Missense_Mutation	SNP	ENST00000373585.3	37	c.1189G>A	CCDS7283.1	.	.	.	.	.	.	.	.	.	.	G	33	5.210784	0.95069	.	.	ENSG00000107625	ENST00000373585;ENST00000541832	T	0.04758	3.56	4.4	4.4	0.53042	Helicase, C-terminal (1);	0.045665	0.85682	D	0.000000	T	0.08492	0.0211	N	0.21508	0.67	0.58432	D	0.999997	P	0.51933	0.949	P	0.52957	0.714	T	0.37291	-0.9712	10	0.46703	T	0.11	-10.8147	17.3516	0.87326	0.0:0.0:1.0:0.0	.	397	Q9BQ39	DDX50_HUMAN	K	397	ENSP00000362687:E397K	ENSP00000362687:E397K	E	+	1	0	DDX50	70349693	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.225000	0.95219	2.140000	0.66376	0.484000	0.47621	GAG		0.413	DDX50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048363.1	NM_024045		16	71	0	0	0	1	0	16	71					A	70679687	G	A	70679687	3	1	94	1	0	0	0	0	1	0	0	0	4368	1291	45	3	1219	3	DDX50	10	70679687	Missense_Mutation	SNP	G	TCGA-EJ-7782-01A-11D-2114-08	228456	70679687	64855060	250	5069											
NDST2	8509	broad.mit.edu	37	chr10	75563390	75563390	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcactgtgatgatcttggctCgtggcaggagggcagccccc	6	8	15	12	1	1	2	0	2	1	0	2	3	1	3	2	4	1	4	2	4	0	1	rs373342432		TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr10:75563390C>T	ENST00000309979.6	-	11	2640	c.2084G>A	c.(2083-2085)cGa>cAa	p.R695Q	RP11-574K11.31_ENST00000603027.1_Missense_Mutation_p.R695Q|NDST2_ENST00000299641.4_Missense_Mutation_p.R572Q|ZSWIM8-AS1_ENST00000456638.2_RNA			P52849	NDST2_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 2	695	Heparan sulfate N-sulfotransferase 2.				carbohydrate metabolic process (GO:0005975)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparin biosynthetic process (GO:0030210)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine N-sulfotransferase activity (GO:0015016)|hydrolase activity (GO:0016787)			cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	30	Prostate(51;0.0112)					GATCTTGGCTCGTGGCAGGAG	0.557																																						ENST00000299641.4																			0				cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	30						c.(1714-1716)cGa>cAa		N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 2							116	126	123					10																	75563390		2203	4300	6503	SO:0001583	missense	8509					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity	g.chr10:75563390C>T	U36601	CCDS7335.1	10q22	2007-03-14			ENSG00000166507	ENSG00000166507		"Sulfotransferases, membrane-bound"	7681	protein-coding gene	gene with protein product		603268				9601056	Standard	NM_003635		Approved	NST2, HSST2	uc001jvk.2	P52849	OTTHUMG00000018489	ENST00000309979.6:c.2084G>A	10.37:g.75563390C>T	ENSP00000310657:p.Arg695Gln					NDST2_ENST00000309979.6_Missense_Mutation_p.R695Q	p.R572Q	NM_003635.3	NP_003626.1	P52849	NDST2_HUMAN			12	2685	-	Prostate(51;0.0112)		695			Heparan sulfate N-deacetylase 2.		Q2TB32|Q59H89	Missense_Mutation	SNP	ENST00000309979.6	37	c.1715G>A	CCDS7335.1	.	.	.	.	.	.	.	.	.	.	C	24.7	4.558634	0.86231	.	.	ENSG00000166507	ENST00000309979;ENST00000299641	T;T	0.53640	0.61;0.61	5.95	5.95	0.96441	Sulfotransferase domain (1);	0.000000	0.85682	D	0.000000	T	0.50051	0.1593	L	0.41710	1.295	0.58432	D	0.999994	B;P;P;P	0.51147	0.282;0.483;0.942;0.896	B;B;P;P	0.46659	0.067;0.125;0.523;0.506	T	0.47812	-0.9088	10	0.54805	T	0.06	.	20.3854	0.98941	0.0:1.0:0.0:0.0	.	572;365;218;695	B4E139;B4DQU1;B4DE98;P52849	.;.;.;NDST2_HUMAN	Q	695;572	ENSP00000310657:R695Q;ENSP00000299641:R572Q	ENSP00000299641:R572Q	R	-	2	0	NDST2	75233396	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.780000	0.55386	2.825000	0.97269	0.655000	0.94253	CGA		0.557	NDST2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048710.1	NM_003635		16	97	0	0	0	1	0	16	97					T	75563390	C	T	75563390	3	4	94	1	0	0	0	0	1	0	0	0	10256	884	31	2	587	2	NDST2	10	75563390	Missense_Mutation	SNP	C	TCGA-EJ-7782-01A-11D-2114-08	4883703	75563390	59971357	251	5070											
TNKS2	80351	broad.mit.edu	37	chr10	93572757	93572757	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	taggttttgggcggaaagacGtagttgaatatttgcttcag	10	14	13	4	2	1	2	1	1	0	1	1	3	1	3	0	3	1	4	0	3	5	8			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr10:93572757G>A	ENST00000371627.4	+	2	596	c.217G>A	c.(217-219)Gta>Ata	p.V73I		NM_025235.3	NP_079511.1	Q9H2K2	TNKS2_HUMAN	tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase 2	73					multicellular organism growth (GO:0035264)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of telomere maintenance via telomerase (GO:0032212)|protein ADP-ribosylation (GO:0006471)|protein auto-ADP-ribosylation (GO:0070213)|protein localization to chromosome, telomeric region (GO:0070198)|protein polyubiquitination (GO:0000209)|regulation of multicellular organism growth (GO:0040014)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nuclear chromosome, telomeric region (GO:0000784)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)|pericentriolar material (GO:0000242)|perinuclear region of cytoplasm (GO:0048471)	enzyme binding (GO:0019899)|metal ion binding (GO:0046872)|NAD+ ADP-ribosyltransferase activity (GO:0003950)			biliary_tract(1)|breast(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	48		Colorectal(252;0.162)				GCGGAAAGACGTAGTTGAATA	0.383																																						ENST00000371627.4																			0				biliary_tract(1)|breast(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	48						c.(217-219)Gta>Ata		tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase 2							182	161	168					10																	93572757		2203	4300	6503	SO:0001583	missense	80351				positive regulation of canonical Wnt receptor signaling pathway|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein polyubiquitination|Wnt receptor signaling pathway	Golgi membrane|microsome|nuclear envelope|pericentriolar material|perinuclear region of cytoplasm	NAD+ ADP-ribosyltransferase activity|protein binding	g.chr10:93572757G>A	AF342982	CCDS7417.1	10q23.3	2013-01-10			ENSG00000107854	ENSG00000107854		"Poly (ADP-ribose) polymerases", "Sterile alpha motif (SAM) domain containing", "Ankyrin repeat domain containing"	15677	protein-coding gene	gene with protein product		607128					Standard	NM_025235		Approved	TNKL, TANK2, PARP-5b, PARP-5c, PARP5B, PARP5C, pART6	uc001khp.3	Q9H2K2	OTTHUMG00000018747	ENST00000371627.4:c.217G>A	10.37:g.93572757G>A	ENSP00000360689:p.Val73Ile						p.V73I	NM_025235.3	NP_079511.1	Q9H2K2	TNKS2_HUMAN			2	596	+		Colorectal(252;0.162)	73					B2RBD3|Q9H8F2|Q9HAS4	Missense_Mutation	SNP	ENST00000371627.4	37	c.217G>A	CCDS7417.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.123010	0.77436	.	.	ENSG00000107854	ENST00000371627	T	0.62498	0.02	5.79	5.79	0.91817	Ankyrin repeat-containing domain (4);	0.000000	0.49916	D	0.000140	T	0.44222	0.1283	N	0.02985	-0.445	0.58432	D	0.999999	B	0.25667	0.131	B	0.28638	0.092	T	0.43147	-0.9409	10	0.45353	T	0.12	.	20.0313	0.97540	0.0:0.0:1.0:0.0	.	73	Q9H2K2	TNKS2_HUMAN	I	73	ENSP00000360689:V73I	ENSP00000360689:V73I	V	+	1	0	TNKS2	93562737	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.722000	0.98770	2.746000	0.94184	0.655000	0.94253	GTA		0.383	TNKS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049374.1	NM_025235		8	72	0	0	0	1	0	8	72					A	93572757	G	A	93572757	3	1	94	1	0	0	0	0	1	0	0	0	16318	1145	40	1	223	1	TNKS2	10	93572757	Missense_Mutation	SNP	G	TCGA-EJ-7782-01A-11D-2114-08	18009367	93572757	41961990	252	5071											
BTAF1	9044	broad.mit.edu	37	chr10	93768864	93768864	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttccttagtggtttgtccGccaacattaacaggccattg	8	13	8	12	1	0	0	0	0	0	0	2	0	2	0	5	2	2	1	5	2	3	5			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr10:93768864G>A	ENST00000265990.6	+	28	4310	c.4002G>A	c.(4000-4002)ccG>ccA	p.P1334P	BTAF1_ENST00000544642.1_Silent_p.P162P	NM_003972.2	NP_003963.1	O14981	BTAF1_HUMAN	BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170kDa	1334	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				negative regulation of chromatin binding (GO:0035562)|negative regulation of transcription, DNA-templated (GO:0045892)	nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.P1334P(1)		central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(6)	59		Colorectal(252;0.0846)				TGGTTTGTCCGCCAACATTAA	0.408																																						ENST00000265990.6																			1	Substitution - coding silent(1)	p.P1334P(1)	lung(1)	central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(6)	59						c.(4000-4002)ccG>ccA		BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170kDa							115	103	107					10																	93768864		2203	4300	6503	SO:0001819	synonymous_variant	9044				negative regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|helicase activity|sequence-specific DNA binding transcription factor activity	g.chr10:93768864G>A	AJ001017	CCDS7419.1	10q22-q23	2013-05-01	2013-05-01		ENSG00000095564	ENSG00000095564			17307	protein-coding gene	gene with protein product	"Mot1 homolog (S. cerevisiae)"	605191	"BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170 kD (Mot1 homolog, S. cerevisiae)"			9342322, 9488487	Standard	NM_003972		Approved	TAFII170, TAF172, MOT1, TAF-172, TAF(II)170	uc001khr.3	O14981	OTTHUMG00000018752	ENST00000265990.6:c.4002G>A	10.37:g.93768864G>A						BTAF1_ENST00000544642.1_Silent_p.P162P	p.P1334P	NM_003972.2	NP_003963.1	O14981	BTAF1_HUMAN			28	4310	+		Colorectal(252;0.0846)	1334			Helicase ATP-binding.		B4E0W6|O43578	Silent	SNP	ENST00000265990.6	37	c.4002G>A	CCDS7419.1																																																																																				0.408	BTAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049380.4	NM_003972		21	47	0	0	0	1	0	21	47					A	93768864	G	A	93768864	2	1	94	1	0	0	0	0	0	0	0	1	1536	1074	38	1		1	BTAF1	10	93768864	Silent	SNP	G	TCGA-EJ-7782-01A-11D-2114-08	196107	93768864	41765883	253	5072											
PLCE1	51196	broad.mit.edu	37	chr10	96081787	96081787	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagtcatcaaagcaccccgcGtcagcactgcacaggatgtc	11	6	9	15	2	3	0	3	0	0	0	4	1	3	1	2	1	3	3	2	1	1	0	rs200549010		TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr10:96081787G>A	ENST00000371380.3	+	29	6707	c.6472G>A	c.(6472-6474)Gtc>Atc	p.V2158I	PLCE1_ENST00000371385.3_Missense_Mutation_p.V1850I|NOC3L_ENST00000543788.1_Intron|PLCE1_ENST00000260766.3_Missense_Mutation_p.V2158I|PLCE1_ENST00000371375.1_Missense_Mutation_p.V1850I			Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1	2158	Ras-associating 2. {ECO:0000255|PROSITE- ProRule:PRU00166}.				activation of MAPK activity (GO:0000187)|calcium-mediated signaling (GO:0019722)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|diacylglycerol biosynthetic process (GO:0006651)|epidermal growth factor receptor signaling pathway (GO:0007173)|glomerulus development (GO:0032835)|heart development (GO:0007507)|inositol phosphate metabolic process (GO:0043647)|inositol phosphate-mediated signaling (GO:0048016)|lipid catabolic process (GO:0016042)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|phospholipid metabolic process (GO:0006644)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of GTPase activity (GO:0043547)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|Ras protein signal transduction (GO:0007265)|regulation of cell growth (GO:0001558)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of protein kinase activity (GO:0045859)|regulation of Ras protein signal transduction (GO:0046578)|regulation of smooth muscle contraction (GO:0006940)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|enzyme binding (GO:0019899)|guanyl-nucleotide exchange factor activity (GO:0005085)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|Ras GTPase binding (GO:0017016)|receptor signaling protein activity (GO:0005057)			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				AGCACCCCGCGTCAGCACTGC	0.478																																						ENST00000260766.3																			0				liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8						c.(6472-6474)Gtc>Atc		phospholipase C, epsilon 1							101	104	103					10																	96081787		2078	4220	6298	SO:0001583	missense	51196				activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction	cytosol|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity	g.chr10:96081787G>A		CCDS41552.1, CCDS53555.1	10q23	2010-02-22			ENSG00000138193	ENSG00000138193	3.1.4.11		17175	protein-coding gene	gene with protein product	"nephrosis type 3"	608414				11022047, 11022048	Standard	NM_016341		Approved	KIAA1516, PLCE, NPHS3	uc001kjk.3	Q9P212	OTTHUMG00000018789	ENST00000371380.3:c.6472G>A	10.37:g.96081787G>A	ENSP00000360431:p.Val2158Ile					PLCE1_ENST00000371380.2_Missense_Mutation_p.V2158I|NOC3L_ENST00000543788.1_Intron|PLCE1_ENST00000371375.1_Missense_Mutation_p.V1850I|PLCE1_ENST00000371385.3_Missense_Mutation_p.V1850I	p.V2158I	NM_016341.3	NP_057425.3	Q9P212	PLCE1_HUMAN			30	7106	+		Colorectal(252;0.0458)	2158			Ras-associating 2.		A6NGW0|A6NLA1|A7MBN7|A8K1D7|B9EIJ6|Q1X6H8|Q5VWL4|Q5VWL5|Q9H9X8|Q9HBX6|Q9HC53|Q9UHV3	Missense_Mutation	SNP	ENST00000371380.3	37	c.6472G>A	CCDS41552.1	.	.	.	.	.	.	.	.	.	.	G	12.18	1.861629	0.32884	.	.	ENSG00000138193	ENST00000260766;ENST00000371380;ENST00000371385;ENST00000371375	T;T;T;T	0.17854	2.25;2.25;2.25;2.25	6.02	2.04	0.26737	Ras-association (3);	0.219672	0.40144	N	0.001167	T	0.08758	0.0217	N	0.22421	0.69	0.53688	D	0.999975	B;B;B	0.23937	0.094;0.036;0.094	B;B;B	0.25884	0.064;0.023;0.064	T	0.25047	-1.0143	10	0.22706	T	0.39	.	3.0153	0.06058	0.1309:0.2977:0.3761:0.1953	.	2142;1850;2158	B7ZM61;Q9P212-2;Q9P212	.;.;PLCE1_HUMAN	I	2158;2158;1850;1850	ENSP00000260766:V2158I;ENSP00000360431:V2158I;ENSP00000360438:V1850I;ENSP00000360426:V1850I	ENSP00000260766:V2158I	V	+	1	0	PLCE1	96071777	0.984000	0.35163	0.453000	0.27007	0.908000	0.53690	1.943000	0.40253	0.457000	0.26962	-0.150000	0.13652	GTC		0.478	PLCE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049469.3	NM_016341		14	23	0	0	0	1	0	14	23					A	96081787	G	A	96081787	3	1	94	1	0	0	0	0	1	0	0	0	12034	1145	40	1	6872	1	PLCE1	10	96081787	Missense_Mutation	SNP	G	TCGA-EJ-7782-01A-11D-2114-08	2312923	96081787	39452960	254	5073											
CWF19L1	55280	broad.mit.edu	37	chr10	101995439	101995439	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cataccttccaaactgcaaaGgaaaattctttttaattctg	14	14	4	9	0	2	0	0	0	2	0	3	1	3	1	2	1	3	1	2	1	6	7			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr10:101995439G>T	ENST00000354105.4	-	13	1543	c.1457C>A	c.(1456-1458)cCt>cAt	p.P486H	RP11-316M21.6_ENST00000444359.1_RNA|CWF19L1_ENST00000370379.1_Missense_Mutation_p.P201H|CWF19L1_ENST00000478047.1_5'UTR|SNORA12_ENST00000391162.1_RNA	NM_018294.4	NP_060764.3	Q69YN2	C19L1_HUMAN	CWF19-like 1, cell cycle control (S. pombe)	486							catalytic activity (GO:0003824)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(4)|pancreas(1)|prostate(1)|stomach(2)	17		Colorectal(252;0.117)		Epithelial(162;3.78e-10)|all cancers(201;3.1e-08)		AAACTGCAAAGGAAAATTCTT	0.363																																						ENST00000354105.4																			0				cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(4)|pancreas(1)|prostate(1)|stomach(2)	17						c.(1456-1458)cCt>cAt		CWF19-like 1, cell cycle control (S. pombe)							70	68	69					10																	101995439		2203	4300	6503	SO:0001583	missense	55280						catalytic activity	g.chr10:101995439G>T	AK001860	CCDS7489.1	10q24.31	2008-11-24			ENSG00000095485	ENSG00000095485			25613	protein-coding gene	gene with protein product						14702039	Standard	NM_018294		Approved	FLJ10998	uc001kqq.1	Q69YN2	OTTHUMG00000018901	ENST00000354105.4:c.1457C>A	10.37:g.101995439G>T	ENSP00000326411:p.Pro486His					CWF19L1_ENST00000478047.1_5'UTR|CWF19L1_ENST00000370379.1_Missense_Mutation_p.P201H	p.P486H	NM_018294.4	NP_060764.3	Q69YN2	C19L1_HUMAN		Epithelial(162;3.78e-10)|all cancers(201;3.1e-08)	13	1543	-		Colorectal(252;0.117)	486					B4DHX1|D3DR66|Q5W0I3|Q96HC3|Q9H865|Q9NV13	Missense_Mutation	SNP	ENST00000354105.4	37	c.1457C>A	CCDS7489.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.212940	0.79352	.	.	ENSG00000095485	ENST00000354105;ENST00000370379	T;T	0.34859	1.34;1.34	5.29	5.29	0.74685	Cwf19-like protein, C-terminal domain-2 (1);	0.000000	0.85682	D	0.000000	T	0.63034	0.2477	M	0.81239	2.535	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.993;0.997;0.999	T	0.66176	-0.5989	10	0.54805	T	0.06	-10.8848	16.4413	0.83901	0.0:0.0:1.0:0.0	.	190;349;486	Q69YN2-2;Q69YN2-3;Q69YN2	.;.;C19L1_HUMAN	H	486;201	ENSP00000326411:P486H;ENSP00000359405:P201H	ENSP00000326411:P486H	P	-	2	0	CWF19L1	101985429	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.059000	0.93902	2.490000	0.84030	0.563000	0.77884	CCT		0.363	CWF19L1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_018294		5	23	1	0	1	1	1	5	23					T	101995439	G	T	101995439	3	4	94	1	0	0	0	0	1	0	0	0	4071	1000	35	5	167	5	CWF19L1	10	101995439	Missense_Mutation	SNP	G	TCGA-EJ-7782-01A-11D-2114-08	5913652	101995439	33539308	255	5074											
SEMA4G	57715	broad.mit.edu	37	chr10	102737391	102737391	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctccacctcatcccacagacGgagtgctttaaccatgtgcg	9	9	8	15	2	1	1	1	0	0	1	3	2	3	2	4	1	3	1	4	1	1	2	rs368885285		TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr10:102737391G>A	ENST00000370250.4	+	4	712	c.339G>A	c.(337-339)acG>acA	p.T113T	RP11-108L7.4_ENST00000447344.1_RNA|SEMA4G_ENST00000517724.1_Silent_p.T113T|SEMA4G_ENST00000210633.3_Silent_p.T113T|SEMA4G_ENST00000519756.1_3'UTR|MIR608_ENST00000384820.1_RNA	NM_017893.3	NP_060363.2	Q9NTN9	SEM4G_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4G	113	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			breast(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		Colorectal(252;0.234)		Epithelial(162;3.71e-09)|all cancers(201;2.1e-07)		TCCCACAGACGGAGTGCTTTA	0.572																																						ENST00000210633.3																			0				breast(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						c.(337-339)acG>acA		sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4G		G	,	0,4406		0,0,2203	199	172	181		339,339	-10.6	0.1	10		181	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	SEMA4G	NM_001203244.1,NM_017893.3	,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,	113/703,113/844	102737391	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	57715				cell differentiation|nervous system development	integral to membrane	receptor activity	g.chr10:102737391G>A	AB046839	CCDS7501.1, CCDS55724.1	10q24.31	2013-01-11			ENSG00000095539	ENSG00000095539		"Semaphorins", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	10735	protein-coding gene	gene with protein product							Standard	NM_017893		Approved	FLJ20590, KIAA1619	uc001krw.2	Q9NTN9	OTTHUMG00000018922	ENST00000370250.4:c.339G>A	10.37:g.102737391G>A						SEMA4G_ENST00000519756.1_3'UTR|SEMA4G_ENST00000517724.1_Silent_p.T113T|SEMA4G_ENST00000370250.4_Silent_p.T113T	p.T113T			Q9NTN9	SEM4G_HUMAN		Epithelial(162;3.71e-09)|all cancers(201;2.1e-07)	4	417	+		Colorectal(252;0.234)	113			Sema.		A1A5C6|A6NJY8|Q58EY1|Q9HCF3	Silent	SNP	ENST00000370250.4	37	c.339G>A																																																																																					0.572	SEMA4G-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000049920.2			29	56	0	0	0	1	0	29	56					A	102737391	G	A	102737391	2	1	94	1	0	0	0	0	0	0	0	1	14036	1103	39	2		2	SEMA4G	10	102737391	Silent	SNP	G	TCGA-EJ-7782-01A-11D-2114-08	741952	102737391	32797356	256	5075											
LDB1	8861	broad.mit.edu	37	chr10	103867967	103867967	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgttaaagctgtcctcgtcGtcaatgccgttggctgcgtc	5	14	11	11	4	1	0	1	0	0	0	5	0	2	0	2	1	3	4	2	1	3	3			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr10:103867967G>A	ENST00000425280.1	-	11	1461	c.1119C>T	c.(1117-1119)gaC>gaT	p.D373D	LDB1_ENST00000490751.1_5'Flank|LDB1_ENST00000361198.5_Silent_p.D337D	NM_001113407.1	NP_001106878.1	Q86U70	LDB1_HUMAN	LIM domain binding 1	373	LIM-binding domain (LID). {ECO:0000250}.				anterior/posterior axis specification (GO:0009948)|cellular component assembly (GO:0022607)|cerebellar Purkinje cell differentiation (GO:0021702)|epithelial structure maintenance (GO:0010669)|gastrulation with mouth forming second (GO:0001702)|hair follicle development (GO:0001942)|head development (GO:0060322)|histone H3-K4 acetylation (GO:0043973)|multicellular organismal development (GO:0007275)|negative regulation of erythrocyte differentiation (GO:0045647)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron differentiation (GO:0030182)|positive regulation of cell adhesion (GO:0045785)|positive regulation of hemoglobin biosynthetic process (GO:0046985)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of DNA-templated transcription, elongation (GO:0032784)|regulation of transcription, DNA-templated (GO:0006355)|somatic stem cell maintenance (GO:0035019)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)|transcription-dependent tethering of RNA polymerase II gene DNA at nuclear periphery (GO:0000972)|Wnt signaling pathway (GO:0016055)	nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|protein complex (GO:0043234)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|enhancer sequence-specific DNA binding (GO:0001158)|enzyme binding (GO:0019899)|LIM domain binding (GO:0030274)|protein homodimerization activity (GO:0042803)|RNA polymerase II activating transcription factor binding (GO:0001102)|transcription corepressor activity (GO:0003714)	p.D373D(1)|p.D337D(1)		breast(1)|central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(1)|skin(1)	21		Colorectal(252;0.122)		Epithelial(162;1.11e-07)|all cancers(201;1.82e-06)		TGTCCTCGTCGTCAATGCCGT	0.622																																						ENST00000361198.5																			2	Substitution - coding silent(2)	p.D373D(1)|p.D337D(1)	endometrium(2)	breast(1)|central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(1)|skin(1)	21						c.(1009-1011)gaC>gaT		LIM domain binding 1							193	151	165					10																	103867967		2203	4300	6503	SO:0001819	synonymous_variant	8861				histone H3-K4 acetylation|negative regulation of erythrocyte differentiation|negative regulation of transcription, DNA-dependent|positive regulation of hemoglobin biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription elongation, DNA-dependent|transcription, DNA-dependent|transcription-dependent tethering of RNA polymerase II gene DNA at nuclear periphery	nuclear chromatin|protein complex	LIM domain binding|protein homodimerization activity|transcription corepressor activity	g.chr10:103867967G>A	AF068652	CCDS7528.1, CCDS44472.1	10q24-q25	2008-08-01			ENSG00000198728	ENSG00000198728			6532	protein-coding gene	gene with protein product	"carboxy terminal LIM domain protein 2"	603451				9503020, 9799849	Standard	NM_003893		Approved	NLI, CLIM2	uc009xwz.3	Q86U70	OTTHUMG00000018950	ENST00000425280.1:c.1119C>T	10.37:g.103867967G>A						LDB1_ENST00000425280.1_Silent_p.D373D	p.D337D	NM_003893.4	NP_003884.1	Q86U70	LDB1_HUMAN		Epithelial(162;1.11e-07)|all cancers(201;1.82e-06)	11	1634	-		Colorectal(252;0.122)	373			LIM-binding domain (LID) (By similarity).		B4DUC4|O75479|O96010|Q1EQX1|Q9UGM4	Silent	SNP	ENST00000425280.1	37	c.1011C>T	CCDS44472.1																																																																																				0.622	LDB1-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_001113407		5	67	0	0	0	1	0	5	67					A	103867967	G	A	103867967	2	1	94	1	0	0	0	0	0	0	0	1	8695	1136	40	1		1	LDB1	10	103867967	Silent	SNP	G	TCGA-EJ-7782-01A-11D-2114-08	1130576	103867967	31666780	257	5076											
EMX2	2018	broad.mit.edu	37	chr10	119303006	119303006	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtgttcgccgaggcggtctcGcacccgcccaaccccgccgt	4	6	12	19	7	1	0	0	0	1	0	3	1	1	0	6	2	1	2	6	2	1	1			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr10:119303006G>A	ENST00000553456.3	+	1	1052	c.228G>A	c.(226-228)tcG>tcA	p.S76S	EMX2OS_ENST00000551288.1_RNA|EMX2_ENST00000442245.4_Silent_p.S76S|EMX2OS_ENST00000440007.1_RNA|EMX2OS_ENST00000450314.2_RNA	NM_004098.3	NP_004089.1	Q04743	EMX2_HUMAN	empty spiracles homeobox 2	76					anterior/posterior pattern specification (GO:0009952)|cell proliferation in forebrain (GO:0021846)|cerebral cortex regionalization (GO:0021796)|dentate gyrus development (GO:0021542)|forebrain cell migration (GO:0021885)|neuron differentiation (GO:0030182)|regulation of transcription, DNA-templated (GO:0006355)|renal system development (GO:0072001)|response to drug (GO:0042493)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			endometrium(2)|large_intestine(5)|lung(2)|ovary(1)|prostate(2)	12		Colorectal(252;0.109)|Lung NSC(174;0.179)|all_lung(145;0.22)		all cancers(201;0.0133)		AGGCGGTCTCGCACCCGCCCA	0.726																																						ENST00000553456.3																			0				endometrium(2)|large_intestine(5)|lung(2)|ovary(1)|prostate(2)	12						c.(226-228)tcG>tcA		empty spiracles homeobox 2							11	14	13					10																	119303006		2180	4218	6398	SO:0001819	synonymous_variant	2018					nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr10:119303006G>A	AF301598	CCDS7601.1, CCDS53583.1	10q26.11	2011-06-20	2007-02-15		ENSG00000170370	ENSG00000170370		"Homeoboxes / ANTP class : NKL subclass"	3341	protein-coding gene	gene with protein product		600035	"empty spiracles homolog 2 (Drosophila)"			7959790	Standard	NM_004098		Approved		uc001ldh.4	Q04743	OTTHUMG00000019123	ENST00000553456.3:c.228G>A	10.37:g.119303006G>A						EMX2_ENST00000442245.4_Silent_p.S76S|EMX2OS_ENST00000551288.1_RNA	p.S76S	NM_004098.3	NP_004089.1	Q04743	EMX2_HUMAN		all cancers(201;0.0133)	1	1052	+		Colorectal(252;0.109)|Lung NSC(174;0.179)|all_lung(145;0.22)	76					G3V305|Q96NN8|Q9BQF4	Silent	SNP	ENST00000553456.3	37	c.228G>A	CCDS7601.1																																																																																				0.726	EMX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050569.4	NM_004098		3	12	0	0	0	1	0	3	12					A	119303006	G	A	119303006	2	1	94	1	0	0	0	0	0	0	0	1	5108	1074	38	1		1	EMX2	10	119303006	Silent	SNP	G	TCGA-EJ-7782-01A-11D-2114-08	15435039	119303006	16231741	258	5077											
MKI67	4288	broad.mit.edu	37	chr10	129899559	129899559	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cacacctcttgacactccgcGttactctctgcacagatttg	8	12	6	15	2	2	2	0	1	2	1	4	2	3	2	2	0	2	2	2	0	1	3	rs372006869		TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr10:129899559G>A	ENST00000368654.3	-	14	10043	c.9668C>T	c.(9667-9669)aCg>aTg	p.T3223M	MKI67_ENST00000368653.3_Missense_Mutation_p.T2863M	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	3223					cell proliferation (GO:0008283)|cellular response to heat (GO:0034605)|DNA metabolic process (GO:0006259)|hyaluronan metabolic process (GO:0030212)|meiotic nuclear division (GO:0007126)|organ regeneration (GO:0031100)|response to organic cyclic compound (GO:0014070)	chromosome, centromeric region (GO:0000775)|condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				GACACTCCGCGTTACTCTCTG	0.433																																						ENST00000368654.3																			0				NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159						c.(9667-9669)aCg>aTg		marker of proliferation Ki-67		G	MET/THR,MET/THR	1,4405	2.1+/-5.4	0,1,2202	136	125	129		8588,9668	1.6	0	10		129	0,8600		0,0,4300	no	missense,missense	MKI67	NM_001145966.1,NM_002417.4	81,81	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging	2863/2897,3223/3257	129899559	1,13005	2203	4300	6503	SO:0001583	missense	4288				cell proliferation	nucleolus	ATP binding|protein C-terminus binding	g.chr10:129899559G>A	X65550	CCDS7659.1, CCDS53588.1	10q26.2	2014-06-12	2013-10-10		ENSG00000148773	ENSG00000148773			7107	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 105"	176741	"antigen identified by monoclonal antibody Ki-67"			2571566, 16206250	Standard	NM_002417		Approved	MIB-, PPP1R105	uc001lke.3	P46013	OTTHUMG00000019255	ENST00000368654.3:c.9668C>T	10.37:g.129899559G>A	ENSP00000357643:p.Thr3223Met					MKI67_ENST00000368653.3_Missense_Mutation_p.T2863M	p.T3223M	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN			14	10043	-		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)	3223					Q5VWH2	Missense_Mutation	SNP	ENST00000368654.3	37	c.9668C>T	CCDS7659.1	.	.	.	.	.	.	.	.	.	.	G	7.300	0.612871	0.14066	2.27E-4	0.0	ENSG00000148773	ENST00000368654;ENST00000368653;ENST00000537609	T;T	0.03330	4.01;3.97	3.43	1.57	0.23409	.	0.496991	0.17099	N	0.187079	T	0.02649	0.0080	L	0.27053	0.805	0.09310	N	1	P;P	0.50443	0.935;0.893	B;B	0.40864	0.342;0.142	T	0.46992	-0.9151	10	0.46703	T	0.11	.	4.9028	0.13782	0.1202:0.2184:0.6614:0.0	.	2863;3223	P46013-2;P46013	.;KI67_HUMAN	M	3223;2863;3222	ENSP00000357643:T3223M;ENSP00000357642:T2863M	ENSP00000357642:T2863M	T	-	2	0	MKI67	129789549	0.010000	0.17322	0.000000	0.03702	0.000000	0.00434	0.993000	0.29680	0.458000	0.26988	-0.150000	0.13652	ACG		0.433	MKI67-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050999.1	NM_002417		7	74	0	0	0	1	0	7	74					A	129899559	G	A	129899559	3	1	94	1	0	0	0	0	1	0	0	0	9598	1145	40	1	110	1	MKI67	10	129899559	Missense_Mutation	SNP	G	TCGA-EJ-7782-01A-11D-2114-08	10596553	129899559	5635188	259	5078											
JAKMIP3	282973	broad.mit.edu	37	chr10	133976844	133976844	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagcagtggaagcgccaggtCatgagtgagctgcgcgagcg	9	5	18	9	4	1	2	1	2	0	0	1	5	1	3	1	2	5	2	1	2	1	0	rs143722443		TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr10:133976844C>A	ENST00000298622.4	+	19	2484	c.2346C>A	c.(2344-2346)gtC>gtA	p.V782V	JAKMIP3_ENST00000477275.1_3'UTR	NM_001105521.2	NP_001098991.1	Q5VZ66	JKIP3_HUMAN	Janus kinase and microtubule interacting protein 3	782						Golgi apparatus (GO:0005794)				breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	31		all_cancers(35;5.63e-09)|all_epithelial(44;9.25e-07)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|Colorectal(31;0.0721)|all_neural(114;0.0726)|Breast(234;0.0949)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;0.000104)|Epithelial(32;0.000142)|all cancers(32;0.000185)|BRCA - Breast invasive adenocarcinoma(275;0.224)		AGCGCCAGGTCATGAGTGAGC	0.687																																						ENST00000298622.4																			0				breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	31						c.(2344-2346)gtC>gtA		Janus kinase and microtubule interacting protein 3							57	41	47					10																	133976844		2202	4298	6500	SO:0001819	synonymous_variant	282973							g.chr10:133976844C>A	AL832756	CCDS44494.1	10q26.3	2009-04-23	2009-04-23	2008-01-28	ENSG00000188385	ENSG00000188385			23523	protein-coding gene	gene with protein product	"neuroendocrine long coiled-coil 2"	611198	"chromosome 10 open reading frame 39", "chromosome 10 open reading frame 14"	C10orf39, C10orf14		15277531, 17572408	Standard	NM_001105521		Approved	FLJ37857, NECC2, KIAA4091, bA140A10.5	uc001lkx.4	Q5VZ66	OTTHUMG00000150167	ENST00000298622.4:c.2346C>A	10.37:g.133976844C>A						JAKMIP3_ENST00000477275.1_3'UTR	p.V782V	NM_001105521.2	NP_001098991.1				OV - Ovarian serous cystadenocarcinoma(35;0.000104)|Epithelial(32;0.000142)|all cancers(32;0.000185)|BRCA - Breast invasive adenocarcinoma(275;0.224)	19	2484	+		all_cancers(35;5.63e-09)|all_epithelial(44;9.25e-07)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|Colorectal(31;0.0721)|all_neural(114;0.0726)|Breast(234;0.0949)|Glioma(114;0.172)|Melanoma(40;0.175)						A6PW00|Q69YM6|Q6ZT29	Silent	SNP	ENST00000298622.4	37	c.2346C>A	CCDS44494.1																																																																																				0.687	JAKMIP3-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051049.3	NM_194303		3	9	1	0	0.004672	1	0.00471798	3	9					A	133976844	C	A	133976844	2	1	94	1	0	0	0	0	0	0	0	1	7942	813	29	5		5	JAKMIP3	10	133976844	Silent	SNP	C	TCGA-EJ-7782-01A-11D-2114-08	4077285	133976844	1557903	260	5079											
DUSP8	1850	broad.mit.edu	37	chr11	1578608	1578608	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agccgcattccctgtggcagCgctctctgaggtaggtggtg	5	10	15	11	2	1	1	0	1	1	0	3	1	2	1	2	4	2	4	2	4	1	2			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr11:1578608C>T	ENST00000397374.3	-	7	1145	c.1018G>A	c.(1018-1020)Gct>Act	p.A340T	DUSP8_ENST00000331588.4_Missense_Mutation_p.A340T|DUSP8_ENST00000528778.1_5'Flank	NM_004420.2	NP_004411.2	Q13202	DUS8_HUMAN	dual specificity phosphatase 8	340	Pro-rich.|Tyrosine-protein phosphatase.				inactivation of MAPK activity (GO:0000188)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	MAP kinase tyrosine/serine/threonine phosphatase activity (GO:0017017)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			endometrium(1)|lung(2)|prostate(1)|urinary_tract(1)	5		all_epithelial(84;0.000134)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000621)|Lung(200;0.0687)|LUSC - Lung squamous cell carcinoma(625;0.0825)		CCTGTGGCAGCGCTCTCTGAG	0.796																																						ENST00000397374.3																			0				endometrium(1)|lung(2)|prostate(1)|urinary_tract(1)	5						c.(1018-1020)Gct>Act		dual specificity phosphatase 8							6	8	8					11																	1578608		1542	3432	4974	SO:0001583	missense	1850				inactivation of MAPK activity	cytoplasm|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity	g.chr11:1578608C>T		CCDS7724.1	11p15.5	2011-06-09			ENSG00000184545	ENSG00000184545		"Protein tyrosine phosphatases / Class I Cys-based PTPs : MAP kinase phosphatases"	3074	protein-coding gene	gene with protein product	"serine/threonine specific protein phosphatase", "H1 phosphatase, vaccinia virus homolog"	602038	"chromosome 11 open reading frame 81"	C11orf81		7561881, 9192849	Standard	NM_004420		Approved	HVH-5, HB5, FLJ42958	uc001lts.2	Q13202	OTTHUMG00000133348	ENST00000397374.3:c.1018G>A	11.37:g.1578608C>T	ENSP00000380530:p.Ala340Thr					DUSP8_ENST00000331588.4_Missense_Mutation_p.A340T	p.A340T	NM_004420.2	NP_004411.2	Q13202	DUS8_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.000621)|Lung(200;0.0687)|LUSC - Lung squamous cell carcinoma(625;0.0825)	7	1145	-		all_epithelial(84;0.000134)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	340			Pro-rich.|Tyrosine-protein phosphatase.		Q86SS8	Missense_Mutation	SNP	ENST00000397374.3	37	c.1018G>A	CCDS7724.1	.	.	.	.	.	.	.	.	.	.	C	11.86	1.763684	0.31228	.	.	ENSG00000184545	ENST00000397374;ENST00000331588	T;T	0.02301	4.35;4.35	3.47	1.48	0.22813	.	2.780900	0.02164	N	0.059078	T	0.02012	0.0063	N	0.22421	0.69	0.24118	N	0.995814	P	0.52577	0.954	B	0.36922	0.236	T	0.49960	-0.8883	10	0.20519	T	0.43	.	9.1203	0.36784	0.0:0.8123:0.0:0.1877	.	340	Q13202	DUS8_HUMAN	T	340	ENSP00000380530:A340T;ENSP00000329539:A340T	ENSP00000329539:A340T	A	-	1	0	DUSP8	1535184	0.950000	0.32346	0.985000	0.45067	0.803000	0.45373	2.063000	0.41423	0.659000	0.30945	0.306000	0.20318	GCT		0.796	DUSP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257178.3	NM_004420		3	5	0	0	0	1	0	3	5					T	1578608	C	T	1578608	3	4	94	1	0	0	0	0	1	0	0	0	4831	768	27	1	863	1	DUSP8	11	1578608	Missense_Mutation	SNP	C	TCGA-EJ-7782-01A-11D-2114-08		1578608	133427908	261	5080											
CARS	833	broad.mit.edu	37	chr11	3028112	3028112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agcaagggctcacccaccttCgtggtcttcaaaccgcaccc	9	7	8	17	2	3	0	2	0	1	0	4	0	3	0	4	2	2	3	4	2	2	2			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr11:3028112C>T	ENST00000397111.5	-	18	2142	c.1897G>A	c.(1897-1899)Gaa>Aaa	p.E633K	CARS_ENST00000470221.2_5'UTR|CARS_ENST00000278224.9_Missense_Mutation_p.E633K|CARS_ENST00000380525.4_Missense_Mutation_p.E716K|CARS_ENST00000397114.3_Missense_Mutation_p.E623K|CARS_ENST00000401769.3_Missense_Mutation_p.E646K			P49589	SYCC_HUMAN	cysteinyl-tRNA synthetase	633					cysteinyl-tRNA aminoacylation (GO:0006423)|gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|cysteine-tRNA ligase activity (GO:0004817)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|tRNA binding (GO:0000049)		CARS/ALK(5)	central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)	31		all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)		BRCA - Breast invasive adenocarcinoma(625;0.00317)|LUSC - Lung squamous cell carcinoma(625;0.218)	L-Cysteine(DB00151)	CACCCACCTTCGTGGTCTTCA	0.582			T	ALK	ALCL																																Ovarian(61;932 1157 5961 20446 52152)	ENST00000397114.3				Dom	yes		11	11p15.5	833	T	cysteinyl-tRNA synthetase			L	ALK		ALCL	CARS/ALK(5)	0				central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)	31						c.(1867-1869)Gaa>Aaa		cysteinyl-tRNA synthetase	L-Cysteine(DB00151)						177	170	173					11																	3028112		2202	4298	6500	SO:0001583	missense	833				cysteinyl-tRNA aminoacylation	cytoplasm|cytosol	ATP binding|cysteine-tRNA ligase activity|metal ion binding|protein homodimerization activity|tRNA binding	g.chr11:3028112C>T	AF288207	CCDS7742.1, CCDS41600.1, CCDS41602.1	11p15.5	2011-07-01			ENSG00000110619	ENSG00000110619	6.1.1.16	"Aminoacyl tRNA synthetases / Class I"	1493	protein-coding gene	gene with protein product	"cysteine tRNA ligase 1, cytoplasmic"	123859				8468064	Standard	NM_139273		Approved	CARS1	uc001lxf.3	P49589	OTTHUMG00000010927	ENST00000397111.5:c.1897G>A	11.37:g.3028112C>T	ENSP00000380300:p.Glu633Lys					CARS_ENST00000470221.2_5'UTR|CARS_ENST00000278224.9_Missense_Mutation_p.E633K|CARS_ENST00000397111.5_Missense_Mutation_p.E633K|CARS_ENST00000401769.3_Missense_Mutation_p.E646K|CARS_ENST00000380525.4_Missense_Mutation_p.E716K	p.E623K			P49589	SYCC_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00317)|LUSC - Lung squamous cell carcinoma(625;0.218)	19	2243	-		all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)	633					Q53XI8|Q5HYE4|Q9HD24|Q9HD25	Missense_Mutation	SNP	ENST00000397111.5	37	c.1867G>A	CCDS7742.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.970368	0.74246	.	.	ENSG00000110619	ENST00000380525;ENST00000397111;ENST00000278224;ENST00000397114;ENST00000401769	T;T;T;T;T	0.38401	1.14;1.14;1.14;1.14;1.14	4.42	4.42	0.53409	Aminoacyl-tRNA synthetase, class 1a, anticodon-binding (1);	0.174005	0.50627	D	0.000114	T	0.37517	0.1006	M	0.75447	2.3	0.80722	D	1	B;B;P;P;B;P	0.49696	0.075;0.226;0.776;0.927;0.122;0.602	B;B;B;B;B;B	0.40864	0.018;0.042;0.14;0.342;0.047;0.062	T	0.36553	-0.9743	10	0.13853	T	0.58	.	15.3614	0.74478	0.0:1.0:0.0:0.0	.	646;716;633;633;716;623	B4DKY1;B4DPV7;P49589;P49589-2;Q5HYE4;A8MVQ3	.;.;SYCC_HUMAN;.;.;.	K	716;633;633;623;646	ENSP00000369897:E716K;ENSP00000380300:E633K;ENSP00000278224:E633K;ENSP00000380303:E623K;ENSP00000384069:E646K	ENSP00000278224:E633K	E	-	1	0	CARS	2984688	1.000000	0.71417	0.979000	0.43373	0.904000	0.53231	6.621000	0.74228	2.280000	0.76307	0.462000	0.41574	GAA		0.582	CARS-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000030117.4	NM_001751		7	136	0	0	0	1	0	7	136					T	3028112	C	T	3028112	3	4	94	1	0	0	0	0	1	0	0	0	2657	893	31	2	377	2	CARS	11	3028112	Missense_Mutation	SNP	C	TCGA-EJ-7782-01A-11D-2114-08	1449504	3028112	131978404	262	5081											
OSBPL5	114879	broad.mit.edu	37	chr11	3122887	3122887	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gatgcagaagccgtccttccGgttgctgacgtggaaggcag	8	8	15	10	3	0	2	0	1	0	1	2	4	2	3	3	3	3	4	3	3	2	2			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr11:3122887G>A	ENST00000263650.7	-	13	1627	c.1468C>T	c.(1468-1470)Cgg>Tgg	p.R490W	OSBPL5_ENST00000389989.3_Missense_Mutation_p.R422W|OSBPL5_ENST00000348039.5_Missense_Mutation_p.R422W|OSBPL5_ENST00000542243.1_Missense_Mutation_p.R121W|OSBPL5_ENST00000525498.1_Missense_Mutation_p.R401W	NM_020896.3	NP_065947.1	Q9H0X9	OSBL5_HUMAN	oxysterol binding protein-like 5	490					cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|Golgi to plasma membrane transport (GO:0006893)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	cholesterol binding (GO:0015485)|oxysterol binding (GO:0008142)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	25		all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)		BRCA - Breast invasive adenocarcinoma(625;0.00607)|LUSC - Lung squamous cell carcinoma(625;0.207)		CCGTCCTTCCGGTTGCTGACG	0.632																																						ENST00000263650.7																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	25						c.(1468-1470)Cgg>Tgg		oxysterol binding protein-like 5							67	58	61					11																	3122887		2202	4298	6500	SO:0001583	missense	114879				cholesterol metabolic process|cholesterol transport|Golgi to plasma membrane transport	cytosol	oxysterol binding|protein binding	g.chr11:3122887G>A	AF392453	CCDS31343.1, CCDS31344.1	11p15.4	2013-01-10			ENSG00000021762	ENSG00000021762		"Oxysterol binding proteins", "Pleckstrin homology (PH) domain containing"	16392	protein-coding gene	gene with protein product		606733					Standard	NM_145638		Approved	KIAA1534, ORP5	uc001lxk.2	Q9H0X9	OTTHUMG00000011702	ENST00000263650.7:c.1468C>T	11.37:g.3122887G>A	ENSP00000263650:p.Arg490Trp					OSBPL5_ENST00000348039.5_Missense_Mutation_p.R422W|OSBPL5_ENST00000542243.1_Missense_Mutation_p.R121W|OSBPL5_ENST00000389989.3_Missense_Mutation_p.R422W|OSBPL5_ENST00000525498.1_Missense_Mutation_p.R401W	p.R490W	NM_020896.3	NP_065947.1	Q9H0X9	OSBL5_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00607)|LUSC - Lung squamous cell carcinoma(625;0.207)	13	1627	-		all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)	490					A6NDP0|A6NJS8|Q54A90|Q8N596|Q9BZB0|Q9P1Z4	Missense_Mutation	SNP	ENST00000263650.7	37	c.1468C>T	CCDS31344.1	.	.	.	.	.	.	.	.	.	.	G	15.08	2.728011	0.48833	.	.	ENSG00000021762	ENST00000263650;ENST00000389989;ENST00000534454;ENST00000525498;ENST00000542243;ENST00000348039;ENST00000357352	T;T;T;T;T;T	0.33216	1.42;1.42;1.42;1.42;1.42;1.42	4.16	0.686	0.18015	.	0.070853	0.53938	D	0.000053	T	0.63546	0.2520	H	0.95224	3.64	0.54753	D	0.999982	D;D;D;D	0.89917	1.0;1.0;1.0;0.999	D;D;D;D	0.97110	1.0;1.0;1.0;0.998	T	0.73238	-0.4046	10	0.87932	D	0	-8.4015	12.2365	0.54518	0.0:0.0:0.4426:0.5574	.	401;451;422;490	B4DVB0;E7EP03;Q8N596;Q9H0X9	.;.;.;OSBL5_HUMAN	W	490;422;43;401;121;422;109	ENSP00000263650:R490W;ENSP00000374639:R422W;ENSP00000431412:R43W;ENSP00000433342:R401W;ENSP00000441551:R121W;ENSP00000302872:R422W	ENSP00000263650:R490W	R	-	1	2	OSBPL5	3079463	0.998000	0.40836	0.905000	0.35620	0.258000	0.26162	0.852000	0.27764	0.340000	0.23745	0.555000	0.69702	CGG		0.632	OSBPL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032332.2			10	22	0	0	0	1	0	10	22					A	3122887	G	A	3122887	3	1	94	1	0	0	0	0	1	0	0	0	11280	1115	39	2	1211	2	OSBPL5	11	3122887	Missense_Mutation	SNP	G	TCGA-EJ-7782-01A-11D-2114-08	94775	3122887	131883629	263	5082											
DNHD1	144132	broad.mit.edu	37	chr11	6592024	6592024	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacccgtgtgggttcctgagTctcgaagaggcgcccagctt	6	9	13	13	3	1	2	0	1	1	1	3	3	2	2	3	2	1	2	3	2	1	2			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr11:6592024T>A	ENST00000527990.2	+	40	13282	c.13282T>A	c.(13282-13284)Tct>Act	p.S4428T	DNHD1_ENST00000254579.6_Missense_Mutation_p.S4428T			Q96M86	DNHD1_HUMAN	dynein heavy chain domain 1	4428					microtubule-based movement (GO:0007018)	dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)	microtubule motor activity (GO:0003777)			NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(13)|kidney(6)|large_intestine(11)|lung(14)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	55		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171)		Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		GGTTCCTGAGTCTCGAAGAGG	0.637																																						ENST00000254579.6																			0				NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(13)|kidney(6)|large_intestine(11)|lung(14)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	55						c.(13282-13284)Tct>Act		dynein heavy chain domain 1							25	30	28					11																	6592024		2088	4205	6293	SO:0001583	missense	144132				microtubule-based movement	dynein complex	microtubule motor activity	g.chr11:6592024T>A	AK128064	CCDS44532.1, CCDS7767.1	11p15.4	2011-02-10		2005-11-28	ENSG00000179532	ENSG00000179532			26532	protein-coding gene	gene with protein product			"chromosome 11 open reading frame 47", "dynein heavy chain domain 1-like", "coiled-coil domain containing 35"	DHCD1, C11orf47, DNHD1L, CCDC35		12975309	Standard	NM_173589		Approved	FLJ32752, FLJ46184, FLJ35709, DKFZp686J0796	uc001mdw.4	Q96M86	OTTHUMG00000133403	ENST00000527990.2:c.13282T>A	11.37:g.6592024T>A	ENSP00000436180:p.Ser4428Thr					DNHD1_ENST00000527990.2_Missense_Mutation_p.S4428T	p.S4428T	NM_144666.2	NP_653267.2	Q96M86	DNHD1_HUMAN		Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)	42	13846	+		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171)	4428					Q2NKK8|Q6UWI9|Q8NAA2|Q8TEE6|Q9NSZ9	Missense_Mutation	SNP	ENST00000527990.2	37	c.13282T>A	CCDS44532.1	.	.	.	.	.	.	.	.	.	.	T	11.64	1.699492	0.30142	.	.	ENSG00000179532	ENST00000254579;ENST00000527990;ENST00000530197	T;T	0.27720	1.65;1.65	4.78	-4.76	0.03229	Dynein heavy chain (1);	1.097160	0.07008	N	0.824551	T	0.08537	0.0212	N	0.02011	-0.69	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.0;0.0;0.001	T	0.21861	-1.0233	10	0.22109	T	0.4	1.4957	1.5231	0.02520	0.2406:0.365:0.2306:0.1638	.	3516;480;4428	B0I1S4;Q9NSW8;Q96M86	.;.;DNHD1_HUMAN	T	4428;4428;696	ENSP00000254579:S4428T;ENSP00000436180:S4428T	ENSP00000254579:S4428T	S	+	1	0	DNHD1	6548600	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.084000	0.14891	-0.924000	0.03780	-1.845000	0.00574	TCT		0.637	DNHD1-007	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384673.2	NM_144666		12	18	0	0	0	1	0	12	18					A	6592024	T	A	6592024	3	1	94	1	0	0	0	0	1	0	0	0	4668	1667	58	5	13449	5	DNHD1	11	6592024	Missense_Mutation	SNP	T	TCGA-EJ-7782-01A-11D-2114-08	3469137	6592024	128414492	264	5083											
SWAP70	23075	broad.mit.edu	37	chr11	9749627	9749627	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgatgaaaaagggccacagaCggaaaaactggactgaaaga	19	4	12	6	1	0	5	0	3	0	2	0	7	0	7	1	3	1	0	1	3	5	0			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr11:9749627C>T	ENST00000318950.6	+	5	773	c.670C>T	c.(670-672)Cgg>Tgg	p.R224W	SWAP70_ENST00000447399.2_Missense_Mutation_p.R166W	NM_015055.2	NP_055870.2	Q9UH65	SWP70_HUMAN	SWAP switching B-cell complex 70kDa subunit	224	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				isotype switching (GO:0045190)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|DNA binding (GO:0003677)			NS(1)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|ovary(2)|pancreas(1)	11				all cancers(16;1.21e-10)|Epithelial(150;2.81e-09)|BRCA - Breast invasive adenocarcinoma(625;0.00649)		GGGCCACAGACGGAAAAACTG	0.348																																						ENST00000318950.6																			0				NS(1)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|ovary(2)|pancreas(1)	11						c.(670-672)Cgg>Tgg		SWAP switching B-cell complex 70kDa subunit							106	104	104					11																	9749627		2201	4294	6495	SO:0001583	missense	23075					cytoplasm|lamellipodium|nucleus|plasma membrane	calcium ion binding|DNA binding	g.chr11:9749627C>T	AB014540	CCDS31426.1, CCDS73257.1	11p15	2013-01-10			ENSG00000133789	ENSG00000133789		"Pleckstrin homology (PH) domain containing", "EF-hand domain containing"	17070	protein-coding gene	gene with protein product		604762				9734811, 10681448	Standard	XM_005252829		Approved	KIAA0640, SWAP-70	uc001mhw.3	Q9UH65	OTTHUMG00000165865	ENST00000318950.6:c.670C>T	11.37:g.9749627C>T	ENSP00000315630:p.Arg224Trp					SWAP70_ENST00000447399.2_Missense_Mutation_p.R166W	p.R224W	NM_015055.2	NP_055870.2	Q9UH65	SWP70_HUMAN		all cancers(16;1.21e-10)|Epithelial(150;2.81e-09)|BRCA - Breast invasive adenocarcinoma(625;0.00649)	5	773	+			224			PH.		D3DQV1|O75135|Q7LCY6|Q9P061|Q9P0Z8	Missense_Mutation	SNP	ENST00000318950.6	37	c.670C>T	CCDS31426.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.221408	0.79464	.	.	ENSG00000133789	ENST00000447399;ENST00000318950;ENST00000534662	T;T;T	0.13307	2.6;2.6;2.6	5.97	3.93	0.45458	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.043429	0.85682	D	0.000000	T	0.41627	0.1167	M	0.84511	2.7	0.54753	D	0.999983	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.83275	0.962;0.996;0.985	T	0.45101	-0.9284	10	0.87932	D	0	-22.1796	15.6172	0.76775	0.2664:0.7336:0.0:0.0	.	166;224;166	E7EMB1;Q9UH65;B3KUB9	.;SWP70_HUMAN;.	W	166;224;75	ENSP00000399056:R166W;ENSP00000315630:R224W;ENSP00000435587:R75W	ENSP00000315630:R224W	R	+	1	2	SWAP70	9706203	0.998000	0.40836	0.988000	0.46212	0.995000	0.86356	1.387000	0.34430	2.838000	0.97847	0.561000	0.74099	CGG		0.348	SWAP70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386766.2	NM_015055		5	55	0	0	0	1	0	5	55					T	9749627	C	T	9749627	3	4	94	1	0	0	0	0	1	0	0	0	15422	527	19	1	688	1	SWAP70	11	9749627	Missense_Mutation	SNP	C	TCGA-EJ-7782-01A-11D-2114-08	3157603	9749627	125256889	265	5084											
COPB1	1315	broad.mit.edu	37	chr11	14491076	14491076	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttttcccaaatgcaggatagTagccatgagcaacatagcct	13	10	8	10	0	0	1	0	1	0	0	1	2	1	2	3	1	5	3	3	1	5	5			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr11:14491076T>C	ENST00000249923.3	-	15	2071	c.1771A>G	c.(1771-1773)Act>Gct	p.T591A	COPB1_ENST00000439561.2_Missense_Mutation_p.T591A	NM_016451.4	NP_057535.1	P53618	COPB_HUMAN	coatomer protein complex, subunit beta 1	591					COPI coating of Golgi vesicle (GO:0048205)|intra-Golgi vesicle-mediated transport (GO:0006891)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|viral process (GO:0016032)	COPI vesicle coat (GO:0030126)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi-associated vesicle (GO:0005798)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	36						TGCAGGATAGTAGCCATGAGC	0.398																																						ENST00000249923.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	36						c.(1771-1773)Act>Gct		coatomer protein complex, subunit beta 1							83	79	80					11																	14491076		2200	4294	6494	SO:0001583	missense	1315				COPI coating of Golgi vesicle|interspecies interaction between organisms|intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol|ER-Golgi intermediate compartment|plasma membrane	protein binding|structural molecule activity	g.chr11:14491076T>C	BC037280	CCDS7815.1	11p15.2	2011-05-20	2006-06-30	2006-06-30	ENSG00000129083	ENSG00000129083			2231	protein-coding gene	gene with protein product		600959	"coatomer protein complex, subunit beta"	COPB		7982906	Standard	NM_016451		Approved		uc001mlg.2	P53618	OTTHUMG00000165824	ENST00000249923.3:c.1771A>G	11.37:g.14491076T>C	ENSP00000249923:p.Thr591Ala					COPB1_ENST00000439561.2_Missense_Mutation_p.T591A	p.T591A	NM_016451.4	NP_057535.1	P53618	COPB_HUMAN			15	2071	-			591					D3DQX0|Q6GTT7|Q9NTK2|Q9UNW7	Missense_Mutation	SNP	ENST00000249923.3	37	c.1771A>G	CCDS7815.1	.	.	.	.	.	.	.	.	.	.	T	18.72	3.684676	0.68157	.	.	ENSG00000129083	ENST00000249923;ENST00000439561	T;T	0.12774	2.65;2.65	5.91	5.91	0.95273	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.08447	0.0210	N	0.04508	-0.205	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.23833	-1.0177	10	0.51188	T	0.08	-0.0726	16.3453	0.83126	0.0:0.0:0.0:1.0	.	591	P53618	COPB_HUMAN	A	591	ENSP00000249923:T591A;ENSP00000397873:T591A	ENSP00000249923:T591A	T	-	1	0	COPB1	14447652	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.749000	0.85096	2.261000	0.74972	0.533000	0.62120	ACT		0.398	COPB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386410.1	NM_016451		5	52	0	0	0	1	0	5	52					C	14491076	T	C	14491076	3	2	94	1	0	0	0	0	1	0	0	0	3728	1638	57	4	1122	4	COPB1	11	14491076	Missense_Mutation	SNP	T	TCGA-EJ-7782-01A-11D-2114-08	4741449	14491076	120515440	266	5085											
ABCC8	6833	broad.mit.edu	37	chr11	17428224	17428224	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gcggtgcagtctcttggccaCcttcagccctgtccactcca	5	10	9	17	1	2	0	1	0	1	0	5	0	4	0	5	2	2	1	5	2	0	2			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr11:17428224C>T	ENST00000389817.3	-	26	3342	c.3274G>A	c.(3274-3276)Gtg>Atg	p.V1092M	ABCC8_ENST00000302539.4_Missense_Mutation_p.V1093M			Q09428	ABCC8_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 8	1092	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.				carbohydrate metabolic process (GO:0005975)|energy reserve metabolic process (GO:0006112)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|ion channel binding (GO:0044325)|potassium ion transmembrane transporter activity (GO:0015079)|sulfonylurea receptor activity (GO:0008281)			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Chlorpropamide(DB00672)|Gliclazide(DB01120)|Glimepiride(DB00222)|Glipizide(DB01067)|Gliquidone(DB01251)|Glyburide(DB01016)|Glycodiazine(DB01382)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)|Tolbutamide(DB01124)	CTCTTGGCCACCTTCAGCCCT	0.607																																						ENST00000302539.4																			0				NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						c.(3277-3279)Gtg>Atg		ATP-binding cassette, sub-family C (CFTR/MRP), member 8	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)						135	107	116					11																	17428224		2200	4293	6493	SO:0001583	missense	6833				carbohydrate metabolic process|energy reserve metabolic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity	g.chr11:17428224C>T	L78207	CCDS31437.1, CCDS73264.1	11p15.1	2014-09-17			ENSG00000006071	ENSG00000006071		"ATP binding cassette transporters / subfamily C"	59	protein-coding gene	gene with protein product	"sulfonylurea receptor (hyperinsulinemia)"	600509		SUR, HRINS		7920639, 7716548	Standard	NM_000352		Approved	HI, PHHI, SUR1, MRP8, ABC36, HHF1, TNDM2	uc001mnc.3	Q09428	OTTHUMG00000166316	ENST00000389817.3:c.3274G>A	11.37:g.17428224C>T	ENSP00000374467:p.Val1092Met					ABCC8_ENST00000389817.3_Missense_Mutation_p.V1092M	p.V1093M	NM_000352.3	NP_000343.2	Q09428	ABCC8_HUMAN		READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	26	3402	-			1092			ABC transmembrane type-1 2.		A6NMX8|E3UYX6|O75948|Q16583	Missense_Mutation	SNP	ENST00000389817.3	37	c.3277G>A	CCDS31437.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.649919	0.87958	.	.	ENSG00000006071	ENST00000389817;ENST00000302539	D;D	0.90385	-2.66;-2.66	5.84	5.84	0.93424	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.000000	0.85682	D	0.000000	D	0.93798	0.8017	M	0.79693	2.465	0.58432	D	0.999991	B	0.33171	0.4	P	0.45660	0.489	D	0.93511	0.6853	10	0.87932	D	0	.	17.0674	0.86563	0.0:0.8734:0.1266:0.0	.	1092	Q09428	ABCC8_HUMAN	M	1092;1093	ENSP00000374467:V1092M;ENSP00000303960:V1093M	ENSP00000303960:V1093M	V	-	1	0	ABCC8	17384800	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	4.910000	0.63321	2.756000	0.94617	0.655000	0.94253	GTG		0.607	ABCC8-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000389093.1	NM_000352		13	38	0	0	0	1	0	13	38					T	17428224	C	T	17428224	3	4	94	1	0	0	0	0	1	0	0	0	58	507	18	3	1527	3	ABCC8	11	17428224	Missense_Mutation	SNP	C	TCGA-EJ-7782-01A-11D-2114-08	2937148	17428224	117578292	267	5086											
KCNC1	3746	broad.mit.edu	37	chr11	17793341	17793341	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttcgcaatggcacgcaagtgCgctactaccgggaggccgag	9	6	14	12	5	0	0	0	0	0	0	1	2	0	1	2	3	3	4	2	3	4	3			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr11:17793341C>T	ENST00000379472.3	+	2	730	c.700C>T	c.(700-702)Cgc>Tgc	p.R234C	KCNC1_ENST00000265969.6_Missense_Mutation_p.R234C	NM_004976.4	NP_004967.1	P48547	KCNC1_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 1	234					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|voltage-gated potassium channel activity (GO:0005249)	p.R234C(1)		breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(7)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	33					Dalfampridine(DB06637)	CACGCAAGTGCGCTACTACCG	0.582																																						ENST00000379472.3																			1	Substitution - Missense(1)	p.R234C(1)	upper_aerodigestive_tract(1)	breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(7)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	33						c.(700-702)Cgc>Tgc		potassium voltage-gated channel, Shaw-related subfamily, member 1							263	211	229					11																	17793341		2200	4293	6493	SO:0001583	missense	3746					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr11:17793341C>T	M96747	CCDS7827.1, CCDS44547.1	11p15	2012-07-05			ENSG00000129159	ENSG00000129159		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6233	protein-coding gene	gene with protein product		176258				8449507, 16382104	Standard	NM_004976		Approved	Kv3.1	uc009yhc.1	P48547	OTTHUMG00000166359	ENST00000379472.3:c.700C>T	11.37:g.17793341C>T	ENSP00000368785:p.Arg234Cys					KCNC1_ENST00000265969.6_Missense_Mutation_p.R234C	p.R234C	NM_004976.4	NP_004967.1	P48547	KCNC1_HUMAN			2	730	+			234					K4DI87	Missense_Mutation	SNP	ENST00000379472.3	37	c.700C>T	CCDS7827.1	.	.	.	.	.	.	.	.	.	.	C	13.67	2.307031	0.40795	.	.	ENSG00000129159	ENST00000265969;ENST00000379472	D;D	0.97232	-4.3;-4.3	4.7	4.7	0.59300	.	3.542160	0.01208	N	0.007765	D	0.97504	0.9183	L	0.50333	1.59	0.58432	D	0.999998	D;D	0.76494	0.981;0.999	P;P	0.56216	0.586;0.794	D	0.90736	0.4646	10	0.38643	T	0.18	.	12.7317	0.57201	0.1644:0.8356:0.0:0.0	.	234;234	Q3KNS8;P48547	.;KCNC1_HUMAN	C	234	ENSP00000265969:R234C;ENSP00000368785:R234C	ENSP00000265969:R234C	R	+	1	0	KCNC1	17749917	1.000000	0.71417	1.000000	0.80357	0.861000	0.49209	3.141000	0.50593	2.166000	0.68216	0.505000	0.49811	CGC		0.582	KCNC1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389389.1	NM_004976		23	83	0	0	0	1	0	23	83					T	17793341	C	T	17793341	3	4	94	1	0	0	0	0	1	0	0	0	8014	768	27	1	706	1	KCNC1	11	17793341	Missense_Mutation	SNP	C	TCGA-EJ-7782-01A-11D-2114-08	365117	17793341	117213175	268	5087											
OR5F1	338674	broad.mit.edu	37	chr11	55762087	55762088	+	Frame_Shift_Ins	INS	-	-	T																															actcagtcagtgaggtataaINSttttttctggtcatttatga																										TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr11:55762087_55762088insT	ENST00000278409.1	-	1	13_14	c.14_15insA	c.(13-15)aatfs	p.N5fs		NM_003697.1	NP_003688.1	O95221	OR5F1_HUMAN	olfactory receptor, family 5, subfamily F, member 1	5					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(6)|kidney(1)|large_intestine(11)|liver(1)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	58	Esophageal squamous(21;0.00448)					GTGAGGTATAATTTTTTCTGGT	0.307																																						ENST00000278409.1																			0				endometrium(6)|kidney(1)|large_intestine(11)|liver(1)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	58						c.(13-15)atafs		olfactory receptor, family 5, subfamily F, member 1																																				SO:0001589	frameshift_variant	338674				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55762087_55762088insT	AF065863	CCDS31515.1	11q11	2012-08-09			ENSG00000149133	ENSG00000149133		"GPCR / Class A : Olfactory receptors"	8343	protein-coding gene	gene with protein product		608492				9787077	Standard	NM_003697		Approved	OR11-10	uc010riv.2	O95221	OTTHUMG00000166825	ENST00000278409.1:c.15dupA	11.37:g.55762093_55762093dupT	ENSP00000278409:p.Asn5fs						p.I5fs	NM_003697.1	NP_003688.1	O95221	OR5F1_HUMAN			1	13_14	-	Esophageal squamous(21;0.00448)		5					Q495D1|Q6IFB9	Frame_Shift_Ins	INS	ENST00000278409.1	37	c.14_15insA	CCDS31515.1																																																																																				0.307	OR5F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391532.1	NM_003697		16	44						16	44	---	---	---	---	T	55762088	-	T	55762087	7	5	94	1	0	1	1	0	0	0	0	0	11158	98	4	0	932	0	OR5F1	11	55762087	Frame_Shift_Ins	INS	-	TCGA-EJ-7782-01A-11D-2114-08	37968746	55762087	79244429	269	5088											
OR8J1	219477	broad.mit.edu	37	chr11	56128471	56128471	+	Frame_Shift_Del	DEL	T	T	-																															acatatgatggcagtcacaaTtttttatgggacattgctat																										TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr11:56128471delT	ENST00000303039.3	+	1	781	c.749delT	c.(748-750)attfs	p.I250fs		NM_001005205.2	NP_001005205.2	Q8NGP2	OR8J1_HUMAN	olfactory receptor, family 8, subfamily J, member 1	250						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	47	Esophageal squamous(21;0.00448)					GCAGTCACAATTTTTTATGGG	0.348																																						ENST00000303039.3																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	47						c.(748-750)atfs		olfactory receptor, family 8, subfamily J, member 1							128	115	119					11																	56128471		2201	4296	6497	SO:0001589	frameshift_variant	219477				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56128471delT	AB065748	CCDS31529.1	11q11	2012-08-09			ENSG00000172487	ENSG00000172487		"GPCR / Class A : Olfactory receptors"	14855	protein-coding gene	gene with protein product							Standard	NM_001005205		Approved		uc010rjh.2	Q8NGP2	OTTHUMG00000166859	ENST00000303039.3:c.749delT	11.37:g.56128471delT	ENSP00000304060:p.Ile250fs						p.I250fs	NM_001005205.2	NP_001005205.2	Q8NGP2	OR8J1_HUMAN			1	781	+	Esophageal squamous(21;0.00448)		250					B2RNQ6|B9EH63|Q6IFC2|Q96RC3	Frame_Shift_Del	DEL	ENST00000303039.3	37	c.749delT	CCDS31529.1																																																																																				0.348	OR8J1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391606.2	NM_001005205		8	113						8	113	---	---	---	---	-	56128471	T	-	56128471	7	5	94	1	0	1	0	1	0	0	0	0	11241	1493	52	0	751	0	OR8J1	11	56128471	Frame_Shift_Del	DEL	T	TCGA-EJ-7782-01A-11D-2114-08	366384	56128471	78878045	270	5089											
OR5M11	219487	broad.mit.edu	37	chr11	56310191	56310191	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caagaaagcttaatgagcggCgggtcagcacagtagaagtg	14	6	14	7	2	1	3	1	1	0	2	1	3	1	3	0	2	3	3	0	2	5	2			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr11:56310191C>T	ENST00000528616.2	-	1	566	c.543G>A	c.(541-543)ccG>ccA	p.P181P		NM_001005245.1	NP_001005245.1	Q96RB7	OR5MB_HUMAN	olfactory receptor, family 5, subfamily M, member 11	181						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(14)	18						TAATGAGCGGCGGGTCAGCAC	0.498																																						ENST00000528616.2																			0				central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(14)	18						c.(541-543)ccG>ccA		olfactory receptor, family 5, subfamily M, member 11							46	48	47					11																	56310191		2066	4218	6284	SO:0001819	synonymous_variant	219487				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56310191C>T	AP002517	CCDS53629.1	11q11	2012-08-09				ENSG00000255223		"GPCR / Class A : Olfactory receptors"	15291	protein-coding gene	gene with protein product							Standard	NM_001005245		Approved	OR11-199	uc010rjl.2	Q96RB7		ENST00000528616.2:c.543G>A	11.37:g.56310191C>T							p.P181P	NM_001005245.1	NP_001005245.1	Q96RB7	OR5MB_HUMAN			1	566	-			181					B2RNL5|B2RNL7	Silent	SNP	ENST00000528616.2	37	c.543G>A	CCDS53629.1																																																																																				0.498	OR5M11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391608.1	NM_001005245		6	32	0	0	0	1	0	6	32					T	56310191	C	T	56310191	2	4	94	1	0	0	0	0	0	0	0	1	11174	755	27	1		1	OR5M11	11	56310191	Silent	SNP	C	TCGA-EJ-7782-01A-11D-2114-08	181720	56310191	78696325	271	5090											
MPEG1	219972	broad.mit.edu	37	chr11	58979029	58979029	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agacgaggagagtgcactttCgatgacactccaggtggttg	10	9	14	8	2	0	3	0	1	0	2	2	6	1	3	1	3	1	2	1	3	0	2	rs571774631		TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr11:58979029C>T	ENST00000361050.3	-	1	1395	c.1310G>A	c.(1309-1311)cGa>cAa	p.R437Q	RN7SL42P_ENST00000579786.1_RNA	NM_001039396.1	NP_001034485.1	Q2M385	MPEG1_HUMAN	macrophage expressed 1	437						integral component of membrane (GO:0016021)				NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(21)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		all_epithelial(135;0.125)				AGTGCACTTTCGATGACACTC	0.532													C|||	1	0.000199681	0	0	5008	,	,		18889	0		0.001	False		,,,				2504	0					ENST00000361050.3																			0				NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(21)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						c.(1309-1311)cGa>cAa		macrophage expressed 1							96	89	91					11																	58979029		1961	4159	6120	SO:0001583	missense	219972					integral to membrane		g.chr11:58979029C>T	AK097211	CCDS41650.1	11q12.1	2013-07-31				ENSG00000197629			29619	protein-coding gene	gene with protein product	"macrophage expressed gene 1"	610390				7888681, 23257510	Standard	NM_001039396		Approved	MPG1	uc001nnu.4	Q2M385		ENST00000361050.3:c.1310G>A	11.37:g.58979029C>T	ENSP00000354335:p.Arg437Gln						p.R437Q	NM_001039396.1	NP_001034485.1	Q2M385	MPEG1_HUMAN			1	1395	-		all_epithelial(135;0.125)	437					Q2M1T6|Q8TEF8	Missense_Mutation	SNP	ENST00000361050.3	37	c.1310G>A	CCDS41650.1	.	.	.	.	.	.	.	.	.	.	C	0.033	-1.322931	0.01320	.	.	ENSG00000197629	ENST00000361050	T	0.40756	1.02	5.72	-2.75	0.05914	.	0.879202	0.09961	N	0.733495	T	0.27419	0.0673	L	0.38531	1.155	0.09310	N	1	B	0.22541	0.071	B	0.16722	0.016	T	0.21381	-1.0247	10	0.23891	T	0.37	-1.3979	7.6873	0.28548	0.0:0.3478:0.1153:0.5368	.	437	Q2M385	MPEG1_HUMAN	Q	437	ENSP00000354335:R437Q	ENSP00000354335:R437Q	R	-	2	0	MPEG1	58735605	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.137000	0.10389	-0.903000	0.03881	-1.774000	0.00658	CGA		0.532	MPEG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370027.1	NM_001039396		5	83	0	0	0	1	0	5	83					T	58979029	C	T	58979029	3	4	94	1	0	0	0	0	1	0	0	0	9723	884	31	2	844	2	MPEG1	11	58979029	Missense_Mutation	SNP	C	TCGA-EJ-7782-01A-11D-2114-08	2668838	58979029	76027487	272	5091											
CYBASC3	220002	broad.mit.edu	37	chr11	61120574	61120574	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctgcgcagccacatggacGcccagggcaggaggaagaca	11	2	16	12	2	0	1	0	0	0	1	0	4	0	4	2	5	2	3	2	5	1	0	rs201203629	byFrequency	TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr11:61120574G>A	ENST00000294072.4	-	5	1108	c.431C>T	c.(430-432)gCg>gTg	p.A144V	CYB561A3_ENST00000447532.2_Missense_Mutation_p.A144V|CYB561A3_ENST00000546151.1_Missense_Mutation_p.R88C|CYB561A3_ENST00000536915.1_Missense_Mutation_p.A144V|CYB561A3_ENST00000540317.1_5'UTR|CYB561A3_ENST00000544118.1_Intron|CYB561A3_ENST00000539890.1_Intron|CYB561A3_ENST00000426130.2_Missense_Mutation_p.A161V	NM_001161452.1|NM_153611.4	NP_001154924.1|NP_705839.3	Q8NBI2	CYAC3_HUMAN	cytochrome b561 family, member A3	144	Cytochrome b561. {ECO:0000255|PROSITE- ProRule:PRU00242}.					integral component of membrane (GO:0016021)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)	metal ion binding (GO:0046872)|oxidoreductase activity (GO:0016491)										CCACATGGACGCCCAGGGCAG	0.557													G|||	2	0.000399361	0	0.0014	5008	,	,		19505	0		0.001	False		,,,				2504	0					ENST00000546151.1																			0											c.(262-264)Cgt>Tgt		cytochrome b561 family, member A3							77	59	65					11																	61120574		2203	4299	6502	SO:0001583	missense	220002							g.chr11:61120574G>A	AK024953	CCDS8004.1, CCDS53639.1, CCDS73296.1	11q12.2	2013-03-14	2013-03-14	2013-03-14		ENSG00000162144		"Cytochrome b genes"	23014	protein-coding gene	gene with protein product			"cytochrome b, ascorbate dependent 3"	CYBASC3		23249217	Standard	NM_153611		Approved		uc001nrf.4	Q8NBI2		ENST00000294072.4:c.431C>T	11.37:g.61120574G>A	ENSP00000294072:p.Ala144Val					CYB561A3_ENST00000426130.2_Missense_Mutation_p.A161V|CYB561A3_ENST00000294072.4_Missense_Mutation_p.A144V|CYB561A3_ENST00000544118.1_Intron|CYB561A3_ENST00000447532.2_Missense_Mutation_p.A144V|CYB561A3_ENST00000536915.1_Missense_Mutation_p.A144V|CYB561A3_ENST00000540317.1_5'UTR|CYB561A3_ENST00000539890.1_Intron	p.R88C							5	530	-								B3KPU2|B4DLN9|J3KQH4|Q6PK96	Missense_Mutation	SNP	ENST00000294072.4	37	c.262C>T	CCDS8004.1	1|1	4.578754578754579E-4|4.578754578754579E-4	0|0	0.0|0.0	1|1	0.0027624309392265192|0.0027624309392265192	0|0	0.0|0.0	0|0	0.0|0.0	G|G	29.2|29.2	4.983947|4.983947	0.93044|0.93044	.|.	.|.	ENSG00000162144|ENSG00000162144	ENST00000426130;ENST00000294072;ENST00000447532;ENST00000536915;ENST00000540139;ENST00000542361;ENST00000537364|ENST00000546151	T;T;T;T;T;T;T|.	0.44083|.	0.93;0.93;0.93;0.93;0.93;0.93;0.93|.	6.02|6.02	5.09|5.09	0.68999|0.68999	Cytochrome b561, eukaryote (1);Cytochrome b561/ferric reductase transmembrane (2);|.	0.356469|.	0.32819|.	N|.	0.005613|.	T|T	0.64605|0.64605	0.2613|0.2613	L|L	0.54965|0.54965	1.715|1.715	0.38926|0.38926	D|D	0.957846|0.957846	D;D;D|.	0.58268|.	0.982;0.961;0.982|.	P;B;P|.	0.51777|.	0.679;0.418;0.679|.	T|T	0.69228|0.69228	-0.5200|-0.5200	10|6	0.44086|0.62326	T|D	0.13|0.03	-8.3316|-8.3316	12.7844|12.7844	0.57496|0.57496	0.078:0.0:0.922:0.0|0.078:0.0:0.922:0.0	.|.	161;144;144|.	B4DLN9;F5H1Q2;Q8NBI2|.	.;.;CYAC3_HUMAN|.	V|C	161;144;144;144;56;144;144|88	ENSP00000398979:A161V;ENSP00000294072:A144V;ENSP00000389745:A144V;ENSP00000437390:A144V;ENSP00000441085:A56V;ENSP00000443321:A144V;ENSP00000438725:A144V|.	ENSP00000294072:A144V|ENSP00000441834:R88C	A|R	-|-	2|1	0|0	CYBASC3|CYBASC3	60877150|60877150	1.000000|1.000000	0.71417|0.71417	0.891000|0.891000	0.34965|0.34965	0.988000|0.988000	0.76386|0.76386	6.050000|6.050000	0.71063|0.71063	1.495000|1.495000	0.48549|0.48549	0.655000|0.655000	0.94253|0.94253	GCG|CGT		0.557	CYB561A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398714.2	NM_153611		11	12	0	0	0	1	0	11	12					A	61120574	G	A	61120574	3	1	94	1	0	0	0	0	1	0	0	0	4132	1087	38	1	309	1	CYBASC3	11	61120574	Missense_Mutation	SNP	G	TCGA-EJ-7782-01A-11D-2114-08	2141545	61120574	73885942	273	5092											
DAGLA	747	broad.mit.edu	37	chr11	61495643	61495643	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggatgcctactcagaaatcGcctacctctttgcggagttc	9	11	9	12	2	2	1	1	0	1	1	4	3	2	3	3	2	4	1	3	2	3	4			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr11:61495643G>A	ENST00000257215.5	+	7	771	c.655G>A	c.(655-657)Gcc>Acc	p.A219T		NM_006133.2	NP_006124.1	Q9Y4D2	DGLA_HUMAN	diacylglycerol lipase, alpha	219					arachidonic acid metabolic process (GO:0019369)|blood coagulation (GO:0007596)|cell death (GO:0008219)|diacylglycerol catabolic process (GO:0046340)|endocannabinoid signaling pathway (GO:0071926)|neuroblast proliferation (GO:0007405)|neurotransmitter biosynthetic process (GO:0042136)|platelet activation (GO:0030168)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(2)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	43				READ - Rectum adenocarcinoma(4;0.219)		CTCAGAAATCGCCTACCTCTT	0.617																																						ENST00000257215.5																			0				breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(2)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	43						c.(655-657)Gcc>Acc		diacylglycerol lipase, alpha							191	174	179					11																	61495643		2202	4299	6501	SO:0001583	missense	747				cell death|lipid catabolic process|platelet activation	integral to membrane|plasma membrane	acylglycerol lipase activity|metal ion binding|triglyceride lipase activity	g.chr11:61495643G>A	AB014559	CCDS31578.1	11q12.3	2008-03-18	2007-02-28	2007-02-28		ENSG00000134780	3.1.1.-		1165	protein-coding gene	gene with protein product	"neural stem cell-derived dendrite regulator"	614015	"chromosome 11 open reading frame 11"	C11orf11		9734811	Standard	NM_006133		Approved	KIAA0659, NSDDR, DAGLALPHA	uc001nsa.3	Q9Y4D2		ENST00000257215.5:c.655G>A	11.37:g.61495643G>A	ENSP00000257215:p.Ala219Thr						p.A219T	NM_006133.2	NP_006124.1	Q9Y4D2	DGLA_HUMAN		READ - Rectum adenocarcinoma(4;0.219)	7	771	+			219					A7E233|Q6WQJ0	Missense_Mutation	SNP	ENST00000257215.5	37	c.655G>A	CCDS31578.1	.	.	.	.	.	.	.	.	.	.	G	32	5.133867	0.94517	.	.	ENSG00000134780	ENST00000257215	T	0.55930	0.49	4.88	4.88	0.63580	.	0.000000	0.85682	D	0.000000	T	0.74496	0.3724	M	0.80847	2.515	0.80722	D	1	D	0.76494	0.999	D	0.75020	0.985	T	0.78583	-0.2148	10	0.66056	D	0.02	-33.4404	18.4262	0.90610	0.0:0.0:1.0:0.0	.	219	Q9Y4D2	DGLA_HUMAN	T	219	ENSP00000257215:A219T	ENSP00000257215:A219T	A	+	1	0	DAGLA	61252219	1.000000	0.71417	0.999000	0.59377	0.829000	0.46940	9.359000	0.97115	2.430000	0.82344	0.555000	0.69702	GCC		0.617	DAGLA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398516.1	NM_006133		5	77	0	0	0	1	0	5	77					A	61495643	G	A	61495643	3	1	94	1	0	0	0	0	1	0	0	0	4226	1087	38	1	677	1	DAGLA	11	61495643	Missense_Mutation	SNP	G	TCGA-EJ-7782-01A-11D-2114-08	375069	61495643	73510873	274	5093											
AHNAK	79026	broad.mit.edu	37	chr11	62301277	62301277	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cccgagggcagtctgatcacGgtcttcccagactgggtctc	6	9	12	14	2	4	2	1	1	3	1	6	3	5	2	2	3	0	1	2	3	0	1	rs368779297		TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr11:62301277G>A	ENST00000378024.4	-	5	886	c.612C>T	c.(610-612)acC>acT	p.T204T	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	204					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				GTCTGATCACGGTCTTCCCAG	0.542																																						ENST00000378024.4																			0				NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268						c.(610-612)acC>acT		AHNAK nucleoprotein		G	,	0,4404		0,0,2202	101	101	101		612,	-11.6	0.9	11		101	1,8597	1.2+/-3.3	0,1,4298	no	coding-synonymous,intron	AHNAK	NM_001620.1,NM_024060.2	,	0,1,6500	AA,AG,GG		0.0116,0.0,0.0077	,	204/5891,	62301277	1,13001	2202	4299	6501	SO:0001819	synonymous_variant	79026				nervous system development	nucleus	protein binding	g.chr11:62301277G>A	M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"desmoyokin"	103390	"AHNAK nucleoprotein (desmoyokin)"			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.612C>T	11.37:g.62301277G>A						AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	p.T204T	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN			5	886	-		Melanoma(852;0.155)	204					A1A586	Silent	SNP	ENST00000378024.4	37	c.612C>T	CCDS31584.1																																																																																				0.542	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060		15	49	0	0	0	1	0	15	49					A	62301277	G	A	62301277	2	1	94	1	0	0	0	0	0	0	0	1	414	1103	39	2		2	AHNAK	11	62301277	Silent	SNP	G	TCGA-EJ-7782-01A-11D-2114-08	805634	62301277	72705239	275	5094											
CDC42BPG	55561	broad.mit.edu	37	chr11	64606680	64606680	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggggagatatagtccggcGtccctactgccactgatgaa	10	8	12	11	2	0	3	0	2	0	1	2	4	2	3	3	3	2	0	3	3	4	3			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr11:64606680G>A	ENST00000342711.5	-	7	700	c.701C>T	c.(700-702)aCg>aTg	p.T234M		NM_017525.2	NP_059995.2			CDC42 binding protein kinase gamma (DMPK-like)											central_nervous_system(1)|lung(3)	4						ATAGTCCGGCGTCCCTACTGC	0.617																																						ENST00000342711.5																			0				central_nervous_system(1)|lung(3)	4						c.(700-702)aCg>aTg		CDC42 binding protein kinase gamma (DMPK-like)							87	83	85					11																	64606680		2201	4297	6498	SO:0001583	missense	55561				actin cytoskeleton reorganization|intracellular signal transduction	cell leading edge|centrosome	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chr11:64606680G>A	AY648038	CCDS31601.1	11q13	2013-01-10			ENSG00000171219	ENSG00000171219		"Pleckstrin homology (PH) domain containing"	29829	protein-coding gene	gene with protein product		613991				9341881, 15194684	Standard	NM_017525		Approved	HSMDPKIN, MRCKgamma, DMPK2, kappa-200	uc001obs.4	Q6DT37	OTTHUMG00000045365	ENST00000342711.5:c.701C>T	11.37:g.64606680G>A	ENSP00000345133:p.Thr234Met						p.T234M	NM_017525.2	NP_059995.2	Q6DT37	MRCKG_HUMAN			7	700	-			234			Protein kinase.			Missense_Mutation	SNP	ENST00000342711.5	37	c.701C>T	CCDS31601.1	.	.	.	.	.	.	.	.	.	.	G	23.6	4.433779	0.83776	.	.	ENSG00000171219	ENST00000342711	T	0.49139	0.79	5.27	5.27	0.74061	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.234103	0.29587	N	0.011735	T	0.81346	0.4803	H	0.98388	4.22	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	D	0.88486	0.3072	10	0.87932	D	0	.	16.7333	0.85440	0.0:0.0:1.0:0.0	.	234	Q6DT37	MRCKG_HUMAN	M	234	ENSP00000345133:T234M	ENSP00000345133:T234M	T	-	2	0	CDC42BPG	64363256	1.000000	0.71417	0.934000	0.37439	0.829000	0.46940	9.758000	0.98927	2.623000	0.88846	0.655000	0.94253	ACG		0.617	CDC42BPG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000105352.4	XM_290516		6	41	0	0	0	1	0	6	41					A	64606680	G	A	64606680	3	1	94	1	0	0	0	0	1	0	0	0	3074	1145	40	1	4078	1	CDC42BPG	11	64606680	Missense_Mutation	SNP	G	TCGA-EJ-7782-01A-11D-2114-08	2305403	64606680	70399836	276	5095											
LTBP3	4054	broad.mit.edu	37	chr11	65307998	65307998	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cgtcgtagtagaagccctgcTtgcagtagcactcgtagcca	9	9	11	12	3	0	1	0	0	0	1	2	1	0	1	2	0	5	7	2	0	5	5			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr11:65307998T>C	ENST00000301873.5	-	22	3333	c.3065A>G	c.(3064-3066)aAg>aGg	p.K1022R	LTBP3_ENST00000532932.1_Missense_Mutation_p.K452R|LTBP3_ENST00000530785.1_Missense_Mutation_p.K25R|LTBP3_ENST00000322147.4_Missense_Mutation_p.K1022R|LTBP3_ENST00000536982.1_Missense_Mutation_p.K648R|LTBP3_ENST00000529189.1_Missense_Mutation_p.K25R	NM_001130144.2	NP_001123616.1	Q9NS15	LTBP3_HUMAN	latent transforming growth factor beta binding protein 3	1022	EGF-like 10; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				bone morphogenesis (GO:0060349)|bone remodeling (GO:0046849)|extracellular matrix organization (GO:0030198)|lung saccule development (GO:0060430)|negative regulation of bone mineralization (GO:0030502)|negative regulation of chondrocyte differentiation (GO:0032331)|positive regulation of bone resorption (GO:0045780)|positive regulation of mesenchymal stem cell differentiation (GO:2000741)|positive regulation of mesenchymal stem cell proliferation (GO:1902462)|transforming growth factor beta activation (GO:0036363)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|transforming growth factor beta binding (GO:0050431)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|prostate(2)|upper_aerodigestive_tract(3)	23						GAAGCCCTGCTTGCAGTAGCA	0.652											OREG0021080	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000301873.5																			0				breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|prostate(2)|upper_aerodigestive_tract(3)	23						c.(3064-3066)aAg>aGg		latent transforming growth factor beta binding protein 3							70	55	60					11																	65307998		2201	4297	6498	SO:0001583	missense	4054					extracellular region	calcium ion binding|growth factor binding	g.chr11:65307998T>C	AF135960	CCDS8103.1, CCDS44647.1	11q12	2011-10-20			ENSG00000168056	ENSG00000168056		"Latent transforming growth factor, beta binding proteins"	6716	protein-coding gene	gene with protein product		602090		LTBP2		7719025	Standard	NM_001164266		Approved		uc001oej.3	Q9NS15	OTTHUMG00000166575	ENST00000301873.5:c.3065A>G	11.37:g.65307998T>C	ENSP00000301873:p.Lys1022Arg		OREG0021080	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1083	LTBP3_ENST00000529189.1_Missense_Mutation_p.K25R|LTBP3_ENST00000536982.1_Missense_Mutation_p.K648R|LTBP3_ENST00000530785.1_Missense_Mutation_p.K25R|LTBP3_ENST00000322147.4_Missense_Mutation_p.K1022R|LTBP3_ENST00000532932.1_Missense_Mutation_p.K452R	p.K1022R	NM_001130144.2	NP_001123616.1	Q9NS15	LTBP3_HUMAN			22	3333	-			1022			EGF-like 10; calcium-binding (Potential).		O15107|Q96HB9|Q9H7K2|Q9UFN4	Missense_Mutation	SNP	ENST00000301873.5	37	c.3065A>G	CCDS44647.1	.	.	.	.	.	.	.	.	.	.	T	24.0	4.484056	0.84854	.	.	ENSG00000168056	ENST00000301874;ENST00000322147;ENST00000301873;ENST00000530785;ENST00000529189;ENST00000532932;ENST00000536982;ENST00000532661;ENST00000530866	T;D;D;T;D;T;T;D	0.92048	1.72;-2.96;-2.26;1.59;-2.96;1.72;1.72;-2.96	4.13	4.13	0.48395	EGF-like region, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.244385	0.40302	N	0.001128	D	0.88496	0.6452	N	0.03608	-0.345	0.38733	D	0.953702	P;P;D;P;D;B;D	0.69078	0.717;0.801;0.973;0.698;0.991;0.143;0.997	P;B;P;B;P;B;D	0.80764	0.559;0.376;0.884;0.371;0.846;0.174;0.994	D	0.87326	0.2321	10	0.25106	T	0.35	.	11.102	0.48179	0.0:0.0:0.0:1.0	.	933;648;905;1022;1022;452;648	E9PKW1;F5GWC4;B9EG76;Q9NS15;Q9NS15-2;E9PJR2;B4DQL8	.;.;.;LTBP3_HUMAN;.;.;.	R	25;1022;1022;25;25;452;648;25;933	ENSP00000326647:K1022R;ENSP00000301873:K1022R;ENSP00000434315:K25R;ENSP00000434406:K25R;ENSP00000435530:K452R;ENSP00000441912:K648R;ENSP00000436341:K25R;ENSP00000435276:K933R	ENSP00000301873:K1022R	K	-	2	0	LTBP3	65064574	0.653000	0.27358	1.000000	0.80357	0.996000	0.88848	1.684000	0.37649	1.506000	0.48736	0.374000	0.22700	AAG		0.652	LTBP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390538.1	NM_021070		10	39	0	0	0	1	0	10	39					C	65307998	T	C	65307998	3	2	94	1	0	0	0	0	1	0	0	0	9075	1609	56	4	874	4	LTBP3	11	65307998	Missense_Mutation	SNP	T	TCGA-EJ-7782-01A-11D-2114-08	701318	65307998	69698518	277	5096											
MAP3K11	10089	broad.mit.edu	37	chr11	65365835	65365835	+	5'Flank	DEL	C	C	-																															gtgccctgcagtcctgggggCccccctggaaggggttggca																										TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr11:65365835delC	ENST00000340313.4	-	0	0				MAP3K11_ENST00000532507.1_Frame_Shift_Del_p.G240fs|KCNK7_ENST00000394217.2_5'Flank|KCNK7_ENST00000342202.4_5'Flank|MAP3K11_ENST00000309100.3_Frame_Shift_Del_p.G824fs|MAP3K11_ENST00000534432.1_5'Flank|MAP3K11_ENST00000530153.1_Frame_Shift_Del_p.G567fs|KCNK7_ENST00000394216.2_5'Flank	NM_033347.1	NP_203133.1	Q9Y2U2	KCNK7_HUMAN	potassium channel, subfamily K, member 7						potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	potassium channel activity (GO:0005267)|voltage-gated ion channel activity (GO:0005244)			endometrium(1)|liver(1)|lung(1)	3						GTCCTGGGGGCCCCCCTGGAA	0.701																																						ENST00000309100.3																			0				breast(3)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(14)|skin(1)	24						c.(2470-2472)gcfs		mitogen-activated protein kinase kinase kinase 11							16	20	19					11																	65365835		2198	4296	6494	SO:0001631	upstream_gene_variant	4296				activation of JUN kinase activity|cell proliferation|G1 phase of mitotic cell cycle|microtubule-based process|positive regulation of JNK cascade|protein autophosphorylation	centrosome|microtubule	ATP binding|JUN kinase kinase kinase activity|mitogen-activated protein kinase kinase kinase binding|protein homodimerization activity	g.chr11:65365835delC	AF110522	CCDS8106.1, CCDS31608.1, CCDS41673.1	11q13	2012-03-07			ENSG00000173338	ENSG00000173338		"Potassium channels", "Voltage-gated ion channels / Potassium channels, Two-P"	6282	protein-coding gene	gene with protein product		603940				10206991, 11256078, 16382106	Standard	NM_033347		Approved	K2p7.1	uc001oes.3	Q9Y2U2	OTTHUMG00000166528		11.37:g.65365835delC	Exception_encountered					MAP3K11_ENST00000530153.1_Frame_Shift_Del_p.G567fs|MAP3K11_ENST00000532507.1_Frame_Shift_Del_p.G240fs	p.G824fs	NM_002419.3	NP_002410.1	Q16584	M3K11_HUMAN			10	2956	-			824			Pro-rich.		Q3SYI2|Q9Y2U3|Q9Y2U4	Frame_Shift_Del	DEL	ENST00000340313.4	37	c.2471delG	CCDS31608.1																																																																																				0.701	KCNK7-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390206.1	NM_005714		8	11						8	11	---	---	---	---	-	65365835	C	-	65365835	6	5	94	0	1	1	0	1	0	0	0	0	9245	739	26	0		0	MAP3K11	11	65365835	5'Flank	DEL	C	TCGA-EJ-7782-01A-11D-2114-08	57837	65365835	69640681	278	5097											
SNX32	254122	broad.mit.edu	37	chr11	65620113	65620113	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtcctaggacctgctgtacCggcggctgcgggcactggcc	4	7	16	14	3	0	0	0	0	0	0	1	1	1	1	4	6	3	4	4	6	2	2	rs140929894		TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr11:65620113C>T	ENST00000308342.6	+	11	1350	c.925C>T	c.(925-927)Cgg>Tgg	p.R309W		NM_152760.2	NP_689973.2	Q86XE0	SNX32_HUMAN	sorting nexin 32	309					intracellular protein transport (GO:0006886)	endosome (GO:0005768)	phosphatidylinositol binding (GO:0035091)			endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				READ - Rectum adenocarcinoma(159;0.171)		CCTGCTGTACCGGCGGCTGCG	0.697																																						ENST00000308342.6																			0				endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						c.(925-927)Cgg>Tgg		sorting nexin 32		C	TRP/ARG	2,4396		0,2,2197	17	19	19		925	1.1	0.2	11	dbSNP_134	19	0,8586		0,0,4293	no	missense	SNX32	NM_152760.2	101	0,2,6490	TT,TC,CC		0.0,0.0455,0.0154	probably-damaging	309/404	65620113	2,12982	2199	4293	6492	SO:0001583	missense	254122				cell communication|protein transport		phosphatidylinositol binding	g.chr11:65620113C>T	AK055496	CCDS8113.2	11q13.1	2008-03-11	2008-03-11	2008-03-11	ENSG00000172803	ENSG00000172803		"Sorting nexins"	26423	protein-coding gene	gene with protein product			"sorting nexin 6B"	SNX6B		16782399	Standard	XM_005273871		Approved	FLJ30934	uc001ofr.3	Q86XE0	OTTHUMG00000128491	ENST00000308342.6:c.925C>T	11.37:g.65620113C>T	ENSP00000310620:p.Arg309Trp						p.R309W	NM_152760.2	NP_689973.2	Q86XE0	SNX32_HUMAN		READ - Rectum adenocarcinoma(159;0.171)	11	1350	+			309					Q8IW53|Q96NG4	Missense_Mutation	SNP	ENST00000308342.6	37	c.925C>T	CCDS8113.2	.	.	.	.	.	.	.	.	.	.	C	14.12	2.439478	0.43326	4.55E-4	0.0	ENSG00000172803	ENST00000308342	T	0.30714	1.52	5.21	1.08	0.20341	Vps5 C-terminal (1);	0.615165	0.14581	N	0.310876	T	0.27349	0.0671	M	0.69248	2.105	0.28168	N	0.928697	B	0.18310	0.027	B	0.12837	0.008	T	0.30822	-0.9965	10	0.87932	D	0	-10.1678	3.8469	0.08939	0.2611:0.4889:0.0:0.2499	.	309	Q86XE0	SNX32_HUMAN	W	309	ENSP00000310620:R309W	ENSP00000310620:R309W	R	+	1	2	SNX32	65376689	0.833000	0.29383	0.211000	0.23655	0.942000	0.58702	-0.135000	0.10420	0.364000	0.24374	0.561000	0.74099	CGG		0.697	SNX32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250295.3	NM_152760		8	16	0	0	0	1	0	8	16					T	65620113	C	T	65620113	3	4	94	1	0	0	0	0	1	0	0	0	14902	643	23	2	967	2	SNX32	11	65620113	Missense_Mutation	SNP	C	TCGA-EJ-7782-01A-11D-2114-08	254278	65620113	69386403	279	5098											
YIF1A	10897	broad.mit.edu	37	chr11	66055105	66055105	+	Frame_Shift_Del	DEL	G	G	-																															aggggcgttgaggtcttgccGggggggcagaggagcatcac																										TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr11:66055105delG	ENST00000376901.4	-	4	575	c.391delC	c.(391-393)cggfs	p.R131fs	YIF1A_ENST00000526497.1_5'Flank|YIF1A_ENST00000496746.1_5'Flank|YIF1A_ENST00000471387.2_5'UTR|YIF1A_ENST00000359461.6_Frame_Shift_Del_p.R131fs	NM_020470.2	NP_065203.2	O95070	YIF1A_HUMAN	Yip1 interacting factor homolog A (S. cerevisiae)	131					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum membrane (GO:0005789)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|microtubule organizing center (GO:0005815)				endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|skin(2)|stomach(1)	9						AGGTCTTGCCGGGGGGGCAGA	0.622																																						ENST00000376901.4																			0				endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|skin(2)|stomach(1)	9						c.(391-393)ggfs		Yip1 interacting factor homolog A (S. cerevisiae)							30	30	30					11																	66055105		2200	4294	6494	SO:0001589	frameshift_variant	10897				protein transport|vesicle-mediated transport	centrosome|endoplasmic reticulum membrane|ER-Golgi intermediate compartment|Golgi membrane|integral to membrane		g.chr11:66055105delG	AF004876	CCDS8132.1, CCDS73325.1	11q13	2009-01-05	2005-06-07	2005-06-07	ENSG00000174851	ENSG00000174851			16688	protein-coding gene	gene with protein product		611484	"Yip1 interacting factor homolog (S. cerevisiae)"	YIF1		8824393, 10970842, 18718466	Standard	NM_020470		Approved	YIF1P, 54TM, FinGER7	uc001ohk.4	O95070	OTTHUMG00000102079	ENST00000376901.4:c.391delC	11.37:g.66055105delG	ENSP00000366098:p.Arg131fs					YIF1A_ENST00000359461.6_Frame_Shift_Del_p.R131fs|YIF1A_ENST00000471387.2_5'UTR	p.R131fs	NM_020470.2	NP_065203.2	O95070	YIF1A_HUMAN			4	575	-			131					A6NM00|Q96G83|Q9BVD0	Frame_Shift_Del	DEL	ENST00000376901.4	37	c.391delC	CCDS8132.1																																																																																				0.622	YIF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219903.3	NM_020470		10	45						10	45	---	---	---	---	-	66055105	G	-	66055105	7	5	94	1	0	1	0	1	0	0	0	0	17472	1115	39	0	510	0	YIF1A	11	66055105	Frame_Shift_Del	DEL	G	TCGA-EJ-7782-01A-11D-2114-08	434992	66055105	68951411	280	5099											
MTL5	9633	broad.mit.edu	37	chr11	68506190	68506190	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agccaaagttatttttggtgGtcctggaagagttgatcccg	9	13	12	7	1	0	2	0	1	0	1	2	3	2	3	3	3	1	2	3	3	3	4	rs370056313		TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr11:68506190G>A	ENST00000255087.5	-	6	1078	c.895C>T	c.(895-897)Cca>Tca	p.P299S	MTL5_ENST00000540869.1_5'UTR|MTL5_ENST00000544963.1_Missense_Mutation_p.P299S|MTL5_ENST00000443940.2_3'UTR	NM_004923.3	NP_004914.2	Q9Y4I5	MTL5_HUMAN	metallothionein-like 5, testis-specific (tesmin)	299	CRC. {ECO:0000255|PROSITE- ProRule:PRU00971}.				cell differentiation (GO:0030154)|cellular metal ion homeostasis (GO:0006875)|multicellular organismal development (GO:0007275)|response to metal ion (GO:0010038)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			breast(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)	15	Esophageal squamous(3;4.37e-12)		LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.185)			ATTTTTGGTGGTCCTGGAAGA	0.413																																						ENST00000255087.5																			0				breast(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)	15						c.(895-897)Cca>Tca		metallothionein-like 5, testis-specific (tesmin)							107	100	102					11																	68506190		2200	4294	6494	SO:0001583	missense	9633				cell differentiation|cellular metal ion homeostasis|multicellular organismal development|response to metal ion|spermatogenesis	cytoplasm|nucleus|soluble fraction	metal ion binding	g.chr11:68506190G>A	U86074	CCDS8184.1, CCDS44661.1	11q13.2-q13.3	2007-01-03			ENSG00000132749	ENSG00000132749			7446	protein-coding gene	gene with protein product	"CXC domain containing 2"	604374				1091092	Standard	XR_428932		Approved	CXCDC2	uc001ooc.3	Q9Y4I5	OTTHUMG00000167891	ENST00000255087.5:c.895C>T	11.37:g.68506190G>A	ENSP00000255087:p.Pro299Ser					MTL5_ENST00000544963.1_Missense_Mutation_p.P299S|MTL5_ENST00000540869.1_5'UTR|MTL5_ENST00000443940.2_3'UTR	p.P299S	NM_004923.3	NP_004914.2	Q9Y4I5	MTL5_HUMAN	LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.185)		6	1078	-	Esophageal squamous(3;4.37e-12)		299					A8K8J3|Q4G182|Q6P2E2|Q8NCC8	Missense_Mutation	SNP	ENST00000255087.5	37	c.895C>T	CCDS8184.1	.	.	.	.	.	.	.	.	.	.	G	15.57	2.872215	0.51695	.	.	ENSG00000132749	ENST00000255087;ENST00000544963	T;T	0.52057	1.55;0.68	5.16	5.16	0.70880	.	0.000000	0.47852	D	0.000202	T	0.30634	0.0771	L	0.34521	1.04	0.34649	D	0.721411	P	0.39480	0.675	B	0.32393	0.145	T	0.43310	-0.9399	10	0.24483	T	0.36	-11.7634	9.7839	0.40664	0.0944:0.0:0.9056:0.0	.	299	Q9Y4I5	MTL5_HUMAN	S	299	ENSP00000255087:P299S;ENSP00000440968:P299S	ENSP00000255087:P299S	P	-	1	0	MTL5	68262766	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	2.093000	0.41710	2.433000	0.82419	0.561000	0.74099	CCA		0.413	MTL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396844.1	NM_004923		4	37	0	0	0	1	0	4	37					A	68506190	G	A	68506190	3	1	94	1	0	0	0	0	1	0	0	0	9936	1261	44	3	655	3	MTL5	11	68506190	Missense_Mutation	SNP	G	TCGA-EJ-7782-01A-11D-2114-08	2451085	68506190	66500326	281	5100											
ANO1	55107	broad.mit.edu	37	chr11	70031720	70031720	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaagactaccgagagccgccGtggtcggaaaacaagtacga	15	4	12	10	5	0	2	0	0	0	2	1	5	0	3	3	2	4	1	3	2	6	2			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr11:70031720G>A	ENST00000355303.5	+	25	2918	c.2613G>A	c.(2611-2613)ccG>ccA	p.P871P	ANO1_ENST00000525494.1_3'UTR|ANO1-AS1_ENST00000524987.1_RNA|ANO1_ENST00000530676.1_Silent_p.P725P|ANO1_ENST00000398543.2_Silent_p.P725P|ANO1_ENST00000531349.1_Silent_p.P580P|ANO1_ENST00000538023.1_Silent_p.P871P	NM_018043.5	NP_060513.5	Q5XXA6	ANO1_HUMAN	anoctamin 1, calcium activated chloride channel	871					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|regulation of membrane potential (GO:0042391)|trachea development (GO:0060438)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|chloride channel complex (GO:0034707)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|intracellular calcium activated chloride channel activity (GO:0005229)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(12)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)	29					Crofelemer(DB04941)	GAGAGCCGCCGTGGTCGGAAA	0.607																																						ENST00000355303.5																			0				central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(12)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)	29						c.(2611-2613)ccG>ccA		anoctamin 1, calcium activated chloride channel							92	101	98					11																	70031720		1940	4141	6081	SO:0001819	synonymous_variant	55107				multicellular organismal development	chloride channel complex|cytoplasm|plasma membrane	intracellular calcium activated chloride channel activity	g.chr11:70031720G>A	BC033036	CCDS44663.1	11q13.2	2014-04-09	2008-08-28	2008-08-28	ENSG00000131620	ENSG00000131620		"Ion channels / Chloride channels : Calcium activated : Anoctamins"	21625	protein-coding gene	gene with protein product		610108	"oral cancer overexpressed 2", "transmembrane protein 16A"	ORAOV2, TMEM16A		15067359, 18724360, 24692353	Standard	NM_018043		Approved	TAOS2, FLJ10261, DOG1	uc001opj.3	Q5XXA6	OTTHUMG00000167204	ENST00000355303.5:c.2613G>A	11.37:g.70031720G>A						ANO1_ENST00000398543.2_Silent_p.P725P|ANO1_ENST00000530676.1_Silent_p.P725P|ANO1_ENST00000531349.1_Silent_p.P580P|ANO1_ENST00000538023.1_Silent_p.P871P|ANO1_ENST00000525494.1_3'UTR	p.P871P	NM_018043.5	NP_060513.5	Q5XXA6	ANO1_HUMAN			25	2918	+			871					A8KAM3|Q8IYY8|Q8N7V3	Silent	SNP	ENST00000355303.5	37	c.2613G>A	CCDS44663.1																																																																																				0.607	ANO1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000393685.1	NM_018043		11	34	0	0	0	1	0	11	34					A	70031720	G	A	70031720	2	1	94	1	0	0	0	0	0	0	0	1	695	1132	40	1		1	ANO1	11	70031720	Silent	SNP	G	TCGA-EJ-7782-01A-11D-2114-08	1525530	70031720	64974796	282	5101											
SHANK2	22941	broad.mit.edu	37	chr11	70331617	70331617	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tccttggctggagaaccttgGccatcccaggctgggcactg	6	9	13	13	0	0	1	0	0	0	1	2	2	2	1	4	5	1	3	4	5	1	2			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr11:70331617G>A	ENST00000423696.2	-	15	3680	c.3644C>T	c.(3643-3645)gCc>gTc	p.A1215V	SHANK2_ENST00000338508.4_Missense_Mutation_p.A1595V|SHANK2_ENST00000409161.1_Missense_Mutation_p.A998V|SHANK2_ENST00000449833.2_Missense_Mutation_p.A999V			Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2	1215					adult behavior (GO:0030534)|learning (GO:0007612)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|vocalization behavior (GO:0071625)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|cell junction (GO:0030054)|ciliary membrane (GO:0060170)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|growth cone (GO:0030426)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	GKAP/Homer scaffold activity (GO:0030160)|ionotropic glutamate receptor binding (GO:0035255)			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			GAGAACCTTGGCCATCCCAGG	0.577																																						ENST00000338508.4																			0				NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62						c.(4783-4785)gCc>gTc		SH3 and multiple ankyrin repeat domains 2							59	65	63					11																	70331617		2200	4294	6494	SO:0001583	missense	22941				intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding	g.chr11:70331617G>A	AF141901		11q13.2	2013-01-10			ENSG00000162105	ENSG00000162105		"Sterile alpha motif (SAM) domain containing", "Ankyrin repeat domain containing"	14295	protein-coding gene	gene with protein product		603290	"cortactin binding protein 1"	CORTBP1		10506216	Standard	XM_005277930		Approved	CTTNBP1, ProSAP1, SHANK, SPANK-3	uc001oqc.3	Q9UPX8	OTTHUMG00000154615	ENST00000423696.2:c.3644C>T	11.37:g.70331617G>A	ENSP00000394536:p.Ala1215Val					SHANK2_ENST00000409161.1_Missense_Mutation_p.A998V|SHANK2_ENST00000449833.2_Missense_Mutation_p.A999V|SHANK2_ENST00000423696.2_Missense_Mutation_p.A1215V	p.A1595V			Q9UPX8	SHAN2_HUMAN	LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)		32	4783	-			1215					C0SPG8|C0SPG9|Q3Y8G9|Q52LK2|Q9UKP1	Missense_Mutation	SNP	ENST00000423696.2	37	c.4784C>T		.	.	.	.	.	.	.	.	.	.	G	11.39	1.626095	0.28978	.	.	ENSG00000162105	ENST00000449833;ENST00000409161;ENST00000424924;ENST00000338508;ENST00000423696;ENST00000433693;ENST00000294018	T;T;T;T;T;T	0.40225	2.32;2.32;3.04;1.04;2.45;2.45	5.42	2.57	0.30868	.	0.606682	0.19382	N	0.115634	T	0.32763	0.0840	L	0.44542	1.39	0.22401	N	0.999136	B;B;B	0.16802	0.011;0.014;0.019	B;B;B	0.18871	0.007;0.023;0.016	T	0.19943	-1.0290	10	0.23302	T	0.38	.	10.7066	0.45958	0.2056:0.0:0.7944:0.0	.	1215;1594;999	Q9UPX8;Q9UPX8-3;Q9UPX8-4	SHAN2_HUMAN;.;.	V	999;998;873;1595;1215;1233;1218	ENSP00000399423:A999V;ENSP00000386491:A998V;ENSP00000402944:A873V;ENSP00000345193:A1595V;ENSP00000394536:A1215V;ENSP00000294018:A1218V	ENSP00000294018:A1218V	A	-	2	0	SHANK2	70009265	0.759000	0.28416	0.000000	0.03702	0.997000	0.91878	4.152000	0.58111	0.286000	0.22352	0.655000	0.94253	GCC		0.577	SHANK2-203	KNOWN	basic	protein_coding	protein_coding		NM_012309		4	55	0	0	0	1	0	4	55					A	70331617	G	A	70331617	3	1	94	1	0	0	0	0	1	0	0	0	14265	1203	42	3	776	3	SHANK2	11	70331617	Missense_Mutation	SNP	G	TCGA-EJ-7782-01A-11D-2114-08	299897	70331617	64674899	283	5102											
TAF1D	79101	broad.mit.edu	37	chr11	93471453	93471453	+	Frame_Shift_Del	DEL	T	T	-																															gctggtacctcctctttttcTtttttttatatctctttttc																										TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr11:93471453delT	ENST00000448108.2	-	3	931	c.281delA	c.(280-282)aagfs	p.K96fs	TAF1D_ENST00000546088.1_5'Flank	NM_024116.3	NP_077021.1	Q9H5J8	TAF1D_HUMAN	TATA box binding protein (TBP)-associated factor, RNA polymerase I, D, 41kDa	96					gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)	microtubule organizing center (GO:0005815)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)			large_intestine(1)|lung(3)|prostate(1)|skin(2)	7						CCTCTTTTTCTTTTTTTTATA	0.348																																						ENST00000448108.2																			0				large_intestine(1)|lung(3)|prostate(1)|skin(2)	7						c.(280-282)agfs		TATA box binding protein (TBP)-associated factor, RNA polymerase I, D, 41kDa							109	116	114					11																	93471453		2201	4298	6499	SO:0001589	frameshift_variant	79101				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	g.chr11:93471453delT		CCDS8293.1	11q21	2012-05-30	2008-09-30	2008-09-30	ENSG00000166012	ENSG00000166012			28759	protein-coding gene	gene with protein product		612823	"Josephin domain containing 3"	JOSD3		15520167, 17318177	Standard	NM_024116		Approved	MGC5306, TAF(I)41	uc001pec.3	Q9H5J8	OTTHUMG00000167451	ENST00000448108.2:c.281delA	11.37:g.93471453delT	ENSP00000410409:p.Lys96fs						p.K96fs	NM_024116.3	NP_077021.1	Q9H5J8	TAF1D_HUMAN			3	931	-			96					Q6I9Y6	Frame_Shift_Del	DEL	ENST00000448108.2	37	c.281delA	CCDS8293.1																																																																																				0.348	TAF1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394662.2	NM_024116		7	107						7	107	---	---	---	---	-	93471453	T	-	93471453	7	5	94	1	0	1	0	1	0	0	0	0	15519	1609	56	0	571	0	TAF1D	11	93471453	Frame_Shift_Del	DEL	T	TCGA-EJ-7782-01A-11D-2114-08	23139836	93471453	41535063	284	5103											
NPAT	4863	broad.mit.edu	37	chr11	108068119	108068119	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aaaataaaagtctggcaggtAgaaatgaggttttcttgctg	14	12	11	4	0	2	2	0	1	2	1	2	2	2	2	0	3	1	4	0	3	6	5			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr11:108068119A>G	ENST00000278612.8	-	2	171	c.66T>C	c.(64-66)tcT>tcC	p.S22S	NPAT_ENST00000610253.1_5'UTR	NM_002519.2	NP_002510.2	Q14207	NPAT_HUMAN	nuclear protein, ataxia-telangiectasia locus	22	Interaction with MIZF.|LisH. {ECO:0000255|PROSITE- ProRule:PRU00126}.|Required for activation of histone gene transcription and interaction with MIZF.			S -> Y (in Ref. 6; AAB02735). {ECO:0000305}.	positive regulation of transcription, DNA-templated (GO:0045893)|regulation of gene expression (GO:0010468)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|transcription, DNA-templated (GO:0006351)	Cajal body (GO:0015030)|cytoplasm (GO:0005737)|Gemini of coiled bodies (GO:0097504)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(21)|ovary(2)|prostate(2)|skin(5)	46		all_cancers(61;2.31e-10)|all_epithelial(67;1.11e-06)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		BRCA - Breast invasive adenocarcinoma(274;1.05e-05)|Epithelial(105;3.01e-05)|all cancers(92;0.000816)|Colorectal(284;0.116)		TCTGGCAGGTAGAAATGAGGT	0.308																																						ENST00000278612.8																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(21)|ovary(2)|prostate(2)|skin(5)	46						c.(64-66)tcT>tcC		nuclear protein, ataxia-telangiectasia locus							93	93	93					11																	108068119		1797	4056	5853	SO:0001819	synonymous_variant	4863				positive regulation of transcription, DNA-dependent|regulation of transcription involved in G1/S phase of mitotic cell cycle	Cajal body	protein C-terminus binding|protein N-terminus binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity	g.chr11:108068119A>G	X97186	CCDS41710.1	11q22-q23	2008-02-01			ENSG00000149308	ENSG00000149308			7896	protein-coding gene	gene with protein product		601448				9205109	Standard	NM_002519		Approved	E14	uc001pjz.4	Q14207	OTTHUMG00000166385	ENST00000278612.8:c.66T>C	11.37:g.108068119A>G							p.S22S	NM_002519.2	NP_002510.2	Q14207	NPAT_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.05e-05)|Epithelial(105;3.01e-05)|all cancers(92;0.000816)|Colorectal(284;0.116)	2	171	-		all_cancers(61;2.31e-10)|all_epithelial(67;1.11e-06)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)	22	S -> Y (in Ref. 6; AAB02735).		Interaction with MIZF.|LisH.|Required for activation of histone gene transcription and interaction with MIZF.		A8K1V5|A8K6M2|Q13632|Q14967|Q16580|Q86W55|Q8IWE9	Silent	SNP	ENST00000278612.8	37	c.66T>C	CCDS41710.1																																																																																				0.308	NPAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389506.2	NM_002519		12	65	0	0	0	1	0	12	65					G	108068119	A	G	108068119	2	3	94	1	0	0	0	0	0	0	0	1	10566	407	15	4		4	NPAT	11	108068119	Silent	SNP	A	TCGA-EJ-7782-01A-11D-2114-08	14596666	108068119	26938397	285	5104											
MLL	4297	broad.mit.edu	37	chr11	118343381	118343381	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttcaggtacttcctgaggagCggagcgatacccctgaagtt	9	10	12	10	2	1	2	1	2	0	0	2	5	2	4	3	3	4	2	3	3	3	5			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr11:118343381C>T	ENST00000389506.5	+	3	1507	c.1507C>T	c.(1507-1509)Cgg>Tgg	p.R503W	KMT2A_ENST00000534358.1_Missense_Mutation_p.R503W|KMT2A_ENST00000354520.4_Missense_Mutation_p.R503W			Q03164	KMT2A_HUMAN	lysine (K)-specific methyltransferase 2A	503					anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|DNA methylation (GO:0006306)|embryonic hemopoiesis (GO:0035162)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|histone H4-K16 acetylation (GO:0043984)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cellular response to drug (GO:2001040)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transporter activity (GO:0032411)|protein complex assembly (GO:0006461)|regulation of histone H3-K4 methylation (GO:0051569)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|histone methyltransferase complex (GO:0035097)|MLL1 complex (GO:0071339)|nucleus (GO:0005634)	AT DNA binding (GO:0003680)|chromatin binding (GO:0003682)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|identical protein binding (GO:0042802)|lysine-acetylated histone binding (GO:0070577)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|unmethylated CpG binding (GO:0045322)|zinc ion binding (GO:0008270)										TCCTGAGGAGCGGAGCGATAC	0.502																																						ENST00000534358.1																			0											c.(1507-1509)Cgg>Tgg		lysine (K)-specific methyltransferase 2A							114	120	118					11																	118343381		2200	4296	6496	SO:0001583	missense	4297							g.chr11:118343381C>T	L04284	CCDS31686.1, CCDS55791.1	11q23	2014-09-17	2013-05-09	2013-05-09	ENSG00000118058	ENSG00000118058		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	7132	protein-coding gene	gene with protein product		159555	"myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog)", "myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila)"	MLL		1720549	Standard	NM_001197104		Approved	TRX1, HRX, ALL-1, HTRX1, CXXC7, MLL1A		Q03164	OTTHUMG00000166337	ENST00000389506.5:c.1507C>T	11.37:g.118343381C>T	ENSP00000374157:p.Arg503Trp					KMT2A_ENST00000354520.4_Missense_Mutation_p.R503W|KMT2A_ENST00000389506.5_Missense_Mutation_p.R503W	p.R503W	NM_001197104.1|NM_005933.3	NP_001184033.1|NP_005924.2					3	1530	+								E9PQG7|Q13743|Q13744|Q14845|Q16364|Q59FF2|Q6UBD1|Q9HBJ3|Q9UD94|Q9UMA3	Missense_Mutation	SNP	ENST00000389506.5	37	c.1507C>T	CCDS31686.1	.	.	.	.	.	.	.	.	.	.	C	8.337	0.827840	0.16749	.	.	ENSG00000118058	ENST00000534358;ENST00000531904;ENST00000389506;ENST00000354520	D;T;D;D	0.82433	-1.61;3.35;-1.61;-1.58	5.13	4.21	0.49690	.	0.142736	0.49305	D	0.000158	T	0.68641	0.3023	N	0.19112	0.55	0.36192	D	0.850118	D;D;D	0.59357	0.985;0.985;0.979	B;B;B	0.37508	0.232;0.232;0.252	T	0.77264	-0.2652	10	0.72032	D	0.01	.	11.6189	0.51106	0.1399:0.7255:0.1347:0.0	.	503;503;536	E9PQG7;Q03164;E9PR05	.;MLL1_HUMAN;.	W	503;536;503;503	ENSP00000436786:R503W;ENSP00000432391:R536W;ENSP00000374157:R503W;ENSP00000346516:R503W	ENSP00000346516:R503W	R	+	1	2	MLL	117848591	1.000000	0.71417	0.986000	0.45419	0.987000	0.75469	2.395000	0.44459	1.272000	0.44329	0.491000	0.48974	CGG		0.502	KMT2A-015	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399085.2	NM_005933		22	103	0	0	0	1	0	22	103					T	118343381	C	T	118343381	3	4	94	1	0	0	0	0	1	0	0	0	9620	759	27	1	1517	1	MLL	11	118343381	Missense_Mutation	SNP	C	TCGA-EJ-7782-01A-11D-2114-08	10275262	118343381	16663135	286	5105											
PRDM10	56980	broad.mit.edu	37	chr11	129800950	129800950	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cgcatgtcgtcggctgtcagCgtgctctgggtgggcaccac	4	9	15	13	4	2	0	1	0	1	0	4	0	2	0	1	3	2	4	1	3	0	0			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr11:129800950C>T	ENST00000360871.3	-	11	1722	c.1491G>A	c.(1489-1491)acG>acA	p.T497T	PRDM10_ENST00000528746.1_Silent_p.T471T|PRDM10_ENST00000423662.2_Silent_p.T411T|PRDM10_ENST00000526082.1_Silent_p.T411T|PRDM10_ENST00000358825.5_Silent_p.T497T|PRDM10_ENST00000304538.6_Silent_p.T411T	NM_199437.1	NP_955469.1	Q9NQV6	PRD10_HUMAN	PR domain containing 10	497					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)			breast(2)|endometrium(6)|kidney(3)|large_intestine(14)|lung(15)|pancreas(2)|skin(1)|stomach(3)|urinary_tract(2)	48	all_hematologic(175;0.0537)	Breast(109;0.000496)|Lung NSC(97;0.000693)|all_lung(97;0.00151)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0174)|Lung(977;0.176)|LUSC - Lung squamous cell carcinoma(976;0.185)		CGGCTGTCAGCGTGCTCTGGG	0.622																																						ENST00000358825.5																			0				breast(2)|endometrium(6)|kidney(3)|large_intestine(14)|lung(15)|pancreas(2)|skin(1)|stomach(3)|urinary_tract(2)	48						c.(1489-1491)acG>acA		PR domain containing 10							142	131	135					11																	129800950		2201	4297	6498	SO:0001819	synonymous_variant	56980				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr11:129800950C>T	AF275817	CCDS8484.1, CCDS8485.1, CCDS44771.1, CCDS44772.1	11q24.3	2013-01-08			ENSG00000170325	ENSG00000170325		"Zinc fingers, C2H2-type"	13995	protein-coding gene	gene with protein product	"PRDM zinc finger transcription factor", "PR-domain family member 7", "tristanin"					12175877	Standard	NM_020228		Approved	KIAA1231, PFM7, MGC131802	uc001qfm.3	Q9NQV6	OTTHUMG00000165762	ENST00000360871.3:c.1491G>A	11.37:g.129800950C>T						PRDM10_ENST00000423662.2_Silent_p.T411T|PRDM10_ENST00000528746.1_Silent_p.T471T|PRDM10_ENST00000526082.1_Silent_p.T411T|PRDM10_ENST00000304538.6_Silent_p.T411T|PRDM10_ENST00000360871.3_Silent_p.T497T	p.T497T	NM_020228.2	NP_064613.2	Q9NQV6	PRD10_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.0174)|Lung(977;0.176)|LUSC - Lung squamous cell carcinoma(976;0.185)	11	1722	-	all_hematologic(175;0.0537)	Breast(109;0.000496)|Lung NSC(97;0.000693)|all_lung(97;0.00151)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)	497					B7ZL71|G3XAE5|J3KP23|Q17R90|Q2KHR4|Q863Z2|Q9NXI4|Q9ULI9	Silent	SNP	ENST00000360871.3	37	c.1491G>A	CCDS8484.1																																																																																				0.622	PRDM10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386076.1	NM_199437		14	56	0	0	0	1	0	14	56					T	129800950	C	T	129800950	2	4	94	1	0	0	0	0	0	0	0	1	12451	755	27	1		1	PRDM10	11	129800950	Silent	SNP	C	TCGA-EJ-7782-01A-11D-2114-08	11457569	129800950	5205566	287	5106											
SLC6A13	6540	broad.mit.edu	37	chr12	346452	346452	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcagagatcttcaagacccGccgcctggggagagaagggt	11	6	14	10	2	3	3	2	0	1	3	3	6	3	4	3	3	0	0	3	3	2	1	rs374740428		TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr12:346452G>A	ENST00000343164.4	-	6	620	c.568C>T	c.(568-570)Cgg>Tgg	p.R190W	SLC6A13_ENST00000445055.2_Missense_Mutation_p.R98W	NM_016615.4	NP_057699.2	Q9NSD5	S6A13_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 13	190					neurotransmitter secretion (GO:0007269)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	gamma-aminobutyric acid:sodium symporter activity (GO:0005332)|neurotransmitter:sodium symporter activity (GO:0005328)			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(1)	28	all_cancers(10;0.0416)|all_epithelial(11;0.0537)|all_lung(10;0.0989)|Lung NSC(10;0.139)|Ovarian(42;0.142)		OV - Ovarian serous cystadenocarcinoma(31;0.00153)|BRCA - Breast invasive adenocarcinoma(9;0.239)			TTCAAGACCCGCCGCCTGGGG	0.617													G|||	1	0.000199681	8e-04	0	5008	,	,		17929	0		0	False		,,,				2504	0					ENST00000343164.4																			0				NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(1)	28						c.(568-570)Cgg>Tgg		solute carrier family 6 (neurotransmitter transporter), member 13		G	TRP/ARG,TRP/ARG	0,4406		0,0,2203	48	54	52		292,568	4.6	1	12		52	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	SLC6A13	NM_001190997.2,NM_016615.4	101,101	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging	98/511,190/603	346452	1,13005	2203	4300	6503	SO:0001583	missense	6540				neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity	g.chr12:346452G>A	U76343	CCDS8502.1, CCDS53729.1, CCDS58198.1	12p13.33	2013-07-19	2013-07-19		ENSG00000010379	ENSG00000010379		"Solute carriers"	11046	protein-coding gene	gene with protein product	"GABA transporter 2"	615097	"solute carrier family 6 (neurotransmitter transporter, GABA), member 13"				Standard	NM_001243392		Approved	GAT2	uc001qic.2	Q9NSD5	OTTHUMG00000168053	ENST00000343164.4:c.568C>T	12.37:g.346452G>A	ENSP00000339260:p.Arg190Trp					SLC6A13_ENST00000445055.2_Missense_Mutation_p.R98W	p.R190W	NM_016615.4	NP_057699.2	Q9NSD5	S6A13_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00153)|BRCA - Breast invasive adenocarcinoma(9;0.239)		6	620	-	all_cancers(10;0.0416)|all_epithelial(11;0.0537)|all_lung(10;0.0989)|Lung NSC(10;0.139)|Ovarian(42;0.142)		190					B4DJL1|Q8TCC2|Q8WW56	Missense_Mutation	SNP	ENST00000343164.4	37	c.568C>T	CCDS8502.1	.	.	.	.	.	.	.	.	.	.	G	19.44	3.828245	0.71143	0.0	1.16E-4	ENSG00000010379	ENST00000445055;ENST00000313154;ENST00000343164;ENST00000546319	T;T;T	0.75260	-0.92;-0.92;-0.92	5.48	4.58	0.56647	.	0.000000	0.85682	D	0.000000	D	0.89157	0.6635	M	0.93507	3.425	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.998;0.998	D	0.91300	0.5066	10	0.51188	T	0.08	.	14.8879	0.70584	0.0:0.0:0.6722:0.3278	.	98;169;190	B4DJL1;B4DJS3;Q9NSD5	.;.;S6A13_HUMAN	W	98;169;190;98	ENSP00000407104:R98W;ENSP00000339260:R190W;ENSP00000444606:R98W	ENSP00000318097:R169W	R	-	1	2	SLC6A13	216713	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.579000	0.36536	1.534000	0.49203	0.638000	0.83543	CGG		0.617	SLC6A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397801.1	NM_016615		18	39	0	0	0	1	0	18	39					A	346452	G	A	346452	3	1	94	1	0	0	0	0	1	0	0	0	14676	1086	38	1	1280	1	SLC6A13	12	346452	Missense_Mutation	SNP	G	TCGA-EJ-7782-01A-11D-2114-08		346452	133505443	288	5107											
DYRK4	8798	broad.mit.edu	37	chr12	4705340	4705340	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcatgatcacattgcctaccGctatgaagttctggagacaa	12	10	9	10	1	2	3	1	2	1	1	2	4	2	3	2	1	2	3	2	1	4	4			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr12:4705340G>A	ENST00000540757.2	+	5	468	c.308G>A	c.(307-309)cGc>cAc	p.R103H	DYRK4_ENST00000010132.5_Missense_Mutation_p.R103H|DYRK4_ENST00000543431.1_Missense_Mutation_p.R103H	NM_001282285.1|NM_001282286.1|NM_003845.1	NP_001269214.1|NP_001269215.1|NP_003836.1	Q9NR20	DYRK4_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 4	103						cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)			central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27			Colorectal(7;0.103)			ATTGCCTACCGCTATGAAGTT	0.552																																						ENST00000540757.2																			0				central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27						c.(307-309)cGc>cAc		dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 4							137	141	140					12																	4705340		2203	4300	6503	SO:0001583	missense	8798					Golgi apparatus	ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr12:4705340G>A	Y09305	CCDS8530.1	12p13.32	2014-09-11			ENSG00000010219	ENSG00000010219			3095	protein-coding gene	gene with protein product		609181				9748265	Standard	NM_003845		Approved		uc001qmx.3	Q9NR20	OTTHUMG00000168204	ENST00000540757.2:c.308G>A	12.37:g.4705340G>A	ENSP00000441755:p.Arg103His					DYRK4_ENST00000543431.1_Missense_Mutation_p.R103H|DYRK4_ENST00000010132.5_Missense_Mutation_p.R103H	p.R103H	NM_003845.1	NP_003836.1	Q9NR20	DYRK4_HUMAN	Colorectal(7;0.103)		5	468	+			103					A8K8F7|Q8NEF2|Q92631	Missense_Mutation	SNP	ENST00000540757.2	37	c.308G>A	CCDS8530.1	.	.	.	.	.	.	.	.	.	.	G	35	5.490276	0.96339	.	.	ENSG00000010219	ENST00000542744;ENST00000540757;ENST00000010132;ENST00000543431	T;T;T;T	0.22945	1.93;1.93;1.93;1.93	5.58	5.58	0.84498	Protein kinase-like domain (1);	0.000000	0.85682	D	0.000000	T	0.63319	0.2501	M	0.92880	3.355	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	T	0.72554	-0.4258	10	0.87932	D	0	.	19.1806	0.93622	0.0:0.0:1.0:0.0	.	218;103;103	F5H6L9;Q9NR20-2;Q9NR20	.;.;DYRK4_HUMAN	H	218;103;103;103	ENSP00000437534:R218H;ENSP00000441755:R103H;ENSP00000010132:R103H;ENSP00000439697:R103H	ENSP00000010132:R103H	R	+	2	0	DYRK4	4575601	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	9.566000	0.98157	2.629000	0.89072	0.655000	0.94253	CGC		0.552	DYRK4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000398780.2			13	99	0	0	0	1	0	13	99					A	4705340	G	A	4705340	3	1	94	1	0	0	0	0	1	0	0	0	4858	1087	38	1	318	1	DYRK4	12	4705340	Missense_Mutation	SNP	G	TCGA-EJ-7782-01A-11D-2114-08	4358888	4705340	129146555	289	5108											
VWF	7450	broad.mit.edu	37	chr12	6135163	6135163	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaggttgctgctggtgaggTcattgttctggatgccatca	6	13	15	7	0	3	1	2	1	1	0	3	3	3	3	1	5	3	4	1	5	0	3			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr12:6135163T>A	ENST00000261405.5	-	23	3271	c.3017A>T	c.(3016-3018)gAc>gTc	p.D1006V		NM_000552.3	NP_000543	P04275	VWF_HUMAN	von Willebrand factor	1006	VWFD 3. {ECO:0000255|PROSITE- ProRule:PRU00580}.				blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|cell-substrate adhesion (GO:0031589)|extracellular matrix organization (GO:0030198)|hemostasis (GO:0007599)|liver development (GO:0001889)|placenta development (GO:0001890)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|protein homooligomerization (GO:0051260)|response to wounding (GO:0009611)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|proteinaceous extracellular matrix (GO:0005578)|Weibel-Palade body (GO:0033093)	chaperone binding (GO:0051087)|collagen binding (GO:0005518)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|immunoglobulin binding (GO:0019865)|integrin binding (GO:0005178)|protease binding (GO:0002020)|protein homodimerization activity (GO:0042803)|protein N-terminus binding (GO:0047485)			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	GCTGGTGAGGTCATTGTTCTG	0.527																																						ENST00000261405.5																			0				NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129						c.(3016-3018)gAc>gTc		von Willebrand factor	Antihemophilic Factor(DB00025)						114	105	108					12																	6135163		2203	4300	6503	SO:0001583	missense	7450				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding	g.chr12:6135163T>A		CCDS8539.1	12p13.3	2014-09-17			ENSG00000110799	ENSG00000110799		"Endogenous ligands"	12726	protein-coding gene	gene with protein product		613160		F8VWF		2251280	Standard	NM_000552		Approved		uc001qnn.1	P04275	OTTHUMG00000168265	ENST00000261405.5:c.3017A>T	12.37:g.6135163T>A	ENSP00000261405:p.Asp1006Val						p.D1006V	NM_000552.3	NP_000543.2	P04275	VWF_HUMAN			23	3271	-			1006			VWFD 3.		Q8TCE8|Q99806	Missense_Mutation	SNP	ENST00000261405.5	37	c.3017A>T	CCDS8539.1	.	.	.	.	.	.	.	.	.	.	T	21.9	4.215643	0.79352	.	.	ENSG00000110799	ENST00000261405	T	0.75050	-0.9	4.84	4.84	0.62591	von Willebrand factor, type D domain (3);	0.000000	0.44902	D	0.000407	D	0.91157	0.7215	H	0.98295	4.195	0.80722	D	1	D	0.76494	0.999	D	0.77004	0.989	D	0.94180	0.7431	10	0.87932	D	0	.	13.756	0.62937	0.0:0.0:0.0:1.0	.	1006	P04275	VWF_HUMAN	V	1006	ENSP00000261405:D1006V	ENSP00000261405:D1006V	D	-	2	0	VWF	6005424	1.000000	0.71417	0.998000	0.56505	0.994000	0.84299	7.507000	0.81676	2.027000	0.59764	0.459000	0.35465	GAC		0.527	VWF-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399020.1	NM_000552		15	47	0	0	0	1	0	15	47					A	6135163	T	A	6135163	3	1	94	1	0	0	0	0	1	0	0	0	17243	1667	58	5	5544	5	VWF	12	6135163	Missense_Mutation	SNP	T	TCGA-EJ-7782-01A-11D-2114-08	1429823	6135163	127716732	290	5109											
PPFIBP1	8496	broad.mit.edu	37	chr12	27829391	27829391	+	Frame_Shift_Del	DEL	G	G	-																															cggcagaaagcaggccatttGggacccttcctcccaggccc																										TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr12:27829391delG	ENST00000318304.8	+	18	1775	c.1492delG	c.(1492-1494)gggfs	p.G498fs	PPFIBP1_ENST00000228425.6_Frame_Shift_Del_p.G481fs|PPFIBP1_ENST00000537927.1_Frame_Shift_Del_p.G345fs|PPFIBP1_ENST00000542629.1_Frame_Shift_Del_p.G467fs	NM_001198916.1|NM_177444.2	NP_001185845.1|NP_803193	Q86W92	LIPB1_HUMAN	PTPRF interacting protein, binding protein 1 (liprin beta 1)	498					cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)			PPFIBP1/ALK(3)	central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(13)|prostate(2)|skin(1)	32	Lung SC(9;0.0873)					CAGGCCATTTGGGACCCTTCC	0.552																																						ENST00000318304.8																		PPFIBP1/ALK(3)	0				central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(13)|prostate(2)|skin(1)	32						c.(1492-1494)ggfs		PTPRF interacting protein, binding protein 1 (liprin beta 1)							69	72	71					12																	27829391		2203	4300	6503	SO:0001589	frameshift_variant	8496				cell adhesion	plasma membrane	protein binding	g.chr12:27829391delG	AF034802	CCDS8713.1, CCDS55812.1, CCDS55813.1, CCDS55814.1	12p12.1	2013-01-10						"Sterile alpha motif (SAM) domain containing"	9249	protein-coding gene	gene with protein product		603141				9624153, 11836260	Standard	NM_003622		Approved	L2, hSGT2, hSgt2p, SGT2	uc001ric.2	Q86W92		ENST00000318304.8:c.1492delG	12.37:g.27829391delG	ENSP00000314724:p.Gly498fs					PPFIBP1_ENST00000542629.1_Frame_Shift_Del_p.G467fs|PPFIBP1_ENST00000537927.1_Frame_Shift_Del_p.G345fs|PPFIBP1_ENST00000228425.6_Frame_Shift_Del_p.G481fs	p.G498fs	NM_001198916.1|NM_177444.2	NP_001185845.1|NP_803193.2	Q86W92	LIPB1_HUMAN			18	1775	+	Lung SC(9;0.0873)		498					O75336|Q86X70|Q9NY03|Q9ULJ0	Frame_Shift_Del	DEL	ENST00000318304.8	37	c.1492delG	CCDS55812.1																																																																																				0.552	PPFIBP1-007	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402877.1	NM_003622		22	55						22	55	---	---	---	---	-	27829391	G	-	27829391	7	5	94	1	0	1	0	1	0	0	0	0	12313	1348	47	0	1545	0	PPFIBP1	12	27829391	Frame_Shift_Del	DEL	G	TCGA-EJ-7782-01A-11D-2114-08	21694228	27829391	106022504	291	5110											
PPFIBP1	8496	broad.mit.edu	37	chr12	27832572	27832572	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tatcatgaaactctttggaaAgtaagtaaagcagtaaacaa	19	10	7	5	0	2	1	1	1	1	0	2	2	2	2	0	1	3	4	0	1	9	5			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr12:27832572A>G	ENST00000318304.8	+	19	2067	c.1784A>G	c.(1783-1785)aAa>aGa	p.K595R	PPFIBP1_ENST00000228425.6_Splice_Site_p.K589R|PPFIBP1_ENST00000537927.1_Splice_Site_p.K442R|PPFIBP1_ENST00000542629.1_Splice_Site_p.K564R	NM_001198916.1|NM_177444.2	NP_001185845.1|NP_803193	Q86W92	LIPB1_HUMAN	PTPRF interacting protein, binding protein 1 (liprin beta 1)	595					cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)			PPFIBP1/ALK(3)	central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(13)|prostate(2)|skin(1)	32	Lung SC(9;0.0873)					CTCTTTGGAAAGTAAGTAAAG	0.438																																						ENST00000318304.8																		PPFIBP1/ALK(3)	0				central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(13)|prostate(2)|skin(1)	32						c.e19+1		PTPRF interacting protein, binding protein 1 (liprin beta 1)							90	95	93					12																	27832572		2203	4300	6503	SO:0001630	splice_region_variant	8496				cell adhesion	plasma membrane	protein binding	g.chr12:27832572A>G	AF034802	CCDS8713.1, CCDS55812.1, CCDS55813.1, CCDS55814.1	12p12.1	2013-01-10						"Sterile alpha motif (SAM) domain containing"	9249	protein-coding gene	gene with protein product		603141				9624153, 11836260	Standard	NM_003622		Approved	L2, hSGT2, hSgt2p, SGT2	uc001ric.2	Q86W92		ENST00000318304.8:c.1784+1A>G	12.37:g.27832572A>G						PPFIBP1_ENST00000228425.6_Splice_Site_p.K589_splice|PPFIBP1_ENST00000542629.1_Splice_Site_p.K564_splice|PPFIBP1_ENST00000537927.1_Splice_Site_p.K442_splice	p.K595_splice	NM_001198916.1|NM_177444.2	NP_001185845.1|NP_803193.2	Q86W92	LIPB1_HUMAN			19	2067	+	Lung SC(9;0.0873)		595					O75336|Q86X70|Q9NY03|Q9ULJ0	Splice_Site	SNP	ENST00000318304.8	37	c.1784_splice	CCDS55812.1	.	.	.	.	.	.	.	.	.	.	A	13.24	2.178814	0.38511	.	.	ENSG00000110841	ENST00000540114;ENST00000537927;ENST00000318304;ENST00000542629;ENST00000228425	T;T;T;T;T	0.77750	-1.12;-1.12;-1.12;-1.12;-1.12	5.8	2.28	0.28536	.	0.000000	0.36338	U	0.002648	T	0.61426	0.2346	N	0.20986	0.625	0.49051	D	0.999743	B;B;B;B;B	0.09022	0.001;0.002;0.001;0.002;0.001	B;B;B;B;B	0.19946	0.027;0.003;0.002;0.009;0.005	T	0.52147	-0.8614	10	0.42905	T	0.14	-14.1126	6.8786	0.24160	0.5898:0.0:0.4102:0.0	.	442;426;595;589;564	Q86W92-3;F5GZP6;Q86W92;Q86W92-2;Q86W92-4	.;.;LIPB1_HUMAN;.;.	R	426;442;595;564;589	ENSP00000444304:K426R;ENSP00000445425:K442R;ENSP00000314724:K595R;ENSP00000443442:K564R;ENSP00000228425:K589R	ENSP00000228425:K589R	K	+	2	0	PPFIBP1	27723839	0.599000	0.26891	1.000000	0.80357	0.986000	0.74619	-0.045000	0.12003	0.475000	0.27415	0.533000	0.62120	AAA		0.438	PPFIBP1-007	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402877.1	NM_003622	Missense_Mutation	9	68	0	0	0	1	0	9	68					G	27832572	A	G	27832572	5	3	94	1	0	0	0	0	0	0	1	0	12313	86	3	4	1878	4	PPFIBP1	12	27832572	Splice_Site	SNP	A	TCGA-EJ-7782-01A-11D-2114-08	3181	27832572	106019323	292	5111											
PPHLN1	51535	broad.mit.edu	37	chr12	42778750	42778750	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acctttccatagagtccgtgCgtcctggtgcctcctacaaa	8	11	8	14	2	0	1	0	0	0	1	4	1	4	1	6	1	3	0	6	1	3	3	rs144485658		TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr12:42778750C>T	ENST00000395568.2	+	6	604	c.520C>T	c.(520-522)Cgt>Tgt	p.R174C	PPHLN1_ENST00000337898.6_Missense_Mutation_p.R119C|PPHLN1_ENST00000256678.8_Intron|PPHLN1_ENST00000449194.2_Intron|PPHLN1_ENST00000317560.9_Intron|PPHLN1_ENST00000552761.1_Missense_Mutation_p.R126C|PPHLN1_ENST00000358314.7_Missense_Mutation_p.R174C|PPHLN1_ENST00000432191.2_Missense_Mutation_p.R119C|PPHLN1_ENST00000395580.3_Missense_Mutation_p.R181C|PPHLN1_ENST00000549190.1_Missense_Mutation_p.R192C	NM_016488.6	NP_057572.5	Q8NEY8	PPHLN_HUMAN	periphilin 1	174	Ser-rich.				keratinization (GO:0031424)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.R174C(2)		breast(5)|kidney(1)|large_intestine(4)|lung(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	16	all_cancers(12;0.00049)|Breast(8;0.165)	Lung NSC(34;0.123)		GBM - Glioblastoma multiforme(48;0.0875)		AGAGTCCGTGCGTCCTGGTGC	0.498													C|||	1	0.000199681	8e-04	0	5008	,	,		20599	0		0	False		,,,				2504	0					ENST00000432191.2																			2	Substitution - Missense(2)	p.R174C(2)	large_intestine(2)	breast(5)|kidney(1)|large_intestine(4)|lung(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	16						c.(355-357)Cgt>Tgt		periphilin 1		C	CYS/ARG,,,CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	124	105	111		355,,,520,376,520,376,541	4.5	0.8	12	dbSNP_134	111	0,8600		0,0,4300	no	missense,intron,intron,missense,missense,missense,missense,missense	PPHLN1	NM_001143787.1,NM_001143788.1,NM_001143789.1,NM_016488.6,NM_201438.1,NM_201439.1,NM_201440.1,NM_201515.1	180,,,180,180,180,180,180	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign,,,benign,benign,benign,benign,benign	119/435,,,174/459,126/259,174/368,126/320,181/375	42778750	1,13005	2203	4300	6503	SO:0001583	missense	51535				keratinization	cytoplasm|nucleus		g.chr12:42778750C>T	AY157850	CCDS8741.1, CCDS31777.1, CCDS41773.1, CCDS44860.1, CCDS44861.1, CCDS55817.1	12q12	2006-10-24				ENSG00000134283			19369	protein-coding gene	gene with protein product		608150					Standard	NM_016488		Approved		uc001rng.1	Q8NEY8		ENST00000395568.2:c.520C>T	12.37:g.42778750C>T	ENSP00000378935:p.Arg174Cys					PPHLN1_ENST00000317560.9_Intron|PPHLN1_ENST00000395568.2_Missense_Mutation_p.R174C|PPHLN1_ENST00000449194.2_Intron|PPHLN1_ENST00000256678.8_Intron|PPHLN1_ENST00000337898.6_Missense_Mutation_p.R119C|PPHLN1_ENST00000395580.3_Missense_Mutation_p.R181C|PPHLN1_ENST00000358314.7_Missense_Mutation_p.R174C|PPHLN1_ENST00000549190.1_Missense_Mutation_p.R192C|PPHLN1_ENST00000552761.1_Missense_Mutation_p.R126C	p.R119C	NM_001143787.1	NP_001137259.1	Q8NEY8	PPHLN_HUMAN		GBM - Glioblastoma multiforme(48;0.0875)	5	427	+	all_cancers(12;0.00049)|Breast(8;0.165)	Lung NSC(34;0.123)	174					E9PAX8|Q86YT2|Q8IXN3|Q8TB09|Q96NB9|Q9NXL4|Q9P0P6|Q9P0R9	Missense_Mutation	SNP	ENST00000395568.2	37	c.355C>T	CCDS31777.1	.	.	.	.	.	.	.	.	.	.	C	19.56	3.850235	0.71719	2.27E-4	0.0	ENSG00000134283	ENST00000549190;ENST00000395580;ENST00000337898;ENST00000358314;ENST00000395568;ENST00000552761;ENST00000432191	.	.	.	5.4	4.49	0.54785	.	0.394307	0.23351	N	0.049131	T	0.65974	0.2743	L	0.47716	1.5	0.40396	D	0.97959	D;D;D;D;D;D;D	0.89917	0.997;1.0;0.999;0.999;0.998;0.998;0.998	P;D;P;P;P;P;P	0.65010	0.642;0.931;0.759;0.736;0.731;0.736;0.804	T	0.66089	-0.6010	9	0.41790	T	0.15	-1.0689	11.8718	0.52525	0.0:0.8248:0.1752:0.0	.	119;119;174;126;181;126;192	B7Z8L1;Q8NEY8-3;Q8NEY8;Q8NEY8-6;Q8NEY8-2;Q8NEY8-5;F8W0Q9	.;.;PPHLN_HUMAN;.;.;.;.	C	192;181;119;174;174;126;119	.	ENSP00000338510:R119C	R	+	1	0	PPHLN1	41065017	0.998000	0.40836	0.831000	0.32960	0.919000	0.55068	1.995000	0.40767	1.464000	0.47987	0.655000	0.94253	CGT		0.498	PPHLN1-010	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000404047.1	NM_201515		12	30	0	0	0	1	0	12	30					T	42778750	C	T	42778750	3	4	94	1	0	0	0	0	1	0	0	0	12315	768	27	1	563	1	PPHLN1	12	42778750	Missense_Mutation	SNP	C	TCGA-EJ-7782-01A-11D-2114-08	14946178	42778750	91073145	293	5112											
ARID2	196528	broad.mit.edu	37	chr12	46123836	46123837	+	Frame_Shift_Ins	INS	-	-	A																															tctcccgcaggtcgccttttINSaaaaaaatccctgcggtggg																										TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr12:46123836_46123837insA	ENST00000334344.6	+	2	274_275	c.102_103insA	c.(103-105)aaafs	p.K35fs	LINC00938_ENST00000609803.1_lincRNA|ARID2_ENST00000422737.1_5'UTR	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	35	ARID. {ECO:0000255|PROSITE- ProRule:PRU00355}.				chromatin modification (GO:0016568)|nucleosome disassembly (GO:0006337)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		GGTCGCCTTTTAAAAAAATCCC	0.624			"N, S, F"		hepatocellular carcinoma																																	ENST00000334344.6				Rec	yes		12	12q12	196528	"N, S, F"	AT rich interactive domain 2			E			hepatocellular carcinoma		0				NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116						c.(100-105)ttaaaafs		AT rich interactive domain 2 (ARID, RFX-like)																																				SO:0001589	frameshift_variant	196528				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr12:46123836_46123837insA		CCDS31783.1	12q13.11	2013-02-07			ENSG00000189079	ENSG00000189079		"-"	18037	protein-coding gene	gene with protein product		609539					Standard	NM_152641		Approved	KIAA1557, DKFZp686G052, FLJ30619, BAF200	uc001ros.1	Q68CP9	OTTHUMG00000150487	ENST00000334344.6:c.109dupA	12.37:g.46123843_46123843dupA	ENSP00000335044:p.Lys35fs					ARID2_ENST00000422737.1_5'UTR	p.LK34fs	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)	2	274_275	+	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	34			ARID.		Q15KG9|Q5EB51|Q645I3|Q6ZRY5|Q7Z3I5|Q86T28|Q96SJ6|Q9HCL5	Frame_Shift_Ins	INS	ENST00000334344.6	37	c.102_103insA	CCDS31783.1																																																																																				0.624	ARID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318380.2	XM_350875		7	8						7	8	---	---	---	---	A	46123837	-	A	46123836	7	5	94	1	0	1	1	0	0	0	0	0	915	1751	61	0	108	0	ARID2	12	46123836	Frame_Shift_Ins	INS	-	TCGA-EJ-7782-01A-11D-2114-08	3345086	46123836	87728059	294	5113											
ADCY6	112	broad.mit.edu	37	chr12	49169815	49169815	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ggaacccagcgcggcatcagCccttccatggagttggcccg	7	6	13	15	3	1	0	1	0	0	0	2	2	2	2	4	4	3	2	4	4	1	2			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr12:49169815C>T	ENST00000307885.4	-	8	2431	c.1737G>A	c.(1735-1737)ggG>ggA	p.G579G	ADCY6_ENST00000552090.1_5'UTR|ADCY6_ENST00000357869.3_Silent_p.G579G|ADCY6_ENST00000550422.1_Silent_p.G579G	NM_015270.3	NP_056085.1	O43306	ADCY6_HUMAN	adenylate cyclase 6	579					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cAMP biosynthetic process (GO:0006171)|cellular response to catecholamine stimulus (GO:0071870)|cellular response to glucagon stimulus (GO:0071377)|cellular response to prostaglandin E stimulus (GO:0071380)|dopamine receptor signaling pathway (GO:0007212)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|negative regulation of neuron projection development (GO:0010977)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cilium (GO:0005929)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)			breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(16)|prostate(1)|skin(1)|urinary_tract(1)	29						GCGGCATCAGCCCTTCCATGG	0.647																																						ENST00000307885.4																			0				breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(16)|prostate(1)|skin(1)|urinary_tract(1)	29						c.(1735-1737)ggG>ggA		adenylate cyclase 6							50	45	47					12																	49169815		2203	4299	6502	SO:0001819	synonymous_variant	112				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane	ATP binding|metal ion binding	g.chr12:49169815C>T		CCDS8767.1, CCDS8768.1	12q12-q13	2013-02-04				ENSG00000174233	4.6.1.1	"Adenylate cyclases"	237	protein-coding gene	gene with protein product		600294					Standard	NM_015270		Approved	AC6	uc001rsh.4	O43306		ENST00000307885.4:c.1737G>A	12.37:g.49169815C>T						ADCY6_ENST00000552090.1_5'UTR|ADCY6_ENST00000357869.3_Silent_p.G579G|ADCY6_ENST00000550422.1_Silent_p.G579G	p.G579G	NM_015270.3	NP_056085.1	O43306	ADCY6_HUMAN			8	2431	-			579					Q9NR75|Q9UDB0	Silent	SNP	ENST00000307885.4	37	c.1737G>A	CCDS8767.1																																																																																				0.647	ADCY6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408863.1	NM_020983		8	13	0	0	0	1	0	8	13					T	49169815	C	T	49169815	2	4	94	1	0	0	0	0	0	0	0	1	298	726	26	3		3	ADCY6	12	49169815	Silent	SNP	C	TCGA-EJ-7782-01A-11D-2114-08	3045979	49169815	84682080	295	5114											
MLL2	8085	broad.mit.edu	37	chr12	49445333	49445333	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agggacatgagcgagtcctcCggtggtggggaagcaggtga	9	6	19	7	2	0	2	0	2	0	0	2	5	2	4	2	6	2	1	2	6	1	0			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr12:49445333C>T	ENST00000301067.7	-	10	2132	c.2133G>A	c.(2131-2133)ccG>ccA	p.P711P		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	711	Pro-rich.			Missing (in Ref. 1; AAC51734). {ECO:0000305}.	chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)										GCGAGTCCTCCGGTGGTGGGG	0.677																																						ENST00000301067.7																			0											c.(2131-2133)ccG>ccA		lysine (K)-specific methyltransferase 2D							44	52	49					12																	49445333		2039	4188	6227	SO:0001819	synonymous_variant	8085							g.chr12:49445333C>T	AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	7133	protein-coding gene	gene with protein product		602113	"trinucleotide repeat containing 21", "myeloid/lymphoid or mixed-lineage leukemia 2"	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.2133G>A	12.37:g.49445333C>T							p.P711P	NM_003482.3	NP_003473.3					10	2132	-								O14687	Silent	SNP	ENST00000301067.7	37	c.2133G>A	CCDS44873.1																																																																																				0.677	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2			22	50	0	0	0	1	0	22	50					T	49445333	C	T	49445333	2	4	94	1	0	0	0	0	0	0	0	1	9621	639	23	2		2	MLL2	12	49445333	Silent	SNP	C	TCGA-EJ-7782-01A-11D-2114-08	275518	49445333	84406562	296	5115											
RACGAP1	29127	broad.mit.edu	37	chr12	50400278	50400278	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tctctacatccacctgattaCgtgcatgcttcagcttaaca	10	13	5	13	1	2	1	1	1	1	0	4	1	3	1	2	0	6	3	2	0	3	4			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr12:50400278C>T	ENST00000427314.2	-	5	450	c.227G>A	c.(226-228)cGt>cAt	p.R76H	RACGAP1_ENST00000312377.5_Missense_Mutation_p.R76H|RACGAP1_ENST00000547905.1_Missense_Mutation_p.R76H|RACGAP1_ENST00000551016.1_Missense_Mutation_p.R76H|RACGAP1_ENST00000454520.2_Missense_Mutation_p.R76H|RACGAP1_ENST00000434422.1_Missense_Mutation_p.R76H	NM_013277.3	NP_037409.2			Rac GTPase activating protein 1											cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(6)	14						CACCTGATTACGTGCATGCTT	0.478																																						ENST00000434422.1																			0				cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(6)	14						c.(226-228)cGt>cAt		Rac GTPase activating protein 1							228	185	200					12																	50400278		2203	4300	6503	SO:0001583	missense	29127				blood coagulation|cytokinesis, actomyosin contractile ring assembly|cytokinesis, initiation of separation|embryo development|microtubule-based movement|neuroblast proliferation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|spermatogenesis|sulfate transport	acrosomal vesicle|cytosol|microtubule|midbody|nucleus|spindle	alpha-tubulin binding|beta-tubulin binding|gamma-tubulin binding|GTPase activator activity|metal ion binding	g.chr12:50400278C>T		CCDS8795.1	12q13	2004-05-17				ENSG00000161800			9804	protein-coding gene	gene with protein product		604980				9497316	Standard	NM_013277		Approved	MgcRacGAP	uc001rvs.2	Q9H0H5		ENST00000427314.2:c.227G>A	12.37:g.50400278C>T	ENSP00000404190:p.Arg76His					RACGAP1_ENST00000427314.2_Missense_Mutation_p.R76H|RACGAP1_ENST00000454520.2_Missense_Mutation_p.R76H|RACGAP1_ENST00000551016.1_Missense_Mutation_p.R76H|RACGAP1_ENST00000547905.1_Missense_Mutation_p.R76H|RACGAP1_ENST00000312377.5_Missense_Mutation_p.R76H	p.R76H			Q9H0H5	RGAP1_HUMAN			4	528	-			76						Missense_Mutation	SNP	ENST00000427314.2	37	c.227G>A	CCDS8795.1	.	.	.	.	.	.	.	.	.	.	C	18.31	3.595715	0.66219	.	.	ENSG00000161800	ENST00000427314;ENST00000312377;ENST00000434422;ENST00000454520;ENST00000551016;ENST00000547905;ENST00000552310;ENST00000546595;ENST00000551145;ENST00000548824;ENST00000548644;ENST00000546723;ENST00000552921;ENST00000552157;ENST00000546764;ENST00000551876;ENST00000549777;ENST00000550651;ENST00000552004	D;D;D;D;D;D;D;D;D;T;T;T;T;D;T;T;T;T;T	0.82893	-1.66;-1.66;-1.66;-1.66;-1.66;-1.66;-1.66;-1.66;-1.66;-1.13;-1.13;-1.13;-1.13;-1.66;-1.13;-1.13;-1.13;-1.13;-1.13	5.48	5.48	0.80851	.	0.000000	0.85682	D	0.000000	T	0.79323	0.4426	L	0.59436	1.845	0.80722	D	1	P	0.42757	0.789	B	0.30943	0.122	T	0.82608	-0.0373	10	0.59425	D	0.04	-3.5486	19.3535	0.94401	0.0:1.0:0.0:0.0	.	76	Q9H0H5	RGAP1_HUMAN	H	76;76;76;76;76;76;76;18;18;76;88;76;76;18;76;76;76;76;76	ENSP00000404190:R76H;ENSP00000309871:R76H;ENSP00000413241:R76H;ENSP00000404808:R76H;ENSP00000449374:R76H;ENSP00000449370:R76H;ENSP00000448697:R76H;ENSP00000449963:R18H;ENSP00000450064:R18H;ENSP00000449170:R76H;ENSP00000449620:R88H;ENSP00000449669:R76H;ENSP00000447393:R76H;ENSP00000448968:R18H;ENSP00000447177:R76H;ENSP00000449186:R76H;ENSP00000448707:R76H;ENSP00000449959:R76H;ENSP00000448136:R76H	ENSP00000309871:R76H	R	-	2	0	RACGAP1	48686545	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.770000	0.85390	2.580000	0.87095	0.655000	0.94253	CGT		0.478	RACGAP1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405997.1	NM_013277		37	61	0	0	0	1	0	37	61					T	50400278	C	T	50400278	3	4	94	1	0	0	0	0	1	0	0	0	12977	536	19	1	1731	1	RACGAP1	12	50400278	Missense_Mutation	SNP	C	TCGA-EJ-7782-01A-11D-2114-08	954945	50400278	83451617	297	5116											
SCN8A	6334	broad.mit.edu	37	chr12	52156425	52156425	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggaactgagtctagcagacGtggaggggctttcagtgctg	8	10	16	7	1	2	2	1	1	1	1	2	4	2	4	0	4	3	3	0	4	2	2			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr12:52156425G>A	ENST00000354534.6	+	15	2687	c.2509G>A	c.(2509-2511)Gtg>Atg	p.V837M	SCN8A_ENST00000545061.1_Missense_Mutation_p.V837M|SCN8A_ENST00000550891.1_Missense_Mutation_p.V837M	NM_001177984.2|NM_014191.3	NP_001171455.1|NP_055006.1	Q9UQD0	SCN8A_HUMAN	sodium channel, voltage gated, type VIII, alpha subunit	837					adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|membrane depolarization during action potential (GO:0086010)|muscle organ development (GO:0007517)|myelination (GO:0042552)|nervous system development (GO:0007399)|neuromuscular process (GO:0050905)|neuronal action potential (GO:0019228)|peripheral nervous system development (GO:0007422)|response to toxic substance (GO:0009636)|sensory perception of sound (GO:0007605)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon initial segment (GO:0043194)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)|Z disc (GO:0030018)	ATP binding (GO:0005524)|voltage-gated sodium channel activity (GO:0005248)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55				BRCA - Breast invasive adenocarcinoma(357;0.181)	Valproic Acid(DB00313)	TCTAGCAGACGTGGAGGGGCT	0.413																																						ENST00000354534.5																			0				breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55						c.(2509-2511)Gtg>Atg		sodium channel, voltage gated, type VIII, alpha subunit	Lamotrigine(DB00555)						121	119	119					12																	52156425		1878	4130	6008	SO:0001583	missense	6334				axon guidance|myelination|peripheral nervous system development	cytoplasmic membrane-bounded vesicle|node of Ranvier	ATP binding|voltage-gated sodium channel activity	g.chr12:52156425G>A	AB027567	CCDS44891.1, CCDS53794.1	12q13.1	2012-02-26	2007-01-23			ENSG00000196876		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10596	protein-coding gene	gene with protein product		600702	"sodium channel, voltage gated, type VIII, alpha polypeptide"	MED		7670495, 9828131, 16382098	Standard	NM_014191		Approved	Nav1.6, NaCh6, PN4, CerIII	uc001ryw.4	Q9UQD0		ENST00000354534.6:c.2509G>A	12.37:g.52156425G>A	ENSP00000346534:p.Val837Met					SCN8A_ENST00000550891.1_Missense_Mutation_p.V837M|SCN8A_ENST00000545061.1_Missense_Mutation_p.V837M	p.V837M	NM_001177984.2|NM_014191.3	NP_001171455.1|NP_055006.1	Q9UQD0	SCN8A_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.181)	15	2687	+			837					B9VWG8|O95788|Q9NYX2|Q9UPB2	Missense_Mutation	SNP	ENST00000354534.6	37	c.2509G>A	CCDS44891.1	.	.	.	.	.	.	.	.	.	.	G	17.50	3.404043	0.62288	.	.	ENSG00000196876	ENST00000550891;ENST00000354534;ENST00000545061;ENST00000355133;ENST00000357961	D;D;D;D	0.98585	-5.01;-5.01;-5.01;-5.01	4.23	4.23	0.50019	Ion transport (1);	0.000000	0.64402	D	0.000001	D	0.98046	0.9356	L	0.37897	1.145	0.80722	D	1	D;D;D	0.89917	0.971;0.993;1.0	P;P;D	0.77557	0.576;0.713;0.99	D	0.97864	1.0282	10	0.40728	T	0.16	.	17.9135	0.88942	0.0:0.0:1.0:0.0	.	837;837;837	F8VWM7;F8VRN5;Q9UQD0	.;.;SCN8A_HUMAN	M	837;837;837;837;750	ENSP00000448415:V837M;ENSP00000346534:V837M;ENSP00000440360:V837M;ENSP00000347255:V837M	ENSP00000346534:V837M	V	+	1	0	SCN8A	50442692	1.000000	0.71417	0.994000	0.49952	0.973000	0.67179	9.601000	0.98297	2.632000	0.89209	0.455000	0.32223	GTG		0.413	SCN8A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404372.3	NM_014191		19	56	0	0	0	1	0	19	56					A	52156425	G	A	52156425	3	1	94	1	0	0	0	0	1	0	0	0	13924	1145	40	1	2563	1	SCN8A	12	52156425	Missense_Mutation	SNP	G	TCGA-EJ-7782-01A-11D-2114-08	1756147	52156425	81695470	298	5117											
ESYT1	23344	broad.mit.edu	37	chr12	56532267	56532267	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gctatccatctatatggagcGggcagaggacctcccggtga	9	8	13	11	2	1	2	0	1	1	1	3	4	3	4	3	4	1	2	3	4	3	3			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr12:56532267G>A	ENST00000394048.5	+	22	2681	c.2417G>A	c.(2416-2418)cGg>cAg	p.R806Q	ESYT1_ENST00000550878.1_3'UTR|ESYT1_ENST00000541590.1_Missense_Mutation_p.R816Q|ESYT1_ENST00000267113.4_Missense_Mutation_p.R816Q	NM_001184796.1|NM_015292.2	NP_001171725.1|NP_056107.1	Q9BSJ8	ESYT1_HUMAN	extended synaptotagmin-like protein 1	806	C2 4. {ECO:0000255|PROSITE- ProRule:PRU00041}.				lipid transport (GO:0006869)	integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)|metal ion binding (GO:0046872)			breast(2)|endometrium(2)|large_intestine(4)|lung(10)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1)	28						TATATGGAGCGGGCAGAGGAC	0.587																																						ENST00000394048.5																			0				breast(2)|endometrium(2)|large_intestine(4)|lung(10)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1)	28						c.(2416-2418)cGg>cAg		extended synaptotagmin-like protein 1							29	30	30					12																	56532267		2203	4300	6503	SO:0001583	missense	23344					integral to membrane		g.chr12:56532267G>A	AK074368	CCDS8904.1, CCDS53801.1	12q13.2	2014-07-02	2009-06-23	2009-06-23		ENSG00000139641		"Synaptotagmins"	29534	protein-coding gene	gene with protein product			"family with sequence similarity 62 (C2 domain containing), member A"	FAM62A		9872452, 10350628, 17672888	Standard	NM_015292		Approved	MBC2, KIAA0747	uc001sjr.3	Q9BSJ8		ENST00000394048.5:c.2417G>A	12.37:g.56532267G>A	ENSP00000377612:p.Arg806Gln					ESYT1_ENST00000267113.4_Missense_Mutation_p.R816Q|ESYT1_ENST00000541590.1_Missense_Mutation_p.R816Q|ESYT1_ENST00000550878.1_3'UTR	p.R806Q	NM_001184796.1|NM_015292.2	NP_001171725.1|NP_056107.1	Q9BSJ8	ESYT1_HUMAN			22	2681	+			806			C2 4.		A0FGR7|A8K2S2|O94848|Q6PJN4|Q9H6J1|Q9H6W2|Q9Y416	Missense_Mutation	SNP	ENST00000394048.5	37	c.2417G>A	CCDS8904.1	.	.	.	.	.	.	.	.	.	.	G	16.19	3.053778	0.55218	.	.	ENSG00000139641	ENST00000394048;ENST00000402331;ENST00000267113;ENST00000541590	T;T;T	0.69306	-0.39;-0.39;-0.39	5.38	4.47	0.54385	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	T	0.67144	0.2862	L	0.38953	1.18	0.46437	D	0.999044	B;D	0.76494	0.097;0.999	B;D	0.64144	0.012;0.922	T	0.62455	-0.6851	10	0.28530	T	0.3	-22.377	7.5469	0.27772	0.1781:0.0:0.8219:0.0	.	816;806	Q9BSJ8-2;Q9BSJ8	.;ESYT1_HUMAN	Q	806;760;816;816	ENSP00000377612:R806Q;ENSP00000267113:R816Q;ENSP00000445952:R816Q	ENSP00000267113:R816Q	R	+	2	0	ESYT1	54818534	0.999000	0.42202	0.998000	0.56505	0.749000	0.42624	3.395000	0.52558	2.682000	0.91365	0.561000	0.74099	CGG		0.587	ESYT1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000407906.1	NM_015292		4	21	0	0	0	1	0	4	21					A	56532267	G	A	56532267	3	1	94	1	0	0	0	0	1	0	0	0	5264	1116	39	2	2533	2	ESYT1	12	56532267	Missense_Mutation	SNP	G	TCGA-EJ-7782-01A-11D-2114-08	4375842	56532267	77319628	299	5118											
CNPY2	10330	broad.mit.edu	37	chr12	56705008	56705008	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agctcaccgcaaacttgaggGtgccgctaatatctgagtcg	10	9	11	11	3	2	2	1	2	1	0	3	2	2	2	2	1	3	3	2	1	3	3			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr12:56705008G>T	ENST00000273308.4	-	4	935	c.395C>A	c.(394-396)aCc>aAc	p.T132N	RP11-977G19.11_ENST00000549565.1_RNA|RP11-977G19.12_ENST00000546789.1_RNA|CNPY2_ENST00000551720.1_5'Flank|RP11-977G19.11_ENST00000549860.1_RNA|RP11-977G19.10_ENST00000549318.1_Missense_Mutation_p.T132N	NM_014255.5	NP_055070.1	Q9Y2B0	CNPY2_HUMAN	canopy FGF signaling regulator 2	132	Saposin B-type. {ECO:0000255|PROSITE- ProRule:PRU00415}.				negative regulation of gene expression (GO:0010629)|positive regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045716)|regulation of low-density lipoprotein particle clearance (GO:0010988)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)				large_intestine(2)|lung(2)	4						AAACTTGAGGGTGCCGCTAAT	0.493																																						ENST00000273308.4																			0				large_intestine(2)|lung(2)	4						c.(394-396)aCc>aAc		canopy FGF signaling regulator 2							217	207	211					12																	56705008		2203	4300	6503	SO:0001583	missense	10330					endoplasmic reticulum|integral to plasma membrane	protein binding	g.chr12:56705008G>T	AB015631	CCDS8914.1	12q15	2013-07-23	2013-07-23	2007-10-22		ENSG00000257727			13529	protein-coding gene	gene with protein product		605861	"transmembrane protein 4", "canopy 2 homolog (zebrafish)"	TMEM4		10072769, 15905959	Standard	NM_001190991		Approved	HP10390, ZSIG9, Cnpy2	uc001sku.2	Q9Y2B0	OTTHUMG00000170330	ENST00000273308.4:c.395C>A	12.37:g.56705008G>T	ENSP00000273308:p.Thr132Asn					RP11-977G19.11_ENST00000549565.1_RNA|RP11-977G19.10_ENST00000549318.1_Missense_Mutation_p.T132N|RP11-977G19.11_ENST00000549860.1_RNA	p.T132N	NM_014255.5	NP_055070.1	Q9Y2B0	CNPY2_HUMAN			4	935	-			132			Saposin B-type.		B2R7B9|Q9UHE9	Missense_Mutation	SNP	ENST00000273308.4	37	c.395C>A	CCDS8914.1	.	.	.	.	.	.	.	.	.	.	G	13.85	2.359380	0.41801	.	.	ENSG00000144785;ENSG00000257727;ENSG00000257727;ENSG00000257727	ENST00000549318;ENST00000273308;ENST00000551475;ENST00000551286	T;T;T;T	0.34472	1.36;1.36;1.36;1.36	5.29	4.34	0.51931	Saposin B (1);	0.099888	0.64402	D	0.000003	T	0.14313	0.0346	N	0.03608	-0.345	0.43099	D	0.994789	B	0.06786	0.001	B	0.04013	0.001	T	0.14254	-1.0479	10	0.20519	T	0.43	-14.9753	7.2035	0.25895	0.0965:0.2619:0.6416:0.0	.	132	Q9Y2B0	CNPY2_HUMAN	N	132;132;132;80	ENSP00000446743:T132N;ENSP00000273308:T132N;ENSP00000448809:T132N;ENSP00000446784:T80N	ENSP00000273308:T132N	T	-	2	0	RP11-977G19.10;CNPY2	54991275	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	3.001000	0.49488	2.648000	0.89879	0.561000	0.74099	ACC		0.493	CNPY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408546.1	NM_014255		51	90	1	0	1.00221e-16	1	1.08697e-16	51	90					T	56705008	G	T	56705008	3	4	94	1	0	0	0	0	1	0	0	0	3628	1261	44	5	165	5	CNPY2	12	56705008	Missense_Mutation	SNP	G	TCGA-EJ-7782-01A-11D-2114-08	172741	56705008	77146887	300	5119											
TIMELESS	8914	broad.mit.edu	37	chr12	56815747	56815747	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atggtggatgatctgcttgcGtgttcgaggaacagtattca	9	13	13	6	2	2	1	1	1	1	0	3	4	2	3	0	3	3	3	0	3	2	4			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr12:56815747G>A	ENST00000553532.1	-	21	2728	c.2578C>T	c.(2578-2580)Cgc>Tgc	p.R860C	TIMELESS_ENST00000229201.4_Missense_Mutation_p.R859C|TIMELESS_ENST00000554616.1_Missense_Mutation_p.R357C					timeless circadian clock											NS(1)|breast(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(8)|lung(14)|ovary(7)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	49						ATCTGCTTGCGTGTTCGAGGA	0.542																																						ENST00000229201.4																			0				NS(1)|breast(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(8)|lung(14)|ovary(7)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	49						c.(2575-2577)Cgc>Tgc		timeless circadian clock							141	125	130					12																	56815747		2203	4300	6503	SO:0001583	missense	8914				cell division|circadian rhythm|detection of abiotic stimulus|mitosis|morphogenesis of an epithelium|negative regulation of transcription, DNA-dependent|regulation of S phase|response to DNA damage stimulus|transcription, DNA-dependent	nuclear chromatin		g.chr12:56815747G>A	AF098162	CCDS8918.1	12q13.3	2012-12-14	2012-12-14		ENSG00000111602	ENSG00000111602			11813	protein-coding gene	gene with protein product	"Tof1 homolog (S. cerevisiae)", "timeless circadian clock 1"	603887	"timeless (Drosophila) homolog", "timeless homolog (Drosophila)"			9856465	Standard	NM_003920		Approved	hTIM, TIM, TIM1	uc001slf.2	Q9UNS1	OTTHUMG00000170600	ENST00000553532.1:c.2578C>T	12.37:g.56815747G>A	ENSP00000450607:p.Arg860Cys					TIMELESS_ENST00000553532.1_Missense_Mutation_p.R860C|TIMELESS_ENST00000554616.1_Missense_Mutation_p.R357C	p.R859C	NM_003920.3	NP_003911.2	Q9UNS1	TIM_HUMAN			21	2729	-			860						Missense_Mutation	SNP	ENST00000553532.1	37	c.2575C>T	CCDS8918.1	.	.	.	.	.	.	.	.	.	.	G	20.5	3.997439	0.74818	.	.	ENSG00000111602	ENST00000229201;ENST00000553532;ENST00000554616	T;T;T	0.18960	2.18;2.18;2.18	5.19	4.28	0.50868	Timeless C-terminal (1);	0.290510	0.38720	N	0.001597	T	0.47507	0.1449	M	0.78456	2.415	0.41058	D	0.985353	D	0.89917	1.0	D	0.97110	1.0	T	0.54483	-0.8287	10	0.87932	D	0	-5.3212	14.1666	0.65480	0.0:0.0:0.8483:0.1516	.	860	Q9UNS1	TIM_HUMAN	C	859;860;357	ENSP00000229201:R859C;ENSP00000450607:R860C;ENSP00000450848:R357C	ENSP00000229201:R860C	R	-	1	0	TIMELESS	55102014	1.000000	0.71417	0.959000	0.39883	0.610000	0.37248	7.980000	0.88113	1.293000	0.44690	0.555000	0.69702	CGC		0.542	TIMELESS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000409771.1	NM_003920		6	85	0	0	0	1	0	6	85					A	56815747	G	A	56815747	3	1	94	1	0	0	0	0	1	0	0	0	15901	1145	40	1	1084	1	TIMELESS	12	56815747	Missense_Mutation	SNP	G	TCGA-EJ-7782-01A-11D-2114-08	110739	56815747	77036148	301	5120											
STAT6	6778	broad.mit.edu	37	chr12	57499054	57499054	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	acctcaagcccaacaggaatCgaactccagcctggaacttg	13	6	8	14	1	1	0	1	0	0	0	3	3	2	2	4	2	5	0	4	2	5	1			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr12:57499054C>T	ENST00000300134.3	-	9	1206	c.881G>A	c.(880-882)cGa>cAa	p.R294Q	STAT6_ENST00000454075.3_Missense_Mutation_p.R294Q|STAT6_ENST00000556155.1_Missense_Mutation_p.R294Q|STAT6_ENST00000537215.2_Missense_Mutation_p.R184Q|STAT6_ENST00000538913.2_Missense_Mutation_p.R184Q|STAT6_ENST00000543873.2_Missense_Mutation_p.R294Q	NM_001178078.1|NM_003153.4	NP_001171549.1|NP_003144.3	P42226	STAT6_HUMAN	signal transducer and activator of transcription 6, interleukin-4 induced	294					cellular response to hydrogen peroxide (GO:0070301)|cellular response to reactive nitrogen species (GO:1902170)|innate immune response (GO:0045087)|interleukin-4-mediated signaling pathway (GO:0035771)|mammary gland epithelial cell proliferation (GO:0033598)|mammary gland morphogenesis (GO:0060443)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of type 2 immune response (GO:0002829)|positive regulation of isotype switching to IgE isotypes (GO:0048295)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of cell proliferation (GO:0042127)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|T-helper 1 cell lineage commitment (GO:0002296)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane raft (GO:0045121)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|protein phosphatase binding (GO:0019903)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(2)|lung(8)|ovary(4)|skin(1)	28						CAACAGGAATCGAACTCCAGC	0.622																																						ENST00000300134.3																			0				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(2)|lung(8)|ovary(4)|skin(1)	28						c.(880-882)cGa>cAa		signal transducer and activator of transcription 6, interleukin-4 induced							41	46	44					12																	57499054		2203	4300	6503	SO:0001583	missense	6778				regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	calcium ion binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr12:57499054C>T	BC005823, BQ028928	CCDS8931.1, CCDS53804.1	12q13	2013-02-14				ENSG00000166888		"SH2 domain containing"	11368	protein-coding gene	gene with protein product		601512				9605853, 8085155	Standard	NM_003153		Approved	D12S1644, IL-4-STAT	uc001sna.3	P42226		ENST00000300134.3:c.881G>A	12.37:g.57499054C>T	ENSP00000300134:p.Arg294Gln					STAT6_ENST00000543873.2_Missense_Mutation_p.R294Q|STAT6_ENST00000454075.3_Missense_Mutation_p.R294Q|STAT6_ENST00000556155.1_Missense_Mutation_p.R294Q|STAT6_ENST00000538913.2_Missense_Mutation_p.R184Q|STAT6_ENST00000537215.2_Missense_Mutation_p.R184Q	p.R294Q	NM_001178078.1|NM_003153.4	NP_001171549.1|NP_003144.3	P42226	STAT6_HUMAN			9	1206	-			294					A8K316|B7ZA27|F5GXI9|Q5FBW5|Q71UP4	Missense_Mutation	SNP	ENST00000300134.3	37	c.881G>A	CCDS8931.1	.	.	.	.	.	.	.	.	.	.	C	26.1	4.702261	0.88924	.	.	ENSG00000166888	ENST00000300134;ENST00000535201;ENST00000538913;ENST00000543873;ENST00000556155;ENST00000537215;ENST00000454075;ENST00000542721;ENST00000542516	D;D;D;D;D;D	0.94046	-3.34;-3.34;-3.34;-3.34;-3.34;-3.34	4.37	4.37	0.52481	STAT transcription factor, DNA-binding, subdomain (1);STAT transcription factor, DNA-binding (1);p53-like transcription factor, DNA-binding (1);	0.150771	0.44688	D	0.000421	D	0.96112	0.8733	M	0.85630	2.765	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.76071	0.979;0.987	D	0.95832	0.8859	10	0.87932	D	0	-8.6411	8.1027	0.30868	0.0:0.8929:0.0:0.1071	.	294;294	A8K4S9;P42226	.;STAT6_HUMAN	Q	294;184;184;294;294;184;294;184;294	ENSP00000300134:R294Q;ENSP00000445409:R184Q;ENSP00000438451:R294Q;ENSP00000451742:R294Q;ENSP00000444530:R184Q;ENSP00000401486:R294Q	ENSP00000300134:R294Q	R	-	2	0	STAT6	55785321	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	4.748000	0.62148	2.261000	0.74972	0.561000	0.74099	CGA		0.622	STAT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412248.3	NM_003153		10	33	0	0	0	1	0	10	33					T	57499054	C	T	57499054	3	4	94	1	0	0	0	0	1	0	0	0	15269	884	31	2	1718	2	STAT6	12	57499054	Missense_Mutation	SNP	C	TCGA-EJ-7782-01A-11D-2114-08	683307	57499054	76352841	302	5121											
SLC16A7	9194	broad.mit.edu	37	chr12	60098741	60098741	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	attcagcaaatattccacacTacctacagtgaaatagcatg	16	10	5	10	0	1	1	1	1	0	0	2	1	2	1	2	0	4	2	2	0	6	6	rs376184979		TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr12:60098741T>C	ENST00000261187.4	+	2	323	c.159T>C	c.(157-159)acT>acC	p.T53T	SLC16A7_ENST00000552024.1_Silent_p.T53T|SLC16A7_ENST00000543448.1_5'UTR|SLC16A7_ENST00000549588.1_3'UTR|SLC16A7_ENST00000549465.1_Silent_p.T53T|SLC16A7_ENST00000547379.1_Silent_p.T53T|SLC16A7_ENST00000552432.1_Silent_p.T53T	NM_004731.4	NP_004722.2	O60669	MOT2_HUMAN	solute carrier family 16 (monocarboxylate transporter), member 7	53					lactate transmembrane transport (GO:0035873)|pyruvate transmembrane transport (GO:1901475)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	lactate transmembrane transporter activity (GO:0015129)|pyruvate secondary active transmembrane transporter activity (GO:0005477)|pyruvate transmembrane transporter activity (GO:0050833)|secondary active monocarboxylate transmembrane transporter activity (GO:0015355)|symporter activity (GO:0015293)			endometrium(1)|large_intestine(14)|liver(2)|lung(11)|ovary(1)|skin(1)	30				GBM - Glioblastoma multiforme(3;0.0303)	Gamma Hydroxybutyric Acid(DB01440)|Niflumic Acid(DB04552)|Probenecid(DB01032)|Pyruvic acid(DB00119)	TATTCCACACTACCTACAGTG	0.383																																						ENST00000261187.4																			0				endometrium(1)|large_intestine(14)|liver(2)|lung(11)|ovary(1)|skin(1)	30						c.(157-159)acT>acC		solute carrier family 16 (monocarboxylate transporter), member 7	Pyruvic acid(DB00119)						110	104	106					12																	60098741		2203	4300	6503	SO:0001819	synonymous_variant	9194					integral to plasma membrane|membrane fraction	pyruvate secondary active transmembrane transporter activity|secondary active monocarboxylate transmembrane transporter activity|symporter activity	g.chr12:60098741T>C	AF049608	CCDS8961.1	12q14.1	2013-07-18	2013-07-18		ENSG00000118596	ENSG00000118596		"Solute carriers"	10928	protein-coding gene	gene with protein product		603654	"solute carrier family 16 (monocarboxylic acid transporters), member 7"			9786900	Standard	NM_004731		Approved	MCT2	uc001sqt.4	O60669	OTTHUMG00000169923	ENST00000261187.4:c.159T>C	12.37:g.60098741T>C						SLC16A7_ENST00000552432.1_Silent_p.T53T|SLC16A7_ENST00000547379.1_Silent_p.T53T|SLC16A7_ENST00000543448.1_5'UTR|SLC16A7_ENST00000549588.1_3'UTR|SLC16A7_ENST00000552024.1_Silent_p.T53T|SLC16A7_ENST00000549465.1_Silent_p.T53T	p.T53T	NM_001270622.1|NM_001270623.1|NM_004731.3	NP_001257551.1|NP_001257552.1|NP_004722.2	O60669	MOT2_HUMAN		GBM - Glioblastoma multiforme(3;0.0303)	2	323	+			53					Q8NEM3|Q9UPB3	Silent	SNP	ENST00000261187.4	37	c.159T>C	CCDS8961.1																																																																																				0.383	SLC16A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406587.1	NM_004731		24	46	0	0	0	1	0	24	46					C	60098741	T	C	60098741	2	2	94	1	0	0	0	0	0	0	0	1	14413	1509	53	4		4	SLC16A7	12	60098741	Silent	SNP	T	TCGA-EJ-7782-01A-11D-2114-08	2599687	60098741	73753154	303	5122											
SRGAP1	57522	broad.mit.edu	37	chr12	64377821	64377821	+	Frame_Shift_Del	DEL	A	A	-																															gatctgcaagatttcttccgAaaaaaagctgaaattgagac																										TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr12:64377821delA	ENST00000355086.3	+	2	686	c.162delA	c.(160-162)cgafs	p.R54fs	SRGAP1_ENST00000543397.1_Frame_Shift_Del_p.R14fs|SRGAP1_ENST00000357825.3_Frame_Shift_Del_p.R54fs	NM_020762.2	NP_065813.1	Q7Z6B7	SRGP1_HUMAN	SLIT-ROBO Rho GTPase activating protein 1	54	F-BAR domain.|FCH. {ECO:0000255|PROSITE- ProRule:PRU00083}.				axon guidance (GO:0007411)|cell migration (GO:0016477)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	Rho GTPase activator activity (GO:0005100)			breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	65			GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225)	GBM - Glioblastoma multiforme(28;0.0608)		ATTTCTTCCGAAAAAAAGCTG	0.418																																						ENST00000355086.3																			0				breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	65						c.(160-162)cgfs		SLIT-ROBO Rho GTPase activating protein 1							113	116	115					12																	64377821		2203	4300	6503	SO:0001589	frameshift_variant	57522				axon guidance	cytosol		g.chr12:64377821delA	AB037725	CCDS8967.1	12q13.13	2011-07-04			ENSG00000196935	ENSG00000196935		"Rho GTPase activating proteins"	17382	protein-coding gene	gene with protein product		606523				11672528	Standard	NM_020762		Approved	KIAA1304, ARHGAP13	uc010ssp.1	Q7Z6B7	OTTHUMG00000168750	ENST00000355086.3:c.162delA	12.37:g.64377821delA	ENSP00000347198:p.Arg54fs					SRGAP1_ENST00000543397.1_Frame_Shift_Del_p.R14fs|SRGAP1_ENST00000357825.3_Frame_Shift_Del_p.R54fs	p.R54fs	NM_020762.2	NP_065813.1	Q7Z6B7	SRGP1_HUMAN	GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225)	GBM - Glioblastoma multiforme(28;0.0608)	2	686	+			54			FCH.		Q9H8A3|Q9P2P2	Frame_Shift_Del	DEL	ENST00000355086.3	37	c.162delA	CCDS8967.1																																																																																				0.418	SRGAP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000400896.1			18	65						18	65	---	---	---	---	-	64377821	A	-	64377821	7	5	94	1	0	1	0	1	0	0	0	0	15144	233	9	0	168	0	SRGAP1	12	64377821	Frame_Shift_Del	DEL	A	TCGA-EJ-7782-01A-11D-2114-08	4279080	64377821	69474074	304	5123											
ZFC3H1	196441	broad.mit.edu	37	chr12	72013161	72013161	+	Frame_Shift_Del	DEL	A	A	-																															aggatgcaataaatttccgcAaaaatggaagaagattatcg																										TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr12:72013161delA	ENST00000378743.3	-	27	5436	c.5078delT	c.(5077-5079)ttgfs	p.L1693fs		NM_144982.4	NP_659419.3	O60293	ZC3H1_HUMAN	zinc finger, C3H1-type containing	1693					RNA processing (GO:0006396)	extracellular space (GO:0005615)|intracellular (GO:0005622)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						AAATTTCCGCAAAAATGGAAG	0.348																																						ENST00000378743.3																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						c.(5077-5079)tgfs		zinc finger, C3H1-type containing							61	56	57					12																	72013161		1810	4070	5880	SO:0001589	frameshift_variant	196441				RNA processing	intracellular	metal ion binding	g.chr12:72013161delA	AB011118	CCDS41813.1	12q21.1	2013-01-25	2008-10-01	2008-10-01		ENSG00000133858		"Zinc finger, C3H1-type containing"	28328	protein-coding gene	gene with protein product			"proline/serine-rich coiled-coil 2", "coiled-coil domain containing 131"	PSRC2, CCDC131		9628581	Standard	NM_144982		Approved	MGC23401, KIAA0546	uc001swo.2	O60293	OTTHUMG00000169545	ENST00000378743.3:c.5078delT	12.37:g.72013161delA	ENSP00000368017:p.Leu1693fs						p.L1693fs	NM_144982.4	NP_659419.3	O60293	ZC3H1_HUMAN			27	5436	-			1693					Q6GMU1|Q6P2S9|Q6ZV36|Q96BE7	Frame_Shift_Del	DEL	ENST00000378743.3	37	c.5078delT	CCDS41813.1																																																																																				0.348	ZFC3H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404751.1	NM_144982		15	21						15	21	---	---	---	---	-	72013161	A	-	72013161	7	5	94	1	0	1	0	1	0	0	0	0	17630	131	5	0	927	0	ZFC3H1	12	72013161	Frame_Shift_Del	DEL	A	TCGA-EJ-7782-01A-11D-2114-08	7635340	72013161	61838734	305	5124											
HCFC2	29915	broad.mit.edu	37	chr12	104474531	104474531	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttttacttttagaaactatGtcatggtcaaaaccagaaac	15	14	5	7	0	2	2	2	0	0	2	2	2	2	2	1	1	4	0	1	1	7	6			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr12:104474531G>C	ENST00000229330.4	+	5	794	c.690G>C	c.(688-690)atG>atC	p.M230I		NM_013320.2	NP_037452.1	Q9Y5Z7	HCFC2_HUMAN	host cell factor C2	230					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	transcription coactivator activity (GO:0003713)			breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|lung(14)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	35						TAGAAACTATGTCATGGTCAA	0.323																																					Esophageal Squamous(184;1814 2036 4771 6974 15702)	ENST00000229330.4																			0				breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|lung(14)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	35						c.(688-690)atG>atC		host cell factor C2							80	80	80					12																	104474531		2202	4300	6502	SO:0001583	missense	29915				regulation of transcription from RNA polymerase II promoter|viral reproduction	cytoplasm|nucleus	transcription coactivator activity	g.chr12:104474531G>C	AF117210	CCDS9097.1	12q23.3	2011-03-30			ENSG00000111727	ENSG00000111727			24972	protein-coding gene	gene with protein product		607926				10196288	Standard	NM_013320		Approved	HCF-2	uc001tkj.4	Q9Y5Z7	OTTHUMG00000170175	ENST00000229330.4:c.690G>C	12.37:g.104474531G>C	ENSP00000229330:p.Met230Ile						p.M230I	NM_013320.2	NP_037452.1	Q9Y5Z7	HCFC2_HUMAN			5	794	+			230					B2R8Q5|C0H5X3	Missense_Mutation	SNP	ENST00000229330.4	37	c.690G>C	CCDS9097.1	.	.	.	.	.	.	.	.	.	.	G	23.6	4.434936	0.83885	.	.	ENSG00000111727	ENST00000229330	T	0.42513	0.97	5.75	4.85	0.62838	Kelch-type beta propeller (1);	0.000000	0.85682	D	0.000000	T	0.51856	0.1699	M	0.91972	3.26	0.52099	D	0.999947	B	0.29232	0.238	B	0.29267	0.1	T	0.54344	-0.8308	10	0.22706	T	0.39	-19.2496	15.175	0.72903	0.0685:0.0:0.9315:0.0	.	230	Q9Y5Z7	HCFC2_HUMAN	I	230	ENSP00000229330:M230I	ENSP00000229330:M230I	M	+	3	0	HCFC2	102998661	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.348000	0.79366	2.725000	0.93324	0.655000	0.94253	ATG		0.323	HCFC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407780.1	NM_013320		15	17	0	0	0	1	0	15	17					C	104474531	G	C	104474531	3	2	94	1	0	0	0	0	1	0	0	0	6993	1377	48	5	708	5	HCFC2	12	104474531	Missense_Mutation	SNP	G	TCGA-EJ-7782-01A-11D-2114-08	32461370	104474531	29377364	306	5125											
ALKBH2	121642	broad.mit.edu	37	chr12	109526137	109526137	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcatcattagtaagctcccGtgggccagcggcagcctgac	8	9	11	13	2	2	1	2	1	0	0	3	1	3	1	3	2	3	3	3	2	2	3	rs374317590		TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr12:109526137G>A	ENST00000429722.2	-	4	1023	c.660C>T	c.(658-660)caC>caT	p.H220H	ALKBH2_ENST00000343075.3_Silent_p.H220H|ALKBH2_ENST00000440112.2_Missense_Mutation_p.T154M	NM_001145374.1	NP_001138846.1	Q6NS38	ALKB2_HUMAN	alkB, alkylation repair homolog 2 (E. coli)	220	Fe2OG dioxygenase. {ECO:0000255|PROSITE- ProRule:PRU00805}.				DNA dealkylation involved in DNA repair (GO:0006307)|DNA demethylation (GO:0080111)|DNA repair (GO:0006281)|oxidative demethylation (GO:0070989)|oxidative DNA demethylation (GO:0035511)	nucleoplasm (GO:0005654)	cytosine C-5 DNA demethylase activity (GO:0051747)|DNA-N1-methyladenine dioxygenase activity (GO:0043734)|ferrous iron binding (GO:0008198)			endometrium(1)|kidney(3)|large_intestine(1)|lung(3)	8					Vitamin C(DB00126)	GTAAGCTCCCGTGGGCCAGCG	0.577								Direct reversal of damage																														ENST00000440112.2																			0				endometrium(1)|kidney(3)|large_intestine(1)|lung(3)	8						c.(460-462)aCg>aTg	Direct reversal of damage	alkB, alkylation repair homolog 2 (E. coli)	Vitamin C(DB00126)						102	104	103					12																	109526137		2203	4300	6503	SO:0001819	synonymous_variant	121642				DNA dealkylation involved in DNA repair|oxidative DNA demethylation	nucleoplasm	cytosine C-5 DNA demethylase activity|damaged DNA binding|DNA-N1-methyladenine dioxygenase activity|ferrous iron binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr12:109526137G>A	AY754389	CCDS31897.1, CCDS55883.1	12q24.11	2008-04-24			ENSG00000189046	ENSG00000189046		"Alkylation repair homologs"	32487	protein-coding gene	gene with protein product		610602					Standard	NM_001145374		Approved	MGC90512, ABH2	uc010sxj.1	Q6NS38	OTTHUMG00000169246	ENST00000429722.2:c.660C>T	12.37:g.109526137G>A						ALKBH2_ENST00000429722.2_Silent_p.H220H|ALKBH2_ENST00000343075.3_Silent_p.H220H	p.T154M	NM_001205179.1|NM_001205180.1	NP_001192108.1|NP_001192109.1	Q6NS38	ALKB2_HUMAN			2	463	-			0			Fe2OG dioxygenase.		A4PET2|Q5XLE3	Missense_Mutation	SNP	ENST00000429722.2	37	c.461C>T	CCDS31897.1	.	.	.	.	.	.	.	.	.	.	G	13.81	2.346941	0.41599	.	.	ENSG00000189046	ENST00000440112	.	.	.	5.62	-1.8	0.07907	.	.	.	.	.	T	0.39009	0.1062	.	.	.	0.80722	D	1	P	0.46621	0.881	B	0.34489	0.184	T	0.36212	-0.9757	7	0.87932	D	0	-29.9495	12.769	0.57410	0.5848:0.0:0.4152:0.0	.	154	A4PET2	.	M	154	.	ENSP00000399820:T154M	T	-	2	0	ALKBH2	108010520	0.808000	0.29022	0.635000	0.29338	0.209000	0.24338	-0.073000	0.11468	-0.743000	0.04784	-0.136000	0.14681	ACG		0.577	ALKBH2-007	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403063.2	NM_001001655		29	69	0	0	0	1	0	29	69					A	109526137	G	A	109526137	2	1	94	1	0	0	0	0	0	0	0	1	527	1136	40	1		1	ALKBH2	12	109526137	Silent	SNP	G	TCGA-EJ-7782-01A-11D-2114-08	5051606	109526137	24325758	307	5126											
MMAB	326625	broad.mit.edu	37	chr12	109998845	109998845	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctctctccagccctcttacCgtctctcggcccggcggcac	3	9	8	21	4	3	0	0	0	3	0	7	0	4	0	5	3	2	1	5	3	1	1			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr12:109998845C>T	ENST00000545712.2	-	7	977	c.584G>A	c.(583-585)cGt>cAt	p.R195H	MMAB_ENST00000540016.1_Splice_Site_p.R143H|MMAB_ENST00000266839.5_Splice_Site_p.R104H	NM_052845.3	NP_443077.1	Q96EY8	MMAB_HUMAN	methylmalonic aciduria (cobalamin deficiency) cblB type	195					cobalamin biosynthetic process (GO:0009236)|cobalamin metabolic process (GO:0009235)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	mitochondrial matrix (GO:0005759)	ATP binding (GO:0005524)|cob(I)yrinic acid a,c-diamide adenosyltransferase activity (GO:0008817)			cervix(1)|kidney(1)|large_intestine(2)|lung(1)|urinary_tract(1)	6					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	GCCCTCTTACCGTCTCTCGGC	0.657																																						ENST00000545712.2																			0				cervix(1)|kidney(1)|large_intestine(2)|lung(1)|urinary_tract(1)	6	GRCh37	CS061303	MMAB	S		c.e7+1		methylmalonic aciduria (cobalamin deficiency) cblB type	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)						30	33	32					12																	109998845		2203	4298	6501	SO:0001630	splice_region_variant	326625				cobalamin biosynthetic process	mitochondrion	ATP binding|cob(I)yrinic acid a,c-diamide adenosyltransferase activity	g.chr12:109998845C>T	AF550404	CCDS9131.1	12q24	2014-07-18	2005-07-11		ENSG00000139428	ENSG00000139428			19331	protein-coding gene	gene with protein product	"ATP:cob(I)alamin adenosyltransferase", "cilia and flagella associated protein 23"	607568	"methylmalonic aciduria (cobalamin deficiency) type B"			12471062, 12514191	Standard	NM_052845		Approved	cblB, CFAP23	uc001tou.3	Q96EY8	OTTHUMG00000169255	ENST00000545712.2:c.584+1G>A	12.37:g.109998845C>T						MMAB_ENST00000266839.5_Splice_Site_p.R104_splice|MMAB_ENST00000540016.1_Splice_Site_p.R143_splice	p.R195_splice	NM_052845.3	NP_443077.1	Q96EY8	MMAB_HUMAN			7	977	-			195					C5HU05|Q9BSH0	Splice_Site	SNP	ENST00000545712.2	37	c.584_splice	CCDS9131.1	.	.	.	.	.	.	.	.	.	.	C	18.07	3.542639	0.65198	.	.	ENSG00000139428	ENST00000545712;ENST00000266839	D;D	0.95482	-3.72;-3.72	4.91	4.91	0.64330	Adenosylcobalamin biosynthesis, ATP:cob(I)alamin adenosyltransferase, PduO-type, N-terminal (2);Adenosylcobalamin biosynthesis, ATP:cob(I)alamin adenosyltransferase-like (2);Adenosylcobalamin biosynthesis, ATP:cob(I)alamin adenosyltransferase, EutT/PduO type (1);	0.378699	0.30285	N	0.009979	D	0.94062	0.8097	M	0.70275	2.135	0.45676	D	0.998598	P;P;P	0.51057	0.654;0.941;0.941	B;B;B	0.40506	0.12;0.18;0.331	D	0.93849	0.7143	9	.	.	.	-8.0484	15.4029	0.74855	0.0:1.0:0.0:0.0	.	104;195;195	B4DHP4;B2R6J3;Q96EY8	.;.;MMAB_HUMAN	H	195;104	ENSP00000445920:R195H;ENSP00000266839:R104H	.	R	-	2	0	MMAB	108483228	1.000000	0.71417	1.000000	0.80357	0.849000	0.48306	5.586000	0.67503	2.545000	0.85829	0.650000	0.86243	CGT		0.657	MMAB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403128.2		Missense_Mutation	6	21	0	0	0	1	0	6	21					T	109998845	C	T	109998845	5	4	94	1	0	0	0	0	0	0	1	0	9640	666	23	2	180	2	MMAB	12	109998845	Splice_Site	SNP	C	TCGA-EJ-7782-01A-11D-2114-08	472708	109998845	23853050	308	5127											
PLBD2	196463	broad.mit.edu	37	chr12	113810526	113810526	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agtatgaagtcggctactgcGagaggctgaagagcttcctg	10	9	14	8	2	0	4	0	2	0	2	2	5	1	4	1	2	3	4	1	2	4	3			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr12:113810526G>A	ENST00000280800.3	+	3	488	c.457G>A	c.(457-459)Gag>Aag	p.E153K	PLBD2_ENST00000545182.2_Missense_Mutation_p.E153K	NM_173542.3	NP_775813.2	Q8NHP8	PLBL2_HUMAN	phospholipase B domain containing 2	153					lipid catabolic process (GO:0016042)	extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	hydrolase activity (GO:0016787)			breast(1)|endometrium(1)|large_intestine(3)|lung(7)|prostate(1)	13						CGGCTACTGCGAGAGGCTGAA	0.572																																						ENST00000280800.3																			0				breast(1)|endometrium(1)|large_intestine(3)|lung(7)|prostate(1)	13						c.(457-459)Gag>Aag		phospholipase B domain containing 2							133	133	133					12																	113810526		2203	4300	6503	SO:0001583	missense	196463				lipid catabolic process	lysosomal lumen	hydrolase activity	g.chr12:113810526G>A	BC030618	CCDS9168.1, CCDS53834.1	12q24.13	2013-10-11				ENSG00000151176			27283	protein-coding gene	gene with protein product	"PLB homolog 2 (Dictyostelium)", "mannose-6-phosphate protein associated protein p76"					17105447, 15193148, 19019078	Standard	NM_001159727		Approved	p76	uc001tve.2	Q8NHP8	OTTHUMG00000169567	ENST00000280800.3:c.457G>A	12.37:g.113810526G>A	ENSP00000280800:p.Glu153Lys					PLBD2_ENST00000545182.2_Missense_Mutation_p.E153K	p.E153K	NM_173542.3	NP_775813.2	Q8NHP8	PLBL2_HUMAN			3	488	+			153					F5H5E2	Missense_Mutation	SNP	ENST00000280800.3	37	c.457G>A	CCDS9168.1	.	.	.	.	.	.	.	.	.	.	G	9.689	1.151503	0.21371	.	.	ENSG00000151176	ENST00000545182;ENST00000280800	T;T	0.15718	2.4;2.4	5.01	5.01	0.66863	.	0.109676	0.64402	D	0.000010	T	0.16938	0.0407	L	0.43923	1.385	0.36074	D	0.842318	B;B	0.23806	0.091;0.085	B;B	0.22386	0.02;0.039	T	0.09143	-1.0688	10	0.39692	T	0.17	-40.2479	14.3594	0.66761	0.0:0.1938:0.8062:0.0	.	153;153	F5H5E2;Q8NHP8	.;PLBL2_HUMAN	K	153	ENSP00000443463:E153K;ENSP00000280800:E153K	ENSP00000280800:E153K	E	+	1	0	PLBD2	112294909	0.999000	0.42202	0.997000	0.53966	0.161000	0.22273	2.873000	0.48475	2.332000	0.79248	0.462000	0.41574	GAG		0.572	PLBD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404835.1	NM_173542		32	72	0	0	0	1	0	32	72					A	113810526	G	A	113810526	3	1	94	1	0	0	0	0	1	0	0	0	12026	1059	37	2	467	2	PLBD2	12	113810526	Missense_Mutation	SNP	G	TCGA-EJ-7782-01A-11D-2114-08	3811681	113810526	20041369	309	5128											
MSI1	4440	broad.mit.edu	37	chr12	120791157	120791157	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtataactccggctggcgtaGgttgtggcttggaaacctgg	7	11	15	8	2	0	0	0	0	0	0	1	1	1	1	2	6	2	5	2	6	4	5	rs543420695		TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr12:120791157G>T	ENST00000257552.2	-	10	766	c.678C>A	c.(676-678)acC>acA	p.T226T	MSI1_ENST00000546622.1_5'UTR	NM_002442.3	NP_002433.1	O43347	MSI1H_HUMAN	musashi RNA-binding protein 1	226					epithelial cell differentiation (GO:0030855)|nervous system development (GO:0007399)|response to hormone (GO:0009725)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|polysome (GO:0005844)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|poly(U) RNA binding (GO:0008266)|RNA binding (GO:0003723)			breast(4)|central_nervous_system(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(5)|skin(2)	19	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GGCTGGCGTAGGTTGTGGCTT	0.597																																						ENST00000257552.2																			0				breast(4)|central_nervous_system(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(5)|skin(2)	19						c.(676-678)acC>acA		musashi RNA-binding protein 1							114	110	111					12																	120791157		2203	4300	6503	SO:0001819	synonymous_variant	4440				nervous system development	cytoplasm|nucleus	nucleotide binding	g.chr12:120791157G>T	AB012851	CCDS9196.1	12q24	2013-07-16	2012-12-13					"RNA binding motif (RRM) containing"	7330	protein-coding gene	gene with protein product		603328	"Musashi (Drosophila) homolog 1", "musashi homolog 1 (Drosophila)"			9790759	Standard	NM_002442		Approved		uc001tye.2	O43347	OTTHUMG00000169344	ENST00000257552.2:c.678C>A	12.37:g.120791157G>T						MSI1_ENST00000546622.1_5'UTR	p.T226T	NM_002442.3	NP_002433.1	O43347	MSI1H_HUMAN			10	766	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		226					Q96PU0|Q96PU1|Q96PU2|Q96PU3	Silent	SNP	ENST00000257552.2	37	c.678C>A	CCDS9196.1	.	.	.	.	.	.	.	.	.	.	G	9.828	1.187539	0.21870	.	.	ENSG00000135097	ENST00000546985	.	.	.	4.91	3.0	0.34707	.	.	.	.	.	T	0.56217	0.1970	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.51332	-0.8719	4	.	.	.	.	7.6358	0.28266	0.0765:0.0:0.638:0.2855	.	.	.	.	H	158	.	.	P	-	2	0	MSI1	119275540	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	1.274000	0.33132	1.009000	0.39289	0.455000	0.32223	CCT		0.597	MSI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403629.1	NM_002442		17	51	1	0	4.75885e-15	1	5.12876e-15	17	51					T	120791157	G	T	120791157	2	4	94	1	0	0	0	0	0	0	0	1	9875	987	35	5		5	MSI1	12	120791157	Silent	SNP	G	TCGA-EJ-7782-01A-11D-2114-08	6980631	120791157	13060738	310	5129											
EIF2B1	1967	broad.mit.edu	37	chr12	124106408	124106408	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggggcagtgtagtcgacccaCggatgctcctctttgaggtc	6	10	14	11	2	1	1	0	1	1	0	4	3	2	2	2	4	1	3	2	4	1	2			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr12:124106408C>T	ENST00000424014.2	-	9	1021	c.813G>A	c.(811-813)ccG>ccA	p.P271P	EIF2B1_ENST00000539951.1_3'UTR	NM_001414.3	NP_001405.1	Q14232	EI2BA_HUMAN	eukaryotic translation initiation factor 2B, subunit 1 alpha, 26kDa	271					cellular protein metabolic process (GO:0044267)|cellular response to stimulus (GO:0051716)|gene expression (GO:0010467)|negative regulation of translational initiation in response to stress (GO:0032057)|oligodendrocyte development (GO:0014003)|positive regulation of GTPase activity (GO:0043547)|regulation of translational initiation (GO:0006446)|response to glucose (GO:0009749)|response to heat (GO:0009408)|response to peptide hormone (GO:0043434)|translation (GO:0006412)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|eukaryotic translation initiation factor 2B complex (GO:0005851)|membrane (GO:0016020)|plasma membrane (GO:0005886)	enzyme regulator activity (GO:0030234)|GDP binding (GO:0019003)|GTP binding (GO:0005525)|translation initiation factor activity (GO:0003743)			breast(1)|kidney(3)|large_intestine(2)|lung(3)|urinary_tract(1)	10	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.67e-05)|Epithelial(86;0.000353)|all cancers(50;0.00489)		AGTCGACCCACGGATGCTCCT	0.512																																						ENST00000424014.2																			0				breast(1)|kidney(3)|large_intestine(2)|lung(3)|urinary_tract(1)	10						c.(811-813)ccG>ccA		eukaryotic translation initiation factor 2B, subunit 1 alpha, 26kDa							163	101	122					12																	124106408		2203	4300	6503	SO:0001819	synonymous_variant	1967				cellular response to stimulus|oligodendrocyte development|regulation of translational initiation|response to glucose stimulus|response to heat|response to peptide hormone stimulus	cytosol|eukaryotic translation initiation factor 2B complex|membrane fraction|plasma membrane	protein binding|translation initiation factor activity	g.chr12:124106408C>T	X95648	CCDS31924.1	12q24.3	1998-10-16	2002-08-29		ENSG00000111361	ENSG00000111361			3257	protein-coding gene	gene with protein product		606686	"eukaryotic translation initiation factor 2B, subunit 1 (alpha, 26kD)"	EIF2B			Standard	NM_001414		Approved	EIF-2Balpha, EIF-2B, EIF2BA	uc001ufm.3	Q14232	OTTHUMG00000168696	ENST00000424014.2:c.813G>A	12.37:g.124106408C>T						EIF2B1_ENST00000539951.1_3'UTR	p.P271P	NM_001414.3	NP_001405.1	Q14232	EI2BA_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;6.67e-05)|Epithelial(86;0.000353)|all cancers(50;0.00489)	9	1021	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		271					A6NLY9|B4DGX0|Q3SXP4	Silent	SNP	ENST00000424014.2	37	c.813G>A	CCDS31924.1																																																																																				0.512	EIF2B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400628.1	NM_001414		4	22	0	0	0	1	0	4	22					T	124106408	C	T	124106408	2	4	94	1	0	0	0	0	0	0	0	1	5000	523	19	1		1	EIF2B1	12	124106408	Silent	SNP	C	TCGA-EJ-7782-01A-11D-2114-08	3315251	124106408	9745487	311	5130											
SFRS8	6433	broad.mit.edu	37	chr12	132212946	132212946	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cagacggtgcgcctgtgcagCcctcccaggtggagtacacg	7	6	14	14	3	0	1	0	0	0	1	1	2	1	2	3	3	4	2	3	3	1	1			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr12:132212946C>T	ENST00000261674.4	+	7	1195	c.1054C>T	c.(1054-1056)Ccc>Tcc	p.P352S	SFSWAP_ENST00000541286.1_Missense_Mutation_p.P352S	NM_004592.3	NP_004583.2	Q12872	SFSWA_HUMAN	splicing factor, suppressor of white-apricot family	352					mRNA processing (GO:0006397)|mRNA splice site selection (GO:0006376)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	RNA binding (GO:0003723)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(8)|ovary(1)|skin(2)	25						GCCTGTGCAGCCCTCCCAGGT	0.587																																						ENST00000261674.4																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(8)|ovary(1)|skin(2)	25						c.(1054-1056)Ccc>Tcc		splicing factor, suppressor of white-apricot homolog (Drosophila)							132	102	112					12																	132212946		2203	4300	6503	SO:0001583	missense	6433				mRNA splice site selection|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding|RNA binding	g.chr12:132212946C>T	U08377	CCDS9273.1, CCDS58290.1	12q24.33	2014-04-14	2014-04-14	2010-09-15	ENSG00000061936	ENSG00000061936			10790	protein-coding gene	gene with protein product		601945	"splicing factor, arginine/serine-rich 8 (suppressor-of-white-apricot, Drosophila homolog)", "splicing factor, arginine/serine-rich 8 (suppressor-of-white-apricot homolog, Drosophila)", "splicing factor, suppressor of white-apricot homolog (Drosophila)"	SFRS8		8940107	Standard	NM_004592		Approved	SWAP	uc010tbn.2	Q12872	OTTHUMG00000168319	ENST00000261674.4:c.1054C>T	12.37:g.132212946C>T	ENSP00000261674:p.Pro352Ser					SFSWAP_ENST00000541286.1_Missense_Mutation_p.P352S	p.P352S	NM_004592.3	NP_004583.2	Q12872	SFSWA_HUMAN			7	1195	+			352					B2RN45|B7ZM97|F5H6B8|Q6PJF7	Missense_Mutation	SNP	ENST00000261674.4	37	c.1054C>T	CCDS9273.1	.	.	.	.	.	.	.	.	.	.	C	13.38	2.221394	0.39300	.	.	ENSG00000061936	ENST00000261674;ENST00000544623;ENST00000535236;ENST00000541286	T;T;T	0.23147	2.92;1.92;2.95	5.61	2.29	0.28610	.	0.316148	0.37437	N	0.002097	T	0.14313	0.0346	L	0.36672	1.1	0.39575	D	0.969345	B;B;B	0.23058	0.079;0.047;0.002	B;B;B	0.17722	0.019;0.009;0.003	T	0.08722	-1.0708	10	0.16896	T	0.51	-21.5046	3.5968	0.08009	0.4568:0.3423:0.1164:0.0846	.	352;352;289	F5H6B8;Q12872;F5H525	.;SFSWA_HUMAN;.	S	352;289;145;352	ENSP00000261674:P352S;ENSP00000443045:P145S;ENSP00000437738:P352S	ENSP00000261674:P352S	P	+	1	0	SFSWAP	130778899	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	0.849000	0.27723	1.339000	0.45563	0.655000	0.94253	CCC		0.587	SFSWAP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399276.1	NM_004592		23	25	0	0	0	1	0	23	25					T	132212946	C	T	132212946	3	4	94	1	0	0	0	0	1	0	0	0	14183	739	26	3	1080	3	SFRS8	12	132212946	Missense_Mutation	SNP	C	TCGA-EJ-7782-01A-11D-2114-08	8106538	132212946	1638949	312	5131											
EP400	57634	broad.mit.edu	37	chr12	132502815	132502815	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ataaaatcactcgtcacgagGcagagttgctgtctaagaaa	15	9	9	8	2	3	2	2	0	1	2	4	3	3	2	0	1	1	3	0	1	4	3			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr12:132502815G>A	ENST00000333577.4	+	22	4388	c.4279G>A	c.(4279-4281)Gca>Aca	p.A1427T	EP400_ENST00000330386.6_Missense_Mutation_p.A1391T|EP400_ENST00000389562.2_Missense_Mutation_p.A1390T|EP400_ENST00000332482.4_Missense_Mutation_p.A1354T|EP400_ENST00000389561.2_Missense_Mutation_p.A1391T			Q96L91	EP400_HUMAN	E1A binding protein p400	1427					chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		TCGTCACGAGGCAGAGTTGCT	0.463																																						ENST00000333577.4																			0				NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161						c.(4279-4281)Gca>Aca		E1A binding protein p400							55	58	57					12																	132502815		2203	4300	6503	SO:0001583	missense	57634				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	g.chr12:132502815G>A	U80743	CCDS31929.1, CCDS31929.2	12q24.33	2008-02-01	2002-02-05	2002-02-08		ENSG00000183495			11958	protein-coding gene	gene with protein product		606265	"trinucleotide repeat containing 12"	TNRC12		9225980, 11509179	Standard	NM_015409		Approved	CAGH32, KIAA1498, P400, KIAA1818, DKFZP434I225	uc001ujn.3	Q96L91		ENST00000333577.4:c.4279G>A	12.37:g.132502815G>A	ENSP00000333602:p.Ala1427Thr					EP400_ENST00000332482.4_Missense_Mutation_p.A1354T|EP400_ENST00000389562.2_Missense_Mutation_p.A1390T|EP400_ENST00000389561.2_Missense_Mutation_p.A1391T|EP400_ENST00000330386.6_Missense_Mutation_p.A1391T	p.A1427T			Q96L91	EP400_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)	22	4388	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)	1427					O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	Missense_Mutation	SNP	ENST00000333577.4	37	c.4279G>A		.	.	.	.	.	.	.	.	.	.	G	14.33	2.503603	0.44558	.	.	ENSG00000183495	ENST00000333577;ENST00000389561;ENST00000389562;ENST00000332482;ENST00000330386;ENST00000541296;ENST00000542457	D;D;D;D;D	0.91894	-2.91;-2.91;-2.92;-2.93;-2.79	5.43	4.54	0.55810	.	0.104086	0.64402	D	0.000003	D	0.88829	0.6543	L	0.54323	1.7	0.34882	D	0.744651	B;B;B	0.31435	0.323;0.323;0.323	B;B;B	0.30495	0.116;0.116;0.116	D	0.90154	0.4223	10	0.54805	T	0.06	.	10.0757	0.42360	0.0713:0.0:0.7905:0.1382	.	1391;1391;1390	Q96L91-2;Q96L91-4;Q96L91-5	.;.;.	T	1427;1391;1390;1354;1391;1391;1391	ENSP00000333602:A1427T;ENSP00000374212:A1391T;ENSP00000374213:A1390T;ENSP00000331737:A1354T;ENSP00000330620:A1391T	ENSP00000330620:A1391T	A	+	1	0	EP400	131068768	1.000000	0.71417	0.987000	0.45799	0.984000	0.73092	2.717000	0.47227	1.280000	0.44463	0.655000	0.94253	GCA		0.463	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015409		6	42	0	0	0	1	0	6	42					A	132502815	G	A	132502815	3	1	94	1	0	0	0	0	1	0	0	0	5149	1203	42	3	4246	3	EP400	12	132502815	Missense_Mutation	SNP	G	TCGA-EJ-7782-01A-11D-2114-08	289869	132502815	1349080	313	5132											
MPHOSPH8	54737	broad.mit.edu	37	chr13	20235872	20235872	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gacactggtgatgcttgccgCcgccggagggcaggacgacc	7	5	16	13	4	0	1	0	1	0	0	0	5	0	3	4	4	2	2	4	4	0	1			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr13:20235872C>T	ENST00000361479.5	+	8	1894	c.1826C>T	c.(1825-1827)gCc>gTc	p.A609V	MPHOSPH8_ENST00000414242.2_Missense_Mutation_p.A609V	NM_017520.3	NP_059990.2	Q99549	MPP8_HUMAN	M-phase phosphoprotein 8	609					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of DNA methylation (GO:0044030)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear heterochromatin (GO:0005720)|nuclear nucleosome (GO:0000788)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	methylated histone binding (GO:0035064)			breast(2)|endometrium(1)|large_intestine(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		all_cancers(29;2.83e-16)|all_lung(29;1.16e-17)|all_epithelial(30;8.13e-16)|Lung NSC(5;6.91e-15)|Lung SC(185;0.0367)		all cancers(112;8.43e-05)|Epithelial(112;0.000426)|OV - Ovarian serous cystadenocarcinoma(117;0.00596)|Lung(94;0.015)|LUSC - Lung squamous cell carcinoma(192;0.0795)		ATGCTTGCCGCCGCCGGAGGG	0.502																																						ENST00000361479.5																			0				breast(2)|endometrium(1)|large_intestine(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						c.(1825-1827)gCc>gTc		M-phase phosphoprotein 8							128	135	133					13																	20235872		2203	4300	6503	SO:0001583	missense	54737				cell cycle	cytoplasm|nucleus		g.chr13:20235872C>T	AK056785, AJ293409	CCDS9287.1	13q12.11	2013-01-10			ENSG00000196199	ENSG00000196199		"Ankyrin repeat domain containing"	29810	protein-coding gene	gene with protein product		611626				8885239	Standard	NM_017520		Approved	mpp8, HSMPP8	uc001umh.3	Q99549	OTTHUMG00000016498	ENST00000361479.5:c.1826C>T	13.37:g.20235872C>T	ENSP00000355388:p.Ala609Val					MPHOSPH8_ENST00000414242.2_Missense_Mutation_p.A609V	p.A609V	NM_017520.3	NP_059990.2	Q99549	MPP8_HUMAN		all cancers(112;8.43e-05)|Epithelial(112;0.000426)|OV - Ovarian serous cystadenocarcinoma(117;0.00596)|Lung(94;0.015)|LUSC - Lung squamous cell carcinoma(192;0.0795)	8	1894	+		all_cancers(29;2.83e-16)|all_lung(29;1.16e-17)|all_epithelial(30;8.13e-16)|Lung NSC(5;6.91e-15)|Lung SC(185;0.0367)	609					B7Z6F9|Q5JPE5|Q5JTQ0|Q86TK3|Q96MK4|Q9BTP1	Missense_Mutation	SNP	ENST00000361479.5	37	c.1826C>T	CCDS9287.1	.	.	.	.	.	.	.	.	.	.	C	24.1	4.492489	0.84962	.	.	ENSG00000196199	ENST00000414242;ENST00000361479	T;T	0.70516	-0.49;-0.49	6.08	6.08	0.98989	Ankyrin repeat-containing domain (4);	0.105071	0.64402	D	0.000003	D	0.82774	0.5110	L	0.54965	1.715	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.82418	-0.0467	10	0.72032	D	0.01	.	20.2672	0.98462	0.0:1.0:0.0:0.0	.	609;609	Q99549;Q99549-2	MPP8_HUMAN;.	V	609	ENSP00000414663:A609V;ENSP00000355388:A609V	ENSP00000355388:A609V	A	+	2	0	MPHOSPH8	19133872	1.000000	0.71417	0.779000	0.31741	0.166000	0.22503	7.221000	0.78016	2.894000	0.99253	0.591000	0.81541	GCC		0.502	MPHOSPH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044028.2	NM_017520		18	120	0	0	0	1	0	18	120					T	20235872	C	T	20235872	3	4	94	1	0	0	0	0	1	0	0	0	9727	739	26	3	1856	3	MPHOSPH8	13	20235872	Missense_Mutation	SNP	C	TCGA-EJ-7782-01A-11D-2114-08		20235872	94934006	314	5133											
PABPC3	5042	broad.mit.edu	37	chr13	25672097	25672097	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttggagattgataattcagaActtctttatatgctcgagtc	11	16	8	6	1	2	3	1	1	1	2	4	5	2	3	0	1	2	1	0	1	4	8			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr13:25672097A>G	ENST00000281589.3	+	1	1798	c.1761A>G	c.(1759-1761)gaA>gaG	p.E587E		NM_030979.2	NP_112241.2	Q9H361	PABP3_HUMAN	poly(A) binding protein, cytoplasmic 3	587	PABC. {ECO:0000255|PROSITE- ProRule:PRU00641}.				mRNA metabolic process (GO:0016071)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|pancreas(1)|skin(3)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)		ATAATTCAGAACTTCTTTATA	0.448																																						ENST00000281589.3																			0				breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|pancreas(1)|skin(3)	47						c.(1759-1761)gaA>gaG		poly(A) binding protein, cytoplasmic 3							126	124	125					13																	25672097		2203	4300	6503	SO:0001819	synonymous_variant	5042				mRNA metabolic process	cytoplasm	nucleotide binding|poly(A) RNA binding	g.chr13:25672097A>G	AF132026	CCDS9311.1	13q12-q13	2013-02-12	2001-11-28		ENSG00000151846	ENSG00000151846		"RNA binding motif (RRM) containing"	8556	protein-coding gene	gene with protein product	"testis PABP"	604680	"poly(A)-binding protein, cytoplasmic 3"	PABPL3		8432538, 10543404	Standard	NM_030979		Approved	PABP3, tPABP	uc001upy.3	Q9H361	OTTHUMG00000016601	ENST00000281589.3:c.1761A>G	13.37:g.25672097A>G							p.E587E	NM_030979.2	NP_112241.2	Q9H361	PABP3_HUMAN		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)	1	1798	+		Lung SC(185;0.0225)|Breast(139;0.0602)	587			PABC.		Q8NHV0|Q9H086	Silent	SNP	ENST00000281589.3	37	c.1761A>G	CCDS9311.1																																																																																				0.448	PABPC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044220.2	NM_030979		6	109	0	0	0	1	0	6	109					G	25672097	A	G	25672097	2	3	94	1	0	0	0	0	0	0	0	1	11365	40	2	4		4	PABPC3	13	25672097	Silent	SNP	A	TCGA-EJ-7782-01A-11D-2114-08	5436225	25672097	89497781	315	5134											
MTIF3	219402	broad.mit.edu	37	chr13	28014243	28014243	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggtgttcctttgaaccagtcGcaggtctcgctcatccataa	8	12	9	12	2	2	1	1	1	1	0	6	1	4	1	3	2	1	3	3	2	2	3			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr13:28014243G>A	ENST00000381116.1	-	5	577	c.343C>T	c.(343-345)Cga>Tga	p.R115*	MTIF3_ENST00000405591.2_Nonsense_Mutation_p.R115*|MTIF3_ENST00000431572.2_Nonsense_Mutation_p.R115*|MTIF3_ENST00000381120.3_Nonsense_Mutation_p.R115*|MTIF3_ENST00000461838.1_5'UTR			Q9H2K0	IF3M_HUMAN	mitochondrial translational initiation factor 3	115					formation of translation initiation complex (GO:0001732)|regulation of translational initiation (GO:0006446)|ribosome disassembly (GO:0032790)	mitochondrion (GO:0005739)	ribosomal small subunit binding (GO:0043024)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	7		Lung SC(185;0.0161)	Colorectal(13;0.00042)|READ - Rectum adenocarcinoma(15;0.105)	all cancers(112;0.108)|OV - Ovarian serous cystadenocarcinoma(117;0.157)		TGAACCAGTCGCAGGTCTCGC	0.478																																						ENST00000381116.1																			0				endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	7						c.(343-345)Cga>Tga		mitochondrial translational initiation factor 3							148	127	134					13																	28014243		2203	4300	6503	SO:0001587	stop_gained	219402				regulation of translational initiation|ribosome disassembly	mitochondrion	ribosomal small subunit binding|translation initiation factor activity	g.chr13:28014243G>A	BC046166	CCDS9322.1	13q12.2	2007-05-03			ENSG00000122033	ENSG00000122033			29788	protein-coding gene	gene with protein product						12095986	Standard	NM_152912		Approved	IF-3mt, IF3(mt)	uc001uri.3	Q9H2K0	OTTHUMG00000016633	ENST00000381116.1:c.343C>T	13.37:g.28014243G>A	ENSP00000370508:p.Arg115*					MTIF3_ENST00000431572.2_Nonsense_Mutation_p.R115*|MTIF3_ENST00000461838.1_5'UTR|MTIF3_ENST00000381120.3_Nonsense_Mutation_p.R115*|MTIF3_ENST00000405591.2_Nonsense_Mutation_p.R115*	p.R115*			Q9H2K0	IF3M_HUMAN	Colorectal(13;0.00042)|READ - Rectum adenocarcinoma(15;0.105)	all cancers(112;0.108)|OV - Ovarian serous cystadenocarcinoma(117;0.157)	5	577	-		Lung SC(185;0.0161)	115					Q05BL8|Q5W0V0|Q86X68	Nonsense_Mutation	SNP	ENST00000381116.1	37	c.343C>T	CCDS9322.1	.	.	.	.	.	.	.	.	.	.	G	16.83	3.231196	0.58777	.	.	ENSG00000122033	ENST00000431572;ENST00000405591;ENST00000381116;ENST00000381120	.	.	.	5.82	-3.46	0.04767	.	0.221060	0.46758	D	0.000269	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.09338	T	0.73	-12.6473	19.808	0.96537	0.0:0.0:0.705:0.295	.	.	.	.	X	115	.	ENSP00000370508:R115X	R	-	1	2	MTIF3	26912243	0.998000	0.40836	0.014000	0.15608	0.005000	0.04900	1.629000	0.37071	-0.840000	0.04206	-0.274000	0.10170	CGA		0.478	MTIF3-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044300.1	NM_152912		6	76	0	0	0	1	0	6	76					A	28014243	G	A	28014243	4	1	94	1	0	0	0	0	0	1	0	0	9935	1095	38	1	505	1	MTIF3	13	28014243	Nonsense_Mutation	SNP	G	TCGA-EJ-7782-01A-11D-2114-08	2342146	28014243	87155635	316	5135											
STARD13	90627	broad.mit.edu	37	chr13	33684168	33684168	+	Frame_Shift_Del	DEL	G	G	-																															acgcggttcaggaccactgaGgggggtgcttccacctccac																								rs34251901	byFrequency	TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr13:33684168delG	ENST00000336934.5	-	12	3005	c.2889delC	c.(2887-2889)cccfs	p.P963fs	STARD13_ENST00000255486.4_Frame_Shift_Del_p.P955fs|STARD13_ENST00000399365.3_Frame_Shift_Del_p.P845fs	NM_001243476.1|NM_178006.3	NP_001230405.1|NP_821074.1	Q9Y3M8	STA13_HUMAN	StAR-related lipid transfer (START) domain containing 13	963	START. {ECO:0000255|PROSITE- ProRule:PRU00197}.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|lipid particle (GO:0005811)|membrane (GO:0016020)|mitochondrion (GO:0005739)	GTPase activator activity (GO:0005096)|lipid binding (GO:0008289)			breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	40	all_epithelial(80;0.155)	Lung SC(185;0.0367)		all cancers(112;1.31e-05)|Epithelial(112;0.000142)|BRCA - Breast invasive adenocarcinoma(63;0.00936)|OV - Ovarian serous cystadenocarcinoma(117;0.0533)|Lung(94;0.143)|GBM - Glioblastoma multiforme(144;0.143)		GGACCACTGAGGGGGGTGCTT	0.577											OREG0022359	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000336934.5																			0				breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	40						c.(2887-2889)ccfs		StAR-related lipid transfer (START) domain containing 13							92	83	86					13																	33684168		2203	4300	6503	SO:0001589	frameshift_variant	90627				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|lipid particle|mitochondrial membrane	GTPase activator activity|protein binding	g.chr13:33684168delG	AL049801	CCDS9348.1, CCDS9349.1, CCDS9350.1	13q13.1	2013-08-13	2007-08-16		ENSG00000133121	ENSG00000133121		"Rho GTPase activating proteins", "StAR-related lipid transfer (START) domain containing"	19164	protein-coding gene	gene with protein product		609866	"START domain containing 13", "long intergenic non-protein coding RNA 464"	LINC00464		8812419	Standard	NM_178006		Approved	GT650, DLC2, ARHGAP37	uc001uuw.3	Q9Y3M8	OTTHUMG00000016708	ENST00000336934.5:c.2889delC	13.37:g.33684168delG	ENSP00000338785:p.Pro963fs		OREG0022359	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	841	STARD13_ENST00000399365.3_Frame_Shift_Del_p.P845fs|STARD13_ENST00000255486.4_Frame_Shift_Del_p.P955fs	p.P963fs	NM_001243476.1|NM_178006.3	NP_001230405.1|NP_821074.1	Q9Y3M8	STA13_HUMAN		all cancers(112;1.31e-05)|Epithelial(112;0.000142)|BRCA - Breast invasive adenocarcinoma(63;0.00936)|OV - Ovarian serous cystadenocarcinoma(117;0.0533)|Lung(94;0.143)|GBM - Glioblastoma multiforme(144;0.143)	12	3005	-	all_epithelial(80;0.155)	Lung SC(185;0.0367)	963			START.		A2A309|A2A310|Q5HYH1|Q5TAE3|Q6UN61|Q86TP6|Q86WQ3|Q86XT1	Frame_Shift_Del	DEL	ENST00000336934.5	37	c.2889delC	CCDS9348.1																																																																																				0.577	STARD13-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276118.2	NM_001243466		14	27						14	27	---	---	---	---	-	33684168	G	-	33684168	7	5	94	1	0	1	0	1	0	0	0	0	15255	987	35	0	464	0	STARD13	13	33684168	Frame_Shift_Del	DEL	G	TCGA-EJ-7782-01A-11D-2114-08	5669925	33684168	81485710	317	5136											
NBEA	26960	broad.mit.edu	37	chr13	35770248	35770248	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	actgaaaatcctagtgaaacGttgaagcctgcaacatccat	15	9	7	10	1	0	3	0	3	0	0	2	3	2	3	3	0	4	2	3	0	6	2			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr13:35770248G>A	ENST00000400445.3	+	31	5709	c.5175G>A	c.(5173-5175)acG>acA	p.T1725T	NBEA_ENST00000310336.4_Silent_p.T1725T|NBEA_ENST00000540320.1_Silent_p.T1725T|NBEA_ENST00000379939.2_Silent_p.T1722T	NM_015678.4	NP_056493.3	Q8NFP9	NBEA_HUMAN	neurobeachin	1725					protein localization (GO:0008104)	cytosol (GO:0005829)|endomembrane system (GO:0012505)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)				NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		CTAGTGAAACGTTGAAGCCTG	0.413																																						ENST00000400445.3																			0				NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108						c.(5173-5175)acG>acA		neurobeachin							86	84	85					13																	35770248		1894	4146	6040	SO:0001819	synonymous_variant	26960					cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding	g.chr13:35770248G>A	AF467288	CCDS45026.1, CCDS55894.1	13q13	2014-09-17			ENSG00000172915	ENSG00000172915		"A-kinase anchor proteins", "WD repeat domain containing"	7648	protein-coding gene	gene with protein product		604889				10501977	Standard	NM_015678		Approved	KIAA1544, BCL8B, FLJ10197	uc021ric.1	Q8NFP9	OTTHUMG00000016724	ENST00000400445.3:c.5175G>A	13.37:g.35770248G>A						NBEA_ENST00000379939.2_Silent_p.T1722T|NBEA_ENST00000310336.4_Silent_p.T1725T|NBEA_ENST00000540320.1_Silent_p.T1725T	p.T1725T	NM_015678.4	NP_056493.3	Q8NFP9	NBEA_HUMAN		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)	31	5709	+		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)	1725					B7Z2H9|Q5T320|Q9HCM8|Q9NSU1|Q9NW98|Q9Y6J1	Silent	SNP	ENST00000400445.3	37	c.5175G>A	CCDS45026.1																																																																																				0.413	NBEA-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_015678		17	45	0	0	0	1	0	17	45					A	35770248	G	A	35770248	2	1	94	1	0	0	0	0	0	0	0	1	10187	1132	40	1		1	NBEA	13	35770248	Silent	SNP	G	TCGA-EJ-7782-01A-11D-2114-08	2086080	35770248	79399630	318	5137											
FREM2	341640	broad.mit.edu	37	chr13	39261856	39261856	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgggccgcctgagtcccaaGcgcttcccgtgcgactttgg	4	8	13	16	5	0	1	0	1	0	0	2	2	2	1	5	2	2	1	5	2	1	2			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr13:39261856G>A	ENST00000280481.7	+	1	591	c.375G>A	c.(373-375)aaG>aaA	p.K125K		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	125					cell communication (GO:0007154)|homophilic cell adhesion (GO:0007156)|inner ear development (GO:0048839)|morphogenesis of an epithelium (GO:0002009)	basement membrane (GO:0005604)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		TGAGTCCCAAGCGCTTCCCGT	0.697																																						ENST00000280481.7																			0				NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148						c.(373-375)aaG>aaA		FRAS1 related extracellular matrix protein 2							21	21	21					13																	39261856		2203	4296	6499	SO:0001819	synonymous_variant	341640				cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr13:39261856G>A	BX538150	CCDS31960.1	13q13.3	2004-12-15			ENSG00000150893	ENSG00000150893			25396	protein-coding gene	gene with protein product		608945				15345741	Standard	NM_207361		Approved	DKFZp686J0811	uc001uwv.3	Q5SZK8	OTTHUMG00000016759	ENST00000280481.7:c.375G>A	13.37:g.39261856G>A							p.K125K	NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)	1	591	+		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)	125					Q4QQG1|Q5H9N8|Q5T6Q1|Q6N057|Q6ZSB4|Q7Z305|Q7Z341	Silent	SNP	ENST00000280481.7	37	c.375G>A	CCDS31960.1																																																																																				0.697	FREM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044599.2	NM_207361		3	2	0	0	0	1	0	3	2					A	39261856	G	A	39261856	2	1	94	1	0	0	0	0	0	0	0	1	6045	962	34	3		3	FREM2	13	39261856	Silent	SNP	G	TCGA-EJ-7782-01A-11D-2114-08	3491608	39261856	75908022	319	5138											
GPC6	10082	broad.mit.edu	37	chr13	95034757	95034757	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaggacgagagcgtgacagcGggcacgtccaacgaggagga	13	2	17	9	5	0	2	0	1	0	1	1	7	1	5	1	4	3	1	1	4	2	0			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr13:95034757G>A	ENST00000377047.4	+	7	1857	c.1242G>A	c.(1240-1242)gcG>gcA	p.A414A		NM_005708.3	NP_005699.1	Q9Y625	GPC6_HUMAN	glypican 6	414					carbohydrate metabolic process (GO:0005975)|cell migration (GO:0016477)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	38	all_neural(89;0.0684)|Medulloblastoma(90;0.163)	all_cancers(2;5.48e-07)|all_epithelial(2;5.69e-08)|all_lung(2;2.19e-05)|Lung NSC(4;6.09e-05)|Breast(118;0.0395)|Renal(2;0.0568)|Hepatocellular(115;0.217)				GCGTGACAGCGGGCACGTCCA	0.532																																						ENST00000377047.4																			0				NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	38						c.(1240-1242)gcG>gcA		glypican 6							147	133	137					13																	95034757		2203	4300	6503	SO:0001819	synonymous_variant	10082					anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding	g.chr13:95034757G>A	AF111178	CCDS9469.1	13q32	2008-02-05			ENSG00000183098	ENSG00000183098		"Proteoglycans / Cell Surface : Glypicans"	4454	protein-coding gene	gene with protein product	"glypican proteoglycan 6"	604404				10329016	Standard	NM_005708		Approved		uc001vlt.3	Q9Y625	OTTHUMG00000017205	ENST00000377047.4:c.1242G>A	13.37:g.95034757G>A							p.A414A	NM_005708.3	NP_005699.1	Q9Y625	GPC6_HUMAN			7	1857	+	all_neural(89;0.0684)|Medulloblastoma(90;0.163)	all_cancers(2;5.48e-07)|all_epithelial(2;5.69e-08)|all_lung(2;2.19e-05)|Lung NSC(4;6.09e-05)|Breast(118;0.0395)|Renal(2;0.0568)|Hepatocellular(115;0.217)	414					A8K279|Q96SG5|Q96SG8|Q9H1P4	Silent	SNP	ENST00000377047.4	37	c.1242G>A	CCDS9469.1																																																																																				0.532	GPC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045460.4	NM_005708		18	16	0	0	0	1	0	18	16					A	95034757	G	A	95034757	2	1	94	1	0	0	0	0	0	0	0	1	6602	1103	39	2		2	GPC6	13	95034757	Silent	SNP	G	TCGA-EJ-7782-01A-11D-2114-08	55772901	95034757	20135121	320	5139											
F7	2155	broad.mit.edu	37	chr13	113773158	113773158	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcccacatgccacccactacCggggcacgtggtacctgacg	8	5	11	17	3	0	1	0	1	0	0	0	1	0	1	5	3	3	2	5	3	2	2			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr13:113773158C>T	ENST00000375581.3	+	9	1272	c.1237C>T	c.(1237-1239)Cgg>Tgg	p.R413W	F7_ENST00000541084.1_Missense_Mutation_p.R344W|F7_ENST00000346342.3_Missense_Mutation_p.R391W	NM_000131.4	NP_000122.1	P08709	FA7_HUMAN	coagulation factor VII (serum prothrombin conversion accelerator)	413	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.		R -> G (in FA7D). {ECO:0000269|PubMed:18976247}.|R -> Q (may be associated with decreased susceptibility to myocardial infarction; dbSNP:rs6046). {ECO:0000269|PubMed:10391209, ECO:0000269|PubMed:10984565, ECO:0000269|PubMed:16292673, ECO:0000269|PubMed:8043443, ECO:0000269|PubMed:8844208, ECO:0000269|Ref.6}.		blood coagulation (GO:0007596)|blood coagulation, extrinsic pathway (GO:0007598)|cellular protein metabolic process (GO:0044267)|circadian rhythm (GO:0007623)|organ regeneration (GO:0031100)|peptidyl-glutamic acid carboxylation (GO:0017187)|positive regulation of blood coagulation (GO:0030194)|positive regulation of cell migration (GO:0030335)|positive regulation of leukocyte chemotaxis (GO:0002690)|positive regulation of platelet-derived growth factor receptor signaling pathway (GO:0010641)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of protein kinase B signaling (GO:0051897)|post-translational protein modification (GO:0043687)|proteolysis (GO:0006508)|response to estrogen (GO:0043627)|response to growth hormone (GO:0060416)|response to vitamin K (GO:0032571)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	calcium ion binding (GO:0005509)|glycoprotein binding (GO:0001948)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			large_intestine(4)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	16	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0364)|all_epithelial(44;0.0393)|Lung NSC(25;0.128)|Breast(118;0.188)	all cancers(43;0.0737)|Epithelial(84;0.213)|BRCA - Breast invasive adenocarcinoma(86;0.218)		Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Menadione(DB00170)	CACCCACTACCGGGGCACGTG	0.627																																						ENST00000375581.3																			0				large_intestine(4)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	16	GRCh37	CM090316	F7	M		c.(1237-1239)Cgg>Tgg		coagulation factor VII (serum prothrombin conversion accelerator)	Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Menadione(DB00170)						27	28	28					13																	113773158		2201	4299	6500	SO:0001583	missense	2155				anti-apoptosis|blood coagulation, extrinsic pathway|peptidyl-glutamic acid carboxylation|positive regulation of leukocyte chemotaxis|positive regulation of platelet-derived growth factor receptor signaling pathway|positive regulation of positive chemotaxis|positive regulation of protein kinase B signaling cascade|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|Golgi lumen|plasma membrane	calcium ion binding|glycoprotein binding|serine-type endopeptidase activity	g.chr13:113773158C>T		CCDS9528.1, CCDS9529.1, CCDS73602.1	13q34	2014-02-03			ENSG00000057593	ENSG00000057593	3.4.21.21		3544	protein-coding gene	gene with protein product	"eptacog alfa", "FVII coagulation protein", "factor VII"	613878				3264725, 2511201	Standard	NM_000131		Approved		uc001vsv.4	P08709	OTTHUMG00000017373	ENST00000375581.3:c.1237C>T	13.37:g.113773158C>T	ENSP00000364731:p.Arg413Trp					F7_ENST00000541084.1_Missense_Mutation_p.R344W|F7_ENST00000346342.3_Missense_Mutation_p.R391W	p.R413W	NM_000131.4	NP_000122.1	P08709	FA7_HUMAN	all cancers(43;0.0737)|Epithelial(84;0.213)|BRCA - Breast invasive adenocarcinoma(86;0.218)		9	1272	+	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0364)|all_epithelial(44;0.0393)|Lung NSC(25;0.128)|Breast(118;0.188)	413		R -> G (in FA7D).|R -> Q (may be associated with decreased susceptibility to myocardial infarction; dbSNP:rs6046).	Peptidase S1.		B0YJC8|Q14339|Q5JVF1|Q5JVF2|Q9UD52|Q9UD53|Q9UD54	Missense_Mutation	SNP	ENST00000375581.3	37	c.1237C>T	CCDS9528.1	.	.	.	.	.	.	.	.	.	.	C	11.82	1.751666	0.31046	.	.	ENSG00000057593	ENST00000346342;ENST00000541084;ENST00000375581	D;D;D	0.82081	-1.57;-1.57;-1.57	4.11	2.14	0.27477	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.744753	0.11868	N	0.521729	D	0.87993	0.6318	M	0.72118	2.19	0.30246	N	0.794537	D;D;D	0.89917	0.999;1.0;1.0	P;P;P	0.60473	0.833;0.802;0.875	T	0.82676	-0.0339	10	0.72032	D	0.01	.	10.5384	0.45018	0.6056:0.3944:0.0:0.0	.	344;391;413	F5H8B0;P08709-2;P08709	.;.;FA7_HUMAN	W	391;344;413	ENSP00000329546:R391W;ENSP00000442051:R344W;ENSP00000364731:R413W	ENSP00000329546:R391W	R	+	1	2	F7	112821159	0.622000	0.27085	0.043000	0.18650	0.016000	0.09150	1.286000	0.33273	1.024000	0.39682	0.467000	0.42956	CGG		0.627	F7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045838.4	NM_000131		3	17	0	0	0	1	0	3	17					T	113773158	C	T	113773158	3	4	94	1	0	0	0	0	1	0	0	0	5349	643	23	2	1271	2	F7	13	113773158	Missense_Mutation	SNP	C	TCGA-EJ-7782-01A-11D-2114-08	18738401	113773158	1396720	321	5140											
PCID2	55795	broad.mit.edu	37	chr13	113849441	113849441	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atacatgacaggcagagcccTgcagggcaaaaaagtaaaca	18	4	10	9	0	0	2	0	1	0	1	0	2	0	2	1	2	4	4	1	2	6	2			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr13:113849441T>C	ENST00000337344.4	-	6	385		c.e6-2		PCID2_ENST00000375477.1_Splice_Site|PCID2_ENST00000375459.1_Splice_Site|PCID2_ENST00000375457.2_Splice_Site|PCID2_ENST00000375479.2_Splice_Site|PCID2_ENST00000246505.5_Splice_Site	NM_001127202.2	NP_001120674.1	Q5JVF3	PCID2_HUMAN	PCI domain containing 2						negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity (GO:2000117)|positive regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090267)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of mRNA stability (GO:0043488)|spleen development (GO:0048536)					breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)	20	Lung NSC(43;0.0161)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_lung(25;0.216)|all_epithelial(44;0.234)	all cancers(43;0.104)			GGCAGAGCCCTGCAGGGCAAA	0.453																																						ENST00000375457.2																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)	20						c.e6-2		PCI domain containing 2							90	89	89					13																	113849441		2203	4300	6503	SO:0001630	splice_region_variant	55795				negative regulation of apoptosis|negative regulation of cysteine-type endopeptidase activity|positive regulation of mitotic cell cycle spindle assembly checkpoint|positive regulation of transcription, DNA-dependent|regulation of mRNA stability|spleen development		protein binding	g.chr13:113849441T>C	AK002167	CCDS9532.2, CCDS58301.1, CCDS58302.1	13q34	2006-03-31			ENSG00000126226	ENSG00000126226			25653	protein-coding gene	gene with protein product		613713				12477932	Standard	NM_001127203		Approved	FLJ11305	uc031qnm.1	Q5JVF3	OTTHUMG00000017385	ENST00000337344.4:c.309-2A>G	13.37:g.113849441T>C						PCID2_ENST00000246505.5_Splice_Site|PCID2_ENST00000337344.4_Splice_Site|PCID2_ENST00000375459.1_Splice_Site|PCID2_ENST00000375477.1_Splice_Site|PCID2_ENST00000375479.2_Splice_Site|PCID2_ENST00000351317.3_Intron		NM_001258213.1	NP_001245142.1	Q5JVF3	PCID2_HUMAN	all cancers(43;0.104)		6	899	-	Lung NSC(43;0.0161)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_lung(25;0.216)|all_epithelial(44;0.234)						A6NK09|Q3ZCX1|Q5TC57|Q5TC58|Q9H7K1|Q9HBZ7|Q9NUK6|Q9NVY1|Q9NW44|Q9NWH3	Splice_Site	SNP	ENST00000337344.4	37		CCDS9532.2	.	.	.	.	.	.	.	.	.	.	T	19.11	3.763504	0.69763	.	.	ENSG00000126226	ENST00000337344;ENST00000375479;ENST00000375477;ENST00000246505;ENST00000375459;ENST00000375457;ENST00000246506	.	.	.	4.82	4.82	0.62117	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.3413	0.66627	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	PCID2	112897442	1.000000	0.71417	0.990000	0.47175	0.811000	0.45836	5.626000	0.67777	1.932000	0.55993	0.460000	0.39030	.		0.453	PCID2-002	KNOWN	alternative_3_UTR|non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045897.1	NM_018386	Intron	14	26	0	0	0	1	0	14	26					C	113849441	T	C	113849441	5	2	94	1	0	0	0	0	0	0	1	0	11579	1594	55	4	928	4	PCID2	13	113849441	Splice_Site	SNP	T	TCGA-EJ-7782-01A-11D-2114-08	76283	113849441	1320437	322	5141											
OR4E2	26686	broad.mit.edu	37	chr14	22133362	22133362	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggactcactgataaccgggtGctggaaatgctgtttttcat	9	13	11	8	1	2	1	2	1	0	0	2	3	2	3	1	3	3	3	1	3	2	3			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr14:22133362G>A	ENST00000408935.1	+	1	66	c.66G>A	c.(64-66)gtG>gtA	p.V22V		NM_001001912.1	NP_001001912.1	Q8NGC2	OR4E2_HUMAN	olfactory receptor, family 4, subfamily E, member 2	22						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	15	all_cancers(95;0.00113)	Acute lymphoblastic leukemia(2;0.0279)		GBM - Glioblastoma multiforme(265;0.0137)		ATAACCGGGTGCTGGAAATGC	0.418																																						ENST00000408935.1																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	15						c.(64-66)gtG>gtA		olfactory receptor, family 4, subfamily E, member 2							162	150	154					14																	22133362		1916	4135	6051	SO:0001819	synonymous_variant	26686				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:22133362G>A		CCDS41916.1	14q11.2	2013-09-23			ENSG00000221977	ENSG00000221977		"GPCR / Class A : Olfactory receptors"	8297	protein-coding gene	gene with protein product							Standard	NM_001001912		Approved		uc010tmd.2	Q8NGC2	OTTHUMG00000168979	ENST00000408935.1:c.66G>A	14.37:g.22133362G>A							p.V22V	NM_001001912.1	NP_001001912.1	Q8NGC2	OR4E2_HUMAN		GBM - Glioblastoma multiforme(265;0.0137)	1	66	+	all_cancers(95;0.00113)	Acute lymphoblastic leukemia(2;0.0279)	22					Q6IET6|Q96R62	Silent	SNP	ENST00000408935.1	37	c.66G>A	CCDS41916.1																																																																																				0.418	OR4E2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401874.1			37	69	0	0	0	1	0	37	69					A	22133362	G	A	22133362	2	1	94	1	0	0	0	0	0	0	0	1	11060	1306	46	3		3	OR4E2	14	22133362	Silent	SNP	G	TCGA-EJ-7782-01A-11D-2114-08		22133362	85216178	323	5142											
REC8	9985	broad.mit.edu	37	chr14	24642164	24642164	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acccccgcagcccggcctgcCgcggccccgcttctccctct	2	6	9	24	5	2	0	0	0	2	0	3	0	2	0	8	2	2	2	8	2	0	1			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr14:24642164C>T	ENST00000311457.3	+	4	781	c.182C>T	c.(181-183)cCg>cTg	p.P61L	REC8_ENST00000559919.1_Missense_Mutation_p.P61L			O95072	REC8_HUMAN	REC8 meiotic recombination protein	61					double-strand break repair via homologous recombination (GO:0000724)|fertilization (GO:0009566)|linear element assembly (GO:0030999)|male meiosis I (GO:0007141)|meiotic nuclear division (GO:0007126)|oocyte maturation (GO:0001556)|reciprocal meiotic recombination (GO:0007131)|seminiferous tubule development (GO:0072520)|sister chromatid cohesion (GO:0007062)|spermatid development (GO:0007286)|spermatogenesis (GO:0007283)	condensed nuclear chromosome kinetochore (GO:0000778)|lateral element (GO:0000800)|male germ cell nucleus (GO:0001673)|nuclear meiotic cohesin complex (GO:0034991)|nucleus (GO:0005634)				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	15				GBM - Glioblastoma multiforme(265;0.00839)		CCCGGCCTGCCGCGGCCCCGC	0.602																																					NSCLC(139;1764 2537 12868 49041)	ENST00000311457.3																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	15						c.(181-183)cCg>cTg		REC8 meiotic recombination protein							55	65	61					14																	24642164		1972	4129	6101	SO:0001583	missense	9985				mitotic metaphase/anaphase transition|mitotic prometaphase|reciprocal meiotic recombination|sister chromatid cohesion	nucleoplasm		g.chr14:24642164C>T	AF006264	CCDS41932.1	14q11.2-q12	2013-08-06	2013-08-06	2007-04-03		ENSG00000100918			16879	protein-coding gene	gene with protein product		608193	"REC8-like 1 (yeast)", "REC8 homolog (yeast)"	REC8L1		10207075, 15935783, 12759374	Standard	NM_005132		Approved	Rec8p, kleisin-alpha	uc001wms.3	O95072		ENST00000311457.3:c.182C>T	14.37:g.24642164C>T	ENSP00000308699:p.Pro61Leu					REC8_ENST00000559919.1_Missense_Mutation_p.P61L	p.P61L			O95072	REC8_HUMAN		GBM - Glioblastoma multiforme(265;0.00839)	4	781	+			61					A8K576|D3DS62|Q658V5|Q6IA92|Q8WUV8|Q9BTF2|Q9NVQ9	Missense_Mutation	SNP	ENST00000311457.3	37	c.182C>T	CCDS41932.1	.	.	.	.	.	.	.	.	.	.	C	26.1	4.704779	0.88924	.	.	ENSG00000100918	ENST00000311457;ENST00000447460	T	0.35973	1.28	5.39	3.56	0.40772	Rad21/Rec8-like protein, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.61527	0.2354	M	0.88775	2.98	0.58432	D	0.999996	D;D	0.89917	0.996;1.0	D;D	0.85130	0.987;0.997	T	0.63193	-0.6692	10	0.87932	D	0	-22.4585	7.8783	0.29608	0.1596:0.7572:0.0:0.0832	.	61;61	O95072-2;O95072	.;REC8_HUMAN	L	61	ENSP00000308699:P61L	ENSP00000308699:P61L	P	+	2	0	REC8	23712004	1.000000	0.71417	0.926000	0.36857	0.970000	0.65996	5.897000	0.69831	0.628000	0.30357	0.561000	0.74099	CCG		0.602	REC8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415889.3	NM_005132		28	48	0	0	0	1	0	28	48					T	24642164	C	T	24642164	3	4	94	1	0	0	0	0	1	0	0	0	13199	652	23	2	192	2	REC8	14	24642164	Missense_Mutation	SNP	C	TCGA-EJ-7782-01A-11D-2114-08	2508802	24642164	82707376	324	5143											
FOXG1	2290	broad.mit.edu	37	chr14	29237390	29237390	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggcctcaccttcatggaccGcgccggctccctctactggc	4	8	10	19	4	3	0	2	0	1	0	4	1	4	1	5	4	1	1	5	4	1	2			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr14:29237390G>A	ENST00000313071.4	+	1	1104	c.905G>A	c.(904-906)cGc>cAc	p.R302H	RP11-966I7.1_ENST00000549487.1_RNA|RP11-966I7.1_ENST00000546560.1_RNA|FOXG1_ENST00000382535.3_Missense_Mutation_p.R302H|RP11-966I7.1_ENST00000551395.1_RNA	NM_005249.4	NP_005240.3	P55316	FOXG1_HUMAN	forkhead box G1	302				RAGSLYWPMSPFLSLHHPR -> APAPSTGPCRPSCPCTTP (in Ref. 1; CAA52240 and 2; CAA55038). {ECO:0000305}.	aging (GO:0007568)|axon midline choice point recognition (GO:0016199)|brain development (GO:0007420)|dorsal/ventral pattern formation (GO:0009953)|inner ear morphogenesis (GO:0042472)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron fate determination (GO:0048664)|positive regulation of cell cycle (GO:0045787)|positive regulation of neuroblast proliferation (GO:0002052)|pyramidal neuron migration (GO:0021852)|regulation of mitotic cell cycle (GO:0007346)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(2)	43			LUAD - Lung adenocarcinoma(48;0.011)|Lung(238;0.0575)	GBM - Glioblastoma multiforme(265;0.00413)		TTCATGGACCGCGCCGGCTCC	0.701																																						ENST00000382535.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(2)	43						c.(904-906)cGc>cAc		forkhead box G1							45	55	52					14																	29237390		2203	4299	6502	SO:0001583	missense	2290				axon midline choice point recognition|central nervous system neuron development|dorsal/ventral pattern formation|embryo development ending in birth or egg hatching|hindbrain development|inner ear morphogenesis|negative regulation of neuron differentiation|negative regulation of transcription, DNA-dependent|nonmotile primary cilium assembly|nose development|positive regulation of cell cycle|positive regulation of neuroblast proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of mitotic cell cycle|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chr14:29237390G>A		CCDS9636.1	14q11-q13	2007-10-05	2007-05-16	2007-05-16	ENSG00000176165	ENSG00000176165		"Forkhead boxes"	3811	protein-coding gene	gene with protein product		164874	"forkhead box G1B", "forkhead box G1C", "forkhead box G1A"	FKHL2, FOXG1B, FKHL4, FKH2, FKHL1, FOXG1C, FKHL3, FOXG1A		7959731, 17260156	Standard	NM_005249		Approved	HFK2, QIN, BF1, HFK1, HFK3, HBF-3	uc001wqe.4	P55316	OTTHUMG00000140187	ENST00000313071.4:c.905G>A	14.37:g.29237390G>A	ENSP00000339004:p.Arg302His					FOXG1_ENST00000313071.4_Missense_Mutation_p.R302H	p.R302H			P55316	FOXG1_HUMAN	LUAD - Lung adenocarcinoma(48;0.011)|Lung(238;0.0575)	GBM - Glioblastoma multiforme(265;0.00413)	2	1274	+			302	RAGSLYWPMSPFLSLHHPR -> APAPSTGPCRPSCPCTTP (in Ref. 1; CAA52240 and 2; CAA55038).				A6NFY2|P55315|Q14488|Q86XT7	Missense_Mutation	SNP	ENST00000313071.4	37	c.905G>A	CCDS9636.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.123284	0.77436	.	.	ENSG00000176165	ENST00000382535;ENST00000313071	D;D	0.93604	-3.25;-3.25	4.19	4.19	0.49359	.	0.068043	0.56097	U	0.000027	D	0.91925	0.7443	L	0.27053	0.805	0.58432	D	0.999998	D	0.71674	0.998	P	0.53450	0.726	D	0.92575	0.6069	10	0.49607	T	0.09	.	16.0962	0.81127	0.0:0.0:1.0:0.0	.	302	P55316	FOXG1_HUMAN	H	302	ENSP00000371975:R302H;ENSP00000339004:R302H	ENSP00000339004:R302H	R	+	2	0	FOXG1	28307141	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.851000	0.86920	1.868000	0.54150	0.313000	0.20887	CGC		0.701	FOXG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276559.3			23	55	0	0	0	1	0	23	55					A	29237390	G	A	29237390	3	1	94	1	0	0	0	0	1	0	0	0	6007	1087	38	1	907	1	FOXG1	14	29237390	Missense_Mutation	SNP	G	TCGA-EJ-7782-01A-11D-2114-08	4595226	29237390	78112150	325	5144											
BAZ1A	11177	broad.mit.edu	37	chr14	35255348	35255348	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ataccctggtgtaactgtggCcatgcagctgccaaagatgc	10	9	11	11	0	0	1	0	0	0	1	0	1	0	1	3	2	6	3	3	2	3	2			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr14:35255348C>T	ENST00000382422.2	-	12	1917	c.1590G>A	c.(1588-1590)tgG>tgA	p.W530*	BAZ1A_ENST00000358716.4_Intron|BAZ1A_ENST00000360310.1_Nonsense_Mutation_p.W530*			Q9NRL2	BAZ1A_HUMAN	bromodomain adjacent to zinc finger domain, 1A	530					chromatin remodeling (GO:0006338)|DNA-dependent DNA replication (GO:0006261)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	ACF complex (GO:0016590)|CHRAC (GO:0008623)|nuclear chromosome (GO:0000228)	zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(2)|large_intestine(7)|lung(19)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	48	Breast(36;0.0388)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(48;7.23e-05)|Lung(238;0.00019)|Epithelial(34;0.0793)|all cancers(34;0.175)	GBM - Glioblastoma multiforme(112;0.0659)		GTAACTGTGGCCATGCAGCTG	0.358																																						ENST00000360310.1																			0				breast(2)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(2)|large_intestine(7)|lung(19)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						c.(1588-1590)tgG>tgA		bromodomain adjacent to zinc finger domain, 1A							43	41	42					14																	35255348		2203	4300	6503	SO:0001587	stop_gained	11177				chromatin remodeling|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ACF complex	zinc ion binding	g.chr14:35255348C>T	AB032252	CCDS9651.1, CCDS41943.1	14q13.2	2013-01-28			ENSG00000198604	ENSG00000198604		"Zinc fingers, PHD-type"	960	protein-coding gene	gene with protein product		605680				10662543	Standard	NM_013448		Approved	hACF1, ACF1, WALp1, WCRF180	uc001wsk.3	Q9NRL2	OTTHUMG00000140216	ENST00000382422.2:c.1590G>A	14.37:g.35255348C>T	ENSP00000371859:p.Trp530*					BAZ1A_ENST00000382422.2_Nonsense_Mutation_p.W530*|BAZ1A_ENST00000358716.4_Intron	p.W530*	NM_013448.2	NP_038476.2	Q9NRL2	BAZ1A_HUMAN	LUAD - Lung adenocarcinoma(48;7.23e-05)|Lung(238;0.00019)|Epithelial(34;0.0793)|all cancers(34;0.175)	GBM - Glioblastoma multiforme(112;0.0659)	13	2157	-	Breast(36;0.0388)|Hepatocellular(127;0.158)		530					Q9NZ15|Q9P065|Q9UIG1|Q9Y3V3	Nonsense_Mutation	SNP	ENST00000382422.2	37	c.1590G>A	CCDS9651.1	.	.	.	.	.	.	.	.	.	.	C	44	11.044200	0.99507	.	.	ENSG00000198604	ENST00000382422;ENST00000360310	.	.	.	5.2	5.2	0.72013	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	18.7299	0.91731	0.0:1.0:0.0:0.0	.	.	.	.	X	530	.	ENSP00000353458:W530X	W	-	3	0	BAZ1A	34325099	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.349000	0.79376	2.405000	0.81733	0.555000	0.69702	TGG		0.358	BAZ1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276646.1			5	27	0	0	0	1	0	5	27					T	35255348	C	T	35255348	4	4	94	1	0	0	0	0	0	1	0	0	1329	740	26	3	3140	3	BAZ1A	14	35255348	Nonsense_Mutation	SNP	C	TCGA-EJ-7782-01A-11D-2114-08	6017958	35255348	72094192	326	5145											
FOXA1	3169	broad.mit.edu	37	chr14	38061250	38061250	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	catgttgccggagtccgggtGcagcgtccagtaggagccct	6	8	15	12	3	0	0	0	0	0	0	2	2	2	2	4	3	4	3	4	3	1	2			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr14:38061250G>A	ENST00000250448.2	-	2	800	c.739C>T	c.(739-741)Cac>Tac	p.H247Y	FOXA1_ENST00000545425.2_5'UTR|FOXA1_ENST00000540786.1_Missense_Mutation_p.H214Y	NM_004496.3	NP_004487.2	P55317	FOXA1_HUMAN	forkhead box A1	247					anatomical structure formation involved in morphogenesis (GO:0048646)|chromatin remodeling (GO:0006338)|dorsal/ventral neural tube patterning (GO:0021904)|epithelial cell maturation involved in prostate gland development (GO:0060743)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|epithelial-mesenchymal signaling involved in prostate gland development (GO:0060738)|glucose homeostasis (GO:0042593)|hormone metabolic process (GO:0042445)|lung epithelial cell differentiation (GO:0060487)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron fate specification (GO:0048665)|positive regulation of cell-cell adhesion mediated by cadherin (GO:2000049)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prostate gland epithelium morphogenesis (GO:0060740)|prostate gland stromal morphogenesis (GO:0060741)|response to estradiol (GO:0032355)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)	microvillus (GO:0005902)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|endometrium(1)|large_intestine(2)|lung(3)|prostate(12)	19	Breast(36;0.0954)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		Lung(238;5.41e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0454)|LUSC - Lung squamous cell carcinoma(13;0.0917)|all cancers(34;0.0925)|BRCA - Breast invasive adenocarcinoma(188;0.239)	GBM - Glioblastoma multiforme(112;0.0222)		GAGTCCGGGTGCAGCGTCCAG	0.667																																						ENST00000250448.2																			0				breast(1)|endometrium(1)|large_intestine(2)|lung(3)|prostate(12)	19						c.(739-741)Cac>Tac		forkhead box A1							33	31	32					14																	38061250		2203	4300	6503	SO:0001583	missense	3169				chromatin remodeling|embryo development|epithelial cell maturation involved in prostate gland development|epithelial tube branching involved in lung morphogenesis|epithelial-mesenchymal signaling involved in prostate gland development|glucose homeostasis|lung epithelial cell differentiation|negative regulation of survival gene product expression|neuron fate specification|pattern specification process|positive regulation of estrogen receptor signaling pathway|positive regulation of mitotic cell cycle|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|prostate gland epithelium morphogenesis|prostate gland stromal morphogenesis|response to estradiol stimulus|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development	transcription factor complex	DNA bending activity|double-stranded DNA binding|protein domain specific binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding	g.chr14:38061250G>A	U39840	CCDS9665.1	14q12-q13	2008-04-10		2002-09-20	ENSG00000129514	ENSG00000129514		"Forkhead boxes"	5021	protein-coding gene	gene with protein product		602294	"hepatocyte nuclear factor 3, alpha"	HNF3A		9119385, 8652662	Standard	NM_004496		Approved		uc001wuf.4	P55317	OTTHUMG00000140253	ENST00000250448.2:c.739C>T	14.37:g.38061250G>A	ENSP00000250448:p.His247Tyr					FOXA1_ENST00000540786.1_Missense_Mutation_p.H214Y|FOXA1_ENST00000545425.2_5'UTR	p.H247Y	NM_004496.3	NP_004487.2	P55317	FOXA1_HUMAN	Lung(238;5.41e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0454)|LUSC - Lung squamous cell carcinoma(13;0.0917)|all cancers(34;0.0925)|BRCA - Breast invasive adenocarcinoma(188;0.239)	GBM - Glioblastoma multiforme(112;0.0222)	2	800	-	Breast(36;0.0954)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		247					B2R9H6|B7ZAP5|Q9H2A0	Missense_Mutation	SNP	ENST00000250448.2	37	c.739C>T	CCDS9665.1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.459017	0.84317	.	.	ENSG00000129514	ENST00000250448;ENST00000540786	D;D	0.95588	-3.75;-3.75	4.0	4.0	0.46444	Winged helix-turn-helix transcription repressor DNA-binding (1);Transcription factor, fork head (3);	0.000000	0.85682	D	0.000000	D	0.97848	0.9293	M	0.88640	2.97	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.98816	1.0745	10	0.87932	D	0	.	15.0053	0.71507	0.0:0.0:1.0:0.0	.	247	P55317	FOXA1_HUMAN	Y	247;214	ENSP00000250448:H247Y;ENSP00000440178:H214Y	ENSP00000250448:H247Y	H	-	1	0	FOXA1	37131001	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.683000	0.84093	2.057000	0.61298	0.400000	0.26472	CAC		0.667	FOXA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276735.1			12	19	0	0	0	1	0	12	19					A	38061250	G	A	38061250	3	1	94	1	0	0	0	0	1	0	0	0	5989	1319	46	3	683	3	FOXA1	14	38061250	Missense_Mutation	SNP	G	TCGA-EJ-7782-01A-11D-2114-08	2805902	38061250	69288290	327	5146											
MDGA2	161357	broad.mit.edu	37	chr14	47504410	47504410	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctagaccaaaggatgattggTttaggtttgccagttacttg	10	14	11	6	0	0	2	0	1	0	1	0	3	0	3	2	3	2	3	2	3	4	7			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr14:47504410T>C	ENST00000399232.2	-	8	1780	c.1416A>G	c.(1414-1416)aaA>aaG	p.K472K	MDGA2_ENST00000439988.3_Silent_p.K541K|MDGA2_ENST00000357362.3_Silent_p.K243K|MDGA2_ENST00000426342.1_Silent_p.K243K	NM_001113498.2	NP_001106970.3	Q7Z553	MDGA2_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 2	472	Ig-like 5.				pattern specification process (GO:0007389)|spinal cord motor neuron differentiation (GO:0021522)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5)	76						GGATGATTGGTTTAGGTTTGC	0.418																																						ENST00000426342.1																			0				breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5)	76						c.(727-729)aaA>aaG		MAM domain containing glycosylphosphatidylinositol anchor 2							240	212	221					14																	47504410		1940	4156	6096	SO:0001819	synonymous_variant	161357				spinal cord motor neuron differentiation	anchored to membrane|plasma membrane		g.chr14:47504410T>C	AI859192	CCDS41948.1, CCDS45098.1, CCDS45098.2, CCDS45098.3	14q21.2	2013-01-29	2007-04-03	2007-04-03	ENSG00000139915	ENSG00000139915		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	19835	protein-coding gene	gene with protein product		611128	"MAM domain containing 1"	MAMDC1		15019943	Standard	NM_001113498		Approved		uc001wwj.4	Q7Z553	OTTHUMG00000029429	ENST00000399232.2:c.1416A>G	14.37:g.47504410T>C						MDGA2_ENST00000357362.3_Silent_p.K243K|MDGA2_ENST00000399232.2_Silent_p.K541K|MDGA2_ENST00000439988.2_Silent_p.K472K	p.K243K	NM_182830.3	NP_878250.2	Q7Z553	MDGA2_HUMAN			8	1475	-			472			Ig-like 3.		F6W3S7|J3KPX6	Silent	SNP	ENST00000399232.2	37	c.729A>G		.	.	.	.	.	.	.	.	.	.	T	6.835	0.523181	0.13066	.	.	ENSG00000139915	ENST00000554762	.	.	.	5.52	1.88	0.25563	.	.	.	.	.	T	0.57125	0.2032	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.47824	-0.9087	4	.	.	.	.	8.4139	0.32659	0.0:0.4046:0.0:0.5954	.	.	.	.	A	247	.	.	T	-	1	0	MDGA2	46574160	0.946000	0.32159	0.999000	0.59377	0.988000	0.76386	0.082000	0.14847	0.083000	0.17047	0.402000	0.26972	ACC		0.418	MDGA2-001	KNOWN	upstream_ATG|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000073352.5	NM_182830		6	121	0	0	0	1	0	6	121					C	47504410	T	C	47504410	2	2	94	1	0	0	0	0	0	0	0	1	9407	1722	60	4		4	MDGA2	14	47504410	Silent	SNP	T	TCGA-EJ-7782-01A-11D-2114-08	9443160	47504410	59845130	328	5147											
KLHDC1	122773	broad.mit.edu	37	chr14	50176534	50176534	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aggatatgatgacaaaggatAcagcaatcgagtaataattt	18	10	9	4	1	0	2	0	2	0	0	1	5	0	4	0	2	2	2	0	2	6	5			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr14:50176534A>G	ENST00000359332.2	+	3	365	c.275A>G	c.(274-276)tAc>tGc	p.Y92C	RP11-831F12.2_ENST00000557160.1_RNA	NM_172193.2	NP_751943.1	Q8N7A1	KLDC1_HUMAN	kelch domain containing 1	92						cytoplasm (GO:0005737)				kidney(1)|large_intestine(1)|liver(2)|lung(5)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	12	all_epithelial(31;0.00244)|Breast(41;0.00964)					GACAAAGGATACAGCAATCGA	0.358																																						ENST00000359332.2																			0				kidney(1)|large_intestine(1)|liver(2)|lung(5)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	12						c.(274-276)tAc>tGc		kelch domain containing 1							98	92	94					14																	50176534		2203	4300	6503	SO:0001583	missense	122773					cytoplasm		g.chr14:50176534A>G	AF111806	CCDS9692.1	14q21.3	2007-08-01			ENSG00000197776	ENSG00000197776			19836	protein-coding gene	gene with protein product		611281					Standard	NM_172193		Approved	MST025	uc001www.3	Q8N7A1	OTTHUMG00000140295	ENST00000359332.2:c.275A>G	14.37:g.50176534A>G	ENSP00000352282:p.Tyr92Cys						p.Y92C	NM_172193.2	NP_751943.1	Q8N7A1	KLDC1_HUMAN			3	365	+	all_epithelial(31;0.00244)|Breast(41;0.00964)		92					B3KXD9|Q8WYI1	Missense_Mutation	SNP	ENST00000359332.2	37	c.275A>G	CCDS9692.1	.	.	.	.	.	.	.	.	.	.	A	18.24	3.581104	0.65992	.	.	ENSG00000197776	ENST00000359332	D	0.92858	-3.12	5.16	5.16	0.70880	Galactose oxidase/kelch, beta-propeller (1);Kelch-type beta propeller (1);	0.246864	0.42682	D	0.000679	D	0.94964	0.8371	M	0.64567	1.98	0.53005	D	0.99996	D	0.89917	1.0	D	0.87578	0.998	D	0.94445	0.7662	10	0.40728	T	0.16	-10.4457	15.2901	0.73859	1.0:0.0:0.0:0.0	.	92	Q8N7A1	KLDC1_HUMAN	C	92	ENSP00000352282:Y92C	ENSP00000352282:Y92C	Y	+	2	0	KLHDC1	49246284	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.575000	0.82447	2.080000	0.62538	0.379000	0.24179	TAC		0.358	KLHDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276882.2	NM_172193		12	32	0	0	0	1	0	12	32					G	50176534	A	G	50176534	3	3	94	1	0	0	0	0	1	0	0	0	8354	391	14	4	285	4	KLHDC1	14	50176534	Missense_Mutation	SNP	A	TCGA-EJ-7782-01A-11D-2114-08	2672124	50176534	57173006	329	5148											
AHSA1	10598	broad.mit.edu	37	chr14	77935578	77935578	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aacagacctttggctatggcGcacgcttattttagggccag	9	11	11	10	2	0	1	0	0	0	1	0	1	0	1	2	3	1	3	2	3	4	5	rs141659647		TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr14:77935578G>A	ENST00000216479.3	+	9	1163	c.1003G>A	c.(1003-1005)Gca>Aca	p.A335T	AHSA1_ENST00000555457.1_3'UTR|SNORA46_ENST00000391069.1_RNA	NM_012111.2	NP_036243.1	O95433	AHSA1_HUMAN	AHA1, activator of heat shock 90kDa protein ATPase homolog 1 (yeast)	335					positive regulation of ATPase activity (GO:0032781)|response to stress (GO:0006950)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)	ATPase activator activity (GO:0001671)|chaperone binding (GO:0051087)			endometrium(1)|kidney(3)|large_intestine(1)|prostate(1)|skin(1)|stomach(1)	8			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0281)		TGGCTATGGCGCACGCTTATT	0.587																																						ENST00000216479.3																			0				endometrium(1)|kidney(3)|large_intestine(1)|prostate(1)|skin(1)|stomach(1)	8						c.(1003-1005)Gca>Aca		AHA1, activator of heat shock 90kDa protein ATPase homolog 1 (yeast)		G	THR/ALA	0,4406		0,0,2203	129	123	125		1003	6	1	14	dbSNP_134	125	2,8598	2.2+/-6.3	0,2,4298	no	missense	AHSA1	NM_012111.2	58	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	possibly-damaging	335/339	77935578	2,13004	2203	4300	6503	SO:0001583	missense	10598				protein folding|response to stress	cytosol|endoplasmic reticulum	ATPase activator activity|chaperone binding	g.chr14:77935578G>A	AJ243310	CCDS9863.1	14q	2008-02-05	2003-04-04	2003-04-11		ENSG00000100591			1189	protein-coding gene	gene with protein product		608466	"chromosome 14 open reading frame 3"	C14orf3			Standard	NM_012111		Approved	p38	uc001xtw.3	O95433		ENST00000216479.3:c.1003G>A	14.37:g.77935578G>A	ENSP00000216479:p.Ala335Thr					AHSA1_ENST00000555457.1_3'UTR	p.A335T	NM_012111.2	NP_036243.1	O95433	AHSA1_HUMAN	Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0281)	9	1163	+			335					B2R9L2|B4DUR9|Q96IL6|Q9P060	Missense_Mutation	SNP	ENST00000216479.3	37	c.1003G>A	CCDS9863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	27.6|27.6	4.848571|4.848571	0.91277|0.91277	0.0|0.0	2.33E-4|2.33E-4	ENSG00000100591|ENSG00000100591	ENST00000555133;ENST00000216479;ENST00000557476|ENST00000555729	T|.	0.44083|.	0.93|.	5.99|5.99	5.99|5.99	0.97316|0.97316	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.69369|0.69369	0.3103|0.3103	L|L	0.43554|0.43554	1.36|1.36	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.78314|.	0.991|.	T|T	0.62511|0.62511	-0.6839|-0.6839	10|5	0.22706|.	T|.	0.39|.	-15.5019|-15.5019	20.4574|20.4574	0.99148|0.99148	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	335|.	O95433|.	AHSA1_HUMAN|.	T|H	200;335;117|129	ENSP00000451474:A117T|.	ENSP00000216479:A335T|.	A|R	+|+	1|2	0|0	AHSA1|AHSA1	77005331|77005331	1.000000|1.000000	0.71417|0.71417	0.965000|0.965000	0.40720|0.40720	0.994000|0.994000	0.84299|0.84299	7.810000|7.810000	0.86072|0.86072	2.843000|2.843000	0.97960|0.97960	0.591000|0.591000	0.81541|0.81541	GCA|CGC		0.587	AHSA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414017.1	NM_012111		26	69	0	0	0	1	0	26	69					A	77935578	G	A	77935578	3	1	94	1	0	0	0	0	1	0	0	0	418	1087	38	1	1037	1	AHSA1	14	77935578	Missense_Mutation	SNP	G	TCGA-EJ-7782-01A-11D-2114-08	27759044	77935578	29413962	330	5149											
ALKBH1	8846	broad.mit.edu	37	chr14	78140481	78140481	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcgtggttcaagaggcggcTgaaacccgacattatcatga	11	9	12	9	3	2	3	2	2	0	1	2	4	2	3	1	3	2	2	1	3	3	2			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr14:78140481T>C	ENST00000216489.3	-	6	859	c.844A>G	c.(844-846)Agc>Ggc	p.S282G		NM_006020.2	NP_006011.2	Q13686	ALKB1_HUMAN	alkB, alkylation repair homolog 1 (E. coli)	282	Fe2OG dioxygenase. {ECO:0000255|PROSITE- ProRule:PRU00805}.				developmental growth (GO:0048589)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA dealkylation involved in DNA repair (GO:0006307)|DNA demethylation (GO:0080111)|DNA repair (GO:0006281)|in utero embryonic development (GO:0001701)|negative regulation of neuron apoptotic process (GO:0043524)|neuron migration (GO:0001764)|neuron projection development (GO:0031175)|oxidative demethylation (GO:0070989)|placenta development (GO:0001890)|RNA repair (GO:0042245)	mitochondrion (GO:0005739)|nuclear euchromatin (GO:0005719)	chemoattractant activity (GO:0042056)|DNA-(apurinic or apyrimidinic site) lyase activity (GO:0003906)|ferrous iron binding (GO:0008198)|methylcytosine dioxygenase activity (GO:0070579)			endometrium(2)|lung(4)|ovary(1)|prostate(1)|skin(1)	9			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0291)		AAGAGGCGGCTGAAACCCGAC	0.577																																						ENST00000216489.3																			0				endometrium(2)|lung(4)|ovary(1)|prostate(1)|skin(1)	9						c.(844-846)Agc>Ggc		alkB, alkylation repair homolog 1 (E. coli)							53	48	50					14																	78140481		2203	4300	6503	SO:0001583	missense	8846				DNA dealkylation involved in DNA repair|DNA demethylation|oxidative demethylation|RNA repair	mitochondrion	DNA-(apurinic or apyrimidinic site) lyase activity|ferrous iron binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr14:78140481T>C	X91992	CCDS32127.1	14q24	2014-07-23	2006-02-09	2006-02-09	ENSG00000100601	ENSG00000100601		"Alkylation repair homologs"	17911	protein-coding gene	gene with protein product		605345	"alkB, alkylation repair homolog (E. coli)"	ALKBH		8600462	Standard	XM_005268165		Approved	hABH, alkB, ABH	uc001xuc.1	Q13686	OTTHUMG00000171542	ENST00000216489.3:c.844A>G	14.37:g.78140481T>C	ENSP00000216489:p.Ser282Gly						p.S282G	NM_006020.2	NP_006011.2	Q13686	ALKB1_HUMAN	Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0291)	6	859	-			282			Fe2OG dioxygenase.		Q8TAU1|Q9ULA7	Missense_Mutation	SNP	ENST00000216489.3	37	c.844A>G	CCDS32127.1	.	.	.	.	.	.	.	.	.	.	T	32	5.124009	0.94429	.	.	ENSG00000100601	ENST00000216489	T	0.13307	2.6	5.95	5.95	0.96441	Oxoglutarate/iron-dependent oxygenase (1);	0.000000	0.85682	D	0.000000	T	0.39809	0.1092	M	0.74258	2.255	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.20042	-1.0287	10	0.72032	D	0.01	-15.8025	16.4237	0.83790	0.0:0.0:0.0:1.0	.	282	Q13686	ALKB1_HUMAN	G	282	ENSP00000216489:S282G	ENSP00000216489:S282G	S	-	1	0	ALKBH1	77210234	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.604000	0.82830	2.279000	0.76181	0.533000	0.62120	AGC		0.577	ALKBH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414037.1	NM_006020		11	22	0	0	0	1	0	11	22					C	78140481	T	C	78140481	3	2	94	1	0	0	0	0	1	0	0	0	526	1580	55	4	329	4	ALKBH1	14	78140481	Missense_Mutation	SNP	T	TCGA-EJ-7782-01A-11D-2114-08	204903	78140481	29209059	331	5150											
RIN3	79890	broad.mit.edu	37	chr14	93022190	93022190	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgaaaaactgccttcctcacCgccggggcatcagcatcctg	9	7	9	16	3	2	0	2	0	0	0	4	1	4	0	5	2	3	2	5	2	2	1	rs138055945		TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr14:93022190C>T	ENST00000216487.7	+	2	298	c.139C>T	c.(139-141)Cgc>Tgc	p.R47C		NM_024832.3	NP_079108.3	Q8TB24	RIN3_HUMAN	Ras and Rab interactor 3	47					endocytosis (GO:0006897)|positive regulation of Rab GTPase activity (GO:0032851)|signal transduction (GO:0007165)	cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)	GTPase activator activity (GO:0005096)|Rab GTPase binding (GO:0017137)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)			endometrium(4)|kidney(2)|large_intestine(7)|lung(19)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	36		all_cancers(154;0.0701)				CCTTCCTCACCGCCGGGGCAT	0.587																																						ENST00000216487.7																			0				endometrium(4)|kidney(2)|large_intestine(7)|lung(19)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	36						c.(139-141)Cgc>Tgc		Ras and Rab interactor 3		C	CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	64	60	61		139	4	0	14	dbSNP_134	61	0,8600		0,0,4300	no	missense	RIN3	NM_024832.3	180	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign	47/986	93022190	1,13005	2203	4300	6503	SO:0001583	missense	79890				endocytosis|signal transduction	cytoplasmic membrane-bounded vesicle|early endosome	GTPase activator activity|Ras GTPase binding	g.chr14:93022190C>T	BC025248	CCDS32144.1	14q32.13	2008-08-29				ENSG00000100599			18751	protein-coding gene	gene with protein product		610223				11733506	Standard	NM_024832		Approved	FLJ22439	uc001yap.3	Q8TB24		ENST00000216487.7:c.139C>T	14.37:g.93022190C>T	ENSP00000216487:p.Arg47Cys						p.R47C	NM_024832.3	NP_079108.3	Q8TB24	RIN3_HUMAN			2	298	+		all_cancers(154;0.0701)	47					Q76LB3|Q8NF30|Q8TEE8|Q8WYP4|Q9H6A5|Q9HAG1	Missense_Mutation	SNP	ENST00000216487.7	37	c.139C>T	CCDS32144.1	.	.	.	.	.	.	.	.	.	.	C	10.11	1.259225	0.23051	2.27E-4	0.0	ENSG00000100599	ENST00000216487;ENST00000428147	T	0.07688	3.17	4.9	3.99	0.46301	.	1.091330	0.07270	N	0.868946	T	0.07908	0.0198	N	0.19112	0.55	0.28290	N	0.923574	B	0.15473	0.013	B	0.04013	0.001	T	0.24728	-1.0152	10	0.72032	D	0.01	-1.4603	11.473	0.50280	0.0:0.9111:0.0:0.0889	.	47	Q8TB24	RIN3_HUMAN	C	47	ENSP00000216487:R47C	ENSP00000216487:R47C	R	+	1	0	RIN3	92091943	0.000000	0.05858	0.002000	0.10522	0.260000	0.26232	0.627000	0.24506	1.347000	0.45714	0.655000	0.94253	CGC		0.587	RIN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412269.1			15	25	0	0	0	1	0	15	25					T	93022190	C	T	93022190	3	4	94	1	0	0	0	0	1	0	0	0	13373	652	23	2	145	2	RIN3	14	93022190	Missense_Mutation	SNP	C	TCGA-EJ-7782-01A-11D-2114-08	14881709	93022190	14327350	332	5151											
SERPINA10	51156	broad.mit.edu	37	chr14	94756471	94756471	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaggcccagttccaggttgcGggagagggtctctctgagtc	6	9	16	10	1	2	2	0	1	2	1	5	4	3	2	2	4	1	2	2	4	0	2			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr14:94756471G>A	ENST00000393096.1	-	2	925	c.460C>T	c.(460-462)Cgc>Tgc	p.R154C	SERPINA10_ENST00000554173.1_Missense_Mutation_p.R154C|SERPINA10_ENST00000554723.1_Missense_Mutation_p.R194C|SERPINA10_ENST00000261994.4_Missense_Mutation_p.R154C	NM_016186.2	NP_057270.1	Q9UK55	ZPI_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 10	154					blood coagulation (GO:0007596)|negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	heparin binding (GO:0008201)|serine-type endopeptidase inhibitor activity (GO:0004867)			haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	33		all_cancers(154;0.105)		Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221)		TCCAGGTTGCGGGAGAGGGTC	0.517																																						ENST00000554723.1																			0				haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	33						c.(580-582)Cgc>Tgc		serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 10							55	62	60					14																	94756471		2203	4300	6503	SO:0001583	missense	51156				regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity	g.chr14:94756471G>A	AF181467	CCDS9923.1	14q32.13	2014-02-18	2005-08-18		ENSG00000140093	ENSG00000140093		"Serine (or cysteine) peptidase inhibitors"	15996	protein-coding gene	gene with protein product		605271	"serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 10"			10460162, 9689066, 24172014	Standard	NM_016186		Approved	PZI, ZPI	uc001yct.3	Q9UK55	OTTHUMG00000171345	ENST00000393096.1:c.460C>T	14.37:g.94756471G>A	ENSP00000376809:p.Arg154Cys					SERPINA10_ENST00000261994.4_Missense_Mutation_p.R154C|SERPINA10_ENST00000393096.1_Missense_Mutation_p.R154C|SERPINA10_ENST00000554173.1_Missense_Mutation_p.R154C	p.R194C			Q9UK55	ZPI_HUMAN		Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221)	2	998	-		all_cancers(154;0.105)	154					A5Z2A5|Q6UWX9|Q86U20	Missense_Mutation	SNP	ENST00000393096.1	37	c.580C>T	CCDS9923.1	.	.	.	.	.	.	.	.	.	.	G	8.354	0.831583	0.16820	.	.	ENSG00000140093	ENST00000554723;ENST00000393096;ENST00000261994;ENST00000554173	D;D;D;D	0.84730	-1.89;-1.89;-1.89;-1.89	4.97	-1.08	0.09936	Serpin domain (3);	2.161880	0.01822	N	0.034133	T	0.76263	0.3963	L	0.38175	1.15	0.09310	N	1	P	0.52170	0.951	B	0.38616	0.277	T	0.67526	-0.5648	10	0.72032	D	0.01	.	3.8622	0.09001	0.0828:0.182:0.1725:0.5628	.	154	Q9UK55	ZPI_HUMAN	C	194;154;154;154	ENSP00000450896:R194C;ENSP00000376809:R154C;ENSP00000261994:R154C;ENSP00000450971:R154C	ENSP00000261994:R154C	R	-	1	0	SERPINA10	93826224	0.026000	0.19158	0.001000	0.08648	0.006000	0.05464	0.030000	0.13688	-0.183000	0.10585	0.313000	0.20887	CGC		0.517	SERPINA10-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413061.1	NM_016186		15	54	0	0	0	1	0	15	54					A	94756471	G	A	94756471	3	1	94	1	0	0	0	0	1	0	0	0	14087	1116	39	2	890	2	SERPINA10	14	94756471	Missense_Mutation	SNP	G	TCGA-EJ-7782-01A-11D-2114-08	1734281	94756471	12593069	333	5152											
DICER1	23405	broad.mit.edu	37	chr14	95571440	95571440	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaagtgatctgactcccacGccagcatcgctggcagtctg	8	8	12	13	2	2	2	0	2	2	0	4	3	3	3	2	2	1	3	2	2	1	0			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr14:95571440G>A	ENST00000526495.1	-	22	3528	c.3237C>T	c.(3235-3237)ggC>ggT	p.G1079G	DICER1_ENST00000527414.1_Silent_p.G1079G|DICER1_ENST00000393063.1_Silent_p.G1079G|DICER1_ENST00000541352.1_Silent_p.G1079G|DICER1_ENST00000343455.3_Silent_p.G1079G|DICER1_ENST00000556045.1_Missense_Mutation_p.A3V			Q9UPY3	DICER_HUMAN	dicer 1, ribonuclease type III	1079					angiogenesis (GO:0001525)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac muscle cell development (GO:0055013)|cerebral cortex development (GO:0021987)|defense response to virus (GO:0051607)|embryonic hindlimb morphogenesis (GO:0035116)|gene expression (GO:0010467)|hair follicle cell proliferation (GO:0071335)|hair follicle morphogenesis (GO:0031069)|inner ear receptor cell development (GO:0060119)|intestinal epithelial cell development (GO:0060576)|lung development (GO:0030324)|mRNA stabilization (GO:0048255)|multicellular organism growth (GO:0035264)|negative regulation of Schwann cell proliferation (GO:0010626)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nerve development (GO:0021675)|neuron projection morphogenesis (GO:0048812)|olfactory bulb interneuron differentiation (GO:0021889)|peripheral nervous system myelin formation (GO:0032290)|positive regulation of gene expression (GO:0010628)|positive regulation of miRNA metabolic process (GO:2000630)|positive regulation of myelination (GO:0031643)|positive regulation of Schwann cell differentiation (GO:0014040)|post-embryonic development (GO:0009791)|pre-miRNA processing (GO:0031054)|production of miRNAs involved in gene silencing by miRNA (GO:0035196)|production of siRNA involved in RNA interference (GO:0030422)|regulation of cell cycle (GO:0051726)|regulation of enamel mineralization (GO:0070173)|regulation of neuron differentiation (GO:0045664)|regulation of oligodendrocyte differentiation (GO:0048713)|regulation of viral genome replication (GO:0045069)|reproductive structure development (GO:0048608)|RNA phosphodiester bond hydrolysis (GO:0090501)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|spinal cord motor neuron differentiation (GO:0021522)|spindle assembly (GO:0051225)|spleen development (GO:0048536)|stem cell maintenance (GO:0019827)|targeting of mRNA for destruction involved in RNA interference (GO:0030423)|zygote asymmetric cell division (GO:0010070)	axon (GO:0030424)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|growth cone (GO:0030426)|RISC complex (GO:0016442)	ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|miRNA binding (GO:0035198)|ribonuclease III activity (GO:0004525)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	75		all_cancers(154;0.0621)|all_epithelial(191;0.223)		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)		TGACTCCCACGCCAGCATCGC	0.488			"Mis F, N"		"sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma"	pleuropulmonary blastoma			Familial Multinodular Goiter ;DICER 1 syndrome																													ENST00000556045.1			yes	Rec	yes	Familial Pleuropulmonary Blastoma	14	14q32.13	23405	"Mis F, N"	"dicer 1, ribonuclease type III "			"E, M, O"		pleuropulmonary blastoma	"sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma"		0				NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	75						c.(7-9)gCg>gTg		dicer 1, ribonuclease type III							99	102	101					14																	95571440		2203	4300	6503	SO:0001819	synonymous_variant	23405	Familial Multinodular Goiter ;DICER 1 syndrome	Familial Cancer Database	Adolescent Multinodular Goiter, incl. Multinodular Euthyroid Goiter & Non-Medullary Thyroid Cancer;incl. Pleuropulmonary Blastoma, Familial ; Cystic Nephroma, Familial	negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|nerve development|neuron projection morphogenesis|peripheral nervous system myelin formation|positive regulation of myelination|positive regulation of Schwann cell differentiation|pre-miRNA processing|production of siRNA involved in RNA interference|targeting of mRNA for destruction involved in RNA interference	cytosol|RNA-induced silencing complex	ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity	g.chr14:95571440G>A	AB028449	CCDS9931.1, CCDS55941.1	14q32.13	2014-09-17	2008-02-20		ENSG00000100697	ENSG00000100697			17098	protein-coding gene	gene with protein product	"dicer 1, double-stranded RNA-specific endoribonuclease"	606241	"Dicer1, Dcr-1 homolog (Drosophila)", "multinodular goitre 1"	MNG1		10051563, 10786632, 21205968	Standard	NM_177438		Approved	Dicer, KIAA0928, K12H4.8-LIKE, HERNA	uc001ydw.2	Q9UPY3	OTTHUMG00000166134	ENST00000526495.1:c.3237C>T	14.37:g.95571440G>A						DICER1_ENST00000393063.1_Silent_p.G1079G|DICER1_ENST00000526495.1_Silent_p.G1079G|DICER1_ENST00000541352.1_Silent_p.G1079G|DICER1_ENST00000343455.3_Silent_p.G1079G|DICER1_ENST00000527414.1_Silent_p.G1079G	p.A3V			Q9UPY3	DICER_HUMAN		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)	3	290	-		all_cancers(154;0.0621)|all_epithelial(191;0.223)	0					A7E2D3|B3KRG4|E0AD28|O95943|Q9UQ02	Missense_Mutation	SNP	ENST00000526495.1	37	c.8C>T	CCDS9931.1	.	.	.	.	.	.	.	.	.	.	G	12.59	1.983094	0.34942	.	.	ENSG00000100697	ENST00000556045	D	0.86164	-2.08	5.65	-4.85	0.03142	.	.	.	.	.	T	0.72922	0.3521	.	.	.	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.49799	-0.8901	7	.	.	.	-24.8009	7.8221	0.29294	0.47:0.2679:0.2621:0.0	.	3	B3KRG4	.	V	3	ENSP00000451041:A3V	.	A	-	2	0	DICER1	94641193	0.001000	0.12720	0.982000	0.44146	0.946000	0.59487	-1.320000	0.02700	-0.491000	0.06697	-0.448000	0.05591	GCG		0.488	DICER1-004	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000387997.1			30	53	0	0	0	1	0	30	53					A	95571440	G	A	95571440	2	1	94	1	0	0	0	0	0	0	0	1	4521	1074	38	1		1	DICER1	14	95571440	Silent	SNP	G	TCGA-EJ-7782-01A-11D-2114-08	814969	95571440	11778100	334	5153											
AHNAK2	113146	broad.mit.edu	37	chr14	105409688	105409688	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggggccctctgggagtttcaCgtccacttggccagcctgga	5	9	14	13	1	2	0	1	0	1	0	3	2	3	2	4	5	1	1	4	5	0	2			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr14:105409688C>T	ENST00000333244.5	-	7	12219	c.12100G>A	c.(12100-12102)Gtg>Atg	p.V4034M	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	4034						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GGGAGTTTCACGTCCACTTGG	0.637																																						ENST00000333244.5																			0				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33						c.(12100-12102)Gtg>Atg		AHNAK nucleoprotein 2							100	106	104					14																	105409688		1918	4113	6031	SO:0001583	missense	113146					nucleus		g.chr14:105409688C>T	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"chromosome 14 open reading frame 78"	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.12100G>A	14.37:g.105409688C>T	ENSP00000353114:p.Val4034Met					AHNAK2_ENST00000557457.1_Intron	p.V4034M	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)		7	12219	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	4034					Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	ENST00000333244.5	37	c.12100G>A	CCDS45177.1	.	.	.	.	.	.	.	.	.	.	-	11.70	1.717587	0.30413	.	.	ENSG00000185567	ENST00000333244	T	0.01025	5.43	3.98	-7.97	0.01139	.	.	.	.	.	T	0.00845	0.0028	L	0.39147	1.195	0.09310	N	1	P	0.45212	0.853	B	0.43950	0.437	T	0.23511	-1.0186	9	0.42905	T	0.14	.	0.8752	0.01223	0.1804:0.2132:0.2229:0.3835	.	4034	Q8IVF2	AHNK2_HUMAN	M	4034	ENSP00000353114:V4034M	ENSP00000353114:V4034M	V	-	1	0	AHNAK2	104480733	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.947000	0.03901	-1.353000	0.02191	-3.724000	0.00023	GTG		0.637	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		12	184	0	0	0	1	0	12	184					T	105409688	C	T	105409688	3	4	94	1	0	0	0	0	1	0	0	0	415	536	19	1	5291	1	AHNAK2	14	105409688	Missense_Mutation	SNP	C	TCGA-EJ-7782-01A-11D-2114-08	9838248	105409688	1939852	335	5154											
GABRA5	2558	broad.mit.edu	37	chr15	27193181	27193181	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaacagaccccagcagggaCgtcgaatacaacctcagtct	13	5	10	13	2	2	1	1	0	1	1	3	4	2	3	3	2	4	1	3	2	4	1	rs565602814		TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr15:27193181C>T	ENST00000335625.5	+	11	2078	c.1190C>T	c.(1189-1191)aCg>aTg	p.T397M	GABRA5_ENST00000355395.5_Missense_Mutation_p.T397M|GABRA5_ENST00000400081.3_Missense_Mutation_p.T397M	NM_000810.3	NP_000801.1	P31644	GBRA5_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 5	397					associative learning (GO:0008306)|behavioral fear response (GO:0001662)|brain development (GO:0007420)|cochlea development (GO:0090102)|gamma-aminobutyric acid signaling pathway (GO:0007214)|inner ear receptor cell development (GO:0060119)|innervation (GO:0060384)|ion transmembrane transport (GO:0034220)|negative regulation of neuron apoptotic process (GO:0043524)|sensory perception of sound (GO:0007605)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|neuronal cell body membrane (GO:0032809)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)|receptor activity (GO:0004872)|transporter activity (GO:0005215)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(1)|upper_aerodigestive_tract(1)	49		all_lung(180;4.59e-13)|Breast(32;0.000563)|Colorectal(260;0.227)		all cancers(64;1.45e-08)|Epithelial(43;4.96e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0232)|Lung(196;0.182)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)|Zopiclone(DB01198)	CCAGCAGGGACGTCGAATACA	0.423																																						ENST00000335625.5																			0				NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(1)|upper_aerodigestive_tract(1)	49						c.(1189-1191)aCg>aTg		gamma-aminobutyric acid (GABA) A receptor, alpha 5	Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)						48	46	47					15																	27193181		1861	4099	5960	SO:0001583	missense	2558				gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity	g.chr15:27193181C>T		CCDS45194.1	15q12	2012-06-22			ENSG00000186297	ENSG00000186297		"GABA receptors", "Ligand-gated ion channels / GABA(A) receptors"	4079	protein-coding gene	gene with protein product	"GABA(A) receptor, alpha 5"	137142				1321750	Standard	NM_000810		Approved		uc021sgi.1	P31644	OTTHUMG00000171824	ENST00000335625.5:c.1190C>T	15.37:g.27193181C>T	ENSP00000335592:p.Thr397Met					GABRA5_ENST00000400081.3_Missense_Mutation_p.T397M|GABRA5_ENST00000355395.5_Missense_Mutation_p.T397M	p.T397M	NM_000810.3	NP_000801.1	P31644	GBRA5_HUMAN		all cancers(64;1.45e-08)|Epithelial(43;4.96e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0232)|Lung(196;0.182)	11	2078	+		all_lung(180;4.59e-13)|Breast(32;0.000563)|Colorectal(260;0.227)	397					A8K338|Q14DC2|Q53XL6|Q9NYT3|Q9NYT4|Q9NYT5	Missense_Mutation	SNP	ENST00000335625.5	37	c.1190C>T	CCDS45194.1	.	.	.	.	.	.	.	.	.	.	C	4.187	0.033339	0.08101	.	.	ENSG00000186297	ENST00000335625;ENST00000355395;ENST00000400081	D;D;D	0.85629	-2.01;-2.01;-2.01	4.39	2.44	0.29823	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.435592	0.25738	N	0.028639	T	0.70902	0.3277	N	0.08118	0	0.26656	N	0.972005	B	0.28082	0.2	B	0.34301	0.179	T	0.65030	-0.6267	10	0.52906	T	0.07	.	8.5135	0.33231	0.0:0.7246:0.0:0.2754	.	397	P31644	GBRA5_HUMAN	M	397	ENSP00000335592:T397M;ENSP00000347557:T397M;ENSP00000382953:T397M	ENSP00000335592:T397M	T	+	2	0	GABRA5	24775927	0.995000	0.38212	0.288000	0.24862	0.230000	0.25150	2.604000	0.46274	0.952000	0.37798	0.591000	0.81541	ACG		0.423	GABRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415234.1			4	13	0	0	0	1	0	4	13					T	27193181	C	T	27193181	3	4	94	1	0	0	0	0	1	0	0	0	6164	536	19	1	1224	1	GABRA5	15	27193181	Missense_Mutation	SNP	C	TCGA-EJ-7782-01A-11D-2114-08		27193181	75338211	336	5155											
C15orf56	644809	broad.mit.edu	37	chr15	40544701	40544701	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acacttggcaacttctcccgCgctctgggttcgccgccgcg	4	9	11	17	6	2	0	0	0	2	0	4	0	2	0	3	2	1	3	3	2	1	3			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr15:40544701C>T	ENST00000319503.3	-	2	292	c.271G>A	c.(271-273)Gcg>Acg	p.A91T	PAK6_ENST00000260404.4_Intron|RP11-133K1.2_ENST00000558658.1_Intron|PAK6_ENST00000542403.2_5'Flank|PAK6_ENST00000560346.1_Intron|PAK6_ENST00000453867.1_Intron|PAK6_ENST00000441369.1_Intron|C15orf56_ENST00000559727.1_3'UTR|PAK6_ENST00000455577.2_Intron	NM_001039905.1	NP_001034994.1	Q8N910	CO056_HUMAN	chromosome 15 open reading frame 56	91										lung(1)	1		all_cancers(109;1.62e-14)|all_epithelial(112;7.09e-12)|Lung NSC(122;3.4e-09)|all_lung(180;6.88e-08)|Melanoma(134;0.091)|Colorectal(260;0.198)|Ovarian(310;0.243)		GBM - Glioblastoma multiforme(113;2.28e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0503)		ACTTCTCCCGCGCTCTGGGTT	0.662																																						ENST00000319503.3																			0				lung(1)	1						c.(271-273)Gcg>Acg		chromosome 15 open reading frame 56							23	27	26					15																	40544701		2203	4300	6503	SO:0001583	missense	644809							g.chr15:40544701C>T		CCDS32197.1	15q15.1	2012-05-30			ENSG00000176753	ENSG00000176753			33868	protein-coding gene	gene with protein product							Standard	NM_001039905		Approved	FLJ38596	uc001zla.2	Q8N910	OTTHUMG00000172399	ENST00000319503.3:c.271G>A	15.37:g.40544701C>T	ENSP00000315794:p.Ala91Thr					PAK6_ENST00000455577.2_Intron|RP11-133K1.2_ENST00000558658.1_Intron|PAK6_ENST00000453867.1_Intron|PAK6_ENST00000560346.1_Intron|PAK6_ENST00000260404.4_Intron|PAK6_ENST00000441369.1_Intron|C15orf56_ENST00000559727.1_3'UTR	p.A91T	NM_001039905.1	NP_001034994.1	Q8N910	CO056_HUMAN		GBM - Glioblastoma multiforme(113;2.28e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0503)	2	292	-		all_cancers(109;1.62e-14)|all_epithelial(112;7.09e-12)|Lung NSC(122;3.4e-09)|all_lung(180;6.88e-08)|Melanoma(134;0.091)|Colorectal(260;0.198)|Ovarian(310;0.243)	91						Missense_Mutation	SNP	ENST00000319503.3	37	c.271G>A	CCDS32197.1	.	.	.	.	.	.	.	.	.	.	C	15.53	2.861720	0.51482	.	.	ENSG00000176753	ENST00000319503	T	0.29655	1.56	4.25	3.32	0.38043	.	.	.	.	.	T	0.14917	0.0360	N	0.08118	0	0.20563	N	0.999884	B	0.33904	0.431	B	0.23852	0.049	T	0.12142	-1.0559	9	0.87932	D	0	.	10.2241	0.43214	0.0:0.207:0.793:0.0	.	91	Q8N910	CO056_HUMAN	T	91	ENSP00000315794:A91T	ENSP00000315794:A91T	A	-	1	0	C15orf56	38331993	0.223000	0.23663	0.001000	0.08648	0.178000	0.23041	1.053000	0.30442	1.136000	0.42199	-0.256000	0.11100	GCG		0.662	C15orf56-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418370.2	NM_001039905		5	14	0	0	0	1	0	5	14					T	40544701	C	T	40544701	3	4	94	1	0	0	0	0	1	0	0	0	1804	768	27	1	218	1	C15orf56	15	40544701	Missense_Mutation	SNP	C	TCGA-EJ-7782-01A-11D-2114-08	13351520	40544701	61986691	337	5156											
EHD4	30844	broad.mit.edu	37	chr15	42193022	42193022	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttccagatcttgcccaggaCgctgttgggcagcttggagg	6	10	14	11	1	1	1	0	0	1	1	2	3	2	3	2	4	2	4	2	4	0	4	rs200735207		TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr15:42193022C>T	ENST00000220325.4	-	6	1530	c.1447G>A	c.(1447-1449)Gtc>Atc	p.V483I	RP11-23P13.6_ENST00000564432.2_RNA	NM_139265.3	NP_644670.1	Q9H223	EHD4_HUMAN	EH-domain containing 4	483	EF-hand. {ECO:0000255|PROSITE- ProRule:PRU00448}.|EH. {ECO:0000255|PROSITE- ProRule:PRU00077}.				cellular response to growth factor stimulus (GO:0071363)|endocytic recycling (GO:0032456)|pinocytosis (GO:0006907)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|protein homooligomerization (GO:0051260)|regulation of endocytosis (GO:0030100)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|recycling endosome membrane (GO:0055038)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|nucleic acid binding (GO:0003676)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(7)|ovary(2)|stomach(1)|urinary_tract(1)	20		all_cancers(109;2.54e-12)|all_epithelial(112;6.59e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091)		OV - Ovarian serous cystadenocarcinoma(18;1.6e-19)|GBM - Glioblastoma multiforme(94;3.77e-06)|COAD - Colon adenocarcinoma(120;0.0474)|Colorectal(105;0.0538)		TTGCCCAGGACGCTGTTGGGC	0.567																																						ENST00000220325.4																			0				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(7)|ovary(2)|stomach(1)|urinary_tract(1)	20						c.(1447-1449)Gtc>Atc		EH-domain containing 4							89	75	80					15																	42193022		2203	4299	6502	SO:0001583	missense	30844				endocytic recycling|protein homooligomerization	early endosome membrane|endoplasmic reticulum|nucleus|recycling endosome membrane	ATP binding|calcium ion binding|GTP binding|GTPase activity|nucleic acid binding|protein binding	g.chr15:42193022C>T	AF181265	CCDS10081.1	15q11.1	2013-01-10			ENSG00000103966	ENSG00000103966		"EF-hand domain containing"	3245	protein-coding gene	gene with protein product		605892		PAST4		10673336, 11533061	Standard	NM_139265		Approved		uc001zot.3	Q9H223	OTTHUMG00000130370	ENST00000220325.4:c.1447G>A	15.37:g.42193022C>T	ENSP00000220325:p.Val483Ile						p.V483I	NM_139265.3	NP_644670.1	Q9H223	EHD4_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;1.6e-19)|GBM - Glioblastoma multiforme(94;3.77e-06)|COAD - Colon adenocarcinoma(120;0.0474)|Colorectal(105;0.0538)	6	1530	-		all_cancers(109;2.54e-12)|all_epithelial(112;6.59e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091)	483			EF-hand.|EH.		Q9HAR1|Q9NZN2	Missense_Mutation	SNP	ENST00000220325.4	37	c.1447G>A	CCDS10081.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.202268	0.79127	.	.	ENSG00000103966	ENST00000220325	T	0.30182	1.54	4.83	4.83	0.62350	EPS15 homology (EH) (2);EF-hand-like domain (1);	0.061506	0.64402	D	0.000005	T	0.31136	0.0787	L	0.54965	1.715	0.80722	D	1	P	0.41393	0.748	B	0.35413	0.202	T	0.25187	-1.0139	10	0.54805	T	0.06	-44.3363	18.2861	0.90114	0.0:1.0:0.0:0.0	.	483	Q9H223	EHD4_HUMAN	I	483	ENSP00000220325:V483I	ENSP00000220325:V483I	V	-	1	0	EHD4	39980314	1.000000	0.71417	0.839000	0.33178	0.966000	0.64601	7.759000	0.85235	2.394000	0.81467	0.543000	0.68304	GTC		0.567	EHD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252737.2	NM_139265		4	41	0	0	0	1	0	4	41					T	42193022	C	T	42193022	3	4	94	1	0	0	0	0	1	0	0	0	4980	536	19	1	182	1	EHD4	15	42193022	Missense_Mutation	SNP	C	TCGA-EJ-7782-01A-11D-2114-08	1648321	42193022	60338370	338	5157											
GALK2	2585	broad.mit.edu	37	chr15	49574217	49574217	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aaatctgtgccaagagtgagCgttacattggcactgaagga	13	9	12	7	1	1	3	0	2	1	1	1	4	1	4	1	2	3	2	1	2	4	2	rs201505722	byFrequency	TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr15:49574217C>T	ENST00000560031.1	+	6	845	c.538C>T	c.(538-540)Cgt>Tgt	p.R180C	GALK2_ENST00000327171.3_Missense_Mutation_p.R169C|GALK2_ENST00000544523.1_Missense_Mutation_p.R156C|GALK2_ENST00000559454.1_Missense_Mutation_p.R156C|GALK2_ENST00000396509.2_Missense_Mutation_p.R156C|GALK2_ENST00000543495.1_Missense_Mutation_p.R51C|GALK2_ENST00000561014.1_3'UTR			Q01415	GALK2_HUMAN	galactokinase 2	180					carbohydrate metabolic process (GO:0005975)|galactose metabolic process (GO:0006012)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|galactokinase activity (GO:0004335)|N-acetylgalactosamine kinase activity (GO:0033858)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|liver(2)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19		all_lung(180;0.000325)		all cancers(107;3.71e-08)|GBM - Glioblastoma multiforme(94;7e-05)		CAAGAGTGAGCGTTACATTGG	0.413													C|||	4	0.000798722	0	0	5008	,	,		20633	0.004		0	False		,,,				2504	0					ENST00000327171.3																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|liver(2)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						c.(505-507)Cgt>Tgt		galactokinase 2							130	121	124					15																	49574217		2196	4295	6491	SO:0001583	missense	2585				galactose metabolic process	cytoplasm	ATP binding|galactokinase activity|N-acetylgalactosamine kinase activity	g.chr15:49574217C>T		CCDS32236.1, CCDS42034.1, CCDS73724.1	15q21.1-q21.2	2013-09-20			ENSG00000156958	ENSG00000156958	2.7.1.6		4119	protein-coding gene	gene with protein product		137028					Standard	XM_005254279		Approved	GK2	uc001zxj.1	Q01415	OTTHUMG00000172325	ENST00000560031.1:c.538C>T	15.37:g.49574217C>T	ENSP00000453129:p.Arg180Cys					GALK2_ENST00000559454.1_Missense_Mutation_p.R156C|GALK2_ENST00000561014.1_3'UTR|GALK2_ENST00000396509.2_Missense_Mutation_p.R156C|GALK2_ENST00000543495.1_Missense_Mutation_p.R51C|GALK2_ENST00000560031.1_Missense_Mutation_p.R180C|GALK2_ENST00000544523.1_Missense_Mutation_p.R156C	p.R169C	NM_001001556.1	NP_001001556.1	Q01415	GALK2_HUMAN		all cancers(107;3.71e-08)|GBM - Glioblastoma multiforme(94;7e-05)	6	737	+		all_lung(180;0.000325)	180					Q7Z4Q4	Missense_Mutation	SNP	ENST00000560031.1	37	c.505C>T	CCDS42034.1	2	9.157509157509158E-4	0	0.0	0	0.0	2	0.0034965034965034965	0	0.0	C	34	5.350054	0.95830	.	.	ENSG00000156958	ENST00000327171;ENST00000396509;ENST00000543495;ENST00000544523	D;D;D	0.85088	-1.94;-1.94;-1.94	5.79	5.79	0.91817	Ribosomal protein S5 domain 2-type fold (1);GHMP kinase (1);Ribosomal protein S5 domain 2-type fold, subgroup (1);	0.000000	0.85682	D	0.000000	D	0.95017	0.8387	H	0.94847	3.59	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.996;0.997	D	0.95691	0.8740	10	0.87932	D	0	0.2286	20.0222	0.97508	0.0:1.0:0.0:0.0	.	180;169	Q01415;Q7Z4Q4	GALK2_HUMAN;.	C	169;180;51;156	ENSP00000316632:R169C;ENSP00000443220:R51C;ENSP00000440312:R156C	ENSP00000316632:R169C	R	+	1	0	GALK2	47361509	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	5.644000	0.67902	2.726000	0.93360	0.655000	0.94253	CGT		0.413	GALK2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417854.1			18	45	0	0	0	1	0	18	45					T	49574217	C	T	49574217	3	4	94	1	0	0	0	0	1	0	0	0	6204	768	27	1	584	1	GALK2	15	49574217	Missense_Mutation	SNP	C	TCGA-EJ-7782-01A-11D-2114-08	7381195	49574217	52957175	339	5158											
MNS1	55329	broad.mit.edu	37	chr15	56735681	56735681	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttcctggtataattcttgtcGcacttgttccaaatcttcac	8	17	5	11	1	3	0	1	0	2	0	6	0	5	0	2	1	0	3	2	1	3	8			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr15:56735681G>A	ENST00000260453.3	-	7	1122	c.958C>T	c.(958-960)Cga>Tga	p.R320*	TEX9_ENST00000352903.2_Intron|TEX9_ENST00000537232.1_Intron	NM_018365.2	NP_060835.1	Q8NEH6	MNS1_HUMAN	meiosis-specific nuclear structural 1	320	Glu-rich.				cilium organization (GO:0044782)|left/right axis specification (GO:0070986)|meiotic nuclear division (GO:0007126)	axoneme (GO:0005930)|intermediate filament (GO:0005882)|nuclear envelope (GO:0005635)|sperm flagellum (GO:0036126)	identical protein binding (GO:0042802)			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(4)|ovary(2)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)	20				all cancers(107;0.0196)|GBM - Glioblastoma multiforme(80;0.101)		AATTCTTGTCGCACTTGTTCC	0.294																																						ENST00000260453.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(4)|ovary(2)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)	20						c.(958-960)Cga>Tga		meiosis-specific nuclear structural 1							132	124	127					15																	56735681		2192	4291	6483	SO:0001587	stop_gained	55329				meiosis			g.chr15:56735681G>A	AK002084	CCDS10158.1	15q21.3	2013-01-16			ENSG00000138587	ENSG00000138587			29636	protein-coding gene	gene with protein product	"spermatogenesis associated 40"	610766				7625268, 8032679	Standard	NM_018365		Approved	FLJ11222, SPATA40	uc002adr.2	Q8NEH6	OTTHUMG00000132034	ENST00000260453.3:c.958C>T	15.37:g.56735681G>A	ENSP00000260453:p.Arg320*					TEX9_ENST00000537232.1_Intron|TEX9_ENST00000352903.2_Intron	p.R320*	NM_018365.2	NP_060835.1	Q8NEH6	MNS1_HUMAN		all cancers(107;0.0196)|GBM - Glioblastoma multiforme(80;0.101)	7	1122	-			320			Glu-rich.		Q8IYT6|Q9NUP4	Nonsense_Mutation	SNP	ENST00000260453.3	37	c.958C>T	CCDS10158.1	.	.	.	.	.	.	.	.	.	.	G	37	6.299496	0.97453	.	.	ENSG00000138587	ENST00000260453	.	.	.	5.76	2.48	0.30137	.	0.175195	0.51477	D	0.000092	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-3.208	14.4127	0.67124	0.0:0.0:0.6097:0.3903	.	.	.	.	X	320	.	ENSP00000260453:R320X	R	-	1	2	MNS1	54522973	0.111000	0.22076	0.997000	0.53966	0.993000	0.82548	1.464000	0.35288	0.731000	0.32448	0.637000	0.83480	CGA		0.294	MNS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255047.2	NM_018365		7	27	0	0	0	1	0	7	27					A	56735681	G	A	56735681	4	1	94	1	0	0	0	0	0	1	0	0	9677	1095	38	1	545	1	MNS1	15	56735681	Nonsense_Mutation	SNP	G	TCGA-EJ-7782-01A-11D-2114-08	7161464	56735681	45795711	340	5159											
SLTM	79811	broad.mit.edu	37	chr15	59179240	59179240	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgctcccgtaccccgaagcGctgctacgattcccaggggg	6	7	12	16	4	0	0	0	0	0	0	2	2	2	0	4	2	5	4	4	2	3	3			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr15:59179240G>A	ENST00000380516.2	-	19	2856	c.2769C>T	c.(2767-2769)agC>agT	p.S923S	AC025918.2_ENST00000452467.1_RNA|SLTM_ENST00000536328.1_Silent_p.S492S	NM_001013843.1|NM_024755.2	NP_001013865.1|NP_079031.2	Q9NWH9	SLTM_HUMAN	SAFB-like, transcription modulator	923					apoptotic process (GO:0006915)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						ACCCCGAAGCGCTGCTACGAT	0.562																																						ENST00000380516.2																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						c.(2767-2769)agC>agT		SAFB-like, transcription modulator							93	79	84					15																	59179240		2192	4292	6484	SO:0001819	synonymous_variant	79811				apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleotide binding|RNA binding	g.chr15:59179240G>A	BC046119	CCDS10168.2	15q21.3	2013-02-12			ENSG00000137776	ENSG00000137776		"RNA binding motif (RRM) containing"	20709	protein-coding gene	gene with protein product							Standard	XR_243128		Approved	Met, FLJ13213	uc002afp.3	Q9NWH9	OTTHUMG00000074033	ENST00000380516.2:c.2769C>T	15.37:g.59179240G>A						SLTM_ENST00000536328.1_Silent_p.S492S	p.S923S	NM_001013843.1|NM_024755.2	NP_001013865.1|NP_079031.2	Q9NWH9	SLTM_HUMAN			19	2856	-			923					A8K5V8|B2RTX3|Q2VPK7|Q52MB3|Q658J7|Q6ZNF2|Q86TK6|Q9H7C3|Q9H8U9	Silent	SNP	ENST00000380516.2	37	c.2769C>T	CCDS10168.2																																																																																				0.562	SLTM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157124.1	NM_024755		4	34	0	0	0	1	0	4	34					A	59179240	G	A	59179240	2	1	94	1	0	0	0	0	0	0	0	1	14754	1078	38	1		1	SLTM	15	59179240	Silent	SNP	G	TCGA-EJ-7782-01A-11D-2114-08	2443559	59179240	43352152	341	5160											
FBXL22	283807	broad.mit.edu	37	chr15	63889730	63889730	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acgacgtgtttgaggaccccGcactctggtccctgctgcac	6	9	11	15	3	1	1	0	1	1	0	2	3	2	2	3	2	2	4	3	2	0	1	rs546862368		TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr15:63889730G>A	ENST00000360587.2	+	1	179	c.139G>A	c.(139-141)Gca>Aca	p.A47T	USP3-AS1_ENST00000558831.1_RNA|FBXL22_ENST00000534939.1_Missense_Mutation_p.A47T|USP3-AS1_ENST00000559861.1_RNA|USP3-AS1_ENST00000560962.1_RNA|USP3-AS1_ENST00000561256.1_RNA|USP3-AS1_ENST00000560622.1_RNA|FBXL22_ENST00000539570.3_Missense_Mutation_p.A41T|USP3-AS1_ENST00000561191.1_RNA|USP3-AS1_ENST00000559737.1_RNA	NM_203373.2	NP_976307.2	Q6P050	FXL22_HUMAN	F-box and leucine-rich repeat protein 22	47	F-box.				protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)				lung(4)	4						TGAGGACCCCGCACTCTGGTC	0.622													G|||	1	0.000199681	0	0.0014	5008	,	,		19501	0		0	False		,,,				2504	0					ENST00000360587.2																			0				lung(4)	4						c.(139-141)Gca>Aca		F-box and leucine-rich repeat protein 22							66	57	60					15																	63889730		2203	4300	6503	SO:0001583	missense	283807							g.chr15:63889730G>A	BC065833	CCDS10187.1, CCDS10187.2	15q22.1	2012-04-05			ENSG00000197361	ENSG00000197361		"F-boxes / Leucine-rich repeats"	27537	protein-coding gene	gene with protein product		609088				12477932	Standard	NM_203373		Approved	Fbl22, FLJ39626	uc002amn.4	Q6P050	OTTHUMG00000132905	ENST00000360587.2:c.139G>A	15.37:g.63889730G>A	ENSP00000353794:p.Ala47Thr					FBXL22_ENST00000539570.3_Missense_Mutation_p.A41T|FBXL22_ENST00000534939.1_Missense_Mutation_p.A47T|USP3-AS1_ENST00000561256.1_RNA|USP3-AS1_ENST00000561191.1_RNA|USP3-AS1_ENST00000559737.1_RNA|USP3-AS1_ENST00000560962.1_RNA|USP3-AS1_ENST00000560622.1_RNA|USP3-AS1_ENST00000558831.1_RNA	p.A47T	NM_203373.2	NP_976307.2	Q6P050	FXL22_HUMAN			1	179	+			41						Missense_Mutation	SNP	ENST00000360587.2	37	c.139G>A	CCDS10187.2	.	.	.	.	.	.	.	.	.	.	G	4.382	0.070510	0.08436	.	.	ENSG00000197361	ENST00000360587;ENST00000539570	T;T	0.34072	1.38;1.38	5.39	-3.62	0.04543	F-box domain, Skp2-like (1);	1.328010	0.04707	N	0.416865	T	0.12475	0.0303	N	0.02539	-0.55	0.09310	N	1	B	0.25169	0.119	B	0.15484	0.013	T	0.13442	-1.0509	10	0.34782	T	0.22	-10.1051	3.3137	0.07026	0.3695:0.0799:0.4133:0.1373	.	41	Q6P050	FXL22_HUMAN	T	47;41	ENSP00000353794:A47T;ENSP00000442112:A41T	ENSP00000353794:A47T	A	+	1	0	FBXL22	61676783	0.000000	0.05858	0.000000	0.03702	0.294000	0.27393	-0.411000	0.07142	-0.241000	0.09681	-1.008000	0.02478	GCA		0.622	FBXL22-001	KNOWN	downstream_ATG|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256412.4	NM_203373		6	19	0	0	0	1	0	6	19					A	63889730	G	A	63889730	3	1	94	1	0	0	0	0	1	0	0	0	5719	1087	38	1	123	1	FBXL22	15	63889730	Missense_Mutation	SNP	G	TCGA-EJ-7782-01A-11D-2114-08	4710490	63889730	38641662	342	5161											
IGDCC3	9543	broad.mit.edu	37	chr15	65622631	65622631	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	actccatccccagccctcacCtgtcctctcagatgctcccc	6	9	4	22	0	2	1	2	0	1	1	7	1	6	1	8	0	2	1	8	0	0	0			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr15:65622631C>A	ENST00000327987.4	-	11	2109	c.1858G>T	c.(1858-1860)Gcc>Tcc	p.A620S	IGDCC3_ENST00000559231.1_5'Flank	NM_004884.3	NP_004875.2	Q8IVU1	IGDC3_HUMAN	immunoglobulin superfamily, DCC subclass, member 3	620					neuromuscular process controlling balance (GO:0050885)	integral component of plasma membrane (GO:0005887)				breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(9)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						CAGCCCTCACCTGTCCTCTCA	0.567																																						ENST00000327987.4																			0				breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(9)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						c.e11+1		immunoglobulin superfamily, DCC subclass, member 3							156	127	137					15																	65622631		2201	4299	6500	SO:0001630	splice_region_variant	9543							g.chr15:65622631C>A	AF063936	CCDS10205.1	15q22.3-q23	2013-02-11	2009-01-08	2009-01-08	ENSG00000174498	ENSG00000174498		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	9700	protein-coding gene	gene with protein product		604184	"putative neuronal cell adhesion molecule"	PUNC		9922388	Standard	NM_004884		Approved	HsT18880	uc002aos.2	Q8IVU1	OTTHUMG00000133137	ENST00000327987.4:c.1858+1G>T	15.37:g.65622631C>A							p.A620_splice	NM_004884.3	NP_004875.2	Q8IVU1	IGDC3_HUMAN			11	2109	-			620					O95215	Splice_Site	SNP	ENST00000327987.4	37	c.1858_splice	CCDS10205.1	.	.	.	.	.	.	.	.	.	.	C	16.01	3.000125	0.54147	.	.	ENSG00000174498	ENST00000327987;ENST00000443278	T	0.65916	-0.18	5.26	4.31	0.51392	.	0.563532	0.17466	N	0.173257	T	0.47637	0.1456	L	0.27053	0.805	0.35470	D	0.797286	B	0.17465	0.022	B	0.10450	0.005	T	0.49844	-0.8896	9	.	.	.	-12.4775	12.4354	0.55596	0.0:0.9144:0.0:0.0856	.	620	Q8IVU1	IGDC3_HUMAN	S	620;483	ENSP00000332773:A620S	.	A	-	1	0	IGDCC3	63409684	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.590000	0.61013	1.132000	0.42129	0.655000	0.94253	GCC		0.567	IGDCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256826.1	NM_004884	Missense_Mutation	9	78	1	0	3.09899e-07	1	3.24445e-07	9	78					A	65622631	C	A	65622631	5	1	94	1	0	0	0	0	0	0	1	0	7568	695	24	5	602	5	IGDCC3	15	65622631	Splice_Site	SNP	C	TCGA-EJ-7782-01A-11D-2114-08	1732901	65622631	36908761	343	5162											
ARID3B	10620	broad.mit.edu	37	chr15	74883589	74883589	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atggcaaccgcagggagggcCggcggcccagctacagctcc	8	3	15	15	3	0	0	0	0	0	0	1	1	1	1	4	5	4	4	4	5	2	1			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr15:74883589C>T	ENST00000346246.5	+	6	1210	c.979C>T	c.(979-981)Cgg>Tgg	p.R327W		NM_006465.2	NP_006456.1	Q8IVW6	ARI3B_HUMAN	AT rich interactive domain 3B (BRIGHT-like)	327	Interaction with RB1.					nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)			NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(7)|prostate(2)	14						CAGGGAGGGCCGGCGGCCCAG	0.612																																						ENST00000346246.5																			0				NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(7)|prostate(2)	14						c.(979-981)Cgg>Tgg		AT rich interactive domain 3B (BRIGHT-like)							76	91	86					15																	74883589		2197	4296	6493	SO:0001583	missense	10620				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr15:74883589C>T		CCDS10264.1	15q24	2013-02-07	2006-11-08		ENSG00000179361	ENSG00000179361		"-"	14350	protein-coding gene	gene with protein product		612457	"AT rich interactive domain 3B (BRIGHT- like)"				Standard	NM_006465		Approved	BDP, DRIL2	uc002ayd.3	Q8IVW6	OTTHUMG00000141321	ENST00000346246.5:c.979C>T	15.37:g.74883589C>T	ENSP00000343126:p.Arg327Trp						p.R327W	NM_006465.2	NP_006456.1	Q8IVW6	ARI3B_HUMAN			6	1210	+			327			Interaction with RB1.		O95443|Q59HC9|Q6P9C9	Missense_Mutation	SNP	ENST00000346246.5	37	c.979C>T	CCDS10264.1	.	.	.	.	.	.	.	.	.	.	C	19.49	3.837167	0.71373	.	.	ENSG00000179361	ENST00000382537;ENST00000346246;ENST00000395077	T	0.56611	0.45	5.13	3.18	0.36537	.	0.000000	0.85682	D	0.000000	T	0.70718	0.3256	M	0.76170	2.325	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;0.995;1.0	T	0.73269	-0.4036	10	0.72032	D	0.01	-21.2017	13.6517	0.62314	0.5302:0.4698:0.0:0.0	.	327;327;327	B4DXL8;Q8IVW6;Q8IVW6-4	.;ARI3B_HUMAN;.	W	327	ENSP00000343126:R327W	ENSP00000343126:R327W	R	+	1	2	ARID3B	72670642	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	0.865000	0.27940	0.519000	0.28406	0.561000	0.74099	CGG		0.612	ARID3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280688.2	NM_006465		28	96	0	0	0	1	0	28	96					T	74883589	C	T	74883589	3	4	94	1	0	0	0	0	1	0	0	0	917	643	23	2	997	2	ARID3B	15	74883589	Missense_Mutation	SNP	C	TCGA-EJ-7782-01A-11D-2114-08	9260958	74883589	27647803	344	5163											
MAN2C1	4123	broad.mit.edu	37	chr15	75655014	75655014	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caaagatgaactcagggttcCgctccatgagctgcagggcg	10	7	13	11	2	1	3	1	2	0	1	3	3	3	3	2	2	3	4	2	2	2	1	rs149884810		TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr15:75655014C>T	ENST00000267978.5	-	7	912	c.866G>A	c.(865-867)cGg>cAg	p.R289Q	MAN2C1_ENST00000565683.1_Missense_Mutation_p.R289Q|MAN2C1_ENST00000563539.1_5'Flank|MAN2C1_ENST00000563622.1_Intron|MAN2C1_ENST00000569482.1_Missense_Mutation_p.R289Q	NM_006715.3	NP_006706.2	Q9NTJ4	MA2C1_HUMAN	mannosidase, alpha, class 2C, member 1	289					mannose metabolic process (GO:0006013)		alpha-mannosidase activity (GO:0004559)|carbohydrate binding (GO:0030246)|zinc ion binding (GO:0008270)			central_nervous_system(4)|endometrium(4)|kidney(6)|large_intestine(6)|lung(20)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	44						CTCAGGGTTCCGCTCCATGAG	0.622																																						ENST00000565683.1																			0				central_nervous_system(4)|endometrium(4)|kidney(6)|large_intestine(6)|lung(20)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	44						c.(865-867)cGg>cAg		mannosidase, alpha, class 2C, member 1		C	GLN/ARG	0,4394		0,0,2197	67	68	68		866	-10.9	0	15	dbSNP_134	68	2,8586	2.2+/-6.3	0,2,4292	no	missense	MAN2C1	NM_006715.2	43	0,2,6489	TT,TC,CC		0.0233,0.0,0.0154	benign	289/1041	75655014	2,12980	2197	4294	6491	SO:0001583	missense	4123				mannose metabolic process		alpha-mannosidase activity|carbohydrate binding|protein binding|zinc ion binding	g.chr15:75655014C>T	AF044414	CCDS32298.1, CCDS58389.1, CCDS58390.1, CCDS58391.1	15q24.2	2013-09-19			ENSG00000140400	ENSG00000140400	3.2.1.24		6827	protein-coding gene	gene with protein product		154580		MANA1, MANA		1757461, 752528	Standard	NM_006715		Approved		uc002bah.4	Q9NTJ4	OTTHUMG00000172698	ENST00000267978.5:c.866G>A	15.37:g.75655014C>T	ENSP00000267978:p.Arg289Gln					MAN2C1_ENST00000267978.5_Missense_Mutation_p.R289Q|MAN2C1_ENST00000569482.1_Missense_Mutation_p.R289Q|MAN2C1_ENST00000563622.1_Intron	p.R289Q	NM_001256494.1	NP_001243423.1	Q9NTJ4	MA2C1_HUMAN			7	877	-			289					H3BMX2|H3BQY8|H3BUT6|Q13358|Q68EM8|Q9UL64	Missense_Mutation	SNP	ENST00000267978.5	37	c.866G>A	CCDS32298.1	.	.	.	.	.	.	.	.	.	.	C	10.47	1.358650	0.24598	0.0	2.33E-4	ENSG00000140400	ENST00000267978	T	0.79352	-1.26	5.45	-10.9	0.00192	Glycoside hydrolase/deacetylase, beta/alpha-barrel (1);Glycoside hydrolase, family 38, core (2);	0.734425	0.13173	N	0.408140	T	0.50017	0.1591	N	0.12611	0.24	0.09310	N	1	P;B;B	0.38582	0.638;0.001;0.0	B;B;B	0.32805	0.153;0.003;0.002	T	0.47446	-0.9117	10	0.09843	T	0.71	-6.6637	18.6996	0.91615	0.0:0.1239:0.0:0.8761	.	71;289;289	B4DVP6;Q68EM8;Q9NTJ4	.;.;MA2C1_HUMAN	Q	289	ENSP00000267978:R289Q	ENSP00000267978:R289Q	R	-	2	0	MAN2C1	73442067	0.049000	0.20398	0.008000	0.14137	0.294000	0.27393	-0.301000	0.08232	-2.397000	0.00581	-0.459000	0.05422	CGG		0.622	MAN2C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419965.1			7	19	0	0	0	1	0	7	19					T	75655014	C	T	75655014	3	4	94	1	0	0	0	0	1	0	0	0	9218	652	23	2	2336	2	MAN2C1	15	75655014	Missense_Mutation	SNP	C	TCGA-EJ-7782-01A-11D-2114-08	771425	75655014	26876378	345	5164											
MEX3B	84206	broad.mit.edu	37	chr15	82336338	82336338	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tctgtggaagcactgccaagCgagctggagctgtcgttgcg	7	9	15	10	3	1	0	0	0	1	0	2	3	1	2	1	2	6	4	1	2	2	1			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr15:82336338C>T	ENST00000329713.4	-	2	1308	c.873G>A	c.(871-873)tcG>tcA	p.S291S	AC026956.1_ENST00000410589.1_RNA|MEX3B_ENST00000558133.1_3'UTR	NM_032246.4	NP_115622.2	Q6ZN04	MEX3B_HUMAN	mex-3 RNA binding family member B	291					protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|upper_aerodigestive_tract(1)	19						CACTGCCAAGCGAGCTGGAGC	0.692																																						ENST00000329713.4																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|upper_aerodigestive_tract(1)	19						c.(871-873)tcG>tcA		mex-3 RNA binding family member B							32	39	37					15																	82336338		2200	4294	6494	SO:0001819	synonymous_variant	84206				protein autophosphorylation	cytoplasmic mRNA processing body|nucleus	calcium ion binding|RNA binding|zinc ion binding	g.chr15:82336338C>T	AK131424	CCDS10319.1	15q25.1	2013-08-21	2013-08-21	2007-07-18	ENSG00000183496	ENSG00000183496		"RING-type (C3HC4) zinc fingers", "Mex-3 homologs"	25297	protein-coding gene	gene with protein product		611008	"ring finger and KH domain containing 3", "mex-3 homolog B (C. elegans)"	RKHD3		11230166, 17267406	Standard	NM_032246		Approved	DKFZp434J0617, RNF195	uc002bgq.2	Q6ZN04	OTTHUMG00000147356	ENST00000329713.4:c.873G>A	15.37:g.82336338C>T						MEX3B_ENST00000558133.1_3'UTR	p.S291S	NM_032246.3	NP_115622.2	Q6ZN04	MEX3B_HUMAN			2	1308	-			291					Q4G0W1|Q8IVG2|Q9H0J0	Silent	SNP	ENST00000329713.4	37	c.873G>A	CCDS10319.1																																																																																				0.692	MEX3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000304000.1	XM_290645		13	41	0	0	0	1	0	13	41					T	82336338	C	T	82336338	2	4	94	1	0	0	0	0	0	0	0	1	9510	755	27	1		1	MEX3B	15	82336338	Silent	SNP	C	TCGA-EJ-7782-01A-11D-2114-08	6681324	82336338	20195054	346	5165											
CPEB1	64506	broad.mit.edu	37	chr15	83221233	83221233	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acatcacgctaactcacctcCttgcagcgcatccttcggct	8	10	6	17	3	2	0	2	0	0	0	5	0	4	0	3	1	3	4	3	1	1	3			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr15:83221233C>A	ENST00000562019.1	-	8	1528	c.1212G>T	c.(1210-1212)aaG>aaT	p.K404N	CPEB1_ENST00000563800.1_Missense_Mutation_p.K426N|CPEB1_ENST00000568757.1_Missense_Mutation_p.K324N|CPEB1_ENST00000398592.2_Missense_Mutation_p.K173N|CPEB1_ENST00000398591.2_Missense_Mutation_p.K329N|CPEB1_ENST00000450751.2_Missense_Mutation_p.K324N|CPEB1_ENST00000423133.2_Missense_Mutation_p.K324N|RP11-152F13.10_ENST00000562833.1_Missense_Mutation_p.R134M|RP11-379H8.1_ENST00000568285.1_Intron|CPEB1_ENST00000261723.6_Missense_Mutation_p.K402N|CPEB1_ENST00000564522.1_Missense_Mutation_p.K324N|CPEB1_ENST00000568128.1_Missense_Mutation_p.K399N			Q9BZB8	CPEB1_HUMAN	cytoplasmic polyadenylation element binding protein 1	404	Necessary for stress granule assembly and correct localization in dcp1 bodies.|RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				cellular response to amino acid stimulus (GO:0071230)|cellular response to hypoxia (GO:0071456)|cellular response to insulin stimulus (GO:0032869)|mRNA processing (GO:0006397)|negative regulation of cytoplasmic translation (GO:2000766)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|ribonucleoprotein complex (GO:0030529)	metal ion binding (GO:0046872)|mRNA 3'-UTR AU-rich region binding (GO:0035925)|nucleotide binding (GO:0000166)|translation repressor activity, nucleic acid binding (GO:0000900)			breast(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(1)|lung(9)|ovary(1)|skin(1)	28			BRCA - Breast invasive adenocarcinoma(143;0.229)			AACTCACCTCCTTGCAGCGCA	0.522																																						ENST00000563800.1																			0				breast(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(1)|lung(9)|ovary(1)|skin(1)	28						c.(1276-1278)aaG>aaT		cytoplasmic polyadenylation element binding protein 1							64	63	63					15																	83221233		2120	4247	6367	SO:0001583	missense	64506				mRNA processing|regulation of translation	cell junction|cytoplasmic mRNA processing body|dendrite|postsynaptic density|postsynaptic membrane	nucleotide binding|RNA binding	g.chr15:83221233C>A	AF329402	CCDS42072.1, CCDS45329.1, CCDS45330.1, CCDS42072.2, CCDS45329.2, CCDS45330.2	15q25.1	2008-02-05				ENSG00000214575			21744	protein-coding gene	gene with protein product		607342				11223249	Standard	NM_001079533		Approved	FLJ13203, CPEB	uc002biv.3	Q9BZB8		ENST00000562019.1:c.1212G>T	15.37:g.83221233C>A	ENSP00000457836:p.Lys404Asn					CPEB1_ENST00000564522.1_Missense_Mutation_p.K324N|CPEB1_ENST00000562019.1_Missense_Mutation_p.K404N|CPEB1_ENST00000450751.2_Missense_Mutation_p.K324N|CPEB1_ENST00000423133.2_Missense_Mutation_p.K324N|CPEB1_ENST00000398591.2_Missense_Mutation_p.K329N|CPEB1_ENST00000398592.2_Missense_Mutation_p.K173N|CPEB1_ENST00000261723.6_Missense_Mutation_p.K402N|RP11-152F13.10_ENST00000562833.1_Missense_Mutation_p.R134M|CPEB1_ENST00000568757.1_Missense_Mutation_p.K324N|RP11-379H8.1_ENST00000568285.1_Intron|CPEB1_ENST00000568128.1_Missense_Mutation_p.K399N	p.K426N			Q9BZB8	CPEB1_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.229)		8	3003	-			404			Necessary for stress granule assembly and correct localization in dcp1 bodies.		B7Z6C6|Q86W46|Q8IV41|Q9BZB7|Q9H8V5	Missense_Mutation	SNP	ENST00000562019.1	37	c.1278G>T		.	.	.	.	.	.	.	.	.	.	C	18.79	3.699326	0.68501	.	.	ENSG00000214575	ENST00000450751;ENST00000398593;ENST00000423133;ENST00000398591;ENST00000261723;ENST00000398592	T;T;T;T	0.10573	2.86;2.86;2.86;2.86	5.84	2.94	0.34122	RNA recognition motif domain (1);	0.000000	0.85682	U	0.000000	T	0.33000	0.0848	M	0.86953	2.85	0.58432	D	0.999999	D;D;D;D	0.89917	1.0;1.0;0.997;1.0	D;D;D;D	0.91635	0.997;0.999;0.976;0.999	T	0.05767	-1.0865	10	0.87932	D	0	-10.669	7.6486	0.28336	0.0:0.6303:0.0:0.3697	.	402;399;404;399	B7Z237;Q9BZB8-3;Q9BZB8;E7ET70	.;.;CPEB1_HUMAN;.	N	399;399;324;329;402;173	ENSP00000397526:K324N;ENSP00000381591:K329N;ENSP00000261723:K402N;ENSP00000381592:K173N	ENSP00000261723:K402N	K	-	3	2	CPEB1	81018288	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	1.543000	0.36147	0.804000	0.34136	-0.251000	0.11542	AAG		0.522	CPEB1-006	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000421102.1	NM_030594		7	27	1	0	1.26484e-09	1	1.33787e-09	7	27					A	83221233	C	A	83221233	3	1	94	1	0	0	0	0	1	0	0	0	3800	680	24	5	508	5	CPEB1	15	83221233	Missense_Mutation	SNP	C	TCGA-EJ-7782-01A-11D-2114-08	884895	83221233	19310159	347	5166											
PDE8A	5151	broad.mit.edu	37	chr15	85659319	85659325	+	Frame_Shift_Del	DEL	ATTTTTG	ATTTTTG	-																															aggaatactgggactttgatAtttttgaactggaggctgcc																										TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr15:85659319_85659325delATTTTTG	ENST00000310298.4	+	17	1756_1762	c.1504_1510delATTTTTG	c.(1504-1512)atttttgaafs	p.IFE502fs	PDE8A_ENST00000557957.1_Frame_Shift_Del_p.IFE430fs|PDE8A_ENST00000394553.1_Frame_Shift_Del_p.IFE502fs|PDE8A_ENST00000339708.5_Frame_Shift_Del_p.IFE456fs			O60658	PDE8A_HUMAN	phosphodiesterase 8A	502					cAMP catabolic process (GO:0006198)|cyclic nucleotide metabolic process (GO:0009187)|phosphorelay signal transduction system (GO:0000160)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	25	Colorectal(223;0.227)		BRCA - Breast invasive adenocarcinoma(143;0.0608)		Caffeine(DB00201)|Ketotifen(DB00920)	GGACTTTGATATTTTTGAACTGGAGGC	0.493																																						ENST00000310298.4																			0				NS(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	25						c.(1504-1512)aafs		phosphodiesterase 8A																																				SO:0001589	frameshift_variant	5151				cyclic nucleotide metabolic process|regulation of transcription, DNA-dependent	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|two-component response regulator activity	g.chr15:85659319_85659325delATTTTTG	AF056490	CCDS10336.1, CCDS10337.1, CCDS58397.1	15q25.3	2008-05-14			ENSG00000073417	ENSG00000073417	3.1.4.17	"Phosphodiesterases"	8793	protein-coding gene	gene with protein product		602972				9618252	Standard	NM_001243137		Approved	HsT19550	uc002blh.3	O60658	OTTHUMG00000148670	ENST00000310298.4:c.1504_1510delATTTTTG	15.37:g.85659319_85659325delATTTTTG	ENSP00000311453:p.Ile502fs					PDE8A_ENST00000557957.1_Frame_Shift_Del_p.IFE430fs|PDE8A_ENST00000339708.5_Frame_Shift_Del_p.IFE456fs|PDE8A_ENST00000394553.1_Frame_Shift_Del_p.IFE502fs	p.IFE502fs			O60658	PDE8A_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0608)		17	1756_1762	+	Colorectal(223;0.227)		502					B3KXE6|H0YMZ7|Q6P9H3|Q969I1|Q96PC9|Q96PD0|Q96PD1|Q96T71|Q9UMB7|Q9UMC3	Frame_Shift_Del	DEL	ENST00000310298.4	37	c.1504_1510delATTTTTG	CCDS10336.1																																																																																				0.493	PDE8A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000309018.1	NM_002605		22	55						22	55	---	---	---	---	-	85659325	ATTTTTG	-	85659319	7	5	94	1	0	1	0	1	0	0	0	0	11653	449	16	0	1566	0	PDE8A	15	85659319	Frame_Shift_Del	DEL	ATTTTTG	TCGA-EJ-7782-01A-11D-2114-08	2438086	85659319	16872073	348	5167											
SEMA4B	10509	broad.mit.edu	37	chr15	90763060	90763060	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tacatcaagatcctcctgccGctcagcggcagtcacctgtt	8	10	8	15	2	3	1	3	0	0	1	5	1	5	1	4	1	3	3	4	1	2	2	rs562838911	byFrequency	TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr15:90763060G>A	ENST00000411539.2	+	4	680	c.420G>A	c.(418-420)ccG>ccA	p.P140P	SEMA4B_ENST00000379122.3_Silent_p.P135P|SEMA4B_ENST00000332496.6_Silent_p.P140P	NM_198925.2	NP_945119.1	Q9NPR2	SEM4B_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4B	135	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synapse (GO:0045202)	receptor activity (GO:0004872)			NS(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)	12	Melanoma(11;0.00551)|Lung NSC(78;0.0125)|all_lung(78;0.0272)		BRCA - Breast invasive adenocarcinoma(143;0.0107)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.217)			TCCTCCTGCCGCTCAGCGGCA	0.622											OREG0023468	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G|||	7	0.00139776	0	0	5008	,	,		15614	0		0	False		,,,				2504	0.0072					ENST00000411539.2																			0				NS(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)	12						c.(418-420)ccG>ccA		sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4B							56	57	57					15																	90763060		1949	4140	6089	SO:0001819	synonymous_variant	10509							g.chr15:90763060G>A	AB051532	CCDS45347.1	15q25	2008-07-18						"Semaphorins"	10730	protein-coding gene	gene with protein product				SEMAC		7748561	Standard	NM_020210		Approved	SemC, KIAA1745, MGC131831	uc002boz.3	Q9NPR2		ENST00000411539.2:c.420G>A	15.37:g.90763060G>A			OREG0023468	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1277	SEMA4B_ENST00000379122.3_Silent_p.P135P|SEMA4B_ENST00000332496.6_Silent_p.P140P	p.P140P	NM_198925.2	NP_945119.1			BRCA - Breast invasive adenocarcinoma(143;0.0107)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.217)		4	680	+	Melanoma(11;0.00551)|Lung NSC(78;0.0125)|all_lung(78;0.0272)							Q6UXE3|Q8WVP9|Q96FK5|Q9C0B8|Q9H691|Q9NPM8|Q9NPN0	Silent	SNP	ENST00000411539.2	37	c.420G>A	CCDS45347.1																																																																																				0.622	SEMA4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416810.1	NM_198925		17	17	0	0	0	1	0	17	17					A	90763060	G	A	90763060	2	1	94	1	0	0	0	0	0	0	0	1	14032	1074	38	1		1	SEMA4B	15	90763060	Silent	SNP	G	TCGA-EJ-7782-01A-11D-2114-08	5103741	90763060	11768332	349	5168											
MAN2A2	4122	broad.mit.edu	37	chr15	91456125	91456125	+	Frame_Shift_Del	DEL	C	C	-																															agccctacgtccccaaggagCcccccgtgctgcgtgtcact																										TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr15:91456125delC	ENST00000559717.1	+	17	2947	c.2488delC	c.(2488-2490)cccfs	p.P831fs	MAN2A2_ENST00000430376.2_Frame_Shift_Del_p.P21fs|MAN2A2_ENST00000431652.2_Frame_Shift_Del_p.P339fs|MAN2A2_ENST00000360468.3_Frame_Shift_Del_p.P831fs			P49641	MA2A2_HUMAN	mannosidase, alpha, class 2A, member 2	831					cellular protein metabolic process (GO:0044267)|mannose metabolic process (GO:0006013)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|hydrolase activity, hydrolyzing N-glycosyl compounds (GO:0016799)|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity (GO:0004572)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.229)			CCCCAAGGAGCCCCCCGTGCT	0.572																																						ENST00000360468.3																			0				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47						c.(2488-2490)ccfs		mannosidase, alpha, class 2A, member 2							94	89	91					15																	91456125		2198	4298	6496	SO:0001589	frameshift_variant	4122				mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding	g.chr15:91456125delC	L28821	CCDS32332.1	15q25	2011-06-30			ENSG00000196547	ENSG00000196547			6825	protein-coding gene	gene with protein product		600988				8524845	Standard	NM_006122		Approved	MANA2X, HsT19662	uc002bqc.3	P49641		ENST00000559717.1:c.2488delC	15.37:g.91456125delC	ENSP00000452948:p.Pro831fs					MAN2A2_ENST00000559717.1_Frame_Shift_Del_p.P831fs|MAN2A2_ENST00000430376.2_Frame_Shift_Del_p.P21fs|MAN2A2_ENST00000431652.2_Frame_Shift_Del_p.P339fs	p.P831fs	NM_006122.2	NP_006113.2	P49641	MA2A2_HUMAN	Lung(145;0.229)		16	2506	+	Lung NSC(78;0.0771)|all_lung(78;0.137)		831					A6NH12|A8K1E8|Q13754	Frame_Shift_Del	DEL	ENST00000559717.1	37	c.2488delC	CCDS32332.1																																																																																				0.572	MAN2A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418246.5	NM_006122		8	69						8	69	---	---	---	---	-	91456125	C	-	91456125	7	5	94	1	0	1	0	1	0	0	0	0	9215	739	26	0	2550	0	MAN2A2	15	91456125	Frame_Shift_Del	DEL	C	TCGA-EJ-7782-01A-11D-2114-08	693065	91456125	11075267	350	5169											
RPUSD1	113000	broad.mit.edu	37	chr16	836359	836359	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagggcactgcagtgcacgCgcagctggtgtgtccggcct	5	7	15	14	3	0	0	0	0	0	0	1	0	1	0	3	3	3	5	3	3	0	0			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr16:836359C>A	ENST00000561734.1	-	5	773	c.530G>T	c.(529-531)cGc>cTc	p.R177L	MSLNL_ENST00000442466.1_5'Flank|RPUSD1_ENST00000567114.1_Missense_Mutation_p.R48L|RPUSD1_ENST00000565809.1_3'UTR|CHTF18_ENST00000317063.6_5'Flank|CHTF18_ENST00000262315.9_5'Flank|CHTF18_ENST00000455171.2_5'Flank|RPUSD1_ENST00000007264.2_Missense_Mutation_p.R177L			Q9UJJ7	RUSD1_HUMAN	RNA pseudouridylate synthase domain containing 1	177					pseudouridine synthesis (GO:0001522)		pseudouridine synthase activity (GO:0009982)|RNA binding (GO:0003723)			endometrium(3)|lung(2)|skin(2)	7		Hepatocellular(780;0.00335)				GCAGTGCACGCGCAGCTGGTG	0.687																																						ENST00000561734.1																			0				endometrium(3)|lung(2)|skin(2)	7						c.(529-531)cGc>cTc		RNA pseudouridylate synthase domain containing 1							35	39	37					16																	836359		2199	4297	6496	SO:0001583	missense	113000				pseudouridine synthesis		pseudouridine synthase activity|RNA binding	g.chr16:836359C>A	AE006465	CCDS10426.1	16p13.3	2013-02-11	2005-01-31	2005-01-31	ENSG00000007376	ENSG00000007376		"RNA pseudouridylate synthase domain containing"	14173	protein-coding gene	gene with protein product			"chromosome 16 open reading frame 40"	C16orf40			Standard	NM_058192		Approved	RLUCL, MGC19600	uc002ckb.3	Q9UJJ7	OTTHUMG00000047840	ENST00000561734.1:c.530G>T	16.37:g.836359C>A	ENSP00000455026:p.Arg177Leu					RPUSD1_ENST00000567114.1_Missense_Mutation_p.R48L|RPUSD1_ENST00000565809.1_3'UTR|RPUSD1_ENST00000007264.2_Missense_Mutation_p.R177L	p.R177L			Q9UJJ7	RUSD1_HUMAN			5	773	-		Hepatocellular(780;0.00335)	177					D3DU66	Missense_Mutation	SNP	ENST00000561734.1	37	c.530G>T	CCDS10426.1	.	.	.	.	.	.	.	.	.	.	C	20.5	3.995733	0.74703	.	.	ENSG00000007376	ENST00000007264	T	0.56103	0.48	3.88	3.88	0.44766	Pseudouridine synthase, RsuA and RluB/C/D/E/F (1);Pseudouridine synthase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.82926	0.5143	H	0.98738	4.315	0.53688	D	0.999974	D	0.89917	1.0	D	0.97110	1.0	D	0.90064	0.4158	10	0.87932	D	0	-26.7718	14.6252	0.68616	0.0:1.0:0.0:0.0	.	177	Q9UJJ7	RUSD1_HUMAN	L	177	ENSP00000007264:R177L	ENSP00000007264:R177L	R	-	2	0	RPUSD1	776360	1.000000	0.71417	0.807000	0.32361	0.535000	0.34838	5.828000	0.69307	2.028000	0.59812	0.456000	0.33151	CGC		0.687	RPUSD1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000420620.1	NM_058192		6	55	1	0	0.0293803	1	0.0294953	6	55					A	836359	C	A	836359	3	1	94	1	0	0	0	0	1	0	0	0	13666	768	27	5	412	5	RPUSD1	16	836359	Missense_Mutation	SNP	C	TCGA-EJ-7782-01A-11D-2114-08		836359	89518394	351	5170											
PKD1	5310	broad.mit.edu	37	chr16	2143019	2143019	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcgctttgcagacggtaggCgtgcccatggcatgaggcat	7	8	16	10	3	0	2	0	1	0	1	0	2	0	2	1	5	2	5	1	5	1	2			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr16:2143019C>T	ENST00000262304.4	-	38	11300	c.11092G>A	c.(11092-11094)Gcc>Acc	p.A3698T	MIR1225_ENST00000408729.1_RNA|RP11-304L19.3_ENST00000565937.1_RNA|PKD1_ENST00000423118.1_Missense_Mutation_p.A3697T|RP11-304L19.1_ENST00000570072.1_RNA	NM_001009944.2	NP_001009944	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	3698					anatomical structure morphogenesis (GO:0009653)|branching morphogenesis of an epithelial tube (GO:0048754)|calcium ion transmembrane transport (GO:0070588)|calcium-independent cell-matrix adhesion (GO:0007161)|cartilage condensation (GO:0001502)|cartilage development (GO:0051216)|cation transmembrane transport (GO:0098655)|cell cycle arrest (GO:0007050)|cell-matrix adhesion (GO:0007160)|cytoplasmic sequestering of transcription factor (GO:0042994)|detection of mechanical stimulus (GO:0050982)|digestive tract development (GO:0048565)|embryonic placenta development (GO:0001892)|genitalia development (GO:0048806)|heart development (GO:0007507)|homophilic cell adhesion (GO:0007156)|in utero embryonic development (GO:0001701)|JAK-STAT cascade (GO:0007259)|kidney development (GO:0001822)|liver development (GO:0001889)|lung epithelium development (GO:0060428)|mesonephric duct development (GO:0072177)|mesonephric tubule development (GO:0072164)|metanephric ascending thin limb development (GO:0072218)|metanephric collecting duct development (GO:0072205)|metanephric distal tubule morphogenesis (GO:0072287)|metanephric proximal tubule development (GO:0072237)|neural tube development (GO:0021915)|neuropeptide signaling pathway (GO:0007218)|nitrogen compound metabolic process (GO:0006807)|peptidyl-serine phosphorylation (GO:0018105)|placenta blood vessel development (GO:0060674)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of protein binding (GO:0032092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein export from nucleus (GO:0006611)|regulation of mitotic spindle organization (GO:0060236)|regulation of proteasomal protein catabolic process (GO:0061136)|response to fluid shear stress (GO:0034405)|skin development (GO:0043588)|spinal cord development (GO:0021510)	basolateral plasma membrane (GO:0016323)|cilium (GO:0005929)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|motile primary cilium (GO:0031512)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|polycystin complex (GO:0002133)	calcium channel activity (GO:0005262)|carbohydrate binding (GO:0030246)|cation channel activity (GO:0005261)|ion channel binding (GO:0044325)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						AGACGGTAGGCGTGCCCATGG	0.642																																						ENST00000262304.4																			0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						c.(11092-11094)Gcc>Acc		polycystic kidney disease 1 (autosomal dominant)							108	108	108					16																	2143019		2198	4299	6497	SO:0001583	missense	5310				calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding	g.chr16:2143019C>T	L33243	CCDS32369.1, CCDS45385.1	16p13.3	2014-01-28			ENSG00000008710	ENSG00000008710		"Voltage-gated ion channels / Transient receptor potential cation channels"	9008	protein-coding gene	gene with protein product	"polycystin 1", "transient receptor potential cation channel, subfamily P, member 1"	601313					Standard	NM_001009944		Approved	PBP, Pc-1, TRPP1	uc002cos.1	P98161	OTTHUMG00000155795	ENST00000262304.4:c.11092G>A	16.37:g.2143019C>T	ENSP00000262304:p.Ala3698Thr					RP11-304L19.1_ENST00000570072.1_RNA|PKD1_ENST00000423118.1_Missense_Mutation_p.A3697T	p.A3698T	NM_001009944.2	NP_001009944.2	P98161	PKD1_HUMAN			38	11300	-			3698					Q15140|Q15141	Missense_Mutation	SNP	ENST00000262304.4	37	c.11092G>A	CCDS32369.1	.	.	.	.	.	.	.	.	.	.	C	13.04	2.117501	0.37339	.	.	ENSG00000008710	ENST00000262304;ENST00000423118;ENST00000306101	T;T	0.37752	1.18;1.18	3.46	3.46	0.39613	.	0.245550	0.40908	D	0.000985	T	0.47911	0.1471	L	0.41236	1.265	0.34943	D	0.750538	D;D	0.89917	1.0;0.999	D;D	0.91635	0.999;0.922	T	0.60193	-0.7311	10	0.59425	D	0.04	.	11.2706	0.49136	0.0:0.906:0.0:0.094	.	3697;3698	P98161-3;P98161	.;PKD1_HUMAN	T	3698;3697;3032	ENSP00000262304:A3698T;ENSP00000399501:A3697T	ENSP00000262304:A3698T	A	-	1	0	PKD1	2083020	0.997000	0.39634	0.903000	0.35520	0.535000	0.34838	3.984000	0.56923	1.954000	0.56735	0.561000	0.74099	GCC		0.642	PKD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341688.1			11	73	0	0	0	1	0	11	73					T	2143019	C	T	2143019	3	4	94	1	0	0	0	0	1	0	0	0	11963	768	27	1	1855	1	PKD1	16	2143019	Missense_Mutation	SNP	C	TCGA-EJ-7782-01A-11D-2114-08	1306660	2143019	88211734	352	5171											
TRAF7	84231	broad.mit.edu	37	chr16	2226330	2226330	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaccagggcagtgtcaccgCgctggctgtgtcccggggcc	4	7	15	15	3	2	0	2	0	0	0	3	0	3	0	4	4	0	3	4	4	0	0			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr16:2226330C>T	ENST00000326181.6	+	20	2075	c.1943C>T	c.(1942-1944)gCg>gTg	p.A648V		NM_032271.2	NP_115647.2	Q6Q0C0	TRAF7_HUMAN	TNF receptor-associated factor 7, E3 ubiquitin protein ligase	648					activation of MAPKKK activity (GO:0000185)|apoptotic process (GO:0006915)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of MAPK cascade (GO:0043410)|protein ubiquitination (GO:0016567)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasmic vesicle (GO:0031410)|ubiquitin ligase complex (GO:0000151)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	23						AGTGTCACCGCGCTGGCTGTG	0.642																																						ENST00000326181.6																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	23						c.(1942-1944)gCg>gTg		TNF receptor-associated factor 7, E3 ubiquitin protein ligase							24	23	23					16																	2226330		2188	4297	6485	SO:0001583	missense	84231				activation of MAPKKK activity|apoptosis|regulation of apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic membrane-bounded vesicle|ubiquitin ligase complex	identical protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr16:2226330C>T	AL136921	CCDS10461.1	16p13.3	2013-01-10	2012-02-23	2004-06-04	ENSG00000131653	ENSG00000131653		"RING-type (C3HC4) zinc fingers", "WD repeat domain containing"	20456	protein-coding gene	gene with protein product		606692	"ring finger and WD repeat domain 1", "TNF receptor-associated factor 7"	RFWD1		11230166, 15001576	Standard	NM_032271		Approved	RNF119, DKFZp586I021, MGC7807	uc002cow.3	Q6Q0C0	OTTHUMG00000128826	ENST00000326181.6:c.1943C>T	16.37:g.2226330C>T	ENSP00000318944:p.Ala648Val						p.A648V	NM_032271.2	NP_115647.2	Q6Q0C0	TRAF7_HUMAN			20	2075	+			648					Q9H073	Missense_Mutation	SNP	ENST00000326181.6	37	c.1943C>T	CCDS10461.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.057413	0.76074	.	.	ENSG00000131653	ENST00000326181	T	0.61859	0.07	4.99	4.99	0.66335	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.61850	0.2380	M	0.64080	1.96	0.80722	D	1	D	0.59357	0.985	P	0.46208	0.507	T	0.67941	-0.5540	10	0.62326	D	0.03	-34.4038	17.4344	0.87547	0.0:1.0:0.0:0.0	.	648	Q6Q0C0	TRAF7_HUMAN	V	648	ENSP00000318944:A648V	ENSP00000318944:A648V	A	+	2	0	TRAF7	2166331	1.000000	0.71417	0.214000	0.23707	0.737000	0.42083	6.915000	0.75770	2.599000	0.87857	0.563000	0.77884	GCG		0.642	TRAF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250762.1	NM_032271		6	12	0	0	0	1	0	6	12					T	2226330	C	T	2226330	3	4	94	1	0	0	0	0	1	0	0	0	16443	768	27	1	2017	1	TRAF7	16	2226330	Missense_Mutation	SNP	C	TCGA-EJ-7782-01A-11D-2114-08	83311	2226330	88128423	353	5172											
THOC6	79228	broad.mit.edu	37	chr16	3076395	3076395	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaagtgcctgagatcaacgCtttgctgctggtccccaagg	8	9	13	11	1	1	1	1	1	0	1	2	3	2	2	3	3	4	3	3	3	3	1			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr16:3076395C>A	ENST00000326266.8	+	6	688	c.392C>A	c.(391-393)gCt>gAt	p.A131D	HCFC1R1_ENST00000574151.1_5'Flank|THOC6_ENST00000574549.1_Missense_Mutation_p.A107D|HCFC1R1_ENST00000354679.3_5'Flank|THOC6_ENST00000575576.1_Missense_Mutation_p.A107D|HCFC1R1_ENST00000396916.1_5'Flank|HCFC1R1_ENST00000572355.1_5'Flank|HCFC1R1_ENST00000248089.3_5'Flank|HCFC1R1_ENST00000574980.1_5'Flank|THOC6_ENST00000253952.9_Missense_Mutation_p.A131D	NM_024339.3	NP_077315.2	Q86W42	THOC6_HUMAN	THO complex 6 homolog (Drosophila)	131					apoptotic process (GO:0006915)|central nervous system development (GO:0007417)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|negative regulation of apoptotic process (GO:0043066)|RNA splicing (GO:0008380)|viral mRNA export from host cell nucleus (GO:0046784)	nucleus (GO:0005634)|THO complex (GO:0000347)|THO complex part of transcription export complex (GO:0000445)|transcription export complex (GO:0000346)	RNA binding (GO:0003723)			central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	13						GAGATCAACGCTTTGCTGCTG	0.542																																						ENST00000326266.8																			0				central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	13						c.(391-393)gCt>gAt		THO complex 6 homolog (Drosophila)							120	102	108					16																	3076395		2198	4300	6498	SO:0001583	missense	79228				intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing	THO complex part of transcription export complex	RNA binding	g.chr16:3076395C>A	BC050674	CCDS10491.1, CCDS45392.1	16p13.3	2013-02-11	2006-03-02	2006-03-02		ENSG00000131652		"WD repeat domain containing", "THO complex subunits"	28369	protein-coding gene	gene with protein product	"functional spliceosome-associated protein 35"	615403	"WD repeat domain 58"	WDR58		12477932	Standard	NM_024339		Approved	MGC2655, fSAP35	uc002ctb.2	Q86W42		ENST00000326266.8:c.392C>A	16.37:g.3076395C>A	ENSP00000326531:p.Ala131Asp					THOC6_ENST00000574549.1_Missense_Mutation_p.A107D|THOC6_ENST00000253952.9_Missense_Mutation_p.A131D|THOC6_ENST00000575576.1_Missense_Mutation_p.A107D	p.A131D	NM_024339.3	NP_077315.2	Q86W42	THOC6_HUMAN			6	688	+			131					B2RA85|Q8NBR1|Q9BTV9	Missense_Mutation	SNP	ENST00000326266.8	37	c.392C>A	CCDS10491.1	.	.	.	.	.	.	.	.	.	.	C	14.81	2.645504	0.47258	.	.	ENSG00000131652	ENST00000326266;ENST00000253952	T;T	0.29142	1.58;1.58	5.7	5.7	0.88788	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.456841	0.25148	N	0.032761	T	0.33789	0.0875	M	0.65498	2.005	0.46749	D	0.999189	B;B	0.28850	0.225;0.103	B;B	0.26517	0.07;0.03	T	0.15350	-1.0440	10	0.72032	D	0.01	-19.6948	12.9836	0.58579	0.0:0.8377:0.1623:0.0	.	131;131	Q86W42-3;Q86W42	.;THOC6_HUMAN	D	131	ENSP00000326531:A131D;ENSP00000253952:A131D	ENSP00000253952:A131D	A	+	2	0	THOC6	3016396	1.000000	0.71417	0.979000	0.43373	0.954000	0.61252	3.284000	0.51708	2.696000	0.92011	0.561000	0.74099	GCT		0.542	THOC6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436981.1	NM_024339		20	23	1	0	1.15919e-05	1	1.20134e-05	20	23					A	3076395	C	A	3076395	3	1	94	1	0	0	0	0	1	0	0	0	15866	797	28	5	414	5	THOC6	16	3076395	Missense_Mutation	SNP	C	TCGA-EJ-7782-01A-11D-2114-08	850065	3076395	87278358	354	5173											
TEKT5	146279	broad.mit.edu	37	chr16	10788424	10788424	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccgggaggcctcggccccacGcacctgcagctggttggact	5	6	14	16	3	0	0	0	0	0	0	1	2	0	2	5	5	2	4	5	5	0	1	rs143356838		TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr16:10788424G>A	ENST00000283025.2	-	1	378	c.307C>T	c.(307-309)Cgt>Tgt	p.R103C	RP11-109M19.1_ENST00000576710.1_RNA	NM_144674.1	NP_653275.1	Q96M29	TEKT5_HUMAN	tektin 5	103						cilium (GO:0005929)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)	34						TCGGCCCCACGCACCTGCAGC	0.672																																						ENST00000283025.2																			0				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)	34						c.(307-309)Cgt>Tgt		tektin 5		G	CYS/ARG	1,4393		0,1,2196	59	69	66		307	2.3	0	16	dbSNP_134	66	0,8600		0,0,4300	no	missense	TEKT5	NM_144674.1	180	0,1,6496	AA,AG,GG		0.0,0.0228,0.0077	benign	103/486	10788424	1,12993	2197	4300	6497	SO:0001583	missense	146279				microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule		g.chr16:10788424G>A		CCDS10542.1	16p13.13	2014-01-21			ENSG00000153060	ENSG00000153060			26554	protein-coding gene	gene with protein product							Standard	NM_144674		Approved	FLJ32871, CT149	uc002czz.1	Q96M29	OTTHUMG00000129750	ENST00000283025.2:c.307C>T	16.37:g.10788424G>A	ENSP00000283025:p.Arg103Cys						p.R103C	NM_144674.1	NP_653275.1	Q96M29	TEKT5_HUMAN			1	378	-			103					A1L3Z3	Missense_Mutation	SNP	ENST00000283025.2	37	c.307C>T	CCDS10542.1	.	.	.	.	.	.	.	.	.	.	.	6.466	0.454167	0.12283	2.28E-4	0.0	ENSG00000153060	ENST00000283025	T	0.02682	4.2	5.4	2.26	0.28386	.	0.645656	0.14114	N	0.340523	T	0.02342	0.0072	N	0.25485	0.75	0.20764	N	0.999857	B	0.17268	0.021	B	0.21151	0.033	T	0.45041	-0.9288	10	0.49607	T	0.09	-4.9599	4.1399	0.10188	0.0768:0.1249:0.405:0.3933	.	103	Q96M29	TEKT5_HUMAN	C	103	ENSP00000283025:R103C	ENSP00000283025:R103C	R	-	1	0	TEKT5	10695925	0.015000	0.18098	0.001000	0.08648	0.142000	0.21351	1.092000	0.30927	0.298000	0.22638	0.650000	0.86243	CGT		0.672	TEKT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251963.1	NM_144674		7	78	0	0	0	1	0	7	78					A	10788424	G	A	10788424	3	1	94	1	0	0	0	0	1	0	0	0	15753	1087	38	1	1178	1	TEKT5	16	10788424	Missense_Mutation	SNP	G	TCGA-EJ-7782-01A-11D-2114-08	7712029	10788424	79566329	355	5174											
GPRC5B	51704	broad.mit.edu	37	chr16	19883185	19883185	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttgttctccatataggccCgcggcagctgcacgtcctcc	5	10	9	17	3	1	0	0	0	1	0	4	0	3	0	5	2	2	4	5	2	2	4			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr16:19883185C>A	ENST00000300571.2	-	2	1174	c.983G>T	c.(982-984)cGg>cTg	p.R328L	GPRC5B_ENST00000569479.1_Missense_Mutation_p.R328L|GPRC5B_ENST00000537135.1_Missense_Mutation_p.R354L|GPRC5B_ENST00000535671.1_Missense_Mutation_p.R328L|GPRC5B_ENST00000569847.1_Missense_Mutation_p.R328L	NM_016235.1	NP_057319.1	Q9NZH0	GPC5B_HUMAN	G protein-coupled receptor, class C, group 5, member B	328					glucose homeostasis (GO:0042593)|locomotory behavior (GO:0007626)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of inflammatory response (GO:0050729)|positive regulation of macrophage cytokine production (GO:0060907)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein tyrosine kinase activity (GO:0061098)	cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane raft (GO:0045121)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|G-protein coupled receptor binding (GO:0001664)|protein kinase activator activity (GO:0030295)|protein kinase binding (GO:0019901)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						CATATAGGCCCGCGGCAGCTG	0.607																																						ENST00000300571.2																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						c.(982-984)cGg>cTg		G protein-coupled receptor, family C, group 5, member B							78	75	76					16																	19883185		2197	4300	6497	SO:0001583	missense	0							g.chr16:19883185C>A	AF202640	CCDS10581.1	16p12	2014-01-30	2014-01-30		ENSG00000167191	ENSG00000167191		"GPCR / Class C : Orphans"	13308	protein-coding gene	gene with protein product		605948	"G protein-coupled receptor, family C, group 1, member B", "G protein-coupled receptor, family C, group 5, member B"			10493829, 10783259	Standard	XM_005255357		Approved	RAIG-2	uc002dgt.3	Q9NZH0	OTTHUMG00000131460	ENST00000300571.2:c.983G>T	16.37:g.19883185C>A	ENSP00000300571:p.Arg328Leu					GPRC5B_ENST00000537135.1_Missense_Mutation_p.R354L|GPRC5B_ENST00000535671.1_Missense_Mutation_p.R328L|GPRC5B_ENST00000569847.1_Missense_Mutation_p.R328L|GPRC5B_ENST00000569479.1_Missense_Mutation_p.R328L	p.R328L	NM_016235.1	NP_057319.1	Q9NZH0	GPC5B_HUMAN			2	1174	-			328					D2DFB0|O75205|Q8NBZ8	Missense_Mutation	SNP	ENST00000300571.2	37	c.983G>T	CCDS10581.1	.	.	.	.	.	.	.	.	.	.	C	23.7	4.446752	0.84101	.	.	ENSG00000167191	ENST00000300571;ENST00000535671;ENST00000538074;ENST00000537135	T;T;T	0.30981	1.53;1.52;1.51	5.18	5.18	0.71444	.	0.727526	0.13189	N	0.406857	T	0.51975	0.1706	L	0.50333	1.59	0.58432	D	0.999999	D;D	0.71674	0.998;0.997	D;D	0.76071	0.947;0.987	T	0.33879	-0.9851	9	.	.	.	.	17.8587	0.88775	0.0:1.0:0.0:0.0	.	354;328	B7Z831;Q9NZH0	.;GPC5B_HUMAN	L	328;328;177;354	ENSP00000300571:R328L;ENSP00000442858:R328L;ENSP00000441775:R354L	.	R	-	2	0	GPRC5B	19790686	0.998000	0.40836	0.714000	0.30535	0.975000	0.68041	3.152000	0.50677	2.688000	0.91661	0.655000	0.94253	CGG		0.607	GPRC5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254285.1			5	60	1	0	3.59834e-05	1	3.70672e-05	5	60					A	19883185	C	A	19883185	3	1	94	1	0	0	0	0	1	0	0	0	6725	652	23	5	240	5	GPRC5B	16	19883185	Missense_Mutation	SNP	C	TCGA-EJ-7782-01A-11D-2114-08	9094761	19883185	70471568	356	5175											
DNAH3	55567	broad.mit.edu	37	chr16	21053359	21053359	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggcatttaccttgagattgTcgggcagttcagccctgcca	7	12	11	11	1	1	1	1	1	0	1	2	2	1	1	3	2	3	3	3	2	1	5			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr16:21053359T>C	ENST00000261383.3	-	32	4627	c.4628A>G	c.(4627-4629)gAc>gGc	p.D1543G	DNAH3_ENST00000415178.1_Missense_Mutation_p.D1543G	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	1543	AAA 1. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		CTTGAGATTGTCGGGCAGTTC	0.517																																						ENST00000261383.3																			0				NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202						c.(4627-4629)gAc>gGc		dynein, axonemal, heavy chain 3							88	82	84					16																	21053359		2201	4300	6501	SO:0001583	missense	55567				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr16:21053359T>C	U83574	CCDS10594.1	16p12.2	2008-08-01	2006-09-04		ENSG00000158486	ENSG00000158486		"Axonemal dyneins"	2949	protein-coding gene	gene with protein product		603334	"dynein, axonemal, heavy polypeptide 3"			9256245, 9373155	Standard	NM_017539		Approved	Dnahc3b, DLP3, Hsadhc3, DKFZp434N074	uc010vbe.2	Q8TD57	OTTHUMG00000090677	ENST00000261383.3:c.4628A>G	16.37:g.21053359T>C	ENSP00000261383:p.Asp1543Gly					DNAH3_ENST00000415178.1_Missense_Mutation_p.D1543G	p.D1543G	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN		GBM - Glioblastoma multiforme(48;0.207)	32	4627	-			1543			AAA 1 (By similarity).		O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Missense_Mutation	SNP	ENST00000261383.3	37	c.4628A>G	CCDS10594.1	.	.	.	.	.	.	.	.	.	.	T	18.69	3.678545	0.68042	.	.	ENSG00000158486	ENST00000261383;ENST00000415178	T;T	0.39787	1.06;1.06	4.82	4.82	0.62117	ATPase, AAA+ type, core (1);	0.129548	0.49916	D	0.000140	T	0.71762	0.3378	M	0.93197	3.39	0.80722	D	1	D	0.76494	0.999	D	0.69479	0.964	T	0.80712	-0.1260	10	0.87932	D	0	.	14.8466	0.70264	0.0:0.0:0.0:1.0	.	1543	Q8TD57	DYH3_HUMAN	G	1543	ENSP00000261383:D1543G;ENSP00000394245:D1543G	ENSP00000261383:D1543G	D	-	2	0	DNAH3	20960860	1.000000	0.71417	1.000000	0.80357	0.407000	0.30961	7.776000	0.85560	2.155000	0.67459	0.482000	0.46254	GAC		0.517	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207361.1	NM_017539		20	48	0	0	0	1	0	20	48					C	21053359	T	C	21053359	3	2	94	1	0	0	0	0	1	0	0	0	4603	1667	58	4	7845	4	DNAH3	16	21053359	Missense_Mutation	SNP	T	TCGA-EJ-7782-01A-11D-2114-08	1170174	21053359	69301394	357	5176											
IL4R	3566	broad.mit.edu	37	chr16	27372111	27372111	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cacagtgggagaagcggtccCgaggccaggaaccagccaag	12	2	15	12	2	0	1	0	0	0	1	1	4	1	2	4	4	3	0	4	4	3	0	rs533865105	byFrequency	TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr16:27372111C>T	ENST00000395762.2	+	10	1133	c.874C>T	c.(874-876)Cga>Tga	p.R292*	IL4R_ENST00000543915.2_Nonsense_Mutation_p.R292*|IL4R_ENST00000170630.2_Nonsense_Mutation_p.R292*|IL4R_ENST00000565915.1_3'UTR|IL4R_ENST00000380922.3_Nonsense_Mutation_p.R277*	NM_000418.3	NP_000409.1	P24394	IL4RA_HUMAN	interleukin 4 receptor	292					defense response to protozoan (GO:0042832)|immune response (GO:0006955)|interleukin-4-mediated signaling pathway (GO:0035771)|intracellular signal transduction (GO:0035556)|negative regulation of T-helper 1 cell differentiation (GO:0045626)|ovulation (GO:0030728)|positive regulation of chemokine secretion (GO:0090197)|positive regulation of macrophage activation (GO:0043032)|positive regulation of T-helper 2 cell differentiation (GO:0045630)|production of molecular mediator involved in inflammatory response (GO:0002532)|regulation of cell proliferation (GO:0042127)|response to estrogen (GO:0043627)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	interleukin-4 receptor activity (GO:0004913)|receptor signaling protein activity (GO:0005057)			breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	33						GAAGCGGTCCCGAGGCCAGGA	0.557																																						ENST00000395762.2																			0				breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	33						c.(874-876)Cga>Tga		interleukin 4 receptor							179	164	169					16																	27372111		2197	4300	6497	SO:0001587	stop_gained	3566				immune response|production of molecular mediator involved in inflammatory response	integral to plasma membrane	identical protein binding|interleukin-4 receptor activity|receptor signaling protein activity	g.chr16:27372111C>T	X52425	CCDS10629.1, CCDS58441.1	16p12.1-p11.2	2008-05-14			ENSG00000077238	ENSG00000077238		"Interleukins and interleukin receptors", "CD molecules"	6015	protein-coding gene	gene with protein product		147781				1679753	Standard	NM_000418		Approved	CD124	uc010bxy.4	P24394	OTTHUMG00000097015	ENST00000395762.2:c.874C>T	16.37:g.27372111C>T	ENSP00000379111:p.Arg292*					IL4R_ENST00000543915.2_Nonsense_Mutation_p.R292*|IL4R_ENST00000170630.2_Nonsense_Mutation_p.R292*|IL4R_ENST00000565915.1_3'UTR|IL4R_ENST00000380922.3_Nonsense_Mutation_p.R277*	p.R292*	NM_000418.3	NP_000409.1	P24394	IL4RA_HUMAN			10	1133	+			292					B4E076|B9EKU8|H3BSY5|Q96P01|Q9H181|Q9H182|Q9H183|Q9H184|Q9H185|Q9H186|Q9H187|Q9H188	Nonsense_Mutation	SNP	ENST00000395762.2	37	c.874C>T	CCDS10629.1	.	.	.	.	.	.	.	.	.	.	C	28.6	4.930157	0.92389	.	.	ENSG00000077238	ENST00000395762;ENST00000543915;ENST00000380922;ENST00000170630	.	.	.	3.46	2.49	0.30216	.	0.631198	0.14109	N	0.340849	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-21.7972	8.8118	0.34971	0.0:0.7691:0.2309:0.0	.	.	.	.	X	292;292;277;292	.	ENSP00000170630:R292X	R	+	1	2	IL4R	27279612	0.001000	0.12720	0.086000	0.20670	0.376000	0.30014	0.916000	0.28651	1.011000	0.39340	0.462000	0.41574	CGA		0.557	IL4R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214104.4			28	65	0	0	0	1	0	28	65					T	27372111	C	T	27372111	4	4	94	1	0	0	0	0	0	1	0	0	7698	644	23	2	922	2	IL4R	16	27372111	Nonsense_Mutation	SNP	C	TCGA-EJ-7782-01A-11D-2114-08	6318752	27372111	62982642	358	5177											
TGFB1I1	7041	broad.mit.edu	37	chr16	31485718	31485718	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	aaaggcttctgccacctcagCcactctggagctggatagac	10	8	10	13	0	3	1	1	0	2	1	3	3	3	3	3	3	3	2	3	3	2	2			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr16:31485718C>T	ENST00000394863.3	+	6	591	c.461C>T	c.(460-462)gCc>gTc	p.A154V	TGFB1I1_ENST00000361773.3_Missense_Mutation_p.A137V|TGFB1I1_ENST00000394858.2_Missense_Mutation_p.A137V|TGFB1I1_ENST00000567607.1_Missense_Mutation_p.A137V	NM_001042454.2	NP_001035919.1	O43294	TGFI1_HUMAN	transforming growth factor beta 1 induced transcript 1	154	Interaction with PTK2B/PYK2.|Transcription activation. {ECO:0000250}.				androgen receptor signaling pathway (GO:0030521)|cell adhesion (GO:0007155)|cell fate commitment (GO:0045165)|epithelial cell differentiation (GO:0030855)|morphogenesis of embryonic epithelium (GO:0016331)|negative regulation of cell proliferation (GO:0008285)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|response to heat (GO:0009408)|transcription from RNA polymerase II promoter (GO:0006366)|ubiquitin-dependent SMAD protein catabolic process (GO:0030579)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)|intracellular (GO:0005622)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|I-SMAD binding (GO:0070411)|Roundabout binding (GO:0048495)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			lung(8)|upper_aerodigestive_tract(1)	9						GCCACCTCAGCCACTCTGGAG	0.577																																						ENST00000394863.3																			0				lung(8)|upper_aerodigestive_tract(1)	9						c.(460-462)gCc>gTc		transforming growth factor beta 1 induced transcript 1							72	68	69					16																	31485718		2197	4300	6497	SO:0001583	missense	7041				androgen receptor signaling pathway|cell adhesion|negative regulation of cell proliferation|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|positive regulation of transforming growth factor beta receptor signaling pathway|transcription from RNA polymerase II promoter|ubiquitin-dependent SMAD protein catabolic process|Wnt receptor signaling pathway	cytoplasm|cytoskeleton|focal adhesion|nuclear matrix	androgen receptor binding|I-SMAD binding|Roundabout binding|transcription coactivator activity|zinc ion binding	g.chr16:31485718C>T	AB007836	CCDS10713.1, CCDS42156.1	16p11	2008-02-05			ENSG00000140682	ENSG00000140682			11767	protein-coding gene	gene with protein product		602353				9422762, 10075738	Standard	NM_015927		Approved	Hic-5, TSC-5, ARA55, HIC-5	uc002ecd.2	O43294	OTTHUMG00000132467	ENST00000394863.3:c.461C>T	16.37:g.31485718C>T	ENSP00000378332:p.Ala154Val					TGFB1I1_ENST00000394858.2_Missense_Mutation_p.A137V|TGFB1I1_ENST00000361773.3_Missense_Mutation_p.A137V|TGFB1I1_ENST00000567607.1_Missense_Mutation_p.A137V	p.A154V	NM_001042454.2	NP_001035919.1	O43294	TGFI1_HUMAN			6	591	+			154			Interaction with PTK2B.|Transcription activation (By similarity).		B2R8D5|Q9BPW3|Q9Y2V5	Missense_Mutation	SNP	ENST00000394863.3	37	c.461C>T	CCDS42156.1	.	.	.	.	.	.	.	.	.	.	C	32	5.161581	0.94727	.	.	ENSG00000140682	ENST00000394863;ENST00000361773;ENST00000394858	T;T;T	0.58797	0.31;0.32;0.32	5.23	5.23	0.72850	.	0.121563	0.53938	D	0.000044	T	0.77532	0.4144	M	0.82517	2.595	0.80722	D	1	D	0.71674	0.998	D	0.70935	0.971	T	0.81174	-0.1053	10	0.72032	D	0.01	.	16.3165	0.82930	0.0:1.0:0.0:0.0	.	154	O43294	TGFI1_HUMAN	V	154;137;137	ENSP00000378332:A154V;ENSP00000355117:A137V;ENSP00000378327:A137V	ENSP00000355117:A137V	A	+	2	0	TGFB1I1	31393219	1.000000	0.71417	0.965000	0.40720	0.857000	0.48899	6.662000	0.74426	2.430000	0.82344	0.655000	0.94253	GCC		0.577	TGFB1I1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255630.3			4	58	0	0	0	1	0	4	58					T	31485718	C	T	31485718	3	4	94	1	0	0	0	0	1	0	0	0	15814	739	26	3	483	3	TGFB1I1	16	31485718	Missense_Mutation	SNP	C	TCGA-EJ-7782-01A-11D-2114-08	4113607	31485718	58869035	359	5178											
ABCC11	85320	broad.mit.edu	37	chr16	48212570	48212570	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctctgtctccaagccaatccGggcagtggcctggaagctgg	7	8	13	13	1	2	0	0	0	2	0	4	1	3	1	4	4	2	2	4	4	3	0			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr16:48212570G>A	ENST00000394747.1	-	23	3635	c.3286C>T	c.(3286-3288)Cgg>Tgg	p.R1096W	ABCC11_ENST00000565329.1_5'UTR|ABCC11_ENST00000353782.5_Missense_Mutation_p.R1096W|ABCC11_ENST00000356608.2_Missense_Mutation_p.R1096W|ABCC11_ENST00000394748.1_Missense_Mutation_p.R1096W	NM_033151.3	NP_149163.2	Q96J66	ABCCB_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 11	1096	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.				organic anion transport (GO:0015711)|purine nucleotide transport (GO:0015865)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)|purine nucleotide transmembrane transporter activity (GO:0015216)			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2)	83		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)			Conjugated Estrogens(DB00286)|Folic Acid(DB00158)|Indomethacin(DB00328)|Methotrexate(DB00563)|Probenecid(DB01032)	AAGCCAATCCGGGCAGTGGCC	0.582																																						ENST00000394747.1																			0				breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2)	83						c.(3286-3288)Cgg>Tgg		ATP-binding cassette, sub-family C (CFTR/MRP), member 11							93	84	87					16																	48212570		2201	4300	6501	SO:0001583	missense	85320					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr16:48212570G>A	AF367202	CCDS10732.1, CCDS10733.1	16q12	2012-03-14			ENSG00000121270	ENSG00000121270		"ATP binding cassette transporters / subfamily C"	14639	protein-coding gene	gene with protein product		607040				11483364, 11435397	Standard	NM_033151		Approved	MRP8	uc002efg.1	Q96J66	OTTHUMG00000133146	ENST00000394747.1:c.3286C>T	16.37:g.48212570G>A	ENSP00000378230:p.Arg1096Trp					ABCC11_ENST00000356608.2_Missense_Mutation_p.R1096W|ABCC11_ENST00000394748.1_Missense_Mutation_p.R1096W|ABCC11_ENST00000565329.1_5'UTR|ABCC11_ENST00000353782.5_Missense_Mutation_p.R1096W	p.R1096W	NM_033151.3	NP_149163.2	Q96J66	ABCCB_HUMAN			23	3635	-		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)	1096			ABC transmembrane type-1 2.		Q8TDJ0|Q96JA6|Q9BX80	Missense_Mutation	SNP	ENST00000394747.1	37	c.3286C>T	CCDS10732.1	.	.	.	.	.	.	.	.	.	.	G	14.53	2.563248	0.45694	.	.	ENSG00000121270	ENST00000353782;ENST00000356608;ENST00000394748;ENST00000394747	D;D;D;D	0.94650	-3.48;-3.48;-3.48;-3.48	3.75	0.104	0.14531	ABC transporter, transmembrane domain, type 1 (1);	0.226724	0.33217	N	0.005149	D	0.96106	0.8731	M	0.86651	2.83	0.30857	N	0.733952	P;D	0.89917	0.877;1.0	B;D	0.87578	0.276;0.998	D	0.91419	0.5157	10	0.49607	T	0.09	-11.3576	3.8299	0.08870	0.128:0.0:0.4155:0.4565	.	1096;1096	Q96J66-2;Q96J66	.;ABCCB_HUMAN	W	1096	ENSP00000311326:R1096W;ENSP00000349017:R1096W;ENSP00000378231:R1096W;ENSP00000378230:R1096W	ENSP00000311326:R1096W	R	-	1	2	ABCC11	46770071	0.882000	0.30256	0.003000	0.11579	0.002000	0.02628	0.902000	0.28459	0.247000	0.21414	0.462000	0.41574	CGG		0.582	ABCC11-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000429984.1	NM_032583		5	55	0	0	0	1	0	5	55					A	48212570	G	A	48212570	3	1	94	1	0	0	0	0	1	0	0	0	51	1115	39	2	890	2	ABCC11	16	48212570	Missense_Mutation	SNP	G	TCGA-EJ-7782-01A-11D-2114-08	16726852	48212570	42142183	360	5179											
CDH5	1003	broad.mit.edu	37	chr16	66413286	66413286	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ccacatcgggcgcctgcctgGgcctgctggcagtggcagca	5	6	15	15	2	0	0	0	0	0	0	1	0	0	0	4	4	3	4	4	4	0	0			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr16:66413286G>A	ENST00000341529.3	+	2	194	c.46G>A	c.(46-48)Ggc>Agc	p.G16S	CDH5_ENST00000563425.2_Missense_Mutation_p.G16S	NM_001795.3	NP_001786.2	P33151	CADH5_HUMAN	cadherin 5, type 2 (vascular endothelium)	16					adherens junction organization (GO:0034332)|blood vessel maturation (GO:0001955)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|negative regulation of cell proliferation (GO:0008285)|regulation of establishment of cell polarity (GO:2000114)	cell junction (GO:0030054)|cell-cell junction (GO:0005911)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)|ion channel binding (GO:0044325)|receptor binding (GO:0005102)			central_nervous_system(1)|endometrium(3)|kidney(18)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	54		Ovarian(137;0.0955)		OV - Ovarian serous cystadenocarcinoma(108;0.107)	Lenalidomide(DB00480)	CGCCTGCCTGGGCCTGCTGGC	0.627																																						ENST00000341529.3																			0				central_nervous_system(1)|endometrium(3)|kidney(18)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	54						c.(46-48)Ggc>Agc		cadherin 5, type 2 (vascular endothelium)							64	70	68					16																	66413286		2202	4300	6502	SO:0001583	missense	1003				adherens junction organization|cell junction assembly|homophilic cell adhesion|regulation of establishment of cell polarity	integral to membrane|membrane fraction	beta-catenin binding|calcium ion binding|ion channel binding|receptor binding	g.chr16:66413286G>A	X79981	CCDS10804.1	16q22.1	2010-01-26	2008-07-25		ENSG00000179776	ENSG00000179776		"CD molecules", "Cadherins / Major cadherins"	1764	protein-coding gene	gene with protein product	"VE-cadherin"	601120	"cadherin 5, type 2, VE-cadherin (vascular epithelium)"			2059658	Standard	NM_001795		Approved	7B4, CD144	uc002eom.4	P33151	OTTHUMG00000137495	ENST00000341529.3:c.46G>A	16.37:g.66413286G>A	ENSP00000344115:p.Gly16Ser					CDH5_ENST00000563425.2_Missense_Mutation_p.G16S	p.G16S	NM_001795.3	NP_001786.2	P33151	CADH5_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.107)	2	194	+		Ovarian(137;0.0955)	16					Q4VAI5|Q4VAI6	Missense_Mutation	SNP	ENST00000341529.3	37	c.46G>A	CCDS10804.1	.	.	.	.	.	.	.	.	.	.	G	24.1	4.492816	0.84962	.	.	ENSG00000179776	ENST00000341529;ENST00000379531	T	0.55234	0.53	4.28	-1.71	0.08133	.	.	.	.	.	T	0.36496	0.0969	N	0.08118	0	0.21325	N	0.999722	D	0.61080	0.989	P	0.55615	0.78	T	0.22417	-1.0217	9	0.30854	T	0.27	.	3.372	0.07224	0.4633:0.0:0.3488:0.1879	.	16	P33151	CADH5_HUMAN	S	16	ENSP00000344115:G16S	ENSP00000344115:G16S	G	+	1	0	CDH5	64970787	0.106000	0.21978	0.615000	0.29064	0.807000	0.45602	0.651000	0.24873	-0.133000	0.11537	0.462000	0.41574	GGC		0.627	CDH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268767.1	NM_001795		23	59	0	0	0	1	0	23	59					A	66413286	G	A	66413286	3	1	94	1	0	0	0	0	1	0	0	0	3113	1232	43	3	48	3	CDH5	16	66413286	Missense_Mutation	SNP	G	TCGA-EJ-7782-01A-11D-2114-08	18200716	66413286	23941467	361	5180											
CMTM1	113540	broad.mit.edu	37	chr16	66600560	66600560	+	Intron	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcaacatctcagcgaagacCgcaccccggaagcaccccgc	11	2	9	19	5	1	1	1	0	1	1	2	3	1	2	5	1	3	3	5	1	3	0			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr16:66600560C>T	ENST00000457188.2	+	1	202				CMTM1_ENST00000379500.2_Silent_p.T48T|CMTM1_ENST00000328020.6_Silent_p.T48T|CMTM1_ENST00000529506.1_Intron|CKLF-CMTM1_ENST00000527729.1_Intron|CMTM1_ENST00000336328.6_Intron|CMTM1_ENST00000531885.1_Intron|CMTM1_ENST00000535705.1_Intron|CMTM1_ENST00000533953.1_Silent_p.T48T|CMTM1_ENST00000332695.7_Intron|CMTM1_ENST00000533666.1_Intron|CMTM1_ENST00000528324.1_Intron	NM_181269.2	NP_851786.1	Q8IZ96	CKLF1_HUMAN	CKLF-like MARVEL transmembrane domain containing 1						chemotaxis (GO:0006935)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)	7		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0702)|Epithelial(162;0.222)		CAGCGAAGACCGCACCCCGGA	0.632																																						ENST00000379500.2																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)	7						c.(142-144)acC>acT		CKLF-like MARVEL transmembrane domain containing 1							69	77	74					16																	66600560		2201	4300	6501	SO:0001627	intron_variant	113540				chemotaxis	extracellular space|integral to membrane	cytokine activity	g.chr16:66600560C>T	AF278577	CCDS10810.1, CCDS10811.1, CCDS10812.2, CCDS45503.1, CCDS45504.1, CCDS54019.1, CCDS54020.1, CCDS54021.1	16q22.1	2009-10-06	2005-11-08	2005-11-08	ENSG00000089505	ENSG00000089505			19172	protein-coding gene	gene with protein product		607884	"chemokine-like factor super family 1", "chemokine-like factor superfamily 1"	CKLFSF1		12782130	Standard	NM_181268		Approved	CKLFH1a, CKLFH	uc002epr.4	Q8IZ96	OTTHUMG00000137502	ENST00000457188.2:c.81+63C>T	16.37:g.66600560C>T						CMTM1_ENST00000535705.1_Intron|CKLF-CMTM1_ENST00000527729.1_Intron|CMTM1_ENST00000533953.1_Silent_p.T48T|CMTM1_ENST00000533666.1_Intron|CMTM1_ENST00000457188.2_Intron|CMTM1_ENST00000528324.1_Intron|CMTM1_ENST00000531885.1_Intron|CMTM1_ENST00000336328.6_Intron|CMTM1_ENST00000332695.7_Intron|CMTM1_ENST00000328020.6_Silent_p.T48T	p.T48T	NM_052999.3|NM_181268.2	NP_443725.3|NP_851785.2	Q8IZ96	CKLF1_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0702)|Epithelial(162;0.222)	1	211	+		Ovarian(137;0.0563)	0			MARVEL.		Q2PPY5|Q6PEV5|Q8IU76|Q8IU83|Q8IU86|Q8IU93|Q8IZ87|Q8IZ88|Q8IZ89|Q8IZ90|Q8IZ91|Q8IZ92|Q8IZ93|Q8IZ94|Q8IZ95|Q96JC2|Q96JC3	Silent	SNP	ENST00000457188.2	37	c.144C>T	CCDS45503.1																																																																																				0.632	CMTM1-015	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000390261.2	NM_052999		5	55	0	0	0	1	0	5	55					T	66600560	C	T	66600560	1	4	94	0	1	0	0	0	0	0	0	0	3582	639	23	2		2	CMTM1	16	66600560	Intron	SNP	C	TCGA-EJ-7782-01A-11D-2114-08	187274	66600560	23754193	362	5181											
FHOD1	29109	broad.mit.edu	37	chr16	67264379	67264379	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcacgggccgcctgcggggtGtagcccaggtagagcaggaa	8	5	17	11	3	1	1	1	0	0	1	1	2	1	2	3	5	3	3	3	5	3	2			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr16:67264379G>A	ENST00000258201.4	-	19	3136	c.2889C>T	c.(2887-2889)taC>taT	p.Y963Y		NM_013241.2	NP_037373.2	Q9Y613	FHOD1_HUMAN	formin homology 2 domain containing 1	963	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.				positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|membrane (GO:0016020)|nucleus (GO:0005634)	identical protein binding (GO:0042802)			breast(4)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	34		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.000691)|Epithelial(162;0.00462)|all cancers(182;0.0434)		CCTGCGGGGTGTAGCCCAGGT	0.602																																						ENST00000258201.4																			0				breast(4)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	34						c.(2887-2889)taC>taT		formin homology 2 domain containing 1							81	84	83					16																	67264379		2198	4300	6498	SO:0001819	synonymous_variant	29109				actin cytoskeleton organization	cytoplasm|cytoskeleton|nucleus	actin binding	g.chr16:67264379G>A	AF113615	CCDS10834.1	16q22	2008-02-22			ENSG00000135723	ENSG00000135723			17905	protein-coding gene	gene with protein product		606881				10352228, 16112087	Standard	NM_013241		Approved	FHOS	uc002esl.3	Q9Y613	OTTHUMG00000137521	ENST00000258201.4:c.2889C>T	16.37:g.67264379G>A						FHOD1_ENST00000567687.1_Silent_p.Y542Y	p.Y963Y	NM_013241.2	NP_037373.2	Q9Y613	FHOD1_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.000691)|Epithelial(162;0.00462)|all cancers(182;0.0434)	19	3136	-		Ovarian(137;0.0563)	963			FH2.		Q59F76|Q6Y1F2|Q76MS8|Q8N521	Silent	SNP	ENST00000258201.4	37	c.2889C>T	CCDS10834.1																																																																																				0.602	FHOD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268844.2			13	79	0	0	0	1	0	13	79					A	67264379	G	A	67264379	2	1	94	1	0	0	0	0	0	0	0	1	5882	1372	48	3		3	FHOD1	16	67264379	Silent	SNP	G	TCGA-EJ-7782-01A-11D-2114-08	663819	67264379	23090374	363	5182											
SLC9A5	6553	broad.mit.edu	37	chr16	67300093	67300093	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gatcatctttgtggctcgtgCcaccagtgaggttctccaag	7	12	11	11	1	3	1	1	1	2	0	5	2	3	1	3	2	1	2	3	2	1	2			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr16:67300093C>T	ENST00000299798.11	+	15	2248	c.2183C>T	c.(2182-2184)gCc>gTc	p.A728V	CTC-277H1.7_ENST00000573063.1_RNA	NM_004594.2	NP_004585.1	Q14940	SL9A5_HUMAN	solute carrier family 9, subfamily A (NHE5, cation proton antiporter 5), member 5	728					ion transport (GO:0006811)|regulation of pH (GO:0006885)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium:proton antiporter activity (GO:0015385)			breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	27		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)		GTGGCTCGTGCCACCAGTGAG	0.557																																						ENST00000299798.11																			0				breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	27						c.(2182-2184)gCc>gTc		solute carrier family 9, subfamily A (NHE5, cation proton antiporter 5), member 5							84	98	93					16																	67300093		2064	4191	6255	SO:0001583	missense	6553				regulation of pH	integral to membrane|plasma membrane	sodium:hydrogen antiporter activity	g.chr16:67300093C>T		CCDS42178.1	16q22.1	2013-05-22	2012-03-22		ENSG00000135740	ENSG00000135740		"Solute carriers"	11078	protein-coding gene	gene with protein product		600477	"solute carrier family 9 (sodium/hydrogen exchanger), isoform 5", "solute carrier family 9 (sodium/hydrogen exchanger), member 5"			7759094, 9933642	Standard	NM_004594		Approved	NHE5	uc002esm.3	Q14940	OTTHUMG00000172935	ENST00000299798.11:c.2183C>T	16.37:g.67300093C>T	ENSP00000299798:p.Ala728Val						p.A728V	NM_004594.2	NP_004585.1	Q14940	SL9A5_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)	15	2248	+		Ovarian(137;0.0563)	728					A5PKY7|Q9Y626	Missense_Mutation	SNP	ENST00000299798.11	37	c.2183C>T	CCDS42178.1	.	.	.	.	.	.	.	.	.	.	C	13.83	2.353085	0.41700	.	.	ENSG00000135740	ENST00000299798;ENST00000360183	T	0.56103	0.48	4.79	4.79	0.61399	.	0.636367	0.14804	N	0.297478	T	0.59676	0.2211	L	0.29908	0.895	0.34026	D	0.653214	D;P	0.71674	0.998;0.808	D;B	0.65684	0.937;0.227	T	0.61950	-0.6957	10	0.21014	T	0.42	.	16.8029	0.85618	0.0:1.0:0.0:0.0	.	241;728	F8WDV9;Q14940	.;SL9A5_HUMAN	V	728;241	ENSP00000299798:A728V	ENSP00000299798:A728V	A	+	2	0	SLC9A5	65857594	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	5.617000	0.67716	2.201000	0.70794	0.563000	0.77884	GCC		0.557	SLC9A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421386.1			7	14	0	0	0	1	0	7	14					T	67300093	C	T	67300093	3	4	94	1	0	0	0	0	1	0	0	0	14717	739	26	3	2241	3	SLC9A5	16	67300093	Missense_Mutation	SNP	C	TCGA-EJ-7782-01A-11D-2114-08	35714	67300093	23054660	364	5183											
PLEKHG4	25894	broad.mit.edu	37	chr16	67319227	67319227	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tggcagagatggtggccacgGagcgggagtatgtccgggct	7	7	19	8	3	0	1	0	0	0	1	1	4	1	3	2	6	1	3	2	6	1	1			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr16:67319227G>A	ENST00000360461.5	+	13	4765	c.2230G>A	c.(2230-2232)Gag>Aag	p.E744K	PLEKHG4_ENST00000450733.1_Missense_Mutation_p.E663K|PLEKHG4_ENST00000379344.3_Missense_Mutation_p.E744K|PLEKHG4_ENST00000427155.2_Missense_Mutation_p.E744K	NM_001129727.1|NM_015432.3	NP_001123199.1|NP_056247.1	Q58EX7	PKHG4_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 4	744	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.						Rho guanyl-nucleotide exchange factor activity (GO:0005089)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37				OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)|Kidney(780;0.119)		GGTGGCCACGGAGCGGGAGTA	0.622																																						ENST00000360461.5																			0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						c.(2230-2232)Gag>Aag		pleckstrin homology domain containing, family G (with RhoGef domain) member 4							65	65	65					16																	67319227		2198	4300	6498	SO:0001583	missense	25894				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	g.chr16:67319227G>A	AK024475	CCDS32466.1, CCDS45512.1	16q22.1	2013-01-11						"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	24501	protein-coding gene	gene with protein product	"puratrophin-1"	609526	"spinocerebellar ataxia 4"	SCA4		16491300, 16001362	Standard	NM_015432		Approved	DKFZP434I216, ARHGEF44	uc010cef.3	Q58EX7		ENST00000360461.5:c.2230G>A	16.37:g.67319227G>A	ENSP00000353646:p.Glu744Lys					PLEKHG4_ENST00000379344.3_Missense_Mutation_p.E744K|PLEKHG4_ENST00000450733.1_Missense_Mutation_p.E663K|PLEKHG4_ENST00000427155.2_Missense_Mutation_p.E744K	p.E744K	NM_001129727.1|NM_015432.3	NP_001123199.1|NP_056247.1	Q58EX7	PKHG4_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)|Kidney(780;0.119)	13	4765	+			744			DH.		Q4G0J8|Q4H485|Q56A69|Q9H7K4|Q9UFW0	Missense_Mutation	SNP	ENST00000360461.5	37	c.2230G>A	CCDS32466.1	.	.	.	.	.	.	.	.	.	.	G	36	5.601918	0.96614	.	.	ENSG00000196155	ENST00000360461;ENST00000427155;ENST00000379344;ENST00000450733	D;D;D;D	0.96459	-4.02;-4.02;-4.02;-4.02	4.7	4.7	0.59300	Dbl homology (DH) domain (5);	0.000000	0.33772	N	0.004561	D	0.99032	0.9669	H	0.99286	4.5	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.87578	0.998;0.995	D	0.99069	1.0833	10	0.87932	D	0	.	16.6264	0.84971	0.0:0.0:1.0:0.0	.	663;744	Q58EX7-2;Q58EX7	.;PKHG4_HUMAN	K	744;744;744;663	ENSP00000353646:E744K;ENSP00000401118:E744K;ENSP00000368649:E744K;ENSP00000398030:E663K	ENSP00000353646:E744K	E	+	1	0	PLEKHG4	65876728	1.000000	0.71417	0.931000	0.37212	0.766000	0.43426	9.809000	0.99208	2.178000	0.69098	0.561000	0.74099	GAG		0.622	PLEKHG4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421395.2	NM_015432		22	28	0	0	0	1	0	22	28					A	67319227	G	A	67319227	3	1	94	1	0	0	0	0	1	0	0	0	12071	1175	41	3	2280	3	PLEKHG4	16	67319227	Missense_Mutation	SNP	G	TCGA-EJ-7782-01A-11D-2114-08	19134	67319227	23035526	365	5184											
CENPT	80152	broad.mit.edu	37	chr16	67865241	67865241	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	actgtggctgaagaggtgtgGcaaaggtcaggttgagggat	10	9	18	4	0	1	3	1	2	0	1	1	4	1	4	0	6	0	3	0	6	2	1			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr16:67865241G>A	ENST00000562787.1	-	10	1129	c.581C>T	c.(580-582)gCc>gTc	p.A194V	CENPT_ENST00000219172.3_Missense_Mutation_p.A194V|CENPT_ENST00000564817.1_Missense_Mutation_p.A194V|CENPT_ENST00000445712.2_Missense_Mutation_p.A91V|CENPT_ENST00000440851.2_Missense_Mutation_p.A194V|CENPT_ENST00000562947.1_5'UTR	NM_025082.3	NP_079358.3	Q96BT3	CENPT_HUMAN	centromere protein T	194	Flexible stalk domain. {ECO:0000250}.				chromosome organization (GO:0051276)|chromosome segregation (GO:0007059)|kinetochore assembly (GO:0051382)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|breast(2)|lung(6)|urinary_tract(1)	10		Acute lymphoblastic leukemia(13;0.000299)|all_hematologic(13;0.0184)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00429)|Epithelial(162;0.019)|all cancers(182;0.124)		AAGAGGTGTGGCAAAGGTCAG	0.617																																						ENST00000562787.1																			0				NS(1)|breast(2)|lung(6)|urinary_tract(1)	10						c.(580-582)gCc>gTc		centromere protein T							50	58	55					16																	67865241		2026	4186	6212	SO:0001583	missense	80152				mitotic prometaphase	condensed chromosome kinetochore|cytosol|nucleus	DNA binding	g.chr16:67865241G>A	AK056097	CCDS42182.1	16q22.1	2013-11-05	2006-06-15	2006-06-15		ENSG00000102901			25787	protein-coding gene	gene with protein product		611510	"chromosome 16 open reading frame 56"	C16orf56		16622420, 16622419	Standard	NM_025082		Approved	FLJ13111, CENP-T	uc002eun.4	Q96BT3		ENST00000562787.1:c.581C>T	16.37:g.67865241G>A	ENSP00000457810:p.Ala194Val					CENPT_ENST00000445712.2_Missense_Mutation_p.A91V|CENPT_ENST00000564817.1_Missense_Mutation_p.A194V|CENPT_ENST00000440851.2_Missense_Mutation_p.A194V|CENPT_ENST00000562947.1_5'UTR|CENPT_ENST00000219172.3_Missense_Mutation_p.A194V	p.A194V	NM_025082.3	NP_079358.3	Q96BT3	CENPT_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00429)|Epithelial(162;0.019)|all cancers(182;0.124)	10	1129	-		Acute lymphoblastic leukemia(13;0.000299)|all_hematologic(13;0.0184)|Ovarian(137;0.0563)	194					Q96I29|Q96IC6|Q96NK9|Q9H901	Missense_Mutation	SNP	ENST00000562787.1	37	c.581C>T	CCDS42182.1	.	.	.	.	.	.	.	.	.	.	G	18.83	3.707568	0.68615	.	.	ENSG00000102901	ENST00000440851;ENST00000219172;ENST00000445712	T;T;T	0.49720	0.87;0.87;0.77	5.36	3.36	0.38483	.	0.449691	0.21054	N	0.080951	T	0.33933	0.0880	L	0.46741	1.465	0.21020	N	0.999801	B;B;B	0.30146	0.154;0.27;0.154	B;B;B	0.32533	0.048;0.147;0.048	T	0.28870	-1.0030	10	0.02654	T	1	-3.2044	8.0515	0.30581	0.1966:0.0:0.8034:0.0	.	91;194;194	B4DMP9;Q96BT3;B3KPB2	.;CENPT_HUMAN;.	V	194;194;91	ENSP00000400140:A194V;ENSP00000219172:A194V;ENSP00000411594:A91V	ENSP00000219172:A194V	A	-	2	0	CENPT	66422742	0.815000	0.29118	0.990000	0.47175	0.995000	0.86356	1.992000	0.40737	1.256000	0.44068	0.644000	0.83932	GCC		0.617	CENPT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422020.1	NM_025082		17	28	0	0	0	1	0	17	28					A	67865241	G	A	67865241	3	1	94	1	0	0	0	0	1	0	0	0	3242	1203	42	3	1132	3	CENPT	16	67865241	Missense_Mutation	SNP	G	TCGA-EJ-7782-01A-11D-2114-08	546014	67865241	22489512	366	5185											
CDH1	999	broad.mit.edu	37	chr16	68844157	68844157	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttgaggatccaatggagattTtgatcacggtaaccgatcag	12	11	11	7	2	2	3	2	2	0	1	3	6	3	4	2	3	1	1	2	3	2	4			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr16:68844157T>G	ENST00000261769.5	+	6	936	c.745T>G	c.(745-747)Ttg>Gtg	p.L249V	CDH1_ENST00000562836.1_3'UTR|CDH1_ENST00000422392.2_Missense_Mutation_p.L249V	NM_004360.3	NP_004351.1	P12830	CADH1_HUMAN	cadherin 1, type 1, E-cadherin (epithelial)	249	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|apoptotic process (GO:0006915)|calcium-dependent cell-cell adhesion (GO:0016339)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to amino acid stimulus (GO:0071230)|cellular response to indole-3-methanol (GO:0071681)|cellular response to lithium ion (GO:0071285)|cochlea development (GO:0090102)|epithelial cell morphogenesis (GO:0003382)|establishment of protein localization to plasma membrane (GO:0090002)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|homophilic cell adhesion (GO:0007156)|intestinal epithelial cell development (GO:0060576)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of epithelial cell proliferation (GO:0050680)|neuron projection development (GO:0031175)|pituitary gland development (GO:0021983)|positive regulation of transcription factor import into nucleus (GO:0042993)|positive regulation of transcription, DNA-templated (GO:0045893)|protein homooligomerization (GO:0051260)|protein localization to plasma membrane (GO:0072659)|protein metabolic process (GO:0019538)|regulation of branching involved in salivary gland morphogenesis (GO:0060693)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of immune response (GO:0050776)|regulation of neuron migration (GO:2001222)|regulation of protein localization to cell surface (GO:2000008)|regulation of water loss via skin (GO:0033561)|response to drug (GO:0042493)|response to toxic substance (GO:0009636)|salivary gland cavitation (GO:0060662)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|synapse assembly (GO:0007416)|tight junction assembly (GO:0070830)|trophectodermal cell differentiation (GO:0001829)	actin cytoskeleton (GO:0015629)|aggresome (GO:0016235)|apical junction complex (GO:0043296)|apical part of cell (GO:0045177)|axon terminus (GO:0043679)|basolateral plasma membrane (GO:0016323)|catenin complex (GO:0016342)|cell junction (GO:0030054)|cell surface (GO:0009986)|cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|endosome (GO:0005768)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|lateral loop (GO:0043219)|lateral plasma membrane (GO:0016328)|node of Ranvier (GO:0033268)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|Schmidt-Lanterman incisure (GO:0043220)|trans-Golgi network (GO:0005802)	ankyrin binding (GO:0030506)|beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)|cell adhesion molecule binding (GO:0050839)|gamma-catenin binding (GO:0045295)|glycoprotein binding (GO:0001948)|GTPase activating protein binding (GO:0032794)	p.?(4)		NS(6)|biliary_tract(8)|breast(161)|central_nervous_system(4)|endometrium(9)|kidney(4)|large_intestine(13)|lung(13)|oesophagus(3)|ovary(2)|prostate(3)|soft_tissue(2)|stomach(76)|thyroid(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	311		all_neural(199;0.0189)|Ovarian(137;0.0563)		Epithelial(162;8.44e-05)|all cancers(182;0.000404)|OV - Ovarian serous cystadenocarcinoma(108;0.000426)|BRCA - Breast invasive adenocarcinoma(181;0.0261)		AATGGAGATTTTGATCACGGT	0.483			"Mis, N, F, S"		"lobular breast, gastric"	gastric			Hereditary Diffuse Gastric Cancer																													ENST00000261769.5			yes	Rec	yes	Familial gastric carcinoma	16	16q22.1	999	"Mis, N, F, S"	"cadherin 1, type 1, E-cadherin (epithelial) (ECAD)"			E		gastric	"lobular breast, gastric"		4	Unknown(4)	p.?(4)	breast(4)	NS(6)|biliary_tract(8)|breast(161)|central_nervous_system(4)|endometrium(9)|kidney(4)|large_intestine(13)|lung(13)|oesophagus(3)|ovary(2)|prostate(3)|soft_tissue(2)|stomach(76)|thyroid(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	311						c.(745-747)Ttg>Gtg		cadherin 1, type 1, E-cadherin (epithelial)							159	147	151					16																	68844157		2198	4300	6498	SO:0001583	missense	999	Hereditary Diffuse Gastric Cancer	Familial Cancer Database	HDGC	adherens junction organization|cellular component disassembly involved in apoptosis|cellular response to indole-3-methanol|cellular response to lithium ion|homophilic cell adhesion|negative regulation of cell-cell adhesion|positive regulation of transcription factor import into nucleus|positive regulation of transcription, DNA-dependent|regulation of immune response	actin cytoskeleton|aggresome|apical junction complex|catenin complex|cell-cell adherens junction|endosome|focal adhesion|Golgi apparatus|integral to membrane|internal side of plasma membrane|lateral plasma membrane|perinuclear region of cytoplasm	cell adhesion molecule binding|gamma-catenin binding	g.chr16:68844157T>G	L08599	CCDS10869.1	16q22.1	2014-09-17			ENSG00000039068	ENSG00000039068		"CD molecules", "Cadherins / Major cadherins"	1748	protein-coding gene	gene with protein product	"E-Cadherin"	192090		UVO		9925936	Standard	NM_004360		Approved	uvomorulin, CD324	uc002ewg.1	P12830	OTTHUMG00000137561	ENST00000261769.5:c.745T>G	16.37:g.68844157T>G	ENSP00000261769:p.Leu249Val					CDH1_ENST00000422392.2_Missense_Mutation_p.L249V|CDH1_ENST00000562836.1_3'UTR	p.L249V	NM_004360.3	NP_004351.1	P12830	CADH1_HUMAN		Epithelial(162;8.44e-05)|all cancers(182;0.000404)|OV - Ovarian serous cystadenocarcinoma(108;0.000426)|BRCA - Breast invasive adenocarcinoma(181;0.0261)	6	936	+		all_neural(199;0.0189)|Ovarian(137;0.0563)	249			Cadherin 1.		A8K1U7|Q13799|Q14216|Q15855|Q16194|Q4PJ14|Q9UII8	Missense_Mutation	SNP	ENST00000261769.5	37	c.745T>G	CCDS10869.1	.	.	.	.	.	.	.	.	.	.	T	0.121	-1.125193	0.01770	.	.	ENSG00000039068	ENST00000261769;ENST00000379120;ENST00000268794;ENST00000422392	T;T	0.50548	0.74;0.74	5.22	4.26	0.50523	Cadherin (4);Cadherin-like (1);	0.154245	0.29775	N	0.011240	T	0.14442	0.0349	N	0.00996	-1.065	0.23391	N	0.997778	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.22277	-1.0221	10	0.10377	T	0.69	.	4.5883	0.12294	0.0825:0.1508:0.6046:0.1621	.	249;249	Q9UII8;P12830	.;CADH1_HUMAN	V	249	ENSP00000261769:L249V;ENSP00000414946:L249V	ENSP00000261769:L249V	L	+	1	2	CDH1	67401658	0.939000	0.31865	0.963000	0.40424	0.402000	0.30811	1.695000	0.37763	1.319000	0.45190	-0.294000	0.09567	TTG		0.483	CDH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268897.2	NM_004360		38	82	0	0	0	1	0	38	82					G	68844157	T	G	68844157	3	3	94	1	0	0	0	0	1	0	0	0	3095	1838	64	5	767	5	CDH1	16	68844157	Missense_Mutation	SNP	T	TCGA-EJ-7782-01A-11D-2114-08	978916	68844157	21510596	367	5186											
TERF2	7014	broad.mit.edu	37	chr16	69400909	69400909	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcaccgtcagccggggctgAactttcgttttcatcttttc	5	15	8	13	3	4	1	3	1	1	0	6	1	4	1	2	2	2	2	2	2	1	5			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr16:69400909A>G	ENST00000254942.3	-	7	1157	c.1141T>C	c.(1141-1143)Tca>Cca	p.S381P	TERF2_ENST00000603068.1_Missense_Mutation_p.S339P|TERF2_ENST00000569611.2_5'Flank	NM_005652.3	NP_005643.2	Q15554	TERF2_HUMAN	telomeric repeat binding factor 2	381					age-dependent telomere shortening (GO:0001309)|cell cycle (GO:0007049)|cellular senescence (GO:0090398)|in utero embryonic development (GO:0001701)|negative regulation of telomere maintenance (GO:0032205)|negative regulation of telomere maintenance via semi-conservative replication (GO:0032214)|positive regulation of telomere maintenance (GO:0032206)|protection from non-homologous end joining at telomere (GO:0031848)|protein localization to chromosome, telomeric region (GO:0070198)|telomere capping (GO:0016233)|telomere maintenance (GO:0000723)|telomere maintenance via telomerase (GO:0007004)|telomere maintenance via telomere shortening (GO:0010834)|telomeric loop formation (GO:0031627)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|male germ cell nucleus (GO:0001673)|nuclear telomere cap complex (GO:0000783)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|double-stranded telomeric DNA binding (GO:0003691)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)|telomeric DNA binding (GO:0042162)			NS(2)|breast(1)|large_intestine(3)|lung(1)	7		Ovarian(137;0.101)				GCCGGGGCTGAACTTTCGTTT	0.517																																					Ovarian(13;63 524 30420 31710 34037)	ENST00000254942.3																			0				NS(2)|breast(1)|large_intestine(3)|lung(1)	7						c.(1141-1143)Tca>Cca		telomeric repeat binding factor 2							88	86	87					16																	69400909		2198	4300	6498	SO:0001583	missense	7014				age-dependent telomere shortening|cell cycle|cellular senescence|negative regulation of telomere maintenance via semi-conservative replication|protection from non-homologous end joining at telomere|protein localization to chromosome, telomeric region|regulation of transcription, DNA-dependent|telomeric loop formation	Golgi apparatus|nuclear telomere cap complex|nucleoplasm	double-stranded telomeric DNA binding|protein C-terminus binding|protein homodimerization activity	g.chr16:69400909A>G		CCDS10879.1, CCDS10879.2	16q22.1	2008-02-05			ENSG00000132604	ENSG00000132604			11729	protein-coding gene	gene with protein product		602027		TRBF2		9326950, 10226653	Standard	NM_005652		Approved	TRF2	uc002exd.4	Q15554	OTTHUMG00000137566	ENST00000254942.3:c.1141T>C	16.37:g.69400909A>G	ENSP00000254942:p.Ser381Pro					TERF2_ENST00000603068.1_Missense_Mutation_p.S339P	p.S381P	NM_005652.3	NP_005643.2	Q15554	TERF2_HUMAN			7	1157	-		Ovarian(137;0.101)	339						Missense_Mutation	SNP	ENST00000254942.3	37	c.1141T>C		.	.	.	.	.	.	.	.	.	.	A	18.81	3.704116	0.68615	.	.	ENSG00000132604	ENST00000254942	.	.	.	6.07	4.96	0.65561	.	0.825204	0.11196	N	0.589354	T	0.56470	0.1987	L	0.46157	1.445	0.80722	D	1	D	0.55800	0.973	P	0.51582	0.674	T	0.46105	-0.9215	9	0.45353	T	0.12	-7.3134	10.5995	0.45358	0.8394:0.1606:0.0:0.0	.	339	Q15554	TERF2_HUMAN	P	339	.	ENSP00000254942:S339P	S	-	1	0	TERF2	67958410	0.756000	0.28383	0.994000	0.49952	0.851000	0.48451	0.812000	0.27211	1.080000	0.41073	0.533000	0.62120	TCA		0.517	TERF2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000268944.2			19	31	0	0	0	1	0	19	31					G	69400909	A	G	69400909	3	3	94	1	0	0	0	0	1	0	0	0	15759	246	9	4	503	4	TERF2	16	69400909	Missense_Mutation	SNP	A	TCGA-EJ-7782-01A-11D-2114-08	556752	69400909	20953844	368	5187											
VAC14	55697	broad.mit.edu	37	chr16	70820236	70820236	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tcacatgcttgatttgcacgGtattgttctgggccacgaac	8	13	10	10	2	2	1	1	1	1	0	2	2	2	1	1	2	3	4	1	2	2	5			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr16:70820236G>A	ENST00000261776.5	-	2	397	c.137C>T	c.(136-138)aCc>aTc	p.T46I		NM_018052.3	NP_060522.3	Q08AM6	VAC14_HUMAN	Vac14 homolog (S. cerevisiae)	46					phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|regulation of lipid kinase activity (GO:0043550)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|late endosome membrane (GO:0031902)|PAS complex (GO:0070772)	receptor activity (GO:0004872)			breast(2)|endometrium(2)|kidney(10)|large_intestine(1)|lung(10)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	33		Ovarian(137;0.0699)				GATTTGCACGGTATTGTTCTG	0.642																																						ENST00000261776.5																			0				breast(2)|endometrium(2)|kidney(10)|large_intestine(1)|lung(10)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	33						c.(136-138)aCc>aTc		Vac14 homolog (S. cerevisiae)							96	94	95					16																	70820236		2198	4300	6498	SO:0001583	missense	55697				interspecies interaction between organisms	endoplasmic reticulum|endosome membrane|microsome	protein binding|receptor activity	g.chr16:70820236G>A	AK056433	CCDS10896.1	16q22.1	2010-03-23	2005-02-09		ENSG00000103043	ENSG00000103043			25507	protein-coding gene	gene with protein product		604632	"Tax1 (human T-cell leukemia virus type I) binding protein 2"	TAX1BP2		15542851, 12719380	Standard	NM_018052		Approved	FLJ10305, ArPIKfyve	uc002ezm.3	Q08AM6	OTTHUMG00000137583	ENST00000261776.5:c.137C>T	16.37:g.70820236G>A	ENSP00000261776:p.Thr46Ile						p.T46I	NM_018052.3	NP_060522.3	Q08AM6	VAC14_HUMAN			2	397	-		Ovarian(137;0.0699)	46					B3KPJ5|B3KSM8|Q13174|Q6IA12|Q7L4Y1|Q9BW96|Q9H6V6	Missense_Mutation	SNP	ENST00000261776.5	37	c.137C>T	CCDS10896.1	.	.	.	.	.	.	.	.	.	.	G	15.87	2.960918	0.53400	.	.	ENSG00000103043	ENST00000261776	T	0.66638	-0.22	5.49	5.49	0.81192	Armadillo-like helical (1);Armadillo-type fold (1);	0.164249	0.56097	D	0.000040	T	0.60483	0.2272	L	0.45581	1.43	0.80722	D	1	B	0.31054	0.306	B	0.26969	0.075	T	0.56811	-0.7917	10	0.21014	T	0.42	-12.788	19.3733	0.94498	0.0:0.0:1.0:0.0	.	46	Q08AM6	VAC14_HUMAN	I	46	ENSP00000261776:T46I	ENSP00000261776:T46I	T	-	2	0	VAC14	69377737	1.000000	0.71417	0.878000	0.34440	0.972000	0.66771	9.799000	0.99117	2.579000	0.87056	0.650000	0.86243	ACC		0.642	VAC14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268973.3	NM_018052		14	34	0	0	0	1	0	14	34					A	70820236	G	A	70820236	3	1	94	1	0	0	0	0	1	0	0	0	17108	1261	44	3	2283	3	VAC14	16	70820236	Missense_Mutation	SNP	G	TCGA-EJ-7782-01A-11D-2114-08	1419327	70820236	19534517	369	5188											
HYDIN	54768	broad.mit.edu	37	chr16	70934964	70934964	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtgggctgaaagtacaggtgCaggccgtactcagcctcagg	9	7	15	10	1	2	1	2	1	0	0	2	1	2	1	2	4	4	4	2	4	3	2			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr16:70934964C>T	ENST00000393567.2	-	53	9141	c.8991G>A	c.(8989-8991)ctG>ctA	p.L2997L		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	2997					cilium assembly (GO:0042384)|cilium movement (GO:0003341)|epithelial cell development (GO:0002064)|trachea development (GO:0060438)|ventricular system development (GO:0021591)	cell projection (GO:0042995)				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				AGTACAGGTGCAGGCCGTACT	0.547																																						ENST00000393567.2																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43						c.(8989-8991)ctG>ctA		HYDIN, axonemal central pair apparatus protein							122	120	121					16																	70934964		1988	4161	6149	SO:0001819	synonymous_variant	54768							g.chr16:70934964C>T	AK074472	CCDS10897.1, CCDS56004.1, CCDS56005.1, CCDS59269.1	16q22.2	2014-02-05	2012-01-06		ENSG00000157423	ENSG00000157423		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	19368	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 31"	610812	"hydrocephalus inducing", "hydrocephalus inducing homolog (mouse)"			12719380, 23022101	Standard	NM_001198542		Approved	DKFZp434D0513, KIAA1864, PPP1R31, CILD5	uc031qwy.1	Q4G0P3	OTTHUMG00000137584	ENST00000393567.2:c.8991G>A	16.37:g.70934964C>T							p.L2997L	NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN			53	9141	-		Ovarian(137;0.0654)	2997					A6NC70|A6NLZ0|B4DQY4|B4DRN4|F5H6V3|Q8N3H8|Q8N3P6|Q8TC08|Q96JG3|Q96SS4|Q9H5U3|Q9H9B8|Q9NTI0|Q9UBE5	Silent	SNP	ENST00000393567.2	37	c.8991G>A	CCDS59269.1																																																																																				0.547	HYDIN-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000398624.3			18	88	0	0	0	1	0	18	88					T	70934964	C	T	70934964	2	4	94	1	0	0	0	0	0	0	0	1	7467	697	25	3		3	HYDIN	16	70934964	Silent	SNP	C	TCGA-EJ-7782-01A-11D-2114-08	114728	70934964	19419789	370	5189											
ZNF19	7567	broad.mit.edu	37	chr16	71516014	71516014	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	agctttcagaggcatggctgCcatgacctggtctccctctt	6	12	10	13	0	3	2	1	1	2	1	4	2	3	2	3	3	2	3	3	3	0	2			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr16:71516014C>T	ENST00000288177.5	-	3	259	c.4G>A	c.(4-6)Gca>Aca	p.A2T	ZNF19_ENST00000564230.1_Missense_Mutation_p.A2T|ZNF19_ENST00000565637.1_Intron|AC010547.9_ENST00000561908.1_Missense_Mutation_p.A2T|ZNF19_ENST00000565100.2_5'UTR|ZNF19_ENST00000568446.1_5'Flank|ZNF19_ENST00000567225.1_Missense_Mutation_p.A2T	NM_006961.3	NP_008892.2	P17023	ZNF19_HUMAN	zinc finger protein 19	2					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(2)|endometrium(1)|kidney(2)|large_intestine(8)|lung(7)|prostate(1)|stomach(1)	22		Ovarian(137;0.00965)		BRCA - Breast invasive adenocarcinoma(221;0.0161)|Kidney(780;0.0598)		GGCATGGCTGCCATGACCTGG	0.493																																						ENST00000561908.1																			0											c.(4-6)Gca>Aca									61	50	53					16																	71516014		2198	4300	6498	SO:0001583	missense	0							g.chr16:71516014C>T	X52343	CCDS10901.1	16q22	2013-01-08	2006-05-10		ENSG00000157429	ENSG00000157429		"Zinc fingers, C2H2-type", "-"	12981	protein-coding gene	gene with protein product		194525	"zinc finger protein 19 (KOX 12)"			1505991, 1946370	Standard	NM_006961		Approved	KOX12, MGC51021	uc002fam.1	P17023	OTTHUMG00000137593	ENST00000288177.5:c.4G>A	16.37:g.71516014C>T	ENSP00000288177:p.Ala2Thr					ZNF19_ENST00000288177.5_Missense_Mutation_p.A2T|ZNF19_ENST00000567225.1_Missense_Mutation_p.A2T|ZNF19_ENST00000565637.1_Intron|ZNF19_ENST00000565100.2_5'UTR|ZNF19_ENST00000564230.1_Missense_Mutation_p.A2T	p.A2T							3	506	-								A8K895|Q86Y66|Q8NDE2|Q96M79|Q96NE5	Missense_Mutation	SNP	ENST00000288177.5	37	c.4G>A	CCDS10901.1	.	.	.	.	.	.	.	.	.	.	C	13.20	2.165405	0.38217	.	.	ENSG00000157429	ENST00000288177	T	0.06068	3.35	2.76	-1.62	0.08372	.	.	.	.	.	T	0.05547	0.0146	L	0.51914	1.62	0.21527	N	0.999654	B	0.14805	0.011	B	0.08055	0.003	T	0.40213	-0.9575	9	0.41790	T	0.15	.	2.6199	0.04913	0.2154:0.3819:0.0:0.4026	.	2	P17023	ZNF19_HUMAN	T	2	ENSP00000288177:A2T	ENSP00000288177:A2T	A	-	1	0	ZNF19	70073515	0.963000	0.33076	0.833000	0.33012	0.222000	0.24845	-0.122000	0.10627	-0.343000	0.08351	0.591000	0.81541	GCA		0.493	ZNF19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268993.2	NM_006961		10	11	0	0	0	1	0	10	11					T	71516014	C	T	71516014	3	4	94	1	0	0	0	0	1	0	0	0	17752	739	26	3	1388	3	ZNF19	16	71516014	Missense_Mutation	SNP	C	TCGA-EJ-7782-01A-11D-2114-08	581050	71516014	18838739	371	5190											
ZFHX3	463	broad.mit.edu	37	chr16	72822112	72822113	+	Frame_Shift_Ins	INS	-	-	C																															agtagggagcctggggacagINSccccatcagggcctgcgaca																										TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr16:72822112_72822113insC	ENST00000268489.5	-	10	10734_10735	c.10062_10063insG	c.(10060-10065)gggctgfs	p.L3355fs	AC004943.1_ENST00000584072.1_RNA|RP5-991G20.1_ENST00000563328.2_RNA|ZFHX3_ENST00000397992.5_Frame_Shift_Ins_p.L2441fs|RP5-991G20.4_ENST00000569195.1_RNA	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	3355					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|muscle organ development (GO:0007517)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of myoblast differentiation (GO:0045663)|regulation of neuron differentiation (GO:0045664)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	enzyme binding (GO:0019899)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				CCTGGGGACAGCCCCATCAGGG	0.624																																						ENST00000268489.5																			0				NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153						c.(10060-10065)ggtgtcfs		zinc finger homeobox 3																																				SO:0001589	frameshift_variant	463				muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr16:72822112_72822113insC	D10250	CCDS10908.1, CCDS54035.1	16q22.3	2012-03-09	2007-08-09	2007-08-09	ENSG00000140836	ENSG00000140836		"Zinc fingers, C2H2-type", "Homeoboxes / ZF class"	777	protein-coding gene	gene with protein product		104155	"AT-binding transcription factor 1"	ATBF1		1719379, 7592926	Standard	NM_006885		Approved	ZNF927	uc002fck.3	Q15911	OTTHUMG00000137599	ENST00000268489.5:c.10063dupG	16.37:g.72822116_72822116dupC	ENSP00000268489:p.Leu3355fs					ZFHX3_ENST00000397992.5_Frame_Shift_Ins_p.V2441fs	p.V3355fs	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN			10	10734_10735	-		Ovarian(137;0.13)	3355					D3DWS8|O15101|Q13719	Frame_Shift_Ins	INS	ENST00000268489.5	37	c.10062_10063insG	CCDS10908.1																																																																																				0.624	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269008.1	NM_006885		23	56						23	56	---	---	---	---	C	72822113	-	C	72822112	7	5	94	1	0	1	1	0	0	0	0	0	17631	962	34	0	1052	0	ZFHX3	16	72822112	Frame_Shift_Ins	INS	-	TCGA-EJ-7782-01A-11D-2114-08	1306098	72822112	17532641	372	5191											
ATP2C2	9914	broad.mit.edu	37	chr16	84438757	84438757	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gacttacacactgggctgtcGgagttctcggtgacgcagcg	7	9	14	11	4	1	1	0	1	1	0	3	3	1	2	0	3	2	3	0	3	1	2			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr16:84438757G>A	ENST00000262429.4	+	3	323	c.234G>A	c.(232-234)tcG>tcA	p.S78S	ATP2C2_ENST00000416219.2_Silent_p.S78S	NM_014861.2	NP_055676.2	O75185	AT2C2_HUMAN	ATPase, Ca++ transporting, type 2C, member 2	78					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|metal ion binding (GO:0046872)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(3)|skin(5)|urinary_tract(1)	33						CTGGGCTGTCGGAGTTCTCGG	0.567																																						ENST00000416219.2																			0				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(3)|skin(5)|urinary_tract(1)	33						c.(232-234)tcG>tcA		ATPase, Ca++ transporting, type 2C, member 2							73	79	77					16																	84438757		2109	4241	6350	SO:0001819	synonymous_variant	9914				ATP biosynthetic process	Golgi membrane|integral to membrane	ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding	g.chr16:84438757G>A	AK091051	CCDS42207.1, CCDS67088.1	16q24.1	2010-04-20			ENSG00000064270	ENSG00000064270	3.6.3.8	"ATPases / P-type"	29103	protein-coding gene	gene with protein product	"secretory pathway calcium ATPase 2"	613082				9734811	Standard	XM_006721355		Approved	KIAA0703, SPCA2	uc002fhx.3	O75185		ENST00000262429.4:c.234G>A	16.37:g.84438757G>A						ATP2C2_ENST00000262429.4_Silent_p.S78S	p.S78S			O75185	AT2C2_HUMAN			3	323	+			78					B4DU76|E7ES94|Q5HYC3|Q5S053|Q68CQ2	Silent	SNP	ENST00000262429.4	37	c.234G>A	CCDS42207.1																																																																																				0.567	ATP2C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433404.1	NM_014861		13	34	0	0	0	1	0	13	34					A	84438757	G	A	84438757	2	1	94	1	0	0	0	0	0	0	0	1	1144	1103	39	2		2	ATP2C2	16	84438757	Silent	SNP	G	TCGA-EJ-7782-01A-11D-2114-08	11616645	84438757	5915996	373	5192											
KIAA1609	57707	broad.mit.edu	37	chr16	84514162	84514162	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctctgaggggtctccaacCgcccacacctccatcttatc	7	10	6	18	1	3	1	0	1	3	0	7	1	5	1	6	2	1	0	6	2	2	1			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr16:84514162C>T	ENST00000343629.6	-	7	1412	c.1230G>A	c.(1228-1230)gcG>gcA	p.A410A	TLDC1_ENST00000535580.1_Silent_p.A383A	NM_020947.3	NP_065998.3	Q6P9B6	TLDC1_HUMAN	TBC/LysM-associated domain containing 1	410	TLD.					lysosomal membrane (GO:0005765)											GGTCTCCAACCGCCCACACCT	0.577																																						ENST00000343629.6																			0											c.(1228-1230)gcG>gcA		TBC/LysM-associated domain containing 1							95	77	83					16																	84514162		2200	4300	6500	SO:0001819	synonymous_variant	57707							g.chr16:84514162C>T	AB046829	CCDS32498.1	16q24.1	2013-03-14	2013-03-14	2013-03-14	ENSG00000140950	ENSG00000140950			29325	protein-coding gene	gene with protein product	"TLD domain containing 1"		"KIAA1609"	KIAA1609		10997877	Standard	NM_020947		Approved		uc002fib.3	Q6P9B6	OTTHUMG00000176739	ENST00000343629.6:c.1230G>A	16.37:g.84514162C>T						TLDC1_ENST00000535580.1_Silent_p.A383A	p.A410A	NM_020947.3	NP_065998.3					7	1412	-								Q8IZ64|Q9HCG3|Q9NTE8	Silent	SNP	ENST00000343629.6	37	c.1230G>A	CCDS32498.1																																																																																				0.577	TLDC1-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433421.1	NM_020947		15	26	0	0	0	1	0	15	26					T	84514162	C	T	84514162	2	4	94	1	0	0	0	0	0	0	0	1	8247	639	23	2		2	KIAA1609	16	84514162	Silent	SNP	C	TCGA-EJ-7782-01A-11D-2114-08	75405	84514162	5840591	374	5193											
COTL1	23406	broad.mit.edu	37	chr16	84600556	84600556	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctgatcacaaactccttagcGaaattctgcaagaacaaagg	16	8	7	10	1	2	2	1	1	1	1	3	3	3	2	1	1	4	1	1	1	6	2	rs577103781		TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr16:84600556G>A	ENST00000262428.4	-	4	486	c.324C>T	c.(322-324)ttC>ttT	p.F108F	COTL1_ENST00000564057.1_Silent_p.F39F|COTL1_ENST00000567278.1_5'UTR	NM_021149.2	NP_066972.1	Q14019	COTL1_HUMAN	coactosin-like F-actin binding protein 1	108	ADF-H. {ECO:0000255|PROSITE- ProRule:PRU00599}.				defense response to fungus (GO:0050832)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	actin binding (GO:0003779)|enzyme binding (GO:0019899)	p.F108F(1)		endometrium(1)|large_intestine(1)|liver(1)|lung(2)|skin(1)	6						ACTCCTTAGCGAAATTCTGCA	0.512													G|||	1	0.000199681	8e-04	0	5008	,	,		19671	0		0	False		,,,				2504	0					ENST00000262428.4																			1	Substitution - coding silent(1)	p.F108F(1)	large_intestine(1)	endometrium(1)|large_intestine(1)|liver(1)|lung(2)|skin(1)	6						c.(322-324)ttC>ttT		coactosin-like 1 (Dictyostelium)							80	79	79					16																	84600556		2199	4300	6499	SO:0001819	synonymous_variant	23406					cytoplasm|cytoskeleton	actin binding|enzyme binding	g.chr16:84600556G>A	L54057	CCDS10947.1	16q24.1	2014-03-05	2014-03-05	2002-08-01	ENSG00000103187	ENSG00000103187			18304	protein-coding gene	gene with protein product		606748	"coactosin-like 1 (Dictyostelium)"			10051563, 9326934, 16924104	Standard	NM_021149		Approved	CLP	uc002fid.3	Q14019	OTTHUMG00000137634	ENST00000262428.4:c.324C>T	16.37:g.84600556G>A						COTL1_ENST00000564057.1_Silent_p.F39F|COTL1_ENST00000567278.1_5'UTR	p.F108F	NM_021149.2	NP_066972.1	Q14019	COTL1_HUMAN			4	486	-			108			ADF-H.		B2RDU3|D3DUL9|Q86XM5	Silent	SNP	ENST00000262428.4	37	c.324C>T	CCDS10947.1																																																																																				0.512	COTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269075.1	NM_021149		12	36	0	0	0	1	0	12	36					A	84600556	G	A	84600556	2	1	94	1	0	0	0	0	0	0	0	1	3761	1049	37	2		2	COTL1	16	84600556	Silent	SNP	G	TCGA-EJ-7782-01A-11D-2114-08	86394	84600556	5754197	375	5194											
KLHL36	79786	broad.mit.edu	37	chr16	84690912	84690912	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaagcggcttgatgccttcAtcgatggcttcatcctgaac	8	12	9	12	2	3	2	3	2	0	0	5	3	4	2	2	2	3	2	2	2	2	3			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr16:84690912A>G	ENST00000564996.1	+	3	640	c.499A>G	c.(499-501)Atc>Gtc	p.I167V	KLHL36_ENST00000258157.5_Missense_Mutation_p.I167V	NM_024731.2	NP_079007.2	Q8N4N3	KLH36_HUMAN	kelch-like family member 36	167	BACK.				protein ubiquitination (GO:0016567)					endometrium(3)|large_intestine(1)|lung(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						TGATGCCTTCATCGATGGCTT	0.567																																						ENST00000564996.1																			0				endometrium(3)|large_intestine(1)|lung(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						c.(499-501)Atc>Gtc		kelch-like family member 36							93	76	82					16																	84690912		2199	4300	6499	SO:0001583	missense	79786							g.chr16:84690912A>G	AK022605	CCDS10948.1	16q24.1	2013-02-22	2013-02-22	2008-07-07	ENSG00000135686	ENSG00000135686		"Kelch-like", "BTB/POZ domain containing"	17844	protein-coding gene	gene with protein product			"chromosome 16 open reading frame 44", "kelch-like 36 (Drosophila)"	C16orf44			Standard	NM_024731		Approved	FLJ12543	uc002fig.3	Q8N4N3	OTTHUMG00000137642	ENST00000564996.1:c.499A>G	16.37:g.84690912A>G	ENSP00000456743:p.Ile167Val					KLHL36_ENST00000258157.5_Missense_Mutation_p.I167V	p.I167V	NM_024731.2	NP_079007.2	Q8N4N3	KLH36_HUMAN			3	640	+			167			BACK.		Q8N5G6|Q9H9U6	Missense_Mutation	SNP	ENST00000564996.1	37	c.499A>G	CCDS10948.1	.	.	.	.	.	.	.	.	.	.	A	0.431	-0.903431	0.02453	.	.	ENSG00000135686	ENST00000325279;ENST00000258157	T	0.67523	-0.27	5.66	2.23	0.28157	BTB/Kelch-associated (2);	0.000000	0.85682	D	0.000000	T	0.45337	0.1337	N	0.24115	0.695	0.53688	D	0.999977	B;B	0.15930	0.015;0.0	B;B	0.16289	0.015;0.006	T	0.11591	-1.0581	10	0.19147	T	0.46	.	6.3315	0.21272	0.7258:0.134:0.1401:0.0	.	167;167	Q8N4N3-2;Q8N4N3	.;KLH36_HUMAN	V	167	ENSP00000258157:I167V	ENSP00000258157:I167V	I	+	1	0	KLHL36	83248413	1.000000	0.71417	0.996000	0.52242	0.954000	0.61252	2.081000	0.41596	0.101000	0.17610	-0.371000	0.07208	ATC		0.567	KLHL36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269084.2			8	49	0	0	0	1	0	8	49					G	84690912	A	G	84690912	3	3	94	1	0	0	0	0	1	0	0	0	8389	217	8	4	505	4	KLHL36	16	84690912	Missense_Mutation	SNP	A	TCGA-EJ-7782-01A-11D-2114-08	90356	84690912	5663841	376	5195											
GEMIN4	50628	broad.mit.edu	37	chr17	650298	650298	+	Frame_Shift_Del	DEL	C	C	-																															gagcacggcctgcaactcctCcccccactcccgcagcaggt																								rs191715038	byFrequency	TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr17:650298delC	ENST00000319004.5	-	2	1103	c.985delG	c.(985-987)gagfs	p.E330fs	GEMIN4_ENST00000437269.1_3'UTR|GEMIN4_ENST00000576778.1_Frame_Shift_Del_p.E319fs	NM_015721.2	NP_056536.2	P57678	GEMI4_HUMAN	gem (nuclear organelle) associated protein 4	330					gene expression (GO:0010467)|ncRNA metabolic process (GO:0034660)|RNA metabolic process (GO:0016070)|rRNA processing (GO:0006364)|spliceosomal snRNP assembly (GO:0000387)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|small nuclear ribonucleoprotein complex (GO:0030532)|SMN complex (GO:0032797)|SMN-Sm protein complex (GO:0034719)		p.E329fs*24(1)		breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(4)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	22		Myeloproliferative disorder(207;0.204)		UCEC - Uterine corpus endometrioid carcinoma (25;0.022)		TGCAACTCCTCCCCCCACTCC	0.627																																						ENST00000576778.1																			1	Deletion - Frameshift(1)	p.E329fs*24(1)	large_intestine(1)	breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(4)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	22						c.(952-954)agfs		gem (nuclear organelle) associated protein 4							52	59	56					17																	650298		2105	4223	6328	SO:0001589	frameshift_variant	50628				rRNA processing|spliceosomal snRNP assembly	Cajal body|cytosol|nucleolus|small nuclear ribonucleoprotein complex|spliceosomal complex	protein binding	g.chr17:650298delC	AF177341	CCDS45559.1	17p13.3	2008-07-18				ENSG00000179409			15717	protein-coding gene	gene with protein product	"HCC-associated protein 1", "component of gems 4"	606969				10725331	Standard	NM_015721		Approved	HHRF-1, DKFZP434B131, p97, DKFZP434D174, HC56, HCAP1	uc002frs.1	P57678		ENST00000319004.5:c.985delG	17.37:g.650298delC	ENSP00000321706:p.Glu330fs					GEMIN4_ENST00000437269.1_3'UTR|GEMIN4_ENST00000319004.5_Frame_Shift_Del_p.E330fs	p.E319fs			P57678	GEMI4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.022)	1	2293	-		Myeloproliferative disorder(207;0.204)	330					Q9NZS7|Q9UG32|Q9Y4Q2	Frame_Shift_Del	DEL	ENST00000319004.5	37	c.952delG	CCDS45559.1																																																																																				0.627	GEMIN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437181.1	NM_015721		11	82						11	82	---	---	---	---	-	650298	C	-	650298	7	5	94	1	0	1	0	1	0	0	0	0	6330	864	30	0	2195	0	GEMIN4	17	650298	Frame_Shift_Del	DEL	C	TCGA-EJ-7782-01A-11D-2114-08		650298	80544912	377	5196											
SCARF1	8578	broad.mit.edu	37	chr17	1543259	1543259	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcccctgtcacagtatcacaGgacccctgaacacaggtggg	10	7	10	14	0	2	1	2	1	0	0	3	2	3	2	4	3	1	1	4	3	2	1			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr17:1543259G>T	ENST00000263071.4	-	6	1135	c.1086C>A	c.(1084-1086)tcC>tcA	p.S362S	SCARF1_ENST00000574545.1_5'Flank|SCARF1_ENST00000571272.1_Silent_p.S362S|SCARF1_ENST00000348987.3_Intron	NM_003693.2|NM_145350.1	NP_003684.2|NP_663325.1	Q14162	SREC_HUMAN	scavenger receptor class F, member 1	362	EGF-like 6. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cell adhesion (GO:0007155)|cholesterol catabolic process (GO:0006707)|dendrite development (GO:0016358)|neuron remodeling (GO:0016322)|positive regulation of axon regeneration (GO:0048680)|positive regulation of neuron projection development (GO:0010976)|receptor-mediated endocytosis (GO:0006898)|signal transduction (GO:0007165)	endocytic vesicle membrane (GO:0030666)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	low-density lipoprotein particle binding (GO:0030169)|scavenger receptor activity (GO:0005044)|transmembrane signaling receptor activity (GO:0004888)			cervix(1)|endometrium(3)|kidney(2)|lung(9)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		CAGTATCACAGGACCCCTGAA	0.642																																						ENST00000263071.4																			0				cervix(1)|endometrium(3)|kidney(2)|lung(9)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						c.(1084-1086)tcC>tcA		scavenger receptor class F, member 1							70	72	71					17																	1543259		2203	4300	6503	SO:0001819	synonymous_variant	8578				cell adhesion|neuron remodeling|positive regulation of axon regeneration|receptor-mediated endocytosis	integral to membrane	low-density lipoprotein particle binding|scavenger receptor activity	g.chr17:1543259G>T	D63483	CCDS11007.1, CCDS45564.1	17p13.3	2008-07-18			ENSG00000074660	ENSG00000074660			16820	protein-coding gene	gene with protein product	"scavenger receptor expressed by endothelial cells", "acetyl LDL receptor"	607873				9395444, 8590280	Standard	NM_003693		Approved	SREC, KIAA0149	uc002fsz.2	Q14162	OTTHUMG00000090555	ENST00000263071.4:c.1086C>A	17.37:g.1543259G>T						SCARF1_ENST00000571272.1_Silent_p.S362S|SCARF1_ENST00000348987.3_Intron	p.S362S	NM_003693.2|NM_145350.1	NP_003684.2|NP_663325.1	Q14162	SREC_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)	6	1135	-			362			EGF-like 6.		A8MQ05|O43701|Q8NHD2|Q8NHD3|Q8NHD4|Q8NHD5	Silent	SNP	ENST00000263071.4	37	c.1086C>A	CCDS11007.1																																																																																				0.642	SCARF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207081.4	NM_003693		7	35	1	0	2.7689e-08	1	2.90479e-08	7	35					T	1543259	G	T	1543259	2	4	94	1	0	0	0	0	0	0	0	1	13883	987	35	5		5	SCARF1	17	1543259	Silent	SNP	G	TCGA-EJ-7782-01A-11D-2114-08	892961	1543259	79651951	378	5197											
HIC1	3090	broad.mit.edu	37	chr17	1961548	1961548	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctacccatgcaccatctgcGggaagaagttcacgcagcgt	10	7	10	14	3	2	1	1	0	1	1	2	2	2	2	3	1	4	3	3	1	3	2			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr17:1961548G>A	ENST00000322941.3	+	2	1621	c.1621G>A	c.(1621-1623)Ggg>Agg	p.G541R	SMG6_ENST00000573166.1_5'Flank|HIC1_ENST00000399849.3_Missense_Mutation_p.G522R	NM_001098202.1	NP_001091672.1	Q14526	HIC1_HUMAN	hypermethylated in cancer 1	541					intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of Wnt signaling pathway (GO:0030178)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			large_intestine(1)|lung(1)|prostate(1)	3				READ - Rectum adenocarcinoma(1115;0.236)		CACCATCTGCGGGAAGAAGTT	0.682																																						ENST00000399849.2																			0				large_intestine(1)|lung(1)|prostate(1)	3						c.(1564-1566)Ggg>Agg		hypermethylated in cancer 1							21	23	22					17																	1961548		2198	4295	6493	SO:0001583	missense	3090				multicellular organismal development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr17:1961548G>A		CCDS42229.1, CCDS42230.1	17p13.3	2013-01-09				ENSG00000177374		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	4909	protein-coding gene	gene with protein product		603825					Standard	NM_006497		Approved	ZBTB29, ZNF901	uc010cjy.3	Q14526		ENST00000322941.3:c.1621G>A	17.37:g.1961548G>A	ENSP00000314080:p.Gly541Arg					HIC1_ENST00000322941.3_Missense_Mutation_p.G541R	p.G522R	NM_006497.3	NP_006488.2	Q14526	HIC1_HUMAN		READ - Rectum adenocarcinoma(1115;0.236)	2	1724	+			541					D3DTI4	Missense_Mutation	SNP	ENST00000322941.3	37	c.1564G>A	CCDS42229.1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.347433	0.82022	.	.	ENSG00000177374	ENST00000399849;ENST00000322941	T;T	0.03524	3.9;3.9	3.97	3.97	0.46021	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.18593	0.0446	M	0.77313	2.365	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.01330	-1.1383	9	0.87932	D	0	.	16.1856	0.81948	0.0:0.0:1.0:0.0	.	541	Q14526	HIC1_HUMAN	R	522;541	ENSP00000382742:G522R;ENSP00000314080:G541R	ENSP00000314080:G541R	G	+	1	0	HIC1	1908298	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.307000	0.96226	2.226000	0.72624	0.511000	0.50034	GGG		0.682	HIC1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438878.1	NM_006497		6	13	0	0	0	1	0	6	13					A	1961548	G	A	1961548	3	1	94	1	0	0	0	0	1	0	0	0	7101	1116	39	2	1627	2	HIC1	17	1961548	Missense_Mutation	SNP	G	TCGA-EJ-7782-01A-11D-2114-08	418289	1961548	79233662	379	5198											
OR3A1	4994	broad.mit.edu	37	chr17	3195143	3195143	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	caaccacagtgaggtgggagCcacatgtggagaaggctttc	11	7	14	9	0	0	2	0	1	0	1	1	4	0	3	2	4	2	1	2	4	2	1			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr17:3195143C>T	ENST00000323404.1	-	1	733	c.734G>A	c.(733-735)gGc>gAc	p.G245D	RP11-64J4.2_ENST00000573491.1_RNA	NM_002550.2	NP_002541.2	P47881	OR3A1_HUMAN	olfactory receptor, family 3, subfamily A, member 1	245					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	20						GAGGTGGGAGCCACATGTGGA	0.493																																					GBM(20;287 516 18743 28660 36594)	ENST00000323404.1																			0				central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	20						c.(733-735)gGc>gAc		olfactory receptor, family 3, subfamily A, member 1							81	78	79					17																	3195143		2203	4300	6503	SO:0001583	missense	4994				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr17:3195143C>T	X80391	CCDS11023.1	17p13.3	2012-08-09			ENSG00000180090	ENSG00000180090		"GPCR / Class A : Olfactory receptors"	8282	protein-coding gene	gene with protein product						8921386, 8647456	Standard	NM_002550		Approved	OLFRA03, OR40, OR17-40	uc002fvh.1	P47881	OTTHUMG00000090642	ENST00000323404.1:c.734G>A	17.37:g.3195143C>T	ENSP00000313803:p.Gly245Asp					RP11-64J4.2_ENST00000573491.1_RNA	p.G245D	NM_002550.2	NP_002541.2	P47881	OR3A1_HUMAN			1	733	-			245					Q4VB06|Q6IFM4	Missense_Mutation	SNP	ENST00000323404.1	37	c.734G>A	CCDS11023.1	.	.	.	.	.	.	.	.	.	.	C	12.34	1.908397	0.33721	.	.	ENSG00000180090	ENST00000323404	T	0.37915	1.17	5.01	3.97	0.46021	GPCR, rhodopsin-like superfamily (1);	0.254805	0.28365	N	0.015604	T	0.50069	0.1594	M	0.89785	3.06	0.09310	N	1	P	0.45126	0.851	P	0.47603	0.551	T	0.54906	-0.8223	10	0.87932	D	0	-15.9494	7.7715	0.29010	0.2745:0.577:0.1485:0.0	.	245	P47881	OR3A1_HUMAN	D	245	ENSP00000313803:G245D	ENSP00000313803:G245D	G	-	2	0	OR3A1	3141893	0.000000	0.05858	0.988000	0.46212	0.223000	0.24884	0.110000	0.15437	2.753000	0.94483	0.650000	0.86243	GGC		0.493	OR3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207302.2			23	53	0	0	0	1	0	23	53					T	3195143	C	T	3195143	3	4	94	1	0	0	0	0	1	0	0	0	11037	739	26	3	217	3	OR3A1	17	3195143	Missense_Mutation	SNP	C	TCGA-EJ-7782-01A-11D-2114-08	1233595	3195143	78000067	380	5199											
PFN1	5216	broad.mit.edu	37	chr17	4850039	4850041	+	In_Frame_Del	DEL	TTC	TTC	-																															agtcccggatcaccgaacatTtctggcccccaagtgtcagc																										TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr17:4850039_4850041delTTC	ENST00000225655.5	-	2	826_828	c.207_209delGAA	c.(205-210)cagaaa>caa	p.K70del	PFN1_ENST00000574872.1_In_Frame_Del_p.K34del	NM_005022.3	NP_005013.1	P07737	PROF1_HUMAN	profilin 1	70					actin cytoskeleton organization (GO:0030036)|blood coagulation (GO:0007596)|cell death (GO:0008219)|negative regulation of actin filament bundle assembly (GO:0032232)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of stress fiber assembly (GO:0051497)|neural tube closure (GO:0001843)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of ATPase activity (GO:0032781)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of ruffle assembly (GO:1900029)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	blood microparticle (GO:0072562)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)	actin binding (GO:0003779)|adenyl-nucleotide exchange factor activity (GO:0000774)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|poly(A) RNA binding (GO:0044822)|proline-rich region binding (GO:0070064)			NS(1)|endometrium(1)|lung(2)|upper_aerodigestive_tract(1)	5						CACCGAACATTTCTGGCCCCCAA	0.562																																						ENST00000225655.5																			0				NS(1)|endometrium(1)|lung(2)|upper_aerodigestive_tract(1)	5						c.(205-210)caa>ca		profilin 1																																				SO:0001651	inframe_deletion	5216				actin cytoskeleton organization|platelet activation|platelet degranulation	actin cytoskeleton|cytoplasm	actin binding|proline-rich region binding	g.chr17:4850039_4850041delTTC	BC057828	CCDS11061.1	17p13.2	2010-07-09			ENSG00000108518	ENSG00000108518			8881	protein-coding gene	gene with protein product		176610				3356709, 1968707	Standard	NM_005022		Approved		uc002gaa.4	P07737	OTTHUMG00000099396	ENST00000225655.5:c.207_209delGAA	17.37:g.4850039_4850041delTTC	ENSP00000225655:p.Lys70del					PFN1_ENST00000574872.1_In_Frame_Del_p.QK33del	p.QK69del	NM_005022.3	NP_005013.1	P07737	PROF1_HUMAN			2	826_828	-			69					Q53Y44	In_Frame_Del	DEL	ENST00000225655.5	37	c.207_209delGAA	CCDS11061.1																																																																																				0.562	PFN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216853.1	NM_005022		22	67						22	67	---	---	---	---	-	4850041	TTC	-	4850039	7	5	94	1	0	1	0	1	0	0	0	0	11767	1841	64	0	221	0	PFN1	17	4850039	In_Frame_Del	DEL	TTC	TCGA-EJ-7782-01A-11D-2114-08	1654896	4850039	76345171	381	5200											
NEURL4	84461	broad.mit.edu	37	chr17	7224437	7224437	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ctgcagcctcttactcccagGccatgctcctcgccctcgtc	4	10	7	20	2	1	0	0	0	1	0	6	0	3	0	5	1	4	2	5	1	1	1			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr17:7224437G>A	ENST00000399464.2	-	20	3369	c.3354C>T	c.(3352-3354)ggC>ggT	p.G1118G	NEURL4_ENST00000574120.1_5'Flank|NEURL4_ENST00000570460.1_Silent_p.G1094G|RP11-542C16.2_ENST00000575474.1_5'Flank|NEURL4_ENST00000315614.7_Silent_p.G1116G	NM_032442.2	NP_115818.2	Q96JN8	NEUL4_HUMAN	neuralized E3 ubiquitin protein ligase 4	1118						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						TTACTCCCAGGCCATGCTCCT	0.612																																						ENST00000399464.2																			0				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						c.(3352-3354)ggC>ggT		neuralized E3 ubiquitin protein ligase 4							62	65	64					17																	7224437		2192	4284	6476	SO:0001819	synonymous_variant	84461							g.chr17:7224437G>A		CCDS42251.1, CCDS42252.1	17p13	2013-10-24	2013-10-24		ENSG00000215041	ENSG00000215041			34410	protein-coding gene	gene with protein product		615865	"neuralized homolog 4 (Drosophila)"			22261722, 22441691	Standard	NM_001005408		Approved	KIAA1787	uc002gga.1	Q96JN8	OTTHUMG00000132319	ENST00000399464.2:c.3354C>T	17.37:g.7224437G>A						NEURL4_ENST00000315614.7_Silent_p.G1116G|NEURL4_ENST00000570460.1_Silent_p.G1094G	p.G1118G	NM_032442.2	NP_115818.2					20	3369	-								Q6GPI8|Q96IU9|Q9H0B0	Silent	SNP	ENST00000399464.2	37	c.3354C>T	CCDS42251.1																																																																																				0.612	NEURL4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255434.2	NM_032442		4	45	0	0	0	1	0	4	45					A	7224437	G	A	7224437	2	1	94	1	0	0	0	0	0	0	0	1	10347	1190	42	3		3	NEURL4	17	7224437	Silent	SNP	G	TCGA-EJ-7782-01A-11D-2114-08	2374398	7224437	73970773	382	5201											
RCVRN	5957	broad.mit.edu	37	chr17	9804388	9804388	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgtctggaaggagcttcacGtcctcgggagtgatcatttt	7	13	12	9	3	3	1	2	1	1	0	6	4	4	4	1	3	1	1	1	3	1	3	rs534691469	byFrequency	TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr17:9804388G>A	ENST00000226193.5	-	2	851	c.411C>T	c.(409-411)gaC>gaT	p.D137D	RCVRN_ENST00000570909.3_5'UTR	NM_002903.2	NP_002894.1	P35243	RECO_HUMAN	recoverin	137					phototransduction, visible light (GO:0007603)|positive regulation of guanylate cyclase activity (GO:0031284)|regulation of calcium ion transport (GO:0051924)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|signal transduction (GO:0007165)|visual perception (GO:0007601)	dendrite (GO:0030425)	calcium ion binding (GO:0005509)|calcium sensitive guanylate cyclase activator activity (GO:0008048)			endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|upper_aerodigestive_tract(1)	12						GGAGCTTCACGTCCTCGGGAG	0.453													G|||	4	0.000798722	0	0	5008	,	,		18963	0		0	False		,,,				2504	0.0041					ENST00000226193.5																			0				endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|upper_aerodigestive_tract(1)	12						c.(409-411)gaC>gaT		recoverin							98	93	95					17																	9804388		2203	4300	6503	SO:0001819	synonymous_variant	5957				visual perception		calcium ion binding|calcium sensitive guanylate cyclase activator activity	g.chr17:9804388G>A	BC001720	CCDS11151.1	17p13.1	2013-01-10		2006-09-26	ENSG00000109047	ENSG00000109047		"EF-hand domain containing"	9937	protein-coding gene	gene with protein product		179618		RCV1		1387789, 12507501, 1467959, 12789533	Standard	NM_002903		Approved		uc002gme.1	P35243	OTTHUMG00000130268	ENST00000226193.5:c.411C>T	17.37:g.9804388G>A						RCVRN_ENST00000570909.2_Silent_p.D6D	p.D137D	NM_002903.2	NP_002894.1	P35243	RECO_HUMAN			2	851	-			137					Q53XL0	Silent	SNP	ENST00000226193.5	37	c.411C>T	CCDS11151.1																																																																																				0.453	RCVRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252600.2	NM_002903		12	24	0	0	0	1	0	12	24					A	9804388	G	A	9804388	2	1	94	1	0	0	0	0	0	0	0	1	13186	1136	40	1		1	RCVRN	17	9804388	Silent	SNP	G	TCGA-EJ-7782-01A-11D-2114-08	2579951	9804388	71390822	383	5202											
MYH2	4620	broad.mit.edu	37	chr17	10448739	10448739	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tcctggcgctttttgcctcgGtaggctgtcaccacctcggg	3	12	12	14	3	1	0	1	0	0	0	4	0	2	0	4	4	1	3	4	4	1	3			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr17:10448739G>A	ENST00000245503.5	-	5	813	c.429C>T	c.(427-429)taC>taT	p.Y143Y	MYH2_ENST00000532183.2_Silent_p.Y143Y|CTC-297N7.11_ENST00000587182.2_RNA|MYH2_ENST00000397183.2_Silent_p.Y143Y	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	143	Myosin motor.				Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|plasma membrane repair (GO:0001778)|response to activity (GO:0014823)	A band (GO:0031672)|actomyosin contractile ring (GO:0005826)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|protein complex (GO:0043234)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						TTTTGCCTCGGTAGGCTGTCA	0.522																																						ENST00000245503.5																			0				NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						c.(427-429)taC>taT		myosin, heavy chain 2, skeletal muscle, adult							126	130	128					17																	10448739		2203	4300	6503	SO:0001819	synonymous_variant	4620				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr17:10448739G>A		CCDS11156.1	17p13.1	2014-02-04	2006-09-29		ENSG00000125414	ENSG00000125414		"Myosins / Myosin superfamily : Class II"	7572	protein-coding gene	gene with protein product		160740	"myosin, heavy polypeptide 2, skeletal muscle, adult", "inclusion body myopathy 3, autosomal dominant"	IBM3		7545970, 11889243	Standard	NM_001100112		Approved	MYH2A, MYHSA2, MyHC-IIa, MYHas8, MyHC-2A	uc010coi.3	Q9UKX2	OTTHUMG00000130363	ENST00000245503.5:c.429C>T	17.37:g.10448739G>A						CTC-297N7.7_ENST00000587182.1_RNA|MYH2_ENST00000397183.2_Silent_p.Y143Y|MYH2_ENST00000532183.1_Silent_p.Y143Y	p.Y143Y	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN			5	813	-			143			Myosin head-like.		A0AVL4|Q14322|Q16229|Q567P6|Q86T56	Silent	SNP	ENST00000245503.5	37	c.429C>T	CCDS11156.1																																																																																				0.522	MYH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252726.3	NM_017534		43	88	0	0	0	1	0	43	88					A	10448739	G	A	10448739	2	1	94	1	0	0	0	0	0	0	0	1	10035	1256	44	3		3	MYH2	17	10448739	Silent	SNP	G	TCGA-EJ-7782-01A-11D-2114-08	644351	10448739	70746471	384	5203											
NCOR1	9611	broad.mit.edu	37	chr17	15965099	15965099	+	Frame_Shift_Del	DEL	G	G	-																															tgttttggacacatccatctGgggtgcagaagctgcagcat																										TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr17:15965099delG	ENST00000268712.3	-	37	5754	c.5497delC	c.(5497-5499)cagfs	p.Q1833fs	NCOR1_ENST00000395857.3_Frame_Shift_Del_p.Q417fs|NCOR1_ENST00000395851.1_Frame_Shift_Del_p.Q1849fs	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN	nuclear receptor corepressor 1	1833	Interaction with C1D. {ECO:0000250}.				CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation (GO:0002361)|cellular lipid metabolic process (GO:0044255)|cholesterol homeostasis (GO:0042632)|chromatin modification (GO:0016568)|circadian regulation of gene expression (GO:0032922)|definitive erythrocyte differentiation (GO:0060318)|gene expression (GO:0010467)|negative regulation of JNK cascade (GO:0046329)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of histone deacetylation (GO:0031065)|regulation of fatty acid transport (GO:2000191)|regulation of glycolytic process by negative regulation of transcription from RNA polymerase II promoter (GO:0072362)|regulation of lipid transport by negative regulation of transcription from RNA polymerase II promoter (GO:0072368)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|spindle assembly (GO:0051225)|thalamus development (GO:0021794)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|histone deacetylase binding (GO:0042826)|histone deacetylase regulator activity (GO:0035033)|nuclear hormone receptor binding (GO:0035257)|RNA polymerase II activating transcription factor binding (GO:0001102)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		ACATCCATCTGGGGTGCAGAA	0.532																																						ENST00000268712.3																			0				NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107						c.(5497-5499)agfs		nuclear receptor corepressor 1							58	62	61					17																	15965099		2203	4299	6502	SO:0001589	frameshift_variant	9611				cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter	nuclear chromatin|spindle microtubule|transcriptional repressor complex	histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding	g.chr17:15965099delG	AF044209	CCDS11175.1, CCDS54094.1, CCDS54095.1	17p11.2	2014-06-12	2010-06-10		ENSG00000141027	ENSG00000141027			7672	protein-coding gene	gene with protein product	"thyroid hormone- and retinoic acid receptor-associated corepressor 1", "protein phosphatase 1, regulatory subunit 109"	600849	"nuclear receptor co-repressor 1"			7566114, 9724795	Standard	NM_006311		Approved	N-CoR, hCIT529I10, TRAC1, hN-CoR, KIAA1047, MGC104216, PPP1R109	uc002gpo.3	O75376	OTTHUMG00000059309	ENST00000268712.3:c.5497delC	17.37:g.15965099delG	ENSP00000268712:p.Gln1833fs					NCOR1_ENST00000395851.1_Frame_Shift_Del_p.Q1849fs|NCOR1_ENST00000395857.3_Frame_Shift_Del_p.Q417fs	p.Q1833fs	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.101)	37	5754	-			1833			Interaction with C1D (By similarity).		B3DLF8|E9PGV6|Q86YY0|Q9UPV5|Q9UQ18	Frame_Shift_Del	DEL	ENST00000268712.3	37	c.5497delC	CCDS11175.1																																																																																				0.532	NCOR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131751.5	NM_006311		17	56						17	56	---	---	---	---	-	15965099	G	-	15965099	7	5	94	1	0	1	0	1	0	0	0	0	10235	1357	47	0	1865	0	NCOR1	17	15965099	Frame_Shift_Del	DEL	G	TCGA-EJ-7782-01A-11D-2114-08	5516360	15965099	65230111	385	5204											
EVPLL	645027	broad.mit.edu	37	chr17	18286413	18286413	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgcacgtggcagctgagcGccctggcggagcagcagcgc	6	4	17	14	4	0	1	0	1	0	0	0	2	0	2	1	3	6	6	1	3	0	0			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr17:18286413G>A	ENST00000399134.4	+	7	944	c.586G>A	c.(586-588)Gcc>Acc	p.A196T	RP1-37N7.1_ENST00000579352.1_RNA	NM_001145127.1	NP_001138599.1	A8MZ36	EVPLL_HUMAN	envoplakin-like	196										NS(1)|endometrium(1)|large_intestine(1)|lung(2)	5						GCAGCTGAGCGCCCTGGCGGA	0.726																																						ENST00000399134.4																			0				NS(1)|endometrium(1)|large_intestine(1)|lung(2)	5						c.(586-588)Gcc>Acc		envoplakin-like							4	9	7					17																	18286413		637	1497	2134	SO:0001583	missense	645027							g.chr17:18286413G>A		CCDS45626.1	17p11.2	2009-08-25			ENSG00000214860	ENSG00000214860			35236	protein-coding gene	gene with protein product							Standard	NM_001145127		Approved		uc002gte.3	A8MZ36	OTTHUMG00000059095	ENST00000399134.4:c.586G>A	17.37:g.18286413G>A	ENSP00000382086:p.Ala196Thr					RP1-37N7.1_ENST00000579352.1_RNA	p.A196T	NM_001145127.1	NP_001138599.1	A8MZ36	EVPLL_HUMAN			7	944	+			196					B4DPD4	Missense_Mutation	SNP	ENST00000399134.4	37	c.586G>A	CCDS45626.1	.	.	.	.	.	.	.	.	.	.	.	16.21	3.057501	0.55325	.	.	ENSG00000214860	ENST00000399134	T	0.30448	1.53	0.505	-0.984	0.10259	.	.	.	.	.	T	0.24967	0.0606	N	0.19112	0.55	0.09310	N	1	D	0.64830	0.994	P	0.55508	0.777	T	0.11792	-1.0573	9	0.66056	D	0.02	.	1.4097	0.02288	0.3255:0.0:0.3289:0.3456	.	196	A8MZ36	EVPLL_HUMAN	T	196	ENSP00000382086:A196T	ENSP00000382086:A196T	A	+	1	0	EVPLL	18227138	0.985000	0.35326	0.932000	0.37286	0.281000	0.26958	1.902000	0.39848	-0.323000	0.08602	0.089000	0.15464	GCC		0.726	EVPLL-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000130836.2	NM_001145127		3	2	0	0	0	1	0	3	2					A	18286413	G	A	18286413	3	1	94	1	0	0	0	0	1	0	0	0	5293	1087	38	1	608	1	EVPLL	17	18286413	Missense_Mutation	SNP	G	TCGA-EJ-7782-01A-11D-2114-08	2321314	18286413	62908797	386	5205											
CYTSB	92521	broad.mit.edu	37	chr17	20160892	20160892	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gactgctgagtgcttccaccCgggcatggaaaccacaaagc	11	6	11	13	1	0	1	0	1	0	0	1	3	1	2	3	2	4	3	3	2	2	1			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr17:20160892C>T	ENST00000261503.5	+	11	2860	c.2809C>T	c.(2809-2811)Cgg>Tgg	p.R937W	SPECC1_ENST00000395527.4_Missense_Mutation_p.R937W|SPECC1_ENST00000395530.2_Missense_Mutation_p.R856W|AC004702.2_ENST00000580225.1_lincRNA|SPECC1_ENST00000536879.1_Missense_Mutation_p.R277W	NM_001033553.2	NP_001028725.1	Q5M775	CYTSB_HUMAN	sperm antigen with calponin homology and coiled-coil domains 1	937					cell adhesion (GO:0007155)	nucleus (GO:0005634)				breast(1)|large_intestine(3)|ovary(4)	8				KIRC - Kidney renal clear cell carcinoma(2;0.166)|Kidney(2;0.196)		TGCTTCCACCCGGGCATGGAA	0.502																																						ENST00000395530.2																			0				breast(1)|large_intestine(3)|ovary(4)	8						c.(2566-2568)Cgg>Tgg		sperm antigen with calponin homology and coiled-coil domains 1							50	50	50					17																	20160892		2203	4300	6503	SO:0001583	missense	92521					nucleus		g.chr17:20160892C>T	AY816329, AB041533	CCDS32590.1, CCDS42280.1, CCDS42281.1, CCDS45628.1, CCDS58531.1	17p11.2	2012-11-19	2010-09-17	2010-09-17	ENSG00000128487	ENSG00000128487			30615	protein-coding gene	gene with protein product	"sperm antigen HCMOGT 1", "cytokinesis and spindle organization B", "cytospin B"	608793				15602574, 18763323, 15087372	Standard	NM_001033553		Approved	HCMOGT-1, FLJ36955, NSP, CYTSB	uc002gwq.3	Q5M775	OTTHUMG00000179808	ENST00000261503.5:c.2809C>T	17.37:g.20160892C>T	ENSP00000261503:p.Arg937Trp					SPECC1_ENST00000395527.4_Missense_Mutation_p.R937W|SPECC1_ENST00000536879.1_Missense_Mutation_p.R277W|SPECC1_ENST00000261503.5_Missense_Mutation_p.R937W|AC004702.2_ENST00000580225.1_lincRNA	p.R856W	NM_001033555.2	NP_001028727.1	Q5M775	CYTSB_HUMAN		KIRC - Kidney renal clear cell carcinoma(2;0.166)|Kidney(2;0.196)	9	2774	+			937					B4DHH0|B7WNS8|Q5IBP1|Q5IBP2|Q5IBP3|Q5IBP4|Q5M772|Q5M773|Q5M774|Q86XT8|Q8N4U4|Q8WU84|Q9HCQ3	Missense_Mutation	SNP	ENST00000261503.5	37	c.2566C>T	CCDS32590.1	.	.	.	.	.	.	.	.	.	.	C	8.204	0.798732	0.16397	.	.	ENSG00000128487	ENST00000395530;ENST00000261503;ENST00000536879;ENST00000395527	T;D	0.94687	-0.09;-3.49	4.66	-0.0195	0.13959	.	0.647548	0.16262	N	0.222218	D	0.85517	0.5715	N	0.08118	0	0.09310	N	1	P;D;P	0.58620	0.738;0.983;0.738	P;P;B	0.45712	0.462;0.491;0.39	T	0.79831	-0.1637	10	0.56958	D	0.05	-11.3215	4.1863	0.10400	0.3263:0.1688:0.5049:0.0	.	937;856;937	A8MV89;Q5M775-4;Q5M775	.;.;CYTSB_HUMAN	W	937;937;277;856	ENSP00000261503:R937W;ENSP00000438294:R277W	ENSP00000261503:R937W	R	+	1	2	SPECC1	20101484	0.252000	0.23972	0.002000	0.10522	0.000000	0.00434	0.425000	0.21346	-0.028000	0.13850	-1.763000	0.00667	CGG		0.502	SPECC1-018	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441206.1	NM_152904		16	23	0	0	0	1	0	16	23					T	20160892	C	T	20160892	3	4	94	1	0	0	0	0	1	0	0	0	4210	643	23	2	2917	2	CYTSB	17	20160892	Missense_Mutation	SNP	C	TCGA-EJ-7782-01A-11D-2114-08	1874479	20160892	61034318	387	5206											
KSR1	8844	broad.mit.edu	37	chr17	25944348	25944348	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgtcggcctgctgggctttcGacctgcaggagagacccagc	6	8	14	13	2	0	1	0	0	0	1	2	4	0	2	3	3	3	3	3	3	0	1	rs560099866	byFrequency	TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr17:25944348G>A	ENST00000319524.6	+	20	2587	c.2587G>A	c.(2587-2589)Gac>Aac	p.D863N	KSR1_ENST00000268763.6_Missense_Mutation_p.D726N|KSR1_ENST00000509603.2_Missense_Mutation_p.D841N|KSR1_ENST00000582410.1_Missense_Mutation_p.D77N|KSR1_ENST00000398988.3_Missense_Mutation_p.D726N			Q8IVT5	KSR1_HUMAN	kinase suppressor of ras 1	863	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				Ras protein signal transduction (GO:0007265)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(12)|prostate(2)|urinary_tract(1)	28	Lung NSC(42;0.00836)		BRCA - Breast invasive adenocarcinoma(3;0.00122)	UCEC - Uterine corpus endometrioid carcinoma (53;0.168)		CTGGGCTTTCGACCTGCAGGA	0.607													G|||	2	0.000399361	0	0	5008	,	,		17876	0.002		0	False		,,,				2504	0				Esophageal Squamous(88;1120 1336 6324 10502 16832)	ENST00000398988.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(12)|prostate(2)|urinary_tract(1)	28						c.(2176-2178)Gac>Aac		kinase suppressor of ras 1							32	34	33					17																	25944348		2011	4157	6168	SO:0001583	missense	8844				Ras protein signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr17:25944348G>A	U43586	CCDS58532.1	17q11.2	2012-05-23	2005-12-14	2005-12-14	ENSG00000141068	ENSG00000141068			6465	protein-coding gene	gene with protein product		601132	"kinase suppressor of ras"	KSR		8521512	Standard	XM_006722151		Approved	RSU2	uc031qzj.1	Q8IVT5	OTTHUMG00000132051	ENST00000319524.6:c.2587G>A	17.37:g.25944348G>A	ENSP00000323178:p.Asp863Asn					KSR1_ENST00000268763.6_Missense_Mutation_p.D726N|KSR1_ENST00000582410.1_Missense_Mutation_p.D77N|KSR1_ENST00000319524.6_Missense_Mutation_p.D863N|KSR1_ENST00000509603.2_Missense_Mutation_p.D841N	p.D726N	NM_014238.1	NP_055053.1	Q8IVT5	KSR1_HUMAN	BRCA - Breast invasive adenocarcinoma(3;0.00122)	UCEC - Uterine corpus endometrioid carcinoma (53;0.168)	21	2621	+	Lung NSC(42;0.00836)		861			Protein kinase.		F8WEA9|H7BYU0|Q13476	Missense_Mutation	SNP	ENST00000319524.6	37	c.2176G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.86|12.86	2.065225|2.065225	0.36470|0.36470	.|.	.|.	ENSG00000141068|ENSG00000141068	ENST00000319524;ENST00000509603;ENST00000268763;ENST00000398982|ENST00000398988	T;T;T|.	0.48522|.	0.81;0.81;0.81|.	5.32|5.32	4.35|4.35	0.52113|0.52113	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.096478|.	0.64402|.	N|.	0.000001|.	T|T	0.39733|0.39733	0.1089|0.1089	N|N	0.11724|0.11724	0.165|0.165	0.45852|0.45852	D|D	0.998711|0.998711	B;B|.	0.24258|.	0.1;0.019|.	B;B|.	0.19148|.	0.024;0.012|.	T|T	0.11616|0.11616	-1.0580|-1.0580	10|5	0.22109|.	T|.	0.4|.	.|.	14.1505|14.1505	0.65381|0.65381	0.1411:0.0:0.8589:0.0|0.1411:0.0:0.8589:0.0	.|.	861;841|.	Q8IVT5;F5H0K8|.	KSR1_HUMAN;.|.	N|Q	863;841;726;726|576	ENSP00000323178:D863N;ENSP00000438795:D841N;ENSP00000268763:D726N|.	ENSP00000268763:D726N|.	D|R	+|+	1|2	0|0	KSR1|KSR1	22968475|22968475	1.000000|1.000000	0.71417|0.71417	0.663000|0.663000	0.29738|0.29738	0.896000|0.896000	0.52359|0.52359	3.405000|3.405000	0.52630|0.52630	0.643000|0.643000	0.30638|0.30638	-1.151000|-1.151000	0.01829|0.01829	GAC|CGA		0.607	KSR1-202	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_014238		4	17	0	0	0	1	0	4	17					A	25944348	G	A	25944348	3	1	94	1	0	0	0	0	1	0	0	0	8581	1058	37	2	2242	2	KSR1	17	25944348	Missense_Mutation	SNP	G	TCGA-EJ-7782-01A-11D-2114-08	5783456	25944348	55250862	388	5207											
RFFL	117584	broad.mit.edu	37	chr17	33344575	33344575	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcagcaggtactctggccacGctctccaggtagacgggttc	7	9	12	13	2	3	1	1	0	2	1	5	1	3	1	2	4	2	5	2	4	2	3			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr17:33344575G>A	ENST00000315249.7	-	4	864	c.642C>T	c.(640-642)agC>agT	p.S214S	RFFL_ENST00000394597.2_Silent_p.S214S|RFFL_ENST00000268850.7_Intron|RFFL_ENST00000413582.2_Silent_p.S214S|RAD51L3-RFFL_ENST00000593039.1_Intron|RFFL_ENST00000378516.2_Silent_p.S214S|RFFL_ENST00000415395.2_Silent_p.S214S|RFFL_ENST00000584655.1_Intron|RFFL_ENST00000447669.2_Silent_p.S214S					ring finger and FYVE-like domain containing E3 ubiquitin protein ligase											kidney(1)|large_intestine(2)|lung(3)	6		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0227)		CTCTGGCCACGCTCTCCAGGT	0.527																																						ENST00000315249.7																			0				kidney(1)|large_intestine(2)|lung(3)	6						c.(640-642)agC>agT		ring finger and FYVE-like domain containing E3 ubiquitin protein ligase							69	59	62					17																	33344575		2203	4300	6503	SO:0001819	synonymous_variant	117584				apoptosis	membrane	ligase activity|zinc ion binding	g.chr17:33344575G>A	AF434816	CCDS11286.1	17q12	2012-02-23	2012-02-23		ENSG00000092871	ENSG00000092871		"RING-type (C3HC4) zinc fingers"	24821	protein-coding gene	gene with protein product		609735	"ring finger and FYVE-like domain containing"			15229288	Standard	NR_037713		Approved	rififylin, fring, RNF189, RNF34L	uc002hin.1	Q8WZ73	OTTHUMG00000132933	ENST00000315249.7:c.642C>T	17.37:g.33344575G>A						RFFL_ENST00000584655.1_Intron|RFFL_ENST00000415395.2_Silent_p.S214S|RFFL_ENST00000413582.2_Silent_p.S214S|RFFL_ENST00000394597.2_Silent_p.S214S|RFFL_ENST00000378516.2_Silent_p.S214S|RFFL_ENST00000268850.7_Intron|RFFL_ENST00000447669.2_Silent_p.S214S|RAD51L3-RFFL_ENST00000593039.1_Intron	p.S214S			Q8WZ73	RFFL_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0227)	4	864	-		Ovarian(249;0.17)	214						Silent	SNP	ENST00000315249.7	37	c.642C>T	CCDS11286.1																																																																																				0.527	RFFL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256460.2	NM_057178		4	7	0	0	0	1	0	4	7					A	33344575	G	A	33344575	2	1	94	1	0	0	0	0	0	0	0	1	13250	1078	38	1		1	RFFL	17	33344575	Silent	SNP	G	TCGA-EJ-7782-01A-11D-2114-08	7400227	33344575	47850635	389	5208											
PIGW	284098	broad.mit.edu	37	chr17	34893859	34893859	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtctattaaatgccaaccgCgaaggaataatctctaccct	13	10	7	11	2	2	0	0	0	2	0	3	2	2	1	3	2	3	0	3	2	8	4	rs199843214		TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr17:34893859C>T	ENST00000592983.1	+	2	1489	c.909C>T	c.(907-909)cgC>cgT	p.R303R	MYO19_ENST00000590081.1_Intron|PIGW_ENST00000328396.2_Silent_p.R303R			Q7Z7B1	PIGW_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class W	303					C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	transferase activity, transferring acyl groups (GO:0016746)			breast(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13		Breast(25;0.00957)|Ovarian(249;0.17)	Kidney(155;0.104)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		ATGCCAACCGCGAAGGAATAA	0.428																																						ENST00000592983.1																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						c.(907-909)cgC>cgT		phosphatidylinositol glycan anchor biosynthesis, class W		C		1,4405	4.2+/-10.8	0,1,2202	79	77	78		909	0.2	1	17		78	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	PIGW	NM_178517.3		0,3,6500	TT,TC,CC		0.0233,0.0227,0.0231		303/505	34893859	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	284098				C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	O-acyltransferase activity	g.chr17:34893859C>T	AB097818	CCDS11313.1	17q21.1	2014-05-06	2006-06-28		ENSG00000184886	ENSG00000277161		"Phosphatidylinositol glycan anchor biosynthesis"	23213	protein-coding gene	gene with protein product		610275	"phosphatidylinositol glycan, class W"			14517336, 12714589	Standard	XM_005257238		Approved	Gwt1, FLJ37433	uc002hmz.1	Q7Z7B1	OTTHUMG00000188438	ENST00000592983.1:c.909C>T	17.37:g.34893859C>T						PIGW_ENST00000328396.2_Silent_p.R303R|MYO19_ENST00000590081.1_Intron	p.R303R			Q7Z7B1	PIGW_HUMAN	Kidney(155;0.104)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)	2	1489	+		Breast(25;0.00957)|Ovarian(249;0.17)	303					Q8N9G3	Silent	SNP	ENST00000592983.1	37	c.909C>T	CCDS11313.1																																																																																				0.428	PIGW-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451318.1	NM_178517		19	60	0	0	0	1	0	19	60					T	34893859	C	T	34893859	2	4	94	1	0	0	0	0	0	0	0	1	11902	755	27	1		1	PIGW	17	34893859	Silent	SNP	C	TCGA-EJ-7782-01A-11D-2114-08	1549284	34893859	46301351	390	5209											
CACNB1	782	broad.mit.edu	37	chr17	37331578	37331579	+	Frame_Shift_Del	DEL	AT	AT	-																															ttgtcggtcagctcttcctcAtagtcttcttcctcgtcctc																								rs374654931		TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr17:37331578_37331579delAT	ENST00000394303.3	-	14	1871_1872	c.1664_1665delAT	c.(1663-1665)tatfs	p.Y555fs	RP5-906A24.2_ENST00000579256.1_RNA	NM_000723.4	NP_000714.3	Q02641	CACB1_HUMAN	calcium channel, voltage-dependent, beta 1 subunit	555					axon guidance (GO:0007411)|protein targeting to membrane (GO:0006612)|transport (GO:0006810)	sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|voltage-gated calcium channel activity (GO:0005245)			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(1)	16					Dronedarone(DB04855)|Ibutilide(DB00308)|Magnesium Sulfate(DB00653)|Nimodipine(DB00393)|Spironolactone(DB00421)|Verapamil(DB00661)	GCTCTTCCTCATAGTCTTCTTC	0.649											OREG0024371	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									Esophageal Squamous(5;100 366 38393 41452 45827)	ENST00000394303.3																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(1)	16						c.(1663-1665)tfs		calcium channel, voltage-dependent, beta 1 subunit	Ibutilide(DB00308)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Verapamil(DB00661)																																			SO:0001589	frameshift_variant	782				axon guidance	voltage-gated calcium channel complex		g.chr17:37331578_37331579delAT		CCDS11334.1, CCDS42311.1, CCDS45665.1	17q21-q22	2013-03-20			ENSG00000067191	ENSG00000067191		"Calcium channel subunits"	1401	protein-coding gene	gene with protein product		114207		CACNLB1		8381767, 8395940	Standard	NM_000723		Approved		uc002hrm.2	Q02641	OTTHUMG00000133217	ENST00000394303.3:c.1664_1665delAT	17.37:g.37331578_37331579delAT	ENSP00000377840:p.Tyr555fs		OREG0024371	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	869	RP5-906A24.2_ENST00000579256.1_RNA	p.Y555fs	NM_000723.4	NP_000714.3	Q02641	CACB1_HUMAN			14	1871_1872	-			555					A8K114|O15331|Q02639|Q02640|Q8N3X9|Q9C085|Q9UD79	Frame_Shift_Del	DEL	ENST00000394303.3	37	c.1664_1665delAT	CCDS42311.1																																																																																				0.649	CACNB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256945.3			10	204						10	204	---	---	---	---	-	37331579	AT	-	37331578	7	5	94	1	0	1	0	1	0	0	0	0	2552	224	8	0	135	0	CACNB1	17	37331578	Frame_Shift_Del	DEL	AT	TCGA-EJ-7782-01A-11D-2114-08	2437719	37331578	43863632	391	5210											
KRT31	3881	broad.mit.edu	37	chr17	39551745	39551745	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	accattgctccacttccctgCggttggtttccaccagggcc	5	11	9	16	1	0	0	0	0	0	0	3	0	3	0	6	3	2	3	6	3	0	4			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr17:39551745C>T	ENST00000251645.2	-	4	771	c.719G>A	c.(718-720)cGc>cAc	p.R240H		NM_002277.2	NP_002268.2	Q15323	K1H1_HUMAN	keratin 31	240	Coil 2.|Rod.				epidermis development (GO:0008544)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural constituent of cytoskeleton (GO:0005200)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	31		Breast(137;0.000496)				CACTTCCCTGCGGTTGGTTTC	0.632																																						ENST00000251645.2																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	31						c.(718-720)cGc>cAc		keratin 31							108	98	102					17																	39551745		2203	4300	6503	SO:0001583	missense	3881				epidermis development	intermediate filament	protein binding|structural constituent of cytoskeleton	g.chr17:39551745C>T	X86570	CCDS11391.1	17q21.2	2014-05-20	2006-07-17	2006-07-17	ENSG00000094796	ENSG00000094796		"-", "Intermediate filaments type I, keratins (acidic)"	6448	protein-coding gene	gene with protein product	"hard keratin type I 1"	601077	"keratin, hair, acidic, 1"	KRTHA1		7578244, 16831889	Standard	NM_002277		Approved	Ha-1	uc002hwn.3	Q15323	OTTHUMG00000133423	ENST00000251645.2:c.719G>A	17.37:g.39551745C>T	ENSP00000251645:p.Arg240His						p.R240H	NM_002277.2	NP_002268.2	Q15323	K1H1_HUMAN			4	771	-		Breast(137;0.000496)	240			Coil 2.|Rod.		Q9UE12	Missense_Mutation	SNP	ENST00000251645.2	37	c.719G>A	CCDS11391.1	.	.	.	.	.	.	.	.	.	.	c	19.71	3.878813	0.72294	.	.	ENSG00000094796	ENST00000251645	D	0.90004	-2.6	5.4	3.39	0.38822	Filament (1);	0.000000	0.64402	D	0.000006	D	0.93808	0.8020	M	0.83483	2.645	0.32462	N	0.543934	D	0.89917	1.0	D	0.87578	0.998	D	0.94073	0.7337	10	0.56958	D	0.05	.	11.2648	0.49104	0.0:0.8507:0.0:0.1493	.	240	Q15323	K1H1_HUMAN	H	240	ENSP00000251645:R240H	ENSP00000251645:R240H	R	-	2	0	KRT31	36805271	0.351000	0.24887	1.000000	0.80357	0.960000	0.62799	0.953000	0.29162	0.632000	0.30432	0.563000	0.77884	CGC		0.632	KRT31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257286.1	NM_002277		23	57	0	0	0	1	0	23	57					T	39551745	C	T	39551745	3	4	94	1	0	0	0	0	1	0	0	0	8467	768	27	1	547	1	KRT31	17	39551745	Missense_Mutation	SNP	C	TCGA-EJ-7782-01A-11D-2114-08	2220167	39551745	41643465	392	5211											
PLEKHM1	9842	broad.mit.edu	37	chr17	43515294	43515294	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcagcccttcttcaccacaGcctggcagctctggtggaag	7	8	12	14	0	3	0	1	0	2	0	3	1	3	1	3	4	3	3	3	4	1	2			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr17:43515294G>A	ENST00000430334.3	-	12	3234	c.3101C>T	c.(3100-3102)gCt>gTt	p.A1034V	PLEKHM1_ENST00000580404.1_5'UTR|PLEKHM1_ENST00000421073.2_Missense_Mutation_p.A945V	NM_014798.2	NP_055613.1	Q9Y4G2	PKHM1_HUMAN	pleckstrin homology domain containing, family M (with RUN domain) member 1	1034					intracellular signal transduction (GO:0035556)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(6)|large_intestine(1)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	26	Renal(3;0.0405)					CTTCACCACAGCCTGGCAGCT	0.647																																						ENST00000430334.3																			0				breast(1)|central_nervous_system(1)|endometrium(6)|large_intestine(1)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	26						c.(3100-3102)gCt>gTt		pleckstrin homology domain containing, family M (with RUN domain) member 1							52	51	51					17																	43515294		2203	4300	6503	SO:0001583	missense	9842				intracellular signal transduction	cytoplasm	metal ion binding	g.chr17:43515294G>A	X85792	CCDS32671.1	17q21.31	2013-01-11				ENSG00000225190		"Pleckstrin homology (PH) domain containing"	29017	protein-coding gene	gene with protein product		611466				9205841, 12820725	Standard	NM_014798		Approved	KIAA0356	uc002ija.3	Q9Y4G2		ENST00000430334.3:c.3101C>T	17.37:g.43515294G>A	ENSP00000389913:p.Ala1034Val					PLEKHM1_ENST00000580404.1_5'UTR|PLEKHM1_ENST00000421073.2_Missense_Mutation_p.A945V	p.A1034V	NM_014798.2	NP_055613.1	Q9Y4G2	PKHM1_HUMAN			12	3234	-	Renal(3;0.0405)		1034					Q6P2R5|Q8TEL9|Q9NPP5|Q9NYA0	Missense_Mutation	SNP	ENST00000430334.3	37	c.3101C>T	CCDS32671.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.059471	0.76074	.	.	ENSG00000225190	ENST00000430334;ENST00000421073	T;T	0.64991	-0.12;-0.13	4.67	3.68	0.42216	Protein kinase C-like, phorbol ester/diacylglycerol binding (2);	0.355818	0.27705	N	0.018189	T	0.51058	0.1652	L	0.42245	1.32	0.41243	D	0.986654	P;P	0.38223	0.57;0.623	B;B	0.35550	0.197;0.205	T	0.49872	-0.8893	10	0.32370	T	0.25	.	12.0837	0.53686	0.0:0.0:0.8274:0.1726	.	945;1034	F8W648;Q9Y4G2	.;PKHM1_HUMAN	V	1034;945	ENSP00000389913:A1034V;ENSP00000414352:A945V	ENSP00000414352:A945V	A	-	2	0	PLEKHM1	40871077	0.216000	0.23585	0.979000	0.43373	0.992000	0.81027	3.071000	0.50041	1.159000	0.42565	0.558000	0.71614	GCT		0.647	PLEKHM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444659.1	NM_014798		4	22	0	0	0	1	0	4	22					A	43515294	G	A	43515294	3	1	94	1	0	0	0	0	1	0	0	0	12080	971	34	3	73	3	PLEKHM1	17	43515294	Missense_Mutation	SNP	G	TCGA-EJ-7782-01A-11D-2114-08	3963549	43515294	37679916	393	5212											
COPZ2	51226	broad.mit.edu	37	chr17	46111238	46111238	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gggacacttactctcagtccGgctggtcttgttgaagacat	8	12	11	10	1	2	2	1	1	2	1	4	3	3	3	1	3	1	2	1	3	2	3			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr17:46111238G>A	ENST00000006101.4	-	4	252	c.253C>T	c.(253-255)Cgg>Tgg	p.R85W	COPZ2_ENST00000584666.1_5'UTR	NM_016429.2	NP_057513.1	Q9P299	COPZ2_HUMAN	coatomer protein complex, subunit zeta 2	87					intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	cis-Golgi network (GO:0005801)|COPI vesicle coat (GO:0030126)				lung(3)|upper_aerodigestive_tract(1)	4						CTCTCAGTCCGGCTGGTCTTG	0.483																																						ENST00000006101.4																			0				lung(3)|upper_aerodigestive_tract(1)	4						c.(253-255)Cgg>Tgg		coatomer protein complex, subunit zeta 2							82	85	84					17																	46111238		2032	4198	6230	SO:0001583	missense	51226				intracellular protein transport|vesicle-mediated transport	cis-Golgi network|COPI vesicle coat		g.chr17:46111238G>A	AB037938	CCDS74092.1	17q21.2	2008-07-18				ENSG00000005243			19356	protein-coding gene	gene with protein product	"nonclathrin coat protein zeta-COP", "zeta2-COP", "zeta-2 coat protein"	615526				11056392	Standard	NM_016429		Approved	MGC23008	uc002imy.3	Q9P299		ENST00000006101.4:c.253C>T	17.37:g.46111238G>A	ENSP00000006101:p.Arg85Trp					COPZ2_ENST00000584666.1_5'UTR	p.R85W	NM_016429.2	NP_057513.1	Q9P299	COPZ2_HUMAN			4	252	-			87						Missense_Mutation	SNP	ENST00000006101.4	37	c.253C>T		.	.	.	.	.	.	.	.	.	.	G	10.45	1.352878	0.24512	.	.	ENSG00000005243	ENST00000006101	.	.	.	5.59	2.31	0.28768	Longin-like (1);AP complex, mu/sigma subunit (1);	0.070241	0.53938	D	0.000045	T	0.75391	0.3843	M	0.81239	2.535	0.40033	D	0.975554	D	0.76494	0.999	D	0.71656	0.974	T	0.78028	-0.2364	9	0.87932	D	0	-13.7446	8.8254	0.35052	0.074:0.0:0.5668:0.3593	.	87	Q9P299	COPZ2_HUMAN	W	85	.	ENSP00000006101:R85W	R	-	1	2	COPZ2	43466237	0.997000	0.39634	0.999000	0.59377	0.549000	0.35272	1.575000	0.36493	1.339000	0.45563	0.643000	0.83706	CGG		0.483	COPZ2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_016429		3	13	0	0	0	1	0	3	13					A	46111238	G	A	46111238	3	1	94	1	0	0	0	0	1	0	0	0	3742	1115	39	2	401	2	COPZ2	17	46111238	Missense_Mutation	SNP	G	TCGA-EJ-7782-01A-11D-2114-08	2595944	46111238	35083972	394	5213											
SPOP	8405	broad.mit.edu	37	chr17	47677762	47677762	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aggattgcttcaggcgtttgCgtgggggtcccagaaaaggg	8	9	17	7	2	1	1	1	0	0	1	2	2	2	2	1	5	2	2	1	5	2	3			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr17:47677762C>T	ENST00000393328.2	-	11	1468	c.1103G>A	c.(1102-1104)cGc>cAc	p.R368H	SPOP_ENST00000504102.1_Missense_Mutation_p.R368H|SPOP_ENST00000503676.1_Missense_Mutation_p.R368H|SPOP_ENST00000347630.2_Missense_Mutation_p.R368H|SPOP_ENST00000393331.3_Missense_Mutation_p.R368H	NM_003563.3	NP_003554.1	O43791	SPOP_HUMAN	speckle-type POZ protein	368					glucose homeostasis (GO:0042593)|positive regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902237)|positive regulation of type B pancreatic cell apoptotic process (GO:2000676)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	Cul3-RING ubiquitin ligase complex (GO:0031463)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	ubiquitin protein ligase binding (GO:0031625)			endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						CAGGCGTTTGCGTGGGGGTCC	0.542										Prostate(2;0.17)																												ENST00000393331.3																			0				endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						c.(1102-1104)cGc>cAc		speckle-type POZ protein							189	196	194					17																	47677762		2203	4300	6503	SO:0001583	missense	8405				mRNA processing	nucleus	protein binding	g.chr17:47677762C>T	AJ000644	CCDS11551.1	17q21.33	2013-01-09			ENSG00000121067	ENSG00000121067		"BTB/POZ domain containing"	11254	protein-coding gene	gene with protein product		602650				9414087	Standard	NM_001007227		Approved	TEF2, BTBD32	uc002ipg.3	O43791	OTTHUMG00000161496	ENST00000393328.2:c.1103G>A	17.37:g.47677762C>T	ENSP00000377001:p.Arg368His	Prostate(2;0.17)				SPOP_ENST00000504102.1_Missense_Mutation_p.R368H|SPOP_ENST00000503676.1_Missense_Mutation_p.R368H|SPOP_ENST00000393328.2_Missense_Mutation_p.R368H|SPOP_ENST00000347630.2_Missense_Mutation_p.R368H	p.R368H	NM_001007226.1|NM_001007227.1	NP_001007227.1|NP_001007228.1	O43791	SPOP_HUMAN			12	1573	-			368					B2R6S3|D3DTW7|Q53HJ1	Missense_Mutation	SNP	ENST00000393328.2	37	c.1103G>A	CCDS11551.1	.	.	.	.	.	.	.	.	.	.	C	17.18	3.323239	0.60634	.	.	ENSG00000121067	ENST00000393328;ENST00000393331;ENST00000347630;ENST00000504102;ENST00000503536;ENST00000503676;ENST00000513872	T;T;T;T;T	0.71461	-0.57;-0.57;-0.57;-0.57;-0.57	5.65	5.65	0.86999	.	0.116138	0.64402	D	0.000003	T	0.74794	0.3763	M	0.86028	2.79	0.80722	D	1	B	0.25667	0.131	B	0.18561	0.022	T	0.71170	-0.4671	10	0.31617	T	0.26	1.2459	19.5069	0.95121	0.0:1.0:0.0:0.0	.	368	O43791	SPOP_HUMAN	H	368;368;368;368;252;368;321	ENSP00000377001:R368H;ENSP00000377004:R368H;ENSP00000240327:R368H;ENSP00000425905:R368H;ENSP00000420908:R368H	ENSP00000240327:R368H	R	-	2	0	SPOP	45032761	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.505000	0.81655	2.941000	0.99782	0.655000	0.94253	CGC		0.542	SPOP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365154.2	NM_003563		10	162	0	0	0	1	0	10	162					T	47677762	C	T	47677762	3	4	94	1	0	0	0	0	1	0	0	0	15083	768	27	1	25	1	SPOP	17	47677762	Missense_Mutation	SNP	C	TCGA-EJ-7782-01A-11D-2114-08	1566524	47677762	33517448	395	5214											
SPOP	8405	broad.mit.edu	37	chr17	47696426	47696426	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tctacggatgaatttcttgaAtccccagtctttgccttgca	8	15	7	11	1	3	2	0	2	3	0	4	3	4	3	3	1	3	1	3	1	3	5			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr17:47696426A>C	ENST00000393328.2	-	6	762	c.397T>G	c.(397-399)Ttc>Gtc	p.F133V	SPOP_ENST00000504102.1_Missense_Mutation_p.F133V|SPOP_ENST00000513080.1_5'Flank|SPOP_ENST00000503676.1_Missense_Mutation_p.F133V|SPOP_ENST00000347630.2_Missense_Mutation_p.F133V|SPOP_ENST00000393331.3_Missense_Mutation_p.F133V	NM_003563.3	NP_003554.1	O43791	SPOP_HUMAN	speckle-type POZ protein	133	Important for binding substrate proteins.|MATH. {ECO:0000255|PROSITE- ProRule:PRU00129}.|Required for nuclear localization.				glucose homeostasis (GO:0042593)|positive regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902237)|positive regulation of type B pancreatic cell apoptotic process (GO:2000676)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	Cul3-RING ubiquitin ligase complex (GO:0031463)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	ubiquitin protein ligase binding (GO:0031625)	p.F133V(4)		endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						AATTTCTTGAATCCCCAGTCT	0.448										Prostate(2;0.17)																												ENST00000393331.3																			4	Substitution - Missense(4)	p.F133V(4)	prostate(4)	endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						c.(397-399)Ttc>Gtc		speckle-type POZ protein							119	121	120					17																	47696426		2203	4300	6503	SO:0001583	missense	8405				mRNA processing	nucleus	protein binding	g.chr17:47696426A>C	AJ000644	CCDS11551.1	17q21.33	2013-01-09			ENSG00000121067	ENSG00000121067		"BTB/POZ domain containing"	11254	protein-coding gene	gene with protein product		602650				9414087	Standard	NM_001007227		Approved	TEF2, BTBD32	uc002ipg.3	O43791	OTTHUMG00000161496	ENST00000393328.2:c.397T>G	17.37:g.47696426A>C	ENSP00000377001:p.Phe133Val	Prostate(2;0.17)				SPOP_ENST00000504102.1_Missense_Mutation_p.F133V|SPOP_ENST00000503676.1_Missense_Mutation_p.F133V|SPOP_ENST00000393328.2_Missense_Mutation_p.F133V|SPOP_ENST00000347630.2_Missense_Mutation_p.F133V	p.F133V	NM_001007226.1|NM_001007227.1	NP_001007227.1|NP_001007228.1	O43791	SPOP_HUMAN			7	867	-			133			MATH.|Required for nuclear localization.		B2R6S3|D3DTW7|Q53HJ1	Missense_Mutation	SNP	ENST00000393328.2	37	c.397T>G	CCDS11551.1	.	.	.	.	.	.	.	.	.	.	A	24.6	4.550963	0.86127	.	.	ENSG00000121067	ENST00000393328;ENST00000393331;ENST00000347630;ENST00000504102;ENST00000503536;ENST00000503676;ENST00000513872;ENST00000509079;ENST00000505581;ENST00000507970;ENST00000514121	T;T;T;T;T;T;T;T;T	0.42513	0.97;0.97;0.97;0.97;0.97;0.97;0.97;0.97;0.97	5.41	5.41	0.78517	TRAF-type (1);TRAF-like (1);MATH (3);	0.000000	0.85682	D	0.000000	T	0.68632	0.3022	M	0.94021	3.485	0.80722	D	1	P	0.35155	0.487	P	0.49637	0.617	T	0.74861	-0.3520	10	0.66056	D	0.02	-9.6576	15.258	0.73599	1.0:0.0:0.0:0.0	.	133	O43791	SPOP_HUMAN	V	133;133;133;133;17;133;86;133;133;133;133	ENSP00000377001:F133V;ENSP00000377004:F133V;ENSP00000240327:F133V;ENSP00000425905:F133V;ENSP00000420908:F133V;ENSP00000426986:F133V;ENSP00000420960:F133V;ENSP00000426262:F133V;ENSP00000424119:F133V	ENSP00000240327:F133V	F	-	1	0	SPOP	45051425	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.131000	0.94446	2.261000	0.74972	0.460000	0.39030	TTC		0.448	SPOP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365154.2	NM_003563		35	68	0	0	0	1	0	35	68					C	47696426	A	C	47696426	3	2	94	1	0	0	0	0	1	0	0	0	15083	101	4	5	751	5	SPOP	17	47696426	Missense_Mutation	SNP	A	TCGA-EJ-7782-01A-11D-2114-08	18664	47696426	33498784	396	5215											
XYLT2	64132	broad.mit.edu	37	chr17	48437450	48437450	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgcggaggaggctgcccagcGgcacacacagctcacaggcc	9	2	14	16	3	1	0	1	0	0	0	1	2	1	2	2	5	3	3	2	5	0	0	rs150470450		TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr17:48437450G>A	ENST00000017003.2	+	11	2445	c.2396G>A	c.(2395-2397)cGg>cAg	p.R799Q	XYLT2_ENST00000507602.1_Intron	NM_022167.2	NP_071450.2	Q9H1B5	XYLT2_HUMAN	xylosyltransferase II	799					chondroitin sulfate biosynthetic process (GO:0030206)|glycosaminoglycan biosynthetic process (GO:0006024)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparin biosynthetic process (GO:0030210)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	acetylglucosaminyltransferase activity (GO:0008375)|protein xylosyltransferase activity (GO:0030158)			endometrium(2)|kidney(2)|large_intestine(4)|pancreas(1)|prostate(2)|urinary_tract(1)	12	Breast(11;7.18e-19)					GCTGCCCAGCGGCACACACAG	0.652																																						ENST00000017003.2																			0				endometrium(2)|kidney(2)|large_intestine(4)|pancreas(1)|prostate(2)|urinary_tract(1)	12						c.(2395-2397)cGg>cAg		xylosyltransferase II		G	GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	53	43	46		2396	-2.2	0	17	dbSNP_134	46	0,8598		0,0,4299	no	missense	XYLT2	NM_022167.2	43	0,1,6501	AA,AG,GG		0.0,0.0227,0.0077	benign	799/866	48437450	1,13003	2203	4299	6502	SO:0001583	missense	64132				glycosaminoglycan biosynthetic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity	g.chr17:48437450G>A	AJ277442	CCDS11563.1	17q21.33	2013-02-25			ENSG00000015532	ENSG00000015532	2.4.2.26		15517	protein-coding gene	gene with protein product	"protein xylosyltransferase 2"	608125				11099377	Standard	NM_022167		Approved	XT-II, PXYLT2	uc002iqo.3	Q9H1B5	OTTHUMG00000162057	ENST00000017003.2:c.2396G>A	17.37:g.48437450G>A	ENSP00000017003:p.Arg799Gln					XYLT2_ENST00000507602.1_Intron	p.R799Q	NM_022167.2	NP_071450.2	Q9H1B5	XYLT2_HUMAN			11	2445	+	Breast(11;7.18e-19)		799					Q6UY41|Q86V00	Missense_Mutation	SNP	ENST00000017003.2	37	c.2396G>A	CCDS11563.1	.	.	.	.	.	.	.	.	.	.	G	3.087	-0.187756	0.06299	2.27E-4	0.0	ENSG00000015532	ENST00000017003	T	0.04275	3.66	4.99	-2.25	0.06888	.	0.363503	0.28114	N	0.016544	T	0.03651	0.0104	L	0.46157	1.445	0.09310	N	1	B	0.10296	0.003	B	0.06405	0.002	T	0.41662	-0.9496	10	0.22109	T	0.4	-6.5881	5.1842	0.15176	0.3938:0.0:0.3886:0.2176	.	799	Q9H1B5	XYLT2_HUMAN	Q	799	ENSP00000017003:R799Q	ENSP00000017003:R799Q	R	+	2	0	XYLT2	45792449	0.000000	0.05858	0.040000	0.18447	0.006000	0.05464	0.274000	0.18680	-0.558000	0.06118	-0.982000	0.02568	CGG		0.652	XYLT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367046.1	NM_022167		5	11	0	0	0	1	0	5	11					A	48437450	G	A	48437450	3	1	94	1	0	0	0	0	1	0	0	0	17461	1116	39	2	2438	2	XYLT2	17	48437450	Missense_Mutation	SNP	G	TCGA-EJ-7782-01A-11D-2114-08	741024	48437450	32757760	397	5216											
CACNA1G	8913	broad.mit.edu	37	chr17	48703836	48703836	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	caaccccacctgggcacagaCccctctaaccttgggggcca	9	5	9	18	0	1	1	0	0	1	1	1	1	1	1	7	3	2	1	7	3	2	2			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr17:48703836C>T	ENST00000359106.5	+	38	6858	c.6858C>T	c.(6856-6858)gaC>gaT	p.D2286D	CACNA1G_ENST00000360761.4_Silent_p.D2170D|CACNA1G_ENST00000515765.1_Silent_p.D2230D|CACNA1G_ENST00000510115.1_Silent_p.D2207D|CACNA1G_ENST00000505165.1_Silent_p.D2114D|CACNA1G_ENST00000507510.2_Silent_p.D2241D|CACNA1G_ENST00000515165.1_Silent_p.D2193D|CACNA1G_ENST00000507896.1_Silent_p.D2103D|CACNA1G_ENST00000503485.1_Silent_p.D2159D|CACNA1G_ENST00000429973.2_Silent_p.D2175D|CACNA1G_ENST00000358244.5_Silent_p.D2080D|CACNA1G_ENST00000513964.1_Silent_p.D2148D|CACNA1G_ENST00000510366.1_Silent_p.D2141D|CACNA1G_ENST00000502264.1_Silent_p.D2215D|CACNA1G_ENST00000514717.1_Silent_p.D2136D|CACNA1G_ENST00000507609.1_Silent_p.D2186D|CACNA1G_ENST00000513689.2_Silent_p.D2196D|CTB-22K21.2_ENST00000502435.1_RNA|CACNA1G_ENST00000442258.2_Silent_p.D2152D|CACNA1G_ENST00000507336.1_Silent_p.D2275D|CACNA1G_ENST00000354983.4_Silent_p.D2252D|CACNA1G_ENST00000514079.1_Silent_p.D2200D|CACNA1G_ENST00000514181.1_Silent_p.D2168D|CACNA1G_ENST00000512389.1_Silent_p.D2182D|CACNA1G_ENST00000515411.1_Silent_p.D2223D|CACNA1G_ENST00000352832.5_Silent_p.D2159D	NM_018896.4	NP_061496.2	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit	2286					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|membrane depolarization during action potential (GO:0086010)|positive regulation of calcium ion-dependent exocytosis (GO:0045956)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of heart rate (GO:0002027)|regulation of membrane potential (GO:0042391)|response to nickel cation (GO:0010045)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	low voltage-gated calcium channel activity (GO:0008332)|scaffold protein binding (GO:0097110)			breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Cinnarizine(DB00568)|Ethosuximide(DB00593)|Flunarizine(DB04841)|Methsuximide(DB05246)|Spironolactone(DB00421)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	TGGGCACAGACCCCTCTAACC	0.657											OREG0024569	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000352832.5																			0				breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47						c.(6475-6477)gaC>gaT		calcium channel, voltage-dependent, T type, alpha 1G subunit	Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)						10	14	13					17																	48703836		1888	4079	5967	SO:0001819	synonymous_variant	8913				axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity	g.chr17:48703836C>T	AC004590	CCDS45730.1, CCDS45731.1, CCDS45732.1, CCDS45733.1, CCDS45734.1, CCDS45735.1, CCDS45736.1, CCDS45737.1, CCDS54142.1, CCDS54143.1, CCDS54144.1, CCDS54145.1, CCDS54146.1, CCDS58565.1, CCDS58566.1, CCDS58567.1, CCDS58568.1, CCDS58569.1, CCDS58570.1, CCDS58571.1, CCDS58572.1, CCDS58573.1, CCDS58574.1, CCDS58575.1, CCDS58576.1	17q22	2012-03-07	2007-02-16		ENSG00000006283	ENSG00000006283		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1394	protein-coding gene	gene with protein product		604065				9495342, 16382099	Standard	NM_001256334		Approved	Cav3.1, NBR13	uc002irk.2	O43497	OTTHUMG00000162180	ENST00000359106.5:c.6858C>T	17.37:g.48703836C>T			OREG0024569	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	956	CACNA1G_ENST00000359106.5_Silent_p.D2286D|CACNA1G_ENST00000354983.4_Silent_p.D2252D|CACNA1G_ENST00000505165.1_Silent_p.D2114D|CACNA1G_ENST00000360761.4_Silent_p.D2170D|CACNA1G_ENST00000515411.1_Silent_p.D2223D|CACNA1G_ENST00000515165.1_Silent_p.D2193D|CACNA1G_ENST00000514181.1_Silent_p.D2168D|CACNA1G_ENST00000502264.1_Silent_p.D2215D|CACNA1G_ENST00000514717.1_Silent_p.D2136D|CACNA1G_ENST00000514079.1_Silent_p.D2200D|CACNA1G_ENST00000358244.5_Silent_p.D2080D|CACNA1G_ENST00000507336.1_Silent_p.D2275D|CACNA1G_ENST00000503485.1_Silent_p.D2159D|CACNA1G_ENST00000513964.1_Silent_p.D2148D|CACNA1G_ENST00000513689.2_Silent_p.D2196D|CACNA1G_ENST00000510366.1_Silent_p.D2141D|CACNA1G_ENST00000512389.1_Silent_p.D2182D|CACNA1G_ENST00000510115.1_Silent_p.D2207D|CACNA1G_ENST00000442258.2_Silent_p.D2152D|CACNA1G_ENST00000515765.1_Silent_p.D2230D|CACNA1G_ENST00000507896.1_Silent_p.D2103D|CACNA1G_ENST00000429973.2_Silent_p.D2175D|CACNA1G_ENST00000507510.2_Silent_p.D2241D|CACNA1G_ENST00000507609.1_Silent_p.D2186D	p.D2159D	NM_001256334.1|NM_198376.2|NM_198379.2|NM_198387.2|NM_198388.2	NP_001243263.1|NP_938190.1|NP_938193.1|NP_938201.1|NP_938202.1	O43497	CAC1G_HUMAN	BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		34	6849	+	Breast(11;6.7e-17)		2286					D6RA64|E7EPR0|O43498|O94770|Q19QY8|Q19QY9|Q19QZ0|Q19QZ1|Q19QZ2|Q19QZ3|Q19QZ4|Q19QZ5|Q19QZ6|Q19QZ7|Q19QZ8|Q19QZ9|Q19R00|Q19R01|Q19R02|Q19R03|Q19R04|Q19R05|Q19R06|Q19R07|Q19R08|Q19R09|Q19R10|Q19R11|Q19R12|Q19R13|Q19R15|Q19R16|Q19R17|Q19R18|Q2TAC4|Q9NYU4|Q9NYU5|Q9NYU6|Q9NYU7|Q9NYU8|Q9NYU9|Q9NYV0|Q9NYV1|Q9UHN9|Q9UHP0|Q9ULU6|Q9UNG7|Q9Y5T2|Q9Y5T3	Silent	SNP	ENST00000359106.5	37	c.6477C>T	CCDS45730.1																																																																																				0.657	CACNA1G-013	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000367895.1	NM_018896		4	9	0	0	0	1	0	4	9					T	48703836	C	T	48703836	2	4	94	1	0	0	0	0	0	0	0	1	2544	506	18	3		3	CACNA1G	17	48703836	Silent	SNP	C	TCGA-EJ-7782-01A-11D-2114-08	266386	48703836	32491374	398	5217											
AKAP1	8165	broad.mit.edu	37	chr17	55183676	55183676	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agagctggcaaaggacgatgCggcgccagcacccccagtcg	10	3	14	14	4	0	1	0	0	0	1	1	3	0	2	3	3	3	3	3	3	1	0			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr17:55183676C>T	ENST00000337714.3	+	2	1084	c.851C>T	c.(850-852)gCg>gTg	p.A284V	AKAP1_ENST00000572557.1_Missense_Mutation_p.A284V|AKAP1_ENST00000314126.3_Missense_Mutation_p.A284V|AKAP1_ENST00000539273.1_Missense_Mutation_p.A284V|AKAP1_ENST00000571629.1_Missense_Mutation_p.A284V	NM_003488.3	NP_003479.1	Q92667	AKAP1_HUMAN	A kinase (PRKA) anchor protein 1	284					blood coagulation (GO:0007596)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(2)|liver(1)|lung(7)|ovary(2)|pancreas(1)|skin(1)	14	Breast(9;5.46e-08)					AAGGACGATGCGGCGCCAGCA	0.582																																						ENST00000337714.3																			0				endometrium(2)|liver(1)|lung(7)|ovary(2)|pancreas(1)|skin(1)	14						c.(850-852)gCg>gTg		A kinase (PRKA) anchor protein 1							92	92	92					17																	55183676		2203	4300	6503	SO:0001583	missense	8165				blood coagulation	cytosol|integral to membrane|mitochondrial outer membrane	protein binding|RNA binding	g.chr17:55183676C>T	X97335	CCDS11594.1	17q22	2013-01-23			ENSG00000121057	ENSG00000121057		"A-kinase anchor proteins", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "Tudor domain containing"	367	protein-coding gene	gene with protein product	"protein kinase anchoring protein 1", "dual specificity A-kinase-anchoring protein 1", "protein phosphatase 1, regulatory subunit 43", "tudor domain containing 17"	602449		PRKA1		8769136, 7499250	Standard	NM_003488		Approved	AKAP121, AKAP149, SAKAP84, S-AKAP84, AKAP84, D-AKAP1, PPP1R43, TDRD17	uc002iux.3	Q92667	OTTHUMG00000140369	ENST00000337714.3:c.851C>T	17.37:g.55183676C>T	ENSP00000337736:p.Ala284Val					AKAP1_ENST00000571629.1_Missense_Mutation_p.A284V|AKAP1_ENST00000314126.3_Missense_Mutation_p.A284V|AKAP1_ENST00000572557.1_Missense_Mutation_p.A284V|AKAP1_ENST00000539273.1_Missense_Mutation_p.A284V	p.A284V	NM_003488.3	NP_003479.1	Q92667	AKAP1_HUMAN			2	1084	+	Breast(9;5.46e-08)		284					A8K8Q1|D3DTZ0|Q13320|Q9BW14	Missense_Mutation	SNP	ENST00000337714.3	37	c.851C>T	CCDS11594.1	.	.	.	.	.	.	.	.	.	.	c	11.15	1.554035	0.27739	.	.	ENSG00000121057	ENST00000337714;ENST00000314126;ENST00000427138;ENST00000539273	T;T;T	0.18338	2.5;2.22;2.5	5.18	0.0441	0.14224	.	0.750628	0.13203	N	0.405776	T	0.05410	0.0143	N	0.08118	0	0.09310	N	1	P	0.37158	0.585	B	0.27262	0.078	T	0.30995	-0.9959	10	0.31617	T	0.26	-8.3841	2.9972	0.06002	0.5127:0.2817:0.0748:0.1308	.	284	Q92667	AKAP1_HUMAN	V	284;284;326;284	ENSP00000337736:A284V;ENSP00000314075:A284V;ENSP00000443139:A284V	ENSP00000314075:A284V	A	+	2	0	AKAP1	52538675	0.003000	0.15002	0.000000	0.03702	0.001000	0.01503	1.078000	0.30754	-0.296000	0.08947	-1.612000	0.00800	GCG		0.582	AKAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277069.1			16	71	0	0	0	1	0	16	71					T	55183676	C	T	55183676	3	4	94	1	0	0	0	0	1	0	0	0	445	768	27	1	853	1	AKAP1	17	55183676	Missense_Mutation	SNP	C	TCGA-EJ-7782-01A-11D-2114-08	6479840	55183676	26011534	399	5218											
RNF43	54894	broad.mit.edu	37	chr17	56435189	56435189	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccttttcctctgtgggtgtcGggcagagaggctggattttt	4	15	14	8	1	1	1	0	0	1	1	3	3	2	2	2	4	0	2	2	4	0	4	rs371553160		TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr17:56435189G>A	ENST00000584437.1	-	8	3903	c.1948C>T	c.(1948-1950)Cga>Tga	p.R650*	RNF43_ENST00000581868.1_Nonsense_Mutation_p.R523*|RNF43_ENST00000577716.1_Nonsense_Mutation_p.R650*|RNF43_ENST00000577625.1_Nonsense_Mutation_p.R523*|RNF43_ENST00000500597.2_Nonsense_Mutation_p.R609*|BZRAP1-AS1_ENST00000583841.1_RNA|RNF43_ENST00000583753.1_Nonsense_Mutation_p.R609*|RNF43_ENST00000407977.2_Nonsense_Mutation_p.R650*			Q68DV7	RNF43_HUMAN	ring finger protein 43	650	Pro-rich.				negative regulation of Wnt signaling pathway (GO:0030178)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|stem cell proliferation (GO:0072089)|Wnt receptor catabolic process (GO:0038018)|Wnt signaling pathway (GO:0016055)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)	frizzled binding (GO:0005109)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.R650*(1)		NS(1)|biliary_tract(5)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(14)|lung(9)|ovary(2)|pancreas(10)|prostate(1)|skin(4)	60	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TGTGGGTGTCGGGCAGAGAGG	0.637																																						ENST00000584437.1																			1	Substitution - Nonsense(1)	p.R650*(1)	central_nervous_system(1)	NS(1)|biliary_tract(5)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(14)|lung(9)|ovary(2)|pancreas(10)|prostate(1)|skin(4)	60						c.(1948-1950)Cga>Tga		ring finger protein 43		G	stop/ARG	0,4400		0,0,2200	68	79	75		1948	3.7	0.8	17		75	1,8587	1.2+/-3.3	0,1,4293	no	stop-gained	RNF43	NM_017763.4		0,1,6493	AA,AG,GG		0.0116,0.0,0.0077		650/784	56435189	1,12987	2200	4294	6494	SO:0001587	stop_gained	54894					endoplasmic reticulum membrane|integral to membrane|nuclear envelope	ligase activity|protein binding|zinc ion binding	g.chr17:56435189G>A		CCDS11607.1	17q23.2	2013-01-09						"RING-type (C3HC4) zinc fingers"	18505	protein-coding gene	gene with protein product		612482					Standard	NM_017763		Approved	FLJ20315, DKFZp781H0392, URCC	uc002iwh.4	Q68DV7		ENST00000584437.1:c.1948C>T	17.37:g.56435189G>A	ENSP00000463069:p.Arg650*					RNF43_ENST00000407977.2_Nonsense_Mutation_p.R650*|RNF43_ENST00000577716.1_Nonsense_Mutation_p.R650*|RNF43_ENST00000581868.1_Nonsense_Mutation_p.R523*|RNF43_ENST00000583753.1_Nonsense_Mutation_p.R609*|RNF43_ENST00000577625.1_Nonsense_Mutation_p.R523*|RNF43_ENST00000500597.2_Nonsense_Mutation_p.R609*|BZRAP1-AS1_ENST00000583841.1_RNA	p.R650*			Q68DV7	RNF43_HUMAN			8	3903	-	Medulloblastoma(34;0.127)|all_neural(34;0.237)		650			Pro-rich.		A8K4R2|B7Z443|B7Z5D5|B7Z5J5|Q65ZA4|Q6AI04|Q9NXD0	Nonsense_Mutation	SNP	ENST00000584437.1	37	c.1948C>T	CCDS11607.1	.	.	.	.	.	.	.	.	.	.	G	41	8.740716	0.98935	0.0	1.16E-4	ENSG00000108375	ENST00000407977;ENST00000500597	.	.	.	4.66	3.66	0.41972	.	0.405180	0.18473	N	0.140168	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-15.3214	9.5781	0.39470	0.0:0.0:0.7814:0.2186	.	.	.	.	X	650;609	.	ENSP00000385328:R650X	R	-	1	2	RNF43	53790188	0.998000	0.40836	0.807000	0.32361	0.427000	0.31564	3.077000	0.50089	1.117000	0.41842	0.205000	0.17691	CGA		0.637	RNF43-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444713.1	NM_017763		32	72	0	0	0	1	0	32	72					A	56435189	G	A	56435189	4	1	94	1	0	0	0	0	0	1	0	0	13495	1124	39	2	411	2	RNF43	17	56435189	Nonsense_Mutation	SNP	G	TCGA-EJ-7782-01A-11D-2114-08	1251513	56435189	24760021	400	5219											
LIMD2	80774	broad.mit.edu	37	chr17	61776417	61776417	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcaccgtgctgctgccgcCgcctttggcgtcctgaggga	3	9	14	15	4	0	1	0	1	0	0	1	2	1	2	5	2	4	3	5	2	0	1	rs199625729		TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr17:61776417C>T	ENST00000259006.3	-	3	213	c.55G>A	c.(55-57)Ggc>Agc	p.G19S	LIMD2_ENST00000582055.1_5'UTR|LIMD2_ENST00000578402.1_Missense_Mutation_p.G19S|LIMD2_ENST00000578993.1_Missense_Mutation_p.G19S|LIMD2_ENST00000578061.1_Missense_Mutation_p.G19S|LIMD2_ENST00000583211.1_5'UTR	NM_030576.3	NP_085053.1	Q9BT23	LIMD2_HUMAN	LIM domain containing 2	19							zinc ion binding (GO:0008270)			kidney(1)|lung(2)	3						CTGCTGCCGCCGCCTTTGGCG	0.736													C|||	1	0.000199681	0	0	5008	,	,		10980	0		0.001	False		,,,				2504	0					ENST00000259006.3																			0				kidney(1)|lung(2)	3						c.(55-57)Ggc>Agc		LIM domain containing 2		C	SER/GLY	1,4277		0,1,2138	9	12	11		55	-4.9	0.1	17		11	12,8396		0,12,4192	no	missense	LIMD2	NM_030576.3	56	0,13,6330	TT,TC,CC		0.1427,0.0234,0.1025	benign	19/128	61776417	13,12673	2139	4204	6343	SO:0001583	missense	80774						zinc ion binding	g.chr17:61776417C>T	AK092301	CCDS11641.1	17q23.3	2006-02-03				ENSG00000136490			28142	protein-coding gene	gene with protein product						12477932	Standard	NM_030576		Approved	MGC10986	uc002jbj.4	Q9BT23		ENST00000259006.3:c.55G>A	17.37:g.61776417C>T	ENSP00000259006:p.Gly19Ser					LIMD2_ENST00000583211.1_5'UTR|LIMD2_ENST00000582055.1_5'UTR|LIMD2_ENST00000578061.1_Missense_Mutation_p.G19S|LIMD2_ENST00000578402.1_Missense_Mutation_p.G19S|LIMD2_ENST00000578993.1_Missense_Mutation_p.G19S	p.G19S	NM_030576.3	NP_085053.1	Q9BT23	LIMD2_HUMAN			3	213	-			19					D3DU16|Q96S91	Missense_Mutation	SNP	ENST00000259006.3	37	c.55G>A	CCDS11641.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	0.041	-1.283506	0.01398	2.34E-4	0.001427	ENSG00000136490	ENST00000259006	T	0.75367	-0.93	4.33	-4.88	0.03113	.	0.543405	0.17516	N	0.171426	T	0.37571	0.1008	N	0.01874	-0.695	0.49915	D	0.999837	B	0.06786	0.001	B	0.01281	0.0	T	0.42413	-0.9453	10	0.02654	T	1	-15.4788	11.5615	0.50780	0.0:0.2608:0.0:0.7392	.	19	Q9BT23	LIMD2_HUMAN	S	19	ENSP00000259006:G19S	ENSP00000259006:G19S	G	-	1	0	LIMD2	59130149	0.000000	0.05858	0.073000	0.20177	0.373000	0.29922	-0.162000	0.10012	-1.171000	0.02765	-0.448000	0.05591	GGC		0.736	LIMD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443877.1	NM_030576		3	16	0	0	0	1	0	3	16					T	61776417	C	T	61776417	3	4	94	1	0	0	0	0	1	0	0	0	8799	652	23	2	340	2	LIMD2	17	61776417	Missense_Mutation	SNP	C	TCGA-EJ-7782-01A-11D-2114-08	5341228	61776417	19418793	401	5220											
POLG2	11232	broad.mit.edu	37	chr17	62492847	62492847	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctaagctgctgcttgcttccActtaggaaatgccttctctg	7	14	8	12	0	1	0	0	0	1	0	3	1	2	1	2	1	5	4	2	1	3	5			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr17:62492847A>G	ENST00000539111.2	-	1	307	c.240T>C	c.(238-240)agT>agC	p.S80S		NM_007215.3	NP_009146.2	Q9UHN1	DPOG2_HUMAN	polymerase (DNA directed), gamma 2, accessory subunit	80					DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA-dependent DNA replication (GO:0006261)	extracellular vesicular exosome (GO:0070062)|mitochondrial chromosome (GO:0000262)|mitochondrial nucleoid (GO:0042645)	DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(4)|skin(2)|stomach(1)|urinary_tract(1)	15	Breast(5;2.15e-14)		BRCA - Breast invasive adenocarcinoma(8;4.97e-11)			GCTTGCTTCCACTTAGGAAAT	0.612																																					Colon(3;18 21 435 17652 48887)	ENST00000539111.2																			0				central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(4)|skin(2)|stomach(1)|urinary_tract(1)	15						c.(238-240)agT>agC		polymerase (DNA directed), gamma 2, accessory subunit							92	93	93					17																	62492847		2203	4300	6503	SO:0001819	synonymous_variant	11232				DNA repair|DNA-dependent DNA replication|glycyl-tRNA aminoacylation	mitochondrial chromosome	ATP binding|DNA-directed DNA polymerase activity|glycine-tRNA ligase activity|identical protein binding|single-stranded DNA binding	g.chr17:62492847A>G	U94703	CCDS32706.1	17q23.3	2012-05-18			ENSG00000256525	ENSG00000256525		"DNA polymerases"	9180	protein-coding gene	gene with protein product		604983				9153213	Standard	NM_007215		Approved	MTPOLB, HP55	uc002jei.3	Q9UHN1		ENST00000539111.2:c.240T>C	17.37:g.62492847A>G							p.S80S	NM_007215.3	NP_009146.2	Q9UHN1	DPOG2_HUMAN	BRCA - Breast invasive adenocarcinoma(8;4.97e-11)		1	307	-	Breast(5;2.15e-14)		80					O00419|Q0IJ81|Q96GW2|Q9UK35|Q9UK94	Silent	SNP	ENST00000539111.2	37	c.240T>C	CCDS32706.1																																																																																				0.612	POLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443820.1	NM_007215		22	62	0	0	0	1	0	22	62					G	62492847	A	G	62492847	2	3	94	1	0	0	0	0	0	0	0	1	12201	156	6	4		4	POLG2	17	62492847	Silent	SNP	A	TCGA-EJ-7782-01A-11D-2114-08	716430	62492847	18702363	402	5221											
FDXR	2232	broad.mit.edu	37	chr17	72860461	72860461	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgtcagccgcttcctcgggcGggggacctctgtcagcaacg	5	7	14	15	5	3	0	2	0	1	0	5	1	4	1	3	3	3	2	3	3	1	1	rs571003894		TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr17:72860461G>A	ENST00000293195.5	-	9	889	c.811C>T	c.(811-813)Cgc>Tgc	p.R271C	FDXR_ENST00000420580.2_Missense_Mutation_p.R231C|FDXR_ENST00000442102.2_Missense_Mutation_p.R314C|FDXR_ENST00000455107.2_Missense_Mutation_p.R227C|FDXR_ENST00000544854.1_Missense_Mutation_p.R219C|FDXR_ENST00000413947.2_Missense_Mutation_p.R302C|FDXR_ENST00000581530.1_Missense_Mutation_p.R277C|FDXR_ENST00000582944.1_Missense_Mutation_p.R263C|GRIN2C_ENST00000578159.1_5'Flank|FDXR_ENST00000581969.1_5'Flank|FDXR_ENST00000583917.1_Missense_Mutation_p.R243C	NM_001258014.1|NM_004110.3|NM_024417.2	NP_001244943.1|NP_004101.2|NP_077728.2	P22570	ADRO_HUMAN	ferredoxin reductase	271					cholesterol metabolic process (GO:0008203)|generation of precursor metabolites and energy (GO:0006091)|NADPH oxidation (GO:0070995)|oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281)|steroid biosynthetic process (GO:0006694)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ferredoxin-NADP+ reductase activity (GO:0004324)|NADPH binding (GO:0070402)|NADPH-adrenodoxin reductase activity (GO:0015039)			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(9)|prostate(1)|skin(1)	16	all_lung(278;0.172)|Lung NSC(278;0.207)				Flavin adenine dinucleotide(DB03147)	TTCCTCGGGCGGGGGACCTCT	0.687											OREG0024720	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G|||	1	0.000199681	0	0	5008	,	,		14160	0		0	False		,,,				2504	0.001					ENST00000455107.2																			0				central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(9)|prostate(1)|skin(1)	16						c.(679-681)Cgc>Tgc		ferredoxin reductase							17	20	19					17																	72860461		2173	4245	6418	SO:0001583	missense	2232				cholesterol metabolic process|electron transport chain|steroid biosynthetic process|transport	mitochondrial matrix	ferredoxin-NADP+ reductase activity|protein binding	g.chr17:72860461G>A	J03826	CCDS11707.1, CCDS58591.1, CCDS58592.1, CCDS58593.1, CCDS58594.1, CCDS58595.1, CCDS58596.1	17q25.1	2013-06-18			ENSG00000161513	ENSG00000161513	1.18.1.6		3642	protein-coding gene	gene with protein product	"adrenodoxin-NADP(+) reductase", "adrenodoxin reductase"	103270		ADXR		2969697	Standard	NM_001258014		Approved		uc010wrl.2	P22570	OTTHUMG00000179026	ENST00000293195.5:c.811C>T	17.37:g.72860461G>A	ENSP00000293195:p.Arg271Cys		OREG0024720	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1140	FDXR_ENST00000293195.5_Missense_Mutation_p.R271C|FDXR_ENST00000581530.1_Missense_Mutation_p.R277C|FDXR_ENST00000583917.1_Missense_Mutation_p.R243C|FDXR_ENST00000413947.2_Missense_Mutation_p.R302C|FDXR_ENST00000582944.1_Missense_Mutation_p.R263C|FDXR_ENST00000420580.2_Missense_Mutation_p.R231C|FDXR_ENST00000544854.1_Missense_Mutation_p.R219C|FDXR_ENST00000442102.2_Missense_Mutation_p.R314C	p.R227C			P22570	ADRO_HUMAN			10	1095	-	all_lung(278;0.172)|Lung NSC(278;0.207)		271					B4DDI7|B4DHX5|B4DQQ4|B4DX24|B7Z7G2|E7EQC1|Q13716|Q4PJI0|Q9BU12	Missense_Mutation	SNP	ENST00000293195.5	37	c.679C>T	CCDS58593.1	.	.	.	.	.	.	.	.	.	.	G	12.72	2.022999	0.35701	.	.	ENSG00000161513	ENST00000420580;ENST00000544854;ENST00000293195;ENST00000455107;ENST00000442102;ENST00000413947	T;T;T;T;T	0.21031	2.03;2.03;2.03;2.03;2.03	4.25	4.25	0.50352	.	0.000000	0.85682	D	0.000000	T	0.57562	0.2062	H	0.96269	3.795	0.80722	D	1	D;D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D;D	0.97110	1.0;0.999;0.995;0.999;0.971;0.998;0.998;0.999;0.998;0.998	T	0.70479	-0.4860	10	0.87932	D	0	-5.0617	11.6176	0.51098	0.0:0.0:0.7707:0.2293	.	231;314;302;269;219;302;271;263;271;277	B4DQQ4;B4DHX5;E7EQC1;B4DDI9;B7Z7G2;B4DDI7;Q6GSK2;B4DX24;P22570;P22570-2	.;.;.;.;.;.;.;.;ADRO_HUMAN;.	C	231;219;277;227;314;302	ENSP00000414172:R231C;ENSP00000445432:R219C;ENSP00000390875:R227C;ENSP00000416515:R314C;ENSP00000408595:R302C	ENSP00000293195:R277C	R	-	1	0	FDXR	70372056	1.000000	0.71417	0.716000	0.30569	0.028000	0.11728	2.686000	0.46968	1.924000	0.55735	0.462000	0.41574	CGC		0.687	FDXR-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000444449.1	NM_004110		5	22	0	0	0	1	0	5	22					A	72860461	G	A	72860461	3	1	94	1	0	0	0	0	1	0	0	0	5807	1116	39	2	680	2	FDXR	17	72860461	Missense_Mutation	SNP	G	TCGA-EJ-7782-01A-11D-2114-08	10367614	72860461	8334749	403	5222											
ATP5H	10476	broad.mit.edu	37	chr17	73035039	73035039	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actcaattttataaattctcAattggttggtgaggccaata	13	15	7	6	0	2	1	2	1	1	0	3	1	2	1	1	3	0	1	1	3	7	7			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr17:73035039A>G	ENST00000301587.4	-	6	521	c.474T>C	c.(472-474)atT>atC	p.I158I	KCTD2_ENST00000581589.1_Intron|KCTD2_ENST00000584767.1_Intron|ATP5H_ENST00000344546.4_Silent_p.I134I|RN7SL573P_ENST00000485340.2_RNA	NM_006356.2	NP_006347.1	O75947	ATP5H_HUMAN	ATP synthase, H+ transporting, mitochondrial Fo complex, subunit d	158					ATP catabolic process (GO:0006200)|cellular metabolic process (GO:0044237)|mitochondrial ATP synthesis coupled proton transport (GO:0042776)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrial proton-transporting ATP synthase complex (GO:0005753)|mitochondrial proton-transporting ATP synthase complex, coupling factor F(o) (GO:0000276)|mitochondrion (GO:0005739)	hydrogen ion transmembrane transporter activity (GO:0015078)|transmembrane transporter activity (GO:0022857)			lung(1)|skin(1)	2	all_lung(278;0.226)					ATAAATTCTCAATTGGTTGGT	0.368																																						ENST00000301587.4																			0				lung(1)|skin(1)	2						c.(472-474)atT>atC		ATP synthase, H+ transporting, mitochondrial Fo complex, subunit d							77	76	76					17																	73035039		2203	4300	6503	SO:0001819	synonymous_variant	10476				ATP catabolic process|respiratory electron transport chain	mitochondrial proton-transporting ATP synthase complex, coupling factor F(o)	hydrogen ion transmembrane transporter activity	g.chr17:73035039A>G	AF087135	CCDS11712.1, CCDS32727.1	17q25	2014-01-24	2010-06-11		ENSG00000167863	ENSG00000167863		"Mitochondrial respiratory chain complex / Complex V", "ATPases / F-type"	845	protein-coding gene	gene with protein product			"ATP synthase, H+ transporting, mitochondrial F0 complex, subunit d"			11042152	Standard	NM_006356		Approved	ATPQ, ATP5JD	uc002jmn.1	O75947	OTTHUMG00000179219	ENST00000301587.4:c.474T>C	17.37:g.73035039A>G						KCTD2_ENST00000584767.1_Intron|KCTD2_ENST00000581589.1_Intron|ATP5H_ENST00000344546.4_Silent_p.I134I	p.I158I	NM_006356.2	NP_006347.1	O75947	ATP5H_HUMAN			6	521	-	all_lung(278;0.226)		158					B2R5L6|Q9H3J4	Silent	SNP	ENST00000301587.4	37	c.474T>C	CCDS11712.1																																																																																				0.368	ATP5H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445318.1	NM_006356		17	42	0	0	0	1	0	17	42					G	73035039	A	G	73035039	2	3	94	1	0	0	0	0	0	0	0	1	1156	126	5	4		4	ATP5H	17	73035039	Silent	SNP	A	TCGA-EJ-7782-01A-11D-2114-08	174578	73035039	8160171	404	5223											
EVPL	2125	broad.mit.edu	37	chr17	74013981	74013981	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtgggttggccaggtctgAgccagatggagctgggggca	6	8	19	8	0	1	2	0	1	1	1	1	3	1	3	2	6	2	3	2	6	0	1			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr17:74013981A>C	ENST00000301607.3	-	14	1802	c.1549T>G	c.(1549-1551)Tca>Gca	p.S517A	EVPL_ENST00000586740.1_Missense_Mutation_p.S539A	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN	envoplakin	517	Globular 1.				epidermis development (GO:0008544)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)	cell junction (GO:0030054)|cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	protein binding, bridging (GO:0030674)|structural molecule activity (GO:0005198)			breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						GCCAGGTCTGAGCCAGATGGA	0.657																																						ENST00000301607.3																			0				breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						c.(1549-1551)Tca>Gca		envoplakin							39	42	41					17																	74013981		2203	4300	6503	SO:0001583	missense	2125				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity	g.chr17:74013981A>C	U53786	CCDS11737.1	17q25	2008-07-18				ENSG00000167880			3503	protein-coding gene	gene with protein product		601590				8938451, 10409435	Standard	NM_001988		Approved	EVPK	uc002jqi.2	Q92817		ENST00000301607.3:c.1549T>G	17.37:g.74013981A>C	ENSP00000301607:p.Ser517Ala					EVPL_ENST00000586740.1_Missense_Mutation_p.S539A	p.S517A	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN			14	1802	-			517			Globular 1.		A0AUV5	Missense_Mutation	SNP	ENST00000301607.3	37	c.1549T>G	CCDS11737.1	.	.	.	.	.	.	.	.	.	.	A	8.785	0.929177	0.18131	.	.	ENSG00000167880	ENST00000301607	T	0.63913	-0.07	4.88	-1.67	0.08238	.	0.237968	0.35235	N	0.003355	T	0.42154	0.1190	L	0.55103	1.725	0.09310	N	1	B;B	0.27229	0.047;0.172	B;B	0.25140	0.013;0.058	T	0.14559	-1.0468	10	0.10902	T	0.67	-0.644	1.4451	0.02362	0.3233:0.1629:0.3558:0.158	.	539;517	B7ZLH8;Q92817	.;EVPL_HUMAN	A	517	ENSP00000301607:S517A	ENSP00000301607:S517A	S	-	1	0	EVPL	71525576	0.001000	0.12720	0.013000	0.15412	0.047000	0.14425	0.053000	0.14184	0.003000	0.14656	0.459000	0.35465	TCA		0.657	EVPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449483.1	NM_001988		10	19	0	0	0	1	0	10	19					C	74013981	A	C	74013981	3	2	94	1	0	0	0	0	1	0	0	0	5292	304	11	5	4588	5	EVPL	17	74013981	Missense_Mutation	SNP	A	TCGA-EJ-7782-01A-11D-2114-08	978942	74013981	7181229	405	5224											
RHBDF2	79651	broad.mit.edu	37	chr17	74467835	74467835	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tacagccacagcacgagggcGgcgaagaggccggcaaaggc	12	1	16	12	4	0	1	0	0	0	1	0	3	0	1	2	5	3	2	2	5	3	1			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr17:74467835G>A	ENST00000313080.4	-	19	2724	c.2451C>T	c.(2449-2451)gcC>gcT	p.A817A	RHBDF2_ENST00000389760.4_Silent_p.A788A|RHBDF2_ENST00000591885.1_Silent_p.A788A	NM_024599.5	NP_078875.4	Q6PJF5	RHDF2_HUMAN	rhomboid 5 homolog 2 (Drosophila)	817					negative regulation of protein secretion (GO:0050709)|protein transport (GO:0015031)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(4)|skin(1)	27						GCACGAGGGCGGCGAAGAGGC	0.612																																						ENST00000591885.1																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(4)|skin(1)	27						c.(2362-2364)gcC>gcT		rhomboid 5 homolog 2 (Drosophila)							62	50	54					17																	74467835		2201	4299	6500	SO:0001819	synonymous_variant	79651				negative regulation of protein secretion|protein transport|proteolysis	endoplasmic reticulum membrane|integral to membrane	growth factor binding|serine-type endopeptidase activity	g.chr17:74467835G>A	BC016034	CCDS32743.1, CCDS32744.1	17q25.3	2014-09-17	2006-02-22	2006-02-22		ENSG00000129667			20788	protein-coding gene	gene with protein product		614404	"rhomboid, veinlet-like 6 (Drosophila)", "tylosis with oesophageal cancer"	RHBDL6, TOC		12838346, 22265016	Standard	NM_024599		Approved	FLJ22341, RHBDL5, TOCG	uc002jrq.2	Q6PJF5		ENST00000313080.4:c.2451C>T	17.37:g.74467835G>A						RHBDF2_ENST00000313080.4_Silent_p.A817A|RHBDF2_ENST00000389760.4_Silent_p.A788A	p.A788A			Q6PJF5	RHDF2_HUMAN			19	2914	-			817					A6NEM3|A8K801|Q5U607|Q5YGQ8|Q9H6E9	Silent	SNP	ENST00000313080.4	37	c.2364C>T	CCDS32743.1																																																																																				0.612	RHBDF2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000450134.1	NM_024599		3	8	0	0	0	1	0	3	8					A	74467835	G	A	74467835	2	1	94	1	0	0	0	0	0	0	0	1	13320	1103	39	2		2	RHBDF2	17	74467835	Silent	SNP	G	TCGA-EJ-7782-01A-11D-2114-08	453854	74467835	6727375	406	5225											
ENGASE	64772	broad.mit.edu	37	chr17	77079175	77079177	+	In_Frame_Del	DEL	AGA	AGA	-																															ctgggtgtatgagtgtctggAgaagaaggatttcttccaga																										TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr17:77079175_77079177delAGA	ENST00000579016.1	+	8	1112_1114	c.1112_1114delAGA	c.(1111-1116)gagaag>gag	p.K373del	ENGASE_ENST00000584568.1_3'UTR	NM_001042573.2	NP_001036038.1	Q8NFI3	ENASE_HUMAN	endo-beta-N-acetylglucosaminidase	373	BRCT. {ECO:0000255|PROSITE- ProRule:PRU00033}.					cytoplasm (GO:0005737)	mannosyl-glycoprotein endo-beta-N-acetylglucosaminidase activity (GO:0033925)			breast(2)|endometrium(4)|large_intestine(1)|lung(15)|prostate(2)|skin(1)	25						GAGTGTCTGGAGAAGAAGGATTT	0.562											OREG0024792	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000579016.1																			0				breast(2)|endometrium(4)|large_intestine(1)|lung(15)|prostate(2)|skin(1)	25						c.(1111-1116)gag>g		endo-beta-N-acetylglucosaminidase																																				SO:0001651	inframe_deletion	64772					cytosol	mannosyl-glycoprotein endo-beta-N-acetylglucosaminidase activity	g.chr17:77079175_77079177delAGA	AF512564	CCDS42394.1	17q25.3	2009-03-03			ENSG00000167280	ENSG00000167280	3.2.1.96		24622	protein-coding gene	gene with protein product	"Mannosyl-glycoprotein endo-beta-N-acetylglucosaminidase", "Di-N-acetylchitobiosyl beta-N-acetylglucosaminidase"	611898				12114544, 18586680	Standard	NM_001042573		Approved	FLJ21865	uc002jwv.4	Q8NFI3	OTTHUMG00000167714	ENST00000579016.1:c.1112_1114delAGA	17.37:g.77079178_77079180delAGA	ENSP00000462333:p.Lys373del		OREG0024792	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1173	ENGASE_ENST00000584568.1_3'UTR	p.EK371del	NM_001042573.2	NP_001036038.1	Q8NFI3	ENASE_HUMAN			8	1112_1114	+			371			BRCT.		Q659F0|Q8TB86|Q9H6U4	In_Frame_Del	DEL	ENST00000579016.1	37	c.1112_1114delAGA	CCDS42394.1																																																																																				0.562	ENGASE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395807.1	NM_022759		19	67						19	67	---	---	---	---	-	77079177	AGA	-	77079175	7	5	94	1	0	1	0	1	0	0	0	0	5118	304	11	0	1142	0	ENGASE	17	77079175	In_Frame_Del	DEL	AGA	TCGA-EJ-7782-01A-11D-2114-08	2611340	77079175	4116035	407	5226											
SLC38A10	124565	broad.mit.edu	37	chr17	79225307	79225307	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ccttaccctccagctggctgGccgcctggtttccacccgct	3	10	9	19	2	0	0	0	0	0	0	2	0	2	0	7	3	2	4	7	3	1	2			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr17:79225307G>A	ENST00000374759.3	-	14	2434	c.2051C>T	c.(2050-2052)gCc>gTc	p.A684V	SLC38A10_ENST00000288439.5_Missense_Mutation_p.A684V	NM_001037984.1	NP_001033073.1	Q9HBR0	S38AA_HUMAN	solute carrier family 38, member 10	684					amino acid transport (GO:0006865)|bone development (GO:0060348)|sodium ion transport (GO:0006814)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)			CAGCTGGCTGGCCGCCTGGTT	0.736																																						ENST00000374759.3																			0				NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						c.(2050-2052)gCc>gTc		solute carrier family 38, member 10							8	11	10					17																	79225307		2152	4229	6381	SO:0001583	missense	124565				amino acid transport|sodium ion transport	integral to membrane		g.chr17:79225307G>A	BC014642	CCDS11780.1, CCDS42397.1	17q25.3	2013-05-22			ENSG00000157637	ENSG00000157637		"Solute carriers"	28237	protein-coding gene	gene with protein product							Standard	XM_005257019		Approved	MGC15523, PP1744	uc002jzz.1	Q9HBR0	OTTHUMG00000168049	ENST00000374759.3:c.2051C>T	17.37:g.79225307G>A	ENSP00000363891:p.Ala684Val					SLC38A10_ENST00000288439.5_Missense_Mutation_p.A684V	p.A684V	NM_001037984.1	NP_001033073.1	Q9HBR0	S38AA_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)		14	2434	-	all_neural(118;0.0804)|Melanoma(429;0.242)		684					Q6ZRC5|Q8NA99|Q96C66	Missense_Mutation	SNP	ENST00000374759.3	37	c.2051C>T	CCDS42397.1	.	.	.	.	.	.	.	.	.	.	G	6.030	0.373844	0.11409	.	.	ENSG00000157637	ENST00000374759;ENST00000540966;ENST00000288439	T;T;T	0.47528	3.05;0.84;2.66	3.49	1.44	0.22558	.	29.907000	0.00166	N	0.000000	T	0.29355	0.0731	N	0.14661	0.345	0.09310	N	1	B;P	0.42827	0.187;0.791	B;B	0.38378	0.025;0.272	T	0.19128	-1.0315	10	0.49607	T	0.09	-15.4747	1.2633	0.02006	0.2052:0.4123:0.2233:0.1592	.	684;684	Q9HBR0-2;Q9HBR0	.;S38AA_HUMAN	V	684;62;684	ENSP00000363891:A684V;ENSP00000437601:A62V;ENSP00000288439:A684V	ENSP00000288439:A684V	A	-	2	0	SLC38A10	76839902	0.855000	0.29742	0.163000	0.22734	0.057000	0.15508	0.443000	0.21644	0.285000	0.22329	-0.397000	0.06425	GCC		0.736	SLC38A10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397747.1	NM_138570		3	12	0	0	0	1	0	3	12					A	79225307	G	A	79225307	3	1	94	1	0	0	0	0	1	0	0	0	14602	1203	42	3	1598	3	SLC38A10	17	79225307	Missense_Mutation	SNP	G	TCGA-EJ-7782-01A-11D-2114-08	2146132	79225307	1969903	408	5227											
DUS1L	64118	broad.mit.edu	37	chr17	80016030	80016030	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgacttcggagaagccaccTggtgttccaggtgctgctgg	7	10	14	10	1	0	2	0	1	0	1	2	3	1	2	3	4	3	3	3	4	1	2			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr17:80016030T>G	ENST00000354321.7	-	13	1868	c.1383A>C	c.(1381-1383)ccA>ccC	p.P461P	DUS1L_ENST00000306796.5_Silent_p.P461P			Q6P1R4	DUS1L_HUMAN	dihydrouridine synthase 1-like (S. cerevisiae)	461							flavin adenine dinucleotide binding (GO:0050660)|tRNA dihydrouridine synthase activity (GO:0017150)			breast(1)|endometrium(1)|lung(2)|ovary(1)|skin(1)	6	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0211)			AGAAGCCACCTGGTGTTCCAG	0.582																																						ENST00000354321.7																			0				breast(1)|endometrium(1)|lung(2)|ovary(1)|skin(1)	6						c.(1381-1383)ccA>ccC		dihydrouridine synthase 1-like (S. cerevisiae)							43	48	46					17																	80016030		2202	4298	6500	SO:0001819	synonymous_variant	64118				tRNA processing		flavin adenine dinucleotide binding|tRNA dihydrouridine synthase activity	g.chr17:80016030T>G		CCDS32775.1	17q25.3	2005-08-09				ENSG00000169718			30086	protein-coding gene	gene with protein product						12477932	Standard	NM_022156		Approved	PP3111, DUS1	uc002kdr.4	Q6P1R4		ENST00000354321.7:c.1383A>C	17.37:g.80016030T>G						DUS1L_ENST00000306796.5_Silent_p.P461P	p.P461P			Q6P1R4	DUS1L_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0211)		13	1868	-	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		461					A6NHV4|Q96AI3	Silent	SNP	ENST00000354321.7	37	c.1383A>C	CCDS32775.1																																																																																				0.582	DUS1L-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442347.1	NM_022156		12	39	0	0	0	1	0	12	39					G	80016030	T	G	80016030	2	3	94	1	0	0	0	0	0	0	0	1	4805	1567	55	5		5	DUS1L	17	80016030	Silent	SNP	T	TCGA-EJ-7782-01A-11D-2114-08	790723	80016030	1179180	409	5228											
C17orf101	79701	broad.mit.edu	37	chr17	80356123	80356123	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcctccatgaacatgaaccGccctccgccgaagtcctcca	9	7	6	19	3	0	2	0	2	0	0	5	3	5	2	8	0	2	0	8	0	3	0			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr17:80356123G>A	ENST00000313056.5	-	8	923	c.772C>T	c.(772-774)Cgg>Tgg	p.R258W	OGFOD3_ENST00000329197.5_Missense_Mutation_p.R258W|RP13-20L14.4_ENST00000579188.1_RNA	NM_024648.2|NM_175902.4	NP_078924.1|NP_787098.3	Q6PK18	OGFD3_HUMAN	2-oxoglutarate and iron-dependent oxygenase domain containing 3	258	Fe2OG dioxygenase. {ECO:0000255|PROSITE- ProRule:PRU00805}.					extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)										AACATGAACCGCCCTCCGCCG	0.667																																						ENST00000313056.5																			0											c.(772-774)Cgg>Tgg		2-oxoglutarate and iron-dependent oxygenase domain containing 3							61	57	58					17																	80356123		2203	4300	6503	SO:0001583	missense	79701							g.chr17:80356123G>A	BC023602	CCDS11811.1, CCDS11812.1	17q25.3	2012-10-23	2012-10-23	2012-10-23	ENSG00000181396	ENSG00000181396			26174	protein-coding gene	gene with protein product			"chromosome 17 open reading frame 101"	C17orf101		12477932	Standard	NM_175902		Approved	FLJ22222	uc002keu.2	Q6PK18		ENST00000313056.5:c.772C>T	17.37:g.80356123G>A	ENSP00000320116:p.Arg258Trp					OGFOD3_ENST00000329197.5_Missense_Mutation_p.R258W	p.R258W	NM_024648.2|NM_175902.4	NP_078924.1|NP_787098.3					8	923	-								C9JDC8|Q8IZ37|Q9H6J2	Missense_Mutation	SNP	ENST00000313056.5	37	c.772C>T	CCDS11811.1	.	.	.	.	.	.	.	.	.	.	G	20.5	4.008180	0.75046	.	.	ENSG00000181396	ENST00000313056;ENST00000329197	T;T	0.59906	0.23;1.16	4.18	2.0	0.26442	Oxoglutarate/iron-dependent oxygenase (1);Prolyl 4-hydroxylase, alpha subunit (1);	0.000000	0.64402	D	0.000002	T	0.76828	0.4042	M	0.88570	2.965	0.58432	D	0.999995	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.80489	-0.1360	10	0.87932	D	0	-21.9049	11.4093	0.49917	0.0:0.0:0.6555:0.3445	.	258;258	Q6PK18;Q6PK18-2	CQ101_HUMAN;.	W	258	ENSP00000320116:R258W;ENSP00000330075:R258W	ENSP00000320116:R258W	R	-	1	2	C17orf101	77949412	0.991000	0.36638	0.828000	0.32881	0.907000	0.53573	1.828000	0.39111	0.901000	0.36495	0.491000	0.48974	CGG		0.667	OGFOD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442895.1	NM_175902		12	21	0	0	0	1	0	12	21					A	80356123	G	A	80356123	3	1	94	1	0	0	0	0	1	0	0	0	1848	1086	38	1	372	1	C17orf101	17	80356123	Missense_Mutation	SNP	G	TCGA-EJ-7782-01A-11D-2114-08	340093	80356123	839087	410	5229											
ZNF750	79755	broad.mit.edu	37	chr17	80788498	80788498	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cgaccggggaaggcaggcctCggagcctgggtgttacaggg	7	5	19	10	3	0	0	0	0	0	0	1	3	0	2	3	7	2	2	3	7	2	1			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr17:80788498C>T	ENST00000269394.3	-	3	2525	c.1692G>A	c.(1690-1692)ccG>ccA	p.P564P	TBCD_ENST00000539345.2_Intron|TBCD_ENST00000397466.2_Intron|ZNF750_ENST00000572562.1_Silent_p.P165P|TBCD_ENST00000355528.4_Intron	NM_024702.2	NP_078978.2	Q32MQ0	ZN750_HUMAN	zinc finger protein 750	564					cell differentiation (GO:0030154)|epidermis development (GO:0008544)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(3)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	31	Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0514)|all_epithelial(8;0.0748)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.149)			AGGCAGGCCTCGGAGCCTGGG	0.627																																						ENST00000269394.3																			0				NS(3)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	31						c.(1690-1692)ccG>ccA		zinc finger protein 750							60	65	63					17																	80788498		2203	4300	6503	SO:0001819	synonymous_variant	79755					intracellular	zinc ion binding	g.chr17:80788498C>T	AK023903	CCDS11819.1	17q25.3	2008-05-02				ENSG00000141579			25843	protein-coding gene	gene with protein product		610226				16751772	Standard	NM_024702		Approved	FLJ13841, Zfp750	uc002kga.3	Q32MQ0		ENST00000269394.3:c.1692G>A	17.37:g.80788498C>T						ZNF750_ENST00000572562.1_Silent_p.P165P|TBCD_ENST00000539345.2_Intron|TBCD_ENST00000397466.2_Intron|TBCD_ENST00000355528.4_Intron	p.P564P	NM_024702.2	NP_078978.2	Q32MQ0	ZN750_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.149)		3	2525	-	Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0514)|all_epithelial(8;0.0748)	564					Q9H899	Silent	SNP	ENST00000269394.3	37	c.1692G>A	CCDS11819.1																																																																																				0.627	ZNF750-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439074.2	NM_024702		14	75	0	0	0	1	0	14	75					T	80788498	C	T	80788498	2	4	94	1	0	0	0	0	0	0	0	1	18129	871	31	2		2	ZNF750	17	80788498	Silent	SNP	C	TCGA-EJ-7782-01A-11D-2114-08	432375	80788498	406712	411	5230											
MYL12B	103910	broad.mit.edu	37	chr18	3272921	3272921	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgagcaaaaaggcaaagaccAagaccaccaagaagcgccct	18	1	9	13	2	0	3	0	0	0	3	0	4	0	3	4	1	2	2	4	1	6	0			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr18:3272921A>G	ENST00000581193.1	+	2	408	c.25A>G	c.(25-27)Aag>Gag	p.K9E	MYL12B_ENST00000400175.5_Missense_Mutation_p.K9E|MYL12B_ENST00000237500.5_Missense_Mutation_p.K9E|MYL12B_ENST00000584539.1_Missense_Mutation_p.K9E	NM_001144945.1	NP_001138417.1	O14950	ML12B_HUMAN	myosin, light chain 12B, regulatory	9					axon guidance (GO:0007411)|muscle contraction (GO:0006936)|regulation of cell shape (GO:0008360)	apical part of cell (GO:0045177)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|myosin II complex (GO:0016460)|stress fiber (GO:0001725)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)			breast(1)|large_intestine(1)|lung(2)	4						GGCAAAGACCAAGACCACCAA	0.388																																						ENST00000581193.1																			0				breast(1)|large_intestine(1)|lung(2)	4						c.(25-27)Aag>Gag		myosin, light chain 12B, regulatory							141	130	133					18																	3272921		2203	4300	6503	SO:0001583	missense	103910				axon guidance|muscle contraction	cytosol|myosin complex	calcium ion binding	g.chr18:3272921A>G	AY320408	CCDS11831.1	18p11.31	2013-01-10			ENSG00000118680	ENSG00000118680		"Myosins / Light chain", "EF-hand domain containing"	29827	protein-coding gene	gene with protein product	"myosin regulatory light chain 2"	609211				11942626	Standard	NM_033546		Approved	MRLC2	uc002klt.4	O14950	OTTHUMG00000131510	ENST00000581193.1:c.25A>G	18.37:g.3272921A>G	ENSP00000463559:p.Lys9Glu					MYL12B_ENST00000237500.5_Missense_Mutation_p.K9E|MYL12B_ENST00000400175.5_Missense_Mutation_p.K9E|MYL12B_ENST00000584539.1_Missense_Mutation_p.K9E	p.K9E	NM_001144945.1	NP_001138417.1	O14950	ML12B_HUMAN			2	408	+			9					D3DUH6|Q13182|Q7Z5Z4	Missense_Mutation	SNP	ENST00000581193.1	37	c.25A>G	CCDS11831.1	.	.	.	.	.	.	.	.	.	.	A	20.2	3.950993	0.73787	.	.	ENSG00000118680	ENST00000237500;ENST00000400177;ENST00000400175;ENST00000400174	T;T	0.74421	-0.84;-0.84	5.48	5.48	0.80851	.	0.000000	0.85682	D	0.000000	T	0.68577	0.3016	L	0.45352	1.415	0.58432	D	0.999999	P	0.35124	0.485	B	0.32980	0.156	T	0.72114	-0.4388	10	0.72032	D	0.01	.	15.8573	0.78989	1.0:0.0:0.0:0.0	.	9	O14950	ML12B_HUMAN	E	9	ENSP00000237500:K9E;ENSP00000383037:K9E	ENSP00000237500:K9E	K	+	1	0	MYL12B	3262921	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.287000	0.95975	2.197000	0.70478	0.528000	0.53228	AAG		0.388	MYL12B-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258908.1	NM_033546		29	73	0	0	0	1	0	29	73					G	3272921	A	G	3272921	3	3	94	1	0	0	0	0	1	0	0	0	10046	131	5	4	27	4	MYL12B	18	3272921	Missense_Mutation	SNP	A	TCGA-EJ-7782-01A-11D-2114-08		3272921	74804327	412	5231											
CABLES1	91768	broad.mit.edu	37	chr18	20768869	20768869	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgaggagaacgcccctctcCggaggtaattttctgtttca	8	13	10	10	2	3	2	1	1	2	1	4	4	3	3	3	3	1	2	3	3	2	5			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr18:20768869C>T	ENST00000256925.7	+	2	913	c.913C>T	c.(913-915)Cgg>Tgg	p.R305W	CABLES1_ENST00000400473.2_5'UTR|CABLES1_ENST00000585061.1_3'UTR|CABLES1_ENST00000420687.2_Missense_Mutation_p.R40W	NM_001100619.2	NP_001094089.1	Q8TDN4	CABL1_HUMAN	Cdk5 and Abl enzyme substrate 1	305	Interacts with CDK3. {ECO:0000250}.				blood coagulation (GO:0007596)|cell cycle (GO:0007049)|cell division (GO:0051301)|nervous system development (GO:0007399)|regulation of cell cycle (GO:0051726)|regulation of cell division (GO:0051302)	cytosol (GO:0005829)|nucleus (GO:0005634)	cyclin-dependent protein serine/threonine kinase regulator activity (GO:0016538)			breast(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|stomach(1)	11	all_cancers(21;0.000102)|all_epithelial(16;2.48e-06)|Lung NSC(20;0.00696)|all_lung(20;0.0197)|Colorectal(14;0.0202)|Ovarian(20;0.127)					CGCCCCTCTCCGGAGGTAATT	0.398																																						ENST00000256925.7																			0				breast(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|stomach(1)	11						c.(913-915)Cgg>Tgg		Cdk5 and Abl enzyme substrate 1							46	44	44					18																	20768869		1810	4071	5881	SO:0001583	missense	91768				blood coagulation|cell cycle|cell division|regulation of cell cycle|regulation of cell division	cytosol|nucleus	cyclin-dependent protein kinase regulator activity|protein binding	g.chr18:20768869C>T	BC037218	CCDS42417.1, CCDS42418.1, CCDS58615.1	18q11.2	2005-08-16				ENSG00000134508			25097	protein-coding gene	gene with protein product		609194				12477932	Standard	NM_138375		Approved	HsT2563, FLJ35924	uc002kuc.2	Q8TDN4		ENST00000256925.7:c.913C>T	18.37:g.20768869C>T	ENSP00000256925:p.Arg305Trp					CABLES1_ENST00000585061.1_3'UTR|CABLES1_ENST00000420687.2_Missense_Mutation_p.R40W|CABLES1_ENST00000400473.2_5'UTR	p.R305W	NM_001100619.2	NP_001094089.1	Q8TDN4	CABL1_HUMAN			2	913	+	all_cancers(21;0.000102)|all_epithelial(16;2.48e-06)|Lung NSC(20;0.00696)|all_lung(20;0.0197)|Colorectal(14;0.0202)|Ovarian(20;0.127)		305			Interacts with CDK3 (By similarity).		B4DK60|Q8N3Y8|Q8NA22|Q9BTG1	Missense_Mutation	SNP	ENST00000256925.7	37	c.913C>T	CCDS42417.1	.	.	.	.	.	.	.	.	.	.	C	33	5.216521	0.95104	.	.	ENSG00000134508	ENST00000256925;ENST00000420687	T;T	0.49139	0.79;0.83	5.66	5.66	0.87406	.	0.113006	0.64402	D	0.000007	T	0.64260	0.2582	L	0.47716	1.5	0.80722	D	1	D;D	0.89917	0.986;1.0	P;D	0.69654	0.636;0.965	T	0.64769	-0.6329	10	0.72032	D	0.01	-9.8525	19.8141	0.96558	0.0:1.0:0.0:0.0	.	40;305	Q8TDN4-2;Q8TDN4	.;CABL1_HUMAN	W	305;40	ENSP00000256925:R305W;ENSP00000413851:R40W	ENSP00000256925:R305W	R	+	1	2	CABLES1	19022867	0.994000	0.37717	1.000000	0.80357	0.991000	0.79684	2.871000	0.48459	2.697000	0.92050	0.556000	0.70494	CGG		0.398	CABLES1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000445198.2	NM_138375		5	15	0	0	0	1	0	5	15					T	20768869	C	T	20768869	3	4	94	1	0	0	0	0	1	0	0	0	2529	643	23	2	973	2	CABLES1	18	20768869	Missense_Mutation	SNP	C	TCGA-EJ-7782-01A-11D-2114-08	17495948	20768869	57308379	413	5232											
KIAA1012	22878	broad.mit.edu	37	chr18	29488975	29488975	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aagttatttggtaagccatcTactgaaaaagagattatttc	15	14	7	5	0	1	2	0	1	1	1	2	3	1	2	1	1	2	2	1	1	7	6			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr18:29488975T>C	ENST00000283351.4	-	7	1201		c.e7-2		TRAPPC8_ENST00000582513.1_Splice_Site|TRAPPC8_ENST00000582539.1_Splice_Site	NM_014939.3	NP_055754	Q9Y2L5	TPPC8_HUMAN	trafficking protein particle complex 8						vesicle-mediated transport (GO:0016192)	Golgi apparatus (GO:0005794)				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(7)|liver(2)|lung(13)|ovary(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						GTAAGCCATCTACTGAAAAAG	0.358																																						ENST00000283351.4																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(7)|liver(2)|lung(13)|ovary(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						c.e7-2		trafficking protein particle complex 8							60	56	58					18																	29488975		2203	4300	6503	SO:0001630	splice_region_variant	22878				ER to Golgi vesicle-mediated transport	cis-Golgi network		g.chr18:29488975T>C	AB023229	CCDS11901.1	18q12.1	2011-10-10	2010-06-29	2010-06-29	ENSG00000153339	ENSG00000153339		"Trafficking protein particle complex"	29169	protein-coding gene	gene with protein product	"general sporulation gene 1 homolog (S. cerevisiae)"	614136	"KIAA1012"	KIAA1012		10231032, 11230166	Standard	NM_014939		Approved	HsT2706, TRS85, GSG1	uc002kxc.4	Q9Y2L5	OTTHUMG00000132267	ENST00000283351.4:c.866-2A>G	18.37:g.29488975T>C						TRAPPC8_ENST00000582539.1_Splice_Site|TRAPPC8_ENST00000582513.1_Splice_Site		NM_014939.3	NP_055754.2	Q9Y2L5	TPPC8_HUMAN			7	1201	-								A0JP15|B3KME5|Q9H0L2	Splice_Site	SNP	ENST00000283351.4	37		CCDS11901.1	.	.	.	.	.	.	.	.	.	.	T	15.89	2.965290	0.53507	.	.	ENSG00000153339	ENST00000283351	.	.	.	5.56	4.33	0.51752	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.2984	0.54860	0.0:0.0:0.1413:0.8587	.	.	.	.	.	-1	.	.	.	-	.	.	TRAPPC8	27742973	1.000000	0.71417	1.000000	0.80357	0.743000	0.42351	3.090000	0.50191	2.115000	0.64714	0.528000	0.53228	.		0.358	TRAPPC8-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255355.1	NM_014939	Intron	11	30	0	0	0	1	0	11	30					C	29488975	T	C	29488975	5	2	94	1	0	0	0	0	0	0	1	0	8204	1536	53	4	3535	4	KIAA1012	18	29488975	Splice_Site	SNP	T	TCGA-EJ-7782-01A-11D-2114-08	8720106	29488975	48588273	414	5233											
FAM59A	64762	broad.mit.edu	37	chr18	29848728	29848728	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tttgtgtcagttttagtgacGctgcttaaaagcaaacacag	12	13	9	7	1	1	1	1	1	0	0	1	1	1	1	0	0	3	4	0	0	4	4	rs373713186		TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr18:29848728G>A	ENST00000269209.6	-	6	1740	c.1737C>T	c.(1735-1737)agC>agT	p.S579S	GAREM_ENST00000399218.4_Splice_Site_p.I578I			Q9H706	GAREM_HUMAN	GRB2 associated, regulator of MAPK1	579					cellular response to epidermal growth factor stimulus (GO:0071364)|epidermal growth factor receptor signaling pathway (GO:0007173)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)	plasma membrane (GO:0005886)	proline-rich region binding (GO:0070064)										TTTTAGTGACGCTGCTTAAAA	0.403																																						ENST00000399218.4																			0											c.e6-1		GRB2 associated, regulator of MAPK1		G	,	1,4405	2.1+/-5.4	0,1,2202	60	60	60		1737,1734	3.7	0.9	18		60	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous-near-splice	FAM59A	NM_001242409.1,NM_022751.2	,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,	579/877,578/876	29848728	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	64762							g.chr18:29848728G>A	AK025263	CCDS11905.1, CCDS56057.1	18q12.1	2012-11-30	2012-11-30	2012-11-30	ENSG00000141441	ENSG00000141441			26136	protein-coding gene	gene with protein product	"Grb2-associated and regulator of Erk/MAPK"		"chromosome 18 open reading frame 11", "family with sequence similarity 59, member A"	C18orf11, FAM59A		19509291	Standard	NM_001242409		Approved	FLJ21610	uc002kxl.3	Q9H706	OTTHUMG00000132273	ENST00000269209.6:c.1737C>T	18.37:g.29848728G>A						GAREM_ENST00000269209.6_Silent_p.S579S	p.I578_splice	NM_001242409.1|NM_022751.2	NP_001229338.1|NP_073588.1					6	1789	-								Q0VAG3|Q0VAG4|Q8ND03|Q9BSF5	Splice_Site	SNP	ENST00000269209.6	37	c.1733_splice	CCDS56057.1																																																																																				0.403	GAREM-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255365.1	NM_022751		13	53	0	0	0	1	0	13	53					A	29848728	G	A	29848728	2	1	94	1	0	0	0	0	0	0	0	1	5592	1101	38	1		1	FAM59A	18	29848728	Silent	SNP	G	TCGA-EJ-7782-01A-11D-2114-08	359753	29848728	48228520	415	5234											
C18orf34	374864	broad.mit.edu	37	chr18	30804860	30804860	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tattttttataagctctttcCgctcaagtgcctggacttcg	7	17	7	10	2	2	0	1	0	1	0	4	1	3	1	2	1	2	2	2	1	4	7	rs112779048	byFrequency	TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr18:30804860C>T	ENST00000383096.3	-	17	1879	c.1697G>A	c.(1696-1698)cGg>cAg	p.R566Q	CCDC178_ENST00000579916.1_Intron|CCDC178_ENST00000402325.1_Missense_Mutation_p.R566Q|CCDC178_ENST00000583930.1_Missense_Mutation_p.R566Q|CCDC178_ENST00000579947.1_Missense_Mutation_p.R566Q|CCDC178_ENST00000406524.2_Missense_Mutation_p.R566Q|CCDC178_ENST00000403303.1_Missense_Mutation_p.R566Q|CCDC178_ENST00000300227.8_Missense_Mutation_p.R566Q			Q5BJE1	CC178_HUMAN	coiled-coil domain containing 178	566																	AAGCTCTTTCCGCTCAAGTGC	0.358																																						ENST00000383096.3																			0											c.(1696-1698)cGg>cAg		coiled-coil domain containing 178		C	GLN/ARG,GLN/ARG	0,4404		0,0,2202	82	76	78		1697,1697	-4.8	0	18	dbSNP_132	78	1,8597	1.2+/-3.3	0,1,4298	no	missense,missense	C18orf34	NM_001105528.1,NM_198995.2	43,43	0,1,6500	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging	566/868,566/830	30804860	1,13001	2202	4299	6501	SO:0001583	missense	374864							g.chr18:30804860C>T	AK126038	CCDS11906.1, CCDS42424.1	18q12.1	2012-10-15	2012-10-15	2012-10-15	ENSG00000166960	ENSG00000166960			29588	protein-coding gene	gene with protein product			"chromosome 18 open reading frame 34"	C18orf34			Standard	NM_198995		Approved	FLJ44050	uc002kxn.2	Q5BJE1	OTTHUMG00000132279	ENST00000383096.3:c.1697G>A	18.37:g.30804860C>T	ENSP00000372576:p.Arg566Gln					CCDC178_ENST00000579916.1_Intron|CCDC178_ENST00000403303.1_Missense_Mutation_p.R566Q|CCDC178_ENST00000406524.2_Missense_Mutation_p.R566Q|CCDC178_ENST00000300227.8_Missense_Mutation_p.R566Q|CCDC178_ENST00000402325.1_Missense_Mutation_p.R566Q|CCDC178_ENST00000583930.1_Missense_Mutation_p.R566Q|CCDC178_ENST00000579947.1_Missense_Mutation_p.R566Q	p.R566Q							17	1879	-								A6NDC6|J3KS92|Q6ZP67|Q6ZU20	Missense_Mutation	SNP	ENST00000383096.3	37	c.1697G>A	CCDS42424.1	.	.	.	.	.	.	.	.	.	.	C	8.848	0.943916	0.18281	0.0	1.16E-4	ENSG00000166960	ENST00000403303;ENST00000383096;ENST00000300227;ENST00000406524;ENST00000402325	T;T;T;T;T	0.15603	2.46;2.46;2.42;2.46;2.41	4.48	-4.81	0.03180	.	.	.	.	.	T	0.14313	0.0346	L	0.40543	1.245	0.09310	N	1	D;P;D;D;D	0.59767	0.986;0.953;0.986;0.986;0.986	P;P;P;P;P	0.50590	0.645;0.521;0.645;0.509;0.509	T	0.11446	-1.0587	9	0.10377	T	0.69	-1.1569	7.2143	0.25951	0.1349:0.2403:0.0:0.6248	.	566;566;566;566;566	F8W7A7;Q5BJE1-3;B5MD75;Q5BJE1-2;Q5BJE1	.;.;.;.;CR034_HUMAN	Q	566	ENSP00000385591:R566Q;ENSP00000372576:R566Q;ENSP00000300227:R566Q;ENSP00000385867:R566Q;ENSP00000385234:R566Q	ENSP00000300227:R566Q	R	-	2	0	C18orf34	29058858	0.001000	0.12720	0.001000	0.08648	0.004000	0.04260	-1.389000	0.02530	-1.139000	0.02881	-0.157000	0.13467	CGG		0.358	CCDC178-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255373.2	NM_198995		18	21	0	0	0	1	0	18	21					T	30804860	C	T	30804860	3	4	94	1	0	0	0	0	1	0	0	0	1902	652	23	2	934	2	C18orf34	18	30804860	Missense_Mutation	SNP	C	TCGA-EJ-7782-01A-11D-2114-08	956132	30804860	47272388	416	5235											
C18orf34	374864	broad.mit.edu	37	chr18	30950099	30950099	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aaggtgctggaatatttactAcggcacagctgtgacgtcga	11	10	12	8	3	0	1	0	1	0	0	1	3	0	2	0	3	4	3	0	3	5	4			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr18:30950099A>G	ENST00000383096.3	-	6	445	c.263T>C	c.(262-264)gTa>gCa	p.V88A	CCDC178_ENST00000579916.1_Missense_Mutation_p.V88A|CCDC178_ENST00000402325.1_Missense_Mutation_p.V88A|CCDC178_ENST00000583930.1_Missense_Mutation_p.V88A|CCDC178_ENST00000579947.1_Missense_Mutation_p.V88A|CCDC178_ENST00000406524.2_Missense_Mutation_p.V88A|CCDC178_ENST00000403303.1_Missense_Mutation_p.V88A|CCDC178_ENST00000300227.8_Missense_Mutation_p.V88A			Q5BJE1	CC178_HUMAN	coiled-coil domain containing 178	88																	AATATTTACTACGGCACAGCT	0.378																																						ENST00000383096.3																			0											c.(262-264)gTa>gCa		coiled-coil domain containing 178							86	78	81					18																	30950099		2203	4300	6503	SO:0001583	missense	374864							g.chr18:30950099A>G	AK126038	CCDS11906.1, CCDS42424.1	18q12.1	2012-10-15	2012-10-15	2012-10-15	ENSG00000166960	ENSG00000166960			29588	protein-coding gene	gene with protein product			"chromosome 18 open reading frame 34"	C18orf34			Standard	NM_198995		Approved	FLJ44050	uc002kxn.2	Q5BJE1	OTTHUMG00000132279	ENST00000383096.3:c.263T>C	18.37:g.30950099A>G	ENSP00000372576:p.Val88Ala					CCDC178_ENST00000579916.1_Missense_Mutation_p.V88A|CCDC178_ENST00000403303.1_Missense_Mutation_p.V88A|CCDC178_ENST00000406524.2_Missense_Mutation_p.V88A|CCDC178_ENST00000300227.8_Missense_Mutation_p.V88A|CCDC178_ENST00000402325.1_Missense_Mutation_p.V88A|CCDC178_ENST00000583930.1_Missense_Mutation_p.V88A|CCDC178_ENST00000579947.1_Missense_Mutation_p.V88A	p.V88A							6	445	-								A6NDC6|J3KS92|Q6ZP67|Q6ZU20	Missense_Mutation	SNP	ENST00000383096.3	37	c.263T>C	CCDS42424.1	.	.	.	.	.	.	.	.	.	.	A	4.539	0.100114	0.08731	.	.	ENSG00000166960	ENST00000403303;ENST00000383096;ENST00000300227;ENST00000406524;ENST00000402325;ENST00000399177	T;T;T;T;T;T	0.50277	2.32;2.32;2.31;2.31;2.31;0.75	5.5	1.66	0.24008	.	.	.	.	.	T	0.34745	0.0908	L	0.40543	1.245	0.09310	N	1	B;P;B;B;B	0.37500	0.341;0.597;0.206;0.341;0.341	B;B;B;B;B	0.37047	0.085;0.24;0.085;0.085;0.085	T	0.25676	-1.0125	9	0.66056	D	0.02	0.5166	3.7125	0.08425	0.6684:0.0:0.1751:0.1565	.	88;88;88;88;88	F8W7A7;A1L4G8;B5MD75;Q5BJE1-2;Q5BJE1	.;.;.;.;CR034_HUMAN	A	88	ENSP00000385591:V88A;ENSP00000372576:V88A;ENSP00000300227:V88A;ENSP00000385867:V88A;ENSP00000385234:V88A;ENSP00000382130:V88A	ENSP00000300227:V88A	V	-	2	0	C18orf34	29204097	0.005000	0.15991	0.034000	0.17996	0.177000	0.22998	0.998000	0.29744	0.036000	0.15547	0.454000	0.30748	GTA		0.378	CCDC178-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255373.2	NM_198995		14	38	0	0	0	1	0	14	38					G	30950099	A	G	30950099	3	3	94	1	0	0	0	0	1	0	0	0	1902	391	14	4	2412	4	C18orf34	18	30950099	Missense_Mutation	SNP	A	TCGA-EJ-7782-01A-11D-2114-08	145239	30950099	47127149	417	5236											
SLC14A2	8170	broad.mit.edu	37	chr18	43248313	43248313	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgaccctccctctcctgccaGgtcggccatcgctgcaggat	5	9	10	17	2	1	1	0	1	1	0	5	2	2	2	5	3	2	2	5	3	0	0			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr18:43248313G>A	ENST00000255226.6	+	15	2723		c.e15-1		SLC14A2_ENST00000589658.1_Splice_Site|SLC14A2_ENST00000586448.1_Splice_Site|RP11-116O18.3_ENST00000589510.1_RNA	NM_007163.3	NP_009094.3	Q15849	UT2_HUMAN	solute carrier family 14 (urea transporter), member 2						transmembrane transport (GO:0055085)|urea transport (GO:0015840)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|urea transmembrane transporter activity (GO:0015204)			NS(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(35)|ovary(1)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						TCTCCTGCCAGGTCGGCCATC	0.562																																						ENST00000255226.6																			0				NS(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(35)|ovary(1)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						c.e15-1		solute carrier family 14 (urea transporter), member 2							90	87	88					18																	43248313		2203	4300	6503	SO:0001630	splice_region_variant	8170					apical plasma membrane|integral to membrane|membrane fraction	protein binding|urea transmembrane transporter activity	g.chr18:43248313G>A	X96969	CCDS11924.1	18q12.1-q21.1	2013-05-22			ENSG00000132874	ENSG00000132874		"Solute carriers"	10919	protein-coding gene	gene with protein product		601611				8647271	Standard	NM_007163		Approved	HUT2, UT2	uc010dnj.3	Q15849	OTTHUMG00000132616	ENST00000255226.6:c.1908-1G>A	18.37:g.43248313G>A						SLC14A2_ENST00000589658.1_Splice_Site|SLC14A2_ENST00000586448.1_Splice_Site		NM_007163.3	NP_009094.3	Q15849	UT2_HUMAN			15	2723	+								A8K8Q7|Q2TBD6|Q96PH5	Splice_Site	SNP	ENST00000255226.6	37		CCDS11924.1	.	.	.	.	.	.	.	.	.	.	G	14.03	2.413037	0.42817	.	.	ENSG00000132874	ENST00000255226	.	.	.	4.83	4.83	0.62350	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.1372	0.89623	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SLC14A2	41502311	1.000000	0.71417	0.935000	0.37517	0.129000	0.20672	8.890000	0.92477	2.503000	0.84419	0.563000	0.77884	.		0.562	SLC14A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255858.1		Intron	13	21	0	0	0	1	0	13	21					A	43248313	G	A	43248313	5	1	94	1	0	0	0	0	0	0	1	0	14397	1014	35	3	1961	3	SLC14A2	18	43248313	Splice_Site	SNP	G	TCGA-EJ-7782-01A-11D-2114-08	12298214	43248313	34828935	418	5237											
ZCCHC2	54877	broad.mit.edu	37	chr18	60241837	60241837	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccacccggaagcctgagcatCgcatcaccaaacactgcctt	11	6	7	17	2	1	1	1	1	0	0	2	2	1	2	5	1	4	2	5	1	2	1	rs369915168		TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr18:60241837C>T	ENST00000269499.5	+	13	2941	c.2523C>T	c.(2521-2523)atC>atT	p.I841I	ZCCHC2_ENST00000586834.1_Silent_p.I520I	NM_017742.4	NP_060212.4	Q9C0B9	ZCHC2_HUMAN	zinc finger, CCHC domain containing 2	841						cytoplasm (GO:0005737)	nucleic acid binding (GO:0003676)|phosphatidylinositol binding (GO:0035091)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(10)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	25						GCCTGAGCATCGCATCACCAA	0.507																																						ENST00000269499.5																			0				breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(10)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	25						c.(2521-2523)atC>atT		zinc finger, CCHC domain containing 2		C		1,4145		0,1,2072	141	142	141		2523	3.6	1	18		141	6,8416		0,6,4205	no	coding-synonymous	ZCCHC2	NM_017742.4		0,7,6277	TT,TC,CC		0.0712,0.0241,0.0557		841/1179	60241837	7,12561	2073	4211	6284	SO:0001819	synonymous_variant	54877				cell communication	cytoplasm	nucleic acid binding|phosphatidylinositol binding|zinc ion binding	g.chr18:60241837C>T	AB051531	CCDS45880.1	18q21.33	2012-04-19			ENSG00000141664	ENSG00000141664		"Zinc fingers, CCHC domain containing"	22916	protein-coding gene	gene with protein product			"chromosome 18 open reading frame 49"	C18orf49		11214970	Standard	NM_017742		Approved	FLJ20281, KIAA1744, FLJ20222	uc002lip.4	Q9C0B9		ENST00000269499.5:c.2523C>T	18.37:g.60241837C>T						ZCCHC2_ENST00000586834.1_Silent_p.I520I	p.I841I	NM_017742.4	NP_060212.4	Q9C0B9	ZCHC2_HUMAN			13	2941	+			841					B2RPG6|Q8N3S1|Q9NXF6	Silent	SNP	ENST00000269499.5	37	c.2523C>T	CCDS45880.1																																																																																				0.507	ZCCHC2-005	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000450083.1	NM_017742		25	47	0	0	0	1	0	25	47					T	60241837	C	T	60241837	2	4	94	1	0	0	0	0	0	0	0	1	17584	874	31	2		2	ZCCHC2	18	60241837	Silent	SNP	C	TCGA-EJ-7782-01A-11D-2114-08	16993524	60241837	17835411	419	5238											
TMX3	54495	broad.mit.edu	37	chr18	66344197	66344197	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcttcttttctaatacatcCttgggctcctgcactgtagg	6	17	7	11	0	3	0	0	0	3	0	5	0	5	0	2	2	2	3	2	2	3	8			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr18:66344197C>A	ENST00000299608.2	-	16	1654	c.1338G>T	c.(1336-1338)aaG>aaT	p.K446N		NM_019022.3	NP_061895.3	Q96JJ7	TMX3_HUMAN	thioredoxin-related transmembrane protein 3	446					cell redox homeostasis (GO:0045454)|protein folding (GO:0006457)|response to endoplasmic reticulum stress (GO:0034976)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	protein disulfide isomerase activity (GO:0003756)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|urinary_tract(1)	17						CTAATACATCCTTGGGCTCCT	0.353																																						ENST00000299608.2																			0				cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|urinary_tract(1)	17						c.(1336-1338)aaG>aaT		thioredoxin-related transmembrane protein 3							135	113	120					18																	66344197		2203	4300	6503	SO:0001583	missense	54495				cell redox homeostasis|glycerol ether metabolic process	endoplasmic reticulum membrane|integral to membrane	electron carrier activity|protein disulfide isomerase activity|protein disulfide oxidoreductase activity	g.chr18:66344197C>A	BX647846	CCDS32840.1	18q22	2011-10-19	2009-02-23	2009-02-23		ENSG00000166479		"Protein disulfide isomerases"	24718	protein-coding gene	gene with protein product	"protein disulfide isomerase family A, member 13"		"thioredoxin domain containing 10"	TXNDC10		15623505	Standard	NM_019022		Approved	FLJ20793, KIAA1830, PDIA13	uc002lkf.3	Q96JJ7		ENST00000299608.2:c.1338G>T	18.37:g.66344197C>A	ENSP00000299608:p.Lys446Asn						p.K446N	NM_019022.3	NP_061895.3	Q96JJ7	TMX3_HUMAN			16	1654	-			446					B3KV75|Q52LT7|Q8N5J0|Q9NWJ9	Missense_Mutation	SNP	ENST00000299608.2	37	c.1338G>T	CCDS32840.1	.	.	.	.	.	.	.	.	.	.	C	18.07	3.540657	0.65085	.	.	ENSG00000166479	ENST00000299608	T	0.15256	2.44	5.61	-1.48	0.08745	.	0.134608	0.64402	D	0.000018	T	0.24699	0.0599	M	0.65975	2.015	0.80722	D	1	D	0.53151	0.958	P	0.50082	0.63	T	0.05566	-1.0877	10	0.87932	D	0	.	12.1987	0.54313	0.0:0.6069:0.0:0.3931	.	446	Q96JJ7	TMX3_HUMAN	N	446	ENSP00000299608:K446N	ENSP00000299608:K446N	K	-	3	2	TMX3	64495177	0.983000	0.35010	0.725000	0.30721	0.974000	0.67602	0.172000	0.16704	-0.526000	0.06383	0.650000	0.86243	AAG		0.353	TMX3-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000420155.1	NM_019022		7	74	1	0	2.0095e-06	1	2.09102e-06	7	74					A	66344197	C	A	66344197	3	1	94	1	0	0	0	0	1	0	0	0	16265	680	24	5	30	5	TMX3	18	66344197	Missense_Mutation	SNP	C	TCGA-EJ-7782-01A-11D-2114-08	6102360	66344197	11733051	420	5239											
GPX4	22904	broad.mit.edu	37	chr19	1106407	1106407	+	IGR	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtctctccacagttcctcatCgacaagaacggctgcgtggt	8	10	10	13	3	2	1	1	0	1	1	6	2	4	1	2	2	2	2	2	2	2	1			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr19:1106407C>T	ENST00000361757.3	-	0	4922				GPX4_ENST00000354171.8_Silent_p.I170I|GPX4_ENST00000589115.1_Missense_Mutation_p.S162L	NM_014963.2	NP_055778.2	Q9Y2G9	SBNO2_HUMAN	strawberry notch homolog 2 (Drosophila)						bone mineralization (GO:0030282)|bone trabecula morphogenesis (GO:0061430)|macrophage activation involved in immune response (GO:0002281)|negative regulation of transcription, DNA-templated (GO:0045892)|osteoclast fusion (GO:0072675)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of inflammatory response (GO:0050727)|transcription, DNA-templated (GO:0006351)					NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AGTTCCTCATCGACAAGAACG	0.652																																						ENST00000589115.1																			0				endometrium(1)|kidney(2)	3						c.(484-486)tCg>tTg		glutathione peroxidase 4	Glutathione(DB00143)						56	64	61					19																	1106407		2035	4185	6220	SO:0001628	intergenic_variant	2879				multicellular organismal development|phospholipid metabolic process		glutathione peroxidase activity|phospholipid-hydroperoxide glutathione peroxidase activity	g.chr19:1106407C>T	AK074102	CCDS45894.1, CCDS45895.1	19p13.3	2008-02-05	2006-10-06	2006-10-06		ENSG00000064932			29158	protein-coding gene	gene with protein product		615729	"KIAA0963"	KIAA0963		10231032	Standard	NM_014963		Approved	FLJ00173, Stno, Sno	uc002lrk.4	Q9Y2G9			19.37:g.1106407C>T						GPX4_ENST00000354171.8_Silent_p.I170I	p.S162L			P36969	GPX4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	5	521	+		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)	0					A8K8P2|B3KWJ1|O75257|Q3KQX0|Q8TEM0	Missense_Mutation	SNP	ENST00000361757.3	37	c.485C>T	CCDS45894.1																																																																																				0.652	SBNO2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000458065.2	NM_014963		10	36	0	0	0	1	0	10	36					T	1106407	C	T	1106407	1	4	94	0	1	0	0	0	0	0	0	0	6742	876	31	2		2	GPX4	19	1106407	IGR	SNP	C	TCGA-EJ-7782-01A-11D-2114-08		1106407	58022576	421	5240											
CIRBP	1153	broad.mit.edu	37	chr19	1271165	1271165	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgtgaaagacagggagaccCagagatctcggggatttggg	11	8	16	6	1	1	4	0	1	1	3	2	7	1	5	1	4	0	0	1	4	1	2			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr19:1271165C>T	ENST00000588030.1	+	3	390	c.130C>T	c.(130-132)Cag>Tag	p.Q44*	CIRBP_ENST00000589686.1_Nonsense_Mutation_p.Q44*|CIRBP_ENST00000585630.1_Nonsense_Mutation_p.Q44*|CIRBP_ENST00000587896.1_Nonsense_Mutation_p.Q44*|CIRBP_ENST00000320936.5_Nonsense_Mutation_p.Q44*|CIRBP-AS1_ENST00000600215.1_RNA|CIRBP_ENST00000586472.1_Nonsense_Mutation_p.Q44*|CIRBP_ENST00000586773.1_Nonsense_Mutation_p.Q44*|CIRBP_ENST00000589235.1_Nonsense_Mutation_p.Q44*|CIRBP_ENST00000587323.1_Nonsense_Mutation_p.Q44*|CIRBP_ENST00000444172.2_Intron|CIRBP_ENST00000588090.1_Nonsense_Mutation_p.Q44*|CIRBP_ENST00000589660.1_Nonsense_Mutation_p.Q44*|CIRBP-AS1_ENST00000585832.1_RNA|CIRBP_ENST00000591935.1_Nonsense_Mutation_p.Q44*|CIRBP_ENST00000413636.2_Nonsense_Mutation_p.Q44*|CIRBP_ENST00000588230.1_Nonsense_Mutation_p.Q44*|CIRBP_ENST00000589710.1_Nonsense_Mutation_p.Q44*			Q14011	CIRBP_HUMAN	cold inducible RNA binding protein	44	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA stabilization (GO:0048255)|positive regulation of translation (GO:0045727)|response to cold (GO:0009409)|response to UV (GO:0009411)|stress granule assembly (GO:0034063)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|nucleus (GO:0005634)	mRNA 3'-UTR binding (GO:0003730)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|small ribosomal subunit rRNA binding (GO:0070181)|translation repressor activity (GO:0030371)			endometrium(1)|large_intestine(1)|lung(3)	5		Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;0.000332)|all_lung(49;0.000498)|Breast(49;0.0014)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CAGGGAGACCCAGAGATCTCG	0.567																																						ENST00000589710.1																			0				endometrium(1)|large_intestine(1)|lung(3)	5						c.(130-132)Cag>Tag		cold inducible RNA binding protein							108	110	109					19																	1271165		2203	4300	6503	SO:0001587	stop_gained	1153				mRNA stabilization|positive regulation of translation|response to cold|response to UV|stress granule assembly	nucleoplasm|stress granule	mRNA 3'-UTR binding|nucleotide binding|protein binding|SSU rRNA binding|translation repressor activity	g.chr19:1271165C>T	D78134	CCDS12059.1, CCDS74244.1, CCDS74245.1	19p13.3	2013-02-12	2001-11-28		ENSG00000099622	ENSG00000099622		"RNA binding motif (RRM) containing"	1982	protein-coding gene	gene with protein product	"Cold-inducible RNA-binding protein", "glycine-rich RNA binding protein"	602649	"cold inducible RNA-binding protein"			9434172, 9151692	Standard	NM_001280		Approved	CIRP	uc002lrr.4	Q14011		ENST00000588030.1:c.130C>T	19.37:g.1271165C>T	ENSP00000468788:p.Gln44*					CIRBP_ENST00000586773.1_Nonsense_Mutation_p.Q44*|CIRBP_ENST00000586472.1_Nonsense_Mutation_p.Q44*|CIRBP_ENST00000588090.1_Nonsense_Mutation_p.Q44*|CIRBP_ENST00000591935.1_Nonsense_Mutation_p.Q44*|CIRBP_ENST00000413636.2_Nonsense_Mutation_p.Q44*|CIRBP_ENST00000587896.1_Nonsense_Mutation_p.Q44*|CIRBP_ENST00000320936.5_Nonsense_Mutation_p.Q44*|CIRBP_ENST00000588230.1_Nonsense_Mutation_p.Q44*|CIRBP_ENST00000585630.1_Nonsense_Mutation_p.Q44*|CIRBP_ENST00000444172.2_Intron|CIRBP_ENST00000587323.1_Nonsense_Mutation_p.Q44*|CIRBP_ENST00000589660.1_Nonsense_Mutation_p.Q44*|CIRBP_ENST00000589686.1_Nonsense_Mutation_p.Q44*|CIRBP_ENST00000589235.1_Nonsense_Mutation_p.Q44*|CIRBP_ENST00000588030.1_Nonsense_Mutation_p.Q44*	p.Q44*			Q14011	CIRBP_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	3	277	+		Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;0.000332)|all_lung(49;0.000498)|Breast(49;0.0014)	44			RRM.		B3KT17|B4E2X2	Nonsense_Mutation	SNP	ENST00000588030.1	37	c.130C>T	CCDS12059.1	.	.	.	.	.	.	.	.	.	.	C	15.29	2.790734	0.50102	.	.	ENSG00000099622	ENST00000320936;ENST00000413636	.	.	.	4.12	4.12	0.48240	.	0.282775	0.34460	U	0.003942	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.25751	T	0.34	-0.0693	10.4036	0.44243	0.1956:0.8044:0.0:0.0	.	.	.	.	X	44	.	ENSP00000322887:Q44X	Q	+	1	0	CIRBP	1222165	0.995000	0.38212	0.105000	0.21289	0.041000	0.13682	2.785000	0.47782	1.839000	0.53478	0.551000	0.68910	CAG		0.567	CIRBP-011	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449969.1	NM_001280		19	43	0	0	0	1	0	19	43					T	1271165	C	T	1271165	4	4	94	1	0	0	0	0	0	1	0	0	3433	595	21	3	136	3	CIRBP	19	1271165	Nonsense_Mutation	SNP	C	TCGA-EJ-7782-01A-11D-2114-08	164758	1271165	57857818	422	5241											
PCSK4	148223	broad.mit.edu	37	chr19	1482438	1482438	+	5'Flank	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgctgtcatgtcctcggccGtcccatagagcagcagcgtg	6	8	13	14	4	1	1	1	0	0	1	4	1	3	1	3	1	3	3	3	1	1	1			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr19:1482438G>A	ENST00000436106.2	-	0	0				CTB-25B13.6_ENST00000585643.1_RNA|PCSK4_ENST00000300954.5_Missense_Mutation_p.T578M			Q9UFG5	CS025_HUMAN	chromosome 19 open reading frame 25														Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GTCCTCGGCCGTCCCATAGAG	0.682																																						ENST00000300954.5																			0				cervix(2)|endometrium(2)|kidney(1)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	15						c.(1732-1734)aCg>aTg		proprotein convertase subtilisin/kexin type 4							35	38	37					19																	1482438		2203	4300	6503	SO:0001631	upstream_gene_variant	54760				proteolysis	integral to membrane	serine-type endopeptidase activity	g.chr19:1482438G>A	AK075267	CCDS45898.1	19p13.3	2012-10-24			ENSG00000119559	ENSG00000119559			26711	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_152482		Approved	FLJ36666	uc010dsk.3	Q9UFG5	OTTHUMG00000180092		19.37:g.1482438G>A	Exception_encountered						p.T578M	NM_017573.3	NP_060043.2	Q6UW60	PCSK4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	14	1794	-		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)	578					B3KQN6|Q8N9R7|Q8WV94	Missense_Mutation	SNP	ENST00000436106.2	37	c.1733C>T	CCDS45898.1	.	.	.	.	.	.	.	.	.	.	g	16.38	3.108069	0.56291	.	.	ENSG00000115257	ENST00000300954	T	0.66815	-0.23	4.33	4.33	0.51752	Galactose-binding domain-like (1);	0.099074	0.41500	D	0.000874	T	0.69433	0.3110	L	0.54323	1.7	0.43637	D	0.996033	D	0.69078	0.997	P	0.51866	0.682	T	0.74147	-0.3759	10	0.87932	D	0	.	12.6619	0.56820	0.0:0.0:1.0:0.0	.	578	Q6UW60	PCSK4_HUMAN	M	578	ENSP00000300954:T578M	ENSP00000300954:T578M	T	-	2	0	PCSK4	1433438	0.998000	0.40836	0.895000	0.35142	0.338000	0.28826	4.667000	0.61561	2.125000	0.65367	0.457000	0.33378	ACG		0.682	C19orf25-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449694.1	NM_152482		13	18	0	0	0	1	0	13	18					A	1482438	G	A	1482438	1	1	94	0	1	0	0	0	0	0	0	0	11602	1145	40	1		1	PCSK4	19	1482438	5'Flank	SNP	G	TCGA-EJ-7782-01A-11D-2114-08	211273	1482438	57646545	423	5242											
DOT1L	84444	broad.mit.edu	37	chr19	2222180	2222180	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cttcctgcctctcccgcccaCcagctctcctccagtccccg	3	9	5	24	2	2	0	0	0	2	0	7	0	5	0	9	0	2	1	9	0	0	1			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr19:2222180C>T	ENST00000398665.3	+	24	3048	c.3012C>T	c.(3010-3012)caC>caT	p.H1004H		NM_032482.2	NP_115871.1	Q8TEK3	DOT1L_HUMAN	DOT1-like histone H3K79 methyltransferase	1004					histone lysine methylation (GO:0034968)|regulation of JAK-STAT cascade (GO:0046425)|regulation of transcription regulatory region DNA binding (GO:2000677)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription factor binding (GO:0008134)			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(9)	42		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CTCCCGCCCACCAGCTCTCCT	0.701																																						ENST00000398665.3																			0				NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(9)	42						c.(3010-3012)caC>caT		DOT1-like histone H3K79 methyltransferase							31	41	38					19																	2222180		2007	4144	6151	SO:0001819	synonymous_variant	84444					nucleus	DNA binding|histone-lysine N-methyltransferase activity|protein binding	g.chr19:2222180C>T	AF509504	CCDS42460.1	19p13.3	2013-05-21	2013-05-21		ENSG00000104885	ENSG00000104885	2.1.1.43	"Chromatin-modifying enzymes / K-methyltransferases"	24948	protein-coding gene	gene with protein product	"histone methyltransferase DOT1L"	607375	"DOT1-like, histone H3 methyltransferase (S. cerevisiae)"			11347906, 12123582	Standard	NM_032482		Approved	KIAA1814, DOT1, KMT4	uc002lvb.4	Q8TEK3	OTTHUMG00000150431	ENST00000398665.3:c.3012C>T	19.37:g.2222180C>T							p.H1004H	NM_032482.2	NP_115871.1	Q8TEK3	DOT1L_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	24	3048	+		Hepatocellular(1079;0.137)	1004					O60379|Q96JL1	Silent	SNP	ENST00000398665.3	37	c.3012C>T	CCDS42460.1	.	.	.	.	.	.	.	.	.	.	C	3.858	-0.030518	0.07543	.	.	ENSG00000104885	ENST00000440640	.	.	.	4.43	1.01	0.19927	.	.	.	.	.	T	0.42787	0.1218	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.24657	-1.0154	4	.	.	.	-17.6956	1.9619	0.03387	0.1345:0.4887:0.1316:0.2452	.	.	.	.	I	791	.	.	T	+	2	0	DOT1L	2173180	0.989000	0.36119	0.969000	0.41365	0.403000	0.30841	0.118000	0.15605	0.331000	0.23511	0.462000	0.41574	ACC		0.701	DOT1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318066.1	NM_032482		12	16	0	0	0	1	0	12	16					T	2222180	C	T	2222180	2	4	94	1	0	0	0	0	0	0	0	1	4709	506	18	3		3	DOT1L	19	2222180	Silent	SNP	C	TCGA-EJ-7782-01A-11D-2114-08	739742	2222180	56906803	424	5243											
TICAM1	148022	broad.mit.edu	37	chr19	4817623	4817623	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tggcaatctcccccgatggcGgccagctcatctcctcaggc	6	8	10	17	2	4	0	2	0	2	0	6	1	4	0	4	4	1	2	4	4	1	0	rs370345154		TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr19:4817623G>A	ENST00000248244.5	-	2	996	c.767C>T	c.(766-768)cCg>cTg	p.P256L		NM_182919.3	NP_891549.1	Q8IUC6	TCAM1_HUMAN	toll-like receptor adaptor molecule 1	256	Pro-rich.				apoptotic signaling pathway (GO:0097190)|defense response to virus (GO:0051607)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|macrophage activation involved in immune response (GO:0002281)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of chemokine biosynthetic process (GO:0045080)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of natural killer cell activation (GO:0032816)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of protein binding (GO:0032092)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of type I interferon production (GO:0032481)|regulation of protein homodimerization activity (GO:0043496)|response to exogenous dsRNA (GO:0043330)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|endosome membrane (GO:0010008)|ripoptosome (GO:0097342)	protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)			NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	26				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0139)		CCCCGATGGCGGCCAGCTCAT	0.677																																						ENST00000248244.5																			0				NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	26						c.(766-768)cCg>cTg		toll-like receptor adaptor molecule 1		G	LEU/PRO	0,4406		0,0,2203	21	25	24		767	4.4	0.9	19		24	1,8595		0,1,4297	no	missense	TICAM1	NM_182919.2	98	0,1,6500	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	256/713	4817623	1,13001	2203	4298	6501	SO:0001583	missense	148022				apoptosis|I-kappaB kinase/NF-kappaB cascade|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane	protein kinase binding|signal transducer activity	g.chr19:4817623G>A	AB086380	CCDS12136.1	19p13.3	2014-09-17				ENSG00000127666			18348	protein-coding gene	gene with protein product		607601				12539043, 12471095	Standard	NM_182919		Approved	TRIF, TICAM-1, MGC35334, PRVTIRB	uc002mbi.4	Q8IUC6		ENST00000248244.5:c.767C>T	19.37:g.4817623G>A	ENSP00000248244:p.Pro256Leu						p.P256L	NM_182919.3	NP_891549.1	Q8IUC6	TCAM1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0139)	2	996	-			256			Pro-rich.		B3Y691|O75532|Q86XP8|Q96GA0	Missense_Mutation	SNP	ENST00000248244.5	37	c.767C>T	CCDS12136.1	.	.	.	.	.	.	.	.	.	.	G	18.55	3.648739	0.67358	0.0	1.16E-4	ENSG00000127666	ENST00000248244	T	0.54675	0.56	4.37	4.37	0.52481	.	0.235542	0.21899	U	0.067463	T	0.65133	0.2662	M	0.65975	2.015	0.36277	D	0.855535	D	0.76494	0.999	P	0.61800	0.894	T	0.72239	-0.4351	10	0.48119	T	0.1	-23.1906	11.3742	0.49717	0.0:0.0:0.8196:0.1804	.	256	Q8IUC6	TCAM1_HUMAN	L	256	ENSP00000248244:P256L	ENSP00000248244:P256L	P	-	2	0	TICAM1	4768623	0.834000	0.29399	0.882000	0.34594	0.743000	0.42351	2.193000	0.42658	2.134000	0.65973	0.313000	0.20887	CCG		0.677	TICAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450435.1	NM_014261		3	28	0	0	0	1	0	3	28					A	4817623	G	A	4817623	3	1	94	1	0	0	0	0	1	0	0	0	15889	1116	39	2	1375	2	TICAM1	19	4817623	Missense_Mutation	SNP	G	TCGA-EJ-7782-01A-11D-2114-08	2595443	4817623	54311360	425	5244											
MUC16	94025	broad.mit.edu	37	chr19	9058758	9058758	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgccagaggagccaggcattGttgtggaaaccatgttgtct	9	11	13	8	0	1	1	0	0	1	1	1	3	1	3	3	3	3	3	3	3	1	3			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr19:9058758G>C	ENST00000397910.4	-	3	28891	c.28688C>G	c.(28687-28689)aCa>aGa	p.T9563R		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	9565	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GCCAGGCATTGTTGTGGAAAC	0.493																																						ENST00000397910.4																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(28687-28689)aCa>aGa		mucin 16, cell surface associated							88	83	85					19																	9058758		1964	4142	6106	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9058758G>C	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.28688C>G	19.37:g.9058758G>C	ENSP00000381008:p.Thr9563Arg						p.T9563R	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			3	28891	-			9565			Ser-rich.|Thr-rich.		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.28688C>G	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	g	5.133	0.210114	0.09757	.	.	ENSG00000181143	ENST00000397910	T	0.22336	1.96	2.5	0.21	0.15231	.	.	.	.	.	T	0.10294	0.0252	N	0.14661	0.345	.	.	.	P	0.46020	0.871	B	0.40534	0.332	T	0.18085	-1.0348	8	0.87932	D	0	.	2.8612	0.05588	0.1597:0.0:0.5668:0.2734	.	9563	B5ME49	.	R	9563	ENSP00000381008:T9563R	ENSP00000381008:T9563R	T	-	2	0	MUC16	8919758	0.002000	0.14202	0.000000	0.03702	0.180000	0.23129	0.624000	0.24462	0.133000	0.18654	0.305000	0.20034	ACA		0.493	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		31	34	0	0	0	1	0	31	34					C	9058758	G	C	9058758	3	2	94	1	0	0	0	0	1	0	0	0	9973	1377	48	5	15163	5	MUC16	19	9058758	Missense_Mutation	SNP	G	TCGA-EJ-7782-01A-11D-2114-08	4241135	9058758	50070225	426	5245											
ICAM3	3385	broad.mit.edu	37	chr19	10446010	10446011	+	Frame_Shift_Ins	INS	-	-	G																															accggggggccacgaggcgcINSgggggggtcacgggcaggac																										TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr19:10446010_10446011insG	ENST00000160262.5	-	4	876_877	c.668_669insC	c.(667-669)ccgfs	p.P223fs	RAVER1_ENST00000293677.6_5'Flank|ICAM3_ENST00000589261.1_Frame_Shift_Ins_p.P146fs	NM_002162.3	NP_002153.2	P32942	ICAM3_HUMAN	intercellular adhesion molecule 3	223					extracellular matrix organization (GO:0030198)|regulation of immune response (GO:0050776)|single organismal cell-cell adhesion (GO:0016337)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)|receptor binding (GO:0005102)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(2)	13			OV - Ovarian serous cystadenocarcinoma(20;6.13e-09)|Epithelial(33;9.69e-06)|all cancers(31;2.05e-05)			CCACGAGGCGCGGGGGGGTCAC	0.649																																						ENST00000589261.1																			0				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(2)	13						c.(436-438)ccgfs		intercellular adhesion molecule 3																																				SO:0001589	frameshift_variant	3385				cell-cell adhesion|regulation of immune response	integral to plasma membrane	integrin binding	g.chr19:10446010_10446011insG		CCDS12235.1	19p13.3-p13.2	2013-01-11				ENSG00000076662		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5346	protein-coding gene	gene with protein product		146631				1448174	Standard	NM_002162		Approved	CDW50, ICAM-R, CD50	uc002mob.2	P32942		ENST00000160262.5:c.669dupC	19.37:g.10446017_10446017dupG	ENSP00000160262:p.Pro223fs					ICAM3_ENST00000160262.5_Frame_Shift_Ins_p.P223fs	p.P146fs			P32942	ICAM3_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;6.13e-09)|Epithelial(33;9.69e-06)|all cancers(31;2.05e-05)		4	969_970	-			223			Ig-like C2-type 2.		Q6PD68	Frame_Shift_Ins	INS	ENST00000160262.5	37	c.437_438insC	CCDS12235.1																																																																																				0.649	ICAM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451234.1			9	18						9	18	---	---	---	---	G	10446011	-	G	10446010	7	5	94	1	0	1	1	0	0	0	0	0	7481	755	27	0	990	0	ICAM3	19	10446010	Frame_Shift_Ins	INS	-	TCGA-EJ-7782-01A-11D-2114-08	1387252	10446010	48682973	427	5246											
PDE4A	5141	broad.mit.edu	37	chr19	10578250	10578250	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	catttggggaggacacatccGcactcccagctcctggtggc	7	8	12	14	1	0	0	0	0	0	0	3	2	3	2	3	5	1	2	3	5	0	1	rs201190584		TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr19:10578250G>A	ENST00000352831.6	+	15	2724	c.2614G>A	c.(2614-2616)Gca>Aca	p.A872T	PDE4A_ENST00000293683.5_Missense_Mutation_p.A846T|PDE4A_ENST00000344979.3_Missense_Mutation_p.A633T|PDE4A_ENST00000380702.2_Missense_Mutation_p.A850T|PDE4A_ENST00000592685.1_Missense_Mutation_p.A850T|PDE4A_ENST00000440014.2_Missense_Mutation_p.A811T	NM_001111307.1	NP_001104777.1	P27815	PDE4A_HUMAN	phosphodiesterase 4A, cAMP-specific	872					cAMP catabolic process (GO:0006198)|cellular response to drug (GO:0035690)|regulation of cAMP-mediated signaling (GO:0043949)|regulation of protein kinase A signaling (GO:0010738)|sensory perception of smell (GO:0007608)|signal transduction (GO:0007165)	cell projection (GO:0042995)|cytosol (GO:0005829)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|cAMP binding (GO:0030552)|metal ion binding (GO:0046872)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	27			OV - Ovarian serous cystadenocarcinoma(20;5.8e-10)|Epithelial(33;7.58e-07)|all cancers(31;3.91e-06)		Caffeine(DB00201)|Dipyridamole(DB00975)|Drotaverine(DB06751)|Dyphylline(DB00651)|Enprofylline(DB00824)|Ibudilast(DB05266)|Iloprost(DB01088)|Ketotifen(DB00920)|Oxtriphylline(DB01303)|Pentoxifylline(DB00806)|Roflumilast(DB01656)|Theophylline(DB00277)|Tofisopam(DB08811)	GGACACATCCGCACTCCCAGC	0.677																																						ENST00000380702.2																			0				NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	27						c.(2548-2550)Gca>Aca		phosphodiesterase 4A, cAMP-specific	Cilostazol(DB01166)|Dipyridamole(DB00975)|Dyphylline(DB00651)|Enprofylline(DB00824)|Iloprost(DB01088)|Milrinone(DB00235)|Pentoxifylline(DB00806)|Phentolamine(DB00692)|Tadalafil(DB00820)|Theophylline(DB00277)						43	45	44					19																	10578250		2141	4203	6344	SO:0001583	missense	5141				signal transduction	cytosol|membrane fraction|perinuclear region of cytoplasm|ruffle membrane|soluble fraction	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|protein binding	g.chr19:10578250G>A		CCDS12238.1, CCDS45961.1, CCDS45962.1, CCDS45963.1, CCDS58649.1	19p13.2	2010-06-24	2010-06-24			ENSG00000065989	3.1.4.17	"Phosphodiesterases"	8780	protein-coding gene	gene with protein product	"phosphodiesterase E2 dunce homolog (Drosophila)"	600126	"phosphodiesterase 4A, cAMP-specific (dunce (Drosophila)-homolog phosphodiesterase E2)"	DPDE2		8009369	Standard	NM_006202		Approved		uc002moj.2	P27815		ENST00000352831.6:c.2614G>A	19.37:g.10578250G>A	ENSP00000270474:p.Ala872Thr					PDE4A_ENST00000352831.6_Missense_Mutation_p.A872T|PDE4A_ENST00000592685.1_Missense_Mutation_p.A850T|PDE4A_ENST00000440014.2_Missense_Mutation_p.A811T|PDE4A_ENST00000293683.5_Missense_Mutation_p.A846T|PDE4A_ENST00000344979.3_Missense_Mutation_p.A633T	p.A850T			P27815	PDE4A_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;5.8e-10)|Epithelial(33;7.58e-07)|all cancers(31;3.91e-06)		16	2548	+			872					O75522|O76092|Q16255|Q16691|Q5DM53|Q6PMT2|Q8IVA7|Q8WUQ3|Q9H3H2	Missense_Mutation	SNP	ENST00000352831.6	37	c.2548G>A	CCDS45961.1	.	.	.	.	.	.	.	.	.	.	g	6.240	0.412414	0.11812	.	.	ENSG00000065989	ENST00000380702;ENST00000352831;ENST00000293683;ENST00000440014;ENST00000344979	T;T;T;T;T	0.65178	-0.13;-0.13;-0.14;-0.13;0.18	3.84	-4.74	0.03249	.	2.419030	0.01892	N	0.038623	T	0.36552	0.0971	N	0.08118	0	0.09310	N	1	B;B;B;B	0.14805	0.008;0.008;0.011;0.004	B;B;B;B	0.09377	0.004;0.004;0.003;0.001	T	0.16070	-1.0415	10	0.18710	T	0.47	.	5.9641	0.19315	0.253:0.313:0.4341:0.0	.	633;811;846;872	P27815-4;P27815-6;P27815-2;P27815	.;.;.;PDE4A_HUMAN	T	850;872;846;811;633	ENSP00000370078:A850T;ENSP00000270474:A872T;ENSP00000293683:A846T;ENSP00000394754:A811T;ENSP00000341007:A633T	ENSP00000293683:A846T	A	+	1	0	PDE4A	10439250	0.000000	0.05858	0.000000	0.03702	0.049000	0.14656	-1.986000	0.01484	-0.960000	0.03613	0.298000	0.19748	GCA		0.677	PDE4A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000451244.1			5	52	0	0	0	1	0	5	52					A	10578250	G	A	10578250	3	1	94	1	0	0	0	0	1	0	0	0	11639	1087	38	1	3129	1	PDE4A	19	10578250	Missense_Mutation	SNP	G	TCGA-EJ-7782-01A-11D-2114-08	132240	10578250	48550733	428	5247											
ZNF44	51710	broad.mit.edu	37	chr19	12383898	12383898	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	atactgtgcatttatgagggCcatctccagtgtgtgccatc	8	13	10	10	0	1	1	0	1	1	0	3	1	1	1	3	1	3	1	3	1	2	3			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr19:12383898C>T	ENST00000356109.5	-	5	1434	c.1316G>A	c.(1315-1317)gGc>gAc	p.G439D	ZNF44_ENST00000355684.5_Missense_Mutation_p.G391D	NM_001164276.1	NP_001157748.1	P15621	ZNF44_HUMAN	zinc finger protein 44	439					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			ovary(1)	1		Renal(1328;0.157)		GBM - Glioblastoma multiforme(1328;0.0164)|Lung(535;0.179)		TTTATGAGGGCCATCTCCAGT	0.428																																						ENST00000356109.5																			0				ovary(1)	1						c.(1315-1317)gGc>gAc		zinc finger protein 44							80	82	81					19																	12383898		2203	4300	6503	SO:0001583	missense	51710				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton|nucleus	DNA binding|protein binding|zinc ion binding	g.chr19:12383898C>T	X52338	CCDS45988.1, CCDS54223.1	19p13.2	2013-01-08	2006-05-11		ENSG00000197857	ENSG00000197857		"Zinc fingers, C2H2-type", "-"	13110	protein-coding gene	gene with protein product		194542	"zinc finger protein 58", "zinc finger protein 44 (KOX 7)", "zinc finger protein 55"	ZNF58, ZNF55		1946370, 1505991	Standard	NM_016264		Approved	KOX7, ZNF504	uc010xmj.2	P15621	OTTHUMG00000156424	ENST00000356109.5:c.1316G>A	19.37:g.12383898C>T	ENSP00000348419:p.Gly439Asp					ZNF44_ENST00000355684.5_Missense_Mutation_p.G391D	p.G439D	NM_001164276.1	NP_001157748.1	P15621	ZNF44_HUMAN		GBM - Glioblastoma multiforme(1328;0.0164)|Lung(535;0.179)	5	1434	-		Renal(1328;0.157)	439					B4DML9|B9EGJ5|B9ZVM2|P17018|Q9ULZ7	Missense_Mutation	SNP	ENST00000356109.5	37	c.1316G>A	CCDS54223.1	.	.	.	.	.	.	.	.	.	.	C	16.64	3.178539	0.57692	.	.	ENSG00000197857	ENST00000393337;ENST00000356109;ENST00000457673;ENST00000355684	T;T;T	0.17370	2.28;3.18;2.28	0.997	-0.0892	0.13670	Zinc finger, C2H2 (1);	.	.	.	.	T	0.19406	0.0466	N	0.13272	0.32	.	.	.	D;D	0.89917	0.999;1.0	D;D	0.97110	0.984;1.0	T	0.27606	-1.0069	8	0.87932	D	0	.	4.8655	0.13606	0.0:0.2215:0.0:0.7785	.	439;391	P15621;F8W7T7	ZNF44_HUMAN;.	D	439;439;391;391	ENSP00000377008:G439D;ENSP00000348419:G439D;ENSP00000347910:G391D	ENSP00000347910:G391D	G	-	2	0	ZNF44	12244898	0.000000	0.05858	0.005000	0.12908	0.758000	0.43043	-2.231000	0.01206	-0.055000	0.13244	0.305000	0.20034	GGC		0.428	ZNF44-002	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000344132.1	NM_016264		31	68	0	0	0	1	0	31	68					T	12383898	C	T	12383898	3	4	94	1	0	0	0	0	1	0	0	0	17909	739	26	3	679	3	ZNF44	19	12383898	Missense_Mutation	SNP	C	TCGA-EJ-7782-01A-11D-2114-08	1805648	12383898	46745085	429	5248											
CACNA1A	773	broad.mit.edu	37	chr19	13325397	13325397	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atctccttccgcagctcagcGtccatctgctgtttgtcggc	4	13	9	15	3	3	0	1	0	2	0	7	0	5	0	3	1	3	4	3	1	0	2	rs368042511		TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr19:13325397G>A	ENST00000360228.5	-	39	5756	c.5757C>T	c.(5755-5757)gaC>gaT	p.D1919D	CACNA1A_ENST00000573710.2_Silent_p.D1920D	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	1920					adult walking behavior (GO:0007628)|behavioral response to pain (GO:0048266)|calcium ion import (GO:0070509)|calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cell death (GO:0008219)|cell growth (GO:0016049)|cellular chloride ion homeostasis (GO:0030644)|cerebellar molecular layer development (GO:0021679)|cerebellar Purkinje cell differentiation (GO:0021702)|cerebellum maturation (GO:0021590)|dendrite morphogenesis (GO:0048813)|energy reserve metabolic process (GO:0006112)|gamma-aminobutyric acid secretion (GO:0014051)|gamma-aminobutyric acid signaling pathway (GO:0007214)|glucose metabolic process (GO:0006006)|hormone metabolic process (GO:0042445)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|musculoskeletal movement, spinal reflex action (GO:0050883)|negative regulation of hormone biosynthetic process (GO:0032353)|negative regulation of neuron apoptotic process (GO:0043524)|neuromuscular process controlling balance (GO:0050885)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter metabolic process (GO:0042133)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|receptor clustering (GO:0043113)|regulation of acetylcholine secretion, neurotransmission (GO:0014056)|regulation of axonogenesis (GO:0050770)|regulation of calcium ion-dependent exocytosis (GO:0017158)|regulation of insulin secretion (GO:0050796)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|spinal cord motor neuron differentiation (GO:0021522)|sulfur amino acid metabolic process (GO:0000096)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transmission of nerve impulse (GO:0019226)|vestibular nucleus development (GO:0021750)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|syntaxin binding (GO:0019905)|voltage-gated calcium channel activity (GO:0005245)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Loperamide(DB00836)|Pregabalin(DB00230)|Spironolactone(DB00421)|Verapamil(DB00661)	GCAGCTCAGCGTCCATCTGCT	0.582													G|||	1	0.000199681	8e-04	0	5008	,	,		20186	0		0	False		,,,				2504	0					ENST00000360228.5																			0				breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42						c.(5755-5757)gaC>gaT		calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)	G	,,,,	9,4365		0,9,2178	54	59	57		5775,5760,5757,5766,5775	-2.7	0.9	19		57	0,8538		0,0,4269	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	CACNA1A	NM_000068.3,NM_001127221.1,NM_001127222.1,NM_001174080.1,NM_023035.2	,,,,	0,9,6447	AA,AG,GG		0.0,0.2058,0.0697	,,,,	1925/2267,1920/2262,1919/2507,1922/2264,1925/2513	13325397	9,12903	2187	4269	6456	SO:0001819	synonymous_variant	773				cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding	g.chr19:13325397G>A	U79666	CCDS45998.1, CCDS45999.1	19p13	2014-09-17			ENSG00000141837	ENSG00000141837		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1388	protein-coding gene	gene with protein product		601011		CACNL1A4, SCA6, MHP1, MHP		8825650, 16382099, 23827678	Standard	NM_000068		Approved	Cav2.1, EA2, APCA, HPCA, FHM	uc010xne.2	O00555	OTTHUMG00000044590	ENST00000360228.5:c.5757C>T	19.37:g.13325397G>A						CACNA1A_ENST00000573710.2_Silent_p.D1920D	p.D1919D	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		39	5756	-			1920					J3KP41|P78510|P78511|Q16290|Q92690|Q99790|Q99791|Q99792|Q99793|Q9NS88|Q9UDC4	Silent	SNP	ENST00000360228.5	37	c.5757C>T	CCDS45998.1																																																																																				0.582	CACNA1A-001	KNOWN	non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000104062.2	NM_000068		9	14	0	0	0	1	0	9	14					A	13325397	G	A	13325397	2	1	94	1	0	0	0	0	0	0	0	1	2538	1136	40	1		1	CACNA1A	19	13325397	Silent	SNP	G	TCGA-EJ-7782-01A-11D-2114-08	941499	13325397	45803586	430	5249											
CC2D1A	54862	broad.mit.edu	37	chr19	14020732	14020732	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgagttcttggctttggtcGggggccagcccccagccctg	3	10	14	14	1	1	1	0	1	1	0	2	1	1	1	4	4	2	2	4	4	0	3			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr19:14020732G>A	ENST00000318003.7	+	2	398	c.157G>A	c.(157-159)Ggg>Agg	p.G53R	CC2D1A_ENST00000589606.1_Missense_Mutation_p.G53R	NM_017721.4	NP_060191.3	Q6P1N0	C2D1A_HUMAN	coiled-coil and C2 domain containing 1A	53					positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|signal transducer activity (GO:0004871)			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(2)|skin(2)	27			OV - Ovarian serous cystadenocarcinoma(19;3.49e-23)			GGCTTTGGTCGGGGGCCAGCC	0.577																																						ENST00000318003.7																			0				NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(2)|skin(2)	27						c.(157-159)Ggg>Agg		coiled-coil and C2 domain containing 1A							66	68	67					19																	14020732		1934	4137	6071	SO:0001583	missense	54862				positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus|plasma membrane	DNA binding|signal transducer activity	g.chr19:14020732G>A	AF536205	CCDS42512.1	19p13.12	2007-01-08				ENSG00000132024			30237	protein-coding gene	gene with protein product	"mental retardation, nonsyndromic, autosomal recessive, 3"	610055				12761501, 16033914	Standard	NM_017721		Approved	FLJ20241, MRT3	uc002mxo.2	Q6P1N0		ENST00000318003.7:c.157G>A	19.37:g.14020732G>A	ENSP00000313601:p.Gly53Arg					CC2D1A_ENST00000589606.1_Missense_Mutation_p.G53R	p.G53R	NM_017721.4	NP_060191.3	Q6P1N0	C2D1A_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;3.49e-23)		2	398	+			53					Q7Z435|Q86XV0|Q8NF89|Q9H603|Q9NXI1	Missense_Mutation	SNP	ENST00000318003.7	37	c.157G>A	CCDS42512.1	.	.	.	.	.	.	.	.	.	.	G	24.8	4.568755	0.86439	.	.	ENSG00000132024	ENST00000318003;ENST00000389233	T	0.21361	2.01	5.43	5.43	0.79202	.	0.057995	0.64402	D	0.000002	T	0.39517	0.1081	M	0.62154	1.92	0.54753	D	0.999988	D;D	0.69078	0.997;0.996	P;P	0.57720	0.826;0.736	T	0.09907	-1.0653	10	0.52906	T	0.07	-26.5584	16.153	0.81636	0.0:0.0:1.0:0.0	.	53;53	Q6P1N0-2;Q6P1N0	.;C2D1A_HUMAN	R	53;28	ENSP00000313601:G53R	ENSP00000313601:G53R	G	+	1	0	CC2D1A	13881732	1.000000	0.71417	0.994000	0.49952	0.982000	0.71751	7.582000	0.82546	2.547000	0.85894	0.655000	0.94253	GGG		0.577	CC2D1A-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000457954.1	NM_017721		11	30	0	0	0	1	0	11	30					A	14020732	G	A	14020732	3	1	94	1	0	0	0	0	1	0	0	0	2726	1116	39	2	163	2	CC2D1A	19	14020732	Missense_Mutation	SNP	G	TCGA-EJ-7782-01A-11D-2114-08	695335	14020732	45108251	431	5250											
DCAF15	90379	broad.mit.edu	37	chr19	14070466	14070466	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccgcaacctgcggcccatgcGggagcggactgctgtccagg	6	5	15	15	4	0	0	0	0	0	0	1	2	1	2	4	4	5	2	4	4	1	0			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr19:14070466G>A	ENST00000254337.6	+	8	1313	c.1292G>A	c.(1291-1293)cGg>cAg	p.R431Q		NM_138353.2	NP_612362.2	Q66K64	DCA15_HUMAN	DDB1 and CUL4 associated factor 15	431					protein ubiquitination (GO:0016567)					breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)	11						CGGCCCATGCGGGAGCGGACT	0.692											OREG0025301	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000254337.6																			0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)	11						c.(1291-1293)cGg>cAg		DDB1 and CUL4 associated factor 15							49	52	51					19																	14070466		2202	4300	6502	SO:0001583	missense	90379							g.chr19:14070466G>A	BC002926	CCDS32926.1	19p13.12	2009-07-17	2009-07-17	2009-07-17	ENSG00000132017	ENSG00000132017		"DDB1 and CUL4 associated factors"	25095	protein-coding gene	gene with protein product			"chromosome 19 open reading frame 72"	C19orf72			Standard	NM_138353		Approved	MGC99481	uc002mxt.3	Q66K64		ENST00000254337.6:c.1292G>A	19.37:g.14070466G>A	ENSP00000254337:p.Arg431Gln		OREG0025301	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	692		p.R431Q	NM_138353.2	NP_612362.2	Q66K64	DCA15_HUMAN			8	1313	+			431					B3KS86|Q96DW0|Q9BU31	Missense_Mutation	SNP	ENST00000254337.6	37	c.1292G>A	CCDS32926.1	.	.	.	.	.	.	.	.	.	.	g	17.25	3.341782	0.61073	.	.	ENSG00000132017	ENST00000254337	.	.	.	4.81	4.81	0.61882	.	0.190409	0.33631	N	0.004713	T	0.20129	0.0484	L	0.27053	0.805	0.29306	N	0.868355	P	0.47106	0.89	B	0.34418	0.182	T	0.24835	-1.0149	9	0.66056	D	0.02	-16.8447	7.4914	0.27464	0.1873:0.0:0.8127:0.0	.	431	Q66K64	DCA15_HUMAN	Q	431	.	ENSP00000254337:R431Q	R	+	2	0	DCAF15	13931466	0.997000	0.39634	1.000000	0.80357	0.982000	0.71751	2.265000	0.43311	2.218000	0.71995	0.561000	0.74099	CGG		0.692	DCAF15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458099.1	NM_138353		5	52	0	0	0	1	0	5	52					A	14070466	G	A	14070466	3	1	94	1	0	0	0	0	1	0	0	0	4267	1116	39	2	1322	2	DCAF15	19	14070466	Missense_Mutation	SNP	G	TCGA-EJ-7782-01A-11D-2114-08	49734	14070466	45058517	432	5251											
CD97	976	broad.mit.edu	37	chr19	14517970	14517970	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atcggagcttggtgctgaccTatgtgtttaccatcctcaac	8	13	9	11	1	1	1	1	1	0	0	3	2	2	2	3	2	4	3	3	2	3	4			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr19:14517970T>C	ENST00000242786.5	+	18	2385	c.2305T>C	c.(2305-2307)Tat>Cat	p.Y769H	CTC-548K16.5_ENST00000590626.1_RNA|CD97_ENST00000357355.3_Missense_Mutation_p.Y720H|CD97_ENST00000358600.3_Missense_Mutation_p.Y676H|DDX39A_ENST00000592927.1_5'Flank	NM_078481.3	NP_510966.1	P48960	CD97_HUMAN	CD97 molecule	769					cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|cellular component movement (GO:0006928)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|neuropeptide signaling pathway (GO:0007218)	extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						GGTGCTGACCTATGTGTTTAC	0.617																																						ENST00000242786.5																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						c.(2305-2307)Tat>Cat		CD97 molecule							169	137	148					19																	14517970		2203	4300	6503	SO:0001583	missense	976				cell adhesion|cell-cell signaling|cellular component movement|immune response|inflammatory response|neuropeptide signaling pathway	extracellular space|integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding	g.chr19:14517970T>C		CCDS32929.1, CCDS32930.1, CCDS32931.1	19p13	2014-08-08	2006-03-28			ENSG00000123146		"CD molecules", "-", "GPCR / Class B : Orphans"	1711	protein-coding gene	gene with protein product	"leukocyte antigen CD97", "seven-span transmembrane protein", "seven-transmembrane, heterodimeric receptor associated with inflammation", "seven transmembrane helix receptor"	601211	"CD97 antigen"			7636245, 8786105	Standard	NM_078481		Approved	TM7LN1	uc002myl.3	P48960		ENST00000242786.5:c.2305T>C	19.37:g.14517970T>C	ENSP00000242786:p.Tyr769His					CD97_ENST00000357355.3_Missense_Mutation_p.Y720H|CTC-548K16.5_ENST00000590626.1_RNA|CD97_ENST00000358600.3_Missense_Mutation_p.Y676H	p.Y769H	NM_078481.3	NP_510966.1	P48960	CD97_HUMAN			18	2385	+			769					A8K7Z4|B2RBJ9|O00718|O76101|Q8NG72|Q8TBQ7	Missense_Mutation	SNP	ENST00000242786.5	37	c.2305T>C	CCDS32929.1	.	.	.	.	.	.	.	.	.	.	T	14.46	2.542744	0.45280	.	.	ENSG00000123146	ENST00000242786;ENST00000357355;ENST00000358600;ENST00000393059	T;T;T	0.41758	0.99;0.99;0.99	5.16	4.13	0.48395	GPCR, family 2-like (1);	0.000000	0.30762	N	0.008935	T	0.69106	0.3074	M	0.92317	3.295	0.41327	D	0.987212	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.73313	-0.4022	10	0.87932	D	0	.	9.2071	0.37296	0.0:0.0881:0.0:0.9119	.	676;720;769	P48960-2;P48960-3;P48960	.;.;CD97_HUMAN	H	769;720;676;719	ENSP00000242786:Y769H;ENSP00000349918:Y720H;ENSP00000351413:Y676H	ENSP00000242786:Y769H	Y	+	1	0	CD97	14378970	1.000000	0.71417	0.142000	0.22268	0.008000	0.06430	7.320000	0.79064	0.787000	0.33731	0.533000	0.62120	TAT		0.617	CD97-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459821.2	NM_078481		9	86	0	0	0	1	0	9	86					C	14517970	T	C	14517970	3	2	94	1	0	0	0	0	1	0	0	0	3049	1522	53	4	2375	4	CD97	19	14517970	Missense_Mutation	SNP	T	TCGA-EJ-7782-01A-11D-2114-08	447504	14517970	44611013	433	5252											
ILVBL	10994	broad.mit.edu	37	chr19	15233586	15233587	+	Frame_Shift_Del	DEL	CG	CG	-																															catgaagtaggggtacagcaCgtcaacgggcagctccacaa																								rs114838237|rs376908486	byFrequency	TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr19:15233586_15233587delCG	ENST00000263383.3	-	6	772_773	c.633_634delCG	c.(631-636)gacgtgfs	p.V212fs	AC003956.1_ENST00000598450.1_RNA|ILVBL_ENST00000531635.1_5'UTR|ILVBL_ENST00000534378.1_Frame_Shift_Del_p.V105fs	NM_006844.3	NP_006835.2	A1L0T0	ILVBL_HUMAN	ilvB (bacterial acetolactate synthase)-like	212						integral component of membrane (GO:0016021)|membrane (GO:0016020)	magnesium ion binding (GO:0000287)|thiamine pyrophosphate binding (GO:0030976)|transferase activity (GO:0016740)			NS(3)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(1)	26						GGGTACAGCACGTCAACGGGCA	0.629																																						ENST00000263383.3																			0				NS(3)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(1)	26						c.(631-636)gatgfs		ilvB (bacterial acetolactate synthase)-like																																				SO:0001589	frameshift_variant	10994					integral to membrane	magnesium ion binding|thiamine pyrophosphate binding|transferase activity	g.chr19:15233586_15233587delCG	U61263	CCDS12325.1	19p13.1	2008-07-16			ENSG00000105135	ENSG00000105135			6041	protein-coding gene	gene with protein product	"acetolactate synthase homolog"	605770				8954801	Standard	NM_006844		Approved	209L8, AHAS, ILV2H, MGC1269, FLJ39061, MGC19535	uc002nam.3	A1L0T0	OTTHUMG00000165630	ENST00000263383.3:c.633_634delCG	19.37:g.15233586_15233587delCG	ENSP00000263383:p.Val212fs					ILVBL_ENST00000531635.1_5'UTR|ILVBL_ENST00000534378.1_Frame_Shift_Del_p.DV104fs	p.DV211fs	NM_006844.3	NP_006835.2	A1L0T0	ILVBL_HUMAN			6	772_773	-			211					O43341|Q96F08|Q99651|Q9BWN5|Q9UEB2	Frame_Shift_Del	DEL	ENST00000263383.3	37	c.633_634delCG	CCDS12325.1																																																																																				0.629	ILVBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385439.1	NM_006844		28	37						28	37	---	---	---	---	-	15233587	CG	-	15233586	7	5	94	1	0	1	0	1	0	0	0	0	7715	536	19	0	1308	0	ILVBL	19	15233586	Frame_Shift_Del	DEL	CG	TCGA-EJ-7782-01A-11D-2114-08	715616	15233586	43895397	434	5253											
C19orf44	84167	broad.mit.edu	37	chr19	16625316	16625316	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gagctgggtcagccctgaccGcttacagcccggccgtgctg	5	7	14	15	3	1	1	1	1	0	0	1	2	1	1	4	2	5	3	4	2	1	1	rs111870653		TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr19:16625316G>A	ENST00000221671.3	+	7	1900	c.1744G>A	c.(1744-1746)Gct>Act	p.A582T	CTD-3222D19.2_ENST00000409035.1_Intron|C19orf44_ENST00000594035.1_Missense_Mutation_p.A550T	NM_032207.2	NP_115583.1	Q9H6X5	CS044_HUMAN	chromosome 19 open reading frame 44	582										endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|stomach(1)|urinary_tract(2)	16						AGCCCTGACCGCTTACAGCCC	0.672																																						ENST00000221671.3																			0				endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|stomach(1)|urinary_tract(2)	16						c.(1744-1746)Gct>Act		chromosome 19 open reading frame 44							20	21	20					19																	16625316		2203	4290	6493	SO:0001583	missense	84167							g.chr19:16625316G>A	AK025395	CCDS12345.1, CCDS74306.1	19p13.11	2011-11-24			ENSG00000105072	ENSG00000105072			26141	protein-coding gene	gene with protein product						12477932	Standard	NM_032207		Approved	FLJ21742	uc002neh.1	Q9H6X5		ENST00000221671.3:c.1744G>A	19.37:g.16625316G>A	ENSP00000221671:p.Ala582Thr					C19orf44_ENST00000594035.1_Missense_Mutation_p.A550T|CTD-3222D19.2_ENST00000409035.1_Intron	p.A582T	NM_032207.2	NP_115583.1	Q9H6X5	CS044_HUMAN			7	1900	+			582					Q8N6Y7	Missense_Mutation	SNP	ENST00000221671.3	37	c.1744G>A	CCDS12345.1	.	.	.	.	.	.	.	.	.	.	G	14.31	2.497721	0.44455	.	.	ENSG00000105072	ENST00000221671	.	.	.	5.23	5.23	0.72850	.	0.155218	0.45606	D	0.000355	T	0.70631	0.3246	L	0.58428	1.81	0.36056	D	0.841098	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.78076	-0.2345	9	0.87932	D	0	-24.1768	11.3003	0.49302	0.0831:0.0:0.9168:0.0	.	582;255	Q9H6X5;B4DN63	CS044_HUMAN;.	T	582	.	ENSP00000221671:A582T	A	+	1	0	C19orf44	16486316	0.999000	0.42202	0.981000	0.43875	0.209000	0.24338	3.387000	0.52501	2.449000	0.82847	0.561000	0.74099	GCT		0.672	C19orf44-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000461218.1	NM_032207		4	12	0	0	0	1	0	4	12					A	16625316	G	A	16625316	3	1	94	1	0	0	0	0	1	0	0	0	1927	1087	38	1	1766	1	C19orf44	19	16625316	Missense_Mutation	SNP	G	TCGA-EJ-7782-01A-11D-2114-08	1391730	16625316	42503667	435	5254											
MYO9B	4650	broad.mit.edu	37	chr19	17305687	17305687	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccgggagaagcgtgagtcgCgtcggcaaagagggctggag	9	4	20	8	5	0	3	0	1	0	2	2	5	0	4	1	4	1	2	1	4	2	0			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr19:17305687C>T	ENST00000594824.1	+	22	3598	c.3451C>T	c.(3451-3453)Cgt>Tgt	p.R1151C	MYO9B_ENST00000397274.2_Missense_Mutation_p.R1151C|MYO9B_ENST00000595618.1_Missense_Mutation_p.R1151C			Q13459	MYO9B_HUMAN	myosin IXB	1151	Tail.				actin filament-based movement (GO:0030048)|establishment of cell polarity (GO:0030010)|lamellipodium morphogenesis (GO:0072673)|macrophage chemotaxis (GO:0048246)|monocyte chemotaxis (GO:0002548)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|filamentous actin (GO:0031941)|filopodium tip (GO:0032433)|lamellipodium (GO:0030027)|membrane (GO:0016020)|myosin complex (GO:0016459)|perinuclear region of cytoplasm (GO:0048471)|ruffle (GO:0001726)	actin binding (GO:0003779)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|Rho GTPase activator activity (GO:0005100)|zinc ion binding (GO:0008270)			breast(3)|endometrium(9)|kidney(2)|large_intestine(1)|lung(19)|soft_tissue(1)|urinary_tract(4)	39						GCGTGAGTCGCGTCGGCAAAG	0.592																																						ENST00000595618.1																			0				breast(3)|endometrium(9)|kidney(2)|large_intestine(1)|lung(19)|soft_tissue(1)|urinary_tract(4)	39						c.(3451-3453)Cgt>Tgt		myosin IXB							51	61	57					19																	17305687		2168	4272	6440	SO:0001583	missense	4650				actin filament-based movement	cell cortex|cytosol|filamentous actin|myosin complex|perinuclear region of cytoplasm	actin binding|ADP binding|ATP binding|ATPase activity|calmodulin binding|metal ion binding|microfilament motor activity|Rho GTPase activator activity	g.chr19:17305687C>T		CCDS46010.1	19p13.1	2011-09-27				ENSG00000099331		"Myosins / Myosin superfamily : Class IX"	7609	protein-coding gene	gene with protein product		602129		CELIAC4		9226381	Standard	NM_004145		Approved		uc010eak.3	Q13459		ENST00000594824.1:c.3451C>T	19.37:g.17305687C>T	ENSP00000471367:p.Arg1151Cys					MYO9B_ENST00000594824.1_Missense_Mutation_p.R1151C|MYO9B_ENST00000397274.2_Missense_Mutation_p.R1151C	p.R1151C	NM_001130065.1|NM_004145.3	NP_001123537.1|NP_004136.2	Q13459	MYO9B_HUMAN			22	3603	+			1151			Tail.		O75314|Q9NUJ2|Q9UHN0	Missense_Mutation	SNP	ENST00000594824.1	37	c.3451C>T		.	.	.	.	.	.	.	.	.	.	C	13.51	2.257406	0.39896	.	.	ENSG00000099331	ENST00000397274	D	0.86769	-2.17	5.36	3.17	0.36434	.	0.000000	0.48767	D	0.000163	D	0.89354	0.6691	L	0.36672	1.1	0.34300	D	0.68426	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.997;0.997;0.998	D	0.91885	0.5519	10	0.87932	D	0	.	12.5895	0.56436	0.301:0.699:0.0:0.0	.	1151;1151;1157	Q13459;B0I1T6;Q4LE74	MYO9B_HUMAN;.;.	C	1151	ENSP00000380444:R1151C	ENSP00000380444:R1151C	R	+	1	0	MYO9B	17166687	0.804000	0.28969	0.011000	0.14972	0.115000	0.19883	1.487000	0.35540	0.612000	0.30071	0.561000	0.74099	CGT		0.592	MYO9B-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000463236.1			19	35	0	0	0	1	0	19	35					T	17305687	C	T	17305687	3	4	94	1	0	0	0	0	1	0	0	0	10085	768	27	1	3533	1	MYO9B	19	17305687	Missense_Mutation	SNP	C	TCGA-EJ-7782-01A-11D-2114-08	680371	17305687	41823296	436	5255											
GLT25D1	79709	broad.mit.edu	37	chr19	17688792	17688792	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaacaccagccaggtggaggCgctggggatccagatgctgc	9	5	16	11	1	0	1	0	0	0	1	1	4	1	3	3	5	4	2	3	5	1	0			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr19:17688792C>T	ENST00000252599.4	+	9	1280	c.1160C>T	c.(1159-1161)gCg>gTg	p.A387V		NM_024656.2	NP_078932.2	Q8NBJ5	GT251_HUMAN	collagen beta(1-O)galactosyltransferase 1	387					extracellular matrix organization (GO:0030198)|lipopolysaccharide biosynthetic process (GO:0009103)	endoplasmic reticulum lumen (GO:0005788)|membrane (GO:0016020)	procollagen galactosyltransferase activity (GO:0050211)										CAGGTGGAGGCGCTGGGGATC	0.642																																						ENST00000252599.4																			0											c.(1159-1161)gCg>gTg		collagen beta(1-O)galactosyltransferase 1							55	52	53					19																	17688792		2203	4300	6503	SO:0001583	missense	79709							g.chr19:17688792C>T	AK075541	CCDS12363.1	19p13.11	2013-02-27	2013-02-27	2013-02-27	ENSG00000130309	ENSG00000130309			26182	protein-coding gene	gene with protein product			"glycosyltransferase 25 domain containing 1"	GLT25D1		19075007	Standard	NM_024656		Approved	FLJ22329	uc002nhc.1	Q8NBJ5		ENST00000252599.4:c.1160C>T	19.37:g.17688792C>T	ENSP00000252599:p.Ala387Val						p.A387V	NM_024656.2	NP_078932.2					9	1280	+								Q8NC64	Missense_Mutation	SNP	ENST00000252599.4	37	c.1160C>T	CCDS12363.1	.	.	.	.	.	.	.	.	.	.	C	18.66	3.672764	0.67928	.	.	ENSG00000130309	ENST00000379714;ENST00000252599	T	0.78481	-1.18	5.03	3.98	0.46160	.	0.233792	0.42682	D	0.000662	T	0.81240	0.4781	L	0.57130	1.785	0.47862	D	0.999535	D;D	0.63880	0.993;0.973	P;P	0.58620	0.842;0.684	T	0.78710	-0.2098	10	0.33141	T	0.24	-15.4631	10.6404	0.45590	0.3482:0.6518:0.0:0.0	.	115;387	E9PC06;Q8NBJ5	.;GT251_HUMAN	V	115;387	ENSP00000252599:A387V	ENSP00000252599:A387V	A	+	2	0	GLT25D1	17549792	0.051000	0.20477	0.826000	0.32828	0.513000	0.34164	0.481000	0.22260	1.097000	0.41459	0.313000	0.20887	GCG		0.642	COLGALT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464216.1	NM_024656		23	36	0	0	0	1	0	23	36					T	17688792	C	T	17688792	3	4	94	1	0	0	0	0	1	0	0	0	6466	768	27	1	1194	1	GLT25D1	19	17688792	Missense_Mutation	SNP	C	TCGA-EJ-7782-01A-11D-2114-08	383105	17688792	41440191	437	5256											
GMIP	51291	broad.mit.edu	37	chr19	19748735	19748735	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggatgggcctcacccgcctCagcacttcatccccctgaaa	8	7	9	17	1	3	1	3	1	0	0	4	2	4	2	5	2	1	1	5	2	1	1			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr19:19748735C>A	ENST00000203556.4	-	10	1058	c.921G>T	c.(919-921)ctG>ctT	p.L307L	GMIP_ENST00000587238.1_Silent_p.L307L|GMIP_ENST00000445806.2_Silent_p.L307L|GMIP_ENST00000586269.1_5'Flank	NM_016573.2	NP_057657.2	Q9P107	GMIP_HUMAN	GEM interacting protein	307					intracellular signal transduction (GO:0035556)|negative regulation of Rho GTPase activity (GO:0034259)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|intracellular (GO:0005622)	metal ion binding (GO:0046872)|Rho GTPase activator activity (GO:0005100)			breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						TCACCCGCCTCAGCACTTCAT	0.672																																						ENST00000203556.4																			0				breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						c.(919-921)ctG>ctT		GEM interacting protein							60	48	52					19																	19748735		2203	4300	6503	SO:0001819	synonymous_variant	51291				negative regulation of Rho GTPase activity|small GTPase mediated signal transduction	cytosol	metal ion binding|protein binding|Rho GTPase activator activity	g.chr19:19748735C>A	AF132541	CCDS12408.1, CCDS74318.1	19p13.11	2011-09-07				ENSG00000089639		"Rho GTPase activating proteins"	24852	protein-coding gene	gene with protein product		609694				12093360, 16086184	Standard	XM_005259927		Approved	ARHGAP46	uc002nnd.3	Q9P107		ENST00000203556.4:c.921G>T	19.37:g.19748735C>A						GMIP_ENST00000445806.2_Silent_p.L307L|GMIP_ENST00000587238.1_Silent_p.L307L	p.L307L	NM_016573.2	NP_057657.2	Q9P107	GMIP_HUMAN			10	1058	-			307					A0AVN9|B7ZLZ0	Silent	SNP	ENST00000203556.4	37	c.921G>T	CCDS12408.1																																																																																				0.672	GMIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460551.1	NM_016573		8	15	1	0	2.17888e-05	1	2.24902e-05	8	15					A	19748735	C	A	19748735	2	1	94	1	0	0	0	0	0	0	0	1	6491	813	29	5		5	GMIP	19	19748735	Silent	SNP	C	TCGA-EJ-7782-01A-11D-2114-08	2059943	19748735	39380248	438	5257											
GPATCH1	55094	broad.mit.edu	37	chr19	33608948	33608948	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	aacatcatctgtggctcacgGtatgtcagtatttcagactc	10	13	8	10	1	5	1	4	0	1	1	6	1	5	1	0	2	1	3	0	2	3	3			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr19:33608948G>A	ENST00000170564.2	+	16	2727		c.e16+1			NM_018025.2	NP_060495.2	Q9BRR8	GPTC1_HUMAN	G patch domain containing 1						mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)	nucleic acid binding (GO:0003676)			breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|prostate(4)|skin(4)	40	Esophageal squamous(110;0.137)					GTGGCTCACGGTATGTCAGTA	0.478																																					Pancreas(67;88 1713 4567 18227)	ENST00000170564.2																			0				breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|prostate(4)|skin(4)	40						c.e16+1		G patch domain containing 1							58	55	56					19																	33608948		2203	4300	6503	SO:0001630	splice_region_variant	55094					catalytic step 2 spliceosome	nucleic acid binding	g.chr19:33608948G>A	AF434677	CCDS12428.1	19q13.12	2013-01-28		2006-12-13		ENSG00000076650		"G patch domain containing"	24658	protein-coding gene	gene with protein product	"evolutionarily conserved G patch domain containing"			GPATC1		12477932	Standard	NM_018025		Approved	ECGP, FLJ10206, FLJ38686	uc002nug.1	Q9BRR8		ENST00000170564.2:c.2413+1G>A	19.37:g.33608948G>A								NM_018025.2	NP_060495.2	Q9BRR8	GPTC1_HUMAN			16	2727	+	Esophageal squamous(110;0.137)							Q8IZV6|Q8N3B7|Q9NW94	Splice_Site	SNP	ENST00000170564.2	37		CCDS12428.1	.	.	.	.	.	.	.	.	.	.	G	11.64	1.699626	0.30142	.	.	ENSG00000076650	ENST00000170564	.	.	.	4.81	4.81	0.61882	.	.	.	.	.	.	.	.	.	.	.	0.49483	D	0.999794	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.9757	0.71269	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	GPATCH1	38300788	0.989000	0.36119	0.355000	0.25773	0.007000	0.05969	3.808000	0.55598	2.356000	0.79943	0.563000	0.77884	.		0.478	GPATCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450834.1	NM_018025	Intron	7	20	0	0	0	1	0	7	20					A	33608948	G	A	33608948	5	1	94	1	0	0	0	0	0	0	1	0	6590	1275	44	3	2476	3	GPATCH1	19	33608948	Splice_Site	SNP	G	TCGA-EJ-7782-01A-11D-2114-08	13860213	33608948	25520035	439	5258											
LRP3	4037	broad.mit.edu	37	chr19	33697253	33697253	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cttcaagctctactcactgcGcacgcaggaatacaggtggg	10	8	11	12	2	3	0	2	0	1	0	3	1	3	1	0	3	4	3	0	3	4	3			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr19:33697253G>A	ENST00000253193.7	+	5	1779	c.1577G>A	c.(1576-1578)cGc>cAc	p.R526H	CTD-2540B15.13_ENST00000609744.1_RNA	NM_002333.3	NP_002324.2	O75074	LRP3_HUMAN	low density lipoprotein receptor-related protein 3	526					receptor-mediated endocytosis (GO:0006898)	coated pit (GO:0005905)|integral component of membrane (GO:0016021)				breast(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|pancreas(2)	15	Esophageal squamous(110;0.137)					TACTCACTGCGCACGCAGGAA	0.657																																						ENST00000253193.7																			0				breast(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|pancreas(2)	15						c.(1576-1578)cGc>cAc		low density lipoprotein receptor-related protein 3							18	20	19					19																	33697253		2198	4290	6488	SO:0001583	missense	4037				receptor-mediated endocytosis	coated pit|integral to membrane	receptor activity	g.chr19:33697253G>A	AB009462	CCDS12430.1	19q13.11	2013-05-30			ENSG00000130881	ENSG00000130881		"Low density lipoprotein receptors"	6695	protein-coding gene	gene with protein product		603159				9693042, 7959795	Standard	NM_002333		Approved	LRP-3, hLRp105	uc010edh.3	O75074	OTTHUMG00000180343	ENST00000253193.7:c.1577G>A	19.37:g.33697253G>A	ENSP00000253193:p.Arg526His						p.R526H	NM_002333.3	NP_002324.2	O75074	LRP3_HUMAN			5	1779	+	Esophageal squamous(110;0.137)		526					B3KQD6|B4DKF2	Missense_Mutation	SNP	ENST00000253193.7	37	c.1577G>A	CCDS12430.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.389088	0.82902	.	.	ENSG00000130881	ENST00000253193	D	0.91124	-2.79	5.21	5.21	0.72293	.	0.000000	0.85682	D	0.000000	D	0.93867	0.8038	L	0.52905	1.665	0.58432	D	0.999996	D;D	0.89917	1.0;1.0	D;D	0.68621	0.925;0.959	D	0.94396	0.7618	10	0.72032	D	0.01	-44.6616	17.7181	0.88343	0.0:0.0:1.0:0.0	.	526;444	O75074;B7ZAJ9	LRP3_HUMAN;.	H	526	ENSP00000253193:R526H	ENSP00000253193:R526H	R	+	2	0	LRP3	38389093	1.000000	0.71417	1.000000	0.80357	0.737000	0.42083	9.818000	0.99354	2.437000	0.82529	0.491000	0.48974	CGC		0.657	LRP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450842.4			8	17	0	0	0	1	0	8	17					A	33697253	G	A	33697253	3	1	94	1	0	0	0	0	1	0	0	0	8958	1087	38	1	1595	1	LRP3	19	33697253	Missense_Mutation	SNP	G	TCGA-EJ-7782-01A-11D-2114-08	88305	33697253	25431730	440	5259											
APLP1	333	broad.mit.edu	37	chr19	36363411	36363411	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccaccccgaggcccacagacGgtgtggatatttactttggc	8	9	11	13	2	0	1	0	0	0	1	0	3	0	2	4	4	1	0	4	4	2	4			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr19:36363411G>A	ENST00000221891.4	+	7	1069	c.877G>A	c.(877-879)Ggt>Agt	p.G293S	APLP1_ENST00000537454.2_Missense_Mutation_p.G254S|APLP1_ENST00000586861.1_Missense_Mutation_p.G287S	NM_001024807.1|NM_005166.3	NP_001019978.1|NP_005157.1	P51693	APLP1_HUMAN	amyloid beta (A4) precursor-like protein 1	293	O-glycosylated at three sites.				adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|apoptotic process (GO:0006915)|cell adhesion (GO:0007155)|cellular response to norepinephrine stimulus (GO:0071874)|endocytosis (GO:0006897)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|mRNA polyadenylation (GO:0006378)|negative regulation of cAMP biosynthetic process (GO:0030818)|nervous system development (GO:0007399)|organ morphogenesis (GO:0009887)|regulation of translation (GO:0006417)	basement membrane (GO:0005604)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	alpha-2A adrenergic receptor binding (GO:0031694)|alpha-2B adrenergic receptor binding (GO:0031695)|alpha-2C adrenergic receptor binding (GO:0031696)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|transition metal ion binding (GO:0046914)			breast(4)|endometrium(2)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	33	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			GCCCACAGACGGTGTGGATAT	0.567																																						ENST00000221891.4																			0				breast(4)|endometrium(2)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	33						c.(877-879)Ggt>Agt		amyloid beta (A4) precursor-like protein 1							164	160	162					19																	36363411		2203	4300	6503	SO:0001583	missense	333				apoptosis|cell adhesion|cellular response to norepinephrine stimulus|endocytosis|negative regulation of cAMP biosynthetic process|nervous system development|organ morphogenesis	basement membrane|integral to membrane|perinuclear region of cytoplasm|plasma membrane	alpha-2A adrenergic receptor binding|alpha-2B adrenergic receptor binding|alpha-2C adrenergic receptor binding|heparin binding|identical protein binding|metal ion binding	g.chr19:36363411G>A	U48437	CCDS32997.1	19q	2008-07-15							597	protein-coding gene	gene with protein product	"amyloid-like protein 1", "amyloid precursor-like protein 1"	104775				8432545	Standard	NM_001024807		Approved	APLP	uc002ocf.3	P51693		ENST00000221891.4:c.877G>A	19.37:g.36363411G>A	ENSP00000221891:p.Gly293Ser					APLP1_ENST00000586861.1_Missense_Mutation_p.G287S|APLP1_ENST00000537454.2_Missense_Mutation_p.G254S	p.G293S	NM_001024807.1|NM_005166.3	NP_001019978.1|NP_005157.1	P51693	APLP1_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0515)		7	1069	+	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		293					O00113|Q96A92	Missense_Mutation	SNP	ENST00000221891.4	37	c.877G>A	CCDS32997.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.361981	0.82353	.	.	ENSG00000105290	ENST00000537454;ENST00000221891	T;T	0.48201	0.82;0.82	4.89	4.89	0.63831	Amyloidogenic glycoprotein, E2 domain (2);	0.000000	0.48767	D	0.000173	T	0.62660	0.2446	L	0.51422	1.61	0.54753	D	0.999989	D;D;D;D	0.89917	1.0;0.97;1.0;1.0	D;P;D;D	0.91635	0.999;0.765;0.999;0.999	T	0.61628	-0.7024	10	0.41790	T	0.15	-14.0496	15.5407	0.76043	0.0:0.0:1.0:0.0	.	287;254;293;293	B7Z4G8;F5GZ08;P51693-2;P51693	.;.;.;APLP1_HUMAN	S	254;293	ENSP00000441501:G254S;ENSP00000221891:G293S	ENSP00000221891:G293S	G	+	1	0	APLP1	41055251	1.000000	0.71417	0.975000	0.42487	0.478000	0.33099	8.567000	0.90737	2.270000	0.75569	0.462000	0.41574	GGT		0.567	APLP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452564.1	NM_001024807		26	87	0	0	0	1	0	26	87					A	36363411	G	A	36363411	3	1	94	1	0	0	0	0	1	0	0	0	778	1116	39	2	903	2	APLP1	19	36363411	Missense_Mutation	SNP	G	TCGA-EJ-7782-01A-11D-2114-08	2666158	36363411	22765572	441	5260											
RYR1	6261	broad.mit.edu	37	chr19	38937375	38937375	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agctgtgtgcactcatgcccGctccctctggaggctggagc	5	9	13	14	1	2	0	1	0	1	0	3	2	3	2	2	3	4	4	2	3	0	0			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr19:38937375G>A	ENST00000359596.3	+	9	767	c.767G>A	c.(766-768)cGc>cAc	p.R256H	RYR1_ENST00000360985.3_Missense_Mutation_p.R256H|RYR1_ENST00000355481.4_Missense_Mutation_p.R256H			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	256	MIR 3. {ECO:0000255|PROSITE- ProRule:PRU00131}.				calcium ion transport (GO:0006816)|cellular response to caffeine (GO:0071313)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|ossification involved in bone maturation (GO:0043931)|outflow tract morphogenesis (GO:0003151)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|skeletal muscle fiber development (GO:0048741)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|integral component of plasma membrane (GO:0005887)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|voltage-gated calcium channel activity (GO:0005245)			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	ACTCATGCCCGCTCCCTCTGG	0.602																																						ENST00000355481.4																			0				NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285						c.(766-768)cGc>cAc		ryanodine receptor 1 (skeletal)	Dantrolene(DB01219)						46	46	46					19																	38937375		2203	4300	6503	SO:0001583	missense	6261				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr19:38937375G>A	J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"Ion channels / Ryanodine receptors"	10483	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 137"	180901	"central core disease of muscle"	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.767G>A	19.37:g.38937375G>A	ENSP00000352608:p.Arg256His					RYR1_ENST00000359596.3_Missense_Mutation_p.R256H|RYR1_ENST00000360985.3_Missense_Mutation_p.R256H	p.R256H	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		9	898	+	all_cancers(60;7.91e-06)		256			MIR 3.		Q16314|Q16368|Q9NPK1|Q9P1U4	Missense_Mutation	SNP	ENST00000359596.3	37	c.767G>A	CCDS33011.1	.	.	.	.	.	.	.	.	.	.	G	17.94	3.511990	0.64522	.	.	ENSG00000196218	ENST00000359596;ENST00000355481;ENST00000360985	D;D;D	0.90385	-2.66;-2.66;-2.66	4.31	4.31	0.51392	MIR motif (2);MIR (2);	0.000000	0.64402	U	0.000009	D	0.94804	0.8322	M	0.77103	2.36	0.47407	D	0.999416	D;D	0.89917	1.0;1.0	D;D	0.97110	0.998;1.0	D	0.95349	0.8445	10	0.87932	D	0	.	14.3051	0.66380	0.0:0.0:1.0:0.0	.	256;256	P21817-2;P21817	.;RYR1_HUMAN	H	256	ENSP00000352608:R256H;ENSP00000347667:R256H;ENSP00000354254:R256H	ENSP00000347667:R256H	R	+	2	0	RYR1	43629215	1.000000	0.71417	1.000000	0.80357	0.816000	0.46133	9.215000	0.95146	2.242000	0.73789	0.563000	0.77884	CGC		0.602	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1			15	36	0	0	0	1	0	15	36					A	38937375	G	A	38937375	3	1	94	1	0	0	0	0	1	0	0	0	13768	1087	38	1	801	1	RYR1	19	38937375	Missense_Mutation	SNP	G	TCGA-EJ-7782-01A-11D-2114-08	2573964	38937375	20191608	442	5261											
PAF1	55588	broad.mit.edu	37	chr19	39879989	39879989	+	5'Flank	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggagatgtactctgtctttcGcatccatggcaccaccttcg	7	12	9	13	2	2	1	0	0	2	1	5	2	3	1	3	2	1	3	3	2	1	3			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr19:39879989G>A	ENST00000599213.2	+	0	0				MED29_ENST00000315588.5_5'Flank|PAF1_ENST00000595564.1_Nonsense_Mutation_p.R122*|MED29_ENST00000594368.1_5'Flank|PAF1_ENST00000221266.7_Nonsense_Mutation_p.R122*|PAF1_ENST00000221265.3_Nonsense_Mutation_p.R132*			Q9NX70	MED29_HUMAN	mediator complex subunit 29						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	mediator complex (GO:0016592)|nucleus (GO:0005634)				lung(2)|ovary(1)|pancreas(1)	4	all_cancers(60;7.82e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;1.88e-06)|Ovarian(47;0.0512)		Epithelial(26;1.04e-26)|all cancers(26;7.68e-24)|Lung(45;0.000168)|LUSC - Lung squamous cell carcinoma(53;0.000199)			TCTGTCTTTCGCATCCATGGC	0.542																																						ENST00000221265.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(4)|pancreas(1)|prostate(1)|urinary_tract(2)	17						c.(394-396)Cga>Tga		Paf1, RNA polymerase II associated factor, homolog (S. cerevisiae)							106	95	98					19																	39879989		2203	4300	6503	SO:0001631	upstream_gene_variant	54623				histone H2B ubiquitination|histone monoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Cdc73/Paf1 complex	protein binding	g.chr19:39879989G>A	AL137304, AY729650	CCDS33021.1	19q13.2	2007-07-30	2007-07-30	2007-07-30		ENSG00000063322			23074	protein-coding gene	gene with protein product		612914	"intersex-like (Drosophila)"	IXL		15555573	Standard	NM_017592		Approved	DKFZp434H247	uc010xux.3	Q9NX70			19.37:g.39879989G>A	Exception_encountered					PAF1_ENST00000595564.1_Nonsense_Mutation_p.R122*|PAF1_ENST00000221266.7_Nonsense_Mutation_p.R122*	p.R132*	NM_019088.3	NP_061961.2	Q8N7H5	PAF1_HUMAN	Epithelial(26;9.6e-28)|all cancers(26;9.14e-25)|Lung(45;0.000168)|LUSC - Lung squamous cell carcinoma(53;0.000199)		6	724	-	all_cancers(60;9.14e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;1.88e-06)|Ovarian(47;0.0512)		132					B4DNQ6|M0R2E4|Q5XX09|Q9NTF4	Nonsense_Mutation	SNP	ENST00000599213.2	37	c.394C>T		.	.	.	.	.	.	.	.	.	.	g	38	6.653719	0.97739	.	.	ENSG00000006712	ENST00000221265;ENST00000221266;ENST00000416728	.	.	.	5.31	3.08	0.35506	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-13.611	10.8485	0.46757	0.0:0.0:0.5179:0.4821	.	.	.	.	X	132;122;79	.	ENSP00000221265:R132X	R	-	1	2	PAF1	44571829	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	4.043000	0.57354	1.435000	0.47434	0.558000	0.71614	CGA		0.542	MED29-011	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000470870.1	XM_290829		22	54	0	0	0	1	0	22	54					A	39879989	G	A	39879989	1	1	94	0	1	0	0	0	0	0	0	0	11383	1095	38	1		1	PAF1	19	39879989	5'Flank	SNP	G	TCGA-EJ-7782-01A-11D-2114-08	942614	39879989	19248994	443	5262											
DYRK1B	9149	broad.mit.edu	37	chr19	40316612	40316612	+	Frame_Shift_Del	DEL	G	G	-																															acgaccaaggtatcggggctGggggggtaactgggccccgg																										TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr19:40316612delG	ENST00000593685.1	-	11	2101	c.1633delC	c.(1633-1635)cagfs	p.Q545fs	DYRK1B_ENST00000348817.3_Frame_Shift_Del_p.Q517fs|DYRK1B_ENST00000430012.2_Frame_Shift_Del_p.Q505fs|DYRK1B_ENST00000323039.5_Frame_Shift_Del_p.Q545fs|DYRK1B_ENST00000597639.1_Frame_Shift_Del_p.Q517fs			Q9Y463	DYR1B_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1B	545					adipose tissue development (GO:0060612)|myoblast fusion (GO:0007520)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)|transcription coactivator activity (GO:0003713)			central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(7)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	24	all_cancers(60;5.79e-06)|all_lung(34;5.2e-08)|Lung NSC(34;6.14e-08)|Ovarian(47;0.06)		Epithelial(26;5.74e-25)|OV - Ovarian serous cystadenocarcinoma(5;3.13e-24)|all cancers(26;8.59e-23)			TATCGGGGCTGGGGGGGTAAC	0.692																																						ENST00000593685.1																			0				central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(7)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	24						c.(1633-1635)agfs		dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1B							22	28	26					19																	40316612		2161	4245	6406	SO:0001589	frameshift_variant	9149				positive regulation of transcription, DNA-dependent	nucleus	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|transcription coactivator activity	g.chr19:40316612delG	Y17999	CCDS12543.1, CCDS12544.1, CCDS46075.1	19q13.2	2012-10-02			ENSG00000105204	ENSG00000105204	2.7.12.1		3092	protein-coding gene	gene with protein product	"minibrain-related kinase"	604556				9918863	Standard	XM_005259395		Approved	MIRK	uc002omj.3	Q9Y463		ENST00000593685.1:c.1633delC	19.37:g.40316612delG	ENSP00000469863:p.Gln545fs					DYRK1B_ENST00000323039.5_Frame_Shift_Del_p.Q545fs|DYRK1B_ENST00000348817.3_Frame_Shift_Del_p.Q517fs|DYRK1B_ENST00000597639.1_Frame_Shift_Del_p.Q517fs|DYRK1B_ENST00000430012.2_Frame_Shift_Del_p.Q505fs	p.Q545fs			Q9Y463	DYR1B_HUMAN	Epithelial(26;5.74e-25)|OV - Ovarian serous cystadenocarcinoma(5;3.13e-24)|all cancers(26;8.59e-23)		11	2101	-	all_cancers(60;5.79e-06)|all_lung(34;5.2e-08)|Lung NSC(34;6.14e-08)|Ovarian(47;0.06)		545					O75258|O75788|O75789	Frame_Shift_Del	DEL	ENST00000593685.1	37	c.1633delC	CCDS12543.1																																																																																				0.692	DYRK1B-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462874.2	NM_004714		10	45						10	45	---	---	---	---	-	40316612	G	-	40316612	7	5	94	1	0	1	0	1	0	0	0	0	4855	1357	47	0	260	0	DYRK1B	19	40316612	Frame_Shift_Del	DEL	G	TCGA-EJ-7782-01A-11D-2114-08	436623	40316612	18812371	444	5263											
AXL	558	broad.mit.edu	37	chr19	41744449	41744449	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgtgcattggcaagagcccCgggcgcccctgcagggtacc	6	6	14	15	3	0	1	0	0	0	1	1	1	0	1	5	3	4	4	5	3	2	2	rs143593613		TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr19:41744449C>T	ENST00000301178.4	+	8	1259	c.1069C>T	c.(1069-1071)Cgg>Tgg	p.R357W	AXL_ENST00000359092.3_Missense_Mutation_p.R357W|AXL_ENST00000593513.1_Missense_Mutation_p.R89W	NM_001278599.1|NM_021913.3	NP_001265528.1|NP_068713	P30530	UFO_HUMAN	AXL receptor tyrosine kinase	357	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				apoptotic cell clearance (GO:0043277)|blood vessel remodeling (GO:0001974)|cell maturation (GO:0048469)|cellular response to extracellular stimulus (GO:0031668)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to interferon-alpha (GO:0035457)|cellular response to lipopolysaccharide (GO:0071222)|dendritic cell differentiation (GO:0097028)|enzyme linked receptor protein signaling pathway (GO:0007167)|erythrocyte homeostasis (GO:0034101)|forebrain cell migration (GO:0021885)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|natural killer cell differentiation (GO:0001779)|negative regulation of dendritic cell apoptotic process (GO:2000669)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of lymphocyte activation (GO:0051250)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of tumor necrosis factor production (GO:0032720)|neuron migration (GO:0001764)|organ regeneration (GO:0031100)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phagocytosis (GO:0006909)|platelet activation (GO:0030168)|positive regulation of cytokine-mediated signaling pathway (GO:0001961)|positive regulation of natural killer cell differentiation (GO:0032825)|positive regulation of protein kinase B signaling (GO:0051897)|protein kinase B signaling (GO:0043491)|secretion by cell (GO:0032940)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)|substrate adhesion-dependent cell spreading (GO:0034446)|vagina development (GO:0060068)	cell surface (GO:0009986)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|phosphatidylserine binding (GO:0001786)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	48						GCAAGAGCCCCGGGCGCCCCT	0.647																																						ENST00000301178.4																			0				breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	48						c.(1069-1071)Cgg>Tgg		AXL receptor tyrosine kinase		C	TRP/ARG,TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	25	28	27		1069,1069	-0.7	0	19	dbSNP_134	27	0,8600		0,0,4300	no	missense,missense	AXL	NM_001699.4,NM_021913.3	101,101	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging,probably-damaging	357/886,357/895	41744449	1,13005	2203	4300	6503	SO:0001583	missense	558					integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr19:41744449C>T	M76125	CCDS12574.1, CCDS12575.1, CCDS62677.1	19q13.1	2013-02-11				ENSG00000167601	2.7.10.1	"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	905	protein-coding gene	gene with protein product		109135				1656220	Standard	NM_021913		Approved	UFO, JTK11	uc010ehj.3	P30530		ENST00000301178.4:c.1069C>T	19.37:g.41744449C>T	ENSP00000301178:p.Arg357Trp					AXL_ENST00000359092.3_Missense_Mutation_p.R357W|AXL_ENST00000593513.1_Missense_Mutation_p.R89W	p.R357W	NM_001278599.1|NM_021913.3	NP_001265528.1|NP_068713.2	P30530	UFO_HUMAN			8	1259	+			357			Fibronectin type-III 2.		Q8N5L2|Q9UD27	Missense_Mutation	SNP	ENST00000301178.4	37	c.1069C>T	CCDS12575.1	.	.	.	.	.	.	.	.	.	.	c	16.06	3.016344	0.54468	2.27E-4	0.0	ENSG00000167601	ENST00000301178;ENST00000359092	T;T	0.58506	0.33;0.33	4.36	-0.732	0.11147	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.329934	0.28290	N	0.015894	T	0.62925	0.2468	M	0.61703	1.905	0.09310	N	1	D;D	0.76494	0.999;0.999	P;P	0.59761	0.785;0.863	T	0.56402	-0.7985	10	0.72032	D	0.01	-5.6457	7.8772	0.29601	0.3016:0.5988:0.0996:0.0	.	357;357	P30530-2;P30530	.;UFO_HUMAN	W	357	ENSP00000301178:R357W;ENSP00000351995:R357W	ENSP00000301178:R357W	R	+	1	2	AXL	46436289	0.020000	0.18652	0.004000	0.12327	0.807000	0.45602	0.604000	0.24164	-0.048000	0.13401	0.297000	0.19635	CGG		0.647	AXL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000463323.2			14	14	0	0	0	1	0	14	14					T	41744449	C	T	41744449	3	4	94	1	0	0	0	0	1	0	0	0	1238	643	23	2	1099	2	AXL	19	41744449	Missense_Mutation	SNP	C	TCGA-EJ-7782-01A-11D-2114-08	1427837	41744449	17384534	445	5264											
ZNF224	7767	broad.mit.edu	37	chr19	44611289	44611289	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atacgtgtgataagagctttCgtcagagatcagcacttaat	13	12	9	7	2	2	3	2	1	0	2	3	4	2	3	0	0	3	2	0	0	3	4			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr19:44611289C>T	ENST00000336976.6	+	6	1230	c.976C>T	c.(976-978)Cgt>Tgt	p.R326C	AC084219.4_ENST00000592946.1_RNA	NM_013398.2	NP_037530.2	Q9NZL3	ZN224_HUMAN	zinc finger protein 224	326					negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nuclear membrane (GO:0031965)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(2)|prostate(1)|stomach(2)|urinary_tract(1)	19		Prostate(69;0.0435)				TAAGAGCTTTCGTCAGAGATC	0.433																																						ENST00000336976.6																			0				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(2)|prostate(1)|stomach(2)|urinary_tract(1)	19						c.(976-978)Cgt>Tgt		zinc finger protein 224							173	168	169					19																	44611289		2203	4300	6503	SO:0001583	missense	7767				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	transcriptional repressor complex	DNA binding|protein binding|zinc ion binding	g.chr19:44611289C>T	AF187990	CCDS33046.1	19q13.2	2013-01-08	2004-02-13			ENSG00000267680		"Zinc fingers, C2H2-type", "-"	13017	protein-coding gene	gene with protein product		194555	"zinc finger protein 255", "zinc finger protein 27"	ZNF255, ZNF27			Standard	NM_013398		Approved	BMZF-2, KOX22	uc002oyh.2	Q9NZL3		ENST00000336976.6:c.976C>T	19.37:g.44611289C>T	ENSP00000337368:p.Arg326Cys					AC084219.4_ENST00000592946.1_RNA	p.R326C	NM_013398.2	NP_037530.2	Q9NZL3	ZN224_HUMAN			6	1230	+		Prostate(69;0.0435)	326					A6NFW9|P17033|Q86V10|Q8IZC8|Q9UID9|Q9Y2P6	Missense_Mutation	SNP	ENST00000336976.6	37	c.976C>T	CCDS33046.1	.	.	.	.	.	.	.	.	.	.	c	16.41	3.116016	0.56505	.	.	ENSG00000186019	ENST00000336976	T	0.18502	2.21	2.4	-0.0686	0.13755	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.21427	0.0516	L	0.33710	1.025	0.09310	N	1	D	0.76494	0.999	D	0.64877	0.93	T	0.12760	-1.0535	9	0.46703	T	0.11	.	3.207	0.06670	0.3078:0.2185:0.0:0.4736	.	326	Q9NZL3	ZN224_HUMAN	C	326	ENSP00000337368:R326C	ENSP00000337368:R326C	R	+	1	0	ZNF224	49303129	0.000000	0.05858	0.000000	0.03702	0.924000	0.55760	-2.168000	0.01270	-0.043000	0.13513	0.591000	0.81541	CGT		0.433	ZNF224-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460477.1	NM_013398		17	136	0	0	0	1	0	17	136					T	44611289	C	T	44611289	3	4	94	1	0	0	0	0	1	0	0	0	17775	884	31	2	990	2	ZNF224	19	44611289	Missense_Mutation	SNP	C	TCGA-EJ-7782-01A-11D-2114-08	2866840	44611289	14517694	446	5265											
MARK4	57787	broad.mit.edu	37	chr19	45805663	45805664	+	Frame_Shift_Ins	INS	-	-	C																															ttgggatcaaacggaaaccgINSccccccggctgctccgattc																										TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr19:45805663_45805664insC	ENST00000262891.4	+	17	2285_2286	c.1954_1955insC	c.(1954-1956)gccfs	p.A652fs	MARK4_ENST00000300843.4_Frame_Shift_Ins_p.P679fs	NM_001199867.1	NP_001186796.1	Q96L34	MARK4_HUMAN	MAP/microtubule affinity-regulating kinase 4	652					microtubule bundle formation (GO:0001578)|microtubule cytoskeleton organization (GO:0000226)|nervous system development (GO:0007399)|positive regulation of programmed cell death (GO:0043068)|protein phosphorylation (GO:0006468)	centrosome (GO:0005813)|microtubule cytoskeleton (GO:0015630)|microtubule organizing center (GO:0005815)|neuron projection (GO:0043005)	ATP binding (GO:0005524)|gamma-tubulin binding (GO:0043015)|microtubule binding (GO:0008017)|protein serine/threonine kinase activity (GO:0004674)|tau-protein kinase activity (GO:0050321)|ubiquitin binding (GO:0043130)			NS(1)|biliary_tract(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	31		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0102)		AACGGAAACCGCCCCCCGGCTG	0.639																																						ENST00000300843.4																			0				NS(1)|biliary_tract(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	31						c.(2032-2037)ccccccfs		MAP/microtubule affinity-regulating kinase 4																																				SO:0001589	frameshift_variant	57787				microtubule bundle formation|nervous system development|positive regulation of programmed cell death	centrosome|neuron projection	ATP binding|gamma-tubulin binding|microtubule binding|protein serine/threonine kinase activity|tau-protein kinase activity|ubiquitin binding	g.chr19:45805663_45805664insC	AB049127	CCDS12658.1, CCDS56097.1	19q13.32	2014-04-07	2002-06-12	2002-06-14	ENSG00000007047	ENSG00000007047	2.7.11.1		13538	protein-coding gene	gene with protein product		606495	"MAP/microtubule affinity-regulating kinase like 1"	MARKL1		23400999, 11326310, 9108484	Standard	NM_001199867		Approved	Nbla00650, FLJ90097, KIAA1860, PAR-1D	uc002paz.2	Q96L34	OTTHUMG00000181769	ENST00000262891.4:c.1960dupC	19.37:g.45805669_45805669dupC	ENSP00000262891:p.Ala652fs					MARK4_ENST00000262891.4_Frame_Shift_Ins_p.P652fs	p.PP678fs	NM_031417.3	NP_113605.2	Q96L34	MARK4_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0102)	18	2331_2332	+		all_neural(266;0.224)|Ovarian(192;0.231)	0					Q8NG37|Q96JG7|Q96SQ2|Q9BYD8	Frame_Shift_Ins	INS	ENST00000262891.4	37	c.2034_2035insC	CCDS56097.1																																																																																				0.639	MARK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457537.1	NM_031417		42	132						42	132	---	---	---	---	C	45805664	-	C	45805663	7	5	94	1	0	1	1	0	0	0	0	0	9315	1074	38	0	2104	0	MARK4	19	45805663	Frame_Shift_Ins	INS	-	TCGA-EJ-7782-01A-11D-2114-08	1194374	45805663	13323320	447	5266											
CCDC8	83987	broad.mit.edu	37	chr19	46914607	46914607	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccggcgcttgcaaaaccaCgaaaagcgtccaggggtctg	10	6	12	13	4	1	0	0	0	1	0	3	1	3	0	3	3	3	2	3	3	4	1	rs34235823		TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr19:46914607C>T	ENST00000307522.3	-	1	2234	c.1461G>A	c.(1459-1461)tcG>tcA	p.S487S		NM_032040.4	NP_114429.2	Q9H0W5	CCDC8_HUMAN	coiled-coil domain containing 8	487					microtubule cytoskeleton organization (GO:0000226)|negative regulation of phosphatase activity (GO:0010923)|regulation of mitosis (GO:0007088)	3M complex (GO:1990393)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(262;4.66e-05)|all cancers(93;0.000582)|Epithelial(262;0.00428)|GBM - Glioblastoma multiforme(486;0.0421)		TGCAAAACCACGAAAAGCGTC	0.627																																						ENST00000307522.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	23						c.(1459-1461)tcG>tcA		coiled-coil domain containing 8							58	61	60					19																	46914607		2203	4300	6503	SO:0001819	synonymous_variant	83987					plasma membrane		g.chr19:46914607C>T	BC025243	CCDS12685.1	19q13.33	2012-04-17			ENSG00000169515	ENSG00000169515		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	25367	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 20"	614145				11230166	Standard	NM_032040		Approved	DKFZp564K0322, 3M3, PPP1R20	uc002pep.3	Q9H0W5	OTTHUMG00000162348	ENST00000307522.3:c.1461G>A	19.37:g.46914607C>T							p.S487S	NM_032040.4	NP_114429.2	Q9H0W5	CCDC8_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;4.66e-05)|all cancers(93;0.000582)|Epithelial(262;0.00428)|GBM - Glioblastoma multiforme(486;0.0421)	1	2234	-			487					Q8TB26	Silent	SNP	ENST00000307522.3	37	c.1461G>A	CCDS12685.1																																																																																				0.627	CCDC8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368598.1	NM_032040		4	52	0	0	0	1	0	4	52					T	46914607	C	T	46914607	2	4	94	1	0	0	0	0	0	0	0	1	2853	523	19	1		1	CCDC8	19	46914607	Silent	SNP	C	TCGA-EJ-7782-01A-11D-2114-08	1108944	46914607	12214376	448	5267											
PTGIR	5739	broad.mit.edu	37	chr19	47127100	47127100	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcggggcccgtccagctgcGcgtagaggtaggggtggctc	5	6	19	11	4	0	1	0	0	0	1	2	1	1	1	2	6	3	4	2	6	2	2	rs201125347		TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr19:47127100G>A	ENST00000291294.2	-	2	516	c.383C>T	c.(382-384)gCg>gTg	p.A128V	PTGIR_ENST00000597185.1_Intron|PTGIR_ENST00000596260.1_Missense_Mutation_p.A128V|PTGIR_ENST00000598865.1_Intron|PTGIR_ENST00000594275.1_Intron	NM_000960.3	NP_000951.1	P43119	PI2R_HUMAN	prostaglandin I2 (prostacyclin) receptor (IP)	128					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|blood coagulation (GO:0007596)|cell-cell signaling (GO:0007267)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|negative regulation of platelet-derived growth factor receptor signaling pathway (GO:0010642)|negative regulation of smooth muscle cell proliferation (GO:0048662)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of GTPase activity (GO:0043547)|response to lipopolysaccharide (GO:0032496)	cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|guanyl-nucleotide exchange factor activity (GO:0005085)			endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	13		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000327)|all cancers(93;0.000641)|Epithelial(262;0.0174)|GBM - Glioblastoma multiforme(486;0.0331)	Dinoprost Tromethamine(DB01160)|Epoprostenol(DB01240)|Iloprost(DB01088)|Treprostinil(DB00374)	GTCCAGCTGCGCGTAGAGGTA	0.692																																						ENST00000291294.2																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	13						c.(382-384)gCg>gTg		prostaglandin I2 (prostacyclin) receptor (IP)	Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Epoprostenol(DB01240)|Iloprost(DB01088)|Misoprostol(DB00929)	G	VAL/ALA	0,4252		0,0,2126	11	11	11		383	4.8	1	19		11	1,8333		0,1,4166	no	missense	PTGIR	NM_000960.3	64	0,1,6292	AA,AG,GG		0.012,0.0,0.0079	benign	128/387	47127100	1,12585	2126	4167	6293	SO:0001583	missense	0				cell-cell signaling|G-protein signaling, coupled to cyclic nucleotide second messenger|platelet activation	integral to plasma membrane	G-protein coupled receptor activity|guanyl-nucleotide exchange factor activity	g.chr19:47127100G>A		CCDS12686.1	19q13.3	2012-08-08				ENSG00000160013		"GPCR / Class A : Prostanoid receptors"	9602	protein-coding gene	gene with protein product		600022				7759114	Standard	NM_000960		Approved	IP	uc002pex.3	P43119		ENST00000291294.2:c.383C>T	19.37:g.47127100G>A	ENSP00000291294:p.Ala128Val					PTGIR_ENST00000597185.1_Intron|PTGIR_ENST00000594275.1_Intron|PTGIR_ENST00000598865.1_Intron|PTGIR_ENST00000596260.1_Missense_Mutation_p.A128V	p.A128V	NM_000960.3	NP_000951.1	P43119	PI2R_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000327)|all cancers(93;0.000641)|Epithelial(262;0.0174)|GBM - Glioblastoma multiforme(486;0.0331)	2	516	-		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)	128						Missense_Mutation	SNP	ENST00000291294.2	37	c.383C>T	CCDS12686.1	.	.	.	.	.	.	.	.	.	.	G	14.21	2.466029	0.43839	0.0	1.2E-4	ENSG00000160013	ENST00000291294	T	0.72282	-0.64	4.85	4.85	0.62838	GPCR, rhodopsin-like superfamily (1);	0.066528	0.64402	D	0.000012	T	0.69070	0.3070	M	0.65975	2.015	0.35840	D	0.825957	B	0.25772	0.134	B	0.26202	0.067	T	0.72337	-0.4324	10	0.33141	T	0.24	-7.9405	15.5026	0.75713	0.0:0.0:1.0:0.0	.	128	P43119	PI2R_HUMAN	V	128	ENSP00000291294:A128V	ENSP00000291294:A128V	A	-	2	0	PTGIR	51818940	0.995000	0.38212	0.998000	0.56505	0.608000	0.37181	2.596000	0.46205	2.511000	0.84671	0.563000	0.77884	GCG		0.692	PTGIR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466581.1			9	10	0	0	0	1	0	9	10					A	47127100	G	A	47127100	3	1	94	1	0	0	0	0	1	0	0	0	12751	1087	38	1	785	1	PTGIR	19	47127100	Missense_Mutation	SNP	G	TCGA-EJ-7782-01A-11D-2114-08	212493	47127100	12001883	449	5268											
DHX34	9704	broad.mit.edu	37	chr19	47884519	47884519	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggcctgcatgcgcccctcaCgcccctggagcgcatcgccc	4	6	11	20	4	1	0	1	0	0	0	2	1	1	1	6	2	3	2	6	2	0	0	rs538434908		TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr19:47884519C>T	ENST00000328771.4	+	16	3585	c.3236C>T	c.(3235-3237)aCg>aTg	p.T1079M		NM_014681.5	NP_055496.2	Q14147	DHX34_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 34	1079					negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:2000623)|nuclear-transcribed mRNA catabolic process (GO:0000956)	membrane (GO:0016020)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(5)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		all cancers(93;7.16e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000489)|GBM - Glioblastoma multiforme(486;0.00413)|Epithelial(262;0.0132)		GCGCCCCTCACGCCCCTGGAG	0.672													C|||	1	0.000199681	0	0	5008	,	,		15108	0		0	False		,,,				2504	0.001					ENST00000328771.4																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(5)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(3235-3237)aCg>aTg		DEAH (Asp-Glu-Ala-His) box polypeptide 34							56	59	58					19																	47884519		2203	4300	6503	SO:0001583	missense	9704					intracellular	ATP binding|ATP-dependent helicase activity|RNA binding|zinc ion binding	g.chr19:47884519C>T	D50924	CCDS12700.1	19q13.3	2003-06-13	2003-06-13	2003-06-13	ENSG00000134815	ENSG00000134815		"DEAH-boxes"	16719	protein-coding gene	gene with protein product		615475	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 34"	DDX34		10708517, 8590280	Standard	NM_014681		Approved	KIAA0134	uc010xyn.2	Q14147	OTTHUMG00000149959	ENST00000328771.4:c.3236C>T	19.37:g.47884519C>T	ENSP00000331907:p.Thr1079Met						p.T1079M	NM_014681.5	NP_055496.2	Q14147	DHX34_HUMAN		all cancers(93;7.16e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000489)|GBM - Glioblastoma multiforme(486;0.00413)|Epithelial(262;0.0132)	16	3585	+		all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)	1079					B4DMY8	Missense_Mutation	SNP	ENST00000328771.4	37	c.3236C>T	CCDS12700.1	.	.	.	.	.	.	.	.	.	.	C	17.61	3.432007	0.62844	.	.	ENSG00000134815	ENST00000328771	T	0.03413	3.94	5.25	5.25	0.73442	.	0.000000	0.56097	D	0.000032	T	0.14830	0.0358	L	0.54323	1.7	0.58432	D	0.999991	D	0.89917	1.0	D	0.87578	0.998	T	0.00120	-1.2030	10	0.72032	D	0.01	-17.372	15.7441	0.77926	0.0:1.0:0.0:0.0	.	1079	Q14147	DHX34_HUMAN	M	1079	ENSP00000331907:T1079M	ENSP00000331907:T1079M	T	+	2	0	DHX34	52576350	1.000000	0.71417	0.594000	0.28785	0.145000	0.21501	6.775000	0.75018	2.446000	0.82766	0.561000	0.74099	ACG		0.672	DHX34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314313.3	NM_014681		7	42	0	0	0	1	0	7	42					T	47884519	C	T	47884519	3	4	94	1	0	0	0	0	1	0	0	0	4507	536	19	1	3294	1	DHX34	19	47884519	Missense_Mutation	SNP	C	TCGA-EJ-7782-01A-11D-2114-08	757419	47884519	11244464	450	5269											
LMTK3	114783	broad.mit.edu	37	chr19	49012151	49012151	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gaacttgcgttgctccagggGccccgcgctggctcggagct	4	8	15	14	4	0	0	0	0	0	0	2	2	1	1	3	4	4	5	3	4	1	2			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr19:49012151G>T	ENST00000600059.1	-	5	741	c.514C>A	c.(514-516)Ccc>Acc	p.P172T	LMTK3_ENST00000270238.3_Missense_Mutation_p.P201T			Q96Q04	LMTK3_HUMAN	lemur tyrosine kinase 3	172	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(9)|prostate(1)	16		all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000114)|all cancers(93;0.000141)|Epithelial(262;0.00854)|GBM - Glioblastoma multiforme(486;0.0231)		TGCTCCAGGGGCCCCGCGCTG	0.597																																						ENST00000600059.1																			0				breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(9)|prostate(1)	16						c.(514-516)Ccc>Acc		lemur tyrosine kinase 3							70	81	77					19																	49012151		2141	4262	6403	SO:0001583	missense	114783							g.chr19:49012151G>T	AB067470	CCDS46136.1	19q13.33	2014-06-12				ENSG00000142235			19295	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 101"						Standard	NM_001080434		Approved	KIAA1883, LMR3, TYKLM3, PPP1R101	uc002pjk.3	Q96Q04		ENST00000600059.1:c.514C>A	19.37:g.49012151G>T	ENSP00000472020:p.Pro172Thr					LMTK3_ENST00000270238.3_Missense_Mutation_p.P201T	p.P172T						OV - Ovarian serous cystadenocarcinoma(262;0.000114)|all cancers(93;0.000141)|Epithelial(262;0.00854)|GBM - Glioblastoma multiforme(486;0.0231)	5	741	-		all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113)						Q4G0U1	Missense_Mutation	SNP	ENST00000600059.1	37	c.514C>A		.	.	.	.	.	.	.	.	.	.	G	16.00	2.997372	0.54147	.	.	ENSG00000142235	ENST00000270238	D	0.82081	-1.57	4.01	2.94	0.34122	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	U	0.000008	T	0.80737	0.4680	N	0.20881	0.62	0.46149	D	0.998895	D	0.64830	0.994	P	0.58266	0.836	T	0.78097	-0.2337	10	0.33141	T	0.24	.	12.0344	0.53417	0.0:0.1766:0.8234:0.0	.	172	Q96Q04	LMTK3_HUMAN	T	201	ENSP00000270238:P201T	ENSP00000270238:P201T	P	-	1	0	LMTK3	53703963	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.473000	0.53122	0.956000	0.37904	0.561000	0.74099	CCC		0.597	LMTK3-002	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000466137.1	NM_052895		19	32	1	0	1.37522e-17	1	1.49468e-17	19	32					T	49012151	G	T	49012151	3	4	94	1	0	0	0	0	1	0	0	0	8860	1203	42	5	3912	5	LMTK3	19	49012151	Missense_Mutation	SNP	G	TCGA-EJ-7782-01A-11D-2114-08	1127632	49012151	10116832	451	5270											
SPHK2	56848	broad.mit.edu	37	chr19	49132872	49132872	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgtccgcagctgggctacGccgcggcccgtgccttccgc	2	7	14	18	6	0	0	0	0	0	0	2	0	2	0	5	2	3	4	5	2	1	2			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr19:49132872G>A	ENST00000245222.4	+	7	2173	c.1807G>A	c.(1807-1809)Gcc>Acc	p.A603T	SPHK2_ENST00000599029.1_Missense_Mutation_p.A567T|SPHK2_ENST00000599748.1_Missense_Mutation_p.A567T|SPHK2_ENST00000340932.3_Missense_Mutation_p.A565T|SPHK2_ENST00000443164.1_Missense_Mutation_p.A665T|SPHK2_ENST00000600537.1_Missense_Mutation_p.A544T|SPHK2_ENST00000598088.1_Missense_Mutation_p.A603T	NM_001204158.2|NM_001243876.1|NM_020126.4	NP_001191087.1|NP_001230805.1|NP_064511.2	Q9NRA0	SPHK2_HUMAN	sphingosine kinase 2	603					blood vessel development (GO:0001568)|brain development (GO:0007420)|cell proliferation (GO:0008283)|lipid phosphorylation (GO:0046834)|negative regulation of apoptotic process (GO:0043066)|positive regulation of cell proliferation (GO:0008284)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|small molecule metabolic process (GO:0044281)|sphinganine-1-phosphate biosynthetic process (GO:0006669)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|sphingosine metabolic process (GO:0006670)	cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	ATP binding (GO:0005524)|D-erythro-sphingosine kinase activity (GO:0017050)|diacylglycerol kinase activity (GO:0004143)|NAD+ kinase activity (GO:0003951)|Ras GTPase binding (GO:0017016)|sphinganine kinase activity (GO:0008481)			NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	19		all_lung(116;0.000125)|Lung NSC(112;0.000202)|all_epithelial(76;0.000283)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000102)|all cancers(93;0.000117)|GBM - Glioblastoma multiforme(486;0.00627)|Epithelial(262;0.0158)		GCTGGGCTACGCCGCGGCCCG	0.682																																						ENST00000443164.1																			0				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	19						c.(1993-1995)Gcc>Acc		sphingosine kinase 2							18	16	16					19																	49132872		2198	4294	6492	SO:0001583	missense	56848				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis|cell proliferation|sphinganine-1-phosphate biosynthetic process	cytosol|lysosomal membrane|membrane fraction	ATP binding|D-erythro-sphingosine kinase activity|diacylglycerol kinase activity|Ras GTPase binding|sphinganine kinase activity	g.chr19:49132872G>A	AF245447	CCDS12727.1, CCDS59404.1, CCDS59405.1, CCDS74414.1	19q13.33	2013-09-20			ENSG00000063176	ENSG00000063176			18859	protein-coding gene	gene with protein product		607092				10751414, 17895250	Standard	NM_020126		Approved		uc002pjs.3	Q9NRA0	OTTHUMG00000183318	ENST00000245222.4:c.1807G>A	19.37:g.49132872G>A	ENSP00000245222:p.Ala603Thr					SPHK2_ENST00000599748.1_Missense_Mutation_p.A567T|SPHK2_ENST00000599029.1_Missense_Mutation_p.A567T|SPHK2_ENST00000600537.1_Missense_Mutation_p.A544T|SPHK2_ENST00000340932.3_Missense_Mutation_p.A565T|SPHK2_ENST00000245222.4_Missense_Mutation_p.A603T|SPHK2_ENST00000598088.1_Missense_Mutation_p.A603T	p.A665T			Q9NRA0	SPHK2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000102)|all cancers(93;0.000117)|GBM - Glioblastoma multiforme(486;0.00627)|Epithelial(262;0.0158)	5	2698	+		all_lung(116;0.000125)|Lung NSC(112;0.000202)|all_epithelial(76;0.000283)|all_neural(266;0.0506)|Ovarian(192;0.113)	603					A0T4C8|B4DU87|Q9BRN1|Q9H0Q2|Q9NWU7	Missense_Mutation	SNP	ENST00000245222.4	37	c.1993G>A	CCDS12727.1	.	.	.	.	.	.	.	.	.	.	G	17.99	3.523383	0.64747	.	.	ENSG00000063176	ENST00000245222;ENST00000406269;ENST00000340932;ENST00000443164	T;T;T	0.14266	2.52;2.52;2.52	4.78	4.78	0.61160	.	0.202406	0.43110	D	0.000620	T	0.07324	0.0185	N	0.14661	0.345	0.31224	N	0.697141	D;P;D	0.57571	0.98;0.87;0.964	B;B;B	0.39217	0.294;0.226;0.175	T	0.04930	-1.0917	10	0.49607	T	0.09	-34.4714	9.1479	0.36944	0.0983:0.0:0.9017:0.0	.	544;665;603	B4DU87;A0T4C8;Q9NRA0	.;.;SPHK2_HUMAN	T	603;576;565;665	ENSP00000245222:A603T;ENSP00000341091:A565T;ENSP00000413369:A665T	ENSP00000245222:A603T	A	+	1	0	SPHK2	53824684	0.999000	0.42202	0.843000	0.33291	0.992000	0.81027	3.614000	0.54160	2.653000	0.90120	0.555000	0.69702	GCC		0.682	SPHK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466153.1			3	7	0	0	0	1	0	3	7					A	49132872	G	A	49132872	3	1	94	1	0	0	0	0	1	0	0	0	15046	1087	38	1	1829	1	SPHK2	19	49132872	Missense_Mutation	SNP	G	TCGA-EJ-7782-01A-11D-2114-08	120721	49132872	9996111	452	5271											
CGB5	93659	broad.mit.edu	37	chr19	49548414	49548414	+	Frame_Shift_Del	DEL	G	G	-																															gccgcagcaccactgactgcGggggtcccaaggaccacccc																										TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr19:49548414delG	ENST00000301408.6	+	3	687	c.361delG	c.(361-363)gggfs	p.G122fs	CGB1_ENST00000391869.3_Intron	NM_033043.1	NP_149032.1	P01233	CGHB_HUMAN	chorionic gonadotropin, beta polypeptide 5	122					apoptotic process (GO:0006915)|cell-cell signaling (GO:0007267)|cellular protein metabolic process (GO:0044267)|female gamete generation (GO:0007292)|peptide hormone processing (GO:0016486)|signal transduction (GO:0007165)	extracellular region (GO:0005576)	hormone activity (GO:0005179)			ovary(1)|pancreas(1)	2		all_epithelial(76;9.62e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		all cancers(93;0.000371)|OV - Ovarian serous cystadenocarcinoma(262;0.000503)|GBM - Glioblastoma multiforme(486;0.00518)|Epithelial(262;0.0427)		CACTGACTGCGGGGGTCCCAA	0.672																																						ENST00000301408.6																			0				ovary(1)|pancreas(1)	2						c.(361-363)ggfs		chorionic gonadotropin, beta polypeptide 5	Choriogonadotropin alfa(DB00097)						2	2	2					19																	49548414		552	1515	2067	SO:0001589	frameshift_variant	93659				apoptosis|cell-cell signaling|cellular nitrogen compound metabolic process|female gamete generation|hormone biosynthetic process|peptide hormone processing|signal transduction	extracellular region|soluble fraction	hormone activity	g.chr19:49548414delG	X00265	CCDS12752.1	19q13.32	2008-02-05				ENSG00000189052			16452	protein-coding gene	gene with protein product		608825				6194155	Standard	NM_033043		Approved	HCG	uc002ply.3	P01233		ENST00000301408.6:c.361delG	19.37:g.49548414delG	ENSP00000301408:p.Gly122fs					CGB1_ENST00000391869.3_Intron	p.G122fs	NM_033043.1	NP_149032.1	P01233	CGHB_HUMAN		all cancers(93;0.000371)|OV - Ovarian serous cystadenocarcinoma(262;0.000503)|GBM - Glioblastoma multiforme(486;0.00518)|Epithelial(262;0.0427)	3	687	+		all_epithelial(76;9.62e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)	122					A1A5E0|B9ZVP5|Q13991|Q14000|Q3KPI3|Q3SY41|Q8WTT5|Q8WXL1|Q8WXL2|Q8WXL3|Q8WXL4	Frame_Shift_Del	DEL	ENST00000301408.6	37	c.361delG	CCDS12752.1																																																																																				0.672	CGB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466251.1	NM_033043		9	16						9	16	---	---	---	---	-	49548414	G	-	49548414	7	5	94	1	0	1	0	1	0	0	0	0	3299	1116	39	0	371	0	CGB5	19	49548414	Frame_Shift_Del	DEL	G	TCGA-EJ-7782-01A-11D-2114-08	415542	49548414	9580569	453	5272											
TRPM4	54795	broad.mit.edu	37	chr19	49714069	49714069	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagggacaagcgggagagcgActccgagcgtctgaagcgca	11	4	16	10	5	1	2	0	1	1	1	2	6	2	3	1	2	4	1	1	2	3	1			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr19:49714069A>G	ENST00000252826.5	+	22	3557	c.3431A>G	c.(3430-3432)gAc>gGc	p.D1144G	TRPM4_ENST00000355712.5_Missense_Mutation_p.D790G|TRPM4_ENST00000427978.2_Missense_Mutation_p.D999G	NM_017636.3	NP_060106.2	Q8TD43	TRPM4_HUMAN	transient receptor potential cation channel, subfamily M, member 4	1144	Calmodulin-binding.				calcium ion transmembrane transport (GO:0070588)|cardiac conduction (GO:0061337)|dendritic cell chemotaxis (GO:0002407)|ion transmembrane transport (GO:0034220)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell proliferation (GO:0008284)|protein sumoylation (GO:0016925)|regulation of membrane potential (GO:0042391)|regulation of T cell cytokine production (GO:0002724)|transmembrane transport (GO:0055085)|vasoconstriction (GO:0042310)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium activated cation channel activity (GO:0005227)|calcium channel activity (GO:0005262)			breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(18)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	49		all_lung(116;8.54e-05)|Lung NSC(112;0.000139)|all_neural(266;0.0506)|Ovarian(192;0.15)		all cancers(93;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000222)|GBM - Glioblastoma multiforme(486;0.00339)|Epithelial(262;0.00751)		CGGGAGAGCGACTCCGAGCGT	0.612																																						ENST00000252826.5																			0				breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(18)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	49						c.(3430-3432)gAc>gGc		transient receptor potential cation channel, subfamily M, member 4							25	27	26					19																	49714069		2201	4300	6501	SO:0001583	missense	54795				dendritic cell chemotaxis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell proliferation|protein sumoylation|regulation of T cell cytokine production	endoplasmic reticulum|Golgi apparatus|integral to membrane|plasma membrane	ATP binding|calcium activated cation channel activity|calmodulin binding	g.chr19:49714069A>G	AK000048	CCDS33073.1, CCDS56098.1	19q13.3	2011-12-14				ENSG00000130529		"Voltage-gated ion channels / Transient receptor potential cation channels"	17993	protein-coding gene	gene with protein product		606936				11535825, 16382100	Standard	NM_017636		Approved	FLJ20041	uc002pmw.3	Q8TD43		ENST00000252826.5:c.3431A>G	19.37:g.49714069A>G	ENSP00000252826:p.Asp1144Gly					TRPM4_ENST00000427978.2_Missense_Mutation_p.D999G|TRPM4_ENST00000355712.5_Missense_Mutation_p.D790G	p.D1144G	NM_017636.3	NP_060106.2	Q8TD43	TRPM4_HUMAN		all cancers(93;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000222)|GBM - Glioblastoma multiforme(486;0.00339)|Epithelial(262;0.00751)	22	3557	+		all_lung(116;8.54e-05)|Lung NSC(112;0.000139)|all_neural(266;0.0506)|Ovarian(192;0.15)	1144			Calmodulin-binding.		A2RU25|Q7Z5D9|Q96L84|Q9NXV1	Missense_Mutation	SNP	ENST00000252826.5	37	c.3431A>G	CCDS33073.1	.	.	.	.	.	.	.	.	.	.	A	21.8	4.203933	0.79127	.	.	ENSG00000130529	ENST00000252826;ENST00000427978;ENST00000355712	T;T;T	0.58797	0.36;0.31;0.5	5.09	5.09	0.68999	.	0.106720	0.64402	D	0.000010	T	0.68016	0.2955	M	0.69823	2.125	0.52501	D	0.999956	D;P;P;D	0.64830	0.994;0.901;0.837;0.989	P;P;P;P	0.54706	0.759;0.634;0.634;0.68	T	0.69698	-0.5075	10	0.41790	T	0.15	-29.1724	14.1529	0.65398	1.0:0.0:0.0:0.0	.	790;970;999;1144	B4DIX5;Q8TD43-2;Q8TD43-3;Q8TD43	.;.;.;TRPM4_HUMAN	G	1144;999;790	ENSP00000252826:D1144G;ENSP00000407492:D999G;ENSP00000347944:D790G	ENSP00000252826:D1144G	D	+	2	0	TRPM4	54405881	1.000000	0.71417	0.999000	0.59377	0.991000	0.79684	6.199000	0.72112	2.047000	0.60756	0.459000	0.35465	GAC		0.612	TRPM4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465543.2	NM_017636		3	14	0	0	0	1	0	3	14					G	49714069	A	G	49714069	3	3	94	1	0	0	0	0	1	0	0	0	16585	275	10	4	3517	4	TRPM4	19	49714069	Missense_Mutation	SNP	A	TCGA-EJ-7782-01A-11D-2114-08	165655	49714069	9414914	454	5273											
AP2A1	160	broad.mit.edu	37	chr19	50302915	50302915	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gacgtcagcgtgcggcagcgGgcggctgacctcctctacgc	5	6	15	15	6	2	1	1	1	1	0	3	2	3	1	2	3	4	2	2	3	1	1			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr19:50302915G>T	ENST00000359032.5	+	10	1164	c.1164G>T	c.(1162-1164)cgG>cgT	p.R388R	AP2A1_ENST00000354293.5_Silent_p.R388R	NM_014203.2	NP_055018.2	O95782	AP2A1_HUMAN	adaptor-related protein complex 2, alpha 1 subunit	388					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon guidance (GO:0007411)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|Golgi to endosome transport (GO:0006895)|intracellular protein transport (GO:0006886)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of hyaluronan biosynthetic process (GO:1900126)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of defense response to virus by virus (GO:0050690)|synaptic transmission (GO:0007268)|viral process (GO:0016032)	AP-2 adaptor complex (GO:0030122)|apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|clathrin coat of trans-Golgi network vesicle (GO:0030130)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|membrane (GO:0016020)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|protein transporter activity (GO:0008565)			cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)	19		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.0023)|GBM - Glioblastoma multiforme(134;0.0157)		TGCGGCAGCGGGCGGCTGACC	0.652																																						ENST00000354293.5																			0				cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)	19						c.(1162-1164)cgG>cgT		adaptor-related protein complex 2, alpha 1 subunit							62	68	66					19																	50302915		2203	4300	6503	SO:0001819	synonymous_variant	160				axon guidance|endocytosis|epidermal growth factor receptor signaling pathway|Golgi to endosome transport|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|viral reproduction	AP-2 adaptor complex|clathrin coat of trans-Golgi network vesicle|cytosol	protein binding|protein transporter activity	g.chr19:50302915G>T	AA993745	CCDS46148.1, CCDS46149.1	19q13.3	2008-05-23				ENSG00000196961			561	protein-coding gene	gene with protein product		601026		CLAPA1, ADTAA		2564002	Standard	NM_014203		Approved		uc002ppn.3	O95782		ENST00000359032.5:c.1164G>T	19.37:g.50302915G>T						AP2A1_ENST00000359032.5_Silent_p.R388R	p.R388R	NM_130787.2	NP_570603.2	O95782	AP2A1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0023)|GBM - Glioblastoma multiforme(134;0.0157)	10	1330	+		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)	388					Q96CI7|Q96PP6|Q96PP7|Q9H070	Silent	SNP	ENST00000359032.5	37	c.1164G>T	CCDS46148.1																																																																																				0.652	AP2A1-008	NOVEL	non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465809.1			5	56	1	0	0.014758	1	0.0148448	5	56					T	50302915	G	T	50302915	2	4	94	1	0	0	0	0	0	0	0	1	739	1219	43	5		5	AP2A1	19	50302915	Silent	SNP	G	TCGA-EJ-7782-01A-11D-2114-08	588846	50302915	8826068	455	5274											
C19orf63	284361	broad.mit.edu	37	chr19	50985132	50985132	+	Intron	DEL	G	G	-																															ccccagtggcacatcatcctGgggggggccgtgttgctcac																										TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr19:50985132delG	ENST00000334976.6	+	7	724				EMC10_ENST00000598585.1_Intron|EMC10_ENST00000376918.3_Frame_Shift_Del_p.L231fs|CTD-2545M3.2_ENST00000598194.1_RNA	NM_206538.2	NP_996261.1	Q5UCC4	EMC10_HUMAN	ER membrane protein complex subunit 10							ER membrane protein complex (GO:0072546)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)		p.A234fs*56(1)									ACATCATCCTGGGGGGGGCCG	0.736																																						ENST00000376918.3																			1	Insertion - Frameshift(1)	p.A234fs*56(1)	large_intestine(1)								c.(691-693)ctfs		ER membrane protein complex subunit 10			,	77,52,3703		3,0,71,2,48,1792					,	3.7	1			8	210,155,7453		5,1,199,6,142,3556	no	intron,codingComplex	C19orf63	NM_206538.2,NM_175063.4	,	8,1,270,8,190,5348	A1A1,A1A2,A1R,A2A2,A2R,RR		4.6687,3.3664,4.2403	,	,		287,207,11156				SO:0001627	intron_variant	284361							g.chr19:50985132delG	BC062607	CCDS12796.1, CCDS42594.1	19q13.33	2012-05-30	2012-05-30	2012-05-30	ENSG00000161671	ENSG00000161671			27609	protein-coding gene	gene with protein product	"hematopoietic signal peptide-containing secreted 1", "hematopoietic signal peptide-containing membrane domain-containing 1"	614545	"chromosome 19 open reading frame 63"	C19orf63		12975309, 22119785	Standard	NM_175063		Approved	INM02, HSS1, HSM1	uc002psl.3	Q5UCC4		ENST00000334976.6:c.679-274G>-	19.37:g.50985132delG						EMC10_ENST00000598585.1_Intron|EMC10_ENST00000334976.6_Intron|CTD-2545M3.2_ENST00000598194.1_RNA	p.L231fs	NM_175063.4	NP_778233.4					7	739	+								Q5UCC6|Q69YT5|Q6UWP3|Q86YL4|Q8N541	Frame_Shift_Del	DEL	ENST00000334976.6	37	c.693delG	CCDS12796.1																																																																																				0.736	EMC10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000464760.2	NM_175063		7	5						7	5	---	---	---	---	-	50985132	G	-	50985132	6	5	94	0	1	1	0	1	0	0	0	0	1945	1335	47	0		0	C19orf63	19	50985132	Intron	DEL	G	TCGA-EJ-7782-01A-11D-2114-08	682217	50985132	8143851	456	5275											
ZNF616	90317	broad.mit.edu	37	chr19	52618188	52618188	+	Frame_Shift_Del	DEL	T	T	-																															cactcattacatttataaggTtttttgccagaatgaattct																										TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr19:52618188delT	ENST00000600228.1	-	4	2490	c.2229delA	c.(2227-2229)aaafs	p.K743fs	ZNF616_ENST00000330123.5_3'UTR	NM_178523.3	NP_848618.2	Q08AN1	ZN616_HUMAN	zinc finger protein 616	743					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.P744fs*3(1)		breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48				GBM - Glioblastoma multiforme(134;0.00392)|OV - Ovarian serous cystadenocarcinoma(262;0.0189)		ATTTATAAGGTTTTTTGCCAG	0.393																																						ENST00000600228.1																			1	Insertion - Frameshift(1)	p.P744fs*3(1)	large_intestine(1)	breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						c.(2227-2229)aafs		zinc finger protein 616							121	123	122					19																	52618188		2203	4300	6503	SO:0001589	frameshift_variant	90317				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52618188delT	AK092266	CCDS33090.1	19q13.41	2013-01-08				ENSG00000204611		"Zinc fingers, C2H2-type", "-"	28062	protein-coding gene	gene with protein product							Standard	NM_178523		Approved	MGC45556	uc002pym.3	Q08AN1		ENST00000600228.1:c.2229delA	19.37:g.52618188delT	ENSP00000471000:p.Lys743fs					ZNF616_ENST00000330123.5_3'UTR	p.K743fs	NM_178523.3	NP_848618.2	Q08AN1	ZN616_HUMAN		GBM - Glioblastoma multiforme(134;0.00392)|OV - Ovarian serous cystadenocarcinoma(262;0.0189)	4	2490	-			743					B3KRV1|Q0P658|Q658V7	Frame_Shift_Del	DEL	ENST00000600228.1	37	c.2229delA	CCDS33090.1																																																																																				0.393	ZNF616-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462451.1	XM_030892		11	85						11	85	---	---	---	---	-	52618188	T	-	52618188	7	5	94	1	0	1	0	1	0	0	0	0	18038	1722	60	0	120	0	ZNF616	19	52618188	Frame_Shift_Del	DEL	T	TCGA-EJ-7782-01A-11D-2114-08	1633056	52618188	6510795	457	5276											
ZNF71	58491	broad.mit.edu	37	chr19	57133248	57133248	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cggcaaggccttcagccagcGcatgaacctcactgtgcacc	9	6	10	16	2	2	1	2	1	0	0	2	1	2	1	4	2	4	3	4	2	2	1			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr19:57133248G>A	ENST00000328070.6	+	3	827	c.593G>A	c.(592-594)cGc>cAc	p.R198H		NM_021216.4	NP_067039.1	Q9NQZ8	ZNF71_HUMAN	zinc finger protein 71	198					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	26				GBM - Glioblastoma multiforme(193;0.062)|Lung(386;0.0681)|LUSC - Lung squamous cell carcinoma(496;0.18)		TTCAGCCAGCGCATGAACCTC	0.637																																						ENST00000328070.6																			0				endometrium(3)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	26						c.(592-594)cGc>cAc		zinc finger protein 71							49	44	46					19																	57133248		2203	4300	6503	SO:0001583	missense	58491					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:57133248G>A	X60074	CCDS12947.1	19q13.4	2013-01-08	2006-05-12			ENSG00000197951		"Zinc fingers, C2H2-type"	13141	protein-coding gene	gene with protein product		194545	"zinc finger protein 71 (Cos26)"			1639391	Standard	NM_021216		Approved	Cos26, EZFIT	uc002qnm.4	Q9NQZ8		ENST00000328070.6:c.593G>A	19.37:g.57133248G>A	ENSP00000328245:p.Arg198His						p.R198H	NM_021216.4	NP_067039.1	Q9NQZ8	ZNF71_HUMAN		GBM - Glioblastoma multiforme(193;0.062)|Lung(386;0.0681)|LUSC - Lung squamous cell carcinoma(496;0.18)	3	827	+			198					Q15919|Q9UC09|Q9UQD3	Missense_Mutation	SNP	ENST00000328070.6	37	c.593G>A	CCDS12947.1	.	.	.	.	.	.	.	.	.	.	G	10.96	1.499598	0.26861	.	.	ENSG00000197951	ENST00000328070	T	0.08370	3.1	3.47	3.47	0.39725	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.04770	0.0129	N	0.13168	0.305	0.09310	N	1	D	0.60575	0.988	B	0.40565	0.333	T	0.35943	-0.9768	9	0.30854	T	0.27	.	8.0101	0.30349	0.1159:0.0:0.8841:0.0	.	198	Q9NQZ8	ZNF71_HUMAN	H	198	ENSP00000328245:R198H	ENSP00000328245:R198H	R	+	2	0	ZNF71	61825060	0.000000	0.05858	1.000000	0.80357	0.982000	0.71751	0.031000	0.13710	1.777000	0.52277	0.561000	0.74099	CGC		0.637	ZNF71-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459798.2	NM_021216		19	41	0	0	0	1	0	19	41					A	57133248	G	A	57133248	3	1	94	1	0	0	0	0	1	0	0	0	18111	1087	38	1	595	1	ZNF71	19	57133248	Missense_Mutation	SNP	G	TCGA-EJ-7782-01A-11D-2114-08	4515060	57133248	1995735	458	5277											
ZNF772	400720	broad.mit.edu	37	chr19	57985397	57985397	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	attgtgaggggcatggtgctCgaaaatgcttgagctggcta	9	11	15	6	1	0	2	0	2	0	0	1	3	0	2	0	4	3	5	0	4	3	3	rs184861513		TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr19:57985397C>T	ENST00000343280.4	-	5	975	c.715G>A	c.(715-717)Gag>Aag	p.E239K	AC004076.9_ENST00000596831.1_Intron|AC004076.9_ENST00000415705.3_Intron|ZNF772_ENST00000356584.3_Missense_Mutation_p.E198K|ZNF772_ENST00000427512.2_Missense_Mutation_p.E127K|ZNF772_ENST00000601768.1_Intron|ZNF772_ENST00000600175.1_Intron|ZNF772_ENST00000425074.3_3'UTR	NM_001024596.2	NP_001019767.1	Q68DY9	ZN772_HUMAN	zinc finger protein 772	239					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(1)|large_intestine(4)|lung(3)	9		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)|Lung(386;0.174)		GCATGGTGCTCGAAAATGCTT	0.498													G|||	1	0.000199681	0	0	5008	,	,		20599	0.001		0	False		,,,				2504	0				Melanoma(5;289 436 14293 15924 30817)	ENST00000343280.4																			0				breast(1)|endometrium(1)|large_intestine(4)|lung(3)	9						c.(715-717)Gag>Aag		zinc finger protein 772							75	67	70					19																	57985397		2203	4300	6503	SO:0001583	missense	400720				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57985397C>T	BX647068	CCDS33133.1, CCDS46210.1	19q13.43	2013-01-08				ENSG00000197128		"Zinc fingers, C2H2-type", "-"	33106	protein-coding gene	gene with protein product							Standard	NM_001024596		Approved	DKFZp686I1569	uc002qot.3	Q68DY9		ENST00000343280.4:c.715G>A	19.37:g.57985397C>T	ENSP00000341165:p.Glu239Lys					ZNF772_ENST00000601768.1_Intron|ZNF772_ENST00000600175.1_Intron|AC004076.9_ENST00000596831.1_Intron|ZNF772_ENST00000425074.3_3'UTR|ZNF772_ENST00000356584.3_Missense_Mutation_p.E198K|ZNF772_ENST00000427512.2_Missense_Mutation_p.E127K|AC004076.9_ENST00000415705.3_Intron	p.E239K	NM_001024596.2	NP_001019767.1	Q68DY9	ZN772_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)|Lung(386;0.174)	5	975	-		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)	239					A6NJK9|B4DH56|B4DYS0	Missense_Mutation	SNP	ENST00000343280.4	37	c.715G>A	CCDS33133.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	32	5.121854	0.94429	.	.	ENSG00000197128	ENST00000343280;ENST00000427512;ENST00000319969;ENST00000356584;ENST00000291809	T;T;T	0.14516	3.42;2.5;3.43	4.15	1.92	0.25849	.	.	.	.	.	T	0.05686	0.0149	N	0.10945	0.07	0.09310	N	0.999997	B;B;B	0.28258	0.001;0.056;0.205	B;B;B	0.19391	0.001;0.025;0.016	T	0.40683	-0.9550	9	0.12103	T	0.63	.	6.8937	0.24245	0.0:0.3675:0.4435:0.189	.	127;198;239	Q68DY9-2;A6NJK9;Q68DY9	.;.;ZN772_HUMAN	K	239;127;185;198;164	ENSP00000341165:E239K;ENSP00000395967:E127K;ENSP00000348992:E198K	ENSP00000291809:E164K	E	-	1	0	ZNF772	62677209	0.000000	0.05858	0.662000	0.29724	0.844000	0.47949	-0.613000	0.05610	0.991000	0.38814	-0.322000	0.08575	GAG		0.498	ZNF772-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397447.1	NM_001024596		4	47	0	0	0	1	0	4	47					T	57985397	C	T	57985397	3	4	94	1	0	0	0	0	1	0	0	0	18142	893	31	2	758	2	ZNF772	19	57985397	Missense_Mutation	SNP	C	TCGA-EJ-7782-01A-11D-2114-08	852149	57985397	1143586	459	5278											
NSFL1C	55968	broad.mit.edu	37	chr20	1445045	1445045	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acaatgtcttcatcccctccGtcctcataaaagctcgctag	10	11	5	15	2	3	0	2	0	1	0	7	0	6	0	4	0	1	2	4	0	4	3	rs191322139	byFrequency	TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr20:1445045G>A	ENST00000216879.4	-	2	999	c.132C>T	c.(130-132)gaC>gaT	p.D44D	NSFL1C_ENST00000381658.4_Intron|NSFL1C_ENST00000353088.2_Silent_p.D44D|NSFL1C_ENST00000350991.4_Silent_p.D44D|NSFL1C_ENST00000476071.1_Silent_p.D44D	NM_016143.4	NP_057227.2	Q9UNZ2	NSF1C_HUMAN	NSFL1 (p97) cofactor (p47)	44						chromosome (GO:0005694)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)			breast(1)|large_intestine(5)|lung(6)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	16						CATCCCCTCCGTCCTCATAAA	0.522													G|||	2	0.000399361	8e-04	0	5008	,	,		21490	0.001		0	False		,,,				2504	0					ENST00000216879.4																			0				breast(1)|large_intestine(5)|lung(6)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	16						c.(130-132)gaC>gaT		NSFL1 (p97) cofactor (p47)							157	142	147					20																	1445045		2203	4300	6503	SO:0001819	synonymous_variant	55968					chromosome|Golgi stack|nucleus	lipid binding|protein binding	g.chr20:1445045G>A	AF112211	CCDS13015.1, CCDS13016.1, CCDS56175.1	20p13	2011-06-28			ENSG00000088833	ENSG00000088833		"UBX domain containing"	15912	protein-coding gene	gene with protein product	"SHP1 homolog (S. cerevisiae)", "UBX domain protein 2C"	606610				11042152	Standard	NM_016143		Approved	dJ776F14.1, p47, UBXD10, UBX1, UBXN2C	uc002wfc.3	Q9UNZ2	OTTHUMG00000031665	ENST00000216879.4:c.132C>T	20.37:g.1445045G>A						NSFL1C_ENST00000381658.4_Intron|NSFL1C_ENST00000353088.2_Silent_p.D44D|RP4-776F14.3_ENST00000553571.1_RNA|NSFL1C_ENST00000350991.4_Silent_p.D44D|NSFL1C_ENST00000476071.1_Silent_p.D44D	p.D44D	NM_016143.4	NP_057227.2	Q9UNZ2	NSF1C_HUMAN			2	999	-			44					A2A2L1|B2RD74|Q5JXA4|Q5JXA5|Q7Z533|Q9H102|Q9NVL9|Q9UI06	Silent	SNP	ENST00000216879.4	37	c.132C>T	CCDS13015.1																																																																																				0.522	NSFL1C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077525.2	NM_016143		28	73	0	0	0	1	0	28	73					A	1445045	G	A	1445045	2	1	94	1	0	0	0	0	0	0	0	1	10672	1136	40	1		1	NSFL1C	20	1445045	Silent	SNP	G	TCGA-EJ-7782-01A-11D-2114-08		1445045	61580475	460	5279											
ADRA1D	146	broad.mit.edu	37	chr20	4202253	4202253	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcggccacctcgtgtgggaCgcctagggacacagcctcca	7	6	12	16	3	0	0	0	0	0	0	3	2	1	2	5	3	1	0	5	3	1	1			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr20:4202253C>T	ENST00000379453.4	-	2	1752	c.1636G>A	c.(1636-1638)Gtc>Atc	p.V546I		NM_000678.3	NP_000669.1	P25100	ADA1D_HUMAN	adrenoceptor alpha 1D	546				KPPSAFREWRLLGPFRRPTTQLRAKVSSLSHKIRAGGAQRA EAACAQRSEVEAVSLGVPHEVAEGATCQAYELADYSNLRET DI -> SHPAPSASGGCWGRSGDPRPSCAPKSPACRTRSPP GARSAQRQRAPSAQRWRLCP (in Ref. 1). {ECO:0000305}.	adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|adrenergic receptor signaling pathway (GO:0071875)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|DNA metabolic process (GO:0006259)|G-protein coupled receptor signaling pathway (GO:0007186)|multicellular organismal development (GO:0007275)|negative regulation of the force of heart contraction involved in baroreceptor response to increased systemic arterial blood pressure (GO:0001986)|norepinephrine-epinephrine vasoconstriction involved in regulation of systemic arterial blood pressure (GO:0001994)|positive regulation of cell proliferation (GO:0008284)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	alpha1-adrenergic receptor activity (GO:0004937)			endometrium(1)|large_intestine(2)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	14					Alfuzosin(DB00346)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Amphetamine(DB00182)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Clonidine(DB00575)|Dapiprazole(DB00298)|Desipramine(DB01151)|Doxazosin(DB00590)|Doxepin(DB01142)|Dronedarone(DB04855)|Droxidopa(DB06262)|Epinephrine(DB00668)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Imipramine(DB00458)|Labetalol(DB00598)|Maprotiline(DB00934)|Mephentermine(DB01365)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Mianserin(DB06148)|Midodrine(DB00211)|Mirtazapine(DB00370)|Nicardipine(DB00622)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Oxymetazoline(DB00935)|Pergolide(DB01186)|Phenoxybenzamine(DB00925)|Phenylephrine(DB00388)|Prazosin(DB00457)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Sertindole(DB06144)|Silodosin(DB06207)|Tamsulosin(DB00706)|Terazosin(DB01162)|Xylometazoline(DB06694)	TCGTGTGGGACGCCTAGGGAC	0.667																																						ENST00000379453.4																			0				endometrium(1)|large_intestine(2)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	14						c.(1636-1638)Gtc>Atc		adrenoceptor alpha 1D	Alfuzosin(DB00346)|Bethanidine(DB00217)|Dapiprazole(DB00298)|Debrisoquin(DB04840)|Doxazosin(DB00590)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Methotrimeprazine(DB01403)|Norepinephrine(DB00368)|Promazine(DB00420)|Propericiazine(DB01608)|Propiomazine(DB00777)|Sertindole(DB06144)|Tamsulosin(DB00706)|Terazosin(DB01162)						25	28	27					20																	4202253		2203	4298	6501	SO:0001583	missense	146				cell proliferation|cell-cell signaling|DNA metabolic process|G-protein signaling, coupled to cAMP nucleotide second messenger|multicellular organismal development|positive regulation of cell proliferation	integral to plasma membrane	alpha1-adrenergic receptor activity	g.chr20:4202253C>T	U03864	CCDS13079.1	20p13	2012-08-08	2012-05-09		ENSG00000171873	ENSG00000171873		"GPCR / Class A : Adrenoceptors : alpha"	280	protein-coding gene	gene with protein product		104219	"adrenergic, alpha-1D-, receptor"			8039425	Standard	NM_000678		Approved	ADRA1R, ADRA1A, ADRA1	uc002wkr.2	P25100	OTTHUMG00000031779	ENST00000379453.4:c.1636G>A	20.37:g.4202253C>T	ENSP00000368766:p.Val546Ile						p.V546I	NM_000678.3	NP_000669.1	P25100	ADA1D_HUMAN			2	1752	-			546	KPPSAFREWRLLGPFRRPTTQLRAKVSSLSHKIRAGGAQRA EAACAQRSEVEAVSLGVPHEVAEGATCQAYELADYSNLRET DI -> SHPAPSASGGCWGRSGDPRPSCAPKSPACRTRSPP GARSAQRQRAPSAQRWRLCP (in Ref. 1).				Q9NPY0	Missense_Mutation	SNP	ENST00000379453.4	37	c.1636G>A	CCDS13079.1	.	.	.	.	.	.	.	.	.	.	C	12.87	2.066428	0.36470	.	.	ENSG00000171873	ENST00000379453	T	0.60299	0.2	3.48	3.48	0.39840	.	154.089000	0.00166	U	0.000000	T	0.48502	0.1503	L	0.31207	0.915	0.28313	N	0.922596	B	0.31705	0.336	B	0.26864	0.074	T	0.38112	-0.9676	10	0.20519	T	0.43	.	12.8115	0.57641	0.0:1.0:0.0:0.0	.	546	P25100	ADA1D_HUMAN	I	546	ENSP00000368766:V546I	ENSP00000368766:V546I	V	-	1	0	ADRA1D	4150253	0.765000	0.28485	0.029000	0.17559	0.631000	0.37964	1.177000	0.31969	1.893000	0.54813	0.305000	0.20034	GTC		0.667	ADRA1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077812.2	NM_000678		3	23	0	0	0	1	0	3	23					T	4202253	C	T	4202253	3	4	94	1	0	0	0	0	1	0	0	0	336	536	19	1	86	1	ADRA1D	20	4202253	Missense_Mutation	SNP	C	TCGA-EJ-7782-01A-11D-2114-08	2757208	4202253	58823267	461	5280											
KIF16B	55614	broad.mit.edu	37	chr20	16359674	16359674	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tctctggactccaaaatctcCttttcctttttcctcacttt	6	19	2	14	0	3	0	1	0	2	0	8	1	6	1	4	1	0	0	4	1	2	5			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr20:16359674C>A	ENST00000354981.2	-	19	3130	c.2973G>T	c.(2971-2973)aaG>aaT	p.K991N	KIF16B_ENST00000408042.1_Missense_Mutation_p.K991N|KIF16B_ENST00000378003.2_Missense_Mutation_p.K217N|KIF16B_ENST00000355755.3_Missense_Mutation_p.K991N	NM_001199865.1|NM_024704.4	NP_001186794.1|NP_078980.3	Q96L93	KI16B_HUMAN	kinesin family member 16B	991	Glu-rich.				ATP catabolic process (GO:0006200)|early endosome to late endosome transport (GO:0045022)|endoderm development (GO:0007492)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|formation of primary germ layer (GO:0001704)|Golgi to endosome transport (GO:0006895)|microtubule-based movement (GO:0007018)|receptor catabolic process (GO:0032801)|regulation of receptor recycling (GO:0001919)	early endosome (GO:0005769)|endosome (GO:0005768)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|plus-end-directed microtubule motor activity (GO:0008574)			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2)	74						CCAAAATCTCCTTTTCCTTTT	0.547																																						ENST00000354981.2																			0				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2)	74						c.(2971-2973)aaG>aaT		kinesin family member 16B							132	134	133					20																	16359674		2203	4300	6503	SO:0001583	missense	55614				cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|Golgi to endosome transport|microtubule-based movement|receptor catabolic process|regulation of receptor recycling	early endosome membrane|microtubule	ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity	g.chr20:16359674C>A	AK000142	CCDS13122.1, CCDS56178.1	20p11.23	2008-03-03	2008-03-03	2008-03-03	ENSG00000089177	ENSG00000089177		"Kinesins"	15869	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 23"	C20orf23		16084724, 16782399	Standard	NM_024704		Approved	FLJ20135, dJ971B4.1, SNX23	uc010gci.2	Q96L93	OTTHUMG00000031927	ENST00000354981.2:c.2973G>T	20.37:g.16359674C>A	ENSP00000347076:p.Lys991Asn					KIF16B_ENST00000355755.3_Missense_Mutation_p.K991N|KIF16B_ENST00000378003.2_Missense_Mutation_p.K217N|KIF16B_ENST00000408042.1_Missense_Mutation_p.K991N	p.K991N	NM_001199865.1|NM_024704.4	NP_001186794.1|NP_078980.3	Q96L93	KI16B_HUMAN			19	3130	-			991			Glu-rich.		A6NKJ9|A7E2A8|B1AKG3|B1AKT7|C9JDN5|C9JI52|C9JSM8|C9JWJ7|Q2TBF5|Q5HYC0|Q5HYK1|Q5JWW3|Q5TFK5|Q86VL9|Q86YS5|Q8IYU0|Q9BQJ8|Q9BQM0|Q9BQM1|Q9BQM5|Q9H5U0|Q9HCI2|Q9NXN9	Missense_Mutation	SNP	ENST00000354981.2	37	c.2973G>T	CCDS13122.1	.	.	.	.	.	.	.	.	.	.	C	19.34	3.808132	0.70797	.	.	ENSG00000089177	ENST00000354981;ENST00000355755;ENST00000377997;ENST00000378003;ENST00000408042	T;T;T;T	0.77489	-1.02;-1.02;1.94;-1.1	5.52	0.861	0.19048	.	0.047866	0.85682	D	0.000000	T	0.81513	0.4838	L	0.59436	1.845	0.44061	D	0.996801	D;D;D;D	0.89917	1.0;1.0;0.999;0.999	D;D;D;D	0.87578	0.997;0.998;0.982;0.937	T	0.76822	-0.2817	10	0.38643	T	0.18	.	6.7644	0.23558	0.0:0.3983:0.0:0.6017	.	991;991;991;991	Q96L93-4;Q96L93-2;Q96L93-6;Q96L93	.;.;.;KI16B_HUMAN	N	991;991;835;217;991	ENSP00000347076:K991N;ENSP00000347995:K991N;ENSP00000367242:K217N;ENSP00000384164:K991N	ENSP00000347076:K991N	K	-	3	2	KIF16B	16307674	1.000000	0.71417	0.999000	0.59377	0.939000	0.58152	0.941000	0.29005	0.388000	0.25054	0.655000	0.94253	AAG		0.547	KIF16B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078104.2	NM_017683		31	78	1	0	1.75199e-13	1	1.88027e-13	31	78					A	16359674	C	A	16359674	3	1	94	1	0	0	0	0	1	0	0	0	8278	680	24	5	1012	5	KIF16B	20	16359674	Missense_Mutation	SNP	C	TCGA-EJ-7782-01A-11D-2114-08	12157421	16359674	46665846	462	5281											
OVOL2	58495	broad.mit.edu	37	chr20	18005394	18005394	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tttttgagaaacgagctgccCggatgggcactgttcacgtg	8	11	13	9	3	1	1	1	1	0	1	1	4	1	2	1	2	3	3	1	2	1	3	rs376394167		TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr20:18005394C>T	ENST00000278780.6	-	4	956	c.714G>A	c.(712-714)ccG>ccA	p.P238P	OVOL2_ENST00000483661.1_5'UTR	NM_021220.2	NP_067043.2	Q9BRP0	OVOL2_HUMAN	ovo-like zinc finger 2	238					angiogenesis (GO:0001525)|dorsal/ventral pattern formation (GO:0009953)|embryonic digestive tract morphogenesis (GO:0048557)|endocardium formation (GO:0060214)|heart looping (GO:0001947)|heart trabecula formation (GO:0060347)|labyrinthine layer blood vessel development (GO:0060716)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of keratinocyte differentiation (GO:0045617)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of transcription by competitive promoter binding (GO:0010944)|negative regulation of transcription, DNA-templated (GO:0045892)|neural crest cell migration (GO:0001755)|neural fold formation (GO:0001842)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell cycle (GO:0051726)|regulation of keratinocyte proliferation (GO:0010837)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|transcription regulatory region DNA binding (GO:0044212)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(3)	6						ACGAGCTGCCCGGATGGGCAC	0.582																																						ENST00000278780.6																			0				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(3)	6						c.(712-714)ccG>ccA		ovo-like zinc finger 2		C		0,4406		0,0,2203	90	82	85		714	-5.9	0.9	20		85	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	OVOL2	NM_021220.2		0,2,6501	TT,TC,CC		0.0233,0.0,0.0154		238/276	18005394	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	58495				negative regulation of keratinocyte differentiation|negative regulation of Notch signaling pathway|negative regulation of transcription by competitive promoter binding|regulation of cell cycle|regulation of keratinocyte proliferation|transcription, DNA-dependent	nucleus	DNA binding|transcription regulatory region DNA binding|zinc ion binding	g.chr20:18005394C>T	AK022284	CCDS13132.1	20p11.23	2013-10-17	2013-10-17	2005-05-31	ENSG00000125850	ENSG00000125850		"Zinc fingers, C2H2-type"	15804	protein-coding gene	gene with protein product			"zinc finger protein 339", "ovo-like 2 (Drosophila)"	ZNF339			Standard	NM_021220		Approved	bA504H3.3, HOVO2	uc002wqi.1	Q9BRP0	OTTHUMG00000031960	ENST00000278780.6:c.714G>A	20.37:g.18005394C>T						OVOL2_ENST00000483661.1_5'UTR	p.P238P	NM_021220.2	NP_067043.2	Q9BRP0	OVOL2_HUMAN			4	956	-			238					Q5T8B4|Q9BX22|Q9HA54|Q9Y4M0	Silent	SNP	ENST00000278780.6	37	c.714G>A	CCDS13132.1																																																																																				0.582	OVOL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078148.5	NM_021220		11	24	0	0	0	1	0	11	24					T	18005394	C	T	18005394	2	4	94	1	0	0	0	0	0	0	0	1	11327	639	23	2		2	OVOL2	20	18005394	Silent	SNP	C	TCGA-EJ-7782-01A-11D-2114-08	1645720	18005394	45020126	463	5282											
NANP	140838	broad.mit.edu	37	chr20	25596622	25596622	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gagcaggtaactctagcacaGaagaaaccatgtaatgcgga	16	6	11	8	1	1	2	0	0	1	2	1	4	1	3	1	2	5	4	1	2	5	3			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr20:25596622G>A	ENST00000304788.3	-	2	912	c.686C>T	c.(685-687)tCt>tTt	p.S229F		NM_152667.2	NP_689880.1	Q8TBE9	NANP_HUMAN	N-acetylneuraminic acid phosphatase	229					carbohydrate metabolic process (GO:0005975)|dephosphorylation (GO:0016311)|N-acetylglucosamine biosynthetic process (GO:0006045)|N-acetylneuraminate biosynthetic process (GO:0046380)		N-acylneuraminate-9-phosphatase activity (GO:0050124)			endometrium(2)|lung(2)|prostate(1)	5						CTCTAGCACAGAAGAAACCAT	0.408																																						ENST00000304788.3																			0				endometrium(2)|lung(2)|prostate(1)	5						c.(685-687)tCt>tTt		N-acetylneuraminic acid phosphatase							106	97	100					20																	25596622		2203	4300	6503	SO:0001583	missense	140838				N-acetylneuraminate biosynthetic process		N-acylneuraminate-9-phosphatase activity|phosphoglycolate phosphatase activity	g.chr20:25596622G>A	AL031673	CCDS13173.1	20p11.1	2006-10-24	2006-01-24	2006-01-24	ENSG00000170191	ENSG00000170191			16140	protein-coding gene	gene with protein product		610763	"chromosome 20 open reading frame 147", "haloacid dehalogenase-like hydrolase domain containing 4"	C20orf147, HDHD4		16237198	Standard	NM_152667		Approved	dJ694B14.3, MGC26833	uc002wuy.3	Q8TBE9	OTTHUMG00000032132	ENST00000304788.3:c.686C>T	20.37:g.25596622G>A	ENSP00000302441:p.Ser229Phe						p.S229F	NM_152667.2	NP_689880.1	Q8TBE9	NANP_HUMAN			2	912	-			229					B3KP12|Q5JYN8|Q8TE97|Q9Y3N0	Missense_Mutation	SNP	ENST00000304788.3	37	c.686C>T	CCDS13173.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.190721	0.78789	.	.	ENSG00000170191	ENST00000304788	T	0.52983	0.64	5.34	5.34	0.76211	HAD-like domain (2);	0.160556	0.56097	D	0.000026	T	0.59702	0.2213	L	0.36672	1.1	0.51012	D	0.999907	D	0.89917	1.0	D	0.71414	0.973	T	0.62590	-0.6822	10	0.87932	D	0	-18.3111	16.5938	0.84789	0.0:0.0:1.0:0.0	.	229	Q8TBE9	NANP_HUMAN	F	229	ENSP00000302441:S229F	ENSP00000302441:S229F	S	-	2	0	NANP	25544622	1.000000	0.71417	0.999000	0.59377	0.986000	0.74619	6.687000	0.74552	2.511000	0.84671	0.485000	0.47835	TCT		0.408	NANP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078457.2	NM_152667		14	63	0	0	0	1	0	14	63					A	25596622	G	A	25596622	3	1	94	1	0	0	0	0	1	0	0	0	10154	942	33	3	64	3	NANP	20	25596622	Missense_Mutation	SNP	G	TCGA-EJ-7782-01A-11D-2114-08	7591228	25596622	37428898	464	5283											
CSE1L	1434	broad.mit.edu	37	chr20	47706243	47706243	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttcaagcattcttagaacGcggttcaaacacaatagcaa	15	10	6	10	2	4	1	2	0	2	1	4	1	4	1	0	1	4	3	0	1	7	5	rs376962564		TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr20:47706243G>A	ENST00000262982.2	+	19	2264	c.2141G>A	c.(2140-2142)cGc>cAc	p.R714H	CSE1L_ENST00000396192.3_Missense_Mutation_p.R658H|CSE1L_ENST00000542325.1_Missense_Mutation_p.R497H	NM_001256135.1|NM_001316.3	NP_001243064.1|NP_001307.2	P55060	XPO2_HUMAN	CSE1 chromosome segregation 1-like (yeast)	714					apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|protein export from nucleus (GO:0006611)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	importin-alpha export receptor activity (GO:0008262)			breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(11)|ovary(1)|prostate(3)|skin(2)|urinary_tract(2)	35			BRCA - Breast invasive adenocarcinoma(12;0.000491)|Colorectal(8;0.198)			TTCTTAGAACGCGGTTCAAAC	0.418																																						ENST00000262982.2																			0				breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(11)|ovary(1)|prostate(3)|skin(2)|urinary_tract(2)	35						c.(2140-2142)cGc>cAc		CSE1 chromosome segregation 1-like (yeast)		G	HIS/ARG	0,4406		0,0,2203	73	75	74		2141	4.8	0.9	20		74	1,8599	1.2+/-3.3	0,1,4299	no	missense	CSE1L	NM_001316.2	29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	714/972	47706243	1,13005	2203	4300	6503	SO:0001583	missense	1434				apoptosis|cell proliferation|intracellular protein transport	cytoplasm|nucleus	importin-alpha export receptor activity	g.chr20:47706243G>A	U33286	CCDS13412.1, CCDS58773.1	20q13	2013-05-01	2001-11-28		ENSG00000124207	ENSG00000124207		"Exportins"	2431	protein-coding gene	gene with protein product	"cellular apoptosis susceptibility"	601342	"chromosome segregation 1 (yeast homolog)-like"			8963895, 7479798	Standard	NM_001316		Approved	CAS, XPO2, CSE1	uc002xty.4	P55060	OTTHUMG00000033046	ENST00000262982.2:c.2141G>A	20.37:g.47706243G>A	ENSP00000262982:p.Arg714His					CSE1L_ENST00000396192.3_Missense_Mutation_p.R658H|CSE1L_ENST00000542325.1_Missense_Mutation_p.R497H	p.R714H	NM_001256135.1|NM_001316.3	NP_001243064.1|NP_001307.2	P55060	XPO2_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.000491)|Colorectal(8;0.198)		19	2264	+			714					A3RLL6|B2R5T4|E1P5Y0|F8W904|O75432|Q32M40|Q9H5B7|Q9NTS0|Q9UP98|Q9UP99|Q9UPA0	Missense_Mutation	SNP	ENST00000262982.2	37	c.2141G>A	CCDS13412.1	.	.	.	.	.	.	.	.	.	.	G	11.89	1.772683	0.31411	0.0	1.16E-4	ENSG00000124207	ENST00000417408;ENST00000262982;ENST00000542325;ENST00000396192	T;T;T	0.53640	0.61;0.61;0.61	5.72	4.76	0.60689	Armadillo-like helical (1);Armadillo-type fold (1);CAS/CSE, C-terminal (1);	0.147535	0.64402	D	0.000015	T	0.34221	0.0890	L	0.27975	0.815	0.50171	D	0.999855	B;B;B;B;B	0.15141	0.012;0.004;0.003;0.006;0.004	B;B;B;B;B	0.16289	0.002;0.004;0.015;0.008;0.004	T	0.08554	-1.0716	10	0.14252	T	0.57	-9.9472	15.6479	0.77068	0.0689:0.0:0.9311:0.0	.	403;497;658;658;714	F5GX54;B4DUC5;A3RLL6;F8W904;P55060	.;.;.;.;XPO2_HUMAN	H	312;714;497;658	ENSP00000262982:R714H;ENSP00000446477:R497H;ENSP00000379495:R658H	ENSP00000262982:R714H	R	+	2	0	CSE1L	47139650	1.000000	0.71417	0.945000	0.38365	0.942000	0.58702	4.946000	0.63576	2.865000	0.98341	0.655000	0.94253	CGC		0.418	CSE1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080345.2	NM_001316		16	43	0	0	0	1	0	16	43					A	47706243	G	A	47706243	3	1	94	1	0	0	0	0	1	0	0	0	3930	1087	38	1	2211	1	CSE1L	20	47706243	Missense_Mutation	SNP	G	TCGA-EJ-7782-01A-11D-2114-08	22109621	47706243	15319277	465	5284											
CTCFL	140690	broad.mit.edu	37	chr20	56099037	56099037	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agggtcaggatgtacttctcGctctcctccgagggggccag	6	9	14	12	2	3	0	1	0	2	0	6	2	4	1	3	4	1	2	3	4	1	2			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr20:56099037G>A	ENST00000608263.1	-	1	886	c.225C>T	c.(223-225)agC>agT	p.S75S	CTCFL_ENST00000423479.3_Silent_p.S75S|CTCFL_ENST00000502686.2_Intron|CTCFL_ENST00000608425.1_Silent_p.S75S|CTCFL_ENST00000608440.1_Silent_p.S75S|CTCFL_ENST00000429804.3_Silent_p.S75S|CTCFL_ENST00000432255.2_Silent_p.S75S|CTCFL_ENST00000608158.1_Silent_p.S75S|CTCFL_ENST00000608903.1_Intron|CTCFL_ENST00000371196.2_Silent_p.S75S|CTCFL_ENST00000243914.3_Silent_p.S75S|CTCFL_ENST00000608858.1_Intron|CTCFL_ENST00000433949.3_Intron|CTCFL_ENST00000539382.1_Intron|CTCFL_ENST00000609232.1_Silent_p.S75S|CTCFL_ENST00000422869.2_Silent_p.S75S|CTCFL_ENST00000481655.2_Silent_p.S75S	NM_001269041.1	NP_001255970.1	Q8NI51	CTCFL_HUMAN	CCCTC-binding factor (zinc finger protein)-like	75					cell cycle (GO:0007049)|DNA methylation involved in gamete generation (GO:0043046)|histone methylation (GO:0016571)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of histone H3-K4 methylation (GO:0051569)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone binding (GO:0042393)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(28)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58	Lung NSC(12;0.00132)|all_lung(29;0.00433)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;3.95e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.09e-07)			TGTACTTCTCGCTCTCCTCCG	0.597																																						ENST00000426658.2																			0				NS(1)|breast(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(28)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						c.(223-225)agC>agT		CCCTC-binding factor (zinc finger protein)-like							92	89	90					20																	56099037		2203	4299	6502	SO:0001819	synonymous_variant	140690				cell cycle|DNA methylation involved in gamete generation|histone methylation|positive regulation of transcription, DNA-dependent|regulation of gene expression by genetic imprinting|regulation of histone H3-K4 methylation|transcription, DNA-dependent	cytoplasm|nucleus	histone binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding	g.chr20:56099037G>A		CCDS13459.1, CCDS58776.1, CCDS58777.1, CCDS58778.1, CCDS58779.1, CCDS58780.1, CCDS58781.1, CCDS58782.1, CCDS68161.1, CCDS68162.1, CCDS68163.1, CCDS68164.1	20q13.31	2013-01-08			ENSG00000124092	ENSG00000124092		"Zinc fingers, C2H2-type"	16234	protein-coding gene	gene with protein product	"cancer/testis antigen 27"	607022					Standard	NM_001269040		Approved	dJ579F20.2, BORIS, CT27	uc010giw.1	Q8NI51	OTTHUMG00000032829	ENST00000608263.1:c.225C>T	20.37:g.56099037G>A						CTCFL_ENST00000433949.2_Silent_p.S75S|CTCFL_ENST00000432255.2_Silent_p.S75S|CTCFL_ENST00000429804.2_Silent_p.S75S|CTCFL_ENST00000243914.3_Silent_p.S75S|CTCFL_ENST00000423479.2_Silent_p.S75S|CTCFL_ENST00000422869.2_Silent_p.S75S|CTCFL_ENST00000422109.2_Silent_p.S75S|CTCFL_ENST00000539382.1_Intron|CTCFL_ENST00000502686.2_Intron|CTCFL_ENST00000371196.2_Silent_p.S75S	p.S75S			Q8NI51	CTCFL_HUMAN	BRCA - Breast invasive adenocarcinoma(13;3.95e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.09e-07)		1	886	-	Lung NSC(12;0.00132)|all_lung(29;0.00433)|Melanoma(10;0.242)		75					A0S6W1|A1L4C6|A6XGL8|A6XGM2|A6XGM3|A6XGM8|A6XGN0|A6XGN1|A6XGN2|A6XGN3|A6XGN4|E7EQ27|E7EUE3|E9PBA9|Q5JUG4|Q9BZ30|Q9NQJ3	Silent	SNP	ENST00000608263.1	37	c.225C>T	CCDS13459.1																																																																																				0.597	CTCFL-019	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000472040.1	NM_080618		52	88	0	0	0	1	0	52	88					A	56099037	G	A	56099037	2	1	94	1	0	0	0	0	0	0	0	1	4001	1078	38	1		1	CTCFL	20	56099037	Silent	SNP	G	TCGA-EJ-7782-01A-11D-2114-08	8392794	56099037	6926483	466	5285											
GTPBP5	26164	broad.mit.edu	37	chr20	60773005	60773005	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aactgcttcgggcgcagtggCgccgtcctctacatccgggt	5	9	13	14	5	1	0	0	0	1	0	4	0	3	0	3	3	3	2	3	3	2	2			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr20:60773005C>T	ENST00000370823.3	+	4	468	c.450C>T	c.(448-450)ggC>ggT	p.G150G	MTG2_ENST00000436421.2_Intron|MTG2_ENST00000461411.1_3'UTR|MTG2_ENST00000536470.1_5'UTR	NM_015666.3	NP_056481.1	Q9H4K7	MTG2_HUMAN	mitochondrial ribosome-associated GTPase 2	150	Localized in the mitochondria.|Not localized in the mitochondria.				GTP catabolic process (GO:0006184)|regulation of mitochondrial translation (GO:0070129)|regulation of respiratory system process (GO:0044065)|ribosome biogenesis (GO:0042254)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial ribosome (GO:0005761)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|magnesium ion binding (GO:0000287)										GGCGCAGTGGCGCCGTCCTCT	0.622																																						ENST00000370823.3																			0											c.(448-450)ggC>ggT		mitochondrial ribosome-associated GTPase 2							91	83	86					20																	60773005		2203	4300	6503	SO:0001819	synonymous_variant	26164							g.chr20:60773005C>T	AK001603	CCDS13492.1	20q13.33	2013-05-24	2013-05-24	2013-05-24	ENSG00000101181	ENSG00000101181			16239	protein-coding gene	gene with protein product		610919	"GTP-binding protein 5 (putative)", "GTP binding protein 5 (putative)"	GTPBP5		17054726, 23396448	Standard	NM_015666		Approved	FLJ10741, dJ1005F21.2, ObgH1		Q9H4K7	OTTHUMG00000032897	ENST00000370823.3:c.450C>T	20.37:g.60773005C>T						MTG2_ENST00000461411.1_3'UTR|MTG2_ENST00000536470.1_5'UTR|MTG2_ENST00000436421.2_Intron	p.G150G	NM_015666.3	NP_056481.1					4	468	+								A6NDR3|B4DR85|Q96I17|Q9NVG9|Q9UFR4	Silent	SNP	ENST00000370823.3	37	c.450C>T	CCDS13492.1																																																																																				0.622	MTG2-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079989.1	NM_015666		12	35	0	0	0	1	0	12	35					T	60773005	C	T	60773005	2	4	94	1	0	0	0	0	0	0	0	1	6883	755	27	1		1	GTPBP5	20	60773005	Silent	SNP	C	TCGA-EJ-7782-01A-11D-2114-08	4673968	60773005	2252515	467	5286											
NTSR1	4923	broad.mit.edu	37	chr20	61391477	61391477	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcgtctctgccaacttccGccacatcttcctggccacac	6	10	5	20	2	2	0	0	0	2	0	6	0	4	0	6	1	2	0	6	1	1	2	rs377711186		TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr20:61391477G>A	ENST00000370501.3	+	4	1486	c.1115G>A	c.(1114-1116)cGc>cAc	p.R372H	NTSR1_ENST00000482259.1_3'UTR	NM_002531.2	NP_002522.2	P30989	NTR1_HUMAN	neurotensin receptor 1 (high affinity)	372					adult locomotory behavior (GO:0008344)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of apoptotic process (GO:0043066)|neuropeptide signaling pathway (GO:0007218)|synaptic transmission (GO:0007268)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	G-protein coupled neurotensin receptor activity (GO:0016492)|G-protein coupled receptor activity (GO:0004930)	p.R372L(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(16)|prostate(1)|skin(3)	27	Breast(26;3.65e-08)		BRCA - Breast invasive adenocarcinoma(19;3.63e-06)			GCCAACTTCCGCCACATCTTC	0.587																																					GBM(37;400 780 6403 19663 35669)	ENST00000370501.3																			1	Substitution - Missense(1)	p.R372L(1)	endometrium(1)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(16)|prostate(1)|skin(3)	27						c.(1114-1116)cGc>cAc		neurotensin receptor 1 (high affinity)							199	162	175					20																	61391477		2203	4300	6503	SO:0001583	missense	4923					endoplasmic reticulum|Golgi apparatus|integral to plasma membrane	neurotensin receptor activity, G-protein coupled	g.chr20:61391477G>A		CCDS13502.1	20q13	2012-08-08			ENSG00000101188	ENSG00000101188		"GPCR / Class A : Neurotensin receptors"	8039	protein-coding gene	gene with protein product		162651				8075503	Standard	NM_002531		Approved	NTR	uc002ydf.3	P30989	OTTHUMG00000032932	ENST00000370501.3:c.1115G>A	20.37:g.61391477G>A	ENSP00000359532:p.Arg372His					NTSR1_ENST00000482259.1_3'UTR	p.R372H	NM_002531.2	NP_002522.2	P30989	NTR1_HUMAN	BRCA - Breast invasive adenocarcinoma(19;3.63e-06)		4	1486	+	Breast(26;3.65e-08)		372					Q9H4H1|Q9H4T5	Missense_Mutation	SNP	ENST00000370501.3	37	c.1115G>A	CCDS13502.1	.	.	.	.	.	.	.	.	.	.	G	32	5.170305	0.94768	.	.	ENSG00000101188	ENST00000370501	T	0.58358	0.34	4.71	4.71	0.59529	.	0.000000	0.85682	D	0.000000	T	0.64170	0.2574	L	0.32530	0.975	0.53688	D	0.999972	D	0.89917	1.0	D	0.87578	0.998	T	0.69146	-0.5222	10	0.87932	D	0	-34.0389	17.7144	0.88332	0.0:0.0:1.0:0.0	.	372	P30989	NTR1_HUMAN	H	372	ENSP00000359532:R372H	ENSP00000359532:R372H	R	+	2	0	NTSR1	60861922	1.000000	0.71417	1.000000	0.80357	0.856000	0.48823	9.365000	0.97139	2.153000	0.67306	0.650000	0.86243	CGC		0.587	NTSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080061.1			6	113	0	0	0	1	0	6	113					A	61391477	G	A	61391477	3	1	94	1	0	0	0	0	1	0	0	0	10710	1087	38	1	1129	1	NTSR1	20	61391477	Missense_Mutation	SNP	G	TCGA-EJ-7782-01A-11D-2114-08	618472	61391477	1634043	468	5287											
PCMTD2	55251	broad.mit.edu	37	chr20	62904703	62904703	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gaacacccccaggtttaaacGaaggagagttcgccgccgtc	11	6	11	13	4	0	1	0	0	0	1	2	4	0	1	4	2	2	2	4	2	4	3	rs139861996	byFrequency	TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr20:62904703G>A	ENST00000308824.6	+	6	963	c.836G>A	c.(835-837)cGa>cAa	p.R279Q	PCMTD2_ENST00000609372.1_Missense_Mutation_p.R129Q|PCMTD2_ENST00000369758.4_Missense_Mutation_p.R252Q|PCMTD2_ENST00000299468.7_Intron|PCMTD2_ENST00000266078.7_3'UTR	NM_018257.2	NP_060727.2	Q9NV79	PCMD2_HUMAN	protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 2	279	Poly-Arg.					cytoplasm (GO:0005737)	protein-L-isoaspartate (D-aspartate) O-methyltransferase activity (GO:0004719)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(9)|upper_aerodigestive_tract(1)	17	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					AGGTTTAAACGAAGGAGAGTT	0.473													G|||	4	0.000798722	0	0	5008	,	,		17784	0.003		0	False		,,,				2504	0.001					ENST00000308824.6																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(9)|upper_aerodigestive_tract(1)	17						c.(835-837)cGa>cAa		protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 2		G	GLN/ARG,GLN/ARG	0,4406		0,0,2203	84	93	90		755,836	5.4	0.1	20	dbSNP_134	90	1,8599		0,1,4299	yes	missense,missense	PCMTD2	NM_001104925.1,NM_018257.2	43,43	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging	252/335,279/362	62904703	1,13005	2203	4300	6503	SO:0001583	missense	55251					cytoplasm	protein-L-isoaspartate (D-aspartate) O-methyltransferase activity	g.chr20:62904703G>A	AK001745	CCDS13559.1, CCDS46631.1	20q13.33	2012-10-02	2005-10-06	2005-10-06	ENSG00000203880	ENSG00000203880			15882	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 36"	C20orf36			Standard	NM_018257		Approved	FLJ10883	uc002yil.4	Q9NV79	OTTHUMG00000033029	ENST00000308824.6:c.836G>A	20.37:g.62904703G>A	ENSP00000307854:p.Arg279Gln					PCMTD2_ENST00000369758.3_Missense_Mutation_p.R252Q|PCMTD2_ENST00000266078.6_Missense_Mutation_p.R55Q|PCMTD2_ENST00000299468.7_Intron	p.R279Q	NM_018257.2	NP_060727.2	Q9NV79	PCMD2_HUMAN			6	963	+	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)		279			Poly-Arg.		E1P5H3|Q8IW60|Q9H4K2	Missense_Mutation	SNP	ENST00000308824.6	37	c.836G>A	CCDS13559.1	3	0.0013736263736263737	0	0.0	0	0.0	3	0.005244755244755245	0	0.0	.	25.9	4.688415	0.88639	0.0	1.16E-4	ENSG00000203880	ENST00000369758;ENST00000308824;ENST00000266078	T;T;T	0.57273	0.41;1.29;0.41	5.41	5.41	0.78517	.	0.060169	0.64402	D	0.000003	T	0.56262	0.1973	M	0.71581	2.175	0.58432	D	0.999999	D;D	0.58970	0.981;0.984	P;B	0.49637	0.617;0.413	T	0.66999	-0.5781	10	0.72032	D	0.01	-8.5701	19.2064	0.93732	0.0:0.0:1.0:0.0	.	252;279	Q9NV79-2;Q9NV79	.;PCMD2_HUMAN	Q	252;279;55	ENSP00000358773:R252Q;ENSP00000307854:R279Q;ENSP00000266078:R55Q	ENSP00000266078:R55Q	R	+	2	0	PCMTD2	62375147	0.996000	0.38824	0.119000	0.21687	0.989000	0.77384	5.276000	0.65580	2.523000	0.85059	0.655000	0.94253	CGA		0.473	PCMTD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080301.1	NM_018257		22	69	0	0	0	1	0	22	69					A	62904703	G	A	62904703	3	1	94	1	0	0	0	0	1	0	0	0	11587	1058	37	2	854	2	PCMTD2	20	62904703	Missense_Mutation	SNP	G	TCGA-EJ-7782-01A-11D-2114-08	1513226	62904703	120817	469	5288											
SFRS15	57466	broad.mit.edu	37	chr21	33044256	33044257	+	In_Frame_Ins	INS	-	-	GCT																															aggctgttgtgatggtggtgINSgctgctgctgctgctgctgc																								rs578023456|rs369631764	byFrequency	TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr21:33044256_33044257insGCT	ENST00000286835.7	-	20	3281_3282	c.2899_2900insAGC	c.(2899-2901)cca>cAGCca	p.966_967insQ	SCAF4_ENST00000434667.3_In_Frame_Ins_p.951_952insQ|SCAF4_ENST00000399804.1_In_Frame_Ins_p.944_945insQ	NM_020706.2	NP_065757.1	O95104	SFR15_HUMAN	SR-related CTD-associated factor 4	966	Poly-Gln.					nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(11)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						TGATGGTGgtggctgctgctgc	0.574																																						ENST00000286835.7																			0				NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(11)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						c.(2899-2901)acc>AGCacc		SR-related CTD-associated factor 4																																				SO:0001652	inframe_insertion	57466					nucleus	nucleotide binding|RNA binding	g.chr21:33044256_33044257insGCT	AB032998	CCDS33537.1, CCDS46644.1, CCDS54482.1	21q22.1	2013-02-12	2011-01-10	2011-01-10	ENSG00000156304	ENSG00000156304		"RNA binding motif (RRM) containing"	19304	protein-coding gene	gene with protein product			"splicing factor, arginine/serine-rich 15"	SFRS15		10574461	Standard	NM_020706		Approved	KIAA1172, DKFZp434E098, SRA4	uc002ypd.2	O95104	OTTHUMG00000084903	ENST00000286835.7:c.2897_2899dupAGC	21.37:g.33044263_33044265dupGCT	ENSP00000286835:p.Gln966_Gln966dup					SCAF4_ENST00000399804.1_In_Frame_Ins_p.944_945insS|SCAF4_ENST00000434667.3_In_Frame_Ins_p.951_952insS	p.966_967insS	NM_020706.2	NP_065757.1	O95104	SFR15_HUMAN			20	3281_3282	-			966			Poly-Gln.		C9JLZ0|Q0P5W8|Q6P1M5|Q8N3I8|Q9UFM1|Q9ULP8	In_Frame_Ins	INS	ENST00000286835.7	37	c.2899_2900insAGC	CCDS33537.1																																																																																				0.574	SCAF4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000192659.1	XM_047889		14	74						14	74	---	---	---	---	GCT	33044257	-	GCT	33044256	7	5	94	1	0	1	1	0	0	0	0	0	14171	1348	47	0	547	0	SFRS15	21	33044256	In_Frame_Ins	INS	-	TCGA-EJ-7782-01A-11D-2114-08		33044256	15085639	470	5289											
GCFC1	94104	broad.mit.edu	37	chr21	34132172	34132173	+	Frame_Shift_Ins	INS	-	-	T																															gaaagggactgtattatctgINSttttttgagatttggcatct																										TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr21:34132172_34132173insT	ENST00000331923.4	-	6	1297_1298	c.1108_1109insA	c.(1108-1110)acafs	p.T370fs	PAXBP1_ENST00000472588.1_5'UTR|PAXBP1_ENST00000290178.4_Frame_Shift_Ins_p.T370fs	NM_016631.3	NP_057715.2	Q9Y5B6	PAXB1_HUMAN	PAX3 and PAX7 binding protein 1	370					muscle organ development (GO:0007517)|positive regulation of histone methylation (GO:0031062)|positive regulation of myoblast proliferation (GO:2000288)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of satellite cell proliferation (GO:0014842)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)										TGTATTATCTGTTTTTTGAGAT	0.406																																						ENST00000331923.4																			0											c.(1108-1110)agafs		PAX3 and PAX7 binding protein 1																																				SO:0001589	frameshift_variant	94104							g.chr21:34132172_34132173insT	AF231920	CCDS13619.1, CCDS33541.1	21q22.11	2014-01-23	2013-01-08	2013-01-08	ENSG00000159086	ENSG00000159086			13579	protein-coding gene	gene with protein product	"functional spliceosome-associated protein 105", "GC-rich sequence DNA-binding factor candidate"		"chromosome 21 open reading frame 66", "GC-rich sequence DNA-binding factor 1"	C21orf66, GCFC1		11707072, 22862948	Standard	NM_016631		Approved	GCFC, fSAP105	uc002yqn.3	Q9Y5B6	OTTHUMG00000064980	ENST00000331923.4:c.1109dupA	21.37:g.34132178_34132178dupT	ENSP00000328992:p.Thr370fs					PAXBP1_ENST00000472588.1_5'UTR|PAXBP1_ENST00000290178.4_Frame_Shift_Ins_p.R370fs	p.R370fs	NM_016631.3	NP_057715.2					6	1297_1298	-								D3DSE7|Q96DU8|Q9NYQ0	Frame_Shift_Ins	INS	ENST00000331923.4	37	c.1108_1109insA	CCDS13619.1																																																																																				0.406	PAXBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139563.1	NM_013329		26	85						26	85	---	---	---	---	T	34132173	-	T	34132172	7	5	94	1	0	1	1	0	0	0	0	0	6289	1377	48	0	1814	0	GCFC1	21	34132172	Frame_Shift_Ins	INS	-	TCGA-EJ-7782-01A-11D-2114-08	1087916	34132172	13997723	471	5290											
B3GALT5	10317	broad.mit.edu	37	chr21	41033216	41033216	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catacattaaactggaagacGtgtttgtggggctctgcctc	9	12	11	9	1	1	1	0	0	1	1	2	2	1	2	1	3	3	2	1	3	4	3			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr21:41033216G>A	ENST00000380620.4	+	5	1322	c.730G>A	c.(730-732)Gtg>Atg	p.V244M	B3GALT5_ENST00000398714.2_Missense_Mutation_p.V244M|AF064860.5_ENST00000416555.1_RNA|B3GALT5_ENST00000343118.4_Missense_Mutation_p.V244M|B3GALT5_ENST00000380618.1_Missense_Mutation_p.V244M			Q9Y2C3	B3GT5_HUMAN	UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 5	244					protein glycosylation (GO:0006486)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity (GO:0008499)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	16		Prostate(19;2.55e-06)				ACTGGAAGACGTGTTTGTGGG	0.557																																						ENST00000380620.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	16						c.(730-732)Gtg>Atg		UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 5							93	93	93					21																	41033216		2203	4300	6503	SO:0001583	missense	10317				protein glycosylation	endoplasmic reticulum|Golgi membrane|integral to membrane	UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity	g.chr21:41033216G>A	AB020337	CCDS13667.1, CCDS74795.1	21q22.3	2013-02-19			ENSG00000183778	ENSG00000183778		"Beta 3-glycosyltransferases"	920	protein-coding gene	gene with protein product	"homolog of C. elegans Bt toxin resistance gene bre-5", "GlcNAc-beta-1,3-galactosyltransferase 5"	604066				10212226	Standard	NM_006057		Approved	beta3Gal-T5, B3GalT-V, GLCT5, B3T5	uc002yyj.1	Q9Y2C3	OTTHUMG00000086725	ENST00000380620.4:c.730G>A	21.37:g.41033216G>A	ENSP00000369994:p.Val244Met					B3GALT5_ENST00000380618.1_Missense_Mutation_p.V244M|AF064860.5_ENST00000416555.1_RNA|B3GALT5_ENST00000398714.2_Missense_Mutation_p.V244M|B3GALT5_ENST00000343118.4_Missense_Mutation_p.V244M	p.V244M			Q9Y2C3	B3GT5_HUMAN			5	1322	+		Prostate(19;2.55e-06)	244					A8KA86|D3DSI3|Q2M3L5|Q53Z19|Q9NY96|Q9P1X6|Q9P1X7	Missense_Mutation	SNP	ENST00000380620.4	37	c.730G>A	CCDS13667.1	.	.	.	.	.	.	.	.	.	.	G	19.43	3.826611	0.71143	.	.	ENSG00000183778	ENST00000380620;ENST00000380618;ENST00000343118;ENST00000398714	D;D;D;D	0.85339	-1.97;-1.97;-1.97;-1.97	5.64	5.64	0.86602	.	0.000000	0.52532	D	0.000076	D	0.94578	0.8253	M	0.93062	3.375	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95303	0.8405	10	0.87932	D	0	.	19.7174	0.96129	0.0:0.0:1.0:0.0	.	244	Q9Y2C3	B3GT5_HUMAN	M	244	ENSP00000369994:V244M;ENSP00000369992:V244M;ENSP00000343318:V244M;ENSP00000381699:V244M	ENSP00000343318:V244M	V	+	1	0	B3GALT5	39955086	1.000000	0.71417	0.661000	0.29709	0.137000	0.21094	9.661000	0.98601	2.653000	0.90120	0.655000	0.94253	GTG		0.557	B3GALT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195008.2	NM_033170		26	56	0	0	0	1	0	26	56					A	41033216	G	A	41033216	3	1	94	1	0	0	0	0	1	0	0	0	1250	1145	40	1	732	1	B3GALT5	21	41033216	Missense_Mutation	SNP	G	TCGA-EJ-7782-01A-11D-2114-08	6901044	41033216	7096679	472	5291											
MCM3AP	8888	broad.mit.edu	37	chr21	47665033	47665033	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atggccaatcccgtcttcgaCgtactgaatgagagtctggc	9	10	11	11	3	2	2	0	2	2	1	4	4	3	2	2	2	1	1	2	2	3	2	rs17183248	byFrequency	TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr21:47665033C>T	ENST00000397708.1	-	24	4980	c.4726G>A	c.(4726-4728)Gtc>Atc	p.V1576I	MCM3AP_ENST00000467026.1_5'UTR|MCM3AP-AS1_ENST00000590829.1_RNA|MCM3AP-AS1_ENST00000455567.1_RNA|AP001469.7_ENST00000444966.1_RNA|MCM3AP-AS1_ENST00000421927.1_RNA|MCM3AP_ENST00000291688.1_Missense_Mutation_p.V1576I|MCM3AP-AS1_ENST00000591223.1_RNA|MCM3AP-AS1_ENST00000432735.1_RNA|MCM3AP-AS1_ENST00000588753.1_RNA|MCM3AP-AS1_ENST00000414659.1_RNA|MCM3AP-AS1_ENST00000444998.1_RNA			O60318	GANP_HUMAN	minichromosome maintenance complex component 3 associated protein	1576			V -> I (in dbSNP:rs17183248). {ECO:0000269|PubMed:16959974, ECO:0000269|Ref.2}.		DNA replication (GO:0006260)|immune system process (GO:0002376)|mRNA transport (GO:0051028)|protein import into nucleus (GO:0006606)	cytosol (GO:0005829)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	DNA binding (GO:0003677)|transferase activity, transferring acyl groups (GO:0016746)	p.V1576I(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	72	Breast(49;0.112)					CCGTCTTCGACGTACTGAATG	0.542													C|||	43	0.00858626	0.0295	0.0058	5008	,	,		19372	0		0	False		,,,				2504	0					ENST00000397708.1																			1	Substitution - Missense(1)	p.V1576I(1)	large_intestine(1)	NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	72						c.(4726-4728)Gtc>Atc		minichromosome maintenance complex component 3 associated protein		C	ILE/VAL	124,4282	88.2+/-126.9	4,116,2083	54	57	56		4726	-3.3	0.1	21	dbSNP_123	56	2,8598	1.2+/-3.3	0,2,4298	yes	missense	MCM3AP	NM_003906.3	29	4,118,6381	TT,TC,CC		0.0233,2.8143,0.9688	benign	1576/1981	47665033	126,12880	2203	4300	6503	SO:0001583	missense	8888				DNA replication|protein import into nucleus	cytosol|nucleus	DNA binding|nucleotide binding	g.chr21:47665033C>T	AB005543	CCDS13734.1	21q22.3	2012-12-19	2007-04-04		ENSG00000160294	ENSG00000160294			6946	protein-coding gene	gene with protein product	"germinal-centre associated nuclear protein"	603294	"minichromosome maintenance deficient (S. cerevisiae) 3-associated protein", "MCM3 minichromosome maintenance deficient 3 (S. cerevisiae) associated protein"			9712829, 16914116, 21195085	Standard	XM_005261205		Approved	Map80, KIAA0572, GANP, SAC3	uc002zir.1	O60318	OTTHUMG00000090630	ENST00000397708.1:c.4726G>A	21.37:g.47665033C>T	ENSP00000380820:p.Val1576Ile					MCM3AP-AS1_ENST00000455567.1_RNA|MCM3AP-AS1_ENST00000414659.1_RNA|MCM3AP_ENST00000291688.1_Missense_Mutation_p.V1576I|MCM3AP_ENST00000467026.1_5'UTR|MCM3AP-AS1_ENST00000590829.1_RNA	p.V1576I			O60318	MCM3A_HUMAN			24	4980	-	Breast(49;0.112)		1576		V -> I (in dbSNP:rs17183248).			C9JL56|Q2M3C1|Q6PJP6|Q9BSY5|Q9UMT4	Missense_Mutation	SNP	ENST00000397708.1	37	c.4726G>A	CCDS13734.1	13	0.005952380952380952	12	0.024390243902439025	1	0.0027624309392265192	0	0.0	0	0.0	C	5.774	0.327102	0.10900	0.028143	2.33E-4	ENSG00000160294	ENST00000397708;ENST00000291688;ENST00000539647	T;T	0.03386	3.95;3.95	5.31	-3.27	0.05048	.	0.520403	0.21443	N	0.074454	T	0.00608	0.0020	N	0.12961	0.28	0.09310	N	1	B;B	0.20780	0.009;0.048	B;B	0.09377	0.002;0.004	T	0.47459	-0.9116	10	0.10377	T	0.69	-4.043	8.8884	0.35418	0.0:0.3802:0.1015:0.5183	rs17183248	1576;71	O60318;B3KT88	MCM3A_HUMAN;.	I	1576;1576;71	ENSP00000380820:V1576I;ENSP00000291688:V1576I	ENSP00000291688:V1576I	V	-	1	0	MCM3AP	46489461	0.024000	0.19004	0.135000	0.22099	0.373000	0.29922	-0.355000	0.07671	-0.555000	0.06142	0.561000	0.74099	GTC		0.542	MCM3AP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207254.1	NM_003906		20	36	0	0	0	1	0	20	36					T	47665033	C	T	47665033	3	4	94	1	0	0	0	0	1	0	0	0	9388	536	19	1	1240	1	MCM3AP	21	47665033	Missense_Mutation	SNP	C	TCGA-EJ-7782-01A-11D-2114-08	6631817	47665033	464862	473	5292											
CLTCL1	8218	broad.mit.edu	37	chr22	19226837	19226837	+	Frame_Shift_Del	DEL	A	A	-																															tcattctgtgcctctggaggAaaaaacacatctactgcttt																										TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr22:19226837delA	ENST00000263200.10	-	5	828	c.756delT	c.(754-756)tttfs	p.F252fs	CLTCL1_ENST00000427926.1_Frame_Shift_Del_p.F252fs|CLTCL1_ENST00000353891.5_Frame_Shift_Del_p.F252fs	NM_007098.3	NP_009029.3	P53675	CLH2_HUMAN	clathrin, heavy chain-like 1	252	Globular terminal domain.|WD40-like repeat 5.				anatomical structure morphogenesis (GO:0009653)|intracellular protein transport (GO:0006886)|mitotic nuclear division (GO:0007067)|positive regulation of glucose import (GO:0046326)|receptor-mediated endocytosis (GO:0006898)|signal transduction (GO:0007165)	clathrin coat of coated pit (GO:0030132)|clathrin coat of trans-Golgi network vesicle (GO:0030130)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|coated vesicle (GO:0030135)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|spindle (GO:0005819)|trans-Golgi network (GO:0005802)	signal transducer activity (GO:0004871)|structural molecule activity (GO:0005198)			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	Colorectal(54;0.0993)					CCTCTGGAGGAAAAAACACAT	0.428			T	?	ALCL																																	ENST00000263200.10				Dom	yes		22	22q11.21	8218	T	"clathrin, heavy polypeptide-like 1"			L	?		ALCL		0				breast(2)|central_nervous_system(3)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						c.(754-756)ttfs		clathrin, heavy chain-like 1							207	206	206					22																	19226837		1917	4128	6045	SO:0001589	frameshift_variant	8218				anatomical structure morphogenesis|intracellular protein transport|mitosis|positive regulation of glucose import|receptor-mediated endocytosis	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|spindle|trans-Golgi network	protein binding|signal transducer activity|structural molecule activity	g.chr22:19226837delA		CCDS46662.1, CCDS54497.1, CCDS46662.2, CCDS54497.2	22q11.2	2008-06-10	2006-09-29		ENSG00000070371	ENSG00000070371			2093	protein-coding gene	gene with protein product		601273	"clathrin, heavy polypeptide-like 1"	CLTCL		8844170, 15133132	Standard	NM_007098		Approved	CLTD, CLH22, CHC22	uc021wle.1	P53675	OTTHUMG00000150109	ENST00000263200.10:c.756delT	22.37:g.19226837delA	ENSP00000445677:p.Phe252fs					CLTCL1_ENST00000353891.5_Frame_Shift_Del_p.F252fs|CLTCL1_ENST00000427926.1_Frame_Shift_Del_p.F252fs	p.F252fs	NM_007098.3	NP_009029.3	P53675	CLH2_HUMAN			5	828	-	Colorectal(54;0.0993)		252			Globular terminal domain.		B7Z7U5|Q14017|Q15808|Q15809	Frame_Shift_Del	DEL	ENST00000263200.10	37	c.756delT	CCDS46662.1																																																																																				0.428	CLTCL1-001	KNOWN	non_canonical_genome_sequence_error|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316397.5	NM_007098		42	97						42	97	---	---	---	---	-	19226837	A	-	19226837	7	5	94	1	0	1	0	1	0	0	0	0	3567	243	9	0	4278	0	CLTCL1	22	19226837	Frame_Shift_Del	DEL	A	TCGA-EJ-7782-01A-11D-2114-08		19226837	32077729	474	5293											
MED15	51586	broad.mit.edu	37	chr22	20939447	20939447	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tgatgagcggcagagcatccCcagtgtgctccagggtgagg	8	7	16	10	1	0	4	0	3	0	1	2	4	2	4	3	3	3	3	3	3	0	0			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr22:20939447C>T	ENST00000263205.7	+	16	2093	c.2024C>T	c.(2023-2025)cCc>cTc	p.P675L	MED15_ENST00000406969.1_Missense_Mutation_p.P609L|MED15_ENST00000292733.7_Missense_Mutation_p.P635L|MED15_ENST00000382974.2_Missense_Mutation_p.P564L|MED15_ENST00000425759.2_Missense_Mutation_p.P524L|MED15_ENST00000542773.1_3'UTR|MED15_ENST00000541476.1_Missense_Mutation_p.P609L	NM_001003891.1	NP_001003891.1	Q96RN5	MED15_HUMAN	mediator complex subunit 15	675					gene expression (GO:0010467)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	RNA polymerase II transcription cofactor activity (GO:0001104)			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	25	all_cancers(11;2.07e-24)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)|Epithelial(17;0.209)			CAGAGCATCCCCAGTGTGCTC	0.642																																						ENST00000263205.7																			0				central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	25						c.(2023-2025)cCc>cTc		mediator complex subunit 15							84	67	73					22																	20939447		2203	4300	6503	SO:0001583	missense	51586				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|mediator complex	protein binding	g.chr22:20939447C>T	AF056191	CCDS13781.1, CCDS33602.1, CCDS74824.1	22q11.2	2007-07-30	2007-07-30	2007-07-30	ENSG00000099917	ENSG00000099917			14248	protein-coding gene	gene with protein product		607372	"trinucleotide repeat containing 7", "PC2 (positive cofactor 2, multiprotein complex) glutamine/Q-rich-associated protein"	TNRC7, PCQAP		11024300, 11414760, 15175163	Standard	XM_005261632		Approved	TIG-1, CAG7A, Arc105	uc002zsp.3	Q96RN5	OTTHUMG00000150810	ENST00000263205.7:c.2024C>T	22.37:g.20939447C>T	ENSP00000263205:p.Pro675Leu					MED15_ENST00000292733.7_Missense_Mutation_p.P635L|MED15_ENST00000541476.1_Missense_Mutation_p.P609L|MED15_ENST00000542773.1_3'UTR|MED15_ENST00000382974.2_Missense_Mutation_p.P564L|MED15_ENST00000406969.1_Missense_Mutation_p.P609L|MED15_ENST00000425759.2_Missense_Mutation_p.P524L	p.P675L	NM_001003891.1	NP_001003891.1	Q96RN5	MED15_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)|Epithelial(17;0.209)		16	2093	+	all_cancers(11;2.07e-24)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	675					D3DX31|D3DX32|O15413|Q6IC31|Q8NF16|Q96CT0|Q96IH7|Q9P1T3	Missense_Mutation	SNP	ENST00000263205.7	37	c.2024C>T	CCDS33602.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.980091	0.74474	.	.	ENSG00000099917	ENST00000425759;ENST00000292733;ENST00000263205;ENST00000406969;ENST00000382974;ENST00000541476;ENST00000542312	.	.	.	4.68	4.68	0.58851	Mediator complex, subunit Med15, metazoa (1);	0.000000	0.85682	D	0.000000	T	0.79787	0.4506	M	0.80332	2.49	0.80722	D	1	D;D;B;D;P;D	0.89917	1.0;1.0;0.121;1.0;0.946;1.0	D;D;B;D;P;D	0.91635	0.999;0.999;0.069;0.998;0.507;0.999	T	0.83168	-0.0095	9	0.87932	D	0	.	15.4264	0.75055	0.0:1.0:0.0:0.0	.	605;654;291;609;635;675	B4DGD6;Q6PKB8;B3KWF1;G3V1P5;Q96RN5-2;Q96RN5	.;.;.;.;.;MED15_HUMAN	L	524;635;675;609;564;609;605	.	ENSP00000263205:P675L	P	+	2	0	MED15	19269447	1.000000	0.71417	1.000000	0.80357	0.431000	0.31685	7.566000	0.82347	2.308000	0.77769	0.313000	0.20887	CCC		0.642	MED15-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000320177.2	NM_015889		19	27	0	0	0	1	0	19	27					T	20939447	C	T	20939447	3	4	94	1	0	0	0	0	1	0	0	0	9433	623	22	3	2086	3	MED15	22	20939447	Missense_Mutation	SNP	C	TCGA-EJ-7782-01A-11D-2114-08	1712610	20939447	30365119	475	5294											
MAPK1	5594	broad.mit.edu	37	chr22	22153339	22153339	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctggagccctgtaccaacGtgtggccacatattctgtca	8	12	9	12	1	3	0	1	0	2	0	3	1	3	1	3	2	3	1	3	2	3	4			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr22:22153339G>A	ENST00000215832.6	-	4	759	c.571C>T	c.(571-573)Cgt>Tgt	p.R191C	MAPK1_ENST00000398822.3_Missense_Mutation_p.R191C|MAPK1_ENST00000544786.1_Missense_Mutation_p.R191C	NM_002745.4	NP_002736.3	P28482	MK01_HUMAN	mitogen-activated protein kinase 1	191	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|caveolin-mediated endocytosis (GO:0072584)|cell cycle (GO:0007049)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to granulocyte macrophage colony-stimulating factor stimulus (GO:0097011)|chemotaxis (GO:0006935)|cytosine metabolic process (GO:0019858)|epidermal growth factor receptor signaling pathway (GO:0007173)|ERBB signaling pathway (GO:0038127)|ERK1 and ERK2 cascade (GO:0070371)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|labyrinthine layer blood vessel development (GO:0060716)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|mammary gland epithelial cell proliferation (GO:0033598)|MAPK cascade (GO:0000165)|MAPK import into nucleus (GO:0000189)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of cell differentiation (GO:0045596)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|platelet activation (GO:0030168)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of translation (GO:0045727)|Ras protein signal transduction (GO:0007265)|regulation of cytoskeleton organization (GO:0051493)|regulation of early endosome to late endosome transport (GO:2000641)|regulation of Golgi inheritance (GO:0090170)|regulation of protein stability (GO:0031647)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|regulation of stress-activated MAPK cascade (GO:0032872)|response to epidermal growth factor (GO:0070849)|response to estrogen (GO:0043627)|response to exogenous dsRNA (GO:0043330)|response to stress (GO:0006950)|response to toxic substance (GO:0009636)|sensory perception of pain (GO:0019233)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|stress-activated MAPK cascade (GO:0051403)|synaptic transmission (GO:0007268)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription, DNA-templated (GO:0006351)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral process (GO:0016032)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite cytoplasm (GO:0032839)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|late endosome (GO:0005770)|microtubule cytoskeleton (GO:0015630)|mitochondrion (GO:0005739)|mitotic spindle (GO:0072686)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perikaryon (GO:0043204)|protein complex (GO:0043234)|pseudopodium (GO:0031143)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|MAP kinase activity (GO:0004707)|phosphatase binding (GO:0019902)|protein serine/threonine kinase activity (GO:0004674)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	Colorectal(54;0.105)	all_lung(157;3.89e-05)		READ - Rectum adenocarcinoma(21;0.0689)	Arsenic trioxide(DB01169)|Isoprenaline(DB01064)	CTGTACCAACGTGTGGCCACA	0.428																																						ENST00000215832.6																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						c.(571-573)Cgt>Tgt		mitogen-activated protein kinase 1	Arsenic trioxide(DB01169)						99	87	91					22																	22153339		2203	4300	6503	SO:0001583	missense	5594				activation of MAPK activity|activation of MAPKK activity|axon guidance|cell cycle|epidermal growth factor receptor signaling pathway|ERK1 and ERK2 cascade|induction of apoptosis|innate immune response|insulin receptor signaling pathway|interspecies interaction between organisms|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|Ras protein signal transduction|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription, DNA-dependent	cytosol|nucleoplasm	ATP binding|DNA binding|MAP kinase activity|phosphatase binding|RNA polymerase II carboxy-terminal domain kinase activity	g.chr22:22153339G>A	M84489	CCDS13795.1	22q11.2	2014-09-17			ENSG00000100030	ENSG00000100030	2.7.11.1	"Mitogen-activated protein kinase cascade / Kinases"	6871	protein-coding gene	gene with protein product		176948		PRKM2, PRKM1			Standard	NM_138957		Approved	ERK, ERK2, p41mapk, MAPK2	uc002zvn.3	P28482	OTTHUMG00000030508	ENST00000215832.6:c.571C>T	22.37:g.22153339G>A	ENSP00000215832:p.Arg191Cys					MAPK1_ENST00000398822.3_Missense_Mutation_p.R191C|MAPK1_ENST00000544786.1_Missense_Mutation_p.R191C	p.R191C	NM_002745.4	NP_002736.3	P28482	MK01_HUMAN		READ - Rectum adenocarcinoma(21;0.0689)	4	759	-	Colorectal(54;0.105)	all_lung(157;3.89e-05)	191			Protein kinase.		A8CZ64	Missense_Mutation	SNP	ENST00000215832.6	37	c.571C>T	CCDS13795.1	.	.	.	.	.	.	.	.	.	.	G	33	5.248120	0.95305	.	.	ENSG00000100030	ENST00000215832;ENST00000415911;ENST00000398822;ENST00000544786	T;T;T	0.49720	0.77;0.77;0.77	5.31	5.31	0.75309	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.72162	0.3426	M	0.82132	2.575	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.75382	-0.3337	10	0.87932	D	0	.	19.1626	0.93539	0.0:0.0:1.0:0.0	.	191;191	A8CZ64;P28482	.;MK01_HUMAN	C	191;179;191;191	ENSP00000215832:R191C;ENSP00000381803:R191C;ENSP00000440842:R191C	ENSP00000215832:R191C	R	-	1	0	MAPK1	20483339	1.000000	0.71417	0.999000	0.59377	0.947000	0.59692	9.657000	0.98554	2.768000	0.95171	0.561000	0.74099	CGT		0.428	MAPK1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000075396.2			12	38	0	0	0	1	0	12	38					A	22153339	G	A	22153339	3	1	94	1	0	0	0	0	1	0	0	0	9271	1145	40	1	531	1	MAPK1	22	22153339	Missense_Mutation	SNP	G	TCGA-EJ-7782-01A-11D-2114-08	1213892	22153339	29151227	476	5295											
GNAZ	2781	broad.mit.edu	37	chr22	23438097	23438099	+	In_Frame_Del	DEL	TCA	TCA	-																															ctgcaaggagtacaagccccTcatcatctacaatgccatcg																										TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr22:23438097_23438099delTCA	ENST00000248996.4	+	2	881_883	c.215_217delTCA	c.(214-219)ctcatc>ctc	p.I74del	RTDR1_ENST00000216036.4_Intron	NM_002073.2	NP_002064.1	P19086	GNAZ_HUMAN	guanine nucleotide binding protein (G protein), alpha z polypeptide	74					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)	G-protein beta/gamma-subunit complex binding (GO:0031683)|G-protein coupled serotonin receptor binding (GO:0031821)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|receptor signaling protein activity (GO:0005057)|signal transducer activity (GO:0004871)			endometrium(3)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(5)|urinary_tract(1)	19	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)			READ - Rectum adenocarcinoma(21;0.166)		TACAAGCCCCTCATCATCTACAA	0.606																																						ENST00000248996.4																			0				endometrium(3)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(5)|urinary_tract(1)	19						c.(214-219)ctc>c		guanine nucleotide binding protein (G protein), alpha z polypeptide																																				SO:0001651	inframe_deletion	2781					endoplasmic reticulum|heterotrimeric G-protein complex|nuclear envelope	G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|metabotropic serotonin receptor binding|receptor signaling protein activity	g.chr22:23438097_23438099delTCA		CCDS13804.1	22q11.1-q11.2	2008-06-10			ENSG00000128266	ENSG00000128266			4395	protein-coding gene	gene with protein product		139160				2115889	Standard	NM_002073		Approved		uc002zwu.1	P19086	OTTHUMG00000150611	ENST00000248996.4:c.215_217delTCA	22.37:g.23438100_23438102delTCA	ENSP00000248996:p.Ile74del					RTDR1_ENST00000216036.4_Intron	p.LI72del	NM_002073.2	NP_002064.1	P19086	GNAZ_HUMAN		READ - Rectum adenocarcinoma(21;0.166)	2	881_883	+	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)		72					B2R6C1|Q4QRJ6	In_Frame_Del	DEL	ENST00000248996.4	37	c.215_217delTCA	CCDS13804.1																																																																																				0.606	GNAZ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319073.1	NM_002073		17	160						17	160	---	---	---	---	-	23438099	TCA	-	23438097	7	5	94	1	0	1	0	1	0	0	0	0	6514	1551	54	0	217	0	GNAZ	22	23438097	In_Frame_Del	DEL	TCA	TCGA-EJ-7782-01A-11D-2114-08	1284758	23438097	27866469	477	5296											
MTMR3	8897	broad.mit.edu	37	chr22	30416462	30416462	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagagactgaaaacagggcCtcagagcagcccccaggtct	12	4	11	14	0	2	3	1	1	1	2	2	4	2	3	4	2	3	1	4	2	2	0			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr22:30416462C>A	ENST00000401950.2	+	17	3156	c.2814C>A	c.(2812-2814)gcC>gcA	p.A938A	MTMR3_ENST00000323630.5_Silent_p.A802A|CTA-85E5.10_ENST00000453743.2_RNA|CTA-85E5.10_ENST00000429350.1_RNA|MTMR3_ENST00000406629.1_Silent_p.A938A|MTMR3_ENST00000333027.3_Silent_p.A938A|MTMR3_ENST00000351488.3_Silent_p.A938A	NM_021090.3	NP_066576.1	Q13615	MTMR3_HUMAN	myotubularin related protein 3	938					peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|protein dephosphorylation (GO:0006470)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extrinsic component of membrane (GO:0019898)|membrane (GO:0016020)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity (GO:0052629)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)			breast(3)|large_intestine(3)|ovary(2)|skin(8)|upper_aerodigestive_tract(1)	17			OV - Ovarian serous cystadenocarcinoma(5;0.00204)|Epithelial(10;0.06)|all cancers(5;0.107)			AAAACAGGGCCTCAGAGCAGC	0.587																																						ENST00000333027.3																			0				breast(3)|large_intestine(3)|ovary(2)|skin(8)|upper_aerodigestive_tract(1)	17						c.(2812-2814)gcC>gcA		myotubularin related protein 3							80	73	75					22																	30416462		2203	4300	6503	SO:0001819	synonymous_variant	8897				phosphatidylinositol dephosphorylation	cytoplasm|membrane|membrane fraction|nucleus	metal ion binding|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity	g.chr22:30416462C>A	U58034	CCDS13870.1, CCDS13871.1, CCDS46682.1	22q12.2	2011-06-09			ENSG00000100330	ENSG00000100330		"Zinc fingers, FYVE domain containing", "Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"	7451	protein-coding gene	gene with protein product		603558				8640223, 9736772	Standard	NM_153050		Approved	KIAA0371, ZFYVE10, FYVE-DSP1	uc003agv.4	Q13615	OTTHUMG00000151278	ENST00000401950.2:c.2814C>A	22.37:g.30416462C>A						MTMR3_ENST00000351488.3_Silent_p.A938A|CTA-85E5.10_ENST00000429350.1_RNA|MTMR3_ENST00000406629.1_Silent_p.A938A|MTMR3_ENST00000401950.2_Silent_p.A938A|MTMR3_ENST00000323630.5_Silent_p.A802A	p.A938A	NM_153050.2|NM_153051.2	NP_694690.1|NP_694691.1	Q13615	MTMR3_HUMAN	OV - Ovarian serous cystadenocarcinoma(5;0.00204)|Epithelial(10;0.06)|all cancers(5;0.107)		17	3142	+			938					A5PL26|A7MD32|Q9NYN5|Q9NYN6|Q9UDX6|Q9UEG3	Silent	SNP	ENST00000401950.2	37	c.2814C>A	CCDS13870.1																																																																																				0.587	MTMR3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000322066.1	NM_021090		20	47	1	0	1.56452e-12	1	1.67209e-12	20	47					A	30416462	C	A	30416462	2	1	94	1	0	0	0	0	0	0	0	1	9945	668	24	5		5	MTMR3	22	30416462	Silent	SNP	C	TCGA-EJ-7782-01A-11D-2114-08	6978365	30416462	20888104	478	5297											
RNF215	200312	broad.mit.edu	37	chr22	30776081	30776081	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagaagtagtccaggcacacCgcacaggtctcagcacccgg	11	4	11	15	2	1	1	1	0	1	1	3	1	2	1	3	3	1	4	3	3	2	1	rs567963097		TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr22:30776081C>T	ENST00000382363.3	-	7	1052	c.978G>A	c.(976-978)gcG>gcA	p.A326A	RP1-130H16.16_ENST00000332468.4_RNA	NM_001017981.1	NP_001017981.1	Q9Y6U7	RN215_HUMAN	ring finger protein 215	326						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(2)	6						CCAGGCACACCGCACAGGTCT	0.647													C|||	1	0.000199681	0	0	5008	,	,		16328	0		0	False		,,,				2504	0.001					ENST00000382363.3																			0				central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(2)	6						c.(976-978)gcG>gcA		ring finger protein 215							79	86	84					22																	30776081		2203	4300	6503	SO:0001819	synonymous_variant	200312					integral to membrane	zinc ion binding	g.chr22:30776081C>T		CCDS33633.1	22q12.2	2013-01-09			ENSG00000099999	ENSG00000099999		"RING-type (C3HC4) zinc fingers"	33434	protein-coding gene	gene with protein product							Standard	NM_001017981		Approved		uc003ahp.3	Q9Y6U7	OTTHUMG00000151016	ENST00000382363.3:c.978G>A	22.37:g.30776081C>T							p.A326A	NM_001017981.1	NP_001017981.1	Q9Y6U7	RN215_HUMAN			7	1052	-			326					A6NEL1	Silent	SNP	ENST00000382363.3	37	c.978G>A	CCDS33633.1	.	.	.	.	.	.	.	.	.	.	C	0.035	-1.309092	0.01342	.	.	ENSG00000099999	ENST00000215798	.	.	.	3.86	-7.73	0.01245	.	.	.	.	.	T	0.46521	0.1397	.	.	.	0.50313	D	0.999861	.	.	.	.	.	.	T	0.57602	-0.7783	4	.	.	.	-3.9113	6.4576	0.21938	0.2231:0.0885:0.5144:0.174	.	.	.	.	S	264	.	.	G	-	1	0	RNF215	29106081	0.000000	0.05858	0.066000	0.19879	0.026000	0.11368	-3.877000	0.00344	-3.990000	0.00084	-2.061000	0.00397	GGT		0.647	RNF215-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320960.1	NM_001017981		5	72	0	0	0	1	0	5	72					T	30776081	C	T	30776081	2	4	94	1	0	0	0	0	0	0	0	1	13479	639	23	2		2	RNF215	22	30776081	Silent	SNP	C	TCGA-EJ-7782-01A-11D-2114-08	359619	30776081	20528485	479	5298											
RNF215	200312	broad.mit.edu	37	chr22	30776149	30776149	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagccggcagcgccgtgtctTgagggatgccagtctccgca	6	7	14	14	4	2	1	0	1	2	0	3	2	2	2	4	2	3	2	4	2	0	1			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr22:30776149T>C	ENST00000382363.3	-	7	984	c.910A>G	c.(910-912)Aag>Gag	p.K304E	RP1-130H16.16_ENST00000332468.4_RNA	NM_001017981.1	NP_001017981.1	Q9Y6U7	RN215_HUMAN	ring finger protein 215	304						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(2)	6						CGCCGTGTCTTGAGGGATGCC	0.657																																						ENST00000382363.3																			0				central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(2)	6						c.(910-912)Aag>Gag		ring finger protein 215							54	63	60					22																	30776149		2203	4300	6503	SO:0001583	missense	200312					integral to membrane	zinc ion binding	g.chr22:30776149T>C		CCDS33633.1	22q12.2	2013-01-09			ENSG00000099999	ENSG00000099999		"RING-type (C3HC4) zinc fingers"	33434	protein-coding gene	gene with protein product							Standard	NM_001017981		Approved		uc003ahp.3	Q9Y6U7	OTTHUMG00000151016	ENST00000382363.3:c.910A>G	22.37:g.30776149T>C	ENSP00000371800:p.Lys304Glu						p.K304E	NM_001017981.1	NP_001017981.1	Q9Y6U7	RN215_HUMAN			7	984	-			304					A6NEL1	Missense_Mutation	SNP	ENST00000382363.3	37	c.910A>G	CCDS33633.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	25.6|25.6	4.657403|4.657403	0.88154|0.88154	.|.	.|.	ENSG00000099999|ENSG00000099999	ENST00000382363|ENST00000215798	T|.	0.18960|.	2.18|.	3.61|3.61	3.61|3.61	0.41365|0.41365	.|.	0.197313|.	0.42294|.	D|.	0.000723|.	T|T	0.43411|0.43411	0.1246|0.1246	N|N	0.24115|0.24115	0.695|0.695	0.80722|0.80722	D|D	1|1	D|.	0.58268|.	0.982|.	P|.	0.49799|.	0.622|.	T|T	0.25398|0.25398	-1.0133|-1.0133	10|5	0.25751|.	T|.	0.34|.	-24.3446|-24.3446	10.9128|10.9128	0.47118|0.47118	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	304|.	Q9Y6U7|.	RN215_HUMAN|.	E|R	304|241	ENSP00000371800:K304E|.	ENSP00000371800:K304E|.	K|Q	-|-	1|2	0|0	RNF215|RNF215	29106149|29106149	0.984000|0.984000	0.35163|0.35163	1.000000|1.000000	0.80357|0.80357	0.970000|0.970000	0.65996|0.65996	1.391000|1.391000	0.34475|0.34475	1.643000|1.643000	0.50594|0.50594	0.459000|0.459000	0.35465|0.35465	AAG|CAA		0.657	RNF215-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320960.1	NM_001017981		10	65	0	0	0	1	0	10	65					C	30776149	T	C	30776149	3	2	94	1	0	0	0	0	1	0	0	0	13479	1821	63	4	235	4	RNF215	22	30776149	Missense_Mutation	SNP	T	TCGA-EJ-7782-01A-11D-2114-08	68	30776149	20528417	480	5299											
GAL3ST1	9514	broad.mit.edu	37	chr22	30951602	30951602	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	attgaagccgttggggtcgtAgtagcgatccgggtcttgca	7	11	15	8	4	1	1	0	1	1	0	3	2	2	1	2	3	3	4	2	3	3	5			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr22:30951602A>G	ENST00000402321.1	-	3	927	c.610T>C	c.(610-612)Tac>Cac	p.Y204H	GAL3ST1_ENST00000406955.1_Missense_Mutation_p.Y204H|GAL3ST1_ENST00000443111.2_Missense_Mutation_p.Y204H|GAL3ST1_ENST00000406361.1_Missense_Mutation_p.Y204H|GAL3ST1_ENST00000338911.5_Missense_Mutation_p.Y204H|GAL3ST1_ENST00000401975.1_Missense_Mutation_p.Y204H|GAL3ST1_ENST00000402369.1_Missense_Mutation_p.Y204H			Q99999	G3ST1_HUMAN	galactose-3-O-sulfotransferase 1	204					galactosylceramide biosynthetic process (GO:0006682)|glycosphingolipid metabolic process (GO:0006687)|myelination (GO:0042552)|protein N-linked glycosylation (GO:0006487)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)|sphingolipid metabolic process (GO:0006665)	Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	galactosylceramide sulfotransferase activity (GO:0001733)|sulfotransferase activity (GO:0008146)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	21						TTGGGGTCGTAGTAGCGATCC	0.627																																						ENST00000402321.1																			0				NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	21						c.(610-612)Tac>Cac		galactose-3-O-sulfotransferase 1							80	69	73					22																	30951602		2203	4297	6500	SO:0001583	missense	9514				protein N-linked glycosylation	Golgi membrane|integral to plasma membrane|membrane fraction	galactosylceramide sulfotransferase activity	g.chr22:30951602A>G	D88667	CCDS13879.1	22q12.2	2007-04-02			ENSG00000128242	ENSG00000128242		"Sulfotransferases, membrane-bound"	24240	protein-coding gene	gene with protein product	"cerebroside (3' phosphoadenylylsulfate:galactosylceramide 3') sulfotransferase"	602300				9847074, 9030544	Standard	NM_004861		Approved	CST	uc003aii.1	Q99999	OTTHUMG00000151200	ENST00000402321.1:c.610T>C	22.37:g.30951602A>G	ENSP00000385735:p.Tyr204His					GAL3ST1_ENST00000443111.2_Missense_Mutation_p.Y204H|GAL3ST1_ENST00000401975.1_Missense_Mutation_p.Y204H|GAL3ST1_ENST00000406361.1_Missense_Mutation_p.Y204H|GAL3ST1_ENST00000402369.1_Missense_Mutation_p.Y204H|GAL3ST1_ENST00000406955.1_Missense_Mutation_p.Y204H|GAL3ST1_ENST00000338911.5_Missense_Mutation_p.Y204H	p.Y204H			Q99999	G3ST1_HUMAN			3	927	-			204					Q96C63	Missense_Mutation	SNP	ENST00000402321.1	37	c.610T>C	CCDS13879.1	.	.	.	.	.	.	.	.	.	.	A	16.93	3.257977	0.59321	.	.	ENSG00000128242	ENST00000406955;ENST00000402321;ENST00000402369;ENST00000401975;ENST00000338911;ENST00000406361;ENST00000443111;ENST00000441967;ENST00000431313;ENST00000452827	T;T;T;T;T;T;T;T;T;T	0.26660	1.72;1.72;1.72;1.72;1.72;1.72;1.72;1.72;1.72;1.72	5.25	5.25	0.73442	.	0.054893	0.85682	D	0.000000	T	0.35393	0.0930	M	0.72894	2.215	0.80722	D	1	P	0.35033	0.481	B	0.40038	0.317	T	0.17018	-1.0383	10	0.48119	T	0.1	-10.3438	14.7721	0.69688	1.0:0.0:0.0:0.0	.	204	Q99999	G3ST1_HUMAN	H	204;204;204;204;204;204;204;204;205;204	ENSP00000385825:Y204H;ENSP00000385735:Y204H;ENSP00000384122:Y204H;ENSP00000384388:Y204H;ENSP00000343234:Y204H;ENSP00000385207:Y204H;ENSP00000402587:Y204H;ENSP00000390545:Y204H;ENSP00000395080:Y205H;ENSP00000405017:Y204H	ENSP00000343234:Y204H	Y	-	1	0	GAL3ST1	29281602	1.000000	0.71417	1.000000	0.80357	0.891000	0.51852	9.232000	0.95325	1.987000	0.57996	0.397000	0.26171	TAC		0.627	GAL3ST1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321745.1	NM_004861		6	67	0	0	0	1	0	6	67					G	30951602	A	G	30951602	3	3	94	1	0	0	0	0	1	0	0	0	6197	420	15	4	665	4	GAL3ST1	22	30951602	Missense_Mutation	SNP	A	TCGA-EJ-7782-01A-11D-2114-08	175453	30951602	20352964	481	5300											
IL2RB	3560	broad.mit.edu	37	chr22	37524301	37524301	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ccagcgtcagggacctcctcCccagcctctcgcagcaccag	7	5	9	20	2	2	0	1	0	1	0	5	1	4	1	7	1	3	2	7	1	0	0			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr22:37524301C>T	ENST00000216223.5	-	10	1689	c.1491G>A	c.(1489-1491)ggG>ggA	p.G497G		NM_000878.3	NP_000869.1	P14784	IL2RB_HUMAN	interleukin 2 receptor, beta	497					cytokine-mediated signaling pathway (GO:0019221)|interleukin-2-mediated signaling pathway (GO:0038110)|negative regulation of apoptotic process (GO:0043066)|protein complex assembly (GO:0006461)|signal transduction (GO:0007165)|viral process (GO:0016032)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	interleukin-2 binding (GO:0019976)|interleukin-2 receptor activity (GO:0004911)			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(5)	23					Aldesleukin(DB00041)|Basiliximab(DB00074)|Daclizumab(DB00111)|Denileukin diftitox(DB00004)	GGACCTCCTCCCCAGCCTCTC	0.692																																						ENST00000216223.5																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(5)	23						c.(1489-1491)ggG>ggA		interleukin 2 receptor, beta	Aldesleukin(DB00041)|Basiliximab(DB00074)|Daclizumab(DB00111)|Denileukin diftitox(DB00004)						24	27	26					22																	37524301		2202	4288	6490	SO:0001819	synonymous_variant	0				interspecies interaction between organisms|positive regulation of survival gene product expression|protein complex assembly	external side of plasma membrane|integral to plasma membrane	interleukin-2 receptor activity	g.chr22:37524301C>T	M26062	CCDS13942.1	22q13	2011-02-15			ENSG00000100385	ENSG00000100385		"Interleukins and interleukin receptors", "CD molecules"	6009	protein-coding gene	gene with protein product		146710	"interleukin 15 receptor, beta"	IL15RB			Standard	NM_000878		Approved	CD122	uc003aqv.1	P14784	OTTHUMG00000150534	ENST00000216223.5:c.1491G>A	22.37:g.37524301C>T							p.G497G	NM_000878.3	NP_000869.1	P14784	IL2RB_HUMAN			10	1689	-			497					B2R765	Silent	SNP	ENST00000216223.5	37	c.1491G>A	CCDS13942.1																																																																																				0.692	IL2RB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318792.1			6	15	0	0	0	1	0	6	15					T	37524301	C	T	37524301	2	4	94	1	0	0	0	0	0	0	0	1	7687	610	22	3		3	IL2RB	22	37524301	Silent	SNP	C	TCGA-EJ-7782-01A-11D-2114-08	6572699	37524301	13780265	482	5301											
TAB1	10454	broad.mit.edu	37	chr22	39814776	39814776	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	atgcaaatcgacagtggatgGgttgcaggtgacacagctga	12	8	14	7	1	0	2	0	2	0	0	1	4	0	3	0	3	3	4	0	3	1	1			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr22:39814776G>T	ENST00000216160.6	+	6	652	c.590G>T	c.(589-591)gGg>gTg	p.G197V	TAB1_ENST00000331454.3_Missense_Mutation_p.G197V	NM_006116.2	NP_006107.1	Q15750	TAB1_HUMAN	TGF-beta activated kinase 1/MAP3K7 binding protein 1	197	PP2C-like.				activation of MAPK activity (GO:0000187)|activation of MAPKKK activity (GO:0000185)|Fc-epsilon receptor signaling pathway (GO:0038095)|heart morphogenesis (GO:0003007)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|lung development (GO:0030324)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transforming growth factor beta receptor signaling pathway (GO:0007179)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome membrane (GO:0010008)|nucleus (GO:0005634)|protein complex (GO:0043234)	catalytic activity (GO:0003824)|enzyme activator activity (GO:0008047)|kinase activator activity (GO:0019209)			breast(1)|endometrium(2)|large_intestine(2)|lung(8)|urinary_tract(1)	14						ACAGTGGATGGGTTGCAGGTG	0.527																																						ENST00000216160.6																			0				breast(1)|endometrium(2)|large_intestine(2)|lung(8)|urinary_tract(1)	14						c.(589-591)gGg>gTg		TGF-beta activated kinase 1/MAP3K7 binding protein 1							160	122	135					22																	39814776		2203	4300	6503	SO:0001583	missense	10454				activation of MAPK activity|activation of MAPKKK activity|I-kappaB kinase/NF-kappaB cascade|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane	catalytic activity|protein binding	g.chr22:39814776G>T	U49928	CCDS13992.1, CCDS13993.1	22q13.1	2010-02-05	2010-02-05	2010-02-05	ENSG00000100324	ENSG00000100324			18157	protein-coding gene	gene with protein product	"TAK1-binding protein 1", "mitogen-activated protein kinase kinase kinase 7 interacting protein 1"	602615	"mitogen-activated protein kinase kinase kinase 7 interacting protein 1"	MAP3K7IP1		8638164, 10187861	Standard	NM_153497		Approved		uc003axt.3	Q15750	OTTHUMG00000151102	ENST00000216160.6:c.590G>T	22.37:g.39814776G>T	ENSP00000216160:p.Gly197Val					TAB1_ENST00000331454.3_Missense_Mutation_p.G197V	p.G197V	NM_006116.2	NP_006107.1	Q15750	TAB1_HUMAN			6	652	+			197			PP2C-like.		Q2PP09|Q8IZW2	Missense_Mutation	SNP	ENST00000216160.6	37	c.590G>T	CCDS13993.1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.261553	0.80358	.	.	ENSG00000100324	ENST00000216160;ENST00000331454	T;T	0.16743	2.32;2.32	4.89	4.89	0.63831	Protein phosphatase 2C-like (4);	0.146694	0.46758	D	0.000274	T	0.46521	0.1397	M	0.79693	2.465	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.91635	0.912;0.972;0.999	T	0.51052	-0.8754	10	0.72032	D	0.01	-14.7886	18.2498	0.89998	0.0:0.0:1.0:0.0	.	197;197;341	Q15750-2;Q15750;Q59FT7	.;TAB1_HUMAN;.	V	197	ENSP00000216160:G197V;ENSP00000333049:G197V	ENSP00000216160:G197V	G	+	2	0	TAB1	38144722	1.000000	0.71417	0.988000	0.46212	0.776000	0.43924	8.145000	0.89625	2.539000	0.85634	0.655000	0.94253	GGG		0.527	TAB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321313.1	NM_153497		12	39	1	0	0.000151284	1	0.000154908	12	39					T	39814776	G	T	39814776	3	4	94	1	0	0	0	0	1	0	0	0	15492	1232	43	5	612	5	TAB1	22	39814776	Missense_Mutation	SNP	G	TCGA-EJ-7782-01A-11D-2114-08	2290475	39814776	11489790	483	5302											
WBP2NL	164684	broad.mit.edu	37	chr22	42423017	42423017	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ccacctctcggatatggagcCccacctctcggatatggagc	8	8	10	15	2	2	0	0	0	2	0	4	4	2	4	5	4	2	0	5	4	2	2			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr22:42423017C>A	ENST00000328823.9	+	6	793	c.762C>A	c.(760-762)gcC>gcA	p.A254A	WBP2NL_ENST00000543212.1_Silent_p.A180A	NM_152613.2	NP_689826.2	Q6ICG8	WBP2L_HUMAN	WBP2 N-terminal like	254	10 X 7 AA tandem repeat of Y-G-X-P-P-X-G.|Gly-rich.				egg activation (GO:0007343)|male pronucleus assembly (GO:0035039)|meiotic nuclear division (GO:0007126)	perinuclear theca (GO:0033011)	WW domain binding (GO:0050699)			breast(2)|large_intestine(3)|lung(5)|ovary(3)|prostate(1)	14						GATATGGAGCCCCACCTCTCG	0.597																																						ENST00000328823.9																			0				breast(2)|large_intestine(3)|lung(5)|ovary(3)|prostate(1)	14						c.(760-762)gcC>gcA		WBP2 N-terminal like							134	154	147					22																	42423017		2203	4300	6503	SO:0001819	synonymous_variant	164684				egg activation|male pronucleus assembly|meiosis	perinuclear theca	WW domain binding	g.chr22:42423017C>A	BC022546	CCDS14029.1	22q13.2	2007-07-18			ENSG00000183066	ENSG00000183066			28389	protein-coding gene	gene with protein product	"postacrosomal sheath WW domain-binding protein"	610981				17289678	Standard	NM_152613		Approved	FLJ26145, MGC26816, PAWP	uc003bbt.3	Q6ICG8	OTTHUMG00000151270	ENST00000328823.9:c.762C>A	22.37:g.42423017C>A						WBP2NL_ENST00000543212.1_Silent_p.A180A	p.A254A	NM_152613.2	NP_689826.2	Q6ICG8	WBP2L_HUMAN			6	793	+			254			10 X 7 AA tandem repeat of Y-G-X-P-P-X-G.|Gly-rich.		A3KFF7|A8MSG5|B3KXX4|Q8TBF0|Q8TBF3	Silent	SNP	ENST00000328823.9	37	c.762C>A	CCDS14029.1																																																																																				0.597	WBP2NL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322037.1	NM_152613		9	187	1	0	0.000673444	1	0.00068547	9	187					A	42423017	C	A	42423017	2	1	94	1	0	0	0	0	0	0	0	1	17257	610	22	5		5	WBP2NL	22	42423017	Silent	SNP	C	TCGA-EJ-7782-01A-11D-2114-08	2608241	42423017	8881549	484	5303											
EFCAB6	64800	broad.mit.edu	37	chr22	44063044	44063044	+	Frame_Shift_Del	DEL	T	T	-																															ttgctgaagtcaagaaatcgTtttttgaatgccgggtcctg																										TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr22:44063044delT	ENST00000262726.7	-	17	2176	c.1923delA	c.(1921-1923)aaafs	p.K641fs	EFCAB6_ENST00000396231.2_Frame_Shift_Del_p.K489fs	NM_022785.3	NP_073622.2	Q5THR3	EFCB6_HUMAN	EF-hand calcium binding domain 6	641	EF-hand 7. {ECO:0000255|PROSITE- ProRule:PRU00448}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68		Ovarian(80;0.0247)|all_neural(38;0.025)				CAAGAAATCGTTTTTTGAATG	0.408																																						ENST00000262726.7																			0				breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68						c.(1921-1923)aafs		EF-hand calcium binding domain 6							204	198	200					22																	44063044		2203	4300	6503	SO:0001589	frameshift_variant	64800				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	calcium ion binding	g.chr22:44063044delT	Z82201	CCDS14049.1, CCDS14050.1	22q13.2	2013-01-10			ENSG00000186976	ENSG00000186976		"EF-hand domain containing"	24204	protein-coding gene	gene with protein product						11258795, 12612053	Standard	NM_022785		Approved	FLJ23588, DJBP, HSCBCIP1, KIAA1672, dJ185D5.1	uc003bdy.2	Q5THR3	OTTHUMG00000150522	ENST00000262726.7:c.1923delA	22.37:g.44063044delT	ENSP00000262726:p.Lys641fs					EFCAB6_ENST00000396231.2_Frame_Shift_Del_p.K489fs	p.K641fs	NM_022785.3	NP_073622.2	Q5THR3	EFCB6_HUMAN			17	2176	-		Ovarian(80;0.0247)|all_neural(38;0.025)	641			EF-hand 7.		A8K8P6|A8K8Y3|B0QYI4|B0QYI6|Q5U5T6|Q9BY88|Q9H5C4|Q9NSF5	Frame_Shift_Del	DEL	ENST00000262726.7	37	c.1923delA	CCDS14049.1																																																																																				0.408	EFCAB6-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353176.1	NM_022785		14	79						14	79	---	---	---	---	-	44063044	T	-	44063044	7	5	94	1	0	1	0	1	0	0	0	0	4939	1722	60	0	2646	0	EFCAB6	22	44063044	Frame_Shift_Del	DEL	T	TCGA-EJ-7782-01A-11D-2114-08	1640027	44063044	7241522	485	5304											
GTSE1	51512	broad.mit.edu	37	chr22	46725429	46725429	+	Frame_Shift_Del	DEL	A	A	-																															caaacactccagacatgaatAaaaatgtggccaaaccttca																										TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr22:46725429delA	ENST00000454366.1	+	11	2313	c.2101delA	c.(2101-2103)aaafs	p.K701fs		NM_016426.6	NP_057510	Q9NYZ3	GTSE1_HUMAN	G-2 and S-phase expressed 1	682					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|microtubule-based process (GO:0007017)	cytoplasmic microtubule (GO:0005881)|membrane (GO:0016020)				NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	27		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00462)		AGACATGAATAAAAATGTGGC	0.517																																					GBM(153;542 1915 12487 29016 50495)	ENST00000454366.1																			0				NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	27						c.(2101-2103)aafs		G-2 and S-phase expressed 1							93	83	86					22																	46725429		2203	4300	6503	SO:0001589	frameshift_variant	51512				DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G2 phase of mitotic cell cycle|microtubule-based process	cytoplasmic microtubule		g.chr22:46725429delA	AF223408	CCDS14074.2	22q13.2-q13.3	2008-06-10			ENSG00000075218	ENSG00000075218			13698	protein-coding gene	gene with protein product		607477				10974554, 10984615, 12750368	Standard	NM_016426		Approved	GTSE-1, B99	uc011aqy.2	Q9NYZ3	OTTHUMG00000150486	ENST00000454366.1:c.2101delA	22.37:g.46725429delA	ENSP00000415430:p.Lys701fs						p.K701fs	NM_016426.6	NP_057510.4	Q9NYZ3	GTSE1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.00462)	11	2313	+		Ovarian(80;0.00965)|all_neural(38;0.0416)	682					B0QYM3|Q20WK2|Q53GX5|Q5R3I6|Q6DHX4|Q9BRE0|Q9UGZ9|Q9Y557	Frame_Shift_Del	DEL	ENST00000454366.1	37	c.2101delA	CCDS14074.2																																																																																				0.517	GTSE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318360.2	NM_016426		23	59						23	59	---	---	---	---	-	46725429	A	-	46725429	7	5	94	1	0	1	0	1	0	0	0	0	6885	363	13	0	2139	0	GTSE1	22	46725429	Frame_Shift_Del	DEL	A	TCGA-EJ-7782-01A-11D-2114-08	2662385	46725429	4579137	486	5305											
ARSF	416	broad.mit.edu	37	chrX	3002368	3002368	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tgggtttgactactactatgGcatgccgttcactctcgttg	6	15	10	10	2	2	1	1	1	1	0	3	1	2	1	1	2	3	4	1	2	3	6			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chrX:3002368G>A	ENST00000381127.1	+	6	712	c.491G>A	c.(490-492)gGc>gAc	p.G164D	ARSF_ENST00000359361.2_Missense_Mutation_p.G164D|ARSF_ENST00000537104.1_Missense_Mutation_p.G164D	NM_001201538.1|NM_001201539.1	NP_001188467.1|NP_001188468.1	P54793	ARSF_HUMAN	arylsulfatase F	164					cellular protein metabolic process (GO:0044267)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	38		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				TACTACTATGGCATGCCGTTC	0.517																																						ENST00000381127.1																			0				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	38						c.(490-492)gGc>gAc		arylsulfatase F							150	115	127					X																	3002368		2203	4300	6503	SO:0001583	missense	416					extracellular region	arylsulfatase activity|metal ion binding	g.chrX:3002368G>A	X97868	CCDS14123.1	Xp22.3	2013-02-14			ENSG00000062096	ENSG00000062096		"Arylsulfatase family"	721	protein-coding gene	gene with protein product		300003				7720070	Standard	NM_004042		Approved		uc022brz.1	P54793	OTTHUMG00000021081	ENST00000381127.1:c.491G>A	X.37:g.3002368G>A	ENSP00000370519:p.Gly164Asp					ARSF_ENST00000359361.2_Missense_Mutation_p.G164D|ARSF_ENST00000537104.1_Missense_Mutation_p.G164D	p.G164D	NM_001201538.1|NM_001201539.1	NP_001188467.1|NP_001188468.1	P54793	ARSF_HUMAN			6	712	+		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)	164					Q8TCC5	Missense_Mutation	SNP	ENST00000381127.1	37	c.491G>A	CCDS14123.1	.	.	.	.	.	.	.	.	.	.	G	15.05	2.719512	0.48728	.	.	ENSG00000062096	ENST00000381127;ENST00000537104;ENST00000359361	D;D;D	0.95622	-3.76;-3.76;-3.76	3.44	3.44	0.39384	Alkaline phosphatase-like, alpha/beta/alpha (1);Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.124093	0.53938	U	0.000046	D	0.98520	0.9506	H	0.97940	4.11	0.58432	D	0.999999	D	0.76494	0.999	D	0.79108	0.992	D	0.99425	1.0934	10	0.72032	D	0.01	.	14.2993	0.66336	0.0:0.0:1.0:0.0	.	164	P54793	ARSF_HUMAN	D	164	ENSP00000370519:G164D;ENSP00000445594:G164D;ENSP00000352319:G164D	ENSP00000352319:G164D	G	+	2	0	ARSF	3012368	1.000000	0.71417	0.012000	0.15200	0.130000	0.20726	6.172000	0.71932	1.331000	0.45412	0.540000	0.68198	GGC		0.517	ARSF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055652.1			4	35	0	0	0	1	0	4	35					A	3002368	G	A	3002368	3	1	94	1	0	0	0	0	1	0	0	0	991	1203	42	3	509	3	ARSF	23	3002368	Missense_Mutation	SNP	G	TCGA-EJ-7782-01A-11D-2114-08		3002368	152268192	487	5306											
MXRA5	25878	broad.mit.edu	37	chrX	3228603	3228604	+	Frame_Shift_Ins	INS	-	-	G																															ccgtgatcttctcgctgatcINSgggtcgtggaagatgggttt																										TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chrX:3228603_3228604insG	ENST00000217939.6	-	7	7794_7795	c.7640_7641insC	c.(7639-7641)ccgfs	p.P2547fs		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	2547	Ig-like C2-type 10.					extracellular vesicular exosome (GO:0070062)				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				TCTCGCTGATCGGGTCGTGGAA	0.634																																						ENST00000217939.6																			0				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157						c.(7639-7641)catfs		matrix-remodelling associated 5																																				SO:0001589	frameshift_variant	25878					extracellular region		g.chrX:3228603_3228604insG	AF245505	CCDS14124.1	Xp22.33	2013-01-29			ENSG00000101825	ENSG00000101825		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	7539	protein-coding gene	gene with protein product	"adlican"					12101425	Standard	NM_015419		Approved	DKFZp564I1922	uc004crg.4	Q9NR99	OTTHUMG00000021083	ENST00000217939.6:c.7641dupC	X.37:g.3228606_3228606dupG	ENSP00000217939:p.Pro2547fs						p.H2547fs	NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN			7	7794_7795	-		all_lung(23;0.00031)|Lung NSC(23;0.000946)	2547			Ig-like C2-type 10.		Q6P1M7|Q9Y3Y8	Frame_Shift_Ins	INS	ENST00000217939.6	37	c.7640_7641insC	CCDS14124.1																																																																																				0.634	MXRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055655.2	NM_015419		11	5						11	5	---	---	---	---	G	3228604	-	G	3228603	7	5	94	1	0	1	1	0	0	0	0	0	10003	871	31	0	849	0	MXRA5	23	3228603	Frame_Shift_Ins	INS	-	TCGA-EJ-7782-01A-11D-2114-08	226235	3228603	152041957	488	5307											
RAB9A	9367	broad.mit.edu	37	chrX	13727114	13727114	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tacagaggttctgactgctgCctgcttacttttagtgtcga	7	15	10	9	1	1	2	0	1	1	1	2	3	1	2	1	1	5	3	1	1	3	5			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chrX:13727114C>T	ENST00000464506.1	+	3	528	c.249C>T	c.(247-249)tgC>tgT	p.C83C	RAB9A_ENST00000243325.5_3'UTR	NM_001195328.1|NM_004251.4	NP_001182257.1|NP_004242.1	P51151	RAB9A_HUMAN	RAB9A, member RAS oncogene family	83					GTP catabolic process (GO:0006184)|positive regulation of exocytosis (GO:0045921)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|late endosome (GO:0005770)|lysosome (GO:0005764)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)			endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)	7						CTGACTGCTGCCTGCTTACTT	0.438																																						ENST00000464506.1																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)	7						c.(247-249)tgC>tgT		RAB9A, member RAS oncogene family							144	137	140					X																	13727114		2203	4300	6503	SO:0001819	synonymous_variant	9367				protein transport|small GTPase mediated signal transduction	endoplasmic reticulum membrane|Golgi membrane|late endosome|lysosome|plasma membrane	GDP binding|GTP binding|GTPase activity|protein binding	g.chrX:13727114C>T	U44103	CCDS14156.1	Xp22.2	2010-04-19	2007-01-15	2007-01-15	ENSG00000123595	ENSG00000123595		"RAB, member RAS oncogene"	9792	protein-coding gene	gene with protein product		300284	"RAB9, member RAS oncogene family"	RAB9		9126495	Standard	NM_004251		Approved		uc010neh.3	P51151	OTTHUMG00000021156	ENST00000464506.1:c.249C>T	X.37:g.13727114C>T						RAB9A_ENST00000243325.5_3'UTR	p.C83C	NM_001195328.1|NM_004251.4	NP_001182257.1|NP_004242.1	P51151	RAB9A_HUMAN			3	528	+			83					A8K390|Q6ICN1	Silent	SNP	ENST00000464506.1	37	c.249C>T	CCDS14156.1																																																																																				0.438	RAB9A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055802.1	NM_004251		15	80	0	0	0	1	0	15	80					T	13727114	C	T	13727114	2	4	94	1	0	0	0	0	0	0	0	1	12958	747	26	3		3	RAB9A	23	13727114	Silent	SNP	C	TCGA-EJ-7782-01A-11D-2114-08	10498511	13727114	141543446	489	5308											
GPR64	10149	broad.mit.edu	37	chrX	19037719	19037719	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcatgtttgttacataccaCtgaagcttttccaactcttc	10	15	5	11	0	1	1	0	1	1	0	3	1	2	1	2	0	5	4	2	0	4	6			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chrX:19037719C>T	ENST00000379869.3	-	15	871	c.708G>A	c.(706-708)caG>caA	p.Q236Q	GPR64_ENST00000357991.3_Silent_p.Q233Q|GPR64_ENST00000360279.4_Silent_p.Q214Q|GPR64_ENST00000379876.1_Silent_p.Q212Q|GPR64_ENST00000357544.3_Silent_p.Q206Q|GPR64_ENST00000356606.4_Silent_p.Q222Q|GPR64_ENST00000379873.2_Silent_p.Q236Q|GPR64_ENST00000379878.3_Silent_p.Q220Q|GPR64_ENST00000340581.3_Silent_p.Q206Q|GPR64_ENST00000354791.3_Silent_p.Q220Q	NM_001079858.2|NM_005756.3	NP_001073327.1|NP_005747.2	Q8IZP9	GPR64_HUMAN	G protein-coupled receptor 64	236					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)|spermatogenesis (GO:0007283)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)			breast(5)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(18)|stomach(1)|urinary_tract(1)	42	Hepatocellular(33;0.183)					TTACATACCACTGAAGCTTTT	0.398																																						ENST00000379878.3																			0				breast(5)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(18)|stomach(1)|urinary_tract(1)	42						c.(658-660)caG>caA		G protein-coupled receptor 64							89	82	84					X																	19037719		2203	4300	6503	SO:0001819	synonymous_variant	10149				neuropeptide signaling pathway|spermatogenesis	cytoplasm|integral to plasma membrane	G-protein coupled receptor activity	g.chrX:19037719C>T	X81892	CCDS14191.1, CCDS43921.1, CCDS43922.1, CCDS43923.1, CCDS55376.1, CCDS55377.1, CCDS55378.1, CCDS55379.1	Xp22.13	2014-08-08			ENSG00000173698	ENSG00000173698		"-", "GPCR / Class B : Orphans"	4516	protein-coding gene	gene with protein product	"epididymal protein 6"	300572				9739419, 9150425	Standard	NM_005756		Approved	HE6, TM7LN2, EDDM6	uc004cyx.3	Q8IZP9	OTTHUMG00000021223	ENST00000379869.3:c.708G>A	X.37:g.19037719C>T						GPR64_ENST00000357991.3_Silent_p.Q233Q|GPR64_ENST00000357544.3_Silent_p.Q206Q|GPR64_ENST00000360279.4_Silent_p.Q214Q|GPR64_ENST00000379873.2_Silent_p.Q236Q|GPR64_ENST00000379876.1_Silent_p.Q212Q|GPR64_ENST00000356606.4_Silent_p.Q222Q|GPR64_ENST00000379869.3_Silent_p.Q236Q|GPR64_ENST00000354791.3_Silent_p.Q220Q|GPR64_ENST00000340581.3_Silent_p.Q206Q	p.Q220Q	NM_001184833.1	NP_001171762.1	Q8IZP9	GPR64_HUMAN			14	901	-	Hepatocellular(33;0.183)		236					B1AWB3|B1AWB4|B1AWB6|B1AWB7|O00406|Q14CE0|Q8IWT2|Q8IZE4|Q8IZE5|Q8IZE6|Q8IZE7|Q8IZP3|Q8IZP4	Silent	SNP	ENST00000379869.3	37	c.660G>A	CCDS43923.1																																																																																				0.398	GPR64-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000055970.2			8	15	0	0	0	1	0	8	15					T	19037719	C	T	19037719	2	4	94	1	0	0	0	0	0	0	0	1	6705	564	20	3		3	GPR64	23	19037719	Silent	SNP	C	TCGA-EJ-7782-01A-11D-2114-08	5310605	19037719	136232841	490	5309											
APOO	79135	broad.mit.edu	37	chrX	23876823	23876823	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctaatcccatgaaaccaggcGgatacactagcttctttatt	12	12	6	11	1	1	1	0	1	1	0	2	2	2	2	2	2	3	1	2	2	5	7	rs369973145		TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chrX:23876823G>A	ENST00000379226.4	-	6	647	c.416C>T	c.(415-417)cCg>cTg	p.P139L	APOO_ENST00000379220.3_Missense_Mutation_p.P120L	NM_024122.4	NP_077027.1	Q9BUR5	APOO_HUMAN	apolipoprotein O	139					lipid transport (GO:0006869)	extracellular space (GO:0005615)|high-density lipoprotein particle (GO:0034364)|integral component of membrane (GO:0016021)|low-density lipoprotein particle (GO:0034362)|mitochondrion (GO:0005739)|very-low-density lipoprotein particle (GO:0034361)				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(5)|prostate(1)	9						GAAACCAGGCGGATACACTAG	0.403																																						ENST00000379226.4																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(5)|prostate(1)	9						c.(415-417)cCg>cTg		apolipoprotein O		G	LEU/PRO	0,3835		0,0,1632,571	154	125	135		416	5.7	1	X		135	1,6727		0,1,2427,1872	no	missense	APOO	NM_024122.4	98	0,1,4059,2443	AA,AG,GG,G		0.0149,0.0,0.0095	probably-damaging	139/199	23876823	1,10562	2203	4300	6503	SO:0001583	missense	79135				lipid transport	high-density lipoprotein particle|integral to membrane|low-density lipoprotein particle|very-low-density lipoprotein particle		g.chrX:23876823G>A	BC016814	CCDS14208.1	Xp22.11	2013-01-24	2007-01-17	2007-01-17	ENSG00000184831	ENSG00000184831		"Apolipoproteins"	28727	protein-coding gene	gene with protein product		300753	"family with sequence similarity 121B"	FAM121B		12975309, 16956892	Standard	NR_026545		Approved	MGC4825, My025	uc004dax.3	Q9BUR5	OTTHUMG00000021259	ENST00000379226.4:c.416C>T	X.37:g.23876823G>A	ENSP00000368528:p.Pro139Leu					APOO_ENST00000379220.3_Missense_Mutation_p.P120L	p.P139L	NM_024122.4	NP_077027.1	Q9BUR5	APOO_HUMAN			6	647	-			139					B2R4K9|Q9H3J9	Missense_Mutation	SNP	ENST00000379226.4	37	c.416C>T	CCDS14208.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.147046	0.77888	0.0	1.49E-4	ENSG00000184831	ENST00000379226;ENST00000439528;ENST00000379220	T;T;T	0.15834	2.39;2.39;2.39	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	T	0.44664	0.1304	M	0.80332	2.49	0.80722	D	1	D	0.89917	1.0	D	0.71184	0.972	T	0.46091	-0.9216	10	0.87932	D	0	-9.9969	15.5096	0.75769	0.0:0.0:1.0:0.0	.	139	Q9BUR5	APOO_HUMAN	L	139;119;120	ENSP00000368528:P139L;ENSP00000402557:P119L;ENSP00000368522:P120L	ENSP00000368522:P120L	P	-	2	0	APOO	23786744	1.000000	0.71417	0.985000	0.45067	0.860000	0.49131	6.139000	0.71728	2.371000	0.80710	0.506000	0.49869	CCG		0.403	APOO-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056074.1	NM_024122		13	4	0	0	0	1	0	13	4					A	23876823	G	A	23876823	3	1	94	1	0	0	0	0	1	0	0	0	813	1116	39	2	192	2	APOO	23	23876823	Missense_Mutation	SNP	G	TCGA-EJ-7782-01A-11D-2114-08	4839104	23876823	131393737	491	5310											
PRRG1	5638	broad.mit.edu	37	chrX	37312611	37312611	+	Frame_Shift_Del	DEL	C	C	-																															accttaatattatcaccccaCcccccccaccagatgaagtg																										TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chrX:37312611delC	ENST00000542554.1	+	5	666	c.394delC	c.(394-396)cccfs	p.P135fs	TM4SF2_ENST00000465127.1_Intron|PRRG1_ENST00000378628.4_Frame_Shift_Del_p.P135fs|PRRG1_ENST00000449135.2_Frame_Shift_Del_p.P135fs|PRRG1_ENST00000491253.1_3'UTR|PRRG1_ENST00000543642.1_Frame_Shift_Del_p.P135fs	NM_001173489.1	NP_001166960.1	O14668	TMG1_HUMAN	proline rich Gla (G-carboxyglutamic acid) 1	135	Poly-Pro.					extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.P135fs*3(1)|p.P134fs*19(1)		breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	15						TATCACCCCACCCCCCCCACC	0.488																																						ENST00000542554.1																			2	Deletion - Frameshift(1)|Insertion - Frameshift(1)	p.P135fs*3(1)|p.P134fs*19(1)	ovary(2)	breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	15						c.(394-396)ccfs		proline rich Gla (G-carboxyglutamic acid) 1							117	111	113					X																	37312611		2202	4300	6502	SO:0001589	frameshift_variant	5638					extracellular region|integral to plasma membrane	calcium ion binding	g.chrX:37312611delC	AF009242	CCDS14239.1, CCDS55397.1	Xp21.1	2010-08-13	2004-05-27		ENSG00000130962	ENSG00000130962			9469	protein-coding gene	gene with protein product		604428	"proline-rich Gla (G-carboxyglutamic acid) polypeptide 1"			9256434	Standard	NM_000950		Approved	PRGP1	uc004ddo.3	O14668	OTTHUMG00000021360	ENST00000542554.1:c.394delC	X.37:g.37312611delC	ENSP00000444278:p.Pro135fs					PRRG1_ENST00000543642.1_Frame_Shift_Del_p.P135fs|PRRG1_ENST00000449135.2_Frame_Shift_Del_p.P135fs|PRRG1_ENST00000378628.4_Frame_Shift_Del_p.P135fs|TM4SF2_ENST00000465127.1_Intron|PRRG1_ENST00000491253.1_3'UTR	p.P135fs	NM_001173489.1	NP_001166960.1	O14668	TMG1_HUMAN			5	666	+			135			Poly-Pro.		B2R7A3|C9JXL7|D3DWA9|Q5JT66	Frame_Shift_Del	DEL	ENST00000542554.1	37	c.394delC	CCDS14239.1																																																																																				0.488	PRRG1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056228.2	NM_000950		9	58						9	58	---	---	---	---	-	37312611	C	-	37312611	7	5	94	1	0	1	0	1	0	0	0	0	12605	507	18	0	486	0	PRRG1	23	37312611	Frame_Shift_Del	DEL	C	TCGA-EJ-7782-01A-11D-2114-08	13435788	37312611	117957949	492	5311											
SRPX	8406	broad.mit.edu	37	chrX	38020284	38020284	+	Frame_Shift_Del	DEL	G	G	-																															cttctggaaagttggagcctGgggggaggccttttagaatg																										TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chrX:38020284delG	ENST00000378533.3	-	6	783	c.677delC	c.(676-678)ccafs	p.P226fs	TM4SF2_ENST00000465127.1_Intron|SRPX_ENST00000343800.6_Frame_Shift_Del_p.P213fs|SRPX_ENST00000538295.1_Frame_Shift_Del_p.P226fs|SRPX_ENST00000479015.1_5'Flank|SRPX_ENST00000544439.1_Frame_Shift_Del_p.P206fs|SRPX_ENST00000432886.2_Frame_Shift_Del_p.P167fs	NM_006307.4	NP_006298.1	P78539	SRPX_HUMAN	sushi-repeat containing protein, X-linked	226	HYR. {ECO:0000255|PROSITE- ProRule:PRU00113}.				autophagy (GO:0006914)|cell adhesion (GO:0007155)|negative regulation of cell proliferation involved in contact inhibition (GO:0060244)|phagolysosome assembly (GO:0001845)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|response to endoplasmic reticulum stress (GO:0034976)	autophagic vacuole (GO:0005776)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)				autonomic_ganglia(1)|breast(2)|endometrium(5)|large_intestine(5)|lung(10)|prostate(2)	25						GTTGGAGCCTGGGGGGAGGCC	0.433																																						ENST00000378533.3																			0				autonomic_ganglia(1)|breast(2)|endometrium(5)|large_intestine(5)|lung(10)|prostate(2)	25						c.(676-678)cafs		sushi-repeat containing protein, X-linked							75	69	71					X																	38020284		2202	4299	6501	SO:0001589	frameshift_variant	8406				cell adhesion	cell surface|membrane		g.chrX:38020284delG	U78093	CCDS14245.1, CCDS55400.1, CCDS55401.1, CCDS55402.1	Xp21.1	2011-01-25	2011-01-25		ENSG00000101955	ENSG00000101955			11309	protein-coding gene	gene with protein product		300187	"sushi-repeat-containing protein, X chromosome", "sushi-repeat-containing protein, X-linked"			8634708, 8634709	Standard	NM_006307		Approved	ETX1	uc004ddy.2	P78539	OTTHUMG00000021362	ENST00000378533.3:c.677delC	X.37:g.38020284delG	ENSP00000367794:p.Pro226fs					SRPX_ENST00000432886.2_Frame_Shift_Del_p.P167fs|SRPX_ENST00000538295.1_Frame_Shift_Del_p.P226fs|TM4SF2_ENST00000465127.1_Intron|SRPX_ENST00000343800.6_Frame_Shift_Del_p.P213fs|SRPX_ENST00000544439.1_Frame_Shift_Del_p.P206fs	p.P226fs	NM_006307.4	NP_006298.1	P78539	SRPX_HUMAN			6	783	-			226			HYR.		A8K065|B3KWP8|B4DDB8|B4DQH5|F5H4D7|G3V1L0|Q4VX66|Q99652|Q99913	Frame_Shift_Del	DEL	ENST00000378533.3	37	c.677delC	CCDS14245.1																																																																																				0.433	SRPX-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056243.1	NM_006307		30	18						30	18	---	---	---	---	-	38020284	G	-	38020284	7	5	94	1	0	1	0	1	0	0	0	0	15163	1348	47	0	737	0	SRPX	23	38020284	Frame_Shift_Del	DEL	G	TCGA-EJ-7782-01A-11D-2114-08	707673	38020284	117250276	493	5312											
PHF16	9767	broad.mit.edu	37	chrX	46887491	46887491	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgttctgtgataagtgtaacGtctgtgtgcatcaggttagt	8	16	12	5	1	3	1	1	1	2	0	3	1	3	1	0	1	2	4	0	1	3	4			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chrX:46887491G>A	ENST00000218343.4	+	6	971	c.673G>A	c.(673-675)Gtc>Atc	p.V225I	PHF16_ENST00000397189.1_Missense_Mutation_p.V225I	NM_014735.3	NP_055550.1														NS(2)|endometrium(8)|kidney(4)|large_intestine(5)|lung(12)|upper_aerodigestive_tract(2)	33						TAAGTGTAACGTCTGTGTGCA	0.488													G|||	1	0.000264901	8e-04	0	3775	,	,		15583	0		0	False		,,,				2504	0					ENST00000218343.4																			0				NS(2)|endometrium(8)|kidney(4)|large_intestine(5)|lung(12)|upper_aerodigestive_tract(2)	33						c.(673-675)Gtc>Atc									362	217	267					X																	46887491		2203	4300	6503	SO:0001583	missense	0				histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation	histone acetyltransferase complex	zinc ion binding	g.chrX:46887491G>A																												ENST00000218343.4:c.673G>A	X.37:g.46887491G>A	ENSP00000218343:p.Val225Ile					PHF16_ENST00000397189.1_Missense_Mutation_p.V225I	p.V225I	NM_014735.3	NP_055550.1	Q92613	JADE3_HUMAN			6	971	+			225						Missense_Mutation	SNP	ENST00000218343.4	37	c.673G>A	CCDS14271.1	.	.	.	.	.	.	.	.	.	.	G	5.002	0.186131	0.09495	.	.	ENSG00000102221	ENST00000397189;ENST00000218343	D;D	0.87491	-2.26;-2.26	5.78	0.725	0.18242	Zinc finger, PHD-finger (2);Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, PHD-type, conserved site (1);Zinc finger, PHD-type (1);Zinc finger, FYVE/PHD-type (1);	0.092186	0.64402	N	0.000001	T	0.68192	0.2974	N	0.04148	-0.265	0.27040	N	0.964034	B	0.06786	0.001	B	0.10450	0.005	T	0.53851	-0.8380	9	.	.	.	.	9.5355	0.39220	0.745:0.0:0.255:0.0	.	225	Q92613	JADE3_HUMAN	I	225	ENSP00000380373:V225I;ENSP00000218343:V225I	.	V	+	1	0	PHF16	46772435	1.000000	0.71417	0.996000	0.52242	0.994000	0.84299	1.012000	0.29924	-0.227000	0.09884	-0.198000	0.12761	GTC		0.488	PHF16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056376.1			21	4	0	0	0	1	0	21	4					A	46887491	G	A	46887491	3	1	94	1	0	0	0	0	1	0	0	0	11827	1145	40	1	691	1	PHF16	23	46887491	Missense_Mutation	SNP	G	TCGA-EJ-7782-01A-11D-2114-08	8867207	46887491	108383069	494	5313											
ZNF41	7592	broad.mit.edu	37	chrX	47315344	47315344	+	Frame_Shift_Del	DEL	C	C	-																															acagctctgatgtggggcttCcccctccagcatccatggcc																										TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chrX:47315344delC	ENST00000377065.4	-	4	910	c.271delG	c.(271-273)gaafs	p.E91fs	ZNF41_ENST00000313116.7_Frame_Shift_Del_p.E91fs|ZNF41_ENST00000465311.1_5'UTR|ZNF41_ENST00000397050.2_Frame_Shift_Del_p.E101fs	NM_153380.2	NP_700359.1	P51814	ZNF41_HUMAN	zinc finger protein 41	133	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|upper_aerodigestive_tract(2)	24		all_lung(315;0.000129)				TGTGGGGCTTCCCCCTCCAGC	0.532																																						ENST00000377065.4																			0				breast(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|upper_aerodigestive_tract(2)	24						c.(271-273)aafs		zinc finger protein 41							107	87	93					X																	47315344		2203	4300	6503	SO:0001589	frameshift_variant	7592					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chrX:47315344delC	X60155	CCDS14279.1	Xp11.23	2013-01-08			ENSG00000147124	ENSG00000147124		"Zinc fingers, C2H2-type", "-"	13107	protein-coding gene	gene with protein product		314995				2037297	Standard	NM_007130		Approved	MGC8941, MRX89	uc004dhy.4	P51814	OTTHUMG00000021448	ENST00000377065.4:c.271delG	X.37:g.47315344delC	ENSP00000366265:p.Glu91fs					ZNF41_ENST00000313116.7_Frame_Shift_Del_p.E91fs|ZNF41_ENST00000465311.1_5'UTR|ZNF41_ENST00000397050.2_Frame_Shift_Del_p.E101fs	p.E91fs	NM_153380.2	NP_700359.1	P51814	ZNF41_HUMAN			4	910	-		all_lung(315;0.000129)	133			KRAB.		A8K1V6|B4DH01|Q96LE8|Q9UMC4|Q9UMV5|Q9UMV6|Q9UMV7|Q9UMV8|Q9UMV9|Q9UMW0|Q9UMW1	Frame_Shift_Del	DEL	ENST00000377065.4	37	c.271delG	CCDS14279.1																																																																																				0.532	ZNF41-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056429.1	NM_153380		15	5						15	5	---	---	---	---	-	47315344	C	-	47315344	7	5	94	1	0	1	0	1	0	0	0	0	17886	864	30	0	2076	0	ZNF41	23	47315344	Frame_Shift_Del	DEL	C	TCGA-EJ-7782-01A-11D-2114-08	427853	47315344	107955216	495	5314											
MAGED1	9500	broad.mit.edu	37	chrX	51639838	51639838	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ggccaaaccccattgtctggCccggccctgttgtctggccg	4	9	12	16	2	2	0	0	0	2	0	2	0	2	0	6	4	1	1	6	4	1	2			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chrX:51639838C>T	ENST00000375722.1	+	4	1339	c.1087C>T	c.(1087-1089)Ccc>Tcc	p.P363S	MAGED1_ENST00000494718.1_3'UTR|MAGED1_ENST00000326587.7_Missense_Mutation_p.P363S|MAGED1_ENST00000375695.2_Missense_Mutation_p.P419S|MAGED1_ENST00000375772.3_Missense_Mutation_p.P363S			Q9Y5V3	MAGD1_HUMAN	melanoma antigen family D, 1	363	22 X 6 AA tandem repeats of W-[PQ]-X-P-X- X.|Pro-rich.				apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|circadian regulation of gene expression (GO:0032922)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of apoptotic process (GO:0042981)|regulation of circadian rhythm (GO:0042752)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	transcription coactivator activity (GO:0003713)			breast(1)|endometrium(4)|large_intestine(10)|lung(13)|ovary(3)|upper_aerodigestive_tract(1)	32	Ovarian(276;0.236)					CATTGTCTGGCCCGGCCCTGT	0.617										Multiple Myeloma(10;0.10)																												ENST00000375695.2																			0				breast(1)|endometrium(4)|large_intestine(10)|lung(13)|ovary(3)|upper_aerodigestive_tract(1)	32						c.(1255-1257)Ccc>Tcc		melanoma antigen family D, 1							36	35	35					X																	51639838		2203	4300	6503	SO:0001583	missense	9500				apoptosis|induction of apoptosis by extracellular signals|negative regulation of epithelial cell proliferation|nerve growth factor receptor signaling pathway|regulation of transcription, DNA-dependent	cytoplasm|plasma membrane|protein complex	protein binding	g.chrX:51639838C>T	AF124440	CCDS14337.1, CCDS35279.1	Xp11.23	2008-08-01			ENSG00000179222	ENSG00000179222			6813	protein-coding gene	gene with protein product		300224				10409427	Standard	NM_006986		Approved	NRAGE, DLXIN-1	uc004dpn.3	Q9Y5V3	OTTHUMG00000021540	ENST00000375722.1:c.1087C>T	X.37:g.51639838C>T	ENSP00000364874:p.Pro363Ser	Multiple Myeloma(10;0.10)				MAGED1_ENST00000326587.7_Missense_Mutation_p.P363S|MAGED1_ENST00000494718.1_3'UTR|MAGED1_ENST00000375722.1_Missense_Mutation_p.P363S|MAGED1_ENST00000375772.3_Missense_Mutation_p.P363S	p.P419S	NM_001005333.1	NP_001005333.1	Q9Y5V3	MAGD1_HUMAN			5	1408	+	Ovarian(276;0.236)		363			22 X 6 AA tandem repeats of W-[PQ]-X-P-X- X.|Pro-rich.		Q5VSH6|Q8IZ84|Q8WY92|Q9H352|Q9HBT4|Q9UF36	Missense_Mutation	SNP	ENST00000375722.1	37	c.1255C>T	CCDS14337.1	.	.	.	.	.	.	.	.	.	.	C	13.60	2.285225	0.40394	.	.	ENSG00000179222	ENST00000375772;ENST00000375722;ENST00000326587;ENST00000375695	T;T;T;T	0.52295	0.67;0.67;0.67;0.67	3.84	2.97	0.34412	.	0.000000	0.34531	N	0.003882	T	0.51007	0.1649	L	0.38175	1.15	0.30581	N	0.762541	D;D	0.89917	1.0;0.999	D;D	0.87578	0.998;0.941	T	0.48139	-0.9061	10	0.13108	T	0.6	.	9.0221	0.36206	0.0:0.8798:0.0:0.1202	.	419;363	Q9Y5V3-2;Q9Y5V3	.;MAGD1_HUMAN	S	363;363;363;419	ENSP00000364927:P363S;ENSP00000364874:P363S;ENSP00000325333:P363S;ENSP00000364847:P419S	ENSP00000325333:P363S	P	+	1	0	MAGED1	51656578	0.999000	0.42202	1.000000	0.80357	0.803000	0.45373	2.698000	0.47068	0.737000	0.32582	0.284000	0.19432	CCC		0.617	MAGED1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056593.1	NM_001005332		9	11	0	0	0	1	0	9	11					T	51639838	C	T	51639838	3	4	94	1	0	0	0	0	1	0	0	0	9183	739	26	3	1269	3	MAGED1	23	51639838	Missense_Mutation	SNP	C	TCGA-EJ-7782-01A-11D-2114-08	4324494	51639838	103630722	496	5315											
STARD8	9754	broad.mit.edu	37	chrX	67937675	67937675	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	acgttcctggggaccacaaaCcaggcacattccctcgctcc	9	7	8	17	2	0	0	0	0	0	0	4	1	3	1	5	3	1	3	5	3	1	2			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chrX:67937675C>T	ENST00000252336.6	+	5	1051	c.679C>T	c.(679-681)Cca>Tca	p.P227S	STARD8_ENST00000374599.3_Missense_Mutation_p.P307S|STARD8_ENST00000374597.3_Missense_Mutation_p.P227S	NM_014725.4	NP_055540.2	Q92502	STAR8_HUMAN	StAR-related lipid transfer (START) domain containing 8	227					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell junction (GO:0030054)|cytosol (GO:0005829)	GTPase activator activity (GO:0005096)|lipid binding (GO:0008289)			NS(2)|breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	50						GGACCACAAACCAGGCACATT	0.647																																						ENST00000252336.6																			0				NS(2)|breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	50						c.(679-681)Cca>Tca		StAR-related lipid transfer (START) domain containing 8							56	36	43					X																	67937675		2203	4300	6503	SO:0001583	missense	9754				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion	GTPase activator activity	g.chrX:67937675C>T	D80011	CCDS14390.1, CCDS48134.1	Xq13.1	2011-09-13	2007-08-16		ENSG00000130052	ENSG00000130052		"Rho GTPase activating proteins", "StAR-related lipid transfer (START) domain containing"	19161	protein-coding gene	gene with protein product		300689	"START domain containing 8"			8724849	Standard	NM_001142504		Approved	KIAA0189, ARHGAP38	uc004dxb.3	Q92502	OTTHUMG00000021748	ENST00000252336.6:c.679C>T	X.37:g.67937675C>T	ENSP00000252336:p.Pro227Ser					STARD8_ENST00000374597.3_Missense_Mutation_p.P227S|STARD8_ENST00000374599.3_Missense_Mutation_p.P307S	p.P227S	NM_014725.4	NP_055540.2	Q92502	STAR8_HUMAN			5	1051	+			227					A8K6T2|D3DVT9|Q5JST0|Q68DG7	Missense_Mutation	SNP	ENST00000252336.6	37	c.679C>T	CCDS14390.1	.	.	.	.	.	.	.	.	.	.	c	18.11	3.551762	0.65311	.	.	ENSG00000130052	ENST00000252336;ENST00000374599;ENST00000374597	T;T;T	0.76709	-1.04;-0.85;-1.04	4.4	3.53	0.40419	.	0.000000	0.85682	D	0.000000	D	0.86176	0.5870	M	0.81802	2.56	0.33595	D	0.601614	D;D	0.76494	0.999;0.999	D;D	0.74023	0.982;0.96	D	0.89287	0.3616	10	0.87932	D	0	.	9.2596	0.37603	0.0:0.8909:0.0:0.1091	.	307;227	Q92502-2;Q92502	.;STAR8_HUMAN	S	227;307;227	ENSP00000252336:P227S;ENSP00000363727:P307S;ENSP00000363725:P227S	ENSP00000252336:P227S	P	+	1	0	STARD8	67854400	1.000000	0.71417	0.990000	0.47175	0.888000	0.51559	7.121000	0.77160	0.866000	0.35629	0.597000	0.82753	CCA		0.647	STARD8-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057026.2	NM_014725		3	11	0	0	0	1	0	3	11					T	67937675	C	T	67937675	3	4	94	1	0	0	0	0	1	0	0	0	15262	507	18	3	941	3	STARD8	23	67937675	Missense_Mutation	SNP	C	TCGA-EJ-7782-01A-11D-2114-08	16297837	67937675	87332885	497	5316											
NONO	4841	broad.mit.edu	37	chrX	70516423	70516423	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctttcttccagatttcctcGtcctgtgactgtggagccca	5	15	8	13	1	2	2	0	1	2	1	6	3	5	3	4	1	1	0	4	1	0	3			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chrX:70516423G>A	ENST00000276079.8	+	6	864	c.659G>A	c.(658-660)cGt>cAt	p.R220H	NONO_ENST00000373856.3_Missense_Mutation_p.R220H|NONO_ENST00000535149.1_Missense_Mutation_p.R131H|NONO_ENST00000373841.1_Missense_Mutation_p.R220H|NONO_ENST00000490044.1_3'UTR	NM_007363.4	NP_031389.3	Q15233	NONO_HUMAN	non-POU domain containing, octamer-binding	220	DBHS.|RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				circadian rhythm (GO:0007623)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|mRNA processing (GO:0006397)|negative regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903377)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of circadian rhythm (GO:0042752)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	membrane (GO:0016020)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)|paraspeckles (GO:0042382)	core promoter binding (GO:0001047)|identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)		NONO/TFE3(2)	endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	19	Renal(35;0.156)					AGATTTCCTCGTCCTGTGACT	0.438			T	TFE3	papillary renal cancer																																	ENST00000535149.1				Dom	yes		X	Xq13.1	4841	T	"non-POU domain containing, octamer-binding"			E	TFE3		papillary renal cancer	NONO/TFE3(2)	0				endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	19						c.(391-393)cGt>cAt		non-POU domain containing, octamer-binding							105	69	82					X																	70516423		2202	4300	6502	SO:0001583	missense	4841				DNA recombination|DNA repair|mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|transcription, DNA-dependent	nuclear matrix|paraspeckles	DNA binding|identical protein binding|nucleotide binding|RNA binding	g.chrX:70516423G>A	L14599	CCDS14410.1, CCDS55445.1	Xq13.1	2014-06-13	2002-01-14		ENSG00000147140	ENSG00000147140		"RNA binding motif (RRM) containing"	7871	protein-coding gene	gene with protein product	"Nuclear RNA-binding protein, 54-kD", "non-Pou domain-containing octamer (ATGCAAAT) binding protein", "protein phosphatase 1, regulatory subunit 114"	300084	"non-POU-domain-containing, octamer-binding"			8371983, 9360842	Standard	NM_007363		Approved	NRB54, NMT55, P54NRB, P54, PPP1R114	uc004dzp.3	Q15233	OTTHUMG00000021798	ENST00000276079.8:c.659G>A	X.37:g.70516423G>A	ENSP00000276079:p.Arg220His					NONO_ENST00000373841.1_Missense_Mutation_p.R220H|NONO_ENST00000373856.3_Missense_Mutation_p.R220H|NONO_ENST00000490044.1_3'UTR|NONO_ENST00000276079.8_Missense_Mutation_p.R220H	p.R131H	NM_001145410.1	NP_001138882.1	Q15233	NONO_HUMAN			4	1035	+	Renal(35;0.156)		220			DBHS.|RRM 1.		B7Z4C2|D3DVV4|F5GYZ3|O00201|P30807|Q12786|Q9BQC5	Missense_Mutation	SNP	ENST00000276079.8	37	c.392G>A	CCDS14410.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	17.88|17.88	3.498241|3.498241	0.64186|0.64186	.|.	.|.	ENSG00000147140|ENSG00000147140	ENST00000535149;ENST00000276079;ENST00000373856;ENST00000373841|ENST00000418921	T;T;T;T|.	0.23147|.	1.93;1.92;1.92;1.92|.	4.57|4.57	4.57|4.57	0.56435|0.56435	RNA recognition motif domain (2);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.79203|0.79203	0.4406|0.4406	M|M	0.84773|0.84773	2.715|2.715	0.80722|0.80722	D|D	1|1	B|.	0.18461|.	0.028|.	B|.	0.11329|.	0.006|.	T|T	0.82323|0.82323	-0.0514|-0.0514	10|5	0.87932|.	D|.	0|.	-9.4315|-9.4315	16.9552|16.9552	0.86257|0.86257	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	220|.	Q15233|.	NONO_HUMAN|.	H|I	131;220;220;220|82	ENSP00000441364:R131H;ENSP00000276079:R220H;ENSP00000362963:R220H;ENSP00000362947:R220H|.	ENSP00000276079:R220H|.	R|V	+|+	2|1	0|0	NONO|NONO	70433148|70433148	1.000000|1.000000	0.71417|0.71417	0.948000|0.948000	0.38648|0.38648	0.984000|0.984000	0.73092|0.73092	9.460000|9.460000	0.97641|0.97641	2.269000|2.269000	0.75478|0.75478	0.529000|0.529000	0.55759|0.55759	CGT|GTC		0.438	NONO-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057138.1	NM_007363		7	2	0	0	0	1	0	7	2					A	70516423	G	A	70516423	3	1	94	1	0	0	0	0	1	0	0	0	10534	1145	40	1	673	1	NONO	23	70516423	Missense_Mutation	SNP	G	TCGA-EJ-7782-01A-11D-2114-08	2578748	70516423	84754137	498	5317											
TAF1	6872	broad.mit.edu	37	chrX	70613199	70613199	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgatgtggtgcgcacaatgTcaacagaacaggctcgttct	10	11	11	9	2	2	2	1	1	1	1	3	2	2	2	0	2	3	3	0	2	3	2			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chrX:70613199T>C	ENST00000373790.4	+	21	3148	c.3097T>C	c.(3097-3099)Tca>Cca	p.S1033P	TAF1_ENST00000276072.3_Missense_Mutation_p.S1054P|TAF1_ENST00000449580.1_Missense_Mutation_p.S1033P|TAF1_ENST00000423759.1_Missense_Mutation_p.S1054P	NM_004606.3|NM_138923.2	NP_004597.2|NP_620278.1	P21675	TAF1_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa	1033					cellular response to DNA damage stimulus (GO:0006974)|DNA-templated transcription, initiation (GO:0006352)|gene expression (GO:0010467)|histone acetylation (GO:0016573)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)|protein autophosphorylation (GO:0046777)|regulation of transcription involved in G2/M transition of mitotic cell cycle (GO:0000117)|RNA polymerase II transcriptional preinitiation complex assembly (GO:0051123)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)	ATP binding (GO:0005524)|histone acetyltransferase activity (GO:0004402)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|protein serine/threonine kinase activity (GO:0004674)|sequence-specific DNA binding (GO:0043565)|TBP-class protein binding (GO:0017025)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			breast(13)|central_nervous_system(6)|cervix(1)|endometrium(25)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(16)|lung(34)|ovary(9)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	124	Renal(35;0.156)	all_lung(315;0.000321)				GCGCACAATGTCAACAGAACA	0.453																																						ENST00000449580.1																			0				breast(13)|central_nervous_system(6)|cervix(1)|endometrium(25)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(16)|lung(34)|ovary(9)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	124						c.(3097-3099)Tca>Cca		TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa							129	117	121					X																	70613199		2203	4300	6503	SO:0001583	missense	6872				G1 phase of mitotic cell cycle|interspecies interaction between organisms|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription initiation from RNA polymerase II promoter|protein autophosphorylation|regulation of transcription involved in G2/M-phase of mitotic cell cycle|RNA polymerase II transcriptional preinitiation complex assembly|transcription elongation from RNA polymerase II promoter|viral reproduction	MLL1 complex|transcription factor TFIID complex	ATP binding|histone acetyl-lysine binding|histone acetyltransferase activity|p53 binding|protein binding|protein serine/threonine kinase activity|sequence-specific DNA binding|TBP-class protein binding|transcription coactivator activity	g.chrX:70613199T>C		CCDS14412.1, CCDS35325.1, CCDS69783.1	Xq13.1	2011-07-01	2002-08-29	2001-12-07	ENSG00000147133	ENSG00000147133		"Chromatin-modifying enzymes / K-acetyltransferases"	11535	protein-coding gene	gene with protein product		313650	"TATA box binding protein (TBP)-associated factor, RNA polymerase II, A, 250kD", "dystonia 3 (with Parkinsonism)"	TAF2A, BA2R, CCG1, CCGS, DYT3		3556424, 12928496, 17952504	Standard	XM_005262295		Approved	NSCL2, TAFII250, KAT4, DYT3/TAF1	uc004dzt.4	P21675	OTTHUMG00000022723	ENST00000373790.4:c.3097T>C	X.37:g.70613199T>C	ENSP00000362895:p.Ser1033Pro					TAF1_ENST00000373790.4_Missense_Mutation_p.S1033P|TAF1_ENST00000423759.1_Missense_Mutation_p.S1054P|TAF1_ENST00000276072.3_Missense_Mutation_p.S1054P	p.S1033P			P21675	TAF1_HUMAN			21	3148	+	Renal(35;0.156)	all_lung(315;0.000321)	1033					A5CVC8|A5CVC9|A5CVD0|A5CVD1|B1Q2X3|Q59FZ3|Q6IUZ1|Q70Q86|Q70Q87|Q70T00|Q70T01|Q70T02|Q70T03	Missense_Mutation	SNP	ENST00000373790.4	37	c.3097T>C	CCDS35325.1	.	.	.	.	.	.	.	.	.	.	.	33	5.209650	0.95069	.	.	ENSG00000147133	ENST00000373790;ENST00000449580;ENST00000423759;ENST00000276072	T;T;T;T	0.13657	2.58;2.65;2.62;2.57	5.47	5.47	0.80525	.	0.000000	0.85682	D	0.000000	T	0.42607	0.1210	M	0.84511	2.7	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.97110	1.0;0.999;0.999	T	0.48714	-0.9011	10	0.87932	D	0	.	14.6462	0.68762	0.0:0.0:0.0:1.0	.	1033;1033;1054	P21675-4;P21675;P21675-2	.;TAF1_HUMAN;.	P	1033;1033;1054;1054	ENSP00000362895:S1033P;ENSP00000389000:S1033P;ENSP00000406549:S1054P;ENSP00000276072:S1054P	ENSP00000276072:S1054P	S	+	1	0	TAF1	70529924	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.482000	0.81143	1.839000	0.53478	0.486000	0.48141	TCA		0.453	TAF1-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058995.2	NM_004606		28	6	0	0	0	1	0	28	6					C	70613199	T	C	70613199	3	2	94	1	0	0	0	0	1	0	0	0	15510	1667	58	4	3242	4	TAF1	23	70613199	Missense_Mutation	SNP	T	TCGA-EJ-7782-01A-11D-2114-08	96776	70613199	84657361	499	5318											
ACRC	93953	broad.mit.edu	37	chrX	70823665	70823665	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtgatgattcggaagctcccGacgacaatagtgatgattcg	11	10	12	8	4	0	4	0	4	0	0	3	7	1	5	1	1	1	1	1	1	3	3			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chrX:70823665G>A	ENST00000373695.1	+	7	1075	c.538G>A	c.(538-540)Gac>Aac	p.D180N	ACRC_ENST00000373696.3_Missense_Mutation_p.D180N			Q96QF7	ACRC_HUMAN	acidic repeat containing	180	Asp/Ser-rich.					nucleus (GO:0005634)				autonomic_ganglia(1)|breast(1)|endometrium(15)|kidney(4)|large_intestine(4)|lung(20)|ovary(5)|prostate(1)|skin(2)|stomach(1)	54	Renal(35;0.156)					GGAAGCTCCCGACGACAATAG	0.498																																						ENST00000373695.1																			0				autonomic_ganglia(1)|breast(1)|endometrium(15)|kidney(4)|large_intestine(4)|lung(20)|ovary(5)|prostate(1)|skin(2)|stomach(1)	54						c.(538-540)Gac>Aac		acidic repeat containing							273	224	241					X																	70823665		2203	4300	6503	SO:0001583	missense	93953					nucleus		g.chrX:70823665G>A	AJ311392	CCDS35326.1	Xq13.1	2010-08-05			ENSG00000147174	ENSG00000147174			15805	protein-coding gene	gene with protein product		300369					Standard	NM_052957		Approved		uc004eae.2	Q96QF7	OTTHUMG00000033327	ENST00000373695.1:c.538G>A	X.37:g.70823665G>A	ENSP00000362799:p.Asp180Asn					ACRC_ENST00000373696.3_Missense_Mutation_p.D180N	p.D180N			Q96QF7	ACRC_HUMAN			7	1075	+	Renal(35;0.156)		180			Asp/Ser-rich.		B9EG62	Missense_Mutation	SNP	ENST00000373695.1	37	c.538G>A	CCDS35326.1	.	.	.	.	.	.	.	.	.	.	G	8.404	0.842624	0.16963	.	.	ENSG00000147174	ENST00000373696;ENST00000373695	T;T	0.43294	0.95;0.95	0.14	-0.28	0.12886	.	.	.	.	.	T	0.22742	0.0549	N	0.14661	0.345	0.09310	N	1	B	0.11235	0.004	B	0.04013	0.001	T	0.13737	-1.0498	9	0.72032	D	0.01	.	4.6776	0.12719	0.3195:0.0:0.6805:0.0	.	180	Q96QF7	ACRC_HUMAN	N	180	ENSP00000362800:D180N;ENSP00000362799:D180N	ENSP00000362799:D180N	D	+	1	0	ACRC	70740390	0.109000	0.22037	0.004000	0.12327	0.004000	0.04260	0.325000	0.19628	-1.298000	0.02348	-1.306000	0.01317	GAC		0.498	ACRC-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081856.1			119	60	0	0	0	1	0	119	60					A	70823665	G	A	70823665	3	1	94	1	0	0	0	0	1	0	0	0	171	1058	37	2	564	2	ACRC	23	70823665	Missense_Mutation	SNP	G	TCGA-EJ-7782-01A-11D-2114-08	210466	70823665	84446895	500	5319											
BCORL1	63035	broad.mit.edu	37	chrX	129148510	129148510	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccaagatgcccagtggcaccGagcagcaaacagaagggact	14	3	12	12	1	0	2	0	0	0	2	0	4	0	3	3	2	4	3	3	2	3	0			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chrX:129148510G>A	ENST00000218147.7	+	4	1959	c.1762G>A	c.(1762-1764)Gag>Aag	p.E588K	BCORL1_ENST00000540052.1_Missense_Mutation_p.E588K|BCORL1_ENST00000303743.5_Missense_Mutation_p.E588K|BCORL1_ENST00000359304.2_Missense_Mutation_p.E588K			Q5H9F3	BCORL_HUMAN	BCL6 corepressor-like 1	588	Pro-rich.				chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						CAGTGGCACCGAGCAGCAAAC	0.612																																						ENST00000540052.1																			0				breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						c.(1762-1764)Gag>Aag		BCL6 corepressor-like 1							67	57	60					X																	129148510		2203	4300	6503	SO:0001583	missense	63035				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus		g.chrX:129148510G>A	AL136450	CCDS14616.1	Xq25-q26.1	2014-09-17	2010-06-10		ENSG00000085185	ENSG00000085185		"Ankyrin repeat domain containing"	25657	protein-coding gene	gene with protein product		300688	"chromosome X open reading frame 10", "BCL6 co-repressor-like 1"	CXorf10			Standard	NM_021946		Approved	FLJ11362	uc022cdu.1	Q5H9F3	OTTHUMG00000022379	ENST00000218147.7:c.1762G>A	X.37:g.129148510G>A	ENSP00000218147:p.Glu588Lys					BCORL1_ENST00000303743.5_Missense_Mutation_p.E588K|BCORL1_ENST00000359304.2_Missense_Mutation_p.E588K|BCORL1_ENST00000218147.7_Missense_Mutation_p.E588K	p.E588K	NM_021946.4	NP_068765.3	Q5H9F3	BCORL_HUMAN			3	1806	+			588			Pro-rich.		B5MDQ8|Q5H9F2|Q5H9F4|Q6ZVE0|Q8TEN3|Q9Y528	Missense_Mutation	SNP	ENST00000218147.7	37	c.1762G>A	CCDS14616.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	14.76|14.76	2.631250|2.631250	0.46944|0.46944	.|.	.|.	ENSG00000085185|ENSG00000085185	ENST00000218147;ENST00000303743;ENST00000359304;ENST00000540052;ENST00000456822|ENST00000441294	T;T;T;T;T|.	0.51817|.	0.71;1.1;0.69;0.71;1.16|.	5.37|5.37	5.37|5.37	0.77165|0.77165	.|.	0.207707|.	0.24107|.	N|.	0.041486|.	T|T	0.51244|0.51244	0.1663|0.1663	L|L	0.27053|0.27053	0.805|0.805	0.33803|0.33803	D|D	0.626904|0.626904	D;D|.	0.76494|.	0.999;0.991|.	P;P|.	0.61201|.	0.885;0.546|.	T|T	0.59107|0.59107	-0.7516|-0.7516	10|5	0.16896|.	T|.	0.51|.	-13.6538|-13.6538	18.2929|18.2929	0.90136|0.90136	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	588;588|.	Q5H9F3-2;Q5H9F3|.	.;BCORL_HUMAN|.	K|Q	588;588;588;588;188|23	ENSP00000218147:E588K;ENSP00000307541:E588K;ENSP00000352253:E588K;ENSP00000437775:E588K;ENSP00000399483:E188K|.	ENSP00000218147:E588K|.	E|R	+|+	1|2	0|0	BCORL1|BCORL1	128976191|128976191	1.000000|1.000000	0.71417|0.71417	0.905000|0.905000	0.35620|0.35620	0.421000|0.421000	0.31385|0.31385	3.595000|3.595000	0.54016|0.54016	2.259000|2.259000	0.74868|0.74868	0.431000|0.431000	0.28591|0.28591	GAG|CGA		0.612	BCORL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058223.1	NM_021946		35	11	0	0	0	1	0	35	11					A	129148510	G	A	129148510	3	1	94	1	0	0	0	0	1	0	0	0	1387	1059	37	2	1772	2	BCORL1	23	129148510	Missense_Mutation	SNP	G	TCGA-EJ-7782-01A-11D-2114-08	58324845	129148510	26122050	501	5320											
USP26	83844	broad.mit.edu	37	chrX	132160413	132160413	+	Frame_Shift_Del	DEL	T	T	-																															cctttaaagactgtctggccTtttttttgttcagactcctt																										TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chrX:132160413delT	ENST00000511190.1	-	6	2305	c.1836delA	c.(1834-1836)aaafs	p.K612fs	USP26_ENST00000406273.1_Frame_Shift_Del_p.K612fs|USP26_ENST00000370832.1_Frame_Shift_Del_p.K612fs	NM_031907.1	NP_114113.1	Q9BXU7	UBP26_HUMAN	ubiquitin specific peptidase 26	612	USP.				protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleus (GO:0005634)	cysteine-type peptidase activity (GO:0008234)|ubiquitinyl hydrolase activity (GO:0036459)	p.K611fs*4(1)|p.K612fs*6(1)		breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	60	Acute lymphoblastic leukemia(192;0.000127)					CTGTCTGGCCTTTTTTTTGTT	0.413																																					NSCLC(104;342 1621 36940 47097 52632)	ENST00000511190.1																			2	Deletion - Frameshift(2)	p.K611fs*4(1)|p.K612fs*6(1)	urinary_tract(1)|large_intestine(1)	breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	60						c.(1834-1836)aafs		ubiquitin specific peptidase 26				11,3710		5,0,1,1587,536	74	63	67			-7.3	0	X		67	4,6478		1,1,1,2354,1769	no	frameshift	USP26	NM_031907.1		6,1,2,3941,2305	A1A1,A1R,A1,RR,R		0.0617,0.2956,0.147			132160413	15,10188	2203	4299	6502	SO:0001589	frameshift_variant	83844				protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus	cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity	g.chrX:132160413delT	AF285593	CCDS14635.1	Xq26.2	2012-07-13	2005-08-08		ENSG00000134588	ENSG00000134588	3.4.19.12	"Ubiquitin-specific peptidases"	13485	protein-coding gene	gene with protein product		300309	"ubiquitin specific protease 26"			12838346	Standard	NM_031907		Approved		uc011mvf.2	Q9BXU7	OTTHUMG00000022429	ENST00000511190.1:c.1836delA	X.37:g.132160413delT	ENSP00000423390:p.Lys612fs					USP26_ENST00000406273.1_Frame_Shift_Del_p.K612fs|USP26_ENST00000370832.1_Frame_Shift_Del_p.K612fs	p.K612fs	NM_031907.1	NP_114113.1	Q9BXU7	UBP26_HUMAN			6	2305	-	Acute lymphoblastic leukemia(192;0.000127)		612					B9WRT6|Q5H9H4	Frame_Shift_Del	DEL	ENST00000511190.1	37	c.1836delA	CCDS14635.1																																																																																				0.413	USP26-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359441.1	NM_031907		16	15						16	15	---	---	---	---	-	132160413	T	-	132160413	7	5	94	1	0	1	0	1	0	0	0	0	17054	1606	56	0	908	0	USP26	23	132160413	Frame_Shift_Del	DEL	T	TCGA-EJ-7782-01A-11D-2114-08	3011903	132160413	23110147	502	5321											
ZNF75D	7626	broad.mit.edu	37	chrX	134427900	134427900	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtccggttgcttcatgataaCggaagctccagaagtgcctg	9	10	12	10	2	1	2	1	1	0	1	3	3	3	3	3	2	4	3	3	2	3	3	rs148068840		TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chrX:134427900C>T	ENST00000370766.3	-	3	2876	c.167G>A	c.(166-168)cGt>cAt	p.R56H	ZNF75D_ENST00000494295.1_Intron|ZNF75D_ENST00000370764.1_Missense_Mutation_p.R56H	NM_007131.3	NP_009062.2	P51815	ZN75D_HUMAN	zinc finger protein 75D	56	SCAN box. {ECO:0000255|PROSITE- ProRule:PRU00187}.				transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(14)|upper_aerodigestive_tract(1)|urinary_tract(2)	31						TTCATGATAACGGAAGCTCCA	0.478																																						ENST00000370766.3																			0				autonomic_ganglia(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(14)|upper_aerodigestive_tract(1)|urinary_tract(2)	31						c.(166-168)cGt>cAt		zinc finger protein 75D		C	HIS/ARG,HIS/ARG	0,3835		0,0,1632,571	93	81	85		167,167	-3.4	0	X	dbSNP_134	85	1,6727		0,1,2427,1872	no	missense,missense	ZNF75D	NM_001185063.1,NM_007131.3	29,29	0,1,4059,2443	TT,TC,CC,C		0.0149,0.0,0.0095	benign,benign	56/416,56/511	134427900	1,10562	2203	4300	6503	SO:0001583	missense	7626				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chrX:134427900C>T	S43109	CCDS14648.1, CCDS55503.1	Xq26	2013-01-09	2008-06-11	2008-06-11	ENSG00000186376	ENSG00000186376		"Zinc fingers, C2H2-type", "-", "-", "-"	13145	protein-coding gene	gene with protein product		314997	"zinc finger protein 75 (D8C6)"	ZNF82, ZNF75		1505955	Standard	XM_005262469		Approved	ZKSCAN24, D8C6, ZSCAN28	uc004eyo.3	P51815	OTTHUMG00000022482	ENST00000370766.3:c.167G>A	X.37:g.134427900C>T	ENSP00000359802:p.Arg56His					ZNF75D_ENST00000370764.1_Missense_Mutation_p.R56H|ZNF75D_ENST00000494295.1_Intron	p.R56H	NM_007131.3	NP_009062.2	P51815	ZN75D_HUMAN			3	2876	-			56			SCAN box.		A6NK62|B3KRI7|Q5JPG0|Q6LDE0	Missense_Mutation	SNP	ENST00000370766.3	37	c.167G>A	CCDS14648.1	.	.	.	.	.	.	.	.	.	.	C	8.261	0.811228	0.16537	0.0	1.49E-4	ENSG00000186376	ENST00000370766;ENST00000370764	T;T	0.04317	3.65;3.65	2.96	-3.41	0.04839	Retrovirus capsid, C-terminal (1);Transcription regulator SCAN (3);	.	.	.	.	T	0.02342	0.0072	N	0.13003	0.285	0.09310	N	1	B;B	0.10296	0.002;0.003	B;B	0.04013	0.001;0.001	T	0.48305	-0.9047	9	0.15499	T	0.54	.	5.1084	0.14796	0.1909:0.6096:0.0:0.1995	.	56;56	P51815;A6NK62	ZN75D_HUMAN;.	H	56	ENSP00000359802:R56H;ENSP00000359800:R56H	ENSP00000359800:R56H	R	-	2	0	ZNF75D	134255566	0.816000	0.29132	0.000000	0.03702	0.043000	0.13939	-0.649000	0.05384	-0.832000	0.04251	-0.514000	0.04452	CGT		0.478	ZNF75D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058415.1	NM_007131		4	54	0	0	0	1	0	4	54					T	134427900	C	T	134427900	3	4	94	1	0	0	0	0	1	0	0	0	18131	536	19	1	1385	1	ZNF75D	23	134427900	Missense_Mutation	SNP	C	TCGA-EJ-7782-01A-11D-2114-08	2267487	134427900	20842660	503	5322											
GPR112	139378	broad.mit.edu	37	chrX	135429592	135429592	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catatcgtgtacacacaccaGtgtccatccagttggtgact	10	11	8	12	1	0	1	0	1	0	0	3	1	2	1	3	1	1	2	3	1	2	3	rs370044190		TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chrX:135429592G>A	ENST00000394143.1	+	6	4018	c.3727G>A	c.(3727-3729)Gtg>Atg	p.V1243M	GPR112_ENST00000412101.1_Missense_Mutation_p.V1038M|GPR112_ENST00000394141.1_Missense_Mutation_p.V1038M|GPR112_ENST00000370652.1_Missense_Mutation_p.V1243M|GPR112_ENST00000287534.4_Missense_Mutation_p.V1180M	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	1243					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					ACACACACCAGTGTCCATCCA	0.458																																						ENST00000394143.1																			0				NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199						c.(3727-3729)Gtg>Atg		G protein-coupled receptor 112							226	191	203					X																	135429592		2203	4300	6503	SO:0001583	missense	139378				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chrX:135429592G>A	AY140954	CCDS35409.1	Xq26.3	2014-08-08			ENSG00000156920	ENSG00000156920		"-", "GPCR / Class B : Orphans"	18992	protein-coding gene	gene with protein product						12435584	Standard	XM_005262367		Approved	RP1-299I16, PGR17	uc004ezu.1	Q8IZF6	OTTHUMG00000022508	ENST00000394143.1:c.3727G>A	X.37:g.135429592G>A	ENSP00000377699:p.Val1243Met					GPR112_ENST00000287534.4_Missense_Mutation_p.V1180M|GPR112_ENST00000412101.1_Missense_Mutation_p.V1038M|GPR112_ENST00000394141.1_Missense_Mutation_p.V1038M|GPR112_ENST00000370652.1_Missense_Mutation_p.V1243M	p.V1243M	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN			6	4018	+	Acute lymphoblastic leukemia(192;0.000127)		1243					A2A2J1|A2A2J2|Q5EGP2|Q86SM6	Missense_Mutation	SNP	ENST00000394143.1	37	c.3727G>A	CCDS35409.1	.	.	.	.	.	.	.	.	.	.	g	6.224	0.409426	0.11812	.	.	ENSG00000156920	ENST00000394143;ENST00000370652;ENST00000412101;ENST00000287534;ENST00000394141	T;T;T;T;T	0.35973	1.31;1.31;1.28;1.41;1.28	3.05	-0.0882	0.13674	.	.	.	.	.	T	0.18882	0.0453	N	0.19112	0.55	0.09310	N	1	B;B;B	0.24368	0.102;0.012;0.007	B;B;B	0.18871	0.015;0.023;0.01	T	0.21793	-1.0235	9	0.26408	T	0.33	.	5.2108	0.15316	0.4987:0.0:0.5013:0.0	.	1180;1038;1243	Q8IZF6-2;Q8IZF6-3;Q8IZF6	.;.;GP112_HUMAN	M	1243;1243;1038;1180;1038	ENSP00000377699:V1243M;ENSP00000359686:V1243M;ENSP00000416526:V1038M;ENSP00000287534:V1180M;ENSP00000377697:V1038M	ENSP00000287534:V1180M	V	+	1	0	GPR112	135257258	0.000000	0.05858	0.001000	0.08648	0.007000	0.05969	0.179000	0.16840	-0.002000	0.14469	-0.523000	0.04350	GTG		0.458	GPR112-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000286639.1			7	72	0	0	0	1	0	7	72					A	135429592	G	A	135429592	3	1	94	1	0	0	0	0	1	0	0	0	6629	1029	36	3	3737	3	GPR112	23	135429592	Missense_Mutation	SNP	G	TCGA-EJ-7782-01A-11D-2114-08	1001692	135429592	19840968	504	5323											
SLITRK4	139065	broad.mit.edu	37	chrX	142716669	142716669	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ataaacacattggaatccctGctagggaataattcatccag	15	10	7	9	0	1	0	1	0	0	0	3	2	3	2	2	2	2	1	2	2	6	5			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chrX:142716669G>A	ENST00000381779.4	-	2	2481	c.2256C>T	c.(2254-2256)agC>agT	p.S752S	SLITRK4_ENST00000356928.1_Silent_p.S752S|SLITRK4_ENST00000338017.4_Silent_p.S752S	NM_001184749.2|NM_001184750.1|NM_173078.4	NP_001171678.1|NP_001171679.1|NP_775101.1	Q8IW52	SLIK4_HUMAN	SLIT and NTRK-like family, member 4	752						integral component of membrane (GO:0016021)				autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(27)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	60	Acute lymphoblastic leukemia(192;6.56e-05)					TGGAATCCCTGCTAGGGAATA	0.383																																						ENST00000381779.4																			0				autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(27)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	60						c.(2254-2256)agC>agT		SLIT and NTRK-like family, member 4							98	98	98					X																	142716669		2203	4300	6503	SO:0001819	synonymous_variant	139065					integral to membrane		g.chrX:142716669G>A	BC040986	CCDS14679.1	Xq27.3	2004-06-23			ENSG00000179542	ENSG00000179542			23502	protein-coding gene	gene with protein product		300562				14557068	Standard	NM_001184749		Approved	DKFZp547M2010	uc004fby.3	Q8IW52	OTTHUMG00000022580	ENST00000381779.4:c.2256C>T	X.37:g.142716669G>A						SLITRK4_ENST00000356928.1_Silent_p.S752S|SLITRK4_ENST00000338017.4_Silent_p.S752S	p.S752S	NM_001184749.1|NM_001184750.1|NM_173078.3	NP_001171678.1|NP_001171679.1|NP_775101.1	Q8IW52	SLIK4_HUMAN			2	2481	-	Acute lymphoblastic leukemia(192;6.56e-05)		752					Q5JXG3|Q8TCM8|Q96DL3	Silent	SNP	ENST00000381779.4	37	c.2256C>T	CCDS14679.1																																																																																				0.383	SLITRK4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058617.1	NM_173078		17	63	0	0	0	1	0	17	63					A	142716669	G	A	142716669	2	1	94	1	0	0	0	0	0	0	0	1	14745	1310	46	3		3	SLITRK4	23	142716669	Silent	SNP	G	TCGA-EJ-7782-01A-11D-2114-08	7287077	142716669	12553891	505	5324											
RAB39B	116442	broad.mit.edu	37	chrX	154490316	154490316	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tatgcagcagccagtttctcGgcctcgtggcgagtcacttg	6	11	12	12	3	2	0	1	0	1	0	4	1	2	0	2	2	3	3	2	2	1	3			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chrX:154490316G>A	ENST00000369454.3	-	2	714	c.414C>T	c.(412-414)gcC>gcT	p.A138A		NM_171998.2	NP_741995.1	Q96DA2	RB39B_HUMAN	RAB39B, member RAS oncogene family	138					protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)|synapse organization (GO:0050808)|vesicle-mediated transport (GO:0016192)	Golgi apparatus (GO:0005794)|intracellular (GO:0005622)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	GTP binding (GO:0005525)|myosin V binding (GO:0031489)	p.A138A(2)		breast(1)|central_nervous_system(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(12)	19	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					CCAGTTTCTCGGCCTCGTGGC	0.488																																						ENST00000369454.3																			2	Substitution - coding silent(2)	p.A138A(2)	lung(2)	breast(1)|central_nervous_system(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(12)	19						c.(412-414)gcC>gcT		RAB39B, member RAS oncogene family							121	104	110					X																	154490316		2203	4300	6503	SO:0001819	synonymous_variant	116442				protein transport|small GTPase mediated signal transduction|synapse organization|vesicle-mediated transport	Golgi apparatus|plasma membrane	GTP binding	g.chrX:154490316G>A	AY052478	CCDS14766.1	Xq28	2014-01-31			ENSG00000155961	ENSG00000155961		"RAB, member RAS oncogene"	16499	protein-coding gene	gene with protein product		300774	"mental retardation, X-linked 72"	MRX72		12438742, 20159109	Standard	NM_171998		Approved		uc004fne.3	Q96DA2	OTTHUMG00000022659	ENST00000369454.3:c.414C>T	X.37:g.154490316G>A							p.A138A	NM_171998.2	NP_741995.1	Q96DA2	RB39B_HUMAN			2	714	-	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)		138					Q5JT79|Q8NEX3	Silent	SNP	ENST00000369454.3	37	c.414C>T	CCDS14766.1																																																																																				0.488	RAB39B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058792.1	NM_171998		48	26	0	0	0	1	0	48	26					A	154490316	G	A	154490316	2	1	94	1	0	0	0	0	0	0	0	1	12930	1103	39	2		2	RAB39B	23	154490316	Silent	SNP	G	TCGA-EJ-7782-01A-11D-2114-08	11773647	154490316	780244	506	5325											
NBPF3	84224	broad.mit.edu	37	chr1	21806573	21806573	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagctgctggatgagaaagAgcctgaagtcttgcaggact	11	8	15	7	0	1	3	0	2	1	2	1	7	1	6	1	3	4	3	1	3	2	1			TCGA-EJ-7783-01A-11D-2114-08	TCGA-EJ-7783-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9221a776-a241-48a2-b486-98902a8628f8	2ef588a2-879b-49c7-b880-227f72467804	g.chr1:21806573A>G	ENST00000318249.5	+	11	1588	c.1238A>G	c.(1237-1239)gAg>gGg	p.E413G	NBPF3_ENST00000454000.2_Missense_Mutation_p.E343G|NBPF3_ENST00000342104.5_Missense_Mutation_p.E401G|NBPF3_ENST00000318220.6_Missense_Mutation_p.E357G	NM_032264.3	NP_115640.1	Q9H094	NBPF3_HUMAN	neuroblastoma breakpoint family, member 3	413	NBPF 3. {ECO:0000255|PROSITE- ProRule:PRU00647}.					cytoplasm (GO:0005737)		p.E413G(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	20		all_lung(284;2.16e-05)|Lung NSC(340;2.19e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|OV - Ovarian serous cystadenocarcinoma(117;7.53e-27)|COAD - Colon adenocarcinoma(152;1.18e-05)|GBM - Glioblastoma multiforme(114;3.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000143)|STAD - Stomach adenocarcinoma(196;0.00306)|KIRC - Kidney renal clear cell carcinoma(1967;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		GATGAGAAAGAGCCTGAAGTC	0.463																																						ENST00000318220.6																			1	Substitution - Missense(1)	p.E413G(1)	endometrium(1)	breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	20						c.(1069-1071)gAg>gGg		neuroblastoma breakpoint family, member 3							38	29	33					1																	21806573		2167	3971	6138	SO:0001583	missense	84224					cytoplasm		g.chr1:21806573A>G	BC024011	CCDS216.1, CCDS57976.1, CCDS57977.1	1p36.12	2013-01-17			ENSG00000142794	ENSG00000142794		"neuroblastoma breakpoint family"	25076	protein-coding gene	gene with protein product		612992				11230166, 16079250	Standard	NM_032264		Approved	AE2	uc001ber.4	Q9H094	OTTHUMG00000002944	ENST00000318249.5:c.1238A>G	1.37:g.21806573A>G	ENSP00000316782:p.Glu413Gly					NBPF3_ENST00000318249.5_Missense_Mutation_p.E413G|NBPF3_ENST00000454000.2_Missense_Mutation_p.E343G|NBPF3_ENST00000342104.5_Missense_Mutation_p.E401G	p.E357G			Q9H094	NBPF3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|OV - Ovarian serous cystadenocarcinoma(117;7.53e-27)|COAD - Colon adenocarcinoma(152;1.18e-05)|GBM - Glioblastoma multiforme(114;3.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000143)|STAD - Stomach adenocarcinoma(196;0.00306)|KIRC - Kidney renal clear cell carcinoma(1967;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)	14	2118	+		all_lung(284;2.16e-05)|Lung NSC(340;2.19e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)	413			NBPF 2.		A8K965|B4DSP2|I3L0I8|Q3BBW1|Q5VTG2|Q5VTG3|Q5VTG4|Q8IX78|Q8ND86|Q8TC96	Missense_Mutation	SNP	ENST00000318249.5	37	c.1070A>G	CCDS216.1	.	.	.	.	.	.	.	.	.	.	.	6.316	0.426410	0.11987	.	.	ENSG00000142794	ENST00000454000;ENST00000318220;ENST00000318249;ENST00000342104;ENST00000434838	T;T;T;T;T	0.15603	2.41;2.41;2.41;2.41;2.41	0.658	0.658	0.17855	DUF1220 (2);	.	.	.	.	T	0.12689	0.0308	L	0.37850	1.14	0.09310	N	1	B;B;B	0.12013	0.005;0.0;0.004	B;B;B	0.23150	0.044;0.001;0.008	T	0.31724	-0.9933	8	0.31617	T	0.26	.	.	.	.	.	343;401;413	B4DSP2;Q9H094-3;Q9H094	.;.;NBPF3_HUMAN	G	343;357;413;401;357	ENSP00000415711:E343G;ENSP00000316739:E357G;ENSP00000316782:E413G;ENSP00000340336:E401G;ENSP00000391865:E357G	ENSP00000316739:E357G	E	+	2	0	NBPF3	21679160	0.005000	0.15991	0.004000	0.12327	0.308000	0.27856	0.130000	0.15850	0.565000	0.29255	0.102000	0.15555	GAG		0.463	NBPF3-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_032264		3	43	0	0	0	0.115264	0	3	43					G	21806573	A	G	21806573	3	3	95	1	0	0	0	0	1	0	0	0	10197	304	11	4	1276	4	NBPF3	1	21806573	Missense_Mutation	SNP	A	TCGA-EJ-7783-01A-11D-2114-08		21806573	227444048	1	5326											
AHDC1	27245	broad.mit.edu	37	chr1	27874814	27874814	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaccgccccgtccacctcgCggctgccggggcccagtgct	3	5	12	21	5	0	0	0	0	0	0	2	0	1	0	8	3	2	2	8	3	0	0	rs376593773		TCGA-EJ-7783-01A-11D-2114-08	TCGA-EJ-7783-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9221a776-a241-48a2-b486-98902a8628f8	2ef588a2-879b-49c7-b880-227f72467804	g.chr1:27874814C>T	ENST00000247087.5	-	5	4409	c.3813G>A	c.(3811-3813)ccG>ccA	p.P1271P	AHDC1_ENST00000374011.2_Silent_p.P1271P			Q5TGY3	AHDC1_HUMAN	AT hook, DNA binding motif, containing 1	1271							DNA binding (GO:0003677)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;8.48e-25)|Colorectal(126;9.17e-09)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00192)|BRCA - Breast invasive adenocarcinoma(304;0.00259)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0291)		GTCCACCTCGCGGCTGCCGGG	0.677																																						ENST00000374011.2																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42						c.(3811-3813)ccG>ccA		AT hook, DNA binding motif, containing 1		C		1,4403		0,1,2201	40	51	48		3813	-9.8	0.8	1		48	1,8591		0,1,4295	no	coding-synonymous	AHDC1	NM_001029882.2		0,2,6496	TT,TC,CC		0.0116,0.0227,0.0154		1271/1604	27874814	2,12994	2202	4296	6498	SO:0001819	synonymous_variant	27245						DNA binding	g.chr1:27874814C>T	AK125431	CCDS30652.1	1p36.13	2008-02-05			ENSG00000126705	ENSG00000126705			25230	protein-coding gene	gene with protein product		615790				8619474, 9110174	Standard	XM_005245848		Approved	DJ159A19.3, RP1-159A19.1	uc009vsy.3	Q5TGY3	OTTHUMG00000003398	ENST00000247087.5:c.3813G>A	1.37:g.27874814C>T						AHDC1_ENST00000247087.5_Silent_p.P1271P|AHDC1_ENST00000482400.2_Intron	p.P1271P	NM_001029882.2	NP_001025053.1	Q5TGY3	AHDC1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;8.48e-25)|Colorectal(126;9.17e-09)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00192)|BRCA - Breast invasive adenocarcinoma(304;0.00259)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0291)	6	4781	-		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	1271					Q5TGY4|Q6PJK1|Q6ZUQ6|Q99769|Q9NUF5	Silent	SNP	ENST00000247087.5	37	c.3813G>A	CCDS30652.1																																																																																				0.677	AHDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009523.3			29	105	0	0	0	0.769981	0	29	105					T	27874814	C	T	27874814	2	4	95	1	0	0	0	0	0	0	0	1	412	755	27	1		1	AHDC1	1	27874814	Silent	SNP	C	TCGA-EJ-7783-01A-11D-2114-08	6068241	27874814	221375807	2	5327											
FAF1	11124	broad.mit.edu	37	chr1	51253785	51253785	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcctggatggcattacaggtCgaaacgctgaagaagaagag	14	6	14	7	2	0	4	0	1	0	3	1	6	0	5	1	3	2	2	1	3	5	1	rs370452298		TCGA-EJ-7783-01A-11D-2114-08	TCGA-EJ-7783-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9221a776-a241-48a2-b486-98902a8628f8	2ef588a2-879b-49c7-b880-227f72467804	g.chr1:51253785C>T	ENST00000396153.2	-	4	705	c.254G>A	c.(253-255)cGa>cAa	p.R85Q	FAF1_ENST00000371778.4_Missense_Mutation_p.R85Q	NM_007051.2	NP_008982.1	Q9UNN5	FAF1_HUMAN	Fas (TNFRSF6) associated factor 1	85					apoptotic process (GO:0006915)|cell death (GO:0008219)|cytoplasmic sequestering of NF-kappaB (GO:0007253)|positive regulation of apoptotic process (GO:0043065)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of protein complex assembly (GO:0031334)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|regulation of cell adhesion (GO:0030155)|regulation of protein catabolic process (GO:0042176)|regulation of protein kinase activity (GO:0045859)	CD95 death-inducing signaling complex (GO:0031265)|Cdc48p-Npl4p-Ufd1p AAA ATPase complex (GO:0034098)|cytosol (GO:0005829)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	heat shock protein binding (GO:0031072)|NF-kappaB binding (GO:0051059)|protein kinase binding (GO:0019901)|protein kinase regulator activity (GO:0019887)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)	p.0?(3)		breast(2)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|pancreas(2)|upper_aerodigestive_tract(1)	24				GBM - Glioblastoma multiforme(3;3.18e-11)|all cancers(3;0.00526)		CATTACAGGTCGAAACGCTGA	0.458																																						ENST00000396153.2																			3	Whole gene deletion(3)	p.0?(3)	thyroid(1)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)	breast(2)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|pancreas(2)|upper_aerodigestive_tract(1)	24						c.(253-255)cGa>cAa		Fas (TNFRSF6) associated factor 1							111	98	103					1																	51253785		2203	4300	6503	SO:0001583	missense	11124				apoptosis|cytoplasmic sequestering of NF-kappaB|positive regulation of apoptosis|positive regulation of protein complex assembly|proteasomal ubiquitin-dependent protein catabolic process|regulation of protein catabolic process	CD95 death-inducing signaling complex|cytosol|perinuclear region of cytoplasm	heat shock protein binding|NF-kappaB binding|protein kinase binding|protein kinase regulator activity	g.chr1:51253785C>T	AF132938	CCDS554.1	1p32.3	2012-09-20			ENSG00000185104	ENSG00000185104		"UBX domain containing"	3578	protein-coding gene	gene with protein product	"TNFRSF6-associated factor 1", "UBX domain protein 3A"	604460				10462485	Standard	NM_007051		Approved	CGI-03, hFAF1, HFAF1s, UBXD12, UBXN3A	uc001cse.1	Q9UNN5	OTTHUMG00000007930	ENST00000396153.2:c.254G>A	1.37:g.51253785C>T	ENSP00000379457:p.Arg85Gln					FAF1_ENST00000371778.4_Missense_Mutation_p.R85Q	p.R85Q	NM_007051.2	NP_008982.1	Q9UNN5	FAF1_HUMAN		GBM - Glioblastoma multiforme(3;3.18e-11)|all cancers(3;0.00526)	4	705	-			85					Q549F0|Q9UF34|Q9UNT3|Q9Y2Z3	Missense_Mutation	SNP	ENST00000396153.2	37	c.254G>A	CCDS554.1	.	.	.	.	.	.	.	.	.	.	C	16.18	3.049354	0.55218	.	.	ENSG00000185104	ENST00000396153;ENST00000371778;ENST00000371780;ENST00000543607	.	.	.	5.96	5.05	0.67936	.	0.059993	0.64402	D	0.000001	T	0.26448	0.0646	N	0.19112	0.55	0.80722	D	1	P	0.48998	0.918	B	0.32090	0.14	T	0.07829	-1.0752	9	0.13470	T	0.59	-21.5233	15.1575	0.72755	0.0:0.9325:0.0:0.0675	.	85	Q9UNN5	FAF1_HUMAN	Q	85;85;77;85	.	ENSP00000360843:R85Q	R	-	2	0	FAF1	51026373	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	4.689000	0.61723	1.532000	0.49169	0.655000	0.94253	CGA		0.458	FAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021807.1	NM_007051		15	46	0	0	0	0.539581	0	15	46					T	51253785	C	T	51253785	3	4	95	1	0	0	0	0	1	0	0	0	5369	884	31	2	1762	2	FAF1	1	51253785	Missense_Mutation	SNP	C	TCGA-EJ-7783-01A-11D-2114-08	23378971	51253785	197996836	3	5328											
FNDC7	163479	broad.mit.edu	37	chr1	109276138	109276138	+	Frame_Shift_Del	DEL	A	A	-																															ttgaagcttactttctgtccAaaaaaaatatattcaggtaa																										TCGA-EJ-7783-01A-11D-2114-08	TCGA-EJ-7783-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9221a776-a241-48a2-b486-98902a8628f8	c95e112d-dcf8-4bf7-b49b-bedc196d7cbf	g.chr1:109276138delA	ENST00000370017.3	+	10	2401	c.2124delA	c.(2122-2124)ccafs	p.P708fs	RP11-293A10.3_ENST00000437400.2_RNA|FNDC7_ENST00000271311.2_Frame_Shift_Del_p.P709fs	NM_001144937.1	NP_001138409.1	Q5VTL7	FNDC7_HUMAN	fibronectin type III domain containing 7	708	Fibronectin type-III 8. {ECO:0000255|PROSITE-ProRule:PRU00316}.					extracellular region (GO:0005576)		p.I478fs*4(1)		breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|skin(4)|stomach(1)|urinary_tract(1)	20		all_lung(203;0.00439)|Lung NSC(277;0.00683)|all_epithelial(167;0.00728)		Colorectal(144;0.0314)|Lung(183;0.0924)|COAD - Colon adenocarcinoma(174;0.119)|Epithelial(280;0.173)|all cancers(265;0.244)		CTTTCTGTCCAAAAAAAATAT	0.363																																						ENST00000370017.3																			1	Deletion - Frameshift(1)	p.I478fs*4(1)	large_intestine(1)	breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|skin(4)|stomach(1)|urinary_tract(1)	20						c.(2122-2124)ccfs		fibronectin type III domain containing 7							65	66	66					1																	109276138		2203	4300	6503	SO:0001589	frameshift_variant	163479					extracellular region		g.chr1:109276138delA		CCDS44185.1	1p13.3	2013-02-11			ENSG00000143107	ENSG00000143107		"Fibronectin type III domain containing"	26668	protein-coding gene	gene with protein product						12477932	Standard	NM_001144937		Approved	FLJ35838	uc001dvx.3	Q5VTL7	OTTHUMG00000011120	ENST00000370017.3:c.2124delA	1.37:g.109276138delA	ENSP00000359034:p.Pro708fs					FNDC7_ENST00000271311.2_Frame_Shift_Del_p.P709fs	p.P708fs	NM_001144937.1	NP_001138409.1	Q5VTL7	FNDC7_HUMAN		Colorectal(144;0.0314)|Lung(183;0.0924)|COAD - Colon adenocarcinoma(174;0.119)|Epithelial(280;0.173)|all cancers(265;0.244)	10	2401	+		all_lung(203;0.00439)|Lung NSC(277;0.00683)|all_epithelial(167;0.00728)	709			Fibronectin type-III 8.		A1L468|E9PAZ5|Q6PF16|Q8NA51	Frame_Shift_Del	DEL	ENST00000370017.3	37	c.2124delA	CCDS44185.1																																																																																				0.363	FNDC7-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030589.4	NM_173532		7	89						7	89	---	---	---	---	-	109276138	A	-	109276138	7	5	95	1	0	1	0	1	0	0	0	0	5973	117	5	0	2162	0	FNDC7	1	109276138	Frame_Shift_Del	DEL	A	TCGA-EJ-7783-01A-11D-2114-08	58022353	109276138	139974483	4	5329											
CELSR2	1952	broad.mit.edu	37	chr1	109803759	109803759	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acctgctggtgggcggtttcAagtgcgattgcccatctgga	6	11	14	10	2	2	0	1	0	1	0	2	2	2	1	2	4	3	2	2	4	1	2			TCGA-EJ-7783-01A-11D-2114-08	TCGA-EJ-7783-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9221a776-a241-48a2-b486-98902a8628f8	2ef588a2-879b-49c7-b880-227f72467804	g.chr1:109803759A>G	ENST00000271332.3	+	3	4115	c.4054A>G	c.(4054-4056)Aag>Gag	p.K1352E		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	1352	EGF-like 3; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				cerebrospinal fluid secretion (GO:0033326)|cilium assembly (GO:0042384)|cilium movement (GO:0003341)|dendrite morphogenesis (GO:0048813)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neural plate anterior/posterior regionalization (GO:0021999)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of cell-cell adhesion (GO:0022407)|regulation of protein localization (GO:0032880)|regulation of transcription, DNA-templated (GO:0006355)|ventricular system development (GO:0021591)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		GGGCGGTTTCAAGTGCGATTG	0.627																																					NSCLC(158;1285 2011 34800 34852 42084)	ENST00000271332.3																			0				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82						c.(4054-4056)Aag>Gag		cadherin, EGF LAG seven-pass G-type receptor 2							100	96	98					1																	109803759		2203	4300	6503	SO:0001583	missense	1952				dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding	g.chr1:109803759A>G	D87469	CCDS796.1	1p13.3	2014-08-08	2013-02-18		ENSG00000143126	ENSG00000143126		"Cadherins / Major cadherins", "-", "GPCR / Class B : Orphans"	3231	protein-coding gene	gene with protein product		604265	"cadherin, EGF LAG seven-pass G-type receptor 2, flamingo (Drosophila) homolog"	EGFL2		9693030, 10907856	Standard	NM_001408		Approved	KIAA0279, MEGF3, Flamingo1, CDHF10	uc001dxa.4	Q9HCU4	OTTHUMG00000012003	ENST00000271332.3:c.4054A>G	1.37:g.109803759A>G	ENSP00000271332:p.Lys1352Glu						p.K1352E	NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)	3	4115	+		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)	1352			EGF-like 3; calcium-binding.		Q5T2Y7|Q92566	Missense_Mutation	SNP	ENST00000271332.3	37	c.4054A>G	CCDS796.1	.	.	.	.	.	.	.	.	.	.	A	16.78	3.217153	0.58560	.	.	ENSG00000143126	ENST00000271332	D	0.87491	-2.26	4.77	4.77	0.60923	Concanavalin A-like lectin/glucanase (1);Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	.	.	.	.	T	0.68778	0.3038	L	0.31664	0.95	0.45477	D	0.99844	P	0.47302	0.893	B	0.39590	0.304	T	0.70099	-0.4965	9	0.24483	T	0.36	.	11.4327	0.50050	0.8384:0.1616:0.0:0.0	.	1352	Q9HCU4	CELR2_HUMAN	E	1352	ENSP00000271332:K1352E	ENSP00000271332:K1352E	K	+	1	0	CELSR2	109605282	1.000000	0.71417	1.000000	0.80357	0.902000	0.53008	2.856000	0.48341	2.007000	0.58848	0.459000	0.35465	AAG		0.627	CELSR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033200.1	NM_001408		34	130	0	0	0	0.819951	0	34	130					G	109803759	A	G	109803759	3	3	95	1	0	0	0	0	1	0	0	0	3222	131	5	4	4064	4	CELSR2	1	109803759	Missense_Mutation	SNP	A	TCGA-EJ-7783-01A-11D-2114-08	527621	109803759	139446862	5	5330											
CSDE1	7812	broad.mit.edu	37	chr1	115262240	115262240	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggcgctgcacttgccagtgcGctgattaagaatcactgaga	10	9	12	10	2	1	3	1	2	0	2	1	4	1	3	1	1	3	3	1	1	2	2			TCGA-EJ-7783-01A-11D-2114-08	TCGA-EJ-7783-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9221a776-a241-48a2-b486-98902a8628f8	2ef588a2-879b-49c7-b880-227f72467804	g.chr1:115262240G>A	ENST00000358528.4	-	18	2602	c.2176C>T	c.(2176-2178)Cgc>Tgc	p.R726C	CSDE1_ENST00000530886.1_Missense_Mutation_p.R596C|CSDE1_ENST00000261443.5_Missense_Mutation_p.R695C|CSDE1_ENST00000483407.1_5'Flank|NRAS_ENST00000369535.4_5'Flank|CSDE1_ENST00000534699.1_Missense_Mutation_p.R726C|CSDE1_ENST00000369530.1_Missense_Mutation_p.R741C|CSDE1_ENST00000438362.2_Missense_Mutation_p.R772C|CSDE1_ENST00000339438.6_Missense_Mutation_p.R695C	NM_001007553.2	NP_001007554.1	O75534	CSDE1_HUMAN	cold shock domain containing E1, RNA-binding	726	CSD 9.				male gonad development (GO:0008584)|nuclear-transcribed mRNA catabolic process, no-go decay (GO:0070966)|regulation of transcription, DNA-templated (GO:0006355)	CRD-mediated mRNA stability complex (GO:0070937)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(4)|endometrium(11)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	51	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;2.21e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		TTGCCAGTGCGCTGATTAAGA	0.453																																						ENST00000438362.2																			0				NS(1)|breast(4)|endometrium(11)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	51						c.(2314-2316)Cgc>Tgc		cold shock domain containing E1, RNA-binding							146	146	146					1																	115262240		2203	4300	6503	SO:0001583	missense	7812				male gonad development|regulation of transcription, DNA-dependent	cytoplasm	DNA binding|protein binding|RNA binding	g.chr1:115262240G>A		CCDS30811.1, CCDS30812.1, CCDS44197.1, CCDS55626.1	1p13.2	2011-11-02			ENSG00000009307	ENSG00000009307			29905	protein-coding gene	gene with protein product	"upstream of NRAS"	191510				2204029, 10048485	Standard	NM_007158		Approved	D1S155E, UNR	uc001efi.3	O75534	OTTHUMG00000012060	ENST00000358528.4:c.2176C>T	1.37:g.115262240G>A	ENSP00000351329:p.Arg726Cys					CSDE1_ENST00000261443.5_Missense_Mutation_p.R695C|CSDE1_ENST00000369530.1_Missense_Mutation_p.R741C|CSDE1_ENST00000534699.1_Missense_Mutation_p.R726C|CSDE1_ENST00000339438.6_Missense_Mutation_p.R695C|CSDE1_ENST00000530886.1_Missense_Mutation_p.R596C|CSDE1_ENST00000358528.4_Missense_Mutation_p.R726C	p.R772C	NM_001242891.1	NP_001229820.1	O75534	CSDE1_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	18	2692	-	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;2.21e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)	726					A8K281|E9PGZ0|G5E9Q2|O94961|Q5TF04|Q5TF05|Q68DF1|Q68DI9|Q9Y2S4	Missense_Mutation	SNP	ENST00000358528.4	37	c.2314C>T	CCDS30812.1	.	.	.	.	.	.	.	.	.	.	G	20.1	3.933538	0.73442	.	.	ENSG00000009307	ENST00000339438;ENST00000438362;ENST00000358528;ENST00000261443;ENST00000530886;ENST00000369530;ENST00000534699	.	.	.	6.17	5.26	0.73747	Cold shock protein (1);Nucleic acid-binding, OB-fold-like (1);Cold-shock protein, DNA-binding (1);Nucleic acid-binding, OB-fold (1);	0.092767	0.85682	D	0.000000	T	0.62319	0.2418	M	0.87328	2.875	0.80722	D	1	B;B;B	0.18863	0.031;0.003;0.003	B;B;B	0.12837	0.008;0.005;0.003	T	0.68150	-0.5485	9	0.87932	D	0	-1.1453	15.7894	0.78343	0.065:0.0:0.935:0.0	.	741;726;772	E9PGZ0;O75534;G5E9Q2	.;CSDE1_HUMAN;.	C	695;772;726;695;596;741;726	.	ENSP00000261443:R695C	R	-	1	0	CSDE1	115063763	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.405000	0.97313	1.626000	0.50381	0.655000	0.94253	CGC		0.453	CSDE1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033397.1	NM_007158		7	101	0	0	0	0.307466	0	7	101					A	115262240	G	A	115262240	3	1	95	1	0	0	0	0	1	0	0	0	3929	1087	38	1	232	1	CSDE1	1	115262240	Missense_Mutation	SNP	G	TCGA-EJ-7783-01A-11D-2114-08	5458481	115262240	133988381	6	5331											
KIAA1614	57710	broad.mit.edu	37	chr1	180885314	180885314	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccaagacagggagtggaacAgccagccccgtggaggggac	11	2	16	12	1	0	1	0	0	0	1	0	5	0	5	4	5	3	0	4	5	2	0			TCGA-EJ-7783-01A-11D-2114-08	TCGA-EJ-7783-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9221a776-a241-48a2-b486-98902a8628f8	2ef588a2-879b-49c7-b880-227f72467804	g.chr1:180885314A>G	ENST00000367588.4	+	2	130	c.75A>G	c.(73-75)acA>acG	p.T25T		NM_020950.1	NP_066001.1	Q5VZ46	K1614_HUMAN	KIAA1614	25										NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	33						GGAGTGGAACAGCCAGCCCCG	0.617																																						ENST00000367588.4																			0				NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	33						c.(73-75)acA>acG		KIAA1614							23	27	26					1																	180885314		1914	4118	6032	SO:0001819	synonymous_variant	57710							g.chr1:180885314A>G	AB046834	CCDS41442.1	1q25.3	2008-02-05			ENSG00000135835	ENSG00000135835			29327	protein-coding gene	gene with protein product							Standard	NM_020950		Approved		uc001gok.2	Q5VZ46	OTTHUMG00000035183	ENST00000367588.4:c.75A>G	1.37:g.180885314A>G							p.T25T	NM_020950.1	NP_066001.1	Q5VZ46	K1614_HUMAN			2	130	+			25					Q5VZ45|Q9HCF8	Silent	SNP	ENST00000367588.4	37	c.75A>G	CCDS41442.1																																																																																				0.617	KIAA1614-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000085151.1	XM_046531		11	52	0	0	0	0.435327	0	11	52					G	180885314	A	G	180885314	2	3	95	1	0	0	0	0	0	0	0	1	8248	175	7	4		4	KIAA1614	1	180885314	Silent	SNP	A	TCGA-EJ-7783-01A-11D-2114-08	65623074	180885314	68365307	7	5332											
ZFP36L2	678	broad.mit.edu	37	chr2	43451740	43451742	+	In_Frame_Del	DEL	CTG	CTG	-																															tgcgcggggggcgccaggccCtgctgctgctgctgctgctg																										TCGA-EJ-7783-01A-11D-2114-08	TCGA-EJ-7783-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9221a776-a241-48a2-b486-98902a8628f8	c95e112d-dcf8-4bf7-b49b-bedc196d7cbf	g.chr2:43451740_43451742delCTG	ENST00000282388.3	-	2	1494_1496	c.1201_1203delCAG	c.(1201-1203)cagdel	p.Q401del	THADA_ENST00000330266.7_Intron	NM_006887.4	NP_008818.3	P47974	TISD_HUMAN	ZFP36 ring finger protein-like 2	401	Poly-Gln.				cell proliferation (GO:0008283)|definitive hemopoiesis (GO:0060216)|hemopoiesis (GO:0030097)|mRNA catabolic process (GO:0006402)|negative regulation of stem cell differentiation (GO:2000737)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|regulation of mRNA stability (GO:0043488)|regulation of transcription, DNA-templated (GO:0006355)|somatic stem cell division (GO:0048103)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	AU-rich element binding (GO:0017091)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|mRNA 3'-UTR AU-rich region binding (GO:0035925)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	15		Acute lymphoblastic leukemia(82;0.00323)|all_hematologic(82;0.00824)				gcgccaggccctgctgctgctgc	0.764																																						ENST00000282388.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	15						c.(1201-1203)del		ZFP36 ring finger protein-like 2				5,1,155,3111		0,0,0,5,0,0,1,34,87,1509						0.7	1			4	81,23,410,6270		16,1,1,47,2,0,18,47,315,2945	no	codingComplex	ZFP36L2	NM_006887.4		16,1,1,52,2,0,19,81,402,4454	A1A1,A1A2,A1A3,A1R,A2A2,A2A3,A2R,A3A3,A3R,RR		7.5767,4.9205,6.7124				86,24,565,9381				SO:0001651	inframe_deletion	678				cell proliferation	nucleus	DNA binding|RNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr2:43451740_43451742delCTG	X78992	CCDS1811.1	2p22.3-p21	2012-11-27	2012-11-27	2001-11-23	ENSG00000152518	ENSG00000152518		"RING-type (C3HC4) zinc fingers"	1108	protein-coding gene	gene with protein product		612053	"zinc finger protein 36, C3H type-like 1", "zinc finger protein 36, C3H type-like 2"	BRF2		7835719, 8545129, 14981510, 17172869	Standard	NM_006887		Approved	ERF2, RNF162C, TIS11D	uc002rsv.4	P47974	OTTHUMG00000128642	ENST00000282388.3:c.1201_1203delCAG	2.37:g.43451749_43451751delCTG	ENSP00000282388:p.Gln401del					THADA_ENST00000330266.7_Intron	p.Q401del	NM_006887.4	NP_008818.3	P47974	TISD_HUMAN			2	1494_1496	-		Acute lymphoblastic leukemia(82;0.00323)|all_hematologic(82;0.00824)	401			Poly-Gln.		Q53TB4|Q9BSJ3	In_Frame_Del	DEL	ENST00000282388.3	37	c.1201_1203delCAG	CCDS1811.1																																																																																				0.764	ZFP36L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250513.2	NM_006887		3	6						3	6	---	---	---	---	-	43451742	CTG	-	43451740	7	5	95	1	0	1	0	1	0	0	0	0	17644	680	24	0	285	0	ZFP36L2	2	43451740	In_Frame_Del	DEL	CTG	TCGA-EJ-7783-01A-11D-2114-08		43451740	199747633	8	5333											
BCL6	604	broad.mit.edu	37	chr3	187447232	187447232	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acccttccggttcaggggtgCattggggggctcgaaatgca	7	9	15	10	2	1	0	1	0	0	0	3	1	2	0	2	6	2	4	2	6	1	3			TCGA-EJ-7783-01A-11D-2114-08	TCGA-EJ-7783-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9221a776-a241-48a2-b486-98902a8628f8	2ef588a2-879b-49c7-b880-227f72467804	g.chr3:187447232C>T	ENST00000406870.2	-	5	1327	c.961G>A	c.(961-963)Gca>Aca	p.A321T	RP11-211G3.3_ENST00000437407.1_Intron|BCL6_ENST00000232014.4_Missense_Mutation_p.A321T|BCL6_ENST00000450123.2_Missense_Mutation_p.A321T|RP11-211G3.3_ENST00000449623.1_Intron	NM_001706.4	NP_001697.2	P41182	BCL6_HUMAN	B-cell CLL/lymphoma 6	321					actin cytoskeleton organization (GO:0030036)|B cell differentiation (GO:0030183)|cell morphogenesis (GO:0000902)|cellular response to DNA damage stimulus (GO:0006974)|erythrocyte development (GO:0048821)|germinal center formation (GO:0002467)|inflammatory response (GO:0006954)|negative regulation of B cell apoptotic process (GO:0002903)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of isotype switching to IgE isotypes (GO:0048294)|negative regulation of mast cell cytokine production (GO:0032764)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of T-helper 2 cell differentiation (GO:0045629)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of type 2 immune response (GO:0002829)|positive regulation of apoptotic process (GO:0043065)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cellular component movement (GO:0051272)|protein import into nucleus, translocation (GO:0000060)|regulation of germinal center formation (GO:0002634)|regulation of immune response (GO:0050776)|regulation of inflammatory response (GO:0050727)|regulation of memory T cell differentiation (GO:0043380)|regulation of Rho GTPase activity (GO:0032319)|Rho protein signal transduction (GO:0007266)|spermatogenesis (GO:0007283)|type 2 immune response (GO:0042092)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|metal ion binding (GO:0046872)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(9)|lung(10)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	40	all_cancers(143;9.45e-12)|Ovarian(172;0.0418)		OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.0141)		TTCAGGGGTGCATTGGGGGGC	0.572			"T, Mis"	"IG loci, ZNFN1A1, LCP1, PIM1, TFRC, CIITA, NACA, HSPCB, HSPCA, HIST1H4I, IL21R,  POU2AF1, ARHH, EIF4A2, SFRS3"	"NHL, CLL"																																	ENST00000406870.2				Dom	yes		3	3q27	604	"T, Mis"	B-cell CLL/lymphoma 6			L	"IG loci, ZNFN1A1, LCP1, PIM1, TFRC, CIITA, NACA, HSPCB, HSPCA, HIST1H4I, IL21R,  POU2AF1, ARHH, EIF4A2, SFRS3"		"NHL, CLL"		0				central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(9)|lung(10)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	40						c.(961-963)Gca>Aca		B-cell CLL/lymphoma 6							86	101	96					3																	187447232		2203	4300	6503	SO:0001583	missense	604				negative regulation of B cell apoptosis|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|protein import into nucleus, translocation|regulation of germinal center formation|response to DNA damage stimulus	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr3:187447232C>T		CCDS3289.1, CCDS46975.1	3q27	2013-01-09	2008-08-01		ENSG00000113916	ENSG00000113916		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	1001	protein-coding gene	gene with protein product		109565	"zinc finger protein 51"	ZNF51			Standard	NM_001130845		Approved	ZBTB27, LAZ3, BCL5, BCL6A	uc003frq.2	P41182	OTTHUMG00000156441	ENST00000406870.2:c.961G>A	3.37:g.187447232C>T	ENSP00000384371:p.Ala321Thr					RP11-211G3.3_ENST00000449623.1_Intron|RP11-211G3.3_ENST00000437407.1_Intron|BCL6_ENST00000450123.2_Missense_Mutation_p.A321T|BCL6_ENST00000232014.4_Missense_Mutation_p.A321T	p.A321T	NM_001706.4	NP_001697.2	P41182	BCL6_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.0141)	5	1327	-	all_cancers(143;9.45e-12)|Ovarian(172;0.0418)		321					A7E241|B8PSA7|D3DNV5	Missense_Mutation	SNP	ENST00000406870.2	37	c.961G>A	CCDS3289.1	.	.	.	.	.	.	.	.	.	.	C	8.337	0.827834	0.16749	.	.	ENSG00000113916	ENST00000406870;ENST00000232014;ENST00000450123	T;T;T	0.07567	3.18;3.18;3.19	5.48	5.48	0.80851	.	0.097709	0.64402	D	0.000001	T	0.03871	0.0109	N	0.08118	0	0.33969	D	0.646595	B;B	0.13145	0.005;0.007	B;B	0.12156	0.003;0.007	T	0.38001	-0.9681	10	0.15066	T	0.55	.	7.0909	0.25283	0.1732:0.7373:0.0:0.0895	.	321;321	B8PSA7;P41182	.;BCL6_HUMAN	T	321	ENSP00000384371:A321T;ENSP00000232014:A321T;ENSP00000413122:A321T	ENSP00000232014:A321T	A	-	1	0	BCL6	188929926	1.000000	0.71417	0.992000	0.48379	0.980000	0.70556	2.804000	0.47931	2.747000	0.94245	0.462000	0.41574	GCA		0.572	BCL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344202.1	NM_138931		8	131	0	0	0	0.307466	0	8	131					T	187447232	C	T	187447232	3	4	95	1	0	0	0	0	1	0	0	0	1376	710	25	3	1183	3	BCL6	3	187447232	Missense_Mutation	SNP	C	TCGA-EJ-7783-01A-11D-2114-08		187447232	10575198	9	5334											
TMEM192	201931	broad.mit.edu	37	chr4	166009709	166009709	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gatacaatctgccaggctctGggaaggagtgctgcatgcac	10	8	13	10	0	2	0	0	0	2	0	2	3	2	2	1	3	5	4	1	3	3	1			TCGA-EJ-7783-01A-11D-2114-08	TCGA-EJ-7783-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9221a776-a241-48a2-b486-98902a8628f8	2ef588a2-879b-49c7-b880-227f72467804	g.chr4:166009709G>A	ENST00000306480.6	-	4	630	c.485C>T	c.(484-486)cCa>cTa	p.P162L	TMEM192_ENST00000506087.1_Missense_Mutation_p.P158L	NM_001100389.1	NP_001093859.1	Q8IY95	TM192_HUMAN	transmembrane protein 192	162						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|perinuclear region of cytoplasm (GO:0048471)	protein homodimerization activity (GO:0042803)			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|prostate(1)|skin(1)	7	all_hematologic(180;0.221)	Prostate(90;0.0959)|Melanoma(52;0.18)		GBM - Glioblastoma multiforme(119;0.0926)		GCCAGGCTCTGGGAAGGAGTG	0.453																																						ENST00000306480.5																			0				NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|prostate(1)|skin(1)	7						c.(484-486)cCa>cTa		transmembrane protein 192							96	98	97					4																	166009709		2017	4192	6209	SO:0001583	missense	201931					Golgi apparatus|integral to membrane|late endosome|lysosomal membrane|nucleus		g.chr4:166009709G>A	BC036301	CCDS43279.1	4q32.3	2008-04-22			ENSG00000170088	ENSG00000170088			26775	protein-coding gene	gene with protein product						12477932	Standard	NM_001100389		Approved	FLJ38482	uc003iqz.4	Q8IY95	OTTHUMG00000161254	ENST00000306480.6:c.485C>T	4.37:g.166009709G>A	ENSP00000305069:p.Pro162Leu					TMEM192_ENST00000506087.1_Missense_Mutation_p.P158L	p.P162L	NM_001100389.1	NP_001093859.1	Q8IY95	TM192_HUMAN		GBM - Glioblastoma multiforme(119;0.0926)	4	630	-	all_hematologic(180;0.221)	Prostate(90;0.0959)|Melanoma(52;0.18)	162					Q7Z3A1|Q8N928	Missense_Mutation	SNP	ENST00000306480.6	37	c.485C>T	CCDS43279.1	.	.	.	.	.	.	.	.	.	.	G	17.22	3.333377	0.60853	.	.	ENSG00000170088	ENST00000306480;ENST00000506087;ENST00000505095	.	.	.	5.43	5.43	0.79202	.	0.118367	0.64402	D	0.000019	T	0.77405	0.4125	M	0.73598	2.24	0.50813	D	0.999894	D	0.67145	0.996	P	0.62089	0.898	T	0.76958	-0.2766	9	0.44086	T	0.13	-38.6905	18.1655	0.89724	0.0:0.0:1.0:0.0	.	162	Q8IY95	TM192_HUMAN	L	162;158;21	.	ENSP00000305069:P162L	P	-	2	0	TMEM192	166229159	1.000000	0.71417	0.926000	0.36857	0.008000	0.06430	5.627000	0.67784	2.708000	0.92522	0.655000	0.94253	CCA		0.453	TMEM192-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364310.3	NM_152681		4	27	0	0	0	0.217242	0	4	27					A	166009709	G	A	166009709	3	1	95	1	0	0	0	0	1	0	0	0	16112	1348	47	3	342	3	TMEM192	4	166009709	Missense_Mutation	SNP	G	TCGA-EJ-7783-01A-11D-2114-08		166009709	25144567	10	5335											
TTC37	9652	broad.mit.edu	37	chr5	94848278	94848278	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tctctgttgcttttatcttgCaatgttgtgcagacccaata	8	17	7	9	0	2	1	0	0	2	1	3	1	2	1	1	0	3	5	1	0	4	6			TCGA-EJ-7783-01A-11D-2114-08	TCGA-EJ-7783-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9221a776-a241-48a2-b486-98902a8628f8	2ef588a2-879b-49c7-b880-227f72467804	g.chr5:94848278C>T	ENST00000358746.2	-	28	3121	c.2823G>A	c.(2821-2823)ttG>ttA	p.L941L	TTC37_ENST00000515176.1_5'UTR	NM_014639.3	NP_055454.1	Q6PGP7	TTC37_HUMAN	tetratricopeptide repeat domain 37	941						cytoplasm (GO:0005737)|nucleus (GO:0005634)|Ski complex (GO:0055087)|transcriptionally active chromatin (GO:0035327)				breast(2)|endometrium(6)|kidney(3)|large_intestine(13)|liver(1)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	47						TTTTATCTTGCAATGTTGTGC	0.358																																						ENST00000358746.2																			0				breast(2)|endometrium(6)|kidney(3)|large_intestine(13)|liver(1)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	47						c.(2821-2823)ttG>ttA		tetratricopeptide repeat domain 37							186	156	166					5																	94848278		2203	4300	6503	SO:0001819	synonymous_variant	9652						binding	g.chr5:94848278C>T	AB002370	CCDS4072.1	5q15	2014-09-17	2008-06-11	2008-06-11	ENSG00000198677	ENSG00000198677		"Tetratricopeptide (TTC) repeat domain containing"	23639	protein-coding gene	gene with protein product		614589	"KIAA0372"	KIAA0372		9205841	Standard	NM_014639		Approved		uc003klb.3	Q6PGP7	OTTHUMG00000121165	ENST00000358746.2:c.2823G>A	5.37:g.94848278C>T						TTC37_ENST00000515176.1_5'UTR	p.L941L	NM_014639.3	NP_055454.1	Q6PGP7	TTC37_HUMAN			28	3121	-			941					O15077|Q6PJI3	Silent	SNP	ENST00000358746.2	37	c.2823G>A	CCDS4072.1																																																																																				0.358	TTC37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241651.1	NM_014639		12	84	0	0	0	0.479597	0	12	84					T	94848278	C	T	94848278	2	4	95	1	0	0	0	0	0	0	0	1	16702	709	25	3		3	TTC37	5	94848278	Silent	SNP	C	TCGA-EJ-7783-01A-11D-2114-08		94848278	86066982	11	5336											
ADAMTS19	171019	broad.mit.edu	37	chr5	129037257	129037257	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tgagggccaggactgcatgaCcgtgtgggaggcgggagtgt	7	7	20	7	2	0	2	0	2	0	0	0	5	0	5	2	5	1	1	2	5	0	0			TCGA-EJ-7783-01A-11D-2114-08	TCGA-EJ-7783-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9221a776-a241-48a2-b486-98902a8628f8	2ef588a2-879b-49c7-b880-227f72467804	g.chr5:129037257C>A	ENST00000274487.4	+	20	3258	c.3113C>A	c.(3112-3114)aCc>aAc	p.T1038N	CTC-575N7.1_ENST00000503616.1_RNA|ADAMTS19_ENST00000509467.1_3'UTR	NM_133638.3	NP_598377.3	Q8TE59	ATS19_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 19	1038						proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)		GACTGCATGACCGTGTGGGAG	0.567																																						ENST00000274487.4																			0				NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91						c.(3112-3114)aCc>aAc		ADAM metallopeptidase with thrombospondin type 1 motif, 19							75	69	71					5																	129037257		2203	4300	6503	SO:0001583	missense	171019				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:129037257C>A	AJ311904	CCDS4146.1	5q23.3	2009-04-27	2005-08-19		ENSG00000145808	ENSG00000145808		"ADAM metallopeptidases with thrombospondin type 1 motif"	17111	protein-coding gene	gene with protein product		607513	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 19"			11867212	Standard	NM_133638		Approved		uc003kvb.1	Q8TE59	OTTHUMG00000128990	ENST00000274487.4:c.3113C>A	5.37:g.129037257C>A	ENSP00000274487:p.Thr1038Asn					CTC-575N7.1_ENST00000503616.1_RNA|ADAMTS19_ENST00000509467.1_3'UTR	p.T1038N	NM_133638.3	NP_598377.3	Q8TE59	ATS19_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)	20	3258	+		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	1038						Missense_Mutation	SNP	ENST00000274487.4	37	c.3113C>A	CCDS4146.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.046707	0.75846	.	.	ENSG00000145808	ENST00000274487	T	0.18338	2.22	4.0	4.0	0.46444	.	0.000000	0.64402	D	0.000006	T	0.18551	0.0445	L	0.38175	1.15	0.58432	D	0.999996	P	0.44627	0.839	P	0.44394	0.448	T	0.02925	-1.1093	9	.	.	.	.	17.4141	0.87495	0.0:1.0:0.0:0.0	.	1038	Q8TE59	ATS19_HUMAN	N	1038	ENSP00000274487:T1038N	.	T	+	2	0	ADAMTS19	129065156	1.000000	0.71417	0.955000	0.39395	0.996000	0.88848	5.891000	0.69782	2.526000	0.85167	0.650000	0.86243	ACC		0.567	ADAMTS19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250979.2	NM_133638		14	85	1	0	2.4624e-09	0.575678	2.93593e-09	14	85					A	129037257	C	A	129037257	3	1	95	1	0	0	0	0	1	0	0	0	264	507	18	5	3191	5	ADAMTS19	5	129037257	Missense_Mutation	SNP	C	TCGA-EJ-7783-01A-11D-2114-08	34188979	129037257	51878003	12	5337											
SLC22A4	6583	broad.mit.edu	37	chr5	131630515	131630515	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgcaacaacagtgtcccgcTgcggctgcgggacggccgcg	6	4	16	15	7	0	0	0	0	0	0	1	1	1	1	2	3	4	3	2	3	2	0			TCGA-EJ-7783-01A-11D-2114-08	TCGA-EJ-7783-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9221a776-a241-48a2-b486-98902a8628f8	2ef588a2-879b-49c7-b880-227f72467804	g.chr5:131630515T>A	ENST00000200652.3	+	1	380	c.206T>A	c.(205-207)cTg>cAg	p.L69Q	P4HA2_ENST00000471826.1_Intron	NM_003059.2	NP_003050.2	Q9H015	S22A4_HUMAN	solute carrier family 22 (organic cation/zwitterion transporter), member 4	69					body fluid secretion (GO:0007589)|carnitine metabolic process (GO:0009437)|carnitine transmembrane transport (GO:1902603)|carnitine transport (GO:0015879)|cation transmembrane transport (GO:0098655)|organic cation transport (GO:0015695)|quaternary ammonium group transport (GO:0015697)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|triglyceride metabolic process (GO:0006641)	apical plasma membrane (GO:0016324)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|carnitine transmembrane transporter activity (GO:0015226)|cation:cation antiporter activity (GO:0015491)|nucleotide binding (GO:0000166)|PDZ domain binding (GO:0030165)|quaternary ammonium group transmembrane transporter activity (GO:0015651)|secondary active organic cation transmembrane transporter activity (GO:0008513)|symporter activity (GO:0015293)			endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|urinary_tract(1)	16		all_cancers(142;0.0752)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		Amiloride(DB00594)|Aminohippurate(DB00345)|Benzylpenicillin(DB01053)|Choline(DB00122)|Cimetidine(DB00501)|Clonidine(DB00575)|Desipramine(DB01151)|Guanidine(DB00536)|Imipramine(DB00458)|Ipratropium bromide(DB00332)|L-Arginine(DB00125)|L-Carnitine(DB00583)|L-Lysine(DB00123)|Levofloxacin(DB01137)|Mepyramine(DB06691)|Nicotine(DB00184)|Ofloxacin(DB01165)|Procainamide(DB01035)|Quinidine(DB00908)|Quinine(DB00468)|Spermine(DB00127)|Testosterone(DB00624)|Tiotropium(DB01409)|Verapamil(DB00661)	AGTGTCCCGCTGCGGCTGCGG	0.726																																						ENST00000200652.3																			0				endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|urinary_tract(1)	16						c.(205-207)cTg>cAg		solute carrier family 22 (organic cation/zwitterion transporter), member 4	L-Carnitine(DB00583)						16	21	19					5																	131630515		2198	4286	6484	SO:0001583	missense	6583				body fluid secretion|sodium ion transport	apical plasma membrane|integral to plasma membrane|mitochondrion	ATP binding|carnitine transporter activity|cation:cation antiporter activity|PDZ domain binding|secondary active organic cation transmembrane transporter activity|symporter activity	g.chr5:131630515T>A	AB007448	CCDS4153.1	5q23.3	2013-07-18	2013-07-18		ENSG00000197208	ENSG00000197208		"Solute carriers"	10968	protein-coding gene	gene with protein product		604190	"solute carrier family 22 (organic cation/ergothioneine transporter), member 4"			9426230, 15795384	Standard	NM_003059		Approved	OCTN1, MGC34546	uc003kwq.3	Q9H015	OTTHUMG00000059648	ENST00000200652.3:c.206T>A	5.37:g.131630515T>A	ENSP00000200652:p.Leu69Gln					P4HA2_ENST00000471826.1_Intron	p.L69Q	NM_003059.2	NP_003050.2	Q9H015	S22A4_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		1	380	+		all_cancers(142;0.0752)|Breast(839;0.198)	69					O14546	Missense_Mutation	SNP	ENST00000200652.3	37	c.206T>A	CCDS4153.1	.	.	.	.	.	.	.	.	.	.	T	13.45	2.240128	0.39598	.	.	ENSG00000197208	ENST00000200652	T	0.75938	-0.98	4.54	3.33	0.38152	Major facilitator superfamily domain, general substrate transporter (1);	0.770532	0.11770	N	0.531169	T	0.70692	0.3253	M	0.69463	2.115	0.22762	N	0.998766	B	0.22683	0.073	B	0.22601	0.04	T	0.57768	-0.7754	10	0.27785	T	0.31	.	10.1861	0.42998	0.0:0.0:0.1672:0.8328	.	69	Q9H015	S22A4_HUMAN	Q	69	ENSP00000200652:L69Q	ENSP00000200652:L69Q	L	+	2	0	SLC22A4	131658414	0.006000	0.16342	0.812000	0.32479	0.976000	0.68499	0.009000	0.13219	0.831000	0.34780	0.459000	0.35465	CTG		0.726	SLC22A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132661.1	NM_003059		8	15	0	0	0	0.361761	0	8	15					A	131630515	T	A	131630515	3	1	95	1	0	0	0	0	1	0	0	0	14456	1580	55	5	208	5	SLC22A4	5	131630515	Missense_Mutation	SNP	T	TCGA-EJ-7783-01A-11D-2114-08	2593258	131630515	49284745	13	5338											
PCDHA6	56142	broad.mit.edu	37	chr5	140208013	140208013	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tggaggtgatcgtggacaggCcgctgcaggttttccatgtg	6	11	16	8	2	0	1	0	1	0	0	2	3	1	3	2	5	1	3	2	5	0	2			TCGA-EJ-7783-01A-11D-2114-08	TCGA-EJ-7783-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9221a776-a241-48a2-b486-98902a8628f8	2ef588a2-879b-49c7-b880-227f72467804	g.chr5:140208013C>A	ENST00000529310.1	+	1	451	c.337C>A	c.(337-339)Ccg>Acg	p.P113T	PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000527624.1_Missense_Mutation_p.P113T|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529619.1_Intron	NM_018909.2|NM_031848.2|NM_031849.1	NP_061732.1|NP_114036.1|NP_114037.1	Q9UN73	PCDA6_HUMAN	protocadherin alpha 6	113	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	89			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGTGGACAGGCCGCTGCAGGT	0.562																																						ENST00000529310.1																			0				NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						c.(337-339)Ccg>Acg									112	123	120					5																	140208013		2203	4298	6501	SO:0001583	missense	0							g.chr5:140208013C>A	AF152484	CCDS47281.1, CCDS47282.1	5q31	2010-11-26			ENSG00000081842	ENSG00000081842		"Cadherins / Protocadherins : Clustered"	8672	other	complex locus constituent	"KIAA0345-like 8"	606312		CNRS2		10380929, 10662547	Standard	NM_018909		Approved	CNR2, CRNR2, PCDH-ALPHA6		Q9UN73	OTTHUMG00000163353	ENST00000529310.1:c.337C>A	5.37:g.140208013C>A	ENSP00000433378:p.Pro113Thr					PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000527624.1_Missense_Mutation_p.P113T|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron	p.P113T	NM_018909.2|NM_031848.1|NM_031849.1	NP_061732.1|NP_114036.1|NP_114037.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	451	+								O75283|Q9NRT8	Missense_Mutation	SNP	ENST00000529310.1	37	c.337C>A	CCDS47281.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.028464	0.75390	.	.	ENSG00000081842	ENST00000529310;ENST00000527624	T;T	0.56103	0.58;0.48	3.87	3.87	0.44632	Cadherin (3);Cadherin-like (1);	0.000000	0.36591	U	0.002518	T	0.78923	0.4360	M	0.93939	3.475	0.43793	D	0.996339	D;D;D	0.89917	1.0;1.0;0.993	D;D;D	0.80764	0.994;0.993;0.955	D	0.85512	0.1198	10	0.62326	D	0.03	.	16.3488	0.83191	0.0:1.0:0.0:0.0	.	113;113;113	Q9UN73-3;Q9UN73;Q9UN73-2	.;PCDA6_HUMAN;.	T	113	ENSP00000433378:P113T;ENSP00000434113:P113T	ENSP00000434113:P113T	P	+	1	0	PCDHA6	140188197	0.998000	0.40836	0.998000	0.56505	0.967000	0.64934	4.743000	0.62110	2.139000	0.66308	0.313000	0.20887	CCG		0.562	PCDHA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372829.3	NM_018909		22	218	1	0	1.17739e-12	0.693898	1.43134e-12	22	218					A	140208013	C	A	140208013	3	1	95	1	0	0	0	0	1	0	0	0	11528	739	26	5	339	5	PCDHA6	5	140208013	Missense_Mutation	SNP	C	TCGA-EJ-7783-01A-11D-2114-08	8577498	140208013	40707247	14	5339											
PCDHB4	56131	broad.mit.edu	37	chr5	140501672	140501672	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggttcgcctcgagcctattcGttattctgtgttggaggaaa	7	14	12	8	3	1	0	0	0	1	0	4	3	1	2	2	3	1	3	2	3	3	6			TCGA-EJ-7783-01A-11D-2114-08	TCGA-EJ-7783-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9221a776-a241-48a2-b486-98902a8628f8	2ef588a2-879b-49c7-b880-227f72467804	g.chr5:140501672G>A	ENST00000194152.1	+	1	92	c.92G>A	c.(91-93)cGt>cAt	p.R31H	AC005754.8_ENST00000606030.1_lincRNA	NM_018938.2	NP_061761.1	Q9Y5E5	PCDB4_HUMAN	protocadherin beta 4	31					calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	67			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GAGCCTATTCGTTATTCTGTG	0.527																																						ENST00000194152.1																			0				autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	67						c.(91-93)cGt>cAt									107	107	107					5																	140501672		2203	4300	6503	SO:0001583	missense	0				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton	calcium ion binding	g.chr5:140501672G>A	AF152497	CCDS4246.1	5q31	2010-01-26			ENSG00000081818	ENSG00000081818		"Cadherins / Protocadherins : Clustered"	8689	other	protocadherin		606330				10380929	Standard	NM_018938		Approved	PCDH-BETA4	uc003lip.1	Q9Y5E5	OTTHUMG00000129617	ENST00000194152.1:c.92G>A	5.37:g.140501672G>A	ENSP00000194152:p.Arg31His						p.R31H	NM_018938.2	NP_061761.1	Q9Y5E5	PCDB4_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	92	+			31					Q4V761	Missense_Mutation	SNP	ENST00000194152.1	37	c.92G>A	CCDS4246.1	.	.	.	.	.	.	.	.	.	.	G	10.47	1.358646	0.24598	.	.	ENSG00000081818	ENST00000194152	T	0.31769	1.48	4.66	0.841	0.18918	Cadherin, N-terminal (1);Cadherin-like (1);	.	.	.	.	T	0.28001	0.0690	L	0.55743	1.74	0.33212	D	0.553564	B	0.22800	0.075	B	0.27715	0.082	T	0.30794	-0.9966	9	0.44086	T	0.13	.	8.447	0.32847	0.4859:0.0:0.5141:0.0	.	31	Q9Y5E5	PCDB4_HUMAN	H	31	ENSP00000194152:R31H	ENSP00000194152:R31H	R	+	2	0	PCDHB4	140481856	0.000000	0.05858	0.958000	0.39756	0.941000	0.58515	0.059000	0.14322	0.274000	0.22072	0.655000	0.94253	CGT		0.527	PCDHB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251812.2	NM_018938		5	73	0	0	0	0.217242	0	5	73					A	140501672	G	A	140501672	3	1	95	1	0	0	0	0	1	0	0	0	11544	1145	40	1	94	1	PCDHB4	5	140501672	Missense_Mutation	SNP	G	TCGA-EJ-7783-01A-11D-2114-08	293659	140501672	40413588	15	5340											
TCOF1	6949	broad.mit.edu	37	chr5	149755039	149755039	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcccaggtggggaagtgggaGgaggactcagagagcagtag	11	4	20	6	0	1	1	1	0	0	1	1	6	1	5	1	6	1	2	1	6	2	1			TCGA-EJ-7783-01A-11D-2114-08	TCGA-EJ-7783-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9221a776-a241-48a2-b486-98902a8628f8	2ef588a2-879b-49c7-b880-227f72467804	g.chr5:149755039G>A	ENST00000504761.2	+	11	1626	c.1626G>A	c.(1624-1626)gaG>gaA	p.E542E	TCOF1_ENST00000439160.2_Silent_p.E542E|TCOF1_ENST00000394269.3_Silent_p.E542E|TCOF1_ENST00000451292.1_Silent_p.E542E|TCOF1_ENST00000445265.2_Silent_p.E465E|TCOF1_ENST00000323668.7_Silent_p.E465E|TCOF1_ENST00000377797.3_Silent_p.E542E|TCOF1_ENST00000513346.1_Silent_p.E542E			Q13428	TCOF_HUMAN	Treacher Collins-Franceschetti syndrome 1	542					skeletal system development (GO:0001501)|transcription of nuclear large rRNA transcript from RNA polymerase I promoter (GO:0042790)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|transporter activity (GO:0005215)			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	35		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GGAAGTGGGAGGAGGACTCAG	0.662																																						ENST00000451292.1																			0				NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	35						c.(1624-1626)gaG>gaA		Treacher Collins-Franceschetti syndrome 1							51	53	52					5																	149755039		2203	4300	6503	SO:0001819	synonymous_variant	6949				skeletal system development	nucleolus	protein binding|transporter activity	g.chr5:149755039G>A		CCDS4306.1, CCDS47305.1, CCDS47306.1, CCDS47307.1, CCDS54936.1	5q32	2014-06-18			ENSG00000070814	ENSG00000070814			11654	protein-coding gene	gene with protein product		606847				1765376	Standard	NM_001008657		Approved	treacle, TCS	uc003lry.3	Q13428	OTTHUMG00000130081	ENST00000504761.2:c.1626G>A	5.37:g.149755039G>A						TCOF1_ENST00000439160.2_Silent_p.E542E|TCOF1_ENST00000394269.3_Silent_p.E542E|TCOF1_ENST00000377797.3_Silent_p.E542E|TCOF1_ENST00000445265.2_Silent_p.E465E|TCOF1_ENST00000323668.7_Silent_p.E465E|TCOF1_ENST00000504761.2_Silent_p.E542E|TCOF1_ENST00000513346.1_Silent_p.E542E	p.E542E			Q13428	TCOF_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		11	1734	+		all_hematologic(541;0.224)	542					A0JLU0|B4E111|Q6SC72|Q7Z5W9|Q96A52|Q99408|Q99860	Silent	SNP	ENST00000504761.2	37	c.1626G>A	CCDS54936.1																																																																																				0.662	TCOF1-014	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000380552.1	NM_001008656		9	45	0	0	0	0.361761	0	9	45					A	149755039	G	A	149755039	2	1	95	1	0	0	0	0	0	0	0	1	15705	991	35	3		3	TCOF1	5	149755039	Silent	SNP	G	TCGA-EJ-7783-01A-11D-2114-08	9253367	149755039	31160221	16	5341											
TRIM31	11074	broad.mit.edu	37	chr6	30071498	30071498	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtgactttcccagcagacgAggcccgaaacagggagtggg	11	5	15	10	2	0	2	0	1	0	1	1	5	1	3	2	3	2	1	2	3	1	1			TCGA-EJ-7783-01A-11D-2114-08	TCGA-EJ-7783-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9221a776-a241-48a2-b486-98902a8628f8	2ef588a2-879b-49c7-b880-227f72467804	g.chr6:30071498A>C	ENST00000376734.3	-	9	1218	c.1093T>G	c.(1093-1095)Tcg>Gcg	p.S365A	TRIM31_ENST00000485864.1_5'Flank|TRIM31-AS1_ENST00000440874.1_RNA|TRIM31_ENST00000540829.1_Missense_Mutation_p.S365A	NM_007028.3	NP_008959.3	Q9BZY9	TRI31_HUMAN	tripartite motif containing 31	365					innate immune response (GO:0045087)|negative regulation of viral entry into host cell (GO:0046597)|negative regulation of viral transcription (GO:0032897)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein ubiquitination (GO:0016567)|regulation of viral release from host cell (GO:1902186)	mitochondrion (GO:0005739)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|skin(2)	15						CCAGCAGACGAGGCCCGAAAC	0.527																																						ENST00000376734.3																			0				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|skin(2)	15						c.(1093-1095)Tcg>Gcg		tripartite motif containing 31							128	137	134					6																	30071498		1510	2709	4219	SO:0001583	missense	11074					mitochondrion	ligase activity|zinc ion binding	g.chr6:30071498A>C	AF230386	CCDS34374.1	6p21.3	2013-01-09	2011-01-25		ENSG00000204616	ENSG00000204616		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	16289	protein-coding gene	gene with protein product		609316	"tripartite motif-containing 31"			11331580	Standard	XM_006714977		Approved	RNF, HCGI, C6orf13, HCG1	uc003npg.1	Q9BZY9	OTTHUMG00000031064	ENST00000376734.3:c.1093T>G	6.37:g.30071498A>C	ENSP00000365924:p.Ser365Ala					TRIM31_ENST00000540829.1_Missense_Mutation_p.S365A	p.S365A	NM_007028.3	NP_008959.3	Q9BZY9	TRI31_HUMAN			9	1218	-			365					A6NLX6|A9R9Q4|Q53H52|Q5RI37|Q5SRJ7|Q5SRJ8|Q5SS28|Q96AK4|Q96AP8|Q99579|Q9BZY8	Missense_Mutation	SNP	ENST00000376734.3	37	c.1093T>G	CCDS34374.1	.	.	.	.	.	.	.	.	.	.	A	6.172	0.399963	0.11696	.	.	ENSG00000204616	ENST00000376734;ENST00000376728;ENST00000540829	T;T	0.66815	-0.23;-0.23	2.25	-2.05	0.07321	.	.	.	.	.	T	0.16854	0.0405	N	0.08118	0	0.09310	N	1	B	0.32409	0.37	B	0.35607	0.206	T	0.22138	-1.0225	9	0.18276	T	0.48	.	2.1743	0.03858	0.4426:0.0:0.317:0.2403	.	365	Q9BZY9	TRI31_HUMAN	A	365	ENSP00000365924:S365A;ENSP00000444311:S365A	ENSP00000365918:S365A	S	-	1	0	TRIM31	30179477	0.000000	0.05858	0.000000	0.03702	0.022000	0.10575	0.148000	0.16224	-0.480000	0.06803	0.472000	0.43445	TCG		0.527	TRIM31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076081.2			14	139	0	0	0	0.539581	0	14	139					C	30071498	A	C	30071498	3	2	95	1	0	0	0	0	1	0	0	0	16502	304	11	5	188	5	TRIM31	6	30071498	Missense_Mutation	SNP	A	TCGA-EJ-7783-01A-11D-2114-08		30071498	141043569	17	5342											
MAP3K5	4217	broad.mit.edu	37	chr6	136990479	136990479	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagctgccaggaggaggacCgcataattaattcctgactg	11	8	11	11	1	0	1	0	1	0	0	1	4	1	4	4	3	2	2	4	3	2	3			TCGA-EJ-7783-01A-11D-2114-08	TCGA-EJ-7783-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9221a776-a241-48a2-b486-98902a8628f8	2ef588a2-879b-49c7-b880-227f72467804	g.chr6:136990479C>A	ENST00000359015.4	-	8	1668	c.1308G>T	c.(1306-1308)gcG>gcT	p.A436A		NM_005923.3	NP_005914.1	Q99683	M3K5_HUMAN	mitogen-activated protein kinase kinase kinase 5	436					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of JUN kinase activity (GO:0007257)|activation of MAPKK activity (GO:0000186)|apoptotic signaling pathway (GO:0097190)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to reactive nitrogen species (GO:1902170)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|JNK cascade (GO:0007254)|MAPK cascade (GO:0000165)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of neuron death (GO:1901216)|programmed necrotic cell death (GO:0097300)|protein phosphorylation (GO:0006468)|response to ischemia (GO:0002931)|viral process (GO:0016032)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|protein kinase complex (GO:1902911)	ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|magnesium ion binding (GO:0000287)|MAP kinase kinase kinase activity (GO:0004709)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein phosphatase binding (GO:0019903)			NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(6)|large_intestine(6)|lung(24)|ovary(2)|prostate(1)|skin(4)|urinary_tract(4)	58	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00137)|OV - Ovarian serous cystadenocarcinoma(155;0.00569)		GGAGGAGGACCGCATAATTAA	0.378																																						ENST00000359015.4																			0				NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(6)|large_intestine(6)|lung(24)|ovary(2)|prostate(1)|skin(4)|urinary_tract(4)	58						c.(1306-1308)gcG>gcT		mitogen-activated protein kinase kinase kinase 5							146	153	151					6																	136990479		2203	4300	6503	SO:0001819	synonymous_variant	4217				activation of JUN kinase activity|activation of MAPKK activity|cellular response to hydrogen peroxide|induction of apoptosis by extracellular signals|interspecies interaction between organisms		ATP binding|caspase activator activity|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein phosphatase binding	g.chr6:136990479C>A	U67156	CCDS5179.1	6q22.33	2011-06-09			ENSG00000197442	ENSG00000197442		"Mitogen-activated protein kinase cascade / Kinase kinase kinases"	6857	protein-coding gene	gene with protein product	"apoptosis signal regulating kinase 1"	602448		MEKK5		9465908	Standard	NM_005923		Approved	MAPKKK5, ASK1	uc003qhc.3	Q99683	OTTHUMG00000015647	ENST00000359015.4:c.1308G>T	6.37:g.136990479C>A							p.A436A	NM_005923.3	NP_005914.1	Q99683	M3K5_HUMAN		GBM - Glioblastoma multiforme(68;0.00137)|OV - Ovarian serous cystadenocarcinoma(155;0.00569)	8	1668	-	Colorectal(23;0.24)		436					A6NIA0|B4DGB2|Q5THN3|Q99461	Silent	SNP	ENST00000359015.4	37	c.1308G>T	CCDS5179.1																																																																																				0.378	MAP3K5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042383.1			28	109	1	0	2.47511e-08	0.729181	2.84179e-08	28	109					A	136990479	C	A	136990479	2	1	95	1	0	0	0	0	0	0	0	1	9253	639	23	5		5	MAP3K5	6	136990479	Silent	SNP	C	TCGA-EJ-7783-01A-11D-2114-08	106918981	136990479	34124588	18	5343											
TBX20	57057	broad.mit.edu	37	chr7	35242247	35242247	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gagaaccctggatggggtgaGgaatgggtgttgctatggat	9	10	18	4	0	0	2	0	1	0	1	0	6	0	5	1	6	2	2	1	6	3	2			TCGA-EJ-7783-01A-11D-2114-08	TCGA-EJ-7783-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9221a776-a241-48a2-b486-98902a8628f8	2ef588a2-879b-49c7-b880-227f72467804	g.chr7:35242247G>A	ENST00000408931.3	-	8	1665	c.1139C>T	c.(1138-1140)cCt>cTt	p.P380L		NM_001077653.2|NM_001166220.1	NP_001071121.1|NP_001159692.1	Q9UMR3	TBX20_HUMAN	T-box 20	380					aortic valve morphogenesis (GO:0003180)|atrial septum morphogenesis (GO:0060413)|blood circulation (GO:0008015)|cardiac chamber formation (GO:0003207)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac right ventricle morphogenesis (GO:0003215)|cardiac septum development (GO:0003279)|cell proliferation (GO:0008283)|dorsal/ventral pattern formation (GO:0009953)|embryonic heart tube elongation (GO:0036306)|embryonic heart tube morphogenesis (GO:0003143)|endocardial cushion formation (GO:0003272)|endocardial cushion morphogenesis (GO:0003203)|endoderm formation (GO:0001706)|foramen ovale closure (GO:0035922)|heart looping (GO:0001947)|lateral mesoderm formation (GO:0048370)|muscle contraction (GO:0006936)|negative regulation of SMAD protein complex assembly (GO:0010991)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron migration (GO:0001764)|outflow tract septum morphogenesis (GO:0003148)|patterning of blood vessels (GO:0001569)|pericardium morphogenesis (GO:0003344)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|pulmonary valve formation (GO:0003193)|pulmonary vein morphogenesis (GO:0060577)|tricuspid valve development (GO:0003175)|visceral motor neuron differentiation (GO:0021524)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|lung(9)|prostate(1)|skin(1)|stomach(1)	18						GATGGGGTGAGGAATGGGTGT	0.562																																						ENST00000408931.3																			0				central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|lung(9)|prostate(1)|skin(1)|stomach(1)	18						c.(1138-1140)cCt>cTt		T-box 20							79	80	80					7																	35242247		1990	4164	6154	SO:0001583	missense	57057					nucleus	DNA binding	g.chr7:35242247G>A	AJ237589	CCDS43568.1	7p14.3	2014-09-17			ENSG00000164532	ENSG00000164532		"T-boxes"	11598	protein-coding gene	gene with protein product		606061				10936053	Standard	NM_001077653		Approved		uc011kas.2	Q9UMR3	OTTHUMG00000099411	ENST00000408931.3:c.1139C>T	7.37:g.35242247G>A	ENSP00000386170:p.Pro380Leu						p.P380L	NM_001077653.2|NM_001166220.1	NP_001071121.1|NP_001159692.1	Q9UMR3	TBX20_HUMAN			8	1665	-			380					A4D1Y6|Q000T4|Q0IJ70|Q0VAS1|Q9Y2N5	Missense_Mutation	SNP	ENST00000408931.3	37	c.1139C>T	CCDS43568.1	.	.	.	.	.	.	.	.	.	.	G	26.8	4.775571	0.90195	.	.	ENSG00000164532	ENST00000408931	D	0.88046	-2.33	5.46	5.46	0.80206	.	0.055617	0.64402	D	0.000001	T	0.81650	0.4867	L	0.27053	0.805	0.80722	D	1	B	0.27823	0.19	B	0.26310	0.068	T	0.77403	-0.2601	10	0.34782	T	0.22	.	19.3	0.94140	0.0:0.0:1.0:0.0	.	380	Q9UMR3	TBX20_HUMAN	L	380	ENSP00000386170:P380L	ENSP00000386170:P380L	P	-	2	0	TBX20	35208772	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.434000	0.97515	2.548000	0.85928	0.609000	0.83330	CCT		0.562	TBX20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216870.2	NM_020417		7	66	0	0	0	0.307466	0	7	66					A	35242247	G	A	35242247	3	1	95	1	0	0	0	0	1	0	0	0	15653	1000	35	3	207	3	TBX20	7	35242247	Missense_Mutation	SNP	G	TCGA-EJ-7783-01A-11D-2114-08		35242247	123896416	19	5344											
ABCA13	154664	broad.mit.edu	37	chr7	48390275	48390275	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agatgtttaaccatgcaggcGctggacgcttccgtttcttg	7	13	11	10	3	1	1	0	0	1	1	2	2	2	2	2	2	2	5	2	2	1	5	rs367666935		TCGA-EJ-7783-01A-11D-2114-08	TCGA-EJ-7783-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9221a776-a241-48a2-b486-98902a8628f8	2ef588a2-879b-49c7-b880-227f72467804	g.chr7:48390275G>A	ENST00000435803.1	+	30	10264	c.10240G>A	c.(10240-10242)Gct>Act	p.A3414T		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	3414					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)	p.A3359T(1)|p.A3414T(1)		breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						CCATGCAGGCGCTGGACGCTT	0.522																																						ENST00000435803.1																			2	Substitution - Missense(2)	p.A3359T(1)|p.A3414T(1)	breast(2)	breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						c.(10240-10242)Gct>Act		ATP-binding cassette, sub-family A (ABC1), member 13		G	THR/ALA	0,4104		0,0,2052	157	157	157		10240	2.8	0	7		157	1,8423		0,1,4211	no	missense	ABCA13	NM_152701.3	58	0,1,6263	AA,AG,GG		0.0119,0.0,0.0080	possibly-damaging	3414/5059	48390275	1,12527	2052	4212	6264	SO:0001583	missense	154664				transport	integral to membrane	ATP binding|ATPase activity	g.chr7:48390275G>A	AY204751	CCDS47584.1	7p12.3	2012-03-14			ENSG00000179869	ENSG00000179869		"ATP binding cassette transporters / subfamily A"	14638	protein-coding gene	gene with protein product		607807				12697998	Standard	NM_152701		Approved	FLJ33876, FLJ33951	uc003toq.2	Q86UQ4	OTTHUMG00000155840	ENST00000435803.1:c.10240G>A	7.37:g.48390275G>A	ENSP00000411096:p.Ala3414Thr						p.A3414T	NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN			30	10264	+			3414					K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Missense_Mutation	SNP	ENST00000435803.1	37	c.10240G>A	CCDS47584.1	.	.	.	.	.	.	.	.	.	.	G	13.97	2.394446	0.42410	0.0	1.19E-4	ENSG00000179869	ENST00000435803	D	0.85339	-1.97	4.66	2.82	0.32997	.	0.313704	0.22699	N	0.056706	T	0.81654	0.4868	L	0.46157	1.445	0.09310	N	1	P;D	0.56968	0.72;0.978	B;P	0.48270	0.079;0.572	T	0.73026	-0.4112	10	0.66056	D	0.02	.	6.8772	0.24153	0.3104:0.0:0.6896:0.0	.	1116;3414	Q86UQ4-3;Q86UQ4	.;ABCAD_HUMAN	T	3414	ENSP00000411096:A3414T	ENSP00000411096:A3414T	A	+	1	0	ABCA13	48360821	0.006000	0.16342	0.003000	0.11579	0.002000	0.02628	1.082000	0.30803	0.371000	0.24564	0.655000	0.94253	GCT		0.522	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341964.2	NM_152701		19	100	0	0	0	0.592651	0	19	100					A	48390275	G	A	48390275	3	1	95	1	0	0	0	0	1	0	0	0	31	1087	38	1	10187	1	ABCA13	7	48390275	Missense_Mutation	SNP	G	TCGA-EJ-7783-01A-11D-2114-08	13148028	48390275	110748388	20	5345											
TRYX3	136541	broad.mit.edu	37	chr7	141952337	141952337	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	acaatgcccacacacagcatAttttccgtgatgttgtaggt	11	12	8	10	1	0	1	0	1	0	0	1	1	1	1	2	1	2	3	2	1	3	5			TCGA-EJ-7783-01A-11D-2114-08	TCGA-EJ-7783-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9221a776-a241-48a2-b486-98902a8628f8	2ef588a2-879b-49c7-b880-227f72467804	g.chr7:141952337A>T	ENST00000552471.1	-	4	850	c.531T>A	c.(529-531)aaT>aaA	p.N177K	PRSS58_ENST00000547058.2_Missense_Mutation_p.N177K			Q8IYP2	PRS58_HUMAN	protease, serine, 58	177	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)			kidney(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(2)|skin(2)	19						CACACAGCATATTTTCCGTGA	0.448																																						ENST00000552471.1																			0				kidney(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(2)|skin(2)	19						c.(529-531)aaT>aaA		protease, serine, 58							179	162	168					7																	141952337		2203	4300	6503	SO:0001583	missense	136541				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr7:141952337A>T		CCDS5871.1	7q34	2012-10-03			ENSG00000258223	ENSG00000258223	3.4.21.4	"Serine peptidases / Serine peptidases"	39125	protein-coding gene	gene with protein product	"trypsin X3"						Standard	NM_001001317		Approved	TRYX3	uc003vxc.4	Q8IYP2	OTTHUMG00000158565	ENST00000552471.1:c.531T>A	7.37:g.141952337A>T	ENSP00000446916:p.Asn177Lys					PRSS58_ENST00000547058.2_Missense_Mutation_p.N177K	p.N177K			Q8IYP2	PRS58_HUMAN			4	850	-			177			Peptidase S1.		B3KVJ6|D3DXD2	Missense_Mutation	SNP	ENST00000552471.1	37	c.531T>A	CCDS5871.1	.	.	.	.	.	.	.	.	.	.	A	17.42	3.384552	0.61845	.	.	ENSG00000258223	ENST00000547058;ENST00000552471	D;D	0.82167	-1.58;-1.58	4.35	-8.0	0.01126	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	.	.	.	.	T	0.81659	0.4869	L	0.55481	1.735	0.20307	N	0.999911	D	0.60575	0.988	P	0.56088	0.791	T	0.77563	-0.2541	9	0.59425	D	0.04	.	7.4421	0.27190	0.6054:0.2321:0.1625:0.0	.	177	Q8IYP2	PRS58_HUMAN	K	177	ENSP00000447588:N177K;ENSP00000446916:N177K	ENSP00000307206:N177K	N	-	3	2	PRSS58	141598815	0.005000	0.15991	0.000000	0.03702	0.120000	0.20174	-0.172000	0.09868	-1.768000	0.01298	-0.408000	0.06270	AAT		0.448	PRSS58-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351328.2	NM_001001317		7	148	0	0	0	0.307466	0	7	148					T	141952337	A	T	141952337	3	4	95	1	0	0	0	0	1	0	0	0	16601	446	16	5	202	5	TRYX3	7	141952337	Missense_Mutation	SNP	A	TCGA-EJ-7783-01A-11D-2114-08	93562062	141952337	17186326	21	5346											
PGM5	5239	broad.mit.edu	37	chr9	70993145	70993145	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgattattggacagaatggcAtcttgtcgacacctgcggtc	9	12	11	9	2	1	2	0	1	1	1	3	4	1	3	1	3	1	1	1	3	2	3			TCGA-EJ-7783-01A-11D-2114-08	TCGA-EJ-7783-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9221a776-a241-48a2-b486-98902a8628f8	c95e112d-dcf8-4bf7-b49b-bedc196d7cbf	g.chr9:70993145A>G	ENST00000396396.1	+	2	521	c.292A>G	c.(292-294)Atc>Gtc	p.I98V	PGM5_ENST00000396392.1_Missense_Mutation_p.I98V|PGM5_ENST00000604870.2_3'UTR	NM_021965.3	NP_068800.2	Q15124	PGM5_HUMAN	phosphoglucomutase 5	98					carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)	cell-cell adherens junction (GO:0005913)|costamere (GO:0043034)|cytoplasmic side of plasma membrane (GO:0009898)|dystrophin-associated glycoprotein complex (GO:0016010)|focal adhesion (GO:0005925)|intercalated disc (GO:0014704)|sarcolemma (GO:0042383)|spot adherens junction (GO:0005914)|stress fiber (GO:0001725)|Z disc (GO:0030018)	intramolecular transferase activity, phosphotransferases (GO:0016868)|magnesium ion binding (GO:0000287)|structural molecule activity (GO:0005198)	p.I98V(3)		endometrium(5)|kidney(1)|large_intestine(5)|liver(2)|lung(15)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	34						ACAGAATGGCATCTTGTCGAC	0.478																																						ENST00000396396.1																			3	Substitution - Missense(3)	p.I98V(3)	endometrium(3)	endometrium(5)|kidney(1)|large_intestine(5)|liver(2)|lung(15)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	34						c.(292-294)Atc>Gtc		phosphoglucomutase 5							35	38	37					9																	70993145		2198	4289	6487	SO:0001583	missense	5239				cell adhesion|cellular calcium ion homeostasis|glucose metabolic process	costamere|dystrophin-associated glycoprotein complex|focal adhesion|intercalated disc|internal side of plasma membrane|sarcolemma|spot adherens junction|stress fiber|Z disc	intramolecular transferase activity, phosphotransferases|magnesium ion binding|structural molecule activity	g.chr9:70993145A>G	L40933	CCDS6622.2	9q13	2008-02-05			ENSG00000154330	ENSG00000154330			8908	protein-coding gene	gene with protein product	"phosphoglucomutase-related protein"	600981				8586438, 8631316	Standard	NM_021965		Approved	PGMRP	uc004agr.3	Q15124	OTTHUMG00000019966	ENST00000396396.1:c.292A>G	9.37:g.70993145A>G	ENSP00000379678:p.Ile98Val					PGM5_ENST00000396392.1_Missense_Mutation_p.I98V|PGM5_ENST00000604870.2_3'UTR	p.I98V	NM_021965.3	NP_068800.2	Q15124	PGM5_HUMAN			2	521	+			98					B1AM46|B4DLQ6|Q5VYV3|Q8N527|Q9UDH4	Missense_Mutation	SNP	ENST00000396396.1	37	c.292A>G	CCDS6622.2	.	.	.	.	.	.	.	.	.	.	.	14.68	2.608357	0.46527	.	.	ENSG00000154330	ENST00000396396;ENST00000396392;ENST00000377314;ENST00000431583	T;T;T	0.62498	0.02;0.02;0.02	4.37	4.37	0.52481	Alpha-D-phosphohexomutase, alpha/beta/alpha domain I (1);Alpha-D-phosphohexomutase, alpha/beta/alpha I/II/III (2);	0.137251	0.48286	U	0.000197	T	0.73853	0.3640	M	0.88310	2.945	0.45502	D	0.998467	B	0.31227	0.314	P	0.45167	0.472	T	0.76953	-0.2768	10	0.72032	D	0.01	.	8.4592	0.32917	0.8259:0.0:0.0:0.1741	.	98	Q15124	PGM5_HUMAN	V	98;98;98;64	ENSP00000379678:I98V;ENSP00000379674:I98V;ENSP00000394864:I64V	ENSP00000366531:I98V	I	+	1	0	PGM5	70182965	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	4.606000	0.61126	1.730000	0.51580	0.445000	0.29226	ATC		0.478	PGM5-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052548.2	NM_021965		4	64	0	0	0	0.217242	0	4	64					G	70993145	A	G	70993145	3	3	95	1	0	0	0	0	1	0	0	0	11801	217	8	4	298	4	PGM5	9	70993145	Missense_Mutation	SNP	A	TCGA-EJ-7783-01A-11D-2114-08		70993145	70220286	22	5347											
DHTKD1	55526	broad.mit.edu	37	chr10	12148384	12148384	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagatcatctttgacacatTcatctctggaggttggtgtc	8	14	9	10	0	4	2	2	1	2	1	6	3	4	3	1	3	0	1	1	3	0	3			TCGA-EJ-7783-01A-11D-2114-08	TCGA-EJ-7783-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9221a776-a241-48a2-b486-98902a8628f8	2ef588a2-879b-49c7-b880-227f72467804	g.chr10:12148384T>G	ENST00000263035.4	+	11	2098	c.2036T>G	c.(2035-2037)tTc>tGc	p.F679C		NM_018706.5	NP_061176	Q96HY7	DHTK1_HUMAN	dehydrogenase E1 and transketolase domain containing 1	679					cell death (GO:0008219)|generation of precursor metabolites and energy (GO:0006091)|glycolytic process (GO:0006096)|hematopoietic progenitor cell differentiation (GO:0002244)|tricarboxylic acid cycle (GO:0006099)	mitochondrion (GO:0005739)	oxoglutarate dehydrogenase (succinyl-transferring) activity (GO:0004591)|thiamine pyrophosphate binding (GO:0030976)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(1)	44		Renal(717;0.228)	BRCA - Breast invasive adenocarcinoma(52;0.188)			TTTGACACATTCATCTCTGGA	0.537																																						ENST00000263035.4																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(1)	44						c.(2035-2037)tTc>tGc		dehydrogenase E1 and transketolase domain containing 1							206	184	192					10																	12148384		2203	4300	6503	SO:0001583	missense	55526				glycolysis	mitochondrion	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding	g.chr10:12148384T>G	BC002477	CCDS7087.1	10p14	2003-11-24			ENSG00000181192	ENSG00000181192			23537	protein-coding gene	gene with protein product		614984				10997877	Standard	NM_018706		Approved	KIAA1630, MGC3090, DKFZP762M115	uc001ild.5	Q96HY7	OTTHUMG00000017677	ENST00000263035.4:c.2036T>G	10.37:g.12148384T>G	ENSP00000263035:p.Phe679Cys						p.F679C	NM_018706.5	NP_061176.3	Q96HY7	DHTK1_HUMAN	BRCA - Breast invasive adenocarcinoma(52;0.188)		11	2098	+		Renal(717;0.228)	679					Q68CU5|Q9BUM8|Q9HCE2	Missense_Mutation	SNP	ENST00000263035.4	37	c.2036T>G	CCDS7087.1	.	.	.	.	.	.	.	.	.	.	T	24.1	4.494511	0.85069	.	.	ENSG00000181192	ENST00000263035	D	0.92397	-3.03	6.01	6.01	0.97437	Transketolase-like, pyrimidine-binding domain (2);	0.000000	0.85682	D	0.000000	D	0.96956	0.9006	H	0.96048	3.76	0.80722	D	1	P	0.37731	0.607	P	0.53224	0.721	D	0.97535	1.0082	10	0.87932	D	0	-14.2657	15.1499	0.72689	0.0:0.0:0.0:1.0	.	679	Q96HY7	DHTK1_HUMAN	C	679	ENSP00000263035:F679C	ENSP00000263035:F679C	F	+	2	0	DHTKD1	12188390	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	7.236000	0.78154	2.315000	0.78130	0.519000	0.50382	TTC		0.537	DHTKD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046777.1	NM_018706		13	196	0	0	0	0.520397	0	13	196					G	12148384	T	G	12148384	3	3	95	1	0	0	0	0	1	0	0	0	4500	1783	62	5	2078	5	DHTKD1	10	12148384	Missense_Mutation	SNP	T	TCGA-EJ-7783-01A-11D-2114-08		12148384	123386363	23	5348											
NT5C2	22978	broad.mit.edu	37	chr10	104849590	104849590	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tttgaaatccactgatgtgcGgttccgggtggcaagaggag	9	10	15	7	2	0	3	0	2	0	1	2	4	2	4	2	4	1	2	2	4	2	2			TCGA-EJ-7783-01A-11D-2114-08	TCGA-EJ-7783-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9221a776-a241-48a2-b486-98902a8628f8	2ef588a2-879b-49c7-b880-227f72467804	g.chr10:104849590G>A	ENST00000404739.3	-	17	1548	c.1525C>T	c.(1525-1527)Cgc>Tgc	p.R509C	NT5C2_ENST00000343289.5_Missense_Mutation_p.R509C|CNNM2_ENST00000369878.4_3'UTR|NT5C2_ENST00000369857.4_5'UTR|NT5C2_ENST00000423468.2_Missense_Mutation_p.R480C			P49902	5NTC_HUMAN	5'-nucleotidase, cytosolic II	509					cell death (GO:0008219)|dephosphorylation (GO:0016311)|drug metabolic process (GO:0017144)|nucleobase-containing small molecule metabolic process (GO:0055086)|phosphorylation (GO:0016310)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide catabolic process (GO:0006195)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	5'-nucleotidase activity (GO:0008253)|metal ion binding (GO:0046872)|nucleoside phosphotransferase activity (GO:0050146)|nucleotide binding (GO:0000166)			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|urinary_tract(1)	16		all_hematologic(284;0.176)|Colorectal(252;0.178)		Epithelial(162;1.33e-08)|all cancers(201;1.04e-07)|BRCA - Breast invasive adenocarcinoma(275;0.159)	Adenosine triphosphate(DB00171)|Ribavirin(DB00811)	ACTGATGTGCGGTTCCGGGTG	0.507																																						ENST00000343289.5																			0				cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|urinary_tract(1)	16						c.(1525-1527)Cgc>Tgc		5'-nucleotidase, cytosolic II	Adenosine triphosphate(DB00171)|Ribavirin(DB00811)						146	122	130					10																	104849590		2203	4300	6503	SO:0001583	missense	22978				purine base metabolic process|purine nucleotide catabolic process	cytosol	5'-nucleotidase activity|metal ion binding|nucleotide binding|protein binding	g.chr10:104849590G>A	D38524	CCDS7544.1	10q24.32	2014-03-03	2002-04-18	2002-04-19	ENSG00000076685	ENSG00000076685			8022	protein-coding gene	gene with protein product	"purine 5' nucleotidase"	600417	"5'-nucleotidase (purine), cytosolic type B"	NT5B		7999131, 24482476	Standard	NM_012229		Approved	PNT5, GMP, cN-II, SPG65	uc001kwq.3	P49902	OTTHUMG00000018981	ENST00000404739.3:c.1525C>T	10.37:g.104849590G>A	ENSP00000383960:p.Arg509Cys					NT5C2_ENST00000423468.2_Missense_Mutation_p.R480C|NT5C2_ENST00000369857.4_5'UTR|NT5C2_ENST00000404739.3_Missense_Mutation_p.R509C	p.R509C	NM_001134373.2|NM_012229.4	NP_001127845.1|NP_036361.1	P49902	5NTC_HUMAN		Epithelial(162;1.33e-08)|all cancers(201;1.04e-07)|BRCA - Breast invasive adenocarcinoma(275;0.159)	18	1612	-		all_hematologic(284;0.176)|Colorectal(252;0.178)	509					B7Z382|D3DR91|Q5JUV5	Missense_Mutation	SNP	ENST00000404739.3	37	c.1525C>T	CCDS7544.1	.	.	.	.	.	.	.	.	.	.	G	18.53	3.643011	0.67244	.	.	ENSG00000076685	ENST00000343289;ENST00000404739;ENST00000423468	T;T;T	0.24908	2.14;2.14;1.83	6.11	6.11	0.99139	.	0.000000	0.85682	D	0.000000	T	0.21022	0.0506	N	0.19112	0.55	0.80722	D	1	D;D;D	0.69078	0.993;0.997;0.993	B;B;B	0.44315	0.446;0.446;0.446	T	0.00807	-1.1558	10	0.44086	T	0.13	-1.8622	15.4518	0.75279	0.0:0.0:0.8613:0.1387	.	480;356;509	B7Z382;B3KXN5;P49902	.;.;5NTC_HUMAN	C	509;509;480	ENSP00000339479:R509C;ENSP00000383960:R509C;ENSP00000392236:R480C	ENSP00000339479:R509C	R	-	1	0	NT5C2	104839580	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.871000	0.87180	2.906000	0.99361	0.655000	0.94253	CGC		0.507	NT5C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050121.1	NM_012229		5	73	0	0	0	0.248553	0	5	73					A	104849590	G	A	104849590	3	1	95	1	0	0	0	0	1	0	0	0	10687	1116	39	2	164	2	NT5C2	10	104849590	Missense_Mutation	SNP	G	TCGA-EJ-7783-01A-11D-2114-08	92701206	104849590	30685157	24	5349											
SH3PXD2A	9644	broad.mit.edu	37	chr10	105361687	105361687	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctccagaacctccatggaCaccccctcctggaagcctgc	8	7	7	19	0	1	1	0	0	1	1	4	3	3	3	7	2	3	0	7	2	2	0	rs146300680		TCGA-EJ-7783-01A-11D-2114-08	TCGA-EJ-7783-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9221a776-a241-48a2-b486-98902a8628f8	2ef588a2-879b-49c7-b880-227f72467804	g.chr10:105361687C>A	ENST00000369774.4	-	15	3564	c.3288G>T	c.(3286-3288)gtG>gtT	p.V1096V	SH3PXD2A_ENST00000427662.2_Intron|SH3PXD2A_ENST00000538130.1_Silent_p.V931V|SH3PXD2A_ENST00000355946.2_Silent_p.V1068V|SH3PXD2A_ENST00000315994.6_5'UTR|SH3PXD2A_ENST00000540321.1_Silent_p.V963V			Q5TCZ1	SPD2A_HUMAN	SH3 and PX domains 2A	1096	SH3 5. {ECO:0000255|PROSITE- ProRule:PRU00192}.				superoxide metabolic process (GO:0006801)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|podosome (GO:0002102)	phosphatidylinositol binding (GO:0035091)			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(1)|urinary_tract(1)	38		Colorectal(252;0.0815)|Breast(234;0.131)		Epithelial(162;4.09e-10)|all cancers(201;2.73e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0119)		CCTCCATGGACACCCCCTCCT	0.537																																						ENST00000369774.4																			0				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(1)|urinary_tract(1)	38						c.(3286-3288)gtG>gtT		SH3 and PX domains 2A							112	117	115					10																	105361687		2203	4300	6503	SO:0001819	synonymous_variant	9644				cell communication|superoxide metabolic process	cell junction|cell projection|cytoplasm|podosome	phosphatidylinositol binding|protein binding	g.chr10:105361687C>A	AB007878	CCDS31278.1	10q25.1	2006-02-13	2006-02-13	2006-02-13	ENSG00000107957	ENSG00000107957			23664	protein-coding gene	gene with protein product	"five SH3 domains"		"SH3 multiple domains 1"	SH3MD1		9687503	Standard	XM_005270297		Approved	FISH, KIAA0418	uc001kxj.1	Q5TCZ1	OTTHUMG00000018997	ENST00000369774.4:c.3288G>T	10.37:g.105361687C>A						SH3PXD2A_ENST00000355946.2_Silent_p.V1068V|SH3PXD2A_ENST00000315994.6_5'UTR|SH3PXD2A_ENST00000538130.1_Silent_p.V931V|SH3PXD2A_ENST00000427662.2_Intron|SH3PXD2A_ENST00000540321.1_Silent_p.V963V	p.V1096V			Q5TCZ1	SPD2A_HUMAN		Epithelial(162;4.09e-10)|all cancers(201;2.73e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0119)	15	3564	-		Colorectal(252;0.0815)|Breast(234;0.131)	1096			SH3 5.		D3DR98|O43302|Q5TCZ2|Q5TDQ8	Silent	SNP	ENST00000369774.4	37	c.3288G>T		.	.	.	.	.	.	.	.	.	.	C	3.174	-0.169338	0.06461	.	.	ENSG00000107957	ENST00000420222	T	0.29655	1.56	5.39	3.55	0.40652	.	0.116207	0.64402	D	0.000015	T	0.32704	0.0838	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.12451	-1.0547	7	0.52906	T	0.07	-18.6284	2.9755	0.05936	0.1242:0.5384:0.1763:0.1611	.	.	.	.	F	1023	ENSP00000395781:V1023F	ENSP00000395781:V1023F	V	-	1	0	SH3PXD2A	105351677	0.393000	0.25237	1.000000	0.80357	0.921000	0.55340	-0.347000	0.07750	0.660000	0.30964	-0.258000	0.10820	GTC		0.537	SH3PXD2A-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000050178.1	NM_014631		22	105	1	0	1.96895e-08	0.639603	2.3033e-08	22	105					A	105361687	C	A	105361687	2	1	95	1	0	0	0	0	0	0	0	1	14256	465	17	5		5	SH3PXD2A	10	105361687	Silent	SNP	C	TCGA-EJ-7783-01A-11D-2114-08	512097	105361687	30173060	25	5350											
FAT3	120114	broad.mit.edu	37	chr11	92086069	92086069	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgcataaatgaacatgcccCaacaatccatgtagtcactc	14	8	6	13	1	1	1	1	1	0	0	3	1	2	1	3	0	3	2	3	0	6	2			TCGA-EJ-7783-01A-11D-2114-08	TCGA-EJ-7783-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9221a776-a241-48a2-b486-98902a8628f8	2ef588a2-879b-49c7-b880-227f72467804	g.chr11:92086069C>T	ENST00000298047.6	+	1	808	c.791C>T	c.(790-792)cCa>cTa	p.P264L	FAT3_ENST00000409404.2_Missense_Mutation_p.P264L|FAT3_ENST00000541502.1_Missense_Mutation_p.P264L|FAT3_ENST00000525166.1_Missense_Mutation_p.P114L			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	264	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.|Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				GAACATGCCCCAACAATCCAT	0.443										TCGA Ovarian(4;0.039)																												ENST00000298047.6																			0				NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85						c.(790-792)cCa>cTa		FAT atypical cadherin 3							176	169	171					11																	92086069		2026	4186	6212	SO:0001583	missense	120114				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr11:92086069C>T	AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"Cadherins / Cadherin-related"	23112	protein-coding gene	gene with protein product	"cadherin-related family member 10"	612483	"FAT tumor suppressor homolog 3 (Drosophila)"			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.791C>T	11.37:g.92086069C>T	ENSP00000298047:p.Pro264Leu	TCGA Ovarian(4;0.039)				FAT3_ENST00000541502.1_Missense_Mutation_p.P264L|FAT3_ENST00000525166.1_Missense_Mutation_p.P114L|FAT3_ENST00000409404.2_Missense_Mutation_p.P264L	p.P264L			Q8TDW7	FAT3_HUMAN			1	808	+		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)	264			Cadherin 2.|Cadherin 3.		B5MDB0|Q96AU6	Missense_Mutation	SNP	ENST00000298047.6	37	c.791C>T		.	.	.	.	.	.	.	.	.	.	C	17.35	3.366856	0.61513	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000541502;ENST00000525166	D;D;D;D	0.88124	-2.34;-2.34;-2.34;-2.34	5.09	5.09	0.68999	.	.	.	.	.	D	0.96380	0.8819	H	0.98295	4.195	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.97996	1.0357	9	0.72032	D	0.01	.	17.8503	0.88744	0.0:1.0:0.0:0.0	.	264	Q8TDW7-3	.	L	264;264;264;114	ENSP00000298047:P264L;ENSP00000387040:P264L;ENSP00000443786:P264L;ENSP00000432586:P114L	ENSP00000298047:P264L	P	+	2	0	FAT3	91725717	1.000000	0.71417	0.257000	0.24404	0.584000	0.36387	7.752000	0.85141	2.509000	0.84616	0.557000	0.71058	CCA		0.443	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781		18	109	0	0	0	0.592651	0	18	109					T	92086069	C	T	92086069	3	4	95	1	0	0	0	0	1	0	0	0	5691	594	21	3	793	3	FAT3	11	92086069	Missense_Mutation	SNP	C	TCGA-EJ-7783-01A-11D-2114-08		92086069	42920447	26	5351											
ATM	472	broad.mit.edu	37	chr11	108121643	108121643	+	Frame_Shift_Del	DEL	G	G	-																															gtcagatttattaaaactctGgaataaaatttggtgtatta																										TCGA-EJ-7783-01A-11D-2114-08	TCGA-EJ-7783-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9221a776-a241-48a2-b486-98902a8628f8	2ef588a2-879b-49c7-b880-227f72467804	g.chr11:108121643delG	ENST00000452508.2	+	11	1640	c.1451delG	c.(1450-1452)tggfs	p.W484fs	ATM_ENST00000278616.4_Frame_Shift_Del_p.W484fs			Q13315	ATM_HUMAN	ATM serine/threonine kinase	484					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|DNA damage induced protein phosphorylation (GO:0006975)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|heart development (GO:0007507)|histone mRNA catabolic process (GO:0071044)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|lipoprotein catabolic process (GO:0042159)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of B cell proliferation (GO:0030889)|neuron apoptotic process (GO:0051402)|oocyte development (GO:0048599)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of neuron apoptotic process (GO:0043525)|pre-B cell allelic exclusion (GO:0002331)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reciprocal meiotic recombination (GO:0007131)|replicative senescence (GO:0090399)|response to hypoxia (GO:0001666)|response to ionizing radiation (GO:0010212)|signal transduction (GO:0007165)|signal transduction involved in mitotic G2 DNA damage checkpoint (GO:0072434)|somitogenesis (GO:0001756)|telomere maintenance (GO:0000723)	cytoplasmic vesicle (GO:0031410)|nucleoplasm (GO:0005654)|spindle (GO:0005819)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|histone serine kinase activity (GO:0035174)|protein complex binding (GO:0032403)|protein dimerization activity (GO:0046983)|protein N-terminus binding (GO:0047485)|protein serine/threonine kinase activity (GO:0004674)			NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	Caffeine(DB00201)	TTAAAACTCTGGAATAAAATT	0.373			"D, Mis, N, F, S"		T-PLL	"leukemia, lymphoma, medulloblastoma, glioma"		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)																												ENST00000278616.4			yes	Rec	yes	Ataxia-telangiectasia	11	11q22.3	472	"D, Mis, N, F, S"	ataxia telangiectasia mutated			"L, O"		"leukemia, lymphoma, medulloblastoma, glioma"	T-PLL		0				NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448						c.(1450-1452)tgfs	Genes defective in diseases associated with sensitivity to DNA damaging agents	ataxia telangiectasia mutated							89	96	93					11																	108121643		2201	4298	6499	SO:0001589	frameshift_variant	472	Ataxia Telangiectasia	Familial Cancer Database	AT, Louis-Bar syndrome	cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding	g.chr11:108121643delG	AB209133	CCDS31669.1	11q22-q23	2014-09-17	2014-06-17		ENSG00000149311	ENSG00000149311			795	protein-coding gene	gene with protein product	"TEL1, telomere maintenance 1, homolog (S. cerevisiae)"	607585	"ataxia telangiectasia mutated (includes complementation groups A, C and D)", "ataxia telangiectasia mutated"	ATA, ATDC, ATC, ATD			Standard	XM_005271561		Approved	TEL1, TELO1	uc001pkb.1	Q13315	OTTHUMG00000166480	ENST00000452508.2:c.1451delG	11.37:g.108121643delG	ENSP00000388058:p.Trp484fs	TSP Lung(14;0.12)				ATM_ENST00000452508.2_Frame_Shift_Del_p.W484fs	p.W484fs	NM_000051.3	NP_000042.3	Q13315	ATM_HUMAN		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	10	1836	+		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)	484					B2RNX5|O15429|Q12758|Q16551|Q93007|Q9NP02|Q9UCX7	Frame_Shift_Del	DEL	ENST00000452508.2	37	c.1451delG	CCDS31669.1																																																																																				0.373	ATM-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389938.1	NM_000051		15	54						15	54	---	---	---	---	-	108121643	G	-	108121643	7	5	95	1	0	1	0	1	0	0	0	0	1109	1357	47	0	1485	0	ATM	11	108121643	Frame_Shift_Del	DEL	G	TCGA-EJ-7783-01A-11D-2114-08	16035574	108121643	26884873	27	5352											
SYT1	6857	broad.mit.edu	37	chr12	79611355	79611355	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccgcctgtcaccactgtcgCgactgttctgccaagcaacg	7	8	9	17	4	2	0	1	0	1	0	3	1	2	0	4	0	3	2	4	0	2	1			TCGA-EJ-7783-01A-11D-2114-08	TCGA-EJ-7783-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9221a776-a241-48a2-b486-98902a8628f8	2ef588a2-879b-49c7-b880-227f72467804	g.chr12:79611355C>T	ENST00000261205.4	+	4	713	c.56C>T	c.(55-57)gCg>gTg	p.A19V	SYT1_ENST00000552744.1_Missense_Mutation_p.A19V|SYT1_ENST00000457153.2_Missense_Mutation_p.A19V|SYT1_ENST00000393240.3_Missense_Mutation_p.A19V	NM_005639.2	NP_005630.1	P21579	SYT1_HUMAN	synaptotagmin I	19					calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|detection of calcium ion (GO:0005513)|glutamate secretion (GO:0014047)|neurotransmitter secretion (GO:0007269)|positive regulation of calcium ion-dependent exocytosis (GO:0045956)|positive regulation of synaptic transmission (GO:0050806)|positive regulation of vesicle fusion (GO:0031340)|protein homooligomerization (GO:0051260)|regulation of exocytosis (GO:0017157)|regulation of regulated secretory pathway (GO:1903305)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)|synaptic vesicle exocytosis (GO:0016079)|vesicle docking (GO:0048278)	cell junction (GO:0030054)|clathrin-sculpted acetylcholine transport vesicle membrane (GO:0060201)|clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane (GO:0061202)|clathrin-sculpted glutamate transport vesicle membrane (GO:0060203)|clathrin-sculpted monoamine transport vesicle membrane (GO:0070083)|dense core granule (GO:0031045)|endocytic vesicle membrane (GO:0030666)|excitatory synapse (GO:0060076)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)|synaptic vesicle (GO:0008021)|synaptic vesicle membrane (GO:0030672)	1-phosphatidylinositol binding (GO:0005545)|calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|low-density lipoprotein particle receptor binding (GO:0050750)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylserine binding (GO:0001786)|SNARE binding (GO:0000149)|syntaxin-1 binding (GO:0017075)|transporter activity (GO:0005215)			NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|pancreas(2)|skin(6)	25						ACCACTGTCGCGACTGTTCTG	0.527																																						ENST00000261205.4																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|pancreas(2)|skin(6)	25						c.(55-57)gCg>gTg		synaptotagmin I							56	56	56					12																	79611355		2203	4300	6503	SO:0001583	missense	6857				detection of calcium ion|glutamate secretion|neurotransmitter secretion|protein homooligomerization	cell junction|chromaffin granule membrane|clathrin sculpted acetylcholine transport vesicle membrane|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|clathrin sculpted glutamate transport vesicle membrane|clathrin sculpted monoamine transport vesicle membrane|endocytic vesicle membrane|integral to membrane|synaptic vesicle membrane	1-phosphatidylinositol binding|low-density lipoprotein particle receptor binding|metal ion binding|syntaxin-1 binding|transporter activity	g.chr12:79611355C>T		CCDS9017.1	12q21.2	2013-09-20			ENSG00000067715	ENSG00000067715		"Synaptotagmins"	11509	protein-coding gene	gene with protein product		185605		SYT, SVP65		1840599	Standard	NM_001135805		Approved	P65	uc001syv.3	P21579	OTTHUMG00000134326	ENST00000261205.4:c.56C>T	12.37:g.79611355C>T	ENSP00000261205:p.Ala19Val					SYT1_ENST00000393240.3_Missense_Mutation_p.A19V|SYT1_ENST00000457153.2_Missense_Mutation_p.A19V|SYT1_ENST00000552744.1_Missense_Mutation_p.A19V	p.A19V	NM_005639.2	NP_005630.1	P21579	SYT1_HUMAN			4	713	+			19					Q6AI31	Missense_Mutation	SNP	ENST00000261205.4	37	c.56C>T	CCDS9017.1	.	.	.	.	.	.	.	.	.	.	C	15.67	2.903371	0.52333	.	.	ENSG00000067715	ENST00000393240;ENST00000261205;ENST00000457153;ENST00000552074;ENST00000547046;ENST00000549671;ENST00000551304;ENST00000552744;ENST00000552624;ENST00000446242	T;T;T;T;T;T	0.60424	0.2;0.2;0.19;0.2;1.85;2.43	5.51	4.62	0.57501	.	0.303302	0.37095	N	0.002258	T	0.51686	0.1689	L	0.58101	1.795	0.54753	D	0.999986	B;B	0.06786	0.001;0.001	B;B	0.01281	0.0;0.0	T	0.47058	-0.9146	10	0.30078	T	0.28	.	11.4254	0.50007	0.0:0.8545:0.0:0.1455	.	19;19	Q6AI31;P21579	.;SYT1_HUMAN	V	19	ENSP00000376932:A19V;ENSP00000261205:A19V;ENSP00000391056:A19V;ENSP00000447575:A19V;ENSP00000448861:A19V;ENSP00000401559:A19V	ENSP00000261205:A19V	A	+	2	0	SYT1	78135486	0.948000	0.32251	0.059000	0.19551	0.141000	0.21300	4.276000	0.58933	1.321000	0.45227	0.643000	0.83706	GCG		0.527	SYT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000259415.1	NM_005639		11	62	0	0	0	0.38729	0	11	62					T	79611355	C	T	79611355	3	4	95	1	0	0	0	0	1	0	0	0	15462	768	27	1	58	1	SYT1	12	79611355	Missense_Mutation	SNP	C	TCGA-EJ-7783-01A-11D-2114-08		79611355	54240540	28	5353											
TMEM116	89894	broad.mit.edu	37	chr12	112369540	112369540	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgtctgggtatctgcatcaCgccgagcctcctgctttagt	5	13	11	12	2	3	0	1	0	2	0	4	1	4	0	3	1	3	3	3	1	2	3	rs371845657		TCGA-EJ-7783-01A-11D-2114-08	TCGA-EJ-7783-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9221a776-a241-48a2-b486-98902a8628f8	2ef588a2-879b-49c7-b880-227f72467804	g.chr12:112369540C>T	ENST00000550831.3	-	10	991	c.623G>A	c.(622-624)cGt>cAt	p.R208H	TMEM116_ENST00000549537.2_Missense_Mutation_p.R114H|TMEM116_ENST00000355445.3_Missense_Mutation_p.R265H|TMEM116_ENST00000354825.3_Missense_Mutation_p.R208H|TMEM116_ENST00000552374.2_Missense_Mutation_p.R300H|TMEM116_ENST00000437003.2_Missense_Mutation_p.R208H	NM_138341.2	NP_612350.1	Q8NCL8	TM116_HUMAN	transmembrane protein 116	208						integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|skin(1)	8						ATCTGCATCACGCCGAGCCTC	0.493																																						ENST00000354825.3																			0				endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|skin(1)	8						c.(622-624)cGt>cAt		transmembrane protein 116		C	HIS/ARG,HIS/ARG,HIS/ARG	0,4406		0,0,2203	137	124	129		794,899,623	3.8	0.9	12		129	2,8598	2.2+/-6.3	0,2,4298	no	missense,missense,missense	TMEM116	NM_001193453.1,NM_001193531.1,NM_138341.2	29,29,29	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	probably-damaging,probably-damaging,probably-damaging	265/303,300/338,208/246	112369540	2,13004	2203	4300	6503	SO:0001583	missense	89894					integral to membrane		g.chr12:112369540C>T	AK074648	CCDS9157.1, CCDS55886.1, CCDS55887.1	12q24.13	2012-03-02			ENSG00000198270	ENSG00000198270			25084	protein-coding gene	gene with protein product						12477932	Standard	NM_001193453		Approved	FLJ90167	uc001ttd.2	Q8NCL8	OTTHUMG00000169606	ENST00000550831.3:c.623G>A	12.37:g.112369540C>T	ENSP00000450377:p.Arg208His					TMEM116_ENST00000549537.2_Missense_Mutation_p.R114H|TMEM116_ENST00000552374.2_Missense_Mutation_p.R300H|TMEM116_ENST00000550831.3_Missense_Mutation_p.R208H|TMEM116_ENST00000355445.3_Missense_Mutation_p.R265H|TMEM116_ENST00000437003.2_Missense_Mutation_p.R208H	p.R208H			Q8NCL8	TM116_HUMAN			13	1278	-			208					G3V1W7|G5E985|Q6NSH5|Q8IZ66	Missense_Mutation	SNP	ENST00000550831.3	37	c.623G>A	CCDS9157.1	.	.	.	.	.	.	.	.	.	.	c	22.2	4.259408	0.80246	0.0	2.33E-4	ENSG00000198270	ENST00000355445;ENST00000354825;ENST00000550831;ENST00000437003;ENST00000549537;ENST00000552374	T;T;T;T;T;T	0.61392	0.11;0.11;0.11;0.11;0.11;0.11	5.65	3.84	0.44239	.	0.156200	0.41194	N	0.000928	T	0.63815	0.2543	L	0.36672	1.1	0.38764	D	0.954401	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.66196	0.942;0.942;0.942;0.942	T	0.67780	-0.5582	10	0.87932	D	0	-1.8737	11.4483	0.50136	0.0:0.8513:0.0:0.1487	.	114;265;300;208	G3V1Z3;G5E985;G3V1W7;Q8NCL8	.;.;.;TM116_HUMAN	H	265;208;208;208;114;300	ENSP00000347620:R265H;ENSP00000346883:R208H;ENSP00000450377:R208H;ENSP00000395861:R208H;ENSP00000449163:R114H;ENSP00000447731:R300H	ENSP00000346883:R208H	R	-	2	0	TMEM116	110853923	1.000000	0.71417	0.944000	0.38274	0.959000	0.62525	2.691000	0.47010	0.767000	0.33267	0.467000	0.42956	CGT		0.493	TMEM116-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000405026.3	NM_138341		5	100	0	0	0	0.248553	0	5	100					T	112369540	C	T	112369540	3	4	95	1	0	0	0	0	1	0	0	0	16027	536	19	1	118	1	TMEM116	12	112369540	Missense_Mutation	SNP	C	TCGA-EJ-7783-01A-11D-2114-08	32758185	112369540	21482355	29	5354											
FREM2	341640	broad.mit.edu	37	chr13	39265996	39265996	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgatgaagtgaaaatggaCagttttgagtttcaagtcac	14	12	11	4	0	2	4	2	4	0	0	2	6	2	5	0	1	0	2	0	1	4	3			TCGA-EJ-7783-01A-11D-2114-08	TCGA-EJ-7783-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9221a776-a241-48a2-b486-98902a8628f8	2ef588a2-879b-49c7-b880-227f72467804	g.chr13:39265996C>A	ENST00000280481.7	+	1	4731	c.4515C>A	c.(4513-4515)gaC>gaA	p.D1505E		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	1505					cell communication (GO:0007154)|homophilic cell adhesion (GO:0007156)|inner ear development (GO:0048839)|morphogenesis of an epithelium (GO:0002009)	basement membrane (GO:0005604)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		TGAAAATGGACAGTTTTGAGT	0.468																																						ENST00000280481.7																			0				NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148						c.(4513-4515)gaC>gaA		FRAS1 related extracellular matrix protein 2							118	109	112					13																	39265996		2203	4300	6503	SO:0001583	missense	341640				cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr13:39265996C>A	BX538150	CCDS31960.1	13q13.3	2004-12-15			ENSG00000150893	ENSG00000150893			25396	protein-coding gene	gene with protein product		608945				15345741	Standard	NM_207361		Approved	DKFZp686J0811	uc001uwv.3	Q5SZK8	OTTHUMG00000016759	ENST00000280481.7:c.4515C>A	13.37:g.39265996C>A	ENSP00000280481:p.Asp1505Glu						p.D1505E	NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)	1	4731	+		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)	1505					Q4QQG1|Q5H9N8|Q5T6Q1|Q6N057|Q6ZSB4|Q7Z305|Q7Z341	Missense_Mutation	SNP	ENST00000280481.7	37	c.4515C>A	CCDS31960.1	.	.	.	.	.	.	.	.	.	.	C	16.92	3.255388	0.59321	.	.	ENSG00000150893	ENST00000280481	T	0.50001	0.76	6.07	5.06	0.68205	.	0.000000	0.85682	D	0.000000	T	0.76154	0.3948	H	0.96489	3.83	0.58432	D	0.999999	D	0.65815	0.995	D	0.64410	0.925	T	0.82468	-0.0442	10	0.62326	D	0.03	.	13.9506	0.64113	0.0:0.8775:0.0:0.1225	.	1505	Q5SZK8	FREM2_HUMAN	E	1505	ENSP00000280481:D1505E	ENSP00000280481:D1505E	D	+	3	2	FREM2	38163996	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.688000	0.37690	2.890000	0.99128	0.650000	0.86243	GAC		0.468	FREM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044599.2	NM_207361		4	111	1	0	0.014758	0.184627	0.0163392	4	111					A	39265996	C	A	39265996	3	1	95	1	0	0	0	0	1	0	0	0	6045	477	17	5	4517	5	FREM2	13	39265996	Missense_Mutation	SNP	C	TCGA-EJ-7783-01A-11D-2114-08		39265996	75903882	30	5355											
PCDH9	5101	broad.mit.edu	37	chr13	67801779	67801779	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttacagaggtacctacgggaGcattctctggaatatgcacc	11	10	10	10	1	1	1	0	0	1	1	2	3	1	3	2	3	5	3	2	3	5	5			TCGA-EJ-7783-01A-11D-2114-08	TCGA-EJ-7783-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9221a776-a241-48a2-b486-98902a8628f8	2ef588a2-879b-49c7-b880-227f72467804	g.chr13:67801779G>A	ENST00000377865.2	-	1	928	c.794C>T	c.(793-795)gCt>gTt	p.A265V	PCDH9_ENST00000544246.1_Missense_Mutation_p.A265V|PCDH9_ENST00000377861.3_Missense_Mutation_p.A265V|PCDH9_ENST00000456367.1_Missense_Mutation_p.A265V|PCDH9_ENST00000328454.5_Missense_Mutation_p.A265V			Q9HC56	PCDH9_HUMAN	protocadherin 9	265	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				forebrain development (GO:0030900)|homophilic cell adhesion (GO:0007156)	cell-cell contact zone (GO:0044291)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		ACCTACGGGAGCATTCTCTGG	0.483																																						ENST00000544246.1																			0				breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103						c.(793-795)gCt>gTt		protocadherin 9							119	109	112					13																	67801779		2203	4300	6503	SO:0001583	missense	5101				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr13:67801779G>A	AF169692	CCDS9443.1, CCDS9444.1	13q21.32	2010-02-22			ENSG00000184226	ENSG00000184226		"Cadherins / Protocadherins : Non-clustered"	8661	protein-coding gene	gene with protein product		603581				9787079	Standard	NM_020403		Approved		uc001vik.3	Q9HC56	OTTHUMG00000017040	ENST00000377865.2:c.794C>T	13.37:g.67801779G>A	ENSP00000367096:p.Ala265Val					PCDH9_ENST00000377861.3_Missense_Mutation_p.A265V|PCDH9_ENST00000377865.2_Missense_Mutation_p.A265V|PCDH9_ENST00000328454.5_Missense_Mutation_p.A265V|PCDH9_ENST00000456367.1_Missense_Mutation_p.A265V	p.A265V	NM_203487.2	NP_982354.1	Q9HC56	PCDH9_HUMAN		GBM - Glioblastoma multiforme(99;0.00819)	2	1485	-		Hepatocellular(98;0.0906)|Breast(118;0.107)	265			Cadherin 3.		A2A6U1|Q5VT83|Q7Z3U0|Q8N3K7	Missense_Mutation	SNP	ENST00000377865.2	37	c.794C>T	CCDS9444.1	.	.	.	.	.	.	.	.	.	.	G	18.80	3.701842	0.68501	.	.	ENSG00000184226	ENST00000544246;ENST00000377865;ENST00000456367;ENST00000328454;ENST00000377861	T;T;T;T;T	0.55588	0.51;0.51;0.51;0.51;0.51	6.17	6.17	0.99709	Cadherin (3);Cadherin-like (1);	0.048166	0.85682	D	0.000000	T	0.63058	0.2479	L	0.33753	1.03	0.80722	D	1	P;D;D;D	0.62365	0.956;0.984;0.98;0.991	P;P;P;D	0.63597	0.818;0.868;0.863;0.916	T	0.54262	-0.8320	10	0.30078	T	0.28	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	265;265;265;265	B7ZM79;Q5VT82;Q9HC56-2;Q9HC56	.;.;.;PCDH9_HUMAN	V	265	ENSP00000442186:A265V;ENSP00000367096:A265V;ENSP00000401699:A265V;ENSP00000332060:A265V;ENSP00000367092:A265V	ENSP00000332060:A265V	A	-	2	0	PCDH9	66699780	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	9.869000	0.99810	2.941000	0.99782	0.655000	0.94253	GCT		0.483	PCDH9-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276387.1	NM_203487		13	81	0	0	0	0.500413	0	13	81					A	67801779	G	A	67801779	3	1	95	1	0	0	0	0	1	0	0	0	11518	971	34	3	2935	3	PCDH9	13	67801779	Missense_Mutation	SNP	G	TCGA-EJ-7783-01A-11D-2114-08	28535783	67801779	47368099	31	5356											
ZIC5	85416	broad.mit.edu	37	chr13	100622668	100622670	+	In_Frame_Del	DEL	GGC	GGC	-																															cgccgccggccgggggcggtGgcggcggcggcggcggcggc																								rs71114653		TCGA-EJ-7783-01A-11D-2114-08	TCGA-EJ-7783-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9221a776-a241-48a2-b486-98902a8628f8	2ef588a2-879b-49c7-b880-227f72467804	g.chr13:100622668_100622670delGGC	ENST00000267294.4	-	1	1493_1495	c.1260_1262delGCC	c.(1258-1263)ccgcca>cca	p.420_421PP>P		NM_033132.3	NP_149123.2	Q96T25	ZIC5_HUMAN	Zic family member 5	420	Pro-rich.				cell differentiation (GO:0030154)|forebrain development (GO:0030900)|neural tube closure (GO:0001843)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|kidney(1)|lung(2)|prostate(1)|skin(2)	9	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					cgggggcggtggcggcggcggcg	0.724																																						ENST00000267294.4																			0				endometrium(3)|kidney(1)|lung(2)|prostate(1)|skin(2)	9						c.(1258-1263)cca>cc		Zic family member 5																																				SO:0001651	inframe_deletion	85416				cell differentiation	nucleus	DNA binding|zinc ion binding	g.chr13:100622668_100622670delGGC	AF378304	CCDS9494.2	13q32.2	2013-01-08	2011-05-19		ENSG00000139800	ENSG00000139800		"Zinc fingers, C2H2-type"	20322	protein-coding gene	gene with protein product			"Zic family member 5 (odd-paired homolog, Drosophila)"				Standard	NM_033132		Approved		uc001vom.1	Q96T25	OTTHUMG00000017280	ENST00000267294.4:c.1260_1262delGCC	13.37:g.100622677_100622679delGGC	ENSP00000267294:p.Pro424del						p.PP422del	NM_033132.3	NP_149123.2	Q96T25	ZIC5_HUMAN			1	1493_1495	-	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		422			Pro-rich.		Q5VYB0	In_Frame_Del	DEL	ENST00000267294.4	37	c.1260_1262delGCC	CCDS9494.2																																																																																				0.724	ZIC5-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000045623.3	NM_033132		3	3						3	3	---	---	---	---	-	100622670	GGC	-	100622668	7	5	95	1	0	1	0	1	0	0	0	0	17679	1348	47	0	737	0	ZIC5	13	100622668	In_Frame_Del	DEL	GGC	TCGA-EJ-7783-01A-11D-2114-08	32820889	100622668	14547210	32	5357											
KCNH5	27133	broad.mit.edu	37	chr14	63453899	63453899	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgtcaatcgggcaaatttcGtccaaccttaaaaataagga	15	10	8	8	2	1	0	1	0	0	0	4	1	2	1	2	2	1	1	2	2	7	3	rs180894715		TCGA-EJ-7783-01A-11D-2114-08	TCGA-EJ-7783-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9221a776-a241-48a2-b486-98902a8628f8	2ef588a2-879b-49c7-b880-227f72467804	g.chr14:63453899G>A	ENST00000322893.7	-	5	708	c.440C>T	c.(439-441)aCg>aTg	p.T147M	KCNH5_ENST00000394964.2_Missense_Mutation_p.T89M|KCNH5_ENST00000394968.1_Missense_Mutation_p.T89M|KCNH5_ENST00000420622.2_Missense_Mutation_p.T147M	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 5	147					potassium ion transmembrane transport (GO:0071805)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)	p.T147M(1)		NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		GGCAAATTTCGTCCAACCTTA	0.383													G|||	1	0.000199681	0	0.0014	5008	,	,		19251	0		0	False		,,,				2504	0					ENST00000322893.7																			1	Substitution - Missense(1)	p.T147M(1)	large_intestine(1)	NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99						c.(439-441)aCg>aTg		potassium voltage-gated channel, subfamily H (eag-related), member 5		G	MET/THR,MET/THR,MET/THR	0,4406		0,0,2203	82	78	80		440,440,266	5.7	1	14		80	2,8596	2.2+/-6.3	0,2,4297	no	missense,missense,missense	KCNH5	NM_139318.3,NM_172375.1,NM_172376.1	81,81,81	0,2,6500	AA,AG,GG		0.0233,0.0,0.0154	probably-damaging,probably-damaging,probably-damaging	147/989,147/612,89/625	63453899	2,13002	2203	4299	6502	SO:0001583	missense	27133				regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity	g.chr14:63453899G>A	U69185	CCDS9756.1, CCDS45122.1	14q23.1	2012-07-05			ENSG00000140015	ENSG00000140015		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6254	protein-coding gene	gene with protein product		605716				9738473, 16382104	Standard	NM_139318		Approved	Kv10.2, H-EAG2, eag2	uc001xfx.3	Q8NCM2	OTTHUMG00000029041	ENST00000322893.7:c.440C>T	14.37:g.63453899G>A	ENSP00000321427:p.Thr147Met					KCNH5_ENST00000420622.2_Missense_Mutation_p.T147M|KCNH5_ENST00000394964.2_Missense_Mutation_p.T89M|KCNH5_ENST00000394968.1_Missense_Mutation_p.T89M	p.T147M	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)	5	708	-			147					C9JP98	Missense_Mutation	SNP	ENST00000322893.7	37	c.440C>T	CCDS9756.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	17.50	3.405912	0.62288	0.0	2.33E-4	ENSG00000140015	ENST00000322893;ENST00000420622;ENST00000394968;ENST00000394964	D;D;D;D	0.98937	-5.25;-5.08;-5.08;-5.07	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	D	0.97380	0.9143	L	0.44542	1.39	0.80722	D	1	P;P;P;D	0.53885	0.892;0.889;0.759;0.963	B;B;B;B	0.43809	0.21;0.27;0.27;0.432	D	0.97467	1.0038	10	0.49607	T	0.09	.	19.85	0.96736	0.0:0.0:1.0:0.0	.	89;89;147;147	Q86XI1;Q8NCM2-3;Q8NCM2-2;Q8NCM2	.;.;.;KCNH5_HUMAN	M	147;147;89;89	ENSP00000321427:T147M;ENSP00000395439:T147M;ENSP00000378419:T89M;ENSP00000378415:T89M	ENSP00000321427:T147M	T	-	2	0	KCNH5	62523652	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	5.559000	0.67326	2.697000	0.92050	0.563000	0.77884	ACG		0.383	KCNH5-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411747.1	NM_139318		12	40	0	0	0	0.435327	0	12	40					A	63453899	G	A	63453899	3	1	95	1	0	0	0	0	1	0	0	0	8035	1145	40	1	2588	1	KCNH5	14	63453899	Missense_Mutation	SNP	G	TCGA-EJ-7783-01A-11D-2114-08		63453899	43895641	33	5358											
EIF5	1983	broad.mit.edu	37	chr14	103807368	103807368	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcagacaacaaggatgacgaCatcgatattgatgccattta	15	10	8	8	2	1	3	1	2	0	1	2	6	1	4	1	1	2	0	1	1	4	4			TCGA-EJ-7783-01A-11D-2114-08	TCGA-EJ-7783-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9221a776-a241-48a2-b486-98902a8628f8	2ef588a2-879b-49c7-b880-227f72467804	g.chr14:103807368C>T	ENST00000216554.3	+	12	1951	c.1275C>T	c.(1273-1275)gaC>gaT	p.D425D	EIF5_ENST00000392715.2_Silent_p.D425D|EIF5_ENST00000558506.1_Silent_p.D425D	NM_001969.4	NP_001960.2	P55010	IF5_HUMAN	eukaryotic translation initiation factor 5	425	Asp-rich (acidic).				cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|GTP catabolic process (GO:0006184)|regulation of translational initiation (GO:0006446)|translation (GO:0006412)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)	p.D425fs*>5(1)		breast(3)|kidney(2)|large_intestine(3)|lung(5)|pancreas(2)|skin(2)|upper_aerodigestive_tract(1)	18		Melanoma(154;0.155)	Epithelial(46;0.182)			AGGATGACGACATCGATATTG	0.398																																						ENST00000216554.3																			1	Deletion - Frameshift(1)	p.D425fs*>5(1)	pancreas(1)	breast(3)|kidney(2)|large_intestine(3)|lung(5)|pancreas(2)|skin(2)|upper_aerodigestive_tract(1)	18						c.(1273-1275)gaC>gaT		eukaryotic translation initiation factor 5							153	125	135					14																	103807368		2203	4300	6503	SO:0001819	synonymous_variant	1983				regulation of translational initiation|RNA metabolic process	cytosol	GTP binding|GTPase activity|translation initiation factor activity	g.chr14:103807368C>T	U49436	CCDS9980.1	14q32.32	2006-05-11				ENSG00000100664			3299	protein-coding gene	gene with protein product		601710				8663286	Standard	NM_001969		Approved		uc001ymq.4	P55010		ENST00000216554.3:c.1275C>T	14.37:g.103807368C>T						EIF5_ENST00000558506.1_Silent_p.D425D|EIF5_ENST00000392715.2_Silent_p.D425D	p.D425D	NM_001969.4	NP_001960.2	P55010	IF5_HUMAN	Epithelial(46;0.182)		12	1951	+		Melanoma(154;0.155)	425			Asp-rich (acidic).		Q53XB3|Q9H5N2|Q9UG48	Silent	SNP	ENST00000216554.3	37	c.1275C>T	CCDS9980.1																																																																																				0.398	EIF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415329.2	NM_001969		6	80	0	0	0	0.27861	0	6	80					T	103807368	C	T	103807368	2	4	95	1	0	0	0	0	0	0	0	1	5040	477	17	3		3	EIF5	14	103807368	Silent	SNP	C	TCGA-EJ-7783-01A-11D-2114-08	40353469	103807368	3542172	34	5359											
ISLR	3671	broad.mit.edu	37	chr15	74467874	74467874	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acgccgctgagccgcctgccGccactgccatgctcggcgcc	4	5	12	20	6	0	1	0	1	0	0	1	1	0	1	7	1	4	2	7	1	0	0	rs554846282		TCGA-EJ-7783-01A-11D-2114-08	TCGA-EJ-7783-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9221a776-a241-48a2-b486-98902a8628f8	2ef588a2-879b-49c7-b880-227f72467804	g.chr15:74467874G>A	ENST00000249842.3	+	2	1032	c.675G>A	c.(673-675)ccG>ccA	p.P225P	ISLR_ENST00000395118.1_Silent_p.P225P|RP11-665J16.1_ENST00000561647.1_RNA	NM_005545.3	NP_005536.1	O14498	ISLR_HUMAN	immunoglobulin superfamily containing leucine-rich repeat	225	LRRCT.				cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)				central_nervous_system(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)	20						GCCGCCTGCCGCCACTGCCAT	0.657													G|||	1	0.000199681	0	0	5008	,	,		18047	0.001		0	False		,,,				2504	0					ENST00000249842.3																			0				central_nervous_system(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)	20						c.(673-675)ccG>ccA		immunoglobulin superfamily containing leucine-rich repeat							32	31	31					15																	74467874		2192	4291	6483	SO:0001819	synonymous_variant	3671				cell adhesion	extracellular region		g.chr15:74467874G>A	AB003184	CCDS10260.1	15q23-q24	2013-01-11			ENSG00000129009	ENSG00000129009		"Immunoglobulin superfamily / I-set domain containing"	6133	protein-coding gene	gene with protein product		602059				9325048	Standard	NM_005545		Approved	HsT17563	uc002axh.1	O14498	OTTHUMG00000137623	ENST00000249842.3:c.675G>A	15.37:g.74467874G>A						RP11-665J16.1_ENST00000561647.1_RNA|ISLR_ENST00000395118.1_Silent_p.P225P	p.P225P	NM_005545.3	NP_005536.1	O14498	ISLR_HUMAN			2	1032	+			225			LRRCT.			Silent	SNP	ENST00000249842.3	37	c.675G>A	CCDS10260.1																																																																																				0.657	ISLR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269044.1	NM_005545		7	56	0	0	0	0.307466	0	7	56					A	74467874	G	A	74467874	2	1	95	1	0	0	0	0	0	0	0	1	7858	1074	38	1		1	ISLR	15	74467874	Silent	SNP	G	TCGA-EJ-7783-01A-11D-2114-08		74467874	28063518	35	5360											
WDR90	197335	broad.mit.edu	37	chr16	703785	703785	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cttctctgcggggttggcaaGgaccaccacgggaggacggt	7	7	16	11	3	1	0	0	0	1	0	2	3	1	3	2	7	1	2	2	7	1	2			TCGA-EJ-7783-01A-11D-2114-08	TCGA-EJ-7783-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9221a776-a241-48a2-b486-98902a8628f8	2ef588a2-879b-49c7-b880-227f72467804	g.chr16:703785G>A	ENST00000293879.4	+	13	1419	c.1419G>A	c.(1417-1419)aaG>aaA	p.K473K	LA16c-349E10.1_ENST00000573609.1_RNA|WDR90_ENST00000549091.1_Silent_p.K473K			Q96KV7	WDR90_HUMAN	WD repeat domain 90	473										endometrium(4)|kidney(3)|large_intestine(2)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	37		Hepatocellular(780;0.0218)				GGGTTGGCAAGGACCACCACG	0.642																																						ENST00000549091.1																			0				endometrium(4)|kidney(3)|large_intestine(2)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	37						c.(1417-1419)aaG>aaA		WD repeat domain 90							38	45	43					16																	703785		1980	4156	6136	SO:0001819	synonymous_variant	197335							g.chr16:703785G>A	AB067511	CCDS42092.1	16p13.3	2013-01-09			ENSG00000161996	ENSG00000161996		"WD repeat domain containing"	26960	protein-coding gene	gene with protein product			"chromosome 16 open reading frame 17", "chromosome 16 open reading frame 15", "chromosome 16 open reading frame 16", "chromosome 16 open reading frame 19", "chromosome 16 open reading frame 18"	C16orf17, C16orf15, C16orf16, C16orf19, C16orf18		11572484, 11157797	Standard	XM_005255160		Approved	FLJ36483, KIAA1924	uc002cii.1	Q96KV7	OTTHUMG00000048040	ENST00000293879.4:c.1419G>A	16.37:g.703785G>A						WDR90_ENST00000293879.4_Silent_p.K473K	p.K473K	NM_145294.4	NP_660337.3	Q96KV7	WDR90_HUMAN			13	1511	+		Hepatocellular(780;0.0218)	473					Q0VA87|Q0VA88|Q6P048|Q6ZMS1|Q6ZTH1|Q8N202|Q8N221|Q8NBB8|Q96PW4|Q96S18	Silent	SNP	ENST00000293879.4	37	c.1419G>A	CCDS42092.1																																																																																				0.642	WDR90-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000404335.1	NM_145294		3	77	0	0	0	0.115264	0	3	77					A	703785	G	A	703785	2	1	95	1	0	0	0	0	0	0	0	1	17334	991	35	3		3	WDR90	16	703785	Silent	SNP	G	TCGA-EJ-7783-01A-11D-2114-08		703785	89650968	36	5361											
SEPHS2	22928	broad.mit.edu	37	chr16	30456579	30456579	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cgtagaggtcactcagcacgTtggcacaagctatgcgcccc	9	7	11	14	3	2	1	2	0	0	1	2	1	2	1	2	2	3	5	2	2	3	3	rs376948016		TCGA-EJ-7783-01A-11D-2114-08	TCGA-EJ-7783-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9221a776-a241-48a2-b486-98902a8628f8	2ef588a2-879b-49c7-b880-227f72467804	g.chr16:30456579T>A	ENST00000478753.2	-	1	923	c.470A>T	c.(469-471)aAc>aTc	p.N157I	SEPHS2_ENST00000500504.2_Missense_Mutation_p.N157I|SEPHS2_ENST00000542752.1_Missense_Mutation_p.N100I			Q99611	SPS2_HUMAN	selenophosphate synthetase 2	157					selenocysteine biosynthetic process (GO:0016260)		ATP binding (GO:0005524)|selenide, water dikinase activity (GO:0004756)			breast(3)|cervix(1)|kidney(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(1)	10						ACTCAGCACGTTGGCACAAGC	0.542																																					Esophageal Squamous(81;1142 1261 11202 24614 35697)	ENST00000478753.2																			0				breast(3)|cervix(1)|kidney(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(1)	10						c.(469-471)aAc>aTc		selenophosphate synthetase 2							95	92	93					16																	30456579		2098	4226	6324	SO:0001583	missense	22928				selenocysteine biosynthetic process		ATP binding|selenide, water dikinase activity	g.chr16:30456579T>A	BC002381		16p11.2	2013-02-15			ENSG00000179918	ENSG00000179918			19686	protein-coding gene	gene with protein product		606218				10608886	Standard	NM_012248		Approved	SPS2, SPS2b	uc021tgl.1	Q99611	OTTHUMG00000176988	ENST00000478753.2:c.470A>T	16.37:g.30456579T>A	ENSP00000418669:p.Asn157Ile					SEPHS2_ENST00000500504.2_Missense_Mutation_p.N157I|SEPHS2_ENST00000542752.1_Missense_Mutation_p.N100I	p.N157I			Q99611	SPS2_HUMAN			1	923	-			157					Q9BUQ2	Missense_Mutation	SNP	ENST00000478753.2	37	c.470A>T		.	.	.	.	.	.	.	.	.	.	T	17.46	3.395331	0.62066	.	.	ENSG00000179918	ENST00000478753;ENST00000542752;ENST00000418751;ENST00000500504	T;T;T	0.30448	1.53;1.53;1.53	5.64	3.34	0.38264	PurM, N-terminal-like (1);AIR synthase-related protein (1);	0.092033	0.64402	N	0.000001	T	0.59865	0.2225	M	0.91663	3.23	0.80722	D	1	D;D	0.76494	0.97;0.999	D;D	0.79784	0.946;0.993	T	0.63681	-0.6582	10	0.87932	D	0	-10.8222	9.7018	0.40192	0.2767:0.0:0.0:0.7233	.	157;100	Q99611;F5H8F9	SPS2_HUMAN;.	I	157;100;108;157	ENSP00000418669:N157I;ENSP00000443601:N100I;ENSP00000426234:N157I	ENSP00000390233:N108I	N	-	2	0	SEPHS2	30364080	1.000000	0.71417	0.998000	0.56505	0.901000	0.52897	7.909000	0.87444	0.471000	0.27319	-0.333000	0.08304	AAC		0.542	SEPHS2-001	KNOWN	basic|seleno	protein_coding	protein_coding	OTTHUMT00000109640.11	NM_012248		16	92	0	0	0	0.539581	0	16	92					A	30456579	T	A	30456579	3	1	95	1	0	0	0	0	1	0	0	0	14055	1725	60	5	880	5	SEPHS2	16	30456579	Missense_Mutation	SNP	T	TCGA-EJ-7783-01A-11D-2114-08	29752794	30456579	59898174	37	5362											
C17orf68	80169	broad.mit.edu	37	chr17	8138502	8138502	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagtgagccccaggcttctgAcgagagaagctttgaagcag	11	7	14	9	1	1	4	0	3	1	1	1	7	1	4	2	1	3	3	2	1	2	2			TCGA-EJ-7783-01A-11D-2114-08	TCGA-EJ-7783-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9221a776-a241-48a2-b486-98902a8628f8	2ef588a2-879b-49c7-b880-227f72467804	g.chr17:8138502A>C	ENST00000315684.8	-	8	1315	c.1308T>G	c.(1306-1308)cgT>cgG	p.R436R	CTC1_ENST00000581671.1_5'Flank	NM_025099.5	NP_079375.3	Q2NKJ3	CTC1_HUMAN	CTS telomere maintenance complex component 1	436					bone marrow development (GO:0048539)|cellular response to DNA damage stimulus (GO:0006974)|hematopoietic stem cell proliferation (GO:0071425)|multicellular organism growth (GO:0035264)|positive regulation of DNA replication (GO:0045740)|positive regulation of fibroblast proliferation (GO:0048146)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|replicative senescence (GO:0090399)|spleen development (GO:0048536)|telomere maintenance (GO:0000723)|telomere maintenance via telomere lengthening (GO:0010833)|thymus development (GO:0048538)	nuclear chromosome, telomeric region (GO:0000784)|nucleus (GO:0005634)|Stn1-Ten1 complex (GO:0070188)	single-stranded DNA binding (GO:0003697)			NS(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(8)|ovary(1)|skin(4)	29						CAGGCTTCTGACGAGAGAAGC	0.622																																						ENST00000315684.8																			0				NS(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(8)|ovary(1)|skin(4)	29						c.(1306-1308)cgT>cgG		CTS telomere maintenance complex component 1							70	78	75					17																	8138502		2047	4184	6231	SO:0001819	synonymous_variant	80169				positive regulation of DNA replication|telomere maintenance	Stn1-Ten1 complex	protein binding|single-stranded DNA binding	g.chr17:8138502A>C	AL831955	CCDS42259.1	17p13.1	2011-02-21	2011-02-21	2011-02-21	ENSG00000178971	ENSG00000178971			26169	protein-coding gene	gene with protein product	"conserved telomere maintenance component 1", "alpha accessory factor 132", "conserved telomere capping protein 1"	613129	"tmp494178", "chromosome 17 open reading frame 68"	C17orf68		19854130, 19854131	Standard	NM_025099		Approved	FLJ22170, AAF132	uc002gkq.4	Q2NKJ3		ENST00000315684.8:c.1308T>G	17.37:g.8138502A>C							p.R436R	NM_025099.5	NP_079375.3	Q2NKJ3	CTC1_HUMAN			8	1315	-			436					B3KR66|C9JEX5|Q1PCD1|Q2TBE3|Q8N3S6|Q9H6L0	Silent	SNP	ENST00000315684.8	37	c.1308T>G	CCDS42259.1																																																																																				0.622	CTC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000442012.1	NM_025099		14	91	0	0	0	0.539581	0	14	91					C	8138502	A	C	8138502	2	2	95	1	0	0	0	0	0	0	0	1	1876	262	10	5		5	C17orf68	17	8138502	Silent	SNP	A	TCGA-EJ-7783-01A-11D-2114-08		8138502	73056708	38	5363			1	14		2	2	17	A		2.584217e-05
C17orf68	80169	broad.mit.edu	37	chr17	8138518	8138518	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tctgacgagagaagctttgaAgcagaacggcgccacggagg	12	5	15	9	4	1	4	0	2	1	2	1	7	1	5	1	3	3	2	1	3	3	1			TCGA-EJ-7783-01A-11D-2114-08	TCGA-EJ-7783-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9221a776-a241-48a2-b486-98902a8628f8	2ef588a2-879b-49c7-b880-227f72467804	g.chr17:8138518A>C	ENST00000315684.8	-	8	1299	c.1292T>G	c.(1291-1293)cTt>cGt	p.L431R	CTC1_ENST00000581671.1_5'Flank	NM_025099.5	NP_079375.3	Q2NKJ3	CTC1_HUMAN	CTS telomere maintenance complex component 1	431					bone marrow development (GO:0048539)|cellular response to DNA damage stimulus (GO:0006974)|hematopoietic stem cell proliferation (GO:0071425)|multicellular organism growth (GO:0035264)|positive regulation of DNA replication (GO:0045740)|positive regulation of fibroblast proliferation (GO:0048146)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|replicative senescence (GO:0090399)|spleen development (GO:0048536)|telomere maintenance (GO:0000723)|telomere maintenance via telomere lengthening (GO:0010833)|thymus development (GO:0048538)	nuclear chromosome, telomeric region (GO:0000784)|nucleus (GO:0005634)|Stn1-Ten1 complex (GO:0070188)	single-stranded DNA binding (GO:0003697)			NS(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(8)|ovary(1)|skin(4)	29						GAAGCTTTGAAGCAGAACGGC	0.617																																						ENST00000315684.8																			0				NS(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(8)|ovary(1)|skin(4)	29						c.(1291-1293)cTt>cGt		CTS telomere maintenance complex component 1							68	77	74					17																	8138518		2060	4193	6253	SO:0001583	missense	80169				positive regulation of DNA replication|telomere maintenance	Stn1-Ten1 complex	protein binding|single-stranded DNA binding	g.chr17:8138518A>C	AL831955	CCDS42259.1	17p13.1	2011-02-21	2011-02-21	2011-02-21	ENSG00000178971	ENSG00000178971			26169	protein-coding gene	gene with protein product	"conserved telomere maintenance component 1", "alpha accessory factor 132", "conserved telomere capping protein 1"	613129	"tmp494178", "chromosome 17 open reading frame 68"	C17orf68		19854130, 19854131	Standard	NM_025099		Approved	FLJ22170, AAF132	uc002gkq.4	Q2NKJ3		ENST00000315684.8:c.1292T>G	17.37:g.8138518A>C	ENSP00000313759:p.Leu431Arg						p.L431R	NM_025099.5	NP_079375.3	Q2NKJ3	CTC1_HUMAN			8	1299	-			431					B3KR66|C9JEX5|Q1PCD1|Q2TBE3|Q8N3S6|Q9H6L0	Missense_Mutation	SNP	ENST00000315684.8	37	c.1292T>G	CCDS42259.1	.	.	.	.	.	.	.	.	.	.	a	9.164	1.019478	0.19355	.	.	ENSG00000178971	ENST00000315684;ENST00000449476	D;D	0.86097	-2.07;-2.07	5.04	5.04	0.67666	.	0.361669	0.24869	N	0.034954	D	0.88043	0.6331	M	0.63428	1.95	0.09310	N	0.999997	D	0.55385	0.971	P	0.55577	0.779	T	0.82043	-0.0653	10	0.87932	D	0	-3.8521	11.0997	0.48166	1.0:0.0:0.0:0.0	.	431	Q2NKJ3	CTC1_HUMAN	R	431;396	ENSP00000313759:L431R;ENSP00000396018:L396R	ENSP00000313759:L431R	L	-	2	0	CTC1	8079243	0.275000	0.24201	0.037000	0.18230	0.061000	0.15899	3.396000	0.52565	2.124000	0.65301	0.487000	0.48397	CTT		0.617	CTC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000442012.1	NM_025099		18	93	0	0	0	0.592651	0	18	93					C	8138518	A	C	8138518	3	2	95	1	0	0	0	0	1	0	0	0	1876	72	3	5	2425	5	C17orf68	17	8138518	Missense_Mutation	SNP	A	TCGA-EJ-7783-01A-11D-2114-08	16	8138518	73056692	39	5364			1	14		2	2	17	A		2.584217e-05
MAP2K4	6416	broad.mit.edu	37	chr17	12032526	12032526	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgatcaactaacacaagtcgTgaaaggagatcctccgcagc	14	7	9	11	2	1	3	1	2	0	1	4	4	3	3	2	1	3	1	2	1	4	1			TCGA-EJ-7783-01A-11D-2114-08	TCGA-EJ-7783-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9221a776-a241-48a2-b486-98902a8628f8	2ef588a2-879b-49c7-b880-227f72467804	g.chr17:12032526T>A	ENST00000353533.5	+	9	1025	c.962T>A	c.(961-963)gTg>gAg	p.V321E	MAP2K4_ENST00000415385.3_Missense_Mutation_p.V332E	NM_003010.2	NP_003001.1	P45985	MP2K4_HUMAN	mitogen-activated protein kinase kinase 4	321	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|cellular response to mechanical stimulus (GO:0071260)|cellular response to sorbitol (GO:0072709)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|positive regulation of DNA replication (GO:0045740)|positive regulation of neuron apoptotic process (GO:0043525)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|dendrite cytoplasm (GO:0032839)|nucleus (GO:0005634)|perikaryon (GO:0043204)	ATP binding (GO:0005524)|JUN kinase kinase activity (GO:0008545)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)	p.0?(10)|p.?(1)		NS(1)|biliary_tract(2)|breast(22)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(26)|lung(15)|ovary(8)|pancreas(11)|skin(3)|stomach(2)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	100		all_cancers(5;0.0413)|Breast(5;0.000625)|all_epithelial(5;0.00978)|all_lung(20;0.0449)|Lung NSC(33;0.163)		Epithelial(2;4.12e-09)|all cancers(2;6.86e-07)|BRCA - Breast invasive adenocarcinoma(2;8.74e-07)|Colorectal(4;5.32e-05)|COAD - Colon adenocarcinoma(4;0.0039)|READ - Rectum adenocarcinoma(10;0.0681)		ACACAAGTCGTGAAAGGAGAT	0.413			"D, Mis, N"		"pancreatic, breast, colorectal"																																	ENST00000415385.3				Rec	yes		17	17p11.2	6416	"D, Mis, N"	mitogen-activated protein kinase kinase 4			E			"pancreatic, breast, colorectal"		11	Whole gene deletion(10)|Unknown(1)	p.0?(10)|p.?(1)	ovary(4)|breast(4)|biliary_tract(1)|lung(1)|pancreas(1)	NS(1)|biliary_tract(2)|breast(22)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(26)|lung(15)|ovary(8)|pancreas(11)|skin(3)|stomach(2)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						c.(994-996)gTg>gAg		mitogen-activated protein kinase kinase 4							96	88	91					17																	12032526		2203	4300	6503	SO:0001583	missense	6416				cellular response to mechanical stimulus|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol	ATP binding|JUN kinase kinase activity|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr17:12032526T>A	L36870	CCDS11162.1, CCDS62095.1	17p12	2012-03-23			ENSG00000065559	ENSG00000065559	2.7.12.2	"Mitogen-activated protein kinase cascade / Kinase kinases"	6844	protein-coding gene	gene with protein product		601335		SERK1		7716521	Standard	NM_003010		Approved	MEK4, JNKK1, PRKMK4, MKK4	uc002gnj.3	P45985		ENST00000353533.5:c.962T>A	17.37:g.12032526T>A	ENSP00000262445:p.Val321Glu					MAP2K4_ENST00000353533.5_Missense_Mutation_p.V321E	p.V332E			P45985	MP2K4_HUMAN		Epithelial(2;4.12e-09)|all cancers(2;6.86e-07)|BRCA - Breast invasive adenocarcinoma(2;8.74e-07)|Colorectal(4;5.32e-05)|COAD - Colon adenocarcinoma(4;0.0039)|READ - Rectum adenocarcinoma(10;0.0681)	10	1048	+		all_cancers(5;0.0413)|Breast(5;0.000625)|all_epithelial(5;0.00978)|all_lung(20;0.0449)|Lung NSC(33;0.163)	321			Protein kinase.		B2R7N7|B3KYB2|D3DTS5|Q5U0B8|Q6FHX4|Q6P9H2|Q6PIE6	Missense_Mutation	SNP	ENST00000353533.5	37	c.995T>A	CCDS11162.1	.	.	.	.	.	.	.	.	.	.	T	27.3	4.820585	0.90873	.	.	ENSG00000065559	ENST00000353533;ENST00000415385;ENST00000538465;ENST00000536413	T;T	0.65364	-0.15;-0.15	5.1	5.1	0.69264	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.73753	0.3627	L	0.49256	1.55	0.80722	D	1	D;D;D	0.89917	0.998;1.0;1.0	D;D;D	0.80764	0.954;0.993;0.994	T	0.76487	-0.2941	10	0.87932	D	0	.	14.2917	0.66284	0.0:0.0:0.0:1.0	.	193;332;321	B7ZA62;P45985-2;P45985	.;.;MP2K4_HUMAN	E	321;332;298;193	ENSP00000262445:V321E;ENSP00000410402:V332E	ENSP00000262445:V321E	V	+	2	0	MAP2K4	11973251	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.813000	0.86123	2.263000	0.75096	0.533000	0.62120	GTG		0.413	MAP2K4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000441226.1			14	62	0	0	0	0.457914	0	14	62					A	12032526	T	A	12032526	3	1	95	1	0	0	0	0	1	0	0	0	9239	1696	59	5	996	5	MAP2K4	17	12032526	Missense_Mutation	SNP	T	TCGA-EJ-7783-01A-11D-2114-08	3894008	12032526	69162684	40	5365											
GAST	2520	broad.mit.edu	37	chr17	39871695	39871695	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cctttgcagacgagatgcagCgactgtgtgtgtatgtgctg	7	12	14	8	2	0	2	0	0	0	2	0	4	0	2	1	0	4	4	1	0	1	2			TCGA-EJ-7783-01A-11D-2114-08	TCGA-EJ-7783-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9221a776-a241-48a2-b486-98902a8628f8	2ef588a2-879b-49c7-b880-227f72467804	g.chr17:39871695C>T	ENST00000329402.3	+	2	74	c.7C>T	c.(7-9)Cga>Tga	p.R3*	RNA5SP442_ENST00000365050.1_RNA|JUP_ENST00000540235.1_Intron	NM_000805.4	NP_000796.1	P01350	GAST_HUMAN	gastrin	3			R -> P (in dbSNP:rs34309618).		G-protein coupled receptor signaling pathway (GO:0007186)|signal transduction (GO:0007165)	extracellular region (GO:0005576)	hormone activity (GO:0005179)			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)	7		Breast(137;0.000307)	BRCA - Breast invasive adenocarcinoma(4;0.0677)			CGAGATGCAGCGACTGTGTGT	0.592																																						ENST00000329402.3																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(3)	7						c.(7-9)Cga>Tga		gastrin							283	279	280					17																	39871695		2203	4300	6503	SO:0001587	stop_gained	2520					extracellular region	hormone activity	g.chr17:39871695C>T		CCDS11404.1	17q21.2	2013-02-26	2005-06-14	2005-06-14	ENSG00000184502	ENSG00000184502		"Endogenous ligands"	4164	protein-coding gene	gene with protein product	"preprogastrin"	137250		GAS			Standard	NM_000805		Approved		uc002hxl.3	P01350	OTTHUMG00000133496	ENST00000329402.3:c.7C>T	17.37:g.39871695C>T	ENSP00000331358:p.Arg3*					JUP_ENST00000540235.1_Intron	p.R3*	NM_000805.4	NP_000796.1	P01350	GAST_HUMAN	BRCA - Breast invasive adenocarcinoma(4;0.0677)		2	74	+		Breast(137;0.000307)	3		R -> P (in dbSNP:rs34309618).			P78463|P78464	Nonsense_Mutation	SNP	ENST00000329402.3	37	c.7C>T	CCDS11404.1	.	.	.	.	.	.	.	.	.	.	C	15.95	2.984941	0.53934	.	.	ENSG00000184502	ENST00000329402	.	.	.	4.41	2.22	0.28083	.	0.933817	0.08817	N	0.889406	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-1.9714	9.2442	0.37515	0.389:0.611:0.0:0.0	.	.	.	.	X	3	.	ENSP00000331358:R3X	R	+	1	2	GAST	37125221	0.001000	0.12720	0.005000	0.12908	0.161000	0.22273	0.676000	0.25247	1.025000	0.39708	0.655000	0.94253	CGA		0.592	GAST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257409.1			42	342	0	0	0	0.870114	0	42	342					T	39871695	C	T	39871695	4	4	95	1	0	0	0	0	0	1	0	0	6252	760	27	1	9	1	GAST	17	39871695	Nonsense_Mutation	SNP	C	TCGA-EJ-7783-01A-11D-2114-08	27839169	39871695	41323515	41	5366											
ELP2	55250	broad.mit.edu	37	chr18	33739979	33739979	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tggcctgaagttcaaaaactGtaagttaaactgtatttagc	14	13	8	6	0	1	1	1	1	0	0	1	1	1	1	1	1	3	4	1	1	8	6			TCGA-EJ-7783-01A-11D-2114-08	TCGA-EJ-7783-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9221a776-a241-48a2-b486-98902a8628f8	2ef588a2-879b-49c7-b880-227f72467804	g.chr18:33739979G>T	ENST00000358232.6	+	16	1751		c.e16+1		ELP2_ENST00000442325.2_Splice_Site|ELP2_ENST00000351393.6_Splice_Site|ELP2_ENST00000423854.2_Splice_Site|ELP2_ENST00000542824.1_Splice_Site|ELP2_ENST00000542050.1_Intron|ELP2_ENST00000350494.6_Splice_Site	NM_018255.2	NP_060725.1	Q6IA86	ELP2_HUMAN	elongator acetyltransferase complex subunit 2						chromatin organization (GO:0006325)|regulation of JAK-STAT cascade (GO:0046425)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription elongation from RNA polymerase II promoter (GO:0006368)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|Elongator holoenzyme complex (GO:0033588)|nucleolus (GO:0005730)|transcription elongation factor complex (GO:0008023)				NS(1)|breast(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|skin(2)|urinary_tract(2)	30						TTCAAAAACTGTAAGTTAAAC	0.383																																						ENST00000358232.6																			0				NS(1)|breast(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|skin(2)|urinary_tract(2)	30						c.e16+1		elongator acetyltransferase complex subunit 2							81	80	81					18																	33739979		2203	4300	6503	SO:0001630	splice_region_variant	55250				regulation of transcription from RNA polymerase II promoter	Golgi apparatus|transcription elongation factor complex		g.chr18:33739979G>T	AK001741	CCDS11918.1, CCDS56065.1, CCDS56066.1, CCDS56067.1, CCDS56068.1, CCDS56069.1	18q12.1	2013-01-10	2012-08-08	2007-04-20	ENSG00000134759	ENSG00000134759		"Elongator acetyltransferase complex subunits", "WD repeat domain containing"	18248	protein-coding gene	gene with protein product			"signal transducer and activator of transcription 3 interacting protein 1", "elongation protein 2 homolog (S. cerevisiae)"	STATIP1		11714725, 10954736	Standard	NM_001242875		Approved	FLJ10879, StIP	uc002kzk.2	Q6IA86	OTTHUMG00000132589	ENST00000358232.6:c.1688+1G>T	18.37:g.33739979G>T						ELP2_ENST00000442325.2_Splice_Site|ELP2_ENST00000542050.1_Intron|ELP2_ENST00000350494.6_Splice_Site|ELP2_ENST00000423854.2_Splice_Site|ELP2_ENST00000542824.1_Splice_Site|ELP2_ENST00000351393.6_Splice_Site		NM_018255.2	NP_060725.1	Q6IA86	ELP2_HUMAN			16	1751	+								A8KAI6|B4DTG0|B4DXP0|E7EP23|E9PCX0|Q53GZ0|Q687Y8|Q8N5C2|Q96GV4|Q96PI7|Q9H9N0|Q9NV81	Splice_Site	SNP	ENST00000358232.6	37		CCDS11918.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.315005	0.81358	.	.	ENSG00000134759	ENST00000358232;ENST00000351393;ENST00000442325;ENST00000423854;ENST00000350494;ENST00000542824	.	.	.	5.48	5.48	0.80851	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.2061	0.86918	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ELP2	31993977	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.318000	0.96334	2.745000	0.94114	0.484000	0.47621	.		0.383	ELP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255800.2	NM_018255	Intron	5	55	1	0	0.307466	0.307466	0.3231	5	55					T	33739979	G	T	33739979	5	4	95	1	0	0	0	0	0	0	1	0	5080	1391	48	5	1751	5	ELP2	18	33739979	Splice_Site	SNP	G	TCGA-EJ-7783-01A-11D-2114-08		33739979	44337269	42	5367											
TXNL1	9352	broad.mit.edu	37	chr18	54278306	54278306	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ttcttgttgtttcctcttcaCcttgattcgactgaacaaat	8	18	5	10	1	3	2	1	2	2	0	5	3	4	2	2	0	1	2	2	0	2	7			TCGA-EJ-7783-01A-11D-2114-08	TCGA-EJ-7783-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9221a776-a241-48a2-b486-98902a8628f8	2ef588a2-879b-49c7-b880-227f72467804	g.chr18:54278306C>T	ENST00000217515.6	-	7	962	c.758G>A	c.(757-759)gGt>gAt	p.G253D	TXNL1_ENST00000540155.1_Missense_Mutation_p.G130D|TXNL1_ENST00000590954.1_Missense_Mutation_p.G253D	NM_004786.2	NP_004777.1	O43396	TXNL1_HUMAN	thioredoxin-like 1	253	PITH. {ECO:0000255|PROSITE- ProRule:PRU00864}.				cell redox homeostasis (GO:0045454)|glycerol ether metabolic process (GO:0006662)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|proteasome complex (GO:0000502)	disulfide oxidoreductase activity (GO:0015036)|protein disulfide oxidoreductase activity (GO:0015035)			endometrium(1)|large_intestine(1)|lung(1)|urinary_tract(1)	4				READ - Rectum adenocarcinoma(59;0.193)|Colorectal(16;0.211)		TTCCTCTTCACCTTGATTCGA	0.294																																						ENST00000217515.6																			0				endometrium(1)|large_intestine(1)|lung(1)|urinary_tract(1)	4						c.(757-759)gGt>gAt		thioredoxin-like 1							88	85	86					18																	54278306		2203	4297	6500	SO:0001583	missense	9352				cell redox homeostasis|electron transport chain|glycerol ether metabolic process|transport	cytoplasm	electron carrier activity|protein disulfide oxidoreductase activity	g.chr18:54278306C>T	AF003938	CCDS11961.1	18q21.31	2011-01-17	2004-05-06	2004-05-07	ENSG00000091164	ENSG00000091164			12436	protein-coding gene	gene with protein product	"thioredoxin-like, 32kD"	603049	"thioredoxin-like, 32kDa"	TXNL		9473519, 9668102	Standard	NM_004786		Approved	Txl, TRP32	uc002lgg.3	O43396	OTTHUMG00000132722	ENST00000217515.6:c.758G>A	18.37:g.54278306C>T	ENSP00000217515:p.Gly253Asp					TXNL1_ENST00000540155.1_Missense_Mutation_p.G130D|TXNL1_ENST00000590954.1_Missense_Mutation_p.G253D	p.G253D	NM_004786.2	NP_004777.1	O43396	TXNL1_HUMAN		READ - Rectum adenocarcinoma(59;0.193)|Colorectal(16;0.211)	7	962	-			253			PITH.			Missense_Mutation	SNP	ENST00000217515.6	37	c.758G>A	CCDS11961.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.945721	0.73672	.	.	ENSG00000091164	ENST00000217515;ENST00000540155	T	0.24538	1.85	5.78	5.78	0.91487	Proteasome-interacting thioredoxin-like domain, C-terminal (2);Galactose-binding domain-like (1);	0.045533	0.85682	D	0.000000	T	0.42223	0.1193	M	0.83012	2.62	0.80722	D	1	B;B	0.14805	0.01;0.011	B;B	0.31547	0.132;0.091	T	0.31110	-0.9955	10	0.44086	T	0.13	.	19.6075	0.95586	0.0:1.0:0.0:0.0	.	253;253	B2R960;O43396	.;TXNL1_HUMAN	D	253;130	ENSP00000217515:G253D	ENSP00000217515:G253D	G	-	2	0	TXNL1	52429304	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.151000	0.77411	2.749000	0.94314	0.655000	0.94253	GGT		0.294	TXNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256064.2			9	41	0	0	0	0.361761	0	9	41					T	54278306	C	T	54278306	3	4	95	1	0	0	0	0	1	0	0	0	16801	507	18	3	119	3	TXNL1	18	54278306	Missense_Mutation	SNP	C	TCGA-EJ-7783-01A-11D-2114-08	20538327	54278306	23798942	43	5368											
FAM187B	148109	broad.mit.edu	37	chr19	35718888	35718888	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atggatcctaagggacagtcGagccacacaaattctgtctt	12	10	9	10	1	2	0	0	0	2	0	4	3	3	2	2	2	1	0	2	2	2	3			TCGA-EJ-7783-01A-11D-2114-08	TCGA-EJ-7783-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9221a776-a241-48a2-b486-98902a8628f8	2ef588a2-879b-49c7-b880-227f72467804	g.chr19:35718888G>A	ENST00000324675.3	-	1	744	c.696C>T	c.(694-696)ctC>ctT	p.L232L		NM_152481.1	NP_689694.1	Q17R55	F187B_HUMAN	family with sequence similarity 187, member B	232						integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	9						AGGGACAGTCGAGCCACACAA	0.502																																						ENST00000324675.3																			0				breast(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	9						c.(694-696)ctC>ctT		family with sequence similarity 187, member B							79	65	70					19																	35718888		2203	4300	6503	SO:0001819	synonymous_variant	148109					integral to membrane		g.chr19:35718888G>A	AK098526	CCDS12448.1	19q13.12	2008-10-16	2008-10-16	2008-10-16	ENSG00000177558	ENSG00000177558			26366	protein-coding gene	gene with protein product			"transmembrane protein 162"	TMEM162			Standard	NM_152481		Approved	FLJ25660	uc002nyk.1	Q17R55	OTTHUMG00000164450	ENST00000324675.3:c.696C>T	19.37:g.35718888G>A							p.L232L	NM_152481.1	NP_689694.1	Q17R55	F187B_HUMAN			1	744	-			232					Q8N7G6	Silent	SNP	ENST00000324675.3	37	c.696C>T	CCDS12448.1																																																																																				0.502	FAM187B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378854.1	NM_152481		6	21	0	0	0	0.248553	0	6	21					A	35718888	G	A	35718888	2	1	95	1	0	0	0	0	0	0	0	1	5513	1045	37	2		2	FAM187B	19	35718888	Silent	SNP	G	TCGA-EJ-7783-01A-11D-2114-08		35718888	23410095	44	5369											
CYP2B6	1555	broad.mit.edu	37	chr19	41512860	41512860	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtccattaccgccaacatcAtctgctccatcgtctttgga	9	12	6	14	2	3	0	1	0	2	0	6	1	5	1	4	1	3	1	4	1	2	2			TCGA-EJ-7783-01A-11D-2114-08	TCGA-EJ-7783-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9221a776-a241-48a2-b486-98902a8628f8	2ef588a2-879b-49c7-b880-227f72467804	g.chr19:41512860A>G	ENST00000324071.4	+	4	542	c.535A>G	c.(535-537)Atc>Gtc	p.I179V	CYP2B6_ENST00000598834.1_3'UTR|CYP2B6_ENST00000593831.1_Intron|CYP2B6_ENST00000330446.5_Intron	NM_000767.4	NP_000758.1	P20813	CP2B6_HUMAN	cytochrome P450, family 2, subfamily B, polypeptide 6	179					cellular ketone metabolic process (GO:0042180)|drug metabolic process (GO:0017144)|exogenous drug catabolic process (GO:0042738)|oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen (GO:0016712)			NS(1)|breast(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	28			LUSC - Lung squamous cell carcinoma(20;0.00322)		Amitriptyline(DB00321)|Amlodipine(DB00381)|Amprenavir(DB00701)|Antipyrine(DB01435)|Artemether(DB06697)|Atorvastatin(DB01076)|Azelastine(DB00972)|Benzphetamine(DB00865)|Benzyl alcohol(DB06770)|Bifonazole(DB04794)|Brompheniramine(DB00835)|Bupropion(DB01156)|Carbamazepine(DB00564)|Carbinoxamine(DB00748)|Cholecalciferol(DB00169)|Cinnarizine(DB00568)|Cisapride(DB00604)|Cisplatin(DB00515)|Citalopram(DB00215)|Clobazam(DB00349)|Clofibrate(DB00636)|Clopidogrel(DB00758)|Clotiazepam(DB01559)|Clotrimazole(DB00257)|Colchicine(DB01394)|Cyclophosphamide(DB00531)|Desipramine(DB01151)|Dexamethasone(DB01234)|Dextromethorphan(DB00514)|Diazepam(DB00829)|Diclofenac(DB00586)|Diphenhydramine(DB01075)|Domperidone(DB01184)|Doxorubicin(DB00997)|Efavirenz(DB00625)|Enzalutamide(DB08899)|Epinastine(DB00751)|Erythromycin(DB00199)|Estrone(DB00655)|Ethanol(DB00898)|Ethylmorphine(DB01466)|Flunarizine(DB04841)|Flunitrazepam(DB01544)|Fluoxetine(DB00472)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Fosphenytoin(DB01320)|Halothane(DB01159)|Ifosfamide(DB01181)|Imipramine(DB00458)|Irinotecan(DB00762)|Isoflurane(DB00753)|Itraconazole(DB01167)|Ketamine(DB01221)|Ketobemidone(DB06738)|Ketoconazole(DB01026)|Lidocaine(DB00281)|Loperamide(DB00836)|Lopinavir(DB01601)|Lorcaserin(DB04871)|Malathion(DB00772)|Memantine(DB01043)|Methadone(DB00333)|Methimazole(DB00763)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyltestosterone(DB06710)|Mexiletine(DB00379)|Mianserin(DB06148)|Miconazole(DB01110)|Midazolam(DB00683)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicardipine(DB00622)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nitric Oxide(DB00435)|Orphenadrine(DB01173)|Ospemifene(DB04938)|Paroxetine(DB00715)|Perhexiline(DB01074)|Permethrin(DB04930)|Perphenazine(DB00850)|Pethidine(DB00454)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Prasugrel(DB06209)|Primidone(DB00794)|Promethazine(DB01069)|Propofol(DB00818)|Quinidine(DB00908)|Raloxifene(DB00481)|Regorafenib(DB08896)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Ritonavir(DB00503)|Ropivacaine(DB00296)|Roxithromycin(DB00778)|Selegiline(DB01037)|Sertraline(DB01104)|Sevoflurane(DB01236)|Simvastatin(DB00641)|Sorafenib(DB00398)|Sulfaphenazole(DB06729)|Sulfinpyrazone(DB01138)|Tamoxifen(DB00675)|Temazepam(DB00231)|Testosterone(DB00624)|Thiotepa(DB04572)|Ticlopidine(DB00208)|Tramadol(DB00193)|Tretinoin(DB00755)|Valproic Acid(DB00313)|Venlafaxine(DB00285)|Verapamil(DB00661)	CGCCAACATCATCTGCTCCAT	0.498																																						ENST00000324071.4																			0				NS(1)|breast(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	28						c.(535-537)Atc>Gtc		cytochrome P450, family 2, subfamily B, polypeptide 6	Bupropion(DB01156)|Butalbital(DB00241)|Carbamazepine(DB00564)|Clopidogrel(DB00758)|Cyclophosphamide(DB00531)|Efavirenz(DB00625)|Ifosfamide(DB01181)|Memantine(DB01043)|Meperidine(DB00454)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Midazolam(DB00683)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicotine(DB00184)|Orphenadrine(DB01173)|Phenytoin(DB00252)|Propofol(DB00818)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Ticlopidine(DB00208)|Troleandomycin(DB01361)						110	95	100					19																	41512860		2203	4300	6503	SO:0001583	missense	1555				cellular ketone metabolic process|exogenous drug catabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding	g.chr19:41512860A>G	AF182277	CCDS12570.1	19q13.2	2013-07-25	2003-01-14		ENSG00000197408	ENSG00000197408		"Cytochrome P450s"	2615	protein-coding gene	gene with protein product		123930	"cytochrome P450, subfamily IIB (phenobarbital-inducible), polypeptide 6", "cytochrome P450, family 2, subfamily B", "cytochrome P450, subfamily IIB (phenobarbital-inducible)"	CYP2B		7668294, 15128046	Standard	NM_000767		Approved	CPB6, CYPIIB6	uc002opr.1	P20813	OTTHUMG00000182714	ENST00000324071.4:c.535A>G	19.37:g.41512860A>G	ENSP00000324648:p.Ile179Val					CYP2B6_ENST00000330446.5_Intron|CYP2B6_ENST00000593831.1_Intron|CYP2B6_ENST00000598834.1_3'UTR	p.I179V	NM_000767.4	NP_000758.1	P20813	CP2B6_HUMAN	LUSC - Lung squamous cell carcinoma(20;0.00322)		4	542	+			179					B4DWP3|Q2V565|Q9UK46	Missense_Mutation	SNP	ENST00000324071.4	37	c.535A>G	CCDS12570.1	.	.	.	.	.	.	.	.	.	.	.	13.94	2.386107	0.42308	.	.	ENSG00000197408	ENST00000324071	T	0.73047	-0.71	4.48	4.48	0.54585	.	0.000000	0.85682	D	0.000000	T	0.72914	0.3520	M	0.82923	2.615	0.80722	D	1	B	0.28801	0.223	B	0.31547	0.132	T	0.75997	-0.3120	10	0.72032	D	0.01	.	11.8072	0.52163	1.0:0.0:0.0:0.0	.	179	P20813	CP2B6_HUMAN	V	179	ENSP00000324648:I179V	ENSP00000324648:I179V	I	+	1	0	CYP2B6	46204700	1.000000	0.71417	1.000000	0.80357	0.481000	0.33189	6.725000	0.74752	1.901000	0.55032	0.348000	0.21847	ATC		0.498	CYP2B6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463260.1	NM_000767		3	42	0	0	0	0.115264	0	3	42					G	41512860	A	G	41512860	3	3	95	1	0	0	0	0	1	0	0	0	4164	217	8	4	549	4	CYP2B6	19	41512860	Missense_Mutation	SNP	A	TCGA-EJ-7783-01A-11D-2114-08	5793972	41512860	17616123	45	5370											
PRKCG	5582	broad.mit.edu	37	chr19	54395835	54395835	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgggaccggacctcccgcaaCgacttcatgggggccatgtc	7	7	13	14	3	1	0	1	0	0	0	3	3	2	2	4	4	1	1	4	4	1	1			TCGA-EJ-7783-01A-11D-2114-08	TCGA-EJ-7783-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9221a776-a241-48a2-b486-98902a8628f8	2ef588a2-879b-49c7-b880-227f72467804	g.chr19:54395835C>T	ENST00000263431.3	+	7	1041	c.759C>T	c.(757-759)aaC>aaT	p.N253N	PRKCG_ENST00000536044.1_Silent_p.N253N|PRKCG_ENST00000540413.1_Silent_p.N253N|PRKCG_ENST00000542049.1_Silent_p.N140N	NM_002739.3	NP_002730.1	P05129	KPCG_HUMAN	protein kinase C, gamma	253	C2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|cell death (GO:0008219)|chemosensory behavior (GO:0007635)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|innervation (GO:0060384)|intracellular signal transduction (GO:0035556)|learning or memory (GO:0007611)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of protein ubiquitination (GO:0031397)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphorylation (GO:0016310)|platelet activation (GO:0030168)|positive regulation of mismatch repair (GO:0032425)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|response to morphine (GO:0043278)|response to pain (GO:0048265)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)|dendrite (GO:0030425)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|synaptic membrane (GO:0097060)	ATP binding (GO:0005524)|calcium-dependent protein kinase C activity (GO:0004698)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|zinc ion binding (GO:0008270)			large_intestine(1)|lung(4)|ovary(2)|pancreas(2)|skin(1)	10	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0521)	Tamoxifen(DB00675)	CCTCCCGCAACGACTTCATGG	0.672																																						ENST00000263431.3																			0				large_intestine(1)|lung(4)|ovary(2)|pancreas(2)|skin(1)	10						c.(757-759)aaC>aaT		protein kinase C, gamma							57	45	49					19																	54395835		2203	4300	6503	SO:0001819	synonymous_variant	5582				activation of phospholipase C activity|cell death|intracellular signal transduction|negative regulation of protein catabolic process|negative regulation of protein ubiquitination|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of mismatch repair|synaptic transmission	cytosol	ATP binding|protein kinase C activity|zinc ion binding	g.chr19:54395835C>T	M13977	CCDS12867.1	19q13.4	2014-09-17			ENSG00000126583	ENSG00000126583	2.7.11.1		9402	protein-coding gene	gene with protein product	"PKC-gamma"	176980		PKCG, SCA14		8432525, 3755548	Standard	NM_002739		Approved	PKCC, MGC57564	uc002qcq.1	P05129	OTTHUMG00000064846	ENST00000263431.3:c.759C>T	19.37:g.54395835C>T						PRKCG_ENST00000536044.1_Silent_p.N253N|PRKCG_ENST00000542049.1_Silent_p.N140N|PRKCG_ENST00000540413.1_Silent_p.N253N	p.N253N	NM_002739.3	NP_002730.1	P05129	KPCG_HUMAN		GBM - Glioblastoma multiforme(134;0.0521)	7	1041	+	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)		253			C2.		B7Z8Q0	Silent	SNP	ENST00000263431.3	37	c.759C>T	CCDS12867.1																																																																																				0.672	PRKCG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139233.3	NM_002739		8	37	0	0	0	0.361761	0	8	37					T	54395835	C	T	54395835	2	4	95	1	0	0	0	0	0	0	0	1	12512	535	19	1		1	PRKCG	19	54395835	Silent	SNP	C	TCGA-EJ-7783-01A-11D-2114-08	12882975	54395835	4733148	46	5371											
SULF2	55959	broad.mit.edu	37	chr20	46301041	46301041	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcccgtagtacttgggcaCgaggttggagagggctctgc	6	9	16	10	2	1	1	0	0	1	1	1	3	1	1	1	4	3	5	1	4	2	4	rs140635355		TCGA-EJ-7783-01A-11D-2114-08	TCGA-EJ-7783-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9221a776-a241-48a2-b486-98902a8628f8	2ef588a2-879b-49c7-b880-227f72467804	g.chr20:46301041C>T	ENST00000359930.4	-	11	2328	c.1477G>A	c.(1477-1479)Gtg>Atg	p.V493M	SULF2_ENST00000467815.1_Missense_Mutation_p.V493M|SULF2_ENST00000361612.4_Missense_Mutation_p.V493M|SULF2_ENST00000484875.1_Missense_Mutation_p.V493M	NM_018837.3	NP_061325.1	Q8IWU5	SULF2_HUMAN	sulfatase 2	493					bone development (GO:0060348)|cartilage development (GO:0051216)|chondrocyte development (GO:0002063)|embryonic skeletal system development (GO:0048706)|esophagus smooth muscle contraction (GO:0014846)|glial cell-derived neurotrophic factor receptor signaling pathway (GO:0035860)|glomerular basement membrane development (GO:0032836)|glomerular filtration (GO:0003094)|heparan sulfate proteoglycan metabolic process (GO:0030201)|innervation (GO:0060384)|kidney development (GO:0001822)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|positive regulation of Wnt signaling pathway (GO:0030177)|positive regulation vascular endothelial growth factor production (GO:0010575)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	arylsulfatase activity (GO:0004065)|calcium ion binding (GO:0005509)|N-acetylglucosamine-6-sulfatase activity (GO:0008449)			breast(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	54						TACTTGGGCACGAGGTTGGAG	0.627													C|||	1	0.000199681	0	0	5008	,	,		15904	0.001		0	False		,,,				2504	0					ENST00000359930.4																			0				breast(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	54						c.(1477-1479)Gtg>Atg		sulfatase 2			MET/VAL,MET/VAL,MET/VAL	1,4405	2.1+/-5.4	0,1,2202	63	57	59		1477,1477,1477	4.5	1	20	dbSNP_134	59	2,8598	2.2+/-6.3	0,2,4298	yes	missense,missense,missense	SULF2	NM_001161841.1,NM_018837.3,NM_198596.2	21,21,21	0,3,6500	TT,TC,CC		0.0233,0.0227,0.0231	benign,benign,benign	493/871,493/871,493/868	46301041	3,13003	2203	4300	6503	SO:0001583	missense	55959				bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding	g.chr20:46301041C>T	AY101176	CCDS13408.1, CCDS13409.1, CCDS13409.2	20q13.12-q13.13	2008-05-14			ENSG00000196562	ENSG00000196562			20392	protein-coding gene	gene with protein product		610013				12368295	Standard	NM_018837		Approved	KIAA1247, HSULF-2, SULF-2	uc002xto.3	Q8IWU5	OTTHUMG00000032675	ENST00000359930.4:c.1477G>A	20.37:g.46301041C>T	ENSP00000353007:p.Val493Met					SULF2_ENST00000467815.1_Missense_Mutation_p.V493M|SULF2_ENST00000361612.4_Missense_Mutation_p.V493M|SULF2_ENST00000484875.1_Missense_Mutation_p.V493M	p.V493M	NM_018837.3	NP_061325.1	Q8IWU5	SULF2_HUMAN			11	2328	-			493					E1P5U6|Q5JYE1|Q6UX86|Q96SG2|Q9H1H0|Q9UJR3|Q9ULH3	Missense_Mutation	SNP	ENST00000359930.4	37	c.1477G>A	CCDS13408.1	2	9.157509157509158E-4	0	0.0	0	0.0	2	0.0034965034965034965	0	0.0	C	12.25	1.881683	0.33255	2.27E-4	2.33E-4	ENSG00000196562	ENST00000359930;ENST00000484875;ENST00000361612;ENST00000467815	D;D;D;D	0.99014	-5.33;-5.33;-5.33;-5.33	5.42	4.46	0.54185	Alkaline-phosphatase-like, core domain (1);	0.481359	0.23395	N	0.048644	D	0.93867	0.8038	N	0.03115	-0.41	0.23563	N	0.997408	B;B	0.20459	0.016;0.045	B;B	0.15870	0.009;0.014	D	0.86428	0.1759	10	0.34782	T	0.22	-9.0405	6.3516	0.21379	0.0:0.6835:0.1542:0.1623	.	493;493	Q8IWU5-2;Q8IWU5	.;SULF2_HUMAN	M	493	ENSP00000353007:V493M;ENSP00000418290:V493M;ENSP00000354662:V493M;ENSP00000418442:V493M	ENSP00000353007:V493M	V	-	1	0	SULF2	45734448	0.089000	0.21612	1.000000	0.80357	0.889000	0.51656	0.170000	0.16663	2.537000	0.85549	0.552000	0.68991	GTG		0.627	SULF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079606.1	NM_018837		28	80	0	0	0	0.769981	0	28	80					T	46301041	C	T	46301041	3	4	95	1	0	0	0	0	1	0	0	0	15370	536	19	1	1179	1	SULF2	20	46301041	Missense_Mutation	SNP	C	TCGA-EJ-7783-01A-11D-2114-08		46301041	16724479	47	5372											
SNAI1	6615	broad.mit.edu	37	chr20	48600754	48600754	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggccttcaactgcaaatactGcaacaaggaatacctcagcc	14	7	7	13	0	2	0	2	0	0	0	2	1	2	1	3	2	7	2	3	2	7	3			TCGA-EJ-7783-01A-11D-2114-08	TCGA-EJ-7783-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9221a776-a241-48a2-b486-98902a8628f8	2ef588a2-879b-49c7-b880-227f72467804	g.chr20:48600754G>T	ENST00000244050.2	+	2	537	c.476G>T	c.(475-477)tGc>tTc	p.C159F		NM_005985.3	NP_005976.2	O95863	SNAI1_HUMAN	snail family zinc finger 1	159	Required for nuclear localization and interaction with KPNB1, NOTCH1 and PARP1.				cartilage morphogenesis (GO:0060536)|cell migration (GO:0016477)|epithelial to mesenchymal transition (GO:0001837)|hair follicle morphogenesis (GO:0031069)|left/right pattern formation (GO:0060972)|mesoderm formation (GO:0001707)|negative regulation of cell differentiation involved in embryonic placenta development (GO:0060806)|negative regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043518)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902230)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of vitamin D biosynthetic process (GO:0010957)|Notch signaling involved in heart development (GO:0061314)|osteoblast differentiation (GO:0001649)|palate development (GO:0060021)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of tight junction assembly (GO:2000810)|trophoblast giant cell differentiation (GO:0060707)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	kinase binding (GO:0019900)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)	17			BRCA - Breast invasive adenocarcinoma(9;4.03e-06)			TGCAAATACTGCAACAAGGAA	0.602																																						ENST00000244050.2																			0				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)	17						c.(475-477)tGc>tTc		snail family zinc finger 1							40	41	41					20																	48600754		2203	4300	6503	SO:0001583	missense	6615				epithelial to mesenchymal transition|mesoderm formation|negative regulation of transcription from RNA polymerase II promoter|osteoblast differentiation|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent	cytoplasm|nucleus	kinase binding|zinc ion binding	g.chr20:48600754G>T	AF125377	CCDS13423.1	20q13.2	2013-05-23	2013-05-23		ENSG00000124216	ENSG00000124216		"Snail homologs", "Zinc fingers, C2H2-type"	11128	protein-coding gene	gene with protein product		604238	"snail 1 (drosophila homolog), zinc finger protein", "snail homolog 1 (Drosophila)"			10585766	Standard	NM_005985		Approved	SNA, SLUGH2, SNAH, SNAIL1, SNAIL	uc002xuz.3	O95863	OTTHUMG00000033048	ENST00000244050.2:c.476G>T	20.37:g.48600754G>T	ENSP00000244050:p.Cys159Phe						p.C159F	NM_005985.3	NP_005976.2	O95863	SNAI1_HUMAN	BRCA - Breast invasive adenocarcinoma(9;4.03e-06)		2	537	+			159					B2R842|Q9P113|Q9UBP7|Q9UHH7	Missense_Mutation	SNP	ENST00000244050.2	37	c.476G>T	CCDS13423.1	.	.	.	.	.	.	.	.	.	.	G	26.2	4.718233	0.89205	.	.	ENSG00000124216	ENST00000244050	D	0.99974	-10.2	4.58	4.58	0.56647	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	D	0.99975	0.9992	M	0.88979	2.995	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.95682	0.8733	10	0.87932	D	0	-34.5017	17.7592	0.88460	0.0:0.0:1.0:0.0	.	159	O95863	SNAI1_HUMAN	F	159	ENSP00000244050:C159F	ENSP00000244050:C159F	C	+	2	0	SNAI1	48034161	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.420000	0.97426	2.256000	0.74724	0.557000	0.71058	TGC		0.602	SNAI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080350.1			3	34	1	0	0.115264	0.115264	0.125375	3	34					T	48600754	G	T	48600754	3	4	95	1	0	0	0	0	1	0	0	0	14826	1319	46	5	482	5	SNAI1	20	48600754	Missense_Mutation	SNP	G	TCGA-EJ-7783-01A-11D-2114-08	2299713	48600754	14424766	48	5373											
CARD10	29775	broad.mit.edu	37	chr22	37888774	37888774	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggcagacaccagtagcggccGcaccaaactgtagggtctga	11	5	13	12	2	1	2	0	1	1	1	1	2	1	2	3	3	2	4	3	3	3	2			TCGA-EJ-7783-01A-11D-2114-08	TCGA-EJ-7783-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9221a776-a241-48a2-b486-98902a8628f8	2ef588a2-879b-49c7-b880-227f72467804	g.chr22:37888774G>A	ENST00000403299.1	-	18	2728	c.2512C>T	c.(2512-2514)Cgg>Tgg	p.R838W	CARD10_ENST00000406271.3_Missense_Mutation_p.R552W|CARD10_ENST00000251973.5_Missense_Mutation_p.R838W			Q9BWT7	CAR10_HUMAN	caspase recruitment domain family, member 10	838					activation of NF-kappaB-inducing kinase activity (GO:0007250)|protein complex assembly (GO:0006461)|regulation of apoptotic process (GO:0042981)	CBM complex (GO:0032449)|cytoplasm (GO:0005737)	receptor signaling complex scaffold activity (GO:0030159)	p.R838W(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	17	Melanoma(58;0.0574)					AGTAGCGGCCGCACCAAACTG	0.657																																						ENST00000403299.1																			1	Substitution - Missense(1)	p.R838W(1)	central_nervous_system(1)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	17						c.(2512-2514)Cgg>Tgg		caspase recruitment domain family, member 10							28	28	28					22																	37888774		2202	4300	6502	SO:0001583	missense	29775				activation of NF-kappaB-inducing kinase activity|protein complex assembly|regulation of apoptosis	CBM complex	receptor signaling complex scaffold activity	g.chr22:37888774G>A	AF086324	CCDS13948.1	22q13.1	2008-05-22			ENSG00000100065	ENSG00000100065			16422	protein-coding gene	gene with protein product		607209				11259443, 11356195	Standard	NM_014550		Approved	CARMA3, BIMP1	uc003asu.1	Q9BWT7	OTTHUMG00000150592	ENST00000403299.1:c.2512C>T	22.37:g.37888774G>A	ENSP00000384570:p.Arg838Trp					CARD10_ENST00000406271.3_Missense_Mutation_p.R552W|CARD10_ENST00000251973.5_Missense_Mutation_p.R838W	p.R838W			Q9BWT7	CAR10_HUMAN			18	2728	-	Melanoma(58;0.0574)		838					Q14CQ8|Q5TFG6|Q8NC81|Q9UGR5|Q9UGR6|Q9Y3H0	Missense_Mutation	SNP	ENST00000403299.1	37	c.2512C>T	CCDS13948.1	.	.	.	.	.	.	.	.	.	.	G	17.13	3.310674	0.60414	.	.	ENSG00000100065	ENST00000403299;ENST00000406271;ENST00000251973;ENST00000437756	T;T;T;T	0.44482	0.92;2.62;0.92;1.24	4.84	2.65	0.31530	.	0.263418	0.32884	N	0.005536	T	0.55784	0.1942	L	0.53249	1.67	0.31308	N	0.687487	D;D	0.89917	0.996;1.0	P;D	0.75020	0.727;0.985	T	0.61821	-0.6984	10	0.87932	D	0	-25.2973	11.2183	0.48840	0.0:0.0:0.6667:0.3333	.	838;552	Q9BWT7;Q8NC81	CAR10_HUMAN;.	W	838;552;838;479	ENSP00000384570:R838W;ENSP00000385799:R552W;ENSP00000251973:R838W;ENSP00000416239:R479W	ENSP00000251973:R838W	R	-	1	2	CARD10	36218720	0.997000	0.39634	1.000000	0.80357	0.376000	0.30014	2.646000	0.46630	0.588000	0.29660	-0.314000	0.08810	CGG		0.657	CARD10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318997.1	NM_014550		3	49	0	0	0	0.115264	0	3	49					A	37888774	G	A	37888774	3	1	95	1	0	0	0	0	1	0	0	0	2644	1086	38	1	602	1	CARD10	22	37888774	Missense_Mutation	SNP	G	TCGA-EJ-7783-01A-11D-2114-08		37888774	13415792	49	5374											
TCF20	6942	broad.mit.edu	37	chr22	42609619	42609619	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagtctggggggttcattctGagcaccttgtgccggtgagg	5	11	17	8	1	3	2	1	2	2	0	3	3	3	2	2	5	2	2	2	5	0	3			TCGA-EJ-7783-01A-11D-2114-08	TCGA-EJ-7783-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9221a776-a241-48a2-b486-98902a8628f8	2ef588a2-879b-49c7-b880-227f72467804	g.chr22:42609619G>T	ENST00000359486.3	-	1	1829	c.1693C>A	c.(1693-1695)Cag>Aag	p.Q565K	TCF20_ENST00000335626.4_Missense_Mutation_p.Q565K	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN	transcription factor 20 (AR1)	565					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						GGTTCATTCTGAGCACCTTGT	0.582																																						ENST00000359486.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						c.(1693-1695)Cag>Aag		transcription factor 20 (AR1)							61	57	58					22																	42609619		2203	4300	6503	SO:0001583	missense	6942				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding	g.chr22:42609619G>T	U19345	CCDS14032.1, CCDS14033.1	22q13.3	2011-02-08			ENSG00000100207	ENSG00000100207			11631	protein-coding gene	gene with protein product	"stromelysin-1 platelet-derived growth factor-responsive element binding protein"	603107				9730594, 10995766	Standard	NM_005650		Approved	AR1, SPBP	uc003bcj.1	Q9UGU0	OTTHUMG00000150920	ENST00000359486.3:c.1693C>A	22.37:g.42609619G>T	ENSP00000352463:p.Gln565Lys					TCF20_ENST00000335626.4_Missense_Mutation_p.Q565K	p.Q565K	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN			1	1829	-			565					A9JX12|O14528|Q13078|Q4V353|Q9H4M0	Missense_Mutation	SNP	ENST00000359486.3	37	c.1693C>A	CCDS14033.1	.	.	.	.	.	.	.	.	.	.	G	15.44	2.833943	0.50951	.	.	ENSG00000100207	ENST00000359486;ENST00000335626	T;T	0.61274	0.12;0.12	6.17	6.17	0.99709	.	0.172756	0.41500	D	0.000875	T	0.57359	0.2048	N	0.19112	0.55	0.80722	D	1	D;D	0.58268	0.982;0.969	D;D	0.70227	0.968;0.93	T	0.49153	-0.8969	10	0.06494	T	0.89	-12.6915	13.9957	0.64397	0.0685:0.0:0.9315:0.0	.	565;565	Q9UGU0-2;Q9UGU0	.;TCF20_HUMAN	K	565	ENSP00000352463:Q565K;ENSP00000335561:Q565K	ENSP00000335561:Q565K	Q	-	1	0	TCF20	40939563	1.000000	0.71417	1.000000	0.80357	0.844000	0.47949	5.765000	0.68834	2.941000	0.99782	0.655000	0.94253	CAG		0.582	TCF20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320531.1	NM_181492		4	66	1	0	0.150653	0.150653	0.161043	4	66					T	42609619	G	T	42609619	3	4	95	1	0	0	0	0	1	0	0	0	15687	1299	45	5	4227	5	TCF20	22	42609619	Missense_Mutation	SNP	G	TCGA-EJ-7783-01A-11D-2114-08	4720845	42609619	8694947	50	5375											
MMACHC	25974	broad.mit.edu	37	chr1	45974618	45974618	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctgaccgtatcgccctactcGaaggcttcaatttccactgg	8	11	8	14	3	1	1	1	1	0	0	4	2	2	1	3	2	1	2	3	2	4	4			TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	b330d9da-504a-4dfe-b696-ceebe0369ede	g.chr1:45974618G>A	ENST00000401061.4	+	4	860	c.580G>A	c.(580-582)Gaa>Aaa	p.E194K		NM_015506.2	NP_056321.2	Q9Y4U1	MMAC_HUMAN	methylmalonic aciduria (cobalamin deficiency) cblC type, with homocystinuria	194					cobalamin biosynthetic process (GO:0009236)|cobalamin metabolic process (GO:0009235)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	cobalamin binding (GO:0031419)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	8	Acute lymphoblastic leukemia(166;0.155)				Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	CGCCCTACTCGAAGGCTTCAA	0.562																																						ENST00000401061.4																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	8						c.(580-582)Gaa>Aaa		methylmalonic aciduria (cobalamin deficiency) cblC type, with homocystinuria	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)						113	121	118					1																	45974618		2058	4192	6250	SO:0001583	missense	25974						cobalamin binding	g.chr1:45974618G>A		CCDS41324.1	1p34.1	2011-05-12			ENSG00000132763	ENSG00000132763			24525	protein-coding gene	gene with protein product		609831				16311595	Standard	NM_015506		Approved	DKFZP564I122, cblC	uc009vxv.3	Q9Y4U1	OTTHUMG00000007742	ENST00000401061.4:c.580G>A	1.37:g.45974618G>A	ENSP00000383840:p.Glu194Lys						p.E194K	NM_015506.2	NP_056321.2	Q9Y4U1	MMAC_HUMAN			4	860	+	Acute lymphoblastic leukemia(166;0.155)		194					Q5T157|Q9BRQ7	Missense_Mutation	SNP	ENST00000401061.4	37	c.580G>A	CCDS41324.1	.	.	.	.	.	.	.	.	.	.	G	34	5.293323	0.95546	.	.	ENSG00000132763	ENST00000401061	D	0.98135	-4.74	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	D	0.98406	0.9470	M	0.80616	2.505	0.80722	D	1	D	0.76494	0.999	P	0.56960	0.81	D	0.98942	1.0791	10	0.62326	D	0.03	-14.1818	19.4484	0.94857	0.0:0.0:1.0:0.0	.	194	Q9Y4U1	MMAC_HUMAN	K	194	ENSP00000383840:E194K	ENSP00000383840:E194K	E	+	1	0	MMACHC	45747205	1.000000	0.71417	1.000000	0.80357	0.725000	0.41563	9.400000	0.97290	2.711000	0.92665	0.563000	0.77884	GAA		0.562	MMACHC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000020864.2	NM_015506		11	138	0	0	0	0.411799	0	11	138					A	45974618	G	A	45974618	3	1	96	1	0	0	0	0	1	0	0	0	9641	1059	37	2	594	2	MMACHC	1	45974618	Missense_Mutation	SNP	G	TCGA-EJ-7784-01A-11D-2114-08		45974618	203276003	1	5376											
EFCAB7	84455	broad.mit.edu	37	chr1	64022884	64022884	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gaattgagaacaagtggtgaGaaatgtgatgaagatgcttg	15	10	14	2	0	0	5	0	4	0	3	0	8	0	5	0	1	2	1	0	1	5	2			TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	b330d9da-504a-4dfe-b696-ceebe0369ede	g.chr1:64022884G>A	ENST00000371088.4	+	10	1560	c.1314G>A	c.(1312-1314)gaG>gaA	p.E438E	EFCAB7_ENST00000461039.1_3'UTR	NM_032437.2	NP_115813.2	A8K855	EFCB7_HUMAN	EF-hand calcium binding domain 7	438	EF-hand 3. {ECO:0000255|PROSITE- ProRule:PRU00448}.						calcium ion binding (GO:0005509)			breast(1)|endometrium(4)|large_intestine(4)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	19						CAAGTGGTGAGAAATGTGATG	0.318																																						ENST00000371088.4																			0				breast(1)|endometrium(4)|large_intestine(4)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	19						c.(1312-1314)gaG>gaA		EF-hand calcium binding domain 7							73	83	80					1																	64022884		2203	4300	6503	SO:0001819	synonymous_variant	84455						calcium ion binding	g.chr1:64022884G>A	BC015814	CCDS30737.1	1p31.3	2013-01-10			ENSG00000203965	ENSG00000203965		"EF-hand domain containing"	29379	protein-coding gene	gene with protein product						11347906	Standard	NM_032437		Approved	KIAA1799, RP4-534K7.1	uc001dbf.3	A8K855	OTTHUMG00000008983	ENST00000371088.4:c.1314G>A	1.37:g.64022884G>A						EFCAB7_ENST00000461039.1_3'UTR	p.E438E	NM_032437.2	NP_115813.2	A8K855	EFCB7_HUMAN			10	1560	+			438			EF-hand 3.		Q658P0|Q96B95|Q96JM6	Silent	SNP	ENST00000371088.4	37	c.1314G>A	CCDS30737.1																																																																																				0.318	EFCAB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024910.1	NM_032437		3	37	0	0	0	0.150653	0	3	37					A	64022884	G	A	64022884	2	1	96	1	0	0	0	0	0	0	0	1	4940	933	33	3		3	EFCAB7	1	64022884	Silent	SNP	G	TCGA-EJ-7784-01A-11D-2114-08	18048266	64022884	185227737	2	5377											
DNASE2B	58511	broad.mit.edu	37	chr1	84880355	84880356	+	Frame_Shift_Ins	INS	-	-	T																															attaaattatcacgacactcINSttatttcagttcttatcaag																										TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	b330d9da-504a-4dfe-b696-ceebe0369ede	g.chr1:84880355_84880356insT	ENST00000370665.3	+	6	923_924	c.890_891insT	c.(889-894)tcttatfs	p.Y298fs	DNASE2B_ENST00000370662.3_Frame_Shift_Ins_p.Y90fs	NM_021233.2	NP_067056.2	Q8WZ79	DNS2B_HUMAN	deoxyribonuclease II beta	298					apoptotic DNA fragmentation (GO:0006309)	extracellular region (GO:0005576)|intracellular (GO:0005622)|lysosome (GO:0005764)	deoxyribonuclease II activity (GO:0004531)			endometrium(1)|lung(4)|skin(1)	6				all cancers(265;0.00303)|Epithelial(280;0.0112)|OV - Ovarian serous cystadenocarcinoma(397;0.0808)		TCACGACACTCTTATTTCAGTT	0.406																																					Pancreas(54;788 1175 11852 16034 30034)	ENST00000370665.3																			0				endometrium(1)|lung(4)|skin(1)	6						c.(889-891)ttafs		deoxyribonuclease II beta																																				SO:0001589	frameshift_variant	58511				DNA metabolic process	lysosome	deoxyribonuclease II activity	g.chr1:84880355_84880356insT	AF274571	CCDS694.1, CCDS44167.1	1p22.3	2008-02-05			ENSG00000137976	ENSG00000137976			28875	protein-coding gene	gene with protein product		608057				12594037, 11376952	Standard	NM_021233		Approved	DLAD	uc001djt.1	Q8WZ79	OTTHUMG00000009860	ENST00000370665.3:c.892dupT	1.37:g.84880357_84880357dupT	ENSP00000359699:p.Tyr298fs					DNASE2B_ENST00000370662.3_Frame_Shift_Ins_p.L89fs	p.L297fs	NM_021233.2	NP_067056.2	Q8WZ79	DNS2B_HUMAN		all cancers(265;0.00303)|Epithelial(280;0.0112)|OV - Ovarian serous cystadenocarcinoma(397;0.0808)	6	923_924	+			297					Q5VXD0|Q5VXD1|Q8WZ80|Q9NQW3	Frame_Shift_Ins	INS	ENST00000370665.3	37	c.890_891insT	CCDS44167.1																																																																																				0.406	DNASE2B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000027248.1	NM_021233		18	54						18	54	---	---	---	---	T	84880356	-	T	84880355	7	5	96	1	0	1	1	0	0	0	0	0	4665	913	32	0	912	0	DNASE2B	1	84880355	Frame_Shift_Ins	INS	-	TCGA-EJ-7784-01A-11D-2114-08	20857471	84880355	164370266	3	5378											
KPRP	448834	broad.mit.edu	37	chr1	152733398	152733398	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agcactacgtccaacaccgcGgccagttccccttcctcgcc	7	7	7	20	4	0	0	0	0	0	0	4	0	3	0	7	1	3	2	7	1	2	3			TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	b330d9da-504a-4dfe-b696-ceebe0369ede	g.chr1:152733398G>A	ENST00000606109.1	+	1	1362	c.1334G>A	c.(1333-1335)cGg>cAg	p.R445Q	KPRP_ENST00000368773.1_Missense_Mutation_p.R445Q			Q5T749	KPRP_HUMAN	keratinocyte proline-rich protein	445	Pro-rich.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)				NS(1)|breast(1)|endometrium(9)|kidney(1)|large_intestine(10)|lung(21)|ovary(6)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCAACACCGCGGCCAGTTCCC	0.582																																						ENST00000368773.1																			0				NS(1)|breast(1)|endometrium(9)|kidney(1)|large_intestine(10)|lung(21)|ovary(6)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						c.(1333-1335)cGg>cAg		keratinocyte proline-rich protein							169	170	170					1																	152733398		2203	4300	6503	SO:0001583	missense	448834					cytoplasm		g.chr1:152733398G>A	AY960854	CCDS30862.1	1q21.3	2008-02-05	2007-02-02	2006-12-07	ENSG00000203786	ENSG00000203786			31823	protein-coding gene	gene with protein product		613260	"chromosome 1 open reading frame 45"	C1orf45		16297201	Standard	NM_001025231		Approved		uc001fal.1	Q5T749	OTTHUMG00000012402	ENST00000606109.1:c.1334G>A	1.37:g.152733398G>A	ENSP00000475216:p.Arg445Gln					KPRP_ENST00000606109.1_Missense_Mutation_p.R445Q	p.R445Q	NM_001025231.1	NP_001020402.1	Q5T749	KPRP_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	1392	+	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		445			Pro-rich.			Missense_Mutation	SNP	ENST00000606109.1	37	c.1334G>A	CCDS30862.1	.	.	.	.	.	.	.	.	.	.	G	7.238	0.600698	0.13939	.	.	ENSG00000203786	ENST00000368773	T	0.15256	2.44	1.66	1.66	0.24008	.	0.339830	0.21778	N	0.069258	T	0.02888	0.0086	L	0.38175	1.15	0.09310	N	1	P	0.39250	0.665	B	0.23419	0.046	T	0.41734	-0.9492	10	0.16896	T	0.51	-4.7283	9.3095	0.37895	0.0:0.0:1.0:0.0	.	445	Q5T749	KPRP_HUMAN	Q	445	ENSP00000357762:R445Q	ENSP00000357762:R445Q	R	+	2	0	KPRP	151000022	0.118000	0.22208	0.026000	0.17262	0.034000	0.12701	1.691000	0.37721	1.244000	0.43870	0.462000	0.41574	CGG		0.582	KPRP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034522.2	NM_001025231		78	157	0	0	0	0.870114	0	78	157					A	152733398	G	A	152733398	3	1	96	1	0	0	0	0	1	0	0	0	8436	1116	39	2	1336	2	KPRP	1	152733398	Missense_Mutation	SNP	G	TCGA-EJ-7784-01A-11D-2114-08	67853043	152733398	96517223	4	5379											
DENND4B	9909	broad.mit.edu	37	chr1	153907309	153907309	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgctgctgctgctgctgttgCtgctgctgctgctgttgccg	0	15	14	12	1	0	0	0	0	0	0	0	0	0	0	1	0	11	12	1	0	0	2			TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	b330d9da-504a-4dfe-b696-ceebe0369ede	g.chr1:153907309C>T	ENST00000361217.4	-	18	3118	c.2700G>A	c.(2698-2700)caG>caA	p.Q900Q	DENND4B_ENST00000474386.1_5'Flank	NM_014856.2	NP_055671.2	O75064	DEN4B_HUMAN	DENN/MADD domain containing 4B	900	Gln-rich.				positive regulation of Rab GTPase activity (GO:0032851)|regulation of Rab protein signal transduction (GO:0032483)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)	p.Q788Q(1)|p.Q900Q(1)		NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	36	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			gctgctgttgctgctgctgct	0.642																																						ENST00000361217.4																			2	Substitution - coding silent(2)	p.Q788Q(1)|p.Q900Q(1)	lung(2)	NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	36						c.(2698-2700)caG>caA		DENN/MADD domain containing 4B							33	42	39					1																	153907309		2187	4283	6470	SO:0001819	synonymous_variant	9909							g.chr1:153907309C>T	AB007945	CCDS44228.1	1q21.3	2012-10-03	2006-01-27	2006-01-27	ENSG00000198837	ENSG00000198837		"DENN/MADD domain containing"	29044	protein-coding gene	gene with protein product			"KIAA0476"	KIAA0476		9455484, 12906859	Standard	NM_014856		Approved		uc001fdd.1	O75064	OTTHUMG00000037157	ENST00000361217.4:c.2700G>A	1.37:g.153907309C>T							p.Q900Q	NM_014856.2	NP_055671.2	O75064	DEN4B_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.151)		18	3118	-	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		900			Gln-rich.		Q5T4K0	Silent	SNP	ENST00000361217.4	37	c.2700G>A	CCDS44228.1																																																																																				0.642	DENND4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090278.2	XM_375806		4	75	0	0	0	0.217242	0	4	75					T	153907309	C	T	153907309	2	4	96	1	0	0	0	0	0	0	0	1	4434	796	28	3		3	DENND4B	1	153907309	Silent	SNP	C	TCGA-EJ-7784-01A-11D-2114-08	1173911	153907309	95343312	5	5380											
OR10K1	391109	broad.mit.edu	37	chr1	158436009	158436009	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttatcctagtctcctacatcCgcatcatctctgccattcta	8	15	3	15	1	4	0	1	0	3	0	8	0	6	0	4	0	2	1	4	0	4	5	rs185874732		TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	b330d9da-504a-4dfe-b696-ceebe0369ede	g.chr1:158436009C>T	ENST00000289451.2	+	1	738	c.658C>T	c.(658-660)Cgc>Tgc	p.R220C		NM_001004473.1	NP_001004473.1	Q8NGX5	O10K1_HUMAN	olfactory receptor, family 10, subfamily K, member 1	220						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	27	all_hematologic(112;0.0378)					CTCCTACATCCGCATCATCTC	0.478													C|||	1	0.000199681	0	0.0014	5008	,	,		22474	0		0	False		,,,				2504	0					ENST00000289451.2																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	27						c.(658-660)Cgc>Tgc		olfactory receptor, family 10, subfamily K, member 1		C	CYS/ARG	0,4406		0,0,2203	127	118	121		658	4.2	0	1		121	1,8599	1.2+/-3.3	0,1,4299	no	missense	OR10K1	NM_001004473.1	180	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	220/314	158436009	1,13005	2203	4300	6503	SO:0001583	missense	391109				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158436009C>T	AP002532	CCDS30897.1	1q23.1	2012-08-09			ENSG00000173285	ENSG00000173285		"GPCR / Class A : Olfactory receptors"	14693	protein-coding gene	gene with protein product							Standard	NM_001004473		Approved		uc010pij.2	Q8NGX5	OTTHUMG00000017517	ENST00000289451.2:c.658C>T	1.37:g.158436009C>T	ENSP00000289451:p.Arg220Cys						p.R220C	NM_001004473.1	NP_001004473.1	Q8NGX5	O10K1_HUMAN			1	738	+	all_hematologic(112;0.0378)		220					Q6IFS2	Missense_Mutation	SNP	ENST00000289451.2	37	c.658C>T	CCDS30897.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	c	1.332	-0.596619	0.03771	0.0	1.16E-4	ENSG00000173285	ENST00000289451	T	0.00099	8.73	4.24	4.24	0.50183	GPCR, rhodopsin-like superfamily (1);	0.990047	0.08200	N	0.982456	T	0.00039	0.0001	N	0.04636	-0.2	0.09310	N	1	B	0.12630	0.006	B	0.06405	0.002	T	0.13953	-1.0490	10	0.35671	T	0.21	.	9.3686	0.38239	0.0:0.8989:0.0:0.1011	.	220	Q8NGX5	O10K1_HUMAN	C	220	ENSP00000289451:R220C	ENSP00000289451:R220C	R	+	1	0	OR10K1	156702633	0.000000	0.05858	0.021000	0.16686	0.131000	0.20780	-1.500000	0.02283	2.160000	0.67779	0.557000	0.71058	CGC		0.478	OR10K1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046367.1			21	82	0	0	0	0.639603	0	21	82					T	158436009	C	T	158436009	3	4	96	1	0	0	0	0	1	0	0	0	10913	652	23	2	660	2	OR10K1	1	158436009	Missense_Mutation	SNP	C	TCGA-EJ-7784-01A-11D-2114-08	4528700	158436009	90814612	6	5381											
PRG4	10216	broad.mit.edu	37	chr1	186276370	186276370	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccaccactcccaaggagcctGcacccaccaccaccaaggag	12	2	7	20	0	0	0	0	0	0	0	1	2	1	2	8	2	2	1	8	2	2	0			TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	b330d9da-504a-4dfe-b696-ceebe0369ede	g.chr1:186276370G>A	ENST00000445192.2	+	7	1564	c.1519G>A	c.(1519-1521)Gca>Aca	p.A507T	PRG4_ENST00000367485.4_Missense_Mutation_p.A414T|PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367486.3_Missense_Mutation_p.A464T|PRG4_ENST00000367483.4_Missense_Mutation_p.A466T	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	507	59 X 8 AA repeats of K-X-P-X-P-T-T-X.				cell proliferation (GO:0008283)|hematopoietic stem cell proliferation (GO:0071425)|immune response (GO:0006955)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|regulation of cell proliferation (GO:0042127)	extracellular space (GO:0005615)	polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						CAAGGAGCCTGCACCCACCAC	0.652																																						ENST00000445192.2																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						c.(1519-1521)Gca>Aca		proteoglycan 4							115	113	114					1																	186276370		2203	4298	6501	SO:0001583	missense	10216				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity	g.chr1:186276370G>A	U70136	CCDS1369.1, CCDS44287.1, CCDS44288.1	1q25-q31	2008-07-18	2004-11-15		ENSG00000116690	ENSG00000116690			9364	protein-coding gene	gene with protein product	"lubricin", "megakaryocyte stimulating factor", "articular superficial zone protein", "Jacobs camptodactyly-arthropathy-pericarditis syndrome", "camptodactyly, arthropathy, coxa vara, pericarditis syndrome", "bG174L6.2 (MSF: megakaryocyte stimulating factor )"	604283	"proteoglycan 4, (megakaryocyte stimulating factor, articular superficial zone protein, camptodactyly, arthropathy, coxa vara, pericarditis syndrome)"	CACP		10545950, 9920774	Standard	NM_005807		Approved	JCAP, SZP, MSF, HAPO, bG174L6.2, FLJ32635	uc001gru.4	Q92954	OTTHUMG00000035574	ENST00000445192.2:c.1519G>A	1.37:g.186276370G>A	ENSP00000399679:p.Ala507Thr					PRG4_ENST00000367486.3_Missense_Mutation_p.A464T|PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367483.4_Missense_Mutation_p.A466T|PRG4_ENST00000367485.4_Missense_Mutation_p.A414T	p.A507T	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN			7	1564	+			507			59 X 8 AA repeats of K-X-P-X-P-T-T-X.		Q6DNC4|Q6DNC5|Q6ZMZ5|Q9BX49	Missense_Mutation	SNP	ENST00000445192.2	37	c.1519G>A	CCDS1369.1	.	.	.	.	.	.	.	.	.	.	g	7.089	0.571822	0.13623	.	.	ENSG00000116690	ENST00000367486;ENST00000367482;ENST00000367483;ENST00000367485;ENST00000445192	T;T;T;T	0.07444	3.21;3.34;3.19;3.35	3.3	-2.18	0.07037	.	.	.	.	.	T	0.03263	0.0095	N	0.12182	0.205	0.22066	N	0.999381	B;B;B;B	0.06786	0.001;0.001;0.0;0.001	B;B;B;B	0.04013	0.001;0.001;0.001;0.001	T	0.45659	-0.9246	8	.	.	.	.	1.2927	0.02063	0.4774:0.1585:0.2038:0.1603	.	373;414;507;466	Q92954-4;Q92954-3;Q92954;Q92954-2	.;.;PRG4_HUMAN;.	T	464;373;466;414;507	ENSP00000356456:A464T;ENSP00000356453:A466T;ENSP00000356455:A414T;ENSP00000399679:A507T	.	A	+	1	0	PRG4	184542993	0.104000	0.21937	0.000000	0.03702	0.007000	0.05969	0.000000	0.12993	-0.344000	0.08338	-0.738000	0.03535	GCA		0.652	PRG4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000086346.1	NM_005807		4	124	0	0	0	0.150653	0	4	124					A	186276370	G	A	186276370	3	1	96	1	0	0	0	0	1	0	0	0	12481	1319	46	3	1541	3	PRG4	1	186276370	Missense_Mutation	SNP	G	TCGA-EJ-7784-01A-11D-2114-08	27840361	186276370	62974251	7	5382											
MIA3	375056	broad.mit.edu	37	chr1	222835673	222835673	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cagggtactcgatgaaggcaAggtaaatgcacccattttga	13	9	11	8	1	0	2	0	2	0	0	1	3	0	2	1	3	2	4	1	3	5	4			TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	b330d9da-504a-4dfe-b696-ceebe0369ede	g.chr1:222835673A>G	ENST00000344922.5	+	26	5286	c.5261A>G	c.(5260-5262)aAg>aGg	p.K1754R	RP11-378J18.8_ENST00000608771.1_RNA|MIA3_ENST00000340535.7_Splice_Site_p.K632R|MIA3_ENST00000344441.6_Splice_Site_p.K1754R|MIA3_ENST00000344507.1_Intron	NM_198551.2	NP_940953.2	Q5JRA6	MIA3_HUMAN	melanoma inhibitory activity family, member 3	1754	Pro-rich.			K -> R (in Ref. 2; BAH12416). {ECO:0000305}.	chondrocyte development (GO:0002063)|collagen fibril organization (GO:0030199)|exocytosis (GO:0006887)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell migration (GO:0030336)|positive regulation of bone mineralization (GO:0030501)|positive regulation of leukocyte migration (GO:0002687)|protein transport (GO:0015031)|wound healing (GO:0042060)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(5)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(15)|lung(37)|ovary(5)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|urinary_tract(1)	80				GBM - Glioblastoma multiforme(131;0.0199)		GATGAAGGCAAGGTAAATGCA	0.428																																						ENST00000344922.5																			0				breast(5)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(15)|lung(37)|ovary(5)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|urinary_tract(1)	80						c.e26+1		melanoma inhibitory activity family, member 3							148	143	145					1																	222835673		1894	4112	6006	SO:0001630	splice_region_variant	375056				exocytosis|negative regulation of cell adhesion|negative regulation of cell migration|positive regulation of leukocyte migration|protein transport|wound healing	endoplasmic reticulum membrane|integral to membrane	protein binding	g.chr1:222835673A>G		CCDS41470.1, CCDS73035.1	1p36.33	2012-12-13		2006-07-25	ENSG00000154305	ENSG00000154305			24008	protein-coding gene	gene with protein product	"C219 reactive peptide", "transport and golgi organization"	613455				15183315	Standard	XM_005273121		Approved	UNQ6077, FLJ39207, KIAA0268, TANGO	uc001hnl.3	Q5JRA6	OTTHUMG00000037543	ENST00000344922.5:c.5262+1A>G	1.37:g.222835673A>G						MIA3_ENST00000344441.6_Splice_Site_p.K1754_splice|MIA3_ENST00000344507.1_Intron|MIA3_ENST00000340535.7_Splice_Site_p.K632_splice	p.K1754_splice	NM_198551.2	NP_940953.2	Q5JRA6	MIA3_HUMAN		GBM - Glioblastoma multiforme(131;0.0199)	26	5286	+			1754	K -> R (in Ref. 2; BAH12416).		Pro-rich.		A8K2S0|A8MT05|A8MT13|B7Z430|Q14083|Q3S4X3|Q5JRA5|Q5JRB0|Q5JRB1|Q5JRB2|Q6UVY8|Q86Y60|Q8N8M5|Q92580	Splice_Site	SNP	ENST00000344922.5	37	c.5262_splice	CCDS41470.1	.	.	.	.	.	.	.	.	.	.	A	13.13	2.143907	0.37825	.	.	ENSG00000154305	ENST00000344922;ENST00000344441;ENST00000320831;ENST00000340535;ENST00000284471	T;T;T	0.40225	1.04;1.04;1.42	5.59	3.12	0.35913	.	.	.	.	.	T	0.24736	0.0600	L	0.36672	1.1	0.28416	N	0.917948	B;B	0.27997	0.197;0.071	B;B	0.27887	0.084;0.039	T	0.21586	-1.0241	9	0.09084	T	0.74	.	1.9501	0.03364	0.5511:0.1376:0.0816:0.2297	.	632;1754	Q5JRA6-4;Q5JRA6	.;MIA3_HUMAN	R	1754;1754;1695;632;632	ENSP00000340900:K1754R;ENSP00000340587:K1754R;ENSP00000345866:K632R	ENSP00000284471:K632R	K	+	2	0	MIA3	220902296	1.000000	0.71417	1.000000	0.80357	0.144000	0.21451	2.963000	0.49184	1.046000	0.40249	-0.280000	0.10049	AAG		0.428	MIA3-001	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000091489.4	NM_198551	Missense_Mutation	4	236	0	0	0	0.184627	0	4	236					G	222835673	A	G	222835673	5	3	96	1	0	0	0	0	0	0	1	0	9565	86	3	4	5363	4	MIA3	1	222835673	Splice_Site	SNP	A	TCGA-EJ-7784-01A-11D-2114-08	36559303	222835673	26414948	8	5383											
DISP1	84976	broad.mit.edu	37	chr1	223163994	223163994	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gccctgatagccgactggccGgtggtggtcttgggcatgtg	4	10	17	10	2	1	1	0	1	1	0	1	2	1	1	3	5	1	1	3	5	1	2			TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	b330d9da-504a-4dfe-b696-ceebe0369ede	g.chr1:223163994G>A	ENST00000284476.6	+	4	731	c.567G>A	c.(565-567)ccG>ccA	p.P189P	DISP1_ENST00000495684.1_3'UTR	NM_032890.3	NP_116279.2	Q96F81	DISP1_HUMAN	dispatched homolog 1 (Drosophila)	189					determination of left/right symmetry (GO:0007368)|diaphragm development (GO:0060539)|dorsal/ventral pattern formation (GO:0009953)|embryonic pattern specification (GO:0009880)|patched ligand maturation (GO:0007225)|peptide transport (GO:0015833)|protein homotrimerization (GO:0070207)|regulation of protein secretion (GO:0050708)|smoothened signaling pathway (GO:0007224)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)	hedgehog receptor activity (GO:0008158)|peptide transporter activity (GO:0015197)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(20)|lung(25)|prostate(4)|skin(1)|stomach(1)|urinary_tract(5)	69				GBM - Glioblastoma multiforme(131;0.102)		CCGACTGGCCGGTGGTGGTCT	0.493																																						ENST00000284476.6																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(20)|lung(25)|prostate(4)|skin(1)|stomach(1)|urinary_tract(5)	69						c.(565-567)ccG>ccA		dispatched homolog 1 (Drosophila)							247	219	229					1																	223163994		2203	4300	6503	SO:0001819	synonymous_variant	84976				diaphragm development|protein homotrimerization|regulation of protein secretion|smoothened signaling pathway	basolateral plasma membrane|integral to membrane	hedgehog receptor activity|peptide transporter activity	g.chr1:223163994G>A	AK056569	CCDS1536.1	1q42.12	2008-02-05			ENSG00000154309	ENSG00000154309			19711	protein-coding gene	gene with protein product		607502				10619433	Standard	NM_032890		Approved	DISPA, MGC13130, DKFZP434I0428, MGC16796	uc001hnu.2	Q96F81	OTTHUMG00000037893	ENST00000284476.6:c.567G>A	1.37:g.223163994G>A						DISP1_ENST00000495684.1_3'UTR	p.P189P	NM_032890.3	NP_116279.2	Q96F81	DISP1_HUMAN		GBM - Glioblastoma multiforme(131;0.102)	4	731	+			189					Q8N7C2|Q96I92|Q9H698|Q9H8H9|Q9UFA2	Silent	SNP	ENST00000284476.6	37	c.567G>A	CCDS1536.1																																																																																				0.493	DISP1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092512.1	NM_032890		4	188	0	0	0	0.184627	0	4	188					A	223163994	G	A	223163994	2	1	96	1	0	0	0	0	0	0	0	1	4539	1103	39	2		2	DISP1	1	223163994	Silent	SNP	G	TCGA-EJ-7784-01A-11D-2114-08	328321	223163994	26086627	9	5384											
RYR2	6262	broad.mit.edu	37	chr1	237754210	237754210	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atctagtgcccgatcgtgttGacaaagacaaagaagctact	14	9	9	9	2	1	3	0	1	1	2	2	4	1	3	1	0	3	2	1	0	5	3			TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	b330d9da-504a-4dfe-b696-ceebe0369ede	g.chr1:237754210G>T	ENST00000366574.2	+	31	4395	c.4078G>T	c.(4078-4080)Gac>Tac	p.D1360Y	RYR2_ENST00000542537.1_Missense_Mutation_p.D1344Y|RYR2_ENST00000360064.6_Missense_Mutation_p.D1358Y	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1360	4 X approximate repeats.|B30.2/SPRY 3. {ECO:0000255|PROSITE- ProRule:PRU00548}.				BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			CGATCGTGTTGACAAAGACAA	0.423																																						ENST00000366574.2																			0				NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586						c.(4078-4080)Gac>Tac		ryanodine receptor 2 (cardiac)							69	65	66					1																	237754210		1899	4118	6017	SO:0001583	missense	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237754210G>T	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"Ion channels / Ryanodine receptors", "EF-hand domain containing"	10484	protein-coding gene	gene with protein product		180902	"arrhythmogenic right ventricular dysplasia 2"	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.4078G>T	1.37:g.237754210G>T	ENSP00000355533:p.Asp1360Tyr					RYR2_ENST00000542537.1_Missense_Mutation_p.D1344Y|RYR2_ENST00000360064.6_Missense_Mutation_p.D1358Y	p.D1360Y	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		31	4395	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	1360			4 X approximate repeats.|B30.2/SPRY 3.		Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	c.4078G>T	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	g	18.15	3.560001	0.65538	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	D;D;D	0.96685	-4.09;-4.06;-4.08	5.25	5.25	0.73442	B30.2/SPRY domain (1);	0.252645	0.30999	N	0.008451	D	0.92941	0.7754	N	0.19112	0.55	0.80722	D	1	B	0.10296	0.003	B	0.11329	0.006	D	0.88326	0.2965	10	0.72032	D	0.01	.	19.4101	0.94667	0.0:0.0:1.0:0.0	.	1360	Q92736	RYR2_HUMAN	Y	1360;1358;1344	ENSP00000355533:D1360Y;ENSP00000353174:D1358Y;ENSP00000443798:D1344Y	ENSP00000353174:D1358Y	D	+	1	0	RYR2	235820833	1.000000	0.71417	0.948000	0.38648	0.993000	0.82548	9.166000	0.94766	2.895000	0.99335	0.650000	0.86243	GAC		0.423	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		18	41	1	0	2.35188e-11	0.539581	2.72818e-11	18	41					T	237754210	G	T	237754210	3	4	96	1	0	0	0	0	1	0	0	0	13769	1290	45	5	4200	5	RYR2	1	237754210	Missense_Mutation	SNP	G	TCGA-EJ-7784-01A-11D-2114-08	14590216	237754210	11496411	10	5385											
OR2T12	127064	broad.mit.edu	37	chr1	248458842	248458842	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctggtgtggttaaagagtccTaggagaataaaatctggggt	12	11	14	4	0	1	2	0	0	1	2	2	3	2	2	1	5	0	1	1	5	6	3			TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	53036395-5404-42c1-8e8b-8991d627f33f	g.chr1:248458842T>C	ENST00000317996.1	-	1	38	c.39A>G	c.(37-39)ctA>ctG	p.L13L		NM_001004692.1	NP_001004692.1	Q8NG77	O2T12_HUMAN	olfactory receptor, family 2, subfamily T, member 12	13						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L13L(1)		endometrium(4)|kidney(3)|large_intestine(3)|lung(25)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	43	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0201)			TAAAGAGTCCTAGGAGAATAA	0.448																																						ENST00000317996.1																			1	Substitution - coding silent(1)	p.L13L(1)	lung(1)	endometrium(4)|kidney(3)|large_intestine(3)|lung(25)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	43						c.(37-39)ctA>ctG		olfactory receptor, family 2, subfamily T, member 12							77	78	78					1																	248458842		2203	4298	6501	SO:0001819	synonymous_variant	127064				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248458842T>C	BK004485	CCDS31110.1	1q44	2012-08-09			ENSG00000177201	ENSG00000177201		"GPCR / Class A : Olfactory receptors"	19592	protein-coding gene	gene with protein product							Standard	NM_001004692		Approved		uc010pzj.2	Q8NG77	OTTHUMG00000040457	ENST00000317996.1:c.39A>G	1.37:g.248458842T>C							p.L13L	NM_001004692.1	NP_001004692.1	Q8NG77	O2T12_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0201)		1	38	-	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		13						Silent	SNP	ENST00000317996.1	37	c.39A>G	CCDS31110.1																																																																																				0.448	OR2T12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097353.1	NM_001004692		5	190	0	0	0	0.248553	0	5	190					C	248458842	T	C	248458842	2	2	96	1	0	0	0	0	0	0	0	1	11019	1509	53	4		4	OR2T12	1	248458842	Silent	SNP	T	TCGA-EJ-7784-01A-11D-2114-08	10704632	248458842	791779	11	5386											
SOX11	6664	broad.mit.edu	37	chr2	5833182	5833182	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcggctgcggctcaagcacaTggccgactaccccgactaca	9	5	11	16	4	1	0	1	0	0	0	1	2	1	0	3	3	4	3	3	3	3	2			TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	b330d9da-504a-4dfe-b696-ceebe0369ede	g.chr2:5833182T>A	ENST00000322002.3	+	1	384	c.329T>A	c.(328-330)aTg>aAg	p.M110K	AC107057.2_ENST00000458264.1_RNA|AC108025.2_ENST00000453678.1_RNA|AC108025.2_ENST00000420221.1_RNA	NM_003108.3	NP_003099.1	P35716	SOX11_HUMAN	SRY (sex determining region Y)-box 11	110					cardiac ventricle formation (GO:0003211)|closure of optic fissure (GO:0061386)|cornea development in camera-type eye (GO:0061303)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic skeletal system morphogenesis (GO:0048704)|eyelid development in camera-type eye (GO:0061029)|glial cell development (GO:0021782)|glial cell proliferation (GO:0014009)|hard palate development (GO:0060022)|kidney development (GO:0001822)|lens morphogenesis in camera-type eye (GO:0002089)|limb bud formation (GO:0060174)|lung morphogenesis (GO:0060425)|negative regulation of cell death (GO:0060548)|negative regulation of gene expression (GO:0010629)|negative regulation of glial cell proliferation (GO:0060253)|negative regulation of lymphocyte proliferation (GO:0050672)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|neural crest cell development (GO:0014032)|neural tube formation (GO:0001841)|neuroepithelial cell differentiation (GO:0060563)|neuron differentiation (GO:0030182)|noradrenergic neuron differentiation (GO:0003357)|oligodendrocyte development (GO:0014003)|outflow tract morphogenesis (GO:0003151)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of hippo signaling (GO:0035332)|positive regulation of hormone secretion (GO:0046887)|positive regulation of lens epithelial cell proliferation (GO:2001111)|positive regulation of neurogenesis (GO:0050769)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of ossification (GO:0045778)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of stem cell proliferation (GO:2000648)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|signal transduction involved in cell cycle checkpoint (GO:0072395)|skeletal muscle cell differentiation (GO:0035914)|skeletal system development (GO:0001501)|soft palate development (GO:0060023)|somite development (GO:0061053)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|translation (GO:0006412)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	enhancer sequence-specific DNA binding (GO:0001158)|nucleic acid binding transcription factor activity (GO:0001071)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription coactivator activity (GO:0001105)|transcription regulatory region sequence-specific DNA binding (GO:0000976)|translation factor activity, nucleic acid binding (GO:0008135)			central_nervous_system(5)|cervix(1)|endometrium(1)|liver(1)|lung(4)|stomach(1)	13	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			OV - Ovarian serous cystadenocarcinoma(76;0.132)		CTCAAGCACATGGCCGACTAC	0.642																																						ENST00000322002.3																			0				central_nervous_system(5)|cervix(1)|endometrium(1)|liver(1)|lung(4)|stomach(1)	13						c.(328-330)aTg>aAg		SRY (sex determining region Y)-box 11							27	34	32					2																	5833182		2203	4300	6503	SO:0001583	missense	6664				cardiac ventricle formation|closure of optic fissure|cornea development in camera-type eye|embryonic digestive tract morphogenesis|embryonic skeletal system morphogenesis|eyelid development in camera-type eye|glial cell proliferation|hard palate development|lens morphogenesis in camera-type eye|limb bud formation|lung morphogenesis|negative regulation of cell death|negative regulation of glial cell proliferation|negative regulation of lymphocyte proliferation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription regulatory region DNA binding|neural crest cell development|neural tube formation|neuroepithelial cell differentiation|noradrenergic neuron differentiation|outflow tract morphogenesis|positive regulation of BMP signaling pathway|positive regulation of hippo signaling cascade|positive regulation of hormone secretion|positive regulation of neurogenesis|positive regulation of neuron differentiation|positive regulation of ossification|positive regulation of osteoblast differentiation|positive regulation of stem cell proliferation|regulation of transforming growth factor beta receptor signaling pathway|signal transduction involved in G1/S transition checkpoint|soft palate development|somite development|spinal cord development|sympathetic nervous system development|ventricular septum morphogenesis	cytoplasm|nucleolus	enhancer sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|RNA polymerase II transcription coactivator activity|translation factor activity, nucleic acid binding	g.chr2:5833182T>A		CCDS1654.1	2p25	2008-05-21			ENSG00000176887	ENSG00000176887		"SRY (sex determining region Y)-boxes"	11191	protein-coding gene	gene with protein product	"SRY-related HMG-box gene 11"	600898				8666406, 12637543	Standard	NM_003108		Approved		uc002qyj.3	P35716	OTTHUMG00000090333	ENST00000322002.3:c.329T>A	2.37:g.5833182T>A	ENSP00000322568:p.Met110Lys						p.M110K	NM_003108.3	NP_003099.1	P35716	SOX11_HUMAN		OV - Ovarian serous cystadenocarcinoma(76;0.132)	1	384	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)		110					Q4ZFV8	Missense_Mutation	SNP	ENST00000322002.3	37	c.329T>A	CCDS1654.1	.	.	.	.	.	.	.	.	.	.	T	21.6	4.178455	0.78564	.	.	ENSG00000176887	ENST00000322002	D	0.97752	-4.52	2.82	2.82	0.32997	High mobility group, superfamily (1);High mobility group, HMG1/HMG2 (4);	0.000000	0.85682	U	0.000000	D	0.97210	0.9088	L	0.42581	1.335	0.80722	D	1	D	0.58620	0.983	D	0.79108	0.992	D	0.95042	0.8179	10	0.17832	T	0.49	.	11.2381	0.48953	0.0:0.0:0.0:1.0	.	110	P35716	SOX11_HUMAN	K	110	ENSP00000322568:M110K	ENSP00000322568:M110K	M	+	2	0	SOX11	5750633	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.675000	0.61619	1.271000	0.44313	0.391000	0.25812	ATG		0.642	SOX11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206698.1	NM_003108		3	45	0	0	0	0.115264	0	3	45					A	5833182	T	A	5833182	3	1	96	1	0	0	0	0	1	0	0	0	14942	1464	51	5	331	5	SOX11	2	5833182	Missense_Mutation	SNP	T	TCGA-EJ-7784-01A-11D-2114-08		5833182	237366191	12	5387											
MRPL19	9801	broad.mit.edu	37	chr2	75879653	75879653	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcttttgaatttgtaggaagTattcttcgtgttactacagc	9	18	8	6	1	2	1	0	1	2	0	3	2	2	2	0	1	3	3	0	1	6	9			TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	b330d9da-504a-4dfe-b696-ceebe0369ede	g.chr2:75879653T>C	ENST00000393909.2	+	4	370	c.345T>C	c.(343-345)agT>agC	p.S115S	MRPL19_ENST00000358788.6_Silent_p.S115S|MRPL19_ENST00000409374.1_Silent_p.S115S	NM_014763.3	NP_055578.2	P49406	RM19_HUMAN	mitochondrial ribosomal protein L19	115					translation (GO:0006412)	mitochondrion (GO:0005739)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|ribosome (GO:0005840)	structural constituent of ribosome (GO:0003735)			kidney(1)|large_intestine(1)|lung(6)	8						TTGTAGGAAGTATTCTTCGTG	0.383																																						ENST00000393909.2																			0				kidney(1)|large_intestine(1)|lung(6)	8						c.(343-345)agT>agC		mitochondrial ribosomal protein L19							126	115	118					2																	75879653		1830	4076	5906	SO:0001819	synonymous_variant	9801				translation	mitochondrion|nuclear membrane|ribosome	structural constituent of ribosome	g.chr2:75879653T>C	AB051621	CCDS1960.2	2p11.1-q11.2	2012-09-13			ENSG00000115364	ENSG00000115364		"Mitochondrial ribosomal proteins / large subunits"	14052	protein-coding gene	gene with protein product	"39S ribosomal protein L19"	611832				11543634, 17309879	Standard	XM_006712155		Approved	MRP-L15, RPML15, KIAA0104, RLX1	uc002snl.3	P49406	OTTHUMG00000129990	ENST00000393909.2:c.345T>C	2.37:g.75879653T>C						MRPL19_ENST00000358788.6_Silent_p.S115S|MRPL19_ENST00000409374.1_Silent_p.S115S	p.S115S	NM_014763.3	NP_055578.2	P49406	RM19_HUMAN			4	370	+			115					Q53TX9|Q96Q52	Silent	SNP	ENST00000393909.2	37	c.345T>C	CCDS1960.2																																																																																				0.383	MRPL19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252256.1	NM_014763		62	61	0	0	0	0.870114	0	62	61					C	75879653	T	C	75879653	2	2	96	1	0	0	0	0	0	0	0	1	9784	1635	57	4		4	MRPL19	2	75879653	Silent	SNP	T	TCGA-EJ-7784-01A-11D-2114-08	70046471	75879653	167319720	13	5388											
NEB	4703	broad.mit.edu	37	chr2	152521933	152521933	+	Frame_Shift_Del	DEL	G	G	-																															cttcagcttctcggggtgctGgcgatacttcttctcactaa																										TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	b330d9da-504a-4dfe-b696-ceebe0369ede	g.chr2:152521933delG	ENST00000172853.10	-	42	5299	c.5152delC	c.(5152-5154)cagfs	p.Q1718fs	NEB_ENST00000603639.1_Frame_Shift_Del_p.Q1718fs|NEB_ENST00000409198.1_Frame_Shift_Del_p.Q1718fs|NEB_ENST00000604864.1_Frame_Shift_Del_p.Q1718fs|NEB_ENST00000427231.2_Frame_Shift_Del_p.Q1718fs|NEB_ENST00000397345.3_Frame_Shift_Del_p.Q1718fs			P20929	NEBU_HUMAN	nebulin	1718					muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		TCGGGGTGCTGGCGATACTTC	0.493																																						ENST00000427231.2																			0				NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301						c.(5152-5154)agfs		nebulin							235	231	233					2																	152521933		2056	4187	6243	SO:0001589	frameshift_variant	4703				muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle	g.chr2:152521933delG	X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"nemaline myopathy type 2"	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.5152delC	2.37:g.152521933delG	ENSP00000172853:p.Gln1718fs					NEB_ENST00000397345.3_Frame_Shift_Del_p.Q1718fs|NEB_ENST00000604864.1_Frame_Shift_Del_p.Q1718fs|NEB_ENST00000409198.1_Frame_Shift_Del_p.Q1718fs|NEB_ENST00000603639.1_Frame_Shift_Del_p.Q1718fs|NEB_ENST00000172853.10_Frame_Shift_Del_p.Q1718fs	p.Q1718fs	NM_001164507.1	NP_001157979.1	P20929	NEBU_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.219)	42	5354	-			1718					F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Frame_Shift_Del	DEL	ENST00000172853.10	37	c.5152delC																																																																																					0.493	NEB-201	KNOWN	basic	protein_coding	protein_coding		NM_004543		21	16						21	16	---	---	---	---	-	152521933	G	-	152521933	7	5	96	1	0	1	0	1	0	0	0	0	10302	1357	47	0	21098	0	NEB	2	152521933	Frame_Shift_Del	DEL	G	TCGA-EJ-7784-01A-11D-2114-08	76642280	152521933	90677440	14	5389											
PLA2R1	22925	broad.mit.edu	37	chr2	160824131	160824132	+	Frame_Shift_Ins	INS	-	-	T																															ttttctctatgagccaaaccINSttttttcgcttacagatact																										TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	b330d9da-504a-4dfe-b696-ceebe0369ede	g.chr2:160824131_160824132insT	ENST00000283243.7	-	20	3028_3029	c.2822_2823insA	c.(2821-2823)aagfs	p.K941fs	PLA2R1_ENST00000392771.1_Frame_Shift_Ins_p.K941fs	NM_001195641.1|NM_007366.4	NP_001182570.1|NP_031392.3	Q13018	PLA2R_HUMAN	phospholipase A2 receptor 1, 180kDa	941					cytokine production (GO:0001816)|negative regulation of arachidonic acid secretion (GO:1900139)|negative regulation of phospholipase A2 activity (GO:1900138)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of arachidonic acid secretion (GO:0090238)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|reactive oxygen species metabolic process (GO:0072593)|receptor-mediated endocytosis (GO:0006898)|replicative senescence (GO:0090399)	cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	carbohydrate binding (GO:0030246)|phospholipase binding (GO:0043274)|receptor activity (GO:0004872)		PLA2R1/RBMS1(2)	central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(17)|lung(20)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	60						TGAGCCAAACCTTTTTTCGCTT	0.391																																						ENST00000283243.7																		PLA2R1/RBMS1(2)	0				central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(17)|lung(20)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	60						c.(2821-2823)agtfs		phospholipase A2 receptor 1, 180kDa																																				SO:0001589	frameshift_variant	0				endocytosis	extracellular space|integral to plasma membrane	receptor activity|sugar binding	g.chr2:160824131_160824132insT	U17033	CCDS33309.1, CCDS42767.1	2q23-q24	2011-08-30	2002-08-29		ENSG00000153246	ENSG00000153246		"C-type lectin domain containing"	9042	protein-coding gene	gene with protein product		604939	"phospholipase A2 receptor 1, 180kD"			7721806, 7925459	Standard	NM_007366		Approved	PLA2G1R, PLA2IR, PLA2-R, CLEC13C	uc002ube.2	Q13018	OTTHUMG00000154087	ENST00000283243.7:c.2823dupA	2.37:g.160824137_160824137dupT	ENSP00000283243:p.Lys941fs					PLA2R1_ENST00000392771.1_Frame_Shift_Ins_p.S941fs	p.S941fs	NM_001195641.1|NM_007366.4	NP_001182570.1|NP_031392.3	Q13018	PLA2R_HUMAN			20	3028_3029	-			941					B2RTU9|D3DPB1|Q13019|Q15095|Q53R45|Q53RR7	Frame_Shift_Ins	INS	ENST00000283243.7	37	c.2822_2823insA	CCDS33309.1																																																																																				0.391	PLA2R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333820.1			29	22						29	22	---	---	---	---	T	160824132	-	T	160824131	7	5	96	1	0	1	1	0	0	0	0	0	12010	680	24	0	1620	0	PLA2R1	2	160824131	Frame_Shift_Ins	INS	-	TCGA-EJ-7784-01A-11D-2114-08	8302198	160824131	82375242	15	5390											
CXCR2	3579	broad.mit.edu	37	chr2	218999837	218999837	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ccctgaccttgcccatctggGccgcctccaaggtgaatggc	6	8	11	16	1	1	2	0	2	1	0	2	2	2	2	6	3	1	0	6	3	2	1	rs201513058		TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	b330d9da-504a-4dfe-b696-ceebe0369ede	g.chr2:218999837G>C	ENST00000318507.2	+	3	740	c.313G>C	c.(313-315)Gcc>Ccc	p.A105P		NM_001557.3	NP_001548.1	P25025	CXCR2_HUMAN	chemokine (C-X-C motif) receptor 2	105					cell surface receptor signaling pathway (GO:0007166)|cellular defense response (GO:0006968)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|dendritic cell chemotaxis (GO:0002407)|inflammatory response (GO:0006954)|interleukin-8-mediated signaling pathway (GO:0038112)|neutrophil activation (GO:0042119)|neutrophil chemotaxis (GO:0030593)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cell proliferation (GO:0008284)|receptor internalization (GO:0031623)|signal transduction (GO:0007165)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|mast cell granule (GO:0042629)|membrane (GO:0016020)|plasma membrane (GO:0005886)	C-X-C chemokine receptor activity (GO:0016494)|interleukin-8 binding (GO:0019959)|interleukin-8 receptor activity (GO:0004918)|signal transducer activity (GO:0004871)			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(11)|skin(1)|stomach(1)	22						GCCCATCTGGGCCGCCTCCAA	0.552																																						ENST00000318507.2																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(11)|skin(1)|stomach(1)	22						c.(313-315)Gcc>Ccc		chemokine (C-X-C motif) receptor 2							101	99	100					2																	218999837		2203	4298	6501	SO:0001583	missense	3579				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cellular defense response|dendritic cell chemotaxis|inflammatory response|neutrophil activation|neutrophil chemotaxis|positive regulation of cell proliferation	cell surface|integral to plasma membrane|mast cell granule	interleukin-8 receptor activity	g.chr2:218999837G>C	U11869	CCDS2408.1	2q35	2012-08-08	2009-11-25	2009-11-25	ENSG00000180871	ENSG00000180871		"CD molecules", "GPCR / Class A : Chemokine receptors : C-X-C motif", "Interleukins and interleukin receptors"	6027	protein-coding gene	gene with protein product		146928	"interleukin 8 receptor, beta"	IL8RB		1427896	Standard	NM_001557		Approved	CMKAR2, CD182	uc002vha.2	P25025	OTTHUMG00000133107	ENST00000318507.2:c.313G>C	2.37:g.218999837G>C	ENSP00000319635:p.Ala105Pro						p.A105P	NM_001557.3	NP_001548.1	P25025	CXCR2_HUMAN			3	740	+			105					Q8IUZ1|Q9P2T6|Q9P2T7	Missense_Mutation	SNP	ENST00000318507.2	37	c.313G>C	CCDS2408.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.204389	0.79127	.	.	ENSG00000180871	ENST00000453237;ENST00000415392;ENST00000318507;ENST00000454148;ENST00000428565	T;T;T;T;T	0.39056	1.1;1.1;1.1;1.1;1.1	5.06	5.06	0.68205	GPCR, rhodopsin-like superfamily (1);	0.121291	0.56097	D	0.000040	T	0.72961	0.3526	H	0.95611	3.695	0.41269	D	0.986838	D	0.89917	1.0	D	0.81914	0.995	T	0.80926	-0.1164	10	0.72032	D	0.01	.	12.7008	0.57032	0.0:0.0:0.8349:0.1651	.	105	P25025	CXCR2_HUMAN	P	105	ENSP00000413686:A105P;ENSP00000392348:A105P;ENSP00000319635:A105P;ENSP00000415148:A105P;ENSP00000392698:A105P	ENSP00000319635:A105P	A	+	1	0	CXCR2	218708082	1.000000	0.71417	0.993000	0.49108	0.916000	0.54674	9.663000	0.98605	2.529000	0.85273	0.456000	0.33151	GCC		0.552	CXCR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256772.2	NM_001557		52	86	0	0	0	0.870114	0	52	86					C	218999837	G	C	218999837	3	2	96	1	0	0	0	0	1	0	0	0	4091	1203	42	5	315	5	CXCR2	2	218999837	Missense_Mutation	SNP	G	TCGA-EJ-7784-01A-11D-2114-08	58175706	218999837	24199536	16	5391											
PASK	23178	broad.mit.edu	37	chr2	242080067	242080067	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggacacactgccccgcggttCggacgggtccgtgtgctcag	5	7	15	14	5	1	0	1	0	0	0	3	2	2	2	3	4	2	2	3	4	0	1	rs199606444		TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	b330d9da-504a-4dfe-b696-ceebe0369ede	g.chr2:242080067C>T	ENST00000405260.1	-	3	996	c.298G>A	c.(298-300)Gaa>Aaa	p.E100K	PASK_ENST00000544142.1_Intron|PASK_ENST00000403638.3_Missense_Mutation_p.E100K|PASK_ENST00000358649.4_Missense_Mutation_p.E100K|PASK_ENST00000234040.4_Missense_Mutation_p.E100K|PASK_ENST00000539818.1_Intron	NM_001252120.1	NP_001239049.1	Q96RG2	PASK_HUMAN	PAS domain containing serine/threonine kinase	100					negative regulation of glycogen biosynthetic process (GO:0045719)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of energy homeostasis (GO:2000505)|regulation of glucagon secretion (GO:0070092)|regulation of respiratory gaseous exchange (GO:0043576)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	ATP binding (GO:0005524)|phosphatidylinositol binding (GO:0035091)|protein serine/threonine kinase activity (GO:0004674)|signal transducer activity (GO:0004871)	p.E100K(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(20)|ovary(4)|prostate(4)|skin(1)|stomach(1)|urinary_tract(2)	53		all_cancers(19;4.46e-39)|all_epithelial(40;1.34e-17)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00481)|Lung NSC(271;0.017)|Ovarian(221;0.0228)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;1.34e-31)|all cancers(36;1e-28)|OV - Ovarian serous cystadenocarcinoma(60;3.53e-14)|Kidney(56;4.31e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.35e-08)|BRCA - Breast invasive adenocarcinoma(100;5.64e-06)|Lung(119;0.000596)|LUSC - Lung squamous cell carcinoma(224;0.00481)|Colorectal(34;0.014)|COAD - Colon adenocarcinoma(134;0.0968)		CCCCGCGGTTCGGACGGGTCC	0.597													C|||	1	0.000199681	0	0.0014	5008	,	,		18474	0		0	False		,,,				2504	0					ENST00000403638.3																			2	Substitution - Missense(2)	p.E100K(2)	endometrium(2)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(20)|ovary(4)|prostate(4)|skin(1)|stomach(1)|urinary_tract(2)	53						c.(298-300)Gaa>Aaa		PAS domain containing serine/threonine kinase							73	71	72					2																	242080067		2203	4300	6503	SO:0001583	missense	23178				regulation of transcription, DNA-dependent	Golgi apparatus	ATP binding|identical protein binding|protein serine/threonine kinase activity|signal transducer activity	g.chr2:242080067C>T	U79240	CCDS2545.1, CCDS58758.1, CCDS58759.1	2q37.3	2008-05-23			ENSG00000115687	ENSG00000115687			17270	protein-coding gene	gene with protein product		607505				11688972, 11459942, 15148392	Standard	NM_001252119		Approved	PASKIN, KIAA0135, STK37	uc010fzl.2	Q96RG2	OTTHUMG00000133392	ENST00000405260.1:c.298G>A	2.37:g.242080067C>T	ENSP00000384016:p.Glu100Lys					PASK_ENST00000539818.1_Intron|PASK_ENST00000544142.1_Intron|PASK_ENST00000405260.1_Missense_Mutation_p.E100K|PASK_ENST00000234040.4_Missense_Mutation_p.E100K|PASK_ENST00000358649.4_Missense_Mutation_p.E100K	p.E100K	NM_001252124.1	NP_001239053.1	Q96RG2	PASK_HUMAN		Epithelial(32;1.34e-31)|all cancers(36;1e-28)|OV - Ovarian serous cystadenocarcinoma(60;3.53e-14)|Kidney(56;4.31e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.35e-08)|BRCA - Breast invasive adenocarcinoma(100;5.64e-06)|Lung(119;0.000596)|LUSC - Lung squamous cell carcinoma(224;0.00481)|Colorectal(34;0.014)|COAD - Colon adenocarcinoma(134;0.0968)	3	389	-		all_cancers(19;4.46e-39)|all_epithelial(40;1.34e-17)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00481)|Lung NSC(271;0.017)|Ovarian(221;0.0228)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)	100					G5E9F1|Q05BE4|Q68DY3|Q6GSJ5|Q86XH6|Q99763|Q9UFR7	Missense_Mutation	SNP	ENST00000405260.1	37	c.298G>A	CCDS2545.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	8.811	0.935201	0.18206	.	.	ENSG00000115687	ENST00000234040;ENST00000405260;ENST00000358649;ENST00000403638;ENST00000452907	T;T;T;T	0.66280	-0.2;-0.2;-0.15;0.8	4.67	2.85	0.33270	.	0.549745	0.16193	N	0.225290	T	0.36991	0.0987	N	0.08118	0	0.09310	N	0.999997	B;B;B;B	0.10296	0.0;0.001;0.003;0.0	B;B;B;B	0.01281	0.0;0.0;0.0;0.0	T	0.25293	-1.0136	10	0.66056	D	0.02	.	4.3947	0.11356	0.178:0.6292:0.0:0.1928	.	100;100;100;100	B7Z7R6;Q96RG2-2;G5E9F1;Q96RG2	.;.;.;PASK_HUMAN	K	100	ENSP00000234040:E100K;ENSP00000384016:E100K;ENSP00000351475:E100K;ENSP00000384438:E100K	ENSP00000234040:E100K	E	-	1	0	PASK	241728740	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	-1.427000	0.02441	0.496000	0.27904	0.561000	0.74099	GAA		0.597	PASK-003	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000323753.1	NM_015148		8	78	0	0	0	0.335167	0	8	78					T	242080067	C	T	242080067	3	4	96	1	0	0	0	0	1	0	0	0	11472	893	31	2	3737	2	PASK	2	242080067	Missense_Mutation	SNP	C	TCGA-EJ-7784-01A-11D-2114-08	23080230	242080067	1119306	17	5392											
TRAK1	22906	broad.mit.edu	37	chr3	42242450	42242450	+	Frame_Shift_Del	DEL	C	C	-																															cctgtccagctgcgtcagcaCcccccggtccagcttctacg																										TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	b330d9da-504a-4dfe-b696-ceebe0369ede	g.chr3:42242450delC	ENST00000327628.5	+	12	1731	c.1331delC	c.(1330-1332)accfs	p.T444fs	TRAK1_ENST00000396175.1_Frame_Shift_Del_p.T386fs|TRAK1_ENST00000341421.3_Frame_Shift_Del_p.T386fs|TRAK1_ENST00000449246.1_Frame_Shift_Del_p.T370fs|TRAK1_ENST00000487159.1_3'UTR	NM_001042646.2	NP_001036111.1	Q9UPV9	TRAK1_HUMAN	trafficking protein, kinesin binding 1	444	Interaction with HGS.				endosome to lysosome transport (GO:0008333)|protein O-linked glycosylation (GO:0006493)|protein targeting (GO:0006605)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|mitochondrion (GO:0005739)|nucleus (GO:0005634)				central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	22						TGCGTCAGCACCCCCCGGTCC	0.592																																					GBM(44;195 884 22595 31865 41850)	ENST00000327628.5																			0				central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	22						c.(1330-1332)acfs		trafficking protein, kinesin binding 1							117	110	112					3																	42242450		2203	4300	6503	SO:0001589	frameshift_variant	22906				endosome to lysosome transport|protein O-linked glycosylation|protein targeting|regulation of transcription from RNA polymerase II promoter	early endosome|mitochondrion|nucleus		g.chr3:42242450delC		CCDS2695.1, CCDS43072.1, CCDS58826.1, CCDS74922.1	3p22.1	2012-03-05			ENSG00000182606	ENSG00000182606			29947	protein-coding gene	gene with protein product	"OGT(O Glc NAc transferase) interacting protein 106 KDa", "O-linked N-acetylglucosamine transferase interacting protein 106", "milton homolog 1 (Drosophila)"	608112				10470851, 12435728, 16380713, 20230862	Standard	NM_014965		Approved	OIP106, KIAA1042, MILT1	uc003cky.4	Q9UPV9	OTTHUMG00000131795	ENST00000327628.5:c.1331delC	3.37:g.42242450delC	ENSP00000328998:p.Thr444fs					TRAK1_ENST00000396175.1_Frame_Shift_Del_p.T386fs|TRAK1_ENST00000341421.3_Frame_Shift_Del_p.T386fs|TRAK1_ENST00000487159.1_3'UTR|TRAK1_ENST00000449246.1_Frame_Shift_Del_p.T370fs	p.T444fs	NM_001042646.2	NP_001036111.1	Q9UPV9	TRAK1_HUMAN			12	1731	+			444			Interaction with HGS.		E9PDS2|J3KNT7|Q63HR0|Q659B5|Q96B69	Frame_Shift_Del	DEL	ENST00000327628.5	37	c.1331delC	CCDS43072.1																																																																																				0.592	TRAK1-004	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343413.1	NM_014965		7	289						7	289	---	---	---	---	-	42242450	C	-	42242450	7	5	96	1	0	1	0	1	0	0	0	0	16446	507	18	0	1493	0	TRAK1	3	42242450	Frame_Shift_Del	DEL	C	TCGA-EJ-7784-01A-11D-2114-08		42242450	155779980	18	5393											
DNAH1	25981	broad.mit.edu	37	chr3	52402841	52402841	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tggtacatgttcgatgggccGgtggatgccatctggattga	7	12	15	7	2	1	1	0	1	1	0	2	4	1	3	2	5	2	2	2	5	1	3	rs374690567		TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	b330d9da-504a-4dfe-b696-ceebe0369ede	g.chr3:52402841G>A	ENST00000420323.2	+	37	6111	c.5850G>A	c.(5848-5850)ccG>ccA	p.P1950P		NM_015512.4	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	1950	AAA 2. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|response to mechanical stimulus (GO:0009612)	axonemal dynein complex (GO:0005858)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		TCGATGGGCCGGTGGATGCCA	0.572																																						ENST00000420323.2																			0				cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62						c.(5848-5850)ccG>ccA		dynein, axonemal, heavy chain 1		G		0,4196		0,0,2098	137	142	140		5850	-9.9	0.2	3		140	6,8466		0,6,4230	no	coding-synonymous	DNAH1	NM_015512.4		0,6,6328	AA,AG,GG		0.0708,0.0,0.0474		1950/4266	52402841	6,12662	2098	4236	6334	SO:0001819	synonymous_variant	25981				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr3:52402841G>A	U61738	CCDS46842.1	3p21-p14	2008-02-05	2006-09-04		ENSG00000114841	ENSG00000114841		"Axonemal dyneins"	2940	protein-coding gene	gene with protein product		603332	"dynein, axonemal, heavy polypeptide 1"			8812413, 9256245	Standard	NM_015512		Approved	XLHSRF-1, DNAHC1, HDHC7, HL-11, HL11	uc011bef.2	Q9P2D7	OTTHUMG00000158378	ENST00000420323.2:c.5850G>A	3.37:g.52402841G>A							p.P1950P	NM_015512.4	NP_056327.4	Q9P2D7	DYH1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	37	6111	+			1950			AAA 2 (By similarity).		B0I1R6|O00436|O15435|O95491|Q6ZU48|Q86YK7|Q8TEJ4|Q92863|Q9H8E6|Q9UFW6|Q9Y4Z7	Silent	SNP	ENST00000420323.2	37	c.5850G>A	CCDS46842.1																																																																																				0.572	DNAH1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350816.1	NM_015512		4	241	0	0	0	0.150653	0	4	241					A	52402841	G	A	52402841	2	1	96	1	0	0	0	0	0	0	0	1	4597	1103	39	2		2	DNAH1	3	52402841	Silent	SNP	G	TCGA-EJ-7784-01A-11D-2114-08	10160391	52402841	145619589	19	5394											
WNT5A	7474	broad.mit.edu	37	chr3	55508372	55508372	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	acgcggcactcaccctgcggCcggcctcgttgttgtgcagg	4	8	14	15	5	1	0	1	0	0	0	2	0	1	0	3	4	2	4	3	4	0	2			TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	b330d9da-504a-4dfe-b696-ceebe0369ede	g.chr3:55508372C>T	ENST00000474267.1	-	5	1198	c.677G>A	c.(676-678)gGc>gAc	p.G226D	WNT5A_ENST00000497027.1_Missense_Mutation_p.G211D|WNT5A_ENST00000264634.4_Missense_Mutation_p.G226D			P41221	WNT5A_HUMAN	wingless-type MMTV integration site family, member 5A	226					activation of JUN kinase activity (GO:0007257)|activation of MAPK activity (GO:0000187)|activation of protein kinase B activity (GO:0032148)|ameboidal cell migration (GO:0001667)|anterior/posterior axis specification, embryo (GO:0008595)|axon guidance (GO:0007411)|canonical Wnt signaling pathway (GO:0060070)|cartilage development (GO:0051216)|cell fate commitment (GO:0045165)|cellular protein localization (GO:0034613)|cellular response to calcium ion (GO:0071277)|cellular response to interferon-gamma (GO:0071346)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to retinoic acid (GO:0071300)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cervix development (GO:0060067)|cochlea morphogenesis (GO:0090103)|convergent extension involved in organogenesis (GO:0060029)|dopaminergic neuron differentiation (GO:0071542)|embryonic digit morphogenesis (GO:0042733)|embryonic skeletal system development (GO:0048706)|epithelial cell proliferation involved in mammary gland duct elongation (GO:0060750)|epithelial to mesenchymal transition (GO:0001837)|establishment of planar polarity (GO:0001736)|face development (GO:0060324)|genitalia development (GO:0048806)|heart looping (GO:0001947)|hematopoietic stem cell proliferation (GO:0071425)|hindgut morphogenesis (GO:0007442)|hypophysis morphogenesis (GO:0048850)|keratinocyte differentiation (GO:0030216)|lateral sprouting involved in mammary gland duct morphogenesis (GO:0060599)|lens development in camera-type eye (GO:0002088)|lung development (GO:0030324)|male gonad development (GO:0008584)|mammary gland branching involved in thelarche (GO:0060744)|mesenchymal-epithelial cell signaling (GO:0060638)|midgut development (GO:0007494)|negative chemotaxis (GO:0050919)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|negative regulation of mesenchymal cell proliferation (GO:0072201)|negative regulation of prostatic bud formation (GO:0060686)|negative regulation of synapse assembly (GO:0051964)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|neuron differentiation (GO:0030182)|non-canonical Wnt signaling pathway via JNK cascade (GO:0038031)|olfactory bulb interneuron development (GO:0021891)|optic cup formation involved in camera-type eye development (GO:0003408)|palate development (GO:0060021)|planar cell polarity pathway involved in cardiac muscle tissue morphogenesis (GO:0061350)|planar cell polarity pathway involved in cardiac right atrium morphogenesis (GO:0061349)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|planar cell polarity pathway involved in outflow tract morphogenesis (GO:0061347)|planar cell polarity pathway involved in pericardium morphogenesis (GO:0061354)|planar cell polarity pathway involved in ventricular septum morphogenesis (GO:0061348)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cartilage development (GO:0061036)|positive regulation of cell-cell adhesion mediated by cadherin (GO:2000049)|positive regulation of cGMP metabolic process (GO:0030825)|positive regulation of chemokine biosynthetic process (GO:0045080)|positive regulation of cytokine secretion involved in immune response (GO:0002741)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 secretion (GO:2000484)|positive regulation of JNK cascade (GO:0046330)|positive regulation of macrophage activation (GO:0043032)|positive regulation of macrophage cytokine production (GO:0060907)|positive regulation of meiosis (GO:0045836)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of neuron projection development (GO:0010976)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of ossification (GO:0045778)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein kinase C signaling (GO:0090037)|positive regulation of response to cytokine stimulus (GO:0060760)|positive regulation of T cell chemotaxis (GO:0010820)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340)|post-anal tail morphogenesis (GO:0036342)|primitive streak formation (GO:0090009)|protein phosphorylation (GO:0006468)|regulation of branching involved in mammary gland duct morphogenesis (GO:0060762)|response to organic substance (GO:0010033)|somitogenesis (GO:0001756)|type B pancreatic cell development (GO:0003323)|urinary bladder development (GO:0060157)|uterus development (GO:0060065)|vagina development (GO:0060068)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway, calcium modulating pathway (GO:0007223)|wound healing (GO:0042060)	cell surface (GO:0009986)|clathrin-coated endocytic vesicle membrane (GO:0030669)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)|receptor agonist activity (GO:0048018)|receptor tyrosine kinase-like orphan receptor binding (GO:0005115)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|endometrium(1)|large_intestine(4)|lung(3)|prostate(2)|urinary_tract(1)	13				KIRC - Kidney renal clear cell carcinoma(284;0.00377)|Kidney(284;0.00408)|OV - Ovarian serous cystadenocarcinoma(275;0.204)		CACCCTGCGGCCGGCCTCGTT	0.672																																						ENST00000474267.1																			0				breast(2)|endometrium(1)|large_intestine(4)|lung(3)|prostate(2)|urinary_tract(1)	13						c.(676-678)gGc>gAc		wingless-type MMTV integration site family, member 5A							19	25	23					3																	55508372		2188	4294	6482	SO:0001583	missense	7474				activation of JUN kinase activity|activation of protein kinase B activity|axon guidance|cartilage development|cellular protein localization|cellular response to calcium ion|cellular response to interferon-gamma|cellular response to lipopolysaccharide|cellular response to retinoic acid|cellular response to transforming growth factor beta stimulus|cervix development|cochlea morphogenesis|convergent extension involved in organogenesis|dopaminergic neuron differentiation|dorsal/ventral axis specification|embryonic digit morphogenesis|embryonic skeletal system development|epithelial cell proliferation involved in mammary gland duct elongation|epithelial to mesenchymal transition|face development|genitalia development|heart looping|hemopoietic stem cell proliferation|keratinocyte differentiation|lateral sprouting involved in mammary gland duct morphogenesis|lens development in camera-type eye|male gonad development|mammary gland branching involved in thelarche|negative regulation of apoptosis|negative regulation of BMP signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of fat cell differentiation|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of mesenchymal cell proliferation|negative regulation of transcription, DNA-dependent|neural tube closure|olfactory bulb interneuron development|optic cup formation involved in camera-type eye development|palate development|positive regulation of angiogenesis|positive regulation of cartilage development|positive regulation of cGMP metabolic process|positive regulation of chemokine biosynthetic process|positive regulation of cytokine secretion involved in immune response|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of fibroblast proliferation|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-6 production|positive regulation of JNK cascade|positive regulation of macrophage activation|positive regulation of macrophage cytokine production|positive regulation of mesenchymal cell proliferation|positive regulation of neuron projection development|positive regulation of NF-kappaB transcription factor activity|positive regulation of ossification|positive regulation of protein catabolic process|positive regulation of protein kinase C signaling cascade|positive regulation of T cell chemotaxis|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|primitive streak formation|regulation of branching involved in mammary gland duct morphogenesis|somitogenesis|tail morphogenesis|type B pancreatic cell development|urinary bladder development|uterus development|vagina development|Wnt receptor signaling pathway, calcium modulating pathway|wound healing	extracellular space|membrane fraction|plasma membrane|proteinaceous extracellular matrix	frizzled binding|frizzled-2 binding|receptor tyrosine kinase-like orphan receptor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	g.chr3:55508372C>T	L20861	CCDS46850.1, CCDS58835.1	3p21-p14	2013-02-28			ENSG00000114251	ENSG00000114251		"Wingless-type MMTV integration sites", "Endogenous ligands"	12784	protein-coding gene	gene with protein product	"WNT-5A protein"	164975				8288227	Standard	NM_001256105		Approved	hWNT5A	uc010hmw.4	P41221	OTTHUMG00000158361	ENST00000474267.1:c.677G>A	3.37:g.55508372C>T	ENSP00000417310:p.Gly226Asp					WNT5A_ENST00000497027.1_Missense_Mutation_p.G211D|WNT5A_ENST00000264634.4_Missense_Mutation_p.G226D	p.G226D			P41221	WNT5A_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.00377)|Kidney(284;0.00408)|OV - Ovarian serous cystadenocarcinoma(275;0.204)	5	1198	-			226					A8K4A4|Q6P278	Missense_Mutation	SNP	ENST00000474267.1	37	c.677G>A	CCDS46850.1	.	.	.	.	.	.	.	.	.	.	C	34	5.386784	0.95967	.	.	ENSG00000114251	ENST00000474267;ENST00000264634;ENST00000536765;ENST00000497027;ENST00000482079	D;D;D;D	0.85339	-1.97;-1.97;-1.97;-1.97	4.63	4.63	0.57726	.	0.000000	0.85682	D	0.000000	D	0.95850	0.8649	H	0.98996	4.395	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98109	1.0419	10	0.87932	D	0	.	17.8575	0.88769	0.0:1.0:0.0:0.0	.	226	P41221	WNT5A_HUMAN	D	226;226;137;211;211	ENSP00000417310:G226D;ENSP00000264634:G226D;ENSP00000420104:G211D;ENSP00000418184:G211D	ENSP00000264634:G226D	G	-	2	0	WNT5A	55483412	1.000000	0.71417	0.999000	0.59377	0.956000	0.61745	7.636000	0.83301	2.275000	0.75901	0.557000	0.71058	GGC		0.672	WNT5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350793.3	NM_003392		7	46	0	0	0	0.335167	0	7	46					T	55508372	C	T	55508372	3	4	96	1	0	0	0	0	1	0	0	0	17388	739	26	3	473	3	WNT5A	3	55508372	Missense_Mutation	SNP	C	TCGA-EJ-7784-01A-11D-2114-08	3105531	55508372	142514058	20	5395											
FSTL1	11167	broad.mit.edu	37	chr3	120130764	120130764	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaggcaggcatctcgatgcaGttcacagtggttgaggtagg	9	9	16	7	1	2	1	1	1	1	0	3	3	2	1	0	5	1	6	0	5	1	3			TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	b330d9da-504a-4dfe-b696-ceebe0369ede	g.chr3:120130764G>A	ENST00000295633.3	-	4	591	c.235C>T	c.(235-237)Ctg>Ttg	p.L79L	FSTL1_ENST00000424703.2_Silent_p.L44L	NM_007085.4	NP_009016.1	Q12841	FSTL1_HUMAN	follistatin-like 1	79	Kazal-like. {ECO:0000255|PROSITE- ProRule:PRU00798}.				BMP signaling pathway (GO:0030509)|response to starvation (GO:0042594)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|skin(1)	20				GBM - Glioblastoma multiforme(114;0.189)		TCTCGATGCAGTTCACAGTGG	0.493																																						ENST00000295633.3																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|skin(1)	20						c.(235-237)Ctg>Ttg		follistatin-like 1							247	196	213					3																	120130764		2203	4300	6503	SO:0001819	synonymous_variant	11167				BMP signaling pathway	extracellular space	calcium ion binding|heparin binding	g.chr3:120130764G>A	U06863	CCDS2998.1	3q13.33	2013-01-10			ENSG00000163430	ENSG00000163430		"EF-hand domain containing"	3972	protein-coding gene	gene with protein product		605547				7957230, 9786430	Standard	NM_007085		Approved	FRP, FSL1	uc003eds.3	Q12841	OTTHUMG00000159440	ENST00000295633.3:c.235C>T	3.37:g.120130764G>A						FSTL1_ENST00000424703.2_Silent_p.L44L	p.L79L	NM_007085.4	NP_009016.1	Q12841	FSTL1_HUMAN		GBM - Glioblastoma multiforme(114;0.189)	4	591	-			79			Kazal-like.		A8K523|B4DTT5|D3DN90|Q549Z0	Silent	SNP	ENST00000295633.3	37	c.235C>T	CCDS2998.1																																																																																				0.493	FSTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355399.1	NM_007085		4	157	0	0	0	0.184627	0	4	157					A	120130764	G	A	120130764	2	1	96	1	0	0	0	0	0	0	0	1	6077	1020	36	3		3	FSTL1	3	120130764	Silent	SNP	G	TCGA-EJ-7784-01A-11D-2114-08	64622392	120130764	77891666	21	5396											
IGSF10	285313	broad.mit.edu	37	chr3	151163868	151163868	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acttgagtctttgcttataaTactaggaagcatagggttaa	13	14	9	5	0	1	1	0	1	1	0	1	2	1	2	0	2	3	3	0	2	7	8			TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	b330d9da-504a-4dfe-b696-ceebe0369ede	g.chr3:151163868T>C	ENST00000282466.3	-	4	3900	c.3901A>G	c.(3901-3903)Att>Gtt	p.I1301V		NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	1301					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)	extracellular region (GO:0005576)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			TTGCTTATAATACTAGGAAGC	0.443																																						ENST00000282466.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116						c.(3901-3903)Att>Gtt		immunoglobulin superfamily, member 10							256	238	244					3																	151163868		2203	4300	6503	SO:0001583	missense	285313				cell differentiation|multicellular organismal development|ossification	extracellular region		g.chr3:151163868T>C	AY273815	CCDS3160.1	3q25.1	2013-01-11			ENSG00000152580	ENSG00000152580		"Immunoglobulin superfamily / I-set domain containing"	26384	protein-coding gene	gene with protein product						12477932	Standard	NM_178822		Approved	FLJ25972, CMF608	uc011bod.2	Q6WRI0	OTTHUMG00000159856	ENST00000282466.3:c.3901A>G	3.37:g.151163868T>C	ENSP00000282466:p.Ile1301Val						p.I1301V	NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)		4	3900	-			1301					Q86YJ9|Q8N772|Q8NA84	Missense_Mutation	SNP	ENST00000282466.3	37	c.3901A>G	CCDS3160.1	.	.	.	.	.	.	.	.	.	.	T	0.314	-0.966112	0.02232	.	.	ENSG00000152580	ENST00000282466	T	0.68624	-0.34	4.41	-3.71	0.04424	.	1.625110	0.04129	N	0.317669	T	0.46560	0.1399	L	0.27053	0.805	0.09310	N	1	B	0.16396	0.017	B	0.12156	0.007	T	0.17379	-1.0371	10	0.36615	T	0.2	.	1.2034	0.01890	0.1359:0.1719:0.2789:0.4132	.	1301	Q6WRI0	IGS10_HUMAN	V	1301	ENSP00000282466:I1301V	ENSP00000282466:I1301V	I	-	1	0	IGSF10	152646558	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.009000	0.03660	-0.397000	0.07691	-0.504000	0.04507	ATT		0.443	IGSF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357782.1	NM_178822		86	94	0	0	0	0.870114	0	86	94					C	151163868	T	C	151163868	3	2	96	1	0	0	0	0	1	0	0	0	7597	1406	49	4	4030	4	IGSF10	3	151163868	Missense_Mutation	SNP	T	TCGA-EJ-7784-01A-11D-2114-08	31033104	151163868	46858562	22	5397											
MECOM	2122	broad.mit.edu	37	chr3	168834358	168834358	+	Silent	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tggccaaaaaatccacctgcCgcaaaatggttcttgccctc	11	9	7	14	1	1	0	0	0	1	0	3	0	2	0	5	2	2	2	5	2	5	2	rs199815249	byFrequency	TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	b330d9da-504a-4dfe-b696-ceebe0369ede	g.chr3:168834358C>G	ENST00000464456.1	-	7	1938	c.738G>C	c.(736-738)gcG>gcC	p.A246A	MECOM_ENST00000468789.1_Silent_p.A246A|MECOM_ENST00000460814.1_Silent_p.A246A|MECOM_ENST00000392736.3_Silent_p.A246A|MECOM_ENST00000494292.1_Silent_p.A434A|MECOM_ENST00000433243.2_Silent_p.A247A|MECOM_ENST00000264674.3_Silent_p.A311A|MECOM_ENST00000472280.1_Silent_p.A247A	NM_001164000.1	NP_001157472.1	Q13465	MDS1_HUMAN	MDS1 and EVI1 complex locus	0					regulation of transcription, DNA-templated (GO:0006355)		sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						ATCCACCTGCCGCAAAATGGT	0.468																																						ENST00000464456.1																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						c.(736-738)gcG>gcC		MDS1 and EVI1 complex locus							357	306	323					3																	168834358		2203	4300	6503	SO:0001819	synonymous_variant	2122						sequence-specific DNA binding transcription factor activity	g.chr3:168834358C>G	S82592, AF164154	CCDS3205.1, CCDS54669.1, CCDS54670.1	3q26.2	2013-01-08	2009-08-07	2009-08-07	ENSG00000085276	ENSG00000085276		"Zinc fingers, C2H2-type"	3498	protein-coding gene	gene with protein product		165215	"myelodysplasia syndrome 1", "ecotropic viral integration site 1"	MDS1, EVI1		2115646, 8171026, 8643684	Standard	NM_001105077		Approved	MDS1-EVI1, PRDM3	uc011bpj.1	Q03112	OTTHUMG00000158596	ENST00000464456.1:c.738G>C	3.37:g.168834358C>G						MECOM_ENST00000494292.1_Silent_p.A434A|MECOM_ENST00000460814.1_Silent_p.A246A|MECOM_ENST00000433243.2_Silent_p.A247A|MECOM_ENST00000472280.1_Silent_p.A247A|MECOM_ENST00000392736.3_Silent_p.A246A|MECOM_ENST00000468789.1_Silent_p.A246A|MECOM_ENST00000264674.3_Silent_p.A311A	p.A246A	NM_001164000.1	NP_001157472.1	Q13465	MDS1_HUMAN			7	1938	-			0					Q13466|Q6FH90	Silent	SNP	ENST00000464456.1	37	c.738G>C	CCDS54669.1																																																																																				0.468	MECOM-020	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000351519.1	NM_005241, NM_004991		12	159	0	0	0	0.411799	0	12	159					G	168834358	C	G	168834358	2	3	96	1	0	0	0	0	0	0	0	1	9422	639	23	5		5	MECOM	3	168834358	Silent	SNP	C	TCGA-EJ-7784-01A-11D-2114-08	17670490	168834358	29188072	23	5398											
DNAJB11	51726	broad.mit.edu	37	chr3	186299282	186299282	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atgacccaggaggtggtctgCgacgaatgccctaatgtcaa	11	8	12	10	2	2	1	1	1	1	0	2	4	2	2	2	3	2	0	2	3	3	1			TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	b330d9da-504a-4dfe-b696-ceebe0369ede	g.chr3:186299282C>T	ENST00000439351.1	+	6	1508	c.579C>T	c.(577-579)tgC>tgT	p.C193C	DNAJB11_ENST00000265028.3_Silent_p.C193C			Q9UBS4	DJB11_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 11	193					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|mRNA modification (GO:0016556)|protein folding (GO:0006457)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|urinary_tract(2)	15	all_cancers(143;2.84e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.44e-20)	GBM - Glioblastoma multiforme(93;0.0476)		AGGTGGTCTGCGACGAATGCC	0.502																																						ENST00000439351.1																			0				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|urinary_tract(2)	15						c.(577-579)tgC>tgT		DnaJ (Hsp40) homolog, subfamily B, member 11							82	84	84					3																	186299282		2203	4300	6503	SO:0001819	synonymous_variant	51726				protein folding	endoplasmic reticulum lumen	heat shock protein binding	g.chr3:186299282C>T	AB028859	CCDS3277.1	3q27	2011-09-02			ENSG00000090520	ENSG00000090520		"Heat shock proteins / DNAJ (HSP40)"	14889	protein-coding gene	gene with protein product		611341				10827079, 11147971	Standard	NM_016306		Approved	EDJ, HEDJ, ERdj3	uc003fqi.3	Q9UBS4	OTTHUMG00000156614	ENST00000439351.1:c.579C>T	3.37:g.186299282C>T						DNAJB11_ENST00000265028.3_Silent_p.C193C	p.C193C			Q9UBS4	DJB11_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1.44e-20)	GBM - Glioblastoma multiforme(93;0.0476)	6	1508	+	all_cancers(143;2.84e-12)|Ovarian(172;0.0339)		193					Q542Y5|Q542Y9|Q6IAQ8|Q96JC6	Silent	SNP	ENST00000439351.1	37	c.579C>T	CCDS3277.1																																																																																				0.502	DNAJB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344779.1			8	89	0	0	0	0.335167	0	8	89					T	186299282	C	T	186299282	2	4	96	1	0	0	0	0	0	0	0	1	4616	776	27	1		1	DNAJB11	3	186299282	Silent	SNP	C	TCGA-EJ-7784-01A-11D-2114-08	17464924	186299282	11723148	24	5399											
OTOP1	133060	broad.mit.edu	37	chr4	4199531	4199531	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gaacatgatgagtgccgactCgctcttggtcttggagcgcc	7	10	13	11	3	2	2	0	2	2	0	3	5	2	3	2	2	3	1	2	2	1	2			TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	b330d9da-504a-4dfe-b696-ceebe0369ede	g.chr4:4199531C>T	ENST00000296358.4	-	5	1054	c.1030G>A	c.(1030-1032)Gag>Aag	p.E344K		NM_177998.1	NP_819056.1	Q7RTM1	OTOP1_HUMAN	otopetrin 1	344					biomineral tissue development (GO:0031214)|detection of gravity (GO:0009590)|inner ear morphogenesis (GO:0042472)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)				NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|liver(4)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		AGTGCCGACTCGCTCTTGGTC	0.577																																						ENST00000296358.4																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|liver(4)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34						c.(1030-1032)Gag>Aag		otopetrin 1							50	49	49					4																	4199531		2203	4300	6503	SO:0001583	missense	133060				biomineral tissue development	extracellular space|integral to membrane		g.chr4:4199531C>T	BK000653	CCDS3372.1	4p16.2	2008-02-05			ENSG00000163982	ENSG00000163982			19656	protein-coding gene	gene with protein product		607806				12651873	Standard	NM_177998		Approved		uc003ghp.1	Q7RTM1	OTTHUMG00000090301	ENST00000296358.4:c.1030G>A	4.37:g.4199531C>T	ENSP00000296358:p.Glu344Lys						p.E344K	NM_177998.1	NP_819056.1	Q7RTM1	OTOP1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.168)	5	1054	-			344					A1L476	Missense_Mutation	SNP	ENST00000296358.4	37	c.1030G>A	CCDS3372.1	.	.	.	.	.	.	.	.	.	.	C	16.29	3.082908	0.55861	.	.	ENSG00000163982	ENST00000296358	T	0.19938	2.11	4.8	3.95	0.45737	.	0.058282	0.64402	D	0.000002	T	0.43478	0.1249	M	0.69823	2.125	0.58432	D	0.999999	D	0.76494	0.999	D	0.63793	0.918	T	0.47328	-0.9126	10	0.66056	D	0.02	-5.9162	15.2829	0.73801	0.0:0.8589:0.1411:0.0	.	344	Q7RTM1	OTOP1_HUMAN	K	344	ENSP00000296358:E344K	ENSP00000296358:E344K	E	-	1	0	OTOP1	4250432	1.000000	0.71417	0.998000	0.56505	0.160000	0.22226	4.530000	0.60595	1.137000	0.42214	-0.714000	0.03626	GAG		0.577	OTOP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206661.2	NM_177998		32	62	0	0	0	0.853193	0	32	62					T	4199531	C	T	4199531	3	4	96	1	0	0	0	0	1	0	0	0	11305	893	31	2	816	2	OTOP1	4	4199531	Missense_Mutation	SNP	C	TCGA-EJ-7784-01A-11D-2114-08		4199531	186954745	25	5400											
ENOPH1	58478	broad.mit.edu	37	chr4	83376002	83376002	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attctacggagggagatattCttgaggtaggttacctagtt	10	14	12	5	1	2	2	0	1	2	1	2	4	2	3	1	4	2	3	1	4	5	9			TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	b330d9da-504a-4dfe-b696-ceebe0369ede	g.chr4:83376002C>A	ENST00000273920.3	+	4	785	c.517C>A	c.(517-519)Ctt>Att	p.L173I	ENOPH1_ENST00000509635.1_Missense_Mutation_p.L85I	NM_021204.3	NP_067027.1			enolase-phosphatase 1											central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(3)|skin(1)	13						GGGAGATATTCTTGAGGTAGG	0.398																																						ENST00000273920.3																			0				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(3)|skin(1)	13						c.(517-519)Ctt>Att		enolase-phosphatase 1							225	204	211					4																	83376002		2203	4300	6503	SO:0001583	missense	58478				L-methionine salvage from methylthioadenosine	cytoplasm|nucleus	2,3-diketo-5-methylthiopentyl-1-phosphate enolase activity|2-hydroxy-3-keto-5-methylthiopentenyl-1-phosphate phosphatase activity|acireductone synthase activity|magnesium ion binding|phosphoglycolate phosphatase activity	g.chr4:83376002C>A		CCDS3594.1, CCDS75154.1	4q21.3	2013-05-29			ENSG00000145293	ENSG00000145293	3.1.3.77		24599	protein-coding gene	gene with protein product	"Enolase-phosphatase E1", "acireductone synthase"					15843022	Standard	XM_005263168		Approved	MASA, E1, mtnC	uc003hmv.3	Q9UHY7	OTTHUMG00000130295	ENST00000273920.3:c.517C>A	4.37:g.83376002C>A	ENSP00000273920:p.Leu173Ile					ENOPH1_ENST00000509635.1_Missense_Mutation_p.L85I	p.L173I	NM_021204.3	NP_067027.1	Q9UHY7	ENOPH_HUMAN			4	785	+			173						Missense_Mutation	SNP	ENST00000273920.3	37	c.517C>A	CCDS3594.1	.	.	.	.	.	.	.	.	.	.	c	14.17	2.455797	0.43634	.	.	ENSG00000145293	ENST00000273920;ENST00000456931;ENST00000509635	T;T	0.05139	3.49;3.49	5.74	5.74	0.90152	Haloacid dehalogenase-like hydrolase (1);HAD-like domain (2);2,3-diketo-5-methylthio-1-phosphopentane phosphatase (1);	0.000000	0.85682	D	0.000000	T	0.21590	0.0520	M	0.73430	2.235	0.52501	D	0.999956	P	0.51933	0.949	D	0.63381	0.914	T	0.00031	-1.2280	10	0.37606	T	0.19	-16.0731	13.1315	0.59385	0.0:0.8866:0.0:0.1134	.	173	Q9UHY7	ENOPH_HUMAN	I	173;173;85	ENSP00000273920:L173I;ENSP00000422005:L85I	ENSP00000273920:L173I	L	+	1	0	ENOPH1	83595026	1.000000	0.71417	1.000000	0.80357	0.083000	0.17756	2.899000	0.48679	2.881000	0.98747	0.650000	0.86243	CTT		0.398	ENOPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252638.2	NM_021204		4	176	1	0	0.150653	0.150653	0.15984	4	176					A	83376002	C	A	83376002	3	1	96	1	0	0	0	0	1	0	0	0	5124	913	32	5	531	5	ENOPH1	4	83376002	Missense_Mutation	SNP	C	TCGA-EJ-7784-01A-11D-2114-08	79176471	83376002	107778274	26	5401											
METTL14	57721	broad.mit.edu	37	chr4	119631282	119631282	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgagagacttcgaccaaaatCgcctcctcccaaatctaaat	14	9	5	13	2	1	2	0	1	1	1	5	4	3	2	4	0	0	0	4	0	5	2			TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	b330d9da-504a-4dfe-b696-ceebe0369ede	g.chr4:119631282C>T	ENST00000388822.5	+	11	1363	c.1196C>T	c.(1195-1197)tCg>tTg	p.S399L	METTL14_ENST00000506780.1_Missense_Mutation_p.S361L			Q9HCE5	MET14_HUMAN	methyltransferase like 14	399					mRNA destabilization (GO:0061157)|mRNA methylation (GO:0080009)|stem cell maintenance (GO:0019827)	MIS complex (GO:0036396)|nucleus (GO:0005634)	mRNA (2'-O-methyladenosine-N6-)-methyltransferase activity (GO:0016422)|RNA binding (GO:0003723)			endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|stomach(1)	16						CGACCAAAATCGCCTCCTCCC	0.458																																						ENST00000388822.4																			0				endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|stomach(1)	16						c.(1195-1197)tCg>tTg		methyltransferase like 14							70	72	71					4																	119631282		2203	4300	6503	SO:0001583	missense	57721					nucleus	mRNA (2'-O-methyladenosine-N6-)-methyltransferase activity	g.chr4:119631282C>T	AB046847	CCDS34053.1	4q26	2009-02-24			ENSG00000145388	ENSG00000145388			29330	protein-coding gene	gene with protein product						10997877	Standard	NM_020961		Approved	KIAA1627	uc003icf.3	Q9HCE5	OTTHUMG00000161167	ENST00000388822.5:c.1196C>T	4.37:g.119631282C>T	ENSP00000373474:p.Ser399Leu					METTL14_ENST00000506780.1_Missense_Mutation_p.S361L	p.S399L			Q9HCE5	MTL14_HUMAN			11	1363	+			399					A6NIG1|Q969V2	Missense_Mutation	SNP	ENST00000388822.5	37	c.1196C>T	CCDS34053.1	.	.	.	.	.	.	.	.	.	.	C	24.4	4.529283	0.85706	.	.	ENSG00000145388	ENST00000388822;ENST00000506780	.	.	.	5.62	5.62	0.85841	.	0.059847	0.64402	D	0.000001	T	0.73297	0.3569	M	0.91612	3.225	0.80722	D	1	P;B	0.35844	0.524;0.382	B;B	0.25140	0.058;0.058	T	0.79502	-0.1777	9	0.87932	D	0	-8.3468	19.69	0.95996	0.0:1.0:0.0:0.0	.	361;399	D6RBL4;Q9HCE5	.;MTL14_HUMAN	L	399;361	.	ENSP00000373474:S399L	S	+	2	0	METTL14	119850730	1.000000	0.71417	0.923000	0.36655	0.988000	0.76386	7.476000	0.81055	2.648000	0.89879	0.650000	0.86243	TCG		0.458	METTL14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364034.3	NM_020961		28	48	0	0	0	0.740014	0	28	48					T	119631282	C	T	119631282	3	4	96	1	0	0	0	0	1	0	0	0	9498	893	31	2	1238	2	METTL14	4	119631282	Missense_Mutation	SNP	C	TCGA-EJ-7784-01A-11D-2114-08	36255280	119631282	71522994	27	5402											
XRCC4	7518	broad.mit.edu	37	chr5	82499425	82499425	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gagactgatctttataagcgGtttattctggtgttgaatga	10	16	11	4	1	2	4	0	3	2	1	2	5	2	4	0	2	1	2	0	2	4	7			TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	b330d9da-504a-4dfe-b696-ceebe0369ede	g.chr5:82499425G>T	ENST00000511817.1	+	5	617	c.537G>T	c.(535-537)cgG>cgT	p.R179R	XRCC4_ENST00000282268.3_Silent_p.R179R|XRCC4_ENST00000509268.1_3'UTR|XRCC4_ENST00000396027.4_Silent_p.R179R|XRCC4_ENST00000338635.6_Silent_p.R179R			Q13426	XRCC4_HUMAN	X-ray repair complementing defective repair in Chinese hamster cells 4	179					cellular response to lithium ion (GO:0071285)|central nervous system development (GO:0007417)|DNA ligation involved in DNA repair (GO:0051103)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|establishment of integrated proviral latency (GO:0075713)|immunoglobulin V(D)J recombination (GO:0033152)|in utero embryonic development (GO:0001701)|isotype switching (GO:0045190)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of ligase activity (GO:0051351)|positive regulation of neurogenesis (GO:0050769)|pro-B cell differentiation (GO:0002328)|response to gamma radiation (GO:0010332)|response to X-ray (GO:0010165)|T cell differentiation in thymus (GO:0033077)|viral process (GO:0016032)	cell junction (GO:0030054)|centrosome (GO:0005813)|cytosol (GO:0005829)|DNA ligase IV complex (GO:0032807)|DNA-dependent protein kinase-DNA ligase 4 complex (GO:0005958)|nonhomologous end joining complex (GO:0070419)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein C-terminus binding (GO:0008022)			endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|prostate(2)|skin(3)	17		Lung NSC(167;0.00132)|all_lung(232;0.00154)|Ovarian(174;0.034)		OV - Ovarian serous cystadenocarcinoma(54;1.44e-38)|Epithelial(54;3.72e-33)|all cancers(79;9.22e-28)		TTTATAAGCGGTTTATTCTGG	0.313								Non-homologous end-joining																														ENST00000282268.3																			0				endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|prostate(2)|skin(3)	17						c.(535-537)cgG>cgT	Non-homologous end-joining	X-ray repair complementing defective repair in Chinese hamster cells 4							90	98	95					5																	82499425		2203	4300	6503	SO:0001819	synonymous_variant	7518				DNA ligation involved in DNA repair|double-strand break repair via nonhomologous end joining|initiation of viral infection|positive regulation of ligase activity|provirus integration|response to X-ray	cytosol|DNA ligase IV complex|DNA-dependent protein kinase-DNA ligase 4 complex|nucleoplasm	DNA binding|protein C-terminus binding	g.chr5:82499425G>T	AB017445	CCDS4058.1, CCDS4059.1	5q14.2	2008-02-05			ENSG00000152422	ENSG00000152422			12831	protein-coding gene	gene with protein product	"X-ray repair, complementing defective, repair in Chinese hamster", "DNA repair protein XRCC4"	194363				1697445, 7665175	Standard	NM_022406		Approved		uc003kib.3	Q13426	OTTHUMG00000131319	ENST00000511817.1:c.537G>T	5.37:g.82499425G>T						XRCC4_ENST00000511817.1_Silent_p.R179R|XRCC4_ENST00000338635.6_Silent_p.R179R|XRCC4_ENST00000509268.1_3'UTR|XRCC4_ENST00000396027.4_Silent_p.R179R	p.R179R	NM_003401.3|NM_022406.2|NM_022550.2	NP_003392.1|NP_071801.1|NP_072044.1	Q13426	XRCC4_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;1.44e-38)|Epithelial(54;3.72e-33)|all cancers(79;9.22e-28)	5	712	+		Lung NSC(167;0.00132)|all_lung(232;0.00154)|Ovarian(174;0.034)	179					A8K3X4|Q9BS72|Q9UP94	Silent	SNP	ENST00000511817.1	37	c.537G>T	CCDS4059.1																																																																																				0.313	XRCC4-003	NOVEL	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000369624.1	NM_022550		10	83	1	0	4.68919e-08	0.361761	5.29817e-08	10	83					T	82499425	G	T	82499425	2	4	96	1	0	0	0	0	0	0	0	1	17452	1248	44	5		5	XRCC4	5	82499425	Silent	SNP	G	TCGA-EJ-7784-01A-11D-2114-08		82499425	98415835	28	5403											
ANKHD1	54882	broad.mit.edu	37	chr5	139887388	139887388	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aggactgggagtaaactaggTatttctcccctgatgttggc	9	12	12	8	0	1	1	0	1	1	0	2	3	1	3	2	4	1	3	2	4	4	5			TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	b330d9da-504a-4dfe-b696-ceebe0369ede	g.chr5:139887388T>A	ENST00000360839.2	+	20	3724	c.3570T>A	c.(3568-3570)ggT>ggA	p.G1190G	ANKHD1-EIF4EBP3_ENST00000532219.1_Silent_p.G1190G|ANKHD1_ENST00000297183.6_Silent_p.G1190G	NM_017747.2	NP_060217.1	Q8IWZ3	ANKH1_HUMAN	ankyrin repeat and KH domain containing 1	1190						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTAAACTAGGTATTTCTCCCC	0.368																																						ENST00000297183.6																			0				breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2)	60						c.(3568-3570)ggT>ggA		ankyrin repeat and KH domain containing 1							76	73	74					5																	139887388		2203	4300	6503	SO:0001819	synonymous_variant	54882							g.chr5:139887388T>A	AF521882	CCDS4225.1, CCDS43371.1, CCDS43372.1, CCDS75319.1	5q31.3	2013-01-10			ENSG00000131503	ENSG00000131503		"Ankyrin repeat domain containing"	24714	protein-coding gene	gene with protein product		610500				10470851, 11230166, 16098192	Standard	NM_017747		Approved	MASK, FLJ20288, FLJ11979, FLJ10042, FLJ14127, KIAA1085		Q8IWZ3	OTTHUMG00000161610	ENST00000360839.2:c.3570T>A	5.37:g.139887388T>A						ANKHD1_ENST00000360839.2_Silent_p.G1190G|ANKHD1-EIF4EBP3_ENST00000532219.1_Silent_p.G1190G	p.G1190G	NM_020690.5	NP_065741.3			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		20	3694	+								A6NH85|Q149P2|Q8IWZ2|Q8WY90|Q96G77|Q96GK0|Q9H2U0|Q9HA95|Q9NWG4|Q9UPR7	Silent	SNP	ENST00000360839.2	37	c.3570T>A	CCDS4225.1	.	.	.	.	.	.	.	.	.	.	T	9.567	1.120000	0.20877	.	.	ENSG00000131503	ENST00000246149	.	.	.	5.68	2.23	0.28157	.	.	.	.	.	T	0.43233	0.1238	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.24261	-1.0165	4	.	.	.	.	1.5537	0.02580	0.1354:0.1497:0.273:0.4419	.	.	.	.	E	416	.	.	V	+	2	0	ANKHD1	139867572	0.976000	0.34144	1.000000	0.80357	0.998000	0.95712	0.146000	0.16180	0.158000	0.19367	0.524000	0.50904	GTA		0.368	ANKHD1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000251672.1	NM_017747		6	111	0	0	0	0.27861	0	6	111					A	139887388	T	A	139887388	2	1	96	1	0	0	0	0	0	0	0	1	628	1625	57	5		5	ANKHD1	5	139887388	Silent	SNP	T	TCGA-EJ-7784-01A-11D-2114-08	57387963	139887388	41027872	29	5404											
ATP10B	23120	broad.mit.edu	37	chr5	159992485	159992485	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tggtcagtgaactctgggatCggcgatggctgctcctcttt	5	13	13	10	2	3	1	1	1	2	0	5	3	4	2	1	4	2	2	1	4	1	1	rs534112987		TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	b330d9da-504a-4dfe-b696-ceebe0369ede	g.chr5:159992485C>T	ENST00000327245.5	-	26	5207	c.4361G>A	c.(4360-4362)cGa>cAa	p.R1454Q		NM_025153.2	NP_079429.2	O94823	AT10B_HUMAN	ATPase, class V, type 10B	1454					phospholipid translocation (GO:0045332)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			ACTCTGGGATCGGCGATGGCT	0.532													C|||	1	0.000199681	0	0	5008	,	,		19769	0.001		0	False		,,,				2504	0					ENST00000327245.5																			0				NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75						c.(4360-4362)cGa>cAa		ATPase, class V, type 10B							132	126	128					5																	159992485		2026	4198	6224	SO:0001583	missense	23120				ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr5:159992485C>T	AB018258	CCDS43394.1	5q34	2010-04-20	2007-09-19		ENSG00000118322	ENSG00000118322		"ATPases / P-type"	13543	protein-coding gene	gene with protein product			"ATPase, Class V, type 10B"			9872452, 11015572	Standard	NM_025153		Approved	ATPVB, KIAA0715, FLJ21477	uc003lym.1	O94823	OTTHUMG00000163551	ENST00000327245.5:c.4361G>A	5.37:g.159992485C>T	ENSP00000313600:p.Arg1454Gln						p.R1454Q	NM_025153.2	NP_079429.2	O94823	AT10B_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		26	5207	-	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	1454					Q9H725	Missense_Mutation	SNP	ENST00000327245.5	37	c.4361G>A	CCDS43394.1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.285426	0.80803	.	.	ENSG00000118322	ENST00000327245	T	0.49432	0.78	5.46	5.46	0.80206	.	0.000000	0.50627	D	0.000102	T	0.65176	0.2666	M	0.62723	1.935	0.31934	N	0.611763	D	0.89917	1.0	D	0.76575	0.988	T	0.70081	-0.4970	9	.	.	.	.	14.7921	0.69851	0.0:1.0:0.0:0.0	.	1454	O94823	AT10B_HUMAN	Q	1454	ENSP00000313600:R1454Q	.	R	-	2	0	ATP10B	159925063	0.995000	0.38212	0.998000	0.56505	0.992000	0.81027	4.086000	0.57664	2.559000	0.86315	0.563000	0.77884	CGA		0.532	ATP10B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374127.1	NM_025153		4	165	0	0	0	0.184627	0	4	165					T	159992485	C	T	159992485	3	4	96	1	0	0	0	0	1	0	0	0	1117	884	31	2	28	2	ATP10B	5	159992485	Missense_Mutation	SNP	C	TCGA-EJ-7784-01A-11D-2114-08	20105097	159992485	20922775	30	5405											
MYLK4	340156	broad.mit.edu	37	chr6	2689172	2689172	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tacgatgatcaaatggggccGgaggagccgggatgtcaact	11	7	15	8	3	2	1	2	1	0	0	2	5	2	4	2	5	3	0	2	5	3	1			TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	53036395-5404-42c1-8e8b-8991d627f33f	g.chr6:2689172G>A	ENST00000274643.7	-	4	596	c.254C>T	c.(253-255)cCg>cTg	p.P85L	MYLK4_ENST00000268446.5_Missense_Mutation_p.P85L	NM_001012418.3	NP_001012418.2	Q86YV6	MYLK4_HUMAN	myosin light chain kinase family, member 4	85						extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(10)|ovary(2)|skin(1)	23	Ovarian(93;0.0412)	all_hematologic(90;0.0897)				AAATGGGGCCGGAGGAGCCGG	0.502																																						ENST00000274643.7																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(10)|ovary(2)|skin(1)	23						c.(253-255)cCg>cTg		myosin light chain kinase family, member 4							119	128	125					6																	2689172		2203	4300	6503	SO:0001583	missense	340156						ATP binding|protein serine/threonine kinase activity	g.chr6:2689172G>A		CCDS34330.1	6p25.2	2008-01-23			ENSG00000145949	ENSG00000145949			27972	protein-coding gene	gene with protein product	"caMLCK like"						Standard	NM_001012418		Approved	SgK085	uc003mty.4	Q86YV6	OTTHUMG00000014121	ENST00000274643.7:c.254C>T	6.37:g.2689172G>A	ENSP00000274643:p.Pro85Leu					MYLK4_ENST00000268446.5_Missense_Mutation_p.P85L	p.P85L	NM_001012418.3	NP_001012418.2	Q86YV6	MYLK4_HUMAN			4	596	-	Ovarian(93;0.0412)	all_hematologic(90;0.0897)	85					A2RUC0|Q5TAW2	Missense_Mutation	SNP	ENST00000274643.7	37	c.254C>T	CCDS34330.1	.	.	.	.	.	.	.	.	.	.	G	13.44	2.239084	0.39598	.	.	ENSG00000145949	ENST00000268446;ENST00000274643	T;T	0.68181	0.01;-0.31	5.23	5.23	0.72850	.	0.318740	0.22054	N	0.065265	T	0.52141	0.1716	L	0.52011	1.625	0.47819	D	0.999527	B	0.27679	0.185	B	0.20577	0.03	T	0.58335	-0.7654	10	0.87932	D	0	.	18.1489	0.89668	0.0:0.0:1.0:0.0	.	85	Q86YV6	MYLK4_HUMAN	L	85	ENSP00000268446:P85L;ENSP00000274643:P85L	ENSP00000268446:P85L	P	-	2	0	MYLK4	2634171	0.998000	0.40836	0.995000	0.50966	0.141000	0.21300	6.631000	0.74277	2.610000	0.88304	0.655000	0.94253	CCG		0.502	MYLK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039632.2	NM_001012418		4	148	0	0	0	0.184627	0	4	148					A	2689172	G	A	2689172	3	1	96	1	0	0	0	0	1	0	0	0	10059	1116	39	2	948	2	MYLK4	6	2689172	Missense_Mutation	SNP	G	TCGA-EJ-7784-01A-11D-2114-08		2689172	168425895	31	5406											
C6orf62	81688	broad.mit.edu	37	chr6	24714586	24714586	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	catcagattctttccacctaGaaaacaggagacagacgatt	15	9	7	10	1	2	4	1	0	1	4	3	6	3	4	2	1	1	0	2	1	3	4			TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	b330d9da-504a-4dfe-b696-ceebe0369ede	g.chr6:24714586G>C	ENST00000378119.4	-	3	2556	c.389C>G	c.(388-390)tCt>tGt	p.S130C	C6orf62_ENST00000540769.1_Missense_Mutation_p.S72C|C6orf62_ENST00000378102.3_Missense_Mutation_p.S101C	NM_030939.4	NP_112201.1	Q9GZU0	CF062_HUMAN	chromosome 6 open reading frame 62	130						intracellular (GO:0005622)				endometrium(2)|kidney(3)|large_intestine(2)|lung(3)	10						TTTCCACCTAGAAAACAGGAG	0.343																																						ENST00000378119.4																			0				endometrium(2)|kidney(3)|large_intestine(2)|lung(3)	10						c.(388-390)tCt>tGt		chromosome 6 open reading frame 62							77	79	78					6																	24714586		2203	4300	6503	SO:0001583	missense	81688					intracellular		g.chr6:24714586G>C	AL136632	CCDS4559.1	6p22.1	2011-12-13			ENSG00000112308	ENSG00000112308			20998	protein-coding gene	gene with protein product	"HBV X-transactivated protein 12"					11230166	Standard	NM_030939		Approved	FLJ12619, DKFZP564G182, XTP12	uc003nel.3	Q9GZU0	OTTHUMG00000014361	ENST00000378119.4:c.389C>G	6.37:g.24714586G>C	ENSP00000367359:p.Ser130Cys					C6orf62_ENST00000378102.3_Missense_Mutation_p.S101C|C6orf62_ENST00000540769.1_Missense_Mutation_p.S72C	p.S130C	NM_030939.4	NP_112201.1	Q9GZU0	CF062_HUMAN			3	2556	-			130					Q3LIB6|Q5JVZ2|Q5JVZ3|Q6IA63|Q9H1Z2	Missense_Mutation	SNP	ENST00000378119.4	37	c.389C>G	CCDS4559.1	.	.	.	.	.	.	.	.	.	.	G	33	5.205256	0.95033	.	.	ENSG00000112308	ENST00000378119;ENST00000540769;ENST00000378102	T;T;T	0.39787	1.06;1.06;1.06	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	T	0.45418	0.1341	N	0.19112	0.55	0.80722	D	1	D	0.76494	0.999	D	0.76071	0.987	T	0.51973	-0.8637	10	0.87932	D	0	-15.0205	20.0529	0.97634	0.0:0.0:1.0:0.0	.	130	Q9GZU0	CF062_HUMAN	C	130;72;101	ENSP00000367359:S130C;ENSP00000446225:S72C;ENSP00000367342:S101C	ENSP00000367342:S101C	S	-	2	0	C6orf62	24822565	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.767000	0.98960	2.814000	0.96858	0.591000	0.81541	TCT		0.343	C6orf62-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040017.1	NM_030939		15	81	0	0	0	0.539581	0	15	81					C	24714586	G	C	24714586	3	2	96	1	0	0	0	0	1	0	0	0	2368	942	33	5	312	5	C6orf62	6	24714586	Missense_Mutation	SNP	G	TCGA-EJ-7784-01A-11D-2114-08	22025414	24714586	146400481	32	5407											
PACSIN1	29993	broad.mit.edu	37	chr6	34498308	34498308	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aagaaggcagagggagtggcGctgaccaatgccactggggc	11	4	17	9	1	0	3	0	1	0	2	0	4	0	4	2	5	1	2	2	5	3	0			TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	b330d9da-504a-4dfe-b696-ceebe0369ede	g.chr6:34498308G>A	ENST00000538621.1	+	8	1226	c.981G>A	c.(979-981)gcG>gcA	p.A327A	PACSIN1_ENST00000374043.2_Silent_p.A285A|PACSIN1_ENST00000244458.2_Silent_p.A327A	NM_001199583.2	NP_001186512.1	Q9BY11	PACN1_HUMAN	protein kinase C and casein kinase substrate in neurons 1	327					actin filament organization (GO:0007015)|establishment of protein localization to plasma membrane (GO:0090002)|membrane tubulation (GO:0097320)|neuron projection morphogenesis (GO:0048812)|positive regulation of dendrite development (GO:1900006)|protein localization to membrane (GO:0072657)|synaptic vesicle endocytosis (GO:0048488)	axon terminus (GO:0043679)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|synapse (GO:0045202)	phospholipid binding (GO:0005543)			endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)	13						AGGGAGTGGCGCTGACCAATG	0.637																																						ENST00000538621.1																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)	13						c.(979-981)gcG>gcA		protein kinase C and casein kinase substrate in neurons 1							100	80	87					6																	34498308		2203	4300	6503	SO:0001819	synonymous_variant	0				endocytosis		protein kinase activity	g.chr6:34498308G>A	AB037800	CCDS4793.1	6p21.3	2008-02-05			ENSG00000124507	ENSG00000124507			8570	protein-coding gene	gene with protein product	"syndapin I"	606512				11179684	Standard	NM_020804		Approved	SDPI	uc003ojp.4	Q9BY11	OTTHUMG00000014547	ENST00000538621.1:c.981G>A	6.37:g.34498308G>A						PACSIN1_ENST00000244458.2_Silent_p.A327A|PACSIN1_ENST00000374043.2_Silent_p.A285A	p.A327A	NM_001199583.1	NP_001186512.1	Q9BY11	PACN1_HUMAN			8	1226	+			327					Q9P2G8	Silent	SNP	ENST00000538621.1	37	c.981G>A	CCDS4793.1																																																																																				0.637	PACSIN1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040236.1			3	25	0	0	0	0.115264	0	3	25					A	34498308	G	A	34498308	2	1	96	1	0	0	0	0	0	0	0	1	11374	1074	38	1		1	PACSIN1	6	34498308	Silent	SNP	G	TCGA-EJ-7784-01A-11D-2114-08	9783722	34498308	136616759	33	5408											
DNAH8	1769	broad.mit.edu	37	chr6	38875871	38875872	+	Frame_Shift_Ins	INS	-	-	A																															tcaagatcaaggaagaacttINSacatgttgttctctgctttt																										TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	b330d9da-504a-4dfe-b696-ceebe0369ede	g.chr6:38875871_38875872insA	ENST00000359357.3	+	62	9091_9092	c.8837_8838insA	c.(8836-8841)ttacatfs	p.H2947fs	DNAH8_ENST00000449981.2_Frame_Shift_Ins_p.H3164fs|DNAH8_ENST00000441566.1_Frame_Shift_Ins_p.H2911fs			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	2947	AAA 4. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						AGGAAGAACTTACATGTTGTTC	0.356																																						ENST00000359357.3																			0				NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						c.(8836-8838)tcafs		dynein, axonemal, heavy chain 8																																				SO:0001589	frameshift_variant	1769							g.chr6:38875871_38875872insA	Z83806	CCDS75447.1	6p21.2	2012-04-19	2006-09-04		ENSG00000124721	ENSG00000124721		"Axonemal dyneins"	2952	protein-coding gene	gene with protein product		603337	"dynein, axonemal, heavy polypeptide 8"			9373155	Standard	NM_001206927		Approved	hdhc9	uc021yzh.1	Q96JB1	OTTHUMG00000016253	ENST00000359357.3:c.8838dupA	6.37:g.38875872_38875872dupA	ENSP00000352312:p.His2947fs					DNAH8_ENST00000441566.1_Frame_Shift_Ins_p.S2910fs|DNAH8_ENST00000449981.2_Frame_Shift_Ins_p.S3163fs	p.S2946fs							62	9091_9092	+								O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Frame_Shift_Ins	INS	ENST00000359357.3	37	c.8837_8838insA																																																																																					0.356	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000043574.1	NM_001206927		7	39						7	39	---	---	---	---	A	38875872	-	A	38875871	7	5	96	1	0	1	1	0	0	0	0	0	4607	1764	61	0	9075	0	DNAH8	6	38875871	Frame_Shift_Ins	INS	-	TCGA-EJ-7784-01A-11D-2114-08	4377563	38875871	132239196	34	5409											
ZNF292	23036	broad.mit.edu	37	chr6	87966666	87966666	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gccaggtcgagggatgtactCgaacctataattcttcacag	11	10	10	10	2	2	0	1	0	1	0	4	3	2	1	2	2	2	1	2	2	4	5			TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	b330d9da-504a-4dfe-b696-ceebe0369ede	g.chr6:87966666C>T	ENST00000369577.3	+	8	3362	c.3319C>T	c.(3319-3321)Cga>Tga	p.R1107*	ZNF292_ENST00000339907.4_Nonsense_Mutation_p.R1102*	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN	zinc finger protein 292	1107						nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		GGGATGTACTCGAACCTATAA	0.443																																						ENST00000369577.3																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89						c.(3319-3321)Cga>Tga		zinc finger protein 292							57	53	54					6																	87966666		1870	4103	5973	SO:0001587	stop_gained	23036				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:87966666C>T	AB011102	CCDS47457.1	6q15	2008-10-23			ENSG00000188994	ENSG00000188994		"Zinc fingers, C2H2-type"	18410	protein-coding gene	gene with protein product						9628581	Standard	NM_015021		Approved	KIAA0530, ZFP292, bA393I2.3, Zn-15, Zn-16	uc003plm.4	O60281	OTTHUMG00000015164	ENST00000369577.3:c.3319C>T	6.37:g.87966666C>T	ENSP00000358590:p.Arg1107*					ZNF292_ENST00000339907.4_Nonsense_Mutation_p.R1102*	p.R1107*	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0199)	8	3362	+		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)	1107					Q5W0B2|Q7Z3L7|Q9H8G3|Q9H8J4	Nonsense_Mutation	SNP	ENST00000369577.3	37	c.3319C>T	CCDS47457.1	.	.	.	.	.	.	.	.	.	.	C	40	8.178519	0.98691	.	.	ENSG00000188994	ENST00000369577;ENST00000339907	.	.	.	5.55	4.67	0.58626	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.4314	0.61057	0.2857:0.7143:0.0:0.0	.	.	.	.	X	1107;1102	.	ENSP00000342847:R1102X	R	+	1	2	ZNF292	88023385	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.097000	0.50251	1.321000	0.45227	0.591000	0.81541	CGA		0.443	ZNF292-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000376192.2	NM_015021		5	47	0	0	0	0.184627	0	5	47					T	87966666	C	T	87966666	4	4	96	1	0	0	0	0	0	1	0	0	17823	876	31	2	3349	2	ZNF292	6	87966666	Nonsense_Mutation	SNP	C	TCGA-EJ-7784-01A-11D-2114-08	49090795	87966666	83148401	35	5410											
MARCKS	4082	broad.mit.edu	37	chr6	114181209	114181210	+	Frame_Shift_Ins	INS	-	-	A																															cgcccagcaacgagaccccgINSaaaaaaaaaaagaagcgctt																										TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	b330d9da-504a-4dfe-b696-ceebe0369ede	g.chr6:114181209_114181210insA	ENST00000368635.4	+	2	834_835	c.453_454insA	c.(454-456)aaafs	p.K152fs		NM_002356.5	NP_002347.5	P29966	MARCS_HUMAN	myristoylated alanine-rich protein kinase C substrate	152	Calmodulin-binding (PSD).				energy reserve metabolic process (GO:0006112)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)	actin cytoskeleton (GO:0015629)|cell cortex (GO:0005938)|centrosome (GO:0005813)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|germinal vesicle (GO:0042585)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)|calmodulin binding (GO:0005516)	p.K155fs*12(1)		breast(1)|kidney(1)|large_intestine(1)|lung(1)	4		all_cancers(87;7.65e-05)|all_epithelial(87;0.000296)|all_hematologic(75;0.0172)|Colorectal(196;0.0317)|all_lung(197;0.198)		Epithelial(106;1.59e-07)|all cancers(137;9.85e-07)|OV - Ovarian serous cystadenocarcinoma(136;0.000322)		ACGAGACCCCGAAAAAAAAAAA	0.614																																						ENST00000368635.4																			1	Deletion - Frameshift(1)	p.K155fs*12(1)	large_intestine(1)	breast(1)|kidney(1)|large_intestine(1)|lung(1)	4						c.(451-456)ccaaaafs		myristoylated alanine-rich protein kinase C substrate																																				SO:0001589	frameshift_variant	4082				energy reserve metabolic process|regulation of insulin secretion	actin cytoskeleton|plasma membrane	actin filament binding|calmodulin binding	g.chr6:114181209_114181210insA	M68956	CCDS5101.1	6q21	2014-04-10	2001-12-17	2001-12-20	ENSG00000155130	ENSG00000277443			6759	protein-coding gene	gene with protein product		177061	"myristoylated alanine-rich protein kinase C substrate (MARCKS, 80K-L)"	MACS		1560845, 8420923	Standard	NM_002356		Approved	PKCSL, 80K-L	uc003pvy.4	P29966	OTTHUMG00000188327	ENST00000368635.4:c.464dupA	6.37:g.114181220_114181220dupA	ENSP00000357624:p.Lys152fs						p.PK151fs	NM_002356.5	NP_002347.5	P29966	MARCS_HUMAN		Epithelial(106;1.59e-07)|all cancers(137;9.85e-07)|OV - Ovarian serous cystadenocarcinoma(136;0.000322)	2	834_835	+		all_cancers(87;7.65e-05)|all_epithelial(87;0.000296)|all_hematologic(75;0.0172)|Colorectal(196;0.0317)|all_lung(197;0.198)	151					E1P560|Q2LA83|Q5TDB7	Frame_Shift_Ins	INS	ENST00000368635.4	37	c.453_454insA	CCDS5101.1																																																																																				0.614	MARCKS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041903.1	NM_002356		8	22						8	22	---	---	---	---	A	114181210	-	A	114181209	7	5	96	1	0	1	1	0	0	0	0	0	9309	1045	37	0	459	0	MARCKS	6	114181209	Frame_Shift_Ins	INS	-	TCGA-EJ-7784-01A-11D-2114-08	26214543	114181209	56933858	36	5411											
ACTL6B	51412	broad.mit.edu	37	chr7	100246363	100246363	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aagccccaccttgctgcagaAcgtagccgtcatgtactgga	10	8	10	13	2	1	1	1	0	0	1	1	2	1	2	4	1	6	4	4	1	4	3			TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	b330d9da-504a-4dfe-b696-ceebe0369ede	g.chr7:100246363A>T	ENST00000160382.5	-	6	657	c.551T>A	c.(550-552)gTt>gAt	p.V184D		NM_016188.4	NP_057272.1	O94805	ACL6B_HUMAN	actin-like 6B	184					chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|nervous system development (GO:0007399)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	structural constituent of cytoskeleton (GO:0005200)|transcription coactivator activity (GO:0003713)			endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|skin(1)	13	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)					TTGCTGCAGAACGTAGCCGTC	0.627																																						ENST00000160382.5																			0				endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|skin(1)	13						c.(550-552)gTt>gAt		actin-like 6B							71	66	68					7																	100246363		2203	4300	6503	SO:0001583	missense	51412				chromatin modification|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nBAF complex|SWI/SNF complex	ATP binding|protein binding|structural constituent of cytoskeleton	g.chr7:100246363A>T	AB015906	CCDS5702.1	7q22	2008-02-01	2004-07-12	2004-07-14	ENSG00000077080	ENSG00000077080			160	protein-coding gene	gene with protein product		612458	"actin-like 6"	ACTL6		9799793	Standard	NM_016188		Approved	BAF53B	uc003uvy.3	O94805	OTTHUMG00000159661	ENST00000160382.5:c.551T>A	7.37:g.100246363A>T	ENSP00000160382:p.Val184Asp						p.V184D	NM_016188.4	NP_057272.1	O94805	ACL6B_HUMAN			6	657	-	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)		184					A4D2D0|O75421	Missense_Mutation	SNP	ENST00000160382.5	37	c.551T>A	CCDS5702.1	.	.	.	.	.	.	.	.	.	.	A	22.9	4.346432	0.82022	.	.	ENSG00000077080	ENST00000160382	D	0.95069	-3.6	5.12	5.12	0.69794	.	0.080947	0.48286	D	0.000192	D	0.97523	0.9189	M	0.91140	3.18	0.80722	D	1	D	0.71674	0.998	D	0.72982	0.979	D	0.98266	1.0501	10	0.87932	D	0	.	12.9182	0.58216	1.0:0.0:0.0:0.0	.	184	O94805	ACL6B_HUMAN	D	184	ENSP00000160382:V184D	ENSP00000160382:V184D	V	-	2	0	ACTL6B	100084299	1.000000	0.71417	1.000000	0.80357	0.667000	0.39255	7.083000	0.76859	2.148000	0.66965	0.528000	0.53228	GTT		0.627	ACTL6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356745.1	NM_016188		5	86	0	0	0	0.248553	0	5	86					T	100246363	A	T	100246363	3	4	96	1	0	0	0	0	1	0	0	0	199	43	2	5	765	5	ACTL6B	7	100246363	Missense_Mutation	SNP	A	TCGA-EJ-7784-01A-11D-2114-08		100246363	58892300	37	5412											
ZAN	7455	broad.mit.edu	37	chr7	100350487	100350487	+	RNA	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	caccatctccacggaaaaacCcaccatccccacggaaaaac	16	3	4	18	2	1	0	0	0	1	0	3	2	2	2	6	2	2	0	6	2	4	0			TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	b330d9da-504a-4dfe-b696-ceebe0369ede	g.chr7:100350487C>T	ENST00000348028.3	+	0	2924				ZAN_ENST00000427578.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000542585.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000538115.1_RNA			Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida (GO:0007339)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			ACGGAAAAACCCACCATCCCC	0.502																																						ENST00000542585.1																			0				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139								zonadhesin (gene/pseudogene)							341	393	377					7																	100350487		1864	4100	5964			7455				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane		g.chr7:100350487C>T	U83191		7q22.1	2013-10-10	2013-10-10		ENSG00000146839	ENSG00000146839			12857	protein-coding gene	gene with protein product		602372	"zonadhesin"			9799793, 17033959	Standard	NM_003386		Approved		uc003uwk.3	Q9Y493	OTTHUMG00000157037		7.37:g.100350487C>T						ZAN_ENST00000427578.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000421100.1_RNA		NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	STAD - Stomach adenocarcinoma(171;0.19)		0	2907	+	Lung NSC(181;0.041)|all_lung(186;0.0581)							A0FKC8|D6W5W4|O00218|Q96L85|Q96L86|Q96L87|Q96L88|Q96L89|Q96L90|Q9BXN9|Q9BZ83|Q9BZ84|Q9BZ85|Q9BZ86|Q9BZ87|Q9BZ88	RNA	SNP	ENST00000348028.3	37			.	.	.	.	.	.	.	.	.	.	C	13.49	2.252616	0.39797	.	.	ENSG00000146839	ENST00000546292;ENST00000538115;ENST00000542585	T;T;T	0.63096	-0.02;-0.02;-0.02	3.25	1.22	0.21188	.	.	.	.	.	T	0.55353	0.1915	L	0.36672	1.1	0.22240	N	0.999267	B;P	0.37612	0.42;0.602	B;B	0.44108	0.312;0.441	T	0.50250	-0.8850	9	0.87932	D	0	.	7.3702	0.26798	0.1906:0.6243:0.1851:0.0	.	920;920	F5H0T8;Q9Y493	.;ZAN_HUMAN	L	920	ENSP00000445943:P920L;ENSP00000445091:P920L;ENSP00000444427:P920L	ENSP00000423579:P920L	P	+	2	0	ZAN	100188423	0.000000	0.05858	0.001000	0.08648	0.008000	0.06430	0.137000	0.15995	0.129000	0.18514	0.655000	0.94253	CCC		0.502	ZAN-006	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000347214.1	NM_003386		5	129	0	0	0	0.217242	0	5	129					T	100350487	C	T	100350487	1	4	96	0	1	0	0	0	0	0	0	0	17510	623	22	3		3	ZAN	7	100350487	RNA	SNP	C	TCGA-EJ-7784-01A-11D-2114-08	104124	100350487	58788176	38	5413											
FLNC	2318	broad.mit.edu	37	chr7	128475497	128475497	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgaagatgatgaggatgcccGcaaacagacgcccaagcagc	14	4	12	11	2	0	5	0	3	0	2	0	6	0	6	2	1	4	2	2	1	3	0			TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	b330d9da-504a-4dfe-b696-ceebe0369ede	g.chr7:128475497G>A	ENST00000325888.8	+	2	731	c.470G>A	c.(469-471)cGc>cAc	p.R157H	FLNC_ENST00000346177.6_Missense_Mutation_p.R157H	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	157	Actin-binding.				cell junction assembly (GO:0034329)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|cytoskeletal protein binding (GO:0008092)			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						GAGGATGCCCGCAAACAGACG	0.582																																						ENST00000325888.8																			0				biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						c.(469-471)cGc>cAc		filamin C, gamma							81	91	88					7																	128475497		2203	4300	6503	SO:0001583	missense	2318				cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding	g.chr7:128475497G>A	AB208865	CCDS43644.1, CCDS47705.1	7q32-q35	2014-09-17	2009-07-23		ENSG00000128591	ENSG00000128591			3756	protein-coding gene	gene with protein product	"actin binding protein 280"	102565	"filamin C, gamma (actin binding protein 280)"	FLN2		7689010, 8088838	Standard	NM_001458		Approved	ABP-280, ABPL	uc003vnz.4	Q14315	OTTHUMG00000023627	ENST00000325888.8:c.470G>A	7.37:g.128475497G>A	ENSP00000327145:p.Arg157His					FLNC_ENST00000346177.6_Missense_Mutation_p.R157H	p.R157H	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN			2	731	+			157			Actin-binding.		B2ZZ88|O95303|Q07985|Q9NS12|Q9NYE5|Q9UMR8|Q9Y503	Missense_Mutation	SNP	ENST00000325888.8	37	c.470G>A	CCDS43644.1	.	.	.	.	.	.	.	.	.	.	G	24.9	4.581777	0.86748	.	.	ENSG00000128591	ENST00000325888;ENST00000346177	D;D	0.85339	-1.97;-1.97	5.84	5.84	0.93424	Calponin homology domain (2);	0.117221	0.53938	D	0.000058	T	0.79375	0.4435	N	0.16478	0.41	0.44006	D	0.996713	D;B	0.58970	0.984;0.024	P;B	0.50659	0.647;0.007	T	0.80872	-0.1188	10	0.87932	D	0	.	8.5759	0.33598	0.1622:0.0:0.8378:0.0	.	157;157	Q14315-2;Q14315	.;FLNC_HUMAN	H	157	ENSP00000327145:R157H;ENSP00000344002:R157H	ENSP00000327145:R157H	R	+	2	0	FLNC	128262733	0.996000	0.38824	1.000000	0.80357	0.884000	0.51177	2.445000	0.44899	2.768000	0.95171	0.561000	0.74099	CGC		0.582	FLNC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059948.3			4	162	0	0	0	0.150653	0	4	162					A	128475497	G	A	128475497	3	1	96	1	0	0	0	0	1	0	0	0	5935	1087	38	1	476	1	FLNC	7	128475497	Missense_Mutation	SNP	G	TCGA-EJ-7784-01A-11D-2114-08	28125010	128475497	30663166	39	5414											
SSPO	23145	broad.mit.edu	37	chr7	149489766	149489766	+	RNA	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccggagctccaacaacccccGcccctccggccgaggtcgcc	6	3	10	22	5	0	0	0	0	0	0	3	2	2	1	9	3	3	1	9	3	2	0			TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	b330d9da-504a-4dfe-b696-ceebe0369ede	g.chr7:149489766G>A	ENST00000378016.2	+	0	5822							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion (GO:0007155)	extracellular space (GO:0005615)	peptidase inhibitor activity (GO:0030414)					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			AACAACCCCCGCCCCTCCGGC	0.697																																						ENST00000378016.2																			0													SCO-spondin							20	28	25					7																	149489766		1990	4134	6124			23145				cell adhesion	extracellular space	peptidase inhibitor activity	g.chr7:149489766G>A	AK093431		7q36.1	2013-08-07	2013-08-06		ENSG00000197558	ENSG00000197558			21998	protein-coding gene	gene with protein product	"subcommissural organ spondin", "SCO protein, thrombospondin domain containing"		"SCO-spondin homolog (Bos taurus)"			8743952, 11008217	Standard	NM_198455		Approved	SCO-spondin, KIAA0543, FLJ36112	uc010lpk.3	A2VEC9	OTTHUMG00000157884		7.37:g.149489766G>A										A2VEC9	SSPO_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00625)		0	5822	+	Melanoma(164;0.165)|Ovarian(565;0.177)							Q76B61	RNA	SNP	ENST00000378016.2	37																																																																																						0.697	SSPO-202	KNOWN	basic	processed_transcript	processed_transcript				29	29	0	0	0	0.740014	0	29	29					A	149489766	G	A	149489766	1	1	96	0	1	0	0	0	0	0	0	0	15188	1087	38	1		1	SSPO	7	149489766	RNA	SNP	G	TCGA-EJ-7784-01A-11D-2114-08	21014269	149489766	9648897	40	5415											
CSMD1	64478	broad.mit.edu	37	chr8	2807750	2807753	+	Splice_Site	DEL	TACA	TACA	-																															acagaccttacacatgtactTacataaccatctagtcccca																										TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	b330d9da-504a-4dfe-b696-ceebe0369ede	g.chr8:2807750_2807753delTACA	ENST00000520002.1	-	68	10872_10873	c.10317_10318delTGTA	c.(10315-10320)tatgta>tata	p.V3440fs	CSMD1_ENST00000602723.1_Splice_Site_p.V3263fs|CSMD1_ENST00000400186.3_Splice_Site_p.V3263fs|CSMD1_ENST00000602557.1_Splice_Site_p.V3440fs|CSMD1_ENST00000542608.1_Splice_Site_p.V3262fs|CSMD1_ENST00000537824.1_Splice_Site_p.V3439fs			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	3440						integral component of membrane (GO:0016021)				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		CACATGTACTTACATAACCATCTA	0.441																																						ENST00000520002.1																			0				breast(20)|large_intestine(5)	25						c.e68+1		CUB and Sushi multiple domains 1																																				SO:0001630	splice_region_variant	64478					integral to membrane		g.chr8:2807750_2807753delTACA			8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	14026	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 24"	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.10317+1TGTA>-	8.37:g.2807750_2807753delTACA						CSMD1_ENST00000602723.1_Splice_Site_p.Y3262_splice|CSMD1_ENST00000400186.3_Splice_Site_p.Y3262_splice|CSMD1_ENST00000602557.1_Splice_Site_p.Y3439_splice|CSMD1_ENST00000542608.1_Splice_Site_p.Y3261_splice|CSMD1_ENST00000537824.1_Splice_Site_p.Y3438_splice	p.Y3439_splice			Q96PZ7	CSMD1_HUMAN		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)	68	10872_10873	-		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)	3439					Q0H0J5|Q96QU9|Q96RM4	Splice_Site	DEL	ENST00000520002.1	37	c.10317_splice																																																																																					0.441	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000374500.2	NM_033225	Frame_Shift_Del	11	151						11	151	---	---	---	---	-	2807753	TACA	-	2807750	8	5	96	1	0	1	0	1	0	0	1	0	3944	1769	61	0		0	CSMD1	8	2807750	Splice_Site	DEL	TACA	TCGA-EJ-7784-01A-11D-2114-08		2807750	143556272	41	5416											
FBXO16	157574	broad.mit.edu	37	chr8	28304698	28304698	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caatacttaccattgattgtGcttttcttagcctagttctg	8	18	6	9	0	2	1	0	1	2	0	2	1	2	1	2	0	4	2	2	0	5	9			TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	b330d9da-504a-4dfe-b696-ceebe0369ede	g.chr8:28304698G>A	ENST00000380254.2	-	7	981	c.833C>T	c.(832-834)gCa>gTa	p.A278V	FBXO16_ENST00000518734.1_Missense_Mutation_p.A266V|RP11-181B11.2_ENST00000518819.1_RNA|RP11-181B11.2_ENST00000523935.1_RNA|FBXO16_ENST00000346498.2_Missense_Mutation_p.A266V	NM_001258211.1|NM_172366.3	NP_001245140.1|NP_758954.1	Q8IX29	FBX16_HUMAN	F-box protein 16	278										large_intestine(2)|ovary(1)	3		Ovarian(32;2.06e-05)		KIRC - Kidney renal clear cell carcinoma(542;0.121)|Kidney(114;0.144)|Colorectal(74;0.249)		CATTGATTGTGCTTTTCTTAG	0.318																																						ENST00000380254.2																			0				large_intestine(2)|ovary(1)	3						c.(832-834)gCa>gTa		F-box protein 16							219	206	211					8																	28304698		2203	4300	6503	SO:0001583	missense	157574							g.chr8:28304698G>A	AF453435	CCDS6068.1, CCDS59099.1	8p21.1	2008-02-05	2004-06-15		ENSG00000214050	ENSG00000214050		"F-boxes /  "other""	13618	protein-coding gene	gene with protein product		608519	"F-box only protein 16"			12243353	Standard	NM_172366		Approved	FBX16	uc003xgu.4	Q8IX29	OTTHUMG00000102147	ENST00000380254.2:c.833C>T	8.37:g.28304698G>A	ENSP00000369604:p.Ala278Val					FBXO16_ENST00000518734.1_Missense_Mutation_p.A266V|FBXO16_ENST00000346498.2_Missense_Mutation_p.A266V	p.A278V	NM_001258211.1|NM_172366.3	NP_001245140.1|NP_758954.1	Q8IX29	FBX16_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.121)|Kidney(114;0.144)|Colorectal(74;0.249)	7	981	-		Ovarian(32;2.06e-05)	278					Q3T1B2|Q3T1B3|Q3T1B4	Missense_Mutation	SNP	ENST00000380254.2	37	c.833C>T	CCDS6068.1	.	.	.	.	.	.	.	.	.	.	G	17.72	3.459898	0.63401	.	.	ENSG00000214050	ENST00000380254;ENST00000346498;ENST00000518734	T;T;T	0.23950	2.02;1.88;2.02	4.87	4.87	0.63330	.	0.869827	0.09645	U	0.774438	T	0.39809	0.1092	M	0.74881	2.28	0.80722	D	1	P;P;D	0.55172	0.836;0.836;0.97	P;P;P	0.47134	0.453;0.453;0.539	T	0.34403	-0.9830	10	0.54805	T	0.06	-0.5027	13.8522	0.63504	0.0:0.0:1.0:0.0	.	266;266;278	Q3T1B3;Q3T1B2;Q8IX29	.;.;FBX16_HUMAN	V	278;266;266	ENSP00000369604:A278V;ENSP00000341416:A266V;ENSP00000429687:A266V	ENSP00000341416:A266V	A	-	2	0	FBXO16	28360617	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	3.415000	0.52700	2.408000	0.81797	0.591000	0.81541	GCA		0.318	FBXO16-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000219988.2	NM_172366		10	127	0	0	0	0.411799	0	10	127					A	28304698	G	A	28304698	3	1	96	1	0	0	0	0	1	0	0	0	5729	1319	46	3	57	3	FBXO16	8	28304698	Missense_Mutation	SNP	G	TCGA-EJ-7784-01A-11D-2114-08	25496948	28304698	118059324	42	5417											
POU5F1B	5462	broad.mit.edu	37	chr8	128428147	128428147	+	Frame_Shift_Del	DEL	G	G	-																															gcttcggatttcgccttctcGccccctccaggcggtggggg																										TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	b330d9da-504a-4dfe-b696-ceebe0369ede	g.chr8:128428147delG	ENST00000465342.2	+	2	1193	c.36delG	c.(34-36)tcgfs	p.S12fs	POU5F1B_ENST00000391675.1_Frame_Shift_Del_p.S12fs|CASC8_ENST00000523825.1_RNA|CASC8_ENST00000501396.1_RNA|CASC8_ENST00000502082.1_RNA			Q06416	P5F1B_HUMAN	POU class 5 homeobox 1B	12					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			lung(1)|prostate(1)|urinary_tract(1)	3						TCGCCTTCTCGCCCCCTCCAG	0.632																																						ENST00000465342.2																			0				lung(1)|prostate(1)|urinary_tract(1)	3						c.(34-36)tcfs		POU class 5 homeobox 1B							2	3	3					8																	128428147		467	1254	1721	SO:0001589	frameshift_variant	5462					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr8:128428147delG	AF268615	CCDS55274.1	8q24.21	2011-06-20	2009-04-15	2009-04-15	ENSG00000212993	ENSG00000212993		"Homeoboxes / POU class"	9223	protein-coding gene	gene with protein product		615739	"POU domain class 5, transcription factor 1 pseudogene 1", "POU class 5 homeobox 1 pseudogene 1"	OTF3P1, POU5F1P1		1408763	Standard	NM_001159542		Approved	OTF3C	uc003ysf.3	Q06416	OTTHUMG00000157807	ENST00000465342.2:c.36delG	8.37:g.128428147delG	ENSP00000419298:p.Ser12fs					CASC8_ENST00000501396.1_RNA|CASC8_ENST00000523825.1_RNA|POU5F1B_ENST00000391675.1_Frame_Shift_Del_p.S12fs|CASC8_ENST00000502082.1_RNA	p.S12fs			Q06416	P5F1B_HUMAN			2	1193	+			12					D5K9S4|D5K9S9|D5K9T0|D5K9T1|D5K9T3|D5K9U3|D5K9U6|D5K9V4|D5K9V6|D5K9W0|D5K9W2|D5K9W7|D5K9X2|D5K9X3|D5K9X5|D5K9X8|D5K9X9|E9LRB1|E9LRB2|E9LRH5|E9LRH6|E9LRH7|E9LRK4|E9LRK5|E9LRK7|E9LRK8|E9LRM7|E9LRM9|E9LRN2|E9LRN4|E9LRN5|E9LRP8|E9LRQ0|E9LRQ2|E9LRQ3|E9LRQ4|E9LRQ5|E9LRS3|Q2VIK6|Q9BZV7|Q9BZV9	Frame_Shift_Del	DEL	ENST00000465342.2	37	c.36delG	CCDS55274.1																																																																																				0.632	POU5F1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349649.2	NM_001159542		2	4						2	4	---	---	---	---	-	128428147	G	-	128428147	7	5	96	1	0	1	0	1	0	0	0	0	12282	1074	38	0	38	0	POU5F1B	8	128428147	Frame_Shift_Del	DEL	G	TCGA-EJ-7784-01A-11D-2114-08	100123449	128428147	17935875	43	5418											
ACTL7B	10880	broad.mit.edu	37	chr9	111617256	111617256	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcggcccaggcaggcagctgTgagctccgggaggcccggct	5	4	18	14	3	0	1	0	1	0	0	1	2	1	2	3	6	2	5	3	6	0	0			TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	b330d9da-504a-4dfe-b696-ceebe0369ede	g.chr9:111617256T>C	ENST00000374667.3	-	1	1983	c.955A>G	c.(955-957)Aca>Gca	p.T319A		NM_006686.3	NP_006677.1	Q9Y614	ACL7B_HUMAN	actin-like 7B	319						actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	structural constituent of cytoskeleton (GO:0005200)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						CAGGCAGCTGTGAGCTCCGGG	0.652																																						ENST00000374667.3																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						c.(955-957)Aca>Gca		actin-like 7B							31	39	36					9																	111617256		2193	4293	6486	SO:0001583	missense	10880					actin cytoskeleton|cytoplasm	structural constituent of cytoskeleton	g.chr9:111617256T>C	BC033789	CCDS6771.1	9q31	2009-05-15			ENSG00000148156	ENSG00000148156			162	protein-coding gene	gene with protein product		604304				10373328, 12907721	Standard	NM_006686		Approved	Tact1	uc004bdi.3	Q9Y614	OTTHUMG00000020462	ENST00000374667.3:c.955A>G	9.37:g.111617256T>C	ENSP00000363799:p.Thr319Ala						p.T319A	NM_006686.3	NP_006677.1	Q9Y614	ACL7B_HUMAN			1	1983	-			319					B2R9Q2|Q5JSV1	Missense_Mutation	SNP	ENST00000374667.3	37	c.955A>G	CCDS6771.1	.	.	.	.	.	.	.	.	.	.	T	14.92	2.678906	0.47886	.	.	ENSG00000148156	ENST00000374667	T	0.07216	3.21	5.24	4.09	0.47781	.	0.182612	0.26510	N	0.023975	T	0.06962	0.0177	N	0.25380	0.74	0.27972	N	0.93635	B	0.14805	0.011	B	0.18561	0.022	T	0.19095	-1.0316	10	0.87932	D	0	.	9.2838	0.37744	0.0:0.086:0.0:0.914	.	319	Q9Y614	ACL7B_HUMAN	A	319	ENSP00000363799:T319A	ENSP00000363799:T319A	T	-	1	0	ACTL7B	110657077	0.105000	0.21958	0.980000	0.43619	0.799000	0.45148	0.598000	0.24074	0.832000	0.34804	0.459000	0.35465	ACA		0.652	ACTL7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053571.1	NM_006686		15	62	0	0	0	0.479597	0	15	62					C	111617256	T	C	111617256	3	2	96	1	0	0	0	0	1	0	0	0	201	1696	59	4	296	4	ACTL7B	9	111617256	Missense_Mutation	SNP	T	TCGA-EJ-7784-01A-11D-2114-08		111617256	29596175	44	5419											
LPAR1	1902	broad.mit.edu	37	chr9	113704388	113704388	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggcaagatgctttccacttcGgttataaaagaaggcaatgg	13	10	11	7	1	0	2	0	0	0	2	2	2	1	2	1	4	1	4	1	4	6	4			TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	b330d9da-504a-4dfe-b696-ceebe0369ede	g.chr9:113704388G>A	ENST00000374431.3	-	4	489	c.106C>T	c.(106-108)Cga>Tga	p.R36*	LPAR1_ENST00000374430.2_Nonsense_Mutation_p.R36*|LPAR1_ENST00000541779.1_Nonsense_Mutation_p.R37*|LPAR1_ENST00000358883.4_Nonsense_Mutation_p.R36*|LPAR1_ENST00000538760.1_Nonsense_Mutation_p.R37*	NM_057159.2	NP_476500.1	Q92633	LPAR1_HUMAN	lysophosphatidic acid receptor 1	36					activation of MAPK activity (GO:0000187)|activation of phospholipase C activity (GO:0007202)|bleb assembly (GO:0032060)|cellular response to oxygen levels (GO:0071453)|G-protein coupled receptor signaling pathway (GO:0007186)|myelination (GO:0042552)|negative regulation of neuron projection development (GO:0010977)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of Rho protein signal transduction (GO:0035025)|positive regulation of smooth muscle cell chemotaxis (GO:0071673)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|lysophosphatidic acid receptor activity (GO:0070915)|phospholipid binding (GO:0005543)			breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(1)|ovary(2)|prostate(6)|skin(1)	21						TTTCCACTTCGGTTATAAAAG	0.418																																					NSCLC(115;661 2323 9836 34256)	ENST00000374431.3																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(1)|ovary(2)|prostate(6)|skin(1)	21						c.(106-108)Cga>Tga		lysophosphatidic acid receptor 1							99	86	91					9																	113704388		2203	4300	6503	SO:0001587	stop_gained	1902				positive regulation of I-kappaB kinase/NF-kappaB cascade	cell surface|integral to plasma membrane		g.chr9:113704388G>A	U80811	CCDS6777.1	9q	2012-08-08	2008-04-11	2008-04-11	ENSG00000198121	ENSG00000198121		"GPCR / Class A : Lysophospholipid receptors : Lysophosphatidic acid"	3166	protein-coding gene	gene with protein product		602282	"endothelial differentiation, lysophosphatidic acid G-protein-coupled receptor, 2"	EDG2		8922387, 9070858	Standard	NM_001401		Approved	edg-2, rec.1.3, vzg-1, Gpcr26, Mrec1.3, LPA1, GPR26	uc004bfc.3	Q92633	OTTHUMG00000020486	ENST00000374431.3:c.106C>T	9.37:g.113704388G>A	ENSP00000363553:p.Arg36*					LPAR1_ENST00000538760.1_Nonsense_Mutation_p.R37*|LPAR1_ENST00000358883.4_Nonsense_Mutation_p.R36*|LPAR1_ENST00000541779.1_Nonsense_Mutation_p.R37*|LPAR1_ENST00000374430.2_Nonsense_Mutation_p.R36*	p.R36*	NM_057159.2	NP_476500.1	Q92633	LPAR1_HUMAN			4	489	-			36					B4DK36|O00656|O00722|P78351	Nonsense_Mutation	SNP	ENST00000374431.3	37	c.106C>T	CCDS6777.1	.	.	.	.	.	.	.	.	.	.	G	37	6.343127	0.97489	.	.	ENSG00000198121	ENST00000374431;ENST00000541779;ENST00000374430;ENST00000358883;ENST00000449490;ENST00000538760;ENST00000441240	.	.	.	5.36	3.51	0.40186	.	0.054695	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07325	T	0.83	.	9.4556	0.38753	0.0745:0.0:0.7824:0.143	.	.	.	.	X	36;37;36;36;18;37;36	.	ENSP00000351755:R36X	R	-	1	2	LPAR1	112744209	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.242000	0.51384	0.639000	0.30564	0.655000	0.94253	CGA		0.418	LPAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053631.1	NM_057159		4	108	0	0	0	0.217242	0	4	108					A	113704388	G	A	113704388	4	1	96	1	0	0	0	0	0	1	0	0	8904	1124	39	2	996	2	LPAR1	9	113704388	Nonsense_Mutation	SNP	G	TCGA-EJ-7784-01A-11D-2114-08	2087132	113704388	27509043	45	5420											
PTGS1	5742	broad.mit.edu	37	chr9	125154663	125154663	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tccggagtactggaagccgaGcacatttggcggcgaggtgg	8	7	17	9	4	0	0	0	0	0	0	1	4	1	2	2	6	3	2	2	6	2	2			TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	b330d9da-504a-4dfe-b696-ceebe0369ede	g.chr9:125154663G>A	ENST00000362012.2	+	11	1645	c.1640G>A	c.(1639-1641)aGc>aAc	p.S547N	PTGS1_ENST00000373698.5_Missense_Mutation_p.S438N|PTGS1_ENST00000223423.4_Missense_Mutation_p.S510N|PTGS1_ENST00000540753.1_Missense_Mutation_p.S485N	NM_000962.3|NM_001271164.1|NM_001271367.1|NM_080591.2	NP_000953.2|NP_001258093.1|NP_001258296.1|NP_542158.1	P23219	PGH1_HUMAN	prostaglandin-endoperoxide synthase 1 (prostaglandin G/H synthase and cyclooxygenase)	547					arachidonic acid metabolic process (GO:0019369)|cyclooxygenase pathway (GO:0019371)|inflammatory response (GO:0006954)|lipid metabolic process (GO:0006629)|prostaglandin biosynthetic process (GO:0001516)|regulation of blood pressure (GO:0008217)|regulation of cell proliferation (GO:0042127)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|photoreceptor outer segment (GO:0001750)	dioxygenase activity (GO:0051213)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)|prostaglandin-endoperoxide synthase activity (GO:0004666)			large_intestine(3)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	8					Acetaminophen(DB00316)|Acetylsalicylic acid(DB00945)|Antipyrine(DB01435)|Antrafenine(DB01419)|Balsalazide(DB01014)|Bortezomib(DB00188)|Bromfenac(DB00963)|Candesartan(DB00796)|Carprofen(DB00821)|Carvedilol(DB01136)|Chlorpropamide(DB00672)|Dapsone(DB00250)|Desmopressin(DB00035)|Diazepam(DB00829)|Diclofenac(DB00586)|Diethylcarbamazine(DB00711)|Diflunisal(DB00861)|Dihomo-gamma-linolenic acid(DB00154)|Diphenhydramine(DB01075)|Dronabinol(DB00470)|Eletriptan(DB00216)|Eszopiclone(DB00402)|Etodolac(DB00749)|Etoposide(DB00773)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|Hexobarbital(DB01355)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Icosapent(DB00159)|Ifosfamide(DB01181)|Imatinib(DB00619)|Indomethacin(DB00328)|Irbesartan(DB01029)|Ketamine(DB01221)|Ketobemidone(DB06738)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lornoxicam(DB06725)|Lumiracoxib(DB01283)|Magnesium salicylate(DB01397)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mesalazine(DB00244)|Minoxidil(DB00350)|Montelukast(DB00471)|Nabumetone(DB00461)|Naproxen(DB00788)|Nateglinide(DB00731)|Nepafenac(DB06802)|Niflumic Acid(DB04552)|Nortriptyline(DB00540)|Oxaprozin(DB00991)|Phenylbutazone(DB00812)|Pioglitazone(DB01132)|Piroxicam(DB00554)|Rosiglitazone(DB00412)|Salicylate-sodium(DB01398)|Salicylic acid(DB00936)|Salsalate(DB01399)|Sulfamethoxazole(DB01015)|Sulfasalazine(DB00795)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Terbinafine(DB00857)|Thalidomide(DB01041)|Tiaprofenic acid(DB01600)|Tolmetin(DB00500)|Torasemide(DB00214)|Trabectedin(DB05109)|Triflusal(DB08814)|Trisalicylate-choline(DB01401)|Valproic Acid(DB00313)|Voriconazole(DB00582)|Zafirlukast(DB00549)|Zileuton(DB00744)|Zolpidem(DB00425)|Zopiclone(DB01198)	TGGAAGCCGAGCACATTTGGC	0.527																																						ENST00000362012.2																			0				large_intestine(3)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	8						c.(1639-1641)aGc>aAc		prostaglandin-endoperoxide synthase 1 (prostaglandin G/H synthase and cyclooxygenase)	Acetaminophen(DB00316)|Aspirin(DB00945)|Balsalazide(DB01014)|Bromfenac(DB00963)|Ciclopirox(DB01188)|Diclofenac(DB00586)|Diflunisal(DB00861)|Dipyrone(DB04817)|Etodolac(DB00749)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|gamma-Homolinolenic acid(DB00154)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lumiracoxib(DB01283)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Mesalazine(DB00244)|Minoxidil(DB00350)|Nabumetone(DB00461)|Naproxen(DB00788)|Phenacetin(DB03783)|Piroxicam(DB00554)|Rofecoxib(DB00533)|Salicyclic acid(DB00936)|Salsalate(DB01399)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Tolmetin(DB00500)						115	113	114					9																	125154663		2203	4300	6503	SO:0001583	missense	5742				cyclooxygenase pathway|hormone biosynthetic process|regulation of blood pressure|response to oxidative stress|xenobiotic metabolic process	endoplasmic reticulum membrane|Golgi apparatus|microsome|plasma membrane	heme binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peroxidase activity|prostaglandin-endoperoxide synthase activity	g.chr9:125154663G>A	M59979	CCDS6842.1, CCDS6843.1, CCDS59520.1, CCDS59521.1, CCDS75895.1	9q32-q33.3	2008-02-05			ENSG00000095303	ENSG00000095303	1.14.99.1		9604	protein-coding gene	gene with protein product		176805				2512924, 1907252	Standard	NM_000962		Approved	COX1, PGHS-1, PTGHS	uc004bmg.2	P23219	OTTHUMG00000020605	ENST00000362012.2:c.1640G>A	9.37:g.125154663G>A	ENSP00000354612:p.Ser547Asn					PTGS1_ENST00000373698.5_Missense_Mutation_p.S438N|PTGS1_ENST00000540753.1_Missense_Mutation_p.S485N|PTGS1_ENST00000223423.4_Missense_Mutation_p.S510N	p.S547N	NM_000962.2|NM_001271164.1|NM_080591.1	NP_000953.2|NP_001258093.1|NP_542158.1	P23219	PGH1_HUMAN			11	1645	+			547					A8K1V7|B4DHQ2|B4E2S5|Q15122|Q3HY28|Q3HY29|Q5T7T6|Q5T7T7|Q5T7T8	Missense_Mutation	SNP	ENST00000362012.2	37	c.1640G>A	CCDS6842.1	.	.	.	.	.	.	.	.	.	.	G	32	5.153043	0.94645	.	.	ENSG00000095303	ENST00000540753;ENST00000362012;ENST00000223423;ENST00000373698	T;T;T;T	0.10382	2.88;2.88;2.88;2.88	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	T	0.44074	0.1276	M	0.92026	3.265	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;0.999;1.0	T	0.55055	-0.8200	10	0.87932	D	0	-31.7031	18.2032	0.89846	0.0:0.0:1.0:0.0	.	485;547;510	B4DHQ2;P23219;P23219-2	.;PGH1_HUMAN;.	N	485;547;510;438	ENSP00000437709:S485N;ENSP00000354612:S547N;ENSP00000223423:S510N;ENSP00000362802:S438N	ENSP00000223423:S510N	S	+	2	0	PTGS1	124194484	1.000000	0.71417	0.999000	0.59377	0.852000	0.48524	9.864000	0.99589	2.539000	0.85634	0.655000	0.94253	AGC		0.527	PTGS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053933.1			9	138	0	0	0	0.38729	0	9	138					A	125154663	G	A	125154663	3	1	96	1	0	0	0	0	1	0	0	0	12755	971	34	3	1682	3	PTGS1	9	125154663	Missense_Mutation	SNP	G	TCGA-EJ-7784-01A-11D-2114-08	11450275	125154663	16058768	46	5421											
ZDHHC16	84287	broad.mit.edu	37	chr10	99212187	99212187	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacagggcaggaatgatatcGccaccgtctccatctgtaag	11	8	10	12	2	2	1	0	1	2	0	4	2	2	2	3	2	0	2	3	2	3	2	rs151287328		TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	b330d9da-504a-4dfe-b696-ceebe0369ede	g.chr10:99212187G>A	ENST00000370854.3	+	4	643	c.454G>A	c.(454-456)Gcc>Acc	p.A152T	ZDHHC16_ENST00000495735.1_3'UTR|ZDHHC16_ENST00000393760.1_Missense_Mutation_p.A152T|ZDHHC16_ENST00000370846.4_Missense_Mutation_p.A152T|ZDHHC16_ENST00000353979.3_Missense_Mutation_p.A152T|ZDHHC16_ENST00000345745.5_Missense_Mutation_p.A87T|ZDHHC16_ENST00000352634.4_Missense_Mutation_p.A152T|ZDHHC16_ENST00000370842.2_Missense_Mutation_p.A152T	NM_032327.2	NP_115703.2	Q969W1	ZDH16_HUMAN	zinc finger, DHHC-type containing 16	152					apoptotic process (GO:0006915)|protein palmitoylation (GO:0018345)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			kidney(4)|large_intestine(3)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	14		Colorectal(252;0.0846)		Epithelial(162;5.81e-10)|all cancers(201;4.19e-08)		GAATGATATCGCCACCGTCTC	0.532																																						ENST00000393760.1																			0				kidney(4)|large_intestine(3)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	14						c.(454-456)Gcc>Acc		zinc finger, DHHC-type containing 16		G	THR/ALA,THR/ALA,THR/ALA,THR/ALA,THR/ALA	0,4406		0,0,2203	136	124	129		454,454,454,259,454	5	0.7	10	dbSNP_134	129	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense,missense	ZDHHC16	NM_032327.2,NM_198043.1,NM_198044.1,NM_198045.1,NM_198046.1	58,58,58,58,58	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign,benign,benign,benign,benign	152/378,152/362,152/339,87/297,152/378	99212187	1,13005	2203	4300	6503	SO:0001583	missense	84287				apoptosis	endoplasmic reticulum membrane|integral to membrane	acyltransferase activity|zinc ion binding	g.chr10:99212187G>A	AF258563	CCDS7460.1, CCDS7461.1, CCDS7462.1, CCDS7463.1, CCDS73176.1	10q24.1	2008-05-02			ENSG00000171307	ENSG00000171307		"Zinc fingers, DHHC-type"	20714	protein-coding gene	gene with protein product						12021275	Standard	NM_198043		Approved	APH2	uc001knk.3	Q969W1	OTTHUMG00000018847	ENST00000370854.3:c.454G>A	10.37:g.99212187G>A	ENSP00000359891:p.Ala152Thr					ZDHHC16_ENST00000370854.3_Missense_Mutation_p.A152T|ZDHHC16_ENST00000370846.4_Missense_Mutation_p.A152T|ZDHHC16_ENST00000370842.2_Missense_Mutation_p.A152T|ZDHHC16_ENST00000345745.5_Missense_Mutation_p.A87T|ZDHHC16_ENST00000352634.4_Missense_Mutation_p.A152T|ZDHHC16_ENST00000353979.3_Missense_Mutation_p.A152T|ZDHHC16_ENST00000495735.1_3'UTR	p.A152T	NM_198046.1	NP_932163.1	Q969W1	ZDH16_HUMAN		Epithelial(162;5.81e-10)|all cancers(201;4.19e-08)	5	803	+		Colorectal(252;0.0846)	152					D3DR52|D3DR53|D3DR54|Q5JTG7|Q5JTH0|Q8N4Z6|Q8WY84|Q9BSV3	Missense_Mutation	SNP	ENST00000370854.3	37	c.454G>A	CCDS7460.1	.	.	.	.	.	.	.	.	.	.	G	9.534	1.111705	0.20714	0.0	1.16E-4	ENSG00000171307	ENST00000370854;ENST00000393760;ENST00000414567;ENST00000370846;ENST00000352634;ENST00000353979;ENST00000370842;ENST00000345745;ENST00000433086	T;T;T;T;T;T;T;T	0.72725	0.63;0.63;-0.09;-0.68;0.32;0.32;-0.07;0.34	5.95	5.03	0.67393	.	0.159012	0.56097	N	0.000027	T	0.48714	0.1515	N	0.16266	0.395	0.35015	D	0.757283	B;B;B;B;B;B;B;B	0.13145	0.0;0.0;0.007;0.004;0.0;0.001;0.003;0.0	B;B;B;B;B;B;B;B	0.09377	0.002;0.002;0.004;0.003;0.002;0.002;0.002;0.001	T	0.50939	-0.8768	10	0.15066	T	0.55	-14.7595	6.6928	0.23183	0.1698:0.148:0.6822:0.0	.	152;87;152;127;152;87;152;152	B4DNL2;E9PCL9;B1AMU0;B1AMU1;Q969W1-3;Q969W1-4;Q969W1-2;Q969W1	.;.;.;.;.;.;.;ZDH16_HUMAN	T	152;152;152;152;152;152;152;87;87	ENSP00000359891:A152T;ENSP00000377357:A152T;ENSP00000400719:A152T;ENSP00000359883:A152T;ENSP00000345383:A152T;ENSP00000359879:A152T;ENSP00000304487:A87T;ENSP00000398532:A87T	ENSP00000304487:A87T	A	+	1	0	ZDHHC16	99202177	0.998000	0.40836	0.653000	0.29593	0.895000	0.52256	4.575000	0.60908	1.482000	0.48325	0.561000	0.74099	GCC		0.532	ZDHHC16-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049658.2	NM_032327		16	87	0	0	0	0.608945	0	16	87					A	99212187	G	A	99212187	3	1	96	1	0	0	0	0	1	0	0	0	17603	1087	38	1	464	1	ZDHHC16	10	99212187	Missense_Mutation	SNP	G	TCGA-EJ-7784-01A-11D-2114-08		99212187	36322560	47	5422											
CRY2	1408	broad.mit.edu	37	chr11	45869058	45869058	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtcatggcggcgactgtggCgacggcggcagctgtggccc	5	6	18	12	5	1	0	1	0	0	0	1	2	1	0	1	6	1	2	1	6	0	0			TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	b330d9da-504a-4dfe-b696-ceebe0369ede	g.chr11:45869058C>G	ENST00000443527.2	+	1	102	c.80C>G	c.(79-81)gCg>gGg	p.A27G	CRY2_ENST00000473199.1_3'UTR|CRY2_ENST00000417225.2_Intron	NM_021117.3	NP_066940.2	Q49AN0	CRY2_HUMAN	cryptochrome circadian clock 2	6	Photolyase/cryptochrome alpha/beta.				blue light signaling pathway (GO:0009785)|circadian regulation of gene expression (GO:0032922)|circadian rhythm (GO:0007623)|DNA repair (GO:0006281)|entrainment of circadian clock by photoperiod (GO:0043153)|glucose homeostasis (GO:0042593)|negative regulation of circadian rhythm (GO:0042754)|negative regulation of glucocorticoid receptor signaling pathway (GO:2000323)|negative regulation of phosphoprotein phosphatase activity (GO:0032515)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|protein-chromophore linkage (GO:0018298)|regulation of circadian rhythm (GO:0042752)|regulation of sodium-dependent phosphate transport (GO:2000118)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|nucleus (GO:0005634)	blue light photoreceptor activity (GO:0009882)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|DNA photolyase activity (GO:0003913)|FAD binding (GO:0071949)|phosphatase binding (GO:0019902)|single-stranded DNA binding (GO:0003697)|transcription factor binding transcription factor activity (GO:0000989)|transcription regulatory region sequence-specific DNA binding (GO:0000976)|ubiquitin binding (GO:0043130)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(2)	15						gcgactgtggcgacggcggca	0.721																																					Esophageal Squamous(106;91 1499 8126 12599 39610)	ENST00000443527.2																			0				NS(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(2)	15						c.(79-81)gCg>gGg		cryptochrome 2 (photolyase-like)							6	11	9					11																	45869058		2065	4132	6197	SO:0001583	missense	1408				DNA repair|protein-chromophore linkage|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	blue light photoreceptor activity|damaged DNA binding|DNA photolyase activity|nucleotide binding|protein binding|single-stranded DNA binding	g.chr11:45869058C>G	AB014558	CCDS7915.2, CCDS44576.1	11p11.2	2014-01-17	2014-01-17		ENSG00000121671	ENSG00000121671			2385	protein-coding gene	gene with protein product		603732	"cryptochrome 2 (photolyase-like)"			8909283	Standard	NM_021117		Approved		uc010rgn.2	Q49AN0	OTTHUMG00000153225	ENST00000443527.2:c.80C>G	11.37:g.45869058C>G	ENSP00000406751:p.Ala27Gly					CRY2_ENST00000417225.2_Intron|CRY2_ENST00000473199.1_3'UTR	p.A27G	NM_021117.3	NP_066940.2	Q49AN0	CRY2_HUMAN			1	102	+			6			DNA photolyase.		B4DH32|B4DZD6|O75148|Q8IV71	Missense_Mutation	SNP	ENST00000443527.2	37	c.80C>G	CCDS7915.2	.	.	.	.	.	.	.	.	.	.	C	17.41	3.382197	0.61845	.	.	ENSG00000121671	ENST00000443527	.	.	.	4.7	-9.4	0.00616	.	1.386070	0.04902	N	0.451529	T	0.21062	0.0507	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.14952	-1.0454	9	0.21540	T	0.41	-0.0045	10.0038	0.41944	0.0:0.5382:0.3193:0.1425	.	27	B4DZD6	.	G	27	.	ENSP00000406751:A27G	A	+	2	0	CRY2	45825634	0.001000	0.12720	0.000000	0.03702	0.716000	0.41182	-0.729000	0.04920	-2.215000	0.00733	0.561000	0.74099	GCG		0.721	CRY2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000330235.2	NM_021117		4	10	0	0	0	0.184627	0	4	10					G	45869058	C	G	45869058	3	3	96	1	0	0	0	0	1	0	0	0	3904	768	27	5	118	5	CRY2	11	45869058	Missense_Mutation	SNP	C	TCGA-EJ-7784-01A-11D-2114-08		45869058	89137458	48	5423											
OR5D16	390144	broad.mit.edu	37	chr11	55607137	55607137	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aagatgttaaggatgcaatcCgaaaaataatcaatacaaaa	22	8	6	5	1	1	1	1	0	0	1	2	3	2	2	1	1	2	2	1	1	10	3	rs542655306		TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	b330d9da-504a-4dfe-b696-ceebe0369ede	g.chr11:55607137C>T	ENST00000378396.1	+	1	910	c.910C>T	c.(910-912)Cga>Tga	p.R304*		NM_001005496.1	NP_001005496.1	Q8NGK9	OR5DG_HUMAN	olfactory receptor, family 5, subfamily D, member 16	304						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(1)|endometrium(2)|large_intestine(4)|lung(26)|ovary(5)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	44		all_epithelial(135;0.208)				GGATGCAATCCGAAAAATAAT	0.333													-|||	1	0.000199681	0	0	5008	,	,		17709	0		0.001	False		,,,				2504	0					ENST00000378396.1																			0				cervix(1)|endometrium(2)|large_intestine(4)|lung(26)|ovary(5)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	44						c.(910-912)Cga>Tga		olfactory receptor, family 5, subfamily D, member 16							29	31	31					11																	55607137		2200	4294	6494	SO:0001587	stop_gained	390144				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55607137C>T	AB065783	CCDS31512.1	11q11	2012-08-09			ENSG00000205029	ENSG00000205029		"GPCR / Class A : Olfactory receptors"	15283	protein-coding gene	gene with protein product							Standard	NM_001005496		Approved		uc010rio.2	Q8NGK9	OTTHUMG00000154233	ENST00000378396.1:c.910C>T	11.37:g.55607137C>T	ENSP00000367649:p.Arg304*						p.R304*	NM_001005496.1	NP_001005496.1	Q8NGK9	OR5DG_HUMAN			1	910	+		all_epithelial(135;0.208)	304					Q6IF65|Q96RB4	Nonsense_Mutation	SNP	ENST00000378396.1	37	c.910C>T	CCDS31512.1	.	.	.	.	.	.	.	.	.	.	.	10.21	1.287337	0.23478	.	.	ENSG00000205029	ENST00000378396	.	.	.	4.18	-0.539	0.11865	.	.	.	.	.	.	.	.	.	.	.	0.41978	D	0.99078	.	.	.	.	.	.	.	.	.	.	0.12103	T	0.63	3.2619	0.7552	0.00997	0.4339:0.1629:0.2456:0.1576	.	.	.	.	X	304	.	ENSP00000367649:R304X	R	+	1	2	OR5D16	55363713	0.000000	0.05858	0.000000	0.03702	0.090000	0.18270	0.178000	0.16820	-0.297000	0.08934	-0.529000	0.04317	CGA		0.333	OR5D16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334506.1	NM_001005496		8	38	0	0	0	0.335167	0	8	38					T	55607137	C	T	55607137	4	4	96	1	0	0	0	0	0	1	0	0	11156	644	23	2	912	2	OR5D16	11	55607137	Nonsense_Mutation	SNP	C	TCGA-EJ-7784-01A-11D-2114-08	9738079	55607137	79399379	49	5424											
ATM	472	broad.mit.edu	37	chr11	108164131	108164131	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttagatccttttcctgaccAtgttgtttttaaggatttgc	7	20	7	7	0	0	2	0	1	0	1	2	3	2	3	3	1	1	2	3	1	2	9	rs368830730		TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	b330d9da-504a-4dfe-b696-ceebe0369ede	g.chr11:108164131A>T	ENST00000452508.2	+	32	4892	c.4703A>T	c.(4702-4704)cAt>cTt	p.H1568L	ATM_ENST00000278616.4_Missense_Mutation_p.H1568L			Q13315	ATM_HUMAN	ATM serine/threonine kinase	1568					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|DNA damage induced protein phosphorylation (GO:0006975)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|heart development (GO:0007507)|histone mRNA catabolic process (GO:0071044)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|lipoprotein catabolic process (GO:0042159)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of B cell proliferation (GO:0030889)|neuron apoptotic process (GO:0051402)|oocyte development (GO:0048599)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of neuron apoptotic process (GO:0043525)|pre-B cell allelic exclusion (GO:0002331)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reciprocal meiotic recombination (GO:0007131)|replicative senescence (GO:0090399)|response to hypoxia (GO:0001666)|response to ionizing radiation (GO:0010212)|signal transduction (GO:0007165)|signal transduction involved in mitotic G2 DNA damage checkpoint (GO:0072434)|somitogenesis (GO:0001756)|telomere maintenance (GO:0000723)	cytoplasmic vesicle (GO:0031410)|nucleoplasm (GO:0005654)|spindle (GO:0005819)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|histone serine kinase activity (GO:0035174)|protein complex binding (GO:0032403)|protein dimerization activity (GO:0046983)|protein N-terminus binding (GO:0047485)|protein serine/threonine kinase activity (GO:0004674)			NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	Caffeine(DB00201)	TTTCCTGACCATGTTGTTTTT	0.308			"D, Mis, N, F, S"		T-PLL	"leukemia, lymphoma, medulloblastoma, glioma"		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)																												ENST00000278616.4			yes	Rec	yes	Ataxia-telangiectasia	11	11q22.3	472	"D, Mis, N, F, S"	ataxia telangiectasia mutated			"L, O"		"leukemia, lymphoma, medulloblastoma, glioma"	T-PLL		0				NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448						c.(4702-4704)cAt>cTt	Genes defective in diseases associated with sensitivity to DNA damaging agents	ataxia telangiectasia mutated							105	111	109					11																	108164131		2200	4295	6495	SO:0001583	missense	472	Ataxia Telangiectasia	Familial Cancer Database	AT, Louis-Bar syndrome	cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding	g.chr11:108164131A>T	AB209133	CCDS31669.1	11q22-q23	2014-09-17	2014-06-17		ENSG00000149311	ENSG00000149311			795	protein-coding gene	gene with protein product	"TEL1, telomere maintenance 1, homolog (S. cerevisiae)"	607585	"ataxia telangiectasia mutated (includes complementation groups A, C and D)", "ataxia telangiectasia mutated"	ATA, ATDC, ATC, ATD			Standard	XM_005271561		Approved	TEL1, TELO1	uc001pkb.1	Q13315	OTTHUMG00000166480	ENST00000452508.2:c.4703A>T	11.37:g.108164131A>T	ENSP00000388058:p.His1568Leu	TSP Lung(14;0.12)				ATM_ENST00000452508.2_Missense_Mutation_p.H1568L	p.H1568L	NM_000051.3	NP_000042.3	Q13315	ATM_HUMAN		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	31	5088	+		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)	1568					B2RNX5|O15429|Q12758|Q16551|Q93007|Q9NP02|Q9UCX7	Missense_Mutation	SNP	ENST00000452508.2	37	c.4703A>T	CCDS31669.1	.	.	.	.	.	.	.	.	.	.	A	8.774	0.926526	0.18056	.	.	ENSG00000149311	ENST00000278616;ENST00000452508	T;T	0.01369	4.97;4.97	5.31	3.0	0.34707	Armadillo-type fold (1);	0.319320	0.37136	N	0.002229	T	0.01029	0.0034	L	0.28274	0.84	0.26706	N	0.971072	B	0.02656	0.0	B	0.01281	0.0	T	0.47560	-0.9108	10	0.11485	T	0.65	.	4.6875	0.12764	0.709:0.0:0.1505:0.1405	.	1568	Q13315	ATM_HUMAN	L	1568	ENSP00000278616:H1568L;ENSP00000388058:H1568L	ENSP00000278616:H1568L	H	+	2	0	ATM	107669341	0.135000	0.22499	1.000000	0.80357	0.999000	0.98932	0.707000	0.25704	0.965000	0.38133	0.533000	0.62120	CAT		0.308	ATM-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389938.1	NM_000051		8	102	0	0	0	0.307466	0	8	102					T	108164131	A	T	108164131	3	4	96	1	0	0	0	0	1	0	0	0	1109	217	8	5	4821	5	ATM	11	108164131	Missense_Mutation	SNP	A	TCGA-EJ-7784-01A-11D-2114-08	52556994	108164131	26842385	50	5425											
BUD13	84811	broad.mit.edu	37	chr11	116629027	116629027	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gctcatctctctctgagtccTtttctgctttcctcctttgc	2	19	5	15	0	4	1	1	1	3	0	9	1	7	1	3	0	2	2	3	0	0	4			TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	b330d9da-504a-4dfe-b696-ceebe0369ede	g.chr11:116629027T>C	ENST00000260210.4	-	7	1480	c.1457A>G	c.(1456-1458)aAg>aGg	p.K486R	BUD13_ENST00000375445.3_Missense_Mutation_p.K352R	NM_032725.3	NP_116114.1	Q9BRD0	BUD13_HUMAN	BUD13 homolog (S. cerevisiae)	486					mRNA export from nucleus (GO:0006406)|mRNA splicing, via spliceosome (GO:0000398)	nucleus (GO:0005634)|RES complex (GO:0070274)	poly(A) RNA binding (GO:0044822)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|pancreas(2)|skin(1)|urinary_tract(1)	22	all_hematologic(175;0.0487)	all_cancers(61;1.72e-06)|all_epithelial(67;0.000735)|Melanoma(852;0.022)|Acute lymphoblastic leukemia(157;0.0255)|Medulloblastoma(222;0.0523)|Breast(348;0.056)|all_hematologic(158;0.0588)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|Epithelial(105;5.81e-06)|all cancers(92;0.000144)|OV - Ovarian serous cystadenocarcinoma(223;0.154)		CTCTGAGTCCTTTTCTGCTTT	0.443																																						ENST00000260210.4																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|pancreas(2)|skin(1)|urinary_tract(1)	22						c.(1456-1458)aAg>aGg		BUD13 homolog (S. cerevisiae)							251	223	232					11																	116629027		2201	4296	6497	SO:0001583	missense	84811							g.chr11:116629027T>C	BC006350	CCDS8374.1, CCDS53712.1	11q23.3	2012-06-07	2007-01-12		ENSG00000137656	ENSG00000137656			28199	protein-coding gene	gene with protein product	"functional spliceosome-associated protein 71"		"BUD13 homolog (yeast)"			12477932	Standard	NM_032725		Approved	MGC13125, fSAP71, Cwc26	uc001ppn.3	Q9BRD0	OTTHUMG00000045136	ENST00000260210.4:c.1457A>G	11.37:g.116629027T>C	ENSP00000260210:p.Lys486Arg					BUD13_ENST00000375445.3_Missense_Mutation_p.K352R	p.K486R	NM_032725.3	NP_116114.1	Q9BRD0	BUD13_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|Epithelial(105;5.81e-06)|all cancers(92;0.000144)|OV - Ovarian serous cystadenocarcinoma(223;0.154)	7	1480	-	all_hematologic(175;0.0487)	all_cancers(61;1.72e-06)|all_epithelial(67;0.000735)|Melanoma(852;0.022)|Acute lymphoblastic leukemia(157;0.0255)|Medulloblastoma(222;0.0523)|Breast(348;0.056)|all_hematologic(158;0.0588)	486					A8K0S0|Q96LS7	Missense_Mutation	SNP	ENST00000260210.4	37	c.1457A>G	CCDS8374.1	.	.	.	.	.	.	.	.	.	.	T	17.27	3.345853	0.61073	.	.	ENSG00000137656	ENST00000375445;ENST00000260210	T;T	0.20200	2.12;2.09	5.6	5.6	0.85130	.	0.141094	0.64402	D	0.000007	T	0.24928	0.0605	L	0.31371	0.925	0.37797	D	0.927575	P;P	0.51653	0.734;0.947	B;P	0.51101	0.39;0.659	T	0.07121	-1.0789	10	0.87932	D	0	-22.7288	12.8043	0.57605	0.0:0.0:0.1452:0.8548	.	352;486	Q9BRD0-2;Q9BRD0	.;BUD13_HUMAN	R	352;486	ENSP00000364594:K352R;ENSP00000260210:K486R	ENSP00000260210:K486R	K	-	2	0	BUD13	116134237	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.165000	0.58196	2.251000	0.74343	0.528000	0.53228	AAG		0.443	BUD13-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000104864.1	NM_032725		3	193	0	0	0	0.115264	0	3	193					C	116629027	T	C	116629027	3	2	96	1	0	0	0	0	1	0	0	0	1573	1609	56	4	418	4	BUD13	11	116629027	Missense_Mutation	SNP	T	TCGA-EJ-7784-01A-11D-2114-08	8464896	116629027	18377489	51	5426											
MLF2	8079	broad.mit.edu	37	chr12	6858044	6858044	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggaggcccctccgcccttcGtcccccagcccctgaggact	4	6	11	20	2	0	1	0	1	0	0	3	3	2	3	8	3	1	0	8	3	0	1			TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	b330d9da-504a-4dfe-b696-ceebe0369ede	g.chr12:6858044G>A	ENST00000203630.5	-	8	1308	c.664C>T	c.(664-666)Cga>Tga	p.R222*	MLF2_ENST00000542154.1_Nonsense_Mutation_p.R222*|MLF2_ENST00000435120.1_Nonsense_Mutation_p.R222*|MLF2_ENST00000539187.1_Nonsense_Mutation_p.R222*|MLF2_ENST00000564181.1_5'Flank			Q15773	MLF2_HUMAN	myeloid leukemia factor 2	222					defense response (GO:0006952)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)				kidney(2)|large_intestine(3)|lung(4)	9						TCCGCCCTTCGTCCCCCAGCC	0.711																																						ENST00000203630.5																			0				kidney(2)|large_intestine(3)|lung(4)	9						c.(664-666)Cga>Tga		myeloid leukemia factor 2							21	23	22					12																	6858044		2198	4282	6480	SO:0001587	stop_gained	8079				defense response	cytoplasm|nucleus	protein binding	g.chr12:6858044G>A	U57342	CCDS8559.1	12p13.31	2014-09-11			ENSG00000089693	ENSG00000089693			7126	protein-coding gene	gene with protein product		601401				8661158	Standard	NM_005439		Approved	NTN4	uc010sfi.2	Q15773	OTTHUMG00000168717	ENST00000203630.5:c.664C>T	12.37:g.6858044G>A	ENSP00000203630:p.Arg222*					MLF2_ENST00000539187.1_Nonsense_Mutation_p.R222*|MLF2_ENST00000435120.1_Nonsense_Mutation_p.R222*|MLF2_ENST00000542154.1_Nonsense_Mutation_p.R222*	p.R222*			Q15773	MLF2_HUMAN			8	1308	-			222						Nonsense_Mutation	SNP	ENST00000203630.5	37	c.664C>T	CCDS8559.1	.	.	.	.	.	.	.	.	.	.	G	14.27	2.485219	0.44147	.	.	ENSG00000089693	ENST00000435120;ENST00000203630;ENST00000542154;ENST00000539187	.	.	.	5.08	4.09	0.47781	.	0.210963	0.41001	D	0.000964	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	16.1897	0.81977	0.0:0.0:0.8577:0.1423	.	.	.	.	X	222	.	ENSP00000203630:R222X	R	-	1	2	MLF2	6728305	0.813000	0.29090	0.713000	0.30519	0.368000	0.29767	2.522000	0.45572	2.365000	0.80145	0.491000	0.48974	CGA		0.711	MLF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400733.2			6	35	0	0	0	0.217242	0	6	35					A	6858044	G	A	6858044	4	1	96	1	0	0	0	0	0	1	0	0	9616	1153	40	1	86	1	MLF2	12	6858044	Nonsense_Mutation	SNP	G	TCGA-EJ-7784-01A-11D-2114-08		6858044	126993851	52	5427											
PRB2	653247	broad.mit.edu	37	chr12	11546771	11546771	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gttgcctccttgtgggggtgGtccttgtggctttcctggag	1	15	16	9	0	0	0	0	0	0	0	3	1	3	1	4	5	1	2	4	5	0	4			TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	b330d9da-504a-4dfe-b696-ceebe0369ede	g.chr12:11546771G>C	ENST00000389362.4	-	3	276	c.241C>G	c.(241-243)Cca>Gca	p.P81A	PRB2_ENST00000545829.1_5'Flank|PRB1_ENST00000546254.1_Intron	NM_006248.3	NP_006239.3	P02812	PRB2_HUMAN	proline-rich protein BstNI subfamily 2	81	15 X 20 AA approximate tandem repeats of P-P-G-K-P-Q-G-P-P-P-Q-G-[GD]-[NKS]-[KSQ]- [PRS]-[QRS] [GPS]-[PSAR]-[PSR].					extracellular region (GO:0005576)		p.P81A(1)|p.P60A(1)		NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(5)|skin(4)|stomach(2)|urinary_tract(1)	37		all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09)	OV - Ovarian serous cystadenocarcinoma(49;0.185)			TGTGGGGGTGGTCCTTGTGGC	0.612																																						ENST00000389362.4																			2	Substitution - Missense(2)	p.P81A(1)|p.P60A(1)	urinary_tract(2)	NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(5)|skin(4)|stomach(2)|urinary_tract(1)	37						c.(241-243)Cca>Gca		proline-rich protein BstNI subfamily 2							119	137	131					12																	11546771		2162	4222	6384	SO:0001583	missense	653247							g.chr12:11546771G>C	K03208	CCDS41757.2	12p13.2	2012-10-02			ENSG00000121335	ENSG00000121335			9338	protein-coding gene	gene with protein product		168810				8554050	Standard	NM_006248		Approved	PRPPRB1, Ps, cP7	uc010shk.1	P02812	OTTHUMG00000156975	ENST00000389362.4:c.241C>G	12.37:g.11546771G>C	ENSP00000374013:p.Pro81Ala					PRB1_ENST00000546254.1_Intron	p.P81A	NM_006248.3	NP_006239.3			OV - Ovarian serous cystadenocarcinoma(49;0.185)		3	276	-		all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09)						O00599|P02811|P04281	Missense_Mutation	SNP	ENST00000389362.4	37	c.241C>G	CCDS41757.2	.	.	.	.	.	.	.	.	.	.	.	7.105	0.574795	0.13623	.	.	ENSG00000121335	ENST00000389362	T	0.04275	3.66	1.69	-1.72	0.08107	.	924.301000	0.02017	U	0.047463	T	0.11281	0.0275	M	0.80982	2.52	0.27230	N	0.959422	D	0.64830	0.994	P	0.52217	0.693	T	0.49597	-0.8923	10	0.08179	T	0.78	.	4.3941	0.11355	0.0:0.2425:0.5138:0.2437	.	81	P02812	PRB2_HUMAN	A	81	ENSP00000374013:P81A	ENSP00000374013:P81A	P	-	1	0	PRB2	11438038	0.741000	0.28217	0.112000	0.21494	0.160000	0.22226	-0.004000	0.12878	-0.045000	0.13468	0.418000	0.28097	CCA		0.612	PRB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346925.2	NM_006248		6	409	0	0	0	0.27861	0	6	409					C	11546771	G	C	11546771	3	2	96	1	0	0	0	0	1	0	0	0	12443	1261	44	5	1013	5	PRB2	12	11546771	Missense_Mutation	SNP	G	TCGA-EJ-7784-01A-11D-2114-08	4688727	11546771	122305124	53	5428											
TRAFD1	10906	broad.mit.edu	37	chr12	112572542	112572542	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tctttggtctatttccgtagCaaaaaagaaattcctgtgtt	11	16	7	7	1	2	1	0	0	2	1	4	1	4	1	2	1	1	3	2	1	6	6			TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	b330d9da-504a-4dfe-b696-ceebe0369ede	g.chr12:112572542C>A	ENST00000257604.5	+	3	665	c.48C>A	c.(46-48)tgC>tgA	p.C16*	TRAFD1_ENST00000412615.2_Splice_Site_p.C16*	NM_001143906.1	NP_001137378.1	O14545	TRAD1_HUMAN	TRAF-type zinc finger domain containing 1	16					negative regulation of innate immune response (GO:0045824)|response to cytokine (GO:0034097)		metal ion binding (GO:0046872)			kidney(5)|large_intestine(3)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	17						ATTTCCGTAGCAAAAAAGAAA	0.393																																						ENST00000257604.5																			0				kidney(5)|large_intestine(3)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	17						c.e3-1		TRAF-type zinc finger domain containing 1							152	145	148					12																	112572542		2203	4300	6503	SO:0001630	splice_region_variant	10906				negative regulation of innate immune response	intracellular	protein binding|zinc ion binding	g.chr12:112572542C>A	AB007447	CCDS9160.1	12q24.13	2013-01-25			ENSG00000135148	ENSG00000135148			24808	protein-coding gene	gene with protein product		613197				12477932	Standard	NM_006700		Approved	FLN29	uc001ttp.3	O14545	OTTHUMG00000169640	ENST00000257604.5:c.48-1C>A	12.37:g.112572542C>A						TRAFD1_ENST00000412615.2_Splice_Site_p.C16_splice	p.C16_splice	NM_001143906.1	NP_001137378.1	O14545	TRAD1_HUMAN			3	665	+			16					A8K5L6|B4DI89	Splice_Site	SNP	ENST00000257604.5	37	c.47_splice	CCDS9160.1	.	.	.	.	.	.	.	.	.	.	C	17.25	3.342226	0.61073	.	.	ENSG00000135148	ENST00000412615;ENST00000549358;ENST00000257604;ENST00000552896	.	.	.	5.37	3.55	0.40652	.	0.155625	0.56097	D	0.000025	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.4175	0.32681	0.0:0.7566:0.0:0.2434	.	.	.	.	X	16	.	.	C	+	3	2	TRAFD1	111056925	1.000000	0.71417	1.000000	0.80357	0.646000	0.38490	1.966000	0.40481	0.653000	0.30826	-0.266000	0.10368	TGC		0.393	TRAFD1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405214.1	NM_006700	Nonsense_Mutation	4	105	1	0	0.00909568	0.150653	0.00989155	4	105					A	112572542	C	A	112572542	5	1	96	1	0	0	0	0	0	0	1	0	16444	724	25	5	54	5	TRAFD1	12	112572542	Splice_Site	SNP	C	TCGA-EJ-7784-01A-11D-2114-08	101025771	112572542	21279353	54	5429											
EP400	57634	broad.mit.edu	37	chr12	132547141	132547141	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagcagcagcagcagcaacaGcagcagcagcaacagacgac	16	0	11	14	1	0	1	0	0	0	1	0	2	0	1	0	0	11	9	0	0	2	0			TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	53036395-5404-42c1-8e8b-8991d627f33f	g.chr12:132547141G>A	ENST00000333577.4	+	48	8446	c.8337G>A	c.(8335-8337)caG>caA	p.Q2779Q	EP400_ENST00000332482.4_Silent_p.Q2706Q|EP400_ENST00000389562.2_Silent_p.Q2742Q|EP400_ENST00000330386.6_Silent_p.Q2662Q|EP400_ENST00000389561.2_Silent_p.Q2743Q			Q96L91	EP400_HUMAN	E1A binding protein p400	2779	Interaction with ZNF42. {ECO:0000250}.|Poly-Gln.				chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)	p.Q2742Q(2)		NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		agcagcaacagcagcagcagc	0.597																																						ENST00000333577.4																			2	Substitution - coding silent(2)	p.Q2742Q(2)	kidney(2)	NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161						c.(8335-8337)caG>caA		E1A binding protein p400							52	42	46					12																	132547141		2203	4300	6503	SO:0001819	synonymous_variant	57634				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	g.chr12:132547141G>A	U80743	CCDS31929.1, CCDS31929.2	12q24.33	2008-02-01	2002-02-05	2002-02-08		ENSG00000183495			11958	protein-coding gene	gene with protein product		606265	"trinucleotide repeat containing 12"	TNRC12		9225980, 11509179	Standard	NM_015409		Approved	CAGH32, KIAA1498, P400, KIAA1818, DKFZP434I225	uc001ujn.3	Q96L91		ENST00000333577.4:c.8337G>A	12.37:g.132547141G>A						EP400_ENST00000389561.2_Silent_p.Q2743Q|EP400_ENST00000330386.6_Silent_p.Q2662Q|EP400_ENST00000389562.2_Silent_p.Q2742Q|EP400_ENST00000332482.4_Silent_p.Q2706Q	p.Q2779Q			Q96L91	EP400_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)	48	8446	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)	2779			Interaction with ZNF42 (By similarity).|Poly-Gln.		O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	Silent	SNP	ENST00000333577.4	37	c.8337G>A																																																																																					0.597	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015409		3	46	0	0	0	0.150653	0	3	46					A	132547141	G	A	132547141	2	1	96	1	0	0	0	0	0	0	0	1	5149	962	34	3		3	EP400	12	132547141	Silent	SNP	G	TCGA-EJ-7784-01A-11D-2114-08	19974599	132547141	1304754	55	5430											
LATS2	26524	broad.mit.edu	37	chr13	21562482	21562483	+	In_Frame_Ins	INS	-	-	GGGGCG																															cgtccaagccctccgcagccINSggggcgggggcgggggcggg																								rs56252009|rs550642106	byFrequency	TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	b330d9da-504a-4dfe-b696-ceebe0369ede	g.chr13:21562482_21562483insGGGGCG	ENST00000382592.4	-	4	1841_1842	c.1436_1437insCGCCCC	c.(1435-1437)ccg>ccCGCCCCg	p.479_479P>PAP	LATS2_ENST00000472754.1_5'Flank|LATS2_ENST00000542899.1_In_Frame_Ins_p.479_479P>PAP	NM_014572.2	NP_055387.2			large tumor suppressor kinase 2									p.P473_A480delPAPAPAPA(2)|p.P479_A480insGR(1)		breast(4)|central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(2)	45		all_cancers(29;4.74e-22)|all_epithelial(30;1.45e-18)|all_lung(29;4.69e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)		all cancers(112;0.000781)|Epithelial(112;0.00144)|OV - Ovarian serous cystadenocarcinoma(117;0.0183)|Lung(94;0.0375)|LUSC - Lung squamous cell carcinoma(192;0.104)		CCTCCGCAgccggggcgggggc	0.787														1274	0.254393	0.1566	0.3429	5008	,	,		6446	0.2133		0.338	False		,,,				2504	0.2802					ENST00000382592.4																			3	Deletion - In frame(2)|Insertion - In frame(1)	p.P473_A480delPAPAPAPA(2)|p.P479_A480insGR(1)	breast(2)|pancreas(1)	breast(4)|central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(2)	45						c.(1435-1437)cgc>cCGCCCCgc		large tumor suppressor kinase 2				22,194		10,2,96						-10.2	0		dbSNP_119	2	119,543		56,7,268	no	coding	LATS2	NM_014572.2		66,9,364	A1A1,A1R,RR		17.9758,10.1852,16.0592				141,737				SO:0001652	inframe_insertion	26524				cell division|G1/S transition of mitotic cell cycle|hippo signaling cascade|hormone-mediated signaling pathway|intracellular protein kinase cascade|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity	microtubule organizing center|nucleus|spindle pole	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr13:21562482_21562483insGGGGCG	AB028019	CCDS9294.1	13q11-q12	2013-04-25	2013-04-25		ENSG00000150457	ENSG00000150457			6515	protein-coding gene	gene with protein product		604861	"LATS (large tumor suppressor, Drosophila) homolog 2", "LATS, large tumor suppressor, homolog 2 (Drosophila)"			10673337	Standard	NM_014572		Approved		uc001unr.4	Q9NRM7	OTTHUMG00000016531	ENST00000382592.4:c.1431_1436dupCGCCCC	13.37:g.21562483_21562488dupGGGGCG	ENSP00000372035:p.AlaPro479dup					LATS2_ENST00000542899.1_In_Frame_Ins_p.478_479insPP	p.478_479insPP	NM_014572.2	NP_055387.2	Q9NRM7	LATS2_HUMAN		all cancers(112;0.000781)|Epithelial(112;0.00144)|OV - Ovarian serous cystadenocarcinoma(117;0.0183)|Lung(94;0.0375)|LUSC - Lung squamous cell carcinoma(192;0.104)	4	1841_1842	-		all_cancers(29;4.74e-22)|all_epithelial(30;1.45e-18)|all_lung(29;4.69e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)	478						In_Frame_Ins	INS	ENST00000382592.4	37	c.1436_1437insCGCCCC	CCDS9294.1																																																																																				0.787	LATS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044102.1			6	5						6	5	---	---	---	---	GGGGCG	21562483	-	GGGGCG	21562482	7	5	96	1	0	1	1	0	0	0	0	0	8647	639	23	0	1849	0	LATS2	13	21562482	In_Frame_Ins	INS	-	TCGA-EJ-7784-01A-11D-2114-08		21562482	93607396	56	5431											
SUPT16H	11198	broad.mit.edu	37	chr14	21829070	21829070	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatttgggcgaatgtatagaTctttcagtttcggattactc	9	17	9	6	2	2	1	1	0	1	1	4	3	2	2	0	2	1	2	0	2	5	7			TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	b330d9da-504a-4dfe-b696-ceebe0369ede	g.chr14:21829070T>A	ENST00000216297.2	-	17	2329	c.1991A>T	c.(1990-1992)gAt>gTt	p.D664V		NM_007192.3	NP_009123.1	Q9Y5B9	SP16H_HUMAN	suppressor of Ty 16 homolog (S. cerevisiae)	664					DNA repair (GO:0006281)|DNA replication (GO:0006260)|gene expression (GO:0010467)|nucleosome disassembly (GO:0006337)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|positive regulation of viral transcription (GO:0050434)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_cancers(95;0.00115)		Epithelial(56;1.62e-06)|all cancers(55;1.49e-05)	GBM - Glioblastoma multiforme(265;0.0159)		AATGTATAGATCTTTCAGTTT	0.418																																						ENST00000216297.2																			0				breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27						c.(1990-1992)gAt>gTt		suppressor of Ty 16 homolog (S. cerevisiae)							119	113	115					14																	21829070		2203	4300	6503	SO:0001583	missense	11198				DNA repair|DNA replication|nucleosome disassembly|positive regulation of transcription elongation, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	chromosome|nucleoplasm	GTP binding	g.chr14:21829070T>A	AF152961	CCDS9569.1	14q11.1	2008-08-13	2001-11-28		ENSG00000092201	ENSG00000092201			11465	protein-coding gene	gene with protein product	"facilitates chromatin remodeling 140 kDa subunit"	605012	"suppressor of Ty (S.cerevisiae) 16 homolog"			9489704, 11239457	Standard	NM_007192		Approved	FACT, FACTP140, SPT16/CDC68, FLJ14010, FLJ10857, CDC68	uc001wao.2	Q9Y5B9	OTTHUMG00000029685	ENST00000216297.2:c.1991A>T	14.37:g.21829070T>A	ENSP00000216297:p.Asp664Val						p.D664V	NM_007192.3	NP_009123.1	Q9Y5B9	SP16H_HUMAN	Epithelial(56;1.62e-06)|all cancers(55;1.49e-05)	GBM - Glioblastoma multiforme(265;0.0159)	17	2329	-	all_cancers(95;0.00115)		664					Q6GMT8|Q6P2F1|Q6PJM1|Q9NRX0	Missense_Mutation	SNP	ENST00000216297.2	37	c.1991A>T	CCDS9569.1	.	.	.	.	.	.	.	.	.	.	T	25.9	4.682938	0.88542	.	.	ENSG00000092201	ENST00000216297	.	.	.	5.54	5.54	0.83059	FACT complex subunit Spt16p/Cdc68p (1);	0.000000	0.85682	D	0.000000	D	0.85605	0.5735	M	0.92555	3.32	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.89130	0.3509	9	0.87932	D	0	-21.6738	14.654	0.68820	0.0:0.0:0.0:1.0	.	664	Q9Y5B9	SP16H_HUMAN	V	664	.	ENSP00000216297:D664V	D	-	2	0	SUPT16H	20898910	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.221000	0.78016	2.111000	0.64477	0.402000	0.26972	GAT		0.418	SUPT16H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000074025.2			7	55	0	0	0	0.27861	0	7	55					A	21829070	T	A	21829070	3	1	96	1	0	0	0	0	1	0	0	0	15393	1435	50	5	1192	5	SUPT16H	14	21829070	Missense_Mutation	SNP	T	TCGA-EJ-7784-01A-11D-2114-08		21829070	85520470	57	5432											
LRP10	26020	broad.mit.edu	37	chr14	23344794	23344794	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggatatacacacctagccTcagtctcccacccccagtcc	9	8	5	19	0	2	0	1	0	1	0	4	1	3	1	6	1	2	0	6	1	3	3			TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	b330d9da-504a-4dfe-b696-ceebe0369ede	g.chr14:23344794T>C	ENST00000359591.4	+	5	1328	c.637T>C	c.(637-639)Tca>Cca	p.S213P	LRP10_ENST00000546834.1_Missense_Mutation_p.S213P	NM_014045.3	NP_054764.2	Q7Z4F1	LRP10_HUMAN	low density lipoprotein receptor-related protein 10	213	CUB 2. {ECO:0000255|PROSITE- ProRule:PRU00059}.				endocytosis (GO:0006897)	coated pit (GO:0005905)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(7)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(2)	32	all_cancers(95;4.69e-05)			GBM - Glioblastoma multiforme(265;0.00549)		ACACCTAGCCTCAGTCTCCCA	0.627																																						ENST00000359591.4																			0				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(7)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(2)	32						c.(637-639)Tca>Cca		low density lipoprotein receptor-related protein 10							101	91	94					14																	23344794		2203	4300	6503	SO:0001583	missense	26020				endocytosis	coated pit|integral to membrane		g.chr14:23344794T>C	AF131760	CCDS9578.1	14q11.2	2013-05-29			ENSG00000197324	ENSG00000197324		"Low density lipoprotein receptors"	14553	protein-coding gene	gene with protein product		609921				11123907	Standard	XM_005267510		Approved	DKFZP564C1940, MGC8675, LRP9, MST087, MSTP087	uc001whd.3	Q7Z4F1	OTTHUMG00000028705	ENST00000359591.4:c.637T>C	14.37:g.23344794T>C	ENSP00000352601:p.Ser213Pro					LRP10_ENST00000546834.1_Missense_Mutation_p.S213P	p.S213P	NM_014045.3	NP_054764.2	Q7Z4F1	LRP10_HUMAN		GBM - Glioblastoma multiforme(265;0.00549)	5	1328	+	all_cancers(95;4.69e-05)		213			CUB 2.		A8K4R5|D3DS31|O95882|Q14CK7|Q86T02|Q8NCZ4|Q9HC42|Q9UG33	Missense_Mutation	SNP	ENST00000359591.4	37	c.637T>C	CCDS9578.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	3.470|3.470	-0.108054|-0.108054	0.06924|0.06924	.|.	.|.	ENSG00000197324|ENSG00000197324	ENST00000551466|ENST00000359591;ENST00000546834	.|T;T	.|0.27557	.|1.66;1.66	5.2|5.2	2.79|2.79	0.32731|0.32731	.|CUB (5);	.|0.361075	.|0.23021	.|N	.|0.052857	T|T	0.13628|0.13628	0.0330|0.0330	N|N	0.10809|0.10809	0.05|0.05	0.09310|0.09310	N|N	1|1	.|B	.|0.17268	.|0.021	.|B	.|0.20767	.|0.031	T|T	0.16424|0.16424	-1.0403|-1.0403	5|10	.|0.26408	.|T	.|0.33	-7.6918|-7.6918	4.6223|4.6223	0.12461|0.12461	0.0:0.1589:0.1802:0.6609|0.0:0.1589:0.1802:0.6609	.|.	.|213	.|Q7Z4F1	.|LRP10_HUMAN	P|P	114|213	.|ENSP00000352601:S213P;ENSP00000447559:S213P	.|ENSP00000352601:S213P	L|S	+|+	2|1	0|0	LRP10|LRP10	22414634|22414634	0.000000|0.000000	0.05858|0.05858	0.894000|0.894000	0.35097|0.35097	0.134000|0.134000	0.20937|0.20937	0.120000|0.120000	0.15647|0.15647	0.986000|0.986000	0.38683|0.38683	0.533000|0.533000	0.62120|0.62120	CTC|TCA		0.627	LRP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071663.3			3	189	0	0	0	0.150653	0	3	189					C	23344794	T	C	23344794	3	2	96	1	0	0	0	0	1	0	0	0	8952	1551	54	4	655	4	LRP10	14	23344794	Missense_Mutation	SNP	T	TCGA-EJ-7784-01A-11D-2114-08	1515724	23344794	84004746	58	5433											
UBR1	197131	broad.mit.edu	37	chr15	43242542	43242542	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ggctttaccttcaaccaggaCcactcggcattctctgattc	8	12	7	14	1	2	1	1	1	1	0	5	2	2	2	3	3	2	2	3	3	2	5			TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	b330d9da-504a-4dfe-b696-ceebe0369ede	g.chr15:43242542C>G	ENST00000290650.4	-	46	5104	c.5026G>C	c.(5026-5028)Gtc>Ctc	p.V1676L	UBR1_ENST00000382177.2_3'UTR	NM_174916.2	NP_777576.1	Q8IWV7	UBR1_HUMAN	ubiquitin protein ligase E3 component n-recognin 1	1676					cellular response to leucine (GO:0071233)|negative regulation of TOR signaling (GO:0032007)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|proteasome complex (GO:0000502)|ubiquitin ligase complex (GO:0000151)	leucine binding (GO:0070728)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(2)|endometrium(2)|kidney(7)|large_intestine(12)|lung(25)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	58		all_cancers(109;4.32e-15)|all_epithelial(112;4.05e-13)|Lung NSC(122;1.75e-08)|all_lung(180;2e-07)|Melanoma(134;0.0179)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;4.08e-07)|COAD - Colon adenocarcinoma(120;0.185)|Colorectal(105;0.214)		TCAACCAGGACCACTCGGCAT	0.403																																						ENST00000290650.4																			0				NS(2)|endometrium(2)|kidney(7)|large_intestine(12)|lung(25)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	58						c.(5026-5028)Gtc>Ctc		ubiquitin protein ligase E3 component n-recognin 1							68	69	69					15																	43242542		2203	4299	6502	SO:0001583	missense	197131				cellular response to leucine|negative regulation of TOR signaling cascade	cytosol	leucine binding|zinc ion binding	g.chr15:43242542C>G		CCDS10091.1	15q13	2008-06-23			ENSG00000159459	ENSG00000159459		"Ubiquitin protein ligase E3 component n-recognins"	16808	protein-coding gene	gene with protein product		605981				9653112	Standard	NM_174916		Approved		uc001zqq.3	Q8IWV7	OTTHUMG00000130702	ENST00000290650.4:c.5026G>C	15.37:g.43242542C>G	ENSP00000290650:p.Val1676Leu					UBR1_ENST00000382177.2_3'UTR	p.V1676L	NM_174916.2	NP_777576.1	Q8IWV7	UBR1_HUMAN		GBM - Glioblastoma multiforme(94;4.08e-07)|COAD - Colon adenocarcinoma(120;0.185)|Colorectal(105;0.214)	46	5104	-		all_cancers(109;4.32e-15)|all_epithelial(112;4.05e-13)|Lung NSC(122;1.75e-08)|all_lung(180;2e-07)|Melanoma(134;0.0179)|Colorectal(260;0.215)	1676					O60708|O75492|Q14D45|Q68DN9|Q8IWY6|Q96JY4	Missense_Mutation	SNP	ENST00000290650.4	37	c.5026G>C	CCDS10091.1	.	.	.	.	.	.	.	.	.	.	C	13.82	2.352137	0.41700	.	.	ENSG00000159459	ENST00000290650	T	0.34667	1.35	5.4	5.4	0.78164	.	0.000000	0.85682	D	0.000000	T	0.31949	0.0813	N	0.02202	-0.64	0.80722	D	1	D	0.76494	0.999	D	0.76071	0.987	T	0.15549	-1.0433	10	0.02654	T	1	-0.8198	19.3691	0.94477	0.0:1.0:0.0:0.0	.	1676	Q8IWV7	UBR1_HUMAN	L	1676	ENSP00000290650:V1676L	ENSP00000290650:V1676L	V	-	1	0	UBR1	41029834	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.998000	0.76277	2.822000	0.97130	0.650000	0.86243	GTC		0.403	UBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253202.1	NM_174916		4	94	0	0	0	0.217242	0	4	94					G	43242542	C	G	43242542	3	3	96	1	0	0	0	0	1	0	0	0	16898	507	18	5	231	5	UBR1	15	43242542	Missense_Mutation	SNP	C	TCGA-EJ-7784-01A-11D-2114-08		43242542	59288850	59	5434											
ATP8B4	79895	broad.mit.edu	37	chr15	50212487	50212487	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atatagcccagctattcgttCatccctctcttctgtggcag	7	14	7	13	1	3	0	1	0	2	0	6	0	4	0	2	1	2	3	2	1	3	6			TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	b330d9da-504a-4dfe-b696-ceebe0369ede	g.chr15:50212487C>A	ENST00000284509.6	-	18	2020	c.1879G>T	c.(1879-1881)Gaa>Taa	p.E627*	ATP8B4_ENST00000559829.1_Nonsense_Mutation_p.E627*	NM_024837.2	NP_079113.2	Q8TF62	AT8B4_HUMAN	ATPase, class I, type 8B, member 4	627						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1)	73		all_lung(180;0.00183)		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)		GCTATTCGTTCATCCCTCTCT	0.413																																						ENST00000284509.6																			0				breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1)	73						c.(1879-1881)Gaa>Taa		ATPase, class I, type 8B, member 4							196	181	186					15																	50212487		2196	4295	6491	SO:0001587	stop_gained	79895				ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr15:50212487C>A	AB075819	CCDS32238.1	15q21.2	2010-04-20	2007-09-19		ENSG00000104043	ENSG00000104043		"ATPases / P-type"	13536	protein-coding gene	gene with protein product		609123	"ATPase, Class I, type 8B, member 4"			11015572	Standard	NM_024837		Approved	ATPIM, KIAA1939	uc001zxu.3	Q8TF62		ENST00000284509.6:c.1879G>T	15.37:g.50212487C>A	ENSP00000284509:p.Glu627*					ATP8B4_ENST00000559829.1_Nonsense_Mutation_p.E627*	p.E627*	NM_024837.2	NP_079113.2	Q8TF62	AT8B4_HUMAN		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)	18	2020	-		all_lung(180;0.00183)	627					Q9H727	Nonsense_Mutation	SNP	ENST00000284509.6	37	c.1879G>T	CCDS32238.1	.	.	.	.	.	.	.	.	.	.	C	37	6.028551	0.97216	.	.	ENSG00000104043	ENST00000284509	.	.	.	5.49	4.52	0.55395	.	0.301292	0.34555	N	0.003879	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.35671	T	0.21	.	13.4632	0.61239	0.0:0.8416:0.1584:0.0	.	.	.	.	X	627	.	ENSP00000284509:E627X	E	-	1	0	ATP8B4	47999779	0.998000	0.40836	1.000000	0.80357	0.803000	0.45373	3.720000	0.54933	2.587000	0.87381	0.561000	0.74099	GAA		0.413	ATP8B4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418100.1	NM_024837		4	176	1	0	0.014758	0.184627	0.0158512	4	176					A	50212487	C	A	50212487	4	1	96	1	0	0	0	0	0	1	0	0	1197	835	29	5	1743	5	ATP8B4	15	50212487	Nonsense_Mutation	SNP	C	TCGA-EJ-7784-01A-11D-2114-08	6969945	50212487	52318905	60	5435											
ITGA11	22801	broad.mit.edu	37	chr15	68620499	68620499	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcagaggaaggcggccaggCaggtggcatccctgccactg	9	4	16	12	1	0	1	0	0	0	1	1	2	1	2	3	6	2	3	3	6	1	0			TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	b330d9da-504a-4dfe-b696-ceebe0369ede	g.chr15:68620499C>A	ENST00000315757.7	-	16	2089	c.2003G>T	c.(2002-2004)tGc>tTc	p.C668F	ITGA11_ENST00000423218.2_Missense_Mutation_p.C668F	NM_001004439.1	NP_001004439.1	Q9UKX5	ITA11_HUMAN	integrin, alpha 11	668					cell adhesion (GO:0007155)|cell adhesion mediated by integrin (GO:0033627)|cell-matrix adhesion (GO:0007160)|collagen-activated signaling pathway (GO:0038065)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|muscle organ development (GO:0007517)|osteoblast differentiation (GO:0001649)|substrate-dependent cell migration (GO:0006929)	focal adhesion (GO:0005925)|integrin alpha11-beta1 complex (GO:0034681)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)	collagen binding (GO:0005518)|collagen binding involved in cell-matrix adhesion (GO:0098639)|collagen receptor activity (GO:0038064)|metal ion binding (GO:0046872)	p.C668F(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(6)|lung(22)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	52						GGCGGCCAGGCAGGTGGCATC	0.577																																						ENST00000423218.2																			1	Substitution - Missense(1)	p.C668F(1)	urinary_tract(1)	NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(6)|lung(22)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	52						c.(2002-2004)tGc>tTc		integrin, alpha 11	Tirofiban(DB00775)						62	70	67					15																	68620499		1992	4157	6149	SO:0001583	missense	22801				cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development	integrin complex	collagen binding|receptor activity	g.chr15:68620499C>A	AF109681	CCDS45291.1	15q22.3-q23	2010-03-23				ENSG00000137809		"Integrins"	6136	protein-coding gene	gene with protein product		604789				10486209	Standard	NM_001004439		Approved	HsT18964	uc002ari.3	Q9UKX5		ENST00000315757.7:c.2003G>T	15.37:g.68620499C>A	ENSP00000327290:p.Cys668Phe					ITGA11_ENST00000315757.7_Missense_Mutation_p.C668F	p.C668F			Q9UKX5	ITA11_HUMAN			16	2098	-			668					J3KQM2|Q8WYI8|Q9UKQ1	Missense_Mutation	SNP	ENST00000315757.7	37	c.2003G>T	CCDS45291.1	.	.	.	.	.	.	.	.	.	.	C	24.7	4.563945	0.86335	.	.	ENSG00000137809	ENST00000315757;ENST00000423218;ENST00000535491	T;T	0.61392	0.11;0.11	5.69	5.69	0.88448	Integrin alpha-2 (1);	0.000000	0.85682	D	0.000000	T	0.77246	0.4102	M	0.75264	2.295	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.78254	-0.2275	10	0.62326	D	0.03	.	18.803	0.92025	0.0:1.0:0.0:0.0	.	668;668	A8K8T0;Q9UKX5	.;ITA11_HUMAN	F	668;668;303	ENSP00000327290:C668F;ENSP00000403392:C668F	ENSP00000327290:C668F	C	-	2	0	ITGA11	66407553	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.211000	0.77933	2.692000	0.91855	0.555000	0.69702	TGC		0.577	ITGA11-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		NM_012211		5	68	1	0	4.096e-09	0.217242	4.68884e-09	5	68					A	68620499	C	A	68620499	3	1	96	1	0	0	0	0	1	0	0	0	7874	710	25	5	1623	5	ITGA11	15	68620499	Missense_Mutation	SNP	C	TCGA-EJ-7784-01A-11D-2114-08	18408012	68620499	33910893	61	5436											
PDE8A	5151	broad.mit.edu	37	chr15	85525510	85525510	+	Frame_Shift_Del	DEL	G	G	-																															ctcccgcagggccagaagacGgccgccttgccccggacccg																										TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	b330d9da-504a-4dfe-b696-ceebe0369ede	g.chr15:85525510delG	ENST00000310298.4	+	2	369	c.117delG	c.(115-117)acgfs	p.T39fs	PDE8A_ENST00000394553.1_Frame_Shift_Del_p.T39fs|PDE8A_ENST00000339708.5_Frame_Shift_Del_p.T39fs|PDE8A_ENST00000557957.1_Intron			O60658	PDE8A_HUMAN	phosphodiesterase 8A	39					cAMP catabolic process (GO:0006198)|cyclic nucleotide metabolic process (GO:0009187)|phosphorelay signal transduction system (GO:0000160)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	25	Colorectal(223;0.227)		BRCA - Breast invasive adenocarcinoma(143;0.0608)		Caffeine(DB00201)|Ketotifen(DB00920)	GCCAGAAGACGGCCGCCTTGC	0.766																																						ENST00000310298.4																			0				NS(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	25						c.(115-117)acfs		phosphodiesterase 8A							2	3	2					15																	85525510		775	1874	2649	SO:0001589	frameshift_variant	5151				cyclic nucleotide metabolic process|regulation of transcription, DNA-dependent	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|two-component response regulator activity	g.chr15:85525510delG	AF056490	CCDS10336.1, CCDS10337.1, CCDS58397.1	15q25.3	2008-05-14			ENSG00000073417	ENSG00000073417	3.1.4.17	"Phosphodiesterases"	8793	protein-coding gene	gene with protein product		602972				9618252	Standard	NM_001243137		Approved	HsT19550	uc002blh.3	O60658	OTTHUMG00000148670	ENST00000310298.4:c.117delG	15.37:g.85525510delG	ENSP00000311453:p.Thr39fs					PDE8A_ENST00000339708.5_Frame_Shift_Del_p.T39fs|PDE8A_ENST00000557957.1_Intron|PDE8A_ENST00000394553.1_Frame_Shift_Del_p.T39fs	p.T39fs			O60658	PDE8A_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0608)		2	369	+	Colorectal(223;0.227)		39					B3KXE6|H0YMZ7|Q6P9H3|Q969I1|Q96PC9|Q96PD0|Q96PD1|Q96T71|Q9UMB7|Q9UMC3	Frame_Shift_Del	DEL	ENST00000310298.4	37	c.117delG	CCDS10336.1																																																																																				0.766	PDE8A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000309018.1	NM_002605		2	4						2	4	---	---	---	---	-	85525510	G	-	85525510	7	5	96	1	0	1	0	1	0	0	0	0	11653	1103	39	0	119	0	PDE8A	15	85525510	Frame_Shift_Del	DEL	G	TCGA-EJ-7784-01A-11D-2114-08	16905011	85525510	17005882	62	5437											
PKD1	5310	broad.mit.edu	37	chr16	2165391	2165391	+	Frame_Shift_Del	DEL	G	G	-																															ccacacaccgagtactgcgcGgggggccccgcgggaacgga																										TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	b330d9da-504a-4dfe-b696-ceebe0369ede	g.chr16:2165391delG	ENST00000262304.4	-	10	2293	c.2085delC	c.(2083-2085)cccfs	p.P695fs	RP11-304L19.4_ENST00000568795.1_RNA|PKD1_ENST00000423118.1_Frame_Shift_Del_p.P695fs	NM_001009944.2	NP_001009944	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	695					anatomical structure morphogenesis (GO:0009653)|branching morphogenesis of an epithelial tube (GO:0048754)|calcium ion transmembrane transport (GO:0070588)|calcium-independent cell-matrix adhesion (GO:0007161)|cartilage condensation (GO:0001502)|cartilage development (GO:0051216)|cation transmembrane transport (GO:0098655)|cell cycle arrest (GO:0007050)|cell-matrix adhesion (GO:0007160)|cytoplasmic sequestering of transcription factor (GO:0042994)|detection of mechanical stimulus (GO:0050982)|digestive tract development (GO:0048565)|embryonic placenta development (GO:0001892)|genitalia development (GO:0048806)|heart development (GO:0007507)|homophilic cell adhesion (GO:0007156)|in utero embryonic development (GO:0001701)|JAK-STAT cascade (GO:0007259)|kidney development (GO:0001822)|liver development (GO:0001889)|lung epithelium development (GO:0060428)|mesonephric duct development (GO:0072177)|mesonephric tubule development (GO:0072164)|metanephric ascending thin limb development (GO:0072218)|metanephric collecting duct development (GO:0072205)|metanephric distal tubule morphogenesis (GO:0072287)|metanephric proximal tubule development (GO:0072237)|neural tube development (GO:0021915)|neuropeptide signaling pathway (GO:0007218)|nitrogen compound metabolic process (GO:0006807)|peptidyl-serine phosphorylation (GO:0018105)|placenta blood vessel development (GO:0060674)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of protein binding (GO:0032092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein export from nucleus (GO:0006611)|regulation of mitotic spindle organization (GO:0060236)|regulation of proteasomal protein catabolic process (GO:0061136)|response to fluid shear stress (GO:0034405)|skin development (GO:0043588)|spinal cord development (GO:0021510)	basolateral plasma membrane (GO:0016323)|cilium (GO:0005929)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|motile primary cilium (GO:0031512)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|polycystin complex (GO:0002133)	calcium channel activity (GO:0005262)|carbohydrate binding (GO:0030246)|cation channel activity (GO:0005261)|ion channel binding (GO:0044325)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						AGTACTGCGCGGGGGGCCCCG	0.677																																						ENST00000262304.4																			0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72	GRCh37	CD010642	PKD1	D		c.(2083-2085)ccfs		polycystic kidney disease 1 (autosomal dominant)							3	4	4					16																	2165391		1587	3415	5002	SO:0001589	frameshift_variant	5310				calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding	g.chr16:2165391delG	L33243	CCDS32369.1, CCDS45385.1	16p13.3	2014-01-28			ENSG00000008710	ENSG00000008710		"Voltage-gated ion channels / Transient receptor potential cation channels"	9008	protein-coding gene	gene with protein product	"polycystin 1", "transient receptor potential cation channel, subfamily P, member 1"	601313					Standard	NM_001009944		Approved	PBP, Pc-1, TRPP1	uc002cos.1	P98161	OTTHUMG00000155795	ENST00000262304.4:c.2085delC	16.37:g.2165391delG	ENSP00000262304:p.Pro695fs					PKD1_ENST00000423118.1_Frame_Shift_Del_p.P695fs	p.P695fs	NM_001009944.2	NP_001009944.2	P98161	PKD1_HUMAN			10	2293	-			695					Q15140|Q15141	Frame_Shift_Del	DEL	ENST00000262304.4	37	c.2085delC	CCDS32369.1																																																																																				0.677	PKD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341688.1			2	4						2	4	---	---	---	---	-	2165391	G	-	2165391	7	5	96	1	0	1	0	1	0	0	0	0	11963	1103	39	0	10974	0	PKD1	16	2165391	Frame_Shift_Del	DEL	G	TCGA-EJ-7784-01A-11D-2114-08		2165391	88189362	63	5438											
MEFV	4210	broad.mit.edu	37	chr16	3306386	3306386	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caggacctgcagggtgagctGcacggcgtactcttccccat	7	8	12	14	2	1	1	0	1	1	0	2	2	2	2	3	3	4	4	3	3	1	2			TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	b330d9da-504a-4dfe-b696-ceebe0369ede	g.chr16:3306386G>A	ENST00000219596.1	-	1	241	c.202C>T	c.(202-204)Cag>Tag	p.Q68*	MEFV_ENST00000541159.1_Nonsense_Mutation_p.Q68*|MEFV_ENST00000536379.1_Nonsense_Mutation_p.Q68*|MEFV_ENST00000339854.4_Nonsense_Mutation_p.Q68*	NM_000243.2	NP_000234.1	O15553	MEFV_HUMAN	Mediterranean fever	68	DAPIN. {ECO:0000255|PROSITE- ProRule:PRU00061}.				inflammatory response (GO:0006954)|innate immune response (GO:0045087)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 beta production (GO:0032691)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of macrophage inflammatory protein 1 alpha production (GO:0071641)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of cysteine-type endopeptidase activity (GO:2001056)	cell projection (GO:0042995)|cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|nucleus (GO:0005634)	actin binding (GO:0003779)|zinc ion binding (GO:0008270)			NS(2)|biliary_tract(1)|breast(5)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(3)|prostate(1)|skin(6)	50						AGGGTGAGCTGCACGGCGTAC	0.657																																						ENST00000219596.1																			0				NS(2)|biliary_tract(1)|breast(5)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(3)|prostate(1)|skin(6)	50						c.(202-204)Cag>Tag		Mediterranean fever	Colchicine(DB01394)						60	60	60					16																	3306386		2197	4300	6497	SO:0001587	stop_gained	4210				inflammatory response	cytoplasm|microtubule|microtubule associated complex|nucleus	actin binding|zinc ion binding	g.chr16:3306386G>A	AF018080	CCDS10498.1, CCDS55981.1	16p13.3	2014-09-17			ENSG00000103313	ENSG00000103313		"Tripartite motif containing / Tripartite motif containing"	6998	protein-coding gene	gene with protein product	"pyrin"	608107		MEF		9288094	Standard	NM_000243		Approved	FMF, TRIM20	uc002cun.1	O15553	OTTHUMG00000129324	ENST00000219596.1:c.202C>T	16.37:g.3306386G>A	ENSP00000219596:p.Gln68*					MEFV_ENST00000339854.4_Nonsense_Mutation_p.Q68*|MEFV_ENST00000536379.1_Nonsense_Mutation_p.Q68*|MEFV_ENST00000541159.1_Nonsense_Mutation_p.Q68*	p.Q68*	NM_000243.2	NP_000234.1	O15553	MEFV_HUMAN			1	241	-			68			DAPIN.		D3DUC0|F5H0Q3|Q3MJ84|Q96PN4|Q96PN5	Nonsense_Mutation	SNP	ENST00000219596.1	37	c.202C>T	CCDS10498.1	.	.	.	.	.	.	.	.	.	.	G	17.92	3.506862	0.64410	.	.	ENSG00000103313	ENST00000545159;ENST00000219596;ENST00000339854;ENST00000541159;ENST00000536379;ENST00000534868	.	.	.	5.98	2.65	0.31530	.	1.408930	0.04649	N	0.406848	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.24483	T	0.36	-2.4707	11.5104	0.50490	0.0:0.0:0.4187:0.5812	.	.	.	.	X	68	.	ENSP00000219596:Q68X	Q	-	1	0	MEFV	3246387	0.000000	0.05858	0.004000	0.12327	0.187000	0.23431	0.351000	0.20096	0.806000	0.34183	0.591000	0.81541	CAG		0.657	MEFV-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251464.1	NM_000243		4	123	0	0	0	0.217242	0	4	123					A	3306386	G	A	3306386	4	1	96	1	0	0	0	0	0	1	0	0	9459	1328	46	3	2183	3	MEFV	16	3306386	Nonsense_Mutation	SNP	G	TCGA-EJ-7784-01A-11D-2114-08	1140995	3306386	87048367	64	5439											
ZNF597	146434	broad.mit.edu	37	chr16	3487540	3487540	+	Splice_Site	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaggcttgccttcctctccTgttgataaaaacaaaagaaa	14	11	6	10	0	2	2	1	1	1	1	4	2	3	2	3	1	2	2	3	1	6	4			TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	b330d9da-504a-4dfe-b696-ceebe0369ede	g.chr16:3487540T>G	ENST00000301744.4	-	4	396		c.e4-2			NM_152457.1	NP_689670.1	Q96LX8	ZN597_HUMAN	zinc finger protein 597						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)|urinary_tract(1)	13						CTTCCTCTCCTGTTGATAAAA	0.418																																						ENST00000301744.4																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)|urinary_tract(1)	13						c.e4-2		zinc finger protein 597							37	38	38					16																	3487540		2197	4300	6497	SO:0001630	splice_region_variant	146434				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:3487540T>G	AK057633	CCDS10505.1	16p13.3	2013-01-08			ENSG00000167981	ENSG00000167981		"Zinc fingers, C2H2-type", "-"	26573	protein-coding gene	gene with protein product		614685				12477932	Standard	NM_152457		Approved	FLJ33071	uc002cvd.3	Q96LX8	OTTHUMG00000129359	ENST00000301744.4:c.161-2A>C	16.37:g.3487540T>G						LA16c-306E5.2_ENST00000575785.1_RNA		NM_152457.1	NP_689670.1	Q96LX8	ZN597_HUMAN			4	396	-									Splice_Site	SNP	ENST00000301744.4	37		CCDS10505.1	.	.	.	.	.	.	.	.	.	.	T	9.966	1.224097	0.22457	.	.	ENSG00000167981	ENST00000301744	.	.	.	4.69	4.69	0.59074	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.7372	0.46133	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	ZNF597	3427541	0.861000	0.29849	1.000000	0.80357	0.816000	0.46133	0.936000	0.28938	2.095000	0.63458	0.523000	0.50628	.		0.418	ZNF597-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251511.2	NM_152457	Intron	13	31	0	0	0	0.457914	0	13	31					G	3487540	T	G	3487540	5	3	96	1	0	0	0	0	0	0	1	0	18024	1594	55	5	1119	5	ZNF597	16	3487540	Splice_Site	SNP	T	TCGA-EJ-7784-01A-11D-2114-08	181154	3487540	86867213	65	5440											
TSNAXIP1	55815	broad.mit.edu	37	chr16	67859051	67859051	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttgccaggtgaccaaactGaggaagaacttggctgagga	12	8	13	8	0	1	4	0	3	1	1	1	6	1	6	2	4	3	1	2	4	3	2	rs367742568		TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	b330d9da-504a-4dfe-b696-ceebe0369ede	g.chr16:67859051G>T	ENST00000388833.3	+	7	905	c.528G>T	c.(526-528)ctG>ctT	p.L176L	TSNAXIP1_ENST00000561639.1_Silent_p.L230L|TSNAXIP1_ENST00000415766.3_Silent_p.L161L|TSNAXIP1_ENST00000562321.1_3'UTR	NM_018430.2	NP_060900.2			translin-associated factor X interacting protein 1											NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|prostate(1)|soft_tissue(1)|urinary_tract(1)	22		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00432)|Epithelial(162;0.0192)|all cancers(182;0.125)		TGACCAAACTGAGGAAGAACT	0.607																																						ENST00000388833.3																			0				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|prostate(1)|soft_tissue(1)|urinary_tract(1)	22						c.(526-528)ctG>ctT		translin-associated factor X interacting protein 1							75	77	77					16																	67859051		2047	4189	6236	SO:0001819	synonymous_variant	55815				cell differentiation|multicellular organismal development|spermatogenesis	perinuclear region of cytoplasm		g.chr16:67859051G>T	AF132730	CCDS10846.2, CCDS73903.1, CCDS73904.1	16q22.2	2008-02-05			ENSG00000102904	ENSG00000102904			18586	protein-coding gene	gene with protein product		607720				12036294	Standard	XM_005256051		Approved	TXI1	uc002euj.3	Q2TAA8	OTTHUMG00000137545	ENST00000388833.3:c.528G>T	16.37:g.67859051G>T						TSNAXIP1_ENST00000415766.3_Silent_p.L161L|TSNAXIP1_ENST00000562321.1_3'UTR|TSNAXIP1_ENST00000561639.1_Silent_p.L230L	p.L176L	NM_018430.2	NP_060900.2	Q2TAA8	TXIP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00432)|Epithelial(162;0.0192)|all cancers(182;0.125)	7	905	+		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)	176						Silent	SNP	ENST00000388833.3	37	c.528G>T	CCDS10846.2																																																																																				0.607	TSNAXIP1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000268876.2	NM_018430		5	72	1	0	0.00116845	0.217242	0.00128677	5	72					T	67859051	G	T	67859051	2	4	96	1	0	0	0	0	0	0	0	1	16629	1277	45	5		5	TSNAXIP1	16	67859051	Silent	SNP	G	TCGA-EJ-7784-01A-11D-2114-08	64371511	67859051	22495702	66	5441											
TUSC5	286753	broad.mit.edu	37	chr17	1183623	1183623	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attacctcatcctggccgtcGtcgcctgcttctgccccgtc	3	12	8	18	4	2	0	1	0	1	0	6	0	3	0	6	1	3	1	6	1	1	2			TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	b330d9da-504a-4dfe-b696-ceebe0369ede	g.chr17:1183623G>A	ENST00000333813.3	+	1	667	c.328G>A	c.(328-330)Gtc>Atc	p.V110I		NM_172367.2	NP_758955.2	Q8IXB3	TUSC5_HUMAN	tumor suppressor candidate 5	110					response to biotic stimulus (GO:0009607)	integral component of membrane (GO:0016021)				endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|prostate(4)|skin(2)	15				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		CCTGGCCGTCGTCGCCTGCTT	0.632																																						ENST00000333813.3																			0				endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|prostate(4)|skin(2)	15						c.(328-330)Gtc>Atc		tumor suppressor candidate 5							84	94	90					17																	1183623		1962	4126	6088	SO:0001583	missense	286753				response to biotic stimulus	integral to membrane		g.chr17:1183623G>A	AB090231	CCDS42225.1	17p13.3	2009-10-16			ENSG00000184811	ENSG00000184811			29592	protein-coding gene	gene with protein product	"located at seventeen p thirteen point three 1", "interferon induced transmembrane protein domain containing 3"	612211				12660825	Standard	NM_172367		Approved	LOST1, IFITMD3	uc002fsi.1	Q8IXB3	OTTHUMG00000132196	ENST00000333813.3:c.328G>A	17.37:g.1183623G>A	ENSP00000329548:p.Val110Ile						p.V110I	NM_172367.2	NP_758955.2	Q8IXB3	TUSC5_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)	1	667	+			110					A6NMK4	Missense_Mutation	SNP	ENST00000333813.3	37	c.328G>A	CCDS42225.1	.	.	.	.	.	.	.	.	.	.	G	11.10	1.539720	0.27563	.	.	ENSG00000184811	ENST00000333813	D	0.86164	-2.08	5.28	-0.51	0.11973	.	0.594141	0.16497	U	0.211856	T	0.61261	0.2333	N	0.02802	-0.49	0.19575	N	0.999967	B	0.28801	0.223	B	0.20184	0.028	T	0.55055	-0.8200	10	0.38643	T	0.18	-9.2616	0.5522	0.00664	0.2633:0.1259:0.337:0.2738	.	110	Q8IXB3	TUSC5_HUMAN	I	110	ENSP00000329548:V110I	ENSP00000329548:V110I	V	+	1	0	TUSC5	1130373	0.953000	0.32496	0.997000	0.53966	0.551000	0.35334	0.457000	0.21875	0.247000	0.21414	0.537000	0.68136	GTC		0.632	TUSC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255249.1	NM_172367		10	127	0	0	0	0.335167	0	10	127					A	1183623	G	A	1183623	3	1	96	1	0	0	0	0	1	0	0	0	16776	1145	40	1	330	1	TUSC5	17	1183623	Missense_Mutation	SNP	G	TCGA-EJ-7784-01A-11D-2114-08		1183623	80011587	67	5442											
MYH10	4628	broad.mit.edu	37	chr17	8397110	8397110	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	cctggcctcctcctcctcctCctgctgctcctgaagactgt	3	12	7	19	0	0	2	0	1	0	1	6	2	6	2	8	1	2	2	8	1	1	0			TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	53036395-5404-42c1-8e8b-8991d627f33f	g.chr17:8397110C>G	ENST00000269243.4	-	30	4195	c.4057G>C	c.(4057-4059)Gag>Cag	p.E1353Q	MYH10_ENST00000379980.4_Missense_Mutation_p.E1369Q|MYH10_ENST00000360416.3_Missense_Mutation_p.E1384Q|MYH10_ENST00000396239.1_Missense_Mutation_p.E1374Q	NM_005964.3	NP_005955.3	P35580	MYH10_HUMAN	myosin, heavy chain 10, non-muscle	1353					actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cardiac myofibril assembly (GO:0055003)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|cerebellar Purkinje cell layer development (GO:0021680)|exocytosis (GO:0006887)|fourth ventricle development (GO:0021592)|in utero embryonic development (GO:0001701)|lateral ventricle development (GO:0021670)|mitotic cytokinesis (GO:0000281)|neuromuscular process controlling balance (GO:0050885)|neuron migration (GO:0001764)|nuclear migration (GO:0007097)|plasma membrane repair (GO:0001778)|regulation of cell shape (GO:0008360)|retina development in camera-type eye (GO:0060041)|substrate-dependent cell migration, cell extension (GO:0006930)|third ventricle development (GO:0021678)|ventricular cardiac muscle cell development (GO:0055015)	actomyosin (GO:0042641)|axon (GO:0030424)|cell cortex (GO:0005938)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|midbody (GO:0030496)|myosin complex (GO:0016459)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle (GO:0005819)|stress fiber (GO:0001725)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1)	52						TCCTCCTCCTCCTGCTGCTCC	0.587																																						ENST00000360416.3																			0				breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1)	52						c.(4150-4152)Gag>Cag		myosin, heavy chain 10, non-muscle							85	77	80					17																	8397110		2203	4300	6503	SO:0001583	missense	4628				actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape	cell cortex|cleavage furrow|midbody|myosin complex|stress fiber	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr17:8397110C>G	M69181	CCDS11144.1, CCDS58515.1, CCDS73984.1	17p13	2011-09-27	2006-09-29		ENSG00000133026	ENSG00000133026		"Myosins / Myosin superfamily : Class II"	7568	protein-coding gene	gene with protein product		160776	"myosin, heavy polypeptide 10, non-muscle"			1860190	Standard	NM_001256012		Approved	NMMHCB	uc002glm.4	P35580	OTTHUMG00000108195	ENST00000269243.4:c.4057G>C	17.37:g.8397110C>G	ENSP00000269243:p.Glu1353Gln					MYH10_ENST00000396239.1_Missense_Mutation_p.E1374Q|MYH10_ENST00000379980.4_Missense_Mutation_p.E1369Q|MYH10_ENST00000269243.4_Missense_Mutation_p.E1353Q	p.E1384Q	NM_001256012.1	NP_001242941.1	P35580	MYH10_HUMAN			32	4288	-			1353					B2RWP9|D3DTS1|F8VTL3|Q12989|Q149N3|Q149N4|Q16087|Q4LE45|Q6PK16|Q9BWG0	Missense_Mutation	SNP	ENST00000269243.4	37	c.4150G>C	CCDS11144.1	.	.	.	.	.	.	.	.	.	.	C	17.88	3.496514	0.64186	.	.	ENSG00000133026	ENST00000269243;ENST00000360416;ENST00000396239;ENST00000379980	D;D;D;D	0.84146	-1.81;-1.81;-1.81;-1.81	5.2	4.22	0.49857	Myosin tail (1);	0.051659	0.85682	D	0.000000	D	0.93203	0.7835	M	0.90759	3.145	0.80722	D	1	D;D;D	0.67145	0.996;0.995;0.996	D;D;D	0.70016	0.967;0.959;0.967	D	0.94653	0.7841	10	0.87932	D	0	.	15.2172	0.73277	0.1418:0.8582:0.0:0.0	.	1362;1384;1353	B2RWP9;F8VTL3;P35580	.;.;MYH10_HUMAN	Q	1353;1384;1374;1369	ENSP00000269243:E1353Q;ENSP00000353590:E1384Q;ENSP00000379539:E1374Q;ENSP00000369315:E1369Q	ENSP00000269243:E1353Q	E	-	1	0	MYH10	8337835	1.000000	0.71417	1.000000	0.80357	0.297000	0.27493	7.609000	0.82925	1.401000	0.46761	-0.181000	0.13052	GAG		0.587	MYH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000227001.2			3	64	0	0	0	0.150653	0	3	64					G	8397110	C	G	8397110	3	3	96	1	0	0	0	0	1	0	0	0	10030	864	30	5	1921	5	MYH10	17	8397110	Missense_Mutation	SNP	C	TCGA-EJ-7784-01A-11D-2114-08	7213487	8397110	72798100	68	5443											
DNAH9	1770	broad.mit.edu	37	chr17	11535997	11535997	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ttcaagcttttgatgatgcaCctggcttggagcatgccttt	7	15	10	9	0	1	2	1	2	0	0	1	3	1	3	2	2	4	4	2	2	1	5			TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	b330d9da-504a-4dfe-b696-ceebe0369ede	g.chr17:11535997C>A	ENST00000262442.4	+	8	1680	c.1612C>A	c.(1612-1614)Cct>Act	p.P538T	DNAH9_ENST00000454412.2_Missense_Mutation_p.P538T	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	538	Stem. {ECO:0000250}.				cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		TGATGATGCACCTGGCTTGGA	0.458																																						ENST00000262442.3																			0				NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290						c.(1612-1614)Cct>Act		dynein, axonemal, heavy chain 9							121	117	119					17																	11535997		2203	4300	6503	SO:0001583	missense	1770				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:11535997C>A	U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"Axonemal dyneins"	2953	protein-coding gene	gene with protein product		603330	"dynein, axonemal, heavy polypeptide 17-like", "dynein, axonemal, heavy polypeptide 9"	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.1612C>A	17.37:g.11535997C>A	ENSP00000262442:p.Pro538Thr					DNAH9_ENST00000454412.2_Missense_Mutation_p.P538T	p.P538T	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)	8	1680	+		Breast(5;0.0122)|all_epithelial(5;0.131)	538			Stem (By similarity).		A2VCQ8|O15064|O95494|Q9NQ28	Missense_Mutation	SNP	ENST00000262442.4	37	c.1612C>A	CCDS11160.1	.	.	.	.	.	.	.	.	.	.	C	0.248	-1.008810	0.02112	.	.	ENSG00000007174	ENST00000262442;ENST00000454412	T;T	0.53640	0.61;0.61	5.18	0.188	0.15114	Dynein heavy chain, domain-1 (1);	4.199780	0.00669	N	0.000623	T	0.33118	0.0852	N	0.25890	0.77	0.24229	N	0.995409	B	0.14012	0.009	B	0.15870	0.014	T	0.11012	-1.0605	10	0.22109	T	0.4	.	4.1496	0.10232	0.0:0.3632:0.2968:0.3399	.	538	Q9NYC9	DYH9_HUMAN	T	538	ENSP00000262442:P538T;ENSP00000414874:P538T	ENSP00000262442:P538T	P	+	1	0	DNAH9	11476722	0.000000	0.05858	0.021000	0.16686	0.098000	0.18820	0.024000	0.13555	0.599000	0.29845	-0.143000	0.13931	CCT		0.458	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2	NM_001372		47	78	1	0	1.56989e-16	0.870114	1.84569e-16	47	78					A	11535997	C	A	11535997	3	1	96	1	0	0	0	0	1	0	0	0	4608	507	18	5	1642	5	DNAH9	17	11535997	Missense_Mutation	SNP	C	TCGA-EJ-7784-01A-11D-2114-08	3138887	11535997	69659213	69	5444											
CDK12	51755	broad.mit.edu	37	chr17	37687433	37687433	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ctatggggagctggggccagGaaccactggggccagcagct	8	5	17	11	0	0	0	0	0	0	0	0	2	0	2	3	7	4	3	3	7	2	1			TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	b330d9da-504a-4dfe-b696-ceebe0369ede	g.chr17:37687433G>A	ENST00000447079.4	+	14	4370	c.4337G>A	c.(4336-4338)gGa>gAa	p.G1446E	CDK12_ENST00000430627.2_Missense_Mutation_p.G1437E	NM_015083.1|NM_016507.2	NP_055898.1|NP_057591.2	Q9NYV4	CDK12_HUMAN	cyclin-dependent kinase 12	1446					mRNA processing (GO:0006397)|phosphorylation of RNA polymerase II C-terminal domain (GO:0070816)|protein autophosphorylation (GO:0046777)|regulation of MAP kinase activity (GO:0043405)|RNA splicing (GO:0008380)	cyclin K-CDK12 complex (GO:0002944)|nuclear cyclin-dependent protein kinase holoenzyme complex (GO:0019908)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cyclin binding (GO:0030332)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)			NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3)	70						CTGGGGCCAGGAACCACTGGG	0.577			"Mis, N, F"		serous ovarian					TCGA Ovarian(9;0.13)																												ENST00000447079.4				Rec	yes		17	17q12	51755	"Mis, N, F"	cyclin-dependent kinase 12			E			serous ovarian		0				NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3)	70						c.(4336-4338)gGa>gAa		cyclin-dependent kinase 12							52	58	56					17																	37687433		2203	4300	6503	SO:0001583	missense	51755				mRNA processing|phosphorylation of RNA polymerase II C-terminal domain|protein autophosphorylation|regulation of MAP kinase activity|RNA splicing	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck|nucleolus	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity	g.chr17:37687433G>A	AF227198	CCDS11337.1, CCDS45666.1	17q12	2011-10-25	2009-12-16	2009-12-16	ENSG00000167258	ENSG00000167258		"Cyclin-dependent kinases"	24224	protein-coding gene	gene with protein product	"CDC2 related protein kinase 7"	615514	"Cdc2-related kinase, arginine/serine-rich"	CRKRS		10048485, 11683387, 19884882	Standard	XM_005257456		Approved	CRK7, CRKR, KIAA0904	uc010cvv.3	Q9NYV4	OTTHUMG00000133214	ENST00000447079.4:c.4337G>A	17.37:g.37687433G>A	ENSP00000398880:p.Gly1446Glu	TCGA Ovarian(9;0.13)				CDK12_ENST00000430627.2_Missense_Mutation_p.G1437E	p.G1446E	NM_015083.1|NM_016507.2	NP_055898.1|NP_057591.2	Q9NYV4	CDK12_HUMAN			14	4370	+			1446					A7E2B2|B4DYX4|B9EIQ6|O94978	Missense_Mutation	SNP	ENST00000447079.4	37	c.4337G>A	CCDS11337.1	.	.	.	.	.	.	.	.	.	.	G	4.546	0.101397	0.08731	.	.	ENSG00000167258	ENST00000430627;ENST00000447079	T;T	0.64260	-0.09;0.06	5.54	4.58	0.56647	.	0.000000	0.48286	D	0.000190	T	0.30572	0.0769	N	0.02539	-0.55	0.38526	D	0.948843	B;B	0.16802	0.011;0.019	B;B	0.17433	0.008;0.018	T	0.32955	-0.9887	10	0.02654	T	1	-5.558	10.5931	0.45321	0.0724:0.1333:0.7943:0.0	.	1446;1437	Q9NYV4;Q9NYV4-2	CDK12_HUMAN;.	E	1437;1446	ENSP00000407720:G1437E;ENSP00000398880:G1446E	ENSP00000407720:G1437E	G	+	2	0	CDK12	34940959	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.263000	0.65507	1.583000	0.49898	-0.142000	0.14014	GGA		0.577	CDK12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256941.4	NM_016507		35	70	0	0	0	0.827153	0	35	70					A	37687433	G	A	37687433	3	1	96	1	0	0	0	0	1	0	0	0	3128	1174	41	3	4391	3	CDK12	17	37687433	Missense_Mutation	SNP	G	TCGA-EJ-7784-01A-11D-2114-08	26151436	37687433	43507777	70	5445											
DUS3L	56931	broad.mit.edu	37	chr19	5788166	5788166	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccgaagcgcttgcagatccGtcggaagggcaggttcccac	8	6	13	14	4	0	1	0	0	0	1	3	3	2	2	3	3	2	4	3	3	2	2	rs545783379		TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	b330d9da-504a-4dfe-b696-ceebe0369ede	g.chr19:5788166G>A	ENST00000309061.7	-	5	1060	c.964C>T	c.(964-966)Cgg>Tgg	p.R322W	CTB-54O9.9_ENST00000586012.1_5'Flank|DUS3L_ENST00000320699.8_Missense_Mutation_p.R80W|DUS3L_ENST00000590681.1_5'Flank	NM_020175.2	NP_064560.2	Q96G46	DUS3L_HUMAN	dihydrouridine synthase 3-like (S. cerevisiae)	322							flavin adenine dinucleotide binding (GO:0050660)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|tRNA dihydrouridine synthase activity (GO:0017150)			endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(2)	14						TTGCAGATCCGTCGGAAGGGC	0.612																																						ENST00000309061.7																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(2)	14						c.(964-966)Cgg>Tgg		dihydrouridine synthase 3-like (S. cerevisiae)							46	47	47					19																	5788166		2203	4300	6503	SO:0001583	missense	56931				tRNA processing		flavin adenine dinucleotide binding|nucleic acid binding|tRNA dihydrouridine synthase activity|zinc ion binding	g.chr19:5788166G>A		CCDS32880.1, CCDS54202.1	19p13.3	2014-02-12			ENSG00000141994	ENSG00000141994			26920	protein-coding gene	gene with protein product						12477932	Standard	NM_020175		Approved	DUS3, FLJ13896	uc002mdc.3	Q96G46	OTTHUMG00000162311	ENST00000309061.7:c.964C>T	19.37:g.5788166G>A	ENSP00000311977:p.Arg322Trp					DUS3L_ENST00000320699.8_Missense_Mutation_p.R80W	p.R322W	NM_020175.2	NP_064560.2	Q96G46	DUS3L_HUMAN			5	1060	-			322					Q96HM5|Q9BSU4|Q9H877|Q9NPR1	Missense_Mutation	SNP	ENST00000309061.7	37	c.964C>T	CCDS32880.1	.	.	.	.	.	.	.	.	.	.	G	16.13	3.036913	0.54896	.	.	ENSG00000141994	ENST00000309061;ENST00000320699	T;T	0.32753	1.44;1.44	3.78	2.68	0.31781	Aldolase-type TIM barrel (1);	0.000000	0.64402	U	0.000001	T	0.62756	0.2454	H	0.95850	3.73	0.54753	D	0.999981	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.69327	-0.5174	10	0.87932	D	0	-17.1384	7.6301	0.28234	0.0:0.0:0.5388:0.4612	.	80;322	Q96G46-3;Q96G46	.;DUS3L_HUMAN	W	322;80	ENSP00000311977:R322W;ENSP00000315558:R80W	ENSP00000311977:R322W	R	-	1	2	DUS3L	5739166	0.998000	0.40836	0.976000	0.42696	0.523000	0.34469	2.644000	0.46613	1.672000	0.50884	0.306000	0.20318	CGG		0.612	DUS3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451870.2	NM_020175		7	51	0	0	0	0.307466	0	7	51					A	5788166	G	A	5788166	3	1	96	1	0	0	0	0	1	0	0	0	4807	1144	40	1	1024	1	DUS3L	19	5788166	Missense_Mutation	SNP	G	TCGA-EJ-7784-01A-11D-2114-08		5788166	53340817	71	5446											
MED26	9441	broad.mit.edu	37	chr19	16688032	16688032	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tccaggcggctgccctctggGcctgcatgcccactgccatc	4	8	11	18	1	1	0	0	0	1	0	3	0	2	0	5	3	4	2	5	3	0	0			TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	b330d9da-504a-4dfe-b696-ceebe0369ede	g.chr19:16688032G>T	ENST00000263390.3	-	3	871	c.609C>A	c.(607-609)ggC>ggA	p.G203G	CTD-3222D19.2_ENST00000409035.1_Silent_p.G211G|CTC-429P9.4_ENST00000593962.1_5'Flank	NM_004831.3	NP_004822.2	O95402	MED26_HUMAN	mediator complex subunit 26	203					gene expression (GO:0010467)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|RNA polymerase II transcription cofactor activity (GO:0001104)|transcription coactivator activity (GO:0003713)			endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|skin(1)	8						TGCCCTCTGGGCCTGCATGCC	0.672																																						ENST00000263390.3																			0				endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|skin(1)	8						c.(607-609)ggC>ggA		mediator complex subunit 26							52	61	58					19																	16688032		2200	4300	6500	SO:0001819	synonymous_variant	9441				regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	DNA binding|RNA polymerase II transcription cofactor activity|transcription coactivator activity	g.chr19:16688032G>T	AF104253	CCDS12347.1	19p13.11	2008-02-05	2007-07-30	2007-07-30		ENSG00000105085			2376	protein-coding gene	gene with protein product		605043	"cofactor required for Sp1 transcriptional activation, subunit 7, 70kDa"	CRSP7		9989412	Standard	NM_004831		Approved	CRSP70	uc002nen.1	O95402		ENST00000263390.3:c.609C>A	19.37:g.16688032G>T						CTD-3222D19.2_ENST00000409035.1_Silent_p.G211G	p.G203G	NM_004831.3	NP_004822.2	O95402	MED26_HUMAN			3	871	-			203					A1A4S3|Q0VGB6	Silent	SNP	ENST00000263390.3	37	c.609C>A	CCDS12347.1	.	.	.	.	.	.	.	.	.	.	G	0.053	-1.245261	0.01481	.	.	ENSG00000105085	ENST00000453758	.	.	.	4.44	0.839	0.18907	.	.	.	.	.	T	0.25975	0.0633	.	.	.	0.24539	N	0.99408	.	.	.	.	.	.	T	0.26815	-1.0092	5	0.42905	T	0.14	-18.3929	1.392	0.02253	0.2264:0.2648:0.3748:0.1339	.	.	.	.	T	86	.	ENSP00000416503:P86T	P	-	1	0	MED26	16549032	1.000000	0.71417	0.015000	0.15790	0.003000	0.03518	1.545000	0.36169	0.342000	0.23796	0.555000	0.69702	CCC		0.672	MED26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461178.1	NM_004831		10	143	1	0	6.40141e-05	0.38729	7.14004e-05	10	143					T	16688032	G	T	16688032	2	4	96	1	0	0	0	0	0	0	0	1	9444	1190	42	5		5	MED26	19	16688032	Silent	SNP	G	TCGA-EJ-7784-01A-11D-2114-08	10899866	16688032	42440951	72	5447											
TSKS	60385	broad.mit.edu	37	chr19	50245231	50245231	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cactagtgaggtcagtgctcGgtccagcagctgctgcaggg	7	8	15	11	1	1	1	1	1	0	0	3	1	2	1	1	3	5	5	1	3	1	1			TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	b330d9da-504a-4dfe-b696-ceebe0369ede	g.chr19:50245231G>A	ENST00000246801.3	-	9	1490	c.1408C>T	c.(1408-1410)Cga>Tga	p.R470*	TSKS_ENST00000358830.3_Nonsense_Mutation_p.R270*	NM_021733.1	NP_068379.1	Q9UJT2	TSKS_HUMAN	testis-specific serine kinase substrate	470					negative regulation of phosphatase activity (GO:0010923)	centriole (GO:0005814)	protein kinase binding (GO:0019901)			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|prostate(3)|skin(3)	38		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(134;0.0145)		GTCAGTGCTCGGTCCAGCAGC	0.612																																						ENST00000246801.3																			0				breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|prostate(3)|skin(3)	38						c.(1408-1410)Cga>Tga		testis-specific serine kinase substrate							96	84	88					19																	50245231		2203	4300	6503	SO:0001587	stop_gained	60385						protein binding	g.chr19:50245231G>A	BC058862	CCDS12780.1	19q13.3	2014-06-13							30719	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 161"	608253				11444856, 18495105	Standard	NM_021733		Approved	TSSKS, PPP1R161	uc002ppm.3	Q9UJT2		ENST00000246801.3:c.1408C>T	19.37:g.50245231G>A	ENSP00000246801:p.Arg470*					TSKS_ENST00000358830.3_Nonsense_Mutation_p.R270*	p.R470*	NM_021733.1	NP_068379.1	Q9UJT2	TSKS_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(134;0.0145)	9	1490	-		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)	470					Q8WXJ0	Nonsense_Mutation	SNP	ENST00000246801.3	37	c.1408C>T	CCDS12780.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.073331	0.76415	.	.	ENSG00000126467	ENST00000246801;ENST00000358830	.	.	.	4.42	3.38	0.38709	.	0.000000	0.44902	D	0.000416	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-10.0288	8.5184	0.33259	0.1068:0.0:0.8932:0.0	.	.	.	.	X	470;270	.	ENSP00000246801:R470X	R	-	1	2	TSKS	54937043	0.959000	0.32827	0.971000	0.41717	0.155000	0.21991	2.774000	0.47694	1.226000	0.43582	-0.265000	0.10407	CGA		0.612	TSKS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465795.1	NM_021733		3	65	0	0	0	0.150653	0	3	65					A	50245231	G	A	50245231	4	1	96	1	0	0	0	0	0	1	0	0	16623	1124	39	2	382	2	TSKS	19	50245231	Nonsense_Mutation	SNP	G	TCGA-EJ-7784-01A-11D-2114-08	33557199	50245231	8883752	73	5448											
CHRNA4	1137	broad.mit.edu	37	chr20	61981681	61981681	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aattgtccttgaccacggacGgccgcttcatgaggagcagg	9	8	13	11	3	1	2	1	2	0	0	2	4	2	4	3	4	1	2	3	4	1	3	rs267606048		TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	b330d9da-504a-4dfe-b696-ceebe0369ede	g.chr20:61981681G>A	ENST00000370263.4	-	5	1303	c.1082C>T	c.(1081-1083)cCg>cTg	p.P361L	CHRNA4_ENST00000463705.1_5'UTR	NM_000744.6|NM_001256573.1	NP_000735.1|NP_001243502.1	P43681	ACHA4_HUMAN	cholinergic receptor, nicotinic, alpha 4 (neuronal)	361					action potential (GO:0001508)|B cell activation (GO:0042113)|behavioral response to nicotine (GO:0035095)|calcium ion transport (GO:0006816)|cation transmembrane transport (GO:0098655)|cognition (GO:0050890)|DNA repair (GO:0006281)|exploration behavior (GO:0035640)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|locomotory behavior (GO:0007626)|membrane depolarization (GO:0051899)|neurological system process (GO:0050877)|regulation of dopamine secretion (GO:0014059)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of membrane potential (GO:0042391)|respiratory gaseous exchange (GO:0007585)|response to hypoxia (GO:0001666)|response to nicotine (GO:0035094)|response to oxidative stress (GO:0006979)|sensory perception of pain (GO:0019233)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, cholinergic (GO:0007271)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|ligand-gated ion channel activity (GO:0015276)	p.P361L(3)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(19)|prostate(3)|skin(3)|soft_tissue(1)	33	all_cancers(38;1.71e-10)				Amobarbital(DB01351)|Aprobarbital(DB01352)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Dextromethorphan(DB00514)|Galantamine(DB00674)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Methylphenobarbital(DB00849)|Nicotine(DB00184)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Primidone(DB00794)|Secobarbital(DB00418)|Talbutal(DB00306)|Thiopental(DB00599)|Varenicline(DB01273)	GACCACGGACGGCCGCTTCAT	0.662																																						ENST00000370263.4																			3	Substitution - Missense(3)	p.P361L(3)	prostate(3)	breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(19)|prostate(3)|skin(3)|soft_tissue(1)	33						c.(1081-1083)cCg>cTg		cholinergic receptor, nicotinic, alpha 4 (neuronal)	Nicotine(DB00184)|Varenicline(DB01273)						74	55	62					20																	61981681		2203	4300	6503	SO:0001583	missense	1137				B cell activation|behavioral response to nicotine|calcium ion transport|cognition|DNA repair|membrane depolarization|regulation of action potential|regulation of dopamine secretion|regulation of inhibitory postsynaptic membrane potential|response to hypoxia|response to oxidative stress|sensory perception of pain|synaptic transmission, cholinergic	cell junction|dendrite|external side of plasma membrane|membrane fraction|neuronal cell body|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity	g.chr20:61981681G>A		CCDS13517.1	20q13.33	2013-09-20	2012-02-07		ENSG00000101204	ENSG00000101204		"Cholinergic receptors", "Ligand-gated ion channels / Acetylcholine receptors, nicotinic"	1958	protein-coding gene	gene with protein product	"acetylcholine receptor, nicotinic, alpha 4 (neuronal)"	118504	"cholinergic receptor, nicotinic, alpha polypeptide 4"	EBN, EBN1		1505988	Standard	NM_000744		Approved	BFNC	uc002yes.3	P43681	OTTHUMG00000033080	ENST00000370263.4:c.1082C>T	20.37:g.61981681G>A	ENSP00000359285:p.Pro361Leu					CHRNA4_ENST00000463705.1_5'UTR	p.P361L	NM_000744.6|NM_001256573.1	NP_000735.1|NP_001243502.1	P43681	ACHA4_HUMAN			5	1303	-	all_cancers(38;1.71e-10)		361					Q4JGR7|Q4VAQ5|Q4VAQ6	Missense_Mutation	SNP	ENST00000370263.4	37	c.1082C>T	CCDS13517.1	.	.	.	.	.	.	.	.	.	.	G	27.4	4.825807	0.90955	.	.	ENSG00000101204	ENST00000370258;ENST00000370263;ENST00000539366	T	0.72725	-0.68	4.85	4.85	0.62838	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.000000	0.85682	D	0.000000	D	0.83788	0.5330	M	0.71296	2.17	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.946	D	0.85975	0.1479	10	0.87932	D	0	.	18.3259	0.90254	0.0:0.0:1.0:0.0	.	290;361	Q4VAQ5;P43681	.;ACHA4_HUMAN	L	267;361;290	ENSP00000359285:P361L	ENSP00000359280:P267L	P	-	2	0	CHRNA4	61452125	1.000000	0.71417	0.980000	0.43619	0.807000	0.45602	7.719000	0.84751	2.390000	0.81377	0.655000	0.94253	CCG		0.662	CHRNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080508.3			3	47	0	0	0	0.115264	0	3	47					A	61981681	G	A	61981681	3	1	96	1	0	0	0	0	1	0	0	0	3385	1116	39	2	809	2	CHRNA4	20	61981681	Missense_Mutation	SNP	G	TCGA-EJ-7784-01A-11D-2114-08		61981681	1043839	74	5449											
GSTT1	2952	broad.mit.edu	37	chr22	24381723	24381723	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccgtcaaggtgaagtccccGtccttcaaggctggcacctt	7	10	10	14	2	2	1	2	1	0	0	5	1	5	1	5	3	0	2	5	3	3	2			TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	b330d9da-504a-4dfe-b696-ceebe0369ede	g.chr22:24381723G>A	ENST00000248935.5	-	2	229	c.177C>T	c.(175-177)gaC>gaT	p.D59D	GSTT1_ENST00000439996.2_Intron	NM_000853.2	NP_000844.2	P30711	GSTT1_HUMAN		59	GST N-terminal.				glutathione derivative biosynthetic process (GO:1901687)|glutathione metabolic process (GO:0006749)|oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	glutathione peroxidase activity (GO:0004602)|glutathione transferase activity (GO:0004364)			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|ovary(1)|prostate(1)|skin(1)	6					Carboplatin(DB00958)|Cisplatin(DB00515)|Etoposide(DB00773)|Glutathione(DB00143)|Oxaliplatin(DB00526)	TGAAGTCCCCGTCCTTCAAGG	0.562									Myelodysplasia and Acute Myeloid Leukemia (AML), Familial																													ENST00000248935.5																			0				cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|ovary(1)|prostate(1)|skin(1)	6						c.(175-177)gaC>gaT		glutathione S-transferase theta 1	Glutathione(DB00143)						98	84	89					22																	24381723		1708	3615	5323	SO:0001819	synonymous_variant	2952	Myelodysplasia and Acute Myeloid Leukemia (AML), Familial	Familial Cancer Database	incl.: Familial Myelodysplastic syndrome (late-onset), Familial AML, Familial Monocytic Leukemia, Familial Monosomy 7 and AML	glutathione metabolic process	cytosol|soluble fraction	glutathione peroxidase activity|glutathione transferase activity	g.chr22:24381723G>A																												ENST00000248935.5:c.177C>T	22.37:g.24381723G>A						GSTT1_ENST00000439996.2_Intron	p.D59D	NM_000853.2	NP_000844.2	P30711	GSTT1_HUMAN			2	229	-			59			GST N-terminal.		O00226|Q5TZY2|Q6IC69|Q969K8|Q96IY3	Silent	SNP	ENST00000248935.5	37	c.177C>T	CCDS13822.1																																																																																				0.562	GSTT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320184.2			4	114	0	0	0	0.150653	0	4	114					A	24381723	G	A	24381723	2	1	96	1	0	0	0	0	0	0	0	1	6845	1136	40	1		1	GSTT1	22	24381723	Silent	SNP	G	TCGA-EJ-7784-01A-11D-2114-08		24381723	26922843	75	5450											
FAM47A	158724	broad.mit.edu	37	chrX	34150304	34150304	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcgcctgtgcttgcacttcGcgaagcacttggaaggccgt	6	9	14	12	4	0	0	0	0	0	0	1	2	0	1	2	3	3	3	2	3	2	3			TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	b330d9da-504a-4dfe-b696-ceebe0369ede	g.chrX:34150304G>A	ENST00000346193.3	-	1	143	c.92C>T	c.(91-93)gCg>gTg	p.A31V		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	31										NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						CTTGCACTTCGCGAAGCACTT	0.612																																						ENST00000346193.3																			0				NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						c.(91-93)gCg>gTg		family with sequence similarity 47, member A							55	54	54					X																	34150304		2202	4300	6502	SO:0001583	missense	158724							g.chrX:34150304G>A	BC026171	CCDS43926.1	Xp21.1	2004-08-09			ENSG00000185448	ENSG00000185448			29962	protein-coding gene	gene with protein product	"similar to hypothetical protein FLJ35782"					12477932	Standard	NM_203408		Approved	MGC27003	uc004ddg.3	Q5JRC9	OTTHUMG00000021339	ENST00000346193.3:c.92C>T	X.37:g.34150304G>A	ENSP00000345029:p.Ala31Val						p.A31V	NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN			1	143	-			31					A8K8I9|Q8TAA0	Missense_Mutation	SNP	ENST00000346193.3	37	c.92C>T	CCDS43926.1	.	.	.	.	.	.	.	.	.	.	G	13.79	2.340880	0.41498	.	.	ENSG00000185448	ENST00000346193	T	0.20069	2.1	1.41	1.41	0.22369	.	.	.	.	.	T	0.17534	0.0421	M	0.66939	2.045	0.09310	N	1	P	0.38280	0.625	B	0.28709	0.093	T	0.17289	-1.0374	9	0.51188	T	0.08	.	5.8027	0.18422	0.0:0.0:1.0:0.0	.	31	Q5JRC9	FA47A_HUMAN	V	31	ENSP00000345029:A31V	ENSP00000345029:A31V	A	-	2	0	FAM47A	34060225	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	-0.120000	0.10660	1.007000	0.39238	0.544000	0.68410	GCG		0.612	FAM47A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056205.1	NM_203408		19	31	0	0	0	0.575678	0	19	31					A	34150304	G	A	34150304	3	1	96	1	0	0	0	0	1	0	0	0	5569	1087	38	1	2287	1	FAM47A	23	34150304	Missense_Mutation	SNP	G	TCGA-EJ-7784-01A-11D-2114-08		34150304	121120256	76	5451											
SHROOM4	57477	broad.mit.edu	37	chrX	50350702	50350704	+	In_Frame_Del	DEL	TCT	TCT	-																															cctctgcctcctcctcctccTcttcctcttcctcttcttct																										TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	b330d9da-504a-4dfe-b696-ceebe0369ede	g.chrX:50350702_50350704delTCT	ENST00000289292.7	-	6	3721_3723	c.3438_3440delAGA	c.(3436-3441)gaagag>gag	p.1146_1147EE>E	SHROOM4_ENST00000460112.3_In_Frame_Del_p.1030_1031EE>E|SHROOM4_ENST00000376020.2_In_Frame_Del_p.1146_1147EE>E			Q9ULL8	SHRM4_HUMAN	shroom family member 4	1146	Glu-rich.				actin cytoskeleton organization (GO:0030036)|actin filament organization (GO:0007015)|brain development (GO:0007420)|cognition (GO:0050890)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|myosin II complex (GO:0016460)|stress fiber (GO:0001725)	actin filament binding (GO:0051015)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	52	Ovarian(276;0.236)					ctcctcctcctcttcctcttcct	0.557																																						ENST00000376020.2																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	52						c.(3436-3441)gag>ga		shroom family member 4																																				SO:0001651	inframe_deletion	57477				actin filament organization|brain development|cell morphogenesis|cognition	apical plasma membrane|basal plasma membrane|internal side of plasma membrane|nucleus	actin filament binding	g.chrX:50350702_50350704delTCT	AB033028	CCDS35277.1	Xp11.22	2008-02-05			ENSG00000158352	ENSG00000158352			29215	protein-coding gene	gene with protein product		300579				10574462, 16615870	Standard	NR_027121		Approved	KIAA1202	uc004dpe.2	Q9ULL8	OTTHUMG00000021521	ENST00000289292.7:c.3438_3440delAGA	X.37:g.50350702_50350704delTCT	ENSP00000289292:p.Glu1151del					SHROOM4_ENST00000289292.7_In_Frame_Del_p.EE1150del|SHROOM4_ENST00000460112.3_In_Frame_Del_p.EE1034del	p.EE1150del	NM_020717.3	NP_065768.2	Q9ULL8	SHRM4_HUMAN			6	3463_3465	-	Ovarian(276;0.236)		1150			Glu-rich.		A7E2X9|D6RFW0|Q96LA0	In_Frame_Del	DEL	ENST00000289292.7	37	c.3438_3440delAGA	CCDS35277.1																																																																																				0.557	SHROOM4-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056564.4	NM_020717		2	4						2	4	---	---	---	---	-	50350704	TCT	-	50350702	7	5	96	1	0	1	0	1	0	0	0	0	14296	1551	54	0	1057	0	SHROOM4	23	50350702	In_Frame_Del	DEL	TCT	TCGA-EJ-7784-01A-11D-2114-08	16200398	50350702	104919858	77	5452											
EIF4G3	8672	broad.mit.edu	37	chr1	21205816	21205816	+	Splice_Site	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	actccttcctctcttcttacCgttactagacatcgacacat	9	14	3	15	2	2	1	0	0	2	1	6	2	4	1	3	0	2	1	3	0	3	5			TCGA-EJ-7785-01A-11D-2114-08	TCGA-EJ-7785-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b2182a4-8ac1-4d66-be12-cdd906a100a2	f10f7adf-7754-44c5-97cf-66a7b5138f24	g.chr1:21205816C>G	ENST00000264211.8	-	14	2648	c.2454G>C	c.(2452-2454)acG>acC	p.T818T	EIF4G3_ENST00000536266.1_Splice_Site_p.T422T|EIF4G3_ENST00000602326.1_Splice_Site_p.T824T|EIF4G3_ENST00000537738.1_Splice_Site_p.T308T|EIF4G3_ENST00000374937.3_Splice_Site_p.T824T|EIF4G3_ENST00000400422.1_Splice_Site_p.T818T|EIF4G3_ENST00000374935.3_Splice_Site_p.T538T	NM_003760.4	NP_003751.2	O43432	IF4G3_HUMAN	eukaryotic translation initiation factor 4 gamma, 3	818	MIF4G. {ECO:0000255|PROSITE- ProRule:PRU00698}.|eIF3/EIF4A-binding. {ECO:0000250}.				cytokine-mediated signaling pathway (GO:0019221)|positive regulation of meiosis I (GO:0060903)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of translation (GO:0045727)|regulation of translational initiation (GO:0006446)|spermatogenesis (GO:0007283)|viral process (GO:0016032)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)	poly(A) RNA binding (GO:0044822)|RNA cap binding (GO:0000339)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)	p.T824T(1)|p.T818T(1)		endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(18)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(1)|urinary_tract(3)	70		all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191)		CTCTTCTTACCGTTACTAGAC	0.443																																						ENST00000602326.1																			2	Substitution - coding silent(2)	p.T824T(1)|p.T818T(1)	lung(2)	endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(18)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(1)|urinary_tract(3)	70						c.e18+1		eukaryotic translation initiation factor 4 gamma, 3							116	117	116					1																	21205816		2203	4300	6503	SO:0001630	splice_region_variant	8672				interspecies interaction between organisms|regulation of translational initiation|RNA metabolic process	eukaryotic translation initiation factor 4F complex	protein binding|RNA cap binding|translation initiation factor activity	g.chr1:21205816C>G	AF012072	CCDS214.1, CCDS55580.1, CCDS59192.1, CCDS72723.1	1p36.12	2008-02-05			ENSG00000075151	ENSG00000075151			3298	protein-coding gene	gene with protein product		603929				9418880	Standard	NM_001198801		Approved	eIF4GII	uc001bef.3	O43432	OTTHUMG00000002624	ENST00000264211.8:c.2454+1G>C	1.37:g.21205816C>G						EIF4G3_ENST00000374935.3_Splice_Site_p.T538_splice|EIF4G3_ENST00000374937.3_Splice_Site_p.T824_splice|EIF4G3_ENST00000400422.1_Splice_Site_p.T818_splice|EIF4G3_ENST00000536266.1_Splice_Site_p.T422_splice|EIF4G3_ENST00000264211.8_Splice_Site_p.T818_splice|EIF4G3_ENST00000537738.1_Splice_Site_p.T308_splice	p.T824_splice	NM_001198802.1	NP_001185731.1	O43432	IF4G3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191)	18	3055	-		all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256)	818			MIF4G.|eIF3/EIF4A-binding (By similarity).		B9EGQ7|Q15597|Q504Z1|Q5SWC3|Q8NEN1	Splice_Site	SNP	ENST00000264211.8	37	c.2472_splice	CCDS214.1																																																																																				0.443	EIF4G3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000007467.3	NM_003760	Silent	15	70	0	0	0	0.479597	0	15	70					G	21205816	C	G	21205816	5	3	97	1	0	0	0	0	0	0	1	0	5038	666	23	5	2375	5	EIF4G3	1	21205816	Splice_Site	SNP	C	TCGA-EJ-7785-01A-11D-2114-08		21205816	228044805	1	5453											
NCDN	23154	broad.mit.edu	37	chr1	36028872	36028872	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gagatcctgatcaaggaaggGgccccctcgcttctgtgcaa	9	8	12	12	1	2	2	1	1	1	1	4	4	3	3	3	3	1	2	3	3	3	1			TCGA-EJ-7785-01A-11D-2114-08	TCGA-EJ-7785-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b2182a4-8ac1-4d66-be12-cdd906a100a2	f10f7adf-7754-44c5-97cf-66a7b5138f24	g.chr1:36028872G>T	ENST00000373243.2	+	5	1838	c.1455G>T	c.(1453-1455)ggG>ggT	p.G485G	NCDN_ENST00000356090.4_Silent_p.G485G|NCDN_ENST00000373253.3_Silent_p.G468G	NM_014284.2	NP_055099.1	Q9UBB6	NCDN_HUMAN	neurochondrin	485					bone resorption (GO:0045453)|neuron projection development (GO:0031175)|regulation of neuronal synaptic plasticity (GO:0048168)	cytosol (GO:0005829)|dendrite (GO:0030425)|membrane (GO:0016020)|neuronal cell body (GO:0043025)				breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|pancreas(1)|skin(2)	16		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				TCAAGGAAGGGGCCCCCTCGC	0.627																																						ENST00000373243.2																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|pancreas(1)|skin(2)	16						c.(1453-1455)ggG>ggT		neurochondrin							67	68	68					1																	36028872		2203	4300	6503	SO:0001819	synonymous_variant	23154				neuron projection development	cytosol|dendrite|neuronal cell body		g.chr1:36028872G>T	AB011179	CCDS392.1, CCDS30672.1	1p34.3	2008-02-05			ENSG00000020129	ENSG00000020129			17597	protein-coding gene	gene with protein product		608458				15007648	Standard	NM_014284		Approved	NCDN-1, NCDN-2	uc001bza.3	Q9UBB6	OTTHUMG00000059204	ENST00000373243.2:c.1455G>T	1.37:g.36028872G>T						NCDN_ENST00000373253.3_Silent_p.G468G|NCDN_ENST00000356090.4_Silent_p.G485G	p.G485G	NM_014284.2	NP_055099.1	Q9UBB6	NCDN_HUMAN			5	1838	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)	485					D3DPR9|Q9UBY2|Q9Y4A6|Q9Y4D9	Silent	SNP	ENST00000373243.2	37	c.1455G>T	CCDS392.1	.	.	.	.	.	.	.	.	.	.	G	8.640	0.895704	0.17686	.	.	ENSG00000020129	ENST00000423723	.	.	.	4.53	-2.96	0.05547	.	0.125717	0.53938	D	0.000044	T	0.54095	0.1837	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.52003	-0.8633	6	0.87932	D	0	.	3.2233	0.06723	0.2974:0.1081:0.4831:0.1114	.	.	.	.	V	79	.	ENSP00000407339:G79V	G	+	2	0	NCDN	35801459	0.998000	0.40836	0.986000	0.45419	0.957000	0.61999	0.408000	0.21065	-0.617000	0.05664	-2.048000	0.00412	GGG		0.627	NCDN-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131298.1	NM_014284		13	48	1	0	4.93089e-13	0.457914	5.678e-13	13	48					T	36028872	G	T	36028872	2	4	97	1	0	0	0	0	0	0	0	1	10214	1219	43	5		5	NCDN	1	36028872	Silent	SNP	G	TCGA-EJ-7785-01A-11D-2114-08	14823056	36028872	213221749	2	5454											
ZNF142	7701	broad.mit.edu	37	chr2	219507559	219507559	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggcaagagctgcaggggatgCggccaatgcctgtgtgtcgg	7	7	18	9	2	0	1	0	0	0	1	1	2	0	2	2	5	4	3	2	5	2	0			TCGA-EJ-7785-01A-11D-2114-08	TCGA-EJ-7785-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b2182a4-8ac1-4d66-be12-cdd906a100a2	f10f7adf-7754-44c5-97cf-66a7b5138f24	g.chr2:219507559C>T	ENST00000449707.1	-	8	4101	c.3680G>A	c.(3679-3681)cGc>cAc	p.R1227H	ZNF142_ENST00000411696.2_Missense_Mutation_p.R1227H	NM_001105537.1	NP_001099007.1	P52746	ZN142_HUMAN	zinc finger protein 142	1227					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(7)|endometrium(7)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38		Renal(207;0.0474)		Epithelial(149;5.21e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		GCAGGGGATGCGGCCAATGCC	0.577																																					Colon(170;867 1942 8995 15834 18053)	ENST00000411696.2																			0				breast(7)|endometrium(7)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38						c.(3679-3681)cGc>cAc		zinc finger protein 142							95	107	103					2																	219507559		2138	4235	6373	SO:0001583	missense	7701				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr2:219507559C>T	U09849	CCDS42817.1	2q35	2013-01-08	2006-06-13		ENSG00000115568	ENSG00000115568		"Zinc fingers, C2H2-type"	12927	protein-coding gene	gene with protein product		604083	"zinc finger protein 142 (clone pHZ-49)"				Standard	NM_001105537		Approved	KIAA0236, pHZ-49	uc002vin.4	P52746	OTTHUMG00000154736	ENST00000449707.1:c.3680G>A	2.37:g.219507559C>T	ENSP00000408643:p.Arg1227His					ZNF142_ENST00000449707.1_Missense_Mutation_p.R1227H	p.R1227H			P52746	ZN142_HUMAN		Epithelial(149;5.21e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	7	4459	-		Renal(207;0.0474)	1227					Q92510	Missense_Mutation	SNP	ENST00000449707.1	37	c.3680G>A	CCDS42817.1	.	.	.	.	.	.	.	.	.	.	C	27.8	4.864440	0.91511	.	.	ENSG00000115568	ENST00000449707;ENST00000411696	T;T	0.60672	0.17;0.17	5.44	5.44	0.79542	Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.69133	0.3077	L	0.38953	1.18	0.58432	D	0.999997	D;D	0.89917	1.0;1.0	D;D	0.80764	0.994;0.994	T	0.67507	-0.5653	10	0.46703	T	0.11	-55.011	19.4628	0.94924	0.0:1.0:0.0:0.0	.	1227;1064	P52746;A8MWU9	ZN142_HUMAN;.	H	1227	ENSP00000408643:R1227H;ENSP00000398798:R1227H	ENSP00000398798:R1227H	R	-	2	0	ZNF142	219215803	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	7.364000	0.79526	2.837000	0.97791	0.655000	0.94253	CGC		0.577	ZNF142-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336833.1	NM_005081		23	140	0	0	0	0.654019	0	23	140					T	219507559	C	T	219507559	3	4	97	1	0	0	0	0	1	0	0	0	17728	768	27	1	1395	1	ZNF142	2	219507559	Missense_Mutation	SNP	C	TCGA-EJ-7785-01A-11D-2114-08		219507559	23691814	3	5455											
MYEOV2	150678	broad.mit.edu	37	chr2	241066272	241066272	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttctctgcatctggtaaacAttagcgcctccgccccctgc	6	11	8	16	2	2	0	0	0	2	0	4	0	3	0	4	1	4	3	4	1	3	3	rs142104600		TCGA-EJ-7785-01A-11D-2114-08	TCGA-EJ-7785-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b2182a4-8ac1-4d66-be12-cdd906a100a2	f10f7adf-7754-44c5-97cf-66a7b5138f24	g.chr2:241066272A>G	ENST00000307266.3	-	5	466	c.467T>C	c.(466-468)aTg>aCg	p.M156T		NM_138336.1	NP_612209.1	Q8WXC6	MYOV2_HUMAN	myeloma overexpressed 2	0										breast(1)|lung(5)|pancreas(1)	7		all_epithelial(40;1.56e-11)|Breast(86;0.0002)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.229)|Melanoma(123;0.238)		Epithelial(121;3.81e-30)|all cancers(36;1.1e-27)|OV - Ovarian serous cystadenocarcinoma(60;2.74e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;8.54e-06)|Lung(119;0.00361)|LUSC - Lung squamous cell carcinoma(224;0.0153)|Colorectal(34;0.0202)|COAD - Colon adenocarcinoma(134;0.143)		TCTGGTAAACATTAGCGCCTC	0.537																																						ENST00000307266.3																			0				breast(1)|lung(5)|pancreas(1)	7						c.(466-468)aTg>aCg		myeloma overexpressed 2		A	THR/MET	0,4406		0,0,2203	195	203	200		467	-3.8	0	2	dbSNP_134	200	1,8599	1.2+/-3.3	0,1,4299	yes	missense	MYEOV2	NM_138336.1	81	0,1,6502	GG,GA,AA		0.0116,0.0,0.0077	benign	156/253	241066272	1,13005	2203	4300	6503	SO:0001583	missense	150678							g.chr2:241066272A>G	AF453951	CCDS2532.1, CCDS63183.1	2q37.3	2008-02-05			ENSG00000172428	ENSG00000172428			21314	protein-coding gene	gene with protein product							Standard	NM_138336		Approved		uc002vyu.1	Q8WXC6	OTTHUMG00000133352	ENST00000307266.3:c.467T>C	2.37:g.241066272A>G	ENSP00000304147:p.Met156Thr						p.M156T	NM_138336.1	NP_612209.1	Q8WXC6	MYOV2_HUMAN		Epithelial(121;3.81e-30)|all cancers(36;1.1e-27)|OV - Ovarian serous cystadenocarcinoma(60;2.74e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;8.54e-06)|Lung(119;0.00361)|LUSC - Lung squamous cell carcinoma(224;0.0153)|Colorectal(34;0.0202)|COAD - Colon adenocarcinoma(134;0.143)	5	466	-		all_epithelial(40;1.56e-11)|Breast(86;0.0002)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.229)|Melanoma(123;0.238)	0					Q8N110	Missense_Mutation	SNP	ENST00000307266.3	37	c.467T>C	CCDS2532.1	.	.	.	.	.	.	.	.	.	.	A	1.540	-0.542059	0.04053	0.0	1.16E-4	ENSG00000172428	ENST00000307266	.	.	.	2.01	-3.79	0.04320	.	.	.	.	.	T	0.29389	0.0732	.	.	.	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.26467	-1.0102	7	0.87932	D	0	.	8.3742	0.32434	0.321:0.0:0.679:0.0	.	156	Q8WXC6-1	.	T	156	.	ENSP00000304147:M156T	M	-	2	0	MYEOV2	240714945	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.291000	0.08343	-1.087000	0.03081	-1.039000	0.02377	ATG		0.537	MYEOV2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000257182.2	NM_138336		4	117	0	0	0	0.150653	0	4	117					G	241066272	A	G	241066272	3	3	97	1	0	0	0	0	1	0	0	0	10026	217	8	4	295	4	MYEOV2	2	241066272	Missense_Mutation	SNP	A	TCGA-EJ-7785-01A-11D-2114-08	21558713	241066272	2133101	4	5456											
CCDC66	285331	broad.mit.edu	37	chr3	56627995	56627995	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctccgttctatgactgctcTcttggacccagctcagattg	6	14	8	13	1	4	2	1	1	3	1	6	3	4	3	2	1	2	3	2	1	1	4			TCGA-EJ-7785-01A-11D-2114-08	TCGA-EJ-7785-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b2182a4-8ac1-4d66-be12-cdd906a100a2	f10f7adf-7754-44c5-97cf-66a7b5138f24	g.chr3:56627995T>A	ENST00000394672.3	+	10	1413	c.1343T>A	c.(1342-1344)cTc>cAc	p.L448H	CCDC66_ENST00000436465.2_Missense_Mutation_p.L448H|CCDC66_ENST00000326595.7_Missense_Mutation_p.L414H	NM_001012506.4|NM_001141947.1	NP_001012524.4|NP_001135419.1	A2RUB6	CCD66_HUMAN	coiled-coil domain containing 66	448					post-embryonic retina morphogenesis in camera-type eye (GO:0060060)|retinal rod cell development (GO:0046548)					breast(1)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(2)|urinary_tract(1)	12				KIRC - Kidney renal clear cell carcinoma(284;0.0478)|Kidney(284;0.0597)|OV - Ovarian serous cystadenocarcinoma(275;0.233)		ATGACTGCTCTCTTGGACCCA	0.373																																						ENST00000394672.3																			0				breast(1)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(2)|urinary_tract(1)	12						c.(1342-1344)cTc>cAc		coiled-coil domain containing 66							180	167	172					3																	56627995		2203	4300	6503	SO:0001583	missense	285331							g.chr3:56627995T>A	AL832692	CCDS33770.2, CCDS46852.1	3p14.3	2006-03-27			ENSG00000180376	ENSG00000180376			27709	protein-coding gene	gene with protein product						14702039	Standard	NR_024460		Approved	DKFZp686C0433	uc003dhz.3	A2RUB6	OTTHUMG00000155748	ENST00000394672.3:c.1343T>A	3.37:g.56627995T>A	ENSP00000378167:p.Leu448His					CCDC66_ENST00000436465.2_Missense_Mutation_p.L448H|CCDC66_ENST00000326595.7_Missense_Mutation_p.L414H	p.L448H	NM_001012506.4|NM_001141947.1	NP_001012524.4|NP_001135419.1	A2RUB6	CCD66_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0478)|Kidney(284;0.0597)|OV - Ovarian serous cystadenocarcinoma(275;0.233)	10	1413	+			448					B3KWL8|Q4VC34|Q8N949	Missense_Mutation	SNP	ENST00000394672.3	37	c.1343T>A	CCDS46852.1	.	.	.	.	.	.	.	.	.	.	T	19.72	3.880810	0.72294	.	.	ENSG00000180376	ENST00000422222;ENST00000394672;ENST00000326595;ENST00000436465	T;T;T;T	0.56444	0.46;0.46;0.46;0.46	5.96	5.96	0.96718	.	0.062942	0.64402	D	0.000003	T	0.72969	0.3527	M	0.78049	2.395	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	T	0.76642	-0.2884	10	0.87932	D	0	-6.7415	14.658	0.68847	0.0:0.0:0.0:1.0	.	448	A2RUB6	CCD66_HUMAN	H	404;448;414;448	ENSP00000401451:L404H;ENSP00000378167:L448H;ENSP00000326050:L414H;ENSP00000404320:L448H	ENSP00000326050:L414H	L	+	2	0	CCDC66	56603035	1.000000	0.71417	1.000000	0.80357	0.743000	0.42351	5.287000	0.65645	2.274000	0.75844	0.477000	0.44152	CTC		0.373	CCDC66-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341473.1	NM_001012506		18	76	0	0	0	0.575678	0	18	76					A	56627995	T	A	56627995	3	1	97	1	0	0	0	0	1	0	0	0	2838	1551	54	5	1381	5	CCDC66	3	56627995	Missense_Mutation	SNP	T	TCGA-EJ-7785-01A-11D-2114-08		56627995	141394435	5	5457											
KDR	3791	broad.mit.edu	37	chr4	55946268	55946268	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	agtgatatccggactggtagCcgcttgtctggtttgagcct	6	13	13	9	2	1	2	0	2	1	0	2	3	2	3	3	3	2	3	3	3	2	4			TCGA-EJ-7785-01A-11D-2114-08	TCGA-EJ-7785-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b2182a4-8ac1-4d66-be12-cdd906a100a2	f10f7adf-7754-44c5-97cf-66a7b5138f24	g.chr4:55946268C>T	ENST00000263923.4	-	30	4206	c.3911G>A	c.(3910-3912)gGc>gAc	p.G1304D	RP11-530I17.1_ENST00000511222.1_RNA	NM_002253.2	NP_002244.1	P35968	VGFR2_HUMAN	kinase insert domain receptor (a type III receptor tyrosine kinase)	1304					angiogenesis (GO:0001525)|branching morphogenesis of an epithelial tube (GO:0048754)|calcium ion homeostasis (GO:0055074)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|cell fate commitment (GO:0045165)|cell maturation (GO:0048469)|cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|embryonic hemopoiesis (GO:0035162)|endothelial cell differentiation (GO:0045446)|endothelium development (GO:0003158)|extracellular matrix organization (GO:0030198)|lung alveolus development (GO:0048286)|lymph vessel development (GO:0001945)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|ovarian follicle development (GO:0001541)|peptidyl-tyrosine autophosphorylation (GO:0038083)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of vasculogenesis (GO:2001214)|protein autophosphorylation (GO:0046777)|regulation of cell shape (GO:0008360)|signal transduction by phosphorylation (GO:0023014)|surfactant homeostasis (GO:0043129)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor signaling pathway (GO:0038084)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sorting endosome (GO:0097443)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|Hsp90 protein binding (GO:0051879)|integrin binding (GO:0005178)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor binding (GO:0038085)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Axitinib(DB06626)|Cabozantinib(DB08875)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	GGACTGGTAGCCGCTTGTCTG	0.507			Mis		"NSCLC, angiosarcoma"					TSP Lung(20;0.16)																												ENST00000263923.4				Dom	yes		4	4q11-q12	3791	Mis	vascular endothelial growth factor receptor 2			E			"NSCLC, angiosarcoma"		0				NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135						c.(3910-3912)gGc>gAc		kinase insert domain receptor (a type III receptor tyrosine kinase)	Sorafenib(DB00398)|Sunitinib(DB01268)						168	161	164					4																	55946268		2203	4300	6503	SO:0001583	missense	3791				angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape	integral to plasma membrane	ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity	g.chr4:55946268C>T	AF035121	CCDS3497.1	4q11-q12	2013-01-29			ENSG00000128052	ENSG00000128052	2.7.10.1	"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6307	protein-coding gene	gene with protein product		191306				1417831	Standard	NM_002253		Approved	FLK1, VEGFR, VEGFR2, CD309	uc003has.3	P35968	OTTHUMG00000128734	ENST00000263923.4:c.3911G>A	4.37:g.55946268C>T	ENSP00000263923:p.Gly1304Asp	TSP Lung(20;0.16)				RP11-530I17.1_ENST00000511222.1_RNA	p.G1304D	NM_002253.2	NP_002244.1	P35968	VGFR2_HUMAN	Epithelial(7;0.189)		30	4206	-	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		1304					A2RRS0|B5A925|C5IFA0|O60723|Q14178	Missense_Mutation	SNP	ENST00000263923.4	37	c.3911G>A	CCDS3497.1	.	.	.	.	.	.	.	.	.	.	C	13.73	2.323543	0.41096	.	.	ENSG00000128052	ENST00000263923	T	0.76060	-0.99	5.62	4.78	0.61160	.	0.000000	0.85682	D	0.000000	T	0.62744	0.2453	L	0.33245	0.995	0.80722	D	1	P	0.49783	0.928	B	0.42343	0.384	T	0.60367	-0.7277	10	0.27785	T	0.31	.	10.732	0.46102	0.0:0.8549:0.0:0.1451	.	1304	P35968	VGFR2_HUMAN	D	1304	ENSP00000263923:G1304D	ENSP00000263923:G1304D	G	-	2	0	KDR	55641025	1.000000	0.71417	0.994000	0.49952	0.767000	0.43475	4.685000	0.61693	1.395000	0.46643	0.650000	0.86243	GGC		0.507	KDR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250645.1			5	111	0	0	0	0.248553	0	5	111					T	55946268	C	T	55946268	3	4	97	1	0	0	0	0	1	0	0	0	8139	739	26	3	163	3	KDR	4	55946268	Missense_Mutation	SNP	C	TCGA-EJ-7785-01A-11D-2114-08		55946268	135208008	6	5458											
FAM8A1	51439	broad.mit.edu	37	chr6	17605181	17605181	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttatataatagaagaaatagAtgaagacacatcaatggaag	21	9	8	3	0	1	5	1	1	0	4	1	6	1	6	0	1	0	0	0	1	10	5			TCGA-EJ-7785-01A-11D-2114-08	TCGA-EJ-7785-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b2182a4-8ac1-4d66-be12-cdd906a100a2	f10f7adf-7754-44c5-97cf-66a7b5138f24	g.chr6:17605181A>G	ENST00000259963.3	+	3	933	c.878A>G	c.(877-879)gAt>gGt	p.D293G		NM_016255.2	NP_057339.1	Q9UBU6	FA8A1_HUMAN	family with sequence similarity 8, member A1	293	RDD.					integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(2)|lung(3)	6	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.143)	all cancers(50;0.176)|Epithelial(50;0.204)			GAAGAAATAGATGAAGACACA	0.323																																						ENST00000259963.3																			0				endometrium(1)|large_intestine(2)|lung(3)	6						c.(877-879)gAt>gGt		family with sequence similarity 8, member A1							101	107	105					6																	17605181		2202	4300	6502	SO:0001583	missense	51439					integral to membrane		g.chr6:17605181A>G	AF097027	CCDS4540.1	6p23	2010-11-22			ENSG00000137414	ENSG00000137414			16372	protein-coding gene	gene with protein product						11707071	Standard	NM_016255		Approved	AHCP	uc003ncc.3	Q9UBU6	OTTHUMG00000014309	ENST00000259963.3:c.878A>G	6.37:g.17605181A>G	ENSP00000259963:p.Asp293Gly						p.D293G	NM_016255.2	NP_057339.1	Q9UBU6	FA8A1_HUMAN	all cancers(50;0.176)|Epithelial(50;0.204)		3	933	+	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.143)	293			RDD.		B2R725	Missense_Mutation	SNP	ENST00000259963.3	37	c.878A>G	CCDS4540.1	.	.	.	.	.	.	.	.	.	.	A	22.9	4.356210	0.82243	.	.	ENSG00000137414	ENST00000542476;ENST00000259963	.	.	.	5.84	4.63	0.57726	RDD (1);	0.000000	0.85682	D	0.000000	T	0.71821	0.3385	M	0.76574	2.34	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	T	0.75465	-0.3308	9	0.62326	D	0.03	-12.7336	12.424	0.55536	0.8746:0.0:0.0:0.1254	.	293	Q9UBU6	FA8A1_HUMAN	G	43;293	.	ENSP00000259963:D293G	D	+	2	0	FAM8A1	17713160	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.907000	0.92634	2.230000	0.72887	0.455000	0.32223	GAT		0.323	FAM8A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039950.1			8	33	0	0	0	0.27861	0	8	33					G	17605181	A	G	17605181	3	3	97	1	0	0	0	0	1	0	0	0	5649	333	12	4	888	4	FAM8A1	6	17605181	Missense_Mutation	SNP	A	TCGA-EJ-7785-01A-11D-2114-08		17605181	153509886	7	5459											
LAMA2	3908	broad.mit.edu	37	chr6	129824263	129824263	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	attgagttggaagtaagaacCgaagctgaatccggcttgct	12	10	12	7	2	0	3	0	2	0	1	1	5	1	4	2	2	3	5	2	2	5	4	rs142445491		TCGA-EJ-7785-01A-11D-2114-08	TCGA-EJ-7785-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b2182a4-8ac1-4d66-be12-cdd906a100a2	f10f7adf-7754-44c5-97cf-66a7b5138f24	g.chr6:129824263C>T	ENST00000421865.2	+	60	8434	c.8385C>T	c.(8383-8385)acC>acT	p.T2795T		NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	2795	Laminin G-like 4. {ECO:0000255|PROSITE- ProRule:PRU00122}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|myelination in peripheral nervous system (GO:0022011)|positive regulation of synaptic transmission, cholinergic (GO:0032224)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|sarcolemma (GO:0042383)	structural molecule activity (GO:0005198)			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		AAGTAAGAACCGAAGCTGAAT	0.403																																						ENST00000421865.2																			0				NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194						c.(8383-8385)acC>acT		laminin, alpha 2		C	,	1,4405	2.1+/-5.4	0,1,2202	128	113	118		8385,8373	-11.9	0.1	6	dbSNP_134	118	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	LAMA2	NM_000426.3,NM_001079823.1	,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,	2795/3123,2791/3119	129824263	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	3908				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	g.chr6:129824263C>T	Z26653	CCDS5138.1	6q22-q23	2014-09-17	2008-08-01		ENSG00000196569	ENSG00000196569		"Laminins"	6482	protein-coding gene	gene with protein product	"merosin", "congenital muscular dystrophy"	156225		LAMM		2185464, 8294519	Standard	NM_000426		Approved		uc003qbn.3	P24043	OTTHUMG00000015545	ENST00000421865.2:c.8385C>T	6.37:g.129824263C>T							p.T2795T	NM_000426.3|NM_001079823.1	NP_000417.2|NP_001073291.1	P24043	LAMA2_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)	60	8434	+			2795			Laminin G-like 4.		Q14736|Q5VUM2|Q93022	Silent	SNP	ENST00000421865.2	37	c.8385C>T	CCDS5138.1																																																																																				0.403	LAMA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042180.1			13	80	0	0	0	0.500413	0	13	80					T	129824263	C	T	129824263	2	4	97	1	0	0	0	0	0	0	0	1	8606	639	23	2		2	LAMA2	6	129824263	Silent	SNP	C	TCGA-EJ-7785-01A-11D-2114-08	112219082	129824263	41290804	8	5460											
MUC17	140453	broad.mit.edu	37	chr7	100681501	100681501	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acaactgctgaaggtaccagCataccaacttcaactcttag	14	9	6	12	0	2	1	1	1	1	0	2	1	2	1	2	1	7	3	2	1	7	4			TCGA-EJ-7785-01A-11D-2114-08	TCGA-EJ-7785-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b2182a4-8ac1-4d66-be12-cdd906a100a2	f10f7adf-7754-44c5-97cf-66a7b5138f24	g.chr7:100681501C>T	ENST00000306151.4	+	3	6868	c.6804C>T	c.(6802-6804)agC>agT	p.S2268S		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	2268	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					AAGGTACCAGCATACCAACTT	0.488																																						ENST00000306151.4																			0				NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343						c.(6802-6804)agC>agT		mucin 17, cell surface associated							265	268	267					7																	100681501		2203	4300	6503	SO:0001819	synonymous_variant	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100681501C>T	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"Mucins"	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.6804C>T	7.37:g.100681501C>T							p.S2268S	NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN			3	6868	+	Lung NSC(181;0.136)|all_lung(186;0.182)		2268			59 X approximate tandem repeats.|Ser-rich.		O14761|Q685J2|Q8TDH7	Silent	SNP	ENST00000306151.4	37	c.6804C>T	CCDS34711.1																																																																																				0.488	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		42	270	0	0	0	0.840704	0	42	270					T	100681501	C	T	100681501	2	4	97	1	0	0	0	0	0	0	0	1	9974	709	25	3		3	MUC17	7	100681501	Silent	SNP	C	TCGA-EJ-7785-01A-11D-2114-08		100681501	58457162	9	5461											
LAMB1	3912	broad.mit.edu	37	chr7	107580636	107580636	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cagctcggcaatgatcacatCccagagagcaaagcactggt	13	6	10	12	1	1	2	1	1	0	1	3	3	2	2	1	2	3	4	1	2	2	0			TCGA-EJ-7785-01A-11D-2114-08	TCGA-EJ-7785-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b2182a4-8ac1-4d66-be12-cdd906a100a2	f10f7adf-7754-44c5-97cf-66a7b5138f24	g.chr7:107580636C>T	ENST00000222399.6	-	25	3789	c.3559G>A	c.(3559-3561)Gat>Aat	p.D1187N	LAMB1_ENST00000393561.1_Missense_Mutation_p.D1211N|CTB-13F3.1_ENST00000608515.1_RNA	NM_002291.2	NP_002282.2	P07942	LAMB1_HUMAN	laminin, beta 1	1187	Domain II.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|embryo implantation (GO:0007566)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of cell adhesion (GO:0007162)|neuron projection development (GO:0031175)|neuronal-glial interaction involved in cerebral cortex radial glia guided migration (GO:0021812)|odontogenesis (GO:0042476)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell proliferation (GO:0050679)|substrate adhesion-dependent cell spreading (GO:0034446)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-2 complex (GO:0005607)|laminin-8 complex (GO:0043257)|perinuclear region of cytoplasm (GO:0048471)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)|structural molecule activity (GO:0005198)			NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)	82						ATGATCACATCCCAGAGAGCA	0.572																																						ENST00000393561.1																			0				NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)	82						c.(3631-3633)Gat>Aat		laminin, beta 1	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						146	115	126					7																	107580636		2203	4300	6503	SO:0001583	missense	3912				axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm	extracellular matrix structural constituent	g.chr7:107580636C>T	M61916	CCDS5750.1	7q22	2013-03-01			ENSG00000091136	ENSG00000091136		"Laminins"	6486	protein-coding gene	gene with protein product		150240	"cutis laxa with marfanoid phenotype"	CLM		2563160, 2704655, 1864606	Standard	NM_002291		Approved		uc003vew.2	P07942	OTTHUMG00000149966	ENST00000222399.6:c.3559G>A	7.37:g.107580636C>T	ENSP00000222399:p.Asp1187Asn					LAMB1_ENST00000222399.6_Missense_Mutation_p.D1187N	p.D1211N			P07942	LAMB1_HUMAN			23	3815	-			1187			Domain II.		Q14D91	Missense_Mutation	SNP	ENST00000222399.6	37	c.3631G>A	CCDS5750.1	.	.	.	.	.	.	.	.	.	.	C	19.81	3.896508	0.72639	.	.	ENSG00000091136	ENST00000393561;ENST00000222399	T;T	0.35973	1.28;1.28	5.22	4.32	0.51571	.	.	.	.	.	T	0.35970	0.0950	L	0.46157	1.445	0.80722	D	1	B;B	0.29162	0.235;0.171	B;B	0.33339	0.162;0.121	T	0.33137	-0.9880	9	0.72032	D	0.01	.	14.2363	0.65929	0.0:0.9272:0.0:0.0728	.	1187;1211	P07942;G3XAI2	LAMB1_HUMAN;.	N	1211;1187	ENSP00000377191:D1211N;ENSP00000222399:D1187N	ENSP00000222399:D1187N	D	-	1	0	LAMB1	107367872	1.000000	0.71417	0.998000	0.56505	0.948000	0.59901	5.615000	0.67702	2.712000	0.92718	0.563000	0.77884	GAT		0.572	LAMB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314584.1	NM_002291		11	94	0	0	0	0.361761	0	11	94					T	107580636	C	T	107580636	3	4	97	1	0	0	0	0	1	0	0	0	8610	855	30	3	1841	3	LAMB1	7	107580636	Missense_Mutation	SNP	C	TCGA-EJ-7785-01A-11D-2114-08	6899135	107580636	51558027	10	5462											
PDE6C	5146	broad.mit.edu	37	chr10	95405746	95405746	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tccattagcaagacttcatgGttcttctattttggagaggc	9	15	9	8	0	3	2	1	0	2	2	4	3	4	2	1	3	1	2	1	3	3	7			TCGA-EJ-7785-01A-11D-2114-08	TCGA-EJ-7785-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b2182a4-8ac1-4d66-be12-cdd906a100a2	f10f7adf-7754-44c5-97cf-66a7b5138f24	g.chr10:95405746G>C	ENST00000371447.3	+	15	2015	c.1877G>C	c.(1876-1878)gGt>gCt	p.G626A		NM_006204.3	NP_006195.3	P51160	PDE6C_HUMAN	phosphodiesterase 6C, cGMP-specific, cone, alpha prime	626					phototransduction, visible light (GO:0007603)|retinal cone cell development (GO:0046549)|visual perception (GO:0007601)	plasma membrane (GO:0005886)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|cGMP binding (GO:0030553)|metal ion binding (GO:0046872)			breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	42		Colorectal(252;0.123)			Caffeine(DB00201)	AGACTTCATGGTTCTTCTATT	0.403																																						ENST00000371447.3																			0				breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	42						c.(1876-1878)gGt>gCt		phosphodiesterase 6C, cGMP-specific, cone, alpha prime							189	164	173					10																	95405746		2203	4300	6503	SO:0001583	missense	5146				visual perception	plasma membrane	3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|metal ion binding	g.chr10:95405746G>C	U31973	CCDS7429.1	10q24	2013-01-23			ENSG00000095464	ENSG00000095464	3.1.4.17	"Phosphodiesterases"	8787	protein-coding gene	gene with protein product		600827					Standard	NM_006204		Approved	PDEA2, ACHM5, COD4	uc001kiu.4	P51160	OTTHUMG00000018775	ENST00000371447.3:c.1877G>C	10.37:g.95405746G>C	ENSP00000360502:p.Gly626Ala						p.G626A	NM_006204.3	NP_006195.3	P51160	PDE6C_HUMAN			15	2015	+		Colorectal(252;0.123)	626					A6NCR6|Q5VY29	Missense_Mutation	SNP	ENST00000371447.3	37	c.1877G>C	CCDS7429.1	.	.	.	.	.	.	.	.	.	.	G	19.89	3.910695	0.72983	.	.	ENSG00000095464	ENST00000371447	T	0.77358	-1.09	5.31	5.31	0.75309	Metal-dependent phosphohydrolase, HD domain (1);5&apos (2);-cyclic nucleotide phosphodiesterase, catalytic domain (2);3&apos (2);	0.044250	0.85682	D	0.000000	D	0.88074	0.6339	M	0.80982	2.52	0.80722	D	1	D	0.76494	0.999	D	0.67725	0.953	D	0.88987	0.3412	10	0.66056	D	0.02	.	17.3412	0.87297	0.0:0.0:1.0:0.0	.	626	P51160	PDE6C_HUMAN	A	626	ENSP00000360502:G626A	ENSP00000360502:G626A	G	+	2	0	PDE6C	95395736	1.000000	0.71417	0.989000	0.46669	0.446000	0.32137	8.373000	0.90131	2.763000	0.94921	0.563000	0.77884	GGT		0.403	PDE6C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049437.1	NM_006204		8	37	0	0	0	0.335167	0	8	37					C	95405746	G	C	95405746	3	2	97	1	0	0	0	0	1	0	0	0	11647	1261	44	5	1935	5	PDE6C	10	95405746	Missense_Mutation	SNP	G	TCGA-EJ-7785-01A-11D-2114-08		95405746	40129001	11	5463											
CORO1B	57175	broad.mit.edu	37	chr11	67205932	67205932	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ccttgaccagcgccctcaggGcccgcagctcctgcatcacc	6	6	9	20	2	2	1	2	1	0	0	3	1	3	1	6	1	3	3	6	1	0	1			TCGA-EJ-7785-01A-11D-2114-08	TCGA-EJ-7785-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b2182a4-8ac1-4d66-be12-cdd906a100a2	f10f7adf-7754-44c5-97cf-66a7b5138f24	g.chr11:67205932G>T	ENST00000341356.5	-	11	1495	c.1385C>A	c.(1384-1386)gCc>gAc	p.A462D	PTPRCAP_ENST00000326294.3_5'Flank|CORO1B_ENST00000539724.1_5'UTR|CORO1B_ENST00000393893.1_Missense_Mutation_p.A462D	NM_020441.2	NP_065174.1	Q9BR76	COR1B_HUMAN	coronin, actin binding protein, 1B	462					actin cytoskeleton organization (GO:0030036)|actin filament branching (GO:0090135)|actin filament bundle assembly (GO:0051017)|cell migration (GO:0016477)|endothelial cell chemotaxis (GO:0035767)|negative regulation of Arp2/3 complex-mediated actin nucleation (GO:0034316)|positive regulation of lamellipodium morphogenesis (GO:2000394)|protein localization to cell leading edge (GO:1902463)|ruffle organization (GO:0031529)|wound healing (GO:0042060)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|stress fiber (GO:0001725)	actin filament binding (GO:0051015)|Arp2/3 complex binding (GO:0071933)|identical protein binding (GO:0042802)			cervix(1)|endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	13			BRCA - Breast invasive adenocarcinoma(15;3.26e-06)			CGCCCTCAGGGCCCGCAGCTC	0.682																																						ENST00000393893.1																			0				cervix(1)|endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	13						c.(1384-1386)gCc>gAc		coronin, actin binding protein, 1B							38	40	39					11																	67205932		2200	4295	6495	SO:0001583	missense	57175				actin cytoskeleton organization	actin cytoskeleton|cytoplasm	actin filament binding	g.chr11:67205932G>T	AK000860	CCDS8164.1	11q13.1	2013-01-10	2001-11-28		ENSG00000172725	ENSG00000172725		"Coronins", "WD repeat domain containing"	2253	protein-coding gene	gene with protein product		609849	"coronin, actin-binding protein, 1B"			9778037	Standard	NM_001018070		Approved	coronin-2	uc001olk.1	Q9BR76	OTTHUMG00000167775	ENST00000341356.5:c.1385C>A	11.37:g.67205932G>T	ENSP00000340211:p.Ala462Asp					CORO1B_ENST00000341356.5_Missense_Mutation_p.A462D|CORO1B_ENST00000539724.1_5'UTR	p.A462D	NM_001018070.2	NP_001018080.1	Q9BR76	COR1B_HUMAN	BRCA - Breast invasive adenocarcinoma(15;3.26e-06)		12	1488	-			462					B2RD45	Missense_Mutation	SNP	ENST00000341356.5	37	c.1385C>A	CCDS8164.1	.	.	.	.	.	.	.	.	.	.	G	10.94	1.492621	0.26774	.	.	ENSG00000172725	ENST00000393893;ENST00000341356	T;T	0.61627	0.09;0.09	4.97	1.92	0.25849	.	0.424542	0.17480	N	0.172751	T	0.38401	0.1039	L	0.29908	0.895	0.21445	N	0.999684	B	0.06786	0.001	B	0.06405	0.002	T	0.15037	-1.0451	10	0.29301	T	0.29	-4.9948	4.9757	0.14138	0.0832:0.1455:0.6212:0.1501	.	462	Q9BR76	COR1B_HUMAN	D	462	ENSP00000377471:A462D;ENSP00000340211:A462D	ENSP00000340211:A462D	A	-	2	0	CORO1B	66962508	0.001000	0.12720	0.287000	0.24848	0.686000	0.39977	0.788000	0.26872	0.653000	0.30826	-0.320000	0.08662	GCC		0.682	CORO1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396220.1	NM_020441		7	59	1	0	2.7689e-08	0.248553	3.09465e-08	7	59					T	67205932	G	T	67205932	3	4	97	1	0	0	0	0	1	0	0	0	3754	1203	42	5	88	5	CORO1B	11	67205932	Missense_Mutation	SNP	G	TCGA-EJ-7785-01A-11D-2114-08		67205932	67800584	12	5464											
ZIC5	85416	broad.mit.edu	37	chr13	100617974	100617974	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ctcgaatcttgcagtagtagGgcttgtcactggtgtggaca	8	12	13	8	1	2	0	1	0	1	0	3	2	2	1	0	3	1	4	0	3	3	4			TCGA-EJ-7785-01A-11D-2114-08	TCGA-EJ-7785-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b2182a4-8ac1-4d66-be12-cdd906a100a2	f10f7adf-7754-44c5-97cf-66a7b5138f24	g.chr13:100617974G>C	ENST00000267294.4	-	2	1882	c.1649C>G	c.(1648-1650)cCc>cGc	p.P550R		NM_033132.3	NP_149123.2	Q96T25	ZIC5_HUMAN	Zic family member 5	550					cell differentiation (GO:0030154)|forebrain development (GO:0030900)|neural tube closure (GO:0001843)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|kidney(1)|lung(2)|prostate(1)|skin(2)	9	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					GCAGTAGTAGGGCTTGTCACT	0.493																																						ENST00000267294.4																			0				endometrium(3)|kidney(1)|lung(2)|prostate(1)|skin(2)	9						c.(1648-1650)cCc>cGc		Zic family member 5							197	173	181					13																	100617974		2203	4300	6503	SO:0001583	missense	85416				cell differentiation	nucleus	DNA binding|zinc ion binding	g.chr13:100617974G>C	AF378304	CCDS9494.2	13q32.2	2013-01-08	2011-05-19		ENSG00000139800	ENSG00000139800		"Zinc fingers, C2H2-type"	20322	protein-coding gene	gene with protein product			"Zic family member 5 (odd-paired homolog, Drosophila)"				Standard	NM_033132		Approved		uc001vom.1	Q96T25	OTTHUMG00000017280	ENST00000267294.4:c.1649C>G	13.37:g.100617974G>C	ENSP00000267294:p.Pro550Arg						p.P550R	NM_033132.3	NP_149123.2	Q96T25	ZIC5_HUMAN			2	1882	-	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		550					Q5VYB0	Missense_Mutation	SNP	ENST00000267294.4	37	c.1649C>G	CCDS9494.2	.	.	.	.	.	.	.	.	.	.	G	23.1	4.379946	0.82682	.	.	ENSG00000139800	ENST00000397451;ENST00000267294	T	0.20738	2.05	5.79	5.79	0.91817	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.48502	0.1503	M	0.66378	2.025	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.42447	-0.9451	9	0.87932	D	0	.	19.6578	0.95851	0.0:0.0:1.0:0.0	.	550	Q96T25	ZIC5_HUMAN	R	188;550	ENSP00000267294:P550R	ENSP00000267294:P550R	P	-	2	0	ZIC5	99415975	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.864000	0.99589	2.722000	0.93159	0.655000	0.94253	CCC		0.493	ZIC5-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000045623.3	NM_033132		19	81	0	0	0	0.539581	0	19	81					C	100617974	G	C	100617974	3	2	97	1	0	0	0	0	1	0	0	0	17679	1232	43	5	346	5	ZIC5	13	100617974	Missense_Mutation	SNP	G	TCGA-EJ-7785-01A-11D-2114-08		100617974	14551904	13	5465											
ADCY4	196883	broad.mit.edu	37	chr14	24792632	24792632	+	Frame_Shift_Del	DEL	G	G	-																															acacattgggagcttggaaaGggcagtctgatgatgttggg																										TCGA-EJ-7785-01A-11D-2114-08	TCGA-EJ-7785-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b2182a4-8ac1-4d66-be12-cdd906a100a2	f10f7adf-7754-44c5-97cf-66a7b5138f24	g.chr14:24792632delG	ENST00000310677.4	-	18	2188	c.2075delC	c.(2074-2076)cctfs	p.P692fs	ADCY4_ENST00000396747.3_Frame_Shift_Del_p.P385fs|ADCY4_ENST00000554068.2_Frame_Shift_Del_p.P692fs|ADCY4_ENST00000418030.2_Frame_Shift_Del_p.P692fs	NM_001198568.1|NM_001198592.1|NM_139247.3	NP_001185497.1|NP_001185521.1|NP_640340.2	Q8NFM4	ADCY4_HUMAN	adenylate cyclase 4	692					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cAMP biosynthetic process (GO:0006171)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(265;0.0192)		AGCTTGGAAAGGGCAGTCTGA	0.542																																						ENST00000310677.4																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						c.(2074-2076)ctfs		adenylate cyclase 4							76	54	62					14																	24792632		2194	4276	6470	SO:0001589	frameshift_variant	196883				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding|protein binding	g.chr14:24792632delG	AF497516	CCDS9627.1	14q11.2	2013-02-04			ENSG00000129467	ENSG00000129467	4.6.1.1	"Adenylate cyclases"	235	protein-coding gene	gene with protein product		600292				7766992	Standard	NM_001198592		Approved	AC4	uc001woy.3	Q8NFM4	OTTHUMG00000029347	ENST00000310677.4:c.2075delC	14.37:g.24792632delG	ENSP00000312126:p.Pro692fs					ADCY4_ENST00000396747.3_Frame_Shift_Del_p.P385fs|ADCY4_ENST00000554068.2_Frame_Shift_Del_p.P692fs|ADCY4_ENST00000418030.2_Frame_Shift_Del_p.P692fs	p.P692fs	NM_001198568.1|NM_001198592.1|NM_139247.3	NP_001185497.1|NP_001185521.1|NP_640340.2	Q8NFM4	ADCY4_HUMAN		GBM - Glioblastoma multiforme(265;0.0192)	18	2188	-			692					B3KV74|D3DS75|Q17R40|Q6ZTM6|Q96ML7	Frame_Shift_Del	DEL	ENST00000310677.4	37	c.2075delC	CCDS9627.1																																																																																				0.542	ADCY4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073200.4			2	4						2	4	---	---	---	---	-	24792632	G	-	24792632	7	5	97	1	0	1	0	1	0	0	0	0	296	1000	35	0	1194	0	ADCY4	14	24792632	Frame_Shift_Del	DEL	G	TCGA-EJ-7785-01A-11D-2114-08		24792632	82556908	14	5466											
SPTBN5	51332	broad.mit.edu	37	chr15	42162706	42162706	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gagggtggtctcggtgtctcGgagcgcgtggcctcgggcct	2	9	19	11	5	2	0	0	0	2	0	5	2	2	1	2	6	1	0	2	6	0	0	rs377166485		TCGA-EJ-7785-01A-11D-2114-08	TCGA-EJ-7785-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b2182a4-8ac1-4d66-be12-cdd906a100a2	f10f7adf-7754-44c5-97cf-66a7b5138f24	g.chr15:42162706G>A	ENST00000320955.6	-	30	5727	c.5500C>T	c.(5500-5502)Cga>Tga	p.R1834*		NM_016642.2	NP_057726.4	Q9NRC6	SPTN5_HUMAN	spectrin, beta, non-erythrocytic 5	1834					actin cytoskeleton organization (GO:0030036)|actin filament capping (GO:0051693)|axon guidance (GO:0007411)|Golgi organization (GO:0007030)|lysosomal transport (GO:0007041)|protein homooligomerization (GO:0051260)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|photoreceptor connecting cilium (GO:0032391)|photoreceptor disc membrane (GO:0097381)|spectrin (GO:0008091)	actin binding (GO:0003779)|dynactin binding (GO:0034452)|dynein intermediate chain binding (GO:0045505)|kinesin binding (GO:0019894)|myosin tail binding (GO:0032029)|protein self-association (GO:0043621)|spectrin binding (GO:0030507)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	62		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)		TCGGTGTCTCGGAGCGCGTGG	0.662																																						ENST00000320955.6																			0				NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	62						c.(5500-5502)Cga>Tga		spectrin, beta, non-erythrocytic 5		G	stop/ARG	0,4074		0,0,2037	69	74	72		5395	1.1	0	15		72	1,8359		0,1,4179	no	stop-gained	SPTBN5	NM_016642.2		0,1,6216	AA,AG,GG		0.012,0.0,0.0080		1799/3640	42162706	1,12433	2037	4180	6217	SO:0001587	stop_gained	51332				actin cytoskeleton organization|actin filament capping|axon guidance	cytosol|membrane|spectrin		g.chr15:42162706G>A	AF233523	CCDS61599.1	15q21	2010-08-17			ENSG00000137877	ENSG00000137877			15680	protein-coding gene	gene with protein product	"beta V spectrin"	605916				10764729	Standard	NM_016642		Approved	HUSPECV, BSPECV, HUBSPECV	uc001zos.4	Q9NRC6		ENST00000320955.6:c.5500C>T	15.37:g.42162706G>A	ENSP00000317790:p.Arg1834*						p.R1834*	NM_016642.2	NP_057726.4	Q9NRC6	SPTN5_HUMAN		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)	30	5727	-		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)	1834						Nonsense_Mutation	SNP	ENST00000320955.6	37	c.5500C>T		.	.	.	.	.	.	.	.	.	.	.	45	11.381725	0.99554	0.0	1.2E-4	ENSG00000137877	ENST00000320955	.	.	.	4.63	1.15	0.20763	.	1.327670	0.05615	N	0.578739	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.11794	T	0.64	.	10.9758	0.47465	0.0:0.0:0.2596:0.7404	.	.	.	.	X	1834	.	ENSP00000317790:R1834X	R	-	1	2	SPTBN5	39949998	0.009000	0.17119	0.043000	0.18650	0.027000	0.11550	-0.184000	0.09698	-0.004000	0.14419	0.655000	0.94253	CGA		0.662	SPTBN5-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000420237.1	NM_016642		7	43	0	0	0	0.335167	0	7	43					A	42162706	G	A	42162706	4	1	97	1	0	0	0	0	0	1	0	0	15121	1124	39	2	5680	2	SPTBN5	15	42162706	Nonsense_Mutation	SNP	G	TCGA-EJ-7785-01A-11D-2114-08		42162706	60368686	15	5467											
CYP19A1	1588	broad.mit.edu	37	chr15	51507372	51507372	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agacatggtgtcaggagctgCgatcagcatttccaatatgc	11	10	11	9	1	2	1	2	0	0	1	3	3	3	2	1	2	4	2	1	2	2	2			TCGA-EJ-7785-01A-11D-2114-08	TCGA-EJ-7785-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b2182a4-8ac1-4d66-be12-cdd906a100a2	f10f7adf-7754-44c5-97cf-66a7b5138f24	g.chr15:51507372C>T	ENST00000396402.1	-	8	1069	c.916G>A	c.(916-918)Gca>Aca	p.A306T	CYP19A1_ENST00000396404.4_Missense_Mutation_p.A306T|CYP19A1_ENST00000559878.1_Missense_Mutation_p.A306T|RP11-108K3.1_ENST00000559909.1_lincRNA|CYP19A1_ENST00000260433.2_Missense_Mutation_p.A306T	NM_000103.3	NP_000094.2	P11511	CP19A_HUMAN	cytochrome P450, family 19, subfamily A, polypeptide 1	306					androgen metabolic process (GO:0008209)|estrogen biosynthetic process (GO:0006703)|prostate gland growth (GO:0060736)|small molecule metabolic process (GO:0044281)|steroid biosynthetic process (GO:0006694)|steroid metabolic process (GO:0008202)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|membrane (GO:0016020)	aromatase activity (GO:0070330)|electron carrier activity (GO:0009055)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen (GO:0016712)|oxygen binding (GO:0019825)			endometrium(1)|kidney(4)|large_intestine(9)|lung(11)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	33				all cancers(107;0.000372)|GBM - Glioblastoma multiforme(94;0.0128)	Aminoglutethimide(DB00357)|Anastrozole(DB01217)|Betamethasone(DB00443)|Bifonazole(DB04794)|Buserelin(DB06719)|Carbimazole(DB00389)|Chlorphenesin(DB00856)|Clomifene(DB00882)|Clotrimazole(DB00257)|Cyproterone acetate(DB04839)|Danazol(DB01406)|Dexamethasone(DB01234)|Diethylstilbestrol(DB00255)|Dinoprostone(DB00917)|Drostanolone(DB00858)|Econazole(DB01127)|Edetic Acid(DB00974)|Etomidate(DB00292)|Exemestane(DB00990)|Ketoconazole(DB01026)|Letrozole(DB01006)|Levomethadyl Acetate(DB01227)|Levonorgestrel(DB00367)|Mefloquine(DB00358)|Melatonin(DB01065)|Methadone(DB00333)|Methyltestosterone(DB06710)|Miconazole(DB01110)|Nandrolone decanoate(DB08804)|Nandrolone phenpropionate(DB00984)|Nicotine(DB00184)|Paclitaxel(DB01229)|Raloxifene(DB00481)|Sulfathiazole(DB06147)|Tamoxifen(DB00675)|Terbinafine(DB00857)|Testolactone(DB00894)|Testosterone(DB00624)|Tioconazole(DB01007)|Trastuzumab(DB00072)	TCAGGAGCTGCGATCAGCATT	0.403																																					Melanoma(142;1016 1807 39614 48966 51721)	ENST00000396402.1																			0				endometrium(1)|kidney(4)|large_intestine(9)|lung(11)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	33						c.(916-918)Gca>Aca		cytochrome P450, family 19, subfamily A, polypeptide 1	Aminoglutethimide(DB00357)|Anastrozole(DB01217)|Conjugated Estrogens(DB00286)|Danazol(DB01406)|Diethylstilbestrol(DB00255)|Exemestane(DB00990)|Letrozole(DB01006)|Testolactone(DB00894)|Testosterone(DB00624)						131	124	126					15																	51507372		2196	4293	6489	SO:0001583	missense	0				estrogen biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|membrane fraction	aromatase activity|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity	g.chr15:51507372C>T	D14473	CCDS10139.1	15q21	2009-01-26	2003-02-14	2003-02-28	ENSG00000137869	ENSG00000137869		"Cytochrome P450s"	2594	protein-coding gene	gene with protein product		107910	"cytochrome P450, subfamily XIX (aromatization of androgens)"	CYP19		8477708	Standard	NM_031226		Approved	ARO, P-450AROM, CPV1, ARO1, CYAR, aromatase	uc001zza.4	P11511	OTTHUMG00000131747	ENST00000396402.1:c.916G>A	15.37:g.51507372C>T	ENSP00000379683:p.Ala306Thr					CYP19A1_ENST00000559878.1_Missense_Mutation_p.A306T|RP11-108K3.1_ENST00000559909.1_lincRNA|CYP19A1_ENST00000260433.2_Missense_Mutation_p.A306T|CYP19A1_ENST00000396404.4_Missense_Mutation_p.A306T	p.A306T	NM_000103.3	NP_000094.2	P11511	CP19A_HUMAN		all cancers(107;0.000372)|GBM - Glioblastoma multiforme(94;0.0128)	8	1069	-			306					Q16731|Q3B764|Q58FA0|Q8IYJ7	Missense_Mutation	SNP	ENST00000396402.1	37	c.916G>A	CCDS10139.1	.	.	.	.	.	.	.	.	.	.	C	33	5.272791	0.95429	.	.	ENSG00000137869	ENST00000396402;ENST00000260433;ENST00000396404;ENST00000420301;ENST00000439712	T;T;T;T	0.79247	-1.25;-1.25;-1.25;-1.25	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	D	0.90892	0.7138	M	0.89534	3.04	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	D	0.91686	0.5362	10	0.87932	D	0	-17.7292	20.3539	0.98825	0.0:1.0:0.0:0.0	.	306	P11511	CP19A_HUMAN	T	306	ENSP00000379683:A306T;ENSP00000260433:A306T;ENSP00000379685:A306T;ENSP00000390614:A306T	ENSP00000260433:A306T	A	-	1	0	CYP19A1	49294664	1.000000	0.71417	0.592000	0.28758	0.736000	0.42039	7.480000	0.81109	2.826000	0.97356	0.655000	0.94253	GCA		0.403	CYP19A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254669.1			17	40	0	0	0	0.557998	0	17	40					T	51507372	C	T	51507372	3	4	97	1	0	0	0	0	1	0	0	0	4148	768	27	1	607	1	CYP19A1	15	51507372	Missense_Mutation	SNP	C	TCGA-EJ-7785-01A-11D-2114-08	9344666	51507372	51024020	16	5468											
TMEM132E	124842	broad.mit.edu	37	chr17	32957047	32957047	+	Frame_Shift_Del	DEL	G	G	-																															gacacagagatcatcaacacGgccattctgactggccggac																								rs189572250		TCGA-EJ-7785-01A-11D-2114-08	TCGA-EJ-7785-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b2182a4-8ac1-4d66-be12-cdd906a100a2	f10f7adf-7754-44c5-97cf-66a7b5138f24	g.chr17:32957047delG	ENST00000321639.5	+	6	1417	c.1089delG	c.(1087-1089)acgfs	p.T363fs		NM_207313.1	NP_997196.1	Q6IEE7	T132E_HUMAN	transmembrane protein 132E	363						integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(28)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	57				BRCA - Breast invasive adenocarcinoma(366;0.231)		TCATCAACACGGCCATTCTGA	0.602																																						ENST00000321639.5																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(28)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	57						c.(1087-1089)acfs		transmembrane protein 132E							99	69	79					17																	32957047		2203	4300	6503	SO:0001589	frameshift_variant	124842					integral to membrane		g.chr17:32957047delG	BN000149	CCDS11283.1	17q12	2012-11-01			ENSG00000181291	ENSG00000181291			26991	protein-coding gene	gene with protein product							Standard	NM_207313		Approved		uc002hif.3	Q6IEE7	OTTHUMG00000132927	ENST00000321639.5:c.1089delG	17.37:g.32957047delG	ENSP00000316532:p.Thr363fs						p.T363fs	NM_207313.1	NP_997196.1	Q6IEE7	T132E_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.231)	6	1417	+			363					Q8WUF4|Q8WVA5	Frame_Shift_Del	DEL	ENST00000321639.5	37	c.1089delG	CCDS11283.1																																																																																				0.602	TMEM132E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256440.2	NM_207313		9	46						9	46	---	---	---	---	-	32957047	G	-	32957047	7	5	97	1	0	1	0	1	0	0	0	0	16045	1103	39	0	1111	0	TMEM132E	17	32957047	Frame_Shift_Del	DEL	G	TCGA-EJ-7785-01A-11D-2114-08		32957047	48238163	17	5469											
ANKFN1	162282	broad.mit.edu	37	chr17	54558083	54558083	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tctgaatctatggaaagtgtGgatcatacttctgactgccc	10	13	9	9	0	4	2	1	2	3	0	4	4	4	4	1	2	2	0	1	2	4	3			TCGA-EJ-7785-01A-11D-2114-08	TCGA-EJ-7785-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b2182a4-8ac1-4d66-be12-cdd906a100a2	f10f7adf-7754-44c5-97cf-66a7b5138f24	g.chr17:54558083G>A	ENST00000318698.2	+	16	2039	c.2004G>A	c.(2002-2004)gtG>gtA	p.V668V	ANKFN1_ENST00000566473.2_Silent_p.V668V	NM_153228.2	NP_694960.2	Q8N957	ANKF1_HUMAN	ankyrin-repeat and fibronectin type III domain containing 1	668										NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(11)|lung(27)|ovary(1)|prostate(1)|skin(1)	53						TGGAAAGTGTGGATCATACTT	0.413																																						ENST00000566473.2																			0				NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(11)|lung(27)|ovary(1)|prostate(1)|skin(1)	53						c.(2002-2004)gtG>gtA		ankyrin-repeat and fibronectin type III domain containing 1							183	172	175					17																	54558083		2203	4300	6503	SO:0001819	synonymous_variant	162282							g.chr17:54558083G>A	AK095654	CCDS32686.1	17q23.2	2014-02-12	2005-11-15		ENSG00000153930	ENSG00000153930		"Ankyrin repeat domain containing", "Fibronectin type III domain containing"	26766	protein-coding gene	gene with protein product							Standard	NM_153228		Approved	FLJ38335	uc002iun.1	Q8N957	OTTHUMG00000155010	ENST00000318698.2:c.2004G>A	17.37:g.54558083G>A						ANKFN1_ENST00000318698.2_Silent_p.V668V	p.V668V			Q8N957	ANKF1_HUMAN			16	2004	+			668						Silent	SNP	ENST00000318698.2	37	c.2004G>A	CCDS32686.1																																																																																				0.413	ANKFN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338043.1	NM_153228		13	116	0	0	0	0.435327	0	13	116					A	54558083	G	A	54558083	2	1	97	1	0	0	0	0	0	0	0	1	625	1335	47	3		3	ANKFN1	17	54558083	Silent	SNP	G	TCGA-EJ-7785-01A-11D-2114-08	21601036	54558083	26637127	18	5470											
CLTC	1213	broad.mit.edu	37	chr17	57733350	57733350	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgttactgcacctcatgaaGccacagctggaataattgga	12	11	9	9	0	1	1	1	1	0	0	1	3	1	3	2	2	4	3	2	2	4	4			TCGA-EJ-7785-01A-11D-2114-08	TCGA-EJ-7785-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b2182a4-8ac1-4d66-be12-cdd906a100a2	f10f7adf-7754-44c5-97cf-66a7b5138f24	g.chr17:57733350G>A	ENST00000269122.3	+	6	1205	c.931G>A	c.(931-933)Gcc>Acc	p.A311T	CLTC_ENST00000393043.1_Missense_Mutation_p.A311T|CLTC_ENST00000579456.1_Intron	NM_004859.3	NP_004850.1	Q00610	CLH1_HUMAN	clathrin, heavy chain (Hc)	311	Globular terminal domain.|WD40-like repeat 7.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|mitotic nuclear division (GO:0007067)|negative regulation of hyaluronan biosynthetic process (GO:1900126)|negative regulation of protein localization to plasma membrane (GO:1903077)|osteoblast differentiation (GO:0001649)|post-Golgi vesicle-mediated transport (GO:0006892)|receptor internalization (GO:0031623)|receptor-mediated endocytosis (GO:0006898)|transferrin transport (GO:0033572)	clathrin coat (GO:0030118)|clathrin coat of coated pit (GO:0030132)|clathrin coat of trans-Golgi network vesicle (GO:0030130)|clathrin complex (GO:0071439)|clathrin-coated endocytic vesicle membrane (GO:0030669)|clathrin-coated vesicle (GO:0030136)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|spindle (GO:0005819)|trans-Golgi network membrane (GO:0032588)|vesicle (GO:0031982)	clathrin light chain binding (GO:0032051)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|structural molecule activity (GO:0005198)	p.A311S(1)	CLTC/ALK(44)|CLTC/TFE3(2)	breast(2)|large_intestine(6)|ovary(1)	9	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)					ACCTCATGAAGCCACAGCTGG	0.378			T	"ALK, TFE3"	"ALCL, renal "																																	ENST00000269122.3				Dom	yes		17	17q11-qter	1213	T	"clathrin, heavy polypeptide (Hc)"			L	"ALK, TFE3"		"ALCL, renal "	CLTC/ALK(44)|CLTC/TFE3(2)	1	Substitution - Missense(1)	p.A311S(1)	lung(1)	breast(2)|large_intestine(6)|ovary(1)	9						c.(931-933)Gcc>Acc		clathrin, heavy chain (Hc)							115	114	115					17																	57733350		2203	4300	6503	SO:0001583	missense	1213				axon guidance|epidermal growth factor receptor signaling pathway|intracellular protein transport|mitosis|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|post-Golgi vesicle-mediated transport|receptor internalization|transferrin transport	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|cytosol|melanosome|spindle	protein binding|structural molecule activity	g.chr17:57733350G>A	X55878	CCDS32696.1, CCDS74115.1	17q23.1	2013-09-19	2006-09-29		ENSG00000141367	ENSG00000141367			2092	protein-coding gene	gene with protein product		118955	"clathrin, heavy polypeptide (Hc)", "clathrin, heavy chain", "clathrin, heavy polypeptide-like 2"	CLTCL2		1765375, 7584026	Standard	NM_004859		Approved	Hc	uc002ixq.1	Q00610	OTTHUMG00000134279	ENST00000269122.3:c.931G>A	17.37:g.57733350G>A	ENSP00000269122:p.Ala311Thr					CLTC_ENST00000393043.1_Missense_Mutation_p.A311T|CLTC_ENST00000579456.1_Intron	p.A311T	NM_004859.3	NP_004850.1	Q00610	CLH1_HUMAN			6	1205	+	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		311			Globular terminal domain.		D3DU00|Q6N0A0|Q86TF2	Missense_Mutation	SNP	ENST00000269122.3	37	c.931G>A	CCDS32696.1	.	.	.	.	.	.	.	.	.	.	G	16.50	3.140713	0.56936	.	.	ENSG00000141367	ENST00000269122;ENST00000393043	T;T	0.22134	1.97;1.97	5.73	5.73	0.89815	Clathrin, heavy chain, propeller, N-terminal (1);Clathrin, heavy chain, linker/propeller domain (1);	0.049421	0.85682	D	0.000000	T	0.26846	0.0657	L	0.55481	1.735	0.80722	D	1	B;B	0.18968	0.032;0.0	B;B	0.25140	0.058;0.012	T	0.02766	-1.1113	10	0.30078	T	0.28	.	19.9019	0.96988	0.0:0.0:1.0:0.0	.	311;311	Q00610;Q00610-2	CLH1_HUMAN;.	T	311	ENSP00000269122:A311T;ENSP00000376763:A311T	ENSP00000269122:A311T	A	+	1	0	CLTC	55088132	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.795000	0.62489	2.698000	0.92095	0.591000	0.81541	GCC		0.378	CLTC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258859.1	NM_004859		15	51	0	0	0	0.479597	0	15	51					A	57733350	G	A	57733350	3	1	97	1	0	0	0	0	1	0	0	0	3566	971	34	3	953	3	CLTC	17	57733350	Missense_Mutation	SNP	G	TCGA-EJ-7785-01A-11D-2114-08	3175267	57733350	23461860	19	5471											
GEMIN7	79760	broad.mit.edu	37	chr19	45593388	45593388	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agacaatgcaaactccagtgAacattcccgtgcctgtgctc	11	9	8	13	1	0	2	0	1	0	1	3	2	2	2	3	0	5	2	3	0	3	1			TCGA-EJ-7785-01A-11D-2114-08	TCGA-EJ-7785-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b2182a4-8ac1-4d66-be12-cdd906a100a2	f10f7adf-7754-44c5-97cf-66a7b5138f24	g.chr19:45593388A>G	ENST00000270257.4	+	3	263	c.16A>G	c.(16-18)Aac>Gac	p.N6D	CTB-179K24.3_ENST00000586744.1_RNA|PPP1R37_ENST00000421905.1_5'Flank|GEMIN7_ENST00000591747.1_Missense_Mutation_p.N6D|CTB-179K24.3_ENST00000586556.1_RNA|GEMIN7_ENST00000591607.1_Missense_Mutation_p.N6D|PPP1R37_ENST00000221462.4_5'Flank|GEMIN7_ENST00000391951.2_Missense_Mutation_p.N6D	NM_001007269.1|NM_001007270.1|NM_024707.2	NP_001007270.1|NP_001007271.1|NP_078983.1	Q9H840	GEMI7_HUMAN	gem (nuclear organelle) associated protein 7	6					gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|ncRNA metabolic process (GO:0034660)|RNA metabolic process (GO:0016070)|spliceosomal snRNP assembly (GO:0000387)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMN complex (GO:0032797)|SMN-Sm protein complex (GO:0034719)				endometrium(1)|kidney(1)|lung(4)|ovary(1)	7		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0131)		AACTCCAGTGAACATTCCCGT	0.577																																						ENST00000270257.4																			0				endometrium(1)|kidney(1)|lung(4)|ovary(1)	7						c.(16-18)Aac>Gac		gem (nuclear organelle) associated protein 7							93	103	100					19																	45593388		2203	4296	6499	SO:0001583	missense	0				ncRNA metabolic process|spliceosomal snRNP assembly	Cajal body|cytosol|spliceosomal complex	protein binding	g.chr19:45593388A>G	AK024018	CCDS12654.1	19q13.32	2008-02-05				ENSG00000142252			20045	protein-coding gene	gene with protein product		607419				12065586	Standard	NM_024707		Approved	FLJ13956	uc002pap.1	Q9H840		ENST00000270257.4:c.16A>G	19.37:g.45593388A>G	ENSP00000270257:p.Asn6Asp					GEMIN7_ENST00000391951.2_Missense_Mutation_p.N6D|GEMIN7_ENST00000591747.1_Missense_Mutation_p.N6D|GEMIN7_ENST00000591607.1_Missense_Mutation_p.N6D|CTB-179K24.4_ENST00000586744.1_RNA|CTB-179K24.3_ENST00000586556.1_RNA	p.N6D	NM_001007269.1|NM_001007270.1|NM_024707.2	NP_001007270.1|NP_001007271.1|NP_078983.1	Q9H840	GEMI7_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0131)	3	263	+		Ovarian(192;0.0728)|all_neural(266;0.112)	6					Q6IA34	Missense_Mutation	SNP	ENST00000270257.4	37	c.16A>G	CCDS12654.1	.	.	.	.	.	.	.	.	.	.	A	9.853	1.194246	0.22037	.	.	ENSG00000142252	ENST00000270257;ENST00000391951	.	.	.	4.3	-8.59	0.00893	.	1.732480	0.02806	N	0.123719	T	0.20780	0.0500	N	0.08118	0	0.09310	N	0.999999	B	0.02656	0.0	B	0.01281	0.0	T	0.20075	-1.0286	9	0.15066	T	0.55	-0.025	12.2327	0.54497	0.137:0.3509:0.5121:0.0	.	6	Q9H840	GEMI7_HUMAN	D	6	.	ENSP00000270257:N6D	N	+	1	0	GEMIN7	50285228	0.000000	0.05858	0.000000	0.03702	0.441000	0.31987	-1.298000	0.02756	-2.627000	0.00436	0.449000	0.29647	AAC		0.577	GEMIN7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457533.1			35	134	0	0	0	0.827153	0	35	134					G	45593388	A	G	45593388	3	3	97	1	0	0	0	0	1	0	0	0	6333	246	9	4	18	4	GEMIN7	19	45593388	Missense_Mutation	SNP	A	TCGA-EJ-7785-01A-11D-2114-08		45593388	13535595	20	5472											
NECAB3	63941	broad.mit.edu	37	chr20	32245753	32245753	+	Frame_Shift_Del	DEL	A	A	-																															gggtccaccgcatacctgggAagaacacagtggtgagggtg																										TCGA-EJ-7785-01A-11D-2114-08	TCGA-EJ-7785-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b2182a4-8ac1-4d66-be12-cdd906a100a2	f10f7adf-7754-44c5-97cf-66a7b5138f24	g.chr20:32245753delA	ENST00000246190.6	-	11	1212	c.1157delT	c.(1156-1158)ttcfs	p.F386fs	RP1-63M2.6_ENST00000607224.1_RNA|NECAB3_ENST00000375238.4_Frame_Shift_Del_p.F352fs|NECAB3_ENST00000606525.1_5'UTR	NM_031232.3	NP_112509.3	Q96P71	NECA3_HUMAN	N-terminal EF-hand calcium binding protein 3	386					protein metabolic process (GO:0019538)|protein secretion (GO:0009306)|regulation of amyloid precursor protein biosynthetic process (GO:0042984)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|Golgi cis cisterna (GO:0000137)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			large_intestine(3)|lung(5)|skin(2)	10						CATACCTGGGAAGAACACAGT	0.682																																						ENST00000246190.6																			0				large_intestine(3)|lung(5)|skin(2)	10						c.(1156-1158)tcfs		N-terminal EF-hand calcium binding protein 3							33	44	40					20																	32245753		2021	4150	6171	SO:0001589	frameshift_variant	63941				antibiotic biosynthetic process|protein metabolic process|protein secretion|regulation of amyloid precursor protein biosynthetic process	endoplasmic reticulum membrane|Golgi cis cisterna|nucleus	calcium ion binding|oxidoreductase activity|protein binding	g.chr20:32245753delA	AB039947	CCDS42866.1, CCDS42867.1	20q11.21	2013-01-10	2007-12-06	2007-12-06	ENSG00000125967	ENSG00000125967		"N-terminal EF-hand calcium binding proteins", "EF-hand domain containing"	15851	protein-coding gene	gene with protein product	"EF-hand calcium binding protein 3"	612478	"amyloid beta (A4) precursor protein-binding, family A, member 2 binding protein"	SYTIP2, APBA2BP		10833507	Standard	NM_031232		Approved	XB51, dJ63M2.4, NIP1, dJ63M2.5, EFCBP3	uc002wzn.4	Q96P71	OTTHUMG00000032264	ENST00000246190.6:c.1157delT	20.37:g.32245753delA	ENSP00000246190:p.Phe386fs					NECAB3_ENST00000606525.1_5'UTR|NECAB3_ENST00000375238.4_Frame_Shift_Del_p.F352fs	p.F386fs	NM_031232.3	NP_112509.3	Q96P71	NECA3_HUMAN			11	1212	-			386					A8K780|E1P5N2|Q5JWF5|Q5JWF6|Q5JWF7|Q86VV1|Q9H433|Q9H8G8|Q9HBW7|Q9HCQ9	Frame_Shift_Del	DEL	ENST00000246190.6	37	c.1157delT	CCDS42866.1																																																																																				0.682	NECAB3-010	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000078724.2			2	4						2	4	---	---	---	---	-	32245753	A	-	32245753	7	5	97	1	0	1	0	1	0	0	0	0	10306	246	9	0	41	0	NECAB3	20	32245753	Frame_Shift_Del	DEL	A	TCGA-EJ-7785-01A-11D-2114-08		32245753	30779767	21	5473											
EPB41L1	2036	broad.mit.edu	37	chr20	34766592	34766592	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggagatcaagaagcagatccGgagtgagtggcttgttgtgt	10	10	16	5	1	1	4	1	1	0	3	2	6	2	5	1	3	1	3	1	3	2	2			TCGA-EJ-7785-01A-11D-2114-08	TCGA-EJ-7785-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b2182a4-8ac1-4d66-be12-cdd906a100a2	f10f7adf-7754-44c5-97cf-66a7b5138f24	g.chr20:34766592G>A	ENST00000338074.2	+	5	649	c.488G>A	c.(487-489)cGg>cAg	p.R163Q	EPB41L1_ENST00000373946.3_Missense_Mutation_p.R132Q|EPB41L1_ENST00000373950.2_Missense_Mutation_p.R66Q|EPB41L1_ENST00000373941.1_Missense_Mutation_p.R163Q|EPB41L1_ENST00000202028.5_Missense_Mutation_p.R101Q|EPB41L1_ENST00000441639.1_Missense_Mutation_p.R101Q	NM_001258329.1|NM_012156.2	NP_001245258.1|NP_036288.2	Q9H4G0	E41L1_HUMAN	erythrocyte membrane protein band 4.1-like 1	163	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				cortical actin cytoskeleton organization (GO:0030866)|synaptic transmission (GO:0007268)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extrinsic component of membrane (GO:0019898)|plasma membrane (GO:0005886)	structural molecule activity (GO:0005198)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(10)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	37	Breast(12;0.0239)					AAGCAGATCCGGAGTGAGTGG	0.537																																						ENST00000338074.2																			0				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(10)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	37						c.(487-489)cGg>cAg		erythrocyte membrane protein band 4.1-like 1							127	137	133					20																	34766592		2203	4300	6503	SO:0001583	missense	2036				cortical actin cytoskeleton organization|synaptic transmission	cytoskeleton|cytosol|extrinsic to membrane|plasma membrane	actin binding|structural molecule activity	g.chr20:34766592G>A	AB002336	CCDS13271.1, CCDS13272.1, CCDS58771.1	20q11.2-q12	2003-03-17			ENSG00000088367	ENSG00000088367			3378	protein-coding gene	gene with protein product		602879				9570967, 9828140	Standard	NM_012156		Approved	KIAA0338	uc002xfb.3	Q9H4G0	OTTHUMG00000032378	ENST00000338074.2:c.488G>A	20.37:g.34766592G>A	ENSP00000337168:p.Arg163Gln					EPB41L1_ENST00000441639.1_Missense_Mutation_p.R101Q|EPB41L1_ENST00000373946.3_Missense_Mutation_p.R132Q|EPB41L1_ENST00000373941.1_Missense_Mutation_p.R163Q|EPB41L1_ENST00000373950.2_Missense_Mutation_p.R66Q|EPB41L1_ENST00000202028.5_Missense_Mutation_p.R101Q	p.R163Q	NM_001258329.1|NM_012156.2	NP_001245258.1|NP_036288.2	Q9H4G0	E41L1_HUMAN			5	649	+	Breast(12;0.0239)		163			FERM.		O15046|Q4VXM6|Q4VXM7|Q4VXM8|Q4VXN4|Q6ZT61|Q8IUU7|Q96CV5|Q96L65	Missense_Mutation	SNP	ENST00000338074.2	37	c.488G>A	CCDS13271.1	.	.	.	.	.	.	.	.	.	.	G	33	5.244083	0.95272	.	.	ENSG00000088367	ENST00000202028;ENST00000406771;ENST00000430276;ENST00000373950;ENST00000397315;ENST00000373951;ENST00000452261;ENST00000397307;ENST00000441639;ENST00000373946;ENST00000373945;ENST00000338074;ENST00000373941	T;T;T;T;T;T;T;T;T;T	0.76448	-0.64;-1.02;-0.64;-0.64;-0.64;-0.64;-0.64;-0.64;-0.64;-0.64	5.56	5.56	0.83823	FERM, N-terminal (1);Band 4.1 domain (1);FERM domain (1);FERM conserved site (1);	.	.	.	.	D	0.87382	0.6163	M	0.82630	2.6	0.58432	D	0.999992	D;D;B;D;D;D;P	0.89917	0.998;1.0;0.194;0.965;0.999;0.961;0.943	D;D;B;B;D;B;B	0.69479	0.931;0.964;0.212;0.431;0.928;0.325;0.331	D	0.88441	0.3042	9	0.87932	D	0	.	11.8776	0.52556	0.0805:0.0:0.9195:0.0	.	163;163;163;132;66;66;101	B7Z653;Q9H4G0;Q4VXN5;Q9H4G0-4;Q9H4G0-3;B3KUB6;Q9H4G0-2	.;E41L1_HUMAN;.;.;.;.;.	Q	101;163;101;66;163;66;163;101;101;132;101;163;163	ENSP00000202028:R101Q;ENSP00000385244:R163Q;ENSP00000404341:R101Q;ENSP00000363061:R66Q;ENSP00000413262:R163Q;ENSP00000399214:R101Q;ENSP00000363057:R132Q;ENSP00000363056:R101Q;ENSP00000337168:R163Q;ENSP00000363052:R163Q	ENSP00000202028:R101Q	R	+	2	0	EPB41L1	34230006	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	8.008000	0.88588	2.775000	0.95449	0.655000	0.94253	CGG		0.537	EPB41L1-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078978.3	NM_012156		30	123	0	0	0	0.804634	0	30	123					A	34766592	G	A	34766592	3	1	97	1	0	0	0	0	1	0	0	0	5152	1116	39	2	502	2	EPB41L1	20	34766592	Missense_Mutation	SNP	G	TCGA-EJ-7785-01A-11D-2114-08	2520839	34766592	28258928	22	5474											
KCNB1	3745	broad.mit.edu	37	chr20	48098569	48098569	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccgtagggtctcggcctcaCgcttgagctcctcgttcatc	4	11	10	16	4	3	1	2	1	1	0	7	1	4	1	3	2	1	4	3	2	1	3			TCGA-EJ-7785-01A-11D-2114-08	TCGA-EJ-7785-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b2182a4-8ac1-4d66-be12-cdd906a100a2	f10f7adf-7754-44c5-97cf-66a7b5138f24	g.chr20:48098569C>T	ENST00000371741.4	-	1	615	c.449G>A	c.(448-450)cGt>cAt	p.R150H		NM_004975.2	NP_004966.1	Q14721	KCNB1_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 1	150					energy reserve metabolic process (GO:0006112)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|dendrite membrane (GO:0032590)|neuronal cell body membrane (GO:0032809)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|outward rectifier potassium channel activity (GO:0015271)			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1)	53			BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		Dalfampridine(DB06637)	CTCGGCCTCACGCTTGAGCTC	0.577																																						ENST00000371741.4																			0				central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1)	53						c.(448-450)cGt>cAt		potassium voltage-gated channel, Shab-related subfamily, member 1							160	129	139					20																	48098569		2203	4300	6503	SO:0001583	missense	3745				energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity	g.chr20:48098569C>T	AF026005	CCDS13418.1	20q13.2	2012-07-05			ENSG00000158445	ENSG00000158445		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6231	protein-coding gene	gene with protein product		600397				7774931, 16382104	Standard	NM_004975		Approved	Kv2.1	uc002xur.1	Q14721	OTTHUMG00000033051	ENST00000371741.4:c.449G>A	20.37:g.48098569C>T	ENSP00000360806:p.Arg150His						p.R150H	NM_004975.2	NP_004966.1	Q14721	KCNB1_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		1	615	-			150					Q14193	Missense_Mutation	SNP	ENST00000371741.4	37	c.449G>A	CCDS13418.1	.	.	.	.	.	.	.	.	.	.	C	26.9	4.784237	0.90282	.	.	ENSG00000158445	ENST00000371741;ENST00000538812	D	0.96459	-4.02	5.15	5.15	0.70609	.	0.000000	0.85682	D	0.000000	D	0.94650	0.8275	L	0.58302	1.8	0.80722	D	1	P	0.44006	0.824	B	0.37304	0.246	D	0.94896	0.8052	10	0.51188	T	0.08	.	18.4287	0.90618	0.0:1.0:0.0:0.0	.	150	Q14721	KCNB1_HUMAN	H	150;105	ENSP00000360806:R150H	ENSP00000360806:R150H	R	-	2	0	KCNB1	47531976	1.000000	0.71417	0.969000	0.41365	0.992000	0.81027	7.651000	0.83577	2.676000	0.91093	0.563000	0.77884	CGT		0.577	KCNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080374.3	NM_004975		7	97	0	0	0	0.248553	0	7	97					T	48098569	C	T	48098569	3	4	97	1	0	0	0	0	1	0	0	0	8012	536	19	1	2135	1	KCNB1	20	48098569	Missense_Mutation	SNP	C	TCGA-EJ-7785-01A-11D-2114-08	13331977	48098569	14926951	23	5475											
CRYBB3	1417	broad.mit.edu	37	chr22	25599797	25599797	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tggagaagggggattatcctCgctgggatgcctggtccaac	8	9	15	9	1	0	1	0	0	0	1	3	4	2	3	3	5	2	1	3	5	3	1			TCGA-EJ-7785-01A-11D-2114-08	TCGA-EJ-7785-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b2182a4-8ac1-4d66-be12-cdd906a100a2	f10f7adf-7754-44c5-97cf-66a7b5138f24	g.chr22:25599797C>T	ENST00000215855.2	+	4	342	c.262C>T	c.(262-264)Cgc>Tgc	p.R88C	CRYBB3_ENST00000404334.1_Missense_Mutation_p.R88C	NM_004076.3	NP_004067.1	P26998	CRBB3_HUMAN	crystallin, beta B3	88	Beta/gamma crystallin 'Greek key' 2. {ECO:0000255|PROSITE-ProRule:PRU00028}.				visual perception (GO:0007601)		structural constituent of eye lens (GO:0005212)			large_intestine(2)|lung(2)|prostate(1)	5						GGATTATCCTCGCTGGGATGC	0.577																																						ENST00000215855.2																			0				large_intestine(2)|lung(2)|prostate(1)	5						c.(262-264)Cgc>Tgc		crystallin, beta B3							169	166	167					22																	25599797		2203	4300	6503	SO:0001583	missense	1417				visual perception		protein binding|structural constituent of eye lens	g.chr22:25599797C>T		CCDS13830.1	22q11.23	2008-06-10			ENSG00000100053	ENSG00000100053			2400	protein-coding gene	gene with protein product		123630		CRYB3		8999933	Standard	NM_004076		Approved		uc003abo.2	P26998	OTTHUMG00000150869	ENST00000215855.2:c.262C>T	22.37:g.25599797C>T	ENSP00000215855:p.Arg88Cys					CRYBB3_ENST00000404334.1_Missense_Mutation_p.R88C	p.R88C	NM_004076.3	NP_004067.1	P26998	CRBB3_HUMAN			4	342	+			88			Beta/gamma crystallin 'Greek key' 2.		Q3B7S9|Q3T1B7|Q6ISK6|Q92965|Q9UH09	Missense_Mutation	SNP	ENST00000215855.2	37	c.262C>T	CCDS13830.1	.	.	.	.	.	.	.	.	.	.	C	19.15	3.771975	0.69992	.	.	ENSG00000100053	ENST00000215855;ENST00000404334	T;T	0.76709	-1.04;-1.04	4.52	3.39	0.38822	Beta/gamma crystallin (5);Gamma-crystallin-related (1);	0.056276	0.64402	D	0.000001	D	0.83547	0.5278	L	0.49640	1.575	0.58432	D	0.999999	D	0.89917	1.0	D	0.73380	0.98	D	0.85515	0.1200	10	0.72032	D	0.01	.	13.9105	0.63864	0.1632:0.8368:0.0:0.0	.	88	P26998	CRBB3_HUMAN	C	88	ENSP00000215855:R88C;ENSP00000386123:R88C	ENSP00000215855:R88C	R	+	1	0	CRYBB3	23929797	1.000000	0.71417	0.999000	0.59377	0.971000	0.66376	4.385000	0.59613	2.048000	0.60808	0.471000	0.43371	CGC		0.577	CRYBB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320352.1	NM_004076		33	193	0	0	0	0.812448	0	33	193					T	25599797	C	T	25599797	3	4	97	1	0	0	0	0	1	0	0	0	3912	884	31	2	272	2	CRYBB3	22	25599797	Missense_Mutation	SNP	C	TCGA-EJ-7785-01A-11D-2114-08		25599797	25704769	24	5476											
SSX5	6758	broad.mit.edu	37	chrX	48054234	48054234	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acatagatgattttctccgaGgctttcatcttttcccactc	8	16	5	12	1	3	2	1	1	2	1	6	3	4	2	2	1	0	1	2	1	1	6			TCGA-EJ-7785-01A-11D-2114-08	TCGA-EJ-7785-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b2182a4-8ac1-4d66-be12-cdd906a100a2	f10f7adf-7754-44c5-97cf-66a7b5138f24	g.chrX:48054234G>A	ENST00000376923.1	-	2	125	c.126C>T	c.(124-126)gcC>gcT	p.A42A	SSX5_ENST00000347757.1_Silent_p.A42A|SSX5_ENST00000311798.1_Silent_p.A83A			O60225	SSX5_HUMAN	synovial sarcoma, X breakpoint 5	42	KRAB-related. {ECO:0000255|PROSITE- ProRule:PRU00120}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)			endometrium(3)|kidney(1)|large_intestine(6)|lung(7)|skin(1)	18						TTTTCTCCGAGGCTTTCATCT	0.388																																						ENST00000311798.1																			0				endometrium(3)|kidney(1)|large_intestine(6)|lung(7)|skin(1)	18						c.(247-249)gcC>gcT		synovial sarcoma, X breakpoint 5							132	113	120					X																	48054234		2203	4299	6502	SO:0001819	synonymous_variant	6758				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding	g.chrX:48054234G>A	BC016640	CCDS14288.1, CCDS14289.1	Xp11.23	2008-02-05			ENSG00000165583	ENSG00000165583			11339	protein-coding gene	gene with protein product		300327					Standard	NM_021015		Approved		uc004diz.1	O60225	OTTHUMG00000021471	ENST00000376923.1:c.126C>T	X.37:g.48054234G>A						SSX5_ENST00000376923.1_Silent_p.A42A|SSX5_ENST00000347757.1_Silent_p.A42A	p.A83A	NM_021015.3	NP_066295.3	O60225	SSX5_HUMAN			4	301	-			42			KRAB-related.		Q5JQ59|Q5JQ60|Q96AW3	Silent	SNP	ENST00000376923.1	37	c.249C>T	CCDS14289.1																																																																																				0.388	SSX5-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000056466.1	NM_021015		14	30	0	0	0	0.500413	0	14	30					A	48054234	G	A	48054234	2	1	97	1	0	0	0	0	0	0	0	1	15207	987	35	3		3	SSX5	23	48054234	Silent	SNP	G	TCGA-EJ-7785-01A-11D-2114-08		48054234	107216326	25	5477											
ZXDB	158586	broad.mit.edu	37	chrX	57619097	57619097	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccgctcctgcccagcagcccGggtgtctgatcgccccgcaa	5	6	11	19	4	1	1	0	1	1	0	3	1	2	1	6	1	3	3	6	1	1	0			TCGA-EJ-7785-01A-11D-2114-08	TCGA-EJ-7785-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b2182a4-8ac1-4d66-be12-cdd906a100a2	f10f7adf-7754-44c5-97cf-66a7b5138f24	g.chrX:57619097G>A	ENST00000374888.1	+	1	829	c.616G>A	c.(616-618)Ggg>Agg	p.G206R		NM_007157.3	NP_009088.1	P98169	ZXDB_HUMAN	zinc finger, X-linked, duplicated B	206					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)	p.G206R(2)		NS(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(2)|skin(6)	27						CCAGCAGCCCGGGTGTCTGAT	0.711																																						ENST00000374888.1																			2	Substitution - Missense(2)	p.G206R(2)	lung(1)|prostate(1)	NS(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(2)|skin(6)	27						c.(616-618)Ggg>Agg		zinc finger, X-linked, duplicated B							12	14	13					X																	57619097		2186	4257	6443	SO:0001583	missense	158586				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	g.chrX:57619097G>A	L14788	CCDS35313.1	Xp11.1	2013-01-08			ENSG00000198455	ENSG00000198455		"Zinc fingers, C2H2-type"	13199	protein-coding gene	gene with protein product		300236				8268913	Standard	NM_007157		Approved	ZNF905	uc004dvd.3	P98169	OTTHUMG00000021685	ENST00000374888.1:c.616G>A	X.37:g.57619097G>A	ENSP00000364023:p.Gly206Arg						p.G206R	NM_007157.3	NP_009088.1	P98169	ZXDB_HUMAN			1	829	+			206					A8K151|Q9UBB3	Missense_Mutation	SNP	ENST00000374888.1	37	c.616G>A	CCDS35313.1	.	.	.	.	.	.	.	.	.	.	.	0	-2.654782	0.00108	.	.	ENSG00000198455	ENST00000374888	T	0.11063	2.81	2.65	1.78	0.24846	.	0.160870	0.29602	N	0.011697	T	0.04452	0.0122	N	0.12182	0.205	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.41787	-0.9489	10	0.15952	T	0.53	.	4.3042	0.10938	0.3435:0.0:0.6565:0.0	.	206	P98169	ZXDB_HUMAN	R	206	ENSP00000364023:G206R	ENSP00000364023:G206R	G	+	1	0	ZXDB	57635822	0.000000	0.05858	0.002000	0.10522	0.045000	0.14185	-0.287000	0.08388	0.520000	0.28426	0.556000	0.70494	GGG		0.711	ZXDB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056922.1	NM_007157		3	12	0	0	0	0.150653	0	3	12					A	57619097	G	A	57619097	3	1	97	1	0	0	0	0	1	0	0	0	18248	1116	39	2	618	2	ZXDB	23	57619097	Missense_Mutation	SNP	G	TCGA-EJ-7785-01A-11D-2114-08	9564863	57619097	97651463	26	5478											
GPR112	139378	broad.mit.edu	37	chrX	135485423	135485423	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gaatcccggctatcatggtgGcaatcacagtcagtgtgaaa	12	9	11	9	1	3	1	3	1	0	0	4	2	4	1	1	3	0	2	1	3	4	1			TCGA-EJ-7785-01A-11D-2114-08	TCGA-EJ-7785-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b2182a4-8ac1-4d66-be12-cdd906a100a2	f10f7adf-7754-44c5-97cf-66a7b5138f24	g.chrX:135485423G>A	ENST00000394143.1	+	22	8887	c.8596G>A	c.(8596-8598)Gca>Aca	p.A2866T	GPR112_ENST00000412101.1_Missense_Mutation_p.A2661T|GPR112_ENST00000287534.4_Missense_Mutation_p.A2619T|GPR112_ENST00000394141.1_Missense_Mutation_p.A2661T|GPR112_ENST00000370652.1_Missense_Mutation_p.A2866T	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	2866					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.A2866T(1)		NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					TATCATGGTGGCAATCACAGT	0.488																																						ENST00000394143.1																			1	Substitution - Missense(1)	p.A2866T(1)	kidney(1)	NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199						c.(8596-8598)Gca>Aca		G protein-coupled receptor 112							135	96	109					X																	135485423		2203	4300	6503	SO:0001583	missense	139378				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chrX:135485423G>A	AY140954	CCDS35409.1	Xq26.3	2014-08-08			ENSG00000156920	ENSG00000156920		"-", "GPCR / Class B : Orphans"	18992	protein-coding gene	gene with protein product						12435584	Standard	XM_005262367		Approved	RP1-299I16, PGR17	uc004ezu.1	Q8IZF6	OTTHUMG00000022508	ENST00000394143.1:c.8596G>A	X.37:g.135485423G>A	ENSP00000377699:p.Ala2866Thr					GPR112_ENST00000287534.4_Missense_Mutation_p.A2619T|GPR112_ENST00000412101.1_Missense_Mutation_p.A2661T|GPR112_ENST00000394141.1_Missense_Mutation_p.A2661T|GPR112_ENST00000370652.1_Missense_Mutation_p.A2866T	p.A2866T	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN			22	8887	+	Acute lymphoblastic leukemia(192;0.000127)		2866					A2A2J1|A2A2J2|Q5EGP2|Q86SM6	Missense_Mutation	SNP	ENST00000394143.1	37	c.8596G>A	CCDS35409.1	.	.	.	.	.	.	.	.	.	.	G	11.71	1.719336	0.30503	.	.	ENSG00000156920	ENST00000394143;ENST00000370652;ENST00000412101;ENST00000287534;ENST00000394141	T;T;T;T;T	0.37235	1.21;1.21;1.21;1.21;1.21	5.67	4.72	0.59763	GPCR, family 2-like (1);	.	.	.	.	T	0.32941	0.0846	L	0.37561	1.115	0.21897	N	0.999482	B;B	0.22146	0.065;0.026	B;B	0.29353	0.046;0.101	T	0.31833	-0.9929	9	0.66056	D	0.02	.	11.4207	0.49980	0.0965:0.0:0.9035:0.0	.	2661;2866	Q8IZF6-3;Q8IZF6	.;GP112_HUMAN	T	2866;2866;2661;2619;2661	ENSP00000377699:A2866T;ENSP00000359686:A2866T;ENSP00000416526:A2661T;ENSP00000287534:A2619T;ENSP00000377697:A2661T	ENSP00000287534:A2619T	A	+	1	0	GPR112	135313089	1.000000	0.71417	0.498000	0.27564	0.602000	0.36980	3.934000	0.56553	1.108000	0.41662	0.600000	0.82982	GCA		0.488	GPR112-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000286639.1			3	24	0	0	0	0.150653	0	3	24					A	135485423	G	A	135485423	3	1	97	1	0	0	0	0	1	0	0	0	6629	1203	42	3	8670	3	GPR112	23	135485423	Missense_Mutation	SNP	G	TCGA-EJ-7785-01A-11D-2114-08	77866326	135485423	19785137	27	5479											
PADI3	51702	broad.mit.edu	37	chr1	17599863	17599863	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagctgggctacgttcaggCgccgcacaagaccctcccgg	7	5	14	15	4	1	1	1	0	0	1	2	2	2	2	3	4	2	4	3	4	2	2			TCGA-EJ-7786-01A-11D-2114-08	TCGA-EJ-7786-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090a3fe0-0591-40bd-80fc-485baf11cc56	8d1ae986-87cd-496a-956f-5dfe60cea2e7	g.chr1:17599863C>T	ENST00000375460.3	+	10	1116	c.1076C>T	c.(1075-1077)gCg>gTg	p.A359V		NM_016233.2	NP_057317.2	Q9ULW8	PADI3_HUMAN	peptidyl arginine deiminase, type III	359					protein citrullination (GO:0018101)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|protein-arginine deiminase activity (GO:0004668)			breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|liver(2)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;1.17e-05)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	L-Citrulline(DB00155)	TACGTTCAGGCGCCGCACAAG	0.602																																						ENST00000375460.3																			0				breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|liver(2)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(1075-1077)gCg>gTg		peptidyl arginine deiminase, type III	L-Citrulline(DB00155)						60	59	60					1																	17599863		2203	4300	6503	SO:0001583	missense	51702				peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity	g.chr1:17599863C>T	AB026831	CCDS179.1	1p36.13	2008-02-05			ENSG00000142619	ENSG00000142619	3.5.3.15	"Peptidyl arginine deiminases"	18337	protein-coding gene	gene with protein product		606755				11069618	Standard	NM_016233		Approved	PDI3	uc001bai.3	Q9ULW8	OTTHUMG00000002373	ENST00000375460.3:c.1076C>T	1.37:g.17599863C>T	ENSP00000364609:p.Ala359Val						p.A359V	NM_016233.2	NP_057317.2	Q9ULW8	PADI3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;1.17e-05)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	10	1116	+		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)	359					Q58EY7|Q70SX5	Missense_Mutation	SNP	ENST00000375460.3	37	c.1076C>T	CCDS179.1	.	.	.	.	.	.	.	.	.	.	C	31	5.068411	0.93950	.	.	ENSG00000142619	ENST00000375460	T	0.32753	1.44	5.31	5.31	0.75309	Protein-arginine deiminase, C-terminal (1);	0.070468	0.64402	D	0.000017	T	0.36963	0.0986	M	0.80746	2.51	0.58432	D	0.999993	P	0.39903	0.694	B	0.33620	0.167	T	0.38156	-0.9674	10	0.37606	T	0.19	-38.6779	17.5191	0.87782	0.0:1.0:0.0:0.0	.	359	Q9ULW8	PADI3_HUMAN	V	359	ENSP00000364609:A359V	ENSP00000364609:A359V	A	+	2	0	PADI3	17472450	1.000000	0.71417	0.987000	0.45799	0.742000	0.42306	7.223000	0.78033	2.465000	0.83290	0.511000	0.50034	GCG		0.602	PADI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006805.1			4	71	0	0	0	1	0	4	71					T	17599863	C	T	17599863	3	4	98	1	0	0	0	0	1	0	0	0	11379	768	27	1	1114	1	PADI3	1	17599863	Missense_Mutation	SNP	C	TCGA-EJ-7786-01A-11D-2114-08		17599863	231650758	1	5480											
KIF17	57576	broad.mit.edu	37	chr1	21040007	21040007	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acatcttcattgtagatctcCaggtaggaggcccggaccag	10	9	11	11	1	3	1	1	0	2	1	4	3	3	3	3	4	0	2	3	4	2	4			TCGA-EJ-7786-01A-11D-2114-08	TCGA-EJ-7786-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090a3fe0-0591-40bd-80fc-485baf11cc56	8d1ae986-87cd-496a-956f-5dfe60cea2e7	g.chr1:21040007C>G	ENST00000247986.2	-	3	730	c.420G>C	c.(418-420)ctG>ctC	p.L140L	KIF17_ENST00000375044.1_Silent_p.L40L|KIF17_ENST00000400463.3_Silent_p.L140L			Q9P2E2	KIF17_HUMAN	kinesin family member 17	140	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|cell projection organization (GO:0030030)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|neurogenesis (GO:0022008)|protein complex localization (GO:0031503)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|intraciliary transport particle B (GO:0030992)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|plus-end-directed microtubule motor activity (GO:0008574)			NS(2)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50		all_lung(284;2.99e-05)|Lung NSC(340;3.26e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|COAD - Colon adenocarcinoma(152;1.43e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000168)|Kidney(64;0.000221)|GBM - Glioblastoma multiforme(114;0.000651)|KIRC - Kidney renal clear cell carcinoma(64;0.0031)|STAD - Stomach adenocarcinoma(196;0.00336)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.209)		TGTAGATCTCCAGGTAGGAGG	0.582																																						ENST00000247986.2																			0				NS(2)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50						c.(418-420)ctG>ctC		kinesin family member 17							71	64	66					1																	21040007		2203	4300	6503	SO:0001819	synonymous_variant	57576				microtubule-based movement|protein transport	cytoplasm|microtubule	ATP binding	g.chr1:21040007C>G	AB037826	CCDS213.1, CCDS44079.1, CCDS72722.1	1p36.13	2012-08-01			ENSG00000117245	ENSG00000117245		"Kinesins"	19167	protein-coding gene	gene with protein product	"kinesin-like protein KIF17", "KIF3-related motor protein", "KIF17 variant protein"	605037				10846156	Standard	XR_241202		Approved	KIAA1405, KIF3X, KIF17B, OSM-3, KLP-2	uc001bdr.4	Q9P2E2	OTTHUMG00000002863	ENST00000247986.2:c.420G>C	1.37:g.21040007C>G						KIF17_ENST00000400463.3_Silent_p.L140L|KIF17_ENST00000375044.1_Silent_p.L40L	p.L140L			Q9P2E2	KIF17_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|COAD - Colon adenocarcinoma(152;1.43e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000168)|Kidney(64;0.000221)|GBM - Glioblastoma multiforme(114;0.000651)|KIRC - Kidney renal clear cell carcinoma(64;0.0031)|STAD - Stomach adenocarcinoma(196;0.00336)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.209)	3	730	-		all_lung(284;2.99e-05)|Lung NSC(340;3.26e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)	140			Kinesin-motor.		A2A3Q7|A2A3Q8|O95077|Q53YS6|Q5VWA9|Q6GSA8|Q8N411	Silent	SNP	ENST00000247986.2	37	c.420G>C	CCDS213.1																																																																																				0.582	KIF17-009	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276995.1	NM_020816		3	43	0	0	0	1	0	3	43					G	21040007	C	G	21040007	2	3	98	1	0	0	0	0	0	0	0	1	8279	581	21	5		5	KIF17	1	21040007	Silent	SNP	C	TCGA-EJ-7786-01A-11D-2114-08	3440144	21040007	228210614	2	5481											
TMEM48	55706	broad.mit.edu	37	chr1	54284690	54284690	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tttctaaccaggaacagtgaTtccacacaactgtgtttaac	13	12	6	10	0	1	1	0	1	1	0	2	2	2	2	2	1	4	1	2	1	4	5			TCGA-EJ-7786-01A-11D-2114-08	TCGA-EJ-7786-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090a3fe0-0591-40bd-80fc-485baf11cc56	8d1ae986-87cd-496a-956f-5dfe60cea2e7	g.chr1:54284690T>C	ENST00000371429.3	-	6	1255	c.657A>G	c.(655-657)gaA>gaG	p.E219E	NDC1_ENST00000480952.1_5'UTR|NDC1_ENST00000540001.1_Silent_p.E219E|NDC1_ENST00000537333.1_5'UTR|NDC1_ENST00000234725.8_Silent_p.E104E	NM_001168551.1|NM_018087.4	NP_001162023.1|NP_060557.3	Q9BTX1	NDC1_HUMAN	NDC1 transmembrane nucleoporin	219					mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|nuclear pore distribution (GO:0031081)|protein transport (GO:0015031)|spermatogenesis (GO:0007283)|synapsis (GO:0007129)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear pore (GO:0005643)	structural constituent of nuclear pore (GO:0017056)										GGAACAGTGATTCCACACAAC	0.318																																						ENST00000371429.3																			0											c.(655-657)gaA>gaG		NDC1 transmembrane nucleoporin							60	60	60					1																	54284690		2203	4298	6501	SO:0001819	synonymous_variant	55706							g.chr1:54284690T>C	AL354613	CCDS583.1	1p32.3	2014-01-28	2013-05-23	2013-05-23	ENSG00000058804	ENSG00000058804			25525	protein-coding gene	gene with protein product	"nuclear division cycle 1 homolog (S. cerevisiae)"	610115	"transmembrane protein 48"	TMEM48		16779818, 12958361	Standard	NR_033142		Approved	FLJ10407, NET3		Q9BTX1	OTTHUMG00000008073	ENST00000371429.3:c.657A>G	1.37:g.54284690T>C						NDC1_ENST00000537333.1_5'UTR|NDC1_ENST00000540001.1_Silent_p.E219E|NDC1_ENST00000234725.8_Silent_p.E104E|NDC1_ENST00000480952.1_5'UTR	p.E219E	NM_001168551.1|NM_018087.4	NP_001162023.1|NP_060557.3					6	1255	-								B4DHA3|B4DQQ5|G3XA81|Q8NB76|Q9H9T6|Q9NSG3|Q9NSG4|Q9NVZ7	Silent	SNP	ENST00000371429.3	37	c.657A>G	CCDS583.1																																																																																				0.318	NDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022101.1	NM_018087		3	34	0	0	0	1	0	3	34					C	54284690	T	C	54284690	2	2	98	1	0	0	0	0	0	0	0	1	16169	1490	52	4		4	TMEM48	1	54284690	Silent	SNP	T	TCGA-EJ-7786-01A-11D-2114-08	33244683	54284690	194965931	3	5482											
USP33	23032	broad.mit.edu	37	chr1	78194272	78194272	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tgaaaatctacatccgactgGctcttgtcttcttccattgt	8	16	6	11	1	4	1	0	1	4	0	6	2	6	1	2	1	1	1	2	1	3	5			TCGA-EJ-7786-01A-11D-2114-08	TCGA-EJ-7786-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090a3fe0-0591-40bd-80fc-485baf11cc56	8d1ae986-87cd-496a-956f-5dfe60cea2e7	g.chr1:78194272G>A	ENST00000370793.1	-	11	1282	c.936C>T	c.(934-936)agC>agT	p.S312S	USP33_ENST00000357428.1_Silent_p.S312S|USP33_ENST00000370792.3_Silent_p.S312S|USP33_ENST00000370794.3_Silent_p.S281S	NM_015017.4	NP_055832.3	Q8TEY7	UBP33_HUMAN	ubiquitin specific peptidase 33	312	USP.				axon guidance (GO:0007411)|cell migration (GO:0016477)|centrosome duplication (GO:0051298)|endocytosis (GO:0006897)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|ubiquitin-dependent protein catabolic process (GO:0006511)	cell body (GO:0044297)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|VCB complex (GO:0030891)	cysteine-type endopeptidase activity (GO:0004197)|G-protein coupled receptor binding (GO:0001664)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|prostate(2)|urinary_tract(1)	44						CATCCGACTGGCTCTTGTCTT	0.378																																					Melanoma(152;72 1870 11110 26780 42647)	ENST00000370793.1																			0				breast(1)|central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|prostate(2)|urinary_tract(1)	44						c.(934-936)agC>agT		ubiquitin specific peptidase 33							189	160	170					1																	78194272		2203	4300	6503	SO:0001819	synonymous_variant	23032				axon guidance|cell migration|endocytosis|protein K48-linked deubiquitination|protein K63-linked deubiquitination|regulation of G-protein coupled receptor protein signaling pathway|ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm|VCB complex	cysteine-type endopeptidase activity|G-protein-coupled receptor binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding	g.chr1:78194272G>A	AF383173	CCDS678.1, CCDS679.1, CCDS680.1	1p31	2008-02-05	2005-08-08		ENSG00000077254	ENSG00000077254		"Ubiquitin-specific peptidases"	20059	protein-coding gene	gene with protein product		615146	"ubiquitin specific protease 33"			12838346	Standard	NM_015017		Approved	KIAA1097, VDU1	uc001dht.4	Q8TEY7	OTTHUMG00000009651	ENST00000370793.1:c.936C>T	1.37:g.78194272G>A						USP33_ENST00000370794.3_Silent_p.S281S|USP33_ENST00000357428.1_Silent_p.S312S|USP33_ENST00000370792.3_Silent_p.S312S	p.S312S	NM_015017.4	NP_055832.3	Q8TEY7	UBP33_HUMAN			11	1282	-			312					Q8TEY6|Q96AV6|Q9H9F0|Q9UPQ5	Silent	SNP	ENST00000370793.1	37	c.936C>T	CCDS678.1																																																																																				0.378	USP33-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000026923.2	NM_015017		9	86	0	0	0	1	0	9	86					A	78194272	G	A	78194272	2	1	98	1	0	0	0	0	0	0	0	1	17061	1194	42	3		3	USP33	1	78194272	Silent	SNP	G	TCGA-EJ-7786-01A-11D-2114-08	23909582	78194272	171056349	4	5483											
COL11A1	1301	broad.mit.edu	37	chr1	103427811	103427811	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tccctgagataccttgaggaCctggatcaccctaaagaata	13	9	8	11	0	1	3	1	2	0	2	2	6	2	5	4	2	1	0	4	2	5	4			TCGA-EJ-7786-01A-11D-2114-08	TCGA-EJ-7786-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090a3fe0-0591-40bd-80fc-485baf11cc56	8d1ae986-87cd-496a-956f-5dfe60cea2e7	g.chr1:103427811C>A	ENST00000370096.3	-	40	3347	c.3035G>T	c.(3034-3036)gGt>gTt	p.G1012V	COL11A1_ENST00000512756.1_Missense_Mutation_p.G896V|COL11A1_ENST00000358392.2_Missense_Mutation_p.G1024V|COL11A1_ENST00000353414.4_Missense_Mutation_p.G973V	NM_001854.3	NP_001845.3	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	1012	Triple-helical region.				cartilage condensation (GO:0001502)|chondrocyte development (GO:0002063)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|embryonic skeletal system morphogenesis (GO:0048704)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|proteoglycan metabolic process (GO:0006029)|sensory perception of sound (GO:0007605)|tendon development (GO:0035989)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visual perception (GO:0007601)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)	p.G1012V(1)|p.G1024V(1)		NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		ACCTTGAGGACCTGGATCACC	0.388																																						ENST00000358392.2																			2	Substitution - Missense(2)	p.G1012V(1)|p.G1024V(1)	lung(2)	NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258						c.(3070-3072)gGt>gTt		collagen, type XI, alpha 1							80	81	81					1																	103427811		2203	4300	6503	SO:0001583	missense	1301				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging	g.chr1:103427811C>A	J04177	CCDS778.1, CCDS780.1, CCDS780.2, CCDS53348.1	1p21	2013-01-16			ENSG00000060718	ENSG00000060718		"Collagens"	2186	protein-coding gene	gene with protein product	"collagen XI, alpha-1 polypeptide"	120280		COLL6		3182841	Standard	NM_080630		Approved	STL2, CO11A1	uc001dul.3	P12107	OTTHUMG00000010872	ENST00000370096.3:c.3035G>T	1.37:g.103427811C>A	ENSP00000359114:p.Gly1012Val					COL11A1_ENST00000512756.1_Missense_Mutation_p.G896V|COL11A1_ENST00000370096.3_Missense_Mutation_p.G1012V|COL11A1_ENST00000353414.4_Missense_Mutation_p.G973V	p.G1024V	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)	40	3388	-		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)	1012			Triple-helical region.		B1ASK7|D3DT73|E9PCU0|Q14034|Q149N0|Q9UIT4|Q9UIT5|Q9UIT6	Missense_Mutation	SNP	ENST00000370096.3	37	c.3071G>T	CCDS778.1	.	.	.	.	.	.	.	.	.	.	C	19.13	3.766944	0.69878	.	.	ENSG00000060718	ENST00000370096;ENST00000358392;ENST00000353414;ENST00000370090;ENST00000512756	D;D;D;D	0.99532	-6.1;-6.1;-6.1;-6.1	5.37	5.37	0.77165	.	0.060994	0.64402	D	0.000003	D	0.99834	0.9925	H	0.97340	3.985	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.999;0.999;0.999;0.998;0.998	D	0.96978	0.9713	10	0.59425	D	0.04	.	19.1062	0.93296	0.0:1.0:0.0:0.0	.	896;973;1024;1012;232	E9PCU0;P12107-3;P12107-2;P12107;F5H5Z5	.;.;.;COBA1_HUMAN;.	V	1012;1024;973;232;896	ENSP00000359114:G1012V;ENSP00000351163:G1024V;ENSP00000302551:G973V;ENSP00000426533:G896V	ENSP00000302551:G973V	G	-	2	0	COL11A1	103200399	1.000000	0.71417	0.998000	0.56505	0.994000	0.84299	7.425000	0.80255	2.509000	0.84616	0.557000	0.71058	GGT		0.388	COL11A1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000029997.1	NM_080630		5	81	1	0	0.184627	1	0.192894	5	81					A	103427811	C	A	103427811	3	1	98	1	0	0	0	0	1	0	0	0	3667	507	18	5	2497	5	COL11A1	1	103427811	Missense_Mutation	SNP	C	TCGA-EJ-7786-01A-11D-2114-08	25233539	103427811	145822810	5	5484											
AMPD1	270	broad.mit.edu	37	chr1	115223006	115223006	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cattaggatagacgtaaactAcaccgtccttcattttgagg	12	12	8	9	2	1	2	1	1	0	1	2	3	2	3	2	2	2	1	2	2	5	7			TCGA-EJ-7786-01A-11D-2114-08	TCGA-EJ-7786-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090a3fe0-0591-40bd-80fc-485baf11cc56	8d1ae986-87cd-496a-956f-5dfe60cea2e7	g.chr1:115223006A>G	ENST00000520113.2	-	6	755	c.740T>C	c.(739-741)gTa>gCa	p.V247A	AMPD1_ENST00000369538.3_Missense_Mutation_p.V243A|AMPD1_ENST00000353928.6_Missense_Mutation_p.V214A			P23109	AMPD1_HUMAN	adenosine monophosphate deaminase 1	247					IMP salvage (GO:0032264)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine-containing compound salvage (GO:0043101)|response to organic substance (GO:0010033)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	AMP deaminase activity (GO:0003876)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(3)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	45	all_epithelial(7;7.83e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	Adenosine monophosphate(DB00131)	GACGTAAACTACACCGTCCTT	0.443																																						ENST00000369538.3																			0				NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(3)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	45						c.(727-729)gTa>gCa		adenosine monophosphate deaminase 1	Adenosine monophosphate(DB00131)						174	163	167					1																	115223006		2203	4300	6503	SO:0001583	missense	270				purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding	g.chr1:115223006A>G	M60092	CCDS876.1, CCDS876.2, CCDS53349.1	1p13	2010-02-10	2010-02-10		ENSG00000116748	ENSG00000116748	3.5.4.6		468	protein-coding gene	gene with protein product	"AMPD isoform M", "skeletal muscle AMPD"	102770	"adenosine monophosphate deaminase 1 (isoform M)"			1400401	Standard	NM_001172626		Approved	MAD, MADA	uc001efe.2	P23109	OTTHUMG00000011892	ENST00000520113.2:c.740T>C	1.37:g.115223006A>G	ENSP00000430075:p.Val247Ala					AMPD1_ENST00000520113.2_Missense_Mutation_p.V247A|AMPD1_ENST00000353928.6_Missense_Mutation_p.V214A	p.V243A	NM_001172626.1	NP_001166097.1	P23109	AMPD1_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	5	775	-	all_epithelial(7;7.83e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)	214					A8K5N4|B2RAM1|F2Z3B3|Q5TF00|Q5TF02	Missense_Mutation	SNP	ENST00000520113.2	37	c.728T>C	CCDS876.2	.	.	.	.	.	.	.	.	.	.	A	16.26	3.072879	0.55646	.	.	ENSG00000116748	ENST00000520113;ENST00000369538;ENST00000353928	D;D;D	0.91407	-2.84;-2.84;-2.84	6.07	6.07	0.98685	.	0.224065	0.44902	D	0.000401	D	0.90390	0.6992	M	0.87180	2.865	0.58432	D	0.999999	B;B	0.30824	0.296;0.229	B;B	0.33521	0.165;0.162	D	0.90803	0.4695	10	0.87932	D	0	-12.7583	16.635	0.85050	1.0:0.0:0.0:0.0	.	243;214	Q5TF02;P23109	.;AMPD1_HUMAN	A	247;243;214	ENSP00000430075:V247A;ENSP00000358551:V243A;ENSP00000316520:V214A	ENSP00000316520:V214A	V	-	2	0	AMPD1	115024529	0.999000	0.42202	0.334000	0.25495	0.420000	0.31355	9.297000	0.96120	2.330000	0.79161	0.477000	0.44152	GTA		0.443	AMPD1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000032860.4			30	101	0	0	0	1	0	30	101					G	115223006	A	G	115223006	3	3	98	1	0	0	0	0	1	0	0	0	585	391	14	4	1646	4	AMPD1	1	115223006	Missense_Mutation	SNP	A	TCGA-EJ-7786-01A-11D-2114-08	11795195	115223006	134027615	6	5485											
C1orf189	388701	broad.mit.edu	37	chr1	154173060	154173060	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acagtgagtatgtgaatttcGccacctgctccaggtacaga	11	10	10	10	1	0	3	0	2	0	1	2	3	1	3	3	1	2	3	3	1	3	3	rs376232052		TCGA-EJ-7786-01A-11D-2114-08	TCGA-EJ-7786-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090a3fe0-0591-40bd-80fc-485baf11cc56	8d1ae986-87cd-496a-956f-5dfe60cea2e7	g.chr1:154173060G>A	ENST00000368525.3	-	3	104	c.79C>T	c.(79-81)Cga>Tga	p.R27*		NM_001010979.1	NP_001010979.1	Q5VU69	CA189_HUMAN	chromosome 1 open reading frame 189	27										kidney(1)|large_intestine(3)|lung(1)|skin(2)	7	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)					TGTGAATTTCGCCACCTGCTC	0.483																																						ENST00000368525.3																			0				kidney(1)|large_intestine(3)|lung(1)|skin(2)	7						c.(79-81)Cga>Tga		chromosome 1 open reading frame 189		G	stop/ARG	0,4406		0,0,2203	195	183	187		79	3.8	1	1		187	1,8599	1.2+/-3.3	0,1,4299	no	stop-gained	C1orf189	NM_001010979.1		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		27/102	154173060	1,13005	2203	4300	6503	SO:0001587	stop_gained	388701							g.chr1:154173060G>A		CCDS30876.1	1q21.3	2012-07-27			ENSG00000163263	ENSG00000163263			32305	protein-coding gene	gene with protein product							Standard	NM_001010979		Approved		uc001fee.2	Q5VU69	OTTHUMG00000035982	ENST00000368525.3:c.79C>T	1.37:g.154173060G>A	ENSP00000357511:p.Arg27*						p.R27*	NM_001010979.1	NP_001010979.1	Q5VU69	CA189_HUMAN			3	104	-	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		27					A1L4E3	Nonsense_Mutation	SNP	ENST00000368525.3	37	c.79C>T	CCDS30876.1	.	.	.	.	.	.	.	.	.	.	G	15.46	2.839841	0.51057	0.0	1.16E-4	ENSG00000163263	ENST00000368525	.	.	.	4.82	3.83	0.44106	.	0.650011	0.15261	N	0.271774	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.3576	0.38175	0.0:0.0:0.771:0.229	.	.	.	.	X	27	.	ENSP00000357511:R27X	R	-	1	2	C1orf189	152439684	0.892000	0.30473	0.951000	0.38953	0.685000	0.39939	1.149000	0.31626	2.498000	0.84270	0.561000	0.74099	CGA		0.483	C1orf189-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087672.1	NM_001010979		4	213	0	0	0	1	0	4	213					A	154173060	G	A	154173060	4	1	98	1	0	0	0	0	0	1	0	0	2022	1095	38	1	234	1	C1orf189	1	154173060	Nonsense_Mutation	SNP	G	TCGA-EJ-7786-01A-11D-2114-08	38950054	154173060	95077561	7	5486											
HMCN1	83872	broad.mit.edu	37	chr1	185953341	185953341	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cactgtgcgcagtgatgggaGcctccatattgaaagagttc	10	10	12	9	1	0	3	0	2	0	1	2	4	1	4	2	1	2	2	2	1	2	3			TCGA-EJ-7786-01A-11D-2114-08	TCGA-EJ-7786-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090a3fe0-0591-40bd-80fc-485baf11cc56	8d1ae986-87cd-496a-956f-5dfe60cea2e7	g.chr1:185953341G>A	ENST00000271588.4	+	19	3060	c.2831G>A	c.(2830-2832)aGc>aAc	p.S944N	HMCN1_ENST00000485744.1_3'UTR|HMCN1_ENST00000367492.2_Missense_Mutation_p.S944N	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	944	Ig-like C2-type 6.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						AGTGATGGGAGCCTCCATATT	0.388																																						ENST00000271588.4																			0				NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						c.(2830-2832)aGc>aAc		hemicentin 1							175	171	172					1																	185953341		2203	4300	6503	SO:0001583	missense	83872				response to stimulus|visual perception	basement membrane	calcium ion binding	g.chr1:185953341G>A	AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"Fibulins", "Immunoglobulin superfamily / I-set domain containing"	19194	protein-coding gene	gene with protein product	"fibulin 6"	608548	"age-related macular degeneration 1 (senile macular degeneration)"	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.2831G>A	1.37:g.185953341G>A	ENSP00000271588:p.Ser944Asn					HMCN1_ENST00000485744.1_3'UTR|HMCN1_ENST00000367492.2_Missense_Mutation_p.S944N	p.S944N	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN			19	3060	+			944			Ig-like C2-type 6.		A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Missense_Mutation	SNP	ENST00000271588.4	37	c.2831G>A	CCDS30956.1	.	.	.	.	.	.	.	.	.	.	G	29.4	4.999569	0.93227	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	T;T	0.68903	-0.36;-0.36	5.81	5.81	0.92471	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.79161	0.4399	L	0.52126	1.63	0.80722	D	1	D;D	0.89917	1.0;0.996	D;D	0.91635	0.999;0.995	T	0.75741	-0.3211	10	0.38643	T	0.18	.	20.0621	0.97678	0.0:0.0:1.0:0.0	.	328;944	Q96RW7-3;Q96RW7	.;HMCN1_HUMAN	N	944	ENSP00000271588:S944N;ENSP00000356462:S944N	ENSP00000271588:S944N	S	+	2	0	HMCN1	184219964	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.703000	0.91344	2.750000	0.94351	0.655000	0.94253	AGC		0.388	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935		3	58	0	0	0	1	0	3	58					A	185953341	G	A	185953341	3	1	98	1	0	0	0	0	1	0	0	0	7220	971	34	3	2905	3	HMCN1	1	185953341	Missense_Mutation	SNP	G	TCGA-EJ-7786-01A-11D-2114-08	31780281	185953341	63297280	8	5487											
AVPR1B	553	broad.mit.edu	37	chr1	206224447	206224447	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcaaaccttgctcatggatTctgggcctctgtgggatgcc	7	11	12	11	0	3	0	1	0	2	0	3	2	3	2	3	3	4	2	3	3	1	2			TCGA-EJ-7786-01A-11D-2114-08	TCGA-EJ-7786-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090a3fe0-0591-40bd-80fc-485baf11cc56	8d1ae986-87cd-496a-956f-5dfe60cea2e7	g.chr1:206224447T>C	ENST00000367126.4	+	1	472	c.7T>C	c.(7-9)Tct>Cct	p.S3P	RP11-38J22.3_ENST00000425896.1_RNA	NM_000707.3	NP_000698.1	P47901	V1BR_HUMAN	arginine vasopressin receptor 1B	3					activation of phospholipase C activity (GO:0007202)|G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of systemic arterial blood pressure by vasopressin (GO:0001992)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	protein kinase C binding (GO:0005080)|vasopressin receptor activity (GO:0005000)			breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(3)|prostate(1)|skin(2)	20			BRCA - Breast invasive adenocarcinoma(75;0.0312)		Desmopressin(DB00035)|Terlipressin(DB02638)|Vasopressin(DB00067)	GCTCATGGATTCTGGGCCTCT	0.607																																						ENST00000367126.4																			0				breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(3)|prostate(1)|skin(2)	20						c.(7-9)Tct>Cct		arginine vasopressin receptor 1B	Desmopressin(DB00035)|Terlipressin(DB02638)|Vasopressin(DB00067)						154	181	172					1																	206224447		2198	4296	6494	SO:0001583	missense	553				activation of phospholipase C activity|elevation of cytosolic calcium ion concentration	endosome|integral to plasma membrane	protein kinase C binding|vasopressin receptor activity	g.chr1:206224447T>C	D31833	CCDS73015.1	1q32	2014-05-06			ENSG00000198049	ENSG00000198049		"GPCR / Class A : Vasopressin and oxytocin receptors"	896	protein-coding gene	gene with protein product		600264		AVPR3		7929452, 8586456	Standard	NM_000707		Approved		uc001hds.2	P47901	OTTHUMG00000184377	ENST00000367126.4:c.7T>C	1.37:g.206224447T>C	ENSP00000356094:p.Ser3Pro						p.S3P	NM_000707.3	NP_000698.1	P47901	V1BR_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.0312)		1	472	+			3					B0M0J6|Q5TZ00	Missense_Mutation	SNP	ENST00000367126.4	37	c.7T>C	CCDS30994.1	.	.	.	.	.	.	.	.	.	.	T	4.309	0.056549	0.08291	.	.	ENSG00000198049	ENST00000367126	T	0.64991	-0.13	5.03	-4.04	0.04010	.	1.082370	0.07156	N	0.849994	T	0.47135	0.1429	L	0.47716	1.5	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.36625	-0.9740	10	0.40728	T	0.16	-2.3557	3.0078	0.06034	0.1418:0.4237:0.1321:0.3024	.	3	P47901	V1BR_HUMAN	P	3	ENSP00000356094:S3P	ENSP00000356094:S3P	S	+	1	0	AVPR1B	204391070	0.002000	0.14202	0.073000	0.20177	0.078000	0.17371	-0.298000	0.08265	-0.457000	0.07033	0.482000	0.46254	TCT		0.607	AVPR1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087996.1	NM_000707		20	445	0	0	0	1	0	20	445					C	206224447	T	C	206224447	3	2	98	1	0	0	0	0	1	0	0	0	1232	1783	62	4	9	4	AVPR1B	1	206224447	Missense_Mutation	SNP	T	TCGA-EJ-7786-01A-11D-2114-08	20271106	206224447	43026174	9	5488											
ATP6V1C2	245973	broad.mit.edu	37	chr2	10914947	10914947	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacaaggaagggggccttttCactgtgactctgtttcgaaa	10	11	12	8	1	2	1	1	1	1	0	3	4	2	2	1	3	0	1	1	3	3	3			TCGA-EJ-7786-01A-11D-2114-08	TCGA-EJ-7786-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090a3fe0-0591-40bd-80fc-485baf11cc56	8d1ae986-87cd-496a-956f-5dfe60cea2e7	g.chr2:10914947C>A	ENST00000272238.4	+	9	781	c.672C>A	c.(670-672)ttC>ttA	p.F224L	ATP6V1C2_ENST00000381661.3_Missense_Mutation_p.F224L	NM_001039362.1	NP_001034451.1	Q8NEY4	VATC2_HUMAN	ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C2	224					ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|positive regulation of Wnt signaling pathway (GO:0030177)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|proton-transporting V-type ATPase, V1 domain (GO:0033180)	hydrogen-exporting ATPase activity, phosphorylative mechanism (GO:0008553)|protein dimerization activity (GO:0046983)			endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.15)|OV - Ovarian serous cystadenocarcinoma(76;0.152)		GGGGCCTTTTCACTGTGACTC	0.517																																					NSCLC(188;1042 2136 10807 16813 47705)	ENST00000381661.3																			0				endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19						c.(670-672)ttC>ttA		ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C2							124	132	130					2																	10914947		2203	4300	6503	SO:0001583	missense	245973				ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|proton-transporting V-type ATPase, V1 domain		g.chr2:10914947C>A	AY039759	CCDS1674.1, CCDS42653.1	2p25.1	2010-04-21	2006-01-13		ENSG00000143882	ENSG00000143882		"ATPases / V-type"	18264	protein-coding gene	gene with protein product			"ATPase, H+ transporting, lysosomal 42kD, V1 subunit C isoform 2", "ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C isoform 2"			12384298	Standard	XR_426949		Approved	VMA5, ATP6C2	uc002ras.3	Q8NEY4	OTTHUMG00000090459	ENST00000272238.4:c.672C>A	2.37:g.10914947C>A	ENSP00000272238:p.Phe224Leu					ATP6V1C2_ENST00000272238.4_Missense_Mutation_p.F224L	p.F224L	NM_144583.3	NP_653184.2	Q8NEY4	VATC2_HUMAN		Epithelial(75;0.15)|OV - Ovarian serous cystadenocarcinoma(76;0.152)	9	781	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)		224					Q96EL8	Missense_Mutation	SNP	ENST00000272238.4	37	c.672C>A	CCDS42653.1	.	.	.	.	.	.	.	.	.	.	C	16.46	3.129751	0.56721	.	.	ENSG00000143882	ENST00000272238;ENST00000381661	T;T	0.50813	0.73;0.73	5.69	4.63	0.57726	.	0.000000	0.85682	D	0.000000	T	0.70456	0.3226	M	0.88512	2.96	0.58432	D	0.999999	D;D	0.59767	0.966;0.986	P;D	0.62955	0.852;0.909	T	0.76282	-0.3016	10	0.66056	D	0.02	-10.4791	14.5016	0.67724	0.0:0.8764:0.0:0.1236	.	224;224	Q8NEY4-2;Q8NEY4	.;VATC2_HUMAN	L	224	ENSP00000272238:F224L;ENSP00000371077:F224L	ENSP00000272238:F224L	F	+	3	2	ATP6V1C2	10832398	1.000000	0.71417	1.000000	0.80357	0.029000	0.11900	2.669000	0.46825	2.688000	0.91661	0.561000	0.74099	TTC		0.517	ATP6V1C2-002	KNOWN	not_organism_supported|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000323555.1	NM_144583		4	194	1	0	0.014758	1	0.0158932	4	194					A	10914947	C	A	10914947	3	1	98	1	0	0	0	0	1	0	0	0	1181	825	29	5	702	5	ATP6V1C2	2	10914947	Missense_Mutation	SNP	C	TCGA-EJ-7786-01A-11D-2114-08		10914947	232284426	10	5489											
IWS1	55677	broad.mit.edu	37	chr2	128262415	128262415	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtgaaacttttttctgtccAtatggctgtctgaatggaag	9	16	10	6	0	2	2	0	2	2	0	3	3	3	3	1	2	1	1	1	2	4	4			TCGA-EJ-7786-01A-11D-2114-08	TCGA-EJ-7786-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090a3fe0-0591-40bd-80fc-485baf11cc56	8d1ae986-87cd-496a-956f-5dfe60cea2e7	g.chr2:128262415A>G	ENST00000295321.4	-	3	1323	c.1064T>C	c.(1063-1065)aTg>aCg	p.M355T	IWS1_ENST00000455721.2_Missense_Mutation_p.M362T|AC010976.2_ENST00000599001.1_RNA|IWS1_ENST00000486662.1_5'Flank	NM_017969.2	NP_060439.2	Q96ST2	IWS1_HUMAN	IWS1 homolog (S. cerevisiae)	355	Glu-rich.				mRNA processing (GO:0006397)|mRNA transport (GO:0051028)|regulation of histone H3-K36 trimethylation (GO:2001253)|regulation of histone H4 acetylation (GO:0090239)|regulation of mRNA export from nucleus (GO:0010793)|regulation of mRNA processing (GO:0050684)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)			cervix(1)|endometrium(2)|kidney(6)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	28	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0735)		TTTTCTGTCCATATGGCTGTC	0.423																																						ENST00000295321.4																			0				cervix(1)|endometrium(2)|kidney(6)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	28						c.(1063-1065)aTg>aCg		IWS1 homolog (S. cerevisiae)							287	269	275					2																	128262415		2203	4300	6503	SO:0001583	missense	55677				transcription, DNA-dependent	nucleus	DNA binding	g.chr2:128262415A>G	AK000868	CCDS2146.1	2q14.3	2006-03-17			ENSG00000163166	ENSG00000163166			25467	protein-coding gene	gene with protein product							Standard	NM_017969		Approved	DKFZp761G0123, FLJ10006, FLJ14655, FLJ32319	uc002ton.2	Q96ST2	OTTHUMG00000131527	ENST00000295321.4:c.1064T>C	2.37:g.128262415A>G	ENSP00000295321:p.Met355Thr					AC010976.2_ENST00000599001.1_RNA|IWS1_ENST00000455721.2_Missense_Mutation_p.M362T	p.M355T	NM_017969.2	NP_060439.2	Q96ST2	IWS1_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0735)	3	1323	-	Colorectal(110;0.1)		355			Glu-rich.		Q2TB65|Q6P157|Q8N3E8|Q96MI7|Q9NV97|Q9NWH8	Missense_Mutation	SNP	ENST00000295321.4	37	c.1064T>C	CCDS2146.1	.	.	.	.	.	.	.	.	.	.	A	0.004	-2.303407	0.00240	.	.	ENSG00000163166	ENST00000295321;ENST00000433551;ENST00000455721	T;T	0.28069	1.64;1.63	5.93	-0.406	0.12389	.	1.076080	0.07076	N	0.836125	T	0.13586	0.0329	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.32613	-0.9900	10	0.13853	T	0.58	0.172	5.9306	0.19136	0.418:0.0:0.4365:0.1456	.	355	Q96ST2	IWS1_HUMAN	T	355;308;362	ENSP00000295321:M355T;ENSP00000399245:M362T	ENSP00000295321:M355T	M	-	2	0	IWS1	127978885	0.000000	0.05858	0.000000	0.03702	0.015000	0.08874	-0.123000	0.10611	-0.390000	0.07774	-1.341000	0.01249	ATG		0.423	IWS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254384.2	NM_017969		24	142	0	0	0	1	0	24	142					G	128262415	A	G	128262415	3	3	98	1	0	0	0	0	1	0	0	0	7931	217	8	4	1443	4	IWS1	2	128262415	Missense_Mutation	SNP	A	TCGA-EJ-7786-01A-11D-2114-08	117347468	128262415	114936958	11	5490											
KCNH7	90134	broad.mit.edu	37	chr2	163279882	163279882	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccattggtgtaagtccatgcGtgctggaaatattcttcaag	10	13	10	8	1	2	0	1	0	1	0	3	1	3	1	2	2	2	2	2	2	4	5			TCGA-EJ-7786-01A-11D-2114-08	TCGA-EJ-7786-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090a3fe0-0591-40bd-80fc-485baf11cc56	8d1ae986-87cd-496a-956f-5dfe60cea2e7	g.chr2:163279882G>A	ENST00000332142.5	-	9	2217	c.2118C>T	c.(2116-2118)caC>caT	p.H706H	KCNH7_ENST00000328032.4_Silent_p.H699H	NM_033272.3	NP_150375.2	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 7	706					circadian rhythm (GO:0007623)|potassium ion transmembrane transport (GO:0071805)|protein heterooligomerization (GO:0051291)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	inward rectifier potassium channel activity (GO:0005242)|signal transducer activity (GO:0004871)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Doxazosin(DB00590)|Ibutilide(DB00308)|Miconazole(DB01110)|Prazosin(DB00457)|Terazosin(DB01162)	AAGTCCATGCGTGCTGGAAAT	0.443																																					GBM(196;1492 2208 17507 24132 45496)	ENST00000332142.5																			0				NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108						c.(2116-2118)caC>caT		potassium voltage-gated channel, subfamily H (eag-related), member 7	Ibutilide(DB00308)						249	231	237					2																	163279882		2203	4300	6503	SO:0001819	synonymous_variant	90134				regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity	g.chr2:163279882G>A	AF032897	CCDS2219.1, CCDS2220.1	2q24.3	2012-07-05			ENSG00000184611	ENSG00000184611		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	18863	protein-coding gene	gene with protein product		608169				16382104	Standard	NM_173162		Approved	Kv11.3, HERG3, erg3	uc002uch.2	Q9NS40	OTTHUMG00000132069	ENST00000332142.5:c.2118C>T	2.37:g.163279882G>A						KCNH7_ENST00000328032.4_Silent_p.H699H	p.H706H	NM_033272.3	NP_150375.2	Q9NS40	KCNH7_HUMAN			9	2217	-			706					Q53QU4|Q53TB7|Q53TP9|Q8IV15	Silent	SNP	ENST00000332142.5	37	c.2118C>T	CCDS2219.1																																																																																				0.443	KCNH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255093.1	NM_033272		7	244	0	0	0	1	0	7	244					A	163279882	G	A	163279882	2	1	98	1	0	0	0	0	0	0	0	1	8037	1136	40	1		1	KCNH7	2	163279882	Silent	SNP	G	TCGA-EJ-7786-01A-11D-2114-08	35017467	163279882	79919491	12	5491											
BSN	8927	broad.mit.edu	37	chr3	49697949	49697949	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgccacccaacagcctggtcCgcaaggtgaagcggacactg	10	5	12	14	2	0	1	0	1	0	0	1	2	1	2	4	3	4	1	4	3	3	0			TCGA-EJ-7786-01A-11D-2114-08	TCGA-EJ-7786-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090a3fe0-0591-40bd-80fc-485baf11cc56	8d1ae986-87cd-496a-956f-5dfe60cea2e7	g.chr3:49697949C>T	ENST00000296452.4	+	6	8785	c.8671C>T	c.(8671-8673)Cgc>Tgc	p.R2891C		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	2891					synaptic transmission (GO:0007268)	axon (GO:0030424)|cell junction (GO:0030054)|dendrite (GO:0030425)|neuron projection terminus (GO:0044306)|nucleus (GO:0005634)|presynaptic cytoskeletal matrix assembled at active zones (GO:0048788)	metal ion binding (GO:0046872)			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		CAGCCTGGTCCGCAAGGTGAA	0.657																																						ENST00000296452.4																			0				breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106						c.(8671-8673)Cgc>Tgc		bassoon presynaptic cytomatrix protein							79	83	82					3																	49697949		2203	4300	6503	SO:0001583	missense	8927				synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding	g.chr3:49697949C>T	AF052224	CCDS2800.1	3p21	2013-01-07	2013-01-07		ENSG00000164061	ENSG00000164061			1117	protein-coding gene	gene with protein product	"zinc finger protein 231", "neuronal double zinc finger protein"	604020	"bassoon (presynaptic cytomatrix protein)"	ZNF231		9806829, 10329005	Standard	NM_003458		Approved		uc003cxe.4	Q9UPA5	OTTHUMG00000133750	ENST00000296452.4:c.8671C>T	3.37:g.49697949C>T	ENSP00000296452:p.Arg2891Cys						p.R2891C	NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN		BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)	6	8785	+			2891					O43161|Q7LGH3	Missense_Mutation	SNP	ENST00000296452.4	37	c.8671C>T	CCDS2800.1	.	.	.	.	.	.	.	.	.	.	C	11.90	1.776719	0.31411	.	.	ENSG00000164061	ENST00000296452	T	0.26223	1.75	5.06	5.06	0.68205	.	0.000000	0.85682	D	0.000000	T	0.45915	0.1366	L	0.55481	1.735	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	T	0.42548	-0.9445	10	0.87932	D	0	-12.6757	14.2028	0.65716	0.1501:0.8499:0.0:0.0	.	2891	Q9UPA5	BSN_HUMAN	C	2891	ENSP00000296452:R2891C	ENSP00000296452:R2891C	R	+	1	0	BSN	49672953	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.120000	0.41968	2.334000	0.79466	0.655000	0.94253	CGC		0.657	BSN-001	KNOWN	NMD_exception|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000258164.1	NM_003458		6	178	0	0	0	1	0	6	178					T	49697949	C	T	49697949	3	4	98	1	0	0	0	0	1	0	0	0	1530	652	23	2	8693	2	BSN	3	49697949	Missense_Mutation	SNP	C	TCGA-EJ-7786-01A-11D-2114-08		49697949	148324481	13	5492											
P2RY14	9934	broad.mit.edu	37	chr3	150932018	150932018	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cctgcaatgaagaccatacaGtacagcacaggaatgatctg	15	7	9	10	0	1	3	0	2	1	1	1	4	1	4	2	1	4	3	2	1	5	2			TCGA-EJ-7786-01A-11D-2114-08	TCGA-EJ-7786-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090a3fe0-0591-40bd-80fc-485baf11cc56	8d1ae986-87cd-496a-956f-5dfe60cea2e7	g.chr3:150932018G>A	ENST00000309170.3	-	3	399	c.87C>T	c.(85-87)taC>taT	p.Y29Y	MED12L_ENST00000474524.1_Intron|MED12L_ENST00000273432.4_Intron|P2RY14_ENST00000424796.2_Silent_p.Y29Y	NM_001081455.1|NM_014879.3	NP_001074924.1|NP_055694.3	Q15391	P2Y14_HUMAN	purinergic receptor P2Y, G-protein coupled, 14	29					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled purinergic nucleotide receptor activity (GO:0045028)|UDP-activated nucleotide receptor activity (GO:0045029)			breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(1)	20			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			AGACCATACAGTACAGCACAG	0.438																																						ENST00000309170.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(1)	20						c.(85-87)taC>taT		purinergic receptor P2Y, G-protein coupled, 14							176	167	170					3																	150932018		2203	4300	6503	SO:0001819	synonymous_variant	9934					integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled|UDP-activated nucleotide receptor activity	g.chr3:150932018G>A	D13626	CCDS3156.1	3q21-q25	2012-08-08	2004-07-12	2004-07-14	ENSG00000174944	ENSG00000174944		"Purinergic receptors", "GPCR / Class A : Purinergic receptors, P2Y"	16442	protein-coding gene	gene with protein product		610116	"G protein-coupled receptor 105"	GPR105			Standard	NM_014879		Approved	KIAA0001	uc003eys.1	Q15391	OTTHUMG00000159859	ENST00000309170.3:c.87C>T	3.37:g.150932018G>A						MED12L_ENST00000474524.1_Intron|MED12L_ENST00000273432.4_Intron|P2RY14_ENST00000424796.2_Silent_p.Y29Y	p.Y29Y	NM_001081455.1|NM_014879.3	NP_001074924.1|NP_055694.3	Q15391	P2Y14_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)		3	399	-			29					Q8IYT7	Silent	SNP	ENST00000309170.3	37	c.87C>T	CCDS3156.1																																																																																				0.438	P2RY14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357789.1	NM_014879		4	139	0	0	0	1	0	4	139					A	150932018	G	A	150932018	2	1	98	1	0	0	0	0	0	0	0	1	11351	1024	36	3		3	P2RY14	3	150932018	Silent	SNP	G	TCGA-EJ-7786-01A-11D-2114-08	101234069	150932018	47090412	14	5493											
PLK4	10733	broad.mit.edu	37	chr4	128818021	128818021	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttggttgtgcaggcaggagtGtcttctatcagttatacctc	7	15	11	8	0	3	0	1	0	2	0	4	1	3	1	1	3	2	4	1	3	3	6			TCGA-EJ-7786-01A-11D-2114-08	TCGA-EJ-7786-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090a3fe0-0591-40bd-80fc-485baf11cc56	8d1ae986-87cd-496a-956f-5dfe60cea2e7	g.chr4:128818021G>T	ENST00000270861.5	+	15	3043	c.2769G>T	c.(2767-2769)gtG>gtT	p.V923V	PLK4_ENST00000507249.1_Silent_p.V862V|PLK4_ENST00000515069.1_Silent_p.V845V|PLK4_ENST00000514379.1_Silent_p.V882V|PLK4_ENST00000513090.1_Silent_p.V891V	NM_014264.4	NP_055079.3	O00444	PLK4_HUMAN	polo-like kinase 4	923	POLO box. {ECO:0000255|PROSITE- ProRule:PRU00154}.				centriole replication (GO:0007099)|de novo centriole assembly (GO:0098535)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|positive regulation of centriole replication (GO:0046601)|protein phosphorylation (GO:0006468)|trophoblast giant cell differentiation (GO:0060707)	centriole (GO:0005814)|centrosome (GO:0005813)|cytosol (GO:0005829)|deuterosome (GO:0098536)|nucleolus (GO:0005730)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	31						AGGCAGGAGTGTCTTCTATCA	0.403																																					Colon(135;508 1718 19061 31832 42879)	ENST00000270861.5																			0				central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	31						c.(2767-2769)gtG>gtT		polo-like kinase 4							127	113	118					4																	128818021		2203	4300	6503	SO:0001819	synonymous_variant	0				G2/M transition of mitotic cell cycle|positive regulation of centriole replication|trophoblast giant cell differentiation	centriole|cleavage furrow|cytosol|nucleolus	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr4:128818021G>T	Y13115	CCDS3735.1, CCDS54803.1, CCDS54804.1	4q27-q28	2013-01-18	2010-06-24	2004-01-28	ENSG00000142731	ENSG00000142731			11397	protein-coding gene	gene with protein product		605031	"serine/threonine kinase 18", "polo-like kinase 4 (Drosophila)"	STK18			Standard	NM_014264		Approved	Sak	uc003ifo.3	O00444	OTTHUMG00000133301	ENST00000270861.5:c.2769G>T	4.37:g.128818021G>T						PLK4_ENST00000507249.1_Silent_p.V862V|PLK4_ENST00000514379.1_Silent_p.V882V|PLK4_ENST00000513090.1_Silent_p.V891V|PLK4_ENST00000515069.1_Silent_p.V845V	p.V923V	NM_014264.4	NP_055079.3	O00444	PLK4_HUMAN			15	3043	+			923			POLO box.		B2RAL0|B7Z837|B7Z8G7|Q8IYF0|Q96Q95|Q9UD84|Q9UDE2	Silent	SNP	ENST00000270861.5	37	c.2769G>T	CCDS3735.1																																																																																				0.403	PLK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257095.3			5	94	1	0	0.014758	1	0.0158932	5	94					T	128818021	G	T	128818021	2	4	98	1	0	0	0	0	0	0	0	1	12098	1364	48	5		5	PLK4	4	128818021	Silent	SNP	G	TCGA-EJ-7786-01A-11D-2114-08		128818021	62336255	15	5494											
TGFBI	7045	broad.mit.edu	37	chr5	135392372	135392372	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	agcatgctggtagctgccatCcagtctgcaggactgacgga	9	8	13	11	1	1	1	0	1	1	0	2	3	2	3	2	3	5	5	2	3	1	1			TCGA-EJ-7786-01A-11D-2114-08	TCGA-EJ-7786-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090a3fe0-0591-40bd-80fc-485baf11cc56	8d1ae986-87cd-496a-956f-5dfe60cea2e7	g.chr5:135392372C>A	ENST00000442011.2	+	12	1727	c.1566C>A	c.(1564-1566)atC>atA	p.I522I	TGFBI_ENST00000508076.1_5'Flank|TGFBI_ENST00000305126.8_Silent_p.I522I	NM_000358.2	NP_000349.1	Q15582	BGH3_HUMAN	transforming growth factor, beta-induced, 68kDa	522	FAS1 4. {ECO:0000255|PROSITE- ProRule:PRU00082}.				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|chondrocyte differentiation (GO:0002062)|extracellular matrix organization (GO:0030198)|negative regulation of cell adhesion (GO:0007162)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	collagen binding (GO:0005518)|extracellular matrix binding (GO:0050840)|integrin binding (GO:0005178)			breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			TAGCTGCCATCCAGTCTGCAG	0.502																																						ENST00000442011.2																			0				breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32						c.(1564-1566)atC>atA		transforming growth factor, beta-induced, 68kDa							98	101	100					5																	135392372		1982	4177	6159	SO:0001819	synonymous_variant	7045				angiogenesis|cell adhesion|cell proliferation|negative regulation of cell adhesion|response to stimulus|visual perception	extracellular space|proteinaceous extracellular matrix	integrin binding	g.chr5:135392372C>A	M77349	CCDS47266.1	5q31	2008-02-05	2002-08-29		ENSG00000120708	ENSG00000120708			11771	protein-coding gene	gene with protein product		601692	"transforming growth factor, beta-induced, 68kD"	CSD3, LCD1, CSD1, CSD2		9463327	Standard	NM_000358		Approved	BIGH3, CDB1, CDGG1	uc003lbf.4	Q15582	OTTHUMG00000163213	ENST00000442011.2:c.1566C>A	5.37:g.135392372C>A						TGFBI_ENST00000305126.8_Silent_p.I522I	p.I522I	NM_000358.2	NP_000349.1	Q15582	BGH3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)		12	1727	+			522			FAS1 4.		D3DQB1|O14471|O14472|O14476|O43216|O43217|O43218|O43219|Q53XM1	Silent	SNP	ENST00000442011.2	37	c.1566C>A	CCDS47266.1	.	.	.	.	.	.	.	.	.	.	C	9.434	1.086371	0.20390	.	.	ENSG00000120708	ENST00000514554	.	.	.	5.81	3.8	0.43715	.	.	.	.	.	T	0.62466	0.2430	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.61103	-0.7130	4	.	.	.	4.5569	11.5897	0.50939	0.0:0.8112:0.0:0.1888	.	.	.	.	T	240	.	.	P	+	1	0	TGFBI	135420271	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.690000	0.37711	1.468000	0.48064	0.650000	0.86243	CCA		0.502	TGFBI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372108.1			23	81	1	0	6.38683e-12	1	7.4513e-12	23	81					A	135392372	C	A	135392372	2	1	98	1	0	0	0	0	0	0	0	1	15817	845	30	5		5	TGFBI	5	135392372	Silent	SNP	C	TCGA-EJ-7786-01A-11D-2114-08		135392372	45522888	16	5495											
SH3TC2	79628	broad.mit.edu	37	chr5	148418008	148418008	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggtagaaattcagttcatccTtttctcctggctcataaccc	9	14	6	12	0	4	1	3	0	1	1	6	1	5	1	3	2	1	3	3	2	3	6			TCGA-EJ-7786-01A-11D-2114-08	TCGA-EJ-7786-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090a3fe0-0591-40bd-80fc-485baf11cc56	8d1ae986-87cd-496a-956f-5dfe60cea2e7	g.chr5:148418008T>C	ENST00000515425.1	-	8	952	c.851A>G	c.(850-852)aAg>aGg	p.K284R	SH3TC2_ENST00000538184.1_5'UTR|SH3TC2_ENST00000394358.2_Missense_Mutation_p.K169R|SH3TC2_ENST00000512049.1_Missense_Mutation_p.K277R|SH3TC2_ENST00000513340.1_5'Flank	NM_024577.3	NP_078853.2	Q8TF17	S3TC2_HUMAN	SH3 domain and tetratricopeptide repeats 2	284	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				cell death (GO:0008219)|peripheral nervous system myelin maintenance (GO:0032287)|regulation of ERBB signaling pathway (GO:1901184)|regulation of intracellular protein transport (GO:0033157)	cytoplasmic vesicle (GO:0031410)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	39			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAGTTCATCCTTTTCTCCTGG	0.483																																						ENST00000515425.1																			0				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	39						c.(850-852)aAg>aGg		SH3 domain and tetratricopeptide repeats 2							186	188	187					5																	148418008		2203	4300	6503	SO:0001583	missense	79628						binding	g.chr5:148418008T>C	AK127248	CCDS4293.1	5q32	2014-09-17			ENSG00000169247	ENSG00000169247		"Tetratricopeptide (TTC) repeat domain containing"	29427	protein-coding gene	gene with protein product		608206				14574644	Standard	NM_024577		Approved	KIAA1985, CMT4C	uc003lpu.3	Q8TF17	OTTHUMG00000129930	ENST00000515425.1:c.851A>G	5.37:g.148418008T>C	ENSP00000423660:p.Lys284Arg					SH3TC2_ENST00000394358.2_Missense_Mutation_p.K169R|SH3TC2_ENST00000538184.1_5'UTR|SH3TC2_ENST00000512049.1_Missense_Mutation_p.K277R	p.K284R	NM_024577.3	NP_078853.2	Q8TF17	S3TC2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		8	952	-			284			SH3.		B3KWE5|Q14CC0|Q14CF5|Q9H8I5	Missense_Mutation	SNP	ENST00000515425.1	37	c.851A>G	CCDS4293.1	.	.	.	.	.	.	.	.	.	.	T	2.611	-0.290824	0.05568	.	.	ENSG00000169247	ENST00000515425;ENST00000512049;ENST00000394358	T;T;T	0.30182	1.54;1.54;1.54	4.88	0.744	0.18353	Src homology-3 domain (4);	0.526239	0.19603	N	0.110323	T	0.13329	0.0323	L	0.27053	0.805	0.23492	N	0.997566	B;B;B	0.11235	0.003;0.004;0.004	B;B;B	0.18871	0.002;0.01;0.023	T	0.20107	-1.0285	10	0.07990	T	0.79	.	0.433	0.00474	0.1789:0.2438:0.1848:0.3925	.	169;277;284	C9JLC3;Q14CC0;Q8TF17	.;.;S3TC2_HUMAN	R	284;277;169	ENSP00000423660:K284R;ENSP00000421860:K277R;ENSP00000377886:K169R	ENSP00000377886:K169R	K	-	2	0	SH3TC2	148398201	1.000000	0.71417	0.880000	0.34516	0.545000	0.35147	0.860000	0.27871	0.290000	0.22444	0.459000	0.35465	AAG		0.483	SH3TC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252186.2	NM_024577		3	198	0	0	0	1	0	3	198					C	148418008	T	C	148418008	3	2	98	1	0	0	0	0	1	0	0	0	14262	1609	56	4	3055	4	SH3TC2	5	148418008	Missense_Mutation	SNP	T	TCGA-EJ-7786-01A-11D-2114-08	13025636	148418008	32497252	17	5496											
PPT2	9374	broad.mit.edu	37	chr6	32130687	32130687	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cacagcctggcactccaaccGtaccctttatgagacctgca	10	8	7	16	1	0	1	0	1	0	1	1	2	1	1	5	1	4	3	5	1	3	3			TCGA-EJ-7786-01A-11D-2114-08	TCGA-EJ-7786-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090a3fe0-0591-40bd-80fc-485baf11cc56	8d1ae986-87cd-496a-956f-5dfe60cea2e7	g.chr6:32130687G>A	ENST00000324816.6	+	9	1437	c.869G>A	c.(868-870)cGt>cAt	p.R290H	PPT2_ENST00000395523.1_Missense_Mutation_p.R290H|PPT2_ENST00000375143.2_Missense_Mutation_p.R290H|PPT2-EGFL8_ENST00000422437.1_Intron|EGFL8_ENST00000395512.1_5'Flank|PPT2_ENST00000445576.2_Intron|PPT2-EGFL8_ENST00000453656.2_Intron|PPT2_ENST00000437001.2_Intron|PPT2_ENST00000361568.2_Missense_Mutation_p.R296H|PPT2_ENST00000375137.2_Missense_Mutation_p.R290H|EGFL8_ENST00000333845.6_5'Flank			Q9UMR5	PPT2_HUMAN	palmitoyl-protein thioesterase 2	290					cellular protein modification process (GO:0006464)|macromolecule depalmitoylation (GO:0098734)	extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	palmitoyl hydrolase activity (GO:0098599)|palmitoyl-(protein) hydrolase activity (GO:0008474)|thiolester hydrolase activity (GO:0016790)	p.R296H(1)		NS(1)|endometrium(2)|large_intestine(2)|lung(10)|prostate(1)|urinary_tract(1)	17						CACTCCAACCGTACCCTTTAT	0.552																																						ENST00000324816.6																			1	Substitution - Missense(1)	p.R296H(1)	large_intestine(1)	NS(1)|endometrium(2)|large_intestine(2)|lung(10)|prostate(1)|urinary_tract(1)	17						c.(868-870)cGt>cAt		palmitoyl-protein thioesterase 2							139	150	146					6																	32130687		2203	4300	6503	SO:0001583	missense	9374				protein modification process	lysosome	palmitoyl-(protein) hydrolase activity	g.chr6:32130687G>A	AF020543	CCDS4740.1, CCDS4742.1	6p21.3	2012-07-02			ENSG00000221988	ENSG00000221988	3.1.2.22		9326	protein-coding gene	gene with protein product		603298				9341199, 10051407	Standard	NM_138717		Approved		uc003nzw.3	Q9UMR5	OTTHUMG00000031257	ENST00000324816.6:c.869G>A	6.37:g.32130687G>A	ENSP00000320528:p.Arg290His					PPT2_ENST00000445576.2_Intron|PPT2_ENST00000395523.1_Missense_Mutation_p.R290H|PPT2_ENST00000375143.2_Missense_Mutation_p.R290H|PPT2_ENST00000375137.2_Missense_Mutation_p.R290H|PPT2_ENST00000437001.2_Intron|PPT2_ENST00000361568.2_Missense_Mutation_p.R296H|PPT2-EGFL8_ENST00000453656.2_Intron|PPT2-EGFL8_ENST00000422437.1_Intron	p.R290H			Q9UMR5	PPT2_HUMAN			9	1437	+			290					A2ABC9|A2ABD1|A2ARM7|A2BFH7|A2BFH9|A2BFI2|A8K9L4|B0S868|G8JLE1|O14799|Q0P6K0|Q5JP13|Q5JP14|Q5JQF0|Q5SSX4|Q5SSX5|Q5SSX6|Q5STJ4|Q5STJ5|Q5STJ6|Q6FI80|Q99945	Missense_Mutation	SNP	ENST00000324816.6	37	c.869G>A	CCDS4742.1	.	.	.	.	.	.	.	.	.	.	G	14.81	2.646223	0.47258	.	.	ENSG00000221988	ENST00000361568;ENST00000395523;ENST00000324816;ENST00000375137;ENST00000375143	D;D;D;D;D	0.91686	-2.89;-2.88;-2.88;-2.88;-2.88	5.63	2.79	0.32731	.	0.354936	0.30260	N	0.010040	T	0.62998	0.2474	N	0.02539	-0.55	0.80722	D	1	B;B	0.19706	0.038;0.038	B;B	0.06405	0.002;0.002	T	0.56739	-0.7929	10	0.37606	T	0.19	-7.5675	6.5205	0.22272	0.0844:0.0:0.5831:0.3325	.	290;296	Q9UMR5;B0S872	PPT2_HUMAN;.	H	296;290;290;290;290	ENSP00000354608:R296H;ENSP00000378894:R290H;ENSP00000320528:R290H;ENSP00000364279:R290H;ENSP00000364285:R290H	ENSP00000320528:R290H	R	+	2	0	PPT2	32238665	0.791000	0.28800	0.957000	0.39632	0.983000	0.72400	1.338000	0.33873	0.281000	0.22233	0.655000	0.94253	CGT		0.552	PPT2-207	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076552.4	NM_138717		4	240	0	0	0	1	0	4	240					A	32130687	G	A	32130687	3	1	98	1	0	0	0	0	1	0	0	0	12412	1145	40	1	921	1	PPT2	6	32130687	Missense_Mutation	SNP	G	TCGA-EJ-7786-01A-11D-2114-08		32130687	138984380	18	5497											
MCM3	4172	broad.mit.edu	37	chr6	52137119	52137119	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctggcggtgtctgagctcaTgctatcctggctgcgcaggc	4	10	14	13	2	2	1	1	1	1	0	3	1	3	1	2	4	3	4	2	4	1	1			TCGA-EJ-7786-01A-11D-2114-08	TCGA-EJ-7786-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090a3fe0-0591-40bd-80fc-485baf11cc56	8d1ae986-87cd-496a-956f-5dfe60cea2e7	g.chr6:52137119T>G	ENST00000229854.7	-	12	1883	c.1807A>C	c.(1807-1809)Atg>Ctg	p.M603L	MCM3_ENST00000596288.1_Missense_Mutation_p.M648L|MCM3_ENST00000419835.2_Missense_Mutation_p.M557L			P25205	MCM3_HUMAN	minichromosome maintenance complex component 3	603					DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA strand elongation involved in DNA replication (GO:0006271)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)	alpha DNA polymerase:primase complex (GO:0005658)|centrosome (GO:0005813)|intracellular membrane-bounded organelle (GO:0043231)|MCM complex (GO:0042555)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)			endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	20	Lung NSC(77;0.0931)					TCTGAGCTCATGCTATCCTGG	0.567																																						ENST00000596288.1																			0				endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	20						c.(1942-1944)Atg>Ctg		minichromosome maintenance complex component 3							132	112	119					6																	52137119		2203	4300	6503	SO:0001583	missense	4172				cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	alpha DNA polymerase:primase complex|centrosome|MCM complex|perinuclear region of cytoplasm	ATP binding|DNA binding|helicase activity|protein binding	g.chr6:52137119T>G	X62153	CCDS4940.1, CCDS4940.2, CCDS75468.1	6p12	2008-02-05	2007-04-04		ENSG00000112118	ENSG00000112118			6945	protein-coding gene	gene with protein product		602693	"minichromosome maintenance deficient (S. cerevisiae) 3", "MCM3 minichromosome maintenance deficient 3 (S. cerevisiae)"			1549468	Standard	NM_002388		Approved		uc011dwu.2	P25205	OTTHUMG00000014844	ENST00000229854.7:c.1807A>C	6.37:g.52137119T>G	ENSP00000229854:p.Met603Leu					MCM3_ENST00000229854.7_Missense_Mutation_p.M603L|MCM3_ENST00000419835.2_Missense_Mutation_p.M557L	p.M648L	NM_002388.4	NP_002379.3	P25205	MCM3_HUMAN			12	1969	-	Lung NSC(77;0.0931)		603					B4DWW4|Q92660|Q9BTR3|Q9NUE7	Missense_Mutation	SNP	ENST00000229854.7	37	c.1942A>C		.	.	.	.	.	.	.	.	.	.	T	11.75	1.732644	0.30684	.	.	ENSG00000112118	ENST00000229854;ENST00000340349;ENST00000419835;ENST00000421471	T;T;T	0.29655	4.42;2.65;1.56	5.33	4.14	0.48551	.	0.369853	0.22560	N	0.058479	T	0.02688	0.0081	N	0.00972	-1.085	0.41646	D	0.989102	B;B	0.02656	0.0;0.0	B;B	0.11329	0.006;0.004	T	0.41197	-0.9522	10	0.02654	T	1	-27.2638	11.3148	0.49386	0.0:0.0:0.2904:0.7096	.	557;603	B4DUQ9;P25205	.;MCM3_HUMAN	L	603;100;557;98	ENSP00000229854:M603L;ENSP00000388647:M557L;ENSP00000407651:M98L	ENSP00000229854:M603L	M	-	1	0	MCM3	52245078	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	1.155000	0.31700	1.002000	0.39104	0.533000	0.62120	ATG		0.567	MCM3-006	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000470784.1			5	79	0	0	0	1	0	5	79					G	52137119	T	G	52137119	3	3	98	1	0	0	0	0	1	0	0	0	9387	1464	51	5	643	5	MCM3	6	52137119	Missense_Mutation	SNP	T	TCGA-EJ-7786-01A-11D-2114-08	20006432	52137119	118977948	19	5498											
LMBRD1	55788	broad.mit.edu	37	chr6	70447838	70447838	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tccccatttcacttactgtgTaagttatagctgccaacatt	10	15	5	11	0	1	0	1	0	0	0	2	0	2	0	3	0	4	3	3	0	5	6			TCGA-EJ-7786-01A-11D-2114-08	TCGA-EJ-7786-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090a3fe0-0591-40bd-80fc-485baf11cc56	8d1ae986-87cd-496a-956f-5dfe60cea2e7	g.chr6:70447838T>C	ENST00000370577.3	-	7	861	c.632A>G	c.(631-633)tAc>tGc	p.Y211C	LMBRD1_ENST00000370570.1_Missense_Mutation_p.Y138C	NM_018368.3	NP_060838.3	Q9NUN5	LMBD1_HUMAN	LMBR1 domain containing 1	211					cobalamin metabolic process (GO:0009235)|insulin receptor internalization (GO:0038016)|negative regulation of glucose import (GO:0046325)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of protein kinase B signaling (GO:0051898)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	clathrin-coated endocytic vesicle (GO:0045334)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cobalamin binding (GO:0031419)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)	31						ACTTACTGTGTAAGTTATAGC	0.284																																						ENST00000370577.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)	31						c.(631-633)tAc>tGc		LMBR1 domain containing 1							46	44	44					6																	70447838		2200	4296	6496	SO:0001583	missense	55788				interspecies interaction between organisms|transport	integral to membrane|lysosomal membrane	cobalamin binding	g.chr6:70447838T>C	AF113224	CCDS4969.1	6q13	2011-05-12	2005-07-25	2005-07-25	ENSG00000168216	ENSG00000168216			23038	protein-coding gene	gene with protein product		612625	"chromosome 6 open reading frame 209"	C6orf209		19136951	Standard	NM_018368		Approved	FLJ11240, bA810I22.1, cblF	uc003pfa.3	Q9NUN5	OTTHUMG00000014985	ENST00000370577.3:c.632A>G	6.37:g.70447838T>C	ENSP00000359609:p.Tyr211Cys					LMBRD1_ENST00000370570.1_Missense_Mutation_p.Y138C	p.Y211C	NM_018368.3	NP_060838.3	Q9NUN5	LMBD1_HUMAN			7	861	-			211					A8K204|E1P531|Q5VUN6|Q86Y70|Q96FW4|Q9BY56|Q9NZD6	Missense_Mutation	SNP	ENST00000370577.3	37	c.632A>G	CCDS4969.1	.	.	.	.	.	.	.	.	.	.	t	20.7	4.032389	0.75504	.	.	ENSG00000168216	ENST00000370577;ENST00000370570	T;T	0.26518	1.73;1.73	5.95	5.95	0.96441	LMBR1-like membrane protein (1);	0.000000	0.85682	D	0.000000	T	0.46483	0.1395	M	0.85777	2.775	0.80722	D	1	D	0.76494	0.999	D	0.66716	0.946	T	0.52902	-0.8513	10	0.54805	T	0.06	-7.5447	15.4149	0.74960	0.0:0.0:0.0:1.0	.	211	Q9NUN5	LMBD1_HUMAN	C	211;138	ENSP00000359609:Y211C;ENSP00000359602:Y138C	ENSP00000359602:Y138C	Y	-	2	0	LMBRD1	70504559	1.000000	0.71417	1.000000	0.80357	0.933000	0.57130	6.895000	0.75660	2.281000	0.76405	0.528000	0.53228	TAC		0.284	LMBRD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041124.1	NM_018368		3	27	0	0	0	1	0	3	27					C	70447838	T	C	70447838	3	2	98	1	0	0	0	0	1	0	0	0	8842	1638	57	4	1030	4	LMBRD1	6	70447838	Missense_Mutation	SNP	T	TCGA-EJ-7786-01A-11D-2114-08	18310719	70447838	100667229	20	5499											
ARID1B	57492	broad.mit.edu	37	chr6	157528683	157528683	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atgtccatggcgcttttatcGaaccttgcccaaggggacgc	8	10	11	12	3	0	0	0	0	0	0	2	2	1	1	3	3	2	1	3	3	3	3			TCGA-EJ-7786-01A-11D-2114-08	TCGA-EJ-7786-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090a3fe0-0591-40bd-80fc-485baf11cc56	8d1ae986-87cd-496a-956f-5dfe60cea2e7	g.chr6:157528683G>A	ENST00000350026.5	+	19	6370	c.6369G>A	c.(6367-6369)tcG>tcA	p.S2123S	ARID1B_ENST00000275248.4_Silent_p.S2118S|ARID1B_ENST00000367148.1_Silent_p.S2176S|ARID1B_ENST00000346085.5_Silent_p.S2136S	NM_017519.2	NP_059989.2	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	2123					chromatin-mediated maintenance of transcription (GO:0048096)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)			NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		CGCTTTTATCGAACCTTGCCC	0.488																																						ENST00000346085.5																			0				NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81						c.(6406-6408)tcG>tcA		AT rich interactive domain 1B (SWI1-like)							169	172	171					6																	157528683		2203	4296	6499	SO:0001819	synonymous_variant	57492				chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity	g.chr6:157528683G>A	AF521671	CCDS5251.1, CCDS5251.2, CCDS55072.1	6q25.3	2014-09-17			ENSG00000049618	ENSG00000049618		"-"	18040	protein-coding gene	gene with protein product		614556					Standard	NM_017519		Approved	KIAA1235, ELD/OSA1, p250R, BAF250b, DAN15, 6A3-5	uc003qqo.3	Q8NFD5	OTTHUMG00000015890	ENST00000350026.5:c.6369G>A	6.37:g.157528683G>A						ARID1B_ENST00000367148.1_Silent_p.S2176S|ARID1B_ENST00000350026.5_Silent_p.S2123S|ARID1B_ENST00000275248.4_Silent_p.S2118S	p.S2136S	NM_020732.3	NP_065783.3	Q8NFD5	ARI1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)	20	6409	+		Breast(66;0.000162)|Ovarian(120;0.0265)	2123					Q5JRD1|Q5VYC4|Q8IZY8|Q8TEV0|Q8TF02|Q99491|Q9ULI5	Silent	SNP	ENST00000350026.5	37	c.6408G>A	CCDS5251.2																																																																																				0.488	ARID1B-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000372723.1	NM_020732		4	167	0	0	0	1	0	4	167					A	157528683	G	A	157528683	2	1	98	1	0	0	0	0	0	0	0	1	914	1045	37	2		2	ARID1B	6	157528683	Silent	SNP	G	TCGA-EJ-7786-01A-11D-2114-08	87080845	157528683	13586384	21	5500											
SEMA3D	223117	broad.mit.edu	37	chr7	84671533	84671533	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccatcacttccaggaattgaGcaaatcagtctggccttaag	12	10	8	11	0	3	1	2	1	1	0	4	2	4	2	3	2	1	1	3	2	3	3			TCGA-EJ-7786-01A-11D-2114-08	TCGA-EJ-7786-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090a3fe0-0591-40bd-80fc-485baf11cc56	8d1ae986-87cd-496a-956f-5dfe60cea2e7	g.chr7:84671533G>C	ENST00000284136.6	-	8	973	c.930C>G	c.(928-930)tgC>tgG	p.C310W	SEMA3D_ENST00000484038.1_5'Flank	NM_152754.2	NP_689967.2	O95025	SEM3D_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3D	310	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|membrane (GO:0016020)	receptor activity (GO:0004872)			NS(1)|breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(19)|lung(29)|ovary(3)|pancreas(1)|prostate(4)|skin(2)	73						CAGGAATTGAGCAAATCAGTC	0.378																																					Ovarian(63;442 1191 17318 29975 31528)	ENST00000284136.6																			0				NS(1)|breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(19)|lung(29)|ovary(3)|pancreas(1)|prostate(4)|skin(2)	73						c.(928-930)tgC>tgG		sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3D							283	261	268					7																	84671533		2203	4300	6503	SO:0001583	missense	223117				cell differentiation|nervous system development	extracellular region|membrane	receptor activity	g.chr7:84671533G>C	BC029590	CCDS34676.1	7q21.11	2013-01-11			ENSG00000153993	ENSG00000153993		"Semaphorins", "Immunoglobulin superfamily / V-set domain containing"	10726	protein-coding gene	gene with protein product		609907					Standard	NM_152754		Approved	coll-2, Sema-Z2	uc003uic.3	O95025	OTTHUMG00000154569	ENST00000284136.6:c.930C>G	7.37:g.84671533G>C	ENSP00000284136:p.Cys310Trp						p.C310W	NM_152754.2	NP_689967.2	O95025	SEM3D_HUMAN			8	973	-			310			Sema.		A6NK46|Q6UW77|Q8NCQ1	Missense_Mutation	SNP	ENST00000284136.6	37	c.930C>G	CCDS34676.1	.	.	.	.	.	.	.	.	.	.	G	16.82	3.227384	0.58668	.	.	ENSG00000153993	ENST00000284136	D	0.94092	-3.35	5.7	2.93	0.34026	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.083545	0.85682	D	0.000000	D	0.97501	0.9182	H	0.97491	4.015	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96736	0.9543	10	0.87932	D	0	.	9.4083	0.38475	0.299:0.0:0.701:0.0	.	310	O95025	SEM3D_HUMAN	W	310	ENSP00000284136:C310W	ENSP00000284136:C310W	C	-	3	2	SEMA3D	84509469	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	0.949000	0.29109	0.764000	0.33197	0.650000	0.86243	TGC		0.378	SEMA3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336084.2	NM_152754		10	293	0	0	0	1	0	10	293					C	84671533	G	C	84671533	3	2	98	1	0	0	0	0	1	0	0	0	14027	963	34	5	1443	5	SEMA3D	7	84671533	Missense_Mutation	SNP	G	TCGA-EJ-7786-01A-11D-2114-08		84671533	74467130	22	5501											
DLX6	1750	broad.mit.edu	37	chr7	96635389	96635391	+	In_Frame_Del	DEL	CAG	CAG	-																															agcagcagcagcagcagcaaCagcagcagcagcagcagcag																								rs35478952		TCGA-EJ-7786-01A-11D-2114-08	TCGA-EJ-7786-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090a3fe0-0591-40bd-80fc-485baf11cc56	8d1ae986-87cd-496a-956f-5dfe60cea2e7	g.chr7:96635389_96635391delCAG	ENST00000518156.2	+	1	530_532	c.100_102delCAG	c.(100-102)cagdel	p.Q44del	DLX6-AS1_ENST00000437541.1_RNA|DLX6-AS2_ENST00000606174.1_RNA|DLX6-AS1_ENST00000430027.3_RNA|DLX6-AS1_ENST00000458352.2_RNA|DLX6-AS1_ENST00000430404.2_RNA|DLX6-AS1_ENST00000437331.2_RNA|DLX6-AS1_ENST00000431497.2_RNA|DLX6_ENST00000555308.1_5'Flank|DLX6-AS1_ENST00000605417.1_RNA|DLX6_ENST00000007660.5_Intron|DLX6-AS1_ENST00000452769.2_RNA			P56179	DLX6_HUMAN	distal-less homeobox 6	0					anatomical structure formation involved in morphogenesis (GO:0048646)|embryonic limb morphogenesis (GO:0030326)|epithelial cell differentiation (GO:0030855)|head development (GO:0060322)|inner ear morphogenesis (GO:0042472)|nervous system development (GO:0007399)|palate development (GO:0060021)|positive regulation of epithelial cell proliferation (GO:0050679)|skeletal system development (GO:0001501)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|kidney(1)|large_intestine(1)|liver(2)|lung(4)|ovary(2)|urinary_tract(1)	12	all_cancers(62;9.56e-09)|all_epithelial(64;7.38e-09)|Esophageal squamous(72;0.0125)|all_lung(186;0.0855)|Lung NSC(181;0.0858)					gcagcagcaacagcagcagcagc	0.68																																						ENST00000518156.2																			0				central_nervous_system(1)|kidney(1)|large_intestine(1)|liver(2)|lung(4)|ovary(2)|urinary_tract(1)	12						c.(100-102)del		distal-less homeobox 6				71,2005		9,53,976						-0.1	1			6	237,4797		8,221,2288	no	coding	DLX6	NM_005222.3		17,274,3264	A1A1,A1R,RR		4.708,3.42,4.3319				308,6802				SO:0001651	inframe_deletion	1750				nervous system development|skeletal system development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:96635389_96635391delCAG		CCDS47647.1, CCDS47647.2	7q21.3	2011-06-20	2005-12-22		ENSG00000006377	ENSG00000006377		"Homeoboxes / ANTP class : NKL subclass"	2919	protein-coding gene	gene with protein product		600030	"distal-less homeo box 6"			7907794	Standard	NM_005222		Approved		uc022ahu.1	P56179	OTTHUMG00000154201	ENST00000518156.2:c.100_102delCAG	7.37:g.96635398_96635400delCAG	ENSP00000428480:p.Gln44del					DLX6-AS1_ENST00000430404.2_RNA|DLX6-AS1_ENST00000458352.2_RNA|DLX6_ENST00000007660.5_Intron|DLX6-AS1_ENST00000437541.1_RNA|DLX6-AS1_ENST00000452769.2_RNA|DLX6-AS1_ENST00000430027.2_RNA|DLX6-AS1_ENST00000437331.2_RNA|DLX6-AS1_ENST00000605417.1_RNA	p.Q44del			P56179	DLX6_HUMAN			1	530_532	+	all_cancers(62;9.56e-09)|all_epithelial(64;7.38e-09)|Esophageal squamous(72;0.0125)|all_lung(186;0.0855)|Lung NSC(181;0.0858)		0					A4D1I2|B3KSQ0|J3KR92|Q3ZAR6|Q9UPL2	In_Frame_Del	DEL	ENST00000518156.2	37	c.100_102delCAG	CCDS47647.2																																																																																				0.68	DLX6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334373.4	NM_005222		3	4						3	4	---	---	---	---	-	96635391	CAG	-	96635389	7	5	98	1	0	1	0	1	0	0	0	0	4575	479	17	0	102	0	DLX6	7	96635389	In_Frame_Del	DEL	CAG	TCGA-EJ-7786-01A-11D-2114-08	11963856	96635389	62503274	23	5502											
SOHLH1	402381	broad.mit.edu	37	chr9	138588485	138588485	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	agggggcagcccaccccgcaCctggcacagccccaacagtg	9	2	12	18	1	0	0	0	0	0	0	0	0	0	0	6	3	3	3	6	3	1	0			TCGA-EJ-7786-01A-11D-2114-08	TCGA-EJ-7786-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090a3fe0-0591-40bd-80fc-485baf11cc56	8d1ae986-87cd-496a-956f-5dfe60cea2e7	g.chr9:138588485C>A	ENST00000298466.5	-	5	694	c.634G>T	c.(634-636)Gtg>Ttg	p.V212L	SOHLH1_ENST00000425225.1_Missense_Mutation_p.V212L	NM_001012415.2	NP_001012415	Q5JUK2	SOLH1_HUMAN	spermatogenesis and oogenesis specific basic helix-loop-helix 1	212					oogenesis (GO:0048477)|ovarian follicle development (GO:0001541)|positive regulation of transcription, DNA-templated (GO:0045893)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(5)|prostate(1)	12		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;1.66e-07)|Epithelial(140;1.11e-06)|all cancers(34;6.45e-05)		CCACCCCGCACCTGGCACAGC	0.672																																						ENST00000298466.5																			0				breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(5)|prostate(1)	12						c.(634-636)Gtg>Ttg		spermatogenesis and oogenesis specific basic helix-loop-helix 1							43	40	41					9																	138588485		2202	4298	6500	SO:0001583	missense	402381				cell differentiation|multicellular organismal development|oogenesis|regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding	g.chr9:138588485C>A	BC031861	CCDS35174.1, CCDS48054.1	9q34.3	2013-05-21	2006-03-16	2006-03-16	ENSG00000165643	ENSG00000165643		"Basic helix-loop-helix proteins"	27845	protein-coding gene	gene with protein product	"spermatogenesis associated 27"	610224	"chromosome 9 open reading frame 157"	C9orf157		12477932	Standard	NM_001012415		Approved	NOHLH, TEB2, bA100C15.3, bHLHe80, SPATA27	uc010nbe.3	Q5JUK2	OTTHUMG00000020915	ENST00000298466.5:c.634G>T	9.37:g.138588485C>A	ENSP00000298466:p.Val212Leu					SOHLH1_ENST00000425225.1_Missense_Mutation_p.V212L	p.V212L	NM_001012415.2	NP_001012415.2	Q5JUK2	SOLH1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.66e-07)|Epithelial(140;1.11e-06)|all cancers(34;6.45e-05)	5	694	-		Myeloproliferative disorder(178;0.0511)	212					C9JG81|Q5EE14|Q5EGC2|Q8NEE3	Missense_Mutation	SNP	ENST00000298466.5	37	c.634G>T	CCDS35174.1	.	.	.	.	.	.	.	.	.	.	C	9.051	0.992153	0.18966	.	.	ENSG00000165643	ENST00000298466;ENST00000425225	T;T	0.28666	1.6;1.7	1.95	0.943	0.19531	.	.	.	.	.	T	0.16811	0.0404	L	0.32530	0.975	0.09310	N	1	B;B	0.22211	0.066;0.039	B;B	0.20955	0.032;0.014	T	0.34104	-0.9842	9	0.05436	T	0.98	-6.1775	5.9873	0.19442	0.0:0.6692:0.3308:0.0	.	212;212	Q5JUK2-2;Q5JUK2	.;SOLH1_HUMAN	L	212	ENSP00000298466:V212L;ENSP00000404438:V212L	ENSP00000298466:V212L	V	-	1	0	SOHLH1	137728306	0.000000	0.05858	0.009000	0.14445	0.006000	0.05464	-0.039000	0.12124	0.328000	0.23435	0.563000	0.77884	GTG		0.672	SOHLH1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000055018.2	NM_001012415		11	28	1	0	3.07112e-06	1	3.46739e-06	11	28					A	138588485	C	A	138588485	3	1	98	1	0	0	0	0	1	0	0	0	14923	507	18	5	586	5	SOHLH1	9	138588485	Missense_Mutation	SNP	C	TCGA-EJ-7786-01A-11D-2114-08		138588485	2624946	24	5503											
CCKBR	887	broad.mit.edu	37	chr11	6281223	6281223	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgggccgggggcttccctgtGccgcccgggggcgcctctcc	0	6	17	18	5	1	0	0	0	1	0	3	0	2	0	6	5	1	1	6	5	0	1			TCGA-EJ-7786-01A-11D-2114-08	TCGA-EJ-7786-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090a3fe0-0591-40bd-80fc-485baf11cc56	8d1ae986-87cd-496a-956f-5dfe60cea2e7	g.chr11:6281223G>C	ENST00000334619.2	+	1	258	c.65G>C	c.(64-66)tGc>tCc	p.C22S	CCKBR_ENST00000532715.1_Missense_Mutation_p.C22S|CCKBR_ENST00000525462.1_Missense_Mutation_p.C22S|CCKBR_ENST00000525014.1_Missense_Mutation_p.C22S|CCKBR_ENST00000531712.1_Missense_Mutation_p.C22S	NM_176875.3	NP_795344.1	P32239	GASR_HUMAN	cholecystokinin B receptor	22					cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cholecystokinin signaling pathway (GO:0038188)|digestion (GO:0007586)|digestive tract development (GO:0048565)|feeding behavior (GO:0007631)|gastric acid secretion (GO:0001696)|gland development (GO:0048732)|metabolic process (GO:0008152)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of phosphatidylinositol 3-kinase activity (GO:0043551)|sensory perception (GO:0007600)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase regulator activity (GO:0046935)|cholecystokinin receptor activity (GO:0004951)|gastrin receptor activity (GO:0015054)|phosphatidylinositol phospholipase C activity (GO:0004435)|type B gastrin/cholecystokinin receptor binding (GO:0031741)			NS(2)|breast(2)|endometrium(4)|kidney(13)|large_intestine(10)|lung(22)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;2.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.139)	Pentagastrin(DB00183)	GCTTCCCTGTGCCGCCCGGGG	0.716																																						ENST00000525462.1																			0				NS(2)|breast(2)|endometrium(4)|kidney(13)|large_intestine(10)|lung(22)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61						c.(64-66)tGc>tCc		cholecystokinin B receptor	Pentagastrin(DB00183)						9	13	11					11																	6281223		2164	4244	6408	SO:0001583	missense	887				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cell proliferation|digestion|elevation of cytosolic calcium ion concentration|feeding behavior|positive regulation of cell proliferation|sensory perception		1-phosphatidylinositol-3-kinase regulator activity|gastrin receptor activity|phosphatidylinositol phospholipase C activity|type B gastrin/cholecystokinin receptor binding	g.chr11:6281223G>C	D13305	CCDS7761.1	11p15.4	2012-08-10			ENSG00000110148	ENSG00000110148		"GPCR / Class A : Cholecystokinin receptors"	1571	protein-coding gene	gene with protein product		118445				1280419	Standard	NM_176875		Approved		uc001mcp.3	P32239	OTTHUMG00000133380	ENST00000334619.2:c.65G>C	11.37:g.6281223G>C	ENSP00000335544:p.Cys22Ser					CCKBR_ENST00000532715.1_Missense_Mutation_p.C22S|CCKBR_ENST00000525014.1_Missense_Mutation_p.C22S|CCKBR_ENST00000334619.2_Missense_Mutation_p.C22S|CCKBR_ENST00000531712.1_Missense_Mutation_p.C22S	p.C22S			P32239	GASR_HUMAN		Epithelial(150;2.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.139)	1	68	+		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)	22					A8K7P9|O75824|Q16144|Q92492|Q96LC6|Q9NYK7|Q9UBV1	Missense_Mutation	SNP	ENST00000334619.2	37	c.65G>C	CCDS7761.1	.	.	.	.	.	.	.	.	.	.	g	6.182	0.401755	0.11696	.	.	ENSG00000110148	ENST00000334619;ENST00000532715;ENST00000525014;ENST00000525462;ENST00000531712	T;D;T;T;T	0.82619	0.44;-1.63;0.05;0.44;0.08	2.75	2.75	0.32379	.	0.141986	0.32640	U	0.005837	D	0.85191	0.5640	M	0.65975	2.015	0.30137	N	0.804284	D;B	0.53462	0.96;0.255	D;B	0.69142	0.962;0.053	T	0.77822	-0.2445	10	0.05351	T	0.99	.	9.2026	0.37268	0.0:0.0:1.0:0.0	.	22;22	P32239-2;P32239	.;GASR_HUMAN	S	22	ENSP00000335544:C22S;ENSP00000432079:C22S;ENSP00000437001:C22S;ENSP00000435534:C22S;ENSP00000435675:C22S	ENSP00000335544:C22S	C	+	2	0	CCKBR	6237799	1.000000	0.71417	1.000000	0.80357	0.128000	0.20619	2.582000	0.46085	1.859000	0.53934	0.580000	0.79431	TGC		0.716	CCKBR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257230.2	NM_176875		3	10	0	0	0	1	0	3	10					C	6281223	G	C	6281223	3	2	98	1	0	0	0	0	1	0	0	0	2881	1319	46	5	67	5	CCKBR	11	6281223	Missense_Mutation	SNP	G	TCGA-EJ-7786-01A-11D-2114-08		6281223	128725293	25	5504											
ZNF215	7762	broad.mit.edu	37	chr11	6977519	6977519	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gaagcaaaggcctgcacaagCaataaatgtggaaaggcctt	16	6	11	8	0	0	0	0	0	0	0	0	2	0	1	2	3	3	3	2	3	7	2			TCGA-EJ-7786-01A-11D-2114-08	TCGA-EJ-7786-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090a3fe0-0591-40bd-80fc-485baf11cc56	8d1ae986-87cd-496a-956f-5dfe60cea2e7	g.chr11:6977519C>T	ENST00000278319.5	+	7	1899	c.1311C>T	c.(1309-1311)agC>agT	p.S437S	ZNF215_ENST00000414517.2_Silent_p.S437S|ZNF215_ENST00000529903.1_Intron	NM_013250.2	NP_037382.2	Q9UL58	ZN215_HUMAN	zinc finger protein 215	437					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(4)	32				Epithelial(150;6.33e-08)|BRCA - Breast invasive adenocarcinoma(625;0.134)		CCTGCACAAGCAATAAATGTG	0.378																																						ENST00000278319.5																			0				NS(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(4)	32						c.(1309-1311)agC>agT		zinc finger protein 215							80	80	80					11																	6977519		2201	4296	6497	SO:0001819	synonymous_variant	7762				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr11:6977519C>T	AF056618	CCDS7775.1	11p15.4	2013-01-09			ENSG00000149054	ENSG00000149054		"Zinc fingers, C2H2-type", "-", "-", "-"	13007	protein-coding gene	gene with protein product		605016					Standard	XM_005253130		Approved	ZKSCAN11, ZSCAN43	uc001mey.3	Q9UL58	OTTHUMG00000165507	ENST00000278319.5:c.1311C>T	11.37:g.6977519C>T						ZNF215_ENST00000414517.2_Silent_p.S437S|ZNF215_ENST00000529903.1_Intron	p.S437S	NM_013250.2	NP_037382.2	Q9UL58	ZN215_HUMAN		Epithelial(150;6.33e-08)|BRCA - Breast invasive adenocarcinoma(625;0.134)	7	1899	+			437					Q96C84	Silent	SNP	ENST00000278319.5	37	c.1311C>T	CCDS7775.1																																																																																				0.378	ZNF215-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384550.1			4	55	0	0	0	1	0	4	55					T	6977519	C	T	6977519	2	4	98	1	0	0	0	0	0	0	0	1	17768	709	25	3		3	ZNF215	11	6977519	Silent	SNP	C	TCGA-EJ-7786-01A-11D-2114-08	696296	6977519	128028997	26	5505											
OR8H2	390151	broad.mit.edu	37	chr11	55873014	55873014	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acgtggtttccatgagcagaTtgcatttctacgactcaaac	11	12	8	10	2	2	2	1	1	1	1	3	3	3	2	1	1	4	3	1	1	2	4			TCGA-EJ-7786-01A-11D-2114-08	TCGA-EJ-7786-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090a3fe0-0591-40bd-80fc-485baf11cc56	8d1ae986-87cd-496a-956f-5dfe60cea2e7	g.chr11:55873014T>A	ENST00000313503.1	+	1	496	c.496T>A	c.(496-498)Ttg>Atg	p.L166M		NM_001005200.1	NP_001005200.1	Q8N162	OR8H2_HUMAN	olfactory receptor, family 8, subfamily H, member 2	166						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(38)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	61	Esophageal squamous(21;0.00693)					CATGAGCAGATTGCATTTCTA	0.428										HNSCC(53;0.14)																												ENST00000313503.1																			0				breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(38)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	61						c.(496-498)Ttg>Atg		olfactory receptor, family 8, subfamily H, member 2							254	228	237					11																	55873014		2201	4296	6497	SO:0001583	missense	390151				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55873014T>A	AB065657	CCDS31518.1	11q11	2012-08-09			ENSG00000181767	ENSG00000181767		"GPCR / Class A : Olfactory receptors"	15308	protein-coding gene	gene with protein product							Standard	NM_001005200		Approved		uc010riy.2	Q8N162	OTTHUMG00000166832	ENST00000313503.1:c.496T>A	11.37:g.55873014T>A	ENSP00000323982:p.Leu166Met	HNSCC(53;0.14)					p.L166M	NM_001005200.1	NP_001005200.1	Q8N162	OR8H2_HUMAN			1	496	+	Esophageal squamous(21;0.00693)		166					Q6IFC1	Missense_Mutation	SNP	ENST00000313503.1	37	c.496T>A	CCDS31518.1	.	.	.	.	.	.	.	.	.	.	t	14.52	2.559988	0.45590	.	.	ENSG00000181767	ENST00000313503	T	0.00293	8.26	3.35	-1.97	0.07503	GPCR, rhodopsin-like superfamily (1);	0.172224	0.27539	N	0.018915	T	0.00552	0.0018	M	0.86573	2.825	0.09310	N	1	D	0.76494	0.999	D	0.76575	0.988	T	0.43523	-0.9386	10	0.87932	D	0	.	6.0686	0.19877	0.0:0.3887:0.1383:0.4729	.	166	Q8N162	OR8H2_HUMAN	M	166	ENSP00000323982:L166M	ENSP00000323982:L166M	L	+	1	2	OR8H2	55629590	0.000000	0.05858	0.000000	0.03702	0.083000	0.17756	-2.714000	0.00815	-0.278000	0.09180	-0.683000	0.03753	TTG		0.428	OR8H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391540.1	NM_001005200		8	215	0	0	0	1	0	8	215					A	55873014	T	A	55873014	3	1	98	1	0	0	0	0	1	0	0	0	11238	1490	52	5	498	5	OR8H2	11	55873014	Missense_Mutation	SNP	T	TCGA-EJ-7786-01A-11D-2114-08	48895495	55873014	79133502	27	5506											
SHANK2	22941	broad.mit.edu	37	chr11	70336436	70336436	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgcccagaaacggggctttTgggctcccaggaacagtggg	9	7	15	10	1	0	1	0	0	0	1	1	2	1	2	2	5	3	2	2	5	2	2			TCGA-EJ-7786-01A-11D-2114-08	TCGA-EJ-7786-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090a3fe0-0591-40bd-80fc-485baf11cc56	8d1ae986-87cd-496a-956f-5dfe60cea2e7	g.chr11:70336436T>G	ENST00000423696.2	-	13	1395	c.1359A>C	c.(1357-1359)ccA>ccC	p.P453P	SHANK2_ENST00000449833.2_Silent_p.P237P|SHANK2_ENST00000409530.1_Silent_p.P243P|SHANK2_ENST00000357171.3_Silent_p.P244P|SHANK2_ENST00000409161.1_Silent_p.P236P|SHANK2_ENST00000449116.2_Silent_p.P234P|SHANK2_ENST00000338508.4_Silent_p.P833P			Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2	453					adult behavior (GO:0030534)|learning (GO:0007612)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|vocalization behavior (GO:0071625)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|cell junction (GO:0030054)|ciliary membrane (GO:0060170)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|growth cone (GO:0030426)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	GKAP/Homer scaffold activity (GO:0030160)|ionotropic glutamate receptor binding (GO:0035255)			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			ACGGGGCTTTTGGGCTCCCAG	0.587																																						ENST00000338508.4																			0				NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62						c.(2497-2499)ccA>ccC		SH3 and multiple ankyrin repeat domains 2							120	113	115					11																	70336436		2200	4294	6494	SO:0001819	synonymous_variant	22941				intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding	g.chr11:70336436T>G	AF141901		11q13.2	2013-01-10			ENSG00000162105	ENSG00000162105		"Sterile alpha motif (SAM) domain containing", "Ankyrin repeat domain containing"	14295	protein-coding gene	gene with protein product		603290	"cortactin binding protein 1"	CORTBP1		10506216	Standard	XM_005277930		Approved	CTTNBP1, ProSAP1, SHANK, SPANK-3	uc001oqc.3	Q9UPX8	OTTHUMG00000154615	ENST00000423696.2:c.1359A>C	11.37:g.70336436T>G						SHANK2_ENST00000409161.1_Silent_p.P236P|SHANK2_ENST00000449833.2_Silent_p.P237P|SHANK2_ENST00000357171.3_Silent_p.P244P|SHANK2_ENST00000449116.2_Silent_p.P234P|SHANK2_ENST00000423696.2_Silent_p.P453P|SHANK2_ENST00000409530.1_Silent_p.P243P	p.P833P			Q9UPX8	SHAN2_HUMAN	LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)		30	2498	-			453					C0SPG8|C0SPG9|Q3Y8G9|Q52LK2|Q9UKP1	Silent	SNP	ENST00000423696.2	37	c.2499A>C		.	.	.	.	.	.	.	.	.	.	T	10.78	1.446632	0.25987	.	.	ENSG00000162105	ENST00000412252	.	.	.	4.63	-7.76	0.01232	.	.	.	.	.	T	0.35653	0.0939	.	.	.	0.52099	D	0.999945	.	.	.	.	.	.	T	0.42982	-0.9419	4	.	.	.	.	2.6556	0.05011	0.2404:0.4035:0.0828:0.2732	.	.	.	.	Q	243	.	.	K	-	1	0	SHANK2	70014084	0.005000	0.15991	0.958000	0.39756	0.920000	0.55202	-1.895000	0.01606	-1.097000	0.03042	0.379000	0.24179	AAA		0.587	SHANK2-203	KNOWN	basic	protein_coding	protein_coding		NM_012309		3	96	0	0	0	1	0	3	96					G	70336436	T	G	70336436	2	3	98	1	0	0	0	0	0	0	0	1	14265	1799	63	5		5	SHANK2	11	70336436	Silent	SNP	T	TCGA-EJ-7786-01A-11D-2114-08	14463422	70336436	64670080	28	5507											
CDKN1B	1027	broad.mit.edu	37	chr12	12871144	12871145	+	Frame_Shift_Ins	INS	-	-	CT																															ttaattggggctccggctaaINSctctgaggacacgcatttgg																										TCGA-EJ-7786-01A-11D-2114-08	TCGA-EJ-7786-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090a3fe0-0591-40bd-80fc-485baf11cc56	8d1ae986-87cd-496a-956f-5dfe60cea2e7	g.chr12:12871144_12871145insCT	ENST00000228872.4	+	1	1087_1088	c.371_372insCT	c.(370-375)aactctfs	p.NS124fs	CDKN1B_ENST00000396340.1_Frame_Shift_Ins_p.NS124fs|CDKN1B_ENST00000477087.1_Intron	NM_004064.3	NP_004055.1	P46527	CDN1B_HUMAN	cyclin-dependent kinase inhibitor 1B (p27, Kip1)	124					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|autophagic cell death (GO:0048102)|cell cycle arrest (GO:0007050)|cellular response to antibiotic (GO:0071236)|cellular response to lithium ion (GO:0071285)|cellular response to organic cyclic compound (GO:0071407)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G1/S transition of mitotic cell cycle (GO:0000082)|innate immune response (GO:0045087)|inner ear development (GO:0048839)|mitotic cell cycle (GO:0000278)|mitotic cell cycle arrest (GO:0071850)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cellular component movement (GO:0051271)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|negative regulation of kinase activity (GO:0033673)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of phosphorylation (GO:0042326)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell death (GO:0010942)|positive regulation of cell proliferation (GO:0008284)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of protein catabolic process (GO:0045732)|potassium ion transport (GO:0006813)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|response to amino acid (GO:0043200)|response to cadmium ion (GO:0046686)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to glucose (GO:0009749)|response to hypoxia (GO:0001666)|response to peptide hormone (GO:0043434)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|protein phosphatase binding (GO:0019903)|transforming growth factor beta receptor, cytoplasmic mediator activity (GO:0005072)			breast(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(5)	13		Prostate(47;0.0322)|all_epithelial(100;0.159)		BRCA - Breast invasive adenocarcinoma(232;0.0336)		GCTCCGGCTAACTCTGAGGACA	0.653																																						ENST00000228872.4																			0				breast(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(5)	13						c.(370-372)atcfs		cyclin-dependent kinase inhibitor 1B (p27, Kip1)																																				SO:0001589	frameshift_variant	1027				autophagic cell death|cell cycle arrest|cellular response to lithium ion|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of transcription, DNA-dependent|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of protein catabolic process|S phase of mitotic cell cycle	cytosol|endosome|nucleoplasm	cyclin-dependent protein kinase inhibitor activity|protein phosphatase binding|transforming growth factor beta receptor, cytoplasmic mediator activity	g.chr12:12871144_12871145insCT	AF480891	CCDS8653.1	12p13.1-p12	2008-08-04			ENSG00000111276	ENSG00000111276			1785	protein-coding gene	gene with protein product		600778				8033212	Standard	NM_004064		Approved	KIP1, P27KIP1	uc001rat.2	P46527	OTTHUMG00000149914	ENST00000228872.4:c.374_375dupCT	12.37:g.12871147_12871148dupCT	ENSP00000228872:p.Asn124fs					CDKN1B_ENST00000396340.1_Frame_Shift_Ins_p.I124fs|CDKN1B_ENST00000477087.1_Intron	p.I124fs	NM_004064.3	NP_004055.1	P46527	CDN1B_HUMAN		BRCA - Breast invasive adenocarcinoma(232;0.0336)	1	1087_1088	+		Prostate(47;0.0322)|all_epithelial(100;0.159)	124					Q16307|Q5U0H2|Q9BUS6	Frame_Shift_Ins	INS	ENST00000228872.4	37	c.371_372insCT	CCDS8653.1																																																																																				0.653	CDKN1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313878.2	NM_004064		16	42						16	42	---	---	---	---	CT	12871145	-	CT	12871144	7	5	98	1	0	1	1	0	0	0	0	0	3159	43	2	0	373	0	CDKN1B	12	12871144	Frame_Shift_Ins	INS	-	TCGA-EJ-7786-01A-11D-2114-08		12871144	120980751	29	5508											
OR6C65	403282	broad.mit.edu	37	chr12	55794777	55794777	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctggttttctcattattttTccccccgtgattatgggcct	4	18	8	11	1	1	1	1	1	1	0	3	1	2	1	4	2	0	2	4	2	2	6	rs369117094|rs371380701		TCGA-EJ-7786-01A-11D-2114-08	TCGA-EJ-7786-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090a3fe0-0591-40bd-80fc-485baf11cc56	8d1ae986-87cd-496a-956f-5dfe60cea2e7	g.chr12:55794777T>C	ENST00000379665.2	+	1	564	c.465T>C	c.(463-465)ttT>ttC	p.F155F		NM_001005518.1	NP_001005518.1	A6NJZ3	O6C65_HUMAN	olfactory receptor, family 6, subfamily C, member 65	155						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(1)|endometrium(2)|large_intestine(3)|lung(9)	15						TCATTATTTTTCCCCCCGTGA	0.438																																						ENST00000379665.2																			0				cervix(1)|endometrium(2)|large_intestine(3)|lung(9)	15						c.(463-465)ttT>ttC		olfactory receptor, family 6, subfamily C, member 65				2,4404	2.1+/-5.4	0,2,2201	147	155	152		465	-4.8	0	12		152	0,8600		0,0,4300	no	coding-synonymous	OR6C65	NM_001005518.1		0,2,6501	CC,CT,TT		0.0,0.0454,0.0154		155/313	55794777	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	403282				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr12:55794777T>C		CCDS31821.1	12q13.2	2013-09-23			ENSG00000205328	ENSG00000205328		"GPCR / Class A : Olfactory receptors"	31295	protein-coding gene	gene with protein product							Standard	NM_001005518		Approved		uc010spl.2	A6NJZ3	OTTHUMG00000169955	ENST00000379665.2:c.465T>C	12.37:g.55794777T>C							p.F155F	NM_001005518.1	NP_001005518.1	A6NJZ3	O6C65_HUMAN			1	564	+			155					B2RNH9	Silent	SNP	ENST00000379665.2	37	c.465T>C	CCDS31821.1																																																																																				0.438	OR6C65-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406674.1			4	151	0	0	0	1	0	4	151					C	55794777	T	C	55794777	2	2	98	1	0	0	0	0	0	0	0	1	11195	1780	62	4		4	OR6C65	12	55794777	Silent	SNP	T	TCGA-EJ-7786-01A-11D-2114-08	42923633	55794777	78057118	30	5509											
ACADS	35	broad.mit.edu	37	chr12	121176678	121176678	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcccggctgctgacctggcGcgctgccatgctgaaggata	6	8	14	13	3	0	2	0	2	0	0	0	3	0	3	3	3	4	4	3	3	2	1	rs199633532		TCGA-EJ-7786-01A-11D-2114-08	TCGA-EJ-7786-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090a3fe0-0591-40bd-80fc-485baf11cc56	8d1ae986-87cd-496a-956f-5dfe60cea2e7	g.chr12:121176678G>A	ENST00000242592.4	+	8	1140	c.989G>A	c.(988-990)cGc>cAc	p.R330H	ACADS_ENST00000411593.2_Missense_Mutation_p.R326H|RP11-173P15.7_ENST00000542620.1_RNA	NM_000017.2	NP_000008.1	P16219	ACADS_HUMAN	acyl-CoA dehydrogenase, C-2 to C-3 short chain	330					butyrate catabolic process (GO:0046359)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|fatty acid beta-oxidation using acyl-CoA dehydrogenase (GO:0033539)|protein homotetramerization (GO:0051289)|response to glucocorticoid (GO:0051384)|response to starvation (GO:0042594)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	acyl-CoA dehydrogenase activity (GO:0003995)|butyryl-CoA dehydrogenase activity (GO:0004085)|fatty-acyl-CoA binding (GO:0000062)|flavin adenine dinucleotide binding (GO:0050660)	p.R330H(2)		central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(3)	14	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)	Lung NSC(355;0.163)			Flavin adenine dinucleotide(DB03147)	CTGACCTGGCGCGCTGCCATG	0.642													G|||	1	0.000199681	0	0	5008	,	,		17348	0		0.001	False		,,,				2504	0					ENST00000242592.4																			2	Substitution - Missense(2)	p.R330H(2)	prostate(1)|kidney(1)	central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(3)	14	GRCh37	CM067634	ACADS	M		c.(988-990)cGc>cAc		acyl-CoA dehydrogenase, C-2 to C-3 short chain	NADH(DB00157)						46	52	50					12																	121176678		2203	4300	6503	SO:0001583	missense	35					mitochondrial matrix	butyryl-CoA dehydrogenase activity	g.chr12:121176678G>A	M26393	CCDS9207.1	12q24.31	2012-07-13	2010-04-30		ENSG00000122971	ENSG00000122971	1.3.8.1		90	protein-coding gene	gene with protein product		606885	"acyl-Coenzyme A dehydrogenase, C-2 to C-3 short chain"			2565344	Standard	NM_000017		Approved	SCAD, ACAD3	uc001tza.4	P16219	OTTHUMG00000169203	ENST00000242592.4:c.989G>A	12.37:g.121176678G>A	ENSP00000242592:p.Arg330His					ACADS_ENST00000411593.2_Missense_Mutation_p.R326H	p.R330H	NM_000017.2	NP_000008.1	P16219	ACADS_HUMAN			8	1140	+	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)	Lung NSC(355;0.163)	330					P78331	Missense_Mutation	SNP	ENST00000242592.4	37	c.989G>A	CCDS9207.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.357217	0.82243	.	.	ENSG00000122971	ENST00000242592;ENST00000411593	D;D	0.96619	-4.07;-4.07	4.63	4.63	0.57726	Acyl-CoA dehydrogenase/oxidase C-terminal (2);Acyl-CoA oxidase/dehydrogenase, type 1 (1);	0.053187	0.64402	D	0.000001	D	0.96694	0.8921	L	0.33792	1.035	0.58432	D	0.999993	D;P;P	0.89917	1.0;0.737;0.737	D;B;B	0.80764	0.994;0.14;0.14	D	0.97682	1.0173	10	0.62326	D	0.03	.	17.5068	0.87748	0.0:0.0:1.0:0.0	.	326;330;330	E9PE82;E5KSD5;P16219	.;.;ACADS_HUMAN	H	330;326	ENSP00000242592:R330H;ENSP00000401045:R326H	ENSP00000242592:R330H	R	+	2	0	ACADS	119661061	1.000000	0.71417	0.916000	0.36221	0.916000	0.54674	7.185000	0.77714	2.125000	0.65367	0.561000	0.74099	CGC		0.642	ACADS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402861.1	NM_000017		4	96	0	0	0	1	0	4	96					A	121176678	G	A	121176678	3	1	98	1	0	0	0	0	1	0	0	0	114	1087	38	1	1019	1	ACADS	12	121176678	Missense_Mutation	SNP	G	TCGA-EJ-7786-01A-11D-2114-08	65381901	121176678	12675217	31	5510											
HPD	3242	broad.mit.edu	37	chr12	122292680	122292680	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggctcccgcatgattttggCgccccgttcccgtgctttct	2	13	11	15	4	1	1	0	1	1	0	3	1	3	1	4	2	1	4	4	2	0	4			TCGA-EJ-7786-01A-11D-2114-08	TCGA-EJ-7786-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090a3fe0-0591-40bd-80fc-485baf11cc56	8d1ae986-87cd-496a-956f-5dfe60cea2e7	g.chr12:122292680C>T	ENST00000289004.4	-	7	378	c.343G>A	c.(343-345)Gcc>Acc	p.A115T	RP11-7M8.2_ENST00000543848.1_RNA|HPD_ENST00000543163.1_Missense_Mutation_p.A76T	NM_002150.2	NP_002141	P32754	HPPD_HUMAN	4-hydroxyphenylpyruvate dioxygenase	115					cellular nitrogen compound metabolic process (GO:0034641)|L-phenylalanine catabolic process (GO:0006559)|small molecule metabolic process (GO:0044281)|tyrosine catabolic process (GO:0006572)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	4-hydroxyphenylpyruvate dioxygenase activity (GO:0003868)|metal ion binding (GO:0046872)			breast(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(8)|urinary_tract(1)	18	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000105)|Epithelial(86;0.000352)|BRCA - Breast invasive adenocarcinoma(302;0.225)	Nitisinone(DB00348)	ATGATTTTGGCGCCCCGTTCC	0.602																																						ENST00000543163.1																			0				breast(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(8)|urinary_tract(1)	18						c.(226-228)Gcc>Acc		4-hydroxyphenylpyruvate dioxygenase	Nitisinone(DB00348)						149	128	135					12																	122292680		2203	4300	6503	SO:0001583	missense	3242				L-phenylalanine catabolic process|tyrosine catabolic process	cytosol	4-hydroxyphenylpyruvate dioxygenase activity|metal ion binding	g.chr12:122292680C>T	BC014790	CCDS9224.1, CCDS53839.1	12q24.31	2013-09-19			ENSG00000158104	ENSG00000158104	1.13.11.27		5147	protein-coding gene	gene with protein product	"glyoxalase domain containing 3"	609695		PPD			Standard	NM_001171993		Approved	4-HPPD, 4HPPD, GLOD3	uc001ubj.3	P32754	OTTHUMG00000169081	ENST00000289004.4:c.343G>A	12.37:g.122292680C>T	ENSP00000289004:p.Ala115Thr					HPD_ENST00000289004.4_Missense_Mutation_p.A115T	p.A76T	NM_001171993.1	NP_001165464.1	P32754	HPPD_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000105)|Epithelial(86;0.000352)|BRCA - Breast invasive adenocarcinoma(302;0.225)	8	671	-	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)		115					A8K461|B3KQ63|Q13234	Missense_Mutation	SNP	ENST00000289004.4	37	c.226G>A	CCDS9224.1	.	.	.	.	.	.	.	.	.	.	C	31	5.098737	0.94197	.	.	ENSG00000158104	ENST00000289004;ENST00000545969;ENST00000543163	T;T	0.66815	-0.23;-0.23	5.29	5.29	0.74685	Glyoxalase/fosfomycin resistance/dioxygenase (1);	0.000000	0.85682	D	0.000000	T	0.79293	0.4421	M	0.85777	2.775	0.80722	D	1	D	0.59357	0.985	P	0.52267	0.694	D	0.83576	0.0115	10	0.72032	D	0.01	-26.0275	17.9063	0.88919	0.0:1.0:0.0:0.0	.	115	P32754	HPPD_HUMAN	T	115;112;76	ENSP00000289004:A115T;ENSP00000441677:A76T	ENSP00000289004:A115T	A	-	1	0	HPD	120777063	1.000000	0.71417	0.986000	0.45419	0.984000	0.73092	7.276000	0.78559	2.478000	0.83669	0.467000	0.42956	GCC		0.602	HPD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402184.1	NM_002150		6	96	0	0	0	1	0	6	96					T	122292680	C	T	122292680	3	4	98	1	0	0	0	0	1	0	0	0	7332	768	27	1	870	1	HPD	12	122292680	Missense_Mutation	SNP	C	TCGA-EJ-7786-01A-11D-2114-08	1116002	122292680	11559215	32	5511											
IRS2	8660	broad.mit.edu	37	chr13	110436062	110436062	+	Frame_Shift_Del	DEL	G	G	-																															ctgcggagaagaagtcgggcGgggtgcccgtggtgaccgcg																								rs199672355		TCGA-EJ-7786-01A-11D-2114-08	TCGA-EJ-7786-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090a3fe0-0591-40bd-80fc-485baf11cc56	8d1ae986-87cd-496a-956f-5dfe60cea2e7	g.chr13:110436062delG	ENST00000375856.3	-	1	2853	c.2339delC	c.(2338-2340)ccgfs	p.P781fs		NM_003749.2	NP_003740.2	Q9Y4H2	IRS2_HUMAN	insulin receptor substrate 2	781					brain development (GO:0007420)|cell proliferation (GO:0008283)|cellular response to glucose stimulus (GO:0071333)|cellular response to insulin stimulus (GO:0032869)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lipid homeostasis (GO:0055088)|mammary gland development (GO:0030879)|negative regulation of B cell apoptotic process (GO:0002903)|negative regulation of kinase activity (GO:0033673)|negative regulation of plasma membrane long-chain fatty acid transport (GO:0010748)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fatty acid beta-oxidation (GO:0032000)|positive regulation of glucose import (GO:0046326)|positive regulation of glucose metabolic process (GO:0010907)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of insulin secretion (GO:0032024)|positive regulation of mesenchymal cell proliferation (GO:0002053)|regulation of lipid metabolic process (GO:0019216)|response to glucose (GO:0009749)|signal transduction (GO:0007165)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	signal transducer activity (GO:0004871)			kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	19	all_cancers(4;7.57e-15)|all_epithelial(4;5.91e-09)|all_lung(23;7.64e-07)|Lung NSC(43;0.000183)|Colorectal(4;0.00159)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0155)	Breast(118;0.159)	all cancers(43;0.00815)|BRCA - Breast invasive adenocarcinoma(86;0.11)|Epithelial(84;0.127)|GBM - Glioblastoma multiforme(44;0.147)			GAAGTCGGGCGGGGTGCCCGT	0.692																																					Melanoma(100;613 2409 40847)	ENST00000375856.3																			0				kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	19						c.(2338-2340)cgfs		insulin receptor substrate 2							12	9	10					13																	110436062		2147	4232	6379	SO:0001589	frameshift_variant	8660				fibroblast growth factor receptor signaling pathway|glucose metabolic process|insulin receptor signaling pathway|lipid homeostasis|negative regulation of B cell apoptosis|negative regulation of kinase activity|negative regulation of plasma membrane long-chain fatty acid transport|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of B cell proliferation|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin secretion|response to glucose stimulus	cytosol|plasma membrane	insulin receptor binding|signal transducer activity	g.chr13:110436062delG	AB000732	CCDS9510.1	13q34	2013-01-10			ENSG00000185950	ENSG00000185950		"Pleckstrin homology (PH) domain containing"	6126	protein-coding gene	gene with protein product		600797				9312143	Standard	NM_003749		Approved		uc001vqv.3	Q9Y4H2	OTTHUMG00000017338	ENST00000375856.3:c.2339delC	13.37:g.110436062delG	ENSP00000365016:p.Pro781fs						p.P781fs	NM_003749.2	NP_003740.2	Q9Y4H2	IRS2_HUMAN	all cancers(43;0.00815)|BRCA - Breast invasive adenocarcinoma(86;0.11)|Epithelial(84;0.127)|GBM - Glioblastoma multiforme(44;0.147)		1	2853	-	all_cancers(4;7.57e-15)|all_epithelial(4;5.91e-09)|all_lung(23;7.64e-07)|Lung NSC(43;0.000183)|Colorectal(4;0.00159)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0155)	Breast(118;0.159)	781					Q96RR2|Q9BZG0|Q9Y6I5	Frame_Shift_Del	DEL	ENST00000375856.3	37	c.2339delC	CCDS9510.1																																																																																				0.692	IRS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045755.1	NM_003749		2	4						2	4	---	---	---	---	-	110436062	G	-	110436062	7	5	98	1	0	1	0	1	0	0	0	0	7841	1116	39	0	1685	0	IRS2	13	110436062	Frame_Shift_Del	DEL	G	TCGA-EJ-7786-01A-11D-2114-08		110436062	4733816	33	5512											
PRMT5	10419	broad.mit.edu	37	chr14	23395506	23395506	+	Splice_Site	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtcagccccaatttcaagagCtacatgaggcaaaagaaaaa	18	6	8	9	0	2	3	2	1	0	2	2	3	2	3	2	1	3	2	2	1	7	2			TCGA-EJ-7786-01A-11D-2114-08	TCGA-EJ-7786-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090a3fe0-0591-40bd-80fc-485baf11cc56	8d1ae986-87cd-496a-956f-5dfe60cea2e7	g.chr14:23395506C>G	ENST00000324366.8	-	7	837		c.e7-1		PRMT5-AS1_ENST00000595662.1_RNA|PRMT5-AS1_ENST00000599580.2_RNA|PRMT5_ENST00000397440.4_Intron|PRMT5-AS1_ENST00000424245.2_RNA|PRMT5_ENST00000397441.2_Splice_Site|PRMT5_ENST00000553641.1_Splice_Site|PRMT5_ENST00000553897.1_Splice_Site|PRMT5_ENST00000216350.8_Splice_Site|PRMT5-AS1_ENST00000587245.2_RNA|PRMT5-AS1_ENST00000590290.1_RNA|PRMT5_ENST00000538452.1_Splice_Site|PRMT5-AS1_ENST00000457443.2_RNA	NM_006109.3	NP_006100.2	O14744	ANM5_HUMAN	protein arginine methyltransferase 5						cell proliferation (GO:0008283)|circadian regulation of gene expression (GO:0032922)|endothelial cell activation (GO:0042118)|gene expression (GO:0010467)|histone H4-R3 methylation (GO:0043985)|ncRNA metabolic process (GO:0034660)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|peptidyl-arginine methylation (GO:0018216)|peptidyl-arginine methylation, to symmetrical-dimethyl arginine (GO:0019918)|peptidyl-arginine N-methylation (GO:0035246)|regulation of mitosis (GO:0007088)|regulation of transcription, DNA-templated (GO:0006355)|RNA metabolic process (GO:0016070)|spliceosomal snRNP assembly (GO:0000387)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|methylosome (GO:0034709)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|core promoter sequence-specific DNA binding (GO:0001046)|histone-arginine N-methyltransferase activity (GO:0008469)|methyltransferase activity (GO:0008168)|protein-arginine omega-N symmetric methyltransferase activity (GO:0035243)|ribonucleoprotein complex binding (GO:0043021)|transcription corepressor activity (GO:0003714)			endometrium(4)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	25	all_cancers(95;2.76e-05)			GBM - Glioblastoma multiforme(265;0.0126)		ATTTCAAGAGCTACATGAGGC	0.473																																						ENST00000324366.8																			0				endometrium(4)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	25						c.e7-1		protein arginine methyltransferase 5							67	71	70					14																	23395506		2203	4300	6503	SO:0001630	splice_region_variant	10419				cell proliferation|histone H4-R3 methylation|ncRNA metabolic process|regulation of mitosis|spliceosomal snRNP assembly|transcription, DNA-dependent	cytosol|nucleus	histone-arginine N-methyltransferase activity|protein binding|protein-arginine omega-N symmetric methyltransferase activity|ribonucleoprotein binding	g.chr14:23395506C>G	AF015913	CCDS9579.1, CCDS41922.1, CCDS61394.1, CCDS61395.1, CCDS61396.1	14q11.2	2014-06-12	2006-02-16	2006-02-16	ENSG00000100462	ENSG00000100462	2.1.1.125	"Protein arginine methyltransferases"	10894	protein-coding gene	gene with protein product		604045	"skb1 (S. pombe) homolog", "SKB1 homolog (S. pombe)"	HRMT1L5, SKB1		9843966	Standard	NM_001282955		Approved	SKB1Hs	uc001whm.1	O14744	OTTHUMG00000028709	ENST00000324366.8:c.614-1G>C	14.37:g.23395506C>G						PRMT5-AS1_ENST00000599580.1_RNA|PRMT5-AS1_ENST00000587245.2_RNA|PRMT5_ENST00000553641.1_Splice_Site|PRMT5_ENST00000397441.2_Splice_Site|PRMT5_ENST00000216350.8_Splice_Site|PRMT5_ENST00000397440.4_Intron|PRMT5_ENST00000553897.1_Splice_Site|PRMT5_ENST00000538452.1_Splice_Site|PRMT5-AS1_ENST00000595662.1_RNA|PRMT5-AS1_ENST00000590290.1_RNA		NM_006109.3	NP_006100.2	O14744	ANM5_HUMAN		GBM - Glioblastoma multiforme(265;0.0126)	7	837	-	all_cancers(95;2.76e-05)							A8MTP3|A8MZ91|B4DX49|B4DY30|B5BU10|D3DS33|E2QRE7|Q6IBR1|Q9UKH1	Splice_Site	SNP	ENST00000324366.8	37		CCDS9579.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.182187	0.78677	.	.	ENSG00000100462	ENST00000324366;ENST00000397441;ENST00000216350;ENST00000538452;ENST00000553897;ENST00000555530;ENST00000554867;ENST00000556616;ENST00000554910	.	.	.	5.37	5.37	0.77165	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.2366	0.89951	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PRMT5	22465346	1.000000	0.71417	1.000000	0.80357	0.916000	0.54674	7.122000	0.77169	2.666000	0.90696	0.561000	0.74099	.		0.473	PRMT5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071674.3		Intron	3	57	0	0	0	1	0	3	57					G	23395506	C	G	23395506	5	3	98	1	0	0	0	0	0	0	1	0	12539	811	28	5	1344	5	PRMT5	14	23395506	Splice_Site	SNP	C	TCGA-EJ-7786-01A-11D-2114-08		23395506	83954034	34	5513											
MDGA2	161357	broad.mit.edu	37	chr14	47530529	47530529	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagatgctacacatgtgtacGtcccaaaatccgtgaatttt	12	12	8	9	2	0	2	0	1	0	1	2	3	2	2	2	0	3	2	2	0	5	4			TCGA-EJ-7786-01A-11D-2114-08	TCGA-EJ-7786-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090a3fe0-0591-40bd-80fc-485baf11cc56	8d1ae986-87cd-496a-956f-5dfe60cea2e7	g.chr14:47530529G>A	ENST00000399232.2	-	7	1605	c.1241C>T	c.(1240-1242)aCg>aTg	p.T414M	MDGA2_ENST00000426342.1_Missense_Mutation_p.T185M|MDGA2_ENST00000439988.3_Missense_Mutation_p.T483M|MDGA2_ENST00000357362.3_Missense_Mutation_p.T185M	NM_001113498.2	NP_001106970.3	Q7Z553	MDGA2_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 2	414	Ig-like 4.				pattern specification process (GO:0007389)|spinal cord motor neuron differentiation (GO:0021522)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5)	76						ACATGTGTACGTCCCAAAATC	0.408																																						ENST00000426342.1																			0				breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5)	76						c.(553-555)aCg>aTg		MAM domain containing glycosylphosphatidylinositol anchor 2							157	143	147					14																	47530529		1893	4116	6009	SO:0001583	missense	161357				spinal cord motor neuron differentiation	anchored to membrane|plasma membrane		g.chr14:47530529G>A	AI859192	CCDS41948.1, CCDS45098.1, CCDS45098.2, CCDS45098.3	14q21.2	2013-01-29	2007-04-03	2007-04-03	ENSG00000139915	ENSG00000139915		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	19835	protein-coding gene	gene with protein product		611128	"MAM domain containing 1"	MAMDC1		15019943	Standard	NM_001113498		Approved		uc001wwj.4	Q7Z553	OTTHUMG00000029429	ENST00000399232.2:c.1241C>T	14.37:g.47530529G>A	ENSP00000382178:p.Thr414Met					MDGA2_ENST00000399232.2_Missense_Mutation_p.T483M|MDGA2_ENST00000439988.2_Missense_Mutation_p.T414M|MDGA2_ENST00000357362.3_Missense_Mutation_p.T185M	p.T185M	NM_182830.3	NP_878250.2	Q7Z553	MDGA2_HUMAN			7	1300	-			414			Ig-like 2.		F6W3S7|J3KPX6	Missense_Mutation	SNP	ENST00000399232.2	37	c.554C>T		.	.	.	.	.	.	.	.	.	.	G	26.5	4.745814	0.89663	.	.	ENSG00000139915	ENST00000439988;ENST00000426342;ENST00000399232;ENST00000357362	T;T;T;T	0.68181	-0.31;-0.31;-0.31;-0.31	5.64	5.64	0.86602	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.52532	U	0.000066	T	0.77638	0.4160	L	0.53561	1.675	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.70920	-0.4741	10	0.15952	T	0.53	.	18.2795	0.90094	0.0:0.0:1.0:0.0	.	414	Q7Z553	MDGA2_HUMAN	M	414;185;483;185	ENSP00000400011:T414M;ENSP00000405456:T185M;ENSP00000382178:T483M;ENSP00000349925:T185M	ENSP00000349925:T185M	T	-	2	0	MDGA2	46600279	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	9.807000	0.99171	2.658000	0.90341	0.655000	0.94253	ACG		0.408	MDGA2-001	KNOWN	upstream_ATG|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000073352.5	NM_182830		6	182	0	0	0	1	0	6	182					A	47530529	G	A	47530529	3	1	98	1	0	0	0	0	1	0	0	0	9407	1145	40	1	1673	1	MDGA2	14	47530529	Missense_Mutation	SNP	G	TCGA-EJ-7786-01A-11D-2114-08	24135023	47530529	59819011	35	5514											
MOAP1	64112	broad.mit.edu	37	chr14	93649914	93649914	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	catcgacagtaattaaaggaTtgtttatcttgaggacacga	14	12	9	6	2	1	1	0	1	1	0	2	5	1	3	0	2	0	2	0	2	4	6			TCGA-EJ-7786-01A-11D-2114-08	TCGA-EJ-7786-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090a3fe0-0591-40bd-80fc-485baf11cc56	8d1ae986-87cd-496a-956f-5dfe60cea2e7	g.chr14:93649914T>C	ENST00000556883.1	-	2	1158	c.674A>G	c.(673-675)aAt>aGt	p.N225S	TMEM251_ENST00000283534.4_5'Flank|RP11-371E8.4_ENST00000557574.1_5'Flank|MOAP1_ENST00000298894.4_Missense_Mutation_p.N225S|TMEM251_ENST00000415050.2_5'Flank			Q96BY2	MOAP1_HUMAN	modulator of apoptosis 1	225					apoptotic signaling pathway (GO:0097190)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|positive regulation of apoptotic process (GO:0043065)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:0001844)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2)	13		all_cancers(154;0.00528)|Acute lymphoblastic leukemia(33;0.0497)|all_epithelial(191;0.125)|all_neural(303;0.13)		Epithelial(152;0.178)|all cancers(159;0.2)|COAD - Colon adenocarcinoma(157;0.204)		aattaaaggattgtttatctt	0.453																																						ENST00000556883.1																			0				central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2)	13						c.(673-675)aAt>aGt		modulator of apoptosis 1							113	124	120					14																	93649914		2203	4300	6503	SO:0001583	missense	64112				activation of caspase activity|apoptotic nuclear change	cytoplasm	protein homodimerization activity	g.chr14:93649914T>C	BC015044	CCDS9908.1	14q32.12	2012-02-09			ENSG00000165943	ENSG00000165943		"Paraneoplastic Ma antigens"	16658	protein-coding gene	gene with protein product	"paraneoplastic Ma antigen family member 4"	609485				11060313	Standard	NM_022151		Approved	MAP-1, PNMA4	uc001ybj.3	Q96BY2	OTTHUMG00000169184	ENST00000556883.1:c.674A>G	14.37:g.93649914T>C	ENSP00000451594:p.Asn225Ser					MOAP1_ENST00000298894.4_Missense_Mutation_p.N225S	p.N225S			Q96BY2	MOAP1_HUMAN		Epithelial(152;0.178)|all cancers(159;0.2)|COAD - Colon adenocarcinoma(157;0.204)	2	1158	-		all_cancers(154;0.00528)|Acute lymphoblastic leukemia(33;0.0497)|all_epithelial(191;0.125)|all_neural(303;0.13)	225					B2RDF6|Q9H833|Q9HAS1	Missense_Mutation	SNP	ENST00000556883.1	37	c.674A>G	CCDS9908.1	.	.	.	.	.	.	.	.	.	.	T	10.22	1.289653	0.23478	.	.	ENSG00000165943	ENST00000298894;ENST00000556883	T;T	0.14144	2.53;2.53	3.65	-3.22	0.05125	.	.	.	.	.	T	0.16257	0.0391	M	0.75615	2.305	0.09310	N	1	B	0.26602	0.154	B	0.28011	0.085	T	0.30446	-0.9978	9	0.52906	T	0.07	0.0015	9.0015	0.36085	0.0:0.512:0.0:0.488	.	225	Q96BY2	MOAP1_HUMAN	S	225	ENSP00000298894:N225S;ENSP00000451594:N225S	ENSP00000298894:N225S	N	-	2	0	MOAP1	92719667	0.014000	0.17966	0.000000	0.03702	0.791000	0.44710	-0.115000	0.10741	-0.630000	0.05567	-0.451000	0.05528	AAT		0.453	MOAP1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412685.1			29	95	0	0	0	1	0	29	95					C	93649914	T	C	93649914	3	2	98	1	0	0	0	0	1	0	0	0	9680	1493	52	4	385	4	MOAP1	14	93649914	Missense_Mutation	SNP	T	TCGA-EJ-7786-01A-11D-2114-08	46119385	93649914	13699626	36	5515											
THBS1	7057	broad.mit.edu	37	chr15	39874483	39874483	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gccgactggtgaagggccccGacccttccagcccagctttc	6	7	11	17	2	0	1	0	1	0	0	2	3	1	1	6	2	2	1	6	2	1	2	rs193286534	byFrequency	TCGA-EJ-7786-01A-11D-2114-08	TCGA-EJ-7786-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090a3fe0-0591-40bd-80fc-485baf11cc56	8d1ae986-87cd-496a-956f-5dfe60cea2e7	g.chr15:39874483G>A	ENST00000260356.5	+	3	322	c.157G>A	c.(157-159)Gac>Aac	p.D53N		NM_003246.2	NP_003237.2	P07996	TSP1_HUMAN	thrombospondin 1	53	Heparin-binding.				activation of MAPK activity (GO:0000187)|behavioral response to pain (GO:0048266)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular response to growth factor stimulus (GO:0071363)|cellular response to heat (GO:0034605)|cellular response to tumor necrosis factor (GO:0071356)|chronic inflammatory response (GO:0002544)|endocardial cushion development (GO:0003197)|engulfment of apoptotic cell (GO:0043652)|extracellular matrix organization (GO:0030198)|growth plate cartilage development (GO:0003417)|immune response (GO:0006955)|negative regulation of angiogenesis (GO:0016525)|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II (GO:0002581)|negative regulation of apoptotic process (GO:0043066)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of cGMP-mediated signaling (GO:0010754)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of dendritic cell antigen processing and presentation (GO:0002605)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of fibrinolysis (GO:0051918)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of nitric oxide mediated signal transduction (GO:0010751)|negative regulation of plasma membrane long-chain fatty acid transport (GO:0010748)|negative regulation of plasminogen activation (GO:0010757)|outflow tract morphogenesis (GO:0003151)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood coagulation (GO:0030194)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell migration (GO:0030335)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of chemotaxis (GO:0050921)|positive regulation of endothelial cell apoptotic process (GO:2000353)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of fibroblast migration (GO:0010763)|positive regulation of macrophage activation (GO:0043032)|positive regulation of macrophage chemotaxis (GO:0010759)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|positive regulation of transforming growth factor beta1 production (GO:0032914)|positive regulation of translation (GO:0045727)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|response to calcium ion (GO:0051592)|response to drug (GO:0042493)|response to endoplasmic reticulum stress (GO:0034976)|response to glucose (GO:0009749)|response to hypoxia (GO:0001666)|response to magnesium ion (GO:0032026)|response to mechanical stimulus (GO:0009612)|response to progesterone (GO:0032570)|response to testosterone (GO:0033574)|response to unfolded protein (GO:0006986)|sprouting angiogenesis (GO:0002040)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|sarcoplasmic reticulum (GO:0016529)|secretory granule (GO:0030141)	calcium ion binding (GO:0005509)|collagen V binding (GO:0070052)|fibrinogen binding (GO:0070051)|fibroblast growth factor binding (GO:0017134)|fibronectin binding (GO:0001968)|glycoprotein binding (GO:0001948)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|integrin binding (GO:0005178)|laminin binding (GO:0043236)|low-density lipoprotein particle binding (GO:0030169)|phosphatidylserine binding (GO:0001786)|proteoglycan binding (GO:0043394)|transforming growth factor beta binding (GO:0050431)			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(5)|large_intestine(15)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	53		all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223)		GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105)		GAAGGGCCCCGACCCTTCCAG	0.607													G|||	2	0.000399361	0.0015	0	5008	,	,		18505	0		0	False		,,,				2504	0					ENST00000260356.5																			0				breast(1)|central_nervous_system(3)|endometrium(8)|kidney(5)|large_intestine(15)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	53						c.(157-159)Gac>Aac		thrombospondin 1	Becaplermin(DB00102)						51	51	51					15																	39874483		2200	4297	6497	SO:0001583	missense	7057				activation of MAPK activity|anti-apoptosis|apoptosis|cell adhesion|cell cycle arrest|cell migration|cellular response to heat|chronic inflammatory response|engulfment of apoptotic cell|immune response|induction of apoptosis|negative regulation of angiogenesis|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|negative regulation of blood vessel endothelial cell migration|negative regulation of caspase activity|negative regulation of cGMP-mediated signaling|negative regulation of dendritic cell antigen processing and presentation|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of focal adhesion assembly|negative regulation of interleukin-12 production|negative regulation of nitric oxide mediated signal transduction|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of plasminogen activation|peptide cross-linking|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of fibroblast migration|positive regulation of macrophage activation|positive regulation of macrophage chemotaxis|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transforming growth factor-beta1 production|positive regulation of translation|positive regulation of tumor necrosis factor biosynthetic process|response to calcium ion|response to drug|response to glucose stimulus|response to hypoxia|response to magnesium ion|response to progesterone stimulus|sprouting angiogenesis	external side of plasma membrane|extracellular matrix|fibrinogen complex|platelet alpha granule lumen	calcium ion binding|collagen V binding|eukaryotic cell surface binding|fibrinogen binding|fibroblast growth factor 2 binding|fibronectin binding|heparin binding|identical protein binding|integrin binding|laminin binding|low-density lipoprotein particle binding|phosphatidylserine binding|proteoglycan binding|structural molecule activity|transforming growth factor beta binding	g.chr15:39874483G>A		CCDS32194.1	15q15	2009-04-08			ENSG00000137801	ENSG00000137801			11785	protein-coding gene	gene with protein product	"thrombospondin-1p180"	188060				2341158, 2335352	Standard	NM_003246		Approved	TSP1, THBS, TSP, THBS-1, TSP-1	uc001zkh.3	P07996	OTTHUMG00000133665	ENST00000260356.5:c.157G>A	15.37:g.39874483G>A	ENSP00000260356:p.Asp53Asn						p.D53N	NM_003246.2	NP_003237.2	P07996	TSP1_HUMAN		GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105)	3	322	+		all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223)	53			Heparin-binding.|TSP N-terminal.		A8K6H4|B4E3J7|B9EGH6|Q15667|Q59E99	Missense_Mutation	SNP	ENST00000260356.5	37	c.157G>A	CCDS32194.1	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	G	32	5.143731	0.94603	.	.	ENSG00000137801	ENST00000260356;ENST00000397591	T;T	0.02280	4.36;4.36	5.17	5.17	0.71159	Concanavalin A-like lectin/glucanase (1);Laminin G, thrombospondin-type, N-terminal (1);	0.000000	0.37715	N	0.001970	T	0.05731	0.0150	M	0.62266	1.93	0.58432	D	0.999995	D	0.54601	0.967	P	0.45681	0.49	T	0.19353	-1.0308	10	0.59425	D	0.04	-33.5258	17.8338	0.88690	0.0:0.0:1.0:0.0	.	53	P07996	TSP1_HUMAN	N	53	ENSP00000260356:D53N;ENSP00000380720:D53N	ENSP00000260356:D53N	D	+	1	0	THBS1	37661775	1.000000	0.71417	0.701000	0.30321	0.827000	0.46813	9.371000	0.97162	2.684000	0.91462	0.563000	0.77884	GAC		0.607	THBS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257831.2	NM_003246		3	35	0	0	0	1	0	3	35					A	39874483	G	A	39874483	3	1	98	1	0	0	0	0	1	0	0	0	15850	1058	37	2	163	2	THBS1	15	39874483	Missense_Mutation	SNP	G	TCGA-EJ-7786-01A-11D-2114-08		39874483	62656909	37	5516											
TP53BP1	7158	broad.mit.edu	37	chr15	43748185	43748186	+	Frame_Shift_Ins	INS	-	-	T																															tagctgctttgcattagccaINStttttgagtcttctgttaat																										TCGA-EJ-7786-01A-11D-2114-08	TCGA-EJ-7786-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090a3fe0-0591-40bd-80fc-485baf11cc56	8d1ae986-87cd-496a-956f-5dfe60cea2e7	g.chr15:43748185_43748186insT	ENST00000263801.3	-	12	2857_2858	c.2605_2606insA	c.(2605-2607)atgfs	p.M869fs	TP53BP1_ENST00000450115.2_Frame_Shift_Ins_p.M874fs|TP53BP1_ENST00000382039.3_Frame_Shift_Ins_p.M874fs|TP53BP1_ENST00000382044.4_Frame_Shift_Ins_p.M874fs|TP53BP1_ENST00000605155.1_5'UTR	NM_005657.2	NP_005648.1	Q12888	TP53B_HUMAN	tumor protein p53 binding protein 1	869					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|replication fork (GO:0005657)	damaged DNA binding (GO:0003684)|methylated histone binding (GO:0035064)|p53 binding (GO:0002039)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II transcription cofactor activity (GO:0001104)|telomeric DNA binding (GO:0042162)			breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3)	72		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;1.59e-06)		TGCATTAGCCATTTTTGAGTCT	0.47								Other conserved DNA damage response genes																														ENST00000263801.3																			0				breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3)	72						c.(2605-2607)ggcfs	Other conserved DNA damage response genes	tumor protein p53 binding protein 1																																				SO:0001589	frameshift_variant	7158				double-strand break repair via homologous recombination|positive regulation of transcription from RNA polymerase II promoter	condensed chromosome kinetochore|cytoplasm|nucleoplasm	p53 binding|RNA polymerase II activating transcription factor binding|RNA polymerase II transcription cofactor activity	g.chr15:43748185_43748186insT	U09477	CCDS10096.1, CCDS45250.1, CCDS45251.1	15q15-q21	2007-08-02	2007-08-02		ENSG00000067369	ENSG00000067369			11999	protein-coding gene	gene with protein product		605230	"tumor protein p53-binding protein, 1"			8016121, 9748285	Standard	NM_005657		Approved	53BP1, p202	uc001zrr.4	Q12888	OTTHUMG00000059757	ENST00000263801.3:c.2606dupA	15.37:g.43748190_43748190dupT	ENSP00000263801:p.Met869fs					TP53BP1_ENST00000450115.2_Frame_Shift_Ins_p.G874fs|TP53BP1_ENST00000382039.3_Frame_Shift_Ins_p.G874fs|TP53BP1_ENST00000382044.4_Frame_Shift_Ins_p.G874fs|TP53BP1_ENST00000605155.1_5'UTR	p.G869fs	NM_005657.2	NP_005648.1	Q12888	TP53B_HUMAN		GBM - Glioblastoma multiforme(94;1.59e-06)	12	2857_2858	-		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)	869					F8VY86|Q2M1Z7|Q4LE46|Q5FWZ3|Q7Z3U4	Frame_Shift_Ins	INS	ENST00000263801.3	37	c.2605_2606insA	CCDS10096.1																																																																																				0.47	TP53BP1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000132897.3			7	189						7	189	---	---	---	---	T	43748186	-	T	43748185	7	5	98	1	0	1	1	0	0	0	0	0	16380	217	8	0	3380	0	TP53BP1	15	43748185	Frame_Shift_Ins	INS	-	TCGA-EJ-7786-01A-11D-2114-08	3873702	43748185	58783207	38	5517											
IGDCC3	9543	broad.mit.edu	37	chr15	65622153	65622153	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgacgatgcctgtggtggaCgtctggttggcggcctcctc	4	11	15	11	3	1	1	0	1	1	0	3	3	2	2	3	5	1	1	3	5	0	1			TCGA-EJ-7786-01A-11D-2114-08	TCGA-EJ-7786-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090a3fe0-0591-40bd-80fc-485baf11cc56	8d1ae986-87cd-496a-956f-5dfe60cea2e7	g.chr15:65622153C>T	ENST00000327987.4	-	12	2159	c.1908G>A	c.(1906-1908)acG>acA	p.T636T	IGDCC3_ENST00000559231.1_5'Flank	NM_004884.3	NP_004875.2	Q8IVU1	IGDC3_HUMAN	immunoglobulin superfamily, DCC subclass, member 3	636					neuromuscular process controlling balance (GO:0050885)	integral component of plasma membrane (GO:0005887)				breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(9)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						CTGTGGTGGACGTCTGGTTGG	0.617																																						ENST00000327987.4																			0				breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(9)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						c.(1906-1908)acG>acA		immunoglobulin superfamily, DCC subclass, member 3							114	68	84					15																	65622153		2201	4299	6500	SO:0001819	synonymous_variant	9543							g.chr15:65622153C>T	AF063936	CCDS10205.1	15q22.3-q23	2013-02-11	2009-01-08	2009-01-08	ENSG00000174498	ENSG00000174498		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	9700	protein-coding gene	gene with protein product		604184	"putative neuronal cell adhesion molecule"	PUNC		9922388	Standard	NM_004884		Approved	HsT18880	uc002aos.2	Q8IVU1	OTTHUMG00000133137	ENST00000327987.4:c.1908G>A	15.37:g.65622153C>T							p.T636T	NM_004884.3	NP_004875.2	Q8IVU1	IGDC3_HUMAN			12	2159	-			636					O95215	Silent	SNP	ENST00000327987.4	37	c.1908G>A	CCDS10205.1																																																																																				0.617	IGDCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256826.1	NM_004884		4	74	0	0	0	1	0	4	74					T	65622153	C	T	65622153	2	4	98	1	0	0	0	0	0	0	0	1	7568	523	19	1		1	IGDCC3	15	65622153	Silent	SNP	C	TCGA-EJ-7786-01A-11D-2114-08	21873968	65622153	36909239	39	5518											
BNC1	646	broad.mit.edu	37	chr15	83926322	83926322	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tttgcatttgtggagctgccGgaggtgcacagttttgtagt	6	15	14	6	1	0	0	0	0	0	0	0	2	0	2	1	3	4	5	1	3	1	5	rs138921537		TCGA-EJ-7786-01A-11D-2114-08	TCGA-EJ-7786-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090a3fe0-0591-40bd-80fc-485baf11cc56	8d1ae986-87cd-496a-956f-5dfe60cea2e7	g.chr15:83926322G>A	ENST00000345382.2	-	5	2942	c.2857C>T	c.(2857-2859)Cgg>Tgg	p.R953W	RP11-382A20.4_ENST00000565495.1_RNA|BNC1_ENST00000569704.1_Missense_Mutation_p.R946W	NM_001717.3	NP_001708.3	Q01954	BNC1_HUMAN	basonuclin 1	953					chromosome organization (GO:0051276)|epidermis development (GO:0008544)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|regulation of transcription from RNA polymerase I promoter (GO:0006356)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	56						TGGAGCTGCCGGAGGTGCACA	0.507																																						ENST00000345382.2																			0				NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	56						c.(2857-2859)Cgg>Tgg		basonuclin 1		G	TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	130	131	131		2857	5.9	1	15	dbSNP_134	131	0,8600		0,0,4300	no	missense	BNC1	NM_001717.3	101	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	953/995	83926322	1,13005	2203	4300	6503	SO:0001583	missense	646				epidermis development|positive regulation of cell proliferation	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr15:83926322G>A	L03427	CCDS10324.1, CCDS73771.1	15q25.1	2013-05-20	2004-04-30	2004-05-04	ENSG00000169594	ENSG00000169594		"Zinc fingers, C2H2-type"	1081	protein-coding gene	gene with protein product		601930	"basonuclin"	BNC		1332044	Standard	NM_001717		Approved	HsT19447	uc002bjt.1	Q01954	OTTHUMG00000147362	ENST00000345382.2:c.2857C>T	15.37:g.83926322G>A	ENSP00000307041:p.Arg953Trp					RP11-382A20.4_ENST00000565495.1_RNA|BNC1_ENST00000569704.1_Missense_Mutation_p.R946W	p.R953W	NM_001717.3	NP_001708.3	Q01954	BNC1_HUMAN			5	2942	-			953					Q15840	Missense_Mutation	SNP	ENST00000345382.2	37	c.2857C>T	CCDS10324.1	.	.	.	.	.	.	.	.	.	.	G	32	5.191175	0.94923	2.27E-4	0.0	ENSG00000169594	ENST00000345382;ENST00000541809	T	0.54675	0.56	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	T	0.73426	0.3585	M	0.66939	2.045	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.988	T	0.73920	-0.3830	10	0.87932	D	0	-36.1329	20.3398	0.98759	0.0:0.0:1.0:0.0	.	946;953	F5GY04;Q01954	.;BNC1_HUMAN	W	953;946	ENSP00000307041:R953W	ENSP00000307041:R953W	R	-	1	2	BNC1	81717326	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.863000	0.87023	2.811000	0.96726	0.557000	0.71058	CGG		0.507	BNC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000304006.1	NM_001717		4	71	0	0	0	1	0	4	71					A	83926322	G	A	83926322	3	1	98	1	0	0	0	0	1	0	0	0	1474	1115	39	2	131	2	BNC1	15	83926322	Missense_Mutation	SNP	G	TCGA-EJ-7786-01A-11D-2114-08	18304169	83926322	18605070	40	5519											
CHD2	1106	broad.mit.edu	37	chr15	93485179	93485179	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagattcaagactgggaaagAaaggaggtatgtgtatttgg	14	11	14	2	0	1	3	1	0	0	3	1	5	1	5	0	4	0	2	0	4	6	5			TCGA-EJ-7786-01A-11D-2114-08	TCGA-EJ-7786-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090a3fe0-0591-40bd-80fc-485baf11cc56	8d1ae986-87cd-496a-956f-5dfe60cea2e7	g.chr15:93485179A>G	ENST00000394196.4	+	8	1888	c.820A>G	c.(820-822)Aaa>Gaa	p.K274E	CHD2_ENST00000536619.1_Missense_Mutation_p.K287E|CHD2_ENST00000557381.1_Missense_Mutation_p.K274E|CHD2_ENST00000420239.2_Missense_Mutation_p.K274E	NM_001271.3	NP_001262.3	O14647	CHD2_HUMAN	chromodomain helicase DNA binding protein 2	274	Chromo 1. {ECO:0000255|PROSITE- ProRule:PRU00053}.				cellular response to DNA damage stimulus (GO:0006974)|chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|hematopoietic stem cell differentiation (GO:0060218)|muscle organ development (GO:0007517)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|histone binding (GO:0042393)|poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	47	Lung NSC(78;0.00976)|all_lung(78;0.016)		BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)			ACTGGGAAAGAAAGGAGGTAT	0.328																																						ENST00000394196.4																			0				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	47						c.(820-822)Aaa>Gaa		chromodomain helicase DNA binding protein 2							105	107	107					15																	93485179		2197	4298	6495	SO:0001583	missense	1106				regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding	g.chr15:93485179A>G	AF006514	CCDS10374.2, CCDS45356.1	15q26	2008-07-18			ENSG00000173575	ENSG00000173575			1917	protein-coding gene	gene with protein product		602119				9326634	Standard	NM_001042572		Approved	FLJ38614, DKFZp547I1315, DKFZp781D1727, DKFZp686E01200	uc002bsp.3	O14647	OTTHUMG00000149845	ENST00000394196.4:c.820A>G	15.37:g.93485179A>G	ENSP00000377747:p.Lys274Glu					CHD2_ENST00000557381.1_Missense_Mutation_p.K274E|CHD2_ENST00000536619.1_Missense_Mutation_p.K287E|CHD2_ENST00000420239.2_Missense_Mutation_p.K274E	p.K274E	NM_001271.3	NP_001262.3	O14647	CHD2_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)		8	1888	+	Lung NSC(78;0.00976)|all_lung(78;0.016)		274			Chromo 1.		C6G482|Q96IP5	Missense_Mutation	SNP	ENST00000394196.4	37	c.820A>G	CCDS10374.2	.	.	.	.	.	.	.	.	.	.	A	27.5	4.836954	0.91117	.	.	ENSG00000173575	ENST00000394196;ENST00000557381;ENST00000420239;ENST00000536619	T;T;T;T	0.72394	-0.65;-0.65;-0.65;-0.65	5.37	5.37	0.77165	Chromo domain (1);Chromo domain-like (1);Chromo domain/shadow (2);	0.000000	0.36268	U	0.002681	D	0.82508	0.5052	M	0.74881	2.28	0.58432	D	0.999999	D;D;P;D	0.69078	0.976;0.988;0.939;0.997	P;D;P;D	0.79108	0.878;0.973;0.506;0.992	T	0.80830	-0.1207	10	0.25751	T	0.34	-22.7353	15.384	0.74681	1.0:0.0:0.0:0.0	.	287;274;274;274	B7Z3I4;O14647;O14647-2;Q6AI05	.;CHD2_HUMAN;.;.	E	274;274;274;287	ENSP00000377747:K274E;ENSP00000451366:K274E;ENSP00000406581:K274E;ENSP00000443618:K287E	ENSP00000311700:K27E	K	+	1	0	CHD2	91286183	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	8.624000	0.90961	2.033000	0.60031	0.528000	0.53228	AAA		0.328	CHD2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000313528.3	NM_001271		3	97	0	0	0	1	0	3	97					G	93485179	A	G	93485179	3	3	98	1	0	0	0	0	1	0	0	0	3325	247	9	4	846	4	CHD2	15	93485179	Missense_Mutation	SNP	A	TCGA-EJ-7786-01A-11D-2114-08	9558857	93485179	9046213	41	5520											
PARD6A	50855	broad.mit.edu	37	chr16	67694962	67694962	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atggcccggccgcagaggacTccggcgcgcagtcccgatag	7	4	15	15	6	0	1	0	0	0	1	2	3	2	2	4	4	0	2	4	4	1	1			TCGA-EJ-7786-01A-11D-2114-08	TCGA-EJ-7786-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090a3fe0-0591-40bd-80fc-485baf11cc56	8d1ae986-87cd-496a-956f-5dfe60cea2e7	g.chr16:67694962T>C	ENST00000219255.3	+	1	101	c.21T>C	c.(19-21)acT>acC	p.T7T	ACD_ENST00000393919.4_5'Flank|ACD_ENST00000219251.8_5'Flank|PARD6A_ENST00000458121.2_Silent_p.T7T|ENKD1_ENST00000602409.1_5'Flank|PARD6A_ENST00000602551.1_Silent_p.T7T			Q9NPB6	PAR6A_HUMAN	par-6 family cell polarity regulator alpha	7	Interaction with PRKCI and PRKCZ.				cell cycle (GO:0007049)|cell division (GO:0051301)|cell junction assembly (GO:0034329)|cell-cell junction maintenance (GO:0045217)|cell-cell junction organization (GO:0045216)|tight junction assembly (GO:0070830)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	apical part of cell (GO:0045177)|cell cortex (GO:0005938)|cell projection (GO:0042995)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|tight junction (GO:0005923)	GTP-dependent protein binding (GO:0030742)|Rho GTPase binding (GO:0017048)|transcription factor binding (GO:0008134)			central_nervous_system(1)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(2)	6		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.047)|all cancers(182;0.228)		CGCAGAGGACTCCGGCGCGCA	0.751																																						ENST00000458121.2																			0				central_nervous_system(1)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(2)	6						c.(19-21)acT>acC		par-6 family cell polarity regulator alpha							30	37	34					16																	67694962		2195	4298	6493	SO:0001819	synonymous_variant	50855				cell cycle|cell division|cell-cell junction maintenance|tight junction assembly|viral reproduction	cytosol|nucleus|ruffle|tight junction	GTP-dependent protein binding|Rho GTPase binding|transcription factor binding	g.chr16:67694962T>C		CCDS10843.1, CCDS45514.1	16q22.1-q22.3	2013-08-28	2013-08-28		ENSG00000102981	ENSG00000102981			15943	protein-coding gene	gene with protein product		607484	"par-6 (partitioning defective 6, C.elegans) homolog alpha", "par-6 partitioning defective 6 homolog alpha (C. elegans)"			9482110, 11260256	Standard	XM_005255977		Approved	PAR-6, PAR-6A, TAX40, PAR6alpha, TIP-40	uc002ett.3	Q9NPB6	OTTHUMG00000137534	ENST00000219255.3:c.21T>C	16.37:g.67694962T>C						PARD6A_ENST00000602551.1_Silent_p.T7T|PARD6A_ENST00000219255.3_Silent_p.T7T	p.T7T	NM_001037281.1|NM_016948.2	NP_001032358.1|NP_058644.1	Q9NPB6	PAR6A_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.047)|all cancers(182;0.228)	1	112	+		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)	7			Interaction with PRKCI and PRKCZ.		O14911|Q9NPJ7	Silent	SNP	ENST00000219255.3	37	c.21T>C	CCDS10843.1																																																																																				0.751	PARD6A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000268863.2	NM_016948		4	49	0	0	0	1	0	4	49					C	67694962	T	C	67694962	2	2	98	1	0	0	0	0	0	0	0	1	11445	1538	54	4		4	PARD6A	16	67694962	Silent	SNP	T	TCGA-EJ-7786-01A-11D-2114-08		67694962	22659791	42	5521											
PDPR	55066	broad.mit.edu	37	chr16	70154579	70154579	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttctgtggcctatcacctcTccaaaatggggtggaaggat	9	11	11	10	0	3	0	1	0	2	0	4	2	3	2	3	5	0	0	3	5	4	2			TCGA-EJ-7786-01A-11D-2114-08	TCGA-EJ-7786-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090a3fe0-0591-40bd-80fc-485baf11cc56	8d1ae986-87cd-496a-956f-5dfe60cea2e7	g.chr16:70154579T>G	ENST00000288050.4	+	3	1141	c.184T>G	c.(184-186)Tcc>Gcc	p.S62A	PDPR_ENST00000568530.1_Missense_Mutation_p.S62A|PDPR_ENST00000398122.3_Intron	NM_017990.3	NP_060460.4	Q8NCN5	PDPR_HUMAN	pyruvate dehydrogenase phosphatase regulatory subunit	62					cellular metabolic process (GO:0044237)|glycine catabolic process (GO:0006546)|pyruvate metabolic process (GO:0006090)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|mitochondrial matrix (GO:0005759)	aminomethyltransferase activity (GO:0004047)|oxidoreductase activity (GO:0016491)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|skin(2)|stomach(3)	33				BRCA - Breast invasive adenocarcinoma(221;0.124)		CTATCACCTCTCCAAAATGGG	0.557																																						ENST00000288050.4																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|skin(2)|stomach(3)	33						c.(184-186)Tcc>Gcc		pyruvate dehydrogenase phosphatase regulatory subunit							78	75	76					16																	70154579		2028	4193	6221	SO:0001583	missense	55066				glycine catabolic process|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	aminomethyltransferase activity|oxidoreductase activity	g.chr16:70154579T>G		CCDS45520.1	16q22.1	2010-08-24			ENSG00000090857	ENSG00000090857			30264	protein-coding gene	gene with protein product						9395502	Standard	NM_017990		Approved	PDP3	uc002eyf.1	Q8NCN5		ENST00000288050.4:c.184T>G	16.37:g.70154579T>G	ENSP00000288050:p.Ser62Ala					PDPR_ENST00000568530.1_Missense_Mutation_p.S62A|PDPR_ENST00000398122.3_Intron	p.S62A	NM_017990.3	NP_060460.4	Q8NCN5	PDPR_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.124)	3	1141	+			62					A7E298|A8K8Y7|B3KSE1|Q6AI20|Q6AWC9	Missense_Mutation	SNP	ENST00000288050.4	37	c.184T>G	CCDS45520.1	.	.	.	.	.	.	.	.	.	.	T	2.660	-0.280070	0.05642	.	.	ENSG00000090857	ENST00000288050	T	0.77620	-1.11	4.13	2.99	0.34606	FAD dependent oxidoreductase (1);	0.065047	0.64402	D	0.000010	T	0.41143	0.1146	N	0.00621	-1.32	0.80722	D	1	B	0.02656	0.0	B	0.06405	0.002	T	0.47381	-0.9122	10	0.02654	T	1	.	10.2579	0.43408	0.0:0.0:0.3146:0.6853	.	62	Q8NCN5	PDPR_HUMAN	A	62	ENSP00000288050:S62A	ENSP00000288050:S62A	S	+	1	0	PDPR	68712080	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.020000	0.41010	0.525000	0.28522	0.411000	0.27672	TCC		0.557	PDPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434502.1	NM_017990		4	96	0	0	0	1	0	4	96					G	70154579	T	G	70154579	3	3	98	1	0	0	0	0	1	0	0	0	11689	1551	54	5	186	5	PDPR	16	70154579	Missense_Mutation	SNP	T	TCGA-EJ-7786-01A-11D-2114-08	2459617	70154579	20200174	43	5522											
MYH13	8735	broad.mit.edu	37	chr17	10216634	10216634	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagcaggtcacagtcgtggCgggaggactgcagggcgtgc	7	5	19	10	3	1	0	1	0	0	0	2	2	1	2	0	5	3	3	0	5	0	0	rs368423742		TCGA-EJ-7786-01A-11D-2114-08	TCGA-EJ-7786-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090a3fe0-0591-40bd-80fc-485baf11cc56	8d1ae986-87cd-496a-956f-5dfe60cea2e7	g.chr17:10216634C>T	ENST00000418404.3	-	29	4185	c.4022G>A	c.(4021-4023)cGc>cAc	p.R1341H	MYH13_ENST00000252172.4_Missense_Mutation_p.R1341H|RP11-401O9.4_ENST00000609088.1_RNA			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	1341					cellular response to starvation (GO:0009267)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)	extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						ACAGTCGTGGCGGGAGGACTG	0.572																																						ENST00000418404.3																			0				breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						c.(4021-4023)cGc>cAc		myosin, heavy chain 13, skeletal muscle		C	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	112	103	106		4022	4	1	17		106	0,8600		0,0,4300	no	missense	MYH13	NM_003802.2	29	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign	1341/1939	10216634	1,13005	2203	4300	6503	SO:0001583	missense	8735				muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr17:10216634C>T	AF075248	CCDS45613.1	17p13	2011-09-27	2006-09-29			ENSG00000006788		"Myosins / Myosin superfamily : Class II"	7571	protein-coding gene	gene with protein product	"extraocular muscle myosin heavy chain", "extraocular myosin heavy chain"	603487	"myosin, heavy polypeptide 13, skeletal muscle"			9806854	Standard	NM_003802		Approved	MyHC-eo	uc002gmk.1	Q9UKX3		ENST00000418404.3:c.4022G>A	17.37:g.10216634C>T	ENSP00000404570:p.Arg1341His					MYH13_ENST00000570743.1_Missense_Mutation_p.R1341H|MYH13_ENST00000252172.4_Missense_Mutation_p.R1341H	p.R1341H			Q9UKX3	MYH13_HUMAN			29	4185	-			1341					O95252|Q9P0U8	Missense_Mutation	SNP	ENST00000418404.3	37	c.4022G>A	CCDS45613.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.119036	0.77323	2.27E-4	0.0	ENSG00000006788	ENST00000252172	D	0.83591	-1.74	3.95	3.95	0.45737	Myosin tail (1);	.	.	.	.	D	0.89501	0.6733	M	0.92268	3.29	0.46542	D	0.999093	B	0.23854	0.092	B	0.37989	0.262	D	0.90337	0.4356	9	0.56958	D	0.05	.	16.5503	0.84471	0.0:1.0:0.0:0.0	.	1341	Q9UKX3	MYH13_HUMAN	H	1341	ENSP00000252172:R1341H	ENSP00000252172:R1341H	R	-	2	0	MYH13	10157359	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.531000	0.81973	2.202000	0.70862	0.455000	0.32223	CGC		0.572	MYH13-003	KNOWN	alternative_3_UTR|alternative_5_UTR|NMD_exception|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442255.1	NM_003802		6	126	0	0	0	1	0	6	126					T	10216634	C	T	10216634	3	4	98	1	0	0	0	0	1	0	0	0	10032	768	27	1	1842	1	MYH13	17	10216634	Missense_Mutation	SNP	C	TCGA-EJ-7786-01A-11D-2114-08		10216634	70978576	44	5523											
SLC39A6	25800	broad.mit.edu	37	chr18	33706784	33706784	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agaattattttctccatagcGgtagaaaagctgttgtagat	13	14	9	5	1	1	3	0	0	1	3	2	3	1	3	1	1	2	4	1	1	7	7	rs370311982		TCGA-EJ-7786-01A-11D-2114-08	TCGA-EJ-7786-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090a3fe0-0591-40bd-80fc-485baf11cc56	8d1ae986-87cd-496a-956f-5dfe60cea2e7	g.chr18:33706784G>T	ENST00000590986.1	-	2	476	c.187C>A	c.(187-189)Cgc>Agc	p.R63S	SLC39A6_ENST00000440549.2_Intron|SLC39A6_ENST00000269187.5_Missense_Mutation_p.R63S			Q13433	S39A6_HUMAN	solute carrier family 39 (zinc transporter), member 6	63					cellular zinc ion homeostasis (GO:0006882)|transmembrane transport (GO:0055085)|zinc ion transmembrane import (GO:0071578)|zinc ion transmembrane transport (GO:0071577)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|lamellipodium membrane (GO:0031258)|plasma membrane (GO:0005886)	zinc ion transmembrane transporter activity (GO:0005385)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(4)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	41						TCTCCATAGCGGTAGAAAAGC	0.373																																						ENST00000269187.5																			0				breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(4)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	41						c.(187-189)Cgc>Agc		solute carrier family 39 (zinc transporter), member 6							133	126	128					18																	33706784		1856	4096	5952	SO:0001583	missense	25800					integral to membrane|lamellipodium membrane	zinc ion transmembrane transporter activity	g.chr18:33706784G>T	U41060	CCDS42428.1, CCDS45854.1	18q12.2	2013-05-22				ENSG00000141424		"Solute carriers"	18607	protein-coding gene	gene with protein product		608731	"solute carrier family 39 (metal ion transporter), member 6"			12659941, 12839489	Standard	NM_012319		Approved	LIV-1	uc010dmy.3	Q13433		ENST00000590986.1:c.187C>A	18.37:g.33706784G>T	ENSP00000465915:p.Arg63Ser					SLC39A6_ENST00000590986.1_Missense_Mutation_p.R63S|SLC39A6_ENST00000440549.2_Intron	p.R63S	NM_012319.3	NP_036451.3	Q13433	S39A6_HUMAN			2	400	-			63					B4DR49|B4E224|Q8IXR3|Q96HP5	Missense_Mutation	SNP	ENST00000590986.1	37	c.187C>A	CCDS42428.1	.	.	.	.	.	.	.	.	.	.	G	19.97	3.926037	0.73327	.	.	ENSG00000141424	ENST00000269187	T	0.26223	1.75	5.41	4.51	0.55191	.	0.054691	0.64402	D	0.000002	T	0.44726	0.1307	L	0.54323	1.7	0.80722	D	1	D	0.63880	0.993	D	0.74023	0.982	T	0.37197	-0.9716	10	0.87932	D	0	-16.2112	13.3703	0.60709	0.0:0.0:0.8426:0.1574	.	63	Q13433	S39A6_HUMAN	S	63	ENSP00000269187:R63S	ENSP00000269187:R63S	R	-	1	0	SLC39A6	31960782	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	5.432000	0.66514	2.547000	0.85894	0.561000	0.74099	CGC		0.373	SLC39A6-004	NOVEL	alternative_5_UTR|not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000444136.1			3	98	1	0	1	1	1	3	98					T	33706784	G	T	33706784	3	4	98	1	0	0	0	0	1	0	0	0	14622	1116	39	5	2128	5	SLC39A6	18	33706784	Missense_Mutation	SNP	G	TCGA-EJ-7786-01A-11D-2114-08		33706784	44370464	45	5524											
FZR1	51343	broad.mit.edu	37	chr19	3527681	3527681	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cccgcaagatctccaagatcCccttcaaggtgctggacgcg	9	7	10	15	3	2	2	1	0	1	2	4	3	3	3	4	2	1	2	4	2	3	1			TCGA-EJ-7786-01A-11D-2114-08	TCGA-EJ-7786-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090a3fe0-0591-40bd-80fc-485baf11cc56	8d1ae986-87cd-496a-956f-5dfe60cea2e7	g.chr19:3527681C>G	ENST00000395095.3	+	6	523	c.523C>G	c.(523-525)Ccc>Gcc	p.P175A	FZR1_ENST00000313639.8_Intron|FZR1_ENST00000441788.2_Missense_Mutation_p.P175A	NM_001136198.1	NP_001129670.1	Q9UM11	FZR_HUMAN	fizzy/cell division cycle 20 related 1 (Drosophila)	175					activation of anaphase-promoting complex activity (GO:0051488)|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|DNA repair (GO:0006281)|G2 DNA damage checkpoint (GO:0031572)|lens fiber cell differentiation (GO:0070306)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of cell aging (GO:0090344)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of cell proliferation (GO:0008284)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of meiosis (GO:0040020)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	cytosol (GO:0005829)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				endometrium(1)|kidney(4)|liver(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(2)	13				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18)		CTCCAAGATCCCCTTCAAGGT	0.642																																						ENST00000441788.2																			0				endometrium(1)|kidney(4)|liver(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(2)	13						c.(523-525)Ccc>Gcc		fizzy/cell division cycle 20 related 1 (Drosophila)							89	73	78					19																	3527681		2200	4298	6498	SO:0001583	missense	51343				activation of anaphase-promoting complex activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|DNA repair|G2/M transition DNA damage checkpoint|mitosis|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of protein catabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle	cytosol|nucleoplasm	protein binding	g.chr19:3527681C>G	AF083810	CCDS12109.1, CCDS45916.1, CCDS45917.1	19p13.3	2013-01-10				ENSG00000105325		"WD repeat domain containing"	24824	protein-coding gene	gene with protein product		603619				9734353, 11003657	Standard	NM_016263		Approved	HCDH1, CDH1, HCDH, FZR, FZR2, KIAA1242, CDC20C	uc010dtk.2	Q9UM11		ENST00000395095.3:c.523C>G	19.37:g.3527681C>G	ENSP00000378529:p.Pro175Ala					FZR1_ENST00000395095.3_Missense_Mutation_p.P175A|FZR1_ENST00000313639.8_Intron	p.P175A	NM_016263.3	NP_057347.2	Q9UM11	FZR_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18)	7	759	+			175					O75869|Q86U66|Q96NW8|Q9UI96|Q9ULH8|Q9UM10|Q9UNQ1|Q9Y2T8	Missense_Mutation	SNP	ENST00000395095.3	37	c.523C>G	CCDS45916.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.392223	0.83011	.	.	ENSG00000105325	ENST00000441788;ENST00000395095	T;T	0.20881	2.04;2.04	5.14	5.14	0.70334	WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.47673	0.1458	M	0.79614	2.46	0.80722	D	1	D;P	0.71674	0.998;0.941	D;P	0.66979	0.948;0.788	T	0.48790	-0.9004	10	0.52906	T	0.07	-53.769	17.2027	0.86910	0.0:1.0:0.0:0.0	.	175;175	Q9UM11;Q9UM11-2	FZR_HUMAN;.	A	175	ENSP00000410369:P175A;ENSP00000378529:P175A	ENSP00000378529:P175A	P	+	1	0	FZR1	3478681	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.682000	0.61671	2.399000	0.81585	0.655000	0.94253	CCC		0.642	FZR1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000452869.2	NM_016263		4	55	0	0	0	1	0	4	55					G	3527681	C	G	3527681	3	3	98	1	0	0	0	0	1	0	0	0	6138	623	22	5	545	5	FZR1	19	3527681	Missense_Mutation	SNP	C	TCGA-EJ-7786-01A-11D-2114-08		3527681	55601302	46	5525											
EMR2	30817	broad.mit.edu	37	chr19	14877064	14877064	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gaccttcacagacggtattgTttgggccattgggggacccc	7	10	13	11	1	1	1	1	0	0	1	1	3	1	2	4	4	0	2	4	4	1	5			TCGA-EJ-7786-01A-11D-2114-08	TCGA-EJ-7786-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090a3fe0-0591-40bd-80fc-485baf11cc56	8d1ae986-87cd-496a-956f-5dfe60cea2e7	g.chr19:14877064T>A	ENST00000315576.3	-	7	1068	c.617A>T	c.(616-618)aAc>aTc	p.N206I	EMR2_ENST00000346057.1_Intron|EMR2_ENST00000594076.1_Intron|EMR2_ENST00000353876.1_Intron|EMR2_ENST00000392965.3_Missense_Mutation_p.N206I|EMR2_ENST00000353005.1_Intron|EMR2_ENST00000599423.1_5'Flank|EMR2_ENST00000392967.2_Missense_Mutation_p.N206I|EMR2_ENST00000596991.2_Missense_Mutation_p.N206I|EMR2_ENST00000594294.1_Intron|EMR2_ENST00000392964.3_Intron|EMR2_ENST00000595839.1_Intron|EMR2_ENST00000601345.1_Missense_Mutation_p.N206I	NM_013447.3	NP_038475.2	Q9UHX3	EMR2_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 2	206	EGF-like 4; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				cell adhesion (GO:0007155)|cell migration (GO:0016477)|G-protein coupled receptor signaling pathway (GO:0007186)|granulocyte chemotaxis (GO:0071621)|inflammatory response (GO:0006954)|neuropeptide signaling pathway (GO:0007218)	cell projection (GO:0042995)|integral component of membrane (GO:0016021)|leading edge membrane (GO:0031256)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|chondroitin sulfate binding (GO:0035374)|G-protein coupled receptor activity (GO:0004930)			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	48						GACGGTATTGTTTGGGCCATT	0.592																																						ENST00000315576.3																			0				breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	48						c.(616-618)aAc>aTc		egf-like module containing, mucin-like, hormone receptor-like 2							104	111	108					19																	14877064		2203	4300	6503	SO:0001583	missense	30817				cell adhesion|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr19:14877064T>A	AF114491	CCDS32935.1, CCDS59361.1	19p13.1	2014-08-08	2003-11-26			ENSG00000127507		"CD molecules", "-", "GPCR / Class B : Orphans"	3337	protein-coding gene	gene with protein product		606100	"egf-like module containing, mucin-like, hormone receptor-like sequence 2"				Standard	NM_013447		Approved	CD312	uc002mzp.2	Q9UHX3		ENST00000315576.3:c.617A>T	19.37:g.14877064T>A	ENSP00000319883:p.Asn206Ile					EMR2_ENST00000392965.3_Missense_Mutation_p.N206I|EMR2_ENST00000594076.1_Intron|EMR2_ENST00000353005.1_Intron|EMR2_ENST00000594294.1_Intron|EMR2_ENST00000353876.1_Intron|EMR2_ENST00000601345.1_Missense_Mutation_p.N206I|EMR2_ENST00000392967.2_Missense_Mutation_p.N206I|EMR2_ENST00000346057.1_Intron|EMR2_ENST00000595839.1_Intron|EMR2_ENST00000596991.2_Missense_Mutation_p.N206I|EMR2_ENST00000392964.3_Intron	p.N206I	NM_013447.2	NP_038475.2	Q9UHX3	EMR2_HUMAN			7	1068	-			206			EGF-like 4; calcium-binding (Potential).		B4DQ96|E7ESD7|E9PBR1|E9PEL6|E9PFQ5|E9PG91|Q8NG96|Q9Y4B1	Missense_Mutation	SNP	ENST00000315576.3	37	c.617A>T	CCDS32935.1	.	.	.	.	.	.	.	.	.	.	T	7.843	0.722391	0.15439	.	.	ENSG00000127507	ENST00000315576;ENST00000392967;ENST00000360222;ENST00000392965	D;D;D	0.82803	-1.65;-1.65;-1.65	2.96	-0.792	0.10925	EGF-like calcium-binding (2);	.	.	.	.	T	0.73313	0.3571	L	0.38175	1.15	0.09310	N	1	B;B;B	0.27286	0.022;0.087;0.174	B;B;B	0.33690	0.02;0.035;0.168	T	0.62440	-0.6854	9	0.49607	T	0.09	.	4.2779	0.10818	0.2005:0.0:0.4114:0.3881	.	206;206;206	E7ESD7;Q9UHX3;Q9UHX3-2	.;EMR2_HUMAN;.	I	206	ENSP00000319883:N206I;ENSP00000376694:N206I;ENSP00000376692:N206I	ENSP00000319883:N206I	N	-	2	0	EMR2	14738064	0.001000	0.12720	0.001000	0.08648	0.003000	0.03518	0.102000	0.15272	-0.234000	0.09782	-0.797000	0.03246	AAC		0.592	EMR2-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000466502.2			12	185	0	0	0	1	0	12	185					A	14877064	T	A	14877064	3	1	98	1	0	0	0	0	1	0	0	0	5105	1725	60	5	1914	5	EMR2	19	14877064	Missense_Mutation	SNP	T	TCGA-EJ-7786-01A-11D-2114-08	11349383	14877064	44251919	47	5526											
SFRS15	57466	broad.mit.edu	37	chr21	33044276	33044276	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggctgctgctgctgctgctgCtgtggttgctggggcgcctg	0	12	18	11	1	0	0	0	0	0	0	0	0	0	0	1	4	7	9	1	4	0	1			TCGA-EJ-7786-01A-11D-2114-08	TCGA-EJ-7786-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090a3fe0-0591-40bd-80fc-485baf11cc56	97074d76-15e5-4923-86f7-3beea8480bf7	g.chr21:33044276C>T	ENST00000286835.7	-	20	3262	c.2880G>A	c.(2878-2880)caG>caA	p.Q960Q	SCAF4_ENST00000434667.3_Silent_p.Q945Q|SCAF4_ENST00000399804.1_Silent_p.Q938Q	NM_020706.2	NP_065757.1	O95104	SFR15_HUMAN	SR-related CTD-associated factor 4	960	Poly-Gln.					nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(11)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						gctgctgctgctgtggttgct	0.617																																						ENST00000286835.7																			0				NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(11)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						c.(2878-2880)caG>caA		SR-related CTD-associated factor 4							51	58	56					21																	33044276		2201	4300	6501	SO:0001819	synonymous_variant	57466					nucleus	nucleotide binding|RNA binding	g.chr21:33044276C>T	AB032998	CCDS33537.1, CCDS46644.1, CCDS54482.1	21q22.1	2013-02-12	2011-01-10	2011-01-10	ENSG00000156304	ENSG00000156304		"RNA binding motif (RRM) containing"	19304	protein-coding gene	gene with protein product			"splicing factor, arginine/serine-rich 15"	SFRS15		10574461	Standard	NM_020706		Approved	KIAA1172, DKFZp434E098, SRA4	uc002ypd.2	O95104	OTTHUMG00000084903	ENST00000286835.7:c.2880G>A	21.37:g.33044276C>T						SCAF4_ENST00000434667.3_Silent_p.Q945Q|SCAF4_ENST00000399804.1_Silent_p.Q938Q	p.Q960Q	NM_020706.2	NP_065757.1	O95104	SFR15_HUMAN			20	3262	-			960			Poly-Gln.		C9JLZ0|Q0P5W8|Q6P1M5|Q8N3I8|Q9UFM1|Q9ULP8	Silent	SNP	ENST00000286835.7	37	c.2880G>A	CCDS33537.1																																																																																				0.617	SCAF4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000192659.1	XM_047889		3	87	0	0	0	1	0	3	87					T	33044276	C	T	33044276	2	4	98	1	0	0	0	0	0	0	0	1	14171	796	28	3		3	SFRS15	21	33044276	Silent	SNP	C	TCGA-EJ-7786-01A-11D-2114-08		33044276	15085619	48	5527											
ITGB2	3689	broad.mit.edu	37	chr21	46320321	46320321	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ggcgcccagcttcccgtcgcCcgcgaaatggaagccgtcat	7	6	12	16	6	1	0	1	0	0	0	3	2	2	1	4	2	2	1	4	2	2	1			TCGA-EJ-7786-01A-11D-2114-08	TCGA-EJ-7786-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090a3fe0-0591-40bd-80fc-485baf11cc56	8d1ae986-87cd-496a-956f-5dfe60cea2e7	g.chr21:46320321C>A	ENST00000397850.2	-	8	1263	c.811G>T	c.(811-813)Ggc>Tgc	p.G271C	ITGB2_ENST00000397854.3_Missense_Mutation_p.G214C|ITGB2_ENST00000355153.4_Missense_Mutation_p.G271C|ITGB2_ENST00000397857.1_Missense_Mutation_p.G271C|ITGB2_ENST00000397852.1_Missense_Mutation_p.G271C|ITGB2_ENST00000302347.5_Missense_Mutation_p.G271C			P05107	ITB2_HUMAN	integrin, beta 2 (complement component 3 receptor 3 and 4 subunit)	271	VWFA.				apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|cell-matrix adhesion (GO:0007160)|endodermal cell differentiation (GO:0035987)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|neutrophil chemotaxis (GO:0030593)|receptor clustering (GO:0043113)|regulation of cell shape (GO:0008360)|regulation of immune response (GO:0050776)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integrin alphaL-beta2 complex (GO:0034687)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|vesicle (GO:0031982)	cell adhesion molecule binding (GO:0050839)|glycoprotein binding (GO:0001948)|ICAM-3 receptor activity (GO:0030369)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)			breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(4)|skin(3)	35				Colorectal(79;0.0669)	Simvastatin(DB00641)	TTCCCGTCGCCCGCGAAATGG	0.622																																						ENST00000397850.2																			0				breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(4)|skin(3)	35						c.(811-813)Ggc>Tgc		integrin, beta 2 (complement component 3 receptor 3 and 4 subunit)	Simvastatin(DB00641)						96	83	88					21																	46320321		2203	4300	6503	SO:0001583	missense	3689				apoptosis|blood coagulation|cell-cell signaling|cell-matrix adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|multicellular organismal development|neutrophil chemotaxis|regulation of cell shape|regulation of immune response|regulation of peptidyl-tyrosine phosphorylation	integrin complex	glycoprotein binding|protein kinase binding|receptor activity	g.chr21:46320321C>A	AK222505	CCDS13716.1	21q22.3	2014-09-17	2006-03-02		ENSG00000160255	ENSG00000160255		"CD molecules", "Complement system", "Integrins"	6155	protein-coding gene	gene with protein product		600065	"integrin, beta 2 (antigen CD18 (p95), lymphocyte function-associated antigen 1; macrophage antigen 1 (mac-1) beta subunit)"	CD18, MFI7			Standard	NM_000211		Approved	LFA-1, MAC-1	uc002zgf.3	P05107	OTTHUMG00000090257	ENST00000397850.2:c.811G>T	21.37:g.46320321C>A	ENSP00000380948:p.Gly271Cys					ITGB2_ENST00000397854.3_Missense_Mutation_p.G214C|ITGB2_ENST00000355153.4_Missense_Mutation_p.G271C|ITGB2_ENST00000397852.1_Missense_Mutation_p.G271C|ITGB2_ENST00000397857.1_Missense_Mutation_p.G271C|ITGB2_ENST00000302347.5_Missense_Mutation_p.G271C	p.G271C			P05107	ITB2_HUMAN		Colorectal(79;0.0669)	8	1263	-			271			VWFA.		B3KTS8|D3DSM1|Q16418|Q53HS5|Q9UD72	Missense_Mutation	SNP	ENST00000397850.2	37	c.811G>T	CCDS13716.1	.	.	.	.	.	.	.	.	.	.	C	17.08	3.298559	0.60195	.	.	ENSG00000160255	ENST00000397852;ENST00000397857;ENST00000397854;ENST00000355153;ENST00000397850;ENST00000302347;ENST00000545414;ENST00000320216	D;D;D;D;D;D;D	0.97976	-4.64;-4.64;-4.64;-4.64;-4.64;-4.64;-4.64	4.98	4.98	0.66077	Integrin beta subunit, N-terminal (2);von Willebrand factor, type A (1);	.	.	.	.	D	0.99055	0.9676	H	0.94925	3.6	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.99267	1.0892	9	0.87932	D	0	.	15.7916	0.78369	0.0:1.0:0.0:0.0	.	214;271	A8MYE6;P05107	.;ITB2_HUMAN	C	271;271;214;271;271;271;214;262	ENSP00000380950:G271C;ENSP00000380955:G271C;ENSP00000380952:G214C;ENSP00000347279:G271C;ENSP00000380948:G271C;ENSP00000303242:G271C;ENSP00000317697:G262C	ENSP00000303242:G271C	G	-	1	0	ITGB2	45144749	1.000000	0.71417	0.135000	0.22099	0.033000	0.12548	7.143000	0.77348	2.593000	0.87608	0.655000	0.94253	GGC		0.622	ITGB2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206566.2	NM_000211		15	52	1	0	2.32078e-09	1	2.6632e-09	15	52					A	46320321	C	A	46320321	3	1	98	1	0	0	0	0	1	0	0	0	7894	623	22	5	1538	5	ITGB2	21	46320321	Missense_Mutation	SNP	C	TCGA-EJ-7786-01A-11D-2114-08	13276045	46320321	1809574	49	5528											
APOBEC3B	9582	broad.mit.edu	37	chr22	39385568	39385568	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aggtggagcgcctggacaatGgcacctgggtcctgatggac	8	7	16	10	1	0	1	0	1	0	0	1	4	1	4	3	6	1	1	3	6	1	0			TCGA-EJ-7786-01A-11D-2114-08	TCGA-EJ-7786-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090a3fe0-0591-40bd-80fc-485baf11cc56	8d1ae986-87cd-496a-956f-5dfe60cea2e7	g.chr22:39385568G>A	ENST00000333467.3	+	5	721	c.676G>A	c.(676-678)Ggc>Agc	p.G226S	APOBEC3B_ENST00000407298.3_Missense_Mutation_p.G226S|APOBEC3B-AS1_ENST00000513758.2_RNA|APOBEC3B_ENST00000402182.3_Missense_Mutation_p.G226S	NM_001270411.1|NM_004900.4	NP_001257340.1|NP_004891	Q9UH17	ABC3B_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3B	226					defense response to virus (GO:0051607)|innate immune response (GO:0045087)|metabolic process (GO:0008152)|negative regulation of transposition (GO:0010529)	nucleus (GO:0005634)	deoxycytidine deaminase activity (GO:0047844)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			cervix(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	13	Melanoma(58;0.04)					CCTGGACAATGGCACCTGGGT	0.562																																						ENST00000402182.3																			0				cervix(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	13						c.(676-678)Ggc>Agc		apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3B							73	63	66					22																	39385568		2198	4279	6477	SO:0001583	missense	9582				negative regulation of transposition		hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines|RNA binding|zinc ion binding	g.chr22:39385568G>A	AK024854	CCDS13982.1, CCDS58807.1	22q13.1-q13.2	2008-05-15			ENSG00000179750	ENSG00000179750		"Apolipoprotein B mRNA editing enzymes"	17352	protein-coding gene	gene with protein product	"phorbolin 3"	607110				11863358, 10469298	Standard	NM_004900		Approved	PHRBNL, FLJ21201	uc003awo.2	Q9UH17	OTTHUMG00000151085	ENST00000333467.3:c.676G>A	22.37:g.39385568G>A	ENSP00000327459:p.Gly226Ser					APOBEC3B_ENST00000333467.3_Missense_Mutation_p.G226S|APOBEC3B_ENST00000407298.3_Missense_Mutation_p.G226S	p.G226S			Q9UH17	ABC3B_HUMAN			5	731	+	Melanoma(58;0.04)		226					B0QYD2|O95618|Q20WL1|Q5IFJ4|Q7Z2N3|Q7Z6D6|Q9UE74	Missense_Mutation	SNP	ENST00000333467.3	37	c.676G>A	CCDS13982.1	.	.	.	.	.	.	.	.	.	.	.	12.27	1.887261	0.33348	.	.	ENSG00000179750	ENST00000407298;ENST00000402182;ENST00000333467	T;T;T	0.58797	0.31;0.31;0.31	1.92	0.886	0.19194	APOBEC-like, N-terminal (1);	.	.	.	.	T	0.44030	0.1274	L	0.46885	1.475	0.09310	N	1	B;B	0.29590	0.063;0.25	B;B	0.30646	0.118;0.068	T	0.28170	-1.0052	9	0.23302	T	0.38	.	4.2559	0.10717	0.2088:0.0:0.7912:0.0	.	226;226	B0QYD2;Q9UH17	.;ABC3B_HUMAN	S	226	ENSP00000385068:G226S;ENSP00000385060:G226S;ENSP00000327459:G226S	ENSP00000327459:G226S	G	+	1	0	APOBEC3B	37715514	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	0.065000	0.14466	0.369000	0.24510	0.449000	0.29647	GGC		0.562	APOBEC3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321233.1	NM_004900		13	28	0	0	0	1	0	13	28					A	39385568	G	A	39385568	3	1	98	1	0	0	0	0	1	0	0	0	790	1348	47	3	694	3	APOBEC3B	22	39385568	Missense_Mutation	SNP	G	TCGA-EJ-7786-01A-11D-2114-08		39385568	11918998	50	5529											
GLRA2	2742	broad.mit.edu	37	chrX	14627241	14627241	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccttttggataaatatggatGcagcccctgccagggtcgca	9	10	11	11	1	0	0	0	0	0	0	1	2	0	2	4	3	3	2	4	3	3	4			TCGA-EJ-7786-01A-11D-2114-08	TCGA-EJ-7786-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090a3fe0-0591-40bd-80fc-485baf11cc56	8d1ae986-87cd-496a-956f-5dfe60cea2e7	g.chrX:14627241G>A	ENST00000218075.4	+	7	1374	c.844G>A	c.(844-846)Gca>Aca	p.A282T	GLRA2_ENST00000355020.4_Missense_Mutation_p.A282T|GLRA2_ENST00000443437.2_Missense_Mutation_p.A193T	NM_002063.3	NP_002054.1	P23416	GLRA2_HUMAN	glycine receptor, alpha 2	282					chloride transmembrane transport (GO:1902476)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|neuropeptide signaling pathway (GO:0007218)|synapse assembly (GO:0007416)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	extracellular-glycine-gated chloride channel activity (GO:0016934)|glycine binding (GO:0016594)|transmitter-gated ion channel activity (GO:0022824)			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(22)|ovary(1)|prostate(1)|skin(2)	37	Hepatocellular(33;0.128)				Ethanol(DB00898)|Glycine(DB00145)|Lindane(DB00431)	AAATATGGATGCAGCCCCTGC	0.478																																						ENST00000218075.4																			0				breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(22)|ovary(1)|prostate(1)|skin(2)	37						c.(844-846)Gca>Aca		glycine receptor, alpha 2	Ethanol(DB00898)|Glycine(DB00145)						95	94	94					X																	14627241		2203	4300	6503	SO:0001583	missense	2742				neuropeptide signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity	g.chrX:14627241G>A		CCDS14160.1, CCDS48085.1, CCDS55371.1	Xp22.2	2012-02-07			ENSG00000101958	ENSG00000101958		"Ligand-gated ion channels / Glycine receptors"	4327	protein-coding gene	gene with protein product		305990		GLR			Standard	NM_002063		Approved		uc010nep.3	P23416	OTTHUMG00000021166	ENST00000218075.4:c.844G>A	X.37:g.14627241G>A	ENSP00000218075:p.Ala282Thr					GLRA2_ENST00000355020.4_Missense_Mutation_p.A282T|GLRA2_ENST00000443437.2_Missense_Mutation_p.A193T	p.A282T	NM_002063.3	NP_002054.1	P23416	GLRA2_HUMAN			7	1374	+	Hepatocellular(33;0.128)		282					A8K0J6|B2R6I8|B7Z4F5|J3KQ59|Q53YX7|Q6ICQ0|Q99862	Missense_Mutation	SNP	ENST00000218075.4	37	c.844G>A	CCDS14160.1	.	.	.	.	.	.	.	.	.	.	G	35	5.437736	0.96168	.	.	ENSG00000101958	ENST00000443437;ENST00000218075;ENST00000355020	D;D;D	0.89123	-2.47;-2.47;-2.47	5.64	5.64	0.86602	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.000000	0.85682	D	0.000000	D	0.95175	0.8436	M	0.84433	2.695	0.80722	D	1	D;D;D	0.71674	0.996;0.997;0.998	D;D;D	0.77004	0.967;0.989;0.983	D	0.95649	0.8705	10	0.87932	D	0	.	18.7674	0.91879	0.0:0.0:1.0:0.0	.	266;282;282	B7Z4E9;P23416;P23416-2	.;GLRA2_HUMAN;.	T	193;282;282	ENSP00000387756:A193T;ENSP00000218075:A282T;ENSP00000347123:A282T	ENSP00000218075:A282T	A	+	1	0	GLRA2	14537162	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.771000	0.98977	2.378000	0.81104	0.600000	0.82982	GCA		0.478	GLRA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055829.1			4	75	0	0	0	1	0	4	75					A	14627241	G	A	14627241	3	1	98	1	0	0	0	0	1	0	0	0	6455	1319	46	3	942	3	GLRA2	23	14627241	Missense_Mutation	SNP	G	TCGA-EJ-7786-01A-11D-2114-08		14627241	140643319	51	5530											
GRIA3	2892	broad.mit.edu	37	chrX	122616696	122616696	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	caatgtggcaggcgttttctAtatacttgtcggaggtctgg	7	14	13	7	2	2	0	0	0	2	0	3	1	2	1	0	5	1	2	0	5	4	6			TCGA-EJ-7786-01A-11D-2114-08	TCGA-EJ-7786-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090a3fe0-0591-40bd-80fc-485baf11cc56	8d1ae986-87cd-496a-956f-5dfe60cea2e7	g.chrX:122616696A>C	ENST00000371251.1	+	15	2538	c.2486A>C	c.(2485-2487)tAt>tCt	p.Y829S	GRIA3_ENST00000264357.5_Missense_Mutation_p.Y829S|GRIA3_ENST00000542149.1_3'UTR|GRIA3_ENST00000371256.5_Missense_Mutation_p.Y829S			P42263	GRIA3_HUMAN	glutamate receptor, ionotropic, AMPA 3	829					glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)			breast(2)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|pancreas(2)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	57					Lithium(DB01356)	GGCGTTTTCTATATACTTGTC	0.468																																						ENST00000264357.5																			0				breast(2)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|pancreas(2)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	57						c.(2485-2487)tAt>tCt		glutamate receptor, ionotropic, AMPA 3	L-Glutamic Acid(DB00142)						105	99	101					X																	122616696		2203	4300	6503	SO:0001583	missense	2892				glutamate signaling pathway|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity	g.chrX:122616696A>C	U10301	CCDS14604.1, CCDS14605.1, CCDS76017.1	Xq25	2012-08-29	2012-02-03		ENSG00000125675	ENSG00000125675		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4573	protein-coding gene	gene with protein product		305915	"glutamate receptor, ionotrophic, AMPA 3"	GLUR3		1319477, 10644433	Standard	NM_007325		Approved	GluA3, GLURC, MRX94	uc004etr.4	P42263	OTTHUMG00000022685	ENST00000371251.1:c.2486A>C	X.37:g.122616696A>C	ENSP00000360297:p.Tyr829Ser					GRIA3_ENST00000371251.1_Missense_Mutation_p.Y829S|GRIA3_ENST00000371256.5_Missense_Mutation_p.Y829S|GRIA3_ENST00000542149.1_3'UTR	p.Y829S	NM_000828.4	NP_000819.3	P42263	GRIA3_HUMAN			15	2778	+			829					D3DTF1|Q4VXD5|Q4VXD6|Q9HDA0|Q9HDA1|Q9HDA2|Q9P0H1	Missense_Mutation	SNP	ENST00000371251.1	37	c.2486A>C	CCDS14604.1	.	.	.	.	.	.	.	.	.	.	A	20.3	3.970733	0.74246	.	.	ENSG00000125675	ENST00000264357;ENST00000371256;ENST00000371251	T;T;T	0.55234	0.53;0.53;0.53	5.81	5.81	0.92471	Ionotropic glutamate receptor (1);	0.000000	0.85682	D	0.000000	T	0.77191	0.4094	M	0.90309	3.105	0.80722	D	1	D;D	0.69078	0.997;0.997	D;D	0.81914	0.995;0.991	T	0.82426	-0.0463	10	0.87932	D	0	.	14.1842	0.65595	1.0:0.0:0.0:0.0	.	829;829	P42263;P42263-2	GRIA3_HUMAN;.	S	829	ENSP00000264357:Y829S;ENSP00000360302:Y829S;ENSP00000360297:Y829S	ENSP00000264357:Y829S	Y	+	2	0	GRIA3	122444377	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.339000	0.96797	1.947000	0.56498	0.486000	0.48141	TAT		0.468	GRIA3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058854.1	NM_000828		9	54	0	0	0	1	0	9	54					C	122616696	A	C	122616696	3	2	98	1	0	0	0	0	1	0	0	0	6769	449	16	5	2663	5	GRIA3	23	122616696	Missense_Mutation	SNP	A	TCGA-EJ-7786-01A-11D-2114-08	107989455	122616696	32653864	52	5531											
MST4	51765	broad.mit.edu	37	chrX	131188793	131188793	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aaaatcatagaccttgaggaAgccgaagatgaaatagaaga	20	6	10	5	1	1	6	1	2	0	4	1	8	1	7	2	1	1	0	2	1	8	3			TCGA-EJ-7786-01A-11D-2114-08	TCGA-EJ-7786-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090a3fe0-0591-40bd-80fc-485baf11cc56	8d1ae986-87cd-496a-956f-5dfe60cea2e7	g.chrX:131188793A>G	ENST00000354719.6	+	3	393	c.177A>G	c.(175-177)gaA>gaG	p.E59E	MST4_ENST00000481105.1_Silent_p.E59E|MST4_ENST00000394334.2_Silent_p.E59E|MST4_ENST00000394335.2_Intron|MST4_ENST00000496850.1_Silent_p.E59E																endometrium(2)|large_intestine(2)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	23	Acute lymphoblastic leukemia(192;0.000127)					ACCTTGAGGAAGCCGAAGATG	0.373																																						ENST00000394334.2																			0				endometrium(2)|large_intestine(2)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	23						c.(175-177)gaA>gaG									78	72	74					X																	131188793		2203	4300	6503	SO:0001819	synonymous_variant	0				cellular component disassembly involved in apoptosis|regulation of apoptosis	cytosol|Golgi membrane	ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity	g.chrX:131188793A>G																												ENST00000354719.6:c.177A>G	X.37:g.131188793A>G						MST4_ENST00000481105.1_Silent_p.E59E|MST4_ENST00000496850.1_Silent_p.E59E|MST4_ENST00000354719.6_Silent_p.E59E|MST4_ENST00000394335.2_Intron	p.E59E	NM_016542.3	NP_057626.2	Q9P289	MST4_HUMAN			3	430	+	Acute lymphoblastic leukemia(192;0.000127)		59			Protein kinase.			Silent	SNP	ENST00000354719.6	37	c.177A>G																																																																																					0.373	MST4-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000058308.2			23	20	0	0	0	1	0	23	20					G	131188793	A	G	131188793	2	3	98	1	0	0	0	0	0	0	0	1	9892	69	3	4		4	MST4	23	131188793	Silent	SNP	A	TCGA-EJ-7786-01A-11D-2114-08	8572097	131188793	24081767	53	5532											
SRPK3	26576	broad.mit.edu	37	chrX	153046771	153046771	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ttctgggctccgacgacgagGaacaggaagaccccaaagac	13	4	12	12	3	1	2	0	0	1	2	2	7	2	4	3	3	1	1	3	3	3	1			TCGA-EJ-7786-01A-11D-2114-08	TCGA-EJ-7786-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090a3fe0-0591-40bd-80fc-485baf11cc56	8d1ae986-87cd-496a-956f-5dfe60cea2e7	g.chrX:153046771G>T	ENST00000370101.3	+	2	206	c.160G>T	c.(160-162)Gaa>Taa	p.E54*	SRPK3_ENST00000370108.3_Nonsense_Mutation_p.E54*|SRPK3_ENST00000489426.1_Nonsense_Mutation_p.E121*|SRPK3_ENST00000370100.1_Nonsense_Mutation_p.E12*|SRPK3_ENST00000393786.3_Nonsense_Mutation_p.E54*|SRPK3_ENST00000370104.1_Nonsense_Mutation_p.E54*	NM_001170760.1|NM_014370.3	NP_001164231.1|NP_055185.2	Q9UPE1	SRPK3_HUMAN	SRSF protein kinase 3	54					cell differentiation (GO:0030154)|muscle tissue development (GO:0060537)|skeletal muscle tissue development (GO:0007519)		ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(1)|endometrium(2)|lung(4)|ovary(2)|pancreas(2)|urinary_tract(1)	13	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)					CGACGACGAGGAACAGGAAGA	0.667																																					Esophageal Squamous(167;766 3400 32156)	ENST00000489426.1																			0				breast(1)|central_nervous_system(1)|endometrium(2)|lung(4)|ovary(2)|pancreas(2)|urinary_tract(1)	13						c.(361-363)Gaa>Taa		SRSF protein kinase 3							30	31	31					X																	153046771		2198	4294	6492	SO:0001587	stop_gained	26576				cell differentiation|muscle organ development|muscle tissue development		ATP binding|protein serine/threonine kinase activity	g.chrX:153046771G>T	AF027406	CCDS35441.1, CCDS55537.1, CCDS55538.1	Xq28	2010-06-23	2010-06-23	2006-08-17	ENSG00000184343	ENSG00000184343			11402	protein-coding gene	gene with protein product			"serine/threonine kinase 23", "SFRS protein kinase 3"	STK23		16140986	Standard	NM_014370		Approved	MSSK1	uc004fil.3	Q9UPE1	OTTHUMG00000024207	ENST00000370101.3:c.160G>T	X.37:g.153046771G>T	ENSP00000359119:p.Glu54*					SRPK3_ENST00000370104.1_Nonsense_Mutation_p.E54*|SRPK3_ENST00000370100.1_Nonsense_Mutation_p.E12*|SRPK3_ENST00000370101.3_Nonsense_Mutation_p.E54*|SRPK3_ENST00000393786.3_Nonsense_Mutation_p.E54*|SRPK3_ENST00000370108.3_Nonsense_Mutation_p.E54*	p.E121*			Q9UPE1	SRPK3_HUMAN			8	2727	+	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)		54			Protein kinase.		Q13583|Q4F970|Q562F5|Q9UM62	Nonsense_Mutation	SNP	ENST00000370101.3	37	c.361G>T	CCDS35441.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	27.7|27.7	4.859597|4.859597	0.91433|0.91433	.|.	.|.	ENSG00000184343|ENSG00000184343	ENST00000489426;ENST00000393786;ENST00000370104;ENST00000370108;ENST00000370101;ENST00000370100|ENST00000430541	.|.	.|.	.|.	4.21|4.21	4.21|4.21	0.49690|0.49690	.|.	0.000000|.	0.51477|.	D|.	0.000081|.	.|T	.|0.62417	.|0.2426	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.70450	.|-0.4868	.|3	0.87932|.	D|.	0|.	-23.636|-23.636	13.035|13.035	0.58864|0.58864	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	X|S	121;54;54;54;54;12|67	.|.	ENSP00000359118:E12X|.	E|R	+|+	1|3	0|2	SRPK3|SRPK3	152699965|152699965	1.000000|1.000000	0.71417|0.71417	0.970000|0.970000	0.41538|0.41538	0.374000|0.374000	0.29953|0.29953	5.031000|5.031000	0.64134|0.64134	1.928000|1.928000	0.55862|0.55862	0.529000|0.529000	0.55759|0.55759	GAA|AGG		0.667	SRPK3-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000354501.1	NM_014370		3	15	1	0	1	1	1	3	15					T	153046771	G	T	153046771	4	4	98	1	0	0	0	0	0	1	0	0	15160	1175	41	5	166	5	SRPK3	23	153046771	Nonsense_Mutation	SNP	G	TCGA-EJ-7786-01A-11D-2114-08	21857978	153046771	2223789	54	5533											
NPHP4	261734	broad.mit.edu	37	chr1	5964711	5964711	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccatctctgctcacaggcacGaggatgtgggtcagggcgcc	7	7	14	13	2	3	0	2	0	1	0	4	2	3	1	2	4	1	2	2	4	0	0	rs373182062		TCGA-EJ-7788-01A-11D-2114-08	TCGA-EJ-7788-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea80f854-fec4-4811-9bec-038808522568	8dc89778-02e1-41c1-9b74-554f60f86c4d	g.chr1:5964711G>A	ENST00000378156.4	-	16	2374	c.2109C>T	c.(2107-2109)ctC>ctT	p.L703L	NPHP4_ENST00000478423.2_5'UTR	NM_015102.3	NP_055917.1	O75161	NPHP4_HUMAN	nephronophthisis 4	703					actin cytoskeleton organization (GO:0030036)|hippo signaling (GO:0035329)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|retina development in camera-type eye (GO:0060041)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|visual behavior (GO:0007632)	cell-cell junction (GO:0005911)|centrosome (GO:0005813)|cytosol (GO:0005829)|membrane (GO:0016020)|nonmotile primary cilium (GO:0031513)|tight junction (GO:0005923)	structural molecule activity (GO:0005198)			NS(1)|breast(2)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(4)	47	Ovarian(185;0.0634)	all_cancers(23;7.53e-41)|all_epithelial(116;3.96e-23)|all_lung(118;5.12e-09)|all_hematologic(16;5.45e-07)|Lung NSC(185;5.49e-07)|all_neural(13;3.21e-06)|Acute lymphoblastic leukemia(12;3.44e-05)|Breast(487;0.000601)|Renal(390;0.0007)|Colorectal(325;0.00113)|Hepatocellular(190;0.00213)|Glioma(11;0.00223)|Myeloproliferative disorder(586;0.0256)|Ovarian(437;0.04)|Lung SC(97;0.128)|Medulloblastoma(700;0.213)		Epithelial(90;1.69e-36)|GBM - Glioblastoma multiforme(13;5.07e-29)|OV - Ovarian serous cystadenocarcinoma(86;1.05e-19)|Colorectal(212;4.54e-07)|COAD - Colon adenocarcinoma(227;3.14e-05)|Kidney(185;0.00012)|BRCA - Breast invasive adenocarcinoma(365;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00179)|STAD - Stomach adenocarcinoma(132;0.00472)|READ - Rectum adenocarcinoma(331;0.0649)		TCACAGGCACGAGGATGTGGG	0.572																																						ENST00000378156.4																			0				NS(1)|breast(2)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(4)	47						c.(2107-2109)ctC>ctT		nephronophthisis 4		G		3,4173		0,3,2085	53	55	54		2109	-7.4	0	1		54	0,8456		0,0,4228	no	coding-synonymous	NPHP4	NM_015102.3		0,3,6313	AA,AG,GG		0.0,0.0718,0.0237		703/1427	5964711	3,12629	2088	4228	6316	SO:0001819	synonymous_variant	261734				actin cytoskeleton organization|cell-cell adhesion|signal transduction|visual behavior	cell-cell junction|centrosome|cilium|microtubule basal body	protein binding|structural molecule activity	g.chr1:5964711G>A	AB014573	CCDS44052.1	1p36	2010-03-26			ENSG00000131697	ENSG00000131697			19104	protein-coding gene	gene with protein product	"nephroretinin", "nephrocystin-4", "POC10 centriolar protein homolog (Chlamydomonas)"	607215				11920287, 12205563	Standard	XR_244787		Approved	SLSN4, KIAA0673, POC10	uc001alq.2	O75161	OTTHUMG00000000701	ENST00000378156.4:c.2109C>T	1.37:g.5964711G>A						NPHP4_ENST00000478423.2_5'UTR	p.L703L	NM_015102.3	NP_055917.1	O75161	NPHP4_HUMAN		Epithelial(90;1.69e-36)|GBM - Glioblastoma multiforme(13;5.07e-29)|OV - Ovarian serous cystadenocarcinoma(86;1.05e-19)|Colorectal(212;4.54e-07)|COAD - Colon adenocarcinoma(227;3.14e-05)|Kidney(185;0.00012)|BRCA - Breast invasive adenocarcinoma(365;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00179)|STAD - Stomach adenocarcinoma(132;0.00472)|READ - Rectum adenocarcinoma(331;0.0649)	16	2374	-	Ovarian(185;0.0634)	all_cancers(23;7.53e-41)|all_epithelial(116;3.96e-23)|all_lung(118;5.12e-09)|all_hematologic(16;5.45e-07)|Lung NSC(185;5.49e-07)|all_neural(13;3.21e-06)|Acute lymphoblastic leukemia(12;3.44e-05)|Breast(487;0.000601)|Renal(390;0.0007)|Colorectal(325;0.00113)|Hepatocellular(190;0.00213)|Glioma(11;0.00223)|Myeloproliferative disorder(586;0.0256)|Ovarian(437;0.04)|Lung SC(97;0.128)|Medulloblastoma(700;0.213)	703					Q8IWC0	Silent	SNP	ENST00000378156.4	37	c.2109C>T	CCDS44052.1																																																																																				0.572	NPHP4-001	KNOWN	non_canonical_polymorphism|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001715.2			22	43	0	0	0	0.706142	0	22	43					A	5964711	G	A	5964711	2	1	99	1	0	0	0	0	0	0	0	1	10581	1045	37	2		2	NPHP4	1	5964711	Silent	SNP	G	TCGA-EJ-7788-01A-11D-2114-08		5964711	243285910	1	5534											
CFH	3075	broad.mit.edu	37	chr1	196684882	196684882	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggttacaatggttggtctgAtttacccatatgttatggta	9	17	10	5	0	1	1	0	1	1	0	1	1	1	1	1	4	2	4	1	4	6	7			TCGA-EJ-7788-01A-11D-2114-08	TCGA-EJ-7788-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea80f854-fec4-4811-9bec-038808522568	8dc89778-02e1-41c1-9b74-554f60f86c4d	g.chr1:196684882A>G	ENST00000367429.4	+	11	1919	c.1679A>G	c.(1678-1680)gAt>gGt	p.D560G		NM_000186.3	NP_000177.2	P08603	CFAH_HUMAN	complement factor H	560	Sushi 9. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	heparan sulfate proteoglycan binding (GO:0043395)|heparin binding (GO:0008201)			NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						GGTTGGTCTGATTTACCCATA	0.328																																						ENST00000367429.4																			0				NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						c.(1678-1680)gAt>gGt		complement factor H							237	224	229					1																	196684882		2203	4300	6503	SO:0001583	missense	3075				complement activation, alternative pathway	extracellular space		g.chr1:196684882A>G	Y00716	CCDS1385.1	1q32	2014-09-17	2004-08-09	2004-08-12	ENSG00000000971	ENSG00000000971		"Complement system"	4883	protein-coding gene	gene with protein product	"beta-1H", "H factor 2 (complement)", "age-related maculopathy susceptibility 1"	134370	"H factor 1 (complement)"	HF, HF1, HF2		2889480, 2963625	Standard	NM_000186		Approved	HUS, FHL1, ARMS1, ARMD4	uc001gtj.4	P08603	OTTHUMG00000035607	ENST00000367429.4:c.1679A>G	1.37:g.196684882A>G	ENSP00000356399:p.Asp560Gly						p.D560G	NM_000186.3	NP_000177.2	P08603	CFAH_HUMAN			11	1919	+			560			Sushi 9.		A5PL14|P78435|Q14570|Q2TAZ5|Q38G77|Q5TFM3|Q8N708|Q9NU86	Missense_Mutation	SNP	ENST00000367429.4	37	c.1679A>G	CCDS1385.1	.	.	.	.	.	.	.	.	.	.	A	9.847	1.192566	0.21954	.	.	ENSG00000000971	ENST00000367429	T	0.61980	0.06	5.42	1.36	0.22044	Complement control module (2);Sushi/SCR/CCP (3);	.	.	.	.	T	0.50292	0.1607	M	0.63169	1.94	0.09310	N	1	B	0.12013	0.005	B	0.17433	0.018	T	0.39941	-0.9589	9	0.07325	T	0.83	.	5.5249	0.16953	0.6634:0.1586:0.1781:0.0	.	560	P08603	CFAH_HUMAN	G	560	ENSP00000356399:D560G	ENSP00000356399:D560G	D	+	2	0	CFH	194951505	0.000000	0.05858	0.002000	0.10522	0.058000	0.15608	0.232000	0.17891	0.336000	0.23639	0.533000	0.62120	GAT		0.328	CFH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086412.2	NM_000186		15	137	0	0	0	0.539581	0	15	137					G	196684882	A	G	196684882	3	3	99	1	0	0	0	0	1	0	0	0	3283	333	12	4	1739	4	CFH	1	196684882	Missense_Mutation	SNP	A	TCGA-EJ-7788-01A-11D-2114-08	190720171	196684882	52565739	2	5535											
MEMO1	51072	broad.mit.edu	37	chr2	32145945	32145945	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcacatcgagagaggggcaCatgatgagaaggcccaagga	14	4	15	8	1	0	3	0	2	0	2	1	7	0	4	1	4	1	2	1	4	2	0			TCGA-EJ-7788-01A-11D-2114-08	TCGA-EJ-7788-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea80f854-fec4-4811-9bec-038808522568	8dc89778-02e1-41c1-9b74-554f60f86c4d	g.chr2:32145945C>A	ENST00000295065.5	-	4	556	c.247G>T	c.(247-249)Gtg>Ttg	p.V83L	MEMO1_ENST00000426310.2_Missense_Mutation_p.V60L|AL121652.1_ENST00000408399.1_RNA|DPY30_ENST00000446765.1_5'UTR|MEMO1_ENST00000490459.1_5'UTR|MEMO1_ENST00000379383.3_Missense_Mutation_p.V86L|MEMO1_ENST00000404530.1_Missense_Mutation_p.V83L	NM_015955.2	NP_057039.1	Q9Y316	MEMO1_HUMAN	mediator of cell motility 1	83					regulation of microtubule-based process (GO:0032886)	cytosol (GO:0005829)|nucleus (GO:0005634)				NS(1)|breast(1)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)|skin(2)	17	Acute lymphoblastic leukemia(172;0.155)					GAGAGGGGCACATGATGAGAA	0.373																																						ENST00000295065.4																			0				NS(1)|breast(1)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)|skin(2)	17						c.(247-249)Gtg>Ttg		mediator of cell motility 1							86	91	89					2																	32145945		2203	4300	6503	SO:0001583	missense	51072				regulation of microtubule-based process	cytosol|nucleus		g.chr2:32145945C>A	AF132961	CCDS1776.1, CCDS46255.1	2p22-p21	2010-05-24	2007-02-12	2007-02-12	ENSG00000162959	ENSG00000162959			14014	protein-coding gene	gene with protein product		611786	"chromosome 2 open reading frame 4"	C2orf4		15156151	Standard	NM_015955		Approved	CGI-27, MEMO	uc002rnx.3	Q9Y316	OTTHUMG00000128453	ENST00000295065.5:c.247G>T	2.37:g.32145945C>A	ENSP00000295065:p.Val83Leu					MEMO1_ENST00000490459.1_5'UTR|DPY30_ENST00000446765.1_5'UTR|MEMO1_ENST00000426310.2_Missense_Mutation_p.V60L|MEMO1_ENST00000404530.1_Missense_Mutation_p.V83L|MEMO1_ENST00000379383.3_Missense_Mutation_p.V86L	p.V83L	NM_015955.2	NP_057039.1	Q9Y316	MEMO1_HUMAN			4	556	-	Acute lymphoblastic leukemia(172;0.155)		83					B4DLS0|D6W575|Q5R2V8|Q5R2V9|Q6NSL5	Missense_Mutation	SNP	ENST00000295065.5	37	c.247G>T	CCDS1776.1	.	.	.	.	.	.	.	.	.	.	C	20.1	3.933464	0.73442	.	.	ENSG00000162959	ENST00000295065;ENST00000379383;ENST00000404530;ENST00000426310	.	.	.	5.75	5.75	0.90469	.	0.000000	0.85682	D	0.000000	T	0.65954	0.2741	L	0.52823	1.66	0.80722	D	1	B;B	0.09022	0.002;0.0	B;B	0.17979	0.02;0.001	T	0.59783	-0.7389	9	0.41790	T	0.15	-1.1744	19.5476	0.95305	0.0:1.0:0.0:0.0	.	60;83	Q9Y316-2;Q9Y316	.;MEMO1_HUMAN	L	83;86;83;60	.	ENSP00000295065:V83L	V	-	1	0	MEMO1	31999449	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.587000	0.82613	2.719000	0.93026	0.655000	0.94253	GTG		0.373	MEMO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250251.2	NM_015955		31	69	1	0	1.90571e-15	0.796494	2.29999e-15	31	69					A	32145945	C	A	32145945	3	1	99	1	0	0	0	0	1	0	0	0	9471	478	17	5	670	5	MEMO1	2	32145945	Missense_Mutation	SNP	C	TCGA-EJ-7788-01A-11D-2114-08		32145945	211053428	3	5536											
HEATR5B	54497	broad.mit.edu	37	chr2	37280709	37280709	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cctgctggcggacacctttaGcttgtttaacacattcagca	9	12	8	12	1	1	0	1	0	0	0	1	1	1	1	2	2	4	4	2	2	2	6			TCGA-EJ-7788-01A-11D-2114-08	TCGA-EJ-7788-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea80f854-fec4-4811-9bec-038808522568	8dc89778-02e1-41c1-9b74-554f60f86c4d	g.chr2:37280709G>A	ENST00000233099.5	-	17	2536	c.2441C>T	c.(2440-2442)gCt>gTt	p.A814V	HEATR5B_ENST00000354531.2_Missense_Mutation_p.A814V	NM_019024.1	NP_061897.1	Q9P2D3	HTR5B_HUMAN	HEAT repeat containing 5B	814						extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)				breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	77		all_hematologic(82;0.21)				GACACCTTTAGCTTGTTTAAC	0.318																																						ENST00000233099.5																			0				breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	77						c.(2440-2442)gCt>gTt		HEAT repeat containing 5B							56	57	57					2																	37280709		2203	4300	6503	SO:0001583	missense	54497						binding	g.chr2:37280709G>A	AB037835	CCDS33181.1	2p22.2	2007-01-02			ENSG00000008869	ENSG00000008869			29273	protein-coding gene	gene with protein product						10718198	Standard	XM_005264379		Approved	KIAA1414, DKFZp686P15184	uc002rpp.1	Q9P2D3	OTTHUMG00000152158	ENST00000233099.5:c.2441C>T	2.37:g.37280709G>A	ENSP00000233099:p.Ala814Val					HEATR5B_ENST00000354531.2_Missense_Mutation_p.A814V	p.A814V	NM_019024.1	NP_061897.1	Q9P2D3	HTR5B_HUMAN			17	2536	-		all_hematologic(82;0.21)	814					B5MDU8|Q7Z3B2|Q9NVL7	Missense_Mutation	SNP	ENST00000233099.5	37	c.2441C>T	CCDS33181.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.042567	0.75732	.	.	ENSG00000008869	ENST00000233099;ENST00000354531	T;T	0.65732	-0.17;-0.17	5.85	5.85	0.93711	Armadillo-type fold (1);	0.045203	0.85682	D	0.000000	T	0.55417	0.1919	L	0.39898	1.24	0.80722	D	1	B	0.32338	0.365	B	0.28465	0.09	T	0.50311	-0.8843	10	0.27785	T	0.31	-12.931	20.1736	0.98170	0.0:0.0:1.0:0.0	.	814	Q9P2D3	HTR5B_HUMAN	V	814	ENSP00000233099:A814V;ENSP00000346531:A814V	ENSP00000233099:A814V	A	-	2	0	HEATR5B	37134213	1.000000	0.71417	1.000000	0.80357	0.892000	0.51952	9.808000	0.99193	2.767000	0.95098	0.557000	0.71058	GCT		0.318	HEATR5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325492.1	NM_019024		12	36	0	0	0	0.457914	0	12	36					A	37280709	G	A	37280709	3	1	99	1	0	0	0	0	1	0	0	0	7032	971	34	3	3854	3	HEATR5B	2	37280709	Missense_Mutation	SNP	G	TCGA-EJ-7788-01A-11D-2114-08	5134764	37280709	205918664	4	5537											
AAK1	22848	broad.mit.edu	37	chr2	69741780	69741780	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgttgctgctgctgctgctgCtggtagaaattctgcattag	6	15	12	8	0	1	1	0	0	1	1	1	1	1	1	0	1	7	9	0	1	3	4			TCGA-EJ-7788-01A-11D-2114-08	TCGA-EJ-7788-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea80f854-fec4-4811-9bec-038808522568	8dc89778-02e1-41c1-9b74-554f60f86c4d	g.chr2:69741780C>G	ENST00000409085.4	-	13	1975	c.1599G>C	c.(1597-1599)caG>caC	p.Q533H	RN7SL604P_ENST00000492589.2_RNA|AAK1_ENST00000409068.1_Missense_Mutation_p.Q533H|AAK1_ENST00000406297.3_Missense_Mutation_p.Q533H	NM_014911.3	NP_055726	Q2M2I8	AAK1_HUMAN	AP2 associated kinase 1	533	Gln-rich.		Q -> H. {ECO:0000269|PubMed:17344846}.		endocytosis (GO:0006897)|positive regulation of Notch signaling pathway (GO:0045747)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)|regulation of clathrin-mediated endocytosis (GO:2000369)|regulation of protein localization (GO:0032880)	cell leading edge (GO:0031252)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|extrinsic component of plasma membrane (GO:0019897)|terminal bouton (GO:0043195)	AP-2 adaptor complex binding (GO:0035612)|ATP binding (GO:0005524)|Notch binding (GO:0005112)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)	17						gctgctgctgctgGTAGAAAT	0.532																																						ENST00000409085.4																			0				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)	17						c.(1597-1599)caG>caC		AP2 associated kinase 1							38	40	39					2																	69741780		2200	4298	6498	SO:0001583	missense	22848					coated pit|mitochondrion|plasma membrane	ATP binding|protein serine/threonine kinase activity	g.chr2:69741780C>G	AB028971	CCDS1893.2	2p13.3	2012-07-10			ENSG00000115977	ENSG00000115977			19679	protein-coding gene	gene with protein product						11877461, 12471243	Standard	NM_014911		Approved	KIAA1048, DKFZp686K16132	uc002sfp.2	Q2M2I8	OTTHUMG00000129648	ENST00000409085.4:c.1599G>C	2.37:g.69741780C>G	ENSP00000386456:p.Gln533His					AAK1_ENST00000409068.1_Missense_Mutation_p.Q533H|AAK1_ENST00000406297.3_Missense_Mutation_p.Q533H	p.Q533H	NM_014911.3	NP_055726.3	Q2M2I8	AAK1_HUMAN			13	1975	-			533		Q -> H.	Gln-rich.		Q4ZFZ3|Q53RX6|Q9UPV4	Missense_Mutation	SNP	ENST00000409085.4	37	c.1599G>C	CCDS1893.2	.	.	.	.	.	.	.	.	.	.	C	8.018	0.758927	0.15846	.	.	ENSG00000115977	ENST00000409068;ENST00000409085;ENST00000406297	T;T;T	0.78003	1.57;-1.13;-1.14	4.89	3.07	0.35406	.	0.854162	0.10089	N	0.717362	T	0.57725	0.2073	N	0.14661	0.345	0.25395	N	0.988498	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.0;0.001;0.0	T	0.41610	-0.9499	10	0.11794	T	0.64	0.4343	6.749	0.23477	0.0:0.7262:0.1782:0.0957	.	533;533;533	B7ZLC4;Q2M2I8-2;Q2M2I8	.;.;AAK1_HUMAN	H	533	ENSP00000386342:Q533H;ENSP00000386456:Q533H;ENSP00000385181:Q533H	ENSP00000385181:Q533H	Q	-	3	2	AAK1	69595284	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	0.245000	0.18142	0.670000	0.31165	0.447000	0.29281	CAG		0.532	AAK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251847.4	NM_014911		3	31	0	0	0	0.115264	0	3	31					G	69741780	C	G	69741780	3	3	99	1	0	0	0	0	1	0	0	0	16	796	28	5	1326	5	AAK1	2	69741780	Missense_Mutation	SNP	C	TCGA-EJ-7788-01A-11D-2114-08	32461071	69741780	173457593	5	5538											
DNAH1	25981	broad.mit.edu	37	chr3	52430809	52430809	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cgaatatgatgacatcccctAcaaggtgggcctggggcaga	11	7	13	10	1	0	3	0	2	0	1	1	4	1	3	3	4	1	1	3	4	4	2			TCGA-EJ-7788-01A-11D-2114-08	TCGA-EJ-7788-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea80f854-fec4-4811-9bec-038808522568	8dc89778-02e1-41c1-9b74-554f60f86c4d	g.chr3:52430809A>T	ENST00000420323.2	+	72	11867	c.11606A>T	c.(11605-11607)tAc>tTc	p.Y3869F		NM_015512.4	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	3934	AAA 6. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|response to mechanical stimulus (GO:0009612)	axonemal dynein complex (GO:0005858)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		GACATCCCCTACAAGGTGGGC	0.597																																						ENST00000420323.2																			0				cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62						c.(11605-11607)tAc>tTc		dynein, axonemal, heavy chain 1							134	137	136					3																	52430809		1944	4134	6078	SO:0001583	missense	25981				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr3:52430809A>T	U61738	CCDS46842.1	3p21-p14	2008-02-05	2006-09-04		ENSG00000114841	ENSG00000114841		"Axonemal dyneins"	2940	protein-coding gene	gene with protein product		603332	"dynein, axonemal, heavy polypeptide 1"			8812413, 9256245	Standard	NM_015512		Approved	XLHSRF-1, DNAHC1, HDHC7, HL-11, HL11	uc011bef.2	Q9P2D7	OTTHUMG00000158378	ENST00000420323.2:c.11606A>T	3.37:g.52430809A>T	ENSP00000401514:p.Tyr3869Phe						p.Y3869F	NM_015512.4	NP_056327.4	Q9P2D7	DYH1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	72	11867	+			3934			AAA 6 (By similarity).		B0I1R6|O00436|O15435|O95491|Q6ZU48|Q86YK7|Q8TEJ4|Q92863|Q9H8E6|Q9UFW6|Q9Y4Z7	Missense_Mutation	SNP	ENST00000420323.2	37	c.11606A>T	CCDS46842.1	.	.	.	.	.	.	.	.	.	.	A	7.154	0.584388	0.13749	.	.	ENSG00000114841	ENST00000420323;ENST00000273600	T	0.08282	3.11	4.34	4.34	0.51931	.	0.090564	0.46145	D	0.000310	T	0.09818	0.0241	N	0.10733	0.035	0.51012	D	0.999903	B;D	0.71674	0.378;0.998	B;D	0.76071	0.317;0.987	T	0.13469	-1.0508	10	0.02654	T	1	.	13.6769	0.62460	1.0:0.0:0.0:0.0	.	3869;3934	C9JXH6;Q9P2D7-2	.;.	F	3869;622	ENSP00000401514:Y3869F	ENSP00000273600:Y622F	Y	+	2	0	DNAH1	52405849	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	3.745000	0.55119	1.824000	0.53156	0.482000	0.46254	TAC		0.597	DNAH1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350816.1	NM_015512		80	197	0	0	0	0.870114	0	80	197					T	52430809	A	T	52430809	3	4	99	1	0	0	0	0	1	0	0	0	4597	391	14	5	11888	5	DNAH1	3	52430809	Missense_Mutation	SNP	A	TCGA-EJ-7788-01A-11D-2114-08		52430809	145591621	6	5539											
TMF1	7110	broad.mit.edu	37	chr3	69075248	69075248	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aacagaaaatggcttgcgttCcttagggagtaaaaaaaatt	17	10	9	5	1	0	1	0	0	0	1	1	2	1	2	1	2	2	3	1	2	8	5			TCGA-EJ-7788-01A-11D-2114-08	TCGA-EJ-7788-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea80f854-fec4-4811-9bec-038808522568	8dc89778-02e1-41c1-9b74-554f60f86c4d	g.chr3:69075248C>A	ENST00000398559.2	-	14	2974	c.2758G>T	c.(2758-2760)Gaa>Taa	p.E920*	TMF1_ENST00000543976.1_Splice_Site_p.E923*|CTD-2013N24.2_ENST00000596523.1_RNA|TMF1_ENST00000489370.1_5'UTR|CTD-2013N24.2_ENST00000601511.1_RNA|CTD-2013N24.2_ENST00000597366.1_RNA|CTD-2013N24.2_ENST00000597950.1_RNA|CTD-2013N24.2_ENST00000598783.1_RNA|CTD-2013N24.2_ENST00000601735.1_RNA|CTD-2013N24.2_ENST00000599467.1_RNA|CTD-2013N24.2_ENST00000595925.1_RNA|CTD-2013N24.2_ENST00000596732.1_RNA|CTD-2013N24.2_ENST00000482368.2_RNA			P82094	TMF1_HUMAN	TATA element modulatory factor 1	920					acrosome assembly (GO:0001675)|cellular response to organic cyclic compound (GO:0071407)|defense response to bacterium (GO:0042742)|Leydig cell differentiation (GO:0033327)|luteinizing hormone secretion (GO:0032275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of gene expression (GO:0010629)|positive regulation of cytokine production (GO:0001819)|positive regulation of testosterone secretion (GO:2000845)|regulation of proteasomal protein catabolic process (GO:0061136)|regulation of transcription, DNA-templated (GO:0006355)|sperm motility (GO:0030317)|spermatid nucleus differentiation (GO:0007289)|transcription from RNA polymerase II promoter (GO:0006366)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|transcription cofactor activity (GO:0003712)			cervix(1)|kidney(1)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22		Lung NSC(201;0.0193)|Prostate(884;0.174)		BRCA - Breast invasive adenocarcinoma(55;4.48e-05)|Epithelial(33;0.000274)|LUSC - Lung squamous cell carcinoma(21;0.0123)|KIRC - Kidney renal clear cell carcinoma(39;0.211)|Kidney(39;0.247)		GGCTTGCGTTCCTTAGGGAGT	0.388																																						ENST00000543976.1																			0				cervix(1)|kidney(1)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						c.e14-1		TATA element modulatory factor 1							91	87	88					3																	69075248		1884	4111	5995	SO:0001630	splice_region_variant	7110				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Golgi membrane|nucleus	DNA binding|protein binding|transcription cofactor activity	g.chr3:69075248C>A		CCDS43105.1	3p21-p12	2009-02-11			ENSG00000144747	ENSG00000144747			11870	protein-coding gene	gene with protein product		601126				1409643	Standard	NM_007114		Approved	ARA160, TMF	uc003dnn.3	P82094	OTTHUMG00000158771	ENST00000398559.2:c.2758-1G>T	3.37:g.69075248C>A						CTD-2013N24.2_ENST00000597950.1_RNA|CTD-2013N24.2_ENST00000601511.1_RNA|TMF1_ENST00000489370.1_5'UTR|CTD-2013N24.2_ENST00000595925.1_RNA|CTD-2013N24.2_ENST00000599467.1_RNA|CTD-2013N24.2_ENST00000598783.1_RNA|CTD-2013N24.2_ENST00000482368.2_RNA|TMF1_ENST00000398559.2_Splice_Site_p.E920_splice|CTD-2013N24.2_ENST00000596732.1_RNA|CTD-2013N24.2_ENST00000601735.1_RNA|CTD-2013N24.2_ENST00000596523.1_RNA|CTD-2013N24.2_ENST00000597366.1_RNA	p.E923_splice	NM_007114.2	NP_009045.2	P82094	TMF1_HUMAN		BRCA - Breast invasive adenocarcinoma(55;4.48e-05)|Epithelial(33;0.000274)|LUSC - Lung squamous cell carcinoma(21;0.0123)|KIRC - Kidney renal clear cell carcinoma(39;0.211)|Kidney(39;0.247)	14	3013	-		Lung NSC(201;0.0193)|Prostate(884;0.174)	920					B7ZLJ2|Q17R87|Q59GK0	Splice_Site	SNP	ENST00000398559.2	37	c.2766_splice	CCDS43105.1	.	.	.	.	.	.	.	.	.	.	C	43	10.387890	0.99396	.	.	ENSG00000144747	ENST00000398559;ENST00000543976;ENST00000356248	.	.	.	5.04	5.04	0.67666	.	0.102796	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.14656	T	0.56	-9.8636	12.6223	0.56610	0.0:0.9126:0.0:0.0874	.	.	.	.	X	920;923;836	.	ENSP00000348582:E836X	E	-	1	0	TMF1	69157938	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	5.738000	0.68613	2.495000	0.84180	0.585000	0.79938	GAA		0.388	TMF1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000352106.1	NM_007114	Nonsense_Mutation	3	40	1	0	0.150653	0.150653	0.152837	3	40					A	69075248	C	A	69075248	5	1	99	1	0	0	0	0	0	0	1	0	16225	869	30	5	539	5	TMF1	3	69075248	Splice_Site	SNP	C	TCGA-EJ-7788-01A-11D-2114-08	16644439	69075248	128947182	7	5540											
UMPS	7372	broad.mit.edu	37	chr3	124449418	124449418	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctgaagagcgggctttccTcccccatctacatcgatctg	7	11	9	14	2	2	2	0	1	2	1	5	3	4	2	3	1	3	2	3	1	2	2			TCGA-EJ-7788-01A-11D-2114-08	TCGA-EJ-7788-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea80f854-fec4-4811-9bec-038808522568	8dc89778-02e1-41c1-9b74-554f60f86c4d	g.chr3:124449418T>C	ENST00000232607.2	+	1	206	c.100T>C	c.(100-102)Tcc>Ccc	p.S34P	UMPS_ENST00000413078.2_5'UTR|UMPS_ENST00000538242.1_5'UTR|UMPS_ENST00000536109.1_5'UTR|MIR544B_ENST00000582372.1_RNA	NM_000373.3	NP_000364.1	P11172	UMPS_HUMAN	uridine monophosphate synthetase	34	OPRTase.				'de novo' pyrimidine nucleobase biosynthetic process (GO:0006207)|'de novo' UMP biosynthetic process (GO:0044205)|cellular response to drug (GO:0035690)|female pregnancy (GO:0007565)|lactation (GO:0007595)|nucleobase-containing small molecule metabolic process (GO:0055086)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside biosynthetic process (GO:0046134)|small molecule metabolic process (GO:0044281)|UMP biosynthetic process (GO:0006222)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	orotate phosphoribosyltransferase activity (GO:0004588)|orotidine-5'-phosphate decarboxylase activity (GO:0004590)			cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	16				GBM - Glioblastoma multiforme(114;0.146)	Fluorouracil(DB00544)	CGGGCTTTCCTCCCCCATCTA	0.602																																						ENST00000232607.2																			0				cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	16						c.(100-102)Tcc>Ccc		uridine monophosphate synthetase							88	78	82					3																	124449418		2203	4300	6503	SO:0001583	missense	7372				'de novo' pyrimidine base biosynthetic process|'de novo' UMP biosynthetic process|pyrimidine nucleoside biosynthetic process	cytosol|nucleus	orotate phosphoribosyltransferase activity|orotidine-5'-phosphate decarboxylase activity	g.chr3:124449418T>C		CCDS3029.1	3q13	2008-02-04	2008-02-04		ENSG00000114491	ENSG00000114491	2.4.2.10, 4.1.1.23		12563	protein-coding gene	gene with protein product	"orotate phosphoribosyl transferase and orotidine-5'-decarboxylase"	613891				2767686	Standard	NM_000373		Approved		uc003ehl.4	P11172	OTTHUMG00000159431	ENST00000232607.2:c.100T>C	3.37:g.124449418T>C	ENSP00000232607:p.Ser34Pro					UMPS_ENST00000536109.1_5'UTR|UMPS_ENST00000413078.2_5'UTR|UMPS_ENST00000538242.1_5'UTR	p.S34P	NM_000373.3	NP_000364.1	P11172	UMPS_HUMAN		GBM - Glioblastoma multiforme(114;0.146)	1	206	+			34			OPRTase.		B5LY68|B5LY72|O00758|O00759|O00760|Q16862|Q9H3Q2|Q9UG49	Missense_Mutation	SNP	ENST00000232607.2	37	c.100T>C	CCDS3029.1	.	.	.	.	.	.	.	.	.	.	T	23.5	4.420850	0.83559	.	.	ENSG00000114491	ENST00000232607	T	0.74947	-0.89	5.15	5.15	0.70609	.	0.063541	0.64402	D	0.000004	D	0.90913	0.7144	H	0.98133	4.155	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	D	0.93860	0.7153	10	0.87932	D	0	-10.4186	13.7115	0.62672	0.0:0.0:0.0:1.0	.	34	P11172	UMPS_HUMAN	P	34	ENSP00000232607:S34P	ENSP00000232607:S34P	S	+	1	0	UMPS	125932108	1.000000	0.71417	0.927000	0.36925	0.718000	0.41266	5.170000	0.64990	2.155000	0.67459	0.460000	0.39030	TCC		0.602	UMPS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355271.1	NM_000373		3	98	0	0	0	0.150653	0	3	98					C	124449418	T	C	124449418	3	2	99	1	0	0	0	0	1	0	0	0	16978	1551	54	4	102	4	UMPS	3	124449418	Missense_Mutation	SNP	T	TCGA-EJ-7788-01A-11D-2114-08	55374170	124449418	73573012	8	5541											
LPP	4026	broad.mit.edu	37	chr3	188327155	188327155	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtcccagcctcctacaccacGgcctccacttcttcaaggcc	7	8	6	20	1	2	0	1	0	1	0	5	0	5	0	7	2	2	0	7	2	2	3			TCGA-EJ-7788-01A-11D-2114-08	TCGA-EJ-7788-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea80f854-fec4-4811-9bec-038808522568	8dc89778-02e1-41c1-9b74-554f60f86c4d	g.chr3:188327155G>T	ENST00000312675.4	+	6	882	c.636G>T	c.(634-636)acG>acT	p.T212T	LPP_ENST00000543006.1_Silent_p.T212T|LPP_ENST00000448637.1_Silent_p.T212T|LPP_ENST00000471917.1_3'UTR	NM_001167672.1|NM_005578.3	NP_001161144.1|NP_005569.1	Q93052	LPP_HUMAN	LIM domain containing preferred translocation partner in lipoma	212	Pro-rich.				cell adhesion (GO:0007155)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	zinc ion binding (GO:0008270)		HMGA2/LPP(161)	NS(1)|breast(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)	10	all_cancers(143;1.37e-09)|all_hematologic(3;0.0429)|Ovarian(172;0.088)	all_lung(153;0.00139)|Lung NSC(153;0.00202)		GBM - Glioblastoma multiforme(93;0.00602)		CCTACACCACGGCCTCCACTT	0.562			T	"HMGA2, MLL, C12orf9"	"lipoma, leukemia"																																	ENST00000312675.4				Dom	yes		3	3q28	4026	T	LIM domain containing preferred translocation partner in lipoma			"L, M"	"HMGA2, MLL, C12orf9"		"lipoma, leukemia"	HMGA2/LPP(161)	0				NS(1)|breast(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)	10						c.(634-636)acG>acT		LIM domain containing preferred translocation partner in lipoma							80	81	81					3																	188327155		2203	4300	6503	SO:0001819	synonymous_variant	4026				cell adhesion	cytoplasm|focal adhesion|nucleus	protein binding|zinc ion binding	g.chr3:188327155G>T	AL833171	CCDS3291.1	3q27-q28	2004-03-02	2002-01-14		ENSG00000145012	ENSG00000145012			6679	protein-coding gene	gene with protein product		600700	"LIM domain-containing preferred translocation partner in lipoma"			8812423	Standard	XM_005247453		Approved		uc003frs.2	Q93052	OTTHUMG00000156387	ENST00000312675.4:c.636G>T	3.37:g.188327155G>T						LPP_ENST00000448637.1_Silent_p.T212T|LPP_ENST00000543006.1_Silent_p.T212T|LPP_ENST00000471917.1_3'UTR	p.T212T	NM_001167672.1|NM_005578.3	NP_001161144.1|NP_005569.1	Q93052	LPP_HUMAN		GBM - Glioblastoma multiforme(93;0.00602)	6	882	+	all_cancers(143;1.37e-09)|all_hematologic(3;0.0429)|Ovarian(172;0.088)	all_lung(153;0.00139)|Lung NSC(153;0.00202)	212			Pro-rich.		A1L4L6|D3DNV6|Q8NFX5	Silent	SNP	ENST00000312675.4	37	c.636G>T	CCDS3291.1																																																																																				0.562	LPP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344030.1	NM_005578		40	70	1	0	3.43241e-23	0.847076	4.21525e-23	40	70					T	188327155	G	T	188327155	2	4	99	1	0	0	0	0	0	0	0	1	8923	1103	39	5		5	LPP	3	188327155	Silent	SNP	G	TCGA-EJ-7788-01A-11D-2114-08	63877737	188327155	9695275	9	5542											
ADAM29	11086	broad.mit.edu	37	chr4	175897613	175897613	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtgtacaccacaccgtagtTgtgcaattgttactttcatg	9	15	8	9	1	1	0	1	0	0	0	1	0	1	0	2	0	3	5	2	0	4	6			TCGA-EJ-7788-01A-11D-2114-08	TCGA-EJ-7788-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea80f854-fec4-4811-9bec-038808522568	8dc89778-02e1-41c1-9b74-554f60f86c4d	g.chr4:175897613T>C	ENST00000359240.3	+	5	1607	c.937T>C	c.(937-939)Tgt>Cgt	p.C313R	ADAM29_ENST00000404450.4_Missense_Mutation_p.C313R|ADAM29_ENST00000445694.1_Missense_Mutation_p.C313R|RP13-577H12.2_ENST00000507525.1_RNA|ADAM29_ENST00000514159.1_Missense_Mutation_p.C313R	NM_001278125.1|NM_014269.4	NP_001265054.1|NP_055084.3	Q9UKF5	ADA29_HUMAN	ADAM metallopeptidase domain 29	313	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				spermatogenesis (GO:0007283)	integral component of plasma membrane (GO:0005887)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)		ACACCGTAGTTGTGCAATTGT	0.418																																					Ovarian(140;1727 1835 21805 25838 41440)	ENST00000359240.3																			0				NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93						c.(937-939)Tgt>Cgt		ADAM metallopeptidase domain 29							154	152	153					4																	175897613		2203	4300	6503	SO:0001583	missense	11086				proteolysis|spermatogenesis	integral to plasma membrane	metalloendopeptidase activity|zinc ion binding	g.chr4:175897613T>C	AF171929	CCDS3823.1	4q34.1	2012-05-16	2005-08-18		ENSG00000168594	ENSG00000168594		"ADAM metallopeptidase domain containing"	207	protein-coding gene	gene with protein product	"cancer/testis antigen 73"	604778	"a disintegrin and metalloproteinase domain 29"			10644455	Standard	NM_014269		Approved	svph1, CT73	uc031shw.1	Q9UKF5	OTTHUMG00000160764	ENST00000359240.3:c.937T>C	4.37:g.175897613T>C	ENSP00000352177:p.Cys313Arg					ADAM29_ENST00000445694.1_Missense_Mutation_p.C313R|ADAM29_ENST00000404450.4_Missense_Mutation_p.C313R|ADAM29_ENST00000514159.1_Missense_Mutation_p.C313R	p.C313R	NM_001278125.1|NM_014269.4	NP_001265054.1|NP_055084.3	Q9UKF5	ADA29_HUMAN		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)	5	1607	+		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)	313			Peptidase M12B.		Q4W5F3|Q9UHP1|Q9UKF3|Q9UKF4	Missense_Mutation	SNP	ENST00000359240.3	37	c.937T>C	CCDS3823.1	.	.	.	.	.	.	.	.	.	.	T	14.45	2.539782	0.45176	.	.	ENSG00000168594	ENST00000359240;ENST00000445694;ENST00000404450;ENST00000514159	T;T;T;T	0.10477	2.87;2.87;2.87;2.87	4.23	2.94	0.34122	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.218004	0.23250	U	0.050256	T	0.30916	0.0780	M	0.85197	2.74	0.39689	D	0.971015	D	0.89917	1.0	D	0.87578	0.998	T	0.08146	-1.0736	9	.	.	.	.	6.4968	0.22146	0.2158:0.0:0.0:0.7842	.	313	Q9UKF5	ADA29_HUMAN	R	313	ENSP00000352177:C313R;ENSP00000414544:C313R;ENSP00000384229:C313R;ENSP00000423517:C313R	.	C	+	1	0	ADAM29	176134188	0.156000	0.22821	0.575000	0.28536	0.009000	0.06853	0.612000	0.24283	1.904000	0.55121	0.523000	0.50628	TGT		0.418	ADAM29-201	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding				40	90	0	0	0	0.834066	0	40	90					C	175897613	T	C	175897613	3	2	99	1	0	0	0	0	1	0	0	0	247	1812	63	4	939	4	ADAM29	4	175897613	Missense_Mutation	SNP	T	TCGA-EJ-7788-01A-11D-2114-08		175897613	15256663	10	5543											
CSF1R	1436	broad.mit.edu	37	chr5	149452922	149452922	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctcaggctggtggtcagaaaAgggtcccaggtaggtccagt	9	8	15	9	0	2	1	2	0	0	1	4	1	4	1	2	6	0	2	2	6	3	1			TCGA-EJ-7788-01A-11D-2114-08	TCGA-EJ-7788-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea80f854-fec4-4811-9bec-038808522568	8dc89778-02e1-41c1-9b74-554f60f86c4d	g.chr5:149452922A>G	ENST00000286301.3	-	7	1315	c.1024T>C	c.(1024-1026)Ttt>Ctt	p.F342L	CSF1R_ENST00000543093.1_Intron	NM_005211.3	NP_005202.2	P07333	CSF1R_HUMAN	colony stimulating factor 1 receptor	342	Ig-like C2-type 4.				cell proliferation (GO:0008283)|cell-cell junction maintenance (GO:0045217)|cellular response to cytokine stimulus (GO:0071345)|cellular response to macrophage colony-stimulating factor stimulus (GO:0036006)|cytokine-mediated signaling pathway (GO:0019221)|hemopoiesis (GO:0030097)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|macrophage differentiation (GO:0030225)|mammary gland duct morphogenesis (GO:0060603)|monocyte differentiation (GO:0030224)|multicellular organismal development (GO:0007275)|osteoclast differentiation (GO:0030316)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol metabolic process (GO:0046488)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell migration (GO:0030335)|positive regulation of cell motility (GO:2000147)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chemokine secretion (GO:0090197)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|protein autophosphorylation (GO:0046777)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of bone resorption (GO:0045124)|regulation of cell shape (GO:0008360)|ruffle organization (GO:0031529)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|cytokine binding (GO:0019955)|macrophage colony-stimulating factor receptor activity (GO:0005011)|protein homodimerization activity (GO:0042803)			NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(38)|kidney(2)|large_intestine(6)|liver(3)|lung(23)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	93			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		Imatinib(DB00619)|Sunitinib(DB01268)	TGGTCAGAAAAGGGTCCCAGG	0.567																																						ENST00000286301.3																			0				NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(38)|kidney(2)|large_intestine(6)|liver(3)|lung(23)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	93						c.(1024-1026)Ttt>Ctt		colony stimulating factor 1 receptor	Imatinib(DB00619)|Sunitinib(DB01268)						222	206	211					5																	149452922		2203	4300	6503	SO:0001583	missense	1436				cell proliferation|multicellular organismal development|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane|receptor complex	ATP binding|cytokine binding|macrophage colony-stimulating factor receptor activity|protein homodimerization activity	g.chr5:149452922A>G	U63963	CCDS4302.1	5q32	2013-01-11	2008-08-01		ENSG00000182578	ENSG00000182578		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	2433	protein-coding gene	gene with protein product		164770	"McDonough feline sarcoma viral (v-fms) oncogene homolog"	FMS		1611909	Standard	NM_005211		Approved	C-FMS, CSFR, CD115	uc003lrm.3	P07333	OTTHUMG00000130050	ENST00000286301.3:c.1024T>C	5.37:g.149452922A>G	ENSP00000286301:p.Phe342Leu					CSF1R_ENST00000543093.1_Intron	p.F342L	NM_005211.3	NP_005202.2	P07333	CSF1R_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		7	1315	-			342			Ig-like C2-type 4.		B5A955|D3DQG2|Q6LDW5|Q6LDY4|Q86VW7	Missense_Mutation	SNP	ENST00000286301.3	37	c.1024T>C	CCDS4302.1	.	.	.	.	.	.	.	.	.	.	A	13.81	2.346743	0.41599	.	.	ENSG00000182578	ENST00000286301;ENST00000394307	T	0.75154	-0.91	4.81	3.57	0.40892	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	0.126288	0.36134	N	0.002776	T	0.61527	0.2354	L	0.50333	1.59	0.58432	D	0.999999	B;B	0.27068	0.069;0.167	B;B	0.27500	0.032;0.08	T	0.52162	-0.8612	10	0.07482	T	0.82	.	7.8672	0.29543	0.7895:0.2105:0.0:0.0	.	194;342	B4E2Y8;P07333	.;CSF1R_HUMAN	L	342;194	ENSP00000286301:F342L	ENSP00000286301:F342L	F	-	1	0	CSF1R	149433115	1.000000	0.71417	0.673000	0.29887	0.548000	0.35241	2.565000	0.45939	1.808000	0.52836	0.533000	0.62120	TTT		0.567	CSF1R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252329.2	NM_005211		4	254	0	0	0	0.217242	0	4	254					G	149452922	A	G	149452922	3	3	99	1	0	0	0	0	1	0	0	0	3932	72	3	4	1958	4	CSF1R	5	149452922	Missense_Mutation	SNP	A	TCGA-EJ-7788-01A-11D-2114-08		149452922	31462338	11	5544											
KIAA1949	170954	broad.mit.edu	37	chr6	30653494	30653496	+	In_Frame_Del	DEL	TGC	TGC	-																															gctcttcactccgttgttgtTgctgctgctgctgctgccgc																										TCGA-EJ-7788-01A-11D-2114-08	TCGA-EJ-7788-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea80f854-fec4-4811-9bec-038808522568	8dc89778-02e1-41c1-9b74-554f60f86c4d	g.chr6:30653494_30653496delTGC	ENST00000274853.3	-	1	2176_2178	c.300_302delGCA	c.(298-303)cagcaa>caa	p.100_101QQ>Q	NRM_ENST00000470733.1_5'Flank|PPP1R18_ENST00000399199.3_In_Frame_Del_p.100_101QQ>Q|PPP1R18_ENST00000488324.1_Intron	NM_133471.3	NP_597728.1	Q6NYC8	PPR18_HUMAN	protein phosphatase 1, regulatory subunit 18	100	Poly-Gln.					cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)		p.Q100Q(1)									CCGTtgttgttgctgctgctgct	0.65																																						ENST00000274853.3																			1	Substitution - coding silent(1)	p.Q100Q(1)	large_intestine(1)								c.(298-303)caa>ca		protein phosphatase 1, regulatory subunit 18			,	3,113,6,2396		0,0,0,3,5,0,103,1,4,1143					,	0.5	0.9		dbSNP_130	42	2,260,1,5209		0,0,0,2,9,0,242,0,1,2482	no	codingComplex,codingComplex	KIAA1949	NM_133471.3,NM_001134870.1	,	0,0,0,5,14,0,345,1,5,3625	A1A1,A1A2,A1A3,A1R,A2A2,A2A3,A2R,A3A3,A3R,RR		4.8063,4.8451,4.8185	,	,		5,373,7,7605				SO:0001651	inframe_deletion	170954					cytoplasm|cytoskeleton	actin binding	g.chr6:30653494_30653496delTGC	AK097089	CCDS43444.1	6p21.3	2012-04-17	2011-10-11	2011-10-11	ENSG00000146112	ENSG00000146112		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	29413	protein-coding gene	gene with protein product	"protein phosphatase 1 F-actin cytoskeleton targeting subunit"	610990	"KIAA1949"	KIAA1949		11853319	Standard	NM_001134870		Approved	phostensin	uc003nra.3	Q6NYC8	OTTHUMG00000031237	ENST00000274853.3:c.300_302delGCA	6.37:g.30653503_30653505delTGC	ENSP00000274853:p.Gln103del					PPP1R18_ENST00000488324.1_Intron|PPP1R18_ENST00000399199.3_In_Frame_Del_p.QQ102del	p.QQ102del	NM_133471.3	NP_597728.1	Q6NYC8	PHTNS_HUMAN			1	2176_2178	-			102			Poly-Gln.		A2AB01|A2AIB8|A4UBI6|A6NCB7|A8MSS7|B7ZCV7|Q68CK8|Q6ZTV1|Q6ZUJ6|Q8NDQ4|Q8TF52|Q9BRL9	In_Frame_Del	DEL	ENST00000274853.3	37	c.300_302delGCA	CCDS43444.1																																																																																				0.65	PPP1R18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076498.2	NM_133471		7	90						7	90	---	---	---	---	-	30653496	TGC	-	30653494	7	5	99	1	0	1	0	1	0	0	0	0	8263	1812	63	0	1551	0	KIAA1949	6	30653494	In_Frame_Del	DEL	TGC	TCGA-EJ-7788-01A-11D-2114-08		30653494	140461573	12	5545											
PTK7	5754	broad.mit.edu	37	chr6	43097526	43097526	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gaagctgagatccagccacaGacccaggtcacacttcgttg	11	7	10	13	1	1	2	1	1	0	2	3	4	2	2	3	1	2	2	3	1	1	2			TCGA-EJ-7788-01A-11D-2114-08	TCGA-EJ-7788-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea80f854-fec4-4811-9bec-038808522568	8dc89778-02e1-41c1-9b74-554f60f86c4d	g.chr6:43097526G>C	ENST00000230419.4	+	3	650	c.429G>C	c.(427-429)caG>caC	p.Q143H	PTK7_ENST00000349241.2_Missense_Mutation_p.Q143H|PTK7_ENST00000352931.2_Missense_Mutation_p.Q143H|PTK7_ENST00000481273.1_Missense_Mutation_p.Q151H|PTK7_ENST00000345201.2_Missense_Mutation_p.Q143H|PTK7_ENST00000471863.1_Missense_Mutation_p.Q143H	NM_002821.4	NP_002812.2	Q13308	PTK7_HUMAN	protein tyrosine kinase 7	143	Ig-like C2-type 2.				actin cytoskeleton reorganization (GO:0031532)|axis elongation (GO:0003401)|canonical Wnt signaling pathway (GO:0060070)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cellular response to retinoic acid (GO:0071300)|cochlea morphogenesis (GO:0090103)|convergent extension (GO:0060026)|establishment of epithelial cell apical/basal polarity (GO:0045198)|establishment of planar polarity (GO:0001736)|lung-associated mesenchyme development (GO:0060484)|neural tube closure (GO:0001843)|peptidyl-tyrosine phosphorylation (GO:0018108)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of neuron projection development (GO:0010976)|signal transduction (GO:0007165)|wound healing (GO:0042060)	cell-cell junction (GO:0005911)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(12)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00784)|OV - Ovarian serous cystadenocarcinoma(102;0.0423)			TCCAGCCACAGACCCAGGTCA	0.592											OREG0017449	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000230419.4																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(12)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						c.(427-429)caG>caC		protein tyrosine kinase 7							104	84	91					6																	43097526		2203	4300	6503	SO:0001583	missense	0				actin cytoskeleton reorganization|canonical Wnt receptor signaling pathway|cell adhesion|cell migration	cell-cell junction|integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr6:43097526G>C	AF447176	CCDS4884.1, CCDS4885.1, CCDS4886.1, CCDS4887.1, CCDS59021.1	6p21.1-p12.2	2013-02-18	2013-02-18		ENSG00000112655	ENSG00000112655	2.7.10.1	"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	9618	protein-coding gene	gene with protein product		601890	"PTK7 protein tyrosine kinase 7"			7478540	Standard	NM_002821		Approved	CCK4	uc011dve.2	Q13308	OTTHUMG00000014721	ENST00000230419.4:c.429G>C	6.37:g.43097526G>C	ENSP00000230419:p.Gln143His		OREG0017449	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	913	PTK7_ENST00000349241.2_Missense_Mutation_p.Q143H|PTK7_ENST00000481273.1_Missense_Mutation_p.Q151H|PTK7_ENST00000345201.2_Missense_Mutation_p.Q143H|PTK7_ENST00000352931.2_Missense_Mutation_p.Q143H|PTK7_ENST00000471863.1_Missense_Mutation_p.Q143H	p.Q143H	NM_002821.4	NP_002812.2	Q13308	PTK7_HUMAN	Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00784)|OV - Ovarian serous cystadenocarcinoma(102;0.0423)		3	650	+			143			Ig-like C2-type 2.		A8K974|B7Z477|E9PFZ5|Q13417|Q5T650|Q6IQ54|Q8NFA5|Q8NFA6|Q8NFA7|Q8NFA8	Missense_Mutation	SNP	ENST00000230419.4	37	c.429G>C	CCDS4884.1	.	.	.	.	.	.	.	.	.	.	G	17.28	3.348568	0.61183	.	.	ENSG00000112655	ENST00000230419;ENST00000471863;ENST00000349241;ENST00000352931;ENST00000345201;ENST00000481273;ENST00000419972	T;T;T;T;T;T	0.35421	1.31;1.31;1.31;1.31;1.31;1.31	5.66	4.78	0.61160	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);	0.302105	0.36374	N	0.002638	T	0.25082	0.0609	N	0.25380	0.74	0.29345	N	0.865729	P;P;D;P;D;P	0.58970	0.699;0.898;0.964;0.898;0.984;0.951	P;P;P;P;P;P	0.59115	0.699;0.694;0.717;0.579;0.852;0.793	T	0.10245	-1.0638	10	0.72032	D	0.01	.	8.986	0.35994	0.0:0.2408:0.5107:0.2485	.	151;143;143;143;143;143	E9PFZ5;Q13308-3;Q13308-2;Q13308-4;Q13308;Q86X91	.;.;.;.;PTK7_HUMAN;.	H	143;143;143;143;143;151;151	ENSP00000230419:Q143H;ENSP00000419037:Q143H;ENSP00000325462:Q143H;ENSP00000326029:Q143H;ENSP00000325992:Q143H;ENSP00000418754:Q151H	ENSP00000230418:Q143H	Q	+	3	2	PTK7	43205504	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	2.330000	0.43885	1.348000	0.45733	0.563000	0.77884	CAG		0.592	PTK7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040580.2			31	78	0	0	0	0.769981	0	31	78					C	43097526	G	C	43097526	3	2	99	1	0	0	0	0	1	0	0	0	12765	933	33	5	439	5	PTK7	6	43097526	Missense_Mutation	SNP	G	TCGA-EJ-7788-01A-11D-2114-08	12444032	43097526	128017541	13	5546											
SERINC1	57515	broad.mit.edu	37	chr6	122779772	122779772	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agttacagtggagttgtttcCactaggacagcatcggcata	11	11	11	8	1	0	0	0	0	0	0	2	2	1	2	1	3	2	5	1	3	3	5			TCGA-EJ-7788-01A-11D-2114-08	TCGA-EJ-7788-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea80f854-fec4-4811-9bec-038808522568	8dc89778-02e1-41c1-9b74-554f60f86c4d	g.chr6:122779772C>T	ENST00000339697.4	-	2	178	c.94G>A	c.(94-96)Gga>Aga	p.G32R		NM_020755.2	NP_065806.1	Q9NRX5	SERC1_HUMAN	serine incorporator 1	32					L-serine transport (GO:0015825)|phosphatidylserine metabolic process (GO:0006658)|phospholipid biosynthetic process (GO:0008654)|positive regulation of transferase activity (GO:0051347)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	L-serine transmembrane transporter activity (GO:0015194)			endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(2)|ovary(1)|skin(1)	13				GBM - Glioblastoma multiforme(226;0.126)		GAGTTGTTTCCACTAGGACAG	0.373																																						ENST00000368454.1																			0				endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(2)|ovary(1)|skin(1)	13						c.(94-96)Gga>Aga		serine incorporator 1							176	164	168					6																	122779772		2203	4300	6503	SO:0001583	missense	57515				phosphatidylserine metabolic process|phospholipid biosynthetic process|positive regulation of transferase activity|sphingolipid metabolic process	endoplasmic reticulum membrane|integral to membrane|plasma membrane	L-serine transmembrane transporter activity|protein binding	g.chr6:122779772C>T	AF087902	CCDS5125.1	6q22.32	2006-02-09	2005-10-14	2005-10-14	ENSG00000111897	ENSG00000111897			13464	protein-coding gene	gene with protein product		614548	"tumor differentially expressed 2"	TDE2		10637174	Standard	NM_020755		Approved	TMS-2, TDE1L, KIAA1253	uc003pyy.1	Q9NRX5	OTTHUMG00000015487	ENST00000339697.4:c.94G>A	6.37:g.122779772C>T	ENSP00000342962:p.Gly32Arg					SERINC1_ENST00000339697.3_Missense_Mutation_p.G32R	p.G32R			Q9NRX5	SERC1_HUMAN		GBM - Glioblastoma multiforme(226;0.126)	4	423	-			32					B3KY69|E1P565|O75655|Q7Z2F5|Q8TAG1|Q9NTH8|Q9ULG7	Missense_Mutation	SNP	ENST00000339697.4	37	c.94G>A	CCDS5125.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.359493	0.82353	.	.	ENSG00000111897	ENST00000339697;ENST00000368454	T;T	0.13420	2.59;2.59	5.14	5.14	0.70334	.	0.000000	0.85682	D	0.000000	T	0.12433	0.0302	L	0.46157	1.445	0.80722	D	1	B	0.30605	0.287	B	0.39299	0.296	T	0.04307	-1.0961	10	0.54805	T	0.06	-14.2083	18.9774	0.92743	0.0:1.0:0.0:0.0	.	32	Q9NRX5	SERC1_HUMAN	R	32	ENSP00000342962:G32R;ENSP00000357439:G32R	ENSP00000342962:G32R	G	-	1	0	SERINC1	122821471	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.903000	0.63272	2.551000	0.86045	0.650000	0.86243	GGA		0.373	SERINC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042031.2	NM_020755		53	108	0	0	0	0.870114	0	53	108					T	122779772	C	T	122779772	3	4	99	1	0	0	0	0	1	0	0	0	14079	603	21	3	1303	3	SERINC1	6	122779772	Missense_Mutation	SNP	C	TCGA-EJ-7788-01A-11D-2114-08	79682246	122779772	48335295	14	5547											
ADCYAP1R1	117	broad.mit.edu	37	chr7	31126590	31126590	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtgtgtgacagtgtgggctaCgctgagactctactttgatg	7	13	14	7	1	1	3	0	3	1	1	1	4	1	3	0	1	2	2	0	1	2	3	rs200730426	byFrequency	TCGA-EJ-7788-01A-11D-2114-08	TCGA-EJ-7788-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea80f854-fec4-4811-9bec-038808522568	8dc89778-02e1-41c1-9b74-554f60f86c4d	g.chr7:31126590C>T	ENST00000304166.4	+	11	1146	c.857C>T	c.(856-858)aCg>aTg	p.T286M	ADCYAP1R1_ENST00000409363.1_Missense_Mutation_p.T265M|ADCYAP1R1_ENST00000396211.2_Missense_Mutation_p.T286M|ADCYAP1R1_ENST00000409489.1_Missense_Mutation_p.T286M	NM_001118.4|NM_001199635.1|NM_001199636.1	NP_001109.2|NP_001186564.1|NP_001186565.1	P41586	PACR_HUMAN	adenylate cyclase activating polypeptide 1 (pituitary) receptor type I	286					activation of adenylate cyclase activity (GO:0007190)|cell differentiation (GO:0030154)|cell surface receptor signaling pathway (GO:0007166)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|spermatogenesis (GO:0007283)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	receptor activity (GO:0004872)|vasoactive intestinal polypeptide receptor activity (GO:0004999)			endometrium(1)|large_intestine(4)|liver(2)|lung(24)|ovary(1)|skin(2)|stomach(1)	35						GTGTGGGCTACGCTGAGACTC	0.512													C|||	2	0.000399361	0	0	5008	,	,		20759	0.001		0	False		,,,				2504	0.001				Ovarian(44;225 1186 2158 11092)	ENST00000304166.4																			0				endometrium(1)|large_intestine(4)|liver(2)|lung(24)|ovary(1)|skin(2)|stomach(1)	35						c.(856-858)aCg>aTg		adenylate cyclase activating polypeptide 1 (pituitary) receptor type I							247	221	230					7																	31126590		2203	4300	6503	SO:0001583	missense	117				activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|spermatogenesis	integral to plasma membrane	vasoactive intestinal polypeptide receptor activity	g.chr7:31126590C>T		CCDS5433.1, CCDS56480.1, CCDS56481.1	7p14.3	2012-09-20			ENSG00000078549	ENSG00000078549		"GPCR / Class B : VIP and PACAP (ADCYAP1) receptors"	242	protein-coding gene	gene with protein product	"PACAP receptor 1"	102981				7902709	Standard	NM_001199635		Approved	PAC1, PACAPR, PAC1R	uc003tcg.3	P41586	OTTHUMG00000023884	ENST00000304166.4:c.857C>T	7.37:g.31126590C>T	ENSP00000306620:p.Thr286Met					ADCYAP1R1_ENST00000409489.1_Missense_Mutation_p.T286M|ADCYAP1R1_ENST00000409363.1_Missense_Mutation_p.T265M|ADCYAP1R1_ENST00000396211.2_Missense_Mutation_p.T286M	p.T286M	NM_001118.4|NM_001199635.1|NM_001199636.1	NP_001109.2|NP_001186564.1|NP_001186565.1	P41586	PACR_HUMAN			11	1146	+			286					A8K1Y1|B7ZLA7|B8ZZK3|Q17S10	Missense_Mutation	SNP	ENST00000304166.4	37	c.857C>T	CCDS5433.1	.	.	.	.	.	.	.	.	.	.	C	6.615	0.481874	0.12581	.	.	ENSG00000078549	ENST00000304166;ENST00000381667;ENST00000409363;ENST00000396211;ENST00000409489	T;T;T;T	0.37752	1.23;1.18;1.21;1.21	5.56	-0.273	0.12915	GPCR, family 2-like (1);	0.460920	0.23249	N	0.050264	T	0.20495	0.0493	N	0.16790	0.44	0.09310	N	1	B;B;B;B;B	0.10296	0.002;0.002;0.003;0.001;0.001	B;B;B;B;B	0.12837	0.003;0.003;0.008;0.003;0.003	T	0.15665	-1.0429	10	0.46703	T	0.11	.	10.1044	0.42524	0.0:0.2324:0.0:0.7676	.	286;286;286;265;286	B7ZLA7;Q17S10;E9PFU5;B8ZZK3;P41586	.;.;.;.;PACR_HUMAN	M	286;57;265;286;286	ENSP00000306620:T286M;ENSP00000387335:T265M;ENSP00000379514:T286M;ENSP00000386395:T286M	ENSP00000306620:T286M	T	+	2	0	ADCYAP1R1	31093115	0.931000	0.31567	0.005000	0.12908	0.342000	0.28953	2.882000	0.48546	-0.277000	0.09193	-0.142000	0.14014	ACG		0.512	ADCYAP1R1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000215041.3	NM_001118		56	94	0	0	0	0.870114	0	56	94					T	31126590	C	T	31126590	3	4	99	1	0	0	0	0	1	0	0	0	303	536	19	1	895	1	ADCYAP1R1	7	31126590	Missense_Mutation	SNP	C	TCGA-EJ-7788-01A-11D-2114-08		31126590	128012073	15	5548											
DAPK1	1612	broad.mit.edu	37	chr9	90252885	90252885	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggtggcgagctgtttgacttCttagctgaaaaggaatcttt	9	14	12	6	1	2	2	0	2	2	0	2	4	2	3	0	3	2	3	0	3	4	4			TCGA-EJ-7788-01A-11D-2114-08	TCGA-EJ-7788-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea80f854-fec4-4811-9bec-038808522568	8dc89778-02e1-41c1-9b74-554f60f86c4d	g.chr9:90252885C>T	ENST00000408954.3	+	4	647	c.312C>T	c.(310-312)ttC>ttT	p.F104F	DAPK1_ENST00000358077.5_Silent_p.F104F|DAPK1_ENST00000469640.2_Silent_p.F104F|DAPK1_ENST00000472284.1_Silent_p.F104F|DAPK1_ENST00000491893.1_Silent_p.F104F	NM_004938.2	NP_004929.2	P53355	DAPK1_HUMAN	death-associated protein kinase 1	104	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cellular response to interferon-gamma (GO:0071346)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|intracellular signal transduction (GO:0035556)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of translation (GO:0017148)|positive regulation of apoptotic process (GO:0043065)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of apoptotic process (GO:0042981)|regulation of autophagy (GO:0010506)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|calmodulin-dependent protein kinase activity (GO:0004683)|identical protein binding (GO:0042802)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(27)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(3)|stomach(1)	72						TGTTTGACTTCTTAGCTGAAA	0.418									Chronic Lymphocytic Leukemia, Familial Clustering of																													ENST00000469640.2																			0				breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(27)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(3)|stomach(1)	72						c.(310-312)ttC>ttT		death-associated protein kinase 1							116	113	114					9																	90252885		2053	4223	6276	SO:0001819	synonymous_variant	1612	Chronic Lymphocytic Leukemia, Familial Clustering of	Familial Cancer Database	Familial CLL	apoptosis|induction of apoptosis by extracellular signals|intracellular protein kinase cascade	actin cytoskeleton|cytoplasm	ATP binding|calmodulin binding|protein serine/threonine kinase activity	g.chr9:90252885C>T	X76104	CCDS43842.1	9q34.1	2013-01-10			ENSG00000196730	ENSG00000196730		"Ankyrin repeat domain containing"	2674	protein-coding gene	gene with protein product		600831				8530096	Standard	XM_005251757		Approved	DAPK	uc004apd.3	P53355	OTTHUMG00000020150	ENST00000408954.3:c.312C>T	9.37:g.90252885C>T						DAPK1_ENST00000491893.1_Silent_p.F104F|DAPK1_ENST00000408954.3_Silent_p.F104F|DAPK1_ENST00000358077.5_Silent_p.F104F|DAPK1_ENST00000472284.1_Silent_p.F104F	p.F104F			P53355	DAPK1_HUMAN			4	687	+			104			Protein kinase.		B7ZLD2|B7ZLE7|Q14CQ7|Q1W5W0|Q68CP8|Q6ZRZ3|Q9BTL8	Silent	SNP	ENST00000408954.3	37	c.312C>T	CCDS43842.1																																																																																				0.418	DAPK1-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356843.1	NM_004938		8	93	0	0	0	0.361761	0	8	93					T	90252885	C	T	90252885	2	4	99	1	0	0	0	0	0	0	0	1	4235	912	32	3		3	DAPK1	9	90252885	Silent	SNP	C	TCGA-EJ-7788-01A-11D-2114-08		90252885	50960546	16	5549											
DDX31	64794	broad.mit.edu	37	chr9	135522235	135522235	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atttctgaaggatgaaggccGctaggcagacaagcctcagt	12	8	12	9	1	2	3	1	2	1	1	2	4	2	4	2	3	1	2	2	3	4	2	rs565096559		TCGA-EJ-7788-01A-11D-2114-08	TCGA-EJ-7788-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea80f854-fec4-4811-9bec-038808522568	8dc89778-02e1-41c1-9b74-554f60f86c4d	g.chr9:135522235G>A	ENST00000372159.3	-	12	1644	c.1493C>T	c.(1492-1494)gCg>gTg	p.A498V	DDX31_ENST00000372153.1_Missense_Mutation_p.A498V|DDX31_ENST00000438527.3_Missense_Mutation_p.A369V|DDX31_ENST00000310532.2_Missense_Mutation_p.A498V	NM_022779.7	NP_073616.6	Q9H8H2	DDX31_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 31	498	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.					nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(1)	27				OV - Ovarian serous cystadenocarcinoma(145;2.67e-06)|Epithelial(140;7.61e-05)		GATGAAGGCCGCTAGGCAGAC	0.532													G|||	1	0.000199681	0	0.0014	5008	,	,		19490	0		0	False		,,,				2504	0					ENST00000372159.3																			0				breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(1)	27						c.(1492-1494)gCg>gTg		DEAD (Asp-Glu-Ala-Asp) box polypeptide 31							108	99	102					9																	135522235		2203	4300	6503	SO:0001583	missense	64794					nucleolus	ATP binding|ATP-dependent helicase activity|RNA binding	g.chr9:135522235G>A	AF427339	CCDS6951.1, CCDS6952.1	9q34.2	2012-04-17	2003-06-13		ENSG00000125485	ENSG00000125485		"DEAD-boxes", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	16715	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 25"		"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 31"				Standard	NM_022779		Approved	FLJ13633, FLJ23349, FLJ14578, PPP1R25	uc004cbq.1	Q9H8H2	OTTHUMG00000020843	ENST00000372159.3:c.1493C>T	9.37:g.135522235G>A	ENSP00000361232:p.Ala498Val					DDX31_ENST00000310532.2_Missense_Mutation_p.A498V|DDX31_ENST00000372153.1_Missense_Mutation_p.A498V|DDX31_ENST00000438527.3_Missense_Mutation_p.A369V	p.A498V	NM_022779.7	NP_073616.6	Q9H8H2	DDX31_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;2.67e-06)|Epithelial(140;7.61e-05)	12	1644	-			498			Helicase C-terminal.		Q5K6N2|Q5K6N3|Q5K6N4|Q5VZJ4|Q5VZJ9|Q96E91|Q96NY2|Q96SX5|Q9H5K6	Missense_Mutation	SNP	ENST00000372159.3	37	c.1493C>T	CCDS6951.1	.	.	.	.	.	.	.	.	.	.	G	23.9	4.475417	0.84640	.	.	ENSG00000125485	ENST00000372159;ENST00000372155;ENST00000372153;ENST00000438527;ENST00000310532	T;D;T;T	0.91996	3.62;-2.95;3.62;3.57	5.46	5.46	0.80206	Helicase, C-terminal (1);	0.046781	0.85682	D	0.000000	D	0.91143	0.7211	N	0.11892	0.195	0.80722	D	1	D;D	0.89917	1.0;0.983	D;P	0.68943	0.961;0.521	D	0.89071	0.3469	10	0.17832	T	0.49	-18.8442	18.288	0.90120	0.0:0.0:1.0:0.0	.	498;498	Q9H8H2-2;Q9H8H2	.;DDX31_HUMAN	V	498;498;498;369;498	ENSP00000361232:A498V;ENSP00000361226:A498V;ENSP00000387730:A369V;ENSP00000310539:A498V	ENSP00000310539:A498V	A	-	2	0	DDX31	134512056	1.000000	0.71417	0.212000	0.23672	0.962000	0.63368	5.700000	0.68318	2.549000	0.85964	0.655000	0.94253	GCG		0.532	DDX31-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000054794.1	NM_138620		4	134	0	0	0	0.248553	0	4	134					A	135522235	G	A	135522235	3	1	99	1	0	0	0	0	1	0	0	0	4356	1087	38	1	1105	1	DDX31	9	135522235	Missense_Mutation	SNP	G	TCGA-EJ-7788-01A-11D-2114-08	45269350	135522235	5691196	17	5550											
KRTAP5-4	387267	broad.mit.edu	37	chr11	1643175	1643175	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcagcagcagatgggcacaCagcagctggagccacagccc	11	3	13	14	0	0	1	0	0	0	1	0	2	0	2	2	2	7	6	2	2	0	0			TCGA-EJ-7788-01A-11D-2114-08	TCGA-EJ-7788-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea80f854-fec4-4811-9bec-038808522568	8dc89778-02e1-41c1-9b74-554f60f86c4d	g.chr11:1643175C>T	ENST00000399682.1	-	1	193	c.149G>A	c.(148-150)tGt>tAt	p.C50Y		NM_001012709.1	NP_001012727	Q6L8H1	KRA54_HUMAN	keratin associated protein 5-4	0	9 X 4 AA repeats of C-C-X-P.					keratin filament (GO:0045095)				NS(1)|endometrium(9)|kidney(2)|lung(2)|pancreas(1)|prostate(3)|skin(2)	20		all_epithelial(84;0.00819)|Breast(177;0.00832)|Ovarian(85;0.0256)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		GATGGGCACACAGCAGCTGGa	0.682																																						ENST00000399682.1																			0				NS(1)|endometrium(9)|kidney(2)|lung(2)|pancreas(1)|prostate(3)|skin(2)	20						c.(148-150)tGt>tAt		keratin associated protein 5-4							9	18	15					11																	1643175		687	1577	2264	SO:0001583	missense	387267					keratin filament		g.chr11:1643175C>T	AB126073		11p15.5	2012-04-19			ENSG00000241598	ENSG00000241598		"Keratin associated proteins"	23599	protein-coding gene	gene with protein product						15144888	Standard	NM_001012709		Approved	KRTAP5.4	uc009ycy.1	Q6L8H1	OTTHUMG00000057553	ENST00000399682.1:c.149G>A	11.37:g.1643175C>T	ENSP00000382590:p.Cys50Tyr						p.C50Y	NM_001012709.1	NP_001012727.1	Q6L8H1	KRA54_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)	1	193	-		all_epithelial(84;0.00819)|Breast(177;0.00832)|Ovarian(85;0.0256)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)	50			9 X 4 AA repeats of C-C-X-P.			Missense_Mutation	SNP	ENST00000399682.1	37	c.149G>A		.	.	.	.	.	.	.	.	.	.	C	12.82	2.053978	0.36277	.	.	ENSG00000241598	ENST00000399682;ENST00000328953	T	0.01034	5.42	3.17	3.17	0.36434	.	.	.	.	.	T	0.04182	0.0116	M	0.87456	2.885	0.29415	N	0.860974	.	.	.	.	.	.	T	0.01096	-1.1453	7	0.87932	D	0	.	10.1583	0.42836	0.0:1.0:0.0:0.0	.	.	.	.	Y	50	ENSP00000382590:C50Y	ENSP00000331603:C50Y	C	-	2	0	KRTAP5-4	1599751	0.997000	0.39634	0.994000	0.49952	0.805000	0.45488	4.665000	0.61547	1.462000	0.47948	0.586000	0.80456	TGT		0.682	KRTAP5-4-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000127918.1	NM_001012709		73	149	0	0	0	0.870114	0	73	149					T	1643175	C	T	1643175	3	4	99	1	0	0	0	0	1	0	0	0	8563	478	17	3	541	3	KRTAP5-4	11	1643175	Missense_Mutation	SNP	C	TCGA-EJ-7788-01A-11D-2114-08		1643175	133363341	18	5551											
MRGPRD	116512	broad.mit.edu	37	chr11	68747555	68747555	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttccagctcgggctcctcgcGaagcgcctgttggagcacag	6	8	13	14	4	0	0	0	0	0	0	4	2	2	1	3	2	3	4	3	2	1	2			TCGA-EJ-7788-01A-11D-2114-08	TCGA-EJ-7788-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea80f854-fec4-4811-9bec-038808522568	8dc89778-02e1-41c1-9b74-554f60f86c4d	g.chr11:68747555G>A	ENST00000309106.3	-	1	900	c.901C>T	c.(901-903)Cgc>Tgc	p.R301C		NM_198923.2	NP_944605.2	Q8TDS7	MRGRD_HUMAN	MAS-related GPR, member D	301						extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(7)|pancreas(1)|prostate(2)	22			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			GGCTCCTCGCGAAGCGCCTGT	0.677																																						ENST00000309106.3																			0				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(7)|pancreas(1)|prostate(2)	22						c.(901-903)Cgc>Tgc		MAS-related GPR, member D							28	35	33					11																	68747555		2170	4223	6393	SO:0001583	missense	116512					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr11:68747555G>A	AB083627	CCDS31625.1	11q13.3	2012-08-21			ENSG00000172938	ENSG00000172938		"GPCR / Class A : Orphans"	29626	protein-coding gene	gene with protein product		607231				11551509, 12909716	Standard	NM_198923		Approved	mrgD	uc010rqf.2	Q8TDS7	OTTHUMG00000167896	ENST00000309106.3:c.901C>T	11.37:g.68747555G>A	ENSP00000310631:p.Arg301Cys						p.R301C	NM_198923.2	NP_944605.2	Q8TDS7	MRGRD_HUMAN	STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)		1	900	-			301					Q8NGK7	Missense_Mutation	SNP	ENST00000309106.3	37	c.901C>T	CCDS31625.1	.	.	.	.	.	.	.	.	.	.	G	14.12	2.441443	0.43326	.	.	ENSG00000172938	ENST00000309106	T	0.04119	3.7	4.11	-5.43	0.02632	.	1.357460	0.05632	U	0.581908	T	0.05227	0.0139	M	0.65975	2.015	0.09310	N	1	B	0.26002	0.139	B	0.12156	0.007	T	0.44406	-0.9330	10	0.56958	D	0.05	-5.6552	2.2757	0.04102	0.1624:0.1048:0.2832:0.4495	.	301	Q8TDS7	MRGRD_HUMAN	C	301	ENSP00000310631:R301C	ENSP00000310631:R301C	R	-	1	0	MRGPRD	68504131	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.593000	0.05740	-0.637000	0.05516	-1.425000	0.01104	CGC		0.677	MRGPRD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396874.1	NM_198923		14	33	0	0	0	0.557998	0	14	33					A	68747555	G	A	68747555	3	1	99	1	0	0	0	0	1	0	0	0	9763	1058	37	2	67	2	MRGPRD	11	68747555	Missense_Mutation	SNP	G	TCGA-EJ-7788-01A-11D-2114-08	67104380	68747555	66258961	19	5552											
GDPD5	81544	broad.mit.edu	37	chr11	75150998	75150998	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acccacatgagacagtactcGtccgggggctgtggacagac	10	6	13	12	2	0	2	0	1	0	2	2	4	1	3	2	3	1	2	2	3	1	1	rs371504591		TCGA-EJ-7788-01A-11D-2114-08	TCGA-EJ-7788-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea80f854-fec4-4811-9bec-038808522568	8dc89778-02e1-41c1-9b74-554f60f86c4d	g.chr11:75150998G>A	ENST00000336898.3	-	15	2319	c.1482C>T	c.(1480-1482)gaC>gaT	p.D494D	GDPD5_ENST00000443276.2_3'UTR|GDPD5_ENST00000529721.1_Silent_p.D494D|GDPD5_ENST00000533784.1_Silent_p.D375D|GDPD5_ENST00000376282.3_Silent_p.D375D|GDPD5_ENST00000526177.1_Silent_p.D356D|GDPD5_ENST00000533805.1_Silent_p.D249D	NM_030792.6	NP_110419.5	Q8WTR4	GDPD5_HUMAN	glycerophosphodiester phosphodiesterase domain containing 5	494					cerebral cortex neuron differentiation (GO:0021895)|glycerol metabolic process (GO:0006071)|lipid metabolic process (GO:0006629)|negative regulation of Notch signaling pathway (GO:0045746)|neuron projection development (GO:0031175)|positive regulation of neuron differentiation (GO:0045666)|regulation of timing of cell differentiation (GO:0048505)|spinal cord motor neuron differentiation (GO:0021522)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	glycerophosphodiester phosphodiesterase activity (GO:0008889)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|skin(2)	20						GACAGTACTCGTCCGGGGGCT	0.602																																						ENST00000526177.1																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|skin(2)	20						c.(1066-1068)gaC>gaT		glycerophosphodiester phosphodiesterase domain containing 5		G		0,4400		0,0,2200	95	80	85		1482	0.8	1	11		85	2,8584	2.2+/-6.3	0,2,4291	no	coding-synonymous	GDPD5	NM_030792.6		0,2,6491	AA,AG,GG		0.0233,0.0,0.0154		494/606	75150998	2,12984	2200	4293	6493	SO:0001819	synonymous_variant	81544				glycerol metabolic process|lipid metabolic process|nervous system development	endomembrane system|growth cone|integral to membrane|perinuclear region of cytoplasm	glycerophosphodiester phosphodiesterase activity	g.chr11:75150998G>A	AF318377	CCDS8238.1	11q13.4-q13.5	2011-01-25				ENSG00000158555			28804	protein-coding gene	gene with protein product		609632				18667693, 17275818	Standard	NM_030792		Approved	PP1665, GDE2	uc001owp.4	Q8WTR4		ENST00000336898.3:c.1482C>T	11.37:g.75150998G>A						GDPD5_ENST00000533784.1_Silent_p.D375D|GDPD5_ENST00000443276.2_3'UTR|GDPD5_ENST00000533805.1_Silent_p.D249D|GDPD5_ENST00000529721.1_Silent_p.D494D|GDPD5_ENST00000376282.3_Silent_p.D375D|GDPD5_ENST00000336898.3_Silent_p.D494D	p.D356D			Q8WTR4	GDPD5_HUMAN			11	2946	-			494			GDPD.		Q49AQ5|Q6UX76|Q7Z4S0|Q8N781|Q8NCB7|Q8TB77	Silent	SNP	ENST00000336898.3	37	c.1068C>T	CCDS8238.1																																																																																				0.602	GDPD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384409.1	NM_030792		35	62	0	0	0	0.779181	0	35	62					A	75150998	G	A	75150998	2	1	99	1	0	0	0	0	0	0	0	1	6327	1136	40	1		1	GDPD5	11	75150998	Silent	SNP	G	TCGA-EJ-7788-01A-11D-2114-08	6403443	75150998	59855518	20	5553											
DLG2	1740	broad.mit.edu	37	chr11	83243769	83243769	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acccctttcgaatcaatcacTccaggtttggcattaaactt	11	13	5	12	1	2	0	2	0	0	0	4	1	3	0	3	2	1	2	3	2	4	4			TCGA-EJ-7788-01A-11D-2114-08	TCGA-EJ-7788-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea80f854-fec4-4811-9bec-038808522568	8dc89778-02e1-41c1-9b74-554f60f86c4d	g.chr11:83243769T>C	ENST00000532653.1	-	16	2162	c.1860A>G	c.(1858-1860)ggA>ggG	p.G620G	DLG2_ENST00000398304.1_Silent_p.G102G|DLG2_ENST00000398309.2_Silent_p.G620G|DLG2_ENST00000376106.3_Silent_p.G102G|DLG2_ENST00000330014.6_Silent_p.G559G|DLG2_ENST00000426717.2_Silent_p.G102G|DLG2_ENST00000418306.2_Silent_p.G517G|DLG2_ENST00000280241.8_Silent_p.G659G|DLG2_ENST00000530800.1_Silent_p.G129G|DLG2_ENST00000404783.3_Silent_p.G102G|DLG2_ENST00000537455.1_Silent_p.G374G|DLG2_ENST00000543673.1_Silent_p.G725G|DLG2_ENST00000524982.1_Silent_p.G620G|DLG2_ENST00000531015.1_Silent_p.G587G|DLG2_ENST00000376104.2_Silent_p.G725G			Q14168	MPP2_HUMAN	discs, large homolog 2 (Drosophila)	331					nucleotide phosphorylation (GO:0046939)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	guanylate kinase activity (GO:0004385)			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(11)|lung(35)|ovary(3)|pancreas(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	71		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)				AATCAATCACTCCAGGTTTGG	0.398																																						ENST00000398309.2																			0				breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(11)|lung(35)|ovary(3)|pancreas(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	71						c.(1858-1860)ggA>ggG		discs, large homolog 2 (Drosophila)							191	174	179					11																	83243769		1877	4108	5985	SO:0001819	synonymous_variant	1740					cell junction|postsynaptic density|postsynaptic membrane	guanylate kinase activity|protein binding	g.chr11:83243769T>C	U32376	CCDS41696.1, CCDS44690.1, CCDS44691.1, CCDS44692.1, CCDS55782.1, CCDS73357.1	11q21	2012-04-17	2008-12-15		ENSG00000150672	ENSG00000150672		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	2901	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 58"	603583	"discs, large homolog 2, chapsyn-110 (Drosophila)"			8755482, 9806853	Standard	NM_001142702		Approved	PSD-93, PSD93, chapsyn-110, PPP1R58	uc001pak.2	Q15700	OTTHUMG00000134309	ENST00000532653.1:c.1860A>G	11.37:g.83243769T>C						DLG2_ENST00000530800.1_Silent_p.G129G|DLG2_ENST00000426717.2_Silent_p.G102G|DLG2_ENST00000531015.1_Silent_p.G587G|DLG2_ENST00000418306.2_Silent_p.G517G|DLG2_ENST00000404783.3_Silent_p.G102G|DLG2_ENST00000330014.6_Silent_p.G559G|DLG2_ENST00000398304.1_Silent_p.G102G|DLG2_ENST00000543673.1_Silent_p.G725G|DLG2_ENST00000376104.2_Silent_p.G725G|DLG2_ENST00000376106.3_Silent_p.G102G|DLG2_ENST00000537455.1_Silent_p.G374G|DLG2_ENST00000280241.8_Silent_p.G659G|DLG2_ENST00000532653.1_Silent_p.G620G|DLG2_ENST00000524982.1_Silent_p.G620G	p.G620G	NM_001364.3	NP_001355.2	Q15700	DLG2_HUMAN			16	2330	-		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)	620					B4DGE9|B4DRJ0|B7Z3G8|E7EV80|E7EV91|E7EX01|Q53ES9|Q5CZB9|Q9BQJ2	Silent	SNP	ENST00000532653.1	37	c.1860A>G																																																																																					0.398	DLG2-009	NOVEL	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000259253.2	NM_001364		40	57	0	0	0	0.870114	0	40	57					C	83243769	T	C	83243769	2	2	99	1	0	0	0	0	0	0	0	1	4555	1538	54	4		4	DLG2	11	83243769	Silent	SNP	T	TCGA-EJ-7788-01A-11D-2114-08	8092771	83243769	51762747	21	5554											
TYR	7299	broad.mit.edu	37	chr11	89028439	89028439	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tggcagggcttgtgagcttgCtgtgtcgtcacaagagaaag	9	10	15	7	1	1	2	1	1	0	1	2	3	1	2	0	2	2	4	0	2	2	2	rs374029536		TCGA-EJ-7788-01A-11D-2114-08	TCGA-EJ-7788-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea80f854-fec4-4811-9bec-038808522568	8dc89778-02e1-41c1-9b74-554f60f86c4d	g.chr11:89028439C>T	ENST00000263321.5	+	5	1997	c.1495C>T	c.(1495-1497)Ctg>Ttg	p.L499L		NM_000372.4	NP_000363.1	P14679	TYRO_HUMAN	tyrosinase	499					cell proliferation (GO:0008283)|eye pigment biosynthetic process (GO:0006726)|melanin biosynthetic process from tyrosine (GO:0006583)|thymus development (GO:0048538)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|Golgi-associated vesicle (GO:0005798)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|melanosome (GO:0042470)|perinuclear region of cytoplasm (GO:0048471)	copper ion binding (GO:0005507)|monophenol monooxygenase activity (GO:0004503)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48		Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.0033)			Azelaic Acid(DB00548)|Mimosine(DB01055)|Monobenzone(DB00600)	TGTGAGCTTGCTGTGTCGTCA	0.537																																						ENST00000263321.5																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						c.(1495-1497)Ctg>Ttg		tyrosinase	Azelaic Acid(DB00548)|Mimosine(DB01055)|NADH(DB00157)	C		0,4400		0,0,2200	28	30	29		1495	2.1	0	11		29	1,8591	1.2+/-3.3	0,1,4295	no	coding-synonymous	TYR	NM_000372.4		0,1,6495	TT,TC,CC		0.0116,0.0,0.0077		499/530	89028439	1,12991	2200	4296	6496	SO:0001819	synonymous_variant	7299				eye pigment biosynthetic process|melanin biosynthetic process from tyrosine|visual perception	Golgi-associated vesicle|integral to membrane|lysosome|melanosome membrane|perinuclear region of cytoplasm	copper ion binding|monophenol monooxygenase activity|protein heterodimerization activity|protein homodimerization activity	g.chr11:89028439C>T	M27160	CCDS8284.1	11q14.3	2013-09-27	2012-09-28		ENSG00000077498	ENSG00000077498	1.14.18.1		12442	protein-coding gene	gene with protein product	"oculocutaneous albinism IA"	606933					Standard	NM_000372		Approved	OCAIA, OCA1A, OCA1	uc001pcs.3	P14679	OTTHUMG00000167294	ENST00000263321.5:c.1495C>T	11.37:g.89028439C>T							p.L499L	NM_000372.4	NP_000363.1	P14679	TYRO_HUMAN			5	1997	+		Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.0033)	499					Q15675|Q15676|Q15680|Q8TAK4|Q9BYY0|Q9BZX1	Silent	SNP	ENST00000263321.5	37	c.1495C>T	CCDS8284.1																																																																																				0.537	TYR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394045.2	NM_000372		8	24	0	0	0	0.335167	0	8	24					T	89028439	C	T	89028439	2	4	99	1	0	0	0	0	0	0	0	1	16810	796	28	3		3	TYR	11	89028439	Silent	SNP	C	TCGA-EJ-7788-01A-11D-2114-08	5784670	89028439	45978077	22	5555											
CYP27B1	1594	broad.mit.edu	37	chr12	58158697	58158697	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctctgcctctcgccgctccAcgtgcctctgagctgcgtgg	2	10	11	18	4	3	1	0	1	3	0	5	1	4	1	5	1	4	2	5	1	0	0			TCGA-EJ-7788-01A-11D-2114-08	TCGA-EJ-7788-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea80f854-fec4-4811-9bec-038808522568	8dc89778-02e1-41c1-9b74-554f60f86c4d	g.chr12:58158697A>G	ENST00000228606.4	-	5	1012	c.803T>C	c.(802-804)gTg>gCg	p.V268A	CYP27B1_ENST00000546496.1_5'Flank	NM_000785.3	NP_000776.1	O15528	CP27B_HUMAN	cytochrome P450, family 27, subfamily B, polypeptide 1	268					bone mineralization (GO:0030282)|calcitriol biosynthetic process from calciol (GO:0036378)|calcium ion homeostasis (GO:0055074)|calcium ion transport (GO:0006816)|decidualization (GO:0046697)|G1 to G0 transition (GO:0070314)|negative regulation of calcidiol 1-monooxygenase activity (GO:0010956)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of vitamin D 24-hydroxylase activity (GO:0010980)|positive regulation of vitamin D receptor signaling pathway (GO:0070564)|regulation of bone mineralization (GO:0030500)|response to estrogen (GO:0043627)|response to interferon-gamma (GO:0034341)|response to lipopolysaccharide (GO:0032496)|response to vitamin D (GO:0033280)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D catabolic process (GO:0042369)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	calcidiol 1-monooxygenase activity (GO:0004498)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|urinary_tract(1)	15	all_cancers(7;8.09e-80)|Lung NSC(6;2.26e-27)|all_lung(6;1.99e-25)|all_epithelial(6;3.62e-18)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		GBM - Glioblastoma multiforme(5;1.97e-113)|all cancers(5;1.54e-78)|BRCA - Breast invasive adenocarcinoma(9;0.0294)		Alfacalcidol(DB01436)|Calcidiol(DB00146)|Corticotropin(DB01285)|Ergocalciferol(DB00153)	TCGCCGCTCCACGTGCCTCTG	0.607																																						ENST00000228606.4																			0				central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|urinary_tract(1)	15						c.(802-804)gTg>gCg		cytochrome P450, family 27, subfamily B, polypeptide 1	Calcidiol(DB00146)|Calcitriol(DB00136)|Ergocalciferol(DB00153)						75	71	73					12																	58158697		2203	4300	6503	SO:0001583	missense	1594				bone mineralization|calcium ion homeostasis|calcium ion transport|decidualization|G1 to G0 transition|hormone biosynthetic process|negative regulation of calcidiol 1-monooxygenase activity|negative regulation of cell growth|negative regulation of cell proliferation|positive regulation of keratinocyte differentiation|positive regulation of vitamin D 24-hydroxylase activity|positive regulation of vitamin D receptor signaling pathway|regulation of bone mineralization|response to estrogen stimulus|response to interferon-gamma|response to lipopolysaccharide|response to tumor necrosis factor|response to vitamin D|vitamin D biosynthetic process|xenobiotic metabolic process	mitochondrial outer membrane	calcidiol 1-monooxygenase activity|electron carrier activity|heme binding	g.chr12:58158697A>G	AB006987	CCDS8954.1	12q14.1	2013-11-13	2003-01-14		ENSG00000111012	ENSG00000111012		"Cytochrome P450s"	2606	protein-coding gene	gene with protein product	"VDDR I", "1alpha(OH)ase", "25-Hydroxyvitamin D3 1alpha-hydroxylase"	609506	"cytochrome P450, subfamily XXVIIB (25-hydroxyvitamin D-1-alpha-hydroxylase), polypeptide 1"	VDD1, PDDR		9295274, 9344864	Standard	NM_000785		Approved	CYP1, P450c1	uc001spz.1	O15528	OTTHUMG00000170457	ENST00000228606.4:c.803T>C	12.37:g.58158697A>G	ENSP00000228606:p.Val268Ala						p.V268A	NM_000785.3	NP_000776.1	O15528	CP27B_HUMAN	GBM - Glioblastoma multiforme(5;1.97e-113)|all cancers(5;1.54e-78)|BRCA - Breast invasive adenocarcinoma(9;0.0294)		5	1012	-	all_cancers(7;8.09e-80)|Lung NSC(6;2.26e-27)|all_lung(6;1.99e-25)|all_epithelial(6;3.62e-18)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		268					B2RC61|Q548T3	Missense_Mutation	SNP	ENST00000228606.4	37	c.803T>C	CCDS8954.1	.	.	.	.	.	.	.	.	.	.	A	14.44	2.535212	0.45176	.	.	ENSG00000111012	ENST00000228606;ENST00000546567	T;T	0.70869	-0.52;2.51	4.65	4.65	0.58169	.	0.065892	0.64402	D	0.000008	T	0.76499	0.3996	M	0.64997	1.995	0.38436	D	0.946587	P	0.36974	0.576	P	0.48738	0.588	T	0.81274	-0.1007	10	0.87932	D	0	-21.5057	13.1872	0.59688	1.0:0.0:0.0:0.0	.	268	O15528	CP27B_HUMAN	A	268;33	ENSP00000228606:V268A;ENSP00000449472:V33A	ENSP00000228606:V268A	V	-	2	0	CYP27B1	56444964	1.000000	0.71417	1.000000	0.80357	0.506000	0.33950	6.327000	0.72910	1.964000	0.57103	0.459000	0.35465	GTG		0.607	CYP27B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409248.1	NM_000785		41	84	0	0	0	0.870114	0	41	84					G	58158697	A	G	58158697	3	3	99	1	0	0	0	0	1	0	0	0	4159	159	6	4	743	4	CYP27B1	12	58158697	Missense_Mutation	SNP	A	TCGA-EJ-7788-01A-11D-2114-08		58158697	75693198	23	5556											
POSTN	10631	broad.mit.edu	37	chr13	38158190	38158190	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caagcctaattgggccacaaGatccgtgaaggtggtttgct	10	10	12	9	1	0	2	0	1	0	1	1	2	1	2	3	3	2	2	3	3	4	3			TCGA-EJ-7788-01A-11D-2114-08	TCGA-EJ-7788-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea80f854-fec4-4811-9bec-038808522568	8dc89778-02e1-41c1-9b74-554f60f86c4d	g.chr13:38158190G>T	ENST00000379747.4	-	9	1276	c.1159C>A	c.(1159-1161)Ctt>Att	p.L387I	POSTN_ENST00000379742.4_Missense_Mutation_p.L387I|POSTN_ENST00000379749.4_Missense_Mutation_p.L387I|POSTN_ENST00000379743.4_Missense_Mutation_p.L387I|POSTN_ENST00000541179.1_Missense_Mutation_p.L387I|POSTN_ENST00000541481.1_Missense_Mutation_p.L387I	NM_006475.2	NP_006466.2	Q15063	POSTN_HUMAN	periostin, osteoblast specific factor	387	FAS1 3. {ECO:0000255|PROSITE- ProRule:PRU00082, ECO:0000305}.				cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|regulation of Notch signaling pathway (GO:0008593)|skeletal system development (GO:0001501)|tissue development (GO:0009888)	proteinaceous extracellular matrix (GO:0005578)|trans-Golgi network (GO:0005802)	heparin binding (GO:0008201)			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(16)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	59		Lung NSC(96;2.09e-05)|Prostate(109;0.0513)|Breast(139;0.0538)|Lung SC(185;0.0743)		all cancers(112;2.48e-08)|Epithelial(112;2.78e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000853)|BRCA - Breast invasive adenocarcinoma(63;0.013)|GBM - Glioblastoma multiforme(144;0.0154)		TGGGCCACAAGATCCGTGAAG	0.438																																						ENST00000379747.4																			0				cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(16)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	59						c.(1159-1161)Ctt>Att		periostin, osteoblast specific factor							132	104	113					13																	38158190		2203	4300	6503	SO:0001583	missense	10631				cell adhesion|skeletal system development	proteinaceous extracellular matrix	heparin binding	g.chr13:38158190G>T	D13665	CCDS9364.1, CCDS45034.1, CCDS53864.1, CCDS66530.1, CCDS66531.1	13q13.3	2008-02-05			ENSG00000133110	ENSG00000133110			16953	protein-coding gene	gene with protein product		608777				8363580, 12235007	Standard	NM_006475		Approved	OSF-2, PN, periostin	uc001uwo.4	Q15063	OTTHUMG00000016751	ENST00000379747.4:c.1159C>A	13.37:g.38158190G>T	ENSP00000369071:p.Leu387Ile					POSTN_ENST00000379749.4_Missense_Mutation_p.L387I|POSTN_ENST00000541179.1_Missense_Mutation_p.L387I|POSTN_ENST00000541481.1_Missense_Mutation_p.L387I|POSTN_ENST00000379742.4_Missense_Mutation_p.L387I|POSTN_ENST00000379743.4_Missense_Mutation_p.L387I	p.L387I	NM_006475.2	NP_006466.2	Q15063	POSTN_HUMAN		all cancers(112;2.48e-08)|Epithelial(112;2.78e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000853)|BRCA - Breast invasive adenocarcinoma(63;0.013)|GBM - Glioblastoma multiforme(144;0.0154)	9	1276	-		Lung NSC(96;2.09e-05)|Prostate(109;0.0513)|Breast(139;0.0538)|Lung SC(185;0.0743)	387			FAS1 3.		B1ALD8|C0IMJ1|C0IMJ2|C0IMJ4|D2KRH7|F5H628|Q15064|Q29XZ0|Q3KPJ5|Q5VSY5|Q8IZF9	Missense_Mutation	SNP	ENST00000379747.4	37	c.1159C>A	CCDS9364.1	.	.	.	.	.	.	.	.	.	.	G	19.98	3.926630	0.73327	.	.	ENSG00000133110	ENST00000541179;ENST00000379749;ENST00000379747;ENST00000379743;ENST00000379742;ENST00000541481	D;D;D;D;D;D	0.92199	-2.99;-2.99;-2.99;-2.99;-2.99;-2.99	5.81	5.81	0.92471	FAS1 domain (4);	0.100828	0.64402	D	0.000002	D	0.94581	0.8254	L	0.54323	1.7	0.40477	D	0.980401	D;D;D;D;D;D;D	0.76494	0.999;0.998;0.975;0.999;0.992;0.97;0.975	D;D;P;D;D;P;P	0.85130	0.997;0.995;0.876;0.995;0.986;0.804;0.876	D	0.94256	0.7498	10	0.49607	T	0.09	-15.8209	14.2643	0.66107	0.0707:0.0:0.9293:0.0	.	387;387;387;387;387;387;387	C0IMJ4;F5H628;B1ALD8;Q15063-3;Q15063-4;Q15063-2;Q15063	.;.;.;.;.;.;POSTN_HUMAN	I	387	ENSP00000437959:L387I;ENSP00000369073:L387I;ENSP00000369071:L387I;ENSP00000369067:L387I;ENSP00000369066:L387I;ENSP00000437953:L387I	ENSP00000369066:L387I	L	-	1	0	POSTN	37056190	1.000000	0.71417	0.983000	0.44433	0.983000	0.72400	3.341000	0.52151	2.746000	0.94184	0.591000	0.81541	CTT		0.438	POSTN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000044566.2	NM_006475		12	34	1	0	7.03913e-09	0.411799	8.07769e-09	12	34					T	38158190	G	T	38158190	3	4	99	1	0	0	0	0	1	0	0	0	12259	942	33	5	1411	5	POSTN	13	38158190	Missense_Mutation	SNP	G	TCGA-EJ-7788-01A-11D-2114-08		38158190	77011688	24	5557											
CEBPE	1053	broad.mit.edu	37	chr14	23587880	23587880	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtgtgccacttggtactgcaGgggattgtagctgcctcggc	5	11	15	10	1	0	0	0	0	0	0	1	1	0	1	2	4	5	4	2	4	2	4			TCGA-EJ-7788-01A-11D-2114-08	TCGA-EJ-7788-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea80f854-fec4-4811-9bec-038808522568	8dc89778-02e1-41c1-9b74-554f60f86c4d	g.chr14:23587880G>A	ENST00000206513.5	-	1	945	c.421C>T	c.(421-423)Ctg>Ttg	p.L141L		NM_001805.3	NP_001796.2	Q15744	CEBPE_HUMAN	CCAAT/enhancer binding protein (C/EBP), epsilon	141					cellular response to lipopolysaccharide (GO:0071222)|cytokine biosynthetic process (GO:0042089)|defense response (GO:0006952)|defense response to bacterium (GO:0042742)|macrophage differentiation (GO:0030225)|phagocytosis (GO:0006909)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(1)	9	all_cancers(95;4.6e-05)			GBM - Glioblastoma multiforme(265;0.0064)		TGGTACTGCAGGGGATTGTAG	0.677																																					NSCLC(63;1230 1818 14565 22565)	ENST00000206513.5																			0				large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(1)	9						c.(421-423)Ctg>Ttg		CCAAT/enhancer binding protein (C/EBP), epsilon							25	26	25					14																	23587880		2202	4299	6501	SO:0001819	synonymous_variant	1053					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr14:23587880G>A		CCDS9589.1	14q11.2	2014-09-17			ENSG00000092067	ENSG00000092067		"basic leucine zipper proteins"	1836	protein-coding gene	gene with protein product		600749				8661101	Standard	NM_001805		Approved	CRP1	uc001wiv.2	Q15744	OTTHUMG00000028719	ENST00000206513.5:c.421C>T	14.37:g.23587880G>A							p.L141L	NM_001805.3	NP_001796.2	Q15744	CEBPE_HUMAN		GBM - Glioblastoma multiforme(265;0.0064)	1	945	-	all_cancers(95;4.6e-05)		141					Q15745|Q8IYI2|Q99803	Silent	SNP	ENST00000206513.5	37	c.421C>T	CCDS9589.1																																																																																				0.677	CEBPE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071716.2	NM_001805		15	21	0	0	0	0.539581	0	15	21					A	23587880	G	A	23587880	2	1	99	1	0	0	0	0	0	0	0	1	3202	991	35	3		3	CEBPE	14	23587880	Silent	SNP	G	TCGA-EJ-7788-01A-11D-2114-08		23587880	83761660	25	5558											
TPM1	7168	broad.mit.edu	37	chr15	63336341	63336341	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gctggagctggcagagaaaaAggccaccgatgtaagtgcac	13	5	14	9	1	0	1	0	0	0	1	0	4	0	2	2	3	2	5	2	3	3	1			TCGA-EJ-7788-01A-11D-2114-08	TCGA-EJ-7788-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea80f854-fec4-4811-9bec-038808522568	8dc89778-02e1-41c1-9b74-554f60f86c4d	g.chr15:63336341A>G	ENST00000403994.3	+	2	310	c.230A>G	c.(229-231)aAg>aGg	p.K77R	TPM1_ENST00000560445.1_Intron|RP11-244F12.3_ENST00000561241.1_RNA|TPM1_ENST00000267996.7_Intron|TPM1_ENST00000357980.4_Missense_Mutation_p.K119R|TPM1_ENST00000559397.1_Intron|TPM1_ENST00000358278.3_Missense_Mutation_p.K77R|TPM1_ENST00000559556.1_Missense_Mutation_p.K77R|TPM1_ENST00000288398.6_Missense_Mutation_p.K77R	NM_001018005.1	NP_001018005.1	P09493	TPM1_HUMAN	tropomyosin 1 (alpha)	77					cardiac muscle contraction (GO:0060048)|cellular component movement (GO:0006928)|cellular response to reactive oxygen species (GO:0034614)|cytoskeleton organization (GO:0007010)|in utero embryonic development (GO:0001701)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|negative regulation of cell migration (GO:0030336)|positive regulation of ATPase activity (GO:0032781)|positive regulation of cell adhesion (GO:0045785)|positive regulation of heart rate by epinephrine (GO:0003065)|positive regulation of stress fiber assembly (GO:0051496)|regulation of heart contraction (GO:0008016)|regulation of muscle contraction (GO:0006937)|ruffle organization (GO:0031529)|sarcomere organization (GO:0045214)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|wound healing (GO:0042060)	bleb (GO:0032059)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|filamentous actin (GO:0031941)|muscle thin filament tropomyosin (GO:0005862)|ruffle membrane (GO:0032587)|sarcomere (GO:0030017)|stress fiber (GO:0001725)	actin binding (GO:0003779)|cytoskeletal protein binding (GO:0008092)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)			endometrium(1)|large_intestine(1)|lung(2)	4						GCAGAGAAAAAGGCCACCGAT	0.542																																						ENST00000357980.4																			0				endometrium(1)|large_intestine(1)|lung(2)	4						c.(355-357)aAg>aGg		tropomyosin 1 (alpha)							71	73	72					15																	63336341		2203	4300	6503	SO:0001583	missense	7168				cardiac muscle contraction|cellular component movement|cellular response to reactive oxygen species|muscle filament sliding|negative regulation of cell migration|positive regulation of ATPase activity|positive regulation of cell adhesion|positive regulation of heart rate by epinephrine|positive regulation of stress fiber assembly|regulation of muscle contraction|ruffle organization|sarcomere organization|ventricular cardiac muscle tissue morphogenesis|wound healing	bleb|cytosol|muscle thin filament tropomyosin|ruffle membrane|stress fiber	actin binding|structural constituent of cytoskeleton|structural constituent of muscle	g.chr15:63336341A>G	AB209041	CCDS10181.1, CCDS32262.1, CCDS32263.1, CCDS32264.1, CCDS45273.1, CCDS58368.1, CCDS58369.1	15q22.1	2014-09-17			ENSG00000140416	ENSG00000140416		"Tropomyosins"	12010	protein-coding gene	gene with protein product		191010	"chromosome 15 open reading frame 13", "cardiomyopathy, hypertrophic 3"	C15orf13, CMH3		10343096, 8205619	Standard	XM_005254637		Approved		uc002all.3	P09493	OTTHUMG00000132803	ENST00000403994.3:c.230A>G	15.37:g.63336341A>G	ENSP00000385107:p.Lys77Arg					TPM1_ENST00000288398.6_Missense_Mutation_p.K77R|TPM1_ENST00000358278.3_Missense_Mutation_p.K77R|TPM1_ENST00000560445.1_Intron|TPM1_ENST00000267996.7_Intron|TPM1_ENST00000559556.1_Missense_Mutation_p.K77R|TPM1_ENST00000559397.1_Intron|TPM1_ENST00000403994.3_Missense_Mutation_p.K77R	p.K119R			P09493	TPM1_HUMAN			3	435	+			77					B7Z5T7|D9YZV2|D9YZV3|D9YZV8|P09494|P10469|Q6DV89|Q6DV90|Q7Z6L8|Q86W64|Q96IK2|Q9UCI1|Q9UCI2|Q9UCY9|Q9Y427	Missense_Mutation	SNP	ENST00000403994.3	37	c.356A>G	CCDS45273.1	.	.	.	.	.	.	.	.	.	.	A	25.1	4.606800	0.87157	.	.	ENSG00000140416	ENST00000288398;ENST00000358278;ENST00000403994;ENST00000357980	T;T;T;T	0.75367	-0.93;-0.93;-0.93;-0.93	5.84	5.84	0.93424	.	0.000000	0.51477	D	0.000082	T	0.65312	0.2679	N	0.21373	0.66	0.80722	D	1	B;B;B;B;B;B	0.24043	0.0;0.096;0.005;0.005;0.001;0.0	B;B;B;B;B;B	0.34093	0.007;0.175;0.062;0.02;0.043;0.007	T	0.60515	-0.7248	10	0.20046	T	0.44	-8.7034	15.393	0.74760	1.0:0.0:0.0:0.0	.	77;119;77;77;77;77	D9YZV4;Q6ZN40;D9YZV5;D9YZV3;D9YZV2;P09493	.;.;.;.;.;TPM1_HUMAN	R	77;77;77;119	ENSP00000288398:K77R;ENSP00000351022:K77R;ENSP00000385107:K77R;ENSP00000350667:K119R	ENSP00000288398:K77R	K	+	2	0	TPM1	61123394	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.962000	0.93254	2.234000	0.73211	0.402000	0.26972	AAG		0.542	TPM1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000417083.2	NM_001018004		3	78	0	0	0	0.150653	0	3	78					G	63336341	A	G	63336341	3	3	99	1	0	0	0	0	1	0	0	0	16402	72	3	4	366	4	TPM1	15	63336341	Missense_Mutation	SNP	A	TCGA-EJ-7788-01A-11D-2114-08		63336341	39195051	26	5559											
ACAN	176	broad.mit.edu	37	chr15	89391173	89391173	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgagcccccggaccccatgcGtgggtgacaaggacagcagc	9	4	14	14	2	0	2	0	2	0	0	0	4	0	4	4	3	4	1	4	3	1	0	rs62640041		TCGA-EJ-7788-01A-11D-2114-08	TCGA-EJ-7788-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea80f854-fec4-4811-9bec-038808522568	8dc89778-02e1-41c1-9b74-554f60f86c4d	g.chr15:89391173G>A	ENST00000561243.1	+	8	1636	c.1636G>A	c.(1636-1638)Gtg>Atg	p.V546M	ACAN_ENST00000439576.2_Missense_Mutation_p.V546M|ACAN_ENST00000558207.1_Missense_Mutation_p.V546M|ACAN_ENST00000559004.1_Missense_Mutation_p.V546M|ACAN_ENST00000352105.7_Missense_Mutation_p.V546M			P16112	PGCA_HUMAN	aggrecan	546	G2-B.|Link 3. {ECO:0000255|PROSITE- ProRule:PRU00323}.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)	carbohydrate binding (GO:0030246)|extracellular matrix structural constituent (GO:0005201)|hyaluronic acid binding (GO:0005540)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			GACCCCATGCGTGGGTGACAA	0.592																																						ENST00000439576.2																			0				NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93						c.(1636-1638)Gtg>Atg		aggrecan							81	86	84					15																	89391173		1972	4146	6118	SO:0001583	missense	176				cell adhesion		hyaluronic acid binding|sugar binding	g.chr15:89391173G>A	M55172	CCDS53970.1, CCDS53971.1	15q26.1	2013-05-07	2007-02-16	2007-02-16	ENSG00000157766	ENSG00000157766		"Immunoglobulin superfamily / V-set domain containing", "Proteoglycans / Extracellular Matrix : Hyalectans"	319	protein-coding gene	gene with protein product	"aggrecan proteoglycan"	155760	"chondroitin sulfate proteoglycan 1", "aggrecan 1"	MSK16, CSPG1, AGC1		1985970	Standard	NM_013227		Approved	CSPGCP	uc010upo.1	P16112	OTTHUMG00000171989	ENST00000561243.1:c.1636G>A	15.37:g.89391173G>A	ENSP00000453342:p.Val546Met					ACAN_ENST00000559004.1_Missense_Mutation_p.V546M|ACAN_ENST00000352105.7_Missense_Mutation_p.V546M|ACAN_ENST00000561243.1_Missense_Mutation_p.V546M|ACAN_ENST00000558207.1_Missense_Mutation_p.V546M	p.V546M	NM_013227.3	NP_037359.3	E7EX88	E7EX88_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.146)		9	2010	+	Lung NSC(78;0.0392)|all_lung(78;0.077)		546					Q13650|Q9UCD3|Q9UCP4|Q9UCP5|Q9UDE0	Missense_Mutation	SNP	ENST00000561243.1	37	c.1636G>A	CCDS53970.1	.	.	.	.	.	.	.	.	.	.	G	14.70	2.613155	0.46631	.	.	ENSG00000157766	ENST00000439576;ENST00000352105;ENST00000268134	T;T	0.09630	2.96;2.96	5.35	5.35	0.76521	.	.	.	.	.	T	0.22859	0.0552	L	0.43152	1.355	0.30688	N	0.75162	D;D;D	0.89917	1.0;1.0;0.992	D;D;P	0.73380	0.98;0.98;0.875	T	0.02844	-1.1103	9	0.41790	T	0.15	-15.6831	10.1807	0.42965	0.0912:0.0:0.9088:0.0	.	546;546;546	E7ENV9;E7EX88;Q6PID9	.;.;.	M	546	ENSP00000387356:V546M;ENSP00000341615:V546M	ENSP00000268134:V546M	V	+	1	0	ACAN	87192177	0.514000	0.26202	1.000000	0.80357	0.971000	0.66376	1.195000	0.32186	2.518000	0.84900	0.563000	0.77884	GTG		0.592	ACAN-006	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416267.2	NM_001135		10	76	0	0	0	0.411799	0	10	76					A	89391173	G	A	89391173	3	1	99	1	0	0	0	0	1	0	0	0	117	1145	40	1	1666	1	ACAN	15	89391173	Missense_Mutation	SNP	G	TCGA-EJ-7788-01A-11D-2114-08	26054832	89391173	13140219	27	5560											
CRAMP1L	57585	broad.mit.edu	37	chr16	1709961	1709961	+	Silent	SNP	G	G	A																															cagtcgatgacgcccccaggGaaggtggtgaccgtcagctc																										TCGA-EJ-7788-01A-11D-2114-08	TCGA-EJ-7788-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea80f854-fec4-4811-9bec-038808522568	8dc89778-02e1-41c1-9b74-554f60f86c4d	g.chr16:1709961G>A	ENST00000397412.3	+	11	2409	c.2310G>A	c.(2308-2310)ggG>ggA	p.G770G	CRAMP1L_ENST00000293925.5_Silent_p.G770G|CRAMP1L_ENST00000262317.4_Silent_p.G148G|LA16c-431H6.6_ENST00000454337.1_3'UTR|CRAMP1L_ENST00000436138.3_Silent_p.G767G			Q96RY5	CRML_HUMAN	Crm, cramped-like (Drosophila)	770						nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(6)|pancreas(1)	22						CGCCCCCAGGGAAGGTGGTGA	0.637																																						ENST00000397412.3																			0				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(6)|pancreas(1)	22						c.(2308-2310)ggG>ggA		Crm, cramped-like (Drosophila)							51	59	56					16																	1709961		2098	4220	6318	SO:0001819	synonymous_variant	57585					nucleus	DNA binding	g.chr16:1709961G>A	AB037847	CCDS10440.2	16p13.3	2008-07-30	2001-11-28		ENSG00000007545	ENSG00000007545			14122	protein-coding gene	gene with protein product			"Crm (Cramped Drosophila)-like"				Standard	NM_020825		Approved	KIAA1426	uc010uvh.2	Q96RY5	OTTHUMG00000074087	ENST00000397412.3:c.2310G>A	16.37:g.1709961G>A						LA16c-431H6.6_ENST00000454337.1_3'UTR|CRAMP1L_ENST00000436138.3_Silent_p.G767G|CRAMP1L_ENST00000293925.5_Silent_p.G770G|CRAMP1L_ENST00000262317.4_Silent_p.G148G	p.G770G			Q96RY5	CRML_HUMAN			11	2409	+			770					A8MZL1|B1AJY1|Q8NDN1|Q9P2C1	Silent	SNP	ENST00000397412.3	37	c.2310G>A	CCDS10440.2																																																																																				0.637	CRAMP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157297.4			18	35	0	0	0	0.639603	0	18	35					A	1709961	G	A	1709961	2	1	99	1	0	0	0	0	0	0	0	1	3846	1161	41	3		3	CRAMP1L	16	1709961	Silent	SNP	G	TCGA-EJ-7788-01A-11D-2114-08		1709961	88644792	28	5561	29	2									
CRAMP1L	57585	broad.mit.edu	37	chr16	1709962	1709962	+	Missense_Mutation	SNP	A	A	G																															agtcgatgacgcccccagggAaggtggtgaccgtcagctct																										TCGA-EJ-7788-01A-11D-2114-08	TCGA-EJ-7788-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea80f854-fec4-4811-9bec-038808522568	8dc89778-02e1-41c1-9b74-554f60f86c4d	g.chr16:1709962A>G	ENST00000397412.3	+	11	2410	c.2311A>G	c.(2311-2313)Aag>Gag	p.K771E	CRAMP1L_ENST00000293925.5_Missense_Mutation_p.K771E|CRAMP1L_ENST00000262317.4_Missense_Mutation_p.K149E|LA16c-431H6.6_ENST00000454337.1_3'UTR|CRAMP1L_ENST00000436138.3_Missense_Mutation_p.K768E			Q96RY5	CRML_HUMAN	Crm, cramped-like (Drosophila)	771						nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(6)|pancreas(1)	22						GCCCCCAGGGAAGGTGGTGAC	0.637																																						ENST00000397412.3																			0				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(6)|pancreas(1)	22						c.(2311-2313)Aag>Gag		Crm, cramped-like (Drosophila)							51	59	56					16																	1709962		2099	4221	6320	SO:0001583	missense	57585					nucleus	DNA binding	g.chr16:1709962A>G	AB037847	CCDS10440.2	16p13.3	2008-07-30	2001-11-28		ENSG00000007545	ENSG00000007545			14122	protein-coding gene	gene with protein product			"Crm (Cramped Drosophila)-like"				Standard	NM_020825		Approved	KIAA1426	uc010uvh.2	Q96RY5	OTTHUMG00000074087	ENST00000397412.3:c.2311A>G	16.37:g.1709962A>G	ENSP00000380559:p.Lys771Glu					LA16c-431H6.6_ENST00000454337.1_3'UTR|CRAMP1L_ENST00000436138.3_Missense_Mutation_p.K768E|CRAMP1L_ENST00000293925.5_Missense_Mutation_p.K771E|CRAMP1L_ENST00000262317.4_Missense_Mutation_p.K149E	p.K771E			Q96RY5	CRML_HUMAN			11	2410	+			771					A8MZL1|B1AJY1|Q8NDN1|Q9P2C1	Missense_Mutation	SNP	ENST00000397412.3	37	c.2311A>G	CCDS10440.2	.	.	.	.	.	.	.	.	.	.	A	20.9	4.071867	0.76301	.	.	ENSG00000007545	ENST00000397412;ENST00000293925;ENST00000436138;ENST00000262317	.	.	.	4.8	4.8	0.61643	.	0.000000	0.85682	D	0.000000	T	0.76550	0.4003	M	0.72118	2.19	0.44762	D	0.997768	D	0.76494	0.999	D	0.69142	0.962	T	0.79027	-0.1971	9	0.56958	D	0.05	-34.0969	14.5029	0.67734	1.0:0.0:0.0:0.0	.	771	Q96RY5	CRML_HUMAN	E	771;771;768;149	.	ENSP00000262317:K149E	K	+	1	0	CRAMP1L	1649963	1.000000	0.71417	0.998000	0.56505	0.430000	0.31655	7.933000	0.87642	2.017000	0.59298	0.459000	0.35465	AAG		0.637	CRAMP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157297.4			18	34	0	0	0	0.654019	0	18	34					G	1709962	A	G	1709962	3	3	99	1	0	0	0	0	1	0	0	0	3846	247	9	4	2349	4	CRAMP1L	16	1709962	Missense_Mutation	SNP	A	TCGA-EJ-7788-01A-11D-2114-08	1	1709962	88644791	29	5562	29	2									
CBLN1	869	broad.mit.edu	37	chr16	49314902	49314902	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtagatccctttgcgcggggCgatgaaagtgctgcgttctg	6	11	15	9	4	1	2	0	1	1	1	2	3	2	2	1	2	3	3	1	2	2	3			TCGA-EJ-7788-01A-11D-2114-08	TCGA-EJ-7788-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea80f854-fec4-4811-9bec-038808522568	8dc89778-02e1-41c1-9b74-554f60f86c4d	g.chr16:49314902C>A	ENST00000219197.6	-	2	681	c.316G>T	c.(316-318)Gcc>Tcc	p.A106S	CBLN1_ENST00000536749.1_Missense_Mutation_p.A106S	NM_004352.3	NP_004343.1	P23435	CBLN1_HUMAN	cerebellin 1 precursor	106	C1q. {ECO:0000255|PROSITE- ProRule:PRU00368}.|Necessary for interaction with CBLN3, and homotrimerization. {ECO:0000250}.				cerebellar granule cell differentiation (GO:0021707)|heterophilic cell-cell adhesion (GO:0007157)|nervous system development (GO:0007399)|positive regulation of synapse assembly (GO:0051965)|protein secretion (GO:0009306)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|extracellular region (GO:0005576)|postsynaptic membrane (GO:0045211)				breast(1)|kidney(3)|large_intestine(2)|lung(3)	9		all_cancers(37;0.0766)|all_lung(18;0.24)				TTGCGCGGGGCGATGAAAGTG	0.542																																						ENST00000219197.6																			0				breast(1)|kidney(3)|large_intestine(2)|lung(3)	9						c.(316-318)Gcc>Tcc		cerebellin 1 precursor							131	125	127					16																	49314902		2200	4300	6500	SO:0001583	missense	869				nervous system development|synaptic transmission	cell junction|extracellular region|synapse		g.chr16:49314902C>A	M58583	CCDS10736.1	16q12.1	2008-02-05			ENSG00000102924	ENSG00000102924			1543	protein-coding gene	gene with protein product		600432				7877445, 1704129	Standard	NM_004352		Approved		uc002efq.3	P23435	OTTHUMG00000133148	ENST00000219197.6:c.316G>T	16.37:g.49314902C>A	ENSP00000219197:p.Ala106Ser					CBLN1_ENST00000536749.1_Missense_Mutation_p.A106S	p.A106S	NM_004352.3	NP_004343.1	P23435	CBLN1_HUMAN			2	681	-		all_cancers(37;0.0766)|all_lung(18;0.24)	106			C1q.|Necessary for interaction with CBLN3, and homotrimerization (By similarity).		B2RAN9|P02682|Q52M09	Missense_Mutation	SNP	ENST00000219197.6	37	c.316G>T	CCDS10736.1	.	.	.	.	.	.	.	.	.	.	C	14.96	2.690447	0.48097	.	.	ENSG00000102924	ENST00000219197;ENST00000536749	T;T	0.77877	-1.13;-1.13	4.33	3.3	0.37823	Tumour necrosis factor-like (2);Complement C1q protein (4);	0.121554	0.56097	D	0.000039	T	0.73164	0.3552	L	0.60455	1.87	0.47276	D	0.999377	B	0.28128	0.201	B	0.31016	0.123	T	0.73173	-0.4066	10	0.39692	T	0.17	-15.3425	12.5965	0.56472	0.2532:0.7468:0.0:0.0	.	106	P23435	CBLN1_HUMAN	S	106	ENSP00000219197:A106S;ENSP00000444651:A106S	ENSP00000219197:A106S	A	-	1	0	CBLN1	47872403	0.996000	0.38824	1.000000	0.80357	0.954000	0.61252	1.381000	0.34362	2.253000	0.74438	0.462000	0.41574	GCC		0.542	CBLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256845.4	NM_004352		30	57	1	0	1.45844e-13	0.769981	1.73035e-13	30	57					A	49314902	C	A	49314902	3	1	99	1	0	0	0	0	1	0	0	0	2704	768	27	5	273	5	CBLN1	16	49314902	Missense_Mutation	SNP	C	TCGA-EJ-7788-01A-11D-2114-08	47604940	49314902	41039851	30	5563											
FOXC2	2303	broad.mit.edu	37	chr16	86601138	86601138	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaccaccaccagcccgcggCgcctaaggacctggtgaagc	9	3	11	18	3	0	1	0	1	0	0	0	2	0	2	7	3	2	0	7	3	2	1			TCGA-EJ-7788-01A-11D-2114-08	TCGA-EJ-7788-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea80f854-fec4-4811-9bec-038808522568	8dc89778-02e1-41c1-9b74-554f60f86c4d	g.chr16:86601138C>T	ENST00000320354.4	+	1	282	c.197C>T	c.(196-198)gCg>gTg	p.A66V	RP11-463O9.5_ENST00000563280.1_RNA	NM_005251.2	NP_005242.1	Q99958	FOXC2_HUMAN	forkhead box C2 (MFH-1, mesenchyme forkhead 1)	66					artery morphogenesis (GO:0048844)|blood vessel remodeling (GO:0001974)|camera-type eye development (GO:0043010)|cardiac muscle cell proliferation (GO:0060038)|collagen fibril organization (GO:0030199)|embryonic heart tube development (GO:0035050)|embryonic viscerocranium morphogenesis (GO:0048703)|glomerular endothelium development (GO:0072011)|glomerular mesangial cell development (GO:0072144)|glomerular visceral epithelial cell differentiation (GO:0072112)|heart development (GO:0007507)|insulin receptor signaling pathway (GO:0008286)|lymphangiogenesis (GO:0001946)|mesoderm development (GO:0007498)|metanephros development (GO:0001656)|negative regulation of apoptotic process involved in outflow tract morphogenesis (GO:1902257)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural crest cell development (GO:0014032)|Notch signaling pathway (GO:0007219)|ossification (GO:0001503)|paraxial mesodermal cell fate commitment (GO:0048343)|patterning of blood vessels (GO:0001569)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cell migration involved in sprouting angiogenesis (GO:0090050)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of vascular wound healing (GO:0035470)|regulation of blood vessel size (GO:0050880)|regulation of organ growth (GO:0046620)|response to hormone (GO:0009725)|somitogenesis (GO:0001756)|ureteric bud development (GO:0001657)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	15						CAGCCCGCGGCGCCTAAGGAC	0.657									Late-onset Hereditary Lymphedema																													ENST00000320354.4																			0				breast(1)|cervix(1)|endometrium(2)|kidney(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	15						c.(196-198)gCg>gTg		forkhead box C2 (MFH-1, mesenchyme forkhead 1)							51	54	53					16																	86601138		2198	4300	6498	SO:0001583	missense	2303	Late-onset Hereditary Lymphedema	Familial Cancer Database	Hereditary Lymphedema type II, Meige Lymphedema	anti-apoptosis|artery morphogenesis|blood vessel remodeling|camera-type eye development|cardiac muscle cell proliferation|collagen fibril organization|embryonic heart tube development|embryonic viscerocranium morphogenesis|insulin receptor signaling pathway|lymphangiogenesis|metanephros development|negative regulation of transcription from RNA polymerase II promoter|neural crest cell fate commitment|Notch signaling pathway|ossification|paraxial mesodermal cell fate commitment|patterning of blood vessels|positive regulation of cell adhesion mediated by integrin|positive regulation of cell migration involved in sprouting angiogenesis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of vascular wound healing|regulation of blood vessel size|regulation of organ growth|regulation of sequence-specific DNA binding transcription factor activity|somitogenesis|ureteric bud development|vascular endothelial growth factor receptor signaling pathway|vasculogenesis|ventricular cardiac muscle tissue morphogenesis	transcription factor complex	chromatin DNA binding|DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding|transcription regulatory region DNA binding	g.chr16:86601138C>T	Y08223	CCDS10958.1	16q24.1	2008-04-10			ENSG00000176692	ENSG00000176692		"Forkhead boxes"	3801	protein-coding gene	gene with protein product		602402		FKHL14		9169153, 8674414	Standard	NM_005251		Approved	MFH-1	uc002fjq.3	Q99958	OTTHUMG00000137652	ENST00000320354.4:c.197C>T	16.37:g.86601138C>T	ENSP00000326371:p.Ala66Val					RP11-463O9.5_ENST00000563280.1_RNA	p.A66V	NM_005251.2	NP_005242.1	Q99958	FOXC2_HUMAN			1	282	+			66					C6KMR9|Q14DA6	Missense_Mutation	SNP	ENST00000320354.4	37	c.197C>T	CCDS10958.1	.	.	.	.	.	.	.	.	.	.	C	18.85	3.710485	0.68730	.	.	ENSG00000176692	ENST00000320354	D	0.95272	-3.66	4.14	4.14	0.48551	Winged helix-turn-helix transcription repressor DNA-binding (1);	0.114641	0.36778	U	0.002402	D	0.90463	0.7013	L	0.47716	1.5	0.48901	D	0.999724	D	0.55605	0.972	B	0.37989	0.262	D	0.89997	0.4112	10	0.32370	T	0.25	.	15.2227	0.73327	0.0:1.0:0.0:0.0	.	66	Q99958	FOXC2_HUMAN	V	66	ENSP00000326371:A66V	ENSP00000326371:A66V	A	+	2	0	FOXC2	85158639	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.290000	0.51755	2.145000	0.66743	0.650000	0.86243	GCG		0.657	FOXC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269104.2	NM_005251		21	48	0	0	0	0.667858	0	21	48					T	86601138	C	T	86601138	3	4	99	1	0	0	0	0	1	0	0	0	5995	768	27	1	199	1	FOXC2	16	86601138	Missense_Mutation	SNP	C	TCGA-EJ-7788-01A-11D-2114-08	37286236	86601138	3753615	31	5564											
RALBP1	10928	broad.mit.edu	37	chr18	9522268	9522268	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtttgctgaagcagtatttgCgagaccttccagagaatttg	10	13	11	7	1	0	3	0	1	0	2	1	5	1	3	2	0	3	4	2	0	3	5			TCGA-EJ-7788-01A-11D-2114-08	TCGA-EJ-7788-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea80f854-fec4-4811-9bec-038808522568	8dc89778-02e1-41c1-9b74-554f60f86c4d	g.chr18:9522268C>T	ENST00000019317.4	+	4	1037	c.814C>T	c.(814-816)Cga>Tga	p.R272*	RALBP1_ENST00000383432.3_Nonsense_Mutation_p.R272*|RP11-61L19.3_ENST00000609094.1_RNA			Q15311	RBP1_HUMAN	ralA binding protein 1	272	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				ATP catabolic process (GO:0006200)|chemotaxis (GO:0006935)|positive regulation of Cdc42 GTPase activity (GO:0043089)|regulation of GTPase activity (GO:0043087)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|transport (GO:0006810)	cytosol (GO:0005829)|membrane (GO:0016020)	ATPase activity (GO:0016887)|ATPase activity, coupled to movement of substances (GO:0043492)|GTPase activator activity (GO:0005096)|Rac GTPase activator activity (GO:0030675)|Rac GTPase binding (GO:0048365)|Ral GTPase binding (GO:0017160)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(3)|upper_aerodigestive_tract(1)	14					Carbamazepine(DB00564)|Doxorubicin(DB00997)|Sorafenib(DB00398)|Vincristine(DB00541)	GCAGTATTTGCGAGACCTTCC	0.483																																						ENST00000019317.4																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(3)|upper_aerodigestive_tract(1)	14						c.(814-816)Cga>Tga		ralA binding protein 1							84	82	83					18																	9522268		2203	4300	6503	SO:0001587	stop_gained	10928				chemotaxis|positive regulation of Cdc42 GTPase activity|small GTPase mediated signal transduction|transport	cytosol|membrane	ATPase activity, coupled to movement of substances|Rac GTPase activator activity|Rac GTPase binding|Ral GTPase binding	g.chr18:9522268C>T	L42542	CCDS11845.1	18p11.22	2006-04-22			ENSG00000017797	ENSG00000017797			9841	protein-coding gene	gene with protein product		605801				7673236	Standard	NM_006788		Approved	RLIP76, RIP1, RIP	uc002koc.3	Q15311	OTTHUMG00000131596	ENST00000019317.4:c.814C>T	18.37:g.9522268C>T	ENSP00000019317:p.Arg272*					RALBP1_ENST00000383432.3_Nonsense_Mutation_p.R272*	p.R272*			Q15311	RBP1_HUMAN			4	1037	+			272			Rho-GAP.		D3DUI0	Nonsense_Mutation	SNP	ENST00000019317.4	37	c.814C>T	CCDS11845.1	.	.	.	.	.	.	.	.	.	.	C	37	5.980709	0.97168	.	.	ENSG00000017797	ENST00000019317;ENST00000383432;ENST00000458039	.	.	.	5.08	1.95	0.26073	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-3.8308	13.513	0.61524	0.4076:0.5924:0.0:0.0	.	.	.	.	X	272	.	ENSP00000019317:R272X	R	+	1	2	RALBP1	9512268	1.000000	0.71417	0.984000	0.44739	0.996000	0.88848	3.816000	0.55658	0.586000	0.29626	0.460000	0.39030	CGA		0.483	RALBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254479.1	NM_006788		9	68	0	0	0	0.335167	0	9	68					T	9522268	C	T	9522268	4	4	99	1	0	0	0	0	0	1	0	0	13012	760	27	1	824	1	RALBP1	18	9522268	Nonsense_Mutation	SNP	C	TCGA-EJ-7788-01A-11D-2114-08		9522268	68554980	32	5565											
KRI1	65095	broad.mit.edu	37	chr19	10670558	10670558	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcctgtttcttcagaaacagCtccccttcgtctgaggagtc	7	13	8	13	1	3	2	1	1	2	1	7	3	5	3	3	1	2	2	3	1	1	3			TCGA-EJ-7788-01A-11D-2114-08	TCGA-EJ-7788-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea80f854-fec4-4811-9bec-038808522568	8dc89778-02e1-41c1-9b74-554f60f86c4d	g.chr19:10670558C>T	ENST00000312962.6	-	10	892	c.873G>A	c.(871-873)gaG>gaA	p.E291E	KRI1_ENST00000537964.1_5'Flank|KRI1_ENST00000361821.5_Silent_p.E287E	NM_023008.3	NP_075384.3	Q8N9T8	KRI1_HUMAN	KRI1 homolog (S. cerevisiae)	285	Glu-rich.					nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	26			Epithelial(33;9.2e-06)|all cancers(31;3.9e-05)			TCAGAAACAGCTCCCCTTCGT	0.592																																						ENST00000312962.6																			0				NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	26						c.(871-873)gaG>gaA		KRI1 homolog (S. cerevisiae)							56	59	58					19																	10670558		2203	4300	6503	SO:0001819	synonymous_variant	65095							g.chr19:10670558C>T		CCDS12242.1	19p13.2	2008-02-05			ENSG00000129347	ENSG00000129347			25769	protein-coding gene	gene with protein product						12878157	Standard	NM_023008		Approved	FLJ12949	uc002moy.1	Q8N9T8	OTTHUMG00000150343	ENST00000312962.6:c.873G>A	19.37:g.10670558C>T						KRI1_ENST00000361821.5_Silent_p.E287E	p.E291E	NM_023008.3	NP_075384.3	Q8N9T8	KRI1_HUMAN	Epithelial(33;9.2e-06)|all cancers(31;3.9e-05)		10	892	-			291			Glu-rich.		Q2M1R5|Q2M1R7|Q7L5J7|Q96G92|Q9BU50|Q9H6I1|Q9H978	Silent	SNP	ENST00000312962.6	37	c.873G>A	CCDS12242.1																																																																																				0.592	KRI1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317705.1	NM_023008		11	27	0	0	0	0.361761	0	11	27					T	10670558	C	T	10670558	2	4	99	1	0	0	0	0	0	0	0	1	8444	796	28	3		3	KRI1	19	10670558	Silent	SNP	C	TCGA-EJ-7788-01A-11D-2114-08		10670558	48458425	33	5566											
MED26	9441	broad.mit.edu	37	chr19	16688490	16688490	+	Frame_Shift_Del	DEL	T	T	-																															gatgagcttcccaagtcgtgTttcctacaaccagagggaga																										TCGA-EJ-7788-01A-11D-2114-08	TCGA-EJ-7788-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea80f854-fec4-4811-9bec-038808522568	8dc89778-02e1-41c1-9b74-554f60f86c4d	g.chr19:16688490delT	ENST00000263390.3	-	3	413	c.151delA	c.(151-153)acafs	p.T51fs	CTD-3222D19.2_ENST00000409035.1_Frame_Shift_Del_p.T59fs|CTC-429P9.4_ENST00000593962.1_5'UTR	NM_004831.3	NP_004822.2	O95402	MED26_HUMAN	mediator complex subunit 26	51	TFIIS N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00649}.				gene expression (GO:0010467)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|RNA polymerase II transcription cofactor activity (GO:0001104)|transcription coactivator activity (GO:0003713)			endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|skin(1)	8						CCAAGTCGTGTTTCCTACAAC	0.537																																						ENST00000263390.3																			0				endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|skin(1)	8						c.(151-153)cafs		mediator complex subunit 26							39	42	41					19																	16688490		2203	4300	6503	SO:0001589	frameshift_variant	9441				regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	DNA binding|RNA polymerase II transcription cofactor activity|transcription coactivator activity	g.chr19:16688490delT	AF104253	CCDS12347.1	19p13.11	2008-02-05	2007-07-30	2007-07-30		ENSG00000105085			2376	protein-coding gene	gene with protein product		605043	"cofactor required for Sp1 transcriptional activation, subunit 7, 70kDa"	CRSP7		9989412	Standard	NM_004831		Approved	CRSP70	uc002nen.1	O95402		ENST00000263390.3:c.151delA	19.37:g.16688490delT	ENSP00000263390:p.Thr51fs					CTD-3222D19.2_ENST00000409035.1_Frame_Shift_Del_p.T59fs|CTC-429P9.4_ENST00000593962.1_5'UTR	p.T51fs	NM_004831.3	NP_004822.2	O95402	MED26_HUMAN			3	413	-			51			TFIIS N-terminal.		A1A4S3|Q0VGB6	Frame_Shift_Del	DEL	ENST00000263390.3	37	c.151delA	CCDS12347.1																																																																																				0.537	MED26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461178.1	NM_004831		23	44						23	44	---	---	---	---	-	16688490	T	-	16688490	7	5	99	1	0	1	0	1	0	0	0	0	9444	1725	60	0	1655	0	MED26	19	16688490	Frame_Shift_Del	DEL	T	TCGA-EJ-7788-01A-11D-2114-08	6017932	16688490	42440493	34	5567											
ZNF615	284370	broad.mit.edu	37	chr19	52498074	52498074	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagtgatgctgcagaggatcAtcaattttcctgatttctag	11	14	9	7	0	3	3	2	2	1	1	4	4	4	4	1	1	2	2	1	1	3	4			TCGA-EJ-7788-01A-11D-2114-08	TCGA-EJ-7788-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea80f854-fec4-4811-9bec-038808522568	8dc89778-02e1-41c1-9b74-554f60f86c4d	g.chr19:52498074A>T	ENST00000602063.1	-	6	604	c.255T>A	c.(253-255)gaT>gaA	p.D85E	ZNF615_ENST00000598071.1_Missense_Mutation_p.D96E|ZNF615_ENST00000594083.1_Missense_Mutation_p.D96E|ZNF615_ENST00000391795.3_Missense_Mutation_p.D90E|ZNF615_ENST00000376716.5_Missense_Mutation_p.D85E			Q8N8J6	ZN615_HUMAN	zinc finger protein 615	85					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(5)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	42		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.00142)|OV - Ovarian serous cystadenocarcinoma(262;0.019)		GCAGAGGATCATCAATTTTCC	0.328																																						ENST00000602063.1																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(5)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	42						c.(253-255)gaT>gaA		zinc finger protein 615							56	53	54					19																	52498074		2203	4300	6503	SO:0001583	missense	284370				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52498074A>T	AK096691	CCDS12846.1, CCDS59418.1	19q13.41	2013-01-08						"Zinc fingers, C2H2-type", "-"	24740	protein-coding gene	gene with protein product						12477932	Standard	NM_001199324		Approved	FLJ33710	uc002pyf.2	Q8N8J6		ENST00000602063.1:c.255T>A	19.37:g.52498074A>T	ENSP00000473089:p.Asp85Glu					ZNF615_ENST00000391795.3_Missense_Mutation_p.D90E|ZNF615_ENST00000594083.1_Missense_Mutation_p.D96E|ZNF615_ENST00000598071.1_Missense_Mutation_p.D96E|ZNF615_ENST00000376716.5_Missense_Mutation_p.D85E	p.D85E			Q8N8J6	ZN615_HUMAN		GBM - Glioblastoma multiforme(134;0.00142)|OV - Ovarian serous cystadenocarcinoma(262;0.019)	6	604	-		all_neural(266;0.117)	85					B7ZKW9|Q2M2Y6|Q5CZB0|Q6ZMT7|Q6ZRB3	Missense_Mutation	SNP	ENST00000602063.1	37	c.255T>A	CCDS12846.1	.	.	.	.	.	.	.	.	.	.	A	14.47	2.545571	0.45280	.	.	ENSG00000197619	ENST00000376716;ENST00000354939;ENST00000391795;ENST00000391793	T;T	0.07444	3.22;3.19	3.31	3.31	0.37934	.	.	.	.	.	T	0.05044	0.0135	L	0.28400	0.85	0.09310	N	1	B;B;B;B	0.27732	0.118;0.187;0.187;0.118	B;B;B;B	0.27500	0.037;0.08;0.08;0.037	T	0.40403	-0.9565	9	0.06236	T	0.91	.	5.2434	0.15483	0.8678:0.0:0.1322:0.0	.	90;92;96;85	B4DH87;Q8N8J6-3;Q8N8J6-2;Q8N8J6	.;.;.;ZN615_HUMAN	E	85;95;90;95	ENSP00000365906:D85E;ENSP00000375672:D90E	ENSP00000347019:D95E	D	-	3	2	ZNF615	57189886	0.000000	0.05858	0.004000	0.12327	0.509000	0.34042	0.144000	0.16135	1.502000	0.48669	0.533000	0.62120	GAT		0.328	ZNF615-009	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462391.1	NM_198480		6	37	0	0	0	0.27861	0	6	37					T	52498074	A	T	52498074	3	4	99	1	0	0	0	0	1	0	0	0	18037	214	8	5	1944	5	ZNF615	19	52498074	Missense_Mutation	SNP	A	TCGA-EJ-7788-01A-11D-2114-08	35809584	52498074	6630909	35	5568											
STK35	140901	broad.mit.edu	37	chr20	2097968	2097968	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tagctgctaacccacaggacCggcctgatgcctttgaactt	9	10	9	13	1	0	2	0	2	0	0	0	3	0	3	4	2	5	2	4	2	3	4			TCGA-EJ-7788-01A-11D-2114-08	TCGA-EJ-7788-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea80f854-fec4-4811-9bec-038808522568	8dc89778-02e1-41c1-9b74-554f60f86c4d	g.chr20:2097968C>T	ENST00000381482.3	+	3	1820	c.1549C>T	c.(1549-1551)Cgg>Tgg	p.R517W	STK35_ENST00000246032.3_Missense_Mutation_p.R384W|STK35_ENST00000400064.3_Intron			Q8TDR2	STK35_HUMAN	serine/threonine kinase 35	517	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.					cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			large_intestine(2)|liver(2)|lung(6)|ovary(1)|prostate(2)	13						CCCACAGGACCGGCCTGATGC	0.473																																						ENST00000381482.3																			0				large_intestine(2)|liver(2)|lung(6)|ovary(1)|prostate(2)	13						c.(1549-1551)Cgg>Tgg		serine/threonine kinase 35							83	77	79					20																	2097968		2203	4300	6503	SO:0001583	missense	140901					cytoplasm|nucleolus	ATP binding|protein serine/threonine kinase activity	g.chr20:2097968C>T	AL359916	CCDS13024.1, CCDS13024.2	20p13	2008-07-02			ENSG00000125834	ENSG00000125834			16254	protein-coding gene	gene with protein product	"CLP-36 interacting kinase"	609370				11973348	Standard	NM_080836		Approved	bA550O8.2, CLIK1	uc002wfw.4	Q8TDR2	OTTHUMG00000031688	ENST00000381482.3:c.1549C>T	20.37:g.2097968C>T	ENSP00000370891:p.Arg517Trp					STK35_ENST00000400064.3_Intron|STK35_ENST00000246032.3_Missense_Mutation_p.R384W	p.R517W			Q8TDR2	STK35_HUMAN			3	1820	+			517			Protein kinase.		B2RBM3|C7ENV8|Q2NKW6|Q5T3R1|Q5T3R2|Q96AB4|Q9BZ06	Missense_Mutation	SNP	ENST00000381482.3	37	c.1549C>T	CCDS13024.2	.	.	.	.	.	.	.	.	.	.	C	24.4	4.527873	0.85706	.	.	ENSG00000125834	ENST00000381482;ENST00000246032	D;D	0.99270	-5.66;-5.66	5.5	5.5	0.81552	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.99588	0.9851	H	0.94423	3.535	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98091	1.0409	10	0.87932	D	0	-12.6477	16.94	0.86215	0.0:1.0:0.0:0.0	.	517	Q8TDR2	STK35_HUMAN	W	517;384	ENSP00000370891:R517W;ENSP00000246032:R384W	ENSP00000246032:R384W	R	+	1	2	STK35	2045968	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.810000	0.69179	2.861000	0.98227	0.655000	0.94253	CGG		0.473	STK35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077574.3	NM_080836		14	93	0	0	0	0.520397	0	14	93					T	2097968	C	T	2097968	3	4	99	1	0	0	0	0	1	0	0	0	15300	643	23	2	1559	2	STK35	20	2097968	Missense_Mutation	SNP	C	TCGA-EJ-7788-01A-11D-2114-08		2097968	60927552	36	5569											
HAO1	54363	broad.mit.edu	37	chr20	7894923	7894923	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcccatcttctctgcctgccGcactagcttcttggtgactt	4	14	8	15	1	3	1	0	1	3	0	4	1	3	1	3	1	3	2	3	1	1	5	rs200785017		TCGA-EJ-7788-01A-11D-2114-08	TCGA-EJ-7788-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea80f854-fec4-4811-9bec-038808522568	8dc89778-02e1-41c1-9b74-554f60f86c4d	g.chr20:7894923G>A	ENST00000378789.3	-	3	484	c.433C>T	c.(433-435)Cgg>Tgg	p.R145W		NM_017545.2	NP_060015.1	Q9UJM8	HAOX1_HUMAN	hydroxyacid oxidase (glycolate oxidase) 1	145	FMN hydroxy acid dehydrogenase. {ECO:0000255|PROSITE-ProRule:PRU00683}.				cellular nitrogen compound metabolic process (GO:0034641)|fatty acid alpha-oxidation (GO:0001561)|glycolate catabolic process (GO:0046296)|glyoxylate metabolic process (GO:0046487)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)	peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	(S)-2-hydroxy-acid oxidase activity (GO:0003973)|FMN binding (GO:0010181)|glycolate oxidase activity (GO:0008891)|glyoxylate oxidase activity (GO:0047969)|long-chain-(S)-2-hydroxy-long-chain-acid oxidase activity (GO:0052853)|medium-chain-(S)-2-hydroxy-acid oxidase activity (GO:0052854)|receptor binding (GO:0005102)|very-long-chain-(S)-2-hydroxy-acid oxidase activity (GO:0052852)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						TCTGCCTGCCGCACTAGCTTC	0.517																																						ENST00000378789.3																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						c.(433-435)Cgg>Tgg		hydroxyacid oxidase (glycolate oxidase) 1							198	121	147					20																	7894923		2203	4300	6503	SO:0001583	missense	54363				cellular nitrogen compound metabolic process|fatty acid alpha-oxidation|glycolate catabolic process|glyoxylate metabolic process	peroxisomal matrix	FMN binding|glycolate oxidase activity|glyoxylate oxidase activity	g.chr20:7894923G>A	AL021879	CCDS13100.1	20p12	2005-01-10			ENSG00000101323	ENSG00000101323	1.1.3.15		4809	protein-coding gene	gene with protein product		605023		GOX1		9891009	Standard	NM_017545		Approved	GOX	uc002wmw.1	Q9UJM8	OTTHUMG00000031841	ENST00000378789.3:c.433C>T	20.37:g.7894923G>A	ENSP00000368066:p.Arg145Trp						p.R145W	NM_017545.2	NP_060015.1	Q9UJM8	HAOX1_HUMAN			3	484	-			145			FMN hydroxy acid dehydrogenase.		Q14CQ0|Q9UPZ0|Q9Y3I7	Missense_Mutation	SNP	ENST00000378789.3	37	c.433C>T	CCDS13100.1	.	.	.	.	.	.	.	.	.	.	G	13.38	2.218570	0.39201	.	.	ENSG00000101323	ENST00000378789	T	0.34072	1.38	6.17	0.404	0.16355	Aldolase-type TIM barrel (1);FMN-dependent dehydrogenase (1);	0.915368	0.09558	N	0.786011	T	0.61438	0.2347	M	0.92923	3.36	0.09310	N	1	D;D	0.56287	0.975;0.975	P;P	0.61592	0.891;0.891	T	0.48570	-0.9024	10	0.87932	D	0	0.281	6.8057	0.23777	0.0708:0.0792:0.4783:0.3717	.	145;145	A8K058;Q9UJM8	.;HAOX1_HUMAN	W	145	ENSP00000368066:R145W	ENSP00000368066:R145W	R	-	1	2	HAO1	7842923	0.057000	0.20700	0.316000	0.25252	0.058000	0.15608	0.662000	0.25038	0.398000	0.25338	0.655000	0.94253	CGG		0.517	HAO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077926.2			23	67	0	0	0	0.654019	0	23	67					A	7894923	G	A	7894923	3	1	99	1	0	0	0	0	1	0	0	0	6951	1086	38	1	703	1	HAO1	20	7894923	Missense_Mutation	SNP	G	TCGA-EJ-7788-01A-11D-2114-08	5796955	7894923	55130597	37	5570											
ATP9A	10079	broad.mit.edu	37	chr20	50244193	50244193	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ttctttgccaccacgagcacCcgcagcccttctcgggccat	6	9	8	18	3	2	0	0	0	2	0	3	1	2	0	5	1	3	2	5	1	0	3			TCGA-EJ-7788-01A-11D-2114-08	TCGA-EJ-7788-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea80f854-fec4-4811-9bec-038808522568	8dc89778-02e1-41c1-9b74-554f60f86c4d	g.chr20:50244193C>A	ENST00000338821.5	-	17	2055	c.1791G>T	c.(1789-1791)cgG>cgT	p.R597R	ATP9A_ENST00000311637.5_Silent_p.R461R|ATP9A_ENST00000402822.1_Silent_p.R476R	NM_006045.1	NP_006036.1	O75110	ATP9A_HUMAN	ATPase, class II, type 9A	597					phospholipid translocation (GO:0045332)	early endosome (GO:0005769)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(10)|lung(18)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						CCACGAGCACCCGCAGCCCTT	0.567																																						ENST00000338821.5																			0				breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(10)|lung(18)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						c.(1789-1791)cgG>cgT		ATPase, class II, type 9A							216	204	208					20																	50244193		2203	4300	6503	SO:0001819	synonymous_variant	10079				ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr20:50244193C>A	AB014511	CCDS33489.1	20q13.2	2010-04-20	2007-09-19		ENSG00000054793	ENSG00000054793		"ATPases / P-type"	13540	protein-coding gene	gene with protein product		609126	"ATPase, Class II, type 9A"			9734811, 11015572	Standard	NM_006045		Approved	KIAA0611, ATPIIA	uc002xwg.1	O75110	OTTHUMG00000032751	ENST00000338821.5:c.1791G>T	20.37:g.50244193C>A						ATP9A_ENST00000311637.5_Silent_p.R461R|ATP9A_ENST00000402822.1_Silent_p.R476R	p.R597R	NM_006045.1	NP_006036.1	O75110	ATP9A_HUMAN			17	2055	-			597					E1P5Y3|E1P5Y4|Q5TFW5|Q5TFW6|Q5TFW9|Q6ZMF3|Q9NQK6|Q9NQK7	Silent	SNP	ENST00000338821.5	37	c.1791G>T	CCDS33489.1																																																																																				0.567	ATP9A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106494.1	NM_006045		104	264	1	0	4.64173e-58	0.870114	5.90766e-58	104	264					A	50244193	C	A	50244193	2	1	99	1	0	0	0	0	0	0	0	1	1198	610	22	5		5	ATP9A	20	50244193	Silent	SNP	C	TCGA-EJ-7788-01A-11D-2114-08	42349270	50244193	12781327	38	5571											
CYP24A1	1591	broad.mit.edu	37	chr20	52779274	52779274	+	Silent	SNP	C	C	T																															accgtttccaccgcagccagCtggagctctgtgacagcagc																										TCGA-EJ-7788-01A-11D-2114-08	TCGA-EJ-7788-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea80f854-fec4-4811-9bec-038808522568	8dc89778-02e1-41c1-9b74-554f60f86c4d	g.chr20:52779274C>T	ENST00000216862.3	-	7	1365	c.972G>A	c.(970-972)caG>caA	p.Q324Q	CYP24A1_ENST00000395954.3_Silent_p.Q182Q|CYP24A1_ENST00000395955.3_Silent_p.Q324Q	NM_000782.4	NP_000773.2	Q07973	CP24A_HUMAN	cytochrome P450, family 24, subfamily A, polypeptide 1	324					osteoblast differentiation (GO:0001649)|oxidation-reduction process (GO:0055114)|response to vitamin D (GO:0033280)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D catabolic process (GO:0042369)|vitamin D metabolic process (GO:0042359)|vitamin D receptor signaling pathway (GO:0070561)|vitamin metabolic process (GO:0006766)|xenobiotic metabolic process (GO:0006805)	mitochondrial inner membrane (GO:0005743)	1-alpha,25-dihydroxyvitamin D3 24-hydroxylase activity (GO:0030342)|25-hydroxycholecalciferol-24-hydroxylase activity (GO:0008403)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxidoreductase activity (GO:0016491)			breast(2)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	24	Lung NSC(4;1.08e-05)|all_lung(4;2.7e-05)		STAD - Stomach adenocarcinoma(23;0.206)		Calcidiol(DB00146)|Calcipotriol(DB02300)|Calcitriol(DB00136)|Corticotropin(DB01285)|Ergocalciferol(DB00153)|Paricalcitol(DB00910)	CCGCAGCCAGCTGGAGCTCTG	0.418																																						ENST00000216862.3																			0				breast(2)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	24						c.(970-972)caG>caA		cytochrome P450, family 24, subfamily A, polypeptide 1	Calcidiol(DB00146)|Calcitriol(DB00136)|Cholecalciferol(DB00169)|Ergocalciferol(DB00153)|Paricalcitol(DB00910)						62	59	60					20																	52779274		2203	4300	6503	SO:0001819	synonymous_variant	0				hormone biosynthetic process|osteoblast differentiation|vitamin D catabolic process|vitamin D receptor signaling pathway|xenobiotic metabolic process	mitochondrial inner membrane	1-alpha,25-dihydroxyvitamin D3 24-hydroxylase activity|electron carrier activity|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NADH or NADPH as one donor, and incorporation of one atom of oxygen	g.chr20:52779274C>T	U60669	CCDS33491.1, CCDS46616.1	20q13.2-q13.3	2003-02-28	2003-02-14	2003-02-28	ENSG00000019186	ENSG00000019186		"Cytochrome P450s"	2602	protein-coding gene	gene with protein product		126065	"cytochrome P450, subfamily XXIV (vitamin D 24-hydroxylase)"	CYP24			Standard	NM_000782		Approved	CP24, P450-CC24	uc002xwv.2	Q07973	OTTHUMG00000032773	ENST00000216862.3:c.972G>A	20.37:g.52779274C>T						CYP24A1_ENST00000395955.3_Silent_p.Q324Q|CYP24A1_ENST00000395954.3_Silent_p.Q182Q	p.Q324Q	NM_000782.4	NP_000773.2	Q07973	CP24A_HUMAN	STAD - Stomach adenocarcinoma(23;0.206)		7	1365	-	Lung NSC(4;1.08e-05)|all_lung(4;2.7e-05)		324					Q15807|Q32ML3|Q5I2W7	Silent	SNP	ENST00000216862.3	37	c.972G>A	CCDS33491.1																																																																																				0.418	CYP24A1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079769.2			8	59	0	0	0	0.307466	0	8	59					T	52779274	C	T	52779274	2	4	99	1	0	0	0	0	0	0	0	1	4154	796	28	3		3	CYP24A1	20	52779274	Silent	SNP	C	TCGA-EJ-7788-01A-11D-2114-08	2535081	52779274	10246246	39	5572	30	2									
CYP24A1	1591	broad.mit.edu	37	chr20	52779277	52779277	+	Silent	SNP	G	G	T																															gtttccaccgcagccagctgGagctctgtgacagcagcata																										TCGA-EJ-7788-01A-11D-2114-08	TCGA-EJ-7788-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea80f854-fec4-4811-9bec-038808522568	8dc89778-02e1-41c1-9b74-554f60f86c4d	g.chr20:52779277G>T	ENST00000216862.3	-	7	1362	c.969C>A	c.(967-969)ctC>ctA	p.L323L	CYP24A1_ENST00000395954.3_Silent_p.L181L|CYP24A1_ENST00000395955.3_Silent_p.L323L	NM_000782.4	NP_000773.2	Q07973	CP24A_HUMAN	cytochrome P450, family 24, subfamily A, polypeptide 1	323					osteoblast differentiation (GO:0001649)|oxidation-reduction process (GO:0055114)|response to vitamin D (GO:0033280)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D catabolic process (GO:0042369)|vitamin D metabolic process (GO:0042359)|vitamin D receptor signaling pathway (GO:0070561)|vitamin metabolic process (GO:0006766)|xenobiotic metabolic process (GO:0006805)	mitochondrial inner membrane (GO:0005743)	1-alpha,25-dihydroxyvitamin D3 24-hydroxylase activity (GO:0030342)|25-hydroxycholecalciferol-24-hydroxylase activity (GO:0008403)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxidoreductase activity (GO:0016491)			breast(2)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	24	Lung NSC(4;1.08e-05)|all_lung(4;2.7e-05)		STAD - Stomach adenocarcinoma(23;0.206)		Calcidiol(DB00146)|Calcipotriol(DB02300)|Calcitriol(DB00136)|Corticotropin(DB01285)|Ergocalciferol(DB00153)|Paricalcitol(DB00910)	CAGCCAGCTGGAGCTCTGTGA	0.418																																						ENST00000216862.3																			0				breast(2)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	24						c.(967-969)ctC>ctA		cytochrome P450, family 24, subfamily A, polypeptide 1	Calcidiol(DB00146)|Calcitriol(DB00136)|Cholecalciferol(DB00169)|Ergocalciferol(DB00153)|Paricalcitol(DB00910)						64	61	62					20																	52779277		2203	4300	6503	SO:0001819	synonymous_variant	0				hormone biosynthetic process|osteoblast differentiation|vitamin D catabolic process|vitamin D receptor signaling pathway|xenobiotic metabolic process	mitochondrial inner membrane	1-alpha,25-dihydroxyvitamin D3 24-hydroxylase activity|electron carrier activity|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NADH or NADPH as one donor, and incorporation of one atom of oxygen	g.chr20:52779277G>T	U60669	CCDS33491.1, CCDS46616.1	20q13.2-q13.3	2003-02-28	2003-02-14	2003-02-28	ENSG00000019186	ENSG00000019186		"Cytochrome P450s"	2602	protein-coding gene	gene with protein product		126065	"cytochrome P450, subfamily XXIV (vitamin D 24-hydroxylase)"	CYP24			Standard	NM_000782		Approved	CP24, P450-CC24	uc002xwv.2	Q07973	OTTHUMG00000032773	ENST00000216862.3:c.969C>A	20.37:g.52779277G>T						CYP24A1_ENST00000395955.3_Silent_p.L323L|CYP24A1_ENST00000395954.3_Silent_p.L181L	p.L323L	NM_000782.4	NP_000773.2	Q07973	CP24A_HUMAN	STAD - Stomach adenocarcinoma(23;0.206)		7	1362	-	Lung NSC(4;1.08e-05)|all_lung(4;2.7e-05)		323					Q15807|Q32ML3|Q5I2W7	Silent	SNP	ENST00000216862.3	37	c.969C>A	CCDS33491.1																																																																																				0.418	CYP24A1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079769.2			9	59	1	0	7.48243e-07	0.335167	8.4479e-07	9	59					T	52779277	G	T	52779277	2	4	99	1	0	0	0	0	0	0	0	1	4154	1161	41	5		5	CYP24A1	20	52779277	Silent	SNP	G	TCGA-EJ-7788-01A-11D-2114-08	3	52779277	10246243	40	5573	30	2									
TOP3B	8940	broad.mit.edu	37	chr22	22324625	22324625	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caggtccagctcctggcgagCatccactgagagcgcctcgt	7	7	12	15	3	0	1	0	1	0	1	4	3	3	1	4	2	3	2	4	2	0	0			TCGA-EJ-7788-01A-11D-2114-08	TCGA-EJ-7788-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea80f854-fec4-4811-9bec-038808522568	8dc89778-02e1-41c1-9b74-554f60f86c4d	g.chr22:22324625C>T	ENST00000398793.2	-	6	972	c.538G>A	c.(538-540)Gct>Act	p.A180T	TOP3B_ENST00000413067.2_Intron|TOP3B_ENST00000357179.5_Missense_Mutation_p.A180T	NM_003935.3	NP_003926.1	O95985	TOP3B_HUMAN	topoisomerase (DNA) III beta	180					chromosome segregation (GO:0007059)|DNA topological change (GO:0006265)	condensed chromosome (GO:0000793)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA topoisomerase activity (GO:0003916)|DNA topoisomerase type I activity (GO:0003917)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(4)|lung(9)|ovary(1)	26	Colorectal(54;0.105)			READ - Rectum adenocarcinoma(21;0.145)		TCCTGGCGAGCATCCACTGAG	0.622																																						ENST00000398793.2																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(4)|lung(9)|ovary(1)	26						c.(538-540)Gct>Act		topoisomerase (DNA) III beta							80	67	72					22																	22324625		2203	4300	6503	SO:0001583	missense	8940				DNA topological change	nucleus	ATP binding|DNA topoisomerase type I activity|protein binding	g.chr22:22324625C>T	AF017146	CCDS13797.1	22q11.22	2011-05-24			ENSG00000100038	ENSG00000100038			11993	protein-coding gene	gene with protein product		603582				9786842, 9074928	Standard	XM_005261811		Approved		uc002zvs.3	O95985	OTTHUMG00000167438	ENST00000398793.2:c.538G>A	22.37:g.22324625C>T	ENSP00000381773:p.Ala180Thr					TOP3B_ENST00000357179.5_Missense_Mutation_p.A180T|TOP3B_ENST00000413067.2_Intron	p.A180T	NM_003935.3	NP_003926.1	O95985	TOP3B_HUMAN		READ - Rectum adenocarcinoma(21;0.145)	6	972	-	Colorectal(54;0.105)		180					A0M8Q3|Q9BUP5	Missense_Mutation	SNP	ENST00000398793.2	37	c.538G>A	CCDS13797.1	.	.	.	.	.	.	.	.	.	.	C	36	5.711980	0.96830	.	.	ENSG00000100038	ENST00000357179;ENST00000398793;ENST00000424393	T;T;T	0.30714	1.52;1.52;1.52	4.77	3.75	0.43078	DNA topoisomerase, type IA, core domain (1);DNA topoisomerase, type IA, central (1);DNA topoisomerase, type IA, domain 2 (1);DNA topoisomerase, type IA, central region, subdomain 1 (1);	0.000000	0.85682	D	0.000000	T	0.50343	0.1610	M	0.74881	2.28	0.80722	D	1	D	0.57899	0.981	P	0.59595	0.86	T	0.57171	-0.7857	10	0.87932	D	0	0.0418	13.2482	0.60036	0.0:0.9231:0.0:0.0769	.	180	O95985	TOP3B_HUMAN	T	180	ENSP00000349705:A180T;ENSP00000381773:A180T;ENSP00000390977:A180T	ENSP00000349705:A180T	A	-	1	0	TOP3B	20654625	1.000000	0.71417	0.977000	0.42913	0.966000	0.64601	7.607000	0.82883	1.241000	0.43820	0.555000	0.69702	GCT		0.622	TOP3B-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320251.1	NM_003935		7	72	0	0	0	0.307466	0	7	72					T	22324625	C	T	22324625	3	4	99	1	0	0	0	0	1	0	0	0	16365	710	25	3	2102	3	TOP3B	22	22324625	Missense_Mutation	SNP	C	TCGA-EJ-7788-01A-11D-2114-08		22324625	28979941	41	5574											
MAGEB6	158809	broad.mit.edu	37	chrX	26212431	26212431	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagcttcacccactggctcGcctgatgcaggtgtttcagg	6	10	13	12	1	2	1	2	1	0	0	3	2	2	2	2	4	2	4	2	4	0	2			TCGA-EJ-7788-01A-11D-2114-08	TCGA-EJ-7788-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea80f854-fec4-4811-9bec-038808522568	8dc89778-02e1-41c1-9b74-554f60f86c4d	g.chrX:26212431G>T	ENST00000379034.1	+	2	617	c.468G>T	c.(466-468)tcG>tcT	p.S156S		NM_173523.2	NP_775794.2	Q8N7X4	MAGB6_HUMAN	melanoma antigen family B, 6	156	Ser-rich.							p.S156S(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(18)|ovary(3)|prostate(2)	33						CCACTGGCTCGCCTGATGCAG	0.507																																						ENST00000379034.1																			1	Substitution - coding silent(1)	p.S156S(1)	lung(1)	breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(18)|ovary(3)|prostate(2)	33						c.(466-468)tcG>tcT		melanoma antigen family B, 6							56	52	53					X																	26212431		2202	4300	6502	SO:0001819	synonymous_variant	158809							g.chrX:26212431G>T	AF320514	CCDS14217.1	Xp22.12	2009-03-17			ENSG00000176746	ENSG00000176746			23796	protein-coding gene	gene with protein product	"cancer/testis antigen family 3, member 4"	300467				10861452	Standard	NM_173523		Approved	FLJ40242, MAGE-B6, MAGEB6A, CT3.4	uc004dbr.3	Q8N7X4	OTTHUMG00000021285	ENST00000379034.1:c.468G>T	X.37:g.26212431G>T							p.S156S	NM_173523.2	NP_775794.2	Q8N7X4	MAGB6_HUMAN			2	617	+			156			Ser-rich.		Q6GS19|Q9H219	Silent	SNP	ENST00000379034.1	37	c.468G>T	CCDS14217.1																																																																																				0.507	MAGEB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056123.1	NM_173523		3	34	1	0	0.115264	0.115264	0.118654	3	34					T	26212431	G	T	26212431	2	4	99	1	0	0	0	0	0	0	0	1	9179	1074	38	5		5	MAGEB6	23	26212431	Silent	SNP	G	TCGA-EJ-7788-01A-11D-2114-08		26212431	129058129	42	5575											
GK	2710	broad.mit.edu	37	chrX	30737631	30737631	+	Splice_Site	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	attgggagcccagcgcaagaGggtaagtattgaaaatatgg	14	8	14	5	1	0	2	0	1	0	1	0	3	0	3	1	3	2	3	1	3	6	5			TCGA-EJ-7788-01A-11D-2114-08	TCGA-EJ-7788-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea80f854-fec4-4811-9bec-038808522568	8dc89778-02e1-41c1-9b74-554f60f86c4d	g.chrX:30737631G>C	ENST00000378943.3	+	14	1311	c.1132G>C	c.(1132-1134)Ggg>Cgg	p.G378R	GK_ENST00000378945.3_Splice_Site_p.G378R|GK-AS1_ENST00000464659.1_RNA|GK_ENST00000427190.1_Splice_Site_p.G179R|GK_ENST00000378946.3_Splice_Site_p.G384R|RP11-242C19.2_ENST00000497961.1_RNA	NM_001128127.2	NP_001121599.1	P32189	GLPK_HUMAN	glycerol kinase	384					cellular lipid metabolic process (GO:0044255)|glucose homeostasis (GO:0042593)|glycerol catabolic process (GO:0019563)|glycerol metabolic process (GO:0006071)|glycerol-3-phosphate biosynthetic process (GO:0046167)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|triglyceride metabolic process (GO:0006641)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrial outer membrane (GO:0005741)|nucleus (GO:0005634)	ATP binding (GO:0005524)|glycerol kinase activity (GO:0004370)			central_nervous_system(1)|large_intestine(3)	4						CAGCGCAAGAGGGTAAGTATT	0.353																																						ENST00000378943.3																			0				central_nervous_system(1)|large_intestine(3)	4						c.e14+1		glycerol kinase							59	54	55					X																	30737631		2201	4299	6500	SO:0001630	splice_region_variant	2710				glycerol-3-phosphate metabolic process|triglyceride biosynthetic process	cytosol|mitochondrial outer membrane	ATP binding|glycerol kinase activity	g.chrX:30737631G>C	X78711	CCDS14225.1, CCDS35224.1, CCDS48090.1, CCDS75963.1	Xp21.3	2014-09-17			ENSG00000198814	ENSG00000198814	2.7.1.30	"Glycerol kinases"	4289	protein-coding gene	gene with protein product		300474				7987308	Standard	NM_203391		Approved	GK1, GKD	uc022buj.1	P32189	OTTHUMG00000021328	ENST00000378943.3:c.1133+1G>C	X.37:g.30737631G>C						RP11-242C19.2_ENST00000497961.1_RNA|GK_ENST00000378946.3_Splice_Site_p.G384_splice|GK-AS1_ENST00000464659.1_RNA|GK_ENST00000378945.3_Splice_Site_p.G378_splice|GK_ENST00000427190.1_Splice_Site_p.G179_splice	p.G378_splice	NM_001128127.2	NP_001121599.1	P32189	GLPK_HUMAN			14	1311	+			384					A6NJP5|B2R833|Q6IQ27|Q8IVR5|Q9UMP0|Q9UMP1	Splice_Site	SNP	ENST00000378943.3	37	c.1133_splice	CCDS48090.1	.	.	.	.	.	.	.	.	.	.	G	31	5.076209	0.94000	.	.	ENSG00000198814	ENST00000378946;ENST00000378943;ENST00000534212;ENST00000378945;ENST00000427190;ENST00000451432	D;D;D;D	0.93247	-3.19;-3.19;-3.19;-3.19	5.67	5.67	0.87782	Carbohydrate kinase, FGGY, C-terminal (1);Carbohydrate kinase, FGGY, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.98147	0.9388	H	0.97390	3.995	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0	D	0.99395	1.0926	10	0.87932	D	0	.	18.9996	0.92828	0.0:0.0:1.0:0.0	.	221;384;378;378;384	E7EQC0;P32189;P32189-2;P32189-1;A6NJP5	.;GLPK_HUMAN;.;.;.	R	384;378;384;378;179;221	ENSP00000368229:G384R;ENSP00000368226:G378R;ENSP00000368228:G378R;ENSP00000401720:G179R	ENSP00000368226:G378R	G	+	1	0	GK	30647552	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	9.568000	0.98166	2.522000	0.85027	0.594000	0.82650	GGG		0.353	GK-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056170.1	NM_000167	Missense_Mutation	29	15	0	0	0	0.804634	0	29	15					C	30737631	G	C	30737631	5	2	99	1	0	0	0	0	0	0	1	0	6420	1014	35	5	1208	5	GK	23	30737631	Splice_Site	SNP	G	TCGA-EJ-7788-01A-11D-2114-08	4525200	30737631	124532929	43	5576											
SHROOM4	57477	broad.mit.edu	37	chrX	50350672	50350674	+	In_Frame_Del	DEL	TCT	TCT	-																															aatactggggtggcagctccTcttcctcctcctctgcctcc																								rs3747282	byFrequency	TCGA-EJ-7788-01A-11D-2114-08	TCGA-EJ-7788-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea80f854-fec4-4811-9bec-038808522568	8dc89778-02e1-41c1-9b74-554f60f86c4d	g.chrX:50350672_50350674delTCT	ENST00000289292.7	-	6	3751_3753	c.3468_3470delAGA	c.(3466-3471)gaagag>gag	p.1156_1157EE>E	SHROOM4_ENST00000376020.2_In_Frame_Del_p.1156_1157EE>E|SHROOM4_ENST00000460112.3_In_Frame_Del_p.1040_1041EE>E			Q9ULL8	SHRM4_HUMAN	shroom family member 4	1156	Glu-rich.				actin cytoskeleton organization (GO:0030036)|actin filament organization (GO:0007015)|brain development (GO:0007420)|cognition (GO:0050890)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|myosin II complex (GO:0016460)|stress fiber (GO:0001725)	actin filament binding (GO:0051015)	p.E1156E(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	52	Ovarian(276;0.236)					TGGCAGctcctcttcctcctcct	0.557																																						ENST00000376020.2																			1	Substitution - coding silent(1)	p.E1156E(1)	skin(1)	breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	52						c.(3466-3471)gag>ga		shroom family member 4																																				SO:0001651	inframe_deletion	57477				actin filament organization|brain development|cell morphogenesis|cognition	apical plasma membrane|basal plasma membrane|internal side of plasma membrane|nucleus	actin filament binding	g.chrX:50350672_50350674delTCT	AB033028	CCDS35277.1	Xp11.22	2008-02-05			ENSG00000158352	ENSG00000158352			29215	protein-coding gene	gene with protein product		300579				10574462, 16615870	Standard	NR_027121		Approved	KIAA1202	uc004dpe.2	Q9ULL8	OTTHUMG00000021521	ENST00000289292.7:c.3468_3470delAGA	X.37:g.50350672_50350674delTCT	ENSP00000289292:p.Glu1158del					SHROOM4_ENST00000289292.7_In_Frame_Del_p.EE1156del|SHROOM4_ENST00000460112.3_In_Frame_Del_p.EE1040del	p.EE1156del	NM_020717.3	NP_065768.2	Q9ULL8	SHRM4_HUMAN			6	3493_3495	-	Ovarian(276;0.236)		1156			Glu-rich.		A7E2X9|D6RFW0|Q96LA0	In_Frame_Del	DEL	ENST00000289292.7	37	c.3468_3470delAGA	CCDS35277.1																																																																																				0.557	SHROOM4-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056564.4	NM_020717		4	7						4	7	---	---	---	---	-	50350674	TCT	-	50350672	7	5	99	1	0	1	0	1	0	0	0	0	14296	1551	54	0	1027	0	SHROOM4	23	50350672	In_Frame_Del	DEL	TCT	TCGA-EJ-7788-01A-11D-2114-08	19613041	50350672	104919888	44	5577											
MAGEC3	139081	broad.mit.edu	37	chrX	140983190	140983190	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttagacctggccaatcctCaaggtaagggccctaaggga	11	8	11	11	0	2	1	1	0	1	1	3	2	3	2	4	4	0	1	4	4	5	3			TCGA-EJ-7788-01A-11D-2114-08	TCGA-EJ-7788-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea80f854-fec4-4811-9bec-038808522568	8dc89778-02e1-41c1-9b74-554f60f86c4d	g.chrX:140983190C>A	ENST00000298296.1	+	5	1045	c.1045C>A	c.(1045-1047)Caa>Aaa	p.Q349K	MAGEC3_ENST00000483584.1_3'UTR|MAGEC3_ENST00000544766.1_5'UTR|MAGEC3_ENST00000409007.1_5'Flank|MAGEC3_ENST00000443323.2_Intron|MAGEC3_ENST00000448920.1_Missense_Mutation_p.Q101K|MAGEC3_ENST00000536088.1_Intron	NM_138702.1	NP_619647.1	Q8TD91	MAGC3_HUMAN	melanoma antigen family C, 3	349	MAGE 1. {ECO:0000255|PROSITE- ProRule:PRU00127}.									NS(2)|breast(3)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|liver(1)|lung(32)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(2)	69	Acute lymphoblastic leukemia(192;6.56e-05)					GGCCAATCCTCAAGGTAAGGG	0.577																																						ENST00000298296.1																			0				NS(2)|breast(3)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|liver(1)|lung(32)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(2)	69						c.(1045-1047)Caa>Aaa		melanoma antigen family C, 3							96	86	89					X																	140983190		2202	4300	6502	SO:0001583	missense	139081							g.chrX:140983190C>A	AF490508	CCDS14676.1, CCDS14677.1	Xq27.2	2009-03-25			ENSG00000165509	ENSG00000165509			23798	protein-coding gene	gene with protein product	"cancer/testis antigen family 7, member 2"	300469				10861452	Standard	NM_138702		Approved	HCA2, MAGE-C3, CT7.2	uc011mwp.2	Q8TD91	OTTHUMG00000022570	ENST00000298296.1:c.1045C>A	X.37:g.140983190C>A	ENSP00000298296:p.Gln349Lys					MAGEC3_ENST00000544766.1_5'UTR|MAGEC3_ENST00000536088.1_Intron|MAGEC3_ENST00000483584.1_3'UTR|MAGEC3_ENST00000448920.1_Missense_Mutation_p.Q101K|MAGEC3_ENST00000443323.2_Intron	p.Q349K	NM_138702.1	NP_619647.1	Q8TD91	MAGC3_HUMAN			5	1045	+	Acute lymphoblastic leukemia(192;6.56e-05)		349			MAGE 1.		Q3SYA7|Q5JZ43|Q9BZ80	Missense_Mutation	SNP	ENST00000298296.1	37	c.1045C>A	CCDS14676.1	.	.	.	.	.	.	.	.	.	.	N	0.420	-0.908750	0.02434	.	.	ENSG00000165509	ENST00000298296;ENST00000448920	T;T	0.37411	4.15;1.2	0.683	-0.433	0.12287	.	.	.	.	.	T	0.22936	0.0554	L	0.34521	1.04	0.09310	N	1	B	0.17667	0.023	B	0.08055	0.003	T	0.19289	-1.0310	8	0.42905	T	0.14	.	.	.	.	.	349	Q8TD91	MAGC3_HUMAN	K	349;101	ENSP00000298296:Q349K;ENSP00000395092:Q101K	ENSP00000298296:Q349K	Q	+	1	0	MAGEC3	140810856	0.003000	0.15002	0.001000	0.08648	0.002000	0.02628	-0.133000	0.10451	-0.228000	0.09869	-0.874000	0.02982	CAA		0.577	MAGEC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058606.1	NM_138702		45	27	1	0	8.72198e-27	0.870114	1.09025e-26	45	27					A	140983190	C	A	140983190	3	1	99	1	0	0	0	0	1	0	0	0	9182	827	29	5	1063	5	MAGEC3	23	140983190	Missense_Mutation	SNP	C	TCGA-EJ-7788-01A-11D-2114-08	90632518	140983190	14287370	45	5578											
NFYC	4802	broad.mit.edu	37	chr1	41204550	41204550	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aggatttggtggtactagcaGcagtgatgcccagcaaagcc	11	8	13	9	0	0	1	0	1	0	0	0	2	0	2	2	3	6	4	2	3	3	3			TCGA-EJ-7789-01A-11D-2114-08	TCGA-EJ-7789-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d415be01-5bb2-4be0-9a02-9c70e461faa3	316e21f4-9c3d-41d4-aafd-5fb3c3743ba2	g.chr1:41204550G>A	ENST00000308733.5	+	1	41	c.35G>A	c.(34-36)aGc>aAc	p.S12N	NFYC_ENST00000440226.3_Missense_Mutation_p.S12N|NFYC_ENST00000372652.1_Missense_Mutation_p.S12N|NFYC_ENST00000447388.3_Missense_Mutation_p.S12N|NFYC_ENST00000425457.2_Missense_Mutation_p.S12N|NFYC_ENST00000456393.2_Missense_Mutation_p.S12N|NFYC_ENST00000427410.2_Missense_Mutation_p.S12N|NFYC_ENST00000372651.1_Missense_Mutation_p.S12N|NFYC_ENST00000372654.1_Missense_Mutation_p.S12N|NFYC_ENST00000372653.1_Missense_Mutation_p.S12N			Q13952	NFYC_HUMAN	nuclear transcription factor Y, gamma	12					cellular lipid metabolic process (GO:0044255)|positive regulation of transcription, DNA-templated (GO:0045893)|protein folding (GO:0006457)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	CCAAT-binding factor complex (GO:0016602)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(3)|lung(1)|prostate(1)|skin(2)	15	Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.72e-17)			GGTACTAGCAGCAGTGATGCC	0.418																																						ENST00000372652.1																			0				NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(3)|lung(1)|prostate(1)|skin(2)	15						c.(34-36)aGc>aAc		nuclear transcription factor Y, gamma							123	122	122					1																	41204550		2203	4300	6503	SO:0001583	missense	4802				protein folding|regulation of transcription from RNA polymerase II promoter	CCAAT-binding factor complex	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chr1:41204550G>A	U78774	CCDS455.1, CCDS44120.1, CCDS44121.1, CCDS44122.1, CCDS44123.1	1p32	2008-11-11			ENSG00000066136	ENSG00000066136			7806	protein-coding gene	gene with protein product		605344				8921405, 9249075	Standard	NM_014223		Approved	CBF-C, NF-YC	uc009vwd.3	Q13952	OTTHUMG00000007729	ENST00000308733.5:c.35G>A	1.37:g.41204550G>A	ENSP00000312617:p.Ser12Asn					NFYC_ENST00000427410.2_Missense_Mutation_p.S12N|NFYC_ENST00000425457.2_Missense_Mutation_p.S12N|NFYC_ENST00000447388.3_Missense_Mutation_p.S12N|NFYC_ENST00000372653.1_Missense_Mutation_p.S12N|NFYC_ENST00000372654.1_Missense_Mutation_p.S12N|NFYC_ENST00000372651.1_Missense_Mutation_p.S12N|NFYC_ENST00000308733.5_Missense_Mutation_p.S12N|NFYC_ENST00000440226.3_Missense_Mutation_p.S12N|NFYC_ENST00000456393.2_Missense_Mutation_p.S12N	p.S12N			Q13952	NFYC_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;1.72e-17)		2	303	+	Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	12					B4DUS6|B4DW63|D3DPV9|F8VWM3|Q59GY4|Q5T6K8|Q5T6K9|Q5T6L1|Q5TZR6|Q92869|Q9HBX1|Q9NXB5|Q9UM67|Q9UML0|Q9UMT7	Missense_Mutation	SNP	ENST00000308733.5	37	c.35G>A		.	.	.	.	.	.	.	.	.	.	G	18.29	3.590598	0.66219	.	.	ENSG00000066136	ENST00000427410;ENST00000447388;ENST00000425457;ENST00000453631;ENST00000456393;ENST00000372654;ENST00000534399;ENST00000372653;ENST00000372669;ENST00000372652;ENST00000372651;ENST00000531464;ENST00000440226;ENST00000525290;ENST00000530965;ENST00000416859;ENST00000308733	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.47177	0.85;1.46;1.45;0.89;1.48;1.46;1.5;2.46;1.47;1.46;1.46;0.89;0.88;1.42	5.93	5.93	0.95920	Histone-fold (1);	0.207942	0.64402	D	0.000014	T	0.34019	0.0883	N	0.11927	0.2	0.45541	D	0.99849	B;B;B;B;B;B;B;B	0.32245	0.065;0.018;0.361;0.039;0.275;0.065;0.065;0.281	B;B;B;B;B;B;B;B	0.30646	0.038;0.025;0.118;0.01;0.076;0.038;0.038;0.075	T	0.24190	-1.0167	10	0.59425	D	0.04	.	17.8477	0.88736	0.0:0.0:1.0:0.0	.	12;12;12;12;12;12;12;12	B4DW63;B4DVS8;Q13952;Q5T6K9;Q13952-3;F8VWM3;Q13952-2;B4DUS6	.;.;NFYC_HUMAN;.;.;.;.;.	N	12	ENSP00000408315:S12N;ENSP00000404427:S12N;ENSP00000396620:S12N;ENSP00000397647:S12N;ENSP00000408867:S12N;ENSP00000361738:S12N;ENSP00000361737:S12N;ENSP00000361754:S12N;ENSP00000361736:S12N;ENSP00000361734:S12N;ENSP00000414299:S12N;ENSP00000436710:S12N;ENSP00000409219:S12N;ENSP00000312617:S12N	ENSP00000312617:S12N	S	+	2	0	NFYC	40977137	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.446000	0.60014	2.826000	0.97356	0.655000	0.94253	AGC		0.418	NFYC-007	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000020802.1	NM_014223		3	65	0	0	0	1	0	3	65					A	41204550	G	A	41204550	3	1	100	1	0	0	0	0	1	0	0	0	10391	971	34	3	37	3	NFYC	1	41204550	Missense_Mutation	SNP	G	TCGA-EJ-7789-01A-11D-2114-08		41204550	208046071	1	5579											
DOCK7	85440	broad.mit.edu	37	chr1	62941378	62941378	+	Splice_Site	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgcccattaatggacttacCtcttctttatgagtgacatt	9	17	6	9	0	2	2	0	2	2	0	2	3	2	3	2	1	2	0	2	1	3	7			TCGA-EJ-7789-01A-11D-2114-08	TCGA-EJ-7789-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d415be01-5bb2-4be0-9a02-9c70e461faa3	316e21f4-9c3d-41d4-aafd-5fb3c3743ba2	g.chr1:62941378C>G	ENST00000340370.5	-	45	5885	c.5868G>C	c.(5866-5868)gaG>gaC	p.E1956D	DOCK7_ENST00000489185.1_5'UTR|DOCK7_ENST00000251157.5_Splice_Site_p.E1976D	NM_033407.2	NP_212132.2	Q96N67	DOCK7_HUMAN	dedicator of cytokinesis 7	1987	DHR-2.				activation of Rac GTPase activity (GO:0032863)|axonogenesis (GO:0007409)|establishment of neuroblast polarity (GO:0045200)|hematopoietic progenitor cell differentiation (GO:0002244)|interkinetic nuclear migration (GO:0022027)|microtubule cytoskeleton organization (GO:0000226)|neuron projection development (GO:0031175)|pigmentation (GO:0043473)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of neurogenesis (GO:0050767)|small GTPase mediated signal transduction (GO:0007264)	axon (GO:0030424)|basal part of cell (GO:0045178)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|neuron projection (GO:0043005)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rac GTPase binding (GO:0048365)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(19)|lung(42)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	92						ATGGACTTACCTCTTCTTTAT	0.378																																						ENST00000251157.5																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(19)|lung(42)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	92						c.e45+1		dedicator of cytokinesis 7							133	139	137					1																	62941378		2203	4300	6503	SO:0001630	splice_region_variant	85440				activation of Rac GTPase activity|axonogenesis|establishment of neuroblast polarity|microtubule cytoskeleton organization|positive regulation of peptidyl-serine phosphorylation	axon|basal part of cell|growth cone	GTP binding|guanyl-nucleotide exchange factor activity|Rac GTPase binding	g.chr1:62941378C>G		CCDS30734.1, CCDS60156.1, CCDS60157.1	1p32.1	2008-02-05			ENSG00000116641	ENSG00000116641			19190	protein-coding gene	gene with protein product		615730				12432077	Standard	NM_033407		Approved	KIAA1771, ZIR2	uc001daq.4	Q96N67	OTTHUMG00000013131	ENST00000340370.5:c.5868+1G>C	1.37:g.62941378C>G						DOCK7_ENST00000489185.1_5'UTR|DOCK7_ENST00000340370.5_Splice_Site_p.E1956_splice	p.E1976_splice	NM_001271999.1	NP_001258928.1	Q96N67	DOCK7_HUMAN			45	5961	-			1987			DHR-2.		Q00M63|Q2PPY7|Q45RE8|Q45RE9|Q5T1B9|Q5T1C0|Q6ZV32|Q8TB82|Q96NG6|Q96NI0|Q9C092	Splice_Site	SNP	ENST00000340370.5	37	c.5928_splice	CCDS30734.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	22.0|22.0	4.224296|4.224296	0.79576|0.79576	.|.	.|.	ENSG00000116641|ENSG00000116641	ENST00000454575|ENST00000371140;ENST00000251157;ENST00000340370;ENST00000395441	.|T;T	.|0.19806	.|2.12;2.12	5.72|5.72	5.72|5.72	0.89469|0.89469	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.51075|0.51075	0.1653|0.1653	M|M	0.78916|0.78916	2.43|2.43	0.80722|0.80722	D|D	1|1	.|D;D;D;D;D;D	.|0.76494	.|0.998;0.984;0.998;0.999;0.999;0.967	.|D;P;D;D;D;P	.|0.87578	.|0.981;0.79;0.995;0.994;0.998;0.852	T|T	0.48055|0.48055	-0.9068|-0.9068	5|10	.|0.52906	.|T	.|0.07	.|.	19.8965|19.8965	0.96963|0.96963	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|1987;1976;1956;1945;1947;1978	.|Q96N67;Q96N67-2;Q96N67-5;Q96N67-4;Q96N67-3;Q96N67-6	.|DOCK7_HUMAN;.;.;.;.;.	H|D	1150|1987;1976;1956;717	.|ENSP00000251157:E1976D;ENSP00000340742:E1956D	.|ENSP00000251157:E1976D	D|E	-|-	1|3	0|2	DOCK7|DOCK7	62713966|62713966	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.673000|0.673000	0.39480|0.39480	4.977000|4.977000	0.63792|0.63792	2.717000|2.717000	0.92951|0.92951	0.655000|0.655000	0.94253|0.94253	GAT|GAG		0.378	DOCK7-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036806.1	NM_033407	Missense_Mutation	48	72	0	0	0	1	0	48	72					G	62941378	C	G	62941378	5	3	100	1	0	0	0	0	0	0	1	0	4692	695	24	5	481	5	DOCK7	1	62941378	Splice_Site	SNP	C	TCGA-EJ-7789-01A-11D-2114-08	21736828	62941378	186309243	2	5580											
GTF2B	2959	broad.mit.edu	37	chr1	89319013	89319013	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attgtaacatcagcaacaccAgcaatatctccaatttctaa	16	11	3	11	0	3	0	1	0	2	0	4	0	3	0	2	0	4	3	2	0	6	5			TCGA-EJ-7789-01A-11D-2114-08	TCGA-EJ-7789-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d415be01-5bb2-4be0-9a02-9c70e461faa3	316e21f4-9c3d-41d4-aafd-5fb3c3743ba2	g.chr1:89319013A>T	ENST00000370500.5	-	7	952	c.834T>A	c.(832-834)gcT>gcA	p.A278A		NM_001514.5	NP_001505.1	Q00403	TF2B_HUMAN	general transcription factor IIB	278					gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	nucleoplasm (GO:0005654)	core promoter binding (GO:0001047)|thyroid hormone receptor binding (GO:0046966)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	10		Lung NSC(277;0.123)		all cancers(265;0.0131)|Epithelial(280;0.0255)		CAGCAACACCAGCAATATCTC	0.398																																						ENST00000370500.5																			0				endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	10						c.(832-834)gcT>gcA		general transcription factor IIB							136	136	136					1																	89319013		2203	4300	6503	SO:0001819	synonymous_variant	2959				interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	nucleoplasm	thyroid hormone receptor binding|translation initiation factor activity|zinc ion binding	g.chr1:89319013A>T	M76766	CCDS715.1	1p22-p21	2010-03-23			ENSG00000137947	ENSG00000137947		"General transcription factors"	4648	protein-coding gene	gene with protein product		189963				1876184, 8162052	Standard	NM_001514		Approved	TFIIB	uc001dmo.4	Q00403	OTTHUMG00000010611	ENST00000370500.5:c.834T>A	1.37:g.89319013A>T							p.A278A	NM_001514.5	NP_001505.1	Q00403	TF2B_HUMAN		all cancers(265;0.0131)|Epithelial(280;0.0255)	7	952	-		Lung NSC(277;0.123)	278					A8K1A7|Q5JS30	Silent	SNP	ENST00000370500.5	37	c.834T>A	CCDS715.1	.	.	.	.	.	.	.	.	.	.	A	13.25	2.182196	0.38511	.	.	ENSG00000137947	ENST00000448623	T	0.41758	0.99	5.97	2.31	0.28768	.	.	.	.	.	T	0.34308	0.0893	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.31110	-0.9955	6	0.72032	D	0.01	-12.3919	5.9028	0.18976	0.6048:0.2599:0.1353:0.0	.	.	.	.	R	222	ENSP00000415741:W222R	ENSP00000415741:W222R	W	-	1	0	GTF2B	89091601	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.291000	0.33330	1.094000	0.41399	0.533000	0.62120	TGG		0.398	GTF2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029279.1	NM_001514		49	59	0	0	0	1	0	49	59					T	89319013	A	T	89319013	2	4	100	1	0	0	0	0	0	0	0	1	6855	175	7	5		5	GTF2B	1	89319013	Silent	SNP	A	TCGA-EJ-7789-01A-11D-2114-08	26377635	89319013	159931608	3	5581											
OR2L2	26246	broad.mit.edu	37	chr1	248201938	248201938	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atggcctatgatcgttatgtGgccatttgctttcctctcca	6	16	8	11	1	1	1	0	1	1	0	4	1	2	1	4	2	1	2	4	2	2	4			TCGA-EJ-7789-01A-11D-2114-08	TCGA-EJ-7789-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d415be01-5bb2-4be0-9a02-9c70e461faa3	316e21f4-9c3d-41d4-aafd-5fb3c3743ba2	g.chr1:248201938G>T	ENST00000366479.2	+	1	465	c.369G>T	c.(367-369)gtG>gtT	p.V123V	OR2L13_ENST00000366478.2_Intron	NM_001004686.2	NP_001004686.1	Q8NH16	OR2L2_HUMAN	olfactory receptor, family 2, subfamily L, member 2	123						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(28)|ovary(1)|skin(4)|urinary_tract(1)	42	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0278)			ATCGTTATGTGGCCATTTGCT	0.438																																						ENST00000366479.2																			0				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(28)|ovary(1)|skin(4)|urinary_tract(1)	42						c.(367-369)gtG>gtT		olfactory receptor, family 2, subfamily L, member 2							163	144	150					1																	248201938		2203	4300	6503	SO:0001819	synonymous_variant	26246				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248201938G>T	X64978	CCDS31103.1	1q44	2012-08-09			ENSG00000203663	ENSG00000203663		"GPCR / Class A : Olfactory receptors"	8266	protein-coding gene	gene with protein product				OR2L4P, OR2L12		1370859	Standard	NM_001004686		Approved	HTPCRH07, HSHTPCRH07	uc001idw.3	Q8NH16	OTTHUMG00000040214	ENST00000366479.2:c.369G>T	1.37:g.248201938G>T						OR2L13_ENST00000366478.2_Intron	p.V123V	NM_001004686.2	NP_001004686.1	Q8NH16	OR2L2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0278)		1	465	+	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		123					Q2M3T5	Silent	SNP	ENST00000366479.2	37	c.369G>T	CCDS31103.1																																																																																				0.438	OR2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096871.1	NM_001004686		57	62	1	0	2.3441e-25	1	3.14452e-25	57	62					T	248201938	G	T	248201938	2	4	100	1	0	0	0	0	0	0	0	1	11007	1335	47	5		5	OR2L2	1	248201938	Silent	SNP	G	TCGA-EJ-7789-01A-11D-2114-08	158882925	248201938	1048683	4	5582											
APOB	338	broad.mit.edu	37	chr2	21231311	21231311	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggtttgagagttgtgcatttGcttgaaaatcaaaattgaga	13	14	11	3	0	1	3	1	3	0	2	1	5	1	3	0	1	2	4	0	1	4	5			TCGA-EJ-7789-01A-11D-2114-08	TCGA-EJ-7789-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d415be01-5bb2-4be0-9a02-9c70e461faa3	316e21f4-9c3d-41d4-aafd-5fb3c3743ba2	g.chr2:21231311G>T	ENST00000233242.1	-	26	8556	c.8429C>A	c.(8428-8430)gCa>gAa	p.A2810E		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	2810					artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TTGTGCATTTGCTTGAAAATC	0.453																																						ENST00000233242.1																			0				NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305						c.(8428-8430)gCa>gAa		apolipoprotein B	Atorvastatin(DB01076)						103	105	104					2																	21231311		2203	4300	6503	SO:0001583	missense	338				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	g.chr2:21231311G>T	M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"Apolipoproteins"	603	protein-coding gene	gene with protein product		107730	"apolipoprotein B (including Ag(x) antigen)"				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.8429C>A	2.37:g.21231311G>T	ENSP00000233242:p.Ala2810Glu						p.A2810E	NM_000384.2	NP_000375.2	P04114	APOB_HUMAN			26	8556	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		2810					O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Missense_Mutation	SNP	ENST00000233242.1	37	c.8429C>A	CCDS1703.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.040516	0.75732	.	.	ENSG00000084674	ENST00000233242;ENST00000535079	T	0.00832	5.64	5.36	4.47	0.54385	.	0.000000	0.47093	D	0.000247	T	0.04952	0.0133	M	0.74881	2.28	0.80722	D	1	D	0.76494	0.999	D	0.64595	0.927	T	0.19614	-1.0300	10	0.87932	D	0	.	15.7387	0.77866	0.0:0.1372:0.8628:0.0	.	2810	P04114	APOB_HUMAN	E	2810	ENSP00000233242:A2810E	ENSP00000233242:A2810E	A	-	2	0	APOB	21084816	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	5.639000	0.67868	1.239000	0.43787	0.555000	0.69702	GCA		0.453	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1			42	115	1	0	2.47872e-24	1	3.24595e-24	42	115					T	21231311	G	T	21231311	3	4	100	1	0	0	0	0	1	0	0	0	785	1319	46	5	5278	5	APOB	2	21231311	Missense_Mutation	SNP	G	TCGA-EJ-7789-01A-11D-2114-08		21231311	221968062	5	5583											
POMC	5443	broad.mit.edu	37	chr2	25384212	25384212	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcccggagtcgctggccaGtcagctccctcttgaactcc	5	9	9	18	2	2	1	1	1	1	0	6	2	5	2	5	2	2	2	5	2	1	1			TCGA-EJ-7789-01A-11D-2114-08	TCGA-EJ-7789-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d415be01-5bb2-4be0-9a02-9c70e461faa3	316e21f4-9c3d-41d4-aafd-5fb3c3743ba2	g.chr2:25384212G>A	ENST00000405623.1	-	3	997	c.542C>T	c.(541-543)aCt>aTt	p.T181I	POMC_ENST00000264708.3_Missense_Mutation_p.T181I|POMC_ENST00000380794.1_Missense_Mutation_p.T181I|POMC_ENST00000395826.2_Missense_Mutation_p.T181I|RP11-509E16.1_ENST00000567599.1_lincRNA			P01189	COLI_HUMAN	proopiomelanocortin	181					cell-cell signaling (GO:0007267)|cellular pigmentation (GO:0033059)|cellular protein metabolic process (GO:0044267)|generation of precursor metabolites and energy (GO:0006091)|glucose homeostasis (GO:0042593)|negative regulation of tumor necrosis factor production (GO:0032720)|neuropeptide signaling pathway (GO:0007218)|peptide hormone processing (GO:0016486)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of appetite (GO:0032098)|regulation of blood pressure (GO:0008217)|regulation of corticosterone secretion (GO:2000852)|regulation of glycogen metabolic process (GO:0070873)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|peroxisomal matrix (GO:0005782)|secretory granule (GO:0030141)|secretory granule lumen (GO:0034774)	G-protein coupled receptor binding (GO:0001664)|hormone activity (GO:0005179)|receptor binding (GO:0005102)|type 1 melanocortin receptor binding (GO:0070996)|type 3 melanocortin receptor binding (GO:0031781)|type 4 melanocortin receptor binding (GO:0031782)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(5)|ovary(1)	12	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Loperamide(DB00836)	TCGCTGGCCAGTCAGCTCCCT	0.711																																					Colon(110;1515 1566 8452 10082 43216)	ENST00000405623.1																			0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(5)|ovary(1)	12						c.(541-543)aCt>aTt		proopiomelanocortin	Hydrocortisone(DB00741)|Loperamide(DB00836)|Trilostane(DB01108)						12	12	12					2																	25384212		2199	4293	6492	SO:0001583	missense	5443				cell-cell signaling|cellular nitrogen compound metabolic process|cellular pigmentation|generation of precursor metabolites and energy|hormone biosynthetic process|negative regulation of tumor necrosis factor production|neuropeptide signaling pathway|peptide hormone processing|positive regulation of transcription from RNA polymerase II promoter|regulation of appetite|regulation of blood pressure	extracellular space|stored secretory granule	hormone activity|type 1 melanocortin receptor binding|type 3 melanocortin receptor binding|type 4 melanocortin receptor binding	g.chr2:25384212G>A		CCDS1717.1	2p23	2013-02-25	2008-07-31		ENSG00000115138	ENSG00000115138		"Endogenous ligands"	9201	protein-coding gene	gene with protein product	"adrenocorticotropin", "beta-lipotropin", "alpha-melanocyte stimulating hormone", "beta-melanocyte stimulating hormone", "beta-endorphin", "adrenocorticotropic hormone", "opiomelanocortin prepropeptide"	176830				6254047, 9620771	Standard	NM_001035256		Approved	MSH, POC, CLIP, ACTH, NPP, LPH	uc002rfz.1	P01189	OTTHUMG00000094764	ENST00000405623.1:c.542C>T	2.37:g.25384212G>A	ENSP00000384092:p.Thr181Ile					POMC_ENST00000395826.2_Missense_Mutation_p.T181I|POMC_ENST00000380794.1_Missense_Mutation_p.T181I|POMC_ENST00000264708.3_Missense_Mutation_p.T181I	p.T181I			P01189	COLI_HUMAN			3	997	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		181					P78442|Q53T23|Q9UD39|Q9UD40	Missense_Mutation	SNP	ENST00000405623.1	37	c.542C>T	CCDS1717.1	.	.	.	.	.	.	.	.	.	.	G	5.872	0.344982	0.11126	.	.	ENSG00000115138	ENST00000380794;ENST00000405623;ENST00000264708;ENST00000395826;ENST00000449220	T;T;T;T;T	0.78595	-1.19;-1.19;-1.19;-1.19;-1.19	4.62	2.74	0.32292	.	1.143940	0.06425	N	0.723101	T	0.76586	0.4008	L	0.58101	1.795	0.09310	N	1	B	0.15930	0.015	B	0.16289	0.015	T	0.63937	-0.6524	10	0.87932	D	0	-18.3092	11.8913	0.52630	0.0:0.0:0.6724:0.3276	.	181	P01189	COLI_HUMAN	I	181	ENSP00000370171:T181I;ENSP00000384092:T181I;ENSP00000264708:T181I;ENSP00000379170:T181I;ENSP00000387993:T181I	ENSP00000264708:T181I	T	-	2	0	POMC	25237716	0.034000	0.19679	0.101000	0.21167	0.027000	0.11550	1.476000	0.35420	0.336000	0.23639	-0.475000	0.04921	ACT		0.711	POMC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211573.3	NM_001035256		3	10	0	0	0	1	0	3	10					A	25384212	G	A	25384212	3	1	100	1	0	0	0	0	1	0	0	0	12242	1029	36	3	265	3	POMC	2	25384212	Missense_Mutation	SNP	G	TCGA-EJ-7789-01A-11D-2114-08	4152901	25384212	217815161	6	5584											
CNTN3	5067	broad.mit.edu	37	chr3	74474079	74474079	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tactcctcattttggttttaAaattttcaagatctgatttg	10	20	5	6	0	3	2	2	1	1	1	4	2	4	2	1	1	1	1	1	1	4	8			TCGA-EJ-7789-01A-11D-2114-08	TCGA-EJ-7789-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d415be01-5bb2-4be0-9a02-9c70e461faa3	316e21f4-9c3d-41d4-aafd-5fb3c3743ba2	g.chr3:74474079A>T	ENST00000263665.6	-	4	398	c.371T>A	c.(370-372)tTt>tAt	p.F124Y		NM_020872.1	NP_065923.1	Q9P232	CNTN3_HUMAN	contactin 3 (plasmacytoma associated)	124	Ig-like C2-type 2.				cell adhesion (GO:0007155)|nervous system development (GO:0007399)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(39)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	83		Lung NSC(201;0.138)|Lung SC(41;0.21)		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)		TTTGGTTTTAAAATTTTCAAG	0.398																																						ENST00000263665.6																			0				NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(39)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	83						c.(370-372)tTt>tAt		contactin 3 (plasmacytoma associated)							50	49	49					3																	74474079		2203	4300	6503	SO:0001583	missense	5067				cell adhesion	anchored to membrane|plasma membrane	protein binding	g.chr3:74474079A>T	AB040929	CCDS33790.1	3p12.3	2013-02-11			ENSG00000113805	ENSG00000113805		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	2173	protein-coding gene	gene with protein product		601325		PANG		8661054, 8586965	Standard	XM_005264757		Approved	BIG-1	uc003dpm.1	Q9P232	OTTHUMG00000158813	ENST00000263665.6:c.371T>A	3.37:g.74474079A>T	ENSP00000263665:p.Phe124Tyr						p.F124Y	NM_020872.1	NP_065923.1	Q9P232	CNTN3_HUMAN		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)	4	398	-		Lung NSC(201;0.138)|Lung SC(41;0.21)	124			Ig-like C2-type 2.		B9EK50|Q9H039	Missense_Mutation	SNP	ENST00000263665.6	37	c.371T>A	CCDS33790.1	.	.	.	.	.	.	.	.	.	.	A	24.3	4.518138	0.85495	.	.	ENSG00000113805	ENST00000263665	T	0.76448	-1.02	4.98	4.98	0.66077	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.127542	0.56097	D	0.000029	D	0.89259	0.6664	H	0.95539	3.685	0.50171	D	0.999855	P	0.52061	0.95	P	0.56343	0.796	D	0.91991	0.5603	10	0.72032	D	0.01	.	12.9418	0.58350	1.0:0.0:0.0:0.0	.	124	Q9P232	CNTN3_HUMAN	Y	124	ENSP00000263665:F124Y	ENSP00000263665:F124Y	F	-	2	0	CNTN3	74556769	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	5.006000	0.63978	2.005000	0.58758	0.448000	0.29417	TTT		0.398	CNTN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352306.1	NM_020872		8	11	0	0	0	1	0	8	11					T	74474079	A	T	74474079	3	4	100	1	0	0	0	0	1	0	0	0	3642	14	1	5	2791	5	CNTN3	3	74474079	Missense_Mutation	SNP	A	TCGA-EJ-7789-01A-11D-2114-08		74474079	123548351	7	5585											
C3orf79	152118	broad.mit.edu	37	chr3	153202433	153202433	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcagttgccatcttctgcctActcctgagctttcatccaag	7	14	6	14	0	4	1	2	1	2	0	6	1	6	1	4	0	4	2	4	0	2	4			TCGA-EJ-7789-01A-11D-2114-08	TCGA-EJ-7789-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d415be01-5bb2-4be0-9a02-9c70e461faa3	316e21f4-9c3d-41d4-aafd-5fb3c3743ba2	g.chr3:153202433A>C	ENST00000446603.2	+	1	150	c.88A>C	c.(88-90)Act>Cct	p.T30P	RP11-23D24.2_ENST00000493214.2_RNA	NM_001101337.1	NP_001094807.1	P0CE67	CC079_HUMAN	chromosome 3 open reading frame 79	30										endometrium(1)|large_intestine(3)	4						TCTTCTGCCTACTCCTGAGCT	0.433																																						ENST00000446603.2																			0				endometrium(1)|large_intestine(3)	4						c.(88-90)Act>Cct		chromosome 3 open reading frame 79							277	263	268					3																	153202433		1923	4141	6064	SO:0001583	missense	152118							g.chr3:153202433A>C	AF086445	CCDS46937.1	3q25.2	2009-09-30			ENSG00000237787	ENSG00000237787			37259	protein-coding gene	gene with protein product							Standard	NM_001101337		Approved		uc003ezt.3	P0CE67	OTTHUMG00000159629	ENST00000446603.2:c.88A>C	3.37:g.153202433A>C	ENSP00000389475:p.Thr30Pro					RP11-23D24.2_ENST00000493214.2_RNA	p.T30P	NM_001101337.1	NP_001094807.1	P0CE67	CC079_HUMAN			1	150	+			30						Missense_Mutation	SNP	ENST00000446603.2	37	c.88A>C	CCDS46937.1	.	.	.	.	.	.	.	.	.	.	A	9.449	1.089976	0.20390	.	.	ENSG00000237787	ENST00000446603	.	.	.	3.23	-4.39	0.03611	.	.	.	.	.	T	0.14570	0.0352	N	0.08118	0	0.09310	N	1	B	0.24258	0.1	B	0.24848	0.056	T	0.21930	-1.0231	8	0.87932	D	0	.	1.3829	0.02234	0.2713:0.1752:0.382:0.1715	.	30	P0CE67	CC079_HUMAN	P	30	.	ENSP00000389475:T30P	T	+	1	0	C3orf79	154685123	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-0.559000	0.05971	-0.931000	0.03746	0.533000	0.62120	ACT		0.433	C3orf79-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356570.1	NM_001101337		124	154	0	0	0	1	0	124	154					C	153202433	A	C	153202433	3	2	100	1	0	0	0	0	1	0	0	0	2246	391	14	5	90	5	C3orf79	3	153202433	Missense_Mutation	SNP	A	TCGA-EJ-7789-01A-11D-2114-08	78728354	153202433	44819997	8	5586											
ELOVL6	79071	broad.mit.edu	37	chr4	110972803	110972803	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcatagtcatgaaccaaccTcccccggcaaccatgtcttt	10	11	5	15	1	3	1	2	1	1	0	4	1	4	1	5	1	3	1	5	1	4	3			TCGA-EJ-7789-01A-11D-2114-08	TCGA-EJ-7789-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d415be01-5bb2-4be0-9a02-9c70e461faa3	316e21f4-9c3d-41d4-aafd-5fb3c3743ba2	g.chr4:110972803T>C	ENST00000394607.3	-	5	652	c.489A>G	c.(487-489)ggA>ggG	p.G163G	ELOVL6_ENST00000302274.3_Silent_p.G163G			Q9H5J4	ELOV6_HUMAN	ELOVL fatty acid elongase 6	163					cellular lipid metabolic process (GO:0044255)|fatty acid elongation, saturated fatty acid (GO:0019367)|long-chain fatty acid biosynthetic process (GO:0042759)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)	transferase activity, transferring acyl groups other than amino-acyl groups (GO:0016747)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)	8				OV - Ovarian serous cystadenocarcinoma(123;0.00462)		TGAACCAACCTCCCCCGGCAA	0.517																																						ENST00000394607.3																			0				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)	8						c.(487-489)ggA>ggG		ELOVL fatty acid elongase 6							65	58	61					4																	110972803		2203	4300	6503	SO:0001819	synonymous_variant	79071				fatty acid elongation, saturated fatty acid|long-chain fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process		fatty acid elongase activity|protein binding	g.chr4:110972803T>C	AK027031	CCDS3690.1	4q25	2011-05-25	2011-05-25		ENSG00000170522	ENSG00000170522			15829	protein-coding gene	gene with protein product		611546	"ELOVL family member 6, elongation of long chain fatty acids (FEN1/Elo2, SUR4/Elo3-like, yeast)"			11567032	Standard	NM_024090		Approved	FLJ23378, MGC5487, LCE	uc003hzz.3	Q9H5J4	OTTHUMG00000132547	ENST00000394607.3:c.489A>G	4.37:g.110972803T>C						ELOVL6_ENST00000302274.3_Silent_p.G163G	p.G163G			Q9H5J4	ELOV6_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.00462)	5	652	-			163					Q4W5L0|Q8NCD1	Silent	SNP	ENST00000394607.3	37	c.489A>G	CCDS3690.1																																																																																				0.517	ELOVL6-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255748.1	NM_024090		3	53	0	0	0	1	0	3	53					C	110972803	T	C	110972803	2	2	100	1	0	0	0	0	0	0	0	1	5078	1538	54	4		4	ELOVL6	4	110972803	Silent	SNP	T	TCGA-EJ-7789-01A-11D-2114-08		110972803	80181473	9	5587											
DNAH5	1767	broad.mit.edu	37	chr5	13700941	13700941	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gacttcattgcaaagcaccaTattgtccagagcccagcctt	11	10	7	13	0	1	1	1	0	0	1	2	2	2	1	4	0	4	2	4	0	2	5			TCGA-EJ-7789-01A-11D-2114-08	TCGA-EJ-7789-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d415be01-5bb2-4be0-9a02-9c70e461faa3	316e21f4-9c3d-41d4-aafd-5fb3c3743ba2	g.chr5:13700941T>C	ENST00000265104.4	-	78	13635	c.13531A>G	c.(13531-13533)Atg>Gtg	p.M4511V		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	4511					cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					CAAAGCACCATATTGTCCAGA	0.463									Kartagener syndrome																													ENST00000265104.4																			0				NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378						c.(13531-13533)Atg>Gtg		dynein, axonemal, heavy chain 5							149	139	142					5																	13700941		2203	4300	6503	SO:0001583	missense	1767	Kartagener syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr5:13700941T>C	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"Axonemal dyneins"	2950	protein-coding gene	gene with protein product	"dynein heavy chain 5"	603335	"dynein, axonemal, heavy polypeptide 5"			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.13531A>G	5.37:g.13700941T>C	ENSP00000265104:p.Met4511Val						p.M4511V	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN			78	13635	-	Lung NSC(4;0.00476)		4511					Q92860|Q96L74|Q9H5S7|Q9HCG9	Missense_Mutation	SNP	ENST00000265104.4	37	c.13531A>G	CCDS3882.1	.	.	.	.	.	.	.	.	.	.	T	2.942	-0.218585	0.06101	.	.	ENSG00000039139	ENST00000265104	T	0.08008	3.14	5.95	3.48	0.39840	Dynein heavy chain (1);	0.138121	0.64402	D	0.000003	T	0.01730	0.0055	N	0.00621	-1.32	0.45227	D	0.998232	B	0.02656	0.0	B	0.01281	0.0	T	0.36456	-0.9747	10	0.02654	T	1	.	4.439	0.11564	0.0:0.2147:0.1715:0.6138	.	4511	Q8TE73	DYH5_HUMAN	V	4511	ENSP00000265104:M4511V	ENSP00000265104:M4511V	M	-	1	0	DNAH5	13753941	0.998000	0.40836	0.997000	0.53966	0.996000	0.88848	1.812000	0.38952	1.045000	0.40225	0.528000	0.53228	ATG		0.463	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369		138	70	0	0	0	1	0	138	70					C	13700941	T	C	13700941	3	2	100	1	0	0	0	0	1	0	0	0	4604	1406	49	4	351	4	DNAH5	5	13700941	Missense_Mutation	SNP	T	TCGA-EJ-7789-01A-11D-2114-08		13700941	167214319	10	5588											
ADRA1B	147	broad.mit.edu	37	chr5	159344742	159344742	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caagggccacaaccccaggaGttccatagctgtcaaacttt	12	8	8	13	0	1	0	1	0	0	0	2	1	2	1	4	2	3	2	4	2	4	3			TCGA-EJ-7789-01A-11D-2114-08	TCGA-EJ-7789-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d415be01-5bb2-4be0-9a02-9c70e461faa3	316e21f4-9c3d-41d4-aafd-5fb3c3743ba2	g.chr5:159344742G>A	ENST00000306675.3	+	1	953	c.830G>A	c.(829-831)aGt>aAt	p.S277N		NM_000679.3	NP_000670.1	P35368	ADA1B_HUMAN	adrenoceptor alpha 1B	277					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|adrenergic receptor signaling pathway (GO:0071875)|adult heart development (GO:0007512)|behavioral response to cocaine (GO:0048148)|blood vessel remodeling (GO:0001974)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|intracellular signal transduction (GO:0035556)|locomotory behavior (GO:0007626)|multicellular organismal development (GO:0007275)|negative regulation of glycogen catabolic process (GO:0045818)|organ growth (GO:0035265)|positive regulation of glycogen catabolic process (GO:0045819)|positive regulation of heart rate by epinephrine-norepinephrine (GO:0001996)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of the force of heart contraction by epinephrine-norepinephrine (GO:0001997)|regulation of cardiac muscle contraction (GO:0055117)|regulation of vasoconstriction (GO:0019229)|response to amphetamine (GO:0001975)|response to morphine (GO:0043278)|vasoconstriction of artery involved in baroreceptor response to lowering of systemic arterial blood pressure (GO:0001987)|visual learning (GO:0008542)	integral component of plasma membrane (GO:0005887)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	alpha1-adrenergic receptor activity (GO:0004937)|protein heterodimerization activity (GO:0046982)			endometrium(3)|large_intestine(6)|lung(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Acepromazine(DB01614)|Alfuzosin(DB00346)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Amphetamine(DB00182)|Aripiprazole(DB01238)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Clonidine(DB00575)|Clozapine(DB00363)|Dapiprazole(DB00298)|Desipramine(DB01151)|Dextroamphetamine(DB01576)|Doxazosin(DB00590)|Doxepin(DB01142)|Dronedarone(DB04855)|Droxidopa(DB06262)|Epinephrine(DB00668)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Imipramine(DB00458)|Labetalol(DB00598)|Lisdexamfetamine(DB01255)|Loxapine(DB00408)|Maprotiline(DB00934)|Mephentermine(DB01365)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Mianserin(DB06148)|Midodrine(DB00211)|Mirtazapine(DB00370)|Modafinil(DB00745)|Nefazodone(DB01149)|Nicardipine(DB00622)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxymetazoline(DB00935)|Paliperidone(DB01267)|Pergolide(DB01186)|Phendimetrazine(DB01579)|Phenoxybenzamine(DB00925)|Phenylephrine(DB00388)|Prazosin(DB00457)|Promazine(DB00420)|Propericiazine(DB01608)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Sertindole(DB06144)|Silodosin(DB06207)|Tamsulosin(DB00706)|Terazosin(DB01162)|Thioproperazine(DB01622)|Thioridazine(DB00679)|Trimipramine(DB00726)|Xylometazoline(DB06694)|Ziprasidone(DB00246)	AACCCCAGGAGTTCCATAGCT	0.502																																						ENST00000306675.3																			0				endometrium(3)|large_intestine(6)|lung(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(829-831)aGt>aAt		adrenoceptor alpha 1B	Alfuzosin(DB00346)|Bethanidine(DB00217)|Dapiprazole(DB00298)|Debrisoquin(DB04840)|Dextroamphetamine(DB01576)|Doxazosin(DB00590)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Guanfacine(DB01018)|Labetalol(DB00598)|Lisdexamfetamine(DB01255)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Midodrine(DB00211)|Modafinil(DB00745)|Nefazodone(DB01149)|Norepinephrine(DB00368)|Olanzapine(DB00334)|Phendimetrazine(DB01579)|Phenylephrine(DB00388)|Prazosin(DB00457)|Promazine(DB00420)|Propericiazine(DB01608)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Sertindole(DB06144)|Tamsulosin(DB00706)|Terazosin(DB01162)|Trazodone(DB00656)						85	87	86					5																	159344742		2203	4300	6503	SO:0001583	missense	147				cell proliferation|cell-cell signaling|G-protein signaling, coupled to cAMP nucleotide second messenger|intracellular protein kinase cascade	integral to plasma membrane	alpha1-adrenergic receptor activity	g.chr5:159344742G>A	L31773	CCDS4347.1	5q33.3	2012-08-08	2012-05-09		ENSG00000170214	ENSG00000170214		"GPCR / Class A : Adrenoceptors : alpha"	278	protein-coding gene	gene with protein product		104220	"adrenergic, alpha-1B-, receptor"				Standard	XM_005265818		Approved		uc003lxt.1	P35368	OTTHUMG00000130327	ENST00000306675.3:c.830G>A	5.37:g.159344742G>A	ENSP00000306662:p.Ser277Asn						p.S277N	NM_000679.3	NP_000670.1	P35368	ADA1B_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		1	953	+	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	277					B0LPE1	Missense_Mutation	SNP	ENST00000306675.3	37	c.830G>A	CCDS4347.1	.	.	.	.	.	.	.	.	.	.	G	10.68	1.418360	0.25552	.	.	ENSG00000170214	ENST00000306675	T	0.62788	0.0	5.93	4.96	0.65561	GPCR, rhodopsin-like superfamily (1);	0.164536	0.64402	D	0.000001	T	0.55465	0.1922	L	0.58925	1.835	0.43503	D	0.995759	B	0.14805	0.011	B	0.21151	0.033	T	0.53279	-0.8461	10	0.39692	T	0.17	.	8.4512	0.32871	0.1512:0.0:0.8488:0.0	.	277	P35368	ADA1B_HUMAN	N	277	ENSP00000306662:S277N	ENSP00000306662:S277N	S	+	2	0	ADRA1B	159277320	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.408000	0.66368	2.826000	0.97356	0.655000	0.94253	AGT		0.502	ADRA1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252676.1			3	118	0	0	0	1	0	3	118					A	159344742	G	A	159344742	3	1	100	1	0	0	0	0	1	0	0	0	335	1029	36	3	832	3	ADRA1B	5	159344742	Missense_Mutation	SNP	G	TCGA-EJ-7789-01A-11D-2114-08	145643801	159344742	21570518	11	5589											
SYCP2L	221711	broad.mit.edu	37	chr6	10928671	10928671	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ccgttcggggtccctgacttCccgcaacaacctgtgagtac	7	9	10	15	3	0	2	0	2	0	0	3	2	2	2	4	2	3	3	4	2	3	3	rs377724008		TCGA-EJ-7789-01A-11D-2114-08	TCGA-EJ-7789-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d415be01-5bb2-4be0-9a02-9c70e461faa3	316e21f4-9c3d-41d4-aafd-5fb3c3743ba2	g.chr6:10928671C>T	ENST00000283141.6	+	18	1772	c.1476C>T	c.(1474-1476)ttC>ttT	p.F492F	RP11-637O19.3_ENST00000480294.1_Intron|SYCP2L_ENST00000543878.1_Intron	NM_001040274.2	NP_001035364.2	Q5T4T6	SYC2L_HUMAN	synaptonemal complex protein 2-like	492						nucleus (GO:0005634)				breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	36	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)	Epithelial(50;0.239)			tccctgacttcccgcaacaAC	0.498													C|||	1	0.000199681	0	0	5008	,	,		18183	0		0	False		,,,				2504	0.001					ENST00000283141.6																			0				breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	36						c.(1474-1476)ttC>ttT		synaptonemal complex protein 2-like		C		1,3779		0,1,1889	85	90	88		1476	-0.1	0	6		88	0,8198		0,0,4099	no	coding-synonymous	SYCP2L	NM_001040274.2		0,1,5988	TT,TC,CC		0.0,0.0265,0.0083		492/813	10928671	1,11977	1890	4099	5989	SO:0001819	synonymous_variant	221711					nucleus		g.chr6:10928671C>T	AK128130	CCDS43423.1	6p24.2	2008-11-06	2007-07-02	2007-07-02	ENSG00000153157	ENSG00000153157			21537	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 177"	C6orf177			Standard	NM_001040274		Approved	dJ62D2.1, NO145	uc003mzo.3	Q5T4T6	OTTHUMG00000014250	ENST00000283141.6:c.1476C>T	6.37:g.10928671C>T						RP11-637O19.3_ENST00000480294.1_Intron|SYCP2L_ENST00000543878.1_Intron	p.F492F	NM_001040274.2	NP_001035364.2	Q5T4T6	SYC2L_HUMAN	Epithelial(50;0.239)		18	1772	+	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)	492					A6NDS5|Q08GK5|Q6ZRM2|Q96EJ2	Silent	SNP	ENST00000283141.6	37	c.1476C>T	CCDS43423.1																																																																																				0.498	SYCP2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039845.3	NM_194299		24	25	0	0	0	1	0	24	25					T	10928671	C	T	10928671	2	4	100	1	0	0	0	0	0	0	0	1	15430	854	30	3		3	SYCP2L	6	10928671	Silent	SNP	C	TCGA-EJ-7789-01A-11D-2114-08		10928671	160186396	12	5590											
HLA-DRA	3122	broad.mit.edu	37	chr6	32411650	32411650	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cttcatcatcaagggattgcGcaaaagcaatgcagcagaac	15	7	9	10	1	3	1	3	0	0	1	3	2	3	2	0	1	5	4	0	1	5	2			TCGA-EJ-7789-01A-11D-2114-08	TCGA-EJ-7789-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d415be01-5bb2-4be0-9a02-9c70e461faa3	316e21f4-9c3d-41d4-aafd-5fb3c3743ba2	g.chr6:32411650G>A	ENST00000374982.5	+	4	726	c.653G>A	c.(652-654)cGc>cAc	p.R218H	HLA-DRA_ENST00000395388.2_Missense_Mutation_p.R243H			P01903	DRA_HUMAN	major histocompatibility complex, class II, DR alpha	243					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide or polysaccharide antigen via MHC class II (GO:0002504)|cognition (GO:0050890)|cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)|interferon-gamma-mediated signaling pathway (GO:0060333)|peptide antigen assembly with MHC class II protein complex (GO:0002503)|polysaccharide assembly with MHC class II protein complex (GO:0002506)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)	cell surface (GO:0009986)|clathrin-coated endocytic vesicle membrane (GO:0030669)|endocytic vesicle membrane (GO:0030666)|ER to Golgi transport vesicle membrane (GO:0012507)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|integral component of plasma membrane (GO:0005887)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|MHC class II protein complex (GO:0042613)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)|transport vesicle membrane (GO:0030658)	MHC class II protein complex binding (GO:0023026)|MHC class II receptor activity (GO:0032395)|peptide antigen binding (GO:0042605)			NS(1)|breast(1)|large_intestine(6)|lung(5)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	19						AAGGGATTGCGCAAAAGCAAT	0.537									T-cell Lymphoma, (Cutaneous) , Familial Clustering of;Kaposi Sarcoma, Familial Clustering of																													ENST00000395388.2																			0				NS(1)|breast(1)|large_intestine(6)|lung(5)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	19						c.(727-729)cGc>cAc		major histocompatibility complex, class II, DR alpha							141	127	132					6																	32411650		1511	2709	4220	SO:0001583	missense	3122	T-cell Lymphoma, (Cutaneous) , Familial Clustering of;Kaposi Sarcoma, Familial Clustering of	Familial Cancer Database	incl.: Mycosis Fungoides, Sezary syndrome, Adult T-cell Lymphoma;	antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway	endoplasmic reticulum membrane|Golgi apparatus|integral to plasma membrane|late endosome membrane|lysosomal membrane|MHC class II protein complex	MHC class II receptor activity	g.chr6:32411650G>A		CCDS4750.1	6p21.3	2013-01-11			ENSG00000204287	ENSG00000204287		"Histocompatibility complex", "Immunoglobulin superfamily / C1-set domain containing"	4947	protein-coding gene	gene with protein product		142860		HLA-DRA1			Standard	NM_019111		Approved		uc003obh.3	P01903	OTTHUMG00000031269	ENST00000374982.5:c.653G>A	6.37:g.32411650G>A	ENSP00000364121:p.Arg218His					HLA-DRA_ENST00000374982.5_Missense_Mutation_p.R218H	p.R243H	NM_019111.4	NP_061984.2	P01903	DRA_HUMAN			4	837	+			243					A2BET4|Q30160|Q6IAZ1|Q861I2|Q9TP70	Missense_Mutation	SNP	ENST00000374982.5	37	c.728G>A		.	.	.	.	.	.	.	.	.	.	.	13.43	2.234638	0.39498	.	.	ENSG00000204287	ENST00000395388;ENST00000374982	T;T	0.02258	4.37;4.64	5.36	-0.67	0.11384	.	0.860159	0.10129	N	0.712374	T	0.01124	0.0037	M	0.62016	1.91	0.09310	N	1	B;B	0.14012	0.007;0.009	B;B	0.12156	0.005;0.007	T	0.39461	-0.9613	10	0.62326	D	0.03	.	9.3498	0.38131	0.418:0.0:0.582:0.0	.	218;243	Q30118;P01903	.;DRA_HUMAN	H	243;218	ENSP00000378786:R243H;ENSP00000364121:R218H	ENSP00000364121:R218H	R	+	2	0	HLA-DRA	32519628	0.073000	0.21202	0.001000	0.08648	0.208000	0.24298	0.665000	0.25083	-0.333000	0.08476	0.573000	0.79308	CGC		0.537	HLA-DRA-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000076587.3	NM_019111		39	46	0	0	0	1	0	39	46					A	32411650	G	A	32411650	3	1	100	1	0	0	0	0	1	0	0	0	7207	1087	38	1	742	1	HLA-DRA	6	32411650	Missense_Mutation	SNP	G	TCGA-EJ-7789-01A-11D-2114-08	21482979	32411650	138703417	13	5591											
FTSJD2	23070	broad.mit.edu	37	chr6	37426394	37426394	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acttgcctttgcagaagccaCtggtgaaggaccgggaagct	10	8	13	10	1	0	2	0	1	0	1	0	4	0	4	3	3	4	2	3	3	3	2			TCGA-EJ-7789-01A-11D-2114-08	TCGA-EJ-7789-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d415be01-5bb2-4be0-9a02-9c70e461faa3	316e21f4-9c3d-41d4-aafd-5fb3c3743ba2	g.chr6:37426394C>T	ENST00000373451.4	+	9	948	c.784C>T	c.(784-786)Ctg>Ttg	p.L262L		NM_015050.2	NP_055865.1	Q8N1G2	CMTR1_HUMAN	cap methyltransferase 1	262	RrmJ-type SAM-dependent 2'-O-MTase. {ECO:0000255|PROSITE-ProRule:PRU00945}.				7-methylguanosine mRNA capping (GO:0006370)|cap1 mRNA methylation (GO:0097309)|mRNA methylation (GO:0080009)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	mRNA (nucleoside-2'-O-)-methyltransferase activity (GO:0004483)|nucleic acid binding (GO:0003676)										GCAGAAGCCACTGGTGAAGGA	0.522																																						ENST00000373451.4																			0				breast(3)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(6)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(2)	31						c.(784-786)Ctg>Ttg									57	52	54					6																	37426394		2203	4300	6503	SO:0001819	synonymous_variant	0				mRNA capping	cytoplasm|nucleus	mRNA (nucleoside-2'-O-)-methyltransferase activity|nucleic acid binding	g.chr6:37426394C>T	BC031890	CCDS4835.1	6p21.2	2013-07-23	2013-07-23	2013-07-23	ENSG00000137200	ENSG00000137200	2.1.1.57	"G patch domain containing"	21077	protein-coding gene	gene with protein product			"KIAA0082", "FtsJ methyltransferase domain containing 2"	KIAA0082, FTSJD2		20713356	Standard	NM_015050		Approved	MTr1, ISG95	uc003ons.3	Q8N1G2	OTTHUMG00000014624	ENST00000373451.4:c.784C>T	6.37:g.37426394C>T							p.L262L	NM_015050.2	NP_055865.1	Q8N1G2	MTR1_HUMAN			9	948	+			262					A8K949|Q14670|Q96FJ9	Silent	SNP	ENST00000373451.4	37	c.784C>T	CCDS4835.1																																																																																				0.522	CMTR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040408.1	NM_015050		13	22	0	0	0	1	0	13	22					T	37426394	C	T	37426394	2	4	100	1	0	0	0	0	0	0	0	1	6091	564	20	3		3	FTSJD2	6	37426394	Silent	SNP	C	TCGA-EJ-7789-01A-11D-2114-08	5014744	37426394	133688673	14	5592											
SDK1	221935	broad.mit.edu	37	chr7	3990593	3990593	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaccatggccccaaccattGtggttcccccgggcaacaga	11	6	9	15	1	0	1	0	0	0	1	1	1	1	1	6	3	3	2	6	3	3	2			TCGA-EJ-7789-01A-11D-2114-08	TCGA-EJ-7789-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d415be01-5bb2-4be0-9a02-9c70e461faa3	316e21f4-9c3d-41d4-aafd-5fb3c3743ba2	g.chr7:3990593G>T	ENST00000404826.2	+	6	1025	c.886G>T	c.(886-888)Gtg>Ttg	p.V296L	SDK1_ENST00000389531.3_Missense_Mutation_p.V296L	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	296	Ig-like C2-type 3.				cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		CCCAACCATTGTGGTTCCCCC	0.552																																						ENST00000404826.2																			0				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153						c.(886-888)Gtg>Ttg		sidekick cell adhesion molecule 1							103	78	87					7																	3990593		2203	4300	6503	SO:0001583	missense	221935				cell adhesion	integral to membrane		g.chr7:3990593G>T	AK074077	CCDS34590.1	7p22.3	2013-02-11	2011-12-09		ENSG00000146555	ENSG00000146555		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	19307	protein-coding gene	gene with protein product		607216	"sidekick homolog 1 (chicken)", "sidekick homolog 1, cell adhesion molecule (chicken)"			12230981, 17307840, 15213259	Standard	NM_001079653		Approved	FLJ31425	uc003smx.3	Q7Z5N4	OTTHUMG00000151733	ENST00000404826.2:c.886G>T	7.37:g.3990593G>T	ENSP00000385899:p.Val296Leu					SDK1_ENST00000389531.3_Missense_Mutation_p.V296L	p.V296L	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)	6	1025	+		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)	296			Ig-like C2-type 3.		Q8TEN9|Q8TEP5|Q96N44	Missense_Mutation	SNP	ENST00000404826.2	37	c.886G>T	CCDS34590.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.91|18.91	3.723522|3.723522	0.68959|0.68959	.|.	.|.	ENSG00000146555|ENSG00000146555	ENST00000426596|ENST00000404826;ENST00000389531	.|T;T	.|0.03094	.|4.05;4.05	5.61|5.61	5.61|5.61	0.85477|0.85477	.|Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.|0.000000	.|0.64402	.|D	.|0.000013	T|T	0.13841|0.13841	0.0335|0.0335	L|L	0.42632|0.42632	1.34|1.34	0.47994|0.47994	D|D	0.999561|0.999561	.|D	.|0.71674	.|0.998	.|D	.|0.83275	.|0.996	T|T	0.00300|0.00300	-1.1835|-1.1835	5|10	.|0.62326	.|D	.|0.03	.|.	17.8203|17.8203	0.88648|0.88648	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|296	.|Q7Z5N4	.|SDK1_HUMAN	F|L	14|296	.|ENSP00000385899:V296L;ENSP00000374182:V296L	.|ENSP00000374182:V296L	L|V	+|+	3|1	2|0	SDK1|SDK1	3957119|3957119	1.000000|1.000000	0.71417|0.71417	0.308000|0.308000	0.25141|0.25141	0.514000|0.514000	0.34195|0.34195	4.957000|4.957000	0.63652|0.63652	2.632000|2.632000	0.89209|0.89209	0.655000|0.655000	0.94253|0.94253	TTG|GTG		0.552	SDK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323702.1	NM_152744		30	49	1	0	2.42023e-17	1	3.09565e-17	30	49					T	3990593	G	T	3990593	3	4	100	1	0	0	0	0	1	0	0	0	13968	1377	48	5	908	5	SDK1	7	3990593	Missense_Mutation	SNP	G	TCGA-EJ-7789-01A-11D-2114-08		3990593	155148070	15	5593											
POM121L12	285877	broad.mit.edu	37	chr7	53104151	53104151	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggtccagcccgccccatccGccatctgggacttctgggag	5	8	12	16	2	2	0	0	0	2	0	4	2	4	2	6	3	1	0	6	3	0	1			TCGA-EJ-7789-01A-11D-2114-08	TCGA-EJ-7789-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d415be01-5bb2-4be0-9a02-9c70e461faa3	316e21f4-9c3d-41d4-aafd-5fb3c3743ba2	g.chr7:53104151G>A	ENST00000408890.4	+	1	803	c.787G>A	c.(787-789)Gcc>Acc	p.A263T		NM_182595.3	NP_872401.3	Q8N7R1	P1L12_HUMAN	POM121 transmembrane nucleoporin-like 12	263										endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						CGCCCCATCCGCCATCTGGGA	0.662																																						ENST00000408890.4																			0				endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						c.(787-789)Gcc>Acc		POM121 transmembrane nucleoporin-like 12							49	55	53					7																	53104151		2014	4176	6190	SO:0001583	missense	285877							g.chr7:53104151G>A		CCDS43584.1	7p12.1	2012-03-13	2012-03-13		ENSG00000221900	ENSG00000221900			25369	protein-coding gene	gene with protein product			"POM121 membrane glycoprotein-like 12"				Standard	NM_182595		Approved	DKFZp564N2472	uc003tpz.3	Q8N7R1	OTTHUMG00000155995	ENST00000408890.4:c.787G>A	7.37:g.53104151G>A	ENSP00000386133:p.Ala263Thr						p.A263T	NM_182595.3	NP_872401.3	Q8N7R1	P1L12_HUMAN			1	803	+			263					Q8NDI9	Missense_Mutation	SNP	ENST00000408890.4	37	c.787G>A	CCDS43584.1	.	.	.	.	.	.	.	.	.	.	G	13.92	2.381964	0.42207	.	.	ENSG00000221900	ENST00000408890	T	0.30714	1.52	2.16	-0.192	0.13248	.	.	.	.	.	T	0.10766	0.0263	N	0.08118	0	0.09310	N	1	P	0.37997	0.614	B	0.23275	0.045	T	0.15723	-1.0427	9	0.72032	D	0.01	.	4.2117	0.10514	0.5664:0.0:0.4336:0.0	.	263	Q8N7R1	P1L12_HUMAN	T	263	ENSP00000386133:A263T	ENSP00000386133:A263T	A	+	1	0	POM121L12	53071645	0.007000	0.16637	0.000000	0.03702	0.004000	0.04260	1.338000	0.33873	-0.041000	0.13558	0.561000	0.74099	GCC		0.662	POM121L12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342656.1	NM_182595		53	34	0	0	0	1	0	53	34					A	53104151	G	A	53104151	3	1	100	1	0	0	0	0	1	0	0	0	12241	1087	38	1	789	1	POM121L12	7	53104151	Missense_Mutation	SNP	G	TCGA-EJ-7789-01A-11D-2114-08	49113558	53104151	106034512	16	5594											
KRIT1	889	broad.mit.edu	37	chr7	91870306	91870306	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tttaaaaaagaagtttcctaCctctgataccctggtttgca	12	14	6	9	0	1	2	0	1	1	1	2	2	2	2	3	1	3	3	3	1	6	6			TCGA-EJ-7789-01A-11D-2114-08	TCGA-EJ-7789-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d415be01-5bb2-4be0-9a02-9c70e461faa3	316e21f4-9c3d-41d4-aafd-5fb3c3743ba2	g.chr7:91870306C>T	ENST00000340022.2	-	5	1281		c.e5+1		KRIT1_ENST00000394505.2_Splice_Site|KRIT1_ENST00000394507.1_Splice_Site|KRIT1_ENST00000394503.2_Splice_Site|KRIT1_ENST00000412043.2_Splice_Site	NM_004912.3|NM_194455.1	NP_004903.2|NP_919437.1	O00522	KRIT1_HUMAN	KRIT1, ankyrin repeat containing						angiogenesis (GO:0001525)|cell redox homeostasis (GO:0045454)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|positive regulation of protein binding (GO:0032092)|regulation of catalytic activity (GO:0050790)|regulation of establishment of cell polarity (GO:2000114)|small GTPase mediated signal transduction (GO:0007264)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|microtubule (GO:0005874)|plasma membrane (GO:0005886)	microtubule binding (GO:0008017)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein complex binding (GO:0032403)|small GTPase regulator activity (GO:0005083)			autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(2)|stomach(1)	22	all_cancers(62;1.04e-09)|all_epithelial(64;5.75e-09)|Breast(17;0.00206)|all_lung(186;0.0509)|Lung NSC(181;0.0692)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			AAGTTTCCTACCTCTGATACC	0.318																																						ENST00000394507.1																			0				autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(2)|stomach(1)	22						c.e6+1		KRIT1, ankyrin repeat containing							162	148	153					7																	91870306		2203	4300	6503	SO:0001630	splice_region_variant	889				angiogenesis|cell redox homeostasis|negative regulation of angiogenesis|negative regulation of endothelial cell apoptosis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|regulation of establishment of cell polarity|small GTPase mediated signal transduction	cell-cell junction|cytoskeleton	protein binding|small GTPase regulator activity	g.chr7:91870306C>T	AJ294850	CCDS5624.1, CCDS34679.1	7q21.2	2014-09-17	2005-03-15	2005-03-17	ENSG00000001631	ENSG00000001631		"Ankyrin repeat domain containing"	1573	protein-coding gene	gene with protein product		604214	"cerebral cavernous malformations 1"	CCM1		7604043, 11342228	Standard	NM_194455		Approved	CAM	uc003ulu.1	O00522	OTTHUMG00000131187	ENST00000340022.2:c.262+1G>A	7.37:g.91870306C>T						KRIT1_ENST00000394503.2_Splice_Site|KRIT1_ENST00000412043.2_Splice_Site|KRIT1_ENST00000340022.2_Splice_Site|KRIT1_ENST00000394505.2_Splice_Site		NM_194456.1	NP_919438.1	O00522	KRIT1_HUMAN	STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)		6	1046	-	all_cancers(62;1.04e-09)|all_epithelial(64;5.75e-09)|Breast(17;0.00206)|all_lung(186;0.0509)|Lung NSC(181;0.0692)							A6NNU0|O43894|Q506L6|Q6U276|Q75N19|Q9H180|Q9H264|Q9HAX5	Splice_Site	SNP	ENST00000340022.2	37		CCDS5624.1	.	.	.	.	.	.	.	.	.	.	C	22.2	4.252336	0.80135	.	.	ENSG00000001631	ENST00000394507;ENST00000340022;ENST00000412043;ENST00000394505;ENST00000394503;ENST00000415227;ENST00000458177;ENST00000433016;ENST00000454017;ENST00000440209;ENST00000430102	.	.	.	5.81	5.81	0.92471	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.0826	0.97783	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	KRIT1	91708242	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	6.554000	0.73923	2.746000	0.94184	0.655000	0.94253	.		0.318	KRIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253910.1		Intron	28	67	0	0	0	1	0	28	67					T	91870306	C	T	91870306	5	4	100	1	0	0	0	0	0	0	1	0	8445	521	18	3	2007	3	KRIT1	7	91870306	Splice_Site	SNP	C	TCGA-EJ-7789-01A-11D-2114-08	38766155	91870306	67268357	17	5595											
MUC17	140453	broad.mit.edu	37	chr7	100679978	100679978	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tacctgtcagcaccacgccgGtactcagttctgaggctagc	8	9	10	14	2	3	1	2	1	1	0	3	1	3	1	3	2	4	4	3	2	3	4			TCGA-EJ-7789-01A-11D-2114-08	TCGA-EJ-7789-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d415be01-5bb2-4be0-9a02-9c70e461faa3	316e21f4-9c3d-41d4-aafd-5fb3c3743ba2	g.chr7:100679978G>A	ENST00000306151.4	+	3	5345	c.5281G>A	c.(5281-5283)Gta>Ata	p.V1761I		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1761	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CACCACGCCGGTACTCAGTTC	0.502																																						ENST00000306151.4																			0				NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343						c.(5281-5283)Gta>Ata		mucin 17, cell surface associated							287	300	295					7																	100679978		2203	4300	6503	SO:0001583	missense	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100679978G>A	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"Mucins"	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.5281G>A	7.37:g.100679978G>A	ENSP00000302716:p.Val1761Ile						p.V1761I	NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN			3	5345	+	Lung NSC(181;0.136)|all_lung(186;0.182)		1761			59 X approximate tandem repeats.|Ser-rich.		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	c.5281G>A	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	g	0.015	-1.567728	0.00895	.	.	ENSG00000169876	ENST00000306151	T	0.02103	4.45	0.0465	-0.093	0.13652	.	.	.	.	.	T	0.01189	0.0039	N	0.14661	0.345	0.09310	N	1	B	0.18461	0.028	B	0.11329	0.006	T	0.49370	-0.8947	8	0.13853	T	0.58	.	.	.	.	.	1761	Q685J3	MUC17_HUMAN	I	1761	ENSP00000302716:V1761I	ENSP00000302716:V1761I	V	+	1	0	MUC17	100466698	0.014000	0.17966	0.000000	0.03702	0.000000	0.00434	0.141000	0.16076	-1.446000	0.01945	-1.435000	0.01079	GTA		0.502	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		5	610	0	0	0	1	0	5	610					A	100679978	G	A	100679978	3	1	100	1	0	0	0	0	1	0	0	0	9974	1261	44	3	5291	3	MUC17	7	100679978	Missense_Mutation	SNP	G	TCGA-EJ-7789-01A-11D-2114-08	8809672	100679978	58458685	18	5596											
TSGA14	95681	broad.mit.edu	37	chr7	130042551	130042551	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catctagcagcaggaaggggCagtcaggataaggtttgtct	11	9	14	7	0	3	0	1	0	2	0	3	2	3	2	0	5	2	4	0	5	3	3			TCGA-EJ-7789-01A-11D-2114-08	TCGA-EJ-7789-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d415be01-5bb2-4be0-9a02-9c70e461faa3	316e21f4-9c3d-41d4-aafd-5fb3c3743ba2	g.chr7:130042551C>A	ENST00000223208.5	-	7	782	c.512G>T	c.(511-513)tGc>tTc	p.C171F	CEP41_ENST00000343969.5_Missense_Mutation_p.C171F|CEP41_ENST00000541543.1_Missense_Mutation_p.C155F	NM_001257158.1|NM_018718.2	NP_001244087.1|NP_061188.1	Q9BYV8	CEP41_HUMAN	centrosomal protein 41kDa	171	Rhodanese. {ECO:0000255|PROSITE- ProRule:PRU00173}.				cilium assembly (GO:0042384)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|protein polyglutamylation (GO:0018095)|protein transport (GO:0015031)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytosol (GO:0005829)|membrane (GO:0016020)|primary cilium (GO:0072372)											CAGGAAGGGGCAGTCAGGATA	0.488																																						ENST00000223208.4																			0											c.(511-513)tGc>tTc		centrosomal protein 41kDa							300	265	277					7																	130042551		2203	4300	6503	SO:0001583	missense	95681				G2/M transition of mitotic cell cycle	centrosome|cytosol		g.chr7:130042551C>A	AJ278890	CCDS5821.1, CCDS59078.1, CCDS59079.1, CCDS59080.1	7q32	2014-02-20	2011-10-04	2011-10-04	ENSG00000106477	ENSG00000106477			12370	protein-coding gene	gene with protein product		610523	"testis specific, 14"	TSGA14		14654843, 22246503	Standard	NM_018718		Approved	DKFZp762H1311, FLJ22445, JBTS15	uc003vpz.4	Q9BYV8	OTTHUMG00000157823	ENST00000223208.5:c.512G>T	7.37:g.130042551C>A	ENSP00000223208:p.Cys171Phe					CEP41_ENST00000541543.1_Missense_Mutation_p.C155F|CEP41_ENST00000343969.5_Missense_Mutation_p.C171F	p.C171F	NM_001257158.1|NM_018718.2	NP_001244087.1|NP_061188.1	Q9BYV8	CEP41_HUMAN			7	782	-			171			Rhodanese.		A4D1M0|B4DQ35|F5H0V6|Q7Z496|Q86TM1|Q8NFU8|Q9H6A3|Q9NPV3	Missense_Mutation	SNP	ENST00000223208.5	37	c.512G>T	CCDS5821.1	.	.	.	.	.	.	.	.	.	.	C	26.0	4.691495	0.88735	.	.	ENSG00000106477	ENST00000223208;ENST00000541543;ENST00000343969;ENST00000492389;ENST00000472739;ENST00000477003;ENST00000475282	D;D;D;T;D;D;D	0.89485	-2.52;-2.18;-2.49;1.8;-2.16;-2.19;-2.3	5.83	5.83	0.93111	Rhodanese-like (3);	0.000000	0.85682	D	0.000000	D	0.88492	0.6451	L	0.34521	1.04	0.80722	D	1	D;P;P	0.57899	0.981;0.539;0.767	P;B;B	0.50049	0.629;0.19;0.288	D	0.89522	0.3779	10	0.72032	D	0.01	-17.3092	18.7012	0.91620	0.0:1.0:0.0:0.0	.	155;171;171	F5H0V6;Q9BYV8-2;Q9BYV8	.;.;CEP41_HUMAN	F	171;155;171;136;136;168;136	ENSP00000223208:C171F;ENSP00000445888:C155F;ENSP00000342738:C171F;ENSP00000419192:C136F;ENSP00000417593:C136F;ENSP00000420670:C168F;ENSP00000418363:C136F	ENSP00000223208:C171F	C	-	2	0	TSGA14	129829787	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.698000	0.84413	2.763000	0.94921	0.563000	0.77884	TGC		0.488	CEP41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349702.2	NM_018718		4	247	1	0	0.00024832	1	0.000284533	4	247					A	130042551	C	A	130042551	3	1	100	1	0	0	0	0	1	0	0	0	16617	710	25	5	629	5	TSGA14	7	130042551	Missense_Mutation	SNP	C	TCGA-EJ-7789-01A-11D-2114-08	29362573	130042551	29096112	19	5597											
TAS2R38	5726	broad.mit.edu	37	chr7	141672537	141672537	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtcggctcttaccttcaggCtgctctgagcccagagcaga	7	9	12	13	1	3	3	1	1	2	2	4	3	3	3	2	3	4	4	2	3	1	2			TCGA-EJ-7789-01A-11D-2114-08	TCGA-EJ-7789-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d415be01-5bb2-4be0-9a02-9c70e461faa3	316e21f4-9c3d-41d4-aafd-5fb3c3743ba2	g.chr7:141672537C>G	ENST00000547270.1	-	1	1036	c.953G>C	c.(952-954)aGc>aCc	p.S318T		NM_176817.4	NP_789787	P59533	T2R38_HUMAN	taste receptor, type 2, member 38	318					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)			NS(2)|breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|skin(1)|stomach(1)	21	Melanoma(164;0.0171)					TACCTTCAGGCTGCTCTGAGC	0.507																																						ENST00000547270.1																			0				NS(2)|breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|skin(1)|stomach(1)	21						c.(952-954)aGc>aCc		taste receptor, type 2, member 38							68	60	63					7																	141672537		2203	4300	6503	SO:0001583	missense	5726				sensory perception of taste	integral to membrane	G-protein coupled receptor activity	g.chr7:141672537C>G	AF494231	CCDS34765.1	7q34	2012-10-03	2003-05-29	2003-05-30	ENSG00000257138	ENSG00000257138		"Taste receptors / Type 2", "GPCR / Unclassified : Taste receptors"	9584	protein-coding gene	gene with protein product		607751	"phenylthiocarbamide tasting"	PTC		12624758, 12584440	Standard	NM_176817		Approved	T2R61	uc003vwx.1	P59533	OTTHUMG00000158374	ENST00000547270.1:c.953G>C	7.37:g.141672537C>G	ENSP00000448219:p.Ser318Thr						p.S318T	NM_176817.4	NP_789787.4	P59533	T2R38_HUMAN			1	1036	-	Melanoma(164;0.0171)		318					A4D1U6|P59552|Q2M3E8|Q645W3|Q86UK3	Missense_Mutation	SNP	ENST00000547270.1	37	c.953G>C	CCDS34765.1	.	.	.	.	.	.	.	.	.	.	C	7.885	0.731081	0.15507	.	.	ENSG00000257138	ENST00000547270	T	0.38077	1.16	5.31	-0.251	0.13003	.	1.137340	0.06500	N	0.736125	T	0.30759	0.0775	M	0.68593	2.085	0.09310	N	1	B	0.29432	0.244	B	0.19391	0.025	T	0.22556	-1.0213	10	0.22706	T	0.39	.	4.8871	0.13708	0.4435:0.3873:0.0:0.1692	.	318	P59533	T2R38_HUMAN	T	318	ENSP00000448219:S318T	ENSP00000331291:S318T	S	-	2	0	TAS2R38	141319006	0.000000	0.05858	0.000000	0.03702	0.097000	0.18754	-0.376000	0.07465	0.020000	0.15106	-0.274000	0.10170	AGC		0.507	TAS2R38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350810.2	NM_176817		8	86	0	0	0	1	0	8	86					G	141672537	C	G	141672537	3	3	100	1	0	0	0	0	1	0	0	0	15572	797	28	5	52	5	TAS2R38	7	141672537	Missense_Mutation	SNP	C	TCGA-EJ-7789-01A-11D-2114-08	11629986	141672537	17466126	20	5598											
LRRC67	286187	broad.mit.edu	37	chr8	67922953	67922953	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atttctctttacactaccttCacatgcagaagttggttgtc	9	16	6	10	0	2	1	1	0	1	1	4	1	2	1	1	1	3	3	1	1	3	7			TCGA-EJ-7789-01A-11D-2114-08	TCGA-EJ-7789-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d415be01-5bb2-4be0-9a02-9c70e461faa3	316e21f4-9c3d-41d4-aafd-5fb3c3743ba2	g.chr8:67922953C>G	ENST00000324682.5	-	5	693	c.549G>C	c.(547-549)gtG>gtC	p.V183V	PPP1R42_ENST00000522909.1_Silent_p.V183V|PPP1R42_ENST00000517834.1_5'Flank	NM_001013626.2	NP_001013648.1	Q7Z4L9	PPR42_HUMAN	protein phosphatase 1, regulatory subunit 42	183					regulation of phosphatase activity (GO:0010921)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|manchette (GO:0002177)|microtubule cytoskeleton (GO:0015630)|microtubule organizing center (GO:0005815)	actin binding (GO:0003779)|dynein binding (GO:0045502)|tubulin binding (GO:0015631)										ACACTACCTTCACATGCAGAA	0.254																																						ENST00000522909.1																			0											c.(547-549)gtG>gtC		protein phosphatase 1, regulatory subunit 42							64	63	63					8																	67922953		2203	4296	6499	SO:0001819	synonymous_variant	286187							g.chr8:67922953C>G	BC055413	CCDS34902.1	8q13.1-q13.2	2012-04-17	2011-10-11	2011-10-11	ENSG00000178125	ENSG00000178125		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	33732	protein-coding gene	gene with protein product	"testis leucine-rich repeat"		"leucine rich repeat containing 67"	LRRC67			Standard	NM_001013626		Approved	dtr, TLLR	uc003xxc.3	Q7Z4L9	OTTHUMG00000164745	ENST00000324682.5:c.549G>C	8.37:g.67922953C>G						PPP1R42_ENST00000324682.5_Silent_p.V183V	p.V183V			Q7Z4L9	LRC67_HUMAN			5	733	-			183						Silent	SNP	ENST00000324682.5	37	c.549G>C	CCDS34902.1																																																																																				0.254	PPP1R42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380034.2	NM_001013626		11	69	0	0	0	1	0	11	69					G	67922953	C	G	67922953	2	3	100	1	0	0	0	0	0	0	0	1	9019	813	29	5		5	LRRC67	8	67922953	Silent	SNP	C	TCGA-EJ-7789-01A-11D-2114-08		67922953	78441069	21	5599											
EPPK1	83481	broad.mit.edu	37	chr8	144945742	144945743	+	In_Frame_Ins	INS	-	-	AAGGTGACCCTG																															cggtgtccctcagcccagaaINSaaggtgaccctggcagtggc																								rs528701859|rs199724348	byFrequency	TCGA-EJ-7789-01A-11D-2114-08	TCGA-EJ-7789-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d415be01-5bb2-4be0-9a02-9c70e461faa3	6ec93e5e-92dc-4e51-95f2-a74eee00cf98	g.chr8:144945742_144945743insAAGGTGACCCTG	ENST00000525985.1	-	2	1750_1751	c.1679_1680insCAGGGTCACCTT	c.(1678-1680)ttt>ttCAGGGTCACCTTt	p.560_560F>FRVTF				P58107	EPIPL_HUMAN	epiplakin 1	560						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			TCAGCCCAGAAAAGGTGACCCT	0.639														72	0.014377	0.0522	0.0043	5008	,	,		19876	0		0	False		,,,				2504	0					ENST00000525985.1																			0				NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						c.(1678-1680)ttc>tCAGGGTCACCTTtc		epiplakin 1				164,3932		7,150,1891						-5.4	0			28	2,8124		0,2,4061	no	coding	EPPK1	NM_031308.1		7,152,5952	A1A1,A1R,RR		0.0246,4.0039,1.3582				166,12056				SO:0001652	inframe_insertion	83481					cytoplasm|cytoskeleton	protein binding|structural molecule activity	g.chr8:144945742_144945743insAAGGTGACCCTG	AB051895	CCDS75800.1	8q24.3	2014-09-17				ENSG00000261150			15577	protein-coding gene	gene with protein product	"epidermal autoantigen 450K"	607553				11278896, 15671067	Standard	NM_031308		Approved	EPIPL1	uc003zaa.1	P58107		ENST00000525985.1:c.1668_1679dupCAGGGTCACCTT	8.37:g.144945742_144945743insAAGGTGACCCTG	ENSP00000436337:p.ArgValThrPhe560dup						p.559_560insSGSP			P58107	EPIPL_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		2	1750_1751	-	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		559					Q76E58|Q9NSU9	In_Frame_Ins	INS	ENST00000525985.1	37	c.1679_1680insCAGGGTCACCTT																																																																																					0.639	EPPK1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000382675.1	NM_031308		9	20						9	20	---	---	---	---	AAGGTGACCCTG	144945743	-	AAGGTGACCCTG	144945742	7	5	100	1	0	1	1	0	0	0	0	0	5190	11	1	0	5586	0	EPPK1	8	144945742	In_Frame_Ins	INS	-	TCGA-EJ-7789-01A-11D-2114-08	77022789	144945742	1418280	22	5600											
KIF24	347240	broad.mit.edu	37	chr9	34255095	34255095	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagccagctggctcatcagcGtctcctccttgaagccgagc	8	8	10	15	2	3	1	2	1	1	0	5	2	4	1	4	1	5	2	4	1	2	1	rs371161721		TCGA-EJ-7789-01A-11D-2114-08	TCGA-EJ-7789-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d415be01-5bb2-4be0-9a02-9c70e461faa3	316e21f4-9c3d-41d4-aafd-5fb3c3743ba2	g.chr9:34255095G>A	ENST00000402558.2	-	11	3965	c.3941C>T	c.(3940-3942)aCg>aTg	p.T1314M	KIF24_ENST00000345050.2_Missense_Mutation_p.T1180M|KIF24_ENST00000379174.3_Missense_Mutation_p.T1180M|KIF24_ENST00000379166.2_Missense_Mutation_p.T1314M			Q5T7B8	KIF24_HUMAN	kinesin family member 24	1314					ATP catabolic process (GO:0006200)|cilium assembly (GO:0042384)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)	centriole (GO:0005814)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|protein complex (GO:0043234)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|liver(1)|lung(13)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	32			LUSC - Lung squamous cell carcinoma(29;0.0107)			GCTCATCAGCGTCTCCTCCTT	0.527																																						ENST00000379166.2																			0				breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|liver(1)|lung(13)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	32						c.(3940-3942)aCg>aTg		kinesin family member 24							64	50	55					9																	34255095		2203	4298	6501	SO:0001583	missense	347240				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr9:34255095G>A	AK001795	CCDS6551.2	9p13.3	2013-01-10			ENSG00000186638	ENSG00000186638		"Kinesins", "Sterile alpha motif (SAM) domain containing"	19916	protein-coding gene	gene with protein product		613747	"chromosome 9 open reading frame 48"	C9orf48		12477932	Standard	NM_194313		Approved	bA571F15.4, FLJ10933, FLJ43884	uc003zua.4	Q5T7B8	OTTHUMG00000019810	ENST00000402558.2:c.3941C>T	9.37:g.34255095G>A	ENSP00000384433:p.Thr1314Met					KIF24_ENST00000402558.2_Missense_Mutation_p.T1314M|KIF24_ENST00000379174.3_Missense_Mutation_p.T1180M|KIF24_ENST00000345050.2_Missense_Mutation_p.T1180M	p.T1314M	NM_194313.2	NP_919289.2	Q5T7B8	KIF24_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0107)		12	4060	-			1314					Q2TB93|Q5T7B5|Q5T7B7|Q6ZU97|Q6ZUZ2|Q86XZ0|Q9NV43	Missense_Mutation	SNP	ENST00000402558.2	37	c.3941C>T	CCDS6551.2	.	.	.	.	.	.	.	.	.	.	G	15.02	2.710317	0.48517	.	.	ENSG00000186638	ENST00000402558;ENST00000379174;ENST00000379166;ENST00000345050	T;T;T;T	0.72394	-0.43;-0.65;-0.43;-0.65	5.55	2.62	0.31277	.	0.304002	0.24027	N	0.042226	T	0.61362	0.2341	M	0.62723	1.935	0.20074	N	0.999938	P	0.52316	0.952	B	0.42030	0.373	T	0.59984	-0.7351	10	0.66056	D	0.02	.	2.9281	0.05791	0.1685:0.3987:0.3118:0.121	.	1314	Q5T7B8	KIF24_HUMAN	M	1314;1180;1314;1180	ENSP00000384433:T1314M;ENSP00000368472:T1180M;ENSP00000368464:T1314M;ENSP00000340179:T1180M	ENSP00000340179:T1180M	T	-	2	0	KIF24	34245095	0.505000	0.26131	0.971000	0.41717	0.615000	0.37417	0.794000	0.26958	0.714000	0.32081	0.655000	0.94253	ACG		0.527	KIF24-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052150.5			3	15	0	0	0	1	0	3	15					A	34255095	G	A	34255095	3	1	100	1	0	0	0	0	1	0	0	0	8292	1145	40	1	173	1	KIF24	9	34255095	Missense_Mutation	SNP	G	TCGA-EJ-7789-01A-11D-2114-08		34255095	106958336	23	5601											
CERCAM	51148	broad.mit.edu	37	chr9	131193524	131193524	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccaggacccttactcgggccGcactctgaccaagggcgagg	8	5	13	15	3	1	1	0	1	1	0	2	3	1	2	4	4	1	1	4	4	2	1			TCGA-EJ-7789-01A-11D-2114-08	TCGA-EJ-7789-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d415be01-5bb2-4be0-9a02-9c70e461faa3	316e21f4-9c3d-41d4-aafd-5fb3c3743ba2	g.chr9:131193524G>A	ENST00000372838.4	+	9	1543	c.1145G>A	c.(1144-1146)cGc>cAc	p.R382H	RP11-339B21.10_ENST00000610052.1_RNA|CERCAM_ENST00000372842.1_Missense_Mutation_p.R304H	NM_016174.4	NP_057258.3	Q5T4B2	GT253_HUMAN	cerebral endothelial cell adhesion molecule	382					cell adhesion (GO:0007155)|cellular component movement (GO:0006928)|leukocyte cell-cell adhesion (GO:0007159)|lipopolysaccharide biosynthetic process (GO:0009103)	endoplasmic reticulum (GO:0005783)|plasma membrane (GO:0005886)				endometrium(2)|kidney(4)|large_intestine(2)|lung(9)|ovary(1)|pancreas(2)	20						TACTCGGGCCGCACTCTGACC	0.627																																						ENST00000372842.1																			0				endometrium(2)|kidney(4)|large_intestine(2)|lung(9)|ovary(1)|pancreas(2)	20						c.(910-912)cGc>cAc		cerebral endothelial cell adhesion molecule							85	85	85					9																	131193524		2203	4300	6503	SO:0001583	missense	51148				cellular component movement|leukocyte cell-cell adhesion|lipopolysaccharide biosynthetic process	endoplasmic reticulum lumen|plasma membrane		g.chr9:131193524G>A	AB040935	CCDS6901.2, CCDS69675.1	9q34.13	2008-02-05	2007-10-17	2007-10-17	ENSG00000167123	ENSG00000167123			23723	protein-coding gene	gene with protein product	"glycosyltransferase 25 domain containing 3"		"cerebral cell adhesion molecule"	CEECAM1		10608765	Standard	NM_016174		Approved	GLT25D3, CerCAM	uc004buz.4	Q5T4B2	OTTHUMG00000020747	ENST00000372838.4:c.1145G>A	9.37:g.131193524G>A	ENSP00000361929:p.Arg382His					CERCAM_ENST00000372838.4_Missense_Mutation_p.R382H	p.R304H			Q5T4B2	GT253_HUMAN			10	4055	+			382					A7MD00|C4AMA2|Q0VDF3|Q2VPJ4|Q4KMP2|Q5T4B1|Q8N107|Q96EZ5|Q9P226|Q9UMW5	Missense_Mutation	SNP	ENST00000372838.4	37	c.911G>A	CCDS6901.2	.	.	.	.	.	.	.	.	.	.	G	19.24	3.789219	0.70337	.	.	ENSG00000167123	ENST00000372842;ENST00000372838;ENST00000413863	T;T	0.80653	-1.37;-1.4	5.02	4.1	0.47936	.	0.055960	0.64402	N	0.000001	D	0.86293	0.5898	M	0.74546	2.27	0.80722	D	1	D	0.59767	0.986	P	0.57679	0.825	D	0.87600	0.2496	10	0.72032	D	0.01	-20.9121	12.8845	0.58036	0.0818:0.0:0.9182:0.0	.	382	Q5T4B2	GT253_HUMAN	H	304;382;335	ENSP00000361933:R304H;ENSP00000361929:R382H	ENSP00000361929:R382H	R	+	2	0	CERCAM	130233345	1.000000	0.71417	1.000000	0.80357	0.715000	0.41141	7.668000	0.83897	1.197000	0.43143	0.491000	0.48974	CGC		0.627	CERCAM-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054435.2	NM_016174		4	150	0	0	0	1	0	4	150					A	131193524	G	A	131193524	3	1	100	1	0	0	0	0	1	0	0	0	3266	1087	38	1	1179	1	CERCAM	9	131193524	Missense_Mutation	SNP	G	TCGA-EJ-7789-01A-11D-2114-08	96938429	131193524	10019907	24	5602											
EXD3	54932	broad.mit.edu	37	chr9	140267454	140267454	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agatgctggccagtggtgccGcaaggctgggggggctctca	6	7	18	10	1	1	1	1	0	1	1	2	1	1	1	2	6	2	4	2	6	1	0	rs368323331		TCGA-EJ-7789-01A-11D-2114-08	TCGA-EJ-7789-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d415be01-5bb2-4be0-9a02-9c70e461faa3	316e21f4-9c3d-41d4-aafd-5fb3c3743ba2	g.chr9:140267454G>A	ENST00000340951.4	-	5	560	c.365C>T	c.(364-366)gCg>gTg	p.A122V	EXD3_ENST00000475006.1_5'UTR|EXD3_ENST00000342129.4_5'UTR|EXD3_ENST00000479452.1_Missense_Mutation_p.A122V	NM_017820.3	NP_060290.3	Q9NX53	MUT7B_HUMAN	exonuclease 3'-5' domain containing 3	0	Pro-rich.									NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(2)	12						CAGTGGTGCCGCAAGGCTGGG	0.637																																						ENST00000340951.4																			0				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(2)	12						c.(364-366)gCg>gTg		exonuclease 3'-5' domain containing 3		A	VAL/ALA	2,4172		0,2,2085	42	52	48		365	-6.4	0	9		48	0,8430		0,0,4215	no	missense	EXD3	NM_017820.3	64	0,2,6300	AA,AG,GG		0.0,0.0479,0.0159	benign	122/877	140267454	2,12602	2087	4215	6302	SO:0001583	missense	54932				nucleobase, nucleoside, nucleotide and nucleic acid metabolic process	intracellular	3'-5' exonuclease activity|nucleic acid binding	g.chr9:140267454G>A		CCDS48066.1, CCDS75942.1	9q34.3	2009-03-04			ENSG00000187609	ENSG00000187609			26023	protein-coding gene	gene with protein product							Standard	XM_005266093		Approved	LOC54932, FLJ20433, mut-7	uc004cmp.2	Q8N9H8	OTTHUMG00000156149	ENST00000340951.4:c.365C>T	9.37:g.140267454G>A	ENSP00000340474:p.Ala122Val					EXD3_ENST00000479452.1_Missense_Mutation_p.A122V|EXD3_ENST00000475006.1_5'UTR|EXD3_ENST00000342129.4_5'UTR	p.A122V	NM_017820.3	NP_060290.3	Q8N9H8	MUT7_HUMAN			5	560	-			122					Q6P1M1|Q8IXT8	Missense_Mutation	SNP	ENST00000340951.4	37	c.365C>T	CCDS48066.1	.	.	.	.	.	.	.	.	.	.	A	0.968	-0.701097	0.03255	4.79E-4	0.0	ENSG00000187609	ENST00000340951;ENST00000479452	T;T	0.48201	0.82;1.67	4.29	-6.41	0.01938	.	0.787215	0.11689	N	0.539057	T	0.18964	0.0455	N	0.02736	-0.51	0.09310	N	0.999997	B;B	0.06786	0.0;0.001	B;B	0.04013	0.0;0.001	T	0.28106	-1.0054	10	0.17832	T	0.49	.	12.9098	0.58173	0.4356:0.0:0.5644:0.0	.	122;122	Q8N9H8-4;Q8N9H8	.;MUT7_HUMAN	V	122	ENSP00000340474:A122V;ENSP00000431859:A122V	ENSP00000340474:A122V	A	-	2	0	EXD3	139387275	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.264000	0.18497	-2.313000	0.00648	-3.502000	0.00033	GCG		0.637	EXD3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000343182.1	NM_017820		5	129	0	0	0	1	0	5	129					A	140267454	G	A	140267454	3	1	100	1	0	0	0	0	1	0	0	0	5299	1087	38	1	2337	1	EXD3	9	140267454	Missense_Mutation	SNP	G	TCGA-EJ-7789-01A-11D-2114-08	9073930	140267454	945977	25	5603											
PYROXD2	84795	broad.mit.edu	37	chr10	100150769	100150769	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atgtggtgtgcctcttaccaTtgatcttggtgacaggcgac	7	13	12	9	1	2	2	0	2	2	0	2	3	2	2	2	3	2	0	2	3	1	3	rs372754247		TCGA-EJ-7789-01A-11D-2114-08	TCGA-EJ-7789-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d415be01-5bb2-4be0-9a02-9c70e461faa3	316e21f4-9c3d-41d4-aafd-5fb3c3743ba2	g.chr10:100150769T>C	ENST00000370575.4	-	11	1181	c.1133A>G	c.(1132-1134)aAt>aGt	p.N378S	PYROXD2_ENST00000483923.1_5'UTR	NM_032709.2	NP_116098.2	Q8N2H3	PYRD2_HUMAN	pyridine nucleotide-disulphide oxidoreductase domain 2	378							oxidoreductase activity (GO:0016491)			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	12						CCTCTTACCATTGATCTTGGT	0.547																																						ENST00000370575.4																			0				central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	12						c.(1132-1134)aAt>aGt		pyridine nucleotide-disulphide oxidoreductase domain 2		T	SER/ASN	1,4405	2.1+/-5.4	0,1,2202	147	139	142		1133	5.1	1	10		142	0,8600		0,0,4300	no	missense	PYROXD2	NM_032709.2	46	0,1,6502	CC,CT,TT		0.0,0.0227,0.0077	probably-damaging	378/582	100150769	1,13005	2203	4300	6503	SO:0001583	missense	84795						oxidoreductase activity	g.chr10:100150769T>C	AK074429	CCDS7474.1	10q24.2	2009-04-22	2009-04-22	2009-04-22	ENSG00000119943	ENSG00000119943			23517	protein-coding gene	gene with protein product			"chromosome 10 open reading frame 33"	C10orf33			Standard	NM_032709		Approved	FLJ23849	uc001kpc.3	Q8N2H3	OTTHUMG00000018877	ENST00000370575.4:c.1133A>G	10.37:g.100150769T>C	ENSP00000359607:p.Asn378Ser					PYROXD2_ENST00000483923.1_5'UTR	p.N378S	NM_032709.2	NP_116098.2	Q8N2H3	PYRD2_HUMAN			11	1181	-			378					D3DR61|Q5TAA9|Q9BRQ1	Missense_Mutation	SNP	ENST00000370575.4	37	c.1133A>G	CCDS7474.1	.	.	.	.	.	.	.	.	.	.	T	21.6	4.168395	0.78339	2.27E-4	0.0	ENSG00000119943	ENST00000370575	T	0.23950	1.88	5.14	5.14	0.70334	.	0.000000	0.85682	D	0.000000	T	0.47432	0.1445	H	0.94183	3.505	0.80722	D	1	P	0.42375	0.778	P	0.44732	0.459	T	0.61686	-0.7012	10	0.72032	D	0.01	-26.6683	12.4767	0.55819	0.0:0.0:0.0:1.0	.	378	Q8N2H3	PYRD2_HUMAN	S	378	ENSP00000359607:N378S	ENSP00000359607:N378S	N	-	2	0	PYROXD2	100140759	1.000000	0.71417	0.986000	0.45419	0.889000	0.51656	6.520000	0.73773	1.942000	0.56320	0.460000	0.39030	AAT		0.547	PYROXD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049782.2	NM_032709		10	166	0	0	0	1	0	10	166					C	100150769	T	C	100150769	3	2	100	1	0	0	0	0	1	0	0	0	12867	1493	52	4	636	4	PYROXD2	10	100150769	Missense_Mutation	SNP	T	TCGA-EJ-7789-01A-11D-2114-08		100150769	35383978	26	5604											
NAV2	89797	broad.mit.edu	37	chr11	19735327	19735327	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcccatcctgcacgtgccccCggcccgggcgggcccccagc	3	3	13	22	4	0	0	0	0	0	0	1	0	1	0	7	3	3	1	7	3	0	0	rs374708050		TCGA-EJ-7789-01A-11D-2114-08	TCGA-EJ-7789-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d415be01-5bb2-4be0-9a02-9c70e461faa3	316e21f4-9c3d-41d4-aafd-5fb3c3743ba2	g.chr11:19735327C>A	ENST00000396087.3	+	1	185	c.86C>A	c.(85-87)cCg>cAg	p.P29Q	NAV2_ENST00000360655.4_Intron|RP11-359E10.1_ENST00000603468.1_lincRNA|NAV2_ENST00000349880.4_Missense_Mutation_p.P29Q|NAV2_ENST00000396085.1_Missense_Mutation_p.P29Q	NM_001244963.1	NP_001231892.1	Q8IVL1	NAV2_HUMAN	neuron navigator 2	29					glossopharyngeal nerve development (GO:0021563)|locomotory behavior (GO:0007626)|optic nerve development (GO:0021554)|regulation of systemic arterial blood pressure by baroreceptor feedback (GO:0003025)|sensory perception of smell (GO:0007608)|sensory perception of sound (GO:0007605)|vagus nerve development (GO:0021564)	interstitial matrix (GO:0005614)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|heparin binding (GO:0008201)			NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						CACGTgcccccggcccgggcg	0.657																																						ENST00000396085.1																			0				NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						c.(85-87)cCg>cAg		neuron navigator 2							19	21	20					11																	19735327		2195	4287	6482	SO:0001583	missense	89797					nucleus	ATP binding|helicase activity	g.chr11:19735327C>A	AB037840	CCDS7850.1, CCDS7851.2, CCDS44552.1, CCDS53612.1, CCDS58126.1	11p15.1	2008-07-18			ENSG00000166833	ENSG00000166833	3.6.1.1		15997	protein-coding gene	gene with protein product	"pore membrane and/or filament interacting like protein 2", "retinoic acid inducible gene in neuroblastoma 1", "helicase, APC down-regulated 1"	607026				12079279, 12062803	Standard	NM_145117		Approved	FLJ10633, FLJ11030, HELAD1, KIAA1419, POMFIL2, RAINB1, FLJ23707	uc010rdm.2	Q8IVL1	OTTHUMG00000151837	ENST00000396087.3:c.86C>A	11.37:g.19735327C>A	ENSP00000379396:p.Pro29Gln					NAV2_ENST00000396087.3_Missense_Mutation_p.P29Q|NAV2_ENST00000360655.4_Intron|NAV2_ENST00000349880.4_Missense_Mutation_p.P29Q	p.P29Q	NM_182964.5	NP_892009.3	Q8IVL1	NAV2_HUMAN			1	447	+			29					A6NEC1|Q8IVK3|Q8IVK4|Q8IVK5|Q8IVK6|Q8IVK7|Q8IVK8|Q8NHC9|Q8NHD0|Q8TDE9|Q8TDF0|Q8TEB3|Q96B30|Q9NUZ6|Q9NVM7|Q9P2C8	Missense_Mutation	SNP	ENST00000396087.3	37	c.86C>A	CCDS58126.1	.	.	.	.	.	.	.	.	.	.	C	16.62	3.172636	0.57584	.	.	ENSG00000166833	ENST00000396085;ENST00000349880;ENST00000396087	T;T;T	0.59502	0.26;0.26;0.26	5.37	4.36	0.52297	.	0.466193	0.19644	N	0.109391	T	0.36138	0.0956	N	0.08118	0	0.80722	D	1	B	0.30542	0.284	B	0.32762	0.152	T	0.19943	-1.0290	9	.	.	.	.	12.3205	0.54981	0.0:0.884:0.0:0.116	.	29	Q8IVL1-3	.	Q	29	ENSP00000379394:P29Q;ENSP00000309577:P29Q;ENSP00000379396:P29Q	.	P	+	2	0	NAV2	19691903	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.805000	0.47939	2.520000	0.84964	0.561000	0.74099	CCG		0.657	NAV2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324112.1	NM_145117		9	16	1	0	0.000274275	1	0.00030786	9	16					A	19735327	C	A	19735327	3	1	100	1	0	0	0	0	1	0	0	0	10184	652	23	5	167	5	NAV2	11	19735327	Missense_Mutation	SNP	C	TCGA-EJ-7789-01A-11D-2114-08		19735327	115271189	27	5605											
FNBP4	23360	broad.mit.edu	37	chr11	47758292	47758292	+	Splice_Site	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgaattttcagcaccaattGctgtaaaaaaaacatgtaaa	18	11	5	7	0	1	1	1	1	0	0	1	1	1	1	1	0	3	4	1	0	8	5			TCGA-EJ-7789-01A-11D-2114-08	TCGA-EJ-7789-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d415be01-5bb2-4be0-9a02-9c70e461faa3	316e21f4-9c3d-41d4-aafd-5fb3c3743ba2	g.chr11:47758292G>C	ENST00000263773.5	-	9	1469	c.1457C>G	c.(1456-1458)gCa>gGa	p.A486G	FNBP4_ENST00000534003.1_5'UTR	NM_015308.2	NP_056123.2	Q8N3X1	FNBP4_HUMAN	formin binding protein 4	486						nucleus (GO:0005634)				NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	44						AGCACCAATTGCTGTAAAAAA	0.303																																						ENST00000263773.5																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	44						c.e9-1		formin binding protein 4							82	69	73					11																	47758292		1788	4059	5847	SO:0001630	splice_region_variant	23360							g.chr11:47758292G>C	BC037404	CCDS41644.1	11q12.1	2008-02-05			ENSG00000109920	ENSG00000109920			19752	protein-coding gene	gene with protein product		615265				10231032	Standard	NM_015308		Approved	KIAA1014	uc009ylv.3	Q8N3X1	OTTHUMG00000166533	ENST00000263773.5:c.1457-1C>G	11.37:g.47758292G>C						FNBP4_ENST00000534003.1_5'UTR	p.A486_splice	NM_015308.2	NP_056123.2	Q8N3X1	FNBP4_HUMAN			9	1469	-			486					Q9H985|Q9NT81|Q9Y2L7	Splice_Site	SNP	ENST00000263773.5	37	c.1456_splice	CCDS41644.1	.	.	.	.	.	.	.	.	.	.	G	13.92	2.381727	0.42207	.	.	ENSG00000109920	ENST00000263773	T	0.32988	1.43	5.66	0.347	0.16022	.	0.353248	0.30999	N	0.008457	T	0.16342	0.0393	N	0.20986	0.625	0.19575	N	0.999968	B	0.12630	0.006	B	0.08055	0.003	T	0.12553	-1.0543	10	0.49607	T	0.09	.	5.2307	0.15420	0.3224:0.1371:0.5405:0.0	.	486	Q8N3X1	FNBP4_HUMAN	G	486	ENSP00000263773:A486G	ENSP00000263773:A486G	A	-	2	0	FNBP4	47714868	0.184000	0.23200	0.006000	0.13384	0.650000	0.38633	0.329000	0.19698	-0.105000	0.12132	-0.143000	0.13931	GCA		0.303	FNBP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390237.3		Missense_Mutation	3	0	0	0	0	1	0	3	0					C	47758292	G	C	47758292	5	2	100	1	0	0	0	0	0	0	1	0	5967	1333	46	5	1632	5	FNBP4	11	47758292	Splice_Site	SNP	G	TCGA-EJ-7789-01A-11D-2114-08	28022965	47758292	87248224	28	5606											
SSH3	54961	broad.mit.edu	37	chr11	67079329	67079329	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tggtgagacaggccagcgtgCatgacagtggagaggagggc	10	5	19	7	1	0	3	0	2	0	2	0	6	0	4	1	5	2	1	1	5	0	0			TCGA-EJ-7789-01A-11D-2114-08	TCGA-EJ-7789-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d415be01-5bb2-4be0-9a02-9c70e461faa3	316e21f4-9c3d-41d4-aafd-5fb3c3743ba2	g.chr11:67079329C>T	ENST00000308127.4	+	14	2129	c.1951C>T	c.(1951-1953)Cat>Tat	p.H651Y	SSH3_ENST00000308298.7_Missense_Mutation_p.H386Y|SSH3_ENST00000376757.5_3'UTR	NM_017857.3	NP_060327.3	Q8TE77	SSH3_HUMAN	slingshot protein phosphatase 3	651					protein dephosphorylation (GO:0006470)|regulation of actin polymerization or depolymerization (GO:0008064)|regulation of axonogenesis (GO:0050770)|regulation of lamellipodium assembly (GO:0010591)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	actin binding (GO:0003779)|DNA binding (GO:0003677)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)			GGCCAGCGTGCATGACAGTGG	0.637																																						ENST00000308127.4																			0				NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(1951-1953)Cat>Tat		slingshot protein phosphatase 3							67	54	59					11																	67079329		2200	4295	6495	SO:0001583	missense	54961				regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly	cytoplasm|cytoskeleton|nucleus	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr11:67079329C>T	AF085851	CCDS8157.1	11q13	2013-03-05	2013-03-05		ENSG00000172830	ENSG00000172830		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Slingshots"	30581	protein-coding gene	gene with protein product		606780	"slingshot homolog 3 (Drosophila)"			11832213	Standard	NM_017857		Approved	FLJ20515, FLJ10928	uc001okj.3	Q8TE77	OTTHUMG00000167105	ENST00000308127.4:c.1951C>T	11.37:g.67079329C>T	ENSP00000312081:p.His651Tyr					SSH3_ENST00000376757.5_3'UTR|SSH3_ENST00000308298.7_Missense_Mutation_p.H386Y	p.H651Y	NM_017857.3	NP_060327.3	Q8TE77	SSH3_HUMAN	BRCA - Breast invasive adenocarcinoma(15;2.26e-06)		14	2129	+			651					Q6PK42|Q76I75|Q8N9L8|Q8WYL0|Q9NV45|Q9NWZ7	Missense_Mutation	SNP	ENST00000308127.4	37	c.1951C>T	CCDS8157.1	.	.	.	.	.	.	.	.	.	.	C	10.50	1.367969	0.24771	.	.	ENSG00000172830	ENST00000308127;ENST00000308298	T;T	0.30981	3.86;1.51	4.72	3.81	0.43845	.	1.194440	0.06298	N	0.700381	T	0.18923	0.0454	N	0.08118	0	0.80722	D	1	B;B	0.30686	0.29;0.011	B;B	0.21708	0.036;0.012	T	0.02244	-1.1189	10	0.72032	D	0.01	-6.3164	11.2717	0.49142	0.0:0.1876:0.8124:0.0	.	505;651	Q8TE77-3;Q8TE77	.;SSH3_HUMAN	Y	651;386	ENSP00000312081:H651Y;ENSP00000310055:H386Y	ENSP00000312081:H651Y	H	+	1	0	SSH3	66835905	1.000000	0.71417	0.967000	0.41034	0.197000	0.23852	2.847000	0.48270	1.136000	0.42199	-0.234000	0.12200	CAT		0.637	SSH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393167.1	NM_018276		37	47	0	0	0	1	0	37	47					T	67079329	C	T	67079329	3	4	100	1	0	0	0	0	1	0	0	0	15185	710	25	3	2005	3	SSH3	11	67079329	Missense_Mutation	SNP	C	TCGA-EJ-7789-01A-11D-2114-08	19321037	67079329	67927187	29	5607											
ZNF828	283489	broad.mit.edu	37	chr13	115090966	115090966	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agaagcacgcaaacgtgcccTttttccagagccccggaagc	11	6	10	14	3	0	2	0	0	0	2	1	3	1	3	4	1	5	2	4	1	3	2			TCGA-EJ-7789-01A-11D-2114-08	TCGA-EJ-7789-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d415be01-5bb2-4be0-9a02-9c70e461faa3	316e21f4-9c3d-41d4-aafd-5fb3c3743ba2	g.chr13:115090966T>C	ENST00000361283.1	+	3	1958	c.1649T>C	c.(1648-1650)cTt>cCt	p.L550P		NM_001164144.1|NM_001164145.1|NM_032436.2	NP_001157616.1|NP_001157617.1|NP_115812.1	Q96JM3	CHAP1_HUMAN	chromosome alignment maintaining phosphoprotein 1	550	Mediates localization to the spindle and the kinetochore and is required for the attachment of spindle microtubules to the kinetochore.|Pro-rich.				attachment of spindle microtubules to kinetochore involved in mitotic sister chromatid segregation (GO:0051315)|protein localization to kinetochore (GO:0034501)|protein localization to microtubule (GO:0035372)|sister chromatid biorientation (GO:0031134)	condensed chromosome (GO:0000793)|condensed chromosome kinetochore (GO:0000777)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|spindle (GO:0005819)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)										AAACGTGCCCTTTTTCCAGAG	0.517																																						ENST00000361283.1																			0											c.(1648-1650)cTt>cCt		chromosome alignment maintaining phosphoprotein 1							211	240	230					13																	115090966		2203	4300	6503	SO:0001583	missense	283489				attachment of spindle microtubules to kinetochore involved in mitotic sister chromatid segregation|protein localization to kinetochore|protein localization to microtubule|sister chromatid biorientation	condensed chromosome kinetochore|cytoplasm|nucleus|spindle	nucleic acid binding|protein binding|zinc ion binding	g.chr13:115090966T>C	AK074894	CCDS9545.1	13q34	2013-01-07	2011-10-07	2011-10-07	ENSG00000198824	ENSG00000198824		"Zinc fingers, C2H2-type"	20311	protein-coding gene	gene with protein product	"chromosome alignment-maintaining phosphoprotein"		"chromosome 13 open reading frame 8", "zinc finger protein 828"	C13orf8, ZNF828		21063390	Standard	NM_032436		Approved	CAMP, CHAMP	uc010ahb.3	Q96JM3	OTTHUMG00000017404	ENST00000361283.1:c.1649T>C	13.37:g.115090966T>C	ENSP00000354730:p.Leu550Pro						p.L550P	NM_001164144.1|NM_001164145.1|NM_032436.2	NP_001157616.1|NP_001157617.1|NP_115812.1	Q96JM3	ZN828_HUMAN			3	1958	+			550			Mediates localization to the spindle and the kinetochore and is required for the attachment of spindle microtubules to the kinetochore.|Pro-rich.		B3KU06|Q6P181|Q8NC88|Q9BST0	Missense_Mutation	SNP	ENST00000361283.1	37	c.1649T>C	CCDS9545.1	.	.	.	.	.	.	.	.	.	.	T	16.08	3.020892	0.54576	.	.	ENSG00000198824	ENST00000361283	T	0.01902	4.57	5.59	5.59	0.84812	.	0.000000	0.51477	D	0.000081	T	0.07188	0.0182	M	0.65498	2.005	0.58432	D	0.999996	P	0.51537	0.946	P	0.51777	0.679	T	0.19257	-1.0311	9	.	.	.	-17.4144	14.3423	0.66636	0.0:0.0:0.0:1.0	.	550	Q96JM3	ZN828_HUMAN	P	550	ENSP00000354730:L550P	.	L	+	2	0	ZNF828	114109068	0.995000	0.38212	0.981000	0.43875	0.990000	0.78478	3.159000	0.50731	2.126000	0.65437	0.528000	0.53228	CTT		0.517	CHAMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045977.2	NM_032436		4	328	0	0	0	1	0	4	328					C	115090966	T	C	115090966	3	2	100	1	0	0	0	0	1	0	0	0	18178	1609	56	4	1651	4	ZNF828	13	115090966	Missense_Mutation	SNP	T	TCGA-EJ-7789-01A-11D-2114-08		115090966	78912	30	5608											
FOXA1	3169	broad.mit.edu	37	chr14	38061229	38061229	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	caagtagcagccgttctcgaAcatgttgccggagtccgggt	8	9	13	11	4	1	0	0	0	1	0	3	2	2	1	3	2	4	4	3	2	3	3			TCGA-EJ-7789-01A-11D-2114-08	TCGA-EJ-7789-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d415be01-5bb2-4be0-9a02-9c70e461faa3	316e21f4-9c3d-41d4-aafd-5fb3c3743ba2	g.chr14:38061229A>C	ENST00000250448.2	-	2	821	c.760T>G	c.(760-762)Ttc>Gtc	p.F254V	FOXA1_ENST00000545425.2_5'UTR|FOXA1_ENST00000540786.1_Missense_Mutation_p.F221V	NM_004496.3	NP_004487.2	P55317	FOXA1_HUMAN	forkhead box A1	254					anatomical structure formation involved in morphogenesis (GO:0048646)|chromatin remodeling (GO:0006338)|dorsal/ventral neural tube patterning (GO:0021904)|epithelial cell maturation involved in prostate gland development (GO:0060743)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|epithelial-mesenchymal signaling involved in prostate gland development (GO:0060738)|glucose homeostasis (GO:0042593)|hormone metabolic process (GO:0042445)|lung epithelial cell differentiation (GO:0060487)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron fate specification (GO:0048665)|positive regulation of cell-cell adhesion mediated by cadherin (GO:2000049)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prostate gland epithelium morphogenesis (GO:0060740)|prostate gland stromal morphogenesis (GO:0060741)|response to estradiol (GO:0032355)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)	microvillus (GO:0005902)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|endometrium(1)|large_intestine(2)|lung(3)|prostate(12)	19	Breast(36;0.0954)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		Lung(238;5.41e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0454)|LUSC - Lung squamous cell carcinoma(13;0.0917)|all cancers(34;0.0925)|BRCA - Breast invasive adenocarcinoma(188;0.239)	GBM - Glioblastoma multiforme(112;0.0222)		CCGTTCTCGAACATGTTGCCG	0.692																																						ENST00000250448.2																			0				breast(1)|endometrium(1)|large_intestine(2)|lung(3)|prostate(12)	19						c.(760-762)Ttc>Gtc		forkhead box A1							25	25	25					14																	38061229		2203	4300	6503	SO:0001583	missense	3169				chromatin remodeling|embryo development|epithelial cell maturation involved in prostate gland development|epithelial tube branching involved in lung morphogenesis|epithelial-mesenchymal signaling involved in prostate gland development|glucose homeostasis|lung epithelial cell differentiation|negative regulation of survival gene product expression|neuron fate specification|pattern specification process|positive regulation of estrogen receptor signaling pathway|positive regulation of mitotic cell cycle|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|prostate gland epithelium morphogenesis|prostate gland stromal morphogenesis|response to estradiol stimulus|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development	transcription factor complex	DNA bending activity|double-stranded DNA binding|protein domain specific binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding	g.chr14:38061229A>C	U39840	CCDS9665.1	14q12-q13	2008-04-10		2002-09-20	ENSG00000129514	ENSG00000129514		"Forkhead boxes"	5021	protein-coding gene	gene with protein product		602294	"hepatocyte nuclear factor 3, alpha"	HNF3A		9119385, 8652662	Standard	NM_004496		Approved		uc001wuf.4	P55317	OTTHUMG00000140253	ENST00000250448.2:c.760T>G	14.37:g.38061229A>C	ENSP00000250448:p.Phe254Val					FOXA1_ENST00000540786.1_Missense_Mutation_p.F221V|FOXA1_ENST00000545425.2_5'UTR	p.F254V	NM_004496.3	NP_004487.2	P55317	FOXA1_HUMAN	Lung(238;5.41e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0454)|LUSC - Lung squamous cell carcinoma(13;0.0917)|all cancers(34;0.0925)|BRCA - Breast invasive adenocarcinoma(188;0.239)	GBM - Glioblastoma multiforme(112;0.0222)	2	821	-	Breast(36;0.0954)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		254					B2R9H6|B7ZAP5|Q9H2A0	Missense_Mutation	SNP	ENST00000250448.2	37	c.760T>G	CCDS9665.1	.	.	.	.	.	.	.	.	.	.	A	24.8	4.568050	0.86439	.	.	ENSG00000129514	ENST00000250448;ENST00000540786	D;D	0.95918	-3.85;-3.85	3.92	3.92	0.45320	Winged helix-turn-helix transcription repressor DNA-binding (1);Transcription factor, fork head (3);	0.000000	0.85682	D	0.000000	D	0.97682	0.9240	M	0.88906	2.99	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98179	1.0456	10	0.87932	D	0	.	11.8486	0.52399	1.0:0.0:0.0:0.0	.	254	P55317	FOXA1_HUMAN	V	254;221	ENSP00000250448:F254V;ENSP00000440178:F221V	ENSP00000250448:F254V	F	-	1	0	FOXA1	37130980	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.933000	0.92911	1.648000	0.50643	0.329000	0.21502	TTC		0.692	FOXA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276735.1			10	16	0	0	0	1	0	10	16					C	38061229	A	C	38061229	3	2	100	1	0	0	0	0	1	0	0	0	5989	43	2	5	662	5	FOXA1	14	38061229	Missense_Mutation	SNP	A	TCGA-EJ-7789-01A-11D-2114-08		38061229	69288311	31	5609											
APBA2	321	broad.mit.edu	37	chr15	29393810	29393810	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctcccgacaggaaaccatGatggaccacgccttgcgtac	10	6	9	16	3	0	1	0	1	0	0	1	4	1	3	5	2	3	1	5	2	2	2			TCGA-EJ-7789-01A-11D-2114-08	TCGA-EJ-7789-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d415be01-5bb2-4be0-9a02-9c70e461faa3	316e21f4-9c3d-41d4-aafd-5fb3c3743ba2	g.chr15:29393810G>T	ENST00000558402.1	+	11	1946	c.1347G>T	c.(1345-1347)atG>atT	p.M449I	APBA2_ENST00000561069.1_Missense_Mutation_p.M449I|APBA2_ENST00000558330.1_Missense_Mutation_p.M437I|APBA2_ENST00000558259.1_Missense_Mutation_p.M449I|APBA2_ENST00000411764.1_Missense_Mutation_p.M437I			Q99767	APBA2_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 2	449	PID. {ECO:0000255|PROSITE- ProRule:PRU00148}.				in utero embryonic development (GO:0001701)|locomotory behavior (GO:0007626)|multicellular organism growth (GO:0035264)|nervous system development (GO:0007399)|protein transport (GO:0015031)|regulation of gene expression (GO:0010468)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)	beta-amyloid binding (GO:0001540)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|liver(2)|lung(33)|stomach(1)|urinary_tract(1)	59		all_lung(180;1.73e-12)|Breast(32;2.89e-05)|Colorectal(260;0.234)		all cancers(64;7.44e-11)|Epithelial(43;5.74e-10)|GBM - Glioblastoma multiforme(186;0.026)|BRCA - Breast invasive adenocarcinoma(123;0.0286)|Lung(196;0.24)		AGGAAACCATGATGGACCACG	0.577																																						ENST00000558402.1																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|liver(2)|lung(33)|stomach(1)|urinary_tract(1)	59						c.(1345-1347)atG>atT		amyloid beta (A4) precursor protein-binding, family A, member 2							96	67	77					15																	29393810		2203	4299	6502	SO:0001583	missense	321				nervous system development|protein transport		protein binding	g.chr15:29393810G>T	AB014719	CCDS10022.1, CCDS45197.1	15q11-q12	2008-07-18	2008-07-18		ENSG00000034053	ENSG00000034053			579	protein-coding gene	gene with protein product		602712	"X11-like", "amyloid beta (A4) precursor protein-binding, family A, member 2 (X11-like)"	X11L, MINT2		8955346	Standard	NM_005503		Approved	D15S1518E, LIN-10, MGC:14091, HsT16821	uc001zck.3	Q99767	OTTHUMG00000129255	ENST00000558402.1:c.1347G>T	15.37:g.29393810G>T	ENSP00000453293:p.Met449Ile					APBA2_ENST00000411764.1_Missense_Mutation_p.M437I|APBA2_ENST00000561069.1_Missense_Mutation_p.M449I|APBA2_ENST00000558259.1_Missense_Mutation_p.M449I|APBA2_ENST00000558330.1_Missense_Mutation_p.M437I	p.M449I			Q99767	APBA2_HUMAN		all cancers(64;7.44e-11)|Epithelial(43;5.74e-10)|GBM - Glioblastoma multiforme(186;0.026)|BRCA - Breast invasive adenocarcinoma(123;0.0286)|Lung(196;0.24)	11	1946	+		all_lung(180;1.73e-12)|Breast(32;2.89e-05)|Colorectal(260;0.234)	449			PID.		E9PGI4|O60571|Q5XKC0	Missense_Mutation	SNP	ENST00000558402.1	37	c.1347G>T	CCDS10022.1	.	.	.	.	.	.	.	.	.	.	G	19.13	3.767429	0.69878	.	.	ENSG00000034053	ENST00000411764;ENST00000219865;ENST00000382938	T	0.16597	2.33	4.27	4.27	0.50696	Phosphotyrosine interaction domain (3);Pleckstrin homology-type (1);	0.093790	0.64402	D	0.000002	T	0.22166	0.0534	L	0.55017	1.72	0.80722	D	1	B;B;B;B	0.34103	0.17;0.437;0.267;0.096	B;B;B;B	0.37943	0.194;0.241;0.194;0.261	T	0.05289	-1.0894	10	0.51188	T	0.08	.	16.2197	0.82251	0.0:0.0:1.0:0.0	.	437;141;437;449	Q5XKC0;Q6ZVB1;E9PGI4;Q99767	.;.;.;APBA2_HUMAN	I	437;449;141	ENSP00000409312:M437I	ENSP00000219865:M449I	M	+	3	0	APBA2	27181102	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.352000	0.97076	2.365000	0.80145	0.655000	0.94253	ATG		0.577	APBA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251362.3	NM_005503		3	26	1	0	1	1	1	3	26					T	29393810	G	T	29393810	3	4	100	1	0	0	0	0	1	0	0	0	757	1290	45	5	1373	5	APBA2	15	29393810	Missense_Mutation	SNP	G	TCGA-EJ-7789-01A-11D-2114-08		29393810	73137582	32	5610											
INO80	54617	broad.mit.edu	37	chr15	41272519	41272519	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gaggttcttgggattcccagGaacattatttcccttgctca	8	14	9	10	0	2	0	1	0	1	0	4	3	4	2	2	3	2	2	2	3	2	6			TCGA-EJ-7789-01A-11D-2114-08	TCGA-EJ-7789-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d415be01-5bb2-4be0-9a02-9c70e461faa3	316e21f4-9c3d-41d4-aafd-5fb3c3743ba2	g.chr15:41272519G>T	ENST00000361937.3	-	36	4997	c.4573C>A	c.(4573-4575)Cct>Act	p.P1525T	INO80_ENST00000401393.3_Missense_Mutation_p.P1525T			Q9ULG1	INO80_HUMAN	INO80 complex subunit	1525	Assembles INO80 complex module consisting of conserved components INO80B, INO80C, ACTR5, RVBL1, RVBL2.				ATP catabolic process (GO:0006200)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|chromatin remodeling (GO:0006338)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|mitotic sister chromatid segregation (GO:0000070)|positive regulation of cell growth (GO:0030307)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of G1/S transition of mitotic cell cycle (GO:2000045)|spindle assembly (GO:0051225)|UV-damage excision repair (GO:0070914)	Ino80 complex (GO:0031011)|microtubule (GO:0005874)|nucleus (GO:0005634)	alpha-tubulin binding (GO:0043014)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)			NS(1)|breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						GGATTCCCAGGAACATTATTT	0.557																																						ENST00000361937.3																			0				NS(1)|breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						c.(4573-4575)Cct>Act		INO80 complex subunit							106	105	105					15																	41272519		2203	4300	6503	SO:0001583	missense	54617				cell division|cellular response to ionizing radiation|cellular response to UV|chromatin remodeling|double-strand break repair via homologous recombination|mitotic sister chromatid segregation|positive regulation of cell growth|positive regulation of DNA replication involved in S phase|positive regulation of transcription from RNA polymerase II promoter|regulation of G1/S transition of mitotic cell cycle|spindle assembly|UV-damage excision repair	Ino80 complex|microtubule	actin binding|alpha-tubulin binding|ATP binding|ATPase activity|DNA binding|DNA helicase activity	g.chr15:41272519G>T	AB033085	CCDS10071.1	15q15.1	2013-08-21	2013-08-21	2008-08-07	ENSG00000128908	ENSG00000128908	3.6.1.3	"INO80 complex subunits"	26956	protein-coding gene	gene with protein product	"INO80 complex subunit A"	610169	"INO80 complex homolog 1 (S. cerevisiae)", "INO80 homolog (S. cerevisiae)"	INOC1		16298340, 16230350, 20237820	Standard	NM_017553		Approved	KIAA1259, Ino80, hINO80, INO80A	uc001zni.3	Q9ULG1	OTTHUMG00000130209	ENST00000361937.3:c.4573C>A	15.37:g.41272519G>T	ENSP00000355205:p.Pro1525Thr					INO80_ENST00000401393.3_Missense_Mutation_p.P1525T	p.P1525T			Q9ULG1	INO80_HUMAN			36	4997	-			1525			Assembles INO80 complex module consisting of conserved components INO80B, INO80C, ACTR5, RVBL1, RVBL2.		A6H8X4|Q9NTG6	Missense_Mutation	SNP	ENST00000361937.3	37	c.4573C>A	CCDS10071.1	.	.	.	.	.	.	.	.	.	.	G	10.33	1.321142	0.23994	.	.	ENSG00000128908	ENST00000361937;ENST00000401393	D;D	0.90261	-2.64;-2.64	5.4	5.4	0.78164	.	0.323200	0.33253	N	0.005118	T	0.78585	0.4306	N	0.08118	0	0.32477	N	0.542041	B	0.23058	0.079	B	0.16289	0.015	T	0.76512	-0.2932	10	0.44086	T	0.13	.	7.9123	0.29798	0.1303:0.0:0.8697:0.0	.	1525	Q9ULG1	INO80_HUMAN	T	1525	ENSP00000355205:P1525T;ENSP00000384686:P1525T	ENSP00000355205:P1525T	P	-	1	0	INO80	39059811	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.262000	0.51538	2.814000	0.96858	0.655000	0.94253	CCT		0.557	INO80-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252527.2	NM_017553		29	43	1	0	5.61819e-17	1	6.86667e-17	29	43					T	41272519	G	T	41272519	3	4	100	1	0	0	0	0	1	0	0	0	7746	1174	41	5	101	5	INO80	15	41272519	Missense_Mutation	SNP	G	TCGA-EJ-7789-01A-11D-2114-08	11878709	41272519	61258873	33	5611											
LCMT2	9836	broad.mit.edu	37	chr15	43620821	43620821	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aatctgatactcagagctcaAtcctgtagtcaaattgatca	14	12	6	9	0	5	3	4	2	1	1	6	3	6	3	1	0	2	2	1	0	5	3	rs538083093		TCGA-EJ-7789-01A-11D-2114-08	TCGA-EJ-7789-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d415be01-5bb2-4be0-9a02-9c70e461faa3	316e21f4-9c3d-41d4-aafd-5fb3c3743ba2	g.chr15:43620821A>G	ENST00000305641.5	-	1	1982	c.1867T>C	c.(1867-1869)Ttg>Ctg	p.L623L	ADAL_ENST00000389651.4_5'Flank|ADAL_ENST00000428046.3_5'Flank|ADAL_ENST00000422466.2_5'Flank|LCMT2_ENST00000567039.1_3'UTR|LCMT2_ENST00000544735.1_Silent_p.L202L	NM_014793.4	NP_055608.2	O60294	TYW4_HUMAN	leucine carboxyl methyltransferase 2	623					tRNA processing (GO:0008033)		methyltransferase activity (GO:0008168)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(2)|liver(1)|lung(9)|skin(1)|urinary_tract(1)	20		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;8.1e-07)	L-Leucine(DB00149)	TCAGAGCTCAATCCTGTAGTC	0.443																																						ENST00000305641.5																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(2)|liver(1)|lung(9)|skin(1)|urinary_tract(1)	20						c.(1867-1869)Ttg>Ctg		leucine carboxyl methyltransferase 2	L-Leucine(DB00149)						112	106	108					15																	43620821		2201	4299	6500	SO:0001819	synonymous_variant	9836				tRNA processing		methyltransferase activity|protein binding	g.chr15:43620821A>G	AF265443	CCDS10094.1	15q15.3	2007-01-26			ENSG00000168806	ENSG00000168806			17558	protein-coding gene	gene with protein product	"tRNA-yW synthesizing protein 4"	611246				9628581, 17150819	Standard	NM_014793		Approved	KIAA0547, MGC9534, TYW4, PPM2	uc001zrg.3	O60294	OTTHUMG00000130705	ENST00000305641.5:c.1867T>C	15.37:g.43620821A>G						LCMT2_ENST00000544735.1_Silent_p.L202L|LCMT2_ENST00000567039.1_3'UTR	p.L623L	NM_014793.4	NP_055608.2	O60294	LCMT2_HUMAN		GBM - Glioblastoma multiforme(94;8.1e-07)	1	1982	-		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)	623					Q4JFT6|Q96B55|Q9NR10	Silent	SNP	ENST00000305641.5	37	c.1867T>C	CCDS10094.1																																																																																				0.443	LCMT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253205.1	NM_014793		42	34	0	0	0	1	0	42	34					G	43620821	A	G	43620821	2	3	100	1	0	0	0	0	0	0	0	1	8679	98	4	4		4	LCMT2	15	43620821	Silent	SNP	A	TCGA-EJ-7789-01A-11D-2114-08	2348302	43620821	58910571	34	5612											
VPS33B	26276	broad.mit.edu	37	chr15	91549633	91549633	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cattgagtagcaccttcaggCtcttgtcagaggatgtgact	9	12	11	9	0	3	3	2	2	1	1	3	4	3	4	1	2	1	3	1	2	1	4			TCGA-EJ-7789-01A-11D-2114-08	TCGA-EJ-7789-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d415be01-5bb2-4be0-9a02-9c70e461faa3	316e21f4-9c3d-41d4-aafd-5fb3c3743ba2	g.chr15:91549633C>A	ENST00000333371.3	-	11	1174	c.821G>T	c.(820-822)aGc>aTc	p.S274I	VPS33B_ENST00000535906.1_Missense_Mutation_p.S247I|VPS33B_ENST00000535843.1_Missense_Mutation_p.S183I	NM_018668.3	NP_061138.3	Q9H267	VP33B_HUMAN	vacuolar protein sorting 33 homolog B (yeast)	274					lysosome localization (GO:0032418)|melanosome localization (GO:0032400)|membrane fusion (GO:0061025)|platelet alpha granule organization (GO:0070889)|protein transport (GO:0015031)|vesicle docking involved in exocytosis (GO:0006904)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|platelet alpha granule (GO:0031091)				central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|stomach(2)	16	Lung NSC(78;0.0987)|all_lung(78;0.175)					CACCTTCAGGCTCTTGTCAGA	0.562																																						ENST00000333371.3																			0				central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|stomach(2)	16						c.(820-822)aGc>aTc		vacuolar protein sorting 33 homolog B (yeast)							102	99	100					15																	91549633		2198	4298	6496	SO:0001583	missense	26276				cellular membrane fusion|lysosome localization|melanosome localization|platelet alpha granule organization|protein transport|vesicle docking involved in exocytosis	late endosome membrane|lysosomal membrane|perinuclear region of cytoplasm|platelet alpha granule	protein binding	g.chr15:91549633C>A	AF201694	CCDS10369.1, CCDS73783.1	15q26.1	2006-12-19	2006-12-19		ENSG00000184056	ENSG00000184056			12712	protein-coding gene	gene with protein product		608552	"vacuolar protein sorting 33B (yeast homolog)"			8996080	Standard	XM_005254887		Approved	FLJ14848	uc002bqp.1	Q9H267	OTTHUMG00000149835	ENST00000333371.3:c.821G>T	15.37:g.91549633C>A	ENSP00000327650:p.Ser274Ile					VPS33B_ENST00000535906.1_Missense_Mutation_p.S247I|VPS33B_ENST00000535843.1_Missense_Mutation_p.S183I	p.S274I	NM_018668.3	NP_061138.3	Q9H267	VP33B_HUMAN			11	1174	-	Lung NSC(78;0.0987)|all_lung(78;0.175)		274					B3KQF6|Q96K14|Q9NRP6|Q9NSF3	Missense_Mutation	SNP	ENST00000333371.3	37	c.821G>T	CCDS10369.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.151671	0.78001	.	.	ENSG00000184056	ENST00000333371;ENST00000535906;ENST00000535843;ENST00000537510	T;T;T	0.77098	-1.07;-1.07;-1.07	5.35	5.35	0.76521	.	0.000000	0.85682	D	0.000000	T	0.77478	0.4136	L	0.50333	1.59	0.80722	D	1	B;P	0.34562	0.402;0.457	B;B	0.40901	0.295;0.343	T	0.75819	-0.3183	10	0.40728	T	0.16	-16.9692	17.0004	0.86380	0.0:1.0:0.0:0.0	.	247;274	F5H008;Q9H267	.;VP33B_HUMAN	I	274;247;183;229	ENSP00000327650:S274I;ENSP00000444053:S247I;ENSP00000446267:S183I	ENSP00000327650:S274I	S	-	2	0	VPS33B	89350637	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.789000	0.62446	2.776000	0.95493	0.655000	0.94253	AGC		0.562	VPS33B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313496.1	NM_018668		4	106	1	0	1	1	1	4	106					A	91549633	C	A	91549633	3	1	100	1	0	0	0	0	1	0	0	0	17199	797	28	5	1084	5	VPS33B	15	91549633	Missense_Mutation	SNP	C	TCGA-EJ-7789-01A-11D-2114-08	47928812	91549633	10981759	35	5613											
ACSM2B	348158	broad.mit.edu	37	chr16	20570613	20570613	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcaggcactcggggcagcaTcactgccacacgatccccac	9	5	9	18	2	2	0	2	0	0	0	4	1	3	0	3	3	2	3	3	3	0	0	rs374648082		TCGA-EJ-7789-01A-11D-2114-08	TCGA-EJ-7789-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d415be01-5bb2-4be0-9a02-9c70e461faa3	6ec93e5e-92dc-4e51-95f2-a74eee00cf98	g.chr16:20570613T>C	ENST00000329697.6	-	3	502	c.334A>G	c.(334-336)Atg>Gtg	p.M112V	ACSM2B_ENST00000567001.1_Missense_Mutation_p.M112V|ACSM2B_ENST00000565232.1_Missense_Mutation_p.M112V|ACSM2B_ENST00000565322.1_Missense_Mutation_p.M33V|ACSM2B_ENST00000414188.2_Missense_Mutation_p.M112V	NM_001105069.1	NP_001098539.1	Q68CK6	ACS2B_HUMAN	acyl-CoA synthetase medium-chain family member 2B	112					fatty acid metabolic process (GO:0006631)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|metal ion binding (GO:0046872)			breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5)	57						CGGGGCAGCATCACTGCCACA	0.552													t|||	1	0.000199681	8e-04	0	5008	,	,		16639	0		0	False		,,,				2504	0					ENST00000329697.6																			0				breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5)	57						c.(334-336)Atg>Gtg		acyl-CoA synthetase medium-chain family member 2B							80	64	69					16																	20570613		2201	4300	6501	SO:0001583	missense	348158				fatty acid metabolic process|xenobiotic metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|CoA-ligase activity|metal ion binding	g.chr16:20570613T>C	AY160217	CCDS10586.1	16p12.3	2014-08-08	2007-06-20	2007-06-20	ENSG00000066813	ENSG00000066813		"Acyl-CoA synthetase family"	30931	protein-coding gene	gene with protein product	"xenobiotic/medium chain fatty acid:CoA ligase"	614359	"acyl-CoA synthetase medium-chain family member 2"	ACSM2		12616642	Standard	NM_182617		Approved	HXMA, HYST1046	uc002dhk.4	Q68CK6	OTTHUMG00000131555	ENST00000329697.6:c.334A>G	16.37:g.20570613T>C	ENSP00000327453:p.Met112Val					ACSM2B_ENST00000565322.1_Missense_Mutation_p.M33V|ACSM2B_ENST00000565232.1_Missense_Mutation_p.M112V|ACSM2B_ENST00000414188.2_Missense_Mutation_p.M112V|ACSM2B_ENST00000567001.1_Missense_Mutation_p.M112V	p.M112V	NM_001105069.1	NP_001098539.1	Q68CK6	ACS2B_HUMAN			3	502	-			112					Q86YT1	Missense_Mutation	SNP	ENST00000329697.6	37	c.334A>G	CCDS10586.1	.	.	.	.	.	.	.	.	.	.	t	0.019	-1.457556	0.01071	.	.	ENSG00000066813	ENST00000329697;ENST00000414188	T;T	0.40225	1.04;1.04	3.51	1.34	0.21922	AMP-dependent synthetase/ligase (1);	0.418948	0.17928	N	0.157273	T	0.15565	0.0375	N	0.04373	-0.215	0.20975	N	0.999816	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.20405	-1.0276	10	0.14656	T	0.56	-12.621	4.4767	0.11746	0.0:0.499:0.0:0.501	.	112;112	A8K051;Q68CK6	.;ACS2B_HUMAN	V	112	ENSP00000327453:M112V;ENSP00000390378:M112V	ENSP00000327453:M112V	M	-	1	0	ACSM2B	20478114	0.087000	0.21565	0.873000	0.34254	0.106000	0.19336	0.278000	0.18753	0.682000	0.31407	-0.190000	0.12839	ATG		0.552	ACSM2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254417.2	NM_182617		3	19	0	0	0	1	0	3	19					C	20570613	T	C	20570613	3	2	100	1	0	0	0	0	1	0	0	0	184	1435	50	4	1447	4	ACSM2B	16	20570613	Missense_Mutation	SNP	T	TCGA-EJ-7789-01A-11D-2114-08		20570613	69784140	36	5614											
CSNK2A2	1459	broad.mit.edu	37	chr16	58198010	58198010	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gagaccactggaaagcacagCattgtctgcacaaggctggg	12	6	13	10	0	1	1	0	0	1	1	1	3	1	2	1	3	3	4	1	3	2	1			TCGA-EJ-7789-01A-11D-2114-08	TCGA-EJ-7789-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d415be01-5bb2-4be0-9a02-9c70e461faa3	316e21f4-9c3d-41d4-aafd-5fb3c3743ba2	g.chr16:58198010C>A	ENST00000262506.3	-	11	1201	c.1018G>T	c.(1018-1020)Gct>Tct	p.A340S	CSNK2A2_ENST00000566813.1_5'UTR	NM_001896.2	NP_001887.1	P19784	CSK22_HUMAN	casein kinase 2, alpha prime polypeptide	340					apoptotic process (GO:0006915)|axon guidance (GO:0007411)|mitotic cell cycle (GO:0000278)|mitotic spindle checkpoint (GO:0071174)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein N-terminus binding (GO:0047485)|protein serine/threonine kinase activity (GO:0004674)			central_nervous_system(1)	1						GAAAGCACAGCATTGTCTGCA	0.527																																					Melanoma(54;119 1219 18349 35700 39738)	ENST00000262506.3																			0				central_nervous_system(1)	1						c.(1018-1020)Gct>Tct		casein kinase 2, alpha prime polypeptide							111	93	99					16																	58198010		2198	4300	6498	SO:0001583	missense	1459				axon guidance|Wnt receptor signaling pathway	cytosol|nucleus	ATP binding|protein N-terminus binding|protein serine/threonine kinase activity	g.chr16:58198010C>A	M55268	CCDS10794.1	16q21	2013-01-17			ENSG00000070770	ENSG00000070770			2459	protein-coding gene	gene with protein product		115442				2174700, 1766873	Standard	NM_001896		Approved	CSNK2A1	uc002enc.3	P19784	OTTHUMG00000133488	ENST00000262506.3:c.1018G>T	16.37:g.58198010C>A	ENSP00000262506:p.Ala340Ser					CSNK2A2_ENST00000566813.1_5'UTR	p.A340S	NM_001896.2	NP_001887.1	P19784	CSK22_HUMAN			11	1201	-			340						Missense_Mutation	SNP	ENST00000262506.3	37	c.1018G>T	CCDS10794.1	.	.	.	.	.	.	.	.	.	.	C	11.11	1.542429	0.27563	.	.	ENSG00000070770	ENST00000262506	T	0.65732	-0.17	5.61	3.53	0.40419	.	0.283632	0.40144	N	0.001176	T	0.38532	0.1044	N	0.16368	0.405	0.26355	N	0.97715	B	0.06786	0.001	B	0.06405	0.002	T	0.15896	-1.0421	10	0.09338	T	0.73	-4.2847	8.302	0.32019	0.1536:0.7634:0.0:0.083	.	340	P19784	CSK22_HUMAN	S	340	ENSP00000262506:A340S	ENSP00000262506:A340S	A	-	1	0	CSNK2A2	56755511	0.932000	0.31603	0.932000	0.37286	0.999000	0.98932	1.605000	0.36815	1.471000	0.48121	0.655000	0.94253	GCT		0.527	CSNK2A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257386.2	NM_001896		3	40	1	0	1	1	1	3	40					A	58198010	C	A	58198010	3	1	100	1	0	0	0	0	1	0	0	0	3958	710	25	5	38	5	CSNK2A2	16	58198010	Missense_Mutation	SNP	C	TCGA-EJ-7789-01A-11D-2114-08	37627397	58198010	32156743	37	5615											
C16orf3	2622	broad.mit.edu	37	chr16	90095609	90095609	+	Intron	SNP	C	C	T																															gcaggctatggggcagcctaCggggcaggctacggggcagg																								rs76322535		TCGA-EJ-7789-01A-11D-2114-08	TCGA-EJ-7789-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d415be01-5bb2-4be0-9a02-9c70e461faa3	316e21f4-9c3d-41d4-aafd-5fb3c3743ba2	g.chr16:90095609C>T	ENST00000268699.4	+	2	212				C16orf3_ENST00000408886.2_Missense_Mutation_p.V48I|GAS8_ENST00000540721.1_Intron|GAS8_ENST00000536122.1_Intron	NM_001481.2	NP_001472.1	O95995	GAS8_HUMAN	growth arrest-specific 8						cellular protein localization (GO:0034613)|negative regulation of cell proliferation (GO:0008285)|sperm motility (GO:0030317)	Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|motile cilium (GO:0031514)				endometrium(3)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	14		all_cancers(9;4.44e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.00118)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.029)		gggcagcctacggggcaggct	0.672																																						ENST00000408886.2																			0				large_intestine(1)|lung(2)|prostate(1)	4						c.(142-144)Gta>Ata		chromosome 16 open reading frame 3							22	25	24					16																	90095609		2197	4299	6496	SO:0001627	intron_variant	750							g.chr16:90095609C>T	AF050079	CCDS10992.1, CCDS67101.1, CCDS73932.1	16q24.3	2014-07-18	2003-01-16	2003-01-17	ENSG00000141013	ENSG00000141013			4166	protein-coding gene	gene with protein product		605178	"growth arrest-specific 11"	GAS11		9790751	Standard	NM_001481		Approved		uc002fqi.1	O95995	OTTHUMG00000138988	ENST00000268699.4:c.90+1479C>T	16.37:g.90095609C>T						GAS8_ENST00000268699.4_Intron|GAS8_ENST00000540721.1_Intron|GAS8_ENST00000536122.1_Intron	p.V48I	NM_001214.3	NP_001205.3	O95177	CP003_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0272)	1	700	-		all_cancers(9;9.01e-08)|Hepatocellular(780;0.000325)|Lung NSC(15;0.0104)|all_lung(18;0.0239)	48		Missing (in short isoform).			B2RCT1|B7Z4U1|G3V1L5|Q2M234	Missense_Mutation	SNP	ENST00000268699.4	37	c.142G>A	CCDS10992.1	17	0.007783882783882784	16	0.032520325203252036	1	0.0027624309392265192	0	0.0	0	0.0	N	0.178	-1.064676	0.01934	.	.	ENSG00000221819	ENST00000408886	T	0.55052	0.54	0.668	-1.34	0.09143	.	.	.	.	.	T	0.08268	0.0206	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.05500	-1.0881	7	.	.	.	.	.	.	.	.	56	O95177	CP003_HUMAN	I	48	ENSP00000386218:V48I	.	V	-	1	0	C16orf3	88623110	0.000000	0.05858	0.000000	0.03702	0.021000	0.10359	-2.485000	0.00979	-3.256000	0.00203	-2.337000	0.00247	GTA		0.672	GAS8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000272877.2			3	8	0	0	0	1	0	3	8					T	90095609	C	T	90095609	1	4	100	0	1	0	0	0	0	0	0	0	1812	536	19	1		1	C16orf3	16	90095609	Intron	SNP	C	TCGA-EJ-7789-01A-11D-2114-08	31897599	90095609	259144	38	5616	31	2									
C16orf3	2622	broad.mit.edu	37	chr16	90095617	90095617	+	Intron	SNP	G	G	C																															tggggcagcctacggggcagGctacggggcaggcccttgca																										TCGA-EJ-7789-01A-11D-2114-08	TCGA-EJ-7789-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d415be01-5bb2-4be0-9a02-9c70e461faa3	316e21f4-9c3d-41d4-aafd-5fb3c3743ba2	g.chr16:90095617G>C	ENST00000268699.4	+	2	212				C16orf3_ENST00000408886.2_Missense_Mutation_p.A45G|GAS8_ENST00000540721.1_Intron|GAS8_ENST00000536122.1_Intron	NM_001481.2	NP_001472.1	O95995	GAS8_HUMAN	growth arrest-specific 8						cellular protein localization (GO:0034613)|negative regulation of cell proliferation (GO:0008285)|sperm motility (GO:0030317)	Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|motile cilium (GO:0031514)				endometrium(3)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	14		all_cancers(9;4.44e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.00118)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.029)		tacggggcaggctacggggca	0.677																																						ENST00000408886.2																			0				large_intestine(1)|lung(2)|prostate(1)	4						c.(133-135)gCc>gGc		chromosome 16 open reading frame 3							25	28	27					16																	90095617		2197	4300	6497	SO:0001627	intron_variant	750							g.chr16:90095617G>C	AF050079	CCDS10992.1, CCDS67101.1, CCDS73932.1	16q24.3	2014-07-18	2003-01-16	2003-01-17	ENSG00000141013	ENSG00000141013			4166	protein-coding gene	gene with protein product		605178	"growth arrest-specific 11"	GAS11		9790751	Standard	NM_001481		Approved		uc002fqi.1	O95995	OTTHUMG00000138988	ENST00000268699.4:c.90+1487G>C	16.37:g.90095617G>C						GAS8_ENST00000268699.4_Intron|GAS8_ENST00000540721.1_Intron|GAS8_ENST00000536122.1_Intron	p.A45G	NM_001214.3	NP_001205.3	O95177	CP003_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0272)	1	692	-		all_cancers(9;9.01e-08)|Hepatocellular(780;0.000325)|Lung NSC(15;0.0104)|all_lung(18;0.0239)	45					B2RCT1|B7Z4U1|G3V1L5|Q2M234	Missense_Mutation	SNP	ENST00000268699.4	37	c.134C>G	CCDS10992.1	.	.	.	.	.	.	.	.	.	.	g	4.286	0.052237	0.08291	.	.	ENSG00000221819	ENST00000408886	T	0.57273	0.41	.	.	.	.	.	.	.	.	T	0.33702	0.0872	N	0.08118	0	0.09310	N	1	P	0.41597	0.756	P	0.48114	0.567	T	0.23583	-1.0184	6	.	.	.	.	.	.	.	.	53	O95177	CP003_HUMAN	G	45	ENSP00000386218:A45G	.	A	-	2	0	C16orf3	88623118	.	.	0.002000	0.10522	0.041000	0.13682	.	.	-0.503000	0.06586	0.074000	0.15403	GCC		0.677	GAS8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000272877.2			3	9	0	0	0	1	0	3	9					C	90095617	G	C	90095617	1	2	100	0	1	0	0	0	0	0	0	0	1812	1203	42	5		5	C16orf3	16	90095617	Intron	SNP	G	TCGA-EJ-7789-01A-11D-2114-08	8	90095617	259136	39	5617	31	2									
NETO1	81832	broad.mit.edu	37	chr18	70461444	70461444	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cataatttgtatagactccaCaattccttcggaaccgccca	12	11	5	13	2	0	1	0	0	0	1	3	2	2	2	4	1	1	1	4	1	5	6			TCGA-EJ-7789-01A-11D-2114-08	TCGA-EJ-7789-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d415be01-5bb2-4be0-9a02-9c70e461faa3	316e21f4-9c3d-41d4-aafd-5fb3c3743ba2	g.chr18:70461444C>A	ENST00000327305.6	-	6	1204	c.547G>T	c.(547-549)Gtg>Ttg	p.V183L	NETO1_ENST00000583169.1_Missense_Mutation_p.V183L|NETO1_ENST00000299430.2_Missense_Mutation_p.V182L	NM_138966.3	NP_620416	Q8TDF5	NETO1_HUMAN	neuropilin (NRP) and tolloid (TLL)-like 1	183	CUB 2. {ECO:0000255|PROSITE- ProRule:PRU00059}.				memory (GO:0007613)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|receptor localization to synapse (GO:0097120)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|visual learning (GO:0008542)	cell junction (GO:0030054)|excitatory synapse (GO:0060076)|extracellular region (GO:0005576)|kainate selective glutamate receptor complex (GO:0032983)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)				NS(3)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(36)|ovary(2)|prostate(3)|skin(3)|stomach(1)	63		Esophageal squamous(42;0.129)		READ - Rectum adenocarcinoma(1;0.0487)		ATAGACTCCACAATTCCTTCG	0.433																																						ENST00000327305.6																			0				NS(3)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(36)|ovary(2)|prostate(3)|skin(3)|stomach(1)	63						c.(547-549)Gtg>Ttg		neuropilin (NRP) and tolloid (TLL)-like 1							124	114	117					18																	70461444		2203	4300	6503	SO:0001583	missense	81832				memory|regulation of long-term neuronal synaptic plasticity|visual learning	cell junction|excitatory synapse|extracellular region|integral to membrane|postsynaptic density|postsynaptic membrane	receptor activity	g.chr18:70461444C>A	AF448838	CCDS12000.1, CCDS42444.1	18q22.2	2008-08-01			ENSG00000166342	ENSG00000166342			13823	protein-coding gene	gene with protein product		607973				11943477, 12810072	Standard	NM_138999		Approved	BTCL1, BCTL1	uc002lkw.3	Q8TDF5	OTTHUMG00000132834	ENST00000327305.6:c.547G>T	18.37:g.70461444C>A	ENSP00000313088:p.Val183Leu					NETO1_ENST00000299430.2_Missense_Mutation_p.V182L|NETO1_ENST00000583169.1_Missense_Mutation_p.V183L	p.V183L	NM_138966.3	NP_620416.1	Q8TDF5	NETO1_HUMAN		READ - Rectum adenocarcinoma(1;0.0487)	6	1204	-		Esophageal squamous(42;0.129)	183			CUB 2.		Q86W85|Q8ND78|Q8TDF4	Missense_Mutation	SNP	ENST00000327305.6	37	c.547G>T	CCDS12000.1	.	.	.	.	.	.	.	.	.	.	C	16.25	3.069509	0.55539	.	.	ENSG00000166342	ENST00000327305;ENST00000299430	T;T	0.34667	1.35;1.35	5.29	5.29	0.74685	CUB (4);	0.123437	0.36167	N	0.002752	T	0.34337	0.0894	L	0.50333	1.59	0.80722	D	1	B;B	0.23891	0.093;0.025	B;B	0.27715	0.082;0.057	T	0.10613	-1.0622	10	0.38643	T	0.18	-17.7823	12.3093	0.54920	0.0:0.9222:0.0:0.0778	.	182;183	Q8TDF5-2;Q8TDF5	.;NETO1_HUMAN	L	183;182	ENSP00000313088:V183L;ENSP00000299430:V182L	ENSP00000299430:V182L	V	-	1	0	NETO1	68612424	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	4.465000	0.60141	2.462000	0.83206	0.655000	0.94253	GTG		0.433	NETO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256301.2	NM_138999		3	58	1	0	1	1	1	3	58					A	70461444	C	A	70461444	3	1	100	1	0	0	0	0	1	0	0	0	10339	478	17	5	1074	5	NETO1	18	70461444	Missense_Mutation	SNP	C	TCGA-EJ-7789-01A-11D-2114-08		70461444	7615804	40	5618											
MUC16	94025	broad.mit.edu	37	chr19	9057080	9057080	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gccttggatggctccgagtgGattgaaacagaggaatatag	12	9	14	6	1	0	2	0	1	0	1	1	6	1	5	2	4	1	1	2	4	4	4	rs377149070		TCGA-EJ-7789-01A-11D-2114-08	TCGA-EJ-7789-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d415be01-5bb2-4be0-9a02-9c70e461faa3	316e21f4-9c3d-41d4-aafd-5fb3c3743ba2	g.chr19:9057080G>T	ENST00000397910.4	-	3	30569	c.30366C>A	c.(30364-30366)atC>atA	p.I10122I		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	10124	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GCTCCGAGTGGATTGAAACAG	0.463																																						ENST00000397910.4																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(30364-30366)atC>atA		mucin 16, cell surface associated		G		0,3878		0,0,1939	76	74	74		30366	-2.1	0	19		74	1,8293		0,1,4146	no	coding-synonymous	MUC16	NM_024690.2		0,1,6085	TT,TG,GG		0.0121,0.0,0.0082		10122/14508	9057080	1,12171	1939	4147	6086	SO:0001819	synonymous_variant	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9057080G>T	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.30366C>A	19.37:g.9057080G>T							p.I10122I	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			3	30569	-			10124			Ser-rich.|Thr-rich.		Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	c.30366C>A	CCDS54212.1																																																																																				0.463	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		15	32	1	0	2.62699e-14	1	3.14096e-14	15	32					T	9057080	G	T	9057080	2	4	100	1	0	0	0	0	0	0	0	1	9973	1164	41	5		5	MUC16	19	9057080	Silent	SNP	G	TCGA-EJ-7789-01A-11D-2114-08		9057080	50071903	41	5619											
ZNF439	90594	broad.mit.edu	37	chr19	11978582	11978582	+	Frame_Shift_Del	DEL	A	A	-																															cagtttatatcttatccatgAaagaactcacactggagaga																										TCGA-EJ-7789-01A-11D-2114-08	TCGA-EJ-7789-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d415be01-5bb2-4be0-9a02-9c70e461faa3	316e21f4-9c3d-41d4-aafd-5fb3c3743ba2	g.chr19:11978582delA	ENST00000304030.2	+	3	898	c.698delA	c.(697-699)gaafs	p.E233fs	ZNF439_ENST00000592534.1_Intron|ZNF439_ENST00000455282.1_Frame_Shift_Del_p.E97fs	NM_152262.2	NP_689475.1	Q8NDP4	ZN439_HUMAN	zinc finger protein 439	233					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(7)|pancreas(1)|skin(2)	27						CTTATCCATGAAAGAACTCAC	0.373																																						ENST00000304030.2																			0				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(7)|pancreas(1)|skin(2)	27						c.(697-699)gafs		zinc finger protein 439							98	97	97					19																	11978582		2203	4300	6503	SO:0001589	frameshift_variant	90594				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:11978582delA	AL833935	CCDS12268.1	19p13.13	2013-01-08			ENSG00000171291	ENSG00000171291		"Zinc fingers, C2H2-type", "-"	20873	protein-coding gene	gene with protein product							Standard	NM_152262		Approved	DKFZp571K0837	uc002mss.3	Q8NDP4	OTTHUMG00000156527	ENST00000304030.2:c.698delA	19.37:g.11978582delA	ENSP00000305077:p.Glu233fs					ZNF439_ENST00000592534.1_Intron|ZNF439_ENST00000455282.1_Frame_Shift_Del_p.E97fs	p.E233fs	NM_152262.2	NP_689475.1	Q8NDP4	ZN439_HUMAN			3	898	+			233					Q8IYZ7|Q96SU1	Frame_Shift_Del	DEL	ENST00000304030.2	37	c.698delA	CCDS12268.1																																																																																				0.373	ZNF439-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344513.1			46	53						46	53	---	---	---	---	-	11978582	A	-	11978582	7	5	100	1	0	1	0	1	0	0	0	0	17908	246	9	0	708	0	ZNF439	19	11978582	Frame_Shift_Del	DEL	A	TCGA-EJ-7789-01A-11D-2114-08	2921502	11978582	47150401	42	5620											
NOTCH3	4854	broad.mit.edu	37	chr19	15276765	15276765	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcgccagtacggtcagtccGtgccccaagctgagccccct	6	7	10	18	3	1	1	1	1	0	0	3	1	2	1	6	1	4	2	6	1	2	1	rs550464740		TCGA-EJ-7789-01A-11D-2114-08	TCGA-EJ-7789-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d415be01-5bb2-4be0-9a02-9c70e461faa3	316e21f4-9c3d-41d4-aafd-5fb3c3743ba2	g.chr19:15276765G>A	ENST00000263388.2	-	30	5575	c.5500C>T	c.(5500-5502)Cgg>Tgg	p.R1834W		NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	notch 3	1834					forebrain development (GO:0030900)|gene expression (GO:0010467)|glomerular capillary formation (GO:0072104)|negative regulation of neuron differentiation (GO:0045665)|neuron fate commitment (GO:0048663)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|positive regulation of smooth muscle cell proliferation (GO:0048661)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			CGGTCAGTCCGTGCCCCAAGC	0.612																																						ENST00000263388.2																			0				breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93						c.(5500-5502)Cgg>Tgg		notch 3							74	60	65					19																	15276765		2203	4300	6503	SO:0001583	missense	4854				Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	g.chr19:15276765G>A	U97669	CCDS12326.1	19p13.2-p13.1	2013-01-10	2010-06-24			ENSG00000074181		"Ankyrin repeat domain containing"	7883	protein-coding gene	gene with protein product		600276	"Notch (Drosophila) homolog 3", "Notch homolog 3 (Drosophila)"	CADASIL		7835890	Standard	NM_000435		Approved	CASIL	uc002nan.3	Q9UM47		ENST00000263388.2:c.5500C>T	19.37:g.15276765G>A	ENSP00000263388:p.Arg1834Trp						p.R1834W	NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)		30	5575	-			1834					Q9UEB3|Q9UPL3|Q9Y6L8	Missense_Mutation	SNP	ENST00000263388.2	37	c.5500C>T	CCDS12326.1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.451264	0.84209	.	.	ENSG00000074181	ENST00000263388	T	0.55760	0.5	5.36	3.14	0.36123	Ankyrin repeat-containing domain (4);	0.000000	0.30011	N	0.010622	T	0.65964	0.2742	M	0.70903	2.155	0.40774	D	0.983113	D	0.69078	0.997	P	0.58820	0.846	T	0.71269	-0.4643	10	0.87932	D	0	.	13.197	0.59745	0.0:0.0:0.7091:0.2909	.	1834	Q9UM47	NOTC3_HUMAN	W	1834	ENSP00000263388:R1834W	ENSP00000263388:R1834W	R	-	1	2	NOTCH3	15137765	1.000000	0.71417	0.301000	0.25044	0.976000	0.68499	5.351000	0.66022	0.756000	0.33013	0.655000	0.94253	CGG		0.612	NOTCH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465714.1	NM_000435		17	17	0	0	0	1	0	17	17					A	15276765	G	A	15276765	3	1	100	1	0	0	0	0	1	0	0	0	10550	1144	40	1	1481	1	NOTCH3	19	15276765	Missense_Mutation	SNP	G	TCGA-EJ-7789-01A-11D-2114-08	3298183	15276765	43852218	43	5621											
TGFB1	80776	broad.mit.edu	37	chr19	41858655	41858655	+	IGR	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ggcgtagtagtcggcctcagGctcgggctccggttctgcac	4	9	15	13	4	2	0	1	0	1	0	5	0	3	0	2	5	1	6	2	5	2	3			TCGA-EJ-7789-01A-11D-2114-08	TCGA-EJ-7789-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d415be01-5bb2-4be0-9a02-9c70e461faa3	316e21f4-9c3d-41d4-aafd-5fb3c3743ba2	g.chr19:41858655G>T	ENST00000243578.3	-	0	1027				CTC-435M10.3_ENST00000604424.1_Intron|TMEM91_ENST00000539627.1_Intron|TMEM91_ENST00000604123.1_5'Flank|TGFB1_ENST00000221930.5_Missense_Mutation_p.P99T	NM_030578.3	NP_085055.2	Q9BPU9	B9D2_HUMAN	B9 protein domain 2						cilium assembly (GO:0042384)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|TCTN-B9D complex (GO:0036038)	gamma-tubulin binding (GO:0043015)			large_intestine(1)|ovary(1)	2						TCGGCCTCAGGCTCGGGCTCC	0.731											OREG0025483	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000221930.5																			0				endometrium(1)|large_intestine(2)|lung(4)|skin(1)	8						c.(295-297)Cct>Act		transforming growth factor, beta 1	Hyaluronidase(DB00070)						24	25	25					19																	41858655		2202	4298	6500	SO:0001628	intergenic_variant	7040				active induction of host immune response by virus|ATP biosynthetic process|cell cycle arrest|cell growth|cell-cell junction organization|chondrocyte differentiation|connective tissue replacement involved in inflammatory response wound healing|epidermal growth factor receptor signaling pathway|evasion of host defenses by virus|hemopoietic progenitor cell differentiation|induction of apoptosis|lymph node development|mitotic cell cycle G1/S transition checkpoint|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of cell-cell adhesion|negative regulation of DNA replication|negative regulation of epithelial cell proliferation|negative regulation of fat cell differentiation|negative regulation of macrophage cytokine production|negative regulation of mitotic cell cycle|negative regulation of protein phosphorylation|ossification involved in bone remodeling|pathway-restricted SMAD protein phosphorylation|platelet activation|platelet degranulation|positive regulation of blood vessel endothelial cell migration|positive regulation of bone mineralization|positive regulation of cell division|positive regulation of chemotaxis|positive regulation of collagen biosynthetic process|positive regulation of epithelial to mesenchymal transition|positive regulation of fibroblast migration|positive regulation of interleukin-17 production|positive regulation of isotype switching to IgA isotypes|positive regulation of MAP kinase activity|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-threonine phosphorylation|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of protein dephosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of protein secretion|positive regulation of SMAD protein import into nucleus|protein export from nucleus|protein import into nucleus, translocation|receptor catabolic process|regulation of DNA binding|regulation of striated muscle tissue development|regulation of transforming growth factor beta receptor signaling pathway|response to cholesterol|response to estradiol stimulus|response to progesterone stimulus|salivary gland morphogenesis|SMAD protein complex assembly|SMAD protein import into nucleus|transforming growth factor beta receptor signaling pathway|viral infectious cycle	extracellular space|Golgi lumen|nucleus|platelet alpha granule lumen|proteinaceous extracellular matrix	growth factor activity|type II transforming growth factor beta receptor binding	g.chr19:41858655G>T	BC004157	CCDS12579.1	19q13.2	2014-01-28				ENSG00000123810			28636	protein-coding gene	gene with protein product		611951				21763481	Standard	NM_030578		Approved	MGC4093, MKS10	uc002oqj.2	Q9BPU9			19.37:g.41858655G>T			OREG0025483	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	904	TMEM91_ENST00000539627.1_Intron	p.P99T	NM_000660.4	NP_000651.3	P01137	TGFB1_HUMAN			1	1161	-			99						Missense_Mutation	SNP	ENST00000243578.3	37	c.295C>A	CCDS12579.1	.	.	.	.	.	.	.	.	.	.	G	0.009	-1.859871	0.00552	.	.	ENSG00000105329	ENST00000221930	T	0.64618	-0.11	4.06	1.75	0.24633	Transforming growth factor-beta, N-terminal (1);	0.267349	0.37012	N	0.002282	T	0.40498	0.1119	L	0.36672	1.1	0.38775	D	0.954646	B	0.15473	0.013	B	0.19391	0.025	T	0.20009	-1.0288	10	0.05833	T	0.94	-18.8432	4.1134	0.10070	0.1016:0.1631:0.5871:0.1481	.	99	P01137	TGFB1_HUMAN	T	99	ENSP00000221930:P99T	ENSP00000221930:P99T	P	-	1	0	TGFB1	46550495	0.007000	0.16637	0.326000	0.25389	0.001000	0.01503	1.352000	0.34033	0.912000	0.36772	-0.251000	0.11542	CCT		0.731	B9D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463489.1	NM_030578		13	24	1	0	1.99824e-07	1	2.33836e-07	13	24					T	41858655	G	T	41858655	1	4	100	0	1	0	0	0	0	0	0	0	15813	1203	42	5		5	TGFB1	19	41858655	IGR	SNP	G	TCGA-EJ-7789-01A-11D-2114-08	26581890	41858655	17270328	44	5622											
ZNF226	7769	broad.mit.edu	37	chr19	44681615	44681616	+	Frame_Shift_Del	DEL	AA	AA	-																															acaaatgtgatgtgtgtggtAaagtcttcagtcggtcttca																								rs368880544		TCGA-EJ-7789-01A-11D-2114-08	TCGA-EJ-7789-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d415be01-5bb2-4be0-9a02-9c70e461faa3	316e21f4-9c3d-41d4-aafd-5fb3c3743ba2	g.chr19:44681615_44681616delAA	ENST00000590089.1	+	7	2567_2568	c.2200_2201delAA	c.(2200-2202)aaafs	p.K734fs	ZNF226_ENST00000337433.5_Frame_Shift_Del_p.K734fs|ZNF226_ENST00000454662.2_Frame_Shift_Del_p.K734fs|ZNF226_ENST00000588883.1_3'UTR			Q9NYT6	ZN226_HUMAN	zinc finger protein 226	734					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)						Prostate(69;0.0352)|all_neural(266;0.202)				TGTGTGTGGTAAAGTCTTCAGT	0.45																																					Pancreas(115;581 1665 13228 19278 50070)	ENST00000590089.1																			0											c.(2200-2202)afs		zinc finger protein 226																																				SO:0001589	frameshift_variant	7769				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44681615_44681616delAA	AF024707	CCDS46102.1, CCDS46103.1	19q13.31	2013-01-08	2012-09-11	2012-09-11	ENSG00000167380	ENSG00000167380		"Zinc fingers, C2H2-type", "-"	13019	protein-coding gene	gene with protein product							Standard	NM_001146220		Approved		uc002oyp.3	Q9NYT6		ENST00000590089.1:c.2200_2201delAA	19.37:g.44681615_44681616delAA	ENSP00000465121:p.Lys734fs					ZNF226_ENST00000337433.5_Frame_Shift_Del_p.K734fs|ZNF226_ENST00000588883.1_3'UTR|ZNF226_ENST00000454662.2_Frame_Shift_Del_p.K734fs	p.K734fs			Q9NYT6	ZN226_HUMAN			7	2567_2568	+		Prostate(69;0.0352)|all_neural(266;0.202)	734					Q8WWE6|Q96TE6|Q9NS44	Frame_Shift_Del	DEL	ENST00000590089.1	37	c.2200_2201delAA	CCDS46102.1																																																																																				0.45	ZNF226-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460712.1			38	99						38	99	---	---	---	---	-	44681616	AA	-	44681615	7	5	100	1	0	1	0	1	0	0	0	0	17777	363	13	0	2268	0	ZNF226	19	44681615	Frame_Shift_Del	DEL	AA	TCGA-EJ-7789-01A-11D-2114-08	2822960	44681615	14447368	45	5623											
APOC4	346	broad.mit.edu	37	chr19	45445567	45445567	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaaacaggctccaggccctGcctgccctgtgcctctgcgt	6	8	11	16	1	1	1	0	0	1	1	2	1	2	1	5	2	5	1	5	2	1	0			TCGA-EJ-7789-01A-11D-2114-08	TCGA-EJ-7789-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d415be01-5bb2-4be0-9a02-9c70e461faa3	316e21f4-9c3d-41d4-aafd-5fb3c3743ba2	g.chr19:45445567G>T	ENST00000592954.1	+	1	73	c.33G>T	c.(31-33)ctG>ctT	p.L11L	APOC4_ENST00000591600.1_Silent_p.L11L|APOC4-APOC2_ENST00000589057.1_Silent_p.L11L|APOC4_ENST00000419266.2_Silent_p.L11L	NM_001646.2	NP_001637.1	P55056	APOC4_HUMAN	apolipoprotein C-IV	11					lipid metabolic process (GO:0006629)|positive regulation of sequestering of triglyceride (GO:0010890)|triglyceride homeostasis (GO:0070328)	high-density lipoprotein particle (GO:0034364)|very-low-density lipoprotein particle (GO:0034361)	lipid transporter activity (GO:0005319)			breast(1)|endometrium(1)|lung(2)	4	Lung NSC(12;0.00858)|all_lung(12;0.0197)	Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00334)|Epithelial(262;0.178)		TCCAGGCCCTGCCTGCCCTGT	0.657																																						ENST00000419266.2																			0											c.(31-33)ctG>ctT									65	53	57					19																	45445567		2203	4300	6503	SO:0001819	synonymous_variant	0							g.chr19:45445567G>T	U32576	CCDS12649.1	19q13.2	2013-09-30			ENSG00000267467	ENSG00000267467		"Apolipoproteins"	611	protein-coding gene	gene with protein product		600745				8530039	Standard	NM_001646		Approved			P55056	OTTHUMG00000180845	ENST00000592954.1:c.33G>T	19.37:g.45445567G>T						APOC4-APOC2_ENST00000589057.1_Silent_p.L11L|APOC4-APOC2_ENST00000436871.1_Silent_p.L11L|APOC4_ENST00000592954.1_Silent_p.L11L|APOC4_ENST00000591600.1_Silent_p.L11L	p.L11L							1	73	+								B3KWY6|Q53YY8	Silent	SNP	ENST00000592954.1	37	c.33G>T	CCDS12649.1																																																																																				0.657	APOC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453255.1	NM_001646		3	30	1	0	0.150653	1	0.162469	3	30					T	45445567	G	T	45445567	2	4	100	1	0	0	0	0	0	0	0	1	800	1306	46	5		5	APOC4	19	45445567	Silent	SNP	G	TCGA-EJ-7789-01A-11D-2114-08	763952	45445567	13683416	46	5624											
ACTR5	79913	broad.mit.edu	37	chr20	37400382	37400382	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ccatccgcctgccgaagcagGcctcccgctcctcagatgcc	6	6	9	20	3	1	1	1	0	0	1	4	2	4	1	8	1	3	2	8	1	1	0			TCGA-EJ-7789-01A-11D-2114-08	TCGA-EJ-7789-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d415be01-5bb2-4be0-9a02-9c70e461faa3	316e21f4-9c3d-41d4-aafd-5fb3c3743ba2	g.chr20:37400382G>A	ENST00000243903.4	+	9	1784	c.1747G>A	c.(1747-1749)Gcc>Acc	p.A583T		NM_024855.3	NP_079131.3	Q9H9F9	ARP5_HUMAN	ARP5 actin-related protein 5 homolog (yeast)	583					DNA recombination (GO:0006310)|double-strand break repair (GO:0006302)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|UV-damage excision repair (GO:0070914)	cytoplasm (GO:0005737)|Ino80 complex (GO:0031011)|nucleus (GO:0005634)				kidney(2)|large_intestine(2)|liver(1)|lung(5)|skin(2)	12		Myeloproliferative disorder(115;0.00878)				GCCGAAGCAGGCCTCCCGCTC	0.587																																						ENST00000243903.4																			0				kidney(2)|large_intestine(2)|liver(1)|lung(5)|skin(2)	12						c.(1747-1749)Gcc>Acc		ARP5 actin-related protein 5 homolog (yeast)							35	33	34					20																	37400382		2203	4300	6503	SO:0001583	missense	79913				DNA recombination|double-strand break repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent|UV-damage excision repair	cytoplasm|Ino80 complex	ATP binding|protein binding	g.chr20:37400382G>A	AK022847	CCDS13308.1	20q12	2011-07-06	2001-11-28		ENSG00000101442	ENSG00000101442		"INO80 complex subunits"	14671	protein-coding gene	gene with protein product	"INO80 complex subunit M"		"ARP5 (actin-related protein 5, yeast) homolog"			16230350	Standard	NM_024855		Approved	FLJ12785, Arp5, INO80M	uc002xjd.2	Q9H9F9	OTTHUMG00000032456	ENST00000243903.4:c.1747G>A	20.37:g.37400382G>A	ENSP00000243903:p.Ala583Thr						p.A583T	NM_024855.3	NP_079131.3	Q9H9F9	ARP5_HUMAN			9	1784	+		Myeloproliferative disorder(115;0.00878)	583					Q86WF7|Q8IUY5|Q8N724|Q9BRN0|Q9BVB7	Missense_Mutation	SNP	ENST00000243903.4	37	c.1747G>A	CCDS13308.1	.	.	.	.	.	.	.	.	.	.	G	12.98	2.101004	0.37048	.	.	ENSG00000101442	ENST00000243903	D	0.96168	-3.93	5.95	4.82	0.62117	.	0.169822	0.51477	D	0.000097	D	0.90116	0.6912	N	0.20986	0.625	0.41963	D	0.990711	B	0.17852	0.024	B	0.12156	0.007	D	0.85306	0.1076	10	0.18710	T	0.47	-19.4077	13.7572	0.62943	0.1248:0.0:0.8752:0.0	.	583	Q9H9F9	ARP5_HUMAN	T	583	ENSP00000243903:A583T	ENSP00000243903:A583T	A	+	1	0	ACTR5	36833796	1.000000	0.71417	1.000000	0.80357	0.905000	0.53344	2.547000	0.45786	2.833000	0.97629	0.655000	0.94253	GCC		0.587	ACTR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079205.2	NM_024855		19	13	0	0	0	1	0	19	13					A	37400382	G	A	37400382	3	1	100	1	0	0	0	0	1	0	0	0	215	1203	42	3	1781	3	ACTR5	20	37400382	Missense_Mutation	SNP	G	TCGA-EJ-7789-01A-11D-2114-08		37400382	25625138	47	5625											
CCT8	10694	broad.mit.edu	37	chr21	30440001	30440001	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gcatatgagaagccattacaAtcatttttgcagcaggatgc	13	11	9	8	0	1	1	1	1	0	1	1	3	1	2	1	1	5	3	1	1	4	4			TCGA-EJ-7789-01A-11D-2114-08	TCGA-EJ-7789-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d415be01-5bb2-4be0-9a02-9c70e461faa3	6ec93e5e-92dc-4e51-95f2-a74eee00cf98	g.chr21:30440001A>G	ENST00000286788.4	-	4	463	c.257T>C	c.(256-258)aTt>aCt	p.I86T	CCT8_ENST00000540844.1_Missense_Mutation_p.I13T|CCT8_ENST00000470450.1_5'UTR|CCT8_ENST00000542732.1_Missense_Mutation_p.I67T	NM_006585.2	NP_006576.2	P50990	TCPQ_HUMAN	chaperonin containing TCP1, subunit 8 (theta)	86					'de novo' posttranslational protein folding (GO:0051084)|ATP catabolic process (GO:0006200)|binding of sperm to zona pellucida (GO:0007339)|cellular protein metabolic process (GO:0044267)|protein folding (GO:0006457)	aggresome (GO:0016235)|cell body (GO:0044297)|centrosome (GO:0005813)|chaperonin-containing T-complex (GO:0005832)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intermediate filament cytoskeleton (GO:0045111)|microtubule (GO:0005874)|zona pellucida receptor complex (GO:0002199)	ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)			breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|liver(1)|lung(1)|prostate(3)	14						AGCCATTACAATCATTTTTGC	0.368																																						ENST00000286788.4																			0				breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|liver(1)|lung(1)|prostate(3)	14						c.(256-258)aTt>aCt		chaperonin containing TCP1, subunit 8 (theta)							85	81	83					21																	30440001		2203	4300	6503	SO:0001583	missense	10694				'de novo' posttranslational protein folding	aggresome|cytosol|intermediate filament cytoskeleton|microtubule organizing center	ATP binding|ATPase activity, coupled|unfolded protein binding	g.chr21:30440001A>G	Z37163	CCDS33528.1, CCDS68180.1	21q21.3	2011-09-02			ENSG00000156261	ENSG00000156261		"Heat Shock Proteins / Chaperonins"	1623	protein-coding gene	gene with protein product			"chromosome 21 open reading frame 112"	C21orf112		7890169	Standard	NM_006585		Approved	Cctq, PRED71	uc002ynb.3	P50990	OTTHUMG00000044595	ENST00000286788.4:c.257T>C	21.37:g.30440001A>G	ENSP00000286788:p.Ile86Thr					CCT8_ENST00000542732.1_Missense_Mutation_p.I67T|CCT8_ENST00000470450.1_5'UTR|CCT8_ENST00000540844.1_Missense_Mutation_p.I13T	p.I86T	NM_006585.2	NP_006576.2	P50990	TCPQ_HUMAN			4	463	-			86					A6NN54|B4DEM7|B4DQH4|Q4VBP8	Missense_Mutation	SNP	ENST00000286788.4	37	c.257T>C	CCDS33528.1	.	.	.	.	.	.	.	.	.	.	A	18.84	3.708472	0.68615	.	.	ENSG00000156261	ENST00000389159;ENST00000286788;ENST00000542732;ENST00000540844	T;T;T	0.14516	2.5;2.5;2.5	5.54	5.54	0.83059	.	0.351109	0.31145	N	0.008180	T	0.26484	0.0647	M	0.77820	2.39	0.53005	D	0.999965	P;B;P;B;B	0.40398	0.716;0.447;0.498;0.442;0.34	B;B;B;B;B	0.43867	0.355;0.434;0.355;0.241;0.113	T	0.03103	-1.1072	10	0.87932	D	0	-15.9753	15.9755	0.80060	1.0:0.0:0.0:0.0	.	13;67;86;86;86	B4DQH4;B4DEM7;Q53HU0;G5E9B2;P50990	.;.;.;.;TCPQ_HUMAN	T	86;86;67;13	ENSP00000286788:I86T;ENSP00000444984:I67T;ENSP00000442730:I13T	ENSP00000286788:I86T	I	-	2	0	CCT8	29361872	1.000000	0.71417	0.997000	0.53966	0.995000	0.86356	8.953000	0.93041	2.219000	0.72066	0.528000	0.53228	ATT		0.368	CCT8-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171822.1			5	87	0	0	0	1	0	5	87					G	30440001	A	G	30440001	3	3	100	1	0	0	0	0	1	0	0	0	2960	101	4	4	1437	4	CCT8	21	30440001	Missense_Mutation	SNP	A	TCGA-EJ-7789-01A-11D-2114-08		30440001	17689894	48	5626											
TRIOBP	11078	broad.mit.edu	37	chr22	38121491	38121491	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tacaacttgccatcccgggcCacctcttcctcccataaccc	8	9	4	20	1	1	0	0	0	1	0	4	0	4	0	7	1	4	0	7	1	3	4			TCGA-EJ-7789-01A-11D-2114-08	TCGA-EJ-7789-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d415be01-5bb2-4be0-9a02-9c70e461faa3	316e21f4-9c3d-41d4-aafd-5fb3c3743ba2	g.chr22:38121491C>T	ENST00000406386.3	+	7	3183	c.2928C>T	c.(2926-2928)gcC>gcT	p.A976A		NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	976					actin modification (GO:0030047)|barbed-end actin filament capping (GO:0051016)|mitotic nuclear division (GO:0007067)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	actin filament binding (GO:0051015)|GTP-Rho binding (GO:0017049)|myosin II binding (GO:0045159)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					CATCCCGGGCCACCTCTTCCT	0.637																																						ENST00000406386.3																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						c.(2926-2928)gcC>gcT		TRIO and F-actin binding protein							125	147	140					22																	38121491		2058	4185	6243	SO:0001819	synonymous_variant	11078				actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding	g.chr22:38121491C>T	AB051449	CCDS33644.1, CCDS43015.1, CCDS43016.1	22q13.1	2014-06-03			ENSG00000100106	ENSG00000100106		"Pleckstrin homology (PH) domain containing"	17009	protein-coding gene	gene with protein product		609761		DFNB28		11148140, 16385457, 16385458	Standard	NM_001039141		Approved	HRIHFB2122, KIAA1662, Tara, TAP68	uc003atr.3	Q9H2D6	OTTHUMG00000150657	ENST00000406386.3:c.2928C>T	22.37:g.38121491C>T						RP1-37E16.12_ENST00000455236.1_RNA	p.A976A	NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN			7	3183	+	Melanoma(58;0.0574)		976					B1AHD4|B1AHD7|F2Z2W0|F8W6V6|O94797|Q2PZW8|Q2Q3Z9|Q2Q400|Q5R3M6|Q96DW1|Q9BT77|Q9BTL7|Q9BY98|Q9Y3L4	Silent	SNP	ENST00000406386.3	37	c.2928C>T	CCDS43015.1																																																																																				0.637	TRIOBP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319439.2			5	284	0	0	0	1	0	5	284					T	38121491	C	T	38121491	2	4	100	1	0	0	0	0	0	0	0	1	16550	581	21	3		3	TRIOBP	22	38121491	Silent	SNP	C	TCGA-EJ-7789-01A-11D-2114-08		38121491	13183075	49	5627											
SRPX	8406	broad.mit.edu	37	chrX	38016273	38016273	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgttctgacacccacattgAcgttcatggctgtaatcaga	10	11	8	12	2	3	3	2	2	1	1	3	3	3	3	2	1	0	4	2	1	1	4	rs375474100		TCGA-EJ-7789-01A-11D-2114-08	TCGA-EJ-7789-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d415be01-5bb2-4be0-9a02-9c70e461faa3	316e21f4-9c3d-41d4-aafd-5fb3c3743ba2	g.chrX:38016273A>T	ENST00000378533.3	-	8	1071	c.965T>A	c.(964-966)gTc>gAc	p.V322D	TM4SF2_ENST00000465127.1_Intron|SRPX_ENST00000544439.1_Missense_Mutation_p.V302D|SRPX_ENST00000343800.6_Missense_Mutation_p.V309D|SRPX_ENST00000538295.1_Missense_Mutation_p.V322D|SRPX_ENST00000479015.1_5'UTR|SRPX_ENST00000432886.2_Missense_Mutation_p.V263D	NM_006307.4	NP_006298.1	P78539	SRPX_HUMAN	sushi-repeat containing protein, X-linked	322					autophagy (GO:0006914)|cell adhesion (GO:0007155)|negative regulation of cell proliferation involved in contact inhibition (GO:0060244)|phagolysosome assembly (GO:0001845)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|response to endoplasmic reticulum stress (GO:0034976)	autophagic vacuole (GO:0005776)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)				autonomic_ganglia(1)|breast(2)|endometrium(5)|large_intestine(5)|lung(10)|prostate(2)	25						ACCCACATTGACGTTCATGGC	0.478																																						ENST00000378533.3																			0				autonomic_ganglia(1)|breast(2)|endometrium(5)|large_intestine(5)|lung(10)|prostate(2)	25						c.(964-966)gTc>gAc		sushi-repeat containing protein, X-linked							109	91	97					X																	38016273		2202	4300	6502	SO:0001583	missense	8406				cell adhesion	cell surface|membrane		g.chrX:38016273A>T	U78093	CCDS14245.1, CCDS55400.1, CCDS55401.1, CCDS55402.1	Xp21.1	2011-01-25	2011-01-25		ENSG00000101955	ENSG00000101955			11309	protein-coding gene	gene with protein product		300187	"sushi-repeat-containing protein, X chromosome", "sushi-repeat-containing protein, X-linked"			8634708, 8634709	Standard	NM_006307		Approved	ETX1	uc004ddy.2	P78539	OTTHUMG00000021362	ENST00000378533.3:c.965T>A	X.37:g.38016273A>T	ENSP00000367794:p.Val322Asp					SRPX_ENST00000343800.6_Missense_Mutation_p.V309D|SRPX_ENST00000432886.2_Missense_Mutation_p.V263D|SRPX_ENST00000479015.1_5'UTR|TM4SF2_ENST00000465127.1_Intron|SRPX_ENST00000544439.1_Missense_Mutation_p.V302D|SRPX_ENST00000538295.1_Missense_Mutation_p.V322D	p.V322D	NM_006307.4	NP_006298.1	P78539	SRPX_HUMAN			8	1071	-			322					A8K065|B3KWP8|B4DDB8|B4DQH5|F5H4D7|G3V1L0|Q4VX66|Q99652|Q99913	Missense_Mutation	SNP	ENST00000378533.3	37	c.965T>A	CCDS14245.1	.	.	.	.	.	.	.	.	.	.	A	25.6	4.655226	0.88056	.	.	ENSG00000101955	ENST00000544439;ENST00000432886;ENST00000538295;ENST00000378533;ENST00000343800	T;T;T;T;T	0.18174	2.25;2.46;2.3;2.24;2.23	6.08	6.08	0.98989	Complement control module (1);	0.198417	0.52532	D	0.000072	T	0.28267	0.0698	L	0.31926	0.97	0.80722	D	1	D;P;D;D	0.60575	0.984;0.93;0.988;0.979	P;P;P;P	0.58721	0.844;0.613;0.804;0.642	T	0.01472	-1.1346	10	0.72032	D	0.01	-16.4829	15.4993	0.75684	1.0:0.0:0.0:0.0	.	322;263;302;322	F5H4D7;B4DQH5;G3V1L0;P78539	.;.;.;SRPX_HUMAN	D	302;263;322;322;309	ENSP00000440758:V302D;ENSP00000411165:V263D;ENSP00000445034:V322D;ENSP00000367794:V322D;ENSP00000339211:V309D	ENSP00000339211:V309D	V	-	2	0	SRPX	37901217	1.000000	0.71417	0.984000	0.44739	0.939000	0.58152	8.962000	0.93254	2.044000	0.60594	0.486000	0.48141	GTC		0.478	SRPX-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056243.1	NM_006307		7	30	0	0	0	1	0	7	30					T	38016273	A	T	38016273	3	4	100	1	0	0	0	0	1	0	0	0	15163	275	10	5	441	5	SRPX	23	38016273	Missense_Mutation	SNP	A	TCGA-EJ-7789-01A-11D-2114-08		38016273	117254287	50	5628											
FAM120C	54954	broad.mit.edu	37	chrX	54209302	54209303	+	In_Frame_Ins	INS	-	-	GGCGGC																															gggccccgggcagctgagggINSggcggcggcggcggcagcgg																										TCGA-EJ-7789-01A-11D-2114-08	TCGA-EJ-7789-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d415be01-5bb2-4be0-9a02-9c70e461faa3	316e21f4-9c3d-41d4-aafd-5fb3c3743ba2	g.chrX:54209302_54209303insGGCGGC	ENST00000375180.2	-	1	385_386	c.329_330insGCCGCC	c.(328-330)ccc>ccGCCGCCc	p.110_110P>PPP	FAM120C_ENST00000328235.4_In_Frame_Ins_p.110_110P>PPP|FAM120C_ENST00000497680.1_5'Flank|FAM120C_ENST00000477084.1_In_Frame_Ins_p.110_110P>PPP	NM_017848.4	NP_060318.3	Q9NX05	F120C_HUMAN	family with sequence similarity 120C	110							poly(A) RNA binding (GO:0044822)			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						GCAGCTGAGGGGGCGGCGGCGG	0.748														77	0.0203974	0.0045	0.0159	3775	,	,		9228	0		0.0467	False		,,,				2504	0.0133					ENST00000375180.2																			0				breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						c.(328-330)ccc>cGCCGCCcc		family with sequence similarity 120C																																				SO:0001652	inframe_insertion	54954							g.chrX:54209302_54209303insGGCGGC	AY150025	CCDS14356.1, CCDS55421.1, CCDS75987.1	Xp11.22	2011-04-13	2006-07-04	2006-07-04	ENSG00000184083	ENSG00000184083			16949	protein-coding gene	gene with protein product		300741	"chromosome X open reading frame 17"	CXorf17		14585507	Standard	XM_006724589		Approved	ORF34, FLJ20506	uc004dsz.4	Q9NX05	OTTHUMG00000021625	ENST00000375180.2:c.324_329dupGCCGCC	X.37:g.54209303_54209308dupGGCGGC	ENSP00000364324:p.ProPro110dup					FAM120C_ENST00000328235.4_In_Frame_Ins_p.109_110insRR|FAM120C_ENST00000477084.1_In_Frame_Ins_p.109_110insRR	p.109_110insRR	NM_017848.4	NP_060318.3	Q9NX05	F120C_HUMAN			1	385_386	-			109					B2RMT7	In_Frame_Ins	INS	ENST00000375180.2	37	c.329_330insGCCGCC	CCDS14356.1																																																																																				0.748	FAM120C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056795.2	NM_017848		4	2						4	2	---	---	---	---	GGCGGC	54209303	-	GGCGGC	54209302	7	5	100	1	0	1	1	0	0	0	0	0	5418	1219	43	0	3046	0	FAM120C	23	54209302	In_Frame_Ins	INS	-	TCGA-EJ-7789-01A-11D-2114-08	16193029	54209302	101061258	51	5629											
HTR1D	3352	broad.mit.edu	37	chr1	23520101	23520101	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	accgagggaatgtagaaggcCccacaggtggagtagatggt	12	6	16	7	1	0	2	0	0	0	2	0	5	0	4	3	5	0	2	3	5	4	2			TCGA-EJ-7791-01A-11D-2114-08	TCGA-EJ-7791-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d32f41fb-0744-4a62-81f6-0260c4920049	9ac76378-8ea0-4911-b4f2-043db4179a44	g.chr1:23520101C>T	ENST00000374619.1	-	1	1121	c.612G>A	c.(610-612)ggG>ggA	p.G204G	HTR1D_ENST00000314113.3_Silent_p.G204G	NM_000864.4	NP_000855.1	P28221	5HT1D_HUMAN	5-hydroxytryptamine (serotonin) receptor 1D, G protein-coupled	204					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|intestine smooth muscle contraction (GO:0014827)|regulation of behavior (GO:0050795)|regulation of locomotion (GO:0040012)|response to toxic substance (GO:0009636)|serotonin receptor signaling pathway (GO:0007210)|synaptic transmission (GO:0007268)|vasoconstriction (GO:0042310)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)			NS(1)|large_intestine(3)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	9		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.000779)|all_lung(284;0.00135)|Breast(348;0.0385)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0561)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;4.69e-27)|Colorectal(126;4.86e-08)|COAD - Colon adenocarcinoma(152;2.86e-06)|GBM - Glioblastoma multiforme(114;0.00012)|BRCA - Breast invasive adenocarcinoma(304;0.000949)|KIRC - Kidney renal clear cell carcinoma(1967;0.00122)|STAD - Stomach adenocarcinoma(196;0.0123)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.083)|LUSC - Lung squamous cell carcinoma(448;0.185)	Almotriptan(DB00918)|Amitriptyline(DB00321)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Clozapine(DB00363)|Dihydroergotamine(DB00320)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Frovatriptan(DB00998)|Ketamine(DB01221)|Lisuride(DB00589)|Loxapine(DB00408)|Naratriptan(DB00952)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Pramipexole(DB00413)|Quetiapine(DB01224)|Risperidone(DB00734)|Rizatriptan(DB00953)|Ropinirole(DB00268)|Sumatriptan(DB00669)|Trimipramine(DB00726)|Yohimbine(DB01392)|Ziprasidone(DB00246)|Zolmitriptan(DB00315)	TGTAGAAGGCCCCACAGGTGG	0.592																																						ENST00000374619.1																			0				NS(1)|large_intestine(3)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	9						c.(610-612)ggG>ggA		5-hydroxytryptamine (serotonin) receptor 1D, G protein-coupled	Almotriptan(DB00918)|Dihydroergotamine(DB00320)|Eletriptan(DB00216)|Ergotamine(DB00696)|Frovatriptan(DB00998)|Naratriptan(DB00952)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Tegaserod(DB01079)|Ziprasidone(DB00246)|Zolmitriptan(DB00315)						69	75	73					1																	23520101		2203	4300	6503	SO:0001819	synonymous_variant	3352				G-protein signaling, coupled to cyclic nucleotide second messenger|intestine smooth muscle contraction|synaptic transmission	integral to plasma membrane	serotonin receptor activity	g.chr1:23520101C>T	M89955	CCDS231.1	1p36.3-p34.3	2012-08-08	2012-02-03		ENSG00000179546	ENSG00000179546		"5-HT (serotonin) receptors", "GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"	5289	protein-coding gene	gene with protein product		182133	"5-hydroxytryptamine (serotonin) receptor 1D"	HTRL		2541503, 1662665	Standard	NM_000864		Approved	RDC4, HT1DA, 5-HT1D	uc001bgn.3	P28221	OTTHUMG00000003235	ENST00000374619.1:c.612G>A	1.37:g.23520101C>T						HTR1D_ENST00000314113.3_Silent_p.G204G	p.G204G	NM_000864.4	NP_000855.1	P28221	5HT1D_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;4.69e-27)|Colorectal(126;4.86e-08)|COAD - Colon adenocarcinoma(152;2.86e-06)|GBM - Glioblastoma multiforme(114;0.00012)|BRCA - Breast invasive adenocarcinoma(304;0.000949)|KIRC - Kidney renal clear cell carcinoma(1967;0.00122)|STAD - Stomach adenocarcinoma(196;0.0123)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.083)|LUSC - Lung squamous cell carcinoma(448;0.185)	1	1121	-		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.000779)|all_lung(284;0.00135)|Breast(348;0.0385)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0561)	204						Silent	SNP	ENST00000374619.1	37	c.612G>A	CCDS231.1																																																																																				0.592	HTR1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008924.1	NM_000864		3	59	0	0	0	0.115264	0	3	59					T	23520101	C	T	23520101	2	4	101	1	0	0	0	0	0	0	0	1	7438	610	22	3		3	HTR1D	1	23520101	Silent	SNP	C	TCGA-EJ-7791-01A-11D-2114-08		23520101	225730520	1	5630											
RXRG	6258	broad.mit.edu	37	chr1	165370516	165370516	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gggctcaggtgatctgcagcGgggtctccaacatctccatg	7	9	13	12	1	4	1	1	1	3	0	6	1	4	1	2	4	3	2	2	4	1	0			TCGA-EJ-7791-01A-11D-2114-08	TCGA-EJ-7791-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d32f41fb-0744-4a62-81f6-0260c4920049	9ac76378-8ea0-4911-b4f2-043db4179a44	g.chr1:165370516G>A	ENST00000359842.5	-	10	1678	c.1376C>T	c.(1375-1377)cCg>cTg	p.P459L		NM_001256570.1|NM_006917.4	NP_001243499.1|NP_008848.1	P48443	RXRG_HUMAN	retinoid X receptor, gamma	459	Ligand-binding. {ECO:0000250}.				gene expression (GO:0010467)|heart development (GO:0007507)|neuron differentiation (GO:0030182)|peripheral nervous system development (GO:0007422)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of myelination (GO:0031641)|response to retinoic acid (GO:0032526)|skeletal muscle tissue development (GO:0007519)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)	9-cis retinoic acid receptor activity (GO:0004886)|sequence-specific DNA binding (GO:0043565)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(3)|large_intestine(6)|lung(22)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	38	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)				Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Bexarotene(DB00307)|Tretinoin(DB00755)	GATCTGCAGCGGGGTCTCCAA	0.607																																						ENST00000359842.5																			0				endometrium(1)|kidney(3)|large_intestine(6)|lung(22)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	38						c.(1375-1377)cCg>cTg		retinoid X receptor, gamma	Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tretinoin(DB00755)						85	83	84					1																	165370516		2203	4300	6503	SO:0001583	missense	6258				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding	g.chr1:165370516G>A	U38480	CCDS1248.1, CCDS72970.1	1q22-q23	2013-01-16			ENSG00000143171	ENSG00000143171		"Nuclear hormone receptors"	10479	protein-coding gene	gene with protein product	"nuclear receptor subfamily 2 group B member 3"	180247				8034312	Standard	NR_033824		Approved	NR2B3	uc001gda.3	P48443	OTTHUMG00000034626	ENST00000359842.5:c.1376C>T	1.37:g.165370516G>A	ENSP00000352900:p.Pro459Leu						p.P459L	NM_001256570.1|NM_006917.4	NP_001243499.1|NP_008848.1	P48443	RXRG_HUMAN			10	1678	-	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)		459			Ligand-binding (By similarity).		A6NIP1|Q6IBU7	Missense_Mutation	SNP	ENST00000359842.5	37	c.1376C>T	CCDS1248.1	.	.	.	.	.	.	.	.	.	.	G	26.1	4.700413	0.88924	.	.	ENSG00000143171	ENST00000359842	D	0.92299	-3.01	4.62	4.62	0.57501	Nuclear hormone receptor, ligand-binding (1);	0.000000	0.85682	D	0.000000	D	0.94515	0.8234	M	0.62723	1.935	0.58432	D	0.999999	D	0.89917	1.0	D	0.83275	0.996	D	0.95133	0.8257	9	0.87932	D	0	.	16.1865	0.81959	0.0:0.0:1.0:0.0	.	459	P48443	RXRG_HUMAN	L	459	ENSP00000352900:P459L	ENSP00000352900:P459L	P	-	2	0	RXRG	163637140	1.000000	0.71417	0.993000	0.49108	0.998000	0.95712	9.291000	0.96070	2.377000	0.81083	0.555000	0.69702	CCG		0.607	RXRG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083794.2	NM_006917		9	161	0	0	0	0.335167	0	9	161					A	165370516	G	A	165370516	3	1	101	1	0	0	0	0	1	0	0	0	13765	1116	39	2	19	2	RXRG	1	165370516	Missense_Mutation	SNP	G	TCGA-EJ-7791-01A-11D-2114-08	141850415	165370516	83880105	2	5631											
B3GALT2	8707	broad.mit.edu	37	chr1	193150383	193150383	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgtaactccttgtggtgacaGgtctgtgttattagagttag	8	16	12	5	0	1	2	0	1	1	1	2	2	2	2	1	2	1	3	1	2	4	5			TCGA-EJ-7791-01A-11D-2114-08	TCGA-EJ-7791-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d32f41fb-0744-4a62-81f6-0260c4920049	9ac76378-8ea0-4911-b4f2-043db4179a44	g.chr1:193150383G>C	ENST00000367434.4	-	2	1065	c.310C>G	c.(310-312)Ctg>Gtg	p.L104V	CDC73_ENST00000367435.3_Intron	NM_003783.3	NP_003774.1	O43825	B3GT2_HUMAN	UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 2	104					oligosaccharide biosynthetic process (GO:0009312)|protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity (GO:0008499)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)	16						TGTGGTGACAGGTCTGTGTTA	0.418																																						ENST00000367434.4																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)	16						c.(310-312)Ctg>Gtg		UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 2							168	165	166					1																	193150383		2203	4300	6503	SO:0001583	missense	8707				protein glycosylation	Golgi membrane|integral to membrane	UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity	g.chr1:193150383G>C	Y15060	CCDS1383.1	1q31	2013-02-19			ENSG00000162630	ENSG00000162630		"Beta 3-glycosyltransferases"	917	protein-coding gene	gene with protein product		603018				9582303, 9417100	Standard	NM_003783		Approved	beta3Gal-T2	uc001gtc.4	O43825	OTTHUMG00000035687	ENST00000367434.4:c.310C>G	1.37:g.193150383G>C	ENSP00000356404:p.Leu104Val					CDC73_ENST00000367435.3_Intron	p.L104V	NM_003783.3	NP_003774.1	O43825	B3GT2_HUMAN			2	1065	-			104					B2RAB1|Q9BZQ9	Missense_Mutation	SNP	ENST00000367434.4	37	c.310C>G	CCDS1383.1	.	.	.	.	.	.	.	.	.	.	G	1.693	-0.503430	0.04261	.	.	ENSG00000162630	ENST00000367434	T	0.37584	1.19	5.26	2.34	0.29019	.	1.176280	0.06118	N	0.668405	T	0.28928	0.0718	L	0.34521	1.04	0.33555	D	0.596636	B	0.09022	0.002	B	0.04013	0.001	T	0.27262	-1.0079	10	0.27082	T	0.32	.	9.1756	0.37109	0.3576:0.0:0.6424:0.0	.	104	O43825	B3GT2_HUMAN	V	104	ENSP00000356404:L104V	ENSP00000356404:L104V	L	-	1	2	B3GALT2	191417006	0.277000	0.24220	0.943000	0.38184	0.994000	0.84299	0.831000	0.27476	0.721000	0.32231	0.563000	0.77884	CTG		0.418	B3GALT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086759.1	NM_003783		12	94	0	0	0	0.435327	0	12	94					C	193150383	G	C	193150383	3	2	101	1	0	0	0	0	1	0	0	0	1248	991	35	5	962	5	B3GALT2	1	193150383	Missense_Mutation	SNP	G	TCGA-EJ-7791-01A-11D-2114-08	27779867	193150383	56100238	3	5632											
GDF7	151449	broad.mit.edu	37	chr2	20870506	20870507	+	Frame_Shift_Ins	INS	-	-	C																															cgccaccgtcgtgaaccgcgINSccccccccgcgcgttctgcc																										TCGA-EJ-7791-01A-11D-2114-08	TCGA-EJ-7791-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d32f41fb-0744-4a62-81f6-0260c4920049	9ac76378-8ea0-4911-b4f2-043db4179a44	g.chr2:20870506_20870507insC	ENST00000272224.3	+	2	1250_1251	c.674_675insC	c.(673-678)cgccccfs	p.RP225fs		NM_182828.2	NP_878248.2	Q7Z4P5	GDF7_HUMAN	growth differentiation factor 7	225					activin receptor signaling pathway (GO:0032924)|axon guidance (GO:0007411)|BMP signaling pathway (GO:0030509)|branching morphogenesis of an epithelial tube (GO:0048754)|cell fate commitment (GO:0045165)|epithelial cell differentiation (GO:0030855)|forebrain morphogenesis (GO:0048853)|gland morphogenesis (GO:0022612)|growth (GO:0040007)|midbrain development (GO:0030901)|morphogenesis of an epithelial fold (GO:0060571)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of tendon cell differentiation (GO:2001051)|positive regulation of transcription, DNA-templated (GO:0045893)|reproductive structure development (GO:0048608)|roof plate formation (GO:0021509)|spinal cord association neuron differentiation (GO:0021527)	extracellular space (GO:0005615)				breast(1)|cervix(1)|endometrium(2)|lung(1)|prostate(1)|skin(1)	7	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CGTGAACCGCGCCCCCCCCGCG	0.752																																						ENST00000272224.3																			0				breast(1)|cervix(1)|endometrium(2)|lung(1)|prostate(1)|skin(1)	7						c.(673-675)cccfs		growth differentiation factor 7																																				SO:0001589	frameshift_variant	151449				activin receptor signaling pathway|BMP signaling pathway|growth|pathway-restricted SMAD protein phosphorylation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent	extracellular space	cytokine activity|growth factor activity	g.chr2:20870506_20870507insC	AF522369	CCDS1701.1	2p24.1	2008-05-22			ENSG00000143869	ENSG00000143869			4222	protein-coding gene	gene with protein product		604651				10022976, 9808626	Standard	NM_182828		Approved	BMP12	uc002rdz.1	Q7Z4P5	OTTHUMG00000090781	ENST00000272224.3:c.682dupC	2.37:g.20870514_20870514dupC	ENSP00000272224:p.Arg225fs						p.P225fs	NM_182828.2	NP_878248.2	Q7Z4P5	GDF7_HUMAN			2	1250_1251	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		225						Frame_Shift_Ins	INS	ENST00000272224.3	37	c.674_675insC	CCDS1701.1																																																																																				0.752	GDF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207563.2	NM_182828		2	4						2	4	---	---	---	---	C	20870507	-	C	20870506	7	5	101	1	0	1	1	0	0	0	0	0	6318	1087	38	0	680	0	GDF7	2	20870506	Frame_Shift_Ins	INS	-	TCGA-EJ-7791-01A-11D-2114-08		20870506	222328867	4	5633											
HSPD1	3329	broad.mit.edu	37	chr2	198353198	198353198	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcttttcattcacttcaacAtcacttgtcccaccaaccta	10	15	1	15	0	5	0	4	0	1	0	6	0	6	0	3	0	2	0	3	0	3	7			TCGA-EJ-7791-01A-11D-2114-08	TCGA-EJ-7791-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d32f41fb-0744-4a62-81f6-0260c4920049	9ac76378-8ea0-4911-b4f2-043db4179a44	g.chr2:198353198A>G	ENST00000388968.3	-	10	1500	c.1233T>C	c.(1231-1233)gaT>gaC	p.D411D	HSPD1_ENST00000345042.2_Silent_p.D411D	NM_002156.4	NP_002147.2	P10809	CH60_HUMAN	heat shock 60kDa protein 1 (chaperonin)	411					'de novo' protein folding (GO:0006458)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|ATP catabolic process (GO:0006200)|B cell activation (GO:0042113)|B cell cytokine production (GO:0002368)|B cell proliferation (GO:0042100)|chaperone-mediated protein complex assembly (GO:0051131)|isotype switching to IgG isotypes (GO:0048291)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|negative regulation of apoptotic process (GO:0043066)|positive regulation of apoptotic process (GO:0043065)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of macrophage activation (GO:0043032)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell mediated immune response to tumor cell (GO:0002842)|protein maturation (GO:0051604)|protein refolding (GO:0042026)|protein stabilization (GO:0050821)|response to unfolded protein (GO:0006986)|T cell activation (GO:0042110)|viral process (GO:0016032)	cell surface (GO:0009986)|coated pit (GO:0005905)|coated vesicle (GO:0030135)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lipopolysaccharide receptor complex (GO:0046696)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|secretory granule (GO:0030141)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|chaperone binding (GO:0051087)|DNA replication origin binding (GO:0003688)|double-stranded RNA binding (GO:0003725)|lipopolysaccharide binding (GO:0001530)|p53 binding (GO:0002039)|poly(A) RNA binding (GO:0044822)|single-stranded DNA binding (GO:0003697)|unfolded protein binding (GO:0051082)			NS(1)|breast(3)|endometrium(2)|large_intestine(3)|lung(7)|skin(1)	17			Epithelial(96;0.225)			TCACTTCAACATCACTTGTCC	0.413																																						ENST00000388968.3																			0				NS(1)|breast(3)|endometrium(2)|large_intestine(3)|lung(7)|skin(1)	17						c.(1231-1233)gaT>gaC		heat shock 60kDa protein 1 (chaperonin)							102	100	101					2																	198353198		2203	4299	6502	SO:0001819	synonymous_variant	3329				'de novo' protein folding|activation of caspase activity|B cell cytokine production|B cell proliferation|chaperone-mediated protein complex assembly|interspecies interaction between organisms|isotype switching to IgG isotypes|MyD88-dependent toll-like receptor signaling pathway|negative regulation of apoptosis|positive regulation of apoptosis|positive regulation of interferon-alpha production|positive regulation of interferon-gamma production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of macrophage activation|positive regulation of T cell activation|positive regulation of T cell mediated immune response to tumor cell|protein maturation|protein refolding|protein stabilization|response to unfolded protein|T cell activation	cell surface|coated pit|coated vesicle|cytosol|early endosome|extracellular space|lipopolysaccharide receptor complex|mitochondrial inner membrane|mitochondrial matrix|stored secretory granule	ATP binding|ATPase activity|cell surface binding|chaperone binding|DNA replication origin binding|lipopolysaccharide binding|p53 binding|single-stranded DNA binding	g.chr2:198353198A>G	M34664	CCDS33357.1	2q33.1	2011-09-02	2002-08-29		ENSG00000144381	ENSG00000144381		"Heat Shock Proteins / Chaperonins"	5261	protein-coding gene	gene with protein product		118190	"heat shock 60kD protein 1 (chaperonin)", "spastic paraplegia 13 (autosomal dominant)"	SPG13		1980192, 11898127	Standard	NM_002156		Approved	GROEL, HSP60	uc002uui.3	P10809	OTTHUMG00000154463	ENST00000388968.3:c.1233T>C	2.37:g.198353198A>G						HSPD1_ENST00000345042.2_Silent_p.D411D	p.D411D	NM_002156.4	NP_002147.2	P10809	CH60_HUMAN	Epithelial(96;0.225)		10	1500	-			411					B2R5M6|B7Z712|Q38L19|Q9UCR6	Silent	SNP	ENST00000388968.3	37	c.1233T>C	CCDS33357.1																																																																																				0.413	HSPD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335324.2	NM_002156		8	112	0	0	0	0.307466	0	8	112					G	198353198	A	G	198353198	2	3	101	1	0	0	0	0	0	0	0	1	7428	214	8	4		4	HSPD1	2	198353198	Silent	SNP	A	TCGA-EJ-7791-01A-11D-2114-08	177482692	198353198	44846175	5	5634											
SCN10A	6336	broad.mit.edu	37	chr3	38835295	38835295	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccgatcagttctgctgggagCtcaccatagaacttgggcag	9	9	12	11	1	3	1	2	0	1	1	3	3	3	2	2	2	3	4	2	2	2	3			TCGA-EJ-7791-01A-11D-2114-08	TCGA-EJ-7791-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d32f41fb-0744-4a62-81f6-0260c4920049	9ac76378-8ea0-4911-b4f2-043db4179a44	g.chr3:38835295C>T	ENST00000449082.2	-	1	206	c.207G>A	c.(205-207)gaG>gaA	p.E69E		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	69					AV node cell to bundle of His cell communication (GO:0086067)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of cardiac muscle contraction (GO:0055117)|regulation of heart rate (GO:0002027)|regulation of ion transmembrane transport (GO:0034765)|sensory perception (GO:0007600)|sensory perception of pain (GO:0019233)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	C-fiber (GO:0044299)|extracellular vesicular exosome (GO:0070062)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cinchocaine(DB00527)|Cocaine(DB00907)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Lacosamide(DB06218)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Orphenadrine(DB01173)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)|Valproic Acid(DB00313)	CTGCTGGGAGCTCACCATAGA	0.552																																						ENST00000449082.2																			0				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150						c.(205-207)gaG>gaA		sodium channel, voltage-gated, type X, alpha subunit	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)						138	144	142					3																	38835295		2203	4300	6503	SO:0001819	synonymous_variant	6336				sensory perception	voltage-gated sodium channel complex		g.chr3:38835295C>T	AF117907	CCDS33736.1	3p22.2	2012-02-26	2007-01-23		ENSG00000185313	ENSG00000185313		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10582	protein-coding gene	gene with protein product		604427	"sodium channel, voltage-gated, type X, alpha polypeptide"			9839820, 10198179, 16382098	Standard	NM_006514		Approved	Nav1.8, hPN3, SNS, PN3	uc003ciq.3	Q9Y5Y9	OTTHUMG00000048245	ENST00000449082.2:c.207G>A	3.37:g.38835295C>T							p.E69E	NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	1	206	-			69					A6NDQ1	Silent	SNP	ENST00000449082.2	37	c.207G>A	CCDS33736.1																																																																																				0.552	SCN10A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109745.3	NM_006514		19	177	0	0	0	0.539581	0	19	177					T	38835295	C	T	38835295	2	4	101	1	0	0	0	0	0	0	0	1	13912	796	28	3		3	SCN10A	3	38835295	Silent	SNP	C	TCGA-EJ-7791-01A-11D-2114-08		38835295	159187135	6	5635											
TBCCD1	55171	broad.mit.edu	37	chr3	186276229	186276229	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	attatgacaattagatttttCagtcaggtcaggagactgag	13	13	10	5	0	3	4	3	2	0	2	3	5	3	4	0	2	0	0	0	2	3	4			TCGA-EJ-7791-01A-11D-2114-08	TCGA-EJ-7791-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d32f41fb-0744-4a62-81f6-0260c4920049	9ac76378-8ea0-4911-b4f2-043db4179a44	g.chr3:186276229C>T	ENST00000424280.1	-	3	948	c.469G>A	c.(469-471)Gaa>Aaa	p.E157K	TBCCD1_ENST00000338733.5_Missense_Mutation_p.E157K|TBCCD1_ENST00000446782.1_Missense_Mutation_p.E61K	NM_001134415.1	NP_001127887.1	Q9NVR7	TBCC1_HUMAN	TBCC domain containing 1	157					cell morphogenesis (GO:0000902)|cytoskeleton organization (GO:0007010)|maintenance of centrosome location (GO:0051661)|maintenance of Golgi location (GO:0051684)|regulation of cell migration (GO:0030334)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)|spindle pole centrosome (GO:0031616)				breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)|skin(1)	17	all_cancers(143;3.75e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;4.3e-21)	GBM - Glioblastoma multiforme(93;0.0474)		TTAGATTTTTCAGTCAGGTCA	0.383																																						ENST00000424280.1																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)|skin(1)	17						c.(469-471)Gaa>Aaa		TBCC domain containing 1							138	140	139					3																	186276229		2203	4300	6503	SO:0001583	missense	55171				cell morphogenesis|maintenance of centrosome location|maintenance of Golgi location|regulation of cell migration|regulation of cell shape	spindle pole centrosome	binding	g.chr3:186276229C>T	BC025748	CCDS3276.1, CCDS75061.1	3q27.3	2006-03-09			ENSG00000113838	ENSG00000113838			25546	protein-coding gene	gene with protein product						12477932	Standard	NM_001134415		Approved	FLJ10560	uc003fqg.3	Q9NVR7	OTTHUMG00000156613	ENST00000424280.1:c.469G>A	3.37:g.186276229C>T	ENSP00000411253:p.Glu157Lys					TBCCD1_ENST00000446782.1_Missense_Mutation_p.E61K|TBCCD1_ENST00000338733.5_Missense_Mutation_p.E157K	p.E157K	NM_001134415.1	NP_001127887.1	Q9NVR7	TBCC1_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;4.3e-21)	GBM - Glioblastoma multiforme(93;0.0474)	3	948	-	all_cancers(143;3.75e-12)|Ovarian(172;0.0339)		157					B3KW69|D3DNU6|G5E9J4	Missense_Mutation	SNP	ENST00000424280.1	37	c.469G>A	CCDS3276.1	.	.	.	.	.	.	.	.	.	.	C	14.86	2.661971	0.47572	.	.	ENSG00000113838	ENST00000424280;ENST00000338733;ENST00000446782;ENST00000413695;ENST00000430560	T;T;T;T;T	0.72167	-0.63;-0.63;-0.63;-0.63;0.84	5.24	5.24	0.73138	.	0.118822	0.56097	D	0.000030	T	0.61185	0.2327	L	0.40543	1.245	0.38883	D	0.956953	B;B	0.25105	0.118;0.072	B;B	0.28709	0.093;0.023	T	0.57573	-0.7788	10	0.06891	T	0.86	-8.5914	16.6878	0.85314	0.0:1.0:0.0:0.0	.	61;157	G5E9J4;Q9NVR7	.;TBCC1_HUMAN	K	157;157;61;157;141	ENSP00000411253:E157K;ENSP00000341652:E157K;ENSP00000397091:E61K;ENSP00000391109:E157K;ENSP00000407506:E141K	ENSP00000341652:E157K	E	-	1	0	TBCCD1	187758923	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.991000	0.76232	2.607000	0.88179	0.655000	0.94253	GAA		0.383	TBCCD1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344774.1	NM_018138		13	140	0	0	0	0.500413	0	13	140					T	186276229	C	T	186276229	3	4	101	1	0	0	0	0	1	0	0	0	15629	835	29	3	1224	3	TBCCD1	3	186276229	Missense_Mutation	SNP	C	TCGA-EJ-7791-01A-11D-2114-08	147440934	186276229	11746201	7	5636											
AASDH	132949	broad.mit.edu	37	chr4	57244445	57244445	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agatccatgtgttcttctgcTttttcttcattgacatgctc	6	19	6	10	0	4	2	1	1	3	1	6	2	5	2	1	0	2	3	1	0	0	6			TCGA-EJ-7791-01A-11D-2114-08	TCGA-EJ-7791-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d32f41fb-0744-4a62-81f6-0260c4920049	9ac76378-8ea0-4911-b4f2-043db4179a44	g.chr4:57244445T>G	ENST00000205214.6	-	4	717	c.537A>C	c.(535-537)aaA>aaC	p.K179N	AASDH_ENST00000602986.1_Missense_Mutation_p.K26N|AASDH_ENST00000451613.1_Missense_Mutation_p.K179N|AASDH_ENST00000510762.1_5'UTR|AASDH_ENST00000502617.1_Missense_Mutation_p.K179N|AASDH_ENST00000434343.2_Intron|AASDH_ENST00000513376.1_Missense_Mutation_p.K79N	NM_181806.2	NP_861522.2	Q4L235	ACSF4_HUMAN	aminoadipate-semialdehyde dehydrogenase	179					fatty acid metabolic process (GO:0006631)		acid-thiol ligase activity (GO:0016878)|ATP binding (GO:0005524)			endometrium(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	40	Glioma(25;0.08)|all_neural(26;0.101)	all_hematologic(202;0.0017)				GTTCTTCTGCTTTTTCTTCAT	0.368																																						ENST00000205214.6																			0				endometrium(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	40						c.(535-537)aaA>aaC		aminoadipate-semialdehyde dehydrogenase							193	162	172					4																	57244445		2203	4300	6503	SO:0001583	missense	132949				fatty acid metabolic process		acid-thiol ligase activity|acyl carrier activity|ATP binding|cofactor binding	g.chr4:57244445T>G	AF516672	CCDS3504.1, CCDS68705.1, CCDS68706.1, CCDS75126.1, CCDS75127.1	4q12	2010-12-14			ENSG00000157426	ENSG00000157426	1.2.1.31	"Acyl-CoA synthetase family"	23993	protein-coding gene	gene with protein product	"acyl-CoA synthetase family member 4"	614365				15865210, 12712191, 17762044	Standard	XM_005265721		Approved	NRPS998, LYS2, ACSF4	uc003hbn.3	Q4L235	OTTHUMG00000128841	ENST00000205214.6:c.537A>C	4.37:g.57244445T>G	ENSP00000205214:p.Lys179Asn					AASDH_ENST00000451613.1_Missense_Mutation_p.K179N|AASDH_ENST00000502617.1_Missense_Mutation_p.K179N|AASDH_ENST00000602986.1_Missense_Mutation_p.K26N|AASDH_ENST00000510762.1_5'UTR|AASDH_ENST00000434343.2_Intron|AASDH_ENST00000513376.1_Missense_Mutation_p.K79N	p.K179N	NM_181806.2	NP_861522.2	Q4L235	ACSF4_HUMAN			4	717	-	Glioma(25;0.08)|all_neural(26;0.101)	all_hematologic(202;0.0017)	179					A5D8V3|A5PL22|Q63HK2|Q63HR7|Q6IPP8|Q6TFZ6|Q7Z5Y3|Q96BW4|Q9P064	Missense_Mutation	SNP	ENST00000205214.6	37	c.537A>C	CCDS3504.1	.	.	.	.	.	.	.	.	.	.	T	2.357	-0.347414	0.05208	.	.	ENSG00000157426	ENST00000205214;ENST00000513376;ENST00000451613;ENST00000503808;ENST00000502617	T;T;T;T	0.56776	0.78;0.97;0.44;0.78	4.83	-2.72	0.05968	AMP-dependent synthetase/ligase (1);	0.731969	0.13661	N	0.371593	T	0.32615	0.0835	L	0.40543	1.245	0.09310	N	1	B;B;B;B	0.09022	0.002;0.001;0.001;0.001	B;B;B;B	0.08055	0.003;0.002;0.001;0.003	T	0.21690	-1.0238	10	0.48119	T	0.1	-3.014	0.2503	0.00204	0.2444:0.2403:0.2663:0.249	.	26;179;179;179	E9PH98;Q4L235-4;Q4L235-3;Q4L235	.;.;.;ACSF4_HUMAN	N	179;79;179;26;179	ENSP00000205214:K179N;ENSP00000423760:K79N;ENSP00000409656:K179N;ENSP00000421171:K179N	ENSP00000205214:K179N	K	-	3	2	AASDH	56939202	0.000000	0.05858	0.007000	0.13788	0.205000	0.24178	-0.720000	0.04969	-0.322000	0.08615	0.533000	0.62120	AAA		0.368	AASDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250780.1	NM_181806		4	58	0	0	0	0.150653	0	4	58					G	57244445	T	G	57244445	3	3	101	1	0	0	0	0	1	0	0	0	22	1606	56	5	2807	5	AASDH	4	57244445	Missense_Mutation	SNP	T	TCGA-EJ-7791-01A-11D-2114-08		57244445	133909831	8	5637											
NPY2R	4887	broad.mit.edu	37	chr4	156136067	156136067	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttgccaatccccttctctatGgctggatgaacagcaactac	10	11	7	13	0	1	1	0	1	1	0	3	2	2	2	3	2	5	2	3	2	5	4			TCGA-EJ-7791-01A-11D-2114-08	TCGA-EJ-7791-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d32f41fb-0744-4a62-81f6-0260c4920049	9ac76378-8ea0-4911-b4f2-043db4179a44	g.chr4:156136067G>T	ENST00000329476.3	+	2	1465	c.976G>T	c.(976-978)Ggc>Tgc	p.G326C	NPY2R_ENST00000506608.1_Missense_Mutation_p.G326C	NM_000910.2	NP_000901.1	P49146	NPY2R_HUMAN	neuropeptide Y receptor Y2	326					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|behavioral fear response (GO:0001662)|cardiac left ventricle morphogenesis (GO:0003214)|locomotory behavior (GO:0007626)|negative regulation of cAMP biosynthetic process (GO:0030818)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of feeding behavior (GO:2000252)|negative regulation of neurological system process (GO:0031645)|negative regulation of secretion (GO:0051048)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|neuropeptide signaling pathway (GO:0007218)|nitric oxide mediated signal transduction (GO:0007263)|outflow tract morphogenesis (GO:0003151)|positive regulation of cell adhesion (GO:0045785)|positive regulation of circadian sleep/wake cycle, non-REM sleep (GO:0046010)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of dopamine secretion (GO:0033603)|positive regulation of peptide secretion (GO:0002793)|positive regulation of smooth muscle contraction (GO:0045987)|regulation of sensory perception of pain (GO:0051930)|secretion (GO:0046903)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel regulator activity (GO:0005246)|neuropeptide Y receptor activity (GO:0004983)|peptide YY receptor activity (GO:0001601)|receptor activity (GO:0004872)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(17)|prostate(1)|skin(5)|urinary_tract(1)	36	all_hematologic(180;0.24)	Renal(120;0.0854)			Cysteamine(DB00847)	CCTTCTCTATGGCTGGATGAA	0.522																																						ENST00000329476.3																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(17)|prostate(1)|skin(5)|urinary_tract(1)	36						c.(976-978)Ggc>Tgc		neuropeptide Y receptor Y2							112	96	101					4																	156136067		2203	4300	6503	SO:0001583	missense	4887				cardiac left ventricle morphogenesis|inhibition of adenylate cyclase activity by G-protein signaling pathway|locomotory behavior|outflow tract morphogenesis	integral to plasma membrane	calcium channel regulator activity	g.chr4:156136067G>T	U42766	CCDS3791.1	4q31	2012-08-08				ENSG00000185149		"GPCR / Class A : Neuropeptide receptors : Y"	7957	protein-coding gene	gene with protein product		162642				7559383	Standard	NM_000910		Approved		uc003ioq.3	P49146		ENST00000329476.3:c.976G>T	4.37:g.156136067G>T	ENSP00000332591:p.Gly326Cys					NPY2R_ENST00000506608.1_Missense_Mutation_p.G326C	p.G326C	NM_000910.2	NP_000901.1	P49146	NPY2R_HUMAN			2	1465	+	all_hematologic(180;0.24)	Renal(120;0.0854)	326					Q13281|Q13457|Q4W5G7|Q6AZZ6|Q9UE67	Missense_Mutation	SNP	ENST00000329476.3	37	c.976G>T	CCDS3791.1	.	.	.	.	.	.	.	.	.	.	G	23.4	4.411227	0.83340	.	.	ENSG00000185149	ENST00000329476;ENST00000506608	T;T	0.55052	0.54;0.54	5.74	5.74	0.90152	.	0.000000	0.85682	D	0.000000	T	0.71134	0.3304	L	0.61218	1.895	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.68078	-0.5504	10	0.40728	T	0.16	.	18.9076	0.92469	0.0:0.0:1.0:0.0	.	326	P49146	NPY2R_HUMAN	C	326	ENSP00000332591:G326C;ENSP00000426366:G326C	ENSP00000332591:G326C	G	+	1	0	NPY2R	156355517	1.000000	0.71417	0.996000	0.52242	0.991000	0.79684	9.869000	0.99810	2.711000	0.92665	0.643000	0.83706	GGC		0.522	NPY2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365128.1	NM_000910		13	111	1	0	2.27111e-07	0.411799	2.76792e-07	13	111					T	156136067	G	T	156136067	3	4	101	1	0	0	0	0	1	0	0	0	10609	1348	47	5	978	5	NPY2R	4	156136067	Missense_Mutation	SNP	G	TCGA-EJ-7791-01A-11D-2114-08	98891622	156136067	35018209	9	5638											
HCRTR2	3062	broad.mit.edu	37	chr6	55128601	55128601	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggcttatctgcaaatatttcGcaaactctggtgtcgacagg	10	12	10	9	2	2	0	0	0	2	0	4	1	2	0	0	3	2	3	0	3	4	3	rs199660644		TCGA-EJ-7791-01A-11D-2114-08	TCGA-EJ-7791-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d32f41fb-0744-4a62-81f6-0260c4920049	9ac76378-8ea0-4911-b4f2-043db4179a44	g.chr6:55128601G>A	ENST00000370862.3	+	4	1079	c.743G>A	c.(742-744)cGc>cAc	p.R248H		NM_001526.3	NP_001517.2	O43614	OX2R_HUMAN	hypocretin (orexin) receptor 2	248					circadian sleep/wake cycle process (GO:0022410)|feeding behavior (GO:0007631)|neuropeptide signaling pathway (GO:0007218)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neuropeptide receptor activity (GO:0008188)|orexin receptor activity (GO:0016499)			breast(3)|endometrium(2)|kidney(1)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	46	Lung NSC(77;0.107)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			CAAATATTTCGCAAACTCTGG	0.368													G|||	1	0.000199681	0	0	5008	,	,		17176	0		0	False		,,,				2504	0.001					ENST00000370862.3																			0				breast(3)|endometrium(2)|kidney(1)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	46						c.(742-744)cGc>cAc		hypocretin (orexin) receptor 2							131	108	116					6																	55128601		2203	4300	6503	SO:0001583	missense	3062				feeding behavior	integral to plasma membrane	neuropeptide receptor activity	g.chr6:55128601G>A	AF041245	CCDS4956.1	6p12.1	2012-09-20			ENSG00000137252	ENSG00000137252		"GPCR / Class A : Hypocretin (orexin) receptors"	4849	protein-coding gene	gene with protein product		602393				9491897	Standard	NM_001526		Approved	OX2R	uc003pcl.3	O43614	OTTHUMG00000016150	ENST00000370862.3:c.743G>A	6.37:g.55128601G>A	ENSP00000359899:p.Arg248His						p.R248H	NM_001526.3	NP_001517.2	O43614	OX2R_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.23)		4	1079	+	Lung NSC(77;0.107)|Renal(3;0.122)		248					Q5VTM0	Missense_Mutation	SNP	ENST00000370862.3	37	c.743G>A	CCDS4956.1	.	.	.	.	.	.	.	.	.	.	G	14.68	2.608750	0.46527	.	.	ENSG00000137252	ENST00000370862	T	0.39592	1.07	5.75	5.75	0.90469	GPCR, rhodopsin-like superfamily (1);	0.050304	0.85682	D	0.000000	T	0.26593	0.0650	M	0.64080	1.96	0.44012	D	0.996729	B;B	0.31054	0.306;0.172	B;B	0.33196	0.12;0.159	T	0.05338	-1.0891	10	0.15499	T	0.54	.	14.1313	0.65255	0.0716:0.0:0.9284:0.0	.	248;248	Q548Y0;O43614	.;OX2R_HUMAN	H	248	ENSP00000359899:R248H	ENSP00000359899:R248H	R	+	2	0	HCRTR2	55236560	1.000000	0.71417	0.999000	0.59377	0.924000	0.55760	4.009000	0.57110	2.721000	0.93114	0.603000	0.83216	CGC		0.368	HCRTR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043392.1			3	27	0	0	0	0.115264	0	3	27					A	55128601	G	A	55128601	3	1	101	1	0	0	0	0	1	0	0	0	7002	1087	38	1	757	1	HCRTR2	6	55128601	Missense_Mutation	SNP	G	TCGA-EJ-7791-01A-11D-2114-08		55128601	115986466	10	5639											
CREB5	9586	broad.mit.edu	37	chr7	28527795	28527795	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttccctctgatccttcagatTtatgaggaatccaagatgaa	12	13	7	9	0	2	5	1	3	1	2	5	6	5	6	3	1	0	0	3	1	4	4			TCGA-EJ-7791-01A-11D-2114-08	TCGA-EJ-7791-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d32f41fb-0744-4a62-81f6-0260c4920049	9ac76378-8ea0-4911-b4f2-043db4179a44	g.chr7:28527795T>C	ENST00000357727.2	+	2	396	c.6T>C	c.(4-6)atT>atC	p.I2I	CREB5_ENST00000396300.2_5'UTR|CREB5_ENST00000396299.2_Intron|CREB5_ENST00000409603.1_5'Flank	NM_182898.2	NP_878901.2	Q02930	CREB5_HUMAN	cAMP responsive element binding protein 5	2					adipose tissue development (GO:0060612)|fat cell differentiation (GO:0045444)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(13)|prostate(1)|skin(3)	32						TCCTTCAGATTTATGAGGAAT	0.507																																						ENST00000357727.2																			0				breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(13)|prostate(1)|skin(3)	32						c.(4-6)atT>atC		cAMP responsive element binding protein 5							99	102	101					7																	28527795		2203	4300	6503	SO:0001819	synonymous_variant	9586				positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter		protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr7:28527795T>C	L05515	CCDS5417.1, CCDS5418.1, CCDS43562.1, CCDS43563.1	7p15	2013-01-10			ENSG00000146592	ENSG00000146592		"basic leucine zipper proteins"	16844	protein-coding gene	gene with protein product	"cAMP response element binding protein CRE-Bpa"					8378084, 8440710	Standard	XM_005249906		Approved	H_GS165L15.1, CRE-BPA	uc003szr.3	Q02930	OTTHUMG00000097081	ENST00000357727.2:c.6T>C	7.37:g.28527795T>C						CREB5_ENST00000396299.2_Intron|CREB5_ENST00000396300.2_5'UTR	p.I2I	NM_182898.2	NP_878901.2	Q02930	CREB5_HUMAN			2	396	+			2					A8KA51|B4DU13|B5BUH3|C9JK47|Q05886|Q06246|Q75N02|Q86UJ9	Silent	SNP	ENST00000357727.2	37	c.6T>C	CCDS5417.1																																																																																				0.507	CREB5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214204.4	NM_004904		4	94	0	0	0	0.184627	0	4	94					C	28527795	T	C	28527795	2	2	101	1	0	0	0	0	0	0	0	1	3860	1829	64	4		4	CREB5	7	28527795	Silent	SNP	T	TCGA-EJ-7791-01A-11D-2114-08		28527795	130610868	11	5640											
CLCN1	1180	broad.mit.edu	37	chr7	143013473	143013473	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gcaggcccccgccacaacgtCcaccccacacaggtaaagtg	11	3	9	18	2	0	0	0	0	0	0	1	0	1	0	6	2	1	2	6	2	3	1			TCGA-EJ-7791-01A-11D-2114-08	TCGA-EJ-7791-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d32f41fb-0744-4a62-81f6-0260c4920049	9ac76378-8ea0-4911-b4f2-043db4179a44	g.chr7:143013473C>A	ENST00000343257.2	+	1	255	c.168C>A	c.(166-168)gtC>gtA	p.V56V		NM_000083.2	NP_000074	P35523	CLCN1_HUMAN	chloride channel, voltage-sensitive 1	56					chloride transmembrane transport (GO:1902476)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|neuronal action potential propagation (GO:0019227)|regulation of anion transport (GO:0044070)|transmembrane transport (GO:0055085)|transport (GO:0006810)	chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)	adenyl nucleotide binding (GO:0030554)|chloride channel activity (GO:0005254)|voltage-gated chloride channel activity (GO:0005247)			breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	58	Melanoma(164;0.205)					GCCACAACGTCCACCCCACAC	0.577																																						ENST00000343257.2																			0				breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	58						c.(166-168)gtC>gtA		chloride channel, voltage-sensitive 1							59	60	60					7																	143013473		2194	4288	6482	SO:0001819	synonymous_variant	1180				muscle contraction	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity	g.chr7:143013473C>A	Z25884	CCDS5881.1	7q12	2012-09-26	2012-02-23		ENSG00000188037	ENSG00000188037		"Ion channels / Chloride channels : Voltage-sensitive"	2019	protein-coding gene	gene with protein product	"Thomsen disease, autosomal dominant"	118425	"chloride channel 1, skeletal muscle"			1379744	Standard	NM_000083		Approved	CLC1, ClC-1	uc003wcr.1	P35523	OTTHUMG00000152695	ENST00000343257.2:c.168C>A	7.37:g.143013473C>A							p.V56V	NM_000083.2	NP_000074.2	P35523	CLCN1_HUMAN			1	255	+	Melanoma(164;0.205)		56					A4D2H5|Q2M202	Silent	SNP	ENST00000343257.2	37	c.168C>A	CCDS5881.1																																																																																				0.577	CLCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327420.1	NM_000083		5	65	1	0	0.00448238	0.307466	0.00499465	5	65					A	143013473	C	A	143013473	2	1	101	1	0	0	0	0	0	0	0	1	3462	842	30	5		5	CLCN1	7	143013473	Silent	SNP	C	TCGA-EJ-7791-01A-11D-2114-08	114485678	143013473	16125190	12	5641											
UBR5	51366	broad.mit.edu	37	chr8	103298847	103298847	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gcaggaacactgcttgctccTaaaatttttatttttaaaac	13	15	5	8	0	0	0	0	0	0	0	1	1	1	1	1	1	4	3	1	1	6	8			TCGA-EJ-7791-01A-11D-2114-08	TCGA-EJ-7791-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d32f41fb-0744-4a62-81f6-0260c4920049	9ac76378-8ea0-4911-b4f2-043db4179a44	g.chr8:103298847T>C	ENST00000520539.1	-	38	5564		c.e38-2		UBR5_ENST00000220959.4_Splice_Site|UBR5_ENST00000521922.1_Splice_Site|UBR5_ENST00000519528.1_5'Flank	NM_001282873.1|NM_015902.5	NP_001269802.1|NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5						cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|negative regulation of double-strand break repair (GO:2000780)|negative regulation of histone H2A K63-linked ubiquitination (GO:1901315)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of protein import into nucleus, translocation (GO:0033160)|progesterone receptor signaling pathway (GO:0050847)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|RNA binding (GO:0003723)|ubiquitin-protein transferase activity (GO:0004842)|ubiquitin-ubiquitin ligase activity (GO:0034450)|zinc ion binding (GO:0008270)			NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			TGCTTGCTCCTAAAATTTTTA	0.333																																					Ovarian(131;96 1741 5634 7352 27489)	ENST00000520539.1																			0				NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124						c.e38-2		ubiquitin protein ligase E3 component n-recognin 5							34	33	33					8																	103298847		2203	4300	6503	SO:0001630	splice_region_variant	51366				cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding	g.chr8:103298847T>C	AF006010	CCDS34933.1, CCDS64946.1	8q22	2008-06-23	2007-06-19	2007-06-19	ENSG00000104517	ENSG00000104517		"Ubiquitin protein ligase E3 component n-recognins"	16806	protein-coding gene	gene with protein product		608413	"E3 ubiquitin protein ligase, HECT domain containing, 1"	EDD1		10030672, 16055722	Standard	NM_015902		Approved	DD5, HYD, EDD, KIAA0896	uc003ykr.2	O95071	OTTHUMG00000164755	ENST00000520539.1:c.4958-2A>G	8.37:g.103298847T>C						UBR5_ENST00000220959.4_Splice_Site|UBR5_ENST00000521922.1_Splice_Site		NM_015902.5	NP_056986.2	O95071	UBR5_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.000442)		38	5564	-	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)							B2RP24|J3KMW7|O94970|Q9NPL3	Splice_Site	SNP	ENST00000520539.1	37		CCDS34933.1	.	.	.	.	.	.	.	.	.	.	T	23.5	4.421517	0.83559	.	.	ENSG00000104517	ENST00000520539;ENST00000220959;ENST00000521922	.	.	.	5.74	5.74	0.90152	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.021	0.80493	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	UBR5	103368023	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.918000	0.87506	2.186000	0.69663	0.533000	0.62120	.		0.333	UBR5-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000380075.2	NM_015902	Intron	2	14	0	0	0	0.115264	0	2	14					C	103298847	T	C	103298847	5	2	101	1	0	0	0	0	0	0	1	0	16902	1536	53	4	3531	4	UBR5	8	103298847	Splice_Site	SNP	T	TCGA-EJ-7791-01A-11D-2114-08		103298847	43065175	13	5642											
DDX31	64794	broad.mit.edu	37	chr9	135537842	135537842	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atacctgtggagttctggaaTgtcagggttgtttttaaaca	10	15	11	5	0	2	0	1	0	1	0	2	2	2	2	1	3	2	3	1	3	4	6			TCGA-EJ-7791-01A-11D-2114-08	TCGA-EJ-7791-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d32f41fb-0744-4a62-81f6-0260c4920049	9ac76378-8ea0-4911-b4f2-043db4179a44	g.chr9:135537842T>C	ENST00000372159.3	-	2	782	c.631A>G	c.(631-633)Att>Gtt	p.I211V	DDX31_ENST00000372153.1_Missense_Mutation_p.I211V|DDX31_ENST00000438527.3_Missense_Mutation_p.I82V|DDX31_ENST00000544003.1_Missense_Mutation_p.I115V|DDX31_ENST00000480876.1_5'UTR|DDX31_ENST00000310532.2_Missense_Mutation_p.I211V	NM_022779.7	NP_073616.6	Q9H8H2	DDX31_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 31	211						nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(1)	27				OV - Ovarian serous cystadenocarcinoma(145;2.67e-06)|Epithelial(140;7.61e-05)		AGTTCTGGAATGTCAGGGTTG	0.428																																						ENST00000372159.3																			0				breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(1)	27						c.(631-633)Att>Gtt		DEAD (Asp-Glu-Ala-Asp) box polypeptide 31							156	150	152					9																	135537842		2203	4300	6503	SO:0001583	missense	64794					nucleolus	ATP binding|ATP-dependent helicase activity|RNA binding	g.chr9:135537842T>C	AF427339	CCDS6951.1, CCDS6952.1	9q34.2	2012-04-17	2003-06-13		ENSG00000125485	ENSG00000125485		"DEAD-boxes", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	16715	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 25"		"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 31"				Standard	NM_022779		Approved	FLJ13633, FLJ23349, FLJ14578, PPP1R25	uc004cbq.1	Q9H8H2	OTTHUMG00000020843	ENST00000372159.3:c.631A>G	9.37:g.135537842T>C	ENSP00000361232:p.Ile211Val					DDX31_ENST00000480876.1_5'UTR|DDX31_ENST00000544003.1_Missense_Mutation_p.I115V|DDX31_ENST00000438527.3_Missense_Mutation_p.I82V|DDX31_ENST00000372153.1_Missense_Mutation_p.I211V|DDX31_ENST00000310532.2_Missense_Mutation_p.I211V	p.I211V	NM_022779.7	NP_073616.6	Q9H8H2	DDX31_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;2.67e-06)|Epithelial(140;7.61e-05)	2	782	-			211					Q5K6N2|Q5K6N3|Q5K6N4|Q5VZJ4|Q5VZJ9|Q96E91|Q96NY2|Q96SX5|Q9H5K6	Missense_Mutation	SNP	ENST00000372159.3	37	c.631A>G	CCDS6951.1	.	.	.	.	.	.	.	.	.	.	T	13.64	2.297336	0.40694	.	.	ENSG00000125485	ENST00000372159;ENST00000372155;ENST00000372153;ENST00000438527;ENST00000310532;ENST00000544003	T;T;T;T;T	0.57752	4.38;3.94;4.39;3.51;0.38	5.6	4.47	0.54385	.	0.050373	0.85682	N	0.000000	T	0.44561	0.1299	L	0.41573	1.285	0.44798	D	0.997806	P;P;P	0.49559	0.453;0.596;0.925	B;P;B	0.45856	0.159;0.495;0.395	T	0.24905	-1.0147	10	0.29301	T	0.29	-18.4017	8.3023	0.32021	0.0:0.1517:0.0:0.8483	.	211;211;211	Q9H8H2-2;Q9H8H2-3;Q9H8H2	.;.;DDX31_HUMAN	V	211;211;211;82;211;115	ENSP00000361232:I211V;ENSP00000361226:I211V;ENSP00000387730:I82V;ENSP00000310539:I211V;ENSP00000442425:I115V	ENSP00000310539:I211V	I	-	1	0	DDX31	134527663	1.000000	0.71417	0.718000	0.30602	0.960000	0.62799	3.815000	0.55651	0.951000	0.37770	-0.264000	0.10439	ATT		0.428	DDX31-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000054794.1	NM_138620		14	73	0	0	0	0.479597	0	14	73					C	135537842	T	C	135537842	3	2	101	1	0	0	0	0	1	0	0	0	4356	1464	51	4	2007	4	DDX31	9	135537842	Missense_Mutation	SNP	T	TCGA-EJ-7791-01A-11D-2114-08		135537842	5675589	14	5643											
PTEN	5728	broad.mit.edu	37	chr10	89720811	89720812	+	Frame_Shift_Ins	INS	-	-	A																															tatctagtacttactttaacINSaaaaaatgatcttgacaaag																								rs587783058|rs121913291		TCGA-EJ-7791-01A-11D-2114-08	TCGA-EJ-7791-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d32f41fb-0744-4a62-81f6-0260c4920049	9ac76378-8ea0-4911-b4f2-043db4179a44	g.chr10:89720811_89720812insA	ENST00000371953.3	+	8	2319_2320	c.962_963insA	c.(961-966)acaaaafs	p.TK321fs	PTEN_ENST00000472832.1_3'UTR	NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	321	C2 tensin-type. {ECO:0000255|PROSITE- ProRule:PRU00589}.				activation of mitotic anaphase-promoting complex activity (GO:0007092)|aging (GO:0007568)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|brain morphogenesis (GO:0048854)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle tissue development (GO:0048738)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|central nervous system myelin maintenance (GO:0032286)|central nervous system neuron axonogenesis (GO:0021955)|dendritic spine morphogenesis (GO:0060997)|dentate gyrus development (GO:0021542)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|innate immune response (GO:0045087)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|learning or memory (GO:0007611)|locomotor rhythm (GO:0045475)|locomotory behavior (GO:0007626)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|male mating behavior (GO:0060179)|maternal behavior (GO:0042711)|memory (GO:0007613)|multicellular organismal response to stress (GO:0033555)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell aging (GO:0090344)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031658)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myelination (GO:0031642)|negative regulation of organ growth (GO:0046621)|negative regulation of phagocytosis (GO:0050765)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of ribosome biogenesis (GO:0090071)|negative regulation of synaptic vesicle clustering (GO:2000808)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell proliferation (GO:0008284)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|postsynaptic density assembly (GO:0097107)|prepulse inhibition (GO:0060134)|presynaptic membrane assembly (GO:0097105)|prostate gland growth (GO:0060736)|protein dephosphorylation (GO:0006470)|protein kinase B signaling (GO:0043491)|protein stabilization (GO:0050821)|regulation of B cell apoptotic process (GO:0002902)|regulation of cellular component size (GO:0032535)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of neuron projection development (GO:0010975)|regulation of protein stability (GO:0031647)|response to arsenic-containing substance (GO:0046685)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse maturation (GO:0060074)|T cell receptor signaling pathway (GO:0050852)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|myelin sheath adaxonal region (GO:0035749)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)	anaphase-promoting complex binding (GO:0010997)|enzyme binding (GO:0019899)|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity (GO:0051717)|lipid binding (GO:0008289)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity (GO:0051800)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.0?(37)|p.T321fs*23(9)|p.T321fs*3(7)|p.R55fs*1(5)|p.?(2)|p.N212fs*1(2)|p.Y27fs*1(2)|p.N323fs*2(2)|p.T319_K332del(1)|p.T321fs*22(1)|p.G165_*404del(1)|p.L316fs*1(1)|p.W274_F341del(1)|p.V317_K322del(1)|p.T321fs*6(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		CTTACTTTAACAAAAAATGATC	0.327	N323fs*2(MFE319_ENDOMETRIUM)|N323fs*2(RL952_ENDOMETRIUM)|N323fs*2(SKUT1_SOFT_TISSUE)	31	"D, Mis, N, F, S"		"glioma,  prostate, endometrial"	"harmartoma, glioma,  prostate, endometrial"			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																												ENST00000371953.3	N323fs*2(MFE319_ENDOMETRIUM)|N323fs*2(RL952_ENDOMETRIUM)|N323fs*2(SKUT1_SOFT_TISSUE)	31	yes	Rec	yes	"Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"	10	10q23.3	5728	"D, Mis, N, F, S"	phosphatase and tensin homolog gene			"L, E, M, O"		"harmartoma, glioma,  prostate, endometrial"	"glioma,  prostate, endometrial"		73	Whole gene deletion(37)|Deletion - Frameshift(20)|Insertion - Frameshift(10)|Deletion - In frame(4)|Unknown(2)	p.0?(37)|p.T321fs*23(9)|p.T321fs*3(7)|p.R55fs*1(5)|p.?(2)|p.N212fs*1(2)|p.Y27fs*1(2)|p.N323fs*2(2)|p.T319_K332del(1)|p.T321fs*22(1)|p.G165_*404del(1)|p.L316fs*1(1)|p.W274_F341del(1)|p.V317_K322del(1)|p.T321fs*6(1)	endometrium(18)|prostate(16)|central_nervous_system(12)|skin(7)|lung(4)|ovary(4)|haematopoietic_and_lymphoid_tissue(3)|breast(3)|urinary_tract(2)|large_intestine(1)|stomach(1)|soft_tissue(1)|pancreas(1)	NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771						c.(961-963)aaafs		phosphatase and tensin homolog																																				SO:0001589	frameshift_variant	5728	Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	Familial Cancer Database	Incl.: Encephalocraniocutaneous Lipomatosis, ECCL, Proteus-like s.;incl.: Juvenile Polyposis of the Stomach;HMPS1, Colorectal Adenoma Carcinoma syndrome, CRAC, CRAC1;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;subset of PTEN-Hamartoma Tumor Syndrome; incl.: Ruvalcaba-Myhre-Smith s.	activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr10:89720811_89720812insA	U92436	CCDS31238.1	10q23	2014-09-17	2008-07-31		ENSG00000171862	ENSG00000171862		"Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"	9588	protein-coding gene	gene with protein product	"mutated in multiple advanced cancers 1"	601728		BZS, MHAM		9090379	Standard	NM_000314		Approved	MMAC1, TEP1, PTEN1	uc001kfb.3	P60484	OTTHUMG00000018688	ENST00000371953.3:c.968dupA	10.37:g.89720817_89720817dupA	ENSP00000361021:p.Thr321fs	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)				PTEN_ENST00000472832.1_3'UTR	p.K321fs	NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)	8	2319_2320	+		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	321			C2 tensin-type.		B2R904|F2YHV0|O00633|O02679|Q6ICT7	Frame_Shift_Ins	INS	ENST00000371953.3	37	c.962_963insA	CCDS31238.1																																																																																				0.327	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1	NM_000314		15	108						15	108	---	---	---	---	A	89720812	-	A	89720811	7	5	101	1	0	1	1	0	0	0	0	0	12738	478	17	0	992	0	PTEN	10	89720811	Frame_Shift_Ins	INS	-	TCGA-EJ-7791-01A-11D-2114-08		89720811	45813936	15	5644											
NAALAD2	10003	broad.mit.edu	37	chr11	89880613	89880613	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cagccaagttggttcattatGatgtcctcttatcttacccc	8	15	6	12	0	3	1	1	1	2	0	4	1	4	1	4	1	2	2	4	1	4	5			TCGA-EJ-7791-01A-11D-2114-08	TCGA-EJ-7791-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d32f41fb-0744-4a62-81f6-0260c4920049	9ac76378-8ea0-4911-b4f2-043db4179a44	g.chr11:89880613G>A	ENST00000534061.1	+	3	540	c.310G>A	c.(310-312)Gat>Aat	p.D104N	NAALAD2_ENST00000321955.4_Missense_Mutation_p.D104N|NAALAD2_ENST00000375944.3_Missense_Mutation_p.D104N|NAALAD2_ENST00000525171.1_Missense_Mutation_p.D104N	NM_005467.3	NP_005458.1	Q9Y3Q0	NALD2_HUMAN	N-acetylated alpha-linked acidic dipeptidase 2	104					neurotransmitter catabolic process (GO:0042135)|proteolysis (GO:0006508)	integral component of membrane (GO:0016021)	carboxypeptidase activity (GO:0004180)|dipeptidase activity (GO:0016805)|dipeptidyl-peptidase activity (GO:0008239)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|N-formylglutamate deformylase activity (GO:0050129)|serine-type peptidase activity (GO:0008236)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(32)|pancreas(1)|prostate(3)|skin(5)|stomach(2)	59		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)				GGTTCATTATGATGTCCTCTT	0.373																																						ENST00000534061.1																			0				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(32)|pancreas(1)|prostate(3)|skin(5)|stomach(2)	59						c.(310-312)Gat>Aat		N-acetylated alpha-linked acidic dipeptidase 2							103	98	99					11																	89880613		2201	4299	6500	SO:0001583	missense	10003				proteolysis	integral to membrane	carboxypeptidase activity|dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity|serine-type peptidase activity	g.chr11:89880613G>A	AJ012370	CCDS8288.1, CCDS73364.1	11q14.3-q21	2011-08-16			ENSG00000077616	ENSG00000077616	3.4.17.21		14526	protein-coding gene	gene with protein product	"glutamate carboxypeptidase III"	611636				10085079	Standard	NM_005467		Approved	NAALADASE2, NAADALASE2, GPCIII	uc001pdf.4	Q9Y3Q0	OTTHUMG00000166368	ENST00000534061.1:c.310G>A	11.37:g.89880613G>A	ENSP00000432481:p.Asp104Asn					NAALAD2_ENST00000321955.4_Missense_Mutation_p.D104N|NAALAD2_ENST00000375944.3_Missense_Mutation_p.D104N|NAALAD2_ENST00000525171.1_Missense_Mutation_p.D104N	p.D104N	NM_005467.3	NP_005458.1	Q9Y3Q0	NALD2_HUMAN			3	540	+		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)	104					B3KQR4|Q4KKV4|Q4VAM9	Missense_Mutation	SNP	ENST00000534061.1	37	c.310G>A	CCDS8288.1	.	.	.	.	.	.	.	.	.	.	G	16.64	3.180751	0.57800	.	.	ENSG00000077616	ENST00000534061;ENST00000321955;ENST00000525171;ENST00000375944;ENST00000526637	T;T;T;T;T	0.48836	1.22;1.35;0.8;2.23;2.23	4.94	4.94	0.65067	.	0.000000	0.64402	D	0.000001	T	0.65831	0.2729	L	0.57536	1.79	0.58432	D	0.999994	P;P;P;D;P	0.76494	0.785;0.464;0.59;0.999;0.945	B;B;B;D;B	0.78314	0.247;0.15;0.248;0.991;0.446	T	0.64508	-0.6391	9	.	.	.	-26.1925	18.5843	0.91182	0.0:0.0:1.0:0.0	.	104;104;104;104;104	Q4KKV4;E9PJV2;Q9Y3Q0;E9PKX5;Q8IUX3	.;.;NALD2_HUMAN;.;.	N	104;104;104;104;50	ENSP00000432481:D104N;ENSP00000320083:D104N;ENSP00000435249:D104N;ENSP00000365111:D104N;ENSP00000435670:D50N	.	D	+	1	0	NAALAD2	89520261	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.154000	0.71826	2.442000	0.82660	0.644000	0.83932	GAT		0.373	NAALAD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389424.2	NM_005467		4	60	0	0	0	0.184627	0	4	60					A	89880613	G	A	89880613	3	1	101	1	0	0	0	0	1	0	0	0	10128	1290	45	3	320	3	NAALAD2	11	89880613	Missense_Mutation	SNP	G	TCGA-EJ-7791-01A-11D-2114-08		89880613	45125903	16	5645											
CD163	9332	broad.mit.edu	37	chr12	7640092	7640092	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tctgaccatttccttttccaAaacgtgctcctcctggggta	7	14	7	13	1	1	1	0	1	1	0	5	1	5	1	5	2	2	2	5	2	3	4			TCGA-EJ-7791-01A-11D-2114-08	TCGA-EJ-7791-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d32f41fb-0744-4a62-81f6-0260c4920049	9ac76378-8ea0-4911-b4f2-043db4179a44	g.chr12:7640092A>C	ENST00000359156.4	-	8	2115	c.1913T>G	c.(1912-1914)tTt>tGt	p.F638C	CD163_ENST00000541972.1_Missense_Mutation_p.F626C|CD163_ENST00000396620.3_Missense_Mutation_p.F671C|CD163_ENST00000432237.2_Missense_Mutation_p.F638C|CD163_ENST00000539632.1_5'Flank	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN	CD163 molecule	638	SRCR 6. {ECO:0000255|PROSITE- ProRule:PRU00196}.				acute-phase response (GO:0006953)|receptor-mediated endocytosis (GO:0006898)	endocytic vesicle membrane (GO:0030666)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76					WF10(DB05389)	TCCTTTTCCAAAACGTGCTCC	0.488																																						ENST00000359156.4																			0				breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76						c.(1912-1914)tTt>tGt		CD163 molecule							153	140	144					12																	7640092		2203	4300	6503	SO:0001583	missense	9332				acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity	g.chr12:7640092A>C	Z22968	CCDS8578.1, CCDS53742.1	12p13	2006-03-28	2006-03-28		ENSG00000177575	ENSG00000177575		"CD molecules"	1631	protein-coding gene	gene with protein product		605545	"CD163 antigen"			10403791, 8370408	Standard	NM_004244		Approved	M130, MM130	uc001qsz.3	Q86VB7	OTTHUMG00000168353	ENST00000359156.4:c.1913T>G	12.37:g.7640092A>C	ENSP00000352071:p.Phe638Cys					CD163_ENST00000541972.1_Missense_Mutation_p.F626C|CD163_ENST00000396620.3_Missense_Mutation_p.F671C|CD163_ENST00000432237.2_Missense_Mutation_p.F638C	p.F638C	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN			8	2115	-			638			SRCR 6.		C9JIG2|Q07898|Q07899|Q07900|Q07901|Q2VLH7	Missense_Mutation	SNP	ENST00000359156.4	37	c.1913T>G	CCDS8578.1	.	.	.	.	.	.	.	.	.	.	A	12.96	2.094634	0.36952	.	.	ENSG00000177575	ENST00000359156;ENST00000541972;ENST00000396620;ENST00000432237	T;T;T;T	0.33438	1.41;1.41;1.41;1.41	5.14	5.14	0.70334	Speract/scavenger receptor (2);Speract/scavenger receptor-related (2);	0.070349	0.64402	D	0.000011	T	0.64692	0.2621	H	0.95982	3.75	0.40038	D	0.97561	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.79108	0.992;0.988;0.992	T	0.74359	-0.3691	10	0.87932	D	0	.	8.669	0.34138	0.8299:0.0:0.0:0.1701	.	671;638;638	C9JHR8;Q86VB7-3;Q86VB7	.;.;C163A_HUMAN	C	638;626;671;638	ENSP00000352071:F638C;ENSP00000444071:F626C;ENSP00000379863:F671C;ENSP00000403885:F638C	ENSP00000352071:F638C	F	-	2	0	CD163	7531359	1.000000	0.71417	0.994000	0.49952	0.095000	0.18619	7.181000	0.77682	2.070000	0.61991	0.533000	0.62120	TTT		0.488	CD163-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000399396.2	NM_004244, NM_203416		11	103	0	0	0	0.361761	0	11	103					C	7640092	A	C	7640092	3	2	101	1	0	0	0	0	1	0	0	0	2967	14	1	5	1593	5	CD163	12	7640092	Missense_Mutation	SNP	A	TCGA-EJ-7791-01A-11D-2114-08		7640092	126211803	17	5646											
TM9SF1	10548	broad.mit.edu	37	chr14	24661453	24661453	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgccggtagaagtggctggaCacgtagccagagatgcagca	11	6	15	9	2	0	2	0	0	0	2	0	4	0	3	2	3	4	5	2	3	3	2			TCGA-EJ-7791-01A-11D-2114-08	TCGA-EJ-7791-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d32f41fb-0744-4a62-81f6-0260c4920049	9ac76378-8ea0-4911-b4f2-043db4179a44	g.chr14:24661453C>T	ENST00000261789.4	-	4	1435	c.1077G>A	c.(1075-1077)gtG>gtA	p.V359V	TM9SF1_ENST00000528669.1_Silent_p.V359V|TM9SF1_ENST00000530611.1_Silent_p.V568V|TM9SF1_ENST00000524835.1_Silent_p.V272V|RP11-468E2.2_ENST00000561419.1_5'Flank|TM9SF1_ENST00000556387.1_Silent_p.V568V|TM9SF1_ENST00000396854.4_Silent_p.V359V	NM_006405.5	NP_006396.2	O15321	TM9S1_HUMAN	transmembrane 9 superfamily member 1	359					autophagy (GO:0006914)	cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)				NS(1)|breast(4)|endometrium(3)|large_intestine(11)|lung(4)|ovary(1)	24				GBM - Glioblastoma multiforme(265;0.0183)		AGTGGCTGGACACGTAGCCAG	0.547																																						ENST00000556387.1																			0				NS(1)|breast(4)|endometrium(3)|large_intestine(11)|lung(4)|ovary(1)	24						c.(1702-1704)gtG>gtA		transmembrane 9 superfamily member 1							116	109	111					14																	24661453		2203	4300	6503	SO:0001819	synonymous_variant	10548				autophagy	autophagic vacuole membrane|cytoplasmic vesicle|integral to membrane|lysosomal membrane		g.chr14:24661453C>T	U94831	CCDS9617.1, CCDS41934.1, CCDS73623.1	14q11.2	2005-10-11			ENSG00000100926	ENSG00000100926			11864	protein-coding gene	gene with protein product						9332367	Standard	NM_006405		Approved	MP70, HMP70	uc010tob.1	O15321	OTTHUMG00000029322	ENST00000261789.4:c.1077G>A	14.37:g.24661453C>T						TM9SF1_ENST00000530611.1_Silent_p.V568V|TM9SF1_ENST00000528669.1_Silent_p.V359V|TM9SF1_ENST00000396854.4_Silent_p.V359V|TM9SF1_ENST00000261789.4_Silent_p.V359V|TM9SF1_ENST00000524835.1_Silent_p.V272V	p.V568V			O15321	TM9S1_HUMAN		GBM - Glioblastoma multiforme(265;0.0183)	8	1737	-			359					D3DS65|Q86SZ6|Q96FI8	Silent	SNP	ENST00000261789.4	37	c.1704G>A	CCDS9617.1																																																																																				0.547	TM9SF1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000073136.2	NM_006405		11	156	0	0	0	0.361761	0	11	156					T	24661453	C	T	24661453	2	4	101	1	0	0	0	0	0	0	0	1	15974	465	17	3		3	TM9SF1	14	24661453	Silent	SNP	C	TCGA-EJ-7791-01A-11D-2114-08		24661453	82688087	18	5647											
ZNF770	54989	broad.mit.edu	37	chr15	35274087	35274087	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctgttcatgtctttttaagtGagctgactgtctaaaagatt	10	17	8	6	0	3	3	1	2	2	1	3	3	3	3	0	0	1	2	0	0	3	6			TCGA-EJ-7791-01A-11D-2114-08	TCGA-EJ-7791-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d32f41fb-0744-4a62-81f6-0260c4920049	9ac76378-8ea0-4911-b4f2-043db4179a44	g.chr15:35274087G>C	ENST00000356321.4	-	3	1893	c.1549C>G	c.(1549-1551)Cac>Gac	p.H517D		NM_014106.3	NP_054825.2	Q6IQ21	ZN770_HUMAN	zinc finger protein 770	517					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)	29		Lung NSC(122;4.59e-10)|all_lung(180;8.78e-09)		all cancers(64;1.97e-18)|GBM - Glioblastoma multiforme(113;2.11e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0643)		CTTTTTAAGTGAGCTGACTGT	0.343																																						ENST00000356321.4																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)	29						c.(1549-1551)Cac>Gac		zinc finger protein 770							58	59	59					15																	35274087		2201	4298	6499	SO:0001583	missense	54989				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr15:35274087G>C	BC071603	CCDS10042.1	15q14	2013-01-08			ENSG00000198146	ENSG00000198146		"Zinc fingers, C2H2-type"	26061	protein-coding gene	gene with protein product							Standard	NM_014106		Approved	FLJ20582, PRO1914	uc001ziw.3	Q6IQ21	OTTHUMG00000129689	ENST00000356321.4:c.1549C>G	15.37:g.35274087G>C	ENSP00000348673:p.His517Asp						p.H517D	NM_014106.3	NP_054825.2	Q6IQ21	ZN770_HUMAN		all cancers(64;1.97e-18)|GBM - Glioblastoma multiforme(113;2.11e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0643)	3	1893	-		Lung NSC(122;4.59e-10)|all_lung(180;8.78e-09)	517					Q6ZMZ6|Q9NWV2	Missense_Mutation	SNP	ENST00000356321.4	37	c.1549C>G	CCDS10042.1	.	.	.	.	.	.	.	.	.	.	G	12.58	1.979480	0.34942	.	.	ENSG00000198146	ENST00000356321	T	0.51325	0.71	5.1	5.1	0.69264	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.64402	D	0.000001	T	0.49423	0.1556	N	0.12611	0.24	0.27127	N	0.961981	D	0.76494	0.999	D	0.70935	0.971	T	0.46005	-0.9222	10	0.15499	T	0.54	-6.2734	18.6985	0.91611	0.0:0.0:1.0:0.0	.	517	Q6IQ21	ZN770_HUMAN	D	517	ENSP00000348673:H517D	ENSP00000348673:H517D	H	-	1	0	ZNF770	33061379	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.119000	0.57891	2.646000	0.89796	0.467000	0.42956	CAC		0.343	ZNF770-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251896.2	NM_014106		3	50	0	0	0	0.115264	0	3	50					C	35274087	G	C	35274087	3	2	101	1	0	0	0	0	1	0	0	0	18140	1290	45	5	530	5	ZNF770	15	35274087	Missense_Mutation	SNP	G	TCGA-EJ-7791-01A-11D-2114-08		35274087	67257305	19	5648											
LTK	4058	broad.mit.edu	37	chr15	41804906	41804906	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acctccgccgtgcacttacaGatactggccagggcccggca	8	6	11	16	3	0	1	0	0	0	1	1	1	1	1	5	3	3	2	5	3	2	2			TCGA-EJ-7791-01A-11D-2114-08	TCGA-EJ-7791-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d32f41fb-0744-4a62-81f6-0260c4920049	9ac76378-8ea0-4911-b4f2-043db4179a44	g.chr15:41804906G>A	ENST00000263800.6	-	3	454	c.358C>T	c.(358-360)Ctg>Ttg	p.L120L	LTK_ENST00000453182.2_Splice_Site_p.L120L|LTK_ENST00000355166.5_Splice_Site_p.L120L|LTK_ENST00000561619.1_Intron	NM_002344.5	NP_002335.2	P29376	LTK_HUMAN	leukocyte receptor tyrosine kinase	120					cell proliferation (GO:0008283)|cellular response to retinoic acid (GO:0071300)|negative regulation of apoptotic process (GO:0043066)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol 3-kinase signaling (GO:0014065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of neuron projection development (GO:0010976)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(16)|skin(3)|urinary_tract(1)	26		all_cancers(109;1.89e-19)|all_epithelial(112;2.28e-16)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.172)		OV - Ovarian serous cystadenocarcinoma(18;2.1e-17)|GBM - Glioblastoma multiforme(113;1.34e-06)|Colorectal(105;0.0148)|BRCA - Breast invasive adenocarcinoma(123;0.113)		TGCACTTACAGATACTGGCCA	0.667										TSP Lung(18;0.14)																												ENST00000263800.6																			0				NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(16)|skin(3)|urinary_tract(1)	26						c.e3+1		leukocyte receptor tyrosine kinase							11	12	11					15																	41804906		2183	4252	6435	SO:0001630	splice_region_variant	4058				apoptosis|cell proliferation|phosphatidylinositol 3-kinase cascade|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane|soluble fraction	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr15:41804906G>A	D16105	CCDS10077.1, CCDS10078.1, CCDS45237.1	15q15.1-q21.1	2009-07-10	2008-01-23		ENSG00000062524	ENSG00000062524	2.7.10.1		6721	protein-coding gene	gene with protein product		151520	"leukocyte tyrosine kinase"			2320375	Standard	NM_206961		Approved	TYK1	uc001zoa.3	P29376	OTTHUMG00000130339	ENST00000263800.6:c.359+1C>T	15.37:g.41804906G>A		TSP Lung(18;0.14)				LTK_ENST00000453182.2_Splice_Site_p.L120_splice|LTK_ENST00000561619.1_Intron|LTK_ENST00000355166.5_Splice_Site_p.L120_splice	p.L120_splice	NM_002344.5	NP_002335.2	P29376	LTK_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;2.1e-17)|GBM - Glioblastoma multiforme(113;1.34e-06)|Colorectal(105;0.0148)|BRCA - Breast invasive adenocarcinoma(123;0.113)	3	454	-		all_cancers(109;1.89e-19)|all_epithelial(112;2.28e-16)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.172)	120					A6NNJ8|B4DL89|E9PFX4	Splice_Site	SNP	ENST00000263800.6	37	c.359_splice	CCDS10077.1																																																																																				0.667	LTK-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252690.2		Silent	4	16	0	0	0	0.150653	0	4	16					A	41804906	G	A	41804906	5	1	101	1	0	0	0	0	0	0	1	0	9080	956	33	3	2308	3	LTK	15	41804906	Splice_Site	SNP	G	TCGA-EJ-7791-01A-11D-2114-08	6530819	41804906	60726486	20	5649											
FANCA	2175	broad.mit.edu	37	chr16	89813241	89813241	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgagggagcatctcacccTgaagaagtgggcagtgatgt	10	8	15	8	0	1	4	1	3	1	1	2	5	1	5	1	2	1	3	1	2	2	0			TCGA-EJ-7791-01A-11D-2114-08	TCGA-EJ-7791-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d32f41fb-0744-4a62-81f6-0260c4920049	9ac76378-8ea0-4911-b4f2-043db4179a44	g.chr16:89813241T>C	ENST00000389301.3	-	34	3436	c.3406A>G	c.(3406-3408)Agg>Ggg	p.R1136G	FANCA_ENST00000568369.1_Missense_Mutation_p.R1136G	NM_000135.2	NP_000126.2	O15360	FANCA_HUMAN	Fanconi anemia, complementation group A	1136					DNA repair (GO:0006281)|female gonad development (GO:0008585)|male gonad development (GO:0008584)|male meiosis (GO:0007140)|protein complex assembly (GO:0006461)|regulation of cell proliferation (GO:0042127)	cytoplasm (GO:0005737)|Fanconi anaemia nuclear complex (GO:0043240)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				breast(5)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|urinary_tract(3)	47		Lung NSC(15;8.48e-06)|all_lung(18;1.31e-05)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.028)		CATCTCACCCTGAAGAAGTGG	0.547			"D, Mis, N, F, S"			"AML, leukemia"		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																													ENST00000389301.3			yes	Rec		Fanconi anaemia A	16	16q24.3	2175	"D, Mis, N, F, S"	"Fanconi anemia, complementation group A"			L		"AML, leukemia"			0				breast(5)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|urinary_tract(3)	47						c.(3406-3408)Agg>Ggg	Involved in tolerance or repair of DNA crosslinks	Fanconi anemia, complementation group A							68	50	56					16																	89813241		2196	4292	6488	SO:0001583	missense	2175	Fanconi Anemia	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	DNA repair|protein complex assembly	cytoplasm|nucleoplasm	protein binding	g.chr16:89813241T>C	Z83067	CCDS32515.1, CCDS42221.1, CCDS67099.1	16q24.3	2014-09-17			ENSG00000187741	ENSG00000187741		"Fanconi anemia, complementation groups"	3582	protein-coding gene	gene with protein product		607139		FACA, FANCH		7581462, 9382107	Standard	NM_001286167		Approved	FAA, FA-H, FAH	uc002fou.1	O15360		ENST00000389301.3:c.3406A>G	16.37:g.89813241T>C	ENSP00000373952:p.Arg1136Gly					FANCA_ENST00000568369.1_Missense_Mutation_p.R1136G	p.R1136G	NM_000135.2	NP_000126.2	O15360	FANCA_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.028)	34	3436	-		Lung NSC(15;8.48e-06)|all_lung(18;1.31e-05)|all_hematologic(23;0.0194)	1136					A5D923|B4DRI7|H3BSR5|O75266|Q6PL10|Q92497|Q96H18|Q9UEA5|Q9UEL8|Q9UEL9|Q9UPK3|Q9Y6M2	Missense_Mutation	SNP	ENST00000389301.3	37	c.3406A>G	CCDS32515.1	.	.	.	.	.	.	.	.	.	.	T	18.78	3.696826	0.68386	.	.	ENSG00000187741	ENST00000389301;ENST00000305699	D	0.88586	-2.4	5.09	2.8	0.32819	.	0.000000	0.64402	D	0.000003	D	0.93161	0.7822	M	0.74881	2.28	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.997;0.996;0.996	D	0.92349	0.5888	10	0.87932	D	0	-24.7688	11.4895	0.50373	0.0:0.0:0.3228:0.6772	.	113;1136;1136	B7Z6Y4;B4DRI7;O15360	.;.;FANCA_HUMAN	G	1136;113	ENSP00000373952:R1136G	ENSP00000306281:R113G	R	-	1	2	FANCA	88340742	1.000000	0.71417	1.000000	0.80357	0.810000	0.45777	1.711000	0.37930	0.354000	0.24105	0.459000	0.35465	AGG		0.547	FANCA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000421927.1			2	5	0	0	0	0.115264	0	2	5					C	89813241	T	C	89813241	3	2	101	1	0	0	0	0	1	0	0	0	5662	1579	55	4	1001	4	FANCA	16	89813241	Missense_Mutation	SNP	T	TCGA-EJ-7791-01A-11D-2114-08		89813241	541512	21	5650											
C17orf56	146705	broad.mit.edu	37	chr17	79207240	79207240	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctccccactcacccgtgcggCcgtgttccttgctgtagccg	3	10	10	18	4	1	0	1	0	0	0	3	0	3	0	6	1	3	3	6	1	1	3			TCGA-EJ-7791-01A-11D-2114-08	TCGA-EJ-7791-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d32f41fb-0744-4a62-81f6-0260c4920049	9ac76378-8ea0-4911-b4f2-043db4179a44	g.chr17:79207240C>A	ENST00000300714.3	-	7	575	c.518G>T	c.(517-519)gGc>gTc	p.G173V	AC027601.1_ENST00000569559.1_RNA|AC027601.1_ENST00000575922.1_RNA|ENTHD2_ENST00000374769.2_Missense_Mutation_p.G21V	NM_144679.2	NP_653280.1	Q96N21	AP4AT_HUMAN	ENTH domain containing 2	173						cytoplasmic vesicle (GO:0031410)											ACCCGTGCGGCCGTGTTCCTT	0.687																																						ENST00000374769.2																			0											c.(61-63)gGc>gTc		ENTH domain containing 2							46	42	44					17																	79207240		2203	4300	6503	SO:0001583	missense	146705							g.chr17:79207240C>A	AK056090	CCDS11779.1	17q25.3	2012-07-18	2012-07-18	2012-07-18	ENSG00000167302	ENSG00000167302			26458	protein-coding gene	gene with protein product			"chromosome 17 open reading frame 56"	C17orf56			Standard	NM_144679		Approved	FLJ31528	uc002jzu.2	Q96N21	OTTHUMG00000177866	ENST00000300714.3:c.518G>T	17.37:g.79207240C>A	ENSP00000300714:p.Gly173Val					AC027601.1_ENST00000575922.1_RNA|ENTHD2_ENST00000300714.3_Missense_Mutation_p.G173V	p.G21V							7	539	-								Q6ZQU0|Q6ZSQ9	Missense_Mutation	SNP	ENST00000300714.3	37	c.62G>T	CCDS11779.1	.	.	.	.	.	.	.	.	.	.	C	14.27	2.485275	0.44147	.	.	ENSG00000167302	ENST00000300714;ENST00000374769	T	0.20463	2.07	4.88	1.47	0.22746	.	0.568732	0.19232	N	0.119391	T	0.19765	0.0475	N	0.22421	0.69	0.09310	N	0.999996	D;P	0.54964	0.969;0.893	P;P	0.55923	0.787;0.563	T	0.13415	-1.0510	10	0.20519	T	0.43	-15.2324	7.883	0.29633	0.0:0.4151:0.4932:0.0917	.	173;21	Q96N21;Q96N21-2	CQ056_HUMAN;.	V	173;21	ENSP00000300714:G173V	ENSP00000300714:G173V	G	-	2	0	C17orf56	76821835	0.000000	0.05858	0.002000	0.10522	0.007000	0.05969	0.744000	0.26245	0.438000	0.26450	0.462000	0.41574	GGC		0.687	ENTHD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439315.1	NM_144679		3	31	1	0	1.23904e-05	0.184627	1.42125e-05	3	31					A	79207240	C	A	79207240	3	1	101	1	0	0	0	0	1	0	0	0	1864	739	26	5	1083	5	C17orf56	17	79207240	Missense_Mutation	SNP	C	TCGA-EJ-7791-01A-11D-2114-08		79207240	1987970	22	5651											
KIAA1543	57662	broad.mit.edu	37	chr19	7675491	7675491	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggacttgctgtacgtcccacCgccactcaaggtaaggccat	9	8	10	14	2	1	0	1	0	0	0	2	1	2	1	4	3	2	3	4	3	3	3	rs375404607		TCGA-EJ-7791-01A-11D-2114-08	TCGA-EJ-7791-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d32f41fb-0744-4a62-81f6-0260c4920049	9ac76378-8ea0-4911-b4f2-043db4179a44	g.chr19:7675491C>T	ENST00000160298.4	+	6	991	c.890C>T	c.(889-891)cCg>cTg	p.P297L	CAMSAP3_ENST00000446248.2_Missense_Mutation_p.P324L	NM_020902.1	NP_065953.1	Q9P1Y5	CAMP3_HUMAN	calmodulin regulated spectrin-associated protein family, member 3	297	CH.				epithelial cell-cell adhesion (GO:0090136)|microtubule anchoring (GO:0034453)|microtubule cytoskeleton organization (GO:0000226)|negative regulation of phosphatase activity (GO:0010923)|regulation of microtubule cytoskeleton organization (GO:0070507)|regulation of organelle organization (GO:0033043)|zonula adherens maintenance (GO:0045218)	cytoplasm (GO:0005737)|microtubule minus-end (GO:0036449)|zonula adherens (GO:0005915)	microtubule minus-end binding (GO:0051011)			cervix(1)|endometrium(7)|kidney(3)|lung(6)|urinary_tract(2)	19						TACGTCCCACCGCCACTCAAG	0.667																																						ENST00000446248.2																			0				cervix(1)|endometrium(7)|kidney(3)|lung(6)|urinary_tract(2)	19						c.(970-972)cCg>cTg		calmodulin regulated spectrin-associated protein family, member 3		C	LEU/PRO,LEU/PRO	0,4090		0,0,2045	96	109	105		971,890	5.4	0.7	19		105	1,8341		0,1,4170	no	missense,missense	CAMSAP3	NM_001080429.2,NM_020902.1	98,98	0,1,6215	TT,TC,CC		0.012,0.0,0.0080	probably-damaging,probably-damaging	324/1277,297/1250	7675491	1,12431	2045	4171	6216	SO:0001583	missense	57662				epithelial cell-cell adhesion|microtubule anchoring|regulation of microtubule cytoskeleton organization|zonula adherens maintenance	cytoplasm|microtubule|zonula adherens	microtubule minus-end binding	g.chr19:7675491C>T	AB040976	CCDS42489.1, CCDS45947.1	19p13.3-p13.2	2014-06-12	2011-08-18	2011-08-18		ENSG00000076826			29307	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 80"	612685	"KIAA1543"	KIAA1543		11318610, 10819331, 19041755, 19508979	Standard	NM_001080429		Approved	Nezha, PPP1R80	uc002mgu.4	Q9P1Y5		ENST00000160298.4:c.890C>T	19.37:g.7675491C>T	ENSP00000160298:p.Pro297Leu					CAMSAP3_ENST00000160298.4_Missense_Mutation_p.P297L	p.P324L	NM_001080429.2	NP_001073898.1	Q9P1Y5	CAMP3_HUMAN			8	1072	+			297					Q8NDF1	Missense_Mutation	SNP	ENST00000160298.4	37	c.971C>T	CCDS42489.1	.	.	.	.	.	.	.	.	.	.	c	12.10	1.836754	0.32421	0.0	1.2E-4	ENSG00000076826	ENST00000446248;ENST00000160298	T;T	0.14266	2.52;2.53	5.41	5.41	0.78517	Calponin homology domain (2);	0.342411	0.30809	N	0.008832	T	0.24661	0.0598	L	0.38531	1.155	0.46478	D	0.999067	P;D	0.71674	0.934;0.998	P;P	0.56788	0.52;0.806	T	0.00391	-1.1769	10	0.56958	D	0.05	-22.5117	17.9714	0.89113	0.0:1.0:0.0:0.0	.	297;324	Q9P1Y5;Q9P1Y5-2	CAMP3_HUMAN;.	L	324;297	ENSP00000416797:P324L;ENSP00000160298:P297L	ENSP00000160298:P297L	P	+	2	0	KIAA1543	7581491	0.008000	0.16893	0.728000	0.30774	0.050000	0.14768	1.160000	0.31761	2.533000	0.85409	0.643000	0.83706	CCG		0.667	CAMSAP3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000459300.1	XM_048362		12	242	0	0	0	0.457914	0	12	242					T	7675491	C	T	7675491	3	4	101	1	0	0	0	0	1	0	0	0	8243	652	23	2	1001	2	KIAA1543	19	7675491	Missense_Mutation	SNP	C	TCGA-EJ-7791-01A-11D-2114-08		7675491	51453492	23	5652											
NWD1	284434	broad.mit.edu	37	chr19	16861005	16861005	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	caaggaggacgctgagcccgGtgcacacagatttgctctgg	9	7	14	11	2	1	2	0	1	1	1	1	4	1	4	1	4	3	3	1	4	1	1			TCGA-EJ-7791-01A-11D-2114-08	TCGA-EJ-7791-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d32f41fb-0744-4a62-81f6-0260c4920049	9ac76378-8ea0-4911-b4f2-043db4179a44	g.chr19:16861005G>C	ENST00000552788.1	+	4	1552	c.1552G>C	c.(1552-1554)Gtg>Ctg	p.V518L	NWD1_ENST00000339803.6_Missense_Mutation_p.V383L|NWD1_ENST00000379808.3_Missense_Mutation_p.V518L|NWD1_ENST00000549814.1_Missense_Mutation_p.V518L|NWD1_ENST00000524140.2_Missense_Mutation_p.V518L|NWD1_ENST00000523826.1_Missense_Mutation_p.V312L			Q149M9	NWD1_HUMAN	NACHT and WD repeat domain containing 1	518	NACHT.						ATP binding (GO:0005524)			NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						GCTGAGCCCGGTGCACACAGA	0.632																																						ENST00000524140.2																			0				NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						c.(1552-1554)Gtg>Ctg		NACHT and WD repeat domain containing 1							37	37	37					19																	16861005		2202	4300	6502	SO:0001583	missense	284434						ATP binding	g.chr19:16861005G>C	BX648940	CCDS32945.1, CCDS32945.2	19p13.11	2013-01-09				ENSG00000188039		"WD repeat domain containing"	27619	protein-coding gene	gene with protein product							Standard	NM_001007525		Approved		uc002neu.4	Q149M9		ENST00000552788.1:c.1552G>C	19.37:g.16861005G>C	ENSP00000447224:p.Val518Leu					NWD1_ENST00000549814.1_Missense_Mutation_p.V518L|NWD1_ENST00000552788.1_Missense_Mutation_p.V518L|NWD1_ENST00000523826.1_Missense_Mutation_p.V312L|NWD1_ENST00000379808.3_Missense_Mutation_p.V518L|NWD1_ENST00000339803.6_Missense_Mutation_p.V383L	p.V518L	NM_001007525.3	NP_001007526.3	Q149M9	NWD1_HUMAN			6	1970	+			518			NACHT.		C9J021|Q68CT3	Missense_Mutation	SNP	ENST00000552788.1	37	c.1552G>C		.	.	.	.	.	.	.	.	.	.	g	0.111	-1.138388	0.01742	.	.	ENSG00000188039	ENST00000420818;ENST00000524140;ENST00000549814;ENST00000379808;ENST00000523826;ENST00000552788;ENST00000339803	T;T;T;T;T;T	0.55760	0.5;0.56;0.5;0.5;0.56;0.56	5.04	2.87	0.33458	.	1.126930	0.06683	N	0.768358	T	0.36991	0.0987	N	0.14661	0.345	0.09310	N	1	B;B;B	0.23249	0.013;0.082;0.039	B;B;B	0.21546	0.006;0.035;0.016	T	0.28299	-1.0048	10	0.29301	T	0.29	-0.8365	9.7041	0.40205	0.1749:0.0:0.8251:0.0	.	518;518;383	Q149M9;Q149M9-3;C9J2Y8	NWD1_HUMAN;.;.	L	383;518;518;518;312;518;383	ENSP00000428579:V518L;ENSP00000447548:V518L;ENSP00000369136:V518L;ENSP00000428955:V312L;ENSP00000447224:V518L;ENSP00000340159:V383L	ENSP00000340159:V383L	V	+	1	0	NWD1	16722005	0.455000	0.25736	0.000000	0.03702	0.098000	0.18820	3.817000	0.55668	0.525000	0.28522	0.549000	0.68633	GTG		0.632	NWD1-005	NOVEL	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000403569.1	NM_001007525		4	101	0	0	0	0.150653	0	4	101					C	16861005	G	C	16861005	3	2	101	1	0	0	0	0	1	0	0	0	10781	1261	44	5	1153	5	NWD1	19	16861005	Missense_Mutation	SNP	G	TCGA-EJ-7791-01A-11D-2114-08	9185514	16861005	42267978	24	5653											
KLHL26	55295	broad.mit.edu	37	chr19	18778497	18778497	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	catgttcaccggcggcatgcGggaggcaagccaggacgtca	9	5	15	12	4	2	0	2	0	0	0	2	2	2	2	2	5	2	3	2	5	1	1			TCGA-EJ-7791-01A-11D-2114-08	TCGA-EJ-7791-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d32f41fb-0744-4a62-81f6-0260c4920049	9ac76378-8ea0-4911-b4f2-043db4179a44	g.chr19:18778497G>A	ENST00000300976.4	+	3	380	c.290G>A	c.(289-291)cGg>cAg	p.R97Q	KLHL26_ENST00000599006.1_Missense_Mutation_p.R97Q|KLHL26_ENST00000596843.1_3'UTR	NM_018316.1	NP_060786.1	Q53HC5	KLH26_HUMAN	kelch-like family member 26	97	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.									breast(1)|central_nervous_system(1)|kidney(1)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	17						GGCGGCATGCGGGAGGCAAGC	0.642																																						ENST00000300976.4																			0				breast(1)|central_nervous_system(1)|kidney(1)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	17						c.(289-291)cGg>cAg		kelch-like family member 26							61	59	59					19																	18778497		2203	4298	6501	SO:0001583	missense	55295							g.chr19:18778497G>A		CCDS12384.1	19p13.11	2013-10-15	2013-02-22		ENSG00000167487	ENSG00000167487		"Kelch-like", "BTB/POZ domain containing"	25623	protein-coding gene	gene with protein product			"kelch-like 26 (Drosophila)"				Standard	XM_006722785		Approved		uc002njz.1	Q53HC5	OTTHUMG00000183114	ENST00000300976.4:c.290G>A	19.37:g.18778497G>A	ENSP00000300976:p.Arg97Gln					KLHL26_ENST00000599006.1_Missense_Mutation_p.R97Q|KLHL26_ENST00000596843.1_3'UTR	p.R97Q	NM_018316.1	NP_060786.1	Q53HC5	KLH26_HUMAN			3	380	+			97			BTB.		Q8TAP0|Q9NUX3	Missense_Mutation	SNP	ENST00000300976.4	37	c.290G>A	CCDS12384.1	.	.	.	.	.	.	.	.	.	.	G	14.61	2.586731	0.46110	.	.	ENSG00000167487	ENST00000431920;ENST00000300976	T	0.66460	-0.21	5.04	5.04	0.67666	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.107320	0.64402	D	0.000009	T	0.66197	0.2765	M	0.61703	1.905	0.50632	D	0.99988	P	0.34826	0.471	B	0.36567	0.228	T	0.65005	-0.6273	10	0.28530	T	0.3	.	17.3648	0.87360	0.0:0.0:1.0:0.0	.	97	Q53HC5	KLH26_HUMAN	Q	97	ENSP00000300976:R97Q	ENSP00000300976:R97Q	R	+	2	0	KLHL26	18639497	1.000000	0.71417	1.000000	0.80357	0.624000	0.37722	3.669000	0.54561	2.341000	0.79615	0.591000	0.81541	CGG		0.642	KLHL26-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465145.1	NM_018316		6	132	0	0	0	0.248553	0	6	132					A	18778497	G	A	18778497	3	1	101	1	0	0	0	0	1	0	0	0	8381	1116	39	2	300	2	KLHL26	19	18778497	Missense_Mutation	SNP	G	TCGA-EJ-7791-01A-11D-2114-08	1917492	18778497	40350486	25	5654											
L1CAM	3897	broad.mit.edu	37	chrX	153135088	153135088	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaggatcagggcgccacgcTgaatccggtacttctggtct	7	10	12	12	3	4	1	2	1	2	0	5	2	5	2	2	4	1	2	2	4	2	2			TCGA-EJ-7791-01A-11D-2114-08	TCGA-EJ-7791-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d32f41fb-0744-4a62-81f6-0260c4920049	9ac76378-8ea0-4911-b4f2-043db4179a44	g.chrX:153135088T>C	ENST00000370060.1	-	11	1343	c.1154A>G	c.(1153-1155)cAg>cGg	p.Q385R	L1CAM_ENST00000370055.1_Missense_Mutation_p.Q380R|L1CAM_ENST00000361699.4_Missense_Mutation_p.Q385R|L1CAM_ENST00000538883.1_Missense_Mutation_p.Q387R|L1CAM_ENST00000543994.1_Missense_Mutation_p.Q387R|L1CAM_ENST00000361981.3_Missense_Mutation_p.Q380R|L1CAM_ENST00000370057.3_Missense_Mutation_p.Q385R	NM_001278116.1	NP_001265045.1	P32004	L1CAM_HUMAN	L1 cell adhesion molecule	385	Ig-like C2-type 4.				axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell death (GO:0008219)|cell surface receptor signaling pathway (GO:0007166)|cell-cell adhesion mediated by integrin (GO:0033631)|chemotaxis (GO:0006935)|heterophilic cell-cell adhesion (GO:0007157)|homophilic cell adhesion (GO:0007156)|homotypic cell-cell adhesion (GO:0034109)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|nervous system development (GO:0007399)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of cell-cell adhesion (GO:0022409)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	sialic acid binding (GO:0033691)			NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	81	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GGCGCCACGCTGAATCCGGTA	0.632																																						ENST00000370060.1																			0				NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	81						c.(1153-1155)cAg>cGg		L1 cell adhesion molecule							84	69	74					X																	153135088		2202	4298	6500	SO:0001583	missense	3897				axon guidance|blood coagulation|cell death|leukocyte migration	integral to membrane		g.chrX:153135088T>C	M74387	CCDS14733.1, CCDS14734.1, CCDS48192.1	Xq28	2014-09-17	2003-04-07		ENSG00000198910	ENSG00000198910		"CD molecules", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	6470	protein-coding gene	gene with protein product		308840	"antigen identified by monoclonal antibody R1"	HSAS1, SPG1, HSAS, MASA, MIC5, S10			Standard	NM_001278116		Approved	CD171	uc031tks.1	P32004	OTTHUMG00000024221	ENST00000370060.1:c.1154A>G	X.37:g.153135088T>C	ENSP00000359077:p.Gln385Arg					L1CAM_ENST00000370055.1_Missense_Mutation_p.Q380R|L1CAM_ENST00000543994.1_Missense_Mutation_p.Q387R|L1CAM_ENST00000538883.1_Missense_Mutation_p.Q387R|L1CAM_ENST00000361699.4_Missense_Mutation_p.Q385R|L1CAM_ENST00000361981.3_Missense_Mutation_p.Q380R|L1CAM_ENST00000370057.3_Missense_Mutation_p.Q385R	p.Q385R	NM_001278116.1	NP_001265045.1	P32004	L1CAM_HUMAN			11	1343	-	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		385			Ig-like C2-type 4.		A0AV65|A4ZYW4|B2RMU7|G3XAF4|Q8TA87	Missense_Mutation	SNP	ENST00000370060.1	37	c.1154A>G	CCDS14733.1	.	.	.	.	.	.	.	.	.	.	T	10.21	1.286142	0.23478	.	.	ENSG00000198910	ENST00000370060;ENST00000543994;ENST00000370057;ENST00000538883;ENST00000361981;ENST00000370055;ENST00000361699	T;T;T;T;T;T;T	0.66460	-0.21;-0.21;-0.21;-0.21;-0.21;-0.21;-0.21	5.6	3.19	0.36642	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	1.390120	0.04373	N	0.359384	T	0.53981	0.1830	N	0.17872	0.535	0.09310	N	1	B;B;B	0.22480	0.001;0.001;0.07	B;B;B	0.29440	0.001;0.002;0.102	T	0.41215	-0.9521	10	0.21014	T	0.42	.	7.3437	0.26652	0.0:0.1801:0.0:0.8199	.	380;385;385	G3XAF4;P32004-2;P32004	.;.;L1CAM_HUMAN	R	385;387;385;387;380;380;385	ENSP00000359077:Q385R;ENSP00000438430:Q387R;ENSP00000359074:Q385R;ENSP00000439645:Q387R;ENSP00000354712:Q380R;ENSP00000359072:Q380R;ENSP00000355380:Q385R	ENSP00000355380:Q385R	Q	-	2	0	L1CAM	152788282	0.312000	0.24545	0.000000	0.03702	0.880000	0.50808	1.997000	0.40786	0.266000	0.21894	0.393000	0.25936	CAG		0.632	L1CAM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000061094.2	NM_024003		3	9	0	0	0	0.115264	0	3	9					C	153135088	T	C	153135088	3	2	101	1	0	0	0	0	1	0	0	0	8588	1580	55	4	2695	4	L1CAM	23	153135088	Missense_Mutation	SNP	T	TCGA-EJ-7791-01A-11D-2114-08		153135088	2135472	26	5655											
RNF207	388591	broad.mit.edu	37	chr1	6270283	6270283	+	Splice_Site	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	aggcagcccccctcccccagCcaatacgaagagaaggacaa	14	2	9	16	1	0	1	0	0	0	1	1	4	1	2	6	2	3	1	6	2	5	1			TCGA-EJ-7792-01A-11D-2114-08	TCGA-EJ-7792-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2903d109-d1bb-4545-a90a-81a3d8d62406	c6995bd6-51d1-4786-9c0a-e4aebe984d5f	g.chr1:6270283C>G	ENST00000377939.4	+	9	928	c.801C>G	c.(799-801)agC>agG	p.S267R	RNF207_ENST00000377948.2_Splice_Site_p.S40R	NM_207396.2	NP_997279.2	Q6ZRF8	RN207_HUMAN	ring finger protein 207	267						intracellular (GO:0005622)	zinc ion binding (GO:0008270)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)|ovary(2)	16	Ovarian(185;0.0634)	all_cancers(23;1.22e-38)|all_epithelial(116;4.25e-22)|all_lung(118;7.95e-08)|Lung NSC(185;1.6e-06)|all_neural(13;3.18e-06)|all_hematologic(16;8.99e-06)|Acute lymphoblastic leukemia(12;0.000365)|Breast(487;0.000496)|Renal(390;0.0007)|Colorectal(325;0.00104)|Glioma(11;0.00203)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0392)|Medulloblastoma(700;0.211)		Epithelial(90;4.84e-38)|GBM - Glioblastoma multiforme(13;5.77e-32)|OV - Ovarian serous cystadenocarcinoma(86;2.88e-19)|Colorectal(212;6.9e-08)|COAD - Colon adenocarcinoma(227;8.13e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00108)|STAD - Stomach adenocarcinoma(132;0.00311)|READ - Rectum adenocarcinoma(331;0.0642)|Lung(427;0.182)		CCTCCCCCAGCCAATACGAAG	0.667																																						ENST00000377939.4																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)|ovary(2)	16						c.e9-1		ring finger protein 207							43	45	45					1																	6270283		2203	4300	6503	SO:0001630	splice_region_variant	388591					intracellular	zinc ion binding	g.chr1:6270283C>G	AK128246	CCDS59.2	1p36.31	2008-11-19			ENSG00000158286	ENSG00000158286		"RING-type (C3HC4) zinc fingers"	32947	protein-coding gene	gene with protein product	"OTTHUMG00000001089"		"chromosome 1 open reading frame 188"	C1orf188			Standard	NM_207396		Approved	FLJ46380, FLJ32096	uc001amg.3	Q6ZRF8	OTTHUMG00000001089	ENST00000377939.4:c.801-1C>G	1.37:g.6270283C>G						RNF207_ENST00000377948.2_Splice_Site_p.S40_splice	p.S267_splice	NM_207396.2	NP_997279.2	Q6ZRF8	RN207_HUMAN		Epithelial(90;4.84e-38)|GBM - Glioblastoma multiforme(13;5.77e-32)|OV - Ovarian serous cystadenocarcinoma(86;2.88e-19)|Colorectal(212;6.9e-08)|COAD - Colon adenocarcinoma(227;8.13e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00108)|STAD - Stomach adenocarcinoma(132;0.00311)|READ - Rectum adenocarcinoma(331;0.0642)|Lung(427;0.182)	9	928	+	Ovarian(185;0.0634)	all_cancers(23;1.22e-38)|all_epithelial(116;4.25e-22)|all_lung(118;7.95e-08)|Lung NSC(185;1.6e-06)|all_neural(13;3.18e-06)|all_hematologic(16;8.99e-06)|Acute lymphoblastic leukemia(12;0.000365)|Breast(487;0.000496)|Renal(390;0.0007)|Colorectal(325;0.00104)|Glioma(11;0.00203)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0392)|Medulloblastoma(700;0.211)	267					A2VCM8|B4DFR6|Q5TGS6|Q6ZS63|Q96MP2	Splice_Site	SNP	ENST00000377939.4	37	c.800_splice	CCDS59.2	.	.	.	.	.	.	.	.	.	.	C	8.573	0.880600	0.17467	.	.	ENSG00000158286	ENST00000377948;ENST00000377939	T	0.17691	2.26	4.55	3.62	0.41486	.	0.000000	0.64402	U	0.000011	T	0.21590	0.0520	L	0.35723	1.085	0.41164	D	0.986114	D	0.60575	0.988	P	0.55222	0.771	T	0.01053	-1.1467	9	.	.	.	.	10.4839	0.44711	0.0:0.8427:0.0:0.1573	.	267	Q6ZRF8	RN207_HUMAN	R	40;267	ENSP00000367173:S267R	.	S	+	3	2	RNF207	6192870	1.000000	0.71417	1.000000	0.80357	0.507000	0.33981	0.991000	0.29654	2.072000	0.62099	0.655000	0.94253	AGC		0.667	RNF207-001	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000003669.2	NM_207396	Missense_Mutation	16	44	0	0	0	0.038395	0	16	44					G	6270283	C	G	6270283	5	3	102	1	0	0	0	0	0	0	1	0	13474	753	26	5	831	5	RNF207	1	6270283	Splice_Site	SNP	C	TCGA-EJ-7792-01A-11D-2114-08		6270283	242980338	1	5656											
ZNF197	10168	broad.mit.edu	37	chr3	44684197	44684197	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttcattctgaagaagagcctCattctgcaccagagaatcca	13	10	7	11	0	4	4	2	1	2	3	5	5	5	4	3	0	2	1	3	0	3	3	rs532609664		TCGA-EJ-7792-01A-11D-2114-08	TCGA-EJ-7792-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2903d109-d1bb-4545-a90a-81a3d8d62406	c6995bd6-51d1-4786-9c0a-e4aebe984d5f	g.chr3:44684197C>T	ENST00000396058.1	+	5	1742	c.1575C>T	c.(1573-1575)ctC>ctT	p.L525L	ZNF197_ENST00000383745.2_Intron|RP11-944L7.4_ENST00000457331.1_RNA|ZNF197_ENST00000383744.4_Intron|ZNF197_ENST00000344387.4_Silent_p.L525L			O14709	ZN197_HUMAN	zinc finger protein 197	525					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(1)	25				KIRC - Kidney renal clear cell carcinoma(197;0.0478)|Kidney(197;0.0598)		AGAAGAGCCTCATTCTGCACC	0.423																																						ENST00000396058.1																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(1)	25						c.(1573-1575)ctC>ctT		zinc finger protein 197							69	77	74					3																	44684197		2202	4300	6502	SO:0001819	synonymous_variant	10168				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr3:44684197C>T	AF011573	CCDS2717.1, CCDS33743.1	3p21	2013-01-09	2003-10-07		ENSG00000186448	ENSG00000186448		"Zinc fingers, C2H2-type", "-", "-", "-"	12988	protein-coding gene	gene with protein product			"zinc finger protein 166"	ZNF166		9380504, 8353497	Standard	XM_005264783		Approved	P18, D3S1363E, ZKSCAN9, ZSCAN41	uc003cnm.3	O14709	OTTHUMG00000133089	ENST00000396058.1:c.1575C>T	3.37:g.44684197C>T						RP11-944L7.4_ENST00000457331.1_RNA|ZNF197_ENST00000383745.2_Intron|ZNF197_ENST00000383744.4_Intron|ZNF197_ENST00000344387.4_Silent_p.L525L	p.L525L			O14709	ZN197_HUMAN		KIRC - Kidney renal clear cell carcinoma(197;0.0478)|Kidney(197;0.0598)	5	1742	+			525					B2RAH8|Q86VG0	Silent	SNP	ENST00000396058.1	37	c.1575C>T	CCDS2717.1																																																																																				0.423	ZNF197-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256747.4	NM_006991		17	101	0	0	0	0.038395	0	17	101					T	44684197	C	T	44684197	2	4	102	1	0	0	0	0	0	0	0	1	17756	813	29	3		3	ZNF197	3	44684197	Silent	SNP	C	TCGA-EJ-7792-01A-11D-2114-08		44684197	153338233	2	5657											
QARS	5859	broad.mit.edu	37	chr3	49140801	49140801	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catgtccacttcattcttgaTcattttgccatctgcccact	7	16	4	14	0	4	1	2	1	2	0	5	1	5	1	3	0	2	0	3	0	0	5			TCGA-EJ-7792-01A-11D-2114-08	TCGA-EJ-7792-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2903d109-d1bb-4545-a90a-81a3d8d62406	c6995bd6-51d1-4786-9c0a-e4aebe984d5f	g.chr3:49140801T>C	ENST00000306125.6	-	5	830	c.493A>G	c.(493-495)Atc>Gtc	p.I165V	QARS_ENST00000470225.1_5'Flank|QARS_ENST00000420147.2_Missense_Mutation_p.I183V|QARS_ENST00000414533.1_Missense_Mutation_p.I154V			P47897	SYQ_HUMAN	glutaminyl-tRNA synthetase	165					brain development (GO:0007420)|gene expression (GO:0010467)|glutaminyl-tRNA aminoacylation (GO:0006425)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrial matrix (GO:0005759)	ATP binding (GO:0005524)|glutamine-tRNA ligase activity (GO:0004819)			breast(1)|endometrium(1)|large_intestine(9)|lung(4)|ovary(1)|prostate(2)|urinary_tract(1)	19				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	L-Glutamine(DB00130)	TCATTCTTGATCATTTTGCCA	0.507																																						ENST00000306125.6																			0				breast(1)|endometrium(1)|large_intestine(9)|lung(4)|ovary(1)|prostate(2)|urinary_tract(1)	19						c.(493-495)Atc>Gtc		glutaminyl-tRNA synthetase	L-Glutamine(DB00130)						155	136	143					3																	49140801		2203	4300	6503	SO:0001583	missense	5859				glutaminyl-tRNA aminoacylation	cytosol|mitochondrial matrix	ATP binding|glutamine-tRNA ligase activity|protein binding	g.chr3:49140801T>C	X76013	CCDS2788.1, CCDS63633.1	3p21.31	2011-07-01			ENSG00000172053	ENSG00000172053	6.1.1.18	"Aminoacyl tRNA synthetases / Class I"	9751	protein-coding gene	gene with protein product	"glutamine tRNA ligase"	603727				8078941, 10393422	Standard	NM_005051		Approved		uc003cvx.4	P47897	OTTHUMG00000156774	ENST00000306125.6:c.493A>G	3.37:g.49140801T>C	ENSP00000307567:p.Ile165Val					QARS_ENST00000414533.1_Missense_Mutation_p.I154V|QARS_ENST00000420147.2_Missense_Mutation_p.I183V	p.I165V			P47897	SYQ_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	5	830	-			165					B4DWJ2	Missense_Mutation	SNP	ENST00000306125.6	37	c.493A>G	CCDS2788.1	.	.	.	.	.	.	.	.	.	.	T	9.569	1.120444	0.20877	.	.	ENSG00000172053	ENST00000306125;ENST00000414533;ENST00000420147;ENST00000452739;ENST00000417025	T;T	0.20332	2.08;2.1	5.71	5.71	0.89125	Glutaminyl-tRNA synthetase, class Ib, non-specific RNA-binding domain 2 (1);	0.217659	0.46145	D	0.000308	T	0.16085	0.0387	N	0.13043	0.29	0.43517	D	0.995783	B;B;B	0.31040	0.305;0.008;0.008	B;B;B	0.40659	0.336;0.015;0.015	T	0.02781	-1.1111	10	0.02654	T	1	-19.2258	16.0042	0.80349	0.0:0.0:0.0:1.0	.	183;154;165	B7Z840;B4DWJ2;P47897	.;.;SYQ_HUMAN	V	165;154;183;207;165	ENSP00000307567:I165V;ENSP00000390015:I154V	ENSP00000307567:I165V	I	-	1	0	QARS	49115805	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	2.872000	0.48467	2.171000	0.68590	0.528000	0.53228	ATC		0.507	QARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345689.2	NM_005051		14	84	0	0	0	0.043863	0	14	84					C	49140801	T	C	49140801	3	2	102	1	0	0	0	0	1	0	0	0	12871	1435	50	4	1914	4	QARS	3	49140801	Missense_Mutation	SNP	T	TCGA-EJ-7792-01A-11D-2114-08	4456604	49140801	148881629	3	5658											
NOP16	51491	broad.mit.edu	37	chr5	175815433	175815433	+	Splice_Site	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ccggaaccccagccccctcaCcattcgatccgcggcgctgc	6	5	9	21	5	1	0	1	0	0	0	3	2	2	1	7	2	3	1	7	2	1	1			TCGA-EJ-7792-01A-11D-2114-08	TCGA-EJ-7792-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2903d109-d1bb-4545-a90a-81a3d8d62406	c6995bd6-51d1-4786-9c0a-e4aebe984d5f	g.chr5:175815433C>G	ENST00000389158.5	-	1	543		c.e1+1		HIGD2A_ENST00000274787.2_5'Flank|NOP16_ENST00000507413.1_Splice_Site|NOP16_ENST00000510123.1_Splice_Site|NOP16_ENST00000509257.1_Splice_Site			Q9Y3C1	NOP16_HUMAN	NOP16 nucleolar protein							intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(2)|lung(4)|ovary(1)	8						AGCCCCCTCACCATTCGATCC	0.642																																						ENST00000389158.5																			0				central_nervous_system(1)|endometrium(2)|lung(4)|ovary(1)	8						c.e1+1		NOP16 nucleolar protein							67	76	73					5																	175815433		2056	4198	6254	SO:0001630	splice_region_variant	51491					nucleolus		g.chr5:175815433C>G		CCDS43403.1, CCDS58991.1	5q35.2	2012-12-10	2012-12-10		ENSG00000048162	ENSG00000048162			26934	protein-coding gene	gene with protein product	"hypothetical protein HSPC111", "HBV pre-S2 trans-regulated protein 3"	612861	"nucleolar protein 16 homolog (yeast)", "NOP16 nucleolar protein homolog (yeast)"			10810093, 11042152	Standard	NM_001291308		Approved	HSPC111, HSPC185, LOC51491	uc003mee.4	Q9Y3C1	OTTHUMG00000163186	ENST00000389158.5:c.107+1G>C	5.37:g.175815433C>G						NOP16_ENST00000509257.1_Splice_Site|NOP16_ENST00000510123.1_Splice_Site|NOP16_ENST00000507413.1_Splice_Site				Q9Y3C1	NOP16_HUMAN			1	543	-								B4DV13|D6RGD3|Q05D05|Q6IAI6|Q8IXL5	Splice_Site	SNP	ENST00000389158.5	37		CCDS43403.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.45|19.45	3.829530|3.829530	0.71258|0.71258	.|.	.|.	ENSG00000048162|ENSG00000175414	ENST00000389158;ENST00000510123;ENST00000341213;ENST00000507413;ENST00000451293;ENST00000509257|ENST00000503175	.|.	.|.	.|.	5.05|5.05	5.05|5.05	0.67936|0.67936	.|.	.|.	.|.	.|.	.|.	.|T	.|0.76572	.|0.4006	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.79577	.|-0.1746	.|5	.|0.87932	.|D	.|0	.|.	16.7689|16.7689	0.85532|0.85532	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	.|Q	-1|58	.|.	.|ENSP00000424831:H58Q	.|H	-|+	.|3	.|2	NOP16|ARL10	175748039|175748039	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.796000|0.796000	0.44982|0.44982	5.182000|5.182000	0.65059|0.65059	2.627000|2.627000	0.88993|0.88993	0.655000|0.655000	0.94253|0.94253	.|CAC		0.642	NOP16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371963.1	NM_016391	Intron	20	88	0	0	0	0.062417	0	20	88					G	175815433	C	G	175815433	5	3	102	1	0	0	0	0	0	0	1	0	10537	521	18	5	447	5	NOP16	5	175815433	Splice_Site	SNP	C	TCGA-EJ-7792-01A-11D-2114-08		175815433	5099827	4	5659											
HDGFL1	154150	broad.mit.edu	37	chr6	22570346	22570347	+	In_Frame_Ins	INS	-	-	GGC																															agggcggcggaagcggagagINSggcggcggcggcggcggcgg																								rs370190435|rs536582109	byFrequency	TCGA-EJ-7792-01A-11D-2114-08	TCGA-EJ-7792-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2903d109-d1bb-4545-a90a-81a3d8d62406	1ea92c16-9376-49ef-9a3a-8a7f75a9eb1c	g.chr6:22570346_22570347insGGC	ENST00000230012.3	+	1	669_670	c.542_543insGGC	c.(541-546)agggcg>agGGCggcg	p.188_189insA	HDGFL1_ENST00000510882.2_In_Frame_Ins_p.188_189insA	NM_138574.2	NP_612641.2	Q5TGJ6	HDGL1_HUMAN	hepatoma derived growth factor-like 1	188	Ala-rich.|Glu-rich.									kidney(1)|large_intestine(3)|lung(7)	11	Ovarian(93;0.163)					gaagcggagagggcggcggcgg	0.767														170	0.0339457	0.0182	0.049	5008	,	,		12340	0.0159		0.0547	False		,,,				2504	0.0419					ENST00000510882.2																			0				kidney(1)|large_intestine(3)|lung(7)	11						c.(541-543)agc>aGGCgc		hepatoma derived growth factor-like 1																																				SO:0001652	inframe_insertion	154150							g.chr6:22570346_22570347insGGC	AK056824	CCDS34347.1	6p22.2	2008-02-05	2005-04-07	2005-04-07	ENSG00000112273	ENSG00000112273			21095	protein-coding gene	gene with protein product			"PWWP domain containing 1"	PWWP1			Standard	NM_138574		Approved	dJ309H15.1	uc003nds.3	Q5TGJ6	OTTHUMG00000016206	ENST00000230012.3:c.561_563dupGGC	6.37:g.22570353_22570355dupGGC	ENSP00000230012:p.Ala189_Ala190dup					HDGFL1_ENST00000230012.3_In_Frame_Ins_p.181_181S>RR	p.181_181S>RR			Q5TGJ6	HDGL1_HUMAN			1	552_553	+	Ovarian(93;0.163)		181			Ala-rich.|Glu-rich.		Q96MJ6	In_Frame_Ins	INS	ENST00000230012.3	37	c.542_543insGGC	CCDS34347.1																																																																																				0.767	HDGFL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043500.1	NM_138574		4	2						4	2	---	---	---	---	GGC	22570347	-	GGC	22570346	7	5	102	1	0	1	1	0	0	0	0	0	7019	1000	35	0	544	0	HDGFL1	6	22570346	In_Frame_Ins	INS	-	TCGA-EJ-7792-01A-11D-2114-08		22570346	148544721	5	5660											
COL12A1	1303	broad.mit.edu	37	chr6	75860932	75860932	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagtgactcaaaatctgccaCattgtatgcatgggtatcat	12	12	9	8	0	3	1	2	1	1	0	3	2	3	1	1	1	2	3	1	1	4	3			TCGA-EJ-7792-01A-11D-2114-08	TCGA-EJ-7792-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2903d109-d1bb-4545-a90a-81a3d8d62406	c6995bd6-51d1-4786-9c0a-e4aebe984d5f	g.chr6:75860932C>T	ENST00000322507.8	-	21	4381	c.4072G>A	c.(4072-4074)Gtg>Atg	p.V1358M	COL12A1_ENST00000416123.2_Missense_Mutation_p.V1358M|COL12A1_ENST00000345356.6_Missense_Mutation_p.V194M|COL12A1_ENST00000483888.2_Missense_Mutation_p.V1358M	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	1358	VWFA 3. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	collagen type XII trimer (GO:0005595)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|vesicle (GO:0031982)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)			breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						AAATCTGCCACATTGTATGCA	0.363																																						ENST00000322507.8																			0				breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						c.(4072-4074)Gtg>Atg		collagen, type XII, alpha 1							172	170	171					6																	75860932		1912	4132	6044	SO:0001583	missense	1303				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength	g.chr6:75860932C>T	U73779	CCDS43481.1, CCDS43482.1	6q12-q13	2013-02-11	2003-07-24		ENSG00000111799	ENSG00000111799		"Proteoglycans / Extracellular Matrix : Collagen proteoglycans", "Collagens", "Fibronectin type III domain containing"	2188	protein-coding gene	gene with protein product	"collagen type XII proteoglycan"	120320	"collagen, type XII, alpha 1-like"	COL12A1L		9143499	Standard	XM_006715334		Approved		uc003phs.3	Q99715	OTTHUMG00000015051	ENST00000322507.8:c.4072G>A	6.37:g.75860932C>T	ENSP00000325146:p.Val1358Met					COL12A1_ENST00000483888.2_Missense_Mutation_p.V1358M|COL12A1_ENST00000345356.6_Missense_Mutation_p.V194M|COL12A1_ENST00000416123.2_Missense_Mutation_p.V1358M	p.V1358M	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN			21	4381	-			1358			VWFA 3.		O43853|Q15955|Q5VYK1|Q5VYK2|Q71UR3|Q99716	Missense_Mutation	SNP	ENST00000322507.8	37	c.4072G>A	CCDS43482.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	27.1|27.1	4.802208|4.802208	0.90538|0.90538	.|.	.|.	ENSG00000111799|ENSG00000111799	ENST00000419671|ENST00000322507;ENST00000432784;ENST00000345356;ENST00000416123;ENST00000483888	.|T;T;T;T	.|0.80566	.|-1.39;-1.39;-1.39;-1.39	5.6|5.6	5.6|5.6	0.85130|0.85130	.|von Willebrand factor, type A (3);	.|0.000000	.|0.64402	.|D	.|0.000004	D|D	0.91257|0.91257	0.7244|0.7244	M|M	0.90425|0.90425	3.115|3.115	0.58432|0.58432	D|D	0.999996|0.999996	.|D;D	.|0.89917	.|0.973;1.0	.|D;D	.|0.97110	.|0.937;1.0	D|D	0.92376|0.92376	0.5909|0.5909	5|10	.|0.87932	.|D	.|0	.|.	19.601|19.601	0.95561|0.95561	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|194;1358	.|Q99715-2;Q99715	.|.;COCA1_HUMAN	Y|M	99|1358;1358;194;1358;1358	.|ENSP00000325146:V1358M;ENSP00000305147:V194M;ENSP00000412864:V1358M;ENSP00000421216:V1358M	.|ENSP00000325146:V1358M	C|V	-|-	2|1	0|0	COL12A1|COL12A1	75917652|75917652	1.000000|1.000000	0.71417|0.71417	0.994000|0.994000	0.49952|0.49952	0.979000|0.979000	0.70002|0.70002	7.487000|7.487000	0.81328|0.81328	2.631000|2.631000	0.89168|0.89168	0.655000|0.655000	0.94253|0.94253	TGT|GTG		0.363	COL12A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041249.3	NM_004370		25	82	0	0	0	0.034045	0	25	82					T	75860932	C	T	75860932	3	4	102	1	0	0	0	0	1	0	0	0	3669	478	17	3	5303	3	COL12A1	6	75860932	Missense_Mutation	SNP	C	TCGA-EJ-7792-01A-11D-2114-08	53290586	75860932	95254135	6	5661											
KIAA0776	23376	broad.mit.edu	37	chr6	96988523	96988523	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aaaagatgagcgaagaaggaAagcaacaggtaataaattgt	21	6	11	3	1	0	3	0	1	0	2	0	5	0	4	0	2	3	2	0	2	9	3			TCGA-EJ-7792-01A-11D-2114-08	TCGA-EJ-7792-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2903d109-d1bb-4545-a90a-81a3d8d62406	c6995bd6-51d1-4786-9c0a-e4aebe984d5f	g.chr6:96988523A>G	ENST00000369278.4	+	11	1337	c.1271A>G	c.(1270-1272)aAa>aGa	p.K424R		NM_015323.4	NP_056138.1	O94874	UFL1_HUMAN	UFM1-specific ligase 1	424					negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein ubiquitination (GO:0031397)|osteoblast differentiation (GO:0001649)|protein ufmylation (GO:0071569)|regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032434)|response to endoplasmic reticulum stress (GO:0034976)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleus (GO:0005634)	UFM1 conjugating enzyme activity (GO:0071568)										CGAAGAAGGAAAGCAACAGGT	0.328																																						ENST00000369278.4																			0											c.(1270-1272)aAa>aGa		UFM1-specific ligase 1							65	65	65					6																	96988523		2203	4295	6498	SO:0001583	missense	23376				negative regulation of NF-kappaB transcription factor activity|negative regulation of protein ubiquitination|protein ufmylation	endoplasmic reticulum|nucleus	protein binding|UFM1 conjugating enzyme activity	g.chr6:96988523A>G	BC036379	CCDS5034.1	6q16.3	2011-08-18	2011-08-18	2011-08-18	ENSG00000014123	ENSG00000014123			23039	protein-coding gene	gene with protein product	"novel LZAP-binding protein", "Regulator of CDK5RAP3 and DDRGK1"	613372	"KIAA0776"	KIAA0776		20018847, 20164180, 20228063, 20531390	Standard	NM_015323		Approved	NLBP, Maxer, RCAD	uc003por.3	O94874	OTTHUMG00000015238	ENST00000369278.4:c.1271A>G	6.37:g.96988523A>G	ENSP00000358283:p.Lys424Arg						p.K424R	NM_015323.4	NP_056138.1	O94874	UFL1_HUMAN			11	1337	+			424					A0PJ53|B4DJ57|C0H5X5|Q8N765|Q9NTQ0	Missense_Mutation	SNP	ENST00000369278.4	37	c.1271A>G	CCDS5034.1	.	.	.	.	.	.	.	.	.	.	A	18.38	3.612442	0.66672	.	.	ENSG00000014123	ENST00000369278	T	0.55234	0.53	6.16	5.01	0.66863	.	0.040056	0.85682	N	0.000000	T	0.41534	0.1163	M	0.83603	2.65	0.58432	D	0.999997	P	0.48503	0.911	B	0.41466	0.358	T	0.44544	-0.9321	10	0.30078	T	0.28	-18.8363	11.5485	0.50706	0.931:0.0:0.069:0.0	.	424	O94874	UFL1_HUMAN	R	424	ENSP00000358283:K424R	ENSP00000358283:K424R	K	+	2	0	KIAA0776	97095244	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	6.008000	0.70739	1.160000	0.42584	0.528000	0.53228	AAA		0.328	UFL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041557.1	NM_015323		3	13	0	0	0	0.009096	0	3	13					G	96988523	A	G	96988523	3	3	102	1	0	0	0	0	1	0	0	0	8193	14	1	4	1313	4	KIAA0776	6	96988523	Missense_Mutation	SNP	A	TCGA-EJ-7792-01A-11D-2114-08	21127591	96988523	74126544	7	5662											
RP1	6101	broad.mit.edu	37	chr8	55542393	55542393	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	acaaaatcttattgataatgCcattggtgatatatttgatc	14	16	6	5	0	1	3	0	3	1	0	2	3	1	3	1	1	1	0	1	1	6	7			TCGA-EJ-7792-01A-11D-2114-08	TCGA-EJ-7792-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2903d109-d1bb-4545-a90a-81a3d8d62406	c6995bd6-51d1-4786-9c0a-e4aebe984d5f	g.chr8:55542393C>T	ENST00000220676.1	+	4	6099	c.5951C>T	c.(5950-5952)gCc>gTc	p.A1984V		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	1984					axoneme assembly (GO:0035082)|cellular response to light stimulus (GO:0071482)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|photoreceptor cell outer segment organization (GO:0035845)|phototransduction, visible light (GO:0007603)|retinal cone cell development (GO:0046549)|retinal rod cell development (GO:0046548)|visual perception (GO:0007601)	axoneme (GO:0005930)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)	microtubule binding (GO:0008017)			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			ATTGATAATGCCATTGGTGAT	0.308																																					Colon(91;1014 1389 7634 14542 40420)	ENST00000220676.1																			0				NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169						c.(5950-5952)gCc>gTc		retinitis pigmentosa 1 (autosomal dominant)							52	57	55					8																	55542393		2196	4295	6491	SO:0001583	missense	6101				axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding	g.chr8:55542393C>T	AF146592	CCDS6160.1	8q12.1	2013-01-08				ENSG00000104237			10263	protein-coding gene	gene with protein product		603937				1783394	Standard	NM_006269		Approved	DCDC4A	uc003xsd.1	P56715		ENST00000220676.1:c.5951C>T	8.37:g.55542393C>T	ENSP00000220676:p.Ala1984Val						p.A1984V	NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)		4	6099	+		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	1984						Missense_Mutation	SNP	ENST00000220676.1	37	c.5951C>T	CCDS6160.1	.	.	.	.	.	.	.	.	.	.	C	1.594	-0.528338	0.04112	.	.	ENSG00000104237	ENST00000220676	T	0.20200	2.09	5.91	1.97	0.26223	.	0.596032	0.14953	N	0.288787	T	0.14830	0.0358	L	0.43152	1.355	0.09310	N	1	B	0.17852	0.024	B	0.12156	0.007	T	0.26744	-1.0094	10	0.33940	T	0.23	.	3.6531	0.08210	0.2861:0.4472:0.0:0.2667	.	1984	P56715	RP1_HUMAN	V	1984	ENSP00000220676:A1984V	ENSP00000220676:A1984V	A	+	2	0	RP1	55704946	0.002000	0.14202	0.005000	0.12908	0.163000	0.22366	0.446000	0.21694	0.072000	0.16694	-0.169000	0.13324	GCC		0.308	RP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378532.2	NM_006269		6	19	0	0	0	0.021553	0	6	19					T	55542393	C	T	55542393	3	4	102	1	0	0	0	0	1	0	0	0	13532	739	26	3	5961	3	RP1	8	55542393	Missense_Mutation	SNP	C	TCGA-EJ-7792-01A-11D-2114-08		55542393	90821629	8	5663											
MLLT3	4300	broad.mit.edu	37	chr9	20448194	20448194	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttagcttttcacagcggaggTgattcactggtggatggcct	7	13	13	8	1	2	1	2	1	0	0	2	3	2	3	1	5	2	1	1	5	1	4			TCGA-EJ-7792-01A-11D-2114-08	TCGA-EJ-7792-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2903d109-d1bb-4545-a90a-81a3d8d62406	c6995bd6-51d1-4786-9c0a-e4aebe984d5f	g.chr9:20448194T>C	ENST00000380338.4	-	4	633	c.347A>G	c.(346-348)cAc>cGc	p.H116R	MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000475957.1_Intron|MLLT3_ENST00000429426.2_Missense_Mutation_p.H113R	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	116					anterior/posterior pattern specification (GO:0009952)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|regulation of transcription, DNA-templated (GO:0006355)|segment specification (GO:0007379)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)				central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		ACAGCGGAGGTGATTCACTGG	0.438			T	MLL	ALL																																	ENST00000380338.4				Dom	yes		9	9p22	4300	T	"myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 (AF9)"			L	MLL		ALL		0				central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66						c.(346-348)cAc>cGc		myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3							144	145	145					9																	20448194		2203	4300	6503	SO:0001583	missense	4300				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	g.chr9:20448194T>C	L13744	CCDS6494.1	9p22	2008-02-05	2001-11-28		ENSG00000171843	ENSG00000171843			7136	protein-coding gene	gene with protein product		159558	"myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 3"			8506309, 8414510	Standard	NM_001286691		Approved	AF-9, AF9, YEATS3	uc003zoe.2	P42568	OTTHUMG00000019650	ENST00000380338.4:c.347A>G	9.37:g.20448194T>C	ENSP00000369695:p.His116Arg					MLLT3_ENST00000475957.1_Intron|MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000429426.2_Missense_Mutation_p.H113R	p.H116R	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN		GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)	4	633	-			116					B1AMQ2|B2R7B3|B7Z755|D3DRJ8|Q8IVB0	Missense_Mutation	SNP	ENST00000380338.4	37	c.347A>G	CCDS6494.1	.	.	.	.	.	.	.	.	.	.	T	25.2	4.612752	0.87258	.	.	ENSG00000171843	ENST00000380338;ENST00000429426;ENST00000540751	.	.	.	5.47	5.47	0.80525	.	0.000000	0.85682	D	0.000000	T	0.74604	0.3738	L	0.58101	1.795	0.80722	D	1	B;D;D	0.71674	0.23;0.983;0.998	B;P;D	0.65573	0.118;0.884;0.936	T	0.75892	-0.3157	9	0.51188	T	0.08	-10.2068	15.5261	0.75910	0.0:0.0:0.0:1.0	.	116;113;116	B2R7B3;B7Z755;P42568	.;.;AF9_HUMAN	R	116;113;155	.	ENSP00000369695:H116R	H	-	2	0	MLLT3	20438194	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.235000	0.72332	2.067000	0.61834	0.459000	0.35465	CAC		0.438	MLLT3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051872.1	NM_004529		25	109	0	0	0	0.099896	0	25	109					C	20448194	T	C	20448194	3	2	102	1	0	0	0	0	1	0	0	0	9628	1696	59	4	1391	4	MLLT3	9	20448194	Missense_Mutation	SNP	T	TCGA-EJ-7792-01A-11D-2114-08		20448194	120765237	9	5664											
PTPN3	5774	broad.mit.edu	37	chr9	112168897	112168897	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcttaggaatgcaggtgtccGcctgggtggtggggaaaagc	8	8	18	7	1	0	0	0	0	0	0	1	2	1	2	2	6	2	2	2	6	4	1			TCGA-EJ-7792-01A-11D-2114-08	TCGA-EJ-7792-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2903d109-d1bb-4545-a90a-81a3d8d62406	c6995bd6-51d1-4786-9c0a-e4aebe984d5f	g.chr9:112168897G>A	ENST00000374541.2	-	18	1741	c.1637C>T	c.(1636-1638)gCg>gTg	p.A546V	PTPN3_ENST00000412145.1_Splice_Site_p.A415V|PTPN3_ENST00000262539.3_Splice_Site_p.A392V|PTPN3_ENST00000394827.3_Splice_Site_p.A14V|PTPN3_ENST00000446349.1_Splice_Site_p.A370V	NM_001145368.1|NM_002829.3	NP_001138840.1|NP_002820.3	P26045	PTN3_HUMAN	protein tyrosine phosphatase, non-receptor type 3	546	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				negative regulation of membrane protein ectodomain proteolysis (GO:0051045)|negative regulation of mitotic cell cycle (GO:0045930)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of membrane depolarization during action potential (GO:0098902)|regulation of sodium ion transmembrane transporter activity (GO:2000649)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoskeleton (GO:0005856)	ATPase binding (GO:0051117)|phosphotyrosine binding (GO:0001784)|protein tyrosine phosphatase activity (GO:0004725)|sodium channel regulator activity (GO:0017080)			breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						GCAGGTGTCCGCCTGGGTGGT	0.527																																						ENST00000412145.1																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						c.e13-1		protein tyrosine phosphatase, non-receptor type 3							154	139	144					9																	112168897		2203	4300	6503	SO:0001630	splice_region_variant	0				negative regulation of membrane protein ectodomain proteolysis|negative regulation of mitotic cell cycle	cytoplasm|cytoskeleton|internal side of plasma membrane	ATPase binding|cytoskeletal protein binding|phosphotyrosine binding|protein tyrosine phosphatase activity	g.chr9:112168897G>A		CCDS6776.1, CCDS48000.1, CCDS48001.1	9q31	2011-06-09			ENSG00000070159	ENSG00000070159		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"	9655	protein-coding gene	gene with protein product		176877				1648725	Standard	NM_002829		Approved	PTPH1	uc004bed.2	P26045	OTTHUMG00000020475	ENST00000374541.2:c.1636-1C>T	9.37:g.112168897G>A						PTPN3_ENST00000446349.1_Splice_Site_p.A370_splice|PTPN3_ENST00000394827.3_Splice_Site_p.A14_splice|PTPN3_ENST00000262539.3_Splice_Site_p.A392_splice|PTPN3_ENST00000374541.2_Splice_Site_p.A546_splice	p.A415_splice	NM_001145369.1|NM_001145371.1	NP_001138841.1|NP_001138843.1	P26045	PTN3_HUMAN			13	3797	-			546					A0AUW9|E7EN99|E9PGU7	Splice_Site	SNP	ENST00000374541.2	37	c.1242_splice	CCDS6776.1	.	.	.	.	.	.	.	.	.	.	G	37	6.038299	0.97226	.	.	ENSG00000070159	ENST00000394831;ENST00000412145;ENST00000446349;ENST00000374541;ENST00000394827;ENST00000262539	T;T;T;T;T	0.37411	1.2;1.2;1.2;1.2;1.2	5.74	5.74	0.90152	PDZ/DHR/GLGF (4);	0.000000	0.85682	D	0.000000	T	0.75620	0.3874	H	0.97214	3.96	0.80722	D	1	D;D;D	0.89917	1.0;0.994;1.0	D;P;D	0.75484	0.97;0.899;0.986	D	0.84339	0.0526	10	0.87932	D	0	.	19.9077	0.97014	0.0:0.0:1.0:0.0	.	392;501;546	B7Z3H5;B7Z9V1;P26045	.;.;PTN3_HUMAN	V	546;415;370;546;14;392	ENSP00000416654:A415V;ENSP00000395384:A370V;ENSP00000363667:A546V;ENSP00000378304:A14V;ENSP00000262539:A392V	ENSP00000262539:A392V	A	-	2	0	PTPN3	111208718	1.000000	0.71417	0.966000	0.40874	0.984000	0.73092	9.469000	0.97679	2.712000	0.92718	0.561000	0.74099	GCG		0.527	PTPN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053598.4		Missense_Mutation	23	92	0	0	0	0.076483	0	23	92					A	112168897	G	A	112168897	5	1	102	1	0	0	0	0	0	0	1	0	12789	1101	38	1	1140	1	PTPN3	9	112168897	Splice_Site	SNP	G	TCGA-EJ-7792-01A-11D-2114-08	91720703	112168897	29044534	10	5665											
TCN1	6947	broad.mit.edu	37	chr11	59620777	59620777	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgatatagggcccccatgagCgctcctccattgtgaaactg	9	10	10	12	1	0	3	0	3	0	0	2	3	2	3	4	1	2	1	4	1	3	3	rs371448135		TCGA-EJ-7792-01A-11D-2114-08	TCGA-EJ-7792-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2903d109-d1bb-4545-a90a-81a3d8d62406	c6995bd6-51d1-4786-9c0a-e4aebe984d5f	g.chr11:59620777C>T	ENST00000257264.3	-	8	1243	c.1139G>A	c.(1138-1140)cGc>cAc	p.R380H	TCN1_ENST00000532419.1_5'Flank	NM_001062.3	NP_001053.2	P20061	TCO1_HUMAN	transcobalamin I (vitamin B12 binding protein, R binder family)	380	Globular C-terminal beta domain.				cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|cobalt ion transport (GO:0006824)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	cobalamin binding (GO:0031419)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(15)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29		all_epithelial(135;0.198)			Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	CCCCCATGAGCGCTCCTCCAT	0.458																																						ENST00000257264.3																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(15)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29						c.(1138-1140)cGc>cAc		transcobalamin I (vitamin B12 binding protein, R binder family)	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	C	HIS/ARG	1,4401	2.1+/-5.4	0,1,2200	102	103	102		1139	0.6	0	11		102	0,8590		0,0,4295	no	missense	TCN1	NM_001062.3	29	0,1,6495	TT,TC,CC		0.0,0.0227,0.0077	benign	380/434	59620777	1,12991	2201	4295	6496	SO:0001583	missense	6947				cobalamin metabolic process|cobalamin transport|cobalt ion transport	extracellular region	cobalamin binding	g.chr11:59620777C>T	J05068	CCDS7978.1	11q11-q12	2008-07-21			ENSG00000134827	ENSG00000134827			11652	protein-coding gene	gene with protein product	"haptocorin", "haptocorrin"	189905					Standard	NM_001062		Approved	TCI, TC1	uc001noj.2	P20061	OTTHUMG00000167400	ENST00000257264.3:c.1139G>A	11.37:g.59620777C>T	ENSP00000257264:p.Arg380His						p.R380H	NM_001062.3	NP_001053.2	P20061	TCO1_HUMAN			8	1243	-		all_epithelial(135;0.198)	380					A8KAC5|Q8WV77	Missense_Mutation	SNP	ENST00000257264.3	37	c.1139G>A	CCDS7978.1	.	.	.	.	.	.	.	.	.	.	C	11.69	1.712534	0.30322	2.27E-4	0.0	ENSG00000134827	ENST00000257264	T	0.29655	1.56	4.75	0.563	0.17296	.	0.918437	0.09038	N	0.857726	T	0.15349	0.0370	N	0.14661	0.345	0.09310	N	1	B	0.28055	0.199	B	0.22386	0.039	T	0.26292	-1.0107	10	0.30854	T	0.27	-18.5463	5.4242	0.16417	0.0:0.5068:0.3095:0.1837	.	380	P20061	TCO1_HUMAN	H	380	ENSP00000257264:R380H	ENSP00000257264:R380H	R	-	2	0	TCN1	59377353	0.000000	0.05858	0.000000	0.03702	0.063000	0.16089	-1.141000	0.03207	0.086000	0.17137	0.650000	0.86243	CGC		0.458	TCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394503.1	NM_001062		22	100	0	0	0	0.055883	0	22	100					T	59620777	C	T	59620777	3	4	102	1	0	0	0	0	1	0	0	0	15703	768	27	1	170	1	TCN1	11	59620777	Missense_Mutation	SNP	C	TCGA-EJ-7792-01A-11D-2114-08		59620777	75385739	11	5666											
CMKLR1	1240	broad.mit.edu	37	chr12	108686570	108686570	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tgatgatcaccagaccattgCccagaatcccgaggaagcag	13	6	10	12	1	1	4	1	2	0	2	2	6	2	5	4	1	2	1	4	1	2	1			TCGA-EJ-7792-01A-11D-2114-08	TCGA-EJ-7792-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2903d109-d1bb-4545-a90a-81a3d8d62406	c6995bd6-51d1-4786-9c0a-e4aebe984d5f	g.chr12:108686570C>T	ENST00000312143.7	-	3	533	c.170G>A	c.(169-171)gGc>gAc	p.G57D	CMKLR1_ENST00000397688.2_Missense_Mutation_p.G55D|CMKLR1_ENST00000550402.1_Missense_Mutation_p.G57D|CMKLR1_ENST00000552995.1_Missense_Mutation_p.G55D|CMKLR1_ENST00000412676.1_Missense_Mutation_p.G57D	NM_001142344.1|NM_004072.2	NP_001135816.1|NP_004063.1	Q99788	CML1_HUMAN	chemokine-like receptor 1	57					chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of macrophage chemotaxis (GO:0010759)|regulation of calcium-mediated signaling (GO:0050848)|skeletal system development (GO:0001501)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	chemokine receptor activity (GO:0004950)|G-protein coupled receptor activity (GO:0004930)|receptor activity (GO:0004872)			endometrium(5)|large_intestine(3)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	37						CAGACCATTGCCCAGAATCCC	0.517																																						ENST00000312143.7																			0				endometrium(5)|large_intestine(3)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	37						c.(169-171)gGc>gAc		chemokine-like receptor 1							102	101	101					12																	108686570		2013	4178	6191	SO:0001583	missense	1240				chemotaxis|immune response|negative regulation of interleukin-12 production|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage chemotaxis|regulation of calcium-mediated signaling|skeletal system development	integral to plasma membrane	chemokine receptor activity	g.chr12:108686570C>T	U79526	CCDS41829.1, CCDS44965.1	12q23.3	2013-07-29			ENSG00000174600	ENSG00000174600		"GPCR / Class A : Resolvin receptors"	2121	protein-coding gene	gene with protein product	"resolvin E1 receptor", "chemerin receptor"	602351					Standard	NM_004072		Approved	RVER1	uc009zuw.3	Q99788	OTTHUMG00000169576	ENST00000312143.7:c.170G>A	12.37:g.108686570C>T	ENSP00000311733:p.Gly57Asp					CMKLR1_ENST00000552995.1_Missense_Mutation_p.G55D|CMKLR1_ENST00000412676.1_Missense_Mutation_p.G57D|CMKLR1_ENST00000550402.1_Missense_Mutation_p.G57D|CMKLR1_ENST00000397688.2_Missense_Mutation_p.G55D	p.G57D	NM_001142344.1|NM_004072.2	NP_001135816.1|NP_004063.1	Q99788	CML1_HUMAN			3	533	-			57					A8K6Y5|O75748|Q3KP37|Q5U0H0|Q99789	Missense_Mutation	SNP	ENST00000312143.7	37	c.170G>A	CCDS44965.1	.	.	.	.	.	.	.	.	.	.	c	22.1	4.249076	0.80024	.	.	ENSG00000174600	ENST00000312143;ENST00000412676;ENST00000397688;ENST00000552995;ENST00000550402;ENST00000550573;ENST00000549466	T;T;T;T;T;T;T	0.57107	0.42;0.42;0.42;0.42;0.42;0.42;0.42	5.0	5.0	0.66597	GPCR, rhodopsin-like superfamily (1);	0.229220	0.44483	D	0.000452	T	0.81024	0.4737	H	0.95260	3.645	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.87240	0.2266	10	0.87932	D	0	.	16.8651	0.86027	0.0:1.0:0.0:0.0	.	57	Q99788	CML1_HUMAN	D	57;57;55;55;57;57;57	ENSP00000311733:G57D;ENSP00000401293:G57D;ENSP00000380803:G55D;ENSP00000447579:G55D;ENSP00000449716:G57D;ENSP00000448925:G57D;ENSP00000448362:G57D	ENSP00000311733:G57D	G	-	2	0	CMKLR1	107210700	1.000000	0.71417	1.000000	0.80357	0.689000	0.40095	7.779000	0.85648	2.328000	0.79073	0.472000	0.43445	GGC		0.517	CMKLR1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000404867.1			7	56	0	0	0	0.038147	0	7	56					T	108686570	C	T	108686570	3	4	102	1	0	0	0	0	1	0	0	0	3579	739	26	3	955	3	CMKLR1	12	108686570	Missense_Mutation	SNP	C	TCGA-EJ-7792-01A-11D-2114-08		108686570	25165325	12	5667											
OR11H6	122748	broad.mit.edu	37	chr14	20692287	20692287	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atcagttatggcttatgatcGgtacctggccatctgtcgtc	7	14	10	10	2	2	1	1	1	1	0	5	1	2	1	2	3	1	3	2	3	3	3	rs146448571		TCGA-EJ-7792-01A-11D-2114-08	TCGA-EJ-7792-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2903d109-d1bb-4545-a90a-81a3d8d62406	c6995bd6-51d1-4786-9c0a-e4aebe984d5f	g.chr14:20692287G>A	ENST00000315519.2	+	1	497	c.419G>A	c.(418-420)cGg>cAg	p.R140Q		NM_001004480.1	NP_001004480.1	Q8NGC7	O11H6_HUMAN	olfactory receptor, family 11, subfamily H, member 6	140						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R140Q(1)		cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(13)|ovary(2)|prostate(1)|skin(2)	29	all_cancers(95;0.00108)		Epithelial(56;1.75e-06)|all cancers(55;1.22e-05)	GBM - Glioblastoma multiforme(265;0.0143)		GCTTATGATCGGTACCTGGCC	0.428																																						ENST00000315519.2																			1	Substitution - Missense(1)	p.R140Q(1)	endometrium(1)	cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(13)|ovary(2)|prostate(1)|skin(2)	29						c.(418-420)cGg>cAg		olfactory receptor, family 11, subfamily H, member 6		G	GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	160	157	158		419	5	1	14	dbSNP_134	158	0,8600		0,0,4300	no	missense	OR11H6	NM_001004480.1	43	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	140/331	20692287	1,13005	2203	4300	6503	SO:0001583	missense	122748				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20692287G>A		CCDS32033.1	14q11.2	2013-09-24			ENSG00000176219	ENSG00000176219		"GPCR / Class A : Olfactory receptors"	15349	protein-coding gene	gene with protein product							Standard	NM_001004480		Approved		uc010tlc.2	Q8NGC7	OTTHUMG00000170850	ENST00000315519.2:c.419G>A	14.37:g.20692287G>A	ENSP00000319071:p.Arg140Gln						p.R140Q	NM_001004480.1	NP_001004480.1	Q8NGC7	O11H6_HUMAN	Epithelial(56;1.75e-06)|all cancers(55;1.22e-05)	GBM - Glioblastoma multiforme(265;0.0143)	1	497	+	all_cancers(95;0.00108)		140					Q6IF08	Missense_Mutation	SNP	ENST00000315519.2	37	c.419G>A	CCDS32033.1	.	.	.	.	.	.	.	.	.	.	G	23.3	4.403002	0.83230	2.27E-4	0.0	ENSG00000176219	ENST00000315519	T	0.76968	-1.06	4.97	4.97	0.65823	GPCR, rhodopsin-like superfamily (1);	0.000000	0.46758	D	0.000275	T	0.81955	0.4932	M	0.90309	3.105	0.36994	D	0.894939	P	0.46656	0.882	B	0.40477	0.33	D	0.88855	0.3322	10	0.62326	D	0.03	.	15.7549	0.78015	0.0:0.0:1.0:0.0	.	140	Q8NGC7	O11H6_HUMAN	Q	140	ENSP00000319071:R140Q	ENSP00000319071:R140Q	R	+	2	0	OR11H6	19762127	0.966000	0.33281	1.000000	0.80357	0.901000	0.52897	5.505000	0.66981	2.570000	0.86706	0.442000	0.29010	CGG		0.428	OR11H6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410676.1			6	83	0	0	0	0.02938	0	6	83					A	20692287	G	A	20692287	3	1	102	1	0	0	0	0	1	0	0	0	10929	1116	39	2	421	2	OR11H6	14	20692287	Missense_Mutation	SNP	G	TCGA-EJ-7792-01A-11D-2114-08		20692287	86657253	13	5668											
ITPK1	3705	broad.mit.edu	37	chr14	93412807	93412807	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cccggatgacctcgtcgctcGgccgctcgaacacgccctcg	5	6	11	19	8	0	1	0	1	0	0	5	3	0	2	4	2	1	2	4	2	1	0			TCGA-EJ-7792-01A-11D-2114-08	TCGA-EJ-7792-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2903d109-d1bb-4545-a90a-81a3d8d62406	c6995bd6-51d1-4786-9c0a-e4aebe984d5f	g.chr14:93412807G>C	ENST00000267615.6	-	10	943	c.770C>G	c.(769-771)cCg>cGg	p.P257R	ITPK1_ENST00000556954.1_5'UTR|ITPK1_ENST00000354313.3_Missense_Mutation_p.P257R|ITPK1_ENST00000555495.1_Missense_Mutation_p.P138R|ITPK1_ENST00000556603.2_Missense_Mutation_p.P257R			Q13572	ITPK1_HUMAN	inositol-tetrakisphosphate 1-kinase	257	ATP-grasp. {ECO:0000255|PROSITE- ProRule:PRU00409}.				blood coagulation (GO:0007596)|dephosphorylation (GO:0016311)|inositol phosphate metabolic process (GO:0043647)|inositol trisphosphate metabolic process (GO:0032957)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	ATP binding (GO:0005524)|catalytic activity (GO:0003824)|inositol tetrakisphosphate 1-kinase activity (GO:0047325)|inositol-1,3,4,5,6-pentakisphosphate 1-phosphatase activity (GO:0052825)|inositol-1,3,4,6-tetrakisphosphate 1-phosphatase activity (GO:0052831)|inositol-1,3,4,6-tetrakisphosphate 6-phosphatase activity (GO:0052830)|inositol-1,3,4-trisphosphate 5-kinase activity (GO:0052726)|inositol-1,3,4-trisphosphate 6-kinase activity (GO:0052725)|inositol-3,4,6-trisphosphate 1-kinase activity (GO:0052835)|isomerase activity (GO:0016853)|magnesium ion binding (GO:0000287)			endometrium(1)|large_intestine(3)|lung(6)|ovary(1)	11		all_cancers(154;0.077)|all_epithelial(191;0.247)		Epithelial(152;0.124)|all cancers(159;0.169)		CTCGTCGCTCGGCCGCTCGAA	0.627																																						ENST00000267615.6																			0				endometrium(1)|large_intestine(3)|lung(6)|ovary(1)	11						c.(769-771)cCg>cGg		inositol-tetrakisphosphate 1-kinase							76	68	70					14																	93412807		2203	4299	6502	SO:0001583	missense	3705				blood coagulation|inositol trisphosphate metabolic process|signal transduction	cytosol	ATP binding|hydrolase activity|inositol tetrakisphosphate 1-kinase activity|inositol-1,3,4-trisphosphate 5/6-kinase activity|isomerase activity|ligase activity|magnesium ion binding	g.chr14:93412807G>C	U51336	CCDS9907.1, CCDS45157.1	14q32.12	2012-08-16	2011-04-28		ENSG00000100605	ENSG00000100605	2.7.1.134		6177	protein-coding gene	gene with protein product		601838	"inositol 1,3,4-triphosphate 5/6 kinase"			8662638, 11042108	Standard	NM_014216		Approved		uc001ybh.3	Q13572	OTTHUMG00000171226	ENST00000267615.6:c.770C>G	14.37:g.93412807G>C	ENSP00000267615:p.Pro257Arg					ITPK1_ENST00000354313.3_Missense_Mutation_p.P257R|ITPK1_ENST00000556603.2_Missense_Mutation_p.P257R|ITPK1_ENST00000556954.1_5'UTR|ITPK1_ENST00000555495.1_Missense_Mutation_p.P138R	p.P257R			Q13572	ITPK1_HUMAN		Epithelial(152;0.124)|all cancers(159;0.169)	10	943	-		all_cancers(154;0.077)|all_epithelial(191;0.247)	257			ATP-grasp.		Q9BTL6|Q9H2E7	Missense_Mutation	SNP	ENST00000267615.6	37	c.770C>G	CCDS9907.1	.	.	.	.	.	.	.	.	.	.	g	15.54	2.862492	0.51482	.	.	ENSG00000100605	ENST00000354313;ENST00000405174;ENST00000556603;ENST00000555495;ENST00000267615;ENST00000311458	T	0.07800	3.16	5.25	4.37	0.52481	ATP-grasp fold (1);	0.000000	0.85682	D	0.000000	T	0.36276	0.0961	M	0.89601	3.045	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.48317	-0.9046	10	0.72032	D	0.01	-5.5281	15.4116	0.74929	0.0:0.0:0.8596:0.1404	.	257;257	Q13572;Q13572-2	ITPK1_HUMAN;.	R	257;287;257;138;257;257	ENSP00000346272:P257R	ENSP00000267615:P257R	P	-	2	0	ITPK1	92482560	1.000000	0.71417	0.776000	0.31678	0.001000	0.01503	6.735000	0.74806	1.231000	0.43661	-0.217000	0.12591	CCG		0.627	ITPK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412421.2	NM_014216		10	46	0	0	0	0.069234	0	10	46					C	93412807	G	C	93412807	3	2	102	1	0	0	0	0	1	0	0	0	7916	1116	39	5	530	5	ITPK1	14	93412807	Missense_Mutation	SNP	G	TCGA-EJ-7792-01A-11D-2114-08	72720520	93412807	13936733	14	5669											
MOAP1	64112	broad.mit.edu	37	chr14	93649656	93649656	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggccatcctctggcagattaAgctctctgcgaattgttttg	7	14	10	10	1	2	1	0	0	2	1	4	2	3	1	2	2	2	3	2	2	2	4			TCGA-EJ-7792-01A-11D-2114-08	TCGA-EJ-7792-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2903d109-d1bb-4545-a90a-81a3d8d62406	c6995bd6-51d1-4786-9c0a-e4aebe984d5f	g.chr14:93649656A>C	ENST00000556883.1	-	2	1416	c.932T>G	c.(931-933)cTt>cGt	p.L311R	MOAP1_ENST00000298894.4_Missense_Mutation_p.L311R|TMEM251_ENST00000415050.2_5'Flank|RP11-371E8.4_ENST00000557574.1_5'Flank|TMEM251_ENST00000283534.4_5'Flank			Q96BY2	MOAP1_HUMAN	modulator of apoptosis 1	311					apoptotic signaling pathway (GO:0097190)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|positive regulation of apoptotic process (GO:0043065)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:0001844)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2)	13		all_cancers(154;0.00528)|Acute lymphoblastic leukemia(33;0.0497)|all_epithelial(191;0.125)|all_neural(303;0.13)		Epithelial(152;0.178)|all cancers(159;0.2)|COAD - Colon adenocarcinoma(157;0.204)		tggcagattaagctctctgcg	0.517																																						ENST00000556883.1																			0				central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2)	13						c.(931-933)cTt>cGt		modulator of apoptosis 1							101	102	102					14																	93649656		2203	4300	6503	SO:0001583	missense	64112				activation of caspase activity|apoptotic nuclear change	cytoplasm	protein homodimerization activity	g.chr14:93649656A>C	BC015044	CCDS9908.1	14q32.12	2012-02-09			ENSG00000165943	ENSG00000165943		"Paraneoplastic Ma antigens"	16658	protein-coding gene	gene with protein product	"paraneoplastic Ma antigen family member 4"	609485				11060313	Standard	NM_022151		Approved	MAP-1, PNMA4	uc001ybj.3	Q96BY2	OTTHUMG00000169184	ENST00000556883.1:c.932T>G	14.37:g.93649656A>C	ENSP00000451594:p.Leu311Arg					MOAP1_ENST00000298894.4_Missense_Mutation_p.L311R	p.L311R			Q96BY2	MOAP1_HUMAN		Epithelial(152;0.178)|all cancers(159;0.2)|COAD - Colon adenocarcinoma(157;0.204)	2	1416	-		all_cancers(154;0.00528)|Acute lymphoblastic leukemia(33;0.0497)|all_epithelial(191;0.125)|all_neural(303;0.13)	311					B2RDF6|Q9H833|Q9HAS1	Missense_Mutation	SNP	ENST00000556883.1	37	c.932T>G	CCDS9908.1	.	.	.	.	.	.	.	.	.	.	A	4.633	0.117744	0.08881	.	.	ENSG00000165943	ENST00000298894;ENST00000556883	T;T	0.10005	2.92;2.92	3.36	2.21	0.28008	.	.	.	.	.	T	0.21718	0.0523	L	0.58810	1.83	0.09310	N	1	D	0.76494	0.999	D	0.91635	0.999	T	0.14476	-1.0471	9	0.19147	T	0.46	-0.4678	5.4098	0.16342	0.8713:0.0:0.1287:0.0	.	311	Q96BY2	MOAP1_HUMAN	R	311	ENSP00000298894:L311R;ENSP00000451594:L311R	ENSP00000298894:L311R	L	-	2	0	MOAP1	92719409	0.001000	0.12720	0.002000	0.10522	0.235000	0.25334	0.965000	0.29319	0.679000	0.31345	0.529000	0.55759	CTT		0.517	MOAP1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412685.1			16	97	0	0	0	0.038395	0	16	97					C	93649656	A	C	93649656	3	2	102	1	0	0	0	0	1	0	0	0	9680	72	3	5	127	5	MOAP1	14	93649656	Missense_Mutation	SNP	A	TCGA-EJ-7792-01A-11D-2114-08	236849	93649656	13699884	15	5670											
TRIP10	9322	broad.mit.edu	37	chr19	6743805	6743805	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctgcagcgcttcaaccgagaCcaagcccacttctatttttc	9	11	6	15	2	2	1	1	0	1	1	3	2	2	1	3	0	4	2	3	0	3	5			TCGA-EJ-7792-01A-11D-2114-08	TCGA-EJ-7792-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2903d109-d1bb-4545-a90a-81a3d8d62406	c6995bd6-51d1-4786-9c0a-e4aebe984d5f	g.chr19:6743805C>T	ENST00000313244.9	+	7	635	c.600C>T	c.(598-600)gaC>gaT	p.D200D	TRIP10_ENST00000600428.1_Silent_p.D92D|TRIP10_ENST00000596758.1_Silent_p.D200D|TRIP10_ENST00000313285.8_Silent_p.D200D			Q15642	CIP4_HUMAN	thyroid hormone receptor interactor 10	200	F-BAR domain.				actin cytoskeleton organization (GO:0030036)|cell communication (GO:0007154)|endocytosis (GO:0006897)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|lysosome (GO:0005764)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)|lipid binding (GO:0008289)			NS(1)|breast(1)|endometrium(1)|large_intestine(1)|liver(2)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	16						TCAACCGAGACCAAGCCCACT	0.507																																						ENST00000600428.1																			0				NS(1)|breast(1)|endometrium(1)|large_intestine(1)|liver(2)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	16						c.(274-276)gaC>gaT		thyroid hormone receptor interactor 10							181	168	172					19																	6743805		2203	4300	6503	SO:0001819	synonymous_variant	9322				actin cytoskeleton organization|cell communication|endocytosis|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell cortex|cell projection|cytoskeleton|cytosol|Golgi apparatus|lysosome|perinuclear region of cytoplasm|phagocytic cup	GTPase activator activity|identical protein binding|lipid binding	g.chr19:6743805C>T	AB072596	CCDS12172.1, CCDS74271.1, CCDS74272.1	19p13.3	2008-02-05			ENSG00000125733	ENSG00000125733			12304	protein-coding gene	gene with protein product	"Cdc42-interacting protein"	604504	"salt tolerator"	STOT		7776974, 9210375, 11294612	Standard	XM_005259683		Approved	STP, HSTP, CIP4	uc002mfr.3	Q15642	OTTHUMG00000150255	ENST00000313244.9:c.600C>T	19.37:g.6743805C>T						TRIP10_ENST00000313244.9_Silent_p.D200D|TRIP10_ENST00000313285.8_Silent_p.D200D|TRIP10_ENST00000596758.1_Silent_p.D200D	p.D92D			Q15642	CIP4_HUMAN			7	922	+			200			Induction of membrane tubulation.|Required for podosome formation and interaction with AKAP9 and microtubules.|Required for translocation to the plasma membrane in response to insulin (By similarity).		B2R8A6|B7WP22|D6W645|O15184|Q53G22|Q5TZN1|Q6FI24|Q8NFL1|Q8TCY1|Q8TDX3|Q96RJ1	Silent	SNP	ENST00000313244.9	37	c.276C>T																																																																																					0.507	TRIP10-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000317129.2			19	72	0	0	0	0.055883	0	19	72					T	6743805	C	T	6743805	2	4	102	1	0	0	0	0	0	0	0	1	16551	506	18	3		3	TRIP10	19	6743805	Silent	SNP	C	TCGA-EJ-7792-01A-11D-2114-08		6743805	52385178	16	5671											
BACE2	25825	broad.mit.edu	37	chr21	42615330	42615330	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtggaattgaaccaagtttgTataaaggagacatctggtat	14	12	11	4	0	1	2	0	1	1	1	1	4	1	3	1	3	1	3	1	3	7	5			TCGA-EJ-7792-01A-11D-2114-08	TCGA-EJ-7792-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2903d109-d1bb-4545-a90a-81a3d8d62406	c6995bd6-51d1-4786-9c0a-e4aebe984d5f	g.chr21:42615330T>A	ENST00000330333.6	+	5	1238	c.775T>A	c.(775-777)Tat>Aat	p.Y259N	BACE2_ENST00000347667.5_Missense_Mutation_p.Y259N|BACE2_ENST00000466122.1_3'UTR|BACE2_ENST00000328735.6_Missense_Mutation_p.Y259N	NM_012105.3	NP_036237.2	Q9Y5Z0	BACE2_HUMAN	beta-site APP-cleaving enzyme 2	259					membrane protein ectodomain proteolysis (GO:0006509)|negative regulation of amyloid precursor protein biosynthetic process (GO:0042985)|peptide hormone processing (GO:0016486)|proteolysis (GO:0006508)	endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	aspartic-type endopeptidase activity (GO:0004190)			endometrium(2)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14		Prostate(19;1.57e-07)|all_epithelial(19;0.0251)				ACCAAGTTTGTATAAAGGAGA	0.388																																						ENST00000330333.6																			0				endometrium(2)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14						c.(775-777)Tat>Aat		beta-site APP-cleaving enzyme 2							100	106	104					21																	42615330		2203	4300	6503	SO:0001583	missense	25825				membrane protein ectodomain proteolysis|negative regulation of amyloid precursor protein biosynthetic process|peptide hormone processing	cell surface|endoplasmic reticulum|endosome|Golgi apparatus|integral to membrane	aspartic-type endopeptidase activity	g.chr21:42615330T>A	AF117892	CCDS13668.1, CCDS13669.1, CCDS13670.1	21q22.3	2011-08-11			ENSG00000182240	ENSG00000182240			934	protein-coding gene	gene with protein product		605668		AEPLC		10965118, 10830953	Standard	NM_138991		Approved	CEAP1, DRAP, ALP56	uc002yyw.3	Q9Y5Z0	OTTHUMG00000086742	ENST00000330333.6:c.775T>A	21.37:g.42615330T>A	ENSP00000332979:p.Tyr259Asn					BACE2_ENST00000466122.1_3'UTR|BACE2_ENST00000347667.4_Missense_Mutation_p.Y259N|BACE2_ENST00000328735.6_Missense_Mutation_p.Y259N	p.Y259N	NM_012105.3	NP_036237.2	Q9Y5Z0	BACE2_HUMAN			5	1238	+		Prostate(19;1.57e-07)|all_epithelial(19;0.0251)	259					A8K7P1|Q5DIH8|Q8N2D4|Q9H2V8|Q9NZL1|Q9NZL2|Q9UJT6	Missense_Mutation	SNP	ENST00000330333.6	37	c.775T>A	CCDS13668.1	.	.	.	.	.	.	.	.	.	.	T	20.7	4.032154	0.75504	.	.	ENSG00000182240	ENST00000330333;ENST00000347667;ENST00000328735;ENST00000544566	T;T;T	0.61859	0.07;0.07;0.07	5.7	5.7	0.88788	Peptidase aspartic (1);Peptidase aspartic, catalytic (1);	0.065002	0.64402	D	0.000005	T	0.76176	0.3951	M	0.79258	2.445	0.80722	D	1	D;D;D	0.76494	0.988;0.998;0.999	P;D;D	0.74023	0.76;0.965;0.982	T	0.79645	-0.1717	10	0.87932	D	0	.	15.1455	0.72647	0.0:0.0:0.0:1.0	.	259;259;259	Q9Y5Z0-3;Q9Y5Z0-2;Q9Y5Z0	.;.;BACE2_HUMAN	N	259;259;259;164	ENSP00000332979:Y259N;ENSP00000327528:Y259N;ENSP00000333854:Y259N	ENSP00000333854:Y259N	Y	+	1	0	BACE2	41537200	1.000000	0.71417	0.991000	0.47740	0.994000	0.84299	4.545000	0.60698	2.170000	0.68504	0.482000	0.46254	TAT		0.388	BACE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195056.1			8	39	0	0	0	0.047766	0	8	39					A	42615330	T	A	42615330	3	1	102	1	0	0	0	0	1	0	0	0	1282	1638	57	5	793	5	BACE2	21	42615330	Missense_Mutation	SNP	T	TCGA-EJ-7792-01A-11D-2114-08		42615330	5514565	17	5672											
DGCR8	54487	broad.mit.edu	37	chr22	20082238	20082238	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctcttttttttcatagccCgagctacactggaaatcctc	8	14	7	12	1	2	0	1	0	1	0	4	2	3	1	2	2	3	2	2	2	3	6			TCGA-EJ-7792-01A-11D-2114-08	TCGA-EJ-7792-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2903d109-d1bb-4545-a90a-81a3d8d62406	c6995bd6-51d1-4786-9c0a-e4aebe984d5f	g.chr22:20082238C>T	ENST00000351989.3	+	9	2137	c.1708C>T	c.(1708-1710)Cga>Tga	p.R570*	DGCR8_ENST00000383024.2_Nonsense_Mutation_p.R537*|DGCR8_ENST00000407755.1_Nonsense_Mutation_p.R537*	NM_022720.6	NP_073557.3	Q8WYQ5	DGCR8_HUMAN	DGCR8 microprocessor complex subunit	570	DRBM 1. {ECO:0000255|PROSITE- ProRule:PRU00266}.|Necessary for heme-binding and pri-miRNA processing.|Necessary for interaction with DROSHA.				gene expression (GO:0010467)|primary miRNA processing (GO:0031053)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)			NS(2)|breast(1)|endometrium(5)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	22	Colorectal(54;0.0993)					TTTCATAGCCCGAGCTACACT	0.542																																						ENST00000351989.3																			0				NS(2)|breast(1)|endometrium(5)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	22						c.(1708-1710)Cga>Tga		DGCR8 microprocessor complex subunit							115	116	115					22																	20082238		2203	4300	6503	SO:0001587	stop_gained	54487				primary miRNA processing	cytoplasm|microtubule cytoskeleton|nucleolus|nucleoplasm	double-stranded RNA binding|metal ion binding|protein binding	g.chr22:20082238C>T	AF165527, AB050770	CCDS13773.1, CCDS54501.1	22q11.2	2013-05-02	2013-05-02		ENSG00000128191	ENSG00000128191			2847	protein-coding gene	gene with protein product		609030	"chromosome 22 open reading frame 12", "DiGeorge syndrome critical region gene 8"	C22orf12		21454614	Standard	NM_001190326		Approved	DGCRK6, Gy1, pasha	uc002zri.3	Q8WYQ5	OTTHUMG00000150503	ENST00000351989.3:c.1708C>T	22.37:g.20082238C>T	ENSP00000263209:p.Arg570*					DGCR8_ENST00000383024.2_Nonsense_Mutation_p.R537*|DGCR8_ENST00000407755.1_Nonsense_Mutation_p.R537*	p.R570*	NM_022720.6	NP_073557.3	Q8WYQ5	DGCR8_HUMAN			9	2137	+	Colorectal(54;0.0993)		570			DRBM 1.|Necessary for heme-binding and pri-miRNA processing.|Necessary for interaction with DROSHA.		B2R8G1|Q6DCB2|Q6MZE9|Q6Y2L0|Q96G39|Q96GP8|Q9H6L8|Q9H6T7|Q9NRW2	Nonsense_Mutation	SNP	ENST00000351989.3	37	c.1708C>T	CCDS13773.1	.	.	.	.	.	.	.	.	.	.	C	45	11.818267	0.99606	.	.	ENSG00000128191	ENST00000351989;ENST00000383024;ENST00000407755	.	.	.	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-2.9057	19.686	0.95979	0.0:1.0:0.0:0.0	.	.	.	.	X	570;537;537	.	ENSP00000263209:R570X	R	+	1	2	DGCR8	18462238	1.000000	0.71417	1.000000	0.80357	0.785000	0.44390	7.482000	0.81143	2.755000	0.94549	0.591000	0.81541	CGA		0.542	DGCR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318654.1			17	89	0	0	0	0.043863	0	17	89					T	20082238	C	T	20082238	4	4	102	1	0	0	0	0	0	1	0	0	4464	644	23	2	1738	2	DGCR8	22	20082238	Nonsense_Mutation	SNP	C	TCGA-EJ-7792-01A-11D-2114-08		20082238	31222328	18	5673											
CLCN4	1183	broad.mit.edu	37	chrX	10176202	10176202	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccgtctcgttctcttttatGtggaataccacacgccctgg	6	13	9	13	3	2	0	0	0	2	0	4	1	2	1	3	2	1	1	3	2	3	4			TCGA-EJ-7792-01A-11D-2114-08	TCGA-EJ-7792-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2903d109-d1bb-4545-a90a-81a3d8d62406	c6995bd6-51d1-4786-9c0a-e4aebe984d5f	g.chrX:10176202G>A	ENST00000380833.4	+	9	1352	c.961G>A	c.(961-963)Gtg>Atg	p.V321M	CLCN4_ENST00000380829.1_Missense_Mutation_p.V321M|CLCN4_ENST00000421085.2_Missense_Mutation_p.V227M	NM_001256944.1|NM_001830.3	NP_001243873.1|NP_001821.2	P51793	CLCN4_HUMAN	chloride channel, voltage-sensitive 4	321					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|regulation of anion transport (GO:0044070)|transmembrane transport (GO:0055085)|transport (GO:0006810)	endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)	antiporter activity (GO:0015297)|ATP binding (GO:0005524)|chloride channel activity (GO:0005254)|voltage-gated chloride channel activity (GO:0005247)			breast(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(11)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						TCTCTTTTATGTGGAATACCA	0.542																																					Melanoma(74;1050 1296 1576 30544 38374)	ENST00000380833.4																			0				breast(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(11)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						c.(961-963)Gtg>Atg		chloride channel, voltage-sensitive 4							148	140	143					X																	10176202		2203	4300	6503	SO:0001583	missense	0					early endosome membrane|integral to membrane|late endosome membrane	antiporter activity|ATP binding|voltage-gated chloride channel activity	g.chrX:10176202G>A	X77197	CCDS14137.1, CCDS59159.1	Xp22.3	2012-09-26	2012-02-23		ENSG00000073464	ENSG00000073464		"Ion channels / Chloride channels : Voltage-sensitive"	2022	protein-coding gene	gene with protein product		302910	"chloride channel 4"			8069296	Standard	NM_001830		Approved	CLC4, ClC-4	uc004csy.4	P51793	OTTHUMG00000021125	ENST00000380833.4:c.961G>A	X.37:g.10176202G>A	ENSP00000370213:p.Val321Met					CLCN4_ENST00000421085.2_Missense_Mutation_p.V227M|CLCN4_ENST00000380829.1_Missense_Mutation_p.V321M	p.V321M	NM_001256944.1|NM_001830.3	NP_001243873.1|NP_001821.2	P51793	CLCN4_HUMAN			9	1352	+			321					A1L3U1|B7Z5Z4|Q9UBU1	Missense_Mutation	SNP	ENST00000380833.4	37	c.961G>A	CCDS14137.1	.	.	.	.	.	.	.	.	.	.	g	25.2	4.616067	0.87359	.	.	ENSG00000073464	ENST00000380833;ENST00000380829;ENST00000421085	D;D;D	0.95069	-3.6;-3.3;-3.6	5.69	5.69	0.88448	Chloride channel, core (2);	0.000000	0.85682	D	0.000000	D	0.97757	0.9264	M	0.90814	3.15	0.80722	D	1	D	0.76494	0.999	D	0.68621	0.959	D	0.98465	1.0598	10	0.87932	D	0	-44.4361	18.981	0.92755	0.0:0.0:1.0:0.0	.	321	P51793	CLCN4_HUMAN	M	321;321;227	ENSP00000370213:V321M;ENSP00000370209:V321M;ENSP00000405754:V227M	ENSP00000370209:V321M	V	+	1	0	CLCN4	10136202	1.000000	0.71417	0.997000	0.53966	0.813000	0.45954	9.664000	0.98607	2.431000	0.82371	0.586000	0.80456	GTG		0.542	CLCN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055730.1			37	60	0	0	0	0.086207	0	37	60					A	10176202	G	A	10176202	3	1	102	1	0	0	0	0	1	0	0	0	3465	1377	48	3	987	3	CLCN4	23	10176202	Missense_Mutation	SNP	G	TCGA-EJ-7792-01A-11D-2114-08		10176202	145094358	19	5674											
OR2M3	127062	broad.mit.edu	37	chr1	248366998	248366998	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tatagtaatgattgttttccCtgttgcaatcatcattgctt	9	19	6	7	0	2	1	2	1	0	0	3	1	3	1	1	0	2	5	1	0	4	9			TCGA-EJ-7793-01A-31D-2260-08	TCGA-EJ-7793-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9667b442-1eb3-4431-bece-f53abb42e5e6	9e145950-4c73-4ca2-a9a7-1e915b9268ec	g.chr1:248366998C>T	ENST00000456743.1	+	1	667	c.629C>T	c.(628-630)cCt>cTt	p.P210L		NM_001004689.1	NP_001004689.1	Q8NG83	OR2M3_HUMAN	olfactory receptor, family 2, subfamily M, member 3	210						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(6)|large_intestine(4)|lung(33)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	50	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			ATTGTTTTCCCTGTTGCAATC	0.418																																						ENST00000456743.1																			0				endometrium(6)|large_intestine(4)|lung(33)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	50						c.(628-630)cCt>cTt		olfactory receptor, family 2, subfamily M, member 3							284	278	280					1																	248366998		2203	4300	6503	SO:0001583	missense	127062				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248366998C>T		CCDS31107.1	1q44	2012-08-09		2004-03-10	ENSG00000228198	ENSG00000228198		"GPCR / Class A : Olfactory receptors"	8269	protein-coding gene	gene with protein product				OR2M6, OR2M3P			Standard	NM_001004689		Approved	OST003	uc010pzg.2	Q8NG83	OTTHUMG00000040459	ENST00000456743.1:c.629C>T	1.37:g.248366998C>T	ENSP00000389625:p.Pro210Leu						p.P210L	NM_001004689.1	NP_001004689.1	Q8NG83	OR2M3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0245)		1	667	+	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		210					B9EH06|Q6IEY0	Missense_Mutation	SNP	ENST00000456743.1	37	c.629C>T	CCDS31107.1	.	.	.	.	.	.	.	.	.	.	c	13.55	2.272162	0.40194	.	.	ENSG00000228198	ENST00000456743	T	0.56103	0.48	2.43	2.43	0.29744	GPCR, rhodopsin-like superfamily (1);	0.000000	0.31949	U	0.006810	T	0.70885	0.3275	M	0.87547	2.89	0.09310	N	1	D	0.67145	0.996	D	0.79108	0.992	T	0.59710	-0.7403	10	0.87932	D	0	.	7.93	0.29897	0.0:0.6411:0.3589:0.0	.	210	Q8NG83	OR2M3_HUMAN	L	210	ENSP00000389625:P210L	ENSP00000389625:P210L	P	+	2	0	OR2M3	246433621	0.000000	0.05858	0.008000	0.14137	0.031000	0.12232	0.863000	0.27913	1.356000	0.45884	0.398000	0.26397	CCT		0.418	OR2M3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097355.1	NM_001004689		49	351	0	0	0	1	0	49	351					T	248366998	C	T	248366998	3	4	103	1	0	0	0	0	1	0	0	0	11011	681	24	3	631	3	OR2M3	1	248366998	Missense_Mutation	SNP	C	TCGA-EJ-7793-01A-31D-2260-08		248366998	883623	1	5675											
OR2T4	127074	broad.mit.edu	37	chr1	248524908	248524908	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caacatcacctggatggccaGccacactggatggtcggatt	10	8	11	12	1	1	0	1	0	0	0	2	3	1	3	3	5	2	0	3	5	1	1	rs140989725		TCGA-EJ-7793-01A-31D-2260-08	TCGA-EJ-7793-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9667b442-1eb3-4431-bece-f53abb42e5e6	9e145950-4c73-4ca2-a9a7-1e915b9268ec	g.chr1:248524908G>A	ENST00000366475.1	+	1	26	c.26G>A	c.(25-27)aGc>aAc	p.S9N		NM_001004696.1	NP_001004696.1	Q8NH00	OR2T4_HUMAN	olfactory receptor, family 2, subfamily T, member 4	9						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(2)|lung(47)	56	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TGGATGGCCAGCCACACTGGA	0.483																																						ENST00000366475.1																			0				central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(2)|lung(47)	56						c.(25-27)aGc>aAc		olfactory receptor, family 2, subfamily T, member 4							78	74	76					1																	248524908		2203	4300	6503	SO:0001583	missense	127074				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248524908G>A	BK004464	CCDS31113.1	1q44	2012-08-09			ENSG00000196944	ENSG00000196944		"GPCR / Class A : Olfactory receptors"	15016	protein-coding gene	gene with protein product							Standard	NM_001004696		Approved	OR2T4Q	uc001ieh.1	Q8NH00	OTTHUMG00000040453	ENST00000366475.1:c.26G>A	1.37:g.248524908G>A	ENSP00000355431:p.Ser9Asn						p.S9N	NM_001004696.1	NP_001004696.1	Q8NH00	OR2T4_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	26	+	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		9					Q6IEZ8	Missense_Mutation	SNP	ENST00000366475.1	37	c.26G>A	CCDS31113.1	.	.	.	.	.	.	.	.	.	.	G	0.006	-2.037779	0.00402	.	.	ENSG00000196944	ENST00000366475	T	0.01821	4.62	1.77	-1.13	0.09775	.	.	.	.	.	T	0.00815	0.0027	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.47156	-0.9139	9	0.05351	T	0.99	.	4.3443	0.11126	0.6047:0.0:0.3953:0.0	.	9	Q8NH00	OR2T4_HUMAN	N	9	ENSP00000355431:S9N	ENSP00000355431:S9N	S	+	2	0	OR2T4	246591531	0.000000	0.05858	0.009000	0.14445	0.059000	0.15707	-0.336000	0.07863	-0.221000	0.09973	-0.745000	0.03516	AGC		0.483	OR2T4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097349.2	NM_001004696		3	70	0	0	0	1	0	3	70					A	248524908	G	A	248524908	3	1	103	1	0	0	0	0	1	0	0	0	11027	971	34	3	28	3	OR2T4	1	248524908	Missense_Mutation	SNP	G	TCGA-EJ-7793-01A-31D-2260-08	157910	248524908	725713	2	5676			1	15		2	2	30	N	G_A	2.248272e-05
OR2T4	127074	broad.mit.edu	37	chr1	248524937	248524937	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatggtcggatttcatcctgAtgggactcttcagacaatcc	9	12	10	10	1	3	2	2	1	1	1	6	5	5	4	2	3	0	0	2	3	1	2			TCGA-EJ-7793-01A-31D-2260-08	TCGA-EJ-7793-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9667b442-1eb3-4431-bece-f53abb42e5e6	9e145950-4c73-4ca2-a9a7-1e915b9268ec	g.chr1:248524937A>T	ENST00000366475.1	+	1	55	c.55A>T	c.(55-57)Atg>Ttg	p.M19L		NM_001004696.1	NP_001004696.1	Q8NH00	OR2T4_HUMAN	olfactory receptor, family 2, subfamily T, member 4	19						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(2)|lung(47)	56	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TTTCATCCTGATGGGACTCTT	0.488																																						ENST00000366475.1																			0				central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(2)|lung(47)	56						c.(55-57)Atg>Ttg		olfactory receptor, family 2, subfamily T, member 4							94	84	88					1																	248524937		2203	4300	6503	SO:0001583	missense	127074				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248524937A>T	BK004464	CCDS31113.1	1q44	2012-08-09			ENSG00000196944	ENSG00000196944		"GPCR / Class A : Olfactory receptors"	15016	protein-coding gene	gene with protein product							Standard	NM_001004696		Approved	OR2T4Q	uc001ieh.1	Q8NH00	OTTHUMG00000040453	ENST00000366475.1:c.55A>T	1.37:g.248524937A>T	ENSP00000355431:p.Met19Leu						p.M19L	NM_001004696.1	NP_001004696.1	Q8NH00	OR2T4_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	55	+	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		19					Q6IEZ8	Missense_Mutation	SNP	ENST00000366475.1	37	c.55A>T	CCDS31113.1	.	.	.	.	.	.	.	.	.	.	A	8.156	0.788354	0.16258	.	.	ENSG00000196944	ENST00000366475	T	0.01464	4.86	1.18	-0.177	0.13307	.	.	.	.	.	T	0.00875	0.0029	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.48151	-0.9060	9	0.07990	T	0.79	.	3.8757	0.09056	0.685:0.0:0.315:0.0	.	19	Q8NH00	OR2T4_HUMAN	L	19	ENSP00000355431:M19L	ENSP00000355431:M19L	M	+	1	0	OR2T4	246591560	0.000000	0.05858	0.143000	0.22291	0.062000	0.15995	-0.693000	0.05121	-0.020000	0.14032	0.381000	0.24937	ATG		0.488	OR2T4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097349.2	NM_001004696		3	84	0	0	0	1	0	3	84					T	248524937	A	T	248524937	3	4	103	1	0	0	0	0	1	0	0	0	11027	333	12	5	57	5	OR2T4	1	248524937	Missense_Mutation	SNP	A	TCGA-EJ-7793-01A-31D-2260-08	29	248524937	725684	3	5677			1	15		2	2	30	N	G_A	2.248272e-05
MORC1	27136	broad.mit.edu	37	chr3	108819312	108819312	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaacttcaaggttgacagcCgttttttggatcgtccaaag	10	13	10	8	2	1	2	1	2	0	0	3	3	2	3	2	2	2	2	2	2	3	5	rs374215295		TCGA-EJ-7793-01A-31D-2260-08	TCGA-EJ-7793-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9667b442-1eb3-4431-bece-f53abb42e5e6	9e145950-4c73-4ca2-a9a7-1e915b9268ec	g.chr3:108819312C>T	ENST00000483760.1	-	5	309	c.266G>A	c.(265-267)cGg>cAg	p.R89Q	MORC1-AS1_ENST00000480826.1_RNA|MORC1_ENST00000232603.5_Missense_Mutation_p.R89Q					MORC family CW-type zinc finger 1											breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						GGTTGACAGCCGTTTTTTGGA	0.398																																						ENST00000232603.5																			0				breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						c.(265-267)cGg>cAg		MORC family CW-type zinc finger 1		C	GLN/ARG	0,4406		0,0,2203	184	184	184		266	3.5	0.7	3		184	1,8599	1.2+/-3.3	0,1,4299	no	missense	MORC1	NM_014429.3	43	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	89/985	108819312	1,13005	2203	4300	6503	SO:0001583	missense	27136				cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding	g.chr3:108819312C>T	AF084946	CCDS2955.1	3q13	2011-10-26	2005-06-15	2005-06-15	ENSG00000114487	ENSG00000114487			7198	protein-coding gene	gene with protein product	"cancer/testis antigen 33"	603205	"microrchidia (mouse) homolog", "microrchidia homolog (mouse)"	MORC		10369865	Standard	NM_014429		Approved	ZCW6, CT33	uc003dxl.3	Q86VD1	OTTHUMG00000159209	ENST00000483760.1:c.266G>A	3.37:g.108819312C>T	ENSP00000417282:p.Arg89Gln					MORC1_ENST00000483760.1_Missense_Mutation_p.R89Q	p.R89Q	NM_014429.3	NP_055244.3	Q86VD1	MORC1_HUMAN			5	348	-			89						Missense_Mutation	SNP	ENST00000483760.1	37	c.266G>A		.	.	.	.	.	.	.	.	.	.	C	19.29	3.798725	0.70567	0.0	1.16E-4	ENSG00000114487	ENST00000232603;ENST00000483760	D;D	0.95035	-3.59;-3.59	5.32	3.53	0.40419	ATPase-like, ATP-binding domain (3);	0.312347	0.23631	N	0.046123	D	0.91078	0.7192	L	0.58669	1.825	0.29851	N	0.828413	P;B	0.40731	0.728;0.354	B;B	0.38156	0.266;0.219	D	0.86061	0.1532	10	0.35671	T	0.21	-3.4591	8.1909	0.31368	0.1574:0.7605:0.0:0.0821	.	89;89	E7ERX1;Q86VD1	.;MORC1_HUMAN	Q	89	ENSP00000232603:R89Q;ENSP00000417282:R89Q	ENSP00000232603:R89Q	R	-	2	0	MORC1	110302002	0.965000	0.33210	0.689000	0.30133	0.944000	0.59088	2.212000	0.42835	0.815000	0.34398	0.655000	0.94253	CGG		0.398	MORC1-002	NOVEL	basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000353844.1			3	147	0	0	0	1	0	3	147					T	108819312	C	T	108819312	3	4	103	1	0	0	0	0	1	0	0	0	9701	652	23	2	2784	2	MORC1	3	108819312	Missense_Mutation	SNP	C	TCGA-EJ-7793-01A-31D-2260-08		108819312	89203118	4	5678											
RNF8	9025	broad.mit.edu	37	chr6	37336290	37336290	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgtttggctgaacagagcgCgtctggaacctttaagggtc	8	11	14	8	2	1	2	0	1	1	1	2	3	1	3	1	3	3	2	1	3	3	3	rs372903665		TCGA-EJ-7793-01A-31D-2260-08	TCGA-EJ-7793-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9667b442-1eb3-4431-bece-f53abb42e5e6	9e145950-4c73-4ca2-a9a7-1e915b9268ec	g.chr6:37336290C>T	ENST00000373479.4	+	3	464	c.271C>T	c.(271-273)Cgt>Tgt	p.R91C	RNF8_ENST00000469731.1_Missense_Mutation_p.R91C|RNF8_ENST00000479516.1_3'UTR	NM_003958.3|NM_183078.2	NP_003949.1|NP_898901.1	O76064	RNF8_HUMAN	ring finger protein 8, E3 ubiquitin protein ligase	91	FHA. {ECO:0000255|PROSITE- ProRule:PRU00086}.				cellular response to DNA damage stimulus (GO:0006974)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|histone exchange (GO:0043486)|histone H2A K63-linked ubiquitination (GO:0070535)|histone H2A ubiquitination (GO:0033522)|histone H2B ubiquitination (GO:0033523)|interstrand cross-link repair (GO:0036297)|isotype switching (GO:0045190)|mitotic nuclear division (GO:0007067)|negative regulation of translational elongation (GO:0045900)|positive regulation of DNA repair (GO:0045739)|protein autoubiquitination (GO:0051865)|protein K48-linked ubiquitination (GO:0070936)|protein K63-linked ubiquitination (GO:0070534)|response to ionizing radiation (GO:0010212)|spermatid development (GO:0007286)|ubiquitin-dependent protein catabolic process (GO:0006511)	chromosome, telomeric region (GO:0000781)|nucleolus (GO:0005730)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)|ubiquitin ligase complex (GO:0000151)	acid-amino acid ligase activity (GO:0016881)|chromatin binding (GO:0003682)|histone binding (GO:0042393)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1)	13						GAACAGAGCGCGTCTGGAACC	0.423																																						ENST00000373479.4																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1)	13						c.(271-273)Cgt>Tgt		ring finger protein 8, E3 ubiquitin protein ligase							122	126	125					6																	37336290		2203	4300	6503	SO:0001583	missense	9025				cell division|double-strand break repair|histone H2A ubiquitination|histone H2B ubiquitination|mitosis|positive regulation of DNA repair|response to ionizing radiation	midbody|nucleus|ubiquitin ligase complex	chromatin binding|histone binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr6:37336290C>T	AB012770	CCDS4833.1, CCDS4834.1	6p21.3	2013-01-09	2012-02-23		ENSG00000112130	ENSG00000112130		"RING-type (C3HC4) zinc fingers"	10071	protein-coding gene	gene with protein product		611685	"ring finger protein (C3HC4 type) 8", "ring finger protein 8"			9734811, 9852682	Standard	NM_003958		Approved	KIAA0646	uc003onq.4	O76064	OTTHUMG00000014620	ENST00000373479.4:c.271C>T	6.37:g.37336290C>T	ENSP00000362578:p.Arg91Cys					RNF8_ENST00000469731.1_Missense_Mutation_p.R91C|RNF8_ENST00000479516.1_3'UTR	p.R91C	NM_003958.3|NM_183078.2	NP_003949.1|NP_898901.1	O76064	RNF8_HUMAN			3	464	+			91			FHA.		A6NN24|A8MYC0|B4DPG0|Q53H16|Q5NKW5	Missense_Mutation	SNP	ENST00000373479.4	37	c.271C>T	CCDS4834.1	.	.	.	.	.	.	.	.	.	.	C	17.45	3.393911	0.62066	.	.	ENSG00000112130	ENST00000373479;ENST00000487950;ENST00000469731	D;D;D	0.89746	-2.56;-2.56;-2.56	5.85	4.99	0.66335	Forkhead-associated (FHA) domain (4);SMAD/FHA domain (1);	0.058435	0.64402	D	0.000002	D	0.89301	0.6676	H	0.97918	4.105	0.80722	D	1	P;B	0.43024	0.798;0.348	B;B	0.36608	0.229;0.178	D	0.90870	0.4745	10	0.87932	D	0	-7.0622	8.9192	0.35601	0.1479:0.778:0.0:0.0741	.	34;91	C9J858;O76064	.;RNF8_HUMAN	C	91;34;91	ENSP00000362578:R91C;ENSP00000417736:R34C;ENSP00000418879:R91C	ENSP00000362578:R91C	R	+	1	0	RNF8	37444268	1.000000	0.71417	0.970000	0.41538	0.542000	0.35054	5.192000	0.65115	1.484000	0.48361	0.655000	0.94253	CGT		0.423	RNF8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040403.2			3	139	0	0	0	1	0	3	139					T	37336290	C	T	37336290	3	4	103	1	0	0	0	0	1	0	0	0	13500	768	27	1	281	1	RNF8	6	37336290	Missense_Mutation	SNP	C	TCGA-EJ-7793-01A-31D-2260-08		37336290	133778777	5	5679											
COL12A1	1303	broad.mit.edu	37	chr6	75855959	75855959	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggctgactacaggcactggCacttccaaaacagaaaagca	16	5	9	11	0	0	2	0	1	0	1	1	2	1	2	1	3	3	4	1	3	5	2			TCGA-EJ-7793-01A-31D-2260-08	TCGA-EJ-7793-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9667b442-1eb3-4431-bece-f53abb42e5e6	9e145950-4c73-4ca2-a9a7-1e915b9268ec	g.chr6:75855959C>A	ENST00000322507.8	-	24	4728	c.4419G>T	c.(4417-4419)ttG>ttT	p.L1473F	COL12A1_ENST00000483888.2_Splice_Site_p.L1473F|COL12A1_ENST00000345356.6_Splice_Site_p.L309F|COL12A1_ENST00000416123.2_Splice_Site_p.L1473F	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	1473	Fibronectin type-III 9. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	collagen type XII trimer (GO:0005595)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|vesicle (GO:0031982)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)			breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						CAGGCACTGGCACTTCCAAAA	0.418																																						ENST00000322507.8																			0				breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						c.e24-1		collagen, type XII, alpha 1							69	64	66					6																	75855959		1979	4169	6148	SO:0001630	splice_region_variant	1303				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength	g.chr6:75855959C>A	U73779	CCDS43481.1, CCDS43482.1	6q12-q13	2013-02-11	2003-07-24		ENSG00000111799	ENSG00000111799		"Proteoglycans / Extracellular Matrix : Collagen proteoglycans", "Collagens", "Fibronectin type III domain containing"	2188	protein-coding gene	gene with protein product	"collagen type XII proteoglycan"	120320	"collagen, type XII, alpha 1-like"	COL12A1L		9143499	Standard	XM_006715334		Approved		uc003phs.3	Q99715	OTTHUMG00000015051	ENST00000322507.8:c.4418-1G>T	6.37:g.75855959C>A						COL12A1_ENST00000416123.2_Splice_Site_p.L1473_splice|COL12A1_ENST00000483888.2_Splice_Site_p.L1473_splice|COL12A1_ENST00000345356.6_Splice_Site_p.L309_splice	p.L1473_splice	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN			24	4728	-			1473					O43853|Q15955|Q5VYK1|Q5VYK2|Q71UR3|Q99716	Splice_Site	SNP	ENST00000322507.8	37	c.4417_splice	CCDS43482.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.89|14.89	2.669191|2.669191	0.47677|0.47677	.|.	.|.	ENSG00000111799|ENSG00000111799	ENST00000419671|ENST00000322507;ENST00000432784;ENST00000345356;ENST00000416123;ENST00000483888	.|T;T;T;T	.|0.55052	.|0.54;0.54;0.54;0.54	4.89|4.89	3.11|3.11	0.35812|0.35812	.|Fibronectin, type III (1);	.|0.466770	.|0.21061	.|N	.|0.080827	T|T	0.49609|0.49609	0.1567|0.1567	M|M	0.81497|0.81497	2.545|2.545	0.33832|0.33832	D|D	0.630412|0.630412	.|D;P	.|0.57571	.|0.98;0.737	.|P;B	.|0.53450	.|0.726;0.336	T|T	0.54503|0.54503	-0.8284|-0.8284	5|10	.|0.52906	.|T	.|0.07	.|.	7.6672|7.6672	0.28439|0.28439	0.1326:0.7221:0.0:0.1453|0.1326:0.7221:0.0:0.1453	.|.	.|309;1473	.|Q99715-2;Q99715	.|.;COCA1_HUMAN	S|F	215|1473;1473;309;1473;1473	.|ENSP00000325146:L1473F;ENSP00000305147:L309F;ENSP00000412864:L1473F;ENSP00000421216:L1473F	.|ENSP00000325146:L1473F	A|L	-|-	1|3	0|2	COL12A1|COL12A1	75912679|75912679	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.620000|0.620000	0.37586|0.37586	0.904000|0.904000	0.28491|0.28491	0.592000|0.592000	0.29728|0.29728	0.655000|0.655000	0.94253|0.94253	GCC|TTG		0.418	COL12A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041249.3	NM_004370	Missense_Mutation	4	26	1	0	0.150653	1	0.159784	4	26					A	75855959	C	A	75855959	5	1	103	1	0	0	0	0	0	0	1	0	3669	724	25	5	4944	5	COL12A1	6	75855959	Splice_Site	SNP	C	TCGA-EJ-7793-01A-31D-2260-08	38519669	75855959	95259108	6	5680											
CACNA2D1	781	broad.mit.edu	37	chr7	81591292	81591292	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgggtttgttcagtaatgcAgctctgcttggacagggagg	7	12	15	7	0	2	0	1	0	1	0	2	2	2	2	0	4	3	6	0	4	1	4			TCGA-EJ-7793-01A-31D-2260-08	TCGA-EJ-7793-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9667b442-1eb3-4431-bece-f53abb42e5e6	9e145950-4c73-4ca2-a9a7-1e915b9268ec	g.chr7:81591292A>C	ENST00000356253.5	-	36	3175	c.2920T>G	c.(2920-2922)Tgc>Ggc	p.C974G	CACNA2D1_ENST00000356860.3_Missense_Mutation_p.C962G|CACNA2D1_ENST00000535308.1_Missense_Mutation_p.C174G			P54289	CA2D1_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 1	974					calcium ion transport (GO:0006816)|regulation of calcium ion transport (GO:0051924)	extracellular vesicular exosome (GO:0070062)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)|voltage-gated calcium channel complex (GO:0005891)	metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	81					Amlodipine(DB00381)|Cyclandelate(DB04838)|Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)	TCAGTAATGCAGCTCTGCTTG	0.448																																						ENST00000356860.3																			0				breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	81						c.(2884-2886)Tgc>Ggc		calcium channel, voltage-dependent, alpha 2/delta subunit 1	Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)						133	124	127					7																	81591292		2203	4300	6503	SO:0001583	missense	781					voltage-gated calcium channel complex	metal ion binding	g.chr7:81591292A>C	M76559	CCDS5598.1	7q21-q22	2014-09-17			ENSG00000153956	ENSG00000153956		"Calcium channel subunits"	1399	protein-coding gene	gene with protein product		114204	"long intergenic non-protein coding RNA 1112"	CACNL2A, CACNA2, MHS3, LINC01112		8188232	Standard	XM_005250570		Approved	lncRNA-N3	uc003uhr.1	P54289	OTTHUMG00000023622	ENST00000356253.5:c.2920T>G	7.37:g.81591292A>C	ENSP00000348589:p.Cys974Gly					CACNA2D1_ENST00000356253.5_Missense_Mutation_p.C974G|CACNA2D1_ENST00000535308.1_Missense_Mutation_p.C174G	p.C962G	NM_000722.2	NP_000713.2	P54289	CA2D1_HUMAN			36	3222	-			974					Q17R45|Q9UD80|Q9UD81|Q9UD82	Missense_Mutation	SNP	ENST00000356253.5	37	c.2884T>G		.	.	.	.	.	.	.	.	.	.	A	24.0	4.482416	0.84747	.	.	ENSG00000153956	ENST00000356860;ENST00000284088;ENST00000356253;ENST00000535308	T;T;T	0.78595	-1.19;-1.19;-1.19	5.19	5.19	0.71726	.	0.000000	0.85682	D	0.000000	D	0.88644	0.6492	M	0.83603	2.65	0.58432	D	0.999995	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.90465	0.4449	10	0.87932	D	0	-13.6937	15.3769	0.74615	1.0:0.0:0.0:0.0	.	174;962	B7Z658;P54289-2	.;.	G	962;981;974;174	ENSP00000349320:C962G;ENSP00000348589:C974G;ENSP00000443124:C174G	ENSP00000284088:C981G	C	-	1	0	CACNA2D1	81429228	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.841000	0.92131	2.093000	0.63338	0.529000	0.55759	TGC		0.448	CACNA2D1-201	KNOWN	basic	protein_coding	protein_coding				10	57	0	0	0	1	0	10	57					C	81591292	A	C	81591292	3	2	103	1	0	0	0	0	1	0	0	0	2548	188	7	5	407	5	CACNA2D1	7	81591292	Missense_Mutation	SNP	A	TCGA-EJ-7793-01A-31D-2260-08		81591292	77547371	7	5681											
RP1L1	94137	broad.mit.edu	37	chr8	10480104	10480104	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcagaccccaacagcctaccTttttcccgctggtcgtgtac	7	11	7	16	2	1	1	1	0	0	1	3	1	2	1	5	1	4	2	5	1	3	4			TCGA-EJ-7793-01A-31D-2260-08	TCGA-EJ-7793-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9667b442-1eb3-4431-bece-f53abb42e5e6	9e145950-4c73-4ca2-a9a7-1e915b9268ec	g.chr8:10480104T>C	ENST00000382483.3	-	2	831	c.608A>G	c.(607-609)aAg>aGg	p.K203R	RP1L1_ENST00000329335.3_5'UTR	NM_178857.5	NP_849188.4	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	203	Doublecortin 2. {ECO:0000255|PROSITE- ProRule:PRU00072}.				cell projection organization (GO:0030030)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|visual perception (GO:0007601)	axoneme (GO:0005930)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|photoreceptor connecting cilium (GO:0032391)|photoreceptor outer segment (GO:0001750)				breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		ACAGCCTACCTTTTTCCCGCT	0.483																																						ENST00000382483.3																			0				breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148						c.e2+1		retinitis pigmentosa 1-like 1							153	142	145					8																	10480104		1893	4128	6021	SO:0001630	splice_region_variant	94137				intracellular signal transduction			g.chr8:10480104T>C	AY168346	CCDS43708.1	8p23.1	2011-12-06			ENSG00000183638	ENSG00000183638			15946	protein-coding gene	gene with protein product		608581				12634863	Standard	NM_178857		Approved	DCDC4B	uc003wtc.3	Q8IWN7	OTTHUMG00000163806	ENST00000382483.3:c.609+1A>G	8.37:g.10480104T>C						RP1L1_ENST00000329335.3_5'UTR	p.K203_splice	NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN		COAD - Colon adenocarcinoma(149;0.0811)	2	831	-			203					Q86SQ1|Q8IWN8|Q8IWN9|Q8IWP0|Q8IWP1|Q8IWP2	Splice_Site	SNP	ENST00000382483.3	37	c.609_splice	CCDS43708.1	.	.	.	.	.	.	.	.	.	.	T	14.26	2.482561	0.44147	.	.	ENSG00000183638	ENST00000382483	D	0.92099	-2.97	4.71	3.55	0.40652	.	0.000000	0.35067	U	0.003476	D	0.88112	0.6349	N	0.16743	0.435	0.35642	D	0.811082	P	0.48089	0.905	P	0.55667	0.781	D	0.86089	0.1549	10	0.24483	T	0.36	-30.1634	7.1436	0.25570	0.0:0.1744:0.0:0.8256	.	203	A6NKC6	.	R	203	ENSP00000371923:K203R	ENSP00000371923:K203R	K	-	2	0	RP1L1	10517514	1.000000	0.71417	0.968000	0.41197	0.198000	0.23893	2.415000	0.44635	0.834000	0.34852	0.459000	0.35465	AAG		0.483	RP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375673.1		Missense_Mutation	3	175	0	0	0	1	0	3	175					C	10480104	T	C	10480104	5	2	103	1	0	0	0	0	0	0	1	0	13533	1623	56	4	6606	4	RP1L1	8	10480104	Splice_Site	SNP	T	TCGA-EJ-7793-01A-31D-2260-08		10480104	135883918	8	5682											
MMP16	4325	broad.mit.edu	37	chr8	89128877	89128877	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcatttttccttgggtcagcCggaggaatagagcggtgtgg	7	12	15	7	2	2	1	2	0	0	1	3	3	3	3	2	5	2	0	2	5	2	4			TCGA-EJ-7793-01A-31D-2260-08	TCGA-EJ-7793-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9667b442-1eb3-4431-bece-f53abb42e5e6	9e145950-4c73-4ca2-a9a7-1e915b9268ec	g.chr8:89128877C>T	ENST00000286614.6	-	6	1223	c.942G>A	c.(940-942)ccG>ccA	p.P314P	MMP16_ENST00000544227.1_5'UTR	NM_005941.4	NP_005932.2	P51512	MMP16_HUMAN	matrix metallopeptidase 16 (membrane-inserted)	314					chondrocyte proliferation (GO:0035988)|collagen catabolic process (GO:0030574)|craniofacial suture morphogenesis (GO:0097094)|embryonic cranial skeleton morphogenesis (GO:0048701)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of catalytic activity (GO:0043085)	Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|enzyme activator activity (GO:0008047)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.P314P(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(51)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	81					Marimastat(DB00786)	TTGGGTCAGCCGGAGGAATAG	0.537																																						ENST00000286614.6																			1	Substitution - coding silent(1)	p.P314P(1)	prostate(1)	breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(51)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	81						c.(940-942)ccG>ccA		matrix metallopeptidase 16 (membrane-inserted)							201	204	203					8																	89128877		2203	4300	6503	SO:0001819	synonymous_variant	4325				collagen catabolic process|proteolysis	cell surface|integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding	g.chr8:89128877C>T	D85511	CCDS6246.1	8q21	2009-01-09	2005-08-08		ENSG00000156103	ENSG00000156103			7162	protein-coding gene	gene with protein product		602262	"matrix metalloproteinase 16 (membrane-inserted)", "chromosome 8 open reading frame 57"	C8orf57		7559440	Standard	NM_005941		Approved	MT3-MMP, DKFZp761D112	uc003yeb.4	P51512	OTTHUMG00000163769	ENST00000286614.6:c.942G>A	8.37:g.89128877C>T						MMP16_ENST00000544227.1_5'UTR	p.P314P	NM_005941.4	NP_005932.2	P51512	MMP16_HUMAN			6	1223	-			314					B2RAN7|Q14824|Q52H48	Silent	SNP	ENST00000286614.6	37	c.942G>A	CCDS6246.1																																																																																				0.537	MMP16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375304.2	NM_005941		22	179	0	0	0	1	0	22	179					T	89128877	C	T	89128877	2	4	103	1	0	0	0	0	0	0	0	1	9655	639	23	2		2	MMP16	8	89128877	Silent	SNP	C	TCGA-EJ-7793-01A-31D-2260-08	78648773	89128877	57235145	9	5683											
CDHR1	92211	broad.mit.edu	37	chr10	85972118	85972118	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccccctcagtttggaaagagCgttcagaagaagacgatggt	12	8	12	9	2	2	4	2	0	0	4	2	6	2	5	2	2	1	2	2	2	3	2	rs200215278		TCGA-EJ-7793-01A-31D-2260-08	TCGA-EJ-7793-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9667b442-1eb3-4431-bece-f53abb42e5e6	9e145950-4c73-4ca2-a9a7-1e915b9268ec	g.chr10:85972118C>T	ENST00000372117.3	+	15	1840	c.1737C>T	c.(1735-1737)agC>agT	p.S579S	CDHR1_ENST00000440770.2_Silent_p.S283S|CDHR1_ENST00000332904.3_Silent_p.S579S	NM_033100.2	NP_149091.1	Q96JP9	CDHR1_HUMAN	cadherin-related family member 1	579	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cellular process (GO:0009987)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)	integral component of plasma membrane (GO:0005887)|photoreceptor outer segment membrane (GO:0042622)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(21)|ovary(1)|prostate(1)|skin(1)	36						TTGGAAAGAGCGTTCAGAAGA	0.517													C|||	1	0.000199681	0	0	5008	,	,		20075	0		0.001	False		,,,				2504	0					ENST00000372117.3																			0				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(21)|ovary(1)|prostate(1)|skin(1)	36						c.(1735-1737)agC>agT		cadherin-related family member 1							139	126	130					10																	85972118		2203	4300	6503	SO:0001819	synonymous_variant	92211				homophilic cell adhesion		calcium ion binding|receptor activity	g.chr10:85972118C>T	AB053448	CCDS7372.1, CCDS53548.1	10q23.1	2014-01-28	2010-01-25	2010-01-25	ENSG00000148600	ENSG00000148600		"Cadherins / Cadherin-related"	14550	protein-coding gene	gene with protein product		609502	"protocadherin 21"	PCDH21		11597768	Standard	NM_001171971		Approved	KIAA1775, CORD15, RP65	uc001kcv.3	Q96JP9	OTTHUMG00000018634	ENST00000372117.3:c.1737C>T	10.37:g.85972118C>T						CDHR1_ENST00000440770.2_Silent_p.S283S|CDHR1_ENST00000332904.3_Silent_p.S579S	p.S579S	NM_033100.2	NP_149091.1	Q96JP9	CDHR1_HUMAN			15	1840	+			579			Cadherin 6.		Q69YZ8|Q8IXY5	Silent	SNP	ENST00000372117.3	37	c.1737C>T	CCDS7372.1																																																																																				0.517	CDHR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049111.1	NM_033100		3	118	0	0	0	1	0	3	118					T	85972118	C	T	85972118	2	4	103	1	0	0	0	0	0	0	0	1	3118	767	27	1		1	CDHR1	10	85972118	Silent	SNP	C	TCGA-EJ-7793-01A-31D-2260-08		85972118	49562629	10	5684											
KIF11	3832	broad.mit.edu	37	chr10	94405250	94405250	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tggttgaagaatctgtgaaaCactctgataaactcaatggc	14	11	9	7	0	3	4	1	3	2	1	3	4	3	4	0	2	2	1	0	2	6	2			TCGA-EJ-7793-01A-31D-2260-08	TCGA-EJ-7793-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9667b442-1eb3-4431-bece-f53abb42e5e6	9e145950-4c73-4ca2-a9a7-1e915b9268ec	g.chr10:94405250C>T	ENST00000260731.3	+	18	2488	c.2398C>T	c.(2398-2400)Cac>Tac	p.H800Y		NM_004523.3	NP_004514.2	P52732	KIF11_HUMAN	kinesin family member 11	800					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|chromosome segregation (GO:0007059)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic centrosome separation (GO:0007100)|mitotic nuclear division (GO:0007067)|mitotic spindle organization (GO:0007052)|spindle assembly involved in mitosis (GO:0090307)|spindle organization (GO:0007051)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)|spindle (GO:0005819)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)|protein complex binding (GO:0032403)|protein kinase binding (GO:0019901)			breast(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						ATCTGTGAAACACTCTGATAA	0.353																																					Colon(47;212 1003 2764 4062 8431)	ENST00000260731.3																			0				breast(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(2398-2400)Cac>Tac		kinesin family member 11							68	69	69					10																	94405250		2203	4300	6503	SO:0001583	missense	3832				blood coagulation|cell division|microtubule-based movement|spindle assembly involved in mitosis	chromatin remodeling complex|cytosol|kinesin complex|microtubule|spindle pole	ATP binding|microtubule motor activity|protein kinase binding	g.chr10:94405250C>T	X85137	CCDS7422.1	10q24.1	2008-03-03	2003-01-09	2003-01-10	ENSG00000138160	ENSG00000138160		"Kinesins"	6388	protein-coding gene	gene with protein product		148760	"kinesin-like 1"	KNSL1		1505978, 8548803	Standard	NM_004523		Approved	Eg5, HKSP, TRIP5	uc001kic.3	P52732	OTTHUMG00000018761	ENST00000260731.3:c.2398C>T	10.37:g.94405250C>T	ENSP00000260731:p.His800Tyr						p.H800Y	NM_004523.3	NP_004514.2	P52732	KIF11_HUMAN			18	2488	+			800					A0AV49|B2RMV3|Q15716|Q5VWX0	Missense_Mutation	SNP	ENST00000260731.3	37	c.2398C>T	CCDS7422.1	.	.	.	.	.	.	.	.	.	.	C	0.797	-0.756724	0.03019	.	.	ENSG00000138160	ENST00000260731	T	0.72505	-0.66	6.08	2.24	0.28232	.	0.561084	0.21064	N	0.080764	T	0.54175	0.1842	L	0.29908	0.895	0.09310	N	1	B	0.16396	0.017	B	0.10450	0.005	T	0.44375	-0.9332	10	0.42905	T	0.14	.	7.4033	0.26977	0.0:0.6682:0.0:0.3318	.	800	P52732	KIF11_HUMAN	Y	800	ENSP00000260731:H800Y	ENSP00000260731:H800Y	H	+	1	0	KIF11	94395230	0.223000	0.23663	0.048000	0.18961	0.106000	0.19336	0.240000	0.18042	0.467000	0.27218	-0.216000	0.12614	CAC		0.353	KIF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049401.1	NM_004523		4	46	0	0	0	1	0	4	46					T	94405250	C	T	94405250	3	4	103	1	0	0	0	0	1	0	0	0	8272	478	17	3	2468	3	KIF11	10	94405250	Missense_Mutation	SNP	C	TCGA-EJ-7793-01A-31D-2260-08	8433132	94405250	41129497	11	5685											
ST5	6764	broad.mit.edu	37	chr11	8752316	8752316	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctgggcgacgcctctcggCgaccttcccatgctgatatc	5	10	10	16	4	1	1	0	1	1	0	5	3	3	1	4	2	1	1	4	2	1	2			TCGA-EJ-7793-01A-31D-2260-08	TCGA-EJ-7793-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9667b442-1eb3-4431-bece-f53abb42e5e6	9e145950-4c73-4ca2-a9a7-1e915b9268ec	g.chr11:8752316C>T	ENST00000534127.1	-	6	906	c.521G>A	c.(520-522)cGc>cAc	p.R174H	ST5_ENST00000357665.1_Missense_Mutation_p.R174H|ST5_ENST00000526757.1_Intron|ST5_ENST00000530438.1_Intron|ST5_ENST00000313726.6_Missense_Mutation_p.R174H	NM_005418.3	NP_005409.3	P78524	ST5_HUMAN	suppression of tumorigenicity 5	174					positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of Rab GTPase activity (GO:0032851)		Rab guanyl-nucleotide exchange factor activity (GO:0017112)			NS(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(13)|liver(1)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	39				Epithelial(150;2.63e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0352)		CGCCTCTCGGCGACCTTCCCA	0.706																																						ENST00000534127.1																			0				NS(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(13)|liver(1)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	39						c.(520-522)cGc>cAc		suppression of tumorigenicity 5							27	29	28					11																	8752316		2199	4271	6470	SO:0001583	missense	6764				positive regulation of ERK1 and ERK2 cascade		protein binding	g.chr11:8752316C>T	U15131	CCDS7791.1, CCDS7792.1	11p15	2012-10-04				ENSG00000166444		"DENN/MADD domain containing"	11350	protein-coding gene	gene with protein product	"DENN/MADD domain containing 2B"	140750				1390339	Standard	NM_005418		Approved	HTS1, DENND2B, p126	uc001mgt.3	P78524		ENST00000534127.1:c.521G>A	11.37:g.8752316C>T	ENSP00000433528:p.Arg174His					ST5_ENST00000530438.1_Intron|ST5_ENST00000357665.1_Missense_Mutation_p.R174H|ST5_ENST00000313726.6_Missense_Mutation_p.R174H|ST5_ENST00000526757.1_Intron	p.R174H	NM_005418.3	NP_005409.3	P78524	ST5_HUMAN		Epithelial(150;2.63e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0352)	6	906	-			174					B2R6X7|B3KXQ6|P78523|Q16492|Q7KYY2|Q7KZ12|Q8NE12|Q9BQQ6	Missense_Mutation	SNP	ENST00000534127.1	37	c.521G>A	CCDS7791.1	.	.	.	.	.	.	.	.	.	.	C	24.0	4.481162	0.84747	.	.	ENSG00000166444	ENST00000534127;ENST00000313726;ENST00000357665	T;T;T	0.27256	1.68;1.68;1.68	6.03	5.12	0.69794	.	0.049824	0.85682	D	0.000000	T	0.29783	0.0744	L	0.61218	1.895	0.58432	D	0.999993	B	0.23128	0.08	B	0.15052	0.012	T	0.07404	-1.0774	10	0.87932	D	0	-15.1838	15.343	0.74311	0.0:0.9334:0.0:0.0666	.	174	P78524	ST5_HUMAN	H	174	ENSP00000433528:R174H;ENSP00000319678:R174H;ENSP00000350294:R174H	ENSP00000319678:R174H	R	-	2	0	ST5	8708892	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.438000	0.80431	1.563000	0.49615	-0.140000	0.14226	CGC		0.706	ST5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386518.1	NM_005418		3	67	0	0	0	1	0	3	67					T	8752316	C	T	8752316	3	4	103	1	0	0	0	0	1	0	0	0	15219	768	27	1	2964	1	ST5	11	8752316	Missense_Mutation	SNP	C	TCGA-EJ-7793-01A-31D-2260-08		8752316	126254200	12	5686											
YARS2	51067	broad.mit.edu	37	chr12	32903753	32903753	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttctggctctttgacatgcaGctgcatgatatgatcaatct	9	15	8	9	0	4	3	1	3	3	0	4	3	4	3	0	1	3	4	0	1	2	3			TCGA-EJ-7793-01A-31D-2260-08	TCGA-EJ-7793-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9667b442-1eb3-4431-bece-f53abb42e5e6	9e145950-4c73-4ca2-a9a7-1e915b9268ec	g.chr12:32903753G>A	ENST00000324868.8	-	3	1030	c.1003C>T	c.(1003-1005)Ctg>Ttg	p.L335L	YARS2_ENST00000551673.1_5'Flank	NM_001040436.2	NP_001035526.1	Q9Y2Z4	SYYM_HUMAN	tyrosyl-tRNA synthetase 2, mitochondrial	335					gene expression (GO:0010467)|mitochondrial tyrosyl-tRNA aminoacylation (GO:0070184)|translation (GO:0006412)|tRNA aminoacylation (GO:0043039)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|tRNA binding (GO:0000049)|tyrosine binding (GO:0072545)|tyrosine-tRNA ligase activity (GO:0004831)			endometrium(1)|large_intestine(4)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	16	Lung NSC(5;2.43e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)				L-Tyrosine(DB00135)	TTGACATGCAGCTGCATGATA	0.428																																						ENST00000324868.8																			0				endometrium(1)|large_intestine(4)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	16						c.(1003-1005)Ctg>Ttg		tyrosyl-tRNA synthetase 2, mitochondrial	L-Tyrosine(DB00135)						91	84	86					12																	32903753		2203	4300	6503	SO:0001819	synonymous_variant	51067				tyrosyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|protein binding|RNA binding|tyrosine-tRNA ligase activity	g.chr12:32903753G>A	AF132939	CCDS31770.1	12p11.21	2014-03-19	2007-02-23		ENSG00000139131	ENSG00000139131	6.1.1.1	"Aminoacyl tRNA synthetases / Class I"	24249	protein-coding gene	gene with protein product	"tyrosine tRNA ligase 2, mitochondrial"	610957				15779907, 15840810	Standard	NM_001040436		Approved	FLJ13995, CGI-04, mt-TyrRS	uc001rli.3	Q9Y2Z4	OTTHUMG00000169454	ENST00000324868.8:c.1003C>T	12.37:g.32903753G>A							p.L335L	NM_001040436.2	NP_001035526.1	Q9Y2Z4	SYYM_HUMAN			3	1030	-	Lung NSC(5;2.43e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)		335					D3DUW8|Q9H817	Silent	SNP	ENST00000324868.8	37	c.1003C>T	CCDS31770.1																																																																																				0.428	YARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404153.1	NM_015936		3	74	0	0	0	1	0	3	74					A	32903753	G	A	32903753	2	1	103	1	0	0	0	0	0	0	0	1	17465	962	34	3		3	YARS2	12	32903753	Silent	SNP	G	TCGA-EJ-7793-01A-31D-2260-08		32903753	100948142	13	5687											
C12orf64	283310	broad.mit.edu	37	chr12	80650233	80650233	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	agtcctaaccaaggcttcaaCctgaatggtaagaaacagtg	15	8	9	9	0	1	2	1	1	0	1	2	2	2	2	3	2	3	2	3	2	6	3			TCGA-EJ-7793-01A-31D-2260-08	TCGA-EJ-7793-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9667b442-1eb3-4431-bece-f53abb42e5e6	9e145950-4c73-4ca2-a9a7-1e915b9268ec	g.chr12:80650233C>A	ENST00000547103.1	+	16	1683	c.1677C>A	c.(1675-1677)aaC>aaA	p.N559K	OTOGL_ENST00000458043.2_Missense_Mutation_p.N559K			Q3ZCN5	OTOGL_HUMAN	otogelin-like	559	VWFD 2. {ECO:0000255|PROSITE- ProRule:PRU00580}.				L-arabinose metabolic process (GO:0046373)	extracellular region (GO:0005576)	alpha-L-arabinofuranosidase activity (GO:0046556)			breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						AAGGCTTCAACCTGAATGGTA	0.388																																						ENST00000458043.2																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						c.(1675-1677)aaC>aaA		otogelin-like							68	62	64					12																	80650233		1907	4117	6024	SO:0001583	missense	283310							g.chr12:80650233C>A	AK096852		12q21.31	2011-02-11	2011-02-11	2011-02-11	ENSG00000165899	ENSG00000165899			26901	protein-coding gene	gene with protein product		614925	"chromosome 12 open reading frame 64"	C12orf64			Standard	NM_173591		Approved	FLJ90579	uc001szd.3	Q3ZCN5	OTTHUMG00000150509	ENST00000547103.1:c.1677C>A	12.37:g.80650233C>A	ENSP00000447211:p.Asn559Lys					OTOGL_ENST00000547103.1_Missense_Mutation_p.N559K	p.N559K	NM_173591.3	NP_775862.3					16	1683	+								F8W0C3|Q495U8|Q8N8G5|Q8NC28	Missense_Mutation	SNP	ENST00000547103.1	37	c.1677C>A		.	.	.	.	.	.	.	.	.	.	C	10.84	1.463019	0.26248	.	.	ENSG00000165899	ENST00000547103;ENST00000458043	T;T	0.57436	0.4;0.4	5.66	0.131	0.14755	.	.	.	.	.	T	0.17066	0.0410	N	0.00661	-1.28	0.20074	N	0.999938	.	.	.	.	.	.	T	0.19063	-1.0317	7	0.30078	T	0.28	.	6.0626	0.19846	0.0:0.3439:0.1321:0.524	.	.	.	.	K	559	ENSP00000447211:N559K;ENSP00000400895:N559K	ENSP00000400895:N559K	N	+	3	2	OTOGL	79174364	0.216000	0.23585	0.978000	0.43139	0.933000	0.57130	0.342000	0.19926	0.063000	0.16370	-0.355000	0.07637	AAC		0.388	OTOGL-001	NOVEL	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000407438.1	NM_173591		2	11	1	0	1	1	1	2	11					A	80650233	C	A	80650233	3	1	103	1	0	0	0	0	1	0	0	0	1707	506	18	5	1739	5	C12orf64	12	80650233	Missense_Mutation	SNP	C	TCGA-EJ-7793-01A-31D-2260-08	47746480	80650233	53201662	14	5688											
OR4K14	122740	broad.mit.edu	37	chr14	20482441	20482441	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cattgaaaagtcacccgtcgGttttgcagtttcttcatagc	9	14	8	10	2	3	1	2	1	1	0	4	1	3	1	1	1	2	3	1	1	3	6			TCGA-EJ-7793-01A-31D-2260-08	TCGA-EJ-7793-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9667b442-1eb3-4431-bece-f53abb42e5e6	9e145950-4c73-4ca2-a9a7-1e915b9268ec	g.chr14:20482441G>C	ENST00000305045.2	-	1	911	c.912C>G	c.(910-912)aaC>aaG	p.N304K		NM_001004712.1	NP_001004712.1	Q8NGD5	OR4KE_HUMAN	olfactory receptor, family 4, subfamily K, member 14	304						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(20)|skin(6)	37	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2e-06)	GBM - Glioblastoma multiforme(265;0.00124)		TCACCCGTCGGTTTTGCAGTT	0.358																																						ENST00000305045.2																			0				breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(20)|skin(6)	37						c.(910-912)aaC>aaG		olfactory receptor, family 4, subfamily K, member 14							103	106	105					14																	20482441		2203	4300	6503	SO:0001583	missense	122740				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20482441G>C		CCDS32027.1	14q11.2	2013-09-23			ENSG00000169484	ENSG00000169484		"GPCR / Class A : Olfactory receptors"	15352	protein-coding gene	gene with protein product							Standard	NM_001004712		Approved		uc010tky.2	Q8NGD5	OTTHUMG00000170780	ENST00000305045.2:c.912C>G	14.37:g.20482441G>C	ENSP00000305011:p.Asn304Lys						p.N304K	NM_001004712.1	NP_001004712.1	Q8NGD5	OR4KE_HUMAN	Epithelial(56;4.65e-07)|all cancers(55;2e-06)	GBM - Glioblastoma multiforme(265;0.00124)	1	911	-	all_cancers(95;0.00108)		304					Q6IEU1|Q96R71	Missense_Mutation	SNP	ENST00000305045.2	37	c.912C>G	CCDS32027.1	.	.	.	.	.	.	.	.	.	.	.	5.095	0.203149	0.09704	.	.	ENSG00000169484	ENST00000305045	T	0.35048	1.33	4.01	-1.63	0.08345	.	0.740232	0.11429	N	0.565010	T	0.10723	0.0262	N	0.03050	-0.425	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.29488	-1.0010	10	0.07813	T	0.8	.	3.5422	0.07815	0.2973:0.0:0.2263:0.4764	.	304	Q8NGD5	OR4KE_HUMAN	K	304	ENSP00000305011:N304K	ENSP00000305011:N304K	N	-	3	2	OR4K14	19552281	0.825000	0.29262	0.001000	0.08648	0.165000	0.22458	0.327000	0.19663	-0.630000	0.05567	0.505000	0.49811	AAC		0.358	OR4K14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410343.1			5	142	0	0	0	1	0	5	142					C	20482441	G	C	20482441	3	2	103	1	0	0	0	0	1	0	0	0	11069	1252	44	5	23	5	OR4K14	14	20482441	Missense_Mutation	SNP	G	TCGA-EJ-7793-01A-31D-2260-08		20482441	86867099	15	5689											
CATSPER2	117155	broad.mit.edu	37	chr15	43924399	43924399	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	actgccctaactccatacctGcaaactcttgtaacttctta	11	13	3	14	0	2	0	0	0	2	0	3	0	3	0	3	0	6	2	3	0	5	6			TCGA-EJ-7793-01A-31D-2260-08	TCGA-EJ-7793-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9667b442-1eb3-4431-bece-f53abb42e5e6	9e145950-4c73-4ca2-a9a7-1e915b9268ec	g.chr15:43924399G>C	ENST00000321596.5	-	12	1758	c.1559C>G	c.(1558-1560)gCa>gGa	p.A520G	CATSPER2_ENST00000355438.2_3'UTR|CATSPER2_ENST00000354127.4_Missense_Mutation_p.A518G|CATSPER2_ENST00000381761.1_Missense_Mutation_p.A524G|STRC_ENST00000541030.1_Intron|CATSPER2_ENST00000396879.1_Missense_Mutation_p.A518G			Q96P56	CTSR2_HUMAN	cation channel, sperm associated 2	520					calcium ion import (GO:0070509)|cell differentiation (GO:0030154)|membrane depolarization during action potential (GO:0086010)|multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|single fertilization (GO:0007338)|sperm motility (GO:0030317)|sperm-egg recognition (GO:0035036)|spermatogenesis (GO:0007283)	CatSper complex (GO:0036128)|motile cilium (GO:0031514)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|voltage-gated calcium channel activity (GO:0005245)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	22		all_cancers(109;3.26e-15)|all_epithelial(112;1.48e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.56e-07)		CTCCATACCTGCAAACTCTTG	0.453																																						ENST00000396879.1																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	22						c.(1552-1554)gCa>gGa		cation channel, sperm associated 2							85	79	81					15																	43924399		2199	4297	6496	SO:0001583	missense	117155				cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	calcium channel activity|protein binding|voltage-gated ion channel activity	g.chr15:43924399G>C	AF411817	CCDS10099.1, CCDS32216.1, CCDS73714.1	15q15.3	2011-07-05			ENSG00000166762	ENSG00000166762		"Voltage-gated ion channels / Cation channels, sperm associated"	18810	protein-coding gene	gene with protein product		607249				11675491, 16382101	Standard	NM_172095		Approved		uc001zsh.3	Q96P56	OTTHUMG00000059902	ENST00000321596.5:c.1559C>G	15.37:g.43924399G>C	ENSP00000321463:p.Ala520Gly					CATSPER2_ENST00000321596.5_Missense_Mutation_p.A520G|STRC_ENST00000541030.1_Intron|CATSPER2_ENST00000381761.1_Missense_Mutation_p.A524G|CATSPER2_ENST00000355438.2_3'UTR|CATSPER2_ENST00000354127.4_Missense_Mutation_p.A518G	p.A518G			Q96P56	CTSR2_HUMAN		GBM - Glioblastoma multiforme(94;3.56e-07)	13	1665	-		all_cancers(109;3.26e-15)|all_epithelial(112;1.48e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)	520					Q8NHT9|Q96P54|Q96P55	Missense_Mutation	SNP	ENST00000321596.5	37	c.1553C>G	CCDS10099.1	.	.	.	.	.	.	.	.	.	.	G	19.81	3.897266	0.72639	.	.	ENSG00000166762	ENST00000396879;ENST00000299989;ENST00000381761;ENST00000321596;ENST00000354127	D;D;D;D	0.97642	-4.45;-4.47;-4.46;-4.45	4.43	4.43	0.53597	.	0.000000	0.56097	D	0.000023	D	0.97914	0.9314	M	0.76574	2.34	0.80722	D	1	D;D	0.89917	1.0;0.988	D;P	0.71414	0.973;0.868	D	0.98072	1.0399	10	0.72032	D	0.01	.	12.7914	0.57537	0.0:0.0:1.0:0.0	.	524;520	F8W9H2;Q96P56	.;CTSR2_HUMAN	G	518;520;524;520;518	ENSP00000380088:A518G;ENSP00000371180:A524G;ENSP00000321463:A520G;ENSP00000339137:A518G	ENSP00000299989:A520G	A	-	2	0	CATSPER2	41711691	1.000000	0.71417	1.000000	0.80357	0.860000	0.49131	5.580000	0.67464	2.446000	0.82766	0.644000	0.83932	GCA		0.453	CATSPER2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000133151.2	NM_054020		3	77	0	0	0	1	0	3	77					C	43924399	G	C	43924399	3	2	103	1	0	0	0	0	1	0	0	0	2688	1319	46	5	41	5	CATSPER2	15	43924399	Missense_Mutation	SNP	G	TCGA-EJ-7793-01A-31D-2260-08		43924399	58606993	16	5690											
USP50	373509	broad.mit.edu	37	chr15	50833426	50833426	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcagcatctctgagtagaTcctttctcatatgatcttct	8	16	6	11	0	4	3	1	2	4	1	7	3	5	3	1	0	2	3	1	0	2	4			TCGA-EJ-7793-01A-31D-2260-08	TCGA-EJ-7793-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9667b442-1eb3-4431-bece-f53abb42e5e6	9e145950-4c73-4ca2-a9a7-1e915b9268ec	g.chr15:50833426T>C	ENST00000532404.1	-	4	653	c.480A>G	c.(478-480)ggA>ggG	p.G160G	USP50_ENST00000530218.1_Intron	NM_203494.4	NP_987090.2	Q70EL3	UBP50_HUMAN	ubiquitin specific peptidase 50	165	USP.				ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitinyl hydrolase activity (GO:0036459)			breast(1)|kidney(2)|large_intestine(4)|liver(1)|lung(5)	13				all cancers(107;0.000519)|GBM - Glioblastoma multiforme(94;0.00288)		TCTGAGTAGATCCTTTCTCAT	0.393																																						ENST00000532404.1																			0				breast(1)|kidney(2)|large_intestine(4)|liver(1)|lung(5)	13						c.(478-480)ggA>ggG		ubiquitin specific peptidase 50							111	106	107					15																	50833426		1916	4123	6039	SO:0001819	synonymous_variant	373509				ubiquitin-dependent protein catabolic process		ubiquitin thiolesterase activity	g.chr15:50833426T>C	AI990110	CCDS53944.1	15q21.1	2008-02-05	2005-08-08			ENSG00000170236		"Ubiquitin-specific peptidases"	20079	protein-coding gene	gene with protein product			"ubiquitin specific protease 50"			12838346	Standard	NM_203494		Approved		uc021sky.1	Q70EL3		ENST00000532404.1:c.480A>G	15.37:g.50833426T>C						USP50_ENST00000530218.1_Intron	p.G160G	NM_203494.4	NP_987090.2	E9PP86	E9PP86_HUMAN		all cancers(107;0.000519)|GBM - Glioblastoma multiforme(94;0.00288)	4	653	-			160					E9PP86	Silent	SNP	ENST00000532404.1	37	c.480A>G	CCDS53944.1																																																																																				0.393	USP50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395249.1			3	75	0	0	0	1	0	3	75					C	50833426	T	C	50833426	2	2	103	1	0	0	0	0	0	0	0	1	17079	1422	50	4		4	USP50	15	50833426	Silent	SNP	T	TCGA-EJ-7793-01A-31D-2260-08	6909027	50833426	51697966	17	5691											
CANT1	124583	broad.mit.edu	37	chr17	76993313	76993313	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctgacagggtcaggtagcccTttttcaggtaactgaaccag	10	10	11	10	0	2	2	2	2	0	0	2	2	2	2	2	3	3	2	2	3	3	4			TCGA-EJ-7793-01A-31D-2260-08	TCGA-EJ-7793-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9667b442-1eb3-4431-bece-f53abb42e5e6	9e145950-4c73-4ca2-a9a7-1e915b9268ec	g.chr17:76993313T>C	ENST00000302345.2	-	2	886	c.392A>G	c.(391-393)aAg>aGg	p.K131R	CANT1_ENST00000591732.1_5'Flank|CANT1_ENST00000392446.5_Missense_Mutation_p.K131R|CANT1_ENST00000591773.1_Missense_Mutation_p.K131R	NM_001159773.1|NM_138793.3	NP_001153245.1|NP_620148.1	Q8WVQ1	CANT1_HUMAN	calcium activated nucleotidase 1	131					positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|proteoglycan biosynthetic process (GO:0030166)|signal transduction (GO:0007165)	endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|signal transducer activity (GO:0004871)|uridine-diphosphatase activity (GO:0045134)		CANT1/ETV4(3)	cervix(1)|endometrium(1)|large_intestine(2)|lung(10)|prostate(1)|skin(1)	16			BRCA - Breast invasive adenocarcinoma(99;0.0362)|OV - Ovarian serous cystadenocarcinoma(97;0.139)			CAGGTAGCCCTTTTTCAGGTA	0.577			T	ETV4	prostate																																	ENST00000302345.2				Dom	yes		17	17q25	124583	T	calcium activated nucleotidase 1			E	ETV4		prostate	CANT1/ETV4(3)	0				cervix(1)|endometrium(1)|large_intestine(2)|lung(10)|prostate(1)|skin(1)	16						c.(391-393)aAg>aGg		calcium activated nucleotidase 1							184	181	182					17																	76993313		2203	4300	6503	SO:0001583	missense	124583				positive regulation of I-kappaB kinase/NF-kappaB cascade	endoplasmic reticulum membrane|Golgi cisterna membrane|integral to membrane	calcium ion binding|nucleoside-diphosphatase activity|signal transducer activity	g.chr17:76993313T>C	AJ312208	CCDS11760.1	17q25.3	2008-02-05	2004-10-12	2004-10-15		ENSG00000171302			19721	protein-coding gene	gene with protein product	"Soluble Ca-Activated Nucleotidase, isozyme 1"	613165				12167635	Standard	NM_138793		Approved	SHAPY, SCAN-1	uc002jwk.3	Q8WVQ1		ENST00000302345.2:c.392A>G	17.37:g.76993313T>C	ENSP00000307674:p.Lys131Arg					CANT1_ENST00000392446.5_Missense_Mutation_p.K131R|CANT1_ENST00000591773.1_Missense_Mutation_p.K131R	p.K131R	NM_001159773.1|NM_138793.3	NP_001153245.1|NP_620148.1	Q8WVQ1	CANT1_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0362)|OV - Ovarian serous cystadenocarcinoma(97;0.139)		2	886	-			131					B4DJ54|Q7Z2J7|Q8NG05|Q8NHP0|Q9BSD5	Missense_Mutation	SNP	ENST00000302345.2	37	c.392A>G	CCDS11760.1	.	.	.	.	.	.	.	.	.	.	T	10.97	1.501139	0.26861	.	.	ENSG00000171302	ENST00000302345;ENST00000392446;ENST00000537282;ENST00000339300	D;D	0.85773	-2.03;-2.03	5.27	4.19	0.49359	.	0.099573	0.64402	D	0.000002	T	0.71065	0.3296	N	0.20357	0.565	0.50632	D	0.999887	B	0.06786	0.001	B	0.10450	0.005	T	0.59440	-0.7454	10	0.13108	T	0.6	-30.8089	8.2417	0.31665	0.0:0.1541:0.0:0.8459	.	131	Q8WVQ1	CANT1_HUMAN	R	131;131;131;80	ENSP00000307674:K131R;ENSP00000376241:K131R	ENSP00000307674:K131R	K	-	2	0	CANT1	74504908	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	1.832000	0.39151	0.845000	0.35118	0.459000	0.35465	AAG		0.577	CANT1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437723.2	NM_138793		5	377	0	0	0	1	0	5	377					C	76993313	T	C	76993313	3	2	103	1	0	0	0	0	1	0	0	0	2617	1609	56	4	825	4	CANT1	17	76993313	Missense_Mutation	SNP	T	TCGA-EJ-7793-01A-31D-2260-08		76993313	4201897	18	5692											
WDR83	84292	broad.mit.edu	37	chr19	12780686	12780686	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggactgcgggcagggggcaGtgcgagccgtacgatttaat	8	8	17	8	4	0	0	0	0	0	0	0	3	0	1	1	4	4	3	1	4	2	3			TCGA-EJ-7793-01A-31D-2260-08	TCGA-EJ-7793-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9667b442-1eb3-4431-bece-f53abb42e5e6	9e145950-4c73-4ca2-a9a7-1e915b9268ec	g.chr19:12780686G>A	ENST00000418543.3	+	3	431	c.82G>A	c.(82-84)Gtg>Atg	p.V28M	WDR83OS_ENST00000600694.1_5'Flank|WDR83OS_ENST00000222190.5_5'Flank|WDR83_ENST00000242796.4_Missense_Mutation_p.V28M|CTD-2192J16.24_ENST00000597961.1_5'Flank|WDR83OS_ENST00000596731.1_5'UTR	NM_001099737.2	NP_001093207.1	Q9BRX9	WDR83_HUMAN	WD repeat domain 83	28					mRNA splicing, via spliceosome (GO:0000398)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|spliceosomal complex (GO:0005681)				breast(2)|large_intestine(1)|lung(1)	4						GCAGGGGGCAGTGCGAGCCGT	0.637																																						ENST00000418543.3																			0				breast(2)|large_intestine(1)|lung(1)	4						c.(82-84)Gtg>Atg		WD repeat domain 83							56	67	63					19																	12780686		2202	4300	6502	SO:0001583	missense	84292				nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|cytoplasm		g.chr19:12780686G>A	AK074525	CCDS12275.1	19p13.13	2013-01-09			ENSG00000123154	ENSG00000123154		"WD repeat domain containing"	32672	protein-coding gene	gene with protein product	"MAPK organizer 1"					15118098, 16407229	Standard	NM_032332		Approved	MORG1	uc010dyw.3	Q9BRX9	OTTHUMG00000169356	ENST00000418543.3:c.82G>A	19.37:g.12780686G>A	ENSP00000402653:p.Val28Met					WDR83_ENST00000242796.4_Missense_Mutation_p.V28M|WDR83OS_ENST00000596731.1_5'UTR	p.V28M	NM_001099737.2	NP_001093207.1	Q9BRX9	WDR83_HUMAN			3	431	+			28					B2RAF1|Q53FT6	Missense_Mutation	SNP	ENST00000418543.3	37	c.82G>A	CCDS12275.1	.	.	.	.	.	.	.	.	.	.	G	27.2	4.813952	0.90790	.	.	ENSG00000123154	ENST00000418543;ENST00000242796	T;T	0.73897	-0.79;-0.79	4.99	4.99	0.66335	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.053141	0.64402	D	0.000001	D	0.88362	0.6416	M	0.90705	3.14	0.58432	D	0.999999	D	0.69078	0.997	D	0.67900	0.954	D	0.90581	0.4529	10	0.87932	D	0	.	17.9165	0.88953	0.0:0.0:1.0:0.0	.	28	Q9BRX9	WDR83_HUMAN	M	28	ENSP00000402653:V28M;ENSP00000242796:V28M	ENSP00000242796:V28M	V	+	1	0	WDR83	12641686	1.000000	0.71417	0.988000	0.46212	0.942000	0.58702	6.127000	0.71642	2.709000	0.92574	0.655000	0.94253	GTG		0.637	WDR83-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403648.1	NM_032332		3	137	0	0	0	1	0	3	137					A	12780686	G	A	12780686	3	1	103	1	0	0	0	0	1	0	0	0	17329	1029	36	3	84	3	WDR83	19	12780686	Missense_Mutation	SNP	G	TCGA-EJ-7793-01A-31D-2260-08		12780686	46348297	19	5693											
SSBP4	170463	broad.mit.edu	37	chr19	18543390	18543390	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcccaggagttcgtggcccGtgggccagccccagtggaaa	7	5	16	13	2	0	0	0	0	0	0	1	2	0	2	5	5	1	1	5	5	1	1	rs368585392		TCGA-EJ-7793-01A-31D-2260-08	TCGA-EJ-7793-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9667b442-1eb3-4431-bece-f53abb42e5e6	9e145950-4c73-4ca2-a9a7-1e915b9268ec	g.chr19:18543390G>A	ENST00000270061.7	+	11	1020	c.726G>A	c.(724-726)ccG>ccA	p.P242P	SSBP4_ENST00000599699.2_5'Flank|SSBP4_ENST00000348495.6_Silent_p.P220P	NM_032627.4	NP_116016.1	Q9BWG4	SSBP4_HUMAN	single stranded DNA binding protein 4	242	Pro-rich.					nucleus (GO:0005634)	single-stranded DNA binding (GO:0003697)			endometrium(2)|kidney(1)|skin(1)	4						TTCGTGGCCCGTGGGCCAGCC	0.667													G|||	1	0.000199681	8e-04	0	5008	,	,		11400	0		0	False		,,,				2504	0					ENST00000270061.6																			0				endometrium(2)|kidney(1)|skin(1)	4						c.(724-726)ccG>ccA		single stranded DNA binding protein 4		G	,	2,4404	4.2+/-10.8	0,2,2201	42	48	46		660,726	-8	0.1	19		46	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	SSBP4	NM_001009998.3,NM_032627.4	,	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	,	220/364,242/386	18543390	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	170463					nucleus	single-stranded DNA binding	g.chr19:18543390G>A		CCDS12378.1, CCDS32960.1	19p13.1	2008-02-05				ENSG00000130511			15676	protein-coding gene	gene with protein product		607391				12079286	Standard	NM_032627		Approved		uc002niy.3	Q9BWG4		ENST00000270061.7:c.726G>A	19.37:g.18543390G>A						SSBP4_ENST00000348495.5_Silent_p.P220P	p.P242P	NM_032627.4	NP_116016.1	Q9BWG4	SSBP4_HUMAN			11	946	+			242			Pro-rich.		Q9BWW5	Silent	SNP	ENST00000270061.7	37	c.726G>A	CCDS12378.1																																																																																				0.667	SSBP4-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000466348.3	NM_032627		3	116	0	0	0	1	0	3	116					A	18543390	G	A	18543390	2	1	103	1	0	0	0	0	0	0	0	1	15181	1132	40	1		1	SSBP4	19	18543390	Silent	SNP	G	TCGA-EJ-7793-01A-31D-2260-08	5762704	18543390	40585593	20	5694											
PPFIA3	8541	broad.mit.edu	37	chr19	49646094	49646094	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcctgcctggtatgtggccGcctgccgggccaatgtcaag	5	9	14	13	2	1	0	1	0	0	0	1	0	1	0	6	3	3	1	6	3	3	1			TCGA-EJ-7793-01A-31D-2260-08	TCGA-EJ-7793-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9667b442-1eb3-4431-bece-f53abb42e5e6	9e145950-4c73-4ca2-a9a7-1e915b9268ec	g.chr19:49646094G>A	ENST00000334186.4	+	21	2927	c.2578G>A	c.(2578-2580)Gcc>Acc	p.A860T	PPFIA3_ENST00000602351.1_Missense_Mutation_p.A860T	NM_003660.2	NP_003651.1	O75145	LIPA3_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 3	860	SAM 1. {ECO:0000255|PROSITE- ProRule:PRU00184}.				cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|presynaptic active zone (GO:0048786)				NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(16)|pancreas(1)|prostate(1)|skin(4)|urinary_tract(1)	35		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.36e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000203)|GBM - Glioblastoma multiforme(486;0.00307)|Epithelial(262;0.00677)		GTATGTGGCCGCCTGCCGGGC	0.627																																						ENST00000334186.4																			0				NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(16)|pancreas(1)|prostate(1)|skin(4)|urinary_tract(1)	35						c.(2578-2580)Gcc>Acc		protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 3							77	70	72					19																	49646094		2203	4300	6503	SO:0001583	missense	8541					cell surface|cytoplasm	protein binding	g.chr19:49646094G>A	AF034800	CCDS12758.1	19q13.33	2013-09-23			ENSG00000177380	ENSG00000177380		"Sterile alpha motif (SAM) domain containing"	9247	protein-coding gene	gene with protein product	"protein tyrosine phosphatase, receptor type, f polypeptide, alpha 3", "liprin-alpha 3", "liprin"	603144				9624153, 9734811	Standard	NM_003660		Approved	KIAA0654, LPNA3, MGC126567, MGC126569	uc002pmr.3	O75145	OTTHUMG00000183213	ENST00000334186.4:c.2578G>A	19.37:g.49646094G>A	ENSP00000335614:p.Ala860Thr					PPFIA3_ENST00000602351.1_Missense_Mutation_p.A860T	p.A860T	NM_003660.2	NP_003651.1	O75145	LIPA3_HUMAN		all cancers(93;2.36e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000203)|GBM - Glioblastoma multiforme(486;0.00307)|Epithelial(262;0.00677)	21	2927	+		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)	860			SAM 1.		A8K142|Q3MJA0|Q9H8B5|Q9UEW4	Missense_Mutation	SNP	ENST00000334186.4	37	c.2578G>A	CCDS12758.1	.	.	.	.	.	.	.	.	.	.	G	32	5.148319	0.94603	.	.	ENSG00000177380	ENST00000334186	T	0.47869	0.83	4.45	3.38	0.38709	Sterile alpha motif domain (2);Sterile alpha motif/pointed domain (2);Sterile alpha motif, type 1 (1);	0.275037	0.23616	N	0.046294	T	0.56156	0.1966	L	0.54323	1.7	0.80722	D	1	D;D	0.71674	0.978;0.998	P;P	0.56088	0.467;0.791	T	0.60541	-0.7243	10	0.87932	D	0	-5.4954	12.8556	0.57884	0.0:0.0:0.8347:0.1653	.	860;860	O75145-2;O75145	.;LIPA3_HUMAN	T	860	ENSP00000335614:A860T	ENSP00000335614:A860T	A	+	1	0	PPFIA3	54337906	1.000000	0.71417	0.998000	0.56505	0.907000	0.53573	7.956000	0.87863	0.968000	0.38212	0.449000	0.29647	GCC		0.627	PPFIA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465688.1	NM_003660		3	159	0	0	0	1	0	3	159					A	49646094	G	A	49646094	3	1	103	1	0	0	0	0	1	0	0	0	12311	1087	38	1	2656	1	PPFIA3	19	49646094	Missense_Mutation	SNP	G	TCGA-EJ-7793-01A-31D-2260-08	31102704	49646094	9482889	21	5695											
TRPM4	54795	broad.mit.edu	37	chr19	49671826	49671826	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctagggctcgttccctgcgaGgtaccggtggcgcggtgacc	4	8	16	13	5	0	1	0	1	0	0	2	2	1	1	3	5	2	3	3	5	2	3			TCGA-EJ-7793-01A-31D-2260-08	TCGA-EJ-7793-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9667b442-1eb3-4431-bece-f53abb42e5e6	9e145950-4c73-4ca2-a9a7-1e915b9268ec	g.chr19:49671826G>A	ENST00000252826.5	+	6	755	c.629G>A	c.(628-630)aGg>aAg	p.R210K	TRPM4_ENST00000427978.2_Missense_Mutation_p.R210K|TRPM4_ENST00000355712.5_5'UTR	NM_017636.3	NP_060106.2	Q8TD43	TRPM4_HUMAN	transient receptor potential cation channel, subfamily M, member 4	210					calcium ion transmembrane transport (GO:0070588)|cardiac conduction (GO:0061337)|dendritic cell chemotaxis (GO:0002407)|ion transmembrane transport (GO:0034220)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell proliferation (GO:0008284)|protein sumoylation (GO:0016925)|regulation of membrane potential (GO:0042391)|regulation of T cell cytokine production (GO:0002724)|transmembrane transport (GO:0055085)|vasoconstriction (GO:0042310)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium activated cation channel activity (GO:0005227)|calcium channel activity (GO:0005262)			breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(18)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	49		all_lung(116;8.54e-05)|Lung NSC(112;0.000139)|all_neural(266;0.0506)|Ovarian(192;0.15)		all cancers(93;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000222)|GBM - Glioblastoma multiforme(486;0.00339)|Epithelial(262;0.00751)		TTCCCTGCGAGGTACCGGTGG	0.647																																						ENST00000252826.5																			0				breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(18)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	49						c.(628-630)aGg>aAg		transient receptor potential cation channel, subfamily M, member 4							52	50	51					19																	49671826		2203	4300	6503	SO:0001583	missense	54795				dendritic cell chemotaxis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell proliferation|protein sumoylation|regulation of T cell cytokine production	endoplasmic reticulum|Golgi apparatus|integral to membrane|plasma membrane	ATP binding|calcium activated cation channel activity|calmodulin binding	g.chr19:49671826G>A	AK000048	CCDS33073.1, CCDS56098.1	19q13.3	2011-12-14				ENSG00000130529		"Voltage-gated ion channels / Transient receptor potential cation channels"	17993	protein-coding gene	gene with protein product		606936				11535825, 16382100	Standard	NM_017636		Approved	FLJ20041	uc002pmw.3	Q8TD43		ENST00000252826.5:c.629G>A	19.37:g.49671826G>A	ENSP00000252826:p.Arg210Lys					TRPM4_ENST00000427978.2_Missense_Mutation_p.R210K|TRPM4_ENST00000355712.5_5'UTR	p.R210K	NM_017636.3	NP_060106.2	Q8TD43	TRPM4_HUMAN		all cancers(93;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000222)|GBM - Glioblastoma multiforme(486;0.00339)|Epithelial(262;0.00751)	6	755	+		all_lung(116;8.54e-05)|Lung NSC(112;0.000139)|all_neural(266;0.0506)|Ovarian(192;0.15)	210					A2RU25|Q7Z5D9|Q96L84|Q9NXV1	Missense_Mutation	SNP	ENST00000252826.5	37	c.629G>A	CCDS33073.1	.	.	.	.	.	.	.	.	.	.	G	3.030	-0.199895	0.06219	.	.	ENSG00000130529	ENST00000252826;ENST00000427978	T;T	0.59906	0.23;0.23	5.06	-2.13	0.07144	.	0.381469	0.25932	N	0.027361	T	0.25457	0.0619	N	0.12182	0.205	0.09310	N	0.999995	B;B;B	0.09022	0.001;0.001;0.002	B;B;B	0.09377	0.004;0.004;0.001	T	0.28713	-1.0035	10	0.02654	T	1	-11.9865	5.5276	0.16967	0.382:0.1339:0.4841:0.0	.	36;210;210	Q8TD43-2;Q8TD43-3;Q8TD43	.;.;TRPM4_HUMAN	K	210	ENSP00000252826:R210K;ENSP00000407492:R210K	ENSP00000252826:R210K	R	+	2	0	TRPM4	54363638	0.004000	0.15560	0.002000	0.10522	0.001000	0.01503	0.407000	0.21049	-0.176000	0.10707	-1.371000	0.01190	AGG		0.647	TRPM4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465543.2	NM_017636		3	94	0	0	0	1	0	3	94					A	49671826	G	A	49671826	3	1	103	1	0	0	0	0	1	0	0	0	16585	1000	35	3	651	3	TRPM4	19	49671826	Missense_Mutation	SNP	G	TCGA-EJ-7793-01A-31D-2260-08	25732	49671826	9457157	22	5696											
SON	6651	broad.mit.edu	37	chr21	34931659	34931659	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctttaaactcagtgaacccAaacctatttttttcaatctg	12	15	3	11	0	3	1	2	1	1	0	3	1	3	1	3	0	3	0	3	0	6	6			TCGA-EJ-7793-01A-31D-2260-08	TCGA-EJ-7793-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9667b442-1eb3-4431-bece-f53abb42e5e6	9e145950-4c73-4ca2-a9a7-1e915b9268ec	g.chr21:34931659A>C	ENST00000356577.4	+	5	6920	c.6445A>C	c.(6445-6447)Aaa>Caa	p.K2149Q	SON_ENST00000290239.6_Missense_Mutation_p.K2149Q|SON_ENST00000300278.4_Missense_Mutation_p.K2149Q|SON_ENST00000381692.2_Missense_Mutation_p.K177Q	NM_138927.1	NP_620305	P18583	SON_HUMAN	SON DNA binding protein	2149					cytokinesis (GO:0000910)|microtubule cytoskeleton organization (GO:0000226)|mRNA processing (GO:0006397)|negative regulation of apoptotic process (GO:0043066)|regulation of cell cycle (GO:0051726)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nuclear speck (GO:0016607)|nucleus (GO:0005634)	DNA binding (GO:0003677)|nucleic acid binding (GO:0003676)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(3)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(25)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	72						CAGTGAACCCAAACCTATTTT	0.323																																						ENST00000356577.4																			0				breast(3)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(25)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	72						c.(6445-6447)Aaa>Caa		SON DNA binding protein							144	148	147					21																	34931659		2203	4298	6501	SO:0001583	missense	6651				anti-apoptosis|cytokinesis|mRNA processing|regulation of cell cycle|regulation of RNA splicing|RNA splicing|spindle pole body separation	nuclear speck	DNA binding|double-stranded RNA binding	g.chr21:34931659A>C	AF380181	CCDS13629.1, CCDS13631.1, CCDS74784.1	21q22.1-q22.2	2013-01-28			ENSG00000159140	ENSG00000159140		"G patch domain containing"	11183	protein-coding gene	gene with protein product	"NRE-binding protein", "negative regulatory element-binding protein", "Bax antagonist selected in Saccharomyces 1"	182465		C21orf50		8318737, 21551269	Standard	NM_032195		Approved	DBP-5, NREBP, KIAA1019, BASS1, FLJ21099, FLJ33914	uc002yse.1	P18583	OTTHUMG00000065806	ENST00000356577.4:c.6445A>C	21.37:g.34931659A>C	ENSP00000348984:p.Lys2149Gln					SON_ENST00000300278.4_Missense_Mutation_p.K2149Q|SON_ENST00000381692.2_Missense_Mutation_p.K177Q|SON_ENST00000290239.6_Missense_Mutation_p.K2149Q	p.K2149Q	NM_138927.1	NP_620305.1	P18583	SON_HUMAN			5	6920	+			2149					D3DSF5|D3DSF6|E7ETE8|E7EU67|E7EVW3|E9PFQ2|O14487|O95981|Q14120|Q6PKE0|Q9H7B1|Q9P070|Q9P072|Q9UKP9|Q9UPY0	Missense_Mutation	SNP	ENST00000356577.4	37	c.6445A>C	CCDS13629.1	.	.	.	.	.	.	.	.	.	.	A	13.44	2.238878	0.39598	.	.	ENSG00000159140	ENST00000356577;ENST00000290239;ENST00000381692;ENST00000300278;ENST00000421541	T;T;T	0.11930	2.78;2.76;2.73	5.4	5.4	0.78164	.	0.000000	0.64402	D	0.000018	T	0.32763	0.0840	L	0.50333	1.59	0.43846	D	0.996436	D;D;D;D;D	0.89917	1.0;0.985;0.999;1.0;1.0	D;P;D;D;D	0.91635	0.999;0.636;0.994;0.999;0.997	T	0.02275	-1.1184	10	0.66056	D	0.02	.	15.7192	0.77694	1.0:0.0:0.0:0.0	.	2149;177;2149;1830;2149	P18583-10;Q6ZRV7;P18583;P18583-2;P18583-3	.;.;SON_HUMAN;.;.	Q	2149;2149;177;2149;210	ENSP00000348984:K2149Q;ENSP00000290239:K2149Q;ENSP00000300278:K2149Q	ENSP00000290239:K2149Q	K	+	1	0	SON	33853529	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.524000	0.81866	2.175000	0.68902	0.528000	0.53228	AAA		0.323	SON-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000140978.2	NM_138927		12	95	0	0	0	1	0	12	95					C	34931659	A	C	34931659	3	2	103	1	0	0	0	0	1	0	0	0	14926	131	5	5	6463	5	SON	21	34931659	Missense_Mutation	SNP	A	TCGA-EJ-7793-01A-31D-2260-08		34931659	13198236	23	5697											
TMPRSS2	7113	broad.mit.edu	37	chr21	42843813	42843813	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agtcataatttggatgagaaAtcactttttctacttggtat	12	17	7	5	0	3	1	2	1	1	1	3	3	3	2	0	2	1	1	0	2	4	7			TCGA-EJ-7793-01A-31D-2260-08	TCGA-EJ-7793-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9667b442-1eb3-4431-bece-f53abb42e5e6	9e145950-4c73-4ca2-a9a7-1e915b9268ec	g.chr21:42843813A>T	ENST00000332149.5	-	10	1129	c.995T>A	c.(994-996)aTt>aAt	p.I332N	TMPRSS2_ENST00000398585.3_Missense_Mutation_p.I369N|TMPRSS2_ENST00000458356.1_Missense_Mutation_p.I332N	NM_005656.3	NP_005647.3	O15393	TMPS2_HUMAN	transmembrane protease, serine 2	332	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				positive regulation of viral entry into host cell (GO:0046598)|protein autoprocessing (GO:0016540)|proteolysis (GO:0006508)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)		TMPRSS2/ETV1(34)|TMPRSS2/ETV5_ENST00000306376(5)|TMPRSS2/ERG(3582)|TMPRSS2/ETV4(13)	central_nervous_system(1)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	4		Prostate(19;4.48e-07)|all_epithelial(19;0.031)				TGGATGAGAAATCACTTTTTC	0.458			T	"ERG, ETV1, ETV4, ETV5"	prostate																																	ENST00000398585.3				Dom	yes		21	21q22.3	7113	T	"transmembrane protease, serine 2"			E	"ERG, ETV1, ETV4, ETV5"		prostate	TMPRSS2/ETV1(34)|TMPRSS2/ETV5_ENST00000306376(5)|TMPRSS2/ERG(3582)|TMPRSS2/ETV4(13)	0				central_nervous_system(1)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	4						c.(1105-1107)aTt>aAt		transmembrane protease, serine 2							167	155	159					21																	42843813		2202	4299	6501	SO:0001583	missense	0				proteolysis	cytoplasm|extracellular region|integral to plasma membrane	scavenger receptor activity|serine-type endopeptidase activity	g.chr21:42843813A>T	U75329	CCDS33564.1, CCDS54486.1	21q22.3	2010-04-13			ENSG00000184012	ENSG00000184012		"Serine peptidases / Transmembrane"	11876	protein-coding gene	gene with protein product		602060				9325052	Standard	NM_005656		Approved	PRSS10	uc010gor.3	O15393	OTTHUMG00000086762	ENST00000332149.5:c.995T>A	21.37:g.42843813A>T	ENSP00000330330:p.Ile332Asn					TMPRSS2_ENST00000458356.1_Missense_Mutation_p.I332N|TMPRSS2_ENST00000332149.5_Missense_Mutation_p.I332N	p.I369N	NM_001135099.1	NP_001128571.1	O15393	TMPS2_HUMAN			10	1166	-		Prostate(19;4.48e-07)|all_epithelial(19;0.031)	332			Peptidase S1.		A8K6Z8|B2R8E5|B7Z459|D3DSJ2|F8WES1|Q6GTK7|Q9BXX1	Missense_Mutation	SNP	ENST00000332149.5	37	c.1106T>A	CCDS33564.1	.	.	.	.	.	.	.	.	.	.	A	15.44	2.835637	0.50951	.	.	ENSG00000184012	ENST00000332149;ENST00000398585;ENST00000458356;ENST00000454499	D;D;D;D	0.90563	-2.69;-2.69;-2.69;-2.69	5.29	5.29	0.74685	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.64402	D	0.000002	D	0.95865	0.8654	M	0.89904	3.07	0.49915	D	0.99983	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.996	D	0.96543	0.9402	10	0.87932	D	0	.	13.198	0.59749	1.0:0.0:0.0:0.0	.	369;332	F8WES1;O15393	.;TMPS2_HUMAN	N	332;369;332;332	ENSP00000330330:I332N;ENSP00000381588:I369N;ENSP00000391216:I332N;ENSP00000389006:I332N	ENSP00000330330:I332N	I	-	2	0	TMPRSS2	41765683	1.000000	0.71417	0.223000	0.23860	0.119000	0.20118	7.852000	0.86927	1.998000	0.58463	0.533000	0.62120	ATT		0.458	TMPRSS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195189.1			3	56	0	0	0	1	0	3	56					T	42843813	A	T	42843813	3	4	103	1	0	0	0	0	1	0	0	0	16244	101	4	5	503	5	TMPRSS2	21	42843813	Missense_Mutation	SNP	A	TCGA-EJ-7793-01A-31D-2260-08	7912154	42843813	5286082	24	5698											
DPYD	1806	broad.mit.edu	37	chr1	97564055	97564055	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	taatttttaccttgatggtaGgaataggccttttggggata	10	16	11	4	0	0	1	0	1	0	0	0	3	0	3	2	5	1	1	2	5	6	10			TCGA-EJ-7794-01A-11D-2114-08	TCGA-EJ-7794-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72ce9985-5383-41a0-a73d-5284713c9bba	a72932e7-2901-4401-8f43-07c9a529e422	g.chr1:97564055G>A	ENST00000370192.3	-	21	2856	c.2756C>T	c.(2755-2757)cCt>cTt	p.P919L	DPYD-AS1_ENST00000422980.1_RNA	NM_000110.3	NP_000101	Q12882	DPYD_HUMAN	dihydropyrimidine dehydrogenase	919					beta-alanine biosynthetic process (GO:0019483)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase catabolic process (GO:0006145)|pyrimidine nucleobase catabolic process (GO:0006208)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|small molecule metabolic process (GO:0044281)|thymidine catabolic process (GO:0006214)|thymine catabolic process (GO:0006210)|UMP biosynthetic process (GO:0006222)|uracil catabolic process (GO:0006212)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	4 iron, 4 sulfur cluster binding (GO:0051539)|dihydroorotate dehydrogenase activity (GO:0004152)|dihydropyrimidine dehydrogenase (NADP+) activity (GO:0017113)|flavin adenine dinucleotide binding (GO:0050660)|metal ion binding (GO:0046872)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	83		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	Capecitabine(DB01101)|Flavin adenine dinucleotide(DB03147)|Fluorouracil(DB00544)	CTTGATGGTAGGAATAGGCCT	0.299																																						ENST00000370192.3																			0				NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	83						c.(2755-2757)cCt>cTt		dihydropyrimidine dehydrogenase	Capecitabine(DB01101)|Enfuvirtide(DB00109)						149	158	155					1																	97564055		2203	4300	6503	SO:0001583	missense	1806				'de novo' pyrimidine base biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|UMP biosynthetic process|uracil catabolic process	cytosol	4 iron, 4 sulfur cluster binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|NADP binding|protein homodimerization activity	g.chr1:97564055G>A	U20938	CCDS30777.1, CCDS53346.1	1p22	2014-09-17			ENSG00000188641	ENSG00000188641	1.3.1.2		3012	protein-coding gene	gene with protein product		612779				7713523	Standard	NM_000110		Approved	DPD	uc001drv.3	Q12882	OTTHUMG00000039683	ENST00000370192.3:c.2756C>T	1.37:g.97564055G>A	ENSP00000359211:p.Pro919Leu					DPYD-AS1_ENST00000422980.1_RNA	p.P919L	NM_000110.3	NP_000101.2	Q12882	DPYD_HUMAN		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	21	2856	-		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)	919					A2RRQ2|A2RRQ3|A8K5A2|A8MWG9|B1AN21|E9PFN1|Q16694|Q16761|Q32NB0|Q96HL6|Q96TH1	Missense_Mutation	SNP	ENST00000370192.3	37	c.2756C>T	CCDS30777.1	.	.	.	.	.	.	.	.	.	.	G	11.98	1.799760	0.31869	.	.	ENSG00000188641	ENST00000370192	D	0.90069	-2.61	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	T	0.82107	0.4965	L	0.46614	1.455	0.80722	D	1	P	0.39311	0.667	B	0.41236	0.351	T	0.82621	-0.0367	10	0.42905	T	0.14	-16.4842	12.6023	0.56504	0.0763:0.0:0.9237:0.0	.	919	Q12882	DPYD_HUMAN	L	919	ENSP00000359211:P919L	ENSP00000359211:P919L	P	-	2	0	DPYD	97336643	1.000000	0.71417	0.626000	0.29213	0.169000	0.22640	5.046000	0.64226	2.833000	0.97629	0.591000	0.81541	CCT		0.299	DPYD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095698.3	NM_000110		3	121	0	0	0	1	0	3	121					A	97564055	G	A	97564055	3	1	104	1	0	0	0	0	1	0	0	0	4745	1000	35	3	333	3	DPYD	1	97564055	Missense_Mutation	SNP	G	TCGA-EJ-7794-01A-11D-2114-08		97564055	151686566	1	5699											
UCK2	7371	broad.mit.edu	37	chr1	165872479	165872479	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gattttatctcagtacattaCgttcgtcaagcctgcctttg	8	16	7	10	2	2	0	2	0	1	0	4	1	2	0	2	0	4	2	2	0	4	6	rs36009659	byFrequency	TCGA-EJ-7794-01A-11D-2114-08	TCGA-EJ-7794-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72ce9985-5383-41a0-a73d-5284713c9bba	a72932e7-2901-4401-8f43-07c9a529e422	g.chr1:165872479C>A	ENST00000367879.4	+	5	863	c.560C>A	c.(559-561)aCg>aAg	p.T187K	UCK2_ENST00000462329.1_3'UTR|UCK2_ENST00000469256.2_Missense_Mutation_p.T37K|RP11-525G13.2_ENST00000455257.2_RNA|UCK2_ENST00000372212.4_3'UTR|UCK2_ENST00000470820.1_Missense_Mutation_p.T37K	NM_012474.4	NP_036606.2	Q9BZX2	UCK2_HUMAN	uridine-cytidine kinase 2	187					cellular response to oxygen levels (GO:0071453)|CTP salvage (GO:0044211)|feeding behavior (GO:0007631)|nucleobase-containing small molecule metabolic process (GO:0055086)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside salvage (GO:0043097)|response to axon injury (GO:0048678)|small molecule metabolic process (GO:0044281)|UMP salvage (GO:0044206)	cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)	ATP binding (GO:0005524)|nucleoside kinase activity (GO:0019206)|uridine kinase activity (GO:0004849)			breast(1)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	10	all_hematologic(923;0.048)|Acute lymphoblastic leukemia(8;0.155)					CAGTACATTACGTTCGTCAAG	0.383																																						ENST00000367879.4																			0				breast(1)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	10						c.(559-561)aCg>aAg		uridine-cytidine kinase 2							253	216	228					1																	165872479		2203	4300	6503	SO:0001583	missense	7371				pyrimidine base metabolic process|pyrimidine nucleoside salvage	cytosol	ATP binding|phosphotransferase activity, alcohol group as acceptor|uridine kinase activity	g.chr1:165872479C>A	AF236637	CCDS1252.1	1p32	2012-10-02	2004-07-13	2004-07-14	ENSG00000143179	ENSG00000143179	2.7.1.48		12562	protein-coding gene	gene with protein product		609329	"uridine monophosphate kinase"	UMPK			Standard	NM_012474		Approved		uc001gdp.3	Q9BZX2	OTTHUMG00000040117	ENST00000367879.4:c.560C>A	1.37:g.165872479C>A	ENSP00000356853:p.Thr187Lys					UCK2_ENST00000372212.4_3'UTR|UCK2_ENST00000479872.1_3'UTR	p.T187K	NM_012474.4	NP_036606.2	Q9BZX2	UCK2_HUMAN			5	863	+	all_hematologic(923;0.048)|Acute lymphoblastic leukemia(8;0.155)		187					Q5VV91|Q7KZV3|Q92528|Q96KG5|Q9BU42	Missense_Mutation	SNP	ENST00000367879.4	37	c.560C>A	CCDS1252.1	.	.	.	.	.	.	.	.	.	.	C	4.145	0.025302	0.08054	.	.	ENSG00000143179	ENST00000367879	.	.	.	4.83	2.98	0.34508	Phosphoribulokinase/uridine kinase (1);	0.048192	0.85682	D	0.000000	T	0.09555	0.0235	N	0.25144	0.715	0.58432	D	0.999997	B;B	0.25955	0.001;0.138	B;B	0.17722	0.011;0.019	T	0.20672	-1.0268	8	0.02654	T	1	-9.009	8.6162	0.33833	0.0:0.8158:0.0:0.1842	.	37;187	Q9BZX2-2;Q9BZX2	.;UCK2_HUMAN	K	187	.	ENSP00000356853:T187K	T	+	2	0	UCK2	164139103	0.966000	0.33281	0.009000	0.14445	0.864000	0.49448	2.291000	0.43540	0.652000	0.30806	0.655000	0.94253	ACG		0.383	UCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096753.1	NM_012474		3	120	1	0	1	1	1	3	120					A	165872479	C	A	165872479	3	1	104	1	0	0	0	0	1	0	0	0	16921	536	19	5	578	5	UCK2	1	165872479	Missense_Mutation	SNP	C	TCGA-EJ-7794-01A-11D-2114-08	68308424	165872479	83378142	2	5700											
KCNH7	90134	broad.mit.edu	37	chr2	163253255	163253255	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acagttaacatatacctttgCgctctcatgccttaggttga	10	14	7	10	1	1	1	1	1	1	0	2	1	1	1	2	1	4	3	2	1	4	6			TCGA-EJ-7794-01A-11D-2114-08	TCGA-EJ-7794-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72ce9985-5383-41a0-a73d-5284713c9bba	beb230fc-309d-4188-850b-011d77acbf13	g.chr2:163253255C>T	ENST00000332142.5	-	11	2707	c.2608G>A	c.(2608-2610)Gca>Aca	p.A870T		NM_033272.3	NP_150375.2	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 7	870					circadian rhythm (GO:0007623)|potassium ion transmembrane transport (GO:0071805)|protein heterooligomerization (GO:0051291)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	inward rectifier potassium channel activity (GO:0005242)|signal transducer activity (GO:0004871)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Doxazosin(DB00590)|Ibutilide(DB00308)|Miconazole(DB01110)|Prazosin(DB00457)|Terazosin(DB01162)	TATACCTTTGCGCTCTCATGC	0.338																																					GBM(196;1492 2208 17507 24132 45496)	ENST00000332142.5																			0				NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108						c.(2608-2610)Gca>Aca		potassium voltage-gated channel, subfamily H (eag-related), member 7	Ibutilide(DB00308)						60	58	59					2																	163253255		2202	4298	6500	SO:0001583	missense	90134				regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity	g.chr2:163253255C>T	AF032897	CCDS2219.1, CCDS2220.1	2q24.3	2012-07-05			ENSG00000184611	ENSG00000184611		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	18863	protein-coding gene	gene with protein product		608169				16382104	Standard	NM_173162		Approved	Kv11.3, HERG3, erg3	uc002uch.2	Q9NS40	OTTHUMG00000132069	ENST00000332142.5:c.2608G>A	2.37:g.163253255C>T	ENSP00000331727:p.Ala870Thr						p.A870T	NM_033272.3	NP_150375.2	Q9NS40	KCNH7_HUMAN			11	2707	-			870					Q53QU4|Q53TB7|Q53TP9|Q8IV15	Missense_Mutation	SNP	ENST00000332142.5	37	c.2608G>A	CCDS2219.1	.	.	.	.	.	.	.	.	.	.	C	11.19	1.564419	0.27915	.	.	ENSG00000184611	ENST00000332142	D	0.98585	-5.01	5.43	4.5	0.54988	.	0.255147	0.38217	N	0.001763	D	0.91878	0.7429	N	0.08118	0	0.80722	D	1	B	0.06786	0.001	B	0.06405	0.002	D	0.86334	0.1700	10	0.15066	T	0.55	.	5.5586	0.17131	0.1283:0.5686:0.2271:0.076	.	870	Q9NS40	KCNH7_HUMAN	T	870	ENSP00000331727:A870T	ENSP00000331727:A870T	A	-	1	0	KCNH7	162961501	0.001000	0.12720	1.000000	0.80357	0.946000	0.59487	-0.035000	0.12205	2.561000	0.86390	0.585000	0.79938	GCA		0.338	KCNH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255093.1	NM_033272		4	33	0	0	0	1	0	4	33					T	163253255	C	T	163253255	3	4	104	1	0	0	0	0	1	0	0	0	8037	768	27	1	1006	1	KCNH7	2	163253255	Missense_Mutation	SNP	C	TCGA-EJ-7794-01A-11D-2114-08		163253255	79946118	3	5701											
SCN2A	6326	broad.mit.edu	37	chr2	166229841	166229841	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gccactgagagctttgtcccGgtttgaaggaatgagggtaa	10	10	14	7	1	0	3	0	3	0	1	1	5	1	4	2	3	1	3	2	3	3	3	rs121917753		TCGA-EJ-7794-01A-11D-2114-08	TCGA-EJ-7794-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72ce9985-5383-41a0-a73d-5284713c9bba	a72932e7-2901-4401-8f43-07c9a529e422	g.chr2:166229841G>A	ENST00000375437.2	+	21	4246	c.3956G>A	c.(3955-3957)cGg>cAg	p.R1319Q	SCN2A_ENST00000283256.6_Missense_Mutation_p.R1319Q|SCN2A_ENST00000357398.3_Missense_Mutation_p.R1319Q|SCN2A_ENST00000375427.2_Missense_Mutation_p.R1319Q	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	1319			R -> Q (in BFIS3). {ECO:0000269|PubMed:15048894}.		intrinsic apoptotic signaling pathway in response to osmotic stress (GO:0008627)|membrane depolarization during action potential (GO:0086010)|myelination (GO:0042552)|neuron apoptotic process (GO:0051402)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon (GO:0030424)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intrinsic component of plasma membrane (GO:0031226)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|sodium channel complex (GO:0034706)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)|Propofol(DB00818)|Valproic Acid(DB00313)|Zonisamide(DB00909)	GCTTTGTCCCGGTTTGAAGGA	0.433																																						ENST00000375437.2																			0				NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118	GRCh37	CM040797	SCN2A	M	rs121917753	c.(3955-3957)cGg>cAg		sodium channel, voltage-gated, type II, alpha subunit	Lamotrigine(DB00555)						136	133	134					2																	166229841		2203	4300	6503	SO:0001583	missense	6326				myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:166229841G>A	AB208888	CCDS33313.1, CCDS33314.1	2q24.3	2012-02-26	2007-01-23	2007-01-23	ENSG00000136531	ENSG00000136531		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10588	protein-coding gene	gene with protein product		182390	"sodium channel, voltage-gated, type II, alpha 2 polypeptide", "sodium channel, voltage-gated, type II, alpha 1 polypeptide"	SCN2A1, SCN2A2		1317301, 16382098	Standard	XM_005246753		Approved	Nav1.2, HBSCII, HBSCI	uc002ude.3	Q99250	OTTHUMG00000044172	ENST00000375437.2:c.3956G>A	2.37:g.166229841G>A	ENSP00000364586:p.Arg1319Gln					SCN2A_ENST00000357398.3_Missense_Mutation_p.R1319Q|SCN2A_ENST00000375427.2_Missense_Mutation_p.R1319Q|SCN2A_ENST00000283256.6_Missense_Mutation_p.R1319Q	p.R1319Q	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN			21	4246	+			1319		R -> Q (in BFIC3).			A6NC14|A6NIQ5|Q14472|Q53T77|Q9BZC9|Q9BZD0	Missense_Mutation	SNP	ENST00000375437.2	37	c.3956G>A	CCDS33314.1	.	.	.	.	.	.	.	.	.	.	G	36	5.675301	0.96764	.	.	ENSG00000136531	ENST00000375437;ENST00000357398;ENST00000283256;ENST00000375427	D;D;D;D	0.98747	-5.11;-5.11;-5.11;-5.11	5.87	5.87	0.94306	Ion transport (1);	0.000000	0.64402	D	0.000007	D	0.99074	0.9682	M	0.72576	2.205	0.58432	A	0.999999	D;D	0.76494	0.999;0.999	D;D	0.87578	0.915;0.998	D	0.99860	1.1082	9	0.87932	D	0	.	20.5827	0.99408	0.0:0.0:1.0:0.0	.	1319;1319	Q99250-2;Q99250	.;SCN2A_HUMAN	Q	1319	ENSP00000364586:R1319Q;ENSP00000349973:R1319Q;ENSP00000283256:R1319Q;ENSP00000364576:R1319Q	ENSP00000283256:R1319Q	R	+	2	0	SCN2A	165938087	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.813000	0.99286	2.941000	0.99782	0.655000	0.94253	CGG		0.433	SCN2A-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000102659.2	NM_021007		11	52	0	0	0	1	0	11	52					A	166229841	G	A	166229841	3	1	104	1	0	0	0	0	1	0	0	0	13916	1116	39	2	4130	2	SCN2A	2	166229841	Missense_Mutation	SNP	G	TCGA-EJ-7794-01A-11D-2114-08	2976586	166229841	76969532	4	5702											
TTN	7273	broad.mit.edu	37	chr2	179637910	179637910	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttccttcatcatctttcatcAtatttagaactgtcaattta	11	19	2	9	0	6	1	5	0	1	1	7	1	7	1	1	0	1	0	1	0	5	8			TCGA-EJ-7794-01A-11D-2114-08	TCGA-EJ-7794-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72ce9985-5383-41a0-a73d-5284713c9bba	a72932e7-2901-4401-8f43-07c9a529e422	g.chr2:179637910A>G	ENST00000591111.1	-	33	8005	c.7781T>C	c.(7780-7782)aTg>aCg	p.M2594T	TTN_ENST00000589042.1_Missense_Mutation_p.M2594T|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000610005.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.M2594T|TTN_ENST00000342175.6_Missense_Mutation_p.M2548T|TTN_ENST00000360870.5_Missense_Mutation_p.M2594T|TTN_ENST00000359218.5_Missense_Mutation_p.M2548T|TTN_ENST00000460472.2_Missense_Mutation_p.M2548T|TTN-AS1_ENST00000584485.1_RNA			Q8WZ42	TITIN_HUMAN	titin	12917					adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATCTTTCATCATATTTAGAAC	0.313																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(7780-7782)aTg>aCg		titin							51	53	52					2																	179637910		2203	4298	6501	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179637910A>G	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.7781T>C	2.37:g.179637910A>G	ENSP00000465570:p.Met2594Thr					TTN_ENST00000342175.6_Missense_Mutation_p.M2548T|TTN_ENST00000591111.1_Missense_Mutation_p.M2594T|TTN-AS1_ENST00000584485.1_RNA|TTN_ENST00000360870.5_Missense_Mutation_p.M2594T|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.M2548T|TTN_ENST00000359218.5_Missense_Mutation_p.M2548T|TTN_ENST00000342992.6_Missense_Mutation_p.M2594T	p.M2594T	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		33	8005	-			2328					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.7781T>C		.	.	.	.	.	.	.	.	.	.	A	12.83	2.056009	0.36277	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127;ENST00000360870	T;T;T;T;T	0.66460	-0.21;-0.21;-0.21;-0.21;-0.21	5.59	5.59	0.84812	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.45736	0.1357	N	0.03999	-0.3	0.27366	N	0.955838	B;B;B;B;B	0.33637	0.028;0.028;0.028;0.01;0.42	B;B;B;B;B	0.25506	0.021;0.021;0.038;0.017;0.061	T	0.50600	-0.8809	9	0.87932	D	0	.	15.7741	0.78198	1.0:0.0:0.0:0.0	.	2548;2548;2548;2594;2594	D3DPF9;E7EQE6;E7ET18;Q8WZ42;Q8WZ42-6	.;.;.;TITIN_HUMAN;.	T	2594;2548;2548;2548;2548;2594	ENSP00000343764:M2594T;ENSP00000434586:M2548T;ENSP00000340554:M2548T;ENSP00000352154:M2548T;ENSP00000354117:M2594T	ENSP00000340554:M2548T	M	-	2	0	TTN	179346155	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	5.765000	0.68834	2.134000	0.65973	0.528000	0.53228	ATG		0.313	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		5	54	0	0	0	1	0	5	54					G	179637910	A	G	179637910	3	3	104	1	0	0	0	0	1	0	0	0	16732	217	8	4	103527	4	TTN	2	179637910	Missense_Mutation	SNP	A	TCGA-EJ-7794-01A-11D-2114-08	13408069	179637910	63561463	5	5703											
ZBTB47	92999	broad.mit.edu	37	chr3	42700747	42700749	+	In_Frame_Del	DEL	GGA	GGA	-																															gaaggtggtggcagtggacgGgaggaggaggaggaggaaga																								rs558162168		TCGA-EJ-7794-01A-11D-2114-08	TCGA-EJ-7794-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72ce9985-5383-41a0-a73d-5284713c9bba	a72932e7-2901-4401-8f43-07c9a529e422	g.chr3:42700747_42700749delGGA	ENST00000232974.6	+	2	1181_1183	c.900_902delGGA	c.(898-903)cgggag>cgg	p.E307del	ZBTB47_ENST00000457842.3_5'UTR|ZBTB47_ENST00000505904.1_Intron			Q9UFB7	ZBT47_HUMAN	zinc finger and BTB domain containing 47	307	Glu-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			autonomic_ganglia(1)|breast(2)|endometrium(4)|large_intestine(2)|lung(3)|ovary(1)	13				KIRC - Kidney renal clear cell carcinoma(284;0.216)		gcagtggacgggaggaggaggag	0.626																																						ENST00000232974.6																			0				autonomic_ganglia(1)|breast(2)|endometrium(4)|large_intestine(2)|lung(3)|ovary(1)	13						c.(898-903)cgg>cg		zinc finger and BTB domain containing 47				143,3833		3,137,1848						1.8	1			11	293,7279		9,275,3502	no	coding	ZBTB47	NM_145166.3		12,412,5350	A1A1,A1R,RR		3.8695,3.5966,3.7755				436,11112				SO:0001651	inframe_deletion	92999				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr3:42700747_42700749delGGA	AB033016	CCDS46805.1, CCDS46805.2	3p22.1	2013-01-08	2006-09-19	2006-09-19	ENSG00000114853	ENSG00000114853		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	26955	protein-coding gene	gene with protein product			"zinc finger protein 651"	ZNF651		10574461	Standard	NM_145166		Approved	KIAA1190, DKFZp434N0615	uc003clu.2	Q9UFB7	OTTHUMG00000156207	ENST00000232974.6:c.900_902delGGA	3.37:g.42700756_42700758delGGA	ENSP00000232974:p.Glu307del					ZBTB47_ENST00000505904.1_Intron|ZBTB47_ENST00000457842.3_5'UTR	p.RE300del			Q9UFB7	ZBT47_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.216)	2	1181_1183	+			26					H7BXD3|Q6ZSY6|Q8WTY8|Q9ULN0	In_Frame_Del	DEL	ENST00000232974.6	37	c.900_902delGGA	CCDS46805.2																																																																																				0.626	ZBTB47-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343485.3	NM_145166		2	4						2	4	---	---	---	---	-	42700749	GGA	-	42700747	7	5	104	1	0	1	0	1	0	0	0	0	17545	1219	43	0	902	0	ZBTB47	3	42700747	In_Frame_Del	DEL	GGA	TCGA-EJ-7794-01A-11D-2114-08		42700747	155321683	6	5704											
MAEA	10296	broad.mit.edu	37	chr4	1316275	1316275	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtgccatgacaacaagtcccGgctccggaagatgaaggtgc	11	6	13	11	2	0	3	0	2	0	1	2	4	2	4	3	3	3	1	3	3	4	0			TCGA-EJ-7794-01A-11D-2114-08	TCGA-EJ-7794-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72ce9985-5383-41a0-a73d-5284713c9bba	a72932e7-2901-4401-8f43-07c9a529e422	g.chr4:1316275G>A	ENST00000303400.4	+	4	626	c.563G>A	c.(562-564)cGg>cAg	p.R188Q	MAEA_ENST00000505177.2_Missense_Mutation_p.R188Q|MAEA_ENST00000514708.1_Intron|MAEA_ENST00000505839.1_Missense_Mutation_p.R140Q|MAEA_ENST00000510794.1_Missense_Mutation_p.R187Q|MAEA_ENST00000452175.2_Missense_Mutation_p.R109Q|MAEA_ENST00000264750.6_Intron	NM_001017405.1	NP_001017405.1	Q7L5Y9	MAEA_HUMAN	macrophage erythroblast attacher	188	CTLH. {ECO:0000255|PROSITE- ProRule:PRU00058}.				cell adhesion (GO:0007155)|cell cycle (GO:0007049)|cell division (GO:0051301)|cytoskeleton organization (GO:0007010)|enucleate erythrocyte development (GO:0048822)|erythrocyte maturation (GO:0043249)|negative regulation of myeloid cell apoptotic process (GO:0033033)|regulation of mitotic cell cycle (GO:0007346)	actomyosin contractile ring (GO:0005826)|cytoskeleton (GO:0005856)|integral component of plasma membrane (GO:0005887)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)|spindle (GO:0005819)	actin binding (GO:0003779)			NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(2)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(23;0.0201)		WF10(DB05389)	AACAAGTCCCGGCTCCGGAAG	0.652																																						ENST00000303400.4																			0				NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(2)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	18						c.(562-564)cGg>cAg		macrophage erythroblast attacher							58	58	58					4																	1316275		2203	4300	6503	SO:0001583	missense	10296				cell adhesion|cell cycle|cell division|erythrocyte maturation|negative regulation of myeloid cell apoptosis|regulation of mitotic cell cycle	actomyosin contractile ring|integral to plasma membrane|membrane fraction|nuclear matrix|spindle	actin binding	g.chr4:1316275G>A	AF084928	CCDS33936.1, CCDS33937.1, CCDS75090.1	4p16.3	2012-07-20			ENSG00000090316	ENSG00000090316			13731	protein-coding gene	gene with protein product	"GID complex subunit 9, FYV10 homolog (S. cerevisiae)"	606801				9763581	Standard	XM_005272243		Approved	EMP, GID9	uc003gda.3	Q7L5Y9	OTTHUMG00000160169	ENST00000303400.4:c.563G>A	4.37:g.1316275G>A	ENSP00000302830:p.Arg188Gln					MAEA_ENST00000505839.1_Missense_Mutation_p.R140Q|MAEA_ENST00000505177.2_Missense_Mutation_p.R188Q|MAEA_ENST00000264750.6_Intron|MAEA_ENST00000514708.1_Intron|MAEA_ENST00000510794.1_Missense_Mutation_p.R187Q|MAEA_ENST00000452175.2_Missense_Mutation_p.R109Q	p.R188Q	NM_001017405.1	NP_001017405.1	Q7L5Y9	MAEA_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.0201)		4	626	+			188			CTLH.		O95285|Q5JB54|Q6ZRD6|Q9BQ11|Q9H9V6|Q9H9Z4|Q9NW84	Missense_Mutation	SNP	ENST00000303400.4	37	c.563G>A	CCDS33936.1	.	.	.	.	.	.	.	.	.	.	G	37	6.363749	0.97507	.	.	ENSG00000090316	ENST00000303400;ENST00000505177;ENST00000503653;ENST00000539495;ENST00000502558;ENST00000452175;ENST00000510794;ENST00000505839	T;T;T;T;T;T	0.50001	0.9;0.83;0.76;0.91;0.93;0.9	5.94	5.94	0.96194	CTLH, C-terminal LisH motif (2);	0.000000	0.85682	D	0.000000	T	0.62636	0.2444	L	0.49571	1.57	0.80722	D	1	D;D;P	0.76494	0.999;0.991;0.91	D;D;P	0.65573	0.909;0.936;0.641	T	0.51164	-0.8740	10	0.19590	T	0.45	-39.8738	20.3544	0.98835	0.0:0.0:1.0:0.0	.	187;188;188	B4DVN3;E7ESC7;Q7L5Y9	.;.;MAEA_HUMAN	Q	188;188;188;167;120;109;187;140	ENSP00000302830:R188Q;ENSP00000422215:R188Q;ENSP00000421644:R188Q;ENSP00000426903:R120Q;ENSP00000411415:R109Q;ENSP00000426807:R187Q	ENSP00000302830:R188Q	R	+	2	0	MAEA	1306275	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.298000	0.96132	2.817000	0.96982	0.655000	0.94253	CGG		0.652	MAEA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359511.1	NM_005882		3	80	0	0	0	1	0	3	80					A	1316275	G	A	1316275	3	1	104	1	0	0	0	0	1	0	0	0	9153	1116	39	2	577	2	MAEA	4	1316275	Missense_Mutation	SNP	G	TCGA-EJ-7794-01A-11D-2114-08		1316275	189838001	7	5705											
MAN2A1	4124	broad.mit.edu	37	chr5	109124684	109124684	+	Frame_Shift_Del	DEL	T	T	-																															agataattggaaattctgcaTttcttcttattttgaaggac																										TCGA-EJ-7794-01A-11D-2114-08	TCGA-EJ-7794-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72ce9985-5383-41a0-a73d-5284713c9bba	a72932e7-2901-4401-8f43-07c9a529e422	g.chr5:109124684delT	ENST00000261483.4	+	11	2862	c.1810delT	c.(1810-1812)tttfs	p.F604fs		NM_002372.2	NP_002363.2	Q16706	MA2A1_HUMAN	mannosidase, alpha, class 2A, member 1	604					cellular protein metabolic process (GO:0044267)|in utero embryonic development (GO:0001701)|liver development (GO:0001889)|lung alveolus development (GO:0048286)|mannose metabolic process (GO:0006013)|mitochondrion organization (GO:0007005)|N-glycan processing (GO:0006491)|positive regulation of neurogenesis (GO:0050769)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|respiratory gaseous exchange (GO:0007585)|retina morphogenesis in camera-type eye (GO:0060042)|vacuole organization (GO:0007033)	cis-Golgi network (GO:0005801)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)|hydrolase activity, hydrolyzing N-glycosyl compounds (GO:0016799)|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity (GO:0004572)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|endometrium(7)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_cancers(142;8.66e-07)|all_epithelial(76;7.73e-09)|Prostate(80;0.000303)|Lung NSC(167;0.0186)|all_lung(232;0.0241)|Ovarian(225;0.0444)|Colorectal(57;0.0959)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;2.17e-10)|Epithelial(69;1.37e-09)|COAD - Colon adenocarcinoma(37;0.141)		AAATTCTGCATTTCTTCTTAT	0.303																																						ENST00000261483.4																			0				breast(2)|central_nervous_system(2)|endometrium(7)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	55						c.(1810-1812)ttfs		mannosidase, alpha, class 2A, member 1							112	115	114					5																	109124684		2202	4297	6499	SO:0001589	frameshift_variant	4124				mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding	g.chr5:109124684delT		CCDS34209.1	5q21.3	2013-09-20			ENSG00000112893	ENSG00000112893	3.2.1.114		6824	protein-coding gene	gene with protein product	"golgi integral membrane protein 7"	154582		MANA2		1757461, 15004235	Standard	NM_002372		Approved	GOLIM7	uc003kou.1	Q16706	OTTHUMG00000162834	ENST00000261483.4:c.1810delT	5.37:g.109124684delT	ENSP00000261483:p.Phe604fs						p.F604fs	NM_002372.2	NP_002363.2	Q16706	MA2A1_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;2.17e-10)|Epithelial(69;1.37e-09)|COAD - Colon adenocarcinoma(37;0.141)	11	2862	+		all_cancers(142;8.66e-07)|all_epithelial(76;7.73e-09)|Prostate(80;0.000303)|Lung NSC(167;0.0186)|all_lung(232;0.0241)|Ovarian(225;0.0444)|Colorectal(57;0.0959)|Breast(839;0.244)	604					Q16767	Frame_Shift_Del	DEL	ENST00000261483.4	37	c.1810delT	CCDS34209.1																																																																																				0.303	MAN2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370680.1			15	59						15	59	---	---	---	---	-	109124684	T	-	109124684	7	5	104	1	0	1	0	1	0	0	0	0	9214	1493	52	0	1852	0	MAN2A1	5	109124684	Frame_Shift_Del	DEL	T	TCGA-EJ-7794-01A-11D-2114-08		109124684	71790576	8	5706											
MAN1A1	4121	broad.mit.edu	37	chr6	119611907	119611907	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aacaaagcgtatatttacttCaaagacagaaatttcagcat	18	11	5	7	1	2	2	2	0	0	2	2	2	2	2	0	0	4	2	0	0	7	6			TCGA-EJ-7794-01A-11D-2114-08	TCGA-EJ-7794-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72ce9985-5383-41a0-a73d-5284713c9bba	a72932e7-2901-4401-8f43-07c9a529e422	g.chr6:119611907C>T	ENST00000368468.3	-	5	1279	c.838G>A	c.(838-840)Gaa>Aaa	p.E280K	MAN1A1_ENST00000368466.2_Missense_Mutation_p.E303K	NM_005907.3	NP_005898.2	P33908	MA1A1_HUMAN	mannosidase, alpha, class 1A, member 1	280					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|mannosidase activity (GO:0015923)|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity (GO:0004571)			central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(2)|skin(3)	24		all_epithelial(87;0.173)		OV - Ovarian serous cystadenocarcinoma(136;0.0612)|GBM - Glioblastoma multiforme(226;0.0702)|all cancers(137;0.115)		ATATTTACTTCAAAGACAGAA	0.299																																					Ovarian(136;8 1825 12608 33541 47587)	ENST00000368468.3																			0				central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(2)|skin(3)	24						c.(838-840)Gaa>Aaa		mannosidase, alpha, class 1A, member 1							73	76	75					6																	119611907		2203	4295	6498	SO:0001583	missense	4121				post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum|ER-Golgi intermediate compartment|Golgi membrane|integral to membrane|membrane fraction	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity	g.chr6:119611907C>T	AK025599	CCDS5122.1	6q22	2008-08-29			ENSG00000111885	ENSG00000111885	3.2.1.113		6821	protein-coding gene	gene with protein product		604344				8223597	Standard	NM_005907		Approved		uc003pym.2	P33908	OTTHUMG00000015472	ENST00000368468.3:c.838G>A	6.37:g.119611907C>T	ENSP00000357453:p.Glu280Lys					MAN1A1_ENST00000368466.2_Missense_Mutation_p.E303K	p.E280K	NM_005907.3	NP_005898.2	P33908	MA1A1_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.0612)|GBM - Glioblastoma multiforme(226;0.0702)|all cancers(137;0.115)	5	1279	-		all_epithelial(87;0.173)	280					E7EU32|Q6P052|Q9NU44|Q9UJI3	Missense_Mutation	SNP	ENST00000368468.3	37	c.838G>A	CCDS5122.1	.	.	.	.	.	.	.	.	.	.	C	34	5.351964	0.95830	.	.	ENSG00000111885	ENST00000368468;ENST00000368466	D;D	0.85171	-1.95;-1.95	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	D	0.96178	0.8754	H	0.99117	4.435	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.97279	0.9916	9	.	.	.	-33.3309	19.3531	0.94398	0.0:1.0:0.0:0.0	.	303;280	Q6P052;P33908	.;MA1A1_HUMAN	K	280;303	ENSP00000357453:E280K;ENSP00000357451:E303K	.	E	-	1	0	MAN1A1	119653606	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.243000	0.72384	2.941000	0.99782	0.655000	0.94253	GAA		0.299	MAN1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042015.1	NM_005907		9	68	0	0	0	1	0	9	68					T	119611907	C	T	119611907	3	4	104	1	0	0	0	0	1	0	0	0	9210	835	29	3	1159	3	MAN1A1	6	119611907	Missense_Mutation	SNP	C	TCGA-EJ-7794-01A-11D-2114-08		119611907	51503160	9	5707											
LAMA2	3908	broad.mit.edu	37	chr6	129762070	129762072	+	In_Frame_Del	DEL	GAA	GAA	-																															caccagaacctcgatggcctGaagaagaattacaataaact																										TCGA-EJ-7794-01A-11D-2114-08	TCGA-EJ-7794-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72ce9985-5383-41a0-a73d-5284713c9bba	a72932e7-2901-4401-8f43-07c9a529e422	g.chr6:129762070_129762072delGAA	ENST00000421865.2	+	43	6244_6246	c.6195_6197delGAA	c.(6193-6198)ctgaag>ctg	p.K2067del		NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	2067	Domain II and I.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|myelination in peripheral nervous system (GO:0022011)|positive regulation of synaptic transmission, cholinergic (GO:0032224)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|sarcolemma (GO:0042383)	structural molecule activity (GO:0005198)			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		TCGATGGCCTGAAGAAGAATTAC	0.438																																						ENST00000421865.2																			0				NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194						c.(6193-6198)ctg>ct		laminin, alpha 2																																				SO:0001651	inframe_deletion	3908				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	g.chr6:129762070_129762072delGAA	Z26653	CCDS5138.1	6q22-q23	2014-09-17	2008-08-01		ENSG00000196569	ENSG00000196569		"Laminins"	6482	protein-coding gene	gene with protein product	"merosin", "congenital muscular dystrophy"	156225		LAMM		2185464, 8294519	Standard	NM_000426		Approved		uc003qbn.3	P24043	OTTHUMG00000015545	ENST00000421865.2:c.6195_6197delGAA	6.37:g.129762076_129762078delGAA	ENSP00000400365:p.Lys2067del						p.LK2065del	NM_000426.3|NM_001079823.1	NP_000417.2|NP_001073291.1	P24043	LAMA2_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)	43	6244_6246	+			2065			Domain II and I.		Q14736|Q5VUM2|Q93022	In_Frame_Del	DEL	ENST00000421865.2	37	c.6195_6197delGAA	CCDS5138.1																																																																																				0.438	LAMA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042180.1			7	38						7	38	---	---	---	---	-	129762072	GAA	-	129762070	7	5	104	1	0	1	0	1	0	0	0	0	8606	1277	45	0	6365	0	LAMA2	6	129762070	In_Frame_Del	DEL	GAA	TCGA-EJ-7794-01A-11D-2114-08	10150163	129762070	41352997	10	5708											
MEPCE	56257	broad.mit.edu	37	chr7	100028454	100028454	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caccggggacagcaccaccaGcagcagcaggcagccggagg	11	0	15	15	2	0	0	0	0	0	0	0	2	0	2	4	5	5	5	4	5	0	0			TCGA-EJ-7794-01A-11D-2114-08	TCGA-EJ-7794-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72ce9985-5383-41a0-a73d-5284713c9bba	a72932e7-2901-4401-8f43-07c9a529e422	g.chr7:100028454G>C	ENST00000310512.2	+	1	1201	c.813G>C	c.(811-813)caG>caC	p.Q271H	MEPCE_ENST00000414441.1_5'UTR|ZCWPW1_ENST00000324725.6_5'Flank|ZCWPW1_ENST00000360951.4_5'Flank|ZCWPW1_ENST00000398027.2_5'Flank	NM_019606.5	NP_062552.2	Q7L2J0	MEPCE_HUMAN	methylphosphate capping enzyme	271					negative regulation of chromatin binding (GO:0035562)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|RNA methylation (GO:0001510)|snRNA metabolic process (GO:0016073)|snRNA modification (GO:0040031)		poly(A) RNA binding (GO:0044822)|RNA methyltransferase activity (GO:0008173)|S-adenosylmethionine-dependent methyltransferase activity (GO:0008757)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(2)|lung(9)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					AGCACCACCAGCAGCAGCAGG	0.647																																						ENST00000310512.2																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(2)|lung(9)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24						c.(811-813)caG>caC		methylphosphate capping enzyme							99	109	105					7																	100028454		2203	4300	6503	SO:0001583	missense	56257						methyltransferase activity	g.chr7:100028454G>C	AF264752	CCDS5693.1, CCDS55136.1	7q22.1	2008-02-04	2007-07-26	2007-07-26	ENSG00000146834	ENSG00000146834			20247	protein-coding gene	gene with protein product		611478	"bin3, bicoid-interacting 3, homolog (Drosophila)"	BCDIN3		12358911, 17643375	Standard	NM_019606		Approved	FLJ20257, MePCE	uc003uuw.3	Q7L2J0	OTTHUMG00000155255	ENST00000310512.2:c.813G>C	7.37:g.100028454G>C	ENSP00000308546:p.Gln271His					MEPCE_ENST00000414441.1_5'UTR	p.Q271H	NM_019606.5	NP_062552.2	Q7L2J0	MEPCE_HUMAN			1	1201	+	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		271					B3KP86|D6W5V7|Q9NPD4	Missense_Mutation	SNP	ENST00000310512.2	37	c.813G>C	CCDS5693.1	.	.	.	.	.	.	.	.	.	.	G	15.46	2.840902	0.51057	.	.	ENSG00000146834	ENST00000310512	.	.	.	4.62	2.81	0.32909	.	0.175162	0.36703	N	0.002459	T	0.22820	0.0551	N	0.22421	0.69	0.30375	N	0.782541	B	0.21225	0.053	B	0.14023	0.01	T	0.11470	-1.0586	9	0.24483	T	0.36	-0.6486	4.5225	0.11966	0.2002:0.1847:0.6151:0.0	.	271	Q7L2J0	MEPCE_HUMAN	H	271	.	ENSP00000308546:Q271H	Q	+	3	2	MEPCE	99866390	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	2.904000	0.48719	0.565000	0.29255	0.462000	0.41574	CAG		0.647	MEPCE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339135.1			4	221	0	0	0	1	0	4	221					C	100028454	G	C	100028454	3	2	104	1	0	0	0	0	1	0	0	0	9477	962	34	5	815	5	MEPCE	7	100028454	Missense_Mutation	SNP	G	TCGA-EJ-7794-01A-11D-2114-08		100028454	59110209	11	5709											
PTPRZ1	5803	broad.mit.edu	37	chr7	121651647	121651647	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccacaagttacttcagctacCgagagtgataaggtgccctt	11	10	9	11	1	1	2	1	1	0	1	1	3	1	2	3	1	4	2	3	1	4	5	rs147331896		TCGA-EJ-7794-01A-11D-2114-08	TCGA-EJ-7794-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72ce9985-5383-41a0-a73d-5284713c9bba	a72932e7-2901-4401-8f43-07c9a529e422	g.chr7:121651647C>T	ENST00000393386.2	+	12	2958	c.2547C>T	c.(2545-2547)acC>acT	p.T849T	PTPRZ1_ENST00000483028.1_Intron|PTPRZ1_ENST00000449182.1_Intron	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	849					axonogenesis (GO:0007409)|central nervous system development (GO:0007417)|hematopoietic progenitor cell differentiation (GO:0002244)|learning or memory (GO:0007611)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of oligodendrocyte progenitor proliferation (GO:0070445)	integral component of plasma membrane (GO:0005887)|perineuronal net (GO:0072534)|proteinaceous extracellular matrix (GO:0005578)	protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						CTTCAGCTACCGAGAGTGATA	0.478																																						ENST00000393386.2																			0				NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						c.(2545-2547)acC>acT		protein tyrosine phosphatase, receptor-type, Z polypeptide 1		C	,,	1,4405	2.1+/-5.4	0,1,2202	139	128	132		,,2547	2	0.6	7	dbSNP_134	132	0,8600		0,0,4300	no	intron,intron,coding-synonymous	PTPRZ1	NM_001206838.1,NM_001206839.1,NM_002851.2	,,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,,	,,849/2316	121651647	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	5803				central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity	g.chr7:121651647C>T	M93426	CCDS34740.1, CCDS56505.1	7q31.3	2013-02-11			ENSG00000106278	ENSG00000106278		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Fibronectin type III domain containing"	9685	protein-coding gene	gene with protein product		176891		PTPZ, PTPRZ		7736789, 8387522	Standard	NM_001206838		Approved	PTP18, RPTPB, phosphacan	uc003vjy.3	P23471	OTTHUMG00000157057	ENST00000393386.2:c.2547C>T	7.37:g.121651647C>T						PTPRZ1_ENST00000449182.1_Intron|PTPRZ1_ENST00000483028.1_Intron	p.T849T	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN			12	2958	+			849					A4D0W5|C9JFM0|O76043|Q9UDR6	Silent	SNP	ENST00000393386.2	37	c.2547C>T	CCDS34740.1																																																																																				0.478	PTPRZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347288.1	NM_002851		16	109	0	0	0	1	0	16	109					T	121651647	C	T	121651647	2	4	104	1	0	0	0	0	0	0	0	1	12814	639	23	2		2	PTPRZ1	7	121651647	Silent	SNP	C	TCGA-EJ-7794-01A-11D-2114-08	21623193	121651647	37487016	12	5710											
TRIM24	8805	broad.mit.edu	37	chr7	138145410	138145410	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gccgagagtcggcagggcccGgactcggagcgcggcggcga	6	2	20	13	8	0	1	0	0	0	1	2	5	0	3	2	6	1	1	2	6	0	0			TCGA-EJ-7794-01A-11D-2114-08	TCGA-EJ-7794-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72ce9985-5383-41a0-a73d-5284713c9bba	a72932e7-2901-4401-8f43-07c9a529e422	g.chr7:138145410G>A	ENST00000343526.4	+	1	332	c.117G>A	c.(115-117)ccG>ccA	p.P39P	TRIM24_ENST00000415680.2_Silent_p.P39P			O15164	TIF1A_HUMAN	tripartite motif containing 24	39					calcium ion homeostasis (GO:0055074)|cellular response to estrogen stimulus (GO:0071391)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autophosphorylation (GO:0046777)|protein catabolic process (GO:0030163)|protein ubiquitination (GO:0016567)|regulation of apoptotic process (GO:0042981)|regulation of protein stability (GO:0031647)|regulation of signal transduction by p53 class mediator (GO:1901796)|regulation of vitamin D receptor signaling pathway (GO:0070562)|response to peptide hormone (GO:0043434)|transcription from RNA polymerase II promoter (GO:0006366)	cytosol (GO:0005829)|nuclear euchromatin (GO:0005719)|nucleus (GO:0005634)|perichromatin fibrils (GO:0005726)	chromatin binding (GO:0003682)|estrogen response element binding (GO:0034056)|ligase activity (GO:0016874)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|protein kinase activity (GO:0004672)|receptor binding (GO:0005102)|sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(5)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(12)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	40						GGCAGGGCCCGGACTCGGAGC	0.766																																					Pancreas(179;936 2074 16128 47811 50326)|Colon(136;168 1735 9344 12243 52014)	ENST00000343526.4																			0				breast(2)|central_nervous_system(5)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(12)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	40						c.(115-117)ccG>ccA		tripartite motif containing 24							3	4	4					7																	138145410		1453	3300	4753	SO:0001819	synonymous_variant	8805				cellular response to estrogen stimulus|protein catabolic process|regulation of apoptosis|regulation of protein stability|transcription from RNA polymerase II promoter	cytoplasm	chromatin binding|estrogen response element binding|histone acetyl-lysine binding|p53 binding|transcription coactivator activity|ubiquitin-protein ligase activity|zinc ion binding	g.chr7:138145410G>A	AF009353	CCDS5847.1, CCDS47720.1	7q32-q34	2013-01-28	2011-01-25	2005-06-02	ENSG00000122779	ENSG00000122779		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers", "Zinc fingers, PHD-type"	11812	protein-coding gene	gene with protein product		603406	"transcriptional intermediary factor 1", "tripartite motif-containing 24"	TIF1		9115274, 9191165	Standard	NM_003852		Approved	hTIF1, Tif1a, RNF82, TIF1A	uc003vuc.3	O15164	OTTHUMG00000155820	ENST00000343526.4:c.117G>A	7.37:g.138145410G>A						TRIM24_ENST00000415680.2_Silent_p.P39P	p.P39P			O15164	TIF1A_HUMAN			1	332	+			39					A4D1R7|A4D1R8|O95854	Silent	SNP	ENST00000343526.4	37	c.117G>A	CCDS5847.1																																																																																				0.766	TRIM24-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341814.1	NM_015905		2	5	0	0	0	1	0	2	5					A	138145410	G	A	138145410	2	1	104	1	0	0	0	0	0	0	0	1	16495	1103	39	2		2	TRIM24	7	138145410	Silent	SNP	G	TCGA-EJ-7794-01A-11D-2114-08	16493763	138145410	20993253	13	5711											
TNFRSF10B	8795	broad.mit.edu	37	chr8	22880193	22880193	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gagaatcacacttaggacatGgcagagtctgcattaccttc	12	10	9	10	0	2	2	1	0	1	2	3	4	2	3	1	2	2	2	1	2	3	3			TCGA-EJ-7794-01A-11D-2114-08	TCGA-EJ-7794-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72ce9985-5383-41a0-a73d-5284713c9bba	a72932e7-2901-4401-8f43-07c9a529e422	g.chr8:22880193G>T	ENST00000276431.4	-	9	1598	c.1314C>A	c.(1312-1314)gcC>gcA	p.A438A	TNFRSF10B_ENST00000542226.1_Silent_p.A258A|TNFRSF10B_ENST00000347739.3_Silent_p.A409A	NM_003842.4|NM_147187.2	NP_003833.4|NP_671716.2	O14763	TR10B_HUMAN	tumor necrosis factor receptor superfamily, member 10b	438					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of NF-kappaB-inducing kinase activity (GO:0007250)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cell surface receptor signaling pathway (GO:0007166)|cellular response to mechanical stimulus (GO:0071260)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|regulation of apoptotic process (GO:0042981)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|response to endoplasmic reticulum stress (GO:0034976)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)|TRAIL binding (GO:0045569)			NS(1)|endometrium(2)|large_intestine(7)|liver(1)|lung(3)|skin(1)	15		Prostate(55;0.0421)|Breast(100;0.067)		Colorectal(74;0.0179)|COAD - Colon adenocarcinoma(73;0.0703)		CTTAGGACATGGCAGAGTCTG	0.478																																					GBM(94;1064 1342 1839 21060 42553)	ENST00000276431.4																			0				NS(1)|endometrium(2)|large_intestine(7)|liver(1)|lung(3)|skin(1)	15						c.(1312-1314)gcC>gcA		tumor necrosis factor receptor superfamily, member 10b							84	80	81					8																	22880193		2203	4300	6503	SO:0001819	synonymous_variant	8795				activation of NF-kappaB-inducing kinase activity|activation of pro-apoptotic gene products|cell surface receptor linked signaling pathway|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors|positive regulation of I-kappaB kinase/NF-kappaB cascade	plasma membrane	caspase activator activity|receptor activity|TRAIL binding	g.chr8:22880193G>T	AF012628	CCDS6035.1, CCDS6036.1	8p22-p21	2006-02-22			ENSG00000120889	ENSG00000120889		"Tumor necrosis factor receptor superfamily", "CD molecules"	11905	protein-coding gene	gene with protein product		603612				9285725, 9311998	Standard	NM_003842		Approved	DR5, KILLER, TRICK2A, TRAIL-R2, TRICKB, CD262	uc003xcu.2	O14763	OTTHUMG00000097826	ENST00000276431.4:c.1314C>A	8.37:g.22880193G>T						TNFRSF10B_ENST00000347739.3_Silent_p.A409A|TNFRSF10B_ENST00000542226.1_Silent_p.A258A	p.A438A	NM_003842.4|NM_147187.2	NP_003833.4|NP_671716.2	O14763	TR10B_HUMAN		Colorectal(74;0.0179)|COAD - Colon adenocarcinoma(73;0.0703)	9	1598	-		Prostate(55;0.0421)|Breast(100;0.067)	438					O14720|O15508|O15517|O15531|Q6UXM8|Q7Z360|Q9BVE0	Silent	SNP	ENST00000276431.4	37	c.1314C>A	CCDS6035.1																																																																																				0.478	TNFRSF10B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000215099.2	NM_147187		3	41	1	0	1	1	1	3	41					T	22880193	G	T	22880193	2	4	104	1	0	0	0	0	0	0	0	1	16278	1335	47	5		5	TNFRSF10B	8	22880193	Silent	SNP	G	TCGA-EJ-7794-01A-11D-2114-08		22880193	123483829	14	5712											
FIBCD1	84929	broad.mit.edu	37	chr9	133779562	133779562	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcataggaggcgtgcgcaccGcgcaggtactgcccattgag	8	6	15	12	4	0	1	0	1	0	0	0	2	0	2	2	3	3	4	2	3	2	3			TCGA-EJ-7794-01A-11D-2114-08	TCGA-EJ-7794-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72ce9985-5383-41a0-a73d-5284713c9bba	a72932e7-2901-4401-8f43-07c9a529e422	g.chr9:133779562G>A	ENST00000372338.4	-	7	1517	c.1275C>T	c.(1273-1275)cgC>cgT	p.R425R	FIBCD1_ENST00000253018.4_Intron|FIBCD1_ENST00000448616.1_Silent_p.R425R|FIBCD1_ENST00000372337.2_Silent_p.R267R	NM_032843.4	NP_116232.3	Q8N539	FBCD1_HUMAN	fibrinogen C domain containing 1	425	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.					integral component of membrane (GO:0016021)|membrane (GO:0016020)	chitin binding (GO:0008061)|metal ion binding (GO:0046872)			kidney(1)|large_intestine(3)|lung(2)|prostate(5)|urinary_tract(1)	12	all_hematologic(7;0.0028)			OV - Ovarian serous cystadenocarcinoma(145;3.52e-05)|Epithelial(140;0.00019)		CGTGCGCACCGCGCAGGTACT	0.627																																						ENST00000372338.4																			0				kidney(1)|large_intestine(3)|lung(2)|prostate(5)|urinary_tract(1)	12						c.(1273-1275)cgC>cgT		fibrinogen C domain containing 1							132	112	119					9																	133779562		2203	4300	6503	SO:0001819	synonymous_variant	84929				signal transduction	extracellular space|integral to membrane	chitin binding|metal ion binding|receptor binding	g.chr9:133779562G>A	AK027716	CCDS6937.1	9q34.2	2013-02-06			ENSG00000130720	ENSG00000130720		"Fibrinogen C domain containing"	25922	protein-coding gene	gene with protein product		613357				12975309	Standard	NM_001145106		Approved	FLJ14810	uc004bzz.3	Q8N539	OTTHUMG00000020814	ENST00000372338.4:c.1275C>T	9.37:g.133779562G>A						FIBCD1_ENST00000372337.2_Silent_p.R267R|FIBCD1_ENST00000448616.1_Silent_p.R425R|FIBCD1_ENST00000253018.4_Intron	p.R425R	NM_032843.4	NP_116232.3	Q8N539	FBCD1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;3.52e-05)|Epithelial(140;0.00019)	7	1517	-	all_hematologic(7;0.0028)		425			Fibrinogen C-terminal.		A3KFK0|Q6UXK6|Q96SJ7	Silent	SNP	ENST00000372338.4	37	c.1275C>T	CCDS6937.1																																																																																				0.627	FIBCD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054687.2	NM_032843		21	88	0	0	0	1	0	21	88					A	133779562	G	A	133779562	2	1	104	1	0	0	0	0	0	0	0	1	5884	1074	38	1		1	FIBCD1	9	133779562	Silent	SNP	G	TCGA-EJ-7794-01A-11D-2114-08		133779562	7433869	15	5713											
FAM188A	80013	broad.mit.edu	37	chr10	15879270	15879270	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttccccacattgaatactggTccaagacagcatcttttaat	12	13	5	11	0	1	2	0	1	1	1	3	2	3	2	3	1	2	1	3	1	4	5			TCGA-EJ-7794-01A-11D-2114-08	TCGA-EJ-7794-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72ce9985-5383-41a0-a73d-5284713c9bba	a72932e7-2901-4401-8f43-07c9a529e422	g.chr10:15879270T>C	ENST00000277632.3	-	6	729	c.509A>G	c.(508-510)gAc>gGc	p.D170G	FAM188A_ENST00000477891.1_5'UTR	NM_024948.2	NP_079224.1	Q9H8M7	F188A_HUMAN	family with sequence similarity 188, member A	170					apoptotic process (GO:0006915)	nucleus (GO:0005634)	calcium ion binding (GO:0005509)			breast(2)|endometrium(5)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|skin(2)	22						TGAATACTGGTCCAAGACAGC	0.333																																					Pancreas(159;946 1953 2111 4475 22008)	ENST00000277632.3																			0				breast(2)|endometrium(5)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|skin(2)	22						c.(508-510)gAc>gGc		family with sequence similarity 188, member A							161	164	163					10																	15879270		2203	4299	6502	SO:0001583	missense	80013				apoptosis	nucleus	calcium ion binding	g.chr10:15879270T>C	AK023459	CCDS7110.1	10p13	2009-07-14	2009-07-14	2009-07-14	ENSG00000148481	ENSG00000148481			23578	protein-coding gene	gene with protein product	"caspase recruitment domain containing pro-apoptotic protein", "CARD-containing protein"	611649	"chromosome 10 open reading frame 97"	C10orf97		12054670, 17652099	Standard	XM_005252600		Approved	FLJ13397, CARP, my042, DERP5	uc001iod.1	Q9H8M7	OTTHUMG00000017734	ENST00000277632.3:c.509A>G	10.37:g.15879270T>C	ENSP00000277632:p.Asp170Gly					FAM188A_ENST00000477891.1_5'UTR	p.D170G	NM_024948.2	NP_079224.1	Q9H8M7	F188A_HUMAN			6	729	-			170					Q5SZ68|Q5SZ69|Q5SZ70|Q6IA40|Q6P7P0|Q7Z2S1|Q8WUF1|Q9H3I4	Missense_Mutation	SNP	ENST00000277632.3	37	c.509A>G	CCDS7110.1	.	.	.	.	.	.	.	.	.	.	T	14.86	2.661075	0.47572	.	.	ENSG00000148481	ENST00000277632;ENST00000418767;ENST00000436829	T;T;T	0.30714	1.52;1.52;1.52	5.64	5.64	0.86602	.	0.140151	0.64402	D	0.000004	T	0.25494	0.0620	N	0.21194	0.64	0.80722	D	1	B	0.20164	0.042	B	0.29077	0.098	T	0.05305	-1.0893	10	0.28530	T	0.3	-15.6662	15.8556	0.78975	0.0:0.0:0.0:1.0	.	170	Q9H8M7	F188A_HUMAN	G	170;10;23	ENSP00000277632:D170G;ENSP00000388661:D10G;ENSP00000389883:D23G	ENSP00000277632:D170G	D	-	2	0	FAM188A	15919276	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.347000	0.65998	2.133000	0.65898	0.482000	0.46254	GAC		0.333	FAM188A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046990.2	NM_024948		3	174	0	0	0	1	0	3	174					C	15879270	T	C	15879270	3	2	104	1	0	0	0	0	1	0	0	0	5514	1667	58	4	868	4	FAM188A	10	15879270	Missense_Mutation	SNP	T	TCGA-EJ-7794-01A-11D-2114-08		15879270	119655477	16	5714											
GBF1	8729	broad.mit.edu	37	chr10	104136749	104136749	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atatgacagcaaagggaaccGcttcaagaagaaatccaaag	19	5	9	8	1	1	3	1	1	0	2	2	4	2	4	2	1	2	2	2	1	7	2			TCGA-EJ-7794-01A-11D-2114-08	TCGA-EJ-7794-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72ce9985-5383-41a0-a73d-5284713c9bba	a72932e7-2901-4401-8f43-07c9a529e422	g.chr10:104136749G>A	ENST00000369983.3	+	33	4603	c.4343G>A	c.(4342-4344)cGc>cAc	p.R1448H		NM_001199378.1|NM_001199379.1|NM_004193.2	NP_001186307.1|NP_001186308.1|NP_004184.1	Q92538	GBF1_HUMAN	golgi brefeldin A resistant guanine nucleotide exchange factor 1	1448					COPI coating of Golgi vesicle (GO:0048205)|membrane organization (GO:0061024)|positive regulation of GTPase activity (GO:0043547)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of ARF protein signal transduction (GO:0032012)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|vesicle-mediated transport (GO:0016192)|viral process (GO:0016032)	cis-Golgi network (GO:0005801)|endoplasmic reticulum lumen (GO:0005788)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisome (GO:0005777)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(14)|kidney(8)|large_intestine(15)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	71		Colorectal(252;0.0236)		Epithelial(162;5.16e-08)|all cancers(201;1.19e-06)		AAAGGGAACCGCTTCAAGAAG	0.517																																						ENST00000369983.3																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(14)|kidney(8)|large_intestine(15)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	71						c.(4342-4344)cGc>cAc		golgi brefeldin A resistant guanine nucleotide exchange factor 1							123	117	119					10																	104136749		2203	4300	6503	SO:0001583	missense	8729				COPI coating of Golgi vesicle|post-Golgi vesicle-mediated transport|regulation of ARF protein signal transduction|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane	ARF guanyl-nucleotide exchange factor activity|protein binding	g.chr10:104136749G>A	D87435	CCDS7533.1	10q24	2010-02-12	2010-02-12		ENSG00000107862	ENSG00000107862			4181	protein-coding gene	gene with protein product		603698	"golgi-specific brefeldin A resistance factor 1"			9828135	Standard	NM_004193		Approved	KIAA0248, ARF1GEF	uc001kux.2	Q92538	OTTHUMG00000018955	ENST00000369983.3:c.4343G>A	10.37:g.104136749G>A	ENSP00000359000:p.Arg1448His						p.R1448H	NM_001199378.1|NM_001199379.1|NM_004193.2	NP_001186307.1|NP_001186308.1|NP_004184.1	Q92538	GBF1_HUMAN		Epithelial(162;5.16e-08)|all cancers(201;1.19e-06)	33	4603	+		Colorectal(252;0.0236)	1448					Q5VXX3|Q96CK6|Q96HZ3|Q9H473	Missense_Mutation	SNP	ENST00000369983.3	37	c.4343G>A	CCDS7533.1	.	.	.	.	.	.	.	.	.	.	G	31	5.077938	0.94000	.	.	ENSG00000107862	ENST00000369983	T	0.11385	2.78	4.96	4.96	0.65561	.	0.000000	0.85682	D	0.000000	T	0.28267	0.0698	M	0.62723	1.935	0.58432	D	0.999999	P;D;D	0.71674	0.645;0.998;0.998	B;P;P	0.59487	0.028;0.713;0.858	T	0.00795	-1.1563	10	0.54805	T	0.06	-12.7008	18.396	0.90499	0.0:0.0:1.0:0.0	.	1448;1448;1448	Q149P1;Q149P0;Q92538	.;.;GBF1_HUMAN	H	1448	ENSP00000359000:R1448H	ENSP00000359000:R1448H	R	+	2	0	GBF1	104126739	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	9.180000	0.94867	2.564000	0.86499	0.561000	0.74099	CGC		0.517	GBF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050051.1			4	109	0	0	0	1	0	4	109					A	104136749	G	A	104136749	3	1	104	1	0	0	0	0	1	0	0	0	6271	1087	38	1	4469	1	GBF1	10	104136749	Missense_Mutation	SNP	G	TCGA-EJ-7794-01A-11D-2114-08	88257479	104136749	31397998	17	5715											
STK32C	282974	broad.mit.edu	37	chr10	134040390	134040390	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcctcggagaactgcacgtTctgctgcaggtggtagcgca	7	9	14	11	3	1	1	0	0	1	1	3	2	2	1	1	3	5	6	1	3	2	2			TCGA-EJ-7794-01A-11D-2114-08	TCGA-EJ-7794-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72ce9985-5383-41a0-a73d-5284713c9bba	a72932e7-2901-4401-8f43-07c9a529e422	g.chr10:134040390T>C	ENST00000368622.1	-	4	583	c.202A>G	c.(202-204)Aac>Gac	p.N68D	STK32C_ENST00000368625.4_Missense_Mutation_p.N198D					serine/threonine kinase 32C											breast(1)|endometrium(2)|large_intestine(2)|lung(15)|ovary(2)|skin(1)	23		all_cancers(35;2.72e-11)|all_epithelial(44;2.33e-08)|Lung NSC(174;0.000855)|all_lung(145;0.00146)|all_neural(114;0.0299)|Breast(234;0.106)|Colorectal(31;0.112)|Melanoma(40;0.124)|Glioma(114;0.203)		Epithelial(32;3.99e-05)|all cancers(32;5.58e-05)|OV - Ovarian serous cystadenocarcinoma(35;9.96e-05)|BRCA - Breast invasive adenocarcinoma(275;0.222)		AACTGCACGTTCTGCTGCAGG	0.612																																						ENST00000368622.1																			0				breast(1)|endometrium(2)|large_intestine(2)|lung(15)|ovary(2)|skin(1)	23						c.(202-204)Aac>Gac		serine/threonine kinase 32C							177	116	137					10																	134040390		2203	4300	6503	SO:0001583	missense	282974						ATP binding|metal ion binding|protein serine/threonine kinase activity	g.chr10:134040390T>C	AK057849	CCDS7666.1	10q26.3	2004-07-22			ENSG00000165752	ENSG00000165752			21332	protein-coding gene	gene with protein product							Standard	NM_173575		Approved	PKE, MGC23665, YANK3	uc001lle.1	Q86UX6	OTTHUMG00000019285	ENST00000368622.1:c.202A>G	10.37:g.134040390T>C	ENSP00000357611:p.Asn68Asp					STK32C_ENST00000368625.4_Missense_Mutation_p.N198D	p.N68D			Q86UX6	ST32C_HUMAN		Epithelial(32;3.99e-05)|all cancers(32;5.58e-05)|OV - Ovarian serous cystadenocarcinoma(35;9.96e-05)|BRCA - Breast invasive adenocarcinoma(275;0.222)	4	583	-		all_cancers(35;2.72e-11)|all_epithelial(44;2.33e-08)|Lung NSC(174;0.000855)|all_lung(145;0.00146)|all_neural(114;0.0299)|Breast(234;0.106)|Colorectal(31;0.112)|Melanoma(40;0.124)|Glioma(114;0.203)	185						Missense_Mutation	SNP	ENST00000368622.1	37	c.202A>G		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	16.72|16.72	3.202676|3.202676	0.58234|0.58234	.|.	.|.	ENSG00000165752|ENSG00000165752	ENST00000368620|ENST00000368622;ENST00000298630;ENST00000368625	.|T;T;T	.|0.65916	.|-0.18;-0.18;-0.18	4.75|4.75	4.75|4.75	0.60458|0.60458	.|Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	.|0.084903	.|0.47852	.|D	.|0.000215	T|T	0.67720|0.67720	0.2923|0.2923	L|L	0.31371|0.31371	0.925|0.925	0.42359|0.42359	D|D	0.992405|0.992405	.|D;B;B	.|0.65815	.|0.995;0.009;0.021	.|D;B;B	.|0.70487	.|0.969;0.029;0.06	T|T	0.68337|0.68337	-0.5435|-0.5435	6|10	0.87932|0.39692	D|T	0|0.17	.|.	14.2798|14.2798	0.66202|0.66202	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|198;124;185	.|B7Z7J1;F2Z300;Q86UX6	.|.;.;ST32C_HUMAN	G|D	255|68;185;198	.|ENSP00000357611:N68D;ENSP00000298630:N185D;ENSP00000357614:N198D	ENSP00000357609:E255G|ENSP00000298630:N185D	E|N	-|-	2|1	0|0	STK32C|STK32C	133890380|133890380	1.000000|1.000000	0.71417|0.71417	0.995000|0.995000	0.50966|0.50966	0.918000|0.918000	0.54935|0.54935	5.673000|5.673000	0.68109|0.68109	1.790000|1.790000	0.52503|0.52503	0.378000|0.378000	0.23410|0.23410	GAA|AAC		0.612	STK32C-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000051068.2	NM_173575		7	65	0	0	0	1	0	7	65					C	134040390	T	C	134040390	3	2	104	1	0	0	0	0	1	0	0	0	15298	1783	62	4	943	4	STK32C	10	134040390	Missense_Mutation	SNP	T	TCGA-EJ-7794-01A-11D-2114-08	29903641	134040390	1494357	18	5716											
PTPRO	5800	broad.mit.edu	37	chr12	15742395	15742395	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acattcttttgcagtgctggCgtgggacggacaggaacatt	9	11	13	8	2	1	0	0	0	1	0	1	3	1	3	0	4	3	2	0	4	1	4	rs370164792		TCGA-EJ-7794-01A-11D-2114-08	TCGA-EJ-7794-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72ce9985-5383-41a0-a73d-5284713c9bba	a72932e7-2901-4401-8f43-07c9a529e422	g.chr12:15742395C>T	ENST00000281171.4	+	25	3747	c.3417C>T	c.(3415-3417)ggC>ggT	p.G1139G	PTPRO_ENST00000348962.2_Silent_p.G1111G|PTPRO_ENST00000544244.1_Silent_p.G300G|PTPRO_ENST00000542557.1_Silent_p.G300G|PTPRO_ENST00000442921.2_Silent_p.G328G|PTPRO_ENST00000445537.2_Silent_p.G328G	NM_030667.2	NP_109592.1	Q16827	PTPRO_HUMAN	protein tyrosine phosphatase, receptor type, O	1139	Substrate binding. {ECO:0000250}.|Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				axon guidance (GO:0007411)|cell morphogenesis (GO:0000902)|glomerular visceral epithelial cell differentiation (GO:0072112)|glomerulus development (GO:0032835)|lamellipodium assembly (GO:0030032)|monocyte chemotaxis (GO:0002548)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of glomerular filtration (GO:0003105)|negative regulation of neuron projection development (GO:0010977)|negative regulation of retinal ganglion cell axon guidance (GO:0090260)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of glomerular filtration (GO:0003093)|slit diaphragm assembly (GO:0036060)	apical plasma membrane (GO:0016324)|axon (GO:0030424)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	phosphatase activity (GO:0016791)|protein homodimerization activity (GO:0042803)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)|Wnt-protein binding (GO:0017147)			NS(2)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(11)|lung(30)|ovary(2)|prostate(1)|skin(17)|upper_aerodigestive_tract(1)	74		Hepatocellular(102;0.244)				GCAGTGCTGGCGTGGGACGGA	0.453																																						ENST00000281171.4																			0				NS(2)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(11)|lung(30)|ovary(2)|prostate(1)|skin(17)|upper_aerodigestive_tract(1)	74						c.(3415-3417)ggC>ggT		protein tyrosine phosphatase, receptor type, O		T	,,,,,	1,4405	2.1+/-5.4	0,1,2202	191	176	181		3333,3417,900,984,900,984	-10.2	0	12		181	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	PTPRO	NM_002848.3,NM_030667.2,NM_030668.2,NM_030669.2,NM_030670.2,NM_030671.2	,,,,,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,,,,,	1111/1189,1139/1217,300/378,328/406,300/378,328/406	15742395	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	5800					integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr12:15742395C>T	U20489	CCDS8674.1, CCDS8675.1, CCDS44837.1, CCDS53754.1	12p13-p12	2013-02-11			ENSG00000151490	ENSG00000151490		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Fibronectin type III domain containing"	9678	protein-coding gene	gene with protein product	"osteoclastic transmembrane protein-tyrosine phosphatase"	600579				7519601, 7665166, 21722858	Standard	NM_030667		Approved	PTPU2, GLEPP1, PTP-U2, PTP-oc, NPHS6	uc001rcv.2	Q16827	OTTHUMG00000168786	ENST00000281171.4:c.3417C>T	12.37:g.15742395C>T						PTPRO_ENST00000544244.1_Silent_p.G300G|PTPRO_ENST00000445537.2_Silent_p.G328G|PTPRO_ENST00000442921.2_Silent_p.G328G|PTPRO_ENST00000542557.1_Silent_p.G300G|PTPRO_ENST00000348962.2_Silent_p.G1111G	p.G1139G	NM_030667.2	NP_109592.1	Q16827	PTPRO_HUMAN			25	3747	+		Hepatocellular(102;0.244)	1139			Substrate binding (By similarity).|Tyrosine-protein phosphatase.		A0AV39|Q13101|Q8IYG3|Q9UBF0|Q9UBT5	Silent	SNP	ENST00000281171.4	37	c.3417C>T	CCDS8675.1																																																																																				0.453	PTPRO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401079.1			7	160	0	0	0	1	0	7	160					T	15742395	C	T	15742395	2	4	104	1	0	0	0	0	0	0	0	1	12809	755	27	1		1	PTPRO	12	15742395	Silent	SNP	C	TCGA-EJ-7794-01A-11D-2114-08		15742395	118109500	19	5717											
USP15	9958	broad.mit.edu	37	chr12	62777707	62777707	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gctttcctattagatggattAcatgaggatttgaatagaat	13	15	9	4	0	0	4	0	2	0	2	1	6	1	6	1	2	1	1	1	2	6	6			TCGA-EJ-7794-01A-11D-2114-08	TCGA-EJ-7794-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72ce9985-5383-41a0-a73d-5284713c9bba	a72932e7-2901-4401-8f43-07c9a529e422	g.chr12:62777707A>C	ENST00000280377.5	+	10	1234	c.1176A>C	c.(1174-1176)ttA>ttC	p.L392F	USP15_ENST00000353364.3_Missense_Mutation_p.L363F|USP15_ENST00000393654.3_Missense_Mutation_p.L367F	NM_001252078.1	NP_001239007.1	Q9Y4E8	UBP15_HUMAN	ubiquitin specific peptidase 15	392	USP.				BMP signaling pathway (GO:0030509)|monoubiquitinated protein deubiquitination (GO:0035520)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|protein deubiquitination (GO:0016579)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|identical protein binding (GO:0042802)|SMAD binding (GO:0046332)|transforming growth factor beta receptor binding (GO:0005160)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(15)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	37			GBM - Glioblastoma multiforme(1;0.000276)	GBM - Glioblastoma multiforme(28;0.0622)		TAGATGGATTACATGAGGATT	0.368																																					Melanoma(181;615 2041 39364 49691 50001)	ENST00000280377.5																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(15)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	37						c.(1174-1176)ttA>ttC		ubiquitin specific peptidase 15							92	89	90					12																	62777707		2203	4299	6502	SO:0001583	missense	9958				protein deubiquitination|ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr12:62777707A>C	AB011101	CCDS8963.1, CCDS58250.1, CCDS58251.1	12q14	2006-07-18	2005-08-08					"Ubiquitin-specific peptidases"	12613	protein-coding gene	gene with protein product		604731	"ubiquitin specific protease 15"			12838346	Standard	NM_001252078		Approved	KIAA0529, UNPH4	uc001src.2	Q9Y4E8	OTTHUMG00000170186	ENST00000280377.5:c.1176A>C	12.37:g.62777707A>C	ENSP00000280377:p.Leu392Phe					USP15_ENST00000353364.3_Missense_Mutation_p.L363F|USP15_ENST00000393654.3_Missense_Mutation_p.L367F	p.L392F	NM_001252078.1	NP_001239007.1	Q9Y4E8	UBP15_HUMAN	GBM - Glioblastoma multiforme(1;0.000276)	GBM - Glioblastoma multiforme(28;0.0622)	10	1234	+			392					Q08AL5|Q9H8G9|Q9HCA6|Q9UNP0|Q9Y5B5	Missense_Mutation	SNP	ENST00000280377.5	37	c.1176A>C	CCDS58251.1	.	.	.	.	.	.	.	.	.	.	A	18.39	3.612750	0.66672	.	.	ENSG00000135655	ENST00000353364;ENST00000280377;ENST00000393654	T;T;T	0.47528	3.36;3.36;0.84	5.4	2.99	0.34606	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.077209	0.52532	D	0.000069	T	0.69940	0.3167	M	0.89353	3.025	0.58432	D	0.999997	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.71467	-0.4584	9	.	.	.	-7.9875	10.0164	0.42016	0.8616:0.0:0.1384:0.0	.	392;363	Q9Y4E8;Q9Y4E8-2	UBP15_HUMAN;.	F	363;392;367	ENSP00000258123:L363F;ENSP00000280377:L392F;ENSP00000377264:L367F	.	L	+	3	2	USP15	61063974	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.015000	0.29963	0.463000	0.27118	0.533000	0.62120	TTA		0.368	USP15-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000407831.2	NM_006313		10	42	0	0	0	1	0	10	42					C	62777707	A	C	62777707	3	2	104	1	0	0	0	0	1	0	0	0	17043	388	14	5	1123	5	USP15	12	62777707	Missense_Mutation	SNP	A	TCGA-EJ-7794-01A-11D-2114-08	47035312	62777707	71074188	20	5718											
ANO4	121601	broad.mit.edu	37	chr12	101381393	101381393	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggacaaggagacactgccaGacctggaggagaatgactgc	13	5	14	9	0	0	4	0	1	0	3	0	8	0	6	2	4	2	0	2	4	2	0			TCGA-EJ-7794-01A-11D-2114-08	TCGA-EJ-7794-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72ce9985-5383-41a0-a73d-5284713c9bba	a72932e7-2901-4401-8f43-07c9a529e422	g.chr12:101381393G>T	ENST00000392977.3	+	8	889	c.679G>T	c.(679-681)Gac>Tac	p.D227Y	ANO4_ENST00000299222.9_5'UTR|ANO4_ENST00000392979.3_Missense_Mutation_p.D192Y|ANO4_ENST00000538618.1_3'UTR			Q32M45	ANO4_HUMAN	anoctamin 4	227					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)			NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						GACACTGCCAGACCTGGAGGA	0.498										HNSCC(74;0.22)	OREG0022059	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000392979.3																			0				NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						c.(574-576)Gac>Tac		anoctamin 4							232	205	214					12																	101381393		2203	4300	6503	SO:0001583	missense	121601					chloride channel complex	chloride channel activity	g.chr12:101381393G>T	AK091540	CCDS31884.1, CCDS66445.1	12q23.3	2014-04-09	2008-08-28	2008-08-28	ENSG00000151572	ENSG00000151572		"Ion channels / Chloride channels : Calcium activated : Anoctamins"	23837	protein-coding gene	gene with protein product		610111	"transmembrane protein 16D"	TMEM16D		12739008, 15067359, 24692353	Standard	NM_178826		Approved	FLJ34221, FLJ34272, FLJ35277	uc001thw.2	Q32M45		ENST00000392977.3:c.679G>T	12.37:g.101381393G>T	ENSP00000376703:p.Asp227Tyr	HNSCC(74;0.22)	OREG0022059	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1358	ANO4_ENST00000392977.3_Missense_Mutation_p.D227Y|ANO4_ENST00000299222.9_5'UTR|ANO4_ENST00000538618.1_3'UTR	p.D192Y	NM_178826.3	NP_849148.2	Q32M45	ANO4_HUMAN			7	935	+			227					Q8NAJ0|Q8NB39|Q8NB53	Missense_Mutation	SNP	ENST00000392977.3	37	c.574G>T		.	.	.	.	.	.	.	.	.	.	G	22.0	4.228162	0.79576	.	.	ENSG00000151572	ENST00000392979;ENST00000392977	T;T	0.66995	-0.24;-0.24	5.33	5.33	0.75918	.	0.000000	0.85682	D	0.000000	T	0.82033	0.4949	M	0.77103	2.36	0.80722	D	1	D;D	0.89917	0.997;1.0	D;D	0.74348	0.944;0.983	T	0.80652	-0.1287	10	0.34782	T	0.22	.	19.0483	0.93030	0.0:0.0:1.0:0.0	.	227;192	Q32M45;Q32M45-2	ANO4_HUMAN;.	Y	192;227	ENSP00000376705:D192Y;ENSP00000376703:D227Y	ENSP00000376703:D227Y	D	+	1	0	ANO4	99905524	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.593000	0.98250	2.495000	0.84180	0.655000	0.94253	GAC		0.498	ANO4-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000409295.1	NM_178826		24	151	1	0	4.16121e-05	1	4.6656e-05	24	151					T	101381393	G	T	101381393	3	4	104	1	0	0	0	0	1	0	0	0	699	942	33	5	596	5	ANO4	12	101381393	Missense_Mutation	SNP	G	TCGA-EJ-7794-01A-11D-2114-08	38603686	101381393	32470502	21	5719											
TBC1D2B	23102	broad.mit.edu	37	chr15	78317633	78317633	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	caggtctttctttaactgttCcagctcttcctgctggctct	4	17	7	13	0	4	0	0	0	4	0	6	0	6	0	2	2	3	4	2	2	1	5			TCGA-EJ-7794-01A-11D-2114-08	TCGA-EJ-7794-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72ce9985-5383-41a0-a73d-5284713c9bba	a72932e7-2901-4401-8f43-07c9a529e422	g.chr15:78317633C>T	ENST00000300584.3	-	5	1053	c.1054G>A	c.(1054-1056)Gaa>Aaa	p.E352K	TBC1D2B_ENST00000409931.3_Missense_Mutation_p.E352K	NM_015079.5|NM_144572.1	NP_055894.6|NP_653173.1	Q9UPU7	TBD2B_HUMAN	TBC1 domain family, member 2B	352							Rab GTPase activator activity (GO:0005097)			breast(3)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(2)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	26						TTTAACTGTTCCAGCTCTTCC	0.547																																						ENST00000409931.3																			0				breast(3)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(2)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	26						c.(1054-1056)Gaa>Aaa		TBC1 domain family, member 2B							108	93	98					15																	78317633		2196	4293	6489	SO:0001583	missense	23102					intracellular	protein binding|Rab GTPase activator activity	g.chr15:78317633C>T	AB028978	CCDS32301.2, CCDS45314.1	15q24.3-q25.1	2005-11-29			ENSG00000167202	ENSG00000167202			29183	protein-coding gene	gene with protein product						10470851	Standard	NM_015079		Approved	KIAA1055	uc002bcy.4	Q9UPU7	OTTHUMG00000152885	ENST00000300584.3:c.1054G>A	15.37:g.78317633C>T	ENSP00000300584:p.Glu352Lys					TBC1D2B_ENST00000300584.3_Missense_Mutation_p.E352K	p.E352K			Q9UPU7	TBD2B_HUMAN			5	1125	-			352					A7MD42|Q8N1F9|Q9NXM0	Missense_Mutation	SNP	ENST00000300584.3	37	c.1054G>A	CCDS45314.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.01|14.01	2.406488|2.406488	0.42715|0.42715	.|.	.|.	ENSG00000167202|ENSG00000167202	ENST00000409931;ENST00000300584;ENST00000435468|ENST00000418039	T;T|.	0.08546|.	3.08;3.09|.	5.47|5.47	5.47|5.47	0.80525|0.80525	.|.	0.651407|.	0.16510|.	N|.	0.211292|.	T|.	0.76543|.	0.4002|.	M|M	0.75447|0.75447	2.3|2.3	0.40081|0.40081	D|D	0.97613|0.97613	P;P|.	0.41848|.	0.763;0.651|.	B;B|.	0.36608|.	0.229;0.115|.	T|.	0.77027|.	-0.2740|.	10|.	0.30078|.	T|.	0.28|.	.|.	18.3095|18.3095	0.90194|0.90194	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	352;352|.	Q9UPU7-2;Q9UPU7|.	.;TBD2B_HUMAN|.	K|X	352;352;240|233	ENSP00000387165:E352K;ENSP00000300584:E352K|.	ENSP00000300584:E352K|.	E|W	-|-	1|3	0|0	TBC1D2B|TBC1D2B	76104688|76104688	0.999000|0.999000	0.42202|0.42202	0.982000|0.982000	0.44146|0.44146	0.572000|0.572000	0.35998|0.35998	3.795000|3.795000	0.55499|0.55499	2.556000|2.556000	0.86216|0.86216	0.555000|0.555000	0.69702|0.69702	GAA|TGG		0.547	TBC1D2B-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000328369.3	NM_015079		9	76	0	0	0	1	0	9	76					T	78317633	C	T	78317633	3	4	104	1	0	0	0	0	1	0	0	0	15616	864	30	3	1873	3	TBC1D2B	15	78317633	Missense_Mutation	SNP	C	TCGA-EJ-7794-01A-11D-2114-08		78317633	24213759	22	5720											
RAI1	10743	broad.mit.edu	37	chr17	17697096	17697096	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggccgcctcagctatgaccaGcagcagcagcagcagcagca	11	3	12	15	1	1	1	1	1	0	0	1	1	1	1	3	1	8	8	3	1	1	1	rs113303801|rs398124422|rs371983878|rs571229335|rs587780431	byFrequency	TCGA-EJ-7794-01A-11D-2114-08	TCGA-EJ-7794-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72ce9985-5383-41a0-a73d-5284713c9bba	a72932e7-2901-4401-8f43-07c9a529e422	g.chr17:17697096G>C	ENST00000353383.1	+	3	1303	c.834G>C	c.(832-834)caG>caC	p.Q278H	RAI1_ENST00000261641.6_Missense_Mutation_p.Q278H	NM_030665.3	NP_109590.3	Q7Z5J4	RAI1_HUMAN	retinoic acid induced 1	278	Gln-rich.|Poly-Gln.				circadian regulation of gene expression (GO:0032922)|negative regulation of multicellular organism growth (GO:0040015)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	enhancer binding (GO:0035326)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(5)|urinary_tract(7)	48				READ - Rectum adenocarcinoma(1115;0.0276)		GCTATGACcagcagcagcagc	0.637																																						ENST00000353383.1																			0				breast(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(5)|urinary_tract(7)	48						c.(832-834)caG>caC		retinoic acid induced 1							18	23	22					17																	17697096		2081	4107	6188	SO:0001583	missense	10743					cytoplasm|nucleus	zinc ion binding	g.chr17:17697096G>C	AJ230819	CCDS11188.1	17p11.2	2011-02-08			ENSG00000108557	ENSG00000108557			9834	protein-coding gene	gene with protein product		607642	"Smith-Magenis syndrome chromosome region"	SMCR		10036180	Standard	NM_030665		Approved	DKFZP434A139, SMS, KIAA1820, MGC12824	uc002grm.3	Q7Z5J4	OTTHUMG00000059314	ENST00000353383.1:c.834G>C	17.37:g.17697096G>C	ENSP00000323074:p.Gln278His					RAI1_ENST00000261641.6_Missense_Mutation_p.Q278H	p.Q278H	NM_030665.3	NP_109590.3	Q7Z5J4	RAI1_HUMAN		READ - Rectum adenocarcinoma(1115;0.0276)	3	1303	+			278			Gln-rich.|Poly-Gln.		Q8N3B4|Q8ND08|Q8WU64|Q96JK5|Q9H1C1|Q9H1C2|Q9UF69	Missense_Mutation	SNP	ENST00000353383.1	37	c.834G>C	CCDS11188.1	.	.	.	.	.	.	.	.	.	.	g	0.076	-1.192861	0.01607	.	.	ENSG00000108557	ENST00000353383;ENST00000395774;ENST00000395776;ENST00000355970;ENST00000261641;ENST00000315321	T;T;T	0.69806	-0.43;1.41;0.17	4.53	-9.06	0.00727	.	0.597522	0.15390	N	0.264894	T	0.43743	0.1261	L	0.39898	1.24	0.18873	N	0.999987	P	0.37864	0.61	B	0.37198	0.243	T	0.31392	-0.9945	10	0.35671	T	0.21	.	4.0515	0.09798	0.4386:0.1326:0.3468:0.0819	.	278	Q7Z5J4	RAI1_HUMAN	H	278;278;278;278;278;255	ENSP00000323074:Q278H;ENSP00000379120:Q278H;ENSP00000261641:Q278H	ENSP00000261641:Q278H	Q	+	3	2	RAI1	17637821	0.953000	0.32496	0.000000	0.03702	0.311000	0.27955	0.063000	0.14410	-2.722000	0.00388	-1.461000	0.01025	CAG		0.637	RAI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131775.1	NM_030665		3	40	0	0	0	1	0	3	40					C	17697096	G	C	17697096	3	2	104	1	0	0	0	0	1	0	0	0	13007	962	34	5	836	5	RAI1	17	17697096	Missense_Mutation	SNP	G	TCGA-EJ-7794-01A-11D-2114-08		17697096	63498114	23	5721											
SUPT6H	6830	broad.mit.edu	37	chr17	27022376	27022376	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttctgtggatctaggtgggaAtgactgttcactgccgcatc	7	13	12	9	1	3	1	1	1	2	0	4	3	3	3	1	3	1	2	1	3	2	3			TCGA-EJ-7794-01A-11D-2114-08	TCGA-EJ-7794-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72ce9985-5383-41a0-a73d-5284713c9bba	a72932e7-2901-4401-8f43-07c9a529e422	g.chr17:27022376A>G	ENST00000314616.6	+	29	4064	c.3781A>G	c.(3781-3783)Atg>Gtg	p.M1261V	SUPT6H_ENST00000347486.4_Missense_Mutation_p.M1261V	NM_003170.3	NP_003161.2	Q7KZ85	SPT6H_HUMAN	suppressor of Ty 6 homolog (S. cerevisiae)	1261	Interaction with KDM6A. {ECO:0000250}.|S1 motif. {ECO:0000255|PROSITE- ProRule:PRU00180}.				chromatin remodeling (GO:0006338)|mRNA processing (GO:0006397)|mRNA transport (GO:0051028)|negative regulation of histone H3-K27 methylation (GO:0061086)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|regulation of isotype switching (GO:0045191)|regulation of mRNA export from nucleus (GO:0010793)|regulation of mRNA processing (GO:0050684)|regulation of muscle cell differentiation (GO:0051147)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone binding (GO:0042393)|hydrolase activity, acting on ester bonds (GO:0016788)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	Lung NSC(42;0.00431)					ctaGGTGGGAATGACTGTTCA	0.488																																						ENST00000314616.6																			0				NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						c.(3781-3783)Atg>Gtg		suppressor of Ty 6 homolog (S. cerevisiae)							95	70	79					17																	27022376		2203	4300	6503	SO:0001583	missense	6830				chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter	nucleus	hydrolase activity, acting on ester bonds|RNA binding|sequence-specific DNA binding transcription factor activity	g.chr17:27022376A>G	U38658	CCDS32596.1	17q11.2	2013-02-14	2001-11-28			ENSG00000109111		"SH2 domain containing"	11470	protein-coding gene	gene with protein product		601333	"suppressor of Ty (S.cerevisiae) 6 homolog"			8786132	Standard	XM_005258026		Approved	KIAA0162, SPT6H	uc002hby.3	Q7KZ85		ENST00000314616.6:c.3781A>G	17.37:g.27022376A>G	ENSP00000319104:p.Met1261Val					SUPT6H_ENST00000347486.4_Missense_Mutation_p.M1261V	p.M1261V	NM_003170.3	NP_003161.2	Q7KZ85	SPT6H_HUMAN			29	4064	+	Lung NSC(42;0.00431)		1261			S1 motif.		A7E2B4|Q15737|Q6GMQ4|Q7KYW9|Q7LDK4|Q8N526|Q92775|Q96AH3|Q9BTH9|Q9BTI2	Missense_Mutation	SNP	ENST00000314616.6	37	c.3781A>G	CCDS32596.1	.	.	.	.	.	.	.	.	.	.	A	21.1	4.103089	0.76983	.	.	ENSG00000109111	ENST00000314616	T	0.40476	1.03	5.59	5.59	0.84812	Nucleic acid-binding, OB-fold-like (1);Nucleic acid-binding, OB-fold (1);RNA-binding domain, S1 (1);Ribosomal protein S1, RNA-binding domain (2);	0.070311	0.85682	D	0.000000	T	0.53883	0.1824	L	0.59912	1.85	0.80722	D	1	D	0.56521	0.976	P	0.54270	0.747	T	0.54330	-0.8310	10	0.46703	T	0.11	-20.9434	15.7706	0.78164	1.0:0.0:0.0:0.0	.	1261	Q7KZ85	SPT6H_HUMAN	V	1261	ENSP00000319104:M1261V	ENSP00000319104:M1261V	M	+	1	0	SUPT6H	24046503	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.848000	0.92172	2.123000	0.65237	0.533000	0.62120	ATG		0.488	SUPT6H-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446422.2	NM_003170		10	29	0	0	0	1	0	10	29					G	27022376	A	G	27022376	3	3	104	1	0	0	0	0	1	0	0	0	15397	101	4	4	3891	4	SUPT6H	17	27022376	Missense_Mutation	SNP	A	TCGA-EJ-7794-01A-11D-2114-08	9325280	27022376	54172834	24	5722											
SYMPK	8189	broad.mit.edu	37	chr19	46334800	46334800	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acgctctctgtcttcaccacCttctcctccttgggctcctc	3	14	5	19	1	4	0	1	0	3	0	9	0	6	0	5	1	0	2	5	1	0	3			TCGA-EJ-7794-01A-11D-2114-08	TCGA-EJ-7794-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72ce9985-5383-41a0-a73d-5284713c9bba	a72932e7-2901-4401-8f43-07c9a529e422	g.chr19:46334800C>T	ENST00000245934.7	-	12	1684	c.1440G>A	c.(1438-1440)aaG>aaA	p.K480K	AC092301.3_ENST00000601618.1_RNA	NM_004819.2	NP_004810.2	Q92797	SYMPK_HUMAN	symplekin	480					cell adhesion (GO:0007155)|mRNA polyadenylation (GO:0006378)|positive regulation of protein dephosphorylation (GO:0035307)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(25)|ovary(1)|urinary_tract(1)	45		all_neural(266;0.0299)|Ovarian(192;0.0308)		OV - Ovarian serous cystadenocarcinoma(262;0.00509)|GBM - Glioblastoma multiforme(486;0.0593)		TCTTCACCACCTTCTCCTCCT	0.622																																						ENST00000245934.7																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(25)|ovary(1)|urinary_tract(1)	45						c.(1438-1440)aaG>aaA		symplekin							113	94	100					19																	46334800		2203	4300	6503	SO:0001819	synonymous_variant	8189				cell adhesion|mRNA processing	cytoplasm|cytoskeleton|nucleoplasm|tight junction	protein binding	g.chr19:46334800C>T	U49240	CCDS12676.2	19q13.3	2008-02-05			ENSG00000125755	ENSG00000125755			22935	protein-coding gene	gene with protein product		602388				9330635	Standard	NM_004819		Approved	SYM, SPK	uc002pdn.3	Q92797	OTTHUMG00000150151	ENST00000245934.7:c.1440G>A	19.37:g.46334800C>T							p.K480K	NM_004819.2	NP_004810.2	Q92797	SYMPK_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00509)|GBM - Glioblastoma multiforme(486;0.0593)	12	1684	-		all_neural(266;0.0299)|Ovarian(192;0.0308)	480					O00521|O00689|O00733|Q59GT5|Q8N2U5	Silent	SNP	ENST00000245934.7	37	c.1440G>A	CCDS12676.2																																																																																				0.622	SYMPK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316581.1	NM_004819		3	17	0	0	0	1	0	3	17					T	46334800	C	T	46334800	2	4	104	1	0	0	0	0	0	0	0	1	15436	680	24	3		3	SYMPK	19	46334800	Silent	SNP	C	TCGA-EJ-7794-01A-11D-2114-08		46334800	12794183	25	5723											
ZNF616	90317	broad.mit.edu	37	chr19	52618945	52618945	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	attcattgcatttgtaaggtTtctctccagtatgaattctc	9	18	6	8	0	3	1	1	1	2	0	6	1	4	1	1	1	1	4	1	1	3	7			TCGA-EJ-7794-01A-11D-2114-08	TCGA-EJ-7794-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72ce9985-5383-41a0-a73d-5284713c9bba	a72932e7-2901-4401-8f43-07c9a529e422	g.chr19:52618945T>C	ENST00000600228.1	-	4	1733	c.1472A>G	c.(1471-1473)aAa>aGa	p.K491R	ZNF616_ENST00000330123.5_3'UTR	NM_178523.3	NP_848618.2	Q08AN1	ZN616_HUMAN	zinc finger protein 616	491					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48				GBM - Glioblastoma multiforme(134;0.00392)|OV - Ovarian serous cystadenocarcinoma(262;0.0189)		TTTGTAAGGTTTCTCTCCAGT	0.403																																						ENST00000600228.1																			0				breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						c.(1471-1473)aAa>aGa		zinc finger protein 616							105	98	101					19																	52618945		2203	4300	6503	SO:0001583	missense	90317				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52618945T>C	AK092266	CCDS33090.1	19q13.41	2013-01-08				ENSG00000204611		"Zinc fingers, C2H2-type", "-"	28062	protein-coding gene	gene with protein product							Standard	NM_178523		Approved	MGC45556	uc002pym.3	Q08AN1		ENST00000600228.1:c.1472A>G	19.37:g.52618945T>C	ENSP00000471000:p.Lys491Arg					ZNF616_ENST00000330123.5_3'UTR	p.K491R	NM_178523.3	NP_848618.2	Q08AN1	ZN616_HUMAN		GBM - Glioblastoma multiforme(134;0.00392)|OV - Ovarian serous cystadenocarcinoma(262;0.0189)	4	1733	-			491					B3KRV1|Q0P658|Q658V7	Missense_Mutation	SNP	ENST00000600228.1	37	c.1472A>G	CCDS33090.1	.	.	.	.	.	.	.	.	.	.	T	19.53	3.845472	0.71603	.	.	ENSG00000204611	ENST00000330123	.	.	.	1.08	0.0163	0.14107	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.27134	0.0665	N	0.20807	0.61	0.23632	N	0.997241	P	0.49696	0.927	P	0.49192	0.602	T	0.13361	-1.0512	8	0.56958	D	0.05	.	5.2795	0.15668	0.0:0.1841:0.0:0.8159	.	491	Q08AN1	ZN616_HUMAN	R	491	.	ENSP00000328722:K491R	K	-	2	0	ZNF616	57310757	0.000000	0.05858	0.011000	0.14972	0.895000	0.52256	-0.230000	0.09083	-0.055000	0.13244	0.254000	0.18369	AAA		0.403	ZNF616-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462451.1	XM_030892		3	105	0	0	0	1	0	3	105					C	52618945	T	C	52618945	3	2	104	1	0	0	0	0	1	0	0	0	18038	1841	64	4	877	4	ZNF616	19	52618945	Missense_Mutation	SNP	T	TCGA-EJ-7794-01A-11D-2114-08	6284145	52618945	6510038	26	5724											
OSCAR	126014	broad.mit.edu	37	chr19	54598563	54598563	+	3'UTR	DEL	C	C	-																															cgcgcccagggagatgaggaCcagcccggccagccccaggc																										TCGA-EJ-7794-01A-11D-2114-08	TCGA-EJ-7794-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72ce9985-5383-41a0-a73d-5284713c9bba	a72932e7-2901-4401-8f43-07c9a529e422	g.chr19:54598563delC	ENST00000284648.6	-	0	1426				OSCAR_ENST00000391761.1_3'UTR|OSCAR_ENST00000358375.4_Frame_Shift_Del_p.V239fs|OSCAR_ENST00000359649.4_3'UTR|OSCAR_ENST00000356532.3_Frame_Shift_Del_p.V243fs|OSCAR_ENST00000351806.4_Frame_Shift_Del_p.V228fs			Q8IYS5	OSCAR_HUMAN	osteoclast associated, immunoglobulin-like receptor							extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				large_intestine(1)|skin(1)	2	all_cancers(19;0.0128)|all_epithelial(19;0.00564)|all_lung(19;0.031)|Lung NSC(19;0.0358)|Ovarian(34;0.19)					GAGATGAGGACCAGCCCGGCC	0.697																																						ENST00000358375.4																			0				large_intestine(1)|skin(1)	2						c.(715-717)tcfs		osteoclast associated, immunoglobulin-like receptor							16	19	18					19																	54598563		2198	4291	6489	SO:0001624	3_prime_UTR_variant	126014					extracellular region|integral to membrane|plasma membrane	receptor activity	g.chr19:54598563delC	AK130199	CCDS12873.1, CCDS12874.1, CCDS12875.1, CCDS12876.1, CCDS62789.1, CCDS74444.1	19q13.42	2013-01-29			ENSG00000170909	ENSG00000170909		"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	29960	protein-coding gene	gene with protein product		606862				11805147	Standard	NM_206818		Approved		uc002qda.3	Q8IYS5	OTTHUMG00000064966	ENST00000284648.6:c.*380G>-	19.37:g.54598563delC						OSCAR_ENST00000351806.4_Frame_Shift_Del_p.V228fs|OSCAR_ENST00000391761.1_3'UTR|OSCAR_ENST00000356532.3_Frame_Shift_Del_p.V243fs|OSCAR_ENST00000284648.6_3'UTR|OSCAR_ENST00000359649.4_3'UTR	p.V239fs	NM_133169.3	NP_573399.1	Q8IYS5	OSCAR_HUMAN			5	760	-	all_cancers(19;0.0128)|all_epithelial(19;0.00564)|all_lung(19;0.031)|Lung NSC(19;0.0358)|Ovarian(34;0.19)		0					B7WNS2|Q5GRG5|Q8N763|Q8NHL4|Q8WXQ0|Q8WXQ1|Q8WXQ2	Frame_Shift_Del	DEL	ENST00000284648.6	37	c.715delG																																																																																					0.697	OSCAR-001	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000139493.4	NM_133169		4	8						4	8	---	---	---	---	-	54598563	C	-	54598563	6	5	104	0	1	1	0	1	0	0	0	0	11285	507	18	0		0	OSCAR	19	54598563	3'UTR	DEL	C	TCGA-EJ-7794-01A-11D-2114-08	1979618	54598563	4530420	27	5725											
PTPRA	5786	broad.mit.edu	37	chr20	3005196	3005196	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aactggaagtgacctctctaGaaacccacctgcagaaaatt	15	8	7	11	0	1	3	0	1	1	2	2	4	1	4	3	1	3	1	3	1	6	2			TCGA-EJ-7794-01A-11D-2114-08	TCGA-EJ-7794-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72ce9985-5383-41a0-a73d-5284713c9bba	a72932e7-2901-4401-8f43-07c9a529e422	g.chr20:3005196G>A	ENST00000216877.6	+	16	1916	c.1516G>A	c.(1516-1518)Gaa>Aaa	p.E506K	PTPRA_ENST00000318266.5_Missense_Mutation_p.E506K|PTPRA_ENST00000358719.4_Missense_Mutation_p.E371K|PTPRA_ENST00000380393.3_Missense_Mutation_p.E515K|PTPRA_ENST00000425918.2_Missense_Mutation_p.E526K|PTPRA_ENST00000356147.3_Missense_Mutation_p.E506K|PTPRA_ENST00000399903.2_Missense_Mutation_p.E515K	NM_080840.2	NP_543030.1	P18433	PTPRA_HUMAN	protein tyrosine phosphatase, receptor type, A	515					axon guidance (GO:0007411)|insulin receptor signaling pathway (GO:0008286)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein phosphorylation (GO:0006468)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(1)|endometrium(3)|large_intestine(3)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						GACCTCTCTAGAAACCCACCT	0.433																																						ENST00000216877.6																			0				NS(1)|breast(1)|endometrium(3)|large_intestine(3)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						c.(1516-1518)Gaa>Aaa		protein tyrosine phosphatase, receptor type, A							141	141	141					20																	3005196		2203	4300	6503	SO:0001583	missense	0				axon guidance|protein phosphorylation	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity	g.chr20:3005196G>A		CCDS13038.1, CCDS13039.1	20p13	2011-06-09			ENSG00000132670	ENSG00000132670		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"	9664	protein-coding gene	gene with protein product		176884		PTPRL2, PTPA		2172030, 2169617	Standard	NM_080840		Approved	LRP, HLPR, HPTPA, RPTPA	uc002whn.3	P18433	OTTHUMG00000031718	ENST00000216877.6:c.1516G>A	20.37:g.3005196G>A	ENSP00000216877:p.Glu506Lys					PTPRA_ENST00000318266.5_Missense_Mutation_p.E506K|PTPRA_ENST00000380393.3_Missense_Mutation_p.E515K|PTPRA_ENST00000425918.2_Missense_Mutation_p.E526K|PTPRA_ENST00000399903.2_Missense_Mutation_p.E515K|PTPRA_ENST00000356147.3_Missense_Mutation_p.E506K|PTPRA_ENST00000358719.4_Missense_Mutation_p.E371K	p.E506K	NM_080840.2	NP_543030.1	P18433	PTPRA_HUMAN			16	1916	+			515					A8K2G8|D3DVX5|Q14513|Q7Z2I2|Q96TD9	Missense_Mutation	SNP	ENST00000216877.6	37	c.1516G>A	CCDS13039.1	.	.	.	.	.	.	.	.	.	.	G	35	5.442869	0.96187	.	.	ENSG00000132670	ENST00000380393;ENST00000216877;ENST00000399903;ENST00000358719;ENST00000542217;ENST00000425918;ENST00000318266;ENST00000356147	T;T;T;T;T;T;T	0.11495	2.77;2.77;2.77;2.77;2.77;2.77;2.77	6.04	6.04	0.98038	.	0.057775	0.64402	U	0.000002	T	0.33323	0.0859	M	0.79926	2.475	0.80722	D	1	B;B;D	0.54772	0.022;0.189;0.968	B;B;P	0.56700	0.014;0.081;0.804	T	0.00814	-1.1555	10	0.48119	T	0.1	.	20.5792	0.99380	0.0:0.0:1.0:0.0	.	526;515;506	B7Z2A4;P18433;P18433-4	.;PTPRA_HUMAN;.	K	515;506;515;371;125;526;506;506	ENSP00000369756:E515K;ENSP00000216877:E506K;ENSP00000382787:E515K;ENSP00000351559:E371K;ENSP00000393553:E526K;ENSP00000314568:E506K;ENSP00000348468:E506K	ENSP00000216877:E506K	E	+	1	0	PTPRA	2953196	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.869000	0.99810	2.873000	0.98535	0.561000	0.74099	GAA		0.433	PTPRA-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077682.3			15	116	0	0	0	1	0	15	116					A	3005196	G	A	3005196	3	1	104	1	0	0	0	0	1	0	0	0	12795	943	33	3	1597	3	PTPRA	20	3005196	Missense_Mutation	SNP	G	TCGA-EJ-7794-01A-11D-2114-08		3005196	60020324	28	5726											
TMEM90B	79953	broad.mit.edu	37	chr20	24524183	24524185	+	In_Frame_Del	DEL	GGA	GGA	-																															cacaccctgtcctacgatgtGgaggaggaggaggagttcca																										TCGA-EJ-7794-01A-11D-2114-08	TCGA-EJ-7794-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72ce9985-5383-41a0-a73d-5284713c9bba	beb230fc-309d-4188-850b-011d77acbf13	g.chr20:24524183_24524185delGGA	ENST00000376862.3	+	2	1083_1085	c.450_452delGGA	c.(448-453)gtggag>gtg	p.E155del		NM_024893.1	NP_079169.1	Q9H7V2	SYNG1_HUMAN	synapse differentiation inducing 1	155	Poly-Glu.				intracellular protein transport (GO:0006886)|positive regulation of synapse assembly (GO:0051965)|response to biotic stimulus (GO:0009607)|synaptic vesicle clustering (GO:0097091)	cell body (GO:0044297)|cell junction (GO:0030054)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|early endosome membrane (GO:0031901)|excitatory synapse (GO:0060076)|integral component of plasma membrane (GO:0005887)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	glutamate receptor binding (GO:0035254)|protein homodimerization activity (GO:0042803)			breast(2)|endometrium(1)|large_intestine(3)|lung(14)|prostate(1)|skin(3)	24						CCTACGATGTGGAGGAGGAGGAG	0.547																																						ENST00000376862.3																			0				breast(2)|endometrium(1)|large_intestine(3)|lung(14)|prostate(1)|skin(3)	24						c.(448-453)gtg>gt		synapse differentiation inducing 1																																				SO:0001651	inframe_deletion	79953				response to biotic stimulus	early endosome membrane|integral to membrane|plasma membrane		g.chr20:24524183_24524185delGGA	AK024282	CCDS13164.1	20p11.21	2011-06-30	2011-06-30	2011-06-30	ENSG00000101463	ENSG00000101463			15885	protein-coding gene	gene with protein product	"interferon induced transmembrane protein domain containing 5", "synapse differentiation induced gene 1"	614311	"chromosome 20 open reading frame 39", "transmembrane protein 90B"	C20orf39, TMEM90B		20152115	Standard	NM_024893		Approved	FLJ14220, IFITMD5, SynDIG1	uc002wtw.1	Q9H7V2	OTTHUMG00000032104	ENST00000376862.3:c.450_452delGGA	20.37:g.24524192_24524194delGGA	ENSP00000366058:p.Glu155del						p.VE150del	NM_024893.1	NP_079169.1	Q9H7V2	SYNG1_HUMAN			2	1083_1085	+			150					Q6IA30|Q9H514	In_Frame_Del	DEL	ENST00000376862.3	37	c.450_452delGGA	CCDS13164.1																																																																																				0.547	SYNDIG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078376.1	NM_024893		9	252						9	252	---	---	---	---	-	24524185	GGA	-	24524183	7	5	104	1	0	1	0	1	0	0	0	0	16216	1335	47	0	452	0	TMEM90B	20	24524183	In_Frame_Del	DEL	GGA	TCGA-EJ-7794-01A-11D-2114-08	21518987	24524183	38501337	29	5727											
ATP9A	10079	broad.mit.edu	37	chr20	50307319	50307319	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gttgtgaatgtcaatatttgGctcttctgcgtacacatacg	9	15	9	8	2	3	1	1	1	2	0	3	1	3	1	0	1	3	3	0	1	5	6			TCGA-EJ-7794-01A-11D-2114-08	TCGA-EJ-7794-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72ce9985-5383-41a0-a73d-5284713c9bba	a72932e7-2901-4401-8f43-07c9a529e422	g.chr20:50307319G>A	ENST00000338821.5	-	8	946	c.682C>T	c.(682-684)Cca>Tca	p.P228S	ATP9A_ENST00000402822.1_Intron|ATP9A_ENST00000311637.5_Intron	NM_006045.1	NP_006036.1	O75110	ATP9A_HUMAN	ATPase, class II, type 9A	228					phospholipid translocation (GO:0045332)	early endosome (GO:0005769)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(10)|lung(18)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						TCAATATTTGGCTCTTCTGCG	0.463																																						ENST00000338821.5																			0				breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(10)|lung(18)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						c.(682-684)Cca>Tca		ATPase, class II, type 9A							215	193	200					20																	50307319		2203	4300	6503	SO:0001583	missense	10079				ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr20:50307319G>A	AB014511	CCDS33489.1	20q13.2	2010-04-20	2007-09-19		ENSG00000054793	ENSG00000054793		"ATPases / P-type"	13540	protein-coding gene	gene with protein product		609126	"ATPase, Class II, type 9A"			9734811, 11015572	Standard	NM_006045		Approved	KIAA0611, ATPIIA	uc002xwg.1	O75110	OTTHUMG00000032751	ENST00000338821.5:c.682C>T	20.37:g.50307319G>A	ENSP00000342481:p.Pro228Ser					ATP9A_ENST00000402822.1_Intron|ATP9A_ENST00000311637.5_Intron	p.P228S	NM_006045.1	NP_006036.1	O75110	ATP9A_HUMAN			8	946	-			228					E1P5Y3|E1P5Y4|Q5TFW5|Q5TFW6|Q5TFW9|Q6ZMF3|Q9NQK6|Q9NQK7	Missense_Mutation	SNP	ENST00000338821.5	37	c.682C>T	CCDS33489.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.169982	0.78452	.	.	ENSG00000054793	ENST00000338821	D	0.84873	-1.91	5.33	5.33	0.75918	ATPase, P-type, ATPase-associated domain (1);	0.000000	0.85682	D	0.000000	D	0.94245	0.8152	M	0.91459	3.21	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.95254	0.8362	10	0.87932	D	0	-21.8008	19.0096	0.92868	0.0:0.0:1.0:0.0	.	228	O75110	ATP9A_HUMAN	S	228	ENSP00000342481:P228S	ENSP00000342481:P228S	P	-	1	0	ATP9A	49740726	1.000000	0.71417	0.970000	0.41538	0.407000	0.30961	9.448000	0.97600	2.487000	0.83934	0.561000	0.74099	CCA		0.463	ATP9A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106494.1	NM_006045		6	155	0	0	0	1	0	6	155					A	50307319	G	A	50307319	3	1	104	1	0	0	0	0	1	0	0	0	1198	1203	42	3	2545	3	ATP9A	20	50307319	Missense_Mutation	SNP	G	TCGA-EJ-7794-01A-11D-2114-08	25783136	50307319	12718201	30	5728											
NPHP4	261734	broad.mit.edu	37	chr1	5934619	5934619	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggcgcaggtagagctgggggGccaggctgccacgcaggtgg	6	4	21	10	2	0	1	0	0	0	1	0	1	0	1	2	8	2	5	2	8	1	1			TCGA-EJ-7797-01A-11D-2260-08	TCGA-EJ-7797-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4637e5f8-e2cb-48ac-8f87-ef89e3c37574	c5de444a-73e7-4ab5-a966-7865d0d139ec	g.chr1:5934619G>A	ENST00000378156.4	-	22	3408	c.3143C>T	c.(3142-3144)gCc>gTc	p.A1048V	NPHP4_ENST00000478423.2_5'UTR	NM_015102.3	NP_055917.1	O75161	NPHP4_HUMAN	nephronophthisis 4	1048					actin cytoskeleton organization (GO:0030036)|hippo signaling (GO:0035329)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|retina development in camera-type eye (GO:0060041)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|visual behavior (GO:0007632)	cell-cell junction (GO:0005911)|centrosome (GO:0005813)|cytosol (GO:0005829)|membrane (GO:0016020)|nonmotile primary cilium (GO:0031513)|tight junction (GO:0005923)	structural molecule activity (GO:0005198)			NS(1)|breast(2)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(4)	47	Ovarian(185;0.0634)	all_cancers(23;7.53e-41)|all_epithelial(116;3.96e-23)|all_lung(118;5.12e-09)|all_hematologic(16;5.45e-07)|Lung NSC(185;5.49e-07)|all_neural(13;3.21e-06)|Acute lymphoblastic leukemia(12;3.44e-05)|Breast(487;0.000601)|Renal(390;0.0007)|Colorectal(325;0.00113)|Hepatocellular(190;0.00213)|Glioma(11;0.00223)|Myeloproliferative disorder(586;0.0256)|Ovarian(437;0.04)|Lung SC(97;0.128)|Medulloblastoma(700;0.213)		Epithelial(90;1.69e-36)|GBM - Glioblastoma multiforme(13;5.07e-29)|OV - Ovarian serous cystadenocarcinoma(86;1.05e-19)|Colorectal(212;4.54e-07)|COAD - Colon adenocarcinoma(227;3.14e-05)|Kidney(185;0.00012)|BRCA - Breast invasive adenocarcinoma(365;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00179)|STAD - Stomach adenocarcinoma(132;0.00472)|READ - Rectum adenocarcinoma(331;0.0649)		GAGCTGGGGGGCCAGGCTGCC	0.652																																						ENST00000378156.4																			0				NS(1)|breast(2)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(4)	47						c.(3142-3144)gCc>gTc		nephronophthisis 4							19	22	21					1																	5934619		2144	4222	6366	SO:0001583	missense	261734				actin cytoskeleton organization|cell-cell adhesion|signal transduction|visual behavior	cell-cell junction|centrosome|cilium|microtubule basal body	protein binding|structural molecule activity	g.chr1:5934619G>A	AB014573	CCDS44052.1	1p36	2010-03-26			ENSG00000131697	ENSG00000131697			19104	protein-coding gene	gene with protein product	"nephroretinin", "nephrocystin-4", "POC10 centriolar protein homolog (Chlamydomonas)"	607215				11920287, 12205563	Standard	XR_244787		Approved	SLSN4, KIAA0673, POC10	uc001alq.2	O75161	OTTHUMG00000000701	ENST00000378156.4:c.3143C>T	1.37:g.5934619G>A	ENSP00000367398:p.Ala1048Val					NPHP4_ENST00000478423.2_5'UTR	p.A1048V	NM_015102.3	NP_055917.1	O75161	NPHP4_HUMAN		Epithelial(90;1.69e-36)|GBM - Glioblastoma multiforme(13;5.07e-29)|OV - Ovarian serous cystadenocarcinoma(86;1.05e-19)|Colorectal(212;4.54e-07)|COAD - Colon adenocarcinoma(227;3.14e-05)|Kidney(185;0.00012)|BRCA - Breast invasive adenocarcinoma(365;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00179)|STAD - Stomach adenocarcinoma(132;0.00472)|READ - Rectum adenocarcinoma(331;0.0649)	22	3408	-	Ovarian(185;0.0634)	all_cancers(23;7.53e-41)|all_epithelial(116;3.96e-23)|all_lung(118;5.12e-09)|all_hematologic(16;5.45e-07)|Lung NSC(185;5.49e-07)|all_neural(13;3.21e-06)|Acute lymphoblastic leukemia(12;3.44e-05)|Breast(487;0.000601)|Renal(390;0.0007)|Colorectal(325;0.00113)|Hepatocellular(190;0.00213)|Glioma(11;0.00223)|Myeloproliferative disorder(586;0.0256)|Ovarian(437;0.04)|Lung SC(97;0.128)|Medulloblastoma(700;0.213)	1048					Q8IWC0	Missense_Mutation	SNP	ENST00000378156.4	37	c.3143C>T	CCDS44052.1	.	.	.	.	.	.	.	.	.	.	G	7.839	0.721475	0.15372	.	.	ENSG00000131697	ENST00000378156	T	0.71579	-0.58	5.38	3.46	0.39613	.	0.390921	0.24727	N	0.036100	T	0.57961	0.2089	L	0.51422	1.61	0.09310	N	1	P	0.34615	0.459	B	0.29353	0.101	T	0.53830	-0.8383	10	0.54805	T	0.06	.	5.5265	0.16960	0.0749:0.4001:0.3875:0.1375	.	1048	O75161	NPHP4_HUMAN	V	1048	ENSP00000367398:A1048V	ENSP00000367398:A1048V	A	-	2	0	NPHP4	5857206	0.001000	0.12720	0.989000	0.46669	0.023000	0.10783	0.302000	0.19192	0.610000	0.30035	-0.181000	0.13052	GCC		0.652	NPHP4-001	KNOWN	non_canonical_polymorphism|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001715.2			4	19	0	0	0	1	0	4	19					A	5934619	G	A	5934619	3	1	105	1	0	0	0	0	1	0	0	0	10581	1203	42	3	1173	3	NPHP4	1	5934619	Missense_Mutation	SNP	G	TCGA-EJ-7797-01A-11D-2260-08		5934619	243316002	1	5729											
CTNNBIP1	56998	broad.mit.edu	37	chr1	9931303	9931303	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgttgaccacccctgcataGgtgcgcaggaactcctcctc	7	9	9	16	1	0	1	0	1	0	0	3	2	2	2	5	2	3	3	5	2	2	2			TCGA-EJ-7797-01A-11D-2260-08	TCGA-EJ-7797-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4637e5f8-e2cb-48ac-8f87-ef89e3c37574	c5de444a-73e7-4ab5-a966-7865d0d139ec	g.chr1:9931303G>A	ENST00000377263.1	-	5	440	c.129C>T	c.(127-129)acC>acT	p.T43T	CTNNBIP1_ENST00000400904.3_Silent_p.T43T|CTNNBIP1_ENST00000537447.1_Silent_p.T43T|CTNNBIP1_ENST00000377258.1_Silent_p.T43T|CTNNBIP1_ENST00000377256.1_Silent_p.T43T	NM_001012329.1|NM_020248.2	NP_001012329.1|NP_064633.1	Q9NSA3	CNBP1_HUMAN	catenin, beta interacting protein 1	43					anterior/posterior pattern specification (GO:0009952)|branching involved in ureteric bud morphogenesis (GO:0001658)|negative regulation of DNA binding (GO:0043392)|negative regulation of mesenchymal cell proliferation (GO:0072201)|negative regulation of protein binding (GO:0032091)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smooth muscle cell proliferation (GO:0048662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription initiation from RNA polymerase II promoter (GO:0060633)|negative regulation of Wnt signaling pathway (GO:0030178)|positive regulation of monocyte differentiation (GO:0045657)|positive regulation of osteoblast differentiation (GO:0045669)|regulation of vascular permeability involved in acute inflammatory response (GO:0002528)|Wnt signaling pathway (GO:0016055)	beta-catenin destruction complex (GO:0030877)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	armadillo repeat domain binding (GO:0070016)|beta-catenin binding (GO:0008013)			cervix(1)|large_intestine(1)|lung(1)	3		all_lung(284;1.82e-05)|Lung NSC(185;3.08e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|Colorectal(212;7.32e-08)|COAD - Colon adenocarcinoma(227;1.73e-05)|Kidney(185;4.89e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000912)|KIRC - Kidney renal clear cell carcinoma(229;0.00112)|STAD - Stomach adenocarcinoma(132;0.00644)|READ - Rectum adenocarcinoma(331;0.0419)		CCCCTGCATAGGTGCGCAGGA	0.647																																						ENST00000377263.1																			0				cervix(1)|large_intestine(1)|lung(1)	3						c.(127-129)acC>acT		catenin, beta interacting protein 1							70	53	59					1																	9931303		2200	4295	6495	SO:0001819	synonymous_variant	56998				anterior/posterior pattern formation|branching involved in ureteric bud morphogenesis|negative regulation of mesenchymal cell proliferation|negative regulation of protein binding|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of smooth muscle cell proliferation|negative regulation of transcription initiation from RNA polymerase II promoter|negative regulation of Wnt receptor signaling pathway|positive regulation of monocyte differentiation|positive regulation of osteoblast differentiation|regulation of vascular permeability involved in acute inflammatory response|Wnt receptor signaling pathway	Axin-APC-beta-catenin-GSK3B complex|cytosol|nucleus	armadillo repeat domain binding|beta-catenin binding	g.chr1:9931303G>A	AB021262	CCDS106.1	1p36.22	2013-09-19	2001-11-29		ENSG00000178585	ENSG00000178585			16913	protein-coding gene	gene with protein product	"beta-catenin-interacting protein ICAT", "inhibitor of beta-catenin and Tcf-4"	607758	"catenin, beta-interacting protein 1"			10898789	Standard	XM_006710779		Approved	ICAT, MGC15093	uc001aql.1	Q9NSA3	OTTHUMG00000001796	ENST00000377263.1:c.129C>T	1.37:g.9931303G>A						CTNNBIP1_ENST00000400904.3_Silent_p.T43T|CTNNBIP1_ENST00000537447.1_Silent_p.T43T|CTNNBIP1_ENST00000377258.1_Silent_p.T43T|CTNNBIP1_ENST00000377256.1_Silent_p.T43T	p.T43T	NM_001012329.1|NM_020248.2	NP_001012329.1|NP_064633.1	Q9NSA3	CNBP1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|Colorectal(212;7.32e-08)|COAD - Colon adenocarcinoma(227;1.73e-05)|Kidney(185;4.89e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000912)|KIRC - Kidney renal clear cell carcinoma(229;0.00112)|STAD - Stomach adenocarcinoma(132;0.00644)|READ - Rectum adenocarcinoma(331;0.0419)	5	440	-		all_lung(284;1.82e-05)|Lung NSC(185;3.08e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)	43					Q5T4V2	Silent	SNP	ENST00000377263.1	37	c.129C>T	CCDS106.1																																																																																				0.647	CTNNBIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005012.1	NM_020248		2	8	0	0	0	1	0	2	8					A	9931303	G	A	9931303	2	1	105	1	0	0	0	0	0	0	0	1	4017	987	35	3		3	CTNNBIP1	1	9931303	Silent	SNP	G	TCGA-EJ-7797-01A-11D-2260-08	3996684	9931303	239319318	2	5730											
SERBP1	26135	broad.mit.edu	37	chr1	67895763	67895763	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ggttcttgcggtctttctggGactccttgcgcagctgtttg	2	16	13	10	2	3	0	0	0	3	0	4	1	4	1	1	3	3	4	1	3	0	5			TCGA-EJ-7797-01A-11D-2260-08	TCGA-EJ-7797-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4637e5f8-e2cb-48ac-8f87-ef89e3c37574	c5de444a-73e7-4ab5-a966-7865d0d139ec	g.chr1:67895763G>A	ENST00000370995.2	-	1	306	c.221C>T	c.(220-222)tCc>tTc	p.S74F	SERBP1_ENST00000361219.6_Missense_Mutation_p.S74F|SERBP1_ENST00000370990.5_Missense_Mutation_p.S74F|SERBP1_ENST00000370994.4_Missense_Mutation_p.S74F			Q8NC51	PAIRB_HUMAN	SERPINE1 mRNA binding protein 1	74					regulation of apoptotic process (GO:0042981)|regulation of mRNA stability (GO:0043488)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	mRNA 3'-UTR binding (GO:0003730)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(2)|large_intestine(3)|lung(4)|skin(1)|upper_aerodigestive_tract(2)	13						GTCTTTCTGGGACTCCTTGCG	0.667																																						ENST00000370994.4																			0				breast(1)|endometrium(2)|large_intestine(3)|lung(4)|skin(1)|upper_aerodigestive_tract(2)	13						c.(220-222)tCc>tTc		SERPINE1 mRNA binding protein 1							42	52	48					1																	67895763		2196	4285	6481	SO:0001583	missense	26135				regulation of mRNA stability	nucleus|perinuclear region of cytoplasm	mRNA 3'-UTR binding|protein binding	g.chr1:67895763G>A	AF151813	CCDS639.1, CCDS30746.1, CCDS30747.1, CCDS30748.1	1p31	2009-12-17			ENSG00000142864	ENSG00000142864			17860	protein-coding gene	gene with protein product		607378				11001948, 10810093, 18440126, 17698176	Standard	NM_001018067		Approved	PAI-RBP1, DKFZP564M2423, CGI-55, HABP4L, PAIRBP1, CHD3IP	uc001ddv.3	Q8NC51	OTTHUMG00000009372	ENST00000370995.2:c.221C>T	1.37:g.67895763G>A	ENSP00000360034:p.Ser74Phe					SERBP1_ENST00000361219.6_Missense_Mutation_p.S74F|SERBP1_ENST00000370995.2_Missense_Mutation_p.S74F|SERBP1_ENST00000370990.5_Missense_Mutation_p.S74F	p.S74F	NM_001018067.1|NM_001018068.1|NM_001018069.1|NM_015640.3	NP_001018077.1|NP_001018078.1|NP_001018079.1|NP_056455.3	Q8NC51	PAIRB_HUMAN			1	335	-			74					Q5VU19|Q5VU20|Q5VU22|Q8WUH0|Q96SE2|Q9BTY3|Q9BUM4|Q9Y367|Q9Y4S3	Missense_Mutation	SNP	ENST00000370995.2	37	c.221C>T	CCDS30746.1	.	.	.	.	.	.	.	.	.	.	G	34	5.306183	0.95629	.	.	ENSG00000142864	ENST00000370994;ENST00000370995;ENST00000361219;ENST00000370990	.	.	.	4.99	4.99	0.66335	.	0.056851	0.64402	D	0.000001	T	0.80854	0.4703	M	0.83603	2.65	0.80722	D	1	P;D;D;D	0.89917	0.917;0.999;1.0;1.0	B;D;D;D	0.87578	0.445;0.996;0.998;0.998	D	0.83680	0.0171	9	0.72032	D	0.01	0.9581	17.4097	0.87482	0.0:0.0:1.0:0.0	.	137;137;74;74	D3DQ69;D3DQ70;Q8NC51-3;Q8NC51	.;.;.;PAIRB_HUMAN	F	74	.	ENSP00000354591:S74F	S	-	2	0	SERBP1	67668351	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	8.969000	0.93411	2.471000	0.83476	0.462000	0.41574	TCC		0.667	SERBP1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000025984.2	NM_001018067		14	86	0	0	0	1	0	14	86					A	67895763	G	A	67895763	3	1	105	1	0	0	0	0	1	0	0	0	14075	1174	41	3	1037	3	SERBP1	1	67895763	Missense_Mutation	SNP	G	TCGA-EJ-7797-01A-11D-2260-08	57964460	67895763	181354858	3	5731											
ABCA4	24	broad.mit.edu	37	chr1	94526101	94526101	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	catttggcttaccatgatgaAtatcgtcaggaggaagatgc	12	11	11	7	1	1	3	1	2	0	1	2	5	1	5	1	3	2	1	1	3	4	3			TCGA-EJ-7797-01A-11D-2260-08	TCGA-EJ-7797-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4637e5f8-e2cb-48ac-8f87-ef89e3c37574	c5de444a-73e7-4ab5-a966-7865d0d139ec	g.chr1:94526101A>G	ENST00000370225.3	-	14	2238	c.2152T>C	c.(2152-2154)Ttc>Ctc	p.F718L	ABCA4_ENST00000535735.1_Missense_Mutation_p.F718L	NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	718					phospholipid transfer to membrane (GO:0006649)|photoreceptor cell maintenance (GO:0045494)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|photoreceptor disc membrane (GO:0097381)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|phospholipid-translocating ATPase activity (GO:0004012)|transporter activity (GO:0005215)			NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		ACCATGATGAATATCGTCAGG	0.468																																						ENST00000370225.3																			0				NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147						c.(2152-2154)Ttc>Ctc		ATP-binding cassette, sub-family A (ABC1), member 4							111	104	106					1																	94526101		2203	4300	6503	SO:0001583	missense	24				phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr1:94526101A>G	U88667	CCDS747.1	1p22	2013-01-23			ENSG00000198691	ENSG00000198691		"ATP binding cassette transporters / subfamily A"	34	protein-coding gene	gene with protein product	"Stargardt disease"	601691	"ATP-binding cassette transporter, retinal-specific"	STGD1, ABCR, RP19, STGD		9490294	Standard	NM_000350		Approved	FFM, ARMD2, CORD3	uc001dqh.3	P78363	OTTHUMG00000010622	ENST00000370225.3:c.2152T>C	1.37:g.94526101A>G	ENSP00000359245:p.Phe718Leu					ABCA4_ENST00000535735.1_Missense_Mutation_p.F718L	p.F718L	NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)	14	2238	-		all_lung(203;0.000757)|Lung NSC(277;0.00335)	718					O15112|O60438|O60915|Q0QD48|Q4LE31	Missense_Mutation	SNP	ENST00000370225.3	37	c.2152T>C	CCDS747.1	.	.	.	.	.	.	.	.	.	.	A	14.29	2.492008	0.44352	.	.	ENSG00000198691	ENST00000370225;ENST00000535735	D;T	0.84589	-1.87;-0.64	5.9	4.78	0.61160	.	0.230008	0.45606	D	0.000348	T	0.43478	0.1249	N	0.01242	-0.935	0.42139	D	0.991502	B;B	0.09022	0.002;0.0	B;B	0.06405	0.002;0.002	T	0.53229	-0.8468	10	0.48119	T	0.1	.	3.6172	0.08082	0.628:0.2169:0.155:0.0	.	718;718	F5H6E5;P78363	.;ABCA4_HUMAN	L	718	ENSP00000359245:F718L;ENSP00000437682:F718L	ENSP00000359245:F718L	F	-	1	0	ABCA4	94298689	0.996000	0.38824	0.921000	0.36526	0.950000	0.60333	2.864000	0.48404	2.266000	0.75297	0.528000	0.53228	TTC		0.468	ABCA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029320.1	NM_000350		9	54	0	0	0	1	0	9	54					G	94526101	A	G	94526101	3	3	105	1	0	0	0	0	1	0	0	0	34	101	4	4	4817	4	ABCA4	1	94526101	Missense_Mutation	SNP	A	TCGA-EJ-7797-01A-11D-2260-08	26630338	94526101	154724520	4	5732											
ATP8B2	57198	broad.mit.edu	37	chr1	154309883	154309883	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	attggcaatgccatctgggaGcacgaggtggggatgcgttt	8	10	16	7	2	1	0	0	0	1	0	1	3	1	2	1	5	3	3	1	5	1	2			TCGA-EJ-7797-01A-11D-2260-08	TCGA-EJ-7797-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4637e5f8-e2cb-48ac-8f87-ef89e3c37574	c5de444a-73e7-4ab5-a966-7865d0d139ec	g.chr1:154309883G>A	ENST00000368489.3	+	12	996	c.996G>A	c.(994-996)gaG>gaA	p.E332E	RNU7-57P_ENST00000459540.1_RNA|ATP8B2_ENST00000368487.3_Silent_p.E299E|ATP8B2_ENST00000341822.2_Silent_p.E318E|ATP8B2_ENST00000426445.1_3'UTR	NM_020452.3	NP_065185.1	P98198	AT8B2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 2	318					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)		IL6R/ATP8B2(2)	breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			CCATCTGGGAGCACGAGGTGG	0.557																																						ENST00000368489.3																		IL6R/ATP8B2(2)	0				breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	51						c.(994-996)gaG>gaA		ATPase, aminophospholipid transporter, class I, type 8B, member 2							293	245	261					1																	154309883		2203	4300	6503	SO:0001819	synonymous_variant	57198				ATP biosynthetic process	plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr1:154309883G>A	AB032963	CCDS1066.1, CCDS41405.1	1q21.3	2012-03-09	2012-03-09		ENSG00000143515	ENSG00000143515		"ATPases / P-type"	13534	protein-coding gene	gene with protein product		605867	"ATPase, class I, type 8B, member 2"			10574461, 11015572	Standard	NM_020452		Approved	ATPID, KIAA1137	uc001fex.3	P98198	OTTHUMG00000035979	ENST00000368489.3:c.996G>A	1.37:g.154309883G>A						ATP8B2_ENST00000368487.3_Silent_p.E299E|ATP8B2_ENST00000426445.1_3'UTR|ATP8B2_ENST00000341822.2_Silent_p.E318E	p.E332E	NM_020452.3	NP_065185.1	P98198	AT8B2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.185)		12	996	+	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		318					B4E3P4|Q6NT69|Q7Z486|Q96I43|Q96NQ7	Silent	SNP	ENST00000368489.3	37	c.996G>A	CCDS1066.1																																																																																				0.557	ATP8B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087658.2	NM_020452		4	195	0	0	0	1	0	4	195					A	154309883	G	A	154309883	2	1	105	1	0	0	0	0	0	0	0	1	1195	962	34	3		3	ATP8B2	1	154309883	Silent	SNP	G	TCGA-EJ-7797-01A-11D-2260-08	59783782	154309883	94940738	5	5733											
OR10J1	26476	broad.mit.edu	37	chr1	159410278	159410278	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agattgcttcagttgagggcCggaagaaggcttttgccacc	9	10	13	9	1	1	3	1	1	0	2	1	4	1	4	3	3	2	3	3	3	2	5			TCGA-EJ-7797-01A-11D-2260-08	TCGA-EJ-7797-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4637e5f8-e2cb-48ac-8f87-ef89e3c37574	c5de444a-73e7-4ab5-a966-7865d0d139ec	g.chr1:159410278C>T	ENST00000423932.3	+	1	767	c.730C>T	c.(730-732)Cgg>Tgg	p.R244W	RP11-550P17.5_ENST00000431862.1_RNA	NM_012351.2	NP_036483.2	P30954	O10J1_HUMAN	olfactory receptor, family 10, subfamily J, member 1	244					G-protein coupled receptor signaling pathway (GO:0007186)|sensory perception of chemical stimulus (GO:0007606)|single fertilization (GO:0007338)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|stomach(1)	25	all_hematologic(112;0.0429)					AGTTGAGGGCCGGAAGAAGGC	0.478																																						ENST00000423932.3																			0				endometrium(2)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|stomach(1)	25						c.(730-732)Cgg>Tgg		olfactory receptor, family 10, subfamily J, member 1							190	177	181					1																	159410278		2203	4300	6503	SO:0001583	missense	26476				sensory perception of smell|single fertilization	integral to plasma membrane	olfactory receptor activity	g.chr1:159410278C>T	X64995	CCDS1185.1	1q23.2	2012-08-09			ENSG00000196184	ENSG00000196184		"GPCR / Class A : Olfactory receptors"	8175	protein-coding gene	gene with protein product						1370859	Standard	NM_012351		Approved	HGMP07J, HSHGMP07J	uc010piv.2	P30954	OTTHUMG00000022737	ENST00000423932.3:c.730C>T	1.37:g.159410278C>T	ENSP00000399078:p.Arg244Trp					RP11-550P17.5_ENST00000431862.1_RNA	p.R244W	NM_012351.2	NP_036483.2	P30954	O10J1_HUMAN			1	767	+	all_hematologic(112;0.0429)		244					Q2M1M8|Q5VSV1|Q6IET5|Q96R56	Missense_Mutation	SNP	ENST00000423932.3	37	c.730C>T	CCDS1185.1	.	.	.	.	.	.	.	.	.	.	C	9.011	0.982462	0.18889	.	.	ENSG00000196184	ENST00000423932	T	0.00335	8.06	3.73	-2.72	0.05968	GPCR, rhodopsin-like superfamily (1);	0.202066	0.24202	N	0.040602	T	0.00109	0.0003	M	0.78223	2.4	0.19945	N	0.999941	B	0.26258	0.145	B	0.26693	0.072	T	0.40608	-0.9554	10	0.66056	D	0.02	.	8.291	0.31958	0.6964:0.2136:0.0:0.09	.	244	P30954	O10J1_HUMAN	W	244	ENSP00000399078:R244W	ENSP00000399078:R244W	R	+	1	2	OR10J1	157676902	0.000000	0.05858	0.043000	0.18650	0.721000	0.41392	-2.320000	0.01119	-0.724000	0.04908	-0.284000	0.09977	CGG		0.478	OR10J1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059020.1	NM_012351		7	57	0	0	0	1	0	7	57					T	159410278	C	T	159410278	3	4	105	1	0	0	0	0	1	0	0	0	10910	643	23	2	732	2	OR10J1	1	159410278	Missense_Mutation	SNP	C	TCGA-EJ-7797-01A-11D-2260-08	5100395	159410278	89840343	6	5734											
PRKD3	23683	broad.mit.edu	37	chr2	37516516	37516516	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacctcttcactgggaagggCtacatattcaggctgtaggg	9	11	12	9	0	3	0	2	0	1	0	3	1	3	1	1	4	2	3	1	4	5	6			TCGA-EJ-7797-01A-11D-2260-08	TCGA-EJ-7797-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4637e5f8-e2cb-48ac-8f87-ef89e3c37574	c5de444a-73e7-4ab5-a966-7865d0d139ec	g.chr2:37516516C>A	ENST00000379066.1	-	5	1462	c.700G>T	c.(700-702)Gcc>Tcc	p.A234S	PRKD3_ENST00000234179.2_Missense_Mutation_p.A234S			O94806	KPCD3_HUMAN	protein kinase D3	234					intracellular signal transduction (GO:0035556)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase C activity (GO:0004697)			breast(3)|central_nervous_system(2)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33		all_hematologic(82;0.21)				CTGGGAAGGGCTACATATTCA	0.418																																					Melanoma(80;621 1355 8613 11814 51767)	ENST00000379066.1																			0				breast(3)|central_nervous_system(2)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33						c.(700-702)Gcc>Tcc		protein kinase D3							105	100	102					2																	37516516		2203	4300	6503	SO:0001583	missense	23683				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction	cytoplasm|membrane|nucleus	ATP binding|metal ion binding|protein binding|protein kinase C activity	g.chr2:37516516C>A	AB015982	CCDS1789.1	2p21	2013-01-10	2004-10-28	2004-10-30	ENSG00000115825	ENSG00000115825		"Pleckstrin homology (PH) domain containing"	9408	protein-coding gene	gene with protein product		607077	"protein kinase C, nu"	PRKCN		10231560	Standard	NM_005813		Approved	EPK2	uc002rqd.3	O94806	OTTHUMG00000100961	ENST00000379066.1:c.700G>T	2.37:g.37516516C>A	ENSP00000368356:p.Ala234Ser					PRKD3_ENST00000234179.2_Missense_Mutation_p.A234S	p.A234S			O94806	KPCD3_HUMAN			5	1462	-		all_hematologic(82;0.21)	234					D6W587|Q53TR7|Q8NEL8	Missense_Mutation	SNP	ENST00000379066.1	37	c.700G>T	CCDS1789.1	.	.	.	.	.	.	.	.	.	.	C	0.721	-0.783505	0.02907	.	.	ENSG00000115825	ENST00000379066;ENST00000234179;ENST00000443187	T;T;D	0.84730	-0.06;-0.06;-1.89	5.45	1.38	0.22167	.	0.814846	0.11169	N	0.592238	T	0.52980	0.1768	N	0.00841	-1.15	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.06405	0.001;0.002	T	0.51004	-0.8760	10	0.02654	T	1	-0.4622	4.472	0.11717	0.1138:0.2295:0.502:0.1547	.	234;234	O94806-2;O94806	.;KPCD3_HUMAN	S	234;234;130	ENSP00000368356:A234S;ENSP00000234179:A234S;ENSP00000401839:A130S	ENSP00000234179:A234S	A	-	1	0	PRKD3	37370020	0.000000	0.05858	0.137000	0.22149	0.951000	0.60555	-0.770000	0.04705	-0.078000	0.12730	0.655000	0.94253	GCC		0.418	PRKD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218570.3	NM_005813		3	68	1	0	1	1	1	3	68					A	37516516	C	A	37516516	3	1	105	1	0	0	0	0	1	0	0	0	12520	797	28	5	2032	5	PRKD3	2	37516516	Missense_Mutation	SNP	C	TCGA-EJ-7797-01A-11D-2260-08		37516516	205682857	7	5735											
DHX57	90957	broad.mit.edu	37	chr2	39053767	39053767	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cttagttactcctgcaggagGttttacaaacacagcctgct	10	12	8	11	0	0	0	0	0	0	0	1	1	1	1	2	2	6	4	2	2	4	4			TCGA-EJ-7797-01A-11D-2260-08	TCGA-EJ-7797-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4637e5f8-e2cb-48ac-8f87-ef89e3c37574	c5de444a-73e7-4ab5-a966-7865d0d139ec	g.chr2:39053767G>C	ENST00000295373.6	-	15	2830	c.2704C>G	c.(2704-2706)Cct>Gct	p.P902A		NM_198963.1	NP_945314.1	Q6P158	DHX57_HUMAN	DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57	902	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.						ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(20)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	62		all_hematologic(82;0.248)				CCTGCAGGAGGTTTTACAAAC	0.383																																					Melanoma(191;1090 2095 4375 23729 47341)	ENST00000295373.6																			0				NS(2)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(20)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						c.(2704-2706)Cct>Gct		DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57							101	93	96					2																	39053767		2203	4300	6503	SO:0001583	missense	90957						ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding|zinc ion binding	g.chr2:39053767G>C	AF070590	CCDS1800.1	2p22.3	2008-02-05			ENSG00000163214	ENSG00000163214		"DEAH-boxes"	20086	protein-coding gene	gene with protein product							Standard	NM_198963		Approved	DDX57	uc002rrf.3	Q6P158	OTTHUMG00000102103	ENST00000295373.6:c.2704C>G	2.37:g.39053767G>C	ENSP00000295373:p.Pro902Ala						p.P902A	NM_198963.1	NP_945314.1	Q6P158	DHX57_HUMAN			15	2830	-		all_hematologic(82;0.248)	902			Helicase C-terminal.		A2RRC7|Q53SI4|Q6P9G1|Q7Z6H3|Q8NG17|Q96M33	Missense_Mutation	SNP	ENST00000295373.6	37	c.2704C>G	CCDS1800.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.98|11.98	1.800392|1.800392	0.31869|0.31869	.|.	.|.	ENSG00000163214|ENSG00000163214	ENST00000295373|ENST00000452978	T|.	0.74632|.	-0.86|.	5.38|5.38	3.51|3.51	0.40186|0.40186	Helicase, C-terminal (3);|.	0.000000|.	0.50627|.	D|.	0.000103|.	T|T	0.54111|0.54111	0.1838|0.1838	L|L	0.38649|0.38649	1.16|1.16	0.52099|0.52099	D|D	0.999942|0.999942	D;D;P|.	0.89917|.	0.994;1.0;0.84|.	D;D;P|.	0.78314|.	0.98;0.991;0.557|.	T|T	0.44742|0.44742	-0.9308|-0.9308	10|5	0.20519|.	T|.	0.43|.	.|.	12.1624|12.1624	0.54110|0.54110	0.0:0.1304:0.7339:0.1357|0.0:0.1304:0.7339:0.1357	.|.	902;902;294|.	Q6P158;B4DKW2;Q59G60|.	DHX57_HUMAN;.;.|.	A|S	902|225	ENSP00000295373:P902A|.	ENSP00000295373:P902A|.	P|T	-|-	1|2	0|0	DHX57|DHX57	38907271|38907271	1.000000|1.000000	0.71417|0.71417	0.984000|0.984000	0.44739|0.44739	0.735000|0.735000	0.41995|0.41995	7.744000|7.744000	0.85034|0.85034	0.586000|0.586000	0.29626|0.29626	0.563000|0.563000	0.77884|0.77884	CCT|ACC		0.383	DHX57-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219940.2	NM_145646		3	55	0	0	0	1	0	3	55					C	39053767	G	C	39053767	3	2	105	1	0	0	0	0	1	0	0	0	4513	1261	44	5	1496	5	DHX57	2	39053767	Missense_Mutation	SNP	G	TCGA-EJ-7797-01A-11D-2260-08	1537251	39053767	204145606	8	5736											
THNSL2	55258	broad.mit.edu	37	chr2	88484958	88484958	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcccccactcagcggtggccGtgaactaccattaccagcag	9	6	10	16	2	1	1	1	1	0	0	1	1	1	1	5	2	5	1	5	2	3	2	rs144146961	byFrequency	TCGA-EJ-7797-01A-11D-2260-08	TCGA-EJ-7797-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4637e5f8-e2cb-48ac-8f87-ef89e3c37574	c5de444a-73e7-4ab5-a966-7865d0d139ec	g.chr2:88484958G>A	ENST00000324166.5	+	7	2880	c.1189G>A	c.(1189-1191)Gtg>Atg	p.V397M	THNSL2_ENST00000449349.1_Intron|THNSL2_ENST00000402102.1_Intron|THNSL2_ENST00000358591.2_Missense_Mutation_p.V397M|THNSL2_ENST00000377254.3_Intron|THNSL2_ENST00000343544.4_Intron|THNSL2_ENST00000496844.1_Intron	NM_018271.4	NP_060741.3	Q86YJ6	THNS2_HUMAN	threonine synthase-like 2 (S. cerevisiae)	397					2-oxobutyrate biosynthetic process (GO:0046360)|dephosphorylation (GO:0016311)|serine family amino acid catabolic process (GO:0009071)	extracellular space (GO:0005615)	lyase activity (GO:0016829)|pyridoxal phosphate binding (GO:0030170)|serine binding (GO:0070905)			breast(4)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)	27						AGCGGTGGCCGTGAACTACCA	0.587													G|||	15	0.00299521	0	0	5008	,	,		15039	0.0149		0	False		,,,				2504	0					ENST00000324166.5																			0				breast(4)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)	27						c.(1189-1191)Gtg>Atg		threonine synthase-like 2 (S. cerevisiae)		G	MET/VAL	0,4406		0,0,2203	28	32	31		1189	5.8	1	2	dbSNP_134	31	2,8598	2.2+/-6.3	0,2,4298	yes	missense	THNSL2	NM_018271.4	21	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	probably-damaging	397/485	88484958	2,13004	2203	4300	6503	SO:0001583	missense	55258				threonine biosynthetic process		threonine synthase activity	g.chr2:88484958G>A		CCDS2002.2, CCDS58718.1, CCDS74539.1	2p11.2	2007-06-20			ENSG00000144115	ENSG00000144115			25602	protein-coding gene	gene with protein product		611261				17034760	Standard	NM_018271		Approved	FLJ10916	uc021vkr.1	Q86YJ6	OTTHUMG00000130314	ENST00000324166.5:c.1189G>A	2.37:g.88484958G>A	ENSP00000327323:p.Val397Met					THNSL2_ENST00000496844.1_Intron|THNSL2_ENST00000358591.2_Missense_Mutation_p.V397M|THNSL2_ENST00000377254.3_Intron|THNSL2_ENST00000402102.1_Intron|THNSL2_ENST00000449349.1_Intron|THNSL2_ENST00000343544.4_Intron	p.V397M	NM_018271.4	NP_060741.3	Q86YJ6	THNS2_HUMAN			7	2880	+			397					B3KTB1|B5MDX8|B7WPF8|D9ZZB8|Q6P2M7|Q6PI27|Q9NV54	Missense_Mutation	SNP	ENST00000324166.5	37	c.1189G>A	CCDS2002.2	8	0.003663003663003663	0	0.0	0	0.0	8	0.013986013986013986	0	0.0	G	29.8	5.036978	0.93630	0.0	2.33E-4	ENSG00000144115	ENST00000358591;ENST00000324166	D;D	0.97114	-4.25;-4.25	5.8	5.8	0.92144	Threonine synthase (1);Pyridoxal phosphate-dependent enzyme, beta subunit (2);	0.194962	0.42548	D	0.000698	D	0.97739	0.9258	M	0.77103	2.36	0.80722	D	1	D	0.89917	1.0	D	0.75020	0.985	D	0.96246	0.9179	10	0.72032	D	0.01	.	19.0512	0.93046	0.0:0.0:1.0:0.0	.	397	Q86YJ6	THNS2_HUMAN	M	397	ENSP00000351402:V397M;ENSP00000327323:V397M	ENSP00000327323:V397M	V	+	1	0	THNSL2	88266073	1.000000	0.71417	0.971000	0.41717	0.923000	0.55619	6.508000	0.73721	2.741000	0.93983	0.650000	0.86243	GTG		0.587	THNSL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252662.1	NM_018271		3	19	0	0	0	1	0	3	19					A	88484958	G	A	88484958	3	1	105	1	0	0	0	0	1	0	0	0	15860	1145	40	1	1215	1	THNSL2	2	88484958	Missense_Mutation	SNP	G	TCGA-EJ-7797-01A-11D-2260-08	49431191	88484958	154714415	9	5737											
TTN	7273	broad.mit.edu	37	chr2	179592402	179592402	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtcttagaagcatccactgAgtagagatttaagaagctag	15	10	10	6	0	1	4	0	1	1	3	2	5	2	4	1	0	2	3	1	0	6	5			TCGA-EJ-7797-01A-11D-2260-08	TCGA-EJ-7797-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4637e5f8-e2cb-48ac-8f87-ef89e3c37574	c5de444a-73e7-4ab5-a966-7865d0d139ec	g.chr2:179592402A>C	ENST00000591111.1	-	66	19176	c.18952T>G	c.(18952-18954)Tca>Gca	p.S6318A	TTN_ENST00000589042.1_Missense_Mutation_p.S6635A|TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|RP11-171I2.1_ENST00000590024.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.S5391A			Q8WZ42	TITIN_HUMAN	titin	13094	Ig-like 44.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GCATCCACTGAGTAGAGATTT	0.403																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(19903-19905)Tca>Gca		titin							194	198	197					2																	179592402		1989	4182	6171	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179592402A>C	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.18952T>G	2.37:g.179592402A>C	ENSP00000465570:p.Ser6318Ala					TTN_ENST00000591111.1_Missense_Mutation_p.S6318A|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.S5391A|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron	p.S6635A	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		68	20127	-			6318			Ig-like 48.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.19903T>G		.	.	.	.	.	.	.	.	.	.	A	9.914	1.210312	0.22289	.	.	ENSG00000155657	ENST00000342992	T	0.44083	0.93	5.99	4.81	0.61882	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.30324	0.0761	N	0.21583	0.68	0.80722	D	1	B	0.15473	0.013	B	0.16722	0.016	T	0.07751	-1.0756	9	0.87932	D	0	.	10.4442	0.44483	0.7397:0.0:0.0:0.2603	.	6318	Q8WZ42	TITIN_HUMAN	A	5391	ENSP00000343764:S5391A	ENSP00000343764:S5391A	S	-	1	0	TTN	179300647	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.710000	0.61873	1.048000	0.40298	0.533000	0.62120	TCA		0.403	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		13	220	0	0	0	1	0	13	220					C	179592402	A	C	179592402	3	2	105	1	0	0	0	0	1	0	0	0	16732	304	11	5	84806	5	TTN	2	179592402	Missense_Mutation	SNP	A	TCGA-EJ-7797-01A-11D-2260-08	91107444	179592402	63606971	10	5738											
PLCL1	5334	broad.mit.edu	37	chr2	198950517	198950517	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agagatacacggaattccagCggattgttcggaacaaagaa	16	7	11	7	3	0	2	0	0	0	2	2	6	1	5	1	3	3	1	1	3	5	4	rs201009322		TCGA-EJ-7797-01A-11D-2260-08	TCGA-EJ-7797-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4637e5f8-e2cb-48ac-8f87-ef89e3c37574	c5de444a-73e7-4ab5-a966-7865d0d139ec	g.chr2:198950517C>T	ENST00000428675.1	+	2	2674	c.2276C>T	c.(2275-2277)gCg>gTg	p.A759V	PLCL1_ENST00000437704.2_Missense_Mutation_p.A661V	NM_006226.3	NP_006217.3	Q15111	PLCL1_HUMAN	phospholipase C-like 1	759	C2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				gamma-aminobutyric acid signaling pathway (GO:0007214)|intracellular signal transduction (GO:0035556)|lipid metabolic process (GO:0006629)|positive regulation of receptor binding (GO:1900122)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of synaptic transmission, GABAergic (GO:0032228)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|inositol 1,4,5 trisphosphate binding (GO:0070679)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	80					Quinacrine(DB01103)	GGAATTCCAGCGGATTGTTCG	0.418																																						ENST00000428675.1																			0				autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	80						c.(2275-2277)gCg>gTg		phospholipase C-like 1	Quinacrine(DB01103)	C	VAL/ALA	0,4406		0,0,2203	79	76	77		2276	5.4	1	2		77	2,8598	2.2+/-6.3	0,2,4298	yes	missense	PLCL1	NM_006226.3	64	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	benign	759/1096	198950517	2,13004	2203	4300	6503	SO:0001583	missense	5334				intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr2:198950517C>T	D42108	CCDS2326.1, CCDS2326.2	2q33	2014-06-13	2002-02-18	2002-02-22	ENSG00000115896	ENSG00000115896			9063	protein-coding gene	gene with protein product	"phospholipase C related, but catalytically inactive protein", "protein phosphatase 1, regulatory subunit 127"	600597	"phospholipase C, epsilon"	PLCE		7633416	Standard	NM_006226		Approved	PLC-L, PLCL, PRIP, PPP1R127	uc010fsp.3	Q15111	OTTHUMG00000132750	ENST00000428675.1:c.2276C>T	2.37:g.198950517C>T	ENSP00000402861:p.Ala759Val					PLCL1_ENST00000437704.2_Missense_Mutation_p.A661V	p.A759V	NM_006226.3	NP_006217.3	Q15111	PLCL1_HUMAN			2	2674	+			759			C2.		Q3MJ90|Q53SD3|Q7Z3S3	Missense_Mutation	SNP	ENST00000428675.1	37	c.2276C>T	CCDS2326.2	.	.	.	.	.	.	.	.	.	.	C	19.77	3.889785	0.72524	0.0	2.33E-4	ENSG00000115896	ENST00000428675;ENST00000437704	T;T	0.67698	-0.28;-0.28	5.36	5.36	0.76844	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.188096	0.37809	N	0.001936	T	0.70237	0.3201	L	0.43152	1.355	0.80722	D	1	D;D	0.54964	0.969;0.969	P;P	0.52189	0.642;0.692	T	0.67245	-0.5719	9	.	.	.	.	19.2914	0.94102	0.0:1.0:0.0:0.0	.	759;685	Q15111;B4DYZ4	PLCL1_HUMAN;.	V	759;661	ENSP00000402861:A759V;ENSP00000414138:A661V	.	A	+	2	0	PLCL1	198658762	1.000000	0.71417	0.964000	0.40570	0.982000	0.71751	7.641000	0.83368	2.793000	0.96121	0.561000	0.74099	GCG		0.418	PLCL1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340210.1	NM_006226		10	52	0	0	0	1	0	10	52					T	198950517	C	T	198950517	3	4	105	1	0	0	0	0	1	0	0	0	12039	768	27	1	2282	1	PLCL1	2	198950517	Missense_Mutation	SNP	C	TCGA-EJ-7797-01A-11D-2260-08	19358115	198950517	44248856	11	5739											
WNT6	7475	broad.mit.edu	37	chr2	219735816	219735816	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggcacggcggctggccgggCggcaggccgagttgtgccag	5	4	20	12	5	0	0	0	0	0	0	0	1	0	0	3	7	1	4	3	7	0	1			TCGA-EJ-7797-01A-11D-2260-08	TCGA-EJ-7797-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4637e5f8-e2cb-48ac-8f87-ef89e3c37574	c5de444a-73e7-4ab5-a966-7865d0d139ec	g.chr2:219735816C>T	ENST00000233948.3	+	2	365	c.148C>T	c.(148-150)Cgg>Tgg	p.R50W	WNT6_ENST00000486233.1_Intron	NM_006522.3	NP_006513.1	Q9Y6F9	WNT6_HUMAN	wingless-type MMTV integration site family, member 6	50					axis specification (GO:0009798)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell fate commitment (GO:0045165)|cellular response to retinoic acid (GO:0071300)|cornea development in camera-type eye (GO:0061303)|epithelial-mesenchymal cell signaling (GO:0060684)|nephron tubule formation (GO:0072079)|neuron differentiation (GO:0030182)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of gene expression (GO:0010628)|positive regulation of tooth mineralization (GO:0070172)|positive regulation of transcription, DNA-templated (GO:0045893)|Wnt signaling pathway (GO:0016055)	cell surface (GO:0009986)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)			large_intestine(1)|ovary(2)|skin(1)	4		Renal(207;0.0474)		Epithelial(149;4.53e-07)|all cancers(144;9.3e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GCTGGCCGGGCGGCAGGCCGA	0.667																																						ENST00000233948.3																			0				large_intestine(1)|ovary(2)|skin(1)	4						c.(148-150)Cgg>Tgg		wingless-type MMTV integration site family, member 6							49	59	56					2																	219735816		2201	4297	6498	SO:0001583	missense	7475				anterior/posterior pattern formation|axis specification|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|cornea development in camera-type eye|neuron differentiation|odontogenesis of dentine-containing tooth|positive regulation of gene expression|positive regulation of tooth mineralization|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	G-protein-coupled receptor binding|signal transducer activity	g.chr2:219735816C>T	AF079522	CCDS2425.1	2q35	2008-05-23			ENSG00000115596	ENSG00000115596		"Wingless-type MMTV integration sites"	12785	protein-coding gene	gene with protein product		604663				10343101, 11350055	Standard	NM_006522		Approved		uc002vjc.1	Q9Y6F9	OTTHUMG00000133082	ENST00000233948.3:c.148C>T	2.37:g.219735816C>T	ENSP00000233948:p.Arg50Trp					WNT6_ENST00000486233.1_Intron	p.R50W	NM_006522.3	NP_006513.1	Q9Y6F9	WNT6_HUMAN		Epithelial(149;4.53e-07)|all cancers(144;9.3e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	2	365	+		Renal(207;0.0474)	50					Q9H1J6|Q9H238	Missense_Mutation	SNP	ENST00000233948.3	37	c.148C>T	CCDS2425.1	.	.	.	.	.	.	.	.	.	.	c	16.67	3.186601	0.57909	.	.	ENSG00000115596	ENST00000233948	T	0.77229	-1.08	5.17	-0.358	0.12575	.	0.113008	0.56097	D	0.000022	T	0.75496	0.3857	M	0.84082	2.675	0.29915	N	0.823267	B	0.06786	0.001	B	0.01281	0.0	T	0.69304	-0.5180	10	0.59425	D	0.04	.	10.3123	0.43716	0.5834:0.3449:0.0:0.0717	.	50	Q9Y6F9	WNT6_HUMAN	W	50	ENSP00000233948:R50W	ENSP00000233948:R50W	R	+	1	2	WNT6	219444060	0.284000	0.24287	0.540000	0.28089	0.764000	0.43329	0.942000	0.29017	-0.323000	0.08602	-2.694000	0.00139	CGG		0.667	WNT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256727.2	NM_006522		6	123	0	0	0	1	0	6	123					T	219735816	C	T	219735816	3	4	105	1	0	0	0	0	1	0	0	0	17390	759	27	1	154	1	WNT6	2	219735816	Missense_Mutation	SNP	C	TCGA-EJ-7797-01A-11D-2260-08	20785299	219735816	23463557	12	5740											
CNOT10	25904	broad.mit.edu	37	chr3	32800949	32800949	+	Splice_Site	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cccttcccttttgtgttataGgtgctccatacttgcttgca	5	17	7	12	0	0	0	0	0	0	0	2	0	2	0	3	1	4	4	3	1	3	8			TCGA-EJ-7797-01A-11D-2260-08	TCGA-EJ-7797-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4637e5f8-e2cb-48ac-8f87-ef89e3c37574	c5de444a-73e7-4ab5-a966-7865d0d139ec	g.chr3:32800949G>C	ENST00000328834.5	+	14	1911		c.e14-1		CNOT10_ENST00000331889.6_Splice_Site|CNOT10_ENST00000454516.2_Splice_Site|CNOT10_ENST00000538368.1_Splice_Site	NM_015442.2	NP_056257.1	Q9H9A5	CNO10_HUMAN	CCR4-NOT transcription complex, subunit 10						gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|transcription, DNA-templated (GO:0006351)	CCR4-NOT complex (GO:0030014)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(3)	23						TTGTGTTATAGGTGCTCCATA	0.428																																						ENST00000328834.5																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(3)	23						c.e14-1		CCR4-NOT transcription complex, subunit 10							411	411	411					3																	32800949		2203	4300	6503	SO:0001630	splice_region_variant	25904				nuclear-transcribed mRNA poly(A) tail shortening	cytosol	protein binding	g.chr3:32800949G>C	BC002928	CCDS2655.1, CCDS58821.1, CCDS58822.1	3p23	2013-01-10			ENSG00000182973	ENSG00000182973		"Tetratricopeptide (TTC) repeat domain containing"	23817	protein-coding gene	gene with protein product							Standard	NR_046352		Approved	FLJ12890, FLJ13165	uc011axj.2	Q9H9A5	OTTHUMG00000130748	ENST00000328834.5:c.1596-1G>C	3.37:g.32800949G>C						CNOT10_ENST00000454516.2_Splice_Site|CNOT10_ENST00000538368.1_Splice_Site|CNOT10_ENST00000331889.6_Splice_Site		NM_015442.2	NP_056257.1	Q9H9A5	CNOTA_HUMAN			14	1911	+								B7Z7L1|F8WAF2|Q9BU30|Q9H5J7|Q9H8X1|Q9H9W0|Q9HAH3|Q9UFJ2	Splice_Site	SNP	ENST00000328834.5	37		CCDS2655.1	.	.	.	.	.	.	.	.	.	.	G	24.0	4.477058	0.84640	.	.	ENSG00000182973	ENST00000331889;ENST00000328834;ENST00000538368;ENST00000454516;ENST00000430408	.	.	.	5.81	5.81	0.92471	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.0912	0.97820	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CNOT10	32775953	1.000000	0.71417	1.000000	0.80357	0.915000	0.54546	9.543000	0.98089	2.746000	0.94184	0.591000	0.81541	.		0.428	CNOT10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253248.2	NM_015442	Intron	18	491	0	0	0	1	0	18	491					C	32800949	G	C	32800949	5	2	105	1	0	0	0	0	0	0	1	0	3618	1014	35	5	1649	5	CNOT10	3	32800949	Splice_Site	SNP	G	TCGA-EJ-7797-01A-11D-2260-08		32800949	165221481	13	5741											
FOXP1	27086	broad.mit.edu	37	chr3	71096126	71096126	+	Nonsense_Mutation	SNP	G	G	A																															ttgaaggggaagggcaggctGcccgggctgaattgtcagaa																										TCGA-EJ-7797-01A-11D-2260-08	TCGA-EJ-7797-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4637e5f8-e2cb-48ac-8f87-ef89e3c37574	c5de444a-73e7-4ab5-a966-7865d0d139ec	g.chr3:71096126G>A	ENST00000318789.4	-	10	1156	c.631C>T	c.(631-633)Cag>Tag	p.Q211*	FOXP1_ENST00000484350.1_Nonsense_Mutation_p.Q135*|FOXP1_ENST00000493089.1_Nonsense_Mutation_p.Q211*|FOXP1_ENST00000475937.1_Nonsense_Mutation_p.Q211*|FOXP1_ENST00000472382.1_5'UTR|FOXP1_ENST00000491238.1_Nonsense_Mutation_p.Q213*|FOXP1_ENST00000498215.1_Nonsense_Mutation_p.Q211*|FOXP1_ENST00000468577.1_Nonsense_Mutation_p.Q211*	NM_001244810.1|NM_001244813.1|NM_032682.5	NP_001231739.1|NP_001231742.1|NP_116071.2	Q9H334	FOXP1_HUMAN	forkhead box P1	211	Gln-rich.			GQP -> ARA (in Ref. 1; AAK69408). {ECO:0000305}.	negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	31		Lung NSC(201;4.62e-05)|Prostate(10;0.0181)|Hepatocellular(537;0.186)|Myeloproliferative disorder(1037;0.209)		BRCA - Breast invasive adenocarcinoma(55;1.17e-05)|Epithelial(33;1.39e-05)|LUSC - Lung squamous cell carcinoma(21;2.35e-05)|Lung(16;4.26e-05)		AGGGCAGGCTGCCCGGGCTGA	0.532			T	PAX5	ALL																																	ENST00000318789.4				Dom	yes		3	3p14.1	27086	T	forkhead box P1			L	PAX5		ALL		0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	31						c.(631-633)Cag>Tag		forkhead box P1							169	173	171					3																	71096126		2203	4300	6503	SO:0001587	stop_gained	27086				cardiac muscle cell differentiation|embryo development|immunoglobulin V(D)J recombination|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of immunoglobulin production|positive regulation of mesenchymal cell proliferation|pre-B cell differentiation|regulation of sequence-specific DNA binding transcription factor activity|skeletal muscle tissue development|smooth muscle tissue development	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding	g.chr3:71096126G>A	AF146696	CCDS2914.1, CCDS33785.1, CCDS58837.1, CCDS58838.1, CCDS58839.1, CCDS74963.1, CCDS74964.1	3p14.1	2008-07-18			ENSG00000114861	ENSG00000114861		"Forkhead boxes"	3823	protein-coding gene	gene with protein product	"fork head-related protein like B", "glutamine-rich factor 1", "PAX5/FOXP1 fusion protein"	605515				8265594, 11751404	Standard	NM_032682		Approved	QRF1, 12CC4, HSPC215, hFKH1B	uc003doj.3	Q9H334	OTTHUMG00000158803	ENST00000318789.4:c.631C>T	3.37:g.71096126G>A	ENSP00000318902:p.Gln211*					FOXP1_ENST00000498215.1_Nonsense_Mutation_p.Q211*|FOXP1_ENST00000484350.1_Nonsense_Mutation_p.Q135*|FOXP1_ENST00000472382.1_5'UTR|FOXP1_ENST00000475937.1_Nonsense_Mutation_p.Q211*|FOXP1_ENST00000493089.1_Nonsense_Mutation_p.Q211*|FOXP1_ENST00000491238.1_Nonsense_Mutation_p.Q213*|FOXP1_ENST00000468577.1_Nonsense_Mutation_p.Q211*	p.Q211*	NM_001244810.1|NM_001244813.1|NM_032682.5	NP_001231739.1|NP_001231742.1|NP_116071.2	Q9H334	FOXP1_HUMAN		BRCA - Breast invasive adenocarcinoma(55;1.17e-05)|Epithelial(33;1.39e-05)|LUSC - Lung squamous cell carcinoma(21;2.35e-05)|Lung(16;4.26e-05)	10	1156	-		Lung NSC(201;4.62e-05)|Prostate(10;0.0181)|Hepatocellular(537;0.186)|Myeloproliferative disorder(1037;0.209)	211	GQP -> ARA (in Ref. 1; AAK69408).		Gln-rich.		A3QVP8|B3KV70|G5E9V8|Q8NAN6|Q9BSG9|Q9H332|Q9H333|Q9P0R1	Nonsense_Mutation	SNP	ENST00000318789.4	37	c.631C>T	CCDS2914.1	.	.	.	.	.	.	.	.	.	.	G	37	6.248715	0.97412	.	.	ENSG00000114861	ENST00000318789;ENST00000318796;ENST00000475937;ENST00000339693;ENST00000497355;ENST00000491238;ENST00000493089;ENST00000498215;ENST00000484350;ENST00000468577;ENST00000485326;ENST00000497553	.	.	.	6.03	6.03	0.97812	.	0.103808	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	20.5666	0.99351	0.0:0.0:1.0:0.0	.	.	.	.	X	211;111;211;211;107;213;211;211;135;211;111;111	.	ENSP00000318902:Q211X	Q	-	1	0	FOXP1	71178816	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.878000	0.92393	2.854000	0.98071	0.655000	0.94253	CAG		0.532	FOXP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000352250.1	NM_032682		24	262	0	0	0	1	0	24	262					A	71096126	G	A	71096126	4	1	105	1	0	0	0	0	0	1	0	0	6026	1328	46	3	1450	3	FOXP1	3	71096126	Nonsense_Mutation	SNP	G	TCGA-EJ-7797-01A-11D-2260-08	38295177	71096126	126926304	14	5742	32	2									
FOXP1	27086	broad.mit.edu	37	chr3	71096127	71096127	+	Silent	SNP	C	C	A																															tgaaggggaagggcaggctgCccgggctgaattgtcagaag																										TCGA-EJ-7797-01A-11D-2260-08	TCGA-EJ-7797-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4637e5f8-e2cb-48ac-8f87-ef89e3c37574	c5de444a-73e7-4ab5-a966-7865d0d139ec	g.chr3:71096127C>A	ENST00000318789.4	-	10	1155	c.630G>T	c.(628-630)ggG>ggT	p.G210G	FOXP1_ENST00000484350.1_Silent_p.G134G|FOXP1_ENST00000493089.1_Silent_p.G210G|FOXP1_ENST00000475937.1_Silent_p.G210G|FOXP1_ENST00000472382.1_5'UTR|FOXP1_ENST00000491238.1_Silent_p.G212G|FOXP1_ENST00000498215.1_Silent_p.G210G|FOXP1_ENST00000468577.1_Silent_p.G210G	NM_001244810.1|NM_001244813.1|NM_032682.5	NP_001231739.1|NP_001231742.1|NP_116071.2	Q9H334	FOXP1_HUMAN	forkhead box P1	210	Gln-rich.			GQP -> ARA (in Ref. 1; AAK69408). {ECO:0000305}.	negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	31		Lung NSC(201;4.62e-05)|Prostate(10;0.0181)|Hepatocellular(537;0.186)|Myeloproliferative disorder(1037;0.209)		BRCA - Breast invasive adenocarcinoma(55;1.17e-05)|Epithelial(33;1.39e-05)|LUSC - Lung squamous cell carcinoma(21;2.35e-05)|Lung(16;4.26e-05)		GGGCAGGCTGCCCGGGCTGAA	0.532			T	PAX5	ALL																																	ENST00000318789.4				Dom	yes		3	3p14.1	27086	T	forkhead box P1			L	PAX5		ALL		0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	31						c.(628-630)ggG>ggT		forkhead box P1							168	172	171					3																	71096127		2203	4300	6503	SO:0001819	synonymous_variant	27086				cardiac muscle cell differentiation|embryo development|immunoglobulin V(D)J recombination|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of immunoglobulin production|positive regulation of mesenchymal cell proliferation|pre-B cell differentiation|regulation of sequence-specific DNA binding transcription factor activity|skeletal muscle tissue development|smooth muscle tissue development	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding	g.chr3:71096127C>A	AF146696	CCDS2914.1, CCDS33785.1, CCDS58837.1, CCDS58838.1, CCDS58839.1, CCDS74963.1, CCDS74964.1	3p14.1	2008-07-18			ENSG00000114861	ENSG00000114861		"Forkhead boxes"	3823	protein-coding gene	gene with protein product	"fork head-related protein like B", "glutamine-rich factor 1", "PAX5/FOXP1 fusion protein"	605515				8265594, 11751404	Standard	NM_032682		Approved	QRF1, 12CC4, HSPC215, hFKH1B	uc003doj.3	Q9H334	OTTHUMG00000158803	ENST00000318789.4:c.630G>T	3.37:g.71096127C>A						FOXP1_ENST00000498215.1_Silent_p.G210G|FOXP1_ENST00000484350.1_Silent_p.G134G|FOXP1_ENST00000472382.1_5'UTR|FOXP1_ENST00000475937.1_Silent_p.G210G|FOXP1_ENST00000493089.1_Silent_p.G210G|FOXP1_ENST00000491238.1_Silent_p.G212G|FOXP1_ENST00000468577.1_Silent_p.G210G	p.G210G	NM_001244810.1|NM_001244813.1|NM_032682.5	NP_001231739.1|NP_001231742.1|NP_116071.2	Q9H334	FOXP1_HUMAN		BRCA - Breast invasive adenocarcinoma(55;1.17e-05)|Epithelial(33;1.39e-05)|LUSC - Lung squamous cell carcinoma(21;2.35e-05)|Lung(16;4.26e-05)	10	1155	-		Lung NSC(201;4.62e-05)|Prostate(10;0.0181)|Hepatocellular(537;0.186)|Myeloproliferative disorder(1037;0.209)	210	GQP -> ARA (in Ref. 1; AAK69408).		Gln-rich.		A3QVP8|B3KV70|G5E9V8|Q8NAN6|Q9BSG9|Q9H332|Q9H333|Q9P0R1	Silent	SNP	ENST00000318789.4	37	c.630G>T	CCDS2914.1																																																																																				0.532	FOXP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000352250.1	NM_032682		25	258	1	0	2.48779e-11	1	2.92682e-11	25	258					A	71096127	C	A	71096127	2	1	105	1	0	0	0	0	0	0	0	1	6026	726	26	5		5	FOXP1	3	71096127	Silent	SNP	C	TCGA-EJ-7797-01A-11D-2260-08	1	71096127	126926303	15	5743	32	2									
COL6A6	131873	broad.mit.edu	37	chr3	130285695	130285695	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ataaggtgcgggttggggccGttcagtatgctgacagctgg	7	10	17	7	2	1	1	1	1	0	0	1	1	1	1	1	5	3	5	1	5	2	4			TCGA-EJ-7797-01A-11D-2260-08	TCGA-EJ-7797-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4637e5f8-e2cb-48ac-8f87-ef89e3c37574	c5de444a-73e7-4ab5-a966-7865d0d139ec	g.chr3:130285695G>A	ENST00000358511.6	+	4	1463	c.1432G>A	c.(1432-1434)Gtt>Att	p.V478I	COL6A6_ENST00000453409.2_Missense_Mutation_p.V478I	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	478	Nonhelical region.|VWFA 3. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						GGTTGGGGCCGTTCAGTATGC	0.498																																						ENST00000358511.6																			0				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						c.(1432-1434)Gtt>Att		collagen, type VI, alpha 6							132	133	133					3																	130285695		1926	4114	6040	SO:0001583	missense	131873				axon guidance|cell adhesion	collagen		g.chr3:130285695G>A	AL713792	CCDS46911.1	3q22.1	2013-01-16			ENSG00000206384	ENSG00000206384		"Collagens"	27023	protein-coding gene	gene with protein product							Standard	NM_001102608		Approved		uc010htl.3	A6NMZ7	OTTHUMG00000159653	ENST00000358511.6:c.1432G>A	3.37:g.130285695G>A	ENSP00000351310:p.Val478Ile					COL6A6_ENST00000453409.2_Missense_Mutation_p.V478I	p.V478I	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN			4	1463	+			478			Nonhelical region.|VWFA 3.		A7DZQ0|A7DZQ1|A7DZQ2|Q69YT0	Missense_Mutation	SNP	ENST00000358511.6	37	c.1432G>A	CCDS46911.1	.	.	.	.	.	.	.	.	.	.	G	26.4	4.731475	0.89390	.	.	ENSG00000206384	ENST00000358511;ENST00000453409	D;D	0.84800	-1.9;-1.9	5.18	5.18	0.71444	von Willebrand factor, type A (3);	0.000000	0.53938	D	0.000052	D	0.90518	0.7029	L	0.49455	1.56	0.50467	D	0.999873	D	0.89917	1.0	D	0.87578	0.998	D	0.91033	0.4865	10	0.59425	D	0.04	.	18.2817	0.90101	0.0:0.0:1.0:0.0	.	478	A6NMZ7	CO6A6_HUMAN	I	478	ENSP00000351310:V478I;ENSP00000399236:V478I	ENSP00000351310:V478I	V	+	1	0	COL6A6	131768385	1.000000	0.71417	0.316000	0.25252	0.982000	0.71751	9.529000	0.98049	2.412000	0.81896	0.561000	0.74099	GTT		0.498	COL6A6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356705.5	NM_001102608		3	158	0	0	0	1	0	3	158					A	130285695	G	A	130285695	3	1	105	1	0	0	0	0	1	0	0	0	3703	1145	40	1	1446	1	COL6A6	3	130285695	Missense_Mutation	SNP	G	TCGA-EJ-7797-01A-11D-2260-08	59189568	130285695	67736735	16	5744											
EVC	2121	broad.mit.edu	37	chr4	5735120	5735120	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tacagccttcacttaaaagaCctgctgcatttggacacggc	11	10	8	12	1	1	1	1	0	0	1	1	2	1	2	2	2	4	2	2	2	3	4	rs200294295		TCGA-EJ-7797-01A-11D-2260-08	TCGA-EJ-7797-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4637e5f8-e2cb-48ac-8f87-ef89e3c37574	c5de444a-73e7-4ab5-a966-7865d0d139ec	g.chr4:5735120C>T	ENST00000264956.6	+	5	844	c.660C>T	c.(658-660)gaC>gaT	p.D220D	EVC_ENST00000382674.2_Silent_p.D220D|EVC_ENST00000509451.1_Silent_p.D220D	NM_153717.2	NP_714928.1	P57679	EVC_HUMAN	Ellis van Creveld syndrome	220					cartilage development (GO:0051216)|endochondral bone growth (GO:0003416)|muscle organ development (GO:0007517)|positive regulation of smoothened signaling pathway (GO:0045880)|skeletal system development (GO:0001501)|smoothened signaling pathway (GO:0007224)	ciliary basal body (GO:0036064)|cilium (GO:0005929)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|breast(1)|endometrium(2)|large_intestine(10)|lung(11)|ovary(1)|skin(1)|stomach(1)	28		Myeloproliferative disorder(84;0.117)				ACTTAAAAGACCTGCTGCATT	0.468																																						ENST00000382674.2																			0				NS(1)|breast(1)|endometrium(2)|large_intestine(10)|lung(11)|ovary(1)|skin(1)|stomach(1)	28						c.(658-660)gaC>gaT		Ellis van Creveld syndrome							330	311	318					4																	5735120		2203	4300	6503	SO:0001819	synonymous_variant	2121				muscle organ development	integral to membrane		g.chr4:5735120C>T	AF216184	CCDS3383.1	4p16	2008-07-03			ENSG00000072840	ENSG00000072840			3497	protein-coding gene	gene with protein product		604831				10700184	Standard	NM_153717		Approved	DWF-1	uc003gil.1	P57679	OTTHUMG00000090427	ENST00000264956.6:c.660C>T	4.37:g.5735120C>T						EVC_ENST00000264956.6_Silent_p.D220D|EVC_ENST00000509451.1_Silent_p.D220D	p.D220D			P57679	EVC_HUMAN			5	844	+		Myeloproliferative disorder(84;0.117)	220						Silent	SNP	ENST00000264956.6	37	c.660C>T	CCDS3383.1																																																																																				0.468	EVC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206859.1			63	281	0	0	0	1	0	63	281					T	5735120	C	T	5735120	2	4	105	1	0	0	0	0	0	0	0	1	5285	506	18	3		3	EVC	4	5735120	Silent	SNP	C	TCGA-EJ-7797-01A-11D-2260-08		5735120	185419156	17	5745											
PPM1K	152926	broad.mit.edu	37	chr4	89183862	89183862	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgcagtactgttatcctcaGtaccgtactgtattgcctgc	7	14	8	12	1	1	0	1	0	0	0	2	0	2	0	3	0	6	6	3	0	5	6			TCGA-EJ-7797-01A-11D-2260-08	TCGA-EJ-7797-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4637e5f8-e2cb-48ac-8f87-ef89e3c37574	c5de444a-73e7-4ab5-a966-7865d0d139ec	g.chr4:89183862G>A	ENST00000608933.1	-	7	1393	c.1004C>T	c.(1003-1005)aCt>aTt	p.T335I	PPM1K_ENST00000295908.7_Missense_Mutation_p.T290I|PPM1K_ENST00000508256.1_Missense_Mutation_p.T116I	NM_152542.4	NP_689755.3	Q8N3J5	PPM1K_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1K	335	PP2C-like.				protein dephosphorylation (GO:0006470)	mitochondrion (GO:0005739)	metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)			endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(1)	13		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000192)		GTTATCCTCAGTACCGTACTG	0.423																																						ENST00000295908.6																			0				endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(1)	13						c.(1003-1005)aCt>aTt		protein phosphatase, Mg2+/Mn2+ dependent, 1K							88	82	84					4																	89183862		2203	4300	6503	SO:0001583	missense	152926				protein dephosphorylation	mitochondrial matrix|protein serine/threonine phosphatase complex	metal ion binding|protein serine/threonine phosphatase activity	g.chr4:89183862G>A	BC037552	CCDS3629.1	4q22.1	2012-04-17	2010-03-05		ENSG00000163644	ENSG00000163644	3.1.3.16	"Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"	25415	protein-coding gene	gene with protein product	"PP2C-type mitochondrial phosphoprotein phosphatase", "protein phosphatase 2C kappa", "branched-chain &#945;-ketoacid dehydrogenase phosphatase"	611065	"protein phosphatase 1K (PP2C domain containing)"			22291014	Standard	NM_152542		Approved	DKFZp761G058, PP2Ckappa, hPTMP, PP2Cm, BDP	uc003hrm.5	Q8N3J5	OTTHUMG00000130952	ENST00000608933.1:c.1004C>T	4.37:g.89183862G>A	ENSP00000477341:p.Thr335Ile						p.T335I	NM_152542.3	NP_689755.3	Q8N3J5	PPM1K_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000192)	7	1393	-		Hepatocellular(203;0.114)	335			PP2C-like.		B2RAZ1|Q05CT5|Q49AB5|Q4W5E6|Q56AN8|Q8IUZ7|Q8IXG7|Q8ND70|Q96NT4	Missense_Mutation	SNP	ENST00000608933.1	37	c.1004C>T	CCDS3629.1	.	.	.	.	.	.	.	.	.	.	G	13.61	2.287434	0.40494	.	.	ENSG00000163644	ENST00000295908	T	0.19669	2.13	4.09	3.24	0.37175	Protein phosphatase 2C-like (5);	0.115300	0.64402	D	0.000013	T	0.39682	0.1087	L	0.52011	1.625	0.80722	D	1	P	0.44478	0.836	D	0.67548	0.952	T	0.29610	-1.0006	10	0.87932	D	0	-6.7388	13.6472	0.62288	0.0:0.1574:0.8426:0.0	.	335	Q8N3J5	PPM1K_HUMAN	I	335	ENSP00000295908:T335I	ENSP00000295908:T335I	T	-	2	0	PPM1K	89402886	0.993000	0.37304	0.013000	0.15412	0.030000	0.12068	5.219000	0.65262	1.277000	0.44412	0.650000	0.86243	ACT		0.423	PPM1K-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253553.4	NM_152542		10	39	0	0	0	1	0	10	39					A	89183862	G	A	89183862	3	1	105	1	0	0	0	0	1	0	0	0	12343	1029	36	3	118	3	PPM1K	4	89183862	Missense_Mutation	SNP	G	TCGA-EJ-7797-01A-11D-2260-08	83448742	89183862	101970414	18	5746											
ATOH1	474	broad.mit.edu	37	chr4	94750937	94750937	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctgcgggagggtactcggTgcagctggacgctctgcact	5	10	15	11	3	2	0	0	0	2	0	3	2	2	2	0	4	5	5	0	4	1	2			TCGA-EJ-7797-01A-11D-2260-08	TCGA-EJ-7797-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4637e5f8-e2cb-48ac-8f87-ef89e3c37574	c5de444a-73e7-4ab5-a966-7865d0d139ec	g.chr4:94750937T>A	ENST00000306011.3	+	1	896	c.860T>A	c.(859-861)gTg>gAg	p.V287E		NM_005172.1	NP_005163.1	Q92858	ATOH1_HUMAN	atonal homolog 1 (Drosophila)	287					auditory receptor cell fate determination (GO:0042668)|auditory receptor cell fate specification (GO:0042667)|axon guidance (GO:0007411)|central nervous system development (GO:0007417)|cerebral cortex development (GO:0021987)|inner ear morphogenesis (GO:0042472)|negative regulation of apoptotic process (GO:0043066)|neuron migration (GO:0001764)|positive regulation of auditory receptor cell differentiation (GO:0045609)|positive regulation of neuron differentiation (GO:0045666)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	11		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;3.57e-07)		GGGTACTCGGTGCAGCTGGAC	0.647																																						ENST00000306011.3																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	11						c.(859-861)gTg>gAg		atonal homolog 1 (Drosophila)							48	51	50					4																	94750937		2202	4298	6500	SO:0001583	missense	474				transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding transcription factor activity	g.chr4:94750937T>A	U61148	CCDS3638.1	4q22	2013-05-21			ENSG00000172238	ENSG00000172238		"Basic helix-loop-helix proteins"	797	protein-coding gene	gene with protein product		601461				8872459	Standard	NM_005172		Approved	HATH1, MATH-1, Math1, bHLHa14	uc003hta.1	Q92858	OTTHUMG00000130972	ENST00000306011.3:c.860T>A	4.37:g.94750937T>A	ENSP00000302216:p.Val287Glu						p.V287E	NM_005172.1	NP_005163.1	Q92858	ATOH1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;3.57e-07)	1	896	+		Hepatocellular(203;0.114)	287					Q14CT9	Missense_Mutation	SNP	ENST00000306011.3	37	c.860T>A	CCDS3638.1	.	.	.	.	.	.	.	.	.	.	T	13.17	2.158064	0.38119	.	.	ENSG00000172238	ENST00000306011	D	0.97831	-4.56	4.4	4.4	0.53042	.	0.000000	0.64402	D	0.000007	D	0.93406	0.7897	L	0.27053	0.805	0.30508	N	0.769724	B	0.10296	0.003	B	0.09377	0.004	D	0.89420	0.3709	10	0.42905	T	0.14	-11.0778	7.3159	0.26501	0.2509:0.0:0.0:0.7491	.	287	Q92858	ATOH1_HUMAN	E	287	ENSP00000302216:V287E	ENSP00000302216:V287E	V	+	2	0	ATOH1	94969960	0.996000	0.38824	0.994000	0.49952	0.989000	0.77384	0.567000	0.23608	1.851000	0.53745	0.523000	0.50628	GTG		0.647	ATOH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253585.1	NM_005172		7	89	0	0	0	1	0	7	89					A	94750937	T	A	94750937	3	1	105	1	0	0	0	0	1	0	0	0	1112	1696	59	5	862	5	ATOH1	4	94750937	Missense_Mutation	SNP	T	TCGA-EJ-7797-01A-11D-2260-08	5567075	94750937	96403339	19	5747											
DKK2	27123	broad.mit.edu	37	chr4	107956655	107956655	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatggagttgagtttggcccGcgaactgccgatctgtgagc	7	10	15	9	3	1	2	0	2	1	0	1	6	1	3	2	2	3	2	2	2	1	2			TCGA-EJ-7797-01A-11D-2260-08	TCGA-EJ-7797-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4637e5f8-e2cb-48ac-8f87-ef89e3c37574	c5de444a-73e7-4ab5-a966-7865d0d139ec	g.chr4:107956655G>A	ENST00000285311.3	-	1	799	c.94C>T	c.(94-96)Cgg>Tgg	p.R32W	DKK2_ENST00000513208.1_Intron|DKK2_ENST00000510463.1_Intron	NM_014421.2	NP_055236.1	Q9UBU2	DKK2_HUMAN	dickkopf WNT signaling pathway inhibitor 2	32					multicellular organismal development (GO:0007275)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|Wnt signaling pathway (GO:0016055)	extracellular space (GO:0005615)				autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	32		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;6.34e-06)		AGTTTGGCCCGCGAACTGCCG	0.637																																						ENST00000285311.3																			0				autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	32						c.(94-96)Cgg>Tgg		dickkopf WNT signaling pathway inhibitor 2							80	81	81					4																	107956655		2203	4300	6503	SO:0001583	missense	27123				multicellular organismal development|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	extracellular space		g.chr4:107956655G>A	AB033208	CCDS3675.1	4q25	2013-05-15	2013-05-15		ENSG00000155011	ENSG00000155011			2892	protein-coding gene	gene with protein product		605415	"dickkopf (Xenopus laevis) homolog 2", "dickkopf 2 homolog (Xenopus laevis)"			10570958	Standard	NM_014421		Approved		uc003hyi.3	Q9UBU2	OTTHUMG00000131216	ENST00000285311.3:c.94C>T	4.37:g.107956655G>A	ENSP00000285311:p.Arg32Trp					DKK2_ENST00000513208.1_Intron|DKK2_ENST00000510463.1_Intron	p.R32W	NM_014421.2	NP_055236.1	Q9UBU2	DKK2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;6.34e-06)	1	799	-		Hepatocellular(203;0.217)	32					A0AVE9|B2R6S7|Q9UIU3	Missense_Mutation	SNP	ENST00000285311.3	37	c.94C>T	CCDS3675.1	.	.	.	.	.	.	.	.	.	.	G	15.91	2.972807	0.53614	.	.	ENSG00000155011	ENST00000285311	T	0.47528	0.84	4.95	4.03	0.46877	.	0.298320	0.35436	N	0.003206	T	0.45115	0.1326	N	0.19112	0.55	0.80722	D	1	D;D	0.69078	0.997;0.984	P;B	0.56648	0.803;0.19	T	0.31752	-0.9932	10	0.37606	T	0.19	-15.4897	12.802	0.57591	0.0:0.0:0.7429:0.2571	.	32;32	Q9H3R7;Q9UBU2	.;DKK2_HUMAN	W	32	ENSP00000285311:R32W	ENSP00000285311:R32W	R	-	1	2	DKK2	108176104	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.809000	0.38922	2.570000	0.86706	0.544000	0.68410	CGG		0.637	DKK2-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253959.4			4	169	0	0	0	1	0	4	169					A	107956655	G	A	107956655	3	1	105	1	0	0	0	0	1	0	0	0	4545	1086	38	1	701	1	DKK2	4	107956655	Missense_Mutation	SNP	G	TCGA-EJ-7797-01A-11D-2260-08	13205718	107956655	83197621	20	5748											
FAT4	79633	broad.mit.edu	37	chr4	126242060	126242060	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tttgagttgactgtaaaagcCaatgatcaagctgtgccaat	13	12	9	7	0	1	3	1	3	0	0	1	3	1	3	2	0	3	3	2	0	5	3			TCGA-EJ-7797-01A-11D-2260-08	TCGA-EJ-7797-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4637e5f8-e2cb-48ac-8f87-ef89e3c37574	c5de444a-73e7-4ab5-a966-7865d0d139ec	g.chr4:126242060C>G	ENST00000394329.3	+	1	4507	c.4494C>G	c.(4492-4494)gcC>gcG	p.A1498A		NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	1498	Cadherin 14. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						CTGTAAAAGCCAATGATCAAG	0.383																																						ENST00000394329.3																			0				NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						c.(4492-4494)gcC>gcG		FAT atypical cadherin 4							117	108	111					4																	126242060		1902	4126	6028	SO:0001819	synonymous_variant	79633				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:126242060C>G	AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"Cadherins / Cadherin-related"	23109	protein-coding gene	gene with protein product	"cadherin-related family member 11"	612411	"FAT tumor suppressor homolog 4 (Drosophila)"			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.4494C>G	4.37:g.126242060C>G							p.A1498A	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN			1	4507	+			1498			Cadherin 14.		A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Silent	SNP	ENST00000394329.3	37	c.4494C>G	CCDS3732.3																																																																																				0.383	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582		22	99	0	0	0	1	0	22	99					G	126242060	C	G	126242060	2	3	105	1	0	0	0	0	0	0	0	1	5692	581	21	5		5	FAT4	4	126242060	Silent	SNP	C	TCGA-EJ-7797-01A-11D-2260-08	18285405	126242060	64912216	21	5749											
TNXB	7148	broad.mit.edu	37	chr6	32010244	32010244	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ccacccaccagccagccgccCccatcagtctccatgtcgca	8	5	6	22	2	2	0	1	0	1	0	4	0	2	0	8	0	2	1	8	0	0	0	rs149810124	byFrequency	TCGA-EJ-7797-01A-11D-2260-08	TCGA-EJ-7797-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4637e5f8-e2cb-48ac-8f87-ef89e3c37574	c5de444a-73e7-4ab5-a966-7865d0d139ec	g.chr6:32010244C>G	ENST00000375244.3	-	40	12399	c.12198G>C	c.(12196-12198)ggG>ggC	p.G4066G	TNXB_ENST00000375247.2_Silent_p.G4064G|TNXB_ENST00000451343.1_Silent_p.G495G			P22105	TENX_HUMAN	tenascin XB	4111	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.|Fibronectin type-III 32. {ECO:0000255|PROSITE-ProRule:PRU00316}.				actin cytoskeleton organization (GO:0030036)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|collagen fibril organization (GO:0030199)|collagen metabolic process (GO:0032963)|elastic fiber assembly (GO:0048251)|extracellular fibril organization (GO:0043206)|fatty acid metabolic process (GO:0006631)|regulation of JUN kinase activity (GO:0043506)|single organismal cell-cell adhesion (GO:0016337)|triglyceride metabolic process (GO:0006641)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						GCCAGCCGCCCCCATCAGTCT	0.652																																						ENST00000375244.3																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						c.(12196-12198)ggG>ggC		tenascin XB							48	46	47					6																	32010244		1511	2709	4220	SO:0001819	synonymous_variant	7148				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding	g.chr6:32010244C>G	X71923	CCDS4736.1	6p21.3	2013-02-11			ENSG00000168477	ENSG00000168477		"Fibrinogen C domain containing", "Fibronectin type III domain containing"	11976	protein-coding gene	gene with protein product		600985		TNXB1, TNXB2		8530023	Standard	NM_019105		Approved	TNXBS, XBS, XB	uc021yvf.2	P22105	OTTHUMG00000031088	ENST00000375244.3:c.12198G>C	6.37:g.32010244C>G						TNXB_ENST00000451343.1_Silent_p.G495G|TNXB_ENST00000375247.2_Silent_p.G4064G	p.G4066G			P22105	TENX_HUMAN			40	12399	-			4111			Fibrinogen C-terminal.		P78530|P78531|Q08424|Q08AM0|Q08AM1|Q59GU7|Q5SQD3|Q5ST74|Q7L8Q4|Q8N4R1|Q9NPK9|Q9UC10|Q9UC11|Q9UC12|Q9UC13|Q9UMG7	Silent	SNP	ENST00000375244.3	37	c.12198G>C																																																																																					0.652	TNXB-001	PUTATIVE	not_organism_supported|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000268927.2	NM_019105		5	71	0	0	0	1	0	5	71					G	32010244	C	G	32010244	2	3	105	1	0	0	0	0	0	0	0	1	16343	610	22	5		5	TNXB	6	32010244	Silent	SNP	C	TCGA-EJ-7797-01A-11D-2260-08		32010244	139104823	22	5750											
TRERF1	55809	broad.mit.edu	37	chr6	42231118	42231118	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttgtctctggcggagggggcGgcaacggtgctgttggtgaa	5	10	19	7	3	1	1	0	1	1	0	2	2	1	2	0	7	2	3	0	7	2	2	rs574595307	byFrequency	TCGA-EJ-7797-01A-11D-2260-08	TCGA-EJ-7797-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4637e5f8-e2cb-48ac-8f87-ef89e3c37574	c5de444a-73e7-4ab5-a966-7865d0d139ec	g.chr6:42231118G>A	ENST00000372922.4	-	8	2386	c.1824C>T	c.(1822-1824)gcC>gcT	p.A608A	TRERF1_ENST00000541110.1_Silent_p.A608A|TRERF1_ENST00000354325.2_Intron|TRERF1_ENST00000372917.4_Intron|TRERF1_ENST00000340840.2_Intron	NM_033502.2	NP_277037.1	Q96PN7	TREF1_HUMAN	transcriptional regulating factor 1	608	Interacts with CREBBP.|Pro-rich.				cholesterol catabolic process (GO:0006707)|homeostatic process (GO:0042592)|multicellular organismal development (GO:0007275)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of hormone biosynthetic process (GO:0046885)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|steroid biosynthetic process (GO:0006694)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding, bending (GO:0008301)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|metal ion binding (GO:0046872)|RNA polymerase II transcription cofactor activity (GO:0001104)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			breast(1)|central_nervous_system(2)|endometrium(7)|kidney(1)|large_intestine(12)|lung(13)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(2)	45	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			CGGAGGGGGCGGCAACGGTGC	0.637													G|||	2	0.000399361	0	0.0014	5008	,	,		14915	0		0	False		,,,				2504	0.001					ENST00000541110.1																			0				breast(1)|central_nervous_system(2)|endometrium(7)|kidney(1)|large_intestine(12)|lung(13)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(2)	45						c.(1822-1824)gcC>gcT		transcriptional regulating factor 1							63	67	66					6																	42231118		2203	4300	6503	SO:0001819	synonymous_variant	55809				cholesterol catabolic process|homeostatic process|multicellular organismal development|positive regulation of transcription, DNA-dependent|regulation of hormone biosynthetic process|steroid biosynthetic process	nucleus	DNA bending activity|ligand-dependent nuclear receptor transcription coactivator activity|RNA polymerase II transcription cofactor activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding	g.chr6:42231118G>A	AF297872	CCDS4867.1, CCDS75455.1	6p21.1-p12.1	2012-09-25			ENSG00000124496	ENSG00000124496			18273	protein-coding gene	gene with protein product		610322	"breast cancer anti-estrogen resistance 2"	BCAR2		11349124	Standard	XM_005249223		Approved	TReP-132, HSA277276, RAPA, dJ139D8.5	uc003osd.2	Q96PN7	OTTHUMG00000014698	ENST00000372922.4:c.1824C>T	6.37:g.42231118G>A						TRERF1_ENST00000372917.4_Intron|TRERF1_ENST00000340840.2_Intron|TRERF1_ENST00000372922.4_Silent_p.A608A|TRERF1_ENST00000354325.2_Intron	p.A608A			Q96PN7	TREF1_HUMAN	Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)		8	2392	-	Colorectal(47;0.196)		608			Interacts with CREBBP.|Pro-rich.		Q05GC6|Q7Z6T2|Q7Z6T3|Q9NQ72|Q9NQ73|Q9NUN9	Silent	SNP	ENST00000372922.4	37	c.1824C>T	CCDS4867.1																																																																																				0.637	TRERF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040551.2	NM_033502		3	140	0	0	0	1	0	3	140					A	42231118	G	A	42231118	2	1	105	1	0	0	0	0	0	0	0	1	16472	1103	39	2		2	TRERF1	6	42231118	Silent	SNP	G	TCGA-EJ-7797-01A-11D-2260-08	10220874	42231118	128883949	23	5751											
POM121	9883	broad.mit.edu	37	chr7	72409217	72409217	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggagaggccagcaaagaaaaTaaggtacttggcattctcct	14	8	11	8	0	1	2	0	0	1	2	2	3	1	2	2	4	2	3	2	4	5	4			TCGA-EJ-7797-01A-11D-2260-08	TCGA-EJ-7797-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4637e5f8-e2cb-48ac-8f87-ef89e3c37574	c5de444a-73e7-4ab5-a966-7865d0d139ec	g.chr7:72409217T>G	ENST00000434423.2	+	6	1364	c.1364T>G	c.(1363-1365)aTa>aGa	p.I455R	POM121_ENST00000257622.4_Missense_Mutation_p.I190R|POM121_ENST00000358357.3_Missense_Mutation_p.I190R|POM121_ENST00000395270.1_Missense_Mutation_p.I190R|POM121_ENST00000446813.1_Missense_Mutation_p.I190R			Q96HA1	P121A_HUMAN	POM121 transmembrane nucleoporin	455	Pore side. {ECO:0000255}.				carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	endoplasmic reticulum (GO:0005783)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)				NS(1)|breast(1)|endometrium(9)|kidney(4)|large_intestine(6)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Lung NSC(55;0.163)				GCAAAGAAAATAAGGTACTTG	0.537																																						ENST00000395270.1																			0				NS(1)|breast(1)|endometrium(9)|kidney(4)|large_intestine(6)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						c.(568-570)aTa>aGa		POM121 transmembrane nucleoporin							102	112	109					7																	72409217		2203	4300	6503	SO:0001583	missense	9883				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore		g.chr7:72409217T>G	AB014518	CCDS5542.1, CCDS59059.1	7q11.23	2013-01-08	2012-03-13		ENSG00000196313	ENSG00000196313		"-"	19702	protein-coding gene	gene with protein product		615753	"POM121 membrane glycoprotein (rat)", "POM121 membrane glycoprotein"			8335683, 9734811, 17900573	Standard	NM_172020		Approved	KIAA0618, DKFZP586G1822, DKFZP586P2220, POM121A	uc003twk.2	Q96HA1	OTTHUMG00000023527	ENST00000434423.2:c.1364T>G	7.37:g.72409217T>G	ENSP00000405562:p.Ile455Arg					POM121_ENST00000358357.3_Missense_Mutation_p.I190R|POM121_ENST00000446813.1_Missense_Mutation_p.I190R|POM121_ENST00000257622.4_Missense_Mutation_p.I190R|POM121_ENST00000434423.2_Missense_Mutation_p.I455R	p.I190R	NM_001257190.1	NP_001244119.1	Q96HA1	P121A_HUMAN			9	1610	+		Lung NSC(55;0.163)	455			Pore side (Potential).|Pro-rich.|Required for targeting to the nucleus and nuclear pore complex.		A6NFS9|A8CDT4|A8K933|A8MXF9|O75115|Q96DI0|Q9H9X1|Q9Y2N3|Q9Y4S7	Missense_Mutation	SNP	ENST00000434423.2	37	c.569T>G		.	.	.	.	.	.	.	.	.	.	T	9.317	1.057087	0.19907	.	.	ENSG00000196313	ENST00000446813;ENST00000257622;ENST00000395270;ENST00000358357;ENST00000434423	T;T;T;T;T	0.10960	2.82;2.82;2.82;2.82;2.82	3.74	-0.211	0.13172	.	1.021390	0.07865	N	0.966918	T	0.06917	0.0176	N	0.20685	0.6	0.33184	D	0.549967	B;B	0.10296	0.003;0.0	B;B	0.11329	0.003;0.006	T	0.28586	-1.0039	10	0.59425	D	0.04	.	4.2811	0.10833	0.0:0.5229:0.2243:0.2528	.	190;455	A8MXF9;Q96HA1	.;P121A_HUMAN	R	190;190;190;190;455	ENSP00000393020:I190R;ENSP00000257622:I190R;ENSP00000378687:I190R;ENSP00000351124:I190R;ENSP00000405562:I455R	ENSP00000257622:I190R	I	+	2	0	POM121	72047153	0.002000	0.14202	0.498000	0.27564	0.689000	0.40095	0.232000	0.17891	0.097000	0.17492	0.333000	0.21579	ATA		0.537	POM121-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000347344.1			14	111	0	0	0	1	0	14	111					G	72409217	T	G	72409217	3	3	105	1	0	0	0	0	1	0	0	0	12239	1406	49	5	587	5	POM121	7	72409217	Missense_Mutation	SNP	T	TCGA-EJ-7797-01A-11D-2260-08		72409217	86729446	24	5752											
LMTK2	22853	broad.mit.edu	37	chr7	97736519	97736521	+	In_Frame_Del	DEL	GCT	GCT	-																															ccgccggcgttgcggcggagGctgctgctgctgctgctggt																								rs548021046	byFrequency	TCGA-EJ-7797-01A-11D-2260-08	TCGA-EJ-7797-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4637e5f8-e2cb-48ac-8f87-ef89e3c37574	c5de444a-73e7-4ab5-a966-7865d0d139ec	g.chr7:97736519_97736521delGCT	ENST00000297293.5	+	1	323_325	c.30_32delGCT	c.(28-33)aggctg>agg	p.L16del		NM_014916.3	NP_055731.2	Q8IWU2	LMTK2_HUMAN	lemur tyrosine kinase 2	16					early endosome to late endosome transport (GO:0045022)|endocytic recycling (GO:0032456)|negative regulation of catalytic activity (GO:0043086)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|receptor recycling (GO:0001881)|transferrin transport (GO:0033572)	early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)	ATP binding (GO:0005524)|myosin VI binding (GO:0070853)|protein phosphatase inhibitor activity (GO:0004864)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3)	59	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)					TGCGGCGGAGGCTGCTGCTGCTG	0.764																																						ENST00000297293.5																			0				NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3)	59						c.(28-33)agg>ag		lemur tyrosine kinase 2				31,1377		8,15,681						-3.5	0.1		dbSNP_134	2	92,3378		12,68,1655	no	coding	LMTK2	NM_014916.3		20,83,2336	A1A1,A1R,RR		2.6513,2.2017,2.5215				123,4755				SO:0001651	inframe_deletion	22853				early endosome to late endosome transport|endocytic recycling|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation|receptor recycling|transferrin transport	early endosome|Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|recycling endosome	ATP binding|myosin VI binding|protein phosphatase inhibitor activity|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr7:97736519_97736521delGCT	AB029002	CCDS5654.1	7q22.1	2014-06-12			ENSG00000164715	ENSG00000164715			17880	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 100"	610989				15005709	Standard	NM_014916		Approved	KIAA1079, KPI2, KPI-2, cprk, LMR2, BREK, AATYK2, PPP1R100	uc003upd.2	Q8IWU2	OTTHUMG00000154256	ENST00000297293.5:c.30_32delGCT	7.37:g.97736528_97736530delGCT	ENSP00000297293:p.Leu16del						p.RL10del	NM_014916.3	NP_055731.2	Q8IWU2	LMTK2_HUMAN			1	323_325	+	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)		10					A4D272|Q75MG7|Q9UPS3	In_Frame_Del	DEL	ENST00000297293.5	37	c.30_32delGCT	CCDS5654.1																																																																																				0.764	LMTK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334560.1	NM_014916		2	4						2	4	---	---	---	---	-	97736521	GCT	-	97736519	7	5	105	1	0	1	0	1	0	0	0	0	8859	1194	42	0	32	0	LMTK2	7	97736519	In_Frame_Del	DEL	GCT	TCGA-EJ-7797-01A-11D-2260-08	25327302	97736519	61402144	25	5753											
DPP6	1804	broad.mit.edu	37	chr7	154677383	154677383	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cacctacatcctcccagcaaAgggagaaaatcaaggccaga	16	4	8	13	0	1	2	1	0	0	2	3	3	3	2	4	2	2	1	4	2	5	1			TCGA-EJ-7797-01A-11D-2260-08	TCGA-EJ-7797-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4637e5f8-e2cb-48ac-8f87-ef89e3c37574	c5de444a-73e7-4ab5-a966-7865d0d139ec	g.chr7:154677383A>G	ENST00000377770.3	+	22	2315	c.2174A>G	c.(2173-2175)aAg>aGg	p.K725R	DPP6_ENST00000332007.3_Missense_Mutation_p.K663R|DPP6_ENST00000404039.1_Missense_Mutation_p.K661R|DPP6_ENST00000427557.1_Missense_Mutation_p.K618R			P42658	DPP6_HUMAN	dipeptidyl-peptidase 6	725					cell death (GO:0008219)|neuronal action potential (GO:0019228)|positive regulation of potassium ion transmembrane transport (GO:1901381)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	dipeptidyl-peptidase activity (GO:0008239)|serine-type peptidase activity (GO:0008236)			NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	71	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	OV - Ovarian serous cystadenocarcinoma(82;0.0562)			CTCCCAGCAAAGGGAGAAAAT	0.517																																					NSCLC(125;1384 1783 2490 7422 34254)	ENST00000404039.1																			0				NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	71						c.(1981-1983)aAg>aGg		dipeptidyl-peptidase 6							61	66	64					7																	154677383		2005	4181	6186	SO:0001583	missense	1804				cell death|proteolysis	integral to membrane	dipeptidyl-peptidase activity|serine-type peptidase activity	g.chr7:154677383A>G	M96859	CCDS75682.1, CCDS75683.1, CCDS75684.1	7q36.2	2006-08-07	2006-01-12		ENSG00000130226	ENSG00000130226			3010	protein-coding gene	gene with protein product		126141	"dipeptidylpeptidase VI", "dipeptidylpeptidase 6"			1729689	Standard	XM_006715871		Approved	DPPX	uc003wlk.3	P42658	OTTHUMG00000151511	ENST00000377770.3:c.2174A>G	7.37:g.154677383A>G	ENSP00000367001:p.Lys725Arg					DPP6_ENST00000332007.3_Missense_Mutation_p.K663R|DPP6_ENST00000427557.1_Missense_Mutation_p.K618R|DPP6_ENST00000377770.3_Missense_Mutation_p.K725R	p.K661R	NM_001039350.1|NM_001936.3|NM_130797.2	NP_001034439.1|NP_001927.3|NP_570629.2	P42658	DPP6_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0562)		22	2569	+	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	725						Missense_Mutation	SNP	ENST00000377770.3	37	c.1982A>G		.	.	.	.	.	.	.	.	.	.	A	5.889	0.348222	0.11126	.	.	ENSG00000130226	ENST00000404039;ENST00000377770;ENST00000332007;ENST00000427557	T;T;T;T	0.41758	0.99;0.99;0.99;0.99	5.43	5.43	0.79202	Peptidase S9, prolyl oligopeptidase, catalytic domain (1);	0.355607	0.31747	N	0.007125	T	0.29588	0.0738	N	0.17631	0.505	0.32388	N	0.55367	B;B;B;B	0.30179	0.271;0.102;0.124;0.124	B;B;B;B	0.38156	0.266;0.053;0.127;0.088	T	0.40021	-0.9585	10	0.33940	T	0.23	-20.797	5.8294	0.18572	0.7926:0.0:0.2074:0.0	.	618;663;725;661	E9PDL2;P42658-2;P42658;E9PF59	.;.;DPP6_HUMAN;.	R	661;725;663;618	ENSP00000385578:K661R;ENSP00000367001:K725R;ENSP00000328226:K663R;ENSP00000397303:K618R	ENSP00000328226:K663R	K	+	2	0	DPP6	154308316	1.000000	0.71417	0.323000	0.25347	0.005000	0.04900	5.802000	0.69122	2.061000	0.61500	0.482000	0.46254	AAG		0.517	DPP6-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000322932.1	NM_130797		2	8	0	0	0	1	0	2	8					G	154677383	A	G	154677383	3	3	105	1	0	0	0	0	1	0	0	0	4730	72	3	4	2376	4	DPP6	7	154677383	Missense_Mutation	SNP	A	TCGA-EJ-7797-01A-11D-2260-08	56940864	154677383	4461280	26	5754											
DCAF4L2	138009	broad.mit.edu	37	chr8	88885088	88885088	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcctcggaagcccccgaggCgagaagagaaggccacactg	11	3	13	14	3	0	2	0	0	0	2	2	6	1	3	4	3	1	0	4	3	3	0			TCGA-EJ-7797-01A-11D-2260-08	TCGA-EJ-7797-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4637e5f8-e2cb-48ac-8f87-ef89e3c37574	c5de444a-73e7-4ab5-a966-7865d0d139ec	g.chr8:88885088C>T	ENST00000319675.3	-	1	1208	c.1112G>A	c.(1111-1113)cGc>cAc	p.R371H		NM_152418.3	NP_689631.1	Q8NA75	DC4L2_HUMAN	DDB1 and CUL4 associated factor 4-like 2	371								p.R371H(1)		breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	83						GCCCCCGAGGCGAGAAGAGAA	0.592																																						ENST00000319675.3																			1	Substitution - Missense(1)	p.R371H(1)	endometrium(1)	breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	83						c.(1111-1113)cGc>cAc		DDB1 and CUL4 associated factor 4-like 2							61	68	65					8																	88885088		2203	4300	6503	SO:0001583	missense	138009							g.chr8:88885088C>T	AL833507	CCDS6245.1	8q21.3	2013-01-09	2009-07-17	2009-07-17		ENSG00000176566		"WD repeat domain containing"	26657	protein-coding gene	gene with protein product			"WD repeat domain 21C"	WDR21C		14702039	Standard	NM_152418		Approved		uc003ydz.3	Q8NA75		ENST00000319675.3:c.1112G>A	8.37:g.88885088C>T	ENSP00000316496:p.Arg371His						p.R371H	NM_152418.3	NP_689631.1	Q8NA75	DC4L2_HUMAN			1	1208	-			371						Missense_Mutation	SNP	ENST00000319675.3	37	c.1112G>A	CCDS6245.1	.	.	.	.	.	.	.	.	.	.	C	14.67	2.604790	0.46423	.	.	ENSG00000176566	ENST00000319675	T	0.20881	2.04	1.37	-2.07	0.07276	.	0.476082	0.23175	N	0.051097	T	0.11836	0.0288	L	0.31294	0.92	0.29837	N	0.829553	B	0.18461	0.028	B	0.17979	0.02	T	0.07404	-1.0774	10	0.49607	T	0.09	.	5.7954	0.18383	0.0:0.3033:0.0:0.6967	.	371	Q8NA75	DC4L2_HUMAN	H	371	ENSP00000316496:R371H	ENSP00000316496:R371H	R	-	2	0	DCAF4L2	88954204	0.989000	0.36119	0.066000	0.19879	0.207000	0.24258	1.137000	0.31479	-0.640000	0.05495	-0.373000	0.07131	CGC		0.592	DCAF4L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375302.1	NM_152418		17	39	0	0	0	1	0	17	39					T	88885088	C	T	88885088	3	4	105	1	0	0	0	0	1	0	0	0	4272	768	27	1	79	1	DCAF4L2	8	88885088	Missense_Mutation	SNP	C	TCGA-EJ-7797-01A-11D-2260-08		88885088	57478934	27	5755											
FLJ46321	389763	broad.mit.edu	37	chr9	84607230	84607230	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccccagaacgaggcacggtcTcttttgccatctgaaattaa	11	10	8	12	2	2	2	0	1	2	1	3	3	2	2	3	2	2	1	3	2	3	3			TCGA-EJ-7797-01A-11D-2260-08	TCGA-EJ-7797-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4637e5f8-e2cb-48ac-8f87-ef89e3c37574	c5de444a-73e7-4ab5-a966-7865d0d139ec	g.chr9:84607230T>C	ENST00000344803.2	+	4	1892	c.1845T>C	c.(1843-1845)tcT>tcC	p.S615S		NM_001001670.2	NP_001001670.1	Q6ZQQ2	S31D1_HUMAN	SPATA31 subfamily D, member 1	615					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											AGGCACGGTCTCTTTTGCCAT	0.478																																						ENST00000344803.2																			0											c.(1843-1845)tcT>tcC		SPATA31 subfamily D, member 1							116	106	109					9																	84607230		1889	4119	6008	SO:0001819	synonymous_variant	389763							g.chr9:84607230T>C		CCDS47986.1	9q21.32	2012-10-12	2012-10-12	2012-10-12	ENSG00000214929	ENSG00000214929			37283	protein-coding gene	gene with protein product			"family with sequence similarity 75, member D1"	FAM75D1			Standard	NM_001001670		Approved	FLJ46321	uc004amn.3	Q6ZQQ2	OTTHUMG00000169122	ENST00000344803.2:c.1845T>C	9.37:g.84607230T>C							p.S615S	NM_001001670.2	NP_001001670.1					4	1892	+									Silent	SNP	ENST00000344803.2	37	c.1845T>C	CCDS47986.1																																																																																				0.478	SPATA31D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402325.1	NM_001001670		4	81	0	0	0	1	0	4	81					C	84607230	T	C	84607230	2	2	105	1	0	0	0	0	0	0	0	1	5932	1538	54	4		4	FLJ46321	9	84607230	Silent	SNP	T	TCGA-EJ-7797-01A-11D-2260-08		84607230	56606201	28	5756											
ZBTB6	10773	broad.mit.edu	37	chr9	125673324	125673324	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccatgtgtcctcggatgtgtCggttgagatttttcttctgt	4	18	11	8	2	2	1	0	1	2	1	5	3	3	2	2	2	0	1	2	2	0	4			TCGA-EJ-7797-01A-11D-2260-08	TCGA-EJ-7797-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4637e5f8-e2cb-48ac-8f87-ef89e3c37574	c5de444a-73e7-4ab5-a966-7865d0d139ec	g.chr9:125673324C>T	ENST00000373659.3	-	2	1116	c.1028G>A	c.(1027-1029)cGa>cAa	p.R343Q		NM_006626.5	NP_006617.1	Q15916	ZBTB6_HUMAN	zinc finger and BTB domain containing 6	343					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(3)|endometrium(3)|kidney(1)|large_intestine(2)|lung(1)|skin(1)	11						TCGGATGTGTCGGTTGAGATT	0.413																																						ENST00000373659.3																			0				breast(3)|endometrium(3)|kidney(1)|large_intestine(2)|lung(1)|skin(1)	11						c.(1027-1029)cGa>cAa		zinc finger and BTB domain containing 6							86	87	87					9																	125673324		2203	4300	6503	SO:0001583	missense	10773				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:125673324C>T	X82018	CCDS6846.1	9q33.1-q33.3	2013-01-08	2006-04-10	2006-04-10	ENSG00000186130	ENSG00000186130		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	16764	protein-coding gene	gene with protein product		605976	"zinc finger protein 482"	ZNF482		7958847	Standard	NM_006626		Approved	ZID	uc004bnh.4	Q15916	OTTHUMG00000020628	ENST00000373659.3:c.1028G>A	9.37:g.125673324C>T	ENSP00000362763:p.Arg343Gln						p.R343Q	NM_006626.5	NP_006617.1	Q15916	ZBTB6_HUMAN			2	1116	-			343					A8K8N6	Missense_Mutation	SNP	ENST00000373659.3	37	c.1028G>A	CCDS6846.1	.	.	.	.	.	.	.	.	.	.	C	28.5	4.929165	0.92389	.	.	ENSG00000186130	ENST00000373659	T	0.26223	1.75	5.87	5.87	0.94306	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.42086	0.1187	L	0.41356	1.27	0.58432	D	0.999991	D	0.89917	1.0	D	0.87578	0.998	T	0.02632	-1.1131	10	0.11794	T	0.64	.	19.5705	0.95413	0.0:1.0:0.0:0.0	.	343	Q15916	ZBTB6_HUMAN	Q	343	ENSP00000362763:R343Q	ENSP00000362763:R343Q	R	-	2	0	ZBTB6	124713145	1.000000	0.71417	0.983000	0.44433	0.967000	0.64934	5.919000	0.70005	2.941000	0.99782	0.655000	0.94253	CGA		0.413	ZBTB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053962.1	NM_006626		12	67	0	0	0	1	0	12	67					T	125673324	C	T	125673324	3	4	105	1	0	0	0	0	1	0	0	0	17549	884	31	2	250	2	ZBTB6	9	125673324	Missense_Mutation	SNP	C	TCGA-EJ-7797-01A-11D-2260-08	41066094	125673324	15540107	29	5757											
DPP7	29952	broad.mit.edu	37	chr9	140007905	140007905	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagcgcccccgccaccaggtGgggatacttcatcctcaggt	7	7	11	16	2	2	0	2	0	0	0	3	1	3	1	5	4	2	0	5	4	1	2			TCGA-EJ-7797-01A-11D-2260-08	TCGA-EJ-7797-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4637e5f8-e2cb-48ac-8f87-ef89e3c37574	c5de444a-73e7-4ab5-a966-7865d0d139ec	g.chr9:140007905G>A	ENST00000371579.2	-	5	533	c.529C>T	c.(529-531)Cac>Tac	p.H177Y		NM_013379.2	NP_037511.2	Q9UHL4	DPP2_HUMAN	dipeptidyl-peptidase 7	177						cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	dipeptidyl-peptidase activity (GO:0008239)|serine-type peptidase activity (GO:0008236)			endometrium(2)|large_intestine(2)|lung(1)|ovary(1)|skin(1)	7	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;4.25e-05)|Epithelial(140;0.000633)		GCCACCAGGTGGGGATACTTC	0.642																																						ENST00000371579.2																			0				endometrium(2)|large_intestine(2)|lung(1)|ovary(1)|skin(1)	7						c.(529-531)Cac>Tac		dipeptidyl-peptidase 7							28	32	31					9																	140007905		2197	4283	6480	SO:0001583	missense	29952					cytoplasmic membrane-bounded vesicle|extracellular region|lysosome	aminopeptidase activity|protein binding|serine-type peptidase activity	g.chr9:140007905G>A	AF154502	CCDS7030.1	9q34.3	2008-02-05	2006-01-12		ENSG00000176978	ENSG00000176978			14892	protein-coding gene	gene with protein product		610537	"dipeptidylpeptidase 7"			10477574, 11139392	Standard	XM_005266075		Approved	DPPII	uc004clh.3	Q9UHL4	OTTHUMG00000020977	ENST00000371579.2:c.529C>T	9.37:g.140007905G>A	ENSP00000360635:p.His177Tyr						p.H177Y	NM_013379.2	NP_037511.2	Q9UHL4	DPP2_HUMAN	STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;4.25e-05)|Epithelial(140;0.000633)	5	533	-	all_cancers(76;0.0926)		177					A8K7U7|Q5VSF1|Q969X4	Missense_Mutation	SNP	ENST00000371579.2	37	c.529C>T	CCDS7030.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	24.5|24.5	4.533502|4.533502	0.85812|0.85812	.|.	.|.	ENSG00000176978|ENSG00000176978	ENST00000371579|ENST00000443858	D|.	0.92446|.	-3.04|.	5.11|5.11	2.0|2.0	0.26442|0.26442	.|.	0.116150|.	0.56097|.	D|.	0.000032|.	T|T	0.52948|0.52948	0.1766|0.1766	M|M	0.86573|0.86573	2.825|2.825	0.32296|0.32296	N|N	0.565591|0.565591	D|B	0.76494|0.18461	0.999|0.028	D|B	0.75020|0.23574	0.985|0.047	T|T	0.62599|0.62599	-0.6820|-0.6820	10|8	0.66056|0.87932	D|D	0.02|0	-33.5159|-33.5159	2.5342|2.5342	0.04711|0.04711	0.103:0.1494:0.4957:0.2519|0.103:0.1494:0.4957:0.2519	.|.	177|200	Q9UHL4|E7EQS4	DPP2_HUMAN|.	Y|L	177|200	ENSP00000360635:H177Y|.	ENSP00000360635:H177Y|ENSP00000413492:P200L	H|P	-|-	1|2	0|0	DPP7|DPP7	139127726|139127726	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.945000|0.945000	0.59286|0.59286	1.840000|1.840000	0.39230|0.39230	1.165000|1.165000	0.42670|0.42670	0.561000|0.561000	0.74099|0.74099	CAC|CCA		0.642	DPP7-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055279.1	NM_013379		3	37	0	0	0	1	0	3	37					A	140007905	G	A	140007905	3	1	105	1	0	0	0	0	1	0	0	0	4731	1348	47	3	985	3	DPP7	9	140007905	Missense_Mutation	SNP	G	TCGA-EJ-7797-01A-11D-2260-08	14334581	140007905	1205526	30	5758											
ELOVL3	83401	broad.mit.edu	37	chr10	103986390	103986390	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgtccaaggacatgaggcccTttttcgaggagtattggtga	9	12	13	7	1	0	2	0	2	0	0	2	5	1	4	2	4	0	1	2	4	2	4			TCGA-EJ-7797-01A-11D-2260-08	TCGA-EJ-7797-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4637e5f8-e2cb-48ac-8f87-ef89e3c37574	c5de444a-73e7-4ab5-a966-7865d0d139ec	g.chr10:103986390T>C	ENST00000370005.3	+	1	306	c.85T>C	c.(85-87)Ttt>Ctt	p.F29L		NM_152310.1	NP_689523.1	Q9HB03	ELOV3_HUMAN	ELOVL fatty acid elongase 3	29					cellular lipid metabolic process (GO:0044255)|fatty acid elongation, monounsaturated fatty acid (GO:0034625)|fatty acid elongation, polyunsaturated fatty acid (GO:0034626)|fatty acid elongation, saturated fatty acid (GO:0019367)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|very long-chain fatty acid biosynthetic process (GO:0042761)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	transferase activity (GO:0016740)			breast(2)|lung(10)|ovary(2)|prostate(1)|skin(1)	16		Colorectal(252;0.207)		Epithelial(162;4.47e-08)|all cancers(201;7.96e-07)		CATGAGGCCCTTTTTCGAGGA	0.532																																						ENST00000370005.3																			0				breast(2)|lung(10)|ovary(2)|prostate(1)|skin(1)	16						c.(85-87)Ttt>Ctt		ELOVL fatty acid elongase 3							96	81	86					10																	103986390		2203	4300	6503	SO:0001583	missense	83401				fatty acid elongation, monounsaturated fatty acid|fatty acid elongation, polyunsaturated fatty acid|fatty acid elongation, saturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	fatty acid elongase activity|protein binding	g.chr10:103986390T>C	AF292387	CCDS7531.1	10q24	2011-05-25	2011-05-25		ENSG00000119915	ENSG00000119915			18047	protein-coding gene	gene with protein product		611815	"elongation of very long chain fatty acids (FEN1/Elo2, SUR4/Elo3, yeast)-like 3"				Standard	NM_152310		Approved	CIG-30	uc001kut.3	Q9HB03	OTTHUMG00000018951	ENST00000370005.3:c.85T>C	10.37:g.103986390T>C	ENSP00000359022:p.Phe29Leu						p.F29L	NM_152310.1	NP_689523.1	Q9HB03	ELOV3_HUMAN		Epithelial(162;4.47e-08)|all cancers(201;7.96e-07)	1	306	+		Colorectal(252;0.207)	29					Q5VZL3|Q8N180	Missense_Mutation	SNP	ENST00000370005.3	37	c.85T>C	CCDS7531.1	.	.	.	.	.	.	.	.	.	.	T	17.17	3.320295	0.60634	.	.	ENSG00000119915	ENST00000370005	T	0.20332	2.08	4.62	0.185	0.15096	.	0.296351	0.24674	N	0.036528	T	0.11367	0.0277	L	0.39245	1.2	0.09310	N	1	B	0.06786	0.001	B	0.12837	0.008	T	0.22695	-1.0209	10	0.15952	T	0.53	-3.7028	1.5214	0.02516	0.1643:0.107:0.1697:0.559	.	29	Q9HB03	ELOV3_HUMAN	L	29	ENSP00000359022:F29L	ENSP00000359022:F29L	F	+	1	0	ELOVL3	103976380	0.000000	0.05858	0.316000	0.25252	0.814000	0.46013	-0.012000	0.12699	0.195000	0.20347	0.459000	0.35465	TTT		0.532	ELOVL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050030.1	NM_152310		3	69	0	0	0	1	0	3	69					C	103986390	T	C	103986390	3	2	105	1	0	0	0	0	1	0	0	0	5075	1609	56	4	87	4	ELOVL3	10	103986390	Missense_Mutation	SNP	T	TCGA-EJ-7797-01A-11D-2260-08		103986390	31548357	31	5759											
PAMR1	25891	broad.mit.edu	37	chr11	35515710	35515710	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaagggatggtataacccaCgacttccctctttccggggc	8	9	11	13	2	1	0	0	0	1	0	3	2	3	1	3	4	1	2	3	4	3	4			TCGA-EJ-7797-01A-11D-2260-08	TCGA-EJ-7797-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4637e5f8-e2cb-48ac-8f87-ef89e3c37574	c5de444a-73e7-4ab5-a966-7865d0d139ec	g.chr11:35515710C>T	ENST00000378880.2	-	2	629	c.184G>A	c.(184-186)Gtg>Atg	p.V62M	PAMR1_ENST00000378878.3_Missense_Mutation_p.V62M|PAMR1_ENST00000534803.1_5'UTR|PAMR1_ENST00000278360.3_Missense_Mutation_p.V62M|PAMR1_ENST00000532848.1_Missense_Mutation_p.V22M	NM_001001991.1	NP_001001991.1	Q6UXH9	PAMR1_HUMAN	peptidase domain containing associated with muscle regeneration 1	62	Cys-rich.					extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)	p.V62M(1)		breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	26						GTATAACCCACGACTTCCCTC	0.522																																						ENST00000378880.2																			1	Substitution - Missense(1)	p.V62M(1)	endometrium(1)	breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	26						c.(184-186)Gtg>Atg		peptidase domain containing associated with muscle regeneration 1							250	182	205					11																	35515710		2202	4298	6500	SO:0001583	missense	25891				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr11:35515710C>T		CCDS7898.1, CCDS31460.1, CCDS60759.1, CCDS60760.1	11p13	2009-09-30			ENSG00000149090	ENSG00000149090			24554	protein-coding gene	gene with protein product	"regeneration-associated muscle protease"					15111323	Standard	NM_001282675		Approved	RAMP, DKFZP586H2123	uc001mwf.3	Q6UXH9	OTTHUMG00000166328	ENST00000378880.2:c.184G>A	11.37:g.35515710C>T	ENSP00000368158:p.Val62Met					PAMR1_ENST00000278360.3_Missense_Mutation_p.V62M|PAMR1_ENST00000534803.1_5'UTR|PAMR1_ENST00000378878.3_Missense_Mutation_p.V62M|PAMR1_ENST00000532848.1_Missense_Mutation_p.V22M	p.V62M	NM_001001991.1	NP_001001991.1	Q6UXH9	PAMR1_HUMAN			2	629	-			62			Cys-rich.		A8MQ58|B7ZA73|Q5EBL7|Q5JPI4|Q6N062|Q71RE9|Q96JW2|Q9Y432	Missense_Mutation	SNP	ENST00000378880.2	37	c.184G>A	CCDS31460.1	.	.	.	.	.	.	.	.	.	.	C	17.06	3.291209	0.59976	.	.	ENSG00000149090	ENST00000278360;ENST00000378880;ENST00000378878;ENST00000532848;ENST00000527605;ENST00000529303	D;D;D;D;D;D	0.92911	-2.5;-2.53;-2.91;-2.44;-2.46;-3.13	4.72	4.72	0.59763	.	0.145674	0.44688	D	0.000421	D	0.93200	0.7834	L	0.27053	0.805	0.26082	N	0.98108	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.80764	0.972;0.994;0.987	D	0.88520	0.3095	10	0.87932	D	0	.	17.6665	0.88203	0.0:1.0:0.0:0.0	.	62;62;62	A8MQ58;Q6UXH9;Q6UXH9-2	.;PAMR1_HUMAN;.	M	62;62;62;22;22;62	ENSP00000278360:V62M;ENSP00000368158:V62M;ENSP00000368156:V62M;ENSP00000433868:V22M;ENSP00000432591:V22M;ENSP00000433024:V62M	ENSP00000278360:V62M	V	-	1	0	PAMR1	35472286	1.000000	0.71417	0.955000	0.39395	0.370000	0.29829	4.852000	0.62904	2.174000	0.68829	0.462000	0.41574	GTG		0.522	PAMR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389177.1	NM_015430		3	125	0	0	0	1	0	3	125					T	35515710	C	T	35515710	3	4	105	1	0	0	0	0	1	0	0	0	11413	536	19	1	2073	1	PAMR1	11	35515710	Missense_Mutation	SNP	C	TCGA-EJ-7797-01A-11D-2260-08		35515710	99490806	32	5760											
TMX2	51075	broad.mit.edu	37	chr11	57506220	57506220	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	actgccaatcatttgcccctAtctatgctgacctctccctt	7	14	4	16	0	3	1	1	1	2	0	4	1	3	1	5	0	3	1	5	0	3	4	rs372453729		TCGA-EJ-7797-01A-11D-2260-08	TCGA-EJ-7797-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4637e5f8-e2cb-48ac-8f87-ef89e3c37574	c5de444a-73e7-4ab5-a966-7865d0d139ec	g.chr11:57506220A>G	ENST00000278422.4	+	5	538	c.526A>G	c.(526-528)Atc>Gtc	p.I176V	C11orf31_ENST00000388857.4_5'Flank|TMX2-CTNND1_ENST00000528395.1_Intron|C11orf31_ENST00000534355.1_5'Flank|TMX2_ENST00000378312.4_Missense_Mutation_p.I138V	NM_015959.3	NP_057043.1	Q9Y320	TMX2_HUMAN	thioredoxin-related transmembrane protein 2	176	Thioredoxin. {ECO:0000255|PROSITE- ProRule:PRU00691}.				cell redox homeostasis (GO:0045454)	integral component of membrane (GO:0016021)				NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|urinary_tract(2)	12						ATTTGCCCCTATCTATGCTGA	0.473																																						ENST00000278422.4																			0				NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|urinary_tract(2)	12						c.(526-528)Atc>Gtc		thioredoxin-related transmembrane protein 2		A	VAL/ILE,VAL/ILE	0,4402		0,0,2201	175	160	165		412,526	5.9	1	11		165	1,8591	1.2+/-3.3	0,1,4295	no	missense,missense	TMX2	NM_001144012.2,NM_015959.3	29,29	0,1,6496	GG,GA,AA		0.0116,0.0,0.0077	benign,benign	138/259,176/297	57506220	1,12993	2201	4296	6497	SO:0001583	missense	51075				cell redox homeostasis	integral to membrane		g.chr11:57506220A>G	AF132965	CCDS7967.1, CCDS44601.1	11q12.1	2012-09-20	2009-02-23	2009-02-23	ENSG00000213593	ENSG00000213593		"Protein disulfide isomerases"	30739	protein-coding gene	gene with protein product	"protein disulfide isomerase family A, member 12"		"thioredoxin domain containing 14"	TXNDC14		12670024	Standard	NM_015959		Approved	PDIA12	uc001nlc.2	Q9Y320	OTTHUMG00000167200	ENST00000278422.4:c.526A>G	11.37:g.57506220A>G	ENSP00000278422:p.Ile176Val					TMX2-CTNND1_ENST00000528395.1_Intron|TMX2_ENST00000378312.4_Missense_Mutation_p.I138V	p.I176V	NM_015959.3	NP_057043.1	Q9Y320	TMX2_HUMAN			5	538	+			176			Thioredoxin.		B7Z4R4|Q53G73|Q561W0|Q5J7Q7|Q8NBP9|Q9H3L1	Missense_Mutation	SNP	ENST00000278422.4	37	c.526A>G	CCDS7967.1	.	.	.	.	.	.	.	.	.	.	A	7.805	0.714519	0.15306	0.0	1.16E-4	ENSG00000213593	ENST00000378312;ENST00000278422	T;T	0.21191	2.02;2.02	5.95	5.95	0.96441	Thioredoxin domain (1);Thioredoxin-like fold (3);	0.131333	0.50627	U	0.000102	T	0.12987	0.0315	N	0.16166	0.38	0.48696	D	0.999695	B;B	0.06786	0.0;0.001	B;B	0.13407	0.003;0.009	T	0.10590	-1.0623	10	0.07990	T	0.79	-9.9816	16.0852	0.81042	1.0:0.0:0.0:0.0	.	138;176	Q9Y320-2;Q9Y320	.;TMX2_HUMAN	V	138;176	ENSP00000367562:I138V;ENSP00000278422:I176V	ENSP00000278422:I176V	I	+	1	0	TMX2	57262796	0.998000	0.40836	1.000000	0.80357	0.987000	0.75469	3.782000	0.55401	2.279000	0.76181	0.533000	0.62120	ATC		0.473	TMX2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393708.1	NM_015959		32	155	0	0	0	1	0	32	155					G	57506220	A	G	57506220	3	3	105	1	0	0	0	0	1	0	0	0	16264	449	16	4	544	4	TMX2	11	57506220	Missense_Mutation	SNP	A	TCGA-EJ-7797-01A-11D-2260-08	21990510	57506220	77500296	33	5761											
BBS1	582	broad.mit.edu	37	chr11	66291013	66291013	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caaggtcctagtggtgggcaGcacccaagacagcctgcatg	10	6	13	12	0	0	1	0	0	0	1	1	1	1	1	3	3	3	3	3	3	3	1			TCGA-EJ-7797-01A-11D-2260-08	TCGA-EJ-7797-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4637e5f8-e2cb-48ac-8f87-ef89e3c37574	c5de444a-73e7-4ab5-a966-7865d0d139ec	g.chr11:66291013G>A	ENST00000318312.7	+	10	968	c.917G>A	c.(916-918)aGc>aAc	p.S306N	BBS1_ENST00000455748.2_Missense_Mutation_p.S209N|BBS1_ENST00000529766.1_3'UTR|BBS1_ENST00000393994.2_Intron|CTD-3074O7.11_ENST00000419755.3_Missense_Mutation_p.S343N|ZDHHC24_ENST00000526986.1_Intron	NM_024649.4	NP_078925.3	Q8NFJ9	BBS1_HUMAN	Bardet-Biedl syndrome 1	306					cilium assembly (GO:0042384)|Golgi to plasma membrane protein transport (GO:0043001)|nonmotile primary cilium assembly (GO:0035058)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|retina homeostasis (GO:0001895)|visual perception (GO:0007601)	BBSome (GO:0034464)|cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)	patched binding (GO:0005113)|RNA polymerase II repressing transcription factor binding (GO:0001103)|smoothened binding (GO:0005119)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|kidney(5)|large_intestine(5)|lung(5)|ovary(1)|prostate(2)|skin(2)|stomach(2)|urinary_tract(1)	28						GTGGTGGGCAGCACCCAAGAC	0.597									Bardet-Biedl syndrome																												GBM(152;173 2612 9770 10137)	ENST00000419755.3																			0											c.(1027-1029)aGc>aAc									67	64	65					11																	66291013		2200	4295	6495	SO:0001583	missense	0		Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome				g.chr11:66291013G>A	AF503941	CCDS8142.1	11q13	2013-01-08			ENSG00000174483	ENSG00000174483			966	protein-coding gene	gene with protein product		209901				9039982, 12567324	Standard	NM_024649		Approved	FLJ23590	uc001oij.1	Q8NFJ9	OTTHUMG00000167110	ENST00000318312.7:c.917G>A	11.37:g.66291013G>A	ENSP00000317469:p.Ser306Asn					BBS1_ENST00000318312.7_Missense_Mutation_p.S306N|ZDHHC24_ENST00000526986.1_Intron|BBS1_ENST00000529766.1_3'UTR|BBS1_ENST00000393994.2_Intron|BBS1_ENST00000455748.2_Missense_Mutation_p.S209N	p.S343N							10	1106	+								Q32MM9|Q32MN0|Q96SN4	Missense_Mutation	SNP	ENST00000318312.7	37	c.1028G>A	CCDS8142.1	.	.	.	.	.	.	.	.	.	.	G	17.39	3.377842	0.61735	.	.	ENSG00000256349;ENSG00000174483;ENSG00000174483	ENST00000419755;ENST00000318312;ENST00000455748	T;T;T	0.60548	0.18;0.18;0.18	5.32	4.4	0.53042	WD40/YVTN repeat-like-containing domain (1);Quinonprotein alcohol dehydrogenase-like (1);	.	.	.	.	T	0.52517	0.1739	L	0.46157	1.445	0.80722	D	1	P;P;P;P	0.51351	0.944;0.589;0.589;0.589	B;B;B;B	0.44163	0.443;0.211;0.117;0.164	T	0.55425	-0.8143	9	0.54805	T	0.06	.	11.6576	0.51328	0.0:0.1991:0.8009:0.0	.	209;194;306;343	E7EQH1;Q4G0L2;Q8NFJ9;Q8NFJ9-2	.;.;BBS1_HUMAN;.	N	343;306;209	ENSP00000398526:S343N;ENSP00000317469:S306N;ENSP00000405764:S209N	ENSP00000317469:S306N	S	+	2	0	BBS1;CTD-3074O7.11	66047589	1.000000	0.71417	1.000000	0.80357	0.892000	0.51952	4.632000	0.61311	1.216000	0.43427	0.655000	0.94253	AGC		0.597	BBS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393235.2			3	82	0	0	0	1	0	3	82					A	66291013	G	A	66291013	3	1	105	1	0	0	0	0	1	0	0	0	1335	971	34	3	955	3	BBS1	11	66291013	Missense_Mutation	SNP	G	TCGA-EJ-7797-01A-11D-2260-08	8784793	66291013	68715503	34	5762											
FAT3	120114	broad.mit.edu	37	chr11	92088411	92088411	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tccacactccctatttcccaGactttgctgttgttggatct	6	16	6	13	0	1	1	0	0	1	1	4	2	4	2	3	1	1	3	3	1	1	5			TCGA-EJ-7797-01A-11D-2260-08	TCGA-EJ-7797-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4637e5f8-e2cb-48ac-8f87-ef89e3c37574	c5de444a-73e7-4ab5-a966-7865d0d139ec	g.chr11:92088411G>A	ENST00000298047.6	+	1	3150	c.3133G>A	c.(3133-3135)Gac>Aac	p.D1045N	FAT3_ENST00000541502.1_Missense_Mutation_p.D1045N|FAT3_ENST00000409404.2_Missense_Mutation_p.D1045N|FAT3_ENST00000525166.1_Missense_Mutation_p.D895N			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	1045	Cadherin 10. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				CTATTTCCCAGACTTTGCTGT	0.498										TCGA Ovarian(4;0.039)																												ENST00000298047.6																			0				NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85						c.(3133-3135)Gac>Aac		FAT atypical cadherin 3							100	98	99					11																	92088411		1979	4155	6134	SO:0001583	missense	120114				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr11:92088411G>A	AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"Cadherins / Cadherin-related"	23112	protein-coding gene	gene with protein product	"cadherin-related family member 10"	612483	"FAT tumor suppressor homolog 3 (Drosophila)"			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.3133G>A	11.37:g.92088411G>A	ENSP00000298047:p.Asp1045Asn	TCGA Ovarian(4;0.039)				FAT3_ENST00000409404.2_Missense_Mutation_p.D1045N|FAT3_ENST00000541502.1_Missense_Mutation_p.D1045N|FAT3_ENST00000525166.1_Missense_Mutation_p.D895N	p.D1045N			Q8TDW7	FAT3_HUMAN			1	3150	+		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)	1045			Cadherin 10.		B5MDB0|Q96AU6	Missense_Mutation	SNP	ENST00000298047.6	37	c.3133G>A		.	.	.	.	.	.	.	.	.	.	G	16.21	3.060184	0.55432	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000541502;ENST00000525166	T;T;T;T	0.60171	4.67;4.67;0.21;4.67	5.86	5.86	0.93980	.	.	.	.	.	T	0.50497	0.1619	N	0.14661	0.345	0.37352	D	0.91085	D	0.53745	0.962	P	0.50082	0.63	T	0.48692	-0.9013	9	0.16420	T	0.52	.	19.1684	0.93567	0.0:0.0:1.0:0.0	.	1045	Q8TDW7-3	.	N	1045;1045;1045;895	ENSP00000298047:D1045N;ENSP00000387040:D1045N;ENSP00000443786:D1045N;ENSP00000432586:D895N	ENSP00000298047:D1045N	D	+	1	0	FAT3	91728059	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.586000	0.53950	2.777000	0.95525	0.655000	0.94253	GAC		0.498	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781		4	53	0	0	0	1	0	4	53					A	92088411	G	A	92088411	3	1	105	1	0	0	0	0	1	0	0	0	5691	942	33	3	3135	3	FAT3	11	92088411	Missense_Mutation	SNP	G	TCGA-EJ-7797-01A-11D-2260-08	25797398	92088411	42918105	35	5763											
FOLR4	390243	broad.mit.edu	37	chr11	94040719	94040719	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgagcgacggaacagtgggcGgtgtctccagaagtggtttg	8	9	17	7	3	1	2	0	1	1	1	2	4	1	3	1	4	2	1	1	4	2	1	rs201445396		TCGA-EJ-7797-01A-11D-2260-08	TCGA-EJ-7797-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4637e5f8-e2cb-48ac-8f87-ef89e3c37574	c5de444a-73e7-4ab5-a966-7865d0d139ec	g.chr11:94040719G>A	ENST00000440961.2	+	4	637	c.593G>A	c.(592-594)cGg>cAg	p.R198Q		NM_001199206.1	NP_001186135.1	A6ND01	JUNO_HUMAN	folate receptor 4, delta (putative)	205					cell adhesion (GO:0007155)|fusion of sperm to egg plasma membrane (GO:0007342)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	14						AACAGTGGGCGGTGTCTCCAG	0.602																																						ENST00000440961.2																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	14						c.(592-594)cGg>cAg		folate receptor 4, delta (putative)		G	GLN/ARG	1,4053		0,1,2026	125	132	130		614	-0.8	0	11		130	0,8350		0,0,4175	yes	missense	FOLR4	NM_001199206.1	43	0,1,6201	AA,AG,GG		0.0,0.0247,0.0081	benign	205/251	94040719	1,12403	2027	4175	6202	SO:0001583	missense	390243					extracellular region	folic acid binding|receptor activity	g.chr11:94040719G>A			11q14	2014-07-23	2012-12-07		ENSG00000183560	ENSG00000183560			32565	protein-coding gene	gene with protein product		615737	"folate receptor 4 (delta) homolog (mouse)"			11111049, 24739963	Standard	NM_001199206		Approved	Folbp3, JUNO	uc021qou.1	A6ND01		ENST00000440961.2:c.593G>A	11.37:g.94040719G>A	ENSP00000416935:p.Arg198Gln						p.R198Q	NM_001199206.1	NP_001186135.1	A6ND01	FOLR4_HUMAN			4	637	+			205						Missense_Mutation	SNP	ENST00000440961.2	37	c.593G>A		.	.	.	.	.	.	.	.	.	.	G	15.03	2.713095	0.48517	2.47E-4	0.0	ENSG00000183560	ENST00000440961	T	0.76968	-1.06	4.33	-0.778	0.10977	.	0.121271	0.56097	N	0.000030	T	0.67325	0.2881	L	0.52823	1.66	0.24072	N	0.995975	P	0.46952	0.887	B	0.40982	0.345	T	0.61287	-0.7093	10	0.36615	T	0.2	-15.3271	8.6191	0.33851	0.4558:0.0:0.5442:0.0	.	198	A6ND01-2	.	Q	198	ENSP00000416935:R198Q	ENSP00000416935:R198Q	R	+	2	0	FOLR4	93680367	0.001000	0.12720	0.002000	0.10522	0.947000	0.59692	0.433000	0.21477	-0.015000	0.14150	-0.327000	0.08410	CGG		0.602	FOLR4-002	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000396420.1	NM_001080486		4	150	0	0	0	1	0	4	150					A	94040719	G	A	94040719	3	1	105	1	0	0	0	0	1	0	0	0	5984	1116	39	2	607	2	FOLR4	11	94040719	Missense_Mutation	SNP	G	TCGA-EJ-7797-01A-11D-2260-08	1952308	94040719	40965797	36	5764											
KCNA5	3741	broad.mit.edu	37	chr12	5155075	5155075	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccccctagagaagtgtaacGtcaaggccaagagcaacgtg	13	5	12	11	2	1	2	1	0	0	2	1	3	1	2	3	1	3	2	3	1	6	2			TCGA-EJ-7797-01A-11D-2260-08	TCGA-EJ-7797-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4637e5f8-e2cb-48ac-8f87-ef89e3c37574	c5de444a-73e7-4ab5-a966-7865d0d139ec	g.chr12:5155075G>A	ENST00000252321.3	+	1	1991	c.1762G>A	c.(1762-1764)Gtc>Atc	p.V588I		NM_002234.3	NP_002225.2	P22460	KCNA5_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 5	588					atrial cardiac muscle cell action potential (GO:0086014)|membrane hyperpolarization (GO:0060081)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|negative regulation of potassium ion transport (GO:0043267)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of myoblast proliferation (GO:2000288)|potassium ion export (GO:0071435)|potassium ion homeostasis (GO:0055075)|potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of insulin secretion (GO:0050796)|regulation of membrane potential (GO:0042391)|regulation of potassium ion transport (GO:0043266)|regulation of vasoconstriction (GO:0019229)|response to hypoxia (GO:0001666)|synaptic transmission (GO:0007268)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|intracellular canaliculus (GO:0046691)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|delayed rectifier potassium channel activity (GO:0005251)|outward rectifier potassium channel activity (GO:0015271)|potassium channel inhibitor activity (GO:0019870)|protein kinase binding (GO:0019901)|scaffold protein binding (GO:0097110)|voltage-gated potassium channel activity involved in atrial cardiac muscle cell action potential repolarization (GO:0086089)			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(1)|lung(21)|ovary(5)|prostate(2)|upper_aerodigestive_tract(2)	52					Dalfampridine(DB06637)	GAAGTGTAACGTCAAGGCCAA	0.592																																						ENST00000252321.3																			0				NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(1)|lung(21)|ovary(5)|prostate(2)|upper_aerodigestive_tract(2)	52						c.(1762-1764)Gtc>Atc		potassium voltage-gated channel, shaker-related subfamily, member 5							39	39	39					12																	5155075		2203	4300	6503	SO:0001583	missense	3741					Golgi apparatus|voltage-gated potassium channel complex	delayed rectifier potassium channel activity	g.chr12:5155075G>A	M83254	CCDS8536.1	12p13	2012-07-05				ENSG00000130037		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6224	protein-coding gene	gene with protein product		176267				16382104	Standard	NM_002234		Approved	Kv1.5, HK2, HPCN1	uc001qni.4	P22460		ENST00000252321.3:c.1762G>A	12.37:g.5155075G>A	ENSP00000252321:p.Val588Ile						p.V588I	NM_002234.3	NP_002225.2	P22460	KCNA5_HUMAN			1	1991	+			588					Q4KKT8|Q4VAJ1|Q4VAJ2|Q9UDA4	Missense_Mutation	SNP	ENST00000252321.3	37	c.1762G>A	CCDS8536.1	.	.	.	.	.	.	.	.	.	.	G	7.036	0.561517	0.13498	.	.	ENSG00000130037	ENST00000252321	D	0.97279	-4.32	5.5	3.64	0.41730	.	0.104471	0.38492	U	0.001664	D	0.87665	0.6234	N	0.01352	-0.895	0.21445	N	0.999687	B	0.06786	0.001	B	0.04013	0.001	T	0.78513	-0.2175	10	0.24483	T	0.36	.	9.733	0.40372	0.2849:0.5814:0.1337:0.0	.	588	P22460	KCNA5_HUMAN	I	588	ENSP00000252321:V588I	ENSP00000252321:V588I	V	+	1	0	KCNA5	5025336	0.990000	0.36364	1.000000	0.80357	0.936000	0.57629	0.640000	0.24705	0.668000	0.31126	-0.311000	0.09066	GTC		0.592	KCNA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398925.2	NM_002234		3	27	0	0	0	1	0	3	27					A	5155075	G	A	5155075	3	1	105	1	0	0	0	0	1	0	0	0	8006	1145	40	1	1764	1	KCNA5	12	5155075	Missense_Mutation	SNP	G	TCGA-EJ-7797-01A-11D-2260-08		5155075	128696820	37	5765											
JAG2	3714	broad.mit.edu	37	chr14	105615582	105615582	+	Frame_Shift_Del	DEL	A	A	-																															aaagtcatcagggcaggcgcAgtaatagtcaccctccaggt																										TCGA-EJ-7797-01A-11D-2260-08	TCGA-EJ-7797-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4637e5f8-e2cb-48ac-8f87-ef89e3c37574	c5de444a-73e7-4ab5-a966-7865d0d139ec	g.chr14:105615582delA	ENST00000331782.3	-	13	2081	c.1678delT	c.(1678-1680)tgcfs	p.C560fs	JAG2_ENST00000347004.2_Frame_Shift_Del_p.C522fs|RP11-44N21.4_ENST00000548203.1_RNA	NM_002226.4	NP_002217.3	Q9Y219	JAG2_HUMAN	jagged 2	560	EGF-like 9. {ECO:0000255|PROSITE- ProRule:PRU00076}.				auditory receptor cell fate commitment (GO:0009912)|cell cycle (GO:0007049)|cell differentiation (GO:0030154)|epithelial cell apoptotic process involved in palatal shelf morphogenesis (GO:1990134)|gamma-delta T cell differentiation (GO:0042492)|in utero embryonic development (GO:0001701)|morphogenesis of embryonic epithelium (GO:0016331)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|odontogenesis of dentin-containing tooth (GO:0042475)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|respiratory system process (GO:0003016)|skeletal system development (GO:0001501)|spermatogenesis (GO:0007283)|T cell differentiation (GO:0030217)|thymic T cell selection (GO:0045061)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|growth factor activity (GO:0008083)|Notch binding (GO:0005112)			breast(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(7)|prostate(2)|skin(5)	22		all_cancers(154;0.0336)|all_epithelial(191;0.0729)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00989)|all cancers(16;0.0114)|Epithelial(46;0.0272)	Epithelial(152;0.047)|OV - Ovarian serous cystadenocarcinoma(161;0.148)|all cancers(159;0.208)		GGGCAGGCGCAGTAATAGTCA	0.662																																						ENST00000331782.3																			0				breast(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(7)|prostate(2)|skin(5)	22						c.(1678-1680)gcfs		jagged 2							105	108	107					14																	105615582		2203	4300	6503	SO:0001589	frameshift_variant	3714				auditory receptor cell fate commitment|cell communication|cell cycle|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation|spermatogenesis|thymic T cell selection	integral to plasma membrane	calcium ion binding|growth factor activity|Notch binding	g.chr14:105615582delA	AF020201	CCDS9998.1, CCDS9999.1	14q32	2008-08-01			ENSG00000184916	ENSG00000184916			6189	protein-coding gene	gene with protein product		602570				9315665, 10662552	Standard	NM_002226		Approved		uc001yqg.4	Q9Y219	OTTHUMG00000140172	ENST00000331782.3:c.1678delT	14.37:g.105615582delA	ENSP00000328169:p.Cys560fs					JAG2_ENST00000347004.2_Frame_Shift_Del_p.C522fs	p.C560fs	NM_002226.4	NP_002217.3	Q9Y219	JAG2_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.00989)|all cancers(16;0.0114)|Epithelial(46;0.0272)	Epithelial(152;0.047)|OV - Ovarian serous cystadenocarcinoma(161;0.148)|all cancers(159;0.208)	13	2081	-		all_cancers(154;0.0336)|all_epithelial(191;0.0729)|Melanoma(154;0.155)	560			EGF-like 9.		Q9UE17|Q9UE99|Q9UNK8|Q9Y6P9|Q9Y6Q0	Frame_Shift_Del	DEL	ENST00000331782.3	37	c.1678delT	CCDS9998.1																																																																																				0.662	JAG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276506.2			62	334						62	334	---	---	---	---	-	105615582	A	-	105615582	7	5	105	1	0	1	0	1	0	0	0	0	7935	188	7	0	2094	0	JAG2	14	105615582	Frame_Shift_Del	DEL	A	TCGA-EJ-7797-01A-11D-2260-08		105615582	1733958	38	5766											
FMN1	342184	broad.mit.edu	37	chr15	33261113	33261114	+	Frame_Shift_Ins	INS	-	-	G																															tggggcaggggagttaggaaINSgtgggggtgggggtgggggt																										TCGA-EJ-7797-01A-11D-2260-08	TCGA-EJ-7797-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4637e5f8-e2cb-48ac-8f87-ef89e3c37574	c5de444a-73e7-4ab5-a966-7865d0d139ec	g.chr15:33261113_33261114insG	ENST00000559047.1	-	5	2787_2788	c.2788_2789insC	c.(2788-2790)cttfs	p.L930fs	FMN1_ENST00000334528.9_Frame_Shift_Ins_p.L707fs|SNORD77_ENST00000391113.1_RNA|FMN1_ENST00000561249.1_Frame_Shift_Ins_p.L832fs			Q68DA7	FMN1_HUMAN	formin 1	930	FH1.|Pro-rich.				actin nucleation (GO:0045010)	actin filament (GO:0005884)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|upper_aerodigestive_tract(3)	29		all_lung(180;1.14e-07)		all cancers(64;3.05e-15)|Epithelial(43;1.67e-10)|GBM - Glioblastoma multiforme(186;4.95e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0262)		GGAGTTAGGAAgtgggggtggg	0.663																																						ENST00000334528.9																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|upper_aerodigestive_tract(3)	29						c.(2119-2121)tccfs		formin 1																																				SO:0001589	frameshift_variant	342184				actin cytoskeleton organization	actin cytoskeleton|adherens junction|cytoplasm|nucleus	actin binding	g.chr15:33261113_33261114insG	AH002864	CCDS45209.1, CCDS61581.1, CCDS61582.1	15q13.3	2013-06-13	2005-01-20	2005-01-22	ENSG00000248905	ENSG00000248905			3768	protein-coding gene	gene with protein product	"limb deformity protein"	136535	"formin (limb deformity)"	LD, FMN		1673046	Standard	NM_001277313		Approved	DKFZP686C2281, FLJ45135, MGC125288, MGC125289	uc031qrh.1	Q68DA7	OTTHUMG00000172201	ENST00000559047.1:c.2789dupC	15.37:g.33261114_33261114dupG	ENSP00000454047:p.Leu930fs					FMN1_ENST00000559047.1_Frame_Shift_Ins_p.S930fs|FMN1_ENST00000561249.1_Frame_Shift_Ins_p.S832fs	p.S707fs	NM_001103184.2	NP_001096654.1	Q68DA7	FMN1_HUMAN		all cancers(64;3.05e-15)|Epithelial(43;1.67e-10)|GBM - Glioblastoma multiforme(186;4.95e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0262)	4	2118_2119	-		all_lung(180;1.14e-07)	930			Mediates interaction with alpha-catenin (By similarity).		Q3B7I6|Q3ZAR4|Q6ZSY1	Frame_Shift_Ins	INS	ENST00000559047.1	37	c.2119_2120insC																																																																																					0.663	FMN1-005	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000417414.1	NM_001103184		3	6						3	6	---	---	---	---	G	33261114	-	G	33261113	7	5	105	1	0	1	1	0	0	0	0	0	5949	72	3	0	1526	0	FMN1	15	33261113	Frame_Shift_Ins	INS	-	TCGA-EJ-7797-01A-11D-2260-08		33261113	69270279	39	5767											
C15orf55	256646	broad.mit.edu	37	chr15	34648411	34648411	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	agttatgatcagaatccttcCcctagagcagctggggagag	11	9	12	9	0	1	4	1	1	0	3	3	5	3	4	3	2	2	3	3	2	3	3			TCGA-EJ-7797-01A-11D-2260-08	TCGA-EJ-7797-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4637e5f8-e2cb-48ac-8f87-ef89e3c37574	c5de444a-73e7-4ab5-a966-7865d0d139ec	g.chr15:34648411C>A	ENST00000333756.4	+	7	2273	c.2118C>A	c.(2116-2118)tcC>tcA	p.S706S	NUTM1_ENST00000438749.3_Silent_p.S724S|NUTM1_ENST00000537011.1_Silent_p.S734S	NM_175741.1	NP_786883	Q86Y26	NUTM1_HUMAN	NUT midline carcinoma, family member 1	706						cytoplasm (GO:0005737)|nucleus (GO:0005634)											AGAATCCTTCCCCTAGAGCAG	0.557																																						ENST00000537011.1																			0											c.(2200-2202)tcC>tcA		NUT midline carcinoma, family member 1							44	45	44					15																	34648411		2201	4298	6499	SO:0001819	synonymous_variant	256646							g.chr15:34648411C>A	AF482429	CCDS32190.1, CCDS61584.1, CCDS61585.1	15q14	2014-01-28	2013-03-14	2013-03-14	ENSG00000184507	ENSG00000184507			29919	protein-coding gene	gene with protein product	"nuclear protein in testis"	608963	"chromosome 15 open reading frame 55"	C15orf55		12543779	Standard	NM_175741		Approved	NUT, DKFZp434O192, FAM22H	uc001zif.3	Q86Y26	OTTHUMG00000172348	ENST00000333756.4:c.2118C>A	15.37:g.34648411C>A						NUTM1_ENST00000333756.4_Silent_p.S706S|NUTM1_ENST00000438749.3_Silent_p.S724S	p.S734S							8	2584	+								B4DZ00|B7Z7Y4|E7EVE8|F5H4I6|Q86YS8|Q8N7F2|Q9NTB3	Silent	SNP	ENST00000333756.4	37	c.2202C>A	CCDS32190.1																																																																																				0.557	NUTM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418026.1	NM_175741		12	40	1	0	2.80697e-09	1	3.17771e-09	12	40					A	34648411	C	A	34648411	2	1	105	1	0	0	0	0	0	0	0	1	1803	610	22	5		5	C15orf55	15	34648411	Silent	SNP	C	TCGA-EJ-7797-01A-11D-2260-08	1387298	34648411	67882981	40	5768											
MAPKBP1	23005	broad.mit.edu	37	chr15	42105829	42105829	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctgcccacagaccacagtggCccactgcatctctgtgagcc	8	7	9	17	0	1	2	0	1	1	1	2	2	1	2	4	1	3	1	4	1	0	0			TCGA-EJ-7797-01A-11D-2260-08	TCGA-EJ-7797-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4637e5f8-e2cb-48ac-8f87-ef89e3c37574	c5de444a-73e7-4ab5-a966-7865d0d139ec	g.chr15:42105829C>A	ENST00000456763.2	+	10	1044	c.848C>A	c.(847-849)gCc>gAc	p.A283D	MAPKBP1_ENST00000457542.2_Missense_Mutation_p.A277D|MAPKBP1_ENST00000260357.7_Missense_Mutation_p.A165D|MAPKBP1_ENST00000221214.6_Intron|MAPKBP1_ENST00000514566.1_Missense_Mutation_p.A277D	NM_001128608.1	NP_001122080.1	O60336	MABP1_HUMAN	mitogen-activated protein kinase binding protein 1	283										breast(6)|central_nervous_system(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.95e-17)|GBM - Glioblastoma multiforme(94;5.71e-07)|Lung(196;0.0436)|BRCA - Breast invasive adenocarcinoma(123;0.203)|LUSC - Lung squamous cell carcinoma(244;0.225)		ACCACAGTGGCCCACTGCATC	0.582																																						ENST00000457542.2																			0				breast(6)|central_nervous_system(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56						c.(829-831)gCc>gAc		mitogen-activated protein kinase binding protein 1							151	133	139					15																	42105829		2203	4300	6503	SO:0001583	missense	23005							g.chr15:42105829C>A	AB011168	CCDS32201.1, CCDS45239.1, CCDS58359.1	15q15.1	2013-01-10	2008-01-30		ENSG00000137802	ENSG00000137802		"WD repeat domain containing"	29536	protein-coding gene	gene with protein product			"mitogen activated protein kinase binding protein 1"			9628581, 10471813	Standard	NM_014994		Approved	KIAA0596	uc001zok.4	O60336	OTTHUMG00000160227	ENST00000456763.2:c.848C>A	15.37:g.42105829C>A	ENSP00000393099:p.Ala283Asp					MAPKBP1_ENST00000456763.2_Missense_Mutation_p.A283D|MAPKBP1_ENST00000514566.1_Missense_Mutation_p.A277D|MAPKBP1_ENST00000221214.6_Intron|MAPKBP1_ENST00000260357.7_Missense_Mutation_p.A165D	p.A277D	NM_014994.2	NP_055809.2	O60336	MABP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;3.95e-17)|GBM - Glioblastoma multiforme(94;5.71e-07)|Lung(196;0.0436)|BRCA - Breast invasive adenocarcinoma(123;0.203)|LUSC - Lung squamous cell carcinoma(244;0.225)	9	1116	+		all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)	283					A6NM93|A8K8P9|Q14CB5|Q14CD8|Q49AJ8|Q5W9G9	Missense_Mutation	SNP	ENST00000456763.2	37	c.830C>A	CCDS45239.1	.	.	.	.	.	.	.	.	.	.	c	28.0	4.883775	0.91814	.	.	ENSG00000137802	ENST00000457542;ENST00000260357;ENST00000456763;ENST00000514566	T;T;T;T	0.55052	0.78;0.54;4.98;4.98	5.64	5.64	0.86602	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.75774	0.3895	M	0.81802	2.56	0.80722	D	1	D;D;D;P	0.89917	1.0;0.995;0.979;0.954	D;D;D;P	0.91635	0.999;0.951;0.965;0.848	T	0.78140	-0.2320	10	0.72032	D	0.01	-12.4713	19.3199	0.94234	0.0:1.0:0.0:0.0	.	165;277;283;277	F8WC21;O60336-2;O60336;O60336-6	.;.;MABP1_HUMAN;.	D	277;165;283;277	ENSP00000397570:A277D;ENSP00000260357:A165D;ENSP00000393099:A283D;ENSP00000426154:A277D	ENSP00000260357:A165D	A	+	2	0	MAPKBP1	39893121	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.818000	0.86416	2.655000	0.90218	0.651000	0.88453	GCC		0.582	MAPKBP1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000359745.1	NM_014994		7	110	1	0	1.6384e-10	1	1.89046e-10	7	110					A	42105829	C	A	42105829	3	1	105	1	0	0	0	0	1	0	0	0	9292	739	26	5	882	5	MAPKBP1	15	42105829	Missense_Mutation	SNP	C	TCGA-EJ-7797-01A-11D-2260-08	7457418	42105829	60425563	41	5769											
ZNF205	7755	broad.mit.edu	37	chr16	3168943	3168943	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cctttctgggcccctcaagcGcacggcaagggtgaggcctc	6	7	13	15	2	2	1	1	1	1	0	3	1	2	1	4	4	1	2	4	4	2	1			TCGA-EJ-7797-01A-11D-2260-08	TCGA-EJ-7797-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4637e5f8-e2cb-48ac-8f87-ef89e3c37574	c5de444a-73e7-4ab5-a966-7865d0d139ec	g.chr16:3168943G>A	ENST00000382192.3	+	6	727	c.522G>A	c.(520-522)gcG>gcA	p.A174A	ZNF205_ENST00000219091.4_Silent_p.A174A|RP11-473M20.14_ENST00000576490.1_RNA|RP11-473M20.14_ENST00000575139.1_RNA	NM_001278158.1|NM_003456.2	NP_001265087.1|NP_003447.2	O95201	ZN205_HUMAN	zinc finger protein 205	174	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of hydrogen peroxide biosynthetic process (GO:0010729)|positive regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway (GO:1901030)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	20						CCCCTCAAGCGCACGGCAAGG	0.652																																						ENST00000382192.3																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	20						c.(520-522)gcG>gcA		zinc finger protein 205							61	72	68					16																	3168943		2197	4300	6497	SO:0001819	synonymous_variant	7755				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr16:3168943G>A	AF060865	CCDS10494.2	16p13.3	2013-01-08			ENSG00000122386	ENSG00000122386		"Zinc fingers, C2H2-type", "-"	12996	protein-coding gene	gene with protein product		603436		ZNF210		9787081	Standard	NM_003456		Approved	Zfp13	uc002cub.3	O95201	OTTHUMG00000148676	ENST00000382192.3:c.522G>A	16.37:g.3168943G>A						RP11-473M20.14_ENST00000575139.1_RNA|ZNF205_ENST00000219091.4_Silent_p.A174A|RP11-473M20.14_ENST00000576490.1_RNA	p.A174A	NM_001278158.1|NM_003456.2	NP_001265087.1|NP_003447.2	O95201	ZN205_HUMAN			6	727	+			174			KRAB.		A8MZK0|D3DUB4|Q9BU95	Silent	SNP	ENST00000382192.3	37	c.522G>A	CCDS10494.2																																																																																				0.652	ZNF205-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309057.1	NM_003456		3	144	0	0	0	1	0	3	144					A	3168943	G	A	3168943	2	1	105	1	0	0	0	0	0	0	0	1	17761	1074	38	1		1	ZNF205	16	3168943	Silent	SNP	G	TCGA-EJ-7797-01A-11D-2260-08		3168943	87185810	42	5770											
NUDT16L1	84309	broad.mit.edu	37	chr16	4744195	4744195	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgacgctggagcagctgcacGccgtggagatcagcgcggtg	7	6	17	11	5	1	2	1	1	0	1	1	4	1	3	1	3	4	4	1	3	0	0			TCGA-EJ-7797-01A-11D-2260-08	TCGA-EJ-7797-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4637e5f8-e2cb-48ac-8f87-ef89e3c37574	c5de444a-73e7-4ab5-a966-7865d0d139ec	g.chr16:4744195G>T	ENST00000304301.6	+	2	403	c.370G>T	c.(370-372)Gcc>Tcc	p.A124S	NUDT16L1_ENST00000405142.1_Missense_Mutation_p.A124S|NUDT16L1_ENST00000586536.1_Missense_Mutation_p.A124S|NUDT16L1_ENST00000586252.1_Missense_Mutation_p.A124S	NM_032349.3	NP_115725.1	Q9BRJ7	SDOS_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 16-like 1	124	Interaction with PXN. {ECO:0000250}.					cytoplasm (GO:0005737)	hydrolase activity (GO:0016787)|poly(A) RNA binding (GO:0044822)|snoRNA binding (GO:0030515)			endometrium(1)|large_intestine(1)|lung(1)|skin(1)	4						GCAGCTGCACGCCGTGGAGAT	0.761																																						ENST00000405142.1																			0				endometrium(1)|large_intestine(1)|lung(1)|skin(1)	4						c.(370-372)Gcc>Tcc		nudix (nucleoside diphosphate linked moiety X)-type motif 16-like 1																																				SO:0001583	missense	84309					cytoplasm	hydrolase activity	g.chr16:4744195G>T	BC006223	CCDS10519.1, CCDS59257.1	16p13.3	2008-02-05			ENSG00000168101	ENSG00000168101		"Nudix motif containing"	28154	protein-coding gene	gene with protein product						11805099	Standard	NM_032349		Approved	SDOS	uc002cxe.3	Q9BRJ7	OTTHUMG00000129471	ENST00000304301.6:c.370G>T	16.37:g.4744195G>T	ENSP00000306670:p.Ala124Ser					NUDT16L1_ENST00000586536.1_Missense_Mutation_p.A124S|NUDT16L1_ENST00000304301.6_Missense_Mutation_p.A124S|NUDT16L1_ENST00000586252.1_Missense_Mutation_p.A124S	p.A124S			Q9BRJ7	SDOS_HUMAN			2	379	+			124			Interaction with PXN (By similarity).		Q8NAI2	Missense_Mutation	SNP	ENST00000304301.6	37	c.370G>T	CCDS10519.1	.	.	.	.	.	.	.	.	.	.	G	16.81	3.224796	0.58668	.	.	ENSG00000168101	ENST00000304301;ENST00000405142	T	0.41758	0.99	3.91	2.95	0.34219	NUDIX hydrolase domain-like (1);	0.280844	0.33650	N	0.004692	T	0.38825	0.1055	L	0.43152	1.355	0.34427	D	0.698087	P;B	0.45531	0.86;0.129	P;B	0.48770	0.589;0.045	T	0.50127	-0.8864	10	0.44086	T	0.13	.	6.1644	0.20382	0.319:0.0:0.681:0.0	.	124;124	Q9BRJ7-2;Q9BRJ7	.;SDOS_HUMAN	S	124	ENSP00000306670:A124S	ENSP00000306670:A124S	A	+	1	0	NUDT16L1	4684196	1.000000	0.71417	0.970000	0.41538	0.977000	0.68977	3.903000	0.56318	0.758000	0.33059	-0.142000	0.14014	GCC		0.761	NUDT16L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251634.1	NM_032349		4	3	1	0	0.00909568	1	0.00940932	4	3					T	4744195	G	T	4744195	3	4	105	1	0	0	0	0	1	0	0	0	10733	1087	38	5	376	5	NUDT16L1	16	4744195	Missense_Mutation	SNP	G	TCGA-EJ-7797-01A-11D-2260-08	1575252	4744195	85610558	43	5771											
THAP11	57215	broad.mit.edu	37	chr16	67876808	67876808	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagcagcaacagcagcaacaGcagcagcagcagcaacagca	17	0	10	14	0	0	0	0	0	0	0	0	0	0	0	0	0	13	10	0	0	3	0			TCGA-EJ-7797-01A-11D-2260-08	TCGA-EJ-7797-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4637e5f8-e2cb-48ac-8f87-ef89e3c37574	c5de444a-73e7-4ab5-a966-7865d0d139ec	g.chr16:67876808G>A	ENST00000303596.1	+	1	596	c.351G>A	c.(349-351)caG>caA	p.Q117Q	CENPT_ENST00000562787.1_Intron	NM_020457.2	NP_065190.2	Q96EK4	THA11_HUMAN	THAP domain containing 11	117	Gln-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|urinary_tract(1)	8		Acute lymphoblastic leukemia(13;0.000299)|all_hematologic(13;0.0184)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00412)|Epithelial(162;0.018)|all cancers(182;0.118)		agcagcaacagcagcagcagc	0.667																																						ENST00000303596.1																			0				cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|urinary_tract(1)	8						c.(349-351)caG>caA		THAP domain containing 11							22	27	25					16																	67876808		1916	3809	5725	SO:0001819	synonymous_variant	57215				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|identical protein binding|metal ion binding	g.chr16:67876808G>A	AB015338	CCDS10847.1	16q22.1	2013-01-25			ENSG00000168286	ENSG00000168286		"THAP (C2CH-type zinc finger) domain containing"	23194	protein-coding gene	gene with protein product		609119				12575992, 8325628	Standard	NM_020457		Approved	HRIHFB2206, CTG-B45d, CTG-B43a	uc002euo.3	Q96EK4	OTTHUMG00000137546	ENST00000303596.1:c.351G>A	16.37:g.67876808G>A						CENPT_ENST00000562787.1_Intron	p.Q117Q	NM_020457.2	NP_065190.2	Q96EK4	THA11_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00412)|Epithelial(162;0.018)|all cancers(182;0.118)	1	596	+		Acute lymphoblastic leukemia(13;0.000299)|all_hematologic(13;0.0184)|Ovarian(137;0.0563)	117			Gln-rich.		A4UCT5|A8K002|O94795	Silent	SNP	ENST00000303596.1	37	c.351G>A	CCDS10847.1																																																																																				0.667	THAP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268879.1	NM_020457		5	94	0	0	0	1	0	5	94					A	67876808	G	A	67876808	2	1	105	1	0	0	0	0	0	0	0	1	15840	962	34	3		3	THAP11	16	67876808	Silent	SNP	G	TCGA-EJ-7797-01A-11D-2260-08	63132613	67876808	22477945	44	5772											
SLC12A4	6560	broad.mit.edu	37	chr16	67988583	67988583	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cccccaggatgtacatggctGctgcgaatgttgttcccagg	7	10	12	12	1	0	0	0	0	0	0	1	2	1	1	3	3	3	5	3	3	2	3			TCGA-EJ-7797-01A-11D-2260-08	TCGA-EJ-7797-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4637e5f8-e2cb-48ac-8f87-ef89e3c37574	c5de444a-73e7-4ab5-a966-7865d0d139ec	g.chr16:67988583G>C	ENST00000316341.3	-	6	778	c.638C>G	c.(637-639)gCa>gGa	p.A213G	SLC12A4_ENST00000572037.1_Missense_Mutation_p.A165G|SLC12A4_ENST00000537830.2_Missense_Mutation_p.A207G|SLC12A4_ENST00000541864.2_Missense_Mutation_p.A182G|SLC12A4_ENST00000576616.1_Missense_Mutation_p.A213G|SLC12A4_ENST00000572010.1_5'UTR|SLC12A4_ENST00000338335.3_Missense_Mutation_p.A213G|SLC12A4_ENST00000422611.2_Missense_Mutation_p.A215G	NM_001145961.1|NM_005072.4	NP_001139433.1|NP_005063.1	Q9UP95	S12A4_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 4	213					cell volume homeostasis (GO:0006884)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|potassium ion transport (GO:0006813)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|plasma membrane (GO:0005886)	potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(2)|ovary(2)|prostate(4)|skin(2)|urinary_tract(3)	29		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)	Bumetanide(DB00887)|Potassium Chloride(DB00761)	GTACATGGCTGCTGCGAATGT	0.562																																						ENST00000422611.2																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(2)|ovary(2)|prostate(4)|skin(2)|urinary_tract(3)	29						c.(643-645)gCa>gGa		solute carrier family 12 (potassium/chloride transporter), member 4	Bumetanide(DB00887)|Potassium Chloride(DB00761)						140	114	123					16																	67988583		2198	4300	6498	SO:0001583	missense	6560				cell volume homeostasis|potassium ion transport|sodium ion transport	integral to plasma membrane|membrane fraction	potassium:chloride symporter activity	g.chr16:67988583G>C		CCDS10855.1, CCDS54030.1, CCDS54031.1, CCDS54032.1	16q22.1	2013-07-18	2013-07-18		ENSG00000124067	ENSG00000124067		"Solute carriers"	10913	protein-coding gene	gene with protein product		604119				8663127	Standard	NM_005072		Approved	KCC1	uc010ceu.2	Q9UP95	OTTHUMG00000137535	ENST00000316341.3:c.638C>G	16.37:g.67988583G>C	ENSP00000318557:p.Ala213Gly					SLC12A4_ENST00000541864.2_Missense_Mutation_p.A182G|SLC12A4_ENST00000576616.1_Missense_Mutation_p.A213G|SLC12A4_ENST00000338335.3_Missense_Mutation_p.A213G|SLC12A4_ENST00000316341.3_Missense_Mutation_p.A213G|SLC12A4_ENST00000572037.1_Missense_Mutation_p.A165G|SLC12A4_ENST00000572010.1_5'UTR|SLC12A4_ENST00000537830.2_Missense_Mutation_p.A207G	p.A215G	NM_001145962.1	NP_001139434.1	Q9UP95	S12A4_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)	5	683	-		Ovarian(137;0.192)	213					B4DF69|B4DR04|B4DZ82|B7ZAV0|F5H066|F5H0S9|F5H3C0|O60632|O75893|Q13953|Q96LD5	Missense_Mutation	SNP	ENST00000316341.3	37	c.644C>G	CCDS10855.1	.	.	.	.	.	.	.	.	.	.	G	8.930	0.963158	0.18583	.	.	ENSG00000124067	ENST00000422611;ENST00000541864;ENST00000537830;ENST00000338335;ENST00000316341	D;D;D;D;D	0.98717	-5.09;-5.09;-5.09;-5.09;-5.09	5.39	5.39	0.77823	Amino acid permease domain (1);	0.162071	0.53938	D	0.000049	D	0.93455	0.7912	N	0.02775	-0.495	0.49915	D	0.999834	B;B;B;B;B;B;B	0.14438	0.01;0.005;0.001;0.001;0.002;0.002;0.003	B;B;B;B;B;B;B	0.23150	0.044;0.026;0.003;0.009;0.012;0.012;0.008	D	0.90917	0.4780	10	0.09338	T	0.73	.	14.0894	0.64980	0.0:0.2687:0.7313:0.0	.	215;213;182;165;207;213;213	F5H3C0;B4DF30;F5H066;B4DF69;F5H0S9;Q9UP95-2;Q9UP95	.;.;.;.;.;.;S12A4_HUMAN	G	215;182;207;213;213	ENSP00000395983:A215G;ENSP00000438334:A182G;ENSP00000445962:A207G;ENSP00000343374:A213G;ENSP00000318557:A213G	ENSP00000318557:A213G	A	-	2	0	SLC12A4	66546084	0.998000	0.40836	1.000000	0.80357	0.980000	0.70556	2.957000	0.49137	2.676000	0.91093	0.655000	0.94253	GCA		0.562	SLC12A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268864.4	NM_005072		5	86	0	0	0	1	0	5	86					C	67988583	G	C	67988583	3	2	105	1	0	0	0	0	1	0	0	0	14385	1319	46	5	2695	5	SLC12A4	16	67988583	Missense_Mutation	SNP	G	TCGA-EJ-7797-01A-11D-2260-08	111775	67988583	22366170	45	5773											
LRRC59	55379	broad.mit.edu	37	chr17	48460506	48460508	+	In_Frame_Del	DEL	AGC	AGC	-																															gccctcccgccacaccaaatAgcagcagcagcagcagcagc																										TCGA-EJ-7797-01A-11D-2260-08	TCGA-EJ-7797-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4637e5f8-e2cb-48ac-8f87-ef89e3c37574	c5de444a-73e7-4ab5-a966-7865d0d139ec	g.chr17:48460506_48460508delAGC	ENST00000225972.7	-	7	1000_1002	c.765_767delGCT	c.(763-768)ctgcta>cta	p.255_256LL>L	Y_RNA_ENST00000384097.1_RNA	NM_018509.3	NP_060979.2	Q96AG4	LRC59_HUMAN	leucine rich repeat containing 59	255	Poly-Leu.					endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial nucleoid (GO:0042645)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|urinary_tract(1)	13	Breast(11;5.62e-19)		BRCA - Breast invasive adenocarcinoma(22;2.43e-08)			CACACCAAATagcagcagcagca	0.606																																						ENST00000225972.7																			0				NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|urinary_tract(1)	13						c.(763-768)cta>ct		leucine rich repeat containing 59																																				SO:0001651	inframe_deletion	55379					endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial nucleoid	protein binding	g.chr17:48460506_48460508delAGC	AK025328	CCDS11566.1	17q21.33	2014-02-12	2006-01-12		ENSG00000108829	ENSG00000108829			28817	protein-coding gene	gene with protein product		614854				12477932	Standard	NM_018509		Approved	PRO1855, FLJ21675	uc002iqt.3	Q96AG4	OTTHUMG00000162079	ENST00000225972.7:c.765_767delGCT	17.37:g.48460515_48460517delAGC	ENSP00000225972:p.Leu256del						p.LL255del	NM_018509.3	NP_060979.2	Q96AG4	LRC59_HUMAN	BRCA - Breast invasive adenocarcinoma(22;2.43e-08)		7	1000_1002	-	Breast(11;5.62e-19)		255			Poly-Leu.		B2RE83|D3DTX8|Q9P189	In_Frame_Del	DEL	ENST00000225972.7	37	c.765_767delGCT	CCDS11566.1																																																																																				0.606	LRRC59-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367117.2	NM_018509		2	4						2	4	---	---	---	---	-	48460508	AGC	-	48460506	7	5	105	1	0	1	0	1	0	0	0	0	9015	420	15	0	160	0	LRRC59	17	48460506	In_Frame_Del	DEL	AGC	TCGA-EJ-7797-01A-11D-2260-08		48460506	32734704	46	5774											
EPB41L3	23136	broad.mit.edu	37	chr18	5395133	5395133	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	caattcttgtctctgaaatgCcccctttcacagtctgcaag	9	13	6	13	0	4	1	1	1	3	0	5	1	4	1	2	0	2	1	2	0	3	3			TCGA-EJ-7797-01A-11D-2260-08	TCGA-EJ-7797-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4637e5f8-e2cb-48ac-8f87-ef89e3c37574	c5de444a-73e7-4ab5-a966-7865d0d139ec	g.chr18:5395133C>T	ENST00000341928.2	-	21	3426	c.3086G>A	c.(3085-3087)gGc>gAc	p.G1029D	EPB41L3_ENST00000540638.2_Missense_Mutation_p.G807D|EPB41L3_ENST00000544123.1_Missense_Mutation_p.G860D|EPB41L3_ENST00000427684.2_Missense_Mutation_p.G326D|EPB41L3_ENST00000542652.2_5'UTR|EPB41L3_ENST00000342933.3_Missense_Mutation_p.G1029D|EPB41L3_ENST00000542146.1_Missense_Mutation_p.G334D|EPB41L3_ENST00000400111.3_Missense_Mutation_p.G807D	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	1029	C-terminal (CTD).				apoptotic process (GO:0006915)|cortical actin cytoskeleton organization (GO:0030866)|cortical cytoskeleton organization (GO:0030865)|cytoskeletal anchoring at plasma membrane (GO:0007016)|myelin maintenance (GO:0043217)|neuron projection morphogenesis (GO:0048812)|paranodal junction assembly (GO:0030913)|protein localization to juxtaparanode region of axon (GO:0071205)|protein localization to paranode region of axon (GO:0002175)|protein localization to plasma membrane (GO:0072659)|regulation of cell shape (GO:0008360)	axolemma (GO:0030673)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)|juxtaparanode region of axon (GO:0044224)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						CTCTGAAATGCCCCCTTTCAC	0.478																																						ENST00000341928.2																			0				breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						c.(3085-3087)gGc>gAc		erythrocyte membrane protein band 4.1-like 3							125	105	112					18																	5395133		2203	4300	6503	SO:0001583	missense	23136				cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity	g.chr18:5395133C>T	AB023204	CCDS11838.1, CCDS62381.1, CCDS62382.1	18p11.32	2006-06-28			ENSG00000082397	ENSG00000082397			3380	protein-coding gene	gene with protein product		605331				9828140, 9892180	Standard	NM_012307		Approved	DAL1, KIAA0987, 4.1B	uc002kmt.1	Q9Y2J2	OTTHUMG00000131562	ENST00000341928.2:c.3086G>A	18.37:g.5395133C>T	ENSP00000343158:p.Gly1029Asp					EPB41L3_ENST00000427684.2_Missense_Mutation_p.G326D|EPB41L3_ENST00000400111.3_Missense_Mutation_p.G807D|EPB41L3_ENST00000342933.3_Missense_Mutation_p.G1029D|EPB41L3_ENST00000540638.2_Missense_Mutation_p.G807D|EPB41L3_ENST00000542652.2_5'UTR|EPB41L3_ENST00000542146.1_Missense_Mutation_p.G334D|EPB41L3_ENST00000544123.1_Missense_Mutation_p.G860D	p.G1029D	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN			21	3426	-			1029			Carboxyl-terminal (CTD).		B7Z4I5|F5GX05|O95713|Q9BRP5	Missense_Mutation	SNP	ENST00000341928.2	37	c.3086G>A	CCDS11838.1	.	.	.	.	.	.	.	.	.	.	C	32	5.106629	0.94292	.	.	ENSG00000082397	ENST00000341928;ENST00000540638;ENST00000544123;ENST00000545076;ENST00000427684;ENST00000542146;ENST00000342933;ENST00000400111	D;D;D;D;D;D	0.88586	-2.4;-2.4;-2.4;-2.4;-2.4;-2.4	5.93	5.93	0.95920	Band 4.1, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.95890	0.8662	M	0.90814	3.15	0.80722	D	1	D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D	0.97110	0.999;1.0;1.0;1.0;1.0;0.996;1.0;1.0	D	0.95869	0.8889	10	0.87932	D	0	.	20.3539	0.98825	0.0:1.0:0.0:0.0	.	860;326;334;421;698;807;1029;264	F5GX05;E7EUF8;F5H7W5;B7Z8M8;A8K968;Q9Y2J2-2;Q9Y2J2;B3KT50	.;.;.;.;.;.;E41L3_HUMAN;.	D	1029;698;860;698;326;334;1029;807	ENSP00000343158:G1029D;ENSP00000441174:G860D;ENSP00000392195:G326D;ENSP00000442233:G334D;ENSP00000341138:G1029D;ENSP00000382981:G807D	ENSP00000343158:G1029D	G	-	2	0	EPB41L3	5385133	1.000000	0.71417	1.000000	0.80357	0.862000	0.49288	7.764000	0.85297	2.826000	0.97356	0.655000	0.94253	GGC		0.478	EPB41L3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254424.1	NM_012307		3	91	0	0	0	1	0	3	91					T	5395133	C	T	5395133	3	4	105	1	0	0	0	0	1	0	0	0	5154	739	26	3	185	3	EPB41L3	18	5395133	Missense_Mutation	SNP	C	TCGA-EJ-7797-01A-11D-2260-08		5395133	72682115	47	5775											
EPB41L3	23136	broad.mit.edu	37	chr18	5419867	5419867	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttgttgtggcgtactggccaGtaccaacctctgcagcagac	8	10	11	12	1	1	1	0	0	1	1	1	1	1	1	3	2	5	5	3	2	3	4			TCGA-EJ-7797-01A-11D-2260-08	TCGA-EJ-7797-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4637e5f8-e2cb-48ac-8f87-ef89e3c37574	c5de444a-73e7-4ab5-a966-7865d0d139ec	g.chr18:5419867G>A	ENST00000341928.2	-	12	1689	c.1349C>T	c.(1348-1350)aCt>aTt	p.T450I	EPB41L3_ENST00000540638.2_Missense_Mutation_p.T468I|EPB41L3_ENST00000544123.1_Missense_Mutation_p.T468I|EPB41L3_ENST00000427684.2_5'Flank|EPB41L3_ENST00000542652.2_5'UTR|EPB41L3_ENST00000342933.3_Missense_Mutation_p.T450I|EPB41L3_ENST00000542146.1_5'Flank|EPB41L3_ENST00000400111.3_Missense_Mutation_p.T468I	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	450	Hydrophilic.				apoptotic process (GO:0006915)|cortical actin cytoskeleton organization (GO:0030866)|cortical cytoskeleton organization (GO:0030865)|cytoskeletal anchoring at plasma membrane (GO:0007016)|myelin maintenance (GO:0043217)|neuron projection morphogenesis (GO:0048812)|paranodal junction assembly (GO:0030913)|protein localization to juxtaparanode region of axon (GO:0071205)|protein localization to paranode region of axon (GO:0002175)|protein localization to plasma membrane (GO:0072659)|regulation of cell shape (GO:0008360)	axolemma (GO:0030673)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)|juxtaparanode region of axon (GO:0044224)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						GTACTGGCCAGTACCAACCTC	0.438																																						ENST00000341928.2																			0				breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						c.(1348-1350)aCt>aTt		erythrocyte membrane protein band 4.1-like 3							119	97	105					18																	5419867		2203	4300	6503	SO:0001583	missense	23136				cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity	g.chr18:5419867G>A	AB023204	CCDS11838.1, CCDS62381.1, CCDS62382.1	18p11.32	2006-06-28			ENSG00000082397	ENSG00000082397			3380	protein-coding gene	gene with protein product		605331				9828140, 9892180	Standard	NM_012307		Approved	DAL1, KIAA0987, 4.1B	uc002kmt.1	Q9Y2J2	OTTHUMG00000131562	ENST00000341928.2:c.1349C>T	18.37:g.5419867G>A	ENSP00000343158:p.Thr450Ile					EPB41L3_ENST00000400111.3_Missense_Mutation_p.T468I|EPB41L3_ENST00000342933.3_Missense_Mutation_p.T450I|EPB41L3_ENST00000540638.2_Missense_Mutation_p.T468I|EPB41L3_ENST00000542652.2_5'UTR|EPB41L3_ENST00000544123.1_Missense_Mutation_p.T468I	p.T450I	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN			12	1689	-			450			Hydrophilic.		B7Z4I5|F5GX05|O95713|Q9BRP5	Missense_Mutation	SNP	ENST00000341928.2	37	c.1349C>T	CCDS11838.1	.	.	.	.	.	.	.	.	.	.	G	10.56	1.383867	0.25031	.	.	ENSG00000082397	ENST00000341928;ENST00000540638;ENST00000544123;ENST00000545076;ENST00000342933;ENST00000400111	D;D;D;D	0.82803	-1.54;-1.62;-1.54;-1.65	5.61	4.74	0.60224	.	0.289856	0.37530	N	0.002049	D	0.89371	0.6696	M	0.63428	1.95	0.80722	D	1	D;D;D;D;P	0.89917	1.0;0.999;0.986;0.992;0.894	D;D;P;P;P	0.85130	0.997;0.953;0.593;0.77;0.578	D	0.89767	0.3951	10	0.52906	T	0.07	.	15.0081	0.71527	0.0688:0.0:0.9312:0.0	.	468;29;359;468;450	F5GX05;B7Z8M8;A8K968;Q9Y2J2-2;Q9Y2J2	.;.;.;.;E41L3_HUMAN	I	450;359;468;359;450;468	ENSP00000343158:T450I;ENSP00000441174:T468I;ENSP00000341138:T450I;ENSP00000382981:T468I	ENSP00000343158:T450I	T	-	2	0	EPB41L3	5409867	1.000000	0.71417	1.000000	0.80357	0.063000	0.16089	7.824000	0.86668	1.514000	0.48869	-0.150000	0.13652	ACT		0.438	EPB41L3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254424.1	NM_012307		3	117	0	0	0	1	0	3	117					A	5419867	G	A	5419867	3	1	105	1	0	0	0	0	1	0	0	0	5154	1029	36	3	1958	3	EPB41L3	18	5419867	Missense_Mutation	SNP	G	TCGA-EJ-7797-01A-11D-2260-08	24734	5419867	72657381	48	5776											
LAMA3	3909	broad.mit.edu	37	chr18	21492720	21492720	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtaaatctggagtcgaagtcCgactgccaaatgacctggaa	13	8	11	9	2	1	1	0	1	1	0	3	5	2	3	3	2	1	1	3	2	5	1			TCGA-EJ-7797-01A-11D-2260-08	TCGA-EJ-7797-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4637e5f8-e2cb-48ac-8f87-ef89e3c37574	c5de444a-73e7-4ab5-a966-7865d0d139ec	g.chr18:21492720C>T	ENST00000313654.9	+	56	7445	c.7204C>T	c.(7204-7206)Cga>Tga	p.R2402*	LAMA3_ENST00000269217.6_Nonsense_Mutation_p.R793*|LAMA3_ENST00000399516.3_Nonsense_Mutation_p.R2346*|LAMA3_ENST00000587184.1_Nonsense_Mutation_p.R737*|LAMA3_ENST00000588770.1_3'UTR	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	2402	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-5 complex (GO:0005610)	structural molecule activity (GO:0005198)			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)					AGTCGAAGTCCGACTGCCAAA	0.443																																						ENST00000313654.9																			0				NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	GRCh37	CM080430	LAMA3	M		c.(7204-7206)Cga>Tga		laminin, alpha 3	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						111	109	110					18																	21492720		2203	4300	6503	SO:0001587	stop_gained	3909				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	g.chr18:21492720C>T	L34155	CCDS11880.1, CCDS42419.1, CCDS45838.1, CCDS59307.1	18q11.2	2013-03-01	2002-08-29		ENSG00000053747	ENSG00000053747		"Laminins"	6483	protein-coding gene	gene with protein product		600805	"laminin, alpha 3 (nicein (150kD), kalinin (165kD), BM600 (150kD), epilegrin)"	LAMNA		8077230	Standard	NM_000227		Approved	nicein-150kDa, kalinin-165kDa, BM600-150kDa, epiligrin	uc002kuq.3	Q16787	OTTHUMG00000131874	ENST00000313654.9:c.7204C>T	18.37:g.21492720C>T	ENSP00000324532:p.Arg2402*					LAMA3_ENST00000399516.3_Nonsense_Mutation_p.R2346*|LAMA3_ENST00000588770.1_3'UTR|LAMA3_ENST00000587184.1_Nonsense_Mutation_p.R737*|LAMA3_ENST00000269217.6_Nonsense_Mutation_p.R793*	p.R2402*	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN			56	7445	+	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)		2402			Laminin G-like 1.		B0YJ33|Q13679|Q13680|Q6VU67|Q6VU68|Q6VU69|Q76E14|Q96TG0	Nonsense_Mutation	SNP	ENST00000313654.9	37	c.7204C>T	CCDS42419.1	.	.	.	.	.	.	.	.	.	.	C	49	15.781247	0.99845	.	.	ENSG00000053747	ENST00000313654;ENST00000399516;ENST00000269217	.	.	.	5.64	5.64	0.86602	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.7174	0.96129	0.0:1.0:0.0:0.0	.	.	.	.	X	2402;2346;793	.	ENSP00000269217:R793X	R	+	1	2	LAMA3	19746718	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	6.862000	0.75484	2.653000	0.90120	0.655000	0.94253	CGA		0.443	LAMA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254824.3	NM_000227, NM_198129		8	86	0	0	0	1	0	8	86					T	21492720	C	T	21492720	4	4	105	1	0	0	0	0	0	1	0	0	8607	644	23	2	7601	2	LAMA3	18	21492720	Nonsense_Mutation	SNP	C	TCGA-EJ-7797-01A-11D-2260-08	16072853	21492720	56584528	49	5777											
HPN	3249	broad.mit.edu	37	chr19	35556886	35556886	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctggcccagaagccaggcGtctacaccaaagtcagtgac	11	5	10	15	1	2	2	1	1	1	1	2	2	2	2	4	2	2	0	4	2	3	1			TCGA-EJ-7797-01A-11D-2260-08	TCGA-EJ-7797-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4637e5f8-e2cb-48ac-8f87-ef89e3c37574	c5de444a-73e7-4ab5-a966-7865d0d139ec	g.chr19:35556886G>A	ENST00000262626.2	+	12	1990	c.1165G>A	c.(1165-1167)Gtc>Atc	p.V389I	HPN_ENST00000392226.1_Missense_Mutation_p.V389I|HPN-AS1_ENST00000392227.2_RNA|HPN_ENST00000597419.1_Missense_Mutation_p.V231I	NM_182983.2	NP_892028.1	P05981	HEPS_HUMAN	hepsin	389	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				basement membrane disassembly (GO:0034769)|cholesterol homeostasis (GO:0042632)|cochlea morphogenesis (GO:0090103)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|epithelium development (GO:0060429)|negative regulation of alkaline phosphatase activity (GO:0010693)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|pilomotor reflex (GO:0097195)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of cell growth (GO:0030307)|positive regulation of gene expression (GO:0010628)|positive regulation of hepatocyte proliferation (GO:2000347)|positive regulation of plasminogen activation (GO:0010756)|positive regulation of thyroid hormone generation (GO:2000611)|potassium ion transmembrane transport (GO:0071805)|proteolysis (GO:0006508)|regulation of cell shape (GO:0008360)|response to thyroid hormone (GO:0097066)	cell surface (GO:0009986)|cell-cell junction (GO:0005911)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	calcium-activated potassium channel activity (GO:0015269)|peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)|serine-type exopeptidase activity (GO:0070008)|serine-type peptidase activity (GO:0008236)			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(6)|ovary(2)|upper_aerodigestive_tract(2)	19	all_lung(56;5.38e-08)|Lung NSC(56;8.61e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)		Coagulation factor VIIa(DB00036)	GAAGCCAGGCGTCTACACCAA	0.587																																						ENST00000262626.2																			0				central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(6)|ovary(2)|upper_aerodigestive_tract(2)	19						c.(1165-1167)Gtc>Atc		hepsin	Coagulation factor VIIa(DB00036)						117	125	123					19																	35556886		2203	4300	6503	SO:0001583	missense	3249				cell growth|proteolysis	cytoplasm|integral to plasma membrane	scavenger receptor activity|serine-type endopeptidase activity	g.chr19:35556886G>A		CCDS32993.1	19q13.12	2013-04-25	2008-12-08		ENSG00000105707	ENSG00000105707		"Serine peptidases / Transmembrane"	5155	protein-coding gene	gene with protein product	"transmembrane protease, serine 1"	142440				2835076	Standard	NM_182983		Approved	TMPRSS1	uc002nxq.2	P05981	OTTHUMG00000182474	ENST00000262626.2:c.1165G>A	19.37:g.35556886G>A	ENSP00000262626:p.Val389Ile					HPN_ENST00000597419.1_Missense_Mutation_p.V231I|HPN_ENST00000392226.1_Missense_Mutation_p.V389I|HPN-AS1_ENST00000392227.2_RNA	p.V389I	NM_182983.2	NP_892028.1	P05981	HEPS_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0849)		12	1990	+	all_lung(56;5.38e-08)|Lung NSC(56;8.61e-08)|Esophageal squamous(110;0.162)		389			Peptidase S1.		B2RDS4	Missense_Mutation	SNP	ENST00000262626.2	37	c.1165G>A	CCDS32993.1	.	.	.	.	.	.	.	.	.	.	G	33	5.245481	0.95272	.	.	ENSG00000105707	ENST00000262626;ENST00000392226;ENST00000541345	D;D	0.90732	-2.72;-2.72	4.86	4.86	0.63082	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.063724	0.64402	D	0.000008	D	0.93331	0.7874	L	0.47016	1.485	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.996;0.994;0.997	D	0.93911	0.7197	10	0.87932	D	0	.	15.5171	0.75833	0.0:0.0:1.0:0.0	.	361;389;389	B7Z1L4;B2ZDQ2;P05981	.;.;HEPS_HUMAN	I	389;389;361	ENSP00000262626:V389I;ENSP00000376060:V389I	ENSP00000262626:V389I	V	+	1	0	HPN	40248726	1.000000	0.71417	0.956000	0.39512	0.975000	0.68041	7.516000	0.81772	2.533000	0.85409	0.455000	0.32223	GTC		0.587	HPN-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461573.1	NM_002151		4	169	0	0	0	1	0	4	169					A	35556886	G	A	35556886	3	1	105	1	0	0	0	0	1	0	0	0	7336	1145	40	1	1207	1	HPN	19	35556886	Missense_Mutation	SNP	G	TCGA-EJ-7797-01A-11D-2260-08		35556886	23572097	50	5778											
ZNF610	162963	broad.mit.edu	37	chr19	52868989	52868989	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gaagcaatgcagaaaacaagCctattaaaaatcaacttgga	20	7	7	7	0	1	1	1	0	0	1	1	3	1	2	1	1	5	2	1	1	10	3			TCGA-EJ-7797-01A-11D-2260-08	TCGA-EJ-7797-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4637e5f8-e2cb-48ac-8f87-ef89e3c37574	c5de444a-73e7-4ab5-a966-7865d0d139ec	g.chr19:52868989C>A	ENST00000403906.3	+	6	814	c.358C>A	c.(358-360)Cct>Act	p.P120T	ZNF610_ENST00000327920.8_Missense_Mutation_p.P120T|ZNF610_ENST00000601151.1_Missense_Mutation_p.P77T|ZNF610_ENST00000321287.8_Missense_Mutation_p.P120T	NM_001161425.1	NP_001154897.1	Q8N9Z0	ZN610_HUMAN	zinc finger protein 610	120					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(8)|liver(2)|lung(9)|ovary(2)|stomach(2)|upper_aerodigestive_tract(2)	34				OV - Ovarian serous cystadenocarcinoma(262;0.00396)|GBM - Glioblastoma multiforme(134;0.00434)		AGAAAACAAGCCTATTAAAAA	0.403																																						ENST00000601151.1																			0				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(8)|liver(2)|lung(9)|ovary(2)|stomach(2)|upper_aerodigestive_tract(2)	34						c.(229-231)Cct>Act		zinc finger protein 610							126	138	134					19																	52868989		2203	4300	6503	SO:0001583	missense	162963				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52868989C>A	AK093359	CCDS12851.1, CCDS54309.1	19q13.41	2013-01-08			ENSG00000167554	ENSG00000167554		"Zinc fingers, C2H2-type", "-"	26687	protein-coding gene	gene with protein product						12477932	Standard	NM_001161425		Approved	FLJ36040	uc002pyx.4	Q8N9Z0		ENST00000403906.3:c.358C>A	19.37:g.52868989C>A	ENSP00000383922:p.Pro120Thr					ZNF610_ENST00000327920.8_Missense_Mutation_p.P120T|ZNF610_ENST00000321287.8_Missense_Mutation_p.P120T|ZNF610_ENST00000403906.3_Missense_Mutation_p.P120T	p.P77T	NM_001161427.1	NP_001154899.1	Q8N9Z0	ZN610_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00396)|GBM - Glioblastoma multiforme(134;0.00434)	5	681	+			120			KRAB.		A8K4C3|Q86YH8|Q8NDS9	Missense_Mutation	SNP	ENST00000403906.3	37	c.229C>A	CCDS12851.1	.	.	.	.	.	.	.	.	.	.	C	12.09	1.832985	0.32421	.	.	ENSG00000167554	ENST00000403906;ENST00000321287;ENST00000327920	T;T	0.04970	3.52;3.52	1.11	-5.75E-4	0.14038	.	.	.	.	.	T	0.05181	0.0138	M	0.64997	1.995	0.09310	N	1	P;P	0.39809	0.689;0.563	B;B	0.25987	0.065;0.03	T	0.37244	-0.9714	9	0.27082	T	0.32	.	5.3653	0.16111	0.0:0.7788:0.0:0.2212	.	77;120	Q8N9Z0-2;Q8N9Z0	.;ZN610_HUMAN	T	120;77;120	ENSP00000383922:P120T;ENSP00000327597:P120T	ENSP00000324441:P77T	P	+	1	0	ZNF610	57560801	0.000000	0.05858	0.001000	0.08648	0.324000	0.28378	-1.021000	0.03615	0.038000	0.15604	0.313000	0.20887	CCT		0.403	ZNF610-003	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462880.1	NM_173530		5	148	1	0	3.59834e-05	1	3.92546e-05	5	148					A	52868989	C	A	52868989	3	1	105	1	0	0	0	0	1	0	0	0	18033	739	26	5	372	5	ZNF610	19	52868989	Missense_Mutation	SNP	C	TCGA-EJ-7797-01A-11D-2260-08	17312103	52868989	6259994	51	5779											
COL18A1	80781	broad.mit.edu	37	chr21	46911183	46911183	+	Frame_Shift_Del	DEL	C	C	-																															gggcagccgggcctccctggCccccccggacccccgggacc																										TCGA-EJ-7797-01A-11D-2260-08	TCGA-EJ-7797-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4637e5f8-e2cb-48ac-8f87-ef89e3c37574	c5de444a-73e7-4ab5-a966-7865d0d139ec	g.chr21:46911183delC	ENST00000359759.4	+	21	3378	c.3357delC	c.(3355-3357)ggcfs	p.G1119fs	COL18A1_ENST00000400337.2_Frame_Shift_Del_p.G704fs|COL18A1_ENST00000355480.5_Frame_Shift_Del_p.G884fs			P39060	COIA1_HUMAN	collagen, type XVIII, alpha 1	1119	Triple-helical region 4 (COL4).				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|endothelial cell morphogenesis (GO:0001886)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of cell proliferation (GO:0008285)|organ morphogenesis (GO:0009887)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell apoptotic process (GO:2000353)|response to drug (GO:0042493)|response to hydrostatic pressure (GO:0051599)|visual perception (GO:0007601)	basement membrane (GO:0005604)|collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|structural molecule activity (GO:0005198)			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25				Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929)		GCCTCCCTGGCCCCCCCGGAC	0.692																																						ENST00000359759.4																			0				breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25						c.(3355-3357)ggfs		collagen, type XVIII, alpha 1							19	26	24					21																	46911183		1917	4091	6008	SO:0001589	frameshift_variant	80781				cell adhesion|negative regulation of cell proliferation|organ morphogenesis|visual perception	collagen|extracellular space	extracellular matrix structural constituent|metal ion binding|protein binding	g.chr21:46911183delC		CCDS42971.1, CCDS42972.1	21q22.3	2013-01-16			ENSG00000182871	ENSG00000182871		"Collagens"	2195	protein-coding gene	gene with protein product	"endostatin"	120328	"Knobloch syndrome, type 1"	KNO		8188291, 8776601, 10942434, 17546652	Standard	NM_130445		Approved	KS, KNO1	uc002zhi.3	P39060	OTTHUMG00000090407	ENST00000359759.4:c.3357delC	21.37:g.46911183delC	ENSP00000352798:p.Gly1119fs					COL18A1_ENST00000355480.5_Frame_Shift_Del_p.G884fs|COL18A1_ENST00000400337.2_Frame_Shift_Del_p.G704fs	p.G1119fs			P39060	COIA1_HUMAN		Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929)	21	3378	+			1119			Triple-helical region 4 (COL4).		A8MVI4|Q58EX6|Q6RZ39|Q6RZ40|Q6RZ41|Q8N4S4|Q8WXI5|Q96T70|Q9UK38|Q9Y6Q7|Q9Y6Q8	Frame_Shift_Del	DEL	ENST00000359759.4	37	c.3357delC																																																																																					0.692	COL18A1-201	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000206827.1			8	89						8	89	---	---	---	---	-	46911183	C	-	46911183	7	5	105	1	0	1	0	1	0	0	0	0	3675	726	26	0	3553	0	COL18A1	21	46911183	Frame_Shift_Del	DEL	C	TCGA-EJ-7797-01A-11D-2260-08		46911183	1218712	52	5780											
C22orf36	2678	broad.mit.edu	37	chr22	24982300	24982300	+	Intron	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtagcgtgtgatgtgttgcaCgtcctgtgtcgacagcggga	6	11	16	8	4	0	1	0	1	0	0	2	3	1	2	1	1	3	3	1	1	1	2			TCGA-EJ-7797-01A-11D-2260-08	TCGA-EJ-7797-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4637e5f8-e2cb-48ac-8f87-ef89e3c37574	c5de444a-73e7-4ab5-a966-7865d0d139ec	g.chr22:24982300C>A	ENST00000248923.4	+	1	59				FAM211B_ENST00000495297.1_5'Flank|FAM211B_ENST00000318753.8_Missense_Mutation_p.V168L	NM_013430.2	NP_038347.2	P19440	GGT1_HUMAN	gamma-glutamyltransferase 1						arachidonic acid metabolic process (GO:0019369)|cellular amino acid metabolic process (GO:0006520)|cysteine biosynthetic process (GO:0019344)|glutamate metabolic process (GO:0006536)|glutathione biosynthetic process (GO:0006750)|glutathione catabolic process (GO:0006751)|glutathione derivative biosynthetic process (GO:1901687)|glutathione metabolic process (GO:0006749)|leukotriene biosynthetic process (GO:0019370)|leukotriene metabolic process (GO:0006691)|regulation of immune system process (GO:0002682)|regulation of inflammatory response (GO:0050727)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)|xenobiotic metabolic process (GO:0006805)|zymogen activation (GO:0031638)	anchored component of external side of plasma membrane (GO:0031362)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	gamma-glutamyltransferase activity (GO:0003840)|glutathione hydrolase activity (GO:0036374)			breast(1)|endometrium(2)|kidney(14)|large_intestine(2)|lung(6)|pancreas(1)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	40					Glutathione(DB00143)	ATGTGTTGCACGTCCTGTGTC	0.617																																						ENST00000318753.8																			0											c.(502-504)Gtg>Ttg		family with sequence similarity 211, member B							156	170	166					22																	24982300		2188	4280	6468	SO:0001627	intron_variant	388886							g.chr22:24982300C>A	M24903	CCDS42992.1	22q11.23	2008-08-15			ENSG00000100031	ENSG00000100031	2.3.2.2	"CD molecules", "Gamma-glutamyltransferases"	4250	protein-coding gene	gene with protein product		612346		GGT		8104871, 18357469	Standard	NM_001288833		Approved	D22S672, D22S732, CD224	uc003aan.1	P19440	OTTHUMG00000030859	ENST00000248923.4:c.-429+2524C>A	22.37:g.24982300C>A						GGT1_ENST00000248923.4_Intron	p.V168L	NM_207644.2	NP_997527.2	Q2VPJ9	LRC6X_HUMAN			4	525	-			168					Q08247|Q14404|Q8TBS1|Q9UMK1	Missense_Mutation	SNP	ENST00000248923.4	37	c.502G>T	CCDS42992.1	.	.	.	.	.	.	.	.	.	.	C	0.312	-0.967338	0.02232	.	.	ENSG00000178026	ENST00000318753	T	0.28666	1.6	3.48	-0.0272	0.13927	.	0.081533	0.48767	U	0.000171	T	0.14442	0.0349	L	0.31065	0.9	0.28598	N	0.909312	B	0.12013	0.005	B	0.11329	0.006	T	0.35847	-0.9772	10	0.02654	T	1	-5.3301	6.07	0.19883	0.0:0.6593:0.155:0.1857	.	168	Q2VPJ9	LRC6X_HUMAN	L	168	ENSP00000320520:V168L	ENSP00000320520:V168L	V	-	1	0	C22orf36	23312300	0.000000	0.05858	0.002000	0.10522	0.001000	0.01503	-0.126000	0.10563	-0.036000	0.13669	-0.254000	0.11334	GTG		0.617	GGT1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319110.1	NM_013430		7	355	1	0	0.000274275	1	0.000293866	7	355					A	24982300	C	A	24982300	1	1	105	0	1	0	0	0	0	0	0	0	2146	536	19	5		5	C22orf36	22	24982300	Intron	SNP	C	TCGA-EJ-7797-01A-11D-2260-08		24982300	26322266	53	5781											
PRAMEF11	440560	broad.mit.edu	37	chr1	12887550	12887550	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cacagtcaagggctgccgttCtctcatccttggacagtcct	7	11	9	14	1	3	0	2	0	1	0	6	1	5	1	3	2	1	2	3	2	1	2			TCGA-EJ-8468-01A-21D-2395-08	TCGA-EJ-8468-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3dfed002-b5bd-4fb8-abad-1fcd74db1b68	dc7c3b1b-f5f0-414c-8b07-2338277264c3	g.chr1:12887550C>T	ENST00000535591.1	-	3	502	c.307G>A	c.(307-309)Gaa>Aaa	p.E103K		NM_001146344.1	NP_001139816.1	O60813	PRA11_HUMAN	PRAME family member 11	103					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)					NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1)	27						GGCTGCCGTTCTCTCATCCTT	0.502																																						ENST00000535591.1																			0				NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1)	27						c.(307-309)Gaa>Aaa		PRAME family member 11																																				SO:0001583	missense	440560							g.chr1:12887550C>T	AL049680	CCDS53268.1	1p36.21	2013-01-17			ENSG00000204513	ENSG00000239810		"-"	14086	protein-coding gene	gene with protein product							Standard	XM_006710645		Approved		uc001auk.2	O60813	OTTHUMG00000001929	ENST00000535591.1:c.307G>A	1.37:g.12887550C>T	ENSP00000439551:p.Glu103Lys						p.E103K	NM_001146344.1	NP_001139816.1	O60813	PRA11_HUMAN			3	502	-			103						Missense_Mutation	SNP	ENST00000535591.1	37	c.307G>A	CCDS53268.1	.	.	.	.	.	.	.	.	.	.	.	0.521	-0.862357	0.02610	.	.	ENSG00000204513	ENST00000535591;ENST00000331684;ENST00000437584	T;T	0.04654	3.58;3.58	1.48	-2.96	0.05547	.	3.942340	0.00939	N	0.002815	T	0.04092	0.0114	L	0.39566	1.225	0.09310	N	1	B	0.12013	0.005	B	0.15052	0.012	T	0.39961	-0.9588	10	0.06494	T	0.89	.	4.6731	0.12699	0.0:0.3117:0.513:0.1753	.	103	O60813	PRA11_HUMAN	K	103;144;103	ENSP00000439551:E103K;ENSP00000391839:E103K	ENSP00000328783:E144K	E	-	1	0	PRAMEF11	12810137	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.065000	0.03458	-1.019000	0.03358	-0.498000	0.04607	GAA		0.502	PRAMEF11-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		XM_496341		66	244	0	0	0	1	0	66	244					T	12887550	C	T	12887550	3	4	106	1	0	0	0	0	1	0	0	0	12427	922	32	3	1011	3	PRAMEF11	1	12887550	Missense_Mutation	SNP	C	TCGA-EJ-8468-01A-21D-2395-08		12887550	236363071	1	5782											
MACF1	23499	broad.mit.edu	37	chr1	39907713	39907717	+	Frame_Shift_Del	DEL	AAATG	AAATG	-																															aatactgttaaagatcagttAaatgaaatgaaggtttgtat																										TCGA-EJ-8468-01A-21D-2395-08	TCGA-EJ-8468-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3dfed002-b5bd-4fb8-abad-1fcd74db1b68	dc7c3b1b-f5f0-414c-8b07-2338277264c3	g.chr1:39907713_39907717delAAATG	ENST00000372915.3	+	74	18546_18550	c.18459_18463delAAATG	c.(18457-18465)ttaaatgaafs	p.NE6154fs	MACF1_ENST00000317713.7_Frame_Shift_Del_p.NE4196fs|MACF1_ENST00000564288.1_Frame_Shift_Del_p.NE6255fs|MACF1_ENST00000539005.1_Frame_Shift_Del_p.NE4066fs|MACF1_ENST00000289893.4_Frame_Shift_Del_p.NE4698fs|MACF1_ENST00000567887.1_Frame_Shift_Del_p.NE6292fs|MACF1_ENST00000361689.2_Frame_Shift_Del_p.NE4196fs|MACF1_ENST00000545844.1_Frame_Shift_Del_p.NE4196fs			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	6154					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			AAGATCAGTTAAATGAAATGAAGGT	0.356																																						ENST00000564288.1																			0				breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203						c.(18760-18768)ttaafs		microtubule-actin crosslinking factor 1																																				SO:0001589	frameshift_variant	23499				cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding	g.chr1:39907713_39907717delAAATG	AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"EF-hand domain containing"	13664	protein-coding gene	gene with protein product	"actin cross-linking factor", "620 kDa actin binding protein", "macrophin 1", "trabeculin-alpha", "actin cross-linking family protein 7"	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.18459_18463delAAATG	1.37:g.39907718_39907722delAAATG	ENSP00000362006:p.Asn6154fs					MACF1_ENST00000289893.4_Frame_Shift_Del_p.LNE4697fs|MACF1_ENST00000567887.1_Frame_Shift_Del_p.LNE6291fs|MACF1_ENST00000545844.1_Frame_Shift_Del_p.LNE4195fs|MACF1_ENST00000372915.3_Frame_Shift_Del_p.LNE6153fs|MACF1_ENST00000317713.7_Frame_Shift_Del_p.LNE4195fs|MACF1_ENST00000361689.2_Frame_Shift_Del_p.LNE4195fs|MACF1_ENST00000539005.1_Frame_Shift_Del_p.LNE4065fs	p.LNE6254fs			Q9UPN3	MACF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)		75	19539_19543	+	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	6263					B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Frame_Shift_Del	DEL	ENST00000372915.3	37	c.18762_18766delAAATG																																																																																					0.356	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1	NM_033044		14	64						14	64	---	---	---	---	-	39907717	AAATG	-	39907713	7	5	106	1	0	1	0	1	0	0	0	0	9144	359	13	0	19018	0	MACF1	1	39907713	Frame_Shift_Del	DEL	AAATG	TCGA-EJ-8468-01A-21D-2395-08	27020163	39907713	209342908	2	5783											
GBP4	115361	broad.mit.edu	37	chr1	89652043	89652043	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgtgttttagcagcctttcAtgctctctgagaaggttttc	6	18	9	8	0	2	1	1	1	1	1	4	2	2	1	1	1	3	4	1	1	2	6			TCGA-EJ-8468-01A-21D-2395-08	TCGA-EJ-8468-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3dfed002-b5bd-4fb8-abad-1fcd74db1b68	dc7c3b1b-f5f0-414c-8b07-2338277264c3	g.chr1:89652043A>T	ENST00000355754.6	-	10	1777	c.1680T>A	c.(1678-1680)caT>caA	p.H560Q	GBP4_ENST00000471938.1_5'Flank	NM_052941.4	NP_443173.2	Q96PP9	GBP4_HUMAN	guanylate binding protein 4	560						cytoplasm (GO:0005737)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(19)|skin(1)|stomach(2)|urinary_tract(1)	33				all cancers(265;0.00723)|Epithelial(280;0.0291)		GCAGCCTTTCATGCTCTCTGA	0.478																																						ENST00000355754.6																			0				central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(19)|skin(1)|stomach(2)|urinary_tract(1)	33						c.(1678-1680)caT>caA		guanylate binding protein 4							201	152	169					1																	89652043		2203	4300	6503	SO:0001583	missense	115361					cytoplasm	GTP binding|GTPase activity	g.chr1:89652043A>T	AF288814	CCDS721.1	1p22.2	2008-02-05			ENSG00000162654	ENSG00000162654			20480	protein-coding gene	gene with protein product		612466				16689661	Standard	NM_052941		Approved	Mpa2	uc001dnb.3	Q96PP9	OTTHUMG00000010663	ENST00000355754.6:c.1680T>A	1.37:g.89652043A>T	ENSP00000359490:p.His560Gln						p.H560Q	NM_052941.4	NP_443173.2	Q96PP9	GBP4_HUMAN		all cancers(265;0.00723)|Epithelial(280;0.0291)	10	1777	-			560					B2R630|Q05D63|Q6NSL0|Q86T99	Missense_Mutation	SNP	ENST00000355754.6	37	c.1680T>A	CCDS721.1	.	.	.	.	.	.	.	.	.	.	A	0.018	-1.479204	0.01035	.	.	ENSG00000162654	ENST00000355754	T	0.46819	0.86	4.39	-6.0	0.02206	Guanylate-binding protein, C-terminal (3);	0.530488	0.20312	N	0.094806	T	0.01835	0.0058	N	0.00583	-1.355	0.09310	N	1	B	0.06786	0.001	B	0.09377	0.004	T	0.29427	-1.0012	10	0.02654	T	1	.	0.4462	0.00494	0.2112:0.283:0.1974:0.3084	.	560	Q96PP9	GBP4_HUMAN	Q	560	ENSP00000359490:H560Q	ENSP00000359490:H560Q	H	-	3	2	GBP4	89424631	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.886000	0.04157	-1.027000	0.03325	-2.414000	0.00220	CAT		0.478	GBP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029409.1	NM_052941		19	78	0	0	0	1	0	19	78					T	89652043	A	T	89652043	3	4	106	1	0	0	0	0	1	0	0	0	6276	214	8	5	250	5	GBP4	1	89652043	Missense_Mutation	SNP	A	TCGA-EJ-8468-01A-21D-2395-08	49744330	89652043	159598578	3	5784											
HMCN1	83872	broad.mit.edu	37	chr1	186136032	186136032	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atcgctgtgtggtccgttgtGgaagtggctttcgaagaacc	7	12	14	8	3	0	1	0	0	0	1	3	3	1	2	2	3	1	3	2	3	3	2			TCGA-EJ-8468-01A-21D-2395-08	TCGA-EJ-8468-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3dfed002-b5bd-4fb8-abad-1fcd74db1b68	dc7c3b1b-f5f0-414c-8b07-2338277264c3	g.chr1:186136032G>A	ENST00000271588.4	+	100	15761	c.15532G>A	c.(15532-15534)Gga>Aga	p.G5178R	HMCN1_ENST00000367492.2_Missense_Mutation_p.G5178R	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	5178	EGF-like 2; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						GGTCCGTTGTGGAAGTGGCTT	0.453																																						ENST00000271588.4																			0				NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						c.(15532-15534)Gga>Aga		hemicentin 1							220	188	199					1																	186136032		2203	4300	6503	SO:0001583	missense	83872				response to stimulus|visual perception	basement membrane	calcium ion binding	g.chr1:186136032G>A	AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"Fibulins", "Immunoglobulin superfamily / I-set domain containing"	19194	protein-coding gene	gene with protein product	"fibulin 6"	608548	"age-related macular degeneration 1 (senile macular degeneration)"	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.15532G>A	1.37:g.186136032G>A	ENSP00000271588:p.Gly5178Arg					HMCN1_ENST00000367492.2_Missense_Mutation_p.G5178R	p.G5178R	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN			100	15761	+			5178			EGF-like 2; calcium-binding (Potential).		A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Missense_Mutation	SNP	ENST00000271588.4	37	c.15532G>A	CCDS30956.1	.	.	.	.	.	.	.	.	.	.	G	14.45	2.539053	0.45176	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	D;D	0.87256	-2.23;-2.23	5.39	5.39	0.77823	EGF-like calcium-binding (2);	0.094003	0.64402	D	0.000001	T	0.74658	0.3745	N	0.02225	-0.63	0.58432	D	0.999999	B	0.33477	0.413	B	0.38616	0.277	T	0.76462	-0.2950	10	0.37606	T	0.19	.	14.7787	0.69749	0.0716:0.0:0.9284:0.0	.	5178	Q96RW7	HMCN1_HUMAN	R	5178	ENSP00000271588:G5178R;ENSP00000356462:G5178R	ENSP00000271588:G5178R	G	+	1	0	HMCN1	184402655	1.000000	0.71417	0.960000	0.40013	0.429000	0.31625	7.359000	0.79477	2.677000	0.91161	0.655000	0.94253	GGA		0.453	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935		17	57	0	0	0	1	0	17	57					A	186136032	G	A	186136032	3	1	106	1	0	0	0	0	1	0	0	0	7220	1349	47	3	15930	3	HMCN1	1	186136032	Missense_Mutation	SNP	G	TCGA-EJ-8468-01A-21D-2395-08	96483989	186136032	63114589	4	5785											
TMEM169	92691	broad.mit.edu	37	chr2	216964862	216964862	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccccatgtggtcctctggaCgctgatctgcctgcctgtgg	3	11	13	14	1	2	1	0	1	2	0	3	2	3	2	5	3	2	1	5	3	0	0			TCGA-EJ-8468-01A-21D-2395-08	TCGA-EJ-8468-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3dfed002-b5bd-4fb8-abad-1fcd74db1b68	dc7c3b1b-f5f0-414c-8b07-2338277264c3	g.chr2:216964862C>T	ENST00000295658.4	+	3	698	c.491C>T	c.(490-492)aCg>aTg	p.T164M	TMEM169_ENST00000437356.2_Missense_Mutation_p.T164M|TMEM169_ENST00000454545.1_Missense_Mutation_p.T164M|TMEM169_ENST00000406027.2_Missense_Mutation_p.T164M	NM_001142311.1|NM_001142312.1|NM_138390.3	NP_001135783.1|NP_001135784.1|NP_612399.1	Q96HH4	TM169_HUMAN	transmembrane protein 169	164						integral component of membrane (GO:0016021)				breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(2)	13		Renal(323;0.0651)		Epithelial(149;6.44e-06)|all cancers(144;0.000398)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GTCCTCTGGACGCTGATCTGC	0.502																																						ENST00000454545.1																			0				breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(2)	13						c.(490-492)aCg>aTg		transmembrane protein 169							177	160	166					2																	216964862		2203	4300	6503	SO:0001583	missense	92691					integral to membrane		g.chr2:216964862C>T	AK091582	CCDS2401.1	2q35	2008-02-05			ENSG00000163449	ENSG00000163449			25130	protein-coding gene	gene with protein product						12477932	Standard	NM_001142310		Approved	FLJ34263	uc002vfv.4	Q96HH4	OTTHUMG00000133053	ENST00000295658.4:c.491C>T	2.37:g.216964862C>T	ENSP00000295658:p.Thr164Met					TMEM169_ENST00000406027.2_Missense_Mutation_p.T164M|TMEM169_ENST00000295658.4_Missense_Mutation_p.T164M|TMEM169_ENST00000437356.2_Missense_Mutation_p.T164M	p.T164M	NM_001142310.1	NP_001135782.1	Q96HH4	TM169_HUMAN		Epithelial(149;6.44e-06)|all cancers(144;0.000398)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	4	817	+		Renal(323;0.0651)	164					B2R8W6	Missense_Mutation	SNP	ENST00000295658.4	37	c.491C>T	CCDS2401.1	.	.	.	.	.	.	.	.	.	.	C	23.1	4.378238	0.82682	.	.	ENSG00000163449	ENST00000454545;ENST00000437356;ENST00000295658;ENST00000406027	.	.	.	4.93	4.93	0.64822	.	0.043207	0.85682	D	0.000000	T	0.67458	0.2895	L	0.51422	1.61	0.44247	D	0.997097	D	0.89917	1.0	D	0.65773	0.938	T	0.65689	-0.6107	8	.	.	.	-0.9986	13.0967	0.59197	0.0:0.8391:0.1609:0.0	.	164	Q96HH4	TM169_HUMAN	M	164	.	.	T	+	2	0	TMEM169	216673107	1.000000	0.71417	0.995000	0.50966	0.988000	0.76386	5.523000	0.67099	2.550000	0.86006	0.655000	0.94253	ACG		0.502	TMEM169-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256666.2	NM_138390		8	101	0	0	0	1	0	8	101					T	216964862	C	T	216964862	3	4	106	1	0	0	0	0	1	0	0	0	16081	536	19	1	497	1	TMEM169	2	216964862	Missense_Mutation	SNP	C	TCGA-EJ-8468-01A-21D-2395-08		216964862	26234511	5	5786											
ALPI	248	broad.mit.edu	37	chr2	233323610	233323610	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggcggcggtgcccctgtcGtccgagacccacggaggcga	6	4	16	15	6	0	1	0	0	0	1	2	4	1	2	4	5	1	0	4	5	0	0			TCGA-EJ-8468-01A-21D-2395-08	TCGA-EJ-8468-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3dfed002-b5bd-4fb8-abad-1fcd74db1b68	dc7c3b1b-f5f0-414c-8b07-2338277264c3	g.chr2:233323610G>A	ENST00000295463.3	+	11	1418	c.1341G>A	c.(1339-1341)tcG>tcA	p.S447S		NM_001631.3	NP_001622.2	P09923	PPBI_HUMAN	alkaline phosphatase, intestinal	447					dephosphorylation (GO:0016311)	anchored component of membrane (GO:0031225)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alkaline phosphatase activity (GO:0004035)|magnesium ion binding (GO:0000287)|protease binding (GO:0002020)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|prostate(2)|upper_aerodigestive_tract(1)	24		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;1.64e-16)|Kidney(3;9.71e-08)|KIRC - Kidney renal clear cell carcinoma(3;2.74e-06)|BRCA - Breast invasive adenocarcinoma(100;0.000763)|Lung(119;0.00564)|LUSC - Lung squamous cell carcinoma(224;0.00746)		TGCCCCTGTCGTCCGAGACCC	0.692																																						ENST00000295463.3																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|prostate(2)|upper_aerodigestive_tract(1)	24						c.(1339-1341)tcG>tcA		alkaline phosphatase, intestinal							19	22	21					2																	233323610		2191	4293	6484	SO:0001819	synonymous_variant	248				phosphorylation	anchored to membrane|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding|protein binding	g.chr2:233323610G>A	M15694	CCDS2492.1	2q37.1	2008-02-05			ENSG00000163295	ENSG00000163295	3.1.3.1		437	protein-coding gene	gene with protein product		171740				3468508, 3469665	Standard	NM_001631		Approved		uc002vst.4	P09923	OTTHUMG00000133258	ENST00000295463.3:c.1341G>A	2.37:g.233323610G>A							p.S447S	NM_001631.3	NP_001622.2	P09923	PPBI_HUMAN		Epithelial(121;1.64e-16)|Kidney(3;9.71e-08)|KIRC - Kidney renal clear cell carcinoma(3;2.74e-06)|BRCA - Breast invasive adenocarcinoma(100;0.000763)|Lung(119;0.00564)|LUSC - Lung squamous cell carcinoma(224;0.00746)	11	1418	+		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)	447					B2R7Y4|Q53S80|Q9UBV5|Q9UCL2	Silent	SNP	ENST00000295463.3	37	c.1341G>A	CCDS2492.1																																																																																				0.692	ALPI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257035.2	NM_001631		4	15	0	0	0	1	0	4	15					A	233323610	G	A	233323610	2	1	106	1	0	0	0	0	0	0	0	1	543	1132	40	1		1	ALPI	2	233323610	Silent	SNP	G	TCGA-EJ-8468-01A-21D-2395-08	16358748	233323610	9875763	6	5787											
NAALADL2	254827	broad.mit.edu	37	chr3	175165149	175165149	+	Frame_Shift_Del	DEL	T	T	-																															agcgtgtagctctctagagcTtccaaataatggtaaagtat																										TCGA-EJ-8468-01A-21D-2395-08	TCGA-EJ-8468-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3dfed002-b5bd-4fb8-abad-1fcd74db1b68	dc7c3b1b-f5f0-414c-8b07-2338277264c3	g.chr3:175165149delT	ENST00000454872.1	+	6	1351	c.1223delT	c.(1222-1224)cttfs	p.L408fs	NAALADL2_ENST00000473253.1_3'UTR	NM_207015.2	NP_996898.2	Q58DX5	NADL2_HUMAN	N-acetylated alpha-linked acidic dipeptidase-like 2	408						integral component of membrane (GO:0016021)				central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(20)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	49	Ovarian(172;0.0102)	all_cancers(1;0.0272)|all_epithelial(1;0.0553)	OV - Ovarian serous cystadenocarcinoma(80;9.26e-28)	Colorectal(1;1.66e-10)|COAD - Colon adenocarcinoma(1;2.1e-07)|STAD - Stomach adenocarcinoma(1;0.00261)|READ - Rectum adenocarcinoma(3;0.0284)		TCTCTAGAGCTTCCAAATAAT	0.368																																						ENST00000454872.1																			0				central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(20)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	49						c.(1222-1224)ctfs		N-acetylated alpha-linked acidic dipeptidase-like 2							47	43	44					3																	175165149		1862	4091	5953	SO:0001589	frameshift_variant	254827				proteolysis	integral to membrane	peptidase activity	g.chr3:175165149delT		CCDS46960.1	3q26.3	2011-08-16			ENSG00000177694	ENSG00000177694			23219	protein-coding gene	gene with protein product	"glutamate carboxypeptidase II-type non-peptidase homologue"	608806				15168106	Standard	NM_207015		Approved		uc003fir.3	Q58DX5	OTTHUMG00000157120	ENST00000454872.1:c.1223delT	3.37:g.175165149delT	ENSP00000404705:p.Leu408fs					NAALADL2_ENST00000473253.1_3'UTR	p.L408fs	NM_207015.2	NP_996898.2	Q58DX5	NADL2_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;9.26e-28)	Colorectal(1;1.66e-10)|COAD - Colon adenocarcinoma(1;2.1e-07)|STAD - Stomach adenocarcinoma(1;0.00261)|READ - Rectum adenocarcinoma(3;0.0284)	6	1351	+	Ovarian(172;0.0102)	all_cancers(1;0.0272)|all_epithelial(1;0.0553)	408					Q658X9|Q6H9J8|Q6H9J9|Q6PG38	Frame_Shift_Del	DEL	ENST00000454872.1	37	c.1223delT	CCDS46960.1																																																																																				0.368	NAALADL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347390.2	NM_207015		2	4						2	4	---	---	---	---	-	175165149	T	-	175165149	7	5	106	1	0	1	0	1	0	0	0	0	10130	1609	56	0	1245	0	NAALADL2	3	175165149	Frame_Shift_Del	DEL	T	TCGA-EJ-8468-01A-21D-2395-08		175165149	22857281	7	5788											
UGT2B28	54490	broad.mit.edu	37	chr4	70146412	70146412	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcagcttccattctttttgAtcccaatgacgcattcactc	8	16	4	13	1	3	2	2	2	1	0	6	2	5	2	2	0	1	2	2	0	1	6			TCGA-EJ-8468-01A-21D-2395-08	TCGA-EJ-8468-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3dfed002-b5bd-4fb8-abad-1fcd74db1b68	dc7c3b1b-f5f0-414c-8b07-2338277264c3	g.chr4:70146412A>G	ENST00000335568.5	+	1	196	c.194A>G	c.(193-195)gAt>gGt	p.D65G	UGT2B28_ENST00000511240.1_Missense_Mutation_p.D65G	NM_053039.1	NP_444267.1	Q9BY64	UDB28_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B28	65					metabolic process (GO:0008152)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	31						ATTCTTTTTGATCCCAATGAC	0.383																																						ENST00000335568.5																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	31						c.(193-195)gAt>gGt		UDP glucuronosyltransferase 2 family, polypeptide B28	Flunitrazepam(DB01544)						107	127	120					4																	70146412		2053	4238	6291	SO:0001583	missense	54490				xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	g.chr4:70146412A>G	AF177272	CCDS3528.1, CCDS56330.1	4q13.3	2011-02-09	2005-07-20		ENSG00000135226	ENSG00000135226		"UDP glucuronosyltransferases"	13479	protein-coding gene	gene with protein product		606497	"UDP glycosyltransferase 2 family, polypeptide B28"			11300766	Standard	NM_053039		Approved		uc003hej.3	Q9BY64	OTTHUMG00000129401	ENST00000335568.5:c.194A>G	4.37:g.70146412A>G	ENSP00000334276:p.Asp65Gly					UGT2B28_ENST00000511240.1_Missense_Mutation_p.D65G	p.D65G	NM_053039.1	NP_444267.1	Q9BY64	UDB28_HUMAN			1	196	+			65					B5BUM0|Q9BY62|Q9BY63	Missense_Mutation	SNP	ENST00000335568.5	37	c.194A>G	CCDS3528.1	.	.	.	.	.	.	.	.	.	.	-	7.558	0.664142	0.14710	.	.	ENSG00000135226	ENST00000335568;ENST00000511240	T;T	0.59906	0.23;0.23	2.18	0.751	0.18392	.	0.265381	0.30483	U	0.009525	T	0.38719	0.1051	L	0.33753	1.03	0.09310	N	1	B;B	0.21606	0.058;0.005	B;B	0.25987	0.065;0.02	T	0.17837	-1.0356	10	0.17832	T	0.49	.	5.6871	0.17809	0.8414:0.0:0.1586:0.0	.	65;65	Q9BY64-2;Q9BY64	.;UDB28_HUMAN	G	65	ENSP00000334276:D65G;ENSP00000427399:D65G	ENSP00000334276:D65G	D	+	2	0	UGT2B28	70181001	0.013000	0.17824	0.002000	0.10522	0.013000	0.08279	1.992000	0.40737	0.066000	0.16515	0.155000	0.16302	GAT		0.383	UGT2B28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251557.2	NM_053039		2	4	0	0	0	1	0	2	4					G	70146412	A	G	70146412	3	3	106	1	0	0	0	0	1	0	0	0	16957	333	12	4	196	4	UGT2B28	4	70146412	Missense_Mutation	SNP	A	TCGA-EJ-8468-01A-21D-2395-08		70146412	121007864	8	5789											
TRPC3	7222	broad.mit.edu	37	chr4	122824123	122824123	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aaatgattttggactaggaaCtagactgaaaggtggaggta	15	10	13	3	0	0	3	0	2	0	1	0	6	0	6	0	5	1	1	0	5	6	5			TCGA-EJ-8468-01A-21D-2395-08	TCGA-EJ-8468-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3dfed002-b5bd-4fb8-abad-1fcd74db1b68	dc7c3b1b-f5f0-414c-8b07-2338277264c3	g.chr4:122824123C>A	ENST00000379645.3	-	9	2420	c.2347G>T	c.(2347-2349)Gtt>Ttt	p.V783F	TRPC3_ENST00000513531.1_Missense_Mutation_p.V655F|TRPC3_ENST00000264811.5_Missense_Mutation_p.V710F	NM_001130698.1	NP_001124170.1	Q13507	TRPC3_HUMAN	transient receptor potential cation channel, subfamily C, member 3	698	Binds to IP3R3.				axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|phototransduction (GO:0007602)|platelet activation (GO:0030168)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of cardiac muscle hypertrophy in response to stress (GO:1903244)|response to ATP (GO:0033198)|response to calcium ion (GO:0051592)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|inositol 1,4,5 trisphosphate binding (GO:0070679)|store-operated calcium channel activity (GO:0015279)			NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(12)|lung(13)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						GGACTAGGAACTAGACTGAAA	0.378																																						ENST00000264811.5																			0				NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(12)|lung(13)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						c.(2128-2130)Gtt>Ttt		transient receptor potential cation channel, subfamily C, member 3							113	110	111					4																	122824123		2203	4300	6503	SO:0001583	missense	7222				axon guidance|phototransduction|platelet activation	integral to plasma membrane	protein binding|store-operated calcium channel activity	g.chr4:122824123C>A	Y13758	CCDS3725.1, CCDS47130.1	4q27	2011-12-14			ENSG00000138741	ENSG00000138741		"Voltage-gated ion channels / Transient receptor potential cation channels"	12335	protein-coding gene	gene with protein product		602345				8646775, 16382100	Standard	NM_003305		Approved		uc003ieg.2	Q13507	OTTHUMG00000133069	ENST00000379645.3:c.2347G>T	4.37:g.122824123C>A	ENSP00000368966:p.Val783Phe					TRPC3_ENST00000513531.1_Missense_Mutation_p.V655F|TRPC3_ENST00000379645.3_Missense_Mutation_p.V783F	p.V710F	NM_003305.2	NP_003296.1	Q13507	TRPC3_HUMAN			8	2546	-			698					A7VJS1|E9PCJ9|O00593|Q15660|Q52M35|Q5G1L5	Missense_Mutation	SNP	ENST00000379645.3	37	c.2128G>T	CCDS47130.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.026820	0.75390	.	.	ENSG00000138741	ENST00000264811;ENST00000379645;ENST00000513531	D;D;D	0.85258	-1.96;-1.96;-1.96	5.77	5.77	0.91146	.	0.000000	0.64402	D	0.000002	D	0.83330	0.5231	L	0.45352	1.415	0.80722	D	1	B;B;B	0.17667	0.01;0.023;0.023	B;B;B	0.23419	0.019;0.046;0.046	T	0.77960	-0.2391	10	0.54805	T	0.06	-11.259	19.9944	0.97379	0.0:1.0:0.0:0.0	.	698;655;783	Q13507;E9PCJ9;Q5G1L5	TRPC3_HUMAN;.;.	F	710;783;655	ENSP00000264811:V710F;ENSP00000368966:V783F;ENSP00000426899:V655F	ENSP00000264811:V710F	V	-	1	0	TRPC3	123043573	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.855000	0.62925	2.720000	0.93068	0.557000	0.71058	GTT		0.378	TRPC3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364252.1	NM_003305		13	56	1	0	0.00010058	1	0.000105486	13	56					A	122824123	C	A	122824123	3	1	106	1	0	0	0	0	1	0	0	0	16576	565	20	5	434	5	TRPC3	4	122824123	Missense_Mutation	SNP	C	TCGA-EJ-8468-01A-21D-2395-08	52677711	122824123	68330153	9	5790											
CHD1	1105	broad.mit.edu	37	chr5	98205472	98205473	+	Frame_Shift_Ins	INS	-	-	AT																															cttactttatcatcatcttcINSatcagacttctctgaaggca																										TCGA-EJ-8468-01A-21D-2395-08	TCGA-EJ-8468-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3dfed002-b5bd-4fb8-abad-1fcd74db1b68	dc7c3b1b-f5f0-414c-8b07-2338277264c3	g.chr5:98205472_98205473insAT	ENST00000284049.3	-	29	4241_4242	c.4092_4093insAT	c.(4090-4095)gatgaafs	p.E1365fs	CHD1_ENST00000511067.1_5'UTR	NM_001270.2	NP_001261.2	O14646	CHD1_HUMAN	chromodomain helicase DNA binding protein 1	1365					chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|methylated histone binding (GO:0035064)			NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	49		all_cancers(142;5.36e-08)|all_epithelial(76;6.97e-11)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|all_lung(232;0.00119)|Ovarian(225;0.024)|Colorectal(57;0.117)		COAD - Colon adenocarcinoma(37;0.0717)	Epirubicin(DB00445)	TCATCATCTTCATCAGACTTCT	0.317																																						ENST00000284049.3																			0				NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	49						c.(4090-4095)gaaagafs		chromodomain helicase DNA binding protein 1	Epirubicin(DB00445)																																			SO:0001589	frameshift_variant	1105				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|methylated histone residue binding	g.chr5:98205472_98205473insAT	AF006513	CCDS34204.1	5q15-q21	2008-07-18			ENSG00000153922	ENSG00000153922			1915	protein-coding gene	gene with protein product		602118				8460153, 9326634	Standard	XM_005271866		Approved		uc003knf.3	O14646	OTTHUMG00000162744	ENST00000284049.3:c.4091_4092dupAT	5.37:g.98205473_98205474dupAT	ENSP00000284049:p.Glu1365fs					CHD1_ENST00000511067.1_5'UTR	p.R1365fs	NM_001270.2	NP_001261.2	O14646	CHD1_HUMAN		COAD - Colon adenocarcinoma(37;0.0717)	29	4241_4242	-		all_cancers(142;5.36e-08)|all_epithelial(76;6.97e-11)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|all_lung(232;0.00119)|Ovarian(225;0.024)|Colorectal(57;0.117)	1365					Q17RZ3	Frame_Shift_Ins	INS	ENST00000284049.3	37	c.4092_4093insAT	CCDS34204.1																																																																																				0.317	CHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370295.1	NM_001270		18	22						18	22	---	---	---	---	AT	98205473	-	AT	98205472	7	5	106	1	0	1	1	0	0	0	0	0	3323	835	29	0	1067	0	CHD1	5	98205472	Frame_Shift_Ins	INS	-	TCGA-EJ-8468-01A-21D-2395-08		98205472	82709788	10	5791											
VARS2	57176	broad.mit.edu	37	chr6	30884980	30884980	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aactggtcatgtgctttaagAtcagccatctcggacattga	11	12	9	9	1	3	2	2	1	1	1	4	3	3	3	1	2	3	1	1	2	2	3			TCGA-EJ-8468-01A-21D-2395-08	TCGA-EJ-8468-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3dfed002-b5bd-4fb8-abad-1fcd74db1b68	dc7c3b1b-f5f0-414c-8b07-2338277264c3	g.chr6:30884980A>T	ENST00000321897.5	+	8	1484	c.852A>T	c.(850-852)agA>agT	p.R284S	VARS2_ENST00000416670.2_Missense_Mutation_p.R284S|VARS2_ENST00000542001.1_Missense_Mutation_p.R144S|VARS2_ENST00000541562.1_Missense_Mutation_p.R314S			Q5ST30	SYVM_HUMAN	valyl-tRNA synthetase 2, mitochondrial	284					gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)|valyl-tRNA aminoacylation (GO:0006438)	mitochondrion (GO:0005739)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|valine-tRNA ligase activity (GO:0004832)			central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(3)|prostate(3)|skin(4)|urinary_tract(1)	46						GTGCTTTAAGATCAGCCATCT	0.537																																						ENST00000321897.5																			0				central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(3)|prostate(3)|skin(4)|urinary_tract(1)	46						c.(850-852)agA>agT		valyl-tRNA synthetase 2, mitochondrial							192	189	190					6																	30884980		1511	2709	4220	SO:0001583	missense	57176				valyl-tRNA aminoacylation	mitochondrion	ATP binding|valine-tRNA ligase activity	g.chr6:30884980A>T	AB067472	CCDS34387.1, CCDS54980.1	6p21.33	2012-10-26	2012-10-26	2007-02-23	ENSG00000137411	ENSG00000137411	6.1.1.9	"Aminoacyl tRNA synthetases / Class I"	21642	protein-coding gene	gene with protein product	"valine tRNA ligase 2, mitochondrial"	612802	"valyl-tRNA synthetase 2-like", "valyl-tRNA synthetase like", "valyl-tRNA synthetase 2, mitochondrial (putative)"	VARS2L, VARSL		1898367, 11572484, 18400783	Standard	NM_001167734		Approved	DKFZP434L1435, KIAA1885, G7a	uc011dmz.2	Q5ST30	OTTHUMG00000031263	ENST00000321897.5:c.852A>T	6.37:g.30884980A>T	ENSP00000316092:p.Arg284Ser					VARS2_ENST00000542001.1_Missense_Mutation_p.R144S|VARS2_ENST00000541562.1_Missense_Mutation_p.R314S|VARS2_ENST00000416670.2_Missense_Mutation_p.R284S	p.R284S			Q5ST30	SYVM_HUMAN			8	1484	+			284					A2ABL7|B4DET4|B4E3P5|F5GXJ0|F5H323|Q2M2A0|Q59FI1|Q5SQ96|Q5SS98|Q6DKJ5|Q6ZV24|Q96GN2|Q96H77|Q96Q02|Q9H6R2|Q9UFH7	Missense_Mutation	SNP	ENST00000321897.5	37	c.852A>T	CCDS34387.1	.	.	.	.	.	.	.	.	.	.	A	16.61	3.172245	0.57584	.	.	ENSG00000137411	ENST00000321897;ENST00000416670;ENST00000542001;ENST00000428017;ENST00000541562	T;T;T;T;T	0.21932	1.98;1.98;1.98;1.98;1.98	4.81	-0.435	0.12279	Rossmann-like alpha/beta/alpha sandwich fold (1);Aminoacyl-tRNA synthetase, class Ia (1);	0.526452	0.19656	N	0.109090	T	0.04048	0.0113	L	0.39633	1.23	0.29151	N	0.878393	B;P;B	0.36392	0.121;0.551;0.233	B;B;B	0.33454	0.122;0.164;0.098	T	0.30387	-0.9980	10	0.45353	T	0.12	-2.3768	0.8361	0.01140	0.3614:0.1726:0.2994:0.1666	.	284;314;284	B7ZL25;F5GXJ0;Q5ST30	.;.;SYVM_HUMAN	S	284;284;144;284;314	ENSP00000316092:R284S;ENSP00000394802:R284S;ENSP00000438200:R144S;ENSP00000403749:R284S;ENSP00000441000:R314S	ENSP00000316092:R284S	R	+	3	2	VARS2	30992959	0.956000	0.32656	0.935000	0.37517	0.940000	0.58332	0.505000	0.22642	0.032000	0.15435	0.454000	0.30748	AGA		0.537	VARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076566.2	NM_020442		46	96	0	0	0	1	0	46	96					T	30884980	A	T	30884980	3	4	106	1	0	0	0	0	1	0	0	0	17121	330	12	5	976	5	VARS2	6	30884980	Missense_Mutation	SNP	A	TCGA-EJ-8468-01A-21D-2395-08		30884980	140230087	11	5792											
KCNS2	3788	broad.mit.edu	37	chr8	99440249	99440249	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacgtgtcggaggctaacgtCgaggacggggagatccgcat	9	6	17	9	6	0	1	0	0	0	1	3	6	1	3	1	5	1	2	1	5	1	1	rs372037161		TCGA-EJ-8468-01A-21D-2395-08	TCGA-EJ-8468-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3dfed002-b5bd-4fb8-abad-1fcd74db1b68	dc7c3b1b-f5f0-414c-8b07-2338277264c3	g.chr8:99440249C>A	ENST00000287042.4	+	2	392	c.42C>A	c.(40-42)gtC>gtA	p.V14V	KCNS2_ENST00000521839.1_Silent_p.V14V	NM_020697.2	NP_065748.1	Q9ULS6	KCNS2_HUMAN	potassium voltage-gated channel, delayed-rectifier, subfamily S, member 2	14					protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)			autonomic_ganglia(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	31	Breast(36;2.4e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.0448)			AGGCTAACGTCGAGGACGGGG	0.716																																					Pancreas(138;844 2489 9202 24627)	ENST00000287042.4																			0				autonomic_ganglia(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	31						c.(40-42)gtC>gtA		potassium voltage-gated channel, delayed-rectifier, subfamily S, member 2				1,4395		0,1,2197	26	24	25		42	4.4	1	8		25	0,8586		0,0,4293	no	coding-synonymous	KCNS2	NM_020697.2		0,1,6490	AA,AC,CC		0.0,0.0227,0.0077		14/478	99440249	1,12981	2198	4293	6491	SO:0001819	synonymous_variant	3788					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr8:99440249C>A	AB032970	CCDS6279.1	8q22	2011-07-05			ENSG00000156486	ENSG00000156486		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6301	protein-coding gene	gene with protein product		602906				9305895, 16382104	Standard	NM_020697		Approved	Kv9.2	uc003yin.3	Q9ULS6	OTTHUMG00000044337	ENST00000287042.4:c.42C>A	8.37:g.99440249C>A						KCNS2_ENST00000521839.1_Silent_p.V14V	p.V14V	NM_020697.2	NP_065748.1	Q9ULS6	KCNS2_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.0448)		2	392	+	Breast(36;2.4e-06)		14					A8KAN1	Silent	SNP	ENST00000287042.4	37	c.42C>A	CCDS6279.1																																																																																				0.716	KCNS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103134.1	NM_020697		4	14	1	0	0.00024832	1	0.000254232	4	14					A	99440249	C	A	99440249	2	1	106	1	0	0	0	0	0	0	0	1	8089	871	31	5		5	KCNS2	8	99440249	Silent	SNP	C	TCGA-EJ-8468-01A-21D-2395-08		99440249	46923773	12	5793											
CSMD3	114788	broad.mit.edu	37	chr8	113308118	113308118	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cctgttgacatatcctcactGaagaaccaatcaatcgaaaa	16	9	5	11	1	2	3	2	2	0	1	4	4	3	3	3	0	1	1	3	0	7	2			TCGA-EJ-8468-01A-21D-2395-08	TCGA-EJ-8468-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3dfed002-b5bd-4fb8-abad-1fcd74db1b68	dc7c3b1b-f5f0-414c-8b07-2338277264c3	g.chr8:113308118G>A	ENST00000297405.5	-	54	8802	c.8558C>T	c.(8557-8559)tCa>tTa	p.S2853L	CSMD3_ENST00000343508.3_Missense_Mutation_p.S2813L|CSMD3_ENST00000352409.3_Missense_Mutation_p.S2783L|CSMD3_ENST00000455883.2_Missense_Mutation_p.S2684L	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2853	Sushi 18. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TATCCTCACTGAAGAACCAAT	0.408										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												ENST00000297405.5																			0				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						c.(8557-8559)tCa>tTa		CUB and Sushi multiple domains 3							129	109	116					8																	113308118		2203	4300	6503	SO:0001583	missense	114788					integral to membrane|plasma membrane		g.chr8:113308118G>A	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.8558C>T	8.37:g.113308118G>A	ENSP00000297405:p.Ser2853Leu	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_ENST00000343508.3_Missense_Mutation_p.S2813L|CSMD3_ENST00000455883.2_Missense_Mutation_p.S2684L|CSMD3_ENST00000352409.3_Missense_Mutation_p.S2783L	p.S2853L	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN			54	8802	-			2853			Sushi 18.		Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	c.8558C>T	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	G	27.4	4.831497	0.91036	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.65364	-0.15;-0.15;-0.15;-0.15;-0.15	5.31	5.31	0.75309	Complement control module (2);Sushi/SCR/CCP (3);	0.000000	0.64402	D	0.000006	D	0.83571	0.5283	M	0.90145	3.09	0.58432	D	0.999999	D;D;B	0.89917	0.995;1.0;0.095	D;D;B	0.91635	0.995;0.999;0.051	D	0.86450	0.1772	10	0.59425	D	0.04	.	18.9718	0.92718	0.0:0.0:1.0:0.0	.	2684;2853;2813	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	L	2813;2853;2123;2684;2783	ENSP00000345799:S2813L;ENSP00000297405:S2853L;ENSP00000341558:S2123L;ENSP00000412263:S2684L;ENSP00000343124:S2783L	ENSP00000297405:S2853L	S	-	2	0	CSMD3	113377294	1.000000	0.71417	1.000000	0.80357	0.720000	0.41350	9.835000	0.99442	2.480000	0.83734	0.655000	0.94253	TCA		0.408	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		8	21	0	0	0	1	0	8	21					A	113308118	G	A	113308118	3	1	106	1	0	0	0	0	1	0	0	0	3946	1294	45	3	2637	3	CSMD3	8	113308118	Missense_Mutation	SNP	G	TCGA-EJ-8468-01A-21D-2395-08	13867869	113308118	33055904	13	5794											
LINGO2	158038	broad.mit.edu	37	chr9	27948977	27948977	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctttccctcggctccacaCaaaaaggagaagaaaacaaa	17	5	7	12	1	0	2	0	0	0	2	3	3	2	2	3	2	1	1	3	2	6	1			TCGA-EJ-8468-01A-21D-2395-08	TCGA-EJ-8468-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3dfed002-b5bd-4fb8-abad-1fcd74db1b68	dc7c3b1b-f5f0-414c-8b07-2338277264c3	g.chr9:27948977C>T	ENST00000379992.2	-	6	2142	c.1693G>A	c.(1693-1695)Gtg>Atg	p.V565M	LINGO2_ENST00000308675.3_Missense_Mutation_p.V565M	NM_152570.2	NP_689783.1	Q7L985	LIGO2_HUMAN	leucine rich repeat and Ig domain containing 2	565						integral component of membrane (GO:0016021)				autonomic_ganglia(1)|breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	44	Melanoma(11;0.242)	all_neural(11;2.78e-09)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0818)|GBM - Glioblastoma multiforme(2;1.31e-34)|all cancers(2;2.37e-25)|Lung(2;7.48e-08)|LUSC - Lung squamous cell carcinoma(38;5.09e-07)|KIRC - Kidney renal clear cell carcinoma(2;0.0465)|Kidney(2;0.0604)		CGGCTCCACACAAAAAGGAGA	0.453																																						ENST00000379992.2																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	44						c.(1693-1695)Gtg>Atg		leucine rich repeat and Ig domain containing 2							85	79	81					9																	27948977		2203	4300	6503	SO:0001583	missense	158038					integral to membrane		g.chr9:27948977C>T	AL353746	CCDS6524.1	9p21.2	2013-01-11	2007-02-01	2007-02-01	ENSG00000174482	ENSG00000174482		"Immunoglobulin superfamily / I-set domain containing"	21207	protein-coding gene	gene with protein product		609793	"leucine rich repeat neuronal 6C"	LRRN6C		14686891	Standard	NM_152570		Approved	LERN3	uc003zqu.2	Q7L985	OTTHUMG00000019721	ENST00000379992.2:c.1693G>A	9.37:g.27948977C>T	ENSP00000369328:p.Val565Met					LINGO2_ENST00000308675.3_Missense_Mutation_p.V565M	p.V565M	NM_152570.2	NP_689783.1	Q7L985	LIGO2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (5;0.0818)|GBM - Glioblastoma multiforme(2;1.31e-34)|all cancers(2;2.37e-25)|Lung(2;7.48e-08)|LUSC - Lung squamous cell carcinoma(38;5.09e-07)|KIRC - Kidney renal clear cell carcinoma(2;0.0465)|Kidney(2;0.0604)	6	2142	-	Melanoma(11;0.242)	all_neural(11;2.78e-09)	565					A8K4K7|B2RPM5|Q6ZMD0	Missense_Mutation	SNP	ENST00000379992.2	37	c.1693G>A	CCDS6524.1	.	.	.	.	.	.	.	.	.	.	C	14.96	2.691052	0.48097	.	.	ENSG00000174482	ENST00000379992;ENST00000308675	T;T	0.58210	0.35;0.35	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	T	0.66167	0.2762	L	0.51422	1.61	0.80722	D	1	D	0.59357	0.985	P	0.59948	0.866	T	0.60826	-0.7186	9	.	.	.	.	20.1184	0.97949	0.0:1.0:0.0:0.0	.	565	Q7L985	LIGO2_HUMAN	M	565	ENSP00000369328:V565M;ENSP00000310126:V565M	.	V	-	1	0	LINGO2	27938977	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.850000	0.62889	2.769000	0.95229	0.655000	0.94253	GTG		0.453	LINGO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051978.2	NM_152570		6	67	0	0	0	1	0	6	67					T	27948977	C	T	27948977	3	4	106	1	0	0	0	0	1	0	0	0	8815	478	17	3	131	3	LINGO2	9	27948977	Missense_Mutation	SNP	C	TCGA-EJ-8468-01A-21D-2395-08		27948977	113264454	14	5795											
MLL2	8085	broad.mit.edu	37	chr12	49432198	49432198	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gggcaacttcccagcttccaGggccagaggattggggcggc	7	6	16	12	1	0	1	0	0	0	1	2	2	2	2	3	6	2	2	3	6	1	3			TCGA-EJ-8468-01A-21D-2395-08	TCGA-EJ-8468-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3dfed002-b5bd-4fb8-abad-1fcd74db1b68	dc7c3b1b-f5f0-414c-8b07-2338277264c3	g.chr12:49432198G>C	ENST00000301067.7	-	34	8940	c.8941C>G	c.(8941-8943)Ctg>Gtg	p.L2981V	KMT2D_ENST00000549743.1_5'Flank	NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	2981					chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)										CCAGCTTCCAGGGCCAGAGGA	0.602																																						ENST00000301067.7																			0											c.(8941-8943)Ctg>Gtg		lysine (K)-specific methyltransferase 2D							66	69	68					12																	49432198		1976	4146	6122	SO:0001583	missense	8085							g.chr12:49432198G>C	AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	7133	protein-coding gene	gene with protein product		602113	"trinucleotide repeat containing 21", "myeloid/lymphoid or mixed-lineage leukemia 2"	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.8941C>G	12.37:g.49432198G>C	ENSP00000301067:p.Leu2981Val						p.L2981V	NM_003482.3	NP_003473.3					34	8940	-								O14687	Missense_Mutation	SNP	ENST00000301067.7	37	c.8941C>G	CCDS44873.1	.	.	.	.	.	.	.	.	.	.	G	8.396	0.840925	0.16891	.	.	ENSG00000167548	ENST00000301067	T	0.78364	-1.17	5.73	-1.46	0.08800	.	0.000000	0.30547	N	0.009389	T	0.66446	0.2790	N	0.22421	0.69	0.22424	N	0.999114	D	0.55172	0.97	P	0.48627	0.584	T	0.64837	-0.6313	10	0.87932	D	0	.	9.9359	0.41550	0.5629:0.0:0.4371:0.0	.	2981	O14686	MLL2_HUMAN	V	2981	ENSP00000301067:L2981V	ENSP00000301067:L2981V	L	-	1	2	MLL2	47718465	0.747000	0.28283	0.978000	0.43139	0.985000	0.73830	0.327000	0.19663	-0.217000	0.10033	-0.345000	0.07892	CTG		0.602	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2			4	61	0	0	0	1	0	4	61					C	49432198	G	C	49432198	3	2	106	1	0	0	0	0	1	0	0	0	9621	991	35	5	7756	5	MLL2	12	49432198	Missense_Mutation	SNP	G	TCGA-EJ-8468-01A-21D-2395-08		49432198	84419697	15	5796											
HOXC4	3221	broad.mit.edu	37	chr12	54448666	54448666	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ataacggaggggaacccaagCgctcgaggacagcctatacc	13	4	12	12	3	0	0	0	0	0	0	1	4	0	3	3	4	5	1	3	4	5	3	rs200111255		TCGA-EJ-8468-01A-21D-2395-08	TCGA-EJ-8468-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3dfed002-b5bd-4fb8-abad-1fcd74db1b68	dc7c3b1b-f5f0-414c-8b07-2338277264c3	g.chr12:54448666C>T	ENST00000430889.2	+	2	518	c.472C>T	c.(472-474)Cgc>Tgc	p.R158C	HOXC4_ENST00000609810.1_Missense_Mutation_p.R158C|HOXC4_ENST00000303406.4_Missense_Mutation_p.R158C	NM_153633.2	NP_705897.1	P09017	HXC4_HUMAN	homeobox C4	158			R -> L (in dbSNP:rs11835301).		multicellular organismal development (GO:0007275)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	13						GGAACCCAAGCGCTCGAGGAC	0.577													C|||	1	0.000199681	0	0	5008	,	,		12222	0		0.001	False		,,,				2504	0					ENST00000430889.2																			0				cervix(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	13						c.(472-474)Cgc>Tgc		homeobox C4							36	38	38					12																	54448666		2203	4300	6503	SO:0001583	missense	3221					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr12:54448666C>T		CCDS8873.1	12q13.13	2011-06-20	2005-12-22		ENSG00000198353	ENSG00000198353		"Homeoboxes / ANTP class : HOXL subclass"	5126	protein-coding gene	gene with protein product		142974	"homeo box C4"	HOX3, HOX3E		1973146, 1358459	Standard	NM_014620		Approved		uc001sex.3	P09017	OTTHUMG00000160036	ENST00000430889.2:c.472C>T	12.37:g.54448666C>T	ENSP00000399808:p.Arg158Cys					HOXC4_ENST00000303406.4_Missense_Mutation_p.R158C	p.R158C	NM_153633.2	NP_705897.1	P09017	HXC4_HUMAN			2	518	+			158		R -> L (in dbSNP:rs11835301).				Missense_Mutation	SNP	ENST00000430889.2	37	c.472C>T	CCDS8873.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	15.84	2.950658	0.53186	.	.	ENSG00000198353	ENST00000303406;ENST00000430889	D;D	0.97161	-4.27;-4.27	3.85	3.85	0.44370	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	D	0.98943	0.9641	H	0.98388	4.22	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98494	1.0611	10	0.87932	D	0	.	10.4796	0.44684	0.1948:0.8052:0.0:0.0	.	158	P09017	HXC4_HUMAN	C	158	ENSP00000305973:R158C;ENSP00000399808:R158C	ENSP00000305973:R158C	R	+	1	0	HOXC4	52734933	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	3.036000	0.49767	2.139000	0.66308	0.448000	0.29417	CGC		0.577	HOXC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358963.1			5	32	0	0	0	1	0	5	32					T	54448666	C	T	54448666	3	4	106	1	0	0	0	0	1	0	0	0	7313	768	27	1	478	1	HOXC4	12	54448666	Missense_Mutation	SNP	C	TCGA-EJ-8468-01A-21D-2395-08	5016468	54448666	79403229	16	5797											
FOXA1	3169	broad.mit.edu	37	chr14	38061623	38061623	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gggcccaggccattcatggaGgccgcctgctgcgcacccat	6	6	13	16	2	1	0	1	0	0	0	1	1	1	1	5	4	2	2	5	4	0	1			TCGA-EJ-8468-01A-21D-2395-08	TCGA-EJ-8468-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3dfed002-b5bd-4fb8-abad-1fcd74db1b68	dc7c3b1b-f5f0-414c-8b07-2338277264c3	g.chr14:38061623G>A	ENST00000250448.2	-	2	427	c.366C>T	c.(364-366)gcC>gcT	p.A122A	FOXA1_ENST00000545425.2_5'UTR|FOXA1_ENST00000540786.1_Silent_p.A89A	NM_004496.3	NP_004487.2	P55317	FOXA1_HUMAN	forkhead box A1	122					anatomical structure formation involved in morphogenesis (GO:0048646)|chromatin remodeling (GO:0006338)|dorsal/ventral neural tube patterning (GO:0021904)|epithelial cell maturation involved in prostate gland development (GO:0060743)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|epithelial-mesenchymal signaling involved in prostate gland development (GO:0060738)|glucose homeostasis (GO:0042593)|hormone metabolic process (GO:0042445)|lung epithelial cell differentiation (GO:0060487)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron fate specification (GO:0048665)|positive regulation of cell-cell adhesion mediated by cadherin (GO:2000049)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prostate gland epithelium morphogenesis (GO:0060740)|prostate gland stromal morphogenesis (GO:0060741)|response to estradiol (GO:0032355)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)	microvillus (GO:0005902)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|endometrium(1)|large_intestine(2)|lung(3)|prostate(12)	19	Breast(36;0.0954)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		Lung(238;5.41e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0454)|LUSC - Lung squamous cell carcinoma(13;0.0917)|all cancers(34;0.0925)|BRCA - Breast invasive adenocarcinoma(188;0.239)	GBM - Glioblastoma multiforme(112;0.0222)		CATTCATGGAGGCCGCCTGCT	0.746																																						ENST00000250448.2																			0				breast(1)|endometrium(1)|large_intestine(2)|lung(3)|prostate(12)	19						c.(364-366)gcC>gcT		forkhead box A1							10	12	11					14																	38061623		2111	4128	6239	SO:0001819	synonymous_variant	3169				chromatin remodeling|embryo development|epithelial cell maturation involved in prostate gland development|epithelial tube branching involved in lung morphogenesis|epithelial-mesenchymal signaling involved in prostate gland development|glucose homeostasis|lung epithelial cell differentiation|negative regulation of survival gene product expression|neuron fate specification|pattern specification process|positive regulation of estrogen receptor signaling pathway|positive regulation of mitotic cell cycle|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|prostate gland epithelium morphogenesis|prostate gland stromal morphogenesis|response to estradiol stimulus|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development	transcription factor complex	DNA bending activity|double-stranded DNA binding|protein domain specific binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding	g.chr14:38061623G>A	U39840	CCDS9665.1	14q12-q13	2008-04-10		2002-09-20	ENSG00000129514	ENSG00000129514		"Forkhead boxes"	5021	protein-coding gene	gene with protein product		602294	"hepatocyte nuclear factor 3, alpha"	HNF3A		9119385, 8652662	Standard	NM_004496		Approved		uc001wuf.4	P55317	OTTHUMG00000140253	ENST00000250448.2:c.366C>T	14.37:g.38061623G>A						FOXA1_ENST00000540786.1_Silent_p.A89A|FOXA1_ENST00000545425.2_5'UTR	p.A122A	NM_004496.3	NP_004487.2	P55317	FOXA1_HUMAN	Lung(238;5.41e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0454)|LUSC - Lung squamous cell carcinoma(13;0.0917)|all cancers(34;0.0925)|BRCA - Breast invasive adenocarcinoma(188;0.239)	GBM - Glioblastoma multiforme(112;0.0222)	2	427	-	Breast(36;0.0954)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		122					B2R9H6|B7ZAP5|Q9H2A0	Silent	SNP	ENST00000250448.2	37	c.366C>T	CCDS9665.1																																																																																				0.746	FOXA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276735.1			7	8	0	0	0	1	0	7	8					A	38061623	G	A	38061623	2	1	106	1	0	0	0	0	0	0	0	1	5989	987	35	3		3	FOXA1	14	38061623	Silent	SNP	G	TCGA-EJ-8468-01A-21D-2395-08		38061623	69287917	17	5798											
MAP1A	4130	broad.mit.edu	37	chr15	43821147	43821147	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gggaccactgggggcccatgCcctgtgactgatgagacacc	8	6	14	13	0	0	3	0	3	0	1	0	5	0	4	4	3	1	0	4	3	0	0			TCGA-EJ-8468-01A-21D-2395-08	TCGA-EJ-8468-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3dfed002-b5bd-4fb8-abad-1fcd74db1b68	dc7c3b1b-f5f0-414c-8b07-2338277264c3	g.chr15:43821147C>A	ENST00000300231.5	+	4	7926	c.7476C>A	c.(7474-7476)tgC>tgA	p.C2492*	MAP1A_ENST00000382031.1_Nonsense_Mutation_p.C2730*|MAP1A_ENST00000399453.1_Nonsense_Mutation_p.C2492*			P78559	MAP1A_HUMAN	microtubule-associated protein 1A	2492					microtubule cytoskeleton organization (GO:0000226)|sensory perception of sound (GO:0007605)	cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)	structural molecule activity (GO:0005198)			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	GGGGCCCATGCCCTGTGACTG	0.597																																						ENST00000382031.1																			0				breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66						c.(8188-8190)tgC>tgA		microtubule-associated protein 1A	Estramustine(DB01196)						49	52	51					15																	43821147		1936	4123	6059	SO:0001587	stop_gained	4130					cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity	g.chr15:43821147C>A	U38292	CCDS42031.1	15q15.3	2006-06-15			ENSG00000166963	ENSG00000166963			6835	protein-coding gene	gene with protein product		600178		MAP1L		7806212, 7629894	Standard	XM_005254385		Approved		uc001zrt.3	P78559	OTTHUMG00000059756	ENST00000300231.5:c.7476C>A	15.37:g.43821147C>A	ENSP00000300231:p.Cys2492*					MAP1A_ENST00000399453.1_Nonsense_Mutation_p.C2492*|MAP1A_ENST00000300231.5_Nonsense_Mutation_p.C2492*	p.C2730*			P78559	MAP1A_HUMAN		GBM - Glioblastoma multiforme(94;3.05e-06)	5	8221	+		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)	2492					O95643|Q12973|Q15882|Q9UJT4	Nonsense_Mutation	SNP	ENST00000300231.5	37	c.8190C>A	CCDS42031.1	.	.	.	.	.	.	.	.	.	.	C	48	14.154720	0.99782	.	.	ENSG00000166963	ENST00000382031;ENST00000399453;ENST00000300231	.	.	.	4.9	2.96	0.34315	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-0.7163	8.6018	0.33749	0.0:0.8042:0.0:0.1958	.	.	.	.	X	2730;2492;2492	.	ENSP00000300231:C2492X	C	+	3	2	MAP1A	41608439	0.975000	0.34042	0.994000	0.49952	0.488000	0.33401	0.765000	0.26546	0.619000	0.30197	-0.379000	0.06801	TGC		0.597	MAP1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000132894.5	NM_002373		24	65	1	0	1.10923e-09	1	1.28911e-09	24	65					A	43821147	C	A	43821147	4	1	106	1	0	0	0	0	0	1	0	0	9227	747	26	5	7478	5	MAP1A	15	43821147	Nonsense_Mutation	SNP	C	TCGA-EJ-8468-01A-21D-2395-08		43821147	58710245	18	5799											
RBPMS2	348093	broad.mit.edu	37	chr15	65041629	65041629	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acctgttctccacctactcaCgttcagcgcattcttggccg	6	12	7	16	3	4	0	2	0	2	0	5	0	4	0	4	1	2	3	4	1	1	5			TCGA-EJ-8468-01A-21D-2395-08	TCGA-EJ-8468-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3dfed002-b5bd-4fb8-abad-1fcd74db1b68	dc7c3b1b-f5f0-414c-8b07-2338277264c3	g.chr15:65041629C>T	ENST00000300069.4	-	4	535		c.e4+1		RBPMS2_ENST00000560606.1_Splice_Site	NM_194272.1	NP_919248.1	Q6ZRY4	RBPS2_HUMAN	RNA binding protein with multiple splicing 2								nucleic acid binding (GO:0003676)|nucleotide binding (GO:0000166)			breast(1)|large_intestine(3)|lung(3)|prostate(1)	8						CACCTACTCACGTTCAGCGCA	0.517																																						ENST00000300069.4																			0				breast(1)|large_intestine(3)|lung(3)|prostate(1)	8						c.e4+1		RNA binding protein with multiple splicing 2							176	155	162					15																	65041629		2202	4299	6501	SO:0001630	splice_region_variant	348093						nucleic acid binding|nucleotide binding	g.chr15:65041629C>T	AY369207	CCDS32271.1	15q22.31	2014-05-15			ENSG00000166831	ENSG00000166831		"RNA binding motif (RRM) containing"	19098	protein-coding gene	gene with protein product							Standard	NM_194272		Approved		uc002anq.3	Q6ZRY4	OTTHUMG00000172423	ENST00000300069.4:c.267+1G>A	15.37:g.65041629C>T						RBPMS2_ENST00000560606.1_Splice_Site		NM_194272.1	NP_919248.1	Q6ZRY4	RBPS2_HUMAN			4	535	-								A2RRG0	Splice_Site	SNP	ENST00000300069.4	37		CCDS32271.1	.	.	.	.	.	.	.	.	.	.	C	14.98	2.697999	0.48307	.	.	ENSG00000166831	ENST00000300069	.	.	.	5.26	5.26	0.73747	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.8061	0.88601	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	RBPMS2	62828682	1.000000	0.71417	0.991000	0.47740	0.220000	0.24768	7.435000	0.80391	2.627000	0.88993	0.563000	0.77884	.		0.517	RBPMS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418466.1		Intron	18	68	0	0	0	1	0	18	68					T	65041629	C	T	65041629	5	4	106	1	0	0	0	0	0	0	1	0	13164	550	19	1	377	1	RBPMS2	15	65041629	Splice_Site	SNP	C	TCGA-EJ-8468-01A-21D-2395-08	21220482	65041629	37489763	19	5800											
THSD4	79875	broad.mit.edu	37	chr15	71535425	71535425	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctatcggcagtacaagctgtGcaacaccaacgtgagtacac	13	7	9	12	2	0	1	0	1	0	0	1	1	0	1	1	1	6	5	1	1	6	3			TCGA-EJ-8468-01A-21D-2395-08	TCGA-EJ-8468-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3dfed002-b5bd-4fb8-abad-1fcd74db1b68	dc7c3b1b-f5f0-414c-8b07-2338277264c3	g.chr15:71535425G>T	ENST00000355327.3	+	5	1036	c.902G>T	c.(901-903)tGc>tTc	p.C301F	THSD4_ENST00000261862.6_Missense_Mutation_p.C301F			Q6ZMP0	THSD4_HUMAN	thrombospondin, type I, domain containing 4	301	TSP type-1 1. {ECO:0000255|PROSITE- ProRule:PRU00210}.				elastic fiber assembly (GO:0048251)	extracellular vesicular exosome (GO:0070062)|microfibril (GO:0001527)	metalloendopeptidase activity (GO:0004222)			breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						TACAAGCTGTGCAACACCAAC	0.542																																						ENST00000355327.3																			0				breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						c.(901-903)tGc>tTc		thrombospondin, type I, domain containing 4							49	51	50					15																	71535425		2009	4192	6201	SO:0001583	missense	79875					proteinaceous extracellular matrix	metalloendopeptidase activity	g.chr15:71535425G>T	AK023772	CCDS10238.2, CCDS66817.1	15q23	2009-11-09			ENSG00000187720	ENSG00000187720			25835	protein-coding gene	gene with protein product		614476				19734141	Standard	NM_001286429		Approved	FVSY9334, PRO34005, FLJ13710, ADAMTSL6	uc002atb.1	Q6ZMP0	OTTHUMG00000133389	ENST00000355327.3:c.902G>T	15.37:g.71535425G>T	ENSP00000347484:p.Cys301Phe					THSD4_ENST00000261862.6_Missense_Mutation_p.C301F	p.C301F			Q6ZMP0	THSD4_HUMAN			5	1036	+			301			TSP type-1 1.		B2RTY3|B4DR13|Q6MZI3|Q6UXZ8|Q9H8E4	Missense_Mutation	SNP	ENST00000355327.3	37	c.902G>T	CCDS10238.2	.	.	.	.	.	.	.	.	.	.	G	20.5	4.008982	0.75046	.	.	ENSG00000187720	ENST00000355327;ENST00000261862	T;T	0.65916	-0.18;-0.18	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	T	0.72906	0.3519	L	0.40543	1.245	0.51233	D	0.99991	D	0.71674	0.998	D	0.78314	0.991	T	0.74830	-0.3531	10	0.87932	D	0	.	17.1495	0.86774	0.0:0.0:1.0:0.0	.	301	Q6ZMP0	THSD4_HUMAN	F	301	ENSP00000347484:C301F;ENSP00000261862:C301F	ENSP00000261862:C301F	C	+	2	0	THSD4	69322479	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.594000	0.74104	2.721000	0.93114	0.655000	0.94253	TGC		0.542	THSD4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257253.2	NM_024817		10	39	1	0	2.17888e-05	1	2.34229e-05	10	39					T	71535425	G	T	71535425	3	4	106	1	0	0	0	0	1	0	0	0	15875	1319	46	5	916	5	THSD4	15	71535425	Missense_Mutation	SNP	G	TCGA-EJ-8468-01A-21D-2395-08	6493796	71535425	30995967	20	5801											
ACSBG1	23205	broad.mit.edu	37	chr15	78471897	78471897	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agcctcgagcctcacctgtaCagccggtagttgtagggact	8	9	12	12	2	1	0	1	0	0	0	2	2	1	1	4	2	4	4	4	2	3	4			TCGA-EJ-8468-01A-21D-2395-08	TCGA-EJ-8468-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3dfed002-b5bd-4fb8-abad-1fcd74db1b68	dc7c3b1b-f5f0-414c-8b07-2338277264c3	g.chr15:78471897C>G	ENST00000258873.4	-	10	1684	c.1479G>C	c.(1477-1479)ctG>ctC	p.L493L	ACSBG1_ENST00000541759.1_Silent_p.L251L|ACSBG1_ENST00000560817.1_Silent_p.L251L	NM_001199377.1|NM_015162.4	NP_001186306.1|NP_055977.3	Q96GR2	ACBG1_HUMAN	acyl-CoA synthetase bubblegum family member 1	493					long-chain fatty acid metabolic process (GO:0001676)|myelination (GO:0042552)|ovarian follicle atresia (GO:0001552)|response to glucocorticoid (GO:0051384)|very long-chain fatty acid metabolic process (GO:0000038)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)	ATP binding (GO:0005524)|long-chain fatty acid-CoA ligase activity (GO:0004467)|very long-chain fatty acid-CoA ligase activity (GO:0031957)			endometrium(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	37						CTCACCTGTACAGCCGGTAGT	0.597																																						ENST00000258873.4																			0				endometrium(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	37						c.(1477-1479)ctG>ctC		acyl-CoA synthetase bubblegum family member 1							52	50	51					15																	78471897		2196	4293	6489	SO:0001819	synonymous_variant	23205				long-chain fatty acid metabolic process|myelination|very long-chain fatty acid metabolic process	cytoplasmic membrane-bounded vesicle|endoplasmic reticulum|microsome	ATP binding|long-chain fatty acid-CoA ligase activity|very long-chain fatty acid-CoA ligase activity	g.chr15:78471897C>G	AB014531	CCDS10298.1	15q23-q24	2006-02-09			ENSG00000103740	ENSG00000103740		"Acyl-CoA synthetase family"	29567	protein-coding gene	gene with protein product	"bubblegum", "very long-chain acyl-CoA synthetase", "lipidosin"	614362				9734811, 10954726	Standard	NM_015162		Approved	BGM, FLJ30320, MGC14352, BG1, KIAA0631, hBG1, hsBG	uc002bdh.3	Q96GR2	OTTHUMG00000143734	ENST00000258873.4:c.1479G>C	15.37:g.78471897C>G						ACSBG1_ENST00000541759.1_Silent_p.L251L|ACSBG1_ENST00000560817.1_Silent_p.L251L	p.L493L	NM_001199377.1|NM_015162.4	NP_001186306.1|NP_055977.3	Q96GR2	ACBG1_HUMAN			10	1684	-			493					B2RB61|O75126|Q76N27|Q9HC26	Silent	SNP	ENST00000258873.4	37	c.1479G>C	CCDS10298.1																																																																																				0.597	ACSBG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000289802.2	NM_015162		9	24	0	0	0	1	0	9	24					G	78471897	C	G	78471897	2	3	106	1	0	0	0	0	0	0	0	1	173	465	17	5		5	ACSBG1	15	78471897	Silent	SNP	C	TCGA-EJ-8468-01A-21D-2395-08	6936472	78471897	24059495	21	5802											
ZFPM1	161882	broad.mit.edu	37	chr16	88598619	88598619	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gccccagcgccagctccctgGagatccacatgcgcagccac	8	4	10	19	2	0	1	0	0	0	1	2	2	2	1	6	1	4	2	6	1	0	0			TCGA-EJ-8468-01A-21D-2395-08	TCGA-EJ-8468-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3dfed002-b5bd-4fb8-abad-1fcd74db1b68	dc7c3b1b-f5f0-414c-8b07-2338277264c3	g.chr16:88598619G>A	ENST00000319555.3	+	7	1244	c.922G>A	c.(922-924)Gag>Aag	p.E308K	RP11-21B21.4_ENST00000563243.1_RNA	NM_153813.2	NP_722520.2	Q8IX07	FOG1_HUMAN	zinc finger protein, FOG family member 1	308					atrial septum morphogenesis (GO:0060413)|atrioventricular valve morphogenesis (GO:0003181)|blood coagulation (GO:0007596)|cardiac muscle tissue morphogenesis (GO:0055008)|definitive erythrocyte differentiation (GO:0060318)|embryonic hemopoiesis (GO:0035162)|erythrocyte differentiation (GO:0030218)|granulocyte differentiation (GO:0030851)|megakaryocyte development (GO:0035855)|megakaryocyte differentiation (GO:0030219)|mitral valve formation (GO:0003192)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of interleukin-4 biosynthetic process (GO:0045403)|negative regulation of mast cell differentiation (GO:0060377)|negative regulation of protein binding (GO:0032091)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|outflow tract morphogenesis (GO:0003151)|platelet formation (GO:0030220)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|primitive erythrocyte differentiation (GO:0060319)|regulation of chemokine production (GO:0032642)|regulation of definitive erythrocyte differentiation (GO:0010724)|T-helper cell lineage commitment (GO:0002295)|transcriptional activation by promoter-enhancer looping (GO:0071733)|tricuspid valve formation (GO:0003195)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II transcription factor binding (GO:0001085)|transcription factor binding (GO:0008134)			central_nervous_system(1)|ovary(2)|urinary_tract(1)	4				BRCA - Breast invasive adenocarcinoma(80;0.0478)		CAGCTCCCTGGAGATCCACAT	0.706																																					Pancreas(49;850 1106 29641 32847 38344)	ENST00000319555.3																			0				central_nervous_system(1)|ovary(2)|urinary_tract(1)	4						c.(922-924)Gag>Aag		zinc finger protein, FOG family member 1							25	24	24					16																	88598619		2194	4295	6489	SO:0001583	missense	161882				blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	DNA binding|transcription factor binding|zinc ion binding	g.chr16:88598619G>A	AF488691	CCDS32502.1	16q24.2	2013-01-10	2012-11-27		ENSG00000179588	ENSG00000179588		"Zinc fingers, C2H2-type", "Zinc fingers, C2HC-type containing"	19762	protein-coding gene	gene with protein product		601950	"zinc finger protein, multitype 1"				Standard	NM_153813		Approved	FOG1, FOG, ZNF89A, ZC2HC11A	uc002fkv.3	Q8IX07	OTTHUMG00000173152	ENST00000319555.3:c.922G>A	16.37:g.88598619G>A	ENSP00000326630:p.Glu308Lys						p.E308K	NM_153813.2	NP_722520.2	Q8IX07	FOG1_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0478)	7	1244	+			308						Missense_Mutation	SNP	ENST00000319555.3	37	c.922G>A	CCDS32502.1	.	.	.	.	.	.	.	.	.	.	g	21.5	4.160360	0.78226	.	.	ENSG00000179588	ENST00000319555	T	0.17054	2.3	4.65	4.65	0.58169	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.288156	0.32357	U	0.006212	T	0.14098	0.0341	N	0.00514	-1.41	0.53005	D	0.999966	D	0.71674	0.998	D	0.77557	0.99	T	0.61133	-0.7124	10	0.42905	T	0.14	-7.1132	16.5461	0.84446	0.0:0.0:1.0:0.0	.	308	Q8IX07	FOG1_HUMAN	K	308	ENSP00000326630:E308K	ENSP00000326630:E308K	E	+	1	0	ZFPM1	87126120	1.000000	0.71417	1.000000	0.80357	0.864000	0.49448	6.267000	0.72546	2.152000	0.67230	0.299000	0.19835	GAG		0.706	ZFPM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422270.2			12	31	0	0	0	1	0	12	31					A	88598619	G	A	88598619	3	1	106	1	0	0	0	0	1	0	0	0	17654	1175	41	3	948	3	ZFPM1	16	88598619	Missense_Mutation	SNP	G	TCGA-EJ-8468-01A-21D-2395-08		88598619	1756134	22	5803											
KRTAP4-7	100132476	broad.mit.edu	37	chr17	39240504	39240504	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtgctctgaccagggctgcAgccaagacctctgtcaggag	8	8	13	12	0	3	2	1	1	2	1	3	3	3	3	3	2	3	3	3	2	1	0	rs11655310	byFrequency	TCGA-EJ-8468-01A-21D-2395-08	TCGA-EJ-8468-11A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3dfed002-b5bd-4fb8-abad-1fcd74db1b68	3b3142ad-8a22-42b2-9ca4-06e81a9deaa7	g.chr17:39240504A>G	ENST00000391417.4	+	1	46	c.46A>G	c.(46-48)Agc>Ggc	p.S16G		NM_033061.3	NP_149050.3	Q9BYR0	KRA47_HUMAN	keratin associated protein 4-7	16	31 X 5 AA repeats of C-C-[GIKRQVHEML]- [SPTRV]-[STVQRCP].		S -> G. {ECO:0000269|PubMed:11279113, ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:15955084}.		aging (GO:0007568)|hair cycle (GO:0042633)	keratin filament (GO:0045095)		p.S16G(2)		NS(1)|endometrium(3)|kidney(1)|lung(1)|prostate(2)|urinary_tract(1)	9						CCAGGGCTGCAGCCAAGACCT	0.607													g|||	3114	0.621805	0.8873	0.6297	5008	,	,		13919	0.3938		0.6153	False		,,,				2504	0.499					ENST00000391417.4																			2	Substitution - Missense(2)	p.S16G(2)	endometrium(2)	NS(1)|endometrium(3)|kidney(1)|lung(1)|prostate(2)|urinary_tract(1)	9						c.(46-48)Agc>Ggc		keratin associated protein 4-7							7	16	13					17																	39240504		647	1547	2194	SO:0001583	missense	100132476							g.chr17:39240504A>G	AJ406939	CCDS45673.1	17q21.2	2013-06-25			ENSG00000240871	ENSG00000240871		"Keratin associated proteins"	18898	protein-coding gene	gene with protein product						11279113	Standard	NM_033061		Approved	KAP4.7	uc010wfn.2	Q9BYR0	OTTHUMG00000133582	ENST00000391417.4:c.46A>G	17.37:g.39240504A>G	ENSP00000375236:p.Ser16Gly						p.S16G	NM_033061.3	NP_149050.3					1	46	+								A0AVM6|A8MQ08|A8MTL4	Missense_Mutation	SNP	ENST00000391417.4	37	c.46A>G	CCDS45673.1	1184	0.5421245421245421	392	0.7967479674796748	210	0.580110497237569	193	0.3374125874125874	389	0.5131926121372031	.	0.007	-1.989467	0.00439	.	.	ENSG00000240871;ENSG00000212722	ENST00000391417;ENST00000377734	T	0.00591	6.35	3.09	2.03	0.26663	.	.	.	.	.	T	0.00012	0.0000	.	.	.	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.20773	-1.0265	7	0.02654	T	1	.	3.8452	0.08931	0.1259:0.0:0.4559:0.4182	rs11655310	16	Q9BYR0	KRA47_HUMAN	G	16	ENSP00000375236:S16G	ENSP00000375236:S16G	S	+	1	0	KRTAP4-9;KRTAP4-7	36494030	0.673000	0.27539	0.190000	0.23270	0.015000	0.08874	0.317000	0.19487	0.103000	0.17682	-0.355000	0.07637	AGC		0.607	KRTAP4-7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257686.1			3	35	0	0	0	1	0	3	35					G	39240504	A	G	39240504	3	3	106	1	0	0	0	0	1	0	0	0	8555	188	7	4	48	4	KRTAP4-7	17	39240504	Missense_Mutation	SNP	A	TCGA-EJ-8468-01A-21D-2395-08		39240504	41954706	23	5804											
SPOP	8405	broad.mit.edu	37	chr17	47696425	47696425	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctacggatgaatttcttgAatccccagtctttgccttgc	7	15	7	12	1	3	2	0	2	3	0	4	3	4	3	3	1	3	0	3	1	3	5			TCGA-EJ-8468-01A-21D-2395-08	TCGA-EJ-8468-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3dfed002-b5bd-4fb8-abad-1fcd74db1b68	dc7c3b1b-f5f0-414c-8b07-2338277264c3	g.chr17:47696425A>G	ENST00000393328.2	-	6	763	c.398T>C	c.(397-399)tTc>tCc	p.F133S	SPOP_ENST00000393331.3_Missense_Mutation_p.F133S|SPOP_ENST00000347630.2_Missense_Mutation_p.F133S|SPOP_ENST00000504102.1_Missense_Mutation_p.F133S|SPOP_ENST00000513080.1_5'Flank|SPOP_ENST00000503676.1_Missense_Mutation_p.F133S	NM_003563.3	NP_003554.1	O43791	SPOP_HUMAN	speckle-type POZ protein	133	Important for binding substrate proteins.|MATH. {ECO:0000255|PROSITE- ProRule:PRU00129}.|Required for nuclear localization.				glucose homeostasis (GO:0042593)|positive regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902237)|positive regulation of type B pancreatic cell apoptotic process (GO:2000676)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	Cul3-RING ubiquitin ligase complex (GO:0031463)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	ubiquitin protein ligase binding (GO:0031625)	p.F133C(3)|p.F133S(2)		endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						GAATTTCTTGAATCCCCAGTC	0.448										Prostate(2;0.17)																												ENST00000393331.3																			5	Substitution - Missense(5)	p.F133C(3)|p.F133S(2)	prostate(5)	endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						c.(397-399)tTc>tCc		speckle-type POZ protein							119	120	120					17																	47696425		2203	4300	6503	SO:0001583	missense	8405				mRNA processing	nucleus	protein binding	g.chr17:47696425A>G	AJ000644	CCDS11551.1	17q21.33	2013-01-09			ENSG00000121067	ENSG00000121067		"BTB/POZ domain containing"	11254	protein-coding gene	gene with protein product		602650				9414087	Standard	NM_001007227		Approved	TEF2, BTBD32	uc002ipg.3	O43791	OTTHUMG00000161496	ENST00000393328.2:c.398T>C	17.37:g.47696425A>G	ENSP00000377001:p.Phe133Ser	Prostate(2;0.17)				SPOP_ENST00000393328.2_Missense_Mutation_p.F133S|SPOP_ENST00000347630.2_Missense_Mutation_p.F133S|SPOP_ENST00000503676.1_Missense_Mutation_p.F133S|SPOP_ENST00000504102.1_Missense_Mutation_p.F133S	p.F133S	NM_001007226.1|NM_001007227.1	NP_001007227.1|NP_001007228.1	O43791	SPOP_HUMAN			7	868	-			133			MATH.|Required for nuclear localization.		B2R6S3|D3DTW7|Q53HJ1	Missense_Mutation	SNP	ENST00000393328.2	37	c.398T>C	CCDS11551.1	.	.	.	.	.	.	.	.	.	.	A	24.4	4.527622	0.85706	.	.	ENSG00000121067	ENST00000393328;ENST00000393331;ENST00000347630;ENST00000504102;ENST00000503536;ENST00000503676;ENST00000513872;ENST00000509079;ENST00000505581;ENST00000507970;ENST00000514121	T;T;T;T;T;T;T;T;T	0.42900	0.96;0.96;0.96;0.96;0.96;0.96;0.96;0.96;0.96	5.41	5.41	0.78517	TRAF-type (1);TRAF-like (1);MATH (3);	0.000000	0.85682	D	0.000000	T	0.65302	0.2678	M	0.77820	2.39	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.66622	-0.5877	10	0.44086	T	0.13	-9.6576	15.258	0.73599	1.0:0.0:0.0:0.0	.	133	O43791	SPOP_HUMAN	S	133;133;133;133;17;133;86;133;133;133;133	ENSP00000377001:F133S;ENSP00000377004:F133S;ENSP00000240327:F133S;ENSP00000425905:F133S;ENSP00000420908:F133S;ENSP00000426986:F133S;ENSP00000420960:F133S;ENSP00000426262:F133S;ENSP00000424119:F133S	ENSP00000240327:F133S	F	-	2	0	SPOP	45051424	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.131000	0.94446	2.261000	0.74972	0.460000	0.39030	TTC		0.448	SPOP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365154.2	NM_003563		43	95	0	0	0	1	0	43	95					G	47696425	A	G	47696425	3	3	106	1	0	0	0	0	1	0	0	0	15083	246	9	4	750	4	SPOP	17	47696425	Missense_Mutation	SNP	A	TCGA-EJ-8468-01A-21D-2395-08	8455921	47696425	33498785	24	5805											
APPBP2	10513	broad.mit.edu	37	chr17	58529353	58529353	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctacttcataatcttcttgAccaagaagttgttctttaat	11	17	5	8	0	4	2	1	1	3	1	4	2	4	2	1	0	1	3	1	0	5	9			TCGA-EJ-8468-01A-21D-2395-08	TCGA-EJ-8468-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3dfed002-b5bd-4fb8-abad-1fcd74db1b68	dc7c3b1b-f5f0-414c-8b07-2338277264c3	g.chr17:58529353A>G	ENST00000083182.3	-	12	1679	c.1392T>C	c.(1390-1392)ggT>ggC	p.G464G		NM_001282476.1|NM_006380.2	NP_001269405.1|NP_006371.2	Q92624	APBP2_HUMAN	amyloid beta precursor protein (cytoplasmic tail) binding protein 2	464					intracellular protein transport (GO:0006886)|intracellular transport (GO:0046907)|metabolic process (GO:0008152)	cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|nucleus (GO:0005634)	microtubule motor activity (GO:0003777)			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(17)|pancreas(1)|urinary_tract(1)	25	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;3.67e-13)|all cancers(12;1.44e-11)|Colorectal(3;0.01)			AATCTTCTTGACCAAGAAGTT	0.323																																						ENST00000083182.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(17)|pancreas(1)|urinary_tract(1)	25						c.(1390-1392)ggT>ggC		amyloid beta precursor protein (cytoplasmic tail) binding protein 2							97	96	96					17																	58529353		2202	4298	6500	SO:0001819	synonymous_variant	10513				intracellular protein transport	cytoplasmic vesicle membrane|microtubule|microtubule associated complex|nucleus	microtubule motor activity|protein binding	g.chr17:58529353A>G	AF017782	CCDS32699.1	17q23.2	2012-09-20	2001-11-28		ENSG00000062725	ENSG00000062725			622	protein-coding gene	gene with protein product	"protein interacting with APP tail 1"	605324	"amyloid beta precursor protein (cytoplasmic tail)-binding protein 2"			9843960	Standard	NM_006380		Approved	KIAA0228, Hs.84084, PAT1	uc002iys.1	Q92624		ENST00000083182.3:c.1392T>C	17.37:g.58529353A>G							p.G464G	NM_006380.2	NP_006371.2	Q92624	APBP2_HUMAN	Epithelial(12;3.67e-13)|all cancers(12;1.44e-11)|Colorectal(3;0.01)		12	1679	-	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		464					A8K862|O95095|Q8WVC9	Silent	SNP	ENST00000083182.3	37	c.1392T>C	CCDS32699.1																																																																																				0.323	APPBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449465.1	NM_006380		4	61	0	0	0	1	0	4	61					G	58529353	A	G	58529353	2	3	106	1	0	0	0	0	0	0	0	1	816	262	10	4		4	APPBP2	17	58529353	Silent	SNP	A	TCGA-EJ-8468-01A-21D-2395-08	10832928	58529353	22665857	25	5806											
TANC2	26115	broad.mit.edu	37	chr17	61432335	61432335	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ctcagttctcatctcaagacCctcagtcaagggtcctatct	9	12	6	14	0	6	1	5	0	3	1	9	1	7	1	2	1	0	1	2	1	3	2			TCGA-EJ-8468-01A-21D-2395-08	TCGA-EJ-8468-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3dfed002-b5bd-4fb8-abad-1fcd74db1b68	dc7c3b1b-f5f0-414c-8b07-2338277264c3	g.chr17:61432335C>A	ENST00000424789.2	+	12	1948	c.1944C>A	c.(1942-1944)acC>acA	p.T648T	TANC2_ENST00000389520.4_Silent_p.T648T	NM_025185.3	NP_079461.2	Q9HCD6	TANC2_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2	648					in utero embryonic development (GO:0001701)					breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|upper_aerodigestive_tract(3)	44						ATCTCAAGACCCTCAGTCAAG	0.398																																						ENST00000424789.2																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|upper_aerodigestive_tract(3)	44						c.(1942-1944)acC>acA		tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2							164	155	158					17																	61432335		1894	4111	6005	SO:0001819	synonymous_variant	26115						binding	g.chr17:61432335C>A	AB032974	CCDS45754.1	17q23.3	2013-01-11				ENSG00000170921		"Ankyrin repeat domain containing", "Tetratricopeptide (TTC) repeat domain containing"	30212	protein-coding gene	gene with protein product	"rolling pebbles homolog B (Drosophila)"	615047					Standard	NM_025185		Approved	DKFZP564D166, FLJ10215, FLJ11824, KIAA1148, KIAA1636, rols, ROLSA	uc002jal.4	Q9HCD6		ENST00000424789.2:c.1944C>A	17.37:g.61432335C>A						TANC2_ENST00000389520.4_Silent_p.T648T	p.T648T	NM_025185.3	NP_079461.2	Q9HCD6	TANC2_HUMAN			12	1948	+			648					Q9HAC3|Q9NW88|Q9NXY9|Q9ULS2	Silent	SNP	ENST00000424789.2	37	c.1944C>A	CCDS45754.1																																																																																				0.398	TANC2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444765.1			33	110	1	0	5.09552e-08	1	5.76598e-08	33	110					A	61432335	C	A	61432335	2	1	106	1	0	0	0	0	0	0	0	1	15542	610	22	5		5	TANC2	17	61432335	Silent	SNP	C	TCGA-EJ-8468-01A-21D-2395-08	2902982	61432335	19762875	26	5807											
ZNF559	84527	broad.mit.edu	37	chr19	9453237	9453237	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aactcttcacatcttactgtAcatatgagaactcacactgg	13	12	5	11	0	4	1	2	1	2	1	4	2	4	1	0	1	4	1	0	1	5	4			TCGA-EJ-8468-01A-21D-2395-08	TCGA-EJ-8468-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3dfed002-b5bd-4fb8-abad-1fcd74db1b68	dc7c3b1b-f5f0-414c-8b07-2338277264c3	g.chr19:9453237A>G	ENST00000393883.2	+	6	1758	c.1110A>G	c.(1108-1110)gtA>gtG	p.V370V	ZNF559_ENST00000586255.1_Intron|ZNF177_ENST00000605471.1_Intron|ZNF559_ENST00000317221.7_3'UTR|ZNF559_ENST00000538743.1_Silent_p.V290V|ZNF559_ENST00000603380.1_Silent_p.V370V|ZNF177_ENST00000541595.2_Intron|CTC-325H20.2_ENST00000592371.1_lincRNA|ZNF177_ENST00000602738.1_Intron|ZNF177_ENST00000446085.4_Intron|ZNF559_ENST00000587557.1_Silent_p.V434V|ZNF177_ENST00000602856.1_Intron	NM_001202412.1	NP_001189341.1	Q9BR84	ZN559_HUMAN	zinc finger protein 559	370					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(2)|large_intestine(7)|lung(15)|ovary(1)|urinary_tract(1)	26						ATCTTACTGTACATATGAGAA	0.388																																						ENST00000393883.2																			0				endometrium(2)|large_intestine(7)|lung(15)|ovary(1)|urinary_tract(1)	26						c.(1108-1110)gtA>gtG		zinc finger protein 559							65	59	61					19																	9453237		2203	4300	6503	SO:0001819	synonymous_variant	84527				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:9453237A>G	AL389937	CCDS12211.1, CCDS59349.1, CCDS62531.1, CCDS62532.1	19p13.2	2013-09-20			ENSG00000188321	ENSG00000188321		"Zinc fingers, C2H2-type", "-"	28197	protein-coding gene	gene with protein product						12477932	Standard	NM_001202406		Approved	MGC13105	uc002mle.4	Q9BR84	OTTHUMG00000179942	ENST00000393883.2:c.1110A>G	19.37:g.9453237A>G						ZNF177_ENST00000541595.2_Intron|ZNF559_ENST00000538743.1_Silent_p.V290V|ZNF177_ENST00000446085.4_Intron|ZNF177_ENST00000602738.1_Intron|ZNF559_ENST00000317221.7_3'UTR|ZNF559_ENST00000603380.1_Silent_p.V370V|ZNF177_ENST00000602856.1_Intron|ZNF559_ENST00000587557.1_Silent_p.V434V|ZNF559_ENST00000586255.1_Intron|ZNF177_ENST00000605471.1_Intron	p.V370V	NM_001202412.1	NP_001189341.1	Q9BR84	ZN559_HUMAN			6	1758	+			370					K7EMG6	Silent	SNP	ENST00000393883.2	37	c.1110A>G	CCDS12211.1																																																																																				0.388	ZNF559-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000449021.1	NM_032497		4	44	0	0	0	1	0	4	44					G	9453237	A	G	9453237	2	3	106	1	0	0	0	0	0	0	0	1	17987	378	14	4		4	ZNF559	19	9453237	Silent	SNP	A	TCGA-EJ-8468-01A-21D-2395-08		9453237	49675746	27	5808											
ZNF799	90576	broad.mit.edu	37	chr19	12501393	12501393	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttttttccagtgagtcttttTatgtctatgcaaggaactga	9	18	8	6	0	2	2	0	2	2	0	3	3	3	3	1	1	2	1	1	1	4	7			TCGA-EJ-8468-01A-21D-2395-08	TCGA-EJ-8468-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3dfed002-b5bd-4fb8-abad-1fcd74db1b68	dc7c3b1b-f5f0-414c-8b07-2338277264c3	g.chr19:12501393T>C	ENST00000430385.3	-	4	2019	c.1819A>G	c.(1819-1821)Aaa>Gaa	p.K607E	CTD-3105H18.14_ENST00000435033.1_Intron|ZNF799_ENST00000419318.1_Missense_Mutation_p.K575E	NM_001080821.2	NP_001074290.1	Q96GE5	ZN799_HUMAN	zinc finger protein 799	607					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(2)	19						TGAGTCTTTTTATGTCTATGC	0.398																																						ENST00000419318.1																			0				breast(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(2)	19						c.(1723-1725)Aaa>Gaa		zinc finger protein 799							86	92	90					19																	12501393		2203	4298	6501	SO:0001583	missense	90576				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12501393T>C	BC009517	CCDS45989.1	19p13.2	2013-01-08			ENSG00000196466	ENSG00000196466		"Zinc fingers, C2H2-type", "-"	28071	protein-coding gene	gene with protein product			"zinc finger protein 842"	ZNF842			Standard	NM_001080821		Approved	HIT-40, MGC71805	uc002mts.4	Q96GE5	OTTHUMG00000156408	ENST00000430385.3:c.1819A>G	19.37:g.12501393T>C	ENSP00000411084:p.Lys607Glu					ZNF799_ENST00000430385.3_Missense_Mutation_p.K607E|CTD-3105H18.14_ENST00000435033.1_Intron	p.K575E			Q96GE5	ZN799_HUMAN			4	2472	-			607						Missense_Mutation	SNP	ENST00000430385.3	37	c.1723A>G	CCDS45989.1	.	.	.	.	.	.	.	.	.	.	T	0.547	-0.850887	0.02651	.	.	ENSG00000196466	ENST00000419318;ENST00000430385	T;T	0.07567	3.18;3.18	1.27	-1.7	0.08159	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.07369	0.0186	N	0.13098	0.295	0.09310	N	1	D	0.55605	0.972	P	0.55824	0.785	T	0.27262	-1.0079	9	0.27785	T	0.31	.	3.5817	0.07955	0.0:0.2847:0.204:0.5113	.	607	Q96GE5	ZN799_HUMAN	E	575;607	ENSP00000415278:K575E;ENSP00000411084:K607E	ENSP00000415278:K575E	K	-	1	0	ZNF799	12362393	0.000000	0.05858	0.001000	0.08648	0.009000	0.06853	-1.598000	0.02087	-0.499000	0.06623	0.347000	0.21830	AAA		0.398	ZNF799-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344099.2	NM_001080821		31	91	0	0	0	1	0	31	91					C	12501393	T	C	12501393	3	2	106	1	0	0	0	0	1	0	0	0	18163	1763	61	4	116	4	ZNF799	19	12501393	Missense_Mutation	SNP	T	TCGA-EJ-8468-01A-21D-2395-08	3048156	12501393	46627590	28	5809											
EMR2	30817	broad.mit.edu	37	chr19	14877173	14877173	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgtggcatgggttttgtcCggaggtgcattcattcacat	6	14	13	8	1	2	0	2	0	0	0	3	1	3	1	1	4	1	4	1	4	0	4	rs563655526		TCGA-EJ-8468-01A-21D-2395-08	TCGA-EJ-8468-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3dfed002-b5bd-4fb8-abad-1fcd74db1b68	dc7c3b1b-f5f0-414c-8b07-2338277264c3	g.chr19:14877173C>T	ENST00000315576.3	-	7	959	c.508G>A	c.(508-510)Gga>Aga	p.G170R	EMR2_ENST00000353005.1_Intron|EMR2_ENST00000599423.1_5'Flank|EMR2_ENST00000353876.1_Intron|EMR2_ENST00000594076.1_Intron|EMR2_ENST00000346057.1_Intron|EMR2_ENST00000596991.2_Missense_Mutation_p.G170R|EMR2_ENST00000595839.1_Intron|EMR2_ENST00000392965.3_Missense_Mutation_p.G170R|EMR2_ENST00000594294.1_Intron|EMR2_ENST00000601345.1_Missense_Mutation_p.G170R|EMR2_ENST00000392964.3_Intron|EMR2_ENST00000392967.2_Missense_Mutation_p.G170R	NM_013447.3	NP_038475.2	Q9UHX3	EMR2_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 2	170	EGF-like 4; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				cell adhesion (GO:0007155)|cell migration (GO:0016477)|G-protein coupled receptor signaling pathway (GO:0007186)|granulocyte chemotaxis (GO:0071621)|inflammatory response (GO:0006954)|neuropeptide signaling pathway (GO:0007218)	cell projection (GO:0042995)|integral component of membrane (GO:0016021)|leading edge membrane (GO:0031256)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|chondroitin sulfate binding (GO:0035374)|G-protein coupled receptor activity (GO:0004930)			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	48						GGGTTTTGTCCGGAGGTGCAT	0.622													C|||	1	0.000199681	8e-04	0	5008	,	,		18864	0		0	False		,,,				2504	0					ENST00000315576.3																			0				breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	48						c.(508-510)Gga>Aga		egf-like module containing, mucin-like, hormone receptor-like 2							104	92	96					19																	14877173		2203	4300	6503	SO:0001583	missense	30817				cell adhesion|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr19:14877173C>T	AF114491	CCDS32935.1, CCDS59361.1	19p13.1	2014-08-08	2003-11-26			ENSG00000127507		"CD molecules", "-", "GPCR / Class B : Orphans"	3337	protein-coding gene	gene with protein product		606100	"egf-like module containing, mucin-like, hormone receptor-like sequence 2"				Standard	NM_013447		Approved	CD312	uc002mzp.2	Q9UHX3		ENST00000315576.3:c.508G>A	19.37:g.14877173C>T	ENSP00000319883:p.Gly170Arg					EMR2_ENST00000594076.1_Intron|EMR2_ENST00000594294.1_Intron|EMR2_ENST00000392964.3_Intron|EMR2_ENST00000596991.2_Missense_Mutation_p.G170R|EMR2_ENST00000601345.1_Missense_Mutation_p.G170R|EMR2_ENST00000392965.3_Missense_Mutation_p.G170R|EMR2_ENST00000392967.2_Missense_Mutation_p.G170R|EMR2_ENST00000595839.1_Intron|EMR2_ENST00000346057.1_Intron|EMR2_ENST00000353005.1_Intron|EMR2_ENST00000353876.1_Intron	p.G170R	NM_013447.2	NP_038475.2	Q9UHX3	EMR2_HUMAN			7	959	-			170			EGF-like 4; calcium-binding (Potential).		B4DQ96|E7ESD7|E9PBR1|E9PEL6|E9PFQ5|E9PG91|Q8NG96|Q9Y4B1	Missense_Mutation	SNP	ENST00000315576.3	37	c.508G>A	CCDS32935.1	.	.	.	.	.	.	.	.	.	.	C	13.48	2.250117	0.39797	.	.	ENSG00000127507	ENST00000315576;ENST00000392967;ENST00000360222;ENST00000392965	D;D;D	0.87412	-2.25;-2.25;-2.25	2.96	1.92	0.25849	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	.	.	.	.	D	0.90205	0.6938	M	0.64170	1.965	0.09310	N	1	D;D;D	0.89917	1.0;0.991;0.983	D;P;P	0.76071	0.987;0.742;0.823	T	0.78790	-0.2066	9	0.54805	T	0.06	.	5.9164	0.19057	0.0:0.8519:0.0:0.1481	.	170;170;170	E7ESD7;Q9UHX3;Q9UHX3-2	.;EMR2_HUMAN;.	R	170	ENSP00000319883:G170R;ENSP00000376694:G170R;ENSP00000376692:G170R	ENSP00000319883:G170R	G	-	1	0	EMR2	14738173	0.000000	0.05858	0.001000	0.08648	0.022000	0.10575	0.215000	0.17562	0.828000	0.34709	0.494000	0.49563	GGA		0.622	EMR2-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000466502.2			20	64	0	0	0	1	0	20	64					T	14877173	C	T	14877173	3	4	106	1	0	0	0	0	1	0	0	0	5105	661	23	2	2023	2	EMR2	19	14877173	Missense_Mutation	SNP	C	TCGA-EJ-8468-01A-21D-2395-08	2375780	14877173	44251810	29	5810											
MYO9B	4650	broad.mit.edu	37	chr19	17311626	17311626	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctcaagtacctggacgagttCctgctcaacaaggtgggatc	10	9	11	11	1	2	0	2	0	0	0	4	3	3	2	2	3	3	3	2	3	4	2			TCGA-EJ-8468-01A-21D-2395-08	TCGA-EJ-8468-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3dfed002-b5bd-4fb8-abad-1fcd74db1b68	dc7c3b1b-f5f0-414c-8b07-2338277264c3	g.chr19:17311626C>A	ENST00000594824.1	+	26	4698	c.4551C>A	c.(4549-4551)ttC>ttA	p.F1517L	MYO9B_ENST00000397274.2_Missense_Mutation_p.F1517L|MYO9B_ENST00000595618.1_Missense_Mutation_p.F1517L			Q13459	MYO9B_HUMAN	myosin IXB	1517	Tail.				actin filament-based movement (GO:0030048)|establishment of cell polarity (GO:0030010)|lamellipodium morphogenesis (GO:0072673)|macrophage chemotaxis (GO:0048246)|monocyte chemotaxis (GO:0002548)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|filamentous actin (GO:0031941)|filopodium tip (GO:0032433)|lamellipodium (GO:0030027)|membrane (GO:0016020)|myosin complex (GO:0016459)|perinuclear region of cytoplasm (GO:0048471)|ruffle (GO:0001726)	actin binding (GO:0003779)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|Rho GTPase activator activity (GO:0005100)|zinc ion binding (GO:0008270)			breast(3)|endometrium(9)|kidney(2)|large_intestine(1)|lung(19)|soft_tissue(1)|urinary_tract(4)	39						TGGACGAGTTCCTGCTCAACA	0.552																																						ENST00000595618.1																			0				breast(3)|endometrium(9)|kidney(2)|large_intestine(1)|lung(19)|soft_tissue(1)|urinary_tract(4)	39						c.(4549-4551)ttC>ttA		myosin IXB							122	126	125					19																	17311626		2060	4185	6245	SO:0001583	missense	4650				actin filament-based movement	cell cortex|cytosol|filamentous actin|myosin complex|perinuclear region of cytoplasm	actin binding|ADP binding|ATP binding|ATPase activity|calmodulin binding|metal ion binding|microfilament motor activity|Rho GTPase activator activity	g.chr19:17311626C>A		CCDS46010.1	19p13.1	2011-09-27				ENSG00000099331		"Myosins / Myosin superfamily : Class IX"	7609	protein-coding gene	gene with protein product		602129		CELIAC4		9226381	Standard	NM_004145		Approved		uc010eak.3	Q13459		ENST00000594824.1:c.4551C>A	19.37:g.17311626C>A	ENSP00000471367:p.Phe1517Leu					MYO9B_ENST00000594824.1_Missense_Mutation_p.F1517L|MYO9B_ENST00000397274.2_Missense_Mutation_p.F1517L	p.F1517L	NM_001130065.1|NM_004145.3	NP_001123537.1|NP_004136.2	Q13459	MYO9B_HUMAN			26	4703	+			1517			Tail.		O75314|Q9NUJ2|Q9UHN0	Missense_Mutation	SNP	ENST00000594824.1	37	c.4551C>A		.	.	.	.	.	.	.	.	.	.	C	14.42	2.530528	0.45073	.	.	ENSG00000099331	ENST00000397274	D	0.91577	-2.87	4.68	1.29	0.21616	.	0.000000	0.56097	D	0.000023	D	0.88786	0.6531	M	0.78456	2.415	0.45490	D	0.998451	B;B;B;B	0.16802	0.019;0.015;0.019;0.009	B;B;B;B	0.19391	0.014;0.025;0.014;0.011	T	0.82952	-0.0202	10	0.72032	D	0.01	.	9.02	0.36193	0.0:0.7527:0.0:0.2473	.	1517;1517;1517;1523	Q13459;Q13459-2;B0I1T6;Q4LE74	MYO9B_HUMAN;.;.;.	L	1517	ENSP00000380444:F1517L	ENSP00000380444:F1517L	F	+	3	2	MYO9B	17172626	0.998000	0.40836	0.999000	0.59377	0.782000	0.44232	0.517000	0.22832	0.074000	0.16767	0.436000	0.28706	TTC		0.552	MYO9B-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000463236.1			20	53	1	0	1.15919e-05	1	1.27808e-05	20	53					A	17311626	C	A	17311626	3	1	106	1	0	0	0	0	1	0	0	0	10085	854	30	5	4649	5	MYO9B	19	17311626	Missense_Mutation	SNP	C	TCGA-EJ-8468-01A-21D-2395-08	2434453	17311626	41817357	30	5811											
ZNF208	7757	broad.mit.edu	37	chr19	22155727	22155727	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tccataaggtttgaggaccaGttgaaagctttgccacattc	11	12	9	9	0	0	2	0	2	0	0	2	3	1	3	3	2	2	3	3	2	2	5			TCGA-EJ-8468-01A-21D-2395-08	TCGA-EJ-8468-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3dfed002-b5bd-4fb8-abad-1fcd74db1b68	dc7c3b1b-f5f0-414c-8b07-2338277264c3	g.chr19:22155727G>C	ENST00000397126.4	-	4	2257	c.2109C>G	c.(2107-2109)aaC>aaG	p.N703K	ZNF208_ENST00000601773.1_Intron|ZNF208_ENST00000599916.1_Intron	NM_007153.3	NP_009084.2	O43345	ZN208_HUMAN	zinc finger protein 208	703					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				TTGAGGACCAGTTGAAAGCTT	0.378																																						ENST00000397126.4																			0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113						c.(2107-2109)aaC>aaG		zinc finger protein 208							37	38	38					19																	22155727		2007	4196	6203	SO:0001583	missense	7757							g.chr19:22155727G>C	BC038199	CCDS54240.1	19p12	2013-01-08				ENSG00000160321		"Zinc fingers, C2H2-type", "-"	12999	protein-coding gene	gene with protein product	"zinc finger protein 95"	603977				9724325	Standard	NM_007153		Approved	PMIDP, ZNF95	uc021urr.1	O43345		ENST00000397126.4:c.2109C>G	19.37:g.22155727G>C	ENSP00000380315:p.Asn703Lys					ZNF208_ENST00000599916.1_Intron|ZNF208_ENST00000601773.1_Intron	p.N703K	NM_007153.3	NP_009084.2					4	2257	-		all_lung(12;0.0961)|Lung NSC(12;0.103)							Missense_Mutation	SNP	ENST00000397126.4	37	c.2109C>G	CCDS54240.1	.	.	.	.	.	.	.	.	.	.	G	0.081	-1.183154	0.01620	.	.	ENSG00000160321	ENST00000397126;ENST00000428290	T	0.07327	3.2	2.43	-3.82	0.04281	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.04182	0.0116	.	.	.	0.09310	N	1	B	0.27997	0.197	B	0.28139	0.086	T	0.42327	-0.9458	8	0.32370	T	0.25	.	1.3496	0.02170	0.2913:0.1657:0.3789:0.1641	.	603	O43345	ZN208_HUMAN	K	703;603	ENSP00000380315:N703K	ENSP00000380315:N703K	N	-	3	2	ZNF208	21947567	0.000000	0.05858	0.000000	0.03702	0.030000	0.12068	-5.769000	0.00099	-0.568000	0.06038	0.280000	0.19369	AAC		0.378	ZNF208-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464302.1	NM_007153		9	42	0	0	0	1	0	9	42					C	22155727	G	C	22155727	3	2	106	1	0	0	0	0	1	0	0	0	17763	1020	36	5	1737	5	ZNF208	19	22155727	Missense_Mutation	SNP	G	TCGA-EJ-8468-01A-21D-2395-08	4844101	22155727	36973256	31	5812											
ZC3H4	23211	broad.mit.edu	37	chr19	47570989	47570989	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tcccttctggaggcgggggtCccccagcccactgctgctca	4	8	12	17	1	2	0	1	0	1	0	4	1	4	1	4	4	3	2	4	4	0	1			TCGA-EJ-8468-01A-21D-2395-08	TCGA-EJ-8468-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3dfed002-b5bd-4fb8-abad-1fcd74db1b68	dc7c3b1b-f5f0-414c-8b07-2338277264c3	g.chr19:47570989C>A	ENST00000253048.5	-	15	2573	c.2536G>T	c.(2536-2538)Gac>Tac	p.D846Y	ZC3H4_ENST00000594019.1_Intron	NM_015168.1	NP_055983.1	Q9UPT8	ZC3H4_HUMAN	zinc finger CCCH-type containing 4	846							metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	41		all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889)		OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372)		AGGCGGGGGTCCCCCAGCCCA	0.682																																						ENST00000253048.5																			0				NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	41						c.(2536-2538)Gac>Tac		zinc finger CCCH-type containing 4							12	14	14					19																	47570989		1922	4112	6034	SO:0001583	missense	23211						nucleic acid binding|zinc ion binding	g.chr19:47570989C>A	AB028987	CCDS42582.1	19q13.33	2012-07-05	2007-10-18	2007-10-18		ENSG00000130749		"Zinc fingers, CCCH-type domain containing"	17808	protein-coding gene	gene with protein product			"chromosome 19 open reading frame 7"	C19orf7			Standard	NM_015168		Approved	KIAA1064	uc002pga.4	Q9UPT8		ENST00000253048.5:c.2536G>T	19.37:g.47570989C>A	ENSP00000253048:p.Asp846Tyr					ZC3H4_ENST00000594019.1_Intron	p.D846Y	NM_015168.1	NP_055983.1	Q9UPT8	ZC3H4_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372)	15	2573	-		all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889)	846					Q9Y420	Missense_Mutation	SNP	ENST00000253048.5	37	c.2536G>T	CCDS42582.1	.	.	.	.	.	.	.	.	.	.	C	19.33	3.807774	0.70797	.	.	ENSG00000130749	ENST00000253048	T	0.46451	0.87	5.28	5.28	0.74379	.	0.218384	0.27971	N	0.017107	T	0.63248	0.2495	M	0.64404	1.975	0.58432	D	0.999999	D	0.89917	1.0	D	0.73380	0.98	T	0.65425	-0.6171	10	0.87932	D	0	.	18.0536	0.89357	0.0:1.0:0.0:0.0	.	846	Q9UPT8	ZC3H4_HUMAN	Y	846	ENSP00000253048:D846Y	ENSP00000253048:D846Y	D	-	1	0	ZC3H4	52262829	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	5.306000	0.65756	2.642000	0.89623	0.655000	0.94253	GAC		0.682	ZC3H4-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466667.1			6	13	1	0	0.0215528	1	0.0215528	6	13					A	47570989	C	A	47570989	3	1	106	1	0	0	0	0	1	0	0	0	17567	855	30	5	1379	5	ZC3H4	19	47570989	Missense_Mutation	SNP	C	TCGA-EJ-8468-01A-21D-2395-08	25415262	47570989	11557994	32	5813											
MTMR3	8897	broad.mit.edu	37	chr22	30416351	30416351	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gtggggtctgtggtgcatagGacttcccttggcagcactct	5	12	14	10	0	2	0	0	0	2	0	3	1	3	1	1	5	2	3	1	5	1	3			TCGA-EJ-8468-01A-21D-2395-08	TCGA-EJ-8468-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3dfed002-b5bd-4fb8-abad-1fcd74db1b68	dc7c3b1b-f5f0-414c-8b07-2338277264c3	g.chr22:30416351G>A	ENST00000401950.2	+	17	3045	c.2703G>A	c.(2701-2703)agG>agA	p.R901R	MTMR3_ENST00000323630.5_Silent_p.R765R|MTMR3_ENST00000406629.1_Silent_p.R901R|CTA-85E5.10_ENST00000429350.1_RNA|MTMR3_ENST00000333027.3_Silent_p.R901R|MTMR3_ENST00000351488.3_Silent_p.R901R|CTA-85E5.10_ENST00000453743.2_RNA	NM_021090.3	NP_066576.1	Q13615	MTMR3_HUMAN	myotubularin related protein 3	901					peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|protein dephosphorylation (GO:0006470)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extrinsic component of membrane (GO:0019898)|membrane (GO:0016020)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity (GO:0052629)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)			breast(3)|large_intestine(3)|ovary(2)|skin(8)|upper_aerodigestive_tract(1)	17			OV - Ovarian serous cystadenocarcinoma(5;0.00204)|Epithelial(10;0.06)|all cancers(5;0.107)			TGGTGCATAGGACTTCCCTTG	0.562																																						ENST00000333027.3																			0				breast(3)|large_intestine(3)|ovary(2)|skin(8)|upper_aerodigestive_tract(1)	17						c.(2701-2703)agG>agA		myotubularin related protein 3							85	83	84					22																	30416351		2203	4300	6503	SO:0001819	synonymous_variant	8897				phosphatidylinositol dephosphorylation	cytoplasm|membrane|membrane fraction|nucleus	metal ion binding|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity	g.chr22:30416351G>A	U58034	CCDS13870.1, CCDS13871.1, CCDS46682.1	22q12.2	2011-06-09			ENSG00000100330	ENSG00000100330		"Zinc fingers, FYVE domain containing", "Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"	7451	protein-coding gene	gene with protein product		603558				8640223, 9736772	Standard	NM_153050		Approved	KIAA0371, ZFYVE10, FYVE-DSP1	uc003agv.4	Q13615	OTTHUMG00000151278	ENST00000401950.2:c.2703G>A	22.37:g.30416351G>A						MTMR3_ENST00000406629.1_Silent_p.R901R|CTA-85E5.10_ENST00000429350.1_RNA|MTMR3_ENST00000323630.5_Silent_p.R765R|MTMR3_ENST00000401950.2_Silent_p.R901R|MTMR3_ENST00000351488.3_Silent_p.R901R	p.R901R	NM_153050.2|NM_153051.2	NP_694690.1|NP_694691.1	Q13615	MTMR3_HUMAN	OV - Ovarian serous cystadenocarcinoma(5;0.00204)|Epithelial(10;0.06)|all cancers(5;0.107)		17	3031	+			901					A5PL26|A7MD32|Q9NYN5|Q9NYN6|Q9UDX6|Q9UEG3	Silent	SNP	ENST00000401950.2	37	c.2703G>A	CCDS13870.1																																																																																				0.562	MTMR3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000322066.1	NM_021090		17	51	0	0	0	1	0	17	51					A	30416351	G	A	30416351	2	1	106	1	0	0	0	0	0	0	0	1	9945	1165	41	3		3	MTMR3	22	30416351	Silent	SNP	G	TCGA-EJ-8468-01A-21D-2395-08		30416351	20888215	33	5814											
PI4KB	5298	broad.mit.edu	37	chr1	151278805	151278805	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggtggtgtcaaagttttcaCattcaaggacttccacataa	12	13	8	8	0	3	0	3	0	0	0	4	1	4	1	1	3	0	1	1	3	3	5			TCGA-EJ-8469-01A-11D-2395-08	TCGA-EJ-8469-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4f80437-b585-4146-b6e0-9e8e44fef3da	77d692db-a5c0-4d14-926a-d2f81943505a	g.chr1:151278805C>A	ENST00000368873.1	-	5	1385	c.1217G>T	c.(1216-1218)tGt>tTt	p.C406F	PI4KB_ENST00000529142.1_Missense_Mutation_p.C74F|PI4KB_ENST00000271657.5_Missense_Mutation_p.C418F|PI4KB_ENST00000368874.4_Missense_Mutation_p.C391F|PI4KB_ENST00000368875.2_Missense_Mutation_p.C418F|PI4KB_ENST00000368872.1_Missense_Mutation_p.C391F			Q9UBF8	PI4KB_HUMAN	phosphatidylinositol 4-kinase, catalytic, beta	406					phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|receptor-mediated endocytosis (GO:0006898)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi membrane (GO:0000139)|mitochondrial outer membrane (GO:0005741)|plasma membrane (GO:0005886)	1-phosphatidylinositol 4-kinase activity (GO:0004430)|ATP binding (GO:0005524)			breast(3)|endometrium(5)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	27	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			AAAGTTTTCACATTCAAGGAC	0.493																																					Colon(154;765 1838 9854 28443 37492)	ENST00000368875.2																			0				breast(3)|endometrium(5)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	27						c.(1252-1254)tGt>tTt		phosphatidylinositol 4-kinase, catalytic, beta							57	55	56					1																	151278805		2203	4300	6503	SO:0001583	missense	5298				phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|receptor-mediated endocytosis	endosome|Golgi apparatus|mitochondrial outer membrane|perinuclear region of cytoplasm|rough endoplasmic reticulum membrane	1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding	g.chr1:151278805C>A	AB005910	CCDS993.1, CCDS55637.1, CCDS55638.1	1q21	2008-02-05	2007-08-14	2007-08-02	ENSG00000143393	ENSG00000143393			8984	protein-coding gene	gene with protein product		602758		PIK4CB		9020160, 9405938	Standard	NM_002651		Approved	PI4K-BETA, pi4K92	uc001exu.3	Q9UBF8	OTTHUMG00000012348	ENST00000368873.1:c.1217G>T	1.37:g.151278805C>A	ENSP00000357867:p.Cys406Phe					PI4KB_ENST00000368872.1_Missense_Mutation_p.C391F|PI4KB_ENST00000529142.1_Missense_Mutation_p.C74F|PI4KB_ENST00000271657.5_Missense_Mutation_p.C418F|PI4KB_ENST00000368873.1_Missense_Mutation_p.C406F|PI4KB_ENST00000368874.4_Missense_Mutation_p.C391F	p.C418F	NM_002651.2	NP_002642.1	Q9UBF8	PI4KB_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)		6	1833	-	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		406					B4DGI2|O15096|P78405|Q5VWB9|Q5VWC0|Q5VWC1|Q9BWR6	Missense_Mutation	SNP	ENST00000368873.1	37	c.1253G>T		.	.	.	.	.	.	.	.	.	.	C	33	5.253572	0.95336	.	.	ENSG00000143393	ENST00000368874;ENST00000368875;ENST00000271657;ENST00000368873;ENST00000529142;ENST00000368872;ENST00000430800;ENST00000489223	T;T;T;T;T;T;T;T	0.68331	-0.31;-0.32;-0.32;-0.31;-0.24;-0.31;2.0;2.0	5.88	5.88	0.94601	Protein kinase-like domain (1);	0.000000	0.85682	D	0.000000	T	0.73583	0.3605	M	0.64404	1.975	0.80722	D	1	P;D;D	0.61080	0.695;0.989;0.979	P;P;P	0.59424	0.482;0.857;0.7	T	0.72434	-0.4295	10	0.48119	T	0.1	-6.4773	18.8019	0.92022	0.0:1.0:0.0:0.0	.	406;391;74	Q9UBF8;Q9UBF8-2;Q9UBF8-3	PI4KB_HUMAN;.;.	F	391;418;418;406;74;391;74;74	ENSP00000357868:C391F;ENSP00000357869:C418F;ENSP00000271657:C418F;ENSP00000357867:C406F;ENSP00000433149:C74F;ENSP00000357866:C391F;ENSP00000413599:C74F;ENSP00000431501:C74F	ENSP00000271657:C418F	C	-	2	0	PI4KB	149545429	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.211000	0.77933	2.779000	0.95612	0.650000	0.86243	TGT		0.493	PI4KB-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000034400.3	NM_002651		4	93	1	0	0.00024832	0.150653	0.000268186	4	93					A	151278805	C	A	151278805	3	1	107	1	0	0	0	0	1	0	0	0	11874	478	17	5	1265	5	PI4KB	1	151278805	Missense_Mutation	SNP	C	TCGA-EJ-8469-01A-11D-2395-08		151278805	97971816	1	5815											
RPTN	126638	broad.mit.edu	37	chr1	152128689	152128689	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcttgtctgtccgtctgacCgtagtgggaactctggcctt	4	14	12	11	2	4	1	0	1	4	0	5	2	5	2	3	2	1	1	3	2	2	3	rs201025925		TCGA-EJ-8469-01A-11D-2395-08	TCGA-EJ-8469-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4f80437-b585-4146-b6e0-9e8e44fef3da	77d692db-a5c0-4d14-926a-d2f81943505a	g.chr1:152128689C>T	ENST00000316073.3	-	3	950	c.886G>A	c.(886-888)Ggt>Agt	p.G296S		NM_001122965.1	NP_001116437.1	Q6XPR3	RPTN_HUMAN	repetin	296	Gln-rich.					cornified envelope (GO:0001533)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						TCCGTCTGACCGTAGTGGGAA	0.498													C|||	1	0.000199681	8e-04	0	5008	,	,		22400	0		0	False		,,,				2504	0					ENST00000316073.3																			0				breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						c.(886-888)Ggt>Agt		repetin							597	514	540					1																	152128689		1568	3582	5150	SO:0001583	missense	126638					proteinaceous extracellular matrix	calcium ion binding	g.chr1:152128689C>T	AK096436	CCDS41397.1	1q21.3	2013-01-10			ENSG00000215853	ENSG00000215853		"EF-hand domain containing"	26809	protein-coding gene	gene with protein product		613259				15854042	Standard	NM_001122965		Approved	FLJ39117	uc001ezs.1	Q6XPR3	OTTHUMG00000154095	ENST00000316073.3:c.886G>A	1.37:g.152128689C>T	ENSP00000317895:p.Gly296Ser						p.G296S	NM_001122965.1	NP_001116437.1	Q6XPR3	RPTN_HUMAN			3	950	-			296			Gln-rich.		B7ZBZ3	Missense_Mutation	SNP	ENST00000316073.3	37	c.886G>A	CCDS41397.1	3	0.0013736263736263737	3	0.006097560975609756	0	0.0	0	0.0	0	0.0	C	16.30	3.083172	0.55861	.	.	ENSG00000215853	ENST00000316073	T	0.12984	2.63	4.73	-0.515	0.11954	.	.	.	.	.	T	0.07098	0.0180	L	0.33792	1.035	0.09310	N	1	D	0.65815	0.995	P	0.54140	0.743	T	0.25398	-1.0133	9	0.49607	T	0.09	-8.2231	8.1514	0.31143	0.0:0.4582:0.0:0.5418	.	296	Q6XPR3	RPTN_HUMAN	S	296	ENSP00000317895:G296S	ENSP00000317895:G296S	G	-	1	0	RPTN	150395313	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	-0.770000	0.04705	0.098000	0.17522	-0.409000	0.06214	GGT		0.498	RPTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333867.1	XM_371312		7	981	0	0	0	0.184627	0	7	981					T	152128689	C	T	152128689	3	4	107	1	0	0	0	0	1	0	0	0	13664	652	23	2	1472	2	RPTN	1	152128689	Missense_Mutation	SNP	C	TCGA-EJ-8469-01A-11D-2395-08	849884	152128689	97121932	2	5816											
PRG4	10216	broad.mit.edu	37	chr1	186276640	186276640	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggaacctgcacccaccaccAccaagaagcctgcacccacc	13	2	6	20	0	0	1	0	0	0	1	0	2	0	2	8	1	4	2	8	1	3	0			TCGA-EJ-8469-01A-11D-2395-08	TCGA-EJ-8469-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4f80437-b585-4146-b6e0-9e8e44fef3da	77d692db-a5c0-4d14-926a-d2f81943505a	g.chr1:186276640A>C	ENST00000445192.2	+	7	1834	c.1789A>C	c.(1789-1791)Acc>Ccc	p.T597P	PRG4_ENST00000367483.4_Missense_Mutation_p.T556P|PRG4_ENST00000367486.3_Missense_Mutation_p.T554P|PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367485.4_Missense_Mutation_p.T504P	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	597	59 X 8 AA repeats of K-X-P-X-P-T-T-X.				cell proliferation (GO:0008283)|hematopoietic stem cell proliferation (GO:0071425)|immune response (GO:0006955)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|regulation of cell proliferation (GO:0042127)	extracellular space (GO:0005615)	polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)	p.T597P(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						ACCCACCACCACCAAGAAGCC	0.652																																						ENST00000445192.2																			1	Substitution - Missense(1)	p.T597P(1)	prostate(1)	NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						c.(1789-1791)Acc>Ccc		proteoglycan 4							87	83	85					1																	186276640		2203	4300	6503	SO:0001583	missense	10216				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity	g.chr1:186276640A>C	U70136	CCDS1369.1, CCDS44287.1, CCDS44288.1	1q25-q31	2008-07-18	2004-11-15		ENSG00000116690	ENSG00000116690			9364	protein-coding gene	gene with protein product	"lubricin", "megakaryocyte stimulating factor", "articular superficial zone protein", "Jacobs camptodactyly-arthropathy-pericarditis syndrome", "camptodactyly, arthropathy, coxa vara, pericarditis syndrome", "bG174L6.2 (MSF: megakaryocyte stimulating factor )"	604283	"proteoglycan 4, (megakaryocyte stimulating factor, articular superficial zone protein, camptodactyly, arthropathy, coxa vara, pericarditis syndrome)"	CACP		10545950, 9920774	Standard	NM_005807		Approved	JCAP, SZP, MSF, HAPO, bG174L6.2, FLJ32635	uc001gru.4	Q92954	OTTHUMG00000035574	ENST00000445192.2:c.1789A>C	1.37:g.186276640A>C	ENSP00000399679:p.Thr597Pro					PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367483.4_Missense_Mutation_p.T556P|PRG4_ENST00000367485.4_Missense_Mutation_p.T504P|PRG4_ENST00000367486.3_Missense_Mutation_p.T554P	p.T597P	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN			7	1834	+			597			59 X 8 AA repeats of K-X-P-X-P-T-T-X.		Q6DNC4|Q6DNC5|Q6ZMZ5|Q9BX49	Missense_Mutation	SNP	ENST00000445192.2	37	c.1789A>C	CCDS1369.1	.	.	.	.	.	.	.	.	.	.	A	1.907	-0.451678	0.04572	.	.	ENSG00000116690	ENST00000367486;ENST00000367482;ENST00000367483;ENST00000367485;ENST00000445192	T;T;T;T	0.04360	3.64;3.75;3.64;3.73	2.4	-2.78	0.05859	.	0.762931	0.10621	N	0.653340	T	0.01189	0.0039	N	0.00465	-1.465	0.09310	N	1	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.01281	0.0;0.0;0.0;0.0	T	0.47736	-0.9094	9	.	.	.	.	7.4224	0.27079	0.6922:0.2055:0.0:0.1023	.	463;504;597;556	Q92954-4;Q92954-3;Q92954;Q92954-2	.;.;PRG4_HUMAN;.	P	554;463;556;504;597	ENSP00000356456:T554P;ENSP00000356453:T556P;ENSP00000356455:T504P;ENSP00000399679:T597P	.	T	+	1	0	PRG4	184543263	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.955000	0.00675	-1.097000	0.03042	-4.201000	0.00009	ACC		0.652	PRG4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000086346.1	NM_005807		8	197	0	0	0	0.654019	0	8	197					C	186276640	A	C	186276640	3	2	107	1	0	0	0	0	1	0	0	0	12481	159	6	5	1811	5	PRG4	1	186276640	Missense_Mutation	SNP	A	TCGA-EJ-8469-01A-11D-2395-08	34147951	186276640	62973981	3	5817											
SOX13	9580	broad.mit.edu	37	chr1	204082093	204082093	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gctggccctggatggcgttgGcaccatggtgaactgcacca	7	8	14	12	1	0	1	0	1	0	0	0	2	0	2	3	5	2	4	3	5	1	1			TCGA-EJ-8469-01A-11D-2395-08	TCGA-EJ-8469-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4f80437-b585-4146-b6e0-9e8e44fef3da	77d692db-a5c0-4d14-926a-d2f81943505a	g.chr1:204082093G>A	ENST00000367204.1	+	2	159	c.50G>A	c.(49-51)gGc>gAc	p.G17D	SOX13_ENST00000367203.4_3'UTR	NM_005686.2	NP_005677.2	Q9UN79	SOX13_HUMAN	SRY (sex determining region Y)-box 13	17					anatomical structure morphogenesis (GO:0009653)|regulation of gamma-delta T cell differentiation (GO:0045586)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|ovary(2)|prostate(2)	13	all_cancers(21;0.0754)|Breast(84;0.116)|all_epithelial(62;0.189)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109)			GATGGCGTTGGCACCATGGTG	0.612																																						ENST00000367204.1																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|ovary(2)|prostate(2)	13						c.(49-51)gGc>gAc		SRY (sex determining region Y)-box 13							32	37	36					1																	204082093		2028	4187	6215	SO:0001583	missense	9580				anatomical structure morphogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr1:204082093G>A		CCDS44299.1	1q32	2008-07-18			ENSG00000143842	ENSG00000143842		"SRY (sex determining region Y)-boxes"	11192	protein-coding gene	gene with protein product	"islet cell antibody 12", "SRY-related HMG-box gene 13", "type 1 diabetes autoantigen", "SRY-box 13"	604748				10198172	Standard	NM_005686		Approved	Sox-13, ICA12, MGC117216	uc001ham.3	Q9UN79	OTTHUMG00000036050	ENST00000367204.1:c.50G>A	1.37:g.204082093G>A	ENSP00000356172:p.Gly17Asp					SOX13_ENST00000367203.4_3'UTR	p.G17D	NM_005686.2	NP_005677.2	Q9UN79	SOX13_HUMAN	KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109)		2	159	+	all_cancers(21;0.0754)|Breast(84;0.116)|all_epithelial(62;0.189)		17					B4E2B0|O95275|O95826|Q3KQV7|Q5SXX1|Q9UHW7	Missense_Mutation	SNP	ENST00000367204.1	37	c.50G>A	CCDS44299.1	.	.	.	.	.	.	.	.	.	.	G	19.29	3.799425	0.70567	.	.	ENSG00000143842	ENST00000367204;ENST00000525442;ENST00000528591	D	0.97870	-4.58	5.36	5.36	0.76844	.	.	.	.	.	D	0.95636	0.8581	L	0.44542	1.39	0.29308	N	0.868233	P	0.41748	0.761	B	0.40702	0.338	D	0.91426	0.5162	9	0.14252	T	0.57	.	16.8364	0.85957	0.0:0.0:1.0:0.0	.	17	Q9UN79	SOX13_HUMAN	D	17	ENSP00000356172:G17D	ENSP00000356172:G17D	G	+	2	0	SOX13	202348716	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.570000	0.60872	2.504000	0.84457	0.585000	0.79938	GGC		0.612	SOX13-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087881.2	NM_005686		4	88	0	0	0	0.150653	0	4	88					A	204082093	G	A	204082093	3	1	107	1	0	0	0	0	1	0	0	0	14944	1203	42	3	52	3	SOX13	1	204082093	Missense_Mutation	SNP	G	TCGA-EJ-8469-01A-11D-2395-08	17805453	204082093	45168528	4	5818											
ADCY3	109	broad.mit.edu	37	chr2	25046161	25046161	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gctctcctctgtgtagaagtCagcaaagttgggcagggagg	9	9	15	8	0	3	1	1	0	2	1	4	2	3	2	1	3	1	5	1	3	3	2			TCGA-EJ-8469-01A-11D-2395-08	TCGA-EJ-8469-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4f80437-b585-4146-b6e0-9e8e44fef3da	77d692db-a5c0-4d14-926a-d2f81943505a	g.chr2:25046161C>T	ENST00000260600.5	-	17	3651	c.2800G>A	c.(2800-2802)Gac>Aac	p.D934N	RP11-443B20.1_ENST00000606114.1_RNA|ADCY3_ENST00000405392.1_Missense_Mutation_p.D521N	NM_004036.3	NP_004027.2	O60266	ADCY3_HUMAN	adenylate cyclase 3	934					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|sensory perception of smell (GO:0007608)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cilium (GO:0005929)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)			NS(1)|breast(5)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(4)|skin(2)	44	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.203)					GTGTAGAAGTCAGCAAAGTTG	0.473																																						ENST00000260600.5																			0				NS(1)|breast(5)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(4)|skin(2)	44						c.(2800-2802)Gac>Aac		adenylate cyclase 3							154	118	131					2																	25046161		2203	4300	6503	SO:0001583	missense	109				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|sensory perception of smell|synaptic transmission|transmembrane transport|water transport	cytoplasm|integral to plasma membrane	ATP binding|calmodulin binding|metal ion binding	g.chr2:25046161C>T	AF033861	CCDS1715.1	2p23.3	2013-02-04			ENSG00000138031	ENSG00000138031	4.6.1.1	"Adenylate cyclases"	234	protein-coding gene	gene with protein product		600291				9920776	Standard	NM_004036		Approved	AC3	uc002rfs.4	O60266	OTTHUMG00000094765	ENST00000260600.5:c.2800G>A	2.37:g.25046161C>T	ENSP00000260600:p.Asp934Asn					ADCY3_ENST00000405392.1_Missense_Mutation_p.D521N	p.D934N	NM_004036.3	NP_004027.2	O60266	ADCY3_HUMAN			17	3651	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.203)		934					B3KT86|Q53T54|Q9UDB1	Missense_Mutation	SNP	ENST00000260600.5	37	c.2800G>A	CCDS1715.1	.	.	.	.	.	.	.	.	.	.	C	36	5.665569	0.96745	.	.	ENSG00000138031	ENST00000260600;ENST00000405392;ENST00000415879	T;T	0.29142	1.58;1.58	5.55	5.55	0.83447	Adenylyl cyclase class-3/4/guanylyl cyclase (5);	0.000000	0.85682	D	0.000000	T	0.51856	0.1699	L	0.46819	1.47	0.80722	D	1	D;D;P	0.89917	0.999;1.0;0.803	D;D;B	0.85130	0.997;0.997;0.424	T	0.48714	-0.9011	10	0.87932	D	0	.	19.2909	0.94098	0.0:1.0:0.0:0.0	.	935;934;521	B7ZLX9;O60266;B3KT86	.;ADCY3_HUMAN;.	N	934;521;909	ENSP00000260600:D934N;ENSP00000384484:D521N	ENSP00000260600:D934N	D	-	1	0	ADCY3	24899665	1.000000	0.71417	0.981000	0.43875	0.996000	0.88848	7.604000	0.82830	2.894000	0.99253	0.655000	0.94253	GAC		0.473	ADCY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211574.2			4	103	0	0	0	0.150653	0	4	103					T	25046161	C	T	25046161	3	4	107	1	0	0	0	0	1	0	0	0	295	826	29	3	654	3	ADCY3	2	25046161	Missense_Mutation	SNP	C	TCGA-EJ-8469-01A-11D-2395-08		25046161	218153212	5	5819											
EIF2AK3	9451	broad.mit.edu	37	chr2	88913315	88913315	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cccactgctttttaccatgaTtttcaggatccaaggcagca	10	12	7	12	0	1	1	1	1	0	0	2	2	2	2	3	2	3	3	3	2	2	5			TCGA-EJ-8469-01A-11D-2395-08	TCGA-EJ-8469-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4f80437-b585-4146-b6e0-9e8e44fef3da	77d692db-a5c0-4d14-926a-d2f81943505a	g.chr2:88913315T>C	ENST00000303236.3	-	2	666	c.365A>G	c.(364-366)aAt>aGt	p.N122S	EIF2AK3_ENST00000419748.1_5'UTR	NM_004836.5	NP_004827.4	Q9NZJ5	E2AK3_HUMAN	eukaryotic translation initiation factor 2-alpha kinase 3	122					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of signaling protein activity involved in unfolded protein response (GO:0006987)|bone mineralization (GO:0030282)|calcium-mediated signaling (GO:0019722)|cellular protein metabolic process (GO:0044267)|chondrocyte development (GO:0002063)|endocrine pancreas development (GO:0031018)|endoplasmic reticulum organization (GO:0007029)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER overload response (GO:0006983)|fat cell differentiation (GO:0045444)|insulin secretion (GO:0030073)|insulin-like growth factor receptor signaling pathway (GO:0048009)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|lactation (GO:0007595)|negative regulation of apoptotic process (GO:0043066)|negative regulation of gene expression (GO:0010629)|negative regulation of myelination (GO:0031642)|negative regulation of translation (GO:0017148)|negative regulation of translational initiation in response to stress (GO:0032057)|ossification (GO:0001503)|positive regulation of protein binding (GO:0032092)|positive regulation of signal transduction (GO:0009967)|protein autophosphorylation (GO:0046777)|protein homooligomerization (GO:0051260)|protein phosphorylation (GO:0006468)|regulation of fatty acid metabolic process (GO:0019217)|response to endoplasmic reticulum stress (GO:0034976)|skeletal system development (GO:0001501)|SREBP signaling pathway (GO:0032933)|translation (GO:0006412)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|eukaryotic translation initiation factor 2alpha kinase activity (GO:0004694)|identical protein binding (GO:0042802)|protein kinase activity (GO:0004672)|protein phosphatase binding (GO:0019903)|protein serine/threonine kinase activity (GO:0004674)			ovary(3)	3						TTTACCATGATTTTCAGGATC	0.358																																					GBM(138;671 1851 16235 39058 45249)	ENST00000303236.3																			0				ovary(3)	3						c.(364-366)aAt>aGt		eukaryotic translation initiation factor 2-alpha kinase 3							121	108	112					2																	88913315		2203	4300	6503	SO:0001583	missense	9451				activation of caspase activity|bone mineralization|calcium-mediated signaling|chondrocyte development|endocrine pancreas development|endoplasmic reticulum organization|endoplasmic reticulum unfolded protein response|ER overload response|insulin secretion|insulin-like growth factor receptor signaling pathway|negative regulation of myelination|negative regulation of translational initiation in response to stress|protein autophosphorylation|protein homooligomerization	endoplasmic reticulum membrane|integral to membrane	ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|identical protein binding	g.chr2:88913315T>C	AF110146	CCDS33241.1	2p12	2008-05-21			ENSG00000172071	ENSG00000172071			3255	protein-coding gene	gene with protein product		604032				10026192, 10575235	Standard	NM_004836		Approved	PEK, PERK	uc002stc.4	Q9NZJ5	OTTHUMG00000155046	ENST00000303236.3:c.365A>G	2.37:g.88913315T>C	ENSP00000307235:p.Asn122Ser					EIF2AK3_ENST00000419748.1_5'UTR	p.N122S	NM_004836.5	NP_004827.4	Q9NZJ5	E2AK3_HUMAN			2	666	-			122					A0AVH1|A0AVH2|B2RCU9|O95846|Q53QY0|Q53SB1	Missense_Mutation	SNP	ENST00000303236.3	37	c.365A>G	CCDS33241.1	.	.	.	.	.	.	.	.	.	.	T	24.7	4.564345	0.86335	.	.	ENSG00000172071	ENST00000303236	T	0.28666	1.6	5.38	5.38	0.77491	Quinonprotein alcohol dehydrogenase-like (2);	0.000000	0.85682	D	0.000000	T	0.52773	0.1755	M	0.64170	1.965	0.46317	D	0.998983	D	0.69078	0.997	D	0.75020	0.985	T	0.54721	-0.8251	10	0.59425	D	0.04	-21.6665	15.3963	0.74798	0.0:0.0:0.0:1.0	.	122	Q9NZJ5	E2AK3_HUMAN	S	122	ENSP00000307235:N122S	ENSP00000307235:N122S	N	-	2	0	EIF2AK3	88694430	1.000000	0.71417	0.997000	0.53966	0.990000	0.78478	7.597000	0.82733	2.028000	0.59812	0.533000	0.62120	AAT		0.358	EIF2AK3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000338233.2	NM_004836		94	128	0	0	0	0.870114	0	94	128					C	88913315	T	C	88913315	3	2	107	1	0	0	0	0	1	0	0	0	4998	1493	52	4	3049	4	EIF2AK3	2	88913315	Missense_Mutation	SNP	T	TCGA-EJ-8469-01A-11D-2395-08	63867154	88913315	154286058	6	5820											
ZAP70	7535	broad.mit.edu	37	chr2	98351892	98351892	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagatggctgggggcgggcCgctgcacaagttcctggtcg	5	7	19	10	3	0	1	0	0	0	1	2	2	1	1	2	6	1	4	2	6	1	1			TCGA-EJ-8469-01A-11D-2395-08	TCGA-EJ-8469-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4f80437-b585-4146-b6e0-9e8e44fef3da	77d692db-a5c0-4d14-926a-d2f81943505a	g.chr2:98351892C>T	ENST00000264972.5	+	10	1477	c.1262C>T	c.(1261-1263)cCg>cTg	p.P421L	ZAP70_ENST00000463643.1_3'UTR|ZAP70_ENST00000442208.1_Missense_Mutation_p.P295L|ZAP70_ENST00000451498.2_Missense_Mutation_p.P114L	NM_001079.3	NP_001070.2	P43403	ZAP70_HUMAN	zeta-chain (TCR) associated protein kinase 70kDa	421	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				adaptive immune response (GO:0002250)|B cell activation (GO:0042113)|beta selection (GO:0043366)|immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|negative thymic T cell selection (GO:0045060)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of alpha-beta T cell proliferation (GO:0046641)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of T cell differentiation (GO:0045582)|positive thymic T cell selection (GO:0045059)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|T cell activation (GO:0042110)|T cell aggregation (GO:0070489)|T cell differentiation (GO:0030217)|T cell migration (GO:0072678)|T cell receptor signaling pathway (GO:0050852)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|immunological synapse (GO:0001772)|plasma membrane (GO:0005886)|T cell receptor complex (GO:0042101)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)	p.P421Q(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	29						GGGGGCGGGCCGCTGCACAAG	0.682																																						ENST00000264972.5																			1	Substitution - Missense(1)	p.P421Q(1)	lung(1)	breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	29						c.(1261-1263)cCg>cTg		zeta-chain (TCR) associated protein kinase 70kDa							73	77	75					2																	98351892		2203	4300	6503	SO:0001583	missense	7535				immune response|intracellular protein kinase cascade|positive thymic T cell selection|T cell receptor signaling pathway	cytosol|T cell receptor complex	ATP binding|non-membrane spanning protein tyrosine kinase activity	g.chr2:98351892C>T	L05148	CCDS33254.1, CCDS33255.1	2q11-q13	2014-09-17	2002-08-29		ENSG00000115085	ENSG00000115085		"SH2 domain containing"	12858	protein-coding gene	gene with protein product		176947	"zeta-chain (TCR) associated protein kinase (70 kD)"	SRK		1423621	Standard	NM_001079		Approved	ZAP-70, STD	uc002syd.1	P43403	OTTHUMG00000153060	ENST00000264972.5:c.1262C>T	2.37:g.98351892C>T	ENSP00000264972:p.Pro421Leu					ZAP70_ENST00000442208.1_Missense_Mutation_p.P295L|ZAP70_ENST00000451498.2_Missense_Mutation_p.P114L|ZAP70_ENST00000463643.1_3'UTR	p.P421L	NM_001079.3	NP_001070.2	P43403	ZAP70_HUMAN			10	1477	+			421			Protein kinase.		A6NFP4|Q6PIA4|Q8IXD6|Q9UBS6	Missense_Mutation	SNP	ENST00000264972.5	37	c.1262C>T	CCDS33254.1	.	.	.	.	.	.	.	.	.	.	C	19.06	3.753255	0.69648	.	.	ENSG00000115085	ENST00000264972;ENST00000442208;ENST00000451498	T;T;T	0.62364	0.03;0.03;0.03	5.65	5.65	0.86999	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.49916	D	0.000134	T	0.68815	0.3042	N	0.26042	0.785	0.80722	D	1	D;D	0.76494	0.999;0.995	D;P	0.65773	0.938;0.868	T	0.71616	-0.4539	10	0.87932	D	0	.	17.5952	0.88010	0.0:1.0:0.0:0.0	.	295;421	P43403-3;P43403	.;ZAP70_HUMAN	L	421;295;114	ENSP00000264972:P421L;ENSP00000411141:P295L;ENSP00000400475:P114L	ENSP00000264972:P421L	P	+	2	0	ZAP70	97718324	1.000000	0.71417	0.994000	0.49952	0.360000	0.29518	5.966000	0.70395	2.844000	0.97970	0.643000	0.83706	CCG		0.682	ZAP70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329278.1			5	206	0	0	0	0.217242	0	5	206					T	98351892	C	T	98351892	3	4	107	1	0	0	0	0	1	0	0	0	17511	652	23	2	1292	2	ZAP70	2	98351892	Missense_Mutation	SNP	C	TCGA-EJ-8469-01A-11D-2395-08	9438577	98351892	144847481	7	5821											
TTN	7273	broad.mit.edu	37	chr2	179592350	179592350	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tagtacaagagtcgctaccaAcatcattggtaacatggcaa	15	9	8	9	1	1	1	1	0	0	1	2	1	1	1	1	2	4	4	1	2	7	5			TCGA-EJ-8469-01A-11D-2395-08	TCGA-EJ-8469-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4f80437-b585-4146-b6e0-9e8e44fef3da	77d692db-a5c0-4d14-926a-d2f81943505a	g.chr2:179592350A>G	ENST00000591111.1	-	66	19228	c.19004T>C	c.(19003-19005)gTt>gCt	p.V6335A	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|RP11-171I2.1_ENST00000590024.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.V5408A|TTN_ENST00000589042.1_Missense_Mutation_p.V6652A			Q8WZ42	TITIN_HUMAN	titin	13111	Ig-like 44.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GTCGCTACCAACATCATTGGT	0.408																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(19954-19956)gTt>gCt		titin							197	200	199					2																	179592350		2077	4220	6297	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179592350A>G	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.19004T>C	2.37:g.179592350A>G	ENSP00000465570:p.Val6335Ala					TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.V5408A|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.V6335A|TTN_ENST00000460472.2_Intron	p.V6652A	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		68	20179	-			6335			Ig-like 48.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.19955T>C		.	.	.	.	.	.	.	.	.	.	A	12.02	1.811681	0.32053	.	.	ENSG00000155657	ENST00000342992	T	0.66460	-0.21	5.99	5.99	0.97316	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.44912	0.1316	N	0.02420	-0.555	0.80722	D	1	B	0.25272	0.122	B	0.20577	0.03	T	0.50021	-0.8876	9	0.87932	D	0	.	16.4943	0.84223	1.0:0.0:0.0:0.0	.	6335	Q8WZ42	TITIN_HUMAN	A	5408	ENSP00000343764:V5408A	ENSP00000343764:V5408A	V	-	2	0	TTN	179300595	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.079000	0.76829	2.291000	0.77112	0.533000	0.62120	GTT		0.408	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		180	296	0	0	0	0.870114	0	180	296					G	179592350	A	G	179592350	3	3	107	1	0	0	0	0	1	0	0	0	16732	43	2	4	84754	4	TTN	2	179592350	Missense_Mutation	SNP	A	TCGA-EJ-8469-01A-11D-2395-08	81240458	179592350	63607023	8	5822											
AGFG1	3267	broad.mit.edu	37	chr2	228388627	228388627	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	caacactgcacttaaataagGgcacacctagtcaggtgagt	14	8	9	10	0	1	1	1	1	0	0	1	1	1	1	1	2	2	2	1	2	5	3			TCGA-EJ-8469-01A-11D-2395-08	TCGA-EJ-8469-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4f80437-b585-4146-b6e0-9e8e44fef3da	77d692db-a5c0-4d14-926a-d2f81943505a	g.chr2:228388627G>A	ENST00000310078.8	+	4	786	c.526G>A	c.(526-528)Ggc>Agc	p.G176S	AGFG1_ENST00000409979.2_Missense_Mutation_p.G176S|AGFG1_ENST00000486932.1_3'UTR|AGFG1_ENST00000409171.1_Missense_Mutation_p.G176S|AGFG1_ENST00000373671.3_Missense_Mutation_p.G176S|AGFG1_ENST00000409315.1_Missense_Mutation_p.G176S	NM_001135188.1|NM_001135189.1|NM_004504.4	NP_001128660.1|NP_001128661.1|NP_004495.2	P52594	AGFG1_HUMAN	ArfGAP with FG repeats 1	176					cell differentiation (GO:0030154)|mRNA export from nucleus (GO:0006406)|multicellular organismal development (GO:0007275)|regulation of ARF GTPase activity (GO:0032312)|spermatogenesis (GO:0007283)	cytoplasmic vesicle (GO:0031410)|intracellular membrane-bounded organelle (GO:0043231)|nuclear pore (GO:0005643)	ARF GTPase activator activity (GO:0008060)|DNA binding (GO:0003677)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|large_intestine(5)|liver(2)|lung(2)|ovary(1)|prostate(1)|skin(4)|stomach(1)	18						CTTAAATAAGGGCACACCTAG	0.433																																						ENST00000310078.7																			0				central_nervous_system(1)|endometrium(1)|large_intestine(5)|liver(2)|lung(2)|ovary(1)|prostate(1)|skin(4)|stomach(1)	18						c.(526-528)Ggc>Agc		ArfGAP with FG repeats 1							124	115	118					2																	228388627		2203	4300	6503	SO:0001583	missense	3267				cell differentiation|mRNA export from nucleus|multicellular organismal development|regulation of ARF GTPase activity|spermatogenesis	cytoplasmic membrane-bounded vesicle|Golgi apparatus|nuclear pore	ARF GTPase activator activity|DNA binding|protein binding|RNA binding|zinc ion binding	g.chr2:228388627G>A		CCDS2467.1, CCDS46533.1, CCDS46534.1, CCDS46535.1	2q36	2009-11-30	2008-09-22	2008-09-22	ENSG00000173744	ENSG00000173744		"ADP-ribosylation factor GTPase activating proteins"	5175	protein-coding gene	gene with protein product		600862	"HIV-1 Rev binding protein"	HRB		7637788	Standard	NM_004504		Approved	RIP, RAB	uc002vpd.2	P52594	OTTHUMG00000133186	ENST00000310078.8:c.526G>A	2.37:g.228388627G>A	ENSP00000312059:p.Gly176Ser					AGFG1_ENST00000409979.2_Missense_Mutation_p.G176S|AGFG1_ENST00000373671.3_Missense_Mutation_p.G176S|AGFG1_ENST00000486932.1_3'UTR|AGFG1_ENST00000409171.1_Missense_Mutation_p.G176S|AGFG1_ENST00000409315.1_Missense_Mutation_p.G176S	p.G176S	NM_001135188.1|NM_004504.4	NP_001128660.1|NP_004495.2	P52594	AGFG1_HUMAN			4	786	+			176					B3KUL1|E9PHX7|Q15277|Q4VAS0|Q4VAS1|Q4VAS3|Q53QT8|Q53R11	Missense_Mutation	SNP	ENST00000310078.8	37	c.526G>A	CCDS2467.1	.	.	.	.	.	.	.	.	.	.	G	8.788	0.929814	0.18131	.	.	ENSG00000173744	ENST00000409979;ENST00000542592;ENST00000310078;ENST00000409315;ENST00000373671;ENST00000409171;ENST00000456594	T;T;T;T;T	0.21191	2.1;2.03;2.07;2.08;2.02	5.83	5.83	0.93111	.	0.106287	0.64402	D	0.000005	T	0.13798	0.0334	N	0.17474	0.49	0.49687	D	0.999817	B;B;B;B	0.31077	0.307;0.007;0.007;0.002	B;B;B;B	0.30179	0.112;0.006;0.004;0.002	T	0.04320	-1.0960	10	0.02654	T	1	-3.2954	20.1133	0.97917	0.0:0.0:1.0:0.0	.	176;176;176;176	P52594-2;P52594-3;E9PHX7;P52594	.;.;.;AGFG1_HUMAN	S	176;161;176;176;176;176;98	ENSP00000387282:G176S;ENSP00000312059:G176S;ENSP00000387154:G176S;ENSP00000362775:G176S;ENSP00000387218:G176S	ENSP00000312059:G176S	G	+	1	0	AGFG1	228096871	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	6.604000	0.74150	2.762000	0.94881	0.591000	0.81541	GGC		0.433	AGFG1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256895.2	NM_004504		23	173	0	0	0	0.654019	0	23	173					A	228388627	G	A	228388627	3	1	107	1	0	0	0	0	1	0	0	0	380	1232	43	3	540	3	AGFG1	2	228388627	Missense_Mutation	SNP	G	TCGA-EJ-8469-01A-11D-2395-08	48796277	228388627	14810746	9	5823											
ITGA9	3680	broad.mit.edu	37	chr3	37512575	37512575	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggggctgtgtttaagtgccGtgttcacaccaaccctgacc	7	11	11	12	1	1	1	1	1	0	0	1	1	1	1	4	2	2	3	4	2	2	3	rs201919539		TCGA-EJ-8469-01A-11D-2395-08	TCGA-EJ-8469-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4f80437-b585-4146-b6e0-9e8e44fef3da	77d692db-a5c0-4d14-926a-d2f81943505a	g.chr3:37512575G>A	ENST00000264741.5	+	2	519	c.263G>A	c.(262-264)cGt>cAt	p.R88H	ITGA9_ENST00000422441.1_Missense_Mutation_p.R88H	NM_002207.2	NP_002198.2	Q13797	ITA9_HUMAN	integrin, alpha 9	88					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|neutrophil chemotaxis (GO:0030593)|wound healing (GO:0042060)	basal plasma membrane (GO:0009925)|integrin alpha9-beta1 complex (GO:0034679)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(17)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|urinary_tract(1)	44				KIRC - Kidney renal clear cell carcinoma(284;0.165)|Kidney(284;0.197)		TTTAAGTGCCGTGTTCACACC	0.532																																						ENST00000264741.5																			0				breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(17)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|urinary_tract(1)	44						c.(262-264)cGt>cAt		integrin, alpha 9							135	125	128					3																	37512575		2203	4300	6503	SO:0001583	missense	3680				axon guidance|cell adhesion|integrin-mediated signaling pathway	integrin complex	receptor activity	g.chr3:37512575G>A	L24158	CCDS2669.1	3p21.3	2010-03-23			ENSG00000144668	ENSG00000144668		"Integrins"	6145	protein-coding gene	gene with protein product	"integrin, alpha 4-like"	603963				8245132, 8290272	Standard	NM_002207		Approved	RLC, ITGA4L, ALPHA-RLC	uc003chd.3	Q13797	OTTHUMG00000130815	ENST00000264741.5:c.263G>A	3.37:g.37512575G>A	ENSP00000264741:p.Arg88His					ITGA9_ENST00000422441.1_Missense_Mutation_p.R88H	p.R88H	NM_002207.2	NP_002198.2	Q13797	ITA9_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.165)|Kidney(284;0.197)	2	519	+			88					Q14638	Missense_Mutation	SNP	ENST00000264741.5	37	c.263G>A	CCDS2669.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	23.8	4.460991	0.84317	.	.	ENSG00000144668	ENST00000422441;ENST00000264741	D;D	0.92446	-3.04;-3.04	4.97	4.09	0.47781	.	0.000000	0.85682	D	0.000000	D	0.93641	0.7969	M	0.66939	2.045	0.52099	D	0.999949	P;D	0.64830	0.796;0.994	B;P	0.58266	0.129;0.836	D	0.92170	0.5743	10	0.35671	T	0.21	.	12.2168	0.54410	0.0851:0.0:0.9149:0.0	.	88;88	Q13797;E9PDS3	ITA9_HUMAN;.	H	88	ENSP00000397258:R88H;ENSP00000264741:R88H	ENSP00000264741:R88H	R	+	2	0	ITGA9	37487579	1.000000	0.71417	0.778000	0.31720	0.989000	0.77384	8.548000	0.90669	1.083000	0.41159	0.563000	0.77884	CGT		0.532	ITGA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253361.1	NM_002207		77	124	0	0	0	0.870114	0	77	124					A	37512575	G	A	37512575	3	1	107	1	0	0	0	0	1	0	0	0	7883	1145	40	1	269	1	ITGA9	3	37512575	Missense_Mutation	SNP	G	TCGA-EJ-8469-01A-11D-2395-08		37512575	160509855	10	5824											
PTPRG	5793	broad.mit.edu	37	chr3	62142813	62142813	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cctgggcagctattatcggtAcacaggttccttgaccacac	9	10	9	13	1	0	1	0	1	0	0	2	1	1	1	3	3	2	4	3	3	3	5			TCGA-EJ-8469-01A-11D-2395-08	TCGA-EJ-8469-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4f80437-b585-4146-b6e0-9e8e44fef3da	77d692db-a5c0-4d14-926a-d2f81943505a	g.chr3:62142813A>G	ENST00000474889.1	+	7	1132	c.755A>G	c.(754-756)tAc>tGc	p.Y252C	PTPRG_ENST00000295874.10_Missense_Mutation_p.Y252C	NM_002841.3	NP_002832.3	P23470	PTPRG_HUMAN	protein tyrosine phosphatase, receptor type, G	252	Alpha-carbonic anhydrase.				brain development (GO:0007420)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of neuron projection development (GO:0010977)|peptidyl-tyrosine dephosphorylation (GO:0035335)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	identical protein binding (GO:0042802)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|liver(2)|lung(15)|ovary(7)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	62				BRCA - Breast invasive adenocarcinoma(55;0.000376)|KIRC - Kidney renal clear cell carcinoma(10;0.0499)|Kidney(10;0.065)		TATTATCGGTACACAGGTTCC	0.512																																						ENST00000474889.1																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|liver(2)|lung(15)|ovary(7)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	62						c.(754-756)tAc>tGc		protein tyrosine phosphatase, receptor type, G							129	123	125					3																	62142813		2203	4300	6503	SO:0001583	missense	5793				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	identical protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr3:62142813A>G	L09247	CCDS2895.1	3p21-p14	2013-02-11			ENSG00000144724	ENSG00000144724		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Fibronectin type III domain containing"	9671	protein-coding gene	gene with protein product		176886		PTPG		1711217	Standard	NM_002841		Approved	RPTPG	uc003dlb.3	P23470	OTTHUMG00000158660	ENST00000474889.1:c.755A>G	3.37:g.62142813A>G	ENSP00000418112:p.Tyr252Cys					PTPRG_ENST00000295874.10_Missense_Mutation_p.Y252C	p.Y252C	NM_002841.3	NP_002832.3	P23470	PTPRG_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000376)|KIRC - Kidney renal clear cell carcinoma(10;0.0499)|Kidney(10;0.065)	7	1132	+			252			Alpha-carbonic anhydrase.		B2RU12|B7ZLX5|Q15623|Q59EE0|Q68DU5	Missense_Mutation	SNP	ENST00000474889.1	37	c.755A>G	CCDS2895.1	.	.	.	.	.	.	.	.	.	.	A	25.8	4.674267	0.88445	.	.	ENSG00000144724	ENST00000474889;ENST00000295874	T;T	0.80304	-1.36;-1.36	5.8	5.8	0.92144	Carbonic anhydrase, alpha-class, catalytic domain (4);	0.000000	0.85682	D	0.000000	D	0.93311	0.7868	H	0.97131	3.945	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.964;0.999	D	0.95403	0.8491	10	0.87932	D	0	.	16.146	0.81569	1.0:0.0:0.0:0.0	.	252;252	P23470-2;P23470	.;PTPRG_HUMAN	C	252	ENSP00000418112:Y252C;ENSP00000295874:Y252C	ENSP00000295874:Y252C	Y	+	2	0	PTPRG	62117853	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	8.896000	0.92521	2.216000	0.71823	0.460000	0.39030	TAC		0.512	PTPRG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351674.1	NM_002841		7	162	0	0	0	0.248553	0	7	162					G	62142813	A	G	62142813	3	3	107	1	0	0	0	0	1	0	0	0	12802	391	14	4	781	4	PTPRG	3	62142813	Missense_Mutation	SNP	A	TCGA-EJ-8469-01A-11D-2395-08	24630238	62142813	135879617	11	5825											
PIK3CA	5290	broad.mit.edu	37	chr3	178936091	178936091	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atcctctctctgaaatcactGagcaggagaaagattttcta	13	12	7	9	0	4	4	1	2	3	2	6	5	5	4	1	1	1	1	1	1	3	3	rs104886003		TCGA-EJ-8469-01A-11D-2395-08	TCGA-EJ-8469-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4f80437-b585-4146-b6e0-9e8e44fef3da	77d692db-a5c0-4d14-926a-d2f81943505a	g.chr3:178936091G>A	ENST00000263967.3	+	10	1790	c.1633G>A	c.(1633-1635)Gag>Aag	p.E545K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	545	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.		E -> A (in CWS5 and HCC; also found in a glioblastoma multiforme sample). {ECO:0000269|PubMed:15608678, ECO:0000269|PubMed:15924253, ECO:0000269|PubMed:23246288}.|E -> G (in KERSEB; also found in an endometrial carcinoma sample). {ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:17673550}.|E -> K (in MCAP, KERSEB, CRC and BC; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells). {ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15712344, ECO:0000269|PubMed:15784156, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:16353168, ECO:0000269|PubMed:16533766, ECO:0000269|PubMed:17673550, ECO:0000269|PubMed:22729224}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.E545K(881)|p.E545Q(18)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	TGAAATCACTGAGCAGGAGAA	0.353	E545K(BC3C_URINARY_TRACT)|E545K(BFTC909_KIDNEY)|E545K(DLD1_LARGE_INTESTINE)|E545K(ESS1_ENDOMETRIUM)|E545K(HCC202_BREAST)|E545K(HCT15_LARGE_INTESTINE)|E545K(HSC4_UPPER_AERODIGESTIVE_TRACT)|E545K(HT1197_URINARY_TRACT)|E545K(HUH28_BILIARY_TRACT)|E545K(KYSE510_OESOPHAGUS)|E545K(L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|E545K(MCF7_BREAST)|E545K(MDAMB361_BREAST)|E545K(MKN1_STOMACH)|E545K(NCIH460_LUNG)|E545K(NCIH508_LARGE_INTESTINE)|E545K(NCIH596_LUNG)|E545K(RERFLCSQ1_LUNG)|E545K(TCCSUP_URINARY_TRACT)|E545K(TE5_OESOPHAGUS)	57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	ENST00000263967.3	E545K(BC3C_URINARY_TRACT)|E545K(BFTC909_KIDNEY)|E545K(DLD1_LARGE_INTESTINE)|E545K(ESS1_ENDOMETRIUM)|E545K(HCC202_BREAST)|E545K(HCT15_LARGE_INTESTINE)|E545K(HSC4_UPPER_AERODIGESTIVE_TRACT)|E545K(HT1197_URINARY_TRACT)|E545K(HUH28_BILIARY_TRACT)|E545K(KYSE510_OESOPHAGUS)|E545K(L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|E545K(MCF7_BREAST)|E545K(MDAMB361_BREAST)|E545K(MKN1_STOMACH)|E545K(NCIH460_LUNG)|E545K(NCIH508_LARGE_INTESTINE)|E545K(NCIH596_LUNG)|E545K(RERFLCSQ1_LUNG)|E545K(TCCSUP_URINARY_TRACT)|E545K(TE5_OESOPHAGUS)	57		Dom	yes		3	3q26.3	5290	Mis	"phosphoinositide-3-kinase, catalytic, alpha polypeptide"			"E, O"			"colorectal, gastric, gliobastoma, breast"		899	Substitution - Missense(899)	p.E545K(881)|p.E545Q(18)	breast(308)|large_intestine(286)|urinary_tract(97)|lung(44)|endometrium(37)|ovary(25)|stomach(17)|upper_aerodigestive_tract(16)|skin(14)|central_nervous_system(13)|cervix(13)|thyroid(7)|oesophagus(7)|penis(4)|kidney(3)|soft_tissue(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(1)|biliary_tract(1)|NS(1)|pituitary(1)	NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269						c.(1633-1635)Gag>Aag		phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha							61	60	60					3																	178936091		1813	4072	5885	SO:0001583	missense	5290				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	g.chr3:178936091G>A		CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"phosphoinositide-3-kinase, catalytic, alpha polypeptide"			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.1633G>A	3.37:g.178936091G>A	ENSP00000263967:p.Glu545Lys	HNSCC(19;0.045)|TSP Lung(28;0.18)					p.E545K	NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		10	1790	+	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		545		E -> A (in cancer).|E -> G (in KERSEB).|E -> K (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells).	PI3K helical.		Q14CW1|Q99762	Missense_Mutation	SNP	ENST00000263967.3	37	c.1633G>A	CCDS43171.1	.	.	.	.	.	.	.	.	.	.	G	36	5.703347	0.96812	.	.	ENSG00000121879	ENST00000263967	T	0.63255	-0.03	5.78	5.78	0.91487	Phosphoinositide 3-kinase, accessory (PIK) domain (3);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.73822	0.3636	L	0.51914	1.62	0.80722	D	1	D	0.62365	0.991	D	0.62955	0.909	T	0.68872	-0.5294	10	0.32370	T	0.25	-25.7963	20.0024	0.97423	0.0:0.0:1.0:0.0	.	545	P42336	PK3CA_HUMAN	K	545	ENSP00000263967:E545K	ENSP00000263967:E545K	E	+	1	0	PIK3CA	180418785	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	9.476000	0.97823	2.722000	0.93159	0.467000	0.42956	GAG		0.353	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2			4	116	0	0	0	0.184627	0	4	116					A	178936091	G	A	178936091	3	1	107	1	0	0	0	0	1	0	0	0	11913	1291	45	3	1667	3	PIK3CA	3	178936091	Missense_Mutation	SNP	G	TCGA-EJ-8469-01A-11D-2395-08	116793278	178936091	19086339	12	5826											
ABCC5	10057	broad.mit.edu	37	chr3	183667864	183667864	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	cccacacagaagaacaccagGataacgttctggatgaacat	16	6	8	11	1	1	3	0	1	1	2	1	5	1	5	2	2	3	1	2	2	4	2			TCGA-EJ-8469-01A-11D-2395-08	TCGA-EJ-8469-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4f80437-b585-4146-b6e0-9e8e44fef3da	77d692db-a5c0-4d14-926a-d2f81943505a	g.chr3:183667864G>A	ENST00000334444.6	-	21	3234	c.2994C>T	c.(2992-2994)atC>atT	p.I998I	ABCC5_ENST00000265586.6_Silent_p.I998I	NM_005688.2	NP_005679.2	O15440	MRP5_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 5	998	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.				carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan biosynthetic process (GO:0030213)|hyaluronan metabolic process (GO:0030212)|organic anion transport (GO:0015711)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)		Adefovir Dipivoxil(DB00718)|Alprostadil(DB00770)|Atorvastatin(DB01076)|Cisplatin(DB00515)|Dinoprostone(DB00917)|Dipyridamole(DB00975)|Fluorouracil(DB00544)|Glutathione(DB00143)|Mercaptopurine(DB01033)|Probenecid(DB01032)|Rifampicin(DB01045)|Sildenafil(DB00203)|Sulfinpyrazone(DB01138)|Zidovudine(DB00495)	AGAACACCAGGATAACGTTCT	0.507																																						ENST00000334444.6																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						c.(2992-2994)atC>atT		ATP-binding cassette, sub-family C (CFTR/MRP), member 5							66	69	68					3																	183667864		2038	4204	6242	SO:0001819	synonymous_variant	10057					integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity	g.chr3:183667864G>A	AF104942	CCDS33898.1, CCDS43176.1	3q27	2012-03-14			ENSG00000114770	ENSG00000114770		"ATP binding cassette transporters / subfamily C"	56	protein-coding gene	gene with protein product		605251				8894702, 9827529	Standard	XM_005247058		Approved	MRP5, SMRP, EST277145, MOAT-C	uc003fmg.3	O15440	OTTHUMG00000156871	ENST00000334444.6:c.2994C>T	3.37:g.183667864G>A						ABCC5_ENST00000265586.6_Silent_p.I998I	p.I998I	NM_005688.2	NP_005679.2	O15440	MRP5_HUMAN	Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)		21	3234	-	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		998			ABC transmembrane type-1 2.		B9EIQ2|O14517|Q29ZA9|Q29ZB1|Q86UX3|Q86W30|Q9UN85|Q9UNP5|Q9UQC3	Silent	SNP	ENST00000334444.6	37	c.2994C>T	CCDS43176.1																																																																																				0.507	ABCC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346350.1	NM_005688		22	51	0	0	0	0.654019	0	22	51					A	183667864	G	A	183667864	2	1	107	1	0	0	0	0	0	0	0	1	56	1164	41	3		3	ABCC5	3	183667864	Silent	SNP	G	TCGA-EJ-8469-01A-11D-2395-08	4731773	183667864	14354566	13	5827											
ZFYVE28	57732	broad.mit.edu	37	chr4	2306052	2306052	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cctgaggcgcctcgtgagccGaggggctcccagcatgcagc	6	5	15	15	3	0	2	0	2	0	0	2	3	1	2	4	3	4	3	4	3	0	0	rs117669252	byFrequency	TCGA-EJ-8469-01A-11D-2395-08	TCGA-EJ-8469-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4f80437-b585-4146-b6e0-9e8e44fef3da	77d692db-a5c0-4d14-926a-d2f81943505a	g.chr4:2306052G>A	ENST00000290974.2	-	8	2354	c.2015C>T	c.(2014-2016)tCg>tTg	p.S672L	RP11-478C1.7_ENST00000510632.1_RNA|ZFYVE28_ENST00000511071.1_Missense_Mutation_p.S642L|ZFYVE28_ENST00000515312.1_Missense_Mutation_p.S602L	NM_020972.2	NP_066023.2	Q9HCC9	LST2_HUMAN	zinc finger, FYVE domain containing 28	672			S -> P (in dbSNP:rs661301). {ECO:0000269|PubMed:10997877, ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334}.		negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of epidermal growth factor-activated receptor activity (GO:0007175)	cytosol (GO:0005829)|early endosome membrane (GO:0031901)	metal ion binding (GO:0046872)|phosphatidylinositol-3-phosphate binding (GO:0032266)	p.S672L(1)		NS(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(4)	31						CTCGTGAGCCGAGGGGCTCCC	0.667													G|||	14	0.00279553	0.0068	0	5008	,	,		15583	0.005		0	False		,,,				2504	0					ENST00000290974.2																			1	Substitution - Missense(1)	p.S672L(1)	kidney(1)	NS(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(4)	31						c.(2014-2016)tCg>tTg		zinc finger, FYVE domain containing 28		G	LEU/SER,LEU/SER,LEU/SER	24,4374		0,24,2175	38	44	42		1925,1805,2015	1.4	0	4	dbSNP_132	42	2,8592		0,2,4295	yes	missense,missense,missense	ZFYVE28	NM_001172656.1,NM_001172659.1,NM_020972.2	145,145,145	0,26,6470	AA,AG,GG		0.0233,0.5457,0.2001	benign,benign,benign	642/858,602/818,672/888	2306052	26,12966	2199	4297	6496	SO:0001583	missense	57732				negative regulation of epidermal growth factor receptor activity	cytosol|early endosome membrane	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding	g.chr4:2306052G>A	AK126692	CCDS33942.1, CCDS54708.1, CCDS54709.1, CCDS54710.1, CCDS54711.1, CCDS54712.1	4p16.3	2008-05-02			ENSG00000159733	ENSG00000159733		"Zinc fingers, FYVE domain containing"	29334	protein-coding gene	gene with protein product		614176				10997877	Standard	NM_020972		Approved	KIAA1643	uc003gex.2	Q9HCC9	OTTHUMG00000160292	ENST00000290974.2:c.2015C>T	4.37:g.2306052G>A	ENSP00000290974:p.Ser672Leu					ZFYVE28_ENST00000515312.1_Missense_Mutation_p.S602L|RP11-478C1.7_ENST00000510632.1_RNA|ZFYVE28_ENST00000511071.1_Missense_Mutation_p.S642L	p.S672L	NM_020972.2	NP_066023.2	Q9HCC9	LST2_HUMAN			8	2354	-			672		S -> P (in dbSNP:rs661301).			B2RP83|B3KX50|B7Z1Q7|B7Z2G9|B7Z2M2|B7ZB19|E9PB54|E9PB64|E9PG77|Q7Z6J3	Missense_Mutation	SNP	ENST00000290974.2	37	c.2015C>T	CCDS33942.1	9	0.004120879120879121	4	0.008130081300813009	0	0.0	5	0.008741258741258742	0	0.0	G	10.50	1.366827	0.24771	0.005457	2.33E-4	ENSG00000159733	ENST00000290974;ENST00000511071;ENST00000515312	T;T;T	0.58506	0.33;0.33;0.33	3.14	1.36	0.22044	.	3.264500	0.00799	N	0.001410	T	0.25531	0.0621	N	0.03608	-0.345	0.09310	N	1	B;B	0.13145	0.007;0.0	B;B	0.04013	0.001;0.0	T	0.16748	-1.0392	10	0.29301	T	0.29	.	3.7751	0.08657	0.1314:0.0:0.629:0.2396	.	642;672	Q9HCC9-2;Q9HCC9	.;LST2_HUMAN	L	672;642;602	ENSP00000290974:S672L;ENSP00000425706:S642L;ENSP00000426299:S602L	ENSP00000290974:S672L	S	-	2	0	ZFYVE28	2275850	0.000000	0.05858	0.000000	0.03702	0.087000	0.18053	0.378000	0.20569	0.359000	0.24239	0.306000	0.20318	TCG		0.667	ZFYVE28-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000360078.1	XM_035371		125	100	0	0	0	0.870114	0	125	100					A	2306052	G	A	2306052	3	1	107	1	0	0	0	0	1	0	0	0	17667	1059	37	2	672	2	ZFYVE28	4	2306052	Missense_Mutation	SNP	G	TCGA-EJ-8469-01A-11D-2395-08		2306052	188848224	14	5828											
CFI	3426	broad.mit.edu	37	chr4	110662159	110662159	+	Frame_Shift_Del	DEL	C	C	-																															ctctggttttccacagttttCcccccaactcacaacacccc																								rs7437875	byFrequency	TCGA-EJ-8469-01A-11D-2395-08	TCGA-EJ-8469-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4f80437-b585-4146-b6e0-9e8e44fef3da	77d692db-a5c0-4d14-926a-d2f81943505a	g.chr4:110662159delC	ENST00000394634.2	-	13	1849	c.1642delG	c.(1642-1644)gaafs	p.E548fs	CFI_ENST00000512148.1_Frame_Shift_Del_p.E541fs|CFI_ENST00000394635.3_Frame_Shift_Del_p.E556fs	NM_000204.3	NP_000195	P05156	CFAI_HUMAN	complement factor I	548	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	metal ion binding (GO:0046872)|scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)			breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|skin(2)|stomach(1)	27		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000331)		CCACAGTTTTCCCCCCAACTC	0.463																																						ENST00000394634.2																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|skin(2)|stomach(1)	27						c.(1642-1644)aafs		complement factor I							206	217	214					4																	110662159		2203	4300	6503	SO:0001589	frameshift_variant	3426				complement activation, classical pathway|innate immune response|proteolysis	extracellular space|membrane	scavenger receptor activity|serine-type endopeptidase activity	g.chr4:110662159delC	J02770	CCDS34049.1	4q25	2014-09-17	2006-02-10	2006-02-10		ENSG00000205403	3.4.21.45	"Complement system"	5394	protein-coding gene	gene with protein product	"Konglutinogen-activating factor", "C3b-inactivator"	217030	"I factor (complement)"	IF		2956252	Standard	NM_000204		Approved	FI, C3b-INA, KAF	uc003hzr.4	P05156		ENST00000394634.2:c.1642delG	4.37:g.110662159delC	ENSP00000378130:p.Glu548fs					CFI_ENST00000512148.1_Frame_Shift_Del_p.E541fs|CFI_ENST00000394635.3_Frame_Shift_Del_p.E556fs	p.E548fs	NM_000204.3	NP_000195.2	P05156	CFAI_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000331)	13	1849	-		Hepatocellular(203;0.217)	548			Peptidase S1.		O60442	Frame_Shift_Del	DEL	ENST00000394634.2	37	c.1642delG	CCDS34049.1																																																																																				0.463	CFI-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		NM_000204		7	746						7	746	---	---	---	---	-	110662159	C	-	110662159	7	5	107	1	0	1	0	1	0	0	0	0	3289	864	30	0	113	0	CFI	4	110662159	Frame_Shift_Del	DEL	C	TCGA-EJ-8469-01A-11D-2395-08	108356107	110662159	80492117	15	5829											
SV2C	22987	broad.mit.edu	37	chr5	75490817	75490817	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gcagacaaagtgggaaggaaAcagtctcttctgatttgcat	13	10	11	7	0	2	2	0	1	2	1	3	4	2	4	0	2	2	2	0	2	3	2			TCGA-EJ-8469-01A-11D-2395-08	TCGA-EJ-8469-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4f80437-b585-4146-b6e0-9e8e44fef3da	77d692db-a5c0-4d14-926a-d2f81943505a	g.chr5:75490817A>G	ENST00000502798.2	+	3	1096	c.654A>G	c.(652-654)aaA>aaG	p.K218K	SV2C_ENST00000322285.7_Silent_p.K218K	NM_014979.1	NP_055794.1	Q496J9	SV2C_HUMAN	synaptic vesicle glycoprotein 2C	218					neurotransmitter transport (GO:0006836)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|synaptic vesicle (GO:0008021)	transmembrane transporter activity (GO:0022857)			NS(1)|breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		all_lung(232;0.007)|Lung NSC(167;0.0148)|Ovarian(174;0.0798)|Prostate(461;0.184)		OV - Ovarian serous cystadenocarcinoma(47;1.16e-50)|all cancers(79;7.25e-40)		TGGGAAGGAAACAGTCTCTTC	0.468																																						ENST00000502798.2																			0				NS(1)|breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						c.(652-654)aaA>aaG		synaptic vesicle glycoprotein 2C							360	356	357					5																	75490817		1992	4147	6139	SO:0001819	synonymous_variant	22987				neurotransmitter transport	cell junction|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity	g.chr5:75490817A>G	AB028977	CCDS43331.1, CCDS75261.1	5q13	2008-02-05			ENSG00000122012	ENSG00000122012			30670	protein-coding gene	gene with protein product		610291				10470851, 9801366	Standard	XM_005248470		Approved		uc003kei.1	Q496J9	OTTHUMG00000162384	ENST00000502798.2:c.654A>G	5.37:g.75490817A>G						SV2C_ENST00000322285.7_Silent_p.K218K	p.K218K	NM_014979.1	NP_055794.1	Q496J9	SV2C_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;1.16e-50)|all cancers(79;7.25e-40)	3	1096	+		all_lung(232;0.007)|Lung NSC(167;0.0148)|Ovarian(174;0.0798)|Prostate(461;0.184)	218					Q496K1|Q9UPU8	Silent	SNP	ENST00000502798.2	37	c.654A>G	CCDS43331.1																																																																																				0.468	SV2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368700.4			149	249	0	0	0	0.870114	0	149	249					G	75490817	A	G	75490817	2	3	107	1	0	0	0	0	0	0	0	1	15416	40	2	4		4	SV2C	5	75490817	Silent	SNP	A	TCGA-EJ-8469-01A-11D-2395-08		75490817	105424443	16	5830											
PCDHA9	9752	broad.mit.edu	37	chr5	140229647	140229647	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aggtgtacgcgctgcagccgTtggaccacgaggagctggag	8	6	17	10	4	0	0	0	0	0	0	0	4	0	3	2	4	4	5	2	4	1	2			TCGA-EJ-8469-01A-11D-2395-08	TCGA-EJ-8469-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4f80437-b585-4146-b6e0-9e8e44fef3da	77d692db-a5c0-4d14-926a-d2f81943505a	g.chr5:140229647T>C	ENST00000532602.1	+	1	2600	c.1567T>C	c.(1567-1569)Ttg>Ctg	p.L523L	PCDHA8_ENST00000531613.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA9_ENST00000378122.3_Silent_p.L523L|PCDHA5_ENST00000529619.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000527624.1_Intron	NM_031857.1	NP_114063.1	Q9Y5H5	PCDA9_HUMAN	protocadherin alpha 9	523	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	59			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCTGCAGCCGTTGGACCACGA	0.682																																					Melanoma(55;1800 1972 14909)	ENST00000378122.3																			0				breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	59						c.(1567-1569)Ttg>Ctg									59	68	65					5																	140229647		2181	4256	6437	SO:0001819	synonymous_variant	0							g.chr5:140229647T>C	AF152487	CCDS54920.1	5q31	2010-11-26				ENSG00000204961		"Cadherins / Protocadherins : Clustered"	8675	other	complex locus constituent	"KIAA0345-like 5"	606315				10380929	Standard	NM_031857		Approved	KIAA0345, PCDH-ALPHA9		Q9Y5H5		ENST00000532602.1:c.1567T>C	5.37:g.140229647T>C						PCDHA1_ENST00000394633.3_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA9_ENST00000532602.1_Silent_p.L523L|PCDHA1_ENST00000504120.2_Intron	p.L523L	NM_014005.3	NP_054724.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2291	+								O15053|Q2M3S5	Silent	SNP	ENST00000532602.1	37	c.1567T>C	CCDS54920.1																																																																																				0.682	PCDHA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372896.2	NM_031857		7	365	0	0	0	0.38729	0	7	365					C	140229647	T	C	140229647	2	2	107	1	0	0	0	0	0	0	0	1	11531	1722	60	4		4	PCDHA9	5	140229647	Silent	SNP	T	TCGA-EJ-8469-01A-11D-2395-08	64738830	140229647	40685613	17	5831											
PCDHGC5	56097	broad.mit.edu	37	chr5	140869501	140869501	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccacccttatctctgtcatcGtgctggacatcaatgataat	10	13	6	12	1	3	1	2	1	1	0	5	2	3	2	2	1	1	1	2	1	3	2			TCGA-EJ-8469-01A-11D-2395-08	TCGA-EJ-8469-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4f80437-b585-4146-b6e0-9e8e44fef3da	77d692db-a5c0-4d14-926a-d2f81943505a	g.chr5:140869501G>A	ENST00000252087.1	+	1	694	c.694G>A	c.(694-696)Gtg>Atg	p.V232M	PCDHGA11_ENST00000518882.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGC4_ENST00000306593.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGC3_ENST00000308177.3_Intron	NM_018929.2|NM_032403.2|NM_032407.1	NP_061752.1|NP_115779.1|NP_115783.1	Q9Y5F6	PCDGM_HUMAN	protocadherin gamma subfamily C, 5	232	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTCTGTCATCGTGCTGGACAT	0.557																																						ENST00000252087.1																			0				breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35						c.(694-696)Gtg>Atg									131	134	133					5																	140869501		2203	4300	6503	SO:0001583	missense	0				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140869501G>A	AF152526	CCDS4263.1, CCDS75350.1	5q31	2010-01-26			ENSG00000240764	ENSG00000240764		"Cadherins / Protocadherins : Clustered"	8718	other	protocadherin		606306				10380929	Standard	NM_018929		Approved	PCDH-GAMMA-C5	uc003lla.2	Q9Y5F6	OTTHUMG00000129624	ENST00000252087.1:c.694G>A	5.37:g.140869501G>A	ENSP00000252087:p.Val232Met					PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGC3_ENST00000308177.3_Intron|PCDHGC4_ENST00000306593.1_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA6_ENST00000517434.1_Intron	p.V232M	NM_018929.2|NM_032403.2|NM_032407.1	NP_061752.1|NP_115779.1|NP_115783.1	Q9Y5F6	PCDGM_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	694	+			232			Cadherin 2.		Q9Y5C2	Missense_Mutation	SNP	ENST00000252087.1	37	c.694G>A	CCDS4263.1	.	.	.	.	.	.	.	.	.	.	G	11.06	1.528593	0.27299	.	.	ENSG00000240764	ENST00000252087	T	0.68181	-0.31	5.99	5.99	0.97316	Cadherin (4);Cadherin conserved site (1);Cadherin-like (1);	0.000000	0.50627	D	0.000120	D	0.90827	0.7119	H	0.99590	4.645	0.43703	D	0.996169	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.94142	0.7398	10	0.87932	D	0	.	20.0678	0.97707	0.0:0.0:1.0:0.0	.	232;232	Q9Y5F6-2;Q9Y5F6	.;PCDGM_HUMAN	M	232	ENSP00000252087:V232M	ENSP00000252087:V232M	V	+	1	0	PCDHGC5	140849685	1.000000	0.71417	0.969000	0.41365	0.009000	0.06853	3.561000	0.53770	2.843000	0.97960	0.591000	0.81541	GTG		0.557	PCDHGC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251819.1	NM_018929		102	154	0	0	0	0.870114	0	102	154					A	140869501	G	A	140869501	3	1	107	1	0	0	0	0	1	0	0	0	11571	1145	40	1	696	1	PCDHGC5	5	140869501	Missense_Mutation	SNP	G	TCGA-EJ-8469-01A-11D-2395-08	639854	140869501	40045759	18	5832											
PROP1	5626	broad.mit.edu	37	chr5	177419761	177419761	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agggggagcatgggagggggTggggggcagggcagatggcc	7	3	26	5	0	0	1	0	0	0	1	0	3	0	3	1	10	1	3	1	10	0	0	rs535993919	byFrequency	TCGA-EJ-8469-01A-11D-2395-08	TCGA-EJ-8469-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4f80437-b585-4146-b6e0-9e8e44fef3da	77d692db-a5c0-4d14-926a-d2f81943505a	g.chr5:177419761T>G	ENST00000308304.2	-	3	938	c.630A>C	c.(628-630)ccA>ccC	p.P210P		NM_006261.4	NP_006252	O75360	PROP1_HUMAN	PROP paired-like homeobox 1	210					blood vessel development (GO:0001568)|canonical Wnt signaling pathway (GO:0060070)|cell migration (GO:0016477)|central nervous system development (GO:0007417)|dorsal/ventral pattern formation (GO:0009953)|hypophysis morphogenesis (GO:0048850)|hypothalamus cell differentiation (GO:0021979)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|somatotropin secreting cell differentiation (GO:0060126)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|sequence-specific DNA binding (GO:0043565)			endometrium(1)|large_intestine(2)|lung(9)|stomach(1)	13	all_cancers(89;0.00176)|Renal(175;0.000269)|Lung NSC(126;0.00858)|all_lung(126;0.0139)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TGGGAGGGGGTGGGGGGCAGG	0.637													T|||	79	0.0157748	0.0197	0.0086	5008	,	,		10279	0.0139		0.007	False		,,,				2504	0.0266					ENST00000308304.2																			0				endometrium(1)|large_intestine(2)|lung(9)|stomach(1)	13						c.(628-630)ccA>ccC		PROP paired-like homeobox 1																																				SO:0001819	synonymous_variant	5626				central nervous system development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr5:177419761T>G	AF076215	CCDS4430.1	5q35.3	2011-06-20	2007-07-12		ENSG00000175325	ENSG00000175325		"Homeoboxes / PRD class"	9455	protein-coding gene	gene with protein product		601538	"prophet of Pit1, paired-like homeodomain transcription factor"			9462743	Standard	NM_006261		Approved		uc003mif.1	O75360	OTTHUMG00000130887	ENST00000308304.2:c.630A>C	5.37:g.177419761T>G							p.P210P	NM_006261.4	NP_006252.3	O75360	PROP1_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		3	938	-	all_cancers(89;0.00176)|Renal(175;0.000269)|Lung NSC(126;0.00858)|all_lung(126;0.0139)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	210						Silent	SNP	ENST00000308304.2	37	c.630A>C	CCDS4430.1																																																																																				0.637	PROP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253472.1	NM_006261		5	15	0	0	0	0.479597	0	5	15					G	177419761	T	G	177419761	2	3	107	1	0	0	0	0	0	0	0	1	12557	1683	59	5		5	PROP1	5	177419761	Silent	SNP	T	TCGA-EJ-8469-01A-11D-2395-08	36550260	177419761	3495499	19	5833											
DSE	29940	broad.mit.edu	37	chr6	116757925	116757925	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcagatactgtcccgagtccGgaacacagctagctttagga	11	8	11	11	2	0	1	0	0	0	1	2	4	2	3	2	2	4	3	2	2	4	4			TCGA-EJ-8469-01A-11D-2395-08	TCGA-EJ-8469-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4f80437-b585-4146-b6e0-9e8e44fef3da	77d692db-a5c0-4d14-926a-d2f81943505a	g.chr6:116757925G>A	ENST00000331677.3	+	7	2738	c.2294G>A	c.(2293-2295)cGg>cAg	p.R765Q	DSE_ENST00000359564.2_Missense_Mutation_p.R765Q|DSE_ENST00000452085.3_Missense_Mutation_p.R765Q|DSE_ENST00000537543.1_Missense_Mutation_p.R784Q			Q9UL01	DSE_HUMAN	dermatan sulfate epimerase	765					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	chondroitin-glucuronate 5-epimerase activity (GO:0047757)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35		all_cancers(87;0.00019)|all_epithelial(87;0.000416)|Ovarian(999;0.133)|Colorectal(196;0.234)		Epithelial(106;0.00915)|OV - Ovarian serous cystadenocarcinoma(136;0.0149)|GBM - Glioblastoma multiforme(226;0.0189)|all cancers(137;0.0262)		TCCCGAGTCCGGAACACAGCT	0.478																																						ENST00000331677.3																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35						c.(2293-2295)cGg>cAg		dermatan sulfate epimerase							76	79	78					6																	116757925		2203	4300	6503	SO:0001583	missense	29940				dermatan sulfate biosynthetic process	endoplasmic reticulum|Golgi apparatus|integral to membrane	chondroitin-glucuronate 5-epimerase activity	g.chr6:116757925G>A	AF098066	CCDS5107.1	6q22	2008-02-05	2007-01-29	2007-01-29	ENSG00000111817	ENSG00000111817	5.1.3.19		21144	protein-coding gene	gene with protein product		605942	"squamous cell carcinoma antigen recognized by T cells 2"	SART2		11920522, 16505484	Standard	NM_001080976		Approved	DSEPI	uc003pws.3	Q9UL01	OTTHUMG00000015434	ENST00000331677.3:c.2294G>A	6.37:g.116757925G>A	ENSP00000332151:p.Arg765Gln					DSE_ENST00000537543.1_Missense_Mutation_p.R784Q|DSE_ENST00000359564.2_Missense_Mutation_p.R765Q|DSE_ENST00000452085.3_Missense_Mutation_p.R765Q	p.R765Q			Q9UL01	DSE_HUMAN		Epithelial(106;0.00915)|OV - Ovarian serous cystadenocarcinoma(136;0.0149)|GBM - Glioblastoma multiforme(226;0.0189)|all cancers(137;0.0262)	7	2738	+		all_cancers(87;0.00019)|all_epithelial(87;0.000416)|Ovarian(999;0.133)|Colorectal(196;0.234)	765					Q5R3K6	Missense_Mutation	SNP	ENST00000331677.3	37	c.2294G>A	CCDS5107.1	.	.	.	.	.	.	.	.	.	.	G	10.37	1.330751	0.24167	.	.	ENSG00000111817	ENST00000452085;ENST00000537543;ENST00000331677;ENST00000359564	T;T;T;T	0.61627	0.09;0.09;0.09;0.09	6.16	2.41	0.29592	.	0.333539	0.34245	N	0.004134	T	0.18509	0.0444	N	0.16478	0.41	0.31324	N	0.685635	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.08432	-1.0722	10	0.36615	T	0.2	-8.2513	8.7165	0.34414	0.349:0.0:0.651:0.0	.	784;765	B7Z765;Q9UL01	.;DSE_HUMAN	Q	765;784;765;765	ENSP00000404049:R765Q;ENSP00000441152:R784Q;ENSP00000332151:R765Q;ENSP00000352567:R765Q	ENSP00000332151:R765Q	R	+	2	0	DSE	116864618	0.750000	0.28316	0.996000	0.52242	0.992000	0.81027	0.869000	0.27996	0.465000	0.27167	0.650000	0.86243	CGG		0.478	DSE-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041940.2	NM_013352		7	173	0	0	0	0.307466	0	7	173					A	116757925	G	A	116757925	3	1	107	1	0	0	0	0	1	0	0	0	4774	1116	39	2	2312	2	DSE	6	116757925	Missense_Mutation	SNP	G	TCGA-EJ-8469-01A-11D-2395-08		116757925	54357142	20	5834											
TMEM184A	202915	broad.mit.edu	37	chr7	1586662	1586663	+	In_Frame_Ins	INS	-	-	GCC																															ctcccgccggagccgccgctINSggggtgggtgccgggcctgg																								rs3837151|rs3779607	byFrequency	TCGA-EJ-8469-01A-11D-2395-08	TCGA-EJ-8469-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4f80437-b585-4146-b6e0-9e8e44fef3da	77d692db-a5c0-4d14-926a-d2f81943505a	g.chr7:1586662_1586663insGCC	ENST00000297477.5	-	9	1483_1484	c.1167_1168insGGC	c.(1165-1170)cccagc>cccGGCagc	p.389_390PS>PGS	TMEM184A_ENST00000449955.1_5'Flank	NM_001097620.1	NP_001091089.1	Q6ZMB5	T184A_HUMAN	transmembrane protein 184A	389			S -> G (in dbSNP:rs3779607). {ECO:0000269|PubMed:15489334}.		germ-line sex determination (GO:0018992)|regulation of protein localization (GO:0032880)|regulation of secretion (GO:0051046)	early endosome membrane (GO:0031901)|integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	12		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;5.88e-15)		GAGCCGCCGCTGGGGTGGGTGC	0.703																																						ENST00000297477.5																			0				endometrium(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	12						c.(1165-1170)ccgcgg>ccGGCgcgg		transmembrane protein 184A				1912,2170		535,842,664						-3.6	0		dbSNP_132	17	3872,4214		1028,1816,1199	no	coding	TMEM184A	NM_001097620.1		1563,2658,1863	A1A1,A1R,RR		47.8852,46.8398,47.5345				5784,6384				SO:0001652	inframe_insertion	202915					integral to membrane		g.chr7:1586662_1586663insGCC		CCDS43537.1	7p22.3	2008-05-02			ENSG00000164855	ENSG00000164855			28797	protein-coding gene	gene with protein product						12477932	Standard	NM_001097620		Approved	MGC9712	uc003skv.4	Q6ZMB5	OTTHUMG00000119025	ENST00000297477.5:c.1167_1168insGGC	7.37:g.1586662_1586663insGCC	ENSP00000297477:p.Pro389_Ser390insGly						p.389_390PR>PAR	NM_001097620.1	NP_001091089.1	Q6ZMB5	T184A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;5.88e-15)	9	1483_1484	-		Ovarian(82;0.0253)	389					Q8TBQ6	In_Frame_Ins	INS	ENST00000297477.5	37	c.1167_1168insGGC	CCDS43537.1																																																																																				0.703	TMEM184A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239229.4	NM_152689		21	46						21	46	---	---	---	---	GCC	1586663	-	GCC	1586662	7	5	107	1	0	1	1	0	0	0	0	0	16101	1580	55	0	77	0	TMEM184A	7	1586662	In_Frame_Ins	INS	-	TCGA-EJ-8469-01A-11D-2395-08		1586662	157552001	21	5835											
MUC17	140453	broad.mit.edu	37	chr7	100678305	100678305	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agccagttcacctcctccaaCtgctgaagttaccagcatgc	10	9	7	15	0	1	1	1	1	0	0	3	1	3	1	5	0	6	4	5	0	3	2			TCGA-EJ-8469-01A-11D-2395-08	TCGA-EJ-8469-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4f80437-b585-4146-b6e0-9e8e44fef3da	77d692db-a5c0-4d14-926a-d2f81943505a	g.chr7:100678305C>T	ENST00000306151.4	+	3	3672	c.3608C>T	c.(3607-3609)aCt>aTt	p.T1203I		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1203	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CCTCCTCCAACTGCTGAAGTT	0.517																																						ENST00000306151.4																			0				NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343						c.(3607-3609)aCt>aTt		mucin 17, cell surface associated							304	272	283					7																	100678305		2203	4300	6503	SO:0001583	missense	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100678305C>T	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"Mucins"	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.3608C>T	7.37:g.100678305C>T	ENSP00000302716:p.Thr1203Ile						p.T1203I	NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN			3	3672	+	Lung NSC(181;0.136)|all_lung(186;0.182)		1203			59 X approximate tandem repeats.|Ser-rich.		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	c.3608C>T	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	C	0.704	-0.789748	0.02884	.	.	ENSG00000169876	ENST00000306151	T	0.02421	4.3	0.838	0.838	0.18902	.	.	.	.	.	T	0.02047	0.0064	N	0.24115	0.695	0.09310	N	1	D	0.54964	0.969	B	0.41236	0.351	T	0.50457	-0.8826	9	0.33940	T	0.23	.	4.8315	0.13443	0.0:0.6008:0.3992:0.0	.	1203	Q685J3	MUC17_HUMAN	I	1203	ENSP00000302716:T1203I	ENSP00000302716:T1203I	T	+	2	0	MUC17	100465025	0.001000	0.12720	0.001000	0.08648	0.014000	0.08584	0.704000	0.25661	0.790000	0.33803	0.134000	0.15878	ACT		0.517	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		19	626	0	0	0	0.575678	0	19	626					T	100678305	C	T	100678305	3	4	107	1	0	0	0	0	1	0	0	0	9974	565	20	3	3618	3	MUC17	7	100678305	Missense_Mutation	SNP	C	TCGA-EJ-8469-01A-11D-2395-08	99091643	100678305	58460358	22	5836											
SOX7	83595	broad.mit.edu	37	chr8	10584117	10584117	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	catgtgctgcaggcgcagccGctccgcctcgtccacgtacg	5	7	12	17	6	0	0	0	0	0	0	3	0	2	0	4	1	4	5	4	1	1	1			TCGA-EJ-8469-01A-11D-2395-08	TCGA-EJ-8469-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4f80437-b585-4146-b6e0-9e8e44fef3da	77d692db-a5c0-4d14-926a-d2f81943505a	g.chr8:10584117G>A	ENST00000304501.1	-	2	376	c.298C>T	c.(298-300)Cgg>Tgg	p.R100W	SOX7_ENST00000553390.1_Missense_Mutation_p.R152W|SOX7_ENST00000554914.1_Missense_Mutation_p.R152W|CTD-2135J3.3_ENST00000506149.2_RNA|CTD-2135J3.3_ENST00000519568.1_RNA	NM_031439.2	NP_113627.1	Q9BT81	SOX7_HUMAN	SRY (sex determining region Y)-box 7	100					endoderm formation (GO:0001706)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|regulation of canonical Wnt signaling pathway (GO:0060828)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20				COAD - Colon adenocarcinoma(149;0.0732)		AGGCGCAGCCGCTCCGCCTCG	0.647																																						ENST00000304501.1																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20						c.(298-300)Cgg>Tgg		SRY (sex determining region Y)-box 7							46	49	48					8																	10584117		2203	4300	6503	SO:0001583	missense	83595				endoderm formation|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|positive regulation of caspase activity|regulation of canonical Wnt receptor signaling pathway	cytoplasm|nucleus	transcription regulatory region DNA binding	g.chr8:10584117G>A	AJ409320	CCDS5977.1	8p22	2013-01-25			ENSG00000171056	ENSG00000171056		"SRY (sex determining region Y)-boxes"	18196	protein-coding gene	gene with protein product		612202				11691915	Standard	NM_031439		Approved		uc003wtf.3	Q9BT81	OTTHUMG00000090585	ENST00000304501.1:c.298C>T	8.37:g.10584117G>A	ENSP00000301921:p.Arg100Trp					SOX7_ENST00000553390.1_Missense_Mutation_p.R152W|SOX7_ENST00000554914.1_Missense_Mutation_p.R152W	p.R100W	NM_031439.2	NP_113627.1	Q9BT81	SOX7_HUMAN		COAD - Colon adenocarcinoma(149;0.0732)	2	376	-			100					B4DKV0|Q53YD0	Missense_Mutation	SNP	ENST00000304501.1	37	c.298C>T	CCDS5977.1	.	.	.	.	.	.	.	.	.	.	G	19.23	3.787108	0.70337	.	.	ENSG00000171056;ENSG00000171056;ENSG00000258724	ENST00000304501;ENST00000553390;ENST00000554914	D;D;D	0.98120	-4.73;-4.73;-4.73	4.85	3.9	0.45041	High mobility group, superfamily (1);High mobility group, HMG1/HMG2 (4);	0.000000	0.85682	D	0.000000	D	0.98931	0.9637	H	0.94423	3.535	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.98662	1.0684	10	0.87932	D	0	.	12.6608	0.56813	0.0:0.0:0.7551:0.2449	.	152;100	B4DKV0;Q9BT81	.;SOX7_HUMAN	W	100;152;152	ENSP00000301921:R100W;ENSP00000452017:R152W;ENSP00000451145:R152W	ENSP00000346908:R152W	R	-	1	2	SOX7;CTD-2135J3.4	10621527	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	1.075000	0.30716	2.518000	0.84900	0.561000	0.74099	CGG		0.647	SOX7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207131.1			50	21	0	0	0	0.870114	0	50	21					A	10584117	G	A	10584117	3	1	107	1	0	0	0	0	1	0	0	0	14956	1086	38	1	872	1	SOX7	8	10584117	Missense_Mutation	SNP	G	TCGA-EJ-8469-01A-11D-2395-08		10584117	135779905	23	5837											
ENPP2	5168	broad.mit.edu	37	chr8	120608106	120608106	+	Intron	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctttgtcctgacgagtttccGcagcataatgatccatccta	9	13	7	12	2	0	2	0	2	0	0	4	3	4	2	4	0	1	3	4	0	2	4	rs142695308	byFrequency	TCGA-EJ-8469-01A-11D-2395-08	TCGA-EJ-8469-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4f80437-b585-4146-b6e0-9e8e44fef3da	77d692db-a5c0-4d14-926a-d2f81943505a	g.chr8:120608106G>A	ENST00000075322.6	-	12	1031				ENPP2_ENST00000259486.6_Missense_Mutation_p.A370V|ENPP2_ENST00000522167.1_5'Flank|ENPP2_ENST00000522826.1_Intron|ENPP2_ENST00000427067.2_Intron	NM_001040092.2	NP_001035181.1	Q13822	ENPP2_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 2						cellular component movement (GO:0006928)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylcholine catabolic process (GO:0034638)|phospholipid catabolic process (GO:0009395)|regulation of cell migration (GO:0030334)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	alkylglycerophosphoethanolamine phosphodiesterase activity (GO:0047391)|calcium ion binding (GO:0005509)|hydrolase activity (GO:0016787)|lysophospholipase activity (GO:0004622)|nucleic acid binding (GO:0003676)|nucleotide diphosphatase activity (GO:0004551)|phosphodiesterase I activity (GO:0004528)|polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.A370V(1)		breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(30)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)	69	Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			ACGAGTTTCCGCAGCATAATG	0.443													G|||	10	0.00199681	0	0.0144	5008	,	,		19590	0		0	False		,,,				2504	0				Melanoma(20;305 879 2501 4818 31020)	ENST00000259486.6																			1	Substitution - Missense(1)	p.A370V(1)	large_intestine(1)	breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(30)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)	69						c.(1108-1110)gCg>gTg		ectonucleotide pyrophosphatase/phosphodiesterase 2		G	,,VAL/ALA	1,4405	2.1+/-5.4	0,1,2202	150	150	150		,,1109	5.2	1	8	dbSNP_134	150	0,8600		0,0,4300	yes	intron,intron,missense	ENPP2	NM_001040092.1,NM_001130863.1,NM_006209.3	,,64	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,,benign	,,370/916	120608106	1,13005	2203	4300	6503	SO:0001627	intron_variant	0				cellular component movement|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|phosphate metabolic process|phosphatidylcholine catabolic process|regulation of cell migration	extracellular space|integral to plasma membrane	alkylglycerophosphoethanolamine phosphodiesterase activity|calcium ion binding|lysophospholipase activity|nucleic acid binding|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity|transcription factor binding|zinc ion binding	g.chr8:120608106G>A	D45421	CCDS6329.1, CCDS34936.1, CCDS47914.1	8q24.12	2014-04-09	2008-08-01		ENSG00000136960	ENSG00000136960	3.1.4.1, 3.6.1.9		3357	protein-coding gene	gene with protein product	"autotaxin"	601060		PDNP2		8586446	Standard	NM_001040092		Approved	ATX, PD-IALPHA	uc003yos.2	Q13822	OTTHUMG00000164995	ENST00000075322.6:c.973-2006C>T	8.37:g.120608106G>A						ENPP2_ENST00000427067.2_Intron|ENPP2_ENST00000075322.6_Intron|ENPP2_ENST00000522826.1_Intron	p.A370V	NM_006209.4	NP_006200.3	Q13822	ENPP2_HUMAN	STAD - Stomach adenocarcinoma(47;0.00185)		12	1158	-	Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		324					A8UHA1|E9PHP7|Q13827|Q14555|Q15117|Q9UCQ8|Q9UCR0|Q9UCR1|Q9UCR2|Q9UCR3|Q9UCR4	Missense_Mutation	SNP	ENST00000075322.6	37	c.1109C>T	CCDS34936.1	5	0.0022893772893772895	0	0.0	5	0.013812154696132596	0	0.0	0	0.0	G	15.06	2.719777	0.48728	2.27E-4	0.0	ENSG00000136960	ENST00000259486	T	0.71461	-0.57	6.07	5.15	0.70609	.	0.187300	0.26304	N	0.025141	T	0.47893	0.1470	.	.	.	0.80722	D	1	B	0.10296	0.003	B	0.06405	0.002	T	0.46762	-0.9168	9	0.17832	T	0.49	.	12.505	0.55975	0.0829:0.0:0.9171:0.0	.	370	Q13822-2	.	V	370	ENSP00000259486:A370V	ENSP00000259486:A370V	A	-	2	0	ENPP2	120677287	1.000000	0.71417	1.000000	0.80357	0.671000	0.39405	2.626000	0.46460	1.443000	0.47586	0.655000	0.94253	GCG		0.443	ENPP2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000381390.1			19	540	0	0	0	0.639603	0	19	540					A	120608106	G	A	120608106	1	1	107	0	1	0	0	0	0	0	0	0	5130	1087	38	1		1	ENPP2	8	120608106	Intron	SNP	G	TCGA-EJ-8469-01A-11D-2395-08	110023989	120608106	25755916	24	5838											
ZFAT	57623	broad.mit.edu	37	chr8	135614479	135614479	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggaggcagaagctctggtTgatggaactggtgaagacca	12	7	15	7	0	1	4	0	2	1	2	1	6	1	6	1	5	2	3	1	5	3	1			TCGA-EJ-8469-01A-11D-2395-08	TCGA-EJ-8469-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4f80437-b585-4146-b6e0-9e8e44fef3da	77d692db-a5c0-4d14-926a-d2f81943505a	g.chr8:135614479T>C	ENST00000377838.3	-	6	1657	c.1483A>G	c.(1483-1485)Aac>Gac	p.N495D	ZFAT_ENST00000520727.1_Missense_Mutation_p.N483D|ZFAT-AS1_ENST00000505776.1_RNA|ZFAT_ENST00000520214.1_Missense_Mutation_p.N483D|ZFAT_ENST00000520356.1_Missense_Mutation_p.N483D|ZFAT_ENST00000429442.2_Missense_Mutation_p.N483D|ZFAT_ENST00000523399.1_Missense_Mutation_p.N433D	NM_001174157.1|NM_020863.3	NP_001167628.1|NP_065914.2	Q9P243	ZFAT_HUMAN	zinc finger and AT hook domain containing	495					hematopoietic progenitor cell differentiation (GO:0002244)|spongiotrophoblast layer development (GO:0060712)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(9)|large_intestine(8)|lung(16)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0432)			AAGCTCTGGTTGATGGAACTG	0.607																																						ENST00000520727.1																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(9)|large_intestine(8)|lung(16)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	54						c.(1447-1449)Aac>Gac		zinc finger and AT hook domain containing							29	31	30					8																	135614479		1995	4163	6158	SO:0001583	missense	57623				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	DNA binding|zinc ion binding	g.chr8:135614479T>C	BC025423	CCDS43768.1, CCDS47924.1, CCDS43768.2, CCDS55275.1, CCDS55276.1	8q24.23	2008-06-05	2008-01-25	2008-01-25	ENSG00000066827	ENSG00000066827		"Zinc fingers, C2H2-type"	19899	protein-coding gene	gene with protein product		610931	"zinc finger protein 406"	ZNF406, ZFAT1		10819331, 18329245	Standard	NM_020863		Approved	KIAA1485	uc003yup.3	Q9P243	OTTHUMG00000164321	ENST00000377838.3:c.1483A>G	8.37:g.135614479T>C	ENSP00000367069:p.Asn495Asp					ZFAT_ENST00000520214.1_Missense_Mutation_p.N483D|ZFAT_ENST00000523399.1_Missense_Mutation_p.N433D|ZFAT_ENST00000429442.2_Missense_Mutation_p.N483D|ZFAT_ENST00000520356.1_Missense_Mutation_p.N483D|ZFAT_ENST00000377838.3_Missense_Mutation_p.N495D	p.N483D	NM_001029939.3	NP_001025110.2	Q9P243	ZFAT_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0432)		7	1746	-	all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155)		495					B7ZL15|E9PER3|Q3MIM5|Q6PJ01|Q75PJ6|Q75PJ7|Q75PJ9|Q86X64	Missense_Mutation	SNP	ENST00000377838.3	37	c.1447A>G	CCDS47924.1	.	.	.	.	.	.	.	.	.	.	T	19.43	3.825458	0.71143	.	.	ENSG00000066827	ENST00000520356;ENST00000520727;ENST00000429442;ENST00000377838;ENST00000520214;ENST00000523399;ENST00000398946	T;T;T;T;T;T	0.08193	3.12;3.12;3.12;3.12;3.12;3.12	6.04	4.9	0.64082	.	0.051299	0.85682	D	0.000000	T	0.05914	0.0154	L	0.32530	0.975	0.41139	D	0.985944	P;P;B;B	0.40360	0.714;0.533;0.202;0.076	B;B;B;B	0.30251	0.113;0.094;0.097;0.021	T	0.39231	-0.9624	10	0.39692	T	0.17	-48.3966	10.9172	0.47144	0.0:0.0723:0.0:0.9277	.	433;483;483;495	E9PER3;E9PBN4;Q9P243-3;Q9P243	.;.;.;ZFAT_HUMAN	D	483;483;483;495;483;433;483	ENSP00000427879:N483D;ENSP00000427831:N483D;ENSP00000394501:N483D;ENSP00000367069:N495D;ENSP00000428483:N483D;ENSP00000429091:N433D	ENSP00000367069:N495D	N	-	1	0	ZFAT	135683661	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.157000	0.64911	2.317000	0.78254	0.460000	0.39030	AAC		0.607	ZFAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378272.1	NM_001029939		4	118	0	0	0	0.150653	0	4	118					C	135614479	T	C	135614479	3	2	107	1	0	0	0	0	1	0	0	0	17629	1812	63	4	2292	4	ZFAT	8	135614479	Missense_Mutation	SNP	T	TCGA-EJ-8469-01A-11D-2395-08	15006373	135614479	10749543	25	5839											
TOP1MT	116447	broad.mit.edu	37	chr8	144398199	144398199	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agattctgcatcgacttctcGaacgtactgggggttgctcg	7	12	12	10	4	2	1	0	0	2	1	5	3	2	1	0	2	4	4	0	2	2	4	rs372788685		TCGA-EJ-8469-01A-11D-2395-08	TCGA-EJ-8469-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4f80437-b585-4146-b6e0-9e8e44fef3da	77d692db-a5c0-4d14-926a-d2f81943505a	g.chr8:144398199G>A	ENST00000329245.4	-	11	1462	c.1428C>T	c.(1426-1428)ttC>ttT	p.F476F	AC087793.1_ENST00000585120.1_RNA|TOP1MT_ENST00000521193.1_Silent_p.F378F|TOP1MT_ENST00000523676.1_Silent_p.F378F|TOP1MT_ENST00000519148.1_Silent_p.F378F	NM_052963.2	NP_443195.1	Q969P6	TOP1M_HUMAN	topoisomerase (DNA) I, mitochondrial	476					DNA replication (GO:0006260)|DNA topological change (GO:0006265)	chromosome (GO:0005694)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA topoisomerase type I activity (GO:0003917)|DNA topoisomerase type II (ATP-hydrolyzing) activity (GO:0003918)			endometrium(5)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	23	all_cancers(97;1.01e-10)|all_epithelial(106;4.86e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173)		Irinotecan(DB00762)|Topotecan(DB01030)	TCGACTTCTCGAACGTACTGG	0.607																																						ENST00000523676.1																			0				endometrium(5)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	23						c.(1132-1134)ttC>ttT		topoisomerase (DNA) I, mitochondrial	Irinotecan(DB00762)|Topotecan(DB01030)	A		0,4406		0,0,2203	170	157	161		1428	-6.5	0	8		161	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	TOP1MT	NM_052963.1		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		476/602	144398199	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	116447				DNA topological change	chromosome|mitochondrial nucleoid	ATP binding|chromatin DNA binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA topoisomerase type I activity	g.chr8:144398199G>A	AF349018	CCDS6400.1, CCDS59115.1	8q24.3	2006-04-12				ENSG00000184428			29787	protein-coding gene	gene with protein product		606387				11526219	Standard	NM_052963		Approved		uc003yxz.4	Q969P6		ENST00000329245.4:c.1428C>T	8.37:g.144398199G>A						TOP1MT_ENST00000521193.1_Silent_p.F378F|TOP1MT_ENST00000519148.1_Silent_p.F378F|TOP1MT_ENST00000329245.4_Silent_p.F476F	p.F378F			Q969P6	TOP1M_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173)		12	1539	-	all_cancers(97;1.01e-10)|all_epithelial(106;4.86e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		476					B7ZAR5|E7ES89|Q86ST4|Q86V82	Silent	SNP	ENST00000329245.4	37	c.1134C>T	CCDS6400.1																																																																																				0.607	TOP1MT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381247.3	NM_052963		7	380	0	0	0	0.27861	0	7	380					A	144398199	G	A	144398199	2	1	107	1	0	0	0	0	0	0	0	1	16361	1049	37	2		2	TOP1MT	8	144398199	Silent	SNP	G	TCGA-EJ-8469-01A-11D-2395-08	8783720	144398199	1965823	26	5840											
RECQL4	9684	broad.mit.edu	37	chr8	145741718	145741718	+	5'Flank	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agggctcctcgttccatctcCgcttctcgcctccactgctg	3	12	8	18	3	2	0	0	0	2	0	8	0	5	0	5	1	1	4	5	1	0	2			TCGA-EJ-8469-01A-11D-2395-08	TCGA-EJ-8469-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4f80437-b585-4146-b6e0-9e8e44fef3da	77d692db-a5c0-4d14-926a-d2f81943505a	g.chr8:145741718C>T	ENST00000292524.1	+	0	0				RECQL4_ENST00000428558.2_Missense_Mutation_p.R262Q|RECQL4_ENST00000532237.1_5'UTR|CTD-2517M22.17_ENST00000580385.1_RNA|LRRC14_ENST00000529022.1_5'Flank	NM_001272036.1|NM_014665.2	NP_001258965.1|NP_055480.1	Q15048	LRC14_HUMAN	leucine rich repeat containing 14											endometrium(1)|lung(3)|prostate(1)	5	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			GTTCCATCTCCGCTTCTCGCC	0.672																																						ENST00000428558.2										"N, F, S"						"osteosarcoma, skin basal and sqamous cell"			0				breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|lung(10)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	26						c.(784-786)cGg>cAg	Genes defective in diseases associated with sensitivity to DNA damaging agents	RecQ protein-like 4							19	22	21					8																	145741718		2005	4169	6174	SO:0001631	upstream_gene_variant	9401	Rothmund-Thomson syndrome;RAPADILINO syndrome;Baller-Gerold syndrome			DNA duplex unwinding|DNA recombination|DNA repair	cytoplasm|nucleus	ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|DNA strand annealing activity|zinc ion binding	g.chr8:145741718C>T	BC011377	CCDS6432.1	8q24.3	2012-08-20			ENSG00000160959	ENSG00000160959			20419	protein-coding gene	gene with protein product						7584026	Standard	NM_001272036		Approved	KIAA0014, LRRC14A	uc003zdk.3	Q15048	OTTHUMG00000165179		8.37:g.145741718C>T	Exception_encountered					RECQL4_ENST00000532237.1_5'UTR	p.R262Q	NM_004260.3	NP_004251.3	O94761	RECQ4_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)		5	826	-	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		262					A8K0A8|D3DWM8	Missense_Mutation	SNP	ENST00000292524.1	37	c.785G>A	CCDS6432.1																																																																																				0.672	LRRC14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382494.1	NM_014665		8	85	0	0	0	0.307466	0	8	85					T	145741718	C	T	145741718	1	4	107	0	1	0	0	0	0	0	0	0	13202	652	23	2		2	RECQL4	8	145741718	5'Flank	SNP	C	TCGA-EJ-8469-01A-11D-2395-08	1343519	145741718	622304	27	5841											
SPINK4	27290	broad.mit.edu	37	chr9	33246623	33246623	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctcttccacagcccatctgtGaacacatggtagagtctcca	10	10	7	14	0	3	2	0	1	3	1	5	2	4	2	3	1	2	1	3	1	2	2			TCGA-EJ-8469-01A-11D-2395-08	TCGA-EJ-8469-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4f80437-b585-4146-b6e0-9e8e44fef3da	77d692db-a5c0-4d14-926a-d2f81943505a	g.chr9:33246623G>A	ENST00000379721.3	+	3	157	c.112G>A	c.(112-114)Gaa>Aaa	p.E38K	SPINK4_ENST00000379723.1_Missense_Mutation_p.E61K|SPINK4_ENST00000379725.1_Missense_Mutation_p.E61K	NM_014471.1	NP_055286.1	O60575	ISK4_HUMAN	serine peptidase inhibitor, Kazal type 4	38	Kazal-like. {ECO:0000255|PROSITE- ProRule:PRU00798}.				response to drug (GO:0042493)	extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)			lung(1)	1			LUSC - Lung squamous cell carcinoma(29;0.00506)			GCCCATCTGTGAACACATGGT	0.577																																						ENST00000379725.1																			0				lung(1)	1						c.(181-183)Gaa>Aaa		serine peptidase inhibitor, Kazal type 4							141	125	130					9																	33246623		2203	4300	6503	SO:0001583	missense	27290					extracellular region	serine-type endopeptidase inhibitor activity	g.chr9:33246623G>A	AF048700	CCDS6536.1	9p13.3	2011-08-31	2005-08-17		ENSG00000122711	ENSG00000122711		"Serine peptidase inhibitors, Kazal type"	16646	protein-coding gene	gene with protein product		613929	"serine protease inhibitor, Kazal type 4"			1400298, 17333166	Standard	NM_014471		Approved	PEC-60, MGC133107	uc003zsh.3	O60575	OTTHUMG00000019762	ENST00000379721.3:c.112G>A	9.37:g.33246623G>A	ENSP00000369045:p.Glu38Lys					SPINK4_ENST00000379723.1_Missense_Mutation_p.E61K|SPINK4_ENST00000379721.3_Missense_Mutation_p.E38K	p.E61K			O60575	ISK4_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.00506)		4	303	+			38			Kazal-like.		Q2YDT7	Missense_Mutation	SNP	ENST00000379721.3	37	c.181G>A	CCDS6536.1	.	.	.	.	.	.	.	.	.	.	G	24.7	4.560067	0.86335	.	.	ENSG00000122711	ENST00000379725;ENST00000379723;ENST00000379721	T;T;T	0.74315	-0.83;-0.83;-0.83	4.84	4.84	0.62591	Proteinase inhibitor I1, Kazal (2);	0.076282	0.50627	D	0.000116	T	0.77260	0.4104	.	.	.	0.36792	D	0.884889	P	0.51240	0.943	P	0.56865	0.808	T	0.74904	-0.3505	9	0.16896	T	0.51	-30.0766	13.6415	0.62253	0.0:0.0:1.0:0.0	.	38	O60575	ISK4_HUMAN	K	61;61;38	ENSP00000369048:E61K;ENSP00000369046:E61K;ENSP00000369045:E38K	ENSP00000369045:E38K	E	+	1	0	SPINK4	33236623	1.000000	0.71417	1.000000	0.80357	0.834000	0.47266	4.411000	0.59781	2.692000	0.91855	0.563000	0.77884	GAA		0.577	SPINK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052035.1	NM_014471		6	139	0	0	0	0.248553	0	6	139					A	33246623	G	A	33246623	3	1	107	1	0	0	0	0	1	0	0	0	15060	1291	45	3	122	3	SPINK4	9	33246623	Missense_Mutation	SNP	G	TCGA-EJ-8469-01A-11D-2395-08		33246623	107966808	28	5842											
HSD17B3	3293	broad.mit.edu	37	chr9	99013718	99013718	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acctggatttcatccggtgcGttcaggaaatggcttgggag	8	11	14	8	2	2	0	2	0	0	0	3	3	3	3	2	5	1	2	2	5	1	3	rs115684579	byFrequency	TCGA-EJ-8469-01A-11D-2395-08	TCGA-EJ-8469-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4f80437-b585-4146-b6e0-9e8e44fef3da	77d692db-a5c0-4d14-926a-d2f81943505a	g.chr9:99013718G>A	ENST00000375263.3	-	5	482	c.435C>T	c.(433-435)aaC>aaT	p.N145N	RP11-240L7.4_ENST00000448857.1_RNA|HSD17B3_ENST00000375262.2_Silent_p.N145N|HSD17B3_ENST00000464104.1_5'Flank	NM_000197.1	NP_000188.1	P37058	DHB3_HUMAN	hydroxysteroid (17-beta) dehydrogenase 3	145					androgen biosynthetic process (GO:0006702)|male genitalia development (GO:0030539)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|testosterone biosynthetic process (GO:0061370)	endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)	testosterone 17-beta-dehydrogenase (NADP+) activity (GO:0047045)			breast(1)|endometrium(3)|large_intestine(2)|lung(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	13		Acute lymphoblastic leukemia(62;0.0171)|all_hematologic(171;0.214)				CATCCGGTGCGTTCAGGAAAT	0.478													G|||	2	0.000399361	0.0015	0	5008	,	,		21229	0		0	False		,,,				2504	0					ENST00000375263.3																			0				breast(1)|endometrium(3)|large_intestine(2)|lung(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	13						c.(433-435)aaC>aaT		hydroxysteroid (17-beta) dehydrogenase 3	NADH(DB00157)	G		1,4405	4.2+/-10.8	0,1,2202	110	95	100		435	-8.6	0	9	dbSNP_132	100	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	HSD17B3	NM_000197.1		0,3,6500	AA,AG,GG		0.0233,0.0227,0.0231		145/311	99013718	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	3293				androgen biosynthetic process|male genitalia development	endoplasmic reticulum membrane|microsome	binding|testosterone 17-beta-dehydrogenase (NAD+) activity|testosterone 17-beta-dehydrogenase (NADP+) activity	g.chr9:99013718G>A		CCDS6716.1	9q22	2011-09-20			ENSG00000130948	ENSG00000130948	1.1.1.62	"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3"	5212	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 12C, member 2"	605573				8075637, 19027726	Standard	NM_000197		Approved	SDR12C2	uc004awa.1	P37058	OTTHUMG00000020292	ENST00000375263.3:c.435C>T	9.37:g.99013718G>A						HSD17B3_ENST00000375262.2_Silent_p.N145N	p.N145N	NM_000197.1	NP_000188.1	P37058	DHB3_HUMAN			5	482	-		Acute lymphoblastic leukemia(62;0.0171)|all_hematologic(171;0.214)	145					Q5U0Q6	Silent	SNP	ENST00000375263.3	37	c.435C>T	CCDS6716.1																																																																																				0.478	HSD17B3-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053259.1	NM_000197		41	53	0	0	0	0.870114	0	41	53					A	99013718	G	A	99013718	2	1	107	1	0	0	0	0	0	0	0	1	7385	1136	40	1		1	HSD17B3	9	99013718	Silent	SNP	G	TCGA-EJ-8469-01A-11D-2395-08	65767095	99013718	42199713	29	5843											
CDC14B	8555	broad.mit.edu	37	chr9	99285902	99285902	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gctgctgaggcccaatcaccGagccaggtctgcagatcctg	8	7	12	14	1	2	2	1	1	1	1	3	3	3	2	4	2	3	3	4	2	1	0			TCGA-EJ-8469-01A-11D-2395-08	TCGA-EJ-8469-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4f80437-b585-4146-b6e0-9e8e44fef3da	77d692db-a5c0-4d14-926a-d2f81943505a	g.chr9:99285902G>A	ENST00000375241.1	-	10	1503	c.1052C>T	c.(1051-1053)tCg>tTg	p.S351L	CDC14B_ENST00000481149.1_5'Flank|CDC14B_ENST00000375236.1_Missense_Mutation_p.S351L|CDC14B_ENST00000375240.3_Missense_Mutation_p.S351L|CDC14B_ENST00000463569.1_Missense_Mutation_p.S351L|CDC14B_ENST00000375242.3_Missense_Mutation_p.S314L|CDC14B_ENST00000265659.2_Missense_Mutation_p.S351L	NM_003671.3|NM_033331.2	NP_003662.1|NP_201588.1	O60729	CC14B_HUMAN	cell division cycle 14B	351	B.				activation of anaphase-promoting complex activity (GO:0051488)|DNA repair (GO:0006281)|G2 DNA damage checkpoint (GO:0031572)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)	15		Acute lymphoblastic leukemia(62;0.0559)				CCCAATCACCGAGCCAGGTCT	0.537																																						ENST00000375241.1																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)	15						c.(1051-1053)tCg>tTg		cell division cycle 14B							90	79	83					9																	99285902		2203	4300	6503	SO:0001583	missense	8555				activation of anaphase-promoting complex activity|DNA repair|G2/M transition DNA damage checkpoint	nucleolus|nucleoplasm	protein binding|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr9:99285902G>A	AF023158	CCDS6721.1, CCDS6722.1, CCDS43853.1	9q22.3	2013-01-17	2013-01-17		ENSG00000081377	ENSG00000081377		"Protein tyrosine phosphatases / Class I Cys-based PTPs : CDC14s"	1719	protein-coding gene	gene with protein product		603505	"CDC14 (cell division cycle 14, S. cerevisiae) homolog B", "CDC14 cell division cycle 14 homolog B (S. cerevisiae)"			9367992	Standard	NM_003671		Approved	Cdc14B1, Cdc14B2, CDC14B3, hCDC14B	uc004awj.3	O60729	OTTHUMG00000020300	ENST00000375241.1:c.1052C>T	9.37:g.99285902G>A	ENSP00000364389:p.Ser351Leu					CDC14B_ENST00000463569.1_Missense_Mutation_p.S351L|CDC14B_ENST00000265659.2_Missense_Mutation_p.S351L|CDC14B_ENST00000375242.3_Missense_Mutation_p.S314L|CDC14B_ENST00000375240.3_Missense_Mutation_p.S351L|CDC14B_ENST00000375236.1_Missense_Mutation_p.S351L	p.S351L	NM_003671.3|NM_033331.2	NP_003662.1|NP_201588.1	O60729	CC14B_HUMAN			10	1503	-		Acute lymphoblastic leukemia(62;0.0559)	351			B.		A6N5X8|A8MQ20|B1AL31|B1AL32|O43183|O60730|Q5JU08	Missense_Mutation	SNP	ENST00000375241.1	37	c.1052C>T	CCDS6722.1	.	.	.	.	.	.	.	.	.	.	G	28.4	4.913105	0.92178	.	.	ENSG00000081377	ENST00000265659;ENST00000375241;ENST00000375240;ENST00000375242;ENST00000463569;ENST00000375236	T;T;T;T;T;T	0.22134	1.97;1.97;1.97;1.97;1.97;1.97	5.2	5.2	0.72013	Dual specificity phosphatase, catalytic domain (1);Protein-tyrosine/Dual-specificity phosphatase (1);Dual specificity phosphatase, subgroup, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.48960	0.1529	.	.	.	0.80722	D	1	D;D;D	0.89917	0.976;0.992;1.0	P;P;D	0.81914	0.533;0.781;0.995	T	0.41197	-0.9522	9	0.51188	T	0.08	-2.6907	19.2944	0.94117	0.0:0.0:1.0:0.0	.	351;351;314	O60729-2;O60729;A8MQ20	.;CC14B_HUMAN;.	L	351;351;351;314;351;351	ENSP00000265659:S351L;ENSP00000364389:S351L;ENSP00000364388:S351L;ENSP00000364390:S314L;ENSP00000420572:S351L;ENSP00000364384:S351L	ENSP00000265659:S351L	S	-	2	0	CDC14B	98325723	1.000000	0.71417	0.968000	0.41197	0.954000	0.61252	9.601000	0.98297	2.868000	0.98415	0.555000	0.69702	TCG		0.537	CDC14B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053278.2	NM_033331		13	136	0	0	0	0.457914	0	13	136					A	99285902	G	A	99285902	3	1	107	1	0	0	0	0	1	0	0	0	3057	1059	37	2	464	2	CDC14B	9	99285902	Missense_Mutation	SNP	G	TCGA-EJ-8469-01A-11D-2395-08	272184	99285902	41927529	30	5844											
ZFP37	7539	broad.mit.edu	37	chr9	115805120	115805120	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtttttctccagtgtgggatCgctgatgtataacaagctgt	8	15	11	7	1	1	1	0	1	1	0	3	2	1	2	1	1	2	4	1	1	3	4	rs541249239		TCGA-EJ-8469-01A-11D-2395-08	TCGA-EJ-8469-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4f80437-b585-4146-b6e0-9e8e44fef3da	77d692db-a5c0-4d14-926a-d2f81943505a	g.chr9:115805120C>A	ENST00000374227.3	-	4	1805	c.1778G>T	c.(1777-1779)cGa>cTa	p.R593L	ZFP37_ENST00000553380.1_Missense_Mutation_p.R608L|ZFP37_ENST00000555206.1_Missense_Mutation_p.R594L	NM_001282515.1|NM_001282518.1	NP_001269444.1|NP_001269447.1	Q9Y6Q3	ZFP37_HUMAN	ZFP37 zinc finger protein	593					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	38						AGTGTGGGATCGCTGATGTAT	0.368																																						ENST00000374227.3																			0				NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	38						c.(1777-1779)cGa>cTa		ZFP37 zinc finger protein							192	173	180					9																	115805120		2203	4300	6503	SO:0001583	missense	7539					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr9:115805120C>A	AF022158	CCDS6787.1, CCDS65109.1, CCDS65110.1	9q32	2013-01-08	2012-11-27		ENSG00000136866	ENSG00000136866		"Zinc fingers, C2H2-type", "-"	12863	protein-coding gene	gene with protein product		602951	"zinc finger protein homologous to Zfp37 in mouse", "zinc finger protein 37 homolog (mouse)"				Standard	NM_001282515		Approved	ZNF906	uc004bgm.1	Q9Y6Q3	OTTHUMG00000021019	ENST00000374227.3:c.1778G>T	9.37:g.115805120C>A	ENSP00000363344:p.Arg593Leu					ZFP37_ENST00000555206.1_Missense_Mutation_p.R594L|ZFP37_ENST00000553380.1_Missense_Mutation_p.R608L	p.R593L			Q9Y6Q3	ZFP37_HUMAN			4	1805	-			593					A0AVJ9|B4DVX4|G3V3L7|Q5T7Q4	Missense_Mutation	SNP	ENST00000374227.3	37	c.1778G>T	CCDS6787.1	.	.	.	.	.	.	.	.	.	.	C	16.66	3.184556	0.57909	.	.	ENSG00000136866	ENST00000374227;ENST00000555206;ENST00000553380	T;T;T	0.25085	1.82;1.82;1.82	4.25	3.35	0.38373	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.44483	D	0.000447	T	0.43255	0.1239	L	0.57130	1.785	0.34892	D	0.745593	D;D;D	0.89917	1.0;1.0;0.997	D;D;D	0.74348	0.983;0.973;0.955	T	0.57539	-0.7794	10	0.66056	D	0.02	-9.1634	10.5747	0.45221	0.0:0.9042:0.0:0.0958	.	594;608;593	G3V3L7;Q9Y6Q3-2;Q9Y6Q3	.;.;ZFP37_HUMAN	L	593;594;608	ENSP00000363344:R593L;ENSP00000451310:R594L;ENSP00000452552:R608L	ENSP00000363344:R593L	R	-	2	0	ZFP37	114844941	0.003000	0.15002	0.999000	0.59377	0.932000	0.56968	1.891000	0.39738	1.381000	0.46364	0.655000	0.94253	CGA		0.368	ZFP37-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000055439.1	NM_003408		4	150	1	0	0.150653	0.150653	0.154467	4	150					A	115805120	C	A	115805120	3	1	107	1	0	0	0	0	1	0	0	0	17645	884	31	5	118	5	ZFP37	9	115805120	Missense_Mutation	SNP	C	TCGA-EJ-8469-01A-11D-2395-08	16519218	115805120	25408311	31	5845											
PRKCQ	5588	broad.mit.edu	37	chr10	6498712	6498712	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	acatgttctccttgcacattCcaaaatccgcgatcttgata	11	13	5	12	2	2	1	0	1	2	0	5	2	4	1	3	0	1	2	3	0	3	5			TCGA-EJ-8469-01A-11D-2395-08	TCGA-EJ-8469-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4f80437-b585-4146-b6e0-9e8e44fef3da	77d692db-a5c0-4d14-926a-d2f81943505a	g.chr10:6498712C>A	ENST00000263125.5	-	15	1670	c.1571G>T	c.(1570-1572)gGa>gTa	p.G524V	PRKCQ_ENST00000539722.1_Missense_Mutation_p.G399V|PRKCQ_ENST00000397176.2_Missense_Mutation_p.G524V	NM_001282644.1|NM_006257.3	NP_001269573.1|NP_006248.1	Q04759	KPCT_HUMAN	protein kinase C, theta	524	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|Fc-epsilon receptor signaling pathway (GO:0038095)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|membrane protein ectodomain proteolysis (GO:0006509)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of T cell apoptotic process (GO:0070233)|phototransduction, visible light (GO:0007603)|platelet activation (GO:0030168)|positive regulation of interleukin-17 production (GO:0032740)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of T-helper 17 type immune response (GO:2000318)|positive regulation of T-helper 2 cell activation (GO:2000570)|protein ubiquitination (GO:0016567)|regulation of cell growth (GO:0001558)|regulation of platelet aggregation (GO:0090330)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|regulation of transcription, DNA-templated (GO:0006355)|rhodopsin mediated signaling pathway (GO:0016056)|T cell receptor signaling pathway (GO:0050852)	cytosol (GO:0005829)|immunological synapse (GO:0001772)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(2)	45					Tamoxifen(DB00675)	CTTGCACATTCCAAAATCCGC	0.443																																					Ovarian(50;572 1126 10530 25349 30594)	ENST00000263125.5																			0				NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(2)	45						c.(1570-1572)gGa>gTa		protein kinase C, theta							279	220	240					10																	6498712		2203	4300	6503	SO:0001583	missense	5588				axon guidance|cellular component disassembly involved in apoptosis|intracellular signal transduction|membrane protein ectodomain proteolysis|platelet activation|regulation of cell growth|T cell receptor signaling pathway	cytosol	ATP binding|metal ion binding|protein binding|protein kinase C activity	g.chr10:6498712C>A	L07032	CCDS7079.1, CCDS55701.1, CCDS60482.1	10p15	2009-07-10			ENSG00000065675	ENSG00000065675	2.7.11.1		9410	protein-coding gene	gene with protein product		600448				8444877	Standard	NM_001282645		Approved		uc001ijj.2	Q04759	OTTHUMG00000017623	ENST00000263125.5:c.1571G>T	10.37:g.6498712C>A	ENSP00000263125:p.Gly524Val					PRKCQ_ENST00000539722.1_Missense_Mutation_p.G399V|PRKCQ_ENST00000397176.2_Missense_Mutation_p.G524V	p.G524V	NM_006257.3	NP_006248.1	Q04759	KPCT_HUMAN			15	1670	-			524			Protein kinase.		B4DF52|Q14DH6|Q3MJF1|Q64FY5|Q9H508|Q9H549	Missense_Mutation	SNP	ENST00000263125.5	37	c.1571G>T	CCDS7079.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.13|17.13	3.311403|3.311403	0.60414|0.60414	.|.	.|.	ENSG00000065675|ENSG00000065675	ENST00000397178|ENST00000263125;ENST00000397176;ENST00000539722	.|D;D;D	.|0.89415	.|-2.51;-2.51;-2.51	5.55|5.55	5.55|5.55	0.83447|0.83447	.|Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	.|0.000000	.|0.85682	.|D	.|0.000000	.|D	.|0.96876	.|0.8980	H|H	0.97390|0.97390	3.995|3.995	0.80722|0.80722	D|D	1|1	.|D;D;D;D	.|0.89917	.|1.0;1.0;1.0;1.0	.|D;D;D;D	.|0.97110	.|1.0;1.0;1.0;1.0	.|D	.|0.98038	.|1.0380	.|10	.|0.87932	.|D	.|0	.|.	19.5077|19.5077	0.95125|0.95125	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|399;296;524;524	.|B4DF52;Q5JUN8;Q04759-2;Q04759	.|.;.;.;KPCT_HUMAN	X|V	297|524;524;399	.|ENSP00000263125:G524V;ENSP00000380361:G524V;ENSP00000441752:G399V	.|ENSP00000263125:G524V	E|G	-|-	1|2	0|0	PRKCQ|PRKCQ	6538718|6538718	1.000000|1.000000	0.71417|0.71417	0.986000|0.986000	0.45419|0.45419	0.052000|0.052000	0.14988|0.14988	7.573000|7.573000	0.82421|0.82421	2.591000|2.591000	0.87537|0.87537	0.557000|0.557000	0.71058|0.71058	GAA|GGA		0.443	PRKCQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046665.1	NM_006257		34	59	1	0	4.65686e-17	0.788014	5.38866e-17	34	59					A	6498712	C	A	6498712	3	1	107	1	0	0	0	0	1	0	0	0	12515	855	30	5	565	5	PRKCQ	10	6498712	Missense_Mutation	SNP	C	TCGA-EJ-8469-01A-11D-2395-08		6498712	129036035	32	5846											
BMS1	9790	broad.mit.edu	37	chr10	43288455	43288455	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtttcctcccagacccttgcGctcttcctgaacaacaaaag	10	10	6	15	1	1	2	0	1	1	1	4	2	4	2	4	0	3	2	4	0	4	3	rs200858231		TCGA-EJ-8469-01A-11D-2395-08	TCGA-EJ-8469-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4f80437-b585-4146-b6e0-9e8e44fef3da	77d692db-a5c0-4d14-926a-d2f81943505a	g.chr10:43288455G>A	ENST00000374518.5	+	8	1015	c.952G>A	c.(952-954)Gct>Act	p.A318T		NM_014753.3	NP_055568.3	Q14692	BMS1_HUMAN	BMS1 ribosome biogenesis factor	318					ribosome assembly (GO:0042255)	nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(23)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						AGACCCTTGCGCTCTTCCTGA	0.498																																						ENST00000374518.4																			0				NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(23)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						c.(952-954)Gct>Act		BMS1 ribosome biogenesis factor		G	THR/ALA	0,4406		0,0,2203	127	128	128		952	4.8	0.9	10		128	1,8599	1.2+/-3.3	0,1,4299	yes	missense	BMS1	NM_014753.3	58	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging	318/1283	43288455	1,13005	2203	4300	6503	SO:0001583	missense	9790				ribosome assembly	nucleolus	ATP binding|GTP binding|GTPase activity	g.chr10:43288455G>A	BC043345	CCDS7199.1	10q11.21	2013-05-01	2013-05-01	2007-03-20	ENSG00000165733	ENSG00000165733			23505	protein-coding gene	gene with protein product		611448	"BMS1-like, ribosome assembly protein (yeast)", "BMS1 homolog, ribosome assembly protein (yeast)"	BMS1L		11779832	Standard	NM_014753		Approved	KIAA0187	uc001jaj.3	Q14692	OTTHUMG00000018020	ENST00000374518.5:c.952G>A	10.37:g.43288455G>A	ENSP00000363642:p.Ala318Thr						p.A318T	NM_014753.3	NP_055568.3	Q14692	BMS1_HUMAN			8	1015	+			318					Q5QPT5|Q86XJ9	Missense_Mutation	SNP	ENST00000374518.5	37	c.952G>A	CCDS7199.1	.	.	.	.	.	.	.	.	.	.	g	17.66	3.445464	0.63178	0.0	1.16E-4	ENSG00000165733	ENST00000374518	T	0.08720	3.06	5.66	4.76	0.60689	.	0.103098	0.64402	D	0.000003	T	0.10723	0.0262	L	0.50333	1.59	0.34218	D	0.675092	D	0.55605	0.972	B	0.43916	0.436	T	0.18650	-1.0330	10	0.87932	D	0	.	10.2809	0.43539	0.0709:0.135:0.794:0.0	.	318	Q14692	BMS1_HUMAN	T	318	ENSP00000363642:A318T	ENSP00000363642:A318T	A	+	1	0	BMS1	42608461	1.000000	0.71417	0.886000	0.34754	0.986000	0.74619	5.403000	0.66338	1.441000	0.47550	0.573000	0.79308	GCT		0.498	BMS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047690.2	NM_014753		6	287	0	0	0	0.217242	0	6	287					A	43288455	G	A	43288455	3	1	107	1	0	0	0	0	1	0	0	0	1472	1087	38	1	978	1	BMS1	10	43288455	Missense_Mutation	SNP	G	TCGA-EJ-8469-01A-11D-2395-08	36789743	43288455	92246292	33	5847											
PRF1	5551	broad.mit.edu	37	chr10	72358622	72358624	+	In_Frame_Del	DEL	CTT	CTT	-																															aaggaggccgtcatcttgtgCttcttcttcttctcctcaca																										TCGA-EJ-8469-01A-11D-2395-08	TCGA-EJ-8469-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4f80437-b585-4146-b6e0-9e8e44fef3da	77d692db-a5c0-4d14-926a-d2f81943505a	g.chr10:72358622_72358624delCTT	ENST00000441259.1	-	3	1013_1015	c.853_855delAAG	c.(853-855)aagdel	p.K285del	PRF1_ENST00000373209.2_In_Frame_Del_p.K285del	NM_001083116.1|NM_005041.4	NP_001076585.1|NP_005032.2	P14222	PERF_HUMAN	perforin 1 (pore forming protein)	285	MACPF. {ECO:0000255|PROSITE- ProRule:PRU00745}.		Missing (in FHL2). {ECO:0000269|PubMed:11179007}.		apoptotic process (GO:0006915)|cellular defense response (GO:0006968)|cytolysis (GO:0019835)|defense response to tumor cell (GO:0002357)|defense response to virus (GO:0051607)|immune response to tumor cell (GO:0002418)|protein homooligomerization (GO:0051260)|transmembrane transport (GO:0055085)	cytolytic granule (GO:0044194)|cytoplasmic membrane-bounded vesicle (GO:0016023)|endosome (GO:0005768)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|wide pore channel activity (GO:0022829)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(3)|urinary_tract(3)	23						TCATCTTGTGCTTCTTCTTCTTC	0.591			M			"various leukaemia, lymphoma"	Type 2 familial hemophagocytic lymphohistiocytosis		Familial Hemophagocytic Lymphohistiocytosis																													ENST00000441259.1			yes	Rec			10	10q22	5551	M	perforin 1 (pore forming protein)		Type 2 familial hemophagocytic lymphohistiocytosis	L		"various leukaemia, lymphoma"			0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(3)|urinary_tract(3)	23	GRCh37	CD011186|CD080892	PRF1	D		c.(853-855)del		perforin 1 (pore forming protein)																																				SO:0001651	inframe_deletion	5551	Familial Hemophagocytic Lymphohistiocytosis	Familial Cancer Database	FHLH, FHL, Familial Hemophagocytic Reticulosis, FHR	apoptosis|cellular defense response|cytolysis|defense response to tumor cell|defense response to virus|immune response to tumor cell|protein homooligomerization	cytolytic granule|endosome lumen|extracellular region|integral to membrane|plasma membrane	calcium ion binding|protein binding|wide pore channel activity	g.chr10:72358622_72358624delCTT	BC047695	CCDS7305.1	10q22	2014-09-17			ENSG00000180644	ENSG00000180644			9360	protein-coding gene	gene with protein product	"Perforin", "perforin 1 (preforming protein)"	170280				1505959, 2592021	Standard	NM_005041		Approved	PFP, P1, HPLH2	uc001jrf.4	P14222	OTTHUMG00000018412	ENST00000441259.1:c.853_855delAAG	10.37:g.72358631_72358633delCTT	ENSP00000398568:p.Lys285del					PRF1_ENST00000373209.2_In_Frame_Del_p.K285del	p.K285del	NM_001083116.1|NM_005041.4	NP_001076585.1|NP_005032.2	P14222	PERF_HUMAN			3	1013_1015	-			285		Missing (in FHL2).	MACPF.		B2R6X4|Q59F57|Q86WX7	In_Frame_Del	DEL	ENST00000441259.1	37	c.853_855delAAG	CCDS7305.1																																																																																				0.591	PRF1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048517.2	NM_005041		9	221						9	221	---	---	---	---	-	72358624	CTT	-	72358622	7	5	107	1	0	1	0	1	0	0	0	0	12478	796	28	0	816	0	PRF1	10	72358622	In_Frame_Del	DEL	CTT	TCGA-EJ-8469-01A-11D-2395-08	29070167	72358622	63176125	34	5848											
FAS	355	broad.mit.edu	37	chr10	90768708	90768708	+	Frame_Shift_Del	DEL	T	T	-																															agtgcagatgtaaaccaaacTttttttgtaactctactgta																										TCGA-EJ-8469-01A-11D-2395-08	TCGA-EJ-8469-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4f80437-b585-4146-b6e0-9e8e44fef3da	77d692db-a5c0-4d14-926a-d2f81943505a	g.chr10:90768708delT	ENST00000355279.2	+	4	397	c.397delT	c.(397-399)tttfs	p.F134fs	FAS_ENST00000357339.2_Frame_Shift_Del_p.F134fs|FAS_ENST00000355740.2_Frame_Shift_Del_p.F134fs|FAS_ENST00000352159.4_Frame_Shift_Del_p.F134fs|FAS_ENST00000313771.5_3'UTR			P49327	FAS_HUMAN	Fas cell surface death receptor	0	Beta-ketoacyl synthase. {ECO:0000250}.				acetyl-CoA metabolic process (GO:0006084)|cellular lipid metabolic process (GO:0044255)|cellular response to interleukin-4 (GO:0071353)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|fatty acid metabolic process (GO:0006631)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|osteoblast differentiation (GO:0001649)|pantothenate metabolic process (GO:0015939)|positive regulation of cellular metabolic process (GO:0031325)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|glycogen granule (GO:0042587)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	3-hydroxyoctanoyl-[acyl-carrier-protein] dehydratase activity (GO:0047451)|3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity (GO:0004317)|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity (GO:0004316)|3-oxoacyl-[acyl-carrier-protein] synthase activity (GO:0004315)|[acyl-carrier-protein] S-acetyltransferase activity (GO:0004313)|[acyl-carrier-protein] S-malonyltransferase activity (GO:0004314)|drug binding (GO:0008144)|enoyl-[acyl-carrier-protein] reductase (NADPH, A-specific) activity (GO:0047117)|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity (GO:0004319)|fatty acid synthase activity (GO:0004312)|myristoyl-[acyl-carrier-protein] hydrolase activity (GO:0016295)|NADPH binding (GO:0070402)|oleoyl-[acyl-carrier-protein] hydrolase activity (GO:0004320)|palmitoyl-[acyl-carrier-protein] hydrolase activity (GO:0016296)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(2)	18		Colorectal(252;0.0161)		Colorectal(12;0.000136)|COAD - Colon adenocarcinoma(12;0.000193)	Cerulenin(DB01034)|Orlistat(DB01083)	TAAACCAAACTTTTTTTGTAA	0.368																																						ENST00000355740.2																			0				breast(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(2)	18						c.(397-399)ttfs		Fas cell surface death receptor							338	365	356					10																	90768708		2203	4300	6503	SO:0001589	frameshift_variant	355				activation of caspase activity|activation of pro-apoptotic gene products|anti-apoptosis|cellular response to mechanical stimulus|positive regulation of necrotic cell death	cytosol|extracellular region|integral to membrane|soluble fraction	identical protein binding|kinase binding	g.chr10:90768708delT	M67454	CCDS7393.1, CCDS7394.1, CCDS7395.1	10q24.1	2014-09-17	2013-05-22	2005-01-07	ENSG00000026103	ENSG00000026103		"Tumor necrosis factor receptor superfamily", "CD molecules"	11920	protein-coding gene	gene with protein product	"TNF receptor superfamily member 6"	134637	"tumor necrosis factor receptor superfamily, member 6", "Fas (TNF receptor superfamily, member 6)"	FAS1, APT1, TNFRSF6		1385299, 1385309	Standard	NM_000043		Approved	CD95, APO-1	uc001kfr.3	P25445	OTTHUMG00000018701	ENST00000355279.2:c.397delT	10.37:g.90768708delT	ENSP00000347426:p.Phe134fs					FAS_ENST00000357339.2_Frame_Shift_Del_p.F134fs|FAS_ENST00000352159.4_Frame_Shift_Del_p.F134fs|FAS_ENST00000313771.5_3'UTR|FAS_ENST00000355279.2_Frame_Shift_Del_p.F134fs	p.F134fs	NM_000043.4|NM_152871.2|NM_152872.2	NP_000034.1|NP_690610.1|NP_690611.1	P25445	TNR6_HUMAN		Colorectal(12;0.000136)|COAD - Colon adenocarcinoma(12;0.000193)	4	617	+		Colorectal(252;0.0161)	134					Q13479|Q16702|Q4LE83|Q6P4U5|Q6SS02|Q969R1|Q96C68|Q96IT0	Frame_Shift_Del	DEL	ENST00000355279.2	37	c.397delT	CCDS7395.1																																																																																				0.368	FAS-011	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000049280.2			7	831						7	831	---	---	---	---	-	90768708	T	-	90768708	7	5	107	1	0	1	0	1	0	0	0	0	5681	1609	56	0	411	0	FAS	10	90768708	Frame_Shift_Del	DEL	T	TCGA-EJ-8469-01A-11D-2395-08	18410086	90768708	44766039	35	5849											
AHNAK	79026	broad.mit.edu	37	chr11	62299465	62299466	+	Frame_Shift_Ins	INS	-	-	A																															ctttgatgttcatctcaggcINSatcttaaacttgggcccttt																										TCGA-EJ-8469-01A-11D-2395-08	TCGA-EJ-8469-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4f80437-b585-4146-b6e0-9e8e44fef3da	77d692db-a5c0-4d14-926a-d2f81943505a	g.chr11:62299465_62299466insA	ENST00000378024.4	-	5	2697_2698	c.2423_2424insT	c.(2422-2424)atgfs	p.M808fs	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	808					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				TCATCTCAGGCATCTTAAACTT	0.46																																						ENST00000378024.4																			0				NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268						c.(2422-2424)accfs		AHNAK nucleoprotein																																				SO:0001589	frameshift_variant	79026				nervous system development	nucleus	protein binding	g.chr11:62299465_62299466insA	M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"desmoyokin"	103390	"AHNAK nucleoprotein (desmoyokin)"			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.2424dupT	11.37:g.62299466_62299466dupA	ENSP00000367263:p.Met808fs					AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	p.T808fs	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN			5	2697_2698	-		Melanoma(852;0.155)	808					A1A586	Frame_Shift_Ins	INS	ENST00000378024.4	37	c.2423_2424insT	CCDS31584.1																																																																																				0.46	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060		16	429						16	429	---	---	---	---	A	62299466	-	A	62299465	7	5	107	1	0	1	1	0	0	0	0	0	414	710	25	0	15368	0	AHNAK	11	62299465	Frame_Shift_Ins	INS	-	TCGA-EJ-8469-01A-11D-2395-08		62299465	72707051	36	5850											
PC	5091	broad.mit.edu	37	chr11	66616483	66616483	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacagtctccatcttcatggCactgagcacacacaggggct	10	8	9	14	0	3	1	1	1	2	0	4	1	3	1	1	3	1	3	1	3	0	1			TCGA-EJ-8469-01A-11D-2395-08	TCGA-EJ-8469-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4f80437-b585-4146-b6e0-9e8e44fef3da	77d692db-a5c0-4d14-926a-d2f81943505a	g.chr11:66616483C>A	ENST00000393958.2	-	22	3517	c.3424G>T	c.(3424-3426)Gcc>Tcc	p.A1142S	PC_ENST00000393960.1_Missense_Mutation_p.A1142S|PC_ENST00000529047.1_Missense_Mutation_p.A262S|PC_ENST00000528224.1_5'UTR|PC_ENST00000393955.2_Missense_Mutation_p.A1142S	NM_000920.3	NP_000911.2	P11498	PYC_HUMAN	pyruvate carboxylase	1142	Biotinyl-binding. {ECO:0000255|PROSITE- ProRule:PRU01066}.				biotin metabolic process (GO:0006768)|carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|lipid metabolic process (GO:0006629)|oxaloacetate metabolic process (GO:0006107)|pyruvate metabolic process (GO:0006090)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin carboxylase activity (GO:0004075)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|pyruvate carboxylase activity (GO:0004736)			cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Melanoma(852;0.0525)		Lung(977;0.153)|LUSC - Lung squamous cell carcinoma(976;0.227)	Biotin(DB00121)|Pyruvic acid(DB00119)	ATCTTCATGGCACTGAGCACA	0.592																																						ENST00000393960.1																			0				cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(3424-3426)Gcc>Tcc		pyruvate carboxylase	Biotin(DB00121)|Pyruvic acid(DB00119)						130	114	119					11																	66616483		2200	4295	6495	SO:0001583	missense	5091				gluconeogenesis|lipid biosynthetic process	mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|metal ion binding|pyruvate carboxylase activity	g.chr11:66616483C>A	U04641	CCDS8152.1	11q13.4-q13.5	2012-07-11			ENSG00000173599	ENSG00000173599	6.4.1.1		8636	protein-coding gene	gene with protein product		608786				6548474	Standard	NM_022172		Approved	PCB	uc001ojn.1	P11498	OTTHUMG00000167099	ENST00000393958.2:c.3424G>T	11.37:g.66616483C>A	ENSP00000377530:p.Ala1142Ser					PC_ENST00000528224.1_5'UTR|PC_ENST00000529047.1_Missense_Mutation_p.A262S|PC_ENST00000393958.2_Missense_Mutation_p.A1142S|PC_ENST00000393955.2_Missense_Mutation_p.A1142S	p.A1142S	NM_001040716.1	NP_001035806.1	P11498	PYC_HUMAN		Lung(977;0.153)|LUSC - Lung squamous cell carcinoma(976;0.227)	23	3705	-		Melanoma(852;0.0525)	1142			Biotinyl-binding.		B4DN00|Q16705	Missense_Mutation	SNP	ENST00000393958.2	37	c.3424G>T	CCDS8152.1	.	.	.	.	.	.	.	.	.	.	C	24.2	4.501018	0.85176	.	.	ENSG00000173599	ENST00000529047;ENST00000393955;ENST00000393958;ENST00000393960	T;T;T;T	0.61158	0.13;0.13;0.13;0.13	4.66	4.66	0.58398	Single hybrid motif (1);Biotin/lipoyl attachment (2);	0.110892	0.64402	D	0.000011	T	0.75932	0.3917	M	0.79343	2.45	0.80722	D	1	D	0.71674	0.998	D	0.97110	1.0	T	0.79652	-0.1714	10	0.87932	D	0	-25.9751	15.072	0.72046	0.0:1.0:0.0:0.0	.	1142	P11498	PYC_HUMAN	S	262;1142;1142;1142	ENSP00000435905:A262S;ENSP00000377527:A1142S;ENSP00000377530:A1142S;ENSP00000377532:A1142S	ENSP00000377527:A1142S	A	-	1	0	PC	66373059	1.000000	0.71417	0.984000	0.44739	0.991000	0.79684	5.563000	0.67352	2.414000	0.81942	0.462000	0.41574	GCC		0.592	PC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393115.1	NM_001040716		5	211	1	0	0.014758	0.184627	0.0153256	5	211					A	66616483	C	A	66616483	3	1	107	1	0	0	0	0	1	0	0	0	11497	710	25	5	116	5	PC	11	66616483	Missense_Mutation	SNP	C	TCGA-EJ-8469-01A-11D-2395-08	4317018	66616483	68390033	37	5851											
FAT3	120114	broad.mit.edu	37	chr11	92086739	92086739	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtgaatgaaagtgtcccagtGggaaccagcgttctaacagt	12	9	12	8	1	1	2	0	2	1	0	2	3	2	3	2	1	3	1	2	1	4	2			TCGA-EJ-8469-01A-11D-2395-08	TCGA-EJ-8469-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4f80437-b585-4146-b6e0-9e8e44fef3da	77d692db-a5c0-4d14-926a-d2f81943505a	g.chr11:92086739G>A	ENST00000298047.6	+	1	1478	c.1461G>A	c.(1459-1461)gtG>gtA	p.V487V	FAT3_ENST00000541502.1_Silent_p.V487V|FAT3_ENST00000525166.1_Silent_p.V337V|FAT3_ENST00000409404.2_Silent_p.V487V			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	487	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				GTGTCCCAGTGGGAACCAGCG	0.418										TCGA Ovarian(4;0.039)																												ENST00000298047.6																			0				NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85						c.(1459-1461)gtG>gtA		FAT atypical cadherin 3							75	73	74					11																	92086739		1930	4145	6075	SO:0001819	synonymous_variant	120114				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr11:92086739G>A	AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"Cadherins / Cadherin-related"	23112	protein-coding gene	gene with protein product	"cadherin-related family member 10"	612483	"FAT tumor suppressor homolog 3 (Drosophila)"			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.1461G>A	11.37:g.92086739G>A		TCGA Ovarian(4;0.039)				FAT3_ENST00000409404.2_Silent_p.V487V|FAT3_ENST00000541502.1_Silent_p.V487V|FAT3_ENST00000525166.1_Silent_p.V337V	p.V487V			Q8TDW7	FAT3_HUMAN			1	1478	+		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)	487			Cadherin 5.		B5MDB0|Q96AU6	Silent	SNP	ENST00000298047.6	37	c.1461G>A																																																																																					0.418	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781		19	43	0	0	0	0.557998	0	19	43					A	92086739	G	A	92086739	2	1	107	1	0	0	0	0	0	0	0	1	5691	1335	47	3		3	FAT3	11	92086739	Silent	SNP	G	TCGA-EJ-8469-01A-11D-2395-08	25470256	92086739	42919777	38	5852											
ABCC9	10060	broad.mit.edu	37	chr12	22065906	22065906	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccagtaaatcagccagatagCggaatgtgctactaagtaga	15	8	10	8	1	1	2	1	0	0	2	1	3	1	3	2	1	4	3	2	1	7	5			TCGA-EJ-8469-01A-11D-2395-08	TCGA-EJ-8469-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4f80437-b585-4146-b6e0-9e8e44fef3da	77d692db-a5c0-4d14-926a-d2f81943505a	g.chr12:22065906C>T	ENST00000261201.4	-	6	910	c.911G>A	c.(910-912)cGc>cAc	p.R304H	ABCC9_ENST00000261200.4_Missense_Mutation_p.R304H|ABCC9_ENST00000345162.2_Missense_Mutation_p.R304H	NM_005691.2	NP_005682.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	304	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				defense response to virus (GO:0051607)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	ATP-sensitive potassium channel complex (GO:0008282)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcomere (GO:0030017)|voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|ion channel binding (GO:0044325)|potassium channel activity (GO:0005267)|potassium channel regulator activity (GO:0015459)|sulfonylurea receptor activity (GO:0008281)|transporter activity (GO:0005215)			NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glyburide(DB01016)	AGCCAGATAGCGGAATGTGCT	0.423																																						ENST00000261200.4																			0				NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118						c.(910-912)cGc>cAc		ATP-binding cassette, sub-family C (CFTR/MRP), member 9	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)						89	90	90					12																	22065906		2203	4300	6503	SO:0001583	missense	10060				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity	g.chr12:22065906C>T	AF061323	CCDS8693.1, CCDS8694.1	12p12.1	2014-09-17			ENSG00000069431	ENSG00000069431		"ATP binding cassette transporters / subfamily C"	60	protein-coding gene	gene with protein product	"sulfonylurea receptor 2"	601439				9457174, 15034580	Standard	NM_020297		Approved	SUR2, CMD1O	uc001rfh.3	O60706	OTTHUMG00000169094	ENST00000261201.4:c.911G>A	12.37:g.22065906C>T	ENSP00000261201:p.Arg304His					ABCC9_ENST00000345162.2_Missense_Mutation_p.R304H|ABCC9_ENST00000261201.4_Missense_Mutation_p.R304H	p.R304H	NM_020297.2	NP_064693.2	O60706	ABCC9_HUMAN			6	910	-			304			ABC transmembrane type-1 1.		O60707	Missense_Mutation	SNP	ENST00000261201.4	37	c.911G>A	CCDS8694.1	.	.	.	.	.	.	.	.	.	.	C	28.3	4.907645	0.92107	.	.	ENSG00000069431	ENST00000261200;ENST00000261201;ENST00000345162	D;D;D	0.94457	-3.43;-3.43;-3.43	4.9	4.9	0.64082	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, transmembrane domain (1);	0.000000	0.85682	D	0.000000	D	0.96911	0.8991	M	0.69823	2.125	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.80764	0.994;0.953	D	0.97454	1.0030	10	0.87932	D	0	-13.1262	18.2694	0.90063	0.0:1.0:0.0:0.0	.	304;304	O60706;O60706-2	ABCC9_HUMAN;.	H	304	ENSP00000261200:R304H;ENSP00000261201:R304H;ENSP00000261202:R304H	ENSP00000261200:R304H	R	-	2	0	ABCC9	21957173	1.000000	0.71417	0.561000	0.28357	0.867000	0.49689	7.513000	0.81739	2.545000	0.85829	0.585000	0.79938	CGC		0.423	ABCC9-002	KNOWN	not_organism_supported|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402230.1	NM_005691		47	91	0	0	0	0.870114	0	47	91					T	22065906	C	T	22065906	3	4	107	1	0	0	0	0	1	0	0	0	59	768	27	1	4012	1	ABCC9	12	22065906	Missense_Mutation	SNP	C	TCGA-EJ-8469-01A-11D-2395-08		22065906	111785989	39	5853											
HNF1A	6927	broad.mit.edu	37	chr12	121435350	121435350	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agcctgaccaccctgcagccCgtccagttctcccagccgct	6	7	8	20	2	1	1	0	1	1	0	3	1	2	1	7	0	4	3	7	0	0	1	rs544842497	byFrequency	TCGA-EJ-8469-01A-11D-2395-08	TCGA-EJ-8469-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4f80437-b585-4146-b6e0-9e8e44fef3da	77d692db-a5c0-4d14-926a-d2f81943505a	g.chr12:121435350C>T	ENST00000257555.6	+	7	1609	c.1383C>T	c.(1381-1383)ccC>ccT	p.P461P	RP11-216P16.2_ENST00000606238.1_RNA|HNF1A_ENST00000538626.1_Silent_p.P43P|HNF1A_ENST00000541395.1_Silent_p.P461P|HNF1A_ENST00000544413.1_Silent_p.P461P|HNF1A_ENST00000400024.2_Silent_p.P461P|HNF1A_ENST00000402929.1_3'UTR			P20823	HNF1A_HUMAN	HNF1 homeobox A	461					glucose homeostasis (GO:0042593)|glucose import (GO:0046323)|insulin secretion (GO:0030073)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|renal glucose absorption (GO:0035623)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|protein dimerization activity (GO:0046983)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(8)|large_intestine(19)|liver(175)|lung(9)|ovary(2)|prostate(1)|urinary_tract(1)	221	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					CCCTGCAGCCCGTCCAGTTCT	0.652									Hepatic Adenoma, Familial Clustering of																													ENST00000257555.6																			0				breast(3)|central_nervous_system(2)|cervix(1)|endometrium(8)|large_intestine(19)|liver(175)|lung(9)|ovary(2)|prostate(1)|urinary_tract(1)	221	GRCh37	CI083384	HNF1A	I		c.(1381-1383)ccC>ccT		HNF1 homeobox A							30	33	32					12																	121435350		2203	4300	6503	SO:0001819	synonymous_variant	6927	Hepatic Adenoma, Familial Clustering of	Familial Cancer Database	incl. Maturity-Onset Diabetes of the Young type 3, MODY3	glucose homeostasis|glucose import|insulin secretion|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|renal glucose absorption	cytoplasm|nucleus|protein complex	DNA binding|protein dimerization activity|protein heterodimerization activity|protein homodimerization activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	g.chr12:121435350C>T	M57732	CCDS9209.1	12q24.31	2014-09-17	2007-08-24	2007-08-24	ENSG00000135100	ENSG00000135100		"Homeoboxes / HNF class"	11621	protein-coding gene	gene with protein product		142410	"transcription factor 1, hepatic; LF-B1, hepatic nuclear factor (HNF1), albumin proximal factor"	MODY3, TCF1		1535333, 7795649	Standard	NM_000545		Approved	HNF1, LFB1	uc001tzg.3	P20823	OTTHUMG00000151015	ENST00000257555.6:c.1383C>T	12.37:g.121435350C>T						HNF1A_ENST00000402929.1_3'UTR|HNF1A_ENST00000538626.1_Silent_p.P43P|HNF1A_ENST00000400024.2_Silent_p.P461P|HNF1A_ENST00000544413.1_Silent_p.P461P|HNF1A_ENST00000541395.1_Silent_p.P461P	p.P461P			P20823	HNF1A_HUMAN			7	1609	+	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)		461					A5Z2R8|E0YMJ5|E0YMK0|E0YMK1|E2I9R4|E2I9R5|F5H5U3|Q2M3H2|Q99861	Silent	SNP	ENST00000257555.6	37	c.1383C>T	CCDS9209.1																																																																																				0.652	HNF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320957.5	NM_000545		27	43	0	0	0	0.693898	0	27	43					T	121435350	C	T	121435350	2	4	107	1	0	0	0	0	0	0	0	1	7251	639	23	2		2	HNF1A	12	121435350	Silent	SNP	C	TCGA-EJ-8469-01A-11D-2395-08	99369444	121435350	12416545	40	5854											
EFS	10278	broad.mit.edu	37	chr14	23828664	23828664	+	Silent	SNP	T	T	G																															ccataaccaggcaggcggggTgggggtgggggcagaggccg																										TCGA-EJ-8469-01A-11D-2395-08	TCGA-EJ-8469-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4f80437-b585-4146-b6e0-9e8e44fef3da	77d692db-a5c0-4d14-926a-d2f81943505a	g.chr14:23828664T>G	ENST00000216733.3	-	4	1630	c.1023A>C	c.(1021-1023)ccA>ccC	p.P341P	RP11-124D2.3_ENST00000554010.1_RNA|EFS_ENST00000351354.3_Silent_p.P248P|EFS_ENST00000429593.2_Silent_p.P172P	NM_005864.2	NP_005855.1	O43281	EFS_HUMAN	embryonal Fyn-associated substrate	341	Pro-rich.				cell adhesion (GO:0007155)|intracellular signal transduction (GO:0035556)	cytoplasm (GO:0005737)	protein domain specific binding (GO:0019904)			endometrium(2)|kidney(1)|large_intestine(1)|liver(1)|lung(5)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)	16	all_cancers(95;7.12e-06)			GBM - Glioblastoma multiforme(265;0.00649)		GCAGGCGGGGTGGGGGTGGGG	0.697																																						ENST00000216733.3																			0				endometrium(2)|kidney(1)|large_intestine(1)|liver(1)|lung(5)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)	16						c.(1021-1023)ccA>ccC		embryonal Fyn-associated substrate							32	33	33					14																	23828664		1974	3869	5843	SO:0001819	synonymous_variant	0				cell adhesion|intracellular signal transduction	cytoplasm	SH3 domain binding	g.chr14:23828664T>G	AB001466	CCDS9595.1, CCDS9596.1, CCDS61404.1	14q11.2-q12	2011-04-13			ENSG00000100842	ENSG00000100842		"Cas scaffolding proteins"	16898	protein-coding gene	gene with protein product	"Cas scaffolding protein family member 3"	609906				9349509	Standard	NM_005864		Approved	EFS2, EFS1, HEFS, SIN, CASS3	uc001wjo.4	O43281	OTTHUMG00000028741	ENST00000216733.3:c.1023A>C	14.37:g.23828664T>G						EFS_ENST00000351354.3_Silent_p.P248P|EFS_ENST00000429593.2_Silent_p.P172P	p.P341P	NM_005864.2	NP_005855.1	O43281	EFS_HUMAN		GBM - Glioblastoma multiforme(265;0.00649)	4	1630	-	all_cancers(95;7.12e-06)		341			Pro-rich.		B2RAJ7|B4DJ56|E9PGU2|O43282	Silent	SNP	ENST00000216733.3	37	c.1023A>C	CCDS9595.1																																																																																				0.697	EFS-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071770.2			12	63	0	0	0	0.608945	0	12	63					G	23828664	T	G	23828664	2	3	107	1	0	0	0	0	0	0	0	1	4959	1683	59	5		5	EFS	14	23828664	Silent	SNP	T	TCGA-EJ-8469-01A-11D-2395-08		23828664	83520876	41	5855	33	2									
EFS	10278	broad.mit.edu	37	chr14	23828670	23828670	+	Silent	SNP	T	T	G																															ccaggcaggcggggtgggggTgggggcagaggccggtcctg																										TCGA-EJ-8469-01A-11D-2395-08	TCGA-EJ-8469-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4f80437-b585-4146-b6e0-9e8e44fef3da	77d692db-a5c0-4d14-926a-d2f81943505a	g.chr14:23828670T>G	ENST00000216733.3	-	4	1624	c.1017A>C	c.(1015-1017)ccA>ccC	p.P339P	RP11-124D2.3_ENST00000554010.1_RNA|EFS_ENST00000351354.3_Silent_p.P246P|EFS_ENST00000429593.2_Silent_p.P170P	NM_005864.2	NP_005855.1	O43281	EFS_HUMAN	embryonal Fyn-associated substrate	339	Pro-rich.				cell adhesion (GO:0007155)|intracellular signal transduction (GO:0035556)	cytoplasm (GO:0005737)	protein domain specific binding (GO:0019904)			endometrium(2)|kidney(1)|large_intestine(1)|liver(1)|lung(5)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)	16	all_cancers(95;7.12e-06)			GBM - Glioblastoma multiforme(265;0.00649)		GGGGTGGGGGTGGGGGCAGAG	0.697																																						ENST00000216733.3																			0				endometrium(2)|kidney(1)|large_intestine(1)|liver(1)|lung(5)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)	16						c.(1015-1017)ccA>ccC		embryonal Fyn-associated substrate							29	30	30					14																	23828670		1964	3855	5819	SO:0001819	synonymous_variant	0				cell adhesion|intracellular signal transduction	cytoplasm	SH3 domain binding	g.chr14:23828670T>G	AB001466	CCDS9595.1, CCDS9596.1, CCDS61404.1	14q11.2-q12	2011-04-13			ENSG00000100842	ENSG00000100842		"Cas scaffolding proteins"	16898	protein-coding gene	gene with protein product	"Cas scaffolding protein family member 3"	609906				9349509	Standard	NM_005864		Approved	EFS2, EFS1, HEFS, SIN, CASS3	uc001wjo.4	O43281	OTTHUMG00000028741	ENST00000216733.3:c.1017A>C	14.37:g.23828670T>G						EFS_ENST00000351354.3_Silent_p.P246P|EFS_ENST00000429593.2_Silent_p.P170P	p.P339P	NM_005864.2	NP_005855.1	O43281	EFS_HUMAN		GBM - Glioblastoma multiforme(265;0.00649)	4	1624	-	all_cancers(95;7.12e-06)		339			Pro-rich.		B2RAJ7|B4DJ56|E9PGU2|O43282	Silent	SNP	ENST00000216733.3	37	c.1017A>C	CCDS9595.1																																																																																				0.697	EFS-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071770.2			11	60	0	0	0	0.557998	0	11	60					G	23828670	T	G	23828670	2	3	107	1	0	0	0	0	0	0	0	1	4959	1683	59	5		5	EFS	14	23828670	Silent	SNP	T	TCGA-EJ-8469-01A-11D-2395-08	6	23828670	83520870	42	5856	33	2									
NYNRIN	57523	broad.mit.edu	37	chr14	24877239	24877239	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctggctccctgatggtgggCgggctgactgagtctttcat	4	12	14	11	1	2	3	1	3	1	0	3	3	3	3	2	4	0	2	2	4	0	1	rs189369960	byFrequency	TCGA-EJ-8469-01A-11D-2395-08	TCGA-EJ-8469-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4f80437-b585-4146-b6e0-9e8e44fef3da	77d692db-a5c0-4d14-926a-d2f81943505a	g.chr14:24877239C>T	ENST00000382554.3	+	3	681	c.363C>T	c.(361-363)ggC>ggT	p.G121G		NM_025081.2	NP_079357.2	Q9P2P1	NYNRI_HUMAN	NYN domain and retroviral integrase containing	121					DNA integration (GO:0015074)	integral component of membrane (GO:0016021)	nucleic acid binding (GO:0003676)			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						TGATGGTGGGCGGGCTGACTG	0.667													C|||	9	0.00179712	0.0061	0	5008	,	,		15921	0		0.001	False		,,,				2504	0					ENST00000382554.3																			0				breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						c.(361-363)ggC>ggT		NYN domain and retroviral integrase containing		C		14,4138		0,14,2062	57	64	62		363	-5.7	0.9	14		62	0,8402		0,0,4201	no	coding-synonymous	NYNRIN	NM_025081.2		0,14,6263	TT,TC,CC		0.0,0.3372,0.1115		121/1899	24877239	14,12540	2076	4201	6277	SO:0001819	synonymous_variant	57523				DNA integration	integral to membrane	DNA binding	g.chr14:24877239C>T	AB037726	CCDS45090.1	14q11.2	2009-10-14	2009-10-14	2009-10-14		ENSG00000205978			20165	protein-coding gene	gene with protein product	"Cousin of GIN1"		"KIAA1305"	KIAA1305		19561090, 17114934	Standard	NM_025081		Approved	FLJ11811, CGIN1	uc001wpf.4	Q9P2P1		ENST00000382554.3:c.363C>T	14.37:g.24877239C>T							p.G121G	NM_025081.2	NP_079357.2	Q9P2P1	NYNRI_HUMAN			3	681	+			121					Q6P153|Q86TR3|Q9HAC4	Silent	SNP	ENST00000382554.3	37	c.363C>T	CCDS45090.1																																																																																				0.667	NYNRIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412939.1			5	127	0	0	0	0.248553	0	5	127					T	24877239	C	T	24877239	2	4	107	1	0	0	0	0	0	0	0	1	10796	755	27	1		1	NYNRIN	14	24877239	Silent	SNP	C	TCGA-EJ-8469-01A-11D-2395-08	1048569	24877239	82472301	43	5857											
FBN1	2200	broad.mit.edu	37	chr15	48788406	48788407	+	Frame_Shift_Ins	INS	-	-	A																															cacaaaggagactgttcagtINSacacattcattaatatctgc																										TCGA-EJ-8469-01A-11D-2395-08	TCGA-EJ-8469-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4f80437-b585-4146-b6e0-9e8e44fef3da	77d692db-a5c0-4d14-926a-d2f81943505a	g.chr15:48788406_48788407insA	ENST00000316623.5	-	20	2764_2765	c.2309_2310insT	c.(2308-2310)gtafs	p.V770fs		NM_000138.4	NP_000129	P35555	FBN1_HUMAN	fibrillin 1	770	EGF-like 12; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|kidney development (GO:0001822)|sequestering of BMP in extracellular matrix (GO:0035582)|sequestering of TGFbeta in extracellular matrix (GO:0035583)|skeletal system development (GO:0001501)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		GACTGTTCAGTACACATTCATT	0.351																																						ENST00000316623.5																			0				NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139						c.(2308-2310)gctfs		fibrillin 1																																				SO:0001589	frameshift_variant	2200				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding	g.chr15:48788406_48788407insA	X63556	CCDS32232.1	15q21.1	2014-09-17	2006-04-25			ENSG00000166147			3603	protein-coding gene	gene with protein product	"Marfan syndrome"	134797	"fibrillin 1 (Marfan syndrome)"	FBN, MFS1, WMS		10036187, 12525539	Standard	NM_000138		Approved	MASS, OCTD, SGS	uc001zwx.2	P35555		ENST00000316623.5:c.2310dupT	15.37:g.48788407_48788407dupA	ENSP00000325527:p.Val770fs						p.A770fs	NM_000138.4	NP_000129.3	P35555	FBN1_HUMAN		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)	20	2764_2765	-		all_lung(180;0.00279)	770			EGF-like 12; calcium-binding.		B2RUU0|D2JYH6|Q15972|Q75N87	Frame_Shift_Ins	INS	ENST00000316623.5	37	c.2309_2310insT	CCDS32232.1																																																																																				0.351	FBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417355.1			76	101						76	101	---	---	---	---	A	48788407	-	A	48788406	7	5	107	1	0	1	1	0	0	0	0	0	5702	1625	57	0	6493	0	FBN1	15	48788406	Frame_Shift_Ins	INS	-	TCGA-EJ-8469-01A-11D-2395-08		48788406	53742986	44	5858											
IFT140	9742	broad.mit.edu	37	chr16	1576790	1576790	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgcgccatgttctcccagaCggcctcactgtgggcagacg	6	7	13	15	4	2	2	1	0	1	2	3	2	2	2	3	2	0	2	3	2	0	1	rs538791217		TCGA-EJ-8469-01A-11D-2395-08	TCGA-EJ-8469-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4f80437-b585-4146-b6e0-9e8e44fef3da	77d692db-a5c0-4d14-926a-d2f81943505a	g.chr16:1576790C>A	ENST00000426508.2	-	20	2770	c.2407G>T	c.(2407-2409)Gtc>Ttc	p.V803F	TMEM204_ENST00000253934.5_5'Flank|IFT140_ENST00000361339.5_5'UTR	NM_014714.3	NP_055529.2	Q96RY7	IF140_HUMAN	intraflagellar transport 140	803					cilium assembly (GO:0042384)|intraciliary retrograde transport (GO:0035721)|protein localization to cilium (GO:0061512)|regulation of cilium assembly (GO:1902017)|renal system development (GO:0072001)|retina development in camera-type eye (GO:0060041)|skeletal system morphogenesis (GO:0048705)	axoneme (GO:0005930)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|intraciliary transport particle A (GO:0030991)|photoreceptor connecting cilium (GO:0032391)				breast(1)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(12)|lung(10)|ovary(5)|pancreas(1)|prostate(4)|skin(4)|stomach(2)|urinary_tract(1)	53		Hepatocellular(780;0.219)				TTCTCCCAGACGGCCTCACTG	0.692																																						ENST00000426508.2																			0				breast(1)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(12)|lung(10)|ovary(5)|pancreas(1)|prostate(4)|skin(4)|stomach(2)|urinary_tract(1)	53						c.(2407-2409)Gtc>Ttc		intraflagellar transport 140 homolog (Chlamydomonas)							25	26	26					16																	1576790		2196	4299	6495	SO:0001583	missense	9742							g.chr16:1576790C>A	AB011162	CCDS10439.1	16p13.3	2014-07-03	2014-07-03	2005-11-02	ENSG00000187535	ENSG00000187535		"Intraflagellar transport homologs", "WD repeat domain containing"	29077	protein-coding gene	gene with protein product		614620	"WD and tetratricopeptide repeats 2", "intraflagellar transport 140 homolog (Chlamydomonas)"	WDTC2		9628581	Standard	NM_014714		Approved	gs114, KIAA0590	uc002cmb.3	Q96RY7	OTTHUMG00000128585	ENST00000426508.2:c.2407G>T	16.37:g.1576790C>A	ENSP00000406012:p.Val803Phe					IFT140_ENST00000361339.5_5'UTR	p.V803F	NM_014714.3	NP_055529.2	Q96RY7	IF140_HUMAN			20	2770	-		Hepatocellular(780;0.219)	803					A2A2A8|D3DU75|O60332|Q9UG52	Missense_Mutation	SNP	ENST00000426508.2	37	c.2407G>T	CCDS10439.1	.	.	.	.	.	.	.	.	.	.	C	29.3	4.995461	0.93167	.	.	ENSG00000187535	ENST00000397417;ENST00000426508	T	0.54479	0.57	5.23	5.23	0.72850	.	0.000000	0.85682	D	0.000000	T	0.76321	0.3971	M	0.86651	2.83	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.81914	0.984;0.995	T	0.80091	-0.1527	10	0.56958	D	0.05	.	16.9718	0.86302	0.0:1.0:0.0:0.0	.	803;528	Q96RY7;B4DR58	IF140_HUMAN;.	F	803	ENSP00000406012:V803F	ENSP00000380562:V803F	V	-	1	0	IFT140	1516791	1.000000	0.71417	0.932000	0.37286	0.919000	0.55068	6.017000	0.70805	2.459000	0.83118	0.655000	0.94253	GTC		0.692	IFT140-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250438.2	NM_014714		3	46	1	0	0.000602214	0.184627	0.000641834	3	46					A	1576790	C	A	1576790	3	1	107	1	0	0	0	0	1	0	0	0	7556	536	19	5	2029	5	IFT140	16	1576790	Missense_Mutation	SNP	C	TCGA-EJ-8469-01A-11D-2395-08		1576790	88777963	45	5859											
BTBD12	84464	broad.mit.edu	37	chr16	3647657	3647657	+	Frame_Shift_Del	DEL	G	G	-																															agtcctggactaacaacaatGggggggataccgggggtttc																										TCGA-EJ-8469-01A-11D-2395-08	TCGA-EJ-8469-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4f80437-b585-4146-b6e0-9e8e44fef3da	77d692db-a5c0-4d14-926a-d2f81943505a	g.chr16:3647657delG	ENST00000294008.3	-	7	2046	c.1406delC	c.(1405-1407)ccafs	p.P469fs		NM_032444.2	NP_115820.2	Q8IY92	SLX4_HUMAN	SLX4 structure-specific endonuclease subunit	469	Interaction with SLX4IP, ERCC4 and MSH2.				DNA catabolic process, endonucleolytic (GO:0000737)|DNA double-strand break processing involved in repair via single-strand annealing (GO:0010792)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|double-strand break repair via homologous recombination (GO:0000724)|nucleotide-excision repair (GO:0006289)|positive regulation of catalytic activity (GO:0043085)|response to intra-S DNA damage checkpoint signaling (GO:0072429)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|Slx1-Slx4 complex (GO:0033557)	5'-flap endonuclease activity (GO:0017108)|enzyme activator activity (GO:0008047)			breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	76						TAACAACAATGGGGGGGATAC	0.547								Direct reversal of damage																														ENST00000294008.3																			0				breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	76						c.(1405-1407)cafs	Direct reversal of damage	SLX4 structure-specific endonuclease subunit							62	73	69					16																	3647657		2197	4300	6497	SO:0001589	frameshift_variant	84464				DNA double-strand break processing involved in repair via single-strand annealing|double-strand break repair via homologous recombination|nucleotide-excision repair	Slx1-Slx4 complex	enzyme activator activity|protein binding	g.chr16:3647657delG	AB058687	CCDS10506.2	16p13.3	2014-09-17	2013-06-05	2010-09-13	ENSG00000188827	ENSG00000188827		"Fanconi anemia, complementation groups", "BTB/POZ domain containing"	23845	protein-coding gene	gene with protein product	"Fanconi anemia, complementation group P"	613278	"BTB (POZ) domain containing 12", "SLX4 structure-specific endonuclease subunit homolog (S. cerevisiae)"	BTBD12		11347906, 19595721	Standard	NM_032444		Approved	KIAA1784, KIAA1987, FANCP	uc002cvp.2	Q8IY92	OTTHUMG00000074089	ENST00000294008.3:c.1406delC	16.37:g.3647657delG	ENSP00000294008:p.Pro469fs						p.P469fs	NM_032444.2	NP_115820.2	Q8IY92	SLX4_HUMAN			7	2046	-			469			Interaction with C20orf94, ERCC4 and MSH2.		Q69YT8|Q8TF15|Q96JP1	Frame_Shift_Del	DEL	ENST00000294008.3	37	c.1406delC	CCDS10506.2																																																																																				0.547	SLX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157301.3	NM_032444		7	451						7	451	---	---	---	---	-	3647657	G	-	3647657	7	5	107	1	0	1	0	1	0	0	0	0	1540	1348	47	0	4134	0	BTBD12	16	3647657	Frame_Shift_Del	DEL	G	TCGA-EJ-8469-01A-11D-2395-08	2070867	3647657	86707096	46	5860											
KIAA0430	9665	broad.mit.edu	37	chr16	15729982	15729984	+	In_Frame_Del	DEL	CCA	CCA	-																															tactggtacctccgctaccgCcaccaccaccaccaaaacgc																										TCGA-EJ-8469-01A-11D-2395-08	TCGA-EJ-8469-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4f80437-b585-4146-b6e0-9e8e44fef3da	77d692db-a5c0-4d14-926a-d2f81943505a	g.chr16:15729982_15729984delCCA	ENST00000396368.3	-	3	566_568	c.360_362delTGG	c.(358-363)ggtggc>ggc	p.120_121GG>G	KIAA0430_ENST00000344181.3_5'UTR|KIAA0430_ENST00000540441.2_In_Frame_Del_p.120_121GG>G|KIAA0430_ENST00000551742.1_In_Frame_Del_p.120_121GG>G|KIAA0430_ENST00000602337.1_In_Frame_Del_p.120_121GG>G|KIAA0430_ENST00000548025.1_In_Frame_Del_p.120_121GG>G	NM_001184998.1|NM_001184999.1|NM_014647.3	NP_001171927.1|NP_001171928.1|NP_055462.2	Q9Y4F3	MARF1_HUMAN	KIAA0430	120	Poly-Gly.				double-strand break repair (GO:0006302)|female meiotic division (GO:0007143)|negative regulation of phosphatase activity (GO:0010923)|oogenesis (GO:0048477)|regulation of gene expression (GO:0010468)	membrane (GO:0016020)|peroxisome (GO:0005777)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			breast(4)|endometrium(8)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(5)|skin(1)	40						TCCGCTACCGCCACCACCACCAC	0.532																																						ENST00000396368.3																			0				breast(4)|endometrium(8)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(5)|skin(1)	40						c.(358-363)ggc>gg		KIAA0430																																				SO:0001651	inframe_deletion	9665					peroxisome	nucleotide binding|RNA binding	g.chr16:15729982_15729984delCCA	AB007890	CCDS10562.2, CCDS53990.1, CCDS55991.1	16p13.11	2013-01-11			ENSG00000166783	ENSG00000166783		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	29562	protein-coding gene	gene with protein product	"limkain b1", "protein phosphatase 1, regulatory subunit 34", "meiosis arrest female 1"	614593				9455477, 10493829, 15932519, 22442484, 23090997	Standard	NM_014647		Approved	LKAP, PPP1R34, Marf1	uc010uzw.2	Q9Y4F3	OTTHUMG00000129884	ENST00000396368.3:c.360_362delTGG	16.37:g.15729991_15729993delCCA	ENSP00000379654:p.Gly122del					KIAA0430_ENST00000602337.1_In_Frame_Del_p.GG120del|KIAA0430_ENST00000551742.1_In_Frame_Del_p.GG120del|KIAA0430_ENST00000548025.1_In_Frame_Del_p.GG120del|KIAA0430_ENST00000540441.2_In_Frame_Del_p.GG120del|KIAA0430_ENST00000344181.3_5'UTR	p.GG120del	NM_001184998.1|NM_001184999.1|NM_014647.3	NP_001171927.1|NP_001171928.1|NP_055462.2	Q9Y4F3	LKAP_HUMAN			3	566_568	-			119			Poly-Gly.		A8MSK2|B2RNX2|B4DYY9|B7ZMG1|B7ZMG2|F8VV09|Q6P1R6|Q8WYR2|Q9Y4J9	In_Frame_Del	DEL	ENST00000396368.3	37	c.360_362delTGG	CCDS10562.2																																																																																				0.532	KIAA0430-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252131.2	NM_014647		7	419						7	419	---	---	---	---	-	15729984	CCA	-	15729982	7	5	107	1	0	1	0	1	0	0	0	0	8177	739	26	0	4969	0	KIAA0430	16	15729982	In_Frame_Del	DEL	CCA	TCGA-EJ-8469-01A-11D-2395-08	12082325	15729982	74624771	47	5861											
CES8	283848	broad.mit.edu	37	chr16	67037031	67037031	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catttcccagagtggcaccgCgttattcagacttttcatca	9	13	7	12	2	3	2	3	0	0	2	4	2	4	2	2	1	0	2	2	1	1	5			TCGA-EJ-8469-01A-11D-2395-08	TCGA-EJ-8469-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4f80437-b585-4146-b6e0-9e8e44fef3da	77d692db-a5c0-4d14-926a-d2f81943505a	g.chr16:67037031C>T	ENST00000326686.5	+	6	749	c.749C>T	c.(748-750)gCg>gTg	p.A250V	CES4A_ENST00000338718.4_Missense_Mutation_p.A273V|CES4A_ENST00000540947.2_Missense_Mutation_p.A250V|CES4A_ENST00000398354.1_Missense_Mutation_p.A250V|CES4A_ENST00000540579.1_Missense_Mutation_p.A152V|CES4A_ENST00000541479.1_Missense_Mutation_p.A273V|CES4A_ENST00000535696.1_Missense_Mutation_p.A156V			Q5XG92	EST4A_HUMAN	carboxylesterase 4A	250						extracellular region (GO:0005576)	carboxylic ester hydrolase activity (GO:0052689)			large_intestine(2)|liver(2)|lung(4)|ovary(1)	9						AGTGGCACCGCGTTATTCAGA	0.552																																						ENST00000540947.2																			0				large_intestine(2)|liver(2)|lung(4)|ovary(1)	9						c.(748-750)gCg>gTg		carboxylesterase 4A							105	104	104					16																	67037031		1994	4172	6166	SO:0001583	missense	283848					extracellular region	carboxylesterase activity	g.chr16:67037031C>T	AK094783	CCDS42174.1, CCDS42174.2, CCDS54024.1, CCDS54025.1, CCDS42174.3	16q22.1	2011-10-25	2010-10-12	2010-10-12	ENSG00000172824	ENSG00000172824		"Carboxylesterases"	26741	protein-coding gene	gene with protein product			"carboxylesterase 8 (putative)"	CES8		12975309, 17364878, 20931200	Standard	NM_001190201		Approved	FLJ37464	uc010vix.2	Q5XG92		ENST00000326686.5:c.749C>T	16.37:g.67037031C>T	ENSP00000314145:p.Ala250Val					CES4A_ENST00000535696.1_Missense_Mutation_p.A156V|CES4A_ENST00000398354.1_Missense_Mutation_p.A250V|CES4A_ENST00000540579.1_Missense_Mutation_p.A152V|CES4A_ENST00000338718.4_Missense_Mutation_p.A273V|CES4A_ENST00000326686.5_Missense_Mutation_p.A250V|CES4A_ENST00000541479.1_Missense_Mutation_p.A273V	p.A250V	NM_173815.6	NP_776176.5	Q5XG92	EST4A_HUMAN			6	933	+			250					A8KAJ6|B7Z349|B7Z3L2|B7Z6R3|Q6UX55|Q8N9F4	Missense_Mutation	SNP	ENST00000326686.5	37	c.749C>T		.	.	.	.	.	.	.	.	.	.	c	13.80	2.345883	0.41599	.	.	ENSG00000172824	ENST00000540947;ENST00000541479;ENST00000338718;ENST00000398354;ENST00000326686;ENST00000538199;ENST00000540579;ENST00000535696	T;T;T;T;T;T;T;T	0.70749	-0.51;-0.51;-0.51;-0.51;-0.51;-0.51;-0.51;-0.51	5.23	1.06	0.20224	Carboxylesterase, type B (1);	0.602048	0.14590	N	0.310313	T	0.61110	0.2321	L	0.46614	1.455	0.24754	N	0.992965	B;P;B;B	0.37061	0.021;0.58;0.092;0.109	B;B;B;B	0.37989	0.016;0.066;0.262;0.063	T	0.49351	-0.8949	10	0.38643	T	0.18	.	8.7425	0.34567	0.0:0.6808:0.0:0.3192	.	156;273;250;273	Q5XG92-7;F8WEE9;Q5XG92;F5H5S4	.;.;EST4A_HUMAN;.	V	250;273;273;250;250;213;152;156	ENSP00000444052:A250V;ENSP00000443175:A273V;ENSP00000340714:A273V;ENSP00000381397:A250V;ENSP00000314145:A250V;ENSP00000441103:A213V;ENSP00000441907:A152V;ENSP00000441644:A156V	ENSP00000314145:A250V	A	+	2	0	CES4A	65594532	0.810000	0.29049	0.000000	0.03702	0.141000	0.21300	1.755000	0.38379	-0.002000	0.14469	0.574000	0.79327	GCG		0.552	CES4A-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_173815		64	37	0	0	0	0.870114	0	64	37					T	67037031	C	T	67037031	3	4	107	1	0	0	0	0	1	0	0	0	3273	768	27	1	852	1	CES8	16	67037031	Missense_Mutation	SNP	C	TCGA-EJ-8469-01A-11D-2395-08	51307049	67037031	23317722	48	5862											
HIC1	3090	broad.mit.edu	37	chr17	1960405	1960407	+	In_Frame_Del	DEL	GGC	GGC	-																															gcaagtactgccacctgcggGgcggcggcggcggcggcggc																										TCGA-EJ-8469-01A-11D-2395-08	TCGA-EJ-8469-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4f80437-b585-4146-b6e0-9e8e44fef3da	77d692db-a5c0-4d14-926a-d2f81943505a	g.chr17:1960405_1960407delGGC	ENST00000322941.3	+	2	478_480	c.478_480delGGC	c.(478-480)ggcdel	p.G167del	HIC1_ENST00000399849.3_In_Frame_Del_p.G148del|SMG6_ENST00000573166.1_5'Flank	NM_001098202.1	NP_001091672.1	Q14526	HIC1_HUMAN	hypermethylated in cancer 1	167	Mediates HDAC-dependent transcriptional repression.|Poly-Gly.				intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of Wnt signaling pathway (GO:0030178)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			large_intestine(1)|lung(1)|prostate(1)	3				READ - Rectum adenocarcinoma(1115;0.236)		CCACCTGCGGggcggcggcggcg	0.764																																						ENST00000399849.2																			0				large_intestine(1)|lung(1)|prostate(1)	3						c.(421-423)del		hypermethylated in cancer 1																																				SO:0001651	inframe_deletion	3090				multicellular organismal development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr17:1960405_1960407delGGC		CCDS42229.1, CCDS42230.1	17p13.3	2013-01-09				ENSG00000177374		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	4909	protein-coding gene	gene with protein product		603825					Standard	NM_006497		Approved	ZBTB29, ZNF901	uc010cjy.3	Q14526		ENST00000322941.3:c.478_480delGGC	17.37:g.1960414_1960416delGGC	ENSP00000314080:p.Gly167del					HIC1_ENST00000322941.3_In_Frame_Del_p.G167del	p.G148del	NM_006497.3	NP_006488.2	Q14526	HIC1_HUMAN		READ - Rectum adenocarcinoma(1115;0.236)	2	581_583	+			167					D3DTI4	In_Frame_Del	DEL	ENST00000322941.3	37	c.421_423delGGC	CCDS42229.1																																																																																				0.764	HIC1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438878.1	NM_006497		6	8						6	8	---	---	---	---	-	1960407	GGC	-	1960405	7	5	107	1	0	1	0	1	0	0	0	0	7101	1232	43	0	484	0	HIC1	17	1960405	In_Frame_Del	DEL	GGC	TCGA-EJ-8469-01A-11D-2395-08		1960405	79234805	49	5863											
KIAA0753	9851	broad.mit.edu	37	chr17	6503779	6503779	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctaagtgggtggcagaaacaCtatttagaaataaaattgaa	18	10	9	4	0	0	3	0	1	0	2	0	3	0	3	0	2	1	1	0	2	8	6			TCGA-EJ-8469-01A-11D-2395-08	TCGA-EJ-8469-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4f80437-b585-4146-b6e0-9e8e44fef3da	77d692db-a5c0-4d14-926a-d2f81943505a	g.chr17:6503779C>T	ENST00000361413.3	-	13	2368		c.e13-1		KIAA0753_ENST00000542606.1_Splice_Site|KIAA0753_ENST00000589033.1_Splice_Site|KIAA0753_ENST00000572370.1_Splice_Site|KIAA0753_ENST00000575027.1_Splice_Site|RNA5SP435_ENST00000364044.1_RNA	NM_014804.2	NP_055619.2	Q2KHM9	K0753_HUMAN	KIAA0753							centrosome (GO:0005813)|cytoplasm (GO:0005737)				endometrium(4)|large_intestine(11)|lung(5)|prostate(4)	24				COAD - Colon adenocarcinoma(228;0.157)		GGCAGAAACACTATTTAGAAA	0.383																																						ENST00000361413.3																			0				endometrium(4)|large_intestine(11)|lung(5)|prostate(4)	24						c.e13-1		KIAA0753							74	72	73					17																	6503779		1822	4086	5908	SO:0001630	splice_region_variant	9851					centrosome		g.chr17:6503779C>T		CCDS42247.1	17p13.1	2014-04-04			ENSG00000198920	ENSG00000198920			29110	protein-coding gene	gene with protein product						24613305	Standard	NM_014804		Approved		uc002gde.4	Q2KHM9	OTTHUMG00000177928	ENST00000361413.3:c.2010-1G>A	17.37:g.6503779C>T						KIAA0753_ENST00000589033.1_Splice_Site|KIAA0753_ENST00000575027.1_Splice_Site|KIAA0753_ENST00000572370.1_Splice_Site|KIAA0753_ENST00000542606.1_Splice_Site		NM_014804.2	NP_055619.2	Q2KHM9	K0753_HUMAN		COAD - Colon adenocarcinoma(228;0.157)	13	2368	-								A8KA11|B7Z479|O94853|Q05D97|Q2KHN0|Q9UG45	Splice_Site	SNP	ENST00000361413.3	37		CCDS42247.1	.	.	.	.	.	.	.	.	.	.	C	18.29	3.590946	0.66219	.	.	ENSG00000198920	ENST00000361413;ENST00000542606;ENST00000542826	.	.	.	5.53	5.53	0.82687	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.3443	0.74324	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	KIAA0753	6444503	0.942000	0.31987	0.988000	0.46212	0.969000	0.65631	2.617000	0.46385	2.777000	0.95525	0.591000	0.81541	.		0.383	KIAA0753-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439769.3	NM_014804	Intron	46	90	0	0	0	0.870114	0	46	90					T	6503779	C	T	6503779	5	4	107	1	0	0	0	0	0	0	1	0	8191	579	20	3	922	3	KIAA0753	17	6503779	Splice_Site	SNP	C	TCGA-EJ-8469-01A-11D-2395-08	4543374	6503779	74691431	50	5864											
GGNBP2	79893	broad.mit.edu	37	chr17	34912923	34912923	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	attttctttccctctttcagCgacatggtatgcttaagcaa	9	16	6	10	1	3	0	1	0	2	0	4	1	4	0	1	1	3	3	1	1	3	6			TCGA-EJ-8469-01A-11D-2395-08	TCGA-EJ-8469-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4f80437-b585-4146-b6e0-9e8e44fef3da	77d692db-a5c0-4d14-926a-d2f81943505a	g.chr17:34912923C>T	ENST00000304718.4	+	4	491	c.175C>T	c.(175-177)Cga>Tga	p.R59*		NM_024835.3	NP_079111.1	Q9H3C7	GGNB2_HUMAN	gametogenetin binding protein 2	59					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasmic vesicle (GO:0031410)|nucleus (GO:0005634)				breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(1)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(1)	38		Breast(25;0.00957)|Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0193)		CCTCTTTCAGCGACATGGTAT	0.423																																						ENST00000304718.4																			0				breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(1)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(1)	38						c.e4-1		gametogenetin binding protein 2							152	144	147					17																	34912923		2203	4300	6503	SO:0001630	splice_region_variant	79893				cell differentiation|multicellular organismal development|spermatogenesis	cytoplasmic membrane-bounded vesicle		g.chr17:34912923C>T	AF126964	CCDS11314.1	17q21.1	2014-05-06	2007-08-20	2007-08-20	ENSG00000005955	ENSG00000278311			19357	protein-coding gene	gene with protein product		612275	"zinc finger protein 403"	ZNF403		11728448	Standard	NM_024835		Approved	ZFP403, LZK1, FLJ22561, FLJ21230, DIF-3, DIF3	uc002hnb.3	Q9H3C7	OTTHUMG00000188440	ENST00000304718.4:c.175-1C>T	17.37:g.34912923C>T							p.R59_splice	NM_024835.3	NP_079111.1	Q9H3C7	GGNB2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0193)	4	491	+		Breast(25;0.00957)|Ovarian(249;0.17)	59					B2RPK7|Q96T90|Q9GZR8|Q9H767	Splice_Site	SNP	ENST00000304718.4	37	c.174_splice	CCDS11314.1	.	.	.	.	.	.	.	.	.	.	C	37	6.328925	0.97480	.	.	ENSG00000005955	ENST00000304718	.	.	.	5.08	2.86	0.33363	.	0.202712	0.40554	N	0.001071	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2039	13.3346	0.60509	0.3894:0.6106:0.0:0.0	.	.	.	.	X	59	.	.	R	+	1	2	GGNBP2	31987036	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	1.594000	0.36697	1.074000	0.40909	0.579000	0.79373	CGA		0.423	GGNBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256684.2	NM_024835	Nonsense_Mutation	6	179	0	0	0	0.217242	0	6	179					T	34912923	C	T	34912923	5	4	107	1	0	0	0	0	0	0	1	0	6359	782	27	1	185	1	GGNBP2	17	34912923	Splice_Site	SNP	C	TCGA-EJ-8469-01A-11D-2395-08	28409144	34912923	46282287	51	5865											
SLC4A1	6521	broad.mit.edu	37	chr17	42340029	42340029	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggctcctccatctgggactcGgggatgtctgggtcttcata	5	12	13	11	1	4	0	1	0	3	0	7	2	6	2	2	5	0	1	2	5	1	2			TCGA-EJ-8469-01A-11D-2395-08	TCGA-EJ-8469-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4f80437-b585-4146-b6e0-9e8e44fef3da	77d692db-a5c0-4d14-926a-d2f81943505a	g.chr17:42340029G>A	ENST00000262418.6	-	3	236	c.81C>T	c.(79-81)ccC>ccT	p.P27P	AC003043.1_ENST00000597382.1_Intron|SLC4A1_ENST00000471005.1_5'Flank	NM_000342.3	NP_000333.1	P02730	B3AT_HUMAN	solute carrier family 4 (anion exchanger), member 1 (Diego blood group)	27			P -> H (in dbSNP:rs55777403). {ECO:0000269|PubMed:15489334}.		anion transport (GO:0006820)|bicarbonate transport (GO:0015701)|cellular ion homeostasis (GO:0006873)|chloride transport (GO:0006821)|ion transport (GO:0006811)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|blood microparticle (GO:0072562)|cortical cytoskeleton (GO:0030863)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|Z disc (GO:0030018)	anion transmembrane transporter activity (GO:0008509)|anion:anion antiporter activity (GO:0015301)|ankyrin binding (GO:0030506)|bicarbonate transmembrane transporter activity (GO:0015106)|chloride transmembrane transporter activity (GO:0015108)|inorganic anion exchanger activity (GO:0005452)|protein anchor (GO:0043495)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	40		Breast(137;0.014)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.115)		TCTGGGACTCGGGGATGTCTG	0.597																																						ENST00000262418.6																			0				central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	40						c.(79-81)ccC>ccT		solute carrier family 4 (anion exchanger), member 1							88	81	84					17																	42340029		2203	4300	6503	SO:0001819	synonymous_variant	6521				bicarbonate transport|cellular ion homeostasis	basolateral plasma membrane|cortical cytoskeleton|integral to plasma membrane|Z disc	ankyrin binding|chloride transmembrane transporter activity|inorganic anion exchanger activity|protein anchor|protein homodimerization activity	g.chr17:42340029G>A		CCDS11481.1	17q21.31	2014-07-19	2014-01-02		ENSG00000004939	ENSG00000004939		"CD molecules", "Blood group antigens", "Solute carriers"	11027	protein-coding gene	gene with protein product	"Froese blood group", "Swann blood group", "Wright blood group"	109270	"Waldner blood group", "erythrocyte membrane protein band 3", "Diego blood group", "solute carrier family 4, anion exchanger, member 1 (erythrocyte membrane protein band 3, Diego blood group)", "solute carrier family 4 (anion exchanger), member 1"	EPB3, AE1, DI, WD		8434259	Standard	NM_000342		Approved	RTA1A, CD233, FR, SW, WR	uc002igf.4	P02730	OTTHUMG00000156843	ENST00000262418.6:c.81C>T	17.37:g.42340029G>A						AC003043.1_ENST00000597382.1_Intron	p.P27P	NM_000342.3	NP_000333.1	P02730	B3AT_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.115)	3	236	-		Breast(137;0.014)|Prostate(33;0.0181)	27		P -> H (in dbSNP:rs55777403).			G4V2I6|P78487|Q1ZZ45|Q4KKW9|Q4VB84|Q9UCY7|Q9UDJ1	Silent	SNP	ENST00000262418.6	37	c.81C>T	CCDS11481.1																																																																																				0.597	SLC4A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346194.1	NM_000342		11	27	0	0	0	0.38729	0	11	27					A	42340029	G	A	42340029	2	1	107	1	0	0	0	0	0	0	0	1	14650	1103	39	2		2	SLC4A1	17	42340029	Silent	SNP	G	TCGA-EJ-8469-01A-11D-2395-08	7427106	42340029	38855181	52	5866											
GRB2	2885	broad.mit.edu	37	chr17	73317762	73317762	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggcacctgttctatgtccCgcaggaatatctgctggttt	6	14	11	10	1	2	0	0	0	2	0	3	1	3	1	2	3	1	5	2	3	3	4			TCGA-EJ-8469-01A-11D-2395-08	TCGA-EJ-8469-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4f80437-b585-4146-b6e0-9e8e44fef3da	77d692db-a5c0-4d14-926a-d2f81943505a	g.chr17:73317762C>T	ENST00000392562.1	-	5	1228	c.446G>A	c.(445-447)cGg>cAg	p.R149Q	GRB2_ENST00000316615.5_Missense_Mutation_p.R108Q|GRB2_ENST00000392564.1_Missense_Mutation_p.R149Q|GRB2_ENST00000462266.1_5'UTR|GRB2_ENST00000316804.5_Missense_Mutation_p.R149Q|GRB2_ENST00000392563.1_Missense_Mutation_p.R108Q|GRB2_ENST00000578961.1_Intron			P62993	GRB2_HUMAN	growth factor receptor-bound protein 2	149	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				aging (GO:0007568)|anatomical structure formation involved in morphogenesis (GO:0048646)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|branching involved in labyrinthine layer morphogenesis (GO:0060670)|cell-cell signaling (GO:0007267)|cellular response to ionizing radiation (GO:0071479)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|protein heterooligomerization (GO:0051291)|Ras protein signal transduction (GO:0007265)|receptor internalization (GO:0031623)|regulation of MAPK cascade (GO:0043408)|signal transduction in response to DNA damage (GO:0042770)|T cell costimulation (GO:0031295)|viral process (GO:0016032)	cell-cell junction (GO:0005911)|COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Grb2-EGFR complex (GO:0070436)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|vesicle membrane (GO:0012506)	ephrin receptor binding (GO:0046875)|epidermal growth factor receptor binding (GO:0005154)|identical protein binding (GO:0042802)|insulin receptor substrate binding (GO:0043560)|neurotrophin TRKA receptor binding (GO:0005168)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|SH3 domain binding (GO:0017124)|SH3/SH2 adaptor activity (GO:0005070)			breast(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(3)|skin(1)	17	all_cancers(13;5.44e-09)|all_epithelial(9;1.1e-09)|Breast(9;1.85e-09)|all_lung(278;0.222)		all cancers(21;1.09e-07)|Epithelial(20;1.23e-06)|Lung(188;0.185)		Pegademase bovine(DB00061)	TTCTATGTCCCGCAGGAATAT	0.463																																						ENST00000392562.1																			0				breast(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(3)|skin(1)	17						c.(445-447)cGg>cAg		growth factor receptor-bound protein 2	Pegademase bovine(DB00061)						102	99	100					17																	73317762		2203	4300	6503	SO:0001583	missense	0				axon guidance|blood coagulation|cell junction assembly|cell-cell signaling|cellular response to ionizing radiation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of reactive oxygen species metabolic process|Ras protein signal transduction|receptor internalization|signal transduction in response to DNA damage|T cell costimulation	cytosol|Golgi apparatus	epidermal growth factor receptor binding|insulin receptor substrate binding|SH3/SH2 adaptor activity	g.chr17:73317762C>T		CCDS11721.1, CCDS11722.1	17q24-q25	2013-02-14			ENSG00000177885	ENSG00000177885		"SH2 domain containing"	4566	protein-coding gene	gene with protein product		108355					Standard	NM_002086		Approved	NCKAP2	uc002jnx.4	P62993	OTTHUMG00000134332	ENST00000392562.1:c.446G>A	17.37:g.73317762C>T	ENSP00000376345:p.Arg149Gln					GRB2_ENST00000578961.1_Intron|GRB2_ENST00000392563.1_Missense_Mutation_p.R108Q|GRB2_ENST00000316615.5_Missense_Mutation_p.R108Q|GRB2_ENST00000392564.1_Missense_Mutation_p.R149Q|GRB2_ENST00000316804.5_Missense_Mutation_p.R149Q|GRB2_ENST00000462266.1_5'UTR	p.R149Q			P62993	GRB2_HUMAN	all cancers(21;1.09e-07)|Epithelial(20;1.23e-06)|Lung(188;0.185)		5	1228	-	all_cancers(13;5.44e-09)|all_epithelial(9;1.1e-09)|Breast(9;1.85e-09)|all_lung(278;0.222)		149			SH2.		P29354|Q14450|Q63057|Q63059	Missense_Mutation	SNP	ENST00000392562.1	37	c.446G>A	CCDS11721.1	.	.	.	.	.	.	.	.	.	.	C	25.4	4.630366	0.87660	.	.	ENSG00000177885	ENST00000316804;ENST00000392562;ENST00000392564;ENST00000392563;ENST00000316615	T;T;T;D;D	0.82344	1.73;1.73;1.73;-1.6;-1.6	5.7	5.7	0.88788	SH2 motif (2);	0.000000	0.85682	D	0.000000	T	0.77658	0.4163	L	0.50919	1.6	0.80722	D	1	P;P	0.38767	0.532;0.646	B;B	0.29440	0.102;0.043	T	0.75852	-0.3171	10	0.23891	T	0.37	-31.7926	19.8481	0.96728	0.0:1.0:0.0:0.0	.	108;149	P62993-2;P62993	.;GRB2_HUMAN	Q	149;149;149;108;108	ENSP00000339007:R149Q;ENSP00000376345:R149Q;ENSP00000376347:R149Q;ENSP00000376346:R108Q;ENSP00000317360:R108Q	ENSP00000317360:R108Q	R	-	2	0	GRB2	70829357	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.786000	0.85741	2.705000	0.92388	0.650000	0.86243	CGG		0.463	GRB2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259476.1			8	96	0	0	0	0.27861	0	8	96					T	73317762	C	T	73317762	3	4	107	1	0	0	0	0	1	0	0	0	6758	652	23	2	215	2	GRB2	17	73317762	Missense_Mutation	SNP	C	TCGA-EJ-8469-01A-11D-2395-08	30977733	73317762	7877448	53	5867											
DNAH17	8632	broad.mit.edu	37	chr17	76563191	76563191	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccgaggaggttcccacgcaCgcccccaagctcgattttct	7	8	9	17	4	1	0	0	0	1	0	3	3	2	1	4	2	1	3	4	2	1	3	rs376498268		TCGA-EJ-8469-01A-11D-2395-08	TCGA-EJ-8469-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4f80437-b585-4146-b6e0-9e8e44fef3da	77d692db-a5c0-4d14-926a-d2f81943505a	g.chr17:76563191C>T	ENST00000585328.1	-	10	1466	c.1342G>A	c.(1342-1344)Gtg>Atg	p.V448M	DNAH17_ENST00000389840.5_Missense_Mutation_p.V448M	NM_173628.3	NP_775899.3	Q9UFH2	DYH17_HUMAN	dynein, axonemal, heavy chain 17	448	Stem. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			TTCCCACGCACGCCCCCAAGC	0.488																																						ENST00000389840.5																			0				NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116						c.(1342-1344)Gtg>Atg		dynein, axonemal, heavy chain 17		C	MET/VAL	1,4405	2.1+/-5.4	0,1,2202	51	44	46		1342	2.9	0	17		46	0,8600		0,0,4300	no	missense	DNAH17	NM_173628.3	21	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign	448/4463	76563191	1,13005	2203	4300	6503	SO:0001583	missense	8632							g.chr17:76563191C>T	AJ000522		17q25.3	2012-04-19	2006-09-04		ENSG00000187775	ENSG00000187775		"Axonemal dyneins"	2946	protein-coding gene	gene with protein product		610063	"dynein, axonemal, heavy polypeptide 17", "dynein, axonemal, heavy chain like 1", "dynein, axonemal, heavy like 1"	DNAHL1		9545504	Standard	NM_173628		Approved	DNEL2, FLJ40457	uc010dhp.2	Q9UFH2		ENST00000585328.1:c.1342G>A	17.37:g.76563191C>T	ENSP00000465516:p.Val448Met					DNAH17_ENST00000585328.1_Missense_Mutation_p.V448M	p.V448M					BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)		10	1466	-								O00431|O15206|Q2M2Y1|Q6ZRQ2|Q8N7Q7	Missense_Mutation	SNP	ENST00000585328.1	37	c.1342G>A		.	.	.	.	.	.	.	.	.	.	C	2.440	-0.328734	0.05314	2.27E-4	0.0	ENSG00000187775	ENST00000300671;ENST00000389840	T	0.55588	0.51	4.92	2.94	0.34122	.	0.483083	0.15483	N	0.259983	T	0.40498	0.1119	L	0.40543	1.245	0.09310	N	1	P	0.37101	0.582	B	0.34590	0.186	T	0.13202	-1.0518	10	0.33141	T	0.24	.	9.7175	0.40283	0.0:0.8352:0.0:0.1648	.	150	Q9UFH2-4	.	M	448	ENSP00000374490:V448M	ENSP00000300671:V448M	V	-	1	0	DNAH17	74074786	0.149000	0.22717	0.007000	0.13788	0.016000	0.09150	1.075000	0.30716	0.623000	0.30267	-0.215000	0.12644	GTG		0.488	DNAH17-001	PUTATIVE	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000318962.2	NM_173628		15	13	0	0	0	0.479597	0	15	13					T	76563191	C	T	76563191	3	4	107	1	0	0	0	0	1	0	0	0	4601	536	19	1	12334	1	DNAH17	17	76563191	Missense_Mutation	SNP	C	TCGA-EJ-8469-01A-11D-2395-08	3245429	76563191	4632019	54	5868											
HGS	9146	broad.mit.edu	37	chr17	79657219	79657219	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcatctctccagggcacgtCtttccagaattcaaagagag	11	11	8	11	1	4	2	2	0	2	2	7	3	6	2	2	1	0	1	2	1	2	3			TCGA-EJ-8469-01A-11D-2395-08	TCGA-EJ-8469-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4f80437-b585-4146-b6e0-9e8e44fef3da	77d692db-a5c0-4d14-926a-d2f81943505a	g.chr17:79657219C>A	ENST00000329138.4	+	6	558	c.423C>A	c.(421-423)gtC>gtA	p.V141V		NM_004712.4	NP_004703.1	O14964	HGS_HUMAN	hepatocyte growth factor-regulated tyrosine kinase substrate	141	VHS. {ECO:0000255|PROSITE- ProRule:PRU00218}.				endosomal transport (GO:0016197)|endosome to lysosome transport (GO:0008333)|epidermal growth factor receptor signaling pathway (GO:0007173)|membrane invagination (GO:0010324)|membrane organization (GO:0061024)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of JAK-STAT cascade (GO:0046426)|positive regulation of gene expression (GO:0010628)|protein localization to membrane (GO:0072657)|protein targeting to lysosome (GO:0006622)|regulation of protein catabolic process (GO:0042176)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|secretory granule (GO:0030141)	metal ion binding (GO:0046872)|protein domain specific binding (GO:0019904)			endometrium(2)|kidney(3)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	12	all_neural(118;0.0878)|all_lung(278;0.23)		BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0955)			CAGGGCACGTCTTTCCAGAAT	0.607																																						ENST00000329138.4																			0				endometrium(2)|kidney(3)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	12						c.(421-423)gtC>gtA		hepatocyte growth factor-regulated tyrosine kinase substrate							112	97	102					17																	79657219		2203	4300	6503	SO:0001819	synonymous_variant	9146				cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of cell proliferation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of JAK-STAT cascade|regulation of protein catabolic process	cytosol|early endosome membrane|multivesicular body membrane	metal ion binding|protein domain specific binding	g.chr17:79657219C>A	D84064	CCDS11784.1	17q25	2009-04-29				ENSG00000185359		"Zinc fingers, FYVE domain containing"	4897	protein-coding gene	gene with protein product		604375				9407053, 9630564	Standard	NM_004712		Approved	Hrs, ZFYVE8, Vps27	uc002kbg.3	O14964		ENST00000329138.4:c.423C>A	17.37:g.79657219C>A							p.V141V	NM_004712.4	NP_004703.1	O14964	HGS_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0955)		6	558	+	all_neural(118;0.0878)|all_lung(278;0.23)		141			VHS.		Q9NR36	Silent	SNP	ENST00000329138.4	37	c.423C>A	CCDS11784.1																																																																																				0.607	HGS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440541.1	NM_004712		14	146	1	0	1.3612e-06	0.479597	1.53135e-06	14	146					A	79657219	C	A	79657219	2	1	107	1	0	0	0	0	0	0	0	1	7087	900	32	5		5	HGS	17	79657219	Silent	SNP	C	TCGA-EJ-8469-01A-11D-2395-08	3094028	79657219	1537991	55	5869											
FBN3	84467	broad.mit.edu	37	chr19	8191671	8191671	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtaggagccggccaggttcCgacagacgccactcacacac	10	5	11	15	3	1	1	1	0	0	1	2	3	2	2	4	3	1	2	4	3	1	2	rs367947634		TCGA-EJ-8469-01A-11D-2395-08	TCGA-EJ-8469-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4f80437-b585-4146-b6e0-9e8e44fef3da	77d692db-a5c0-4d14-926a-d2f81943505a	g.chr19:8191671C>T	ENST00000600128.1	-	19	2756	c.2342G>A	c.(2341-2343)cGg>cAg	p.R781Q	FBN3_ENST00000601739.1_Missense_Mutation_p.R781Q|FBN3_ENST00000270509.2_Missense_Mutation_p.R781Q			Q75N90	FBN3_HUMAN	fibrillin 3	781	EGF-like 10; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.					proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						GGCCAGGTTCCGACAGACGCC	0.662																																						ENST00000600128.1																			0				NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						c.(2341-2343)cGg>cAg		fibrillin 3		T	GLN/ARG	0,4406		0,0,2203	37	39	39		2342	-0.2	0	19		39	2,8598	813.5+/-407.0	0,2,4298	no	missense	FBN3	NM_032447.3	43	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	benign	781/2810	8191671	2,13004	2203	4300	6503	SO:0001583	missense	84467					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent	g.chr19:8191671C>T		CCDS12196.1	19p13	2008-02-05							18794	protein-coding gene	gene with protein product		608529					Standard	NM_032447		Approved		uc002mjf.3	Q75N90		ENST00000600128.1:c.2342G>A	19.37:g.8191671C>T	ENSP00000470498:p.Arg781Gln					FBN3_ENST00000601739.1_Missense_Mutation_p.R781Q|FBN3_ENST00000270509.2_Missense_Mutation_p.R781Q	p.R781Q			Q75N90	FBN3_HUMAN			19	2756	-			781			EGF-like 10; calcium-binding.		Q75N91|Q75N92|Q75N93|Q86SJ5|Q96JP8	Missense_Mutation	SNP	ENST00000600128.1	37	c.2342G>A	CCDS12196.1	.	.	.	.	.	.	.	.	.	.	t	3.259	-0.151643	0.06585	0.0	2.33E-4	ENSG00000142449	ENST00000270509	D	0.87179	-2.22	3.52	-0.197	0.13228	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.208119	0.41396	N	0.000891	T	0.69033	0.3066	N	0.12422	0.21	0.09310	N	0.99999	B	0.02656	0.0	B	0.04013	0.001	T	0.52609	-0.8553	10	0.13853	T	0.58	.	6.7264	0.23359	0.259:0.5771:0.0:0.1638	.	781	Q75N90	FBN3_HUMAN	Q	781	ENSP00000270509:R781Q	ENSP00000270509:R781Q	R	-	2	0	FBN3	8097671	0.424000	0.25490	0.007000	0.13788	0.000000	0.00434	0.590000	0.23954	-0.795000	0.04462	-3.002000	0.00076	CGG		0.662	FBN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461428.2	NM_032447		4	110	0	0	0	0.150653	0	4	110					T	8191671	C	T	8191671	3	4	107	1	0	0	0	0	1	0	0	0	5704	652	23	2	6271	2	FBN3	19	8191671	Missense_Mutation	SNP	C	TCGA-EJ-8469-01A-11D-2395-08		8191671	50937312	56	5870											
ECSIT	51295	broad.mit.edu	37	chr19	11618821	11618821	+	Frame_Shift_Del	DEL	G	G	-																															cttacctacgatgtggggctGggggggatctgctgcacctg																										TCGA-EJ-8469-01A-11D-2395-08	TCGA-EJ-8469-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4f80437-b585-4146-b6e0-9e8e44fef3da	77d692db-a5c0-4d14-926a-d2f81943505a	g.chr19:11618821delG	ENST00000270517.7	-	5	916	c.781delC	c.(781-783)cagfs	p.Q261fs	ZNF653_ENST00000293771.5_5'Flank|CTC-398G3.6_ENST00000585656.1_5'Flank|ECSIT_ENST00000591104.1_Frame_Shift_Del_p.Q261fs|ECSIT_ENST00000592312.1_Frame_Shift_Del_p.Q145fs|ECSIT_ENST00000591352.1_5'UTR|ECSIT_ENST00000588998.1_Frame_Shift_Del_p.Q47fs|ZNF653_ENST00000593191.1_5'Flank|ECSIT_ENST00000252440.7_Frame_Shift_Del_p.Q261fs|ECSIT_ENST00000417981.2_Frame_Shift_Del_p.Q47fs	NM_016581.4	NP_057665.2	Q9BQ95	ECSIT_HUMAN	ECSIT signalling integrator	261					BMP signaling pathway (GO:0030509)|innate immune response (GO:0045087)|mesoderm formation (GO:0001707)|oxidation-reduction process (GO:0055114)|regulation of oxidoreductase activity (GO:0051341)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	oxidoreductase activity, acting on NAD(P)H (GO:0016651)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			kidney(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	11						ATGTGGGGCTGGGGGGGATCT	0.582																																						ENST00000270517.7																			0				kidney(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	11						c.(781-783)agfs		ECSIT signalling integrator							93	102	99					19																	11618821		2203	4300	6503	SO:0001589	frameshift_variant	51295				innate immune response|regulation of oxidoreductase activity	mitochondrion	oxidoreductase activity, acting on NADH or NADPH|protein binding	g.chr19:11618821delG	BC005119	CCDS12262.1, CCDS45979.1, CCDS45980.1, CCDS59353.1	19p13.2	2013-05-24	2013-05-24			ENSG00000130159		"Mitochondrial respiratory chain complex assembly factors"	29548	protein-coding gene	gene with protein product	"signaling intermediate in Toll pathway evolutionarily conserved ortholog (mouse)"	608388	"ECSIT homolog (Drosophila)"			10465784, 22982022	Standard	NM_001142464		Approved	SITPEC	uc002msb.3	Q9BQ95		ENST00000270517.7:c.781delC	19.37:g.11618821delG	ENSP00000270517:p.Gln261fs					ECSIT_ENST00000417981.2_Frame_Shift_Del_p.Q47fs|ECSIT_ENST00000591352.1_5'UTR|ECSIT_ENST00000252440.7_Frame_Shift_Del_p.Q261fs|ECSIT_ENST00000591104.1_Frame_Shift_Del_p.Q261fs|ECSIT_ENST00000592312.1_Frame_Shift_Del_p.Q145fs|ECSIT_ENST00000588998.1_Frame_Shift_Del_p.Q47fs	p.Q261fs	NM_016581.4	NP_057665.2	Q9BQ95	ECSIT_HUMAN			5	916	-			261					E9PAN9|K7EMM0|Q96HQ7|Q9NYI1	Frame_Shift_Del	DEL	ENST00000270517.7	37	c.781delC	CCDS12262.1																																																																																				0.582	ECSIT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442603.2	NM_016581		7	266						7	266	---	---	---	---	-	11618821	G	-	11618821	7	5	107	1	0	1	0	1	0	0	0	0	4900	1357	47	0	530	0	ECSIT	19	11618821	Frame_Shift_Del	DEL	G	TCGA-EJ-8469-01A-11D-2395-08	3427150	11618821	47510162	57	5871											
ZNF709	163051	broad.mit.edu	37	chr19	12575498	12575498	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggggtttctctccagtgtgaGttctttcatgcattcgaaag	7	15	11	8	1	3	1	1	1	2	0	6	2	4	1	1	2	1	3	1	2	1	4			TCGA-EJ-8469-01A-11D-2395-08	TCGA-EJ-8469-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4f80437-b585-4146-b6e0-9e8e44fef3da	77d692db-a5c0-4d14-926a-d2f81943505a	g.chr19:12575498G>A	ENST00000397732.3	-	4	1409	c.1238C>T	c.(1237-1239)aCt>aTt	p.T413I	ZNF709_ENST00000428311.1_Missense_Mutation_p.T413I|CTD-3105H18.18_ENST00000598753.1_Intron	NM_152601.3	NP_689814.1	Q8N972	ZN709_HUMAN	zinc finger protein 709	413					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.T413I(2)		large_intestine(3)|upper_aerodigestive_tract(3)	6						TCCAGTGTGAGTTCTTTCATG	0.418																																					GBM(33;565 669 12371 29134 51667)	ENST00000397732.3																			2	Substitution - Missense(2)	p.T413I(2)	kidney(1)|skin(1)	large_intestine(3)|upper_aerodigestive_tract(3)	6						c.(1237-1239)aCt>aTt		zinc finger protein 709							106	111	109					19																	12575498		2202	4299	6501	SO:0001583	missense	163051				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12575498G>A	AK095600	CCDS42504.1	19p13.2	2013-01-08			ENSG00000242852	ENSG00000242852		"Zinc fingers, C2H2-type", "-"	20629	protein-coding gene	gene with protein product							Standard	NM_152601		Approved	FLJ38281	uc002mtv.4	Q8N972	OTTHUMG00000156406	ENST00000397732.3:c.1238C>T	19.37:g.12575498G>A	ENSP00000380840:p.Thr413Ile					ZNF709_ENST00000428311.1_Missense_Mutation_p.T413I|CTD-3105H18.18_ENST00000598753.1_Intron	p.T413I	NM_152601.3	NP_689814.1	Q8N972	ZN709_HUMAN			4	1409	-			413					A8K4E6	Missense_Mutation	SNP	ENST00000397732.3	37	c.1238C>T	CCDS42504.1	.	.	.	.	.	.	.	.	.	.	G	0.031	-1.333208	0.01298	.	.	ENSG00000242852;ENSG00000196826	ENST00000397732;ENST00000428311	T;T	0.06142	3.34;3.34	3.05	-3.79	0.04320	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.35067	N	0.003471	T	0.01976	0.0062	N	0.11000	0.08	0.09310	N	1	B	0.28258	0.205	B	0.25884	0.064	T	0.43814	-0.9368	10	0.02654	T	1	.	5.8441	0.18652	0.2644:0.3999:0.3357:0.0	.	413	Q8N972	ZN709_HUMAN	I	413	ENSP00000380840:T413I;ENSP00000404127:T413I	ENSP00000404127:T413I	T	-	2	0	ZNF709;CTD-2192J16.17	12436498	0.000000	0.05858	0.002000	0.10522	0.972000	0.66771	-2.485000	0.00979	-0.610000	0.05716	0.591000	0.81541	ACT		0.418	ZNF709-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344088.1	NM_152601		5	232	0	0	0	0.217242	0	5	232					A	12575498	G	A	12575498	3	1	107	1	0	0	0	0	1	0	0	0	18110	1029	36	3	691	3	ZNF709	19	12575498	Missense_Mutation	SNP	G	TCGA-EJ-8469-01A-11D-2395-08	956677	12575498	46553485	58	5872											
TPM4	7171	broad.mit.edu	37	chr19	16204531	16204531	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atttgcagagagaacggttgCaaaactggaaaagacaattg	17	8	11	5	1	0	3	0	0	0	3	0	5	0	4	0	2	4	3	0	2	6	3			TCGA-EJ-8469-01A-11D-2395-08	TCGA-EJ-8469-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4f80437-b585-4146-b6e0-9e8e44fef3da	77d692db-a5c0-4d14-926a-d2f81943505a	g.chr19:16204531C>G	ENST00000300933.4	+	7	892	c.632C>G	c.(631-633)gCa>gGa	p.A211G	TPM4_ENST00000591645.1_3'UTR|TPM4_ENST00000344824.6_Missense_Mutation_p.A247G|TPM4_ENST00000538887.1_Missense_Mutation_p.A247G	NM_003290.2	NP_003281.1	P67936	TPM4_HUMAN	tropomyosin 4	211					cellular component movement (GO:0006928)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|osteoblast differentiation (GO:0001649)	cortical cytoskeleton (GO:0030863)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|focal adhesion (GO:0005925)|membrane (GO:0016020)|muscle thin filament tropomyosin (GO:0005862)|podosome (GO:0002102)|stress fiber (GO:0001725)	calcium ion binding (GO:0005509)|structural constituent of muscle (GO:0008307)		TPM4/ALK(12)	breast(1)|large_intestine(3)	4						AGAACGGTTGCAAAACTGGAA	0.483			T	ALK	ALCL																																	ENST00000300933.4				Dom	yes		19	19p13.1	7171	T	tropomyosin 4			L	ALK		ALCL	TPM4/ALK(12)	0				breast(1)|large_intestine(3)	4						c.(631-633)gCa>gGa		tropomyosin 4							119	109	112					19																	16204531		2203	4300	6503	SO:0001583	missense	7171				cellular component movement|muscle filament sliding|response to oxidative stress	cytosol|muscle thin filament tropomyosin|stress fiber	actin binding|calcium ion binding|structural constituent of muscle	g.chr19:16204531C>G		CCDS12338.1, CCDS46007.1	19p13.1	2013-03-11			ENSG00000167460	ENSG00000167460		"Tropomyosins"	12013	protein-coding gene	gene with protein product		600317				8641132	Standard	NM_003290		Approved		uc002ndi.2	P67936	OTTHUMG00000182134	ENST00000300933.4:c.632C>G	19.37:g.16204531C>G	ENSP00000300933:p.Ala211Gly					TPM4_ENST00000344824.6_Missense_Mutation_p.A247G|TPM4_ENST00000591645.1_3'UTR|TPM4_ENST00000538887.1_Missense_Mutation_p.A247G	p.A211G	NM_003290.2	NP_003281.1	P67936	TPM4_HUMAN			7	892	+			211					P07226|Q15659|Q5U0D9|Q9BU85|Q9H8Q3|Q9UCS1|Q9UCS2|Q9UCS3|Q9UCS4	Missense_Mutation	SNP	ENST00000300933.4	37	c.632C>G	CCDS12338.1	.	.	.	.	.	.	.	.	.	.	C	17.84	3.488725	0.64074	.	.	ENSG00000167460	ENST00000344824;ENST00000538887;ENST00000300933	D;D;D	0.97430	-4.38;-4.38;-4.38	4.79	3.74	0.42951	.	0.093197	0.38897	U	0.001534	D	0.98353	0.9453	M	0.90082	3.085	0.49798	D	0.999823	D;P	0.60160	0.987;0.624	D;P	0.64410	0.925;0.516	D	0.98844	1.0756	10	0.72032	D	0.01	-4.7697	12.5674	0.56318	0.0:0.9188:0.0:0.0812	.	211;247	P67936;P67936-2	TPM4_HUMAN;.	G	247;247;211	ENSP00000345230:A247G;ENSP00000439135:A247G;ENSP00000300933:A211G	ENSP00000300933:A211G	A	+	2	0	TPM4	16065531	1.000000	0.71417	0.100000	0.21137	0.482000	0.33219	5.928000	0.70088	1.144000	0.42321	0.650000	0.86243	GCA		0.483	TPM4-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000459673.2	NM_003290		5	196	0	0	0	0.217242	0	5	196					G	16204531	C	G	16204531	3	3	107	1	0	0	0	0	1	0	0	0	16405	710	25	5	906	5	TPM4	19	16204531	Missense_Mutation	SNP	C	TCGA-EJ-8469-01A-11D-2395-08	3629033	16204531	42924452	59	5873											
CATSPERG	57828	broad.mit.edu	37	chr19	38852407	38852407	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgggcgcggccgccgcgcgTcctggagcgctcgggcttcc	1	5	17	18	9	0	0	0	0	0	0	3	1	2	1	5	4	1	2	5	4	0	1			TCGA-EJ-8469-01A-11D-2395-08	TCGA-EJ-8469-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4f80437-b585-4146-b6e0-9e8e44fef3da	77d692db-a5c0-4d14-926a-d2f81943505a	g.chr19:38852407T>G	ENST00000409235.3	+	17	2115	c.2000T>G	c.(1999-2001)gTc>gGc	p.V667G	CATSPERG_ENST00000410018.1_Missense_Mutation_p.V627G|AC005625.1_ENST00000590304.1_RNA|CATSPERG_ENST00000215069.4_3'UTR	NM_021185.4	NP_067008.3	Q6ZRH7	CTSRG_HUMAN	catsper channel auxiliary subunit gamma	667					cell differentiation (GO:0030154)|multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)|spermatogenesis (GO:0007283)	CatSper complex (GO:0036128)|plasma membrane (GO:0005886)|sperm principal piece (GO:0097228)				breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(13)|ovary(1)|pancreas(2)|prostate(6)|skin(3)|stomach(1)|urinary_tract(2)	40						CCGCCGCGCGTCCTGGAGCGC	0.667																																						ENST00000409235.3																			0				breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(13)|ovary(1)|pancreas(2)|prostate(6)|skin(3)|stomach(1)|urinary_tract(2)	40						c.(1999-2001)gTc>gGc		catsper channel auxiliary subunit gamma							19	17	18					19																	38852407		2188	4276	6464	SO:0001583	missense	57828				cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane		g.chr19:38852407T>G	AK128220	CCDS12514.2	19q13.1	2014-05-13	2012-02-22	2009-07-17	ENSG00000099338	ENSG00000099338			25243	protein-coding gene	gene with protein product		613452	"chromosome 19 open reading frame 15", "cation channel, sperm-associated, gamma"	C19orf15		19516020	Standard	NM_021185		Approved	DKFZp434A1022, FLJ46353	uc002oih.4	Q6ZRH7	OTTHUMG00000153223	ENST00000409235.3:c.2000T>G	19.37:g.38852407T>G	ENSP00000386962:p.Val667Gly					CATSPERG_ENST00000215069.4_3'UTR|CATSPERG_ENST00000410018.1_Missense_Mutation_p.V627G	p.V667G	NM_021185.4	NP_067008.3	Q6ZRH7	CTSRG_HUMAN			17	2115	+			667					A6NEG6|Q659E1	Missense_Mutation	SNP	ENST00000409235.3	37	c.2000T>G	CCDS12514.2	.	.	.	.	.	.	.	.	.	.	T	17.46	3.395478	0.62066	.	.	ENSG00000099338	ENST00000410018;ENST00000409235;ENST00000409410	T;T	0.42513	0.97;0.97	4.67	3.65	0.41850	.	1.595100	0.03897	N	0.279615	T	0.48390	0.1497	L	0.55481	1.735	0.19775	N	0.999955	P;D	0.53151	0.904;0.958	P;P	0.48227	0.525;0.571	T	0.24261	-1.0165	10	0.87932	D	0	-5.7195	6.6437	0.22923	0.0:0.1112:0.0:0.8888	.	667;627	Q6ZRH7;B8ZZI7	CTSRG_HUMAN;.	G	627;667;667	ENSP00000387057:V627G;ENSP00000386962:V667G	ENSP00000386962:V667G	V	+	2	0	CATSPERG	43544247	0.019000	0.18553	0.000000	0.03702	0.051000	0.14879	2.309000	0.43699	0.655000	0.30866	0.334000	0.21626	GTC		0.667	CATSPERG-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000330204.1	NM_021185		5	24	0	0	0	0.184627	0	5	24					G	38852407	T	G	38852407	3	3	107	1	0	0	0	0	1	0	0	0	2692	1667	58	5	2062	5	CATSPERG	19	38852407	Missense_Mutation	SNP	T	TCGA-EJ-8469-01A-11D-2395-08	22647876	38852407	20276576	60	5874											
HIF3A	64344	broad.mit.edu	37	chr19	46825111	46825111	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cctggccgctgacccccgccGtttctgcagccctgacctcc	3	8	9	21	3	1	2	0	2	1	0	2	2	2	2	8	1	2	3	8	1	0	1			TCGA-EJ-8469-01A-11D-2395-08	TCGA-EJ-8469-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4f80437-b585-4146-b6e0-9e8e44fef3da	77d692db-a5c0-4d14-926a-d2f81943505a	g.chr19:46825111G>A	ENST00000377670.4	+	10	1254	c.1223G>A	c.(1222-1224)cGt>cAt	p.R408H	HIF3A_ENST00000472815.1_Missense_Mutation_p.R339H|HIF3A_ENST00000339613.2_Missense_Mutation_p.R352H|HIF3A_ENST00000300862.3_Missense_Mutation_p.R406H|HIF3A_ENST00000244303.6_Missense_Mutation_p.R339H|HIF3A_ENST00000420102.2_Missense_Mutation_p.R357H|HIF3A_ENST00000600383.1_Missense_Mutation_p.R339H|AC007193.10_ENST00000596807.1_RNA	NM_152795.3	NP_690008.2	Q9Y2N7	HIF3A_HUMAN	hypoxia inducible factor 3, alpha subunit	408					cellular response to hypoxia (GO:0071456)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|transcription from RNA polymerase II promoter (GO:0006366)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(14)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	33		Ovarian(192;0.00965)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00204)|all cancers(93;0.0107)|GBM - Glioblastoma multiforme(486;0.0489)|Epithelial(262;0.136)		GACCCCCGCCGTTTCTGCAGC	0.692																																						ENST00000339613.2																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(14)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	33						c.(1054-1056)cGt>cAt		hypoxia inducible factor 3, alpha subunit							38	45	43					19																	46825111		2202	4297	6499	SO:0001583	missense	64344				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity	g.chr19:46825111G>A	AK027725	CCDS12681.2, CCDS12682.1, CCDS42580.1, CCDS42580.2	19q13	2013-05-21			ENSG00000124440	ENSG00000124440		"Basic helix-loop-helix proteins"	15825	protein-coding gene	gene with protein product		609976				11573933, 11734856	Standard	NM_152794		Approved	IPAS, MOP7, PASD7, bHLHe17	uc002peh.3	Q9Y2N7	OTTHUMG00000141296	ENST00000377670.4:c.1223G>A	19.37:g.46825111G>A	ENSP00000366898:p.Arg408His					HIF3A_ENST00000600383.1_Missense_Mutation_p.R339H|HIF3A_ENST00000377670.4_Missense_Mutation_p.R408H|HIF3A_ENST00000472815.1_Missense_Mutation_p.R339H|HIF3A_ENST00000420102.2_Missense_Mutation_p.R357H|HIF3A_ENST00000244303.6_Missense_Mutation_p.R339H|HIF3A_ENST00000300862.3_Missense_Mutation_p.R406H|AC007193.10_ENST00000596807.1_RNA	p.R352H			Q9Y2N7	HIF3A_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00204)|all cancers(93;0.0107)|GBM - Glioblastoma multiforme(486;0.0489)|Epithelial(262;0.136)	10	1310	+		Ovarian(192;0.00965)|all_neural(266;0.0887)	408					B0M185|B4DNA2|Q58A43|Q66K72|Q8WXA1|Q96K34|Q9H7Z9|Q9HAI2	Missense_Mutation	SNP	ENST00000377670.4	37	c.1055G>A	CCDS12681.2	.	.	.	.	.	.	.	.	.	.	G	23.1	4.376068	0.82682	.	.	ENSG00000124440	ENST00000244302;ENST00000377670;ENST00000244303;ENST00000339613;ENST00000291300;ENST00000300862;ENST00000420102	T;T;T;T;T	0.67171	0.48;-0.25;0.36;0.48;-0.25	4.98	4.98	0.66077	.	0.166029	0.27092	N	0.020972	T	0.71204	0.3312	L	0.27053	0.805	0.27705	N	0.945667	D;D;D;D;D;D;D	0.89917	0.999;0.997;1.0;0.995;0.998;0.999;0.999	P;P;D;P;P;P;D	0.76071	0.908;0.828;0.909;0.656;0.813;0.813;0.987	T	0.65487	-0.6156	10	0.51188	T	0.08	.	14.1265	0.65225	0.0:0.0:1.0:0.0	.	357;339;406;357;352;408;408	F5H884;B4DNA2;Q9Y2N7-2;B4DSD9;A8MPQ1;Q9Y2N7;B0M185	.;.;.;.;.;HIF3A_HUMAN;.	H	408;408;339;352;352;406;357	ENSP00000366898:R408H;ENSP00000244303:R339H;ENSP00000341877:R352H;ENSP00000300862:R406H;ENSP00000407771:R357H	ENSP00000244302:R408H	R	+	2	0	HIF3A	51516951	0.997000	0.39634	0.996000	0.52242	0.844000	0.47949	4.857000	0.62939	2.484000	0.83849	0.655000	0.94253	CGT		0.692	HIF3A-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000280556.3			18	99	0	0	0	0.681144	0	18	99					A	46825111	G	A	46825111	3	1	107	1	0	0	0	0	1	0	0	0	7105	1145	40	1	1285	1	HIF3A	19	46825111	Missense_Mutation	SNP	G	TCGA-EJ-8469-01A-11D-2395-08	7972704	46825111	12303872	61	5875											
CPXM1	56265	broad.mit.edu	37	chr20	2774864	2774864	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgtccccttagccgctccAggcgcctgcgaaggtccggg	4	8	13	16	4	1	0	0	0	1	0	4	1	4	0	6	3	2	1	6	3	2	1			TCGA-EJ-8469-01A-11D-2395-08	TCGA-EJ-8469-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4f80437-b585-4146-b6e0-9e8e44fef3da	77d692db-a5c0-4d14-926a-d2f81943505a	g.chr20:2774864A>G	ENST00000380605.2	-	14	2241	c.2177T>C	c.(2176-2178)cTg>cCg	p.L726P		NM_001184699.1|NM_019609.4	NP_001171628.1|NP_062555.1	Q96SM3	CPXM1_HUMAN	carboxypeptidase X (M14 family), member 1	726					cell adhesion (GO:0007155)	extracellular space (GO:0005615)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			endometrium(5)|kidney(5)|large_intestine(8)|lung(17)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	43						TAGCCGCTCCAGGCGCCTGCG	0.627																																						ENST00000380605.2																			0				endometrium(5)|kidney(5)|large_intestine(8)|lung(17)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	43						c.(2176-2178)cTg>cCg		carboxypeptidase X (M14 family), member 1							37	42	40					20																	2774864		2202	4299	6501	SO:0001583	missense	56265				cell adhesion|proteolysis		metallocarboxypeptidase activity|zinc ion binding	g.chr20:2774864A>G	AL035460	CCDS13033.1	20p13	2012-02-10	2006-08-24	2006-08-24	ENSG00000088882	ENSG00000088882			15771	protein-coding gene	gene with protein product	"carboxypeptidase-like protein X1"	609555	"carboxypeptidase X (M14 family)"	CPXM		14702039	Standard	NM_019609		Approved	CPX-1, CPX1	uc002wgu.3	Q96SM3	OTTHUMG00000031706	ENST00000380605.2:c.2177T>C	20.37:g.2774864A>G	ENSP00000369979:p.Leu726Pro						p.L726P	NM_001184699.1|NM_019609.4	NP_001171628.1|NP_062555.1	Q96SM3	CPXM1_HUMAN			14	2241	-			726					Q6P4G8|Q6UW65|Q9NUB5	Missense_Mutation	SNP	ENST00000380605.2	37	c.2177T>C	CCDS13033.1	.	.	.	.	.	.	.	.	.	.	A	18.71	3.681222	0.68042	.	.	ENSG00000088882	ENST00000380605;ENST00000421947	D	0.95690	-3.78	5.65	4.55	0.56014	Carboxypeptidase-like, regulatory domain (1);	0.391760	0.25500	N	0.030248	D	0.92401	0.7588	L	0.46157	1.445	0.58432	D	0.999997	B	0.11235	0.004	B	0.10450	0.005	D	0.88640	0.3175	10	0.59425	D	0.04	-15.1431	9.9535	0.41653	0.9192:0.0:0.0808:0.0	.	726	Q96SM3	CPXM1_HUMAN	P	726;422	ENSP00000369979:L726P	ENSP00000369979:L726P	L	-	2	0	CPXM1	2722864	1.000000	0.71417	0.922000	0.36590	0.894000	0.52154	4.283000	0.58977	1.075000	0.40932	0.533000	0.62120	CTG		0.627	CPXM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077643.2	NM_019609		7	137	0	0	0	0.248553	0	7	137					G	2774864	A	G	2774864	3	3	107	1	0	0	0	0	1	0	0	0	3837	188	7	4	31	4	CPXM1	20	2774864	Missense_Mutation	SNP	A	TCGA-EJ-8469-01A-11D-2395-08		2774864	60250656	62	5876											
TRIOBP	11078	broad.mit.edu	37	chr22	38121845	38121845	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcccagacacatcagatgcCgagcatcagtgtcagtcccc	10	7	8	16	1	3	2	3	0	0	2	5	3	5	2	4	0	2	1	4	0	0	0	rs373257196		TCGA-EJ-8469-01A-11D-2395-08	TCGA-EJ-8469-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4f80437-b585-4146-b6e0-9e8e44fef3da	77d692db-a5c0-4d14-926a-d2f81943505a	g.chr22:38121845C>T	ENST00000406386.3	+	7	3537	c.3282C>T	c.(3280-3282)gcC>gcT	p.A1094A		NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	1094					actin modification (GO:0030047)|barbed-end actin filament capping (GO:0051016)|mitotic nuclear division (GO:0007067)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	actin filament binding (GO:0051015)|GTP-Rho binding (GO:0017049)|myosin II binding (GO:0045159)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					CATCAGATGCCGAGCATCAGT	0.652																																						ENST00000406386.3																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						c.(3280-3282)gcC>gcT		TRIO and F-actin binding protein		C		0,3896		0,0,1948	81	89	87		3282	-6.1	0	22		87	2,8232		0,2,4115	no	coding-synonymous	TRIOBP	NM_001039141.2		0,2,6063	TT,TC,CC		0.0243,0.0,0.0165		1094/2366	38121845	2,12128	1948	4117	6065	SO:0001819	synonymous_variant	11078				actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding	g.chr22:38121845C>T	AB051449	CCDS33644.1, CCDS43015.1, CCDS43016.1	22q13.1	2014-06-03			ENSG00000100106	ENSG00000100106		"Pleckstrin homology (PH) domain containing"	17009	protein-coding gene	gene with protein product		609761		DFNB28		11148140, 16385457, 16385458	Standard	NM_001039141		Approved	HRIHFB2122, KIAA1662, Tara, TAP68	uc003atr.3	Q9H2D6	OTTHUMG00000150657	ENST00000406386.3:c.3282C>T	22.37:g.38121845C>T						RP1-37E16.12_ENST00000455236.1_RNA	p.A1094A	NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN			7	3537	+	Melanoma(58;0.0574)		1094					B1AHD4|B1AHD7|F2Z2W0|F8W6V6|O94797|Q2PZW8|Q2Q3Z9|Q2Q400|Q5R3M6|Q96DW1|Q9BT77|Q9BTL7|Q9BY98|Q9Y3L4	Silent	SNP	ENST00000406386.3	37	c.3282C>T	CCDS43015.1																																																																																				0.652	TRIOBP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319439.2			6	279	0	0	0	0.248553	0	6	279					T	38121845	C	T	38121845	2	4	107	1	0	0	0	0	0	0	0	1	16550	639	23	2		2	TRIOBP	22	38121845	Silent	SNP	C	TCGA-EJ-8469-01A-11D-2395-08		38121845	13182721	63	5877											
NAP1L2	4674	broad.mit.edu	37	chrX	72433664	72433666	+	In_Frame_Del	DEL	TCC	TCC	-																															ctccagtagcctcaatgtcgTcctcctcctcctcctcctcc																								rs369450592		TCGA-EJ-8469-01A-11D-2395-08	TCGA-EJ-8469-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4f80437-b585-4146-b6e0-9e8e44fef3da	77d692db-a5c0-4d14-926a-d2f81943505a	g.chrX:72433664_72433666delTCC	ENST00000373517.3	-	1	1018_1020	c.663_665delGGA	c.(661-666)gaggac>gac	p.E221del	NAP1L2_ENST00000536638.1_In_Frame_Del_p.E79del	NM_021963.3	NP_068798.1	Q9ULW6	NP1L2_HUMAN	nucleosome assembly protein 1-like 2	221	Glu-rich (acidic).				nucleosome assembly (GO:0006334)|positive regulation of histone H3-K14 acetylation (GO:0071442)|positive regulation of histone H3-K9 acetylation (GO:2000617)|positive regulation of neuron differentiation (GO:0045666)|regulation of stem cell division (GO:2000035)	nucleus (GO:0005634)	chromatin binding (GO:0003682)			NS(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(12)|skin(3)	29	Renal(35;0.156)					CTCAATGTCGtcctcctcctcct	0.424														95	0.0251656	0.0272	0.0173	3775	,	,		14422	0.0069		0.0089	False		,,,				2504	0.0317					ENST00000373517.3																			0				NS(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(12)|skin(3)	29						c.(661-666)gac>ga		nucleosome assembly protein 1-like 2																																				SO:0001651	inframe_deletion	4674				nucleosome assembly	chromatin assembly complex		g.chrX:72433664_72433666delTCC	AF136178	CCDS14423.1	Xq13	2008-02-05			ENSG00000186462	ENSG00000186462			7638	protein-coding gene	gene with protein product		300026				8789438	Standard	NM_021963		Approved	BPX, MGC26243	uc004ebi.3	Q9ULW6	OTTHUMG00000021827	ENST00000373517.3:c.663_665delGGA	X.37:g.72433673_72433675delTCC	ENSP00000362616:p.Glu221del					NAP1L2_ENST00000536638.1_In_Frame_Del_p.ED79del	p.ED221del	NM_021963.3	NP_068798.1	Q9ULW6	NP1L2_HUMAN			1	1018_1020	-	Renal(35;0.156)		221			Glu-rich (acidic).		B2RE61|B4E161|Q8TAN6	In_Frame_Del	DEL	ENST00000373517.3	37	c.663_665delGGA	CCDS14423.1																																																																																				0.424	NAP1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057225.1	NM_021963		7	61						7	61	---	---	---	---	-	72433666	TCC	-	72433664	7	5	107	1	0	1	0	1	0	0	0	0	10157	1667	58	0	721	0	NAP1L2	23	72433664	In_Frame_Del	DEL	TCC	TCGA-EJ-8469-01A-11D-2395-08		72433664	82836896	64	5878											
KLHL4	56062	broad.mit.edu	37	chrX	86887270	86887270	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttggctacatattggcaccaTgaatggccgtaggcttcaat	10	12	10	9	1	1	1	1	1	0	0	1	1	1	1	2	4	1	4	2	4	5	6			TCGA-EJ-8469-01A-11D-2395-08	TCGA-EJ-8469-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4f80437-b585-4146-b6e0-9e8e44fef3da	77d692db-a5c0-4d14-926a-d2f81943505a	g.chrX:86887270T>C	ENST00000373119.4	+	7	1530	c.1385T>C	c.(1384-1386)aTg>aCg	p.M462T	KLHL4_ENST00000373114.4_Missense_Mutation_p.M462T	NM_019117.4	NP_061990.2	Q9C0H6	KLHL4_HUMAN	kelch-like family member 4	462						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(29)|ovary(2)|prostate(1)|skin(1)	67						ATTGGCACCATGAATGGCCGT	0.393																																						ENST00000373119.4																			0				NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(29)|ovary(2)|prostate(1)|skin(1)	67						c.(1384-1386)aTg>aCg		kelch-like family member 4							99	84	89					X																	86887270		2203	4300	6503	SO:0001583	missense	0					cytoplasm|microtubule cytoskeleton|nucleolus	actin binding	g.chrX:86887270T>C	AF284765	CCDS14456.1, CCDS14457.1	Xq21.3	2013-01-30	2013-01-30		ENSG00000102271	ENSG00000102271		"Kelch-like", "BTB/POZ domain containing"	6355	protein-coding gene	gene with protein product		300348	"kelch (Drosophila)-like 4", "kelch-like 4 (Drosophila)"			11401425	Standard	NM_019117		Approved	KIAA1687, DKELCHL, KHL4	uc004efa.2	Q9C0H6	OTTHUMG00000021946	ENST00000373119.4:c.1385T>C	X.37:g.86887270T>C	ENSP00000362211:p.Met462Thr					KLHL4_ENST00000373114.4_Missense_Mutation_p.M462T	p.M462T	NM_019117.4	NP_061990.2	Q9C0H6	KLHL4_HUMAN			7	1530	+			462					B2RTW2|Q9Y3J5	Missense_Mutation	SNP	ENST00000373119.4	37	c.1385T>C	CCDS14457.1	.	.	.	.	.	.	.	.	.	.	T	18.56	3.651443	0.67472	.	.	ENSG00000102271	ENST00000373119;ENST00000373114	D;D	0.83992	-1.79;-1.79	5.32	5.32	0.75619	Galactose oxidase, beta-propeller (1);	0.000000	0.85682	D	0.000000	D	0.92665	0.7669	M	0.92970	3.365	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.76575	0.988;0.979	D	0.94147	0.7402	10	0.87932	D	0	.	13.4485	0.61155	0.0:0.0:0.0:1.0	.	462;462	Q9C0H6;Q9C0H6-2	KLHL4_HUMAN;.	T	462	ENSP00000362211:M462T;ENSP00000362206:M462T	ENSP00000362206:M462T	M	+	2	0	KLHL4	86773926	1.000000	0.71417	0.913000	0.36048	0.975000	0.68041	7.531000	0.81973	1.770000	0.52166	0.412000	0.27726	ATG		0.393	KLHL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057413.1			3	43	0	0	0	0.115264	0	3	43					C	86887270	T	C	86887270	3	2	107	1	0	0	0	0	1	0	0	0	8391	1464	51	4	1411	4	KLHL4	23	86887270	Missense_Mutation	SNP	T	TCGA-EJ-8469-01A-11D-2395-08	14453606	86887270	68383290	65	5879											
CLDN2	9075	broad.mit.edu	37	chrX	106171821	106171821	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacagagtggcggtagcaggTggagtctttttcatccttgg	7	12	15	7	1	2	1	1	0	1	1	3	3	3	2	1	5	1	2	1	5	1	4			TCGA-EJ-8469-01A-11D-2395-08	TCGA-EJ-8469-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4f80437-b585-4146-b6e0-9e8e44fef3da	77d692db-a5c0-4d14-926a-d2f81943505a	g.chrX:106171821T>G	ENST00000541806.1	+	2	882	c.363T>G	c.(361-363)ggT>ggG	p.G121G	CLDN2_ENST00000336803.1_Silent_p.G121G|CLDN2_ENST00000540876.1_Silent_p.G121G	NM_001171092.1	NP_001164563.1	P57739	CLD2_HUMAN	claudin 2	121					calcium-independent cell-cell adhesion (GO:0016338)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	identical protein binding (GO:0042802)|structural molecule activity (GO:0005198)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1)	9						CGGTAGCAGGTGGAGTCTTTT	0.542																																						ENST00000541806.1																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1)	9						c.(361-363)ggT>ggG		claudin 2							121	103	109					X																	106171821		2203	4300	6503	SO:0001819	synonymous_variant	9075				calcium-independent cell-cell adhesion	integral to membrane|tight junction	identical protein binding|structural molecule activity	g.chrX:106171821T>G	AK075405	CCDS14524.1	Xq22.3-q23	2008-05-14			ENSG00000165376	ENSG00000165376		"Claudins"	2041	protein-coding gene	gene with protein product		300520				9892664	Standard	NM_020384		Approved		uc022ccc.1	P57739	OTTHUMG00000022154	ENST00000541806.1:c.363T>G	X.37:g.106171821T>G						CLDN2_ENST00000540876.1_Silent_p.G121G|CLDN2_ENST00000336803.1_Silent_p.G121G	p.G121G	NM_001171092.1	NP_001164563.1	P57739	CLD2_HUMAN			2	882	+			121					B2R6B9	Silent	SNP	ENST00000541806.1	37	c.363T>G	CCDS14524.1																																																																																				0.542	CLDN2-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057815.1			4	72	0	0	0	0.624587	0	4	72					G	106171821	T	G	106171821	2	3	107	1	0	0	0	0	0	0	0	1	3481	1683	59	5		5	CLDN2	23	106171821	Silent	SNP	T	TCGA-EJ-8469-01A-11D-2395-08	19284551	106171821	49098739	66	5880											
PARS2	25973	broad.mit.edu	37	chr1	55224347	55224347	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tctgggaggcaattaaggccGtaatggcttcctcgtgagtt	8	12	13	8	2	1	1	0	1	1	0	3	2	2	2	2	4	0	4	2	4	3	4			TCGA-EJ-8470-01A-11D-2395-08	TCGA-EJ-8470-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5303fe3d-a1df-4e49-9fe3-94d7daf30ab1	7dccc1c4-8cb2-47b1-8383-93623cc51068	g.chr1:55224347G>A	ENST00000371279.3	-	2	570	c.488C>T	c.(487-489)aCg>aTg	p.T163M		NM_152268.3	NP_689481.2	Q7L3T8	SYPM_HUMAN	prolyl-tRNA synthetase 2, mitochondrial (putative)	163					gene expression (GO:0010467)|prolyl-tRNA aminoacylation (GO:0006433)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|proline-tRNA ligase activity (GO:0004827)			breast(1)|endometrium(3)|kidney(2)|lung(4)|ovary(2)|prostate(2)|skin(1)	15					L-Proline(DB00172)	AATTAAGGCCGTAATGGCTTC	0.532																																						ENST00000371279.3																			0				breast(1)|endometrium(3)|kidney(2)|lung(4)|ovary(2)|prostate(2)|skin(1)	15						c.(487-489)aCg>aTg		prolyl-tRNA synthetase 2, mitochondrial (putative)	L-Proline(DB00172)						206	202	203					1																	55224347		2203	4300	6503	SO:0001583	missense	25973				prolyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|proline-tRNA ligase activity	g.chr1:55224347G>A	AK025585	CCDS597.1	1p32.2	2011-07-01	2007-02-23		ENSG00000162396	ENSG00000162396	6.1.1.15	"Aminoacyl tRNA synthetases / Class II"	30563	protein-coding gene	gene with protein product	"proline tRNA ligase 2, mitochondrial (putative)"	612036				15779907	Standard	NM_152268		Approved	DKFZp727A071	uc001cxy.3	Q7L3T8	OTTHUMG00000009915	ENST00000371279.3:c.488C>T	1.37:g.55224347G>A	ENSP00000360327:p.Thr163Met						p.T163M	NM_152268.3	NP_689481.2	Q7L3T8	SYPM_HUMAN			2	570	-			163					A8K0W4|Q9H6S5|Q9UFT1	Missense_Mutation	SNP	ENST00000371279.3	37	c.488C>T	CCDS597.1	.	.	.	.	.	.	.	.	.	.	G	15.14	2.745048	0.49151	.	.	ENSG00000162396	ENST00000371279	T	0.69175	-0.38	4.99	4.99	0.66335	Aminoacyl-tRNA synthetase, class II (1);Aminoacyl-tRNA synthetase, class II (G/ H/ P/ S), conserved domain (1);	0.000000	0.85682	D	0.000000	D	0.88709	0.6510	H	0.97214	3.96	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.92996	0.6419	10	0.87932	D	0	-8.6958	18.3001	0.90160	0.0:0.0:1.0:0.0	.	163	Q7L3T8	SYPM_HUMAN	M	163	ENSP00000360327:T163M	ENSP00000360327:T163M	T	-	2	0	PARS2	54996935	1.000000	0.71417	0.728000	0.30774	0.253000	0.25986	9.588000	0.98232	2.310000	0.77875	0.563000	0.77884	ACG		0.532	PARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027436.1	NM_152268		5	388	0	0	0	1	0	5	388					A	55224347	G	A	55224347	3	1	108	1	0	0	0	0	1	0	0	0	11467	1145	40	1	943	1	PARS2	1	55224347	Missense_Mutation	SNP	G	TCGA-EJ-8470-01A-11D-2395-08		55224347	194026274	1	5881											
CRNN	49860	broad.mit.edu	37	chr1	152382519	152382519	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaccctgcctgtatctgagTgtgtcctcctgtcacagcct	5	13	9	14	0	2	2	1	2	1	0	4	2	4	2	5	0	2	1	5	0	1	1			TCGA-EJ-8470-01A-11D-2395-08	TCGA-EJ-8470-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5303fe3d-a1df-4e49-9fe3-94d7daf30ab1	7dccc1c4-8cb2-47b1-8383-93623cc51068	g.chr1:152382519T>C	ENST00000271835.3	-	3	1101	c.1039A>G	c.(1039-1041)Act>Gct	p.T347A	RP1-91G5.3_ENST00000411804.1_RNA	NM_016190.2	NP_057274.1	Q9UBG3	CRNN_HUMAN	cornulin	347	Gln-rich.				response to heat (GO:0009408)|single organismal cell-cell adhesion (GO:0016337)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGTATCTGAGTGTGTCCTCCT	0.592																																						ENST00000271835.3																			0				breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35						c.(1039-1041)Act>Gct		cornulin							234	198	210					1																	152382519		2203	4300	6503	SO:0001583	missense	49860				cell-cell adhesion|response to heat	cytoplasm|membrane	calcium ion binding	g.chr1:152382519T>C	AF077831	CCDS1010.1	1q21	2014-01-28	2005-06-13	2005-06-13	ENSG00000143536	ENSG00000143536		"EF-hand domain containing"	1230	protein-coding gene	gene with protein product		611312	"chromosome 1 open reading frame 10"	C1orf10		11056050, 15854041	Standard	NM_016190		Approved	SEP53	uc001ezx.2	Q9UBG3	OTTHUMG00000012383	ENST00000271835.3:c.1039A>G	1.37:g.152382519T>C	ENSP00000271835:p.Thr347Ala					RP1-91G5.3_ENST00000411804.1_RNA	p.T347A	NM_016190.2	NP_057274.1	Q9UBG3	CRNN_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	1101	-	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		347			Gln-rich.		B2RE60|Q8N613	Missense_Mutation	SNP	ENST00000271835.3	37	c.1039A>G	CCDS1010.1	.	.	.	.	.	.	.	.	.	.	T	2.400	-0.337775	0.05278	.	.	ENSG00000143536	ENST00000271835	T	0.04119	3.7	4.83	-9.65	0.00537	.	3.275770	0.00559	N	0.000263	T	0.00468	0.0015	N	0.04508	-0.205	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.41556	-0.9502	10	0.13853	T	0.58	.	4.7627	0.13116	0.1864:0.4725:0.0905:0.2506	.	347	Q9UBG3	CRNN_HUMAN	A	347	ENSP00000271835:T347A	ENSP00000271835:T347A	T	-	1	0	CRNN	150649143	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-3.505000	0.00448	-2.995000	0.00278	-1.994000	0.00447	ACT		0.592	CRNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034503.1	NM_016190		5	383	0	0	0	1	0	5	383					C	152382519	T	C	152382519	3	2	108	1	0	0	0	0	1	0	0	0	3892	1696	59	4	452	4	CRNN	1	152382519	Missense_Mutation	SNP	T	TCGA-EJ-8470-01A-11D-2395-08	97158172	152382519	96868102	2	5882											
NIF3L1	60491	broad.mit.edu	37	chr2	201756971	201756971	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tatcttccgacccatgaagcGcataacctggaacacatgga	13	8	8	12	2	1	1	0	1	1	0	2	4	2	3	3	2	3	1	3	2	4	3			TCGA-EJ-8470-01A-11D-2395-08	TCGA-EJ-8470-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5303fe3d-a1df-4e49-9fe3-94d7daf30ab1	7dccc1c4-8cb2-47b1-8383-93623cc51068	g.chr2:201756971G>A	ENST00000409020.1	+	2	599	c.305G>A	c.(304-306)cGc>cAc	p.R102H	NIF3L1_ENST00000416651.1_Missense_Mutation_p.R102H|NIF3L1_ENST00000359683.4_Missense_Mutation_p.R75H|PPIL3_ENST00000465823.1_5'Flank|NIF3L1_ENST00000409588.1_Missense_Mutation_p.R102H|PPIL3_ENST00000286175.8_5'Flank|NIF3L1_ENST00000409357.1_Missense_Mutation_p.R102H|PPIL3_ENST00000409449.1_5'Flank			Q9GZT8	GTPC1_HUMAN	NIF3 NGG1 interacting factor 3-like 1 (S. cerevisiae)	102					7,8-dihydroneopterin 3'-triphosphate biosynthetic process (GO:0035998)|positive regulation of transcription, DNA-templated (GO:0045893)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)|GTP cyclohydrolase I activity (GO:0003934)|metal ion binding (GO:0046872)|transcription factor binding (GO:0008134)	p.R102H(1)|p.R75H(1)		cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(1)|urinary_tract(2)	13						CCCATGAAGCGCATAACCTGG	0.547																																						ENST00000409020.1																			2	Substitution - Missense(2)	p.R102H(1)|p.R75H(1)	urinary_tract(2)	cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(1)|urinary_tract(2)	13						c.(304-306)cGc>cAc		NIF3 NGG1 interacting factor 3-like 1 (S. cerevisiae)							123	119	120					2																	201756971		1951	4145	6096	SO:0001583	missense	60491				positive regulation of transcription, DNA-dependent		transcription factor binding	g.chr2:201756971G>A	AB038949	CCDS42797.1, CCDS46485.1, CCDS46486.1	2q33	2011-11-10	2011-11-10		ENSG00000196290	ENSG00000196290			13390	protein-coding gene	gene with protein product		605778	"NIF3 (Ngg1 interacting factor 3, S.pombe homolog)-like 1", "NIF3 NGG1 interacting factor 3-like 1 (S. pombe)"	ALS2CR1		11124544, 11161814, 12522100	Standard	NM_001136039		Approved	CALS-7, MDS015	uc002uwm.2	Q9GZT8	OTTHUMG00000154588	ENST00000409020.1:c.305G>A	2.37:g.201756971G>A	ENSP00000386394:p.Arg102His					NIF3L1_ENST00000359683.4_Missense_Mutation_p.R75H|NIF3L1_ENST00000409357.1_Missense_Mutation_p.R102H|NIF3L1_ENST00000409588.1_Missense_Mutation_p.R102H|NIF3L1_ENST00000416651.1_Missense_Mutation_p.R102H	p.R102H			Q9GZT8	NIF3L_HUMAN			2	599	+			102					Q53TX4|Q6X735|Q9H2D2|Q9HC18	Missense_Mutation	SNP	ENST00000409020.1	37	c.305G>A	CCDS46485.1	.	.	.	.	.	.	.	.	.	.	G	12.76	2.035474	0.35893	.	.	ENSG00000196290	ENST00000426253;ENST00000416651;ENST00000454952;ENST00000409020;ENST00000359683;ENST00000409357;ENST00000409129;ENST00000374679;ENST00000409588	T;T;T;T;T;T;T;T	0.44881	0.91;0.91;0.91;0.91;0.91;0.91;0.91;0.91	4.84	-0.883	0.10600	.	0.355351	0.33272	N	0.005088	T	0.26159	0.0638	L	0.37800	1.135	0.37025	D	0.896406	P;B	0.38300	0.626;0.27	B;B	0.34931	0.192;0.141	T	0.11867	-1.0570	10	0.26408	T	0.33	-0.0495	9.6839	0.40087	0.3957:0.0:0.6043:0.0	.	102;102	Q6X735;Q9GZT8	.;NIF3L_HUMAN	H	75;102;102;102;75;102;75;102;102	ENSP00000412761:R75H;ENSP00000400787:R102H;ENSP00000394955:R102H;ENSP00000386394:R102H;ENSP00000352711:R75H;ENSP00000387315:R102H;ENSP00000387061:R75H;ENSP00000387021:R102H	ENSP00000352711:R75H	R	+	2	0	NIF3L1	201465216	0.540000	0.26410	0.002000	0.10522	0.858000	0.48976	0.912000	0.28597	-0.390000	0.07774	0.455000	0.32223	CGC		0.547	NIF3L1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336201.1	NM_021824		4	195	0	0	0	1	0	4	195					A	201756971	G	A	201756971	3	1	108	1	0	0	0	0	1	0	0	0	10416	1087	38	1	307	1	NIF3L1	2	201756971	Missense_Mutation	SNP	G	TCGA-EJ-8470-01A-11D-2395-08		201756971	41442402	3	5883											
RAPH1	65059	broad.mit.edu	37	chr2	204305685	204305685	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggatcttcagtggaggaggcGgggcactgaactgtggaagg	9	7	19	6	1	2	1	1	1	1	0	2	5	2	5	0	8	1	1	0	8	2	1			TCGA-EJ-8470-01A-11D-2395-08	TCGA-EJ-8470-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5303fe3d-a1df-4e49-9fe3-94d7daf30ab1	7dccc1c4-8cb2-47b1-8383-93623cc51068	g.chr2:204305685G>A	ENST00000319170.5	-	14	2527	c.2228C>T	c.(2227-2229)cCg>cTg	p.P743L	RAPH1_ENST00000457812.1_Intron|ABI2_ENST00000295851.5_3'UTR|RAPH1_ENST00000374493.3_Missense_Mutation_p.P795L	NM_213589.1	NP_998754.1	Q70E73	RAPH1_HUMAN	Ras association (RalGDS/AF-6) and pleckstrin homology domains 1	743					axon extension (GO:0048675)|cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)				breast(5)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						TGGAGGAGGCGGGGCACTGAA	0.642																																						ENST00000319170.5																			0				breast(5)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(2227-2229)cCg>cTg		Ras association (RalGDS/AF-6) and pleckstrin homology domains 1							39	51	47					2																	204305685		2128	4174	6302	SO:0001583	missense	65059				cell-matrix adhesion|signal transduction	cytoplasm|cytoskeleton|filopodium|lamellipodium|nucleus|plasma membrane		g.chr2:204305685G>A	AJ584699	CCDS2359.1, CCDS2360.1	2q33	2013-01-10	2003-11-25	2003-11-26	ENSG00000173166	ENSG00000173166		"Pleckstrin homology (PH) domain containing"	14436	protein-coding gene	gene with protein product	"amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 18"	609035	"amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 9"	ALS2CR9, ALS2CR18			Standard	NM_203365		Approved	KIAA1681	uc002vad.3	Q70E73	OTTHUMG00000132876	ENST00000319170.5:c.2228C>T	2.37:g.204305685G>A	ENSP00000316543:p.Pro743Leu					RAPH1_ENST00000457812.1_Intron|RAPH1_ENST00000374493.3_Missense_Mutation_p.P795L	p.P743L	NM_213589.1	NP_998754.1	Q70E73	RAPH1_HUMAN			14	2527	-			743					Q96Q37|Q9C0I2	Missense_Mutation	SNP	ENST00000319170.5	37	c.2228C>T	CCDS2359.1	.	.	.	.	.	.	.	.	.	.	G	11.97	1.796259	0.31777	.	.	ENSG00000173166	ENST00000319170;ENST00000374493	T;T	0.46451	0.88;0.87	1.65	0.633	0.17712	.	.	.	.	.	T	0.24005	0.0581	N	0.24115	0.695	0.80722	D	1	B	0.26120	0.142	B	0.14578	0.011	T	0.05869	-1.0859	9	0.66056	D	0.02	.	5.8401	0.18629	0.0:0.0:0.4153:0.5847	.	743	Q70E73	RAPH1_HUMAN	L	743;795	ENSP00000316543:P743L;ENSP00000363617:P795L	ENSP00000316543:P743L	P	-	2	0	RAPH1	204013930	0.998000	0.40836	0.907000	0.35723	0.752000	0.42762	3.494000	0.53273	0.193000	0.20303	0.305000	0.20034	CCG		0.642	RAPH1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256363.2	NM_025252		23	199	0	0	0	1	0	23	199					A	204305685	G	A	204305685	3	1	108	1	0	0	0	0	1	0	0	0	13050	1116	39	2	1528	2	RAPH1	2	204305685	Missense_Mutation	SNP	G	TCGA-EJ-8470-01A-11D-2395-08	2548714	204305685	38893688	4	5884											
SP100	6672	broad.mit.edu	37	chr2	231368925	231368925	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aagaattcccaaagatgaaaAtattaattttaaacaatctg	20	12	4	5	0	1	3	0	1	1	2	2	3	2	3	1	0	1	0	1	0	10	5			TCGA-EJ-8470-01A-11D-2395-08	TCGA-EJ-8470-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5303fe3d-a1df-4e49-9fe3-94d7daf30ab1	7dccc1c4-8cb2-47b1-8383-93623cc51068	g.chr2:231368925A>G	ENST00000264052.5	+	21	2145	c.1790A>G	c.(1789-1791)aAt>aGt	p.N597S	SP100_ENST00000340126.4_Missense_Mutation_p.N597S|RN7SL834P_ENST00000461450.2_RNA|SP100_ENST00000409112.1_Missense_Mutation_p.N597S	NM_003113.3	NP_003104.2	P23497	SP100_HUMAN	SP100 nuclear antigen	597	SAND. {ECO:0000255|PROSITE- ProRule:PRU00185}.				cytokine-mediated signaling pathway (GO:0019221)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of cellular component movement (GO:0051271)|negative regulation of DNA binding (GO:0043392)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of protein export from nucleus (GO:0046826)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of viral transcription (GO:0032897)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of angiogenesis (GO:0045765)|regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902041)|regulation of Fas signaling pathway (GO:1902044)|response to cytokine (GO:0034097)|response to interferon-gamma (GO:0034341)|response to retinoic acid (GO:0032526)|response to type I interferon (GO:0034340)|retinoic acid receptor signaling pathway (GO:0048384)|telomere maintenance (GO:0000723)|transcription, DNA-templated (GO:0006351)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nuclear periphery (GO:0034399)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|protein domain specific binding (GO:0019904)|protein homodimerization activity (GO:0042803)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(4)|upper_aerodigestive_tract(1)	25		Renal(207;0.0112)|all_lung(227;0.0335)|all_hematologic(139;0.0749)|Lung NSC(271;0.142)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		AAAGATGAAAATATTAATTTT	0.408																																						ENST00000264052.5																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(4)|upper_aerodigestive_tract(1)	25						c.(1789-1791)aAt>aGt		SP100 nuclear antigen							111	119	117					2																	231368925		2203	4300	6503	SO:0001583	missense	6672				DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|interspecies interaction between organisms|negative regulation of cellular component movement|negative regulation of DNA binding|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|negative regulation of viral transcription|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to cytokine stimulus|response to retinoic acid|response to type I interferon	cytoplasm|nuclear periphery|nucleolus|PML body	chromo shadow domain binding|DNA binding|identical protein binding|kinase binding|protein homodimerization activity|transcription coactivator activity|transcription corepressor activity|transcription factor binding	g.chr2:231368925A>G	AF056322	CCDS2477.1, CCDS42832.1, CCDS56170.1, CCDS56171.1, CCDS56172.1, CCDS56173.1	2q37.1	2013-01-28	2005-11-30		ENSG00000067066	ENSG00000067066		"Zinc fingers, PHD-type"	11206	protein-coding gene	gene with protein product		604585	"nuclear antigen Sp100"			2258622, 8695863	Standard	NM_001080391		Approved		uc002vqu.1	P23497	OTTHUMG00000133203	ENST00000264052.5:c.1790A>G	2.37:g.231368925A>G	ENSP00000264052:p.Asn597Ser					SP100_ENST00000340126.4_Missense_Mutation_p.N597S|SP100_ENST00000409112.1_Missense_Mutation_p.N597S	p.N597S	NM_003113.3	NP_003104.2	P23497	SP100_HUMAN		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)	21	2145	+		Renal(207;0.0112)|all_lung(227;0.0335)|all_hematologic(139;0.0749)|Lung NSC(271;0.142)|Acute lymphoblastic leukemia(138;0.167)	597			SAND.		B4DDX5|B8ZZD8|E7EUA7|E9PH61|F8WFE2|O75450|Q13343|Q8TE34|Q96F70|Q96T24|Q96T95|Q9NP33|Q9UE32	Missense_Mutation	SNP	ENST00000264052.5	37	c.1790A>G	CCDS2477.1	.	.	.	.	.	.	.	.	.	.	A	10.38	1.335511	0.24253	.	.	ENSG00000067066	ENST00000264052;ENST00000409112;ENST00000340126;ENST00000414648	T;T;T	0.71341	-0.56;-0.56;-0.56	4.54	0.62	0.17637	SAND domain-like (2);SAND domain (2);	1.185050	0.06571	N	0.748647	T	0.51500	0.1678	N	0.19112	0.55	0.09310	N	1	P;P;P	0.38551	0.551;0.636;0.606	B;B;B	0.40602	0.189;0.334;0.287	T	0.38972	-0.9636	10	0.18276	T	0.48	.	1.5401	0.02554	0.5509:0.18:0.0961:0.1731	.	597;597;597	P23497-4;P23497;E7EUA7	.;SP100_HUMAN;.	S	597;597;597;80	ENSP00000264052:N597S;ENSP00000386427:N597S;ENSP00000343023:N597S	ENSP00000264052:N597S	N	+	2	0	SP100	231077169	0.000000	0.05858	0.001000	0.08648	0.033000	0.12548	-0.310000	0.08135	0.103000	0.17682	-0.290000	0.09829	AAT		0.408	SP100-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256914.2	NM_003113		5	139	0	0	0	1	0	5	139					G	231368925	A	G	231368925	3	3	108	1	0	0	0	0	1	0	0	0	14960	101	4	4	1872	4	SP100	2	231368925	Missense_Mutation	SNP	A	TCGA-EJ-8470-01A-11D-2395-08	27063240	231368925	11830448	5	5885											
DNAH1	25981	broad.mit.edu	37	chr3	52420237	52420237	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gacagaggagatcaaagccaAtgagaaggccaagaaggcac	18	2	13	8	0	1	4	1	1	0	4	1	7	1	4	2	3	1	1	2	3	5	0			TCGA-EJ-8470-01A-11D-2395-08	TCGA-EJ-8470-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5303fe3d-a1df-4e49-9fe3-94d7daf30ab1	7dccc1c4-8cb2-47b1-8383-93623cc51068	g.chr3:52420237A>G	ENST00000420323.2	+	55	8948	c.8687A>G	c.(8686-8688)aAt>aGt	p.N2896S		NM_015512.4	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	2896	Stalk. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|response to mechanical stimulus (GO:0009612)	axonemal dynein complex (GO:0005858)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		ATCAAAGCCAATGAGAAGGCC	0.597																																						ENST00000420323.2																			0				cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62						c.(8686-8688)aAt>aGt		dynein, axonemal, heavy chain 1							62	71	68					3																	52420237		2127	4239	6366	SO:0001583	missense	25981				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr3:52420237A>G	U61738	CCDS46842.1	3p21-p14	2008-02-05	2006-09-04		ENSG00000114841	ENSG00000114841		"Axonemal dyneins"	2940	protein-coding gene	gene with protein product		603332	"dynein, axonemal, heavy polypeptide 1"			8812413, 9256245	Standard	NM_015512		Approved	XLHSRF-1, DNAHC1, HDHC7, HL-11, HL11	uc011bef.2	Q9P2D7	OTTHUMG00000158378	ENST00000420323.2:c.8687A>G	3.37:g.52420237A>G	ENSP00000401514:p.Asn2896Ser						p.N2896S	NM_015512.4	NP_056327.4	Q9P2D7	DYH1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	55	8948	+			2896			Stalk (By similarity).		B0I1R6|O00436|O15435|O95491|Q6ZU48|Q86YK7|Q8TEJ4|Q92863|Q9H8E6|Q9UFW6|Q9Y4Z7	Missense_Mutation	SNP	ENST00000420323.2	37	c.8687A>G	CCDS46842.1	.	.	.	.	.	.	.	.	.	.	A	11.22	1.575848	0.28092	.	.	ENSG00000114841	ENST00000420323	T	0.73789	-0.78	4.68	4.68	0.58851	.	0.179848	0.35615	N	0.003093	T	0.56499	0.1989	N	0.21142	0.635	0.30488	N	0.771636	B	0.06786	0.001	B	0.15052	0.012	T	0.49447	-0.8939	10	0.10111	T	0.7	.	10.4504	0.44518	0.8367:0.1633:0.0:0.0	.	2896	C9JXH6	.	S	2896	ENSP00000401514:N2896S	ENSP00000401514:N2896S	N	+	2	0	DNAH1	52395277	0.995000	0.38212	0.990000	0.47175	0.974000	0.67602	3.446000	0.52928	1.955000	0.56771	0.460000	0.39030	AAT		0.597	DNAH1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350816.1	NM_015512		9	54	0	0	0	1	0	9	54					G	52420237	A	G	52420237	3	3	108	1	0	0	0	0	1	0	0	0	4597	101	4	4	8901	4	DNAH1	3	52420237	Missense_Mutation	SNP	A	TCGA-EJ-8470-01A-11D-2395-08		52420237	145602193	6	5886											
GABRB1	2560	broad.mit.edu	37	chr4	47427733	47427733	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctcagcaccctggaaatcCggaatgagacgagtggctcg	10	7	12	12	3	1	1	1	1	0	1	4	5	3	3	3	3	1	2	3	3	2	0	rs369644137		TCGA-EJ-8470-01A-11D-2395-08	TCGA-EJ-8470-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5303fe3d-a1df-4e49-9fe3-94d7daf30ab1	7dccc1c4-8cb2-47b1-8383-93623cc51068	g.chr4:47427733C>T	ENST00000295454.3	+	9	1415	c.1123C>T	c.(1123-1125)Cgg>Tgg	p.R375W	GABRB1_ENST00000538619.1_Missense_Mutation_p.R305W	NM_000812.3	NP_000803.2	P18505	GBRB1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 1	375					cellular response to histamine (GO:0071420)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|GABA-A receptor complex (GO:1902711)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)|ligand-gated ion channel activity (GO:0015276)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44					Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Gamma Hydroxybutyric Acid(DB01440)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lindane(DB00431)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	CCTGGAAATCCGGAATGAGAC	0.562																																						ENST00000295454.3																			0				central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						c.(1123-1125)Cgg>Tgg		gamma-aminobutyric acid (GABA) A receptor, beta 1	Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	C	TRP/ARG	0,4406		0,0,2203	74	74	74		1123	0	1	4		74	1,8599	1.2+/-3.3	0,1,4299	no	missense	GABRB1	NM_000812.3	101	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	375/475	47427733	1,13005	2203	4300	6503	SO:0001583	missense	2560				synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chr4:47427733C>T		CCDS3474.1	4p12	2012-06-22			ENSG00000163288	ENSG00000163288		"GABA receptors", "Ligand-gated ion channels / GABA(A) receptors"	4081	protein-coding gene	gene with protein product	"GABA(A) receptor, beta 1"	137190					Standard	NM_000812		Approved		uc003gxh.3	P18505	OTTHUMG00000044269	ENST00000295454.3:c.1123C>T	4.37:g.47427733C>T	ENSP00000295454:p.Arg375Trp					GABRB1_ENST00000538619.1_Missense_Mutation_p.R305W	p.R375W	NM_000812.3	NP_000803.2	P18505	GBRB1_HUMAN			9	1415	+			375					B2R6U7|D6REL3|Q16166|Q8TBK3	Missense_Mutation	SNP	ENST00000295454.3	37	c.1123C>T	CCDS3474.1	.	.	.	.	.	.	.	.	.	.	C	17.57	3.423245	0.62733	0.0	1.16E-4	ENSG00000163288	ENST00000295454;ENST00000538619	D;D	0.86030	-2.06;-2.06	5.48	0.0286	0.14159	Neurotransmitter-gated ion-channel transmembrane domain (2);	1.971540	0.02549	N	0.095469	D	0.90882	0.7135	M	0.63843	1.955	0.38401	D	0.94566	P;D	0.76494	0.952;0.999	P;P	0.57846	0.764;0.828	T	0.81398	-0.0951	10	0.72032	D	0.01	-17.21	16.4545	0.84008	0.4141:0.5859:0.0:0.0	.	305;375	F5GXV5;P18505	.;GBRB1_HUMAN	W	375;305	ENSP00000295454:R375W;ENSP00000440330:R305W	ENSP00000295454:R375W	R	+	1	2	GABRB1	47122490	1.000000	0.71417	0.991000	0.47740	0.783000	0.44284	1.426000	0.34870	-0.099000	0.12263	-0.271000	0.10264	CGG		0.562	GABRB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216896.1			8	166	0	0	0	1	0	8	166					T	47427733	C	T	47427733	3	4	108	1	0	0	0	0	1	0	0	0	6166	643	23	2	1157	2	GABRB1	4	47427733	Missense_Mutation	SNP	C	TCGA-EJ-8470-01A-11D-2395-08		47427733	143726543	7	5887											
PCDHA12	56137	broad.mit.edu	37	chr5	140256667	140256667	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgcagttccaggtgagcgCgcgcgacgccggcgtgccgc	4	5	17	15	8	0	1	0	1	0	0	1	2	1	1	3	2	3	3	3	2	0	1			TCGA-EJ-8470-01A-11D-2395-08	TCGA-EJ-8470-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5303fe3d-a1df-4e49-9fe3-94d7daf30ab1	7dccc1c4-8cb2-47b1-8383-93623cc51068	g.chr5:140256667C>T	ENST00000398631.2	+	1	1610	c.1610C>T	c.(1609-1611)gCg>gTg	p.A537V	PCDHA6_ENST00000529310.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron	NM_018903.2|NM_031864.2	NP_061726.1|NP_114070.1	Q9UN75	PCDAC_HUMAN	protocadherin alpha 12	537	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(4)|breast(2)|cervix(1)|endometrium(19)|kidney(8)|large_intestine(8)|liver(2)|lung(25)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAGGTGAGCGCGCGCGACGCC	0.687																																					Pancreas(113;759 1672 13322 24104 50104)	ENST00000398631.2																			0				NS(4)|breast(2)|cervix(1)|endometrium(19)|kidney(8)|large_intestine(8)|liver(2)|lung(25)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	78						c.(1609-1611)gCg>gTg									75	83	81					5																	140256667		2203	4298	6501	SO:0001583	missense	0							g.chr5:140256667C>T	AF152477	CCDS47285.1, CCDS75327.1	5q31	2010-11-26			ENSG00000251664	ENSG00000251664		"Cadherins / Protocadherins : Clustered"	8666	other	complex locus constituent	"KIAA0345-like 2"	606318				10380929	Standard	NM_018903		Approved	PCDH-ALPHA12	uc003lic.2	Q9UN75	OTTHUMG00000163366	ENST00000398631.2:c.1610C>T	5.37:g.140256667C>T	ENSP00000381628:p.Ala537Val					PCDHA11_ENST00000398640.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA10_ENST00000506939.2_Intron	p.A537V	NM_018903.2|NM_031864.1	NP_061726.1|NP_114070.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1610	+								O75278|Q2M1N8	Missense_Mutation	SNP	ENST00000398631.2	37	c.1610C>T	CCDS47285.1	.	.	.	.	.	.	.	.	.	.	C	29.1	4.980305	0.92982	.	.	ENSG00000251664	ENST00000398631	T	0.73363	-0.74	4.92	4.92	0.64577	Cadherin (5);Cadherin-like (1);	.	.	.	.	D	0.85779	0.5776	M	0.78801	2.425	0.48395	D	0.999642	D;D	0.71674	0.986;0.998	D;P	0.65573	0.936;0.787	D	0.87917	0.2701	9	0.72032	D	0.01	.	17.695	0.88278	0.0:1.0:0.0:0.0	.	537;537	Q9UN75-2;Q9UN75	.;PCDAC_HUMAN	V	537	ENSP00000381628:A537V	ENSP00000381628:A537V	A	+	2	0	PCDHA12	140236851	0.906000	0.30813	1.000000	0.80357	0.859000	0.49053	1.874000	0.39568	2.271000	0.75665	0.561000	0.74099	GCG		0.687	PCDHA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372882.2	NM_018903		7	336	0	0	0	1	0	7	336					T	140256667	C	T	140256667	3	4	108	1	0	0	0	0	1	0	0	0	11522	768	27	1	1612	1	PCDHA12	5	140256667	Missense_Mutation	SNP	C	TCGA-EJ-8470-01A-11D-2395-08		140256667	40658593	8	5888											
PCDHB6	56130	broad.mit.edu	37	chr5	140531282	140531282	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acagagactcaggcatcaacGcccaggtcacctactcgctg	11	6	9	15	2	3	1	3	0	0	1	4	2	3	1	2	2	2	2	2	2	2	1			TCGA-EJ-8470-01A-11D-2395-08	TCGA-EJ-8470-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5303fe3d-a1df-4e49-9fe3-94d7daf30ab1	7dccc1c4-8cb2-47b1-8383-93623cc51068	g.chr5:140531282G>A	ENST00000231136.1	+	1	1444	c.1444G>A	c.(1444-1446)Gcc>Acc	p.A482T	PCDHB6_ENST00000543635.1_Missense_Mutation_p.A346T	NM_018939.2	NP_061762.1	Q9Y5E3	PCDB6_HUMAN	protocadherin beta 6	482	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AGGCATCAACGCCCAGGTCAC	0.642																																						ENST00000231136.1																			0				cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84						c.(1444-1446)Gcc>Acc									104	113	110					5																	140531282		2203	4300	6503	SO:0001583	missense	0				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	g.chr5:140531282G>A	AF152499	CCDS4248.1	5q31	2010-01-26			ENSG00000113211	ENSG00000113211		"Cadherins / Protocadherins : Clustered"	8691	other	protocadherin		606332				10380929	Standard	NM_018939		Approved	PCDH-BETA6	uc003lir.3	Q9Y5E3	OTTHUMG00000129623	ENST00000231136.1:c.1444G>A	5.37:g.140531282G>A	ENSP00000231136:p.Ala482Thr					PCDHB6_ENST00000543635.1_Missense_Mutation_p.A346T	p.A482T	NM_018939.2	NP_061762.1	Q9Y5E3	PCDB6_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1444	+			482			Cadherin 5.		B2R8R9	Missense_Mutation	SNP	ENST00000231136.1	37	c.1444G>A	CCDS4248.1	.	.	.	.	.	.	.	.	.	.	G	27.9	4.871566	0.91587	.	.	ENSG00000113211	ENST00000543635;ENST00000231136;ENST00000542861	T;T	0.52295	0.67;0.67	4.27	4.27	0.50696	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.73666	0.3616	M	0.90814	3.15	0.42575	D	0.993193	D	0.76494	0.999	D	0.68353	0.957	T	0.82086	-0.0631	9	0.87932	D	0	.	17.1391	0.86748	0.0:0.0:1.0:0.0	.	482	Q9Y5E3	PCDB6_HUMAN	T	346;482;267	ENSP00000438466:A346T;ENSP00000231136:A482T	ENSP00000231136:A482T	A	+	1	0	PCDHB6	140511466	0.979000	0.34478	1.000000	0.80357	0.944000	0.59088	5.595000	0.67563	2.095000	0.63458	0.556000	0.70494	GCC		0.642	PCDHB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251818.2	NM_018939		14	529	0	0	0	1	0	14	529					A	140531282	G	A	140531282	3	1	108	1	0	0	0	0	1	0	0	0	11546	1087	38	1	1446	1	PCDHB6	5	140531282	Missense_Mutation	SNP	G	TCGA-EJ-8470-01A-11D-2395-08	274615	140531282	40383978	9	5889											
PCDHB16	57717	broad.mit.edu	37	chr5	140563584	140563584	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acagagactcaggcaccaacGcccaggtcacctactcgctg	11	5	9	16	2	2	1	2	0	0	1	3	2	2	1	3	2	2	2	3	2	2	1			TCGA-EJ-8470-01A-11D-2395-08	TCGA-EJ-8470-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5303fe3d-a1df-4e49-9fe3-94d7daf30ab1	7dccc1c4-8cb2-47b1-8383-93623cc51068	g.chr5:140563584G>A	ENST00000361016.2	+	1	2605	c.1450G>A	c.(1450-1452)Gcc>Acc	p.A484T		NM_020957.1	NP_066008.1	Q9NRJ7	PCDBG_HUMAN	protocadherin beta 16	484	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.A484T(1)		breast(1)|endometrium(10)|kidney(3)|large_intestine(14)|lung(29)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|urinary_tract(1)	69			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AGGCACCAACGCCCAGGTCAC	0.652																																						ENST00000361016.2																			1	Substitution - Missense(1)	p.A484T(1)	endometrium(1)	breast(1)|endometrium(10)|kidney(3)|large_intestine(14)|lung(29)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|urinary_tract(1)	69						c.(1450-1452)Gcc>Acc									52	49	50					5																	140563584		2203	4277	6480	SO:0001583	missense	0				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140563584G>A	AF217757	CCDS4251.1	5q31	2014-04-11			ENSG00000196963			"Cadherins / Protocadherins : Clustered"	14546	other	protocadherin	"cadherin ME1", "protocadherin-3x", "PCDHbeta 16"	606345				11230163, 11322959	Standard	NM_020957		Approved	PCDHB8a, PCDH3X, KIAA1621, PCDH-BETA16, ME1	uc003liv.3	Q9NRJ7	OTTHUMG00000188325	ENST00000361016.2:c.1450G>A	5.37:g.140563584G>A	ENSP00000354293:p.Ala484Thr						p.A484T	NM_020957.1	NP_066008.1	Q9NRJ7	PCDBG_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	2605	+			484			Cadherin 5.		B3KPK5|Q8IYD5|Q96SE9|Q9HCF1	Missense_Mutation	SNP	ENST00000361016.2	37	c.1450G>A	CCDS4251.1	.	.	.	.	.	.	.	.	.	.	g	23.8	4.456235	0.84317	.	.	ENSG00000196963	ENST00000361016	T	0.52295	0.67	4.26	3.37	0.38596	Cadherin (4);Cadherin-like (1);	0.245989	0.21125	N	0.079745	T	0.75110	0.3805	H	0.95004	3.61	0.30726	N	0.747701	D	0.89917	1.0	D	0.71656	0.974	T	0.79470	-0.1790	10	0.87932	D	0	.	13.2084	0.59811	0.0:0.0:0.8399:0.1601	.	484	Q9NRJ7	PCDBG_HUMAN	T	484	ENSP00000354293:A484T	ENSP00000354293:A484T	A	+	1	0	PCDHB16	140543768	0.996000	0.38824	0.995000	0.50966	0.702000	0.40608	3.759000	0.55227	0.760000	0.33108	0.580000	0.79431	GCC		0.652	PCDHB16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251800.1	NM_020957		82	349	0	0	0	1	0	82	349					A	140563584	G	A	140563584	3	1	108	1	0	0	0	0	1	0	0	0	11541	1087	38	1	1452	1	PCDHB16	5	140563584	Missense_Mutation	SNP	G	TCGA-EJ-8470-01A-11D-2395-08	32302	140563584	40351676	10	5890											
ZNF165	7718	broad.mit.edu	37	chr6	28057219	28057219	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	accttagtcaacaccagagaAttcacatgagggaaaaccta	17	7	7	10	0	2	2	2	1	0	1	2	4	2	3	3	1	2	0	3	1	6	3			TCGA-EJ-8470-01A-11D-2395-08	TCGA-EJ-8470-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5303fe3d-a1df-4e49-9fe3-94d7daf30ab1	7dccc1c4-8cb2-47b1-8383-93623cc51068	g.chr6:28057219A>C	ENST00000377325.1	+	4	1985	c.1429A>C	c.(1429-1431)Att>Ctt	p.I477L	ZSCAN12P1_ENST00000529104.1_RNA	NM_003447.3	NP_003438.1	P49910	ZN165_HUMAN	zinc finger protein 165	477					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(14)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						ACACCAGAGAATTCACATGAG	0.333																																						ENST00000377325.1																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(14)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(1429-1431)Att>Ctt		zinc finger protein 165							52	56	55					6																	28057219		2203	4300	6503	SO:0001583	missense	7718				viral reproduction	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr6:28057219A>C	U78722	CCDS4643.1	6p21	2013-01-09			ENSG00000197279	ENSG00000197279		"-", "Zinc fingers, C2H2-type"	12953	protein-coding gene	gene with protein product	"cancer/testis antigen 53"	600834				7490084	Standard	NM_003447		Approved	ZSCAN7, CT53	uc021yro.1	P49910	OTTHUMG00000014505	ENST00000377325.1:c.1429A>C	6.37:g.28057219A>C	ENSP00000366542:p.Ile477Leu						p.I477L	NM_003447.3	NP_003438.1	P49910	ZN165_HUMAN			4	1985	+			477						Missense_Mutation	SNP	ENST00000377325.1	37	c.1429A>C	CCDS4643.1	.	.	.	.	.	.	.	.	.	.	A	14.24	2.475881	0.44044	.	.	ENSG00000197279	ENST00000377325	T	0.04502	3.61	2.61	2.61	0.31194	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.02083	0.0065	L	0.32530	0.975	0.26015	N	0.981931	P	0.51791	0.948	P	0.44623	0.455	T	0.47824	-0.9087	9	0.51188	T	0.08	.	9.8275	0.40921	1.0:0.0:0.0:0.0	.	477	P49910	ZN165_HUMAN	L	477	ENSP00000366542:I477L	ENSP00000366542:I477L	I	+	1	0	ZNF165	28165198	0.164000	0.22935	1.000000	0.80357	0.974000	0.67602	3.164000	0.50770	1.218000	0.43458	0.477000	0.44152	ATT		0.333	ZNF165-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040173.1	NM_003447		30	67	0	0	0	1	0	30	67					C	28057219	A	C	28057219	3	2	108	1	0	0	0	0	1	0	0	0	17737	101	4	5	1439	5	ZNF165	6	28057219	Missense_Mutation	SNP	A	TCGA-EJ-8470-01A-11D-2395-08		28057219	143057848	11	5891											
NCR2	9436	broad.mit.edu	37	chr6	41304075	41304075	+	Frame_Shift_Del	DEL	G	G	-																															accatgactgatctgagagaGgaagactcaggacattactg																										TCGA-EJ-8470-01A-11D-2395-08	TCGA-EJ-8470-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5303fe3d-a1df-4e49-9fe3-94d7daf30ab1	7dccc1c4-8cb2-47b1-8383-93623cc51068	g.chr6:41304075delG	ENST00000373089.5	+	2	391	c.303delG	c.(301-303)gagfs	p.E102fs	NCR2_ENST00000373083.4_Frame_Shift_Del_p.E102fs|NCR2_ENST00000373086.3_Frame_Shift_Del_p.E102fs	NM_004828.3	NP_004819.2	O95944	NCTR2_HUMAN	natural cytotoxicity triggering receptor 2	102	Ig-like.				cellular defense response (GO:0006968)|innate immune response (GO:0045087)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(1)	14	Ovarian(28;0.0327)|Colorectal(47;0.196)					ATCTGAGAGAGGAAGACTCAG	0.517																																						ENST00000373083.4																			0				NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(1)	14						c.(301-303)gafs		natural cytotoxicity triggering receptor 2							95	88	90					6																	41304075		2203	4300	6503	SO:0001589	frameshift_variant	9436				cellular defense response	integral to plasma membrane	transmembrane receptor activity	g.chr6:41304075delG	AJ225109	CCDS4855.1, CCDS56428.1, CCDS56429.1	6p21.1	2013-01-11	2002-11-13	2002-11-15	ENSG00000096264	ENSG00000096264		"CD molecules", "Immunoglobulin superfamily / V-set domain containing"	6732	protein-coding gene	gene with protein product		604531	"lymphocyte antigen 95 (activating NK-receptor; NK-p44)"	LY95		10049942	Standard	NM_004828		Approved	NK-p44, CD336	uc003oqh.2	O95944	OTTHUMG00000014678	ENST00000373089.5:c.303delG	6.37:g.41304075delG	ENSP00000362181:p.Glu102fs					NCR2_ENST00000373086.3_Frame_Shift_Del_p.E102fs|NCR2_ENST00000373089.5_Frame_Shift_Del_p.E102fs	p.E102fs	NM_001199510.1	NP_001186439.1	O95944	NCTR2_HUMAN			2	525	+	Ovarian(28;0.0327)|Colorectal(47;0.196)		102			Ig-like.		Q9H562|Q9H563|Q9H564|Q9UMT1|Q9UMT2	Frame_Shift_Del	DEL	ENST00000373089.5	37	c.303delG	CCDS4855.1																																																																																				0.517	NCR2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040511.3			7	189						7	189	---	---	---	---	-	41304075	G	-	41304075	7	5	108	1	0	1	0	1	0	0	0	0	10238	991	35	0	309	0	NCR2	6	41304075	Frame_Shift_Del	DEL	G	TCGA-EJ-8470-01A-11D-2395-08	13246856	41304075	129810992	12	5892											
FOXP2	93986	broad.mit.edu	37	chr7	114299484	114299484	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	acttatgcaactctcataagGcaggtaagtagaaggaaaat	17	9	9	6	0	1	1	1	0	1	1	2	2	1	2	0	3	2	4	0	3	8	4			TCGA-EJ-8470-01A-11D-2395-08	TCGA-EJ-8470-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5303fe3d-a1df-4e49-9fe3-94d7daf30ab1	7dccc1c4-8cb2-47b1-8383-93623cc51068	g.chr7:114299484G>C	ENST00000393494.2	+	12	1821	c.1542G>C	c.(1540-1542)agG>agC	p.R514S	FOXP2_ENST00000393489.3_Missense_Mutation_p.R422S|FOXP2_ENST00000393498.2_Missense_Mutation_p.R493S|FOXP2_ENST00000350908.4_Missense_Mutation_p.R514S|FOXP2_ENST00000403559.4_Missense_Mutation_p.R531S|FOXP2_ENST00000408937.3_Missense_Mutation_p.R539S|FOXP2_ENST00000393500.3_3'UTR|FOXP2_ENST00000393491.3_Intron			O15409	FOXP2_HUMAN	forkhead box P2	514					camera-type eye development (GO:0043010)|caudate nucleus development (GO:0021757)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|growth (GO:0040007)|lung alveolus development (GO:0048286)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of epithelial cell proliferation involved in lung morphogenesis (GO:0060501)|positive regulation of mesenchymal cell proliferation (GO:0002053)|post-embryonic development (GO:0009791)|putamen development (GO:0021758)|righting reflex (GO:0060013)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|vocal learning (GO:0042297)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						CTCTCATAAGGCAGGTAAGTA	0.303																																						ENST00000408937.3																			0				breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						c.(1615-1617)agG>agC		forkhead box P2							66	71	70					7																	114299484		2202	4299	6501	SO:0001583	missense	93986				camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding	g.chr7:114299484G>C	U80741	CCDS5760.1, CCDS5761.1, CCDS43635.1, CCDS5761.2, CCDS55154.1	7q31	2008-07-18			ENSG00000128573	ENSG00000128573		"Forkhead boxes"	13875	protein-coding gene	gene with protein product	"trinucleotide repeat containing 10", "forkhead/winged-helix transcription factor", "speech and language disorder 1", "CAG repeat protein 44"	605317		TNRC10, SPCH1		11586359, 9225980	Standard	NM_014491		Approved	CAGH44	uc003vgz.3	O15409	OTTHUMG00000023131	ENST00000393494.2:c.1542G>C	7.37:g.114299484G>C	ENSP00000377132:p.Arg514Ser					FOXP2_ENST00000393494.2_Missense_Mutation_p.R514S|FOXP2_ENST00000393489.3_Missense_Mutation_p.R422S|FOXP2_ENST00000393500.3_3'UTR|FOXP2_ENST00000350908.4_Missense_Mutation_p.R514S|FOXP2_ENST00000393498.2_Missense_Mutation_p.R493S|FOXP2_ENST00000393491.3_Intron|FOXP2_ENST00000403559.4_Missense_Mutation_p.R531S	p.R539S	NM_001172766.2|NM_014491.3|NM_148898.3	NP_001166237.1|NP_055306.1|NP_683696.2	O15409	FOXP2_HUMAN			13	1991	+			514					A0AUV6|A4D0U8|A6NNW4|B4DLD9|Q6ZND1|Q75MJ3|Q8IZE0|Q8N0W2|Q8N6B7|Q8N6B8|Q8NFQ1|Q8NFQ2|Q8NFQ3|Q8NFQ4|Q8TD74	Missense_Mutation	SNP	ENST00000393494.2	37	c.1617G>C	CCDS5760.1	.	.	.	.	.	.	.	.	.	.	G	17.90	3.502492	0.64298	.	.	ENSG00000128573	ENST00000393494;ENST00000408937;ENST00000403559;ENST00000350908;ENST00000393498;ENST00000393489	D;D;D;D;D	0.95238	-3.65;-3.65;-3.65;-3.65;-3.65	5.96	5.96	0.96718	Winged helix-turn-helix transcription repressor DNA-binding (1);Transcription factor, fork head (4);	0.000000	0.85682	D	0.000000	D	0.96222	0.8768	L	0.45285	1.41	0.80722	D	1	D;D;D;D	0.59357	0.985;0.985;0.985;0.981	D;D;D;D	0.69824	0.966;0.966;0.966;0.962	D	0.96266	0.9195	10	0.87932	D	0	.	20.4043	0.99006	0.0:0.0:1.0:0.0	.	513;531;514;539	B7ZLK5;B4DLD9;O15409;O15409-4	.;.;FOXP2_HUMAN;.	S	514;539;531;514;491;422	ENSP00000377132:R514S;ENSP00000386200:R539S;ENSP00000385069:R531S;ENSP00000265436:R514S;ENSP00000377129:R422S	ENSP00000265436:R514S	R	+	3	2	FOXP2	114086720	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.450000	0.73477	2.823000	0.97156	0.650000	0.86243	AGG		0.303	FOXP2-014	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317366.1	NM_014491		27	98	0	0	0	1	0	27	98					C	114299484	G	C	114299484	3	2	108	1	0	0	0	0	1	0	0	0	6027	1194	42	5	1751	5	FOXP2	7	114299484	Missense_Mutation	SNP	G	TCGA-EJ-8470-01A-11D-2395-08		114299484	44839179	13	5893											
CLDN23	137075	broad.mit.edu	37	chr8	8560665	8560665	+	Frame_Shift_Del	DEL	C	C	-																															gcttccccatgccgcggccgCggcccaaggcctacaccaac																										TCGA-EJ-8470-01A-11D-2395-08	TCGA-EJ-8470-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5303fe3d-a1df-4e49-9fe3-94d7daf30ab1	7dccc1c4-8cb2-47b1-8383-93623cc51068	g.chr8:8560665delC	ENST00000519106.1	+	1	1218	c.757delC	c.(757-759)cggfs	p.R253fs		NM_194284.2	NP_919260.2	Q96B33	CLD23_HUMAN	claudin 23	253					calcium-independent cell-cell adhesion (GO:0016338)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|tight junction assembly (GO:0070830)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	identical protein binding (GO:0042802)|structural molecule activity (GO:0005198)			endometrium(2)	2		Hepatocellular(245;0.217)		COAD - Colon adenocarcinoma(149;0.071)|READ - Rectum adenocarcinoma(644;0.238)		GCCGCGGCCGCGGCCCAAGGC	0.706																																						ENST00000519106.1																			0				endometrium(2)	2						c.(757-759)ggfs		claudin 23							5	8	7					8																	8560665		1879	3938	5817	SO:0001589	frameshift_variant	137075				calcium-independent cell-cell adhesion|tight junction assembly	integral to membrane|tight junction	identical protein binding|structural molecule activity	g.chr8:8560665delC	AK123547	CCDS55195.1	8p23.1	2006-04-12				ENSG00000253958		"Claudins"	17591	protein-coding gene	gene with protein product		609203				12736707	Standard	NM_194284		Approved	CLDNL	uc003wsi.3	Q96B33		ENST00000519106.1:c.757delC	8.37:g.8560665delC	ENSP00000428780:p.Arg253fs						p.R253fs	NM_194284.2	NP_919260.2	Q96B33	CLD23_HUMAN		COAD - Colon adenocarcinoma(149;0.071)|READ - Rectum adenocarcinoma(644;0.238)	1	1218	+		Hepatocellular(245;0.217)	253					Q08AJ3	Frame_Shift_Del	DEL	ENST00000519106.1	37	c.757delC	CCDS55195.1																																																																																				0.706	CLDN23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374721.1	NM_194284		3	6						3	6	---	---	---	---	-	8560665	C	-	8560665	7	5	108	1	0	1	0	1	0	0	0	0	3484	759	27	0	759	0	CLDN23	8	8560665	Frame_Shift_Del	DEL	C	TCGA-EJ-8470-01A-11D-2395-08		8560665	137803357	14	5894											
UTP23	84294	broad.mit.edu	37	chr8	117783946	117783946	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ataagtggtcccaatcctctTagttgtttgaagaaaaagaa	15	12	8	6	0	1	3	0	1	1	2	3	3	3	3	2	1	0	2	2	1	7	4			TCGA-EJ-8470-01A-11D-2395-08	TCGA-EJ-8470-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5303fe3d-a1df-4e49-9fe3-94d7daf30ab1	7dccc1c4-8cb2-47b1-8383-93623cc51068	g.chr8:117783946T>A	ENST00000309822.2	+	3	716	c.615T>A	c.(613-615)ctT>ctA	p.L205L	UTP23_ENST00000517820.1_Intron|UTP23_ENST00000520733.1_Intron|UTP23_ENST00000357148.3_Intron	NM_032334.2	NP_115710.2	Q9BRU9	UTP23_HUMAN	UTP23, small subunit (SSU) processome component, homolog (yeast)	205					rRNA processing (GO:0006364)	nucleus (GO:0005634)|small-subunit processome (GO:0032040)	poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1)	12						CCAATCCTCTTAGTTGTTTGA	0.358																																						ENST00000309822.2																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1)	12						c.(613-615)ctT>ctA		UTP23, small subunit (SSU) processome component, homolog (yeast)							47	49	48					8																	117783946		2203	4300	6503	SO:0001819	synonymous_variant	84294				rRNA processing	nucleolus		g.chr8:117783946T>A		CCDS6320.1	8q24.11	2008-06-12	2008-06-12	2008-06-12		ENSG00000147679			28224	protein-coding gene	gene with protein product			"chromosome 8 open reading frame 53"	C8orf53		16769905	Standard	NM_032334		Approved	MGC14595	uc003yoc.3	Q9BRU9		ENST00000309822.2:c.615T>A	8.37:g.117783946T>A						UTP23_ENST00000517820.1_Intron|UTP23_ENST00000357148.3_Intron|UTP23_ENST00000520733.1_Intron	p.L205L	NM_032334.2	NP_115710.2	Q9BRU9	UTP23_HUMAN			3	716	+			205					B2RE25|Q96NJ8	Silent	SNP	ENST00000309822.2	37	c.615T>A	CCDS6320.1																																																																																				0.358	UTP23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381173.1	NM_032334		21	90	0	0	0	1	0	21	90					A	117783946	T	A	117783946	2	1	108	1	0	0	0	0	0	0	0	1	17097	1741	61	5		5	UTP23	8	117783946	Silent	SNP	T	TCGA-EJ-8470-01A-11D-2395-08	109223281	117783946	28580076	15	5895											
FKBP15	23307	broad.mit.edu	37	chr9	115962194	115962194	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	ctgccacaatgaggtcctggGagagcactgcatccagggaa	11	6	13	11	0	0	2	0	1	0	1	2	4	2	3	3	3	3	2	3	3	2	0			TCGA-EJ-8470-01A-11D-2395-08	TCGA-EJ-8470-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5303fe3d-a1df-4e49-9fe3-94d7daf30ab1	7dccc1c4-8cb2-47b1-8383-93623cc51068	g.chr9:115962194G>C	ENST00000238256.3	-	7	665	c.548C>G	c.(547-549)tCc>tGc	p.S183C		NM_015258.1	NP_056073.1	Q5T1M5	FKB15_HUMAN	FK506 binding protein 15, 133kDa	183					endocytosis (GO:0006897)|negative regulation of phosphatase activity (GO:0010923)|protein folding (GO:0006457)	actin filament (GO:0005884)|axon (GO:0030424)|endosome (GO:0005768)|growth cone (GO:0030426)|membrane (GO:0016020)				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(9)|ovary(3)|urinary_tract(1)	26						GAGGTCCTGGGAGAGCACTGC	0.488																																						ENST00000238256.3																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(9)|ovary(3)|urinary_tract(1)	26						c.(547-549)tCc>tGc		FK506 binding protein 15, 133kDa							55	54	55					9																	115962194		2016	4189	6205	SO:0001583	missense	23307				endocytosis|protein folding	axon|early endosome	actin binding	g.chr9:115962194G>C	AB014574	CCDS48007.1	9q33.1	2014-05-09	2006-10-31	2006-10-31	ENSG00000119321	ENSG00000119321		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	23397	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 76", "WASP and FKBP-like protein"		"KIAA0674"	KIAA0674		16756961, 20376207	Standard	NM_015258		Approved	PPP1R76, FKBP133, WAFL	uc004bgs.2	Q5T1M5	OTTHUMG00000020518	ENST00000238256.3:c.548C>G	9.37:g.115962194G>C	ENSP00000238256:p.Ser183Cys						p.S183C	NM_015258.1	NP_056073.1	Q5T1M5	FKB15_HUMAN			7	665	-			183					Q05DK8|Q5T1M2|Q6DD85|Q9Y4D0	Missense_Mutation	SNP	ENST00000238256.3	37	c.548C>G	CCDS48007.1	.	.	.	.	.	.	.	.	.	.	G	11.24	1.581732	0.28180	.	.	ENSG00000119321	ENST00000446284;ENST00000238256;ENST00000414250	T;T;T	0.42900	0.96;0.96;0.96	5.95	0.634	0.17718	.	.	.	.	.	T	0.25865	0.0630	L	0.31371	0.925	0.09310	N	1	B;B;B	0.11235	0.003;0.004;0.004	B;B;B	0.09377	0.004;0.004;0.003	T	0.18650	-1.0330	9	0.36615	T	0.2	-1.1946	3.8371	0.08899	0.146:0.3626:0.3737:0.1177	.	183;183;183	Q5T1M5-2;Q5T1M5-3;Q5T1M5	.;.;FKB15_HUMAN	C	208;183;208	ENSP00000416158:S208C;ENSP00000238256:S183C;ENSP00000415733:S208C	ENSP00000238256:S183C	S	-	2	0	FKBP15	115002015	0.003000	0.15002	0.111000	0.21465	0.995000	0.86356	0.528000	0.23002	0.392000	0.25172	0.655000	0.94253	TCC		0.488	FKBP15-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_015258		12	34	0	0	0	1	0	12	34					C	115962194	G	C	115962194	3	2	108	1	0	0	0	0	1	0	0	0	5905	1174	41	5	3199	5	FKBP15	9	115962194	Missense_Mutation	SNP	G	TCGA-EJ-8470-01A-11D-2395-08		115962194	25251237	16	5896											
DBH	1621	broad.mit.edu	37	chr9	136508616	136508616	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgcccccgagatggacagcGtcccccacttcagcgggccc	6	4	12	19	4	1	1	1	0	0	1	2	3	2	2	5	2	2	0	5	2	0	1			TCGA-EJ-8470-01A-11D-2395-08	TCGA-EJ-8470-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5303fe3d-a1df-4e49-9fe3-94d7daf30ab1	7dccc1c4-8cb2-47b1-8383-93623cc51068	g.chr9:136508616G>A	ENST00000393056.2	+	4	838	c.826G>A	c.(826-828)Gtc>Atc	p.V276I		NM_000787.3	NP_000778.3	P09172	DOPO_HUMAN	dopamine beta-hydroxylase (dopamine beta-monooxygenase)	276					behavioral response to ethanol (GO:0048149)|blood vessel remodeling (GO:0001974)|catecholamine biosynthetic process (GO:0042423)|cellular nitrogen compound metabolic process (GO:0034641)|cytokine production (GO:0001816)|dopamine catabolic process (GO:0042420)|fear response (GO:0042596)|glucose homeostasis (GO:0042593)|homoiothermy (GO:0042309)|leukocyte mediated immunity (GO:0002443)|leukocyte migration (GO:0050900)|locomotory behavior (GO:0007626)|maternal behavior (GO:0042711)|memory (GO:0007613)|norepinephrine biosynthetic process (GO:0042421)|positive regulation of vasoconstriction (GO:0045907)|regulation of cell proliferation (GO:0042127)|regulation of extrinsic apoptotic signaling pathway (GO:2001236)|response to amphetamine (GO:0001975)|response to pain (GO:0048265)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|secretory granule lumen (GO:0034774)	catalytic activity (GO:0003824)|copper ion binding (GO:0005507)|dopamine beta-monooxygenase activity (GO:0004500)|L-ascorbic acid binding (GO:0031418)	p.V276I(1)		central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(9)|liver(1)|lung(6)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	36				OV - Ovarian serous cystadenocarcinoma(145;2.33e-07)|Epithelial(140;1.5e-06)|all cancers(34;1.66e-05)	Disulfiram(DB00822)|Dopamine(DB00988)|Propylthiouracil(DB00550)|Vitamin C(DB00126)	GATGGACAGCGTCCCCCACTT	0.657																																						ENST00000393056.2																			1	Substitution - Missense(1)	p.V276I(1)	pancreas(1)	central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(9)|liver(1)|lung(6)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	36						c.(826-828)Gtc>Atc		dopamine beta-hydroxylase (dopamine beta-monooxygenase)	Dopamine(DB00988)|Vitamin C(DB00126)						77	76	76					9																	136508616		2203	4300	6503	SO:0001583	missense	1621				hormone biosynthetic process	chromaffin granule lumen|chromaffin granule membrane|extracellular region|integral to membrane|membrane fraction|soluble fraction|transport vesicle membrane	dopamine beta-monooxygenase activity|L-ascorbic acid binding	g.chr9:136508616G>A	X13256	CCDS6977.2	9q34	2013-06-03			ENSG00000123454	ENSG00000123454	1.14.17.1		2689	protein-coding gene	gene with protein product		609312					Standard	NM_000787		Approved	DBM	uc004cel.3	P09172	OTTHUMG00000020878	ENST00000393056.2:c.826G>A	9.37:g.136508616G>A	ENSP00000376776:p.Val276Ile						p.V276I	NM_000787.3	NP_000778.3	P09172	DOPO_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;2.33e-07)|Epithelial(140;1.5e-06)|all cancers(34;1.66e-05)	4	838	+			276					Q5T381|Q96AG2	Missense_Mutation	SNP	ENST00000393056.2	37	c.826G>A	CCDS6977.2	.	.	.	.	.	.	.	.	.	.	G	0.011	-1.699360	0.00725	.	.	ENSG00000123454	ENST00000393056;ENST00000371880;ENST00000263611	T;T	0.29917	1.55;1.55	4.9	-8.25	0.01025	Copper type II, ascorbate-dependent monooxygenase, N-terminal (2);PHM/PNGase F domain (1);	0.610624	0.17687	N	0.165404	T	0.07954	0.0199	N	0.04373	-0.215	0.19775	N	0.99995	B	0.06786	0.001	B	0.11329	0.006	T	0.25502	-1.0130	10	0.02654	T	1	-15.1191	7.9737	0.30143	0.4294:0.0:0.3685:0.2021	.	276	P09172	DOPO_HUMAN	I	276;213;213	ENSP00000376776:V276I;ENSP00000263611:V213I	ENSP00000263611:V213I	V	+	1	0	DBH	135498437	0.000000	0.05858	0.001000	0.08648	0.003000	0.03518	-1.053000	0.03500	-1.933000	0.01052	-0.410000	0.06199	GTC		0.657	DBH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054929.2	NM_000787		36	141	0	0	0	1	0	36	141					A	136508616	G	A	136508616	3	1	108	1	0	0	0	0	1	0	0	0	4250	1145	40	1	840	1	DBH	9	136508616	Missense_Mutation	SNP	G	TCGA-EJ-8470-01A-11D-2395-08	20546422	136508616	4704815	17	5897											
C10orf140	387640	broad.mit.edu	37	chr10	21805483	21805483	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cccccctcctcctcctcttcCtcctcctcctcctctccctc	0	13	0	28	0	2	0	0	0	2	0	12	0	10	0	12	0	0	0	12	0	0	1			TCGA-EJ-8470-01A-11D-2395-08	TCGA-EJ-8470-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5303fe3d-a1df-4e49-9fe3-94d7daf30ab1	7dccc1c4-8cb2-47b1-8383-93623cc51068	g.chr10:21805483C>T	ENST00000449193.2	-	4	3521	c.1269G>A	c.(1267-1269)gaG>gaA	p.E423E	SKIDA1_ENST00000444772.3_Silent_p.E344E|SKIDA1_ENST00000487107.1_5'Flank	NM_207371.3	NP_997254.3	Q1XH10	SKDA1_HUMAN	SKI/DACH domain containing 1	342						nucleus (GO:0005634)											cctcctcttcctcctcctcct	0.627																																						ENST00000449193.2																			0											c.(1267-1269)gaG>gaA		SKI/DACH domain containing 1							5	6	6					10																	21805483		2007	4123	6130	SO:0001819	synonymous_variant	387640							g.chr10:21805483C>T	AK131456	CCDS44363.1	10p12.31	2012-06-13	2012-06-13	2012-06-13	ENSG00000180592	ENSG00000180592			32697	protein-coding gene	gene with protein product			"chromosome 10 open reading frame 140"	C10orf140			Standard	NM_207371		Approved	FLJ45187	uc021pnx.1	Q1XH10	OTTHUMG00000017797	ENST00000449193.2:c.1269G>A	10.37:g.21805483C>T						SKIDA1_ENST00000444772.3_Silent_p.E344E	p.E423E	NM_207371.3	NP_997254.3					4	3521	-								B1ANA5|Q6ZMX4|Q8N3C3	Silent	SNP	ENST00000449193.2	37	c.1269G>A	CCDS44363.1																																																																																				0.627	SKIDA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286950.2	NM_207371		3	5	0	0	0	1	0	3	5					T	21805483	C	T	21805483	2	4	108	1	0	0	0	0	0	0	0	1	1595	680	24	3		3	C10orf140	10	21805483	Silent	SNP	C	TCGA-EJ-8470-01A-11D-2395-08		21805483	113729264	18	5898											
ANXA7	310	broad.mit.edu	37	chr10	75139867	75139867	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atgttaaagcaagattcatcGgtccctagtctcccctcacc	10	11	6	14	1	3	1	2	0	1	1	6	1	4	1	4	1	1	2	4	1	4	3	rs138551538	byFrequency	TCGA-EJ-8470-01A-11D-2395-08	TCGA-EJ-8470-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5303fe3d-a1df-4e49-9fe3-94d7daf30ab1	7dccc1c4-8cb2-47b1-8383-93623cc51068	g.chr10:75139867G>A	ENST00000372921.5	-	10	1067	c.1011C>T	c.(1009-1011)acC>acT	p.T337T	RP11-537A6.9_ENST00000427492.1_RNA|ANXA7_ENST00000535178.1_Silent_p.T207T	NM_001156.3	NP_001147.1	P20073	ANXA7_HUMAN	annexin A7	359					autophagy (GO:0006914)|cell proliferation (GO:0008283)|cellular calcium ion homeostasis (GO:0006874)|cellular water homeostasis (GO:0009992)|epithelial cell differentiation (GO:0030855)|hemostasis (GO:0007599)|membrane fusion (GO:0061025)|negative regulation of gene expression (GO:0010629)|regulation of cell shape (GO:0008360)|response to calcium ion (GO:0051592)|response to organic cyclic compound (GO:0014070)|response to salt stress (GO:0009651)|social behavior (GO:0035176)	cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|calcium-dependent protein binding (GO:0048306)|integrin binding (GO:0005178)|poly(A) RNA binding (GO:0044822)	p.T359T(2)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	26	Prostate(51;0.0119)					AAGATTCATCGGTCCCTAGTC	0.458																																						ENST00000372921.4																			2	Substitution - coding silent(2)	p.T359T(2)	lung(1)|endometrium(1)	breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	26						c.(1009-1011)acC>acT		annexin A7		G	,	2,4404	4.2+/-10.8	0,2,2201	243	239	240		1011,1077	-5.8	1	10	dbSNP_134	240	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous,coding-synonymous	ANXA7	NM_001156.3,NM_004034.2	,	0,4,6499	AA,AG,GG		0.0233,0.0454,0.0308	,	337/467,359/489	75139867	4,13002	2203	4300	6503	SO:0001819	synonymous_variant	310						calcium ion binding|calcium-dependent phospholipid binding|calcium-dependent protein binding	g.chr10:75139867G>A	J04543	CCDS7325.1, CCDS7326.1	10q22.2	2005-11-09			ENSG00000138279	ENSG00000138279		"Annexins"	545	protein-coding gene	gene with protein product		186360		ANX7		7515686	Standard	NM_001156		Approved		uc001jtz.2	P20073	OTTHUMG00000018463	ENST00000372921.5:c.1011C>T	10.37:g.75139867G>A						ANXA7_ENST00000535178.1_Silent_p.T207T	p.T337T	NM_001156.3	NP_001147.1	P20073	ANXA7_HUMAN			10	1067	-	Prostate(51;0.0119)		359					Q5F2H3|Q5T0M6|Q5T0M7	Silent	SNP	ENST00000372921.5	37	c.1011C>T	CCDS7325.1																																																																																				0.458	ANXA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048646.2	NM_001156		52	434	0	0	0	1	0	52	434					A	75139867	G	A	75139867	2	1	108	1	0	0	0	0	0	0	0	1	723	1103	39	2		2	ANXA7	10	75139867	Silent	SNP	G	TCGA-EJ-8470-01A-11D-2395-08	53334384	75139867	60394880	19	5899											
ZNF503	84858	broad.mit.edu	37	chr10	77161101	77161106	+	In_Frame_Del	DEL	CCGCCT	CCGCCT	-																															tccaggcagggtctgcaccgCcgcctccgcctccgccgccg																								rs533859340|rs374168185	byFrequency	TCGA-EJ-8470-01A-11D-2395-08	TCGA-EJ-8470-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5303fe3d-a1df-4e49-9fe3-94d7daf30ab1	7dccc1c4-8cb2-47b1-8383-93623cc51068	g.chr10:77161101_77161106delCCGCCT	ENST00000372524.4	-	1	558_563	c.72_77delAGGCGG	c.(70-78)ggaggcggc>ggc	p.24_26GGG>G	ZNF503-AS2_ENST00000486015.1_RNA|ZNF503-AS2_ENST00000425916.3_RNA|ZNF503_ENST00000535216.1_In_Frame_Del_p.24_26GGG>G|RP11-399K21.11_ENST00000418818.2_lincRNA|ZNF503-AS2_ENST00000466942.2_RNA	NM_032772.4	NP_116161.2	Q96F45	ZN503_HUMAN	zinc finger protein 503	24	Gly-rich.				G1 to G0 transition involved in cell differentiation (GO:0070315)|negative regulation of cell proliferation (GO:0008285)|negative regulation of gene expression (GO:0010629)|neural precursor cell proliferation (GO:0061351)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			lung(4)|ovary(1)|skin(1)	6	all_cancers(46;0.105)|all_epithelial(25;0.00449)|Prostate(51;0.0112)|Ovarian(15;0.088)					GTCTGCAccgccgcctccgcctccgc	0.718														484	0.0966454	0.3336	0.0331	5008	,	,		10238	0		0.006	False		,,,				2504	0.0143					ENST00000372524.4																			0				lung(4)|ovary(1)|skin(1)	6						c.(70-78)ggc>gg		zinc finger protein 503				455,1781		166,123,829						2.8	0		dbSNP_120	4	28,4994		4,20,2487	no	coding	ZNF503	NM_032772.4		170,143,3316	A1A1,A1R,RR		0.5575,20.3488,6.6547				483,6775				SO:0001651	inframe_deletion	84858				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	g.chr10:77161101_77161106delCCGCCT	AK127647	CCDS7350.1	10q22.3	2011-02-09			ENSG00000165655	ENSG00000165655		"Zinc fingers, C2H2-type"	23589	protein-coding gene	gene with protein product		613902				12477932	Standard	NM_032772		Approved	FLJ45745, MGC2555	uc001jxg.3	Q96F45	OTTHUMG00000018526	ENST00000372524.4:c.72_77delAGGCGG	10.37:g.77161107_77161112delCCGCCT	ENSP00000361602:p.Gly26_Gly27del					ZNF503_ENST00000535216.1_In_Frame_Del_p.GGG24del	p.GGG24del	NM_032772.4	NP_116161.2	Q96F45	ZN503_HUMAN			1	558_563	-	all_cancers(46;0.105)|all_epithelial(25;0.00449)|Prostate(51;0.0112)|Ovarian(15;0.088)		24			Gly-rich.		Q8NAC5|Q96E25|Q96IJ0	In_Frame_Del	DEL	ENST00000372524.4	37	c.72_77delAGGCGG	CCDS7350.1																																																																																				0.718	ZNF503-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048826.1	NM_032772		3	5						3	5	---	---	---	---	-	77161106	CCGCCT	-	77161101	7	5	108	1	0	1	0	1	0	0	0	0	17948	739	26	0	1871	0	ZNF503	10	77161101	In_Frame_Del	DEL	CCGCCT	TCGA-EJ-8470-01A-11D-2395-08	2021234	77161101	58373646	20	5900											
SLC25A28	81894	broad.mit.edu	37	chr10	101373523	101373523	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttttttaacttttcgtagcaGgcaaaataaagggcgtgggc	11	13	11	6	2	0	0	0	0	0	0	1	0	0	0	0	3	2	3	0	3	6	7			TCGA-EJ-8470-01A-11D-2395-08	TCGA-EJ-8470-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5303fe3d-a1df-4e49-9fe3-94d7daf30ab1	7dccc1c4-8cb2-47b1-8383-93623cc51068	g.chr10:101373523G>A	ENST00000370495.4	-	2	478	c.450C>T	c.(448-450)gcC>gcT	p.A150A	SLC25A28_ENST00000496035.1_5'UTR	NM_031212.3	NP_112489.3	Q96A46	MFRN2_HUMAN	solute carrier family 25 (mitochondrial iron transporter), member 28	150					ion transport (GO:0006811)|iron ion homeostasis (GO:0055072)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)				endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(2)|stomach(1)	11		Colorectal(252;0.234)		Epithelial(162;2.57e-10)|all cancers(201;2.01e-08)		TTTCGTAGCAGGCAAAATAAA	0.532																																						ENST00000370495.4																			0				endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(2)|stomach(1)	11						c.(448-450)gcC>gcT		solute carrier family 25 (mitochondrial iron transporter), member 28							62	67	65					10																	101373523		1904	4113	6017	SO:0001819	synonymous_variant	81894				ion transport|iron ion homeostasis	integral to membrane|mitochondrial inner membrane		g.chr10:101373523G>A	AF327402	CCDS41559.1	10q24.2	2013-05-22	2012-03-29		ENSG00000155287	ENSG00000155287		"Solute carriers"	23472	protein-coding gene	gene with protein product	"mitoferrin 2"	609767	"solute carrier family 25, member 28"			11297739	Standard	NM_031212		Approved	MRS3/4, MRS4L	uc001kpx.2	Q96A46	OTTHUMG00000018886	ENST00000370495.4:c.450C>T	10.37:g.101373523G>A						SLC25A28_ENST00000496035.1_5'UTR	p.A150A	NM_031212.3	NP_112489.3	Q96A46	MFRN2_HUMAN		Epithelial(162;2.57e-10)|all cancers(201;2.01e-08)	2	478	-		Colorectal(252;0.234)	150					Q4VBZ0|Q5T777|Q86VX5|Q969G8|Q9H2J3	Silent	SNP	ENST00000370495.4	37	c.450C>T	CCDS41559.1																																																																																				0.532	SLC25A28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049801.1	NM_031212		16	68	0	0	0	1	0	16	68					A	101373523	G	A	101373523	2	1	108	1	0	0	0	0	0	0	0	1	14491	987	35	3		3	SLC25A28	10	101373523	Silent	SNP	G	TCGA-EJ-8470-01A-11D-2395-08	24212422	101373523	34161224	21	5901											
BTBD10	84280	broad.mit.edu	37	chr11	13443342	13443342	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	actagcaccatgtagactcaTtttggtgtggtcaactcctc	9	13	8	11	0	2	1	2	0	0	1	4	1	3	1	2	2	2	2	2	2	3	4			TCGA-EJ-8470-01A-11D-2395-08	TCGA-EJ-8470-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5303fe3d-a1df-4e49-9fe3-94d7daf30ab1	7dccc1c4-8cb2-47b1-8383-93623cc51068	g.chr11:13443342T>C	ENST00000278174.5	-	3	390	c.145A>G	c.(145-147)Atg>Gtg	p.M49V	BTBD10_ENST00000528120.1_Start_Codon_SNP_p.M1V|BTBD10_ENST00000530907.1_Missense_Mutation_p.M57V|BTBD10_ENST00000532261.1_5'UTR	NM_032320.5	NP_115696.2	Q9BSF8	BTBDA_HUMAN	BTB (POZ) domain containing 10	49						nucleus (GO:0005634)				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(7)|prostate(1)	20				Epithelial(150;0.0214)		TGTAGACTCATTTTGGTGTGG	0.408																																						ENST00000278174.5																			0				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(7)|prostate(1)	20						c.(145-147)Atg>Gtg		BTB (POZ) domain containing 10							101	88	92					11																	13443342		2200	4294	6494	SO:0001583	missense	84280					nucleus		g.chr11:13443342T>C	AY221959	CCDS7811.1, CCDS73261.1	11p15.2	2013-01-24			ENSG00000148925	ENSG00000148925		"BTB/POZ domain containing"	21445	protein-coding gene	gene with protein product		615933				15556295	Standard	XM_005253164		Approved	GMRP1, GMRP-1, MGC13007	uc001mkz.3	Q9BSF8	OTTHUMG00000165787	ENST00000278174.5:c.145A>G	11.37:g.13443342T>C	ENSP00000278174:p.Met49Val					BTBD10_ENST00000530907.1_Missense_Mutation_p.M57V|BTBD10_ENST00000532261.1_5'UTR|BTBD10_ENST00000528120.1_Start_Codon_SNP_p.M1V	p.M49V	NM_032320.5	NP_115696.2	Q9BSF8	BTBDA_HUMAN		Epithelial(150;0.0214)	3	390	-			49					B7Z228|Q86WG1	Missense_Mutation	SNP	ENST00000278174.5	37	c.145A>G	CCDS7811.1	.	.	.	.	.	.	.	.	.	.	T	23.7	4.451759	0.84209	.	.	ENSG00000148925	ENST00000278174;ENST00000530907;ENST00000528120;ENST00000529708;ENST00000526841	T;T;T	0.32753	1.44;1.45;1.52	5.11	5.11	0.69529	.	0.000000	0.85682	D	0.000000	T	0.24736	0.0600	L	0.48642	1.525	0.80722	D	1	P;B;B;B	0.41450	0.75;0.368;0.091;0.223	B;B;B;B	0.33960	0.173;0.113;0.046;0.078	T	0.04723	-1.0931	10	0.21540	T	0.41	-36.5988	14.7298	0.69372	0.0:0.0:0.0:1.0	.	18;57;49;49	B7Z2J1;B7Z228;D3DQW7;Q9BSF8	.;.;.;BTBDA_HUMAN	V	49;57;1;49;49	ENSP00000278174:M49V;ENSP00000431186:M57V;ENSP00000435257:M1V	ENSP00000278174:M49V	M	-	1	0	BTBD10	13399918	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.978000	0.76147	2.154000	0.67381	0.533000	0.62120	ATG		0.408	BTBD10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386200.1	NM_032320		12	68	0	0	0	1	0	12	68					C	13443342	T	C	13443342	3	2	108	1	0	0	0	0	1	0	0	0	1538	1493	52	4	1310	4	BTBD10	11	13443342	Missense_Mutation	SNP	T	TCGA-EJ-8470-01A-11D-2395-08		13443342	121563174	22	5902											
CNTN1	1272	broad.mit.edu	37	chr12	41316217	41316217	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gtcagaagcactgaagcaacCctgagctttggatgtaagta	13	9	11	8	0	1	3	1	2	0	1	1	4	1	4	1	1	4	5	1	1	5	3			TCGA-EJ-8470-01A-11D-2395-08	TCGA-EJ-8470-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5303fe3d-a1df-4e49-9fe3-94d7daf30ab1	7dccc1c4-8cb2-47b1-8383-93623cc51068	g.chr12:41316217C>A	ENST00000551295.2	+	5	504	c.387C>A	c.(385-387)acC>acA	p.T129T	CNTN1_ENST00000360099.3_Silent_p.T129T|CNTN1_ENST00000348761.2_Silent_p.T118T|CNTN1_ENST00000547849.1_Silent_p.T129T|CNTN1_ENST00000347616.1_Silent_p.T129T|CNTN1_ENST00000547702.1_Silent_p.T129T	NM_001843.3	NP_001834.2	Q12860	CNTN1_HUMAN	contactin 1	129	Ig-like C2-type 1.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cerebellum development (GO:0021549)|Notch signaling pathway (GO:0007219)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transport (GO:0010765)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	90	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)				CTGAAGCAACCCTGAGCTTTG	0.398																																						ENST00000551295.2																			0				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	90						c.(385-387)acC>acA		contactin 1							107	96	100					12																	41316217		2203	4300	6503	SO:0001819	synonymous_variant	1272				axon guidance|cell adhesion|Notch signaling pathway	anchored to membrane|membrane fraction|plasma membrane		g.chr12:41316217C>A	Z21488	CCDS8737.1, CCDS8738.1, CCDS58225.1	12q11-q12	2014-01-30				ENSG00000018236		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing", "Endogenous ligands"	2171	protein-coding gene	gene with protein product	"glycoprotein gP135"	600016				7959734, 8586965	Standard	NM_001843		Approved	F3, GP135	uc031qgz.1	Q12860		ENST00000551295.2:c.387C>A	12.37:g.41316217C>A						CNTN1_ENST00000547849.1_Silent_p.T129T|CNTN1_ENST00000348761.2_Silent_p.T118T|CNTN1_ENST00000547702.1_Silent_p.T129T|CNTN1_ENST00000360099.3_Silent_p.T129T|CNTN1_ENST00000347616.1_Silent_p.T129T	p.T129T	NM_001843.3	NP_001834.2	Q12860	CNTN1_HUMAN			5	504	+	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)	129			Ig-like C2-type 1.		A8K0H9|A8K0Y3|Q12861|Q14030|Q7M4P0|Q8N466	Silent	SNP	ENST00000551295.2	37	c.387C>A	CCDS8737.1																																																																																				0.398	CNTN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403692.2	NM_001843		4	87	1	0	0.184627	1	0.18832	4	87					A	41316217	C	A	41316217	2	1	108	1	0	0	0	0	0	0	0	1	3640	610	22	5		5	CNTN1	12	41316217	Silent	SNP	C	TCGA-EJ-8470-01A-11D-2395-08		41316217	92535678	23	5903											
AMIGO2	91523	broad.mit.edu	37	chr12	47472525	47472525	+	5'Flank	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tttgcaaacgatactggaatCcactcagaatccagaagccc	14	8	7	12	1	1	2	1	0	0	2	3	4	3	3	3	1	4	1	3	1	5	2	rs147425809		TCGA-EJ-8470-01A-11D-2395-08	TCGA-EJ-8470-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5303fe3d-a1df-4e49-9fe3-94d7daf30ab1	7dccc1c4-8cb2-47b1-8383-93623cc51068	g.chr12:47472525C>T	ENST00000546455.1	+	0	0				AMIGO2_ENST00000321382.3_Nonsense_Mutation_p.W87*|AMIGO2_ENST00000266581.4_Nonsense_Mutation_p.W87*|AMIGO2_ENST00000429635.1_Nonsense_Mutation_p.W87*|AMIGO2_ENST00000550413.1_Nonsense_Mutation_p.W87*			Q96HM7	PED1B_HUMAN	PC-esterase domain containing 1B								hydrolase activity (GO:0016787)										ATACTGGAATCCACTCAGAAT	0.438																																						ENST00000266581.4																			0				endometrium(2)|kidney(1)|large_intestine(8)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						c.(259-261)tgG>tgA		adhesion molecule with Ig-like domain 2							103	102	103					12																	47472525		2203	4300	6503	SO:0001631	upstream_gene_variant	347902				heterophilic cell-cell adhesion|homophilic cell adhesion	integral to membrane|nucleus|plasma membrane		g.chr12:47472525C>T	BC016154	CCDS8752.1	12q13.11	2012-06-11	2012-06-11	2012-06-11	ENSG00000179715	ENSG00000179715			28255	protein-coding gene	gene with protein product			"family with sequence similarity 113, member B"	FAM113B		20056006	Standard	NM_138371		Approved	MGC16044	uc001rpq.3	Q96HM7	OTTHUMG00000169617		12.37:g.47472525C>T	Exception_encountered					AMIGO2_ENST00000321382.3_Nonsense_Mutation_p.W87*|AMIGO2_ENST00000429635.1_Nonsense_Mutation_p.W87*|AMIGO2_ENST00000550413.1_Nonsense_Mutation_p.W87*	p.W87*	NM_181847.4	NP_862830.1	Q86SJ2	AMGO2_HUMAN			2	727	-	Renal(347;0.138)|Lung SC(27;0.192)		87					Q96B20	Nonsense_Mutation	SNP	ENST00000546455.1	37	c.261G>A	CCDS8752.1	.	.	.	.	.	.	.	.	.	.	C	40	8.053436	0.98629	.	.	ENSG00000139211	ENST00000266581;ENST00000550413;ENST00000429635;ENST00000321382	.	.	.	4.6	4.6	0.57074	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.28530	T	0.3	-9.7626	17.3036	0.87189	0.0:1.0:0.0:0.0	.	.	.	.	X	87	.	ENSP00000266581:W87X	W	-	3	0	AMIGO2	45758792	1.000000	0.71417	1.000000	0.80357	0.842000	0.47809	7.713000	0.84693	2.499000	0.84300	0.655000	0.94253	TGG		0.438	PCED1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405079.1	NM_138371		33	137	0	0	0	1	0	33	137					T	47472525	C	T	47472525	1	4	108	0	1	0	0	0	0	0	0	0	576	856	30	3		3	AMIGO2	12	47472525	5'Flank	SNP	C	TCGA-EJ-8470-01A-11D-2395-08	6156308	47472525	86379370	24	5904											
FLT1	2321	broad.mit.edu	37	chr13	28919605	28919605	+	Frame_Shift_Del	DEL	G	G	-																															tttcatttttcggataaagaGggttaataggagccagaaga																										TCGA-EJ-8470-01A-11D-2395-08	TCGA-EJ-8470-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5303fe3d-a1df-4e49-9fe3-94d7daf30ab1	7dccc1c4-8cb2-47b1-8383-93623cc51068	g.chr13:28919605delG	ENST00000282397.4	-	16	2583	c.2332delC	c.(2332-2334)ctcfs	p.L778fs	FLT1_ENST00000540678.1_5'UTR	NM_002019.4	NP_002010.2	P17948	VGFR1_HUMAN	fms-related tyrosine kinase 1	778					blood vessel morphogenesis (GO:0048514)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|embryonic morphogenesis (GO:0048598)|monocyte chemotaxis (GO:0002548)|patterning of blood vessels (GO:0001569)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein autophosphorylation (GO:0046777)|sprouting angiogenesis (GO:0002040)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor receptor-1 signaling pathway (GO:0036323)|vascular endothelial growth factor signaling pathway (GO:0038084)	endosome (GO:0005768)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|placental growth factor-activated receptor activity (GO:0036332)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)|VEGF-A-activated receptor activity (GO:0036326)|VEGF-B-activated receptor activity (GO:0036327)			NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Axitinib(DB06626)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	CGGATAAAGAGGGTTAATAGG	0.413																																						ENST00000282397.4																			0				NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115						c.(2332-2334)tcfs		fms-related tyrosine kinase 1	Sunitinib(DB01268)						57	55	55					13																	28919605		2203	4300	6503	SO:0001589	frameshift_variant	2321				cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway	extracellular space|Golgi apparatus|integral to plasma membrane|nucleus	ATP binding|growth factor binding|vascular endothelial growth factor receptor activity	g.chr13:28919605delG	AF063657	CCDS9330.1, CCDS53860.1, CCDS53861.1, CCDS73556.1	13q12	2014-09-17	2012-11-19		ENSG00000102755	ENSG00000102755	2.7.10.1	"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	3763	protein-coding gene	gene with protein product	"vascular endothelial growth factor receptor 1", "vascular permeability factor receptor"	165070	"fms-related tyrosine kinase 1 (vascular endothelial growth factor/vascular permeability factor receptor)"	FLT		2158038	Standard	NM_001159920		Approved	VEGFR1	uc001usb.3	P17948	OTTHUMG00000016648	ENST00000282397.4:c.2332delC	13.37:g.28919605delG	ENSP00000282397:p.Leu778fs					FLT1_ENST00000540678.1_5'UTR	p.L778fs	NM_002019.4	NP_002010.2	P17948	VGFR1_HUMAN	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	16	2583	-	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	778					A3E342|A3E344|A8KA71|B0LPF1|B2BF46|B2BF47|B2BF48|B3FR89|B5A923|F5H5L6|O60722|P16057|Q12954	Frame_Shift_Del	DEL	ENST00000282397.4	37	c.2332delC	CCDS9330.1																																																																																				0.413	FLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044322.1			12	29						12	29	---	---	---	---	-	28919605	G	-	28919605	7	5	108	1	0	1	0	1	0	0	0	0	5941	1000	35	0	1744	0	FLT1	13	28919605	Frame_Shift_Del	DEL	G	TCGA-EJ-8470-01A-11D-2395-08		28919605	86250273	25	5905											
ANKS3	124401	broad.mit.edu	37	chr16	4780010	4780010	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cactccttcaccacttcataCtggccaatggaagcagctgt	10	10	7	14	0	2	0	2	0	0	0	3	1	3	1	3	2	3	2	3	2	3	3	rs148767427		TCGA-EJ-8470-01A-11D-2395-08	TCGA-EJ-8470-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5303fe3d-a1df-4e49-9fe3-94d7daf30ab1	7dccc1c4-8cb2-47b1-8383-93623cc51068	g.chr16:4780010C>T	ENST00000304283.4	-	3	435	c.141G>A	c.(139-141)caG>caA	p.Q47Q	RP11-127I20.7_ENST00000588099.1_RNA|ANKS3_ENST00000450067.2_5'UTR|ANKS3_ENST00000592711.1_Silent_p.Q47Q|ANKS3_ENST00000446014.2_5'UTR|ANKS3_ENST00000585773.1_Intron	NM_133450.3	NP_597707.1	Q6ZW76	ANKS3_HUMAN	ankyrin repeat and sterile alpha motif domain containing 3	47										endometrium(5)|kidney(4)|large_intestine(3)|lung(5)|prostate(1)|stomach(1)	19						CCACTTCATACTGGCCAATGG	0.577																																						ENST00000304283.4																			0				endometrium(5)|kidney(4)|large_intestine(3)|lung(5)|prostate(1)|stomach(1)	19						c.(139-141)caG>caA		ankyrin repeat and sterile alpha motif domain containing 3		C	,	1,4393	2.1+/-5.4	0,1,2196	177	159	165		141,141	3.8	1	16	dbSNP_134	165	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	ANKS3	NM_001242929.1,NM_133450.3	,	0,1,6496	TT,TC,CC		0.0,0.0228,0.0077	,	47/550,47/657	4780010	1,12993	2197	4300	6497	SO:0001819	synonymous_variant	124401							g.chr16:4780010C>T	AK057329	CCDS10520.1, CCDS73820.1	16p13.3	2013-01-10			ENSG00000168096	ENSG00000168096		"Sterile alpha motif (SAM) domain containing", "Ankyrin repeat domain containing"	29422	protein-coding gene	gene with protein product						11853319	Standard	NM_133450		Approved	KIAA1977, FLJ32345, FLJ32767	uc002cxj.2	Q6ZW76	OTTHUMG00000129478	ENST00000304283.4:c.141G>A	16.37:g.4780010C>T						ANKS3_ENST00000592711.1_Silent_p.Q47Q|ANKS3_ENST00000585773.1_Intron|ANKS3_ENST00000450067.2_5'UTR|ANKS3_ENST00000446014.2_5'UTR	p.Q47Q	NM_133450.3	NP_597707.1	Q6ZW76	ANKS3_HUMAN			3	435	-			47					B4DWU4|D3DUE2|Q8TF25	Silent	SNP	ENST00000304283.4	37	c.141G>A	CCDS10520.1																																																																																				0.577	ANKS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251642.3	NM_133450		40	361	0	0	0	1	0	40	361					T	4780010	C	T	4780010	2	4	108	1	0	0	0	0	0	0	0	1	690	564	20	3		3	ANKS3	16	4780010	Silent	SNP	C	TCGA-EJ-8470-01A-11D-2395-08		4780010	85574743	26	5906											
DNAH3	55567	broad.mit.edu	37	chr16	20952769	20952769	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taggacggtattcatggattCttcatagaccacggggtaca	11	11	11	8	2	3	1	2	0	1	1	3	3	3	3	1	5	1	2	1	5	4	7			TCGA-EJ-8470-01A-11D-2395-08	TCGA-EJ-8470-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5303fe3d-a1df-4e49-9fe3-94d7daf30ab1	7dccc1c4-8cb2-47b1-8383-93623cc51068	g.chr16:20952769C>A	ENST00000261383.3	-	59	11607	c.11608G>T	c.(11608-11610)Gaa>Taa	p.E3870*	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	3870					cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		TTCATGGATTCTTCATAGACC	0.488																																						ENST00000261383.3																			0				NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202						c.(11608-11610)Gaa>Taa		dynein, axonemal, heavy chain 3							276	261	266					16																	20952769		2201	4300	6501	SO:0001587	stop_gained	55567				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr16:20952769C>A	U83574	CCDS10594.1	16p12.2	2008-08-01	2006-09-04		ENSG00000158486	ENSG00000158486		"Axonemal dyneins"	2949	protein-coding gene	gene with protein product		603334	"dynein, axonemal, heavy polypeptide 3"			9256245, 9373155	Standard	NM_017539		Approved	Dnahc3b, DLP3, Hsadhc3, DKFZp434N074	uc010vbe.2	Q8TD57	OTTHUMG00000090677	ENST00000261383.3:c.11608G>T	16.37:g.20952769C>A	ENSP00000261383:p.Glu3870*					DNAH3_ENST00000415178.1_3'UTR	p.E3870*	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN		GBM - Glioblastoma multiforme(48;0.207)	59	11607	-			3870					O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Nonsense_Mutation	SNP	ENST00000261383.3	37	c.11608G>T	CCDS10594.1	.	.	.	.	.	.	.	.	.	.	C	53	20.687883	0.99933	.	.	ENSG00000158486	ENST00000261383	.	.	.	5.67	5.67	0.87782	.	0.065669	0.64402	D	0.000017	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	.	19.7728	0.96373	0.0:1.0:0.0:0.0	.	.	.	.	X	3870	.	ENSP00000261383:E3870X	E	-	1	0	DNAH3	20860270	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.776000	0.85560	2.687000	0.91594	0.655000	0.94253	GAA		0.488	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207361.1	NM_017539		144	473	1	0	1.70343e-82	1	1.8099e-82	144	473					A	20952769	C	A	20952769	4	1	108	1	0	0	0	0	0	1	0	0	4603	922	32	5	757	5	DNAH3	16	20952769	Nonsense_Mutation	SNP	C	TCGA-EJ-8470-01A-11D-2395-08	16172759	20952769	69401984	27	5907											
ACLY	47	broad.mit.edu	37	chr17	40025296	40025296	+	Splice_Site	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaacagctacaatgctcacCgagtaaaggacccacagttt	16	7	7	11	1	1	0	1	0	0	0	1	2	1	1	2	1	4	4	2	1	6	3			TCGA-EJ-8470-01A-11D-2395-08	TCGA-EJ-8470-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5303fe3d-a1df-4e49-9fe3-94d7daf30ab1	7dccc1c4-8cb2-47b1-8383-93623cc51068	g.chr17:40025296C>A	ENST00000352035.2	-	27	3264	c.3134G>T	c.(3133-3135)cGg>cTg	p.R1045L	ACLY_ENST00000588779.1_5'UTR|ACLY_ENST00000590151.1_Splice_Site_p.R1045L|ACLY_ENST00000353196.1_Splice_Site_p.R1035L|ACLY_ENST00000393896.2_Splice_Site_p.R1035L|ACLY_ENST00000537919.1_Splice_Site_p.R774L	NM_001096.2	NP_001087.2	P53396	ACLY_HUMAN	ATP citrate lyase	1045					ATP catabolic process (GO:0006200)|cellular carbohydrate metabolic process (GO:0044262)|cellular lipid metabolic process (GO:0044255)|citrate metabolic process (GO:0006101)|coenzyme A metabolic process (GO:0015936)|energy reserve metabolic process (GO:0006112)|lipid biosynthetic process (GO:0008610)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|positive regulation of cellular metabolic process (GO:0031325)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	citrate lyase complex (GO:0009346)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATP citrate synthase activity (GO:0003878)|cofactor binding (GO:0048037)|metal ion binding (GO:0046872)|succinate-CoA ligase (ADP-forming) activity (GO:0004775)	p.R1045L(1)	NTN1/ACLY(2)	breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(4)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	28		Breast(137;0.000143)				CAATGCTCACCGAGTAAAGGA	0.358																																					Colon(64;807 1396 15971 30971)	ENST00000352035.2																		NTN1/ACLY(2)	1	Substitution - Missense(1)	p.R1045L(1)	lung(1)	breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(4)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	28						c.e27+1		ATP citrate lyase							175	174	174					17																	40025296		2203	4300	6503	SO:0001630	splice_region_variant	47				ATP catabolic process|cellular carbohydrate metabolic process|citrate metabolic process|coenzyme A metabolic process|energy reserve metabolic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	citrate lyase complex|cytosol|nucleus	ATP binding|ATP citrate synthase activity|citrate (pro-3S)-lyase activity|metal ion binding|protein binding|succinate-CoA ligase (ADP-forming) activity	g.chr17:40025296C>A	X64330	CCDS11412.1, CCDS11413.1	17q21.2	2010-04-27			ENSG00000131473	ENSG00000131473	2.3.3.8		115	protein-coding gene	gene with protein product	"ATP citrate synthase"	108728				1371749, 8088842	Standard	NM_001096		Approved	ATPCL, CLATP, ACL	uc002hyg.3	P53396	OTTHUMG00000133507	ENST00000352035.2:c.3134+1G>T	17.37:g.40025296C>A						ACLY_ENST00000588779.1_5'UTR|ACLY_ENST00000590151.1_Splice_Site_p.R1045_splice|ACLY_ENST00000537919.1_Splice_Site_p.R774_splice|ACLY_ENST00000393896.2_Splice_Site_p.R1035_splice|ACLY_ENST00000353196.1_Splice_Site_p.R1035_splice	p.R1045_splice	NM_001096.2	NP_001087.2	P53396	ACLY_HUMAN			27	3264	-		Breast(137;0.000143)	1045					B4DIM0|B4E3P0|Q13037|Q9BRL0	Splice_Site	SNP	ENST00000352035.2	37	c.3134_splice	CCDS11412.1	.	.	.	.	.	.	.	.	.	.	c	20.2	3.957118	0.73902	.	.	ENSG00000131473	ENST00000352035;ENST00000401700;ENST00000353196;ENST00000537919;ENST00000393896	T;T;D;T	0.88664	-1.42;-1.42;-2.41;-1.42	5.9	5.9	0.94986	Citrate synthase-like, core (1);	0.000000	0.85682	D	0.000000	D	0.93187	0.7830	L	0.58969	1.84	0.80722	D	1	D;P;D;P;D	0.76494	0.999;0.954;0.978;0.757;0.999	D;P;P;P;D	0.85130	0.997;0.733;0.793;0.525;0.997	D	0.92077	0.5669	9	.	.	.	.	17.216	0.86944	0.0:0.8745:0.1255:0.0	.	774;1089;1099;1035;1045	B4E3P0;B4DIM0;E7ENH9;G3XAI4;P53396	.;.;.;.;ACLY_HUMAN	L	1045;1099;1035;774;1035	ENSP00000253792:R1045L;ENSP00000345398:R1035L;ENSP00000445349:R774L;ENSP00000377474:R1035L	.	R	-	2	0	ACLY	37278822	1.000000	0.71417	1.000000	0.80357	0.923000	0.55619	7.768000	0.85345	2.802000	0.96397	0.651000	0.88453	CGG		0.358	ACLY-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257465.1	NM_001096	Missense_Mutation	5	485	1	0	1	1	1	5	485					A	40025296	C	A	40025296	5	1	108	1	0	0	0	0	0	0	1	0	143	666	23	5	183	5	ACLY	17	40025296	Splice_Site	SNP	C	TCGA-EJ-8470-01A-11D-2395-08		40025296	41169914	28	5908											
NFE2L1	4779	broad.mit.edu	37	chr17	46136011	46136011	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	accctttggggggtctgttaGatgaagctatgttggatgag	8	13	15	5	0	1	3	0	2	1	1	1	4	1	4	1	4	1	3	1	4	3	4			TCGA-EJ-8470-01A-11D-2395-08	TCGA-EJ-8470-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5303fe3d-a1df-4e49-9fe3-94d7daf30ab1	7dccc1c4-8cb2-47b1-8383-93623cc51068	g.chr17:46136011G>C	ENST00000362042.3	+	6	1943	c.1327G>C	c.(1327-1329)Gat>Cat	p.D443H	NFE2L1_ENST00000357480.5_Missense_Mutation_p.D413H|RP5-890E16.4_ENST00000583349.1_RNA|NFE2L1_ENST00000582155.1_Missense_Mutation_p.D255H|NFE2L1_ENST00000585291.1_Missense_Mutation_p.D413H|NFE2L1_ENST00000361665.3_Missense_Mutation_p.D432H|NFE2L1_ENST00000583378.1_Missense_Mutation_p.D244H|NFE2L1_ENST00000536222.1_Missense_Mutation_p.D287H	NM_003204.2	NP_003195.1	Q14494	NF2L1_HUMAN	nuclear factor, erythroid 2-like 1	443					anatomical structure morphogenesis (GO:0009653)|erythrocyte differentiation (GO:0030218)|heme biosynthetic process (GO:0006783)|inflammatory response (GO:0006954)|transcription from RNA polymerase II promoter (GO:0006366)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription cofactor activity (GO:0003712)			cervix(1)|endometrium(3)|kidney(9)|large_intestine(7)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						GGGTCTGTTAGATGAAGCTAT	0.547																																						ENST00000362042.3																			0				cervix(1)|endometrium(3)|kidney(9)|large_intestine(7)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(1327-1329)Gat>Cat		nuclear factor, erythroid 2-like 1							81	82	82					17																	46136011		2203	4300	6503	SO:0001583	missense	4779				anatomical structure morphogenesis|heme biosynthetic process|inflammatory response|transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity	g.chr17:46136011G>C	AK090459	CCDS11524.1	17q21.3	2013-08-23	2013-08-23			ENSG00000082641		"basic leucine zipper proteins"	7781	protein-coding gene	gene with protein product		163260	"nuclear factor (erythroid-derived 2)-like 1"	TCF11		8248256, 9501099	Standard	NM_003204		Approved	NRF1, LCR-F1, FLJ00380	uc002imz.4	Q14494		ENST00000362042.3:c.1327G>C	17.37:g.46136011G>C	ENSP00000354855:p.Asp443His					NFE2L1_ENST00000582155.1_Missense_Mutation_p.D255H|NFE2L1_ENST00000585291.1_Missense_Mutation_p.D413H|NFE2L1_ENST00000361665.3_Missense_Mutation_p.D432H|NFE2L1_ENST00000357480.5_Missense_Mutation_p.D413H|NFE2L1_ENST00000583378.1_Missense_Mutation_p.D244H|NFE2L1_ENST00000536222.1_Missense_Mutation_p.D287H	p.D443H	NM_003204.2	NP_003195.1	Q14494	NF2L1_HUMAN			6	1943	+			443					D3DTU3|D3DTU5|Q12877|Q96FN6	Missense_Mutation	SNP	ENST00000362042.3	37	c.1327G>C	CCDS11524.1	.	.	.	.	.	.	.	.	.	.	G	13.79	2.342337	0.41498	.	.	ENSG00000082641	ENST00000362042;ENST00000361665;ENST00000357480;ENST00000536222	D;D;D	0.95447	-3.62;-3.71;-3.71	5.34	3.33	0.38152	.	0.046883	0.85682	D	0.000000	D	0.96904	0.8989	M	0.78049	2.395	0.50632	D	0.999881	D;D;D;D	0.89917	1.0;0.999;1.0;1.0	D;D;D;D	0.71656	0.974;0.921;0.948;0.945	D	0.96133	0.9094	10	0.87932	D	0	-17.3304	9.5329	0.39205	0.0759:0.0:0.7819:0.1422	.	287;255;413;443	F5H1B7;B4DYE1;Q14494-2;Q14494	.;.;.;NF2L1_HUMAN	H	462;443;413;287	ENSP00000355190:D443H;ENSP00000350072:D413H;ENSP00000445811:D287H	ENSP00000350072:D413H	D	+	1	0	NFE2L1	43491010	1.000000	0.71417	0.390000	0.26220	0.942000	0.58702	7.553000	0.82203	0.628000	0.30357	0.455000	0.32223	GAT		0.547	NFE2L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443019.1	NM_003204		37	118	0	0	0	1	0	37	118					C	46136011	G	C	46136011	3	2	108	1	0	0	0	0	1	0	0	0	10367	942	33	5	1345	5	NFE2L1	17	46136011	Missense_Mutation	SNP	G	TCGA-EJ-8470-01A-11D-2395-08	6110715	46136011	35059199	29	5909											
GNA13	10672	broad.mit.edu	37	chr17	63049844	63049844	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agcatcaaccagcaccctcaTacctttgtttaaaaagaaga	16	9	5	11	0	2	2	2	0	0	2	2	2	2	2	3	0	4	3	3	0	6	4			TCGA-EJ-8470-01A-11D-2395-08	TCGA-EJ-8470-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5303fe3d-a1df-4e49-9fe3-94d7daf30ab1	7dccc1c4-8cb2-47b1-8383-93623cc51068	g.chr17:63049844T>C	ENST00000439174.2	-	2	531	c.286A>G	c.(286-288)Atg>Gtg	p.M96V	GNA13_ENST00000541118.1_Start_Codon_SNP_p.M1V|RP11-583F2.5_ENST00000581796.1_RNA	NM_006572.4	NP_006563.2	Q14344	GNA13_HUMAN	guanine nucleotide binding protein (G protein), alpha 13	96					activation of phospholipase D activity (GO:0031584)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|cellular component movement (GO:0006928)|in utero embryonic development (GO:0001701)|patterning of blood vessels (GO:0001569)|platelet activation (GO:0030168)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of cell migration (GO:0030334)|regulation of cell shape (GO:0008360)|Rho protein signal transduction (GO:0007266)|signal transduction (GO:0007165)	brush border membrane (GO:0031526)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|heterotrimeric G-protein complex (GO:0005834)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	D5 dopamine receptor binding (GO:0031752)|G-protein beta/gamma-subunit complex binding (GO:0031683)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)|type 1 angiotensin receptor binding (GO:0031702)			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(14)|kidney(2)|large_intestine(4)|lung(6)|urinary_tract(1)	34						AGCACCCTCATACCTTTGTTT	0.363																																						ENST00000439174.2																			0				breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(14)|kidney(2)|large_intestine(4)|lung(6)|urinary_tract(1)	34						c.(286-288)Atg>Gtg		guanine nucleotide binding protein (G protein), alpha 13							104	105	104					17																	63049844		2203	4300	6503	SO:0001583	missense	10672				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase D activity|cellular component movement|platelet activation|Rho protein signal transduction	brush border membrane|heterotrimeric G-protein complex|melanosome	D5 dopamine receptor binding|G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|signal transducer activity|type 1 angiotensin receptor binding	g.chr17:63049844T>C	L22075	CCDS11661.1, CCDS62302.1	17q24.1	2014-09-04			ENSG00000120063	ENSG00000120063			4381	protein-coding gene	gene with protein product		604406				7791744	Standard	NM_006572		Approved	G13, MGC46138	uc002jfc.3	Q14344	OTTHUMG00000179316	ENST00000439174.2:c.286A>G	17.37:g.63049844T>C	ENSP00000400717:p.Met96Val					GNA13_ENST00000541118.1_Start_Codon_SNP_p.M1V	p.M96V	NM_006572.4	NP_006563.2	Q14344	GNA13_HUMAN			2	531	-			96					B2R977|B7Z7R0|F5H1G8|Q8TD70	Missense_Mutation	SNP	ENST00000439174.2	37	c.286A>G	CCDS11661.1	.	.	.	.	.	.	.	.	.	.	T	12.51	1.958969	0.34565	.	.	ENSG00000120063	ENST00000439174;ENST00000541118;ENST00000239138	D;D	0.88201	-2.35;-2.35	5.28	4.17	0.49024	G protein alpha subunit, helical insertion (2);	0.228496	0.46442	D	0.000290	T	0.80160	0.4572	L	0.35593	1.075	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.74569	-0.3622	10	0.41790	T	0.15	.	4.8813	0.13681	0.0:0.2202:0.0:0.7798	.	96	Q14344	GNA13_HUMAN	V	96;1;71	ENSP00000400717:M96V;ENSP00000439647:M1V	ENSP00000239138:M71V	M	-	1	0	GNA13	60480306	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	2.478000	0.45189	1.988000	0.58038	0.533000	0.62120	ATG		0.363	GNA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445720.1	NM_006572		26	104	0	0	0	1	0	26	104					C	63049844	T	C	63049844	3	2	108	1	0	0	0	0	1	0	0	0	6501	1406	49	4	859	4	GNA13	17	63049844	Missense_Mutation	SNP	T	TCGA-EJ-8470-01A-11D-2395-08	16913833	63049844	18145366	30	5910											
MC5R	4161	broad.mit.edu	37	chr18	13826202	13826202	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aggtacgtcaccatcttctaCgccctgcgctaccaccacat	9	9	6	17	3	3	0	1	0	2	0	3	0	3	0	4	1	4	2	4	1	3	4			TCGA-EJ-8470-01A-11D-2395-08	TCGA-EJ-8470-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5303fe3d-a1df-4e49-9fe3-94d7daf30ab1	7dccc1c4-8cb2-47b1-8383-93623cc51068	g.chr18:13826202C>T	ENST00000324750.3	+	1	660	c.438C>T	c.(436-438)taC>taT	p.Y146Y	AP001525.1_ENST00000390194.2_RNA	NM_005913.2	NP_005904.1	P33032	MC5R_HUMAN	melanocortin 5 receptor	146					G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|positive regulation of cAMP biosynthetic process (GO:0030819)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	hormone binding (GO:0042562)|melanocortin receptor activity (GO:0004977)			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|upper_aerodigestive_tract(1)	41						CCATCTTCTACGCCCTGCGCT	0.557																																						ENST00000324750.3																			0				NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|upper_aerodigestive_tract(1)	41						c.(436-438)taC>taT		melanocortin 5 receptor							150	132	138					18																	13826202		2203	4300	6503	SO:0001819	synonymous_variant	4161				G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	melanocortin receptor activity|protein binding	g.chr18:13826202C>T	AY268429	CCDS11868.1	18p11.2	2012-08-10			ENSG00000176136	ENSG00000176136		"GPCR / Class A : Melanocortin receptors"	6933	protein-coding gene	gene with protein product		600042				8396929	Standard	NM_005913		Approved		uc010xaf.2	P33032	OTTHUMG00000131720	ENST00000324750.3:c.438C>T	18.37:g.13826202C>T							p.Y146Y	NM_005913.2	NP_005904.1	P33032	MC5R_HUMAN			1	660	+			146					B0YJ34|Q502V1	Silent	SNP	ENST00000324750.3	37	c.438C>T	CCDS11868.1																																																																																				0.557	MC5R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254638.1	NM_005913		10	276	0	0	0	1	0	10	276					T	13826202	C	T	13826202	2	4	108	1	0	0	0	0	0	0	0	1	9367	547	19	1		1	MC5R	18	13826202	Silent	SNP	C	TCGA-EJ-8470-01A-11D-2395-08		13826202	64251046	31	5911											
VAV1	7409	broad.mit.edu	37	chr19	6822285	6822285	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcgtggagaatgaggaggCggaaggcgacgagatctatg	11	6	18	6	4	1	3	0	1	1	2	1	8	1	5	0	5	1	0	0	5	3	1	rs186483354		TCGA-EJ-8470-01A-11D-2395-08	TCGA-EJ-8470-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5303fe3d-a1df-4e49-9fe3-94d7daf30ab1	7dccc1c4-8cb2-47b1-8383-93623cc51068	g.chr19:6822285C>T	ENST00000602142.1	+	5	585	c.503C>T	c.(502-504)gCg>gTg	p.A168V	VAV1_ENST00000304076.2_Missense_Mutation_p.A168V|VAV1_ENST00000599806.1_Missense_Mutation_p.A113V|VAV1_ENST00000539284.1_Missense_Mutation_p.A103V|VAV1_ENST00000596764.1_Missense_Mutation_p.A168V	NM_005428.3	NP_005419.2	P15498	VAV_HUMAN	vav 1 guanine nucleotide exchange factor	168					apoptotic signaling pathway (GO:0097190)|blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil chemotaxis (GO:0030593)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|reactive oxygen species metabolic process (GO:0072593)|regulation of Rac GTPase activity (GO:0032314)|regulation of small GTPase mediated signal transduction (GO:0051056)|regulation of transcription, DNA-templated (GO:0006355)|small GTPase mediated signal transduction (GO:0007264)|T cell activation (GO:0042110)|T cell costimulation (GO:0031295)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|sequence-specific DNA binding transcription factor activity (GO:0003700)			biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(16)|lung(18)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	62						AATGAGGAGGCGGAAGGCGAC	0.647													C|||	1	0.000199681	0	0	5008	,	,		15368	0.001		0	False		,,,				2504	0					ENST00000304076.2																			0				biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(16)|lung(18)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	62						c.(502-504)gCg>gTg		vav 1 guanine nucleotide exchange factor							112	83	93					19																	6822285		2201	4298	6499	SO:0001583	missense	7409				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|T cell costimulation	cytosol|plasma membrane	metal ion binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr19:6822285C>T		CCDS12174.1, CCDS59341.1, CCDS59342.1	19p13.2	2013-02-14	2007-07-25			ENSG00000141968		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing", "SH2 domain containing"	12657	protein-coding gene	gene with protein product		164875	"vav 1 oncogene"	VAV		9438848	Standard	NM_005428		Approved		uc010xjh.2	P15498		ENST00000602142.1:c.503C>T	19.37:g.6822285C>T	ENSP00000472929:p.Ala168Val					VAV1_ENST00000599806.1_Missense_Mutation_p.A113V|VAV1_ENST00000602142.1_Missense_Mutation_p.A168V|VAV1_ENST00000596764.1_Missense_Mutation_p.A168V|VAV1_ENST00000539284.1_Missense_Mutation_p.A103V	p.A168V	NM_001258206.1	NP_001245135.1	P15498	VAV_HUMAN			5	597	+			168					B4DVK9|M0QXX6|Q15860	Missense_Mutation	SNP	ENST00000602142.1	37	c.503C>T	CCDS12174.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	12.64	1.999167	0.35226	.	.	ENSG00000141968	ENST00000304076;ENST00000539284	T;T	0.61040	0.14;0.3	4.17	4.17	0.49024	Dbl homology (DH) domain (1);Calponin homology domain (1);	0.275280	0.32055	N	0.006651	T	0.25606	0.0623	N	0.03608	-0.345	0.30489	N	0.771546	P;P;B;B	0.44260	0.83;0.669;0.284;0.318	B;B;B;B	0.31495	0.131;0.084;0.048;0.046	T	0.17137	-1.0379	10	0.30854	T	0.27	.	9.5655	0.39396	0.2096:0.7903:0.0:0.0	.	103;168;113;168	F5H5P4;B2R8B5;Q96D37;P15498	.;.;.;VAV_HUMAN	V	168;103	ENSP00000302269:A168V;ENSP00000443242:A103V	ENSP00000302269:A168V	A	+	2	0	VAV1	6773285	0.982000	0.34865	0.990000	0.47175	0.904000	0.53231	2.558000	0.45879	2.323000	0.78572	0.563000	0.77884	GCG		0.647	VAV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458475.1			3	22	0	0	0	1	0	3	22					T	6822285	C	T	6822285	3	4	108	1	0	0	0	0	1	0	0	0	17128	768	27	1	521	1	VAV1	19	6822285	Missense_Mutation	SNP	C	TCGA-EJ-8470-01A-11D-2395-08		6822285	52306698	32	5912											
SLC1A6	6511	broad.mit.edu	37	chr19	15073138	15073138	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggtcctggttaccaccctcGtgctgtactgcgtcttgaac	5	13	10	13	2	1	1	0	1	1	0	3	1	2	1	3	2	5	3	3	2	3	3			TCGA-EJ-8470-01A-11D-2395-08	TCGA-EJ-8470-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5303fe3d-a1df-4e49-9fe3-94d7daf30ab1	7dccc1c4-8cb2-47b1-8383-93623cc51068	g.chr19:15073138G>A	ENST00000221742.3	-	5	618	c.611C>T	c.(610-612)aCg>aTg	p.T204M	SLC1A6_ENST00000430939.2_Missense_Mutation_p.T140M|SLC1A6_ENST00000600144.1_Missense_Mutation_p.T204M|SLC1A6_ENST00000544886.2_Missense_Mutation_p.T204M|SLC1A6_ENST00000598504.1_Missense_Mutation_p.T204M	NM_005071.1	NP_005062.1	P48664	EAA4_HUMAN	solute carrier family 1 (high affinity aspartate/glutamate transporter), member 6	204					aspartate transport (GO:0015810)|ion transport (GO:0006811)|L-glutamate transport (GO:0015813)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	L-aspartate transmembrane transporter activity (GO:0015183)|L-glutamate transmembrane transporter activity (GO:0005313)|sodium:dicarboxylate symporter activity (GO:0017153)	p.T204M(1)		breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(8)|liver(1)|lung(12)|ovary(3)|pancreas(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42						TACCACCCTCGTGCTGTACTG	0.532																																						ENST00000598504.1																			1	Substitution - Missense(1)	p.T204M(1)	prostate(1)	breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(8)|liver(1)|lung(12)|ovary(3)|pancreas(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42						c.(610-612)aCg>aTg		solute carrier family 1 (high affinity aspartate/glutamate transporter), member 6	L-Glutamic Acid(DB00142)						112	103	106					19																	15073138		2203	4300	6503	SO:0001583	missense	6511				synaptic transmission	integral to plasma membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|L-aspartate transmembrane transporter activity|sodium:dicarboxylate symporter activity	g.chr19:15073138G>A		CCDS12321.1, CCDS62578.1	19p13.12	2013-07-15			ENSG00000105143	ENSG00000105143		"Solute carriers"	10944	protein-coding gene	gene with protein product		600637				7791878	Standard	NM_005071		Approved	EAAT4	uc002naa.2	P48664	OTTHUMG00000183351	ENST00000221742.3:c.611C>T	19.37:g.15073138G>A	ENSP00000221742:p.Thr204Met					SLC1A6_ENST00000544886.2_Missense_Mutation_p.T204M|SLC1A6_ENST00000221742.3_Missense_Mutation_p.T204M|SLC1A6_ENST00000430939.2_Missense_Mutation_p.T140M|SLC1A6_ENST00000600144.1_Missense_Mutation_p.T204M	p.T204M	NM_001272087.1	NP_001259016.1	P48664	EAA4_HUMAN			8	1970	-			204					Q8N753	Missense_Mutation	SNP	ENST00000221742.3	37	c.611C>T	CCDS12321.1	.	.	.	.	.	.	.	.	.	.	g	15.97	2.989592	0.53934	.	.	ENSG00000105143	ENST00000430939;ENST00000221742;ENST00000544886	T;T;T	0.71698	-0.59;0.46;1.19	4.42	4.42	0.53409	.	0.157903	0.56097	D	0.000039	T	0.80665	0.4666	M	0.62723	1.935	0.45330	D	0.99832	D;D;P	0.76494	0.968;0.999;0.845	P;D;B	0.66716	0.49;0.946;0.34	T	0.82542	-0.0405	10	0.62326	D	0.03	-18.7563	14.6221	0.68594	0.0:0.0:1.0:0.0	.	140;204;204	E7EV13;Q8N753;P48664	.;.;EAA4_HUMAN	M	140;204;204	ENSP00000409386:T140M;ENSP00000221742:T204M;ENSP00000446175:T204M	ENSP00000221742:T204M	T	-	2	0	SLC1A6	14934138	1.000000	0.71417	0.994000	0.49952	0.756000	0.42949	4.482000	0.60257	2.310000	0.77875	0.454000	0.30748	ACG		0.532	SLC1A6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466283.1	NM_005071		33	117	0	0	0	1	0	33	117					A	15073138	G	A	15073138	3	1	108	1	0	0	0	0	1	0	0	0	14436	1145	40	1	1103	1	SLC1A6	19	15073138	Missense_Mutation	SNP	G	TCGA-EJ-8470-01A-11D-2395-08	8250853	15073138	44055845	33	5913											
PDCD5	9141	broad.mit.edu	37	chr19	33077770	33077770	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tctggttctcctaggtatcaGaacaaggtttaatagaaatc	13	13	8	7	0	3	2	1	0	2	2	5	2	3	2	1	3	1	3	1	3	7	6			TCGA-EJ-8470-01A-11D-2395-08	TCGA-EJ-8470-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5303fe3d-a1df-4e49-9fe3-94d7daf30ab1	7dccc1c4-8cb2-47b1-8383-93623cc51068	g.chr19:33077770G>C	ENST00000590247.2	+	5	459	c.265G>C	c.(265-267)Gaa>Caa	p.E89Q	PDCD5_ENST00000379316.3_Intron|PDCD5_ENST00000592786.1_Missense_Mutation_p.R58T|PDCD5_ENST00000419343.3_3'UTR|PDCD5_ENST00000586035.1_Missense_Mutation_p.E51Q	NM_004708.3	NP_004699.1	O14737	PDCD5_HUMAN	programmed cell death 5	89					apoptotic process (GO:0006915)|positive regulation of apoptotic process (GO:0043065)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|large_intestine(2)|lung(1)|ovary(1)	5	Esophageal squamous(110;0.137)					CTAGGTATCAGAACAAGGTTT	0.343																																						ENST00000590247.1																			0				breast(1)|large_intestine(2)|lung(1)|ovary(1)	5						c.(265-267)Gaa>Caa		programmed cell death 5							73	78	76					19																	33077770		2203	4300	6503	SO:0001583	missense	9141				apoptosis|induction of apoptosis	cytoplasm|nucleus	DNA binding	g.chr19:33077770G>C	AF014955	CCDS12423.1	19q13.11	2012-10-15			ENSG00000105185	ENSG00000105185			8764	protein-coding gene	gene with protein product	"TFAR19 novel apoptosis-related", "TF1 cell apoptosis-related gene 19"	604583				9920759	Standard	NM_004708		Approved	TFAR19, MGC9294	uc002ntm.3	O14737	OTTHUMG00000180224	ENST00000590247.2:c.265G>C	19.37:g.33077770G>C	ENSP00000466214:p.Glu89Gln					PDCD5_ENST00000586035.1_Missense_Mutation_p.E51Q|PDCD5_ENST00000379316.3_Intron|PDCD5_ENST00000592786.1_Missense_Mutation_p.R58T	p.E89Q	NM_004708.3	NP_004699.1	O14737	PDCD5_HUMAN			5	459	+	Esophageal squamous(110;0.137)		89					B4DE64|Q53YC9|Q6IB70	Missense_Mutation	SNP	ENST00000590247.2	37	c.265G>C	CCDS12423.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.391296	0.83011	.	.	ENSG00000105185	ENST00000221784	.	.	.	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	D	0.87111	0.6096	H	0.96365	3.81	0.80722	D	1	D	0.60575	0.988	P	0.61533	0.89	D	0.90871	0.4746	9	0.87932	D	0	.	19.3088	0.94175	0.0:0.0:1.0:0.0	.	89	O14737	PDCD5_HUMAN	Q	89	.	ENSP00000221784:E89Q	E	+	1	0	PDCD5	37769610	1.000000	0.71417	1.000000	0.80357	0.926000	0.56050	7.522000	0.81844	2.655000	0.90218	0.462000	0.41574	GAA		0.343	PDCD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450320.2	NM_004708		23	94	0	0	0	1	0	23	94					C	33077770	G	C	33077770	3	2	108	1	0	0	0	0	1	0	0	0	11622	943	33	5	283	5	PDCD5	19	33077770	Missense_Mutation	SNP	G	TCGA-EJ-8470-01A-11D-2395-08	18004632	33077770	26051213	34	5914											
PNPLA5	150379	broad.mit.edu	37	chr22	44285287	44285287	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tggaagctgaagttgaagacGttcagctcatgcaggttggg	10	10	15	6	1	2	3	2	2	0	1	2	4	2	4	0	3	3	6	0	3	3	3	rs367551416		TCGA-EJ-8470-01A-11D-2395-08	TCGA-EJ-8470-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5303fe3d-a1df-4e49-9fe3-94d7daf30ab1	7dccc1c4-8cb2-47b1-8383-93623cc51068	g.chr22:44285287G>T	ENST00000597664.1	-	4	753	c.624C>A	c.(622-624)aaC>aaA	p.N208K	PNPLA5_ENST00000593866.1_Missense_Mutation_p.N94K|PNPLA5_ENST00000381198.2_Missense_Mutation_p.N94K|PNPLA5_ENST00000216177.4_Missense_Mutation_p.N208K			Q7Z6Z6	PLPL5_HUMAN	patatin-like phospholipase domain containing 5	208					lipid catabolic process (GO:0016042)		hydrolase activity (GO:0016787)			endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)	16		all_neural(38;0.0966)|Ovarian(80;0.105)|Glioma(61;0.222)				AGTTGAAGACGTTCAGCTCAT	0.577																																						ENST00000216177.4																			0				endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)	16						c.(622-624)aaC>aaA		patatin-like phospholipase domain containing 5							137	137	137					22																	44285287		2203	4300	6503	SO:0001583	missense	150379				lipid catabolic process		hydrolase activity	g.chr22:44285287G>T	Z97055	CCDS14053.1, CCDS54537.1	22q13.31	2009-01-12			ENSG00000100341	ENSG00000100341		"Patatin-like phospholipase domain containing"	24888	protein-coding gene	gene with protein product		611589				16799181, 19029121	Standard	NM_138814		Approved	dJ388M5.4, GS2L	uc003beg.3	Q7Z6Z6	OTTHUMG00000030779	ENST00000597664.1:c.624C>A	22.37:g.44285287G>T	ENSP00000471069:p.Asn208Lys					PNPLA5_ENST00000597664.1_Missense_Mutation_p.N208K|PNPLA5_ENST00000593866.1_Missense_Mutation_p.N94K|PNPLA5_ENST00000381198.2_Missense_Mutation_p.N94K	p.N208K	NM_138814.3	NP_620169.1	Q7Z6Z6	PLPL5_HUMAN			4	756	-		all_neural(38;0.0966)|Ovarian(80;0.105)|Glioma(61;0.222)	208					B1AHL8|B3KPR1|Q6ZST0	Missense_Mutation	SNP	ENST00000597664.1	37	c.624C>A		.	.	.	.	.	.	.	.	.	.	G	11.09	1.535361	0.27475	.	.	ENSG00000100341	ENST00000216177;ENST00000381198	T;T	0.77489	-1.1;0.95	5.21	-10.4	0.00318	Acyl transferase/acyl hydrolase/lysophospholipase (1);	0.792338	0.11443	N	0.563568	T	0.68238	0.2979	L	0.60455	1.87	0.09310	N	1	P;P	0.48764	0.915;0.704	P;B	0.51615	0.675;0.206	T	0.57159	-0.7859	10	0.07644	T	0.81	-5.0022	5.716	0.17960	0.2499:0.1021:0.5633:0.0846	.	94;208	Q7Z6Z6-2;Q7Z6Z6	.;PLPL5_HUMAN	K	208;94	ENSP00000216177:N208K;ENSP00000370595:N94K	ENSP00000216177:N208K	N	-	3	2	PNPLA5	42616620	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-4.399000	0.00240	-2.367000	0.00605	-1.267000	0.01435	AAC		0.577	PNPLA5-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000075667.4	NM_138814		5	280	1	0	0.184627	1	0.18832	5	280					T	44285287	G	T	44285287	3	4	108	1	0	0	0	0	1	0	0	0	12168	1136	40	5	689	5	PNPLA5	22	44285287	Missense_Mutation	SNP	G	TCGA-EJ-8470-01A-11D-2395-08		44285287	7019279	35	5915											
IL23R	149233	broad.mit.edu	37	chr1	67724721	67724721	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tttgtctcctgtttggggatCgtgaatgaggagttgccatc	6	15	13	7	1	1	2	0	2	1	0	4	4	1	4	2	3	1	2	2	3	1	3			TCGA-EJ-8472-01A-11D-2395-08	TCGA-EJ-8472-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88471574-de05-44b5-a205-0a9a7a09c8a7	67774a5a-071c-4f47-93de-783d4e514308	g.chr1:67724721C>T	ENST00000347310.5	+	11	1971	c.1800C>T	c.(1798-1800)atC>atT	p.I600I	IL23R_ENST00000371002.1_3'UTR|IL23R_ENST00000473881.1_3'UTR|IL23R_ENST00000395227.1_Silent_p.I345I	NM_144701.2	NP_653302.2	Q5VWK5	IL23R_HUMAN	interleukin 23 receptor	600					defense response to Gram-negative bacterium (GO:0050829)|inflammatory response (GO:0006954)|interleukin-23-mediated signaling pathway (GO:0038155)|negative regulation of interleukin-10 production (GO:0032693)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of activation of JAK2 kinase activity (GO:0010535)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of granulocyte macrophage colony-stimulating factor production (GO:0032725)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-17 production (GO:0032740)|positive regulation of memory T cell differentiation (GO:0043382)|positive regulation of natural killer cell proliferation (GO:0032819)|positive regulation of NK T cell activation (GO:0051135)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of T-helper 1 type immune response (GO:0002827)|positive regulation of T-helper 17 cell lineage commitment (GO:2000330)|positive regulation of T-helper 17 type immune response (GO:2000318)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat4 protein (GO:0042520)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|regulation of tyrosine phosphorylation of Stat1 protein (GO:0042510)|response to interferon-gamma (GO:0034341)|response to lipopolysaccharide (GO:0032496)	interleukin-23 receptor complex (GO:0072536)|receptor complex (GO:0043235)				breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	21						GTTTGGGGATCGTGAATGAGG	0.403																																						ENST00000347310.5																			0				breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	21						c.(1798-1800)atC>atT		interleukin 23 receptor							72	72	72					1																	67724721		2203	4300	6503	SO:0001819	synonymous_variant	149233				inflammatory response|negative regulation of interleukin-10 production|positive regulation of defense response to virus by host|positive regulation of interferon-gamma production|positive regulation of interleukin-12 production|positive regulation of memory T cell differentiation|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response|response to interferon-gamma|response to lipopolysaccharide	interleukin-23 receptor complex	receptor activity	g.chr1:67724721C>T	AF461422	CCDS637.1	1p31.2	2008-02-05			ENSG00000162594	ENSG00000162594			19100	protein-coding gene	gene with protein product		607562				12023369	Standard	NM_144701		Approved	IL-23R	uc001ddo.3	Q5VWK5	OTTHUMG00000009092	ENST00000347310.5:c.1800C>T	1.37:g.67724721C>T						IL23R_ENST00000473881.1_3'UTR|IL23R_ENST00000395227.1_Silent_p.I345I|IL23R_ENST00000371002.1_3'UTR	p.I600I	NM_144701.2	NP_653302.2	Q5VWK5	IL23R_HUMAN			11	1971	+			600					C9JGX4|Q4VGP1|Q4VGP2|Q4VGP3|Q4VGP4|Q4VGP5|Q4VGP6|Q5VWK7|Q8IW84|Q8NFQ9|Q96AS1	Silent	SNP	ENST00000347310.5	37	c.1800C>T	CCDS637.1	.	.	.	.	.	.	.	.	.	.	C	0.022	-1.412063	0.01145	.	.	ENSG00000162594	ENST00000425614	.	.	.	5.4	3.38	0.38709	.	.	.	.	.	T	0.16642	0.0400	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.14476	-1.0471	4	.	.	.	-18.3593	7.1285	0.25486	0.0:0.7358:0.1716:0.0926	.	.	.	.	L	362	.	.	S	+	2	0	IL23R	67497309	0.000000	0.05858	0.053000	0.19242	0.019000	0.09904	-0.815000	0.04481	1.247000	0.43917	0.655000	0.94253	TCG		0.403	IL23R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025199.2	NM_144701		63	68	0	0	0	0.870114	0	63	68					T	67724721	C	T	67724721	2	4	109	1	0	0	0	0	0	0	0	1	7676	874	31	2		2	IL23R	1	67724721	Silent	SNP	C	TCGA-EJ-8472-01A-11D-2395-08		67724721	181525900	1	5916											
HFM1	164045	broad.mit.edu	37	chr1	91818698	91818698	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atgatgataagcagcaccatCttttaagatatctgtaatag	15	13	7	6	0	2	3	0	2	2	1	2	3	2	3	1	0	2	3	1	0	5	6			TCGA-EJ-8472-01A-11D-2395-08	TCGA-EJ-8472-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88471574-de05-44b5-a205-0a9a7a09c8a7	67774a5a-071c-4f47-93de-783d4e514308	g.chr1:91818698C>G	ENST00000370425.3	-	15	1839	c.1741G>C	c.(1741-1743)Gat>Cat	p.D581H	HFM1_ENST00000370424.3_Missense_Mutation_p.D260H|HFM1_ENST00000294696.5_5'UTR|HFM1_ENST00000462405.1_5'Flank	NM_001017975.3	NP_001017975.3	A2PYH4	HFM1_HUMAN	HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae)	581	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				resolution of meiotic recombination intermediates (GO:0000712)		ATP binding (GO:0005524)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)			breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	75		all_lung(203;0.00961)|Lung NSC(277;0.0351)		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)		GCAGCACCATCTTTTAAGATA	0.313																																						ENST00000370425.3																			0				breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	75						c.(1741-1743)Gat>Cat		HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae)							87	80	82					1																	91818698		1809	4074	5883	SO:0001583	missense	164045						ATP binding|ATP-dependent helicase activity|nucleic acid binding	g.chr1:91818698C>G	AB204867	CCDS30769.2	1p22.2	2008-03-26			ENSG00000162669	ENSG00000162669			20193	protein-coding gene	gene with protein product		615684	"SEC63 domain containing 1"	SEC63D1		14702039, 17286053	Standard	XM_006710395		Approved	MER3, FLJ39011, FLJ36760	uc001doa.4	A2PYH4	OTTHUMG00000010093	ENST00000370425.3:c.1741G>C	1.37:g.91818698C>G	ENSP00000359454:p.Asp581His					HFM1_ENST00000370424.3_Missense_Mutation_p.D260H|HFM1_ENST00000294696.5_5'UTR	p.D581H	NM_001017975.3	NP_001017975.3	A2PYH4	HFM1_HUMAN		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)	15	1839	-		all_lung(203;0.00961)|Lung NSC(277;0.0351)	581			Helicase C-terminal.		B1B0B6|Q8N9Q0	Missense_Mutation	SNP	ENST00000370425.3	37	c.1741G>C	CCDS30769.2	.	.	.	.	.	.	.	.	.	.	C	1.954	-0.440583	0.04636	.	.	ENSG00000162669	ENST00000370425;ENST00000370424;ENST00000370421;ENST00000541820	T;T	0.70749	-0.51;0.91	5.93	-4.91	0.03085	Helicase, C-terminal (2);	2.179560	0.04743	N	0.423110	T	0.18215	0.0437	N	0.01424	-0.875	0.29570	N	0.850002	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.01711	-1.1290	10	0.16896	T	0.51	.	11.8675	0.52501	0.7716:0.1218:0.1066:0.0	.	260;581	A6NGI5;A2PYH4	.;HFM1_HUMAN	H	581;260;265;614	ENSP00000359454:D581H;ENSP00000359453:D260H	ENSP00000359450:D265H	D	-	1	0	HFM1	91591286	0.007000	0.16637	0.531000	0.27976	0.281000	0.26958	0.175000	0.16762	-0.682000	0.05197	-0.211000	0.12701	GAT		0.313	HFM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316716.2	NM_001017975		22	71	0	0	0	0.654019	0	22	71					G	91818698	C	G	91818698	3	3	109	1	0	0	0	0	1	0	0	0	7083	913	32	5	2666	5	HFM1	1	91818698	Missense_Mutation	SNP	C	TCGA-EJ-8472-01A-11D-2395-08	24093977	91818698	157431923	2	5917											
ALG14	199857	broad.mit.edu	37	chr1	95538408	95538409	+	Frame_Shift_Ins	INS	-	-	C																															tattcgcaggattaggaaaaINSccgccacagctcctgcggcc																								rs138237877		TCGA-EJ-8472-01A-11D-2395-08	TCGA-EJ-8472-11A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88471574-de05-44b5-a205-0a9a7a09c8a7	ddf88d8d-b8d4-4f66-964b-5350018c056a	g.chr1:95538408_95538409insC	ENST00000370205.5	-	1	92_93	c.46_47insG	c.(46-48)gttfs	p.V16fs	ALG14_ENST00000495856.1_5'UTR	NM_144988.3	NP_659425.1	Q96F25	ALG14_HUMAN	ALG14, UDP-N-acetylglucosaminyltransferase subunit	16					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)		p.V16G(1)		endometrium(2)|large_intestine(1)|lung(2)|pancreas(1)	6		all_lung(203;0.0232)|Lung NSC(277;0.0739)		all cancers(265;0.0615)|Epithelial(280;0.139)		GATTAGGAAAACCGCCACAGCT	0.569																																						ENST00000370205.4																			1	Substitution - Missense(1)	p.V16G(1)	pancreas(1)	endometrium(2)|large_intestine(1)|lung(2)|pancreas(1)	6						c.(46-48)tttfs		ALG14, UDP-N-acetylglucosaminyltransferase subunit																																				SO:0001589	frameshift_variant	199857				dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase activity	g.chr1:95538408_95538409insC		CCDS752.1	1p21.3	2013-02-21	2013-02-21		ENSG00000172339	ENSG00000172339			28287	protein-coding gene	gene with protein product		612866	"asparagine-linked glycosylation 14 homolog (yeast)", "asparagine-linked glycosylation 14 homolog (S. cerevisiae)"			15615718	Standard	NM_144988		Approved	MGC19780	uc001dra.2	Q96F25	OTTHUMG00000010781	ENST00000370205.5:c.47dupG	1.37:g.95538410_95538410dupC	ENSP00000359224:p.Val16fs					ALG14_ENST00000495856.1_5'UTR	p.F16fs	NM_144988.3	NP_659425.1	Q96F25	ALG14_HUMAN		all cancers(265;0.0615)|Epithelial(280;0.139)	1	92_93	-		all_lung(203;0.0232)|Lung NSC(277;0.0739)	16					A8K030	Frame_Shift_Ins	INS	ENST00000370205.5	37	c.46_47insG	CCDS752.1																																																																																				0.569	ALG14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029699.2	NM_144988		7	158						7	158	---	---	---	---	C	95538409	-	C	95538408	7	5	109	1	0	1	1	0	0	0	0	0	516	43	2	0	619	0	ALG14	1	95538408	Frame_Shift_Ins	INS	-	TCGA-EJ-8472-01A-11D-2395-08	3719710	95538408	153712213	3	5918											
ARNT	405	broad.mit.edu	37	chr1	150789283	150789283	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctgaaattctctgccggccGgggggtaggagggaatgtgt	7	9	17	8	2	1	1	0	1	1	0	2	3	1	3	3	6	1	1	3	6	3	2	rs587670365		TCGA-EJ-8472-01A-11D-2395-08	TCGA-EJ-8472-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88471574-de05-44b5-a205-0a9a7a09c8a7	67774a5a-071c-4f47-93de-783d4e514308	g.chr1:150789283G>A	ENST00000358595.5	-	18	1983	c.1783C>T	c.(1783-1785)Cgg>Tgg	p.R595W	ARNT_ENST00000505755.1_Missense_Mutation_p.R580W|ARNT_ENST00000515192.1_Missense_Mutation_p.R581W|ARNT_ENST00000354396.2_Missense_Mutation_p.R595W	NM_001197325.1|NM_001668.3|NM_178427.2	NP_001184254.1|NP_001659.1|NP_848514.1	P27540	ARNT_HUMAN	aryl hydrocarbon receptor nuclear translocator	595					cell differentiation (GO:0030154)|cellular response to hypoxia (GO:0071456)|embryonic placenta development (GO:0001892)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of glycolytic process (GO:0045821)|positive regulation of hormone biosynthetic process (GO:0046886)|positive regulation of protein sumoylation (GO:0033235)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0043619)|response to hypoxia (GO:0001666)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	aryl hydrocarbon receptor activity (GO:0004874)|aryl hydrocarbon receptor binding (GO:0017162)|enhancer binding (GO:0035326)|protein heterodimerization activity (GO:0046982)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(11)|prostate(2)|skin(4)|stomach(1)	34	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.02)|BRCA - Breast invasive adenocarcinoma(12;0.00606)|LUSC - Lung squamous cell carcinoma(543;0.211)			TCTGCCGGCCGGGGGGTAGGA	0.527			T	ETV6	AML								G|||	1	0.000199681	8e-04	0	5008	,	,		17516	0		0	False		,,,				2504	0					ENST00000358595.5				Dom	yes		1	1q21	405	T	aryl hydrocarbon receptor nuclear translocator			L	ETV6		AML		0				central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(11)|prostate(2)|skin(4)|stomach(1)	34						c.(1783-1785)Cgg>Tgg		aryl hydrocarbon receptor nuclear translocator							83	83	83					1																	150789283		2203	4300	6503	SO:0001583	missense	0				positive regulation of hormone biosynthetic process|positive regulation vascular endothelial growth factor production|regulation of transcription from RNA polymerase II promoter in response to oxidative stress|response to hypoxia		aryl hydrocarbon receptor binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity	g.chr1:150789283G>A	AF001307	CCDS970.1, CCDS971.1, CCDS65641.1, CCDS65642.1	1q21	2013-05-21			ENSG00000143437	ENSG00000143437		"Basic helix-loop-helix proteins"	700	protein-coding gene	gene with protein product		126110					Standard	NM_001668		Approved	HIF-1beta, bHLHe2	uc001evr.2	P27540	OTTHUMG00000035011	ENST00000358595.5:c.1783C>T	1.37:g.150789283G>A	ENSP00000351407:p.Arg595Trp					ARNT_ENST00000354396.2_Missense_Mutation_p.R595W|ARNT_ENST00000515192.1_Missense_Mutation_p.R581W|ARNT_ENST00000505755.1_Missense_Mutation_p.R580W	p.R595W	NM_001197325.1|NM_001668.3|NM_178427.2	NP_001184254.1|NP_001659.1|NP_848514.1	P27540	ARNT_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.02)|BRCA - Breast invasive adenocarcinoma(12;0.00606)|LUSC - Lung squamous cell carcinoma(543;0.211)		18	1983	-	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		595					B2R9H1|C4AMA1|F8WAP6|Q59ED4|Q5QP39|Q8NDC7	Missense_Mutation	SNP	ENST00000358595.5	37	c.1783C>T	CCDS970.1	.	.	.	.	.	.	.	.	.	.	G	17.75	3.467136	0.63625	.	.	ENSG00000143437	ENST00000358595;ENST00000354396;ENST00000515192;ENST00000394700;ENST00000505755	T;T;T;T	0.44482	0.92;0.92;0.92;0.92	5.66	3.59	0.41128	.	0.552842	0.17871	N	0.159184	T	0.54367	0.1854	M	0.66939	2.045	0.53005	D	0.999969	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.999;0.978;0.978;0.978;0.999	T	0.60367	-0.7277	10	0.54805	T	0.06	.	16.2553	0.82515	0.0:0.0:0.7469:0.2531	.	580;595;581;580;595	A8K6P0;F8WAP6;P27540-3;P27540-2;P27540	.;.;.;.;ARNT_HUMAN	W	595;595;581;547;580	ENSP00000351407:R595W;ENSP00000346372:R595W;ENSP00000423851:R581W;ENSP00000427571:R580W	ENSP00000346372:R595W	R	-	1	2	ARNT	149055907	1.000000	0.71417	1.000000	0.80357	1.000000	0.99986	2.978000	0.49305	1.400000	0.46741	0.655000	0.94253	CGG		0.527	ARNT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000084741.2			52	95	0	0	0	0.870114	0	52	95					A	150789283	G	A	150789283	3	1	109	1	0	0	0	0	1	0	0	0	965	1115	39	2	606	2	ARNT	1	150789283	Missense_Mutation	SNP	G	TCGA-EJ-8472-01A-11D-2395-08	55250875	150789283	98461338	4	5919											
SDHC	6391	broad.mit.edu	37	chr1	161326467	161326467	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ctacttggttttctcctcagGggtctctctttttggcatgt	3	19	9	10	0	4	0	1	0	3	0	6	0	4	0	1	4	1	2	1	4	1	6			TCGA-EJ-8472-01A-11D-2395-08	TCGA-EJ-8472-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88471574-de05-44b5-a205-0a9a7a09c8a7	67774a5a-071c-4f47-93de-783d4e514308	g.chr1:161326467G>A	ENST00000367975.2	+	5	391	c.242G>A	c.(241-243)gGg>gAg	p.G81E	SDHC_ENST00000513009.1_Intron|SDHC_ENST00000342751.4_Intron|SDHC_ENST00000392169.2_Splice_Site_p.G28E|SDHC_ENST00000470743.3_3'UTR|SDHC_ENST00000432287.2_Splice_Site_p.G47E	NM_003001.3	NP_002992.1	Q99643	C560_HUMAN	succinate dehydrogenase complex, subunit C, integral membrane protein, 15kDa	81					aerobic respiration (GO:0009060)|cellular metabolic process (GO:0044237)|oxidation-reduction process (GO:0055114)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex II (GO:0005749)|mitochondrion (GO:0005739)|respiratory chain complex II (GO:0045273)	electron carrier activity (GO:0009055)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|succinate dehydrogenase activity (GO:0000104)			urinary_tract(1)	1	all_cancers(52;6.96e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Succinic acid(DB00139)	TTCTCCTCAGGGGTCTCTCTT	0.468			"Mis, N, F"			"paraganglioma, pheochromocytoma"			Familial Paragangliomas;Carney-Stratakis syndrome																													ENST00000367975.2			yes	Rec		Familial paraganglioma	1	1q21	6391	"Mis, N, F"	"succinate dehydrogenase complex, subunit C, integral membrane protein, 15kDa"			O		"paraganglioma, pheochromocytoma"			0				urinary_tract(1)	1						c.e5-1		succinate dehydrogenase complex, subunit C, integral membrane protein, 15kDa	Succinic acid(DB00139)						115	117	116					1																	161326467		2203	4300	6503	SO:0001630	splice_region_variant	6391	Familial Paragangliomas;Carney-Stratakis syndrome	Familial Cancer Database	Hereditary Glomus Tumors, Familial Paragangliomas, Hereditary Paragangliomas, type 1-3: PGL1, PGL2, PGL3, incl. Familial Carotid Body Paraganglioma and Sensorineural Hearing Loss;Carney-Stratakis dyad, Paraganglioma-Gastric Stromal Sarcoma dyad	respiratory electron transport chain|transport|tricarboxylic acid cycle	integral to membrane|mitochondrial respiratory chain complex II|plasma membrane succinate dehydrogenase complex	electron carrier activity|heme binding|succinate dehydrogenase activity	g.chr1:161326467G>A	D49737	CCDS1230.1, CCDS41431.1, CCDS41432.1, CCDS44263.1, CCDS60330.1	1q23.3	2014-09-17	2002-08-29		ENSG00000143252	ENSG00000143252		"Mitochondrial respiratory chain complex / Complex II"	10682	protein-coding gene	gene with protein product		602413	"succinate dehydrogenase complex, subunit C, integral membrane protein, 15kD"	PGL3		9533030, 12658451	Standard	NM_001278172		Approved		uc001gag.3	Q99643	OTTHUMG00000034468	ENST00000367975.2:c.242-1G>A	1.37:g.161326467G>A						SDHC_ENST00000392169.2_Splice_Site_p.G28_splice|SDHC_ENST00000470743.2_Splice_Site|SDHC_ENST00000513009.1_Intron|SDHC_ENST00000342751.4_Intron|SDHC_ENST00000432287.2_Splice_Site_p.G47_splice	p.G81_splice	NM_003001.3	NP_002992.1	Q99643	C560_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00376)		5	391	+	all_cancers(52;6.96e-17)|all_hematologic(112;0.093)		81					O75609|Q3C259|Q3C2D8|Q3C2H4|Q5VTH3	Splice_Site	SNP	ENST00000367975.2	37	c.241_splice	CCDS1230.1	.	.	.	.	.	.	.	.	.	.	g	17.03	3.283820	0.59867	.	.	ENSG00000143252	ENST00000367975;ENST00000432287;ENST00000392169	D;D;D	0.97553	-4.43;-4.43;-4.43	5.24	3.33	0.38152	.	0.168642	0.49916	N	0.000122	D	0.98476	0.9492	H	0.96633	3.855	.	.	.	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.78314	0.981;0.991;0.989	D	0.98720	1.0708	8	.	.	.	.	8.1583	0.31183	0.0837:0.0:0.7587:0.1576	.	28;47;81	Q99643-5;Q99643-3;Q99643	.;.;C560_HUMAN	E	81;47;28	ENSP00000356953:G81E;ENSP00000390558:G47E;ENSP00000376009:G28E	.	G	+	2	0	SDHC	159593091	1.000000	0.71417	0.590000	0.28732	0.977000	0.68977	5.050000	0.64251	0.672000	0.31204	0.639000	0.83563	GGG		0.468	SDHC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083316.2	NM_003001	Missense_Mutation	59	139	0	0	0	0.870114	0	59	139					A	161326467	G	A	161326467	5	1	109	1	0	0	0	0	0	0	1	0	13966	1246	43	3	260	3	SDHC	1	161326467	Splice_Site	SNP	G	TCGA-EJ-8472-01A-11D-2395-08	10537184	161326467	87924154	5	5920											
CAMK1G	57172	broad.mit.edu	37	chr1	209781259	209781259	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgtggattgctggtccatcGgcgtcatcacctacatattg	7	13	10	11	2	2	0	2	0	0	0	4	1	3	1	2	3	2	1	2	3	2	4			TCGA-EJ-8472-01A-11D-2395-08	TCGA-EJ-8472-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88471574-de05-44b5-a205-0a9a7a09c8a7	67774a5a-071c-4f47-93de-783d4e514308	g.chr1:209781259G>A	ENST00000009105.1	+	7	861	c.616G>A	c.(616-618)Ggc>Agc	p.G206S	CAMK1G_ENST00000494990.1_3'UTR|CAMK1G_ENST00000361322.2_Missense_Mutation_p.G206S			Q96NX5	KCC1G_HUMAN	calcium/calmodulin-dependent protein kinase IG	206	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.					calcium- and calmodulin-dependent protein kinase complex (GO:0005954)|Golgi apparatus (GO:0005794)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)			breast(2)|central_nervous_system(1)|large_intestine(8)|lung(8)|stomach(1)	20				OV - Ovarian serous cystadenocarcinoma(81;0.0475)		CTGGTCCATCGGCGTCATCAC	0.582																																					Ovarian(163;530 1939 9680 28669 48710)	ENST00000009105.1																			0				breast(2)|central_nervous_system(1)|large_intestine(8)|lung(8)|stomach(1)	20						c.(616-618)Ggc>Agc		calcium/calmodulin-dependent protein kinase IG							126	115	119					1																	209781259		2203	4300	6503	SO:0001583	missense	57172					Golgi membrane|plasma membrane	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity	g.chr1:209781259G>A		CCDS1486.1	1q32.2	2012-09-20			ENSG00000008118	ENSG00000008118			14585	protein-coding gene	gene with protein product		614994				12637513	Standard	NM_020439		Approved	VWS1, CLICKIII, dJ272L16.1	uc001hhd.3	Q96NX5	OTTHUMG00000036361	ENST00000009105.1:c.616G>A	1.37:g.209781259G>A	ENSP00000009105:p.Gly206Ser					CAMK1G_ENST00000494990.1_3'UTR|CAMK1G_ENST00000361322.2_Missense_Mutation_p.G206S	p.G206S			Q96NX5	KCC1G_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0475)	7	861	+			206			Protein kinase.		Q86UH5|Q9Y3J7	Missense_Mutation	SNP	ENST00000009105.1	37	c.616G>A	CCDS1486.1	.	.	.	.	.	.	.	.	.	.	G	34	5.330083	0.95733	.	.	ENSG00000008118	ENST00000009105;ENST00000361322	D;D	0.82081	-1.57;-1.57	5.62	5.62	0.85841	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.53938	D	0.000041	D	0.95236	0.8455	H	0.98664	4.295	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.996;0.997	D	0.96834	0.9613	10	0.87932	D	0	.	19.6569	0.95845	0.0:0.0:1.0:0.0	.	206;206	Q96NX5-2;Q96NX5	.;KCC1G_HUMAN	S	206	ENSP00000009105:G206S;ENSP00000354861:G206S	ENSP00000009105:G206S	G	+	1	0	CAMK1G	207847882	1.000000	0.71417	0.989000	0.46669	0.893000	0.52053	9.507000	0.97996	2.652000	0.90054	0.561000	0.74099	GGC		0.582	CAMK1G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088526.1	NM_020439		61	127	0	0	0	0.870114	0	61	127					A	209781259	G	A	209781259	3	1	109	1	0	0	0	0	1	0	0	0	2598	1116	39	2	638	2	CAMK1G	1	209781259	Missense_Mutation	SNP	G	TCGA-EJ-8472-01A-11D-2395-08	48454792	209781259	39469362	6	5921											
SUSD4	55061	broad.mit.edu	37	chr1	223396921	223396921	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggacgggagcatgacgggcaCgccgtctaccaccacaaagt	11	4	13	13	4	1	1	0	1	1	0	1	3	1	3	3	3	2	2	3	3	2	1			TCGA-EJ-8472-01A-11D-2395-08	TCGA-EJ-8472-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88471574-de05-44b5-a205-0a9a7a09c8a7	67774a5a-071c-4f47-93de-783d4e514308	g.chr1:223396921C>T	ENST00000343846.3	-	7	1747	c.1114G>A	c.(1114-1116)Gtg>Atg	p.V372M	SUSD4_ENST00000494793.2_Missense_Mutation_p.V372M|SUSD4_ENST00000366878.4_Missense_Mutation_p.V372M|SUSD4_ENST00000484758.2_Missense_Mutation_p.V303M|SUSD4_ENST00000478605.1_Intron|SUSD4_ENST00000454695.2_Missense_Mutation_p.V212M			Q5VX71	SUSD4_HUMAN	sushi domain containing 4	372						integral component of membrane (GO:0016021)				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|skin(1)	17				GBM - Glioblastoma multiforme(131;0.0611)		ATGACGGGCACGCCGTCTACC	0.617																																						ENST00000343846.3																			0				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|skin(1)	17						c.(1114-1116)Gtg>Atg		sushi domain containing 4							28	34	32					1																	223396921		2191	4279	6470	SO:0001583	missense	55061					integral to membrane		g.chr1:223396921C>T	AK096265	CCDS31034.1, CCDS41471.1	1q41	2008-05-14			ENSG00000143502	ENSG00000143502			25470	protein-coding gene	gene with protein product		615827				12477932	Standard	NM_017982		Approved	FLJ10052	uc001hny.4	Q5VX71	OTTHUMG00000037936	ENST00000343846.3:c.1114G>A	1.37:g.223396921C>T	ENSP00000344219:p.Val372Met					SUSD4_ENST00000454695.2_Missense_Mutation_p.V212M|SUSD4_ENST00000366878.4_Missense_Mutation_p.V372M|SUSD4_ENST00000478605.1_Intron	p.V372M			Q5VX71	SUSD4_HUMAN		GBM - Glioblastoma multiforme(131;0.0611)	7	1747	-			372					D3DTB9|Q6UX62|Q9BSR0|Q9NWG0	Missense_Mutation	SNP	ENST00000343846.3	37	c.1114G>A	CCDS41471.1	.	.	.	.	.	.	.	.	.	.	C	28.1	4.889978	0.91889	.	.	ENSG00000143502	ENST00000343846;ENST00000366878;ENST00000542750;ENST00000454695	T;T;T	0.39997	1.05;1.05;1.14	5.16	5.16	0.70880	.	0.311014	0.23129	N	0.051613	T	0.65196	0.2668	M	0.68317	2.08	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.68375	-0.5425	10	0.87932	D	0	-19.3898	18.6628	0.91477	0.0:1.0:0.0:0.0	.	372	Q5VX71	SUSD4_HUMAN	M	372;372;303;212	ENSP00000344219:V372M;ENSP00000355843:V372M;ENSP00000399288:V212M	ENSP00000344219:V372M	V	-	1	0	SUSD4	221463544	0.997000	0.39634	0.984000	0.44739	0.972000	0.66771	3.661000	0.54503	2.405000	0.81733	0.655000	0.94253	GTG		0.617	SUSD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092592.2	NM_017982		12	29	0	0	0	0.411799	0	12	29					T	223396921	C	T	223396921	3	4	109	1	0	0	0	0	1	0	0	0	15407	536	19	1	366	1	SUSD4	1	223396921	Missense_Mutation	SNP	C	TCGA-EJ-8472-01A-11D-2395-08	13615662	223396921	25853700	7	5922											
RYR2	6262	broad.mit.edu	37	chr1	237947932	237947932	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgttttcagaggctttttccGcatcatttgcagcctgctgc	5	15	9	12	2	2	1	2	0	0	1	3	1	3	1	2	1	4	5	2	1	0	5			TCGA-EJ-8472-01A-11D-2395-08	TCGA-EJ-8472-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88471574-de05-44b5-a205-0a9a7a09c8a7	67774a5a-071c-4f47-93de-783d4e514308	g.chr1:237947932G>A	ENST00000366574.2	+	90	13237	c.12920G>A	c.(12919-12921)cGc>cAc	p.R4307H	RYR2_ENST00000542537.1_Missense_Mutation_p.R4291H|RYR2_ENST00000609119.1_3'UTR|RYR2_ENST00000360064.6_Missense_Mutation_p.R4313H	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4307					BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)	p.R4305L(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GGCTTTTTCCGCATCATTTGC	0.502																																						ENST00000366574.2																			1	Substitution - Missense(1)	p.R4305L(1)	lung(1)	NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586						c.(12919-12921)cGc>cAc		ryanodine receptor 2 (cardiac)							78	76	77					1																	237947932		1918	4126	6044	SO:0001583	missense	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237947932G>A	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"Ion channels / Ryanodine receptors", "EF-hand domain containing"	10484	protein-coding gene	gene with protein product		180902	"arrhythmogenic right ventricular dysplasia 2"	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.12920G>A	1.37:g.237947932G>A	ENSP00000355533:p.Arg4307His					RYR2_ENST00000360064.6_Missense_Mutation_p.R4313H|RYR2_ENST00000542537.1_Missense_Mutation_p.R4291H	p.R4307H	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		90	13237	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	4307					Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	c.12920G>A	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	G	2.223	-0.377914	0.05000	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537;ENST00000542288	T;D;T	0.96554	-0.29;-4.05;-0.29	5.11	5.11	0.69529	.	0.000000	0.64402	D	0.000018	D	0.91064	0.7188	L	0.38175	1.15	0.22851	N	0.99865	B;B	0.27316	0.022;0.175	B;B	0.12156	0.006;0.007	T	0.78788	-0.2067	10	0.16420	T	0.52	-11.0906	8.1681	0.31239	0.0786:0.0:0.7635:0.1579	.	1281;4307	B4DGV4;Q92736	.;RYR2_HUMAN	H	4307;4313;4291;1281	ENSP00000355533:R4307H;ENSP00000353174:R4313H;ENSP00000443798:R4291H	ENSP00000353174:R4313H	R	+	2	0	RYR2	236014555	1.000000	0.71417	0.643000	0.29450	0.474000	0.32979	3.788000	0.55446	2.657000	0.90304	0.655000	0.94253	CGC		0.502	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		48	71	0	0	0	0.870114	0	48	71					A	237947932	G	A	237947932	3	1	109	1	0	0	0	0	1	0	0	0	13769	1087	38	1	13278	1	RYR2	1	237947932	Missense_Mutation	SNP	G	TCGA-EJ-8472-01A-11D-2395-08	14551011	237947932	11302689	8	5923											
OR1C1	26188	broad.mit.edu	37	chr1	247921334	247921334	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	taatgtaaggggtggcaaatCgccacatatctatcatacgc	13	10	9	9	2	2	0	1	0	1	0	3	0	2	0	1	3	1	2	1	3	6	5			TCGA-EJ-8472-01A-11D-2395-08	TCGA-EJ-8472-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88471574-de05-44b5-a205-0a9a7a09c8a7	67774a5a-071c-4f47-93de-783d4e514308	g.chr1:247921334C>T	ENST00000408896.2	-	1	648	c.375G>A	c.(373-375)gcG>gcA	p.A125A		NM_012353.2	NP_036485.2	Q15619	OR1C1_HUMAN	olfactory receptor, family 1, subfamily C, member 1	125					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A125A(1)		central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(32)|skin(2)|upper_aerodigestive_tract(1)	46	all_cancers(71;4.34e-05)|all_epithelial(71;1.13e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)	all_cancers(173;0.0247)	OV - Ovarian serous cystadenocarcinoma(106;0.0168)			GGTGGCAAATCGCCACATATC	0.507																																						ENST00000408896.2																			1	Substitution - coding silent(1)	p.A125A(1)	central_nervous_system(1)	central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(32)|skin(2)|upper_aerodigestive_tract(1)	46						c.(373-375)gcG>gcA		olfactory receptor, family 1, subfamily C, member 1							73	69	70					1																	247921334		2015	4176	6191	SO:0001819	synonymous_variant	26188				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:247921334C>T	X89674	CCDS41481.1	1q44	2012-08-09			ENSG00000221888	ENSG00000221888		"GPCR / Class A : Olfactory receptors"	8182	protein-coding gene	gene with protein product						9119360	Standard	NM_012353		Approved	TPCR27, HSTPCR27	uc010pza.2	Q15619	OTTHUMG00000040198	ENST00000408896.2:c.375G>A	1.37:g.247921334C>T							p.A125A	NM_012353.2	NP_036485.2	Q15619	OR1C1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0168)		1	648	-	all_cancers(71;4.34e-05)|all_epithelial(71;1.13e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)	all_cancers(173;0.0247)	125					B9EIR9|Q5VVD2|Q6IF97|Q8NGZ1|Q96R83	Silent	SNP	ENST00000408896.2	37	c.375G>A	CCDS41481.1																																																																																				0.507	OR1C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096855.1			35	56	0	0	0	0.812448	0	35	56					T	247921334	C	T	247921334	2	4	109	1	0	0	0	0	0	0	0	1	10952	871	31	2		2	OR1C1	1	247921334	Silent	SNP	C	TCGA-EJ-8472-01A-11D-2395-08	9973402	247921334	1329287	9	5924											
TTN	7273	broad.mit.edu	37	chr2	179593776	179593776	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatcatcttcatcaagaatcTgatcatcctttagccaggtt	11	15	5	10	0	6	2	4	1	2	1	7	2	7	2	2	1	1	1	2	1	4	5			TCGA-EJ-8472-01A-11D-2395-08	TCGA-EJ-8472-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88471574-de05-44b5-a205-0a9a7a09c8a7	67774a5a-071c-4f47-93de-783d4e514308	g.chr2:179593776T>C	ENST00000591111.1	-	63	18262	c.18038A>G	c.(18037-18039)cAg>cGg	p.Q6013R	TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.Q5086R|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|RP11-171I2.1_ENST00000590024.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.Q6330R|TTN-AS1_ENST00000585451.1_RNA			Q8WZ42	TITIN_HUMAN	titin	12804	Ig-like 41.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATCAAGAATCTGATCATCCTT	0.398																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(18988-18990)cAg>cGg		titin							61	58	59					2																	179593776		1846	4085	5931	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179593776T>C	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.18038A>G	2.37:g.179593776T>C	ENSP00000465570:p.Gln6013Arg					TTN_ENST00000342992.6_Missense_Mutation_p.Q5086R|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.Q6013R|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron	p.Q6330R	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		65	19213	-			6013			Ig-like 44.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.18989A>G		.	.	.	.	.	.	.	.	.	.	T	9.517	1.107167	0.20714	.	.	ENSG00000155657	ENST00000342992	T	0.68331	-0.32	5.93	5.93	0.95920	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.51092	0.1654	N	0.16656	0.425	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.50668	-0.8801	9	0.87932	D	0	.	11.4261	0.50012	0.0:0.0694:0.0:0.9305	.	6013	Q8WZ42	TITIN_HUMAN	R	5086	ENSP00000343764:Q5086R	ENSP00000343764:Q5086R	Q	-	2	0	TTN	179302021	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	3.101000	0.50283	2.281000	0.76405	0.533000	0.62120	CAG		0.398	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		19	37	0	0	0	0.539581	0	19	37					C	179593776	T	C	179593776	3	2	109	1	0	0	0	0	1	0	0	0	16732	1580	55	4	85732	4	TTN	2	179593776	Missense_Mutation	SNP	T	TCGA-EJ-8472-01A-11D-2395-08		179593776	63605597	10	5925											
KIF1A	547	broad.mit.edu	37	chr2	241725861	241725861	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cagtgggtgctccctcacgcGaaggttgcccttgttcttgg	4	12	13	12	2	2	0	1	0	1	0	3	1	3	0	2	3	2	3	2	3	1	4			TCGA-EJ-8472-01A-11D-2395-08	TCGA-EJ-8472-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88471574-de05-44b5-a205-0a9a7a09c8a7	67774a5a-071c-4f47-93de-783d4e514308	g.chr2:241725861G>A	ENST00000320389.7	-	6	657	c.499C>T	c.(499-501)Cgc>Tgc	p.R167C	KIF1A_ENST00000498729.2_Missense_Mutation_p.R167C	NM_004321.6	NP_004312.2	Q12756	KIF1A_HUMAN	kinesin family member 1A	167	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				anterograde axon cargo transport (GO:0008089)|ATP catabolic process (GO:0006200)|cell death (GO:0008219)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|motor activity (GO:0003774)|plus-end-directed microtubule motor activity (GO:0008574)			NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)		TCCCTCACGCGAAGGTTGCCC	0.607																																						ENST00000498729.2																			0				NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66						c.(499-501)Cgc>Tgc		kinesin family member 1A							121	127	125					2																	241725861		2108	4245	6353	SO:0001583	missense	547				anterograde axon cargo transport	cytoplasm|microtubule|nucleus	ATP binding|microtubule motor activity	g.chr2:241725861G>A	AF004425	CCDS46561.1, CCDS58757.1	2q37.2	2014-09-17	2004-01-09	2004-01-14	ENSG00000130294	ENSG00000130294		"Kinesins", "Pleckstrin homology (PH) domain containing"	888	protein-coding gene	gene with protein product		601255	"axonal transport of synaptic vesicles", "chromosome 2 open reading frame 20", "spastic paraplegia 30 (autosomal recessive)"	ATSV, C2orf20, SPG30		7539720, 10323250, 22258533	Standard	NM_001244008		Approved	UNC104	uc010fzk.3	Q12756	OTTHUMG00000151940	ENST00000320389.7:c.499C>T	2.37:g.241725861G>A	ENSP00000322791:p.Arg167Cys					KIF1A_ENST00000320389.7_Missense_Mutation_p.R167C	p.R167C	NM_001244008.1	NP_001230937.1	Q12756	KIF1A_HUMAN		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)	6	745	-		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)	167			Kinesin-motor.		B0I1S5|F5H045|O95068|Q13355|Q14752|Q2NKJ6|Q4LE42|Q53T78|Q59GH1|Q63Z40|Q6P1R9|Q7KZ57	Missense_Mutation	SNP	ENST00000320389.7	37	c.499C>T	CCDS46561.1	.	.	.	.	.	.	.	.	.	.	G	23.6	4.431558	0.83776	.	.	ENSG00000130294	ENST00000320389;ENST00000498729;ENST00000373308;ENST00000404283	T;T;T	0.76839	-1.05;-1.05;-1.05	4.55	4.55	0.56014	Kinesin, motor domain (4);	0.000000	0.85682	U	0.000000	D	0.88343	0.6411	M	0.85462	2.755	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.998;0.997	D	0.90168	0.4233	10	0.87932	D	0	.	13.2244	0.59907	0.0:0.0:0.8403:0.1597	.	167;167;167	F5H045;Q12756-2;Q12756	.;.;KIF1A_HUMAN	C	167	ENSP00000322791:R167C;ENSP00000438388:R167C;ENSP00000384231:R167C	ENSP00000322791:R167C	R	-	1	0	KIF1A	241374534	1.000000	0.71417	0.991000	0.47740	0.975000	0.68041	6.330000	0.72925	2.087000	0.62958	0.643000	0.83706	CGC		0.607	KIF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324536.3	NM_138483		32	111	0	0	0	0.760397	0	32	111					A	241725861	G	A	241725861	3	1	109	1	0	0	0	0	1	0	0	0	8283	1058	37	2	4741	2	KIF1A	2	241725861	Missense_Mutation	SNP	G	TCGA-EJ-8472-01A-11D-2395-08	62132085	241725861	1473512	11	5926											
C3orf62	375341	broad.mit.edu	37	chr3	49314298	49314298	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aaagcgaccatgtctttatgTaatgcattggaaatgcacag	14	11	9	7	1	1	0	0	0	1	0	1	2	1	1	1	1	3	3	1	1	4	4			TCGA-EJ-8472-01A-11D-2395-08	TCGA-EJ-8472-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88471574-de05-44b5-a205-0a9a7a09c8a7	67774a5a-071c-4f47-93de-783d4e514308	g.chr3:49314298T>C	ENST00000343010.3	-	1	1044	c.8A>G	c.(7-9)tAc>tGc	p.Y3C	MIR4271_ENST00000582451.1_RNA	NM_198562.2	NP_940964.1	Q6ZUJ4	CC062_HUMAN	chromosome 3 open reading frame 62	3										breast(1)|kidney(1)|large_intestine(1)|lung(3)	6				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		TGTCTTTATGTAATGCATTGG	0.443																																						ENST00000343010.3																			0				breast(1)|kidney(1)|large_intestine(1)|lung(3)	6						c.(7-9)tAc>tGc		chromosome 3 open reading frame 62							37	39	38					3																	49314298		2122	4226	6348	SO:0001583	missense	375341							g.chr3:49314298T>C	AK125642	CCDS2792.1	3p21.31	2006-02-11			ENSG00000188315	ENSG00000188315			24771	protein-coding gene	gene with protein product						12477932	Standard	NM_198562		Approved	FLJ43654	uc003cwn.2	Q6ZUJ4	OTTHUMG00000156819	ENST00000343010.3:c.8A>G	3.37:g.49314298T>C	ENSP00000341139:p.Tyr3Cys						p.Y3C	NM_198562.2	NP_940964.1	Q6ZUJ4	CC062_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	1	1044	-			3					Q6P7E9|Q7Z3X6	Missense_Mutation	SNP	ENST00000343010.3	37	c.8A>G	CCDS2792.1	.	.	.	.	.	.	.	.	.	.	T	19.61	3.860078	0.71834	.	.	ENSG00000188315	ENST00000343010	T	0.48836	0.8	4.3	-3.09	0.05331	.	1.178570	0.06438	N	0.725518	T	0.24509	0.0594	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.24476	-1.0159	10	0.56958	D	0.05	-0.1179	5.4683	0.16656	0.0:0.1937:0.4833:0.323	.	3	Q6ZUJ4	CC062_HUMAN	C	3	ENSP00000341139:Y3C	ENSP00000341139:Y3C	Y	-	2	0	C3orf62	49289302	0.000000	0.05858	0.001000	0.08648	0.706000	0.40770	-0.732000	0.04904	-0.348000	0.08286	0.533000	0.62120	TAC		0.443	C3orf62-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345990.1	NM_198562		14	60	0	0	0	0.479597	0	14	60					C	49314298	T	C	49314298	3	2	109	1	0	0	0	0	1	0	0	0	2238	1638	57	4	807	4	C3orf62	3	49314298	Missense_Mutation	SNP	T	TCGA-EJ-8472-01A-11D-2395-08		49314298	148708132	12	5927											
GPR87	53836	broad.mit.edu	37	chr3	151012286	151012286	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaccctgatgctctggttatGttttcgctttcggcttgact	5	17	9	10	2	1	2	0	2	1	0	3	2	1	2	1	2	2	5	1	2	2	5			TCGA-EJ-8472-01A-11D-2395-08	TCGA-EJ-8472-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88471574-de05-44b5-a205-0a9a7a09c8a7	67774a5a-071c-4f47-93de-783d4e514308	g.chr3:151012286G>A	ENST00000260843.4	-	3	1212	c.748C>T	c.(748-750)Cat>Tat	p.H250Y	MED12L_ENST00000474524.1_Intron|MED12L_ENST00000491549.1_Intron|MED12L_ENST00000273432.4_Intron	NM_023915.3	NP_076404.3	Q9BY21	GPR87_HUMAN	G protein-coupled receptor 87	250					negative regulation of adenylate cyclase activity (GO:0007194)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled purinergic nucleotide receptor activity (GO:0045028)			endometrium(6)|large_intestine(6)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	19			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			CTCTGGTTATGTTTTCGCTTT	0.438																																						ENST00000260843.4																			0				endometrium(6)|large_intestine(6)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	19						c.(748-750)Cat>Tat		G protein-coupled receptor 87							125	111	116					3																	151012286		2203	4300	6503	SO:0001583	missense	0					integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	g.chr3:151012286G>A	AF237763	CCDS3157.1	3q24	2012-08-21			ENSG00000138271	ENSG00000138271		"GPCR / Class A : Orphans"	4538	protein-coding gene	gene with protein product		606379		GPR95		11273702	Standard	NM_023915		Approved		uc003eyt.2	Q9BY21	OTTHUMG00000159858	ENST00000260843.4:c.748C>T	3.37:g.151012286G>A	ENSP00000260843:p.His250Tyr					MED12L_ENST00000273432.4_Intron|MED12L_ENST00000474524.1_Intron|MED12L_ENST00000491549.1_Intron	p.H250Y	NM_023915.3	NP_076404.3	Q9BY21	GPR87_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)		3	1212	-			250					Q5KU35|Q96JZ8|Q9BXC2	Missense_Mutation	SNP	ENST00000260843.4	37	c.748C>T	CCDS3157.1	.	.	.	.	.	.	.	.	.	.	G	7.881	0.730243	0.15507	.	.	ENSG00000138271	ENST00000260843	T	0.36520	1.25	5.45	5.45	0.79879	GPCR, rhodopsin-like superfamily (1);	0.130715	0.52532	D	0.000063	T	0.46483	0.1395	N	0.25647	0.755	0.48395	D	0.99964	D	0.59357	0.985	P	0.60012	0.867	T	0.42916	-0.9423	10	0.59425	D	0.04	-10.9622	19.2508	0.93925	0.0:0.0:1.0:0.0	.	250	Q9BY21	GPR87_HUMAN	Y	250	ENSP00000260843:H250Y	ENSP00000260843:H250Y	H	-	1	0	GPR87	152494976	1.000000	0.71417	0.245000	0.24217	0.989000	0.77384	3.283000	0.51701	2.719000	0.93026	0.655000	0.94253	CAT		0.438	GPR87-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357788.1			85	141	0	0	0	0.870114	0	85	141					A	151012286	G	A	151012286	3	1	109	1	0	0	0	0	1	0	0	0	6716	1377	48	3	332	3	GPR87	3	151012286	Missense_Mutation	SNP	G	TCGA-EJ-8472-01A-11D-2395-08	101697988	151012286	47010144	13	5928											
CNOT6L	246175	broad.mit.edu	37	chr4	78641727	78641727	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgttctcaaccagccattgaGgatctaaaggccccaggaca	12	8	9	12	0	2	1	1	1	2	0	3	3	2	3	4	3	2	1	4	3	3	3	rs377549782		TCGA-EJ-8472-01A-11D-2395-08	TCGA-EJ-8472-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88471574-de05-44b5-a205-0a9a7a09c8a7	67774a5a-071c-4f47-93de-783d4e514308	g.chr4:78641727G>A	ENST00000504123.1	-	12	1656	c.1526C>T	c.(1525-1527)cCt>cTt	p.P509L	CNOT6L_ENST00000264903.4_Missense_Mutation_p.P509L			Q96LI5	CNO6L_HUMAN	CCR4-NOT transcription complex, subunit 6-like	509	Nuclease domain.				gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA destabilization (GO:0061157)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytoplasmic mRNA processing body assembly (GO:0010606)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|transcription, DNA-templated (GO:0006351)	CCR4-NOT complex (GO:0030014)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A)-specific ribonuclease activity (GO:0004535)			kidney(1)|large_intestine(1)|lung(6)|urinary_tract(1)	9						CAGCCATTGAGGATCTAAAGG	0.468																																						ENST00000504123.1																			0				kidney(1)|large_intestine(1)|lung(6)|urinary_tract(1)	9						c.(1525-1527)cCt>cTt		CCR4-NOT transcription complex, subunit 6-like							133	128	130					4																	78641727		1907	4123	6030	SO:0001583	missense	246175				nuclear-transcribed mRNA poly(A) tail shortening	cytosol	exonuclease activity|protein binding	g.chr4:78641727G>A	AL133112	CCDS68731.1	4q13.3	2014-06-17				ENSG00000138767			18042	protein-coding gene	gene with protein product							Standard	NM_144571		Approved	DKFZp434K098, Ccr4b	uc003hks.3	Q96LI5		ENST00000504123.1:c.1526C>T	4.37:g.78641727G>A	ENSP00000424896:p.Pro509Leu					CNOT6L_ENST00000264903.4_Missense_Mutation_p.P509L	p.P509L			Q96LI5	CNO6L_HUMAN			12	1656	-			509					Q9UF92	Missense_Mutation	SNP	ENST00000504123.1	37	c.1526C>T		.	.	.	.	.	.	.	.	.	.	G	12.97	2.098156	0.37048	.	.	ENSG00000138767	ENST00000504123;ENST00000264903;ENST00000512485	T;T;T	0.80393	-1.37;-1.37;-1.37	5.95	5.95	0.96441	Endonuclease/exonuclease/phosphatase (2);	0.302135	0.30320	U	0.009895	T	0.78253	0.4254	L	0.45352	1.415	0.80722	D	1	B	0.22604	0.072	B	0.26310	0.068	T	0.71137	-0.4680	10	0.37606	T	0.19	-2.9554	20.3921	0.98947	0.0:0.0:1.0:0.0	.	509	Q96LI5	CNO6L_HUMAN	L	509;509;516	ENSP00000424896:P509L;ENSP00000264903:P509L;ENSP00000425571:P516L	ENSP00000264903:P509L	P	-	2	0	CNOT6L	78860751	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.697000	0.54764	2.822000	0.97130	0.650000	0.86243	CCT		0.468	CNOT6L-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000362515.1			107	168	0	0	0	0.870114	0	107	168					A	78641727	G	A	78641727	3	1	109	1	0	0	0	0	1	0	0	0	3623	1000	35	3	145	3	CNOT6L	4	78641727	Missense_Mutation	SNP	G	TCGA-EJ-8472-01A-11D-2395-08		78641727	112512549	14	5929											
AGXT2L1	64850	broad.mit.edu	37	chr4	109667931	109667931	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaattacttgtagatgatgtGctgagcttcagctgtggcag	9	13	13	6	0	1	3	1	2	0	1	1	4	1	3	0	1	4	5	0	1	3	4			TCGA-EJ-8472-01A-11D-2395-08	TCGA-EJ-8472-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88471574-de05-44b5-a205-0a9a7a09c8a7	67774a5a-071c-4f47-93de-783d4e514308	g.chr4:109667931G>T	ENST00000296486.3	-	10	1313	c.1159C>A	c.(1159-1161)Cac>Aac	p.H387N	ETNPPL_ENST00000510706.1_Missense_Mutation_p.H347N|ETNPPL_ENST00000512646.1_Missense_Mutation_p.H329N|ETNPPL_ENST00000411864.2_Missense_Mutation_p.H381N	NM_001146590.1|NM_031279.3	NP_001140062.1|NP_112569.2	Q8TBG4	AT2L1_HUMAN	ethanolamine-phosphate phospho-lyase	387						mitochondrion (GO:0005739)	ethanolamine-phosphate phospho-lyase activity (GO:0050459)|pyridoxal phosphate binding (GO:0030170)|transaminase activity (GO:0008483)										TAGATGATGTGCTGAGCTTCA	0.488																																						ENST00000296486.3																			0											c.(1159-1161)Cac>Aac		ethanolamine-phosphate phospho-lyase							238	239	239					4																	109667931		2203	4300	6503	SO:0001583	missense	64850							g.chr4:109667931G>T	AJ298293	CCDS3682.1, CCDS54792.1, CCDS54793.1	4q25	2013-06-12	2013-06-12	2013-06-12	ENSG00000164089	ENSG00000164089	4.2.3.2		14404	protein-coding gene	gene with protein product		614682	"alanine-glyoxylate aminotransferase 2-like 1"	AGXT2L1		7592550, 22241472	Standard	NM_031279		Approved		uc003hzc.3	Q8TBG4	OTTHUMG00000161036	ENST00000296486.3:c.1159C>A	4.37:g.109667931G>T	ENSP00000296486:p.His387Asn					ETNPPL_ENST00000510706.1_Missense_Mutation_p.H347N|ETNPPL_ENST00000411864.2_Missense_Mutation_p.H381N|ETNPPL_ENST00000512646.1_Missense_Mutation_p.H329N	p.H387N	NM_001146590.1|NM_031279.3	NP_001140062.1|NP_112569.2					10	1313	-								B7Z1Y0|E9PBY0|Q9H174	Missense_Mutation	SNP	ENST00000296486.3	37	c.1159C>A	CCDS3682.1	.	.	.	.	.	.	.	.	.	.	G	13.83	2.353293	0.41700	.	.	ENSG00000164089	ENST00000296486;ENST00000411864;ENST00000512646;ENST00000510706	T;T;T;T	0.41065	1.01;1.01;1.01;1.01	4.88	4.88	0.63580	Pyridoxal phosphate-dependent transferase, major region, subdomain 2 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.095266	0.64402	D	0.000001	T	0.39172	0.1068	L	0.46157	1.445	0.50632	D	0.999882	B;B;B	0.34103	0.271;0.391;0.437	B;B;B	0.35114	0.096;0.196;0.096	T	0.18681	-1.0329	9	.	.	.	-14.4414	16.5871	0.84730	0.0:0.0:1.0:0.0	.	329;381;387	E9PBY0;Q8TBG4-2;Q8TBG4	.;.;AT2L1_HUMAN	N	387;381;329;347	ENSP00000296486:H387N;ENSP00000392269:H381N;ENSP00000427065:H329N;ENSP00000423240:H347N	.	H	-	1	0	AGXT2L1	109887380	1.000000	0.71417	0.985000	0.45067	0.998000	0.95712	5.130000	0.64745	2.398000	0.81561	0.650000	0.86243	CAC		0.488	ETNPPL-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000363508.1	NM_031279		5	422	1	0	0.184627	0.184627	0.192833	5	422					T	109667931	G	T	109667931	3	4	109	1	0	0	0	0	1	0	0	0	406	1319	46	5	356	5	AGXT2L1	4	109667931	Missense_Mutation	SNP	G	TCGA-EJ-8472-01A-11D-2395-08	31026204	109667931	81486345	15	5930											
PDZD2	23037	broad.mit.edu	37	chr5	32090268	32090268	+	Frame_Shift_Del	DEL	C	C	-																															cattttggacgggagggtcaCcccccacacagcctgggtcg																										TCGA-EJ-8472-01A-11D-2395-08	TCGA-EJ-8472-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88471574-de05-44b5-a205-0a9a7a09c8a7	67774a5a-071c-4f47-93de-783d4e514308	g.chr5:32090268delC	ENST00000438447.1	+	20	7102	c.6714delC	c.(6712-6714)cacfs	p.H2238fs	PDZD2_ENST00000282493.3_Frame_Shift_Del_p.H2238fs			O15018	PDZD2_HUMAN	PDZ domain containing 2	2238					cell adhesion (GO:0007155)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|nucleus (GO:0005634)				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						GGGAGGGTCACCCCCCACACA	0.637																																						ENST00000438447.1																			0				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						c.(6712-6714)cafs		PDZ domain containing 2							153	165	161					5																	32090268		2203	4300	6503	SO:0001589	frameshift_variant	23037				cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus		g.chr5:32090268delC	AB002298	CCDS34137.1	5p14.1	2008-02-05	2006-01-24	2006-01-24		ENSG00000133401			18486	protein-coding gene	gene with protein product		610697	"PDZ domain containing 3"	PDZK3		9205841	Standard	XM_005248271		Approved	KIAA0300	uc003jhm.3	O15018		ENST00000438447.1:c.6714delC	5.37:g.32090268delC	ENSP00000402033:p.His2238fs					PDZD2_ENST00000282493.3_Frame_Shift_Del_p.H2238fs	p.H2238fs			O15018	PDZD2_HUMAN			20	7102	+			2238					Q9BXD4	Frame_Shift_Del	DEL	ENST00000438447.1	37	c.6714delC	CCDS34137.1																																																																																				0.637	PDZD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366608.1			8	701						8	701	---	---	---	---	-	32090268	C	-	32090268	7	5	109	1	0	1	0	1	0	0	0	0	11701	506	18	0	6788	0	PDZD2	5	32090268	Frame_Shift_Del	DEL	C	TCGA-EJ-8472-01A-11D-2395-08		32090268	148824992	16	5931											
SNCAIP	9627	broad.mit.edu	37	chr5	121776374	121776374	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atgcaagaacagggcatctcGttggatgaagtagaccagga	14	7	13	7	1	1	3	0	1	1	2	2	5	1	5	1	3	2	4	1	3	4	2	rs529418957	byFrequency	TCGA-EJ-8472-01A-11D-2395-08	TCGA-EJ-8472-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88471574-de05-44b5-a205-0a9a7a09c8a7	67774a5a-071c-4f47-93de-783d4e514308	g.chr5:121776374G>A	ENST00000261368.8	+	7	1609	c.1347G>A	c.(1345-1347)tcG>tcA	p.S449S	SNCAIP_ENST00000542191.1_Silent_p.S7S|CTC-210G5.1_ENST00000510972.1_RNA|CTC-210G5.1_ENST00000506053.1_RNA|SNCAIP_ENST00000379533.2_Silent_p.S496S|SNCAIP_ENST00000414317.2_Silent_p.S51S|CTC-210G5.1_ENST00000509993.1_RNA|CTC-210G5.1_ENST00000503529.1_RNA|SNCAIP_ENST00000261367.7_Silent_p.S496S|SNCAIP_ENST00000379538.3_Silent_p.S83S|SNCAIP_ENST00000379536.2_Silent_p.S389S|SNCAIP_ENST00000503116.2_Silent_p.S496S|SNCAIP_ENST00000504884.2_3'UTR	NM_005460.2	NP_005451.2	Q9Y6H5	SNCAP_HUMAN	synuclein, alpha interacting protein	449					cell death (GO:0008219)|dopamine metabolic process (GO:0042417)|regulation of inclusion body assembly (GO:0090083)|regulation of neurotransmitter secretion (GO:0046928)	cytoplasm (GO:0005737)|neuronal cell body (GO:0043025)|presynaptic membrane (GO:0042734)|synaptic vesicle (GO:0008021)	identical protein binding (GO:0042802)|ubiquitin protein ligase binding (GO:0031625)			NS(3)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	39		all_cancers(142;0.00787)|Prostate(80;0.0327)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232)		AGGGCATCTCGTTGGATGAAG	0.448													G|||	2	0.000399361	0	0	5008	,	,		17209	0		0	False		,,,				2504	0.002					ENST00000261367.7																			0				NS(3)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	39						c.(1486-1488)tcG>tcA		synuclein, alpha interacting protein							150	145	147					5																	121776374		2203	4300	6503	SO:0001819	synonymous_variant	9627				cell death|dopamine metabolic process|regulation of inclusion body assembly|regulation of neurotransmitter secretion	cytoplasm|neuronal cell body|nucleolus|presynaptic membrane	ubiquitin protein ligase binding	g.chr5:121776374G>A	AF167306	CCDS4131.1, CCDS58964.1	5q23.2	2013-01-10	2008-07-31		ENSG00000064692	ENSG00000064692		"Ankyrin repeat domain containing"	11139	protein-coding gene	gene with protein product	"synphilin"	603779				10319874	Standard	NM_001242935		Approved	SYPH1	uc003ksw.1	Q9Y6H5	OTTHUMG00000128915	ENST00000261368.8:c.1347G>A	5.37:g.121776374G>A						SNCAIP_ENST00000379538.3_Silent_p.S83S|SNCAIP_ENST00000542191.1_Silent_p.S7S|SNCAIP_ENST00000504884.2_3'UTR|SNCAIP_ENST00000379533.2_Silent_p.S496S|SNCAIP_ENST00000261368.8_Silent_p.S449S|CTC-210G5.1_ENST00000509993.1_RNA|SNCAIP_ENST00000379536.2_Silent_p.S389S|SNCAIP_ENST00000414317.2_Silent_p.S51S|CTC-210G5.1_ENST00000503529.1_RNA|SNCAIP_ENST00000503116.2_Silent_p.S496S|CTC-210G5.1_ENST00000510972.1_RNA|CTC-210G5.1_ENST00000506053.1_RNA	p.S496S			Q9Y6H5	SNCAP_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232)	9	2916	+		all_cancers(142;0.00787)|Prostate(80;0.0327)	449					D3DSZ1|Q05BS1|Q1PSC2|Q49AC6|Q504U9|Q6L984|Q6L985|Q6L986|Q9HC59	Silent	SNP	ENST00000261368.8	37	c.1488G>A	CCDS4131.1																																																																																				0.448	SNCAIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250888.1			69	110	0	0	0	0.870114	0	69	110					A	121776374	G	A	121776374	2	1	109	1	0	0	0	0	0	0	0	1	14841	1132	40	1		1	SNCAIP	5	121776374	Silent	SNP	G	TCGA-EJ-8472-01A-11D-2395-08	89686106	121776374	59138886	17	5932											
ZNF608	57507	broad.mit.edu	37	chr5	123984772	123984772	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gcagcagacctcgctctcttCcctctgccccggccccctct	3	9	7	22	2	3	1	0	0	3	1	6	1	4	1	6	1	2	3	6	1	0	1			TCGA-EJ-8472-01A-11D-2395-08	TCGA-EJ-8472-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88471574-de05-44b5-a205-0a9a7a09c8a7	67774a5a-071c-4f47-93de-783d4e514308	g.chr5:123984772C>A	ENST00000306315.5	-	4	1740	c.1305G>T	c.(1303-1305)ggG>ggT	p.G435G	ZNF608_ENST00000504926.1_Silent_p.G8G	NM_020747.2	NP_065798.2	Q9ULD9	ZN608_HUMAN	zinc finger protein 608	435							metal ion binding (GO:0046872)			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(12)|ovary(3)|skin(6)|urinary_tract(1)	46		all_cancers(142;0.186)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783)		TCGCTCTCTTCCCTCTGCCCC	0.572																																						ENST00000306315.5																			0				breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(12)|ovary(3)|skin(6)|urinary_tract(1)	46						c.(1303-1305)ggG>ggT		zinc finger protein 608							29	32	31					5																	123984772		2202	4293	6495	SO:0001819	synonymous_variant	57507					intracellular	zinc ion binding	g.chr5:123984772C>A	AB033107	CCDS34219.1	5q23.2	2008-05-02			ENSG00000168916	ENSG00000168916		"Zinc fingers, C2H2-type"	29238	protein-coding gene	gene with protein product						10574462, 10508479	Standard	NM_020747		Approved	KIAA1281, DKFZp434M098, NY-REN-36	uc003ktq.1	Q9ULD9	OTTHUMG00000162999	ENST00000306315.5:c.1305G>T	5.37:g.123984772C>A						ZNF608_ENST00000504926.1_Silent_p.G8G	p.G435G	NM_020747.2	NP_065798.2	Q9ULD9	ZN608_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783)	4	1740	-		all_cancers(142;0.186)|Prostate(80;0.081)	435					A7E2W9|Q3SYM6|Q68D12|Q8IY05|Q9Y5A1	Silent	SNP	ENST00000306315.5	37	c.1305G>T	CCDS34219.1																																																																																				0.572	ZNF608-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371300.1	XM_114432		36	75	1	0	4.11147e-13	0.788014	4.71315e-13	36	75					A	123984772	C	A	123984772	2	1	109	1	0	0	0	0	0	0	0	1	18031	842	30	5		5	ZNF608	5	123984772	Silent	SNP	C	TCGA-EJ-8472-01A-11D-2395-08	2208398	123984772	56930488	18	5933											
PHF15	23338	broad.mit.edu	37	chr5	133914648	133914649	+	Frame_Shift_Ins	INS	-	-	C																															catcctagccacccctgaaaINSgccccccgccactggcccct																										TCGA-EJ-8472-01A-11D-2395-08	TCGA-EJ-8472-11A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88471574-de05-44b5-a205-0a9a7a09c8a7	ddf88d8d-b8d4-4f66-964b-5350018c056a	g.chr5:133914648_133914649insC	ENST00000282605.4	+	12	2232_2233	c.2146_2147insC	c.(2146-2148)agcfs	p.S716fs	PHF15_ENST00000402835.1_3'UTR|PHF15_ENST00000395003.1_Frame_Shift_Ins_p.S672fs|PHF15_ENST00000361895.2_Frame_Shift_Ins_p.S673fs																NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	22			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CACCCCTGAAAGCCCCCCGCCA	0.649																																						ENST00000395003.1																			0				NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	22						c.(2014-2016)cccfs																																						SO:0001589	frameshift_variant	0				histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation	histone acetyltransferase complex	zinc ion binding	g.chr5:133914648_133914649insC																												Exception_encountered	5.37:g.133914648_133914649insC	ENSP00000282605:p.Ser716fs					PHF15_ENST00000402835.1_3'UTR|PHF15_ENST00000282605.4_Frame_Shift_Ins_p.P716fs|PHF15_ENST00000361895.2_Frame_Shift_Ins_p.P673fs	p.P672fs	NM_015288.4	NP_056103.4	Q9NQC1	JADE2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		11	2193_2194	+			672			Pro-rich.			Frame_Shift_Ins	INS	ENST00000282605.4	37	c.2014_2015insC																																																																																					0.649	PHF15-003	NOVEL	alternative_5_UTR|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000251170.1			8	271						8	271	---	---	---	---	C	133914649	-	C	133914648	7	5	109	1	0	1	1	0	0	0	0	0	11826	72	3	0	2052	0	PHF15	5	133914648	Frame_Shift_Ins	INS	-	TCGA-EJ-8472-01A-11D-2395-08	9929876	133914648	47000612	19	5934											
PCDHB3	56132	broad.mit.edu	37	chr5	140482022	140482022	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tggcggtggacggcgactcgGgccagaacgcctggctgtcg	5	6	18	12	6	0	1	0	0	0	1	2	3	0	2	2	6	1	1	2	6	1	0			TCGA-EJ-8472-01A-11D-2395-08	TCGA-EJ-8472-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88471574-de05-44b5-a205-0a9a7a09c8a7	67774a5a-071c-4f47-93de-783d4e514308	g.chr5:140482022G>T	ENST00000231130.2	+	1	1789	c.1789G>T	c.(1789-1791)Ggc>Tgc	p.G597C	AC005754.7_ENST00000607216.1_RNA	NM_018937.2	NP_061760.1	Q9Y5E6	PCDB3_HUMAN	protocadherin beta 3	597	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CGGCGACTCGGGCCAGAACGC	0.721																																						ENST00000231130.2																			0				NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72						c.(1789-1791)Ggc>Tgc									10	13	12					5																	140482022		1584	3298	4882	SO:0001583	missense	0				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	g.chr5:140482022G>T	AF152496	CCDS4245.1	5q31	2010-01-26			ENSG00000113205	ENSG00000113205		"Cadherins / Protocadherins : Clustered"	8688	other	protocadherin		606329				10380929	Standard	NM_018937		Approved	PCDH-BETA3	uc003lio.3	Q9Y5E6	OTTHUMG00000129622	ENST00000231130.2:c.1789G>T	5.37:g.140482022G>T	ENSP00000231130:p.Gly597Cys						p.G597C	NM_018937.2	NP_061760.1	Q9Y5E6	PCDB3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1789	+			597			Cadherin 6.		B2R8P2	Missense_Mutation	SNP	ENST00000231130.2	37	c.1789G>T	CCDS4245.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.198798	0.79015	.	.	ENSG00000113205	ENST00000231130	T	0.28666	1.6	4.08	4.08	0.47627	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.74574	0.3734	H	0.99764	4.76	0.51482	D	0.999925	D	0.89917	1.0	D	0.97110	1.0	D	0.87707	0.2564	9	0.87932	D	0	.	16.3117	0.82873	0.0:0.0:1.0:0.0	.	597	Q9Y5E6	PCDB3_HUMAN	C	597	ENSP00000231130:G597C	ENSP00000231130:G597C	G	+	1	0	PCDHB3	140462206	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.071000	0.93980	1.993000	0.58246	0.556000	0.70494	GGC		0.721	PCDHB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251817.2	NM_018937		34	131	1	0	1.61572e-30	0.853193	1.92251e-30	34	131					T	140482022	G	T	140482022	3	4	109	1	0	0	0	0	1	0	0	0	11543	1232	43	5	1791	5	PCDHB3	5	140482022	Missense_Mutation	SNP	G	TCGA-EJ-8472-01A-11D-2395-08	6567374	140482022	40433238	20	5935											
FAF2	23197	broad.mit.edu	37	chr5	175933901	175933901	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cccctacgctacaggaggccGgactcagccacacagaagtt	11	5	10	15	2	1	1	1	0	0	1	1	3	1	3	4	3	3	2	4	3	3	3			TCGA-EJ-8472-01A-11D-2395-08	TCGA-EJ-8472-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88471574-de05-44b5-a205-0a9a7a09c8a7	67774a5a-071c-4f47-93de-783d4e514308	g.chr5:175933901G>T	ENST00000261942.6	+	11	1341	c.1288G>T	c.(1288-1290)Gga>Tga	p.G430*		NM_014613.2	NP_055428.1	Q96CS3	FAF2_HUMAN	Fas associated factor family member 2	430	UBX. {ECO:0000255|PROSITE- ProRule:PRU00215}.				lipid particle organization (GO:0034389)|negative regulation of catalytic activity (GO:0043086)|response to unfolded protein (GO:0006986)	Cdc48p-Npl4p-Ufd1p AAA ATPase complex (GO:0034098)|endoplasmic reticulum (GO:0005783)|intracellular membrane-bounded organelle (GO:0043231)|lipid particle (GO:0005811)	lipase binding (GO:0035473)|lipase inhibitor activity (GO:0055102)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	10						ACAGGAGGCCGGACTCAGCCA	0.512																																						ENST00000261942.6																			0				breast(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	10						c.(1288-1290)Gga>Tga		Fas associated factor family member 2							105	109	108					5																	175933901		2203	4300	6503	SO:0001587	stop_gained	23197				response to unfolded protein	endoplasmic reticulum|lipid particle	protein binding	g.chr5:175933901G>T	BC015791	CCDS34296.1	5q35.2	2011-06-28	2008-07-25	2008-07-25	ENSG00000113194	ENSG00000113194		"UBX domain containing"	24666	protein-coding gene	gene with protein product	"expressed in T cells and eosinophils in atopic dermatitis", "UBX domain protein 3B"		"UBX domain containing 8"	UBXD8		10048485, 12372427	Standard	NM_014613		Approved	ETEA, KIAA0887, UBXN3B	uc003mej.4	Q96CS3	OTTHUMG00000163228	ENST00000261942.6:c.1288G>T	5.37:g.175933901G>T	ENSP00000261942:p.Gly430*						p.G430*	NM_014613.2	NP_055428.1	Q96CS3	FAF2_HUMAN			11	1341	+			430			UBX.		O94963|Q8IUF2|Q9BRP2|Q9BVM7	Nonsense_Mutation	SNP	ENST00000261942.6	37	c.1288G>T	CCDS34296.1	.	.	.	.	.	.	.	.	.	.	G	35	5.436408	0.96168	.	.	ENSG00000113194	ENST00000261942	.	.	.	4.89	4.02	0.46733	.	0.103679	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	-14.4864	13.3894	0.60813	0.0758:0.0:0.9242:0.0	.	.	.	.	X	430	.	ENSP00000261942:G430X	G	+	1	0	FAF2	175866507	1.000000	0.71417	0.998000	0.56505	0.930000	0.56654	9.222000	0.95196	1.277000	0.44412	0.561000	0.74099	GGA		0.512	FAF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372194.1	NM_014613		4	183	1	0	0.00909568	0.150653	0.00960667	4	183					T	175933901	G	T	175933901	4	4	109	1	0	0	0	0	0	1	0	0	5370	1117	39	5	1330	5	FAF2	5	175933901	Nonsense_Mutation	SNP	G	TCGA-EJ-8472-01A-11D-2395-08	35451879	175933901	4981359	21	5936											
UNC5A	90249	broad.mit.edu	37	chr5	176306459	176306459	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	taggcggggtgccgactggcGgactctggcccagaaactcc	7	6	15	13	3	1	1	0	0	1	1	2	3	2	2	3	6	2	0	3	6	2	1			TCGA-EJ-8472-01A-11D-2395-08	TCGA-EJ-8472-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88471574-de05-44b5-a205-0a9a7a09c8a7	67774a5a-071c-4f47-93de-783d4e514308	g.chr5:176306459G>A	ENST00000329542.4	+	14	2607	c.2333G>A	c.(2332-2334)cGg>cAg	p.R778Q	UNC5A_ENST00000261961.3_Missense_Mutation_p.R738Q	NM_133369.2	NP_588610.2	Q6ZN44	UNC5A_HUMAN	unc-5 homolog A (C. elegans)	778	Death.				anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|positive regulation of apoptotic process (GO:0043065)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(4)|kidney(3)|large_intestine(2)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	34	all_cancers(89;0.000119)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GCCGACTGGCGGACTCTGGCC	0.677																																						ENST00000329542.4																			0				endometrium(4)|kidney(3)|large_intestine(2)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	34						c.(2332-2334)cGg>cAg		unc-5 homolog A (C. elegans)							47	58	55					5																	176306459		2203	4300	6503	SO:0001583	missense	90249				apoptosis|axon guidance|regulation of apoptosis	integral to membrane|plasma membrane		g.chr5:176306459G>A	AB075856	CCDS34299.1	5q35.3	2013-01-11	2001-11-28		ENSG00000113763	ENSG00000113763		"Immunoglobulin superfamily / I-set domain containing"	12567	protein-coding gene	gene with protein product		607869	"unc5 (C.elegans homolog) a"				Standard	XM_006714927		Approved	KIAA1976, UNC5H1	uc003mey.3	Q6ZN44	OTTHUMG00000163225	ENST00000329542.4:c.2333G>A	5.37:g.176306459G>A	ENSP00000332737:p.Arg778Gln					UNC5A_ENST00000261961.3_Missense_Mutation_p.R738Q	p.R778Q	NM_133369.2	NP_588610.2	Q6ZN44	UNC5A_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		14	2607	+	all_cancers(89;0.000119)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	778			Death.		B2RXE6|Q8TF26|Q96GP4	Missense_Mutation	SNP	ENST00000329542.4	37	c.2333G>A	CCDS34299.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.170142	0.78452	.	.	ENSG00000113763	ENST00000329542;ENST00000261961	D;D	0.86865	-2.18;-2.18	5.15	3.38	0.38709	Death (2);DEATH-like (2);	0.000000	0.85682	D	0.000000	T	0.80037	0.4550	L	0.59436	1.845	0.46701	D	0.999167	P	0.36535	0.557	B	0.22386	0.039	T	0.75068	-0.3448	10	0.30078	T	0.28	-38.2605	10.3637	0.44010	0.1594:0.0:0.8406:0.0	.	778	Q6ZN44	UNC5A_HUMAN	Q	778;738	ENSP00000332737:R778Q;ENSP00000261961:R738Q	ENSP00000261961:R738Q	R	+	2	0	UNC5A	176239065	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.612000	0.98347	0.765000	0.33221	0.561000	0.74099	CGG		0.677	UNC5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372166.1	XM_030300		83	142	0	0	0	0.870114	0	83	142					A	176306459	G	A	176306459	3	1	109	1	0	0	0	0	1	0	0	0	16988	1116	39	2	2387	2	UNC5A	5	176306459	Missense_Mutation	SNP	G	TCGA-EJ-8472-01A-11D-2395-08	372558	176306459	4608801	22	5937											
RREB1	6239	broad.mit.edu	37	chr6	7229901	7229901	+	Silent	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acggtggtggccacctccacGcccccgcctctcatcaacgc	6	6	9	20	4	2	0	2	0	1	0	4	0	3	0	6	3	1	0	6	3	1	0			TCGA-EJ-8472-01A-11D-2395-08	TCGA-EJ-8472-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88471574-de05-44b5-a205-0a9a7a09c8a7	67774a5a-071c-4f47-93de-783d4e514308	g.chr6:7229901G>C	ENST00000349384.6	+	10	1883	c.1569G>C	c.(1567-1569)acG>acC	p.T523T	RREB1_ENST00000379933.3_Silent_p.T523T|RREB1_ENST00000379938.2_Silent_p.T523T|RREB1_ENST00000334984.6_Silent_p.T523T	NM_001003698.3	NP_001003698.1	Q92766	RREB1_HUMAN	ras responsive element binding protein 1	523	Pro-rich.				multicellular organismal development (GO:0007275)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|Ras protein signal transduction (GO:0007265)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear body (GO:0016604)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)				CCACCTCCACGCCCCCGCCTC	0.687																																						ENST00000379938.2																			0				breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						c.(1567-1569)acG>acC		ras responsive element binding protein 1							44	56	52					6																	7229901		2198	4296	6494	SO:0001819	synonymous_variant	6239				multicellular organismal development|positive regulation of transcription, DNA-dependent|Ras protein signal transduction|transcription from RNA polymerase II promoter	cytoplasm|nuclear speck	DNA binding|zinc ion binding	g.chr6:7229901G>C	U26914	CCDS34335.1, CCDS34336.1, CCDS54963.1	6p25	2013-01-08			ENSG00000124782	ENSG00000124782		"Zinc fingers, C2H2-type"	10449	protein-coding gene	gene with protein product	"hindsight homolog (drosophila)"	602209				9367691, 18394891	Standard	NM_001003698		Approved	HNT	uc003mxb.3	Q92766	OTTHUMG00000014201	ENST00000349384.6:c.1569G>C	6.37:g.7229901G>C						RREB1_ENST00000349384.6_Silent_p.T523T|RREB1_ENST00000379933.3_Silent_p.T523T|RREB1_ENST00000334984.6_Silent_p.T523T	p.T523T	NM_001003699.3|NM_001003700.1	NP_001003699.1|NP_001003700.1	Q92766	RREB1_HUMAN			10	2106	+	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)	523			Pro-rich.		A2RRF5|E2GM80|E2GM81|O75567|O75568|Q5VYB2|Q6BEP5|Q6BEP6|Q6BEP8|Q86SU2|Q9Y474	Silent	SNP	ENST00000349384.6	37	c.1569G>C	CCDS34336.1																																																																																				0.687	RREB1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000352985.1			10	104	0	0	0	0.870114	0	10	104					C	7229901	G	C	7229901	2	2	109	1	0	0	0	0	0	0	0	1	13679	1074	38	5		5	RREB1	6	7229901	Silent	SNP	G	TCGA-EJ-8472-01A-11D-2395-08		7229901	163885166	23	5938											
HSPA1L	3305	broad.mit.edu	37	chr6	31778497	31778497	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tggtggggatggtggagttgCgctttatcagggcagtcatc	6	12	17	6	1	2	0	2	0	0	0	3	2	2	2	0	6	1	3	0	6	1	3			TCGA-EJ-8472-01A-11D-2395-08	TCGA-EJ-8472-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88471574-de05-44b5-a205-0a9a7a09c8a7	67774a5a-071c-4f47-93de-783d4e514308	g.chr6:31778497C>T	ENST00000375654.4	-	2	1442	c.1253G>A	c.(1252-1254)cGc>cAc	p.R418H	HSPA1L_ENST00000417199.3_Missense_Mutation_p.R418H	NM_005527.3	NP_005518.3	P34931	HS71L_HUMAN	heat shock 70kDa protein 1-like	418					binding of sperm to zona pellucida (GO:0007339)|protein refolding (GO:0042026)|response to unfolded protein (GO:0006986)	blood microparticle (GO:0072562)|cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrial matrix (GO:0005759)|zona pellucida receptor complex (GO:0002199)	ATP binding (GO:0005524)|unfolded protein binding (GO:0051082)			breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|pleura(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34						GGTGGAGTTGCGCTTTATCAG	0.602																																						ENST00000375654.4																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|pleura(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34						c.(1252-1254)cGc>cAc		heat shock 70kDa protein 1-like							100	95	97					6																	31778497		2203	4300	6503	SO:0001583	missense	0				response to unfolded protein		ATP binding	g.chr6:31778497C>T	D85730	CCDS34413.1	6p21.3	2014-01-21	2002-08-29		ENSG00000204390	ENSG00000204390		"Heat shock proteins / HSP70"	5234	protein-coding gene	gene with protein product		140559	"heat shock 70kD protein-like 1"			9685725, 9349405	Standard	NM_005527		Approved	HSP70-HOM, hum70t	uc003nxh.3	P34931	OTTHUMG00000031208	ENST00000375654.4:c.1253G>A	6.37:g.31778497C>T	ENSP00000364805:p.Arg418His					HSPA1L_ENST00000417199.3_Missense_Mutation_p.R418H	p.R418H	NM_005527.3	NP_005518.3	P34931	HS71L_HUMAN			2	1442	-			418					A6NNB0|B0UXW8|O75634|Q2HXR3|Q8NE72|Q96QC9|Q9UQM1	Missense_Mutation	SNP	ENST00000375654.4	37	c.1253G>A	CCDS34413.1	.	.	.	.	.	.	.	.	.	.	C	13.55	2.270208	0.40194	.	.	ENSG00000204390	ENST00000375654;ENST00000417199;ENST00000375653	T;T	0.05925	3.37;3.37	5.2	4.34	0.51931	.	0.000000	0.35291	N	0.003311	T	0.33000	0.0848	H	0.99746	4.745	0.58432	D	0.999998	D	0.65815	0.995	D	0.66716	0.946	T	0.59440	-0.7454	10	0.87932	D	0	-8.8479	11.5243	0.50571	0.0:0.9137:0.0:0.0863	.	418	P34931	HS71L_HUMAN	H	418;418;363	ENSP00000364805:R418H;ENSP00000387691:R418H	ENSP00000364804:R363H	R	-	2	0	HSPA1L	31886476	1.000000	0.71417	1.000000	0.80357	0.034000	0.12701	5.899000	0.69846	1.432000	0.47375	-0.237000	0.12165	CGC		0.602	HSPA1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076416.2			37	154	0	0	0	0.827153	0	37	154					T	31778497	C	T	31778497	3	4	109	1	0	0	0	0	1	0	0	0	7410	768	27	1	676	1	HSPA1L	6	31778497	Missense_Mutation	SNP	C	TCGA-EJ-8472-01A-11D-2395-08	24548596	31778497	139336570	24	5939											
ROS1	6098	broad.mit.edu	37	chr6	117630054	117630054	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agctggataaggctgatgacCaagagttaaaatctcccaaa	16	8	9	8	0	1	3	0	2	1	1	2	4	1	4	2	2	1	3	2	2	5	2			TCGA-EJ-8472-01A-11D-2395-08	TCGA-EJ-8472-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88471574-de05-44b5-a205-0a9a7a09c8a7	67774a5a-071c-4f47-93de-783d4e514308	g.chr6:117630054C>T	ENST00000368508.3	-	41	6670	c.6472G>A	c.(6472-6474)Ggt>Agt	p.G2158S	ROS1_ENST00000368507.3_Missense_Mutation_p.G2152S	NM_002944.2	NP_002935.2	P08922	ROS1_HUMAN	ROS proto-oncogene 1 , receptor tyrosine kinase	2158	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell differentiation (GO:0030154)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|columnar/cuboidal epithelial cell development (GO:0002066)|negative regulation of gene expression (GO:0010629)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein phosphorylation (GO:0006468)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of phosphate transport (GO:0010966)|regulation of TOR signaling (GO:0032006)|spermatogenesis (GO:0007283)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		GGCTGATGACCAAGAGTTAAA	0.383			T	"GOPC, SDC4, SLC34A2, EZR, LRIG3"	"glioblastoma, NSCLC"																																	ENST00000368508.3				Dom	yes		6	6q22	6098	T	v-ros UR2 sarcoma virus oncogene homolog 1 (avian)			"O, E"	"GOPC, SDC4, SLC34A2, EZR, LRIG3"		"glioblastoma, NSCLC"	TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	0				NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162						c.(6472-6474)Ggt>Agt		c-ros oncogene 1 , receptor tyrosine kinase							86	82	83					6																	117630054		2203	4300	6503	SO:0001583	missense	6098				transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr6:117630054C>T	M13599	CCDS5116.1	6q21-q22	2014-06-26	2014-06-26		ENSG00000047936	ENSG00000047936		"Fibronectin type III domain containing"	10261	protein-coding gene	gene with protein product		165020	"v-ros avian UR2 sarcoma virus oncogene homolog 1", "v-ros UR2 sarcoma virus oncogene homolog 1 (avian)", "c-ros oncogene 1 , receptor tyrosine kinase"			1611909	Standard	NM_002944		Approved	MCF3, ROS, c-ros-1	uc003pxp.1	P08922	OTTHUMG00000016188	ENST00000368508.3:c.6472G>A	6.37:g.117630054C>T	ENSP00000357494:p.Gly2158Ser					ROS1_ENST00000368507.3_Missense_Mutation_p.G2152S	p.G2158S	NM_002944.2	NP_002935.2	P08922	ROS_HUMAN		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)	41	6670	-		all_cancers(87;0.00846)|all_epithelial(87;0.0242)	2158			Protein kinase.		Q15368|Q5TDB5	Missense_Mutation	SNP	ENST00000368508.3	37	c.6472G>A	CCDS5116.1	.	.	.	.	.	.	.	.	.	.	C	26.7	4.764600	0.89932	.	.	ENSG00000047936	ENST00000368508;ENST00000368507	D;D	0.92752	-3.1;-3.1	5.05	5.05	0.67936	.	0.000000	0.64402	D	0.000010	D	0.96288	0.8789	M	0.87456	2.885	0.49213	D	0.999768	D	0.89917	1.0	D	0.97110	1.0	D	0.96713	0.9527	10	0.72032	D	0.01	.	17.7464	0.88422	0.0:1.0:0.0:0.0	.	2158	P08922	ROS1_HUMAN	S	2158;2152	ENSP00000357494:G2158S;ENSP00000357493:G2152S	ENSP00000357493:G2152S	G	-	1	0	ROS1	117736747	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.800000	0.69108	2.492000	0.84095	0.650000	0.86243	GGT		0.383	ROS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043464.1			16	88	0	0	0	0.520397	0	16	88					T	117630054	C	T	117630054	3	4	109	1	0	0	0	0	1	0	0	0	13531	594	21	3	583	3	ROS1	6	117630054	Missense_Mutation	SNP	C	TCGA-EJ-8472-01A-11D-2395-08	85851557	117630054	53485013	25	5940											
C6orf70	55780	broad.mit.edu	37	chr6	170175420	170175420	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctgctgcctttccccgaaGaactcactcggcaagccgtc	7	9	8	17	3	2	1	1	0	1	1	5	2	3	1	4	1	4	2	4	1	3	1			TCGA-EJ-8472-01A-11D-2395-08	TCGA-EJ-8472-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88471574-de05-44b5-a205-0a9a7a09c8a7	67774a5a-071c-4f47-93de-783d4e514308	g.chr6:170175420G>T	ENST00000366773.3	+	14	1405	c.1372G>T	c.(1372-1374)Gaa>Taa	p.E458*	ERMARD_ENST00000366772.2_Nonsense_Mutation_p.E458*|ERMARD_ENST00000588451.1_Nonsense_Mutation_p.E322*|ERMARD_ENST00000392095.4_Nonsense_Mutation_p.E332*|ERMARD_ENST00000418781.3_Nonsense_Mutation_p.E458*	NM_001278532.1|NM_018341.1	NP_001265461.1|NP_060811.1	Q5T6L9	EMARD_HUMAN	ER membrane-associated RNA degradation	458					multicellular organismal development (GO:0007275)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)											TTTCCCCGAAGAACTCACTCG	0.502																																						ENST00000588451.1																			0				breast(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(7)|ovary(1)	20						c.(964-966)Gaa>Taa									76	67	70					6																	170175420		2203	4300	6503	SO:0001587	stop_gained	0					integral to membrane		g.chr6:170175420G>T	AK002014	CCDS34576.1, CCDS64572.1, CCDS64573.1, CCDS64574.1	6q27	2013-08-28	2013-08-28	2013-08-28	ENSG00000130023	ENSG00000130023			21056	protein-coding gene	gene with protein product		615532	"chromosome 6 open reading frame 70"	C6orf70		23768067	Standard	NM_018341		Approved	FLJ11152, dJ266L20.3	uc003qxg.1	Q5T6L9	OTTHUMG00000016067	ENST00000366773.3:c.1372G>T	6.37:g.170175420G>T	ENSP00000355735:p.Glu458*					C6orf70_ENST00000366773.3_Nonsense_Mutation_p.E458*|C6orf70_ENST00000392095.4_Nonsense_Mutation_p.E332*|C6orf70_ENST00000418781.3_Nonsense_Mutation_p.E458*|C6orf70_ENST00000366772.2_Nonsense_Mutation_p.E458*	p.E322*			Q5T6L9	CF070_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;1.2e-22)|BRCA - Breast invasive adenocarcinoma(81;1.49e-07)|GBM - Glioblastoma multiforme(31;0.00191)	13	1477	+		Breast(66;5.08e-05)|Ovarian(120;0.208)	458					B4DFH0|F8WAF1|Q3ZCS8|Q5T6L8|Q9NUT5|Q9NVU2	Nonsense_Mutation	SNP	ENST00000366773.3	37	c.964G>T	CCDS34576.1	.	.	.	.	.	.	.	.	.	.	.	36	5.881756	0.97062	.	.	ENSG00000130023	ENST00000366773;ENST00000366772;ENST00000418781;ENST00000392095;ENST00000366771	.	.	.	4.9	4.9	0.64082	.	0.314611	0.26510	N	0.023979	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	13.6408	0.62249	0.0:0.0:1.0:0.0	.	.	.	.	X	458;458;458;332;106	.	ENSP00000355733:E106X	E	+	1	0	C6orf70	169917345	0.222000	0.23652	0.006000	0.13384	0.011000	0.07611	4.253000	0.58791	2.252000	0.74401	0.461000	0.40582	GAA		0.502	ERMARD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043238.2	NM_018341		16	34	1	0	1.50039e-11	0.608945	1.65926e-11	16	34					T	170175420	G	T	170175420	4	4	109	1	0	0	0	0	0	1	0	0	2370	943	33	5	1426	5	C6orf70	6	170175420	Nonsense_Mutation	SNP	G	TCGA-EJ-8472-01A-11D-2395-08	52545366	170175420	939647	26	5941											
PIK3CG	5294	broad.mit.edu	37	chr7	106509435	106509435	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	accaccgtttcctcctgcgcCgtggagaatacgtcctccac	7	9	8	17	4	0	1	0	0	0	1	4	2	4	1	7	1	2	1	7	1	2	2	rs138344795	byFrequency	TCGA-EJ-8472-01A-11D-2395-08	TCGA-EJ-8472-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88471574-de05-44b5-a205-0a9a7a09c8a7	67774a5a-071c-4f47-93de-783d4e514308	g.chr7:106509435C>T	ENST00000359195.3	+	2	1739	c.1429C>T	c.(1429-1431)Cgt>Tgt	p.R477C	PIK3CG_ENST00000496166.1_Missense_Mutation_p.R477C|PIK3CG_ENST00000440650.2_Missense_Mutation_p.R477C	NM_001282427.1|NM_002649.2	NP_001269356.1|NP_002640.2	P48736	PK3CG_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma	477	C2 PI3K-type. {ECO:0000255|PROSITE- ProRule:PRU00880}.				adaptive immune response (GO:0002250)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cytokine production (GO:0001816)|dendritic cell chemotaxis (GO:0002407)|endocytosis (GO:0006897)|G-protein coupled receptor signaling pathway (GO:0007186)|hepatocyte apoptotic process (GO:0097284)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|mast cell degranulation (GO:0043303)|natural killer cell chemotaxis (GO:0035747)|negative regulation of cardiac muscle contraction (GO:0055118)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of triglyceride catabolic process (GO:0010897)|neutrophil chemotaxis (GO:0030593)|neutrophil extravasation (GO:0072672)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of cell adhesion mediated by integrin (GO:0033628)|respiratory burst involved in defense response (GO:0002679)|secretory granule localization (GO:0032252)|small molecule metabolic process (GO:0044281)|T cell activation (GO:0042110)|T cell chemotaxis (GO:0010818)|T cell proliferation (GO:0042098)	1-phosphatidylinositol-4-phosphate 3-kinase, class IB complex (GO:0005944)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|mast cell granule (GO:0042629)|membrane (GO:0016020)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|ephrin receptor binding (GO:0046875)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						CCTCCTGCGCCGTGGAGAATA	0.517													C|||	4	0.000798722	0.003	0	5008	,	,		20995	0		0	False		,,,				2504	0					ENST00000359195.3																			0				breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						c.(1429-1431)Cgt>Tgt		phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma		C	CYS/ARG	14,4392	21.2+/-45.6	0,14,2189	121	114	116		1429	6	1	7	dbSNP_134	116	0,8600		0,0,4300	yes	missense	PIK3CG	NM_002649.2	180	0,14,6489	TT,TC,CC		0.0,0.3177,0.1076	possibly-damaging	477/1103	106509435	14,12992	2203	4300	6503	SO:0001583	missense	5294				G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding	g.chr7:106509435C>T		CCDS5739.1	7q22	2012-07-13	2012-07-13		ENSG00000105851	ENSG00000105851	2.7.1.153		8978	protein-coding gene	gene with protein product		601232	"phosphoinositide-3-kinase, catalytic, gamma polypeptide"				Standard	XM_005250443		Approved		uc003vdw.3	P48736	OTTHUMG00000157641	ENST00000359195.3:c.1429C>T	7.37:g.106509435C>T	ENSP00000352121:p.Arg477Cys					PIK3CG_ENST00000440650.2_Missense_Mutation_p.R477C|PIK3CG_ENST00000496166.1_Missense_Mutation_p.R477C	p.R477C	NM_002649.2	NP_002640.2	P48736	PK3CG_HUMAN			2	1739	+			477					A4D0Q6|Q8IV23|Q9BZC8	Missense_Mutation	SNP	ENST00000359195.3	37	c.1429C>T	CCDS5739.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	15.61	2.884183	0.51908	0.003177	0.0	ENSG00000105851	ENST00000440650;ENST00000496166;ENST00000359195	T;T;T	0.76839	-1.05;-1.05;-1.05	6.02	6.02	0.97574	C2 calcium/lipid-binding domain, CaLB (1);Phosphoinositide 3-kinase, C2 (1);	0.298166	0.42294	D	0.000740	T	0.74876	0.3774	N	0.22421	0.69	0.41912	D	0.990474	P	0.38300	0.626	P	0.49140	0.601	T	0.71656	-0.4527	10	0.28530	T	0.3	-16.6567	15.1526	0.72713	0.1738:0.8262:0.0:0.0	.	477	P48736	PK3CG_HUMAN	C	477	ENSP00000392258:R477C;ENSP00000419260:R477C;ENSP00000352121:R477C	ENSP00000352121:R477C	R	+	1	0	PIK3CG	106296671	0.991000	0.36638	0.980000	0.43619	0.988000	0.76386	5.051000	0.64257	2.865000	0.98341	0.655000	0.94253	CGT		0.517	PIK3CG-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349294.1			69	110	0	0	0	0.870114	0	69	110					T	106509435	C	T	106509435	3	4	109	1	0	0	0	0	1	0	0	0	11916	652	23	2	1431	2	PIK3CG	7	106509435	Missense_Mutation	SNP	C	TCGA-EJ-8472-01A-11D-2395-08		106509435	52629228	27	5942											
HTRA4	203100	broad.mit.edu	37	chr8	38834065	38834065	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tggagacaggttacttcacgGcagcaggcttgttcctgtgt	7	12	13	9	1	1	1	1	0	0	1	2	2	2	1	1	4	2	5	1	4	1	4			TCGA-EJ-8472-01A-11D-2395-08	TCGA-EJ-8472-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88471574-de05-44b5-a205-0a9a7a09c8a7	67774a5a-071c-4f47-93de-783d4e514308	g.chr8:38834065G>A	ENST00000302495.4	+	3	678	c.578G>A	c.(577-579)gGc>gAc	p.G193D		NM_153692.3	NP_710159.1	P83105	HTRA4_HUMAN	HtrA serine peptidase 4	193					negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|proteolysis (GO:0006508)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)	endopeptidase activity (GO:0004175)|serine-type endopeptidase activity (GO:0004252)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|upper_aerodigestive_tract(1)	11		all_lung(54;0.0344)|Hepatocellular(245;0.0512)|Lung NSC(58;0.0955)	LUSC - Lung squamous cell carcinoma(45;1.5e-07)			TTACTTCACGGCAGCAGGCTT	0.473																																						ENST00000302495.4																			0				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|upper_aerodigestive_tract(1)	11						c.(577-579)gGc>gAc		HtrA serine peptidase 4							109	102	105					8																	38834065		2203	4300	6503	SO:0001583	missense	203100				proteolysis|regulation of cell growth	extracellular region	insulin-like growth factor binding|serine-type endopeptidase activity	g.chr8:38834065G>A	AK075205	CCDS6110.1	8p11.23	2008-02-05			ENSG00000169495	ENSG00000169495			26909	protein-coding gene	gene with protein product		610700					Standard	NM_153692		Approved	FLJ90724	uc003xmj.3	P83105	OTTHUMG00000164070	ENST00000302495.4:c.578G>A	8.37:g.38834065G>A	ENSP00000305919:p.Gly193Asp						p.G193D	NM_153692.3	NP_710159.1	P83105	HTRA4_HUMAN	LUSC - Lung squamous cell carcinoma(45;1.5e-07)		3	678	+		all_lung(54;0.0344)|Hepatocellular(245;0.0512)|Lung NSC(58;0.0955)	193					Q542Z4|Q6PF13	Missense_Mutation	SNP	ENST00000302495.4	37	c.578G>A	CCDS6110.1	.	.	.	.	.	.	.	.	.	.	G	8.610	0.888998	0.17540	.	.	ENSG00000169495	ENST00000302495	D	0.87179	-2.22	5.53	-0.812	0.10853	Peptidase cysteine/serine, trypsin-like (1);	0.719368	0.13455	N	0.386563	T	0.76321	0.3971	L	0.44542	1.39	0.09310	N	1	P	0.39022	0.655	B	0.29353	0.101	T	0.62784	-0.6781	10	0.40728	T	0.16	-11.1514	7.7402	0.28837	0.2166:0.486:0.2974:0.0	.	193	P83105	HTRA4_HUMAN	D	193	ENSP00000305919:G193D	ENSP00000305919:G193D	G	+	2	0	HTRA4	38953222	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	0.793000	0.26944	-0.491000	0.06697	0.555000	0.69702	GGC		0.473	HTRA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377077.1	NM_153692		29	24	0	0	0	0.740014	0	29	24					A	38834065	G	A	38834065	3	1	109	1	0	0	0	0	1	0	0	0	7456	1203	42	3	588	3	HTRA4	8	38834065	Missense_Mutation	SNP	G	TCGA-EJ-8472-01A-11D-2395-08		38834065	107529957	28	5943											
VCPIP1	80124	broad.mit.edu	37	chr8	67578649	67578649	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggaggcttccggagcggtccTtgccatagcccacagtgtta	7	9	13	12	2	0	0	0	0	0	0	2	2	2	2	4	4	3	2	4	4	2	4	rs147256539		TCGA-EJ-8472-01A-11D-2395-08	TCGA-EJ-8472-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88471574-de05-44b5-a205-0a9a7a09c8a7	67774a5a-071c-4f47-93de-783d4e514308	g.chr8:67578649T>C	ENST00000310421.4	-	1	803	c.545A>G	c.(544-546)aAg>aGg	p.K182R	C8orf44_ENST00000519561.1_5'Flank|C8orf44-SGK3_ENST00000519289.1_5'Flank|C8orf44_ENST00000521889.1_5'Flank	NM_025054.4	NP_079330.2	Q96JH7	VCIP1_HUMAN	valosin containing protein (p97)/p47 complex interacting protein 1	182					endoplasmic reticulum membrane fusion (GO:0016320)|Golgi reassembly (GO:0090168)|mitotic nuclear division (GO:0007067)|protein K11-linked deubiquitination (GO:0035871)|protein K48-linked deubiquitination (GO:0071108)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)	ubiquitin-specific protease activity (GO:0004843)			breast(7)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(6)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		Lung NSC(129;0.142)|all_lung(136;0.227)	Epithelial(68;0.000771)|OV - Ovarian serous cystadenocarcinoma(28;0.00248)|all cancers(69;0.00296)|BRCA - Breast invasive adenocarcinoma(89;0.149)			GGAGCGGTCCTTGCCATAGCC	0.547																																					NSCLC(179;265 2915 6144 43644)	ENST00000310421.4																			0				breast(7)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(6)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						c.(544-546)aAg>aGg		valosin containing protein (p97)/p47 complex interacting protein 1		T	ARG/LYS	0,4406		0,0,2203	129	124	126		545	6	1	8	dbSNP_134	126	1,8599	1.2+/-3.3	0,1,4299	no	missense	VCPIP1	NM_025054.4	26	0,1,6502	CC,CT,TT		0.0116,0.0,0.0077	possibly-damaging	182/1223	67578649	1,13005	2203	4300	6503	SO:0001583	missense	80124				protein ubiquitination	endoplasmic reticulum|Golgi stack	ubiquitin-specific protease activity	g.chr8:67578649T>C	AB058753	CCDS6192.1	8q13	2014-02-24			ENSG00000175073	ENSG00000175073		"OTU domain containing"	30897	protein-coding gene	gene with protein product		611745				11347906, 12509440	Standard	NM_025054		Approved	VCIP135, KIAA1850, FLJ23132, DUBA3	uc003xwn.3	Q96JH7	OTTHUMG00000164560	ENST00000310421.4:c.545A>G	8.37:g.67578649T>C	ENSP00000309031:p.Lys182Arg						p.K182R	NM_025054.4	NP_079330.2	Q96JH7	VCIP1_HUMAN	Epithelial(68;0.000771)|OV - Ovarian serous cystadenocarcinoma(28;0.00248)|all cancers(69;0.00296)|BRCA - Breast invasive adenocarcinoma(89;0.149)		1	803	-		Lung NSC(129;0.142)|all_lung(136;0.227)	182					Q504T4|Q86T93|Q86W01|Q8N3A9|Q9H5R8	Missense_Mutation	SNP	ENST00000310421.4	37	c.545A>G	CCDS6192.1	.	.	.	.	.	.	.	.	.	.	T	8.558	0.877171	0.17395	0.0	1.16E-4	ENSG00000175073	ENST00000310421	T	0.34275	1.37	5.96	5.96	0.96718	.	0.104266	0.64402	D	0.000003	T	0.20536	0.0494	N	0.05230	-0.09	0.43304	D	0.995302	B	0.12630	0.006	B	0.12837	0.008	T	0.11665	-1.0578	10	0.16420	T	0.52	-14.0137	16.4484	0.83959	0.0:0.0:0.0:1.0	.	182	Q96JH7	VCIP1_HUMAN	R	182	ENSP00000309031:K182R	ENSP00000309031:K182R	K	-	2	0	VCPIP1	67741203	1.000000	0.71417	1.000000	0.80357	0.934000	0.57294	2.828000	0.48120	2.285000	0.76669	0.533000	0.62120	AAG		0.547	VCPIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379227.1			91	132	0	0	0	0.870114	0	91	132					C	67578649	T	C	67578649	3	2	109	1	0	0	0	0	1	0	0	0	17138	1609	56	4	3135	4	VCPIP1	8	67578649	Missense_Mutation	SNP	T	TCGA-EJ-8472-01A-11D-2395-08	28744584	67578649	78785373	29	5944											
ARFGEF1	10565	broad.mit.edu	37	chr8	68123726	68123726	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gaaataactcacttgctgtaGatttaattttgctgacttct	11	17	6	7	0	2	2	1	1	1	1	2	3	2	2	0	0	3	3	0	0	4	8			TCGA-EJ-8472-01A-11D-2395-08	TCGA-EJ-8472-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88471574-de05-44b5-a205-0a9a7a09c8a7	67774a5a-071c-4f47-93de-783d4e514308	g.chr8:68123726G>A	ENST00000262215.3	-	34	5200	c.4811C>T	c.(4810-4812)tCt>tTt	p.S1604F	ARFGEF1_ENST00000520381.1_Missense_Mutation_p.S1058F|ARFGEF1_ENST00000518230.1_Missense_Mutation_p.S442F	NM_006421.4	NP_006412.2	Q9Y6D6	BIG1_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited)	1604					endomembrane system organization (GO:0010256)|exocytosis (GO:0006887)|Golgi organization (GO:0007030)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of Rho GTPase activity (GO:0034259)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein glycosylation in Golgi (GO:0090284)|positive regulation of wound healing (GO:0090303)|protein transport (GO:0015031)|regulation of ARF protein signal transduction (GO:0032012)|regulation of establishment of cell polarity (GO:2000114)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|small nuclear ribonucleoprotein complex (GO:0030532)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|guanyl-nucleotide exchange factor activity (GO:0005085)|myosin binding (GO:0017022)|protein kinase A regulatory subunit binding (GO:0034237)			breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)			ACTTGCTGTAGATTTAATTTT	0.313																																						ENST00000262215.3																			0				breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	65						c.(4810-4812)tCt>tTt		ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited)							45	46	46					8																	68123726		2203	4300	6503	SO:0001583	missense	10565				exocytosis|regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity|myosin binding	g.chr8:68123726G>A	AF084520	CCDS6199.1	8q13	2011-08-18	2011-08-18		ENSG00000066777	ENSG00000066777			15772	protein-coding gene	gene with protein product		604141				10212200, 8917509	Standard	NM_006421		Approved	DKFZP434L057, BIG1, ARFGEP1, p200	uc003xxo.2	Q9Y6D6	OTTHUMG00000164626	ENST00000262215.3:c.4811C>T	8.37:g.68123726G>A	ENSP00000262215:p.Ser1604Phe					ARFGEF1_ENST00000520381.1_Missense_Mutation_p.S1058F|ARFGEF1_ENST00000518230.1_Missense_Mutation_p.S442F	p.S1604F	NM_006421.4	NP_006412.2	Q9Y6D6	BIG1_HUMAN	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)		34	5200	-	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	1604					Q9NV46|Q9UFV2|Q9UNL0	Missense_Mutation	SNP	ENST00000262215.3	37	c.4811C>T	CCDS6199.1	.	.	.	.	.	.	.	.	.	.	G	14.12	2.442046	0.43326	.	.	ENSG00000066777	ENST00000520381;ENST00000262215;ENST00000518230	T;T;T	0.46819	0.86;0.86;0.86	5.23	4.34	0.51931	.	0.564019	0.17528	N	0.170974	T	0.37073	0.0990	L	0.29908	0.895	0.41117	D	0.985786	B;B;B	0.33073	0.396;0.022;0.38	B;B;B	0.32022	0.139;0.013;0.135	T	0.24977	-1.0145	10	0.48119	T	0.1	.	13.2649	0.60128	0.0:0.0:0.8316:0.1684	.	1604;1082;1058	Q9Y6D6;Q59FY5;E5RIF2	BIG1_HUMAN;.;.	F	1058;1604;442	ENSP00000428429:S1058F;ENSP00000262215:S1604F;ENSP00000430891:S442F	ENSP00000262215:S1604F	S	-	2	0	ARFGEF1	68286280	0.994000	0.37717	0.983000	0.44433	0.987000	0.75469	3.932000	0.56537	1.280000	0.44463	0.655000	0.94253	TCT		0.313	ARFGEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379441.4	NM_006421		18	36	0	0	0	0.592651	0	18	36					A	68123726	G	A	68123726	3	1	109	1	0	0	0	0	1	0	0	0	852	942	33	3	762	3	ARFGEF1	8	68123726	Missense_Mutation	SNP	G	TCGA-EJ-8472-01A-11D-2395-08	545077	68123726	78240296	30	5945											
PKHD1L1	93035	broad.mit.edu	37	chr8	110420309	110420309	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcttggttatgaagtagtTgaagggaataatgtcacact	12	13	11	5	0	1	2	1	2	0	0	1	3	1	3	0	2	1	4	0	2	6	5			TCGA-EJ-8472-01A-11D-2395-08	TCGA-EJ-8472-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88471574-de05-44b5-a205-0a9a7a09c8a7	67774a5a-071c-4f47-93de-783d4e514308	g.chr8:110420309T>A	ENST00000378402.5	+	18	1949	c.1845T>A	c.(1843-1845)gtT>gtA	p.V615V		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	615					immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			ATGAAGTAGTTGAAGGGAATA	0.348										HNSCC(38;0.096)																												ENST00000378402.5																			0				NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263						c.(1843-1845)gtT>gtA		polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1							91	89	89					8																	110420309		1852	4092	5944	SO:0001819	synonymous_variant	93035				immune response	cytosol|extracellular space|integral to membrane	receptor activity	g.chr8:110420309T>A	AY219181	CCDS47911.1	8q23	2003-03-28			ENSG00000205038	ENSG00000205038			20313	protein-coding gene	gene with protein product		607843				12620974	Standard	NM_177531		Approved		uc003yne.3	Q86WI1	OTTHUMG00000164934	ENST00000378402.5:c.1845T>A	8.37:g.110420309T>A		HNSCC(38;0.096)					p.V615V	NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)		18	1949	+			615					Q567P2|Q9UF27	Silent	SNP	ENST00000378402.5	37	c.1845T>A	CCDS47911.1																																																																																				0.348	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381017.1	NM_177531		35	44	0	0	0	0.819951	0	35	44					A	110420309	T	A	110420309	2	1	109	1	0	0	0	0	0	0	0	1	11972	1799	63	5		5	PKHD1L1	8	110420309	Silent	SNP	T	TCGA-EJ-8472-01A-11D-2395-08	42296583	110420309	35943713	31	5946											
IFNA16	3449	broad.mit.edu	37	chr9	21216869	21216869	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aagagtgattctttgaaagtAtttcctcacagccaggatgg	12	12	10	7	0	2	3	1	2	1	1	3	4	3	4	2	2	1	1	2	2	3	4			TCGA-EJ-8472-01A-11D-2395-08	TCGA-EJ-8472-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88471574-de05-44b5-a205-0a9a7a09c8a7	67774a5a-071c-4f47-93de-783d4e514308	g.chr9:21216869A>G	ENST00000380216.1	-	1	441	c.436T>C	c.(436-438)Tac>Cac	p.Y146H		NM_002173.2	NP_002164.1	P05015	IFN16_HUMAN	interferon, alpha 16	146					adaptive immune response (GO:0002250)|B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|natural killer cell activation involved in immune response (GO:0002323)|positive regulation of peptidyl-serine phosphorylation of STAT protein (GO:0033141)|regulation of MHC class I biosynthetic process (GO:0045343)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to exogenous dsRNA (GO:0043330)|T cell activation involved in immune response (GO:0002286)|type I interferon signaling pathway (GO:0060337)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	cytokine activity (GO:0005125)|type I interferon receptor binding (GO:0005132)			central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)	13				Lung(24;2.12e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.116)		CTTTGAAAGTATTTCCTCACA	0.463																																						ENST00000380216.1																			0				central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)	13						c.(436-438)Tac>Cac		interferon, alpha 16							227	218	221					9																	21216869		2203	4300	6503	SO:0001583	missense	3449				blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|interferon-alpha/beta receptor binding	g.chr9:21216869A>G		CCDS34996.1	9p22	2010-12-10			ENSG00000147885	ENSG00000147885		"Interferons"	5421	protein-coding gene	gene with protein product		147580				1385305	Standard	NM_002173		Approved	IFN-alphaO	uc003zor.1	P05015	OTTHUMG00000019663	ENST00000380216.1:c.436T>C	9.37:g.21216869A>G	ENSP00000369564:p.Tyr146His						p.Y146H	NM_002173.2	NP_002164.1	P05015	IFN16_HUMAN		Lung(24;2.12e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.116)	1	441	-			146					Q5VV12	Missense_Mutation	SNP	ENST00000380216.1	37	c.436T>C	CCDS34996.1	.	.	.	.	.	.	.	.	.	.	-	12.47	1.947443	0.34377	.	.	ENSG00000147885	ENST00000380216	T	0.17054	2.3	2.62	-1.8	0.07907	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	0.000000	0.85682	D	0.000000	T	0.46288	0.1385	H	0.97214	3.96	0.09310	N	1	D	0.89917	1.0	D	0.97110	1.0	T	0.37197	-0.9716	10	0.87932	D	0	.	3.437	0.07449	0.5415:0.2037:0.2548:0.0	.	146	P05015	IFN16_HUMAN	H	146	ENSP00000369564:Y146H	ENSP00000369564:Y146H	Y	-	1	0	IFNA16	21206869	0.520000	0.26250	0.004000	0.12327	0.081000	0.17604	0.916000	0.28651	-0.512000	0.06505	0.155000	0.16302	TAC		0.463	IFNA16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051892.1	NM_002173		192	273	0	0	0	0.870114	0	192	273					G	21216869	A	G	21216869	3	3	109	1	0	0	0	0	1	0	0	0	7535	449	16	4	137	4	IFNA16	9	21216869	Missense_Mutation	SNP	A	TCGA-EJ-8472-01A-11D-2395-08		21216869	119996562	32	5947											
SUSD1	64420	broad.mit.edu	37	chr9	114840902	114840902	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	attgtagttggtacccggacGtaggtccaagcacacctcgg	9	9	12	11	3	0	0	0	0	0	0	2	1	1	1	3	4	2	5	3	4	4	5			TCGA-EJ-8472-01A-11D-2395-08	TCGA-EJ-8472-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88471574-de05-44b5-a205-0a9a7a09c8a7	67774a5a-071c-4f47-93de-783d4e514308	g.chr9:114840902G>A	ENST00000374270.3	-	12	1841	c.1669C>T	c.(1669-1671)Cgt>Tgt	p.R557C	SUSD1_ENST00000374264.2_Missense_Mutation_p.R557C|SUSD1_ENST00000374263.3_Missense_Mutation_p.R557C	NM_022486.3	NP_071931.2	Q6UWL2	SUSD1_HUMAN	sushi domain containing 1	557						integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)		SUSD1/ROD1(2)	central_nervous_system(1)|endometrium(4)|large_intestine(8)|lung(11)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28						GTACCCGGACGTAGGTCCAAG	0.498																																						ENST00000374270.3																		SUSD1/ROD1(2)	0				central_nervous_system(1)|endometrium(4)|large_intestine(8)|lung(11)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28						c.(1669-1671)Cgt>Tgt		sushi domain containing 1							150	144	146					9																	114840902		2203	4300	6503	SO:0001583	missense	64420					integral to membrane	calcium ion binding	g.chr9:114840902G>A	AL137432	CCDS6783.1, CCDS65105.1, CCDS65106.1	9q31.3-q33.1	2008-02-05			ENSG00000106868	ENSG00000106868			25413	protein-coding gene	gene with protein product						12975309	Standard	NM_022486		Approved	DKFZP761E1824	uc004bfu.3	Q6UWL2	OTTHUMG00000020499	ENST00000374270.3:c.1669C>T	9.37:g.114840902G>A	ENSP00000363388:p.Arg557Cys					SUSD1_ENST00000374264.2_Missense_Mutation_p.R557C|SUSD1_ENST00000374263.3_Missense_Mutation_p.R557C	p.R557C	NM_022486.3	NP_071931.2	Q6UWL2	SUSD1_HUMAN			12	1841	-			557					A1A4C5|A8KA03|Q5T8V6|Q5T8V7|Q6P9G7|Q8WU83|Q96DM9|Q9H6V2|Q9NTA7	Missense_Mutation	SNP	ENST00000374270.3	37	c.1669C>T	CCDS6783.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	3.307|3.307	-0.141695|-0.141695	0.06669|0.06669	.|.	.|.	ENSG00000106868|ENSG00000106868	ENST00000374270;ENST00000374263;ENST00000374264|ENST00000355396	T;T;T|.	0.30714|.	1.52;1.52;1.52|.	4.96|4.96	0.765|0.765	0.18470|0.18470	.|.	2.196340|.	0.01674|.	N|.	0.025758|.	T|T	0.13670|0.13670	0.0331|0.0331	N|N	0.04508|0.04508	-0.205|-0.205	0.09310|0.09310	N|N	1|1	B;B;B|.	0.11235|.	0.004;0.004;0.003|.	B;B;B|.	0.06405|.	0.002;0.001;0.0|.	T|T	0.27020|0.27020	-1.0086|-1.0086	10|5	0.38643|.	T|.	0.18|.	0.8854|0.8854	4.6038|4.6038	0.12366|0.12366	0.1775:0.0:0.5:0.3226|0.1775:0.0:0.5:0.3226	.|.	557;557;557|.	F8WAQ1;Q6UWL2-2;Q6UWL2|.	.;.;SUSD1_HUMAN|.	C|M	557|540	ENSP00000363388:R557C;ENSP00000363381:R557C;ENSP00000363382:R557C|.	ENSP00000363381:R557C|.	R|T	-|-	1|2	0|0	SUSD1|SUSD1	113880723|113880723	0.045000|0.045000	0.20229|0.20229	0.064000|0.064000	0.19789|0.19789	0.036000|0.036000	0.12997|0.12997	0.642000|0.642000	0.24735|0.24735	0.180000|0.180000	0.19960|0.19960	0.645000|0.645000	0.84053|0.84053	CGT|ACG		0.498	SUSD1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053668.3	NM_022486		51	143	0	0	0	0.870114	0	51	143					A	114840902	G	A	114840902	3	1	109	1	0	0	0	0	1	0	0	0	15404	1145	40	1	598	1	SUSD1	9	114840902	Missense_Mutation	SNP	G	TCGA-EJ-8472-01A-11D-2395-08	93624033	114840902	26372529	33	5948											
CYP2C8	1558	broad.mit.edu	37	chr10	96827286	96827286	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acagaaatatgtgcacctacCaagtcctttagtaattcttt	13	14	5	9	0	1	1	0	0	1	1	2	1	2	1	3	0	2	2	3	0	6	7			TCGA-EJ-8472-01A-11D-2395-08	TCGA-EJ-8472-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88471574-de05-44b5-a205-0a9a7a09c8a7	67774a5a-071c-4f47-93de-783d4e514308	g.chr10:96827286C>A	ENST00000371270.3	-	2	425	c.331G>T	c.(331-333)Gga>Tga	p.G111*	CYP2C8_ENST00000535898.1_Intron|CYP2C8_ENST00000539050.1_5'UTR	NM_000770.3|NM_001198853.1|NM_001198855.1	NP_000761.3|NP_001185782.1|NP_001185784.1	P10632	CP2C8_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 8	111					arachidonic acid metabolic process (GO:0019369)|drug metabolic process (GO:0017144)|epoxygenase P450 pathway (GO:0019373)|exogenous drug catabolic process (GO:0042738)|omega-hydroxylase P450 pathway (GO:0097267)|organic acid metabolic process (GO:0006082)|oxidation-reduction process (GO:0055114)|oxidative demethylation (GO:0070989)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	aromatase activity (GO:0070330)|caffeine oxidase activity (GO:0034875)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)			breast(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|skin(3)	21		Colorectal(252;0.0397)		all cancers(201;6.21e-05)	Abiraterone(DB05812)|Acetaminophen(DB00316)|Acetylsalicylic acid(DB00945)|Almotriptan(DB00918)|Aminophenazone(DB01424)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amodiaquine(DB00613)|Amprenavir(DB00701)|Antipyrine(DB01435)|Apixaban(DB06605)|Atorvastatin(DB01076)|Azelastine(DB00972)|Benzyl alcohol(DB06770)|Bezafibrate(DB01393)|Bortezomib(DB00188)|Brompheniramine(DB00835)|Buprenorphine(DB00921)|Bupropion(DB01156)|Cabazitaxel(DB06772)|Caffeine(DB00201)|Candesartan(DB00796)|Carbamazepine(DB00564)|Carbinoxamine(DB00748)|Chloramphenicol(DB00446)|Chloroquine(DB00608)|Cholecalciferol(DB00169)|Cimetidine(DB00501)|Cisapride(DB00604)|Clopidogrel(DB00758)|Clotrimazole(DB00257)|Clozapine(DB00363)|Cocaine(DB00907)|Colchicine(DB01394)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dabrafenib(DB08912)|Dapsone(DB00250)|Delavirdine(DB00705)|Dexamethasone(DB01234)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Diazepam(DB00829)|Diclofenac(DB00586)|Diethylstilbestrol(DB00255)|Diltiazem(DB00343)|Domperidone(DB01184)|Eltrombopag(DB06210)|Enzalutamide(DB08899)|Erlotinib(DB00530)|Estradiol(DB00783)|Eszopiclone(DB00402)|Ethinyl Estradiol(DB00977)|Etoposide(DB00773)|Felodipine(DB01023)|Fenofibrate(DB01039)|Fluorouracil(DB00544)|Fluvastatin(DB01095)|Fosphenytoin(DB01320)|Gemfibrozil(DB01241)|Halofantrine(DB01218)|Hydrocortisone(DB00741)|Ibuprofen(DB01050)|Ifosfamide(DB01181)|Irbesartan(DB01029)|Isoniazid(DB00951)|Ketamine(DB01221)|Ketobemidone(DB06738)|Ketoconazole(DB01026)|Ketoprofen(DB01009)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Levomilnacipran(DB08918)|Levothyroxine(DB00451)|Lidocaine(DB00281)|Liotrix(DB01583)|Loperamide(DB00836)|Loratadine(DB00455)|Losartan(DB00678)|Lovastatin(DB00227)|Medroxyprogesterone Acetate(DB00603)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Methadone(DB00333)|Metronidazole(DB00916)|Mirtazapine(DB00370)|Mometasone(DB00764)|Montelukast(DB00471)|Morphine(DB00295)|Mycophenolate mofetil(DB00688)|Naloxone(DB01183)|Naproxen(DB00788)|Nicardipine(DB00622)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nilutamide(DB00665)|Nilvadipine(DB06712)|Omeprazole(DB00338)|Oxybutynin(DB01062)|Paclitaxel(DB01229)|Paramethadione(DB00617)|Paroxetine(DB00715)|Pazopanib(DB06589)|Pentamidine(DB00738)|Perphenazine(DB00850)|Phenelzine(DB00780)|Phenobarbital(DB01174)|Phenprocoumon(DB00946)|Phenytoin(DB00252)|Pioglitazone(DB01132)|Piroxicam(DB00554)|Pitavastatin(DB08860)|Ponatinib(DB08901)|Pravastatin(DB00175)|Primidone(DB00794)|Probenecid(DB01032)|Progesterone(DB00396)|Propafenone(DB01182)|Propofol(DB00818)|Pyrimethamine(DB00205)|Quinidine(DB00908)|Quinine(DB00468)|Raloxifene(DB00481)|Regorafenib(DB08896)|Repaglinide(DB00912)|Rifampicin(DB01045)|Rifapentine(DB01201)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Salmeterol(DB00938)|Saquinavir(DB01232)|Secobarbital(DB00418)|Selegiline(DB01037)|Simvastatin(DB00641)|Sitagliptin(DB01261)|Sorafenib(DB00398)|Spironolactone(DB00421)|Sulfadiazine(DB00359)|Sulfamethoxazole(DB01015)|Sulfaphenazole(DB06729)|Sulfinpyrazone(DB01138)|Tamoxifen(DB00675)|Tazarotene(DB00799)|Temazepam(DB00231)|Terbinafine(DB00857)|Testosterone(DB00624)|Theophylline(DB00277)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tioconazole(DB01007)|Tolbutamide(DB01124)|Torasemide(DB00214)|Trametinib(DB08911)|Tretinoin(DB00755)|Triazolam(DB00897)|Trimethadione(DB00347)|Trimethoprim(DB00440)|Troleandomycin(DB01361)|Valproic Acid(DB00313)|Verapamil(DB00661)|Vismodegib(DB08828)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zidovudine(DB00495)|Zopiclone(DB01198)	GTGCACCTACCAAGTCCTTTA	0.448																																						ENST00000371270.3																			0				breast(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|skin(3)	21						c.e2+1		cytochrome P450, family 2, subfamily C, polypeptide 8	Aminophenazone(DB01424)|Amiodarone(DB01118)|Amodiaquine(DB00613)|Benzphetamine(DB00865)|Carbamazepine(DB00564)|Cerivastatin(DB00439)|Diclofenac(DB00586)|Fluvastatin(DB01095)|Fosphenytoin(DB01320)|Gemfibrozil(DB01241)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Lovastatin(DB00227)|Midazolam(DB00683)|Montelukast(DB00471)|Nicardipine(DB00622)|Paclitaxel(DB01229)|Phenytoin(DB00252)|Pioglitazone(DB01132)|Repaglinide(DB00912)|Rifampin(DB01045)|Rosiglitazone(DB00412)|Simvastatin(DB00641)|Sitagliptin(DB01261)|Tolbutamide(DB01124)|Torasemide(DB00214)|Tretinoin(DB00755)|Trimethoprim(DB00440)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zopiclone(DB01198)						111	109	110					10																	96827286		2203	4300	6503	SO:0001630	splice_region_variant	1558				exogenous drug catabolic process|organic acid metabolic process|oxidative demethylation|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|caffeine oxidase activity|electron carrier activity|heme binding|oxygen binding	g.chr10:96827286C>A	M17397	CCDS7438.1, CCDS55721.1, CCDS73166.1	10q24.1	2007-12-14	2003-01-14		ENSG00000138115	ENSG00000138115		"Cytochrome P450s"	2622	protein-coding gene	gene with protein product		601129	"cytochrome P450, subfamily IIC (mephenytoin 4-hydroxylase), polypeptide 8"			7841444	Standard	NM_001198853		Approved	CPC8	uc001kkb.3	P10632	OTTHUMG00000018804	ENST00000371270.3:c.331+1G>T	10.37:g.96827286C>A						CYP2C8_ENST00000535898.1_Intron|CYP2C8_ENST00000539050.1_5'UTR	p.G111_splice	NM_000770.3|NM_001198853.1|NM_001198855.1	NP_000761.3|NP_001185782.1|NP_001185784.1	P10632	CP2C8_HUMAN		all cancers(201;6.21e-05)	2	425	-		Colorectal(252;0.0397)	111					A8K9N8|B0AZN2|B7Z1F6|Q5VX93|Q8WWB1|Q9UCZ9	Splice_Site	SNP	ENST00000371270.3	37	c.331_splice	CCDS7438.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.32|18.32	3.598566|3.598566	0.66332|0.66332	.|.	.|.	ENSG00000138115|ENSG00000138115	ENST00000371270|ENST00000535868	.|.	.|.	.|.	4.63|4.63	4.63|4.63	0.57726|0.57726	.|.	0.000000|.	0.64402|.	U|.	0.000001|.	.|T	.|0.66228	.|0.2768	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.61227	.|-0.7105	.|5	0.87932|0.22109	D|T	0|0.4	.|.	16.2015|16.2015	0.82084|0.82084	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	X|F	111|21	.|.	ENSP00000360317:G111X|ENSP00000437600:L21F	G|L	-|-	1|3	0|2	CYP2C8|CYP2C8	96817276|96817276	1.000000|1.000000	0.71417|0.71417	0.919000|0.919000	0.36401|0.36401	0.069000|0.069000	0.16628|0.16628	6.258000|6.258000	0.72487|0.72487	2.419000|2.419000	0.82065|0.82065	0.555000|0.555000	0.69702|0.69702	GGA|TTG		0.448	CYP2C8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049499.2	NM_000770	Nonsense_Mutation	21	173	1	0	1.50039e-11	0.608945	1.65926e-11	21	173					A	96827286	C	A	96827286	5	1	109	1	0	0	0	0	0	0	1	0	4167	608	21	5	1173	5	CYP2C8	10	96827286	Splice_Site	SNP	C	TCGA-EJ-8472-01A-11D-2395-08		96827286	38707461	34	5949											
HPS6	79803	broad.mit.edu	37	chr10	103826538	103826538	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcacattccgggcacctcAggctctggcctccatcctcc	6	8	8	19	1	2	0	1	0	1	0	6	0	6	0	6	3	1	3	6	3	0	1			TCGA-EJ-8472-01A-11D-2395-08	TCGA-EJ-8472-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88471574-de05-44b5-a205-0a9a7a09c8a7	67774a5a-071c-4f47-93de-783d4e514308	g.chr10:103826538A>C	ENST00000299238.5	+	1	1392	c.1307A>C	c.(1306-1308)cAg>cCg	p.Q436P		NM_024747.5	NP_079023.2	Q86YV9	HPS6_HUMAN	Hermansky-Pudlak syndrome 6	436					blood coagulation (GO:0007596)|melanocyte differentiation (GO:0030318)|organelle organization (GO:0006996)|protein localization to membrane (GO:0072657)	BLOC-2 complex (GO:0031084)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|membrane (GO:0016020)	GTP-dependent protein binding (GO:0030742)|Rab GTPase binding (GO:0017137)			endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|prostate(1)	11		Colorectal(252;0.122)		Epithelial(162;5.93e-08)|all cancers(201;1.03e-06)		CGGGCACCTCAGGCTCTGGCC	0.622									Hermansky-Pudlak syndrome																													ENST00000299238.5																			0				endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|prostate(1)	11						c.(1306-1308)cAg>cCg		Hermansky-Pudlak syndrome 6							49	53	52					10																	103826538		2203	4300	6503	SO:0001583	missense	79803	Hermansky-Pudlak syndrome	Familial Cancer Database	HPS, HPS1-8		cytosol|early endosome membrane|endoplasmic reticulum|microsome		g.chr10:103826538A>C	BC009258	CCDS7527.1	10q24.32	2014-06-18			ENSG00000166189	ENSG00000166189			18817	protein-coding gene	gene with protein product		607522				12548288	Standard	NM_024747		Approved	FLJ22501	uc001kuj.3	Q86YV9	OTTHUMG00000018945	ENST00000299238.5:c.1307A>C	10.37:g.103826538A>C	ENSP00000299238:p.Gln436Pro						p.Q436P	NM_024747.5	NP_079023.2	Q86YV9	HPS6_HUMAN		Epithelial(162;5.93e-08)|all cancers(201;1.03e-06)	1	1392	+		Colorectal(252;0.122)	436					Q5VV69|Q9H685	Missense_Mutation	SNP	ENST00000299238.5	37	c.1307A>C	CCDS7527.1	.	.	.	.	.	.	.	.	.	.	A	14.65	2.599392	0.46318	.	.	ENSG00000166189	ENST00000299238	T	0.77489	-1.1	5.27	4.08	0.47627	.	0.309345	0.31859	N	0.006942	T	0.69396	0.3106	L	0.51422	1.61	0.33902	D	0.638637	D	0.53745	0.962	B	0.42030	0.373	T	0.78526	-0.2170	10	0.49607	T	0.09	-14.828	8.3326	0.32195	0.6525:0.0:0.0:0.3475	.	436	Q86YV9	HPS6_HUMAN	P	436	ENSP00000299238:Q436P	ENSP00000299238:Q436P	Q	+	2	0	HPS6	103816528	1.000000	0.71417	1.000000	0.80357	0.755000	0.42902	4.206000	0.58473	2.216000	0.71823	0.459000	0.35465	CAG		0.622	HPS6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050018.2	NM_024747		24	125	0	0	0	0.639603	0	24	125					C	103826538	A	C	103826538	3	2	109	1	0	0	0	0	1	0	0	0	7343	188	7	5	1309	5	HPS6	10	103826538	Missense_Mutation	SNP	A	TCGA-EJ-8472-01A-11D-2395-08	6999252	103826538	31708209	35	5950											
GSTO2	119391	broad.mit.edu	37	chr10	106035064	106035064	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcccctattctcacaggaccCgcctcgtcctcaaggccaaa	9	7	7	18	2	2	0	2	0	1	0	5	1	3	1	6	2	0	0	6	2	3	2			TCGA-EJ-8472-01A-11D-2395-08	TCGA-EJ-8472-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88471574-de05-44b5-a205-0a9a7a09c8a7	67774a5a-071c-4f47-93de-783d4e514308	g.chr10:106035064C>A	ENST00000338595.2	+	3	435	c.115C>A	c.(115-117)Cgc>Agc	p.R39S	GSTO2_ENST00000450629.2_Missense_Mutation_p.R39S|GSTO2_ENST00000429569.2_Missense_Mutation_p.R11S|GSTO2_ENST00000477078.2_Intron|GSTO2_ENST00000369707.2_Missense_Mutation_p.R11S|GSTO2_ENST00000401888.2_Missense_Mutation_p.R39S	NM_183239.1	NP_899062.1	Q9H4Y5	GSTO2_HUMAN	glutathione S-transferase omega 2	39	GST N-terminal.				cellular response to arsenic-containing substance (GO:0071243)|glutathione derivative biosynthetic process (GO:1901687)|L-ascorbic acid metabolic process (GO:0019852)|oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	glutathione dehydrogenase (ascorbate) activity (GO:0045174)|glutathione transferase activity (GO:0004364)|methylarsonate reductase activity (GO:0050610)|oxidoreductase activity (GO:0016491)			NS(1)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	11		Colorectal(252;0.178)		Epithelial(162;1.14e-09)|all cancers(201;3.89e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0155)	Glutathione(DB00143)	TCACAGGACCCGCCTCGTCCT	0.622											OREG0020515	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000450629.2																			0				NS(1)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	11						c.(115-117)Cgc>Agc		glutathione S-transferase omega 2	Glutathione(DB00143)						65	72	70					10																	106035064		2203	4300	6503	SO:0001583	missense	119391				water-soluble vitamin metabolic process|xenobiotic metabolic process	cytosol	glutathione transferase activity	g.chr10:106035064C>A	AY191318	CCDS7556.1, CCDS53574.1, CCDS53575.1	10q25.1	2012-06-21			ENSG00000065621	ENSG00000065621	2.5.1.18, 1.8.5.1, 1.20.4.2	"Glutathione S-transferases / Soluble"	23064	protein-coding gene	gene with protein product		612314				12618591	Standard	NM_001191013		Approved		uc001kyb.3	Q9H4Y5	OTTHUMG00000019006	ENST00000338595.2:c.115C>A	10.37:g.106035064C>A	ENSP00000345023:p.Arg39Ser		OREG0020515	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1393	GSTO2_ENST00000401888.2_Missense_Mutation_p.R39S|GSTO2_ENST00000477078.2_Intron|GSTO2_ENST00000338595.2_Missense_Mutation_p.R39S|GSTO2_ENST00000369707.1_Missense_Mutation_p.R11S|GSTO2_ENST00000429569.2_Missense_Mutation_p.R11S	p.R39S	NM_001191013.1	NP_001177942.1	Q9H4Y5	GSTO2_HUMAN		Epithelial(162;1.14e-09)|all cancers(201;3.89e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0155)	3	743	+		Colorectal(252;0.178)	39			GST N-terminal.		A8K771|B4DJW6|E7ESD6|Q49TW5|Q5GM70|Q5JU15|Q86WP3	Missense_Mutation	SNP	ENST00000338595.2	37	c.115C>A	CCDS7556.1	.	.	.	.	.	.	.	.	.	.	C	15.95	2.985324	0.53934	.	.	ENSG00000065621	ENST00000369708;ENST00000338595;ENST00000450629;ENST00000401888;ENST00000369707;ENST00000429569	T;T;T;T;T	0.36878	1.23;1.23;1.23;1.23;1.23	5.6	4.65	0.58169	Glutathione S-transferase, N-terminal (2);Thioredoxin-like fold (2);	0.137725	0.64402	D	0.000005	T	0.64605	0.2613	M	0.90595	3.13	0.53688	D	0.999973	P;D;D;D	0.89917	0.808;0.983;1.0;0.999	P;D;D;D	0.76575	0.593;0.929;0.988;0.973	T	0.69971	-0.5000	10	0.62326	D	0.03	-22.9183	12.3271	0.55018	0.255:0.7449:0.0:0.0	.	11;39;39;39	B4DML4;B4DJW6;B4DU59;Q9H4Y5	.;.;.;GSTO2_HUMAN	S	39;39;39;39;11;11	ENSP00000345023:R39S;ENSP00000390986:R39S;ENSP00000386011:R39S;ENSP00000358721:R11S;ENSP00000407381:R11S	ENSP00000345023:R39S	R	+	1	0	GSTO2	106025054	0.707000	0.27866	0.857000	0.33713	0.273000	0.26683	1.212000	0.32394	2.786000	0.95864	0.563000	0.77884	CGC		0.622	GSTO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050210.2	NM_183239		4	101	1	0	0.217242	0.217242	0.224404	4	101					A	106035064	C	A	106035064	3	1	109	1	0	0	0	0	1	0	0	0	6843	652	23	5	121	5	GSTO2	10	106035064	Missense_Mutation	SNP	C	TCGA-EJ-8472-01A-11D-2395-08	2208526	106035064	29499683	36	5951											
MUC5B	727897	broad.mit.edu	37	chr11	1264675	1264675	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tagggaccacccacacacccCcagtgccgaacaccatggcc	11	3	8	19	1	0	0	0	0	0	0	0	2	0	1	7	2	2	0	7	2	2	1			TCGA-EJ-8472-01A-11D-2395-08	TCGA-EJ-8472-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88471574-de05-44b5-a205-0a9a7a09c8a7	67774a5a-071c-4f47-93de-783d4e514308	g.chr11:1264675C>A	ENST00000529681.1	+	31	6623	c.6565C>A	c.(6565-6567)Cca>Aca	p.P2189T	RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000447027.1_Missense_Mutation_p.P2192T	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	2189	11 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.				cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CCACACACCCCCAGTGCCGAA	0.667																																						ENST00000447027.1																			0				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137						c.(6574-6576)Cca>Aca		mucin 5B, oligomeric mucus/gel-forming							31	59	50					11																	1264675		1915	4022	5937	SO:0001583	missense	727897				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	g.chr11:1264675C>A	U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"Mucins"	7516	protein-coding gene	gene with protein product		600770	"mucin 5, subtype B, tracheobronchial"	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.6565C>A	11.37:g.1264675C>A	ENSP00000436812:p.Pro2189Thr					MUC5B_ENST00000529681.1_Missense_Mutation_p.P2189T|RP11-532E4.2_ENST00000532061.2_RNA	p.P2192T			Q9HC84	MUC5B_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)	31	6632	+		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	2189			11 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.		O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Missense_Mutation	SNP	ENST00000529681.1	37	c.6574C>A	CCDS44515.2	.	.	.	.	.	.	.	.	.	.	c	2.271	-0.367084	0.05069	.	.	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637;ENST00000406844	T;T	0.18338	2.22;2.4	1.95	-3.89	0.04193	.	.	.	.	.	T	0.05547	0.0146	N	0.03608	-0.345	0.09310	N	1	B;B	0.12630	0.006;0.006	B;B	0.04013	0.001;0.001	T	0.31223	-0.9951	9	0.87932	D	0	.	0.9397	0.01352	0.4259:0.2555:0.1646:0.154	.	2827;2192	A7Y9J9;E9PBJ0	.;.	T	2189;2192;2190;2204	ENSP00000436812:P2189T;ENSP00000415793:P2192T	ENSP00000343037:P2190T	P	+	1	0	MUC5B	1221251	0.000000	0.05858	0.000000	0.03702	0.023000	0.10783	-10.838000	0.00005	-1.597000	0.01609	0.195000	0.17529	CCA		0.667	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093		16	7	1	0	3.51602e-12	0.575678	3.98199e-12	16	7					A	1264675	C	A	1264675	3	1	109	1	0	0	0	0	1	0	0	0	9979	623	22	5	6696	5	MUC5B	11	1264675	Missense_Mutation	SNP	C	TCGA-EJ-8472-01A-11D-2395-08		1264675	133741841	37	5952											
ARL2	402	broad.mit.edu	37	chr11	64787952	64787952	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ggacctgcctggagcactgtCctctaacgccatccgcgagg	7	7	12	15	3	1	0	0	0	1	0	3	3	3	2	5	3	3	1	5	3	1	1			TCGA-EJ-8472-01A-11D-2395-08	TCGA-EJ-8472-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88471574-de05-44b5-a205-0a9a7a09c8a7	67774a5a-071c-4f47-93de-783d4e514308	g.chr11:64787952C>T	ENST00000246747.4	+	4	496	c.401C>T	c.(400-402)tCc>tTc	p.S134F	RP11-399J13.3_ENST00000301886.3_Intron|ARL2_ENST00000529384.1_Missense_Mutation_p.S134F|ARL2_ENST00000533729.1_Intron	NM_001667.3	NP_001658.2	P36404	ARL2_HUMAN	ADP-ribosylation factor-like 2	134					cell cycle (GO:0007049)|centrosome organization (GO:0051297)|GTP catabolic process (GO:0006184)|maintenance of protein location in nucleus (GO:0051457)|negative regulation of GTPase activity (GO:0034260)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of microtubule polymerization (GO:0031116)|regulation of microtubule polymerization (GO:0031113)|small GTPase mediated signal transduction (GO:0007264)|tight junction assembly (GO:0070830)|tubulin complex assembly (GO:0007021)	centrosome (GO:0005813)|extracellular vesicular exosome (GO:0070062)|lateral plasma membrane (GO:0016328)|mitochondrial intermembrane space (GO:0005758)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|GTPase inhibitor activity (GO:0005095)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)	5						GGAGCACTGTCCTCTAACGCC	0.532																																						ENST00000246747.4																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)	5						c.(400-402)tCc>tTc		ADP-ribosylation factor-like 2							45	38	41					11																	64787952		2200	4297	6497	SO:0001583	missense	402				cell cycle|centrosome organization|maintenance of protein location in nucleus|negative regulation of GTPase activity|positive regulation of cell-substrate adhesion|positive regulation of microtubule polymerization|small GTPase mediated signal transduction|tight junction assembly|tubulin complex assembly	centrosome|lateral plasma membrane|mitochondrial intermembrane space|nucleus	GTP binding|GTPase activity|GTPase inhibitor activity|protein binding	g.chr11:64787952C>T	AF493888	CCDS8088.1, CCDS55770.1	11q13	2014-05-09			ENSG00000213465	ENSG00000213465		"ADP-ribosylation factors-like", "ADP-ribosylation factors"	693	protein-coding gene	gene with protein product		601175				8415637, 9253601	Standard	NM_001667		Approved	ARFL2	uc001och.4	P36404	OTTHUMG00000165728	ENST00000246747.4:c.401C>T	11.37:g.64787952C>T	ENSP00000246747:p.Ser134Phe					ARL2_ENST00000533729.1_Intron|ARL2_ENST00000529384.1_Missense_Mutation_p.S134F|SNX15_ENST00000301886.3_Intron	p.S134F	NM_001667.3	NP_001658.2	P36404	ARL2_HUMAN			4	496	+			134					G3V184|Q9BUK8	Missense_Mutation	SNP	ENST00000246747.4	37	c.401C>T	CCDS8088.1	.	.	.	.	.	.	.	.	.	.	C	23.7	4.449155	0.84101	.	.	ENSG00000213465	ENST00000246747;ENST00000529384	T;T	0.68025	-0.3;-0.3	5.38	4.47	0.54385	Small GTP-binding protein domain (1);	0.144206	0.47852	U	0.000207	D	0.84192	0.5418	H	0.96080	3.765	0.80722	D	1	P	0.50066	0.931	P	0.57371	0.819	D	0.87858	0.2662	10	0.87932	D	0	-13.4656	11.6199	0.51111	0.0:0.9131:0.0:0.0869	.	134	P36404	ARL2_HUMAN	F	134	ENSP00000246747:S134F;ENSP00000436021:S134F	ENSP00000246747:S134F	S	+	2	0	ARL2	64544528	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.176000	0.65026	1.273000	0.44346	0.491000	0.48974	TCC		0.532	ARL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385963.1	NM_001667		8	22	0	0	0	0.411799	0	8	22					T	64787952	C	T	64787952	3	4	109	1	0	0	0	0	1	0	0	0	933	855	30	3	415	3	ARL2	11	64787952	Missense_Mutation	SNP	C	TCGA-EJ-8472-01A-11D-2395-08	63523277	64787952	70218564	38	5953											
CD248	57124	broad.mit.edu	37	chr11	66084381	66084381	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccaggaaggtgcggcgccGtgggaagagagcgtagcagc	9	4	18	10	4	0	1	0	0	0	1	1	4	1	3	2	4	4	2	2	4	3	1			TCGA-EJ-8472-01A-11D-2395-08	TCGA-EJ-8472-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88471574-de05-44b5-a205-0a9a7a09c8a7	67774a5a-071c-4f47-93de-783d4e514308	g.chr11:66084381G>A	ENST00000311330.3	-	1	134	c.118C>T	c.(118-120)Cgg>Tgg	p.R40W	RP11-867G23.13_ENST00000534065.1_RNA	NM_020404.2	NP_065137.1	Q9HCU0	CD248_HUMAN	CD248 molecule, endosialin	40	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				anatomical structure regression (GO:0060033)|cell migration (GO:0016477)|lymph node development (GO:0048535)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell apoptotic process (GO:2000353)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|extracellular matrix binding (GO:0050840)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	26						GTGCGGCGCCGTGGGAAGAGA	0.766																																						ENST00000311330.3																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	26						c.(118-120)Cgg>Tgg		CD248 molecule, endosialin	Cefalotin(DB00456)						4	5	5					11																	66084381		1580	3251	4831	SO:0001583	missense	57124					integral to membrane|proteinaceous extracellular matrix	calcium ion binding|sugar binding	g.chr11:66084381G>A	AF279142	CCDS8134.1	11q13	2006-04-12	2006-03-28	2005-02-11	ENSG00000174807	ENSG00000174807		"CD molecules"	18219	protein-coding gene	gene with protein product	"endosialin", "tumor endothelial marker 1"	606064	"CD164 sialomucin-like 1", "CD248 antigen, endosialin"	CD164L1		10947988, 11084048	Standard	NM_020404		Approved	TEM1	uc001ohm.1	Q9HCU0	OTTHUMG00000167073	ENST00000311330.3:c.118C>T	11.37:g.66084381G>A	ENSP00000308117:p.Arg40Trp					RP11-867G23.13_ENST00000534065.1_RNA	p.R40W	NM_020404.2	NP_065137.1	Q9HCU0	CD248_HUMAN			1	134	-			40			C-type lectin.		Q2M2V5|Q3SX55|Q96KB6	Missense_Mutation	SNP	ENST00000311330.3	37	c.118C>T	CCDS8134.1	.	.	.	.	.	.	.	.	.	.	g	12.40	1.927072	0.34002	.	.	ENSG00000174807	ENST00000311330	T	0.55234	0.53	3.63	0.234	0.15390	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (2);	0.481828	0.20015	N	0.101036	T	0.39627	0.1085	L	0.27053	0.805	0.28346	N	0.921136	D	0.60575	0.988	P	0.47206	0.541	T	0.37430	-0.9706	10	0.72032	D	0.01	-4.785	7.2253	0.26012	0.0:0.1624:0.5044:0.3332	.	40	Q9HCU0	CD248_HUMAN	W	40	ENSP00000308117:R40W	ENSP00000308117:R40W	R	-	1	2	CD248	65840957	0.775000	0.28604	0.144000	0.22314	0.052000	0.14988	2.813000	0.48002	0.203000	0.20529	-0.275000	0.10095	CGG		0.766	CD248-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392922.2	NM_020404		16	23	0	0	0	0.608945	0	16	23					A	66084381	G	A	66084381	3	1	109	1	0	0	0	0	1	0	0	0	2989	1144	40	1	2159	1	CD248	11	66084381	Missense_Mutation	SNP	G	TCGA-EJ-8472-01A-11D-2395-08	1296429	66084381	68922135	39	5954											
KRTAP5-7	440050	broad.mit.edu	37	chr11	71238615	71238615	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taaggggggctgtggttcttGtggctgctcccagtgcagct	4	12	16	9	0	1	0	0	0	1	0	2	0	2	0	1	5	3	6	1	5	1	3			TCGA-EJ-8472-01A-11D-2395-08	TCGA-EJ-8472-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88471574-de05-44b5-a205-0a9a7a09c8a7	67774a5a-071c-4f47-93de-783d4e514308	g.chr11:71238615G>A	ENST00000398536.4	+	1	303	c.269G>A	c.(268-270)tGt>tAt	p.C90Y		NM_001012503.1	NP_001012521.1	Q6L8G8	KRA57_HUMAN	keratin associated protein 5-7	90	7 X 4 AA repeats of C-C-X-P.					keratin filament (GO:0045095)				breast(1)|endometrium(1)|kidney(3)|lung(6)|ovary(1)	12						TGTGGTTCTTGTGgctgctcc	0.647																																						ENST00000398536.4																			0				breast(1)|endometrium(1)|kidney(3)|lung(6)|ovary(1)	12						c.(268-270)tGt>tAt		keratin associated protein 5-7							74	97	89					11																	71238615		2199	4294	6493	SO:0001583	missense	440050					keratin filament		g.chr11:71238615G>A	AB126076	CCDS41682.1	11q13.4	2008-02-05			ENSG00000244411	ENSG00000244411		"Keratin associated proteins"	23602	protein-coding gene	gene with protein product						15144888	Standard	NM_001012503		Approved	KRTAP5.7, KRTAP5-3	uc001oqq.1	Q6L8G8	OTTHUMG00000057570	ENST00000398536.4:c.269G>A	11.37:g.71238615G>A	ENSP00000417330:p.Cys90Tyr						p.C90Y	NM_001012503.1	NP_001012521.1	Q6L8G8	KRA57_HUMAN			1	303	+			90			7 X 4 AA repeats of C-C-X-P.		B2RNM3|Q701N5	Missense_Mutation	SNP	ENST00000398536.4	37	c.269G>A	CCDS41682.1	.	.	.	.	.	.	.	.	.	.	N	5.324	0.245132	0.10077	.	.	ENSG00000244411	ENST00000398536	T	0.01438	4.89	1.56	-0.879	0.10613	.	.	.	.	.	T	0.02342	0.0072	M	0.83223	2.63	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.40553	-0.9557	9	0.54805	T	0.06	.	2.6036	0.04872	0.3779:0.2657:0.3565:0.0	.	90	Q6L8G8	KRA57_HUMAN	Y	90	ENSP00000417330:C90Y	ENSP00000417330:C90Y	C	+	2	0	KRTAP5-7	70916263	1.000000	0.71417	0.000000	0.03702	0.026000	0.11368	3.535000	0.53575	-0.206000	0.10203	0.162000	0.16502	TGT		0.647	KRTAP5-7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127953.1			6	459	0	0	0	0.335167	0	6	459					A	71238615	G	A	71238615	3	1	109	1	0	0	0	0	1	0	0	0	8566	1377	48	3	271	3	KRTAP5-7	11	71238615	Missense_Mutation	SNP	G	TCGA-EJ-8472-01A-11D-2395-08	5154234	71238615	63767901	40	5955											
ADAMTS15	170689	broad.mit.edu	37	chr11	130340830	130340830	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctagcctccggaaagagctTccgggaggagcagtgtgagg	9	6	16	10	2	0	2	0	1	0	1	2	5	2	5	4	4	3	2	4	4	2	2			TCGA-EJ-8472-01A-11D-2395-08	TCGA-EJ-8472-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88471574-de05-44b5-a205-0a9a7a09c8a7	67774a5a-071c-4f47-93de-783d4e514308	g.chr11:130340830T>C	ENST00000299164.2	+	6	1736	c.1736T>C	c.(1735-1737)tTc>tCc	p.F579S		NM_139055.2	NP_620686.1	Q8TE58	ATS15_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 15	579	Cys-rich.					proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(16)|pancreas(1)|prostate(1)|skin(8)|urinary_tract(1)	36	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0631)|Lung(977;0.215)		GGAAAGAGCTTCCGGGAGGAG	0.612																																						ENST00000299164.2																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(16)|pancreas(1)|prostate(1)|skin(8)|urinary_tract(1)	36						c.(1735-1737)tTc>tCc		ADAM metallopeptidase with thrombospondin type 1 motif, 15							108	116	113					11																	130340830		2201	4296	6497	SO:0001583	missense	170689				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr11:130340830T>C	AJ315733	CCDS8488.1	11q25	2008-02-01	2005-08-19		ENSG00000166106	ENSG00000166106		"ADAM metallopeptidases with thrombospondin type 1 motif"	16305	protein-coding gene	gene with protein product		607509	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 15"			11867212	Standard	NM_139055		Approved		uc010scd.2	Q8TE58	OTTHUMG00000165657	ENST00000299164.2:c.1736T>C	11.37:g.130340830T>C	ENSP00000299164:p.Phe579Ser						p.F579S	NM_139055.2	NP_620686.1	Q8TE58	ATS15_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.0631)|Lung(977;0.215)	6	1736	+	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)	579			Cys-rich.		Q32MI6	Missense_Mutation	SNP	ENST00000299164.2	37	c.1736T>C	CCDS8488.1	.	.	.	.	.	.	.	.	.	.	T	21.9	4.212643	0.79240	.	.	ENSG00000166106	ENST00000299164	T	0.06371	3.31	5.78	5.78	0.91487	.	.	.	.	.	T	0.32971	0.0847	M	0.93550	3.43	0.58432	D	0.999999	D	0.71674	0.998	P	0.62298	0.9	T	0.45527	-0.9255	9	0.87932	D	0	.	16.1081	0.81237	0.0:0.0:0.0:1.0	.	579	Q8TE58	ATS15_HUMAN	S	579	ENSP00000299164:F579S	ENSP00000299164:F579S	F	+	2	0	ADAMTS15	129846040	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.192000	0.50989	2.194000	0.70268	0.533000	0.62120	TTC		0.612	ADAMTS15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385638.1	NM_139055		95	231	0	0	0	0.870114	0	95	231					C	130340830	T	C	130340830	3	2	109	1	0	0	0	0	1	0	0	0	260	1783	62	4	1758	4	ADAMTS15	11	130340830	Missense_Mutation	SNP	T	TCGA-EJ-8472-01A-11D-2395-08	59102215	130340830	4665686	41	5956											
GCN1L1	10985	broad.mit.edu	37	chr12	120602289	120602289	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gagcaccgccaccagagcccGgtggtactgcctgcaagcac	9	4	12	16	2	0	1	0	0	0	1	0	2	0	1	5	2	6	4	5	2	2	1			TCGA-EJ-8472-01A-11D-2395-08	TCGA-EJ-8472-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88471574-de05-44b5-a205-0a9a7a09c8a7	67774a5a-071c-4f47-93de-783d4e514308	g.chr12:120602289G>A	ENST00000300648.6	-	18	1711	c.1699C>T	c.(1699-1701)Cgg>Tgg	p.R567W		NM_006836.1	NP_006827	Q92616	GCN1L_HUMAN	GCN1 general control of amino-acid synthesis 1-like 1 (yeast)	567					regulation of translation (GO:0006417)|translation (GO:0006412)	cytoplasm (GO:0005737)|membrane (GO:0016020)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)			NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					ACCAGAGCCCGGTGGTACTGC	0.632																																						ENST00000300648.6																			0				NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94						c.(1699-1701)Cgg>Tgg		GCN1 general control of amino-acid synthesis 1-like 1 (yeast)							42	46	45					12																	120602289		1984	4143	6127	SO:0001583	missense	10985				regulation of translation	ribosome	protein binding|translation factor activity, nucleic acid binding	g.chr12:120602289G>A	U77700	CCDS41847.1	12q24.2	2008-07-03	2001-11-28						4199	protein-coding gene	gene with protein product		605614	"GCN1 (general control of amino-acid synthesis 1, yeast)-like 1"			9234705	Standard	NM_006836		Approved	KIAA0219, GCN1, GCN1L	uc001txo.3	Q92616	OTTHUMG00000169338	ENST00000300648.6:c.1699C>T	12.37:g.120602289G>A	ENSP00000300648:p.Arg567Trp						p.R567W	NM_006836.1	NP_006827.1	Q92616	GCN1L_HUMAN			18	1711	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		567					A8KAY1|O95001|O95651|Q6P2S3|Q86X65|Q8N5I5|Q8WU80|Q99736|Q9UE60	Missense_Mutation	SNP	ENST00000300648.6	37	c.1699C>T	CCDS41847.1	.	.	.	.	.	.	.	.	.	.	G	25.4	4.632653	0.87660	.	.	ENSG00000089154	ENST00000300648	T	0.05139	3.49	5.83	5.83	0.93111	Armadillo-like helical (1);Domain of unknown function DUF3554 (1);Armadillo-type fold (1);	0.203350	0.47093	D	0.000257	T	0.21468	0.0517	M	0.70275	2.135	0.53688	D	0.999972	D	0.71674	0.998	P	0.60345	0.873	T	0.00018	-1.2366	10	0.62326	D	0.03	.	15.6931	0.77469	0.0:0.0:0.8626:0.1374	.	567	Q92616	GCN1L_HUMAN	W	567	ENSP00000300648:R567W	ENSP00000300648:R567W	R	-	1	2	GCN1L1	119086672	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.997000	0.70646	2.769000	0.95229	0.655000	0.94253	CGG		0.632	GCN1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403592.1			53	87	0	0	0	0.870114	0	53	87					A	120602289	G	A	120602289	3	1	109	1	0	0	0	0	1	0	0	0	6299	1115	39	2	6480	2	GCN1L1	12	120602289	Missense_Mutation	SNP	G	TCGA-EJ-8472-01A-11D-2395-08		120602289	13249606	42	5957											
COG6	57511	broad.mit.edu	37	chr13	40239254	40239254	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cagcaaaggaacagactcaaGatttaatagtaaaaaccact	20	7	6	8	0	1	2	1	0	0	2	1	3	1	3	1	1	3	2	1	1	8	4			TCGA-EJ-8472-01A-11D-2395-08	TCGA-EJ-8472-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88471574-de05-44b5-a205-0a9a7a09c8a7	67774a5a-071c-4f47-93de-783d4e514308	g.chr13:40239254G>A	ENST00000455146.3	+	4	441	c.391G>A	c.(391-393)Gat>Aat	p.D131N	COG6_ENST00000416691.1_Missense_Mutation_p.D131N|MIR4305_ENST00000583252.1_RNA	NM_020751.2	NP_065802.1	Q9Y2V7	COG6_HUMAN	component of oligomeric golgi complex 6	131					glycosylation (GO:0070085)|intra-Golgi vesicle-mediated transport (GO:0006891)|protein transport (GO:0015031)	Golgi transport complex (GO:0017119)|membrane (GO:0016020)				NS(1)|kidney(2)|large_intestine(5)|lung(4)|skin(1)	13		Lung NSC(96;0.000124)|Breast(139;0.0199)|Prostate(109;0.0233)|Lung SC(185;0.0367)		all cancers(112;6.03e-09)|Epithelial(112;7e-07)|OV - Ovarian serous cystadenocarcinoma(117;0.00015)|BRCA - Breast invasive adenocarcinoma(63;0.00438)|GBM - Glioblastoma multiforme(144;0.0168)		ACAGACTCAAGATTTAATAGT	0.274																																						ENST00000416691.1																			0				NS(1)|kidney(2)|large_intestine(5)|lung(4)|skin(1)	13						c.(391-393)Gat>Aat		component of oligomeric golgi complex 6							53	57	56					13																	40239254		2201	4293	6494	SO:0001583	missense	57511				protein transport	Golgi membrane|Golgi transport complex		g.chr13:40239254G>A	AK026638	CCDS9370.1, CCDS45042.1	13q13.2	2011-08-01			ENSG00000133103	ENSG00000133103		"Components of oligomeric golgi complex"	18621	protein-coding gene	gene with protein product		606977				11980916	Standard	NM_020751		Approved	COD2, KIAA1134	uc001uxh.2	Q9Y2V7	OTTHUMG00000016768	ENST00000455146.3:c.391G>A	13.37:g.40239254G>A	ENSP00000397441:p.Asp131Asn					COG6_ENST00000455146.3_Missense_Mutation_p.D131N	p.D131N	NM_001145079.1	NP_001138551.1	Q9Y2V7	COG6_HUMAN		all cancers(112;6.03e-09)|Epithelial(112;7e-07)|OV - Ovarian serous cystadenocarcinoma(117;0.00015)|BRCA - Breast invasive adenocarcinoma(63;0.00438)|GBM - Glioblastoma multiforme(144;0.0168)	4	491	+		Lung NSC(96;0.000124)|Breast(139;0.0199)|Prostate(109;0.0233)|Lung SC(185;0.0367)	131					Q5T0U1|Q6AI19|Q86V49|Q9ULT5	Missense_Mutation	SNP	ENST00000455146.3	37	c.391G>A	CCDS9370.1	.	.	.	.	.	.	.	.	.	.	G	18.58	3.654631	0.67472	.	.	ENSG00000133103	ENST00000416691;ENST00000255468;ENST00000422759;ENST00000455146	T;T;T	0.56103	0.48;0.48;0.48	5.72	4.88	0.63580	.	0.088146	0.85682	D	0.000000	T	0.58892	0.2154	L	0.55103	1.725	0.80722	D	1	D;B	0.57257	0.979;0.339	P;B	0.55508	0.777;0.147	T	0.54977	-0.8212	10	0.19147	T	0.46	-10.1424	13.3081	0.60363	0.0764:0.0:0.9236:0.0	.	152;131	Q5T0U2;Q9Y2V7	.;COG6_HUMAN	N	131;162;131;131	ENSP00000403733:D131N;ENSP00000412877:D131N;ENSP00000397441:D131N	ENSP00000255468:D162N	D	+	1	0	COG6	39137254	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.945000	0.92985	1.434000	0.47414	0.591000	0.81541	GAT		0.274	COG6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044622.3			42	44	0	0	0	0.870114	0	42	44					A	40239254	G	A	40239254	3	1	109	1	0	0	0	0	1	0	0	0	3662	942	33	3	405	3	COG6	13	40239254	Missense_Mutation	SNP	G	TCGA-EJ-8472-01A-11D-2395-08		40239254	74930624	43	5958											
DEGS2	51466	broad.mit.edu	37	chr14	100613165	100613165	+	IGR	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agggccccagggagtcctcaAacacaaaatcccagagcacc	14	3	9	15	0	1	1	1	0	0	1	3	2	3	2	5	2	2	1	5	2	3	0			TCGA-EJ-8472-01A-11D-2395-08	TCGA-EJ-8472-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88471574-de05-44b5-a205-0a9a7a09c8a7	67774a5a-071c-4f47-93de-783d4e514308	g.chr14:100613165A>G	ENST00000402714.2	+	0	2353				DEGS2_ENST00000305631.5_Missense_Mutation_p.F302S|DEGS2_ENST00000553834.1_Silent_p.V54V|DEGS2_ENST00000557117.1_5'Flank			Q9UI08	EVL_HUMAN	Enah/Vasp-like						actin filament organization (GO:0007015)|actin polymerization or depolymerization (GO:0008154)|axon guidance (GO:0007411)|cell surface receptor signaling pathway (GO:0007166)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of ruffle assembly (GO:1900028)|nervous system development (GO:0007399)|organ morphogenesis (GO:0009887)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of stress fiber assembly (GO:0051496)|protein homotetramerization (GO:0051289)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|membrane (GO:0016020)	profilin binding (GO:0005522)|SH3 domain binding (GO:0017124)			cervix(1)|large_intestine(5)|lung(3)|ovary(3)|urinary_tract(2)	14		Melanoma(154;0.152)				GGAGTCCTCAAACACAAAATC	0.632																																						ENST00000305631.5																			0				breast(1)|lung(6)|skin(1)	8						c.(904-906)tTt>tCt		delta(4)-desaturase, sphingolipid 2							130	121	124					14																	100613165		2203	4300	6503	SO:0001628	intergenic_variant	123099				fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	sphingosine hydroxylase activity	g.chr14:100613165A>G	AF112209	CCDS9955.1	14q32.2	2014-08-13			ENSG00000196405	ENSG00000196405			20234	protein-coding gene	gene with protein product						10945997, 10993894	Standard	NM_016337		Approved	RNB6	uc001ygu.3	Q9UI08	OTTHUMG00000171530		14.37:g.100613165A>G						DEGS2_ENST00000553834.1_Silent_p.V54V	p.F302S	NM_206918.2	NP_996801.2	Q6QHC5	DEGS2_HUMAN			3	1480	-		Melanoma(154;0.212)	302					A8K105|O95884|Q7Z522|Q8TBV1|Q9UF25|Q9UIC2	Missense_Mutation	SNP	ENST00000402714.2	37	c.905T>C		.	.	.	.	.	.	.	.	.	.	A	18.26	3.585083	0.66105	.	.	ENSG00000168350	ENST00000305631	T	0.32515	1.45	4.86	3.69	0.42338	.	0.099712	0.64402	D	0.000001	T	0.59514	0.2199	M	0.89840	3.065	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	T	0.64279	-0.6445	10	0.66056	D	0.02	-21.6428	10.6255	0.45506	0.9228:0.0:0.0772:0.0	.	302	Q6QHC5	DEGS2_HUMAN	S	302	ENSP00000307126:F302S	ENSP00000307126:F302S	F	-	2	0	DEGS2	99682918	0.993000	0.37304	0.966000	0.40874	0.993000	0.82548	7.379000	0.79691	0.689000	0.31550	0.459000	0.35465	TTT		0.632	EVL-006	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000413958.1			59	108	0	0	0	0.870114	0	59	108					G	100613165	A	G	100613165	1	3	109	0	1	0	0	0	0	0	0	0	4423	14	1	4		4	DEGS2	14	100613165	IGR	SNP	A	TCGA-EJ-8472-01A-11D-2395-08		100613165	6736375	44	5959											
UNC13C	440279	broad.mit.edu	37	chr15	54306249	54306249	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	atacttgtgtactttgaaacCcctcaacaaagggattctgt	12	13	7	9	0	2	1	1	1	1	0	2	2	2	2	2	1	4	1	2	1	5	5			TCGA-EJ-8472-01A-11D-2395-08	TCGA-EJ-8472-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88471574-de05-44b5-a205-0a9a7a09c8a7	67774a5a-071c-4f47-93de-783d4e514308	g.chr15:54306249C>G	ENST00000260323.11	+	1	1149	c.1149C>G	c.(1147-1149)acC>acG	p.T383T	UNC13C_ENST00000545554.1_Silent_p.T383T|UNC13C_ENST00000537900.1_Silent_p.T383T	NM_001080534.1	NP_001074003.1	Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	383					exocytosis (GO:0006887)|intracellular signal transduction (GO:0035556)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		ACTTTGAAACCCCTCAACAAA	0.388																																						ENST00000545554.1																			0				breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121						c.(1147-1149)acC>acG		unc-13 homolog C (C. elegans)							73	69	70					15																	54306249		1830	4088	5918	SO:0001819	synonymous_variant	440279				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding	g.chr15:54306249C>G	AK091491	CCDS45264.1	15q21.3	2012-10-02			ENSG00000137766	ENSG00000137766			23149	protein-coding gene	gene with protein product		614568					Standard	NM_001080534		Approved	Munc13-3, DKFZp547H074	uc021smr.1	Q8NB66	OTTHUMG00000172542	ENST00000260323.11:c.1149C>G	15.37:g.54306249C>G						UNC13C_ENST00000537900.1_Silent_p.T383T|UNC13C_ENST00000260323.11_Silent_p.T383T	p.T383T			Q8NB66	UN13C_HUMAN		GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)	1	1149	+			383					Q0P613|Q8ND48|Q96NP3	Silent	SNP	ENST00000260323.11	37	c.1149C>G	CCDS45264.1																																																																																				0.388	UNC13C-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000419028.3	NM_173166		14	89	0	0	0	0.435327	0	14	89					G	54306249	C	G	54306249	2	3	109	1	0	0	0	0	0	0	0	1	16983	610	22	5		5	UNC13C	15	54306249	Silent	SNP	C	TCGA-EJ-8472-01A-11D-2395-08		54306249	48225143	45	5960											
MEF2A	4205	broad.mit.edu	37	chr15	100230590	100230590	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cagtaggaaaccagatcttcGagttgtcatccccccttcaa	11	10	7	13	1	3	1	2	0	1	1	5	3	4	2	4	1	1	2	4	1	3	4			TCGA-EJ-8472-01A-11D-2395-08	TCGA-EJ-8472-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88471574-de05-44b5-a205-0a9a7a09c8a7	67774a5a-071c-4f47-93de-783d4e514308	g.chr15:100230590G>A	ENST00000557785.1	+	8	1164	c.815G>A	c.(814-816)cGa>cAa	p.R272Q	MEF2A_ENST00000558812.1_Missense_Mutation_p.R204Q|MEF2A_ENST00000354410.5_Missense_Mutation_p.R274Q|MEF2A_ENST00000449277.2_Missense_Mutation_p.R204Q|MEF2A_ENST00000557942.1_Missense_Mutation_p.R272Q|MEF2A_ENST00000338042.6_Missense_Mutation_p.R272Q|MEF2A_ENST00000453228.2_Missense_Mutation_p.R272Q	NM_001171894.1	NP_001165365.1	Q02078	MEF2A_HUMAN	myocyte enhancer factor 2A	274	Required for interaction with MAPKs.				apoptotic process (GO:0006915)|cardiac conduction (GO:0061337)|cellular response to calcium ion (GO:0071277)|dendrite morphogenesis (GO:0048813)|ERK5 cascade (GO:0070375)|heart development (GO:0007507)|innate immune response (GO:0045087)|MAPK cascade (GO:0000165)|mitochondrial genome maintenance (GO:0000002)|mitochondrion distribution (GO:0048311)|muscle cell differentiation (GO:0042692)|muscle organ development (GO:0007517)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|ventricular cardiac myofibril assembly (GO:0055005)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	activating transcription factor binding (GO:0033613)|chromatin binding (GO:0003682)|histone acetyltransferase binding (GO:0035035)|histone deacetylase binding (GO:0042826)|protein heterodimerization activity (GO:0046982)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|SMAD binding (GO:0046332)			endometrium(2)|large_intestine(2)|lung(7)|ovary(1)	12	Lung NSC(78;0.00335)|all_lung(78;0.00659)|Melanoma(26;0.00778)|Medulloblastoma(229;0.163)		OV - Ovarian serous cystadenocarcinoma(32;0.00085)			CCAGATCTTCGAGTTGTCATC	0.433																																						ENST00000354410.5																			0				endometrium(2)|large_intestine(2)|lung(7)|ovary(1)	12						c.(820-822)cGa>cAa		myocyte enhancer factor 2A							61	59	60					15																	100230590		1901	4118	6019	SO:0001583	missense	0				apoptosis|BMK cascade|cardiac conduction|cellular response to calcium ion|dendrite morphogenesis|innate immune response|mitochondrial genome maintenance|mitochondrion distribution|muscle organ development|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|positive regulation of muscle cell differentiation|positive regulation of transcription from RNA polymerase II promoter|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|ventricular cardiac myofibril development	nuclear chromatin|nucleoplasm	activating transcription factor binding|histone acetyltransferase binding|histone deacetylase binding|protein heterodimerization activity|RNA polymerase II regulatory region sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity|SMAD binding	g.chr15:100230590G>A		CCDS45362.1, CCDS45363.1, CCDS53978.1, CCDS58401.1	15q26	2008-02-05	2007-04-24			ENSG00000068305		"Myocyte enhancer factors"	6993	protein-coding gene	gene with protein product		600660				1516833	Standard	NM_005587		Approved	RSRFC4, RSRFC9	uc002bvf.3	Q02078		ENST00000557785.1:c.815G>A	15.37:g.100230590G>A	ENSP00000453441:p.Arg272Gln					MEF2A_ENST00000558812.1_Missense_Mutation_p.R204Q|MEF2A_ENST00000557785.1_Missense_Mutation_p.R272Q|MEF2A_ENST00000449277.2_Missense_Mutation_p.R204Q|MEF2A_ENST00000557942.1_Missense_Mutation_p.R272Q|MEF2A_ENST00000338042.6_Missense_Mutation_p.R272Q|MEF2A_ENST00000453228.2_Missense_Mutation_p.R272Q	p.R274Q	NM_005587.2	NP_005578.2	Q02078	MEF2A_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.00085)		8	1450	+	Lung NSC(78;0.00335)|all_lung(78;0.00659)|Melanoma(26;0.00778)|Medulloblastoma(229;0.163)		274			Required for interaction with MAPKs.		B4DFQ7|F6XG23|O43814|Q14223|Q14224|Q59GX4|Q7Z6C9|Q96D14	Missense_Mutation	SNP	ENST00000557785.1	37	c.821G>A	CCDS53978.1	.	.	.	.	.	.	.	.	.	.	G	36	5.768549	0.96914	.	.	ENSG00000068305	ENST00000453228;ENST00000354410;ENST00000338042;ENST00000449277	T;T;T;T	0.38240	1.15;1.15;1.15;1.15	5.85	5.85	0.93711	.	0.000000	0.85682	D	0.000000	T	0.64864	0.2637	M	0.78456	2.415	0.45806	D	0.998682	D;D;D;D;D;D	0.89917	0.998;0.998;0.999;1.0;0.999;1.0	D;D;D;D;D;D	0.85130	0.992;0.99;0.974;0.996;0.997;0.988	T	0.66582	-0.5887	10	0.87932	D	0	-15.2928	20.1589	0.98128	0.0:0.0:1.0:0.0	.	274;204;193;272;274;272	Q02078;B4DFQ7;Q7Z6C9;Q02078-6;Q02078-5;Q02078-2	MEF2A_HUMAN;.;.;.;.;.	Q	272;274;272;204	ENSP00000404110:R272Q;ENSP00000346389:R274Q;ENSP00000337202:R272Q;ENSP00000399460:R204Q	ENSP00000337202:R272Q	R	+	2	0	MEF2A	98048113	1.000000	0.71417	0.996000	0.52242	0.993000	0.82548	7.647000	0.83462	2.769000	0.95229	0.650000	0.86243	CGA		0.433	MEF2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415985.1			22	25	0	0	0	0.667858	0	22	25					A	100230590	G	A	100230590	3	1	109	1	0	0	0	0	1	0	0	0	9455	1058	37	2	979	2	MEF2A	15	100230590	Missense_Mutation	SNP	G	TCGA-EJ-8472-01A-11D-2395-08	45924341	100230590	2300802	46	5961											
SALL1	6299	broad.mit.edu	37	chr16	51173983	51173983	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcattttcaaggcgctctggCagctgagaacccggtggcag	8	8	14	11	2	2	1	1	1	1	1	2	2	2	1	1	4	2	5	1	4	2	2			TCGA-EJ-8472-01A-11D-2395-08	TCGA-EJ-8472-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88471574-de05-44b5-a205-0a9a7a09c8a7	67774a5a-071c-4f47-93de-783d4e514308	g.chr16:51173983C>G	ENST00000251020.4	-	2	2183	c.2150G>C	c.(2149-2151)tGc>tCc	p.C717S	SALL1_ENST00000541611.1_Intron|SALL1_ENST00000566102.1_Intron|SALL1_ENST00000440970.1_Missense_Mutation_p.C620S	NM_002968.2	NP_002959.2	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	717					adrenal gland development (GO:0030325)|branching involved in ureteric bud morphogenesis (GO:0001658)|embryonic digestive tract development (GO:0048566)|embryonic digit morphogenesis (GO:0042733)|forelimb morphogenesis (GO:0035136)|gonad development (GO:0008406)|heart development (GO:0007507)|hindlimb morphogenesis (GO:0035137)|histone deacetylation (GO:0016575)|inductive cell-cell signaling (GO:0031129)|kidney development (GO:0001822)|kidney epithelium development (GO:0072073)|limb development (GO:0060173)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|olfactory bulb interneuron differentiation (GO:0021889)|olfactory bulb mitral cell layer development (GO:0061034)|olfactory nerve development (GO:0021553)|outer ear morphogenesis (GO:0042473)|pituitary gland development (GO:0021983)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of neural precursor cell proliferation (GO:2000177)|transcription, DNA-templated (GO:0006351)|ureteric bud development (GO:0001657)|ureteric bud invasion (GO:0072092)|ventricular septum development (GO:0003281)	chromocenter (GO:0010369)|cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			GGCGCTCTGGCAGCTGAGAAC	0.517																																					GBM(103;1352 1446 1855 4775 8890)	ENST00000440970.1																			0				NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126						c.(1858-1860)tGc>tCc		spalt-like transcription factor 1							67	68	67					16																	51173983		2198	4300	6498	SO:0001583	missense	6299				adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr16:51173983C>G	X98833	CCDS10747.1, CCDS45483.1	16q12.1	2014-09-17	2013-10-17		ENSG00000103449	ENSG00000103449		"Zinc fingers, C2H2-type"	10524	protein-coding gene	gene with protein product		602218	"sal (Drosophila)-like 1", "sal-like 1 (Drosophila)"	TBS		9425907	Standard	NM_002968		Approved	Hsal1, ZNF794	uc021tie.1	Q9NSC2	OTTHUMG00000133176	ENST00000251020.4:c.2150G>C	16.37:g.51173983C>G	ENSP00000251020:p.Cys717Ser					SALL1_ENST00000541611.1_Intron|SALL1_ENST00000566102.1_Intron|SALL1_ENST00000251020.4_Missense_Mutation_p.C717S	p.C620S	NM_001127892.1	NP_001121364.1	Q9NSC2	SALL1_HUMAN	COAD - Colon adenocarcinoma(2;0.24)		2	2290	-		all_cancers(37;0.0322)	717					Q99881|Q9NSC3|Q9P1R0	Missense_Mutation	SNP	ENST00000251020.4	37	c.1859G>C	CCDS10747.1	.	.	.	.	.	.	.	.	.	.	C	16.94	3.260925	0.59431	.	.	ENSG00000103449	ENST00000251020;ENST00000440970;ENST00000457559	T;T	0.07114	3.22;3.22	5.3	5.3	0.74995	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.30103	0.0754	M	0.83223	2.63	0.80722	D	1	P	0.47350	0.894	P	0.60541	0.876	T	0.03384	-1.1042	10	0.21540	T	0.41	.	19.0235	0.92923	0.0:1.0:0.0:0.0	.	717	Q9NSC2	SALL1_HUMAN	S	717;620;681	ENSP00000251020:C717S;ENSP00000407914:C620S	ENSP00000251020:C717S	C	-	2	0	SALL1	49731484	1.000000	0.71417	0.992000	0.48379	0.712000	0.41017	7.818000	0.86416	2.490000	0.84030	0.454000	0.30748	TGC		0.517	SALL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256883.2	NM_002968		50	86	0	0	0	0.870114	0	50	86					G	51173983	C	G	51173983	3	3	109	1	0	0	0	0	1	0	0	0	13810	710	25	5	1832	5	SALL1	16	51173983	Missense_Mutation	SNP	C	TCGA-EJ-8472-01A-11D-2395-08		51173983	39180770	47	5962											
CHST6	4166	broad.mit.edu	37	chr16	75513511	75513511	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtggtccacacgtgccacgcGggctccattaggtagaagac	9	7	13	12	3	0	2	0	0	0	2	2	2	2	2	3	3	1	2	3	3	3	2			TCGA-EJ-8472-01A-11D-2395-08	TCGA-EJ-8472-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88471574-de05-44b5-a205-0a9a7a09c8a7	67774a5a-071c-4f47-93de-783d4e514308	g.chr16:75513511G>A	ENST00000332272.4	-	3	395	c.216C>T	c.(214-216)ccC>ccT	p.P72P	RP11-77K12.4_ENST00000530512.3_RNA|CHST6_ENST00000390664.2_Silent_p.P72P	NM_021615.4	NP_067628.1	Q9GZX3	CHST6_HUMAN	carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 6	72			P -> S (in MCDC1). {ECO:0000269|PubMed:11818380, ECO:0000269|PubMed:15013869}.		carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|N-acetylglucosamine metabolic process (GO:0006044)|small molecule metabolic process (GO:0044281)|sulfur compound metabolic process (GO:0006790)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	N-acetylglucosamine 6-O-sulfotransferase activity (GO:0001517)			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						CGTGCCACGCGGGCTCCATTA	0.667																																						ENST00000332272.4																			0				central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						c.(214-216)ccC>ccT		carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 6							42	35	37					16																	75513511		2198	4300	6498	SO:0001819	synonymous_variant	4166				keratan sulfate biosynthetic process|N-acetylglucosamine metabolic process	Golgi membrane|integral to membrane	N-acetylglucosamine 6-O-sulfotransferase activity	g.chr16:75513511G>A	AF280086	CCDS10918.1	16q22	2008-02-05			ENSG00000183196	ENSG00000183196		"Sulfotransferases, membrane-bound"	6938	protein-coding gene	gene with protein product		605294		MCDC1		8644739, 11017086	Standard	NM_021615		Approved		uc002fef.3	Q9GZX3	OTTHUMG00000137612	ENST00000332272.4:c.216C>T	16.37:g.75513511G>A						RP11-77K12.4_ENST00000530512.3_RNA|CHST6_ENST00000390664.2_Silent_p.P72P	p.P72P	NM_021615.4	NP_067628.1	Q9GZX3	CHST6_HUMAN			3	395	-			72		P -> S (in MCD).			D3DUK3	Silent	SNP	ENST00000332272.4	37	c.216C>T	CCDS10918.1																																																																																				0.667	CHST6-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435478.1	NM_021615		22	19	0	0	0	0.639603	0	22	19					A	75513511	G	A	75513511	2	1	109	1	0	0	0	0	0	0	0	1	3408	1103	39	2		2	CHST6	16	75513511	Silent	SNP	G	TCGA-EJ-8472-01A-11D-2395-08	24339528	75513511	14841242	48	5963											
TP53	7157	broad.mit.edu	37	chr17	7578253	7578253	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aatactccacacgcaaatttCcttccactcggataagatgc	13	10	5	13	2	0	1	0	0	0	1	4	2	3	2	3	1	2	1	3	1	4	4			TCGA-EJ-8472-01A-11D-2395-08	TCGA-EJ-8472-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88471574-de05-44b5-a205-0a9a7a09c8a7	67774a5a-071c-4f47-93de-783d4e514308	g.chr17:7578253C>A	ENST00000269305.4	-	6	785	c.596G>T	c.(595-597)gGa>gTa	p.G199V	TP53_ENST00000420246.2_Missense_Mutation_p.G199V|TP53_ENST00000413465.2_Missense_Mutation_p.G199V|TP53_ENST00000574684.1_Intron|TP53_ENST00000455263.2_Missense_Mutation_p.G199V|TP53_ENST00000359597.4_Missense_Mutation_p.G199V|TP53_ENST00000445888.2_Missense_Mutation_p.G199V	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	199	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		G -> A (in a sporadic cancer; somatic mutation).|G -> E (in sporadic cancers; somatic mutation).|G -> R (in sporadic cancers; somatic mutation).|G -> V (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.G199E(11)|p.G199V(11)|p.0?(8)|p.?(5)|p.G106V(2)|p.G67V(2)|p.E198_L201>V(1)|p.N200fs*4(1)|p.E198fs*7(1)|p.G199A(1)|p.P191fs*6(1)|p.I195_G199delIRVEG(1)|p.G199fs*48(1)|p.G199fs*42(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	ACGCAAATTTCCTTCCACTCG	0.542		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"Mis, N, F"	tumor protein p53			"L, E, M, O"		"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"	"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"		47	Substitution - Missense(27)|Whole gene deletion(8)|Unknown(6)|Deletion - Frameshift(4)|Deletion - In frame(1)|Complex - frameshift(1)	p.G199E(11)|p.G199V(11)|p.0?(8)|p.?(5)|p.G106V(2)|p.G67V(2)|p.E198_L201>V(1)|p.N200fs*4(1)|p.E198fs*7(1)|p.G199A(1)|p.P191fs*6(1)|p.I195_G199delIRVEG(1)|p.G199fs*48(1)|p.G199fs*42(1)	central_nervous_system(8)|biliary_tract(6)|large_intestine(5)|breast(5)|peritoneum(4)|bone(4)|stomach(2)|haematopoietic_and_lymphoid_tissue(2)|urinary_tract(2)|oesophagus(2)|lung(2)|ovary(2)|upper_aerodigestive_tract(1)|soft_tissue(1)|pancreas(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185						c.(595-597)gGa>gTa	Other conserved DNA damage response genes	tumor protein p53							118	106	110					17																	7578253		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578253C>A	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"Li-Fraumeni syndrome"	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.596G>T	17.37:g.7578253C>A	ENSP00000269305:p.Gly199Val	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_ENST00000413465.2_Missense_Mutation_p.G199V|TP53_ENST00000574684.1_Intron|TP53_ENST00000455263.2_Missense_Mutation_p.G199V|TP53_ENST00000445888.2_Missense_Mutation_p.G199V|TP53_ENST00000269305.4_Missense_Mutation_p.G199V|TP53_ENST00000359597.4_Missense_Mutation_p.G199V	p.G199V	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	6	728	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	199		G -> A (in a sporadic cancer; somatic mutation).|G -> E (in sporadic cancers; somatic mutation).|G -> R (in sporadic cancers; somatic mutation).|G -> V (in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.596G>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	17.16	3.317964	0.60524	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99814	-6.89;-6.89;-6.89;-6.89;-6.89;-6.89;-6.89;-6.89	5.28	5.28	0.74379	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.052866	0.85682	D	0.000000	D	0.99792	0.9912	M	0.89095	3.005	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;0.987;1.0;1.0;1.0;1.0	D;D;P;D;D;D;D	0.97110	0.999;0.999;0.883;0.999;0.999;0.999;1.0	D	0.97102	0.9798	10	0.87932	D	0	-10.2871	16.7921	0.85592	0.0:1.0:0.0:0.0	.	160;199;199;106;199;199;199	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	V	199;199;199;199;199;199;188;106;67;106;67	ENSP00000410739:G199V;ENSP00000352610:G199V;ENSP00000269305:G199V;ENSP00000398846:G199V;ENSP00000391127:G199V;ENSP00000391478:G199V;ENSP00000425104:G67V;ENSP00000423862:G106V	ENSP00000269305:G199V	G	-	2	0	TP53	7518978	1.000000	0.71417	0.976000	0.42696	0.024000	0.10985	7.775000	0.85489	2.634000	0.89283	0.563000	0.77884	GGA		0.542	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		27	53	1	0	4.74835e-14	0.750413	5.51044e-14	27	53					A	7578253	C	A	7578253	3	1	109	1	0	0	0	0	1	0	0	0	16378	855	30	5	698	5	TP53	17	7578253	Missense_Mutation	SNP	C	TCGA-EJ-8472-01A-11D-2395-08		7578253	73616957	49	5964											
TP53	7157	broad.mit.edu	37	chr17	7578461	7578461	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtagatggccatggcgcggaCgcgggtgccgggcgggggtg	4	5	23	9	6	0	1	0	0	0	1	0	2	0	2	2	7	1	1	2	7	1	1	rs121912654		TCGA-EJ-8472-01A-11D-2395-08	TCGA-EJ-8472-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88471574-de05-44b5-a205-0a9a7a09c8a7	67774a5a-071c-4f47-93de-783d4e514308	g.chr17:7578461C>A	ENST00000269305.4	-	5	658	c.469G>T	c.(469-471)Gtc>Ttc	p.V157F	TP53_ENST00000420246.2_Missense_Mutation_p.V157F|TP53_ENST00000413465.2_Missense_Mutation_p.V157F|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Missense_Mutation_p.V157F|TP53_ENST00000359597.4_Missense_Mutation_p.V157F|TP53_ENST00000445888.2_Missense_Mutation_p.V157F	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	157	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		V -> A (in sporadic cancers; somatic mutation).|V -> D (in sporadic cancers; somatic mutation).|V -> F (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974}.|V -> G (in sporadic cancers; somatic mutation).|V -> I (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:9419979}.|V -> L (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.V157F(161)|p.V157I(10)|p.0?(8)|p.V157L(6)|p.V64F(6)|p.V25F(6)|p.R156_I162delRVRAMAI(2)|p.T155fs*23(2)|p.V157del(2)|p.V157fs*9(2)|p.P153fs*22(2)|p.V157fs*22(2)|p.V157fs*24(2)|p.V157_C176del20(1)|p.R156_A161delRVRAMA(1)|p.P151_V173del23(1)|p.R156_V157del(1)|p.R156_V157insV(1)|p.R156_R158delRVR(1)|p.R156fs*12(1)|p.R156fs*18(1)|p.R156_A161del(1)|p.V157_M160delVRAM(1)|p.D148fs*23(1)|p.V157_R158delVR(1)|p.S149fs*72(1)|p.T155_A161delTRVRAMA(1)|p.G154fs*22(1)|p.R156fs*20(1)|p.V157_I162delVRAMAI(1)|p.V157fs*23(1)|p.V157fs*21(1)|p.V157fs*25(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	ATGGCGCGGACGCGGGTGCCG	0.617		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"Mis, N, F"	tumor protein p53			"L, E, M, O"		"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"	"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"		231	Substitution - Missense(189)|Deletion - Frameshift(15)|Deletion - In frame(14)|Whole gene deletion(8)|Insertion - Frameshift(3)|Insertion - In frame(1)|Complex - frameshift(1)	p.V157F(161)|p.V157I(10)|p.0?(8)|p.V157L(6)|p.V64F(6)|p.V25F(6)|p.R156_I162delRVRAMAI(2)|p.T155fs*23(2)|p.V157del(2)|p.V157fs*9(2)|p.P153fs*22(2)|p.V157fs*22(2)|p.V157fs*24(2)|p.V157_C176del20(1)|p.R156_A161delRVRAMA(1)|p.P151_V173del23(1)|p.R156_V157del(1)|p.R156_V157insV(1)|p.R156_R158delRVR(1)|p.R156fs*12(1)|p.R156fs*18(1)|p.R156_A161del(1)|p.V157_M160delVRAM(1)|p.D148fs*23(1)|p.V157_R158delVR(1)|p.S149fs*72(1)|p.T155_A161delTRVRAMA(1)|p.G154fs*22(1)|p.R156fs*20(1)|p.V157_I162delVRAMAI(1)|p.V157fs*23(1)|p.V157fs*21(1)|p.V157fs*25(1)	lung(69)|liver(30)|upper_aerodigestive_tract(26)|breast(19)|oesophagus(14)|ovary(13)|stomach(9)|large_intestine(7)|haematopoietic_and_lymphoid_tissue(7)|central_nervous_system(6)|bone(5)|vulva(4)|urinary_tract(4)|skin(3)|pancreas(3)|endometrium(2)|kidney(2)|biliary_tract(2)|soft_tissue(2)|prostate(1)|adrenal_gland(1)|salivary_gland(1)|thymus(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185						c.(469-471)Gtc>Ttc	Other conserved DNA damage response genes	tumor protein p53							50	52	51					17																	7578461		2202	4300	6502	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578461C>A	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"Li-Fraumeni syndrome"	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.469G>T	17.37:g.7578461C>A	ENSP00000269305:p.Val157Phe	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_ENST00000413465.2_Missense_Mutation_p.V157F|TP53_ENST00000455263.2_Missense_Mutation_p.V157F|TP53_ENST00000445888.2_Missense_Mutation_p.V157F|TP53_ENST00000269305.4_Missense_Mutation_p.V157F|TP53_ENST00000359597.4_Missense_Mutation_p.V157F	p.V157F	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	5	601	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	157		V -> A (in sporadic cancers; somatic mutation).|V -> D (in sporadic cancers; somatic mutation).|V -> F (in sporadic cancers; somatic mutation).|V -> G (in sporadic cancers; somatic mutation).|V -> I (in sporadic cancers; somatic mutation).|V -> L (in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.469G>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	12.19	1.865109	0.32977	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315;ENST00000508793	D;D;D;D;D;D;D;D;D	0.99822	-6.94;-6.94;-6.94;-6.94;-6.94;-6.94;-6.94;-6.94;-6.94	5.47	2.42	0.29668	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.216722	0.39210	N	0.001429	D	0.99718	0.9891	M	0.86420	2.815	0.33606	D	0.603	D;D;D;D;D;D;D	0.89917	1.0;0.998;0.999;0.999;0.999;1.0;1.0	D;D;D;D;D;D;D	0.87578	0.997;0.994;0.984;0.981;0.996;0.998;0.996	D	0.97998	1.0358	10	0.72032	D	0.01	-16.7152	5.3541	0.16051	0.0:0.6119:0.146:0.2421	.	118;157;157;64;157;157;157	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	F	157;157;157;157;157;157;146;64;25;64;25;157	ENSP00000410739:V157F;ENSP00000352610:V157F;ENSP00000269305:V157F;ENSP00000398846:V157F;ENSP00000391127:V157F;ENSP00000391478:V157F;ENSP00000425104:V25F;ENSP00000423862:V64F;ENSP00000424104:V157F	ENSP00000269305:V157F	V	-	1	0	TP53	7519186	0.137000	0.22531	0.013000	0.15412	0.150000	0.21749	0.548000	0.23314	0.386000	0.24997	-0.253000	0.11424	GTC		0.617	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		46	73	1	0	2.55665e-31	0.870114	3.08109e-31	46	73					A	7578461	C	A	7578461	3	1	109	1	0	0	0	0	1	0	0	0	16378	536	19	5	829	5	TP53	17	7578461	Missense_Mutation	SNP	C	TCGA-EJ-8472-01A-11D-2395-08	208	7578461	73616749	50	5965											
ARHGEF15	22899	broad.mit.edu	37	chr17	8215726	8215726	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagtccccccacccaagccGtctgggtcaccctgcacgcc	6	5	8	22	2	2	0	1	0	1	0	3	0	3	0	8	1	2	1	8	1	1	0			TCGA-EJ-8472-01A-11D-2395-08	TCGA-EJ-8472-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88471574-de05-44b5-a205-0a9a7a09c8a7	67774a5a-071c-4f47-93de-783d4e514308	g.chr17:8215726G>A	ENST00000361926.3	+	2	479	c.369G>A	c.(367-369)ccG>ccA	p.P123P	ARHGEF15_ENST00000421050.1_Silent_p.P123P	NM_173728.3	NP_776089.2	O94989	ARHGF_HUMAN	Rho guanine nucleotide exchange factor (GEF) 15	123	Pro-rich.				negative regulation of synapse maturation (GO:2000297)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of stress fiber assembly (GO:0051496)|regulation of catalytic activity (GO:0050790)|retina vasculature morphogenesis in camera-type eye (GO:0061299)	cytoplasm (GO:0005737)|dendrite (GO:0030425)	GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|endometrium(9)|large_intestine(5)|lung(11)|ovary(5)|prostate(3)|skin(2)|urinary_tract(1)	37						CACCCAAGCCGTCTGGGTCAC	0.682																																						ENST00000361926.3																			0				breast(1)|endometrium(9)|large_intestine(5)|lung(11)|ovary(5)|prostate(3)|skin(2)|urinary_tract(1)	37						c.(367-369)ccG>ccA		Rho guanine nucleotide exchange factor (GEF) 15							69	73	71					17																	8215726		2203	4300	6503	SO:0001819	synonymous_variant	22899				negative regulation of synapse maturation|regulation of Rho protein signal transduction	dendrite|intracellular	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	g.chr17:8215726G>A	AB020722	CCDS11139.1	17p13.1	2011-11-16			ENSG00000198844	ENSG00000198844		"Rho guanine nucleotide exchange factors"	15590	protein-coding gene	gene with protein product	"Rho guanine exchange factor (GEF) 15"	608504				10048485	Standard	NM_173728		Approved	KIAA0915, Vsm-RhoGEF, ARGEF15, FLJ13791, MGC44868	uc002glc.3	O94989	OTTHUMG00000108187	ENST00000361926.3:c.369G>A	17.37:g.8215726G>A						ARHGEF15_ENST00000421050.1_Silent_p.P123P	p.P123P	NM_173728.3	NP_776089.2	O94989	ARHGF_HUMAN			2	479	+			123			Pro-rich.		A8K6G1|Q8N449|Q9H8B4	Silent	SNP	ENST00000361926.3	37	c.369G>A	CCDS11139.1																																																																																				0.682	ARHGEF15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226993.2	NM_173728		21	271	0	0	0	0.592651	0	21	271					A	8215726	G	A	8215726	2	1	109	1	0	0	0	0	0	0	0	1	898	1132	40	1		1	ARHGEF15	17	8215726	Silent	SNP	G	TCGA-EJ-8472-01A-11D-2395-08	637265	8215726	72979484	51	5966											
FEM1A	55527	broad.mit.edu	37	chr19	4792977	4792977	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcaccgacccggatgagatgCgcatgcaggccctgttgatc	8	8	12	13	3	1	2	1	2	0	1	2	5	1	3	3	2	2	3	3	2	0	1			TCGA-EJ-8472-01A-11D-2395-08	TCGA-EJ-8472-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88471574-de05-44b5-a205-0a9a7a09c8a7	67774a5a-071c-4f47-93de-783d4e514308	g.chr19:4792977C>T	ENST00000269856.3	+	1	1250	c.1111C>T	c.(1111-1113)Cgc>Tgc	p.R371C	AC005523.2_ENST00000596170.1_RNA|AC005523.3_ENST00000598782.1_lincRNA|AC005523.2_ENST00000601192.1_RNA	NM_018708.2	NP_061178.1	Q9BSK4	FEM1A_HUMAN	fem-1 homolog a (C. elegans)	371					negative regulation of inflammatory response (GO:0050728)|regulation of ubiquitin-protein transferase activity (GO:0051438)	cytoplasm (GO:0005737)	EP4 subtype prostaglandin E2 receptor binding (GO:0031867)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	17		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0139)		GGATGAGATGCGCATGCAGGC	0.632																																						ENST00000269856.3																			0				breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	17						c.(1111-1113)Cgc>Tgc		fem-1 homolog a (C. elegans)							50	51	51					19																	4792977		2203	4300	6503	SO:0001583	missense	55527				regulation of ubiquitin-protein ligase activity	cytoplasm	binding|ubiquitin-protein ligase activity	g.chr19:4792977C>T	BC004988	CCDS12135.1	19p13.3	2013-01-10	2006-11-08		ENSG00000141965	ENSG00000141965		"Ankyrin repeat domain containing"	16934	protein-coding gene	gene with protein product		613538				11441184	Standard	NM_018708		Approved		uc002mbf.3	Q9BSK4		ENST00000269856.3:c.1111C>T	19.37:g.4792977C>T	ENSP00000269856:p.Arg371Cys					AC005523.2_ENST00000601192.1_RNA	p.R371C	NM_018708.2	NP_061178.1	Q9BSK4	FEM1A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0139)	1	1250	+		Hepatocellular(1079;0.137)	371					B2RDI3|Q711P8|Q9NPN7|Q9NPW8	Missense_Mutation	SNP	ENST00000269856.3	37	c.1111C>T	CCDS12135.1	.	.	.	.	.	.	.	.	.	.	C	15.48	2.845545	0.51164	.	.	ENSG00000141965	ENST00000269856	T	0.71341	-0.56	4.88	3.75	0.43078	.	0.000000	0.64402	U	0.000002	D	0.86289	0.5897	M	0.91972	3.26	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.89366	0.3671	10	0.72032	D	0.01	-19.7374	14.0361	0.64646	0.2515:0.7485:0.0:0.0	.	371	Q9BSK4	FEM1A_HUMAN	C	371	ENSP00000269856:R371C	ENSP00000269856:R371C	R	+	1	0	FEM1A	4743977	1.000000	0.71417	1.000000	0.80357	0.916000	0.54674	0.732000	0.26072	2.249000	0.74217	0.491000	0.48974	CGC		0.632	FEM1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459000.1			61	61	0	0	0	0.870114	0	61	61					T	4792977	C	T	4792977	3	4	109	1	0	0	0	0	1	0	0	0	5809	768	27	1	1113	1	FEM1A	19	4792977	Missense_Mutation	SNP	C	TCGA-EJ-8472-01A-11D-2395-08		4792977	54336006	52	5967											
CYP2F1	1572	broad.mit.edu	37	chr19	41626275	41626275	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcgccttctccagtggggatCgatggaaggtcctgagacag	8	9	14	10	2	1	1	0	1	1	1	5	5	2	3	3	4	0	0	3	4	1	1			TCGA-EJ-8472-01A-11D-2395-08	TCGA-EJ-8472-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88471574-de05-44b5-a205-0a9a7a09c8a7	67774a5a-071c-4f47-93de-783d4e514308	g.chr19:41626275C>T	ENST00000331105.2	+	4	430	c.358C>T	c.(358-360)Cga>Tga	p.R120*		NM_000774.3	NP_000765.2	P24903	CP2F1_HUMAN	cytochrome P450, family 2, subfamily F, polypeptide 1	120					naphthalene metabolic process (GO:0018931)|response to toxic substance (GO:0009636)|small molecule metabolic process (GO:0044281)|trichloroethylene metabolic process (GO:0018979)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen (GO:0016712)|oxygen binding (GO:0019825)	p.R120*(1)		central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(2)|lung(11)|ovary(2)|skin(2)	29						CAGTGGGGATCGATGGAAGGT	0.562																																						ENST00000331105.2																			1	Substitution - Nonsense(1)	p.R120*(1)	large_intestine(1)	central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(2)|lung(11)|ovary(2)|skin(2)	29						c.(358-360)Cga>Tga		cytochrome P450, family 2, subfamily F, polypeptide 1							97	92	94					19																	41626275		2203	4300	6503	SO:0001587	stop_gained	1572				naphthalene metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding	g.chr19:41626275C>T	J02906	CCDS12572.1	19q13.1-q13.2	2008-02-05	2003-01-14		ENSG00000197446	ENSG00000197446		"Cytochrome P450s"	2632	protein-coding gene	gene with protein product		124070	"cytochrome P450, subfamily IIF, polypeptide 1"	CYP2F			Standard	NM_000774		Approved		uc002opu.1	P24903	OTTHUMG00000167412	ENST00000331105.2:c.358C>T	19.37:g.41626275C>T	ENSP00000333534:p.Arg120*						p.R120*	NM_000774.3	NP_000765.2	P24903	CP2F1_HUMAN			4	430	+			120					A7KAU6|A7KAU7|A7KAU8|A7KAU9|A7KAV0|Q32MN5|Q8WWJ2	Nonsense_Mutation	SNP	ENST00000331105.2	37	c.358C>T	CCDS12572.1	.	.	.	.	.	.	.	.	.	.	C	13.18	2.158827	0.38119	.	.	ENSG00000197446	ENST00000331105	.	.	.	4.25	0.388	0.16264	.	0.214943	0.38058	U	0.001821	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	2.2291	0.03992	0.3239:0.2949:0.2842:0.0969	.	.	.	.	X	120	.	ENSP00000333534:R120X	R	+	1	2	CYP2F1	46318115	0.000000	0.05858	0.189000	0.23252	0.189000	0.23516	-0.842000	0.04354	0.413000	0.25759	-0.335000	0.08231	CGA		0.562	CYP2F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394527.2			63	111	0	0	0	0.870114	0	63	111					T	41626275	C	T	41626275	4	4	109	1	0	0	0	0	0	1	0	0	4171	876	31	2	368	2	CYP2F1	19	41626275	Nonsense_Mutation	SNP	C	TCGA-EJ-8472-01A-11D-2395-08	36833298	41626275	17502708	53	5968											
MEGF8	1954	broad.mit.edu	37	chr19	42865114	42865114	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgtaaccagtctggggcctgCacctggtgccatggggcctg	5	9	15	12	0	1	0	0	0	1	0	1	0	1	0	5	5	3	2	5	5	1	1			TCGA-EJ-8472-01A-11D-2395-08	TCGA-EJ-8472-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88471574-de05-44b5-a205-0a9a7a09c8a7	67774a5a-071c-4f47-93de-783d4e514308	g.chr19:42865114C>G	ENST00000251268.6	+	32	5676	c.5676C>G	c.(5674-5676)tgC>tgG	p.C1892W	MEGF8_ENST00000334370.4_Missense_Mutation_p.C1825W	NM_001271938.1	NP_001258867.1	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	1892	PSI 4.				BMP signaling pathway (GO:0030509)|cell migration involved in gastrulation (GO:0042074)|craniofacial suture morphogenesis (GO:0097094)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of heart left/right asymmetry (GO:0061371)|embryonic heart tube left/right pattern formation (GO:0060971)|embryonic heart tube morphogenesis (GO:0003143)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal system morphogenesis (GO:0048704)|epiboly involved in gastrulation with mouth forming second (GO:0055113)|fasciculation of sensory neuron axon (GO:0097155)|left/right pattern formation (GO:0060972)|limb morphogenesis (GO:0035108)|positive regulation of axon extension involved in axon guidance (GO:0048842)|regulation of gene expression (GO:0010468)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|receptor activity (GO:0004872)			breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50		Prostate(69;0.00682)				CTGGGGCCTGCACCTGGTGCC	0.672																																						ENST00000334370.4																			0				breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						c.(5473-5475)tgC>tgG		multiple EGF-like-domains 8							36	40	39					19																	42865114		2203	4299	6502	SO:0001583	missense	1954					integral to membrane	calcium ion binding|structural molecule activity	g.chr19:42865114C>G	AB011541	CCDS12604.2, CCDS62693.1	19q13.2	2011-11-24	2006-03-31	2006-03-31	ENSG00000105429	ENSG00000105429			3233	protein-coding gene	gene with protein product	"HBV pre s2 binding protein 1"	604267	"EGF-like-domain, multiple 4", "chromosome 19 open reading frame 49"	EGFL4, C19orf49		9693030	Standard	NM_001410		Approved	SBP1, FLJ22365	uc002otm.5	Q7Z7M0	OTTHUMG00000150342	ENST00000251268.6:c.5676C>G	19.37:g.42865114C>G	ENSP00000251268:p.Cys1892Trp					MEGF8_ENST00000251268.6_Missense_Mutation_p.C1892W	p.C1825W	NM_001410.2	NP_001401.2	Q7Z7M0	MEGF8_HUMAN			31	6110	+		Prostate(69;0.00682)	1892					A8KAY0|O75097	Missense_Mutation	SNP	ENST00000251268.6	37	c.5475C>G		.	.	.	.	.	.	.	.	.	.	C	18.34	3.603144	0.66445	.	.	ENSG00000105429	ENST00000334370;ENST00000251268	T;T	0.66099	-0.19;-0.19	5.54	3.4	0.38934	.	0.000000	0.85682	D	0.000000	T	0.57902	0.2085	N	0.08118	0	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.85130	0.997;0.994	T	0.61912	-0.6965	10	0.87932	D	0	-21.6471	8.0726	0.30697	0.0:0.7405:0.0:0.2595	.	1892;1825	Q7Z7M0;Q7Z7M0-2	MEGF8_HUMAN;.	W	1825;1892	ENSP00000334219:C1825W;ENSP00000251268:C1892W	ENSP00000251268:C1892W	C	+	3	2	MEGF8	47556954	0.417000	0.25432	0.998000	0.56505	0.981000	0.71138	0.477000	0.22196	0.681000	0.31386	0.655000	0.94253	TGC		0.672	MEGF8-002	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000463854.1	NM_001410		39	67	0	0	0	0.840704	0	39	67					G	42865114	C	G	42865114	3	3	109	1	0	0	0	0	1	0	0	0	9463	718	25	5	5597	5	MEGF8	19	42865114	Missense_Mutation	SNP	C	TCGA-EJ-8472-01A-11D-2395-08	1238839	42865114	16263869	54	5969											
PLCB4	5332	broad.mit.edu	37	chr20	9360791	9360791	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttgagatgtatgaacctgatGaagatttgaagaaaaaaggt	17	11	11	2	0	0	7	0	5	0	3	0	8	0	7	1	1	1	1	1	1	7	3			TCGA-EJ-8472-01A-11D-2395-08	TCGA-EJ-8472-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88471574-de05-44b5-a205-0a9a7a09c8a7	67774a5a-071c-4f47-93de-783d4e514308	g.chr20:9360791G>A	ENST00000378493.1	+	10	850	c.835G>A	c.(835-837)Gaa>Aaa	p.E279K	PLCB4_ENST00000378473.3_Missense_Mutation_p.E279K|PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000278655.4_Missense_Mutation_p.E279K|PLCB4_ENST00000334005.3_Missense_Mutation_p.E279K|PLCB4_ENST00000414679.2_Missense_Mutation_p.E279K|PLCB4_ENST00000378501.2_Missense_Mutation_p.E279K			Q15147	PLCB4_HUMAN	phospholipase C, beta 4	279					inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|dendrite (GO:0030425)|nucleus (GO:0005634)|postsynaptic density (GO:0014069)|smooth endoplasmic reticulum (GO:0005790)	calcium ion binding (GO:0005509)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						TGAACCTGATGAAGATTTGAA	0.299																																						ENST00000378501.2																			0				NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						c.(835-837)Gaa>Aaa		phospholipase C, beta 4							53	51	52					20																	9360791		2203	4296	6499	SO:0001583	missense	5332				intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity	g.chr20:9360791G>A		CCDS13104.1, CCDS13105.1, CCDS54447.1	20p12	2008-03-18			ENSG00000101333	ENSG00000101333	3.1.4.11		9059	protein-coding gene	gene with protein product		600810				8530101	Standard	NM_000933		Approved		uc021wam.1	Q15147	OTTHUMG00000031853	ENST00000378493.1:c.835G>A	20.37:g.9360791G>A	ENSP00000367754:p.Glu279Lys					PLCB4_ENST00000414679.2_Missense_Mutation_p.E279K|PLCB4_ENST00000278655.4_Missense_Mutation_p.E279K|PLCB4_ENST00000378493.1_Missense_Mutation_p.E279K|PLCB4_ENST00000378473.3_Missense_Mutation_p.E279K|PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000334005.3_Missense_Mutation_p.E279K	p.E279K	NM_000933.3	NP_000924.3	Q15147	PLCB4_HUMAN			10	850	+			279					B7ZLK6|E2QRH8|Q17R56|Q5JYS8|Q5JYS9|Q5JYT0|Q5JYT3|Q5JYT4|Q9BQW5|Q9BQW6|Q9BQW8|Q9UJQ2	Missense_Mutation	SNP	ENST00000378493.1	37	c.835G>A	CCDS13105.1	.	.	.	.	.	.	.	.	.	.	G	16.61	3.170542	0.57584	.	.	ENSG00000101333	ENST00000334005;ENST00000378473;ENST00000278655;ENST00000378493;ENST00000378501;ENST00000414679	T;T;T;T;T;T	0.48836	0.8;0.8;0.8;0.8;0.8;0.8	5.41	5.41	0.78517	Phospholipase C, phosphoinositol-specific, EF-hand-like (1);EF-hand-like domain (1);	0.154045	0.56097	D	0.000030	T	0.39358	0.1075	N	0.25144	0.715	0.80722	D	1	B;B;P;B	0.37061	0.4;0.01;0.58;0.001	B;B;B;B	0.40256	0.243;0.022;0.324;0.01	T	0.10359	-1.0633	10	0.15066	T	0.55	.	19.552	0.95324	0.0:0.0:1.0:0.0	.	279;126;279;279	E2QRH8;Q15147-2;Q15147;Q15147-4	.;.;PLCB4_HUMAN;.	K	279;279;279;279;279;115	ENSP00000334105:E279K;ENSP00000367734:E279K;ENSP00000278655:E279K;ENSP00000367754:E279K;ENSP00000367762:E279K;ENSP00000390616:E115K	ENSP00000278655:E279K	E	+	1	0	PLCB4	9308791	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.262000	0.95591	2.696000	0.92011	0.650000	0.86243	GAA		0.299	PLCB4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000077948.2			16	44	0	0	0	0.557998	0	16	44					A	9360791	G	A	9360791	3	1	109	1	0	0	0	0	1	0	0	0	12030	1291	45	3	873	3	PLCB4	20	9360791	Missense_Mutation	SNP	G	TCGA-EJ-8472-01A-11D-2395-08		9360791	53664729	55	5970											
CXorf22	170063	broad.mit.edu	37	chrX	36007559	36007559	+	Frame_Shift_Del	DEL	T	T	-																															cgcgttgaagctaaaatgtgTtgcacatgtaattattttcc																										TCGA-EJ-8472-01A-11D-2395-08	TCGA-EJ-8472-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88471574-de05-44b5-a205-0a9a7a09c8a7	67774a5a-071c-4f47-93de-783d4e514308	g.chrX:36007559delT	ENST00000297866.5	+	16	2903	c.2837delT	c.(2836-2838)gttfs	p.V946fs		NM_152632.3	NP_689845.2	Q6ZTR5	CX022_HUMAN	chromosome X open reading frame 22	946										breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3)	44						CTAAAATGTGTTGCACATGTA	0.363																																						ENST00000297866.5																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3)	44						c.(2836-2838)gtfs		chromosome X open reading frame 22							158	127	137					X																	36007559		2202	4300	6502	SO:0001589	frameshift_variant	170063							g.chrX:36007559delT	BC027936	CCDS14237.2	Xp21.1	2014-08-07			ENSG00000165164	ENSG00000165164			28546	protein-coding gene	gene with protein product						12477932	Standard	NM_152632		Approved	MGC34831	uc004ddj.3	Q6ZTR5	OTTHUMG00000021350	ENST00000297866.5:c.2837delT	X.37:g.36007559delT	ENSP00000297866:p.Val946fs						p.V946fs	NM_152632.3	NP_689845.2	Q6ZTR5	CX022_HUMAN			16	2903	+			946					Q5JRM8|Q8N6X8	Frame_Shift_Del	DEL	ENST00000297866.5	37	c.2837delT	CCDS14237.2																																																																																				0.363	CXorf22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056216.2	NM_152632		38	14						38	14	---	---	---	---	-	36007559	T	-	36007559	7	5	109	1	0	1	0	1	0	0	0	0	4102	1725	60	0	2899	0	CXorf22	23	36007559	Frame_Shift_Del	DEL	T	TCGA-EJ-8472-01A-11D-2395-08		36007559	119263001	56	5971											
HTR2C	3358	broad.mit.edu	37	chrX	113965913	113965913	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atggcagtaagcatggaaaaGaaactgcacaatgccaccaa	18	5	9	9	0	0	1	0	0	0	1	0	2	0	2	2	2	4	4	2	2	6	1			TCGA-EJ-8472-01A-11D-2395-08	TCGA-EJ-8472-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88471574-de05-44b5-a205-0a9a7a09c8a7	67774a5a-071c-4f47-93de-783d4e514308	g.chrX:113965913G>A	ENST00000276198.1	+	4	974	c.246G>A	c.(244-246)aaG>aaA	p.K82K	HTR2C_ENST00000371951.1_Silent_p.K82K|HTR2C_ENST00000371950.3_Silent_p.K82K	NM_000868.2	NP_000859.1	P28335	5HT2C_HUMAN	5-hydroxytryptamine (serotonin) receptor 2C, G protein-coupled	82					behavioral fear response (GO:0001662)|cellular calcium ion homeostasis (GO:0006874)|cGMP biosynthetic process (GO:0006182)|feeding behavior (GO:0007631)|locomotory behavior (GO:0007626)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|phospholipase C-activating serotonin receptor signaling pathway (GO:0007208)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of phosphatidylinositol biosynthetic process (GO:0010513)|regulation of appetite (GO:0032098)|regulation of corticotropin-releasing hormone secretion (GO:0043397)|regulation of neurological system process (GO:0031644)|release of sequestered calcium ion into cytosol (GO:0051209)|response to drug (GO:0042493)|serotonin receptor signaling pathway (GO:0007210)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding (GO:0071886)|drug binding (GO:0008144)|Gq/11-coupled serotonin receptor activity (GO:0001587)|serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)	p.K82N(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50					Agomelatine(DB06594)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Clomipramine(DB01242)|Clozapine(DB00363)|Cyproheptadine(DB00434)|Desipramine(DB01151)|Dexfenfluramine(DB01191)|Doxepin(DB01142)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Imipramine(DB00458)|Ketamine(DB01221)|Lisuride(DB00589)|Lorcaserin(DB04871)|Loxapine(DB00408)|Maprotiline(DB00934)|Methotrimeprazine(DB01403)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Pramipexole(DB00413)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Ropinirole(DB00268)|Sertindole(DB06144)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Yohimbine(DB01392)|Ziprasidone(DB00246)	GCATGGAAAAGAAACTGCACA	0.448																																						ENST00000276198.1																			1	Substitution - Missense(1)	p.K82N(1)	lung(1)	breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50						c.(244-246)aaG>aaA		5-hydroxytryptamine (serotonin) receptor 2C, G protein-coupled	Chlorprothixene(DB01239)|Clozapine(DB00363)|Dexfenfluramine(DB01191)|Fenfluramine(DB00574)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Sertindole(DB06144)|Thiethylperazine(DB00372)|Tramadol(DB00193)|Ziprasidone(DB00246)						227	172	190					X																	113965913		2203	4300	6503	SO:0001819	synonymous_variant	3358				cGMP biosynthetic process|ERK1 and ERK2 cascade|feeding behavior|phosphatidylinositol biosynthetic process|release of sequestered calcium ion into cytosol|response to drug|synaptic transmission	cytoplasm|integral to membrane|nucleus|plasma membrane	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding|drug binding|phosphatidylinositol phospholipase C activity|protein binding|serotonin binding|serotonin receptor activity	g.chrX:113965913G>A		CCDS14564.1, CCDS59174.1	Xq23	2013-12-19	2012-02-03		ENSG00000147246	ENSG00000147246		"5-HT (serotonin) receptors", "GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"	5295	protein-coding gene	gene with protein product		312861	"5-hydroxytryptamine (serotonin) receptor 2C"	HTR1C		7895773	Standard	NM_000868		Approved	5-HT2C, 5HTR2C	uc004epu.1	P28335	OTTHUMG00000022226	ENST00000276198.1:c.246G>A	X.37:g.113965913G>A						HTR2C_ENST00000371950.3_Silent_p.K82K|HTR2C_ENST00000371951.1_Silent_p.K82K	p.K82K	NM_000868.2	NP_000859.1	P28335	5HT2C_HUMAN			4	974	+			82					B1AMW4|Q5VUF8|Q9NP28	Silent	SNP	ENST00000276198.1	37	c.246G>A	CCDS14564.1																																																																																				0.448	HTR2C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057962.1	NM_000868		36	68	0	0	0	0.788014	0	36	68					A	113965913	G	A	113965913	2	1	109	1	0	0	0	0	0	0	0	1	7443	933	33	3		3	HTR2C	23	113965913	Silent	SNP	G	TCGA-EJ-8472-01A-11D-2395-08	77958354	113965913	41304647	57	5972											
SLITRK2	84631	broad.mit.edu	37	chrX	144906346	144906346	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caagacagaatcaataaaacCgttttatatggaactcccag	17	9	6	9	1	1	2	1	0	0	2	2	3	2	3	2	1	2	1	2	1	8	4			TCGA-EJ-8472-01A-11D-2395-08	TCGA-EJ-8472-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88471574-de05-44b5-a205-0a9a7a09c8a7	67774a5a-071c-4f47-93de-783d4e514308	g.chrX:144906346C>T	ENST00000370490.1	+	1	6658	c.2403C>T	c.(2401-2403)acC>acT	p.T801T	TMEM257_ENST00000408967.2_5'Flank|SLITRK2_ENST00000434188.2_Silent_p.T801T|SLITRK2_ENST00000447897.2_Silent_p.T801T|SLITRK2_ENST00000428560.2_Silent_p.T801T|SLITRK2_ENST00000413937.2_Silent_p.T801T			Q9H156	SLIK2_HUMAN	SLIT and NTRK-like family, member 2	801					axonogenesis (GO:0007409)	integral component of membrane (GO:0016021)				NS(1)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(17)|lung(40)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	86	Acute lymphoblastic leukemia(192;6.56e-05)					TCAATAAAACCGTTTTATATG	0.468																																						ENST00000370490.1																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(17)|lung(40)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	86						c.(2401-2403)acC>acT		SLIT and NTRK-like family, member 2							108	105	106					X																	144906346		2203	4300	6503	SO:0001819	synonymous_variant	84631					integral to membrane		g.chrX:144906346C>T	Y19205	CCDS14680.1	Xq27.3	2008-02-05	2004-03-11		ENSG00000185985	ENSG00000185985			13449	protein-coding gene	gene with protein product		300561	"slit-like 1 (Drosophila)"	SLITL1		11347906, 14557068	Standard	NM_032539		Approved	KIAA1854, CXorf2	uc011mwr.2	Q9H156	OTTHUMG00000022595	ENST00000370490.1:c.2403C>T	X.37:g.144906346C>T						SLITRK2_ENST00000428560.2_Silent_p.T801T|SLITRK2_ENST00000447897.2_Silent_p.T801T|SLITRK2_ENST00000434188.2_Silent_p.T801T|SLITRK2_ENST00000413937.2_Silent_p.T801T	p.T801T			Q9H156	SLIK2_HUMAN			1	6658	+	Acute lymphoblastic leukemia(192;6.56e-05)		801					A8K117|Q2KHN3|Q5JXB1|Q8NBC7|Q96JH3	Silent	SNP	ENST00000370490.1	37	c.2403C>T	CCDS14680.1																																																																																				0.468	SLITRK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058633.1	NM_032539		7	153	0	0	0	0.27861	0	7	153					T	144906346	C	T	144906346	2	4	109	1	0	0	0	0	0	0	0	1	14743	639	23	2		2	SLITRK2	23	144906346	Silent	SNP	C	TCGA-EJ-8472-01A-11D-2395-08	30940433	144906346	10364214	58	5973											
ARHGEF19	128272	broad.mit.edu	37	chr1	16534595	16534595	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cactcgggtggacccagacaActccaccctgggctcctctg	7	7	10	17	1	1	1	0	0	1	1	4	2	3	2	4	3	1	1	4	3	1	0			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	ce43974e-70a9-4f22-9686-f0462c597acb	g.chr1:16534595A>G	ENST00000270747.3	-	3	674	c.538T>C	c.(538-540)Ttg>Ctg	p.L180L	ARHGEF19_ENST00000478117.1_5'Flank	NM_153213.3	NP_694945.2	Q8IW93	ARHGJ_HUMAN	Rho guanine nucleotide exchange factor (GEF) 19	180					regulation of actin cytoskeleton organization (GO:0032956)|wound healing (GO:0042060)		GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			cervix(1)|endometrium(1)|lung(3)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	12		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|Colorectal(212;3.48e-07)|COAD - Colon adenocarcinoma(227;2.19e-05)|BRCA - Breast invasive adenocarcinoma(304;9.46e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.0117)|READ - Rectum adenocarcinoma(331;0.0649)		GACCCAGACAACTCCACCCTG	0.667																																						ENST00000270747.3																			0				cervix(1)|endometrium(1)|lung(3)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	12						c.(538-540)Ttg>Ctg		Rho guanine nucleotide exchange factor (GEF) 19							64	67	66					1																	16534595		2203	4300	6503	SO:0001819	synonymous_variant	128272				regulation of actin cytoskeleton organization	intracellular	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	g.chr1:16534595A>G	BC012982	CCDS170.1	1p36.13	2011-11-16			ENSG00000142632	ENSG00000142632		"Rho guanine nucleotide exchange factors"	26604	protein-coding gene	gene with protein product		612496				12477932	Standard	NM_153213		Approved	FLJ33962, WGEF	uc001ayc.1	Q8IW93	OTTHUMG00000002219	ENST00000270747.3:c.538T>C	1.37:g.16534595A>G						ARHGEF19_ENST00000421561.1_Silent_p.L180L	p.L180L	NM_153213.3	NP_694945.2	Q8IW93	ARHGJ_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|Colorectal(212;3.48e-07)|COAD - Colon adenocarcinoma(227;2.19e-05)|BRCA - Breast invasive adenocarcinoma(304;9.46e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.0117)|READ - Rectum adenocarcinoma(331;0.0649)	3	674	-		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)	180					A6NJ04|Q5TEV2|Q6PJQ4|Q8N244	Silent	SNP	ENST00000270747.3	37	c.538T>C	CCDS170.1																																																																																				0.667	ARHGEF19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006289.1	NM_153213		4	100	0	0	0	1	0	4	100					G	16534595	A	G	16534595	2	3	110	1	0	0	0	0	0	0	0	1	902	40	2	4		4	ARHGEF19	1	16534595	Silent	SNP	A	TCGA-EJ-8474-01A-11D-2395-08		16534595	232716026	1	5974											
PTPRU	10076	broad.mit.edu	37	chr1	29644362	29644362	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcatggacgtcctgccgcccGaccgctgcctgcccttcctc	3	8	10	20	4	0	0	0	0	0	0	3	2	2	1	7	1	3	2	7	1	0	1			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	ce43974e-70a9-4f22-9686-f0462c597acb	g.chr1:29644362G>T	ENST00000345512.3	+	26	3775	c.3646G>T	c.(3646-3648)Gac>Tac	p.D1216Y	PTPRU_ENST00000356870.3_Missense_Mutation_p.D1212Y|PTPRU_ENST00000428026.2_Missense_Mutation_p.D1203Y|PTPRU_ENST00000460170.2_Missense_Mutation_p.D1212Y|PTPRU_ENST00000373779.3_Missense_Mutation_p.D1206Y|PTPRU_ENST00000323874.8_Missense_Mutation_p.D1212Y	NM_005704.4	NP_005695.3	Q92729	PTPRU_HUMAN	protein tyrosine phosphatase, receptor type, U	1216	Tyrosine-protein phosphatase 2. {ECO:0000255|PROSITE-ProRule:PRU00160}.				canonical Wnt signaling pathway (GO:0060070)|cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|homotypic cell-cell adhesion (GO:0034109)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|organ regeneration (GO:0031100)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|protein localization to cell surface (GO:0034394)|response to glucocorticoid (GO:0051384)|single organismal cell-cell adhesion (GO:0016337)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	cell-cell junction (GO:0005911)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(4)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(26)|ovary(1)|prostate(3)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	79		Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871)		CCTGCCGCCCGACCGCTGCCT	0.637																																						ENST00000323874.8																			0				breast(4)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(26)|ovary(1)|prostate(3)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	79						c.(3634-3636)Gac>Tac		protein tyrosine phosphatase, receptor type, U							90	75	80					1																	29644362		2203	4300	6503	SO:0001583	missense	10076				canonical Wnt receptor signaling pathway|cell differentiation|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transmembrane receptor protein tyrosine phosphatase signaling pathway	cell-cell junction|integral to plasma membrane	beta-catenin binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr1:29644362G>T	U71075	CCDS334.1, CCDS335.1, CCDS44098.1, CCDS44098.2, CCDS53290.1	1p35.3	2013-02-11			ENSG00000060656	ENSG00000060656		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Fibronectin type III domain containing"	9683	protein-coding gene	gene with protein product	"pi R-PTP-Psi"	602454				8700514, 9434160	Standard	NM_133178		Approved	PTPRO, hPTP-J, PCP-2, FMI, PTP	uc001bru.3	Q92729	OTTHUMG00000003699	ENST00000345512.3:c.3646G>T	1.37:g.29644362G>T	ENSP00000334941:p.Asp1216Tyr					PTPRU_ENST00000373779.3_Missense_Mutation_p.D1206Y|PTPRU_ENST00000345512.3_Missense_Mutation_p.D1216Y|PTPRU_ENST00000356870.3_Missense_Mutation_p.D1212Y|PTPRU_ENST00000428026.2_Missense_Mutation_p.D1203Y|PTPRU_ENST00000460170.2_Missense_Mutation_p.D1212Y	p.D1212Y			Q92729	PTPRU_HUMAN		Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871)	26	3744	+		Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)	1216			Tyrosine-protein phosphatase 2.		A6H8L1|O00197|P78399|Q59HA4|Q5SYU4|Q5SYU5|Q92735|Q92850	Missense_Mutation	SNP	ENST00000345512.3	37	c.3634G>T	CCDS334.1	.	.	.	.	.	.	.	.	.	.	G	24.9	4.586243	0.86851	.	.	ENSG00000060656	ENST00000345512;ENST00000373779;ENST00000356870;ENST00000323874;ENST00000428026;ENST00000460170	D;D;D;D;D;D	0.89123	-2.47;-2.47;-2.47;-2.47;-2.47;-2.47	4.62	4.62	0.57501	Protein-tyrosine phosphatase, receptor/non-receptor type (3);	0.000000	0.85682	D	0.000000	D	0.96809	0.8958	H	0.98407	4.225	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.76071	0.978;0.978;0.978;0.987;0.987	D	0.98362	1.0549	9	.	.	.	.	17.0229	0.86438	0.0:0.0:1.0:0.0	.	1203;1212;1206;1212;1216	Q92729-3;Q92729-4;Q92729-2;E9PH42;Q92729	.;.;.;.;PTPRU_HUMAN	Y	1216;1206;1212;1212;1203;1212	ENSP00000334941:D1216Y;ENSP00000362884:D1206Y;ENSP00000349333:D1212Y;ENSP00000314987:D1212Y;ENSP00000392332:D1203Y;ENSP00000432906:D1212Y	.	D	+	1	0	PTPRU	29516949	1.000000	0.71417	0.958000	0.39756	0.940000	0.58332	9.648000	0.98483	2.546000	0.85860	0.655000	0.94253	GAC		0.637	PTPRU-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010447.1			17	90	1	0	1.99824e-07	1	2.15901e-07	17	90					T	29644362	G	T	29644362	3	4	110	1	0	0	0	0	1	0	0	0	12813	1058	37	5	3770	5	PTPRU	1	29644362	Missense_Mutation	SNP	G	TCGA-EJ-8474-01A-11D-2395-08	13109767	29644362	219606259	2	5975											
BEST4	266675	broad.mit.edu	37	chr1	45253307	45253307	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcttgtagatgcttcccctcCagcggagaagcaggccagag	9	7	13	12	1	0	3	0	0	0	3	2	4	2	3	4	2	3	4	4	2	2	3			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	ce43974e-70a9-4f22-9686-f0462c597acb	g.chr1:45253307C>T	ENST00000372207.3	-	1	70	c.71G>A	c.(70-72)tGg>tAg	p.W24*		NM_153274.2	NP_695006.1	Q8NFU0	BEST4_HUMAN	bestrophin 4	24						chloride channel complex (GO:0034707)|plasma membrane (GO:0005886)	chloride channel activity (GO:0005254)			large_intestine(1)|lung(4)|ovary(1)|skin(1)	7	Acute lymphoblastic leukemia(166;0.155)					GCTTCCCCTCCAGCGGAGAAG	0.572																																						ENST00000372207.3																			0				large_intestine(1)|lung(4)|ovary(1)|skin(1)	7						c.(70-72)tGg>tAg		bestrophin 4							95	105	102					1																	45253307		2203	4300	6503	SO:0001587	stop_gained	266675					chloride channel complex|plasma membrane	chloride channel activity	g.chr1:45253307C>T	AF440757	CCDS514.1	1p33-p32.3	2012-09-26	2006-10-18	2006-10-18	ENSG00000142959	ENSG00000142959		"Ion channels / Chloride channels : Calcium activated : Bestrophins"	17106	protein-coding gene	gene with protein product		607336	"vitelliform macular dystrophy 2-like 2"	VMD2L2		12032738, 16702355	Standard	NM_153274		Approved		uc001cmm.3	Q8NFU0	OTTHUMG00000008488	ENST00000372207.3:c.71G>A	1.37:g.45253307C>T	ENSP00000361281:p.Trp24*						p.W24*	NM_153274.2	NP_695006.1	Q8NFU0	BEST4_HUMAN			1	70	-	Acute lymphoblastic leukemia(166;0.155)		24					Q5JR93	Nonsense_Mutation	SNP	ENST00000372207.3	37	c.71G>A	CCDS514.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.193848	0.78902	.	.	ENSG00000142959	ENST00000372207	.	.	.	4.68	4.68	0.58851	.	0.072060	0.64402	D	0.000010	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-6.0509	15.1429	0.72623	0.0:1.0:0.0:0.0	.	.	.	.	X	24	.	ENSP00000361281:W24X	W	-	2	0	BEST4	45025894	1.000000	0.71417	0.980000	0.43619	0.635000	0.38103	7.635000	0.83286	2.427000	0.82271	0.655000	0.94253	TGG		0.572	BEST4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023425.1	NM_153274		26	215	0	0	0	1	0	26	215					T	45253307	C	T	45253307	4	4	110	1	0	0	0	0	0	1	0	0	1407	595	21	3	1386	3	BEST4	1	45253307	Nonsense_Mutation	SNP	C	TCGA-EJ-8474-01A-11D-2395-08	15608945	45253307	203997314	3	5976											
KANK4	163782	broad.mit.edu	37	chr1	62739197	62739197	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgctgggggagtctttctgtCgctgccccacagaaagcctc	6	10	12	13	1	2	1	0	0	2	1	4	2	2	2	3	2	3	2	3	2	1	1			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	ce43974e-70a9-4f22-9686-f0462c597acb	g.chr1:62739197C>T	ENST00000371153.4	-	3	1957	c.1579G>A	c.(1579-1581)Gac>Aac	p.D527N	KANK4_ENST00000354381.3_Intron|KANK4_ENST00000371150.1_5'Flank	NM_181712.4	NP_859063.3	Q5T7N3	KANK4_HUMAN	KN motif and ankyrin repeat domains 4	527						cytoplasm (GO:0005737)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(49)|ovary(3)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	81						GTCTTTCTGTCGCTGCCCCAC	0.602																																						ENST00000371153.4																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(49)|ovary(3)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	81						c.(1579-1581)Gac>Aac		KN motif and ankyrin repeat domains 4							54	55	55					1																	62739197		2203	4300	6503	SO:0001583	missense	163782							g.chr1:62739197C>T	AK096259	CCDS620.1	1p31.3	2013-10-11	2008-01-29	2008-01-29	ENSG00000132854	ENSG00000132854		"KN motif and ankyrin repeat domain containing", "Ankyrin repeat domain containing"	27263	protein-coding gene	gene with protein product		614612	"ankyrin repeat domain 38"	ANKRD38		17996375, 19554261	Standard	NM_181712		Approved	KIAA0172	uc001dah.4	Q5T7N3	OTTHUMG00000008971	ENST00000371153.4:c.1579G>A	1.37:g.62739197C>T	ENSP00000360195:p.Asp527Asn					KANK4_ENST00000354381.3_Intron	p.D527N	NM_181712.4	NP_859063.3	Q5T7N3	KANK4_HUMAN			3	1957	-			527					B1ALP7|Q6P9A0|Q86T71|Q86VE6|Q8NAX3	Missense_Mutation	SNP	ENST00000371153.4	37	c.1579G>A	CCDS620.1	.	.	.	.	.	.	.	.	.	.	C	10.54	1.378099	0.24944	.	.	ENSG00000132854	ENST00000371153	T	0.45276	0.9	4.68	1.44	0.22558	.	0.816249	0.09985	N	0.730482	T	0.32010	0.0815	L	0.46157	1.445	0.09310	N	1	B	0.12013	0.005	B	0.06405	0.002	T	0.27673	-1.0067	10	0.39692	T	0.17	-3.3583	4.0806	0.09924	0.0:0.562:0.1935:0.2445	.	527	Q5T7N3	KANK4_HUMAN	N	527	ENSP00000360195:D527N	ENSP00000360195:D527N	D	-	1	0	KANK4	62511785	0.000000	0.05858	0.000000	0.03702	0.026000	0.11368	-0.506000	0.06359	0.084000	0.17077	0.655000	0.94253	GAC		0.602	KANK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024877.1	NM_181712		28	74	0	0	0	1	0	28	74					T	62739197	C	T	62739197	3	4	110	1	0	0	0	0	1	0	0	0	7979	884	31	2	1440	2	KANK4	1	62739197	Missense_Mutation	SNP	C	TCGA-EJ-8474-01A-11D-2395-08	17485890	62739197	186511424	4	5977											
EVI5	7813	broad.mit.edu	37	chr1	92979385	92979385	+	Frame_Shift_Del	DEL	C	C	-																															cgtgcaaaggaaaaccaacaCcagtttcctgtaaggaatta																								rs146602523		TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	ce43974e-70a9-4f22-9686-f0462c597acb	g.chr1:92979385delC	ENST00000370331.1	-	18	2270	c.2261delG	c.(2260-2262)ggtfs	p.G754fs	EVI5_ENST00000540033.1_Frame_Shift_Del_p.G754fs|EVI5_ENST00000543509.1_Frame_Shift_Del_p.G765fs	NM_005665.4	NP_005656.4	O60447	EVI5_HUMAN	ecotropic viral integration site 5	754	Interaction with AURKB and INCENP.|Targeting to the centrosomes.				cell cycle (GO:0007049)|cell division (GO:0051301)|cell proliferation (GO:0008283)|multicellular organismal development (GO:0007275)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of Rab GTPase activity (GO:0032851)|retrograde transport, endosome to Golgi (GO:0042147)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	Rab GTPase activator activity (GO:0005097)|Rab GTPase binding (GO:0017137)			breast(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(1)|skin(1)	38		all_lung(203;0.00146)|Lung NSC(277;0.00565)|all_neural(321;0.185)|Melanoma(281;0.193)|Glioma(108;0.203)		Epithelial(280;8.09e-25)|OV - Ovarian serous cystadenocarcinoma(397;1.27e-22)|all cancers(265;1.74e-21)|GBM - Glioblastoma multiforme(16;0.00233)|BRCA - Breast invasive adenocarcinoma(282;0.211)		AAAACCAACACCAGTTTCCTG	0.433																																						ENST00000370331.1																			0				breast(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(1)|skin(1)	38						c.(2260-2262)gtfs		ecotropic viral integration site 5							74	77	76					1																	92979385		2203	4300	6503	SO:0001589	frameshift_variant	7813				cell cycle|cell division|cell proliferation|multicellular organismal development	microtubule organizing center|nucleus|spindle	protein binding|Rab GTPase activator activity	g.chr1:92979385delC	AF008915	CCDS30774.1	1p22	2013-07-09			ENSG00000067208	ENSG00000067208			3501	protein-coding gene	gene with protein product	"neuroblastoma stage 4S gene"	602942				9618176	Standard	XM_005271180		Approved	NB4S	uc001dox.3	O60447	OTTHUMG00000010895	ENST00000370331.1:c.2261delG	1.37:g.92979385delC	ENSP00000359356:p.Gly754fs					EVI5_ENST00000543509.1_Frame_Shift_Del_p.G765fs|EVI5_ENST00000540033.1_Frame_Shift_Del_p.G754fs	p.G754fs	NM_005665.4	NP_005656.4	O60447	EVI5_HUMAN		Epithelial(280;8.09e-25)|OV - Ovarian serous cystadenocarcinoma(397;1.27e-22)|all cancers(265;1.74e-21)|GBM - Glioblastoma multiforme(16;0.00233)|BRCA - Breast invasive adenocarcinoma(282;0.211)	18	2270	-		all_lung(203;0.00146)|Lung NSC(277;0.00565)|all_neural(321;0.185)|Melanoma(281;0.193)|Glioma(108;0.203)	754			Interaction with AURKB and INCENP.|Targeting to the centrosomes.		A6NKX8|B9A6J0|Q9H1Y9	Frame_Shift_Del	DEL	ENST00000370331.1	37	c.2261delG	CCDS30774.1																																																																																				0.433	EVI5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030047.1	NM_005665		36	79						36	79	---	---	---	---	-	92979385	C	-	92979385	7	5	110	1	0	1	0	1	0	0	0	0	5289	507	18	0	175	0	EVI5	1	92979385	Frame_Shift_Del	DEL	C	TCGA-EJ-8474-01A-11D-2395-08	30240188	92979385	156271236	5	5978											
FAM40A	85369	broad.mit.edu	37	chr1	110592992	110592992	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtcctggattaccctcactgCgtggtgcatgagctgccaga	7	10	12	12	1	1	2	1	1	0	1	2	3	2	3	3	2	5	2	3	2	1	1	rs199755654		TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	ce43974e-70a9-4f22-9686-f0462c597acb	g.chr1:110592992C>T	ENST00000369795.3	+	18	1939	c.1917C>T	c.(1915-1917)tgC>tgT	p.C639C	STRIP1_ENST00000369796.1_Silent_p.C544C	NM_033088.3	NP_149079.2	Q5VSL9	STRP1_HUMAN	striatin interacting protein 1	639					cortical actin cytoskeleton organization (GO:0030866)|regulation of cell morphogenesis (GO:0022604)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)											ACCCTCACTGCGTGGTGCATG	0.612													C|||	1	0.000199681	8e-04	0	5008	,	,		17782	0		0	False		,,,				2504	0					ENST00000369795.3																			0											c.(1915-1917)tgC>tgT		striatin interacting protein 1		C		0,4406		0,0,2203	120	96	104		1917	-3.5	1	1		104	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	FAM40A	NM_033088.2		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		639/838	110592992	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	85369							g.chr1:110592992C>T	AK027649	CCDS30798.1, CCDS59197.1	1p13.3	2012-11-05	2012-11-05	2012-11-05	ENSG00000143093	ENSG00000143093			25916	protein-coding gene	gene with protein product	"FAR11 factor arrest 11 homolog A (yeast)"		"family with sequence similarity 40, member A"	FAM40A		11214970, 12588993, 22782902, 22298706, 18782753	Standard	NM_033088		Approved	FLJ14743, KIAA1761, FAR11A	uc001dza.2	Q5VSL9	OTTHUMG00000170607	ENST00000369795.3:c.1917C>T	1.37:g.110592992C>T						STRIP1_ENST00000369796.1_Silent_p.C544C	p.C639C	NM_033088.2	NP_149079.2					18	1939	+								Q0V925|Q5VSL8|Q658K2|Q6ZV31|Q8N598|Q96SN2|Q9C0A2	Silent	SNP	ENST00000369795.3	37	c.1917C>T	CCDS30798.1																																																																																				0.612	STRIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032213.1	NM_033088		6	60	0	0	0	1	0	6	60					T	110592992	C	T	110592992	2	4	110	1	0	0	0	0	0	0	0	1	5560	776	27	1		1	FAM40A	1	110592992	Silent	SNP	C	TCGA-EJ-8474-01A-11D-2395-08	17613607	110592992	138657629	6	5979											
MAGI3	260425	broad.mit.edu	37	chr1	114201721	114201721	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gttattcctcataaaattggCcgagtcatagaaggaagtcc	13	11	9	8	1	2	1	2	0	0	1	4	3	4	2	3	2	0	1	3	2	6	5			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	ce43974e-70a9-4f22-9686-f0462c597acb	g.chr1:114201721C>T	ENST00000307546.9	+	16	2724	c.2649C>T	c.(2647-2649)ggC>ggT	p.G883G	MAGI3_ENST00000369615.1_Silent_p.G883G|MAGI3_ENST00000369611.4_Silent_p.G883G|MAGI3_ENST00000369617.4_Silent_p.G908G	NM_001142782.1	NP_001136254.1	Q5TCQ9	MAGI3_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 3	908	Interaction with LPAR2 and GRIN2B.|PDZ 5. {ECO:0000255|PROSITE- ProRule:PRU00143}.				apoptotic process (GO:0006915)|intracellular signal transduction (GO:0035556)|nucleotide phosphorylation (GO:0046939)|positive regulation of JUN kinase activity (GO:0043507)|viral process (GO:0016032)	membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	ATP binding (GO:0005524)|guanylate kinase activity (GO:0004385)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	41	Lung SC(450;0.184)	all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		ATAAAATTGGCCGAGTCATAG	0.378																																						ENST00000369615.1																			0				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	41						c.(2647-2649)ggC>ggT		membrane associated guanylate kinase, WW and PDZ domain containing 3							94	98	97					1																	114201721		2203	4300	6503	SO:0001819	synonymous_variant	260425				apoptosis|interspecies interaction between organisms|intracellular signal transduction	nucleus|tight junction	ATP binding|guanylate kinase activity|protein binding	g.chr1:114201721C>T	AF213259	CCDS860.1, CCDS44196.1	1p12-p11.2	2008-02-05			ENSG00000081026	ENSG00000081026			29647	protein-coding gene	gene with protein product		615943				10997877, 10748157	Standard	NM_152900		Approved	MAGI-3	uc001edk.3	Q5TCQ9	OTTHUMG00000011737	ENST00000307546.9:c.2649C>T	1.37:g.114201721C>T						MAGI3_ENST00000369617.4_Silent_p.G908G|MAGI3_ENST00000307546.9_Silent_p.G883G|MAGI3_ENST00000369611.4_Silent_p.G883G	p.G883G	NM_152900.2	NP_690864.2	Q5TCQ9	MAGI3_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	16	2711	+	Lung SC(450;0.184)	all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-05)	908			Interaction with LPAR2 and GRIN2B.|PDZ 5.		Q5TCQ8|Q5TCR0|Q9H2V6|Q9H5Y8|Q9HBC4|Q9HCD8	Silent	SNP	ENST00000307546.9	37	c.2649C>T	CCDS44196.1																																																																																				0.378	MAGI3-004	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000032429.1	NM_152900		4	111	0	0	0	1	0	4	111					T	114201721	C	T	114201721	2	4	110	1	0	0	0	0	0	0	0	1	9192	726	26	3		3	MAGI3	1	114201721	Silent	SNP	C	TCGA-EJ-8474-01A-11D-2395-08	3608729	114201721	135048900	7	5980											
SPRR1A	6698	broad.mit.edu	37	chr1	152957847	152957847	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgccaccccaaggtgcctgaGccctgccaccccaaagtgcc	8	5	9	19	0	0	1	0	1	0	0	0	1	0	1	9	1	5	0	9	1	2	0			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	ce43974e-70a9-4f22-9686-f0462c597acb	g.chr1:152957847G>T	ENST00000368762.1	+	1	141	c.141G>T	c.(139-141)gaG>gaT	p.E47D	SPRR1A_ENST00000307122.2_Missense_Mutation_p.E47D			P35321	SPR1A_HUMAN	small proline-rich protein 1A	47	6 X 8 AA approximate tandem repeats.				epidermis development (GO:0008544)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)	cornified envelope (GO:0001533)|cytoplasm (GO:0005737)	protein binding, bridging (GO:0030674)|structural molecule activity (GO:0005198)			breast(2)|endometrium(1)|large_intestine(1)|liver(2)|lung(1)	7	Lung NSC(65;1.46e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			AGGTGCCTGAGCCCTGCCACC	0.642																																						ENST00000307122.2																			0				breast(2)|endometrium(1)|large_intestine(1)|liver(2)|lung(1)	7						c.(139-141)gaG>gaT		small proline-rich protein 1A							120	120	120					1																	152957847		2203	4300	6503	SO:0001583	missense	6698				keratinization|peptide cross-linking	cornified envelope|cytoplasm	protein binding, bridging|structural molecule activity	g.chr1:152957847G>T	L05187	CCDS1032.1	1q21-q22	2008-02-05			ENSG00000169474	ENSG00000169474			11259	protein-coding gene	gene with protein product		182265				8325635	Standard	NM_005987		Approved		uc001faw.3	P35321	OTTHUMG00000014404	ENST00000368762.1:c.141G>T	1.37:g.152957847G>T	ENSP00000357751:p.Glu47Asp					SPRR1A_ENST00000368762.1_Missense_Mutation_p.E47D	p.E47D	NM_001199828.1|NM_005987.3	NP_001186757.1|NP_005978.2	P35321	SPR1A_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		2	205	+	Lung NSC(65;1.46e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		47			6 X 8 AA approximate tandem repeats.		B1AN47|D3DV31|Q2M303|Q9UDG4	Missense_Mutation	SNP	ENST00000368762.1	37	c.141G>T	CCDS1032.1	.	.	.	.	.	.	.	.	.	.	G	18.55	3.647613	0.67358	.	.	ENSG00000169474	ENST00000307122;ENST00000368762	T;T	0.13196	2.61;2.61	5.49	4.57	0.56435	.	0.000000	0.37136	N	0.002230	T	0.20700	0.0498	.	.	.	0.26270	N	0.978433	D	0.76494	0.999	D	0.80764	0.994	T	0.06445	-1.0826	9	0.59425	D	0.04	-12.4325	10.2524	0.43377	0.0917:0.0:0.9083:0.0	.	47	P35321	SPR1A_HUMAN	D	47	ENSP00000307340:E47D;ENSP00000357751:E47D	ENSP00000307340:E47D	E	+	3	2	SPRR1A	151224471	1.000000	0.71417	1.000000	0.80357	0.815000	0.46073	4.450000	0.60041	1.320000	0.45209	0.555000	0.69702	GAG		0.642	SPRR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040062.1	NM_005987		21	250	1	0	2.4624e-09	1	2.69146e-09	21	250					T	152957847	G	T	152957847	3	4	110	1	0	0	0	0	1	0	0	0	15094	962	34	5	143	5	SPRR1A	1	152957847	Missense_Mutation	SNP	G	TCGA-EJ-8474-01A-11D-2395-08	38756126	152957847	96292774	8	5981											
SHC1	6464	broad.mit.edu	37	chr1	154941890	154941890	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggtgttgaagtccagggcaCgcattgactggaggacctcc	8	8	15	10	1	0	2	0	2	0	0	2	4	2	4	3	4	0	3	3	4	1	2			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	ce43974e-70a9-4f22-9686-f0462c597acb	g.chr1:154941890C>T	ENST00000368445.5	-	2	744	c.530G>A	c.(529-531)cGt>cAt	p.R177H	SHC1_ENST00000606391.1_Intron|SHC1_ENST00000368453.4_Missense_Mutation_p.R67H|SHC1_ENST00000368449.4_Intron|SHC1_ENST00000368450.1_Missense_Mutation_p.R67H|SHC1_ENST00000448116.2_Missense_Mutation_p.R177H	NM_183001.4	NP_892113.4	P29353	SHC1_HUMAN	SHC (Src homology 2 domain containing) transforming protein 1	177	PID. {ECO:0000255|PROSITE- ProRule:PRU00148}.				actin cytoskeleton reorganization (GO:0031532)|activation of MAPK activity (GO:0000187)|activation of signaling protein activity involved in unfolded protein response (GO:0006987)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet activation (GO:0030168)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|Ras protein signal transduction (GO:0007265)|regulation of epidermal growth factor-activated receptor activity (GO:0007176)|regulation of growth (GO:0040008)|single organismal cell-cell adhesion (GO:0016337)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|Shc-EGFR complex (GO:0070435)	ephrin receptor binding (GO:0046875)|epidermal growth factor receptor binding (GO:0005154)|insulin receptor binding (GO:0005158)|insulin-like growth factor receptor binding (GO:0005159)|neurotrophin TRKA receptor binding (GO:0005168)|phospholipid binding (GO:0005543)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)			breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(8)|prostate(1)|skin(1)	20	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			GTCCAGGGCACGCATTGACTG	0.602																																					NSCLC(4;32 234 1864 2492 3259 13747 17376)	ENST00000448116.2																			0				breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(8)|prostate(1)|skin(1)	20						c.(529-531)cGt>cAt		SHC (Src homology 2 domain containing) transforming protein 1							77	61	66					1																	154941890		2203	4300	6503	SO:0001583	missense	6464				activation of MAPK activity|blood coagulation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|positive regulation of DNA replication|Ras protein signal transduction|regulation of epidermal growth factor receptor activity|regulation of growth	cytosol|mitochondrial matrix|Shc-EGFR complex	epidermal growth factor receptor binding|insulin receptor binding|insulin-like growth factor receptor binding|phospholipid binding|protein binding|transmembrane receptor protein tyrosine kinase adaptor activity	g.chr1:154941890C>T	U73377	CCDS1076.1, CCDS30881.1, CCDS44233.1, CCDS44234.1	1q21	2013-02-14	2002-01-14		ENSG00000160691	ENSG00000160691		"SH2 domain containing"	10840	protein-coding gene	gene with protein product		600560	"SHC (Src homology 2 domain-containing) transforming protein 1"	SHC		1623525	Standard	NM_003029		Approved	p66	uc001ffw.3	P29353	OTTHUMG00000037295	ENST00000368445.5:c.530G>A	1.37:g.154941890C>T	ENSP00000357430:p.Arg177His					SHC1_ENST00000606391.1_Intron|SHC1_ENST00000368450.1_Missense_Mutation_p.R67H|SHC1_ENST00000368445.5_Missense_Mutation_p.R177H|SHC1_ENST00000368449.4_Intron|SHC1_ENST00000368453.4_Missense_Mutation_p.R67H	p.R177H	NM_001130040.1	NP_001123512.1	P29353	SHC1_HUMAN	BRCA - Breast invasive adenocarcinoma(34;0.00034)		2	750	-	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245)		177			PID.		B5BU19|D3DV78|O15290|Q5T180|Q5T183|Q5T184|Q5T185|Q5T186|Q8N4K5|Q96CL1	Missense_Mutation	SNP	ENST00000368445.5	37	c.530G>A	CCDS30881.1	.	.	.	.	.	.	.	.	.	.	C	33	5.208166	0.95033	.	.	ENSG00000160691	ENST00000368445;ENST00000448116;ENST00000368453;ENST00000368450;ENST00000368443;ENST00000412170;ENST00000366442	T;T;T;T;T;T	0.22539	1.95;1.95;1.95;1.95;1.95;1.95	4.92	4.92	0.64577	Phosphotyrosine interaction (PID/PI) (1);Phosphotyrosine interaction domain (3);Pleckstrin homology-type (1);	0.000000	0.85682	D	0.000000	T	0.46171	0.1379	M	0.88704	2.975	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.79108	0.989;0.992	T	0.55153	-0.8185	10	0.87932	D	0	.	15.6675	0.77242	0.0:1.0:0.0:0.0	.	177;177	P29353-6;P29353	.;SHC1_HUMAN	H	177;177;67;67;113;67;67	ENSP00000357430:R177H;ENSP00000401303:R177H;ENSP00000357438:R67H;ENSP00000357435:R67H;ENSP00000398441:R67H;ENSP00000396162:R67H	ENSP00000396162:R67H	R	-	2	0	SHC1	153208514	1.000000	0.71417	0.995000	0.50966	0.990000	0.78478	7.256000	0.78350	2.580000	0.87095	0.655000	0.94253	CGT		0.602	SHC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000090781.2	NM_183001		6	35	0	0	0	1	0	6	35					T	154941890	C	T	154941890	3	4	110	1	0	0	0	0	1	0	0	0	14270	536	19	1	1268	1	SHC1	1	154941890	Missense_Mutation	SNP	C	TCGA-EJ-8474-01A-11D-2395-08	1984043	154941890	94308731	9	5982											
FCRL3	115352	broad.mit.edu	37	chr1	157666077	157666077	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccttcaatcagctgccctccGgtgggccggatctctagatt	6	11	10	14	2	3	1	2	0	1	1	5	2	4	2	4	3	2	1	4	3	2	3			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	ce43974e-70a9-4f22-9686-f0462c597acb	g.chr1:157666077G>A	ENST00000368184.3	-	7	1176	c.885C>T	c.(883-885)acC>acT	p.T295T	RP11-367J7.3_ENST00000453692.1_RNA|FCRL3_ENST00000473231.1_5'UTR|FCRL3_ENST00000368186.5_Silent_p.T295T	NM_052939.3	NP_443171.2	Q96P31	FCRL3_HUMAN	Fc receptor-like 3	295	Ig-like C2-type 4.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.T295T(1)		autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(1)|large_intestine(13)|lung(31)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)	69	all_hematologic(112;0.0378)					GCTGCCCTCCGGTGGGCCGGA	0.517																																						ENST00000368184.3																			1	Substitution - coding silent(1)	p.T295T(1)	large_intestine(1)	autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(1)|large_intestine(13)|lung(31)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)	69						c.(883-885)acC>acT		Fc receptor-like 3							95	91	93					1																	157666077		2203	4300	6503	SO:0001819	synonymous_variant	115352					integral to membrane|plasma membrane	receptor activity	g.chr1:157666077G>A	AF459027	CCDS1167.1	1q21-q22	2013-01-11			ENSG00000160856	ENSG00000160856		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	18506	protein-coding gene	gene with protein product		606510				11493702, 12014205	Standard	XR_241065		Approved	FCRH3, IRTA3, IFGP3, SPAP2a, SPAP2, SPAP2b, SPAP2c, SPAP2d, SPAP2e, CD307c	uc001frb.3	Q96P31	OTTHUMG00000019400	ENST00000368184.3:c.885C>T	1.37:g.157666077G>A						RP11-367J7.3_ENST00000453692.1_RNA|FCRL3_ENST00000368186.5_Silent_p.T295T|FCRL3_ENST00000473231.1_5'UTR	p.T295T	NM_052939.3	NP_443171.2	Q96P31	FCRL3_HUMAN			7	1176	-	all_hematologic(112;0.0378)		295			Ig-like C2-type 4.		A0N0M4|A8MTH7|D3DVD2|Q5VXZ8|Q8N6S2|Q96LA4|Q96P27|Q96P28|Q96P29|Q96P30	Silent	SNP	ENST00000368184.3	37	c.885C>T	CCDS1167.1																																																																																				0.517	FCRL3-006	NOVEL	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051419.2	NM_052939		16	157	0	0	0	1	0	16	157					A	157666077	G	A	157666077	2	1	110	1	0	0	0	0	0	0	0	1	5796	1103	39	2		2	FCRL3	1	157666077	Silent	SNP	G	TCGA-EJ-8474-01A-11D-2395-08	2724187	157666077	91584544	10	5983											
OR6N2	81442	broad.mit.edu	37	chr1	158746588	158746588	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	attgaccattggtgttagtaCggagtaaactatagcaagtg	13	12	11	5	1	0	1	0	1	0	0	0	2	0	2	1	2	3	4	1	2	7	7	rs186539843		TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	ce43974e-70a9-4f22-9686-f0462c597acb	g.chr1:158746588C>T	ENST00000339258.1	-	1	837	c.838G>A	c.(838-840)Gta>Ata	p.V280I		NM_001005278.1	NP_001005278.1	Q8NGY6	OR6N2_HUMAN	olfactory receptor, family 6, subfamily N, member 2	280						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V280I(1)		endometrium(3)|large_intestine(6)|lung(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_hematologic(112;0.0378)					GGTGTTAGTACGGAGTAAACT	0.423																																						ENST00000339258.1																			1	Substitution - Missense(1)	p.V280I(1)	endometrium(1)	endometrium(3)|large_intestine(6)|lung(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						c.(838-840)Gta>Ata		olfactory receptor, family 6, subfamily N, member 2		T	ILE/VAL	1,4405	2.1+/-5.4	0,1,2202	156	146	149		838	3.8	1	1		149	3,8597	3.0+/-9.4	0,3,4297	yes	missense	OR6N2	NM_001005278.1	29	0,4,6499	TT,TC,CC		0.0349,0.0227,0.0308	probably-damaging	280/318	158746588	4,13002	2203	4300	6503	SO:0001583	missense	81442				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158746588C>T	BK004200	CCDS30906.1	1q23.1	2012-08-09			ENSG00000188340	ENSG00000188340		"GPCR / Class A : Olfactory receptors"	15035	protein-coding gene	gene with protein product							Standard	NM_001005278		Approved		uc010pir.2	Q8NGY6	OTTHUMG00000022775	ENST00000339258.1:c.838G>A	1.37:g.158746588C>T	ENSP00000344101:p.Val280Ile						p.V280I	NM_001005278.1	NP_001005278.1	Q8NGY6	OR6N2_HUMAN			1	837	-	all_hematologic(112;0.0378)		280					Q6IFR2	Missense_Mutation	SNP	ENST00000339258.1	37	c.838G>A	CCDS30906.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	c	13.02	2.111613	0.37242	2.27E-4	3.49E-4	ENSG00000188340	ENST00000339258	T	0.00289	8.28	4.74	3.84	0.44239	GPCR, rhodopsin-like superfamily (1);	0.263351	0.20021	N	0.100915	T	0.00039	0.0001	L	0.31578	0.945	0.21675	N	0.999597	P	0.42203	0.773	B	0.33620	0.167	T	0.00305	-1.1831	10	0.30078	T	0.28	-6.0462	12.224	0.54449	0.0:0.9157:0.0:0.0843	.	280	Q8NGY6	OR6N2_HUMAN	I	280	ENSP00000344101:V280I	ENSP00000344101:V280I	V	-	1	0	OR6N2	157013212	0.000000	0.05858	0.997000	0.53966	0.716000	0.41182	-0.680000	0.05197	1.217000	0.43442	-0.127000	0.14921	GTA		0.423	OR6N2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059068.1			8	117	0	0	0	1	0	8	117					T	158746588	C	T	158746588	3	4	110	1	0	0	0	0	1	0	0	0	11207	536	19	1	118	1	OR6N2	1	158746588	Missense_Mutation	SNP	C	TCGA-EJ-8474-01A-11D-2395-08	1080511	158746588	90504033	11	5984											
SLAMF6	114836	broad.mit.edu	37	chr1	160466146	160466146	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcccccagaatcccgttcacCatcaatggggttaagctgct	9	10	8	14	1	2	1	2	0	0	1	4	1	4	1	4	2	2	4	4	2	3	2			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	ce43974e-70a9-4f22-9686-f0462c597acb	g.chr1:160466146C>T	ENST00000368057.3	-	2	147	c.87G>A	c.(85-87)atG>atA	p.M29I	SLAMF6_ENST00000368059.3_Missense_Mutation_p.M29I|SLAMF6_ENST00000368055.1_Intron			Q96DU3	SLAF6_HUMAN	SLAM family member 6	29						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|skin(4)	22	all_cancers(52;1.05e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0923)			TCCCGTTCACCATCAATGGGG	0.458																																						ENST00000368059.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|skin(4)	22						c.(85-87)atG>atA		SLAM family member 6							162	162	162					1																	160466146		2203	4300	6503	SO:0001583	missense	114836					integral to membrane|plasma membrane	receptor activity	g.chr1:160466146C>T	AL832854	CCDS1205.1, CCDS53393.1, CCDS53394.1	1q23.1	2013-01-29			ENSG00000162739	ENSG00000162739		"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	21392	protein-coding gene	gene with protein product		606446				11489943	Standard	NM_052931		Approved	KALI, NTBA, KALIb, Ly108, SF2000, NTB-A, CD352	uc001fwe.2	Q96DU3	OTTHUMG00000022729	ENST00000368057.3:c.87G>A	1.37:g.160466146C>T	ENSP00000357036:p.Met29Ile					SLAMF6_ENST00000368055.1_Intron|SLAMF6_ENST00000368057.3_Missense_Mutation_p.M29I	p.M29I	NM_001184714.1|NM_001184715.1|NM_001184716.1|NM_052931.4	NP_001171643.1|NP_001171644.1|NP_001171645.1|NP_443163.1	Q96DU3	SLAF6_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.0923)		2	156	-	all_cancers(52;1.05e-18)|all_hematologic(112;0.093)		29					A6NMW2|B2R8X8|Q14CF0|Q5TAS4|Q5TAS6|Q5TAT3|Q96DV0	Missense_Mutation	SNP	ENST00000368057.3	37	c.87G>A	CCDS53394.1	.	.	.	.	.	.	.	.	.	.	C	3.537	-0.094577	0.07053	.	.	ENSG00000162739	ENST00000368059;ENST00000368057	T;T	0.21361	2.01;2.01	4.95	-4.54	0.03452	Immunoglobulin subtype (1);Immunoglobulin V-set (1);	1.387830	0.04729	N	0.420899	T	0.02342	0.0072	L	0.28192	0.835	0.09310	N	1	B;B	0.09022	0.002;0.002	B;B	0.06405	0.002;0.002	T	0.33214	-0.9877	10	0.08837	T	0.75	0.3789	0.8089	0.01089	0.2617:0.2144:0.1205:0.4034	.	29;29	Q96DU3;B2R8X8	SLAF6_HUMAN;.	I	29	ENSP00000357038:M29I;ENSP00000357036:M29I	ENSP00000357036:M29I	M	-	3	0	SLAMF6	158732770	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.717000	0.04986	-1.283000	0.02393	-0.768000	0.03414	ATG		0.458	SLAMF6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059010.1	NM_052931		8	283	0	0	0	1	0	8	283					T	160466146	C	T	160466146	3	4	110	1	0	0	0	0	1	0	0	0	14368	594	21	3	939	3	SLAMF6	1	160466146	Missense_Mutation	SNP	C	TCGA-EJ-8474-01A-11D-2395-08	1719558	160466146	88784475	12	5985											
OSR1	130497	broad.mit.edu	37	chr2	19553372	19553372	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actttggagaaagaagagcgCggcaagtgcatggccgggta	12	6	16	7	3	0	3	0	0	0	3	0	4	0	3	1	4	2	3	1	4	4	2			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	ce43974e-70a9-4f22-9686-f0462c597acb	g.chr2:19553372C>T	ENST00000272223.2	-	2	539	c.195G>A	c.(193-195)ccG>ccA	p.P65P	OSR1_ENST00000536433.1_Silent_p.P65P	NM_145260.2	NP_660303.1	Q8TAX0	OSR1_HUMAN	odd-skipped related transciption factor 1	65					cell differentiation (GO:0030154)|cell proliferation involved in kidney development (GO:0072111)|cellular response to retinoic acid (GO:0071300)|chondrocyte differentiation (GO:0002062)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic skeletal joint development (GO:0072498)|embryonic skeletal joint morphogenesis (GO:0060272)|embryonic skeletal limb joint morphogenesis (GO:0036023)|gonad development (GO:0008406)|heart development (GO:0007507)|intermediate mesoderm development (GO:0048389)|mesangial cell development (GO:0072143)|mesonephric duct morphogenesis (GO:0072180)|mesonephros development (GO:0001823)|metanephric cap mesenchymal cell proliferation involved in metanephros development (GO:0090094)|metanephric epithelium development (GO:0072207)|metanephric glomerulus vasculature development (GO:0072239)|metanephric interstitial fibroblast development (GO:0072259)|metanephric mesenchymal cell differentiation (GO:0072162)|metanephric mesenchyme development (GO:0072075)|metanephric mesenchyme morphogenesis (GO:0072133)|metanephric nephron tubule development (GO:0072234)|metanephric smooth muscle tissue development (GO:0072208)|middle ear morphogenesis (GO:0042474)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epithelial cell differentiation (GO:0030857)|negative regulation of nephron tubule epithelial cell differentiation (GO:0072183)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|odontogenesis (GO:0042476)|palate development (GO:0060021)|pattern specification involved in metanephros development (GO:0072268)|positive regulation of bone mineralization (GO:0030501)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of gastrulation (GO:2000543)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|posterior mesonephric tubule development (GO:0072166)|pronephros development (GO:0048793)|renal vesicle progenitor cell differentiation (GO:0072184)|specification of anterior mesonephric tubule identity (GO:0072168)|specification of posterior mesonephric tubule identity (GO:0072169)|stem cell differentiation (GO:0048863)|transcription, DNA-templated (GO:0006351)|ureter urothelium development (GO:0072190)|ureteric bud development (GO:0001657)|urogenital system development (GO:0001655)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			breast(1)|large_intestine(2)|lung(4)|ovary(1)	8	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.197)	Acute lymphoblastic leukemia(84;0.221)				AAGAAGAGCGCGGCAAGTGCA	0.612																																						ENST00000536433.1																			0				breast(1)|large_intestine(2)|lung(4)|ovary(1)	8						c.(193-195)ccG>ccA		odd-skipped related transciption factor 1							38	41	40					2																	19553372		2203	4300	6503	SO:0001819	synonymous_variant	130497				chondrocyte differentiation|embryonic digit morphogenesis|embryonic forelimb morphogenesis|embryonic hindlimb morphogenesis|embryonic leg joint morphogenesis|embryonic skeletal joint morphogenesis|heart development|mesangial cell development|mesonephric duct morphogenesis|metanephric cap mesenchymal cell proliferation involved in metanephros development|metanephric glomerulus vasculature development|metanephric interstitial cell development|metanephric mesenchymal cell differentiation|metanephric nephron tubule development|metanephric smooth muscle tissue development|middle ear morphogenesis|negative regulation of apoptosis|negative regulation of nephron tubule epithelial cell differentiation|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|pattern specification involved in metanephros development|positive regulation of bone mineralization|positive regulation of epithelial cell proliferation|positive regulation of gastrulation|positive regulation of transcription from RNA polymerase II promoter|pronephros development|renal vesicle progenitor cell differentiation|specification of anterior mesonephric tubule identity|specification of posterior mesonephric tubule identity|stem cell differentiation|transcription, DNA-dependent|ureter urothelium development|ureteric bud development	nucleolus	nucleic acid binding|zinc ion binding	g.chr2:19553372C>T	BC025712	CCDS1694.1	2p24.1	2013-10-17	2013-10-17	2004-11-26	ENSG00000143867	ENSG00000143867		"Zinc fingers, C2H2-type"	8111	protein-coding gene	gene with protein product		608891	"odd-skipped (Drosophila) homolog", "odd-skipped related 1 (Drosophila)"	ODD		2120051, 12119563	Standard	XM_006711942		Approved		uc002rdc.3	Q8TAX0	OTTHUMG00000088793	ENST00000272223.2:c.195G>A	2.37:g.19553372C>T						OSR1_ENST00000272223.2_Silent_p.P65P	p.P65P			Q8TAX0	OSR1_HUMAN			1	3305	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.197)	Acute lymphoblastic leukemia(84;0.221)	65					B3KV97|D6W521	Silent	SNP	ENST00000272223.2	37	c.195G>A	CCDS1694.1																																																																																				0.612	OSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000201432.2	NM_145260		5	57	0	0	0	1	0	5	57					T	19553372	C	T	19553372	2	4	110	1	0	0	0	0	0	0	0	1	11293	755	27	1		1	OSR1	2	19553372	Silent	SNP	C	TCGA-EJ-8474-01A-11D-2395-08		19553372	223646001	13	5986											
DPYSL5	56896	broad.mit.edu	37	chr2	27169828	27169828	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gagcttcagctcggatcctcGctcctcccggaggcaggtcg	5	8	13	15	4	1	0	1	0	0	0	7	3	4	2	3	4	2	4	3	4	0	1			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	ce43974e-70a9-4f22-9686-f0462c597acb	g.chr2:27169828G>A	ENST00000288699.6	+	13	1818	c.1660G>A	c.(1660-1662)Gct>Act	p.A554T	DPYSL5_ENST00000401478.1_Missense_Mutation_p.A554T	NM_001253724.1|NM_020134.3	NP_001240653.1|NP_064519.2	Q9BPU6	DPYL5_HUMAN	dihydropyrimidinase-like 5	554					axon guidance (GO:0007411)|nervous system development (GO:0007399)|pyrimidine nucleobase catabolic process (GO:0006208)|signal transduction (GO:0007165)	cytosol (GO:0005829)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides (GO:0016812)			breast(1)|endometrium(5)|large_intestine(2)|lung(13)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	27	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TCGGATCCTCGCTCCTCCCGG	0.617																																						ENST00000288699.6																			0				breast(1)|endometrium(5)|large_intestine(2)|lung(13)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	27						c.(1660-1662)Gct>Act		dihydropyrimidinase-like 5							89	71	77					2																	27169828		2203	4300	6503	SO:0001583	missense	56896				axon guidance|pyrimidine base catabolic process|signal transduction	cytosol	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides	g.chr2:27169828G>A	AF264015	CCDS1730.1	2p23.3	2008-02-05			ENSG00000157851	ENSG00000157851			20637	protein-coding gene	gene with protein product		608383				10851247, 11034345	Standard	NM_020134		Approved	CRMP5, Ulip6, CRMP-5, CRAM	uc002rhu.4	Q9BPU6	OTTHUMG00000097071	ENST00000288699.6:c.1660G>A	2.37:g.27169828G>A	ENSP00000288699:p.Ala554Thr					DPYSL5_ENST00000401478.1_Missense_Mutation_p.A554T	p.A554T	NM_001253724.1|NM_020134.3	NP_001240653.1|NP_064519.2	Q9BPU6	DPYL5_HUMAN			13	1818	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		554					Q8TCL6|Q9NQC4|Q9NRY9	Missense_Mutation	SNP	ENST00000288699.6	37	c.1660G>A	CCDS1730.1	.	.	.	.	.	.	.	.	.	.	g	35	5.448477	0.96205	.	.	ENSG00000157851	ENST00000288699;ENST00000401478	D;D	0.86164	-2.08;-2.08	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	D	0.94029	0.8087	M	0.87381	2.88	0.58432	D	0.999999	D	0.89917	1.0	D	0.66084	0.941	D	0.93866	0.7158	10	0.49607	T	0.09	-21.5054	18.5156	0.90935	0.0:0.0:1.0:0.0	.	554	Q9BPU6	DPYL5_HUMAN	T	554	ENSP00000288699:A554T;ENSP00000385549:A554T	ENSP00000288699:A554T	A	+	1	0	DPYSL5	27023332	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.607000	0.98328	2.680000	0.91292	0.542000	0.68232	GCT		0.617	DPYSL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214187.2	NM_020134		10	37	0	0	0	1	0	10	37					A	27169828	G	A	27169828	3	1	110	1	0	0	0	0	1	0	0	0	4750	1087	38	1	1706	1	DPYSL5	2	27169828	Missense_Mutation	SNP	G	TCGA-EJ-8474-01A-11D-2395-08	7616456	27169828	216029545	14	5987											
KCNH7	90134	broad.mit.edu	37	chr2	163291905	163291905	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gtcctaaggaatccaaccatCcgattttgtcagtcaggtaa	12	11	8	10	1	2	0	2	0	0	0	5	2	5	1	4	2	1	1	4	2	4	4	rs149070457		TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	ce43974e-70a9-4f22-9686-f0462c597acb	g.chr2:163291905C>A	ENST00000332142.5	-	8	1856	c.1757G>T	c.(1756-1758)gGa>gTa	p.G586V	KCNH7_ENST00000328032.4_Missense_Mutation_p.G579V	NM_033272.3	NP_150375.2	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 7	586					circadian rhythm (GO:0007623)|potassium ion transmembrane transport (GO:0071805)|protein heterooligomerization (GO:0051291)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	inward rectifier potassium channel activity (GO:0005242)|signal transducer activity (GO:0004871)|voltage-gated potassium channel activity (GO:0005249)	p.G586E(1)		NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Doxazosin(DB00590)|Ibutilide(DB00308)|Miconazole(DB01110)|Prazosin(DB00457)|Terazosin(DB01162)	ATCCAACCATCCGATTTTGTC	0.433																																					GBM(196;1492 2208 17507 24132 45496)	ENST00000332142.5																			1	Substitution - Missense(1)	p.G586E(1)	skin(1)	NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108						c.(1756-1758)gGa>gTa		potassium voltage-gated channel, subfamily H (eag-related), member 7	Ibutilide(DB00308)						191	171	178					2																	163291905		2203	4300	6503	SO:0001583	missense	90134				regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity	g.chr2:163291905C>A	AF032897	CCDS2219.1, CCDS2220.1	2q24.3	2012-07-05			ENSG00000184611	ENSG00000184611		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	18863	protein-coding gene	gene with protein product		608169				16382104	Standard	NM_173162		Approved	Kv11.3, HERG3, erg3	uc002uch.2	Q9NS40	OTTHUMG00000132069	ENST00000332142.5:c.1757G>T	2.37:g.163291905C>A	ENSP00000331727:p.Gly586Val					KCNH7_ENST00000328032.4_Missense_Mutation_p.G579V	p.G586V	NM_033272.3	NP_150375.2	Q9NS40	KCNH7_HUMAN			8	1856	-			586					Q53QU4|Q53TB7|Q53TP9|Q8IV15	Missense_Mutation	SNP	ENST00000332142.5	37	c.1757G>T	CCDS2219.1	.	.	.	.	.	.	.	.	.	.	C	27.0	4.794356	0.90453	.	.	ENSG00000184611	ENST00000332142;ENST00000328032	D;D	0.99680	-5.27;-6.38	5.9	5.9	0.94986	Ion transport (1);	0.045973	0.85682	D	0.000000	D	0.99799	0.9914	M	0.92412	3.305	0.80722	D	1	D;D	0.67145	0.996;0.992	D;D	0.74348	0.983;0.956	D	0.97507	1.0064	10	0.72032	D	0.01	.	20.2789	0.98501	0.0:1.0:0.0:0.0	.	579;586	Q9NS40-2;Q9NS40	.;KCNH7_HUMAN	V	586;579	ENSP00000331727:G586V;ENSP00000333781:G579V	ENSP00000333781:G579V	G	-	2	0	KCNH7	163000151	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.788000	0.95919	0.650000	0.86243	GGA		0.433	KCNH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255093.1	NM_033272		5	136	1	0	0.184627	1	0.184627	5	136					A	163291905	C	A	163291905	3	1	110	1	0	0	0	0	1	0	0	0	8037	855	30	5	1935	5	KCNH7	2	163291905	Missense_Mutation	SNP	C	TCGA-EJ-8474-01A-11D-2395-08	136122077	163291905	79907468	15	5988											
SCN9A	6335	broad.mit.edu	37	chr2	167133601	167133601	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atccactctccacacagcacGcggaacacaatcaggaagga	15	4	8	14	2	2	0	1	0	1	0	4	3	3	3	2	3	2	1	2	3	3	0	rs199653503	byFrequency	TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	ce43974e-70a9-4f22-9686-f0462c597acb	g.chr2:167133601G>A	ENST00000409435.1	-	15	2765	c.2766C>T	c.(2764-2766)cgC>cgT	p.R922R	AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000303354.6_Silent_p.R923R|SCN9A_ENST00000409672.1_Silent_p.R911R|SCN9A_ENST00000375387.4_Silent_p.R923R			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	922					behavioral response to pain (GO:0048266)|inflammatory response (GO:0006954)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|post-embryonic development (GO:0009791)|response to toxic substance (GO:0009636)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	sodium ion binding (GO:0031402)|voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lacosamide(DB06218)|Lidocaine(DB00281)|Ranolazine(DB00243)|Rufinamide(DB06201)|Valproic Acid(DB00313)|Zonisamide(DB00909)	CACACAGCACGCGGAACACAA	0.483													G|||	2	0.000399361	8e-04	0.0014	5008	,	,		14772	0		0	False		,,,				2504	0					ENST00000375387.4																			0				NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108						c.(2767-2769)cgC>cgT		sodium channel, voltage-gated, type IX, alpha subunit	Lamotrigine(DB00555)|Lidocaine(DB00281)	G		16,4390	22.3+/-47.3	0,16,2187	199	190	193		2733	-11.3	0	2	dbSNP_134	193	0,8594		0,0,4297	no	coding-synonymous	SCN9A	NM_002977.3		0,16,6484	AA,AG,GG		0.0,0.3631,0.1231		911/1978	167133601	16,12984	2203	4297	6500	SO:0001819	synonymous_variant	6335					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:167133601G>A	X82835	CCDS46441.1	2q24	2014-09-17	2007-01-23		ENSG00000169432	ENSG00000169432		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10597	protein-coding gene	gene with protein product		603415	"sodium channel, voltage-gated, type IX, alpha polypeptide"			7720699, 10198179, 16382098	Standard	NM_002977		Approved	Nav1.7, PN1, NE-NA, NENA, ETHA	uc010fpl.3	Q15858	OTTHUMG00000154044	ENST00000409435.1:c.2766C>T	2.37:g.167133601G>A						SCN9A_ENST00000303354.6_Silent_p.R923R|SCN9A_ENST00000409672.1_Silent_p.R911R|AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000409435.1_Silent_p.R922R	p.R923R			Q15858	SCN9A_HUMAN			16	3109	-			922					A1BUH5|Q6B4R9|Q6B4S0|Q6B4S1|Q70HX1|Q70HX2|Q8WTU1|Q8WWN4	Silent	SNP	ENST00000409435.1	37	c.2769C>T	CCDS46441.1																																																																																				0.483	SCN9A-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333639.1	NM_002977		28	276	0	0	0	1	0	28	276					A	167133601	G	A	167133601	2	1	110	1	0	0	0	0	0	0	0	1	13925	1074	38	1		1	SCN9A	2	167133601	Silent	SNP	G	TCGA-EJ-8474-01A-11D-2395-08	3841696	167133601	76065772	16	5989											
ADAM23	8745	broad.mit.edu	37	chr2	207435477	207435477	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctttagctatttgagcccaCggaatgtggaaatggatacg	11	12	11	7	2	1	1	0	1	1	0	1	4	1	4	1	3	3	1	1	3	5	5			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	ce43974e-70a9-4f22-9686-f0462c597acb	g.chr2:207435477C>T	ENST00000264377.3	+	16	1836	c.1508C>T	c.(1507-1509)aCg>aTg	p.T503M	ADAM23_ENST00000374416.1_Missense_Mutation_p.T503M|ADAM23_ENST00000374415.3_Missense_Mutation_p.T503M	NM_003812.2	NP_003803.1	O75077	ADA23_HUMAN	ADAM metallopeptidase domain 23	503	Disintegrin. {ECO:0000255|PROSITE- ProRule:PRU00068}.				cell adhesion (GO:0007155)|central nervous system development (GO:0007417)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(2)|breast(1)|endometrium(6)|kidney(3)|large_intestine(5)|liver(2)|lung(22)|ovary(2)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	51				LUSC - Lung squamous cell carcinoma(261;0.0961)|Lung(261;0.182)|Epithelial(149;0.205)		TTTGAGCCCACGGAATGTGGA	0.418																																					Melanoma(194;1127 2130 19620 24042 27855)	ENST00000264377.3																			0				NS(2)|breast(1)|endometrium(6)|kidney(3)|large_intestine(5)|liver(2)|lung(22)|ovary(2)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	51						c.(1507-1509)aCg>aTg		ADAM metallopeptidase domain 23							192	175	181					2																	207435477		2203	4300	6503	SO:0001583	missense	8745				cell adhesion|central nervous system development|proteolysis	extracellular region|integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding	g.chr2:207435477C>T	AB009672	CCDS2369.1	2q33	2008-06-12	2005-08-18		ENSG00000114948	ENSG00000114948		"ADAM metallopeptidase domain containing"	202	protein-coding gene	gene with protein product		603710	"a disintegrin and metalloproteinase domain 23"			9693107	Standard	NM_003812		Approved	MDC3	uc002vbq.4	O75077	OTTHUMG00000132919	ENST00000264377.3:c.1508C>T	2.37:g.207435477C>T	ENSP00000264377:p.Thr503Met					ADAM23_ENST00000374416.1_Missense_Mutation_p.T503M|ADAM23_ENST00000374415.3_Missense_Mutation_p.T503M	p.T503M	NM_003812.2	NP_003803.1	O75077	ADA23_HUMAN		LUSC - Lung squamous cell carcinoma(261;0.0961)|Lung(261;0.182)|Epithelial(149;0.205)	16	1836	+			503			Disintegrin.		A2RU59	Missense_Mutation	SNP	ENST00000264377.3	37	c.1508C>T	CCDS2369.1	.	.	.	.	.	.	.	.	.	.	C	23.8	4.455658	0.84209	.	.	ENSG00000114948	ENST00000264377;ENST00000374416;ENST00000431817;ENST00000374415	T;T;T	0.02015	4.51;4.5;4.51	5.91	5.91	0.95273	Blood coagulation inhibitor, Disintegrin (1);Metallopeptidase, catalytic domain (1);	0.000000	0.64402	D	0.000005	T	0.13072	0.0317	M	0.78456	2.415	0.80722	D	1	D	0.76494	0.999	P	0.62184	0.899	T	0.00014	-1.2406	10	0.87932	D	0	.	19.8897	0.96925	0.0:1.0:0.0:0.0	.	503	O75077	ADA23_HUMAN	M	503;503;397;503	ENSP00000264377:T503M;ENSP00000363537:T503M;ENSP00000363536:T503M	ENSP00000264377:T503M	T	+	2	0	ADAM23	207143722	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	6.521000	0.73778	2.804000	0.96469	0.462000	0.41574	ACG		0.418	ADAM23-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256431.2	NM_003812		7	51	0	0	0	1	0	7	51					T	207435477	C	T	207435477	3	4	110	1	0	0	0	0	1	0	0	0	245	536	19	1	1570	1	ADAM23	2	207435477	Missense_Mutation	SNP	C	TCGA-EJ-8474-01A-11D-2395-08	40301876	207435477	35763896	17	5990											
PID1	55022	broad.mit.edu	37	chr2	229890607	229890607	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cggcggtgcagtaggcgatgCgggccacctggaaggtatcc	7	6	17	11	4	0	0	0	0	0	0	1	2	1	1	3	6	2	3	3	6	3	2			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	ce43974e-70a9-4f22-9686-f0462c597acb	g.chr2:229890607C>T	ENST00000354069.6	-	3	524	c.494G>A	c.(493-495)cGc>cAc	p.R165H	PID1_ENST00000482518.2_Intron|PID1_ENST00000409462.1_Missense_Mutation_p.R83H|PID1_ENST00000392055.3_Missense_Mutation_p.R132H|PID1_ENST00000392054.3_Missense_Mutation_p.R163H			Q7Z2X4	PCLI1_HUMAN	phosphotyrosine interaction domain containing 1	165	PID. {ECO:0000255|PROSITE- ProRule:PRU00148}.				cellular response to cytokine stimulus (GO:0071345)|cellular response to fatty acid (GO:0071398)|cellular response to interleukin-6 (GO:0071354)|cellular response to leptin stimulus (GO:0044320)|cellular response to tumor necrosis factor (GO:0071356)|energy reserve metabolic process (GO:0006112)|mitochondrion morphogenesis (GO:0070584)|negative regulation of ATP biosynthetic process (GO:2001170)|negative regulation of establishment of protein localization to plasma membrane (GO:0090005)|negative regulation of glucose import in response to insulin stimulus (GO:2001274)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of mitochondrial DNA replication (GO:0090298)|negative regulation of protein phosphorylation (GO:0001933)|positive regulation of ATP biosynthetic process (GO:2001171)|positive regulation of fat cell proliferation (GO:0070346)|positive regulation of gene expression (GO:0010628)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of G1/S transition of mitotic cell cycle (GO:2000045)|regulation of mitochondrial fusion (GO:0010635)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of reactive oxygen species metabolic process (GO:2000377)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(4)|endometrium(3)|large_intestine(5)|lung(8)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	26		Renal(207;0.0112)|all_lung(227;0.0191)|Lung NSC(271;0.0851)|all_hematologic(139;0.104)|Acute lymphoblastic leukemia(138;0.171)		Epithelial(121;3.08e-11)|all cancers(144;2.28e-08)|LUSC - Lung squamous cell carcinoma(224;0.0145)|Lung(261;0.0189)		GTAGGCGATGCGGGCCACCTG	0.582																																						ENST00000392054.3																			0				breast(4)|endometrium(3)|large_intestine(5)|lung(8)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	26						c.(487-489)cGc>cAc		phosphotyrosine interaction domain containing 1							139	128	132					2																	229890607		2203	4300	6503	SO:0001583	missense	55022					cytoplasm		g.chr2:229890607C>T	AK096636	CCDS2471.1, CCDS42830.1	2q36.3	2007-02-02			ENSG00000153823	ENSG00000153823			26084	protein-coding gene	gene with protein product		612930				17124247, 16815647, 15221005	Standard	NM_001100818		Approved	NYGGF4, FLJ20701	uc002vps.4	Q7Z2X4	OTTHUMG00000133191	ENST00000354069.6:c.494G>A	2.37:g.229890607C>T	ENSP00000283937:p.Arg165His					PID1_ENST00000409462.1_Missense_Mutation_p.R83H|PID1_ENST00000392055.3_Missense_Mutation_p.R132H|PID1_ENST00000482518.2_Intron|PID1_ENST00000354069.6_Missense_Mutation_p.R165H	p.R163H	NM_017933.4	NP_060403.3	Q7Z2X4	PCLI1_HUMAN		Epithelial(121;3.08e-11)|all cancers(144;2.28e-08)|LUSC - Lung squamous cell carcinoma(224;0.0145)|Lung(261;0.0189)	4	827	-		Renal(207;0.0112)|all_lung(227;0.0191)|Lung NSC(271;0.0851)|all_hematologic(139;0.104)|Acute lymphoblastic leukemia(138;0.171)	165			PID.		B3KU82|Q68CJ2|Q6ZUS3|Q8IXL0|Q9NWP6	Missense_Mutation	SNP	ENST00000354069.6	37	c.488G>A		.	.	.	.	.	.	.	.	.	.	C	32	5.168261	0.94768	.	.	ENSG00000153823	ENST00000392054;ENST00000409462;ENST00000392055;ENST00000542363;ENST00000354069	.	.	.	5.85	5.85	0.93711	Phosphotyrosine interaction domain (2);Pleckstrin homology-type (1);	0.000000	0.85682	D	0.000000	T	0.79347	0.4430	M	0.69823	2.125	0.80722	D	1	D;D;D;D	0.89917	0.999;0.999;1.0;1.0	D;D;D;D	0.87578	0.991;0.991;0.998;0.998	T	0.77411	-0.2598	8	.	.	.	-45.1254	19.1613	0.93533	0.0:1.0:0.0:0.0	.	83;132;163;165	Q7Z2X4-3;Q7Z2X4-4;Q7Z2X4-2;Q7Z2X4	.;.;.;PCLI1_HUMAN	H	163;83;132;165;165	.	.	R	-	2	0	PID1	229598851	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.408000	0.80041	2.768000	0.95171	0.655000	0.94253	CGC		0.582	PID1-005	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000331810.2	NM_017933		6	145	0	0	0	1	0	6	145					T	229890607	C	T	229890607	3	4	110	1	0	0	0	0	1	0	0	0	11882	768	27	1	262	1	PID1	2	229890607	Missense_Mutation	SNP	C	TCGA-EJ-8474-01A-11D-2395-08	22455130	229890607	13308766	18	5991											
SCN11A	11280	broad.mit.edu	37	chr3	38962717	38962717	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaccagcttcttcacagagcGtagcaaggcccccacgatga	11	6	10	14	2	2	2	1	1	1	1	2	4	2	2	3	1	3	3	3	1	2	3			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	ce43974e-70a9-4f22-9686-f0462c597acb	g.chr3:38962717G>A	ENST00000302328.3	-	6	940	c.742C>T	c.(742-744)Cgc>Tgc	p.R248C	SCN11A_ENST00000444237.2_Missense_Mutation_p.R248C|SCN11A_ENST00000456224.3_Missense_Mutation_p.R248C|SCN11A_ENST00000450244.1_Missense_Mutation_p.R248C	NM_014139.2	NP_054858.2	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	248					cell death (GO:0008219)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|regulation of sensory perception of pain (GO:0051930)|response to drug (GO:0042493)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	C-fiber (GO:0044299)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)|Valproic Acid(DB00313)|Zonisamide(DB00909)	TTCACAGAGCGTAGCAAGGCC	0.537																																						ENST00000450244.1																			0				NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119						c.(742-744)Cgc>Tgc		sodium channel, voltage-gated, type XI, alpha subunit	Cocaine(DB00907)						113	109	110					3																	38962717		2203	4300	6503	SO:0001583	missense	11280				response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr3:38962717G>A	AF126739	CCDS33737.1	3p22.2	2012-02-26	2007-01-23		ENSG00000168356	ENSG00000168356		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10583	protein-coding gene	gene with protein product		604385	"sodium channel, voltage-gated, type XI, alpha polypeptide", "sodium channel, voltage-gated, type XII, alpha"	SCN12A		10444332, 16382098	Standard	NM_014139		Approved	Nav1.9, NaN, SNS-2	uc021wvy.1	Q9UI33	OTTHUMG00000048246	ENST00000302328.3:c.742C>T	3.37:g.38962717G>A	ENSP00000307599:p.Arg248Cys					SCN11A_ENST00000302328.3_Missense_Mutation_p.R248C|SCN11A_ENST00000444237.2_Missense_Mutation_p.R248C|SCN11A_ENST00000456224.3_Missense_Mutation_p.R248C	p.R248C			Q9UI33	SCNBA_HUMAN		Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	6	940	-			248					A6NN05|C9JD48|C9JR31|Q68K15|Q8NDX3|Q9UHE0|Q9UHM0	Missense_Mutation	SNP	ENST00000302328.3	37	c.742C>T	CCDS33737.1	.	.	.	.	.	.	.	.	.	.	G	25.2	4.617954	0.87359	.	.	ENSG00000168356	ENST00000302328;ENST00000450244;ENST00000456224;ENST00000444237	D;D;D;D	0.98747	-5.11;-5.11;-5.11;-5.11	4.67	4.67	0.58626	Ion transport (1);	0.217778	0.42964	D	0.000631	D	0.98804	0.9597	M	0.74389	2.26	0.49582	D	0.999803	D	0.76494	0.999	D	0.63597	0.916	D	0.99301	1.0901	10	0.54805	T	0.06	.	15.1097	0.72346	0.0:0.0:1.0:0.0	.	248	Q9UI33	SCNBA_HUMAN	C	248	ENSP00000307599:R248C;ENSP00000400945:R248C;ENSP00000416757:R248C;ENSP00000408028:R248C	ENSP00000307599:R248C	R	-	1	0	SCN11A	38937721	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	7.423000	0.80229	2.147000	0.66899	0.585000	0.79938	CGC		0.537	SCN11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109746.4	NM_014139		8	221	0	0	0	1	0	8	221					A	38962717	G	A	38962717	3	1	110	1	0	0	0	0	1	0	0	0	13913	1145	40	1	4717	1	SCN11A	3	38962717	Missense_Mutation	SNP	G	TCGA-EJ-8474-01A-11D-2395-08		38962717	159059713	19	5992											
ZNF35	7584	broad.mit.edu	37	chr3	44700525	44700525	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttggacaaaagccttttacgTgtagcgtgtgtgggaaagga	11	11	14	5	2	0	0	0	0	0	0	0	3	0	3	1	3	3	1	1	3	5	4			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	ce43974e-70a9-4f22-9686-f0462c597acb	g.chr3:44700525T>C	ENST00000396056.2	+	4	905	c.670T>C	c.(670-672)Tgt>Cgt	p.C224R	RP11-944L7.4_ENST00000457331.1_RNA|ZNF35_ENST00000542250.1_Missense_Mutation_p.C64R|ZNF35_ENST00000296092.3_3'UTR	NM_003420.3	NP_003411.3	P13682	ZNF35_HUMAN	zinc finger protein 35	224					cellular response to retinoic acid (GO:0071300)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cell (GO:0005623)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			large_intestine(3)|liver(2)|lung(4)|ovary(1)|prostate(1)|skin(1)	12		Ovarian(412;0.0228)		OV - Ovarian serous cystadenocarcinoma(275;2.49e-27)|KIRC - Kidney renal clear cell carcinoma(197;0.0475)|Kidney(197;0.0595)		GCCTTTTACGTGTAGCGTGTG	0.428																																						ENST00000396056.2																			0				large_intestine(3)|liver(2)|lung(4)|ovary(1)|prostate(1)|skin(1)	12						c.(670-672)Tgt>Cgt		zinc finger protein 35							76	75	75					3																	44700525		2203	4300	6503	SO:0001583	missense	7584				cellular response to retinoic acid|spermatogenesis	nucleus|perinuclear region of cytoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr3:44700525T>C	X07289	CCDS2718.2	3p21.32	2013-01-08	2006-05-11		ENSG00000169981	ENSG00000169981		"Zinc fingers, C2H2-type"	13099	protein-coding gene	gene with protein product		194533	"zinc finger protein 35 (clone HF.10)"			2108922, 1572646	Standard	NM_003420		Approved	HF.10, HF10, Zfp105	uc003cnq.3	P13682	OTTHUMG00000133091	ENST00000396056.2:c.670T>C	3.37:g.44700525T>C	ENSP00000379368:p.Cys224Arg					RP11-944L7.4_ENST00000457331.1_RNA|ZNF35_ENST00000296092.3_3'UTR|ZNF35_ENST00000542250.1_Missense_Mutation_p.C64R	p.C224R	NM_003420.3	NP_003411.3	P13682	ZNF35_HUMAN		OV - Ovarian serous cystadenocarcinoma(275;2.49e-27)|KIRC - Kidney renal clear cell carcinoma(197;0.0475)|Kidney(197;0.0595)	4	905	+		Ovarian(412;0.0228)	224					B2RBU6|Q53Y54|Q96D01	Missense_Mutation	SNP	ENST00000396056.2	37	c.670T>C	CCDS2718.2	.	.	.	.	.	.	.	.	.	.	T	15.76	2.928432	0.52759	.	.	ENSG00000169981	ENST00000396056;ENST00000542250	T;T	0.60171	0.21;0.21	5.1	5.1	0.69264	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.50627	D	0.000112	D	0.82926	0.5143	H	0.96333	3.805	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.88308	0.2954	10	0.87932	D	0	-12.8516	14.0409	0.64674	0.0:0.0:0.0:1.0	.	224	P13682	ZNF35_HUMAN	R	224;64	ENSP00000379368:C224R;ENSP00000443714:C64R	ENSP00000379368:C224R	C	+	1	0	ZNF35	44675529	1.000000	0.71417	0.462000	0.27118	0.439000	0.31926	7.028000	0.76470	2.145000	0.66743	0.533000	0.62120	TGT		0.428	ZNF35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256749.4	NM_003420		7	131	0	0	0	1	0	7	131					C	44700525	T	C	44700525	3	2	110	1	0	0	0	0	1	0	0	0	17859	1696	59	4	680	4	ZNF35	3	44700525	Missense_Mutation	SNP	T	TCGA-EJ-8474-01A-11D-2395-08	5737808	44700525	153321905	20	5993											
TLR9	54106	broad.mit.edu	37	chr3	52255490	52255490	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggccagcaggaagctggcgcGcaagagaccactgacccggt	10	3	15	13	3	0	2	0	1	0	1	0	4	0	3	3	4	2	3	3	4	2	0	rs369679861		TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	ce43974e-70a9-4f22-9686-f0462c597acb	g.chr3:52255490G>A	ENST00000360658.2	-	2	3475	c.2842C>T	c.(2842-2844)Cgc>Tgc	p.R948C	TLR9_ENST00000494383.1_Missense_Mutation_p.A1101V|TLR9_ENST00000597542.1_Missense_Mutation_p.R972C	NM_017442.3	NP_059138.1	Q9NR96	TLR9_HUMAN	toll-like receptor 9	948	TIR. {ECO:0000255|PROSITE- ProRule:PRU00204}.				defense response to bacterium (GO:0042742)|defense response to Gram-negative bacterium (GO:0050829)|I-kappaB phosphorylation (GO:0007252)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|maintenance of gastrointestinal epithelium (GO:0030277)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of interleukin-8 production (GO:0032717)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|positive regulation of chemokine production (GO:0032722)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-alpha biosynthetic process (GO:0045356)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-18 production (GO:0032741)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of toll-like receptor signaling pathway (GO:0034123)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of cytokine secretion (GO:0050707)|response to molecule of bacterial origin (GO:0002237)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|early phagosome (GO:0032009)|endolysosome membrane (GO:0036020)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|plasma membrane (GO:0005886)	interleukin-1 receptor binding (GO:0005149)|siRNA binding (GO:0035197)|transmembrane signaling receptor activity (GO:0004888)			endometrium(4)|large_intestine(11)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(193;2.41e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	Chloroquine(DB00608)|Hydroxychloroquine(DB01611)	AAGCTGGCGCGCAAGAGACCA	0.662																																						ENST00000597542.1																			0				endometrium(4)|large_intestine(11)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	30						c.(2914-2916)Cgc>Tgc		toll-like receptor 9	Chloroquine(DB00608)	G	CYS/ARG	1,4401		0,1,2200	36	39	38		2842	4.9	0.7	3		38	0,8594		0,0,4297	no	missense	TLR9	NM_017442.3	180	0,1,6497	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	948/1033	52255490	1,12995	2201	4297	6498	SO:0001583	missense	54106				defense response to bacterium|fibroblast growth factor receptor signaling pathway|I-kappaB phosphorylation|inflammatory response|innate immune response|insulin receptor signaling pathway|maintenance of gastrointestinal epithelium|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of NF-kappaB transcription factor activity|negative regulation of toll-like receptor signaling pathway|positive regulation of chemokine production|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|response to molecule of bacterial origin	apical plasma membrane|basolateral plasma membrane|early phagosome|endoplasmic reticulum membrane|endosome membrane|extracellular region|integral to membrane|lysosome	interleukin-1 receptor binding|siRNA binding|transmembrane receptor activity	g.chr3:52255490G>A	AF259262	CCDS2848.1	3p21.3	2006-02-23			ENSG00000239732	ENSG00000239732		"CD molecules"	15633	protein-coding gene	gene with protein product		605474				11022119	Standard	NM_017442		Approved	CD289	uc003ddb.3	Q9NR96	OTTHUMG00000158106	ENST00000360658.2:c.2842C>T	3.37:g.52255490G>A	ENSP00000353874:p.Arg948Cys					TLR9_ENST00000360658.2_Missense_Mutation_p.R948C|TLR9_ENST00000494383.1_Missense_Mutation_p.A1101V	p.R972C			Q9NR96	TLR9_HUMAN		BRCA - Breast invasive adenocarcinoma(193;2.41e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	9	3871	-			948			TIR.		B3Y661|D1CS56|Q6UVZ2|Q9HD68|Q9HD69|Q9HD70|Q9NYC2|Q9NYC3	Missense_Mutation	SNP	ENST00000360658.2	37	c.2914C>T	CCDS2848.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.30|16.30	3.084694|3.084694	0.55861|0.55861	2.27E-4|2.27E-4	0.0|0.0	ENSG00000173366|ENSG00000239732	ENST00000494383|ENST00000360658	.|T	.|0.09163	.|3.01	5.81|5.81	4.94|4.94	0.65067|0.65067	.|Toll/interleukin-1 receptor homology (TIR) domain (3);	.|0.000000	.|0.41194	.|D	.|0.000931	T|T	0.35422|0.35422	0.0931|0.0931	M|M	0.82823|0.82823	2.61|2.61	0.58432|0.58432	D|D	0.999998|0.999998	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.97110	.|0.999;1.0	T|T	0.22626|0.22626	-1.0211|-1.0211	5|10	.|0.87932	.|D	.|0	.|.	12.6515|12.6515	0.56764|0.56764	0.0801:0.0:0.9199:0.0|0.0801:0.0:0.9199:0.0	.|.	.|1045;948	.|B4E0A1;Q9NR96	.|.;TLR9_HUMAN	V|C	1101|948	.|ENSP00000353874:R948C	.|ENSP00000353874:R948C	A|R	-|-	2|1	0|0	RP11-330H6.5|TLR9	52230530|52230530	0.127000|0.127000	0.22367|0.22367	0.691000|0.691000	0.30163|0.30163	0.375000|0.375000	0.29983|0.29983	1.732000|1.732000	0.38146|0.38146	1.460000|1.460000	0.47911|0.47911	0.591000|0.591000	0.81541|0.81541	GCG|CGC		0.662	TLR9-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000350203.1			4	110	0	0	0	1	0	4	110					A	52255490	G	A	52255490	3	1	110	1	0	0	0	0	1	0	0	0	15955	1087	38	1	260	1	TLR9	3	52255490	Missense_Mutation	SNP	G	TCGA-EJ-8474-01A-11D-2395-08	7554965	52255490	145766940	21	5994											
EPHA3	2042	broad.mit.edu	37	chr3	89259294	89259294	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttacaaagattgacaccatTgcagctgatgaaagtttcac	14	12	7	8	0	1	4	1	3	0	1	1	4	1	4	1	0	3	3	1	0	3	5			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	ce43974e-70a9-4f22-9686-f0462c597acb	g.chr3:89259294T>G	ENST00000336596.2	+	3	663	c.438T>G	c.(436-438)atT>atG	p.I146M	EPHA3_ENST00000452448.2_Missense_Mutation_p.I146M|EPHA3_ENST00000494014.1_Missense_Mutation_p.I146M	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN	EPH receptor A3	146	Eph LBD. {ECO:0000255|PROSITE- ProRule:PRU00883}.				cell adhesion (GO:0007155)|cell migration (GO:0016477)|cellular response to retinoic acid (GO:0071300)|ephrin receptor signaling pathway (GO:0048013)|fasciculation of motor neuron axon (GO:0097156)|fasciculation of sensory neuron axon (GO:0097155)|positive regulation of neuron projection development (GO:0010976)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of epithelial to mesenchymal transition (GO:0010717)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule cytoskeleton organization (GO:0070507)|regulation of Rho GTPase activity (GO:0032319)	early endosome (GO:0005769)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|GPI-linked ephrin receptor activity (GO:0005004)			NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		TTGACACCATTGCAGCTGATG	0.418										TSP Lung(6;0.00050)																												ENST00000336596.2																			0				NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139						c.(436-438)atT>atG		EPH receptor A3							153	142	146					3																	89259294		2203	4300	6503	SO:0001583	missense	2042					extracellular region|integral to plasma membrane	ATP binding	g.chr3:89259294T>G	M83941	CCDS2922.1, CCDS46875.1	3p11.2	2013-02-11	2004-10-28		ENSG00000044524	ENSG00000044524	2.7.10.1	"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3387	protein-coding gene	gene with protein product		179611	"EphA3"	ETK, ETK1, TYRO4		1737782, 1311845	Standard	NM_005233		Approved	HEK, HEK4	uc003dqy.3	P29320	OTTHUMG00000159040	ENST00000336596.2:c.438T>G	3.37:g.89259294T>G	ENSP00000337451:p.Ile146Met	TSP Lung(6;0.00050)				EPHA3_ENST00000494014.1_Missense_Mutation_p.I146M|EPHA3_ENST00000452448.2_Missense_Mutation_p.I146M	p.I146M	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)	3	663	+	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)	146					Q9H2V3|Q9H2V4	Missense_Mutation	SNP	ENST00000336596.2	37	c.438T>G	CCDS2922.1	.	.	.	.	.	.	.	.	.	.	T	16.17	3.046411	0.55110	.	.	ENSG00000044524	ENST00000336596;ENST00000452448;ENST00000494014	T;T;T	0.15256	2.44;2.44;2.44	5.57	0.361	0.16107	Ephrin receptor, ligand binding (2);Galactose-binding domain-like (1);	0.000000	0.85682	D	0.000000	T	0.47078	0.1426	M	0.93197	3.39	0.48762	D	0.9997	D;D	0.89917	0.996;1.0	D;D	0.80764	0.991;0.994	T	0.55667	-0.8105	9	.	.	.	.	10.8025	0.46497	0.0:0.3172:0.0:0.6828	.	146;146	P29320;P29320-2	EPHA3_HUMAN;.	M	146	ENSP00000337451:I146M;ENSP00000399926:I146M;ENSP00000419190:I146M	.	I	+	3	3	EPHA3	89341984	0.998000	0.40836	1.000000	0.80357	0.994000	0.84299	0.434000	0.21494	0.070000	0.16634	0.455000	0.32223	ATT		0.418	EPHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352995.1	NM_005233		10	207	0	0	0	1	0	10	207					G	89259294	T	G	89259294	3	3	110	1	0	0	0	0	1	0	0	0	5168	1800	63	5	448	5	EPHA3	3	89259294	Missense_Mutation	SNP	T	TCGA-EJ-8474-01A-11D-2395-08	37003804	89259294	108763136	22	5995											
MYLK	4638	broad.mit.edu	37	chr3	123456319	123456319	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tcatcttggttgactccatgGatttccagaacctgcatgcc	8	13	8	12	0	2	2	1	1	1	1	4	3	4	3	4	2	3	2	4	2	1	3			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	ce43974e-70a9-4f22-9686-f0462c597acb	g.chr3:123456319G>T	ENST00000475616.1	-	5	659	c.660C>A	c.(658-660)atC>atA	p.I220I	MYLK_ENST00000360304.3_Silent_p.I220I|MYLK_ENST00000346322.5_Silent_p.I220I|MYLK_ENST00000360772.3_Silent_p.I220I|MYLK_ENST00000359169.1_Silent_p.I220I			Q15746	MYLK_HUMAN	myosin light chain kinase	220	Ig-like C2-type 2.				actin filament organization (GO:0007015)|aorta smooth muscle tissue morphogenesis (GO:0060414)|bleb assembly (GO:0032060)|cellular hypotonic response (GO:0071476)|muscle contraction (GO:0006936)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cell migration (GO:0030335)|positive regulation of wound healing (GO:0090303)|protein phosphorylation (GO:0006468)|smooth muscle contraction (GO:0006939)|tonic smooth muscle contraction (GO:0014820)	cell-cell junction (GO:0005911)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|metal ion binding (GO:0046872)|myosin light chain kinase activity (GO:0004687)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		TGACTCCATGGATTTCCAGAA	0.547																																						ENST00000360772.3																			0				NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113						c.(658-660)atC>atA		myosin light chain kinase							235	186	203					3																	123456319		2203	4300	6503	SO:0001819	synonymous_variant	4638				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity	g.chr3:123456319G>T	X85337	CCDS3023.1, CCDS43141.1, CCDS46896.1, CCDS46897.1, CCDS58849.1	3q21	2013-02-11	2008-01-23		ENSG00000065534	ENSG00000065534	2.7.11.18	"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	7590	protein-coding gene	gene with protein product	"smooth muscle myosin light chain kinase"	600922	"myosin, light polypeptide kinase"			8575746	Standard	NM_053026		Approved	MLCK, smMLCK, MYLK1, MLCK1	uc003ego.3	Q15746	OTTHUMG00000141304	ENST00000475616.1:c.660C>A	3.37:g.123456319G>T						MYLK_ENST00000360304.3_Silent_p.I220I|MYLK_ENST00000346322.5_Silent_p.I220I|MYLK_ENST00000475616.1_Silent_p.I220I|MYLK_ENST00000359169.1_Silent_p.I220I	p.I220I			Q15746	MYLK_HUMAN		GBM - Glioblastoma multiforme(114;0.0736)	9	1038	-		Lung NSC(201;0.0496)	220			Ig-like C2-type 2.		B4DUE3|D3DN97|O95796|O95797|O95798|O95799|Q14844|Q16794|Q17S15|Q3ZCP9|Q5MY99|Q5MYA0|Q6P2N0|Q7Z4J0|Q9C0L5|Q9UBG5|Q9UBY6|Q9UIT9	Silent	SNP	ENST00000475616.1	37	c.660C>A	CCDS46896.1																																																																																				0.547	MYLK-004	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356464.1	NM_053025		9	218	1	0	1.04858e-14	1	1.17341e-14	9	218					T	123456319	G	T	123456319	2	4	110	1	0	0	0	0	0	0	0	1	10056	1164	41	5		5	MYLK	3	123456319	Silent	SNP	G	TCGA-EJ-8474-01A-11D-2395-08	34197025	123456319	74566111	23	5996											
MYL5	4636	broad.mit.edu	37	chr4	673714	673714	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtaacaggcaagaccaacGtcaaggacgacgagctggac	14	4	12	11	3	1	1	1	0	0	1	1	5	1	3	1	3	3	3	1	3	4	1	rs552131207		TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	ce43974e-70a9-4f22-9686-f0462c597acb	g.chr4:673714G>A	ENST00000400159.2	+	4	304	c.199G>A	c.(199-201)Gtc>Atc	p.V67I	MYL5_ENST00000505477.1_Missense_Mutation_p.V26I|MYL5_ENST00000506838.1_Missense_Mutation_p.V26I|MYL5_ENST00000511290.1_Missense_Mutation_p.V26I	NM_002477.1	NP_002468.1	Q02045	MYL5_HUMAN	myosin, light chain 5, regulatory	67					regulation of muscle contraction (GO:0006937)	muscle myosin complex (GO:0005859)	calcium ion binding (GO:0005509)|structural constituent of muscle (GO:0008307)			endometrium(1)|kidney(1)|lung(1)	3						CAAGACCAACGTCAAGGACGA	0.607													G|||	1	0.000199681	0	0	5008	,	,		18391	0		0	False		,,,				2504	0.001					ENST00000506838.1																			0				endometrium(1)|kidney(1)|lung(1)	3						c.(76-78)Gtc>Atc		myosin, light chain 5, regulatory							80	93	89					4																	673714		2198	4298	6496	SO:0001583	missense	4636				regulation of muscle contraction	muscle myosin complex	calcium ion binding|structural constituent of muscle	g.chr4:673714G>A		CCDS43197.1	4p16	2013-01-10	2006-09-29		ENSG00000215375	ENSG00000215375		"Myosins / Light chain", "EF-hand domain containing"	7586	protein-coding gene	gene with protein product		160782	"myosin, light polypeptide 5, regulatory"			1284596	Standard	NM_002477		Approved		uc003gav.3	Q02045	OTTHUMG00000159971	ENST00000400159.2:c.199G>A	4.37:g.673714G>A	ENSP00000383023:p.Val67Ile					MYL5_ENST00000511290.1_Missense_Mutation_p.V26I|MYL5_ENST00000400159.2_Missense_Mutation_p.V67I|MYL5_ENST00000505477.1_Missense_Mutation_p.V26I	p.V26I			Q02045	MYL5_HUMAN			5	2600	+			67					Q8IXL8	Missense_Mutation	SNP	ENST00000400159.2	37	c.76G>A	CCDS43197.1	.	.	.	.	.	.	.	.	.	.	G	8.730	0.916411	0.17907	.	.	ENSG00000215375	ENST00000506838;ENST00000505477;ENST00000511290;ENST00000400159;ENST00000507804	T;T;T;T;T	0.78816	-1.09;-1.09;-1.09;-1.21;-1.21	4.12	2.37	0.29283	EF-hand-like domain (1);	0.000000	0.28730	U	0.014333	T	0.66386	0.2784	L	0.46947	1.48	0.20764	N	0.999853	B	0.12013	0.005	B	0.04013	0.001	T	0.50591	-0.8810	10	0.23891	T	0.37	.	8.0198	0.30402	0.2081:0.0:0.7919:0.0	.	67	Q02045	MYL5_HUMAN	I	26;26;26;67;72	ENSP00000427153:V26I;ENSP00000423118:V26I;ENSP00000425162:V26I;ENSP00000383023:V67I;ENSP00000427317:V72I	ENSP00000383023:V67I	V	+	1	0	MYL5	663714	0.171000	0.23029	0.134000	0.22075	0.061000	0.15899	1.439000	0.35013	0.226000	0.20979	0.561000	0.74099	GTC		0.607	MYL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358570.2	NM_002477		37	58	0	0	0	1	0	37	58					A	673714	G	A	673714	3	1	110	1	0	0	0	0	1	0	0	0	10050	1145	40	1	213	1	MYL5	4	673714	Missense_Mutation	SNP	G	TCGA-EJ-8474-01A-11D-2395-08		673714	190480562	24	5997											
KIAA1530	57654	broad.mit.edu	37	chr4	1348988	1348988	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttggagctcgtactgagaaaAtacaaggagctggacatcga	14	8	12	7	2	0	1	0	1	0	1	2	6	0	4	0	3	4	3	0	3	5	3			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	ce43974e-70a9-4f22-9686-f0462c597acb	g.chr4:1348988A>G	ENST00000389851.4	+	7	1578	c.1131A>G	c.(1129-1131)aaA>aaG	p.K377K	UVSSA_ENST00000511216.1_Silent_p.K377K|AC078852.1_ENST00000504748.1_RNA|UVSSA_ENST00000507531.1_Silent_p.K377K	NM_020894.2	NP_065945.2	Q2YD98	UVSSA_HUMAN	UV-stimulated scaffold protein A	377					protein ubiquitination (GO:0016567)|response to UV (GO:0009411)|transcription-coupled nucleotide-excision repair (GO:0006283)	chromosome (GO:0005694)	RNA polymerase II core binding (GO:0000993)										TACTGAGAAAATACAAGGAGC	0.627																																						ENST00000389851.4																			0											c.(1129-1131)aaA>aaG		UV-stimulated scaffold protein A							52	53	53					4																	1348988		2203	4298	6501	SO:0001819	synonymous_variant	57654							g.chr4:1348988A>G	BC021930	CCDS33938.1	4p16.3	2012-04-27	2012-04-27	2012-04-27		ENSG00000163945			29304	protein-coding gene	gene with protein product		614632	"KIAA1530"	KIAA1530		10819331, 22466610, 22466611, 22466612	Standard	NM_020894		Approved		uc003gde.4	Q2YD98		ENST00000389851.4:c.1131A>G	4.37:g.1348988A>G						UVSSA_ENST00000507531.1_Silent_p.K377K|UVSSA_ENST00000511216.1_Silent_p.K377K	p.K377K	NM_020894.2	NP_065945.2	Q2YD98	K1530_HUMAN			7	1578	+			377					A8K9E6|B2RU11|Q8WTX4|Q9P1Z8	Silent	SNP	ENST00000389851.4	37	c.1131A>G	CCDS33938.1																																																																																				0.627	UVSSA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359480.1	NM_020894		16	21	0	0	0	1	0	16	21					G	1348988	A	G	1348988	2	3	110	1	0	0	0	0	0	0	0	1	8241	98	4	4		4	KIAA1530	4	1348988	Silent	SNP	A	TCGA-EJ-8474-01A-11D-2395-08	675274	1348988	189805288	25	5998											
TMPRSS11F	389208	broad.mit.edu	37	chr4	68938119	68938119	+	Frame_Shift_Del	DEL	T	T	-																															ttgatataaagccttttcaaTttttttcttgatttgttcag																										TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	ce43974e-70a9-4f22-9686-f0462c597acb	g.chr4:68938119delT	ENST00000356291.2	-	5	495	c.436delA	c.(436-438)attfs	p.I146fs	UBA6-AS1_ENST00000500538.2_RNA|UBA6-AS1_ENST00000511571.1_RNA|UBA6-AS1_ENST00000499180.2_RNA	NM_207407.2	NP_997290.2	Q6ZWK6	TM11F_HUMAN	transmembrane protease, serine 11F	146	SEA. {ECO:0000255|PROSITE- ProRule:PRU00188}.					extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(4)	39						GCCTTTTCAATTTTTTTCTTG	0.313																																						ENST00000356291.2																			0				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(4)	39						c.(436-438)ttfs		transmembrane protease, serine 11F							94	95	94					4																	68938119		2203	4296	6499	SO:0001589	frameshift_variant	389208				proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity	g.chr4:68938119delT	AK122625	CCDS3520.1	4q13.2	2010-04-13			ENSG00000198092	ENSG00000198092		"Serine peptidases / Transmembrane"	29994	protein-coding gene	gene with protein product							Standard	NM_207407		Approved	FLJ16046	uc003hdt.1	Q6ZWK6	OTTHUMG00000129307	ENST00000356291.2:c.436delA	4.37:g.68938119delT	ENSP00000348639:p.Ile146fs					RP11-453E17.1_ENST00000500538.2_RNA|RP11-453E17.1_ENST00000511571.1_RNA|RP11-453E17.1_ENST00000499180.2_RNA	p.I146fs	NM_207407.2	NP_997290.2	Q6ZWK6	TM11F_HUMAN			5	495	-			146			SEA.		A8MXX2	Frame_Shift_Del	DEL	ENST00000356291.2	37	c.436delA	CCDS3520.1																																																																																				0.313	TMPRSS11F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251439.1	NM_207407		20	43						20	43	---	---	---	---	-	68938119	T	-	68938119	7	5	110	1	0	1	0	1	0	0	0	0	16240	1493	52	0	904	0	TMPRSS11F	4	68938119	Frame_Shift_Del	DEL	T	TCGA-EJ-8474-01A-11D-2395-08	67589131	68938119	122216157	26	5999											
BMP2K	55589	broad.mit.edu	37	chr4	79792152	79792152	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agcaacagcagcagcagcagCagcagcagcagcaccaccac	15	0	10	16	0	0	0	0	0	0	0	0	0	0	0	2	0	11	10	2	0	1	0			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	ce43974e-70a9-4f22-9686-f0462c597acb	g.chr4:79792152C>T	ENST00000335016.5	+	11	1613	c.1447C>T	c.(1447-1449)Cag>Tag	p.Q483*	BMP2K_ENST00000502871.1_Nonsense_Mutation_p.Q483*	NM_198892.1	NP_942595.1	Q9NSY1	BMP2K_HUMAN	BMP2 inducible kinase	483	Gln/His-rich.			Missing (in Ref. 2; CAB70863). {ECO:0000305}.	regulation of bone mineralization (GO:0030500)	nucleus (GO:0005634)	ATP binding (GO:0005524)|phosphatase regulator activity (GO:0019208)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	13						gcagcagcagcagcagcagca	0.507																																						ENST00000335016.5																			0				NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	13						c.(1447-1449)Cag>Tag		BMP2 inducible kinase							19	23	21					4																	79792152		2073	4047	6120	SO:0001587	stop_gained	55589					nucleus	ATP binding|protein serine/threonine kinase activity	g.chr4:79792152C>T	AB015331	CCDS34019.1, CCDS47083.1	4q21.21	2008-05-15			ENSG00000138756	ENSG00000138756			18041	protein-coding gene	gene with protein product							Standard	NM_017593		Approved	DKFZp434K0614, BIKe	uc003hlk.3	Q9NSY1	OTTHUMG00000160900	ENST00000335016.5:c.1447C>T	4.37:g.79792152C>T	ENSP00000334836:p.Gln483*					BMP2K_ENST00000502871.1_Nonsense_Mutation_p.Q483*	p.Q483*	NM_198892.1	NP_942595.1	Q9NSY1	BMP2K_HUMAN			11	1613	+			483	Missing (in Ref. 2; CAB70863).		Gln/His-rich.		O94791|Q4W5H2|Q8IYF2|Q8N2G7|Q8NHG9|Q9NTG8	Nonsense_Mutation	SNP	ENST00000335016.5	37	c.1447C>T	CCDS47083.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.53|16.53	3.149711|3.149711	0.57151|0.57151	.|.	.|.	ENSG00000138756|ENSG00000138756	ENST00000502613|ENST00000502871;ENST00000335016;ENST00000264889	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|3.785800	.|0.00763	.|U	.|0.001140	T|.	0.11665|.	0.0284|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.27706|.	-1.0066|.	2|.	.|0.05959	.|T	.|0.93	.|.	5.5339|5.5339	0.17001|0.17001	0.0:0.9999:0.0:1.0E-4|0.0:0.9999:0.0:1.0E-4	.|.	.|.	.|.	.|.	V|X	175|483;483;497	.|.	.|ENSP00000264889:Q497X	A|Q	+|+	2|1	0|0	BMP2K|BMP2K	80011176|80011176	0.999000|0.999000	0.42202|0.42202	0.139000|0.139000	0.22197|0.22197	0.047000|0.047000	0.14425|0.14425	1.064000|1.064000	0.30579|0.30579	0.161000|0.161000	0.19458|0.19458	0.163000|0.163000	0.16589|0.16589	GCA|CAG		0.507	BMP2K-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_017593		6	62	0	0	0	1	0	6	62					T	79792152	C	T	79792152	4	4	110	1	0	0	0	0	0	1	0	0	1460	711	25	3	1489	3	BMP2K	4	79792152	Nonsense_Mutation	SNP	C	TCGA-EJ-8474-01A-11D-2395-08	10854033	79792152	111362124	27	6000											
HNRNPD	3184	broad.mit.edu	37	chr4	83280638	83280638	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cactaccttatctacactctCcgattctttaaatagcacaa	13	13	2	13	1	3	0	0	0	3	0	4	1	3	0	2	0	3	1	2	0	7	7			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	ce43974e-70a9-4f22-9686-f0462c597acb	g.chr4:83280638C>A	ENST00000313899.7	-	3	722	c.445G>T	c.(445-447)Gag>Tag	p.E149*	HNRNPD_ENST00000541060.1_Intron|HNRNPD_ENST00000353341.4_Nonsense_Mutation_p.E149*|HNRNPD_ENST00000352301.4_Nonsense_Mutation_p.E130*|HNRNPD_ENST00000508119.1_5'Flank|HNRNPD_ENST00000543098.1_Nonsense_Mutation_p.E97*	NM_031370.2	NP_112738.1	Q14103	HNRPD_HUMAN	heterogeneous nuclear ribonucleoprotein D (AU-rich element RNA binding protein 1, 37kDa)	149	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				circadian regulation of translation (GO:0097167)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|mRNA splicing, via spliceosome (GO:0000398)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of translation (GO:0045727)|regulation of circadian rhythm (GO:0042752)|regulation of mRNA stability (GO:0043488)|regulation of transcription, DNA-templated (GO:0006355)|RNA catabolic process (GO:0006401)|RNA metabolic process (GO:0016070)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|telomeric DNA binding (GO:0042162)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(1)	7						TCTACACTCTCCGATTCTTTA	0.358																																						ENST00000313899.7																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(1)	7						c.(445-447)Gag>Tag		heterogeneous nuclear ribonucleoprotein D (AU-rich element RNA binding protein 1, 37kDa)							94	91	92					4																	83280638		2203	4300	6503	SO:0001587	stop_gained	3184				nuclear mRNA splicing, via spliceosome|positive regulation of transcription, DNA-dependent|RNA catabolic process|transcription, DNA-dependent	cytosol|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|RNA binding|telomeric DNA binding	g.chr4:83280638C>A	AF026126	CCDS3590.1, CCDS3591.1, CCDS3592.1	4q21	2013-02-12	2002-08-29	2008-04-18	ENSG00000138668	ENSG00000138668		"RNA binding motif (RRM) containing"	5036	protein-coding gene	gene with protein product		601324	"heterogeneous nuclear ribonucleoprotein D (AU-rich element RNA-binding protein 1, 37kD)"	AUF1, HNRPD		9615222	Standard	NM_001003810		Approved		uc003hmm.1	Q14103	OTTHUMG00000130290	ENST00000313899.7:c.445G>T	4.37:g.83280638C>A	ENSP00000313199:p.Glu149*					HNRNPD_ENST00000352301.4_Nonsense_Mutation_p.E130*|HNRNPD_ENST00000353341.4_Nonsense_Mutation_p.E149*|HNRNPD_ENST00000543098.1_Nonsense_Mutation_p.E97*|HNRNPD_ENST00000541060.1_Intron	p.E149*	NM_031370.2	NP_112738.1	Q14103	HNRPD_HUMAN			3	722	-			149			RRM 1.		A8K9J2|P07029|Q01858|Q14100|Q14101|Q14102|Q4W5A1|Q9UCE8|Q9UCE9	Nonsense_Mutation	SNP	ENST00000313899.7	37	c.445G>T	CCDS3592.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	37|37	6.498932|6.498932	0.97616|0.97616	.|.	.|.	ENSG00000138668|ENSG00000138668	ENST00000313899;ENST00000353341;ENST00000352301;ENST00000543098;ENST00000307213;ENST00000509263;ENST00000507010;ENST00000515432;ENST00000503822|ENST00000514671	.|.	.|.	.|.	5.86|5.86	5.86|5.86	0.93980|0.93980	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	.|T	.|0.77205	.|0.4096	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.73742	.|-0.3887	.|4	0.40728|.	T|.	0.16|.	.|.	20.5632|20.5632	0.99335|0.99335	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	X|V	149;149;130;97;124;82;149;51;130|52	.|.	ENSP00000307544:E124X|.	E|G	-|-	1|2	0|0	HNRNPD|HNRNPD	83499662|83499662	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	7.368000|7.368000	0.79567|0.79567	2.937000|2.937000	0.99478|0.99478	0.650000|0.650000	0.86243|0.86243	GAG|GGA		0.358	HNRNPD-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252630.2	NM_031370		11	96	1	0	4.3838e-07	1	4.6827e-07	11	96					A	83280638	C	A	83280638	4	1	110	1	0	0	0	0	0	1	0	0	7264	864	30	5	646	5	HNRNPD	4	83280638	Nonsense_Mutation	SNP	C	TCGA-EJ-8474-01A-11D-2395-08	3488486	83280638	107873638	28	6001											
HEATR7B2	133558	broad.mit.edu	37	chr5	41005012	41005012	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catgcttccaaaggattggtTccttcatgagctgaaataat	12	13	8	8	0	1	2	1	2	0	0	3	3	3	3	2	2	2	3	2	2	3	5			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	ce43974e-70a9-4f22-9686-f0462c597acb	g.chr5:41005012T>C	ENST00000399564.4	-	36	4325	c.3875A>G	c.(3874-3876)gAa>gGa	p.E1292G	MROH2B_ENST00000506092.2_Missense_Mutation_p.E847G	NM_173489.4	NP_775760.3	Q7Z745	MRO2B_HUMAN	maestro heat-like repeat family member 2B	1292																	AAGGATTGGTTCCTTCATGAG	0.488																																						ENST00000399564.4																			0											c.(3874-3876)gAa>gGa		maestro heat-like repeat family member 2B							90	86	87					5																	41005012		1993	4165	6158	SO:0001583	missense	133558							g.chr5:41005012T>C		CCDS47202.1	5p13.1	2012-12-19	2012-12-19	2012-12-19	ENSG00000171495	ENSG00000171495		"maestro heat-like repeat containing"	26857	protein-coding gene	gene with protein product			"HEAT repeat family member 7B2"	HEATR7B2		12477932	Standard	NM_173489		Approved	DKFZp781F0822, FLJ40243	uc003jmj.4	Q7Z745	OTTHUMG00000162151	ENST00000399564.4:c.3875A>G	5.37:g.41005012T>C	ENSP00000382476:p.Glu1292Gly					MROH2B_ENST00000506092.2_Missense_Mutation_p.E847G	p.E1292G	NM_173489.4	NP_775760.3					36	4325	-								Q68DM1|Q7Z4U4|Q8N7X3	Missense_Mutation	SNP	ENST00000399564.4	37	c.3875A>G	CCDS47202.1	.	.	.	.	.	.	.	.	.	.	T	22.6	4.306492	0.81247	.	.	ENSG00000171495	ENST00000506092;ENST00000296803;ENST00000399564	T;T	0.66280	-0.2;-0.2	6.0	6.0	0.97389	Armadillo-type fold (1);	3.322900	0.00424	N	0.000065	T	0.69744	0.3145	L	0.43152	1.355	0.38016	D	0.934704	D	0.58620	0.983	P	0.53062	0.717	T	0.53436	-0.8439	10	0.19590	T	0.45	.	12.9028	0.58135	0.0:0.0:0.0:1.0	.	1292	Q7Z745	HTRB2_HUMAN	G	847;997;1292	ENSP00000441504:E847G;ENSP00000382476:E1292G	ENSP00000296803:E997G	E	-	2	0	HEATR7B2	41040769	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.913000	0.56394	2.304000	0.77564	0.523000	0.50628	GAA		0.488	MROH2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367558.2	NM_173489		7	60	0	0	0	1	0	7	60					C	41005012	T	C	41005012	3	2	110	1	0	0	0	0	1	0	0	0	7035	1783	62	4	910	4	HEATR7B2	5	41005012	Missense_Mutation	SNP	T	TCGA-EJ-8474-01A-11D-2395-08		41005012	139910248	29	6002											
TNF	7124	broad.mit.edu	37	chr6	31544556	31544556	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctcttcaggatcatcttctcGaaccccgagtgacaagcctg	9	10	8	14	2	5	1	2	1	3	0	6	4	5	2	3	1	2	0	3	1	2	2			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	ce43974e-70a9-4f22-9686-f0462c597acb	g.chr6:31544556G>A	ENST00000449264.2	+	3	420	c.245G>A	c.(244-246)cGa>cAa	p.R82Q		NM_000594.3	NP_000585.2	P01375	TNFA_HUMAN	tumor necrosis factor	82					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of MAPK activity (GO:0000187)|activation of MAPKKK activity (GO:0000185)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|calcium-mediated signaling (GO:0019722)|cell activation (GO:0001775)|cellular response to amino acid stimulus (GO:0071230)|cellular response to nicotine (GO:0071316)|cellular response to organic cyclic compound (GO:0071407)|chronic inflammatory response to antigenic stimulus (GO:0002439)|defense response to Gram-positive bacterium (GO:0050830)|embryonic digestive tract development (GO:0048566)|epithelial cell proliferation involved in salivary gland morphogenesis (GO:0060664)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway (GO:0097191)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|glucose metabolic process (GO:0006006)|humoral immune response (GO:0006959)|inflammatory response (GO:0006954)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|JNK cascade (GO:0007254)|leukocyte tethering or rolling (GO:0050901)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|MAPK cascade (GO:0000165)|necroptotic signaling pathway (GO:0097527)|negative regulation of alkaline phosphatase activity (GO:0010693)|negative regulation of branching involved in lung morphogenesis (GO:0061048)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cytokine secretion involved in immune response (GO:0002740)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of gene expression (GO:0010629)|negative regulation of glucose import (GO:0046325)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of L-glutamate transport (GO:0002037)|negative regulation of lipid catabolic process (GO:0050995)|negative regulation of lipid storage (GO:0010888)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of protein complex disassembly (GO:0043242)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of viral genome replication (GO:0045071)|organ morphogenesis (GO:0009887)|osteoclast differentiation (GO:0030316)|positive regulation of apoptotic process (GO:0043065)|positive regulation of calcidiol 1-monooxygenase activity (GO:0060559)|positive regulation of chemokine (C-X-C motif) ligand 2 production (GO:2000343)|positive regulation of chemokine biosynthetic process (GO:0045080)|positive regulation of chemokine production (GO:0032722)|positive regulation of chronic inflammatory response to antigenic stimulus (GO:0002876)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of cytokine production (GO:0001819)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fever generation (GO:0031622)|positive regulation of gene expression (GO:0010628)|positive regulation of hair follicle development (GO:0051798)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of humoral immune response mediated by circulating immunoglobulin (GO:0002925)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-18 production (GO:0032741)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 biosynthetic process (GO:0045416)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|positive regulation of mitosis (GO:0045840)|positive regulation of mononuclear cell migration (GO:0071677)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of NFAT protein import into nucleus (GO:0051533)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of podosome assembly (GO:0071803)|positive regulation of programmed cell death (GO:0043068)|positive regulation of protein complex assembly (GO:0031334)|positive regulation of protein complex disassembly (GO:0043243)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein localization to cell surface (GO:2000010)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein transport (GO:0051222)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of synaptic transmission (GO:0050806)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of translational initiation by iron (GO:0045994)|positive regulation of vitamin D biosynthetic process (GO:0060557)|protein import into nucleus, translocation (GO:0000060)|protein kinase B signaling (GO:0043491)|receptor biosynthetic process (GO:0032800)|regulation of branching involved in salivary gland morphogenesis (GO:0060693)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of immunoglobulin secretion (GO:0051023)|regulation of insulin secretion (GO:0050796)|regulation of reactive oxygen species metabolic process (GO:2000377)|response to activity (GO:0014823)|response to drug (GO:0042493)|response to glucocorticoid (GO:0051384)|response to hypoxia (GO:0001666)|response to mechanical stimulus (GO:0009612)|response to salt stress (GO:0009651)|response to virus (GO:0009615)|sequestering of triglyceride (GO:0030730)|skeletal muscle contraction (GO:0003009)|transformed cell apoptotic process (GO:0006927)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|phagocytic cup (GO:0001891)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	cytokine activity (GO:0005125)|identical protein binding (GO:0042802)|protease binding (GO:0002020)|transcription regulatory region DNA binding (GO:0044212)|tumor necrosis factor receptor binding (GO:0005164)			large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|skin(3)	8		Ovarian(999;0.00556)			Adalimumab(DB00051)|Amrinone(DB01427)|Certolizumab pegol(DB08904)|Chloroquine(DB00608)|Clenbuterol(DB01407)|Epinephrine(DB00668)|Etanercept(DB00005)|Glucosamine(DB01296)|golimumab(DB06674)|Infliximab(DB00065)|Pomalidomide(DB08910)|Pranlukast(DB01411)|Pseudoephedrine(DB00852)|Thalidomide(DB01041)	TCATCTTCTCGAACCCCGAGT	0.502									Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of																													ENST00000449264.2																			0				large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|skin(3)	8						c.(244-246)cGa>cAa		tumor necrosis factor	Adalimumab(DB00051)|Adenosine(DB00640)|Amrinone(DB01427)|Atorvastatin(DB01076)|Chloroquine(DB00608)|Clenbuterol(DB01407)|Etanercept(DB00005)|Glucosamine(DB01296)|Infliximab(DB00065)|Naltrexone(DB00704)|Pranlukast(DB01411)|Procaterol(DB01366)|Saquinavir(DB01232)|Simvastatin(DB00641)|Thalidomide(DB01041)						177	182	181					6																	31544556		1511	2709	4220	SO:0001583	missense	7124	Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of	Familial Cancer Database	incl.: Familial Head and Neck Cancer	activation of caspase activity|activation of MAPK activity|activation of MAPKKK activity|anti-apoptosis|cellular response to nicotine|chronic inflammatory response to antigenic stimulus|embryonic digestive tract development|induction of apoptosis via death domain receptors|induction of necroptosis by extracellular signals|leukocyte tethering or rolling|necrotic cell death|negative regulation of branching involved in lung morphogenesis|negative regulation of cytokine secretion involved in immune response|negative regulation of fat cell differentiation|negative regulation of interleukin-6 production|negative regulation of lipid catabolic process|negative regulation of lipid storage|negative regulation of viral genome replication|positive regulation of calcidiol 1-monooxygenase activity|positive regulation of chemokine biosynthetic process|positive regulation of chemokine production|positive regulation of cytokine secretion|positive regulation of ERK1 and ERK2 cascade|positive regulation of fever generation|positive regulation of heterotypic cell-cell adhesion|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of membrane protein ectodomain proteolysis|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of NFAT protein import into nucleus|positive regulation of nitric oxide biosynthetic process|positive regulation of osteoclast differentiation|positive regulation of peptidyl-serine phosphorylation|positive regulation of podosome assembly|positive regulation of protein complex disassembly|positive regulation of smooth muscle cell proliferation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of vitamin D biosynthetic process|protein import into nucleus, translocation|receptor biosynthetic process|regulation of insulin secretion|response to glucocorticoid stimulus|response to salt stress|response to virus|sequestering of triglyceride|transformed cell apoptosis|tumor necrosis factor-mediated signaling pathway	external side of plasma membrane|extracellular space|integral to plasma membrane|membrane raft|phagocytic cup|recycling endosome	cytokine activity|identical protein binding|protease binding|transcription regulatory region DNA binding|tumor necrosis factor receptor binding	g.chr6:31544556G>A	X02910	CCDS4702.1	6p21.3	2013-05-22	2010-05-04		ENSG00000232810	ENSG00000232810		"Tumor necrosis factor (ligand) superfamily"	11892	protein-coding gene	gene with protein product	"TNF superfamily, member 2"	191160	"tumor necrosis factor (TNF superfamily, member 2)"	TNFA		2413547, 6392892	Standard	NM_000594		Approved	TNFSF2, DIF, TNF-alpha	uc003nui.4	P01375	OTTHUMG00000031194	ENST00000449264.2:c.245G>A	6.37:g.31544556G>A	ENSP00000398698:p.Arg82Gln						p.R82Q	NM_000594.3	NP_000585.2	P01375	TNFA_HUMAN			3	420	+		Ovarian(999;0.00556)	82					O43647|Q9P1Q2|Q9UIV3	Missense_Mutation	SNP	ENST00000449264.2	37	c.245G>A	CCDS4702.1	.	.	.	.	.	.	.	.	.	.	G	3.425	-0.117247	0.06838	.	.	ENSG00000232810	ENST00000449264	D	0.85629	-2.01	4.62	-0.254	0.12992	Tumour necrosis factor-like (1);	2.127950	0.02592	N	0.100069	T	0.45013	0.1321	N	0.04705	-0.18	0.09310	N	0.999992	B	0.13145	0.007	B	0.08055	0.003	T	0.47736	-0.9094	10	0.11182	T	0.66	.	7.0418	0.25025	0.6791:0.0:0.3209:0.0	.	82	P01375	TNFA_HUMAN	Q	82	ENSP00000398698:R82Q	ENSP00000398698:R82Q	R	+	2	0	TNF	31652535	0.127000	0.22367	0.305000	0.25099	0.968000	0.65278	0.222000	0.17699	0.073000	0.16731	0.655000	0.94253	CGA		0.502	TNF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076390.2			16	201	0	0	0	1	0	16	201					A	31544556	G	A	31544556	3	1	110	1	0	0	0	0	1	0	0	0	16268	1058	37	2	255	2	TNF	6	31544556	Missense_Mutation	SNP	G	TCGA-EJ-8474-01A-11D-2395-08		31544556	139570511	30	6003											
OPN5	221391	broad.mit.edu	37	chr6	47776029	47776029	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cctacttgcaaaatctgcagCgatgtacaatcccatcattt	12	12	5	12	1	2	0	1	0	1	0	3	1	3	0	2	0	5	3	2	0	5	4			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	ce43974e-70a9-4f22-9686-f0462c597acb	g.chr6:47776029C>T	ENST00000371211.2	+	5	924	c.896C>T	c.(895-897)gCg>gTg	p.A299V	OPN5_ENST00000489301.2_Missense_Mutation_p.A299V|OPN5_ENST00000393699.2_Missense_Mutation_p.A299V|OPN5_ENST00000244799.4_3'UTR	NM_181744.3	NP_859528.1	Q6U736	OPN5_HUMAN	opsin 5	299					phototransduction (GO:0007602)|protein-chromophore linkage (GO:0018298)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)	G-protein coupled receptor activity (GO:0004930)|photoreceptor activity (GO:0009881)			endometrium(1)|large_intestine(3)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	29						AAATCTGCAGCGATGTACAAT	0.453																																					Melanoma(28;740 973 10870 42660 45347)	ENST00000489301.2																			0				endometrium(1)|large_intestine(3)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	29						c.(895-897)gCg>gTg		opsin 5							232	213	219					6																	47776029		2203	4300	6503	SO:0001583	missense	221391				phototransduction|protein-chromophore linkage|visual perception	integral to membrane	G-protein coupled receptor activity|photoreceptor activity	g.chr6:47776029C>T	AY288419	CCDS4923.1	6p12.3	2012-08-08	2004-01-23		ENSG00000124818	ENSG00000124818		"GPCR / Class A : Opsin receptors"	19992	protein-coding gene	gene with protein product	"neuropsin"	609042	"transmembrane protein 13"	TMEM13		14623103, 14623098	Standard	NR_033806		Approved	neuropsin, dJ402H5.1	uc003ozc.3	Q6U736	OTTHUMG00000014803	ENST00000371211.2:c.896C>T	6.37:g.47776029C>T	ENSP00000360255:p.Ala299Val					OPN5_ENST00000244799.4_3'UTR|OPN5_ENST00000371211.2_Missense_Mutation_p.A299V|OPN5_ENST00000393699.2_Missense_Mutation_p.A299V	p.A299V			Q6U736	OPN5_HUMAN			5	981	+			299					A0AV33|Q5T5B9|Q5T886|Q7Z603|Q86SL5	Missense_Mutation	SNP	ENST00000371211.2	37	c.896C>T	CCDS4923.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.658603	0.88154	.	.	ENSG00000124818	ENST00000489301;ENST00000371211;ENST00000393699	T;T;T	0.72835	-0.69;-0.69;-0.69	5.3	5.3	0.74995	GPCR, rhodopsin-like superfamily (1);	0.047393	0.85682	D	0.000000	T	0.69575	0.3126	L	0.55213	1.73	0.58432	D	0.999998	D	0.55800	0.973	P	0.49597	0.616	T	0.73483	-0.3968	10	0.66056	D	0.02	.	19.333	0.94299	0.0:1.0:0.0:0.0	.	299	Q6U736	OPN5_HUMAN	V	299	ENSP00000426991:A299V;ENSP00000360255:A299V;ENSP00000377302:A299V	ENSP00000360255:A299V	A	+	2	0	OPN5	47883988	1.000000	0.71417	0.996000	0.52242	0.996000	0.88848	7.445000	0.80570	2.644000	0.89710	0.655000	0.94253	GCG		0.453	OPN5-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000359451.1	NM_181744		58	129	0	0	0	1	0	58	129					T	47776029	C	T	47776029	3	4	110	1	0	0	0	0	1	0	0	0	10883	768	27	1	914	1	OPN5	6	47776029	Missense_Mutation	SNP	C	TCGA-EJ-8474-01A-11D-2395-08	16231473	47776029	123339038	31	6004											
EYS	346007	broad.mit.edu	37	chr6	66115187	66115187	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcataagtataagcagaactGctatttgggcaaattcctct	13	13	7	8	0	2	1	1	0	1	1	3	1	3	1	1	1	3	4	1	1	6	6			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	ce43974e-70a9-4f22-9686-f0462c597acb	g.chr6:66115187G>A	ENST00000370621.3	-	6	1462	c.936C>T	c.(934-936)agC>agT	p.S312S	EYS_ENST00000370616.2_Silent_p.S312S|EYS_ENST00000370618.3_Silent_p.S312S|EYS_ENST00000342421.5_Silent_p.S312S|EYS_ENST00000503581.1_Silent_p.S312S|EYS_ENST00000393380.2_Silent_p.S312S			Q5T1H1	EYS_HUMAN	eyes shut homolog (Drosophila)	312					detection of light stimulus involved in visual perception (GO:0050908)|skeletal muscle tissue regeneration (GO:0043403)	extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						AAGCAGAACTGCTATTTGGGC	0.378																																						ENST00000503581.1																			0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						c.(934-936)agC>agT		eyes shut homolog (Drosophila)							161	166	164					6																	66115187		2203	4300	6503	SO:0001819	synonymous_variant	346007				response to stimulus|visual perception	extracellular region	calcium ion binding	g.chr6:66115187G>A		CCDS4967.1, CCDS47445.1, CCDS47446.1	6q12	2014-01-28	2008-10-20	2008-10-20	ENSG00000188107	ENSG00000188107			21555	protein-coding gene	gene with protein product		612424	"chromosome 6 open reading frame 180", "EGF-like-domain, multiple 11", "retinitis pigmentosa 25 (autosomal recessive)", "EGF-like-domain, multiple 10", "chromosome 6 open reading frame 178", "chromosome 6 open reading frame 179"	C6orf180, EGFL11, RP25, EGFL10, C6orf178, C6orf179		18836446, 18976725	Standard	NM_001142800		Approved	dJ1018A4.2, bA166P24.2, SPAM, bA307F22.3, dJ303F19.1, bA74E24.1	uc011dxu.1	Q5T1H1	OTTHUMG00000014971	ENST00000370621.3:c.936C>T	6.37:g.66115187G>A						EYS_ENST00000393380.2_Silent_p.S312S|EYS_ENST00000370621.3_Silent_p.S312S|EYS_ENST00000370618.3_Silent_p.S312S|EYS_ENST00000342421.5_Silent_p.S312S|EYS_ENST00000370616.2_Silent_p.S312S	p.S312S	NM_001142800.1	NP_001136272.1	Q5T1H1	EYS_HUMAN			6	1473	-			312					A2RUR2|A8MVE7|B7TYK8|B7UUQ3|B7ZBE7|B7ZBE8|B7ZBR3|B9ZVD2|Q5SZM4|Q5T3C8|Q5T669|Q5TEL3|Q5TEL4|Q5VVG4|Q6UY05|Q9H557|Q9NQ15	Silent	SNP	ENST00000370621.3	37	c.936C>T																																																																																					0.378	EYS-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000351351.3	XM_294050		10	131	0	0	0	1	0	10	131					A	66115187	G	A	66115187	2	1	110	1	0	0	0	0	0	0	0	1	5332	1310	46	3		3	EYS	6	66115187	Silent	SNP	G	TCGA-EJ-8474-01A-11D-2395-08	18339158	66115187	104999880	32	6005											
CLVS2	134829	broad.mit.edu	37	chr6	123369870	123369870	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tttcctgaaggagaaaactcGgaaaagggtattcttttctt	12	14	9	6	1	2	2	0	1	2	1	4	4	3	3	1	3	1	1	1	3	6	6	rs376660185		TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	ce43974e-70a9-4f22-9686-f0462c597acb	g.chr6:123369870G>A	ENST00000275162.5	+	4	2003	c.668G>A	c.(667-669)cGg>cAg	p.R223Q	CLVS2_ENST00000368438.1_Missense_Mutation_p.R77Q	NM_001010852.3	NP_001010852.2	Q5SYC1	CLVS2_HUMAN	clavesin 2	223	CRAL-TRIO. {ECO:0000255|PROSITE- ProRule:PRU00056}.				lysosome organization (GO:0007040)	clathrin-coated vesicle (GO:0030136)|endosome (GO:0005768)|membrane (GO:0016020)|trans-Golgi network (GO:0005802)	phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|transporter activity (GO:0005215)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	40						GAGAAAACTCGGAAAAGGGTA	0.378																																						ENST00000275162.4																			0				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	40						c.(667-669)cGg>cAg		clavesin 2		G	GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	110	116	114		668	4.8	1	6		114	0,8600		0,0,4300	no	missense	CLVS2	NM_001010852.2	43	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	223/328	123369870	1,13005	2203	4300	6503	SO:0001583	missense	134829				lysosome organization	clathrin-coated vesicle|early endosome membrane|trans-Golgi network	phosphatidylinositol-3,5-bisphosphate binding|transporter activity	g.chr6:123369870G>A	AK095527	CCDS34525.1	6q22.31	2009-10-14	2009-10-14	2009-10-14	ENSG00000146352	ENSG00000146352			23046	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 212", "chromosome 6 open reading frame 213", "retinaldehyde binding protein 1-like 2"	C6orf212, C6orf213, RLBP1L2		19651769	Standard	NM_001010852		Approved	bA160A10.4	uc003pzi.1	Q5SYC1	OTTHUMG00000015495	ENST00000275162.5:c.668G>A	6.37:g.123369870G>A	ENSP00000275162:p.Arg223Gln					CLVS2_ENST00000368438.1_Missense_Mutation_p.R77Q	p.R223Q	NM_001010852.2	NP_001010852.2	Q5SYC1	CLVS2_HUMAN			4	2003	+			223			CRAL-TRIO.		B3KTG5|B4DHL0|C8UZT4|Q5SYC0	Missense_Mutation	SNP	ENST00000275162.5	37	c.668G>A	CCDS34525.1	.	.	.	.	.	.	.	.	.	.	G	29.8	5.033250	0.93575	2.27E-4	0.0	ENSG00000146352	ENST00000275162;ENST00000368438	T;T	0.77620	-1.11;-1.11	5.72	4.8	0.61643	Cellular retinaldehyde-binding/triple function, C-terminal (5);	0.055607	0.64402	D	0.000001	T	0.61837	0.2379	L	0.49256	1.55	0.80722	D	1	P	0.47841	0.901	B	0.37692	0.256	T	0.64740	-0.6336	10	0.33141	T	0.24	-16.4352	15.8674	0.79074	0.0:0.0:0.8639:0.1361	.	223	Q5SYC1	CLVS2_HUMAN	Q	223;77	ENSP00000275162:R223Q;ENSP00000357423:R77Q	ENSP00000275162:R223Q	R	+	2	0	CLVS2	123411569	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.394000	0.79862	2.850000	0.98022	0.650000	0.86243	CGG		0.378	CLVS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042042.2	NM_001010852		4	81	0	0	0	1	0	4	81					A	123369870	G	A	123369870	3	1	110	1	0	0	0	0	1	0	0	0	3572	1116	39	2	678	2	CLVS2	6	123369870	Missense_Mutation	SNP	G	TCGA-EJ-8474-01A-11D-2395-08	57254683	123369870	47745197	33	6006											
THEMIS	387357	broad.mit.edu	37	chr6	128134734	128134734	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgatctctaggtcataggccGttgggaactccctcggtcgc	6	10	12	13	4	2	0	1	0	1	0	6	2	3	1	2	4	1	1	2	4	3	3	rs200529297		TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	ce43974e-70a9-4f22-9686-f0462c597acb	g.chr6:128134734G>A	ENST00000368248.2	-	4	1200	c.1052C>T	c.(1051-1053)aCg>aTg	p.T351M	THEMIS_ENST00000543064.1_Missense_Mutation_p.T351M|THEMIS_ENST00000537166.1_Missense_Mutation_p.T316M|THEMIS_ENST00000368250.1_Missense_Mutation_p.T272M	NM_001010923.2	NP_001010923.1	Q8N1K5	THMS1_HUMAN	thymocyte selection associated	351	CABIT 2.				negative T cell selection (GO:0043383)|positive T cell selection (GO:0043368)|T cell receptor signaling pathway (GO:0050852)	cell-cell junction (GO:0005911)|COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(3)	60						GTCATAGGCCGTTGGGAACTC	0.473																																						ENST00000368250.1																			0				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(3)	60						c.(814-816)aCg>aTg		thymocyte selection associated							90	93	92					6																	128134734		2203	4300	6503	SO:0001583	missense	387357				negative T cell selection|positive T cell selection|T cell receptor signaling pathway	cytoplasm|nucleus		g.chr6:128134734G>A	AK094863	CCDS34534.1, CCDS55055.1	6q22.33	2012-02-08	2009-06-25	2009-06-25	ENSG00000172673	ENSG00000172673			21569	protein-coding gene	gene with protein product	"thymocyte expressed molecule involved in selection"	613607	"chromosome 6 open reading frame 207", "chromosome 6 open reading frame 190", "thymocyte selection pathway associated"	C6orf207, C6orf190, TSEPA		19597499, 19597498, 19597497	Standard	NM_001010923		Approved	bA325O24.4, FLJ40584, bA325O24.3	uc011ebt.2	Q8N1K5	OTTHUMG00000015534	ENST00000368248.2:c.1052C>T	6.37:g.128134734G>A	ENSP00000357231:p.Thr351Met					THEMIS_ENST00000543064.1_Missense_Mutation_p.T351M|THEMIS_ENST00000537166.1_Missense_Mutation_p.T316M|THEMIS_ENST00000368248.2_Missense_Mutation_p.T351M	p.T272M			Q8N1K5	THMS1_HUMAN			5	1313	-			351			CABIT 2.		A1L4F0|A8K7N1|B3KT31|B3KW32|B3KY07|F5H1J9|Q5T3C4|Q5T3C5|Q6MZT7	Missense_Mutation	SNP	ENST00000368248.2	37	c.815C>T	CCDS34534.1	.	.	.	.	.	.	.	.	.	.	G	19.17	3.775867	0.70107	.	.	ENSG00000172673	ENST00000368250;ENST00000543064;ENST00000368248;ENST00000537166;ENST00000434358	T;T;T;T;T	0.19669	2.13;2.13;2.13;2.13;2.13	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	T	0.46171	0.1379	M	0.82323	2.585	0.54753	D	0.999983	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.49688	-0.8913	10	0.62326	D	0.03	-16.7754	19.5143	0.95157	0.0:0.0:1.0:0.0	.	351;351	F5H1J9;Q8N1K5	.;THMS1_HUMAN	M	272;351;351;316;119	ENSP00000357233:T272M;ENSP00000439594:T351M;ENSP00000357231:T351M;ENSP00000439863:T316M;ENSP00000387740:T119M	ENSP00000357231:T351M	T	-	2	0	THEMIS	128176427	1.000000	0.71417	0.946000	0.38457	0.988000	0.76386	7.842000	0.86851	2.614000	0.88457	0.462000	0.41574	ACG		0.473	THEMIS-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		NM_001010923		16	144	0	0	0	1	0	16	144					A	128134734	G	A	128134734	3	1	110	1	0	0	0	0	1	0	0	0	15857	1145	40	1	1006	1	THEMIS	6	128134734	Missense_Mutation	SNP	G	TCGA-EJ-8474-01A-11D-2395-08	4764864	128134734	42980333	34	6007											
NPC1L1	29881	broad.mit.edu	37	chr7	44579425	44579425	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaaagggcagagccatacaCgccacacatggtgcccacag	13	3	11	14	1	0	1	0	0	0	1	0	1	0	1	3	2	3	2	3	2	2	1	rs146842539		TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	ce43974e-70a9-4f22-9686-f0462c597acb	g.chr7:44579425C>T	ENST00000289547.4	-	2	626	c.571G>A	c.(571-573)Gtg>Atg	p.V191M	NPC1L1_ENST00000423141.1_Missense_Mutation_p.V191M|NPC1L1_ENST00000546276.1_Missense_Mutation_p.V191M|NPC1L1_ENST00000381160.3_Missense_Mutation_p.V191M	NM_013389.2	NP_037521.2	Q9UHC9	NPCL1_HUMAN	NPC1-like 1	191					cholesterol biosynthetic process (GO:0006695)|cholesterol transport (GO:0030301)|intestinal cholesterol absorption (GO:0030299)|lipoprotein metabolic process (GO:0042157)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|sterol transport (GO:0015918)	brush border membrane (GO:0031526)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	drug binding (GO:0008144)|hedgehog receptor activity (GO:0008158)|myosin V binding (GO:0031489)|Rab GTPase binding (GO:0017137)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	57					Ezetimibe(DB00973)	GAGCCATACACGCCACACATG	0.612																																						ENST00000289547.4																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	57						c.(571-573)Gtg>Atg		NPC1-like 1	Ezetimibe(DB00973)	C	MET/VAL,MET/VAL	1,4405	2.1+/-5.4	0,1,2202	75	64	68		571,571	5	1	7	dbSNP_134	68	0,8600		0,0,4300	no	missense,missense	NPC1L1	NM_001101648.1,NM_013389.2	21,21	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging,probably-damaging	191/1333,191/1360	44579425	1,13005	2203	4300	6503	SO:0001583	missense	29881				cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process	apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane	hedgehog receptor activity|protein binding	g.chr7:44579425C>T		CCDS5491.1, CCDS43575.1, CCDS75587.1	7p13	2012-11-15	2012-11-15		ENSG00000015520	ENSG00000015520			7898	protein-coding gene	gene with protein product		608010	"NPC1 (Niemann-Pick disease, type C1, gene)-like 1"			10783261	Standard	NM_013389		Approved		uc003tlb.3	Q9UHC9	OTTHUMG00000023691	ENST00000289547.4:c.571G>A	7.37:g.44579425C>T	ENSP00000289547:p.Val191Met					NPC1L1_ENST00000546276.1_Missense_Mutation_p.V191M|NPC1L1_ENST00000381160.3_Missense_Mutation_p.V191M|NPC1L1_ENST00000423141.1_Missense_Mutation_p.V191M	p.V191M	NM_013389.2	NP_037521.2	Q9UHC9	NPCL1_HUMAN			2	626	-			191					A4D2J7|B7ZLE6|D3DVK9|Q17RV5|Q6R3Q4|Q9UHC8	Missense_Mutation	SNP	ENST00000289547.4	37	c.571G>A	CCDS5491.1	.	.	.	.	.	.	.	.	.	.	c	12.49	1.953094	0.34471	2.27E-4	0.0	ENSG00000015520	ENST00000289547;ENST00000381160;ENST00000546276;ENST00000423141	D;D;D;D	0.89415	-2.51;-2.51;-2.51;-2.51	5.04	5.04	0.67666	.	0.261682	0.33980	N	0.004379	D	0.90903	0.7141	M	0.75447	2.3	0.25834	N	0.984137	D;D;B;D	0.76494	0.982;0.999;0.2;0.997	B;P;B;P	0.54401	0.28;0.751;0.018;0.487	D	0.85333	0.1091	10	0.46703	T	0.11	-39.9348	9.4913	0.38962	0.0:0.9028:0.0:0.0972	.	191;191;191;191	B7ZLE6;Q9UHC9-3;Q17RV5;D3DVK9	.;.;.;.	M	191	ENSP00000289547:V191M;ENSP00000370552:V191M;ENSP00000438033:V191M;ENSP00000404670:V191M	ENSP00000289547:V191M	V	-	1	0	NPC1L1	44545950	0.424000	0.25490	0.992000	0.48379	0.899000	0.52679	2.889000	0.48601	2.344000	0.79699	0.455000	0.32223	GTG		0.612	NPC1L1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251256.1	NM_013389		5	98	0	0	0	1	0	5	98					T	44579425	C	T	44579425	3	4	110	1	0	0	0	0	1	0	0	0	10571	536	19	1	3584	1	NPC1L1	7	44579425	Missense_Mutation	SNP	C	TCGA-EJ-8474-01A-11D-2395-08		44579425	114559238	35	6008											
AKAP9	10142	broad.mit.edu	37	chr7	91667795	91667795	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtctagaatatctgggggAaaagaaaatactgcatcatc	15	10	9	7	0	3	2	1	0	2	2	4	3	3	3	0	2	2	1	0	2	8	3			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	ce43974e-70a9-4f22-9686-f0462c597acb	g.chr7:91667795A>G	ENST00000359028.2	+	18	4662	c.4437A>G	c.(4435-4437)ggA>ggG	p.G1479G	AKAP9_ENST00000356239.3_Silent_p.G1467G|AKAP9_ENST00000358100.2_Silent_p.G1479G			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	1479					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|Sertoli cell development (GO:0060009)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)|synaptic transmission (GO:0007268)|transport (GO:0006810)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|pericentriolar material (GO:0000242)|voltage-gated potassium channel complex (GO:0008076)	ion channel binding (GO:0044325)|protein complex scaffold (GO:0032947)|receptor binding (GO:0005102)			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			TATCTGGGGGAAAAGAAAATA	0.318			T	BRAF	papillary thyroid																																	ENST00000359028.2				Dom	yes		7	7q21-q22	10142	T	A kinase (PRKA) anchor protein (yotiao) 9			E	BRAF		papillary thyroid		0				NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155						c.(4435-4437)ggA>ggG		A kinase (PRKA) anchor protein 9							62	62	62					7																	91667795		2203	4299	6502	SO:0001819	synonymous_variant	10142				G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding	g.chr7:91667795A>G	AF091711	CCDS5622.1	7q21-q22	2014-09-17	2013-09-25		ENSG00000127914	ENSG00000127914		"A-kinase anchor proteins", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	379	protein-coding gene	gene with protein product	"A-kinase anchoring protein 450", "AKAP9-BRAF fusion protein", "AKAP120-like protein", "centrosome- and golgi-localized protein kinase N-associated protein", "protein kinase A anchoring protein 9", "A-kinase anchor protein, 350kDa", "protein phosphatase 1, regulatory subunit 45", "yotiao"	604001				9482789, 10390370, 24475373	Standard	NM_147185		Approved	KIAA0803, AKAP350, AKAP450, CG-NAP, YOTIAO, HYPERION, PRKA9, MU-RMS-40.16A, PPP1R45, LQT11	uc003ulg.3	Q99996	OTTHUMG00000131127	ENST00000359028.2:c.4437A>G	7.37:g.91667795A>G						AKAP9_ENST00000356239.3_Silent_p.G1467G|AKAP9_ENST00000358100.2_Silent_p.G1479G	p.G1479G			Q99996	AKAP9_HUMAN	STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)		18	4662	+	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		1479					A4D1F0|A4D1F2|A4D1F4|O14869|O43355|O94895|Q75N20|Q9UQH3|Q9UQQ4|Q9Y6B8|Q9Y6Y2	Silent	SNP	ENST00000359028.2	37	c.4437A>G																																																																																					0.318	AKAP9-202	KNOWN	basic	protein_coding	protein_coding		NM_005751		4	63	0	0	0	1	0	4	63					G	91667795	A	G	91667795	2	3	110	1	0	0	0	0	0	0	0	1	459	233	9	4		4	AKAP9	7	91667795	Silent	SNP	A	TCGA-EJ-8474-01A-11D-2395-08	47088370	91667795	67470868	36	6009											
PPP1R3A	5506	broad.mit.edu	37	chr7	113518488	113518488	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtctgttttctttgataattCttgaacctgcctaagatctc	8	18	6	9	0	4	3	0	2	4	1	5	3	4	3	2	0	2	1	2	0	3	7			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	ce43974e-70a9-4f22-9686-f0462c597acb	g.chr7:113518488C>A	ENST00000284601.3	-	4	2727	c.2659G>T	c.(2659-2661)Gaa>Taa	p.E887*		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	887					glycogen metabolic process (GO:0005977)	integral component of membrane (GO:0016021)				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						TTTGATAATTCTTGAACCTGC	0.363																																						ENST00000284601.3																			0				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						c.(2659-2661)Gaa>Taa		protein phosphatase 1, regulatory subunit 3A							86	83	84					7																	113518488		2202	4299	6501	SO:0001587	stop_gained	5506				glycogen metabolic process	integral to membrane		g.chr7:113518488C>A	AF024578	CCDS5759.1	7q31.1	2012-04-17	2011-10-04	2001-07-02	ENSG00000154415	ENSG00000154415	3.1.3.16	"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	9291	protein-coding gene	gene with protein product	"glycogen-associated regulatory subunit of protein phosphatase-1", "protein phosphatase 1 regulatory subunit GM"	600917	"protein phosphatase 1, regulatory (inhibitor) subunit 3A (glycogen and sarcoplasmic reticulum binding subunit, skeletal muscle)", "protein phosphatase 1, regulatory (inhibitor) subunit 3A"	PPP1R3		7926294	Standard	NM_002711		Approved	GM	uc010ljy.1	Q16821	OTTHUMG00000156944	ENST00000284601.3:c.2659G>T	7.37:g.113518488C>A	ENSP00000284601:p.Glu887*						p.E887*	NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN			4	2727	-			887					A0AVQ2|A4D0T6|O43476|Q75LN8|Q7KYM8|Q86UI6	Nonsense_Mutation	SNP	ENST00000284601.3	37	c.2659G>T	CCDS5759.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.028904	0.75504	.	.	ENSG00000154415	ENST00000284601	.	.	.	5.81	3.0	0.34707	.	0.509628	0.19051	N	0.124031	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-7.6972	7.241	0.26096	0.0:0.7121:0.1404:0.1475	.	.	.	.	X	887	.	ENSP00000284601:E887X	E	-	1	0	PPP1R3A	113305724	0.537000	0.26386	1.000000	0.80357	0.148000	0.21650	0.790000	0.26900	0.768000	0.33290	0.650000	0.86243	GAA		0.363	PPP1R3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346724.1	NM_002711		5	96	1	0	0.184627	1	0.184627	5	96					A	113518488	C	A	113518488	4	1	110	1	0	0	0	0	0	1	0	0	12371	922	32	5	713	5	PPP1R3A	7	113518488	Nonsense_Mutation	SNP	C	TCGA-EJ-8474-01A-11D-2395-08	21850693	113518488	45620175	37	6010											
OR2A14	135941	broad.mit.edu	37	chr7	143826812	143826812	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggtcatctttgcagcctgcGtgttcatcctggtggggcca	4	13	13	11	1	3	0	2	0	1	0	4	0	4	0	3	4	3	2	3	4	0	2	rs199919624		TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	ce43974e-70a9-4f22-9686-f0462c597acb	g.chr7:143826812G>A	ENST00000408899.2	+	1	662	c.607G>A	c.(607-609)Gtg>Atg	p.V203M		NM_001001659.1	NP_001001659.1	Q96R47	O2A14_HUMAN	olfactory receptor, family 2, subfamily A, member 14	203						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			large_intestine(4)|lung(17)|skin(1)	22	Melanoma(164;0.0783)					TGCAGCCTGCGTGTTCATCCT	0.577													G|||	1	0.000199681	0	0	5008	,	,		20177	0		0.001	False		,,,				2504	0					ENST00000408899.2																			0				large_intestine(4)|lung(17)|skin(1)	22						c.(607-609)Gtg>Atg		olfactory receptor, family 2, subfamily A, member 14							153	159	157					7																	143826812		2046	4198	6244	SO:0001583	missense	135941				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr7:143826812G>A		CCDS43672.1	7q35	2013-09-20		2004-03-08	ENSG00000221938	ENSG00000221938		"GPCR / Class A : Olfactory receptors"	15084	protein-coding gene	gene with protein product				OR2A14P, OR2A6			Standard	NM_001001659		Approved	OST182	uc011kua.2	Q96R47	OTTHUMG00000158003	ENST00000408899.2:c.607G>A	7.37:g.143826812G>A	ENSP00000386137:p.Val203Met						p.V203M	NM_001001659.1	NP_001001659.1	Q96R47	O2A14_HUMAN			1	662	+	Melanoma(164;0.0783)		203					Q6IF41|Q8NGT8	Missense_Mutation	SNP	ENST00000408899.2	37	c.607G>A	CCDS43672.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	1.265	-0.614712	0.03663	.	.	ENSG00000221938	ENST00000408899	T	0.41065	1.01	4.18	-0.71	0.11234	GPCR, rhodopsin-like superfamily (1);	0.308595	0.17550	U	0.170216	T	0.36193	0.0958	L	0.61387	1.9	0.09310	N	1	B	0.28082	0.2	B	0.34346	0.18	T	0.37865	-0.9687	10	0.62326	D	0.03	-15.1716	3.8812	0.09079	0.4317:0.0:0.405:0.1634	.	203	Q96R47	O2A14_HUMAN	M	203	ENSP00000386137:V203M	ENSP00000386137:V203M	V	+	1	0	OR2A14	143457745	0.000000	0.05858	0.019000	0.16419	0.001000	0.01503	-0.374000	0.07484	-0.054000	0.13266	-2.357000	0.00240	GTG		0.577	OR2A14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349980.1			41	356	0	0	0	1	0	41	356					A	143826812	G	A	143826812	3	1	110	1	0	0	0	0	1	0	0	0	10976	1145	40	1	609	1	OR2A14	7	143826812	Missense_Mutation	SNP	G	TCGA-EJ-8474-01A-11D-2395-08	30308324	143826812	15311851	38	6011											
INTS10	55174	broad.mit.edu	37	chr8	19682476	19682476	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aacagcatacagccatctctCttccaaggttggtttacaaa	13	11	6	11	0	2	0	0	0	2	0	4	0	3	0	2	2	5	3	2	2	5	5			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	ce43974e-70a9-4f22-9686-f0462c597acb	g.chr8:19682476C>T	ENST00000397977.3	+	8	1397	c.999C>T	c.(997-999)ctC>ctT	p.L333L		NM_018142.2	NP_060612.2	Q9NVR2	INT10_HUMAN	integrator complex subunit 10	333					snRNA processing (GO:0016180)	integrator complex (GO:0032039)				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	20				Colorectal(111;0.057)|COAD - Colon adenocarcinoma(73;0.215)		AGCCATCTCTCTTCCAAGGTT	0.398																																						ENST00000397977.3																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	20						c.(997-999)ctC>ctT		integrator complex subunit 10							88	82	84					8																	19682476		1905	4115	6020	SO:0001819	synonymous_variant	55174				snRNA processing	integrator complex	protein binding	g.chr8:19682476C>T	AK001431	CCDS6011.2	8p21.3	2006-04-26	2006-03-15	2006-03-15	ENSG00000104613	ENSG00000104613			25548	protein-coding gene	gene with protein product		611353	"chromosome 8 open reading frame 35"	C8orf35		16239144	Standard	XM_005273558		Approved	FLJ10569, INT10	uc003wzj.3	Q9NVR2	OTTHUMG00000131065	ENST00000397977.3:c.999C>T	8.37:g.19682476C>T							p.L333L	NM_018142.2	NP_060612.2	Q9NVR2	INT10_HUMAN		Colorectal(111;0.057)|COAD - Colon adenocarcinoma(73;0.215)	8	1397	+			333					Q6IA93|Q7L538|Q7L8C8|Q9H3W8	Silent	SNP	ENST00000397977.3	37	c.999C>T	CCDS6011.2	.	.	.	.	.	.	.	.	.	.	C	8.936	0.964609	0.18583	.	.	ENSG00000104613	ENST00000523846	.	.	.	5.82	1.95	0.26073	.	.	.	.	.	T	0.53302	0.1788	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.39722	-0.9600	4	.	.	.	-15.9663	5.585	0.17269	0.3042:0.5126:0.1163:0.0668	.	.	.	.	F	109	.	.	S	+	2	0	INTS10	19726756	0.285000	0.24296	0.999000	0.59377	0.918000	0.54935	-0.414000	0.07114	0.076000	0.16826	0.467000	0.42956	TCT		0.398	INTS10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253724.2	NM_018142		3	52	0	0	0	1	0	3	52					T	19682476	C	T	19682476	2	4	110	1	0	0	0	0	0	0	0	1	7776	900	32	3		3	INTS10	8	19682476	Silent	SNP	C	TCGA-EJ-8474-01A-11D-2395-08		19682476	126681546	39	6012											
WWP1	11059	broad.mit.edu	37	chr8	87423858	87423858	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gaaaatgccttgtctccaaaTtgcactagtactactgttga	12	13	7	9	0	1	1	0	1	1	0	2	2	1	1	2	0	4	3	2	0	6	6			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	ce43974e-70a9-4f22-9686-f0462c597acb	g.chr8:87423858T>G	ENST00000517970.1	+	9	1123	c.816T>G	c.(814-816)aaT>aaG	p.N272K	WWP1_ENST00000349423.2_Missense_Mutation_p.N54K|WWP1_ENST00000341922.2_Missense_Mutation_p.N142K|WWP1_ENST00000265428.4_Missense_Mutation_p.N272K	NM_007013.3	NP_008944.1	Q9H0M0	WWP1_HUMAN	WW domain containing E3 ubiquitin protein ligase 1	272					central nervous system development (GO:0007417)|ion transmembrane transport (GO:0034220)|negative regulation of transcription, DNA-templated (GO:0045892)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|signal transduction (GO:0007165)|transmembrane transport (GO:0055085)|viral entry into host cell (GO:0046718)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ubiquitin ligase complex (GO:0000151)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			endometrium(3)|kidney(2)|large_intestine(9)|liver(4)|lung(10)|prostate(2)|urinary_tract(1)	31						TGTCTCCAAATTGCACTAGTA	0.413																																						ENST00000517970.1																			0				endometrium(3)|kidney(2)|large_intestine(9)|liver(4)|lung(10)|prostate(2)|urinary_tract(1)	31						c.(814-816)aaT>aaG		WW domain containing E3 ubiquitin protein ligase 1							121	115	117					8																	87423858		2203	4300	6503	SO:0001583	missense	11059				central nervous system development|entry of virus into host cell|negative regulation of transcription, DNA-dependent|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|signal transduction	cytoplasm|nucleus|plasma membrane|ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity	g.chr8:87423858T>G	AY043361	CCDS6242.1	8q21.3	2013-07-22			ENSG00000123124	ENSG00000123124			17004	protein-coding gene	gene with protein product		602307				9169421, 9647693	Standard	NM_007013		Approved	AIP5, DKFZP434D2111	uc003ydt.3	Q9H0M0	OTTHUMG00000163690	ENST00000517970.1:c.816T>G	8.37:g.87423858T>G	ENSP00000427793:p.Asn272Lys					WWP1_ENST00000349423.2_Missense_Mutation_p.N54K|WWP1_ENST00000265428.4_Missense_Mutation_p.N272K|WWP1_ENST00000341922.2_Missense_Mutation_p.N142K	p.N272K	NM_007013.3	NP_008944.1	Q9H0M0	WWP1_HUMAN			9	1123	+			272					O00307|Q5YLC1|Q96BP4	Missense_Mutation	SNP	ENST00000517970.1	37	c.816T>G	CCDS6242.1	.	.	.	.	.	.	.	.	.	.	T	7.889	0.731831	0.15507	.	.	ENSG00000123124	ENST00000517970;ENST00000265428;ENST00000341922;ENST00000349423	T;T;T;T	0.42513	1.02;1.02;0.97;1.04	5.73	1.97	0.26223	.	1.366900	0.04829	N	0.438462	T	0.21267	0.0512	N	0.08118	0	0.26785	N	0.969525	B;B	0.15473	0.013;0.0	B;B	0.16289	0.015;0.0	T	0.23226	-1.0194	10	0.10377	T	0.69	.	4.7879	0.13234	0.0:0.2453:0.1502:0.6045	.	54;272	Q9H0M0-6;Q9H0M0	.;WWP1_HUMAN	K	272;272;142;54	ENSP00000427793:N272K;ENSP00000265428:N272K;ENSP00000340564:N142K;ENSP00000342665:N54K	ENSP00000265428:N272K	N	+	3	2	WWP1	87492974	1.000000	0.71417	0.069000	0.20011	0.976000	0.68499	1.784000	0.38674	0.097000	0.17492	0.528000	0.53228	AAT		0.413	WWP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374755.1	NM_007013		30	55	0	0	0	1	0	30	55					G	87423858	T	G	87423858	3	3	110	1	0	0	0	0	1	0	0	0	17412	1490	52	5	842	5	WWP1	8	87423858	Missense_Mutation	SNP	T	TCGA-EJ-8474-01A-11D-2395-08	67741382	87423858	58940164	40	6013											
MMP16	4325	broad.mit.edu	37	chr8	89180005	89180005	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gtgccaaaaatcctccctctCcatcaaagggagagctgtcc	11	8	8	14	0	2	1	1	0	1	1	6	2	5	1	5	1	2	1	5	1	3	0			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	ce43974e-70a9-4f22-9686-f0462c597acb	g.chr8:89180005C>T	ENST00000286614.6	-	4	883	c.602G>A	c.(601-603)gGa>gAa	p.G201E	MMP16_ENST00000544227.1_5'UTR	NM_005941.4	NP_005932.2	P51512	MMP16_HUMAN	matrix metallopeptidase 16 (membrane-inserted)	201					chondrocyte proliferation (GO:0035988)|collagen catabolic process (GO:0030574)|craniofacial suture morphogenesis (GO:0097094)|embryonic cranial skeleton morphogenesis (GO:0048701)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of catalytic activity (GO:0043085)	Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|enzyme activator activity (GO:0008047)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(51)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	81					Marimastat(DB00786)	TCCTCCCTCTCCATCAAAGGG	0.443																																						ENST00000286614.6																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(51)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	81						c.(601-603)gGa>gAa		matrix metallopeptidase 16 (membrane-inserted)							91	80	84					8																	89180005		2203	4300	6503	SO:0001583	missense	4325				collagen catabolic process|proteolysis	cell surface|integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding	g.chr8:89180005C>T	D85511	CCDS6246.1	8q21	2009-01-09	2005-08-08		ENSG00000156103	ENSG00000156103			7162	protein-coding gene	gene with protein product		602262	"matrix metalloproteinase 16 (membrane-inserted)", "chromosome 8 open reading frame 57"	C8orf57		7559440	Standard	NM_005941		Approved	MT3-MMP, DKFZp761D112	uc003yeb.4	P51512	OTTHUMG00000163769	ENST00000286614.6:c.602G>A	8.37:g.89180005C>T	ENSP00000286614:p.Gly201Glu					MMP16_ENST00000544227.1_5'UTR	p.G201E	NM_005941.4	NP_005932.2	P51512	MMP16_HUMAN			4	883	-			201					B2RAN7|Q14824|Q52H48	Missense_Mutation	SNP	ENST00000286614.6	37	c.602G>A	CCDS6246.1	.	.	.	.	.	.	.	.	.	.	C	32	5.172264	0.94807	.	.	ENSG00000156103	ENST00000286614	T	0.27557	1.66	5.5	5.5	0.81552	Peptidase M10, metallopeptidase (1);Peptidase, metallopeptidase (1);Metallopeptidase, catalytic domain (1);	0.096958	0.64402	D	0.000001	T	0.72170	0.3427	H	0.97240	3.965	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.82946	-0.0205	10	0.87932	D	0	.	19.4741	0.94979	0.0:1.0:0.0:0.0	.	201;201	P51512-2;P51512	.;MMP16_HUMAN	E	201	ENSP00000286614:G201E	ENSP00000286614:G201E	G	-	2	0	MMP16	89249121	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.751000	0.85126	2.602000	0.87976	0.644000	0.83932	GGA		0.443	MMP16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375304.2	NM_005941		36	75	0	0	0	1	0	36	75					T	89180005	C	T	89180005	3	4	110	1	0	0	0	0	1	0	0	0	9655	855	30	3	1405	3	MMP16	8	89180005	Missense_Mutation	SNP	C	TCGA-EJ-8474-01A-11D-2395-08	1756147	89180005	57184017	41	6014											
TG	7038	broad.mit.edu	37	chr8	133925308	133925308	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acagagagagccttggtgggCaaggatctccttgggcgctt	8	9	15	9	1	1	2	0	0	1	2	2	4	1	3	2	4	1	2	2	4	1	3			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	ce43974e-70a9-4f22-9686-f0462c597acb	g.chr8:133925308C>T	ENST00000220616.4	+	20	4216	c.4176C>T	c.(4174-4176)ggC>ggT	p.G1392G	TG_ENST00000377869.1_Silent_p.G1392G	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	1392					hormone biosynthetic process (GO:0042446)|iodide transport (GO:0015705)|regulation of myelination (GO:0031641)|signal transduction (GO:0007165)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular region (GO:0005576)|extracellular space (GO:0005615)				NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		CCTTGGTGGGCAAGGATCTCC	0.557																																						ENST00000220616.4																			0				NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168						c.(4174-4176)ggC>ggT		thyroglobulin							87	76	80					8																	133925308		2203	4300	6503	SO:0001819	synonymous_variant	7038				hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity	g.chr8:133925308C>T	AU141420	CCDS34944.1	8q24	2012-10-02			ENSG00000042832	ENSG00000042832			11764	protein-coding gene	gene with protein product		188450					Standard	NM_003235		Approved	TGN, AITD3	uc003ytw.3	P01266	OTTHUMG00000164649	ENST00000220616.4:c.4176C>T	8.37:g.133925308C>T						TG_ENST00000377869.1_Silent_p.G1392G	p.G1392G	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)	20	4216	+	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	1392					O15274|O43899|Q15593|Q15948|Q9NYR1|Q9NYR2|Q9UMZ0|Q9UNY3	Silent	SNP	ENST00000220616.4	37	c.4176C>T	CCDS34944.1																																																																																				0.557	TG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379606.1	NM_003235		27	43	0	0	0	1	0	27	43					T	133925308	C	T	133925308	2	4	110	1	0	0	0	0	0	0	0	1	15810	697	25	3		3	TG	8	133925308	Silent	SNP	C	TCGA-EJ-8474-01A-11D-2395-08	44745303	133925308	12438714	42	6015											
ARHGAP39	80728	broad.mit.edu	37	chr8	145773444	145773444	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggcgaccgctggggagagccGgcctggtagcccccgccagc	5	3	17	16	4	0	1	0	0	0	1	0	3	0	1	6	5	3	2	6	5	1	1			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	ce43974e-70a9-4f22-9686-f0462c597acb	g.chr8:145773444G>A	ENST00000276826.5	-	4	1227	c.1026C>T	c.(1024-1026)gcC>gcT	p.A342A	ARHGAP39_ENST00000377307.2_Silent_p.A342A|ARHGAP39_ENST00000528810.1_5'Flank|ARHGAP39_ENST00000540274.1_Silent_p.A342A			Q9C0H5	RHG39_HUMAN	Rho GTPase activating protein 39	342	Pro-rich.				axon guidance (GO:0007411)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nucleus (GO:0005634)				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22						GGGGAGAGCCGGCCTGGTAGC	0.706																																						ENST00000276826.5																			0				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22						c.(1024-1026)gcC>gcT		Rho GTPase activating protein 39							14	17	16					8																	145773444		2078	4114	6192	SO:0001819	synonymous_variant	80728				axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|nucleus	GTPase activator activity	g.chr8:145773444G>A		CCDS34971.1	8q24.3	2011-06-29			ENSG00000147799	ENSG00000147799		"Rho GTPase activating proteins"	29351	protein-coding gene	gene with protein product	"RhoGAP93B homolog (Drosophila)", "crossGAP homolog (Drosophila)"	615880				15755809	Standard	XM_005272344		Approved	KIAA1688, Vilse, CrGAP	uc003zds.1	Q9C0H5	OTTHUMG00000165182	ENST00000276826.5:c.1026C>T	8.37:g.145773444G>A						ARHGAP39_ENST00000540274.1_Silent_p.A342A|ARHGAP39_ENST00000377307.2_Silent_p.A342A	p.A342A			Q9C0H5	RHG39_HUMAN			4	1227	-			342			Pro-rich.		B4E1I1	Silent	SNP	ENST00000276826.5	37	c.1026C>T																																																																																					0.706	ARHGAP39-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000382509.1			7	63	0	0	0	1	0	7	63					A	145773444	G	A	145773444	2	1	110	1	0	0	0	0	0	0	0	1	884	1103	39	2		2	ARHGAP39	8	145773444	Silent	SNP	G	TCGA-EJ-8474-01A-11D-2395-08	11848136	145773444	590578	43	6016											
ANXA11	311	broad.mit.edu	37	chr10	81917453	81917453	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cttatactctgatctgatgtCcaggaggtcggtctcgctgc	6	13	11	11	2	3	2	0	2	3	0	6	3	4	3	1	3	2	1	1	3	2	2			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	ce43974e-70a9-4f22-9686-f0462c597acb	g.chr10:81917453C>A	ENST00000438331.1	-	16	1884	c.1402G>T	c.(1402-1404)Gac>Tac	p.D468Y	ANXA11_ENST00000535999.1_Missense_Mutation_p.D468Y|ANXA11_ENST00000360615.4_Missense_Mutation_p.D468Y|ANXA11_ENST00000265447.4_Missense_Mutation_p.D468Y|ANXA11_ENST00000372231.3_Missense_Mutation_p.D468Y|ANXA11_ENST00000537102.1_Missense_Mutation_p.D435Y|ANXA11_ENST00000422982.3_Missense_Mutation_p.D468Y	NM_145869.1	NP_665876.1	P50995	ANX11_HUMAN	annexin A11	468					cytokinesis, completion of separation (GO:0007109)|phagocytosis (GO:0006909)|response to calcium ion (GO:0051592)	azurophil granule (GO:0042582)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|midbody (GO:0030496)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|phagocytic vesicle (GO:0045335)|specific granule (GO:0042581)|spindle (GO:0005819)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|calcium-dependent protein binding (GO:0048306)|MHC class II protein complex binding (GO:0023026)|phosphatidylethanolamine binding (GO:0008429)|poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)			endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|urinary_tract(1)	17	Prostate(51;0.00985)|all_epithelial(25;0.0951)		Colorectal(32;0.109)			GATCTGATGTCCAGGAGGTCG	0.577																																						ENST00000438331.1																			0				endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|urinary_tract(1)	17						c.(1402-1404)Gac>Tac		annexin A11							142	125	131					10																	81917453		2203	4300	6503	SO:0001583	missense	311				cell cycle|cytokinesis, completion of separation|phagocytosis|response to calcium ion	azurophil granule|melanosome|midbody|nuclear envelope|nucleoplasm|phagocytic vesicle|specific granule|spindle	calcium-dependent phospholipid binding|calcium-dependent protein binding|S100 alpha binding	g.chr10:81917453C>A	L19605	CCDS7364.1, CCDS60576.1	10q22.3	2005-11-09			ENSG00000122359	ENSG00000122359		"Annexins"	535	protein-coding gene	gene with protein product		602572		ANX11		7508441, 9503022	Standard	NM_001157		Approved		uc001kbt.1	P50995	OTTHUMG00000018604	ENST00000438331.1:c.1402G>T	10.37:g.81917453C>A	ENSP00000398610:p.Asp468Tyr					ANXA11_ENST00000265447.4_Missense_Mutation_p.D468Y|ANXA11_ENST00000372231.3_Missense_Mutation_p.D468Y|ANXA11_ENST00000360615.4_Missense_Mutation_p.D468Y|ANXA11_ENST00000535999.1_Missense_Mutation_p.D468Y|ANXA11_ENST00000422982.3_Missense_Mutation_p.D468Y|ANXA11_ENST00000537102.1_Missense_Mutation_p.D435Y	p.D468Y	NM_145869.1	NP_665876.1	P50995	ANX11_HUMAN	Colorectal(32;0.109)		16	1884	-	Prostate(51;0.00985)|all_epithelial(25;0.0951)		468					B4DVE7	Missense_Mutation	SNP	ENST00000438331.1	37	c.1402G>T	CCDS7364.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	26.5|26.5	4.741048|4.741048	0.89573|0.89573	.|.	.|.	ENSG00000122359|ENSG00000122359	ENST00000372231;ENST00000422982;ENST00000438331;ENST00000372234;ENST00000360615;ENST00000265447;ENST00000535999;ENST00000424188;ENST00000537102;ENST00000372219|ENST00000447489	T;T;T;T;T;T;T|.	0.03468|.	3.92;3.92;3.92;3.92;3.92;3.92;3.92|.	5.16|5.16	5.16|5.16	0.70880|0.70880	Annexin repeat, conserved site (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.76335|0.76335	0.3973|0.3973	M|M	0.78049|0.78049	2.395|2.395	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	0.998;1.0;1.0|.	P;D;D|.	0.83275|.	0.843;0.996;0.996|.	T|T	0.76990|0.76990	-0.2754|-0.2754	10|5	0.66056|.	D|.	0.02|.	.|.	16.5377|16.5377	0.84377|0.84377	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	568;468;468|.	B7Z6L0;Q5T0G8;P50995|.	.;.;ANX11_HUMAN|.	Y|C	468;468;468;468;468;468;468;375;435;115|100	ENSP00000361305:D468Y;ENSP00000404412:D468Y;ENSP00000398610:D468Y;ENSP00000353827:D468Y;ENSP00000265447:D468Y;ENSP00000441748:D468Y;ENSP00000441400:D435Y|.	ENSP00000265447:D468Y|.	D|W	-|-	1|3	0|0	ANXA11|ANXA11	81907433|81907433	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.864000|0.864000	0.49448|0.49448	7.361000|7.361000	0.79497|0.79497	2.575000|2.575000	0.86900|0.86900	0.561000|0.561000	0.74099|0.74099	GAC|TGG		0.577	ANXA11-003	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049044.1	NM_145869		7	93	1	0	0.0293803	1	0.030019	7	93					A	81917453	C	A	81917453	3	1	110	1	0	0	0	0	1	0	0	0	716	855	30	5	123	5	ANXA11	10	81917453	Missense_Mutation	SNP	C	TCGA-EJ-8474-01A-11D-2395-08		81917453	53617294	44	6017											
TRIM5	85363	broad.mit.edu	37	chr11	5686409	5686409	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcacatacccccaggatcCaagcagttttcttggacacg	11	8	8	14	1	1	0	0	0	1	0	2	2	2	2	3	2	3	3	3	2	2	4			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	ce43974e-70a9-4f22-9686-f0462c597acb	g.chr11:5686409C>T	ENST00000380034.3	-	8	1368	c.1112G>A	c.(1111-1113)tGg>tAg	p.W371*	TRIM5_ENST00000380027.1_Intron|TRIM5_ENST00000396855.3_Intron|TRIM5_ENST00000396847.3_3'UTR|TRIM5_ENST00000305836.5_Nonsense_Mutation_p.W371*|TRIM5_ENST00000483835.1_5'UTR|TRIM5_ENST00000396853.4_Intron	NM_033034.2|NM_033092.2	NP_149023.2|NP_149083.2	Q9C035	TRIM5_HUMAN	tripartite motif containing 5	371	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				activation of innate immune response (GO:0002218)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of viral entry into host cell (GO:0046597)|negative regulation of viral release from host cell (GO:1902187)|pattern recognition receptor signaling pathway (GO:0002221)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein K63-linked ubiquitination (GO:0070534)|protein trimerization (GO:0070206)|regulation of lipopolysaccharide-mediated signaling pathway (GO:0031664)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	identical protein binding (GO:0042802)|ligase activity (GO:0016874)|protein homodimerization activity (GO:0042803)|signaling pattern recognition receptor activity (GO:0008329)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)|Lung NSC(207;0.138)|all_lung(207;0.221)		Epithelial(150;7.21e-09)|BRCA - Breast invasive adenocarcinoma(625;0.139)		CCCCAGGATCCAAGCAGTTTT	0.403																																						ENST00000305836.5																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21						c.(1111-1113)tGg>tAg		tripartite motif containing 5							113	112	112					11																	5686409		2201	4297	6498	SO:0001587	stop_gained	85363				interspecies interaction between organisms|protein trimerization|response to virus	cytoplasm|cytoplasmic mRNA processing body	ligase activity|protein binding|protein homodimerization activity|zinc ion binding	g.chr11:5686409C>T	AF220025	CCDS31392.1, CCDS31393.1, CCDS31394.1	11p15	2014-06-03	2011-01-25		ENSG00000132256	ENSG00000132256		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	16276	protein-coding gene	gene with protein product	"tripartite motif protein TRIM5", "tripartite motif protein TRIM"	608487	"tripartite motif-containing 5"			11331580	Standard	NM_033034		Approved	RNF88, TRIM5alpha	uc001mbm.2	Q9C035	OTTHUMG00000066893	ENST00000380034.3:c.1112G>A	11.37:g.5686409C>T	ENSP00000369373:p.Trp371*					TRIM5_ENST00000483835.1_5'UTR|TRIM5_ENST00000396847.3_3'UTR|TRIM5_ENST00000396853.4_Intron|TRIM5_ENST00000396855.3_Intron|TRIM5_ENST00000380034.3_Nonsense_Mutation_p.W371*|TRIM5_ENST00000380027.1_Intron	p.W371*			Q9C035	TRIM5_HUMAN		Epithelial(150;7.21e-09)|BRCA - Breast invasive adenocarcinoma(625;0.139)	8	1414	-		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)|Lung NSC(207;0.138)|all_lung(207;0.221)	371			B30.2/SPRY.		A6NGQ1|A8WFA8|D3DQS8|D3DQS9|G3GJY1|Q2MLV4|Q2MLV8|Q2MLV9|Q2MLW1|Q2MLW3|Q2MLW4|Q2MLW6|Q2MLW7|Q2MLX1|Q2MLX2|Q2MLX3|Q2MLX5|Q2MLY3|Q2MLY4|Q2V6Q6|Q6GX26|Q8WU46|Q96SR5|Q9C031|Q9C032|Q9C033|Q9C034	Nonsense_Mutation	SNP	ENST00000380034.3	37	c.1112G>A	CCDS31393.1	.	.	.	.	.	.	.	.	.	.	C	34	5.355516	0.95854	.	.	ENSG00000132256	ENST00000305836;ENST00000380034	.	.	.	3.71	3.71	0.42584	.	0.000000	0.43579	D	0.000553	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.2557	0.49052	0.0:1.0:0.0:0.0	.	.	.	.	X	371	.	ENSP00000307031:W371X	W	-	2	0	TRIM5	5642985	1.000000	0.71417	0.489000	0.27452	0.125000	0.20455	4.827000	0.62723	2.374000	0.81015	0.655000	0.94253	TGG		0.403	TRIM5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000143360.3	NM_033034		7	210	0	0	0	1	0	7	210					T	5686409	C	T	5686409	4	4	110	1	0	0	0	0	0	1	0	0	16522	595	21	3	463	3	TRIM5	11	5686409	Nonsense_Mutation	SNP	C	TCGA-EJ-8474-01A-11D-2395-08		5686409	129320107	45	6018											
OR56A1	120796	broad.mit.edu	37	chr11	6048227	6048227	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttcactgccgccccctctgcTttgaatctaagcacagctct	7	12	6	16	1	4	1	1	1	3	0	4	1	4	1	3	0	4	3	3	0	2	3			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	ce43974e-70a9-4f22-9686-f0462c597acb	g.chr11:6048227T>C	ENST00000316650.5	-	1	744	c.708A>G	c.(706-708)aaA>aaG	p.K236K		NM_001001917.2	NP_001001917.2	Q8NGH5	O56A1_HUMAN	olfactory receptor, family 56, subfamily A, member 1	236						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(22)|ovary(2)	33		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CCCCCTCTGCTTTGAATCTAA	0.488																																						ENST00000316650.5																			0				breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(22)|ovary(2)	33						c.(706-708)aaA>aaG		olfactory receptor, family 56, subfamily A, member 1							45	45	45					11																	6048227		2201	4296	6497	SO:0001819	synonymous_variant	120796				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:6048227T>C	AB065821	CCDS31405.1	11p15.4	2012-08-09			ENSG00000180934	ENSG00000180934		"GPCR / Class A : Olfactory receptors"	14781	protein-coding gene	gene with protein product							Standard	NM_001001917		Approved		uc010qzw.2	Q8NGH5	OTTHUMG00000165377	ENST00000316650.5:c.708A>G	11.37:g.6048227T>C							p.K236K	NM_001001917.2	NP_001001917.2	Q8NGH5	O56A1_HUMAN		Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	744	-		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)	236					B2RNI2|Q6IFL0	Silent	SNP	ENST00000316650.5	37	c.708A>G	CCDS31405.1																																																																																				0.488	OR56A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383757.1	NM_001001917		37	51	0	0	0	1	0	37	51					C	6048227	T	C	6048227	2	2	110	1	0	0	0	0	0	0	0	1	11133	1606	56	4		4	OR56A1	11	6048227	Silent	SNP	T	TCGA-EJ-8474-01A-11D-2395-08	361818	6048227	128958289	46	6019											
MUC15	143662	broad.mit.edu	37	chr11	26586841	26586841	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	actgtttgtggtaagccatcCacttggttccactatcaagg	9	13	9	10	0	1	0	1	0	0	0	3	0	3	0	3	3	1	3	3	3	3	5			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	ce43974e-70a9-4f22-9686-f0462c597acb	g.chr11:26586841C>T	ENST00000455601.2	-	2	683	c.565G>A	c.(565-567)Gga>Aga	p.G189R	MUC15_ENST00000436318.2_Missense_Mutation_p.G216R|MUC15_ENST00000527569.1_Missense_Mutation_p.G216R|ANO3_ENST00000525139.1_Intron|ANO3_ENST00000537978.1_Intron|ANO3_ENST00000531568.1_Intron|MUC15_ENST00000529533.1_Missense_Mutation_p.G216R|MUC15_ENST00000281268.8_Missense_Mutation_p.G216R|ANO3_ENST00000256737.3_Intron	NM_145650.3	NP_663625.2	Q8N387	MUC15_HUMAN	mucin 15, cell surface associated	189					cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	25						GTAAGCCATCCACTTGGTTCC	0.413																																						ENST00000436318.2																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	25						c.(646-648)Gga>Aga		mucin 15, cell surface associated							128	124	126					11																	26586841		2203	4300	6503	SO:0001583	missense	143662					extracellular region|integral to membrane|plasma membrane		g.chr11:26586841C>T	AJ417818	CCDS7859.1, CCDS44556.1, CCDS44557.1	11p14.3	2007-01-17	2006-03-14					"Mucins"	14956	protein-coding gene	gene with protein product		608566				12047385	Standard	NM_145650		Approved		uc001mqw.3	Q8N387		ENST00000455601.2:c.565G>A	11.37:g.26586841C>T	ENSP00000397339:p.Gly189Arg					MUC15_ENST00000527569.1_Missense_Mutation_p.G216R|ANO3_ENST00000256737.3_Intron|MUC15_ENST00000455601.2_Missense_Mutation_p.G189R|ANO3_ENST00000525139.1_Intron|ANO3_ENST00000531568.1_Intron|ANO3_ENST00000537978.1_Intron|MUC15_ENST00000281268.8_Missense_Mutation_p.G216R|MUC15_ENST00000529533.1_Missense_Mutation_p.G216R	p.G216R			Q8N387	MUC15_HUMAN			2	779	-			189					B3KY00|E9PII6|F8W945|Q6UWS3|Q8IXI8|Q8WW41	Missense_Mutation	SNP	ENST00000455601.2	37	c.646G>A	CCDS7859.1	.	.	.	.	.	.	.	.	.	.	C	10.58	1.390849	0.25118	.	.	ENSG00000169550	ENST00000455601;ENST00000436318;ENST00000281268;ENST00000529533;ENST00000527569	T;T;T;T;T	0.29917	1.67;1.63;1.55;1.63;1.55	4.46	1.35	0.21983	.	1.705140	0.03458	N	0.211773	T	0.20129	0.0484	L	0.38175	1.15	0.09310	N	1	B;B;B	0.32031	0.352;0.037;0.037	B;B;B	0.29176	0.099;0.012;0.012	T	0.12192	-1.0557	10	0.05721	T	0.95	-6.1003	4.6553	0.12615	0.0:0.6:0.1796:0.2204	.	216;189;216	F8W945;Q8N387;E9PII6	.;MUC15_HUMAN;.	R	189;216;216;216;216	ENSP00000397339:G189R;ENSP00000416753:G216R;ENSP00000281268:G216R;ENSP00000431983:G216R;ENSP00000431945:G216R	ENSP00000281268:G216R	G	-	1	0	MUC15	26543417	0.000000	0.05858	0.000000	0.03702	0.096000	0.18686	0.162000	0.16501	0.159000	0.19401	0.650000	0.86243	GGA		0.413	MUC15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387866.1	NM_145650		7	107	0	0	0	1	0	7	107					T	26586841	C	T	26586841	3	4	110	1	0	0	0	0	1	0	0	0	9972	603	21	3	451	3	MUC15	11	26586841	Missense_Mutation	SNP	C	TCGA-EJ-8474-01A-11D-2395-08	20538614	26586841	108419675	47	6020											
SLC5A12	159963	broad.mit.edu	37	chr11	26702725	26702725	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaaggccccaatggccaccCaaaatgacaaggtgattcca	14	6	9	12	0	0	3	0	3	0	0	1	3	1	3	5	3	0	0	5	3	5	1			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	ce43974e-70a9-4f22-9686-f0462c597acb	g.chr11:26702725C>A	ENST00000396005.3	-	12	1661	c.1352G>T	c.(1351-1353)tGg>tTg	p.W451L		NM_178498.3	NP_848593.2	Q1EHB4	SC5AC_HUMAN	solute carrier family 5 (sodium/monocarboxylate cotransporter), member 12	451					sodium ion transport (GO:0006814)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	symporter activity (GO:0015293)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)	35						AATGGCCACCCAAAATGACAA	0.448																																						ENST00000396005.3																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)	35						c.(1351-1353)tGg>tTg		solute carrier family 5 (sodium/monocarboxylate cotransporter), member 12							65	62	63					11																	26702725		1894	4108	6002	SO:0001583	missense	159963				sodium ion transport	apical plasma membrane|integral to membrane	symporter activity	g.chr11:26702725C>A	BC049207	CCDS7860.2	11p14.2	2013-07-19	2013-07-19		ENSG00000148942	ENSG00000148942		"Solute carriers"	28750	protein-coding gene	gene with protein product		612455	"solute carrier family 5 (sodium/glucose cotransporter), member 12"			12477932	Standard	NM_178498		Approved	MGC52019, SMCT2	uc001mra.2	Q1EHB4	OTTHUMG00000150706	ENST00000396005.3:c.1352G>T	11.37:g.26702725C>A	ENSP00000379326:p.Trp451Leu						p.W451L	NM_178498.3	NP_848593.2	Q1EHB4	SC5AC_HUMAN			12	1661	-			451					Q86UC7	Missense_Mutation	SNP	ENST00000396005.3	37	c.1352G>T	CCDS7860.2	.	.	.	.	.	.	.	.	.	.	C	26.7	4.765467	0.90020	.	.	ENSG00000148942	ENST00000396005	D	0.87809	-2.3	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	D	0.94407	0.8201	M	0.86573	2.825	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	D	0.95022	0.8161	10	0.87932	D	0	.	18.1964	0.89823	0.0:1.0:0.0:0.0	.	451	Q1EHB4	SC5AC_HUMAN	L	451	ENSP00000379326:W451L	ENSP00000379326:W451L	W	-	2	0	SLC5A12	26659301	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.863000	0.69568	2.590000	0.87494	0.655000	0.94253	TGG		0.448	SLC5A12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319681.1	NM_178498		3	35	1	0	0.004672	1	0.00482602	3	35					A	26702725	C	A	26702725	3	1	110	1	0	0	0	0	1	0	0	0	14664	595	21	5	520	5	SLC5A12	11	26702725	Missense_Mutation	SNP	C	TCGA-EJ-8474-01A-11D-2395-08	115884	26702725	108303791	48	6021											
C11orf41	25758	broad.mit.edu	37	chr11	33581376	33581376	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcacattcctcaacggcaccGtcgccagcagcctcctcagc	8	6	8	19	3	2	0	2	0	0	0	5	0	4	0	5	1	4	3	5	1	1	1			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	ce43974e-70a9-4f22-9686-f0462c597acb	g.chr11:33581376G>A	ENST00000321505.4	+	6	3226	c.3046G>A	c.(3046-3048)Gtc>Atc	p.V1016I	KIAA1549L_ENST00000265654.5_Missense_Mutation_p.V1022I|KIAA1549L_ENST00000389726.3_Missense_Mutation_p.V1022I			Q6ZVL6	K154L_HUMAN	KIAA1549-like	1016						integral component of membrane (GO:0016021)											CAACGGCACCGTCGCCAGCAG	0.567																																						ENST00000321505.4																			0											c.(3046-3048)Gtc>Atc		KIAA1549-like							108	113	111					11																	33581376		2145	4243	6388	SO:0001583	missense	25758							g.chr11:33581376G>A	U10991	CCDS44565.1, CCDS44565.2	11p13	2012-08-09	2012-08-09	2012-08-09	ENSG00000110427	ENSG00000110427			24836	protein-coding gene	gene with protein product		612297	"chromosome 11 open reading frame 69", "chromosome 11 open reading frame 41"	C11orf69, C11orf41			Standard	NM_012194		Approved	G2, MGC34830	uc021qfs.1	Q6ZVL6	OTTHUMG00000150410	ENST00000321505.4:c.3046G>A	11.37:g.33581376G>A	ENSP00000315295:p.Val1016Ile					KIAA1549L_ENST00000389726.3_Missense_Mutation_p.V1022I|KIAA1549L_ENST00000265654.5_Missense_Mutation_p.V1022I	p.V1016I							6	3226	+								B0QYU0	Missense_Mutation	SNP	ENST00000321505.4	37	c.3046G>A	CCDS44565.2	.	.	.	.	.	.	.	.	.	.	G	11.78	1.741681	0.30865	.	.	ENSG00000110427	ENST00000321505;ENST00000389726;ENST00000265654;ENST00000536568	.	.	.	5.41	4.48	0.54585	.	0.382410	0.29073	N	0.013222	T	0.23766	0.0575	L	0.33485	1.01	0.09310	N	1	P;P	0.44986	0.847;0.484	B;B	0.37451	0.25;0.108	T	0.09207	-1.0685	9	0.23302	T	0.38	-12.4527	10.2632	0.43438	0.2121:0.0:0.7879:0.0	.	1022;1022	E9PAT2;Q6ZVL6-2	.;.	I	1016;1022;1022;855	.	ENSP00000265654:V1022I	V	+	1	0	C11orf41	33537952	0.339000	0.24784	0.054000	0.19295	0.858000	0.48976	1.605000	0.36815	1.396000	0.46663	0.567000	0.79289	GTC		0.567	KIAA1549L-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317998.1	NM_012194		15	219	0	0	0	1	0	15	219					A	33581376	G	A	33581376	3	1	110	1	0	0	0	0	1	0	0	0	1640	1145	40	1	3086	1	C11orf41	11	33581376	Missense_Mutation	SNP	G	TCGA-EJ-8474-01A-11D-2395-08	6878651	33581376	101425140	49	6022											
CAPRIN2	65981	broad.mit.edu	37	chr12	30867973	30867973	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctctaacagatccccggctaTtgacaaatggctgagtaggt	11	10	10	10	1	1	3	0	2	1	1	2	3	2	3	2	3	1	3	2	3	4	4	rs534484327		TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	ce43974e-70a9-4f22-9686-f0462c597acb	g.chr12:30867973T>A	ENST00000395805.2	-	14	2949	c.2402A>T	c.(2401-2403)aAt>aTt	p.N801I	CAPRIN2_ENST00000298892.5_Missense_Mutation_p.N807I|CAPRIN2_ENST00000308433.5_Missense_Mutation_p.N523I|CAPRIN2_ENST00000417045.1_Missense_Mutation_p.N856I|CAPRIN2_ENST00000251071.5_Missense_Mutation_p.N857I	NM_001206856.1	NP_001193785.1			caprin family member 2											breast(1)|central_nervous_system(1)|endometrium(8)|kidney(4)|large_intestine(13)|lung(16)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	48	all_lung(12;1.13e-09)|Lung NSC(12;7.98e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)					TCCCCGGCTATTGACAAATGG	0.438																																						ENST00000251071.5																			0				breast(1)|central_nervous_system(1)|endometrium(8)|kidney(4)|large_intestine(13)|lung(16)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	48						c.(2569-2571)aAt>aTt		caprin family member 2							142	134	137					12																	30867973		2203	4300	6503	SO:0001583	missense	65981				negative regulation of cell growth|negative regulation of translation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of dendrite morphogenesis|positive regulation of dendritic spine morphogenesis|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein binding|positive regulation of transcription from RNA polymerase II promoter	mitochondrion|receptor complex	receptor binding|RNA binding	g.chr12:30867973T>A	AY074491	CCDS8720.1, CCDS41766.1, CCDS41766.2, CCDS55816.1	12p11	2010-08-03	2007-03-27	2007-03-27	ENSG00000110888	ENSG00000110888			21259	protein-coding gene	gene with protein product		610375	"C1q domain containing 1"	C1QDC1		11347906, 14764709	Standard	NM_001002259		Approved	EEG1, FLJ22569, FLJ11391, caprin-2, RNG140	uc001rji.1	Q6IMN6	OTTHUMG00000169185	ENST00000395805.2:c.2402A>T	12.37:g.30867973T>A	ENSP00000379150:p.Asn801Ile					CAPRIN2_ENST00000298892.5_Missense_Mutation_p.N807I|CAPRIN2_ENST00000417045.1_Missense_Mutation_p.N856I|CAPRIN2_ENST00000308433.5_Missense_Mutation_p.N523I|CAPRIN2_ENST00000395805.2_Missense_Mutation_p.N801I	p.N857I	NM_001002259.1|NM_032156.3	NP_001002259.1|NP_115532.3	Q6IMN6	CAPR2_HUMAN			15	3320	-	all_lung(12;1.13e-09)|Lung NSC(12;7.98e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)		857						Missense_Mutation	SNP	ENST00000395805.2	37	c.2570A>T	CCDS55816.1	.	.	.	.	.	.	.	.	.	.	T	14.88	2.668702	0.47677	.	.	ENSG00000110888	ENST00000433722;ENST00000298892;ENST00000395805;ENST00000251071;ENST00000308433;ENST00000417045	T;T;T;T;T;T	0.26067	1.76;1.76;1.76;1.76;1.76;1.76	5.54	-5.33	0.02713	.	0.744650	0.13375	N	0.392571	T	0.21550	0.0519	L	0.47190	1.495	0.18873	N	0.999982	P;P;P;B;P	0.45715	0.642;0.865;0.551;0.435;0.551	B;B;B;B;B	0.42882	0.25;0.401;0.239;0.116;0.239	T	0.19257	-1.0311	10	0.87932	D	0	-0.3039	11.7206	0.51680	0.0:0.5909:0.1056:0.3036	.	801;856;857;807;856	Q149P6;Q6IMN6-3;Q6IMN6;Q6IMN6-2;E4NKG2	.;.;CAPR2_HUMAN;.;.	I	602;807;801;857;523;856	ENSP00000415407:N602I;ENSP00000298892:N807I;ENSP00000379150:N801I;ENSP00000251071:N857I;ENSP00000309785:N523I;ENSP00000391479:N856I	ENSP00000251071:N857I	N	-	2	0	CAPRIN2	30759240	0.018000	0.18449	0.042000	0.18584	0.966000	0.64601	-0.387000	0.07361	-0.916000	0.03818	0.533000	0.62120	AAT		0.438	CAPRIN2-004	PUTATIVE	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000403322.2	NM_023925		4	135	0	0	0	1	0	4	135					A	30867973	T	A	30867973	3	1	110	1	0	0	0	0	1	0	0	0	2636	1493	52	5	829	5	CAPRIN2	12	30867973	Missense_Mutation	SNP	T	TCGA-EJ-8474-01A-11D-2395-08		30867973	102983922	50	6023											
ABCC4	10257	broad.mit.edu	37	chr13	95862991	95862991	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gacagcagattgactatctgGcctgtggttgtcttccccat	7	13	10	11	0	2	2	0	1	2	1	3	3	3	2	3	2	1	2	3	2	1	4			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	ce43974e-70a9-4f22-9686-f0462c597acb	g.chr13:95862991G>C	ENST00000376887.4	-	5	690	c.576C>G	c.(574-576)ggC>ggG	p.G192G	ABCC4_ENST00000412704.1_Silent_p.G192G|ABCC4_ENST00000536256.1_Silent_p.G117G|ABCC4_ENST00000431522.1_Silent_p.G192G|snoU13_ENST00000459449.1_RNA|ABCC4_ENST00000538287.1_3'UTR	NM_005845.3	NP_005836.2	O15439	MRP4_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 4	192	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				blood coagulation (GO:0007596)|oxidation-reduction process (GO:0055114)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of smooth muscle cell proliferation (GO:0048661)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|response to organonitrogen compound (GO:0010243)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet dense granule membrane (GO:0031088)	15-hydroxyprostaglandin dehydrogenase (NAD+) activity (GO:0016404)|ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43	all_neural(89;0.0878)|Medulloblastoma(90;0.163)				Adefovir Dipivoxil(DB00718)|Alprostadil(DB00770)|Atorvastatin(DB01076)|Cefazolin(DB01327)|Celecoxib(DB00482)|Conjugated Estrogens(DB00286)|Diclofenac(DB00586)|Dinoprostone(DB00917)|Dipyridamole(DB00975)|Fluorouracil(DB00544)|Flurbiprofen(DB00712)|Folic Acid(DB00158)|Gadoxetate(DB08884)|Glutathione(DB00143)|Ibuprofen(DB01050)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Lamivudine(DB00709)|Leucovorin(DB00650)|Meloxicam(DB00814)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|Nateglinide(DB00731)|Oseltamivir(DB00198)|Probenecid(DB01032)|Rosuvastatin(DB01098)|Sildenafil(DB00203)|Sorafenib(DB00398)|Sulfinpyrazone(DB01138)|Sunitinib(DB01268)|Tenofovir(DB00300)|Tioguanine(DB00352)|Ursodeoxycholic acid(DB01586)|Verapamil(DB00661)|Zidovudine(DB00495)	TGACTATCTGGCCTGTGGTTG	0.438																																						ENST00000376887.4																			0				breast(1)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43						c.(574-576)ggC>ggG		ATP-binding cassette, sub-family C (CFTR/MRP), member 4	Cefazolin(DB01327)						177	133	148					13																	95862991		2203	4300	6503	SO:0001819	synonymous_variant	10257				platelet activation|platelet degranulation	integral to membrane|membrane fraction|plasma membrane|platelet dense granule membrane	15-hydroxyprostaglandin dehydrogenase (NAD+) activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|chloride channel activity	g.chr13:95862991G>C	U66682	CCDS9474.1	13q31	2012-03-14			ENSG00000125257	ENSG00000125257		"ATP binding cassette transporters / subfamily C"	55	protein-coding gene	gene with protein product	"canalicular multispecific organic anion transporter (ABC superfamily)", "bA464I2.1 (ATP-binding cassette, sub-family C (CFTR/MRP), member 4)", "multidrug resistance-associated protein 4", "multispecific organic anion transporter B"	605250				8894702, 9661885	Standard	NM_005845		Approved	MRP4, EST170205, MOAT-B, MOATB	uc001vmd.4	O15439	OTTHUMG00000017216	ENST00000376887.4:c.576C>G	13.37:g.95862991G>C						ABCC4_ENST00000538287.1_3'UTR|ABCC4_ENST00000536256.1_Silent_p.G117G|ABCC4_ENST00000431522.1_Silent_p.G192G|ABCC4_ENST00000412704.1_Silent_p.G192G	p.G192G	NM_005845.3	NP_005836.2	O15439	MRP4_HUMAN			5	690	-	all_neural(89;0.0878)|Medulloblastoma(90;0.163)		192			ABC transmembrane type-1 1.		A9Z1Z7|Q8IVZ4|Q8IZN6|Q8NEW8|Q9Y6J2	Silent	SNP	ENST00000376887.4	37	c.576C>G	CCDS9474.1																																																																																				0.438	ABCC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045478.2	NM_005845		6	42	0	0	0	1	0	6	42					C	95862991	G	C	95862991	2	2	110	1	0	0	0	0	0	0	0	1	55	1190	42	5		5	ABCC4	13	95862991	Silent	SNP	G	TCGA-EJ-8474-01A-11D-2395-08		95862991	19306887	51	6024											
DLST	1743	broad.mit.edu	37	chr14	75367846	75367846	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aatggaggcgtttttggctcGctctttggaacacccattat	8	14	10	9	2	1	0	0	0	1	0	2	2	1	2	1	4	1	3	1	4	3	4			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	ce43974e-70a9-4f22-9686-f0462c597acb	g.chr14:75367846G>A	ENST00000334220.4	+	14	1198	c.1137G>A	c.(1135-1137)tcG>tcA	p.S379S	DLST_ENST00000334212.6_Silent_p.S293S	NM_001933.4	NP_001924.2	P36957	ODO2_HUMAN	dihydrolipoamide S-succinyltransferase (E2 component of 2-oxo-glutarate complex)	379					cellular metabolic process (GO:0044237)|cellular nitrogen compound metabolic process (GO:0034641)|generation of precursor metabolites and energy (GO:0006091)|L-lysine catabolic process to acetyl-CoA via saccharopine (GO:0033512)|lysine catabolic process (GO:0006554)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrial matrix (GO:0005759)|nucleus (GO:0005634)|oxoglutarate dehydrogenase complex (GO:0045252)	dihydrolipoyllysine-residue succinyltransferase activity (GO:0004149)			breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18				BRCA - Breast invasive adenocarcinoma(234;0.00698)		TTTTTGGCTCGCTCTTTGGAA	0.488																																						ENST00000334220.4																			0				breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						c.(1135-1137)tcG>tcA		dihydrolipoamide S-succinyltransferase (E2 component of 2-oxo-glutarate complex)							143	131	135					14																	75367846		2203	4300	6503	SO:0001819	synonymous_variant	1743				lysine catabolic process|tricarboxylic acid cycle	mitochondrial matrix|nucleus	dihydrolipoyllysine-residue succinyltransferase activity	g.chr14:75367846G>A		CCDS9833.1	14q23.1	2008-08-11			ENSG00000119689	ENSG00000119689	2.3.1.61		2911	protein-coding gene	gene with protein product		126063		DLTS		8009371	Standard	NM_001933		Approved		uc001xqv.2	P36957		ENST00000334220.4:c.1137G>A	14.37:g.75367846G>A						DLST_ENST00000334212.6_Silent_p.S293S	p.S379S	NM_001933.4	NP_001924.2	P36957	ODO2_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00698)	14	1198	+			379					B7Z5W8|E7ESY5|Q7LDY7|Q9BQ32	Silent	SNP	ENST00000334220.4	37	c.1137G>A	CCDS9833.1																																																																																				0.488	DLST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413637.1			9	118	0	0	0	1	0	9	118					A	75367846	G	A	75367846	2	1	110	1	0	0	0	0	0	0	0	1	4569	1074	38	1		1	DLST	14	75367846	Silent	SNP	G	TCGA-EJ-8474-01A-11D-2395-08		75367846	31981694	52	6025											
AHNAK2	113146	broad.mit.edu	37	chr14	105407424	105407424	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tattttgtaagtgtaacatcCtcacagggagagagaataga	15	11	10	5	0	1	3	1	0	0	3	2	5	2	3	1	1	1	2	1	1	5	6			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	ce43974e-70a9-4f22-9686-f0462c597acb	g.chr14:105407424C>G	ENST00000333244.5	-	7	14483	c.14364G>C	c.(14362-14364)gaG>gaC	p.E4788D	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	4788						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GTGTAACATCCTCACAGGGAG	0.498																																						ENST00000333244.5																			0				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33						c.(14362-14364)gaG>gaC		AHNAK nucleoprotein 2							94	97	96					14																	105407424		1934	4136	6070	SO:0001583	missense	113146					nucleus		g.chr14:105407424C>G	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"chromosome 14 open reading frame 78"	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.14364G>C	14.37:g.105407424C>G	ENSP00000353114:p.Glu4788Asp					AHNAK2_ENST00000557457.1_Intron	p.E4788D	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)		7	14483	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	4788					Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	ENST00000333244.5	37	c.14364G>C	CCDS45177.1	.	.	.	.	.	.	.	.	.	.	C	7.973	0.749496	0.15778	.	.	ENSG00000185567	ENST00000333244	T	0.08370	3.1	3.86	0.277	0.15668	.	.	.	.	.	T	0.03564	0.0102	N	0.14661	0.345	0.09310	N	1	B	0.14805	0.011	B	0.12156	0.007	T	0.46938	-0.9155	9	0.12766	T	0.61	.	1.451	0.02375	0.3535:0.3505:0.1296:0.1664	.	4788	Q8IVF2	AHNK2_HUMAN	D	4788	ENSP00000353114:E4788D	ENSP00000353114:E4788D	E	-	3	2	AHNAK2	104478469	0.000000	0.05858	0.000000	0.03702	0.013000	0.08279	-3.310000	0.00517	-0.208000	0.10171	0.460000	0.39030	GAG		0.498	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		36	80	0	0	0	1	0	36	80					G	105407424	C	G	105407424	3	3	110	1	0	0	0	0	1	0	0	0	415	680	24	5	3027	5	AHNAK2	14	105407424	Missense_Mutation	SNP	C	TCGA-EJ-8474-01A-11D-2395-08	30039578	105407424	1942116	53	6026											
SEC14L5	9717	broad.mit.edu	37	chr16	5038194	5038194	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttcgtgcagacaaacatcttGaactggaaggagaggacgct	13	8	12	8	2	1	3	0	1	1	2	2	6	1	5	0	3	3	2	0	3	3	2			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	ce43974e-70a9-4f22-9686-f0462c597acb	g.chr16:5038194G>A	ENST00000251170.7	+	4	438	c.258G>A	c.(256-258)ttG>ttA	p.L86L		NM_014692.1	NP_055507.1	O43304	S14L5_HUMAN	SEC14-like 5 (S. cerevisiae)	86	PRELI/MSF1. {ECO:0000255|PROSITE- ProRule:PRU00158}.					integral component of membrane (GO:0016021)|intracellular (GO:0005622)	transporter activity (GO:0005215)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|skin(1)	29						CAAACATCTTGAACTGGAAGG	0.622																																						ENST00000251170.7																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|skin(1)	29						c.(256-258)ttG>ttA		SEC14-like 5 (S. cerevisiae)							56	58	57					16																	5038194		2152	4255	6407	SO:0001819	synonymous_variant	9717					integral to membrane|intracellular	transporter activity	g.chr16:5038194G>A	AB007880	CCDS45403.1	16p13.3	2008-02-05				ENSG00000103184			29032	protein-coding gene	gene with protein product						9455477	Standard	NM_014692		Approved	KIAA0420, PRELID4B	uc002cye.2	O43304		ENST00000251170.7:c.258G>A	16.37:g.5038194G>A							p.L86L	NM_014692.1	NP_055507.1	O43304	S14L5_HUMAN			4	438	+			86			PRELI/MSF1.			Silent	SNP	ENST00000251170.7	37	c.258G>A	CCDS45403.1																																																																																				0.622	SEC14L5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434379.1			18	35	0	0	0	1	0	18	35					A	5038194	G	A	5038194	2	1	110	1	0	0	0	0	0	0	0	1	13985	1281	45	3		3	SEC14L5	16	5038194	Silent	SNP	G	TCGA-EJ-8474-01A-11D-2395-08		5038194	85316559	54	6027											
FHOD1	29109	broad.mit.edu	37	chr16	67264087	67264087	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctcactgctactgggacagaGgggttgctgggggcttcccc	5	9	15	12	0	1	1	1	0	0	1	2	2	2	2	2	5	3	4	2	5	1	3			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	ce43974e-70a9-4f22-9686-f0462c597acb	g.chr16:67264087G>A	ENST00000258201.4	-	20	3343	c.3096C>T	c.(3094-3096)ccC>ccT	p.P1032P		NM_013241.2	NP_037373.2	Q9Y613	FHOD1_HUMAN	formin homology 2 domain containing 1	1032					positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|membrane (GO:0016020)|nucleus (GO:0005634)	identical protein binding (GO:0042802)			breast(4)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	34		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.000691)|Epithelial(162;0.00462)|all cancers(182;0.0434)		CTGGGACAGAGGGGTTGCTGG	0.597																																						ENST00000258201.4																			0				breast(4)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	34						c.(3094-3096)ccC>ccT		formin homology 2 domain containing 1							48	54	52					16																	67264087		2198	4300	6498	SO:0001819	synonymous_variant	29109				actin cytoskeleton organization	cytoplasm|cytoskeleton|nucleus	actin binding	g.chr16:67264087G>A	AF113615	CCDS10834.1	16q22	2008-02-22			ENSG00000135723	ENSG00000135723			17905	protein-coding gene	gene with protein product		606881				10352228, 16112087	Standard	NM_013241		Approved	FHOS	uc002esl.3	Q9Y613	OTTHUMG00000137521	ENST00000258201.4:c.3096C>T	16.37:g.67264087G>A						FHOD1_ENST00000567687.1_Silent_p.P611P	p.P1032P	NM_013241.2	NP_037373.2	Q9Y613	FHOD1_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.000691)|Epithelial(162;0.00462)|all cancers(182;0.0434)	20	3343	-		Ovarian(137;0.0563)	1032					Q59F76|Q6Y1F2|Q76MS8|Q8N521	Silent	SNP	ENST00000258201.4	37	c.3096C>T	CCDS10834.1																																																																																				0.597	FHOD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268844.2			53	103	0	0	0	1	0	53	103					A	67264087	G	A	67264087	2	1	110	1	0	0	0	0	0	0	0	1	5882	987	35	3		3	FHOD1	16	67264087	Silent	SNP	G	TCGA-EJ-8474-01A-11D-2395-08	62225893	67264087	23090666	55	6028											
MYH13	8735	broad.mit.edu	37	chr17	10216500	10216500	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctcctccagctcctctgtgcGctgaatggcgtccgtctcgt	3	12	10	16	4	2	1	0	1	2	0	7	1	6	1	4	1	2	2	4	1	1	0			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	ce43974e-70a9-4f22-9686-f0462c597acb	g.chr17:10216500G>A	ENST00000418404.3	-	29	4319	c.4156C>T	c.(4156-4158)Cgc>Tgc	p.R1386C	MYH13_ENST00000252172.4_Missense_Mutation_p.R1386C|RP11-401O9.4_ENST00000609088.1_RNA			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	1386					cellular response to starvation (GO:0009267)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)	extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						TCCTCTGTGCGCTGAATGGCG	0.617																																						ENST00000418404.3																			0				breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						c.(4156-4158)Cgc>Tgc		myosin, heavy chain 13, skeletal muscle							139	134	136					17																	10216500		2203	4300	6503	SO:0001583	missense	8735				muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr17:10216500G>A	AF075248	CCDS45613.1	17p13	2011-09-27	2006-09-29			ENSG00000006788		"Myosins / Myosin superfamily : Class II"	7571	protein-coding gene	gene with protein product	"extraocular muscle myosin heavy chain", "extraocular myosin heavy chain"	603487	"myosin, heavy polypeptide 13, skeletal muscle"			9806854	Standard	NM_003802		Approved	MyHC-eo	uc002gmk.1	Q9UKX3		ENST00000418404.3:c.4156C>T	17.37:g.10216500G>A	ENSP00000404570:p.Arg1386Cys					MYH13_ENST00000570743.1_Missense_Mutation_p.R1386C|MYH13_ENST00000252172.4_Missense_Mutation_p.R1386C	p.R1386C			Q9UKX3	MYH13_HUMAN			29	4319	-			1386					O95252|Q9P0U8	Missense_Mutation	SNP	ENST00000418404.3	37	c.4156C>T	CCDS45613.1	.	.	.	.	.	.	.	.	.	.	G	14.60	2.583801	0.46006	.	.	ENSG00000006788	ENST00000252172	T	0.81078	-1.45	3.96	3.96	0.45880	Myosin tail (1);	.	.	.	.	D	0.90363	0.6984	H	0.95043	3.615	0.46317	D	0.998982	B	0.30361	0.277	P	0.47376	0.545	D	0.91917	0.5544	9	0.87932	D	0	.	12.2372	0.54522	0.0868:0.0:0.9132:0.0	.	1386	Q9UKX3	MYH13_HUMAN	C	1386	ENSP00000252172:R1386C	ENSP00000252172:R1386C	R	-	1	0	MYH13	10157225	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	1.132000	0.31418	2.207000	0.71202	0.462000	0.41574	CGC		0.617	MYH13-003	KNOWN	alternative_3_UTR|alternative_5_UTR|NMD_exception|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442255.1	NM_003802		9	274	0	0	0	1	0	9	274					A	10216500	G	A	10216500	3	1	110	1	0	0	0	0	1	0	0	0	10032	1087	38	1	1708	1	MYH13	17	10216500	Missense_Mutation	SNP	G	TCGA-EJ-8474-01A-11D-2395-08		10216500	70978710	56	6029											
MYH2	4620	broad.mit.edu	37	chr17	10432357	10432357	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgctttggcccgggaggcccGctctgcctcgatttcctcct	2	12	11	16	3	1	0	0	0	1	0	4	2	3	1	5	3	2	2	5	3	0	2			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	ce43974e-70a9-4f22-9686-f0462c597acb	g.chr17:10432357G>A	ENST00000245503.5	-	27	3778	c.3394C>T	c.(3394-3396)Cgg>Tgg	p.R1132W	RP11-799N11.1_ENST00000581304.1_RNA|MYH2_ENST00000397183.2_Missense_Mutation_p.R1132W|RP11-799N11.1_ENST00000399342.2_RNA|CTC-297N7.11_ENST00000587182.2_RNA|MYH2_ENST00000532183.2_Intron	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	1132					Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|plasma membrane repair (GO:0001778)|response to activity (GO:0014823)	A band (GO:0031672)|actomyosin contractile ring (GO:0005826)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|protein complex (GO:0043234)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						CGGGAGGCCCGCTCTGCCTCG	0.602																																						ENST00000245503.5																			0				NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						c.(3394-3396)Cgg>Tgg		myosin, heavy chain 2, skeletal muscle, adult							35	40	38					17																	10432357		2201	4293	6494	SO:0001583	missense	4620				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr17:10432357G>A		CCDS11156.1	17p13.1	2014-02-04	2006-09-29		ENSG00000125414	ENSG00000125414		"Myosins / Myosin superfamily : Class II"	7572	protein-coding gene	gene with protein product		160740	"myosin, heavy polypeptide 2, skeletal muscle, adult", "inclusion body myopathy 3, autosomal dominant"	IBM3		7545970, 11889243	Standard	NM_001100112		Approved	MYH2A, MYHSA2, MyHC-IIa, MYHas8, MyHC-2A	uc010coi.3	Q9UKX2	OTTHUMG00000130363	ENST00000245503.5:c.3394C>T	17.37:g.10432357G>A	ENSP00000245503:p.Arg1132Trp					MYH2_ENST00000397183.2_Missense_Mutation_p.R1132W|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA|MYH2_ENST00000532183.1_Intron	p.R1132W	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN			27	3778	-			1132					A0AVL4|Q14322|Q16229|Q567P6|Q86T56	Missense_Mutation	SNP	ENST00000245503.5	37	c.3394C>T	CCDS11156.1	.	.	.	.	.	.	.	.	.	.	G	16.97	3.269677	0.59540	.	.	ENSG00000125414	ENST00000245503;ENST00000397183	D;D	0.83992	-1.79;-1.79	5.09	0.501	0.16925	Myosin tail (1);	0.000000	0.35970	U	0.002868	D	0.93661	0.7975	H	0.98218	4.175	0.46149	D	0.99889	D	0.89917	1.0	D	0.74023	0.982	D	0.94552	0.7754	10	0.87932	D	0	.	14.4426	0.67327	0.0:0.0:0.4925:0.5075	.	1132	Q9UKX2	MYH2_HUMAN	W	1132	ENSP00000245503:R1132W;ENSP00000380367:R1132W	ENSP00000245503:R1132W	R	-	1	2	MYH2	10373082	0.872000	0.30054	0.998000	0.56505	0.982000	0.71751	-0.101000	0.10973	-0.004000	0.14419	0.591000	0.81541	CGG		0.602	MYH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252726.3	NM_017534		52	107	0	0	0	1	0	52	107					A	10432357	G	A	10432357	3	1	110	1	0	0	0	0	1	0	0	0	10035	1086	38	1	2487	1	MYH2	17	10432357	Missense_Mutation	SNP	G	TCGA-EJ-8474-01A-11D-2395-08	215857	10432357	70762853	57	6030											
LPO	4025	broad.mit.edu	37	chr17	56343598	56343598	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aatgatgactggagagctgcGcaacaagcttttccagccaa	13	8	10	10	1	0	3	0	2	0	1	1	4	1	3	2	1	5	3	2	1	4	2	rs144914036		TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	ce43974e-70a9-4f22-9686-f0462c597acb	g.chr17:56343598G>A	ENST00000262290.4	+	11	1920	c.1604G>A	c.(1603-1605)cGc>cAc	p.R535H	LPO_ENST00000543544.1_Missense_Mutation_p.R476H|LPO_ENST00000582328.1_Missense_Mutation_p.R452H|LPO_ENST00000421678.2_Missense_Mutation_p.R452H	NM_006151.2	NP_006142.1	P22079	PERL_HUMAN	lactoperoxidase	535					defense response to bacterium (GO:0042742)|detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|hydrogen peroxide catabolic process (GO:0042744)|response to oxidative stress (GO:0006979)|thiocyanate metabolic process (GO:0018969)	basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	heme binding (GO:0020037)|metal ion binding (GO:0046872)|thiocyanate peroxidase activity (GO:0036393)	p.R535H(1)		breast(5)|cervix(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	30						GGAGAGCTGCGCAACAAGCTT	0.547													G|||	1	0.000199681	0	0	5008	,	,		18016	0		0	False		,,,				2504	0.001					ENST00000262290.4																			1	Substitution - Missense(1)	p.R535H(1)	large_intestine(1)	breast(5)|cervix(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	30						c.(1603-1605)cGc>cAc		lactoperoxidase		G	HIS/ARG,HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	64	57	60		1355,1604	5.1	1	17	dbSNP_134	60	5,8595	4.3+/-15.6	0,5,4295	yes	missense,missense	LPO	NM_001160102.1,NM_006151.2	29,29	0,6,6497	AA,AG,GG		0.0581,0.0227,0.0461	probably-damaging,probably-damaging	452/630,535/713	56343598	6,13000	2203	4300	6503	SO:0001583	missense	0				hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity	g.chr17:56343598G>A	M58151	CCDS32689.1, CCDS54149.1	17q23.1	2008-02-05				ENSG00000167419	1.11.1.7		6678	protein-coding gene	gene with protein product		150205				2222811, 8964511	Standard	NM_006151		Approved	SPO	uc002ivt.3	P22079		ENST00000262290.4:c.1604G>A	17.37:g.56343598G>A	ENSP00000262290:p.Arg535His					LPO_ENST00000421678.2_Missense_Mutation_p.R452H|LPO_ENST00000582328.1_Missense_Mutation_p.R452H|LPO_ENST00000543544.1_Missense_Mutation_p.R476H	p.R535H	NM_006151.2	NP_006142.1	P22079	PERL_HUMAN			11	1920	+			535					A5JUY4|E7EMJ3|Q13408|Q3KNQ2	Missense_Mutation	SNP	ENST00000262290.4	37	c.1604G>A	CCDS32689.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.301331	0.81136	2.27E-4	5.81E-4	ENSG00000167419	ENST00000262290;ENST00000421678;ENST00000543544;ENST00000389576	T;T;T	0.71222	-0.55;-0.55;-0.55	6.06	5.08	0.68730	.	0.212137	0.46442	D	0.000298	D	0.84647	0.5518	M	0.89904	3.07	0.44619	D	0.99759	D;D	0.89917	1.0;1.0	D;D	0.91635	0.984;0.999	D	0.85488	0.1183	10	0.51188	T	0.08	-18.0602	8.3164	0.32102	0.0805:0.3021:0.6174:0.0	.	452;535	E7EMJ3;P22079	.;PERL_HUMAN	H	535;452;476;280	ENSP00000262290:R535H;ENSP00000400245:R452H;ENSP00000445344:R476H	ENSP00000262290:R535H	R	+	2	0	LPO	53698597	0.998000	0.40836	0.986000	0.45419	0.995000	0.86356	1.205000	0.32308	1.532000	0.49169	0.655000	0.94253	CGC		0.547	LPO-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000443961.1			6	70	0	0	0	1	0	6	70					A	56343598	G	A	56343598	3	1	110	1	0	0	0	0	1	0	0	0	8922	1087	38	1	1642	1	LPO	17	56343598	Missense_Mutation	SNP	G	TCGA-EJ-8474-01A-11D-2395-08	45911241	56343598	24851612	58	6031											
LIPG	9388	broad.mit.edu	37	chr18	47108803	47108803	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaattgagcccaccttttacGtcaccctttatggcactaat	11	13	5	12	1	1	1	1	1	0	0	1	1	1	1	3	1	2	1	3	1	4	6	rs201407808		TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	ce43974e-70a9-4f22-9686-f0462c597acb	g.chr18:47108803G>A	ENST00000261292.4	+	7	1386	c.1108G>A	c.(1108-1110)Gtc>Atc	p.V370I	LIPG_ENST00000427224.2_Missense_Mutation_p.V296I	NM_006033.2	NP_006024.1	Q9Y5X9	LIPE_HUMAN	lipase, endothelial	370	PLAT. {ECO:0000255|PROSITE- ProRule:PRU00152}.				cell proliferation (GO:0008283)|cholesterol homeostasis (GO:0042632)|high-density lipoprotein particle remodeling (GO:0034375)|lipid metabolic process (GO:0006629)|phospholipid catabolic process (GO:0009395)|phospholipid homeostasis (GO:0055091)|positive regulation of cholesterol transport (GO:0032376)|positive regulation of high-density lipoprotein particle clearance (GO:0010983)|regulation of lipoprotein metabolic process (GO:0050746)|response to nutrient (GO:0007584)|reverse cholesterol transport (GO:0043691)	extracellular space (GO:0005615)	heparin binding (GO:0008201)|lipoprotein lipase activity (GO:0004465)|phosphatidylcholine 1-acylhydrolase activity (GO:0008970)|phospholipase activity (GO:0004620)			autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)|skin(2)	18						CACCTTTTACGTCACCCTTTA	0.448													G|||	1	0.000199681	0	0	5008	,	,		23880	0		0.001	False		,,,				2504	0				Pancreas(126;280 1778 12814 26243 34948)	ENST00000261292.4																			0				autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)|skin(2)	18						c.(1108-1110)Gtc>Atc		lipase, endothelial		G	ILE/VAL	0,4406		0,0,2203	168	134	146		1108	5.3	0.9	18		146	1,8599	1.2+/-3.3	0,1,4299	yes	missense	LIPG	NM_006033.2	29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	370/501	47108803	1,13005	2203	4300	6503	SO:0001583	missense	9388				cholesterol homeostasis|high-density lipoprotein particle remodeling|phospholipid catabolic process|phospholipid homeostasis|positive regulation of cholesterol transport|positive regulation of high-density lipoprotein particle clearance|reverse cholesterol transport	extracellular space	heparin binding|lipoprotein lipase activity|phospholipase A1 activity|protein binding|triglyceride lipase activity	g.chr18:47108803G>A	AF118767	CCDS11938.1	18q21.1	2006-04-22				ENSG00000101670			6623	protein-coding gene	gene with protein product		603684				10318835, 10192396	Standard	XM_005258390		Approved	EDL	uc002ldv.3	Q9Y5X9		ENST00000261292.4:c.1108G>A	18.37:g.47108803G>A	ENSP00000261292:p.Val370Ile					LIPG_ENST00000427224.2_Missense_Mutation_p.V296I	p.V370I	NM_006033.2	NP_006024.1	Q9Y5X9	LIPE_HUMAN			7	1386	+			370			PLAT.		B0LPG6|Q6P9C8|Q6UW82	Missense_Mutation	SNP	ENST00000261292.4	37	c.1108G>A	CCDS11938.1	.	.	.	.	.	.	.	.	.	.	G	4.298	0.054485	0.08291	0.0	1.16E-4	ENSG00000101670	ENST00000261292;ENST00000427224	T;T	0.63417	-0.04;-0.04	6.17	5.29	0.74685	Lipoxygenase, LH2 (3);Lipase/lipooxygenase, PLAT/LH2 (1);	0.051109	0.85682	N	0.000000	T	0.46521	0.1397	N	0.17631	0.505	0.80722	D	1	P;P	0.40834	0.73;0.593	B;B	0.42343	0.384;0.384	T	0.47873	-0.9083	10	0.02654	T	1	-29.6539	14.6874	0.69059	0.0698:0.0:0.9302:0.0	.	296;370	B4DTR8;Q9Y5X9	.;LIPE_HUMAN	I	370;296	ENSP00000261292:V370I;ENSP00000387978:V296I	ENSP00000261292:V370I	V	+	1	0	LIPG	45362801	0.987000	0.35691	0.873000	0.34254	0.030000	0.12068	1.906000	0.39887	1.598000	0.50083	0.655000	0.94253	GTC		0.448	LIPG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447546.1	NM_006033		9	91	0	0	0	1	0	9	91					A	47108803	G	A	47108803	3	1	110	1	0	0	0	0	1	0	0	0	8823	1145	40	1	1134	1	LIPG	18	47108803	Missense_Mutation	SNP	G	TCGA-EJ-8474-01A-11D-2395-08		47108803	30968445	59	6032											
PLIN5	440503	broad.mit.edu	37	chr19	4529255	4529255	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tggccaccacgtccttggctGaggtcaccacctggaaggaa	9	7	12	13	1	1	1	1	1	0	0	2	3	2	3	5	5	0	1	5	5	2	1	rs140507757	byFrequency	TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	ce43974e-70a9-4f22-9686-f0462c597acb	g.chr19:4529255G>A	ENST00000381848.3	-	5	430	c.350C>T	c.(349-351)tCa>tTa	p.S117L	CTB-50L17.14_ENST00000586020.1_3'UTR	NM_001013706.2	NP_001013728.2	Q00G26	PLIN5_HUMAN	perilipin 5	117	Essential for lipid droplet targeting. {ECO:0000250}.				lipid particle organization (GO:0034389)|lipid storage (GO:0019915)|mitochondrion localization (GO:0051646)|negative regulation of fatty acid beta-oxidation (GO:0031999)|negative regulation of lipase activity (GO:0060192)|negative regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035359)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of triglyceride catabolic process (GO:0010897)|positive regulation of fatty acid beta-oxidation (GO:0032000)|positive regulation of lipase activity (GO:0060193)|positive regulation of lipid storage (GO:0010884)|positive regulation of sequestering of triglyceride (GO:0010890)|positive regulation of triglyceride biosynthetic process (GO:0010867)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|lipid particle (GO:0005811)|mitochondrion (GO:0005739)				endometrium(4)|lung(3)|skin(2)|upper_aerodigestive_tract(1)	10						GTCCTTGGCTGAGGTCACCAC	0.667																																						ENST00000381848.3																			0				endometrium(4)|lung(3)|skin(2)|upper_aerodigestive_tract(1)	10						c.(349-351)tCa>tTa		perilipin 5							42	50	47					19																	4529255		2061	4201	6262	SO:0001583	missense	440503					lipid particle		g.chr19:4529255G>A	DQ839131	CCDS42473.1	19p13.3	2009-08-12			ENSG00000214456	ENSG00000214456		"Perilipins"	33196	protein-coding gene	gene with protein product	"lipid storage droplet protein 5"	613248				17234449, 19638644	Standard	NM_001013706		Approved	LSDP5, LSDA5, OXPAT, MLDP	uc002mas.3	Q00G26		ENST00000381848.3:c.350C>T	19.37:g.4529255G>A	ENSP00000371272:p.Ser117Leu					CTB-50L17.14_ENST00000586020.1_3'UTR	p.S117L	NM_001013706.2	NP_001013728.2	Q00G26	PLIN5_HUMAN			5	430	-			117					A2RRC1|Q6ZS68	Missense_Mutation	SNP	ENST00000381848.3	37	c.350C>T	CCDS42473.1	.	.	.	.	.	.	.	.	.	.	.	16.79	3.220497	0.58560	.	.	ENSG00000214456	ENST00000381848	T	0.06768	3.26	4.83	4.83	0.62350	.	1.260730	0.05973	U	0.642721	T	0.22282	0.0537	M	0.76170	2.325	0.80722	D	1	P	0.38300	0.626	P	0.45232	0.474	T	0.01753	-1.1281	10	0.66056	D	0.02	-11.2824	13.401	0.60883	0.0:0.0:1.0:0.0	.	117	Q00G26	PLIN5_HUMAN	L	117	ENSP00000371272:S117L	ENSP00000371272:S117L	S	-	2	0	PLIN5	4480255	0.978000	0.34361	0.994000	0.49952	0.374000	0.29953	2.839000	0.48207	2.252000	0.74401	0.561000	0.74099	TCA		0.667	PLIN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458647.1	NM_001013706		9	137	0	0	0	1	0	9	137					A	4529255	G	A	4529255	3	1	110	1	0	0	0	0	1	0	0	0	12093	1294	45	3	1057	3	PLIN5	19	4529255	Missense_Mutation	SNP	G	TCGA-EJ-8474-01A-11D-2395-08		4529255	54599728	60	6033											
CACNA1A	773	broad.mit.edu	37	chr19	13423557	13423557	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtacatttttataaacatttCggacataaagagtcctaaga	16	13	6	6	1	0	2	0	0	0	2	2	3	1	3	1	1	2	1	1	1	7	8			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	ce43974e-70a9-4f22-9686-f0462c597acb	g.chr19:13423557C>T	ENST00000360228.5	-	12	1593	c.1594G>A	c.(1594-1596)Gaa>Aaa	p.E532K	CACNA1A_ENST00000573710.2_Missense_Mutation_p.E533K	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	533					adult walking behavior (GO:0007628)|behavioral response to pain (GO:0048266)|calcium ion import (GO:0070509)|calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cell death (GO:0008219)|cell growth (GO:0016049)|cellular chloride ion homeostasis (GO:0030644)|cerebellar molecular layer development (GO:0021679)|cerebellar Purkinje cell differentiation (GO:0021702)|cerebellum maturation (GO:0021590)|dendrite morphogenesis (GO:0048813)|energy reserve metabolic process (GO:0006112)|gamma-aminobutyric acid secretion (GO:0014051)|gamma-aminobutyric acid signaling pathway (GO:0007214)|glucose metabolic process (GO:0006006)|hormone metabolic process (GO:0042445)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|musculoskeletal movement, spinal reflex action (GO:0050883)|negative regulation of hormone biosynthetic process (GO:0032353)|negative regulation of neuron apoptotic process (GO:0043524)|neuromuscular process controlling balance (GO:0050885)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter metabolic process (GO:0042133)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|receptor clustering (GO:0043113)|regulation of acetylcholine secretion, neurotransmission (GO:0014056)|regulation of axonogenesis (GO:0050770)|regulation of calcium ion-dependent exocytosis (GO:0017158)|regulation of insulin secretion (GO:0050796)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|spinal cord motor neuron differentiation (GO:0021522)|sulfur amino acid metabolic process (GO:0000096)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transmission of nerve impulse (GO:0019226)|vestibular nucleus development (GO:0021750)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|syntaxin binding (GO:0019905)|voltage-gated calcium channel activity (GO:0005245)	p.E533K(2)		breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Loperamide(DB00836)|Pregabalin(DB00230)|Spironolactone(DB00421)|Verapamil(DB00661)	ATAAACATTTCGGACATAAAG	0.458																																						ENST00000360228.5																			2	Substitution - Missense(2)	p.E533K(2)	large_intestine(2)	breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42	GRCh37	CM065992	CACNA1A	M		c.(1594-1596)Gaa>Aaa		calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)						75	72	73					19																	13423557		1850	4099	5949	SO:0001583	missense	773				cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding	g.chr19:13423557C>T	U79666	CCDS45998.1, CCDS45999.1	19p13	2014-09-17			ENSG00000141837	ENSG00000141837		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1388	protein-coding gene	gene with protein product		601011		CACNL1A4, SCA6, MHP1, MHP		8825650, 16382099, 23827678	Standard	NM_000068		Approved	Cav2.1, EA2, APCA, HPCA, FHM	uc010xne.2	O00555	OTTHUMG00000044590	ENST00000360228.5:c.1594G>A	19.37:g.13423557C>T	ENSP00000353362:p.Glu532Lys					CACNA1A_ENST00000573710.2_Missense_Mutation_p.E533K	p.E532K	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		12	1593	-			533					J3KP41|P78510|P78511|Q16290|Q92690|Q99790|Q99791|Q99792|Q99793|Q9NS88|Q9UDC4	Missense_Mutation	SNP	ENST00000360228.5	37	c.1594G>A	CCDS45998.1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.349644	0.82132	.	.	ENSG00000141837	ENST00000360228;ENST00000418012;ENST00000357018;ENST00000325084	D	0.98822	-5.16	5.11	5.11	0.69529	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99576	0.9847	H	0.99273	4.495	0.58432	D	0.999998	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.83275	0.996;0.994;0.988	D	0.97583	1.0112	10	0.87932	D	0	.	17.6776	0.88235	0.0:1.0:0.0:0.0	.	533;533;532	O00555;E9PD31;Q9NS88	CAC1A_HUMAN;.;.	K	532;533;533;533	ENSP00000353362:E532K	ENSP00000317661:E533K	E	-	1	0	CACNA1A	13284557	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.776000	0.85560	2.529000	0.85273	0.650000	0.86243	GAA		0.458	CACNA1A-001	KNOWN	non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000104062.2	NM_000068		4	64	0	0	0	1	0	4	64					T	13423557	C	T	13423557	3	4	110	1	0	0	0	0	1	0	0	0	2538	893	31	2	6181	2	CACNA1A	19	13423557	Missense_Mutation	SNP	C	TCGA-EJ-8474-01A-11D-2395-08	8894302	13423557	45705426	61	6034											
ANKRD27	84079	broad.mit.edu	37	chr19	33122333	33122333	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	acaggcagtcggtgggagacGaagtcatctgagagagtaag	13	6	16	6	2	2	3	1	1	1	2	3	6	2	3	0	3	0	2	0	3	2	1	rs201398434		TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	ce43974e-70a9-4f22-9686-f0462c597acb	g.chr19:33122333G>A	ENST00000306065.4	-	13	1342	c.1184C>T	c.(1183-1185)tCg>tTg	p.S395L		NM_032139.2	NP_115515.2	Q96NW4	ANR27_HUMAN	ankyrin repeat domain 27 (VPS9 domain)	395					early endosome to late endosome transport (GO:0045022)|positive regulation of GTPase activity (GO:0043547)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|lysosome (GO:0005764)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)	p.S395L(1)		breast(3)|endometrium(7)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	42	Esophageal squamous(110;0.137)					GGTGGGAGACGAAGTCATCTG	0.478																																						ENST00000306065.4																			1	Substitution - Missense(1)	p.S395L(1)	ovary(1)	breast(3)|endometrium(7)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	42						c.(1183-1185)tCg>tTg		ankyrin repeat domain 27 (VPS9 domain)							165	145	152					19																	33122333		2203	4300	6503	SO:0001583	missense	84079				early endosome to late endosome transport	early endosome|lysosome	GTPase activator activity|guanyl-nucleotide exchange factor activity	g.chr19:33122333G>A	AK054561	CCDS32986.1	19q13.12	2013-01-10				ENSG00000105186		"Ankyrin repeat domain containing"	25310	protein-coding gene	gene with protein product	"Vps9 domain and ankyrin-repeat-containing protein"					11230166, 16525121	Standard	NM_032139		Approved	FLJ00040, DKFZp434L0718, VARP	uc002ntn.1	Q96NW4		ENST00000306065.4:c.1184C>T	19.37:g.33122333G>A	ENSP00000304292:p.Ser395Leu						p.S395L	NM_032139.2	NP_115515.2	Q96NW4	ANR27_HUMAN			13	1342	-	Esophageal squamous(110;0.137)		395					Q71MF5|Q86UC3|Q8ND80|Q9H0I4	Missense_Mutation	SNP	ENST00000306065.4	37	c.1184C>T	CCDS32986.1	.	.	.	.	.	.	.	.	.	.	G	16.85	3.236874	0.58886	.	.	ENSG00000105186	ENST00000306065	T	0.62639	0.01	5.38	5.38	0.77491	Ankyrin repeat-containing domain (1);	0.133396	0.34460	N	0.003957	T	0.57710	0.2072	N	0.20986	0.625	0.80722	D	1	D	0.58970	0.984	P	0.47645	0.553	T	0.61874	-0.6973	10	0.51188	T	0.08	-14.012	19.1212	0.93364	0.0:0.0:1.0:0.0	.	395	Q96NW4	ANR27_HUMAN	L	395	ENSP00000304292:S395L	ENSP00000304292:S395L	S	-	2	0	ANKRD27	37814173	0.993000	0.37304	0.245000	0.24217	0.262000	0.26303	6.638000	0.74309	2.504000	0.84457	0.549000	0.68633	TCG		0.478	ANKRD27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450329.1	NM_032139		23	104	0	0	0	1	0	23	104					A	33122333	G	A	33122333	3	1	110	1	0	0	0	0	1	0	0	0	655	1059	37	2	2036	2	ANKRD27	19	33122333	Missense_Mutation	SNP	G	TCGA-EJ-8474-01A-11D-2395-08	19698776	33122333	26006650	62	6035											
GGN	199720	broad.mit.edu	37	chr19	38876987	38876987	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gcttcctgtgcccctcgagaAacctctcccaaggggcgagc	7	7	11	16	2	1	1	0	0	1	1	4	3	2	1	5	2	3	1	5	2	2	1			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	ce43974e-70a9-4f22-9686-f0462c597acb	g.chr19:38876987A>G	ENST00000334928.6	-	3	1047	c.915T>C	c.(913-915)gtT>gtC	p.V305V	AC005789.9_ENST00000585411.1_RNA|SPRED3_ENST00000587013.1_5'Flank|GGN_ENST00000591809.1_Intron	NM_152657.3	NP_689870.3	Q86UU5	GGN_HUMAN	gametogenetin	305	Interaction with GGNBP1. {ECO:0000250}.|Pro-rich.				cell differentiation (GO:0030154)|gamete generation (GO:0007276)|multicellular organismal development (GO:0007275)|protein localization (GO:0008104)|spermatogenesis (GO:0007283)	nucleolus (GO:0005730)|perinuclear region of cytoplasm (GO:0048471)				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24	all_cancers(60;3.4e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			CCCCTCGAGAAACCTCTCCCA	0.697																																						ENST00000334928.6																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						c.(913-915)gtT>gtC		gametogenetin							14	17	16					19																	38876987		2191	4276	6467	SO:0001819	synonymous_variant	199720				cell differentiation|multicellular organismal development|spermatogenesis			g.chr19:38876987A>G	AF538035	CCDS12516.1	19q13.2	2008-09-04				ENSG00000179168			18869	protein-coding gene	gene with protein product		609966				12574169	Standard	NM_152657		Approved	FLJ35713, MGC33369	uc002oij.1	Q86UU5		ENST00000334928.6:c.915T>C	19.37:g.38876987A>G						GGN_ENST00000591809.1_Intron|AC005789.9_ENST00000585411.1_RNA	p.V305V	NM_152657.3	NP_689870.3	Q86UU5	GGN_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		3	1047	-	all_cancers(60;3.4e-06)		305			Interaction with GGNBP1 (By similarity).|Pro-rich.		Q7RTU6|Q86UU4|Q8NAA1	Silent	SNP	ENST00000334928.6	37	c.915T>C	CCDS12516.1																																																																																				0.697	GGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459205.1	NM_152657		4	39	0	0	0	1	0	4	39					G	38876987	A	G	38876987	2	3	110	1	0	0	0	0	0	0	0	1	6358	1	1	4		4	GGN	19	38876987	Silent	SNP	A	TCGA-EJ-8474-01A-11D-2395-08	5754654	38876987	20251996	63	6036											
NOVA2	4858	broad.mit.edu	37	chr19	46457064	46457064	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctctgtcggggttcatcgTggtttggggttgaaggatgt	4	14	18	5	2	2	1	1	1	1	0	4	2	2	2	0	7	0	4	0	7	1	3			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	ce43974e-70a9-4f22-9686-f0462c597acb	g.chr19:46457064T>A	ENST00000263257.5	-	3	564	c.370A>T	c.(370-372)Acg>Tcg	p.T124S		NM_002516.2	NP_002507.1	Q9UNW9	NOVA2_HUMAN	neuro-oncological ventral antigen 2	124					regulation of RNA metabolic process (GO:0051252)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(3)|large_intestine(5)|lung(13)	21		all_neural(266;0.113)|Ovarian(192;0.127)		OV - Ovarian serous cystadenocarcinoma(262;0.00245)|GBM - Glioblastoma multiforme(486;0.0782)|Epithelial(262;0.179)		GGGTTCATCGTGGTTTGGGGT	0.527																																						ENST00000263257.5																			0				endometrium(3)|large_intestine(5)|lung(13)	21						c.(370-372)Acg>Tcg		neuro-oncological ventral antigen 2							305	259	274					19																	46457064		2203	4300	6503	SO:0001583	missense	4858					nucleus	RNA binding	g.chr19:46457064T>A	U70477	CCDS12679.1	19q13.3	2008-07-17				ENSG00000104967			7887	protein-coding gene	gene with protein product	"neuro-oncological ventral antigen 3"	601991		NOVA3		9344654, 10368286	Standard	NM_002516		Approved	ANOVA	uc002pdv.2	Q9UNW9		ENST00000263257.5:c.370A>T	19.37:g.46457064T>A	ENSP00000263257:p.Thr124Ser						p.T124S	NM_002516.2	NP_002507.1	Q9UNW9	NOVA2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00245)|GBM - Glioblastoma multiforme(486;0.0782)|Epithelial(262;0.179)	3	564	-		all_neural(266;0.113)|Ovarian(192;0.127)	124					O43267|Q9UEA1	Missense_Mutation	SNP	ENST00000263257.5	37	c.370A>T	CCDS12679.1	.	.	.	.	.	.	.	.	.	.	T	17.77	3.471471	0.63737	.	.	ENSG00000104967	ENST00000263257	T	0.62639	0.01	4.86	4.86	0.63082	.	0.000000	0.85682	D	0.000000	T	0.63153	0.2487	N	0.24115	0.695	0.50632	D	0.999888	D	0.63880	0.993	D	0.68192	0.956	T	0.58306	-0.7659	10	0.18710	T	0.47	-5.6018	12.4742	0.55803	0.0:0.0:0.0:1.0	.	124	Q9UNW9	NOVA2_HUMAN	S	124	ENSP00000263257:T124S	ENSP00000263257:T124S	T	-	1	0	NOVA2	51148904	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.508000	0.81686	2.046000	0.60703	0.460000	0.39030	ACG		0.527	NOVA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437210.2	NM_002516		61	144	0	0	0	1	0	61	144					A	46457064	T	A	46457064	3	1	110	1	0	0	0	0	1	0	0	0	10555	1696	59	5	1116	5	NOVA2	19	46457064	Missense_Mutation	SNP	T	TCGA-EJ-8474-01A-11D-2395-08	7580077	46457064	12671919	64	6037											
TRPM2	7226	broad.mit.edu	37	chr21	45846600	45846600	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagagaggaaggacgcggccGccatggaccccatgggagag	11	2	17	11	3	0	2	0	0	0	2	0	7	0	5	4	5	0	0	4	5	1	0			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	ce43974e-70a9-4f22-9686-f0462c597acb	g.chr21:45846600G>A	ENST00000397928.1	+	26	4298	c.3853G>A	c.(3853-3855)Gcc>Acc	p.A1285T	TRPM2_ENST00000300482.5_Missense_Mutation_p.A1285T|AP001065.2_ENST00000423310.1_RNA|TRPM2_ENST00000300481.9_Missense_Mutation_p.A1265T|TRPM2_ENST00000498430.1_3'UTR|TRPM2_ENST00000397932.2_Missense_Mutation_p.A1335T	NM_003307.3	NP_003298	O94759	TRPM2_HUMAN	transient receptor potential cation channel, subfamily M, member 2	1285					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|response to hydroperoxide (GO:0033194)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ADP-ribose diphosphatase activity (GO:0047631)|calcium channel activity (GO:0005262)|manganese ion transmembrane transporter activity (GO:0005384)|sodium channel activity (GO:0005272)			breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						GGACGCGGCCGCCATGGACCC	0.592																																						ENST00000397928.1																			0				breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						c.(3853-3855)Gcc>Acc		transient receptor potential cation channel, subfamily M, member 2							64	71	69					21																	45846600		2203	4300	6503	SO:0001583	missense	7226					integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity	g.chr21:45846600G>A	AB001535	CCDS13710.1	21q22.3	2011-12-14		2002-01-18	ENSG00000142185	ENSG00000142185		"Voltage-gated ion channels / Transient receptor potential cation channels", "Nudix motif containing"	12339	protein-coding gene	gene with protein product		603749		TRPC7		9806837, 11385575, 16382100	Standard	NR_038257		Approved	KNP3, LTRPC2, NUDT9L1, NUDT9H, EREG1	uc002zew.1	O94759	OTTHUMG00000040840	ENST00000397928.1:c.3853G>A	21.37:g.45846600G>A	ENSP00000381023:p.Ala1285Thr					TRPM2_ENST00000498430.1_3'UTR|TRPM2_ENST00000300481.9_Missense_Mutation_p.A1265T|TRPM2_ENST00000397932.2_Missense_Mutation_p.A1335T|TRPM2_ENST00000300482.5_Missense_Mutation_p.A1285T	p.A1285T	NM_003307.3	NP_003298.1	O94759	TRPM2_HUMAN			26	4298	+			1285					D3DSL6|Q5KTC2|Q6J3P5|Q96KN6|Q96Q93	Missense_Mutation	SNP	ENST00000397928.1	37	c.3853G>A	CCDS13710.1	.	.	.	.	.	.	.	.	.	.	G	0.939	-0.710034	0.03230	.	.	ENSG00000142185	ENST00000300482;ENST00000397928;ENST00000300481;ENST00000397932;ENST00000540347	T;T;T;T	0.75260	-0.92;-0.92;-0.92;-0.92	4.46	-8.55	0.00908	NUDIX hydrolase domain-like (1);	2.167450	0.02664	N	0.107872	T	0.52613	0.1745	N	0.20986	0.625	0.09310	N	1	B;B;B	0.17852	0.01;0.024;0.01	B;B;B	0.11329	0.006;0.001;0.003	T	0.34204	-0.9838	10	0.33940	T	0.23	-2.3686	2.5774	0.04809	0.4581:0.2326:0.2075:0.1018	.	1335;1071;1285	E9PGK7;Q5KTC1;O94759	.;.;TRPM2_HUMAN	T	1285;1285;1265;1335;63	ENSP00000300482:A1285T;ENSP00000381023:A1285T;ENSP00000300481:A1265T;ENSP00000381026:A1335T	ENSP00000300481:A1265T	A	+	1	0	TRPM2	44671028	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	-1.427000	0.02441	-1.684000	0.01443	-0.126000	0.14955	GCC		0.592	TRPM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098086.1	NM_003307		6	141	0	0	0	1	0	6	141					A	45846600	G	A	45846600	3	1	110	1	0	0	0	0	1	0	0	0	16583	1087	38	1	3955	1	TRPM2	21	45846600	Missense_Mutation	SNP	G	TCGA-EJ-8474-01A-11D-2395-08		45846600	2283295	65	6038											
PPARA	5465	broad.mit.edu	37	chr22	46611177	46611177	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acatcgaatgtagaatctgcGgggacaaggcctcaggctat	12	8	12	9	2	2	1	1	0	1	1	3	3	2	2	1	4	1	2	1	4	5	2			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	ce43974e-70a9-4f22-9686-f0462c597acb	g.chr22:46611177G>A	ENST00000396000.2	+	4	581	c.316G>A	c.(316-318)Ggg>Agg	p.G106R	PPARA_ENST00000402126.1_Missense_Mutation_p.G106R|PPARA_ENST00000434345.2_Missense_Mutation_p.G106R|PPARA_ENST00000262735.5_Missense_Mutation_p.G106R|PPARA_ENST00000407236.1_Missense_Mutation_p.G106R			Q07869	PPARA_HUMAN	peroxisome proliferator-activated receptor alpha	106					behavioral response to nicotine (GO:0035095)|cellular lipid metabolic process (GO:0044255)|circadian regulation of gene expression (GO:0032922)|enamel mineralization (GO:0070166)|epidermis development (GO:0008544)|fatty acid metabolic process (GO:0006631)|fatty acid transport (GO:0015908)|gene expression (GO:0010467)|heart development (GO:0007507)|intracellular receptor signaling pathway (GO:0030522)|lipid metabolic process (GO:0006629)|lipoprotein metabolic process (GO:0042157)|negative regulation of appetite (GO:0032099)|negative regulation of blood pressure (GO:0045776)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of glycolytic process (GO:0045820)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|negative regulation of neuron death (GO:1901215)|negative regulation of protein binding (GO:0032091)|negative regulation of receptor biosynthetic process (GO:0010871)|negative regulation of sequestering of triglyceride (GO:0010891)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|positive regulation of fatty acid beta-oxidation (GO:0032000)|positive regulation of fatty acid oxidation (GO:0046321)|positive regulation of gluconeogenesis (GO:0045722)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cellular ketone metabolic process by positive regulation of transcription from RNA polymerase II promoter (GO:0072366)|regulation of circadian rhythm (GO:0042752)|regulation of glycolytic by positive regulation of transcription from RNA polymerase II promoter (GO:0072363)|regulation of lipid transport by positive regulation of transcription from RNA polymerase II promoter (GO:0072369)|response to hypoxia (GO:0001666)|response to insulin (GO:0032868)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|wound healing (GO:0042060)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|drug binding (GO:0008144)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|lipid binding (GO:0008289)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II repressing transcription factor binding (GO:0001103)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|ubiquitin conjugating enzyme binding (GO:0031624)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	15		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00522)	Bezafibrate(DB01393)|Clofibrate(DB00636)|Fenofibrate(DB01039)|Gemfibrozil(DB01241)|Indomethacin(DB00328)	TAGAATCTGCGGGGACAAGGC	0.592																																						ENST00000396000.2																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	15						c.(316-318)Ggg>Agg		peroxisome proliferator-activated receptor alpha	Atorvastatin(DB01076)|Bezafibrate(DB01393)|Clofibrate(DB00636)|Fenofibrate(DB01039)|Gemfibrozil(DB01241)|Simvastatin(DB00641)						89	74	79					22																	46611177		2203	4300	6503	SO:0001583	missense	5465				fatty acid metabolic process|fatty acid transport|negative regulation of appetite|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|negative regulation of receptor biosynthetic process|negative regulation of sequestering of triglyceride|negative regulation of transcription from RNA polymerase II promoter|positive regulation of fatty acid beta-oxidation|regulation of cellular ketone metabolic process by positive regulation of transcription from an RNA polymerase II promoter|regulation of glycolysis by positive regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by positive regulation of transcription from an RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	drug binding|ligand-regulated transcription factor activity|lipid binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|ubiquitin conjugating enzyme binding|zinc ion binding	g.chr22:46611177G>A	L02932	CCDS33669.1	22q12-q13.1	2013-01-16	2006-10-17		ENSG00000186951	ENSG00000186951		"Nuclear hormone receptors"	9232	protein-coding gene	gene with protein product		170998	"peroxisome proliferative activated receptor, alpha"	PPAR		7684926, 10591208	Standard	XM_005261655		Approved	hPPAR, NR1C1	uc003bgx.1	Q07869	OTTHUMG00000150443	ENST00000396000.2:c.316G>A	22.37:g.46611177G>A	ENSP00000379322:p.Gly106Arg					PPARA_ENST00000402126.1_Missense_Mutation_p.G106R|PPARA_ENST00000434345.2_Missense_Mutation_p.G106R|PPARA_ENST00000262735.5_Missense_Mutation_p.G106R|PPARA_ENST00000407236.1_Missense_Mutation_p.G106R	p.G106R			Q07869	PPARA_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.00522)	4	581	+		Ovarian(80;0.00965)|all_neural(38;0.0416)	106					B0G0X3|Q16241|Q6I9S0|Q92486|Q92689|Q9Y3N1	Missense_Mutation	SNP	ENST00000396000.2	37	c.316G>A	CCDS33669.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.224169	0.79576	.	.	ENSG00000186951	ENST00000396000;ENST00000262735;ENST00000420804;ENST00000407236;ENST00000402126;ENST00000434345	D;D;D;D;D;D	0.96940	-4.18;-4.18;-4.18;-4.18;-4.18;-4.18	5.15	5.15	0.70609	Zinc finger, NHR/GATA-type (1);Zinc finger, nuclear hormone receptor-type (5);	0.098076	0.64402	D	0.000001	D	0.98283	0.9431	M	0.88377	2.95	0.80722	D	1	D;D	0.71674	0.998;0.998	D;D	0.67231	0.95;0.95	D	0.99297	1.0900	10	0.87932	D	0	.	17.9572	0.89073	0.0:0.0:1.0:0.0	.	106;106	F1D8S4;Q07869	.;PPARA_HUMAN	R	106	ENSP00000379322:G106R;ENSP00000262735:G106R;ENSP00000414752:G106R;ENSP00000385523:G106R;ENSP00000385246:G106R;ENSP00000408149:G106R	ENSP00000262735:G106R	G	+	1	0	PPARA	44989841	1.000000	0.71417	0.988000	0.46212	0.994000	0.84299	4.008000	0.57103	2.546000	0.85860	0.591000	0.81541	GGG		0.592	PPARA-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318129.3	NM_001001928		4	52	0	0	0	1	0	4	52					A	46611177	G	A	46611177	3	1	110	1	0	0	0	0	1	0	0	0	12297	1116	39	2	322	2	PPARA	22	46611177	Missense_Mutation	SNP	G	TCGA-EJ-8474-01A-11D-2395-08		46611177	4693389	66	6039											
CERK	64781	broad.mit.edu	37	chr22	47095220	47095220	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tctgagttacctgaaaagtcGtatctggcaagacccaacca	13	9	8	11	1	2	3	0	2	2	1	3	3	2	3	3	1	2	3	3	1	6	2	rs377639952		TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	ce43974e-70a9-4f22-9686-f0462c597acb	g.chr22:47095220G>A	ENST00000216264.8	-	8	1045	c.933C>T	c.(931-933)taC>taT	p.Y311Y	CERK_ENST00000541677.1_Silent_p.Y113Y	NM_022766.5	NP_073603.2	Q8TCT0	CERK1_HUMAN	ceramide kinase	311					ceramide metabolic process (GO:0006672)|glycosphingolipid metabolic process (GO:0006687)|lipid phosphorylation (GO:0046834)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ceramide kinase activity (GO:0001729)|diacylglycerol kinase activity (GO:0004143)|magnesium ion binding (GO:0000287)|NAD+ kinase activity (GO:0003951)			cervix(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(2)|skin(2)	20		Breast(42;0.00571)|Ovarian(80;0.00965)|all_neural(38;0.0416)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)|BRCA - Breast invasive adenocarcinoma(115;0.171)		CTGAAAAGTCGTATCTGGCAA	0.552																																						ENST00000216264.8																			0				cervix(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(2)|skin(2)	20						c.(931-933)taC>taT		ceramide kinase		G		1,4405	2.1+/-5.4	0,1,2202	215	157	177		933	1.3	1	22		177	0,8600		0,0,4300	no	coding-synonymous	CERK	NM_022766.5		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		311/538	47095220	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	64781				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|ceramide metabolic process	integral to membrane of membrane fraction|membrane|nucleus	ATP binding|ceramide kinase activity|diacylglycerol kinase activity|magnesium ion binding	g.chr22:47095220G>A	AB079066	CCDS14077.1	22q13.31	2008-06-10			ENSG00000100422	ENSG00000100422			19256	protein-coding gene	gene with protein product		610307				11956206, 11258795	Standard	NM_022766		Approved	hCERK, FLJ23239, dA59H18.3, DKFZp434E0211, FLJ21430, KIAA1646, LK4, dA59H18.2	uc003bia.3	Q8TCT0	OTTHUMG00000150395	ENST00000216264.8:c.933C>T	22.37:g.47095220G>A						CERK_ENST00000541677.1_Silent_p.Y113Y	p.Y311Y	NM_022766.5	NP_073603.2	Q8TCT0	CERK1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)|BRCA - Breast invasive adenocarcinoma(115;0.171)	8	1045	-		Breast(42;0.00571)|Ovarian(80;0.00965)|all_neural(38;0.0416)|Lung SC(80;0.164)	311					A0JNT4|A8K611|Q6NX59|Q9BYB3|Q9UGE5	Silent	SNP	ENST00000216264.8	37	c.933C>T	CCDS14077.1																																																																																				0.552	CERK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317924.2	NM_022766		17	127	0	0	0	1	0	17	127					A	47095220	G	A	47095220	2	1	110	1	0	0	0	0	0	0	0	1	3267	1140	40	1		1	CERK	22	47095220	Silent	SNP	G	TCGA-EJ-8474-01A-11D-2395-08	484043	47095220	4209346	67	6040											
FAM47C	442444	broad.mit.edu	37	chrX	37026830	37026830	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcacagccagcacggaaggCgttcgtagaggaagtggaag	13	4	16	8	3	0	1	0	0	0	1	1	4	0	4	1	4	3	4	1	4	4	2			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	ce43974e-70a9-4f22-9686-f0462c597acb	g.chrX:37026830C>T	ENST00000358047.3	+	1	399	c.347C>T	c.(346-348)gCg>gTg	p.A116V		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	116										breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						GCACGGAAGGCGTTCGTAGAG	0.547																																						ENST00000358047.3																			0				breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						c.(346-348)gCg>gTg		family with sequence similarity 47, member C							93	85	88					X																	37026830		2202	4300	6502	SO:0001583	missense	442444							g.chrX:37026830C>T	AK125992	CCDS35227.1	Xp21.1	2006-07-04			ENSG00000198173	ENSG00000198173			25301	protein-coding gene	gene with protein product							Standard	NM_001013736		Approved		uc004ddl.2	Q5HY64	OTTHUMG00000024025	ENST00000358047.3:c.347C>T	X.37:g.37026830C>T	ENSP00000367913:p.Ala116Val						p.A116V	NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN			1	399	+			116					Q6ZU46	Missense_Mutation	SNP	ENST00000358047.3	37	c.347C>T	CCDS35227.1	.	.	.	.	.	.	.	.	.	.	C	3.282	-0.146861	0.06627	.	.	ENSG00000198173	ENST00000358047	T	0.20069	2.1	0.502	-1.0	0.10196	.	.	.	.	.	T	0.10766	0.0263	L	0.28694	0.88	0.09310	N	1	P	0.37122	0.583	B	0.31614	0.133	T	0.12319	-1.0552	9	0.46703	T	0.11	.	2.1461	0.03788	0.4845:0.2644:0.0:0.2511	.	116	Q5HY64	FA47C_HUMAN	V	116	ENSP00000367913:A116V	ENSP00000367913:A116V	A	+	2	0	FAM47C	36936751	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.832000	0.04400	-1.515000	0.01784	-0.713000	0.03633	GCG		0.547	FAM47C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060508.1	NM_001013736		22	77	0	0	0	1	0	22	77					T	37026830	C	T	37026830	3	4	110	1	0	0	0	0	1	0	0	0	5571	768	27	1	349	1	FAM47C	23	37026830	Missense_Mutation	SNP	C	TCGA-EJ-8474-01A-11D-2395-08		37026830	118243730	68	6041											
PCDH11Y	83259	broad.mit.edu	37	chrY	4925416	4925416	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atatcaattccagagaactcGgctataaactctaaatatac	17	11	4	9	1	2	1	1	0	1	1	4	2	3	1	1	1	3	1	1	1	10	7			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	ce43974e-70a9-4f22-9686-f0462c597acb	g.chrY:4925416G>A	ENST00000333703.4	+	4	1032	c.519G>A	c.(517-519)tcG>tcA	p.S173S	PCDH11Y_ENST00000362095.5_Silent_p.S184S|PCDH11Y_ENST00000215473.6_Silent_p.S184S	NM_001278619.1|NM_032971.2	NP_001265548.1|NP_116753.1	Q9BZA8	PC11Y_HUMAN	protocadherin 11 Y-linked	184	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|kidney(2)|large_intestine(7)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						CAGAGAACTCGGCTATAAACT	0.363																																						ENST00000333703.4																			0				autonomic_ganglia(1)|kidney(2)|large_intestine(7)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						c.(517-519)tcG>tcA		protocadherin 11 Y-linked							15	14	14					Y																	4925416		619	1907	2526	SO:0001819	synonymous_variant	83259				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chrY:4925416G>A	AF332217	CCDS14776.1, CCDS14777.1, CCDS76066.1	Yp11.2	2010-01-26	2002-05-22	2002-05-24	ENSG00000099715	ENSG00000099715		"Cadherins / Protocadherins : Non-clustered"	15813	protein-coding gene	gene with protein product		400022	"protocadherin 22"	PCDH22		10644456, 11003707	Standard	NM_032971		Approved	PCDHY	uc004fqo.3	Q9BZA8	OTTHUMG00000035105	ENST00000333703.4:c.519G>A	Y.37:g.4925416G>A						PCDH11Y_ENST00000215473.6_Silent_p.S184S|PCDH11Y_ENST00000362095.5_Silent_p.S184S	p.S173S	NM_001278619.1|NM_032971.2	NP_001265548.1|NP_116753.1	Q9BZA8	PC11Y_HUMAN			4	1032	+			184			Cadherin 2.		Q70LR6|Q70LR8|Q70LS0|Q70LS1|Q70LS2|Q70LS3|Q70LS4|Q70LS5|Q8WY34|Q9BZA9|Q9H4E1	Silent	SNP	ENST00000333703.4	37	c.519G>A	CCDS14776.1																																																																																				0.363	PCDH11Y-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084979.2	NM_032973		5	45	0	0	0	1	0	5	45					A	4925416	G	A	4925416	2	1	110	1	0	0	0	0	0	0	0	1	11509	1103	39	2		2	PCDH11Y	24	4925416	Silent	SNP	G	TCGA-EJ-8474-01A-11D-2395-08		4925416	54448150	69	6042											
ATXN7	6314	broad.mit.edu	37	chr3	63981655	63981655	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgttggttcactcttcctcCtcctcttcctcctcctcctc	1	17	3	20	0	3	0	1	0	2	0	11	0	10	0	7	1	0	2	7	1	0	4	rs377376951	byFrequency	TCGA-EJ-A46B-01A-31D-A257-08	TCGA-EJ-A46B-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71680fa7-bf45-4381-828f-0cc1f73a13c6	94207d64-f627-4ce4-b463-6ea128d2ad79	g.chr3:63981655C>T	ENST00000295900.6	+	12	2707	c.2157C>T	c.(2155-2157)tcC>tcT	p.S719S	ATXN7_ENST00000487717.1_Silent_p.S719S|ATXN7_ENST00000484332.1_Silent_p.S574S|ATXN7_ENST00000538065.1_Silent_p.S719S|ATXN7_ENST00000398590.3_Silent_p.S719S	NM_000333.3	NP_000324.1	O15265	ATX7_HUMAN	ataxin 7	719	Poly-Ser.|Ser-rich.				cell death (GO:0008219)|chromatin organization (GO:0006325)|histone deubiquitination (GO:0016578)|microtubule cytoskeleton organization (GO:0000226)|negative regulation of insulin-like growth factor receptor signaling pathway (GO:0043569)|negative regulation of phosphorylation (GO:0042326)|nucleus organization (GO:0006997)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)	chromatin binding (GO:0003682)			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(12)|prostate(2)|stomach(1)|urinary_tract(3)	35		Prostate(884;0.0181)		BRCA - Breast invasive adenocarcinoma(55;0.000614)|KIRC - Kidney renal clear cell carcinoma(15;0.00294)|Kidney(15;0.00305)		Actcttcctcctcctcttcct	0.498													C|||	2	0.000399361	0	0	5008	,	,		17985	0		0.002	False		,,,				2504	0					ENST00000398590.3																			0				NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(12)|prostate(2)|stomach(1)|urinary_tract(3)	35						c.(2155-2157)tcC>tcT		ataxin 7		C	,,	0,4326		0,0,2163	56	67	63		2157,1722,2157	1.2	0.2	3		63	11,8547		0,11,4268	no	coding-synonymous,coding-synonymous,coding-synonymous	ATXN7	NM_000333.3,NM_001128149.2,NM_001177387.1	,,	0,11,6431	TT,TC,CC		0.1285,0.0,0.0854	,,	719/893,574/748,719/946	63981655	11,12873	2163	4279	6442	SO:0001819	synonymous_variant	6314				cell death|histone deubiquitination|nucleus organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception	cytoplasm|nuclear matrix|nucleolus	protein binding|zinc ion binding	g.chr3:63981655C>T	AJ000517	CCDS43102.1, CCDS46861.1, CCDS46861.2, CCDS54603.1	3p21.1-p12	2014-09-17	2004-08-12	2004-08-12	ENSG00000163635	ENSG00000163635		"Ataxins"	10560	protein-coding gene	gene with protein product		607640	"spinocerebellar ataxia 7 (olivopontocerebellar atrophy with retinal degeneration)"	SCA7		7647798, 10598805	Standard	NM_000333		Approved	OPCA3, ADCAII	uc021wzy.1	O15265	OTTHUMG00000158763	ENST00000295900.6:c.2157C>T	3.37:g.63981655C>T						ATXN7_ENST00000295900.6_Silent_p.S719S|ATXN7_ENST00000538065.1_Silent_p.S719S|ATXN7_ENST00000487717.1_Silent_p.S719S|ATXN7_ENST00000484332.1_Silent_p.S574S	p.S719S	NM_001177387.1	NP_001170858.1	O15265	ATX7_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000614)|KIRC - Kidney renal clear cell carcinoma(15;0.00294)|Kidney(15;0.00305)	12	2710	+		Prostate(884;0.0181)	719			Poly-Ser.|Ser-rich.		B4E207|E9PHP9|O75328|O75329|Q9Y6P8	Silent	SNP	ENST00000295900.6	37	c.2157C>T	CCDS43102.1																																																																																				0.498	ATXN7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000352070.1	NM_000333		4	70	0	0	0	1	0	4	70					T	63981655	C	T	63981655	2	4	111	1	0	0	0	0	0	0	0	1	1215	668	24	3		3	ATXN7	3	63981655	Silent	SNP	C	TCGA-EJ-A46B-01A-31D-A257-08		63981655	134040775	1	6043											
LMOD2	442721	broad.mit.edu	37	chr7	123301995	123301997	+	In_Frame_Del	DEL	GAG	GAG	-																															tttctgaggaagtgtatacaGaggaggaggaggaggagtcc																										TCGA-EJ-A46B-01A-31D-A257-08	TCGA-EJ-A46B-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71680fa7-bf45-4381-828f-0cc1f73a13c6	94207d64-f627-4ce4-b463-6ea128d2ad79	g.chr7:123301995_123301997delGAG	ENST00000458573.2	+	2	512_514	c.355_357delGAG	c.(355-357)gagdel	p.E124del	LMOD2_ENST00000456238.2_Intron	NM_207163.1	NP_997046.1	Q6P5Q4	LMOD2_HUMAN	leiomodin 2 (cardiac)	124	Glu-rich.					cytoskeleton (GO:0005856)											AGTGTATACAgaggaggaggagg	0.409																																						ENST00000458573.2																			0											c.(355-357)del		leiomodin 2 (cardiac)				66,3558		3,60,1749						-9.4	0			37	117,7687		5,107,3790	no	coding	LMOD2	NM_207163.1		8,167,5539	A1A1,A1R,RR		1.4992,1.8212,1.6013				183,11245				SO:0001651	inframe_deletion	442721					cytoskeleton	actin binding|tropomyosin binding	g.chr7:123301995_123301997delGAG	AC006333	CCDS47693.1	7q31.32	2008-08-08			ENSG00000170807	ENSG00000170807			6648	protein-coding gene	gene with protein product		608006					Standard	NM_207163		Approved		uc003vky.2	Q6P5Q4	OTTHUMG00000157149	ENST00000458573.2:c.355_357delGAG	7.37:g.123302004_123302006delGAG	ENSP00000411932:p.Glu124del					LMOD2_ENST00000456238.2_Intron	p.E124del	NM_207163.1	NP_997046.1	Q6P5Q4	LMOD2_HUMAN			2	512_514	+			124			Glu-rich.		A4D0W9|A4D0Y2|Q8WVJ8	In_Frame_Del	DEL	ENST00000458573.2	37	c.355_357delGAG	CCDS47693.1																																																																																				0.409	LMOD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348525.1			2	4						2	4	---	---	---	---	-	123301997	GAG	-	123301995	7	5	111	1	0	1	0	1	0	0	0	0	8857	943	33	0	361	0	LMOD2	7	123301995	In_Frame_Del	DEL	GAG	TCGA-EJ-A46B-01A-31D-A257-08		123301995	35836668	2	6044											
AGAP6	414189	broad.mit.edu	37	chr10	51748528	51748529	+	Frame_Shift_Ins	INS	-	-	C																															agcgtcagcctcgagtttgaINSccagcagcaggggtcggtgt																								rs555930275|rs375532834		TCGA-EJ-A46B-01A-31D-A257-08	TCGA-EJ-A46B-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71680fa7-bf45-4381-828f-0cc1f73a13c6	94207d64-f627-4ce4-b463-6ea128d2ad79	g.chr10:51748528_51748529insC	ENST00000374056.4	+	1	451_452	c.53_54insC	c.(52-57)gaccagfs	p.Q19fs	AGAP6_ENST00000412531.3_Frame_Shift_Ins_p.Q19fs			Q5VW22	AGAP6_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 6	19					regulation of ARF GTPase activity (GO:0032312)		ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)			NS(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(1)|lung(8)|prostate(3)|skin(1)|stomach(2)	29						CTCGAGTTTGACCAGCAGCAGG	0.604																																						ENST00000374056.4																			0				NS(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(1)|lung(8)|prostate(3)|skin(1)|stomach(2)	29						c.(52-54)gcafs		ArfGAP with GTPase domain, ankyrin repeat and PH domain 6																																				SO:0001589	frameshift_variant	414189				regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding	g.chr10:51748528_51748529insC		CCDS44397.1	10q11.23	2013-01-10	2008-09-22	2008-09-22	ENSG00000204149	ENSG00000204149		"ADP-ribosylation factor GTPase activating proteins", "Pleckstrin homology (PH) domain containing", "Ankyrin repeat domain containing"	23466	protein-coding gene	gene with protein product			"centaurin, gamma-like family, member 3"	CTGLF3			Standard	NM_001077665		Approved	bA324H6.1	uc001jix.4	Q5VW22	OTTHUMG00000018220	ENST00000374056.4:c.55dupC	10.37:g.51748530_51748530dupC	ENSP00000363168:p.Gln19fs					AGAP6_ENST00000412531.3_Frame_Shift_Ins_p.A18fs	p.A18fs			C9IYN2	C9IYN2_HUMAN			1	451_452	+			18						Frame_Shift_Ins	INS	ENST00000374056.4	37	c.53_54insC																																																																																					0.604	AGAP6-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_001077665		4	5						4	5	---	---	---	---	C	51748529	-	C	51748528	7	5	111	1	0	1	1	0	0	0	0	0	372	275	10	0	55	0	AGAP6	10	51748528	Frame_Shift_Ins	INS	-	TCGA-EJ-A46B-01A-31D-A257-08		51748528	83786219	3	6045											
MFGE8	4240	broad.mit.edu	37	chr15	89453043	89453043	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgtctcacagtggttgcccGcgtagcccttaaggcacgtg	6	10	12	13	4	1	0	1	0	1	0	3	0	1	0	2	2	2	3	2	2	2	3	rs34449331	byFrequency	TCGA-EJ-A46B-01A-31D-A257-08	TCGA-EJ-A46B-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71680fa7-bf45-4381-828f-0cc1f73a13c6	94207d64-f627-4ce4-b463-6ea128d2ad79	g.chr15:89453043G>A	ENST00000566497.1	-	2	246	c.185C>T	c.(184-186)gCg>gTg	p.A62V	MFGE8_ENST00000559997.1_Intron|MFGE8_ENST00000539437.1_Missense_Mutation_p.A54V|MFGE8_ENST00000542878.1_Intron|MFGE8_ENST00000268150.8_Missense_Mutation_p.A62V|MFGE8_ENST00000268151.7_Missense_Mutation_p.A62V			Q08431	MFGM_HUMAN	milk fat globule-EGF factor 8 protein	62	EGF-like. {ECO:0000255|PROSITE- ProRule:PRU00076}.				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|phagocytosis, engulfment (GO:0006911)|phagocytosis, recognition (GO:0006910)|positive regulation of apoptotic cell clearance (GO:2000427)|single fertilization (GO:0007338)|viral process (GO:0016032)	external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of plasma membrane (GO:0019897)|membrane (GO:0016020)|vesicle (GO:0031982)	phosphatidylethanolamine binding (GO:0008429)|phosphatidylserine binding (GO:0001786)			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	22	Lung NSC(78;0.0392)|all_lung(78;0.077)					GTGGTTGCCCGCGTAGCCCTT	0.557													G|||	2	0.000399361	0	0	5008	,	,		22018	0		0.002	False		,,,				2504	0					ENST00000539437.1																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	22						c.(160-162)gCg>gTg		milk fat globule-EGF factor 8 protein		G	VAL/ALA,VAL/ALA	4,4396	6.2+/-15.9	0,4,2196	166	129	142		185,185	-6	0	15	dbSNP_126	142	10,8588	7.7+/-29.5	0,10,4289	yes	missense,missense	MFGE8	NM_001114614.1,NM_005928.2	64,64	0,14,6485	AA,AG,GG		0.1163,0.0909,0.1077	benign,benign	62/336,62/388	89453043	14,12984	2200	4299	6499	SO:0001583	missense	4240				angiogenesis|cell adhesion|interspecies interaction between organisms|single fertilization			g.chr15:89453043G>A	U58516	CCDS10347.1, CCDS45345.1	15q25	2009-03-25			ENSG00000140545	ENSG00000140545			7036	protein-coding gene	gene with protein product	"sperm surface protein hP47"	602281	"sperm associated antigen 10"	SPAG10		9027496, 19204935	Standard	NM_005928		Approved	SED1, EDIL1, BA46, OAcGD3S, HsT19888, MFG-E8, hP47	uc002bng.4	Q08431	OTTHUMG00000148682	ENST00000566497.1:c.185C>T	15.37:g.89453043G>A	ENSP00000456281:p.Ala62Val					MFGE8_ENST00000542878.1_Intron|MFGE8_ENST00000268151.7_Missense_Mutation_p.A62V|MFGE8_ENST00000559997.1_Intron|MFGE8_ENST00000268150.8_Missense_Mutation_p.A62V|MFGE8_ENST00000566497.1_Missense_Mutation_p.A62V	p.A54V			Q08431	MFGM_HUMAN			3	297	-	Lung NSC(78;0.0392)|all_lung(78;0.077)		62			EGF-like.		B2R6M7|Q53FU9|Q7Z3D2|Q9BTL9	Missense_Mutation	SNP	ENST00000566497.1	37	c.161C>T	CCDS10347.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	12.88	2.069097	0.36470	9.09E-4	0.001163	ENSG00000140545	ENST00000268150;ENST00000268151;ENST00000539437	D;D;D	0.92545	-3.06;-3.06;-3.06	5.39	-6.03	0.02185	EGF (1);Epidermal growth factor-like (1);EGF-like region, conserved site (1);Epidermal growth factor-like, type 3 (1);	0.864442	0.10595	N	0.656338	T	0.76891	0.4051	N	0.11131	0.1	0.09310	N	1	B;B;B;B	0.27140	0.075;0.169;0.005;0.028	B;B;B;B	0.22386	0.039;0.017;0.004;0.022	T	0.66548	-0.5896	10	0.20519	T	0.43	-0.113	6.3419	0.21327	0.3322:0.0:0.5003:0.1675	rs34449331	54;54;62;62	B3KTQ2;F5H7N9;Q08431-3;Q08431	.;.;.;MFGM_HUMAN	V	62;62;54	ENSP00000268150:A62V;ENSP00000268151:A62V;ENSP00000442386:A54V	ENSP00000268150:A62V	A	-	2	0	MFGE8	87254047	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.189000	0.17037	-0.550000	0.06183	-0.459000	0.05422	GCG		0.557	MFGE8-015	NOVEL	alternative_3_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000432804.1	NM_005928		5	130	0	0	0	1	0	5	130					A	89453043	G	A	89453043	3	1	111	1	0	0	0	0	1	0	0	0	9520	1087	38	1	1006	1	MFGE8	15	89453043	Missense_Mutation	SNP	G	TCGA-EJ-A46B-01A-31D-A257-08		89453043	13078349	4	6046											
TELO2	9894	broad.mit.edu	37	chr16	1550606	1550606	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggcgtgaagtgccgcctggAcagtagcctgccccccgtgc	5	6	15	15	3	0	1	0	1	0	0	0	2	0	2	6	2	4	1	6	2	2	1			TCGA-EJ-A46B-01A-31D-A257-08	TCGA-EJ-A46B-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71680fa7-bf45-4381-828f-0cc1f73a13c6	94207d64-f627-4ce4-b463-6ea128d2ad79	g.chr16:1550606A>G	ENST00000262319.6	+	9	1466	c.1187A>G	c.(1186-1188)gAc>gGc	p.D396G		NM_016111.3	NP_057195.2	Q9Y4R8	TELO2_HUMAN	telomere maintenance 2	396					regulation of TOR signaling (GO:0032006)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|intracellular (GO:0005622)|membrane (GO:0016020)|nucleus (GO:0005634)|TORC1 complex (GO:0031931)|TORC2 complex (GO:0031932)	protein complex binding (GO:0032403)			NS(1)|endometrium(1)|kidney(5)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	19		Hepatocellular(780;0.219)				TGCCGCCTGGACAGTAGCCTG	0.701																																						ENST00000262319.6																			0				NS(1)|endometrium(1)|kidney(5)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	19						c.(1186-1188)gAc>gGc		telomere maintenance 2							30	33	32					16																	1550606		2196	4297	6493	SO:0001583	missense	9894					chromosome, telomeric region|cytoplasm|membrane|nucleus	protein binding	g.chr16:1550606A>G	AL080126	CCDS32363.1	16p13.3	2013-08-06	2013-08-06		ENSG00000100726	ENSG00000100726			29099	protein-coding gene	gene with protein product		611140	"TEL2, telomere maintenance 2, homolog (S. cerevisiae)"			9734811, 11230166, 12670948	Standard	NM_016111		Approved	KIAA0683, hCLK2, TEL2	uc002cly.3	Q9Y4R8	OTTHUMG00000044471	ENST00000262319.6:c.1187A>G	16.37:g.1550606A>G	ENSP00000262319:p.Asp396Gly						p.D396G	NM_016111.3	NP_057195.2	Q9Y4R8	TELO2_HUMAN			9	1466	+		Hepatocellular(780;0.219)	396					D3DU73|O75168|Q7LDV4|Q9BR21	Missense_Mutation	SNP	ENST00000262319.6	37	c.1187A>G	CCDS32363.1	.	.	.	.	.	.	.	.	.	.	a	23.4	4.406855	0.83230	.	.	ENSG00000100726	ENST00000437914;ENST00000262319	D	0.84660	-1.88	4.93	4.93	0.64822	.	0.044947	0.85682	D	0.000000	D	0.90086	0.6903	M	0.76002	2.32	0.58432	D	0.999999	D	0.76494	0.999	D	0.67103	0.949	D	0.87903	0.2692	10	0.15499	T	0.54	-36.8244	13.6054	0.62044	1.0:0.0:0.0:0.0	.	396	Q9Y4R8	TELO2_HUMAN	G	10;396	ENSP00000262319:D396G	ENSP00000262319:D396G	D	+	2	0	TELO2	1490607	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	4.877000	0.63086	1.866000	0.54105	0.529000	0.55759	GAC		0.701	TELO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103602.2	NM_016111		3	26	0	0	0	1	0	3	26					G	1550606	A	G	1550606	3	3	111	1	0	0	0	0	1	0	0	0	15754	275	10	4	1217	4	TELO2	16	1550606	Missense_Mutation	SNP	A	TCGA-EJ-A46B-01A-31D-A257-08		1550606	88804147	5	6047											
TMEM50B	757	broad.mit.edu	37	chr21	34841166	34841166	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atacattcacattctggccaAcgaaaattatctaggaagcc	15	10	6	10	1	3	0	1	0	2	0	3	2	3	1	2	2	3	0	2	2	7	5	rs201411977		TCGA-EJ-A46B-01A-31D-A257-08	TCGA-EJ-A46B-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71680fa7-bf45-4381-828f-0cc1f73a13c6	94207d64-f627-4ce4-b463-6ea128d2ad79	g.chr21:34841166A>G	ENST00000542230.2	-	2	241	c.27T>C	c.(25-27)cgT>cgC	p.R9R		NM_006134.6	NP_006125.2	P56557	TM50B_HUMAN	transmembrane protein 50B	9						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|kidney(1)|ovary(1)|skin(1)	4						ATTCTGGCCAACGAAAATTAT	0.368													A|||	1	0.000199681	0	0	5008	,	,		17183	0.001		0	False		,,,				2504	0					ENST00000542230.2																			0				breast(1)|kidney(1)|ovary(1)|skin(1)	4						c.(25-27)cgT>cgC		transmembrane protein 50B							120	110	114					21																	34841166		2203	4300	6503	SO:0001819	synonymous_variant	757					endoplasmic reticulum|integral to membrane|plasma membrane		g.chr21:34841166A>G	AF045606	CCDS13625.1	21q22.1	2008-07-29	2005-06-02	2005-06-02	ENSG00000142188	ENSG00000142188			1280	protein-coding gene	gene with protein product			"chromosome 21 open reading frame 4"	C21orf4			Standard	NR_040016		Approved		uc002yrs.2	P56557	OTTHUMG00000065286	ENST00000542230.2:c.27T>C	21.37:g.34841166A>G							p.R9R	NM_006134.6	NP_006125.2	P56557	TM50B_HUMAN			2	241	-			9					B2R4L4|D3DSF1|O60537|Q5PY47	Silent	SNP	ENST00000542230.2	37	c.27T>C	CCDS13625.1																																																																																				0.368	TMEM50B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000140080.5			4	88	0	0	0	1	0	4	88					G	34841166	A	G	34841166	2	3	111	1	0	0	0	0	0	0	0	1	16173	30	2	4		4	TMEM50B	21	34841166	Silent	SNP	A	TCGA-EJ-A46B-01A-31D-A257-08		34841166	13288729	6	6048											
ANXA4	307	broad.mit.edu	37	chr2	70045734	70045734	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tttgttattgtctgcagtgtTtgatgaatacaaaaggatat	12	17	9	3	0	1	2	0	2	1	0	1	3	1	3	0	1	2	3	0	1	6	6			TCGA-EJ-A46D-01A-21D-A257-08	TCGA-EJ-A46D-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bfa7723-1fe3-42f2-8575-70305679ac12	35d8332c-f08f-40f6-9484-3b17a3081894	g.chr2:70045734T>G	ENST00000394295.4	+	10	880	c.632T>G	c.(631-633)tTt>tGt	p.F211C	ANXA4_ENST00000536030.1_Missense_Mutation_p.F127C|ANXA4_ENST00000409920.1_Missense_Mutation_p.F189C	NM_001153.3	NP_001144.1	P09525	ANXA4_HUMAN	annexin A4	209					epithelial cell differentiation (GO:0030855)|negative regulation of apoptotic process (GO:0043066)|negative regulation of catalytic activity (GO:0043086)|negative regulation of interleukin-8 secretion (GO:2000483)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|vesicle membrane (GO:0012506)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|calcium-dependent protein binding (GO:0048306)|identical protein binding (GO:0042802)|NF-kappaB binding (GO:0051059)|phospholipase inhibitor activity (GO:0004859)			endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)	11						TCTGCAGTGTTTGATGAATAC	0.333																																						ENST00000394295.4																			0				endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)	11						c.(631-633)tTt>tGt		annexin A4							98	97	97					2																	70045734		2203	4300	6503	SO:0001583	missense	307				anti-apoptosis|signal transduction	cytoplasm	calcium ion binding|calcium-dependent phospholipid binding|phospholipase inhibitor activity	g.chr2:70045734T>G	M82809	CCDS1894.1	2p13.3	2008-02-05			ENSG00000196975	ENSG00000196975		"Annexins"	542	protein-coding gene	gene with protein product		106491		ANX4		1346776	Standard	NM_001153		Approved		uc002sfr.4	P09525	OTTHUMG00000129649	ENST00000394295.4:c.632T>G	2.37:g.70045734T>G	ENSP00000377833:p.Phe211Cys					ANXA4_ENST00000536030.1_Missense_Mutation_p.F127C|ANXA4_ENST00000409920.1_Missense_Mutation_p.F189C	p.F211C	NM_001153.3	NP_001144.1	P09525	ANXA4_HUMAN			10	880	+			209					B4DDF9|Q96F33|Q9BWK1	Missense_Mutation	SNP	ENST00000394295.4	37	c.632T>G	CCDS1894.1	.	.	.	.	.	.	.	.	.	.	T	21.8	4.204404	0.79127	.	.	ENSG00000196975	ENST00000409920;ENST00000394295;ENST00000536030	T;T;T	0.03831	3.79;3.79;3.79	5.75	5.75	0.90469	Annexin repeat, conserved site (1);	0.000000	0.85682	D	0.000000	T	0.26376	0.0644	M	0.88775	2.98	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.02983	-1.1086	9	.	.	.	.	13.9865	0.64339	0.0:0.0:0.0:1.0	.	209;189;211	P09525;Q6P452;Q6LES2	ANXA4_HUMAN;.;.	C	189;211;127	ENSP00000386756:F189C;ENSP00000377833:F211C;ENSP00000441931:F127C	.	F	+	2	0	ANXA4	69899238	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	7.680000	0.84062	2.183000	0.69458	0.482000	0.46254	TTT		0.333	ANXA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251848.2	NM_001153		6	76	0	0	0	1	0	6	76					G	70045734	T	G	70045734	3	3	112	1	0	0	0	0	1	0	0	0	720	1841	64	5	666	5	ANXA4	2	70045734	Missense_Mutation	SNP	T	TCGA-EJ-A46D-01A-21D-A257-08		70045734	173153639	1	6049											
UGT1A8	54658	broad.mit.edu	37	chr2	234527191	234527191	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gtggtatcaactgccatcagGgaaagccattgcctatggta	11	10	11	9	0	2	0	2	0	0	0	2	1	2	1	3	3	4	2	3	3	5	4			TCGA-EJ-A46D-01A-21D-A257-08	TCGA-EJ-A46D-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bfa7723-1fe3-42f2-8575-70305679ac12	35d8332c-f08f-40f6-9484-3b17a3081894	g.chr2:234527191G>T	ENST00000373450.4	+	1	901	c.838G>T	c.(838-840)Gga>Tga	p.G280*		NM_019076.4	NP_061949.3	P22309	UD11_HUMAN	UDP glucuronosyltransferase 1 family, polypeptide A1	283					acute-phase response (GO:0006953)|bilirubin conjugation (GO:0006789)|biphenyl catabolic process (GO:0070980)|cellular glucuronidation (GO:0052695)|cellular response to ethanol (GO:0071361)|cellular response to glucocorticoid stimulus (GO:0071385)|digestion (GO:0007586)|drug metabolic process (GO:0017144)|estrogen metabolic process (GO:0008210)|flavone metabolic process (GO:0051552)|flavonoid glucuronidation (GO:0052696)|heme catabolic process (GO:0042167)|heterocycle metabolic process (GO:0046483)|liver development (GO:0001889)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cellular glucuronidation (GO:2001030)|negative regulation of steroid metabolic process (GO:0045939)|organ regeneration (GO:0031100)|porphyrin-containing compound metabolic process (GO:0006778)|response to drug (GO:0042493)|response to lipopolysaccharide (GO:0032496)|response to nutrient (GO:0007584)|response to starvation (GO:0042594)|retinoic acid metabolic process (GO:0042573)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|xenobiotic glucuronidation (GO:0052697)|xenobiotic metabolic process (GO:0006805)	cytochrome complex (GO:0070069)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)	enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|glucuronosyltransferase activity (GO:0015020)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|retinoic acid binding (GO:0001972)|steroid binding (GO:0005496)			breast(1)|central_nervous_system(2)|endometrium(7)|large_intestine(5)|lung(9)|skin(4)|urinary_tract(2)	30		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;4.1e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000435)|Lung(119;0.00211)|LUSC - Lung squamous cell carcinoma(224;0.0054)	Abacavir(DB01048)|Acetaminophen(DB00316)|Adenine(DB00173)|Atorvastatin(DB01076)|Axitinib(DB06626)|Diclofenac(DB00586)|Dolutegravir(DB08930)|Eltrombopag(DB06210)|Erlotinib(DB00530)|Estradiol(DB00783)|Etoposide(DB00773)|Ezetimibe(DB00973)|Ezogabine(DB04953)|Flunitrazepam(DB01544)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Ibuprofen(DB01050)|Indacaterol(DB05039)|Indomethacin(DB00328)|Irinotecan(DB00762)|Losartan(DB00678)|Lovastatin(DB00227)|Morphine(DB00295)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Naltrexone(DB00704)|Naproxen(DB00788)|Nilotinib(DB04868)|Pazopanib(DB06589)|Propofol(DB00818)|Raltegravir(DB06817)|Regorafenib(DB08896)|Rifampicin(DB01045)|Simvastatin(DB00641)|Sorafenib(DB00398)|Suprofen(DB00870)|Testosterone Propionate(DB01420)	CTGCCATCAGGGAAAGCCATT	0.403																																						ENST00000373450.4																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(3)	30						c.(838-840)Gga>Tga									192	187	188					2																	234527191		2203	4299	6502	SO:0001587	stop_gained	0							g.chr2:234527191G>T	M57899	CCDS2510.1	2q37.1	2014-09-17	2005-07-20		ENSG00000242366	ENSG00000242366	2.4.1.17	"UDP glucuronosyltransferases"	12530	other	complex locus constituent		191740	"UDP glycosyltransferase 1 family, polypeptide A1"	UGT1, GNT1		9295054, 9535849	Standard	NM_000463		Approved	UGT1A		P22309	OTTHUMG00000059117	ENST00000373450.4:c.838G>T	2.37:g.234527191G>T	ENSP00000362549:p.Gly280*						p.G280*	NM_019076.4	NP_061949.3				Epithelial(121;2.56e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000482)|Lung(119;0.00404)|LUSC - Lung squamous cell carcinoma(224;0.008)	1	901	+		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0334)|Lung NSC(271;0.0461)|Lung SC(224;0.128)						A6NJC3|B8K286	Nonsense_Mutation	SNP	ENST00000373450.4	37	c.838G>T	CCDS33402.1	.	.	.	.	.	.	.	.	.	.	G	25.1	4.603991	0.87157	.	.	ENSG00000242366	ENST00000373450	.	.	.	3.96	-0.276	0.12902	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.32370	T	0.25	.	4.3206	0.11015	0.4188:0.3292:0.252:0.0	.	.	.	.	X	280	.	ENSP00000362549:G280X	G	+	1	0	UGT1A8	234191930	0.000000	0.05858	0.002000	0.10522	0.068000	0.16541	-1.223000	0.02962	-0.155000	0.11098	0.505000	0.49811	GGA		0.403	UGT1A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000130994.1			13	270	1	0	7.93312e-07	1	9.31279e-07	13	270					T	234527191	G	T	234527191	4	4	112	1	0	0	0	0	0	1	0	0	16948	1233	43	5	840	5	UGT1A8	2	234527191	Nonsense_Mutation	SNP	G	TCGA-EJ-A46D-01A-21D-A257-08	164481457	234527191	8672182	2	6050											
SLC6A20	54716	broad.mit.edu	37	chr3	45812921	45812921	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	atctgggtggctgcattgatCcaggccttggggttggccag	5	11	16	9	0	1	1	0	1	1	0	2	1	2	1	3	6	1	3	3	6	0	3			TCGA-EJ-A46D-01A-21D-A257-08	TCGA-EJ-A46D-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bfa7723-1fe3-42f2-8575-70305679ac12	35d8332c-f08f-40f6-9484-3b17a3081894	g.chr3:45812921C>A	ENST00000358525.4	-	6	838	c.723G>T	c.(721-723)tgG>tgT	p.W241C	SLC6A20_ENST00000456124.2_Missense_Mutation_p.W241C|SLC6A20_ENST00000353278.4_Missense_Mutation_p.W204C	NM_020208.3	NP_064593.1	Q9NP91	S6A20_HUMAN	solute carrier family 6 (proline IMINO transporter), member 20	241					amino acid transmembrane transport (GO:0003333)|amino acid transport (GO:0006865)|glycine transport (GO:0015816)|ion transport (GO:0006811)|proline transport (GO:0015824)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	amino acid transmembrane transporter activity (GO:0015171)|neurotransmitter:sodium symporter activity (GO:0005328)			breast(1)|endometrium(1)|large_intestine(6)|ovary(2)|skin(2)|urinary_tract(1)	13				BRCA - Breast invasive adenocarcinoma(193;0.01)|KIRC - Kidney renal clear cell carcinoma(197;0.0225)|Kidney(197;0.0267)		CTGCATTGATCCAGGCCTTGG	0.587																																						ENST00000358525.4																			0				breast(1)|endometrium(1)|large_intestine(6)|ovary(2)|skin(2)|urinary_tract(1)	13						c.(721-723)tgG>tgT		solute carrier family 6 (proline IMINO transporter), member 20							115	100	105					3																	45812921		2203	4300	6503	SO:0001583	missense	54716				cellular nitrogen compound metabolic process|glycine transport|proline transport	apical plasma membrane|integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity	g.chr3:45812921C>A	AF075260	CCDS2730.1, CCDS43077.1	3p21.6	2013-05-22			ENSG00000163817	ENSG00000163817		"Solute carriers"	30927	protein-coding gene	gene with protein product		605616				9932288, 11352561	Standard	NM_022405		Approved	XT3, Xtrp3	uc011bai.2	Q9NP91	OTTHUMG00000133446	ENST00000358525.4:c.723G>T	3.37:g.45812921C>A	ENSP00000346298:p.Trp241Cys					SLC6A20_ENST00000456124.2_Missense_Mutation_p.W241C|SLC6A20_ENST00000353278.4_Missense_Mutation_p.W204C	p.W241C	NM_020208.3	NP_064593.1	Q9NP91	S6A20_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.01)|KIRC - Kidney renal clear cell carcinoma(197;0.0225)|Kidney(197;0.0267)	6	838	-			241					A1A4F2|O75590|Q8TF10|Q9NPQ2|Q9NQ77	Missense_Mutation	SNP	ENST00000358525.4	37	c.723G>T	CCDS43077.1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.354816	0.82243	.	.	ENSG00000163817	ENST00000353278;ENST00000358525;ENST00000456124;ENST00000413781	D;D;D;D	0.86497	-2.13;-2.13;-2.13;-2.13	5.05	5.05	0.67936	.	0.000000	0.85682	D	0.000000	D	0.95708	0.8604	H	0.95437	3.67	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.97109	0.9803	10	0.87932	D	0	.	18.4034	0.90525	0.0:1.0:0.0:0.0	.	204;241	Q9NP91-2;Q9NP91	.;S6A20_HUMAN	C	204;241;241;194	ENSP00000296133:W204C;ENSP00000346298:W241C;ENSP00000404310:W241C;ENSP00000395506:W194C	ENSP00000296133:W204C	W	-	3	0	SLC6A20	45787925	1.000000	0.71417	1.000000	0.80357	0.908000	0.53690	7.784000	0.85713	2.342000	0.79632	0.467000	0.42956	TGG		0.587	SLC6A20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257318.3	NM_020208		4	45	1	0	0.014758	1	0.0166027	4	45					A	45812921	C	A	45812921	3	1	112	1	0	0	0	0	1	0	0	0	14684	856	30	5	1079	5	SLC6A20	3	45812921	Missense_Mutation	SNP	C	TCGA-EJ-A46D-01A-21D-A257-08		45812921	152209509	3	6051											
RBM6	10180	broad.mit.edu	37	chr3	50005401	50005401	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcaggggccggggcacttaTgatttagattttagaggccg	8	12	14	7	2	1	3	1	1	0	2	1	3	1	3	2	5	0	1	2	5	3	6			TCGA-EJ-A46D-01A-21D-A257-08	TCGA-EJ-A46D-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bfa7723-1fe3-42f2-8575-70305679ac12	35d8332c-f08f-40f6-9484-3b17a3081894	g.chr3:50005401T>C	ENST00000266022.4	+	3	802	c.543T>C	c.(541-543)taT>taC	p.Y181Y	RBM6_ENST00000422955.1_Intron|RBM6_ENST00000441115.1_Intron|RBM6_ENST00000443081.1_Silent_p.Y49Y|RBM6_ENST00000539992.1_Intron|RBM6_ENST00000442092.1_Intron	NM_005777.2	NP_005768.1	P78332	RBM6_HUMAN	RNA binding motif protein 6	181					RNA processing (GO:0006396)	nucleus (GO:0005634)	DNA binding (GO:0003677)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|skin(4)|urinary_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;6.81e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0084)|Kidney(197;0.00977)		GGGGCACTTATGATTTAGATT	0.498																																						ENST00000443081.1																			0				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|skin(4)|urinary_tract(1)	33						c.(145-147)taT>taC		RNA binding motif protein 6							46	49	48					3																	50005401		2203	4300	6503	SO:0001819	synonymous_variant	10180				RNA processing	nucleus	DNA binding|nucleotide binding|RNA binding|zinc ion binding	g.chr3:50005401T>C	AF069517	CCDS2809.1, CCDS54586.1	3p21.3	2013-01-28			ENSG00000004534	ENSG00000004534		"RNA binding motif (RRM) containing", "G patch domain containing"	9903	protein-coding gene	gene with protein product		606886				10352938	Standard	NM_001167582		Approved	DEF-3, 3G2, NY-LU-12, g16, DEF3	uc003cyc.3	P78332	OTTHUMG00000156736	ENST00000266022.4:c.543T>C	3.37:g.50005401T>C						RBM6_ENST00000266022.4_Silent_p.Y181Y|RBM6_ENST00000422955.1_Intron|RBM6_ENST00000442092.1_Intron|RBM6_ENST00000441115.1_Intron|RBM6_ENST00000539992.1_Intron	p.Y49Y			P78332	RBM6_HUMAN		BRCA - Breast invasive adenocarcinoma(193;6.81e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0084)|Kidney(197;0.00977)	3	1066	+			181					O60549|O75524|Q86SS3	Silent	SNP	ENST00000266022.4	37	c.147T>C	CCDS2809.1																																																																																				0.498	RBM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345528.4	NM_005777		6	53	0	0	0	1	0	6	53					C	50005401	T	C	50005401	2	2	112	1	0	0	0	0	0	0	0	1	13144	1471	51	4		4	RBM6	3	50005401	Silent	SNP	T	TCGA-EJ-A46D-01A-21D-A257-08	4192480	50005401	148017029	4	6052											
WDFY3	23001	broad.mit.edu	37	chr4	85758212	85758212	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atttaaccagggtggaaggcActgacattgttgtcatgcag	11	11	12	7	0	1	1	1	1	0	0	1	2	1	2	1	3	2	3	1	3	2	4			TCGA-EJ-A46D-01A-21D-A257-08	TCGA-EJ-A46D-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bfa7723-1fe3-42f2-8575-70305679ac12	35d8332c-f08f-40f6-9484-3b17a3081894	g.chr4:85758212A>G	ENST00000295888.4	-	7	853	c.446T>C	c.(445-447)gTg>gCg	p.V149A	WDFY3_ENST00000322366.6_Missense_Mutation_p.V149A	NM_014991.4	NP_055806.2	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	149					aggrephagy (GO:0035973)|positive regulation of macroautophagy (GO:0016239)	autophagic vacuole (GO:0005776)|cytoplasm (GO:0005737)|extrinsic component of membrane (GO:0019898)|inclusion body (GO:0016234)|nuclear envelope (GO:0005635)|PML body (GO:0016605)	1-phosphatidylinositol binding (GO:0005545)|beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity (GO:0003831)|metal ion binding (GO:0046872)			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		GGTGGAAGGCACTGACATTGT	0.413																																						ENST00000322366.6																			0				breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						c.(445-447)gTg>gCg		WD repeat and FYVE domain containing 3							80	72	75					4																	85758212		2203	4300	6503	SO:0001583	missense	23001					cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding	g.chr4:85758212A>G	AB023210	CCDS3609.1	4q21.3	2013-01-09			ENSG00000163625	ENSG00000163625		"Zinc fingers, FYVE domain containing", "WD repeat domain containing"	20751	protein-coding gene	gene with protein product						10231032	Standard	NM_014991		Approved	KIAA0993, ALFY, ZFYVE25	uc003hpd.3	Q8IZQ1	OTTHUMG00000130424	ENST00000295888.4:c.446T>C	4.37:g.85758212A>G	ENSP00000295888:p.Val149Ala					WDFY3_ENST00000295888.4_Missense_Mutation_p.V149A	p.V149A			Q8IZQ1	WDFY3_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000808)	7	853	-		Hepatocellular(203;0.114)	149					Q4W5K5|Q6P0Q5|Q8N1T2|Q8NAV6|Q96BS7|Q96D33|Q96N85|Q9Y2J7	Missense_Mutation	SNP	ENST00000295888.4	37	c.446T>C	CCDS3609.1	.	.	.	.	.	.	.	.	.	.	A	27.3	4.819629	0.90873	.	.	ENSG00000163625	ENST00000322366;ENST00000295888	T;T	0.18016	2.24;2.24	5.76	5.76	0.90799	.	0.058843	0.64402	D	0.000002	T	0.28632	0.0709	M	0.66939	2.045	0.80722	D	1	D;D	0.58620	0.962;0.983	P;P	0.47673	0.554;0.55	T	0.04216	-1.0968	10	0.87932	D	0	.	16.0697	0.80914	1.0:0.0:0.0:0.0	.	149;149	E2QRK8;Q8IZQ1	.;WDFY3_HUMAN	A	149	ENSP00000318466:V149A;ENSP00000295888:V149A	ENSP00000295888:V149A	V	-	2	0	WDFY3	85977236	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.157000	0.94714	2.190000	0.69967	0.374000	0.22700	GTG		0.413	WDFY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252811.2	NM_014991		6	45	0	0	0	1	0	6	45					G	85758212	A	G	85758212	3	3	112	1	0	0	0	0	1	0	0	0	17267	159	6	4	10425	4	WDFY3	4	85758212	Missense_Mutation	SNP	A	TCGA-EJ-A46D-01A-21D-A257-08		85758212	105396064	5	6053											
PEX6	5190	broad.mit.edu	37	chr6	42946850	42946851	+	Frame_Shift_Ins	INS	-	-	G																															ccaacgggggtgtctcggtcINSggaaagggctccaggacccg																										TCGA-EJ-A46D-01A-21D-A257-08	TCGA-EJ-A46D-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bfa7723-1fe3-42f2-8575-70305679ac12	35d8332c-f08f-40f6-9484-3b17a3081894	g.chr6:42946850_42946851insG	ENST00000304611.8	-	1	107_108	c.38_39insC	c.(37-39)ccgfs	p.P13fs	PEX6_ENST00000244546.4_Frame_Shift_Ins_p.P13fs	NM_000287.3	NP_000278.3	Q13608	PEX6_HUMAN	peroxisomal biogenesis factor 6	13					ATP catabolic process (GO:0006200)|peroxisome organization (GO:0007031)|protein import into peroxisome matrix, translocation (GO:0016561)|protein stabilization (GO:0050821)|protein targeting to peroxisome (GO:0006625)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled (GO:0042623)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)			NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(3)	15			all cancers(41;0.00235)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.0562)			GTGTCTCGGTCGGAAAGGGCTC	0.708																																						ENST00000304611.8																			0				NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(3)	15						c.(37-39)cacfs		peroxisomal biogenesis factor 6																																				SO:0001589	frameshift_variant	5190				protein import into peroxisome matrix, translocation|protein stabilization	cytosol|peroxisomal membrane	ATP binding|ATPase activity, coupled|protein C-terminus binding|protein complex binding	g.chr6:42946850_42946851insG	U56602	CCDS4877.1	6p22-p11	2010-04-21			ENSG00000124587	ENSG00000124587		"ATPases / AAA-type"	8859	protein-coding gene	gene with protein product		601498				8670792	Standard	NM_000287		Approved	PXAAA1, PAF-2	uc003otf.3	Q13608	OTTHUMG00000014713	ENST00000304611.8:c.39dupC	6.37:g.42946852_42946852dupG	ENSP00000303511:p.Pro13fs					PEX6_ENST00000244546.4_Frame_Shift_Ins_p.H13fs	p.H13fs	NM_000287.3	NP_000278.3	Q13608	PEX6_HUMAN	all cancers(41;0.00235)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.0562)		1	107_108	-			13					Q5T8W1|Q8WYQ0|Q8WYQ1|Q8WYQ2|Q99476	Frame_Shift_Ins	INS	ENST00000304611.8	37	c.38_39insC	CCDS4877.1																																																																																				0.708	PEX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040569.1	NM_000287		2	4						2	4	---	---	---	---	G	42946851	-	G	42946850	7	5	112	1	0	1	1	0	0	0	0	0	11750	871	31	0	2971	0	PEX6	6	42946850	Frame_Shift_Ins	INS	-	TCGA-EJ-A46D-01A-21D-A257-08		42946850	128168217	6	6054											
HTR1E	3354	broad.mit.edu	37	chr6	87726042	87726042	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagtggccgactttctgacGtggctcggttatgtgaattc	7	13	13	8	3	1	2	0	2	1	0	3	4	1	2	1	3	0	2	1	3	3	3	rs141247281	byFrequency	TCGA-EJ-A46D-01A-21D-A257-08	TCGA-EJ-A46D-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bfa7723-1fe3-42f2-8575-70305679ac12	35d8332c-f08f-40f6-9484-3b17a3081894	g.chr6:87726042G>A	ENST00000305344.5	+	2	1693	c.990G>A	c.(988-990)acG>acA	p.T330T		NM_000865.2	NP_000856.1	P28566	5HT1E_HUMAN	5-hydroxytryptamine (serotonin) receptor 1E, G protein-coupled	330					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|negative regulation of cAMP metabolic process (GO:0030815)|serotonin receptor signaling pathway (GO:0007210)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)			breast(3)|endometrium(2)|kidney(3)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(3)	41		all_cancers(76;7.11e-06)|Acute lymphoblastic leukemia(125;1.2e-09)|Prostate(29;3.51e-09)|all_hematologic(105;7.43e-06)|all_epithelial(107;0.00819)		BRCA - Breast invasive adenocarcinoma(108;0.055)	Aripiprazole(DB01238)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Ketamine(DB01221)|Loxapine(DB00408)|Methysergide(DB00247)|Olanzapine(DB00334)|Quetiapine(DB01224)|Ziprasidone(DB00246)	ACTTTCTGACGTGGCTCGGTT	0.448																																						ENST00000305344.4																			0				breast(3)|endometrium(2)|kidney(3)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(3)	41						c.(988-990)acG>acA		5-hydroxytryptamine (serotonin) receptor 1E, G protein-coupled	Eletriptan(DB00216)	G		0,4406		0,0,2203	140	148	145		990	-2.6	1	6	dbSNP_134	145	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	HTR1E	NM_000865.2		0,2,6501	AA,AG,GG		0.0233,0.0,0.0154		330/366	87726042	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	3354				G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	protein binding|serotonin binding|serotonin receptor activity	g.chr6:87726042G>A		CCDS5006.1	6q14-q15	2013-06-19	2012-02-03		ENSG00000168830	ENSG00000168830		"5-HT (serotonin) receptors", "GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"	5291	protein-coding gene	gene with protein product		182132	"5-hydroxytryptamine (serotonin) receptor 1E"			1608964	Standard	NM_000865		Approved	5-HT1E	uc003pli.3	P28566	OTTHUMG00000015154	ENST00000305344.5:c.990G>A	6.37:g.87726042G>A						HTR1E_ENST00000369584.1_Silent_p.T330T	p.T330T	NM_000865.2	NP_000856.1	P28566	5HT1E_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.055)	2	1693	+		all_cancers(76;7.11e-06)|Acute lymphoblastic leukemia(125;1.2e-09)|Prostate(29;3.51e-09)|all_hematologic(105;7.43e-06)|all_epithelial(107;0.00819)	330					E1P503|Q9P1Y1	Silent	SNP	ENST00000305344.5	37	c.990G>A	CCDS5006.1																																																																																				0.448	HTR1E-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000472488.2	NM_000865		14	147	0	0	0	1	0	14	147					A	87726042	G	A	87726042	2	1	112	1	0	0	0	0	0	0	0	1	7439	1132	40	1		1	HTR1E	6	87726042	Silent	SNP	G	TCGA-EJ-A46D-01A-21D-A257-08	44779192	87726042	83389025	7	6055											
COQ3	51805	broad.mit.edu	37	chr6	99817564	99817564	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cctttaaaacaaactcagcaGaggctgggtgttcctggacc	11	9	10	11	0	1	1	1	0	0	1	2	2	2	2	3	3	3	3	3	3	3	3			TCGA-EJ-A46D-01A-21D-A257-08	TCGA-EJ-A46D-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bfa7723-1fe3-42f2-8575-70305679ac12	35d8332c-f08f-40f6-9484-3b17a3081894	g.chr6:99817564G>A	ENST00000254759.3	-	7	1046	c.1022C>T	c.(1021-1023)tCt>tTt	p.S341F	COQ3_ENST00000369240.1_Missense_Mutation_p.S113F|COQ3_ENST00000369242.1_Missense_Mutation_p.S113F	NM_017421.3	NP_059117.3	Q9NZJ6	COQ3_HUMAN	coenzyme Q3 methyltransferase	341					glycerol metabolic process (GO:0006071)|small molecule metabolic process (GO:0044281)|ubiquinone biosynthetic process (GO:0006744)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	2-polyprenyl-6-methoxy-1,4-benzoquinone methyltransferase activity (GO:0008425)|3-demethylubiquinone-9 3-O-methyltransferase activity (GO:0008689)|hexaprenyldihydroxybenzoate methyltransferase activity (GO:0004395)|O-methyltransferase activity (GO:0008171)			cervix(1)|lung(5)|upper_aerodigestive_tract(2)	8		all_cancers(76;1.24e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.00716)|Colorectal(196;0.0691)|Lung NSC(302;0.186)		BRCA - Breast invasive adenocarcinoma(108;0.0625)		AAACTCAGCAGAGGCTGGGTG	0.453																																						ENST00000254759.3																			0				cervix(1)|lung(5)|upper_aerodigestive_tract(2)	8						c.(1021-1023)tCt>tTt		coenzyme Q3 methyltransferase							154	156	155					6																	99817564		2203	4300	6503	SO:0001583	missense	51805				glycerol metabolic process|ubiquinone biosynthetic process	mitochondrial matrix	2-polyprenyl-6-methoxy-1,4-benzoquinone methyltransferase activity|3-demethylubiquinone-9 3-O-methyltransferase activity|hexaprenyldihydroxybenzoate methyltransferase activity	g.chr6:99817564G>A	AF193016	CCDS5042.1	6q21	2013-05-01	2013-05-01		ENSG00000132423	ENSG00000132423	2.1.1.114		18175	protein-coding gene	gene with protein product	"polyprenyldihydroxybenzoate methyltransferase"	605196	"coenzyme Q3 homolog, methyltransferase (yeast)", "coenzyme Q3 homolog, methyltransferase (S. cerevisiae)"			10777520	Standard	NM_017421		Approved	bA9819.1	uc003ppk.3	Q9NZJ6	OTTHUMG00000015264	ENST00000254759.3:c.1022C>T	6.37:g.99817564G>A	ENSP00000254759:p.Ser341Phe					COQ3_ENST00000369242.1_Missense_Mutation_p.S113F|COQ3_ENST00000369240.1_Missense_Mutation_p.S113F	p.S341F	NM_017421.3	NP_059117.3	Q9NZJ6	COQ3_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0625)	7	1046	-		all_cancers(76;1.24e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.00716)|Colorectal(196;0.0691)|Lung NSC(302;0.186)	341					B3KPX0|Q5T061|Q6P4F0|Q8IXG6|Q96BG1|Q9H0N1	Missense_Mutation	SNP	ENST00000254759.3	37	c.1022C>T	CCDS5042.1	.	.	.	.	.	.	.	.	.	.	G	15.14	2.745326	0.49151	.	.	ENSG00000132423	ENST00000254759;ENST00000369242;ENST00000369240	T;T;T	0.32272	1.87;1.46;1.46	4.66	2.84	0.33178	.	0.597498	0.18482	N	0.139890	T	0.09512	0.0234	N	0.22421	0.69	0.09310	N	1	P	0.49559	0.925	P	0.44811	0.461	T	0.06023	-1.0850	10	0.87932	D	0	-21.7504	5.7127	0.17943	0.0774:0.1368:0.6442:0.1415	.	341	Q9NZJ6	COQ3_HUMAN	F	341;113;113	ENSP00000254759:S341F;ENSP00000358245:S113F;ENSP00000358243:S113F	ENSP00000254759:S341F	S	-	2	0	COQ3	99924285	0.049000	0.20398	0.149000	0.22428	0.035000	0.12851	2.532000	0.45659	0.639000	0.30564	0.650000	0.86243	TCT		0.453	COQ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041602.1	NM_017421		21	151	0	0	0	1	0	21	151					A	99817564	G	A	99817564	3	1	112	1	0	0	0	0	1	0	0	0	3746	942	33	3	91	3	COQ3	6	99817564	Missense_Mutation	SNP	G	TCGA-EJ-A46D-01A-21D-A257-08	12091522	99817564	71297503	8	6056											
PEX3	8504	broad.mit.edu	37	chr6	143780272	143780272	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agaaaatcagagaaatacagGaaagggaggctgcagaatac	20	4	12	5	0	1	3	1	0	0	3	1	6	1	5	0	3	3	2	0	3	7	2			TCGA-EJ-A46D-01A-21D-A257-08	TCGA-EJ-A46D-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bfa7723-1fe3-42f2-8575-70305679ac12	35d8332c-f08f-40f6-9484-3b17a3081894	g.chr6:143780272G>T	ENST00000367591.4	+	2	187	c.124G>T	c.(124-126)Gaa>Taa	p.E42*		NM_003630.2	NP_003621.1	P56589	PEX3_HUMAN	peroxisomal biogenesis factor 3	42	Targeting to peroxisomes.				peroxisome membrane biogenesis (GO:0016557)|peroxisome organization (GO:0007031)|protein import into peroxisome membrane (GO:0045046)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|integral component of peroxisomal membrane (GO:0005779)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)|protein complex (GO:0043234)|protein-lipid complex (GO:0032994)	lipid binding (GO:0008289)|protein dimerization activity (GO:0046983)			endometrium(1)|large_intestine(9)|lung(4)|ovary(2)|skin(2)	18				OV - Ovarian serous cystadenocarcinoma(155;5.73e-06)|GBM - Glioblastoma multiforme(68;0.0117)		AGAAATACAGGAAAGGGAGGC	0.348																																						ENST00000367591.4																			0				endometrium(1)|large_intestine(9)|lung(4)|ovary(2)|skin(2)	18						c.(124-126)Gaa>Taa		peroxisomal biogenesis factor 3							105	102	103					6																	143780272		2203	4300	6503	SO:0001587	stop_gained	8504				protein import into peroxisome membrane|transmembrane transport	integral to peroxisomal membrane	protein binding	g.chr6:143780272G>T	AJ001625	CCDS5199.1	6q24.2	2008-05-15			ENSG00000034693	ENSG00000034693			8858	protein-coding gene	gene with protein product		603164				9657383	Standard	NM_003630		Approved		uc003qjl.3	P56589	OTTHUMG00000015730	ENST00000367591.4:c.124G>T	6.37:g.143780272G>T	ENSP00000356563:p.Glu42*						p.E42*	NM_003630.2	NP_003621.1	P56589	PEX3_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.73e-06)|GBM - Glioblastoma multiforme(68;0.0117)	2	187	+			42			Targeting to peroxisomes.		Q6FGP5	Nonsense_Mutation	SNP	ENST00000367591.4	37	c.124G>T	CCDS5199.1	.	.	.	.	.	.	.	.	.	.	G	37	6.091587	0.97276	.	.	ENSG00000034693	ENST00000367591	.	.	.	5.76	4.89	0.63831	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.27082	T	0.32	-22.5427	14.712	0.69241	0.0697:0.0:0.9303:0.0	.	.	.	.	X	42	.	ENSP00000356563:E42X	E	+	1	0	PEX3	143821965	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.398000	0.97281	1.432000	0.47375	0.591000	0.81541	GAA		0.348	PEX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042525.1			6	62	1	0	5.9392e-07	1	7.28902e-07	6	62					T	143780272	G	T	143780272	4	4	112	1	0	0	0	0	0	1	0	0	11747	1175	41	5	130	5	PEX3	6	143780272	Nonsense_Mutation	SNP	G	TCGA-EJ-A46D-01A-21D-A257-08	43962708	143780272	27334795	9	6057											
VLDLR	7436	broad.mit.edu	37	chr9	2643402	2643402	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agtccctggagcagtgtggcCgtcagccagtcatacacacc	9	7	11	14	1	2	0	2	0	0	0	3	1	3	1	4	2	3	1	4	2	1	1			TCGA-EJ-A46D-01A-21D-A257-08	TCGA-EJ-A46D-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bfa7723-1fe3-42f2-8575-70305679ac12	35d8332c-f08f-40f6-9484-3b17a3081894	g.chr9:2643402C>T	ENST00000382100.3	+	5	1047	c.691C>T	c.(691-693)Cgt>Tgt	p.R231C	RP11-125B21.2_ENST00000599229.1_RNA|VLDLR_ENST00000382099.2_Missense_Mutation_p.R231C	NM_003383.3	NP_003374.3	P98155	VLDLR_HUMAN	very low density lipoprotein receptor	231	LDL-receptor class A 5. {ECO:0000255|PROSITE-ProRule:PRU00124}.				cholesterol metabolic process (GO:0008203)|glycoprotein transport (GO:0034436)|lipid transport (GO:0006869)|memory (GO:0007613)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|positive regulation of dendrite development (GO:1900006)|positive regulation of protein kinase activity (GO:0045860)|receptor-mediated endocytosis (GO:0006898)|reelin-mediated signaling pathway (GO:0038026)|signal transduction (GO:0007165)|ventral spinal cord development (GO:0021517)|very-low-density lipoprotein particle clearance (GO:0034447)	coated pit (GO:0005905)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|very-low-density lipoprotein particle (GO:0034361)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|calcium-dependent protein binding (GO:0048306)|glycoprotein binding (GO:0001948)|glycoprotein transporter activity (GO:0034437)|low-density lipoprotein receptor activity (GO:0005041)|reelin receptor activity (GO:0038025)|very-low-density lipoprotein particle binding (GO:0034189)|very-low-density lipoprotein particle receptor activity (GO:0030229)			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	24				GBM - Glioblastoma multiforme(50;0.0668)|Lung(218;0.123)		GCAGTGTGGCCGTCAGCCAGT	0.582																																						ENST00000382100.2																			0				breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	24						c.(691-693)Cgt>Tgt		very low density lipoprotein receptor							49	42	44					9																	2643402		2203	4300	6503	SO:0001583	missense	7436				cholesterol metabolic process|endocytosis|lipid transport|memory|very-low-density lipoprotein particle clearance	coated pit|integral to membrane|membrane fraction|plasma membrane|very-low-density lipoprotein particle	apolipoprotein binding|calcium ion binding|low-density lipoprotein receptor activity|very-low-density lipoprotein particle receptor activity	g.chr9:2643402C>T		CCDS6446.1, CCDS34979.1	9p24	2014-01-24			ENSG00000147852	ENSG00000147852		"Low density lipoprotein receptors"	12698	protein-coding gene	gene with protein product		192977				8294473	Standard	XM_006716864		Approved	CARMQ1, CHRMQ1, VLDLRCH	uc003zhk.1	P98155	OTTHUMG00000019447	ENST00000382100.3:c.691C>T	9.37:g.2643402C>T	ENSP00000371532:p.Arg231Cys					VLDLR_ENST00000382099.2_Missense_Mutation_p.R231C	p.R231C	NM_003383.3	NP_003374.3	P98155	VLDLR_HUMAN		GBM - Glioblastoma multiforme(50;0.0668)|Lung(218;0.123)	5	1047	+			231			LDL-receptor class A 5.		B2RMZ7|D3DRH6|Q5VVF6	Missense_Mutation	SNP	ENST00000382100.3	37	c.691C>T	CCDS6446.1	.	.	.	.	.	.	.	.	.	.	C	33	5.207985	0.95033	.	.	ENSG00000147852	ENST00000382100;ENST00000382099;ENST00000382092	D;D	0.91011	-2.76;-2.77	5.5	5.5	0.81552	.	0.117180	0.39274	N	0.001411	D	0.92779	0.7704	M	0.69358	2.11	0.80722	D	1	D;D;D	0.71674	0.998;0.996;0.986	P;P;P	0.51945	0.685;0.487;0.487	D	0.91904	0.5534	10	0.42905	T	0.14	.	19.5916	0.95514	0.0:1.0:0.0:0.0	.	231;231;231	P98155-2;Q5VVF5;P98155	.;.;VLDLR_HUMAN	C	231;231;110	ENSP00000371532:R231C;ENSP00000371531:R231C	ENSP00000371524:R110C	R	+	1	0	VLDLR	2633402	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	5.560000	0.67332	2.861000	0.98227	0.655000	0.94253	CGT		0.582	VLDLR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051519.2	NM_003383		6	41	0	0	0	1	0	6	41					T	2643402	C	T	2643402	3	4	112	1	0	0	0	0	1	0	0	0	17171	652	23	2	709	2	VLDLR	9	2643402	Missense_Mutation	SNP	C	TCGA-EJ-A46D-01A-21D-A257-08		2643402	138570029	10	6058											
ABTB2	25841	broad.mit.edu	37	chr11	34186310	34186310	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cccatgccgtgggcctccagCatgctgaggagggggtcggc	5	6	17	13	2	0	1	0	1	0	0	2	2	1	2	4	5	3	2	4	5	0	0	rs369224575		TCGA-EJ-A46D-01A-21D-A257-08	TCGA-EJ-A46D-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bfa7723-1fe3-42f2-8575-70305679ac12	35d8332c-f08f-40f6-9484-3b17a3081894	g.chr11:34186310C>A	ENST00000435224.2	-	9	2335	c.1911G>T	c.(1909-1911)atG>atT	p.M637I	ABTB2_ENST00000298992.2_Missense_Mutation_p.M451I	NM_145804.2	NP_665803.2	Q8N961	ABTB2_HUMAN	ankyrin repeat and BTB (POZ) domain containing 2	637					cellular response to toxic substance (GO:0097237)	nucleus (GO:0005634)				breast(2)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		Acute lymphoblastic leukemia(5;0.0508)|all_hematologic(20;0.0691)				GGGCCTCCAGCATGCTGAGGA	0.627																																						ENST00000435224.2																			0				breast(2)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						c.(1909-1911)atG>atT		ankyrin repeat and BTB (POZ) domain containing 2							58	52	54					11																	34186310		2202	4298	6500	SO:0001583	missense	25841						DNA binding	g.chr11:34186310C>A	AK056863	CCDS7890.1, CCDS7890.2	11p13	2013-10-02			ENSG00000166016	ENSG00000166016		"BTB/POZ domain containing", "Ankyrin repeat domain containing"	23842	protein-coding gene	gene with protein product							Standard	NM_145804		Approved	DKFZP586C1619, BTBD22, ABTB2A	uc001mvl.2	Q8N961	OTTHUMG00000044382	ENST00000435224.2:c.1911G>T	11.37:g.34186310C>A	ENSP00000410157:p.Met637Ile					ABTB2_ENST00000298992.2_Missense_Mutation_p.M451I	p.M637I	NM_145804.2	NP_665803.2	A8K6S9	A8K6S9_HUMAN			9	2335	-		Acute lymphoblastic leukemia(5;0.0508)|all_hematologic(20;0.0691)	451					A8K6S9|E9PRW7|Q52LD6|Q6MZW4|Q8NB44	Missense_Mutation	SNP	ENST00000435224.2	37	c.1911G>T	CCDS7890.2	.	.	.	.	.	.	.	.	.	.	C	10.40	1.340467	0.24339	.	.	ENSG00000166016	ENST00000435224;ENST00000298992	T;T	0.59364	0.27;0.28	5.57	4.65	0.58169	Ankyrin repeat-containing domain (3);	0.199495	0.51477	D	0.000089	T	0.45155	0.1328	N	0.19112	0.55	0.34230	D	0.676449	B	0.02656	0.0	B	0.01281	0.0	T	0.54556	-0.8276	10	0.72032	D	0.01	-14.7159	15.7394	0.77876	0.1377:0.8623:0.0:0.0	.	451	Q8N961	ABTB2_HUMAN	I	637;451	ENSP00000410157:M637I;ENSP00000298992:M451I	ENSP00000298992:M451I	M	-	3	0	ABTB2	34142886	1.000000	0.71417	0.998000	0.56505	0.176000	0.22953	2.120000	0.41968	1.326000	0.45319	0.561000	0.74099	ATG		0.627	ABTB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388703.3	NM_145804		3	34	1	0	0.115264	1	0.119697	3	34					A	34186310	C	A	34186310	3	1	112	1	0	0	0	0	1	0	0	0	103	710	25	5	1202	5	ABTB2	11	34186310	Missense_Mutation	SNP	C	TCGA-EJ-A46D-01A-21D-A257-08		34186310	100820206	11	6059											
FBN1	2200	broad.mit.edu	37	chr15	48766566	48766566	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atgggttccattggaacattCgtccagatcttatagaaaaa	14	12	8	7	1	1	2	0	0	1	2	4	3	3	3	2	2	1	1	2	2	5	5			TCGA-EJ-A46D-01A-21D-A257-08	TCGA-EJ-A46D-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bfa7723-1fe3-42f2-8575-70305679ac12	35d8332c-f08f-40f6-9484-3b17a3081894	g.chr15:48766566C>T	ENST00000316623.5	-	34	4551	c.4096G>A	c.(4096-4098)Gaa>Aaa	p.E1366K		NM_000138.4	NP_000129	P35555	FBN1_HUMAN	fibrillin 1	1366	EGF-like 23; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.		E -> K (in MFS). {ECO:0000269|PubMed:14695540}.		extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|kidney development (GO:0001822)|sequestering of BMP in extracellular matrix (GO:0035582)|sequestering of TGFbeta in extracellular matrix (GO:0035583)|skeletal system development (GO:0001501)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		TTGGAACATTCGTCCAGATCT	0.358																																						ENST00000316623.5																			0				NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139	GRCh37	CM040037|CM043996	FBN1	M		c.(4096-4098)Gaa>Aaa		fibrillin 1							101	86	91					15																	48766566		2198	4296	6494	SO:0001583	missense	2200				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding	g.chr15:48766566C>T	X63556	CCDS32232.1	15q21.1	2014-09-17	2006-04-25			ENSG00000166147			3603	protein-coding gene	gene with protein product	"Marfan syndrome"	134797	"fibrillin 1 (Marfan syndrome)"	FBN, MFS1, WMS		10036187, 12525539	Standard	NM_000138		Approved	MASS, OCTD, SGS	uc001zwx.2	P35555		ENST00000316623.5:c.4096G>A	15.37:g.48766566C>T	ENSP00000325527:p.Glu1366Lys						p.E1366K	NM_000138.4	NP_000129.3	P35555	FBN1_HUMAN		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)	34	4551	-		all_lung(180;0.00279)	1366		E -> K (in MFS).	EGF-like 23; calcium-binding.		B2RUU0|D2JYH6|Q15972|Q75N87	Missense_Mutation	SNP	ENST00000316623.5	37	c.4096G>A	CCDS32232.1	.	.	.	.	.	.	.	.	.	.	C	28.7	4.942633	0.92526	.	.	ENSG00000166147	ENST00000316623;ENST00000544030	D	0.98849	-5.18	4.75	4.75	0.60458	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	D	0.000000	D	0.99456	0.9807	H	0.96916	3.905	0.80722	D	1	D	0.76494	0.999	D	0.77004	0.989	D	0.98208	1.0471	10	0.87932	D	0	.	17.5399	0.87844	0.0:1.0:0.0:0.0	.	1366	P35555	FBN1_HUMAN	K	1366;256	ENSP00000325527:E1366K	ENSP00000325527:E1366K	E	-	1	0	FBN1	46553858	1.000000	0.71417	0.992000	0.48379	0.714000	0.41099	7.597000	0.82733	2.490000	0.84030	0.561000	0.74099	GAA		0.358	FBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417355.1			3	28	0	0	0	1	0	3	28					T	48766566	C	T	48766566	3	4	112	1	0	0	0	0	1	0	0	0	5702	893	31	2	4651	2	FBN1	15	48766566	Missense_Mutation	SNP	C	TCGA-EJ-A46D-01A-21D-A257-08		48766566	53764826	12	6060											
PRX	57716	broad.mit.edu	37	chr19	40901385	40901385	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gagatggcaaatttggatacCttcagcttggtagctcgccc	9	11	11	10	1	1	1	1	0	0	1	2	3	1	2	2	3	3	4	2	3	3	5			TCGA-EJ-A46D-01A-21D-A257-08	TCGA-EJ-A46D-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bfa7723-1fe3-42f2-8575-70305679ac12	35d8332c-f08f-40f6-9484-3b17a3081894	g.chr19:40901385C>T	ENST00000324001.7	-	7	3144	c.2874G>A	c.(2872-2874)aaG>aaA	p.K958K	PRX_ENST00000291825.7_3'UTR	NM_181882.2	NP_870998.2	Q9BXM0	PRAX_HUMAN	periaxin	958					axon ensheathment (GO:0008366)|cell death (GO:0008219)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9)	47			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			ATTTGGATACCTTCAGCTTGG	0.607																																						ENST00000324001.7																			0				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9)	47						c.(2872-2874)aaG>aaA		periaxin							84	95	91					19																	40901385		2203	4300	6503	SO:0001819	synonymous_variant	57716				axon ensheathment	cytoplasm|nucleus|plasma membrane	protein binding	g.chr19:40901385C>T	AB046840	CCDS12556.1, CCDS33028.1	19q13.2	2014-09-17				ENSG00000105227			13797	protein-coding gene	gene with protein product		605725				10839370, 9143514	Standard	NM_181882		Approved	KIAA1620	uc002onr.3	Q9BXM0		ENST00000324001.7:c.2874G>A	19.37:g.40901385C>T						PRX_ENST00000291825.7_3'UTR	p.K958K	NM_181882.2	NP_870998.2	Q9BXM0	PRAX_HUMAN	Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)		7	3144	-			958					Q9BXL9|Q9HCF2	Silent	SNP	ENST00000324001.7	37	c.2874G>A	CCDS33028.1																																																																																				0.607	PRX-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000462582.1	NM_020956		13	130	0	0	0	1	0	13	130					T	40901385	C	T	40901385	2	4	112	1	0	0	0	0	0	0	0	1	12642	680	24	3		3	PRX	19	40901385	Silent	SNP	C	TCGA-EJ-A46D-01A-21D-A257-08		40901385	18227598	13	6061											
DDX27	55661	broad.mit.edu	37	chr20	47852689	47852689	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtttgtgactgtttctaggcGttttaaggatgaacagattg	9	16	12	4	1	1	3	0	2	1	1	1	4	1	4	0	2	1	3	0	2	3	6			TCGA-EJ-A46D-01A-21D-A257-08	TCGA-EJ-A46D-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bfa7723-1fe3-42f2-8575-70305679ac12	35d8332c-f08f-40f6-9484-3b17a3081894	g.chr20:47852689G>T	ENST00000371764.4	+	13	1532	c.1523G>T	c.(1522-1524)cGt>cTt	p.R508L	DDX27_ENST00000484427.1_3'UTR|ZNFX1_ENST00000469991.1_5'Flank	NM_017895.7	NP_060365.7	Q96GQ7	DDX27_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 27	508	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.					nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	45			BRCA - Breast invasive adenocarcinoma(12;0.000899)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			GTTTCTAGGCGTTTTAAGGAT	0.498																																						ENST00000371764.4																			0				NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	45						c.(1522-1524)cGt>cTt		DEAD (Asp-Glu-Ala-Asp) box polypeptide 27							108	103	105					20																	47852689		2203	4300	6503	SO:0001583	missense	55661					nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding	g.chr20:47852689G>T	AL049766	CCDS13416.1	20q13.13	2010-07-06	2003-06-13		ENSG00000124228	ENSG00000124228		"DEAD-boxes"	15837	protein-coding gene	gene with protein product			"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 27"				Standard	NM_017895		Approved	dJ686N3.1, DRS1	uc002xuh.3	Q96GQ7	OTTHUMG00000033072	ENST00000371764.4:c.1523G>T	20.37:g.47852689G>T	ENSP00000360828:p.Arg508Leu					DDX27_ENST00000484427.1_3'UTR	p.R508L	NM_017895.7	NP_060365.7	Q96GQ7	DDX27_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.000899)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		13	1532	+			508			Helicase C-terminal.		A0AVB6|B7ZLY1|Q5VXM7|Q8WYG4|Q969N7|Q96F57|Q96L97|Q9BWY9|Q9BXF0|Q9H990|Q9NWU3|Q9P0C2|Q9UGD6	Missense_Mutation	SNP	ENST00000371764.4	37	c.1523G>T	CCDS13416.1	.	.	.	.	.	.	.	.	.	.	G	24.8	4.571410	0.86542	.	.	ENSG00000124228	ENST00000371764	T	0.76709	-1.04	5.5	4.52	0.55395	Helicase, C-terminal (3);	0.045882	0.85682	N	0.000000	T	0.77585	0.4152	N	0.25992	0.78	0.58432	D	0.999997	D	0.53745	0.962	P	0.59703	0.862	T	0.75906	-0.3152	10	0.32370	T	0.25	-8.555	13.4684	0.61268	0.0:0.0:0.8421:0.1579	.	508	Q96GQ7	DDX27_HUMAN	L	508	ENSP00000360828:R508L	ENSP00000360828:R508L	R	+	2	0	DDX27	47286096	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	9.813000	0.99286	1.394000	0.46624	0.655000	0.94253	CGT		0.498	DDX27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080485.1			6	78	1	0	0.0293803	1	0.0317308	6	78					T	47852689	G	T	47852689	3	4	112	1	0	0	0	0	1	0	0	0	4354	1145	40	5	1573	5	DDX27	20	47852689	Missense_Mutation	SNP	G	TCGA-EJ-A46D-01A-21D-A257-08		47852689	15172831	14	6062											
KRTAP19-3	337970	broad.mit.edu	37	chr21	31864115	31864115	+	Frame_Shift_Del	DEL	C	C	-																															ctccgaagccagagccatatCcatagcctccaaagccagag																										TCGA-EJ-A46D-01A-21D-A257-08	TCGA-EJ-A46D-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bfa7723-1fe3-42f2-8575-70305679ac12	35d8332c-f08f-40f6-9484-3b17a3081894	g.chr21:31864115delC	ENST00000334063.4	-	1	160	c.161delG	c.(160-162)ggafs	p.G54fs		NM_181609.3	NP_853640.1	Q7Z4W3	KR193_HUMAN	keratin associated protein 19-3	54						intermediate filament (GO:0005882)				large_intestine(1)|lung(7)|upper_aerodigestive_tract(1)	9						AGAGCCATATCCATAGCCTCC	0.537																																						ENST00000334063.4																			0				large_intestine(1)|lung(7)|upper_aerodigestive_tract(1)	9						c.(160-162)gafs		keratin associated protein 19-3				2,4262		0,2,2130	190	196	194			-8.9	0	21		194	15,8239		0,15,4112	no	frameshift	KRTAP19-3	NM_181609.3		0,17,6242	A1A1,A1R,RR		0.1817,0.0469,0.1358			31864115	17,12501	2203	4300	6503	SO:0001589	frameshift_variant	337970					intermediate filament		g.chr21:31864115delC	AP001708	CCDS13596.1	21q22.1	2011-02-10			ENSG00000244025	ENSG00000244025		"Keratin associated proteins"	18938	protein-coding gene	gene with protein product						12359730	Standard	NM_181609		Approved	KAP19.3	uc002yog.1	Q7Z4W3	OTTHUMG00000057782	ENST00000334063.4:c.161delG	21.37:g.31864115delC	ENSP00000386376:p.Gly54fs						p.G54fs	NM_181609.3	NP_853640.1	Q7Z4W3	KR193_HUMAN			1	160	-			54						Frame_Shift_Del	DEL	ENST00000334063.4	37	c.161delG	CCDS13596.1																																																																																				0.537	KRTAP19-3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128234.2			8	343						8	343	---	---	---	---	-	31864115	C	-	31864115	7	5	112	1	0	1	0	1	0	0	0	0	8530	855	30	0	88	0	KRTAP19-3	21	31864115	Frame_Shift_Del	DEL	C	TCGA-EJ-A46D-01A-21D-A257-08		31864115	16265780	15	6063											
SERPIND1	3053	broad.mit.edu	37	chr22	21141285	21141285	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	gtcgaccgcccctttcttttCctcatctacgagcatcgcac	6	12	6	17	4	3	0	1	0	2	0	6	2	4	0	4	0	2	2	4	0	1	4			TCGA-EJ-A46D-01A-21D-A257-08	TCGA-EJ-A46D-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bfa7723-1fe3-42f2-8575-70305679ac12	35d8332c-f08f-40f6-9484-3b17a3081894	g.chr22:21141285C>G	ENST00000215727.5	+	5	1714	c.1431C>G	c.(1429-1431)ttC>ttG	p.F477L	PI4KA_ENST00000255882.6_Intron|PI4KA_ENST00000466162.1_Intron|PI4KA_ENST00000572273.1_Intron|SERPIND1_ENST00000406799.1_Missense_Mutation_p.F477L	NM_000185.3	NP_000176.2	P05546	HEP2_HUMAN	serpin peptidase inhibitor, clade D (heparin cofactor), member 1	477					blood coagulation (GO:0007596)|chemotaxis (GO:0006935)|negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	endopeptidase inhibitor activity (GO:0004866)|heparin binding (GO:0008201)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	all_cancers(11;6.16e-25)|all_epithelial(7;1.02e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)		Ardeparin(DB00407)|Sulodexide(DB06271)	CCTTTCTTTTCCTCATCTACG	0.592																																						ENST00000215727.5																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						c.(1429-1431)ttC>ttG		serpin peptidase inhibitor, clade D (heparin cofactor), member 1	Ardeparin(DB00407)						117	90	99					22																	21141285		2203	4300	6503	SO:0001583	missense	3053				blood coagulation|chemotaxis|regulation of proteolysis	extracellular region	heparin binding|serine-type endopeptidase inhibitor activity	g.chr22:21141285C>G	M12849	CCDS13783.1	22q11.21	2014-02-18	2005-08-18		ENSG00000099937	ENSG00000099937		"Serine (or cysteine) peptidase inhibitors"	4838	protein-coding gene	gene with protein product	"heparin cofactor II"	142360	"serine (or cysteine) proteinase inhibitor, clade D (heparin cofactor), member 1"	HCF2		1671335, 24172014	Standard	XM_005261597		Approved	HC-II, HLS2, HC2, D22S673	uc002ztb.1	P05546	OTTHUMG00000150755	ENST00000215727.5:c.1431C>G	22.37:g.21141285C>G	ENSP00000215727:p.Phe477Leu					SERPIND1_ENST00000406799.1_Missense_Mutation_p.F477L|PI4KA_ENST00000466162.1_Intron|PI4KA_ENST00000572273.1_Intron|PI4KA_ENST00000255882.6_Intron	p.F477L	NM_000185.3	NP_000176.2	P05546	HEP2_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)		5	1714	+	all_cancers(11;6.16e-25)|all_epithelial(7;1.02e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	477					B2RAI1|D3DX34|Q6IBZ5	Missense_Mutation	SNP	ENST00000215727.5	37	c.1431C>G	CCDS13783.1	.	.	.	.	.	.	.	.	.	.	C	16.91	3.253786	0.59212	.	.	ENSG00000099937	ENST00000215727;ENST00000406799	D;D	0.91631	-2.88;-2.88	4.72	2.59	0.31030	Serpin domain (3);Protease inhibitor I4, serpin, conserved site (1);	0.048447	0.85682	D	0.000000	D	0.94679	0.8284	M	0.74647	2.275	0.58432	D	0.999999	D;D	0.76494	0.999;0.999	D;D	0.74674	0.984;0.984	D	0.94115	0.7374	10	0.59425	D	0.04	.	10.5853	0.45280	0.0:0.7803:0.0:0.2197	.	477;477	Q8IVC0;P05546	.;HEP2_HUMAN	L	477	ENSP00000215727:F477L;ENSP00000384050:F477L	ENSP00000215727:F477L	F	+	3	2	SERPIND1	19471285	0.989000	0.36119	0.997000	0.53966	0.822000	0.46500	0.305000	0.19254	1.229000	0.43630	0.655000	0.94253	TTC		0.592	SERPIND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319961.1	NM_000185		11	78	0	0	0	1	0	11	78					G	21141285	C	G	21141285	3	3	112	1	0	0	0	0	1	0	0	0	14110	854	30	5	1445	5	SERPIND1	22	21141285	Missense_Mutation	SNP	C	TCGA-EJ-A46D-01A-21D-A257-08		21141285	30163281	16	6064											
FLNB	2317	broad.mit.edu	37	chr3	58062900	58062900	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgatgccaagaagcagacGccaaagcagaggctgctggg	13	4	15	9	1	0	4	0	1	0	3	0	5	0	4	2	2	4	4	2	2	3	0	rs192491895	byFrequency	TCGA-EJ-A46E-01A-31D-A257-08	TCGA-EJ-A46E-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3471f90f-e293-45d1-a6cf-4927be485fd9	757ae720-46cc-4388-a24f-5c8ab52e12f4	g.chr3:58062900G>A	ENST00000295956.4	+	2	585	c.420G>A	c.(418-420)acG>acA	p.T140T	FLNB_ENST00000348383.5_Silent_p.T140T|FLNB_ENST00000419752.2_5'Flank|FLNB_ENST00000429972.2_Silent_p.T140T|FLNB_ENST00000493452.1_5'Flank|FLNB_ENST00000490882.1_Silent_p.T140T|FLNB_ENST00000358537.3_Silent_p.T140T|FLNB_ENST00000357272.4_Silent_p.T140T	NM_001457.3	NP_001448.2	O75369	FLNB_HUMAN	filamin B, beta	140	Actin-binding.|CH 2. {ECO:0000255|PROSITE- ProRule:PRU00044}.				actin cytoskeleton organization (GO:0030036)|cell differentiation (GO:0030154)|cytokine-mediated signaling pathway (GO:0019221)|cytoskeletal anchoring at plasma membrane (GO:0007016)|signal transduction (GO:0007165)|skeletal muscle tissue development (GO:0007519)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	actin binding (GO:0003779)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		AGAAGCAGACGCCAAAGCAGA	0.557													G|||	2	0.000399361	0	0	5008	,	,		20016	0.001		0.001	False		,,,				2504	0					ENST00000357272.4																			0				NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120						c.(418-420)acG>acA		filamin B, beta							89	86	87					3																	58062900		2203	4300	6503	SO:0001819	synonymous_variant	2317				actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding	g.chr3:58062900G>A	AF043045	CCDS2885.1, CCDS54599.1, CCDS54600.1, CCDS54601.1	3p14.3	2011-02-11	2009-07-23		ENSG00000136068	ENSG00000136068			3755	protein-coding gene	gene with protein product	"actin binding protein 278"	603381	"filamin B, beta (actin binding protein 278)", "Larsen syndrome 1 (autosomal dominant)"	FLN1L, LRS1		8327473, 10449914, 14991055, 16801345	Standard	NM_001457		Approved	TAP, TABP, ABP-278, FH1	uc010hne.2	O75369	OTTHUMG00000159158	ENST00000295956.4:c.420G>A	3.37:g.58062900G>A						FLNB_ENST00000348383.5_Silent_p.T140T|FLNB_ENST00000295956.4_Silent_p.T140T|FLNB_ENST00000429972.2_Silent_p.T140T|FLNB_ENST00000358537.3_Silent_p.T140T|FLNB_ENST00000490882.1_Silent_p.T140T	p.T140T			O75369	FLNB_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)	2	585	+			140			Actin-binding.|CH 2.		B2ZZ83|B2ZZ84|B2ZZ85|C9JKE6|C9JMC4|Q13706|Q59EC2|Q60FE7|Q6MZJ1|Q8WXS9|Q8WXT0|Q8WXT1|Q8WXT2|Q8WXT3|Q9NRB5|Q9NT26|Q9UEV9	Silent	SNP	ENST00000295956.4	37	c.420G>A	CCDS2885.1																																																																																				0.557	FLNB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000353569.1	NM_001457		4	76	0	0	0	1	0	4	76					A	58062900	G	A	58062900	2	1	113	1	0	0	0	0	0	0	0	1	5934	1074	38	1		1	FLNB	3	58062900	Silent	SNP	G	TCGA-EJ-A46E-01A-31D-A257-08		58062900	139959530	1	6065											
STEAP2	261729	broad.mit.edu	37	chr7	89856643	89856643	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agctgcttatcaactttattAcggcaccaagtataggagat	13	12	8	8	1	1	1	1	0	0	1	1	2	1	1	1	2	4	4	1	2	7	6	rs138124501	byFrequency	TCGA-EJ-A46E-01A-31D-A257-08	TCGA-EJ-A46E-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3471f90f-e293-45d1-a6cf-4927be485fd9	757ae720-46cc-4388-a24f-5c8ab52e12f4	g.chr7:89856643A>G	ENST00000287908.3	+	3	1244	c.851A>G	c.(850-852)tAc>tGc	p.Y284C	STEAP2_ENST00000394621.2_Missense_Mutation_p.Y284C|STEAP2_ENST00000394626.1_Missense_Mutation_p.Y284C|STEAP2_ENST00000402625.2_Missense_Mutation_p.Y284C|STEAP2_ENST00000394632.1_Missense_Mutation_p.Y284C|STEAP2_ENST00000394622.2_Missense_Mutation_p.Y284C|STEAP2_ENST00000394629.2_Missense_Mutation_p.Y284C	NM_001244944.1|NM_152999.3	NP_001231873.1|NP_694544.2	Q8NFT2	STEA2_HUMAN	STEAP family member 2, metalloreductase	284	Ferric oxidoreductase.				copper ion import (GO:0015677)|endocytosis (GO:0006897)|ferric iron import into cell (GO:0097461)|Golgi to plasma membrane transport (GO:0006893)|iron ion homeostasis (GO:0055072)|regulated secretory pathway (GO:0045055)|response to hormone (GO:0009725)	cytosol (GO:0005829)|early endosome (GO:0005769)|integral component of Golgi membrane (GO:0030173)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)|trans-Golgi network transport vesicle (GO:0030140)	cupric reductase activity (GO:0008823)|ferric-chelate reductase (NADPH) activity (GO:0052851)|metal ion binding (GO:0046872)|transporter activity (GO:0005215)			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1)	15	all_hematologic(106;0.112)					CAACTTTATTACGGCACCAAG	0.408													A|||	7	0.00139776	0	0.0043	5008	,	,		18351	0		0.004	False		,,,				2504	0					ENST00000287908.3																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1)	15						c.(850-852)tAc>tGc		STEAP family member 2, metalloreductase		A	CYS/TYR,CYS/TYR,CYS/TYR	5,4401	9.9+/-24.2	0,5,2198	86	85	85		851,851,851	6	1	7	dbSNP_134	85	50,8550	31.2+/-83.2	1,48,4251	yes	missense,missense,missense	STEAP2	NM_001040665.1,NM_001040666.1,NM_152999.3	194,194,194	1,53,6449	GG,GA,AA		0.5814,0.1135,0.4229	probably-damaging,probably-damaging,probably-damaging	284/491,284/455,284/491	89856643	55,12951	2203	4300	6503	SO:0001583	missense	261729				electron transport chain|endocytosis|Golgi to plasma membrane transport|ion transport|iron ion homeostasis|regulated secretory pathway|response to hormone stimulus	cytosol|early endosome|endosome membrane|integral to Golgi membrane|plasma membrane|trans-Golgi network transport vesicle|vesicular fraction	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity|transporter activity	g.chr7:89856643A>G	AF455138	CCDS5615.1, CCDS43612.1, CCDS59064.1	7q21.13	2011-09-30	2011-09-30		ENSG00000157214	ENSG00000157214			17885	protein-coding gene	gene with protein product		605094	"prostate cancer associated protein 1", "six transmembrane epithelial antigen of the prostate 2"	PCANAP1		10613842, 12095985	Standard	NM_001040665		Approved	IPCA-1, STAMP1, STMP	uc003ujz.3	Q8NFT2	OTTHUMG00000023341	ENST00000287908.3:c.851A>G	7.37:g.89856643A>G	ENSP00000287908:p.Tyr284Cys					STEAP2_ENST00000394621.2_Missense_Mutation_p.Y284C|STEAP2_ENST00000394632.1_Missense_Mutation_p.Y284C|STEAP2_ENST00000402625.2_Missense_Mutation_p.Y284C|STEAP2_ENST00000394629.2_Missense_Mutation_p.Y284C|STEAP2_ENST00000394622.2_Missense_Mutation_p.Y284C|STEAP2_ENST00000394626.1_Missense_Mutation_p.Y284C	p.Y284C	NM_001244944.1|NM_152999.3	NP_001231873.1|NP_694544.2	Q8NFT2	STEA2_HUMAN			3	1244	+	all_hematologic(106;0.112)		284			Ferric oxidoreductase.		A4D1F1|G5E9C6|Q6UXN6|Q6YPB1|Q8IUE7	Missense_Mutation	SNP	ENST00000287908.3	37	c.851A>G	CCDS5615.1	5	0.0022893772893772895	0	0.0	1	0.0027624309392265192	0	0.0	4	0.005277044854881266	A	16.98	3.271528	0.59649	0.001135	0.005814	ENSG00000157214	ENST00000287908;ENST00000394626;ENST00000394622;ENST00000394632;ENST00000394624;ENST00000394621;ENST00000402625;ENST00000394629	D;D;D;D;D;D;D	0.90955	-2.76;-2.76;-2.76;-2.76;-2.76;-2.76;-2.76	6.04	6.04	0.98038	Flavoprotein transmembrane component (1);	0.000000	0.85682	D	0.000000	D	0.90369	0.6986	L	0.36672	1.1	0.50632	D	0.999882	D;D;D;D	0.76494	0.999;0.999;0.999;0.999	D;D;D;D	0.77557	0.973;0.99;0.962;0.962	D	0.90191	0.4250	9	.	.	.	-15.7275	16.5885	0.84745	1.0:0.0:0.0:0.0	.	284;284;284;284	G5E9C6;Q6YPB2;Q8NFT2;B5MC02	.;.;STEA2_HUMAN;.	C	284	ENSP00000287908:Y284C;ENSP00000378123:Y284C;ENSP00000378120:Y284C;ENSP00000378128:Y284C;ENSP00000378119:Y284C;ENSP00000384191:Y284C;ENSP00000378125:Y284C	.	Y	+	2	0	STEAP2	89694579	1.000000	0.71417	0.997000	0.53966	0.829000	0.46940	5.266000	0.65525	2.317000	0.78254	0.460000	0.39030	TAC		0.408	STEAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059662.4	NM_152999		8	85	0	0	0	1	0	8	85					G	89856643	A	G	89856643	3	3	113	1	0	0	0	0	1	0	0	0	15277	391	14	4	857	4	STEAP2	7	89856643	Missense_Mutation	SNP	A	TCGA-EJ-A46E-01A-31D-A257-08		89856643	69282020	2	6066											
SAMD9L	219285	broad.mit.edu	37	chr7	92764069	92764069	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgaattatccagtgagtctcGgtttcctatgagaagtttaa	11	15	9	6	1	1	3	0	3	1	1	4	4	3	3	2	1	0	2	2	1	5	5	rs150070697	byFrequency	TCGA-EJ-A46E-01A-31D-A257-08	TCGA-EJ-A46E-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3471f90f-e293-45d1-a6cf-4927be485fd9	757ae720-46cc-4388-a24f-5c8ab52e12f4	g.chr7:92764069G>A	ENST00000318238.4	-	5	2432	c.1216C>T	c.(1216-1218)Cga>Tga	p.R406*	SAMD9L_ENST00000411955.1_Nonsense_Mutation_p.R406*|SAMD9L_ENST00000437805.1_Nonsense_Mutation_p.R406*	NM_152703.2	NP_689916.2	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like	406					common myeloid progenitor cell proliferation (GO:0035726)|endosomal vesicle fusion (GO:0034058)|hematopoietic progenitor cell differentiation (GO:0002244)|regulation of protein catabolic process (GO:0042176)|spleen development (GO:0048536)|stem cell division (GO:0017145)	early endosome (GO:0005769)				central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			AGTGAGTCTCGGTTTCCTATG	0.353																																						ENST00000318238.4																			0				central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88						c.(1216-1218)Cga>Tga		sterile alpha motif domain containing 9-like		G	stop/ARG	0,4406		0,0,2203	149	151	150		1216	3.7	1	7	dbSNP_134	150	13,8585	9.8+/-36.6	0,13,4286	yes	stop-gained	SAMD9L	NM_152703.2		0,13,6489	AA,AG,GG		0.1512,0.0,0.1		406/1585	92764069	13,12991	2203	4299	6502	SO:0001587	stop_gained	219285							g.chr7:92764069G>A	AB095926	CCDS34681.1	7q21.2	2013-01-10		2005-04-26	ENSG00000177409	ENSG00000177409		"Sterile alpha motif (SAM) domain containing"	1349	protein-coding gene	gene with protein product		611170	"chromosome 7 open reading frame 6"	C7orf6			Standard	NM_152703		Approved	KIAA2005, FLJ39885	uc003umh.1	Q8IVG5	OTTHUMG00000155807	ENST00000318238.4:c.1216C>T	7.37:g.92764069G>A	ENSP00000326247:p.Arg406*					SAMD9L_ENST00000437805.1_Nonsense_Mutation_p.R406*|SAMD9L_ENST00000411955.1_Nonsense_Mutation_p.R406*	p.R406*	NM_152703.2	NP_689916.2	Q8IVG5	SAM9L_HUMAN	STAD - Stomach adenocarcinoma(171;0.000302)		5	2432	-	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		406					A0JP23|A0JP24|A0PJG8|A4D1G8|D6W5Q6|Q2TV71|Q2TV75|Q2UZV8|Q8IWI4|Q8N3L9|Q8N875	Nonsense_Mutation	SNP	ENST00000318238.4	37	c.1216C>T	CCDS34681.1	.	.	.	.	.	.	.	.	.	.	G	47	13.469791	0.99744	0.0	0.001512	ENSG00000177409	ENST00000318238;ENST00000411955;ENST00000437805	.	.	.	4.54	3.65	0.41850	.	0.520727	0.16175	N	0.226118	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-1.8305	10.9379	0.47255	0.0:0.0:0.4871:0.5129	.	.	.	.	X	406	.	ENSP00000326247:R406X	R	-	1	2	SAMD9L	92602005	0.000000	0.05858	0.996000	0.52242	0.978000	0.69477	0.355000	0.20163	1.109000	0.41680	0.460000	0.39030	CGA		0.353	SAMD9L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341730.1	NM_152703		13	174	0	0	0	1	0	13	174					A	92764069	G	A	92764069	4	1	113	1	0	0	0	0	0	1	0	0	13827	1124	39	2	3542	2	SAMD9L	7	92764069	Nonsense_Mutation	SNP	G	TCGA-EJ-A46E-01A-31D-A257-08	2907426	92764069	66374594	3	6067											
SYT13	57586	broad.mit.edu	37	chr11	45274253	45274253	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gacgtagcagtcacagcctcCgtcgtggttgctggtcacag	7	9	13	12	3	2	0	2	0	0	0	4	1	3	0	2	2	3	4	2	2	1	2			TCGA-EJ-A46E-01A-31D-A257-08	TCGA-EJ-A46E-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3471f90f-e293-45d1-a6cf-4927be485fd9	757ae720-46cc-4388-a24f-5c8ab52e12f4	g.chr11:45274253C>T	ENST00000020926.3	-	4	676	c.565G>A	c.(565-567)Gga>Aga	p.G189R	CTD-2560E9.5_ENST00000531663.1_RNA|CTD-2560E9.5_ENST00000534342.1_RNA	NM_001247987.1|NM_020826.2	NP_001234916.1|NP_065877.1	Q7L8C5	SYT13_HUMAN	synaptotagmin XIII	189	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.				vesicle-mediated transport (GO:0016192)	integral component of plasma membrane (GO:0005887)|transport vesicle (GO:0030133)				breast(1)|large_intestine(3)|lung(16)|ovary(1)|skin(2)	23						TCACAGCCTCCGTCGTGGTTG	0.602											OREG0020928	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000020926.3																			0				breast(1)|large_intestine(3)|lung(16)|ovary(1)|skin(2)	23						c.(565-567)Gga>Aga		synaptotagmin XIII							71	67	69					11																	45274253		2203	4299	6502	SO:0001583	missense	57586					transport vesicle		g.chr11:45274253C>T	AB037848	CCDS31470.1	11p12-p11	2013-01-21			ENSG00000019505	ENSG00000019505		"Synaptotagmins"	14962	protein-coding gene	gene with protein product		607716				11171101	Standard	NM_020826		Approved	KIAA1427	uc001myq.2	Q7L8C5	OTTHUMG00000166504	ENST00000020926.3:c.565G>A	11.37:g.45274253C>T	ENSP00000020926:p.Gly189Arg		OREG0020928	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	930		p.G189R	NM_001247987.1|NM_020826.2	NP_001234916.1|NP_065877.1	Q7L8C5	SYT13_HUMAN			4	676	-			189			C2 1.		A8K4P4|D3DQP1|Q9BQS3|Q9H041|Q9P2C0	Missense_Mutation	SNP	ENST00000020926.3	37	c.565G>A	CCDS31470.1	.	.	.	.	.	.	.	.	.	.	C	14.66	2.601689	0.46423	.	.	ENSG00000019505	ENST00000020926	T	0.11604	2.76	5.85	4.94	0.65067	C2 calcium-dependent membrane targeting (1);C2 calcium/lipid-binding domain, CaLB (1);	0.345067	0.29522	N	0.011905	T	0.10895	0.0266	L	0.32530	0.975	0.20307	N	0.999918	D	0.56287	0.975	P	0.45310	0.476	T	0.12066	-1.0562	10	0.87932	D	0	.	9.5373	0.39231	0.0:0.8007:0.0:0.1993	.	189	Q7L8C5	SYT13_HUMAN	R	189	ENSP00000020926:G189R	ENSP00000020926:G189R	G	-	1	0	SYT13	45230829	0.035000	0.19736	0.261000	0.24466	0.185000	0.23345	1.001000	0.29783	1.475000	0.48197	0.561000	0.74099	GGA		0.602	SYT13-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390110.1	NM_020826		4	79	0	0	0	1	0	4	79					T	45274253	C	T	45274253	3	4	113	1	0	0	0	0	1	0	0	0	15466	661	23	2	727	2	SYT13	11	45274253	Missense_Mutation	SNP	C	TCGA-EJ-A46E-01A-31D-A257-08		45274253	89732263	4	6068											
OR4A5	81318	broad.mit.edu	37	chr11	51411634	51411634	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tttgaaacaggtctaacataTatgaaaatacagggtacaaa	19	10	7	5	0	1	2	0	2	1	0	1	2	1	2	0	2	4	1	0	2	9	6	rs143887524	byFrequency	TCGA-EJ-A46E-01A-31D-A257-08	TCGA-EJ-A46E-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3471f90f-e293-45d1-a6cf-4927be485fd9	757ae720-46cc-4388-a24f-5c8ab52e12f4	g.chr11:51411634T>C	ENST00000319760.6	-	1	814	c.762A>G	c.(760-762)atA>atG	p.I254M		NM_001005272.3	NP_001005272.3	Q8NH83	OR4A5_HUMAN	olfactory receptor, family 4, subfamily A, member 5	254						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(28)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	49		all_lung(304;0.236)				GTCTAACATATATGAAAATAC	0.388													.|||	3	0.000599042	0.0023	0	5008	,	,		19789	0		0	False		,,,				2504	0					ENST00000319760.6																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(28)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	49						c.(760-762)atA>atG		olfactory receptor, family 4, subfamily A, member 5		T	MET/ILE	24,4378		0,24,2177	52	51	52		762	-1.4	0.2	11	dbSNP_134	52	2,8590		0,2,4294	yes	missense	OR4A5	NM_001005272.3	10	0,26,6471	CC,CT,TT		0.0233,0.5452,0.2001	benign	254/316	51411634	26,12968	2201	4296	6497	SO:0001583	missense	81318				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:51411634T>C	AB065506	CCDS73289.1	11p11.12	2012-08-09			ENSG00000221840	ENSG00000221840		"GPCR / Class A : Olfactory receptors"	15162	protein-coding gene	gene with protein product							Standard	NM_001005272		Approved		uc001nhi.2	Q8NH83	OTTHUMG00000166764	ENST00000319760.6:c.762A>G	11.37:g.51411634T>C	ENSP00000367664:p.Ile254Met						p.I254M	NM_001005272.3	NP_001005272.3	Q8NH83	OR4A5_HUMAN			1	814	-		all_lung(304;0.236)	254					Q6IF84	Missense_Mutation	SNP	ENST00000319760.6	37	c.762A>G	CCDS31497.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	.	0.001	-3.667797	0.00006	0.005452	2.33E-4	ENSG00000221840	ENST00000319760	T	0.00044	8.83	2.2	-1.42	0.08913	GPCR, rhodopsin-like superfamily (1);	0.227417	0.30602	N	0.009278	T	0.00039	0.0001	N	0.11341	0.13	0.09310	N	1	B	0.06786	0.001	B	0.17722	0.019	T	0.39078	-0.9631	10	0.08179	T	0.78	.	0.2953	0.00264	0.2052:0.3055:0.2026:0.2867	.	254	Q8NH83	OR4A5_HUMAN	M	254	ENSP00000367664:I254M	ENSP00000367664:I254M	I	-	3	3	OR4A5	51268210	0.000000	0.05858	0.224000	0.23877	0.022000	0.10575	-3.316000	0.00515	-0.280000	0.09154	-1.288000	0.01363	ATA		0.388	OR4A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391399.1	NM_001005272		4	80	0	0	0	1	0	4	80					C	51411634	T	C	51411634	3	2	113	1	0	0	0	0	1	0	0	0	11043	1396	49	4	189	4	OR4A5	11	51411634	Missense_Mutation	SNP	T	TCGA-EJ-A46E-01A-31D-A257-08	6137381	51411634	83594882	5	6069											
CASC5	57082	broad.mit.edu	37	chr15	40917081	40917081	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tcaaactcatgtcaatgctgGagaagcaccagatcctgtaa	14	9	8	10	0	3	2	3	0	0	2	4	3	4	2	2	1	3	3	2	1	4	1	rs183316447	byFrequency	TCGA-EJ-A46E-01A-31D-A257-08	TCGA-EJ-A46E-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3471f90f-e293-45d1-a6cf-4927be485fd9	757ae720-46cc-4388-a24f-5c8ab52e12f4	g.chr15:40917081G>A	ENST00000346991.5	+	11	5087	c.4697G>A	c.(4696-4698)gGa>gAa	p.G1566E	CASC5_ENST00000399668.2_Missense_Mutation_p.G1540E			Q8NG31	CASC5_HUMAN	cancer susceptibility candidate 5	1566					acrosome assembly (GO:0001675)|attachment of spindle microtubules to kinetochore (GO:0008608)|CENP-A containing nucleosome assembly (GO:0034080)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of phosphatase activity (GO:0010923)|nucleosome assembly (GO:0006334)|protein localization to kinetochore (GO:0034501)|spindle assembly checkpoint (GO:0071173)	acrosomal vesicle (GO:0001669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				NS(1)|breast(7)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(13)|lung(16)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_cancers(109;2.03e-18)|all_epithelial(112;4.26e-15)|Lung NSC(122;1.12e-10)|all_lung(180;2.59e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;4.99e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0861)|COAD - Colon adenocarcinoma(120;0.211)		GTCAATGCTGGAGAAGCACCA	0.343													G|||	3	0.000599042	0	0	5008	,	,		19278	0		0.003	False		,,,				2504	0					ENST00000346991.5																			0				NS(1)|breast(7)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(13)|lung(16)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	57						c.(4696-4698)gGa>gAa		cancer susceptibility candidate 5		G	GLU/GLY,GLU/GLY	0,3786		0,0,1893	56	54	55		4619,4697	0.5	0	15		55	1,8225		0,1,4112	yes	missense,missense	CASC5	NM_144508.3,NM_170589.3	98,98	0,1,6005	AA,AG,GG		0.0122,0.0,0.0083	benign,benign	1540/2317,1566/2343	40917081	1,12011	1893	4113	6006	SO:0001583	missense	57082				acrosome assembly|attachment of spindle microtubules to kinetochore|cell division|CenH3-containing nucleosome assembly at centromere|mitotic prometaphase|spindle assembly checkpoint	acrosomal vesicle|condensed chromosome kinetochore|cytosol|nucleoplasm	protein binding	g.chr15:40917081G>A	AF173994	CCDS42023.1, CCDS42024.1	15q14	2013-07-03			ENSG00000137812	ENSG00000137812		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	24054	protein-coding gene	gene with protein product	"cancer/testis antigen 29", "kinetochore null 1 homolog (C. elegans)", "blinkin, bub-linking kinetochore protein", "protein phosphatase 1, regulatory subunit 55"	609173				10980622, 10780384, 18045986	Standard	NM_170589		Approved	D40, AF15Q14, CT29, hKNL-1, KNL1, hSpc105, PPP1R55, Spc7	uc010bbt.1	Q8NG31	OTTHUMG00000166532	ENST00000346991.5:c.4697G>A	15.37:g.40917081G>A	ENSP00000335463:p.Gly1566Glu					CASC5_ENST00000399668.2_Missense_Mutation_p.G1540E	p.G1566E			Q8NG31	CASC5_HUMAN		GBM - Glioblastoma multiforme(113;4.99e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0861)|COAD - Colon adenocarcinoma(120;0.211)	11	5087	+		all_cancers(109;2.03e-18)|all_epithelial(112;4.26e-15)|Lung NSC(122;1.12e-10)|all_lung(180;2.59e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)	1566					Q8NHE1|Q8WXA6|Q9HCK2|Q9NR92	Missense_Mutation	SNP	ENST00000346991.5	37	c.4697G>A	CCDS42023.1	3	0.0013736263736263737	0	0.0	0	0.0	0	0.0	3	0.00395778364116095	G	0.007	-2.013532	0.00422	0.0	1.22E-4	ENSG00000137812	ENST00000346991;ENST00000260369;ENST00000399668	T;T	0.04083	3.71;3.71	5.63	0.471	0.16752	.	1.432560	0.04218	N	0.332929	T	0.02649	0.0080	N	0.08118	0	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.39396	-0.9616	10	0.02654	T	1	.	8.2757	0.31871	0.2938:0.1328:0.5734:0.0	.	1540;1566;1540	Q8NG31-2;Q8NG31;Q8NG31-4	.;CASC5_HUMAN;.	E	1566;1540;1540	ENSP00000335463:G1566E;ENSP00000382576:G1540E	ENSP00000260369:G1540E	G	+	2	0	CASC5	38704373	0.000000	0.05858	0.001000	0.08648	0.003000	0.03518	-0.197000	0.09518	-0.094000	0.12374	-0.813000	0.03139	GGA		0.343	CASC5-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390224.2	NM_144508		4	38	0	0	0	1	0	4	38					A	40917081	G	A	40917081	3	1	113	1	0	0	0	0	1	0	0	0	2663	1174	41	3	4735	3	CASC5	15	40917081	Missense_Mutation	SNP	G	TCGA-EJ-A46E-01A-31D-A257-08		40917081	61614311	6	6070											
NUDT11	55190	broad.mit.edu	37	chrX	51239296	51239309	+	Start_Codon_Del	DEL	TCCTCGAGGCAGCC	TCCTCGAGGCAGCC	-																															ctggttgggtttgcacttcaTcctcgaggcagcctcctcga																								rs78182391		TCGA-EJ-A46E-01A-31D-A257-08	TCGA-EJ-A46E-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3471f90f-e293-45d1-a6cf-4927be485fd9	757ae720-46cc-4388-a24f-5c8ab52e12f4	g.chrX:51239296_51239309delTCCTCGAGGCAGCC	ENST00000375992.3	-	0	139_152					NM_018159.3	NP_060629.2	Q96G61	NUD11_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 11						inositol phosphate metabolic process (GO:0043647)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|intracellular (GO:0005622)	diphosphoinositol-polyphosphate diphosphatase activity (GO:0008486)|inositol diphosphate tetrakisphosphate diphosphatase activity (GO:0052840)|inositol-1,5-bisdiphosphate-2,3,4,6-tetrakisphosphate 1-diphosphatase activity (GO:0052846)|inositol-1,5-bisdiphosphate-2,3,4,6-tetrakisphosphate 5-diphosphatase activity (GO:0052847)|inositol-1-diphosphate-2,3,4,5,6-pentakisphosphate diphosphatase activity (GO:0052843)|inositol-3,5-bisdiphosphate-2,3,4,6-tetrakisphosphate 5-diphosphatase activity (GO:0052848)|inositol-3-diphosphate-1,2,4,5,6-pentakisphosphate diphosphatase activity (GO:0052844)|inositol-5-diphosphate-1,2,3,4,6-pentakisphosphate diphosphatase activity (GO:0052845)|metal ion binding (GO:0046872)	p.?(5)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|upper_aerodigestive_tract(2)	9	Ovarian(276;0.236)					TTGCACTTCATCCTCGAGGCAGCCTCCTCGAGGC	0.692										HNSCC(48;0.14)				2406	0.637351	0.497	0.4928	3775	,	,		5662	0.4464		0.4553	False		,,,				2504	0.5102				GBM(38;198 791 1498 11752 13599)	ENST00000375992.3																			5	Unknown(5)	p.?(5)	upper_aerodigestive_tract(2)|prostate(1)|breast(1)|central_nervous_system(1)	breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|upper_aerodigestive_tract(2)	9								nudix (nucleoside diphosphate linked moiety X)-type motif 11				1710,202		758,11,183,87,17						3	1		dbSNP_131	12	3133,173		1220,1,692,66,40	no	frameshift	NUDT11	NM_018159.3		1978,12,875,153,57	A1A1,A1R,A1,RR,R		5.2329,10.5649,7.1867				4843,375				SO:0001582	initiator_codon_variant	0					cytoplasm	diphosphoinositol-polyphosphate diphosphatase activity|metal ion binding	g.chrX:51239296_51239309delTCCTCGAGGCAGCC	AK001490	CCDS43952.1	Xp11.22-p11.1	2014-05-20			ENSG00000196368	ENSG00000196368		"Nudix motif containing"	18011	protein-coding gene	gene with protein product						12105228	Standard	NM_018159		Approved	DIPP3b, FLJ10628, hDIPP3beta	uc010njt.3	Q96G61	OTTHUMG00000021531		X.37:g.51239296_51239309delTCCTCGAGGCAGCC		HNSCC(48;0.14)						NM_018159.3	NP_060629.2	Q96G61	NUD11_HUMAN			0	139_152	-	Ovarian(276;0.236)							Q9NVN0	Translation_Start_Site	DEL	ENST00000375992.3	37		CCDS43952.1																																																																																				0.692	NUDT11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056579.1			6	7						6	7	---	---	---	---	-	51239309	TCCTCGAGGCAGCC	-	51239296	7	5	113	1	0	1	0	1	0	0	0	0	10727	1435	50	0	501	0	NUDT11	23	51239296	Start_Codon_Del	DEL	TCCTCGAGGCAGCC	TCGA-EJ-A46E-01A-31D-A257-08		51239296	104031264	7	6071											
FGF16	8823	broad.mit.edu	37	chrX	76711785	76711785	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cagaagaaactcacacgtgaAtgtgttttccgggaacagtt	13	10	10	8	2	1	3	1	1	0	2	2	4	2	4	1	1	2	2	1	1	4	3			TCGA-EJ-A46E-01A-31D-A257-08	TCGA-EJ-A46E-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3471f90f-e293-45d1-a6cf-4927be485fd9	757ae720-46cc-4388-a24f-5c8ab52e12f4	g.chrX:76711785A>T	ENST00000439435.1	+	2	122	c.122A>T	c.(121-123)aAt>aTt	p.N41I				O43320	FGF16_HUMAN	fibroblast growth factor 16	0					cell-cell signaling (GO:0007267)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|metabolic process (GO:0008152)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of brown fat cell proliferation (GO:0070349)|response to temperature stimulus (GO:0009266)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	growth factor activity (GO:0008083)			NS(1)|breast(1)|lung(2)	4						TCACACGTGAATGTGTTTTCC	0.423																																						ENST00000439435.1																			0				NS(1)|breast(1)|lung(2)	4						c.(121-123)aAt>aTt		fibroblast growth factor 16							113	105	107					X																	76711785		1875	4100	5975	SO:0001583	missense	8823				cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|metabolic process|organ morphogenesis|response to temperature stimulus	extracellular space	growth factor activity	g.chrX:76711785A>T	AB009391	CCDS75996.1	Xq21.1	2014-01-31			ENSG00000196468	ENSG00000196468			3672	protein-coding gene	gene with protein product		300827	"metacarpal 4-5 fusion"	MF4		9473496, 11474196, 23709756	Standard	NM_003868		Approved		uc011mqp.2	O43320	OTTHUMG00000013133	ENST00000439435.1:c.122A>T	X.37:g.76711785A>T	ENSP00000399324:p.Asn41Ile						p.N41I			O43320	FGF16_HUMAN			2	122	+			0						Missense_Mutation	SNP	ENST00000439435.1	37	c.122A>T		.	.	.	.	.	.	.	.	.	.	A	6.318	0.426809	0.11987	.	.	ENSG00000196468	ENST00000439435	.	.	.	5.6	4.45	0.53987	.	.	.	.	.	T	0.42200	0.1192	.	.	.	.	.	.	.	.	.	.	.	.	T	0.52793	-0.8528	3	.	.	.	.	6.3036	0.21127	0.7053:0.0:0.2947:0.0	.	.	.	.	I	41	.	.	N	+	2	0	FGF16	76598441	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.982000	0.40638	1.866000	0.54105	0.486000	0.48141	AAT		0.423	FGF16-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000036814.1	NM_003868		4	70	0	0	0	1	0	4	70					T	76711785	A	T	76711785	3	4	113	1	0	0	0	0	1	0	0	0	5844	98	4	5	129	5	FGF16	23	76711785	Missense_Mutation	SNP	A	TCGA-EJ-A46E-01A-31D-A257-08	25472489	76711785	78558775	8	6072											
SRPX2	27286	broad.mit.edu	37	chrX	99917332	99917332	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcggtgcaatgcctgccaaGccgtcgttggtctggaactg	6	10	14	11	3	1	0	0	0	1	0	3	1	1	1	3	3	5	2	3	3	3	1	rs200483534		TCGA-EJ-A46E-01A-31D-A257-08	TCGA-EJ-A46E-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3471f90f-e293-45d1-a6cf-4927be485fd9	757ae720-46cc-4388-a24f-5c8ab52e12f4	g.chrX:99917332G>A	ENST00000373004.3	+	4	751	c.323G>A	c.(322-324)aGc>aAc	p.S108N		NM_014467.2	NP_055282.1	O60687	SRPX2_HUMAN	sushi-repeat containing protein, X-linked 2	108	Sushi 1. {ECO:0000255|PROSITE- ProRule:PRU00302}.				angiogenesis (GO:0001525)|cell motility (GO:0048870)|positive regulation of cell migration involved in sprouting angiogenesis (GO:0090050)|positive regulation of synapse assembly (GO:0051965)|regulation of phosphorylation (GO:0042325)|single organismal cell-cell adhesion (GO:0016337)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|excitatory synapse (GO:0060076)|extracellular space (GO:0005615)|synaptic membrane (GO:0097060)	hepatocyte growth factor binding (GO:0036458)|identical protein binding (GO:0042802)|receptor binding (GO:0005102)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(10)|ovary(2)|upper_aerodigestive_tract(1)	19						TGCCTGCCAAGCCGTCGTTGG	0.557																																						ENST00000373004.3																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(10)|ovary(2)|upper_aerodigestive_tract(1)	19						c.(322-324)aGc>aAc		sushi-repeat containing protein, X-linked 2							149	120	130					X																	99917332		2203	4300	6503	SO:0001583	missense	27286				angiogenesis|cell motility|cell-cell adhesion|positive regulation of cell migration involved in sprouting angiogenesis|regulation of phosphorylation	cytoplasm|extracellular region	receptor binding	g.chrX:99917332G>A	AF393649	CCDS14471.1	Xq21.33-q23	2011-01-25	2011-01-25		ENSG00000102359	ENSG00000102359			30668	protein-coding gene	gene with protein product		300642	"sushi-repeat-containing protein, X-linked 2"			9864177	Standard	NM_014467		Approved	SRPUL	uc004egb.3	O60687	OTTHUMG00000022003	ENST00000373004.3:c.323G>A	X.37:g.99917332G>A	ENSP00000362095:p.Ser108Asn						p.S108N	NM_014467.2	NP_055282.1	O60687	SRPX2_HUMAN			4	751	+			108			Sushi 1.		B3KQT3|Q8WW85	Missense_Mutation	SNP	ENST00000373004.3	37	c.323G>A	CCDS14471.1	.	.	.	.	.	.	.	.	.	.	G	0.123	-1.123695	0.01770	.	.	ENSG00000102359	ENST00000373004	T	0.61859	0.07	5.07	0.862	0.19056	Complement control module (2);Sushi/SCR/CCP (3);	0.327802	0.42172	N	0.000760	T	0.31796	0.0808	N	0.11341	0.13	0.31689	N	0.642076	B	0.02656	0.0	B	0.06405	0.002	T	0.23404	-1.0189	9	.	.	.	-6.3726	9.3354	0.38047	0.5273:0.0:0.4727:0.0	.	108	O60687	SRPX2_HUMAN	N	108	ENSP00000362095:S108N	.	S	+	2	0	SRPX2	99803988	0.984000	0.35163	0.972000	0.41901	0.505000	0.33919	0.204000	0.17335	-0.210000	0.10140	-0.305000	0.09177	AGC		0.557	SRPX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057486.1	NM_014467		6	91	0	0	0	1	0	6	91					A	99917332	G	A	99917332	3	1	113	1	0	0	0	0	1	0	0	0	15164	971	34	3	333	3	SRPX2	23	99917332	Missense_Mutation	SNP	G	TCGA-EJ-A46E-01A-31D-A257-08	23205547	99917332	55353228	9	6073											
CLSPN	63967	broad.mit.edu	37	chr1	36226432	36226432	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acctgttgtctgctcagaacCtttactatggtgatcactgt	8	15	8	10	0	3	2	2	1	1	1	3	2	3	2	2	1	3	2	2	1	3	4	rs114727604	byFrequency	TCGA-EJ-A46F-01A-31D-A257-08	TCGA-EJ-A46F-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc6d5463-8229-4c14-b625-910f36daf247	a3cec60f-0430-4c8a-b14c-1fec64f3e1ac	g.chr1:36226432C>T	ENST00000318121.3	-	8	1147	c.1090G>A	c.(1090-1092)Ggt>Agt	p.G364S	CLSPN_ENST00000520551.1_Missense_Mutation_p.G364S|CLSPN_ENST00000373220.3_Missense_Mutation_p.G364S|CLSPN_ENST00000251195.5_Missense_Mutation_p.G364S	NM_022111.3	NP_071394.2	Q9HAW4	CLSPN_HUMAN	claspin	364					activation of protein kinase activity (GO:0032147)|apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|G2 DNA damage checkpoint (GO:0031572)|mitotic DNA replication checkpoint (GO:0033314)|peptidyl-serine phosphorylation (GO:0018105)	nucleoplasm (GO:0005654)	anaphase-promoting complex binding (GO:0010997)|DNA binding (GO:0003677)			NS(2)|breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				TGCTCAGAACCTTTACTATGG	0.388																																						ENST00000251195.5																			0				NS(2)|breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56						c.(1090-1092)Ggt>Agt		claspin							93	94	94					1																	36226432		2201	4299	6500	SO:0001583	missense	63967				activation of protein kinase activity|cell cycle|cellular component disassembly involved in apoptosis|DNA repair|DNA replication|G2/M transition DNA damage checkpoint|mitotic cell cycle DNA replication checkpoint|peptidyl-serine phosphorylation	nucleoplasm	anaphase-promoting complex binding|DNA binding	g.chr1:36226432C>T	AF297866	CCDS396.1, CCDS53297.1	1p34.3	2010-06-24	2010-06-24		ENSG00000092853	ENSG00000092853			19715	protein-coding gene	gene with protein product		605434	"claspin homolog (Xenopus laevis)"			11090622, 12766152	Standard	NM_022111		Approved		uc001bzi.3	Q9HAW4	OTTHUMG00000004168	ENST00000318121.3:c.1090G>A	1.37:g.36226432C>T	ENSP00000312995:p.Gly364Ser					CLSPN_ENST00000520551.1_Missense_Mutation_p.G364S|CLSPN_ENST00000373220.3_Missense_Mutation_p.G364S|CLSPN_ENST00000318121.3_Missense_Mutation_p.G364S	p.G364S			Q9HAW4	CLSPN_HUMAN			8	1186	-		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)	364					A6NFL4|Q1RMC6|Q2KHM3|Q5VYG0|Q6P6H5|Q8IWI1	Missense_Mutation	SNP	ENST00000318121.3	37	c.1090G>A	CCDS396.1	.	.	.	.	.	.	.	.	.	.	C	7.917	0.737666	0.15574	.	.	ENSG00000092853	ENST00000251195;ENST00000318121;ENST00000373220;ENST00000520551;ENST00000544356	T;T;T;T	0.25085	1.89;1.89;1.82;1.85	5.51	2.53	0.30540	.	0.908575	0.09720	N	0.764541	T	0.19927	0.0479	L	0.33485	1.01	0.09310	N	0.999996	B;B	0.22800	0.005;0.075	B;B	0.26864	0.008;0.074	T	0.33548	-0.9864	10	0.30078	T	0.28	-1.6646	7.7671	0.28986	0.0:0.6481:0.0:0.3519	.	364;364	Q9HAW4-2;Q9HAW4	.;CLSPN_HUMAN	S	364	ENSP00000251195:G364S;ENSP00000312995:G364S;ENSP00000362317:G364S;ENSP00000428848:G364S	ENSP00000251195:G364S	G	-	1	0	CLSPN	35999019	0.001000	0.12720	0.920000	0.36463	0.445000	0.32107	0.026000	0.13599	0.235000	0.21160	-0.191000	0.12829	GGT		0.388	CLSPN-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377857.1	NM_022111		35	45	0	0	0	1	0	35	45					T	36226432	C	T	36226432	3	4	114	1	0	0	0	0	1	0	0	0	3560	681	24	3	3001	3	CLSPN	1	36226432	Missense_Mutation	SNP	C	TCGA-EJ-A46F-01A-31D-A257-08		36226432	213024189	1	6074											
FLG	2312	broad.mit.edu	37	chr1	152282410	152282410	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	catgacgagtgcctgattgtCtggagctctctgcagagtgc	7	11	13	10	1	2	3	0	2	2	1	3	5	2	4	1	1	4	2	1	1	0	1			TCGA-EJ-A46F-01A-31D-A257-08	TCGA-EJ-A46F-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc6d5463-8229-4c14-b625-910f36daf247	a3cec60f-0430-4c8a-b14c-1fec64f3e1ac	g.chr1:152282410C>T	ENST00000368799.1	-	3	4987	c.4952G>A	c.(4951-4953)aGa>aAa	p.R1651K	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1651	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCCTGATTGTCTGGAGCTCTC	0.552									Ichthyosis																													ENST00000368799.1																			0				autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424						c.(4951-4953)aGa>aAa		filaggrin							253	257	255					1																	152282410		2203	4300	6503	SO:0001583	missense	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152282410C>T	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"EF-hand domain containing"	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.4952G>A	1.37:g.152282410C>T	ENSP00000357789:p.Arg1651Lys					FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	p.R1651K	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	4987	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1651			Ser-rich.		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	c.4952G>A	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	C	8.034	0.762490	0.15914	.	.	ENSG00000143631	ENST00000368799	T	0.00824	5.65	3.55	2.61	0.31194	.	.	.	.	.	T	0.00356	0.0011	L	0.44542	1.39	0.09310	N	1	P	0.51057	0.941	B	0.43809	0.432	T	0.20240	-1.0281	9	0.05833	T	0.94	.	9.1394	0.36894	0.0:0.7749:0.2251:0.0	.	1651	P20930	FILA_HUMAN	K	1651	ENSP00000357789:R1651K	ENSP00000357789:R1651K	R	-	2	0	FLG	150549034	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.544000	0.23253	0.597000	0.29811	0.306000	0.20318	AGA		0.552	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		160	209	0	0	0	1	0	160	209					T	152282410	C	T	152282410	3	4	114	1	0	0	0	0	1	0	0	0	5922	913	32	3	7237	3	FLG	1	152282410	Missense_Mutation	SNP	C	TCGA-EJ-A46F-01A-31D-A257-08	116055978	152282410	96968211	2	6075											
SHC1	6464	broad.mit.edu	37	chr1	154938797	154938797	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tccatccaagcaacttaccaAtgtagctcccaagtggctgg	11	9	8	13	0	0	0	0	0	0	0	3	0	3	0	4	2	4	4	4	2	6	2	rs77859168	byFrequency	TCGA-EJ-A46F-01A-31D-A257-08	TCGA-EJ-A46F-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc6d5463-8229-4c14-b625-910f36daf247	a3cec60f-0430-4c8a-b14c-1fec64f3e1ac	g.chr1:154938797A>G	ENST00000368445.5	-	8	1394	c.1180T>C	c.(1180-1182)Ttg>Ctg	p.L394L	SHC1_ENST00000368450.1_Silent_p.L284L|SHC1_ENST00000368449.4_Silent_p.L165L|SHC1_ENST00000448116.2_Silent_p.L394L|SHC1_ENST00000368453.4_Silent_p.L284L|SHC1_ENST00000490667.1_5'Flank|PYGO2_ENST00000483463.1_5'Flank|SHC1_ENST00000606391.1_Silent_p.L195L	NM_183001.4	NP_892113.4	P29353	SHC1_HUMAN	SHC (Src homology 2 domain containing) transforming protein 1	394	CH1.				actin cytoskeleton reorganization (GO:0031532)|activation of MAPK activity (GO:0000187)|activation of signaling protein activity involved in unfolded protein response (GO:0006987)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet activation (GO:0030168)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|Ras protein signal transduction (GO:0007265)|regulation of epidermal growth factor-activated receptor activity (GO:0007176)|regulation of growth (GO:0040008)|single organismal cell-cell adhesion (GO:0016337)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|Shc-EGFR complex (GO:0070435)	ephrin receptor binding (GO:0046875)|epidermal growth factor receptor binding (GO:0005154)|insulin receptor binding (GO:0005158)|insulin-like growth factor receptor binding (GO:0005159)|neurotrophin TRKA receptor binding (GO:0005168)|phospholipid binding (GO:0005543)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)			breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(8)|prostate(1)|skin(1)	20	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			CAACTTACCAATGTAGCTCCC	0.607													G|||	9	0.00179712	0	0.0029	5008	,	,		16552	0.0069		0	False		,,,				2504	0				NSCLC(4;32 234 1864 2492 3259 13747 17376)	ENST00000448116.2																			0				breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(8)|prostate(1)|skin(1)	20						c.(1180-1182)Ttg>Ctg		SHC (Src homology 2 domain containing) transforming protein 1							38	45	42					1																	154938797		2203	4300	6503	SO:0001819	synonymous_variant	6464				activation of MAPK activity|blood coagulation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|positive regulation of DNA replication|Ras protein signal transduction|regulation of epidermal growth factor receptor activity|regulation of growth	cytosol|mitochondrial matrix|Shc-EGFR complex	epidermal growth factor receptor binding|insulin receptor binding|insulin-like growth factor receptor binding|phospholipid binding|protein binding|transmembrane receptor protein tyrosine kinase adaptor activity	g.chr1:154938797A>G	U73377	CCDS1076.1, CCDS30881.1, CCDS44233.1, CCDS44234.1	1q21	2013-02-14	2002-01-14		ENSG00000160691	ENSG00000160691		"SH2 domain containing"	10840	protein-coding gene	gene with protein product		600560	"SHC (Src homology 2 domain-containing) transforming protein 1"	SHC		1623525	Standard	NM_003029		Approved	p66	uc001ffw.3	P29353	OTTHUMG00000037295	ENST00000368445.5:c.1180T>C	1.37:g.154938797A>G						SHC1_ENST00000368449.4_Silent_p.L165L|SHC1_ENST00000368450.1_Silent_p.L284L|SHC1_ENST00000368453.4_Silent_p.L284L|SHC1_ENST00000606391.1_Silent_p.L195L|SHC1_ENST00000368445.5_Silent_p.L394L	p.L394L	NM_001130040.1	NP_001123512.1	P29353	SHC1_HUMAN	BRCA - Breast invasive adenocarcinoma(34;0.00034)		8	1400	-	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245)		394			CH1.		B5BU19|D3DV78|O15290|Q5T180|Q5T183|Q5T184|Q5T185|Q5T186|Q8N4K5|Q96CL1	Silent	SNP	ENST00000368445.5	37	c.1180T>C	CCDS30881.1	5	0.0022893772893772895	0	0.0	0	0.0	5	0.008741258741258742	0	0.0	G	5.552	0.286643	0.10513	.	.	ENSG00000160691	ENST00000444664	.	.	.	5.15	1.85	0.25348	.	.	.	.	.	T	0.47229	0.1434	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.42599	-0.9442	4	.	.	.	.	11.1612	0.48516	0.3118:0.0:0.6882:0.0	.	.	.	.	T	57	.	.	I	-	2	0	SHC1	153205421	0.681000	0.27614	0.959000	0.39883	0.352000	0.29268	0.871000	0.28023	0.250000	0.21479	-0.213000	0.12676	ATT		0.607	SHC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000090781.2	NM_183001		3	43	0	0	0	1	0	3	43					G	154938797	A	G	154938797	2	3	114	1	0	0	0	0	0	0	0	1	14270	98	4	4		4	SHC1	1	154938797	Silent	SNP	A	TCGA-EJ-A46F-01A-31D-A257-08	2656387	154938797	94311824	3	6076											
CFH	3075	broad.mit.edu	37	chr1	196709884	196709884	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgggcctgcaattgcaaaatGcttaggagaaaaatggtctc	13	10	11	7	0	1	1	0	0	1	1	2	2	1	1	1	3	3	3	1	3	6	2			TCGA-EJ-A46F-01A-31D-A257-08	TCGA-EJ-A46F-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc6d5463-8229-4c14-b625-910f36daf247	a3cec60f-0430-4c8a-b14c-1fec64f3e1ac	g.chr1:196709884G>T	ENST00000367429.4	+	18	3158	c.2918G>T	c.(2917-2919)tGc>tTc	p.C973F		NM_000186.3	NP_000177.2	P08603	CFAH_HUMAN	complement factor H	973	Sushi 16. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	heparan sulfate proteoglycan binding (GO:0043395)|heparin binding (GO:0008201)			NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						ATTGCAAAATGCTTAGGAGAA	0.358																																						ENST00000367429.4																			0				NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101	GRCh37	CM045282	CFH	M		c.(2917-2919)tGc>tTc		complement factor H							139	131	134					1																	196709884		2203	4300	6503	SO:0001583	missense	3075				complement activation, alternative pathway	extracellular space		g.chr1:196709884G>T	Y00716	CCDS1385.1	1q32	2014-09-17	2004-08-09	2004-08-12	ENSG00000000971	ENSG00000000971		"Complement system"	4883	protein-coding gene	gene with protein product	"beta-1H", "H factor 2 (complement)", "age-related maculopathy susceptibility 1"	134370	"H factor 1 (complement)"	HF, HF1, HF2		2889480, 2963625	Standard	NM_000186		Approved	HUS, FHL1, ARMS1, ARMD4	uc001gtj.4	P08603	OTTHUMG00000035607	ENST00000367429.4:c.2918G>T	1.37:g.196709884G>T	ENSP00000356399:p.Cys973Phe						p.C973F	NM_000186.3	NP_000177.2	P08603	CFAH_HUMAN			18	3158	+			973			Sushi 16.		A5PL14|P78435|Q14570|Q2TAZ5|Q38G77|Q5TFM3|Q8N708|Q9NU86	Missense_Mutation	SNP	ENST00000367429.4	37	c.2918G>T	CCDS1385.1	.	.	.	.	.	.	.	.	.	.	.	12.04	1.818510	0.32145	.	.	ENSG00000000971	ENST00000367429	D	0.99304	-5.72	6.16	5.25	0.73442	Complement control module (2);Sushi/SCR/CCP (3);	.	.	.	.	D	0.99651	0.9871	H	0.98769	4.325	0.58432	D	0.999996	D	0.71674	0.998	D	0.74348	0.983	D	0.97599	1.0122	9	0.87932	D	0	.	11.6585	0.51332	0.0809:0.0:0.9191:0.0	.	973	P08603	CFAH_HUMAN	F	973	ENSP00000356399:C973F	ENSP00000356399:C973F	C	+	2	0	CFH	194976507	0.321000	0.24625	0.100000	0.21137	0.080000	0.17528	1.598000	0.36740	1.623000	0.50342	0.650000	0.86243	TGC		0.358	CFH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086412.2	NM_000186		33	33	1	0	1.60099e-16	1	1.70014e-16	33	33					T	196709884	G	T	196709884	3	4	114	1	0	0	0	0	1	0	0	0	3283	1319	46	5	3006	5	CFH	1	196709884	Missense_Mutation	SNP	G	TCGA-EJ-A46F-01A-31D-A257-08	41771087	196709884	52540737	4	6077											
MYBPH	4608	broad.mit.edu	37	chr1	203138381	203138381	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aacagggcctggcccctcacCttgggtgaagctcggacact	8	7	12	14	1	1	1	1	1	0	0	2	2	1	2	4	4	2	1	4	4	2	1			TCGA-EJ-A46F-01A-31D-A257-08	TCGA-EJ-A46F-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc6d5463-8229-4c14-b625-910f36daf247	a3cec60f-0430-4c8a-b14c-1fec64f3e1ac	g.chr1:203138381C>T	ENST00000255416.4	-	8	1287	c.1230G>A	c.(1228-1230)aaG>aaA	p.K410K		NM_004997.2	NP_004988.2	Q13203	MYBPH_HUMAN	myosin binding protein H	410	Ig-like C2-type 2.			RASPKP -> ELHQA (in Ref. 1; AAA36339). {ECO:0000305}.	cell adhesion (GO:0007155)|regulation of striated muscle contraction (GO:0006942)	myosin filament (GO:0032982)	structural constituent of muscle (GO:0008307)			endometrium(5)|large_intestine(6)|lung(7)|skin(1)|urinary_tract(1)	20			BRCA - Breast invasive adenocarcinoma(75;0.153)	Colorectal(1306;0.0306)		GGCCCCTCACCTTGGGTGAAG	0.647																																					NSCLC(32;174 1025 14462 23899 42933)	ENST00000255416.4																			0				endometrium(5)|large_intestine(6)|lung(7)|skin(1)|urinary_tract(1)	20						c.e8+1		myosin binding protein H							43	39	40					1																	203138381		2203	4300	6503	SO:0001630	splice_region_variant	4608				cell adhesion|regulation of striated muscle contraction	myosin filament	structural constituent of muscle	g.chr1:203138381C>T	BC044226	CCDS30975.1	1q32.1	2013-02-11	2001-11-28		ENSG00000133055	ENSG00000133055		"Myosin binding proteins", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	7552	protein-coding gene	gene with protein product		160795	"myosin-binding protein H"			8486381	Standard	NM_004997		Approved		uc001gzh.1	Q13203	OTTHUMG00000042121	ENST00000255416.4:c.1230+1G>A	1.37:g.203138381C>T							p.K410_splice	NM_004997.2	NP_004988.2	Q13203	MYBPH_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.153)	Colorectal(1306;0.0306)	8	1287	-			410	RASPKP -> ELHQA (in Ref. 1; AAA36339).		Ig-like C2-type 2.		Q16886|Q86YC5	Splice_Site	SNP	ENST00000255416.4	37	c.1230_splice	CCDS30975.1																																																																																				0.647	MYBPH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000100264.1	NM_004997	Silent	11	18	0	0	0	1	0	11	18					T	203138381	C	T	203138381	5	4	114	1	0	0	0	0	0	0	1	0	10014	695	24	3	215	3	MYBPH	1	203138381	Splice_Site	SNP	C	TCGA-EJ-A46F-01A-31D-A257-08	6428497	203138381	46112240	5	6078											
DOCK10	55619	broad.mit.edu	37	chr2	225684223	225684223	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accatcttaaacacatacccTcggtccataaatgtaaagca	16	9	4	12	1	1	0	0	0	1	0	3	0	2	0	3	1	3	2	3	1	7	4			TCGA-EJ-A46F-01A-31D-A257-08	TCGA-EJ-A46F-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc6d5463-8229-4c14-b625-910f36daf247	a3cec60f-0430-4c8a-b14c-1fec64f3e1ac	g.chr2:225684223T>G	ENST00000258390.7	-	29	3274	c.3207A>C	c.(3205-3207)cgA>cgC	p.R1069R	DOCK10_ENST00000409592.3_Silent_p.R1063R	NM_014689.2	NP_055504.2	Q96BY6	DOC10_HUMAN	dedicator of cytokinesis 10	1069					regulation of cell migration (GO:0030334)|small GTPase mediated signal transduction (GO:0007264)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	87		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)		ACACATACCCTCGGTCCATAA	0.318																																						ENST00000409592.3																			0				NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	87						c.(3187-3189)cgA>cgC		dedicator of cytokinesis 10							113	107	109					2																	225684223		1841	4089	5930	SO:0001819	synonymous_variant	55619						GTP binding	g.chr2:225684223T>G	AB014594	CCDS46528.1, CCDS74661.1	2q36.3	2013-01-10			ENSG00000135905	ENSG00000135905		"Pleckstrin homology (PH) domain containing"	23479	protein-coding gene	gene with protein product	"zizimin3"	611518				12432077	Standard	NM_014689		Approved	ZIZ3, KIAA0694	uc010fwz.1	Q96BY6	OTTHUMG00000153428	ENST00000258390.7:c.3207A>C	2.37:g.225684223T>G						DOCK10_ENST00000258390.7_Silent_p.R1069R	p.R1063R			Q96BY6	DOC10_HUMAN		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)	29	3302	-		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)	1069					B3FL70|O75178|Q9NW06|Q9NXI8	Silent	SNP	ENST00000258390.7	37	c.3189A>C	CCDS46528.1																																																																																				0.318	DOCK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331246.1			6	83	0	0	0	1	0	6	83					G	225684223	T	G	225684223	2	3	114	1	0	0	0	0	0	0	0	1	4685	1538	54	5		5	DOCK10	2	225684223	Silent	SNP	T	TCGA-EJ-A46F-01A-31D-A257-08		225684223	17515150	6	6079											
SP100	6672	broad.mit.edu	37	chr2	231375862	231375862	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aatactggaatctcacaacaAtaccttagttgacccttgtg	13	12	6	10	0	1	1	1	1	1	0	2	2	1	2	2	1	3	1	2	1	7	5			TCGA-EJ-A46F-01A-31D-A257-08	TCGA-EJ-A46F-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc6d5463-8229-4c14-b625-910f36daf247	a3cec60f-0430-4c8a-b14c-1fec64f3e1ac	g.chr2:231375862A>G	ENST00000264052.5	+	24	2430	c.2075A>G	c.(2074-2076)aAt>aGt	p.N692S	SP100_ENST00000340126.4_Missense_Mutation_p.N692S	NM_003113.3	NP_003104.2	P23497	SP100_HUMAN	SP100 nuclear antigen	692					cytokine-mediated signaling pathway (GO:0019221)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of cellular component movement (GO:0051271)|negative regulation of DNA binding (GO:0043392)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of protein export from nucleus (GO:0046826)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of viral transcription (GO:0032897)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of angiogenesis (GO:0045765)|regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902041)|regulation of Fas signaling pathway (GO:1902044)|response to cytokine (GO:0034097)|response to interferon-gamma (GO:0034341)|response to retinoic acid (GO:0032526)|response to type I interferon (GO:0034340)|retinoic acid receptor signaling pathway (GO:0048384)|telomere maintenance (GO:0000723)|transcription, DNA-templated (GO:0006351)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nuclear periphery (GO:0034399)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|protein domain specific binding (GO:0019904)|protein homodimerization activity (GO:0042803)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(4)|upper_aerodigestive_tract(1)	25		Renal(207;0.0112)|all_lung(227;0.0335)|all_hematologic(139;0.0749)|Lung NSC(271;0.142)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		TCTCACAACAATACCTTAGTT	0.383																																						ENST00000264052.5																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(4)|upper_aerodigestive_tract(1)	25						c.(2074-2076)aAt>aGt		SP100 nuclear antigen							110	105	106					2																	231375862		2203	4300	6503	SO:0001583	missense	6672				DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|interspecies interaction between organisms|negative regulation of cellular component movement|negative regulation of DNA binding|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|negative regulation of viral transcription|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to cytokine stimulus|response to retinoic acid|response to type I interferon	cytoplasm|nuclear periphery|nucleolus|PML body	chromo shadow domain binding|DNA binding|identical protein binding|kinase binding|protein homodimerization activity|transcription coactivator activity|transcription corepressor activity|transcription factor binding	g.chr2:231375862A>G	AF056322	CCDS2477.1, CCDS42832.1, CCDS56170.1, CCDS56171.1, CCDS56172.1, CCDS56173.1	2q37.1	2013-01-28	2005-11-30		ENSG00000067066	ENSG00000067066		"Zinc fingers, PHD-type"	11206	protein-coding gene	gene with protein product		604585	"nuclear antigen Sp100"			2258622, 8695863	Standard	NM_001080391		Approved		uc002vqu.1	P23497	OTTHUMG00000133203	ENST00000264052.5:c.2075A>G	2.37:g.231375862A>G	ENSP00000264052:p.Asn692Ser					SP100_ENST00000340126.4_Missense_Mutation_p.N692S	p.N692S	NM_003113.3	NP_003104.2	P23497	SP100_HUMAN		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)	24	2430	+		Renal(207;0.0112)|all_lung(227;0.0335)|all_hematologic(139;0.0749)|Lung NSC(271;0.142)|Acute lymphoblastic leukemia(138;0.167)	692					B4DDX5|B8ZZD8|E7EUA7|E9PH61|F8WFE2|O75450|Q13343|Q8TE34|Q96F70|Q96T24|Q96T95|Q9NP33|Q9UE32	Missense_Mutation	SNP	ENST00000264052.5	37	c.2075A>G	CCDS2477.1	.	.	.	.	.	.	.	.	.	.	A	12.56	1.976057	0.34848	.	.	ENSG00000067066	ENST00000264052;ENST00000340126;ENST00000414648	T;D	0.84146	2.26;-1.81	4.24	0.527	0.17084	High mobility group, superfamily (1);High mobility group, HMG1/HMG2 (2);	.	.	.	.	T	0.66963	0.2843	N	0.05124	-0.11	0.09310	N	1	B;B;B	0.34349	0.075;0.244;0.45	B;B;B	0.34180	0.01;0.063;0.177	T	0.57871	-0.7736	9	0.42905	T	0.14	.	6.1095	0.20092	0.6768:0.0:0.3232:0.0	.	162;692;692	E9PHN1;P23497-4;P23497	.;.;SP100_HUMAN	S	692;692;162	ENSP00000264052:N692S;ENSP00000343023:N692S	ENSP00000264052:N692S	N	+	2	0	SP100	231084106	0.000000	0.05858	0.000000	0.03702	0.734000	0.41952	-0.088000	0.11198	0.084000	0.17077	0.533000	0.62120	AAT		0.383	SP100-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256914.2	NM_003113		17	41	0	0	0	1	0	17	41					G	231375862	A	G	231375862	3	3	114	1	0	0	0	0	1	0	0	0	14960	101	4	4	2169	4	SP100	2	231375862	Missense_Mutation	SNP	A	TCGA-EJ-A46F-01A-31D-A257-08	5691639	231375862	11823511	7	6080											
SGEF	26084	broad.mit.edu	37	chr3	153943759	153943759	+	Frame_Shift_Del	DEL	T	T	-																															ccaaacagcaagtctacttcTttctctttaacgatgtgctc																										TCGA-EJ-A46F-01A-31D-A257-08	TCGA-EJ-A46F-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc6d5463-8229-4c14-b625-910f36daf247	a3cec60f-0430-4c8a-b14c-1fec64f3e1ac	g.chr3:153943759delT	ENST00000356448.4	+	11	2334	c.2050delT	c.(2050-2052)tttfs	p.F684fs	ARHGEF26_ENST00000465093.1_Frame_Shift_Del_p.F684fs|ARHGEF26_ENST00000483068.1_3'UTR|ARHGEF26_ENST00000465817.1_Intron	NM_001251962.1	NP_001238891.1	Q96DR7	ARHGQ_HUMAN	Rho guanine nucleotide exchange factor (GEF) 26	684	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				endothelial cell morphogenesis (GO:0001886)|ruffle assembly (GO:0097178)	cell projection (GO:0042995)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			endometrium(4)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1)	23						AGTCTACTTCTTTCTCTTTAA	0.403																																					GBM(163;191 2003 24758 29593 48540)|Ovarian(152;631 1885 20165 22910 51013)	ENST00000356448.4																			0				endometrium(4)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1)	23						c.(2050-2052)ttfs		Rho guanine nucleotide exchange factor (GEF) 26							115	102	106					3																	153943759		1898	4111	6009	SO:0001589	frameshift_variant	26084				regulation of Rho protein signal transduction	intracellular|ruffle	Rho guanyl-nucleotide exchange factor activity	g.chr3:153943759delT	BC016628	CCDS46938.1, CCDS58858.1	3q25.2	2013-01-10			ENSG00000114790	ENSG00000114790		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	24490	protein-coding gene	gene with protein product	"Src homology 3 domain-containing guanine nucleotide exchange factor"					15133129, 12697679	Standard	NM_015595		Approved	DKFZP434D146, SGEF	uc021xgc.1	Q96DR7	OTTHUMG00000159098	ENST00000356448.4:c.2050delT	3.37:g.153943759delT	ENSP00000348828:p.Phe684fs					ARHGEF26_ENST00000465093.1_Frame_Shift_Del_p.F684fs|ARHGEF26_ENST00000465817.1_Intron|ARHGEF26_ENST00000483068.1_3'UTR	p.F684fs	NM_001251962.1	NP_001238891.1	Q96DR7	ARHGQ_HUMAN			11	2334	+			684			PH.		B3KVP8|E9PBD0|Q68CL1|Q6AZ96|Q6Q8Q8|Q96AW8|Q96DR6|Q9H9D7|Q9H9R2|Q9UFW5	Frame_Shift_Del	DEL	ENST00000356448.4	37	c.2050delT	CCDS46938.1																																																																																				0.403	ARHGEF26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353287.3	NM_015595		15	31						15	31	---	---	---	---	-	153943759	T	-	153943759	7	5	114	1	0	1	0	1	0	0	0	0	14205	1609	56	0	2088	0	SGEF	3	153943759	Frame_Shift_Del	DEL	T	TCGA-EJ-A46F-01A-31D-A257-08		153943759	44078671	8	6081											
PTX3	5806	broad.mit.edu	37	chr3	157154782	157154782	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcagtgttggccgagaactcGgatgattatgatctcatgta	10	12	12	7	2	1	3	1	2	1	1	3	5	1	4	1	2	1	3	1	2	3	3			TCGA-EJ-A46F-01A-31D-A257-08	TCGA-EJ-A46F-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc6d5463-8229-4c14-b625-910f36daf247	a3cec60f-0430-4c8a-b14c-1fec64f3e1ac	g.chr3:157154782G>A	ENST00000295927.3	+	1	205	c.60G>A	c.(58-60)tcG>tcA	p.S20S	VEPH1_ENST00000392833.2_Intron|VEPH1_ENST00000543418.1_Intron|VEPH1_ENST00000362010.2_Intron|VEPH1_ENST00000392832.2_Intron	NM_002852.3	NP_002843.2	P26022	PTX3_HUMAN	pentraxin 3, long	20					inflammatory response (GO:0006954)|innate immune response (GO:0045087)|negative regulation of exo-alpha-sialidase activity (GO:1903016)|negative regulation of glycoprotein metabolic process (GO:1903019)|negative regulation of viral entry into host cell (GO:0046597)|opsonization (GO:0008228)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of phagocytosis (GO:0050766)|response to yeast (GO:0001878)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	(1->3)-beta-D-glucan binding (GO:0001872)|complement component C1q binding (GO:0001849)|virion binding (GO:0046790)			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(4)|stomach(1)	10			Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461)			CCGAGAACTCGGATGATTATG	0.468																																						ENST00000295927.3																			0				central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(4)|stomach(1)	10						c.(58-60)tcG>tcA		pentraxin 3, long							233	210	218					3																	157154782		2203	4300	6503	SO:0001819	synonymous_variant	5806				inflammatory response	extracellular region		g.chr3:157154782G>A	X63613	CCDS3180.1	3q25	2010-03-11	2010-03-11		ENSG00000163661	ENSG00000163661			9692	protein-coding gene	gene with protein product		602492	"pentaxin-related gene, rapidly induced by IL-1 beta", "tumor necrosis factor, alpha-induced protein 5", "pentraxin-related gene, rapidly induced by IL-1 beta"	TNFAIP5		1429570	Standard	NM_002852		Approved	TSG-14	uc003fbl.4	P26022	OTTHUMG00000158750	ENST00000295927.3:c.60G>A	3.37:g.157154782G>A						VEPH1_ENST00000392832.2_Intron|VEPH1_ENST00000392833.2_Intron|VEPH1_ENST00000362010.2_Intron|VEPH1_ENST00000543418.1_Intron	p.S20S	NM_002852.3	NP_002843.2	P26022	PTX3_HUMAN	Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461)		1	205	+			20					B2R6T6|Q38M82	Silent	SNP	ENST00000295927.3	37	c.60G>A	CCDS3180.1																																																																																				0.468	PTX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352028.1	NM_002852		64	60	0	0	0	1	0	64	60					A	157154782	G	A	157154782	2	1	114	1	0	0	0	0	0	0	0	1	12822	1103	39	2		2	PTX3	3	157154782	Silent	SNP	G	TCGA-EJ-A46F-01A-31D-A257-08	3211023	157154782	40867648	9	6082											
MCTP1	79772	broad.mit.edu	37	chr5	94353187	94353187	+	Splice_Site	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttccagcagtgtttattattTtctggaaaacacgaaatata	14	15	6	6	1	1	0	0	0	1	0	2	2	2	1	1	1	2	2	1	1	7	8			TCGA-EJ-A46F-01A-31D-A257-08	TCGA-EJ-A46F-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc6d5463-8229-4c14-b625-910f36daf247	a3cec60f-0430-4c8a-b14c-1fec64f3e1ac	g.chr5:94353187T>A	ENST00000515393.1	-	2	721	c.722A>T	c.(721-723)aAa>aTa	p.K241I	MCTP1_ENST00000312216.8_Splice_Site_p.K20I|MCTP1_ENST00000505208.1_Splice_Site_p.K20I|MCTP1_ENST00000429576.2_Splice_Site_p.K20I	NM_024717.4	NP_078993.4	Q6DN14	MCTP1_HUMAN	multiple C2 domains, transmembrane 1	241					calcium-mediated signaling (GO:0019722)	integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)			breast(1)|endometrium(3)|large_intestine(13)|liver(2)|lung(13)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1)	41		all_cancers(142;1.68e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0167)|Lung NSC(167;0.0207)|Ovarian(225;0.0218)|Colorectal(57;0.207)		all cancers(79;9.1e-17)		GTTTATTATTTTCTGGAAAAC	0.343																																						ENST00000515393.1																			0				breast(1)|endometrium(3)|large_intestine(13)|liver(2)|lung(13)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1)	41						c.e2-1		multiple C2 domains, transmembrane 1							61	60	60					5																	94353187		2203	4300	6503	SO:0001630	splice_region_variant	79772				calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding	g.chr5:94353187T>A		CCDS34203.1, CCDS47247.1, CCDS75275.1	5q15	2008-02-05			ENSG00000175471	ENSG00000175471			26183	protein-coding gene	gene with protein product						15528213	Standard	XM_005272082		Approved	FLJ22344	uc003kkx.2	Q6DN14	OTTHUMG00000162742	ENST00000515393.1:c.721-1A>T	5.37:g.94353187T>A						MCTP1_ENST00000312216.8_Splice_Site_p.K20_splice|MCTP1_ENST00000429576.2_Splice_Site_p.K20_splice|MCTP1_ENST00000505208.1_Splice_Site_p.K20_splice	p.K241_splice	NM_024717.4	NP_078993.4	Q6DN14	MCTP1_HUMAN		all cancers(79;9.1e-17)	2	721	-		all_cancers(142;1.68e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0167)|Lung NSC(167;0.0207)|Ovarian(225;0.0218)|Colorectal(57;0.207)	241					Q6DN13|Q8N2W1|Q8NBA2|Q96LX0|Q9H6E8	Splice_Site	SNP	ENST00000515393.1	37	c.720_splice	CCDS34203.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	14.33|14.33	2.503983|2.503983	0.44558|0.44558	.|.	.|.	ENSG00000175471|ENSG00000175471	ENST00000503301|ENST00000515393;ENST00000429576;ENST00000312216;ENST00000508509;ENST00000505208;ENST00000507214;ENST00000514780;ENST00000510732;ENST00000505465	.|T;T;T;T;T;T;T;D;T	.|0.82711	.|-1.2;-0.93;-1.1;-0.93;-1.21;-1.09;-1.23;-1.64;0.61	5.86|5.86	4.73|4.73	0.59995|0.59995	.|.	.|2.596890	.|0.02225	.|N	.|0.064363	T|T	0.72708|0.72708	0.3494|0.3494	N|N	0.08118|0.08118	0|0	0.26511|0.26511	N|N	0.974594|0.974594	.|P;P;B	.|0.42123	.|0.771;0.693;0.0	.|B;B;B	.|0.43783	.|0.424;0.431;0.001	T|T	0.66212|0.66212	-0.5980|-0.5980	5|10	.|0.41790	.|T	.|0.15	-5.6433|-5.6433	4.5406|4.5406	0.12056|0.12056	0.0:0.1912:0.0:0.8088|0.0:0.1912:0.0:0.8088	.|.	.|241;20;20	.|Q6DN14;Q6DN14-3;Q6DN14-2	.|MCTP1_HUMAN;.;.	D|I	49|241;20;20;20;20;2;1;35;20	.|ENSP00000424126:K241I;ENSP00000391639:K20I;ENSP00000308957:K20I;ENSP00000423410:K20I;ENSP00000426438:K20I;ENSP00000424936:K2I;ENSP00000421543:K1I;ENSP00000422219:K35I;ENSP00000422317:K20I	.|ENSP00000308957:K20I	E|K	-|-	3|2	2|0	MCTP1|MCTP1	94378943|94378943	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.550000|0.550000	0.35303|0.35303	2.006000|2.006000	0.40874|0.40874	2.241000|2.241000	0.73720|0.73720	0.533000|0.533000	0.62120|0.62120	GAA|AAA		0.343	MCTP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000370280.3	NM_024717	Missense_Mutation	27	22	0	0	0	1	0	27	22					A	94353187	T	A	94353187	5	1	114	1	0	0	0	0	0	0	1	0	9400	1855	64	5	2365	5	MCTP1	5	94353187	Splice_Site	SNP	T	TCGA-EJ-A46F-01A-31D-A257-08		94353187	86562073	10	6083											
FAM81B	153643	broad.mit.edu	37	chr5	94782294	94782294	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cactttcaagtaatctgtacGaagaagttgagaataataaa	18	11	7	5	1	2	2	1	1	1	2	2	4	2	2	0	0	1	3	0	0	9	6	rs370398727		TCGA-EJ-A46F-01A-31D-A257-08	TCGA-EJ-A46F-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc6d5463-8229-4c14-b625-910f36daf247	a3cec60f-0430-4c8a-b14c-1fec64f3e1ac	g.chr5:94782294G>A	ENST00000283357.5	+	8	968	c.922G>A	c.(922-924)Gaa>Aaa	p.E308K		NM_152548.2	NP_689761	Q96LP2	FA81B_HUMAN	family with sequence similarity 81, member B	308						nucleus (GO:0005634)				central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_cancers(142;1.1e-06)|all_epithelial(76;1.48e-09)|all_lung(232;0.000696)|Lung NSC(167;0.000947)|Ovarian(225;0.00473)		all cancers(79;1.04e-16)		TAATCTGTACGAAGAAGTTGA	0.279																																						ENST00000283357.5																			0				central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						c.(922-924)Gaa>Aaa		family with sequence similarity 81, member B		G	LYS/GLU	0,3578		0,0,1789	34	31	32		922	4.5	0.4	5		32	1,8129		0,1,4064	no	missense	FAM81B	NM_152548.2	56	0,1,5853	AA,AG,GG		0.0123,0.0,0.0085	probably-damaging	308/453	94782294	1,11707	1789	4065	5854	SO:0001583	missense	153643							g.chr5:94782294G>A		CCDS43341.1	5q15	2008-02-05			ENSG00000153347	ENSG00000153347			26335	protein-coding gene	gene with protein product							Standard	NM_152548		Approved	FLJ25333	uc003kla.1	Q96LP2	OTTHUMG00000162837	ENST00000283357.5:c.922G>A	5.37:g.94782294G>A	ENSP00000283357:p.Glu308Lys						p.E308K	NM_152548.2	NP_689761.2	Q96LP2	FA81B_HUMAN		all cancers(79;1.04e-16)	8	968	+		all_cancers(142;1.1e-06)|all_epithelial(76;1.48e-09)|all_lung(232;0.000696)|Lung NSC(167;0.000947)|Ovarian(225;0.00473)	308						Missense_Mutation	SNP	ENST00000283357.5	37	c.922G>A	CCDS43341.1	.	.	.	.	.	.	.	.	.	.	G	19.03	3.748721	0.69533	0.0	1.23E-4	ENSG00000153347	ENST00000283357	T	0.19394	2.15	5.37	4.5	0.54988	.	0.055378	0.64402	D	0.000001	T	0.43299	0.1241	M	0.69823	2.125	0.33547	D	0.595561	D	0.89917	1.0	D	0.85130	0.997	T	0.56347	-0.7994	10	0.28530	T	0.3	-17.7177	13.3893	0.60813	0.0766:0.0:0.9234:0.0	.	308	Q96LP2	FA81B_HUMAN	K	308	ENSP00000283357:E308K	ENSP00000283357:E308K	E	+	1	0	FAM81B	94808050	0.999000	0.42202	0.450000	0.26969	0.933000	0.57130	3.745000	0.55119	1.500000	0.48636	0.650000	0.86243	GAA		0.279	FAM81B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370690.1	NM_152548		9	20	0	0	0	1	0	9	20					A	94782294	G	A	94782294	3	1	114	1	0	0	0	0	1	0	0	0	5629	1059	37	2	952	2	FAM81B	5	94782294	Missense_Mutation	SNP	G	TCGA-EJ-A46F-01A-31D-A257-08	429107	94782294	86132966	11	6084											
RAPGEF6	51735	broad.mit.edu	37	chr5	130857100	130857102	+	In_Frame_Del	DEL	AAC	AAC	-																															tacctgatagatatcagataAactgctgcttccagagtcac																										TCGA-EJ-A46F-01A-31D-A257-08	TCGA-EJ-A46F-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc6d5463-8229-4c14-b625-910f36daf247	a3cec60f-0430-4c8a-b14c-1fec64f3e1ac	g.chr5:130857100_130857102delAAC	ENST00000509018.1	-	7	813_815	c.608_610delGTT	c.(607-612)agttta>ata	p.203_204SL>I	CTC-432M15.3_ENST00000514667.1_In_Frame_Del_p.253_254SL>I|RAPGEF6_ENST00000308008.6_In_Frame_Del_p.203_204SL>I|RAPGEF6_ENST00000296859.6_In_Frame_Del_p.203_204SL>I|RAPGEF6_ENST00000507093.1_In_Frame_Del_p.203_204SL>I|RAPGEF6_ENST00000510071.1_In_Frame_Del_p.203_204SL>I|RAPGEF6_ENST00000307984.5_In_Frame_Del_p.203_204SL>I	NM_001164386.1|NM_016340.5	NP_001157858.1|NP_057424.3	Q8TEU7	RPGF6_HUMAN	Rap guanine nucleotide exchange factor (GEF) 6	203					positive regulation of GTPase activity (GO:0043547)|Ras protein signal transduction (GO:0007265)|regulation of GTPase activity (GO:0043087)|regulation of small GTPase mediated signal transduction (GO:0051056)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	GTP-dependent protein binding (GO:0030742)|guanyl-nucleotide exchange factor activity (GO:0005085)|Ras GTPase binding (GO:0017016)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|skin(1)|stomach(1)	31			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0721)		ATATCAGATAAACTGCTGCTTCC	0.404																																					Melanoma(168;435 1955 13113 13877 23213)	ENST00000509018.1																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|skin(1)|stomach(1)	31						c.(607-612)ata>a		Rap guanine nucleotide exchange factor (GEF) 6																																				SO:0001651	inframe_deletion	51735				Ras protein signal transduction|regulation of GTPase activity|regulation of small GTPase mediated signal transduction	cytoplasm|plasma membrane	GTP-dependent protein binding|guanyl-nucleotide exchange factor activity|Ras GTPase binding	g.chr5:130857100_130857102delAAC	AF117947	CCDS34225.1, CCDS54897.1, CCDS54898.1, CCDS54899.1, CCDS54900.1	5q31.1	2008-02-05	2004-03-01	2004-03-02	ENSG00000158987	ENSG00000158987			20655	protein-coding gene	gene with protein product		610499	"PDZ domain containing guanine nucleotide exchange factor (GEF) 2"	PDZGEF2		11524421, 12095257	Standard	NM_016340		Approved	RA-GEF-2, PDZ-GEF2	uc010jdi.2	Q8TEU7	OTTHUMG00000162683	ENST00000509018.1:c.608_610delGTT	5.37:g.130857100_130857102delAAC	ENSP00000421684:p.Ser203_Leu204delinsIle					RAPGEF6_ENST00000510071.1_In_Frame_Del_p.SL203del|RAPGEF6_ENST00000308008.6_In_Frame_Del_p.SL203del|RAPGEF6_ENST00000296859.6_In_Frame_Del_p.SL203del|RAPGEF6_ENST00000307984.5_In_Frame_Del_p.SL203del|RAPGEF6_ENST00000507093.1_In_Frame_Del_p.SL203del|FNIP1_ENST00000514667.1_In_Frame_Del_p.SL253del	p.SL203del	NM_001164386.1|NM_016340.5	NP_001157858.1|NP_057424.3	Q8TEU7	RPGF6_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0721)	7	813_815	-			203					A3KN82|A5PLL6|B7ZML2|E9PDV7|Q8NI21|Q8TEU6|Q96PC1	In_Frame_Del	DEL	ENST00000509018.1	37	c.608_610delGTT	CCDS34225.1																																																																																				0.404	RAPGEF6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000370059.1	NM_016340		33	58						33	58	---	---	---	---	-	130857102	AAC	-	130857100	7	5	114	1	0	1	0	1	0	0	0	0	13048	11	1	0	4769	0	RAPGEF6	5	130857100	In_Frame_Del	DEL	AAC	TCGA-EJ-A46F-01A-31D-A257-08	36074806	130857100	50058160	12	6085											
RGL2	5863	broad.mit.edu	37	chr6	33263944	33263944	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggtccacccgggaccggagaTtgcggatgaggtcagcgctg	7	6	17	11	4	1	2	1	1	0	1	2	5	2	4	3	5	2	1	3	5	0	1	rs115737063	byFrequency	TCGA-EJ-A46F-01A-31D-A257-08	TCGA-EJ-A46F-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc6d5463-8229-4c14-b625-910f36daf247	a3cec60f-0430-4c8a-b14c-1fec64f3e1ac	g.chr6:33263944T>C	ENST00000497454.1	-	6	1124	c.629A>G	c.(628-630)aAt>aGt	p.N210S	PFDN6_ENST00000463584.1_Intron|RGL2_ENST00000437840.2_5'UTR|RGL2_ENST00000444031.2_Missense_Mutation_p.N128S	NM_001243738.1|NM_004761.4	NP_001230667.1|NP_004752.1	O15211	RGL2_HUMAN	ral guanine nucleotide dissociation stimulator-like 2	210	N-terminal Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00135}.				positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)	intracellular (GO:0005622)	Ras guanyl-nucleotide exchange factor activity (GO:0005088)			breast(2)|cervix(2)|endometrium(7)|kidney(2)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	34						GGACCGGAGATTGCGGATGAG	0.662													T|||	9	0.00179712	0	0	5008	,	,		14859	0.0089		0	False		,,,				2504	0					ENST00000497454.1																			0				breast(2)|cervix(2)|endometrium(7)|kidney(2)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	34						c.(628-630)aAt>aGt		ral guanine nucleotide dissociation stimulator-like 2							85	101	95					6																	33263944		2203	4300	6503	SO:0001583	missense	5863				Ras protein signal transduction|regulation of small GTPase mediated signal transduction	intracellular	Ras guanyl-nucleotide exchange factor activity	g.chr6:33263944T>C		CCDS4774.1	6p21.3	2010-02-17	2004-06-11	2004-06-16	ENSG00000237441	ENSG00000237441			9769	protein-coding gene	gene with protein product		602306	"RAB2, member RAS oncogene family-like"	RAB2L		8976381	Standard	NM_001243738		Approved	KE1.5, HKE1.5	uc003odv.3	O15211	OTTHUMG00000031072	ENST00000497454.1:c.629A>G	6.37:g.33263944T>C	ENSP00000420211:p.Asn210Ser					RGL2_ENST00000437840.2_5'UTR|PFDN6_ENST00000463584.1_Intron|RGL2_ENST00000444031.2_Missense_Mutation_p.N128S	p.N210S	NM_001243738.1|NM_004761.4	NP_001230667.1|NP_004752.1	O15211	RGL2_HUMAN			6	1124	-			210			N-terminal Ras-GEF.		B4DG72|Q5STK0|Q9Y3F3	Missense_Mutation	SNP	ENST00000497454.1	37	c.629A>G	CCDS4774.1	5	0.0022893772893772895	0	0.0	0	0.0	5	0.008741258741258742	0	0.0	T	8.851	0.944640	0.18356	.	.	ENSG00000237441	ENST00000497454;ENST00000421215;ENST00000444031	T;T	0.29655	1.56;1.56	4.88	4.88	0.63580	Ras guanine nucleotide exchange factor, domain (1);Ras-like guanine nucleotide exchange factor, N-terminal (2);	0.232813	0.42682	D	0.000677	T	0.08846	0.0219	L	0.36672	1.1	0.27273	N	0.958314	B;B	0.22414	0.069;0.067	B;B	0.18263	0.021;0.018	T	0.12426	-1.0548	10	0.22109	T	0.4	.	7.9303	0.29899	0.1829:0.0:0.0:0.8171	.	128;210	B4DG72;O15211	.;RGL2_HUMAN	S	210;74;128	ENSP00000420211:N210S;ENSP00000403070:N128S	ENSP00000400083:N74S	N	-	2	0	RGL2	33371922	1.000000	0.71417	1.000000	0.80357	0.922000	0.55478	1.303000	0.33470	2.032000	0.59987	0.523000	0.50628	AAT		0.662	RGL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076098.2			8	223	0	0	0	1	0	8	223					C	33263944	T	C	33263944	3	2	114	1	0	0	0	0	1	0	0	0	13277	1493	52	4	1756	4	RGL2	6	33263944	Missense_Mutation	SNP	T	TCGA-EJ-A46F-01A-31D-A257-08		33263944	137851123	13	6086											
SYNE1	23345	broad.mit.edu	37	chr6	152728304	152728304	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	caggcttactctcagcctatCcatgttttcttcaagtttct	7	17	5	12	0	4	0	2	0	3	0	6	0	5	0	2	1	2	3	2	1	3	6			TCGA-EJ-A46F-01A-31D-A257-08	TCGA-EJ-A46F-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc6d5463-8229-4c14-b625-910f36daf247	a3cec60f-0430-4c8a-b14c-1fec64f3e1ac	g.chr6:152728304C>T	ENST00000367255.5	-	45	7169	c.6568G>A	c.(6568-6570)Gat>Aat	p.D2190N	SYNE1_ENST00000423061.1_Missense_Mutation_p.D2197N|SYNE1_ENST00000448038.1_Missense_Mutation_p.D2197N|SYNE1_ENST00000341594.5_Missense_Mutation_p.D2227N|SYNE1_ENST00000265368.4_Missense_Mutation_p.D2190N|RP3-398G3.5_ENST00000458194.1_RNA	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	2190					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CTCAGCCTATCCATGTTTTCT	0.443										HNSCC(10;0.0054)																												ENST00000367255.5																			0				NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524						c.(6568-6570)Gat>Aat		spectrin repeat containing, nuclear envelope 1							114	95	101					6																	152728304		2203	4300	6503	SO:0001583	missense	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152728304C>T	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"myocyte nuclear envelope protein 1", "nuclear envelope spectrin repeat-1"	608441	"chromosome 6 open reading frame 98"	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.6568G>A	6.37:g.152728304C>T	ENSP00000356224:p.Asp2190Asn	HNSCC(10;0.0054)				SYNE1_ENST00000448038.1_Missense_Mutation_p.D2197N|SYNE1_ENST00000423061.1_Missense_Mutation_p.D2197N|SYNE1_ENST00000265368.4_Missense_Mutation_p.D2190N|SYNE1_ENST00000341594.5_Missense_Mutation_p.D2227N	p.D2190N	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	45	7169	-		Ovarian(120;0.0955)	2190					E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	c.6568G>A	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	C	14.43	2.532825	0.45073	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594	T;T;T;T;T	0.34275	1.37;1.37;1.37;1.37;1.38	5.4	5.4	0.78164	.	0.298003	0.28409	N	0.015451	T	0.19005	0.0456	L	0.43152	1.355	0.80722	D	1	P;B;B;B	0.36282	0.546;0.177;0.319;0.27	B;B;B;B	0.33454	0.164;0.033;0.045;0.066	T	0.02553	-1.1142	10	0.27082	T	0.32	.	16.567	0.84601	0.0:0.8699:0.1301:0.0	.	2173;2190;2190;2197	B3W695;Q8NF91;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.	N	2190;2197;2190;2197;2227	ENSP00000356224:D2190N;ENSP00000396024:D2197N;ENSP00000265368:D2190N;ENSP00000390975:D2197N;ENSP00000341887:D2227N	ENSP00000265368:D2190N	D	-	1	0	SYNE1	152769997	1.000000	0.71417	0.998000	0.56505	0.830000	0.47004	5.152000	0.64882	2.711000	0.92665	0.561000	0.74099	GAT		0.443	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		25	16	0	0	0	1	0	25	16					T	152728304	C	T	152728304	3	4	114	1	0	0	0	0	1	0	0	0	15442	855	30	3	20306	3	SYNE1	6	152728304	Missense_Mutation	SNP	C	TCGA-EJ-A46F-01A-31D-A257-08	119464360	152728304	18386763	14	6087											
MUC17	140453	broad.mit.edu	37	chr7	100683805	100683805	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	actgctgaaggtaccggcatAccaatctcaactcctagtga	12	9	8	12	1	1	2	1	2	1	0	3	2	2	2	3	2	4	3	3	2	6	3			TCGA-EJ-A46F-01A-31D-A257-08	TCGA-EJ-A46F-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc6d5463-8229-4c14-b625-910f36daf247	a3cec60f-0430-4c8a-b14c-1fec64f3e1ac	g.chr7:100683805A>T	ENST00000306151.4	+	3	9172	c.9108A>T	c.(9106-9108)atA>atT	p.I3036I		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	3036	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					GTACCGGCATACCAATCTCAA	0.507																																						ENST00000306151.4																			0				NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343						c.(9106-9108)atA>atT		mucin 17, cell surface associated							265	278	273					7																	100683805		2203	4300	6503	SO:0001819	synonymous_variant	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100683805A>T	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"Mucins"	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.9108A>T	7.37:g.100683805A>T							p.I3036I	NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN			3	9172	+	Lung NSC(181;0.136)|all_lung(186;0.182)		3036			59 X approximate tandem repeats.|Ser-rich.		O14761|Q685J2|Q8TDH7	Silent	SNP	ENST00000306151.4	37	c.9108A>T	CCDS34711.1																																																																																				0.507	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		242	223	0	0	0	1	0	242	223					T	100683805	A	T	100683805	2	4	114	1	0	0	0	0	0	0	0	1	9974	381	14	5		5	MUC17	7	100683805	Silent	SNP	A	TCGA-EJ-A46F-01A-31D-A257-08		100683805	58454858	15	6088											
DOCK4	9732	broad.mit.edu	37	chr7	111503618	111503618	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggaaagagctcagaaacacAgccttaaaaagaagaagaca	21	3	10	7	0	1	5	1	0	0	5	1	6	1	6	1	1	3	1	1	1	7	1			TCGA-EJ-A46F-01A-31D-A257-08	TCGA-EJ-A46F-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc6d5463-8229-4c14-b625-910f36daf247	a3cec60f-0430-4c8a-b14c-1fec64f3e1ac	g.chr7:111503618A>T	ENST00000437633.1	-	23	2539	c.2283T>A	c.(2281-2283)gcT>gcA	p.A761A	DOCK4_ENST00000428084.1_Silent_p.A761A|DOCK4_ENST00000476846.1_5'UTR	NM_014705.3	NP_055520.3	Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4	761					cell chemotaxis (GO:0060326)|positive regulation of Rac GTPase activity (GO:0032855)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)|stereocilium (GO:0032420)|stereocilium bundle (GO:0032421)	guanyl-nucleotide exchange factor activity (GO:0005085)|PDZ domain binding (GO:0030165)|Rac GTPase activator activity (GO:0030675)|Rac GTPase binding (GO:0048365)|receptor tyrosine kinase binding (GO:0030971)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72		Acute lymphoblastic leukemia(1;0.0441)				TCAGAAACACAGCCTTAAAAA	0.468																																						ENST00000428084.1																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72						c.(2281-2283)gcT>gcA		dedicator of cytokinesis 4							33	32	32					7																	111503618		1898	4111	6009	SO:0001819	synonymous_variant	9732				cell chemotaxis	cytosol|endomembrane system|membrane|stereocilium	GTP binding|guanyl-nucleotide exchange factor activity|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|receptor tyrosine kinase binding|SH3 domain binding	g.chr7:111503618A>T		CCDS47688.1	7q31.1	2007-08-07			ENSG00000128512	ENSG00000128512			19192	protein-coding gene	gene with protein product		607679				12432077, 12628187	Standard	XM_006716188		Approved	FLJ34238, KIAA0716	uc003vfx.3	Q8N1I0	OTTHUMG00000155077	ENST00000437633.1:c.2283T>A	7.37:g.111503618A>T						DOCK4_ENST00000437633.1_Silent_p.A761A|DOCK4_ENST00000476846.1_5'UTR	p.A761A			Q8N1I0	DOCK4_HUMAN			23	2555	-		Acute lymphoblastic leukemia(1;0.0441)	761					O14584|O94824|Q8NB45	Silent	SNP	ENST00000437633.1	37	c.2283T>A	CCDS47688.1	.	.	.	.	.	.	.	.	.	.	A	12.42	1.931808	0.34096	.	.	ENSG00000128512	ENST00000423057;ENST00000445943	.	.	.	5.23	0.208	0.15221	.	.	.	.	.	T	0.41766	0.1173	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.22068	-1.0227	4	.	.	.	.	1.4499	0.02372	0.498:0.1348:0.237:0.1301	.	.	.	.	Q	213;749	.	.	L	-	2	0	DOCK4	111290854	0.997000	0.39634	0.995000	0.50966	0.933000	0.57130	0.775000	0.26689	-0.105000	0.12132	-0.490000	0.04691	CTG		0.468	DOCK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338369.4	NM_014705		6	12	0	0	0	1	0	6	12					T	111503618	A	T	111503618	2	4	114	1	0	0	0	0	0	0	0	1	4689	175	7	5		5	DOCK4	7	111503618	Silent	SNP	A	TCGA-EJ-A46F-01A-31D-A257-08	10819813	111503618	47635045	16	6089											
DPYS	1807	broad.mit.edu	37	chr8	105393494	105393494	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cactctggatttcagtgtggCgacttctcccttatagggtg	6	14	11	10	1	3	0	1	0	2	0	4	2	3	1	1	3	0	0	1	3	2	4	rs368932527		TCGA-EJ-A46F-01A-31D-A257-08	TCGA-EJ-A46F-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc6d5463-8229-4c14-b625-910f36daf247	a3cec60f-0430-4c8a-b14c-1fec64f3e1ac	g.chr8:105393494C>T	ENST00000351513.2	-	9	1624	c.1492G>A	c.(1492-1494)Gcc>Acc	p.A498T	DPYS_ENST00000521601.1_5'UTR	NM_001385.2	NP_001376.1	Q14117	DPYS_HUMAN	dihydropyrimidinase	498					beta-alanine metabolic process (GO:0019482)|nucleobase-containing small molecule metabolic process (GO:0055086)|protein homotetramerization (GO:0051289)|pyrimidine nucleobase catabolic process (GO:0006208)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|small molecule metabolic process (GO:0044281)|thymine catabolic process (GO:0006210)|uracil catabolic process (GO:0006212)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	amino acid binding (GO:0016597)|dihydropyrimidinase activity (GO:0004157)|thymine binding (GO:0002059)|uracil binding (GO:0002058)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229)			TTCAGTGTGGCGACTTCTCCC	0.488																																						ENST00000351513.2																			0				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						c.(1492-1494)Gcc>Acc		dihydropyrimidinase		C	THR/ALA	1,4405	2.1+/-5.4	0,1,2202	266	221	236		1492	-2.6	0	8		236	0,8600		0,0,4300	no	missense	DPYS	NM_001385.2	58	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign	498/520	105393494	1,13005	2203	4300	6503	SO:0001583	missense	1807				protein homotetramerization|pyrimidine nucleoside catabolic process|thymine catabolic process|uracil catabolic process	cytosol	dihydropyrimidinase activity|zinc ion binding	g.chr8:105393494C>T	D78011	CCDS6302.1	8q22	2004-01-22			ENSG00000147647	ENSG00000147647			3013	protein-coding gene	gene with protein product		613326				8973361	Standard	NM_001385		Approved	DHPase	uc003yly.4	Q14117	OTTHUMG00000164891	ENST00000351513.2:c.1492G>A	8.37:g.105393494C>T	ENSP00000276651:p.Ala498Thr					DPYS_ENST00000521601.1_5'UTR	p.A498T	NM_001385.2	NP_001376.1	Q14117	DPYS_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229)		9	1624	-			498						Missense_Mutation	SNP	ENST00000351513.2	37	c.1492G>A	CCDS6302.1	.	.	.	.	.	.	.	.	.	.	C	11.21	1.570479	0.28003	2.27E-4	0.0	ENSG00000147647	ENST00000351513	D	0.97831	-4.56	5.85	-2.6	0.06190	.	1.112990	0.06573	N	0.748930	D	0.94374	0.8191	L	0.36672	1.1	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	D	0.84688	0.0721	10	0.22706	T	0.39	-0.815	11.2061	0.48771	0.0:0.3349:0.0:0.6651	.	498	Q14117	DPYS_HUMAN	T	498	ENSP00000276651:A498T	ENSP00000276651:A498T	A	-	1	0	DPYS	105462670	0.000000	0.05858	0.000000	0.03702	0.211000	0.24417	-1.106000	0.03319	-0.963000	0.03600	-1.036000	0.02392	GCC		0.488	DPYS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380814.1	NM_001385		40	83	0	0	0	1	0	40	83					T	105393494	C	T	105393494	3	4	114	1	0	0	0	0	1	0	0	0	4746	768	27	1	71	1	DPYS	8	105393494	Missense_Mutation	SNP	C	TCGA-EJ-A46F-01A-31D-A257-08		105393494	40970528	17	6090											
ZFAT	57623	broad.mit.edu	37	chr8	135612748	135612748	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gttgagtagtcacagccatcGgtgggacacttcagcaagat	11	9	12	9	1	2	2	2	1	0	1	3	3	2	3	1	2	2	3	1	2	2	3	rs144002982	byFrequency	TCGA-EJ-A46F-01A-31D-A257-08	TCGA-EJ-A46F-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc6d5463-8229-4c14-b625-910f36daf247	a3cec60f-0430-4c8a-b14c-1fec64f3e1ac	g.chr8:135612748G>A	ENST00000377838.3	-	7	2580	c.2406C>T	c.(2404-2406)acC>acT	p.T802T	ZFAT_ENST00000520214.1_Silent_p.T790T|ZFAT_ENST00000523399.1_Silent_p.T740T|ZFAT-AS1_ENST00000505776.1_RNA|ZFAT_ENST00000429442.2_Silent_p.T790T|ZFAT_ENST00000520727.1_Silent_p.T790T|ZFAT_ENST00000520356.1_Silent_p.T790T	NM_001174157.1|NM_020863.3	NP_001167628.1|NP_065914.2	Q9P243	ZFAT_HUMAN	zinc finger and AT hook domain containing	802					hematopoietic progenitor cell differentiation (GO:0002244)|spongiotrophoblast layer development (GO:0060712)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(9)|large_intestine(8)|lung(16)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0432)			CACAGCCATCGGTGGGACACT	0.448													G|||	2	0.000399361	8e-04	0	5008	,	,		16996	0		0	False		,,,				2504	0.001					ENST00000520727.1																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(9)|large_intestine(8)|lung(16)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	54						c.(2368-2370)acC>acT		zinc finger and AT hook domain containing							181	178	179					8																	135612748		1965	4152	6117	SO:0001819	synonymous_variant	57623				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	DNA binding|zinc ion binding	g.chr8:135612748G>A	BC025423	CCDS43768.1, CCDS47924.1, CCDS43768.2, CCDS55275.1, CCDS55276.1	8q24.23	2008-06-05	2008-01-25	2008-01-25	ENSG00000066827	ENSG00000066827		"Zinc fingers, C2H2-type"	19899	protein-coding gene	gene with protein product		610931	"zinc finger protein 406"	ZNF406, ZFAT1		10819331, 18329245	Standard	NM_020863		Approved	KIAA1485	uc003yup.3	Q9P243	OTTHUMG00000164321	ENST00000377838.3:c.2406C>T	8.37:g.135612748G>A						ZFAT_ENST00000429442.2_Silent_p.T790T|ZFAT-AS1_ENST00000505776.1_RNA|ZFAT_ENST00000523399.1_Silent_p.T740T|ZFAT_ENST00000520356.1_Silent_p.T790T|ZFAT_ENST00000520214.1_Silent_p.T790T|ZFAT_ENST00000377838.3_Silent_p.T802T	p.T790T	NM_001029939.3	NP_001025110.2	Q9P243	ZFAT_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0432)		8	2669	-	all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155)		802					B7ZL15|E9PER3|Q3MIM5|Q6PJ01|Q75PJ6|Q75PJ7|Q75PJ9|Q86X64	Silent	SNP	ENST00000377838.3	37	c.2370C>T	CCDS47924.1																																																																																				0.448	ZFAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378272.1	NM_001029939		17	231	0	0	0	1	0	17	231					A	135612748	G	A	135612748	2	1	114	1	0	0	0	0	0	0	0	1	17629	1103	39	2		2	ZFAT	8	135612748	Silent	SNP	G	TCGA-EJ-A46F-01A-31D-A257-08	30219254	135612748	10751274	18	6091											
FAM22G	441457	broad.mit.edu	37	chr9	99697711	99697711	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcacacgagcaactttgaccGgatgattttctacgagatgg	11	10	11	9	3	1	3	0	2	1	1	1	6	1	4	1	2	3	2	1	2	2	4	rs559136580	byFrequency	TCGA-EJ-A46F-01A-31D-A257-08	TCGA-EJ-A46F-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc6d5463-8229-4c14-b625-910f36daf247	a3cec60f-0430-4c8a-b14c-1fec64f3e1ac	g.chr9:99697711G>A	ENST00000372322.3	+	3	836	c.815G>A	c.(814-816)cGg>cAg	p.R272Q	HIATL2_ENST00000506067.1_Intron|NUTM2G_ENST00000354649.3_Missense_Mutation_p.R272Q	NM_001170741.1	NP_001164212.1	Q5VZR2	NTM2G_HUMAN	NUT family member 2G	272																	AACTTTGACCGGATGATTTTC	0.652													.|||	14	0.00279553	0	0.0187	5008	,	,		17284	0		0	False		,,,				2504	0.001					ENST00000354649.3																			0											c.(814-816)cGg>cAg		NUT family member 2G							58	61	60					9																	99697711		2037	4197	6234	SO:0001583	missense	441457							g.chr9:99697711G>A		CCDS43854.1, CCDS55329.1	9q22.33	2013-05-02	2013-03-14	2013-05-02	ENSG00000188152	ENSG00000188152			23449	protein-coding gene	gene with protein product			"family with sequence similarity 22, member G"	FAM22G			Standard	NM_001045477		Approved			Q5VZR2	OTTHUMG00000020305	ENST00000372322.3:c.815G>A	9.37:g.99697711G>A	ENSP00000361397:p.Arg272Gln					NUTM2G_ENST00000372322.3_Missense_Mutation_p.R272Q|HIATL2_ENST00000506067.1_Intron	p.R272Q	NM_001045477.2	NP_001038942.1					3	1530	+								A6NNI5|Q5VZR3	Missense_Mutation	SNP	ENST00000372322.3	37	c.815G>A	CCDS55329.1	.	.	.	.	.	.	.	.	.	.	.	15.14	2.744305	0.49151	.	.	ENSG00000188152	ENST00000354649;ENST00000372322;ENST00000375230	T;T	0.37752	1.18;1.18	1.17	1.17	0.20885	.	0.136860	0.34088	N	0.004279	T	0.47432	0.1445	M	0.74647	2.275	0.18873	N	0.999987	D	0.71674	0.998	P	0.58780	0.845	T	0.26087	-1.0113	10	0.87932	D	0	.	5.7733	0.18265	0.0:0.0:1.0:0.0	.	272	Q5VZR2-2	.	Q	272;272;153	ENSP00000346670:R272Q;ENSP00000361397:R272Q	ENSP00000346670:R272Q	R	+	2	0	FAM22G	98737532	0.994000	0.37717	0.335000	0.25508	0.094000	0.18550	2.613000	0.46351	0.989000	0.38761	0.291000	0.19559	CGG		0.652	NUTM2G-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053291.2	NM_001170741		7	95	0	0	0	1	0	7	95					A	99697711	G	A	99697711	3	1	114	1	0	0	0	0	1	0	0	0	5546	1116	39	2	825	2	FAM22G	9	99697711	Missense_Mutation	SNP	G	TCGA-EJ-A46F-01A-31D-A257-08		99697711	41515720	19	6092											
CUBN	8029	broad.mit.edu	37	chr10	16882353	16882353	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggtgagtcctgaagctgtaaGtaattctgcgtgcagtcttg	8	13	13	7	1	2	2	0	2	2	0	3	2	3	2	1	1	3	4	1	1	3	4			TCGA-EJ-A46F-01A-31D-A257-08	TCGA-EJ-A46F-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc6d5463-8229-4c14-b625-910f36daf247	a3cec60f-0430-4c8a-b14c-1fec64f3e1ac	g.chr10:16882353G>C	ENST00000377833.4	-	62	10073	c.10008C>G	c.(10006-10008)taC>taG	p.Y3336*		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	3336	CUB 25. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cholesterol metabolic process (GO:0008203)|cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|tissue homeostasis (GO:0001894)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|cobalamin binding (GO:0031419)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)|transporter activity (GO:0005215)			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	GAAGCTGTAAGTAATTCTGCG	0.443																																						ENST00000377833.4																			0				breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241						c.(10006-10008)taC>taG		cubilin (intrinsic factor-cobalamin receptor)	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)						116	100	106					10																	16882353		2203	4300	6503	SO:0001587	stop_gained	8029				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity	g.chr10:16882353G>C	AF034611	CCDS7113.1	10p12	2014-09-17			ENSG00000107611	ENSG00000107611			2548	protein-coding gene	gene with protein product		602997		MGA1		9572993, 9478979	Standard	NM_001081		Approved	IFCR, gp280	uc001ioo.3	O60494	OTTHUMG00000017741	ENST00000377833.4:c.10008C>G	10.37:g.16882353G>C	ENSP00000367064:p.Tyr3336*						p.Y3336*	NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN			62	10073	-			3336			CUB 25.		B0YIZ4|Q5VTA6|Q96RU9	Nonsense_Mutation	SNP	ENST00000377833.4	37	c.10008C>G	CCDS7113.1	.	.	.	.	.	.	.	.	.	.	G	50	16.583094	0.99867	.	.	ENSG00000107611	ENST00000377833;ENST00000545090	.	.	.	4.74	3.84	0.44239	.	0.234344	0.21946	N	0.066809	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.0059	0.41957	0.1634:0.0:0.8366:0.0	.	.	.	.	X	3336;177	.	ENSP00000367064:Y3336X	Y	-	3	2	CUBN	16922359	1.000000	0.71417	0.998000	0.56505	0.384000	0.30261	2.552000	0.45828	0.991000	0.38814	0.561000	0.74099	TAC		0.443	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047009.1	NM_001081		4	71	0	0	0	1	0	4	71					C	16882353	G	C	16882353	4	2	114	1	0	0	0	0	0	1	0	0	4051	1024	36	5	887	5	CUBN	10	16882353	Nonsense_Mutation	SNP	G	TCGA-EJ-A46F-01A-31D-A257-08		16882353	118652394	20	6093											
ARID5B	84159	broad.mit.edu	37	chr10	63810670	63810670	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caaatcttaaaggcagaccaCgcaaaaagaaaccatgccca	19	4	6	12	1	1	2	0	0	1	2	1	2	1	2	3	1	2	2	3	1	6	1			TCGA-EJ-A46F-01A-31D-A257-08	TCGA-EJ-A46F-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc6d5463-8229-4c14-b625-910f36daf247	a3cec60f-0430-4c8a-b14c-1fec64f3e1ac	g.chr10:63810670C>T	ENST00000279873.7	+	5	1167	c.757C>T	c.(757-759)Cgc>Tgc	p.R253C	ARID5B_ENST00000309334.5_Missense_Mutation_p.R10C	NM_032199.2	NP_115575.1	Q14865	ARI5B_HUMAN	AT rich interactive domain 5B (MRF1-like)	253					adipose tissue development (GO:0060612)|adrenal gland development (GO:0030325)|cell development (GO:0048468)|face morphogenesis (GO:0060325)|fat cell differentiation (GO:0045444)|fat pad development (GO:0060613)|female gonad development (GO:0008585)|fibroblast migration (GO:0010761)|kidney development (GO:0001822)|liver development (GO:0001889)|male gonad development (GO:0008584)|multicellular organism growth (GO:0035264)|muscle organ morphogenesis (GO:0048644)|negative regulation of transcription, DNA-templated (GO:0045892)|palate development (GO:0060021)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|post-embryonic development (GO:0009791)|skeletal system morphogenesis (GO:0048705)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(2)|endometrium(13)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	Prostate(12;0.016)|all_hematologic(501;0.215)					AGGCAGACCACGCAAAAAGAA	0.398																																						ENST00000279873.7																			0				NS(1)|breast(2)|endometrium(13)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44						c.(757-759)Cgc>Tgc		AT rich interactive domain 5B (MRF1-like)							135	125	128					10																	63810670		2203	4300	6503	SO:0001583	missense	84159				liver development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent		protein binding|transcription regulatory region DNA binding	g.chr10:63810670C>T	M73837	CCDS31208.1, CCDS58082.1	10q11.22	2013-02-07			ENSG00000150347	ENSG00000150347		"-"	17362	protein-coding gene	gene with protein product		608538				11483573, 11478881	Standard	NM_032199		Approved	FLJ21150, MRF2	uc001jlt.2	Q14865	OTTHUMG00000018298	ENST00000279873.7:c.757C>T	10.37:g.63810670C>T	ENSP00000279873:p.Arg253Cys					ARID5B_ENST00000309334.5_Missense_Mutation_p.R10C	p.R253C	NM_032199.2	NP_115575.1	Q14865	ARI5B_HUMAN			5	1167	+	Prostate(12;0.016)|all_hematologic(501;0.215)		253					B4DLB3|Q05DG6|Q32Q59|Q5VST4|Q6NZ42|Q7Z3M4|Q8N421|Q9H786	Missense_Mutation	SNP	ENST00000279873.7	37	c.757C>T	CCDS31208.1	.	.	.	.	.	.	.	.	.	.	C	30	5.053493	0.93793	.	.	ENSG00000150347	ENST00000279873;ENST00000309334	T;T	0.26223	1.75;1.75	6.03	6.03	0.97812	.	0.149203	0.64402	D	0.000008	T	0.54565	0.1866	M	0.70275	2.135	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.997;0.998;0.997	T	0.52571	-0.8558	10	0.87932	D	0	-20.5894	20.5568	0.99304	0.0:1.0:0.0:0.0	.	253;10;253	Q14865-3;Q14865-2;Q14865	.;.;ARI5B_HUMAN	C	253;10	ENSP00000279873:R253C;ENSP00000308862:R10C	ENSP00000279873:R253C	R	+	1	0	ARID5B	63480676	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.334000	0.72944	2.861000	0.98227	0.655000	0.94253	CGC		0.398	ARID5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048233.1	XM_084482		22	44	0	0	0	1	0	22	44					T	63810670	C	T	63810670	3	4	114	1	0	0	0	0	1	0	0	0	922	536	19	1	775	1	ARID5B	10	63810670	Missense_Mutation	SNP	C	TCGA-EJ-A46F-01A-31D-A257-08	46928317	63810670	71724077	21	6094											
CSRP3	8048	broad.mit.edu	37	chr11	19213897	19213897	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aactcactgcagtggaaacaCgtcttgtggaaactccttcc	11	10	8	12	1	2	0	1	0	1	0	4	2	4	2	2	2	4	1	2	2	3	2	rs147549410		TCGA-EJ-A46F-01A-31D-A257-08	TCGA-EJ-A46F-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc6d5463-8229-4c14-b625-910f36daf247	a3cec60f-0430-4c8a-b14c-1fec64f3e1ac	g.chr11:19213897C>T	ENST00000533783.1	-	3	339	c.99G>A	c.(97-99)acG>acA	p.T33T	CSRP3_ENST00000265968.3_Silent_p.T33T	NM_003476.4	NP_003467.1	P50461	CSRP3_HUMAN	cysteine and glycine-rich protein 3 (cardiac LIM protein)	33	LIM zinc-binding 1. {ECO:0000255|PROSITE- ProRule:PRU00125}.				cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue development (GO:0048738)|cardiac myofibril assembly (GO:0055003)|cellular calcium ion homeostasis (GO:0006874)|detection of muscle stretch (GO:0035995)|protein localization to organelle (GO:0033365)|regulation of the force of heart contraction (GO:0002026)|skeletal muscle tissue development (GO:0007519)	cytoskeleton (GO:0005856)|nucleus (GO:0005634)|Z disc (GO:0030018)	actinin binding (GO:0042805)|structural constituent of muscle (GO:0008307)|telethonin binding (GO:0031433)|zinc ion binding (GO:0008270)			kidney(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(2)	10						AGTGGAAACACGTCTTGTGGA	0.517																																						ENST00000533783.1																			0				kidney(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(2)	10						c.(97-99)acG>acA		cysteine and glycine-rich protein 3 (cardiac LIM protein)		C	,	0,4398		0,0,2199	135	105	115		99,99	0.6	1	11	dbSNP_134	115	1,8585	1.2+/-3.3	0,1,4292	no	coding-synonymous,coding-synonymous	CSRP3	NM_001127656.1,NM_003476.3	,	0,1,6491	TT,TC,CC		0.0116,0.0,0.0077	,	33/195,33/195	19213897	1,12983	2199	4293	6492	SO:0001819	synonymous_variant	8048				cell differentiation|skeletal muscle tissue development	cytoskeleton|nucleus	protein binding|zinc ion binding	g.chr11:19213897C>T	U20324	CCDS7848.1	11p15.1	2014-09-17				ENSG00000129170			2472	protein-coding gene	gene with protein product		600824				7490106	Standard	NM_003476		Approved	CLP, MLP, CMD1M	uc001mpk.3	P50461		ENST00000533783.1:c.99G>A	11.37:g.19213897C>T						CSRP3_ENST00000265968.3_Silent_p.T33T	p.T33T	NM_003476.4	NP_003467.1	P50461	CSRP3_HUMAN			3	339	-			33			LIM zinc-binding 1.		Q9P131	Silent	SNP	ENST00000533783.1	37	c.99G>A	CCDS7848.1																																																																																				0.517	CSRP3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394484.1	NM_003476		3	47	0	0	0	1	0	3	47					T	19213897	C	T	19213897	2	4	114	1	0	0	0	0	0	0	0	1	3969	523	19	1		1	CSRP3	11	19213897	Silent	SNP	C	TCGA-EJ-A46F-01A-31D-A257-08		19213897	115792619	22	6095											
FAM89B	23625	broad.mit.edu	37	chr11	65340909	65340909	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agtcaatccaggactacaaaCacctgtgccaagacctgagc	14	6	8	13	0	1	2	1	1	0	1	2	3	2	3	4	1	4	0	4	1	4	1			TCGA-EJ-A46F-01A-31D-A257-08	TCGA-EJ-A46F-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc6d5463-8229-4c14-b625-910f36daf247	a3cec60f-0430-4c8a-b14c-1fec64f3e1ac	g.chr11:65340909C>A	ENST00000530349.1	+	2	509	c.367C>A	c.(367-369)Cac>Aac	p.H123N	FAM89B_ENST00000316409.2_Missense_Mutation_p.H110N|EHBP1L1_ENST00000309295.4_5'Flank|FAM89B_ENST00000449319.2_Missense_Mutation_p.T126K			Q8N5H3	FA89B_HUMAN	family with sequence similarity 89, member B	123					negative regulation of SMAD protein import into nucleus (GO:0060392)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)	cytoplasm (GO:0005737)	transcription corepressor binding (GO:0001222)			large_intestine(1)|urinary_tract(2)	3						GGACTACAAACACCTGTGCCA	0.612																																						ENST00000316409.2																			0				large_intestine(1)|urinary_tract(2)	3						c.(328-330)Cac>Aac		family with sequence similarity 89, member B							89	69	76					11																	65340909		2201	4297	6498	SO:0001583	missense	23625							g.chr11:65340909C>A	AF052151	CCDS8105.1, CCDS44648.1, CCDS53662.1	11q23	2007-12-04				ENSG00000176973			16708	protein-coding gene	gene with protein product						9525630, 10512749	Standard	NM_152832		Approved		uc001oel.2	Q8N5H3		ENST00000530349.1:c.367C>A	11.37:g.65340909C>A	ENSP00000431459:p.His123Asn					FAM89B_ENST00000530349.1_Missense_Mutation_p.H123N|FAM89B_ENST00000449319.2_Missense_Mutation_p.T126K	p.H110N	NM_001098784.1|NM_001098785.1|NM_152832.2	NP_001092254.1|NP_001092255.1|NP_690045.1	Q8N5H3	FA89B_HUMAN			2	649	+			110					E9PB01|E9PL72|Q6PJ27	Missense_Mutation	SNP	ENST00000530349.1	37	c.328C>A	CCDS53662.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.52|14.52	2.559206|2.559206	0.45590|0.45590	.|.	.|.	ENSG00000173465;ENSG00000176973;ENSG00000176973;ENSG00000176973|ENSG00000176973	ENST00000526433;ENST00000316409;ENST00000530349;ENST00000377088|ENST00000449319	.|.	.|.	.|.	4.64|4.64	4.64|4.64	0.57946|0.57946	.|.	0.000000|.	0.37483|.	N|.	0.002062|.	T|T	0.46756|0.46756	0.1409|0.1409	L|L	0.29908|0.29908	0.895|0.895	0.35020|0.35020	D|D	0.757759|0.757759	P;P|B	0.40834|0.14012	0.73;0.73|0.009	B;B|B	0.41236|0.13407	0.351;0.351|0.009	T|T	0.56709|0.56709	-0.7934|-0.7934	9|8	0.22706|0.66056	T|D	0.39|0.02	-21.4159|-21.4159	12.8835|12.8835	0.58030|0.58030	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	110;123|126	Q8N5H3;E9PL72|E9PB01	FA89B_HUMAN;.|.	N|K	79;110;123;96|126	.|.	ENSP00000314829:H110N|ENSP00000402439:T126K	H|T	+|+	1|2	0|0	SSSCA1;FAM89B|FAM89B	65097485|65097485	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.894000|0.894000	0.52154|0.52154	1.359000|1.359000	0.34113|0.34113	2.402000|2.402000	0.81655|0.81655	0.561000|0.561000	0.74099|0.74099	CAC|ACA		0.612	FAM89B-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390095.1	NM_152832		3	30	1	0	1	1	1	3	30					A	65340909	C	A	65340909	3	1	114	1	0	0	0	0	1	0	0	0	5648	478	17	5	383	5	FAM89B	11	65340909	Missense_Mutation	SNP	C	TCGA-EJ-A46F-01A-31D-A257-08	46127012	65340909	69665607	23	6096											
DKFZp761E198	91056	broad.mit.edu	37	chr11	65545388	65545388	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggggcagcacggcccagtcaTcggtccgcagggccacaggc	7	3	16	15	3	1	0	1	0	0	0	3	0	2	0	3	6	1	3	3	6	0	0			TCGA-EJ-A46F-01A-31D-A257-08	TCGA-EJ-A46F-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc6d5463-8229-4c14-b625-910f36daf247	a3cec60f-0430-4c8a-b14c-1fec64f3e1ac	g.chr11:65545388T>C	ENST00000532090.2	-	2	2786	c.2576A>G	c.(2575-2577)gAt>gGt	p.D859G		NM_138368.4	NP_612377.4	Q2VPB7	AP5B1_HUMAN	adaptor-related protein complex 5, beta 1 subunit	859					endosomal transport (GO:0016197)|protein transport (GO:0015031)	AP-type membrane coat adaptor complex (GO:0030119)|lysosomal membrane (GO:0005765)				lung(1)	1						GGCCCAGTCATCGGTCCGCAG	0.697																																						ENST00000532090.2																			0				lung(1)	1						c.(2575-2577)gAt>gGt		adaptor-related protein complex 5, beta 1 subunit							8	11	10					11																	65545388		1977	4089	6066	SO:0001583	missense	91056						protein binding	g.chr11:65545388T>C	JQ313135	CCDS58146.1	11q13.1	2012-02-29			ENSG00000254470	ENSG00000254470			25104	protein-coding gene	gene with protein product		614367				22022230	Standard	NM_138368		Approved	PP1030, AP-5, DKFZp761E198	uc031qbm.1	Q2VPB7	OTTHUMG00000166593	ENST00000532090.2:c.2576A>G	11.37:g.65545388T>C	ENSP00000454303:p.Asp859Gly						p.D859G	NM_138368.4	NP_612377.4	Q2VPB7	YK046_HUMAN			2	2786	-			802					A1L0S6|H6WUK2|Q0D2Q2|Q8N3J7|Q8WYH6	Missense_Mutation	SNP	ENST00000532090.2	37	c.2576A>G	CCDS58146.1																																																																																				0.697	AP5B1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390636.2	NM_138368		5	2	0	0	0	1	0	5	2					C	65545388	T	C	65545388	3	2	114	1	0	0	0	0	1	0	0	0	4543	1435	50	4	64	4	DKFZp761E198	11	65545388	Missense_Mutation	SNP	T	TCGA-EJ-A46F-01A-31D-A257-08	204479	65545388	69461128	24	6097											
GAB2	9846	broad.mit.edu	37	chr11	77930359	77930359	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggctctgaggactgccgcaCgtctgtccactcctgcatgg	6	9	12	14	2	2	1	0	1	2	0	4	2	4	2	3	3	2	3	3	3	0	0			TCGA-EJ-A46F-01A-31D-A257-08	TCGA-EJ-A46F-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc6d5463-8229-4c14-b625-910f36daf247	a3cec60f-0430-4c8a-b14c-1fec64f3e1ac	g.chr11:77930359C>T	ENST00000361507.4	-	10	2075	c.1990G>A	c.(1990-1992)Gtg>Atg	p.V664M	GAB2_ENST00000340149.2_Missense_Mutation_p.V626M	NM_080491.2	NP_536739.1	Q9UQC2	GAB2_HUMAN	GRB2-associated binding protein 2	664					cell migration (GO:0016477)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|osteoclast differentiation (GO:0030316)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell proliferation (GO:0008284)|positive regulation of mast cell degranulation (GO:0043306)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)		INTS4/GAB2(2)	NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(8)|ovary(5)|skin(1)|upper_aerodigestive_tract(1)	24	all_cancers(14;3.31e-18)|all_epithelial(13;5.3e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.58e-23)			GACTGCCGCACGTCTGTCCAC	0.592																																						ENST00000361507.4																		INTS4/GAB2(2)	0				NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(8)|ovary(5)|skin(1)|upper_aerodigestive_tract(1)	24						c.(1990-1992)Gtg>Atg		GRB2-associated binding protein 2							125	101	109					11																	77930359		2200	4292	6492	SO:0001583	missense	9846				osteoclast differentiation|phosphatidylinositol-mediated signaling|positive regulation of cell proliferation|positive regulation of mast cell degranulation	cytosol|plasma membrane	phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|transmembrane receptor protein tyrosine kinase adaptor activity	g.chr11:77930359C>T	AB011143	CCDS8259.1, CCDS8260.1	11q13.4-q13.5	2013-01-10			ENSG00000033327	ENSG00000033327		"Pleckstrin homology (PH) domain containing"	14458	protein-coding gene	gene with protein product	"Grb2-associated binder 2"	606203				10391903, 10068651	Standard	NM_080491		Approved	KIAA0571	uc001ozh.3	Q9UQC2	OTTHUMG00000166673	ENST00000361507.4:c.1990G>A	11.37:g.77930359C>T	ENSP00000354952:p.Val664Met					GAB2_ENST00000340149.2_Missense_Mutation_p.V626M	p.V664M	NM_080491.2	NP_536739.1	Q9UQC2	GAB2_HUMAN	OV - Ovarian serous cystadenocarcinoma(8;1.58e-23)		10	2075	-	all_cancers(14;3.31e-18)|all_epithelial(13;5.3e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		664					A2RRM2|A6NEW9|A7MD36|O60317	Missense_Mutation	SNP	ENST00000361507.4	37	c.1990G>A	CCDS8259.1	.	.	.	.	.	.	.	.	.	.	C	27.5	4.835728	0.91117	.	.	ENSG00000033327	ENST00000340149;ENST00000361507	T;T	0.21734	1.99;1.99	5.38	5.38	0.77491	.	0.000000	0.64402	U	0.000002	T	0.48786	0.1519	M	0.69823	2.125	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.43829	-0.9367	10	0.56958	D	0.05	-13.3822	19.5013	0.95095	0.0:1.0:0.0:0.0	.	664	Q9UQC2	GAB2_HUMAN	M	626;664	ENSP00000343959:V626M;ENSP00000354952:V664M	ENSP00000343959:V626M	V	-	1	0	GAB2	77608007	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.776000	0.85560	2.677000	0.91161	0.563000	0.77884	GTG		0.592	GAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391085.1	NM_080491		39	37	0	0	0	1	0	39	37					T	77930359	C	T	77930359	3	4	114	1	0	0	0	0	1	0	0	0	6149	536	19	1	44	1	GAB2	11	77930359	Missense_Mutation	SNP	C	TCGA-EJ-A46F-01A-31D-A257-08	12384971	77930359	57076157	25	6098											
CCDC84	338657	broad.mit.edu	37	chr11	118868962	118868962	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agaccttcttctgtggtcgcGggcacgtttacagccgcaag	7	10	12	12	4	2	1	0	0	2	1	3	1	2	1	2	2	2	3	2	2	2	4			TCGA-EJ-A46F-01A-31D-A257-08	TCGA-EJ-A46F-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc6d5463-8229-4c14-b625-910f36daf247	a3cec60f-0430-4c8a-b14c-1fec64f3e1ac	g.chr11:118868962G>C	ENST00000334418.1	+	1	111	c.55G>C	c.(55-57)Ggg>Cgg	p.G19R	RP11-110I1.12_ENST00000526453.1_lincRNA	NM_198489.1	NP_940891.1	Q86UT8	CCD84_HUMAN	coiled-coil domain containing 84	19										breast(1)|kidney(1)|large_intestine(1)|liver(1)|ovary(1)	5	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_neural(223;0.224)|all_hematologic(192;0.243)		BRCA - Breast invasive adenocarcinoma(274;7.72e-05)		CTGTGGTCGCGGGCACGTTTA	0.672																																						ENST00000334418.1																			0				breast(1)|kidney(1)|large_intestine(1)|liver(1)|ovary(1)	5						c.(55-57)Ggg>Cgg		coiled-coil domain containing 84							13	15	14					11																	118868962		2189	4288	6477	SO:0001583	missense	338657							g.chr11:118868962G>C	AB094093	CCDS8405.1	11q23.3	2006-03-13			ENSG00000186166	ENSG00000186166			30460	protein-coding gene	gene with protein product							Standard	NM_198489		Approved	DLNB14	uc001pul.3	Q86UT8	OTTHUMG00000166348	ENST00000334418.1:c.55G>C	11.37:g.118868962G>C	ENSP00000334767:p.Gly19Arg						p.G19R	NM_198489.1	NP_940891.1	Q86UT8	CCD84_HUMAN		BRCA - Breast invasive adenocarcinoma(274;7.72e-05)	1	111	+	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_neural(223;0.224)|all_hematologic(192;0.243)	19						Missense_Mutation	SNP	ENST00000334418.1	37	c.55G>C	CCDS8405.1	.	.	.	.	.	.	.	.	.	.	G	24.4	4.532204	0.85812	.	.	ENSG00000186166	ENST00000334418	T	0.38560	1.13	5.12	5.12	0.69794	.	0.294875	0.38381	N	0.001706	T	0.39708	0.1088	N	0.16790	0.44	0.42529	D	0.993034	D	0.69078	0.997	D	0.69307	0.963	T	0.16689	-1.0394	10	0.08381	T	0.77	-17.057	9.5345	0.39213	0.0928:0.0:0.9072:0.0	.	19	Q86UT8	CCD84_HUMAN	R	19	ENSP00000334767:G19R	ENSP00000334767:G19R	G	+	1	0	CCDC84	118374172	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.196000	0.42686	2.672000	0.90937	0.650000	0.86243	GGG		0.672	CCDC84-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389315.1	NM_198489		4	4	0	0	0	1	0	4	4					C	118868962	G	C	118868962	3	2	114	1	0	0	0	0	1	0	0	0	2858	1116	39	5	57	5	CCDC84	11	118868962	Missense_Mutation	SNP	G	TCGA-EJ-A46F-01A-31D-A257-08	40938603	118868962	16137554	26	6099											
ITPR2	3709	broad.mit.edu	37	chr12	26580952	26580952	+	Frame_Shift_Del	DEL	A	A	-																															tacccacaggcttggagaagAaaaacagcatagatgtgcag																										TCGA-EJ-A46F-01A-31D-A257-08	TCGA-EJ-A46F-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc6d5463-8229-4c14-b625-910f36daf247	a3cec60f-0430-4c8a-b14c-1fec64f3e1ac	g.chr12:26580952delA	ENST00000381340.3	-	49	7255	c.6839delT	c.(6838-6840)ttcfs	p.F2281fs		NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	2281					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|cellular response to cAMP (GO:0071320)|cellular response to ethanol (GO:0071361)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|regulation of insulin secretion (GO:0050796)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	cell cortex (GO:0005938)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|receptor complex (GO:0043235)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion transmembrane transporter activity (GO:0015085)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|phosphatidylinositol binding (GO:0035091)		ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)				Caffeine(DB00201)	CTTGGAGAAGAAAAACAGCAT	0.393																																						ENST00000381340.3																		ETV6/ITPR2(2)	0				biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125						c.(6838-6840)tcfs		inositol 1,4,5-trisphosphate receptor, type 2							95	86	89					12																	26580952		1847	4100	5947	SO:0001589	frameshift_variant	3709				activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity	g.chr12:26580952delA	D26350	CCDS41764.1	12p11.23	2014-07-18	2011-04-28		ENSG00000123104	ENSG00000123104		"Ion channels / Inositol triphosphate receptors"	6181	protein-coding gene	gene with protein product	"cilia and flagella associated protein 48"	600144	"inositol 1,4,5-triphosphate receptor, type 2"			8081734	Standard	XM_006719064		Approved	IP3R2, CFAP48	uc001rhg.3	Q14571	OTTHUMG00000169181	ENST00000381340.3:c.6839delT	12.37:g.26580952delA	ENSP00000370744:p.Phe2281fs						p.F2281fs	NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN			49	7255	-	Colorectal(261;0.0847)		2281					O94773	Frame_Shift_Del	DEL	ENST00000381340.3	37	c.6839delT	CCDS41764.1																																																																																				0.393	ITPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402732.1	NM_002223		17	27						17	27	---	---	---	---	-	26580952	A	-	26580952	7	5	114	1	0	1	0	1	0	0	0	0	7921	246	9	0	1302	0	ITPR2	12	26580952	Frame_Shift_Del	DEL	A	TCGA-EJ-A46F-01A-31D-A257-08		26580952	107270943	27	6100											
TMEM132B	114795	broad.mit.edu	37	chr12	125834175	125834175	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggagccattcttcatctaccGagccaggacaccccctatta	10	9	7	15	1	3	0	1	0	2	0	3	3	3	2	5	2	3	0	5	2	3	5			TCGA-EJ-A46F-01A-31D-A257-08	TCGA-EJ-A46F-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc6d5463-8229-4c14-b625-910f36daf247	a3cec60f-0430-4c8a-b14c-1fec64f3e1ac	g.chr12:125834175G>A	ENST00000299308.3	+	2	238	c.230G>A	c.(229-231)cGa>cAa	p.R77Q	TMEM132B_ENST00000418253.2_3'UTR	NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN	transmembrane protein 132B	77						integral component of membrane (GO:0016021)		p.R77Q(1)		NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		TTCATCTACCGAGCCAGGACA	0.507																																						ENST00000299308.3																			1	Substitution - Missense(1)	p.R77Q(1)	skin(1)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107						c.(229-231)cGa>cAa		transmembrane protein 132B							103	105	105					12																	125834175		1878	4119	5997	SO:0001583	missense	114795					integral to membrane		g.chr12:125834175G>A	AB067493	CCDS41859.1, CCDS66501.1	12q24.31	2006-03-02							29397	protein-coding gene	gene with protein product						11572484	Standard	NM_001286219		Approved	KIAA1906, KIAA1786	uc001uhe.1	Q14DG7		ENST00000299308.3:c.230G>A	12.37:g.125834175G>A	ENSP00000299308:p.Arg77Gln					TMEM132B_ENST00000418253.2_3'UTR	p.R77Q	NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)	2	238	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		77					A2RRG8|Q8NA73|Q96JN9|Q96PY1	Missense_Mutation	SNP	ENST00000299308.3	37	c.230G>A	CCDS41859.1	.	.	.	.	.	.	.	.	.	.	G	3.987	-0.005289	0.07773	.	.	ENSG00000139364	ENST00000299308	T	0.11063	2.81	5.41	4.51	0.55191	.	.	.	.	.	T	0.03871	0.0109	N	0.12746	0.255	0.80722	D	1	B	0.33494	0.414	B	0.18263	0.021	T	0.30149	-0.9988	9	0.05721	T	0.95	.	7.8894	0.29669	0.2267:0.0:0.7733:0.0	.	77	Q14DG7	T132B_HUMAN	Q	77	ENSP00000299308:R77Q	ENSP00000299308:R77Q	R	+	2	0	TMEM132B	124400128	1.000000	0.71417	0.963000	0.40424	0.472000	0.32918	3.430000	0.52807	2.514000	0.84764	0.591000	0.81541	CGA		0.507	TMEM132B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000400043.1	NM_052907		23	136	0	0	0	1	0	23	136					A	125834175	G	A	125834175	3	1	114	1	0	0	0	0	1	0	0	0	16043	1058	37	2	236	2	TMEM132B	12	125834175	Missense_Mutation	SNP	G	TCGA-EJ-A46F-01A-31D-A257-08	99253223	125834175	8017720	28	6101											
SACS	26278	broad.mit.edu	37	chr13	23912525	23912525	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctctcactcagggaaaacttCagagcctctcctgtgtccat	9	11	7	14	0	4	1	3	0	2	1	7	2	5	2	3	1	2	0	3	1	2	1			TCGA-EJ-A46F-01A-31D-A257-08	TCGA-EJ-A46F-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc6d5463-8229-4c14-b625-910f36daf247	a3cec60f-0430-4c8a-b14c-1fec64f3e1ac	g.chr13:23912525C>T	ENST00000382292.3	-	9	5763	c.5490G>A	c.(5488-5490)ctG>ctA	p.L1830L	SACS_ENST00000382298.3_Silent_p.L1830L|SACS_ENST00000402364.1_Silent_p.L1080L			Q9NZJ4	SACS_HUMAN	sacsin molecular chaperone	1830					cell death (GO:0008219)|negative regulation of inclusion body assembly (GO:0090084)|protein folding (GO:0006457)	axon (GO:0030424)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chaperone binding (GO:0051087)|Hsp70 protein binding (GO:0030544)|proteasome binding (GO:0070628)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		GGGAAAACTTCAGAGCCTCTC	0.488																																						ENST00000382298.3																			0				NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189						c.(5488-5490)ctG>ctA		spastic ataxia of Charlevoix-Saguenay (sacsin)							132	129	130					13																	23912525		2203	4299	6502	SO:0001819	synonymous_variant	26278				cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding	g.chr13:23912525C>T	AF193556	CCDS9300.2	13q11	2014-06-13	2014-01-30		ENSG00000151835	ENSG00000151835		"Heat shock proteins / DNAJ (HSP40)"	10519	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 138"	604490	"spastic ataxia of Charlevoix-Saguenay (sacsin)"			10610707, 15057823, 21726565	Standard	NM_001278055		Approved	ARSACS, KIAA0730, DKFZp686B15167, DNAJC29, SPAX6, PPP1R138	uc001uon.3	Q9NZJ4	OTTHUMG00000016562	ENST00000382292.3:c.5490G>A	13.37:g.23912525C>T						SACS_ENST00000402364.1_Silent_p.L1080L|SACS_ENST00000382292.3_Silent_p.L1830L	p.L1830L	NM_014363.4	NP_055178.3	Q9NZJ4	SACS_HUMAN		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)	10	6078	-		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)	1830					O94835|Q5T9J5|Q5T9J7|Q5T9J8|Q68DF5|Q6MZR4|Q8NBF9	Silent	SNP	ENST00000382292.3	37	c.5490G>A	CCDS9300.2																																																																																				0.488	SACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044148.3	NM_014363		60	76	0	0	0	1	0	60	76					T	23912525	C	T	23912525	2	4	114	1	0	0	0	0	0	0	0	1	13804	813	29	3		3	SACS	13	23912525	Silent	SNP	C	TCGA-EJ-A46F-01A-31D-A257-08		23912525	91257353	29	6102											
LRFN5	145581	broad.mit.edu	37	chr14	42356737	42356737	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	agagtcctggagggacaaagGgcaacactgaggtgcaaagc	14	4	15	8	0	0	2	0	1	0	1	1	4	1	4	1	4	3	2	1	4	3	0			TCGA-EJ-A46F-01A-31D-A257-08	TCGA-EJ-A46F-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc6d5463-8229-4c14-b625-910f36daf247	a3cec60f-0430-4c8a-b14c-1fec64f3e1ac	g.chr14:42356737G>A	ENST00000298119.4	+	3	2098	c.909G>A	c.(907-909)agG>agA	p.R303R	LRFN5_ENST00000554120.1_Silent_p.R303R|LRFN5_ENST00000554171.1_Silent_p.R303R	NM_152447.3	NP_689660.2	Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III domain containing 5	303	Ig-like.					integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		AGGGACAAAGGGCAACACTGA	0.483										HNSCC(30;0.082)																												ENST00000554171.1																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120						c.(907-909)agG>agA		leucine rich repeat and fibronectin type III domain containing 5							114	109	111					14																	42356737		2203	4300	6503	SO:0001819	synonymous_variant	145581					integral to membrane		g.chr14:42356737G>A	AK055365	CCDS9678.1	14q21.1	2013-02-11	2004-02-02	2004-02-04	ENSG00000165379	ENSG00000165379		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	20360	protein-coding gene	gene with protein product	"fibronectin type III, immunoglobulin and leucine rich repeat domains 8"	612811	"chromosome 14 open reading frame 146"	C14orf146		16828986	Standard	NM_152447		Approved	FIGLER8, SALM5	uc001wvm.3	Q96NI6	OTTHUMG00000140261	ENST00000298119.4:c.909G>A	14.37:g.42356737G>A		HNSCC(30;0.082)				LRFN5_ENST00000554120.1_Silent_p.R303R|LRFN5_ENST00000298119.4_Silent_p.R303R	p.R303R			Q96NI6	LRFN5_HUMAN	LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)	5	3341	+			303			Ig-like.		B3KU78|Q86XL2	Silent	SNP	ENST00000298119.4	37	c.909G>A	CCDS9678.1																																																																																				0.483	LRFN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276786.1	NM_152447		42	44	0	0	0	1	0	42	44					A	42356737	G	A	42356737	2	1	114	1	0	0	0	0	0	0	0	1	8941	1223	43	3		3	LRFN5	14	42356737	Silent	SNP	G	TCGA-EJ-A46F-01A-31D-A257-08		42356737	64992803	30	6103											
VIPAR	63894	broad.mit.edu	37	chr14	77908979	77908979	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atgtctcagggcaacctgtcGcacctccagctctcggaaga	9	8	10	14	2	2	1	1	0	2	1	6	2	3	2	3	2	2	3	3	2	2	0	rs200370925		TCGA-EJ-A46F-01A-31D-A257-08	TCGA-EJ-A46F-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc6d5463-8229-4c14-b625-910f36daf247	a3cec60f-0430-4c8a-b14c-1fec64f3e1ac	g.chr14:77908979G>A	ENST00000553888.1	-	10	1168	c.658C>T	c.(658-660)Cga>Tga	p.R220*	VIPAS39_ENST00000343765.2_Nonsense_Mutation_p.R220*|VIPAS39_ENST00000448935.2_Nonsense_Mutation_p.R171*|VIPAS39_ENST00000556412.1_Nonsense_Mutation_p.R246*|VIPAS39_ENST00000327028.4_Nonsense_Mutation_p.R207*|VIPAS39_ENST00000557658.1_Nonsense_Mutation_p.R220*	NM_001193314.1|NM_001193317.1|NM_022067.3	NP_001180243.1|NP_001180246.1|NP_071350.2	Q9H9C1	SPE39_HUMAN	VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog	220					cell differentiation (GO:0030154)|endosome to lysosome transport (GO:0008333)|intracellular protein transport (GO:0006886)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|late endosome (GO:0005770)|recycling endosome (GO:0055037)											GCAACCTGTCGCACCTCCAGC	0.433																																						ENST00000553888.1																			0											c.(658-660)Cga>Tga		VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog							130	134	133					14																	77908979		2203	4300	6503	SO:0001587	stop_gained	63894							g.chr14:77908979G>A	AK022925	CCDS9862.1, CCDS53905.1	14q24.3-q31	2013-08-14	2012-07-24	2012-07-24	ENSG00000151445	ENSG00000151445			20347	protein-coding gene	gene with protein product	"VPS33B interacting protein, apical-basolateral polarity regulator"	613401	"chromosome 14 open reading frame 133"	C14orf133		20190753, 19109425, 22753090, 23002115, 23918659	Standard	NM_022067		Approved	VIPAR, VPS16B, SPE-39, SPE39, hSPE-39	uc001xtu.2	Q9H9C1		ENST00000553888.1:c.658C>T	14.37:g.77908979G>A	ENSP00000452181:p.Arg220*					VIPAS39_ENST00000448935.2_Nonsense_Mutation_p.R171*|VIPAS39_ENST00000343765.2_Nonsense_Mutation_p.R220*|VIPAS39_ENST00000557658.1_Nonsense_Mutation_p.R220*|VIPAS39_ENST00000327028.4_Nonsense_Mutation_p.R207*|VIPAS39_ENST00000556412.1_Nonsense_Mutation_p.R246*	p.R220*	NM_001193314.1|NM_001193317.1|NM_022067.3	NP_001180243.1|NP_001180246.1|NP_071350.2					10	1168	-								B4DPI6|O95434|Q9H7E1|Q9H9I9	Nonsense_Mutation	SNP	ENST00000553888.1	37	c.658C>T	CCDS9862.1	.	.	.	.	.	.	.	.	.	.	G	33	5.251579	0.95305	.	.	ENSG00000151445	ENST00000343765;ENST00000553888;ENST00000327028;ENST00000557658;ENST00000448935;ENST00000556412	.	.	.	4.7	3.77	0.43336	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-4.8044	13.7681	0.63008	0.0:0.0:0.8457:0.1543	.	.	.	.	X	220;220;207;220;171;246	.	ENSP00000313098:R207X	R	-	1	2	VIPAR	76978732	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.292000	0.65673	2.146000	0.66826	0.655000	0.94253	CGA		0.433	VIPAS39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414008.1	NM_022067		65	77	0	0	0	1	0	65	77					A	77908979	G	A	77908979	4	1	114	1	0	0	0	0	0	1	0	0	17165	1095	38	1	867	1	VIPAR	14	77908979	Nonsense_Mutation	SNP	G	TCGA-EJ-A46F-01A-31D-A257-08	35552242	77908979	29440561	31	6104											
IL27	55911	broad.mit.edu	37	chr16	28511176	28511178	+	IGR	DEL	CTC	CTC	-																															cctgggagcagccccttcctCtcctcctcctcctcctcctc																										TCGA-EJ-A46F-01A-31D-A257-08	TCGA-EJ-A46F-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc6d5463-8229-4c14-b625-910f36daf247	a3cec60f-0430-4c8a-b14c-1fec64f3e1ac	g.chr16:28511176_28511178delCTC	ENST00000431282.1	+	0	3414				IL27_ENST00000356897.1_In_Frame_Del_p.E176del			Q0VD83	APOBR_HUMAN	apolipoprotein B receptor						cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)|triglyceride metabolic process (GO:0006641)	chylomicron (GO:0042627)|low-density lipoprotein particle (GO:0034362)|membrane (GO:0016020)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	very-low-density lipoprotein particle receptor activity (GO:0030229)			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|skin(2)|stomach(1)	29						GCCCCTtcctctcctcctcctcc	0.685																																						ENST00000356897.1																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)	10						c.(526-528)del		interleukin 27																																				SO:0001628	intergenic_variant	246778				inflammatory response|innate immune response|positive regulation of interferon-gamma biosynthetic process|regulation of defense response to virus|regulation of T cell proliferation|regulation of T-helper 1 cell differentiation	extracellular space	cytokine activity|interleukin-27 receptor binding	g.chr16:28511176_28511178delCTC	AK025123	CCDS58442.1	16p11.2	2011-02-14			ENSG00000184730	ENSG00000184730			24087	protein-coding gene	gene with protein product	"apolipoprotein B48 receptor", "apolipoprotein B100 receptor"	605220				10852956	Standard	NM_018690		Approved	APOB48R, APOB100R	uc002dqb.2	Q0VD83			16.37:g.28511185_28511187delCTC							p.E176del	NM_145659.3	NP_663634.2	Q8NEV9	IL27A_HUMAN			5	548_550	-			176			Glu-rich.		H3BU97|Q0VD81|Q8NC15|Q9NPJ9	In_Frame_Del	DEL	ENST00000431282.1	37	c.526_528delGAG																																																																																					0.685	APOBR-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_182804		3	3						3	3	---	---	---	---	-	28511178	CTC	-	28511176	6	5	114	0	1	1	0	1	0	0	0	0	7680	912	32	0		0	IL27	16	28511176	IGR	DEL	CTC	TCGA-EJ-A46F-01A-31D-A257-08		28511176	61843577	32	6105											
EIF4A1	1973	broad.mit.edu	37	chr17	7480916	7480916	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctggacacactatgtgacttGtatgaaaccctgaccatcac	12	10	7	12	0	1	3	1	3	0	0	1	4	1	4	2	1	1	1	2	1	3	3			TCGA-EJ-A46F-01A-31D-A257-08	TCGA-EJ-A46F-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc6d5463-8229-4c14-b625-910f36daf247	a3cec60f-0430-4c8a-b14c-1fec64f3e1ac	g.chr17:7480916G>C	ENST00000293831.8	+	8	814	c.798G>C	c.(796-798)ttG>ttC	p.L266F	SNORA48_ENST00000386847.1_RNA|SENP3-EIF4A1_ENST00000579777.1_RNA|EIF4A1_ENST00000582746.1_Missense_Mutation_p.L266F|CD68_ENST00000250092.6_5'Flank|SNORD10_ENST00000459579.1_RNA|EIF4A1_ENST00000577269.1_Missense_Mutation_p.L266F|CD68_ENST00000380498.6_5'Flank|SNORA67_ENST00000384423.1_RNA	NM_001416.3	NP_001407.1	P60842	IF4A1_HUMAN	eukaryotic translation initiation factor 4A1	266	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				cellular protein metabolic process (GO:0044267)|cytokine-mediated signaling pathway (GO:0019221)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|organ regeneration (GO:0031100)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational initiation (GO:0006413)|viral process (GO:0016032)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|RNA cap binding (GO:0000339)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			NS(1)|breast(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	22						TATGTGACTTGTATGAAACCC	0.532																																					Melanoma(120;278 1668 15796 27423 46368)	ENST00000293831.8																			0				NS(1)|breast(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	22						c.(796-798)ttG>ttC		eukaryotic translation initiation factor 4A1							103	92	96					17																	7480916		2203	4300	6503	SO:0001583	missense	1973				nuclear-transcribed mRNA poly(A) tail shortening	cytosol|eukaryotic translation initiation factor 4F complex	ATP binding|ATP-dependent helicase activity|mRNA binding|protein binding|RNA cap binding|translation initiation factor activity	g.chr17:7480916G>C	D13748	CCDS11113.1, CCDS58511.1	17p13	2012-02-23	2010-02-10		ENSG00000161960	ENSG00000161960		"DEAD-boxes"	3282	protein-coding gene	gene with protein product		602641	"eukaryotic translation initiation factor 4A, isoform 1"	EIF4A		8493113, 9790779	Standard	NM_001416		Approved	DDX2A, EIF-4A		P60842	OTTHUMG00000108149	ENST00000293831.8:c.798G>C	17.37:g.7480916G>C	ENSP00000293831:p.Leu266Phe					EIF4A1_ENST00000577269.1_Missense_Mutation_p.L266F|EIF4A1_ENST00000582746.1_Missense_Mutation_p.L266F|SENP3-EIF4A1_ENST00000579777.1_RNA	p.L266F	NM_001416.3	NP_001407.1	P60842	IF4A1_HUMAN			8	814	+			266			Helicase C-terminal.		B2R6L8|D3DTP9|J3QLC4|P04765|Q5U018|Q61516	Missense_Mutation	SNP	ENST00000293831.8	37	c.798G>C	CCDS11113.1	.	.	.	.	.	.	.	.	.	.	G	11.95	1.792792	0.31685	.	.	ENSG00000161960	ENST00000293831;ENST00000396527	T	0.06142	3.34	5.35	-0.459	0.12179	Helicase, C-terminal (1);	0.065887	0.64402	N	0.000012	T	0.16257	0.0391	M	0.72479	2.2	0.80722	D	1	D;D;D	0.89917	0.997;0.995;1.0	D;D;D	0.73708	0.958;0.958;0.981	T	0.01298	-1.1392	10	0.87932	D	0	-19.8081	4.7976	0.13279	0.3425:0.0:0.5197:0.1378	.	266;266;266	A8K7F6;A8K088;P60842	.;.;IF4A1_HUMAN	F	266;89	ENSP00000293831:L266F	ENSP00000293831:L266F	L	+	3	2	EIF4A1	7421640	1.000000	0.71417	0.991000	0.47740	0.990000	0.78478	1.257000	0.32932	-0.296000	0.08947	0.561000	0.74099	TTG		0.532	EIF4A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226952.6	NM_001416		59	11	0	0	0	1	0	59	11					C	7480916	G	C	7480916	3	2	114	1	0	0	0	0	1	0	0	0	5024	1368	48	5	828	5	EIF4A1	17	7480916	Missense_Mutation	SNP	G	TCGA-EJ-A46F-01A-31D-A257-08		7480916	73714294	33	6106											
FAM18B2	201158	broad.mit.edu	37	chr17	15406266	15406266	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccccacctcccctccaggccCaaagccgcaaggagagaaat	12	3	8	18	1	0	1	0	0	0	1	2	3	2	2	8	2	1	1	8	2	3	0			TCGA-EJ-A46F-01A-31D-A257-08	TCGA-EJ-A46F-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc6d5463-8229-4c14-b625-910f36daf247	a3cec60f-0430-4c8a-b14c-1fec64f3e1ac	g.chr17:15406266C>A	ENST00000225576.3	-	6	838	c.743G>T	c.(742-744)tGg>tTg	p.W248L	TVP23C-CDRT4_ENST00000522212.2_Intron|TVP23C_ENST00000519970.1_Intron	NM_145301.2	NP_660344.2	Q96ET8	TV23C_HUMAN	trans-golgi network vesicle protein 23 homolog C (S. cerevisiae)	248						integral component of membrane (GO:0016021)											CCTCCAGGCCCAAAGCCGCAA	0.587																																						ENST00000225576.3																			0											c.(742-744)tGg>tTg		trans-golgi network vesicle protein 23 homolog C (S. cerevisiae)							25	30	28					17																	15406266		2203	4300	6503	SO:0001583	missense	201158							g.chr17:15406266C>A	BC011952	CCDS11170.1, CCDS45617.1	17p12	2012-11-29	2012-11-29	2012-11-29	ENSG00000175106	ENSG00000175106			30453	protein-coding gene	gene with protein product			"family with sequence similarity 18, member B2"	FAM18B2			Standard	NM_001135036		Approved	MGC8763	uc002goq.2	Q96ET8	OTTHUMG00000171461	ENST00000225576.3:c.743G>T	17.37:g.15406266C>A	ENSP00000225576:p.Trp248Leu					TVP23C-CDRT4_ENST00000522212.2_Intron|TVP23C_ENST00000519970.1_Intron	p.W248L	NM_145301.2	NP_660344.2					6	838	-								Q3LIC7	Missense_Mutation	SNP	ENST00000225576.3	37	c.743G>T	CCDS11170.1	.	.	.	.	.	.	.	.	.	.	C	9.335	1.061429	0.19987	.	.	ENSG00000175106	ENST00000225576	T	0.26518	1.73	3.17	-5.9	0.02275	.	.	.	.	.	T	0.13200	0.0320	N	0.22421	0.69	0.09310	N	0.999999	B	0.02656	0.0	B	0.01281	0.0	T	0.27706	-1.0066	9	0.87932	D	0	.	4.5691	0.12202	0.4042:0.3089:0.0:0.2869	.	248	Q96ET8	F18B2_HUMAN	L	248	ENSP00000225576:W248L	ENSP00000225576:W248L	W	-	2	0	FAM18B2	15346991	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-1.000000	0.03693	-1.933000	0.01052	-2.160000	0.00327	TGG		0.587	TVP23C-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000130705.2	NM_145301		19	8	1	0	4.96729e-08	1	5.04872e-08	19	8					A	15406266	C	A	15406266	3	1	114	1	0	0	0	0	1	0	0	0	5520	595	21	5	91	5	FAM18B2	17	15406266	Missense_Mutation	SNP	C	TCGA-EJ-A46F-01A-31D-A257-08	7925350	15406266	65788944	34	6107											
DLX4	1748	broad.mit.edu	37	chr17	48050406	48050406	+	Intron	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taccccctcgctccctcctcGccccctacaccgtgttgtgc	3	10	6	22	3	0	0	0	0	0	0	4	0	2	0	7	0	3	2	7	0	2	3			TCGA-EJ-A46F-01A-31D-A257-08	TCGA-EJ-A46F-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc6d5463-8229-4c14-b625-910f36daf247	a3cec60f-0430-4c8a-b14c-1fec64f3e1ac	g.chr17:48050406G>A	ENST00000240306.3	+	2	578				DLX4_ENST00000411890.2_Missense_Mutation_p.A13T|DLX4_ENST00000503410.1_Intron	NM_138281.2	NP_612138.1	Q92988	DLX4_HUMAN	distal-less homeobox 4						multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(3)	10						CTCCCTCCTCGCCCCCTACAC	0.632																																						ENST00000411890.2																			0				central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(3)	10						c.(37-39)Gcc>Acc		distal-less homeobox 4							51	60	57					17																	48050406		2203	4300	6503	SO:0001627	intron_variant	0				multicellular organismal development	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr17:48050406G>A		CCDS11555.1, CCDS45728.1	17q21.33	2011-06-20			ENSG00000108813	ENSG00000108813		"Homeoboxes / ANTP class : NKL subclass"	2917	protein-coding gene	gene with protein product		601911		DLX7, DLX9			Standard	NM_138281		Approved	DLX8, BP1	uc002ipv.3	Q92988	OTTHUMG00000161839	ENST00000240306.3:c.284-31G>A	17.37:g.48050406G>A						DLX4_ENST00000503410.1_Intron|DLX4_ENST00000240306.3_Intron	p.A13T	NM_001934.3	NP_001925.2	Q92988	DLX4_HUMAN			1	277	+			80	MTSLPCPLPGRDASKAVFPDLAPVPSVAAAYPLGLSPTTAA SPNLSYSRPYGHLLSYPYTEPANPGDSYLSCQQPAALSQPL CGPAEHPQELEA -> GGSLSLPPEPLCARCPTKEGAAPRR PGFWGSLETQAATVWRGRHGHFSCRVRLSRGAARYSRRGQG KPGVTISAARLVFKVLSAGPLTHPAGRSRRLPRGHRLKPLS IALSLCLQCPSSVISRPRLSPGPSLSAPPYPKLAPPPVAEL RPPTAGAAVPWLWPSARFLPRVTGPIRVGAPLGAELRLVSP GAVNVGVETLHAE (in Ref. 9).				D3DTX2|D3DTX3|O60480|Q13265|Q6PJK0|Q9HBE0	Missense_Mutation	SNP	ENST00000240306.3	37	c.37G>A	CCDS11555.1	.	.	.	.	.	.	.	.	.	.	G	11.73	1.726506	0.30593	.	.	ENSG00000108813	ENST00000411890	D	0.92249	-3.0	2.0	-1.32	0.09201	.	.	.	.	.	D	0.83473	0.5262	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.68066	-0.5507	8	0.37606	T	0.19	.	4.402	0.11392	0.2514:0.5123:0.2363:0.0	.	13	Q92988-2	.	T	13	ENSP00000410622:A13T	ENSP00000410622:A13T	A	+	1	0	DLX4	45405405	0.000000	0.05858	0.001000	0.08648	0.021000	0.10359	-0.795000	0.04580	-0.494000	0.06669	-1.058000	0.02302	GCC		0.632	DLX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366214.1			39	34	0	0	0	1	0	39	34					A	48050406	G	A	48050406	1	1	114	0	1	0	0	0	0	0	0	0	4573	1087	38	1		1	DLX4	17	48050406	Intron	SNP	G	TCGA-EJ-A46F-01A-31D-A257-08	32644140	48050406	33144804	35	6108											
BTBD2	55643	broad.mit.edu	37	chr19	1986928	1986928	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgagccgtcgcagctgaaGcccgtgtcgttctggcccaa	6	8	13	14	4	1	2	0	2	1	0	3	2	1	2	3	1	3	4	3	1	2	1			TCGA-EJ-A46F-01A-31D-A257-08	TCGA-EJ-A46F-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc6d5463-8229-4c14-b625-910f36daf247	a3cec60f-0430-4c8a-b14c-1fec64f3e1ac	g.chr19:1986928G>A	ENST00000255608.4	-	8	1333	c.1317C>T	c.(1315-1317)ggC>ggT	p.G439G	AC005306.3_ENST00000588480.1_RNA|AC005306.3_ENST00000587498.1_RNA	NM_017797.3	NP_060267.2	Q9BX70	BTBD2_HUMAN	BTB (POZ) domain containing 2	439						cytoplasmic mRNA processing body (GO:0000932)				endometrium(5)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|stomach(1)	12		Ovarian(11;2.11e-07)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CGCAGCTGAAGCCCGTGTCGT	0.637																																						ENST00000255608.4																			0				endometrium(5)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|stomach(1)	12						c.(1315-1317)ggC>ggT		BTB (POZ) domain containing 2							75	81	79					19																	1986928		2203	4300	6503	SO:0001819	synonymous_variant	55643					cytoplasmic mRNA processing body	protein binding	g.chr19:1986928G>A	AF355797	CCDS12078.1	19p13.3	2013-10-02			ENSG00000133243	ENSG00000133243		"BTB/POZ domain containing"	15504	protein-coding gene	gene with protein product		608531				11179693	Standard	XM_005259593		Approved		uc002lup.1	Q9BX70	OTTHUMG00000180017	ENST00000255608.4:c.1317C>T	19.37:g.1986928G>A							p.G439G	NM_017797.3	NP_060267.2	Q9BX70	BTBD2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	8	1333	-		Ovarian(11;2.11e-07)|Hepatocellular(1079;0.137)	439					O60418|O75248|Q4VBZ1|Q6IAC5|Q7Z5W0|Q96SX8|Q9NPS1|Q9NX81	Silent	SNP	ENST00000255608.4	37	c.1317C>T	CCDS12078.1																																																																																				0.637	BTBD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449300.2			45	10	0	0	0	1	0	45	10					A	1986928	G	A	1986928	2	1	114	1	0	0	0	0	0	0	0	1	1543	958	34	3		3	BTBD2	19	1986928	Silent	SNP	G	TCGA-EJ-A46F-01A-31D-A257-08		1986928	57142055	36	6109											
MUC16	94025	broad.mit.edu	37	chr19	9058119	9058119	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atgaactggttttaggctctGagcttgtatccaacacttct	9	15	8	9	0	2	2	0	2	2	0	3	2	3	2	1	2	3	4	1	2	4	5			TCGA-EJ-A46F-01A-31D-A257-08	TCGA-EJ-A46F-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc6d5463-8229-4c14-b625-910f36daf247	a3cec60f-0430-4c8a-b14c-1fec64f3e1ac	g.chr19:9058119G>C	ENST00000397910.4	-	3	29530	c.29327C>G	c.(29326-29328)tCa>tGa	p.S9776*		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	9778	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TTTAGGCTCTGAGCTTGTATC	0.468																																						ENST00000397910.4																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(29326-29328)tCa>tGa		mucin 16, cell surface associated							64	61	62					19																	9058119		1909	4128	6037	SO:0001587	stop_gained	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9058119G>C	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.29327C>G	19.37:g.9058119G>C	ENSP00000381008:p.Ser9776*						p.S9776*	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			3	29530	-			9778			Ser-rich.|Thr-rich.		Q6ZQW5|Q96RK2	Nonsense_Mutation	SNP	ENST00000397910.4	37	c.29327C>G	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	g	60	45.211857	0.99986	.	.	ENSG00000181143	ENST00000397910	.	.	.	2.72	-1.33	0.09172	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	6.0271	0.19660	0.4807:0.0:0.5193:0.0	.	.	.	.	X	9776	.	ENSP00000381008:S9776X	S	-	2	0	MUC16	8919119	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-0.063000	0.11655	-0.234000	0.09782	0.557000	0.71058	TCA		0.468	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		10	32	0	0	0	1	0	10	32					C	9058119	G	C	9058119	4	2	114	1	0	0	0	0	0	1	0	0	9973	1294	45	5	14524	5	MUC16	19	9058119	Nonsense_Mutation	SNP	G	TCGA-EJ-A46F-01A-31D-A257-08	7071191	9058119	50070864	37	6110											
RASAL3	64926	broad.mit.edu	37	chr19	15574887	15574887	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtctggctccggcggtgggtTcttatgcctcccccagaggg	3	10	15	13	2	2	1	0	0	2	1	4	1	4	1	4	5	1	2	4	5	1	2			TCGA-EJ-A46F-01A-31D-A257-08	TCGA-EJ-A46F-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc6d5463-8229-4c14-b625-910f36daf247	a3cec60f-0430-4c8a-b14c-1fec64f3e1ac	g.chr19:15574887T>C	ENST00000343625.7	-	2	368	c.283A>G	c.(283-285)Aac>Gac	p.N95D		NM_022904.1	NP_075055.1	Q86YV0	RASL3_HUMAN	RAS protein activator like 3	95					negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)	Ras GTPase activator activity (GO:0005099)			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|skin(1)	18						GGCGGTGGGTTCTTATGCCTC	0.672																																						ENST00000343625.6																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|skin(1)	18						c.(283-285)Aac>Gac		RAS protein activator like 3							16	18	18					19																	15574887		1982	4162	6144	SO:0001583	missense	64926				negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity	g.chr19:15574887T>C		CCDS46006.1	19p13.12	2008-12-18			ENSG00000105122	ENSG00000105122			26129	protein-coding gene	gene with protein product						12477932	Standard	NM_022904		Approved	FLJ21438	uc002nbe.2	Q86YV0		ENST00000343625.7:c.283A>G	19.37:g.15574887T>C	ENSP00000341905:p.Asn95Asp						p.N95D	NM_022904.1	NP_075055.1	Q86YV0	RASL3_HUMAN			2	363	-			95					Q8N2T9|Q9H735	Missense_Mutation	SNP	ENST00000343625.7	37	c.283A>G	CCDS46006.1	.	.	.	.	.	.	.	.	.	.	T	10.66	1.411955	0.25465	.	.	ENSG00000105122	ENST00000343625	T	0.25085	1.82	4.08	4.08	0.47627	.	0.936381	0.08645	U	0.914874	T	0.17365	0.0417	N	0.22421	0.69	0.21579	N	0.999633	B	0.19817	0.039	B	0.19946	0.027	T	0.21930	-1.0231	10	0.11794	T	0.64	.	10.0175	0.42022	0.0:0.0:0.0:1.0	.	95	Q86YV0	RASL3_HUMAN	D	95	ENSP00000341905:N95D	ENSP00000341905:N95D	N	-	1	0	RASAL3	15435887	0.997000	0.39634	0.743000	0.31040	0.414000	0.31173	2.118000	0.41949	1.805000	0.52779	0.260000	0.18958	AAC		0.672	RASAL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461331.3	NM_022904		7	19	0	0	0	1	0	7	19					C	15574887	T	C	15574887	3	2	114	1	0	0	0	0	1	0	0	0	13065	1783	62	4	2820	4	RASAL3	19	15574887	Missense_Mutation	SNP	T	TCGA-EJ-A46F-01A-31D-A257-08	6516768	15574887	43554096	38	6111											
SLC5A5	6528	broad.mit.edu	37	chr19	17999206	17999206	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gccatctcctatctctattaCggtgccctgggcacgctgac	6	11	9	15	2	2	1	0	1	2	0	4	1	2	1	3	2	2	2	3	2	3	3	rs121909177		TCGA-EJ-A46F-01A-31D-A257-08	TCGA-EJ-A46F-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc6d5463-8229-4c14-b625-910f36daf247	a3cec60f-0430-4c8a-b14c-1fec64f3e1ac	g.chr19:17999206C>T	ENST00000222248.3	+	13	1940	c.1593C>T	c.(1591-1593)taC>taT	p.Y531Y		NM_000453.2	NP_000444.1	Q92911	SC5A5_HUMAN	solute carrier family 5 (sodium/iodide cotransporter), member 5	531					cellular nitrogen compound metabolic process (GO:0034641)|cellular response to cAMP (GO:0071320)|cellular response to gonadotropin stimulus (GO:0071371)|iodide transport (GO:0015705)|ion transport (GO:0006811)|small molecule metabolic process (GO:0044281)|thyroid hormone generation (GO:0006590)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	iodide transmembrane transporter activity (GO:0015111)|sodium:iodide symporter activity (GO:0008507)			NS(2)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|skin(3)	31						ATCTCTATTACGGTGCCCTGG	0.572																																					Melanoma(65;1008 1708 7910 46650)	ENST00000222248.3																			0				NS(2)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|skin(3)	31	GRCh37	CM981847	SLC5A5	M	rs121909177	c.(1591-1593)taC>taT		solute carrier family 5 (sodium/iodide cotransporter), member 5		C		1,4405	2.1+/-5.4	0,1,2202	137	117	124	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	1593	-4.1	0.9	19	dbSNP_133	124	0,8600		0,0,4300	no	coding-synonymous	SLC5A5	NM_000453.2		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		531/644	17999206	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	6528				cellular nitrogen compound metabolic process|cellular response to cAMP|cellular response to gonadotropin stimulus|hormone biosynthetic process	integral to membrane|nucleus|plasma membrane	iodide transmembrane transporter activity|sodium:iodide symporter activity	g.chr19:17999206C>T		CCDS12368.1	19p13.11	2013-07-19	2013-07-19		ENSG00000105641	ENSG00000105641		"Solute carriers"	11040	protein-coding gene	gene with protein product		601843	"solute carrier family 5 (sodium iodide symporter), member 5"			9231811	Standard	NM_000453		Approved	NIS	uc002nhr.4	Q92911		ENST00000222248.3:c.1593C>T	19.37:g.17999206C>T							p.Y531Y	NM_000453.2	NP_000444.1	Q92911	SC5A5_HUMAN			13	1940	+			531					O43702|Q2M335|Q9NYB6	Silent	SNP	ENST00000222248.3	37	c.1593C>T	CCDS12368.1																																																																																				0.572	SLC5A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466690.1			53	78	0	0	0	1	0	53	78					T	17999206	C	T	17999206	2	4	114	1	0	0	0	0	0	0	0	1	14668	547	19	1		1	SLC5A5	19	17999206	Silent	SNP	C	TCGA-EJ-A46F-01A-31D-A257-08	2424319	17999206	41129777	39	6112											
SPTBN4	57731	broad.mit.edu	37	chr19	40996148	40996148	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggtctggaccatcatcctgcGcttccaggtgaccctcgagt	6	10	11	14	2	2	1	1	1	1	0	5	3	4	2	4	3	1	1	4	3	0	1			TCGA-EJ-A46F-01A-31D-A257-08	TCGA-EJ-A46F-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc6d5463-8229-4c14-b625-910f36daf247	a3cec60f-0430-4c8a-b14c-1fec64f3e1ac	g.chr19:40996148G>A	ENST00000352632.3	+	4	574	c.488G>A	c.(487-489)cGc>cAc	p.R163H	SPTBN4_ENST00000598249.1_Missense_Mutation_p.R163H|SPTBN4_ENST00000338932.3_Missense_Mutation_p.R163H|SPTBN4_ENST00000344104.3_Missense_Mutation_p.R163H|SPTBN4_ENST00000595535.1_Missense_Mutation_p.R163H			Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4	163	Actin-binding.|CH 1. {ECO:0000255|PROSITE- ProRule:PRU00044}.				actin filament capping (GO:0051693)|adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cardiac conduction (GO:0061337)|central nervous system projection neuron axonogenesis (GO:0021952)|clustering of voltage-gated sodium channels (GO:0045162)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization to plasma membrane (GO:0090002)|fertilization (GO:0009566)|negative regulation of heart rate (GO:0010459)|positive regulation of multicellular organism growth (GO:0040018)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of sodium ion transport (GO:0002028)|sensory perception of sound (GO:0007605)|transmission of nerve impulse (GO:0019226)|vesicle-mediated transport (GO:0016192)	adherens junction (GO:0005912)|axon hillock (GO:0043203)|axon initial segment (GO:0043194)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|nuclear matrix (GO:0016363)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|PML body (GO:0016605)|spectrin (GO:0008091)	actin binding (GO:0003779)|ankyrin binding (GO:0030506)|phosphatase binding (GO:0019902)|phospholipid binding (GO:0005543)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			ATCATCCTGCGCTTCCAGGTG	0.577																																						ENST00000352632.3																			0				breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73						c.(487-489)cGc>cAc		spectrin, beta, non-erythrocytic 4							89	75	80					19																	40996148		2203	4300	6503	SO:0001583	missense	57731				actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport	cytosol|nuclear matrix|PML body|spectrin	actin binding|ankyrin binding|structural constituent of cytoskeleton	g.chr19:40996148G>A	AF082075	CCDS12559.1, CCDS42569.1	19q13.13	2013-01-10				ENSG00000160460		"Pleckstrin homology (PH) domain containing"	14896	protein-coding gene	gene with protein product		606214				11086001	Standard	NM_020971		Approved	SPTBN3, KIAA1642	uc002onz.3	Q9H254		ENST00000352632.3:c.488G>A	19.37:g.40996148G>A	ENSP00000263373:p.Arg163His					SPTBN4_ENST00000344104.3_Missense_Mutation_p.R163H|SPTBN4_ENST00000338932.3_Missense_Mutation_p.R163H|SPTBN4_ENST00000595535.1_Missense_Mutation_p.R163H|SPTBN4_ENST00000598249.1_Missense_Mutation_p.R163H	p.R163H			Q9H254	SPTN4_HUMAN	Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)		4	574	+			163			Actin-binding.|CH 1.		E9PGQ5|Q9H1K7|Q9H1K8|Q9H1K9|Q9H253|Q9H3G8|Q9HCD0	Missense_Mutation	SNP	ENST00000352632.3	37	c.488G>A	CCDS12559.1	.	.	.	.	.	.	.	.	.	.	G	35	5.550183	0.96501	.	.	ENSG00000160460	ENST00000428507;ENST00000352632;ENST00000338932;ENST00000344104	T;T;T	0.59364	0.27;0.27;0.27	4.76	4.76	0.60689	Calponin homology domain (5);	0.000000	0.64402	U	0.000014	T	0.69015	0.3064	L	0.41573	1.285	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.72475	-0.4282	10	0.87932	D	0	.	16.6882	0.85315	0.0:0.0:1.0:0.0	.	163;163	Q9H254;Q71S06	SPTN4_HUMAN;.	H	163	ENSP00000263373:R163H;ENSP00000340345:R163H;ENSP00000340741:R163H	ENSP00000340345:R163H	R	+	2	0	SPTBN4	45687988	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	9.586000	0.98226	2.459000	0.83118	0.579000	0.79373	CGC		0.577	SPTBN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462559.2			18	20	0	0	0	1	0	18	20					A	40996148	G	A	40996148	3	1	114	1	0	0	0	0	1	0	0	0	15120	1087	38	1	498	1	SPTBN4	19	40996148	Missense_Mutation	SNP	G	TCGA-EJ-A46F-01A-31D-A257-08	22996942	40996148	18132835	40	6113											
PLTP	5360	broad.mit.edu	37	chr20	44538242	44538242	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcatccgtccagcgggatccCgggagagctccagaccagtg	8	6	13	14	3	1	2	1	0	0	2	5	4	5	3	5	2	2	1	5	2	0	0	rs200777651		TCGA-EJ-A46F-01A-31D-A257-08	TCGA-EJ-A46F-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc6d5463-8229-4c14-b625-910f36daf247	a3cec60f-0430-4c8a-b14c-1fec64f3e1ac	g.chr20:44538242C>T	ENST00000477313.1	-	4	992	c.398G>A	c.(397-399)cGg>cAg	p.R133Q	PLTP_ENST00000542937.1_Missense_Mutation_p.R153Q|PLTP_ENST00000354050.4_Intron|PLTP_ENST00000372431.3_Missense_Mutation_p.R133Q|PLTP_ENST00000420868.2_Intron|PLTP_ENST00000372420.1_Missense_Mutation_p.R45Q			P55058	PLTP_HUMAN	phospholipid transfer protein	133					lipid metabolic process (GO:0006629)|lipid transport (GO:0006869)|sperm motility (GO:0030317)|vitamin E biosynthetic process (GO:0010189)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	lipid binding (GO:0008289)			endometrium(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)	21		Myeloproliferative disorder(115;0.0122)				AGCGGGATCCCGGGAGAGCTC	0.597																																						ENST00000542937.1																			0				endometrium(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)	21						c.(457-459)cGg>cAg		phospholipid transfer protein							83	83	83					20																	44538242		2203	4300	6503	SO:0001583	missense	5360				cellular lipid metabolic process|lipid transport	extracellular region	lipid binding	g.chr20:44538242C>T	L26232	CCDS13386.1, CCDS13387.1, CCDS56196.1, CCDS56197.1	20q13.12	2011-08-16			ENSG00000100979	ENSG00000100979		"BPI fold containing"	9093	protein-coding gene	gene with protein product	"BPI fold containing family E"	172425					Standard	NM_006227		Approved	BPIFE	uc002xqn.2	P55058	OTTHUMG00000033047	ENST00000477313.1:c.398G>A	20.37:g.44538242C>T	ENSP00000417138:p.Arg133Gln					PLTP_ENST00000354050.4_Intron|PLTP_ENST00000372420.1_Missense_Mutation_p.R45Q|PLTP_ENST00000372431.3_Missense_Mutation_p.R133Q|PLTP_ENST00000420868.2_Intron|PLTP_ENST00000477313.1_Missense_Mutation_p.R133Q	p.R153Q			P55058	PLTP_HUMAN			4	992	-		Myeloproliferative disorder(115;0.0122)	133					A8K006|B4DDD5|B4DRB4|E1P5N8|E7EV16|Q8WTT1|Q9BR07|Q9BSH8	Missense_Mutation	SNP	ENST00000477313.1	37	c.458G>A	CCDS13386.1	.	.	.	.	.	.	.	.	.	.	C	11.87	1.768024	0.31320	.	.	ENSG00000100979	ENST00000372420;ENST00000372431;ENST00000477313;ENST00000542937	T;T;T;T	0.06371	3.31;3.31;3.31;3.31	4.97	2.77	0.32553	Lipid-binding serum glycoprotein, N-terminal (2);Bactericidal permeability-increasing protein, alpha/beta domain (1);	0.356490	0.30219	N	0.010136	T	0.04092	0.0114	N	0.20401	0.57	0.28403	N	0.918545	B;B;B;B	0.24533	0.105;0.105;0.105;0.105	B;B;B;B	0.20184	0.017;0.028;0.028;0.028	T	0.36529	-0.9744	10	0.29301	T	0.29	-8.5399	8.0158	0.30381	0.0:0.6193:0.0:0.3807	.	45;133;133;153	B4DDD5;Q53H91;P55058;B3KUE5	.;.;PLTP_HUMAN;.	Q	45;133;133;153	ENSP00000361497:R45Q;ENSP00000361508:R133Q;ENSP00000417138:R133Q;ENSP00000440296:R153Q	ENSP00000361497:R45Q	R	-	2	0	PLTP	43971649	1.000000	0.71417	0.869000	0.34112	0.632000	0.37999	1.347000	0.33975	0.418000	0.25898	0.462000	0.41574	CGG		0.597	PLTP-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354633.1	NM_006227		7	138	0	0	0	1	0	7	138					T	44538242	C	T	44538242	3	4	114	1	0	0	0	0	1	0	0	0	12114	652	23	2	1131	2	PLTP	20	44538242	Missense_Mutation	SNP	C	TCGA-EJ-A46F-01A-31D-A257-08		44538242	18487278	41	6114											
TOP3B	8940	broad.mit.edu	37	chr22	22322019	22322019	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	catgtttaaaaacatctgtgCgatctcccggtcaaacactc	12	11	6	12	2	3	0	1	0	2	0	5	1	3	0	1	1	3	1	1	1	4	2			TCGA-EJ-A46F-01A-31D-A257-08	TCGA-EJ-A46F-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc6d5463-8229-4c14-b625-910f36daf247	a3cec60f-0430-4c8a-b14c-1fec64f3e1ac	g.chr22:22322019C>A	ENST00000398793.2	-	8	1242	c.808G>T	c.(808-810)Gca>Tca	p.A270S	TOP3B_ENST00000413067.2_5'UTR|TOP3B_ENST00000357179.5_Missense_Mutation_p.A270S	NM_003935.3	NP_003926.1	O95985	TOP3B_HUMAN	topoisomerase (DNA) III beta	270					chromosome segregation (GO:0007059)|DNA topological change (GO:0006265)	condensed chromosome (GO:0000793)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA topoisomerase activity (GO:0003916)|DNA topoisomerase type I activity (GO:0003917)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(4)|lung(9)|ovary(1)	26	Colorectal(54;0.105)			READ - Rectum adenocarcinoma(21;0.145)		AACATCTGTGCGATCTCCCGG	0.507																																						ENST00000398793.2																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(4)|lung(9)|ovary(1)	26						c.(808-810)Gca>Tca		topoisomerase (DNA) III beta							164	138	147					22																	22322019		2203	4300	6503	SO:0001583	missense	8940				DNA topological change	nucleus	ATP binding|DNA topoisomerase type I activity|protein binding	g.chr22:22322019C>A	AF017146	CCDS13797.1	22q11.22	2011-05-24			ENSG00000100038	ENSG00000100038			11993	protein-coding gene	gene with protein product		603582				9786842, 9074928	Standard	XM_005261811		Approved		uc002zvs.3	O95985	OTTHUMG00000167438	ENST00000398793.2:c.808G>T	22.37:g.22322019C>A	ENSP00000381773:p.Ala270Ser					TOP3B_ENST00000357179.5_Missense_Mutation_p.A270S|TOP3B_ENST00000413067.2_5'UTR	p.A270S	NM_003935.3	NP_003926.1	O95985	TOP3B_HUMAN		READ - Rectum adenocarcinoma(21;0.145)	8	1242	-	Colorectal(54;0.105)		270					A0M8Q3|Q9BUP5	Missense_Mutation	SNP	ENST00000398793.2	37	c.808G>T	CCDS13797.1	.	.	.	.	.	.	.	.	.	.	C	29.2	4.989605	0.93106	.	.	ENSG00000100038	ENST00000357179;ENST00000398793	T;T	0.31769	1.48;1.48	4.71	4.71	0.59529	DNA topoisomerase, type IA, core domain (1);DNA topoisomerase, type IA, central (1);	0.051089	0.85682	D	0.000000	T	0.54062	0.1835	M	0.91196	3.185	0.80722	D	1	P	0.42961	0.795	P	0.48189	0.57	T	0.64537	-0.6384	10	0.46703	T	0.11	.	17.8418	0.88717	0.0:1.0:0.0:0.0	.	270	O95985	TOP3B_HUMAN	S	270	ENSP00000349705:A270S;ENSP00000381773:A270S	ENSP00000349705:A270S	A	-	1	0	TOP3B	20652019	1.000000	0.71417	0.980000	0.43619	0.872000	0.50106	7.487000	0.81328	2.439000	0.82584	0.655000	0.94253	GCA		0.507	TOP3B-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320251.1	NM_003935		32	46	1	0	1.61788e-16	1	1.70014e-16	32	46					A	22322019	C	A	22322019	3	1	114	1	0	0	0	0	1	0	0	0	16365	768	27	5	1824	5	TOP3B	22	22322019	Missense_Mutation	SNP	C	TCGA-EJ-A46F-01A-31D-A257-08		22322019	28982547	42	6115											
SEZ6L	23544	broad.mit.edu	37	chr22	26761444	26761444	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tccctcaccttcatgtgctaCgaaggctttgagctcatggg	7	12	10	12	1	3	1	3	1	0	0	4	2	4	1	2	2	3	3	2	2	2	3	rs146313552	byFrequency	TCGA-EJ-A46F-01A-31D-A257-08	TCGA-EJ-A46F-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc6d5463-8229-4c14-b625-910f36daf247	a3cec60f-0430-4c8a-b14c-1fec64f3e1ac	g.chr22:26761444C>T	ENST00000248933.6	+	13	2801	c.2706C>T	c.(2704-2706)taC>taT	p.Y902Y	SEZ6L_ENST00000529632.2_Silent_p.Y902Y|SEZ6L_ENST00000404234.3_Silent_p.Y902Y|SEZ6L_ENST00000402979.1_Silent_p.Y675Y|SEZ6L_ENST00000360929.3_Silent_p.Y838Y|SEZ6L_ENST00000411842.2_Silent_p.Y99Y|SEZ6L_ENST00000403121.1_Intron|SEZ6L_ENST00000343706.4_Intron|SEZ6L_ENST00000494013.1_3'UTR			Q9BYH1	SE6L1_HUMAN	seizure related 6 homolog (mouse)-like	902	Sushi 5. {ECO:0000255|PROSITE- ProRule:PRU00302}.				adult locomotory behavior (GO:0008344)|cerebellar Purkinje cell layer development (GO:0021680)|regulation of protein kinase C signaling (GO:0090036)|synapse maturation (GO:0060074)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	80						TCATGTGCTACGAAGGCTTTG	0.552													C|||	2	0.000399361	0	0.0014	5008	,	,		19936	0		0.001	False		,,,				2504	0					ENST00000529632.2																			0				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	80						c.(2704-2706)taC>taT		seizure related 6 homolog (mouse)-like		C	,,,,,	2,4404	4.2+/-10.8	0,2,2201	114	96	102		2706,2706,2706,2514,,2706	-1.9	1	22	dbSNP_134	102	10,8590	7.7+/-29.5	0,10,4290	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,intron,coding-synonymous	SEZ6L	NM_001184773.1,NM_001184774.1,NM_001184775.1,NM_001184776.1,NM_001184777.1,NM_021115.4	,,,,,	0,12,6491	TT,TC,CC		0.1163,0.0454,0.0923	,,,,,	902/1024,902/1014,902/1012,838/950,,902/1025	26761444	12,12994	2203	4300	6503	SO:0001819	synonymous_variant	23544					endoplasmic reticulum membrane|integral to membrane		g.chr22:26761444C>T	AL050253	CCDS13833.1, CCDS54508.1, CCDS54510.1, CCDS54511.1, CCDS74837.1	22q12.1	2008-05-14	2001-11-28		ENSG00000100095	ENSG00000100095			10763	protein-coding gene	gene with protein product		607021	"seizure related gene 6 (mouse)-like"				Standard	NM_021115		Approved		uc003acb.3	Q9BYH1	OTTHUMG00000150870	ENST00000248933.6:c.2706C>T	22.37:g.26761444C>T						SEZ6L_ENST00000402979.1_Silent_p.Y675Y|SEZ6L_ENST00000494013.1_3'UTR|SEZ6L_ENST00000404234.3_Silent_p.Y902Y|SEZ6L_ENST00000343706.4_Intron|SEZ6L_ENST00000403121.1_Intron|SEZ6L_ENST00000360929.3_Silent_p.Y838Y|SEZ6L_ENST00000411842.2_Silent_p.Y99Y|SEZ6L_ENST00000248933.6_Silent_p.Y902Y	p.Y902Y	NM_001184774.1|NM_001184775.1|NM_001184777.1	NP_001171703.1|NP_001171704.1|NP_001171706.1	Q9BYH1	SE6L1_HUMAN			13	2902	+			902			Sushi 5.		A0AUW7|B0QYG4|B0QYG5|B7ZLJ6|G8JLP3|O95917|Q5THY5|Q6IBZ4|Q6UXD4|Q9NUI3|Q9NUI4|Q9NUI5|Q9Y2E1|Q9Y3J6	Silent	SNP	ENST00000248933.6	37	c.2706C>T	CCDS13833.1																																																																																				0.552	SEZ6L-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000320359.3			11	88	0	0	0	1	0	11	88					T	26761444	C	T	26761444	2	4	114	1	0	0	0	0	0	0	0	1	14143	547	19	1		1	SEZ6L	22	26761444	Silent	SNP	C	TCGA-EJ-A46F-01A-31D-A257-08	4439425	26761444	24543122	43	6116											
MTMR3	8897	broad.mit.edu	37	chr22	30409441	30409441	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	actcggatgatctgaatgaaCgttgcccagtgtttctgcag	9	12	11	9	2	2	3	0	3	2	0	3	4	2	4	1	1	3	3	1	1	2	2			TCGA-EJ-A46F-01A-31D-A257-08	TCGA-EJ-A46F-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc6d5463-8229-4c14-b625-910f36daf247	a3cec60f-0430-4c8a-b14c-1fec64f3e1ac	g.chr22:30409441C>T	ENST00000401950.2	+	14	1756	c.1414C>T	c.(1414-1416)Cgt>Tgt	p.R472C	MTMR3_ENST00000406629.1_Missense_Mutation_p.R472C|MTMR3_ENST00000351488.3_Missense_Mutation_p.R472C|MTMR3_ENST00000323630.5_Missense_Mutation_p.R336C|MTMR3_ENST00000333027.3_Missense_Mutation_p.R472C|CTA-85E5.10_ENST00000429350.1_RNA	NM_021090.3	NP_066576.1	Q13615	MTMR3_HUMAN	myotubularin related protein 3	472	Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}.				peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|protein dephosphorylation (GO:0006470)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extrinsic component of membrane (GO:0019898)|membrane (GO:0016020)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity (GO:0052629)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)			breast(3)|large_intestine(3)|ovary(2)|skin(8)|upper_aerodigestive_tract(1)	17			OV - Ovarian serous cystadenocarcinoma(5;0.00204)|Epithelial(10;0.06)|all cancers(5;0.107)			TCTGAATGAACGTTGCCCAGT	0.473																																						ENST00000333027.3																			0				breast(3)|large_intestine(3)|ovary(2)|skin(8)|upper_aerodigestive_tract(1)	17						c.(1414-1416)Cgt>Tgt		myotubularin related protein 3							322	260	281					22																	30409441		2203	4300	6503	SO:0001583	missense	8897				phosphatidylinositol dephosphorylation	cytoplasm|membrane|membrane fraction|nucleus	metal ion binding|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity	g.chr22:30409441C>T	U58034	CCDS13870.1, CCDS13871.1, CCDS46682.1	22q12.2	2011-06-09			ENSG00000100330	ENSG00000100330		"Zinc fingers, FYVE domain containing", "Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"	7451	protein-coding gene	gene with protein product		603558				8640223, 9736772	Standard	NM_153050		Approved	KIAA0371, ZFYVE10, FYVE-DSP1	uc003agv.4	Q13615	OTTHUMG00000151278	ENST00000401950.2:c.1414C>T	22.37:g.30409441C>T	ENSP00000384651:p.Arg472Cys					MTMR3_ENST00000401950.2_Missense_Mutation_p.R472C|MTMR3_ENST00000323630.5_Missense_Mutation_p.R336C|MTMR3_ENST00000351488.3_Missense_Mutation_p.R472C|CTA-85E5.10_ENST00000429350.1_RNA|MTMR3_ENST00000406629.1_Missense_Mutation_p.R472C	p.R472C	NM_153050.2|NM_153051.2	NP_694690.1|NP_694691.1	Q13615	MTMR3_HUMAN	OV - Ovarian serous cystadenocarcinoma(5;0.00204)|Epithelial(10;0.06)|all cancers(5;0.107)		14	1742	+			472			Myotubularin phosphatase.		A5PL26|A7MD32|Q9NYN5|Q9NYN6|Q9UDX6|Q9UEG3	Missense_Mutation	SNP	ENST00000401950.2	37	c.1414C>T	CCDS13870.1	.	.	.	.	.	.	.	.	.	.	C	26.6	4.754847	0.89843	.	.	ENSG00000100330	ENST00000401950;ENST00000333027;ENST00000323630;ENST00000351488;ENST00000406629	D;D;D;D;D	0.90444	-2.67;-2.67;-2.67;-2.67;-2.67	5.86	5.86	0.93980	Myotubularin phosphatase domain (1);	4.803150	0.00508	N	0.000174	D	0.97123	0.9060	M	0.86502	2.82	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.85130	0.997;0.973;0.997	D	0.87397	0.2367	10	0.87932	D	0	.	19.1654	0.93555	0.0:1.0:0.0:0.0	.	472;472;472	Q13615-3;Q13615;Q13615-2	.;MTMR3_HUMAN;.	C	472;472;336;472;472	ENSP00000384651:R472C;ENSP00000331649:R472C;ENSP00000318070:R336C;ENSP00000307271:R472C;ENSP00000384077:R472C	ENSP00000318070:R336C	R	+	1	0	MTMR3	28739441	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.563000	0.60823	2.778000	0.95560	0.655000	0.94253	CGT		0.473	MTMR3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000322066.1	NM_021090		19	155	0	0	0	1	0	19	155					T	30409441	C	T	30409441	3	4	114	1	0	0	0	0	1	0	0	0	9945	536	19	1	1460	1	MTMR3	22	30409441	Missense_Mutation	SNP	C	TCGA-EJ-A46F-01A-31D-A257-08	3647997	30409441	20895125	44	6117											
MPP1	4354	broad.mit.edu	37	chrX	154020488	154020488	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcctgtcccttgacctgggCagggctacctggggcaggag	5	8	15	13	0	0	1	0	1	0	0	2	2	2	2	4	5	1	3	4	5	1	2			TCGA-EJ-A46F-01A-31D-A257-08	TCGA-EJ-A46F-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc6d5463-8229-4c14-b625-910f36daf247	a3cec60f-0430-4c8a-b14c-1fec64f3e1ac	g.chrX:154020488C>T	ENST00000369534.3	-	2	322	c.175G>A	c.(175-177)Gcc>Acc	p.A59T	MPP1_ENST00000413259.3_Missense_Mutation_p.A29T|MPP1_ENST00000462825.1_Intron|MPP1_ENST00000393531.1_Missense_Mutation_p.A59T	NM_001166460.1|NM_001166461.1|NM_002436.3	NP_001159932.1|NP_001159933.1|NP_002427.1	Q00013	EM55_HUMAN	membrane protein, palmitoylated 1, 55kDa	59					nucleotide phosphorylation (GO:0046939)|regulation of neutrophil chemotaxis (GO:0090022)|signal transduction (GO:0007165)	cell projection (GO:0042995)|cortical cytoskeleton (GO:0030863)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|membrane (GO:0016020)	guanylate kinase activity (GO:0004385)			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(1)|lung(9)|ovary(2)|prostate(1)	21	all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					TTGACCTGGGCAGGGCTACCT	0.542																																						ENST00000413259.3																			0				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(1)|lung(9)|ovary(2)|prostate(1)	21						c.(85-87)Gcc>Acc		membrane protein, palmitoylated 1, 55kDa							106	89	95					X																	154020488		2203	4300	6503	SO:0001583	missense	4354				regulation of neutrophil chemotaxis|signal transduction	integral to plasma membrane|membrane fraction|stereocilium	guanylate kinase activity|protein binding	g.chrX:154020488C>T		CCDS14762.1, CCDS55544.1, CCDS55545.1	Xq28	2008-03-04	2002-08-29		ENSG00000130830	ENSG00000130830			7219	protein-coding gene	gene with protein product		305360	"membrane protein, palmitoylated 1 (55kD)"	DXS552E		1713685	Standard	NM_002436		Approved	PEMP	uc004fmp.2	Q00013	OTTHUMG00000024244	ENST00000369534.3:c.175G>A	X.37:g.154020488C>T	ENSP00000358547:p.Ala59Thr					MPP1_ENST00000462825.1_Intron|MPP1_ENST00000369534.3_Missense_Mutation_p.A59T|MPP1_ENST00000393531.1_Missense_Mutation_p.A59T	p.A29T	NM_001166462.1	NP_001159934.1	Q00013	EM55_HUMAN			3	477	-	all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)		59					B4DZV5|G3XAI1|Q2TSB6|Q5J7V5	Missense_Mutation	SNP	ENST00000369534.3	37	c.85G>A	CCDS14762.1	.	.	.	.	.	.	.	.	.	.	C	3.361	-0.130509	0.06753	.	.	ENSG00000130830	ENST00000369534;ENST00000413259;ENST00000393531;ENST00000393529;ENST00000369531	T;T;T;T;T	0.30448	2.24;2.26;2.1;1.53;1.91	5.3	0.438	0.16560	PDZ/DHR/GLGF (1);	0.418528	0.27181	N	0.020554	T	0.16685	0.0401	L	0.36672	1.1	0.09310	N	1	B;B;B;B	0.18968	0.0;0.032;0.0;0.032	B;B;B;B	0.20184	0.001;0.028;0.001;0.017	T	0.33548	-0.9864	10	0.08381	T	0.77	.	4.6821	0.12739	0.1432:0.4281:0.0:0.4287	.	59;29;59;59	B4E325;B4DZV5;G3XAI1;Q00013	.;.;.;EM55_HUMAN	T	59;29;59;13;59	ENSP00000358547:A59T;ENSP00000400155:A29T;ENSP00000377165:A59T;ENSP00000377163:A13T;ENSP00000358544:A59T	ENSP00000358544:A59T	A	-	1	0	MPP1	153673682	0.054000	0.20591	0.022000	0.16811	0.180000	0.23129	0.416000	0.21198	-0.397000	0.07691	0.600000	0.82982	GCC		0.542	MPP1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061191.3	NM_002436		7	52	0	0	0	1	0	7	52					T	154020488	C	T	154020488	3	4	114	1	0	0	0	0	1	0	0	0	9733	710	25	3	1269	3	MPP1	23	154020488	Missense_Mutation	SNP	C	TCGA-EJ-A46F-01A-31D-A257-08		154020488	1250072	45	6118											
FUNDC2	65991	broad.mit.edu	37	chrX	154282921	154282921	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	taactgggggatttttcggaGgctttctgcttggcatggca	6	14	14	7	1	1	0	0	0	1	0	2	2	1	2	0	6	2	4	0	6	1	5			TCGA-EJ-A46F-01A-31D-A257-08	TCGA-EJ-A46F-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc6d5463-8229-4c14-b625-910f36daf247	a3cec60f-0430-4c8a-b14c-1fec64f3e1ac	g.chrX:154282921G>C	ENST00000369498.3	+	5	798	c.544G>C	c.(544-546)Ggc>Cgc	p.G182R	FUNDC2_ENST00000484175.1_3'UTR	NM_023934.3	NP_076423.2	Q9BWH2	FUND2_HUMAN	FUN14 domain containing 2	182						mitochondrion (GO:0005739)|nucleus (GO:0005634)				breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)	13	all_cancers(53;3.51e-17)|all_epithelial(53;5.13e-11)|all_lung(58;3.84e-07)|Lung NSC(58;1.2e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					ATTTTTCGGAGGCTTTCTGCT	0.428																																						ENST00000369498.3																			0				breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)	13						c.(544-546)Ggc>Cgc		FUN14 domain containing 2							155	143	147					X																	154282921		2203	4300	6503	SO:0001583	missense	65991					mitochondrion		g.chrX:154282921G>C	AF267862	CCDS14763.1	Xq28	2010-03-12			ENSG00000165775	ENSG00000165775			24925	protein-coding gene	gene with protein product						12477932	Standard	NM_023934		Approved	HCBP6, DC44	uc004fmw.3	Q9BWH2	OTTHUMG00000013504	ENST00000369498.3:c.544G>C	X.37:g.154282921G>C	ENSP00000358510:p.Gly182Arg					FUNDC2_ENST00000484175.1_3'UTR	p.G182R	NM_023934.3	NP_076423.2	Q9BWH2	FUND2_HUMAN			5	798	+	all_cancers(53;3.51e-17)|all_epithelial(53;5.13e-11)|all_lung(58;3.84e-07)|Lung NSC(58;1.2e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)		182					B2R7W5|D3DWY5|Q8NHX8|Q9H2I6	Missense_Mutation	SNP	ENST00000369498.3	37	c.544G>C	CCDS14763.1	.	.	.	.	.	.	.	.	.	.	g	22.8	4.341331	0.81911	.	.	ENSG00000165775	ENST00000369498	.	.	.	5.37	5.37	0.77165	.	0.000000	0.85682	U	0.000000	T	0.80276	0.4593	M	0.85859	2.78	0.43540	D	0.995836	D	0.76494	0.999	D	0.73380	0.98	D	0.83501	0.0075	9	0.87932	D	0	.	13.7279	0.62769	0.0:0.0:1.0:0.0	.	182	Q9BWH2	FUND2_HUMAN	R	182	.	ENSP00000358510:G182R	G	+	1	0	FUNDC2	153936115	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.054000	0.76649	2.398000	0.81561	0.586000	0.80456	GGC		0.428	FUNDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000037641.3	NM_023934		4	86	0	0	0	1	0	4	86					C	154282921	G	C	154282921	3	2	114	1	0	0	0	0	1	0	0	0	6098	1000	35	5	562	5	FUNDC2	23	154282921	Missense_Mutation	SNP	G	TCGA-EJ-A46F-01A-31D-A257-08	262433	154282921	987639	46	6119											
UBXN10	127733	broad.mit.edu	37	chr1	20517520	20517520	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accaagacgagacgggcaccAtgaagacaagtgaagaagat	18	3	12	8	2	0	7	0	2	0	5	0	8	0	7	2	1	0	1	2	1	5	0			TCGA-EJ-A46G-01A-31D-A26M-08	TCGA-EJ-A46G-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc5e0ab-5177-49f7-8b17-e7782996202d	4f11c4f9-f9a5-424a-b0cb-8bf2f444e04a	g.chr1:20517520A>G	ENST00000375099.3	+	2	550	c.466A>G	c.(466-468)Atg>Gtg	p.M156V		NM_152376.3	NP_689589.1	Q96LJ8	UBX10_HUMAN	UBX domain protein 10	156										endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|ovary(2)|skin(2)	14						GACGGGCACCATGAAGACAAG	0.527																																						ENST00000375099.3																			0				endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|ovary(2)|skin(2)	14						c.(466-468)Atg>Gtg		UBX domain protein 10							48	52	50					1																	20517520		2203	4300	6503	SO:0001583	missense	127733							g.chr1:20517520A>G	AK058158	CCDS205.1	1p36.13	2008-07-25	2008-07-25	2008-07-25	ENSG00000162543	ENSG00000162543		"UBX domain containing"	26354	protein-coding gene	gene with protein product			"UBX domain containing 3"	UBXD3		12477932	Standard	NM_152376		Approved	FLJ25429	uc001bdb.3	Q96LJ8	OTTHUMG00000002708	ENST00000375099.3:c.466A>G	1.37:g.20517520A>G	ENSP00000364240:p.Met156Val						p.M156V	NM_152376.3	NP_689589.1	Q96LJ8	UBX10_HUMAN			2	550	+			156					Q5R386	Missense_Mutation	SNP	ENST00000375099.3	37	c.466A>G	CCDS205.1	.	.	.	.	.	.	.	.	.	.	A	0.001	-2.893607	0.00059	.	.	ENSG00000162543	ENST00000375099	.	.	.	4.33	-8.67	0.00863	.	2.022920	0.02242	N	0.065892	T	0.21186	0.0510	N	0.24115	0.695	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.29671	-1.0004	9	0.06236	T	0.91	0.0217	6.2598	0.20893	0.2665:0.1719:0.4765:0.0852	.	156	Q96LJ8	UBX10_HUMAN	V	156	.	ENSP00000364240:M156V	M	+	1	0	UBXN10	20390107	0.000000	0.05858	0.000000	0.03702	0.013000	0.08279	-2.917000	0.00695	-3.217000	0.00213	-0.468000	0.05107	ATG		0.527	UBXN10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007693.1	NM_152376		17	21	0	0	0	1	0	17	21					G	20517520	A	G	20517520	3	3	115	1	0	0	0	0	1	0	0	0	16909	217	8	4	468	4	UBXN10	1	20517520	Missense_Mutation	SNP	A	TCGA-EJ-A46G-01A-31D-A26M-08		20517520	228733101	1	6120											
TCHH	7062	broad.mit.edu	37	chr1	152082220	152082220	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctggcgccttctcttctccGgttcctctctcagcagctgc	2	13	8	18	2	4	0	1	0	3	0	8	0	5	0	4	2	3	3	4	2	0	3	rs113946258	byFrequency	TCGA-EJ-A46G-01A-31D-A26M-08	TCGA-EJ-A46G-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc5e0ab-5177-49f7-8b17-e7782996202d	4f11c4f9-f9a5-424a-b0cb-8bf2f444e04a	g.chr1:152082220G>C	ENST00000368804.1	-	2	3472	c.3473C>G	c.(3472-3474)cCg>cGg	p.P1158R		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	1158	10 X 30 AA tandem repeats.				keratinization (GO:0031424)	cytoskeleton (GO:0005856)	calcium ion binding (GO:0005509)			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCTCTTCTCCGGTTCCTCTCT	0.592																																						ENST00000368804.1																			0				NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105						c.(3472-3474)cCg>cGg		trichohyalin							71	70	70					1																	152082220		1986	4171	6157	SO:0001583	missense	7062				keratinization	cytoskeleton	calcium ion binding	g.chr1:152082220G>C	L09190	CCDS41396.1	1q21-q23	2013-01-10		2006-01-27	ENSG00000159450	ENSG00000159450		"EF-hand domain containing"	11791	protein-coding gene	gene with protein product		190370		THH		1431214	Standard	NM_007113		Approved		uc001ezp.3	Q07283	OTTHUMG00000013066	ENST00000368804.1:c.3473C>G	1.37:g.152082220G>C	ENSP00000357794:p.Pro1158Arg						p.P1158R	NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	3472	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1158			10 X 30 AA tandem repeats.		Q5VUI3	Missense_Mutation	SNP	ENST00000368804.1	37	c.3473C>G	CCDS41396.1	.	.	.	.	.	.	.	.	.	.	g	1.340	-0.594289	0.03771	.	.	ENSG00000159450	ENST00000368804	T	0.04603	3.59	1.86	-3.72	0.04411	.	.	.	.	.	T	0.00412	0.0013	N	0.02539	-0.55	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.45716	-0.9242	9	0.16420	T	0.52	.	1.558	0.02589	0.2814:0.2588:0.3346:0.1252	.	1158	Q07283	TRHY_HUMAN	R	1158	ENSP00000357794:P1158R	ENSP00000357794:P1158R	P	-	2	0	TCHH	150348844	0.000000	0.05858	0.024000	0.17045	0.006000	0.05464	-6.257000	0.00073	-1.230000	0.02561	-1.439000	0.01073	CCG		0.592	TCHH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036671.2	NM_007113		3	32	0	0	0	1	0	3	32					C	152082220	G	C	152082220	3	2	115	1	0	0	0	0	1	0	0	0	15697	1116	39	5	2362	5	TCHH	1	152082220	Missense_Mutation	SNP	G	TCGA-EJ-A46G-01A-31D-A26M-08	131564700	152082220	97168401	2	6121											
VANGL2	57216	broad.mit.edu	37	chr1	160389317	160389317	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccgtggtcctgctggagctgCgccagctccagcctcagttc	4	9	12	16	2	1	0	1	0	0	0	4	1	3	1	5	2	5	4	5	2	0	1			TCGA-EJ-A46G-01A-31D-A26M-08	TCGA-EJ-A46G-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc5e0ab-5177-49f7-8b17-e7782996202d	4f11c4f9-f9a5-424a-b0cb-8bf2f444e04a	g.chr1:160389317C>T	ENST00000368061.2	+	4	1192	c.718C>T	c.(718-720)Cgc>Tgc	p.R240C	VANGL2_ENST00000483408.1_3'UTR	NM_020335.2	NP_065068.1	Q9ULK5	VANG2_HUMAN	VANGL planar cell polarity protein 2	240					anterior/posterior pattern specification (GO:0009952)|apical protein localization (GO:0045176)|cell migration involved in kidney development (GO:0035787)|cochlea morphogenesis (GO:0090103)|convergent extension involved in axis elongation (GO:0060028)|convergent extension involved in neural plate elongation (GO:0022007)|digestive tract morphogenesis (GO:0048546)|establishment of body hair planar orientation (GO:0048105)|establishment of planar polarity (GO:0001736)|establishment of planar polarity involved in neural tube closure (GO:0090177)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|glomerulus development (GO:0032835)|hair follicle development (GO:0001942)|heart looping (GO:0001947)|inner ear receptor stereocilium organization (GO:0060122)|kidney morphogenesis (GO:0060993)|lateral sprouting involved in lung morphogenesis (GO:0060490)|membranous septum morphogenesis (GO:0003149)|muscular septum morphogenesis (GO:0003150)|neural tube closure (GO:0001843)|nonmotile primary cilium assembly (GO:0035058)|orthogonal dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060488)|planar cell polarity pathway involved in axis elongation (GO:0003402)|planar cell polarity pathway involved in heart morphogenesis (GO:0061346)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|planar dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060489)|positive regulation of JUN kinase activity (GO:0043507)|post-anal tail morphogenesis (GO:0036342)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of Wnt signaling pathway (GO:0030111)|Rho protein signal transduction (GO:0007266)|somatic stem cell division (GO:0048103)|somatic stem cell maintenance (GO:0035019)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell pole (GO:0060187)|cell-cell junction (GO:0005911)|ER to Golgi transport vesicle (GO:0030134)|integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)				biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(1)	37	all_cancers(52;1.08e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			GCTGGAGCTGCGCCAGCTCCA	0.657																																						ENST00000368061.2																			0				biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(1)	37						c.(718-720)Cgc>Tgc		VANGL planar cell polarity protein 2							50	54	53					1																	160389317		2203	4300	6503	SO:0001583	missense	57216				apical protein localization|heart looping|nonmotile primary cilium assembly	apical plasma membrane|integral to membrane		g.chr1:160389317C>T	AB033041	CCDS30915.1	1q22-q23	2013-03-05	2013-03-05		ENSG00000162738	ENSG00000162738			15511	protein-coding gene	gene with protein product	"vang, van gogh-like 2", "loop-tail-associated protein", "strabismus"	600533	"vang (van gogh, Drosophila)-like 2, vang, van gogh-like 2 (Drosophila)", "vang-like 2 (van gogh, Drosophila)"			11431695	Standard	NM_020335		Approved	KIAA1215, LTAP, LPP1, STBM, STB1, STBM1, MGC119403, MGC119404	uc001fwc.2	Q9ULK5	OTTHUMG00000033122	ENST00000368061.2:c.718C>T	1.37:g.160389317C>T	ENSP00000357040:p.Arg240Cys					VANGL2_ENST00000483408.1_3'UTR	p.R240C	NM_020335.2	NP_065068.1	Q9ULK5	VANG2_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)		4	1192	+	all_cancers(52;1.08e-18)|all_hematologic(112;0.093)		240					D3DVE9|Q5T212	Missense_Mutation	SNP	ENST00000368061.2	37	c.718C>T	CCDS30915.1	.	.	.	.	.	.	.	.	.	.	C	23.5	4.428099	0.83667	.	.	ENSG00000162738	ENST00000368061	D	0.87334	-2.24	5.12	5.12	0.69794	.	0.062472	0.64402	D	0.000007	D	0.93370	0.7886	M	0.89904	3.07	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.94209	0.7457	10	0.87932	D	0	-19.2119	12.5776	0.56373	0.1663:0.8337:0.0:0.0	.	240	Q9ULK5	VANG2_HUMAN	C	240	ENSP00000357040:R240C	ENSP00000357040:R240C	R	+	1	0	VANGL2	158655941	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.586000	0.53950	2.518000	0.84900	0.563000	0.77884	CGC		0.657	VANGL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080677.1	NM_020335		20	26	0	0	0	1	0	20	26					T	160389317	C	T	160389317	3	4	115	1	0	0	0	0	1	0	0	0	17117	768	27	1	728	1	VANGL2	1	160389317	Missense_Mutation	SNP	C	TCGA-EJ-A46G-01A-31D-A26M-08	8307097	160389317	88861304	3	6122											
VANGL2	57216	broad.mit.edu	37	chr1	160394001	160394001	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	taccttcggaccaccaagcaGcagccctaccacaccatgga	12	5	7	17	1	0	0	0	0	0	0	1	2	0	2	6	2	5	2	6	2	3	3			TCGA-EJ-A46G-01A-31D-A26M-08	TCGA-EJ-A46G-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc5e0ab-5177-49f7-8b17-e7782996202d	4f11c4f9-f9a5-424a-b0cb-8bf2f444e04a	g.chr1:160394001G>A	ENST00000368061.2	+	7	1707	c.1233G>A	c.(1231-1233)caG>caA	p.Q411Q		NM_020335.2	NP_065068.1	Q9ULK5	VANG2_HUMAN	VANGL planar cell polarity protein 2	411					anterior/posterior pattern specification (GO:0009952)|apical protein localization (GO:0045176)|cell migration involved in kidney development (GO:0035787)|cochlea morphogenesis (GO:0090103)|convergent extension involved in axis elongation (GO:0060028)|convergent extension involved in neural plate elongation (GO:0022007)|digestive tract morphogenesis (GO:0048546)|establishment of body hair planar orientation (GO:0048105)|establishment of planar polarity (GO:0001736)|establishment of planar polarity involved in neural tube closure (GO:0090177)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|glomerulus development (GO:0032835)|hair follicle development (GO:0001942)|heart looping (GO:0001947)|inner ear receptor stereocilium organization (GO:0060122)|kidney morphogenesis (GO:0060993)|lateral sprouting involved in lung morphogenesis (GO:0060490)|membranous septum morphogenesis (GO:0003149)|muscular septum morphogenesis (GO:0003150)|neural tube closure (GO:0001843)|nonmotile primary cilium assembly (GO:0035058)|orthogonal dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060488)|planar cell polarity pathway involved in axis elongation (GO:0003402)|planar cell polarity pathway involved in heart morphogenesis (GO:0061346)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|planar dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060489)|positive regulation of JUN kinase activity (GO:0043507)|post-anal tail morphogenesis (GO:0036342)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of Wnt signaling pathway (GO:0030111)|Rho protein signal transduction (GO:0007266)|somatic stem cell division (GO:0048103)|somatic stem cell maintenance (GO:0035019)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell pole (GO:0060187)|cell-cell junction (GO:0005911)|ER to Golgi transport vesicle (GO:0030134)|integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)				biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(1)	37	all_cancers(52;1.08e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			CCACCAAGCAGCAGCCCTACC	0.592																																						ENST00000368061.2																			0				biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(1)	37						c.(1231-1233)caG>caA		VANGL planar cell polarity protein 2							137	112	121					1																	160394001		2203	4300	6503	SO:0001819	synonymous_variant	57216				apical protein localization|heart looping|nonmotile primary cilium assembly	apical plasma membrane|integral to membrane		g.chr1:160394001G>A	AB033041	CCDS30915.1	1q22-q23	2013-03-05	2013-03-05		ENSG00000162738	ENSG00000162738			15511	protein-coding gene	gene with protein product	"vang, van gogh-like 2", "loop-tail-associated protein", "strabismus"	600533	"vang (van gogh, Drosophila)-like 2, vang, van gogh-like 2 (Drosophila)", "vang-like 2 (van gogh, Drosophila)"			11431695	Standard	NM_020335		Approved	KIAA1215, LTAP, LPP1, STBM, STB1, STBM1, MGC119403, MGC119404	uc001fwc.2	Q9ULK5	OTTHUMG00000033122	ENST00000368061.2:c.1233G>A	1.37:g.160394001G>A							p.Q411Q	NM_020335.2	NP_065068.1	Q9ULK5	VANG2_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)		7	1707	+	all_cancers(52;1.08e-18)|all_hematologic(112;0.093)		411					D3DVE9|Q5T212	Silent	SNP	ENST00000368061.2	37	c.1233G>A	CCDS30915.1																																																																																				0.592	VANGL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080677.1	NM_020335		20	39	0	0	0	1	0	20	39					A	160394001	G	A	160394001	2	1	115	1	0	0	0	0	0	0	0	1	17117	962	34	3		3	VANGL2	1	160394001	Silent	SNP	G	TCGA-EJ-A46G-01A-31D-A26M-08	4684	160394001	88856620	4	6123											
CNTN2	6900	broad.mit.edu	37	chr1	205027445	205027445	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gcctggcctccaacccagtgGgcaccgttgtcagcagggag	7	6	14	14	1	1	0	1	0	0	0	2	1	2	1	5	3	2	3	5	3	1	1			TCGA-EJ-A46G-01A-31D-A26M-08	TCGA-EJ-A46G-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc5e0ab-5177-49f7-8b17-e7782996202d	4f11c4f9-f9a5-424a-b0cb-8bf2f444e04a	g.chr1:205027445G>T	ENST00000331830.4	+	4	636	c.352G>T	c.(352-354)Ggc>Tgc	p.G118C		NM_005076.3	NP_005067.1	Q02246	CNTN2_HUMAN	contactin 2 (axonal)	118	Ig-like C2-type 1.				adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|cell adhesion (GO:0007155)|cellular protein localization (GO:0034613)|central nervous system myelination (GO:0022010)|cerebral cortex GABAergic interneuron migration (GO:0021853)|clustering of voltage-gated potassium channels (GO:0045163)|establishment of protein localization to juxtaparanode region of axon (GO:0071206)|learning (GO:0007612)|microtubule cytoskeleton organization (GO:0000226)|negative regulation of neuron differentiation (GO:0045665)|positive regulation of adenosine receptor signaling pathway (GO:0060168)|positive regulation of protein processing (GO:0010954)|presynaptic membrane organization (GO:0097090)|receptor internalization (GO:0031623)|regulation of astrocyte differentiation (GO:0048710)|regulation of axon diameter (GO:0031133)|regulation of neuronal synaptic plasticity (GO:0048168)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|juxtaparanode region of axon (GO:0044224)|myelin sheath (GO:0043209)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|synapse (GO:0045202)|voltage-gated potassium channel complex (GO:0008076)	carbohydrate binding (GO:0030246)|identical protein binding (GO:0042802)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(11)|lung(23)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	54	all_cancers(21;0.144)|Breast(84;0.0437)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			CAACCCAGTGGGCACCGTTGT	0.642																																					Melanoma(183;2548 2817 37099 41192)	ENST00000331830.4																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(11)|lung(23)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	54						c.(352-354)Ggc>Tgc		contactin 2 (axonal)							27	29	29					1																	205027445		2203	4300	6503	SO:0001583	missense	6900				axon guidance|clustering of voltage-gated potassium channels	anchored to membrane|juxtaparanode region of axon|myelin sheath|node of Ranvier|synapse part	identical protein binding	g.chr1:205027445G>T	X67734	CCDS1449.1	1q32.1	2013-02-11			ENSG00000184144	ENSG00000184144		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	2172	protein-coding gene	gene with protein product		190197		TAX, AXT		8307567, 8586965	Standard	NM_005076		Approved	TAG-1, TAX1	uc001hbr.3	Q02246	OTTHUMG00000037105	ENST00000331830.4:c.352G>T	1.37:g.205027445G>T	ENSP00000330633:p.Gly118Cys						p.G118C	NM_005076.3	NP_005067.1	Q02246	CNTN2_HUMAN	KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)		4	636	+	all_cancers(21;0.144)|Breast(84;0.0437)		118			Ig-like C2-type 1.		P78432|Q5T054	Missense_Mutation	SNP	ENST00000331830.4	37	c.352G>T	CCDS1449.1	.	.	.	.	.	.	.	.	.	.	G	32	5.150663	0.94645	.	.	ENSG00000184144	ENST00000331830	T	0.60920	0.15	5.4	5.4	0.78164	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.53938	D	0.000044	D	0.86623	0.5977	H	0.98980	4.39	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.92156	0.5732	10	0.87932	D	0	.	18.7642	0.91865	0.0:0.0:1.0:0.0	.	118	Q02246	CNTN2_HUMAN	C	118	ENSP00000330633:G118C	ENSP00000330633:G118C	G	+	1	0	CNTN2	203294068	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.869000	0.99810	2.508000	0.84585	0.655000	0.94253	GGC		0.642	CNTN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090080.3	NM_005076		3	39	1	0	6.4e-05	1	7.24819e-05	3	39					T	205027445	G	T	205027445	3	4	115	1	0	0	0	0	1	0	0	0	3641	1232	43	5	362	5	CNTN2	1	205027445	Missense_Mutation	SNP	G	TCGA-EJ-A46G-01A-31D-A26M-08	44633444	205027445	44223176	5	6124											
USH2A	7399	broad.mit.edu	37	chr1	216462740	216462740	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaagtaatccttgcacagcTcacagttccttcctgcatca	12	11	5	13	0	2	0	2	0	0	0	5	0	5	0	3	0	3	5	3	0	3	4			TCGA-EJ-A46G-01A-31D-A26M-08	TCGA-EJ-A46G-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc5e0ab-5177-49f7-8b17-e7782996202d	4f11c4f9-f9a5-424a-b0cb-8bf2f444e04a	g.chr1:216462740T>A	ENST00000307340.3	-	11	2239	c.1853A>T	c.(1852-1854)gAg>gTg	p.E618V	USH2A_ENST00000366942.3_Missense_Mutation_p.E618V|USH2A_ENST00000366943.2_Missense_Mutation_p.E618V	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	618	Laminin EGF-like 2. {ECO:0000255|PROSITE- ProRule:PRU00460}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		CTTGCACAGCTCACAGTTCCT	0.403										HNSCC(13;0.011)																												ENST00000366943.2																			0				NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527						c.(1852-1854)gAg>gTg		Usher syndrome 2A (autosomal recessive, mild)							156	139	145					1																	216462740		2203	4300	6503	SO:0001583	missense	7399				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	g.chr1:216462740T>A	AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"Fibronectin type III domain containing"	12601	protein-coding gene	gene with protein product	"usherin"	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.1853A>T	1.37:g.216462740T>A	ENSP00000305941:p.Glu618Val	HNSCC(13;0.011)				USH2A_ENST00000307340.3_Missense_Mutation_p.E618V|USH2A_ENST00000366942.3_Missense_Mutation_p.E618V	p.E618V			O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	11	2239	-			618			Laminin EGF-like 2.		Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	c.1853A>T	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	T	20.2	3.958037	0.73902	.	.	ENSG00000042781	ENST00000307340;ENST00000366943;ENST00000366942	T;T;T	0.66099	-0.19;-0.19;-0.19	5.43	4.27	0.50696	EGF-like, laminin (4);	0.000000	0.43919	D	0.000505	D	0.84179	0.5415	H	0.96365	3.81	0.54753	D	0.999987	D;D	0.76494	0.999;0.999	D;D	0.75484	0.986;0.977	D	0.87448	0.2399	10	0.87932	D	0	.	11.7967	0.52104	0.1317:0.0:0.0:0.8683	.	618;618	O75445-2;O75445	.;USH2A_HUMAN	V	618	ENSP00000305941:E618V;ENSP00000355910:E618V;ENSP00000355909:E618V	ENSP00000305941:E618V	E	-	2	0	USH2A	214529363	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.007000	0.76335	0.948000	0.37687	0.455000	0.32223	GAG		0.403	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		6	45	0	0	0	1	0	6	45					A	216462740	T	A	216462740	3	1	115	1	0	0	0	0	1	0	0	0	17033	1551	54	5	14017	5	USH2A	1	216462740	Missense_Mutation	SNP	T	TCGA-EJ-A46G-01A-31D-A26M-08	11435295	216462740	32787881	6	6125											
INPP4A	3631	broad.mit.edu	37	chr2	99182212	99182212	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctccgcagacatgctgccCgtcatcacaggaaatcggta	10	7	10	14	3	2	1	2	0	0	1	4	2	3	2	3	2	2	3	3	2	2	1	rs374951094		TCGA-EJ-A46G-01A-31D-A26M-08	TCGA-EJ-A46G-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc5e0ab-5177-49f7-8b17-e7782996202d	4f11c4f9-f9a5-424a-b0cb-8bf2f444e04a	g.chr2:99182212C>T	ENST00000523221.1	+	19	2277	c.2277C>T	c.(2275-2277)ccC>ccT	p.P759P	INPP4A_ENST00000409540.3_Silent_p.P720P|INPP4A_ENST00000409016.4_Silent_p.P720P|INPP4A_ENST00000074304.5_Silent_p.P759P|INPP4A_ENST00000409851.3_Silent_p.P754P|INPP4A_ENST00000409463.1_Silent_p.P88P|INPP4A_ENST00000545415.1_Silent_p.P720P			Q96PE3	INP4A_HUMAN	inositol polyphosphate-4-phosphatase, type I, 107kDa	759					inositol phosphate metabolic process (GO:0043647)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity (GO:0016316)|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity (GO:0034597)			breast(1)|endometrium(9)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|prostate(4)|upper_aerodigestive_tract(4)	43						ACATGCTGCCCGTCATCACAG	0.483																																						ENST00000074304.5																			0				breast(1)|endometrium(9)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|prostate(4)|upper_aerodigestive_tract(4)	43						c.(2275-2277)ccC>ccT		inositol polyphosphate-4-phosphatase, type I, 107kDa		C	,,,	0,4128		0,0,2064	77	83	81		2277,2262,2160,2160	-10.5	0.2	2		81	1,8423		0,1,4211	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	INPP4A	NM_001134224.1,NM_001134225.1,NM_001566.2,NM_004027.2	,,,	0,1,6275	TT,TC,CC		0.0119,0.0,0.0080	,,,	759/978,754/973,720/955,720/939	99182212	1,12551	2064	4212	6276	SO:0001819	synonymous_variant	3631				signal transduction		phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity	g.chr2:99182212C>T	U26398	CCDS46369.1, CCDS46370.1, CCDS46371.1, CCDS46372.1	2q11.2	2008-05-27	2002-08-29		ENSG00000040933	ENSG00000040933			6074	protein-coding gene	gene with protein product		600916	"inositol polyphosphate-4-phosphatase, type I, 107kD"	INPP4		7608176, 9295334	Standard	NM_004027		Approved		uc002syy.3	Q96PE3	OTTHUMG00000153106	ENST00000523221.1:c.2277C>T	2.37:g.99182212C>T						INPP4A_ENST00000545415.1_Silent_p.P720P|INPP4A_ENST00000523221.1_Silent_p.P759P|INPP4A_ENST00000409851.3_Silent_p.P754P|INPP4A_ENST00000409540.3_Silent_p.P720P|INPP4A_ENST00000409016.3_Silent_p.P720P|INPP4A_ENST00000409463.1_Silent_p.P88P	p.P759P	NM_001134224.1	NP_001127696.1	Q96PE3	INP4A_HUMAN			21	2670	+			759					O15326|Q13187|Q53TD8|Q8TC02	Silent	SNP	ENST00000523221.1	37	c.2277C>T	CCDS46369.1																																																																																				0.483	INPP4A-009	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000376095.1	NM_001566		16	47	0	0	0	1	0	16	47					T	99182212	C	T	99182212	2	4	115	1	0	0	0	0	0	0	0	1	7752	639	23	2		2	INPP4A	2	99182212	Silent	SNP	C	TCGA-EJ-A46G-01A-31D-A26M-08		99182212	144017161	7	6126											
TANC1	85461	broad.mit.edu	37	chr2	160050845	160050845	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aataatgccccaatcctgtgCgtccagtctcaccttggcca	9	10	7	15	1	1	0	1	0	1	0	4	0	3	0	6	1	2	0	6	1	3	2	rs201860716		TCGA-EJ-A46G-01A-31D-A26M-08	TCGA-EJ-A46G-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc5e0ab-5177-49f7-8b17-e7782996202d	4f11c4f9-f9a5-424a-b0cb-8bf2f444e04a	g.chr2:160050845C>T	ENST00000263635.6	+	17	3057	c.2820C>T	c.(2818-2820)tgC>tgT	p.C940C	TANC1_ENST00000454300.1_Silent_p.C834C	NM_001145909.1|NM_033394.2	NP_001139381.1|NP_203752.2	Q9C0D5	TANC1_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1	940					dendritic spine maintenance (GO:0097062)|myoblast fusion (GO:0007520)|visual learning (GO:0008542)	axon terminus (GO:0043679)|cell junction (GO:0030054)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)				breast(3)|central_nervous_system(4)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(25)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	77						CAATCCTGTGCGTCCAGTCTC	0.552													C|||	1	0.000199681	0	0.0014	5008	,	,		19657	0		0	False		,,,				2504	0					ENST00000263635.6																			0				breast(3)|central_nervous_system(4)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(25)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	77						c.(2818-2820)tgC>tgT		tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1							72	74	74					2																	160050845		2050	4189	6239	SO:0001819	synonymous_variant	85461					cell junction|postsynaptic density|postsynaptic membrane	binding	g.chr2:160050845C>T	AB051515	CCDS42766.1	2q24.2	2013-01-11			ENSG00000115183	ENSG00000115183		"Ankyrin repeat domain containing", "Tetratricopeptide (TTC) repeat domain containing"	29364	protein-coding gene	gene with protein product	"rolling pebbles homolog B (Drosophila)"	611397				15673434	Standard	NM_033394		Approved	KIAA1728, ROLSB	uc002uag.3	Q9C0D5	OTTHUMG00000153945	ENST00000263635.6:c.2820C>T	2.37:g.160050845C>T						TANC1_ENST00000454300.1_Silent_p.C834C	p.C940C	NM_001145909.1|NM_033394.2	NP_001139381.1|NP_203752.2	Q9C0D5	TANC1_HUMAN			17	3057	+			940					C9JD88|Q49AI8	Silent	SNP	ENST00000263635.6	37	c.2820C>T	CCDS42766.1																																																																																				0.552	TANC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333135.1			12	27	0	0	0	1	0	12	27					T	160050845	C	T	160050845	2	4	115	1	0	0	0	0	0	0	0	1	15541	776	27	1		1	TANC1	2	160050845	Silent	SNP	C	TCGA-EJ-A46G-01A-31D-A26M-08	60868633	160050845	83148528	8	6127											
TTN	7273	broad.mit.edu	37	chr2	179399093	179399093	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgttttaatgttctgataacTttagtactgactctttctat	9	21	5	6	0	3	2	0	2	3	0	3	2	3	2	0	0	2	3	0	0	5	9			TCGA-EJ-A46G-01A-31D-A26M-08	TCGA-EJ-A46G-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc5e0ab-5177-49f7-8b17-e7782996202d	4f11c4f9-f9a5-424a-b0cb-8bf2f444e04a	g.chr2:179399093T>C	ENST00000591111.1	-	308	97550	c.97326A>G	c.(97324-97326)aaA>aaG	p.K32442K	TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000587944.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN_ENST00000342992.6_Silent_p.K31515K|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000604571.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000585625.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000589355.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000587568.1_RNA|TTN_ENST00000359218.5_Silent_p.K25143K|TTN-AS1_ENST00000585487.1_RNA|TTN_ENST00000460472.2_Silent_p.K25018K|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN_ENST00000589042.1_Silent_p.K34083K|TTN_ENST00000342175.6_Silent_p.K25210K|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000588804.1_RNA			Q8WZ42	TITIN_HUMAN	titin	32442					adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTCTGATAACTTTAGTACTGA	0.473																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(102247-102249)aaA>aaG		titin							134	128	130					2																	179399093		1908	4133	6041	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179399093T>C	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.97326A>G	2.37:g.179399093T>C						TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000460472.2_Silent_p.K25018K|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000359218.5_Silent_p.K25143K|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Silent_p.K32442K|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN_ENST00000342175.6_Silent_p.K25210K|TTN-AS1_ENST00000588244.1_RNA|TTN_ENST00000342992.6_Silent_p.K31515K|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000591867.1_RNA	p.K34083K	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		358	102473	-			32442			Ig-like 151.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	ENST00000591111.1	37	c.102249A>G																																																																																					0.473	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		21	18	0	0	0	1	0	21	18					C	179399093	T	C	179399093	2	2	115	1	0	0	0	0	0	0	0	1	16732	1606	56	4		4	TTN	2	179399093	Silent	SNP	T	TCGA-EJ-A46G-01A-31D-A26M-08	19348248	179399093	63800280	9	6128											
COL3A1	1281	broad.mit.edu	37	chr2	189859302	189859302	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aatggtgccaaaggagagccCggaccacgtggtgaacgcgt	11	5	15	10	4	0	2	0	1	0	1	0	4	0	3	3	4	3	0	3	4	3	0	rs527291598		TCGA-EJ-A46G-01A-31D-A26M-08	TCGA-EJ-A46G-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc5e0ab-5177-49f7-8b17-e7782996202d	4f11c4f9-f9a5-424a-b0cb-8bf2f444e04a	g.chr2:189859302C>T	ENST00000304636.3	+	19	1499	c.1329C>T	c.(1327-1329)ccC>ccT	p.P443P	COL3A1_ENST00000317840.5_Silent_p.P443P	NM_000090.3	NP_000081	P02461	CO3A1_HUMAN	collagen, type III, alpha 1	443	Triple-helical region.				aging (GO:0007568)|axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell-matrix adhesion (GO:0007160)|cellular response to amino acid stimulus (GO:0071230)|cerebral cortex development (GO:0021987)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|digestive tract development (GO:0048565)|extracellular fibril organization (GO:0043206)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|integrin-mediated signaling pathway (GO:0007229)|negative regulation of immune response (GO:0050777)|negative regulation of neuron migration (GO:2001223)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|positive regulation of Rho protein signal transduction (GO:0035025)|response to cytokine (GO:0034097)|response to mechanical stimulus (GO:0009612)|response to radiation (GO:0009314)|skeletal system development (GO:0001501)|skin development (GO:0043588)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	collagen type III trimer (GO:0005586)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	extracellular matrix structural constituent (GO:0005201)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)			NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)	AAGGAGAGCCCGGACCACGTG	0.398													C|||	1	0.000199681	0	0	5008	,	,		18051	0		0	False		,,,				2504	0.001					ENST00000304636.3																			0				NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126						c.(1327-1329)ccC>ccT		collagen, type III, alpha 1	Collagenase(DB00048)|Palifermin(DB00039)						105	103	104					2																	189859302		2203	4300	6503	SO:0001819	synonymous_variant	1281				axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding	g.chr2:189859302C>T	X15332	CCDS2297.1	2q32.2	2014-09-17	2008-06-23		ENSG00000168542	ENSG00000168542		"Collagens"	2201	protein-coding gene	gene with protein product		120180	"Ehlers-Danlos syndrome type IV, autosomal dominant"	EDS4A		2780304, 2834369	Standard	NM_000090		Approved		uc002uqj.1	P02461	OTTHUMG00000132648	ENST00000304636.3:c.1329C>T	2.37:g.189859302C>T						COL3A1_ENST00000317840.5_Silent_p.P443P	p.P443P	NM_000090.3	NP_000081.1	P02461	CO3A1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		19	1499	+			443			Triple-helical region.		D2JYH5|D3DPH4|P78429|Q15112|Q16403|Q53S91|Q541P8|Q6LDB3|Q6LDJ2|Q6LDJ3|Q7KZ56|Q8N6U4|Q9UC88|Q9UC89|Q9UC90|Q9UC91|R4N3C5|V9GZI1	Silent	SNP	ENST00000304636.3	37	c.1329C>T	CCDS2297.1																																																																																				0.398	COL3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255899.3	NM_000090		10	42	0	0	0	1	0	10	42					T	189859302	C	T	189859302	2	4	115	1	0	0	0	0	0	0	0	1	3688	639	23	2		2	COL3A1	2	189859302	Silent	SNP	C	TCGA-EJ-A46G-01A-31D-A26M-08	10460209	189859302	53340071	10	6129											
IRS1	3667	broad.mit.edu	37	chr2	227662463	227662463	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggacatggtgccttcgccgTcactggaggcgcggacacgg	6	6	17	12	5	1	0	1	0	0	0	2	3	1	3	2	6	1	0	2	6	0	1			TCGA-EJ-A46G-01A-31D-A26M-08	TCGA-EJ-A46G-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc5e0ab-5177-49f7-8b17-e7782996202d	4f11c4f9-f9a5-424a-b0cb-8bf2f444e04a	g.chr2:227662463T>A	ENST00000305123.5	-	1	2012	c.992A>T	c.(991-993)gAc>gTc	p.D331V	IRS1_ENST00000498335.1_5'Flank|RP11-395N3.2_ENST00000607970.1_lincRNA	NM_005544.2	NP_005535.1	P35568	IRS1_HUMAN	insulin receptor substrate 1	331	Ser-rich.				cellular response to insulin stimulus (GO:0032869)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose homeostasis (GO:0042593)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lipid catabolic process (GO:0016042)|mammary gland development (GO:0030879)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of insulin secretion (GO:0046676)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fatty acid beta-oxidation (GO:0032000)|positive regulation of glucose import (GO:0046326)|positive regulation of glucose import in response to insulin stimulus (GO:2001275)|positive regulation of glucose metabolic process (GO:0010907)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of insulin receptor signaling pathway (GO:0046628)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|protein kinase B signaling (GO:0043491)|protein localization to nucleus (GO:0034504)|regulation of gene expression (GO:0010468)|response to insulin (GO:0032868)|response to peptide hormone (GO:0043434)|signal transduction (GO:0007165)	caveola (GO:0005901)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|insulin receptor complex (GO:0005899)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	insulin receptor binding (GO:0005158)|insulin-like growth factor receptor binding (GO:0005159)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein kinase C binding (GO:0005080)|SH2 domain binding (GO:0042169)|signal transducer activity (GO:0004871)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(10)|lung(33)|ovary(6)|pancreas(1)|prostate(1)|urinary_tract(2)	69		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)		GCCTTCGCCGTCACTGGAGGC	0.716											OREG0015248	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000305123.4																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(10)|lung(33)|ovary(6)|pancreas(1)|prostate(1)|urinary_tract(2)	69						c.(991-993)gAc>gTc		insulin receptor substrate 1							51	55	54					2																	227662463		2198	4296	6494	SO:0001583	missense	3667				fibroblast growth factor receptor signaling pathway|glucose homeostasis|insulin receptor signaling pathway|negative regulation of insulin receptor signaling pathway|negative regulation of insulin secretion|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity	caveola|cytosol|insulin receptor complex|microsome|nucleus	insulin receptor binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase binding|protein kinase C binding|SH2 domain binding|transmembrane receptor protein tyrosine kinase adaptor activity	g.chr2:227662463T>A		CCDS2463.1	2q36	2013-01-10			ENSG00000169047	ENSG00000169047		"Pleckstrin homology (PH) domain containing"	6125	protein-coding gene	gene with protein product		147545				1648180	Standard	NM_005544		Approved	HIRS-1	uc002voh.4	P35568	OTTHUMG00000133179	ENST00000305123.5:c.992A>T	2.37:g.227662463T>A	ENSP00000304895:p.Asp331Val		OREG0015248	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	2321		p.D331V	NM_005544.2	NP_005535.1	P35568	IRS1_HUMAN		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)	1	2012	-		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)	331			Ser-rich.			Missense_Mutation	SNP	ENST00000305123.5	37	c.992A>T	CCDS2463.1	.	.	.	.	.	.	.	.	.	.	T	20.8	4.050194	0.75846	.	.	ENSG00000169047	ENST00000305123	T	0.60424	0.19	5.66	5.66	0.87406	.	0.000000	0.64402	D	0.000001	T	0.67702	0.2921	L	0.40543	1.245	0.80722	D	1	D	0.76494	0.999	D	0.66196	0.942	T	0.70382	-0.4887	10	0.66056	D	0.02	-25.527	15.8851	0.79241	0.0:0.0:0.0:1.0	.	331	P35568	IRS1_HUMAN	V	331	ENSP00000304895:D331V	ENSP00000304895:D331V	D	-	2	0	IRS1	227370707	1.000000	0.71417	0.998000	0.56505	0.918000	0.54935	8.040000	0.89188	2.154000	0.67381	0.379000	0.24179	GAC		0.716	IRS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256886.3	NM_005544		28	162	0	0	0	1	0	28	162					A	227662463	T	A	227662463	3	1	115	1	0	0	0	0	1	0	0	0	7840	1667	58	5	2740	5	IRS1	2	227662463	Missense_Mutation	SNP	T	TCGA-EJ-A46G-01A-31D-A26M-08	37803161	227662463	15536910	11	6130											
VHL	7428	broad.mit.edu	37	chr3	10191575	10191575	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgctctacgaagatctggaaGaccacccaaatgtgcagaaa	15	6	9	11	2	2	3	0	0	2	3	2	5	2	4	2	1	2	2	2	1	5	1			TCGA-EJ-A46G-01A-31D-A26M-08	TCGA-EJ-A46G-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc5e0ab-5177-49f7-8b17-e7782996202d	4f11c4f9-f9a5-424a-b0cb-8bf2f444e04a	g.chr3:10191575G>T	ENST00000256474.2	+	3	1408	c.568G>T	c.(568-570)Gac>Tac	p.D190Y	VHL_ENST00000477538.1_3'UTR|VHL_ENST00000345392.2_Missense_Mutation_p.D149Y	NM_000551.3	NP_000542.1	P40337	VHL_HUMAN	von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase	190					cell morphogenesis (GO:0000902)|cellular response to hypoxia (GO:0071456)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061428)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|transcription factor binding (GO:0008134)|ubiquitin protein ligase activity (GO:0061630)|ubiquitin-protein transferase activity (GO:0004842)	p.E189fs*12(2)|p.D190fs*12(1)|p.D187_N193del(1)|p.D190fs*>25(1)|p.Y185fs*11(1)		adrenal_gland(25)|autonomic_ganglia(3)|central_nervous_system(2)|endometrium(6)|kidney(1662)|large_intestine(14)|lung(6)|pancreas(18)|paratesticular_tissues(1)|pleura(1)|skin(1)|soft_tissue(24)|thyroid(3)|upper_aerodigestive_tract(3)	1769				Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569)		AGATCTGGAAGACCACCCAAA	0.502		1	"D, Mis, N, F, S"		"renal, hemangioma, pheochromocytoma"	"renal, hemangioma, pheochromocytoma"			von Hippel-Lindau disease;Pheochromocytoma (Adrenal), Familial;Chuvash Polycythemia																													ENST00000256474.2		1	yes	Rec	yes	von Hippel-Lindau syndrome	3	3p25	7428	"D, Mis, N, F, S"	von Hippel-Lindau syndrome gene			"E, M, O"		"renal, hemangioma, pheochromocytoma"	"renal, hemangioma, pheochromocytoma"		6	Deletion - Frameshift(4)|Deletion - In frame(1)|Insertion - Frameshift(1)	p.E189fs*12(2)|p.D190fs*12(1)|p.D187_N193del(1)|p.D190fs*>25(1)|p.Y185fs*11(1)	kidney(6)	adrenal_gland(25)|autonomic_ganglia(3)|central_nervous_system(2)|endometrium(6)|kidney(1662)|large_intestine(14)|lung(6)|pancreas(18)|paratesticular_tissues(1)|pleura(1)|skin(1)|soft_tissue(24)|thyroid(3)|upper_aerodigestive_tract(3)	1769						c.(568-570)Gac>Tac		von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase							77	69	72					3																	10191575		2203	4300	6503	SO:0001583	missense	7428	von Hippel-Lindau disease;Pheochromocytoma (Adrenal), Familial;Chuvash Polycythemia	Familial Cancer Database	VHL; ;Erythrocytosis, Familial type 2	anti-apoptosis|cell morphogenesis|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of cell differentiation|positive regulation of transcription, DNA-dependent|protein stabilization|protein ubiquitination|proteolysis	cytosol|endoplasmic reticulum|membrane|mitochondrion|nucleus	protein binding|transcription factor binding	g.chr3:10191575G>T	L15409	CCDS2597.1, CCDS2598.1	3p25.3	2014-09-17	2012-02-23		ENSG00000134086	ENSG00000134086			12687	protein-coding gene	gene with protein product		608537	"von Hippel-Lindau syndrome", "von Hippel-Lindau tumor suppressor"			9671762	Standard	NM_000551		Approved	VHL1	uc003bvc.3	P40337	OTTHUMG00000128668	ENST00000256474.2:c.568G>T	3.37:g.10191575G>T	ENSP00000256474:p.Asp190Tyr					VHL_ENST00000345392.2_Missense_Mutation_p.D149Y|VHL_ENST00000477538.1_3'UTR	p.D190Y	NM_000551.3	NP_000542.1	P40337	VHL_HUMAN		Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569)	3	1408	+			190					B2RE45|Q13599|Q6PDA9	Missense_Mutation	SNP	ENST00000256474.2	37	c.568G>T	CCDS2597.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.075899	0.76415	.	.	ENSG00000134086	ENST00000256474;ENST00000345392;ENST00000450183	D;D	0.99841	-7.09;-7.09	4.97	4.97	0.65823	von Hippel-Lindau disease tumour suppressor, beta/alpha domain (2);von Hippel-Lindau disease tumor suppressor, alpha domain (1);	0.166081	0.52532	D	0.000070	D	0.99569	0.9845	L	0.47716	1.5	0.40277	D	0.978354	D;D	0.89917	1.0;1.0	D;D	0.76071	0.987;0.984	D	0.97021	0.9743	10	0.87932	D	0	-6.0807	9.4808	0.38900	0.0939:0.0:0.9061:0.0	.	149;190	P40337-2;P40337	.;VHL_HUMAN	Y	190;149;108	ENSP00000256474:D190Y;ENSP00000344757:D149Y	ENSP00000256474:D190Y	D	+	1	0	VHL	10166575	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.425000	0.52771	2.735000	0.93741	0.655000	0.94253	GAC		0.502	VHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250559.1	NM_000551		7	17	1	0	5.18039e-06	1	5.9385e-06	7	17					T	10191575	G	T	10191575	3	4	115	1	0	0	0	0	1	0	0	0	17159	942	33	5	578	5	VHL	3	10191575	Missense_Mutation	SNP	G	TCGA-EJ-A46G-01A-31D-A26M-08		10191575	187830855	12	6131											
NUP210	23225	broad.mit.edu	37	chr3	13393391	13393391	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	aagcttaccatggcgacaccCctggcctcctggtaggccac	8	7	10	16	1	0	0	0	0	0	0	1	1	1	0	6	4	2	2	6	4	3	2			TCGA-EJ-A46G-01A-31D-A26M-08	TCGA-EJ-A46G-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc5e0ab-5177-49f7-8b17-e7782996202d	4f11c4f9-f9a5-424a-b0cb-8bf2f444e04a	g.chr3:13393391C>T	ENST00000254508.5	-	20	2905	c.2823G>A	c.(2821-2823)agG>agA	p.R941R		NM_024923.2	NP_079199.2	Q8TEM1	PO210_HUMAN	nucleoporin 210kDa	941					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)				NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	66	all_neural(104;0.187)					TGGCGACACCCCTGGCCTCCT	0.532																																						ENST00000254508.5																			0				NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	66						c.(2821-2823)agG>agA		nucleoporin 210kDa							113	89	97					3																	13393391		2203	4300	6503	SO:0001819	synonymous_variant	23225				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore		g.chr3:13393391C>T	AB020713	CCDS33704.1	3p25	2008-02-05			ENSG00000132182	ENSG00000132182			30052	protein-coding gene	gene with protein product		607703				2184032, 7504063	Standard	NM_024923		Approved	GP210, POM210, FLJ22389, KIAA0906	uc003bxv.1	Q8TEM1	OTTHUMG00000157268	ENST00000254508.5:c.2823G>A	3.37:g.13393391C>T							p.R941R	NM_024923.2	NP_079199.2	Q8TEM1	PO210_HUMAN			20	2905	-	all_neural(104;0.187)		941					A6NN56|O94980|Q6NXG6|Q8NBJ1|Q9H6C8|Q9UFP3	Silent	SNP	ENST00000254508.5	37	c.2823G>A	CCDS33704.1																																																																																				0.532	NUP210-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340085.1	NM_024923		4	56	0	0	0	1	0	4	56					T	13393391	C	T	13393391	2	4	115	1	0	0	0	0	0	0	0	1	10760	622	22	3		3	NUP210	3	13393391	Silent	SNP	C	TCGA-EJ-A46G-01A-31D-A26M-08	3201816	13393391	184629039	13	6132											
SCAP	22937	broad.mit.edu	37	chr3	47455419	47455419	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aagttgcagacaatggcagcGttgtccagcaccaggatctg	11	8	12	10	1	1	1	0	0	1	1	2	2	2	2	2	2	3	5	2	2	2	2	rs112830289	byFrequency	TCGA-EJ-A46G-01A-31D-A26M-08	TCGA-EJ-A46G-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc5e0ab-5177-49f7-8b17-e7782996202d	4f11c4f9-f9a5-424a-b0cb-8bf2f444e04a	g.chr3:47455419G>A	ENST00000265565.5	-	23	4177	c.3765C>T	c.(3763-3765)aaC>aaT	p.N1255N	SCAP_ENST00000441517.2_Silent_p.N999N|SCAP_ENST00000545718.1_Silent_p.N862N	NM_012235.2	NP_036367.2	Q12770	SCAP_HUMAN	SREBF chaperone	1255	Interaction with SREBF2. {ECO:0000250}.				aging (GO:0007568)|cholesterol metabolic process (GO:0008203)|negative regulation of cholesterol biosynthetic process (GO:0045541)|positive regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045716)|regulation of fatty acid biosynthetic process (GO:0042304)|response to hypoxia (GO:0001666)|response to insulin (GO:0032868)|small molecule metabolic process (GO:0044281)|SREBP signaling pathway (GO:0032933)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|protein complex (GO:0043234)	unfolded protein binding (GO:0051082)			endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	26				BRCA - Breast invasive adenocarcinoma(193;0.000278)|KIRC - Kidney renal clear cell carcinoma(197;0.00592)|Kidney(197;0.00679)		CAATGGCAGCGTTGTCCAGCA	0.592													g|||	13	0.00259585	0	0	5008	,	,		19360	0		0.0129	False		,,,				2504	0				Pancreas(149;978 1908 29304 37806 46700)	ENST00000265565.5																			0				endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	26						c.(3763-3765)aaC>aaT		SREBF chaperone		A		2,4404	4.2+/-10.8	0,2,2201	154	155	155		3765	-4.6	0.8	3	dbSNP_132	155	37,8563	25.1+/-72.6	0,37,4263	no	coding-synonymous	SCAP	NM_012235.2		0,39,6464	AA,AG,GG		0.4302,0.0454,0.2999		1255/1280	47455419	39,12967	2203	4300	6503	SO:0001819	synonymous_variant	22937				cholesterol metabolic process|negative regulation of cholesterol biosynthetic process|positive regulation of low-density lipoprotein particle receptor biosynthetic process|positive regulation of transcription via sterol regulatory element binding involved in ER-nuclear sterol response pathway	endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Golgi membrane|integral to membrane	unfolded protein binding	g.chr3:47455419G>A	BC020987	CCDS2755.2	3p21.31	2013-01-10			ENSG00000114650	ENSG00000114650		"WD repeat domain containing"	30634	protein-coding gene	gene with protein product	"SREBP cleavage activating protein"	601510				8898195, 8724849, 10570913	Standard	XM_005264967		Approved	KIAA0199	uc003crh.1	Q12770	OTTHUMG00000125539	ENST00000265565.5:c.3765C>T	3.37:g.47455419G>A						SCAP_ENST00000441517.2_Silent_p.N999N|SCAP_ENST00000545718.1_Silent_p.N862N	p.N1255N	NM_012235.2	NP_036367.2	Q12770	SCAP_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000278)|KIRC - Kidney renal clear cell carcinoma(197;0.00592)|Kidney(197;0.00679)	23	4177	-			1255			Interaction with SREBF2 (By similarity).		Q8N2E0|Q8WUA1	Silent	SNP	ENST00000265565.5	37	c.3765C>T	CCDS2755.2																																																																																				0.592	SCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246872.2	NM_012235		7	211	0	0	0	1	0	7	211					A	47455419	G	A	47455419	2	1	115	1	0	0	0	0	0	0	0	1	13877	1136	40	1		1	SCAP	3	47455419	Silent	SNP	G	TCGA-EJ-A46G-01A-31D-A26M-08	34062028	47455419	150567011	14	6133											
TRAIP	10293	broad.mit.edu	37	chr3	49881269	49881269	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cagcatctcggccttgcccaAggcctgctgcagagatacca	9	7	10	15	1	1	1	0	0	1	1	2	2	1	1	4	2	5	3	4	2	2	2			TCGA-EJ-A46G-01A-31D-A26M-08	TCGA-EJ-A46G-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc5e0ab-5177-49f7-8b17-e7782996202d	4f11c4f9-f9a5-424a-b0cb-8bf2f444e04a	g.chr3:49881269A>T	ENST00000331456.2	-	5	486	c.373T>A	c.(373-375)Ttg>Atg	p.L125M	TRAIP_ENST00000473863.1_5'Flank|TRAIP_ENST00000469027.1_Intron	NM_005879.2	NP_005870.2	Q9BWF2	TRAIP_HUMAN	TRAF interacting protein	125					apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|receptor signaling protein activity (GO:0005057)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24				BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		GCCTTGCCCAAGGCCTGCTGC	0.537																																						ENST00000331456.2																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24						c.(373-375)Ttg>Atg		TRAF interacting protein							202	163	177					3																	49881269		2203	4300	6503	SO:0001583	missense	10293				cell proliferation|induction of apoptosis	perinuclear region of cytoplasm	protein binding|zinc ion binding	g.chr3:49881269A>T	BC019283	CCDS2806.1	3p21.31	2013-01-09			ENSG00000183763	ENSG00000183763		"RING-type (C3HC4) zinc fingers"	30764	protein-coding gene	gene with protein product	"ring finger protein 206"	605958				9104814	Standard	NM_005879		Approved	TRIP, RNF206	uc003cxs.1	Q9BWF2	OTTHUMG00000158269	ENST00000331456.2:c.373T>A	3.37:g.49881269A>T	ENSP00000328203:p.Leu125Met					TRAIP_ENST00000469027.1_Intron	p.L125M	NM_005879.2	NP_005870.2	Q9BWF2	TRAIP_HUMAN		BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)	5	486	-			125					B5BU84|B5BUL3|O00467	Missense_Mutation	SNP	ENST00000331456.2	37	c.373T>A	CCDS2806.1	.	.	.	.	.	.	.	.	.	.	A	18.76	3.693569	0.68386	.	.	ENSG00000183763	ENST00000331456;ENST00000482582;ENST00000482243	T;T	0.80909	-1.43;-1.43	5.28	0.145	0.14829	Prefoldin (1);	0.219434	0.41396	D	0.000894	D	0.85057	0.5610	M	0.66939	2.045	0.53688	D	0.999976	D;D;D	0.89917	0.997;1.0;0.999	D;D;D	0.87578	0.938;0.998;0.973	T	0.81844	-0.0746	10	0.56958	D	0.05	-4.1233	7.6176	0.28167	0.4298:0.0:0.5702:0.0	.	125;125;125	B4DIU1;A8K807;Q9BWF2	.;.;TRAIP_HUMAN	M	125;109;127	ENSP00000328203:L125M;ENSP00000418544:L109M	ENSP00000328203:L125M	L	-	1	2	TRAIP	49856273	1.000000	0.71417	0.313000	0.25210	0.956000	0.61745	2.201000	0.42734	0.039000	0.15632	-0.375000	0.07067	TTG		0.537	TRAIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350518.1	NM_005879		30	64	0	0	0	1	0	30	64					T	49881269	A	T	49881269	3	4	115	1	0	0	0	0	1	0	0	0	16445	69	3	5	1080	5	TRAIP	3	49881269	Missense_Mutation	SNP	A	TCGA-EJ-A46G-01A-31D-A26M-08	2425850	49881269	148141161	15	6134											
IFT122	55764	broad.mit.edu	37	chr3	129168739	129168739	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgacatcgcatttaagcctGatggaactcaactgattttg	12	13	8	8	1	1	3	1	3	0	0	2	4	1	4	1	1	3	1	1	1	3	4			TCGA-EJ-A46G-01A-31D-A26M-08	TCGA-EJ-A46G-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc5e0ab-5177-49f7-8b17-e7782996202d	4f11c4f9-f9a5-424a-b0cb-8bf2f444e04a	g.chr3:129168739G>T	ENST00000348417.2	+	2	144	c.67G>T	c.(67-69)Gat>Tat	p.D23Y	IFT122_ENST00000349441.2_Missense_Mutation_p.D23Y|IFT122_ENST00000440957.2_5'UTR|IFT122_ENST00000296266.3_Missense_Mutation_p.D23Y|IFT122_ENST00000507564.1_Missense_Mutation_p.D23Y|IFT122_ENST00000347300.2_Missense_Mutation_p.D23Y|IFT122_ENST00000504021.1_Missense_Mutation_p.D23Y|IFT122_ENST00000431818.2_5'UTR	NM_052989.1	NP_443715.1	Q9HBG6	IF122_HUMAN	intraflagellar transport 122	23					camera-type eye morphogenesis (GO:0048593)|ciliary receptor clustering involved in smoothened signaling pathway (GO:0060830)|cilium morphogenesis (GO:0060271)|embryonic body morphogenesis (GO:0010172)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|embryonic heart tube development (GO:0035050)|embryonic heart tube left/right pattern formation (GO:0060971)|establishment of protein localization to organelle (GO:0072594)|intraciliary anterograde transport (GO:0035720)|intraciliary retrograde transport (GO:0035721)|limb development (GO:0060173)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of smoothened signaling pathway involved in ventral spinal cord patterning (GO:0021914)|neural tube closure (GO:0001843)|protein localization to cilium (GO:0061512)|signal transduction downstream of smoothened (GO:0007227)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)	ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|intraciliary transport particle A (GO:0030991)|membrane (GO:0016020)|photoreceptor connecting cilium (GO:0032391)|primary cilium (GO:0072372)				breast(3)|cervix(1)|endometrium(9)|large_intestine(10)|lung(21)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	52						ATTTAAGCCTGATGGAACTCA	0.408																																						ENST00000296266.3																			0				breast(3)|cervix(1)|endometrium(9)|large_intestine(10)|lung(21)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	52						c.(67-69)Gat>Tat		intraflagellar transport 122 homolog (Chlamydomonas)							199	190	193					3																	129168739		2203	4300	6503	SO:0001583	missense	55764				camera-type eye morphogenesis|cilium morphogenesis|embryonic body morphogenesis|embryonic heart tube development|limb development|neural tube closure	microtubule basal body|photoreceptor connecting cilium		g.chr3:129168739G>T	AF244930	CCDS3059.1, CCDS3060.1, CCDS3061.1, CCDS3062.1, CCDS63770.1, CCDS63772.1, CCDS63773.1	3q21	2014-07-03	2014-07-03	2005-11-02	ENSG00000163913	ENSG00000163913		"WD repeat domain containing", "Intraflagellar transport homologs"	13556	protein-coding gene	gene with protein product		606045	"WD repeat domain 10", "intraflagellar transport 122 homolog (Chlamydomonas)"	WDR10		11242542	Standard	NM_052985		Approved	WDR140, WDR10p, SPG	uc003emm.3	Q9HBG6	OTTHUMG00000159516	ENST00000348417.2:c.67G>T	3.37:g.129168739G>T	ENSP00000324005:p.Asp23Tyr					IFT122_ENST00000504021.1_Missense_Mutation_p.D23Y|IFT122_ENST00000440957.2_5'UTR|IFT122_ENST00000431818.2_5'UTR|IFT122_ENST00000507564.1_Missense_Mutation_p.D23Y|IFT122_ENST00000349441.2_Missense_Mutation_p.D23Y|IFT122_ENST00000348417.2_Missense_Mutation_p.D23Y|IFT122_ENST00000347300.2_Missense_Mutation_p.D23Y	p.D23Y	NM_052985.2	NP_443711.2	Q9HBG6	IF122_HUMAN			2	259	+			23					B3KW53|B4DEY9|B4DPW7|E7EQF4|E9PDG2|E9PDX2|G3XAB1|H7C3C0|Q53G36|Q8TC06|Q9BTB9|Q9BTY4|Q9HAT9|Q9HBG5|Q9NV68|Q9UF80	Missense_Mutation	SNP	ENST00000348417.2	37	c.67G>T	CCDS3061.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	22.6|22.6	4.313695|4.313695	0.81358|0.81358	.|.	.|.	ENSG00000163913|ENSG00000163913	ENST00000347300;ENST00000296266;ENST00000507564;ENST00000454840;ENST00000504021;ENST00000349441;ENST00000348417;ENST00000446384|ENST00000514275;ENST00000508826;ENST00000512157;ENST00000515783	T;T;T;T;T;T|.	0.71934|.	-0.61;1.13;1.13;1.07;1.07;-0.61|.	5.71|5.71	5.71|5.71	0.89125|0.89125	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|.	0.82903|.	0.5138|.	M|M	0.85197|0.85197	2.74|2.74	0.80722|0.80722	D|D	1|1	D;D;D;D;D;D|.	0.89917|.	1.0;1.0;1.0;1.0;1.0;1.0|.	D;D;D;D;D;D|.	0.91635|.	0.996;0.995;0.996;0.998;0.997;0.999|.	D|.	0.83935|.	0.0308|.	10|.	0.87932|.	D|.	0|.	-19.0305|-19.0305	18.6261|18.6261	0.91340|0.91340	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	23;23;23;23;23;23|.	E7EQF4;B4DPW7;Q9BTY4;Q9HBG6-3;Q9HBG6;G3XAB1|.	.;.;.;.;IF122_HUMAN;.|.	Y|L	23|9	ENSP00000323973:D23Y;ENSP00000296266:D23Y;ENSP00000425536:D23Y;ENSP00000422179:D23Y;ENSP00000324165:D23Y;ENSP00000324005:D23Y|.	ENSP00000296266:D23Y|.	D|X	+|+	1|2	0|2	IFT122|IFT122	130651429|130651429	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.995000|0.995000	0.86356|0.86356	6.650000|6.650000	0.74368|0.74368	2.697000|2.697000	0.92050|0.92050	0.655000|0.655000	0.94253|0.94253	GAT|TGA		0.408	IFT122-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000355852.1	NM_018262		5	75	1	0	0.00116845	1	0.00126246	5	75					T	129168739	G	T	129168739	3	4	115	1	0	0	0	0	1	0	0	0	7555	1290	45	5	73	5	IFT122	3	129168739	Missense_Mutation	SNP	G	TCGA-EJ-A46G-01A-31D-A26M-08	79287470	129168739	68853691	16	6135											
COL6A6	131873	broad.mit.edu	37	chr3	130284217	130284217	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caccgagattcagaagacaaCgtgacaaaagcagctgttaa	17	6	9	9	2	1	4	1	1	0	3	1	5	1	4	1	0	3	3	1	0	5	2	rs372078727		TCGA-EJ-A46G-01A-31D-A26M-08	TCGA-EJ-A46G-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc5e0ab-5177-49f7-8b17-e7782996202d	4f11c4f9-f9a5-424a-b0cb-8bf2f444e04a	g.chr3:130284217C>T	ENST00000358511.6	+	3	1072	c.1041C>T	c.(1039-1041)aaC>aaT	p.N347N	COL6A6_ENST00000453409.2_Silent_p.N347N	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	347	Nonhelical region.|VWFA 2. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						CAGAAGACAACGTGACAAAAG	0.557													c|||	1	0.000199681	0	0	5008	,	,		18682	0		0	False		,,,				2504	0.001					ENST00000358511.6																			0				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						c.(1039-1041)aaC>aaT		collagen, type VI, alpha 6		T		1,3971		0,1,1985	173	182	179		1041	-2.7	0.3	3		179	0,8328		0,0,4164	no	coding-synonymous	COL6A6	NM_001102608.1		0,1,6149	TT,TC,CC		0.0,0.0252,0.0081		347/2264	130284217	1,12299	1986	4164	6150	SO:0001819	synonymous_variant	131873				axon guidance|cell adhesion	collagen		g.chr3:130284217C>T	AL713792	CCDS46911.1	3q22.1	2013-01-16			ENSG00000206384	ENSG00000206384		"Collagens"	27023	protein-coding gene	gene with protein product							Standard	NM_001102608		Approved		uc010htl.3	A6NMZ7	OTTHUMG00000159653	ENST00000358511.6:c.1041C>T	3.37:g.130284217C>T						COL6A6_ENST00000453409.2_Silent_p.N347N	p.N347N	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN			3	1072	+			347			Nonhelical region.|VWFA 2.		A7DZQ0|A7DZQ1|A7DZQ2|Q69YT0	Silent	SNP	ENST00000358511.6	37	c.1041C>T	CCDS46911.1																																																																																				0.557	COL6A6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356705.5	NM_001102608		14	165	0	0	0	1	0	14	165					T	130284217	C	T	130284217	2	4	115	1	0	0	0	0	0	0	0	1	3703	535	19	1		1	COL6A6	3	130284217	Silent	SNP	C	TCGA-EJ-A46G-01A-31D-A26M-08	1115478	130284217	67738213	17	6136											
MSL2	55167	broad.mit.edu	37	chr3	135913890	135913890	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtaaacgccttggggtctccGgggtcgtagttgagcactag	7	10	15	9	3	1	1	0	1	1	0	3	1	1	1	2	4	2	4	2	4	4	5			TCGA-EJ-A46G-01A-31D-A26M-08	TCGA-EJ-A46G-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc5e0ab-5177-49f7-8b17-e7782996202d	4f11c4f9-f9a5-424a-b0cb-8bf2f444e04a	g.chr3:135913890G>T	ENST00000309993.2	-	1	798	c.66C>A	c.(64-66)ccC>ccA	p.P22P	MSL2_ENST00000434835.2_5'Flank	NM_018133.3	NP_060603.2	Q9HCI7	MSL2_HUMAN	male-specific lethal 2 homolog (Drosophila)	22	Sufficient for interaction with MSL1.				chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)	MSL complex (GO:0072487)|nucleoplasm (GO:0005654)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	18						TGGGGTCTCCGGGGTCGTAGT	0.527																																						ENST00000309993.2																			0				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	18						c.(64-66)ccC>ccA		male-specific lethal 2 homolog (Drosophila)							182	195	191					3																	135913890		2203	4300	6503	SO:0001819	synonymous_variant	55167				histone H4-K16 acetylation	MSL complex	zinc ion binding	g.chr3:135913890G>T	AK001408	CCDS33861.1, CCDS46922.1	3q22.2	2008-10-29	2008-10-29	2008-10-29	ENSG00000174579	ENSG00000174579		"RING-type (C3HC4) zinc fingers"	25544	protein-coding gene	gene with protein product	"male-specific lethal-2 homolog (Drosophila)"	614802	"ring finger protein 184", "male-specific lethal 2-like 1 (Drosophila)"	RNF184, MSL2L1		16227571, 16543150	Standard	NM_018133		Approved	FLJ10546, KIAA1585, msl-2	uc003eqx.1	Q9HCI7	OTTHUMG00000159793	ENST00000309993.2:c.66C>A	3.37:g.135913890G>T							p.P22P	NM_018133.3	NP_060603.2	Q9HCI7	MSL2_HUMAN			1	798	-			22					B4DYL4|G5E9I1|Q0D2P1|Q8NDB4|Q9NVS4	Silent	SNP	ENST00000309993.2	37	c.66C>A	CCDS33861.1																																																																																				0.527	MSL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357347.1	NM_018133		70	131	1	0	2.10328e-26	1	2.63612e-26	70	131					T	135913890	G	T	135913890	2	4	115	1	0	0	0	0	0	0	0	1	9878	1103	39	5		5	MSL2	3	135913890	Silent	SNP	G	TCGA-EJ-A46G-01A-31D-A26M-08	5629673	135913890	62108540	18	6137											
LEKR1	389170	broad.mit.edu	37	chr3	156746095	156746095	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aatgattcagtttcagaaaaCttgaggaaggaaatggaaca	18	9	10	4	0	2	3	2	2	0	1	2	6	2	6	0	3	2	1	0	3	6	3			TCGA-EJ-A46G-01A-31D-A26M-08	TCGA-EJ-A46G-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc5e0ab-5177-49f7-8b17-e7782996202d	4f11c4f9-f9a5-424a-b0cb-8bf2f444e04a	g.chr3:156746095C>G	ENST00000470811.1	+	13	1995	c.660C>G	c.(658-660)aaC>aaG	p.N220K	LEKR1_ENST00000356539.4_Missense_Mutation_p.N524K			Q6ZMV7	LEKR1_HUMAN	leucine, glutamate and lysine rich 1	220										breast(1)|large_intestine(5)|lung(3)|ovary(1)|skin(1)	11			LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)			TTTCAGAAAACTTGAGGAAGG	0.358																																						ENST00000470811.1																			0				breast(1)|large_intestine(5)|lung(3)|ovary(1)|skin(1)	11						c.(658-660)aaC>aaG		leucine, glutamate and lysine rich 1							53	55	54					3																	156746095		2203	4300	6503	SO:0001583	missense	389170							g.chr3:156746095C>G	AK131473	CCDS54660.1	3q25.31	2014-02-12	2008-02-21		ENSG00000197980	ENSG00000197980			33765	protein-coding gene	gene with protein product		613536					Standard	NM_001004316		Approved	FLJ16641	uc021xgh.1	Q6ZMV7	OTTHUMG00000160130	ENST00000470811.1:c.660C>G	3.37:g.156746095C>G	ENSP00000418214:p.Asn220Lys					LEKR1_ENST00000356539.4_Missense_Mutation_p.N524K	p.N220K			D3DNK7	D3DNK7_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)		13	1995	+			105						Missense_Mutation	SNP	ENST00000470811.1	37	c.660C>G		.	.	.	.	.	.	.	.	.	.	C	11.40	1.628012	0.28978	.	.	ENSG00000178110	ENST00000470811;ENST00000356539	T;T	0.39787	1.06;1.06	5.33	1.94	0.25998	.	0.299759	0.28659	N	0.014580	T	0.18551	0.0445	N	0.14661	0.345	0.21579	N	0.999638	B	0.15473	0.013	B	0.19391	0.025	T	0.15407	-1.0438	10	0.11485	T	0.65	-5.3586	2.8853	0.05659	0.0:0.3662:0.2582:0.3756	.	220	Q6ZMV7	LEKR1_HUMAN	K	220;524	ENSP00000418214:N220K;ENSP00000348936:N524K	ENSP00000348936:N524K	N	+	3	2	LEKR1	158228789	0.143000	0.22626	0.853000	0.33588	0.995000	0.86356	0.041000	0.13927	0.550000	0.28991	0.655000	0.94253	AAC		0.358	LEKR1-010	KNOWN	upstream_ATG|basic	protein_coding	protein_coding	OTTHUMT00000351625.3	NM_001004316		11	13	0	0	0	1	0	11	13					G	156746095	C	G	156746095	3	3	115	1	0	0	0	0	1	0	0	0	8717	564	20	5	1614	5	LEKR1	3	156746095	Missense_Mutation	SNP	C	TCGA-EJ-A46G-01A-31D-A26M-08	20832205	156746095	41276335	19	6138											
LRRC15	131578	broad.mit.edu	37	chr3	194081183	194081183	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gccggaggacctggaggttgCccaggtgctggaagaccctg	7	6	17	11	1	0	1	0	0	0	1	0	5	0	5	4	6	2	2	4	6	1	1			TCGA-EJ-A46G-01A-31D-A26M-08	TCGA-EJ-A46G-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc5e0ab-5177-49f7-8b17-e7782996202d	4f11c4f9-f9a5-424a-b0cb-8bf2f444e04a	g.chr3:194081183C>T	ENST00000347624.3	-	2	675	c.590G>A	c.(589-591)gGc>gAc	p.G197D	LRRC15_ENST00000439944.2_Missense_Mutation_p.G203D|LRRC15_ENST00000428839.1_Missense_Mutation_p.G203D	NM_130830.4	NP_570843.2	Q8TF66	LRC15_HUMAN	leucine rich repeat containing 15	197					negative regulation of establishment of protein localization to plasma membrane (GO:0090005)|positive regulation of cell migration (GO:0030335)|receptor-mediated virion attachment to host cell (GO:0046813)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	collagen binding (GO:0005518)|fibronectin binding (GO:0001968)|laminin binding (GO:0043236)			biliary_tract(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(20)|ovary(4)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	all_cancers(143;5.31e-09)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.94e-05)		CTGGAGGTTGCCCAGGTGCTG	0.572																																						ENST00000347624.3																			0				biliary_tract(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(20)|ovary(4)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						c.(589-591)gGc>gAc		leucine rich repeat containing 15							177	178	178					3																	194081183		2203	4300	6503	SO:0001583	missense	131578					integral to membrane		g.chr3:194081183C>T	AB071037	CCDS3306.1, CCDS46984.1	3q29	2008-02-05			ENSG00000172061	ENSG00000172061			20818	protein-coding gene	gene with protein product						12923058	Standard	NM_001135057		Approved	LIB	uc003ftu.3	Q8TF66	OTTHUMG00000156048	ENST00000347624.3:c.590G>A	3.37:g.194081183C>T	ENSP00000306276:p.Gly197Asp					LRRC15_ENST00000428839.1_Missense_Mutation_p.G203D|LRRC15_ENST00000439944.2_Missense_Mutation_p.G203D	p.G197D	NM_130830.4	NP_570843.2	Q8TF66	LRC15_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.94e-05)	2	675	-	all_cancers(143;5.31e-09)|Ovarian(172;0.0634)		197					Q495Q6|Q7RTN7	Missense_Mutation	SNP	ENST00000347624.3	37	c.590G>A	CCDS3306.1	.	.	.	.	.	.	.	.	.	.	C	13.97	2.394579	0.42512	.	.	ENSG00000172061	ENST00000347624;ENST00000439944;ENST00000428839	T;T;T	0.55930	0.49;0.49;0.49	5.02	4.09	0.47781	.	0.288935	0.28151	N	0.016403	T	0.35335	0.0928	L	0.33624	1.015	0.29782	N	0.833894	P;B	0.37781	0.608;0.017	B;B	0.36418	0.224;0.022	T	0.18777	-1.0326	10	0.11182	T	0.66	.	9.3445	0.38100	0.0:0.6469:0.2641:0.0891	.	197;203	Q8TF66;Q8TF66-2	LRC15_HUMAN;.	D	197;203;203	ENSP00000306276:G197D;ENSP00000389128:G203D;ENSP00000413707:G203D	ENSP00000306276:G197D	G	-	2	0	LRRC15	195562478	0.000000	0.05858	1.000000	0.80357	0.996000	0.88848	0.249000	0.18216	2.497000	0.84241	0.563000	0.77884	GGC		0.572	LRRC15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342858.2			68	112	0	0	0	1	0	68	112					T	194081183	C	T	194081183	3	4	115	1	0	0	0	0	1	0	0	0	8970	739	26	3	1159	3	LRRC15	3	194081183	Missense_Mutation	SNP	C	TCGA-EJ-A46G-01A-31D-A26M-08	37335088	194081183	3941247	20	6139											
ATP10D	57205	broad.mit.edu	37	chr4	47527619	47527619	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttccagtaggatagaatgtGaaagcccaaacaatgacctc	15	9	8	9	0	0	3	0	2	0	1	2	4	1	4	3	1	2	1	3	1	6	3			TCGA-EJ-A46G-01A-31D-A26M-08	TCGA-EJ-A46G-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc5e0ab-5177-49f7-8b17-e7782996202d	4f11c4f9-f9a5-424a-b0cb-8bf2f444e04a	g.chr4:47527619G>T	ENST00000273859.3	+	5	1005	c.736G>T	c.(736-738)Gaa>Taa	p.E246*	ATP10D_ENST00000504445.1_Nonsense_Mutation_p.E246*	NM_020453.3	NP_065186.3	Q9P241	AT10D_HUMAN	ATPase, class V, type 10D	246					cation transport (GO:0006812)|ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	66						GATAGAATGTGAAAGCCCAAA	0.363																																						ENST00000273859.3																			0				NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	66						c.(736-738)Gaa>Taa		ATPase, class V, type 10D							102	101	101					4																	47527619		2203	4300	6503	SO:0001587	stop_gained	57205				ATP biosynthetic process|cation transport	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr4:47527619G>T	AB040920	CCDS3476.1	4p12	2010-04-20	2007-09-19		ENSG00000145246	ENSG00000145246		"ATPases / P-type"	13549	protein-coding gene	gene with protein product			"ATPase, Class V, type 10D"			12532265	Standard	NM_020453		Approved	ATPVD, KIAA1487	uc003gxk.1	Q9P241	OTTHUMG00000160784	ENST00000273859.3:c.736G>T	4.37:g.47527619G>T	ENSP00000273859:p.Glu246*					ATP10D_ENST00000504445.1_Nonsense_Mutation_p.E246*	p.E246*	NM_020453.3	NP_065186.3	Q9P241	AT10D_HUMAN			5	1005	+			246					A2RRC8|D6REN2|Q8NC70|Q96SR3	Nonsense_Mutation	SNP	ENST00000273859.3	37	c.736G>T	CCDS3476.1	.	.	.	.	.	.	.	.	.	.	G	39	7.562327	0.98358	.	.	ENSG00000145246	ENST00000273859;ENST00000504445	.	.	.	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-25.0766	19.0608	0.93091	0.0:0.0:1.0:0.0	.	.	.	.	X	246	.	ENSP00000273859:E246X	E	+	1	0	ATP10D	47222376	1.000000	0.71417	1.000000	0.80357	0.885000	0.51271	9.775000	0.98995	2.811000	0.96726	0.655000	0.94253	GAA		0.363	ATP10D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216900.1	NM_020453		5	23	1	0	5.9392e-07	1	6.97856e-07	5	23					T	47527619	G	T	47527619	4	4	115	1	0	0	0	0	0	1	0	0	1118	1291	45	5	750	5	ATP10D	4	47527619	Nonsense_Mutation	SNP	G	TCGA-EJ-A46G-01A-31D-A26M-08		47527619	143626657	21	6140											
NNT	23530	broad.mit.edu	37	chr5	43645506	43645506	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	acaccgaaaaatattcctcaAggtgccccagtaaaacagaa	18	6	6	11	1	1	1	1	0	0	1	2	2	2	1	4	1	2	1	4	1	7	3			TCGA-EJ-A46G-01A-31D-A26M-08	TCGA-EJ-A46G-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc5e0ab-5177-49f7-8b17-e7782996202d	4f11c4f9-f9a5-424a-b0cb-8bf2f444e04a	g.chr5:43645506A>C	ENST00000264663.5	+	10	1559	c.1338A>C	c.(1336-1338)caA>caC	p.Q446H	NNT_ENST00000344920.4_Missense_Mutation_p.Q446H|NNT_ENST00000512996.2_Missense_Mutation_p.Q315H	NM_012343.3	NP_036475.3	Q13423	NNTM_HUMAN	nicotinamide nucleotide transhydrogenase	446					cellular metabolic process (GO:0044237)|hydrogen ion transmembrane transport (GO:1902600)|oxidation-reduction process (GO:0055114)|proton transport (GO:0015992)|reactive oxygen species metabolic process (GO:0072593)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain (GO:0005746)|mitochondrion (GO:0005739)	NAD binding (GO:0051287)|NAD(P)+ transhydrogenase (AB-specific) activity (GO:0008750)|NAD(P)+ transhydrogenase (B-specific) activity (GO:0003957)|NAD(P)+ transhydrogenase activity (GO:0008746)|NADP binding (GO:0050661)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(7)|large_intestine(6)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	Lung NSC(6;2.58e-06)					ATATTCCTCAAGGTGCCCCAG	0.403																																						ENST00000264663.5																			0				breast(1)|central_nervous_system(2)|endometrium(2)|kidney(7)|large_intestine(6)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						c.(1336-1338)caA>caC		nicotinamide nucleotide transhydrogenase	NADH(DB00157)						76	75	75					5																	43645506		2203	4300	6503	SO:0001583	missense	23530				tricarboxylic acid cycle	integral to membrane|mitochondrial respiratory chain	NAD binding|NAD(P)+ transhydrogenase (AB-specific) activity|NAD(P)+ transhydrogenase (B-specific) activity|NADP binding	g.chr5:43645506A>C	U40490	CCDS3949.1	5p12	2008-02-05			ENSG00000112992	ENSG00000112992	1.6.1.1		7863	protein-coding gene	gene with protein product		607878				9271681, 9524818	Standard	NM_182977		Approved		uc003jof.3	Q13423	OTTHUMG00000096961	ENST00000264663.5:c.1338A>C	5.37:g.43645506A>C	ENSP00000264663:p.Gln446His					NNT_ENST00000512996.2_Missense_Mutation_p.Q315H|NNT_ENST00000344920.4_Missense_Mutation_p.Q446H	p.Q446H	NM_012343.3	NP_036475.3	Q13423	NNTM_HUMAN			10	1559	+	Lung NSC(6;2.58e-06)		446					Q16796|Q2TB60|Q8N3V4	Missense_Mutation	SNP	ENST00000264663.5	37	c.1338A>C	CCDS3949.1	.	.	.	.	.	.	.	.	.	.	A	14.75	2.629061	0.46944	.	.	ENSG00000112992	ENST00000264663;ENST00000344920;ENST00000512996;ENST00000503651	D;D;D;T	0.95690	-3.78;-3.78;-3.66;-1.18	5.49	1.82	0.25136	.	0.590238	0.18854	N	0.129333	D	0.93936	0.8059	M	0.76328	2.33	0.30432	N	0.777066	B	0.26512	0.151	B	0.30572	0.117	D	0.91195	0.4987	10	0.72032	D	0.01	-0.1061	9.0149	0.36164	0.5956:0.0:0.4044:0.0	.	446	Q13423	NNTM_HUMAN	H	446;446;315;16	ENSP00000264663:Q446H;ENSP00000343873:Q446H;ENSP00000426343:Q315H;ENSP00000421674:Q16H	ENSP00000264663:Q446H	Q	+	3	2	NNT	43681263	0.000000	0.05858	0.998000	0.56505	0.980000	0.70556	-0.354000	0.07681	0.386000	0.24997	-0.287000	0.09952	CAA		0.403	NNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214026.1	NM_182977		4	51	0	0	0	1	0	4	51					C	43645506	A	C	43645506	3	2	115	1	0	0	0	0	1	0	0	0	10510	69	3	5	1372	5	NNT	5	43645506	Missense_Mutation	SNP	A	TCGA-EJ-A46G-01A-31D-A26M-08		43645506	137269754	22	6141											
CKMT2	1160	broad.mit.edu	37	chr5	80554973	80554973	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaagaacgaggctgggagtTcatgtggaatgagcgcctag	11	7	15	8	2	1	2	1	1	0	1	1	5	1	4	2	3	2	2	2	3	4	2			TCGA-EJ-A46G-01A-31D-A26M-08	TCGA-EJ-A46G-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc5e0ab-5177-49f7-8b17-e7782996202d	4f11c4f9-f9a5-424a-b0cb-8bf2f444e04a	g.chr5:80554973T>C	ENST00000424301.2	+	9	1152	c.914T>C	c.(913-915)tTc>tCc	p.F305S	CKMT2-AS1_ENST00000500148.2_RNA|CKMT2-AS1_ENST00000511495.1_RNA|CKMT2-AS1_ENST00000501927.2_RNA|CKMT2-AS1_ENST00000505295.1_RNA|CKMT2-AS1_ENST00000512287.1_RNA|CKMT2_ENST00000437669.1_Missense_Mutation_p.F305S|CKMT2-AS1_ENST00000502041.2_RNA|CKMT2-AS1_ENST00000503483.2_RNA|CKMT2_ENST00000254035.4_Missense_Mutation_p.F305S	NM_001825.2	NP_001816.2	P17540	KCRS_HUMAN	creatine kinase, mitochondrial 2 (sarcomeric)	305	Phosphagen kinase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00843}.				cellular nitrogen compound metabolic process (GO:0034641)|creatine metabolic process (GO:0006600)|muscle contraction (GO:0006936)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|creatine kinase activity (GO:0004111)			breast(2)|cervix(1)|endometrium(2)|large_intestine(7)|lung(4)|urinary_tract(1)	17		Lung NSC(167;0.00475)|all_lung(232;0.00502)|Ovarian(174;0.0336)		OV - Ovarian serous cystadenocarcinoma(54;2.29e-44)|Epithelial(54;1.05e-38)|all cancers(79;4.15e-34)	Creatine(DB00148)	GGCTGGGAGTTCATGTGGAAT	0.473																																						ENST00000424301.2																			0				breast(2)|cervix(1)|endometrium(2)|large_intestine(7)|lung(4)|urinary_tract(1)	17						c.(913-915)tTc>tCc		creatine kinase, mitochondrial 2 (sarcomeric)	Creatine(DB00148)						249	224	232					5																	80554973		2203	4300	6503	SO:0001583	missense	1160				creatine metabolic process|muscle contraction	mitochondrial inner membrane	ATP binding|creatine kinase activity	g.chr5:80554973T>C		CCDS4053.1	5q14.1	2013-09-20			ENSG00000131730	ENSG00000131730	2.7.3.2		1996	protein-coding gene	gene with protein product		123295				2324105	Standard	NM_001825		Approved	SMTCK	uc003khd.4	P17540	OTTHUMG00000119013	ENST00000424301.2:c.914T>C	5.37:g.80554973T>C	ENSP00000404203:p.Phe305Ser					CTC-281B15.1_ENST00000511495.1_RNA|CTC-281B15.1_ENST00000501927.2_RNA|CKMT2_ENST00000254035.4_Missense_Mutation_p.F305S|CTC-281B15.1_ENST00000505295.1_RNA|CTC-281B15.1_ENST00000500148.2_RNA|CTC-281B15.1_ENST00000503483.2_RNA|CKMT2_ENST00000437669.1_Missense_Mutation_p.F305S|CTC-281B15.1_ENST00000502041.2_RNA|CTC-281B15.1_ENST00000512287.1_RNA	p.F305S	NM_001825.2	NP_001816.2	P17540	KCRS_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;2.29e-44)|Epithelial(54;1.05e-38)|all cancers(79;4.15e-34)	9	1152	+		Lung NSC(167;0.00475)|all_lung(232;0.00502)|Ovarian(174;0.0336)	305			Phosphagen kinase C-terminal.		Q6ICS8|Q8N1E1	Missense_Mutation	SNP	ENST00000424301.2	37	c.914T>C	CCDS4053.1	.	.	.	.	.	.	.	.	.	.	T	29.4	5.003035	0.93287	.	.	ENSG00000131730	ENST00000254035;ENST00000437669;ENST00000424301	T;T;T	0.23950	1.88;1.88;1.88	5.29	5.29	0.74685	ATP:guanido phosphotransferase, catalytic domain (2);Glutamine synthetase/guanido kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.65616	0.2708	H	0.96970	3.915	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.78814	-0.2056	10	0.87932	D	0	-32.9464	15.2066	0.73183	0.0:0.0:0.0:1.0	.	305	P17540	KCRS_HUMAN	S	305	ENSP00000254035:F305S;ENSP00000410289:F305S;ENSP00000404203:F305S	ENSP00000254035:F305S	F	+	2	0	CKMT2	80590729	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.146000	0.71777	2.008000	0.58898	0.482000	0.46254	TTC		0.473	CKMT2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369600.1	NM_001825		48	59	0	0	0	1	0	48	59					C	80554973	T	C	80554973	3	2	115	1	0	0	0	0	1	0	0	0	3451	1783	62	4	940	4	CKMT2	5	80554973	Missense_Mutation	SNP	T	TCGA-EJ-A46G-01A-31D-A26M-08	36909467	80554973	100360287	23	6142											
NUDT12	83594	broad.mit.edu	37	chr5	102888022	102888022	+	Frame_Shift_Del	DEL	T	T	-																															aatcattaaggaggaaggcaTtggccatggttgacaagcaa																										TCGA-EJ-A46G-01A-31D-A26M-08	TCGA-EJ-A46G-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc5e0ab-5177-49f7-8b17-e7782996202d	4f11c4f9-f9a5-424a-b0cb-8bf2f444e04a	g.chr5:102888022delT	ENST00000230792.2	-	6	1270	c.1174delA	c.(1174-1176)atgfs	p.M392fs	NUDT12_ENST00000507423.1_Frame_Shift_Del_p.M374fs|NUDT12_ENST00000515407.1_5'Flank	NM_031438.2	NP_113626.1	Q9BQG2	NUD12_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 12	392	Nudix hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00794}.				NAD catabolic process (GO:0019677)|NADP catabolic process (GO:0006742)	nucleus (GO:0005634)|peroxisome (GO:0005777)	metal ion binding (GO:0046872)|NAD+ diphosphatase activity (GO:0000210)|NADH pyrophosphatase activity (GO:0035529)			endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(6)|urinary_tract(1)	12		all_cancers(142;6.38e-08)|all_epithelial(76;1.99e-10)|Prostate(80;0.0138)|Lung NSC(167;0.0212)|Colorectal(57;0.0247)|all_lung(232;0.0283)|Ovarian(225;0.0423)		Epithelial(69;9.3e-13)|COAD - Colon adenocarcinoma(37;0.0221)		GAGGAAGGCATTGGCCATGGT	0.423																																						ENST00000230792.2																			0				endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(6)|urinary_tract(1)	12						c.(1174-1176)tgfs		nudix (nucleoside diphosphate linked moiety X)-type motif 12							226	203	211					5																	102888022		2202	4300	6502	SO:0001589	frameshift_variant	83594					nucleus|peroxisome	metal ion binding|NAD+ diphosphatase activity	g.chr5:102888022delT	AL136592	CCDS4096.1, CCDS75284.1	5q15	2013-01-10			ENSG00000112874	ENSG00000112874		"Nudix motif containing", "Ankyrin repeat domain containing"	18826	protein-coding gene	gene with protein product	"nucleoside diphosphate linked moiety X-type motif 12"	609232				11230166	Standard	XM_005272095		Approved	DKFZP761I172	uc003koi.3	Q9BQG2	OTTHUMG00000128739	ENST00000230792.2:c.1174delA	5.37:g.102888022delT	ENSP00000230792:p.Met392fs					NUDT12_ENST00000507423.1_Frame_Shift_Del_p.M374fs	p.M392fs	NM_031438.2	NP_113626.1	Q9BQG2	NUD12_HUMAN		Epithelial(69;9.3e-13)|COAD - Colon adenocarcinoma(37;0.0221)	6	1270	-		all_cancers(142;6.38e-08)|all_epithelial(76;1.99e-10)|Prostate(80;0.0138)|Lung NSC(167;0.0212)|Colorectal(57;0.0247)|all_lung(232;0.0283)|Ovarian(225;0.0423)	392			Nudix hydrolase.		B3KUW2|Q8TAL7	Frame_Shift_Del	DEL	ENST00000230792.2	37	c.1174delA	CCDS4096.1																																																																																				0.423	NUDT12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250650.1	NM_031438		12	22						12	22	---	---	---	---	-	102888022	T	-	102888022	7	5	115	1	0	1	0	1	0	0	0	0	10728	1493	52	0	222	0	NUDT12	5	102888022	Frame_Shift_Del	DEL	T	TCGA-EJ-A46G-01A-31D-A26M-08	22333049	102888022	78027238	24	6143											
MYLIP	29116	broad.mit.edu	37	chr6	16146916	16146916	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtcccgtctgcaggtcgcgTgtggagcatgtccagcacgt	5	10	14	12	4	1	0	0	0	1	0	4	1	3	1	2	2	3	3	2	2	0	0			TCGA-EJ-A46G-01A-31D-A26M-08	TCGA-EJ-A46G-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc5e0ab-5177-49f7-8b17-e7782996202d	4f11c4f9-f9a5-424a-b0cb-8bf2f444e04a	g.chr6:16146916T>A	ENST00000356840.3	+	7	1470	c.1272T>A	c.(1270-1272)cgT>cgA	p.R424R	MYLIP_ENST00000349606.4_Silent_p.R243R|U3_ENST00000515984.1_RNA	NM_013262.3	NP_037394.2	Q8WY64	MYLIP_HUMAN	myosin regulatory light chain interacting protein	424					cellular component movement (GO:0006928)|cholesterol homeostasis (GO:0042632)|negative regulation of low-density lipoprotein particle clearance (GO:0010989)|nervous system development (GO:0007399)|positive regulation of protein catabolic process (GO:0045732)|protein destabilization (GO:0031648)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of low-density lipoprotein particle receptor catabolic process (GO:0032803)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	cytoskeletal protein binding (GO:0008092)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28	Breast(50;0.0799)|Ovarian(93;0.103)	all_hematologic(90;0.0895)	Epithelial(50;0.241)			GCAGGTCGCGTGTGGAGCATG	0.532																																						ENST00000349606.4																			0				breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28						c.(727-729)cgT>cgA		myosin regulatory light chain interacting protein							187	141	156					6																	16146916		2203	4300	6503	SO:0001819	synonymous_variant	29116				cellular component movement|nervous system development	cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr6:16146916T>A	AF187016	CCDS4536.1	6p23-p22.3	2011-11-17			ENSG00000007944	ENSG00000007944			21155	protein-coding gene	gene with protein product	"E3 ubiquitin ligase-inducible degrader of the low density lipoprotein receptor"	610082				10593918, 11162443, 19688294	Standard	NM_013262		Approved	MIR, IDOL	uc003nbq.3	Q8WY64	OTTHUMG00000016405	ENST00000356840.3:c.1272T>A	6.37:g.16146916T>A						MYLIP_ENST00000356840.3_Silent_p.R424R	p.R243R			Q8WY64	MYLIP_HUMAN	Epithelial(50;0.241)		6	1233	+	Breast(50;0.0799)|Ovarian(93;0.103)	all_hematologic(90;0.0895)	424			FERM.		Q5TIA4|Q9BU73|Q9NRL9|Q9UHE7	Silent	SNP	ENST00000356840.3	37	c.729T>A	CCDS4536.1																																																																																				0.532	MYLIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043864.1	NM_013262		3	8	0	0	0	1	0	3	8					A	16146916	T	A	16146916	2	1	115	1	0	0	0	0	0	0	0	1	10055	1683	59	5		5	MYLIP	6	16146916	Silent	SNP	T	TCGA-EJ-A46G-01A-31D-A26M-08		16146916	154968151	25	6144											
C2	717	broad.mit.edu	37	chr6	31911054	31911054	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtggggaacatgtcagcaaaCgcctctgaccaggagaggac	12	5	14	10	1	2	2	1	1	1	1	2	5	2	4	2	4	3	1	2	4	2	0	rs138221333		TCGA-EJ-A46G-01A-31D-A26M-08	TCGA-EJ-A46G-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc5e0ab-5177-49f7-8b17-e7782996202d	4f11c4f9-f9a5-424a-b0cb-8bf2f444e04a	g.chr6:31911054C>T	ENST00000299367.5	+	11	1689	c.1413C>T	c.(1411-1413)aaC>aaT	p.N471N	C2_ENST00000452323.2_Silent_p.N257N|CFB_ENST00000556679.1_Silent_p.N318N|CFB_ENST00000456570.1_Silent_p.N318N|C2_ENST00000442278.2_Silent_p.N339N|C2_ENST00000469372.1_Silent_p.N225N|CFB_ENST00000425368.2_5'Flank|CFB_ENST00000477310.1_Silent_p.N242N	NM_000063.4	NP_000054.2	P06681	CO2_HUMAN	complement component 2	471	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)|positive regulation of apoptotic cell clearance (GO:2000427)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(1)|skin(2)|urinary_tract(2)	27		Ovarian(999;0.00965)		LUAD - Lung adenocarcinoma(999;0.247)		TGTCAGCAAACGCCTCTGACC	0.577													C|||	1	0.000199681	8e-04	0	5008	,	,		18788	0		0	False		,,,				2504	0					ENST00000456570.1																			0				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|urinary_tract(1)	21						c.(952-954)aaC>aaT		complement factor B		C	,,	3,3019		0,3,1508	68	63	65		1413,1017,771	-2.7	1	6	dbSNP_134	65	0,5418		0,0,2709	no	coding-synonymous,coding-synonymous,coding-synonymous	C2	NM_000063.4,NM_001145903.1,NM_001178063.1	,,	0,3,4217	TT,TC,CC		0.0,0.0993,0.0355	,,	471/753,339/621,257/539	31911054	3,8437	1511	2709	4220	SO:0001819	synonymous_variant	629				complement activation, alternative pathway|proteolysis	extracellular region|plasma membrane	complement binding|serine-type endopeptidase activity	g.chr6:31911054C>T		CCDS4728.1, CCDS54991.1, CCDS56416.1, CCDS75427.1, CCDS75428.1	6p21.3	2014-09-17			ENSG00000166278	ENSG00000166278		"Complement system"	1248	protein-coding gene	gene with protein product		613927					Standard	NM_001145903		Approved		uc011hbs.1	P06681	OTTHUMG00000031190	ENST00000299367.5:c.1413C>T	6.37:g.31911054C>T						C2_ENST00000469372.1_Silent_p.N225N|C2_ENST00000442278.2_Silent_p.N339N|C2_ENST00000452323.2_Silent_p.N257N|C2_ENST00000299367.5_Silent_p.N471N|CFB_ENST00000556679.1_Silent_p.N318N|CFB_ENST00000477310.1_Silent_p.N242N	p.N318N			P00751	CFAB_HUMAN			8	1009	+			486			VWFA.		B4DPF3|B4DV20|E9PFN7|O19694|Q13904	Silent	SNP	ENST00000299367.5	37	c.954C>T	CCDS4728.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	9.462	1.093444	0.20471	9.93E-4	0.0	ENSG00000166278	ENST00000383177	.	.	.	5.8	-2.67	0.06059	.	.	.	.	.	T	0.40839	0.1133	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.49113	-0.8973	4	.	.	.	-23.6038	10.4745	0.44657	0.0:0.5071:0.0:0.4929	.	.	.	.	M	245	.	.	T	+	2	0	C2	32019033	0.992000	0.36948	0.989000	0.46669	0.903000	0.53119	-0.063000	0.11655	-0.362000	0.08113	-0.693000	0.03709	ACG		0.577	C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076379.9			23	26	0	0	0	1	0	23	26					T	31911054	C	T	31911054	2	4	115	1	0	0	0	0	0	0	0	1	2074	535	19	1		1	C2	6	31911054	Silent	SNP	C	TCGA-EJ-A46G-01A-31D-A26M-08	15764138	31911054	139204013	26	6145											
GPR110	266977	broad.mit.edu	37	chr6	46977705	46977705	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttttggaaacgggtagaatgTtccccagagtcaacgaggcc	11	9	12	9	2	1	2	1	0	0	2	2	4	2	3	3	3	2	2	3	3	4	4			TCGA-EJ-A46G-01A-31D-A26M-08	TCGA-EJ-A46G-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc5e0ab-5177-49f7-8b17-e7782996202d	4f11c4f9-f9a5-424a-b0cb-8bf2f444e04a	g.chr6:46977705T>A	ENST00000371253.2	-	11	1681	c.1466A>T	c.(1465-1467)aAc>aTc	p.N489I	GPR110_ENST00000449332.2_5'UTR|GPR110_ENST00000283297.5_Missense_Mutation_p.N292I	NM_153840.2	NP_722582.2	Q5T601	GP110_HUMAN	G protein-coupled receptor 110	489					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	29						GGGTAGAATGTTCCCCAGAGT	0.413																																						ENST00000371253.2																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	29						c.(1465-1467)aAc>aTc		G protein-coupled receptor 110							80	79	79					6																	46977705		2203	4300	6503	SO:0001583	missense	266977				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr6:46977705T>A	AB083618	CCDS4920.1, CCDS34471.1	6p21.1	2014-08-08			ENSG00000153292	ENSG00000153292		"-", "GPCR / Class B : Orphans"	18990	protein-coding gene	gene with protein product						12435584, 14623098	Standard	XM_005249006		Approved	hGPCR36, PGR19	uc003oyt.3	Q5T601	OTTHUMG00000014795	ENST00000371253.2:c.1466A>T	6.37:g.46977705T>A	ENSP00000360299:p.Asn489Ile					GPR110_ENST00000283297.5_Missense_Mutation_p.N292I|GPR110_ENST00000449332.2_5'UTR	p.N489I	NM_153840.2	NP_722582.2	Q5T601	GP110_HUMAN			11	1681	-			489					Q5KU15|Q5T5Z9|Q5T600|Q86SM1|Q8IXE3|Q8IZF8|Q96DQ1|Q9H615	Missense_Mutation	SNP	ENST00000371253.2	37	c.1466A>T	CCDS34471.1	.	.	.	.	.	.	.	.	.	.	T	14.34	2.505346	0.44558	.	.	ENSG00000153292	ENST00000371252;ENST00000371253;ENST00000283297	T;T	0.35421	1.32;1.31	5.2	1.25	0.21368	.	0.957043	0.08681	N	0.909440	T	0.13030	0.0316	L	0.51422	1.61	0.09310	N	1	P	0.37864	0.61	B	0.32864	0.154	T	0.13899	-1.0492	10	0.35671	T	0.21	-1.0315	7.9192	0.29835	0.0:0.0825:0.3899:0.5275	.	489	Q5T601	GP110_HUMAN	I	489;489;292	ENSP00000360299:N489I;ENSP00000283297:N292I	ENSP00000283297:N292I	N	-	2	0	GPR110	47085664	0.000000	0.05858	0.059000	0.19551	0.570000	0.35934	-1.164000	0.03135	0.885000	0.36088	0.454000	0.30748	AAC		0.413	GPR110-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040810.2	NM_153840		12	17	0	0	0	1	0	12	17					A	46977705	T	A	46977705	3	1	115	1	0	0	0	0	1	0	0	0	6627	1725	60	5	1286	5	GPR110	6	46977705	Missense_Mutation	SNP	T	TCGA-EJ-A46G-01A-31D-A26M-08	15066651	46977705	124137362	27	6146											
SESN1	27244	broad.mit.edu	37	chr6	109322526	109322526	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtgacgataatgtaggggtaAcggcccatccatttgcagta	11	10	12	8	2	0	1	0	1	0	0	1	2	1	1	2	3	2	4	2	3	4	5			TCGA-EJ-A46G-01A-31D-A26M-08	TCGA-EJ-A46G-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc5e0ab-5177-49f7-8b17-e7782996202d	4f11c4f9-f9a5-424a-b0cb-8bf2f444e04a	g.chr6:109322526A>C	ENST00000356644.7	-	3	428	c.334T>G	c.(334-336)Tta>Gta	p.L112V	SESN1_ENST00000436639.2_Missense_Mutation_p.L171V|RP11-787I22.3_ENST00000605885.1_RNA|SESN1_ENST00000302071.2_Missense_Mutation_p.L46V	NM_001199933.1	NP_001186862.1	Q9Y6P5	SESN1_HUMAN	sestrin 1	112					cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|negative regulation of cell proliferation (GO:0008285)|regulation of protein kinase B signaling (GO:0051896)|regulation of response to reactive oxygen species (GO:1901031)	nucleus (GO:0005634)				cervix(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	10		all_cancers(87;6.45e-05)|Acute lymphoblastic leukemia(125;3.55e-10)|all_hematologic(75;1.68e-07)|all_epithelial(87;0.0106)|Colorectal(196;0.0637)		Epithelial(106;0.0014)|BRCA - Breast invasive adenocarcinoma(108;0.00146)|all cancers(137;0.0031)|OV - Ovarian serous cystadenocarcinoma(136;0.0117)		TGTAGGGGTAACGGCCCATCC	0.348																																						ENST00000436639.2																			0				cervix(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	10						c.(511-513)Tta>Gta		sestrin 1							81	77	78					6																	109322526		2203	4300	6503	SO:0001583	missense	27244				cell cycle arrest|negative regulation of cell proliferation|response to DNA damage stimulus	nucleus		g.chr6:109322526A>C	AF033120	CCDS5070.1, CCDS56444.1, CCDS56445.1	6q21	2008-10-23			ENSG00000080546	ENSG00000080546			21595	protein-coding gene	gene with protein product		606103				9926927, 7938006	Standard	NM_014454		Approved	SEST1, PA26	uc003psu.3	Q9Y6P5	OTTHUMG00000015338	ENST00000356644.7:c.334T>G	6.37:g.109322526A>C	ENSP00000349061:p.Leu112Val					SESN1_ENST00000356644.7_Missense_Mutation_p.L112V|SESN1_ENST00000302071.2_Missense_Mutation_p.L46V	p.L171V	NM_014454.2	NP_055269.1	Q9Y6P5	SESN1_HUMAN		Epithelial(106;0.0014)|BRCA - Breast invasive adenocarcinoma(108;0.00146)|all cancers(137;0.0031)|OV - Ovarian serous cystadenocarcinoma(136;0.0117)	3	1256	-		all_cancers(87;6.45e-05)|Acute lymphoblastic leukemia(125;3.55e-10)|all_hematologic(75;1.68e-07)|all_epithelial(87;0.0106)|Colorectal(196;0.0637)	112					Q2M2B7|Q5T316|Q9NV00|Q9UPD5|Q9Y6P6	Missense_Mutation	SNP	ENST00000356644.7	37	c.511T>G	CCDS56445.1	.	.	.	.	.	.	.	.	.	.	A	17.70	3.454412	0.63290	.	.	ENSG00000080546	ENST00000436639;ENST00000302071;ENST00000356644	T;T;T	0.69435	-0.4;-0.4;-0.4	5.41	3.04	0.35103	.	0.000000	0.85682	D	0.000000	T	0.76004	0.3927	M	0.91510	3.215	0.80722	D	1	D;D	0.69078	0.996;0.997	D;D	0.79108	0.986;0.992	T	0.77208	-0.2672	10	0.87932	D	0	-23.1554	4.6133	0.12413	0.5103:0.0:0.4897:0.0	.	171;112	Q9Y6P5-2;Q9Y6P5	.;SESN1_HUMAN	V	171;46;112	ENSP00000393762:L171V;ENSP00000306734:L46V;ENSP00000349061:L112V	ENSP00000306734:L46V	L	-	1	2	SESN1	109429219	0.998000	0.40836	0.996000	0.52242	0.985000	0.73830	2.920000	0.48844	0.892000	0.36259	0.528000	0.53228	TTA		0.348	SESN1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000041738.4	NM_014454		9	22	0	0	0	1	0	9	22					C	109322526	A	C	109322526	3	2	115	1	0	0	0	0	1	0	0	0	14124	40	2	5	1176	5	SESN1	6	109322526	Missense_Mutation	SNP	A	TCGA-EJ-A46G-01A-31D-A26M-08	62344821	109322526	61792541	28	6147											
KPNA5	3841	broad.mit.edu	37	chr6	117045527	117045527	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atattgtgactggtgatgatAttcaaacacaggtgagttca	13	13	10	5	0	2	4	2	4	0	0	2	4	2	4	0	2	1	1	0	2	3	5			TCGA-EJ-A46G-01A-31D-A26M-08	TCGA-EJ-A46G-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc5e0ab-5177-49f7-8b17-e7782996202d	4f11c4f9-f9a5-424a-b0cb-8bf2f444e04a	g.chr6:117045527A>G	ENST00000368564.1	+	10	1136	c.988A>G	c.(988-990)Att>Gtt	p.I330V	KPNA5_ENST00000356348.1_Missense_Mutation_p.I330V			O15131	IMA6_HUMAN	karyopherin alpha 5 (importin alpha 6)	327	NLS binding site (minor). {ECO:0000250}.				cytokine-mediated signaling pathway (GO:0019221)|NLS-bearing protein import into nucleus (GO:0006607)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)	protein transporter activity (GO:0008565)			breast(6)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0298)|all cancers(137;0.0461)|OV - Ovarian serous cystadenocarcinoma(136;0.0513)|Epithelial(106;0.212)		TGGTGATGATATTCAAACACA	0.279																																						ENST00000368564.1																			0				breast(6)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						c.(988-990)Att>Gtt		karyopherin alpha 5 (importin alpha 6)							90	88	89					6																	117045527		2203	4298	6501	SO:0001583	missense	3841				NLS-bearing substrate import into nucleus	cytoplasm|nuclear pore	protein binding|protein transporter activity	g.chr6:117045527A>G	AF005361	CCDS5111.1	6q22.2	2013-02-14			ENSG00000196911	ENSG00000196911		"Importins", "Armadillo repeat containing"	6398	protein-coding gene	gene with protein product		604545				9395085	Standard	NM_002269		Approved	SRP6, IPOA6	uc003pxh.3	O15131	OTTHUMG00000015448	ENST00000368564.1:c.988A>G	6.37:g.117045527A>G	ENSP00000357552:p.Ile330Val					KPNA5_ENST00000356348.1_Missense_Mutation_p.I330V	p.I330V			O15131	IMA5_HUMAN		GBM - Glioblastoma multiforme(226;0.0298)|all cancers(137;0.0461)|OV - Ovarian serous cystadenocarcinoma(136;0.0513)|Epithelial(106;0.212)	10	1136	+		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)	327			NLS binding site (minor) (By similarity).		B2RAI5|Q86X23	Missense_Mutation	SNP	ENST00000368564.1	37	c.988A>G	CCDS5111.1	.	.	.	.	.	.	.	.	.	.	A	8.484	0.860389	0.17178	.	.	ENSG00000196911	ENST00000368564;ENST00000356348	T;T	0.27890	1.64;1.64	5.49	5.49	0.81192	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.64402	D	0.000001	T	0.06416	0.0165	N	0.02708	-0.52	0.37373	D	0.911717	B	0.02656	0.0	B	0.04013	0.001	T	0.17653	-1.0362	10	0.22706	T	0.39	.	15.588	0.76502	1.0:0.0:0.0:0.0	.	327	O15131	IMA5_HUMAN	V	330	ENSP00000357552:I330V;ENSP00000348704:I330V	ENSP00000348704:I330V	I	+	1	0	KPNA5	117152220	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.811000	0.69187	2.084000	0.62774	0.482000	0.46254	ATT		0.279	KPNA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041967.1	NM_002269		12	8	0	0	0	1	0	12	8					G	117045527	A	G	117045527	3	3	115	1	0	0	0	0	1	0	0	0	8433	449	16	4	1026	4	KPNA5	6	117045527	Missense_Mutation	SNP	A	TCGA-EJ-A46G-01A-31D-A26M-08	7723001	117045527	54069540	29	6148											
EPB41L2	2037	broad.mit.edu	37	chr6	131184804	131184804	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atgatcaatatctccatctcCtgtgatcacaatgcgtttct	10	15	5	11	1	5	2	2	2	3	0	7	2	5	2	2	0	1	1	2	0	3	2			TCGA-EJ-A46G-01A-31D-A26M-08	TCGA-EJ-A46G-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc5e0ab-5177-49f7-8b17-e7782996202d	4f11c4f9-f9a5-424a-b0cb-8bf2f444e04a	g.chr6:131184804C>T	ENST00000337057.3	-	18	3065	c.2884G>A	c.(2884-2886)Gga>Aga	p.G962R	EPB41L2_ENST00000531410.1_Missense_Mutation_p.G83R|EPB41L2_ENST00000527411.1_Missense_Mutation_p.G892R|EPB41L2_ENST00000530757.1_Missense_Mutation_p.G158R|EPB41L2_ENST00000368128.2_Missense_Mutation_p.G962R|EPB41L2_ENST00000529208.1_Missense_Mutation_p.G892R|EPB41L2_ENST00000527659.1_Missense_Mutation_p.G768R|EPB41L2_ENST00000445890.2_Missense_Mutation_p.G704R|EPB41L2_ENST00000524581.1_Missense_Mutation_p.G340R|EPB41L2_ENST00000392427.3_Missense_Mutation_p.G630R|EPB41L2_ENST00000528282.1_Missense_Mutation_p.G704R|EPB41L2_ENST00000530481.1_Missense_Mutation_p.G809R|EPB41L2_ENST00000525271.1_Missense_Mutation_p.G630R|EPB41L2_ENST00000525193.1_Missense_Mutation_p.G663R	NM_001431.3	NP_001422.1	O43491	E41L2_HUMAN	erythrocyte membrane protein band 4.1-like 2	962	C-terminal (CTD).				cortical actin cytoskeleton organization (GO:0030866)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|spectrin (GO:0008091)	structural molecule activity (GO:0005198)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(23)|prostate(1)|skin(2)	44	Breast(56;0.0639)			OV - Ovarian serous cystadenocarcinoma(155;0.0271)|GBM - Glioblastoma multiforme(226;0.0355)		TCTCCATCTCCTGTGATCACA	0.363																																						ENST00000337057.3																			0				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(23)|prostate(1)|skin(2)	44						c.(2884-2886)Gga>Aga		erythrocyte membrane protein band 4.1-like 2							184	148	160					6																	131184804		2203	4300	6503	SO:0001583	missense	2037				cortical actin cytoskeleton organization	extrinsic to membrane|plasma membrane|spectrin	actin binding|structural molecule activity	g.chr6:131184804C>T	AF027299	CCDS5141.1, CCDS47474.1, CCDS56450.1, CCDS59037.1	6q23	2008-08-29			ENSG00000079819	ENSG00000079819			3379	protein-coding gene	gene with protein product		603237				9598318, 9828140	Standard	NM_001431		Approved	4.1-G	uc003qch.2	O43491	OTTHUMG00000015560	ENST00000337057.3:c.2884G>A	6.37:g.131184804C>T	ENSP00000338481:p.Gly962Arg					EPB41L2_ENST00000368128.2_Missense_Mutation_p.G962R|EPB41L2_ENST00000528282.1_Missense_Mutation_p.G704R|EPB41L2_ENST00000524581.1_Missense_Mutation_p.G340R|EPB41L2_ENST00000445890.2_Missense_Mutation_p.G704R|EPB41L2_ENST00000525193.1_Missense_Mutation_p.G663R|EPB41L2_ENST00000527411.1_Missense_Mutation_p.G892R|EPB41L2_ENST00000527659.1_Missense_Mutation_p.G768R|EPB41L2_ENST00000525271.1_Missense_Mutation_p.G630R|EPB41L2_ENST00000392427.3_Missense_Mutation_p.G630R|EPB41L2_ENST00000530481.1_Missense_Mutation_p.G809R|EPB41L2_ENST00000529208.1_Missense_Mutation_p.G892R|EPB41L2_ENST00000531410.1_Missense_Mutation_p.G83R|EPB41L2_ENST00000530757.1_Missense_Mutation_p.G158R	p.G962R	NM_001431.3	NP_001422.1	O43491	E41L2_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.0271)|GBM - Glioblastoma multiforme(226;0.0355)	18	3065	-	Breast(56;0.0639)		962			Carboxyl-terminal (CTD).		B4DHI8|E9PPD9|Q5T4F0|Q68DV2	Missense_Mutation	SNP	ENST00000337057.3	37	c.2884G>A	CCDS5141.1	.	.	.	.	.	.	.	.	.	.	C	32	5.144946	0.94603	.	.	ENSG00000079819	ENST00000531410;ENST00000528282;ENST00000530481;ENST00000445890;ENST00000337057;ENST00000530757;ENST00000392427;ENST00000368128;ENST00000527411;ENST00000524581;ENST00000525271;ENST00000525193;ENST00000527659;ENST00000529208;ENST00000527017	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.88664	-2.41;-2.41;-2.41;-2.41;-2.41;-2.41;-2.41;-2.41;-2.41;-2.41;-2.41;-2.41;-2.41;-2.41;-2.41	6.0	6.0	0.97389	Band 4.1, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.95500	0.8538	M	0.89095	3.005	0.80722	D	1	D;P;D;D;D;D	0.89917	1.0;0.774;1.0;1.0;1.0;1.0	D;P;D;D;D;D	0.97110	1.0;0.53;1.0;0.999;1.0;1.0	D	0.95253	0.8361	10	0.87932	D	0	.	20.4949	0.99206	0.0:1.0:0.0:0.0	.	630;809;962;704;340;129	B4DHI8;E9PPD9;O43491;Q68DV2;Q6R5J7;Q9UG62	.;.;E41L2_HUMAN;.;.;.	R	83;704;809;704;962;158;630;962;892;340;630;663;768;892;226	ENSP00000434596:G83R;ENSP00000434308:G704R;ENSP00000434576:G809R;ENSP00000402041:G704R;ENSP00000338481:G962R;ENSP00000436349:G158R;ENSP00000376222:G630R;ENSP00000357110:G962R;ENSP00000436348:G892R;ENSP00000437207:G340R;ENSP00000432803:G630R;ENSP00000431988:G663R;ENSP00000431647:G768R;ENSP00000436641:G892R;ENSP00000432949:G226R	ENSP00000338481:G962R	G	-	1	0	EPB41L2	131226497	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.445000	0.80570	2.848000	0.98002	0.655000	0.94253	GGA		0.363	EPB41L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042204.3			7	23	0	0	0	1	0	7	23					T	131184804	C	T	131184804	3	4	115	1	0	0	0	0	1	0	0	0	5153	690	24	3	141	3	EPB41L2	6	131184804	Missense_Mutation	SNP	C	TCGA-EJ-A46G-01A-31D-A26M-08	14139277	131184804	39930263	30	6149											
SLC39A14	23516	broad.mit.edu	37	chr8	22275306	22275306	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tctgccaactggatttttgcGctagctggaggaatgttctt	7	15	11	8	1	2	0	0	0	2	0	2	3	2	3	1	3	4	3	1	3	3	5	rs113562598	byFrequency	TCGA-EJ-A46G-01A-31D-A26M-08	TCGA-EJ-A46G-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc5e0ab-5177-49f7-8b17-e7782996202d	4f11c4f9-f9a5-424a-b0cb-8bf2f444e04a	g.chr8:22275306G>A	ENST00000381237.1	+	8	1409	c.1290G>A	c.(1288-1290)gcG>gcA	p.A430A	SLC39A14_ENST00000289952.5_Silent_p.A430A|SLC39A14_ENST00000240095.6_Silent_p.A430A|SLC39A14_ENST00000359741.5_Silent_p.A430A	NM_001128431.2	NP_001121903.1	Q15043	S39AE_HUMAN	solute carrier family 39 (zinc transporter), member 14	430					cellular zinc ion homeostasis (GO:0006882)|transmembrane transport (GO:0055085)|zinc ion transmembrane import (GO:0071578)|zinc ion transmembrane transport (GO:0071577)	cell projection (GO:0042995)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ferrous iron transmembrane transporter activity (GO:0015093)|zinc ion transmembrane transporter activity (GO:0005385)			NS(1)|endometrium(4)|large_intestine(2)|lung(4)|prostate(1)	12				Colorectal(74;0.019)|COAD - Colon adenocarcinoma(73;0.0731)		GGATTTTTGCGCTAGCTGGAG	0.512																																						ENST00000381237.1																			0				NS(1)|endometrium(4)|large_intestine(2)|lung(4)|prostate(1)	12						c.(1288-1290)gcG>gcA		solute carrier family 39 (zinc transporter), member 14							111	96	101					8																	22275306		2203	4300	6503	SO:0001819	synonymous_variant	23516					endoplasmic reticulum|Golgi apparatus|integral to membrane|lamellipodium|plasma membrane	zinc ion transmembrane transporter activity	g.chr8:22275306G>A	D31887	CCDS6030.1, CCDS47822.1, CCDS47823.1	8p21.2	2013-05-22			ENSG00000104635	ENSG00000104635		"Solute carriers"	20858	protein-coding gene	gene with protein product		608736	"solute carrier family 39 (metal ion transporter), member 14"			12659941	Standard	NM_015359		Approved	KIAA0062, NET34, ZIP14	uc011kzh.2	Q15043	OTTHUMG00000097791	ENST00000381237.1:c.1290G>A	8.37:g.22275306G>A						SLC39A14_ENST00000240095.6_Silent_p.A430A|SLC39A14_ENST00000359741.5_Silent_p.A430A|SLC39A14_ENST00000289952.5_Silent_p.A430A	p.A430A	NM_001128431.2	NP_001121903.1	Q15043	S39AE_HUMAN		Colorectal(74;0.019)|COAD - Colon adenocarcinoma(73;0.0731)	8	1409	+			430					A6NH98|B4DIW3|B6EU88|D3DSR4|Q6ZME8|Q96BB3	Silent	SNP	ENST00000381237.1	37	c.1290G>A	CCDS47823.1																																																																																				0.512	SLC39A14-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000215039.2	XM_046677		3	36	0	0	0	1	0	3	36					A	22275306	G	A	22275306	2	1	115	1	0	0	0	0	0	0	0	1	14617	1074	38	1		1	SLC39A14	8	22275306	Silent	SNP	G	TCGA-EJ-A46G-01A-31D-A26M-08		22275306	124088716	31	6150											
CHRNA6	8973	broad.mit.edu	37	chr8	42611140	42611140	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcttgtggcaagctcatttGatttgtgacaatggaagcat	10	14	11	6	0	1	2	1	2	0	0	1	3	1	3	0	2	3	4	0	2	3	3			TCGA-EJ-A46G-01A-31D-A26M-08	TCGA-EJ-A46G-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc5e0ab-5177-49f7-8b17-e7782996202d	4f11c4f9-f9a5-424a-b0cb-8bf2f444e04a	g.chr8:42611140G>T	ENST00000276410.2	-	5	1557	c.1202C>A	c.(1201-1203)tCa>tAa	p.S401*	CHRNA6_ENST00000534622.1_Nonsense_Mutation_p.S386*|CHRNA6_ENST00000530869.1_5'Flank	NM_004198.3	NP_004189.1	Q15825	ACHA6_HUMAN	cholinergic receptor, nicotinic, alpha 6 (neuronal)	401					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|membrane depolarization (GO:0051899)|regulation of dopamine secretion (GO:0014059)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transport (GO:0006810)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)			endometrium(2)|large_intestine(3)|liver(1)|lung(15)|ovary(1)	22	all_lung(13;3.33e-12)|Lung NSC(13;9.17e-11)|Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00439)|Lung NSC(58;0.0124)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	Lung(22;0.0252)|LUSC - Lung squamous cell carcinoma(45;0.0869)		Galantamine(DB00674)|Nicotine(DB00184)|Varenicline(DB01273)	AAGCTCATTTGATTTGTGACA	0.488																																						ENST00000276410.2																			0				endometrium(2)|large_intestine(3)|liver(1)|lung(15)|ovary(1)	22						c.(1201-1203)tCa>tAa		cholinergic receptor, nicotinic, alpha 6 (neuronal)							158	137	144					8																	42611140		2203	4300	6503	SO:0001587	stop_gained	8973					cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity	g.chr8:42611140G>T	U62435	CCDS6135.1, CCDS56536.1	8p22	2012-02-11	2012-02-07					"Cholinergic receptors", "Ligand-gated ion channels / Acetylcholine receptors, nicotinic"	15963	protein-coding gene	gene with protein product	"acetylcholine receptor, nicotinic, alpha 6 (neuronal)"	606888	"cholinergic receptor, nicotinic, alpha polypeptide 6"			8906617	Standard	NM_004198		Approved		uc003xpj.3	Q15825		ENST00000276410.2:c.1202C>A	8.37:g.42611140G>T	ENSP00000276410:p.Ser401*					CHRNA6_ENST00000534622.1_Nonsense_Mutation_p.S386*	p.S401*	NM_004198.3	NP_004189.1	Q15825	ACHA6_HUMAN	Lung(22;0.0252)|LUSC - Lung squamous cell carcinoma(45;0.0869)		5	1557	-	all_lung(13;3.33e-12)|Lung NSC(13;9.17e-11)|Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00439)|Lung NSC(58;0.0124)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	401					B2R8V4|B4DQH1	Nonsense_Mutation	SNP	ENST00000276410.2	37	c.1202C>A	CCDS6135.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.186381	0.78789	.	.	ENSG00000147434	ENST00000276410;ENST00000534622	.	.	.	6.07	6.07	0.98685	.	1.007900	0.07967	N	0.983278	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	20.6439	0.99570	0.0:0.0:1.0:0.0	.	.	.	.	X	401;386	.	ENSP00000276410:S401X	S	-	2	0	CHRNA6	42730297	0.033000	0.19621	0.012000	0.15200	0.022000	0.10575	2.172000	0.42463	2.884000	0.98904	0.655000	0.94253	TCA		0.488	CHRNA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383156.1			21	26	1	0	3.5997e-14	1	4.39444e-14	21	26					T	42611140	G	T	42611140	4	4	115	1	0	0	0	0	0	1	0	0	3387	1294	45	5	290	5	CHRNA6	8	42611140	Nonsense_Mutation	SNP	G	TCGA-EJ-A46G-01A-31D-A26M-08	20335834	42611140	103752882	32	6151											
PRKDC	5591	broad.mit.edu	37	chr8	48691160	48691160	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatcagagcgtgagagctggCgaagtgggagcggagcgcca	10	5	18	8	4	1	2	1	1	0	2	1	6	1	4	1	3	4	1	1	3	2	1			TCGA-EJ-A46G-01A-31D-A26M-08	TCGA-EJ-A46G-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc5e0ab-5177-49f7-8b17-e7782996202d	4f11c4f9-f9a5-424a-b0cb-8bf2f444e04a	g.chr8:48691160C>T	ENST00000314191.2	-	84	11766	c.11710G>A	c.(11710-11712)Gcc>Acc	p.A3904T	PRKDC_ENST00000523565.1_5'UTR|PRKDC_ENST00000338368.3_Missense_Mutation_p.A3873T	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	3905	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.				B cell lineage commitment (GO:0002326)|brain development (GO:0007420)|cellular protein modification process (GO:0006464)|cellular response to insulin stimulus (GO:0032869)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|ectopic germ cell programmed cell death (GO:0035234)|heart development (GO:0007507)|immunoglobulin V(D)J recombination (GO:0033152)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of protein phosphorylation (GO:0001933)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|pro-B cell differentiation (GO:0002328)|protein destabilization (GO:0031648)|regulation of circadian rhythm (GO:0042752)|response to gamma radiation (GO:0010332)|rhythmic process (GO:0048511)|signal transduction involved in mitotic G1 DNA damage checkpoint (GO:0072431)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell receptor V(D)J recombination (GO:0033153)|telomere maintenance (GO:0000723)	cytosol (GO:0005829)|DNA-dependent protein kinase-DNA ligase 4 complex (GO:0005958)|membrane (GO:0016020)|nonhomologous end joining complex (GO:0070419)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transcription factor binding (GO:0008134)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)			Caffeine(DB00201)	TGAGAGCTGGCGAAGTGGGAG	0.572								Non-homologous end-joining																													Esophageal Squamous(79;1091 1253 12329 31680 40677)	ENST00000314191.2																			0				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147						c.(11710-11712)Gcc>Acc	Non-homologous end-joining	protein kinase, DNA-activated, catalytic polypeptide							35	36	36					8																	48691160		2021	4179	6200	SO:0001583	missense	5591				cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding	g.chr8:48691160C>T		CCDS75734.1, CCDS75735.1	8q11	2014-09-17				ENSG00000253729	2.7.11.1		9413	protein-coding gene	gene with protein product		600899		HYRC, HYRC1		7638222	Standard	NM_001081640		Approved	DNPK1, p350, DNAPK, XRCC7, DNA-PKcs	uc003xqi.3	P78527		ENST00000314191.2:c.11710G>A	8.37:g.48691160C>T	ENSP00000313420:p.Ala3904Thr					PRKDC_ENST00000523565.1_5'UTR|PRKDC_ENST00000338368.3_Missense_Mutation_p.A3873T	p.A3904T	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN			84	11766	-		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)	3905			PI3K/PI4K.		P78528|Q13327|Q13337|Q14175|Q59H99|Q7Z611|Q96SE6|Q9UME3	Missense_Mutation	SNP	ENST00000314191.2	37	c.11710G>A		.	.	.	.	.	.	.	.	.	.	C	10.25	1.298990	0.23650	.	.	ENSG00000253729	ENST00000314191;ENST00000338368	T;T	0.80123	-1.34;-1.34	5.52	3.69	0.42338	Protein kinase-like domain (1);Phosphatidylinositol 3-/4-kinase, catalytic (4);	0.398816	0.30455	N	0.009600	T	0.63141	0.2486	N	0.11255	0.115	0.33112	D	0.540713	B;B	0.22746	0.074;0.033	B;B	0.30716	0.119;0.089	T	0.59894	-0.7368	10	0.13108	T	0.6	.	10.4438	0.44481	0.1343:0.7962:0.0:0.0695	.	3873;3905	E7EUY0;P78527	.;PRKDC_HUMAN	T	3904;3873	ENSP00000313420:A3904T;ENSP00000345182:A3873T	ENSP00000313420:A3904T	A	-	1	0	PRKDC	48853713	0.805000	0.28982	0.006000	0.13384	0.133000	0.20885	1.036000	0.30228	0.658000	0.30925	0.655000	0.94253	GCC		0.572	PRKDC-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001081640		7	11	0	0	0	1	0	7	11					T	48691160	C	T	48691160	3	4	115	1	0	0	0	0	1	0	0	0	12521	768	27	1	689	1	PRKDC	8	48691160	Missense_Mutation	SNP	C	TCGA-EJ-A46G-01A-31D-A26M-08	6080020	48691160	97672862	33	6152											
CLVS1	157807	broad.mit.edu	37	chr8	62212502	62212502	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agagactatagagaaagctcGcctggaactgaatgaaaacc	17	6	10	8	1	0	4	0	2	0	2	1	7	0	5	2	1	3	1	2	1	7	2	rs187032551	byFrequency	TCGA-EJ-A46G-01A-31D-A26M-08	TCGA-EJ-A46G-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc5e0ab-5177-49f7-8b17-e7782996202d	4f11c4f9-f9a5-424a-b0cb-8bf2f444e04a	g.chr8:62212502G>A	ENST00000519846.1	+	3	588	c.116G>A	c.(115-117)cGc>cAc	p.R39H	CLVS1_ENST00000325897.4_Missense_Mutation_p.R39H|CLVS1_ENST00000518592.1_Intron|RP11-787D18.1_ENST00000518064.1_RNA|RP11-787D18.1_ENST00000521801.1_RNA			Q8IUQ0	CLVS1_HUMAN	clavesin 1	39					lysosome organization (GO:0007040)	clathrin-coated vesicle (GO:0030136)|endosome (GO:0005768)|membrane (GO:0016020)|trans-Golgi network (GO:0005802)	phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|transporter activity (GO:0005215)			endometrium(3)|kidney(4)|large_intestine(4)|lung(21)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						GAGAAAGCTCGCCTGGAACTG	0.433													G|||	2	0.000399361	0	0	5008	,	,		19602	0		0.002	False		,,,				2504	0					ENST00000519846.1																			0				endometrium(3)|kidney(4)|large_intestine(4)|lung(21)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						c.(115-117)cGc>cAc		clavesin 1							81	75	77					8																	62212502		2203	4300	6503	SO:0001583	missense	157807				lysosome organization	clathrin-coated vesicle|early endosome membrane|trans-Golgi network	phosphatidylinositol-3,5-bisphosphate binding|transporter activity	g.chr8:62212502G>A	AY094971	CCDS6176.1	8q12.1	2009-10-14	2009-10-14	2009-10-14		ENSG00000177182			23139	protein-coding gene	gene with protein product		611292	"retinaldehyde binding protein 1-like 1"	RLBP1L1		16802092, 19651769	Standard	NM_173519		Approved	MGC34646, CRALBPL, C6orf212L	uc003xuh.3	Q8IUQ0		ENST00000519846.1:c.116G>A	8.37:g.62212502G>A	ENSP00000428402:p.Arg39His					CLVS1_ENST00000325897.4_Missense_Mutation_p.R39H|CLVS1_ENST00000518592.1_Intron	p.R39H			Q8IUQ0	CLVS1_HUMAN			3	588	+			39					B2R7M5|C8UZT3|Q8NB32	Missense_Mutation	SNP	ENST00000519846.1	37	c.116G>A	CCDS6176.1	2	9.157509157509158E-4	0	0.0	0	0.0	0	0.0	2	0.002638522427440633	G	22.1	4.238068	0.79800	.	.	ENSG00000177182	ENST00000522621;ENST00000519846;ENST00000325897	T;T	0.80653	-1.4;-1.4	5.79	5.79	0.91817	Phosphatidylinositol transfer protein-like, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.88905	0.6564	M	0.68728	2.09	0.51482	D	0.99992	D;D;D	0.89917	1.0;0.995;0.999	D;D;P	0.67103	0.949;0.91;0.868	D	0.88451	0.3049	10	0.56958	D	0.05	-1.6018	20.0313	0.97540	0.0:0.0:1.0:0.0	.	39;39;39	E5RK22;Q8IUQ0;Q8IUQ0-2	.;CLVS1_HUMAN;.	H	39	ENSP00000428402:R39H;ENSP00000325506:R39H	ENSP00000325506:R39H	R	+	2	0	CLVS1	62375056	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	3.772000	0.55325	2.746000	0.94184	0.655000	0.94253	CGC		0.433	CLVS1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378323.1	NM_173519		12	31	0	0	0	1	0	12	31					A	62212502	G	A	62212502	3	1	115	1	0	0	0	0	1	0	0	0	3571	1087	38	1	118	1	CLVS1	8	62212502	Missense_Mutation	SNP	G	TCGA-EJ-A46G-01A-31D-A26M-08	13521342	62212502	84151520	34	6153											
ZFHX4	79776	broad.mit.edu	37	chr8	77617577	77617577	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tctagtttagtagtgaacacCccaattacctctgtctccct	9	14	5	13	0	3	1	0	1	3	0	4	1	3	1	4	0	2	2	4	0	6	5			TCGA-EJ-A46G-01A-31D-A26M-08	TCGA-EJ-A46G-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc5e0ab-5177-49f7-8b17-e7782996202d	4f11c4f9-f9a5-424a-b0cb-8bf2f444e04a	g.chr8:77617577C>A	ENST00000521891.2	+	2	1702	c.1254C>A	c.(1252-1254)acC>acA	p.T418T	ZFHX4_ENST00000517683.1_Intron|ZFHX4_ENST00000518282.1_Silent_p.T418T|ZFHX4_ENST00000050961.6_Silent_p.T418T|ZFHX4_ENST00000455469.2_Silent_p.T418T	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	418					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			TAGTGAACACCCCAATTACCT	0.522										HNSCC(33;0.089)																												ENST00000521891.2																			0				NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432						c.(1252-1254)acC>acA		zinc finger homeobox 4							40	38	38					8																	77617577		1926	4158	6084	SO:0001819	synonymous_variant	79776					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:77617577C>A		CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"Homeoboxes / ZF class"	30939	protein-coding gene	gene with protein product		606940	"zinc finger homeodomain 4"			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.1254C>A	8.37:g.77617577C>A		HNSCC(33;0.089)				ZFHX4_ENST00000518282.1_Silent_p.T418T|ZFHX4_ENST00000050961.6_Silent_p.T418T|ZFHX4_ENST00000517683.1_Intron|ZFHX4_ENST00000455469.2_Silent_p.T418T	p.T418T	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.0895)		2	1702	+			418					G3V138|Q18PS0|Q6ZN20	Silent	SNP	ENST00000521891.2	37	c.1254C>A	CCDS47878.2																																																																																				0.522	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	NM_024721		9	20	1	0	0.361761	1	0.365651	9	20					A	77617577	C	A	77617577	2	1	115	1	0	0	0	0	0	0	0	1	17632	610	22	5		5	ZFHX4	8	77617577	Silent	SNP	C	TCGA-EJ-A46G-01A-31D-A26M-08	15405075	77617577	68746445	35	6154											
ADCY8	114	broad.mit.edu	37	chr8	132051761	132051761	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcgaagagcgtgaagagcacGtagcctatgccgtcgcccag	10	5	14	12	5	0	3	0	1	0	2	1	4	0	3	3	0	4	2	3	0	4	2			TCGA-EJ-A46G-01A-31D-A26M-08	TCGA-EJ-A46G-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc5e0ab-5177-49f7-8b17-e7782996202d	4f11c4f9-f9a5-424a-b0cb-8bf2f444e04a	g.chr8:132051761G>A	ENST00000286355.5	-	1	2911	c.819C>T	c.(817-819)taC>taT	p.Y273Y	ADCY8_ENST00000377928.3_Silent_p.Y273Y	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	273					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|learning or memory (GO:0007611)|long-term memory (GO:0007616)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			TGAAGAGCACGTAGCCTATGC	0.672										HNSCC(32;0.087)																												ENST00000286355.5																			0				NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						c.(817-819)taC>taT		adenylate cyclase 8 (brain)							49	45	47					8																	132051761		2203	4299	6502	SO:0001819	synonymous_variant	114				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding	g.chr8:132051761G>A	Z35309	CCDS6363.1	8q24	2013-02-04			ENSG00000155897	ENSG00000155897	4.6.1.1	"Adenylate cyclases"	239	protein-coding gene	gene with protein product		103070		ADCY3		8076676	Standard	NM_001115		Approved	HBAC1, AC8	uc003ytd.4	P40145	OTTHUMG00000164756	ENST00000286355.5:c.819C>T	8.37:g.132051761G>A		HNSCC(32;0.087)				ADCY8_ENST00000377928.3_Silent_p.Y273Y	p.Y273Y	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000538)		1	2911	-	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		273						Silent	SNP	ENST00000286355.5	37	c.819C>T	CCDS6363.1																																																																																				0.672	ADCY8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380080.1			13	45	0	0	0	1	0	13	45					A	132051761	G	A	132051761	2	1	115	1	0	0	0	0	0	0	0	1	300	1140	40	1		1	ADCY8	8	132051761	Silent	SNP	G	TCGA-EJ-A46G-01A-31D-A26M-08	54434184	132051761	14312261	36	6155											
OR1K1	392392	broad.mit.edu	37	chr9	125562551	125562551	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	ggactcattgtggctgccatCcaggccagtccagcccttca	7	9	10	15	0	2	0	2	0	0	0	4	1	4	1	5	3	2	1	5	3	0	2			TCGA-EJ-A46G-01A-31D-A26M-08	TCGA-EJ-A46G-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc5e0ab-5177-49f7-8b17-e7782996202d	4f11c4f9-f9a5-424a-b0cb-8bf2f444e04a	g.chr9:125562551C>G	ENST00000277309.2	+	1	182	c.150C>G	c.(148-150)atC>atG	p.I50M		NM_080859.1	NP_543135.1	Q8NGR3	OR1K1_HUMAN	olfactory receptor, family 1, subfamily K, member 1	50						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|large_intestine(8)|lung(2)|ovary(1)|skin(4)|stomach(1)	17						TGGCTGCCATCCAGGCCAGTC	0.572																																						ENST00000277309.2																			0				endometrium(1)|large_intestine(8)|lung(2)|ovary(1)|skin(4)|stomach(1)	17						c.(148-150)atC>atG		olfactory receptor, family 1, subfamily K, member 1							136	96	109					9																	125562551		2203	4300	6503	SO:0001583	missense	0				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:125562551C>G	AL359512	CCDS35132.1	9q33	2013-09-20			ENSG00000165204	ENSG00000165204		"GPCR / Class A : Olfactory receptors"	8212	protein-coding gene	gene with protein product							Standard	NM_080859		Approved	hg99, MNAB	uc011lze.2	Q8NGR3	OTTHUMG00000020625	ENST00000277309.2:c.150C>G	9.37:g.125562551C>G	ENSP00000277309:p.Ile50Met						p.I50M	NM_080859.1	NP_543135.1	Q8NGR3	OR1K1_HUMAN			1	182	+			50					B9EH41|Q4VXB7|Q96R23	Missense_Mutation	SNP	ENST00000277309.2	37	c.150C>G	CCDS35132.1	.	.	.	.	.	.	.	.	.	.	C	11.82	1.751458	0.31046	.	.	ENSG00000165204	ENST00000277309	T	0.08458	3.09	4.47	1.57	0.23409	GPCR, rhodopsin-like superfamily (1);	0.204225	0.23957	U	0.042886	T	0.28366	0.0701	M	0.91196	3.185	0.09310	N	1	D	0.89917	1.0	D	0.75020	0.985	T	0.10405	-1.0631	10	0.87932	D	0	.	4.3094	0.10964	0.159:0.5804:0.0:0.2607	.	50	Q8NGR3	OR1K1_HUMAN	M	50	ENSP00000277309:I50M	ENSP00000277309:I50M	I	+	3	3	OR1K1	124602372	0.000000	0.05858	0.011000	0.14972	0.554000	0.35429	-1.346000	0.02634	0.138000	0.18790	0.655000	0.94253	ATC		0.572	OR1K1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053958.1			7	44	0	0	0	1	0	7	44					G	125562551	C	G	125562551	3	3	115	1	0	0	0	0	1	0	0	0	10962	845	30	5	152	5	OR1K1	9	125562551	Missense_Mutation	SNP	C	TCGA-EJ-A46G-01A-31D-A26M-08		125562551	15650880	37	6156											
OR52M1	119772	broad.mit.edu	37	chr11	4566999	4566999	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtagttgccttgacatgtggCgacagcagggtcaataatgt	10	11	13	7	1	1	1	1	1	0	0	1	2	1	1	1	2	2	3	1	2	3	4	rs377446192		TCGA-EJ-A46G-01A-31D-A26M-08	TCGA-EJ-A46G-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc5e0ab-5177-49f7-8b17-e7782996202d	4f11c4f9-f9a5-424a-b0cb-8bf2f444e04a	g.chr11:4566999C>T	ENST00000360213.1	+	1	579	c.579C>T	c.(577-579)ggC>ggT	p.G193G		NM_001004137.1	NP_001004137.1	Q8NGK5	O52M1_HUMAN	olfactory receptor, family 52, subfamily M, member 1	193						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|large_intestine(2)|lung(9)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	18		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		TGACATGTGGCGACAGCAGGG	0.512																																						ENST00000360213.1																			0				endometrium(2)|large_intestine(2)|lung(9)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	18						c.(577-579)ggC>ggT		olfactory receptor, family 52, subfamily M, member 1		T		0,4402		0,0,2201	206	193	197		579	-3.6	0.9	11		197	1,8595	1.2+/-3.3	0,1,4297	no	coding-synonymous	OR52M1	NM_001004137.1		0,1,6498	TT,TC,CC		0.0116,0.0,0.0077		193/318	4566999	1,12997	2201	4298	6499	SO:0001819	synonymous_variant	119772				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4566999C>T	AB065789	CCDS31353.1	11p15.4	2012-08-09	2002-11-13	2002-11-15	ENSG00000197790	ENSG00000197790		"GPCR / Class A : Olfactory receptors"	15225	protein-coding gene	gene with protein product			"olfactory receptor, family 52, subfamily M, member 1 pseudogene"	OR52M1P			Standard	NM_001004137		Approved		uc010qyf.2	Q8NGK5	OTTHUMG00000165706	ENST00000360213.1:c.579C>T	11.37:g.4566999C>T							p.G193G	NM_001004137.1	NP_001004137.1	Q8NGK5	O52M1_HUMAN		Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)	1	579	+		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)	193						Silent	SNP	ENST00000360213.1	37	c.579C>T	CCDS31353.1																																																																																				0.512	OR52M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385847.1	NM_001004137		40	63	0	0	0	1	0	40	63					T	4566999	C	T	4566999	2	4	115	1	0	0	0	0	0	0	0	1	11126	755	27	1		1	OR52M1	11	4566999	Silent	SNP	C	TCGA-EJ-A46G-01A-31D-A26M-08		4566999	130439517	38	6157											
MMP26	56547	broad.mit.edu	37	chr11	5009509	5009509	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cgccgttccagtgccccctgCtgcagaccataaaggatggg	8	7	12	14	2	0	1	0	0	0	1	1	2	1	2	5	2	3	3	5	2	2	2			TCGA-EJ-A46G-01A-31D-A26M-08	TCGA-EJ-A46G-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc5e0ab-5177-49f7-8b17-e7782996202d	4f11c4f9-f9a5-424a-b0cb-8bf2f444e04a	g.chr11:5009509C>A	ENST00000380390.1	+	2	284	c.68C>A	c.(67-69)gCt>gAt	p.A23D	MMP26_ENST00000300762.1_Missense_Mutation_p.A23D|MMP26_ENST00000477339.1_3'UTR			Q9NRE1	MMP26_HUMAN	matrix metallopeptidase 26	23					collagen catabolic process (GO:0030574)|proteolysis (GO:0006508)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(11)|pancreas(1)|skin(3)|stomach(1)	22		Medulloblastoma(188;0.0025)|Breast(177;0.0204)|all_neural(188;0.0227)		Epithelial(150;1.33e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0287)|LUSC - Lung squamous cell carcinoma(625;0.191)	Marimastat(DB00786)	GTGCCCCCTGCTGCAGACCAT	0.488																																						ENST00000380390.1																			0				breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(11)|pancreas(1)|skin(3)|stomach(1)	22						c.(67-69)gCt>gAt		matrix metallopeptidase 26							244	197	213					11																	5009509		2201	4298	6499	SO:0001583	missense	56547				collagen catabolic process|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr11:5009509C>A	AF230354	CCDS7752.1	11p15	2008-07-18	2005-08-08		ENSG00000167346	ENSG00000167346	3.4.24.1		14249	protein-coding gene	gene with protein product	"matrilysin 2"	605470	"matrix metalloproteinase 26"			10801841, 10824119	Standard	NM_021801		Approved	endometase, MGC126590, MGC126592	uc001lzv.3	Q9NRE1	OTTHUMG00000066442	ENST00000380390.1:c.68C>A	11.37:g.5009509C>A	ENSP00000369753:p.Ala23Asp					MMP26_ENST00000477339.1_3'UTR|MMP26_ENST00000300762.1_Missense_Mutation_p.A23D	p.A23D			Q9NRE1	MMP26_HUMAN		Epithelial(150;1.33e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0287)|LUSC - Lung squamous cell carcinoma(625;0.191)	2	284	+		Medulloblastoma(188;0.0025)|Breast(177;0.0204)|all_neural(188;0.0227)	23					Q3MJ78|Q9GZS2|Q9NR87	Missense_Mutation	SNP	ENST00000380390.1	37	c.68C>A	CCDS7752.1	.	.	.	.	.	.	.	.	.	.	c	6.316	0.426340	0.11987	.	.	ENSG00000167346	ENST00000380390;ENST00000300762	T;T	0.37411	1.2;1.2	3.3	-1.23	0.09465	.	1.384170	0.05100	N	0.486951	T	0.22205	0.0535	L	0.31065	0.9	0.09310	N	1	B	0.10296	0.003	B	0.09377	0.004	T	0.17684	-1.0361	10	0.12103	T	0.63	-0.0854	4.7128	0.12880	0.5555:0.3292:0.0:0.1152	.	23	Q9NRE1	MMP26_HUMAN	D	23	ENSP00000369753:A23D;ENSP00000300762:A23D	ENSP00000300762:A23D	A	+	2	0	MMP26	4966085	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.791000	0.04599	-0.039000	0.13602	-0.771000	0.03389	GCT		0.488	MMP26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142058.3	NM_021801		34	45	1	0	5.43694e-19	1	6.72463e-19	34	45					A	5009509	C	A	5009509	3	1	115	1	0	0	0	0	1	0	0	0	9663	797	28	5	70	5	MMP26	11	5009509	Missense_Mutation	SNP	C	TCGA-EJ-A46G-01A-31D-A26M-08	442510	5009509	129997007	39	6158											
OR52A5	390054	broad.mit.edu	37	chr11	5153061	5153061	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggatatgaatatatggtggtAtgtgtgaaccaaacctgtgt	12	13	12	4	0	0	2	0	2	0	0	0	3	0	3	2	3	2	1	2	3	7	4			TCGA-EJ-A46G-01A-31D-A26M-08	TCGA-EJ-A46G-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc5e0ab-5177-49f7-8b17-e7782996202d	4f11c4f9-f9a5-424a-b0cb-8bf2f444e04a	g.chr11:5153061A>G	ENST00000307388.1	-	1	811	c.812T>C	c.(811-813)aTa>aCa	p.I271T		NM_001005160.2	NP_001005160.1	Q9H2C5	O52A5_HUMAN	olfactory receptor, family 52, subfamily A, member 5	271					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(18)|skin(3)	35		Medulloblastoma(188;0.0049)|all_neural(188;0.0442)|Breast(177;0.0675)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.2)		ATATGGTGGTATGTGTGAACC	0.408																																						ENST00000307388.1																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(18)|skin(3)	35						c.(811-813)aTa>aCa		olfactory receptor, family 52, subfamily A, member 5							158	149	152					11																	5153061		2201	4298	6499	SO:0001583	missense	390054				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5153061A>G	BK004433	CCDS31373.1	11p15.4	2012-08-09			ENSG00000171944	ENSG00000171944		"GPCR / Class A : Olfactory receptors"	19580	protein-coding gene	gene with protein product							Standard	NM_001005160		Approved		uc010qyx.2	Q9H2C5	OTTHUMG00000066616	ENST00000307388.1:c.812T>C	11.37:g.5153061A>G	ENSP00000303469:p.Ile271Thr						p.I271T	NM_001005160.2	NP_001005160.1	Q9H2C5	O52A5_HUMAN		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.2)	1	811	-		Medulloblastoma(188;0.0049)|all_neural(188;0.0442)|Breast(177;0.0675)	271						Missense_Mutation	SNP	ENST00000307388.1	37	c.812T>C	CCDS31373.1	.	.	.	.	.	.	.	.	.	.	A	9.342	1.063206	0.19987	.	.	ENSG00000171944	ENST00000307388	T	0.00164	8.64	5.22	5.22	0.72569	GPCR, rhodopsin-like superfamily (1);	0.000000	0.52532	D	0.000063	T	0.00328	0.0010	M	0.64567	1.98	0.09310	N	0.999996	D	0.60575	0.988	P	0.62560	0.904	T	0.50923	-0.8770	10	0.87932	D	0	.	8.6738	0.34167	0.9151:0.0:0.0849:0.0	.	271	Q9H2C5	O52A5_HUMAN	T	271	ENSP00000303469:I271T	ENSP00000303469:I271T	I	-	2	0	OR52A5	5109637	0.095000	0.21747	1.000000	0.80357	0.046000	0.14306	3.837000	0.55820	2.186000	0.69663	0.533000	0.62120	ATA		0.408	OR52A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142823.1	NM_001005160		10	36	0	0	0	1	0	10	36					G	5153061	A	G	5153061	3	3	115	1	0	0	0	0	1	0	0	0	11110	449	16	4	141	4	OR52A5	11	5153061	Missense_Mutation	SNP	A	TCGA-EJ-A46G-01A-31D-A26M-08	143552	5153061	129853455	40	6159											
OR4C13	283092	broad.mit.edu	37	chr11	49974168	49974168	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ctttttcctggcctatctctCctttattgatgcctgctatt	4	20	5	12	0	1	1	0	1	1	0	4	1	3	1	4	1	2	1	4	1	3	8			TCGA-EJ-A46G-01A-31D-A26M-08	TCGA-EJ-A46G-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc5e0ab-5177-49f7-8b17-e7782996202d	4f11c4f9-f9a5-424a-b0cb-8bf2f444e04a	g.chr11:49974168C>T	ENST00000555099.1	+	1	226	c.194C>T	c.(193-195)tCc>tTc	p.S65F		NM_001001955.2	NP_001001955.2	Q8NGP0	OR4CD_HUMAN	olfactory receptor, family 4, subfamily C, member 13	65						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	43						GCCTATCTCTCCTTTATTGAT	0.428																																						ENST00000555099.1																			0				autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	43						c.(193-195)tCc>tTc		olfactory receptor, family 4, subfamily C, member 13							241	220	227					11																	49974168		2201	4296	6497	SO:0001583	missense	283092				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:49974168C>T	AB065750	CCDS31495.1	11p11.12	2012-10-03			ENSG00000258817	ENSG00000258817		"GPCR / Class A : Olfactory receptors"	15169	protein-coding gene	gene with protein product							Standard	NM_001001955		Approved		uc010rhz.2	Q8NGP0	OTTHUMG00000166686	ENST00000555099.1:c.194C>T	11.37:g.49974168C>T	ENSP00000452277:p.Ser65Phe						p.S65F	NM_001001955.2	NP_001001955.2	Q8NGP0	OR4CD_HUMAN			1	226	+			65					A6NJJ3|B9EH30|Q6IF48|Q96R68	Missense_Mutation	SNP	ENST00000555099.1	37	c.194C>T	CCDS31495.1	.	.	.	.	.	.	.	.	.	.	.	11.08	1.533137	0.27387	.	.	ENSG00000258817	ENST00000555099	T	0.12361	2.69	2.95	2.95	0.34219	GPCR, rhodopsin-like superfamily (1);	0.000000	0.44483	D	0.000457	T	0.47746	0.1462	H	0.96175	3.78	0.22330	N	0.999192	D	0.89917	1.0	D	0.97110	1.0	T	0.49986	-0.8880	9	.	.	.	.	11.6719	0.51406	0.0:1.0:0.0:0.0	.	65	Q8NGP0	OR4CD_HUMAN	F	65	ENSP00000452277:S65F	.	S	+	2	0	OR4C13	49930744	0.047000	0.20315	0.878000	0.34440	0.071000	0.16799	3.314000	0.51943	1.646000	0.50622	0.195000	0.17529	TCC		0.428	OR4C13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391103.1	NM_001001955		15	126	0	0	0	1	0	15	126					T	49974168	C	T	49974168	3	4	115	1	0	0	0	0	1	0	0	0	11047	855	30	3	196	3	OR4C13	11	49974168	Missense_Mutation	SNP	C	TCGA-EJ-A46G-01A-31D-A26M-08	44821107	49974168	85032348	41	6160											
SPTBN2	6712	broad.mit.edu	37	chr11	66466498	66466498	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caggaaatgctgctgctcccGgttgtcccgaagacggccca	8	7	12	14	3	0	1	0	0	0	1	2	3	2	2	3	3	3	4	3	3	2	1	rs373743022		TCGA-EJ-A46G-01A-31D-A26M-08	TCGA-EJ-A46G-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc5e0ab-5177-49f7-8b17-e7782996202d	4f11c4f9-f9a5-424a-b0cb-8bf2f444e04a	g.chr11:66466498G>A	ENST00000533211.1	-	19	4163	c.3832C>T	c.(3832-3834)Cgg>Tgg	p.R1278W	SPTBN2_ENST00000529997.1_Missense_Mutation_p.R1278W|SPTBN2_ENST00000309996.2_Missense_Mutation_p.R1278W			O15020	SPTN2_HUMAN	spectrin, beta, non-erythrocytic 2	1278					actin filament capping (GO:0051693)|adult behavior (GO:0030534)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon guidance (GO:0007411)|cell death (GO:0008219)|cerebellar Purkinje cell layer morphogenesis (GO:0021692)|multicellular organism growth (GO:0035264)|synapse assembly (GO:0007416)|vesicle-mediated transport (GO:0016192)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular space (GO:0005615)|neuronal cell body (GO:0043025)|spectrin (GO:0008091)	actin binding (GO:0003779)|phospholipid binding (GO:0005543)|structural constituent of cytoskeleton (GO:0005200)			autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	74						TGCTGCTCCCGGTTGTCCCGA	0.537																																						ENST00000533211.1																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	74						c.(3832-3834)Cgg>Tgg		spectrin, beta, non-erythrocytic 2		G	TRP/ARG	1,4399	2.1+/-5.4	0,1,2199	81	78	79		3832	4.7	1	11		79	0,8590		0,0,4295	no	missense	SPTBN2	NM_006946.2	101	0,1,6494	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	1278/2391	66466498	1,12989	2200	4295	6495	SO:0001583	missense	6712				actin filament capping|axon guidance|cell death|vesicle-mediated transport	cytosol|spectrin	actin binding|structural constituent of cytoskeleton	g.chr11:66466498G>A	AB008567, AF026487, AF026488, AF079569	CCDS8150.1	11q13.2	2013-01-10			ENSG00000173898	ENSG00000173898		"Pleckstrin homology (PH) domain containing"	11276	protein-coding gene	gene with protein product		604985	"spinocerebellar ataxia 5"	SCA5		9826670, 16429157	Standard	NM_006946		Approved		uc001ojd.3	O15020	OTTHUMG00000167262	ENST00000533211.1:c.3832C>T	11.37:g.66466498G>A	ENSP00000432568:p.Arg1278Trp					SPTBN2_ENST00000529997.1_Missense_Mutation_p.R1278W|SPTBN2_ENST00000309996.2_Missense_Mutation_p.R1278W	p.R1278W			O15020	SPTN2_HUMAN			19	4163	-			1278					O14872|O14873	Missense_Mutation	SNP	ENST00000533211.1	37	c.3832C>T	CCDS8150.1	.	.	.	.	.	.	.	.	.	.	G	25.2	4.614479	0.87359	2.27E-4	0.0	ENSG00000173898	ENST00000533211;ENST00000309996;ENST00000529997	T;T;T	0.35236	1.32;1.32;1.32	4.7	4.7	0.59300	.	0.076746	0.52532	D	0.000080	T	0.58680	0.2139	M	0.67700	2.07	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.59894	-0.7368	10	0.49607	T	0.09	.	16.5926	0.84770	0.0:0.0:1.0:0.0	.	1278	O15020	SPTN2_HUMAN	W	1278	ENSP00000432568:R1278W;ENSP00000311489:R1278W;ENSP00000433593:R1278W	ENSP00000311489:R1278W	R	-	1	2	SPTBN2	66223074	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.048000	0.41278	2.441000	0.82636	0.655000	0.94253	CGG		0.537	SPTBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393892.2	NM_006946		25	31	0	0	0	1	0	25	31					A	66466498	G	A	66466498	3	1	115	1	0	0	0	0	1	0	0	0	15119	1115	39	2	3420	2	SPTBN2	11	66466498	Missense_Mutation	SNP	G	TCGA-EJ-A46G-01A-31D-A26M-08	16492330	66466498	68540018	42	6161											
SSH3	54961	broad.mit.edu	37	chr11	67074410	67074410	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caggatgagacggtcctcctGggcgtggatttccctgacag	7	9	14	11	2	0	2	0	2	0	1	3	5	3	4	3	4	0	0	3	4	0	1			TCGA-EJ-A46G-01A-31D-A26M-08	TCGA-EJ-A46G-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc5e0ab-5177-49f7-8b17-e7782996202d	4f11c4f9-f9a5-424a-b0cb-8bf2f444e04a	g.chr11:67074410G>T	ENST00000308127.4	+	4	619	c.441G>T	c.(439-441)ctG>ctT	p.L147L	SSH3_ENST00000308298.7_Silent_p.L147L|SSH3_ENST00000376757.5_Silent_p.L147L|SSH3_ENST00000532181.1_3'UTR	NM_017857.3	NP_060327.3	Q8TE77	SSH3_HUMAN	slingshot protein phosphatase 3	147					protein dephosphorylation (GO:0006470)|regulation of actin polymerization or depolymerization (GO:0008064)|regulation of axonogenesis (GO:0050770)|regulation of lamellipodium assembly (GO:0010591)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	actin binding (GO:0003779)|DNA binding (GO:0003677)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)			CGGTCCTCCTGGGCGTGGATT	0.632																																						ENST00000308127.4																			0				NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(439-441)ctG>ctT		slingshot protein phosphatase 3							48	46	47					11																	67074410		2200	4295	6495	SO:0001819	synonymous_variant	54961				regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly	cytoplasm|cytoskeleton|nucleus	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr11:67074410G>T	AF085851	CCDS8157.1	11q13	2013-03-05	2013-03-05		ENSG00000172830	ENSG00000172830		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Slingshots"	30581	protein-coding gene	gene with protein product		606780	"slingshot homolog 3 (Drosophila)"			11832213	Standard	NM_017857		Approved	FLJ20515, FLJ10928	uc001okj.3	Q8TE77	OTTHUMG00000167105	ENST00000308127.4:c.441G>T	11.37:g.67074410G>T						SSH3_ENST00000532181.1_3'UTR|SSH3_ENST00000376757.5_Silent_p.L147L|SSH3_ENST00000308298.7_Silent_p.L147L	p.L147L	NM_017857.3	NP_060327.3	Q8TE77	SSH3_HUMAN	BRCA - Breast invasive adenocarcinoma(15;2.26e-06)		4	619	+			147					Q6PK42|Q76I75|Q8N9L8|Q8WYL0|Q9NV45|Q9NWZ7	Silent	SNP	ENST00000308127.4	37	c.441G>T	CCDS8157.1																																																																																				0.632	SSH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393167.1	NM_018276		20	67	1	0	8.34094e-07	1	9.6796e-07	20	67					T	67074410	G	T	67074410	2	4	115	1	0	0	0	0	0	0	0	1	15185	1335	47	5		5	SSH3	11	67074410	Silent	SNP	G	TCGA-EJ-A46G-01A-31D-A26M-08	607912	67074410	67932106	43	6162											
CLEC12B	387837	broad.mit.edu	37	chr12	10165411	10165411	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agctccatctcccatttggcGtcatgctgctctgggtctgg	4	13	11	13	1	4	0	1	0	3	0	6	0	5	0	2	3	3	3	2	3	0	1			TCGA-EJ-A46G-01A-31D-A26M-08	TCGA-EJ-A46G-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc5e0ab-5177-49f7-8b17-e7782996202d	4f11c4f9-f9a5-424a-b0cb-8bf2f444e04a	g.chr12:10165411G>A	ENST00000338896.5	+	2	247	c.119G>A	c.(118-120)cGt>cAt	p.R40H	RP11-133L14.5_ENST00000544225.1_RNA|CLEC1B_ENST00000428126.2_Intron|CLEC12B_ENST00000396502.1_Missense_Mutation_p.R40H	NM_001129998.1	NP_001123470.1	Q2HXU8	CL12B_HUMAN	C-type lectin domain family 12, member B	40						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)			central_nervous_system(2)|large_intestine(2)|lung(5)	9						CCCATTTGGCGTCATGCTGCT	0.458																																						ENST00000396502.1																			0				central_nervous_system(2)|large_intestine(2)|lung(5)	9						c.(118-120)cGt>cAt		C-type lectin domain family 12, member B							231	188	203					12																	10165411		2203	4300	6503	SO:0001583	missense	387837					integral to membrane|plasma membrane	receptor activity|sugar binding	g.chr12:10165411G>A	AK128243	CCDS8610.1, CCDS44830.1	12p13.2	2010-08-17			ENSG00000256660	ENSG00000256660		"C-type lectin domain containing"	31966	protein-coding gene	gene with protein product						17562706	Standard	NM_205852		Approved		uc001qwz.2	Q2HXU8	OTTHUMG00000168397	ENST00000338896.5:c.119G>A	12.37:g.10165411G>A	ENSP00000344563:p.Arg40His					CLEC12B_ENST00000338896.5_Missense_Mutation_p.R40H|CLEC1B_ENST00000428126.2_Intron	p.R40H	NM_205852.2	NP_995324.2	Q2HXU8	CL12B_HUMAN			2	247	+			40					Q6UWF2|Q6ZRG0	Missense_Mutation	SNP	ENST00000338896.5	37	c.119G>A	CCDS44830.1	.	.	.	.	.	.	.	.	.	.	G	13.14	2.147521	0.37923	.	.	ENSG00000256660	ENST00000396502;ENST00000338896	T;T	0.39787	1.06;1.06	5.1	3.26	0.37387	C-type lectin-like (1);Ly49-like N-terminal (1);	0.119194	0.37955	N	0.001867	T	0.58807	0.2148	M	0.84511	2.7	0.31904	N	0.615543	D;D;D	0.89917	0.998;1.0;1.0	D;P;D	0.64776	0.927;0.88;0.929	T	0.62914	-0.6753	10	0.25106	T	0.35	.	6.6795	0.23113	0.0918:0.0:0.7319:0.1763	.	40;40;40	Q2HXU8;Q2HXU8-2;F5H4H7	CL12B_HUMAN;.;.	H	40	ENSP00000379759:R40H;ENSP00000344563:R40H	ENSP00000344563:R40H	R	+	2	0	CLEC12B	10056678	0.984000	0.35163	0.518000	0.27811	0.001000	0.01503	2.128000	0.42045	0.656000	0.30886	-0.136000	0.14681	CGT		0.458	CLEC12B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399554.2	NM_205852		14	32	0	0	0	1	0	14	32					A	10165411	G	A	10165411	3	1	115	1	0	0	0	0	1	0	0	0	3498	1145	40	1	125	1	CLEC12B	12	10165411	Missense_Mutation	SNP	G	TCGA-EJ-A46G-01A-31D-A26M-08		10165411	123686484	44	6163											
KRT7	3855	broad.mit.edu	37	chr12	52629059	52629059	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aggcccagattgctggccttCggggtcagcttgaggcactg	6	9	15	11	1	1	2	1	1	0	1	2	2	1	2	2	5	2	3	2	5	0	3	rs200462837		TCGA-EJ-A46G-01A-31D-A26M-08	TCGA-EJ-A46G-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc5e0ab-5177-49f7-8b17-e7782996202d	4f11c4f9-f9a5-424a-b0cb-8bf2f444e04a	g.chr12:52629059C>T	ENST00000331817.5	+	2	628	c.445C>T	c.(445-447)Cgg>Tgg	p.R149W		NM_005556.3	NP_005547.3	P08729	K2C7_HUMAN	keratin 7	149	Coil 1B.|Rod.				viral process (GO:0016032)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)|nucleus (GO:0005634)	structural molecule activity (GO:0005198)			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(2)|stomach(1)|urinary_tract(1)	14				BRCA - Breast invasive adenocarcinoma(357;0.105)	Primaquine(DB01087)	TGCTGGCCTTCGGGGTCAGCT	0.612													C|||	1	0.000199681	8e-04	0	5008	,	,		17725	0		0	False		,,,				2504	0					ENST00000331817.5																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(2)|stomach(1)|urinary_tract(1)	14						c.(445-447)Cgg>Tgg		keratin 7							42	47	46					12																	52629059		2203	4300	6503	SO:0001583	missense	3855				cytoskeleton organization|DNA replication|interphase|interspecies interaction between organisms|regulation of translation	Golgi apparatus|keratin filament|nucleus	protein binding|structural molecule activity	g.chr12:52629059C>T		CCDS8822.1	12q13.13	2013-01-16			ENSG00000135480	ENSG00000135480		"-", "Intermediate filaments type II, keratins (basic)"	6445	protein-coding gene	gene with protein product	"keratin, type II cytoskeletal 7", "cytokeratin 7", "sarcolectin", "keratin, 55K type II cytoskeletal"	148059				1713141, 16831889	Standard	XR_245927		Approved	K7, CK7, K2C7, SCL	uc001saa.1	P08729	OTTHUMG00000169580	ENST00000331817.5:c.445C>T	12.37:g.52629059C>T	ENSP00000329243:p.Arg149Trp						p.R149W	NM_005556.3	NP_005547.3	P08729	K2C7_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.105)	2	628	+			149			Coil 1B.|Rod.		Q92676|Q9BUD8|Q9Y3R7	Missense_Mutation	SNP	ENST00000331817.5	37	c.445C>T	CCDS8822.1	2	9.157509157509158E-4	1	0.0020325203252032522	0	0.0	1	0.0017482517482517483	0	0.0	C	9.260	1.042852	0.19748	.	.	ENSG00000135480	ENST00000331817;ENST00000543899;ENST00000422319;ENST00000551537	D	0.93019	-3.15	4.6	-3.1	0.05315	Filament (1);	0.290400	0.19038	N	0.124375	D	0.94922	0.8358	M	0.93150	3.385	0.54753	D	0.999986	P;P	0.49090	0.874;0.919	P;B	0.44860	0.462;0.262	D	0.95162	0.8282	10	0.87932	D	0	.	18.196	0.89822	0.7323:0.2677:0.0:0.0	.	149;149	F8VZY5;P08729	.;K2C7_HUMAN	W	149;149;125;149	ENSP00000329243:R149W	ENSP00000329243:R149W	R	+	1	2	KRT7	50915326	0.052000	0.20516	0.003000	0.11579	0.018000	0.09664	-0.111000	0.10807	-0.321000	0.08627	-0.152000	0.13540	CGG		0.612	KRT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404897.1	NM_005556		5	69	0	0	0	1	0	5	69					T	52629059	C	T	52629059	3	4	115	1	0	0	0	0	1	0	0	0	8483	875	31	2	451	2	KRT7	12	52629059	Missense_Mutation	SNP	C	TCGA-EJ-A46G-01A-31D-A26M-08	42463648	52629059	81222836	45	6164											
KRT79	338785	broad.mit.edu	37	chr12	53216897	53216897	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggtagtcacgcagcagccGtgtcaggtcctccttggcct	5	10	12	14	2	2	0	2	0	0	0	4	0	4	0	4	3	2	3	4	3	1	2	rs200262123		TCGA-EJ-A46G-01A-31D-A26M-08	TCGA-EJ-A46G-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc5e0ab-5177-49f7-8b17-e7782996202d	4f11c4f9-f9a5-424a-b0cb-8bf2f444e04a	g.chr12:53216897G>A	ENST00000330553.5	-	7	1304	c.1270C>T	c.(1270-1272)Cgg>Tgg	p.R424W		NM_175834.2	NP_787028.1	Q5XKE5	K2C79_HUMAN	keratin 79	424	Coil 2.|Rod.					extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	enzyme binding (GO:0019899)|structural molecule activity (GO:0005198)	p.R424W(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						CGCAGCAGCCGTGTCAGGTCC	0.612													G|||	1	0.000199681	0	0	5008	,	,		18812	0		0.001	False		,,,				2504	0					ENST00000330553.5																			1	Substitution - Missense(1)	p.R424W(1)	large_intestine(1)	endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						c.(1270-1272)Cgg>Tgg		keratin 79		G	TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	98	90	93		1270	3.9	1	12		93	0,8600		0,0,4300	no	missense	KRT79	NM_175834.2	101	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	424/536	53216897	1,13005	2203	4300	6503	SO:0001583	missense	338785					keratin filament	structural molecule activity	g.chr12:53216897G>A	AJ564105	CCDS8839.1	12q13.13	2014-02-12	2007-07-03		ENSG00000185640	ENSG00000185640		"-", "Intermediate filaments type II, keratins (basic)"	28930	protein-coding gene	gene with protein product	"keratin 6-like"	611160				11683385	Standard	NM_175834		Approved	K6L, KRT6L	uc001sbb.3	Q5XKE5	OTTHUMG00000169878	ENST00000330553.5:c.1270C>T	12.37:g.53216897G>A	ENSP00000328358:p.Arg424Trp						p.R424W	NM_175834.2	NP_787028.1	Q5XKE5	K2C79_HUMAN			7	1304	-			424			Coil 2.|Rod.		Q6P465|Q7Z793	Missense_Mutation	SNP	ENST00000330553.5	37	c.1270C>T	CCDS8839.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	15.26	2.780759	0.49891	2.27E-4	0.0	ENSG00000185640	ENST00000330553;ENST00000549255	T;D	0.90444	-0.54;-2.67	3.92	3.92	0.45320	Filament (1);	0.211247	0.24074	N	0.041800	D	0.95573	0.8561	M	0.86953	2.85	0.50171	D	0.999852	D	0.89917	1.0	D	0.74023	0.982	D	0.96269	0.9197	10	0.87932	D	0	.	16.1945	0.82018	0.0:0.0:1.0:0.0	.	424	Q5XKE5	K2C79_HUMAN	W	424;10	ENSP00000328358:R424W;ENSP00000449159:R10W	ENSP00000328358:R424W	R	-	1	2	KRT79	51503164	0.979000	0.34478	0.998000	0.56505	0.063000	0.16089	2.532000	0.45659	2.481000	0.83766	0.555000	0.69702	CGG		0.612	KRT79-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406376.1	NM_175834		16	81	0	0	0	1	0	16	81					A	53216897	G	A	53216897	3	1	115	1	0	0	0	0	1	0	0	0	8492	1144	40	1	349	1	KRT79	12	53216897	Missense_Mutation	SNP	G	TCGA-EJ-A46G-01A-31D-A26M-08	587838	53216897	80634998	46	6165											
LRIG3	121227	broad.mit.edu	37	chr12	59281622	59281622	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacaatcagcaatgtagctgActctgttgttcccaatgtgc	10	12	8	11	0	2	1	1	1	1	0	3	1	3	1	1	0	3	5	1	0	4	3			TCGA-EJ-A46G-01A-31D-A26M-08	TCGA-EJ-A46G-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc5e0ab-5177-49f7-8b17-e7782996202d	4f11c4f9-f9a5-424a-b0cb-8bf2f444e04a	g.chr12:59281622A>C	ENST00000320743.3	-	8	1326	c.1040T>G	c.(1039-1041)gTc>gGc	p.V347G	LRIG3_ENST00000379141.4_Missense_Mutation_p.V287G	NM_153377.4	NP_700356.2	Q6UXM1	LRIG3_HUMAN	leucine-rich repeats and immunoglobulin-like domains 3	347					otolith morphogenesis (GO:0032474)	cytoplasmic vesicle (GO:0031410)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)			LRIG3/ROS1(2)	breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(12)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48			GBM - Glioblastoma multiforme(1;1.17e-18)			AATGTAGCTGACTCTGTTGTT	0.413			T	ROS1	NSCLC																																	ENST00000320743.3				Dom	yes		12	12q14.1	121227	T	leucine-rich repeats and immunoglobulin-like domains 3			E	ROS1		NSCLC	LRIG3/ROS1(2)	0				breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(12)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						c.(1039-1041)gTc>gGc		leucine-rich repeats and immunoglobulin-like domains 3							124	125	125					12																	59281622		2203	4300	6503	SO:0001583	missense	121227					integral to membrane		g.chr12:59281622A>C	AY505340	CCDS8960.1, CCDS44933.1	12q13.2	2013-01-11				ENSG00000139263		"Immunoglobulin superfamily / I-set domain containing"	30991	protein-coding gene	gene with protein product		608870					Standard	NM_153377		Approved	FLJ90440, KIAA3016	uc001sqr.4	Q6UXM1	OTTHUMG00000169940	ENST00000320743.3:c.1040T>G	12.37:g.59281622A>C	ENSP00000326759:p.Val347Gly					LRIG3_ENST00000379141.4_Missense_Mutation_p.V287G	p.V347G	NM_153377.4	NP_700356.2	Q6UXM1	LRIG3_HUMAN	GBM - Glioblastoma multiforme(1;1.17e-18)		8	1326	-			347					Q6UXL7|Q8NC72	Missense_Mutation	SNP	ENST00000320743.3	37	c.1040T>G	CCDS8960.1	.	.	.	.	.	.	.	.	.	.	A	15.48	2.846584	0.51164	.	.	ENSG00000139263	ENST00000379141;ENST00000320743	T;T	0.58358	0.34;0.34	5.86	5.86	0.93980	.	0.000000	0.33631	N	0.004717	T	0.59128	0.2171	L	0.42581	1.335	0.80722	D	1	B;D	0.53312	0.02;0.959	B;P	0.54270	0.049;0.747	T	0.55786	-0.8086	9	.	.	.	.	16.5602	0.84551	1.0:0.0:0.0:0.0	.	287;347	Q6UXM1-2;Q6UXM1	.;LRIG3_HUMAN	G	287;347	ENSP00000368436:V287G;ENSP00000326759:V347G	.	V	-	2	0	LRIG3	57567889	1.000000	0.71417	1.000000	0.80357	0.798000	0.45092	9.287000	0.95975	2.367000	0.80283	0.528000	0.53228	GTC		0.413	LRIG3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406623.1	NM_153377		18	32	0	0	0	1	0	18	32					C	59281622	A	C	59281622	3	2	115	1	0	0	0	0	1	0	0	0	8946	275	10	5	2367	5	LRIG3	12	59281622	Missense_Mutation	SNP	A	TCGA-EJ-A46G-01A-31D-A26M-08	6064725	59281622	74570273	47	6166											
FREM2	341640	broad.mit.edu	37	chr13	39451252	39451252	+	Splice_Site	SNP	A	A	G																															gaacttttacctttggttttAggtcagtgatccagtggctg																										TCGA-EJ-A46G-01A-31D-A26M-08	TCGA-EJ-A46G-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc5e0ab-5177-49f7-8b17-e7782996202d	4f11c4f9-f9a5-424a-b0cb-8bf2f444e04a	g.chr13:39451252A>G	ENST00000280481.7	+	21	8760		c.e21-1			NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2						cell communication (GO:0007154)|homophilic cell adhesion (GO:0007156)|inner ear development (GO:0048839)|morphogenesis of an epithelium (GO:0002009)	basement membrane (GO:0005604)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		CTTTGGTTTTAGGTCAGTGAT	0.433																																						ENST00000280481.7																			0				NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148						c.e21-1		FRAS1 related extracellular matrix protein 2							237	209	218					13																	39451252		2203	4300	6503	SO:0001630	splice_region_variant	341640				cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr13:39451252A>G	BX538150	CCDS31960.1	13q13.3	2004-12-15			ENSG00000150893	ENSG00000150893			25396	protein-coding gene	gene with protein product		608945				15345741	Standard	NM_207361		Approved	DKFZp686J0811	uc001uwv.3	Q5SZK8	OTTHUMG00000016759	ENST00000280481.7:c.8545-1A>G	13.37:g.39451252A>G								NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)	21	8760	+		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)						Q4QQG1|Q5H9N8|Q5T6Q1|Q6N057|Q6ZSB4|Q7Z305|Q7Z341	Splice_Site	SNP	ENST00000280481.7	37		CCDS31960.1	.	.	.	.	.	.	.	.	.	.	A	18.00	3.525227	0.64747	.	.	ENSG00000150893	ENST00000280481	.	.	.	5.92	5.92	0.95590	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.3593	0.83251	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	FREM2	38349252	1.000000	0.71417	1.000000	0.80357	0.533000	0.34776	9.339000	0.96797	2.267000	0.75376	0.383000	0.25322	.		0.433	FREM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044599.2	NM_207361	Intron	6	71	0	0	0	1	0	6	71					G	39451252	A	G	39451252	5	3	115	1	0	0	0	0	0	0	1	0	6045	434	15	4	8625	4	FREM2	13	39451252	Splice_Site	SNP	A	TCGA-EJ-A46G-01A-31D-A26M-08		39451252	75718626	48	6167	34	2									
FREM2	341640	broad.mit.edu	37	chr13	39451253	39451253	+	Splice_Site	SNP	G	G	T																															aacttttacctttggttttaGgtcagtgatccagtggctgc																										TCGA-EJ-A46G-01A-31D-A26M-08	TCGA-EJ-A46G-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc5e0ab-5177-49f7-8b17-e7782996202d	4f11c4f9-f9a5-424a-b0cb-8bf2f444e04a	g.chr13:39451253G>T	ENST00000280481.7	+	21	8760		c.e21-1			NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2						cell communication (GO:0007154)|homophilic cell adhesion (GO:0007156)|inner ear development (GO:0048839)|morphogenesis of an epithelium (GO:0002009)	basement membrane (GO:0005604)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		TTTGGTTTTAGGTCAGTGATC	0.438																																						ENST00000280481.7																			0				NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148						c.e21-1		FRAS1 related extracellular matrix protein 2							242	212	222					13																	39451253		2203	4300	6503	SO:0001630	splice_region_variant	341640				cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr13:39451253G>T	BX538150	CCDS31960.1	13q13.3	2004-12-15			ENSG00000150893	ENSG00000150893			25396	protein-coding gene	gene with protein product		608945				15345741	Standard	NM_207361		Approved	DKFZp686J0811	uc001uwv.3	Q5SZK8	OTTHUMG00000016759	ENST00000280481.7:c.8545-1G>T	13.37:g.39451253G>T								NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)	21	8760	+		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)						Q4QQG1|Q5H9N8|Q5T6Q1|Q6N057|Q6ZSB4|Q7Z305|Q7Z341	Splice_Site	SNP	ENST00000280481.7	37		CCDS31960.1	.	.	.	.	.	.	.	.	.	.	G	19.83	3.901083	0.72754	.	.	ENSG00000150893	ENST00000280481	.	.	.	5.92	5.92	0.95590	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.3151	0.98650	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	FREM2	38349253	1.000000	0.71417	1.000000	0.80357	0.597000	0.36814	9.869000	0.99810	2.809000	0.96659	0.467000	0.42956	.		0.438	FREM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044599.2	NM_207361	Intron	6	71	1	0	0.217242	1	0.221965	6	71					T	39451253	G	T	39451253	5	4	115	1	0	0	0	0	0	0	1	0	6045	1014	35	5	8626	5	FREM2	13	39451253	Splice_Site	SNP	G	TCGA-EJ-A46G-01A-31D-A26M-08	1	39451253	75718625	49	6168	34	2									
PLEKHG3	26030	broad.mit.edu	37	chr14	65208858	65208858	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctcctctcccactgaggggCgcagcccggcccacctggcc	4	5	12	20	2	1	1	0	1	1	0	3	1	2	1	6	4	1	2	6	4	0	0	rs567652301		TCGA-EJ-A46G-01A-31D-A26M-08	TCGA-EJ-A46G-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc5e0ab-5177-49f7-8b17-e7782996202d	4f11c4f9-f9a5-424a-b0cb-8bf2f444e04a	g.chr14:65208858C>T	ENST00000394691.1	+	16	2770	c.2623C>T	c.(2623-2625)Cgc>Tgc	p.R875C	PLEKHG3_ENST00000471182.2_Missense_Mutation_p.R408C|PLEKHG3_ENST00000492928.1_Intron|PLEKHG3_ENST00000484731.2_Missense_Mutation_p.R380C|PLEKHG3_ENST00000247226.7_Missense_Mutation_p.R819C			A1L390	PKHG3_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 3	875							Rho guanyl-nucleotide exchange factor activity (GO:0005089)			endometrium(5)|kidney(2)|large_intestine(1)|lung(14)|prostate(2)|skin(3)|urinary_tract(2)	29				all cancers(60;0.00802)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)|BRCA - Breast invasive adenocarcinoma(234;0.0485)		CACTGAGGGGCGCAGCCCGGC	0.667													C|||	1	0.000199681	0	0.0014	5008	,	,		16692	0		0	False		,,,				2504	0					ENST00000247226.7																			0				endometrium(5)|kidney(2)|large_intestine(1)|lung(14)|prostate(2)|skin(3)|urinary_tract(2)	29						c.(2455-2457)Cgc>Tgc		pleckstrin homology domain containing, family G (with RhoGef domain) member 3							19	25	23					14																	65208858		2201	4297	6498	SO:0001583	missense	26030				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	g.chr14:65208858C>T	AB011171	CCDS32098.1	14q23.3	2013-01-10	2004-12-01	2004-12-01	ENSG00000126822	ENSG00000126822		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	20364	protein-coding gene	gene with protein product			"KIAA0599"	KIAA0599			Standard	XM_005267511		Approved	ARHGEF43	uc001xhp.2	A1L390	OTTHUMG00000029671	ENST00000394691.1:c.2623C>T	14.37:g.65208858C>T	ENSP00000378183:p.Arg875Cys					PLEKHG3_ENST00000394691.1_Missense_Mutation_p.R875C|PLEKHG3_ENST00000492928.1_Intron|PLEKHG3_ENST00000484731.2_Missense_Mutation_p.R380C|PLEKHG3_ENST00000471182.2_Missense_Mutation_p.R408C	p.R819C	NM_015549.1	NP_056364.1	A1L390	PKHG3_HUMAN		all cancers(60;0.00802)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)|BRCA - Breast invasive adenocarcinoma(234;0.0485)	14	2763	+			875					A1L389|B5MEC9|O60339|Q6GMS3|Q6P4B1|Q7L3S3|Q86SW7|Q8TEF5|Q96EW6|Q9BT82	Missense_Mutation	SNP	ENST00000394691.1	37	c.2455C>T		.	.	.	.	.	.	.	.	.	.	C	12.51	1.960035	0.34565	.	.	ENSG00000126822	ENST00000247226;ENST00000394691;ENST00000471182;ENST00000484731	T;T;T;T	0.61040	0.59;0.14;1.48;1.48	5.96	4.07	0.47477	.	0.542173	0.18240	N	0.147262	T	0.53077	0.1774	N	0.22421	0.69	0.09310	N	1	D;D;D;D	0.71674	0.998;0.969;0.975;0.985	P;B;P;P	0.56700	0.804;0.34;0.528;0.719	T	0.40942	-0.9536	10	0.48119	T	0.1	.	8.4653	0.32953	0.1458:0.6175:0.2367:0.0	.	408;380;875;819	A1L390-2;G3V311;A1L390;A1L390-3	.;.;PKHG3_HUMAN;.	C	819;875;408;380	ENSP00000247226:R819C;ENSP00000378183:R875C;ENSP00000450945:R408C;ENSP00000450973:R380C	ENSP00000247226:R819C	R	+	1	0	PLEKHG3	64278611	0.000000	0.05858	0.915000	0.36163	0.588000	0.36517	-0.229000	0.09098	2.830000	0.97506	0.655000	0.94253	CGC		0.667	PLEKHG3-010	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000412028.1	NM_015549		12	16	0	0	0	1	0	12	16					T	65208858	C	T	65208858	3	4	115	1	0	0	0	0	1	0	0	0	12070	768	27	1	2505	1	PLEKHG3	14	65208858	Missense_Mutation	SNP	C	TCGA-EJ-A46G-01A-31D-A26M-08		65208858	42140682	50	6169											
ATP10A	57194	broad.mit.edu	37	chr15	26026298	26026298	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atgtccgcagggaagatttcGttgcagcgaagacgcacaaa	13	7	12	9	4	0	2	0	0	0	2	2	4	1	3	1	1	2	4	1	1	3	2	rs145190957		TCGA-EJ-A46G-01A-31D-A26M-08	TCGA-EJ-A46G-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc5e0ab-5177-49f7-8b17-e7782996202d	4f11c4f9-f9a5-424a-b0cb-8bf2f444e04a	g.chr15:26026298G>A	ENST00000356865.6	-	2	633	c.522C>T	c.(520-522)aaC>aaT	p.N174N		NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN	ATPase, class V, type 10A	174					ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|regulation of cell shape (GO:0008360)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		GGAAGATTTCGTTGCAGCGAA	0.498													G|||	1	0.000199681	0	0.0014	5008	,	,		17697	0		0	False		,,,				2504	0					ENST00000356865.6																			0				NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103						c.(520-522)aaC>aaT		ATPase, class V, type 10A		G		0,4406		0,0,2203	111	109	110		522	-9.3	0.3	15	dbSNP_134	110	4,8596	3.7+/-12.6	0,4,4296	no	coding-synonymous	ATP10A	NM_024490.3		0,4,6499	AA,AG,GG		0.0465,0.0,0.0308		174/1500	26026298	4,13002	2203	4300	6503	SO:0001819	synonymous_variant	57194				ATP biosynthetic process|regulation of cell shape	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr15:26026298G>A	AB011138	CCDS32178.1	15q12	2010-04-20	2007-09-19		ENSG00000206190	ENSG00000206190		"ATPases / P-type"	13542	protein-coding gene	gene with protein product		605855	"ATPase, Class V, type 10C", "ATPase, Class V, type 10A"	ATP10C		11015572, 9628581	Standard	NM_024490		Approved	ATPVA, ATPVC, KIAA0566	uc010ayu.3	O60312		ENST00000356865.6:c.522C>T	15.37:g.26026298G>A							p.N174N	NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)	2	633	-		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)	174					Q4G0S9|Q969I4	Silent	SNP	ENST00000356865.6	37	c.522C>T	CCDS32178.1																																																																																				0.498	ATP10A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414830.1	NM_024490		4	41	0	0	0	1	0	4	41					A	26026298	G	A	26026298	2	1	115	1	0	0	0	0	0	0	0	1	1116	1136	40	1		1	ATP10A	15	26026298	Silent	SNP	G	TCGA-EJ-A46G-01A-31D-A26M-08		26026298	76505094	51	6170											
ZSCAN10	84891	broad.mit.edu	37	chr16	3142301	3142301	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cacggggacaactcttgccaGcattacaactaaaatcctgt	13	9	7	12	1	1	0	0	0	1	0	2	1	2	1	2	2	5	1	2	2	5	3			TCGA-EJ-A46G-01A-31D-A26M-08	TCGA-EJ-A46G-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc5e0ab-5177-49f7-8b17-e7782996202d	4f11c4f9-f9a5-424a-b0cb-8bf2f444e04a	g.chr16:3142301G>A	ENST00000252463.2	-	2	335	c.248C>T	c.(247-249)gCt>gTt	p.A83V	ZSCAN10_ENST00000538082.2_Intron|ZSCAN10_ENST00000572548.1_Intron|ZSCAN10_ENST00000575108.1_5'UTR	NM_032805.1	NP_116194.1	Q96SZ4	ZSC10_HUMAN	zinc finger and SCAN domain containing 10	83					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|cervix(3)|endometrium(3)|kidney(1)|lung(8)|ovary(2)|prostate(1)|skin(4)|urinary_tract(1)	24						ACTCTTGCCAGCATTACAACT	0.547																																						ENST00000252463.2																			0				breast(1)|cervix(3)|endometrium(3)|kidney(1)|lung(8)|ovary(2)|prostate(1)|skin(4)|urinary_tract(1)	24						c.(247-249)gCt>gTt		zinc finger and SCAN domain containing 10							46	52	50					16																	3142301		2196	4298	6494	SO:0001583	missense	84891				negative regulation of transcription, DNA-dependent|viral reproduction	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr16:3142301G>A	AA206569	CCDS10493.1, CCDS61813.1, CCDS61814.1	16p13.3	2013-01-08	2007-02-20	2007-02-20		ENSG00000130182		"-", "Zinc fingers, C2H2-type"	12997	protein-coding gene	gene with protein product			"zinc finger protein 206"	ZNF206		9653642	Standard	NM_032805		Approved		uc002ctv.1	Q96SZ4		ENST00000252463.2:c.248C>T	16.37:g.3142301G>A	ENSP00000252463:p.Ala83Val					ZSCAN10_ENST00000572548.1_Intron|ZSCAN10_ENST00000575108.1_5'UTR|ZSCAN10_ENST00000538082.2_Intron	p.A83V	NM_032805.1	NP_116194.1	Q96SZ4	ZSC10_HUMAN			2	335	-			83					B3KQD3|H0YFS6|Q1WWM2	Missense_Mutation	SNP	ENST00000252463.2	37	c.248C>T	CCDS10493.1	.	.	.	.	.	.	.	.	.	.	G	8.504	0.864916	0.17250	.	.	ENSG00000130182	ENST00000252463	T	0.06371	3.31	4.55	2.39	0.29439	Transcription regulator SCAN (1);	0.979360	0.08317	N	0.964434	T	0.04770	0.0129	N	0.14661	0.345	0.09310	N	0.999995	B	0.26935	0.164	B	0.22753	0.041	T	0.42137	-0.9469	10	0.31617	T	0.26	0.3379	11.4703	0.50264	0.0:0.3459:0.6541:0.0	.	83	Q96SZ4	ZSC10_HUMAN	V	83	ENSP00000252463:A83V	ENSP00000252463:A83V	A	-	2	0	ZSCAN10	3082302	0.030000	0.19436	0.976000	0.42696	0.678000	0.39670	2.407000	0.44565	1.044000	0.40200	-0.304000	0.09214	GCT		0.547	ZSCAN10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437124.2	NM_032805		15	48	0	0	0	1	0	15	48					A	3142301	G	A	3142301	3	1	115	1	0	0	0	0	1	0	0	0	18224	971	34	3	1945	3	ZSCAN10	16	3142301	Missense_Mutation	SNP	G	TCGA-EJ-A46G-01A-31D-A26M-08		3142301	87212452	52	6171											
ZNF668	79759	broad.mit.edu	37	chr16	31072622	31072622	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gcactgggtgcaggggaaggGccggagctccgggtgtgagc	6	5	21	9	2	0	1	0	1	0	0	1	3	1	3	2	6	3	3	2	6	1	0			TCGA-EJ-A46G-01A-31D-A26M-08	TCGA-EJ-A46G-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc5e0ab-5177-49f7-8b17-e7782996202d	4f11c4f9-f9a5-424a-b0cb-8bf2f444e04a	g.chr16:31072622G>T	ENST00000538906.1	-	3	2411	c.1627C>A	c.(1627-1629)Ccc>Acc	p.P543T	ZNF668_ENST00000426488.2_Missense_Mutation_p.P566T|ZNF668_ENST00000535577.1_Missense_Mutation_p.P543T|ZNF668_ENST00000539836.3_Missense_Mutation_p.P566T|ZNF668_ENST00000394983.2_Missense_Mutation_p.P543T|ZNF668_ENST00000300849.4_Missense_Mutation_p.P543T|ZNF668_ENST00000417110.2_5'Flank	NM_001172668.1	NP_001166139	Q96K58	ZN668_HUMAN	zinc finger protein 668	543					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	27						CAGGGGAAGGGCCGGAGCTCC	0.657																																					Colon(181;1111 1980 5060 10512 25785)	ENST00000538906.1																			0				breast(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	27						c.(1627-1629)Ccc>Acc		zinc finger protein 668							40	39	39					16																	31072622		2197	4300	6497	SO:0001583	missense	79759				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:31072622G>T		CCDS10701.1, CCDS54003.1	16p11.2	2013-01-08			ENSG00000167394	ENSG00000167394		"Zinc fingers, C2H2-type"	25821	protein-coding gene	gene with protein product						12477932	Standard	NM_024706		Approved	FLJ13479	uc021tgt.1	Q96K58	OTTHUMG00000047357	ENST00000538906.1:c.1627C>A	16.37:g.31072622G>T	ENSP00000440149:p.Pro543Thr					ZNF668_ENST00000535577.1_Missense_Mutation_p.P543T|ZNF668_ENST00000539836.3_Missense_Mutation_p.P566T|ZNF668_ENST00000300849.4_Missense_Mutation_p.P543T|ZNF668_ENST00000426488.2_Missense_Mutation_p.P566T|ZNF668_ENST00000394983.2_Missense_Mutation_p.P543T	p.P543T	NM_001172668.1	NP_001166139.1	Q96K58	ZN668_HUMAN			3	2411	-			543					C9JHH8|F5H7E7|Q59EV1|Q8N669|Q9H8L4	Missense_Mutation	SNP	ENST00000538906.1	37	c.1627C>A	CCDS10701.1	.	.	.	.	.	.	.	.	.	.	G	23.4	4.406163	0.83230	.	.	ENSG00000167394	ENST00000539836;ENST00000535577;ENST00000538906;ENST00000394983;ENST00000300849	T;T;T;T;T	0.28895	1.59;1.59;1.59;1.59;1.59	5.04	5.04	0.67666	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.56337	0.1978	M	0.73372	2.23	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.59236	-0.7492	10	0.72032	D	0.01	-18.2284	17.3161	0.87225	0.0:0.0:1.0:0.0	.	543	Q96K58	ZN668_HUMAN	T	566;543;543;543;543	ENSP00000442573:P566T;ENSP00000441349:P543T;ENSP00000440149:P543T;ENSP00000378434:P543T;ENSP00000300849:P543T	ENSP00000300849:P543T	P	-	1	0	ZNF668	30980123	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	5.197000	0.65141	2.634000	0.89283	0.561000	0.74099	CCC		0.657	ZNF668-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000108516.2	NM_024706		44	39	1	0	6.07928e-31	1	7.72232e-31	44	39					T	31072622	G	T	31072622	3	4	115	1	0	0	0	0	1	0	0	0	18072	1203	42	5	236	5	ZNF668	16	31072622	Missense_Mutation	SNP	G	TCGA-EJ-A46G-01A-31D-A26M-08	27930321	31072622	59282131	53	6172											
AMFR	267	broad.mit.edu	37	chr16	56398015	56398015	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aggtccagtggcacacgctcGgtctggacacggggcaggaa	9	5	16	11	3	1	0	0	0	1	0	3	2	2	2	1	7	0	3	1	7	1	0	rs191697065		TCGA-EJ-A46G-01A-31D-A26M-08	TCGA-EJ-A46G-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc5e0ab-5177-49f7-8b17-e7782996202d	4f11c4f9-f9a5-424a-b0cb-8bf2f444e04a	g.chr16:56398015G>A	ENST00000290649.5	-	13	1812	c.1602C>T	c.(1600-1602)acC>acT	p.T534T		NM_001144.5	NP_001135.3	Q9UKV5	AMFR_HUMAN	autocrine motility factor receptor, E3 ubiquitin protein ligase	534					aging (GO:0007568)|cellular component movement (GO:0006928)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|learning or memory (GO:0007611)|protein oligomerization (GO:0051259)|protein polyubiquitination (GO:0000209)|signal transduction (GO:0007165)|ubiquitin-dependent protein catabolic process (GO:0006511)	dendrite (GO:0030425)|endoplasmic reticulum membrane (GO:0005789)|growth cone (GO:0030426)|Hrd1p ubiquitin ligase complex (GO:0000836)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|protein complex (GO:0043234)	ligase activity (GO:0016874)|receptor activity (GO:0004872)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	17						GCACACGCTCGGTCTGGACAC	0.637													G|||	1	0.000199681	0	0	5008	,	,		21135	0		0.001	False		,,,				2504	0				Pancreas(2;144 323 39528)	ENST00000290649.5																			0				NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	17						c.(1600-1602)acC>acT		autocrine motility factor receptor, E3 ubiquitin protein ligase		G		0,4396		0,0,2198	30	27	28		1602	-9.7	0	16		28	1,8599		0,1,4299	no	coding-synonymous	AMFR	NM_001144.4		0,1,6497	AA,AG,GG		0.0116,0.0,0.0077		534/644	56398015	1,12995	2198	4300	6498	SO:0001819	synonymous_variant	267				endoplasmic reticulum unfolded protein response|ER-associated protein catabolic process|protein oligomerization|protein polyubiquitination	integral to endoplasmic reticulum membrane|integral to membrane of membrane fraction	protein binding|receptor activity|ubiquitin-protein ligase activity|zinc ion binding	g.chr16:56398015G>A	L35233	CCDS10758.1	16q21	2013-01-09	2012-02-23		ENSG00000159461	ENSG00000159461		"RING-type (C3HC4) zinc fingers"	463	protein-coding gene	gene with protein product		603243	"autocrine motility factor receptor"			1649192	Standard	NM_001144		Approved	RNF45, gp78	uc002eiy.4	Q9UKV5	OTTHUMG00000133239	ENST00000290649.5:c.1602C>T	16.37:g.56398015G>A							p.T534T	NM_001144.5	NP_001135.3	Q9UKV5	AMFR2_HUMAN			13	1812	-			534					P26442|Q8IZ70	Silent	SNP	ENST00000290649.5	37	c.1602C>T	CCDS10758.1																																																																																				0.637	AMFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256978.2			9	13	0	0	0	1	0	9	13					A	56398015	G	A	56398015	2	1	115	1	0	0	0	0	0	0	0	1	571	1103	39	2		2	AMFR	16	56398015	Silent	SNP	G	TCGA-EJ-A46G-01A-31D-A26M-08	25325393	56398015	33956738	54	6173											
CDK12	51755	broad.mit.edu	37	chr17	37619348	37619349	+	Frame_Shift_Ins	INS	-	-	T																															tttcctgagcaagcggtctcINStgagtcggagtccactcccc																										TCGA-EJ-A46G-01A-31D-A26M-08	TCGA-EJ-A46G-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc5e0ab-5177-49f7-8b17-e7782996202d	4f11c4f9-f9a5-424a-b0cb-8bf2f444e04a	g.chr17:37619348_37619349insT	ENST00000447079.4	+	1	1057_1058	c.1024_1025insT	c.(1024-1026)ctgfs	p.L342fs	CDK12_ENST00000430627.2_Frame_Shift_Ins_p.L342fs	NM_015083.1|NM_016507.2	NP_055898.1|NP_057591.2	Q9NYV4	CDK12_HUMAN	cyclin-dependent kinase 12	342					mRNA processing (GO:0006397)|phosphorylation of RNA polymerase II C-terminal domain (GO:0070816)|protein autophosphorylation (GO:0046777)|regulation of MAP kinase activity (GO:0043405)|RNA splicing (GO:0008380)	cyclin K-CDK12 complex (GO:0002944)|nuclear cyclin-dependent protein kinase holoenzyme complex (GO:0019908)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cyclin binding (GO:0030332)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)			NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3)	70						CAAGCGGTCTCTGAGTCGGAGT	0.554			"Mis, N, F"		serous ovarian					TCGA Ovarian(9;0.13)																												ENST00000447079.4				Rec	yes		17	17q12	51755	"Mis, N, F"	cyclin-dependent kinase 12			E			serous ovarian		0				NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3)	70						c.(1024-1026)gagfs		cyclin-dependent kinase 12																																				SO:0001589	frameshift_variant	51755				mRNA processing|phosphorylation of RNA polymerase II C-terminal domain|protein autophosphorylation|regulation of MAP kinase activity|RNA splicing	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck|nucleolus	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity	g.chr17:37619348_37619349insT	AF227198	CCDS11337.1, CCDS45666.1	17q12	2011-10-25	2009-12-16	2009-12-16	ENSG00000167258	ENSG00000167258		"Cyclin-dependent kinases"	24224	protein-coding gene	gene with protein product	"CDC2 related protein kinase 7"	615514	"Cdc2-related kinase, arginine/serine-rich"	CRKRS		10048485, 11683387, 19884882	Standard	XM_005257456		Approved	CRK7, CRKR, KIAA0904	uc010cvv.3	Q9NYV4	OTTHUMG00000133214	ENST00000447079.4:c.1025dupT	17.37:g.37619349_37619349dupT	ENSP00000398880:p.Leu342fs	TCGA Ovarian(9;0.13)				CDK12_ENST00000430627.2_Frame_Shift_Ins_p.E342fs	p.E342fs	NM_015083.1|NM_016507.2	NP_055898.1|NP_057591.2	Q9NYV4	CDK12_HUMAN			1	1057_1058	+			342					A7E2B2|B4DYX4|B9EIQ6|O94978	Frame_Shift_Ins	INS	ENST00000447079.4	37	c.1024_1025insT	CCDS11337.1																																																																																				0.554	CDK12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256941.4	NM_016507		14	60						14	60	---	---	---	---	T	37619349	-	T	37619348	7	5	115	1	0	1	1	0	0	0	0	0	3128	912	32	0	1026	0	CDK12	17	37619348	Frame_Shift_Ins	INS	-	TCGA-EJ-A46G-01A-31D-A26M-08		37619348	43575862	55	6174											
CDK12	51755	broad.mit.edu	37	chr17	37657655	37657655	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	acaaaaagaatttcctgcatCgggatattaagtgttctaac	15	12	7	7	1	1	1	0	0	1	1	3	2	2	2	1	1	2	2	1	1	6	5			TCGA-EJ-A46G-01A-31D-A26M-08	TCGA-EJ-A46G-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc5e0ab-5177-49f7-8b17-e7782996202d	4f11c4f9-f9a5-424a-b0cb-8bf2f444e04a	g.chr17:37657655C>T	ENST00000447079.4	+	6	2605	c.2572C>T	c.(2572-2574)Cgg>Tgg	p.R858W	CDK12_ENST00000430627.2_Missense_Mutation_p.R858W	NM_015083.1|NM_016507.2	NP_055898.1|NP_057591.2	Q9NYV4	CDK12_HUMAN	cyclin-dependent kinase 12	858	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				mRNA processing (GO:0006397)|phosphorylation of RNA polymerase II C-terminal domain (GO:0070816)|protein autophosphorylation (GO:0046777)|regulation of MAP kinase activity (GO:0043405)|RNA splicing (GO:0008380)	cyclin K-CDK12 complex (GO:0002944)|nuclear cyclin-dependent protein kinase holoenzyme complex (GO:0019908)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cyclin binding (GO:0030332)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)			NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3)	70						TTTCCTGCATCGGGATATTAA	0.363			"Mis, N, F"		serous ovarian					TCGA Ovarian(9;0.13)																												ENST00000447079.4				Rec	yes		17	17q12	51755	"Mis, N, F"	cyclin-dependent kinase 12			E			serous ovarian		0				NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3)	70						c.(2572-2574)Cgg>Tgg		cyclin-dependent kinase 12							114	116	115					17																	37657655		2203	4300	6503	SO:0001583	missense	51755				mRNA processing|phosphorylation of RNA polymerase II C-terminal domain|protein autophosphorylation|regulation of MAP kinase activity|RNA splicing	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck|nucleolus	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity	g.chr17:37657655C>T	AF227198	CCDS11337.1, CCDS45666.1	17q12	2011-10-25	2009-12-16	2009-12-16	ENSG00000167258	ENSG00000167258		"Cyclin-dependent kinases"	24224	protein-coding gene	gene with protein product	"CDC2 related protein kinase 7"	615514	"Cdc2-related kinase, arginine/serine-rich"	CRKRS		10048485, 11683387, 19884882	Standard	XM_005257456		Approved	CRK7, CRKR, KIAA0904	uc010cvv.3	Q9NYV4	OTTHUMG00000133214	ENST00000447079.4:c.2572C>T	17.37:g.37657655C>T	ENSP00000398880:p.Arg858Trp	TCGA Ovarian(9;0.13)				CDK12_ENST00000430627.2_Missense_Mutation_p.R858W	p.R858W	NM_015083.1|NM_016507.2	NP_055898.1|NP_057591.2	Q9NYV4	CDK12_HUMAN			6	2605	+			858			Protein kinase.		A7E2B2|B4DYX4|B9EIQ6|O94978	Missense_Mutation	SNP	ENST00000447079.4	37	c.2572C>T	CCDS11337.1	.	.	.	.	.	.	.	.	.	.	c	18.36	3.607947	0.66558	.	.	ENSG00000167258	ENST00000430627;ENST00000447079	T;T	0.65549	-0.16;-0.16	6.07	6.07	0.98685	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.44902	D	0.000402	D	0.88112	0.6349	H	0.99225	4.475	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;0.999	D	0.92182	0.5752	10	0.87932	D	0	-10.4279	15.3754	0.74602	0.1393:0.8607:0.0:0.0	.	857;858;858	E7EUM9;Q9NYV4;Q9NYV4-2	.;CDK12_HUMAN;.	W	858	ENSP00000407720:R858W;ENSP00000398880:R858W	ENSP00000407720:R858W	R	+	1	2	CDK12	34911181	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.235000	0.43044	2.891000	0.99171	0.651000	0.88453	CGG		0.363	CDK12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256941.4	NM_016507		19	17	0	0	0	1	0	19	17					T	37657655	C	T	37657655	3	4	115	1	0	0	0	0	1	0	0	0	3128	875	31	2	2594	2	CDK12	17	37657655	Missense_Mutation	SNP	C	TCGA-EJ-A46G-01A-31D-A26M-08	38307	37657655	43537555	56	6175											
KRT33A	3883	broad.mit.edu	37	chr17	39506782	39506782	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	gttctccagctccgcgttgtCccgctccagctgacgcacct	4	10	9	18	4	1	1	0	1	1	0	5	1	4	1	5	0	2	6	5	0	0	2	rs148752041	byFrequency	TCGA-EJ-A46G-01A-31D-A26M-08	TCGA-EJ-A46G-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc5e0ab-5177-49f7-8b17-e7782996202d	4f11c4f9-f9a5-424a-b0cb-8bf2f444e04a	g.chr17:39506782C>G	ENST00000007735.3	-	1	282	c.238G>C	c.(238-240)Gac>Cac	p.D80H		NM_004138.3	NP_004129.2	O76009	KT33A_HUMAN	keratin 33A	80	Coil 1A.|Rod.					extracellular space (GO:0005615)|intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	21		Breast(137;0.000496)				TCCGCGTTGTCCCGCTCCAGC	0.597													C|||	8	0.00159744	8e-04	0.0029	5008	,	,		18199	0		0.003	False		,,,				2504	0.002					ENST00000007735.3																			0				endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	21						c.(238-240)Gac>Cac		keratin 33A		C	HIS/ASP	2,4404	4.2+/-10.8	0,2,2201	94	88	90		238	5.2	1	17	dbSNP_134	90	41,8559	26.8+/-75.7	0,41,4259	no	missense	KRT33A	NM_004138.2	81	0,43,6460	GG,GC,CC		0.4767,0.0454,0.3306	possibly-damaging	80/405	39506782	43,12963	2203	4300	6503	SO:0001583	missense	3883					intermediate filament	protein binding|structural molecule activity	g.chr17:39506782C>G	Y16788	CCDS11388.1	17q21.2	2013-06-20	2006-07-17	2006-07-17	ENSG00000006059	ENSG00000006059		"-", "Intermediate filaments type I, keratins (acidic)"	6450	protein-coding gene	gene with protein product	"hard keratin type I 3I"	602761	"keratin, hair, acidic, 3A"	KRTHA3A		7565656, 16831889	Standard	NM_004138		Approved	Ha-3I, Krt1-3	uc002hwk.2	O76009	OTTHUMG00000133432	ENST00000007735.3:c.238G>C	17.37:g.39506782C>G	ENSP00000007735:p.Asp80His						p.D80H	NM_004138.3	NP_004129.2	O76009	KT33A_HUMAN			1	282	-		Breast(137;0.000496)	80			Coil 1A.|Rod.		B2RA87|Q6NTB9|Q6ZZB9	Missense_Mutation	SNP	ENST00000007735.3	37	c.238G>C	CCDS11388.1	3	0.0013736263736263737	1	0.0020325203252032522	1	0.0027624309392265192	0	0.0	1	0.0013192612137203166	C	23.7	4.451153	0.84209	4.54E-4	0.004767	ENSG00000006059	ENST00000007735	D	0.88975	-2.45	5.22	5.22	0.72569	Filament (1);	0.361208	0.27109	N	0.020885	D	0.90120	0.6913	L	0.41124	1.26	0.35066	D	0.762047	B	0.33266	0.404	P	0.47102	0.537	D	0.92165	0.5739	10	0.54805	T	0.06	.	18.3111	0.90200	0.0:1.0:0.0:0.0	.	80	O76009	KT33A_HUMAN	H	80	ENSP00000007735:D80H	ENSP00000007735:D80H	D	-	1	0	KRT33A	36760308	0.888000	0.30383	1.000000	0.80357	0.986000	0.74619	4.749000	0.62155	2.878000	0.98634	0.650000	0.86243	GAC		0.597	KRT33A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257295.1	NM_004138		4	68	0	0	0	1	0	4	68					G	39506782	C	G	39506782	3	3	115	1	0	0	0	0	1	0	0	0	8469	855	30	5	1004	5	KRT33A	17	39506782	Missense_Mutation	SNP	C	TCGA-EJ-A46G-01A-31D-A26M-08	1849127	39506782	41688428	57	6176											
KPNB1	3837	broad.mit.edu	37	chr17	45754426	45754426	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttagtgggagacttgtgccGtgccctgcaatccaacatca	9	10	10	12	1	1	1	1	0	0	1	2	2	2	1	3	1	4	1	3	1	3	2			TCGA-EJ-A46G-01A-31D-A26M-08	TCGA-EJ-A46G-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc5e0ab-5177-49f7-8b17-e7782996202d	4f11c4f9-f9a5-424a-b0cb-8bf2f444e04a	g.chr17:45754426G>T	ENST00000290158.4	+	17	2443	c.2036G>T	c.(2035-2037)cGt>cTt	p.R679L	KPNB1_ENST00000535458.2_Missense_Mutation_p.R534L|KPNB1_ENST00000540627.1_Missense_Mutation_p.R534L|KPNB1_ENST00000537679.1_Missense_Mutation_p.R463L	NM_001276453.1|NM_002265.4	NP_001263382.1|NP_002256.2	Q14974	IMB1_HUMAN	karyopherin (importin) beta 1	679					apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cytokine-mediated signaling pathway (GO:0019221)|intracellular transport of virus (GO:0075733)|NLS-bearing protein import into nucleus (GO:0006607)|protein import into nucleus (GO:0006606)|protein import into nucleus, translocation (GO:0000060)|ribosomal protein import into nucleus (GO:0006610)|small molecule metabolic process (GO:0044281)|viral life cycle (GO:0019058)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum tubular network (GO:0071782)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|nuclear localization sequence binding (GO:0008139)|poly(A) RNA binding (GO:0044822)|protein domain specific binding (GO:0019904)|protein transporter activity (GO:0008565)|zinc ion binding (GO:0008270)			breast(1)|ovary(1)|pancreas(1)|skin(1)	4						GACTTGTGCCGTGCCCTGCAA	0.468																																						ENST00000290158.4																			0				breast(1)|ovary(1)|pancreas(1)|skin(1)	4						c.(2035-2037)cGt>cTt		karyopherin (importin) beta 1							141	128	133					17																	45754426		2203	4300	6503	SO:0001583	missense	3837				DNA fragmentation involved in apoptotic nuclear change|NLS-bearing substrate import into nucleus|protein import into nucleus, translocation|ribosomal protein import into nucleus|viral genome transport in host cell|viral infectious cycle	cytosol|nuclear pore|nucleoplasm	nuclear localization sequence binding|protein domain specific binding|zinc ion binding	g.chr17:45754426G>T	L39793	CCDS11513.1, CCDS62228.1	17q21.32	2013-02-14			ENSG00000108424	ENSG00000108424		"Importins", "Armadillo repeat containing"	6400	protein-coding gene	gene with protein product	"importin 1"	602738				7615630, 7627554	Standard	NM_002265		Approved	NTF97, IPOB, MGC2155, MGC2156, MGC2157, IMB1, Impnb, IPO1	uc002ilt.2	Q14974	OTTHUMG00000036957	ENST00000290158.4:c.2036G>T	17.37:g.45754426G>T	ENSP00000290158:p.Arg679Leu					KPNB1_ENST00000540627.1_Missense_Mutation_p.R534L|KPNB1_ENST00000537679.1_Missense_Mutation_p.R463L|KPNB1_ENST00000535458.2_Missense_Mutation_p.R534L	p.R679L	NM_001276453.1|NM_002265.4	NP_001263382.1|NP_002256.2	Q14974	IMB1_HUMAN			17	2443	+			679					B7ZAV6|D3DTT3|Q14637|Q53XN2|Q96J27	Missense_Mutation	SNP	ENST00000290158.4	37	c.2036G>T	CCDS11513.1	.	.	.	.	.	.	.	.	.	.	G	13.83	2.354775	0.41700	.	.	ENSG00000108424	ENST00000535458;ENST00000290158;ENST00000540627;ENST00000537679	T;T;T;T	0.75589	-0.95;-0.95;-0.95;-0.95	5.44	4.47	0.54385	Armadillo-like helical (1);Armadillo-type fold (1);	0.109411	0.64402	D	0.000010	T	0.80127	0.4566	M	0.90759	3.145	0.42611	D	0.993311	P;P	0.49185	0.92;0.687	B;B	0.43445	0.42;0.174	D	0.87121	0.2191	9	0.48119	T	0.1	-15.508	14.2131	0.65778	0.0722:0.0:0.9278:0.0	.	463;679	F5H4R7;Q14974	.;IMB1_HUMAN	L	534;679;534;463	ENSP00000438253:R534L;ENSP00000290158:R679L;ENSP00000438964:R534L;ENSP00000445006:R463L	ENSP00000290158:R679L	R	+	2	0	KPNB1	43109425	1.000000	0.71417	0.991000	0.47740	0.716000	0.41182	9.699000	0.98703	1.311000	0.45024	-0.145000	0.13849	CGT		0.468	KPNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089755.2	NM_002265		4	57	1	0	0.150653	1	0.157349	4	57					T	45754426	G	T	45754426	3	4	115	1	0	0	0	0	1	0	0	0	8435	1145	40	5	2102	5	KPNB1	17	45754426	Missense_Mutation	SNP	G	TCGA-EJ-A46G-01A-31D-A26M-08	6247644	45754426	35440784	58	6177											
TMEM92	162461	broad.mit.edu	37	chr17	48356274	48356274	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagacagcccagtggattgcCgggggcccctggaactgccc	7	5	14	15	1	0	1	0	0	0	1	0	3	0	3	5	4	4	0	5	4	1	1	rs143844371		TCGA-EJ-A46G-01A-31D-A26M-08	TCGA-EJ-A46G-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc5e0ab-5177-49f7-8b17-e7782996202d	4f11c4f9-f9a5-424a-b0cb-8bf2f444e04a	g.chr17:48356274C>T	ENST00000300433.3	+	5	393	c.283C>T	c.(283-285)Cgg>Tgg	p.R95W	TMEM92_ENST00000511882.1_3'UTR|TMEM92_ENST00000507382.1_Missense_Mutation_p.R95W|RP11-893F2.9_ENST00000508851.1_RNA	NM_001168215.1	NP_001161687.1	Q6UXU6	TMM92_HUMAN	transmembrane protein 92	95	Pro-rich.					integral component of membrane (GO:0016021)				NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(1)|lung(1)	7						AGTGGATTGCCGGGGGCCCCT	0.617																																						ENST00000300433.3																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(1)|lung(1)	7						c.(283-285)Cgg>Tgg		transmembrane protein 92		C	TRP/ARG,TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	60	71	67		283,283	-1.3	0	17	dbSNP_134	67	0,8600		0,0,4300	no	missense,missense	TMEM92	NM_001168215.1,NM_153229.2	101,101	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	possibly-damaging,possibly-damaging	95/160,95/160	48356274	1,13005	2203	4300	6503	SO:0001583	missense	162461					integral to membrane		g.chr17:48356274C>T		CCDS11562.1	17q21.33	2005-12-13							26579	protein-coding gene	gene with protein product						12975309	Standard	NM_153229		Approved	FLJ33318	uc002iqn.2	Q6UXU6		ENST00000300433.3:c.283C>T	17.37:g.48356274C>T	ENSP00000300433:p.Arg95Trp					TMEM92_ENST00000507382.1_Missense_Mutation_p.R95W|TMEM92_ENST00000511882.1_3'UTR	p.R95W	NM_001168215.1	NP_001161687.1	Q6UXU6	TMM92_HUMAN			5	393	+			95			Pro-rich.		Q8NBF0	Missense_Mutation	SNP	ENST00000300433.3	37	c.283C>T	CCDS11562.1	.	.	.	.	.	.	.	.	.	.	C	12.29	1.894187	0.33442	2.27E-4	0.0	ENSG00000167105	ENST00000300433;ENST00000507382	T;T	0.05855	3.38;3.38	3.75	-1.26	0.09376	.	2.053970	0.02599	N	0.100889	T	0.04815	0.0130	L	0.29908	0.895	0.09310	N	1	P	0.51653	0.947	B	0.33042	0.157	T	0.47222	-0.9134	10	0.87932	D	0	0.0055	8.1229	0.30982	0.1391:0.5298:0.3311:0.0	.	95	Q6UXU6	TMM92_HUMAN	W	95	ENSP00000300433:R95W;ENSP00000425144:R95W	ENSP00000300433:R95W	R	+	1	2	TMEM92	45711273	0.000000	0.05858	0.000000	0.03702	0.022000	0.10575	-0.210000	0.09345	-0.023000	0.13963	0.462000	0.41574	CGG		0.617	TMEM92-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367053.2	NM_153229		18	27	0	0	0	1	0	18	27					T	48356274	C	T	48356274	3	4	115	1	0	0	0	0	1	0	0	0	16218	643	23	2	297	2	TMEM92	17	48356274	Missense_Mutation	SNP	C	TCGA-EJ-A46G-01A-31D-A26M-08	2601848	48356274	32838936	59	6178											
MGAT5B	146664	broad.mit.edu	37	chr17	74922812	74922812	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agcagttcatgaccatgtttCgtgagtgccccacagggcag	9	9	12	11	1	1	2	1	2	0	0	2	2	1	2	3	1	2	4	3	1	0	2			TCGA-EJ-A46G-01A-31D-A26M-08	TCGA-EJ-A46G-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc5e0ab-5177-49f7-8b17-e7782996202d	4f11c4f9-f9a5-424a-b0cb-8bf2f444e04a	g.chr17:74922812C>T	ENST00000569840.2	+	10	1865	c.1291C>T	c.(1291-1293)Cct>Tct	p.P431S	MGAT5B_ENST00000428789.2_Splice_Site_p.P442S|MGAT5B_ENST00000301618.4_Splice_Site_p.P431S	NM_001199172.1	NP_001186101.1	Q3V5L5	MGT5B_HUMAN	mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase, isozyme B	431					protein N-linked glycosylation (GO:0006487)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase activity (GO:0030144)|metal ion binding (GO:0046872)			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(15)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GACCATGTTTCGTGAGTGCCC	0.622																																						ENST00000569840.2																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(15)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.e10+1		mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase, isozyme B							117	107	110					17																	74922812		2203	4298	6501	SO:0001630	splice_region_variant	146664					Golgi membrane|integral to membrane	alpha-1,6-mannosyl-glycoprotein 6-beta-N-acetylglucosaminyltransferase activity|metal ion binding	g.chr17:74922812C>T	AB109185	CCDS11751.1, CCDS45788.1, CCDS59299.1	17q25.3	2013-02-25	2005-11-16		ENSG00000167889	ENSG00000167889		"Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"	24140	protein-coding gene	gene with protein product		612441	"mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase, isoenzyme B"			14617637, 14623122	Standard	NM_001199172		Approved	GnT-IX, FLJ25132, GnT-VB	uc002jth.3	Q3V5L5	OTTHUMG00000177278	ENST00000569840.2:c.1291+1C>T	17.37:g.74922812C>T						MGAT5B_ENST00000301618.4_Splice_Site_p.P431_splice|MGAT5B_ENST00000428789.2_Splice_Site_p.P442_splice	p.P431_splice	NM_001199172.1	NP_001186101.1	Q3V5L5	MGT5B_HUMAN			10	1865	+			431					Q6P3S8|Q6P6B3|Q766X5|Q76D04|Q96LS2	Splice_Site	SNP	ENST00000569840.2	37	c.1291_splice	CCDS59299.1	.	.	.	.	.	.	.	.	.	.	C	26.6	4.752407	0.89753	.	.	ENSG00000167889	ENST00000301618;ENST00000428789	T;T	0.59502	0.28;0.26	4.86	4.86	0.63082	.	0.000000	0.85682	D	0.000000	T	0.76962	0.4061	M	0.77616	2.38	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.80897	-0.1177	10	0.87932	D	0	-12.0281	16.9916	0.86355	0.0:1.0:0.0:0.0	.	442;431	Q3V5L5-2;Q3V5L5-5	.;.	S	431;442	ENSP00000301618:P431S;ENSP00000391227:P442S	ENSP00000301618:P431S	P	+	1	0	MGAT5B	72434407	1.000000	0.71417	1.000000	0.80357	0.920000	0.55202	5.920000	0.70017	2.216000	0.71823	0.561000	0.74099	CCT		0.622	MGAT5B-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460624.2	NM_144677	Missense_Mutation	56	41	0	0	0	1	0	56	41					T	74922812	C	T	74922812	5	4	115	1	0	0	0	0	0	0	1	0	9549	898	31	2	1430	2	MGAT5B	17	74922812	Splice_Site	SNP	C	TCGA-EJ-A46G-01A-31D-A26M-08	26566538	74922812	6272398	60	6179											
B4GALT6	9331	broad.mit.edu	37	chr18	29218612	29218612	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaaagtattctcacctgttCaatgacataaaacgcaaatt	17	11	5	8	1	2	1	2	1	1	0	3	2	2	1	1	0	1	3	1	0	7	5			TCGA-EJ-A46G-01A-31D-A26M-08	TCGA-EJ-A46G-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc5e0ab-5177-49f7-8b17-e7782996202d	4f11c4f9-f9a5-424a-b0cb-8bf2f444e04a	g.chr18:29218612C>A	ENST00000306851.5	-	5	879	c.583G>T	c.(583-585)Gaa>Taa	p.E195*	B4GALT6_ENST00000383131.3_Intron|B4GALT6_ENST00000237019.7_Nonsense_Mutation_p.E156*	NM_004775.3	NP_004766.2	Q9UBX8	B4GT6_HUMAN	UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 6	195					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	galactosyltransferase activity (GO:0008378)|metal ion binding (GO:0046872)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(6)|pancreas(1)	20			OV - Ovarian serous cystadenocarcinoma(10;0.00791)			CTCACCTGTTCAATGACATAA	0.348																																						ENST00000306851.5																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(6)|pancreas(1)	20						c.(583-585)Gaa>Taa		UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 6							92	92	92					18																	29218612		2203	4300	6503	SO:0001587	stop_gained	9331				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|integral to membrane	metal ion binding	g.chr18:29218612C>A	AF038664	CCDS11900.1	18q11	2013-02-19			ENSG00000118276	ENSG00000118276		"Beta 4-glycosyltransferases"	929	protein-coding gene	gene with protein product	"UDP-Gal:glucosylceramide beta-1,4-galactosyltransferase"	604017				9597550, 12180132	Standard	NM_004775		Approved	beta4GalT-VI	uc002kwz.4	Q9UBX8	OTTHUMG00000131980	ENST00000306851.5:c.583G>T	18.37:g.29218612C>A	ENSP00000306459:p.Glu195*					B4GALT6_ENST00000383131.3_Intron|B4GALT6_ENST00000237019.7_Nonsense_Mutation_p.E156*	p.E195*	NM_004775.3	NP_004766.2	Q9UBX8	B4GT6_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.00791)		5	879	-			195					O60514|Q6NT09	Nonsense_Mutation	SNP	ENST00000306851.5	37	c.583G>T	CCDS11900.1	.	.	.	.	.	.	.	.	.	.	C	38	7.090099	0.98055	.	.	ENSG00000118276	ENST00000306851;ENST00000237019	.	.	.	5.89	5.89	0.94794	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.52906	T	0.07	-2.3825	20.2562	0.98421	0.0:1.0:0.0:0.0	.	.	.	.	X	195;156	.	ENSP00000237019:E156X	E	-	1	0	B4GALT6	27472610	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.818000	0.86416	2.797000	0.96272	0.563000	0.77884	GAA		0.348	B4GALT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254942.2	NM_004775		18	43	1	0	2.4624e-09	1	2.9675e-09	18	43					A	29218612	C	A	29218612	4	1	115	1	0	0	0	0	0	1	0	0	1275	835	29	5	585	5	B4GALT6	18	29218612	Nonsense_Mutation	SNP	C	TCGA-EJ-A46G-01A-31D-A26M-08		29218612	48858636	61	6180											
CCDC94	55702	broad.mit.edu	37	chr19	4267640	4267640	+	Missense_Mutation	SNP	A	A	G																															ggccccaaagcccaagaggaAggtggaggtctgggagcaga																										TCGA-EJ-A46G-01A-31D-A26M-08	TCGA-EJ-A46G-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc5e0ab-5177-49f7-8b17-e7782996202d	4f11c4f9-f9a5-424a-b0cb-8bf2f444e04a	g.chr19:4267640A>G	ENST00000262962.7	+	7	796	c.728A>G	c.(727-729)aAg>aGg	p.K243R		NM_018074.4	NP_060544.2	Q9BW85	CCD94_HUMAN	coiled-coil domain containing 94	243										NS(1)|endometrium(1)|lung(2)|ovary(1)|stomach(2)	7				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0348)|STAD - Stomach adenocarcinoma(1328;0.183)		CCCAAGAGGAAGGTGGAGGTC	0.682											OREG0025164	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000262962.7																			0				NS(1)|endometrium(1)|lung(2)|ovary(1)|stomach(2)	7						c.(727-729)aAg>aGg		coiled-coil domain containing 94							33	34	34					19																	4267640		2203	4300	6503	SO:0001583	missense	55702							g.chr19:4267640A>G	AK001236	CCDS12124.1	19p13.3	2008-02-05				ENSG00000105248			25518	protein-coding gene	gene with protein product						12477932	Standard	NM_018074		Approved	FLJ10374	uc002lzv.4	Q9BW85		ENST00000262962.7:c.728A>G	19.37:g.4267640A>G	ENSP00000262962:p.Lys243Arg		OREG0025164	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	617		p.K243R	NM_018074.4	NP_060544.2	Q9BW85	CCD94_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0348)|STAD - Stomach adenocarcinoma(1328;0.183)	7	796	+			243					O75270|Q9H862|Q9NW16	Missense_Mutation	SNP	ENST00000262962.7	37	c.728A>G	CCDS12124.1	.	.	.	.	.	.	.	.	.	.	A	11.93	1.786347	0.31593	.	.	ENSG00000105248	ENST00000262962	T	0.30714	1.52	5.13	1.91	0.25777	.	0.287434	0.32161	N	0.006494	T	0.26011	0.0634	L	0.56124	1.755	0.38299	D	0.942932	B	0.30482	0.281	B	0.31869	0.137	T	0.06770	-1.0808	10	0.33141	T	0.24	-22.488	7.5363	0.27712	0.6398:0.0:0.3602:0.0	.	243	Q9BW85	CCD94_HUMAN	R	243	ENSP00000262962:K243R	ENSP00000262962:K243R	K	+	2	0	CCDC94	4218640	1.000000	0.71417	0.214000	0.23707	0.671000	0.39405	2.400000	0.44504	0.022000	0.15160	-0.425000	0.05940	AAG		0.682	CCDC94-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458007.2	NM_018074		3	36	0	0	0	1	0	3	36					G	4267640	A	G	4267640	3	3	115	1	0	0	0	0	1	0	0	0	2873	72	3	4	754	4	CCDC94	19	4267640	Missense_Mutation	SNP	A	TCGA-EJ-A46G-01A-31D-A26M-08		4267640	54861343	62	6181	35	2									
CCDC94	55702	broad.mit.edu	37	chr19	4267641	4267641	+	Missense_Mutation	SNP	G	G	T																															gccccaaagcccaagaggaaGgtggaggtctgggagcagag																										TCGA-EJ-A46G-01A-31D-A26M-08	TCGA-EJ-A46G-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc5e0ab-5177-49f7-8b17-e7782996202d	4f11c4f9-f9a5-424a-b0cb-8bf2f444e04a	g.chr19:4267641G>T	ENST00000262962.7	+	7	797	c.729G>T	c.(727-729)aaG>aaT	p.K243N		NM_018074.4	NP_060544.2	Q9BW85	CCD94_HUMAN	coiled-coil domain containing 94	243										NS(1)|endometrium(1)|lung(2)|ovary(1)|stomach(2)	7				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0348)|STAD - Stomach adenocarcinoma(1328;0.183)		CCAAGAGGAAGGTGGAGGTCT	0.682											OREG0025164	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000262962.7																			0				NS(1)|endometrium(1)|lung(2)|ovary(1)|stomach(2)	7						c.(727-729)aaG>aaT		coiled-coil domain containing 94							33	34	34					19																	4267641		2203	4300	6503	SO:0001583	missense	55702							g.chr19:4267641G>T	AK001236	CCDS12124.1	19p13.3	2008-02-05				ENSG00000105248			25518	protein-coding gene	gene with protein product						12477932	Standard	NM_018074		Approved	FLJ10374	uc002lzv.4	Q9BW85		ENST00000262962.7:c.729G>T	19.37:g.4267641G>T	ENSP00000262962:p.Lys243Asn		OREG0025164	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	617		p.K243N	NM_018074.4	NP_060544.2	Q9BW85	CCD94_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0348)|STAD - Stomach adenocarcinoma(1328;0.183)	7	797	+			243					O75270|Q9H862|Q9NW16	Missense_Mutation	SNP	ENST00000262962.7	37	c.729G>T	CCDS12124.1	.	.	.	.	.	.	.	.	.	.	G	16.60	3.169062	0.57584	.	.	ENSG00000105248	ENST00000262962	T	0.31769	1.48	5.13	0.512	0.16994	.	0.287434	0.32161	U	0.006494	T	0.47525	0.1450	M	0.83603	2.65	0.36095	D	0.843764	D	0.69078	0.997	D	0.68192	0.956	T	0.51309	-0.8722	10	0.35671	T	0.21	-22.488	4.6601	0.12637	0.1657:0.0:0.5291:0.3052	.	243	Q9BW85	CCD94_HUMAN	N	243	ENSP00000262962:K243N	ENSP00000262962:K243N	K	+	3	2	CCDC94	4218641	1.000000	0.71417	0.110000	0.21437	0.686000	0.39977	3.852000	0.55934	0.191000	0.20236	0.485000	0.47835	AAG		0.682	CCDC94-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458007.2	NM_018074		3	36	1	0	0.000602214	1	0.000658234	3	36					T	4267641	G	T	4267641	3	4	115	1	0	0	0	0	1	0	0	0	2873	991	35	5	755	5	CCDC94	19	4267641	Missense_Mutation	SNP	G	TCGA-EJ-A46G-01A-31D-A26M-08	1	4267641	54861342	63	6182	35	2									
KEAP1	9817	broad.mit.edu	37	chr19	10602517	10602517	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcacctgcaggtccgccaacCggagccaggtgccgtcactg	7	5	13	16	3	1	0	1	0	0	0	2	1	2	1	6	3	4	2	6	3	1	0			TCGA-EJ-A46G-01A-31D-A26M-08	TCGA-EJ-A46G-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc5e0ab-5177-49f7-8b17-e7782996202d	4f11c4f9-f9a5-424a-b0cb-8bf2f444e04a	g.chr19:10602517C>A	ENST00000171111.5	-	3	1608	c.1061G>T	c.(1060-1062)cGg>cTg	p.R354L	KEAP1_ENST00000588024.1_5'Flank|CTC-429L19.3_ENST00000592671.1_RNA|KEAP1_ENST00000393623.2_Missense_Mutation_p.R354L	NM_203500.1	NP_987096.1	Q14145	KEAP1_HUMAN	kelch-like ECH-associated protein 1	354					cellular response to interleukin-4 (GO:0071353)|in utero embryonic development (GO:0001701)|proteasomal ubiquitin-independent protein catabolic process (GO:0010499)|protein ubiquitination (GO:0016567)|regulation of epidermal cell differentiation (GO:0045604)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|microtubule organizing center (GO:0005815)|midbody (GO:0030496)|nucleus (GO:0005634)				breast(3)|endometrium(2)|kidney(4)|large_intestine(4)|liver(2)|lung(69)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	92			OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05)		Dimethyl fumarate(DB08908)	GTCCGCCAACCGGAGCCAGGT	0.706																																						ENST00000171111.5																			0				breast(3)|endometrium(2)|kidney(4)|large_intestine(4)|liver(2)|lung(69)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	92						c.(1060-1062)cGg>cTg		kelch-like ECH-associated protein 1							13	15	14					19																	10602517		2192	4289	6481	SO:0001583	missense	9817				regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|midbody|nucleus	protein binding	g.chr19:10602517C>A	AF361886	CCDS12239.1	19p13.2	2013-01-30				ENSG00000079999		"Kelch-like", "BTB/POZ domain containing"	23177	protein-coding gene	gene with protein product	"kelch-like family member 19"	606016					Standard	NM_012289		Approved	KIAA0132, MGC10630, MGC1114, MGC20887, MGC4407, MGC9454, INrf2, KLHL19	uc002mor.1	Q14145		ENST00000171111.5:c.1061G>T	19.37:g.10602517C>A	ENSP00000171111:p.Arg354Leu					KEAP1_ENST00000393623.2_Missense_Mutation_p.R354L	p.R354L	NM_203500.1	NP_987096.1	Q14145	KEAP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05)		3	1608	-			354					B3KPD5|Q6LEP0|Q8WTX1|Q9BPY9	Missense_Mutation	SNP	ENST00000171111.5	37	c.1061G>T	CCDS12239.1	.	.	.	.	.	.	.	.	.	.	C	16.81	3.224724	0.58668	.	.	ENSG00000079999	ENST00000171111;ENST00000393623	T;T	0.78816	-1.21;-1.21	5.52	5.52	0.82312	Kelch-type beta propeller (1);	0.111687	0.64402	D	0.000017	T	0.56572	0.1994	N	0.17248	0.465	0.46586	D	0.999118	P	0.41710	0.76	B	0.32533	0.147	T	0.59156	-0.7507	10	0.11485	T	0.65	.	12.6368	0.56687	0.0:0.8337:0.1663:0.0	.	354	Q14145	KEAP1_HUMAN	L	354	ENSP00000171111:R354L;ENSP00000377245:R354L	ENSP00000171111:R354L	R	-	2	0	KEAP1	10463517	0.997000	0.39634	0.956000	0.39512	0.984000	0.73092	5.416000	0.66417	2.609000	0.88269	0.561000	0.74099	CGG		0.706	KEAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452000.1	NM_012289		3	9	1	0	0.115264	1	0.12174	3	9					A	10602517	C	A	10602517	3	1	115	1	0	0	0	0	1	0	0	0	8141	652	23	5	829	5	KEAP1	19	10602517	Missense_Mutation	SNP	C	TCGA-EJ-A46G-01A-31D-A26M-08	6334876	10602517	48526466	64	6183											
TMEM205	374882	broad.mit.edu	37	chr19	11453691	11453691	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tacctccccacccaggcctcGctccttctccacggtttgca	5	10	6	20	2	1	0	0	0	1	0	5	0	3	0	7	2	2	3	7	2	1	3	rs564427057		TCGA-EJ-A46G-01A-31D-A26M-08	TCGA-EJ-A46G-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc5e0ab-5177-49f7-8b17-e7782996202d	4f11c4f9-f9a5-424a-b0cb-8bf2f444e04a	g.chr19:11453691G>T	ENST00000354882.5	-	3	796	c.370C>A	c.(370-372)Cga>Aga	p.R124R	TMEM205_ENST00000586590.1_Silent_p.R124R|CCDC159_ENST00000588790.1_5'Flank|TMEM205_ENST00000447337.1_Silent_p.R124R|RAB3D_ENST00000589655.1_Intron|TMEM205_ENST00000587948.1_Silent_p.R124R|TMEM205_ENST00000586218.1_Silent_p.R63R|TMEM205_ENST00000593256.2_Silent_p.R124R|TMEM205_ENST00000589555.1_Silent_p.R124R|TMEM205_ENST00000586956.1_Silent_p.R124R|TMEM205_ENST00000588560.1_Silent_p.R124R			Q6UW68	TM205_HUMAN	transmembrane protein 205	124						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				endometrium(1)|lung(1)	2						CCCAGGCCTCGCTCCTTCTCC	0.647																																						ENST00000354882.5																			0				endometrium(1)|lung(1)	2						c.(370-372)Cga>Aga		transmembrane protein 205							67	63	64					19																	11453691		2203	4300	6503	SO:0001819	synonymous_variant	374882					integral to membrane		g.chr19:11453691G>T	AK127147	CCDS32909.1	19p13.2	2008-01-09				ENSG00000105518			29631	protein-coding gene	gene with protein product		613771				12975309	Standard	NM_198536		Approved	UNQ501, MBC3205	uc002mrb.2	Q6UW68		ENST00000354882.5:c.370C>A	19.37:g.11453691G>T						TMEM205_ENST00000587948.1_Silent_p.R124R|TMEM205_ENST00000447337.1_Silent_p.R124R|TMEM205_ENST00000593256.2_Silent_p.R124R|TMEM205_ENST00000586590.1_Silent_p.R124R|TMEM205_ENST00000586218.1_Silent_p.R63R|TMEM205_ENST00000586956.1_Silent_p.R124R|RAB3D_ENST00000589655.1_Intron|TMEM205_ENST00000589555.1_Silent_p.R124R|TMEM205_ENST00000588560.1_Silent_p.R124R	p.R124R			Q6UW68	TM205_HUMAN			3	796	-			124						Silent	SNP	ENST00000354882.5	37	c.370C>A	CCDS32909.1																																																																																				0.647	TMEM205-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458743.1	NM_198536		22	31	1	0	7.41877e-09	1	8.8274e-09	22	31					T	11453691	G	T	11453691	2	4	115	1	0	0	0	0	0	0	0	1	16127	1095	38	5		5	TMEM205	19	11453691	Silent	SNP	G	TCGA-EJ-A46G-01A-31D-A26M-08	851174	11453691	47675292	65	6184											
ZNF223	7766	broad.mit.edu	37	chr19	44564693	44564693	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgcccagaggaagctgtatcGagatgtgatgctggagaact	11	9	14	7	1	0	4	0	1	0	3	1	7	0	5	1	2	4	3	1	2	3	1			TCGA-EJ-A46G-01A-31D-A26M-08	TCGA-EJ-A46G-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc5e0ab-5177-49f7-8b17-e7782996202d	4f11c4f9-f9a5-424a-b0cb-8bf2f444e04a	g.chr19:44564693G>A	ENST00000434772.3	+	3	356	c.101G>A	c.(100-102)cGa>cAa	p.R34Q	ZNF223_ENST00000588518.1_Intron|ZNF223_ENST00000591793.1_Missense_Mutation_p.R144Q|ZNF223_ENST00000585552.1_Missense_Mutation_p.R34Q	NM_013361.4	NP_037493.3	Q9UK11	ZN223_HUMAN	zinc finger protein 223	34	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	18		Prostate(69;0.0352)				AAGCTGTATCGAGATGTGATG	0.532																																						ENST00000591793.1																			0				endometrium(3)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	18						c.(430-432)cGa>cAa		zinc finger protein 223							237	216	223					19																	44564693		2203	4300	6503	SO:0001583	missense	7766				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44564693G>A	AF187989	CCDS12635.1	19q13.2	2013-01-08				ENSG00000178386		"Zinc fingers, C2H2-type", "-"	13016	protein-coding gene	gene with protein product							Standard	XM_006723365		Approved		uc002oyf.1	Q9UK11		ENST00000434772.3:c.101G>A	19.37:g.44564693G>A	ENSP00000401947:p.Arg34Gln					ZNF223_ENST00000588518.1_Intron|ZNF223_ENST00000585552.1_Missense_Mutation_p.R34Q|ZNF223_ENST00000434772.3_Missense_Mutation_p.R34Q	p.R144Q			Q9UK11	ZN223_HUMAN			5	514	+		Prostate(69;0.0352)	34					Q15736|Q8TBJ3|Q9HCA9	Missense_Mutation	SNP	ENST00000434772.3	37	c.431G>A	CCDS12635.1	.	.	.	.	.	.	.	.	.	.	G	9.330	1.060350	0.19987	.	.	ENSG00000178386	ENST00000434772	T	0.02579	4.24	2.06	-3.0	0.05480	Krueppel-associated box (4);	.	.	.	.	T	0.04182	0.0116	M	0.81682	2.555	0.09310	N	1	P	0.35481	0.504	B	0.29353	0.101	T	0.14615	-1.0466	9	0.45353	T	0.12	.	7.7605	0.28948	0.6097:0.0:0.3903:0.0	.	34	Q9UK11	ZN223_HUMAN	Q	34	ENSP00000401947:R34Q	ENSP00000401947:R34Q	R	+	2	0	ZNF223	49256533	0.000000	0.05858	0.297000	0.24988	0.831000	0.47069	-1.627000	0.02033	-0.655000	0.05387	0.305000	0.20034	CGA		0.532	ZNF223-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460469.2			45	109	0	0	0	1	0	45	109					A	44564693	G	A	44564693	3	1	115	1	0	0	0	0	1	0	0	0	17774	1058	37	2	107	2	ZNF223	19	44564693	Missense_Mutation	SNP	G	TCGA-EJ-A46G-01A-31D-A26M-08	33111002	44564693	14564290	66	6185											
C20orf29	55317	broad.mit.edu	37	chr20	3802913	3802913	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgagagggacaggcttctccGgaaggaacagattttagctg	11	8	14	8	2	1	2	0	0	1	2	2	6	1	5	1	4	2	2	1	4	3	3	rs151265745	byFrequency	TCGA-EJ-A46G-01A-31D-A26M-08	TCGA-EJ-A46G-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc5e0ab-5177-49f7-8b17-e7782996202d	4f11c4f9-f9a5-424a-b0cb-8bf2f444e04a	g.chr20:3802913G>A	ENST00000246041.2	+	2	368	c.149G>A	c.(148-150)cGg>cAg	p.R50Q	AP5S1_ENST00000379573.2_Missense_Mutation_p.R50Q|AP5S1_ENST00000379567.2_Missense_Mutation_p.R50Q			Q9NUS5	AP5S1_HUMAN	adaptor-related protein complex 5, sigma 1 subunit	50					double-strand break repair via homologous recombination (GO:0000724)|endosomal transport (GO:0016197)|protein transport (GO:0015031)	AP-type membrane coat adaptor complex (GO:0030119)|cytoplasm (GO:0005737)|late endosome (GO:0005770)|lysosome (GO:0005764)|nucleus (GO:0005634)											AGGCTTCTCCGGAAGGAACAG	0.572													G|||	2	0.000399361	0	0.0029	5008	,	,		17674	0		0	False		,,,				2504	0					ENST00000379573.2																			0											c.(148-150)cGg>cAg		adaptor-related protein complex 5, sigma 1 subunit		G	GLN/ARG,GLN/ARG,GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	58	56	57		149,149,149	5.3	1	20	dbSNP_134	57	4,8596	3.7+/-12.6	0,4,4296	yes	missense,missense,missense	C20orf29	NM_001204446.1,NM_001204447.1,NM_018347.2	43,43,43	0,5,6498	AA,AG,GG		0.0465,0.0227,0.0384	probably-damaging,probably-damaging,probably-damaging	50/201,50/201,50/201	3802913	5,13001	2203	4300	6503	SO:0001583	missense	55317				double-strand break repair via homologous recombination		protein binding	g.chr20:3802913G>A	AK002030	CCDS13070.1	20p13	2012-02-27	2012-02-27	2012-02-27	ENSG00000125843	ENSG00000125843			15875	protein-coding gene	gene with protein product		614824	"chromosome 20 open reading frame 29"	C20orf29		11780052, 22022230	Standard	NM_001204446		Approved	FLJ11168	uc002wjs.2	Q9NUS5	OTTHUMG00000031760	ENST00000246041.2:c.149G>A	20.37:g.3802913G>A	ENSP00000246041:p.Arg50Gln					AP5S1_ENST00000246041.2_Missense_Mutation_p.R50Q|AP5S1_ENST00000379567.2_Missense_Mutation_p.R50Q	p.R50Q	NM_001204446.1|NM_018347.2	NP_001191375.1|NP_060817.1	Q9NUS5	CT029_HUMAN			2	393	+			50					B3KSD0|D3DVY7	Missense_Mutation	SNP	ENST00000246041.2	37	c.149G>A	CCDS13070.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	14.08	2.429939	0.43122	2.27E-4	4.65E-4	ENSG00000125843	ENST00000379573;ENST00000379567;ENST00000455742;ENST00000246041	.	.	.	5.29	5.29	0.74685	.	0.255342	0.38720	N	0.001581	T	0.47210	0.1433	L	0.37750	1.13	0.35571	D	0.805484	B	0.18968	0.032	B	0.16289	0.015	T	0.50550	-0.8815	9	0.26408	T	0.33	-15.8328	14.3066	0.66389	0.0:0.0:1.0:0.0	.	50	Q9NUS5	CT029_HUMAN	Q	50	.	ENSP00000246041:R50Q	R	+	2	0	C20orf29	3750913	1.000000	0.71417	0.969000	0.41365	0.957000	0.61999	2.383000	0.44354	2.756000	0.94617	0.561000	0.74099	CGG		0.572	AP5S1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077768.2	NM_018347		29	19	0	0	0	1	0	29	19					A	3802913	G	A	3802913	3	1	115	1	0	0	0	0	1	0	0	0	2108	1116	39	2	151	2	C20orf29	20	3802913	Missense_Mutation	SNP	G	TCGA-EJ-A46G-01A-31D-A26M-08		3802913	59222607	67	6186											
DIDO1	11083	broad.mit.edu	37	chr20	61525242	61525242	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cggccggacactgtgacggtGgtgaccaccccgctcccaca	7	5	12	17	4	0	2	0	2	0	0	1	3	1	3	5	4	0	1	5	4	0	0			TCGA-EJ-A46G-01A-31D-A26M-08	TCGA-EJ-A46G-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc5e0ab-5177-49f7-8b17-e7782996202d	4f11c4f9-f9a5-424a-b0cb-8bf2f444e04a	g.chr20:61525242G>A	ENST00000266070.4	-	12	3202	c.2877C>T	c.(2875-2877)acC>acT	p.T959T	DIDO1_ENST00000395335.2_Silent_p.T959T|DIDO1_ENST00000395343.1_Silent_p.T959T|DIDO1_ENST00000395340.1_Silent_p.T959T	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	959					apoptotic signaling pathway (GO:0097190)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					CTGTGACGGTGGTGACCACCC	0.682																																					Melanoma(25;381 482 3385 5362 7955 17159 17174 40604 47095)	ENST00000266070.4																			0				NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99						c.(2875-2877)acC>acT		death inducer-obliterator 1							52	52	52					20																	61525242		2203	4299	6502	SO:0001819	synonymous_variant	11083				apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding	g.chr20:61525242G>A	AB002331	CCDS13508.2, CCDS13509.1, CCDS33506.1	20q13.33	2013-01-28	2005-11-11	2005-11-11	ENSG00000101191	ENSG00000101191		"Zinc fingers, PHD-type"	2680	protein-coding gene	gene with protein product		604140	"chromosome 20 open reading frame 158", "death associated transcription factor 1"	C20orf158, DATF1		10393935	Standard	NM_033081		Approved	DIO1, dJ885L7.8, FLJ11265, KIAA0333, DIO-1, BYE1	uc002ydr.2	Q9BTC0	OTTHUMG00000032945	ENST00000266070.4:c.2877C>T	20.37:g.61525242G>A						DIDO1_ENST00000395340.1_Silent_p.T959T|DIDO1_ENST00000395335.2_Silent_p.T959T|DIDO1_ENST00000395343.1_Silent_p.T959T	p.T959T	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN			12	3202	-	Breast(26;5.68e-08)		959					A8MY65|B9EH82|E1P5I1|O15043|Q3ZTL7|Q3ZTL8|Q4VXS1|Q4VXS2|Q4VXV8|Q4VXV9|Q96D72|Q9BQW0|Q9BW03|Q9H4G6|Q9H4G7|Q9NTU8|Q9NUM8|Q9UFB6	Silent	SNP	ENST00000266070.4	37	c.2877C>T	CCDS33506.1																																																																																				0.682	DIDO1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080091.2	NM_080796		21	31	0	0	0	1	0	21	31					A	61525242	G	A	61525242	2	1	115	1	0	0	0	0	0	0	0	1	4522	1335	47	3		3	DIDO1	20	61525242	Silent	SNP	G	TCGA-EJ-A46G-01A-31D-A26M-08	57722329	61525242	1500278	68	6187											
SF3A1	10291	broad.mit.edu	37	chr22	30737773	30737773	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	atcctcctcatcagactcgaCctccatctcaacttcctcac	9	11	2	19	1	4	1	4	0	1	1	10	2	8	1	5	0	1	0	5	0	1	1			TCGA-EJ-A46G-01A-31D-A26M-08	TCGA-EJ-A46G-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc5e0ab-5177-49f7-8b17-e7782996202d	4f11c4f9-f9a5-424a-b0cb-8bf2f444e04a	g.chr22:30737773C>A	ENST00000215793.8	-	7	1133	c.979G>T	c.(979-981)Gtc>Ttc	p.V327F	SF3A1_ENST00000439242.1_Missense_Mutation_p.V262F	NM_005877.4	NP_005868.1	Q15459	SF3A1_HUMAN	splicing factor 3a, subunit 1, 120kDa	327					gene expression (GO:0010467)|mRNA 3'-splice site recognition (GO:0000389)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U2-type spliceosomal complex (GO:0005684)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|urinary_tract(1)	29						TCAGACTCGACCTCCATCTCA	0.562																																						ENST00000439242.1																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|urinary_tract(1)	29						c.(784-786)Gtc>Ttc		splicing factor 3a, subunit 1, 120kDa							221	185	197					22																	30737773		2203	4300	6503	SO:0001583	missense	10291				nuclear mRNA 3'-splice site recognition	catalytic step 2 spliceosome|nucleoplasm|U2-type spliceosomal complex	protein binding|RNA binding	g.chr22:30737773C>A	X85237	CCDS13875.1	22q12.2	2014-09-17	2002-08-29		ENSG00000099995	ENSG00000099995			10765	protein-coding gene	gene with protein product		605595	"splicing factor 3a, subunit 1, 120kD"			7489498	Standard	NM_005877		Approved	SF3a120, SAP114, PRPF21, Prp21	uc003ahl.3	Q15459	OTTHUMG00000151005	ENST00000215793.8:c.979G>T	22.37:g.30737773C>A	ENSP00000215793:p.Val327Phe					SF3A1_ENST00000215793.7_Missense_Mutation_p.V327F	p.V262F	NM_001005409.1	NP_001005409.1	Q15459	SF3A1_HUMAN			7	915	-			327			Poly-Glu.		E9PAW1	Missense_Mutation	SNP	ENST00000215793.8	37	c.784G>T	CCDS13875.1	.	.	.	.	.	.	.	.	.	.	C	24.7	4.562577	0.86335	.	.	ENSG00000099995	ENST00000439242;ENST00000215793;ENST00000536049;ENST00000444440	T;T	0.32753	1.44;1.44	5.97	5.97	0.96955	.	0.000000	0.85682	D	0.000000	T	0.57946	0.2088	M	0.72118	2.19	0.80722	D	1	D	0.67145	0.996	D	0.76575	0.988	T	0.52124	-0.8617	10	0.45353	T	0.12	-22.3269	20.428	0.99075	0.0:1.0:0.0:0.0	.	327	Q15459	SF3A1_HUMAN	F	262;327;224;23	ENSP00000390336:V262F;ENSP00000215793:V327F	ENSP00000215793:V327F	V	-	1	0	SF3A1	29067773	1.000000	0.71417	0.998000	0.56505	0.940000	0.58332	7.739000	0.84976	2.837000	0.97791	0.655000	0.94253	GTC		0.562	SF3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320916.2	NM_005877		5	84	1	0	0.184627	1	0.190714	5	84					A	30737773	C	A	30737773	3	1	115	1	0	0	0	0	1	0	0	0	14146	507	18	5	1442	5	SF3A1	22	30737773	Missense_Mutation	SNP	C	TCGA-EJ-A46G-01A-31D-A26M-08		30737773	20566793	69	6188											
SPANXN1	494118	broad.mit.edu	37	chrX	144337212	144337212	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgcaggagacaccaaacaggGacttagcccccgaaccgagt	13	4	11	13	2	0	1	0	0	0	1	0	5	0	2	4	2	4	1	4	2	3	1			TCGA-EJ-A46G-01A-31D-A26M-08	TCGA-EJ-A46G-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc5e0ab-5177-49f7-8b17-e7782996202d	4f11c4f9-f9a5-424a-b0cb-8bf2f444e04a	g.chrX:144337212G>T	ENST00000370493.3	+	2	856	c.97G>T	c.(97-99)Gac>Tac	p.D33Y		NM_001009614.2	NP_001009614.1	Q5VSR9	SPXN1_HUMAN	SPANX family, member N1	33										endometrium(2)|kidney(2)|lung(8)|prostate(1)|urinary_tract(1)	14	Acute lymphoblastic leukemia(192;6.56e-05)					ACCAAACAGGGACTTAGCCCC	0.413																																						ENST00000370493.3																			0				endometrium(2)|kidney(2)|lung(8)|prostate(1)|urinary_tract(1)	14						c.(97-99)Gac>Tac		SPANX family, member N1							112	105	107					X																	144337212		2203	4297	6500	SO:0001583	missense	494118							g.chrX:144337212G>T		CCDS35421.1	Xq27.3	2009-03-25				ENSG00000203923			33174	protein-coding gene	gene with protein product	"cancer/testis antigen family 11, member 6"	300664				14973187, 17012309	Standard	NM_001009614		Approved	SPANX-N1, CT11.6	uc004fcb.2	Q5VSR9		ENST00000370493.3:c.97G>T	X.37:g.144337212G>T	ENSP00000359524:p.Asp33Tyr						p.D33Y	NM_001009614.2	NP_001009614.1	Q5VSR9	SPXN1_HUMAN			2	856	+	Acute lymphoblastic leukemia(192;6.56e-05)		33						Missense_Mutation	SNP	ENST00000370493.3	37	c.97G>T	CCDS35421.1	.	.	.	.	.	.	.	.	.	.	-	9.311	1.055453	0.19907	.	.	ENSG00000203923	ENST00000370493	T	0.10192	2.9	1.64	-3.28	0.05033	.	.	.	.	.	T	0.16257	0.0391	.	.	.	0.09310	N	1	D	0.61080	0.989	P	0.58331	0.837	T	0.03259	-1.1055	8	0.37606	T	0.19	.	4.0586	0.09827	0.2705:0.3993:0.3301:0.0	.	33	Q5VSR9	SPXN1_HUMAN	Y	33	ENSP00000359524:D33Y	ENSP00000359524:D33Y	D	+	1	0	SPANXN1	144144904	0.000000	0.05858	0.000000	0.03702	0.095000	0.18619	-0.030000	0.12308	-2.235000	0.00714	0.151000	0.16131	GAC		0.413	SPANXN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058631.2	NM_001009614		5	26	1	0	0.014758	1	0.0157642	5	26					T	144337212	G	T	144337212	3	4	115	1	0	0	0	0	1	0	0	0	14990	1174	41	5	103	5	SPANXN1	23	144337212	Missense_Mutation	SNP	G	TCGA-EJ-A46G-01A-31D-A26M-08		144337212	10933348	70	6189											
FOXB2	442425	broad.mit.edu	37	chr9	79635214	79635214	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tcagcagccgtctcaccccgGcaagatgcaggaggcggcgg	8	4	15	14	4	2	1	2	0	1	1	3	2	2	2	3	5	3	3	3	5	1	0			TCGA-EJ-A46H-01A-31D-A26M-08	TCGA-EJ-A46H-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e768ca-262b-4887-831d-be38e2fbded6	4a1b4f8f-a455-4055-bc01-504f65df35b8	g.chr9:79635214G>A	ENST00000376708.1	+	1	644	c.644G>A	c.(643-645)gGc>gAc	p.G215D		NM_001013735.1	NP_001013757.1	Q5VYV0	FOXB2_HUMAN	forkhead box B2	215					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|lung(8)|ovary(1)	10						TCTCACCCCGGCAAGATGCAG	0.761																																						ENST00000376708.1																			0				breast(1)|lung(8)|ovary(1)	10						c.(643-645)gGc>gAc		forkhead box B2							5	7	7					9																	79635214		1849	3728	5577	SO:0001583	missense	442425				brain development|embryo development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chr9:79635214G>A		CCDS35045.1	9q21.2	2008-02-05			ENSG00000204612	ENSG00000204612		"Forkhead boxes"	23315	protein-coding gene	gene with protein product							Standard	NM_001013735		Approved	bA159H20.4	uc004ako.1	Q5VYV0	OTTHUMG00000020051	ENST00000376708.1:c.644G>A	9.37:g.79635214G>A	ENSP00000365898:p.Gly215Asp						p.G215D	NM_001013735.1	NP_001013757.1	Q5VYV0	FOXB2_HUMAN			1	644	+			215						Missense_Mutation	SNP	ENST00000376708.1	37	c.644G>A	CCDS35045.1	.	.	.	.	.	.	.	.	.	.	G	13.32	2.203221	0.38905	.	.	ENSG00000204612	ENST00000376708	T	0.41065	1.01	2.79	2.79	0.32731	.	1.887600	0.03453	U	0.210908	T	0.26159	0.0638	N	0.22421	0.69	0.36692	D	0.879617	P	0.47762	0.9	B	0.36244	0.22	T	0.43877	-0.9364	10	0.23891	T	0.37	.	5.4513	0.16566	0.1587:0.0:0.8413:0.0	.	215	Q5VYV0	FOXB2_HUMAN	D	215	ENSP00000365898:G215D	ENSP00000365898:G215D	G	+	2	0	FOXB2	78825034	.	.	0.999000	0.59377	0.468000	0.32798	.	.	1.378000	0.46305	0.313000	0.20887	GGC		0.761	FOXB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052745.1	NM_001013735		3	20	0	0	0	1	0	3	20					A	79635214	G	A	79635214	3	1	116	1	0	0	0	0	1	0	0	0	5993	1203	42	3	646	3	FOXB2	9	79635214	Missense_Mutation	SNP	G	TCGA-EJ-A46H-01A-31D-A26M-08		79635214	61578217	1	6190											
UVRAG	7405	broad.mit.edu	37	chr11	75827023	75827023	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcggcaaacccttcccaaccTgaaaaacttcatggagcatg	13	7	8	13	1	1	1	1	1	0	0	2	2	2	2	3	2	4	2	3	2	4	2			TCGA-EJ-A46H-01A-31D-A26M-08	TCGA-EJ-A46H-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e768ca-262b-4887-831d-be38e2fbded6	4a1b4f8f-a455-4055-bc01-504f65df35b8	g.chr11:75827023T>C	ENST00000356136.3	+	14	1602	c.1361T>C	c.(1360-1362)cTg>cCg	p.L454P	UVRAG_ENST00000539288.1_Missense_Mutation_p.L82P|UVRAG_ENST00000533454.1_Missense_Mutation_p.L82P|UVRAG_ENST00000531818.1_Missense_Mutation_p.L82P|UVRAG_ENST00000532130.1_Missense_Mutation_p.L82P|UVRAG_ENST00000538870.1_5'UTR|UVRAG_ENST00000528420.1_Missense_Mutation_p.L353P	NM_003369.3	NP_003360.2	Q9P2Y5	UVRAG_HUMAN	UV radiation resistance associated	454					DNA repair (GO:0006281)|positive regulation of autophagy (GO:0010508)|SNARE complex assembly (GO:0035493)|viral entry into host cell (GO:0046718)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|late endosome (GO:0005770)|lysosome (GO:0005764)|phagocytic vesicle (GO:0045335)|protein complex (GO:0043234)				central_nervous_system(1)|cervix(3)|endometrium(3)|kidney(1)|large_intestine(2)|lung(15)|skin(5)|urinary_tract(2)	32						CTTCCCAACCTGAAAAACTTC	0.393																																						ENST00000356136.3																			0				central_nervous_system(1)|cervix(3)|endometrium(3)|kidney(1)|large_intestine(2)|lung(15)|skin(5)|urinary_tract(2)	32						c.(1360-1362)cTg>cCg		UV radiation resistance associated							87	76	80					11																	75827023		2200	4293	6493	SO:0001583	missense	7405				DNA repair|positive regulation of autophagy	early endosome|late endosome|lysosome	protein binding	g.chr11:75827023T>C	X99050, AB012958	CCDS8241.1	11q13	2012-11-15	2012-11-15		ENSG00000198382	ENSG00000198382			12640	protein-coding gene	gene with protein product	"beclin 1 binding protein"	602493	"UV radiation resistance associated gene"			9169138, 16799551, 18843052	Standard	NM_003369		Approved	VPS38	uc001oxc.3	Q9P2Y5	OTTHUMG00000165319	ENST00000356136.3:c.1361T>C	11.37:g.75827023T>C	ENSP00000348455:p.Leu454Pro					UVRAG_ENST00000531818.1_Missense_Mutation_p.L82P|UVRAG_ENST00000539288.1_Missense_Mutation_p.L82P|UVRAG_ENST00000533454.1_Missense_Mutation_p.L82P|UVRAG_ENST00000528420.1_Missense_Mutation_p.L353P|UVRAG_ENST00000538870.1_5'UTR|UVRAG_ENST00000532130.1_Missense_Mutation_p.L82P	p.L454P	NM_003369.3	NP_003360.2	Q9P2Y5	UVRAG_HUMAN			14	1602	+			454					B3KTC1|O00392	Missense_Mutation	SNP	ENST00000356136.3	37	c.1361T>C	CCDS8241.1	.	.	.	.	.	.	.	.	.	.	T	17.02	3.282267	0.59867	.	.	ENSG00000198382	ENST00000356136;ENST00000528420;ENST00000533454;ENST00000531818;ENST00000532130;ENST00000539288	T	0.74421	-0.84	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	D	0.87954	0.6308	M	0.88377	2.95	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.90059	0.4155	10	0.87932	D	0	-8.4706	14.1947	0.65662	0.0:0.0:0.0:1.0	.	454	Q9P2Y5	UVRAG_HUMAN	P	454;353;82;82;82;82	ENSP00000348455:L454P	ENSP00000348455:L454P	L	+	2	0	UVRAG	75504671	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	6.942000	0.75928	2.291000	0.77112	0.533000	0.62120	CTG		0.393	UVRAG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383430.1	NM_003369		3	24	0	0	0	1	0	3	24					C	75827023	T	C	75827023	3	2	116	1	0	0	0	0	1	0	0	0	17105	1580	55	4	1415	4	UVRAG	11	75827023	Missense_Mutation	SNP	T	TCGA-EJ-A46H-01A-31D-A26M-08		75827023	59179493	2	6191											
KCNA3	3738	broad.mit.edu	37	chr1	111217214	111217214	+	Frame_Shift_Del	DEL	G	G	-																															cgccacagccgccttgaggcGgggcccctccaccatcggcc																										TCGA-EJ-A46I-01A-12D-A26M-08	TCGA-EJ-A46I-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8cf1bbc-43e5-41b0-a9c7-bd58e88a2e8e	c0472d02-3ce9-46a1-a7af-29b75e27cb95	g.chr1:111217214delG	ENST00000369769.2	-	1	441	c.218delC	c.(217-219)ccgfs	p.P74fs		NM_002232.3	NP_002223.3	P22001	KCNA3_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 3	74					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	membrane raft (GO:0045121)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|outward rectifier potassium channel activity (GO:0015271)|voltage-gated ion channel activity (GO:0005244)			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(7)|ovary(4)|pancreas(1)|prostate(3)|skin(1)	38		all_cancers(81;3.92e-06)|all_epithelial(167;1.28e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Lung(183;0.0235)|Colorectal(144;0.0306)|all cancers(265;0.0752)|Epithelial(280;0.0821)|COAD - Colon adenocarcinoma(174;0.132)|LUSC - Lung squamous cell carcinoma(189;0.133)	Dalfampridine(DB06637)	GCCTTGAGGCGGGGCCCCTCC	0.781																																						ENST00000369769.2																			0				endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(7)|ovary(4)|pancreas(1)|prostate(3)|skin(1)	38						c.(217-219)cgfs		potassium voltage-gated channel, shaker-related subfamily, member 3							4	5	4					1																	111217214		1378	3095	4473	SO:0001589	frameshift_variant	3738					voltage-gated potassium channel complex	delayed rectifier potassium channel activity	g.chr1:111217214delG	L23499	CCDS828.2	1p13.3	2012-07-05			ENSG00000177272	ENSG00000177272		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6221	protein-coding gene	gene with protein product		176263				2251283, 16382104	Standard	NM_002232		Approved	Kv1.3, MK3, HLK3, HPCN3	uc001dzv.1	P22001	OTTHUMG00000034493	ENST00000369769.2:c.218delC	1.37:g.111217214delG	ENSP00000358784:p.Pro74fs						p.P74fs	NM_002232.3	NP_002223.3	P22001	KCNA3_HUMAN		Lung(183;0.0235)|Colorectal(144;0.0306)|all cancers(265;0.0752)|Epithelial(280;0.0821)|COAD - Colon adenocarcinoma(174;0.132)|LUSC - Lung squamous cell carcinoma(189;0.133)	1	441	-		all_cancers(81;3.92e-06)|all_epithelial(167;1.28e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)	74					Q5VWN2	Frame_Shift_Del	DEL	ENST00000369769.2	37	c.218delC	CCDS828.2																																																																																				0.781	KCNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083391.1	NM_002232		3	6						3	6	---	---	---	---	-	111217214	G	-	111217214	7	5	117	1	0	1	0	1	0	0	0	0	8004	1116	39	0	1513	0	KCNA3	1	111217214	Frame_Shift_Del	DEL	G	TCGA-EJ-A46I-01A-12D-A26M-08		111217214	138033407	1	6192											
NBPF15	284565	broad.mit.edu	37	chr1	148594507	148594507	+	Frame_Shift_Del	DEL	A	A	-																															acaacctgactcattccagcActacagaagtgtgttttact																								rs587683207	byFrequency	TCGA-EJ-A46I-01A-12D-A26M-08	TCGA-EJ-A46I-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8cf1bbc-43e5-41b0-a9c7-bd58e88a2e8e	c0472d02-3ce9-46a1-a7af-29b75e27cb95	g.chr1:148594507delA	ENST00000369187.3	+	19	2369	c.1880delA	c.(1879-1881)cacfs	p.H627fs	NBPF15_ENST00000442702.2_Frame_Shift_Del_p.H627fs	NM_173638.3	NP_775909.2	Q8N660	NBPFF_HUMAN	neuroblastoma breakpoint family, member 15	627	NBPF 6. {ECO:0000255|PROSITE- ProRule:PRU00647}.					cytoplasm (GO:0005737)				NS(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|skin(2)	12	all_hematologic(923;0.032)					TCATTCCAGCACTACAGAAGT	0.443													|||unknown(NO_COVERAGE)	3	0.000599042	0	0	5008	,	,		20293	0		0.003	False		,,,				2504	0					ENST00000442702.2																			0				NS(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|skin(2)	12						c.(1879-1881)ccfs		neuroblastoma breakpoint family, member 15			,	1,4113		0,1,2056	219	288	265		,	-1	0	1		268	9,8225		1,7,4109	no	frameshift,frameshift	NBPF15	NM_173638.3,NM_001170755.1	,	1,8,6165	A1A1,A1R,RR		0.1093,0.0243,0.081	,	,	148594507	10,12338	2159	4294	6453	SO:0001589	frameshift_variant	284565					cytoplasm		g.chr1:148594507delA	BC023087	CCDS72852.1	1q21.1	2014-01-16			ENSG00000243452	ENSG00000266338		"neuroblastoma breakpoint family"	28791	protein-coding gene	gene with protein product		610414, 614005	"neuroblastoma breakpoint family, member 16"	NBPF16		16079250	Standard	NM_173638		Approved	MGC8902	uc001esc.2	Q8N660	OTTHUMG00000013634	ENST00000369187.3:c.1880delA	1.37:g.148594507delA	ENSP00000358188:p.His627fs					NBPF15_ENST00000369187.3_Frame_Shift_Del_p.H627fs	p.H627fs	NM_001170755.1	NP_001164226.1	Q8N660	NBPFF_HUMAN			21	2947	+	all_hematologic(923;0.032)		627			NBPF 6.		Q3BBV9|Q8IX77	Frame_Shift_Del	DEL	ENST00000369187.3	37	c.1880delA	CCDS932.1																																																																																				0.443	NBPF15-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038609.3	NM_173638		7	318						7	318	---	---	---	---	-	148594507	A	-	148594507	7	5	117	1	0	1	0	1	0	0	0	0	10195	159	6	0	1938	0	NBPF15	1	148594507	Frame_Shift_Del	DEL	A	TCGA-EJ-A46I-01A-12D-A26M-08	37377293	148594507	100656114	2	6193											
ATP2B2	491	broad.mit.edu	37	chr3	10413688	10413688	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgtggcattgcccatggtCtcacaggcatccaggtggcg	6	9	14	12	1	1	0	1	0	1	0	3	0	2	0	2	5	1	3	2	5	0	1			TCGA-EJ-A46I-01A-12D-A26M-08	TCGA-EJ-A46I-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8cf1bbc-43e5-41b0-a9c7-bd58e88a2e8e	c0472d02-3ce9-46a1-a7af-29b75e27cb95	g.chr3:10413688C>A	ENST00000352432.4	-	11	1533	c.1464G>T	c.(1462-1464)gaG>gaT	p.E488D	ATP2B2_ENST00000397077.1_Missense_Mutation_p.E443D|ATP2B2_ENST00000383800.4_Missense_Mutation_p.E443D|ATP2B2_ENST00000360273.2_Missense_Mutation_p.E488D|ATP2B2_ENST00000343816.4_Missense_Mutation_p.E474D			Q01814	AT2B2_HUMAN	ATPase, Ca++ transporting, plasma membrane 2	488					auditory receptor cell stereocilium organization (GO:0060088)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cerebellar granule cell differentiation (GO:0021707)|cerebellar Purkinje cell differentiation (GO:0021702)|cGMP metabolic process (GO:0046068)|cochlea development (GO:0090102)|cytosolic calcium ion homeostasis (GO:0051480)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|ion transmembrane transport (GO:0034220)|lactation (GO:0007595)|locomotion (GO:0040011)|locomotory behavior (GO:0007626)|neuromuscular process controlling balance (GO:0050885)|neuron differentiation (GO:0030182)|organelle organization (GO:0006996)|otolith mineralization (GO:0045299)|positive regulation of calcium ion transport (GO:0051928)|regulation of cell size (GO:0008361)|regulation of synaptic plasticity (GO:0048167)|sensory perception of sound (GO:0007605)|serotonin metabolic process (GO:0042428)|synapse organization (GO:0050808)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cilium (GO:0005929)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calcium-dependent ATPase activity (GO:0030899)|calcium-transporting ATPase activity (GO:0005388)|calmodulin binding (GO:0005516)|metal ion binding (GO:0046872)|PDZ domain binding (GO:0030165)|protein C-terminus binding (GO:0008022)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						TGCCCATGGTCTCACAGGCAT	0.572																																					Ovarian(125;1619 1709 15675 19819 38835)	ENST00000397077.1																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						c.(1327-1329)gaG>gaT		ATPase, Ca++ transporting, plasma membrane 2							176	151	159					3																	10413688		2203	4300	6503	SO:0001583	missense	491				ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation	cytosol|integral to membrane|plasma membrane	ATP binding|calcium ion binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding	g.chr3:10413688C>A	X63575	CCDS2601.1, CCDS33701.1	3p25.3	2010-04-20	2001-12-04		ENSG00000157087	ENSG00000157087	3.6.3.8	"ATPases / P-type"	815	protein-coding gene	gene with protein product	"plasma membrane Ca2+ pump 2", "plasma membrane calcium-transporting ATPase 2"	108733				1313367	Standard	NM_001001331		Approved	PMCA2	uc003bvt.3	Q01814	OTTHUMG00000128679	ENST00000352432.4:c.1464G>T	3.37:g.10413688C>A	ENSP00000324172:p.Glu488Asp					ATP2B2_ENST00000383800.4_Missense_Mutation_p.E443D|ATP2B2_ENST00000360273.2_Missense_Mutation_p.E488D|ATP2B2_ENST00000352432.4_Missense_Mutation_p.E488D|ATP2B2_ENST00000343816.4_Missense_Mutation_p.E474D	p.E443D			Q01814	AT2B2_HUMAN			11	1904	-			488					O00766|Q12994|Q16818	Missense_Mutation	SNP	ENST00000352432.4	37	c.1329G>T	CCDS33701.1	.	.	.	.	.	.	.	.	.	.	C	14.99	2.700243	0.48307	.	.	ENSG00000157087	ENST00000352432;ENST00000383800;ENST00000397077;ENST00000360273;ENST00000343816;ENST00000535386;ENST00000452124;ENST00000342354	D;D;D;D;D;D	0.94723	-3.5;-3.5;-3.5;-3.5;-3.5;-3.5	4.71	2.93	0.34026	ATPase, P-type, cytoplasmic domain N (1);ATPase, P-type, ATPase-associated domain (1);	0.105377	0.64402	D	0.000005	D	0.97751	0.9262	H	0.97516	4.02	0.80722	D	1	B;D;D	0.69078	0.053;0.997;0.991	B;D;P	0.68765	0.024;0.96;0.899	D	0.96651	0.9481	10	0.87932	D	0	-15.1601	8.297	0.31990	0.0:0.6835:0.0:0.3165	.	423;455;488	F5H7F7;Q4LE63;Q01814	.;.;AT2B2_HUMAN	D	488;443;443;488;474;423;344;488	ENSP00000324172:E488D;ENSP00000373311:E443D;ENSP00000380267:E443D;ENSP00000353414:E488D;ENSP00000344677:E474D;ENSP00000414854:E344D	ENSP00000342954:E488D	E	-	3	2	ATP2B2	10388688	0.998000	0.40836	0.998000	0.56505	0.996000	0.88848	0.560000	0.23500	0.602000	0.29896	0.655000	0.94253	GAG		0.572	ATP2B2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000250576.2	NM_001683		6	67	1	0	2.0095e-06	1	2.55754e-06	6	67					A	10413688	C	A	10413688	3	1	117	1	0	0	0	0	1	0	0	0	1140	912	32	5	2315	5	ATP2B2	3	10413688	Missense_Mutation	SNP	C	TCGA-EJ-A46I-01A-12D-A26M-08		10413688	187608742	3	6194											
UTP15	84135	broad.mit.edu	37	chr5	72865483	72865483	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atgtgctagcaaacttaatcCggatctctttataacaggtt	12	14	7	8	1	1	0	0	0	1	0	3	1	2	1	1	2	4	3	1	2	5	6			TCGA-EJ-A46I-01A-12D-A26M-08	TCGA-EJ-A46I-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8cf1bbc-43e5-41b0-a9c7-bd58e88a2e8e	c0472d02-3ce9-46a1-a7af-29b75e27cb95	g.chr5:72865483C>T	ENST00000296792.4	+	5	785	c.530C>T	c.(529-531)cCg>cTg	p.P177L	UTP15_ENST00000508491.1_Missense_Mutation_p.P158L|UTP15_ENST00000543251.1_5'UTR	NM_001284431.1|NM_032175.2	NP_001271360.1|NP_115551.2	Q8TED0	UTP15_HUMAN	UTP15, U3 small nucleolar ribonucleoprotein, homolog (S. cerevisiae)	177					rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|skin(2)	15		Lung NSC(167;0.00405)|Ovarian(174;0.0129)		OV - Ovarian serous cystadenocarcinoma(47;7.76e-55)		AAACTTAATCCGGATCTCTTT	0.373																																						ENST00000296792.4																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|skin(2)	15						c.(529-531)cCg>cTg		UTP15, U3 small nucleolar ribonucleoprotein, homolog (S. cerevisiae)							105	112	109					5																	72865483		2203	4300	6503	SO:0001583	missense	84135				rRNA processing	cytoplasm|nucleolus		g.chr5:72865483C>T	AL831972	CCDS34186.1, CCDS68893.1, CCDS68894.1	5q13.2	2013-01-10	2006-04-20		ENSG00000164338	ENSG00000164338		"WD repeat domain containing"	25758	protein-coding gene	gene with protein product			"UTP15, U3 small nucleolar ribonucleoprotein, homolog (yeast)"			12477932	Standard	NM_032175		Approved	FLJ12787, NET21, FLJ23637	uc003kcw.1	Q8TED0	OTTHUMG00000162453	ENST00000296792.4:c.530C>T	5.37:g.72865483C>T	ENSP00000296792:p.Pro177Leu					UTP15_ENST00000508491.1_Missense_Mutation_p.P158L|UTP15_ENST00000543251.1_5'UTR	p.P177L	NM_032175.2	NP_115551.2	Q8TED0	UTP15_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;7.76e-55)	5	785	+		Lung NSC(167;0.00405)|Ovarian(174;0.0129)	177					B4DU75|B4DXK8|Q6IA60|Q96E08|Q9H9F8	Missense_Mutation	SNP	ENST00000296792.4	37	c.530C>T	CCDS34186.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.73|13.73	2.325387|2.325387	0.41197|0.41197	.|.	.|.	ENSG00000164338|ENSG00000164338	ENST00000296792;ENST00000508491|ENST00000509005	T;T|.	0.19532|.	2.14;2.14|.	5.79|5.79	4.87|4.87	0.63330|0.63330	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);|.	0.689312|.	0.15786|.	N|.	0.244677|.	T|T	0.64427|0.64427	0.2597|0.2597	M|M	0.62266|0.62266	1.93|1.93	0.80722|0.80722	D|D	1|1	P;B|.	0.36378|.	0.55;0.396|.	B;B|.	0.25987|.	0.065;0.065|.	T|T	0.62006|0.62006	-0.6945|-0.6945	10|5	0.42905|.	T|.	0.14|.	.|.	10.7341|10.7341	0.46115|0.46115	0.2451:0.6323:0.1225:0.0|0.2451:0.6323:0.1225:0.0	.|.	158;177|.	B4DXK8;Q8TED0|.	.;UTP15_HUMAN|.	L|W	177;158|204	ENSP00000296792:P177L;ENSP00000424609:P158L|.	ENSP00000296792:P177L|.	P|R	+|+	2|1	0|2	UTP15|UTP15	72901239|72901239	0.738000|0.738000	0.28186|0.28186	0.996000|0.996000	0.52242|0.52242	0.978000|0.978000	0.69477|0.69477	2.938000|2.938000	0.48987|0.48987	2.733000|2.733000	0.93635|0.93635	0.655000|0.655000	0.94253|0.94253	CCG|CGG		0.373	UTP15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368965.1	NM_032175		4	32	0	0	0	1	0	4	32					T	72865483	C	T	72865483	3	4	117	1	0	0	0	0	1	0	0	0	17094	652	23	2	544	2	UTP15	5	72865483	Missense_Mutation	SNP	C	TCGA-EJ-A46I-01A-12D-A26M-08		72865483	108049777	4	6195											
ZDHHC14	79683	broad.mit.edu	37	chr6	158093924	158093924	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggcccgcccacaccgcccGcctccatgcccaacctcgcc	5	4	8	24	4	0	0	0	0	0	0	2	0	1	0	9	1	2	0	9	1	1	0	rs368519191		TCGA-EJ-A46I-01A-12D-A26M-08	TCGA-EJ-A46I-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8cf1bbc-43e5-41b0-a9c7-bd58e88a2e8e	c0472d02-3ce9-46a1-a7af-29b75e27cb95	g.chr6:158093924G>A	ENST00000359775.5	+	9	2126	c.1237G>A	c.(1237-1239)Gcc>Acc	p.A413T	ZDHHC14_ENST00000341375.8_3'UTR|ZDHHC14_ENST00000414563.2_Missense_Mutation_p.A398T			Q8IZN3	ZDH14_HUMAN	zinc finger, DHHC-type containing 14	413					protein palmitoylation (GO:0018345)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(8)|ovary(1)|skin(1)	17		Breast(66;0.00586)|Ovarian(120;0.123)		OV - Ovarian serous cystadenocarcinoma(65;2.9e-17)|BRCA - Breast invasive adenocarcinoma(81;5.8e-05)		CACACCGCCCGCCTCCATGCC	0.721																																						ENST00000359775.5																			0				central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(8)|ovary(1)|skin(1)	17						c.(1237-1239)Gcc>Acc		zinc finger, DHHC-type containing 14		G	THR/ALA,THR/ALA	1,4363		0,1,2181	14	14	14		1192,1237	3.3	1	6		14	0,8498		0,0,4249	no	missense,missense	ZDHHC14	NM_153746.1,NM_024630.2	58,58	0,1,6430	AA,AG,GG		0.0,0.0229,0.0078	benign,benign	398/474,413/489	158093924	1,12861	2182	4249	6431	SO:0001583	missense	79683					integral to membrane	acyltransferase activity|zinc ion binding	g.chr6:158093924G>A	AF542388	CCDS5252.1, CCDS47510.1	6q25.3	2008-05-02			ENSG00000175048	ENSG00000175048		"Zinc fingers, DHHC-type"	20341	protein-coding gene	gene with protein product							Standard	NM_024630		Approved	FLJ20984, NEW1CP	uc003qqt.3	Q8IZN3	OTTHUMG00000015896	ENST00000359775.5:c.1237G>A	6.37:g.158093924G>A	ENSP00000352821:p.Ala413Thr					ZDHHC14_ENST00000414563.2_Missense_Mutation_p.A398T|ZDHHC14_ENST00000341375.8_3'UTR	p.A413T			Q8IZN3	ZDH14_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.9e-17)|BRCA - Breast invasive adenocarcinoma(81;5.8e-05)	9	2126	+		Breast(66;0.00586)|Ovarian(120;0.123)	413					A6NDB7|Q5JS07|Q5JS08|Q6PHS4|Q8IZN2|Q9H7F1	Missense_Mutation	SNP	ENST00000359775.5	37	c.1237G>A	CCDS5252.1	.	.	.	.	.	.	.	.	.	.	G	12.99	2.104488	0.37145	2.29E-4	0.0	ENSG00000175048	ENST00000359775;ENST00000414563;ENST00000538483	T;T	0.25749	1.78;1.78	5.62	3.27	0.37495	.	0.603917	0.17474	N	0.172965	T	0.03477	0.0100	N	0.03608	-0.345	0.35970	D	0.835255	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.38045	-0.9679	10	0.18710	T	0.47	-20.7431	6.2295	0.20726	0.0:0.1435:0.1431:0.7133	.	413;398	Q8IZN3;Q8IZN3-2	ZDH14_HUMAN;.	T	413;398;417	ENSP00000352821:A413T;ENSP00000410713:A398T	ENSP00000352821:A413T	A	+	1	0	ZDHHC14	158013912	1.000000	0.71417	1.000000	0.80357	0.854000	0.48673	1.590000	0.36654	2.642000	0.89623	0.563000	0.77884	GCC		0.721	ZDHHC14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042841.2	NM_153746		3	14	0	0	0	1	0	3	14					A	158093924	G	A	158093924	3	1	117	1	0	0	0	0	1	0	0	0	17601	1087	38	1	1271	1	ZDHHC14	6	158093924	Missense_Mutation	SNP	G	TCGA-EJ-A46I-01A-12D-A26M-08		158093924	13021143	5	6196											
XPO4	64328	broad.mit.edu	37	chr13	21417934	21417934	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaactcttttgcagttaccaTggaattccatgctcaatcca	12	13	5	11	0	2	0	1	0	1	0	4	1	4	1	3	1	4	3	3	1	4	4			TCGA-EJ-A46I-01A-12D-A26M-08	TCGA-EJ-A46I-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8cf1bbc-43e5-41b0-a9c7-bd58e88a2e8e	c0472d02-3ce9-46a1-a7af-29b75e27cb95	g.chr13:21417934T>A	ENST00000255305.6	-	5	619	c.548A>T	c.(547-549)cAt>cTt	p.H183L	XPO4_ENST00000400602.2_Missense_Mutation_p.H183L			Q9C0E2	XPO4_HUMAN	exportin 4	183					positive regulation of protein export from nucleus (GO:0046827)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(1)|endometrium(10)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	41		all_cancers(29;5.05e-24)|all_epithelial(30;5.56e-20)|all_lung(29;2.38e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)		all cancers(112;0.000521)|Epithelial(112;0.000892)|OV - Ovarian serous cystadenocarcinoma(117;0.0148)|Lung(94;0.0189)|LUSC - Lung squamous cell carcinoma(192;0.0548)		GCAGTTACCATGGAATTCCAT	0.338																																						ENST00000400602.2																			0				breast(1)|endometrium(10)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	41						c.(547-549)cAt>cTt		exportin 4							108	98	101					13																	21417934		1837	4085	5922	SO:0001583	missense	64328				protein transport	cytoplasm|nucleus	protein binding	g.chr13:21417934T>A	AB051508	CCDS41872.1	13q11	2011-04-13			ENSG00000132953	ENSG00000132953		"Exportins"	17796	protein-coding gene	gene with protein product		611449				11214970, 10944119	Standard	NM_022459		Approved	FLJ13046, KIAA1721	uc001unq.4	Q9C0E2	OTTHUMG00000016528	ENST00000255305.6:c.548A>T	13.37:g.21417934T>A	ENSP00000255305:p.His183Leu					XPO4_ENST00000255305.6_Missense_Mutation_p.H183L	p.H183L	NM_022459.4	NP_071904.4	Q9C0E2	XPO4_HUMAN		all cancers(112;0.000521)|Epithelial(112;0.000892)|OV - Ovarian serous cystadenocarcinoma(117;0.0148)|Lung(94;0.0189)|LUSC - Lung squamous cell carcinoma(192;0.0548)	5	583	-		all_cancers(29;5.05e-24)|all_epithelial(30;5.56e-20)|all_lung(29;2.38e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)	183					Q5VUZ5|Q8N3V6|Q9H934	Missense_Mutation	SNP	ENST00000255305.6	37	c.548A>T	CCDS41872.1	.	.	.	.	.	.	.	.	.	.	T	25.8	4.674251	0.88445	.	.	ENSG00000132953	ENST00000400602;ENST00000456108;ENST00000255305	T;T	0.64438	-0.1;-0.1	6.07	6.07	0.98685	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.80727	0.4678	M	0.81341	2.54	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.82643	-0.0356	10	0.62326	D	0.03	-7.7734	16.6407	0.85098	0.0:0.0:0.0:1.0	.	183	Q9C0E2	XPO4_HUMAN	L	183;53;183	ENSP00000383444:H183L;ENSP00000255305:H183L	ENSP00000255305:H183L	H	-	2	0	XPO4	20315934	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.698000	0.84413	2.326000	0.78906	0.533000	0.62120	CAT		0.338	XPO4-001	KNOWN	non_canonical_conserved|non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000044096.1	NM_022459		6	27	0	0	0	1	0	6	27					A	21417934	T	A	21417934	3	1	117	1	0	0	0	0	1	0	0	0	17443	1464	51	5	2983	5	XPO4	13	21417934	Missense_Mutation	SNP	T	TCGA-EJ-A46I-01A-12D-A26M-08		21417934	93751944	6	6197											
RYR3	6263	broad.mit.edu	37	chr15	33941374	33941374	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ttgtacagtgaaaagtttgaCctgaataaaaactgcacagt	16	11	8	6	0	0	3	0	3	0	0	0	3	0	3	1	0	3	3	1	0	7	4			TCGA-EJ-A46I-01A-12D-A26M-08	TCGA-EJ-A46I-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8cf1bbc-43e5-41b0-a9c7-bd58e88a2e8e	c0472d02-3ce9-46a1-a7af-29b75e27cb95	g.chr15:33941374C>T	ENST00000389232.4	+	31	4150	c.4080C>T	c.(4078-4080)gaC>gaT	p.D1360D	RYR3_ENST00000415757.3_Silent_p.D1360D	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	1360	4 X approximate repeats.|B30.2/SPRY 3. {ECO:0000255|PROSITE- ProRule:PRU00548}.				calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		AAAAGTTTGACCTGAATAAAA	0.532																																						ENST00000389232.4																			0				NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311						c.(4078-4080)gaC>gaT		ryanodine receptor 3							132	134	133					15																	33941374		1955	4134	6089	SO:0001819	synonymous_variant	6263				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr15:33941374C>T		CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"Ion channels / Ryanodine receptors", "EF-hand domain containing"	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.4080C>T	15.37:g.33941374C>T						RYR3_ENST00000415757.3_Silent_p.D1360D	p.D1360D	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)	31	4150	+		all_lung(180;7.18e-09)	1360			4 X approximate repeats.|B30.2/SPRY 3.		O15175|Q15412	Silent	SNP	ENST00000389232.4	37	c.4080C>T	CCDS45210.1																																																																																				0.532	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1			6	102	0	0	0	1	0	6	102					T	33941374	C	T	33941374	2	4	117	1	0	0	0	0	0	0	0	1	13770	506	18	3		3	RYR3	15	33941374	Silent	SNP	C	TCGA-EJ-A46I-01A-12D-A26M-08		33941374	68590018	7	6198											
DTNA	1837	broad.mit.edu	37	chr18	32418795	32418795	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	caacatgctccggaacaaccCctcatggttagtgcaggttt	10	10	9	12	1	1	0	1	0	0	0	2	1	2	1	3	3	5	4	3	3	4	2			TCGA-EJ-A46I-01A-12D-A26M-08	TCGA-EJ-A46I-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8cf1bbc-43e5-41b0-a9c7-bd58e88a2e8e	c0472d02-3ce9-46a1-a7af-29b75e27cb95	g.chr18:32418795C>A	ENST00000399113.3	+	12	1259	c.1259C>A	c.(1258-1260)cCc>cAc	p.P420H	DTNA_ENST00000601125.1_Intron|DTNA_ENST00000597674.1_Intron|DTNA_ENST00000444659.1_Missense_Mutation_p.P420H|DTNA_ENST00000598774.1_Intron|DTNA_ENST00000269190.7_Missense_Mutation_p.P421H|DTNA_ENST00000399097.3_Intron|DTNA_ENST00000598334.1_Intron|DTNA_ENST00000269191.6_Missense_Mutation_p.P420H|DTNA_ENST00000598142.1_Intron|DTNA_ENST00000595022.1_Intron|DTNA_ENST00000597599.1_Intron|DTNA_ENST00000591182.1_Intron|DTNA_ENST00000556414.3_Intron|DTNA_ENST00000399121.5_Intron|DTNA_ENST00000596745.1_Intron|DTNA_ENST00000283365.9_Intron|DTNA_ENST00000599844.1_Intron|DTNA_ENST00000348997.5_Missense_Mutation_p.P417H|DTNA_ENST00000269192.7_Missense_Mutation_p.P129H			Q9Y4J8	DTNA_HUMAN	dystrobrevin, alpha	420	Syntrophin-binding region.				neuromuscular synaptic transmission (GO:0007274)|signal transduction (GO:0007165)|striated muscle contraction (GO:0006941)|synaptic transmission (GO:0007268)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|synapse (GO:0045202)	calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)			endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(2)|lung(19)|prostate(1)|upper_aerodigestive_tract(1)	29						CGGAACAACCCCTCATGGTTA	0.512																																						ENST00000444659.1																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(2)|lung(19)|prostate(1)|upper_aerodigestive_tract(1)	29						c.(1258-1260)cCc>cAc		dystrobrevin, alpha							159	116	130					18																	32418795		2203	4300	6503	SO:0001583	missense	1837				neuromuscular synaptic transmission|signal transduction|striated muscle contraction	cell junction|cytoplasm|synapse	calcium ion binding|protein binding|zinc ion binding	g.chr18:32418795C>A	U84540	CCDS11908.1, CCDS11909.1, CCDS42426.1, CCDS45848.1, CCDS56060.1, CCDS56061.1, CCDS56062.1, CCDS56063.1, CCDS59309.1, CCDS59310.1, CCDS59311.1, CCDS59312.1, CCDS59313.1, CCDS59314.1	18q12	2014-09-17			ENSG00000134769	ENSG00000134769			3057	protein-coding gene	gene with protein product	"dystrophin-related protein 3"	601239				8081380, 15834686	Standard	NM_001390		Approved	D18S892E, DTN, DTN-1, DTN-2, DTN-3, DRP3	uc010dmn.1	Q9Y4J8	OTTHUMG00000132309	ENST00000399113.3:c.1259C>A	18.37:g.32418795C>A	ENSP00000382064:p.Pro420His					DTNA_ENST00000591182.1_Intron|DTNA_ENST00000601125.1_Intron|DTNA_ENST00000556414.3_Intron|DTNA_ENST00000269190.7_Missense_Mutation_p.P421H|DTNA_ENST00000269192.7_Missense_Mutation_p.P129H|DTNA_ENST00000269191.6_Missense_Mutation_p.P420H|DTNA_ENST00000283365.9_Intron|DTNA_ENST00000399113.3_Missense_Mutation_p.P420H|DTNA_ENST00000599844.1_Intron|DTNA_ENST00000595022.1_Intron|DTNA_ENST00000399097.3_Intron|DTNA_ENST00000598334.1_Intron|DTNA_ENST00000598142.1_Intron|DTNA_ENST00000598774.1_Intron|DTNA_ENST00000597599.1_Intron|DTNA_ENST00000596745.1_Intron|DTNA_ENST00000348997.5_Missense_Mutation_p.P417H|DTNA_ENST00000399121.5_Intron|DTNA_ENST00000597674.1_Intron	p.P420H	NM_001390.4	NP_001381.2	Q9Y4J8	DTNA_HUMAN			12	1260	+			420			Syntrophin-binding region.		A8K541|A8MSZ0|A8MUY4|B4DGS6|B4DIR0|B4DIU8|M0QYX6|M0R397|O15332|O15333|O75697|Q13197|Q13198|Q13199|Q13498|Q13499|Q13500|Q59GK7|Q9BS59	Missense_Mutation	SNP	ENST00000399113.3	37	c.1259C>A	CCDS59311.1	.	.	.	.	.	.	.	.	.	.	C	16.54	3.152752	0.57259	.	.	ENSG00000134769	ENST00000269190;ENST00000348997;ENST00000399121;ENST00000444659;ENST00000269191;ENST00000399113;ENST00000269192	D;D;D;D;D;D	0.82255	-1.59;-1.59;-1.59;-1.59;-1.59;-1.59	5.95	5.95	0.96441	.	0.112829	0.64402	D	0.000009	T	0.79799	0.4508	L	0.43152	1.355	0.80722	D	1	B;B;B;B	0.25955	0.005;0.138;0.001;0.001	B;B;B;B	0.25405	0.019;0.06;0.001;0.001	T	0.74618	-0.3605	10	0.41790	T	0.15	-14.108	18.5553	0.91081	0.0:1.0:0.0:0.0	.	129;420;420;417	B4DIR0;Q9Y4J8;Q9Y4J8-3;Q9Y4J8-4	.;DTNA_HUMAN;.;.	H	421;417;420;420;420;420;129	ENSP00000269190:P421H;ENSP00000336682:P417H;ENSP00000405819:P420H;ENSP00000269191:P420H;ENSP00000382064:P420H;ENSP00000269192:P129H	ENSP00000269190:P421H	P	+	2	0	DTNA	30672793	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	4.107000	0.57811	2.817000	0.96982	0.563000	0.77884	CCC		0.512	DTNA-005	PUTATIVE	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255422.2	NM_001390		4	32	1	0	0.150653	1	0.156233	4	32					A	32418795	C	A	32418795	3	1	117	1	0	0	0	0	1	0	0	0	4788	623	22	5	1340	5	DTNA	18	32418795	Missense_Mutation	SNP	C	TCGA-EJ-A46I-01A-12D-A26M-08		32418795	45658453	8	6199											
MBD3	53615	broad.mit.edu	37	chr19	1585131	1585131	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	catcagcatcttgcccgtgcGgaagtcgaaggtgctcaggt	8	9	13	11	3	3	0	2	0	1	0	4	2	3	1	1	3	4	2	1	3	2	1			TCGA-EJ-A46I-01A-12D-A26M-08	TCGA-EJ-A46I-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8cf1bbc-43e5-41b0-a9c7-bd58e88a2e8e	c0472d02-3ce9-46a1-a7af-29b75e27cb95	g.chr19:1585131G>T	ENST00000434436.3	-	2	322	c.193C>A	c.(193-195)Cgc>Agc	p.R65S	MBD3_ENST00000156825.1_Missense_Mutation_p.R65S|MBD3_ENST00000590550.2_Missense_Mutation_p.R9S|MBD3_ENST00000585967.1_5'UTR|AC005943.4_ENST00000592406.1_RNA|MBD3_ENST00000592012.1_Missense_Mutation_p.R33S|UQCR11_ENST00000585937.1_3'UTR	NM_001281453.1	NP_001268382.1	O95983	MBD3_HUMAN	methyl-CpG binding domain protein 3	65	MBD. {ECO:0000255|PROSITE- ProRule:PRU00338}.				ATP-dependent chromatin remodeling (GO:0043044)|histone acetylation (GO:0016573)|in utero embryonic development (GO:0001701)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|tissue development (GO:0009888)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nuclear chromatin (GO:0000790)|NuRD complex (GO:0016581)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|methyl-CpG binding (GO:0008327)			central_nervous_system(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	8		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.179)|STAD - Stomach adenocarcinoma(1328;0.18)		TTGCCCGTGCGGAAGTCGAAG	0.657																																						ENST00000590550.2																			0				central_nervous_system(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	8						c.(25-27)Cgc>Agc		methyl-CpG binding domain protein 3							79	55	63					19																	1585131		2203	4300	6503	SO:0001583	missense	53615				transcription, DNA-dependent	NuRD complex	DNA binding|protein binding	g.chr19:1585131G>T	AF072247	CCDS12072.1, CCDS62481.1	19p13	2008-07-17				ENSG00000071655			6918	protein-coding gene	gene with protein product		603573				9774669, 10441743	Standard	NM_001281454		Approved		uc002ltl.1	O95983		ENST00000434436.3:c.193C>A	19.37:g.1585131G>T	ENSP00000412302:p.Arg65Ser					MBD3_ENST00000585967.1_5'UTR|MBD3_ENST00000156825.1_Missense_Mutation_p.R65S|MBD3_ENST00000592012.1_Missense_Mutation_p.R33S|MBD3_ENST00000434436.3_Missense_Mutation_p.R65S	p.R9S			O95983	MBD3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.179)|STAD - Stomach adenocarcinoma(1328;0.18)	1	398	-		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)	65			MBD.		A8K4B7|D6W5Z2|Q6PIL9|Q6PJZ9|Q86XF4	Missense_Mutation	SNP	ENST00000434436.3	37	c.25C>A	CCDS12072.1	.	.	.	.	.	.	.	.	.	.	G	25.2	4.612472	0.87258	.	.	ENSG00000071655	ENST00000434436;ENST00000156825	D	0.99311	-5.73	5.09	5.09	0.68999	Methyl-CpG DNA binding (4);DNA-binding, integrase-type (1);	0.051815	0.85682	D	0.000000	D	0.99162	0.9710	L	0.55017	1.72	0.53688	D	0.999977	D;P	0.89917	1.0;0.766	D;P	0.87578	0.998;0.5	D	0.99846	1.1066	10	0.54805	T	0.06	-36.7404	17.4574	0.87611	0.0:0.0:1.0:0.0	.	33;65	O95983-2;O95983	.;MBD3_HUMAN	S	33;65	ENSP00000156825:R65S	ENSP00000156825:R65S	R	-	1	0	MBD3	1536131	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	6.278000	0.72614	2.373000	0.80994	0.462000	0.41574	CGC		0.657	MBD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449658.2	NM_003926		3	23	1	0	1	1	1	3	23					T	1585131	G	T	1585131	3	4	117	1	0	0	0	0	1	0	0	0	9344	1116	39	5	702	5	MBD3	19	1585131	Missense_Mutation	SNP	G	TCGA-EJ-A46I-01A-12D-A26M-08		1585131	57543852	9	6200											
FUT3	2525	broad.mit.edu	37	chr19	5844672	5844672	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaggatcaggagggtggggCgggtgggagtggtgtcctgt	5	8	23	5	1	1	0	1	0	0	0	2	3	2	3	1	8	0	1	1	8	0	0	rs148881389	byFrequency	TCGA-EJ-A46I-01A-12D-A26M-08	TCGA-EJ-A46I-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8cf1bbc-43e5-41b0-a9c7-bd58e88a2e8e	c0472d02-3ce9-46a1-a7af-29b75e27cb95	g.chr19:5844672C>G	ENST00000303225.6	-	3	813	c.179G>C	c.(178-180)cGc>cCc	p.R60P	FUT3_ENST00000589918.1_Missense_Mutation_p.R60P|AC024592.9_ENST00000589276.1_RNA|FUT3_ENST00000589620.1_Missense_Mutation_p.R60P|FUT3_ENST00000593144.1_5'Flank|FUT3_ENST00000458379.2_Missense_Mutation_p.R60P	NM_000149.3	NP_000140	P21217	FUT3_HUMAN	fucosyltransferase 3 (galactoside 3(4)-L-fucosyltransferase, Lewis blood group)	60					cell-cell recognition (GO:0009988)|fucosylation (GO:0036065)|macromolecule glycosylation (GO:0043413)|oligosaccharide biosynthetic process (GO:0009312)|protein glycosylation (GO:0006486)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity (GO:0017060)|alpha-(1->3)-fucosyltransferase activity (GO:0046920)|fucosyltransferase activity (GO:0008417)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(1)	14						GAGGGTGGGGCGGGTGGGAGT	0.632																																					Esophageal Squamous(82;745 1728 24593 44831)	ENST00000303225.6																			0				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(1)	14						c.(178-180)cGc>cCc		fucosyltransferase 3 (galactoside 3(4)-L-fucosyltransferase, Lewis blood group)							24	27	26					19																	5844672		2201	4298	6499	SO:0001583	missense	2525				protein glycosylation	Golgi cisterna membrane|integral to membrane|membrane fraction	3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity	g.chr19:5844672C>G		CCDS12153.1	19p13.3	2014-07-19	2006-01-12		ENSG00000171124	ENSG00000171124	2.4.1.65	"CD molecules", "Blood group antigens", "Fucosyltransferases"	4014	protein-coding gene	gene with protein product		111100	"fucosyltransferase 3 (galactoside 3(4)-L-fucosyltransferase, Lewis blood group included)"	LE		1977660, 1740457	Standard	NM_000149		Approved	CD174	uc002mdk.2	P21217	OTTHUMG00000180614	ENST00000303225.6:c.179G>C	19.37:g.5844672C>G	ENSP00000305603:p.Arg60Pro					FUT3_ENST00000458379.2_Missense_Mutation_p.R60P|FUT3_ENST00000589620.1_Missense_Mutation_p.R60P|FUT3_ENST00000589918.1_Missense_Mutation_p.R60P	p.R60P	NM_000149.3	NP_000140.1	P21217	FUT3_HUMAN			3	813	-			60					B5U7U9|B5U7V0|Q32NE7|Q99448|Q99449	Missense_Mutation	SNP	ENST00000303225.6	37	c.179G>C	CCDS12153.1	.	.	.	.	.	.	.	.	.	.	C	9.278	1.047345	0.19827	.	.	ENSG00000171124	ENST00000303225;ENST00000458379	T;T	0.23348	1.91;1.91	2.33	-2.22	0.06952	.	29.287000	0.00496	N	0.000142	T	0.13798	0.0334	N	0.16016	0.355	0.09310	N	1	B;B;B;B	0.09022	0.002;0.002;0.001;0.002	B;B;B;B	0.09377	0.003;0.003;0.004;0.003	T	0.17930	-1.0353	10	0.39692	T	0.17	.	2.0701	0.03611	0.2532:0.3958:0.0:0.3511	.	60;60;60;60	B3W6H0;A8K737;B3GVC1;P21217	.;.;.;FUT3_HUMAN	P	60	ENSP00000305603:R60P;ENSP00000416443:R60P	ENSP00000305603:R60P	R	-	2	0	FUT3	5795672	0.000000	0.05858	0.003000	0.11579	0.363000	0.29612	-3.737000	0.00379	-0.116000	0.11893	0.205000	0.17691	CGC		0.632	FUT3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452204.1	NM_000149		9	29	0	0	0	1	0	9	29					G	5844672	C	G	5844672	3	3	117	1	0	0	0	0	1	0	0	0	6105	768	27	5	910	5	FUT3	19	5844672	Missense_Mutation	SNP	C	TCGA-EJ-A46I-01A-12D-A26M-08	4259541	5844672	53284311	10	6201											
ZNF331	55422	broad.mit.edu	37	chr19	54080131	54080131	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgtcaatcagatgatcatcaAttatgtcaaaagacctgcta	15	12	6	8	0	5	3	5	1	0	2	5	3	5	3	1	0	1	1	1	0	6	2			TCGA-EJ-A46I-01A-12D-A26M-08	TCGA-EJ-A46I-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8cf1bbc-43e5-41b0-a9c7-bd58e88a2e8e	c0472d02-3ce9-46a1-a7af-29b75e27cb95	g.chr19:54080131A>T	ENST00000253144.9	+	7	1650	c.317A>T	c.(316-318)aAt>aTt	p.N106I	ZNF331_ENST00000511593.2_Missense_Mutation_p.N106I|ZNF331_ENST00000511154.1_Missense_Mutation_p.N106I|ZNF331_ENST00000513265.1_Intron|ZNF331_ENST00000449416.1_Missense_Mutation_p.N106I|ZNF331_ENST00000513999.1_Missense_Mutation_p.N106I|ZNF331_ENST00000411977.2_Missense_Mutation_p.N106I|ZNF331_ENST00000512387.1_Missense_Mutation_p.N106I	NM_001253801.1|NM_018555.5	NP_001240730.1|NP_061025.5	Q9NQX6	ZN331_HUMAN	zinc finger protein 331	106					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			NS(1)|large_intestine(1)|lung(1)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	10				GBM - Glioblastoma multiforme(134;0.00555)		ATGATCATCAATTATGTCAAA	0.453			T	?	follicular thyroid adenoma																																	ENST00000253144.9				Dom	yes		19	19q13.3-q13.4	55422	T	zinc finger protein 331			E	?		follicular thyroid adenoma		0				NS(1)|large_intestine(1)|lung(1)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	10						c.(316-318)aAt>aTt		zinc finger protein 331							90	93	92					19																	54080131		2203	4300	6503	SO:0001583	missense	55422				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:54080131A>T	AF251515	CCDS33102.1	19q13	2013-12-10				ENSG00000130844		"Zinc fingers, C2H2-type", "-"	15489	protein-coding gene	gene with protein product	"rearranged in thyroid adenomas"	606043					Standard	NM_001079906		Approved	RITA, ZNF463, ZNF361	uc021uzh.1	Q9NQX6		ENST00000253144.9:c.317A>T	19.37:g.54080131A>T	ENSP00000253144:p.Asn106Ile					ZNF331_ENST00000449416.1_Missense_Mutation_p.N106I|ZNF331_ENST00000411977.2_Missense_Mutation_p.N106I|ZNF331_ENST00000513265.1_Intron|ZNF331_ENST00000512387.1_Missense_Mutation_p.N106I|ZNF331_ENST00000511593.2_Missense_Mutation_p.N106I|ZNF331_ENST00000511154.1_Missense_Mutation_p.N106I|ZNF331_ENST00000513999.1_Missense_Mutation_p.N106I	p.N106I	NM_001253801.1|NM_018555.5	NP_001240730.1|NP_061025.5	Q9NQX6	ZN331_HUMAN		GBM - Glioblastoma multiforme(134;0.00555)	7	1650	+			106					Q96GJ4	Missense_Mutation	SNP	ENST00000253144.9	37	c.317A>T	CCDS33102.1	.	.	.	.	.	.	.	.	.	.	A	4.076	0.012018	0.07912	.	.	ENSG00000130844	ENST00000253144;ENST00000511593;ENST00000449416;ENST00000411977;ENST00000511154;ENST00000513999;ENST00000512387;ENST00000514022;ENST00000505949	T;T;T;T;T;T;T;T;T	0.08458	3.23;3.23;3.23;3.23;3.23;3.23;3.23;3.31;3.09	2.64	-3.2	0.05156	.	1.025130	0.07840	N	0.962843	T	0.06645	0.0170	L	0.38175	1.15	0.09310	N	1	B	0.12630	0.006	B	0.12156	0.007	T	0.40590	-0.9555	10	0.41790	T	0.15	.	6.4745	0.22028	0.234:0.0:0.5979:0.1681	.	106	Q9NQX6	ZN331_HUMAN	I	106	ENSP00000253144:N106I;ENSP00000427439:N106I;ENSP00000393817:N106I;ENSP00000393336:N106I;ENSP00000421014:N106I;ENSP00000423156:N106I;ENSP00000421728:N106I;ENSP00000422471:N106I;ENSP00000427532:N106I	ENSP00000253144:N106I	N	+	2	0	ZNF331	58771943	.	.	0.000000	0.03702	0.002000	0.02628	.	.	-0.924000	0.03780	-0.456000	0.05471	AAT		0.453	ZNF331-008	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371366.1	NM_018555		4	48	0	0	0	1	0	4	48					T	54080131	A	T	54080131	3	4	117	1	0	0	0	0	1	0	0	0	17846	101	4	5	327	5	ZNF331	19	54080131	Missense_Mutation	SNP	A	TCGA-EJ-A46I-01A-12D-A26M-08	48235459	54080131	5048852	11	6202											
RPL11	6135	broad.mit.edu	37	chr1	24019112	24019112	+	Frame_Shift_Del	DEL	A	A	-																															gttgcagcaggatcaaggtgAaaaggagaaccccatgcggg																										TCGA-EJ-A65B-01A-12D-A30E-08	TCGA-EJ-A65B-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf03c931-271d-477f-ba45-74d7d52ae213	8beb42cb-e084-42a5-89a2-8cf1f0810a67	g.chr1:24019112delA	ENST00000374550.3	+	2	65	c.20delA	c.(19-21)gaafs	p.E7fs	RPL11_ENST00000482370.1_3'UTR	NM_000975.3|NM_001199802.1	NP_000966.2|NP_001186731.1	P62913	RL11_HUMAN	ribosomal protein L11	7					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|protein localization to nucleus (GO:0034504)|protein targeting (GO:0006605)|ribosomal large subunit biogenesis (GO:0042273)|RNA metabolic process (GO:0016070)|rRNA processing (GO:0006364)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|rRNA binding (GO:0019843)|structural constituent of ribosome (GO:0003735)			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(2)	6		Colorectal(325;3.46e-05)|Lung NSC(340;0.000112)|all_lung(284;0.00016)|Renal(390;0.000219)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;2.13e-24)|Colorectal(126;5.06e-08)|COAD - Colon adenocarcinoma(152;2.92e-06)|GBM - Glioblastoma multiforme(114;4.4e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000954)|KIRC - Kidney renal clear cell carcinoma(1967;0.00322)|STAD - Stomach adenocarcinoma(196;0.0124)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0837)|LUSC - Lung squamous cell carcinoma(448;0.185)		GATCAAGGTGAAAAGGAGAAC	0.502																																						ENST00000374550.3																			0				central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(2)	6						c.(19-21)gafs		ribosomal protein L11							88	89	89					1																	24019112		2203	4300	6503	SO:0001589	frameshift_variant	6135				endocrine pancreas development|protein localization to nucleus|protein targeting|ribosomal large subunit biogenesis|rRNA processing|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|nucleolus	protein binding|rRNA binding|structural constituent of ribosome	g.chr1:24019112delA	L05092	CCDS238.1	1p36.1-p35	2011-04-06			ENSG00000142676	ENSG00000142676		"L ribosomal proteins"	10301	protein-coding gene	gene with protein product		604175				9582194, 10343117	Standard	NM_000975		Approved	L11	uc001bhk.3	P62913	OTTHUMG00000002926	ENST00000374550.3:c.20delA	1.37:g.24019112delA	ENSP00000363676:p.Glu7fs					RPL11_ENST00000482370.1_3'UTR	p.E7fs	NM_000975.3|NM_001199802.1	NP_000966.2|NP_001186731.1	P62913	RL11_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;2.13e-24)|Colorectal(126;5.06e-08)|COAD - Colon adenocarcinoma(152;2.92e-06)|GBM - Glioblastoma multiforme(114;4.4e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000954)|KIRC - Kidney renal clear cell carcinoma(1967;0.00322)|STAD - Stomach adenocarcinoma(196;0.0124)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0837)|LUSC - Lung squamous cell carcinoma(448;0.185)	2	65	+		Colorectal(325;3.46e-05)|Lung NSC(340;0.000112)|all_lung(284;0.00016)|Renal(390;0.000219)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)	7					P25121|P39026|Q8TDH2|Q9Y674	Frame_Shift_Del	DEL	ENST00000374550.3	37	c.20delA	CCDS238.1																																																																																				0.502	RPL11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008168.1	NM_000975		20	123						20	123	---	---	---	---	-	24019112	A	-	24019112	7	5	118	1	0	1	0	1	0	0	0	0	13557	246	9	0	26	0	RPL11	1	24019112	Frame_Shift_Del	DEL	A	TCGA-EJ-A65B-01A-12D-A30E-08		24019112	225231509	1	6203											
PKN2	5586	broad.mit.edu	37	chr1	89206770	89206770	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	agaaattggatgatatcaagGatcgaattaagagagaaata	20	9	10	2	1	1	4	1	1	0	3	2	8	1	6	0	2	0	0	0	2	7	4			TCGA-EJ-A65B-01A-12D-A30E-08	TCGA-EJ-A65B-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf03c931-271d-477f-ba45-74d7d52ae213	8beb42cb-e084-42a5-89a2-8cf1f0810a67	g.chr1:89206770G>A	ENST00000370521.3	+	2	507	c.148G>A	c.(148-150)Gat>Aat	p.D50N	PKN2_ENST00000370513.5_Missense_Mutation_p.D50N|PKN2_ENST00000316005.7_Missense_Mutation_p.D50N|PKN2_ENST00000370505.3_Intron	NM_006256.2	NP_006247.1	Q16513	PKN2_HUMAN	protein kinase N2	50					apical junction assembly (GO:0043297)|apoptotic process (GO:0006915)|cell adhesion (GO:0007155)|cell cycle (GO:0007049)|cell division (GO:0051301)|epithelial cell migration (GO:0010631)|positive regulation of cytokinesis (GO:0032467)|positive regulation of mitotic cell cycle (GO:0045931)|protein phosphorylation (GO:0006468)|regulation of cell motility (GO:2000145)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	apical junction complex (GO:0043296)|centrosome (GO:0005813)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium (GO:0030027)|membrane (GO:0016020)|midbody (GO:0030496)|nucleus (GO:0005634)	ATP binding (GO:0005524)|histone deacetylase binding (GO:0042826)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|endometrium(3)|kidney(3)|large_intestine(8)|lung(15)|prostate(1)|skin(1)	33		Lung NSC(277;0.123)		all cancers(265;0.0136)|Epithelial(280;0.0301)		TGATATCAAGGATCGAATTAA	0.368																																						ENST00000370521.3																			0				breast(2)|endometrium(3)|kidney(3)|large_intestine(8)|lung(15)|prostate(1)|skin(1)	33						c.(148-150)Gat>Aat		protein kinase N2							79	74	76					1																	89206770		1836	4081	5917	SO:0001583	missense	5586				signal transduction	cytoplasm	ATP binding|histone deacetylase binding|protein kinase C activity	g.chr1:89206770G>A	U33052	CCDS714.1	1p22	2014-04-23	2004-07-01	2004-07-01	ENSG00000065243	ENSG00000065243			9406	protein-coding gene	gene with protein product	"cardiolipin-activated protein kinase Pak2"	602549	"protein kinase C-like 2"	PRKCL2		7988719, 7851406	Standard	NM_006256		Approved	PRK2, Pak-2, STK7	uc001dmn.3	Q16513	OTTHUMG00000010074	ENST00000370521.3:c.148G>A	1.37:g.89206770G>A	ENSP00000359552:p.Asp50Asn					PKN2_ENST00000370513.5_Missense_Mutation_p.D50N|PKN2_ENST00000370505.3_Intron|PKN2_ENST00000316005.7_Missense_Mutation_p.D50N	p.D50N	NM_006256.2	NP_006247.1	Q16513	PKN2_HUMAN		all cancers(265;0.0136)|Epithelial(280;0.0301)	2	507	+		Lung NSC(277;0.123)	50					B4DQ21|B4DTP5|B4DVG1|D3DT24|Q08AF4|Q9H1W4	Missense_Mutation	SNP	ENST00000370521.3	37	c.148G>A	CCDS714.1	.	.	.	.	.	.	.	.	.	.	G	29.5	5.008197	0.93346	.	.	ENSG00000065243	ENST00000370521;ENST00000316005;ENST00000370513	T;T;T	0.17370	2.28;2.28;2.28	5.4	5.4	0.78164	.	0.000000	0.46145	U	0.000302	T	0.18841	0.0452	N	0.22421	0.69	0.80722	D	1	D;P;D;P	0.56746	0.96;0.917;0.977;0.939	P;P;P;P	0.59703	0.848;0.529;0.862;0.795	T	0.04090	-1.0978	10	0.87932	D	0	.	19.1711	0.93578	0.0:0.0:1.0:0.0	.	50;50;50;50	B4DTP5;E7ESL7;Q16513;B1AL79	.;.;PKN2_HUMAN;.	N	50	ENSP00000359552:D50N;ENSP00000317851:D50N;ENSP00000359544:D50N	ENSP00000317851:D50N	D	+	1	0	PKN2	88979358	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	9.476000	0.97823	2.518000	0.84900	0.462000	0.41574	GAT		0.368	PKN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027828.3	NM_006256		9	60	0	0	0	1	0	9	60					A	89206770	G	A	89206770	3	1	118	1	0	0	0	0	1	0	0	0	11980	1174	41	3	154	3	PKN2	1	89206770	Missense_Mutation	SNP	G	TCGA-EJ-A65B-01A-12D-A30E-08	65187658	89206770	160043851	2	6204											
IGSF3	3321	broad.mit.edu	37	chr1	117122291	117122291	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgtcgtcgtcgtcgtcgtcCtcctcctcctcctcctccct	0	14	6	21	6	0	0	0	0	0	0	13	0	7	0	7	0	0	0	7	0	0	0	rs569343519	byFrequency	TCGA-EJ-A65B-01A-12D-A30E-08	TCGA-EJ-A65B-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf03c931-271d-477f-ba45-74d7d52ae213	8beb42cb-e084-42a5-89a2-8cf1f0810a67	g.chr1:117122291C>G	ENST00000369486.3	-	10	3822	c.3057G>C	c.(3055-3057)gaG>gaC	p.E1019D	IGSF3_ENST00000318837.6_Missense_Mutation_p.E1039D|IGSF3_ENST00000369483.1_Missense_Mutation_p.E1039D	NM_001007237.1	NP_001007238.1	O75054	IGSF3_HUMAN	immunoglobulin superfamily, member 3	1019	Ig-like C2-type 8.				lacrimal gland development (GO:0032808)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	62	Lung SC(450;0.225)	all_cancers(81;1.24e-06)|all_epithelial(167;4.85e-07)|all_lung(203;1.66e-06)|Lung NSC(69;1.11e-05)		Lung(183;0.0142)|Colorectal(144;0.0929)|LUSC - Lung squamous cell carcinoma(189;0.108)|COAD - Colon adenocarcinoma(174;0.139)|all cancers(265;0.159)|Epithelial(280;0.166)		cgtcgtcgtcctcctcctcct	0.637													C|||	12	0.00239617	0.0023	0	5008	,	,		18566	0.003		0	False		,,,				2504	0.0061					ENST00000369486.3																			0				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	62						c.(3055-3057)gaG>gaC		immunoglobulin superfamily, member 3							28	29	29					1																	117122291		2203	4300	6503	SO:0001583	missense	3321					integral to membrane		g.chr1:117122291C>G	AF031174	CCDS30813.1, CCDS30814.1	1p13	2013-01-29			ENSG00000143061	ENSG00000143061		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5950	protein-coding gene	gene with protein product		603491				9790749	Standard	NM_001007237		Approved	V8, EWI-3, MGC117164	uc031pnr.1	O75054	OTTHUMG00000022751	ENST00000369486.3:c.3057G>C	1.37:g.117122291C>G	ENSP00000358498:p.Glu1019Asp					IGSF3_ENST00000318837.6_Missense_Mutation_p.E1039D|IGSF3_ENST00000369483.1_Missense_Mutation_p.E1039D	p.E1019D	NM_001007237.1	NP_001007238.1	O75054	IGSF3_HUMAN		Lung(183;0.0142)|Colorectal(144;0.0929)|LUSC - Lung squamous cell carcinoma(189;0.108)|COAD - Colon adenocarcinoma(174;0.139)|all cancers(265;0.159)|Epithelial(280;0.166)	10	3822	-	Lung SC(450;0.225)	all_cancers(81;1.24e-06)|all_epithelial(167;4.85e-07)|all_lung(203;1.66e-06)|Lung NSC(69;1.11e-05)	1019			Ig-like C2-type 8.		A6NJZ6|A6NMC7	Missense_Mutation	SNP	ENST00000369486.3	37	c.3057G>C	CCDS30813.1	.	.	.	.	.	.	.	.	.	.	C	0.860	-0.735766	0.03111	.	.	ENSG00000143061	ENST00000369486;ENST00000369483;ENST00000318837	T;T;T	0.02863	4.15;4.13;4.13	2.7	-5.4	0.02656	Immunoglobulin subtype (1);Immunoglobulin-like (1);	1.696000	0.03619	N	0.236120	T	0.00384	0.0012	N	0.08118	0	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.48768	-0.9006	10	0.15952	T	0.53	-1.3732	1.6073	0.02687	0.152:0.1895:0.1511:0.5074	.	1019;1039	O75054;A6NJZ6	IGSF3_HUMAN;.	D	1019;1039;1039	ENSP00000358498:E1019D;ENSP00000358495:E1039D;ENSP00000321184:E1039D	ENSP00000321184:E1039D	E	-	3	2	IGSF3	116923814	0.018000	0.18449	0.000000	0.03702	0.117000	0.20001	-1.573000	0.02134	-1.538000	0.01734	0.462000	0.41574	GAG		0.637	IGSF3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000059040.1	NM_001542		3	44	0	0	0	1	0	3	44					G	117122291	C	G	117122291	3	3	118	1	0	0	0	0	1	0	0	0	7601	680	24	5	535	5	IGSF3	1	117122291	Missense_Mutation	SNP	C	TCGA-EJ-A65B-01A-12D-A30E-08	27915521	117122291	132128330	3	6205											
FAM5B	57795	broad.mit.edu	37	chr1	177247905	177247905	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gccatcgccagcctcgcttcCgcctgcccaaggagaggtga	7	6	12	16	3	0	2	0	1	0	1	3	3	1	2	6	2	2	1	6	2	1	1	rs146557924		TCGA-EJ-A65B-01A-12D-A30E-08	TCGA-EJ-A65B-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf03c931-271d-477f-ba45-74d7d52ae213	8beb42cb-e084-42a5-89a2-8cf1f0810a67	g.chr1:177247905C>T	ENST00000361539.4	+	7	1531	c.1219C>T	c.(1219-1221)Cgc>Tgc	p.R407C	BRINP2_ENST00000478325.1_3'UTR	NM_021165.2	NP_066988.1	Q9C0B6	BRNP2_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 2	407					cell cycle arrest (GO:0007050)|cellular response to retinoic acid (GO:0071300)|negative regulation of mitotic cell cycle (GO:0045930)|positive regulation of neuron differentiation (GO:0045666)	extracellular region (GO:0005576)											GCCTCGCTTCCGCCTGCCCAA	0.612																																						ENST00000361539.4																			0				breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(21)|liver(1)|lung(41)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	94						c.(1219-1221)Cgc>Tgc				C	CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	44	45	45		1219	4.5	1	1	dbSNP_134	45	0,8600		0,0,4300	no	missense	FAM5B	NM_021165.2	180	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	407/784	177247905	1,13005	2203	4300	6503	SO:0001583	missense	0					extracellular region		g.chr1:177247905C>T		CCDS1320.1	1q24	2013-08-06	2013-08-06	2013-07-31	ENSG00000198797	ENSG00000198797			13746	protein-coding gene	gene with protein product			"family with sequence similarity 5, member B"	FAM5B		15193423	Standard	NM_021165		Approved	DBCCR1L2	uc001glf.3	Q9C0B6	OTTHUMG00000034953	ENST00000361539.4:c.1219C>T	1.37:g.177247905C>T	ENSP00000354481:p.Arg407Cys					FAM5B_ENST00000478325.1_3'UTR	p.R407C	NM_021165.2	NP_066988.1	Q9C0B6	FAM5B_HUMAN			7	1531	+			407					O95560|Q6ZWC1|Q7LCZ9|Q8N360	Missense_Mutation	SNP	ENST00000361539.4	37	c.1219C>T	CCDS1320.1	.	.	.	.	.	.	.	.	.	.	C	15.65	2.895732	0.52121	2.27E-4	0.0	ENSG00000198797	ENST00000536589;ENST00000361539	T	0.14893	2.47	5.39	4.46	0.54185	.	0.180201	0.48767	D	0.000162	T	0.20740	0.0499	L	0.36672	1.1	0.39227	D	0.963612	D;D;D	0.76494	0.997;0.999;0.978	P;P;B	0.53861	0.736;0.711;0.249	T	0.01027	-1.1476	10	0.66056	D	0.02	-20.5751	7.7831	0.29077	0.2552:0.6626:0.0:0.0822	.	157;302;407	F5H8E0;Q9C0B6-2;Q9C0B6	.;.;FAM5B_HUMAN	C	157;407	ENSP00000354481:R407C	ENSP00000354481:R407C	R	+	1	0	FAM5B	175514528	0.998000	0.40836	1.000000	0.80357	0.998000	0.95712	2.469000	0.45110	2.528000	0.85240	0.655000	0.94253	CGC		0.612	BRINP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084599.1	NM_021165		4	125	0	0	0	1	0	4	125					T	177247905	C	T	177247905	3	4	118	1	0	0	0	0	1	0	0	0	5593	652	23	2	1241	2	FAM5B	1	177247905	Missense_Mutation	SNP	C	TCGA-EJ-A65B-01A-12D-A30E-08	60125614	177247905	72002716	4	6206											
B3GALNT2	148789	broad.mit.edu	37	chr1	235647823	235647823	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	actgaacgcttcaatttcctGattcaaaactaagtaatgag	15	12	6	8	1	2	3	2	3	0	0	3	3	3	3	1	0	2	2	1	0	6	5			TCGA-EJ-A65B-01A-12D-A30E-08	TCGA-EJ-A65B-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf03c931-271d-477f-ba45-74d7d52ae213	8beb42cb-e084-42a5-89a2-8cf1f0810a67	g.chr1:235647823G>A	ENST00000366600.3	-	4	598	c.370C>T	c.(370-372)Cag>Tag	p.Q124*	B3GALNT2_ENST00000313984.3_Nonsense_Mutation_p.Q165*|B3GALNT2_ENST00000494378.1_5'UTR	NM_152490.2	NP_689703.1	Q8NCR0	B3GL2_HUMAN	beta-1,3-N-acetylgalactosaminyltransferase 2	124					protein glycosylation (GO:0006486)|protein O-linked glycosylation (GO:0006493)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	acetylgalactosaminyltransferase activity (GO:0008376)|acetylglucosaminyltransferase activity (GO:0008375)|galactosyltransferase activity (GO:0008378)			NS(1)|breast(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	18	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.0539)|Prostate(94;0.0353)	OV - Ovarian serous cystadenocarcinoma(106;0.000117)			TCAATTTCCTGATTCAAAACT	0.413																																						ENST00000366600.3																			0				NS(1)|breast(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	18						c.(370-372)Cag>Tag		beta-1,3-N-acetylgalactosaminyltransferase 2							108	110	109					1																	235647823		2203	4300	6503	SO:0001587	stop_gained	148789				protein glycosylation	Golgi membrane|integral to membrane	galactosyltransferase activity	g.chr1:235647823G>A	BC029564	CCDS1606.1, CCDS60453.1	1q42.3	2013-02-19	2006-06-14		ENSG00000162885	ENSG00000162885		"Beta 3-glycosyltransferases"	28596	protein-coding gene	gene with protein product		610194	"UDP-GalNAc:betaGlcNAc beta-1,3-galactosaminyltransferase, polypeptide 2"			14724282	Standard	NM_001277155		Approved	MGC39558	uc001hxc.3	Q8NCR0	OTTHUMG00000040468	ENST00000366600.3:c.370C>T	1.37:g.235647823G>A	ENSP00000355559:p.Gln124*					B3GALNT2_ENST00000313984.3_Nonsense_Mutation_p.Q165*|B3GALNT2_ENST00000478199.1_5'UTR	p.Q124*	NM_152490.2	NP_689703.1	Q8NCR0	B3GL2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.000117)		4	598	-	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.0539)|Prostate(94;0.0353)	124					Q59GR3|Q5TCI3|Q96AL7	Nonsense_Mutation	SNP	ENST00000366600.3	37	c.370C>T	CCDS1606.1	.	.	.	.	.	.	.	.	.	.	G	38	7.165534	0.98107	.	.	ENSG00000162885	ENST00000366599;ENST00000366600;ENST00000313984	.	.	.	4.84	4.84	0.62591	.	0.260195	0.39083	N	0.001467	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.21014	T	0.42	-20.1659	17.0145	0.86414	0.0:0.0:1.0:0.0	.	.	.	.	X	165;124;165	.	ENSP00000315678:Q165X	Q	-	1	0	B3GALNT2	233714446	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	6.940000	0.75917	2.629000	0.89072	0.655000	0.94253	CAG		0.413	B3GALNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097376.1	NM_152490		8	188	0	0	0	1	0	8	188					A	235647823	G	A	235647823	4	1	118	1	0	0	0	0	0	1	0	0	1246	1299	45	3	1168	3	B3GALNT2	1	235647823	Nonsense_Mutation	SNP	G	TCGA-EJ-A65B-01A-12D-A30E-08	58399918	235647823	13602798	5	6207											
ASPRV1	151516	broad.mit.edu	37	chr2	70187960	70187960	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcattgtggtcctggagcacAtcagtgccaatgatggcttc	8	11	12	10	0	1	1	1	1	0	0	3	2	2	2	2	3	2	3	2	3	1	2			TCGA-EJ-A65B-01A-12D-A30E-08	TCGA-EJ-A65B-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf03c931-271d-477f-ba45-74d7d52ae213	8beb42cb-e084-42a5-89a2-8cf1f0810a67	g.chr2:70187960A>T	ENST00000320256.4	-	1	1437	c.861T>A	c.(859-861)gaT>gaA	p.D287E	PCBP1-AS1_ENST00000419542.1_RNA|PCBP1-AS1_ENST00000596259.1_RNA|PCBP1-AS1_ENST00000418564.1_RNA|PCBP1-AS1_ENST00000413436.1_RNA|PCBP1-AS1_ENST00000435880.2_RNA|PCBP1-AS1_ENST00000457076.1_RNA	NM_152792.2	NP_690005.2			aspartic peptidase, retroviral-like 1											endometrium(3)|large_intestine(4)|lung(6)|ovary(1)	14						CCTGGAGCACATCAGTGCCAA	0.567																																						ENST00000320256.4																			0				endometrium(3)|large_intestine(4)|lung(6)|ovary(1)	14						c.(859-861)gaT>gaA		aspartic peptidase, retroviral-like 1							158	140	146					2																	70187960		2203	4300	6503	SO:0001583	missense	151516				protein maturation by peptide bond cleavage|skin development		aspartic-type endopeptidase activity	g.chr2:70187960A>T	AK055994	CCDS1897.1	2p13.3	2008-02-20			ENSG00000244617	ENSG00000244617			26321	protein-coding gene	gene with protein product	"Skin ASpartic Protease"	611765				16098038, 16565508	Standard	NM_152792		Approved	Taps, SASPase, FLJ25084	uc002sfz.4	Q53RT3	OTTHUMG00000129647	ENST00000320256.4:c.861T>A	2.37:g.70187960A>T	ENSP00000315383:p.Asp287Glu						p.D287E	NM_152792.2	NP_690005.2	Q53RT3	APRV1_HUMAN			1	1437	-			287			Peptidase A2.			Missense_Mutation	SNP	ENST00000320256.4	37	c.861T>A	CCDS1897.1	.	.	.	.	.	.	.	.	.	.	A	19.22	3.785622	0.70337	.	.	ENSG00000244617	ENST00000320256	T	0.68624	-0.34	5.09	-1.51	0.08664	Peptidase aspartic (1);Peptidase A2A, retrovirus, catalytic (1);Peptidase aspartic, eukaryotic predicted (1);	0.000000	0.48286	D	0.000194	T	0.64327	0.2588	N	0.19112	0.55	0.27642	N	0.947671	D	0.76494	0.999	D	0.85130	0.997	T	0.60939	-0.7163	10	0.87932	D	0	-25.4144	9.3018	0.37851	0.5964:0.0:0.4036:0.0	.	287	Q53RT3	APRV1_HUMAN	E	287	ENSP00000315383:D287E	ENSP00000315383:D287E	D	-	3	2	ASPRV1	70041464	0.689000	0.27690	0.958000	0.39756	0.933000	0.57130	-0.497000	0.06428	-0.229000	0.09854	-0.242000	0.12053	GAT		0.567	ASPRV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334161.1	NM_152792		27	147	0	0	0	1	0	27	147					T	70187960	A	T	70187960	3	4	118	1	0	0	0	0	1	0	0	0	1058	214	8	5	174	5	ASPRV1	2	70187960	Missense_Mutation	SNP	A	TCGA-EJ-A65B-01A-12D-A30E-08		70187960	173011413	6	6208											
AFF3	3899	broad.mit.edu	37	chr2	100209992	100209992	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	actgcccccgttggcagcggCctccttcagcctctgatcat	5	10	9	17	2	3	1	2	1	1	0	4	1	4	1	5	2	3	2	5	2	0	2			TCGA-EJ-A65B-01A-12D-A30E-08	TCGA-EJ-A65B-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf03c931-271d-477f-ba45-74d7d52ae213	8beb42cb-e084-42a5-89a2-8cf1f0810a67	g.chr2:100209992C>A	ENST00000409236.2	-	13	2243	c.2131G>T	c.(2131-2133)Gcc>Tcc	p.A711S	AFF3_ENST00000356421.2_Missense_Mutation_p.A736S|AFF3_ENST00000317233.4_Missense_Mutation_p.A711S|AFF3_ENST00000409579.1_Missense_Mutation_p.A736S			P51826	AFF3_HUMAN	AF4/FMR2 family, member 3	711					embryonic hindlimb morphogenesis (GO:0035116)|regulation of transcription, DNA-templated (GO:0006355)|response to tumor necrosis factor (GO:0034612)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)			NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						TTGGCAGCGGCCTCCTTCAGC	0.632																																						ENST00000317233.4																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						c.(2131-2133)Gcc>Tcc		AF4/FMR2 family, member 3							54	58	57					2																	100209992		2202	4300	6502	SO:0001583	missense	3899				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr2:100209992C>A	U34360	CCDS33258.1, CCDS42723.1	2q11.2-q12	2008-02-05	2005-06-27	2005-06-27	ENSG00000144218	ENSG00000144218			6473	protein-coding gene	gene with protein product		601464	"lymphoid nuclear protein related to AF4"	LAF4		8662235, 8555498	Standard	XM_005263945		Approved	MLLT2-like	uc002taf.3	P51826	OTTHUMG00000153011	ENST00000409236.2:c.2131G>T	2.37:g.100209992C>A	ENSP00000387207:p.Ala711Ser					AFF3_ENST00000409236.1_Missense_Mutation_p.A711S|AFF3_ENST00000356421.2_Missense_Mutation_p.A736S|AFF3_ENST00000409579.1_Missense_Mutation_p.A736S	p.A711S	NM_002285.2	NP_002276.2	P51826	AFF3_HUMAN			14	2366	-			711					B7ZM46|B9EGL9|D3DVI6|Q53RD6|Q53S47|Q53SI6|Q53TB9|Q59F27|Q8IWJ5	Missense_Mutation	SNP	ENST00000409236.2	37	c.2131G>T	CCDS42723.1	.	.	.	.	.	.	.	.	.	.	C	0.354	-0.943133	0.02322	.	.	ENSG00000144218	ENST00000317233;ENST00000356421;ENST00000409579;ENST00000409236;ENST00000433370;ENST00000444786;ENST00000432288	T;T;T;T	0.62498	0.02;0.02;0.02;0.02	5.17	3.36	0.38483	.	3.212870	0.00610	N	0.000404	T	0.45013	0.1321	N	0.16166	0.38	0.09310	N	1	B;B;B	0.19445	0.036;0.021;0.017	B;B;B	0.21917	0.037;0.015;0.009	T	0.37957	-0.9683	10	0.09084	T	0.74	.	6.2104	0.20626	0.2664:0.5802:0.0:0.1534	.	864;711;736	B7Z4I6;P51826;P51826-2	.;AFF3_HUMAN;.	S	711;736;736;711;711;864;736	ENSP00000317421:A711S;ENSP00000348793:A736S;ENSP00000386834:A736S;ENSP00000387207:A711S	ENSP00000317421:A711S	A	-	1	0	AFF3	99576424	0.988000	0.35896	0.938000	0.37757	0.570000	0.35934	-0.229000	0.09098	0.577000	0.29470	0.561000	0.74099	GCC		0.632	AFF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328982.3	NM_002285		14	142	1	0	4.14922e-12	1	4.70777e-12	14	142					A	100209992	C	A	100209992	3	1	118	1	0	0	0	0	1	0	0	0	358	739	26	5	1593	5	AFF3	2	100209992	Missense_Mutation	SNP	C	TCGA-EJ-A65B-01A-12D-A30E-08	30022032	100209992	142989381	7	6209											
TTN	7273	broad.mit.edu	37	chr2	179428058	179428058	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tacaacatagcctttaacagGtgcgccaccatcataaattg	14	10	6	11	1	1	0	1	0	0	0	1	0	1	0	3	1	5	0	3	1	6	6			TCGA-EJ-A65B-01A-12D-A30E-08	TCGA-EJ-A65B-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf03c931-271d-477f-ba45-74d7d52ae213	8beb42cb-e084-42a5-89a2-8cf1f0810a67	g.chr2:179428058G>T	ENST00000591111.1	-	276	78102	c.77878C>A	c.(77878-77880)Cct>Act	p.P25960T	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.P18728T|TTN_ENST00000342992.6_Missense_Mutation_p.P25033T|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.P18661T|TTN_ENST00000460472.2_Missense_Mutation_p.P18536T|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.P27601T			Q8WZ42	TITIN_HUMAN	titin	25960	Fibronectin type-III 89. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CCTTTAACAGGTGCGCCACCA	0.493																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(82801-82803)Cct>Act		titin							73	73	73					2																	179428058		2044	4207	6251	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179428058G>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.77878C>A	2.37:g.179428058G>T	ENSP00000465570:p.Pro25960Thr					TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.P25960T|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.P18661T|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.P25033T|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.P18536T|TTN_ENST00000342175.6_Missense_Mutation_p.P18728T|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000419746.1_RNA	p.P27601T	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		326	83025	-			25960			Fibronectin type-III 101.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.82801C>A		.	.	.	.	.	.	.	.	.	.	G	14.37	2.516342	0.44763	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.59224	0.28;0.28;0.28;0.28	5.74	5.74	0.90152	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.61763	0.2373	M	0.72624	2.21	0.29193	N	0.875735	P;P;P;P	0.43231	0.669;0.669;0.669;0.801	B;B;B;B	0.38106	0.265;0.265;0.265;0.265	T	0.66035	-0.6023	9	0.87932	D	0	.	19.9187	0.97077	0.0:0.0:1.0:0.0	.	18536;18661;18728;25960	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	T	25033;18536;18728;18661;18534	ENSP00000343764:P25033T;ENSP00000434586:P18536T;ENSP00000340554:P18728T;ENSP00000352154:P18661T	ENSP00000340554:P18728T	P	-	1	0	TTN	179136304	1.000000	0.71417	0.629000	0.29254	0.994000	0.84299	3.353000	0.52247	2.710000	0.92621	0.563000	0.77884	CCT		0.493	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		9	70	1	0	1.12685e-05	1	1.25442e-05	9	70					T	179428058	G	T	179428058	3	4	118	1	0	0	0	0	1	0	0	0	16732	1261	44	5	25326	5	TTN	2	179428058	Missense_Mutation	SNP	G	TCGA-EJ-A65B-01A-12D-A30E-08	79218066	179428058	63771315	8	6210											
RAD18	56852	broad.mit.edu	37	chr3	8944154	8944154	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tccagcaattttcttgtatcCttttctagcctgatccacca	8	16	4	13	0	2	1	0	1	2	0	5	1	5	1	5	0	2	2	5	0	3	7			TCGA-EJ-A65B-01A-12D-A30E-08	TCGA-EJ-A65B-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf03c931-271d-477f-ba45-74d7d52ae213	8beb42cb-e084-42a5-89a2-8cf1f0810a67	g.chr3:8944154C>T	ENST00000264926.2	-	10	1194	c.1078G>A	c.(1078-1080)Gga>Aga	p.G360R		NM_020165.3	NP_064550.3	Q9NS91	RAD18_HUMAN	RAD18 E3 ubiquitin protein ligase	360					DNA repair (GO:0006281)|negative regulation of DNA recombination (GO:0045910)|protein ubiquitination (GO:0016567)|response to UV (GO:0009411)|spermatogenesis (GO:0007283)	chromatin (GO:0000785)|nucleus (GO:0005634)|replication fork (GO:0005657)|XY body (GO:0001741)	damaged DNA binding (GO:0003684)|ligase activity (GO:0016874)|polyubiquitin binding (GO:0031593)|ubiquitin protein ligase binding (GO:0031625)|Y-form DNA binding (GO:0000403)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|prostate(1)|skin(3)	15				OV - Ovarian serous cystadenocarcinoma(96;0.0552)		TTCTTGTATCCTTTTCTAGCC	0.343								Rad6 pathway																														ENST00000264926.2																			0				breast(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|prostate(1)|skin(3)	15						c.(1078-1080)Gga>Aga	Rad6 pathway	RAD18 homolog (S. cerevisiae)							156	146	150					3																	8944154		2203	4300	6503	SO:0001583	missense	56852				DNA repair	nucleus|replication fork	damaged DNA binding|ligase activity|ubiquitin protein ligase binding|Y-form DNA binding|zinc ion binding	g.chr3:8944154C>T		CCDS2571.1	3p25-p24	2014-08-04	2014-08-04		ENSG00000070950	ENSG00000070950		"RING-type (C3HC4) zinc fingers"	18278	protein-coding gene	gene with protein product		605256	"RAD18 homolog (S. cerevisiae)"			10884424, 10908344	Standard	NM_020165		Approved	RNF73	uc003brd.3	Q9NS91	OTTHUMG00000090545	ENST00000264926.2:c.1078G>A	3.37:g.8944154C>T	ENSP00000264926:p.Gly360Arg						p.G360R	NM_020165.3	NP_064550.3	Q9NS91	RAD18_HUMAN		OV - Ovarian serous cystadenocarcinoma(96;0.0552)	10	1194	-			360					Q58F55|Q9NRT6	Missense_Mutation	SNP	ENST00000264926.2	37	c.1078G>A	CCDS2571.1	.	.	.	.	.	.	.	.	.	.	C	0.103	-1.149657	0.01714	.	.	ENSG00000070950	ENST00000264926	T	0.20332	2.08	4.78	2.85	0.33270	.	0.069223	0.64402	D	0.000015	T	0.13798	0.0334	L	0.36672	1.1	0.28814	N	0.898063	B	0.02656	0.0	B	0.01281	0.0	T	0.12993	-1.0526	9	.	.	.	2.3715	6.9182	0.24371	0.1893:0.6001:0.2105:0.0	.	360	Q9NS91	RAD18_HUMAN	R	360	ENSP00000264926:G360R	.	G	-	1	0	RAD18	8919154	1.000000	0.71417	1.000000	0.80357	0.448000	0.32197	1.568000	0.36418	1.192000	0.43071	0.563000	0.77884	GGA		0.343	RAD18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207071.2	NM_020165		5	55	0	0	0	1	0	5	55					T	8944154	C	T	8944154	3	4	118	1	0	0	0	0	1	0	0	0	12980	690	24	3	425	3	RAD18	3	8944154	Missense_Mutation	SNP	C	TCGA-EJ-A65B-01A-12D-A30E-08		8944154	189078276	9	6211											
MLH1	4292	broad.mit.edu	37	chr3	37035090	37035090	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tggacgagacagtggtgaacCgcatcgcggcgggggaagtt	9	6	18	8	5	0	2	0	1	0	1	1	5	0	4	1	5	1	2	1	5	2	1	rs367654552		TCGA-EJ-A65B-01A-12D-A30E-08	TCGA-EJ-A65B-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf03c931-271d-477f-ba45-74d7d52ae213	8beb42cb-e084-42a5-89a2-8cf1f0810a67	g.chr3:37035090C>T	ENST00000231790.2	+	1	268	c.52C>T	c.(52-54)Cgc>Tgc	p.R18C	MLH1_ENST00000539477.1_5'Flank|MLH1_ENST00000455445.2_5'Flank|MLH1_ENST00000435176.1_5'Flank|MLH1_ENST00000458205.2_5'Flank|EPM2AIP1_ENST00000322716.5_5'Flank|MLH1_ENST00000536378.1_5'Flank	NM_000249.3|NM_001258273.1	NP_000240.1|NP_001245202.1	P40692	MLH1_HUMAN	mutL homolog 1	18			R -> C (in HNPCC2). {ECO:0000269|PubMed:14635101}.		ATP catabolic process (GO:0006200)|double-strand break repair via nonhomologous end joining (GO:0006303)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|isotype switching (GO:0045190)|male meiosis chromosome segregation (GO:0007060)|meiotic metaphase I plate congression (GO:0043060)|mismatch repair (GO:0006298)|negative regulation of mitotic recombination (GO:0045950)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|oogenesis (GO:0048477)|resolution of meiotic recombination intermediates (GO:0000712)|somatic hypermutation of immunoglobulin genes (GO:0016446)|spermatogenesis (GO:0007283)|spindle midzone assembly involved in meiosis (GO:0051257)|synapsis (GO:0007129)	chiasma (GO:0005712)|male germ cell nucleus (GO:0001673)|membrane (GO:0016020)|MutLalpha complex (GO:0032389)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|guanine/thymine mispair binding (GO:0032137)			NS(1)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(54)|lung(13)|oesophagus(7)|ovary(6)|pancreas(5)|prostate(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	127						AGTGGTGAACCGCATCGCGGC	0.567		1	"D, Mis, N, F, S"		"colorectal, endometrial, ovarian, CNS"	"colorectal, endometrial, ovarian, CNS"		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome																													ENST00000231790.2		1	yes	Rec	yes	"Hereditary non-polyposis colorectal cancer, Turcot syndrome"	3	3p21.3	4292	"D, Mis, N, F, S"	E.coli MutL homolog gene			"E, O"		"colorectal, endometrial, ovarian, CNS"	"colorectal, endometrial, ovarian, CNS"		0				NS(1)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(54)|lung(13)|oesophagus(7)|ovary(6)|pancreas(5)|prostate(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	127	GRCh37	CD015054|CM033399	MLH1	D|M	rs63749804	c.(52-54)Cgc>Tgc	Mismatch excision repair (MMR)	mutL homolog 1		C	CYS/ARG	0,4406		0,0,2203	97	90	92		52	6	1	3		92	1,8599	1.2+/-3.3	0,1,4299	no	missense	MLH1	NM_000249.3	180	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	18/757	37035090	1,13005	2203	4300	6503	SO:0001583	missense	4292	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome; ;Hereditary Non-Polyposis Colorectal Cancer, HNPCC, Lynch syndromes 1 and 2 (= Cancer Family Syndrome), Hereditary Mismatch Repair Deficiency syndrome, HMRDS;Mismatch Repair Cancer syndrome, MMRCS, Childhood Cancer Syndrome, CCS, Biallelic Mismatch Repair Gene Mutations Associated Early Onset Cancer, Lynch syndrome type III	mismatch repair|somatic hypermutation of immunoglobulin genes	chiasma|MutLalpha complex|MutLbeta complex|synaptonemal complex	ATP binding|ATPase activity|protein binding	g.chr3:37035090C>T	U07418	CCDS2663.1, CCDS54562.1, CCDS54563.1	3p22.3	2014-09-17	2013-09-12		ENSG00000076242	ENSG00000076242			7127	protein-coding gene	gene with protein product		120436	"mutL (E. coli) homolog 1 (colon cancer, nonpolyposis type 2)", "mutL homolog 1, colon cancer, nonpolyposis type 2 (E. coli)"	COCA2		7903889	Standard	NM_000249		Approved	HNPCC, FCC2, HNPCC2	uc003cgl.3	P40692	OTTHUMG00000130797	ENST00000231790.2:c.52C>T	3.37:g.37035090C>T	ENSP00000231790:p.Arg18Cys						p.R18C	NM_000249.3|NM_001258273.1	NP_000240.1|NP_001245202.1	P40692	MLH1_HUMAN			1	268	+			18		R -> C (in HNPCC2).			B4DI13|B4DQ11|E9PCU2	Missense_Mutation	SNP	ENST00000231790.2	37	c.52C>T	CCDS2663.1	.	.	.	.	.	.	.	.	.	.	C	36	5.763710	0.96906	0.0	1.16E-4	ENSG00000076242	ENST00000231790	D	0.90788	-2.73	5.98	5.98	0.97165	DNA mismatch repair protein, N-terminal (1);ATPase-like, ATP-binding domain (2);	0.054326	0.64402	D	0.000001	D	0.95859	0.8652	M	0.84326	2.69	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	D	0.95755	0.8795	10	0.87932	D	0	-13.7676	19.2211	0.93797	0.0:1.0:0.0:0.0	.	18;18	Q53GX1;P40692	.;MLH1_HUMAN	C	18	ENSP00000231790:R18C	ENSP00000231790:R18C	R	+	1	0	MLH1	37010094	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	5.225000	0.65294	2.838000	0.97847	0.563000	0.77884	CGC		0.567	MLH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253337.2	NM_000249		17	120	0	0	0	1	0	17	120					T	37035090	C	T	37035090	3	4	118	1	0	0	0	0	1	0	0	0	9617	652	23	2	54	2	MLH1	3	37035090	Missense_Mutation	SNP	C	TCGA-EJ-A65B-01A-12D-A30E-08	28090936	37035090	160987340	10	6212											
GOLGA4	2803	broad.mit.edu	37	chr3	37369279	37369281	+	In_Frame_Del	DEL	AAG	AAG	-																															agcaagaattggaaatactaAagaaagaatatgatcaagaa																										TCGA-EJ-A65B-01A-12D-A30E-08	TCGA-EJ-A65B-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf03c931-271d-477f-ba45-74d7d52ae213	8beb42cb-e084-42a5-89a2-8cf1f0810a67	g.chr3:37369279_37369281delAAG	ENST00000361924.2	+	14	6276_6278	c.5902_5904delAAG	c.(5902-5904)aagdel	p.K1969del	GOLGA4_ENST00000444882.1_Intron|GOLGA4_ENST00000356847.4_In_Frame_Del_p.K1991del	NM_002078.4	NP_002069.2	Q13439	GOGA4_HUMAN	golgin A4	1969	Glu-rich.				Golgi to plasma membrane protein transport (GO:0043001)|protein targeting to Golgi (GO:0000042)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	GTPase binding (GO:0051020)			NS(2)|breast(3)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(17)|liver(2)|lung(16)|ovary(4)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						GGAAATACTAAAGAAAGAATATG	0.355																																						ENST00000361924.2																			0				NS(2)|breast(3)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(17)|liver(2)|lung(16)|ovary(4)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						c.(5902-5904)del		golgin A4																																				SO:0001651	inframe_deletion	2803				Golgi to plasma membrane protein transport	Golgi membrane|trans-Golgi network	protein binding	g.chr3:37369279_37369281delAAG	U31906	CCDS2666.1, CCDS54564.1	3p22-p21.3	2010-02-12	2010-02-12		ENSG00000144674	ENSG00000144674			4427	protein-coding gene	gene with protein product	"golgin 245"	602509	"golgi autoantigen, golgin subfamily a, 4"			8626529	Standard	NM_002078		Approved	GOLG, GCP2, p230, golgin-240	uc003cgw.3	Q13439	OTTHUMG00000130799	ENST00000361924.2:c.5902_5904delAAG	3.37:g.37369279_37369281delAAG	ENSP00000354486:p.Lys1969del					GOLGA4_ENST00000356847.4_In_Frame_Del_p.K1991del|GOLGA4_ENST00000444882.1_Intron	p.K1969del	NM_002078.4	NP_002069.2	Q13439	GOGA4_HUMAN			14	6276_6278	+			1969			Glu-rich.		F8W8Q7|Q13270|Q13654|Q14436|Q59EW8	In_Frame_Del	DEL	ENST00000361924.2	37	c.5902_5904delAAG	CCDS2666.1																																																																																				0.355	GOLGA4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253339.2	NM_002078		9	103						9	103	---	---	---	---	-	37369281	AAG	-	37369279	7	5	118	1	0	1	0	1	0	0	0	0	6555	15	1	0	6026	0	GOLGA4	3	37369279	In_Frame_Del	DEL	AAG	TCGA-EJ-A65B-01A-12D-A30E-08	334189	37369279	160653151	11	6213											
LARS2	23395	broad.mit.edu	37	chr3	45527196	45527196	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	attttcagattgcctcacgcCtgtaatggctgtgaacatgc	9	13	9	10	1	2	2	2	1	0	1	2	2	2	2	2	1	3	2	2	1	2	4			TCGA-EJ-A65B-01A-12D-A30E-08	TCGA-EJ-A65B-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf03c931-271d-477f-ba45-74d7d52ae213	8beb42cb-e084-42a5-89a2-8cf1f0810a67	g.chr3:45527196C>T	ENST00000415258.1	+	10	1172	c.1031C>T	c.(1030-1032)cCt>cTt	p.P344L	LARS2-AS1_ENST00000442534.2_RNA|LARS2_ENST00000265537.3_Missense_Mutation_p.P344L|LARS2_ENST00000414984.1_Missense_Mutation_p.P301L			Q15031	SYLM_HUMAN	leucyl-tRNA synthetase 2, mitochondrial	344					gene expression (GO:0010467)|leucyl-tRNA aminoacylation (GO:0006429)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrial matrix (GO:0005759)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|leucine-tRNA ligase activity (GO:0004823)			endometrium(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	18				BRCA - Breast invasive adenocarcinoma(193;0.0122)|KIRC - Kidney renal clear cell carcinoma(197;0.0313)|Kidney(197;0.0372)	L-Leucine(DB00149)	TGCCTCACGCCTGTAATGGCT	0.453																																						ENST00000415258.1																			0				endometrium(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	18						c.(1030-1032)cCt>cTt		leucyl-tRNA synthetase 2, mitochondrial	L-Leucine(DB00149)						171	165	167					3																	45527196		2203	4300	6503	SO:0001583	missense	23395				leucyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|leucine-tRNA ligase activity	g.chr3:45527196C>T	AJ312685	CCDS2728.1	3p21.3	2012-10-26			ENSG00000011376	ENSG00000011376	6.1.1.4	"Aminoacyl tRNA synthetases / Class I"	17095	protein-coding gene	gene with protein product	"leucine tRNA ligase 2, mitochondrial"	604544				20194621, 15123417	Standard	NM_015340		Approved	KIAA0028, LEURS, MGC26121	uc003cop.1	Q15031	OTTHUMG00000133177	ENST00000415258.1:c.1031C>T	3.37:g.45527196C>T	ENSP00000408576:p.Pro344Leu					LARS2-AS1_ENST00000442534.2_RNA|LARS2_ENST00000265537.3_Missense_Mutation_p.P344L|LARS2_ENST00000414984.1_Missense_Mutation_p.P301L	p.P344L			Q15031	SYLM_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.0122)|KIRC - Kidney renal clear cell carcinoma(197;0.0313)|Kidney(197;0.0372)	10	1172	+			344						Missense_Mutation	SNP	ENST00000415258.1	37	c.1031C>T	CCDS2728.1	.	.	.	.	.	.	.	.	.	.	C	9.203	1.029000	0.19512	.	.	ENSG00000011376	ENST00000265537;ENST00000415258;ENST00000414984	T;T;T	0.21932	1.98;1.98;1.98	5.22	4.35	0.52113	Valyl/Leucyl/Isoleucyl-tRNA synthetase, class Ia, editing domain (2);	0.294232	0.34777	N	0.003691	T	0.19046	0.0457	L	0.41710	1.295	0.20074	N	0.999932	P;P	0.39920	0.695;0.695	B;B	0.40134	0.32;0.32	T	0.10917	-1.0609	10	0.87932	D	0	-12.3461	9.5131	0.39089	0.0:0.7822:0.1423:0.0755	.	301;344	E9PHM2;Q15031	.;SYLM_HUMAN	L	344;344;301	ENSP00000265537:P344L;ENSP00000408576:P344L;ENSP00000412893:P301L	ENSP00000265537:P344L	P	+	2	0	LARS2	45502200	0.436000	0.25586	0.033000	0.17914	0.190000	0.23558	3.037000	0.49775	1.182000	0.42928	0.655000	0.94253	CCT		0.453	LARS2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345001.1	NM_015340		12	198	0	0	0	1	0	12	198					T	45527196	C	T	45527196	3	4	118	1	0	0	0	0	1	0	0	0	8635	681	24	3	1065	3	LARS2	3	45527196	Missense_Mutation	SNP	C	TCGA-EJ-A65B-01A-12D-A30E-08	8157917	45527196	152495234	12	6214											
EVC2	132884	broad.mit.edu	37	chr4	5576482	5576482	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttctagcacgacactgttcTgttgttcctctctcaaactg	7	15	6	13	1	4	0	1	0	3	0	6	1	5	0	1	0	2	4	1	0	2	5			TCGA-EJ-A65B-01A-12D-A30E-08	TCGA-EJ-A65B-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf03c931-271d-477f-ba45-74d7d52ae213	8beb42cb-e084-42a5-89a2-8cf1f0810a67	g.chr4:5576482T>C	ENST00000344408.5	-	19	3343	c.3290A>G	c.(3289-3291)cAg>cGg	p.Q1097R	EVC2_ENST00000310917.2_Missense_Mutation_p.Q1017R|EVC2_ENST00000344938.1_Missense_Mutation_p.Q1097R	NM_147127.4	NP_667338.3	Q86UK5	LBN_HUMAN	Ellis van Creveld syndrome 2	1097					smoothened signaling pathway (GO:0007224)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(2)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(32)|lung(28)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	81						GACACTGTTCTGTTGTTCCTC	0.408																																						ENST00000310917.2																			0				NS(2)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(32)|lung(28)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	81						c.(3049-3051)cAg>cGg		Ellis van Creveld syndrome 2							179	159	166					4																	5576482		2203	4300	6503	SO:0001583	missense	132884					integral to membrane		g.chr4:5576482T>C	AB083067	CCDS3382.2, CCDS54718.1	4p16.2-p16.1	2008-08-01	2008-08-01		ENSG00000173040	ENSG00000173040			19747	protein-coding gene	gene with protein product		607261				12136126, 12571802	Standard	NM_147127		Approved	LBN	uc003gij.3	Q86UK5	OTTHUMG00000125493	ENST00000344408.5:c.3290A>G	4.37:g.5576482T>C	ENSP00000342144:p.Gln1097Arg					EVC2_ENST00000344938.1_Missense_Mutation_p.Q1097R|EVC2_ENST00000344408.5_Missense_Mutation_p.Q1097R	p.Q1017R	NM_001166136.1	NP_001159608.1	Q86UK5	LBN_HUMAN			19	3781	-			1097					Q86YT3|Q86YT4|Q8NG49	Missense_Mutation	SNP	ENST00000344408.5	37	c.3050A>G	CCDS3382.2	.	.	.	.	.	.	.	.	.	.	T	7.976	0.750231	0.15778	.	.	ENSG00000173040	ENST00000344938;ENST00000310917;ENST00000344408	T;T;T	0.74842	-0.88;-0.88;-0.88	4.74	2.3	0.28687	.	1.092240	0.06824	N	0.792776	T	0.57562	0.2062	N	0.24115	0.695	0.09310	N	1	P	0.34462	0.454	B	0.32805	0.153	T	0.42464	-0.9450	10	0.18276	T	0.48	-12.788	6.0941	0.20010	0.0:0.2046:0.0:0.7954	.	1097	Q86UK5	LBN_HUMAN	R	1097;1017;1097	ENSP00000339954:Q1097R;ENSP00000311683:Q1017R;ENSP00000342144:Q1097R	ENSP00000311683:Q1017R	Q	-	2	0	EVC2	5627383	0.933000	0.31639	0.002000	0.10522	0.002000	0.02628	0.907000	0.28531	0.332000	0.23536	-0.250000	0.11733	CAG		0.408	EVC2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000289822.2	NM_147127		16	76	0	0	0	1	0	16	76					C	5576482	T	C	5576482	3	2	118	1	0	0	0	0	1	0	0	0	5286	1580	55	4	652	4	EVC2	4	5576482	Missense_Mutation	SNP	T	TCGA-EJ-A65B-01A-12D-A30E-08		5576482	185577794	13	6215											
ANKRD55	79722	broad.mit.edu	37	chr5	55472007	55472007	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tggccaggcataaacttgtgCggccataagcatcctgcatg	10	9	11	11	1	0	0	0	0	0	0	1	0	1	0	3	3	4	3	3	3	3	3	rs201977310		TCGA-EJ-A65B-01A-12D-A30E-08	TCGA-EJ-A65B-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf03c931-271d-477f-ba45-74d7d52ae213	8beb42cb-e084-42a5-89a2-8cf1f0810a67	g.chr5:55472007C>T	ENST00000341048.4	-	4	435	c.284G>A	c.(283-285)cGc>cAc	p.R95H	ANKRD55_ENST00000504958.2_Missense_Mutation_p.R95H|ANKRD55_ENST00000513241.2_Missense_Mutation_p.R66H	NM_024669.2	NP_078945.2	Q3KP44	ANR55_HUMAN	ankyrin repeat domain 55	95										breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(1)	34		Lung NSC(810;8.69e-05)|Prostate(74;0.00634)|Breast(144;0.0334)|Ovarian(174;0.223)				TAAACTTGTGCGGCCATAAGC	0.542																																						ENST00000341048.4																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(1)	34						c.(283-285)cGc>cAc		ankyrin repeat domain 55							161	136	144					5																	55472007		2203	4300	6503	SO:0001583	missense	79722							g.chr5:55472007C>T	AK021857	CCDS34161.1	5q11.2	2013-01-10			ENSG00000164512	ENSG00000164512		"Ankyrin repeat domain containing"	25681	protein-coding gene	gene with protein product		615189					Standard	XM_005248599		Approved	FLJ11795	uc003jqu.3	Q3KP44	OTTHUMG00000162305	ENST00000341048.4:c.284G>A	5.37:g.55472007C>T	ENSP00000342295:p.Arg95His					ANKRD55_ENST00000504958.2_Missense_Mutation_p.R95H|ANKRD55_ENST00000513241.2_Missense_Mutation_p.R66H	p.R95H	NM_024669.2	NP_078945.2	Q3KP44	ANR55_HUMAN			4	435	-		Lung NSC(810;8.69e-05)|Prostate(74;0.00634)|Breast(144;0.0334)|Ovarian(174;0.223)	94					B3KVT8|Q3KP45|Q9HAD3	Missense_Mutation	SNP	ENST00000341048.4	37	c.284G>A	CCDS34161.1	.	.	.	.	.	.	.	.	.	.	C	35	5.426908	0.96131	.	.	ENSG00000164512	ENST00000507283;ENST00000341048;ENST00000504958;ENST00000513241;ENST00000519586	T;T;T	0.66460	-0.21;-0.21;-0.21	5.31	5.31	0.75309	.	0.000000	0.85682	D	0.000000	T	0.77837	0.4190	L	0.47190	1.495	0.54753	D	0.999988	D	0.89917	1.0	D	0.91635	0.999	T	0.76607	-0.2897	10	0.41790	T	0.15	.	18.5715	0.91137	0.0:1.0:0.0:0.0	.	95	B3KVT8	.	H	95;95;95;66;95	ENSP00000342295:R95H;ENSP00000424230:R95H;ENSP00000423507:R66H	ENSP00000342295:R95H	R	-	2	0	ANKRD55	55507764	1.000000	0.71417	0.999000	0.59377	0.979000	0.70002	6.485000	0.73625	2.462000	0.83206	0.563000	0.77884	CGC		0.542	ANKRD55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368510.4	NM_024669		5	184	0	0	0	1	0	5	184					T	55472007	C	T	55472007	3	4	118	1	0	0	0	0	1	0	0	0	681	768	27	1	1596	1	ANKRD55	5	55472007	Missense_Mutation	SNP	C	TCGA-EJ-A65B-01A-12D-A30E-08		55472007	125443253	14	6216											
RAD17	5884	broad.mit.edu	37	chr5	68689274	68689274	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcatggaaattgatgatattGtgagagccagtgaatttctg	12	14	11	4	0	2	4	1	4	1	1	2	6	2	5	1	1	1	0	1	1	3	4			TCGA-EJ-A65B-01A-12D-A30E-08	TCGA-EJ-A65B-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf03c931-271d-477f-ba45-74d7d52ae213	8beb42cb-e084-42a5-89a2-8cf1f0810a67	g.chr5:68689274G>T	ENST00000509734.1	+	14	2080	c.1402G>T	c.(1402-1404)Gtg>Ttg	p.V468L	RAD17_ENST00000380774.3_Missense_Mutation_p.V468L|RAD17_ENST00000305138.4_Missense_Mutation_p.V457L|RAD17_ENST00000504177.1_Intron|RAD17_ENST00000354868.5_Missense_Mutation_p.V457L|RAD17_ENST00000345306.6_Missense_Mutation_p.V457L|RAD17_ENST00000521422.1_Missense_Mutation_p.V292L|RAD17_ENST00000358030.2_Missense_Mutation_p.V292L|RAD17_ENST00000361732.2_Missense_Mutation_p.V457L|RAD17_ENST00000282891.6_Missense_Mutation_p.V371L|RAD17_ENST00000354312.3_Missense_Mutation_p.V457L			O75943	RAD17_HUMAN	RAD17 homolog (S. pombe)	468	Interaction with MCM7.				cellular response to DNA damage stimulus (GO:0006974)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication checkpoint (GO:0000076)|mitotic cell cycle checkpoint (GO:0007093)|negative regulation of DNA replication (GO:0008156)|regulation of phosphorylation (GO:0042325)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)						Lung NSC(167;5.19e-05)|Prostate(74;0.0143)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;9.36e-57)|Epithelial(20;1.21e-52)|all cancers(19;3.34e-48)|Lung(70;0.0183)		TGATGATATTGTGAGAGCCAG	0.328								Other conserved DNA damage response genes																														ENST00000509734.1																			0											c.(1402-1404)Gtg>Ttg	Other conserved DNA damage response genes	RAD17 homolog (S. pombe)							84	85	85					5																	68689274		2203	4296	6499	SO:0001583	missense	5884				cell cycle|DNA damage checkpoint|DNA repair|DNA replication|DNA replication checkpoint|mitotic cell cycle checkpoint|negative regulation of DNA replication|regulation of phosphorylation	nucleoplasm	ATP binding|nucleoside-triphosphatase activity|protein binding	g.chr5:68689274G>T	AF085736	CCDS4003.1, CCDS4004.1, CCDS4005.1, CCDS47226.1	5q13	2010-09-24	2001-11-28		ENSG00000152942	ENSG00000152942			9807	protein-coding gene	gene with protein product		603139	"RAD1 (S. pombe) homolog"			9869296, 9660800	Standard	NM_133343		Approved	Rad24, RAD17Sp, CCYC	uc003jwo.3	O75943	OTTHUMG00000099357	ENST00000509734.1:c.1402G>T	5.37:g.68689274G>T	ENSP00000426191:p.Val468Leu					RAD17_ENST00000305138.4_Missense_Mutation_p.V457L|RAD17_ENST00000282891.6_Missense_Mutation_p.V371L|RAD17_ENST00000358030.2_Missense_Mutation_p.V292L|RAD17_ENST00000345306.6_Missense_Mutation_p.V457L|RAD17_ENST00000380774.3_Missense_Mutation_p.V468L|RAD17_ENST00000354312.3_Missense_Mutation_p.V457L|RAD17_ENST00000521422.1_Missense_Mutation_p.V292L|RAD17_ENST00000361732.2_Missense_Mutation_p.V457L|RAD17_ENST00000504177.1_Intron|RAD17_ENST00000354868.5_Missense_Mutation_p.V457L	p.V468L			O75943	RAD17_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;9.36e-57)|Epithelial(20;1.21e-52)|all cancers(19;3.34e-48)|Lung(70;0.0183)	14	2080	+		Lung NSC(167;5.19e-05)|Prostate(74;0.0143)|Ovarian(174;0.0448)|Breast(144;0.198)	468			Interaction with MCM7.		A8K8X2|D3DWA5|O75714|Q7Z3S4|Q9UNK7|Q9UNR7|Q9UNR8|Q9UPF5	Missense_Mutation	SNP	ENST00000509734.1	37	c.1402G>T	CCDS4003.1	.	.	.	.	.	.	.	.	.	.	G	15.22	2.768640	0.49680	.	.	ENSG00000152942	ENST00000361732;ENST00000509734;ENST00000354868;ENST00000521422;ENST00000354312;ENST00000345306;ENST00000305138;ENST00000282891;ENST00000358030;ENST00000380774;ENST00000513214	T;T;T;T;T;T;T;T;T;T;T	0.32272	1.9;1.9;1.9;1.9;1.9;1.9;1.9;1.9;1.9;1.9;1.46	5.02	3.22	0.36961	.	0.409735	0.26231	N	0.025567	T	0.32315	0.0825	L	0.42245	1.32	0.43430	D	0.995593	P;B;P	0.45044	0.849;0.447;0.818	P;B;B	0.49799	0.622;0.108;0.407	T	0.02617	-1.1133	10	0.27785	T	0.31	-20.8571	9.993	0.41883	0.1694:0.0:0.8306:0.0	.	468;371;457	O75943;O75943-4;O75943-2	RAD17_HUMAN;.;.	L	457;468;457;292;457;457;457;371;292;468;76	ENSP00000355226:V457L;ENSP00000426191:V468L;ENSP00000346938:V457L;ENSP00000427743:V292L;ENSP00000346271:V457L;ENSP00000311227:V457L;ENSP00000303134:V457L;ENSP00000282891:V371L;ENSP00000350725:V292L;ENSP00000370151:V468L;ENSP00000425005:V76L	ENSP00000282891:V371L	V	+	1	0	RAD17	68725030	1.000000	0.71417	1.000000	0.80357	0.894000	0.52154	5.198000	0.65147	1.108000	0.41662	0.460000	0.39030	GTG		0.328	RAD17-008	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369171.1	NM_133344		5	54	1	0	3.59834e-05	1	3.93152e-05	5	54					T	68689274	G	T	68689274	3	4	118	1	0	0	0	0	1	0	0	0	12979	1377	48	5	1461	5	RAD17	5	68689274	Missense_Mutation	SNP	G	TCGA-EJ-A65B-01A-12D-A30E-08	13217267	68689274	112225986	15	6217											
PCDHB2	56133	broad.mit.edu	37	chr5	140475929	140475929	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acggccacctgttcgctctcCagtcgctggactacgaggcc	6	8	11	16	4	1	0	0	0	1	0	4	2	1	1	4	3	1	3	4	3	1	2			TCGA-EJ-A65B-01A-12D-A30E-08	TCGA-EJ-A65B-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf03c931-271d-477f-ba45-74d7d52ae213	8beb42cb-e084-42a5-89a2-8cf1f0810a67	g.chr5:140475929C>A	ENST00000194155.4	+	1	1703	c.1555C>A	c.(1555-1557)Cag>Aag	p.Q519K		NM_018936.2	NP_061759.1	Q9Y5E7	PCDB2_HUMAN	protocadherin beta 2	519	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GTTCGCTCTCCAGTCGCTGGA	0.716																																						ENST00000194155.4																			0				NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	71						c.(1555-1557)Cag>Aag									91	98	96					5																	140475929		2203	4300	6503	SO:0001583	missense	0				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	g.chr5:140475929C>A	AF152495	CCDS4244.1	5q31	2010-01-26			ENSG00000112852	ENSG00000112852		"Cadherins / Protocadherins : Clustered"	8687	other	protocadherin		606328				10380929	Standard	NM_018936		Approved	PCDH-BETA2	uc003lil.3	Q9Y5E7	OTTHUMG00000129606	ENST00000194155.4:c.1555C>A	5.37:g.140475929C>A	ENSP00000194155:p.Gln519Lys						p.Q519K	NM_018936.2	NP_061759.1	Q9Y5E7	PCDB2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1703	+			519			Cadherin 5.		Q4KMU1	Missense_Mutation	SNP	ENST00000194155.4	37	c.1555C>A	CCDS4244.1	.	.	.	.	.	.	.	.	.	.	C	7.004	0.555403	0.13436	.	.	ENSG00000112852	ENST00000194155	T	0.01685	4.69	4.5	-6.45	0.01914	Cadherin (5);Cadherin-like (1);	.	.	.	.	T	0.01254	0.0041	N	0.02213	-0.635	0.09310	N	1	B	0.02656	0.0	B	0.09377	0.004	T	0.46527	-0.9185	9	0.66056	D	0.02	.	22.5788	0.99973	0.1734:0.8266:0.0:0.0	.	519	Q9Y5E7	PCDB2_HUMAN	K	519	ENSP00000194155:Q519K	ENSP00000194155:Q519K	Q	+	1	0	PCDHB2	140456113	0.000000	0.05858	0.000000	0.03702	0.470000	0.32858	-1.436000	0.02421	-1.375000	0.02129	-1.574000	0.00870	CAG		0.716	PCDHB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251801.2	NM_018936		5	285	1	0	0.184627	1	0.191105	5	285					A	140475929	C	A	140475929	3	1	118	1	0	0	0	0	1	0	0	0	11542	595	21	5	1557	5	PCDHB2	5	140475929	Missense_Mutation	SNP	C	TCGA-EJ-A65B-01A-12D-A30E-08	71786655	140475929	40439331	16	6218											
FAM50B	26240	broad.mit.edu	37	chr6	3850337	3850337	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gccagcacctggaggagcagCggctgcagcaggagcggcag	9	2	18	12	2	0	0	0	0	0	0	0	3	0	3	2	5	6	6	2	5	0	0			TCGA-EJ-A65B-01A-12D-A30E-08	TCGA-EJ-A65B-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf03c931-271d-477f-ba45-74d7d52ae213	8beb42cb-e084-42a5-89a2-8cf1f0810a67	g.chr6:3850337C>T	ENST00000380274.1	+	1	718	c.292C>T	c.(292-294)Cgg>Tgg	p.R98W	FAM50B_ENST00000380272.3_Missense_Mutation_p.R98W			Q9Y247	FA50B_HUMAN	family with sequence similarity 50, member B	98						nucleus (GO:0005634)				cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|pancreas(1)|prostate(3)|urinary_tract(3)	17	Ovarian(93;0.0925)	all_hematologic(90;0.108)				GGAGGagcagcggctgcagca	0.687																																						ENST00000380274.1																			0				cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|pancreas(1)|prostate(3)|urinary_tract(3)	17						c.(292-294)Cgg>Tgg		family with sequence similarity 50, member B							11	16	14					6																	3850337		2192	4284	6476	SO:0001583	missense	26240					nucleus		g.chr6:3850337C>T	Y18504	CCDS4487.1	6p25.2	2008-05-15			ENSG00000145945	ENSG00000145945			18789	protein-coding gene	gene with protein product		614686				10534398	Standard	NM_012135		Approved	D6S2654E, X5L	uc003mvu.3	Q9Y247	OTTHUMG00000014147	ENST00000380274.1:c.292C>T	6.37:g.3850337C>T	ENSP00000369627:p.Arg98Trp					FAM50B_ENST00000380272.3_Missense_Mutation_p.R98W	p.R98W			Q9Y247	FA50B_HUMAN			1	718	+	Ovarian(93;0.0925)	all_hematologic(90;0.108)	98					Q5T2L6	Missense_Mutation	SNP	ENST00000380274.1	37	c.292C>T	CCDS4487.1	.	.	.	.	.	.	.	.	.	.	C	13.84	2.356274	0.41700	.	.	ENSG00000145945	ENST00000380274;ENST00000380272	.	.	.	4.17	-0.209	0.13180	.	0.294875	0.31577	N	0.007402	T	0.26231	0.0640	N	0.22421	0.69	0.09310	N	1	D	0.57899	0.981	P	0.58970	0.849	T	0.33803	-0.9854	9	0.72032	D	0.01	-19.7017	11.9673	0.53042	0.5934:0.4066:0.0:0.0	.	98	Q9Y247	FA50B_HUMAN	W	98	.	ENSP00000369625:R98W	R	+	1	2	FAM50B	3795336	0.012000	0.17670	0.001000	0.08648	0.127000	0.20565	-0.003000	0.12901	-0.152000	0.11156	0.485000	0.47835	CGG		0.687	FAM50B-002	NOVEL	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039693.1	NM_012135		3	32	0	0	0	1	0	3	32					T	3850337	C	T	3850337	3	4	118	1	0	0	0	0	1	0	0	0	5578	759	27	1	294	1	FAM50B	6	3850337	Missense_Mutation	SNP	C	TCGA-EJ-A65B-01A-12D-A30E-08		3850337	167264730	17	6219											
KIAA0240	23506	broad.mit.edu	37	chr6	42833111	42833111	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcctggaaaagttcatccCggaccacagtgaaggtgttg	10	9	12	10	1	1	1	1	1	0	0	2	3	2	3	3	3	1	2	3	3	3	2			TCGA-EJ-A65B-01A-12D-A30E-08	TCGA-EJ-A65B-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf03c931-271d-477f-ba45-74d7d52ae213	8beb42cb-e084-42a5-89a2-8cf1f0810a67	g.chr6:42833111C>T	ENST00000314073.5	+	13	3343	c.3167C>T	c.(3166-3168)cCg>cTg	p.P1056L	GLTSCR1L_ENST00000394168.1_Missense_Mutation_p.P1056L			Q6AI39	GSC1L_HUMAN	GLTSCR1-like	1056																	AAGTTCATCCCGGACCACAGT	0.498																																						ENST00000314073.5																			0											c.(3166-3168)cCg>cTg		GLTSCR1-like							81	91	87					6																	42833111		2203	4300	6503	SO:0001583	missense	23506							g.chr6:42833111C>T	AL833540	CCDS34451.1	6p21.1	2012-11-29	2012-11-29	2012-11-29	ENSG00000112624	ENSG00000112624			21111	protein-coding gene	gene with protein product			"KIAA0240"	KIAA0240			Standard	XM_005248972		Approved		uc003osp.1	Q6AI39	OTTHUMG00000014706	ENST00000314073.5:c.3167C>T	6.37:g.42833111C>T	ENSP00000313933:p.Pro1056Leu					GLTSCR1L_ENST00000394168.1_Missense_Mutation_p.P1056L	p.P1056L							13	3343	+								A1L3W2|Q5TFZ3|Q92514	Missense_Mutation	SNP	ENST00000314073.5	37	c.3167C>T	CCDS34451.1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.397348	0.83120	.	.	ENSG00000112624	ENST00000394167;ENST00000314073;ENST00000394168	T;T	0.53206	0.63;0.63	5.47	5.47	0.80525	.	0.000000	0.64402	D	0.000003	T	0.27419	0.0673	L	0.27053	0.805	0.58432	D	0.999996	P	0.34837	0.472	B	0.32928	0.155	T	0.26677	-1.0096	10	0.87932	D	0	-16.0856	19.3172	0.94220	0.0:1.0:0.0:0.0	.	1056	Q6AI39	K0240_HUMAN	L	1056	ENSP00000313933:P1056L;ENSP00000377723:P1056L	ENSP00000313933:P1056L	P	+	2	0	KIAA0240	42941089	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	5.288000	0.65651	2.560000	0.86352	0.591000	0.81541	CCG		0.498	GLTSCR1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040562.3	NM_015349		4	170	0	0	0	1	0	4	170					T	42833111	C	T	42833111	3	4	118	1	0	0	0	0	1	0	0	0	8164	652	23	2	3209	2	KIAA0240	6	42833111	Missense_Mutation	SNP	C	TCGA-EJ-A65B-01A-12D-A30E-08	38982774	42833111	128281956	18	6220											
FBXO30	84085	broad.mit.edu	37	chr6	146125919	146125919	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgagtccagcatgaatgtcAccatgcacattcttaaagtg	12	12	8	9	0	2	2	1	2	1	0	3	2	3	2	2	0	2	2	2	0	3	3			TCGA-EJ-A65B-01A-12D-A30E-08	TCGA-EJ-A65B-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf03c931-271d-477f-ba45-74d7d52ae213	8beb42cb-e084-42a5-89a2-8cf1f0810a67	g.chr6:146125919A>C	ENST00000237281.4	-	2	1789	c.1623T>G	c.(1621-1623)ggT>ggG	p.G541G		NM_032145.4	NP_115521.3	Q8TB52	FBX30_HUMAN	F-box protein 30	541							ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26		Ovarian(120;0.0776)		OV - Ovarian serous cystadenocarcinoma(155;1.95e-07)|GBM - Glioblastoma multiforme(68;0.0149)		CATGAATGTCACCATGCACAT	0.423																																						ENST00000237281.4																			0				NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						c.(1621-1623)ggT>ggG		F-box protein 30							112	102	105					6																	146125919		2203	4299	6502	SO:0001819	synonymous_variant	84085						ubiquitin-protein ligase activity|zinc ion binding	g.chr6:146125919A>C	AF248640	CCDS5208.1	6q24	2008-02-05	2004-06-15		ENSG00000118496	ENSG00000118496		"F-boxes /  "other""	15600	protein-coding gene	gene with protein product		609101	"F-box only protein, helicase, 18"				Standard	XM_005267159		Approved	MGC21674, Fbx30	uc003qla.3	Q8TB52	OTTHUMG00000015749	ENST00000237281.4:c.1623T>G	6.37:g.146125919A>C							p.G541G	NM_032145.4	NP_115521.3	Q8TB52	FBX30_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;1.95e-07)|GBM - Glioblastoma multiforme(68;0.0149)	2	1789	-		Ovarian(120;0.0776)	541					Q9BXZ7	Silent	SNP	ENST00000237281.4	37	c.1623T>G	CCDS5208.1																																																																																				0.423	FBXO30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042570.2			14	116	0	0	0	1	0	14	116					C	146125919	A	C	146125919	2	2	118	1	0	0	0	0	0	0	0	1	5740	146	6	5		5	FBXO30	6	146125919	Silent	SNP	A	TCGA-EJ-A65B-01A-12D-A30E-08	103292808	146125919	24989148	19	6221											
ADCYAP1R1	117	broad.mit.edu	37	chr7	31126609	31126609	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acgctgagactctactttgaTgacacagggttagtacatgc	11	11	10	9	1	1	3	0	3	1	1	1	4	1	3	0	1	3	3	0	1	3	4			TCGA-EJ-A65B-01A-12D-A30E-08	TCGA-EJ-A65B-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf03c931-271d-477f-ba45-74d7d52ae213	8beb42cb-e084-42a5-89a2-8cf1f0810a67	g.chr7:31126609T>G	ENST00000304166.4	+	11	1165	c.876T>G	c.(874-876)gaT>gaG	p.D292E	ADCYAP1R1_ENST00000409489.1_Missense_Mutation_p.D292E|ADCYAP1R1_ENST00000409363.1_Missense_Mutation_p.D271E|ADCYAP1R1_ENST00000396211.2_Missense_Mutation_p.D292E	NM_001118.4|NM_001199635.1|NM_001199636.1	NP_001109.2|NP_001186564.1|NP_001186565.1	P41586	PACR_HUMAN	adenylate cyclase activating polypeptide 1 (pituitary) receptor type I	292					activation of adenylate cyclase activity (GO:0007190)|cell differentiation (GO:0030154)|cell surface receptor signaling pathway (GO:0007166)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|spermatogenesis (GO:0007283)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	receptor activity (GO:0004872)|vasoactive intestinal polypeptide receptor activity (GO:0004999)			endometrium(1)|large_intestine(4)|liver(2)|lung(24)|ovary(1)|skin(2)|stomach(1)	35						TCTACTTTGATGACACAGGGT	0.512																																					Ovarian(44;225 1186 2158 11092)	ENST00000304166.4																			0				endometrium(1)|large_intestine(4)|liver(2)|lung(24)|ovary(1)|skin(2)|stomach(1)	35						c.(874-876)gaT>gaG		adenylate cyclase activating polypeptide 1 (pituitary) receptor type I							210	187	194					7																	31126609		2203	4300	6503	SO:0001583	missense	117				activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|spermatogenesis	integral to plasma membrane	vasoactive intestinal polypeptide receptor activity	g.chr7:31126609T>G		CCDS5433.1, CCDS56480.1, CCDS56481.1	7p14.3	2012-09-20			ENSG00000078549	ENSG00000078549		"GPCR / Class B : VIP and PACAP (ADCYAP1) receptors"	242	protein-coding gene	gene with protein product	"PACAP receptor 1"	102981				7902709	Standard	NM_001199635		Approved	PAC1, PACAPR, PAC1R	uc003tcg.3	P41586	OTTHUMG00000023884	ENST00000304166.4:c.876T>G	7.37:g.31126609T>G	ENSP00000306620:p.Asp292Glu					ADCYAP1R1_ENST00000409489.1_Missense_Mutation_p.D292E|ADCYAP1R1_ENST00000396211.2_Missense_Mutation_p.D292E|ADCYAP1R1_ENST00000409363.1_Missense_Mutation_p.D271E	p.D292E	NM_001118.4|NM_001199635.1|NM_001199636.1	NP_001109.2|NP_001186564.1|NP_001186565.1	P41586	PACR_HUMAN			11	1165	+			292					A8K1Y1|B7ZLA7|B8ZZK3|Q17S10	Missense_Mutation	SNP	ENST00000304166.4	37	c.876T>G	CCDS5433.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	2.537|2.537	-0.307207|-0.307207	0.05458|0.05458	.|.	.|.	ENSG00000078549|ENSG00000078549	ENST00000304166;ENST00000381667;ENST00000409363;ENST00000396211;ENST00000409489|ENST00000436116	T;T;T;T|.	0.38560|.	1.13;1.23;1.23;1.23|.	5.56|5.56	0.326|0.326	0.15908|0.15908	GPCR, family 2-like (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.25195|.	0.0612|.	N|N	0.02830|0.02830	-0.485|-0.485	0.53005|0.53005	D|D	0.999966|0.999966	B;B;B;B;B|.	0.23990|.	0.095;0.034;0.095;0.012;0.034|.	B;B;B;B;B|.	0.31390|.	0.068;0.041;0.129;0.041;0.041|.	T|.	0.04078|.	-1.0979|.	10|.	0.02654|.	T|.	1|.	.|.	9.1418|9.1418	0.36908|0.36908	0.0:0.3048:0.0:0.6952|0.0:0.3048:0.0:0.6952	.|.	292;292;292;271;292|.	B7ZLA7;Q17S10;E9PFU5;B8ZZK3;P41586|.	.;.;.;.;PACR_HUMAN|.	E|G	292;63;271;292;292|9	ENSP00000306620:D292E;ENSP00000387335:D271E;ENSP00000379514:D292E;ENSP00000386395:D292E|.	ENSP00000306620:D292E|.	D|X	+|+	3|1	2|0	ADCYAP1R1|ADCYAP1R1	31093134|31093134	1.000000|1.000000	0.71417|0.71417	0.742000|0.742000	0.31022|0.31022	0.585000|0.585000	0.36419|0.36419	0.555000|0.555000	0.23422|0.23422	0.062000|0.062000	0.16340|0.16340	0.528000|0.528000	0.53228|0.53228	GAT|TGA		0.512	ADCYAP1R1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000215041.3	NM_001118		20	135	0	0	0	1	0	20	135					G	31126609	T	G	31126609	3	3	118	1	0	0	0	0	1	0	0	0	303	1461	51	5	914	5	ADCYAP1R1	7	31126609	Missense_Mutation	SNP	T	TCGA-EJ-A65B-01A-12D-A30E-08		31126609	128012054	20	6222											
POM121	9883	broad.mit.edu	37	chr7	72398976	72398976	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atttgagcccctggtggccaAtggagtccccgcttcttttg	5	13	11	12	1	1	1	0	1	1	0	2	2	2	2	5	3	1	1	5	3	1	4	rs147859349		TCGA-EJ-A65B-01A-12D-A30E-08	TCGA-EJ-A65B-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf03c931-271d-477f-ba45-74d7d52ae213	8beb42cb-e084-42a5-89a2-8cf1f0810a67	g.chr7:72398976A>G	ENST00000434423.2	+	4	1076	c.1076A>G	c.(1075-1077)aAt>aGt	p.N359S	POM121_ENST00000358357.3_Missense_Mutation_p.N94S|POM121_ENST00000446813.1_Missense_Mutation_p.N94S|POM121_ENST00000257622.4_Missense_Mutation_p.N94S|POM121_ENST00000395270.1_Missense_Mutation_p.N94S			Q96HA1	P121A_HUMAN	POM121 transmembrane nucleoporin	359	Pore side. {ECO:0000255}.				carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	endoplasmic reticulum (GO:0005783)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)				NS(1)|breast(1)|endometrium(9)|kidney(4)|large_intestine(6)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Lung NSC(55;0.163)				CTGGTGGCCAATGGAGTCCCC	0.468													.|||	1	0.000199681	8e-04	0	5008	,	,		16715	0		0	False		,,,				2504	0					ENST00000395270.1																			0				NS(1)|breast(1)|endometrium(9)|kidney(4)|large_intestine(6)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						c.(280-282)aAt>aGt		POM121 transmembrane nucleoporin							189	188	188					7																	72398976		2203	4300	6503	SO:0001583	missense	9883				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore		g.chr7:72398976A>G	AB014518	CCDS5542.1, CCDS59059.1	7q11.23	2013-01-08	2012-03-13		ENSG00000196313	ENSG00000196313		"-"	19702	protein-coding gene	gene with protein product		615753	"POM121 membrane glycoprotein (rat)", "POM121 membrane glycoprotein"			8335683, 9734811, 17900573	Standard	NM_172020		Approved	KIAA0618, DKFZP586G1822, DKFZP586P2220, POM121A	uc003twk.2	Q96HA1	OTTHUMG00000023527	ENST00000434423.2:c.1076A>G	7.37:g.72398976A>G	ENSP00000405562:p.Asn359Ser					POM121_ENST00000446813.1_Missense_Mutation_p.N94S|POM121_ENST00000358357.3_Missense_Mutation_p.N94S|POM121_ENST00000257622.4_Missense_Mutation_p.N94S|POM121_ENST00000434423.2_Missense_Mutation_p.N359S	p.N94S	NM_001257190.1	NP_001244119.1	Q96HA1	P121A_HUMAN			7	1322	+		Lung NSC(55;0.163)	359			Pore side (Potential).|Required for targeting to the nucleus and nuclear pore complex.		A6NFS9|A8CDT4|A8K933|A8MXF9|O75115|Q96DI0|Q9H9X1|Q9Y2N3|Q9Y4S7	Missense_Mutation	SNP	ENST00000434423.2	37	c.281A>G		.	.	.	.	.	.	.	.	.	.	G	12.65	2.002131	0.35320	.	.	ENSG00000196313	ENST00000446813;ENST00000257622;ENST00000395270;ENST00000358357;ENST00000434423	T;T;T;T;T	0.14266	2.52;2.52;2.52;2.52;2.52	3.99	3.99	0.46301	.	0.154071	0.30020	N	0.010614	T	0.13457	0.0326	L	0.57536	1.79	0.32153	N	0.584002	B;B	0.31193	0.312;0.006	B;B	0.26202	0.067;0.053	T	0.08066	-1.0740	10	0.30078	T	0.28	.	10.8045	0.46509	1.0:0.0:0.0:0.0	.	94;359	A8MXF9;Q96HA1	.;P121A_HUMAN	S	94;94;94;94;359	ENSP00000393020:N94S;ENSP00000257622:N94S;ENSP00000378687:N94S;ENSP00000351124:N94S;ENSP00000405562:N359S	ENSP00000257622:N94S	N	+	2	0	POM121	72036912	1.000000	0.71417	1.000000	0.80357	0.786000	0.44442	5.143000	0.64826	1.663000	0.50791	0.373000	0.22412	AAT		0.468	POM121-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000347344.1			6	285	0	0	0	1	0	6	285					G	72398976	A	G	72398976	3	3	118	1	0	0	0	0	1	0	0	0	12239	101	4	4	291	4	POM121	7	72398976	Missense_Mutation	SNP	A	TCGA-EJ-A65B-01A-12D-A30E-08	41272367	72398976	86739687	21	6223											
MUC17	140453	broad.mit.edu	37	chr7	100683986	100683986	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctgaaggtaccagcatgccaAtctcaacttatagtgaagga	14	9	9	9	0	1	2	1	2	1	0	2	3	1	3	2	2	4	2	2	2	7	3	rs534027626		TCGA-EJ-A65B-01A-12D-A30E-08	TCGA-EJ-A65B-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf03c931-271d-477f-ba45-74d7d52ae213	8beb42cb-e084-42a5-89a2-8cf1f0810a67	g.chr7:100683986A>T	ENST00000306151.4	+	3	9353	c.9289A>T	c.(9289-9291)Atc>Ttc	p.I3097F		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	3097	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CAGCATGCCAATCTCAACTTA	0.488																																						ENST00000306151.4																			0				NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343						c.(9289-9291)Atc>Ttc		mucin 17, cell surface associated							262	265	264					7																	100683986		2203	4300	6503	SO:0001583	missense	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100683986A>T	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"Mucins"	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.9289A>T	7.37:g.100683986A>T	ENSP00000302716:p.Ile3097Phe						p.I3097F	NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN			3	9353	+	Lung NSC(181;0.136)|all_lung(186;0.182)		3097			59 X approximate tandem repeats.|Ser-rich.		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	c.9289A>T	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	a	9.324	1.058737	0.19987	.	.	ENSG00000169876	ENST00000306151	T	0.02395	4.31	1.15	-2.29	0.06805	.	.	.	.	.	T	0.03434	0.0099	N	0.14661	0.345	0.09310	N	1	P	0.44006	0.824	P	0.58520	0.84	T	0.38436	-0.9661	9	0.62326	D	0.03	.	0.4182	0.00452	0.2:0.2411:0.3172:0.2417	.	3097	Q685J3	MUC17_HUMAN	F	3097	ENSP00000302716:I3097F	ENSP00000302716:I3097F	I	+	1	0	MUC17	100470706	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.603000	0.05674	-0.559000	0.06110	0.102000	0.15555	ATC		0.488	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		6	701	0	0	0	1	0	6	701					T	100683986	A	T	100683986	3	4	118	1	0	0	0	0	1	0	0	0	9974	101	4	5	9299	5	MUC17	7	100683986	Missense_Mutation	SNP	A	TCGA-EJ-A65B-01A-12D-A30E-08	28285010	100683986	58454677	22	6224											
TAS2R38	5726	broad.mit.edu	37	chr7	141672669	141672669	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatcacccctattttgtcgCgccacagaatcagtaggggc	9	9	9	14	2	2	1	2	0	0	1	3	1	2	1	4	2	0	1	4	2	3	4	rs139085046	byFrequency	TCGA-EJ-A65B-01A-12D-A30E-08	TCGA-EJ-A65B-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf03c931-271d-477f-ba45-74d7d52ae213	8beb42cb-e084-42a5-89a2-8cf1f0810a67	g.chr7:141672669C>T	ENST00000547270.1	-	1	904	c.821G>A	c.(820-822)cGc>cAc	p.R274H		NM_176817.4	NP_789787	P59533	T2R38_HUMAN	taste receptor, type 2, member 38	274					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)	p.R274H(1)		NS(2)|breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|skin(1)|stomach(1)	21	Melanoma(164;0.0171)					TATTTTGTCGCGCCACAGAAT	0.502																																						ENST00000547270.1																			1	Substitution - Missense(1)	p.R274H(1)	kidney(1)	NS(2)|breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|skin(1)|stomach(1)	21						c.(820-822)cGc>cAc		taste receptor, type 2, member 38		C	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	77	74	75		821	0.7	0.4	7	dbSNP_134	75	4,8596	3.7+/-12.6	0,4,4296	yes	missense	TAS2R38	NM_176817.4	29	0,5,6498	TT,TC,CC		0.0465,0.0227,0.0384	benign	274/334	141672669	5,13001	2203	4300	6503	SO:0001583	missense	5726				sensory perception of taste	integral to membrane	G-protein coupled receptor activity	g.chr7:141672669C>T	AF494231	CCDS34765.1	7q34	2012-10-03	2003-05-29	2003-05-30	ENSG00000257138	ENSG00000257138		"Taste receptors / Type 2", "GPCR / Unclassified : Taste receptors"	9584	protein-coding gene	gene with protein product		607751	"phenylthiocarbamide tasting"	PTC		12624758, 12584440	Standard	NM_176817		Approved	T2R61	uc003vwx.1	P59533	OTTHUMG00000158374	ENST00000547270.1:c.821G>A	7.37:g.141672669C>T	ENSP00000448219:p.Arg274His						p.R274H	NM_176817.4	NP_789787.4	P59533	T2R38_HUMAN			1	904	-	Melanoma(164;0.0171)		274					A4D1U6|P59552|Q2M3E8|Q645W3|Q86UK3	Missense_Mutation	SNP	ENST00000547270.1	37	c.821G>A	CCDS34765.1	.	.	.	.	.	.	.	.	.	.	C	0.112	-1.137168	0.01742	2.27E-4	4.65E-4	ENSG00000257138	ENST00000547270	T	0.00745	5.75	4.35	0.706	0.18133	.	0.826911	0.10796	N	0.633258	T	0.00328	0.0010	N	0.00690	-1.25	0.09310	N	0.99999	B	0.06786	0.001	B	0.04013	0.001	T	0.41070	-0.9529	10	0.20046	T	0.44	.	6.29	0.21054	0.0:0.3047:0.0:0.6953	.	274	P59533	T2R38_HUMAN	H	274	ENSP00000448219:R274H	ENSP00000331291:R274H	R	-	2	0	TAS2R38	141319138	0.048000	0.20356	0.396000	0.26296	0.035000	0.12851	0.491000	0.22419	0.122000	0.18314	-1.004000	0.02495	CGC		0.502	TAS2R38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350810.2	NM_176817		7	98	0	0	0	1	0	7	98					T	141672669	C	T	141672669	3	4	118	1	0	0	0	0	1	0	0	0	15572	768	27	1	184	1	TAS2R38	7	141672669	Missense_Mutation	SNP	C	TCGA-EJ-A65B-01A-12D-A30E-08	40988683	141672669	17465994	23	6225											
SVEP1	79987	broad.mit.edu	37	chr9	113170553	113170553	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tccattggggatttcctcagGttggggacattctactggaa	8	13	12	8	0	2	0	1	0	1	0	4	3	4	3	2	6	1	1	2	6	2	5			TCGA-EJ-A65B-01A-12D-A30E-08	TCGA-EJ-A65B-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf03c931-271d-477f-ba45-74d7d52ae213	8beb42cb-e084-42a5-89a2-8cf1f0810a67	g.chr9:113170553G>T	ENST00000401783.2	-	38	7663	c.7327C>A	c.(7327-7329)Cct>Act	p.P2443T	SVEP1_ENST00000297826.5_Missense_Mutation_p.P369T|SVEP1_ENST00000374469.1_Missense_Mutation_p.P2420T	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	2443	Sushi 18. {ECO:0000255|PROSITE- ProRule:PRU00302}.				cell adhesion (GO:0007155)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|chromatin binding (GO:0003682)			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						ATTTCCTCAGGTTGGGGACAT	0.498																																						ENST00000401783.2																			0				NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						c.(7327-7329)Cct>Act		sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1							56	54	55					9																	113170553		1936	4147	6083	SO:0001583	missense	79987				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding	g.chr9:113170553G>T	AK027870		9q31-q32	2008-02-05	2005-03-15	2005-03-17	ENSG00000165124	ENSG00000165124			15985	protein-coding gene	gene with protein product		611691	"chromosome 9 open reading frame 13"	C9orf13			Standard	NM_153366		Approved	bA427L11.3, POLYDOM, FLJ13529	uc010mtz.3	Q4LDE5	OTTHUMG00000020482	ENST00000401783.2:c.7327C>A	9.37:g.113170553G>T	ENSP00000384917:p.Pro2443Thr					SVEP1_ENST00000374469.1_Missense_Mutation_p.P2420T|SVEP1_ENST00000297826.5_Missense_Mutation_p.P369T	p.P2443T	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN			38	7663	-			2443			Sushi 18.		Q0P675|Q5D213|Q5T938|Q5VTE4|Q5VTE5|Q7Z387|Q7Z3G3|Q8NBT9|Q96JU7|Q9H284|Q9H8J9	Missense_Mutation	SNP	ENST00000401783.2	37	c.7327C>A	CCDS48004.1	.	.	.	.	.	.	.	.	.	.	G	19.46	3.832232	0.71258	.	.	ENSG00000165124	ENST00000401783;ENST00000374469;ENST00000297826;ENST00000374463	D;D;D	0.84800	-1.9;-1.9;-1.9	5.69	5.69	0.88448	Complement control module (2);Sushi/SCR/CCP (3);	0.000000	0.85682	D	0.000000	D	0.93572	0.7948	M	0.89163	3.01	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.91842	0.5484	10	0.28530	T	0.3	.	19.819	0.96583	0.0:0.0:1.0:0.0	.	2443	Q4LDE5	SVEP1_HUMAN	T	2443;2420;369;115	ENSP00000384917:P2443T;ENSP00000363593:P2420T;ENSP00000297826:P369T	ENSP00000297826:P369T	P	-	1	0	SVEP1	112210374	1.000000	0.71417	0.976000	0.42696	0.934000	0.57294	9.622000	0.98378	2.691000	0.91804	0.655000	0.94253	CCT		0.498	SVEP1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				4	61	1	0	0.00024832	1	0.00026638	4	61					T	113170553	G	T	113170553	3	4	118	1	0	0	0	0	1	0	0	0	15417	1261	44	5	3432	5	SVEP1	9	113170553	Missense_Mutation	SNP	G	TCGA-EJ-A65B-01A-12D-A30E-08		113170553	28042878	24	6226											
ZCCHC24	219654	broad.mit.edu	37	chr10	81154106	81154106	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcccaggagttcccgctcaTccattttctcttgcacttgg	5	13	9	14	1	2	0	1	0	1	0	5	1	4	1	3	3	1	3	3	3	0	5			TCGA-EJ-A65B-01A-12D-A30E-08	TCGA-EJ-A65B-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf03c931-271d-477f-ba45-74d7d52ae213	8beb42cb-e084-42a5-89a2-8cf1f0810a67	g.chr10:81154106T>C	ENST00000372336.3	-	3	724	c.538A>G	c.(538-540)Atg>Gtg	p.M180V	RP11-342M3.5_ENST00000438554.2_RNA|ZCCHC24_ENST00000372333.3_Missense_Mutation_p.D120G	NM_153367.3	NP_699198.2	Q8N2G6	ZCH24_HUMAN	zinc finger, CCHC domain containing 24	180							poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|large_intestine(3)|lung(1)|skin(1)	9						TTCCCGCTCATCCATTTTCTC	0.592																																						ENST00000372336.3																			0				breast(1)|endometrium(3)|large_intestine(3)|lung(1)|skin(1)	9						c.(538-540)Atg>Gtg		zinc finger, CCHC domain containing 24							182	141	155					10																	81154106		2203	4300	6503	SO:0001583	missense	219654						nucleic acid binding|zinc ion binding	g.chr10:81154106T>C	AK075279	CCDS7359.1	10q22.3	2014-02-20	2008-06-23	2008-06-23	ENSG00000165424	ENSG00000165424		"Zinc fingers, CCHC domain containing"	26911	protein-coding gene	gene with protein product	"zinc finger, 3CxxC-type 8"		"chromosome 10 open reading frame 56"	C10orf56		12477932	Standard	NM_153367		Approved	FLJ90798, Z3CXXC8	uc010qlr.2	Q8N2G6	OTTHUMG00000018561	ENST00000372336.3:c.538A>G	10.37:g.81154106T>C	ENSP00000361411:p.Met180Val					ZCCHC24_ENST00000372333.3_Missense_Mutation_p.D120G|RP11-342M3.5_ENST00000438554.2_RNA	p.M180V	NM_153367.3	NP_699198.2	Q8N2G6	ZCH24_HUMAN			3	724	-			180					Q5U5T9|Q8TAG0	Missense_Mutation	SNP	ENST00000372336.3	37	c.538A>G	CCDS7359.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	17.18|17.18	3.324329|3.324329	0.60634|0.60634	.|.	.|.	ENSG00000165424|ENSG00000165424	ENST00000372333|ENST00000372336	.|T	.|0.21932	.|1.98	5.31|5.31	5.31|5.31	0.75309|0.75309	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.33352|0.33352	0.0860|0.0860	L|L	0.47716|0.47716	1.5|1.5	0.29528|0.29528	N|N	0.853026|0.853026	D|D	0.89917|0.53312	1.0|0.959	D|P	0.72982|0.54544	0.979|0.755	T|T	0.16129|0.16129	-1.0413|-1.0413	8|10	0.87932|0.59425	D|D	0|0.04	-12.9731|-12.9731	15.2624|15.2624	0.73634|0.73634	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	120|180	Q5W133|Q8N2G6	.|ZCH24_HUMAN	G|V	120|180	.|ENSP00000361411:M180V	ENSP00000361408:D120G|ENSP00000361411:M180V	D|M	-|-	2|1	0|0	ZCCHC24|ZCCHC24	80824112|80824112	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.992000|0.992000	0.81027|0.81027	7.684000|7.684000	0.84104|0.84104	2.006000|2.006000	0.58801|0.58801	0.421000|0.421000	0.28195|0.28195	GAT|ATG		0.592	ZCCHC24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048947.1	NM_153367		9	151	0	0	0	1	0	9	151					C	81154106	T	C	81154106	3	2	118	1	0	0	0	0	1	0	0	0	17585	1435	50	4	195	4	ZCCHC24	10	81154106	Missense_Mutation	SNP	T	TCGA-EJ-A65B-01A-12D-A30E-08		81154106	54380641	25	6227											
NEURL	9148	broad.mit.edu	37	chr10	105330664	105330664	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttccccgtcacttctcacCgatgccaccacaagcagaag	10	7	6	18	2	2	1	2	0	1	1	4	2	3	1	6	0	2	1	6	0	2	2			TCGA-EJ-A65B-01A-12D-A30E-08	TCGA-EJ-A65B-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf03c931-271d-477f-ba45-74d7d52ae213	8beb42cb-e084-42a5-89a2-8cf1f0810a67	g.chr10:105330664C>A	ENST00000369780.4	+	2	530	c.121C>A	c.(121-123)Cga>Aga	p.R41R	NEURL_ENST00000369777.2_Silent_p.R24R	NM_004210.4	NP_004201.3	O76050	NEUL1_HUMAN		41					brain development (GO:0007420)|cellular response to amino acid stimulus (GO:0071230)|lactation (GO:0007595)|negative regulation of cell proliferation (GO:0008285)|negative regulation of Notch signaling pathway (GO:0045746)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|positive regulation of apoptotic process (GO:0043065)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|positive regulation of synapse maturation (GO:0090129)|protein monoubiquitination (GO:0006513)|skeletal muscle tissue development (GO:0007519)|sperm axoneme assembly (GO:0007288)|sperm motility (GO:0030317)	apical dendrite (GO:0097440)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	ligase activity (GO:0016874)|translation factor activity, non-nucleic acid binding (GO:0045183)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(4)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	17				Epithelial(162;2.12e-09)|all cancers(201;6.99e-08)|BRCA - Breast invasive adenocarcinoma(275;0.125)		CACTTCTCACCGATGCCACCA	0.647																																						ENST00000369780.4																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(4)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	17						c.(121-123)Cga>Aga									100	117	111					10																	105330664		2203	4300	6503	SO:0001819	synonymous_variant	0				nervous system development	perinuclear region of cytoplasm	zinc ion binding	g.chr10:105330664C>A																												ENST00000369780.4:c.121C>A	10.37:g.105330664C>A						NEURL_ENST00000369777.2_Silent_p.R24R	p.R41R	NM_004210.4	NP_004201.3	O76050	NEU1A_HUMAN		Epithelial(162;2.12e-09)|all cancers(201;6.99e-08)|BRCA - Breast invasive adenocarcinoma(275;0.125)	2	530	+			41					Q5TDR2|Q5TDR3|Q8TAN0|Q9H463	Silent	SNP	ENST00000369780.4	37	c.121C>A	CCDS7551.1																																																																																				0.647	NEURL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050170.1			5	339	1	0	0.217242	1	0.220988	5	339					A	105330664	C	A	105330664	2	1	118	1	0	0	0	0	0	0	0	1	10345	644	23	5		5	NEURL	10	105330664	Silent	SNP	C	TCGA-EJ-A65B-01A-12D-A30E-08	24176558	105330664	30204083	26	6228											
CKAP5	9793	broad.mit.edu	37	chr11	46798996	46798996	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagttaggtttaccttgctgTctccaaggactgtgatgata	9	14	11	7	0	1	2	0	2	1	0	2	4	1	3	2	2	2	3	2	2	4	5			TCGA-EJ-A65B-01A-12D-A30E-08	TCGA-EJ-A65B-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf03c931-271d-477f-ba45-74d7d52ae213	8beb42cb-e084-42a5-89a2-8cf1f0810a67	g.chr11:46798996T>C	ENST00000529230.1	-	23	2901	c.2855A>G	c.(2854-2856)gAc>gGc	p.D952G	CKAP5_ENST00000312055.5_Missense_Mutation_p.D952G|CKAP5_ENST00000354558.3_Missense_Mutation_p.D952G|CKAP5_ENST00000415402.1_Missense_Mutation_p.D952G			Q14008	CKAP5_HUMAN	cytoskeleton associated protein 5	952					centrosome organization (GO:0051297)|establishment or maintenance of microtubule cytoskeleton polarity (GO:0030951)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|RNA transport (GO:0050658)|spindle organization (GO:0007051)	centrosome (GO:0005813)|cytosol (GO:0005829)|membrane (GO:0016020)|protein complex (GO:0043234)|spindle pole (GO:0000922)				breast(1)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	43						TACCTTGCTGTCTCCAAGGAC	0.403																																					Ovarian(4;85 273 2202 4844 13323)	ENST00000529230.1																			0				breast(1)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	43						c.(2854-2856)gAc>gGc		cytoskeleton associated protein 5							128	117	121					11																	46798996		2201	4299	6500	SO:0001583	missense	9793				cell division|centrosome organization|establishment or maintenance of microtubule cytoskeleton polarity|G2/M transition of mitotic cell cycle|mitotic prometaphase|RNA transport|spindle organization	centrosome|cytosol	protein binding	g.chr11:46798996T>C		CCDS7924.1, CCDS31477.1	11p11.2	2006-09-20			ENSG00000175216	ENSG00000175216			28959	protein-coding gene	gene with protein product		611142				7788527, 8536682	Standard	NM_014756		Approved	ch-TOG, KIAA0097, TOG, TOGp	uc001ndi.2	Q14008	OTTHUMG00000166599	ENST00000529230.1:c.2855A>G	11.37:g.46798996T>C	ENSP00000432768:p.Asp952Gly					CKAP5_ENST00000415402.1_Missense_Mutation_p.D952G|CKAP5_ENST00000312055.5_Missense_Mutation_p.D952G|CKAP5_ENST00000354558.3_Missense_Mutation_p.D952G	p.D952G			Q14008	CKAP5_HUMAN			23	2901	-			952					Q05D70|Q0VAX7|Q0VAX8|Q14668|Q2TA89|Q6NSH4	Missense_Mutation	SNP	ENST00000529230.1	37	c.2855A>G	CCDS31477.1	.	.	.	.	.	.	.	.	.	.	T	26.3	4.729324	0.89390	.	.	ENSG00000175216	ENST00000529230;ENST00000415402;ENST00000312055;ENST00000354558	T;T;T;T	0.70045	-0.45;-0.45;-0.45;-0.45	5.54	5.54	0.83059	Armadillo-like helical (1);Armadillo-type fold (1);CLASP N-terminal domain (1);	0.093310	0.64402	D	0.000001	D	0.83529	0.5274	M	0.84846	2.72	0.80722	D	1	D;D;D	0.89917	1.0;0.996;0.997	D;D;D	0.91635	0.999;0.993;0.996	D	0.86358	0.1715	10	0.72032	D	0.01	-10.1186	15.6788	0.77352	0.0:0.0:0.0:1.0	.	952;952;952	Q14008-3;Q14008-2;Q14008	.;.;CKAP5_HUMAN	G	952	ENSP00000432768:D952G;ENSP00000395302:D952G;ENSP00000310227:D952G;ENSP00000346566:D952G	ENSP00000310227:D952G	D	-	2	0	CKAP5	46755572	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.964000	0.87933	2.110000	0.64415	0.459000	0.35465	GAC		0.403	CKAP5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390679.1	NM_014756		3	26	0	0	0	1	0	3	26					C	46798996	T	C	46798996	3	2	118	1	0	0	0	0	1	0	0	0	3445	1667	58	4	3331	4	CKAP5	11	46798996	Missense_Mutation	SNP	T	TCGA-EJ-A65B-01A-12D-A30E-08		46798996	88207520	27	6229											
OR4A15	81328	broad.mit.edu	37	chr11	55135606	55135606	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatcatggccagccagtccCtgggttcccccatgtacttt	6	11	8	16	0	1	0	1	0	0	0	3	0	3	0	6	2	2	2	6	2	1	3			TCGA-EJ-A65B-01A-12D-A30E-08	TCGA-EJ-A65B-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf03c931-271d-477f-ba45-74d7d52ae213	8beb42cb-e084-42a5-89a2-8cf1f0810a67	g.chr11:55135606C>G	ENST00000314706.3	+	1	247	c.247C>G	c.(247-249)Ctg>Gtg	p.L83V		NM_001005275.1	NP_001005275.1	Q8NGL6	O4A15_HUMAN	olfactory receptor, family 4, subfamily A, member 15	83						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(48)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	71						CAGCCAGTCCCTGGGTTCCCC	0.423																																						ENST00000314706.3																			0				NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(48)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	71						c.(247-249)Ctg>Gtg		olfactory receptor, family 4, subfamily A, member 15							102	97	99					11																	55135606		2201	4296	6497	SO:0001583	missense	81328				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55135606C>G	AB065776	CCDS31500.1	11q11	2012-08-09			ENSG00000181958	ENSG00000181958		"GPCR / Class A : Olfactory receptors"	15152	protein-coding gene	gene with protein product							Standard	NM_001005275		Approved		uc010rif.2	Q8NGL6	OTTHUMG00000166711	ENST00000314706.3:c.247C>G	11.37:g.55135606C>G	ENSP00000325065:p.Leu83Val						p.L83V	NM_001005275.1	NP_001005275.1	Q8NGL6	O4A15_HUMAN			1	247	+			83					Q6IFL4|Q96R65	Missense_Mutation	SNP	ENST00000314706.3	37	c.247C>G	CCDS31500.1	.	.	.	.	.	.	.	.	.	.	c	18.39	3.613883	0.66672	.	.	ENSG00000181958	ENST00000314706	T	0.14022	2.54	3.48	2.53	0.30540	GPCR, rhodopsin-like superfamily (1);	0.000000	0.39687	N	0.001282	T	0.50034	0.1592	H	0.98594	4.275	0.09310	N	0.999999	D	0.89917	1.0	D	0.91635	0.999	T	0.52260	-0.8599	10	0.87932	D	0	.	8.9563	0.35820	0.0:0.8823:0.0:0.1177	.	83	Q8NGL6	O4A15_HUMAN	V	83	ENSP00000325065:L83V	ENSP00000325065:L83V	L	+	1	2	OR4A15	54892182	0.953000	0.32496	0.003000	0.11579	0.791000	0.44710	2.324000	0.43831	0.632000	0.30432	0.492000	0.49549	CTG		0.423	OR4A15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391161.1	NM_001005275		28	142	0	0	0	1	0	28	142					G	55135606	C	G	55135606	3	3	118	1	0	0	0	0	1	0	0	0	11040	680	24	5	249	5	OR4A15	11	55135606	Missense_Mutation	SNP	C	TCGA-EJ-A65B-01A-12D-A30E-08	8336610	55135606	79870910	28	6230											
SNX32	254122	broad.mit.edu	37	chr11	65618619	65618619	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgcgggccgaccgcgtcatgCgcgcccacaagtgtacgcag	7	5	14	15	7	1	0	1	0	0	0	1	1	1	0	3	1	3	2	3	1	2	1	rs147615662	byFrequency	TCGA-EJ-A65B-01A-12D-A30E-08	TCGA-EJ-A65B-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf03c931-271d-477f-ba45-74d7d52ae213	8beb42cb-e084-42a5-89a2-8cf1f0810a67	g.chr11:65618619C>T	ENST00000308342.6	+	7	1122	c.697C>T	c.(697-699)Cgc>Tgc	p.R233C		NM_152760.2	NP_689973.2	Q86XE0	SNX32_HUMAN	sorting nexin 32	233					intracellular protein transport (GO:0006886)	endosome (GO:0005768)	phosphatidylinositol binding (GO:0035091)	p.R233C(1)		endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				READ - Rectum adenocarcinoma(159;0.171)		CCGCGTCATGCGCGCCCACAA	0.632											OREG0021087	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000308342.6																			1	Substitution - Missense(1)	p.R233C(1)	lung(1)	endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						c.(697-699)Cgc>Tgc		sorting nexin 32		C	CYS/ARG	5,4397	9.9+/-24.2	0,5,2196	104	104	104		697	-1.4	0.1	11	dbSNP_134	104	0,8594		0,0,4297	no	missense	SNX32	NM_152760.2	180	0,5,6493	TT,TC,CC		0.0,0.1136,0.0385	possibly-damaging	233/404	65618619	5,12991	2201	4297	6498	SO:0001583	missense	254122				cell communication|protein transport		phosphatidylinositol binding	g.chr11:65618619C>T	AK055496	CCDS8113.2	11q13.1	2008-03-11	2008-03-11	2008-03-11	ENSG00000172803	ENSG00000172803		"Sorting nexins"	26423	protein-coding gene	gene with protein product			"sorting nexin 6B"	SNX6B		16782399	Standard	XM_005273871		Approved	FLJ30934	uc001ofr.3	Q86XE0	OTTHUMG00000128491	ENST00000308342.6:c.697C>T	11.37:g.65618619C>T	ENSP00000310620:p.Arg233Cys		OREG0021087	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1085		p.R233C	NM_152760.2	NP_689973.2	Q86XE0	SNX32_HUMAN		READ - Rectum adenocarcinoma(159;0.171)	7	1122	+			233					Q8IW53|Q96NG4	Missense_Mutation	SNP	ENST00000308342.6	37	c.697C>T	CCDS8113.2	.	.	.	.	.	.	.	.	.	.	C	17.49	3.402618	0.62288	0.001136	0.0	ENSG00000172803	ENST00000308342	T	0.31247	1.5	5.35	-1.38	0.09027	Vps5 C-terminal (1);	0.864072	0.10130	N	0.712211	T	0.28995	0.0720	M	0.78801	2.425	0.33479	D	0.587158	B	0.06786	0.001	B	0.06405	0.002	T	0.31166	-0.9953	10	0.33940	T	0.23	-5.455	4.2597	0.10735	0.2475:0.4607:0.0:0.2918	.	233	Q86XE0	SNX32_HUMAN	C	233	ENSP00000310620:R233C	ENSP00000310620:R233C	R	+	1	0	SNX32	65375195	0.999000	0.42202	0.070000	0.20053	0.878000	0.50629	0.835000	0.27531	-0.096000	0.12329	0.655000	0.94253	CGC		0.632	SNX32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250295.3	NM_152760		5	273	0	0	0	1	0	5	273					T	65618619	C	T	65618619	3	4	118	1	0	0	0	0	1	0	0	0	14902	768	27	1	723	1	SNX32	11	65618619	Missense_Mutation	SNP	C	TCGA-EJ-A65B-01A-12D-A30E-08	10483013	65618619	69387897	29	6231											
PPFIA1	8500	broad.mit.edu	37	chr11	70221156	70221156	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agatgaaaccttcgacttcaGtgcactggcactgctgttac	10	11	9	11	1	1	2	1	1	0	1	2	3	1	2	1	1	4	4	1	1	2	3			TCGA-EJ-A65B-01A-12D-A30E-08	TCGA-EJ-A65B-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf03c931-271d-477f-ba45-74d7d52ae213	8beb42cb-e084-42a5-89a2-8cf1f0810a67	g.chr11:70221156G>T	ENST00000253925.7	+	24	3487	c.3272G>T	c.(3271-3273)aGt>aTt	p.S1091I	AP000487.5_ENST00000500185.2_RNA|PPFIA1_ENST00000530548.1_3'UTR|AP000487.5_ENST00000530690.1_RNA|PPFIA1_ENST00000389547.3_Missense_Mutation_p.S1091I	NM_003626.3	NP_003617.1	Q13136	LIPA1_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 1	1091	SAM 3. {ECO:0000255|PROSITE- ProRule:PRU00184}.				cell-matrix adhesion (GO:0007160)|negative regulation of establishment of protein localization to plasma membrane (GO:0090005)|negative regulation of stress fiber assembly (GO:0051497)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|presynaptic active zone (GO:0048786)	signal transducer activity (GO:0004871)			breast(3)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	65			BRCA - Breast invasive adenocarcinoma(2;1.04e-44)|LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513)			TTCGACTTCAGTGCACTGGCA	0.483																																						ENST00000253925.7																			0				breast(3)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	65						c.(3271-3273)aGt>aTt		protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 1							101	82	89					11																	70221156		2200	4294	6494	SO:0001583	missense	8500				cell-matrix adhesion	cytoplasm	protein binding|signal transducer activity	g.chr11:70221156G>T	U22816	CCDS31627.1, CCDS31628.1	11q13.3	2013-01-10			ENSG00000131626	ENSG00000131626		"Sterile alpha motif (SAM) domain containing"	9245	protein-coding gene	gene with protein product	"Liprin-alpha1"	611054				7796809, 9624153	Standard	NM_003626		Approved	LIP.1, LIPRIN	uc001opo.3	Q13136	OTTHUMG00000167266	ENST00000253925.7:c.3272G>T	11.37:g.70221156G>T	ENSP00000253925:p.Ser1091Ile					AP000487.5_ENST00000530690.1_RNA|PPFIA1_ENST00000530548.1_3'UTR|PPFIA1_ENST00000389547.3_Missense_Mutation_p.S1091I|AP000487.5_ENST00000500185.2_RNA	p.S1091I	NM_003626.3	NP_003617.1	Q13136	LIPA1_HUMAN	BRCA - Breast invasive adenocarcinoma(2;1.04e-44)|LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513)		24	3487	+			1091			SAM 3.		A6NLE3|Q13135|Q14567|Q8N4I2	Missense_Mutation	SNP	ENST00000253925.7	37	c.3272G>T	CCDS31627.1	.	.	.	.	.	.	.	.	.	.	G	8.624	0.892018	0.17613	.	.	ENSG00000131626	ENST00000253925;ENST00000389547;ENST00000544950	D;D	0.85556	-2.0;-2.0	5.61	-7.64	0.01286	Sterile alpha motif domain (2);Sterile alpha motif/pointed domain (1);Sterile alpha motif, type 2 (1);	0.190184	0.43260	U	0.000587	T	0.78451	0.4285	M	0.65975	2.015	0.19775	N	0.999951	B;B;B	0.19935	0.001;0.001;0.04	B;B;B	0.12837	0.005;0.006;0.008	T	0.61554	-0.7039	10	0.72032	D	0.01	.	11.9454	0.52926	0.7033:0.1842:0.1125:0.0	.	588;1091;1091	F5H1G2;Q13136;Q13136-2	.;LIPA1_HUMAN;.	I	1091;1091;588	ENSP00000253925:S1091I;ENSP00000374198:S1091I	ENSP00000253925:S1091I	S	+	2	0	PPFIA1	69898804	0.003000	0.15002	0.000000	0.03702	0.003000	0.03518	0.054000	0.14205	-1.410000	0.02035	-0.300000	0.09419	AGT		0.483	PPFIA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000393905.1	NM_003626		4	26	1	0	0.00909568	1	0.00958295	4	26					T	70221156	G	T	70221156	3	4	118	1	0	0	0	0	1	0	0	0	12309	1029	36	5	3362	5	PPFIA1	11	70221156	Missense_Mutation	SNP	G	TCGA-EJ-A65B-01A-12D-A30E-08	4602537	70221156	64785360	30	6232											
LRRK2	120892	broad.mit.edu	37	chr12	40689228	40689228	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tttgtttgtttttgacaaaaGggtcatcaaaacttcaatcc	12	16	6	7	0	3	1	3	1	0	0	4	1	4	1	1	1	1	2	1	1	5	5			TCGA-EJ-A65B-01A-12D-A30E-08	TCGA-EJ-A65B-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf03c931-271d-477f-ba45-74d7d52ae213	8beb42cb-e084-42a5-89a2-8cf1f0810a67	g.chr12:40689228G>A	ENST00000298910.7	+	23	2936		c.e23-1		LRRK2_ENST00000343742.2_Splice_Site	NM_198578.3	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2						activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|autophagy (GO:0006914)|cellular protein localization (GO:0034613)|cellular response to dopamine (GO:1903351)|cellular response to manganese ion (GO:0071287)|cellular response to oxidative stress (GO:0034599)|determination of adult lifespan (GO:0008340)|endocytosis (GO:0006897)|exploration behavior (GO:0035640)|GTP catabolic process (GO:0006184)|intracellular distribution of mitochondria (GO:0048312)|intracellular signal transduction (GO:0035556)|locomotory exploration behavior (GO:0035641)|MAPK cascade (GO:0000165)|negative regulation of GTPase activity (GO:0034260)|negative regulation of hydrogen peroxide-induced cell death (GO:1903206)|negative regulation of late endosome to lysosome transport (GO:1902823)|negative regulation of peroxidase activity (GO:2000469)|negative regulation of protein binding (GO:0032091)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein processing (GO:0010955)|negative regulation of protein processing involved in protein targeting to mitochondrion (GO:1903217)|negative regulation of protein targeting to mitochondrion (GO:1903215)|negative regulation of thioredoxin peroxidase activity by peptidyl-threonine phosphorylation (GO:1903125)|neuromuscular junction development (GO:0007528)|neuron death (GO:0070997)|neuron projection morphogenesis (GO:0048812)|olfactory bulb development (GO:0021772)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of autophagy (GO:0010508)|positive regulation of dopamine receptor signaling pathway (GO:0060161)|positive regulation of GTPase activity (GO:0043547)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of programmed cell death (GO:0043068)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein autoubiquitination (GO:1902499)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination (GO:0031398)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reactive oxygen species metabolic process (GO:0072593)|regulation of branching morphogenesis of a nerve (GO:2000172)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of dopamine receptor signaling pathway (GO:0060159)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of kidney size (GO:0035564)|regulation of locomotion (GO:0040012)|regulation of membrane potential (GO:0042391)|regulation of mitochondrial depolarization (GO:0051900)|regulation of neuroblast proliferation (GO:1902692)|regulation of neuron death (GO:1901214)|regulation of neuron maturation (GO:0014041)|regulation of protein kinase A signaling (GO:0010738)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of synaptic vesicle exocytosis (GO:2000300)|regulation of synaptic vesicle transport (GO:1902803)|response to oxidative stress (GO:0006979)|small GTPase mediated signal transduction (GO:0007264)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytoplasmic side of mitochondrial outer membrane (GO:0032473)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite (GO:0030425)|dendrite cytoplasm (GO:0032839)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|inclusion body (GO:0016234)|lysosome (GO:0005764)|membrane raft (GO:0045121)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)|terminal bouton (GO:0043195)|trans-Golgi network (GO:0005802)	actin binding (GO:0003779)|ATP binding (GO:0005524)|clathrin binding (GO:0030276)|glycoprotein binding (GO:0001948)|GTP binding (GO:0005525)|GTP-dependent protein kinase activity (GO:0034211)|GTPase activator activity (GO:0005096)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|kinase activity (GO:0016301)|MAP kinase kinase activity (GO:0004708)|peroxidase inhibitor activity (GO:0036479)|protein homodimerization activity (GO:0042803)|protein kinase A binding (GO:0051018)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|Rho GTPase binding (GO:0017048)|SNARE binding (GO:0000149)|syntaxin-1 binding (GO:0017075)|tubulin binding (GO:0015631)			NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				TTTGACAAAAGGGTCATCAAA	0.343																																						ENST00000298910.7																			0				NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181						c.e23-1		leucine-rich repeat kinase 2							47	50	49					12																	40689228		2203	4300	6503	SO:0001630	splice_region_variant	120892				activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding	g.chr12:40689228G>A	AK026776	CCDS31774.1	12q12	2011-07-21			ENSG00000188906	ENSG00000188906		"Parkinson disease"	18618	protein-coding gene	gene with protein product		609007	"Parkinson disease (autosomal dominant) 8"	PARK8		15541308	Standard	NM_198578		Approved	ROCO2, DKFZp434H2111, FLJ45829, RIPK7	uc001rmg.4	Q5S007	OTTHUMG00000059742	ENST00000298910.7:c.2879-1G>A	12.37:g.40689228G>A						LRRK2_ENST00000343742.2_Splice_Site		NM_198578.3	NP_940980.3	Q5S007	LRRK2_HUMAN			23	2936	+	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)						A6NJU2|Q6ZS50|Q8NCX9	Splice_Site	SNP	ENST00000298910.7	37		CCDS31774.1	.	.	.	.	.	.	.	.	.	.	G	16.75	3.209496	0.58343	.	.	ENSG00000188906	ENST00000343742;ENST00000298910	.	.	.	5.71	5.71	0.89125	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.8379	0.96666	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	LRRK2	38975495	1.000000	0.71417	0.983000	0.44433	0.772000	0.43724	3.136000	0.50554	2.695000	0.91970	0.591000	0.81541	.		0.343	LRRK2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277179.1	XM_058513	Intron	11	43	0	0	0	1	0	11	43					A	40689228	G	A	40689228	5	1	118	1	0	0	0	0	0	0	1	0	9033	1014	35	3	2968	3	LRRK2	12	40689228	Splice_Site	SNP	G	TCGA-EJ-A65B-01A-12D-A30E-08		40689228	93162667	31	6233											
CCDC59	29080	broad.mit.edu	37	chr12	82746933	82746933	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctgtaggaacaaaatgtttaAcatttttcttgtattttttg	11	20	6	4	0	1	0	0	0	1	0	1	1	1	1	0	1	2	3	0	1	6	10			TCGA-EJ-A65B-01A-12D-A30E-08	TCGA-EJ-A65B-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf03c931-271d-477f-ba45-74d7d52ae213	8beb42cb-e084-42a5-89a2-8cf1f0810a67	g.chr12:82746933A>G	ENST00000256151.7	-	4	1134	c.723T>C	c.(721-723)tgT>tgC	p.C241C	CCDC59_ENST00000548126.1_5'UTR	NM_014167.4	NP_054886.2	Q9P031	TAP26_HUMAN	coiled-coil domain containing 59	241					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)	5						AAAATGTTTAACATTTTTCTT	0.343																																						ENST00000256151.7																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)	5						c.(721-723)tgT>tgC		coiled-coil domain containing 59							116	113	114					12																	82746933		2203	4300	6503	SO:0001819	synonymous_variant	29080				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	g.chr12:82746933A>G	AF213377	CCDS9023.1	12q21.31	2007-10-17				ENSG00000133773			25005	protein-coding gene	gene with protein product						16630564, 12882447	Standard	NM_014167		Approved	HSPC128, TAP26, BR22	uc001szp.4	Q9P031		ENST00000256151.7:c.723T>C	12.37:g.82746933A>G						CCDC59_ENST00000548126.1_5'UTR	p.C241C	NM_014167.4	NP_054886.2	Q9P031	TAP26_HUMAN			4	1134	-			241					Q9H2V5|Q9NW62	Silent	SNP	ENST00000256151.7	37	c.723T>C	CCDS9023.1																																																																																				0.343	CCDC59-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408186.1	NM_014167		7	51	0	0	0	1	0	7	51					G	82746933	A	G	82746933	2	3	118	1	0	0	0	0	0	0	0	1	2829	41	2	4		4	CCDC59	12	82746933	Silent	SNP	A	TCGA-EJ-A65B-01A-12D-A30E-08	42057705	82746933	51104962	32	6234											
FZD10	11211	broad.mit.edu	37	chr12	130648265	130648265	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cggcccgcttccgctaccccGagcgccccatcatcttcctc	4	8	7	22	5	2	0	1	0	1	0	5	1	4	0	7	1	2	2	7	1	1	3			TCGA-EJ-A65B-01A-12D-A30E-08	TCGA-EJ-A65B-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf03c931-271d-477f-ba45-74d7d52ae213	8beb42cb-e084-42a5-89a2-8cf1f0810a67	g.chr12:130648265G>A	ENST00000229030.4	+	1	1262	c.778G>A	c.(778-780)Gag>Aag	p.E260K	FZD10_ENST00000539839.1_Missense_Mutation_p.R227Q|FZD10-AS1_ENST00000505807.2_RNA			Q9ULW2	FZD10_HUMAN	frizzled class receptor 10	260					brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|cellular response to retinoic acid (GO:0071300)|gonad development (GO:0008406)|negative regulation of Rho GTPase activity (GO:0034259)|neuron differentiation (GO:0030182)|non-canonical Wnt signaling pathway via JNK cascade (GO:0038031)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of Rac GTPase activity (GO:0032855)|regulation of actin cytoskeleton organization (GO:0032956)|vasculature development (GO:0001944)	cell projection (GO:0042995)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|pancreas(1)|prostate(3)|urinary_tract(1)	35	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.3e-06)|Epithelial(86;1.66e-05)|all cancers(50;5.18e-05)		CCGCTACCCCGAGCGCCCCAT	0.662																																						ENST00000539839.1																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|pancreas(1)|prostate(3)|urinary_tract(1)	35						c.(679-681)cGa>cAa		frizzled family receptor 10							111	105	107					12																	130648265		2203	4300	6503	SO:0001583	missense	11211				brain development|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|embryo development|gonad development|negative regulation of Rho GTPase activity|neuron differentiation|non-canonical Wnt receptor signaling pathway|positive regulation of JUN kinase activity|positive regulation of Rac GTPase activity|regulation of actin cytoskeleton organization|vasculature development	cell projection|cell surface|cytoplasm|integral to plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding	g.chr12:130648265G>A	AB027464	CCDS9267.1	12q24.33	2014-01-29	2014-01-29			ENSG00000111432		"GPCR / Class F : Frizzled receptors", "CD molecules"	4039	protein-coding gene	gene with protein product		606147	"frizzled (Drosophila) homolog 10", "frizzled homolog 10 (Drosophila)", "frizzled 10, seven transmembrane spanning receptor", "frizzled family receptor 10"			10448064	Standard	NM_007197		Approved	CD350	uc001uii.3	Q9ULW2		ENST00000229030.4:c.778G>A	12.37:g.130648265G>A	ENSP00000229030:p.Glu260Lys					FZD10_ENST00000229030.4_Missense_Mutation_p.E260K	p.R227Q	NM_007197.3	NP_009128.1	Q9ULW2	FZD10_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;1.3e-06)|Epithelial(86;1.66e-05)|all cancers(50;5.18e-05)	1	1262	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		0						Missense_Mutation	SNP	ENST00000229030.4	37	c.680G>A	CCDS9267.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.84|14.84	2.656693|2.656693	0.47467|0.47467	.|.	.|.	ENSG00000111432|ENSG00000111432	ENST00000229030|ENST00000539839	D|.	0.84516|.	-1.86|.	4.96|4.96	4.07|4.07	0.47477|0.47477	GPCR, family 2-like (1);|.	0.000000|.	0.64402|.	U|.	0.000001|.	D|D	0.84316|0.84316	0.5445|0.5445	M|M	0.93808|0.93808	3.46|3.46	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.91635|.	0.999|.	D|D	0.88054|0.88054	0.2789|0.2789	10|6	0.87932|0.87932	D|D	0|0	.|.	13.4623|13.4623	0.61233|0.61233	0.0768:0.0:0.9232:0.0|0.0768:0.0:0.9232:0.0	.|.	260|.	Q9ULW2|.	FZD10_HUMAN|.	K|Q	260|227	ENSP00000229030:E260K|.	ENSP00000229030:E260K|ENSP00000438460:R227Q	E|R	+|+	1|2	0|0	FZD10|FZD10	129214218|129214218	1.000000|1.000000	0.71417|0.71417	0.960000|0.960000	0.40013|0.40013	0.951000|0.951000	0.60555|0.60555	7.814000|7.814000	0.86154|0.86154	1.071000|1.071000	0.40834|0.40834	0.561000|0.561000	0.74099|0.74099	GAG|CGA		0.662	FZD10-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				12	174	0	0	0	1	0	12	174					A	130648265	G	A	130648265	3	1	118	1	0	0	0	0	1	0	0	0	6129	1059	37	2	780	2	FZD10	12	130648265	Missense_Mutation	SNP	G	TCGA-EJ-A65B-01A-12D-A30E-08	47901332	130648265	3203630	33	6235											
PCDH8	5100	broad.mit.edu	37	chr13	53421430	53421430	+	Frame_Shift_Del	DEL	C	C	-																															ccggcgagctagcgtccgctCccccgagtgcagcggcggcg																										TCGA-EJ-A65B-01A-12D-A30E-08	TCGA-EJ-A65B-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf03c931-271d-477f-ba45-74d7d52ae213	8beb42cb-e084-42a5-89a2-8cf1f0810a67	g.chr13:53421430delC	ENST00000377942.3	-	1	1345	c.1142delG	c.(1141-1143)ggafs	p.G381fs	PCDH8_ENST00000338862.4_Frame_Shift_Del_p.G381fs	NM_002590.3	NP_002581.2	O95206	PCDH8_HUMAN	protocadherin 8	381					cell-cell signaling (GO:0007267)|homophilic cell adhesion (GO:0007156)|morphogenesis of embryonic epithelium (GO:0016331)|somitogenesis (GO:0001756)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cell projection (GO:0042995)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(23)|ovary(1)|skin(1)|urinary_tract(1)	36		Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.19e-08)		AGCGTCCGCTCCCCCGAGTGC	0.766																																					GBM(36;25 841 9273 49207)	ENST00000377942.3																			0				breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(23)|ovary(1)|skin(1)|urinary_tract(1)	36						c.(1141-1143)gafs		protocadherin 8							3	4	3					13																	53421430		1254	2688	3942	SO:0001589	frameshift_variant	5100				cell-cell signaling|homophilic cell adhesion	cell junction|dendrite|integral to plasma membrane|postsynaptic membrane|presynaptic membrane	calcium ion binding	g.chr13:53421430delC	AF061573	CCDS9438.1, CCDS9439.1	13q21.1	2010-02-22			ENSG00000136099	ENSG00000136099		"Cadherins / Protocadherins : Non-clustered"	8660	protein-coding gene	gene with protein product		603580				9787079, 9315676	Standard	NM_002590		Approved	PAPC, ARCADLIN	uc001vhi.3	O95206	OTTHUMG00000016979	ENST00000377942.3:c.1142delG	13.37:g.53421430delC	ENSP00000367177:p.Gly381fs					PCDH8_ENST00000338862.4_Frame_Shift_Del_p.G381fs	p.G381fs	NM_002590.3	NP_002581.2	O95206	PCDH8_HUMAN		GBM - Glioblastoma multiforme(99;2.19e-08)	1	1345	-		Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)	381					B4DMV7|Q5TAN1|Q5TAN2|Q8IYE9|Q96SF1	Frame_Shift_Del	DEL	ENST00000377942.3	37	c.1142delG	CCDS9438.1																																																																																				0.766	PCDH8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045108.2	NM_002590		2	4						2	4	---	---	---	---	-	53421430	C	-	53421430	7	5	118	1	0	1	0	1	0	0	0	0	11517	855	30	0	2082	0	PCDH8	13	53421430	Frame_Shift_Del	DEL	C	TCGA-EJ-A65B-01A-12D-A30E-08		53421430	61748448	34	6236											
LRRC16B	90668	broad.mit.edu	37	chr14	24530760	24530760	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agttatgccctgtggccatgCgggtggccgagggacacaac	8	7	15	11	2	0	0	0	0	0	0	0	2	0	1	3	4	3	1	3	4	2	1			TCGA-EJ-A65B-01A-12D-A30E-08	TCGA-EJ-A65B-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf03c931-271d-477f-ba45-74d7d52ae213	8beb42cb-e084-42a5-89a2-8cf1f0810a67	g.chr14:24530760C>T	ENST00000342740.5	+	27	2513	c.2359C>T	c.(2359-2361)Cgg>Tgg	p.R787W	LRRC16B_ENST00000334420.7_5'UTR	NM_138360.3	NP_612369.3	Q8ND23	LR16B_HUMAN	leucine rich repeat containing 16B	787						cytoplasm (GO:0005737)		p.R787W(3)		breast(3)|central_nervous_system(2)|cervix(3)|endometrium(7)|kidney(1)|large_intestine(9)|liver(1)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	52				GBM - Glioblastoma multiforme(265;0.019)		TGTGGCCATGCGGGTGGCCGA	0.612																																						ENST00000342740.5																			3	Substitution - Missense(3)	p.R787W(3)	prostate(2)|lung(1)	breast(3)|central_nervous_system(2)|cervix(3)|endometrium(7)|kidney(1)|large_intestine(9)|liver(1)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	52						c.(2359-2361)Cgg>Tgg		leucine rich repeat containing 16B							73	63	67					14																	24530760		2203	4300	6503	SO:0001583	missense	90668							g.chr14:24530760C>T	AI017934	CCDS32054.1	14q11.2-q12	2010-09-10	2008-02-12	2008-02-12					20272	protein-coding gene	gene with protein product		614716	"chromosome 14 open reading frame 121"	C14orf121		19846667	Standard	NM_138360		Approved	BC008134, crml-1, CARMIL3	uc001wlj.2	Q8ND23		ENST00000342740.5:c.2359C>T	14.37:g.24530760C>T	ENSP00000340467:p.Arg787Trp					LRRC16B_ENST00000334420.7_5'UTR	p.R787W	NM_138360.3	NP_612369.3	Q8ND23	LR16B_HUMAN		GBM - Glioblastoma multiforme(265;0.019)	27	2513	+			787					Q8TEF7|Q96HS9	Missense_Mutation	SNP	ENST00000342740.5	37	c.2359C>T	CCDS32054.1	.	.	.	.	.	.	.	.	.	.	C	15.85	2.955757	0.53293	.	.	ENSG00000186648	ENST00000342740	T	0.15718	2.4	5.27	3.36	0.38483	.	0.174329	0.40144	N	0.001165	T	0.21962	0.0529	N	0.19112	0.55	0.80722	D	1	D	0.76494	0.999	P	0.62014	0.897	T	0.03166	-1.1065	10	0.87932	D	0	-14.9968	10.8426	0.46724	0.3396:0.6604:0.0:0.0	.	787	Q8ND23	LR16B_HUMAN	W	787	ENSP00000340467:R787W	ENSP00000340467:R787W	R	+	1	2	LRRC16B	23600600	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	0.748000	0.26305	1.430000	0.47334	-0.182000	0.12963	CGG		0.612	LRRC16B-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416527.1	NM_138360		4	45	0	0	0	1	0	4	45					T	24530760	C	T	24530760	3	4	118	1	0	0	0	0	1	0	0	0	8972	759	27	1	2465	1	LRRC16B	14	24530760	Missense_Mutation	SNP	C	TCGA-EJ-A65B-01A-12D-A30E-08		24530760	82818780	35	6237											
MAP1A	4130	broad.mit.edu	37	chr15	43817087	43817087	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcagaaagatgaggtgctcaGatatcctgaccgaagcctct	12	9	10	10	1	3	5	2	2	1	3	4	6	4	5	3	1	2	1	3	1	3	1			TCGA-EJ-A65B-01A-12D-A30E-08	TCGA-EJ-A65B-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf03c931-271d-477f-ba45-74d7d52ae213	8beb42cb-e084-42a5-89a2-8cf1f0810a67	g.chr15:43817087G>C	ENST00000300231.5	+	4	3866	c.3416G>C	c.(3415-3417)aGa>aCa	p.R1139T	MAP1A_ENST00000399453.1_Missense_Mutation_p.R1139T|MAP1A_ENST00000382031.1_Missense_Mutation_p.R1377T			P78559	MAP1A_HUMAN	microtubule-associated protein 1A	1139					microtubule cytoskeleton organization (GO:0000226)|sensory perception of sound (GO:0007605)	cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)	structural molecule activity (GO:0005198)			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	GAGGTGCTCAGATATCCTGAC	0.567																																						ENST00000382031.1																			0				breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66						c.(4129-4131)aGa>aCa		microtubule-associated protein 1A	Estramustine(DB01196)						72	79	77					15																	43817087		2003	4165	6168	SO:0001583	missense	4130					cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity	g.chr15:43817087G>C	U38292	CCDS42031.1	15q15.3	2006-06-15			ENSG00000166963	ENSG00000166963			6835	protein-coding gene	gene with protein product		600178		MAP1L		7806212, 7629894	Standard	XM_005254385		Approved		uc001zrt.3	P78559	OTTHUMG00000059756	ENST00000300231.5:c.3416G>C	15.37:g.43817087G>C	ENSP00000300231:p.Arg1139Thr					MAP1A_ENST00000300231.5_Missense_Mutation_p.R1139T|MAP1A_ENST00000399453.1_Missense_Mutation_p.R1139T	p.R1377T			P78559	MAP1A_HUMAN		GBM - Glioblastoma multiforme(94;3.05e-06)	5	4161	+		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)	1139					O95643|Q12973|Q15882|Q9UJT4	Missense_Mutation	SNP	ENST00000300231.5	37	c.4130G>C	CCDS42031.1	.	.	.	.	.	.	.	.	.	.	G	3.304	-0.142305	0.06669	.	.	ENSG00000166963	ENST00000382031;ENST00000399453;ENST00000300231	T;T;T	0.01438	4.89;4.89;4.89	4.99	-1.52	0.08637	.	1.529200	0.04861	N	0.444054	T	0.00998	0.0033	N	0.14661	0.345	0.09310	N	1	B	0.26195	0.144	B	0.24155	0.051	T	0.48055	-0.9068	10	0.13108	T	0.6	1.9492	4.5103	0.11908	0.4878:0.0:0.3637:0.1485	.	1139	P78559	MAP1A_HUMAN	T	1377;1139;1139	ENSP00000371462:R1377T;ENSP00000382380:R1139T;ENSP00000300231:R1139T	ENSP00000300231:R1139T	R	+	2	0	MAP1A	41604379	0.000000	0.05858	0.000000	0.03702	0.937000	0.57800	0.024000	0.13555	-0.446000	0.07149	-0.302000	0.09304	AGA		0.567	MAP1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000132894.5	NM_002373		12	118	0	0	0	1	0	12	118					C	43817087	G	C	43817087	3	2	118	1	0	0	0	0	1	0	0	0	9227	942	33	5	3418	5	MAP1A	15	43817087	Missense_Mutation	SNP	G	TCGA-EJ-A65B-01A-12D-A30E-08		43817087	58714305	36	6238											
ANXA2	302	broad.mit.edu	37	chr15	60656720	60656720	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacaatggtgacctcatccaCacctatggaaatacaagttg	14	9	8	10	0	1	1	1	1	0	0	2	3	2	2	3	2	1	1	3	2	5	3			TCGA-EJ-A65B-01A-12D-A30E-08	TCGA-EJ-A65B-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf03c931-271d-477f-ba45-74d7d52ae213	8beb42cb-e084-42a5-89a2-8cf1f0810a67	g.chr15:60656720C>T	ENST00000396024.3	-	5	310	c.151G>A	c.(151-153)Gtg>Atg	p.V51M	ANXA2_ENST00000557937.1_5'UTR|ANXA2_ENST00000451270.2_Missense_Mutation_p.V51M|ANXA2_ENST00000421017.2_Missense_Mutation_p.V51M|ANXA2_ENST00000332680.4_Missense_Mutation_p.V69M	NM_001136015.2	NP_001129487.1	P07355	ANXA2_HUMAN	annexin A2	51					angiogenesis (GO:0001525)|body fluid secretion (GO:0007589)|cellular response to acid chemical (GO:0071229)|collagen fibril organization (GO:0030199)|fibrinolysis (GO:0042730)|membrane budding (GO:0006900)|membrane raft assembly (GO:0001765)|negative regulation of catalytic activity (GO:0043086)|osteoclast development (GO:0036035)|positive regulation of binding (GO:0051099)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of vesicle fusion (GO:0031340)|protein heterotetramerization (GO:0051290)|protein targeting to plasma membrane (GO:0072661)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell surface (GO:0009986)|early endosome (GO:0005769)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of plasma membrane (GO:0019897)|late endosome membrane (GO:0031902)|lipid particle (GO:0005811)|lysosomal membrane (GO:0005765)|macropinosome (GO:0044354)|membrane (GO:0016020)|midbody (GO:0030496)|myelin sheath adaxonal region (GO:0035749)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ruffle (GO:0001726)|sarcolemma (GO:0042383)|Schmidt-Lanterman incisure (GO:0043220)|vesicle (GO:0031982)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|calcium-dependent protein binding (GO:0048306)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phospholipase A2 inhibitor activity (GO:0019834)|poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)			kidney(1)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)	9					Tenecteplase(DB00031)	ACCTCATCCACACCTATGGAA	0.408																																						ENST00000396024.3																			0				kidney(1)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)	9						c.(151-153)Gtg>Atg		annexin A2	Alteplase(DB00009)|Anistreplase(DB00029)|Tenecteplase(DB00031)						135	105	115					15																	60656720		2203	4300	6503	SO:0001583	missense	302				angiogenesis|positive regulation of vesicle fusion|skeletal system development	basement membrane|melanosome|midbody|soluble fraction	calcium ion binding|calcium-dependent phospholipid binding|cytoskeletal protein binding|phospholipase inhibitor activity	g.chr15:60656720C>T	D00017	CCDS10175.1, CCDS32256.1	15q22.2	2012-10-02			ENSG00000182718	ENSG00000182718		"Annexins"	537	protein-coding gene	gene with protein product	"annexin II"	151740		ANX2, ANX2L4, CAL1H, LPC2D		7961821	Standard	NM_001136015		Approved	LIP2	uc002agm.3	P07355	OTTHUMG00000132763	ENST00000396024.3:c.151G>A	15.37:g.60656720C>T	ENSP00000379342:p.Val51Met					ANXA2_ENST00000332680.4_Missense_Mutation_p.V69M|ANXA2_ENST00000451270.2_Missense_Mutation_p.V51M|ANXA2_ENST00000557937.1_5'UTR|ANXA2_ENST00000421017.2_Missense_Mutation_p.V51M	p.V51M	NM_001136015.2	NP_001129487.1	P07355	ANXA2_HUMAN			5	310	-			51					Q567R4|Q6N0B3|Q8TBV2|Q96DD5|Q9UDH8	Missense_Mutation	SNP	ENST00000396024.3	37	c.151G>A	CCDS10175.1	.	.	.	.	.	.	.	.	.	.	C	23.9	4.468213	0.84533	.	.	ENSG00000182718	ENST00000396024;ENST00000332680;ENST00000421017;ENST00000451270	T;T;T;T	0.03524	3.9;3.9;3.9;3.9	5.92	5.92	0.95590	Annexin repeat, conserved site (1);	0.149951	0.42548	U	0.000697	T	0.22975	0.0555	M	0.85777	2.775	0.54753	D	0.999989	D;P;P	0.76494	0.999;0.912;0.943	D;B;P	0.75020	0.985;0.404;0.666	T	0.00149	-1.1988	10	0.87932	D	0	.	19.0853	0.93201	0.0:1.0:0.0:0.0	.	51;69;51	B4DNH8;P07355-2;P07355	.;.;ANXA2_HUMAN	M	51;69;51;51	ENSP00000379342:V51M;ENSP00000346032:V69M;ENSP00000411352:V51M;ENSP00000387545:V51M	ENSP00000346032:V69M	V	-	1	0	ANXA2	58444012	1.000000	0.71417	1.000000	0.80357	0.930000	0.56654	5.194000	0.65125	2.814000	0.96858	0.585000	0.79938	GTG		0.408	ANXA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256135.1	NM_001002857		6	54	0	0	0	1	0	6	54					T	60656720	C	T	60656720	3	4	118	1	0	0	0	0	1	0	0	0	718	478	17	3	908	3	ANXA2	15	60656720	Missense_Mutation	SNP	C	TCGA-EJ-A65B-01A-12D-A30E-08	16839633	60656720	41874672	37	6239											
ABCC6	368	broad.mit.edu	37	chr16	16256866	16256866	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctacctgtcagccaccagtcGcgggaaactgatcctctggc	8	8	10	15	2	2	1	1	1	1	0	4	2	3	2	4	2	3	0	4	2	2	1	rs72653744	byFrequency	TCGA-EJ-A65B-01A-12D-A30E-08	TCGA-EJ-A65B-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf03c931-271d-477f-ba45-74d7d52ae213	8beb42cb-e084-42a5-89a2-8cf1f0810a67	g.chr16:16256866G>A	ENST00000205557.7	-	24	3519	c.3490C>T	c.(3490-3492)Cga>Tga	p.R1164*		NM_001171.5	NP_001162	O95255	MRP6_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 6	1164	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.		R -> Q (in PXE; autosomal recessive; dbSNP:rs63750457). {ECO:0000269|PubMed:16086317, ECO:0000269|PubMed:17617515}.		response to drug (GO:0042493)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)	p.R1164*(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|skin(6)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (3;0.123)	Cisplatin(DB00515)|Dactinomycin(DB00970)|Daunorubicin(DB00694)|Doxorubicin(DB00997)|Etoposide(DB00773)|Indomethacin(DB00328)|Probenecid(DB01032)|Sulfinpyrazone(DB01138)|Teniposide(DB00444)|Vinblastine(DB00570)	GCCACCAGTCGCGGGAAACTG	0.547																																						ENST00000205557.7																			1	Substitution - Nonsense(1)	p.R1164*(1)	kidney(1)	NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|skin(6)|urinary_tract(1)	43	GRCh37	CM001603	ABCC6	M	rs72653744	c.(3490-3492)Cga>Tga		ATP-binding cassette, sub-family C (CFTR/MRP), member 6		G	stop/ARG	0,4394		0,0,2197	133	141	138	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	3490	2	1	16	dbSNP_130	138	1,8599	1.2+/-3.3	0,1,4299	yes	stop-gained	ABCC6	NM_001171.5		0,1,6496	AA,AG,GG		0.0116,0.0,0.0077		1164/1504	16256866	1,12993	2197	4300	6497	SO:0001587	stop_gained	368				response to drug|visual perception	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr16:16256866G>A	AF076622	CCDS10568.1, CCDS58430.1	16p13.11	2013-01-08			ENSG00000091262	ENSG00000091262		"ATP binding cassette transporters / subfamily C"	57	protein-coding gene	gene with protein product		603234	"pseudoxanthoma elasticum"	ARA, PXE		9721217, 11439001	Standard	NM_001079528		Approved	MRP6, EST349056, MLP1, URG7	uc002den.4	O95255	OTTHUMG00000129967	ENST00000205557.7:c.3490C>T	16.37:g.16256866G>A	ENSP00000205557:p.Arg1164*						p.R1164*	NM_001171.5	NP_001162.4	O95255	MRP6_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (3;0.123)	24	3519	-			1164			ABC transmembrane type-1 2.		A2RRN8|A8KIG6|A8Y988|E7ESW8|P78420|Q8TCY8|Q9UMZ7	Nonsense_Mutation	SNP	ENST00000205557.7	37	c.3490C>T	CCDS10568.1	.	.	.	.	.	.	.	.	.	.	G	41	8.961498	0.99018	0.0	1.16E-4	ENSG00000091262	ENST00000205557	.	.	.	5.42	2.01	0.26516	.	0.469690	0.16852	U	0.196891	.	.	.	.	.	.	0.48696	D	0.999693	.	.	.	.	.	.	.	.	.	.	0.09084	T	0.74	.	8.2199	0.31534	0.0:0.1644:0.2838:0.5518	.	.	.	.	X	1164	.	ENSP00000205557:R1164X	R	-	1	2	ABCC6	16164367	0.112000	0.22096	0.970000	0.41538	0.860000	0.49131	0.765000	0.26546	0.592000	0.29728	0.655000	0.94253	CGA		0.547	ABCC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252232.2			33	239	0	0	0	1	0	33	239					A	16256866	G	A	16256866	4	1	118	1	0	0	0	0	0	1	0	0	57	1095	38	1	1053	1	ABCC6	16	16256866	Nonsense_Mutation	SNP	G	TCGA-EJ-A65B-01A-12D-A30E-08		16256866	74097887	38	6240											
BCAR1	9564	broad.mit.edu	37	chr16	75271144	75271144	+	Frame_Shift_Del	DEL	C	C	-																															acatcatagatgtcctgtggCcccggggccagcaggtgtcg																										TCGA-EJ-A65B-01A-12D-A30E-08	TCGA-EJ-A65B-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf03c931-271d-477f-ba45-74d7d52ae213	8beb42cb-e084-42a5-89a2-8cf1f0810a67	g.chr16:75271144delC	ENST00000162330.5	-	3	858	c.732delG	c.(730-732)gggfs	p.G244fs	BCAR1_ENST00000546196.1_Frame_Shift_Del_p.G215fs|BCAR1_ENST00000393420.6_Frame_Shift_Del_p.G244fs|BCAR1_ENST00000538440.2_Frame_Shift_Del_p.G244fs|BCAR1_ENST00000418647.3_Frame_Shift_Del_p.G290fs|BCAR1_ENST00000542031.2_Frame_Shift_Del_p.G242fs|BCAR1_ENST00000566982.1_5'UTR|BCAR1_ENST00000393422.2_Frame_Shift_Del_p.G262fs|BCAR1_ENST00000535626.2_Frame_Shift_Del_p.G96fs|BCAR1_ENST00000420641.3_Frame_Shift_Del_p.G262fs	NM_001170717.1|NM_014567.3	NP_001164188.1|NP_055382.2	P56945	BCAR1_HUMAN	breast cancer anti-estrogen resistance 1	244	Substrate for kinases. {ECO:0000250}.				actin filament organization (GO:0007015)|antigen receptor-mediated signaling pathway (GO:0050851)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell division (GO:0051301)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cellular response to hepatocyte growth factor stimulus (GO:0035729)|epidermal growth factor receptor signaling pathway (GO:0007173)|G-protein coupled receptor signaling pathway (GO:0007186)|hepatocyte growth factor receptor signaling pathway (GO:0048012)|insulin receptor signaling pathway (GO:0008286)|integrin-mediated signaling pathway (GO:0007229)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of cell migration (GO:0030335)|positive regulation of endothelial cell migration (GO:0010595)|regulation of apoptotic process (GO:0042981)|regulation of cell growth (GO:0001558)|T cell receptor signaling pathway (GO:0050852)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)			breast(2)|central_nervous_system(5)|endometrium(1)|kidney(6)|large_intestine(1)|liver(1)|lung(13)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)	35				BRCA - Breast invasive adenocarcinoma(221;0.169)		TGTCCTGTGGCCCCGGGGCCA	0.697																																						ENST00000546196.1																			0				breast(2)|central_nervous_system(5)|endometrium(1)|kidney(6)|large_intestine(1)|liver(1)|lung(13)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)	35						c.(643-645)ggfs		breast cancer anti-estrogen resistance 1							18	20	19					16																	75271144		2168	4262	6430	SO:0001589	frameshift_variant	9564				actin filament organization|B cell receptor signaling pathway|blood coagulation|cell adhesion|cell division|cell migration|cell proliferation|epidermal growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|integrin-mediated signaling pathway|nerve growth factor receptor signaling pathway|platelet-derived growth factor receptor signaling pathway|positive regulation of cell migration|regulation of apoptosis|regulation of cell growth|T cell receptor signaling pathway	cytosol|focal adhesion|membrane fraction|ruffle	protein kinase binding|protein phosphatase binding|SH3 domain binding|signal transducer activity	g.chr16:75271144delC	AJ242987	CCDS10915.1, CCDS54037.1, CCDS54038.1, CCDS54039.1, CCDS54040.1, CCDS54041.1, CCDS54042.1, CCDS54043.1	16q22-q23	2011-04-13			ENSG00000050820	ENSG00000050820		"Cas scaffolding proteins"	971	protein-coding gene	gene with protein product	"Crk-associated substrate", "Cas scaffolding protein family member 1"	602941				8413311, 10639512	Standard	NM_001170714		Approved	P130Cas, Crkas, CAS, CASS1	uc010vnb.2	P56945	OTTHUMG00000137604	ENST00000162330.5:c.732delG	16.37:g.75271144delC	ENSP00000162330:p.Gly244fs					BCAR1_ENST00000566982.1_5'UTR|BCAR1_ENST00000420641.3_Frame_Shift_Del_p.G262fs|BCAR1_ENST00000542031.2_Frame_Shift_Del_p.G242fs|BCAR1_ENST00000535626.2_Frame_Shift_Del_p.G96fs|BCAR1_ENST00000538440.2_Frame_Shift_Del_p.G244fs|BCAR1_ENST00000418647.3_Frame_Shift_Del_p.G290fs|BCAR1_ENST00000393422.2_Frame_Shift_Del_p.G262fs|BCAR1_ENST00000162330.5_Frame_Shift_Del_p.G244fs|BCAR1_ENST00000393420.6_Frame_Shift_Del_p.G244fs	p.G215fs			P56945	BCAR1_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.169)	3	2297	-			244			Substrate for kinases (By similarity).		B3KWD7|B4DEV4|B4DGB5|B4DIW5|B7Z7X7|E9PCL5|E9PCV2|F5GXA2|F5GXV6|F5H7Z0|F8WA69|Q6QEF7	Frame_Shift_Del	DEL	ENST00000162330.5	37	c.645delG	CCDS10915.1																																																																																				0.697	BCAR1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000269017.1	NM_014567		2	4						2	4	---	---	---	---	-	75271144	C	-	75271144	7	5	118	1	0	1	0	1	0	0	0	0	1348	726	26	0	1954	0	BCAR1	16	75271144	Frame_Shift_Del	DEL	C	TCGA-EJ-A65B-01A-12D-A30E-08	59014278	75271144	15083609	39	6241											
SLC4A1	6521	broad.mit.edu	37	chr17	42335164	42335164	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgacactcccatctggttccGggtcttttctcctgtgggta	4	14	10	13	2	3	0	0	0	3	0	6	1	5	0	3	3	0	2	3	3	1	4	rs373768879		TCGA-EJ-A65B-01A-12D-A30E-08	TCGA-EJ-A65B-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf03c931-271d-477f-ba45-74d7d52ae213	8beb42cb-e084-42a5-89a2-8cf1f0810a67	g.chr17:42335164G>A	ENST00000262418.6	-	12	1449	c.1294C>T	c.(1294-1296)Cgg>Tgg	p.R432W	AC003043.1_ENST00000597382.1_5'Flank|SLC4A1_ENST00000471005.1_5'Flank	NM_000342.3	NP_000333.1	P02730	B3AT_HUMAN	solute carrier family 4 (anion exchanger), member 1 (Diego blood group)	432	Membrane (anion exchange).		R -> W (in ELO antigen).		anion transport (GO:0006820)|bicarbonate transport (GO:0015701)|cellular ion homeostasis (GO:0006873)|chloride transport (GO:0006821)|ion transport (GO:0006811)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|blood microparticle (GO:0072562)|cortical cytoskeleton (GO:0030863)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|Z disc (GO:0030018)	anion transmembrane transporter activity (GO:0008509)|anion:anion antiporter activity (GO:0015301)|ankyrin binding (GO:0030506)|bicarbonate transmembrane transporter activity (GO:0015106)|chloride transmembrane transporter activity (GO:0015108)|inorganic anion exchanger activity (GO:0005452)|protein anchor (GO:0043495)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	40		Breast(137;0.014)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.115)		ATCTGGTTCCGGGTCTTTTCT	0.587																																						ENST00000262418.6																			0				central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	40	GRCh37	CM983769	SLC4A1	M		c.(1294-1296)Cgg>Tgg		solute carrier family 4 (anion exchanger), member 1		G	TRP/ARG	0,4406		0,0,2203	76	70	72		1294	-11.1	0	17		72	1,8599	1.2+/-3.3	0,1,4299	no	missense	SLC4A1	NM_000342.3	101	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	432/912	42335164	1,13005	2203	4300	6503	SO:0001583	missense	6521				bicarbonate transport|cellular ion homeostasis	basolateral plasma membrane|cortical cytoskeleton|integral to plasma membrane|Z disc	ankyrin binding|chloride transmembrane transporter activity|inorganic anion exchanger activity|protein anchor|protein homodimerization activity	g.chr17:42335164G>A		CCDS11481.1	17q21.31	2014-07-19	2014-01-02		ENSG00000004939	ENSG00000004939		"CD molecules", "Blood group antigens", "Solute carriers"	11027	protein-coding gene	gene with protein product	"Froese blood group", "Swann blood group", "Wright blood group"	109270	"Waldner blood group", "erythrocyte membrane protein band 3", "Diego blood group", "solute carrier family 4, anion exchanger, member 1 (erythrocyte membrane protein band 3, Diego blood group)", "solute carrier family 4 (anion exchanger), member 1"	EPB3, AE1, DI, WD		8434259	Standard	NM_000342		Approved	RTA1A, CD233, FR, SW, WR	uc002igf.4	P02730	OTTHUMG00000156843	ENST00000262418.6:c.1294C>T	17.37:g.42335164G>A	ENSP00000262418:p.Arg432Trp						p.R432W	NM_000342.3	NP_000333.1	P02730	B3AT_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.115)	12	1449	-		Breast(137;0.014)|Prostate(33;0.0181)	432		R -> W (in ELO antigen).	Membrane (anion exchange).		G4V2I6|P78487|Q1ZZ45|Q4KKW9|Q4VB84|Q9UCY7|Q9UDJ1	Missense_Mutation	SNP	ENST00000262418.6	37	c.1294C>T	CCDS11481.1	.	.	.	.	.	.	.	.	.	.	g	9.617	1.132909	0.21041	0.0	1.16E-4	ENSG00000004939	ENST00000262418	T	0.79554	-1.28	5.57	-11.1	0.00147	Bicarbonate transporter, C-terminal (1);	1.964930	0.02322	N	0.073075	T	0.78616	0.4311	L	0.48642	1.525	0.09310	N	1	D;P	0.57571	0.98;0.903	P;P	0.56088	0.571;0.791	T	0.80233	-0.1467	10	0.87932	D	0	.	5.1981	0.15249	0.1499:0.4325:0.2322:0.1855	.	432;432	E2RVJ0;P02730	.;B3AT_HUMAN	W	432	ENSP00000262418:R432W	ENSP00000262418:R432W	R	-	1	2	SLC4A1	39690690	0.000000	0.05858	0.000000	0.03702	0.267000	0.26476	-2.027000	0.01433	-3.368000	0.00177	-2.455000	0.00206	CGG		0.587	SLC4A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346194.1	NM_000342		8	83	0	0	0	1	0	8	83					A	42335164	G	A	42335164	3	1	118	1	0	0	0	0	1	0	0	0	14650	1115	39	2	1477	2	SLC4A1	17	42335164	Missense_Mutation	SNP	G	TCGA-EJ-A65B-01A-12D-A30E-08		42335164	38860046	40	6242											
RNF213	57674	broad.mit.edu	37	chr17	78314067	78314067	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agcctacctggcaggtcactAccgggtcccgaagcagaccc	9	5	11	16	2	1	1	1	0	0	1	2	2	2	1	5	3	4	2	5	3	3	2			TCGA-EJ-A65B-01A-12D-A30E-08	TCGA-EJ-A65B-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf03c931-271d-477f-ba45-74d7d52ae213	8beb42cb-e084-42a5-89a2-8cf1f0810a67	g.chr17:78314067A>G	ENST00000582970.1	+	26	6043	c.5900A>G	c.(5899-5901)tAc>tGc	p.Y1967C	RNF213_ENST00000336301.6_Missense_Mutation_p.Y40C|RNF213_ENST00000508628.2_Missense_Mutation_p.Y2016C	NM_001256071.1	NP_001243000.1	Q63HN8	RN213_HUMAN	ring finger protein 213	1967					ATP catabolic process (GO:0006200)|protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATPase activity (GO:0016887)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			GCAGGTCACTACCGGGTCCCG	0.642																																						ENST00000582970.1																			0				NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130						c.(5899-5901)tAc>tGc		ring finger protein 213							58	45	49					17																	78314067		2203	4300	6503	SO:0001583	missense	57674							g.chr17:78314067A>G	AK074030	CCDS58606.1	17q25.3	2013-01-09	2007-02-08	2007-02-08		ENSG00000173821		"RING-type (C3HC4) zinc fingers"	14539	protein-coding gene	gene with protein product		613768	"chromosome 17 open reading frame 27", "KIAA1618", "moyamoya disease 2", "Moyamoya disease 2"	C17orf27, KIAA1618, MYMY2		10997877, 21048783, 21799892	Standard	NM_020954		Approved	KIAA1554, NET57	uc021uen.2	Q63HN8		ENST00000582970.1:c.5900A>G	17.37:g.78314067A>G	ENSP00000464087:p.Tyr1967Cys					RNF213_ENST00000336301.6_Missense_Mutation_p.Y40C|RNF213_ENST00000508628.2_Missense_Mutation_p.Y2016C	p.Y1967C	NM_001256071.1	NP_001243000.1	Q9HCF4	ALO17_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)		26	6043	+	all_neural(118;0.0538)		0					C9JCP4|D6RI12|F8WKS1|Q658P6|Q69YK7|Q6MZR1|Q8IWF4|Q8IZX1|Q8IZX2|Q8N406|Q8TEU0|Q9H6C9|Q9H6H9|Q9H6P3|Q9H8A9|Q9HCF4|Q9HCL8	Missense_Mutation	SNP	ENST00000582970.1	37	c.5900A>G	CCDS58606.1	.	.	.	.	.	.	.	.	.	.	A	2.985	-0.209551	0.06140	.	.	ENSG00000173821	ENST00000508628;ENST00000411702;ENST00000336301	T	0.27890	1.64	5.14	-4.14	0.03892	.	0.427258	0.23440	N	0.048156	T	0.37972	0.1023	L	0.54323	1.7	0.19300	N	0.999975	D	0.65815	0.995	P	0.55785	0.784	T	0.47005	-0.9150	10	0.87932	D	0	.	14.1118	0.65126	0.4507:0.0:0.0:0.5493	.	40	Q63HN8	RN213_HUMAN	C	1967;2016;40	ENSP00000338218:Y40C	ENSP00000338218:Y40C	Y	+	2	0	RNF213	75928662	0.379000	0.25123	0.021000	0.16686	0.098000	0.18820	0.636000	0.24644	-0.554000	0.06150	0.528000	0.53228	TAC		0.642	RNF213-020	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000443298.1	NM_020914		4	60	0	0	0	1	0	4	60					G	78314067	A	G	78314067	3	3	118	1	0	0	0	0	1	0	0	0	13477	391	14	4	6317	4	RNF213	17	78314067	Missense_Mutation	SNP	A	TCGA-EJ-A65B-01A-12D-A30E-08	35978903	78314067	2881143	41	6243											
ZNF99	7652	broad.mit.edu	37	chr19	22941275	22941275	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	attcttcacatttgtagggtTtctctccagtatgaattatc	9	18	6	8	0	3	1	1	1	2	0	6	1	4	1	1	1	0	3	1	1	4	7			TCGA-EJ-A65B-01A-12D-A30E-08	TCGA-EJ-A65B-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf03c931-271d-477f-ba45-74d7d52ae213	8beb42cb-e084-42a5-89a2-8cf1f0810a67	g.chr19:22941275T>C	ENST00000596209.1	-	4	1526	c.1436A>G	c.(1435-1437)aAa>aGa	p.K479R	ZNF99_ENST00000397104.3_Missense_Mutation_p.K388R	NM_001080409.2	NP_001073878.2	A8MXY4	ZNF99_HUMAN	zinc finger protein 99	479					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				TTTGTAGGGTTTCTCTCCAGT	0.353																																						ENST00000397104.3																			0				NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124						c.(1162-1164)aAa>aGa		zinc finger protein 99							51	53	52					19																	22941275		2002	4207	6209	SO:0001583	missense	7652							g.chr19:22941275T>C	BC021822	CCDS59369.1	19p12	2013-01-08	2006-01-17		ENSG00000213973	ENSG00000213973		"Zinc fingers, C2H2-type", "-"	13175	protein-coding gene	gene with protein product		603981	"zinc finger protein 99 (F8281)", "chromosome 19 open reading frame 9"	C19orf9			Standard	NM_001080409		Approved	MGC24986	uc021urt.1	A8MXY4		ENST00000596209.1:c.1436A>G	19.37:g.22941275T>C	ENSP00000472969:p.Lys479Arg					ZNF99_ENST00000596209.1_Missense_Mutation_p.K479R	p.K388R							5	1162	-		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)						M0R335	Missense_Mutation	SNP	ENST00000596209.1	37	c.1163A>G	CCDS59369.1	.	.	.	.	.	.	.	.	.	.	t	15.87	2.960579	0.53400	.	.	ENSG00000213973	ENST00000397104	T	0.24908	1.83	1.28	-1.66	0.08265	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.26484	0.0647	N	0.17379	0.485	0.19300	N	0.999973	P	0.44627	0.839	P	0.59948	0.866	T	0.28427	-1.0044	9	0.54805	T	0.06	.	6.8579	0.24050	0.0:0.0:0.3525:0.6475	.	388	A8MXY4	ZNF99_HUMAN	R	388	ENSP00000380293:K388R	ENSP00000380293:K388R	K	-	2	0	ZNF99	22733115	0.000000	0.05858	0.187000	0.23214	0.567000	0.35839	-0.262000	0.08682	-0.299000	0.08909	0.325000	0.21440	AAA		0.353	ZNF99-001	NOVEL	not_best_in_genome_evidence|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000464591.1	XM_065124		5	35	0	0	0	1	0	5	35					C	22941275	T	C	22941275	3	2	118	1	0	0	0	0	1	0	0	0	18201	1841	64	4	1961	4	ZNF99	19	22941275	Missense_Mutation	SNP	T	TCGA-EJ-A65B-01A-12D-A30E-08		22941275	36187708	42	6244											
SIRT2	22933	broad.mit.edu	37	chr19	39379731	39379731	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctcgcatccgcctacctgcGtgtagcagcgcaggagtagc	7	7	13	14	4	0	0	0	0	0	0	2	1	1	1	3	1	5	6	3	1	3	3			TCGA-EJ-A65B-01A-12D-A30E-08	TCGA-EJ-A65B-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf03c931-271d-477f-ba45-74d7d52ae213	8beb42cb-e084-42a5-89a2-8cf1f0810a67	g.chr19:39379731G>A	ENST00000249396.7	-	8	798	c.497C>T	c.(496-498)aCg>aTg	p.T166M	SIRT2_ENST00000358931.5_Missense_Mutation_p.T166M|SIRT2_ENST00000392081.2_Missense_Mutation_p.T129M	NM_012237.3	NP_036369.2	Q8IXJ6	SIR2_HUMAN	sirtuin 2	166	Deacetylase sirtuin-type. {ECO:0000255|PROSITE-ProRule:PRU00236}.				autophagy (GO:0006914)|cellular lipid catabolic process (GO:0044242)|cellular response to caloric restriction (GO:0061433)|cellular response to epinephrine stimulus (GO:0071872)|cellular response to hepatocyte growth factor stimulus (GO:0035729)|cellular response to hypoxia (GO:0071456)|cellular response to molecule of bacterial origin (GO:0071219)|cellular response to oxidative stress (GO:0034599)|chromatin silencing (GO:0006342)|chromatin silencing at rDNA (GO:0000183)|chromatin silencing at telomere (GO:0006348)|gene silencing (GO:0016458)|hepatocyte growth factor receptor signaling pathway (GO:0048012)|histone deacetylation (GO:0016575)|histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|innate immune response (GO:0045087)|meiotic nuclear division (GO:0007126)|mitotic nuclear division (GO:0007067)|myelination in peripheral nervous system (GO:0022011)|negative regulation of autophagy (GO:0010507)|negative regulation of cell proliferation (GO:0008285)|negative regulation of defense response to bacterium (GO:1900425)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of oligodendrocyte progenitor proliferation (GO:0070446)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of striated muscle tissue development (GO:0045843)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061428)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-lysine deacetylation (GO:0034983)|phosphatidylinositol 3-kinase signaling (GO:0014065)|positive regulation of attachment of spindle microtubules to kinetochore (GO:0051987)|positive regulation of cell division (GO:0051781)|positive regulation of DNA binding (GO:0043388)|positive regulation of execution phase of apoptosis (GO:1900119)|positive regulation of meiosis (GO:0045836)|positive regulation of oocyte maturation (GO:1900195)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process involved in cellular response to hypoxia (GO:2000777)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ADP-ribosylation (GO:0006471)|protein deacetylation (GO:0006476)|protein kinase B signaling (GO:0043491)|regulation of cell cycle (GO:0051726)|regulation of exit from mitosis (GO:0007096)|regulation of myelination (GO:0031641)|regulation of phosphorylation (GO:0042325)|response to redox state (GO:0051775)|ripoptosome assembly involved in necroptotic process (GO:1901026)|substantia nigra development (GO:0021762)|transcription, DNA-templated (GO:0006351)|tubulin deacetylation (GO:0090042)	centriole (GO:0005814)|centrosome (GO:0005813)|chromatin silencing complex (GO:0005677)|chromosome (GO:0005694)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|glial cell projection (GO:0097386)|juxtaparanode region of axon (GO:0044224)|lateral loop (GO:0043219)|meiotic spindle (GO:0072687)|microtubule (GO:0005874)|midbody (GO:0030496)|mitotic spindle (GO:0072686)|myelin sheath (GO:0043209)|nuclear heterochromatin (GO:0005720)|nucleus (GO:0005634)|paranodal junction (GO:0033010)|paranode region of axon (GO:0033270)|perikaryon (GO:0043204)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|Schmidt-Lanterman incisure (GO:0043220)|spindle (GO:0005819)	chromatin binding (GO:0003682)|histone acetyltransferase binding (GO:0035035)|histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|NAD+ binding (GO:0070403)|NAD-dependent histone deacetylase activity (GO:0017136)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|NAD-dependent protein deacetylase activity (GO:0034979)|protein deacetylase activity (GO:0033558)|transcription factor binding (GO:0008134)|tubulin deacetylase activity (GO:0042903)|ubiquitin binding (GO:0043130)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(2)|lung(5)|skin(1)	9	all_cancers(60;6.83e-06)|Ovarian(47;0.0454)		Lung(45;0.00125)|LUSC - Lung squamous cell carcinoma(53;0.00191)			GCCTACCTGCGTGTAGCAGCG	0.622																																						ENST00000249396.7																			0				endometrium(1)|large_intestine(2)|lung(5)|skin(1)	9						c.(496-498)aCg>aTg		sirtuin 2							89	69	76					19																	39379731		2203	4300	6503	SO:0001583	missense	22933				cell division|chromatin silencing at rDNA|chromatin silencing at telomere|mitosis|negative regulation of striated muscle tissue development|protein ADP-ribosylation|regulation of exit from mitosis|regulation of phosphorylation|response to redox state	chromatin silencing complex|cytoplasm|microtubule	histone acetyltransferase binding|histone deacetylase binding|NAD+ binding|NAD-dependent histone deacetylase activity|transcription factor binding|tubulin deacetylase activity|ubiquitin binding|zinc ion binding	g.chr19:39379731G>A	AF083107	CCDS12523.1, CCDS46069.1, CCDS74361.1	19q13	2010-06-25	2010-06-25		ENSG00000068903	ENSG00000068903			10886	protein-coding gene	gene with protein product		604480	"sirtuin (silent mating type information regulation 2, S.cerevisiae, homolog) 2", "sirtuin (silent mating type information regulation 2 homolog) 2 (S. cerevisiae)"	SIR2L		10393250, 10381378	Standard	NM_012237		Approved		uc002ojt.2	Q8IXJ6	OTTHUMG00000150480	ENST00000249396.7:c.497C>T	19.37:g.39379731G>A	ENSP00000249396:p.Thr166Met					SIRT2_ENST00000392081.2_Missense_Mutation_p.T129M|SIRT2_ENST00000358931.5_Missense_Mutation_p.T166M	p.T166M	NM_012237.3	NP_036369.2	Q8IXJ6	SIRT2_HUMAN	Lung(45;0.00125)|LUSC - Lung squamous cell carcinoma(53;0.00191)		8	798	-	all_cancers(60;6.83e-06)|Ovarian(47;0.0454)		166			Deacetylase sirtuin-type.		A8K3V1|B2RB45|O95889|Q924Y7|Q9P0G8|Q9UNT0|Q9Y6E9|U5TP13	Missense_Mutation	SNP	ENST00000249396.7	37	c.497C>T	CCDS12523.1	.	.	.	.	.	.	.	.	.	.	G	24.0	4.480251	0.84747	.	.	ENSG00000068903	ENST00000249396;ENST00000392081;ENST00000358931;ENST00000456703;ENST00000414941;ENST00000407552;ENST00000381766	T;T;T;T;T;T	0.57107	0.42;0.42;0.42;0.42;0.42;0.42	5.01	5.01	0.66863	.	0.125331	0.53938	D	0.000042	D	0.84437	0.5472	H	0.99464	4.58	0.49582	D	0.999803	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.976;0.997;1.0;0.99	D	0.90863	0.4740	10	0.87932	D	0	-1.6343	15.4087	0.74900	0.0:0.0:1.0:0.0	.	166;129;166;146	Q8IXJ6-4;Q8IXJ6-2;Q8IXJ6;Q8IXJ6-3	.;.;SIRT2_HUMAN;.	M	166;129;166;151;129;129;129	ENSP00000249396:T166M;ENSP00000375931:T129M;ENSP00000351809:T166M;ENSP00000404309:T129M;ENSP00000385146:T129M;ENSP00000401203:T129M	ENSP00000249396:T166M	T	-	2	0	SIRT2	44071571	1.000000	0.71417	1.000000	0.80357	0.787000	0.44495	8.411000	0.90229	2.630000	0.89119	0.555000	0.69702	ACG		0.622	SIRT2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318278.1			6	108	0	0	0	1	0	6	108					A	39379731	G	A	39379731	3	1	118	1	0	0	0	0	1	0	0	0	14338	1145	40	1	708	1	SIRT2	19	39379731	Missense_Mutation	SNP	G	TCGA-EJ-A65B-01A-12D-A30E-08	16438456	39379731	19749252	43	6245											
VN1R1	57191	broad.mit.edu	37	chr19	57966837	57966837	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaagagtgttttccttgtccTgcaggcaaaacagaactgag	13	10	10	8	0	0	3	0	1	0	2	2	3	2	3	2	1	3	3	2	1	4	3			TCGA-EJ-A65B-01A-12D-A30E-08	TCGA-EJ-A65B-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf03c931-271d-477f-ba45-74d7d52ae213	8beb42cb-e084-42a5-89a2-8cf1f0810a67	g.chr19:57966837T>C	ENST00000321039.3	-	1	1017	c.1018A>G	c.(1018-1020)Agg>Ggg	p.R340G	AC004076.9_ENST00000415705.3_5'UTR|AC004076.9_ENST00000596831.1_Intron	NM_020633.3	NP_065684.1	Q9GZP7	VN1R1_HUMAN	vomeronasal 1 receptor 1	340					response to pheromone (GO:0019236)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	pheromone receptor activity (GO:0016503)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|skin(2)	19		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)|Breast(46;0.222)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0254)|Lung(386;0.171)		TTCCTTGTCCTGCAGGCAAAA	0.428																																						ENST00000321039.3																			0				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|skin(2)	19						c.(1018-1020)Agg>Ggg		vomeronasal 1 receptor 1							77	79	79					19																	57966837		2203	4300	6503	SO:0001583	missense	57191				response to pheromone	integral to membrane|plasma membrane	pheromone receptor activity	g.chr19:57966837T>C	AF255342	CCDS12951.1	19q13.4	2012-08-22	2003-01-15		ENSG00000178201	ENSG00000178201		"Vomeronasal receptors / Type 1", "GPCR / Unclassified : Vomeronasal receptors, type 1"	13548	protein-coding gene	gene with protein product		605234	"vomeronasal olfactory receptor, (chromosome 19) subtype I, member 1"	VNR19I1		10973240	Standard	NM_020633		Approved	V1RL1, ZVNR1, ZVNH1	uc002qos.2	Q9GZP7		ENST00000321039.3:c.1018A>G	19.37:g.57966837T>C	ENSP00000322339:p.Arg340Gly					AC004076.9_ENST00000596831.1_Intron|AC004076.9_ENST00000415705.3_5'UTR	p.R340G	NM_020633.3	NP_065684.1	Q9GZP7	VN1R1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0254)|Lung(386;0.171)	1	1017	-		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)|Breast(46;0.222)	340					B3KSV5|Q7Z5H8|Q7Z5H9	Missense_Mutation	SNP	ENST00000321039.3	37	c.1018A>G	CCDS12951.1	.	.	.	.	.	.	.	.	.	.	T	2.643	-0.283726	0.05642	.	.	ENSG00000178201	ENST00000321039	T	0.37235	1.21	3.54	-7.08	0.01558	.	.	.	.	.	T	0.15003	0.0362	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.10450	0.005	T	0.29761	-1.0001	9	0.22706	T	0.39	.	9.0117	0.36146	0.1652:0.1063:0.0:0.7286	.	340	Q9GZP7	VN1R1_HUMAN	G	340	ENSP00000322339:R340G	ENSP00000322339:R340G	R	-	1	2	VN1R1	62658649	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.560000	0.05964	-2.436000	0.00553	-1.285000	0.01374	AGG		0.428	VN1R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466464.1	NM_020633		7	96	0	0	0	1	0	7	96					C	57966837	T	C	57966837	3	2	118	1	0	0	0	0	1	0	0	0	17175	1579	55	4	47	4	VN1R1	19	57966837	Missense_Mutation	SNP	T	TCGA-EJ-A65B-01A-12D-A30E-08	18587106	57966837	1162146	44	6246			1	16		2	2	28	N	T_G	4.186398e-05
VN1R1	57191	broad.mit.edu	37	chr19	57966864	57966864	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaaacagaactgagagatatGagtatcactcatgatgagga	18	8	10	5	0	2	6	2	4	0	2	2	8	2	7	0	1	2	1	0	1	5	2			TCGA-EJ-A65B-01A-12D-A30E-08	TCGA-EJ-A65B-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf03c931-271d-477f-ba45-74d7d52ae213	8beb42cb-e084-42a5-89a2-8cf1f0810a67	g.chr19:57966864G>A	ENST00000321039.3	-	1	990	c.991C>T	c.(991-993)Cat>Tat	p.H331Y	AC004076.9_ENST00000415705.3_5'UTR|AC004076.9_ENST00000596831.1_Intron	NM_020633.3	NP_065684.1	Q9GZP7	VN1R1_HUMAN	vomeronasal 1 receptor 1	331					response to pheromone (GO:0019236)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	pheromone receptor activity (GO:0016503)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|skin(2)	19		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)|Breast(46;0.222)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0254)|Lung(386;0.171)		TGAGAGATATGAGTATCACTC	0.458																																						ENST00000321039.3																			0				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|skin(2)	19						c.(991-993)Cat>Tat		vomeronasal 1 receptor 1							86	89	88					19																	57966864		2203	4300	6503	SO:0001583	missense	57191				response to pheromone	integral to membrane|plasma membrane	pheromone receptor activity	g.chr19:57966864G>A	AF255342	CCDS12951.1	19q13.4	2012-08-22	2003-01-15		ENSG00000178201	ENSG00000178201		"Vomeronasal receptors / Type 1", "GPCR / Unclassified : Vomeronasal receptors, type 1"	13548	protein-coding gene	gene with protein product		605234	"vomeronasal olfactory receptor, (chromosome 19) subtype I, member 1"	VNR19I1		10973240	Standard	NM_020633		Approved	V1RL1, ZVNR1, ZVNH1	uc002qos.2	Q9GZP7		ENST00000321039.3:c.991C>T	19.37:g.57966864G>A	ENSP00000322339:p.His331Tyr					AC004076.9_ENST00000596831.1_Intron|AC004076.9_ENST00000415705.3_5'UTR	p.H331Y	NM_020633.3	NP_065684.1	Q9GZP7	VN1R1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0254)|Lung(386;0.171)	1	990	-		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)|Breast(46;0.222)	331					B3KSV5|Q7Z5H8|Q7Z5H9	Missense_Mutation	SNP	ENST00000321039.3	37	c.991C>T	CCDS12951.1	.	.	.	.	.	.	.	.	.	.	G	10.23	1.292955	0.23564	.	.	ENSG00000178201	ENST00000321039	T	0.14266	2.52	4.07	0.464	0.16706	.	.	.	.	.	T	0.14917	0.0360	N	0.19112	0.55	0.09310	N	1	B	0.32071	0.355	P	0.45474	0.482	T	0.45116	-0.9283	9	0.59425	D	0.04	.	11.2474	0.49004	0.0:0.0:0.3571:0.6429	.	331	Q9GZP7	VN1R1_HUMAN	Y	331	ENSP00000322339:H331Y	ENSP00000322339:H331Y	H	-	1	0	VN1R1	62658676	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.041000	0.13927	0.110000	0.17919	0.638000	0.83543	CAT		0.458	VN1R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466464.1	NM_020633		6	117	0	0	0	1	0	6	117					A	57966864	G	A	57966864	3	1	118	1	0	0	0	0	1	0	0	0	17175	1290	45	3	74	3	VN1R1	19	57966864	Missense_Mutation	SNP	G	TCGA-EJ-A65B-01A-12D-A30E-08	27	57966864	1162119	45	6247			1	16		2	2	28	N	T_G	4.186398e-05
PRKX	5613	broad.mit.edu	37	chrX	3573441	3573441	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tagaggaagcgctcgtcatgCcacgtccagaacctgcgggg	9	6	14	12	4	1	2	1	0	0	2	3	3	2	3	3	3	4	1	3	3	3	1			TCGA-EJ-A65B-01A-12D-A30E-08	TCGA-EJ-A65B-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf03c931-271d-477f-ba45-74d7d52ae213	8beb42cb-e084-42a5-89a2-8cf1f0810a67	g.chrX:3573441C>T	ENST00000262848.5	-	3	702	c.348G>A	c.(346-348)tgG>tgA	p.W116*	PRKX_ENST00000425240.1_5'UTR	NM_005044.4	NP_005035.1	P51817	PRKX_HUMAN	protein kinase, X-linked	116	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell-substrate adhesion (GO:0031589)|endothelial cell migration (GO:0043542)|endothelial cell proliferation (GO:0001935)|epithelial tube morphogenesis (GO:0060562)|kidney morphogenesis (GO:0060993)|myeloid cell differentiation (GO:0030099)|peptidyl-serine phosphorylation (GO:0018105)|protein autophosphorylation (GO:0046777)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of epithelial cell differentiation involved in kidney development (GO:2000696)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cAMP-dependent protein kinase activity (GO:0004691)			kidney(1)|large_intestine(2)|lung(6)|pancreas(1)|skin(2)	12		all_lung(23;0.000396)|Lung NSC(23;0.00123)				GCTCGTCATGCCACGTCCAGA	0.662																																						ENST00000262848.5																			0				kidney(1)|large_intestine(2)|lung(6)|pancreas(1)|skin(2)	12						c.(346-348)tgG>tgA		protein kinase, X-linked							48	41	44					X																	3573441		2203	4300	6503	SO:0001587	stop_gained	5613						ATP binding|cAMP-dependent protein kinase activity	g.chrX:3573441C>T		CCDS14125.1	Xp22.3	2008-08-01			ENSG00000183943	ENSG00000183943	2.7.11.1		9441	protein-coding gene	gene with protein product		300083				7633447	Standard	NM_005044		Approved	PKX1	uc010nde.3	P51817	OTTHUMG00000021087	ENST00000262848.5:c.348G>A	X.37:g.3573441C>T	ENSP00000262848:p.Trp116*					PRKX_ENST00000425240.1_5'UTR	p.W116*	NM_005044.4	NP_005035.1	P51817	PRKX_HUMAN			3	702	-		all_lung(23;0.000396)|Lung NSC(23;0.00123)	116			Protein kinase.			Nonsense_Mutation	SNP	ENST00000262848.5	37	c.348G>A	CCDS14125.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.200339	0.79015	.	.	ENSG00000183943	ENST00000262848	.	.	.	3.41	-1.93	0.07594	.	0.721855	0.13943	N	0.352049	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.51188	T	0.08	-1.224	1.1892	0.01862	0.2716:0.2961:0.2916:0.1408	.	.	.	.	X	116	.	ENSP00000262848:W116X	W	-	3	0	PRKX	3583441	0.975000	0.34042	0.029000	0.17559	0.074000	0.17049	0.036000	0.13819	-0.387000	0.07809	-0.347000	0.07816	TGG		0.662	PRKX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055659.1	NM_005044		3	27	0	0	0	1	0	3	27					T	3573441	C	T	3573441	4	4	118	1	0	0	0	0	0	1	0	0	12527	740	26	3	752	3	PRKX	23	3573441	Nonsense_Mutation	SNP	C	TCGA-EJ-A65B-01A-12D-A30E-08		3573441	151697119	46	6248											
BCOR	54880	broad.mit.edu	37	chrX	39911629	39911629	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcaatttcttaaggacatcCgaaagcagtagccagtttcg	12	12	8	9	2	2	0	1	0	1	0	4	2	3	1	2	1	2	3	2	1	4	5	rs375878497		TCGA-EJ-A65B-01A-12D-A30E-08	TCGA-EJ-A65B-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf03c931-271d-477f-ba45-74d7d52ae213	8beb42cb-e084-42a5-89a2-8cf1f0810a67	g.chrX:39911629C>T	ENST00000378444.4	-	15	5229	c.5001G>A	c.(4999-5001)tcG>tcA	p.S1667S	BCOR_ENST00000397354.3_Silent_p.S1633S|BCOR_ENST00000378463.1_Silent_p.S510S|BCOR_ENST00000378455.4_Silent_p.S1615S|BCOR_ENST00000342274.4_Silent_p.S1633S	NM_001123385.1	NP_001116857.1	Q6W2J9	BCOR_HUMAN	BCL6 corepressor	1667	Necessary and sufficient for interaction with PCGF1.				heart development (GO:0007507)|histone H2A monoubiquitination (GO:0035518)|negative regulation of bone mineralization (GO:0030502)|negative regulation of histone H3-K36 methylation (GO:0000415)|negative regulation of histone H3-K4 methylation (GO:0051572)|negative regulation of tooth mineralization (GO:0070171)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|odontogenesis (GO:0042476)|palate development (GO:0060021)|specification of axis polarity (GO:0065001)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	heat shock protein binding (GO:0031072)|histone deacetylase binding (GO:0042826)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						TAAGGACATCCGAAAGCAGTA	0.403			"F, N, S, T"	RARA	"retinoblastoma, AML, APL(translocation)"		oculo-facio-cardio-dental genetic																															ENST00000342274.4				Rec	yes		X	Xp11.4	54880	"F, N, S, T"	BCL6 corepressor	yes	oculo-facio-cardio-dental genetic		RARA		"retinoblastoma, AML, APL(translocation)"		0				breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						c.(4897-4899)tcG>tcA		BCL6 corepressor		C	,,,	1,3832		0,1,1630,571	43	41	41		4899,4845,5001,4899	-8.9	0	X		41	1,6727		0,1,2427,1872	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	BCOR	NM_001123383.1,NM_001123384.1,NM_001123385.1,NM_017745.5	,,,	0,2,4057,2443	TT,TC,CC,C		0.0149,0.0261,0.0189	,,,	1633/1722,1615/1704,1667/1756,1633/1722	39911629	2,10559	2202	4300	6502	SO:0001819	synonymous_variant	54880				heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent	nucleus	heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding	g.chrX:39911629C>T	AF317391	CCDS14250.1, CCDS48092.1, CCDS48093.1	Xp11.4	2014-09-17	2010-06-10		ENSG00000183337	ENSG00000183337		"Ankyrin repeat domain containing"	20893	protein-coding gene	gene with protein product		300485	"BCL6 co-repressor"			10898795	Standard	NM_017745		Approved	FLJ20285, KIAA1575	uc004den.4	Q6W2J9	OTTHUMG00000024100	ENST00000378444.4:c.5001G>A	X.37:g.39911629C>T						BCOR_ENST00000378455.4_Silent_p.S1615S|BCOR_ENST00000397354.3_Silent_p.S1633S|BCOR_ENST00000378463.1_Silent_p.S510S|BCOR_ENST00000378444.4_Silent_p.S1667S	p.S1633S	NM_001123383.1	NP_001116855.1	Q6W2J9	BCOR_HUMAN			15	5261	-			1667					D3DWB3|D3DWB4|Q29RF6|Q6P4B6|Q7Z2K7|Q8TEB4|Q96DB3|Q9H232|Q9H233|Q9HCJ7|Q9NXF2	Silent	SNP	ENST00000378444.4	37	c.4899G>A	CCDS48093.1	.	.	.	.	.	.	.	.	.	.	C	10.25	1.297755	0.23650	2.61E-4	1.49E-4	ENSG00000183337	ENST00000427012	.	.	.	5.5	-8.85	0.00799	.	.	.	.	.	T	0.34019	0.0883	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.39121	-0.9629	4	.	.	.	-13.3181	1.9765	0.03417	0.1927:0.2191:0.387:0.2012	.	.	.	.	R	284	.	.	G	-	1	0	BCOR	39796573	0.002000	0.14202	0.021000	0.16686	0.546000	0.35178	-1.511000	0.02260	-2.098000	0.00850	-1.275000	0.01399	GGA		0.403	BCOR-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060666.2	NM_017745		3	37	0	0	0	1	0	3	37					T	39911629	C	T	39911629	2	4	118	1	0	0	0	0	0	0	0	1	1386	639	23	2		2	BCOR	23	39911629	Silent	SNP	C	TCGA-EJ-A65B-01A-12D-A30E-08	36338188	39911629	115358931	47	6249											
SMARCA1	6594	broad.mit.edu	37	chrX	128599549	128599549	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	atctaaactggggagcatttCgtacacactgtcttaattct	11	14	7	9	1	3	0	0	0	3	0	4	1	3	1	0	2	3	2	0	2	4	5			TCGA-EJ-A65B-01A-12D-A30E-08	TCGA-EJ-A65B-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf03c931-271d-477f-ba45-74d7d52ae213	8beb42cb-e084-42a5-89a2-8cf1f0810a67	g.chrX:128599549C>G	ENST00000371122.4	-	23	3107	c.2978G>C	c.(2977-2979)cGa>cCa	p.R993P	SMARCA1_ENST00000371123.1_Missense_Mutation_p.R981P|SMARCA1_ENST00000371121.3_Missense_Mutation_p.R981P	NM_003069.3	NP_003060.2	P28370	SMCA1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1	993	SANT 2. {ECO:0000255|PROSITE- ProRule:PRU00624}.				ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|brain development (GO:0007420)|chromatin remodeling (GO:0006338)|DNA strand renaturation (GO:0000733)|neuron differentiation (GO:0030182)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of neural precursor cell proliferation (GO:2000177)|transcription, DNA-templated (GO:0006351)	CERF complex (GO:0090537)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|NURF complex (GO:0016589)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(13)|ovary(5)|prostate(1)|skin(1)	45						GGGAGCATTTCGTACACACTG	0.338																																						ENST00000371122.4																			0				biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(13)|ovary(5)|prostate(1)|skin(1)	45						c.(2977-2979)cGa>cCa		SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1							175	160	165					X																	128599549		2203	4300	6503	SO:0001583	missense	6594				ATP-dependent chromatin remodeling|brain development|neuron differentiation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	NURF complex	ATP binding|DNA binding|helicase activity|nucleosome binding|protein binding	g.chrX:128599549C>G	M88163	CCDS14612.1, CCDS76018.1, CCDS76019.1	Xq25	2008-02-05			ENSG00000102038	ENSG00000102038			11097	protein-coding gene	gene with protein product		300012		SNF2L1, SNF2L		1408766, 14609955	Standard	XM_005262461		Approved	SNF2LB, NURF140, ISWI, SWI	uc004eun.4	P28370	OTTHUMG00000022370	ENST00000371122.4:c.2978G>C	X.37:g.128599549C>G	ENSP00000360163:p.Arg993Pro					SMARCA1_ENST00000371121.3_Missense_Mutation_p.R981P|SMARCA1_ENST00000371123.1_Missense_Mutation_p.R981P	p.R993P	NM_003069.3	NP_003060.2	P28370	SMCA1_HUMAN			23	3107	-			993			SANT 2.		Q5JV41|Q5JV42	Missense_Mutation	SNP	ENST00000371122.4	37	c.2978G>C	CCDS14612.1	.	.	.	.	.	.	.	.	.	.	C	24.5	4.540651	0.85917	.	.	ENSG00000102038	ENST00000371121;ENST00000371123;ENST00000371122;ENST00000450039	D;D;D;D	0.92348	-3.02;-3.02;-3.02;-3.0	5.63	5.63	0.86233	SANT domain, DNA binding (1);SLIDE (1);Homeodomain-like (1);	0.000000	0.64402	D	0.000007	D	0.97170	0.9075	M	0.92923	3.36	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	D	0.97996	1.0357	10	0.87932	D	0	-8.6409	18.6879	0.91571	0.0:1.0:0.0:0.0	.	972;993;981;993	E9PCY3;B7ZLQ5;P28370-2;P28370	.;.;.;SMCA1_HUMAN	P	981;981;993;972	ENSP00000360162:R981P;ENSP00000360164:R981P;ENSP00000360163:R993P;ENSP00000404275:R972P	ENSP00000360162:R981P	R	-	2	0	SMARCA1	128427230	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.737000	0.84957	2.358000	0.79984	0.538000	0.68166	CGA		0.338	SMARCA1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058206.1	NM_003069		21	48	0	0	0	1	0	21	48					G	128599549	C	G	128599549	3	3	118	1	0	0	0	0	1	0	0	0	14768	884	31	5	194	5	SMARCA1	23	128599549	Missense_Mutation	SNP	C	TCGA-EJ-A65B-01A-12D-A30E-08	88687920	128599549	26671011	48	6250											
CASZ1	54897	broad.mit.edu	37	chr1	10713951	10713952	+	Frame_Shift_Ins	INS	-	-	CTGGACTCCT																															agtcaacaaggtcgtcgttgINSctggactcctcgtgctccgt																										TCGA-EJ-A65D-01A-11D-A30E-08	TCGA-EJ-A65D-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	955a7101-36b0-4d1d-bd5b-0ab6e3adba5b	aa7b8960-9246-483f-a43b-9366501ee804	g.chr1:10713951_10713952insCTGGACTCCT	ENST00000377022.3	-	11	2479_2480	c.2162_2163insAGGAGTCCAG	c.(2161-2163)agcfs	p.S721fs	RP4-734G22.3_ENST00000606802.1_RNA|CASZ1_ENST00000344008.5_Frame_Shift_Ins_p.S721fs	NM_001079843.2	NP_001073312.1	Q86V15	CASZ1_HUMAN	castor zinc finger 1	721					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|large_intestine(13)|lung(18)|ovary(2)|prostate(5)|skin(2)|urinary_tract(1)	54	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)		GGTCGTCGTTGCTGGACTCCTC	0.683																																						ENST00000377022.3																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|large_intestine(13)|lung(18)|ovary(2)|prostate(5)|skin(2)|urinary_tract(1)	54						c.(2161-2163)aaafs		castor zinc finger 1																																				SO:0001589	frameshift_variant	54897				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding	g.chr1:10713951_10713952insCTGGACTCCT	AK000328	CCDS120.2, CCDS41246.1	1p36.22	2013-01-07	2007-02-02		ENSG00000130940	ENSG00000130940		"Zinc fingers, C2H2-type"	26002	protein-coding gene	gene with protein product	"zinc finger protein 693", "survival related gene"	609895	"castor homolog 1, zinc finger (Drosophila)"			16631614, 21252912	Standard	NM_001079843		Approved	FLJ20321, ZNF693, castor, cst, SRG	uc001aro.4	Q86V15	OTTHUMG00000002035	ENST00000377022.3:c.2153_2162dupAGGAGTCCAG	1.37:g.10713952_10713961dupCTGGACTCCT	ENSP00000366221:p.Ser721fs					CASZ1_ENST00000344008.5_Frame_Shift_Ins_p.-721fs|RP4-734G22.3_ENST00000606802.1_RNA	p.-721fs	NM_001079843.1	NP_001073312.1	Q86V15	CASZ1_HUMAN	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)	11	2479_2480	-	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)						Q078S9|Q2EN02|Q5T9S1|Q6ZNM8|Q8WX49|Q8WX50|Q9BT16|Q9NXC6	Frame_Shift_Ins	INS	ENST00000377022.3	37	c.2162_2163insAGGAGTCCAG	CCDS41246.1																																																																																				0.683	CASZ1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005673.2	NM_017766		14	75						14	75	---	---	---	---	CTGGACTCCT	10713952	-	CTGGACTCCT	10713951	7	5	119	1	0	1	1	0	0	0	0	0	2685	1310	46	0	3164	0	CASZ1	1	10713951	Frame_Shift_Ins	INS	-	TCGA-EJ-A65D-01A-11D-A30E-08		10713951	238536670	1	6251											
HNRNPCL1	343069	broad.mit.edu	37	chr1	12907828	12907828	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tccaagtcaaaagaggagccGtacatctccgctgctgatcg	11	8	10	12	3	2	2	1	1	1	1	5	3	3	3	3	1	3	3	3	1	4	1			TCGA-EJ-A65D-01A-11D-A30E-08	TCGA-EJ-A65D-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	955a7101-36b0-4d1d-bd5b-0ab6e3adba5b	aa7b8960-9246-483f-a43b-9366501ee804	g.chr1:12907828G>A	ENST00000317869.6	-	2	540	c.315C>T	c.(313-315)taC>taT	p.Y105Y		NM_001013631.1|NM_001136561.2|NM_001146181.1	NP_001013653.1|NP_001130033.2|NP_001139653.1	O60812	HNRC1_HUMAN	heterogeneous nuclear ribonucleoprotein C-like 1	105						nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|stomach(2)	29						AAGAGGAGCCGTACATCTCCG	0.493																																						ENST00000317869.6																			0				NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|stomach(2)	29						c.(313-315)taC>taT		heterogeneous nuclear ribonucleoprotein C-like 1							117	111	113					1																	12907828		2203	4300	6503	SO:0001819	synonymous_variant	343069							g.chr1:12907828G>A	BC002696	CCDS30591.1	1p36.21	2013-02-12		2008-04-18	ENSG00000179172	ENSG00000179172		"RNA binding motif (RRM) containing"	29295	protein-coding gene	gene with protein product				HNRPCL1			Standard	NM_001013631		Approved			O60812	OTTHUMG00000001931	ENST00000317869.6:c.315C>T	1.37:g.12907828G>A							p.Y105Y	NM_001013631.1|NM_001136561.2|NM_001146181.1	NP_001013653.1|NP_001130033.2|NP_001139653.1					2	540	-								B2RP44	Silent	SNP	ENST00000317869.6	37	c.315C>T	CCDS30591.1																																																																																				0.493	HNRNPCL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005462.1	NM_001013631		45	104	0	0	0	1	0	45	104					A	12907828	G	A	12907828	2	1	119	1	0	0	0	0	0	0	0	1	7263	1140	40	1		1	HNRNPCL1	1	12907828	Silent	SNP	G	TCGA-EJ-A65D-01A-11D-A30E-08	2193877	12907828	236342793	2	6252											
TOE1	114034	broad.mit.edu	37	chr1	45808866	45808866	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcggcgacggcgacgacgtaGggaaaaacggaagagggctt	12	3	18	8	7	0	1	0	0	0	1	0	6	0	3	0	5	1	2	0	5	4	2			TCGA-EJ-A65D-01A-11D-A30E-08	TCGA-EJ-A65D-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	955a7101-36b0-4d1d-bd5b-0ab6e3adba5b	aa7b8960-9246-483f-a43b-9366501ee804	g.chr1:45808866G>C	ENST00000372090.5	+	8	1608	c.1025G>C	c.(1024-1026)aGg>aCg	p.R342T	MUTYH_ENST00000372098.3_5'Flank|MUTYH_ENST00000450313.1_5'Flank|TOE1_ENST00000539779.1_Missense_Mutation_p.R262T|MUTYH_ENST00000529984.1_5'Flank|MUTYH_ENST00000528332.2_5'Flank|TOE1_ENST00000495703.1_3'UTR|TESK2_ENST00000486676.1_5'Flank|MUTYH_ENST00000372110.3_5'Flank|MUTYH_ENST00000372115.3_5'Flank	NM_025077.3	NP_079353.3	Q96GM8	TOE1_HUMAN	target of EGR1, member 1 (nuclear)	342						nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	11	Acute lymphoblastic leukemia(166;0.155)					CGACGACGTAGGGAAAAACGG	0.562																																						ENST00000372090.5																			0				breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	11						c.(1024-1026)aGg>aCg		target of EGR1, member 1 (nuclear)							112	114	113					1																	45808866		2203	4300	6503	SO:0001583	missense	114034					nuclear speck|nucleolus	nucleic acid binding|zinc ion binding	g.chr1:45808866G>C		CCDS521.1	1p33	2011-02-03			ENSG00000132773	ENSG00000132773			15954	protein-coding gene	gene with protein product		613931				12562764	Standard	NM_025077		Approved		uc009vxq.3	Q96GM8	OTTHUMG00000007678	ENST00000372090.5:c.1025G>C	1.37:g.45808866G>C	ENSP00000361162:p.Arg342Thr					TOE1_ENST00000495703.1_3'UTR|TOE1_ENST00000539779.1_Missense_Mutation_p.R262T	p.R342T	NM_025077.3	NP_079353.3	Q96GM8	TOE1_HUMAN			8	1608	+	Acute lymphoblastic leukemia(166;0.155)		342					B4DEM6|Q6IA35|Q8IWN5|Q9H846	Missense_Mutation	SNP	ENST00000372090.5	37	c.1025G>C	CCDS521.1	.	.	.	.	.	.	.	.	.	.	G	9.938	1.216744	0.22373	.	.	ENSG00000132773	ENST00000372090;ENST00000539779	T;T	0.35421	1.33;1.31	5.99	-1.56	0.08532	.	0.406625	0.28273	N	0.015941	T	0.28599	0.0708	L	0.55990	1.75	0.09310	N	1	P;P	0.36354	0.491;0.549	B;B	0.37780	0.258;0.174	T	0.15292	-1.0442	10	0.52906	T	0.07	-3.4576	6.3453	0.21345	0.4404:0.1205:0.4391:0.0	.	262;342	B4DEM6;Q96GM8	.;TOE1_HUMAN	T	342;262	ENSP00000361162:R342T;ENSP00000438900:R262T	ENSP00000361162:R342T	R	+	2	0	TOE1	45581453	0.267000	0.24122	0.001000	0.08648	0.488000	0.33401	0.389000	0.20751	-0.577000	0.05967	0.655000	0.94253	AGG		0.562	TOE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000020517.1	NM_025077		124	119	0	0	0	1	0	124	119					C	45808866	G	C	45808866	3	2	119	1	0	0	0	0	1	0	0	0	16346	1000	35	5	1055	5	TOE1	1	45808866	Missense_Mutation	SNP	G	TCGA-EJ-A65D-01A-11D-A30E-08	32901038	45808866	203441755	3	6253											
NTRK1	4914	broad.mit.edu	37	chr1	156848943	156848943	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acctgatgccaagctgctggCtggtggggaggatgtggctc	6	9	17	9	0	0	1	0	1	0	0	1	3	0	3	2	6	3	4	2	6	1	0			TCGA-EJ-A65D-01A-11D-A30E-08	TCGA-EJ-A65D-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	955a7101-36b0-4d1d-bd5b-0ab6e3adba5b	aa7b8960-9246-483f-a43b-9366501ee804	g.chr1:156848943C>T	ENST00000524377.1	+	15	1876	c.1835C>T	c.(1834-1836)gCt>gTt	p.A612V	NTRK1_ENST00000392302.2_Missense_Mutation_p.A576V|NTRK1_ENST00000358660.3_Missense_Mutation_p.A609V|NTRK1_ENST00000368196.3_Missense_Mutation_p.A606V	NM_002529.3	NP_002520.2	P04629	NTRK1_HUMAN	neurotrophic tyrosine kinase, receptor, type 1	612	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of adenylate cyclase activity (GO:0007190)|activation of MAPKK activity (GO:0000186)|activation of phospholipase C activity (GO:0007202)|aging (GO:0007568)|axon guidance (GO:0007411)|axonogenesis involved in innervation (GO:0060385)|B cell differentiation (GO:0030183)|cellular response to nerve growth factor stimulus (GO:1990090)|cellular response to nicotine (GO:0071316)|circadian rhythm (GO:0007623)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|developmental programmed cell death (GO:0010623)|learning or memory (GO:0007611)|mechanoreceptor differentiation (GO:0042490)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|olfactory nerve development (GO:0021553)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of angiogenesis (GO:0045766)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron projection development (GO:0010976)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of programmed cell death (GO:0043068)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Ras protein signal transduction (GO:0046579)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|Ras protein signal transduction (GO:0007265)|response to activity (GO:0014823)|response to axon injury (GO:0048678)|response to drug (GO:0042493)|response to electrical stimulus (GO:0051602)|response to ethanol (GO:0045471)|response to hydrostatic pressure (GO:0051599)|response to nutrient levels (GO:0031667)|response to radiation (GO:0009314)|Sertoli cell development (GO:0060009)|small GTPase mediated signal transduction (GO:0007264)|sympathetic nervous system development (GO:0048485)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	axon (GO:0030424)|cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|early endosome (GO:0005769)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|nerve growth factor binding (GO:0048406)|nerve growth factor receptor activity (GO:0010465)|neurotrophin binding (GO:0043121)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(35)|ovary(8)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	74	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)				Amitriptyline(DB00321)|Imatinib(DB00619)|Regorafenib(DB08896)	AAGCTGCTGGCTGGTGGGGAG	0.637			T	"TPM3, TPR, TFG"	papillary thyroid					TSP Lung(10;0.080)																												ENST00000368196.3				Dom	yes		1	1q21-q22	4914	T	"neurotrophic tyrosine kinase, receptor, type 1"			E	"TPM3, TPR, TFG"		papillary thyroid		0				breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(35)|ovary(8)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	74						c.(1816-1818)gCt>gTt		neurotrophic tyrosine kinase, receptor, type 1	Imatinib(DB00619)						28	30	29					1																	156848943		2203	4300	6503	SO:0001583	missense	4914				activation of adenylate cyclase activity|activation of MAPKK activity|activation of phospholipase C activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development|phosphatidylinositol-mediated signaling|Ras protein signal transduction	endosome|integral to plasma membrane	ATP binding|neurotrophin receptor activity|transmembrane receptor protein serine/threonine kinase activity|transmembrane receptor protein tyrosine kinase activity	g.chr1:156848943C>T	Y09028	CCDS1161.1, CCDS30890.1, CCDS30891.1	1q21-q22	2014-09-17			ENSG00000198400	ENSG00000198400	2.7.10.1	"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	8031	protein-coding gene	gene with protein product	"high affinity nerve growth factor receptor"	191315				2869410	Standard	NM_001007792		Approved	TRK, TRKA, MTC	uc001fqh.1	P04629	OTTHUMG00000041304	ENST00000524377.1:c.1835C>T	1.37:g.156848943C>T	ENSP00000431418:p.Ala612Val	TSP Lung(10;0.080)				NTRK1_ENST00000524377.1_Missense_Mutation_p.A612V|NTRK1_ENST00000392302.2_Missense_Mutation_p.A576V|NTRK1_ENST00000358660.3_Missense_Mutation_p.A609V	p.A606V	NM_001012331.1	NP_001012331.1	P04629	NTRK1_HUMAN			14	1937	+	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)		612			Protein kinase.		B2R6T5|B7ZM34|P08119|Q15655|Q15656|Q5D056|Q5VZS2|Q7Z5C3|Q9UIU7	Missense_Mutation	SNP	ENST00000524377.1	37	c.1817C>T	CCDS1161.1	.	.	.	.	.	.	.	.	.	.	C	10.69	1.421135	0.25639	.	.	ENSG00000198400	ENST00000392302;ENST00000368196;ENST00000524377;ENST00000358660	D;D;D;D	0.88975	-2.45;-2.45;-2.45;-2.45	4.37	4.37	0.52481	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.400354	0.20979	N	0.082249	T	0.68988	0.3061	N	0.25380	0.74	0.36172	D	0.848859	B;B;B;B	0.12013	0.001;0.001;0.004;0.005	B;B;B;B	0.14023	0.008;0.002;0.007;0.01	T	0.61628	-0.7024	10	0.15952	T	0.53	.	10.0302	0.42096	0.3056:0.6944:0.0:0.0	.	609;606;612;576	A8K3Z4;P04629-2;P04629;A6NF12	.;.;NTRK1_HUMAN;.	V	576;606;612;609	ENSP00000376120:A576V;ENSP00000357179:A606V;ENSP00000431418:A612V;ENSP00000351486:A609V	ENSP00000351486:A609V	A	+	2	0	NTRK1	155115567	0.191000	0.23288	1.000000	0.80357	0.952000	0.60782	0.872000	0.28037	2.432000	0.82394	0.561000	0.74099	GCT		0.637	NTRK1-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000392279.1	NM_002529		14	31	0	0	0	1	0	14	31					T	156848943	C	T	156848943	3	4	119	1	0	0	0	0	1	0	0	0	10706	797	28	3	2023	3	NTRK1	1	156848943	Missense_Mutation	SNP	C	TCGA-EJ-A65D-01A-11D-A30E-08	111040077	156848943	92401678	4	6254											
PLD5	200150	broad.mit.edu	37	chr1	242383349	242383349	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atacacgtgctgtttgtccaCgatccagaaggaggactgca	11	9	11	10	2	0	1	0	0	0	1	2	4	2	3	2	2	3	3	2	2	2	2			TCGA-EJ-A65D-01A-11D-A30E-08	TCGA-EJ-A65D-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	955a7101-36b0-4d1d-bd5b-0ab6e3adba5b	aa7b8960-9246-483f-a43b-9366501ee804	g.chr1:242383349C>T	ENST00000536534.2	-	5	917	c.676G>A	c.(676-678)Gtg>Atg	p.V226M	PLD5_ENST00000427495.1_Missense_Mutation_p.V164M|PLD5_ENST00000442594.2_Missense_Mutation_p.V134M			Q8N7P1	PLD5_HUMAN	phospholipase D family, member 5	226	PLD phosphodiesterase 1.					integral component of membrane (GO:0016021)	catalytic activity (GO:0003824)			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(22)|ovary(6)|skin(3)|urinary_tract(1)	55	Melanoma(84;0.242)		OV - Ovarian serous cystadenocarcinoma(106;0.0329)			TGTTTGTCCACGATCCAGAAG	0.527																																						ENST00000442594.2																			0				breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(22)|ovary(6)|skin(3)|urinary_tract(1)	55						c.(400-402)Gtg>Atg		phospholipase D family, member 5							131	113	119					1																	242383349		2203	4300	6503	SO:0001583	missense	200150					integral to membrane	catalytic activity	g.chr1:242383349C>T	AK098092	CCDS1621.1, CCDS1621.2, CCDS55692.1	1q43	2008-02-05			ENSG00000180287	ENSG00000180287			26879	protein-coding gene	gene with protein product							Standard	NM_001195811		Approved	FLJ40773	uc001hzn.2	Q8N7P1	OTTHUMG00000039867	ENST00000536534.2:c.676G>A	1.37:g.242383349C>T	ENSP00000440896:p.Val226Met					PLD5_ENST00000536534.1_Missense_Mutation_p.V226M|PLD5_ENST00000427495.1_Missense_Mutation_p.V164M	p.V134M	NM_152666.2	NP_689879.2	Q8N7P1	PLD5_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0329)		6	909	-	Melanoma(84;0.242)		226					A1KXV0|B7Z324|Q494U9|Q8NB22	Missense_Mutation	SNP	ENST00000536534.2	37	c.400G>A	CCDS1621.2	.	.	.	.	.	.	.	.	.	.	C	22.4	4.291359	0.80914	.	.	ENSG00000180287	ENST00000427495;ENST00000442594;ENST00000536534	T;T;T	0.18810	2.19;2.19;2.19	5.52	4.6	0.57074	Phospholipase D/Transphosphatidylase (1);	0.000000	0.85682	D	0.000000	T	0.48909	0.1526	M	0.90814	3.15	0.50171	D	0.999857	D;D;D	0.76494	0.999;0.999;0.999	D;P;P	0.65233	0.933;0.894;0.888	T	0.56306	-0.8001	10	0.72032	D	0.01	-6.4777	10.7734	0.46336	0.0:0.9091:0.0:0.0909	.	134;226;164	Q8N7P1-2;Q8N7P1;Q8N7P1-4	.;PLD5_HUMAN;.	M	164;134;226	ENSP00000401285:V164M;ENSP00000414188:V134M;ENSP00000440896:V226M	ENSP00000401285:V164M	V	-	1	0	PLD5	240449972	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.859000	0.62954	2.591000	0.87537	0.655000	0.94253	GTG		0.527	PLD5-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397213.2	NM_152666		4	76	0	0	0	1	0	4	76					T	242383349	C	T	242383349	3	4	119	1	0	0	0	0	1	0	0	0	12049	536	19	1	958	1	PLD5	1	242383349	Missense_Mutation	SNP	C	TCGA-EJ-A65D-01A-11D-A30E-08	85534406	242383349	6867272	5	6255											
EIF4E2	9470	broad.mit.edu	37	chr2	233431668	233431668	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ttggggaggagatctgtgggGctgtggtgtctgtccgcttt	3	14	18	6	1	2	1	0	0	2	1	3	3	3	2	1	6	0	2	1	6	0	2			TCGA-EJ-A65D-01A-11D-A30E-08	TCGA-EJ-A65D-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	955a7101-36b0-4d1d-bd5b-0ab6e3adba5b	aa7b8960-9246-483f-a43b-9366501ee804	g.chr2:233431668G>C	ENST00000258416.3	+	5	1178	c.505G>C	c.(505-507)Gct>Cct	p.A169P	EIF4E2_ENST00000409098.1_Missense_Mutation_p.A169P|EIF4E2_ENST00000409514.1_Missense_Mutation_p.A169P|EIF4E2_ENST00000409394.1_Missense_Mutation_p.A124P|EIF4E2_ENST00000409167.3_Missense_Mutation_p.A124P|EIF4E2_ENST00000409495.1_Missense_Mutation_p.A169P|EIF4E2_ENST00000409322.1_Missense_Mutation_p.A124P	NM_004846.2	NP_004837.1	O60573	IF4E2_HUMAN	eukaryotic translation initiation factor 4E family member 2	169					cytokine-mediated signaling pathway (GO:0019221)|in utero embryonic development (GO:0001701)|negative regulation of translation (GO:0017148)	cytosol (GO:0005829)|mRNA cap binding complex (GO:0005845)	poly(A) RNA binding (GO:0044822)|RNA cap binding (GO:0000339)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)|ubiquitin protein ligase binding (GO:0031625)			endometrium(2)|kidney(1)|large_intestine(2)|lung(3)	8		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;2.3e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000912)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		GATCTGTGGGGCTGTGGTGTC	0.552																																						ENST00000409514.1																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(3)	8						c.(505-507)Gct>Cct		eukaryotic translation initiation factor 4E family member 2							100	100	100					2																	233431668		2203	4300	6503	SO:0001583	missense	9470				regulation of translation	cytoplasm|mRNA cap binding complex	RNA cap binding|translation initiation factor activity|ubiquitin protein ligase binding	g.chr2:233431668G>C	AF038957	CCDS2496.1, CCDS63158.1, CCDS63159.1, CCDS74671.1	2q37.1	2008-02-05	2006-11-13	2004-10-30	ENSG00000135930	ENSG00000135930			3293	protein-coding gene	gene with protein product		605895	"eukaryotic translation initiation factor 4E-like 3"	EIF4EL3		9653160, 9582349	Standard	XM_005246975		Approved	IF4e, 4EHP	uc002vta.3	O60573	OTTHUMG00000133256	ENST00000258416.3:c.505G>C	2.37:g.233431668G>C	ENSP00000258416:p.Ala169Pro					EIF4E2_ENST00000409495.1_Missense_Mutation_p.A169P|EIF4E2_ENST00000409322.1_Missense_Mutation_p.A124P|EIF4E2_ENST00000258416.3_Missense_Mutation_p.A169P|EIF4E2_ENST00000409394.1_Missense_Mutation_p.A124P|EIF4E2_ENST00000409098.1_Missense_Mutation_p.A169P|EIF4E2_ENST00000409167.3_Missense_Mutation_p.A124P	p.A169P			O60573	IF4E2_HUMAN		Epithelial(121;2.3e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000912)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)	5	547	+		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)	169					B8ZZJ9|O75349	Missense_Mutation	SNP	ENST00000258416.3	37	c.505G>C	CCDS2496.1	.	.	.	.	.	.	.	.	.	.	G	29.5	5.015591	0.93404	.	.	ENSG00000135930	ENST00000258416;ENST00000409514;ENST00000409098;ENST00000409495;ENST00000409167;ENST00000409322;ENST00000409394;ENST00000454501	T;T;T;T;T;T;T;T	0.50001	0.76;0.76;0.76;0.76;0.76;0.76;0.76;0.76	5.64	5.64	0.86602	Translation Initiation factor eIF- 4e-like  domain (2);	0.000000	0.85682	D	0.000000	T	0.79137	0.4395	H	0.96111	3.77	0.80722	D	1	D;D;D	0.89917	0.999;1.0;0.998	D;D;D	0.77557	0.983;0.99;0.977	D	0.84947	0.0869	10	0.87932	D	0	-18.7768	17.243	0.87019	0.0:0.0:1.0:0.0	.	124;169;169	B4E1E4;B8ZZJ9;O60573	.;.;IF4E2_HUMAN	P	169;169;169;169;124;124;124;164	ENSP00000258416:A169P;ENSP00000387336:A169P;ENSP00000386996:A169P;ENSP00000386876:A169P;ENSP00000387328:A124P;ENSP00000386424:A124P;ENSP00000386983:A124P;ENSP00000390904:A164P	ENSP00000258416:A169P	A	+	1	0	EIF4E2	233139912	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.581000	0.98210	2.937000	0.99478	0.650000	0.86243	GCT		0.552	EIF4E2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257033.2	NM_004846		6	66	0	0	0	1	0	6	66					C	233431668	G	C	233431668	3	2	119	1	0	0	0	0	1	0	0	0	5030	1203	42	5	523	5	EIF4E2	2	233431668	Missense_Mutation	SNP	G	TCGA-EJ-A65D-01A-11D-A30E-08		233431668	9767705	6	6256											
XIRP1	165904	broad.mit.edu	37	chr3	39227360	39227360	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagcccccaggctcctcccGccctggcccagtactctgac	5	6	9	21	1	1	1	0	1	1	0	3	1	3	1	6	2	2	3	6	2	1	1	rs371572701		TCGA-EJ-A65D-01A-11D-A30E-08	TCGA-EJ-A65D-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	955a7101-36b0-4d1d-bd5b-0ab6e3adba5b	aa7b8960-9246-483f-a43b-9366501ee804	g.chr3:39227360G>A	ENST00000340369.3	-	2	3805	c.3577C>T	c.(3577-3579)Cgg>Tgg	p.R1193W	XIRP1_ENST00000396251.1_Intron|XIRP1_ENST00000421646.1_Intron	NM_194293.2	NP_919269.2	Q702N8	XIRP1_HUMAN	xin actin-binding repeat containing 1	1193					cardiac muscle cell development (GO:0055013)|negative regulation of cell proliferation (GO:0008285)|regulation of membrane potential (GO:0042391)|sarcomere organization (GO:0045214)	fascia adherens (GO:0005916)	poly(A) RNA binding (GO:0044822)	p.R1193W(1)		breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6)	71				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		GGCTCCTCCCGCCCTGGCCCA	0.677																																						ENST00000340369.3																			1	Substitution - Missense(1)	p.R1193W(1)	endometrium(1)	breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6)	71						c.(3577-3579)Cgg>Tgg		xin actin-binding repeat containing 1		G	,TRP/ARG	0,4402		0,0,2201	21	25	24		,3577	-0.5	0	3		24	1,8599		0,1,4299	no	intron,missense	XIRP1	NM_001198621.1,NM_194293.2	,101	0,1,6500	AA,AG,GG		0.0116,0.0,0.0077	,benign	,1193/1844	39227360	1,13001	2201	4300	6501	SO:0001583	missense	165904						actin binding	g.chr3:39227360G>A	AW755250	CCDS2683.1, CCDS56245.1	3p21.33	2008-02-05	2007-06-27	2007-06-27	ENSG00000168334	ENSG00000168334			14301	protein-coding gene	gene with protein product		609777	"cardiomyopathy associated 1"	CMYA1		12203715, 15454575	Standard	NM_001198621		Approved	DKFZp451D042, Xin	uc003cjk.2	Q702N8	OTTHUMG00000131297	ENST00000340369.3:c.3577C>T	3.37:g.39227360G>A	ENSP00000343140:p.Arg1193Trp					XIRP1_ENST00000421646.1_Intron|XIRP1_ENST00000396251.1_Intron	p.R1193W	NM_194293.2	NP_919269.2	Q702N8	XIRP1_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)	2	3805	-			1193					A0JP25|A4QPE2|Q68DF2|Q6ZTR3|Q702N9|Q8IVN7|Q8N1N3|Q8N904|Q8TCG7	Missense_Mutation	SNP	ENST00000340369.3	37	c.3577C>T	CCDS2683.1	.	.	.	.	.	.	.	.	.	.	G	9.595	1.127172	0.20959	0.0	1.16E-4	ENSG00000168334	ENST00000340369	T	0.03745	3.82	4.57	-0.46	0.12175	.	0.830318	0.10387	N	0.680851	T	0.01835	0.0058	N	0.03608	-0.345	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.46638	-0.9177	10	0.40728	T	0.16	.	7.4287	0.27115	0.518:0.0:0.482:0.0	.	1193	Q702N8	XIRP1_HUMAN	W	1193	ENSP00000343140:R1193W	ENSP00000343140:R1193W	R	-	1	2	XIRP1	39202364	0.000000	0.05858	0.000000	0.03702	0.937000	0.57800	-0.345000	0.07770	-0.208000	0.10171	0.561000	0.74099	CGG		0.677	XIRP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254065.1	XM_093522		5	52	0	0	0	1	0	5	52					A	39227360	G	A	39227360	3	1	119	1	0	0	0	0	1	0	0	0	17426	1086	38	1	1958	1	XIRP1	3	39227360	Missense_Mutation	SNP	G	TCGA-EJ-A65D-01A-11D-A30E-08		39227360	158795070	7	6257											
CTNNB1	1499	broad.mit.edu	37	chr3	41266124	41266124	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gaatccattctggtgccactAccacagctccttctctgagt	8	12	7	14	0	2	1	0	1	2	0	5	2	4	1	4	1	3	1	4	1	2	3	rs121913412		TCGA-EJ-A65D-01A-11D-A30E-08	TCGA-EJ-A65D-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	955a7101-36b0-4d1d-bd5b-0ab6e3adba5b	aa7b8960-9246-483f-a43b-9366501ee804	g.chr3:41266124A>G	ENST00000349496.5	+	3	401	c.121A>G	c.(121-123)Acc>Gcc	p.T41A	CTNNB1_ENST00000453024.1_Missense_Mutation_p.T34A|CTNNB1_ENST00000396185.3_Missense_Mutation_p.T41A|CTNNB1_ENST00000405570.1_Missense_Mutation_p.T41A|CTNNB1_ENST00000396183.3_Missense_Mutation_p.T41A	NM_001904.3	NP_001895.1	P35222	CTNB1_HUMAN	catenin (cadherin-associated protein), beta 1, 88kDa	41			T -> A (in hepatoblastoma and hepatocellular carcinoma; also in a desmoid tumor; strongly reduces phosphorylation and degradation; abolishes phosphorylation on Ser-33 and Ser-37 and enhances transactivation of target genes). {ECO:0000269|PubMed:10391090, ECO:0000269|PubMed:10398436, ECO:0000269|PubMed:10435629, ECO:0000269|PubMed:10655994, ECO:0000269|PubMed:9927029}.|T -> I (in PTR, hepatocellular carcinoma and ovarian cancer). {ECO:0000269|PubMed:10192393, ECO:0000269|PubMed:10391090, ECO:0000269|PubMed:10435629}.		adherens junction assembly (GO:0034333)|androgen receptor signaling pathway (GO:0030521)|anterior/posterior axis specification (GO:0009948)|apoptotic process (GO:0006915)|bone resorption (GO:0045453)|branching involved in ureteric bud morphogenesis (GO:0001658)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|canonical Wnt signaling pathway involved in positive regulation of cardiac outflow tract cell proliferation (GO:0061324)|canonical Wnt signaling pathway involved in positive regulation of epithelial to mesenchymal transition (GO:0044334)|cell adhesion (GO:0007155)|cell fate specification (GO:0001708)|cell maturation (GO:0048469)|cell-matrix adhesion (GO:0007160)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to growth factor stimulus (GO:0071363)|cellular response to indole-3-methanol (GO:0071681)|cellular response to mechanical stimulus (GO:0071260)|central nervous system vasculogenesis (GO:0022009)|cytoskeletal anchoring at plasma membrane (GO:0007016)|determination of dorsal/ventral asymmetry (GO:0048262)|dorsal/ventral axis specification (GO:0009950)|ectoderm development (GO:0007398)|embryonic axis specification (GO:0000578)|embryonic digit morphogenesis (GO:0042733)|embryonic foregut morphogenesis (GO:0048617)|embryonic forelimb morphogenesis (GO:0035115)|embryonic heart tube development (GO:0035050)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal limb joint morphogenesis (GO:0036023)|endodermal cell fate commitment (GO:0001711)|endothelial tube morphogenesis (GO:0061154)|epithelial cell differentiation involved in prostate gland development (GO:0060742)|epithelial to mesenchymal transition (GO:0001837)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|fungiform papilla formation (GO:0061198)|gastrulation with mouth forming second (GO:0001702)|genitalia morphogenesis (GO:0035112)|glial cell fate determination (GO:0007403)|hair cell differentiation (GO:0035315)|hair follicle morphogenesis (GO:0031069)|hair follicle placode formation (GO:0060789)|hindbrain development (GO:0030902)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|layer formation in cerebral cortex (GO:0021819)|lens morphogenesis in camera-type eye (GO:0002089)|liver development (GO:0001889)|lung cell differentiation (GO:0060479)|lung induction (GO:0060492)|lung-associated mesenchyme development (GO:0060484)|male genitalia development (GO:0030539)|mesenchymal cell proliferation involved in lung development (GO:0060916)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|midgut development (GO:0007494)|muscle cell differentiation (GO:0042692)|myoblast differentiation (GO:0045445)|negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of heart induction by canonical Wnt signaling pathway (GO:0003136)|negative regulation of neuron death (GO:1901215)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein sumoylation (GO:0033234)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nephron tubule formation (GO:0072079)|neural plate development (GO:0001840)|neuron migration (GO:0001764)|odontogenesis of dentin-containing tooth (GO:0042475)|oocyte development (GO:0048599)|osteoclast differentiation (GO:0030316)|oviduct development (GO:0060066)|pancreas development (GO:0031016)|patterning of blood vessels (GO:0001569)|positive regulation of apoptotic process (GO:0043065)|positive regulation of branching involved in lung morphogenesis (GO:0061047)|positive regulation of determination of dorsal identity (GO:2000017)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of epithelial cell proliferation involved in prostate gland development (GO:0060769)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of fibroblast growth factor receptor signaling pathway (GO:0045743)|positive regulation of heparan sulfate proteoglycan biosynthetic process (GO:0010909)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein heterooligomerization (GO:0051291)|protein localization to cell surface (GO:0034394)|proximal/distal pattern formation (GO:0009954)|regulation of angiogenesis (GO:0045765)|regulation of calcium ion import (GO:0090279)|regulation of centriole-centriole cohesion (GO:0030997)|regulation of centromeric sister chromatid cohesion (GO:0070602)|regulation of fibroblast proliferation (GO:0048145)|regulation of myelination (GO:0031641)|regulation of nephron tubule epithelial cell differentiation (GO:0072182)|regulation of protein localization to cell surface (GO:2000008)|regulation of secondary heart field cardioblast proliferation (GO:0003266)|regulation of smooth muscle cell proliferation (GO:0048660)|regulation of T cell proliferation (GO:0042129)|renal inner medulla development (GO:0072053)|renal outer medulla development (GO:0072054)|renal vesicle formation (GO:0072033)|response to cadmium ion (GO:0046686)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|Schwann cell proliferation (GO:0014010)|single organismal cell-cell adhesion (GO:0016337)|smooth muscle cell differentiation (GO:0051145)|synapse organization (GO:0050808)|synaptic vesicle transport (GO:0048489)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tongue morphogenesis (GO:0043587)|trachea formation (GO:0060440)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	adherens junction (GO:0005912)|apical part of cell (GO:0045177)|basolateral plasma membrane (GO:0016323)|beta-catenin destruction complex (GO:0030877)|beta-catenin-TCF7L2 complex (GO:0070369)|catenin complex (GO:0016342)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cell periphery (GO:0071944)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|membrane (GO:0016020)|microvillus membrane (GO:0031528)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein-DNA complex (GO:0032993)|Scrib-APC-beta-catenin complex (GO:0034750)|synapse (GO:0045202)|tight junction (GO:0005923)|transcription factor complex (GO:0005667)|Z disc (GO:0030018)|zonula adherens (GO:0005915)	alpha-catenin binding (GO:0045294)|androgen receptor binding (GO:0050681)|cadherin binding (GO:0045296)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|estrogen receptor binding (GO:0030331)|I-SMAD binding (GO:0070411)|ion channel binding (GO:0044325)|kinase binding (GO:0019900)|nuclear hormone receptor binding (GO:0035257)|protein C-terminus binding (GO:0008022)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|R-SMAD binding (GO:0070412)|RNA polymerase II activating transcription factor binding (GO:0001102)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|SMAD binding (GO:0046332)|structural molecule activity (GO:0005198)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)	p.T41A(550)|p.A5_A80del(53)|p.A5_Q143del(7)|p.A5_A80>D(7)|p.T41P(6)|p.Q28_H134del(5)|p.?(4)|p.W25_I140del(3)|p.T41S(3)|p.T3_A126del(2)|p.A5fs*7(2)|p.D32_S47del(2)|p.M5_N141>D(2)|p.L10_N141del(2)|p.A5_Y142>D(2)|p.A5_Q143>E(1)|p.S37_G48>C(1)|p.A13_R151del(1)|p.H36_E53>L(1)|p.M14_S45del(1)|p.T40_L46del(1)|p.A20_N141del(1)|p.T41_N51del(1)|p.M1_A87del(1)|p.D11_Y142>H(1)|p.I35_T41del(1)|p.I35_K170del(1)|p.Y30_A97del(1)|p.V22_T102del(1)|p.A20_A80del(1)|p.V22_S71>A(1)|p.Q28_A43del(1)|p.A5_T59del(1)|p.M1_V173del(1)|p.E15_I140>V(1)|p.H24_M131del(1)|p.A21_A80del(1)|p.A5_T40del(1)|p.A5_E54del(1)|p.M8_A80del(1)|p.P16_K133del(1)|p.V22_Y64del(1)|p.Q28_Q61del(1)|p.A20_S111del(1)|p.A39_T42del(1)|p.Y30_A80del(1)	CTNNB1/PLAG1(60)	NS(4)|adrenal_gland(103)|biliary_tract(43)|bone(21)|breast(7)|central_nervous_system(260)|cervix(9)|endometrium(293)|eye(1)|haematopoietic_and_lymphoid_tissue(60)|kidney(202)|large_intestine(269)|liver(1010)|lung(63)|oesophagus(6)|ovary(106)|pancreas(126)|parathyroid(11)|pituitary(111)|pleura(2)|prostate(31)|salivary_gland(13)|skin(103)|small_intestine(17)|soft_tissue(792)|stomach(165)|thyroid(55)|upper_aerodigestive_tract(2)|urinary_tract(8)	3893				KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294)		TGGTGCCACTACCACAGCTCC	0.507	T41A(CCK81_LARGE_INTESTINE)	15	"H, Mis, T"	PLAG1	"colorectal, cvarian,  hepatoblastoma, others, pleomorphic salivary adenoma"				Pilomatrixoma, Familial Clustering of																												Colon(6;3 56 14213 18255)	ENST00000349496.5	T41A(CCK81_LARGE_INTESTINE)	15		Dom	yes		3	3p22-p21.3	1499	"H, Mis, T"	"catenin (cadherin-associated protein), beta 1"			"E, M, O"	PLAG1		"colorectal, cvarian,  hepatoblastoma, others, pleomorphic salivary adenoma"	CTNNB1/PLAG1(60)	681	Substitution - Missense(559)|Deletion - In frame(96)|Complex - deletion inframe(17)|Unknown(7)|Deletion - Frameshift(2)	p.T41A(550)|p.A5_A80del(53)|p.A5_Q143del(7)|p.A5_A80>D(7)|p.T41P(6)|p.Q28_H134del(5)|p.?(4)|p.W25_I140del(3)|p.T41S(3)|p.T3_A126del(2)|p.A5fs*7(2)|p.D32_S47del(2)|p.M5_N141>D(2)|p.L10_N141del(2)|p.A5_Y142>D(2)|p.A5_Q143>E(1)|p.S37_G48>C(1)|p.A13_R151del(1)|p.H36_E53>L(1)|p.M14_S45del(1)|p.T40_L46del(1)|p.A20_N141del(1)|p.T41_N51del(1)|p.M1_A87del(1)|p.D11_Y142>H(1)|p.I35_T41del(1)|p.I35_K170del(1)|p.Y30_A97del(1)|p.V22_T102del(1)|p.A20_A80del(1)|p.V22_S71>A(1)|p.Q28_A43del(1)|p.A5_T59del(1)|p.M1_V173del(1)|p.E15_I140>V(1)|p.H24_M131del(1)|p.A21_A80del(1)|p.A5_T40del(1)|p.A5_E54del(1)|p.M8_A80del(1)|p.P16_K133del(1)|p.V22_Y64del(1)|p.Q28_Q61del(1)|p.A20_S111del(1)|p.A39_T42del(1)|p.Y30_A80del(1)	soft_tissue(387)|liver(158)|large_intestine(61)|endometrium(17)|kidney(11)|stomach(8)|biliary_tract(7)|ovary(6)|small_intestine(4)|lung(4)|prostate(4)|adrenal_gland(3)|haematopoietic_and_lymphoid_tissue(3)|skin(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|salivary_gland(1)|pituitary(1)|pancreas(1)	NS(4)|adrenal_gland(103)|biliary_tract(43)|bone(21)|breast(7)|central_nervous_system(260)|cervix(9)|endometrium(293)|eye(1)|haematopoietic_and_lymphoid_tissue(60)|kidney(202)|large_intestine(269)|liver(1010)|lung(63)|oesophagus(6)|ovary(106)|pancreas(126)|parathyroid(11)|pituitary(111)|pleura(2)|prostate(31)|salivary_gland(13)|skin(103)|small_intestine(17)|soft_tissue(792)|stomach(165)|thyroid(55)|upper_aerodigestive_tract(2)|urinary_tract(8)	3893						c.(121-123)Acc>Gcc		catenin (cadherin-associated protein), beta 1, 88kDa	Lithium(DB01356)						89	77	81					3																	41266124		2203	4300	6503	SO:0001583	missense	1499	Pilomatrixoma, Familial Clustering of	Familial Cancer Database	Pilomatricoma, Familial Clustering of, Epithelioma Calcificans of Malherbe	adherens junction assembly|androgen receptor signaling pathway|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway involved in negative regulation of apoptosis|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell-cell adhesion|cell-matrix adhesion|cellular component disassembly involved in apoptosis|cellular response to growth factor stimulus|cellular response to indole-3-methanol|central nervous system vasculogenesis|cytoskeletal anchoring at plasma membrane|determination of dorsal/ventral asymmetry|dorsal/ventral axis specification|ectoderm development|embryonic axis specification|embryonic foregut morphogenesis|embryonic leg joint morphogenesis|endodermal cell fate commitment|endothelial tube morphogenesis|epithelial to mesenchymal transition|gastrulation with mouth forming second|glial cell fate determination|hair follicle morphogenesis|hair follicle placode formation|hindbrain development|liver development|lung cell differentiation|lung induction|lung-associated mesenchyme development|male genitalia development|mesenchymal cell proliferation involved in lung development|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of osteoclast differentiation|negative regulation of transcription from RNA polymerase II promoter|nephron tubule formation|odontogenesis of dentine-containing tooth|oocyte development|pancreas development|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of branching involved in lung morphogenesis|positive regulation of epithelial cell proliferation involved in prostate gland development|positive regulation of fibroblast growth factor receptor signaling pathway|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of muscle cell differentiation|positive regulation of osteoblast differentiation|positive regulation of transcription from RNA polymerase II promoter|protein localization at cell surface|proximal/distal pattern formation|regulation of angiogenesis|regulation of calcium ion import|regulation of centriole-centriole cohesion|regulation of centromeric sister chromatid cohesion|regulation of fibroblast proliferation|regulation of nephron tubule epithelial cell differentiation|regulation of protein localization at cell surface|regulation of smooth muscle cell proliferation|regulation of T cell proliferation|renal inner medulla development|renal outer medulla development|renal vesicle formation|response to drug|response to estradiol stimulus|Schwann cell proliferation|smooth muscle cell differentiation|synapse organization|synaptic vesicle transport|T cell differentiation in thymus|thymus development|trachea formation	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin-TCF7L2 complex|catenin complex|cell cortex|cell-substrate adherens junction|centrosome|dendritic shaft|desmosome|fascia adherens|internal side of plasma membrane|lamellipodium|lateral plasma membrane|microvillus membrane|perinuclear region of cytoplasm|protein-DNA complex|synapse|transcription factor complex|Z disc|zonula adherens	alpha-catenin binding|androgen receptor binding|cadherin binding|estrogen receptor binding|I-SMAD binding|ion channel binding|protein binding|protein C-terminus binding|protein kinase binding|protein phosphatase binding|R-SMAD binding|RPTP-like protein binding|signal transducer activity|specific RNA polymerase II transcription factor activity|structural molecule activity|transcription coactivator activity|transcription regulatory region DNA binding	g.chr3:41266124A>G	X87838	CCDS2694.1	3p21	2013-02-15	2002-08-29		ENSG00000168036	ENSG00000168036		"Armadillo repeat containing"	2514	protein-coding gene	gene with protein product		116806	"catenin (cadherin-associated protein), beta 1 (88kD)"	CTNNB		7829088	Standard	NM_001098210		Approved	beta-catenin, armadillo	uc003ckr.2	P35222	OTTHUMG00000131393	ENST00000349496.5:c.121A>G	3.37:g.41266124A>G	ENSP00000344456:p.Thr41Ala					CTNNB1_ENST00000405570.1_Missense_Mutation_p.T41A|CTNNB1_ENST00000396185.3_Missense_Mutation_p.T41A|CTNNB1_ENST00000453024.1_Missense_Mutation_p.T34A|CTNNB1_ENST00000396183.3_Missense_Mutation_p.T41A	p.T41A	NM_001904.3	NP_001895.1	P35222	CTNB1_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294)	3	401	+			41		T -> A (in hepatoblastoma and hepatocellular carcinoma; also in a desmoid tumor; strongly reduces phosphorylation and degradation; abolishes phosphorylation on Ser-33 and Ser-37 and enhances transactivation of target genes).|T -> I (in PTR, hepatocellular carcinoma and ovarian cancer).			A8K1L7|Q8NEW9|Q8NI94|Q9H391	Missense_Mutation	SNP	ENST00000349496.5	37	c.121A>G	CCDS2694.1	.	.	.	.	.	.	.	.	.	.	A	23.7	4.449381	0.84101	.	.	ENSG00000168036	ENST00000426215;ENST00000405570;ENST00000431914;ENST00000396183;ENST00000349496;ENST00000453024;ENST00000396185;ENST00000450969;ENST00000441708	T;T;T;T;T;T;T;T;T	0.48201	0.82;0.82;0.82;0.82;0.82;0.82;0.82;0.82;0.82	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	T	0.63117	0.2484	M	0.79258	2.445	0.80722	D	1	P	0.50943	0.94	P	0.52267	0.694	T	0.68561	-0.5376	10	0.87932	D	0	-8.9189	16.3453	0.83126	1.0:0.0:0.0:0.0	.	41	P35222	CTNB1_HUMAN	A	34;41;41;41;41;34;41;41;41	ENSP00000400508:T34A;ENSP00000385604:T41A;ENSP00000412219:T41A;ENSP00000379486:T41A;ENSP00000344456:T41A;ENSP00000411226:T34A;ENSP00000379488:T41A;ENSP00000409302:T41A;ENSP00000401599:T41A	ENSP00000344456:T41A	T	+	1	0	CTNNB1	41241128	1.000000	0.71417	0.994000	0.49952	0.993000	0.82548	9.339000	0.96797	2.261000	0.74972	0.533000	0.62120	ACC		0.507	CTNNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254182.2	NM_001098210		16	39	0	0	0	1	0	16	39					G	41266124	A	G	41266124	3	3	119	1	0	0	0	0	1	0	0	0	4016	391	14	4	127	4	CTNNB1	3	41266124	Missense_Mutation	SNP	A	TCGA-EJ-A65D-01A-11D-A30E-08	2038764	41266124	156756306	8	6258											
TRAK1	22906	broad.mit.edu	37	chr3	42230557	42230557	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tccagaattactttcatttgGattctcttcaaaagaagctg	12	15	6	8	0	3	2	2	0	1	2	5	3	4	3	1	1	2	1	1	1	5	5	rs371843104		TCGA-EJ-A65D-01A-11D-A30E-08	TCGA-EJ-A65D-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	955a7101-36b0-4d1d-bd5b-0ab6e3adba5b	aa7b8960-9246-483f-a43b-9366501ee804	g.chr3:42230557G>A	ENST00000327628.5	+	6	1031	c.631G>A	c.(631-633)Gat>Aat	p.D211N	TRAK1_ENST00000449246.1_Missense_Mutation_p.D137N|TRAK1_ENST00000341421.3_Missense_Mutation_p.D153N|TRAK1_ENST00000487159.1_3'UTR|TRAK1_ENST00000396175.1_Missense_Mutation_p.D153N	NM_001042646.2	NP_001036111.1	Q9UPV9	TRAK1_HUMAN	trafficking protein, kinesin binding 1	211	HAP1 N-terminal.				endosome to lysosome transport (GO:0008333)|protein O-linked glycosylation (GO:0006493)|protein targeting (GO:0006605)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|mitochondrion (GO:0005739)|nucleus (GO:0005634)				central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	22						CTTTCATTTGGATTCTCTTCA	0.498																																					GBM(44;195 884 22595 31865 41850)	ENST00000327628.5																			0				central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	22						c.(631-633)Gat>Aat		trafficking protein, kinesin binding 1							107	96	100					3																	42230557		2203	4300	6503	SO:0001583	missense	22906				endosome to lysosome transport|protein O-linked glycosylation|protein targeting|regulation of transcription from RNA polymerase II promoter	early endosome|mitochondrion|nucleus		g.chr3:42230557G>A		CCDS2695.1, CCDS43072.1, CCDS58826.1, CCDS74922.1	3p22.1	2012-03-05			ENSG00000182606	ENSG00000182606			29947	protein-coding gene	gene with protein product	"OGT(O Glc NAc transferase) interacting protein 106 KDa", "O-linked N-acetylglucosamine transferase interacting protein 106", "milton homolog 1 (Drosophila)"	608112				10470851, 12435728, 16380713, 20230862	Standard	NM_014965		Approved	OIP106, KIAA1042, MILT1	uc003cky.4	Q9UPV9	OTTHUMG00000131795	ENST00000327628.5:c.631G>A	3.37:g.42230557G>A	ENSP00000328998:p.Asp211Asn					TRAK1_ENST00000449246.1_Missense_Mutation_p.D137N|TRAK1_ENST00000341421.3_Missense_Mutation_p.D153N|TRAK1_ENST00000487159.1_3'UTR|TRAK1_ENST00000396175.1_Missense_Mutation_p.D153N	p.D211N	NM_001042646.2	NP_001036111.1	Q9UPV9	TRAK1_HUMAN			6	1031	+			211			HAP1 N-terminal.		E9PDS2|J3KNT7|Q63HR0|Q659B5|Q96B69	Missense_Mutation	SNP	ENST00000327628.5	37	c.631G>A	CCDS43072.1	.	.	.	.	.	.	.	.	.	.	G	35	5.596097	0.96602	.	.	ENSG00000182606	ENST00000327628;ENST00000543338;ENST00000449246;ENST00000396175;ENST00000341421	T;T;T;T	0.19250	2.16;2.16;2.16;2.16	5.6	5.6	0.85130	.	0.000000	0.85682	D	0.000000	T	0.47322	0.1439	M	0.71206	2.165	0.80722	D	1	D;D;D;D;D;D	0.89917	0.98;0.989;0.991;0.976;0.993;1.0	P;P;D;P;D;D	0.68765	0.721;0.871;0.912;0.6;0.928;0.96	T	0.40515	-0.9559	10	0.59425	D	0.04	.	18.6088	0.91276	0.0:0.0:1.0:0.0	.	137;153;211;153;137;211	B7Z218;C9JC32;B7Z347;Q9UPV9-2;E9PDS2;Q9UPV9	.;.;.;.;.;TRAK1_HUMAN	N	211;211;137;153;153	ENSP00000328998:D211N;ENSP00000410717:D137N;ENSP00000379478:D153N;ENSP00000340702:D153N	ENSP00000328998:D211N	D	+	1	0	TRAK1	42205561	1.000000	0.71417	0.993000	0.49108	0.984000	0.73092	7.477000	0.81069	2.624000	0.88883	0.643000	0.83706	GAT		0.498	TRAK1-004	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343413.1	NM_014965		5	44	0	0	0	1	0	5	44					A	42230557	G	A	42230557	3	1	119	1	0	0	0	0	1	0	0	0	16446	1174	41	3	769	3	TRAK1	3	42230557	Missense_Mutation	SNP	G	TCGA-EJ-A65D-01A-11D-A30E-08	964433	42230557	155791873	9	6259											
PROS1	5627	broad.mit.edu	37	chr3	93646150	93646150	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttctttattgcacagttcttCgatgcattctctttcaagat	8	19	5	9	1	4	1	1	0	3	1	6	2	4	1	0	0	2	3	0	0	2	8			TCGA-EJ-A65D-01A-11D-A30E-08	TCGA-EJ-A65D-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	955a7101-36b0-4d1d-bd5b-0ab6e3adba5b	aa7b8960-9246-483f-a43b-9366501ee804	g.chr3:93646150C>T	ENST00000394236.3	-	2	494	c.178G>A	c.(178-180)Gaa>Aaa	p.E60K	PROS1_ENST00000407433.1_5'UTR	NM_000313.3	NP_000304.2	P07225	PROS_HUMAN	protein S (alpha)	60	Gla. {ECO:0000255|PROSITE- ProRule:PRU00463}.				blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|fibrinolysis (GO:0042730)|innate immune response (GO:0045087)|leukocyte migration (GO:0050900)|negative regulation of endopeptidase activity (GO:0010951)|peptidyl-glutamic acid carboxylation (GO:0017187)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|post-translational protein modification (GO:0043687)|proteolysis (GO:0006508)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|Golgi membrane (GO:0000139)|platelet alpha granule lumen (GO:0031093)	calcium ion binding (GO:0005509)|endopeptidase inhibitor activity (GO:0004866)			endometrium(3)|kidney(5)|large_intestine(8)|lung(26)|ovary(1)|skin(2)|urinary_tract(1)	46					Drotrecogin alfa(DB00055)|Menadione(DB00170)|Sodium Tetradecyl Sulfate(DB00464)	CACAGTTCTTCGATGCATTCT	0.408																																						ENST00000394236.3																			0				endometrium(3)|kidney(5)|large_intestine(8)|lung(26)|ovary(1)|skin(2)|urinary_tract(1)	46	GRCh37	CM971241	PROS1	M		c.(178-180)Gaa>Aaa		protein S (alpha)	Antihemophilic Factor(DB00025)|Drotrecogin alfa(DB00055)|Menadione(DB00170)						110	106	107					3																	93646150		2203	4300	6503	SO:0001583	missense	5627				leukocyte migration|peptidyl-glutamic acid carboxylation|platelet activation|platelet degranulation|post-translational protein modification|proteolysis	endoplasmic reticulum membrane|extracellular region|Golgi lumen|Golgi membrane|platelet alpha granule lumen	calcium ion binding|endopeptidase inhibitor activity	g.chr3:93646150C>T		CCDS2923.1	3q11.1	2013-06-03			ENSG00000184500	ENSG00000184500			9456	protein-coding gene	gene with protein product		176880		PROS		214811, 1833851	Standard	NM_000313		Approved		uc003drb.4	P07225	OTTHUMG00000150354	ENST00000394236.3:c.178G>A	3.37:g.93646150C>T	ENSP00000377783:p.Glu60Lys					PROS1_ENST00000407433.1_5'UTR	p.E60K	NM_000313.3	NP_000304.2	P07225	PROS_HUMAN			2	494	-			60			Gla.		A8KAC9|D3DN28|Q15518|Q7Z715|Q9UCZ8	Missense_Mutation	SNP	ENST00000394236.3	37	c.178G>A	CCDS2923.1	.	.	.	.	.	.	.	.	.	.	C	33	5.255722	0.95336	.	.	ENSG00000184500	ENST00000394236;ENST00000348974	D;D	0.99586	-6.23;-6.23	4.53	4.53	0.55603	Gamma-carboxyglutamic acid-rich (GLA) domain (6);Coagulation factor, subgroup, Gla domain (1);	0.185695	0.46758	D	0.000266	D	0.99750	0.9900	H	0.95539	3.685	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.97061	0.9771	10	0.87932	D	0	.	17.4197	0.87511	0.0:1.0:0.0:0.0	.	60	P07225	PROS_HUMAN	K	60;92	ENSP00000377783:E60K;ENSP00000330021:E92K	ENSP00000330021:E92K	E	-	1	0	PROS1	95128840	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	7.004000	0.76317	2.513000	0.84729	0.448000	0.29417	GAA		0.408	PROS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317762.1	NM_000313		32	36	0	0	0	1	0	32	36					T	93646150	C	T	93646150	3	4	119	1	0	0	0	0	1	0	0	0	12558	893	31	2	1908	2	PROS1	3	93646150	Missense_Mutation	SNP	C	TCGA-EJ-A65D-01A-11D-A30E-08	51415593	93646150	104376280	10	6260											
STXBP5L	9515	broad.mit.edu	37	chr3	120969598	120969598	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	atggatcaataaaattttggGatgcttctgcaagtaagttt	13	15	9	4	0	2	0	1	0	1	0	2	2	2	2	0	2	2	4	0	2	5	6			TCGA-EJ-A65D-01A-11D-A30E-08	TCGA-EJ-A65D-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	955a7101-36b0-4d1d-bd5b-0ab6e3adba5b	aa7b8960-9246-483f-a43b-9366501ee804	g.chr3:120969598G>A	ENST00000273666.6	+	15	1700	c.1429G>A	c.(1429-1431)Gat>Aat	p.D477N	STXBP5L_ENST00000497029.1_Missense_Mutation_p.D477N|STXBP5L_ENST00000471454.1_Missense_Mutation_p.D477N|STXBP5L_ENST00000492541.1_Missense_Mutation_p.D477N|STXBP5L_ENST00000472879.1_Missense_Mutation_p.D477N	NM_014980.2	NP_055795.1	Q9Y2K9	STB5L_HUMAN	syntaxin binding protein 5-like	477					exocytosis (GO:0006887)|glucose homeostasis (GO:0042593)|negative regulation of insulin secretion (GO:0046676)|positive regulation of protein secretion (GO:0050714)|protein transport (GO:0015031)|regulation of exocytosis (GO:0017157)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				GBM - Glioblastoma multiforme(114;0.0694)		AAAATTTTGGGATGCTTCTGC	0.289																																						ENST00000273666.6																			0				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68						c.(1429-1431)Gat>Aat		syntaxin binding protein 5-like							56	53	54					3																	120969598		1794	4068	5862	SO:0001583	missense	9515				exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane		g.chr3:120969598G>A	AB023223	CCDS43137.1	3q13.33-q21.1	2013-01-10			ENSG00000145087	ENSG00000145087		"WD repeat domain containing"	30757	protein-coding gene	gene with protein product		609381				10231032, 14767561	Standard	NM_014980		Approved	KIAA1006, LLGL4	uc003eec.4	Q9Y2K9	OTTHUMG00000159426	ENST00000273666.6:c.1429G>A	3.37:g.120969598G>A	ENSP00000273666:p.Asp477Asn					STXBP5L_ENST00000471454.1_Missense_Mutation_p.D477N|STXBP5L_ENST00000472879.1_Missense_Mutation_p.D477N|STXBP5L_ENST00000492541.1_Missense_Mutation_p.D477N|STXBP5L_ENST00000497029.1_Missense_Mutation_p.D477N	p.D477N	NM_014980.2	NP_055795.1	Q9Y2K9	STB5L_HUMAN		GBM - Glioblastoma multiforme(114;0.0694)	15	1700	+			477					Q4G1B4|Q6PIC3	Missense_Mutation	SNP	ENST00000273666.6	37	c.1429G>A	CCDS43137.1	.	.	.	.	.	.	.	.	.	.	G	28.1	4.889190	0.91889	.	.	ENSG00000145087	ENST00000273666;ENST00000471454;ENST00000472879;ENST00000497029;ENST00000492541;ENST00000471262	T;T;T;T;T;T	0.68025	-0.3;-0.3;-0.3;-0.3;-0.3;-0.3	4.63	4.63	0.57726	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (2);WD40 repeat, conserved site (1);	0.000000	0.85682	D	0.000000	T	0.81302	0.4794	M	0.80183	2.485	0.80722	D	1	D;D	0.58268	0.982;0.982	P;P	0.62014	0.897;0.897	D	0.84025	0.0356	10	0.59425	D	0.04	-14.3536	17.6829	0.88249	0.0:0.0:1.0:0.0	.	477;477	E9PFI2;Q9Y2K9	.;STB5L_HUMAN	N	477	ENSP00000273666:D477N;ENSP00000420019:D477N;ENSP00000419627:D477N;ENSP00000420287:D477N;ENSP00000420666:D477N;ENSP00000420167:D477N	ENSP00000273666:D477N	D	+	1	0	STXBP5L	122452288	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.158000	0.94723	2.409000	0.81822	0.650000	0.86243	GAT		0.289	STXBP5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355256.3			9	9	0	0	0	1	0	9	9					A	120969598	G	A	120969598	3	1	119	1	0	0	0	0	1	0	0	0	15356	1174	41	3	1483	3	STXBP5L	3	120969598	Missense_Mutation	SNP	G	TCGA-EJ-A65D-01A-11D-A30E-08	27323448	120969598	77052832	11	6261											
PIK3CA	5290	broad.mit.edu	37	chr3	178916876	178916876	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	attttttgatgaaacaagacGactttgtgaccttcggcttt	10	16	8	7	2	0	4	0	3	0	1	1	5	0	4	1	1	1	1	1	1	2	6	rs121913287		TCGA-EJ-A65D-01A-11D-A30E-08	TCGA-EJ-A65D-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	955a7101-36b0-4d1d-bd5b-0ab6e3adba5b	aa7b8960-9246-483f-a43b-9366501ee804	g.chr3:178916876G>A	ENST00000263967.3	+	2	420	c.263G>A	c.(262-264)cGa>cAa	p.R88Q		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	88	PI3K-ABD. {ECO:0000255|PROSITE- ProRule:PRU00877}.		R -> Q (in MCAP; also found in a glioblastoma multiforme sample; may disrupt the interaction between the PI3K- ABD domain and the N-terminal lobe of PI3K/PI4K kinase domain possibly affecting the conformation of the kinase domain). {ECO:0000269|PubMed:15924253, ECO:0000269|PubMed:22729224}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.R88Q(53)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	GAAACAAGACGACTTTGTGAC	0.363	R88Q(JHUEM1_ENDOMETRIUM)|R88Q(SKUT1_SOFT_TISSUE)|R88Q(SNGM_ENDOMETRIUM)	57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	ENST00000263967.3	R88Q(JHUEM1_ENDOMETRIUM)|R88Q(SKUT1_SOFT_TISSUE)|R88Q(SNGM_ENDOMETRIUM)	57		Dom	yes		3	3q26.3	5290	Mis	"phosphoinositide-3-kinase, catalytic, alpha polypeptide"			"E, O"			"colorectal, gastric, gliobastoma, breast"		53	Substitution - Missense(53)	p.R88Q(53)	endometrium(27)|large_intestine(13)|central_nervous_system(8)|cervix(3)|soft_tissue(1)|breast(1)	NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269						c.(262-264)cGa>cAa		phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha							107	102	104					3																	178916876		1821	4078	5899	SO:0001583	missense	5290				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	g.chr3:178916876G>A		CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"phosphoinositide-3-kinase, catalytic, alpha polypeptide"			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.263G>A	3.37:g.178916876G>A	ENSP00000263967:p.Arg88Gln	HNSCC(19;0.045)|TSP Lung(28;0.18)					p.R88Q	NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		2	420	+	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		88		R -> Q (in cancer; may disrupt the interaction between the PI3K-ABD domain and the N-terminal lobe of PI3K/PI4K kinase domain possibly affecting the conformation of the kinase domain).	PI3K-ABD.		Q14CW1|Q99762	Missense_Mutation	SNP	ENST00000263967.3	37	c.263G>A	CCDS43171.1	.	.	.	.	.	.	.	.	.	.	G	29.0	4.971870	0.92919	.	.	ENSG00000121879	ENST00000263967;ENST00000468036	T;T	0.80033	-1.33;-1.33	5.44	5.44	0.79542	Phosphatidylinositol 3-kinase, p85-binding (2);	0.000000	0.85682	D	0.000000	D	0.89079	0.6613	M	0.72353	2.195	0.80722	D	1	D	0.89917	1.0	D	0.70935	0.971	D	0.88404	0.3017	9	.	.	.	-14.8194	19.2635	0.93977	0.0:0.0:1.0:0.0	.	88	P42336	PK3CA_HUMAN	Q	88	ENSP00000263967:R88Q;ENSP00000417479:R88Q	.	R	+	2	0	PIK3CA	180399570	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.571000	0.82399	2.547000	0.85894	0.555000	0.69702	CGA		0.363	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2			53	58	0	0	0	1	0	53	58					A	178916876	G	A	178916876	3	1	119	1	0	0	0	0	1	0	0	0	11913	1058	37	2	265	2	PIK3CA	3	178916876	Missense_Mutation	SNP	G	TCGA-EJ-A65D-01A-11D-A30E-08	57947278	178916876	19105554	12	6262											
CCDC39	339829	broad.mit.edu	37	chr3	180359980	180359980	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttaaaagattgtcctctaTcatcaaatcctatcaacgta	14	15	3	9	1	4	1	3	0	1	1	6	1	6	1	2	0	1	1	2	0	7	6			TCGA-EJ-A65D-01A-11D-A30E-08	TCGA-EJ-A65D-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	955a7101-36b0-4d1d-bd5b-0ab6e3adba5b	aa7b8960-9246-483f-a43b-9366501ee804	g.chr3:180359980T>A	ENST00000442201.2	-	13	1794	c.1675A>T	c.(1675-1677)Ata>Tta	p.I559L	CCDC39_ENST00000273654.4_Missense_Mutation_p.I643L	NM_181426.1	NP_852091.1	Q9UFE4	CCD39_HUMAN	coiled-coil domain containing 39	559					axonemal dynein complex assembly (GO:0070286)|cilium-dependent cell motility (GO:0060285)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of liver left/right asymmetry (GO:0071910)|determination of pancreatic left/right asymmetry (GO:0035469)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|heart looping (GO:0001947)|lung development (GO:0030324)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)				NS(1)|breast(1)|endometrium(4)|large_intestine(9)|lung(22)|ovary(6)|prostate(2)	45	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)			TTGTCCTCTATCATCAAATCC	0.279																																						ENST00000273654.4																			0				NS(1)|breast(1)|endometrium(4)|large_intestine(9)|lung(22)|ovary(6)|prostate(2)	45						c.(1927-1929)Ata>Tta		coiled-coil domain containing 39							79	65	69					3																	180359980		1807	4073	5880	SO:0001583	missense	339829				axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium axoneme|cytoplasm|cytoskeleton		g.chr3:180359980T>A	BC047103	CCDS46964.1	3q26.33	2012-07-27			ENSG00000145075	ENSG00000145075			25244	protein-coding gene	gene with protein product		613798				21131972	Standard	NM_181426		Approved	DKFZp434A128, CILD14, FAP59	uc010hxe.3	Q9UFE4	OTTHUMG00000157857	ENST00000442201.2:c.1675A>T	3.37:g.180359980T>A	ENSP00000405708:p.Ile559Leu					CCDC39_ENST00000442201.2_Missense_Mutation_p.I559L	p.I643L			Q9UFE4	CCD39_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)		19	2546	-	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		559					B4E2H1	Missense_Mutation	SNP	ENST00000442201.2	37	c.1927A>T	CCDS46964.1	.	.	.	.	.	.	.	.	.	.	T	17.17	3.320410	0.60634	.	.	ENSG00000145075	ENST00000273654;ENST00000442201	T;T	0.22539	1.95;1.95	5.06	5.06	0.68205	.	0.111023	0.64402	D	0.000011	T	0.27697	0.0681	M	0.70595	2.14	0.29683	N	0.841546	P	0.48764	0.915	P	0.48952	0.596	T	0.13926	-1.0491	10	0.16896	T	0.51	-22.2569	7.8913	0.29680	0.0:0.1591:0.0:0.8408	.	559	Q9UFE4	CCD39_HUMAN	L	643;559	ENSP00000273654:I643L;ENSP00000405708:I559L	ENSP00000273654:I643L	I	-	1	0	CCDC39	181842674	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	1.379000	0.34340	2.033000	0.60031	0.472000	0.43445	ATA		0.279	CCDC39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349783.3	XM_291028		7	14	0	0	0	1	0	7	14					A	180359980	T	A	180359980	3	1	119	1	0	0	0	0	1	0	0	0	2811	1435	50	5	1182	5	CCDC39	3	180359980	Missense_Mutation	SNP	T	TCGA-EJ-A65D-01A-11D-A30E-08	1443104	180359980	17662450	13	6263											
PCDHB6	56130	broad.mit.edu	37	chr5	140531513	140531513	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaacgacaactcgcccttcGtgttgtacccgctgcagaac	9	8	8	16	4	0	1	0	0	0	1	2	2	0	1	3	0	5	4	3	0	4	3			TCGA-EJ-A65D-01A-11D-A30E-08	TCGA-EJ-A65D-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	955a7101-36b0-4d1d-bd5b-0ab6e3adba5b	aa7b8960-9246-483f-a43b-9366501ee804	g.chr5:140531513G>A	ENST00000231136.1	+	1	1675	c.1675G>A	c.(1675-1677)Gtg>Atg	p.V559M	PCDHB6_ENST00000543635.1_Missense_Mutation_p.V423M	NM_018939.2	NP_061762.1	Q9Y5E3	PCDB6_HUMAN	protocadherin beta 6	559	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.V559M(1)		cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CTCGCCCTTCGTGTTGTACCC	0.721																																						ENST00000231136.1																			1	Substitution - Missense(1)	p.V559M(1)	lung(1)	cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84						c.(1675-1677)Gtg>Atg									28	35	33					5																	140531513		2199	4296	6495	SO:0001583	missense	0				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	g.chr5:140531513G>A	AF152499	CCDS4248.1	5q31	2010-01-26			ENSG00000113211	ENSG00000113211		"Cadherins / Protocadherins : Clustered"	8691	other	protocadherin		606332				10380929	Standard	NM_018939		Approved	PCDH-BETA6	uc003lir.3	Q9Y5E3	OTTHUMG00000129623	ENST00000231136.1:c.1675G>A	5.37:g.140531513G>A	ENSP00000231136:p.Val559Met					PCDHB6_ENST00000543635.1_Missense_Mutation_p.V423M	p.V559M	NM_018939.2	NP_061762.1	Q9Y5E3	PCDB6_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1675	+			559			Cadherin 5.		B2R8R9	Missense_Mutation	SNP	ENST00000231136.1	37	c.1675G>A	CCDS4248.1	.	.	.	.	.	.	.	.	.	.	G	16.44	3.125280	0.56721	.	.	ENSG00000113211	ENST00000543635;ENST00000231136	T;T	0.20738	2.05;2.05	4.19	4.19	0.49359	Cadherin (2);Cadherin-like (1);	.	.	.	.	T	0.43700	0.1259	M	0.83953	2.67	0.30620	N	0.758587	D	0.89917	1.0	D	0.68192	0.956	T	0.50608	-0.8808	9	0.87932	D	0	.	5.8246	0.18546	0.0988:0.0:0.6498:0.2513	.	559	Q9Y5E3	PCDB6_HUMAN	M	423;559	ENSP00000438466:V423M;ENSP00000231136:V559M	ENSP00000231136:V559M	V	+	1	0	PCDHB6	140511697	0.109000	0.22037	1.000000	0.80357	0.994000	0.84299	0.604000	0.24164	2.047000	0.60756	0.556000	0.70494	GTG		0.721	PCDHB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251818.2	NM_018939		96	79	0	0	0	1	0	96	79					A	140531513	G	A	140531513	3	1	119	1	0	0	0	0	1	0	0	0	11546	1145	40	1	1677	1	PCDHB6	5	140531513	Missense_Mutation	SNP	G	TCGA-EJ-A65D-01A-11D-A30E-08		140531513	40383747	14	6264											
SIM1	6492	broad.mit.edu	37	chr6	100895289	100895289	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggtcacctgtcccttcaccaGcactgacggagagacaggag	10	6	12	13	1	2	2	2	1	0	1	3	5	3	4	3	3	1	1	3	3	0	1			TCGA-EJ-A65D-01A-11D-A30E-08	TCGA-EJ-A65D-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	955a7101-36b0-4d1d-bd5b-0ab6e3adba5b	aa7b8960-9246-483f-a43b-9366501ee804	g.chr6:100895289G>T	ENST00000369208.3	-	9	1635	c.853C>A	c.(853-855)Ctg>Atg	p.L285M	SIM1_ENST00000262901.4_Missense_Mutation_p.L285M			P81133	SIM1_HUMAN	single-minded family bHLH transcription factor 1	285	PAS 2. {ECO:0000255|PROSITE- ProRule:PRU00140}.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)|ureteric bud development (GO:0001657)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	79		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0774)		CCCTTCACCAGCACTGACGGA	0.597																																						ENST00000369208.3																			0				breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	79						c.(853-855)Ctg>Atg		single-minded family bHLH transcription factor 1							112	87	95					6																	100895289		2203	4300	6503	SO:0001583	missense	6492				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr6:100895289G>T	U70212	CCDS5045.1	6q16.3	2013-10-17	2013-10-17		ENSG00000112246	ENSG00000112246		"Basic helix-loop-helix proteins"	10882	protein-coding gene	gene with protein product		603128	"single-minded (Drosophila) homolog 1", "single-minded homolog 1 (Drosophila)"			9199934, 11448938	Standard	NM_005068		Approved	bHLHe14	uc003pqj.4	P81133	OTTHUMG00000015275	ENST00000369208.3:c.853C>A	6.37:g.100895289G>T	ENSP00000358210:p.Leu285Met					SIM1_ENST00000262901.4_Missense_Mutation_p.L285M	p.L285M			P81133	SIM1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0774)	9	1635	-		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)	285			PAS 2.		Q5TDP7	Missense_Mutation	SNP	ENST00000369208.3	37	c.853C>A	CCDS5045.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.335528	0.81801	.	.	ENSG00000112246	ENST00000369208;ENST00000262901	T;T	0.22539	1.95;1.95	6.02	5.14	0.70334	PAS fold-3 (1);PAS (1);	0.000000	0.85682	D	0.000000	T	0.29817	0.0745	L	0.49126	1.545	0.80722	D	1	D	0.76494	0.999	D	0.73380	0.98	T	0.07139	-1.0788	10	0.66056	D	0.02	.	14.3925	0.66989	0.0713:0.0:0.9287:0.0	.	285	P81133	SIM1_HUMAN	M	285	ENSP00000358210:L285M;ENSP00000262901:L285M	ENSP00000262901:L285M	L	-	1	2	SIM1	101002010	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.185000	0.58330	1.533000	0.49186	0.655000	0.94253	CTG		0.597	SIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041628.3	NM_005068		7	46	1	0	5.18039e-06	1	5.26673e-06	7	46					T	100895289	G	T	100895289	3	4	119	1	0	0	0	0	1	0	0	0	14323	962	34	5	1463	5	SIM1	6	100895289	Missense_Mutation	SNP	G	TCGA-EJ-A65D-01A-11D-A30E-08		100895289	70219778	15	6265											
PCLO	27445	broad.mit.edu	37	chr7	82544135	82544135	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tggcttgatccaaactgatcCctggtgtctgcagatattgg	8	13	11	9	0	1	3	0	2	1	1	3	3	3	3	2	3	2	2	2	3	2	3			TCGA-EJ-A65D-01A-11D-A30E-08	TCGA-EJ-A65D-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	955a7101-36b0-4d1d-bd5b-0ab6e3adba5b	aa7b8960-9246-483f-a43b-9366501ee804	g.chr7:82544135C>T	ENST00000333891.9	-	7	13504	c.13167G>A	c.(13165-13167)agG>agA	p.R4389R	PCLO_ENST00000423517.2_Silent_p.R4389R|PCLO_ENST00000437081.1_Silent_p.R1109R	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein											breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						CAAACTGATCCCTGGTGTCTG	0.522																																						ENST00000423517.2																			0				breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						c.(13165-13167)agG>agA		piccolo presynaptic cytomatrix protein							88	91	90					7																	82544135		2052	4198	6250	SO:0001819	synonymous_variant	27445				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	g.chr7:82544135C>T	AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"aczonin"	604918	"piccolo (presynaptic cytomatrix protein)"			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.13167G>A	7.37:g.82544135C>T						PCLO_ENST00000333891.8_Silent_p.R4389R|PCLO_ENST00000437081.1_Silent_p.R1109R	p.R4389R	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN			7	13504	-			4320						Silent	SNP	ENST00000333891.9	37	c.13167G>A	CCDS47630.1																																																																																				0.522	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510		27	33	0	0	0	1	0	27	33					T	82544135	C	T	82544135	2	4	119	1	0	0	0	0	0	0	0	1	11583	622	22	3		3	PCLO	7	82544135	Silent	SNP	C	TCGA-EJ-A65D-01A-11D-A30E-08		82544135	76594528	16	6266											
ADCY8	114	broad.mit.edu	37	chr8	131861907	131861907	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgcaaagatgatgacgttccGggccaaataggtctcattaa	13	10	10	8	2	1	3	1	2	1	1	3	3	2	3	2	2	1	2	2	2	4	3			TCGA-EJ-A65D-01A-11D-A30E-08	TCGA-EJ-A65D-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	955a7101-36b0-4d1d-bd5b-0ab6e3adba5b	aa7b8960-9246-483f-a43b-9366501ee804	g.chr8:131861907G>A	ENST00000286355.5	-	10	4445	c.2353C>T	c.(2353-2355)Cgg>Tgg	p.R785W	ADCY8_ENST00000377928.3_Intron	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	785					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|learning or memory (GO:0007611)|long-term memory (GO:0007616)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			ATGACGTTCCGGGCCAAATAG	0.468										HNSCC(32;0.087)																												ENST00000286355.5																			0				NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						c.(2353-2355)Cgg>Tgg		adenylate cyclase 8 (brain)							127	119	122					8																	131861907		2203	4300	6503	SO:0001583	missense	114				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding	g.chr8:131861907G>A	Z35309	CCDS6363.1	8q24	2013-02-04			ENSG00000155897	ENSG00000155897	4.6.1.1	"Adenylate cyclases"	239	protein-coding gene	gene with protein product		103070		ADCY3		8076676	Standard	NM_001115		Approved	HBAC1, AC8	uc003ytd.4	P40145	OTTHUMG00000164756	ENST00000286355.5:c.2353C>T	8.37:g.131861907G>A	ENSP00000286355:p.Arg785Trp	HNSCC(32;0.087)				ADCY8_ENST00000377928.3_Intron	p.R785W	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000538)		10	4445	-	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		785						Missense_Mutation	SNP	ENST00000286355.5	37	c.2353C>T	CCDS6363.1	.	.	.	.	.	.	.	.	.	.	G	19.07	3.755090	0.69648	.	.	ENSG00000155897	ENST00000286355	T	0.57907	0.37	5.25	0.552	0.17230	.	0.112542	0.56097	D	0.000023	T	0.64940	0.2644	L	0.54323	1.7	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	T	0.67213	-0.5727	10	0.87932	D	0	.	13.87	0.63612	0.0:0.0:0.392:0.608	.	785	P40145	ADCY8_HUMAN	W	785	ENSP00000286355:R785W	ENSP00000286355:R785W	R	-	1	2	ADCY8	131931089	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.410000	0.34691	0.147000	0.19030	-0.181000	0.13052	CGG		0.468	ADCY8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380080.1			22	52	0	0	0	1	0	22	52					A	131861907	G	A	131861907	3	1	119	1	0	0	0	0	1	0	0	0	300	1115	39	2	1438	2	ADCY8	8	131861907	Missense_Mutation	SNP	G	TCGA-EJ-A65D-01A-11D-A30E-08		131861907	14502115	17	6267											
FLJ43860	389690	broad.mit.edu	37	chr8	142490102	142490102	+	RNA	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttttcagcttgaaggattaGcccatagtaggtaaacagga	13	12	10	6	0	1	1	1	1	0	0	1	3	1	3	1	3	3	3	1	3	6	7			TCGA-EJ-A65D-01A-11D-A30E-08	TCGA-EJ-A65D-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	955a7101-36b0-4d1d-bd5b-0ab6e3adba5b	aa7b8960-9246-483f-a43b-9366501ee804	g.chr8:142490102G>A	ENST00000430863.1	-	0	963					NM_207414.2	NP_997297.2	Q6ZUA9	MROH5_HUMAN	maestro heat-like repeat family member 5																		TGAAGGATTAGCCCATAGTAG	0.587																																						ENST00000430863.1																			0													maestro heat-like repeat family member 5							104	107	106					8																	142490102		2014	4192	6206			389690							g.chr8:142490102G>A			8q24.3	2012-12-20			ENSG00000226807	ENSG00000226807		"maestro heat-like repeat containing"	42976	protein-coding gene	gene with protein product							Standard	NM_207414		Approved	FLJ43860	uc003ywi.2	Q6ZUA9	OTTHUMG00000155944		8.37:g.142490102G>A								NM_207414.2	NP_997297.2					0	963	-									RNA	SNP	ENST00000430863.1	37																																																																																						0.587	MROH5-001	KNOWN	non_canonical_polymorphism|basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000342412.4	NM_207414		9	19	0	0	0	1	0	9	19					A	142490102	G	A	142490102	1	1	119	0	1	0	0	0	0	0	0	0	5930	962	34	3		3	FLJ43860	8	142490102	RNA	SNP	G	TCGA-EJ-A65D-01A-11D-A30E-08	10628195	142490102	3873920	18	6268											
OR5C1	392391	broad.mit.edu	37	chr9	125551979	125551979	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acagccgtggccatgatgtaCgggacactcattttcatgta	10	11	10	10	2	2	1	2	1	0	0	2	2	2	2	2	2	2	2	2	2	2	4	rs534083874	byFrequency	TCGA-EJ-A65D-01A-11D-A30E-08	TCGA-EJ-A65D-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	955a7101-36b0-4d1d-bd5b-0ab6e3adba5b	aa7b8960-9246-483f-a43b-9366501ee804	g.chr9:125551979C>T	ENST00000373680.2	+	1	830	c.768C>T	c.(766-768)taC>taT	p.Y256Y		NM_001001923.1	NP_001001923.1	Q8NGR4	OR5C1_HUMAN	olfactory receptor, family 5, subfamily C, member 1	256						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(1)|large_intestine(5)|lung(6)|pancreas(1)|prostate(5)|skin(1)	20						CCATGATGTACGGGACACTCA	0.602																																						ENST00000373680.2																			0				NS(1)|endometrium(1)|large_intestine(5)|lung(6)|pancreas(1)|prostate(5)|skin(1)	20						c.(766-768)taC>taT		olfactory receptor, family 5, subfamily C, member 1							96	80	85					9																	125551979		2203	4300	6503	SO:0001819	synonymous_variant	392391				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:125551979C>T	AF399514	CCDS35131.1	9q34.2	2012-08-09			ENSG00000148215	ENSG00000148215		"GPCR / Class A : Olfactory receptors"	8331	protein-coding gene	gene with protein product				OR5C2P			Standard	NM_001001923		Approved	OR9-F, hRPK-465_F_21	uc011lzd.2	Q8NGR4	OTTHUMG00000020622	ENST00000373680.2:c.768C>T	9.37:g.125551979C>T							p.Y256Y	NM_001001923.1	NP_001001923.1	Q8NGR4	OR5C1_HUMAN			1	830	+			256					B2RN54|B9EGT0|Q96RC4	Silent	SNP	ENST00000373680.2	37	c.768C>T	CCDS35131.1																																																																																				0.602	OR5C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053953.1			4	124	0	0	0	1	0	4	124					T	125551979	C	T	125551979	2	4	119	1	0	0	0	0	0	0	0	1	11153	547	19	1		1	OR5C1	9	125551979	Silent	SNP	C	TCGA-EJ-A65D-01A-11D-A30E-08		125551979	15661452	19	6269											
DHTKD1	55526	broad.mit.edu	37	chr10	12131124	12131124	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccatgtgacaatgttgcccaAtccctcgcacctggaggccg	8	8	10	15	2	0	1	0	1	0	0	2	2	1	2	5	2	1	2	5	2	2	1			TCGA-EJ-A65D-01A-11D-A30E-08	TCGA-EJ-A65D-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	955a7101-36b0-4d1d-bd5b-0ab6e3adba5b	aa7b8960-9246-483f-a43b-9366501ee804	g.chr10:12131124A>G	ENST00000263035.4	+	5	919	c.857A>G	c.(856-858)aAt>aGt	p.N286S	DHTKD1_ENST00000465617.1_Intron	NM_018706.5	NP_061176	Q96HY7	DHTK1_HUMAN	dehydrogenase E1 and transketolase domain containing 1	286					cell death (GO:0008219)|generation of precursor metabolites and energy (GO:0006091)|glycolytic process (GO:0006096)|hematopoietic progenitor cell differentiation (GO:0002244)|tricarboxylic acid cycle (GO:0006099)	mitochondrion (GO:0005739)	oxoglutarate dehydrogenase (succinyl-transferring) activity (GO:0004591)|thiamine pyrophosphate binding (GO:0030976)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(1)	44		Renal(717;0.228)	BRCA - Breast invasive adenocarcinoma(52;0.188)			ATGTTGCCCAATCCCTCGCAC	0.602																																						ENST00000263035.4																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(1)	44						c.(856-858)aAt>aGt		dehydrogenase E1 and transketolase domain containing 1							117	98	105					10																	12131124		2203	4300	6503	SO:0001583	missense	55526				glycolysis	mitochondrion	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding	g.chr10:12131124A>G	BC002477	CCDS7087.1	10p14	2003-11-24			ENSG00000181192	ENSG00000181192			23537	protein-coding gene	gene with protein product		614984				10997877	Standard	NM_018706		Approved	KIAA1630, MGC3090, DKFZP762M115	uc001ild.5	Q96HY7	OTTHUMG00000017677	ENST00000263035.4:c.857A>G	10.37:g.12131124A>G	ENSP00000263035:p.Asn286Ser					DHTKD1_ENST00000465617.1_Intron	p.N286S	NM_018706.5	NP_061176.3	Q96HY7	DHTK1_HUMAN	BRCA - Breast invasive adenocarcinoma(52;0.188)		5	919	+		Renal(717;0.228)	286					Q68CU5|Q9BUM8|Q9HCE2	Missense_Mutation	SNP	ENST00000263035.4	37	c.857A>G	CCDS7087.1	.	.	.	.	.	.	.	.	.	.	A	17.79	3.477138	0.63849	.	.	ENSG00000181192	ENST00000263035;ENST00000437298	T;T	0.14144	2.53;2.53	5.43	5.43	0.79202	Dehydrogenase, E1 component (1);	0.040344	0.85682	D	0.000000	T	0.52821	0.1758	H	0.96970	3.915	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.70490	-0.4857	10	0.87932	D	0	-10.2582	15.4667	0.75406	1.0:0.0:0.0:0.0	.	286	Q96HY7	DHTK1_HUMAN	S	286;221	ENSP00000263035:N286S;ENSP00000388163:N221S	ENSP00000263035:N286S	N	+	2	0	DHTKD1	12171130	1.000000	0.71417	0.983000	0.44433	0.107000	0.19398	7.347000	0.79356	2.056000	0.61249	0.460000	0.39030	AAT		0.602	DHTKD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046777.1	NM_018706		58	77	0	0	0	1	0	58	77					G	12131124	A	G	12131124	3	3	119	1	0	0	0	0	1	0	0	0	4500	101	4	4	875	4	DHTKD1	10	12131124	Missense_Mutation	SNP	A	TCGA-EJ-A65D-01A-11D-A30E-08		12131124	123403623	20	6270											
PRKG1	5592	broad.mit.edu	37	chr10	52834614	52834614	+	Intron	DEL	C	C	-																															gagcccaccgccttcgacatCcaggatctcagccatgtgac																										TCGA-EJ-A65D-01A-11D-A30E-08	TCGA-EJ-A65D-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	955a7101-36b0-4d1d-bd5b-0ab6e3adba5b	aa7b8960-9246-483f-a43b-9366501ee804	g.chr10:52834614delC	ENST00000401604.2	+	2	460				PRKG1_ENST00000373985.1_Intron|PRKG1_ENST00000373980.4_Frame_Shift_Del_p.I88fs			Q13976	KGP1_HUMAN	protein kinase, cGMP-dependent, type I						actin cytoskeleton organization (GO:0030036)|blood coagulation (GO:0007596)|cGMP-mediated signaling (GO:0019934)|dendrite development (GO:0016358)|forebrain development (GO:0030900)|negative regulation of platelet aggregation (GO:0090331)|neuron migration (GO:0001764)|protein phosphorylation (GO:0006468)|regulation of GTPase activity (GO:0043087)|relaxation of vascular smooth muscle (GO:0060087)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium channel regulator activity (GO:0005246)|cGMP binding (GO:0030553)|cGMP-dependent protein kinase activity (GO:0004692)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	53		all_cancers(4;2.13e-08)|all_epithelial(4;2.44e-08)|all_lung(4;0.000173)		all cancers(4;1.18e-05)|GBM - Glioblastoma multiforme(4;0.000359)|Epithelial(53;0.00532)|Lung(62;0.0606)		CCTTCGACATCCAGGATCTCA	0.687																																						ENST00000373980.4																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	53						c.(262-264)atfs		protein kinase, cGMP-dependent, type I							174	124	141					10																	52834614		2203	4299	6502	SO:0001627	intron_variant	5592				actin cytoskeleton organization|platelet activation|signal transduction	cytosol	ATP binding|cGMP binding|cGMP-dependent protein kinase activity	g.chr10:52834614delC		CCDS7244.1	10q11.2	2009-07-10			ENSG00000185532	ENSG00000185532	2.7.11.1		9414	protein-coding gene	gene with protein product		176894		PRKGR1B, PRKG1B		2792381, 1544322	Standard	NM_001098512		Approved	PGK, PKG	uc001jjo.3	Q13976	OTTHUMG00000018248	ENST00000401604.2:c.267-78310C>-	10.37:g.52834614delC						PRKG1_ENST00000401604.2_Intron|PRKG1_ENST00000373985.1_Intron	p.I88fs	NM_006258.3	NP_006249.1	Q13976	KGP1_HUMAN		all cancers(4;1.18e-05)|GBM - Glioblastoma multiforme(4;0.000359)|Epithelial(53;0.00532)|Lung(62;0.0606)	1	681	+		all_cancers(4;2.13e-08)|all_epithelial(4;2.44e-08)|all_lung(4;0.000173)	74			Dimerization.		A5YM56|B3KSF3|E2PU10|P14619|Q5JP05|Q5JSJ6|Q6P5T7	Frame_Shift_Del	DEL	ENST00000401604.2	37	c.264delC	CCDS44399.1																																																																																				0.687	PRKG1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				13	25						13	25	---	---	---	---	-	52834614	C	-	52834614	6	5	119	0	1	1	0	1	0	0	0	0	12522	845	30	0		0	PRKG1	10	52834614	Intron	DEL	C	TCGA-EJ-A65D-01A-11D-A30E-08	40703490	52834614	82700133	21	6271											
PCDH15	65217	broad.mit.edu	37	chr10	55996666	55996666	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caatggcttggattggtggcGtaacaataatggggttcagt	10	12	14	5	1	1	0	1	0	0	0	1	1	1	1	0	6	1	3	0	6	4	5	rs370933593		TCGA-EJ-A65D-01A-11D-A30E-08	TCGA-EJ-A65D-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	955a7101-36b0-4d1d-bd5b-0ab6e3adba5b	aa7b8960-9246-483f-a43b-9366501ee804	g.chr10:55996666G>A	ENST00000320301.6	-	9	1296	c.902C>T	c.(901-903)aCg>aTg	p.T301M	PCDH15_ENST00000395446.1_Missense_Mutation_p.T301M|PCDH15_ENST00000395432.2_Missense_Mutation_p.T264M|PCDH15_ENST00000373965.2_Missense_Mutation_p.T301M|PCDH15_ENST00000361849.3_Missense_Mutation_p.T301M|PCDH15_ENST00000395433.1_Missense_Mutation_p.T279M|PCDH15_ENST00000373955.1_Missense_Mutation_p.T301M|PCDH15_ENST00000395438.1_Missense_Mutation_p.T301M|PCDH15_ENST00000395445.1_Missense_Mutation_p.T301M|PCDH15_ENST00000409834.1_Intron|PCDH15_ENST00000373957.3_Missense_Mutation_p.T279M|PCDH15_ENST00000395430.1_Missense_Mutation_p.T301M|PCDH15_ENST00000395440.1_Missense_Mutation_p.T301M|PCDH15_ENST00000395442.1_Missense_Mutation_p.T301M|PCDH15_ENST00000414778.1_Missense_Mutation_p.T306M|PCDH15_ENST00000437009.1_Missense_Mutation_p.T301M	NM_033056.3	NP_149045.3	Q96QU1	PCD15_HUMAN	protocadherin-related 15	301	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	calcium ion binding (GO:0005509)	p.T306M(2)|p.T301M(1)		NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				GATTGGTGGCGTAACAATAAT	0.403										HNSCC(58;0.16)			G|||	1	0.000199681	0	0	5008	,	,		14172	0		0	False		,,,				2504	0.001					ENST00000373965.2																			3	Substitution - Missense(3)	p.T306M(2)|p.T301M(1)	large_intestine(3)	NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237						c.(901-903)aCg>aTg		protocadherin-related 15							171	163	166					10																	55996666		2203	4300	6503	SO:0001583	missense	65217				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding	g.chr10:55996666G>A	AY029205	CCDS7248.1, CCDS44400.1, CCDS44401.1, CCDS44403.1, CCDS44404.1, CCDS73134.1, CCDS73135.1, CCDS73136.1, CCDS73137.1, CCDS73138.1	10q21.1	2013-01-08	2010-01-25		ENSG00000150275	ENSG00000150275		"Cadherins / Cadherin-related"	14674	protein-coding gene	gene with protein product	"cadherin-related family member 15"	605514	"deafness, autosomal recessive 23", "protocadherin 15"	USH1F, DFNB23		11398101, 14570705	Standard	NM_033056		Approved	CDHR15	uc010qhy.1	Q96QU1	OTTHUMG00000018259	ENST00000320301.6:c.902C>T	10.37:g.55996666G>A	ENSP00000322604:p.Thr301Met	HNSCC(58;0.16)				PCDH15_ENST00000395430.1_Missense_Mutation_p.T301M|PCDH15_ENST00000373957.3_Missense_Mutation_p.T279M|PCDH15_ENST00000409834.1_Intron|PCDH15_ENST00000395440.1_Missense_Mutation_p.T301M|PCDH15_ENST00000395445.1_Missense_Mutation_p.T301M|PCDH15_ENST00000361849.3_Missense_Mutation_p.T301M|PCDH15_ENST00000320301.6_Missense_Mutation_p.T301M|PCDH15_ENST00000437009.1_Missense_Mutation_p.T301M|PCDH15_ENST00000373955.1_Missense_Mutation_p.T301M|PCDH15_ENST00000395438.1_Missense_Mutation_p.T301M|PCDH15_ENST00000414778.1_Missense_Mutation_p.T306M|PCDH15_ENST00000395433.1_Missense_Mutation_p.T279M|PCDH15_ENST00000395442.1_Missense_Mutation_p.T301M|PCDH15_ENST00000395432.2_Missense_Mutation_p.T264M|PCDH15_ENST00000395446.1_Missense_Mutation_p.T301M	p.T301M	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN			9	1296	-		Melanoma(3;0.117)|Lung SC(717;0.238)	301			Cadherin 3.		A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Missense_Mutation	SNP	ENST00000320301.6	37	c.902C>T	CCDS7248.1	.	.	.	.	.	.	.	.	.	.	G	15.39	2.820342	0.50633	.	.	ENSG00000150275	ENST00000373965;ENST00000414778;ENST00000455746;ENST00000395438;ENST00000395445;ENST00000395446;ENST00000395442;ENST00000395440;ENST00000395432;ENST00000361849;ENST00000395433;ENST00000373957;ENST00000320301;ENST00000395430;ENST00000417177;ENST00000437009;ENST00000373955	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.57907	1.16;1.16;1.16;1.16;1.16;1.16;1.16;0.37;1.16;1.16;1.16;1.16;1.16;1.16;1.16	5.19	3.32	0.38043	Cadherin (2);Cadherin-like (1);	.	.	.	.	T	0.70064	0.3181	M	0.80982	2.52	0.53688	D	0.999975	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.97110	0.999;0.997;0.995;0.995;0.999;0.997;0.999;0.999;0.997;0.997;0.997;0.999;1.0;0.999;0.995	T	0.69367	-0.5164	9	0.51188	T	0.08	.	9.6564	0.39928	0.0791:0.1426:0.7783:0.0	.	279;301;301;306;301;264;301;301;301;301;301;306;301;279;301	A2A3E8;E7EMG4;A2A3E7;C9JIG1;E7EM53;E7EMG0;A2A3E6;A2A3E3;C6ZEF5;A2A3E2;C6ZEF7;C9J4F3;Q96QU1-3;A2A3D8;Q96QU1	.;.;.;.;.;.;.;.;.;.;.;.;.;.;PCD15_HUMAN	M	301;306;301;301;301;301;301;301;264;301;279;279;301;301;306;301;301	ENSP00000363076:T301M;ENSP00000410304:T306M;ENSP00000378826:T301M;ENSP00000378832:T301M;ENSP00000378833:T301M;ENSP00000378829:T301M;ENSP00000378827:T301M;ENSP00000378820:T264M;ENSP00000354950:T301M;ENSP00000378821:T279M;ENSP00000363068:T279M;ENSP00000322604:T301M;ENSP00000378818:T301M;ENSP00000412628:T301M;ENSP00000363066:T301M	ENSP00000322604:T301M	T	-	2	0	PCDH15	55666672	1.000000	0.71417	0.568000	0.28447	0.333000	0.28666	5.594000	0.67557	0.577000	0.29470	0.650000	0.86243	ACG		0.403	PCDH15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000048121.2	NM_033056		61	70	0	0	0	1	0	61	70					A	55996666	G	A	55996666	3	1	119	1	0	0	0	0	1	0	0	0	11511	1145	40	1	6709	1	PCDH15	10	55996666	Missense_Mutation	SNP	G	TCGA-EJ-A65D-01A-11D-A30E-08	3162052	55996666	79538081	22	6272											
PTEN	5728	broad.mit.edu	37	chr10	89653846	89653846	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cttgaaggcgtatacaggaaCaatattgatgatgtagtaag	15	11	11	4	1	0	3	0	3	0	0	0	4	0	4	0	2	2	3	0	2	8	7			TCGA-EJ-A65D-01A-11D-A30E-08	TCGA-EJ-A65D-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	955a7101-36b0-4d1d-bd5b-0ab6e3adba5b	aa7b8960-9246-483f-a43b-9366501ee804	g.chr10:89653846C>A	ENST00000371953.3	+	2	1501	c.144C>A	c.(142-144)aaC>aaA	p.N48K		NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	48	Phosphatase tensin-type. {ECO:0000255|PROSITE-ProRule:PRU00590}.				activation of mitotic anaphase-promoting complex activity (GO:0007092)|aging (GO:0007568)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|brain morphogenesis (GO:0048854)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle tissue development (GO:0048738)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|central nervous system myelin maintenance (GO:0032286)|central nervous system neuron axonogenesis (GO:0021955)|dendritic spine morphogenesis (GO:0060997)|dentate gyrus development (GO:0021542)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|innate immune response (GO:0045087)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|learning or memory (GO:0007611)|locomotor rhythm (GO:0045475)|locomotory behavior (GO:0007626)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|male mating behavior (GO:0060179)|maternal behavior (GO:0042711)|memory (GO:0007613)|multicellular organismal response to stress (GO:0033555)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell aging (GO:0090344)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031658)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myelination (GO:0031642)|negative regulation of organ growth (GO:0046621)|negative regulation of phagocytosis (GO:0050765)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of ribosome biogenesis (GO:0090071)|negative regulation of synaptic vesicle clustering (GO:2000808)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell proliferation (GO:0008284)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|postsynaptic density assembly (GO:0097107)|prepulse inhibition (GO:0060134)|presynaptic membrane assembly (GO:0097105)|prostate gland growth (GO:0060736)|protein dephosphorylation (GO:0006470)|protein kinase B signaling (GO:0043491)|protein stabilization (GO:0050821)|regulation of B cell apoptotic process (GO:0002902)|regulation of cellular component size (GO:0032535)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of neuron projection development (GO:0010975)|regulation of protein stability (GO:0031647)|response to arsenic-containing substance (GO:0046685)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse maturation (GO:0060074)|T cell receptor signaling pathway (GO:0050852)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|myelin sheath adaxonal region (GO:0035749)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)	anaphase-promoting complex binding (GO:0010997)|enzyme binding (GO:0019899)|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity (GO:0051717)|lipid binding (GO:0008289)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity (GO:0051800)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.0?(37)|p.?(8)|p.Y27fs*1(2)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		TATACAGGAACAATATTGATG	0.289		31	"D, Mis, N, F, S"		"glioma,  prostate, endometrial"	"harmartoma, glioma,  prostate, endometrial"			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																												ENST00000371953.3		31	yes	Rec	yes	"Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"	10	10q23.3	5728	"D, Mis, N, F, S"	phosphatase and tensin homolog gene			"L, E, M, O"		"harmartoma, glioma,  prostate, endometrial"	"glioma,  prostate, endometrial"		47	Whole gene deletion(37)|Unknown(8)|Deletion - Frameshift(2)	p.0?(37)|p.?(8)|p.Y27fs*1(2)	prostate(14)|central_nervous_system(8)|skin(8)|haematopoietic_and_lymphoid_tissue(4)|lung(4)|ovary(3)|breast(2)|soft_tissue(1)|urinary_tract(1)|NS(1)|kidney(1)	NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771	GRCh37	CM033665	PTEN	M		c.(142-144)aaC>aaA		phosphatase and tensin homolog							109	109	109					10																	89653846		2203	4295	6498	SO:0001583	missense	5728	Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	Familial Cancer Database	Incl.: Encephalocraniocutaneous Lipomatosis, ECCL, Proteus-like s.;incl.: Juvenile Polyposis of the Stomach;HMPS1, Colorectal Adenoma Carcinoma syndrome, CRAC, CRAC1;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;subset of PTEN-Hamartoma Tumor Syndrome; incl.: Ruvalcaba-Myhre-Smith s.	activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr10:89653846C>A	U92436	CCDS31238.1	10q23	2014-09-17	2008-07-31		ENSG00000171862	ENSG00000171862		"Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"	9588	protein-coding gene	gene with protein product	"mutated in multiple advanced cancers 1"	601728		BZS, MHAM		9090379	Standard	NM_000314		Approved	MMAC1, TEP1, PTEN1	uc001kfb.3	P60484	OTTHUMG00000018688	ENST00000371953.3:c.144C>A	10.37:g.89653846C>A	ENSP00000361021:p.Asn48Lys	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)					p.N48K	NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)	2	1501	+		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	48			Phosphatase tensin-type.		B2R904|F2YHV0|O00633|O02679|Q6ICT7	Missense_Mutation	SNP	ENST00000371953.3	37	c.144C>A	CCDS31238.1	.	.	.	.	.	.	.	.	.	.	C	24.8	4.572618	0.86542	.	.	ENSG00000171862	ENST00000371953	D	0.98701	-5.08	5.19	5.19	0.71726	Phosphatase tensin type (1);	0.000000	0.85682	D	0.000000	D	0.99248	0.9738	M	0.93283	3.4	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.99167	1.0863	9	.	.	.	-6.2602	11.0481	0.47870	0.0:0.9128:0.0:0.0872	.	48	P60484	PTEN_HUMAN	K	48	ENSP00000361021:N48K	.	N	+	3	2	PTEN	89643826	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.453000	0.66645	2.421000	0.82119	0.655000	0.94253	AAC		0.289	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1	NM_000314		4	81	1	0	0.217242	1	0.217242	4	81					A	89653846	C	A	89653846	3	1	119	1	0	0	0	0	1	0	0	0	12738	477	17	5	150	5	PTEN	10	89653846	Missense_Mutation	SNP	C	TCGA-EJ-A65D-01A-11D-A30E-08	33657180	89653846	45880901	23	6273											
MUC5B	727897	broad.mit.edu	37	chr11	1263453	1263453	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	accaccaccagccagggcacGacccgctgtcaaccgaagtg	11	3	10	17	3	1	0	1	0	0	0	1	2	1	0	6	1	2	2	6	1	2	0			TCGA-EJ-A65D-01A-11D-A30E-08	TCGA-EJ-A65D-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	955a7101-36b0-4d1d-bd5b-0ab6e3adba5b	aa7b8960-9246-483f-a43b-9366501ee804	g.chr11:1263453G>A	ENST00000529681.1	+	31	5401	c.5343G>A	c.(5341-5343)acG>acA	p.T1781T	RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000447027.1_Silent_p.T1784T	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	1781	7 X Cys-rich subdomain repeats.|Thr-rich.				cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		GCCAGGGCACGACCCGCTGTC	0.582																																						ENST00000447027.1																			0				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137						c.(5350-5352)acG>acA		mucin 5B, oligomeric mucus/gel-forming							50	59	56					11																	1263453		2159	4238	6397	SO:0001819	synonymous_variant	727897				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	g.chr11:1263453G>A	U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"Mucins"	7516	protein-coding gene	gene with protein product		600770	"mucin 5, subtype B, tracheobronchial"	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.5343G>A	11.37:g.1263453G>A						MUC5B_ENST00000529681.1_Silent_p.T1781T	p.T1784T			Q9HC84	MUC5B_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)	31	5410	+		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	1781			7 X Cys-rich subdomain repeats.|Thr-rich.		O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Silent	SNP	ENST00000529681.1	37	c.5352G>A	CCDS44515.2																																																																																				0.582	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093		7	85	0	0	0	1	0	7	85					A	1263453	G	A	1263453	2	1	119	1	0	0	0	0	0	0	0	1	9979	1045	37	2		2	MUC5B	11	1263453	Silent	SNP	G	TCGA-EJ-A65D-01A-11D-A30E-08		1263453	133743063	24	6274											
OR51Q1	390061	broad.mit.edu	37	chr11	5444079	5444079	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgtggatcctctgctcattGtgatctcctatacacttatt	7	17	6	11	1	3	1	1	1	2	0	6	2	4	2	2	1	2	1	2	1	3	5	rs200365005		TCGA-EJ-A65D-01A-11D-A30E-08	TCGA-EJ-A65D-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	955a7101-36b0-4d1d-bd5b-0ab6e3adba5b	aa7b8960-9246-483f-a43b-9366501ee804	g.chr11:5444079G>T	ENST00000300778.4	+	1	739	c.649G>T	c.(649-651)Gtg>Ttg	p.V217L	AC104389.28_ENST00000415970.1_RNA|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380259.2_Intron|HBG2_ENST00000380252.1_Intron	NM_001004757.2	NP_001004757.1	Q8NH59	O51Q1_HUMAN	olfactory receptor, family 51, subfamily Q, member 1 (gene/pseudogene)	217						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|kidney(2)|large_intestine(3)|liver(2)|lung(21)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	37		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;2.18e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TCTGCTCATTGTGATCTCCTA	0.493																																						ENST00000300778.4																			0				endometrium(3)|kidney(2)|large_intestine(3)|liver(2)|lung(21)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	37						c.(649-651)Gtg>Ttg		olfactory receptor, family 51, subfamily Q, member 1 (gene/pseudogene)							163	139	147					11																	5444079		2201	4297	6498	SO:0001583	missense	390061				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5444079G>T	AB065531	CCDS31381.1	11p15.4	2013-10-10	2013-10-10		ENSG00000167360	ENSG00000167360		"GPCR / Class A : Olfactory receptors"	14851	protein-coding gene	gene with protein product			"olfactory receptor, family 51, subfamily Q, member 1"				Standard	NM_001004757		Approved		uc010qzd.2	Q8NH59	OTTHUMG00000066896	ENST00000300778.4:c.649G>T	11.37:g.5444079G>T	ENSP00000300778:p.Val217Leu					HBG2_ENST00000380252.1_Intron|HBG2_ENST00000380259.2_Intron|AC104389.28_ENST00000415970.1_RNA|HBE1_ENST00000380237.1_Intron	p.V217L	NM_001004757.2	NP_001004757.1	Q8NH59	O51Q1_HUMAN		Epithelial(150;2.18e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	739	+		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)	217					B2RNN1	Missense_Mutation	SNP	ENST00000300778.4	37	c.649G>T	CCDS31381.1	.	.	.	.	.	.	.	.	.	.	G	0.013	-1.645282	0.00792	.	.	ENSG00000167360	ENST00000300778	T	0.00130	8.69	5.0	-0.678	0.11353	GPCR, rhodopsin-like superfamily (1);	0.922394	0.09096	N	0.849142	T	0.00073	0.0002	N	0.04132	-0.27	0.09310	N	1	B	0.16396	0.017	B	0.22386	0.039	T	0.25572	-1.0128	10	0.02654	T	1	.	1.9741	0.03412	0.221:0.2355:0.421:0.1225	.	217	Q8NH59	O51Q1_HUMAN	L	217	ENSP00000300778:V217L	ENSP00000300778:V217L	V	+	1	0	OR51Q1	5400655	0.000000	0.05858	0.233000	0.24025	0.380000	0.30137	-1.785000	0.01767	0.027000	0.15297	0.380000	0.24917	GTG		0.493	OR51Q1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143373.1	NM_001004757		7	168	1	0	2.0095e-06	1	2.07762e-06	7	168					T	5444079	G	T	5444079	3	4	119	1	0	0	0	0	1	0	0	0	11104	1377	48	5	651	5	OR51Q1	11	5444079	Missense_Mutation	SNP	G	TCGA-EJ-A65D-01A-11D-A30E-08	4180626	5444079	129562437	25	6275											
CD163L1	283316	broad.mit.edu	37	chr12	7531634	7531634	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agtctgtttccactcccatcGtatacaatcccagagagagg	11	10	8	12	1	1	2	0	0	1	2	5	3	4	2	3	1	1	2	3	1	3	3			TCGA-EJ-A65D-01A-11D-A30E-08	TCGA-EJ-A65D-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	955a7101-36b0-4d1d-bd5b-0ab6e3adba5b	aa7b8960-9246-483f-a43b-9366501ee804	g.chr12:7531634G>A	ENST00000313599.3	-	9	2368	c.2311C>T	c.(2311-2313)Cga>Tga	p.R771*	CD163L1_ENST00000544331.1_5'UTR|CD163L1_ENST00000396630.1_Nonsense_Mutation_p.R771*|CD163L1_ENST00000416109.2_Nonsense_Mutation_p.R781*			Q9NR16	C163B_HUMAN	CD163 molecule-like 1	771	SRCR 7. {ECO:0000255|PROSITE- ProRule:PRU00196}.					extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)	p.R771*(1)		breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						CACTCCCATCGTATACAATCC	0.408																																						ENST00000313599.3																			1	Substitution - Nonsense(1)	p.R771*(1)	ovary(1)	breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						c.(2311-2313)Cga>Tga		CD163 molecule-like 1							72	72	72					12																	7531634		2203	4300	6503	SO:0001587	stop_gained	283316					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity	g.chr12:7531634G>A	AF264014	CCDS8577.1, CCDS73434.1	12p13.31	2006-03-28	2006-03-28			ENSG00000177675			30375	protein-coding gene	gene with protein product		606079	"CD163 antigen-like 1"			11124526, 11086079	Standard	XM_005253348		Approved	M160, CD163B	uc001qsy.3	Q9NR16		ENST00000313599.3:c.2311C>T	12.37:g.7531634G>A	ENSP00000315945:p.Arg771*					CD163L1_ENST00000416109.2_Nonsense_Mutation_p.R781*|CD163L1_ENST00000396630.1_Nonsense_Mutation_p.R771*|CD163L1_ENST00000544331.1_5'UTR	p.R771*			Q9NR16	C163B_HUMAN			9	2368	-			771			SRCR 7.		B4E0G7|C9JHR7|E7EVK4|Q2M3B7|Q6UWC2	Nonsense_Mutation	SNP	ENST00000313599.3	37	c.2311C>T	CCDS8577.1	.	.	.	.	.	.	.	.	.	.	G	31	5.076743	0.94000	.	.	ENSG00000177675	ENST00000313599;ENST00000416109;ENST00000396630	.	.	.	1.82	-1.31	0.09230	.	3.403600	0.01971	U	0.044106	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.14656	T	0.56	.	3.6624	0.08244	0.1909:0.0:0.4673:0.3418	.	.	.	.	X	771;781;771	.	ENSP00000315945:R771X	R	-	1	2	CD163L1	7422901	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-0.284000	0.08422	-0.315000	0.08703	0.455000	0.32223	CGA		0.408	CD163L1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399329.1	NM_174941		61	57	0	0	0	1	0	61	57					A	7531634	G	A	7531634	4	1	119	1	0	0	0	0	0	1	0	0	2968	1153	40	1	2094	1	CD163L1	12	7531634	Nonsense_Mutation	SNP	G	TCGA-EJ-A65D-01A-11D-A30E-08		7531634	126320261	26	6276											
ITGA7	3679	broad.mit.edu	37	chr12	56092320	56092320	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	accccccagctcttcttggcGctcaaagaagtagggggcac	9	7	11	14	1	3	1	1	0	2	1	3	1	3	1	3	3	1	4	3	3	3	3	rs569613714	byFrequency	TCGA-EJ-A65D-01A-11D-A30E-08	TCGA-EJ-A65D-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	955a7101-36b0-4d1d-bd5b-0ab6e3adba5b	aa7b8960-9246-483f-a43b-9366501ee804	g.chr12:56092320G>A	ENST00000555728.1	-	8	1199	c.1171C>T	c.(1171-1173)Cgc>Tgc	p.R391C	ITGA7_ENST00000257880.7_Missense_Mutation_p.R391C|ITGA7_ENST00000452168.2_Missense_Mutation_p.R254C|ITGA7_ENST00000553804.1_Missense_Mutation_p.R351C|ITGA7_ENST00000394230.2_Missense_Mutation_p.R351C|ITGA7_ENST00000394229.2_Missense_Mutation_p.R347C|ITGA7_ENST00000347027.6_Missense_Mutation_p.R347C|ITGA7_ENST00000257879.6_Missense_Mutation_p.R347C			Q13683	ITA7_HUMAN	integrin, alpha 7	391					blood vessel morphogenesis (GO:0048514)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|endodermal cell differentiation (GO:0035987)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|muscle organ development (GO:0007517)|regulation of cell shape (GO:0008360)|skeletal muscle tissue development (GO:0007519)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|integrin alpha7-beta1 complex (GO:0034677)|muscle tendon junction (GO:0005927)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)	metal ion binding (GO:0046872)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(16)|ovary(2)|prostate(2)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						TCTTCTTGGCGCTCAAAGAAG	0.612													G|||	4	0.000798722	0	0	5008	,	,		17903	0.001		0	False		,,,				2504	0.0031					ENST00000257880.7																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(16)|ovary(2)|prostate(2)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						c.(1171-1173)Cgc>Tgc		integrin, alpha 7							57	63	61					12																	56092320		2203	4300	6503	SO:0001583	missense	3679				cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development|regulation of cell shape	integrin complex	receptor activity	g.chr12:56092320G>A		CCDS8888.1, CCDS44914.1, CCDS55832.1	12q13	2014-09-17				ENSG00000135424		"Integrins"	6143	protein-coding gene	gene with protein product		600536				7607681	Standard	NM_002206		Approved		uc001shh.3	Q13683		ENST00000555728.1:c.1171C>T	12.37:g.56092320G>A	ENSP00000452387:p.Arg391Cys					ITGA7_ENST00000347027.6_Missense_Mutation_p.R347C|ITGA7_ENST00000555728.1_Missense_Mutation_p.R391C|ITGA7_ENST00000553804.1_Missense_Mutation_p.R351C|ITGA7_ENST00000257879.6_Missense_Mutation_p.R347C|ITGA7_ENST00000452168.2_Missense_Mutation_p.R254C|ITGA7_ENST00000394229.2_Missense_Mutation_p.R347C|ITGA7_ENST00000394230.2_Missense_Mutation_p.R351C	p.R391C			Q13683	ITA7_HUMAN			8	1390	-			391					B4E3U0|C9JMD3|C9JMZ6|O43197|Q86W93|Q9NY89|Q9UET0|Q9UEV2	Missense_Mutation	SNP	ENST00000555728.1	37	c.1171C>T		.	.	.	.	.	.	.	.	.	.	G	27.8	4.862234	0.91511	.	.	ENSG00000135424	ENST00000553804;ENST00000257879;ENST00000347027;ENST00000452168;ENST00000257880;ENST00000394230;ENST00000394229;ENST00000353687;ENST00000555728	T;T;T;T;T;T;T;T	0.70399	-0.48;-0.48;-0.48;-0.48;-0.48;-0.48;-0.48;-0.48	4.93	4.93	0.64822	.	0.000000	0.85682	D	0.000000	D	0.86636	0.5980	M	0.90759	3.145	0.80722	D	1	D;D;D;D	0.89917	1.0;0.998;1.0;1.0	D;D;D;D	0.77557	0.961;0.953;0.961;0.99	D	0.89493	0.3758	10	0.87932	D	0	.	16.0142	0.80425	0.0:0.0:1.0:0.0	.	254;391;351;410	Q13683-13;Q13683;Q13683-3;Q4LE35	.;ITA7_HUMAN;.;.	C	351;347;347;254;391;351;347;391;391	ENSP00000452120:R351C;ENSP00000257879:R347C;ENSP00000343009:R347C;ENSP00000393844:R254C;ENSP00000257880:R391C;ENSP00000377777:R351C;ENSP00000377776:R347C;ENSP00000452387:R391C	ENSP00000257879:R347C	R	-	1	0	ITGA7	54378587	0.538000	0.26394	1.000000	0.80357	0.997000	0.91878	1.169000	0.31871	2.456000	0.83038	0.561000	0.74099	CGC		0.612	ITGA7-014	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000410138.1	NM_002206		47	62	0	0	0	1	0	47	62					A	56092320	G	A	56092320	3	1	119	1	0	0	0	0	1	0	0	0	7881	1087	38	1	2450	1	ITGA7	12	56092320	Missense_Mutation	SNP	G	TCGA-EJ-A65D-01A-11D-A30E-08	48560686	56092320	77759575	27	6277											
ZC3H10	84872	broad.mit.edu	37	chr12	56515289	56515289	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gcattgcccagactcacactActctcagcagccaggctcta	10	8	7	16	0	3	1	2	0	2	1	4	1	3	1	2	1	4	3	2	1	2	3			TCGA-EJ-A65D-01A-11D-A30E-08	TCGA-EJ-A65D-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	955a7101-36b0-4d1d-bd5b-0ab6e3adba5b	aa7b8960-9246-483f-a43b-9366501ee804	g.chr12:56515289A>G	ENST00000257940.2	+	3	1219	c.943A>G	c.(943-945)Act>Gct	p.T315A	RP11-603J24.5_ENST00000550947.1_RNA|RP11-603J24.5_ENST00000549438.1_RNA|RP11-603J24.6_ENST00000550840.1_RNA	NM_032786.1	NP_116175.1	Q96K80	ZC3HA_HUMAN	zinc finger CCCH-type containing 10	315							metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(4)|large_intestine(1)|lung(2)|prostate(2)|skin(1)	11			OV - Ovarian serous cystadenocarcinoma(18;0.12)			GACTCACACTACTCTCAGCAG	0.597																																						ENST00000257940.2																			0				breast(1)|endometrium(4)|large_intestine(1)|lung(2)|prostate(2)|skin(1)	11						c.(943-945)Act>Gct		zinc finger CCCH-type containing 10							73	62	66					12																	56515289		2203	4300	6503	SO:0001583	missense	84872						nucleic acid binding|zinc ion binding	g.chr12:56515289A>G	BC018708	CCDS8903.1	12q13.2	2012-07-05	2005-06-02	2005-06-02		ENSG00000135482		"Zinc fingers, CCCH-type domain containing"	25893	protein-coding gene	gene with protein product			"zinc finger CCCH-type domain containing 10"	ZC3HDC10		12477932	Standard	NM_032786		Approved	FLJ14451	uc001sjp.1	Q96K80		ENST00000257940.2:c.943A>G	12.37:g.56515289A>G	ENSP00000257940:p.Thr315Ala					RP11-603J24.5_ENST00000549438.1_RNA|RP11-603J24.5_ENST00000550947.1_RNA	p.T315A	NM_032786.1	NP_116175.1	Q96K80	ZC3HA_HUMAN	OV - Ovarian serous cystadenocarcinoma(18;0.12)		3	1219	+			315						Missense_Mutation	SNP	ENST00000257940.2	37	c.943A>G	CCDS8903.1	.	.	.	.	.	.	.	.	.	.	A	13.73	2.322890	0.41096	.	.	ENSG00000135482	ENST00000257940	.	.	.	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	T	0.44726	0.1307	N	0.19112	0.55	0.80722	D	1	B	0.22080	0.064	B	0.23419	0.046	T	0.33214	-0.9877	9	0.34782	T	0.22	-17.7903	15.1007	0.72273	1.0:0.0:0.0:0.0	.	315	Q96K80	ZC3HA_HUMAN	A	315	.	ENSP00000257940:T315A	T	+	1	0	ZC3H10	54801556	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.009000	0.93606	2.272000	0.75746	0.523000	0.50628	ACT		0.597	ZC3H10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407826.1	NM_032786		26	26	0	0	0	1	0	26	26					G	56515289	A	G	56515289	3	3	119	1	0	0	0	0	1	0	0	0	17556	391	14	4	945	4	ZC3H10	12	56515289	Missense_Mutation	SNP	A	TCGA-EJ-A65D-01A-11D-A30E-08	422969	56515289	77336606	28	6278											
PSPC1	55269	broad.mit.edu	37	chr13	20325485	20325485	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccagtttctctttggcttctCtgatgtttctatcaacctgc	5	18	6	12	0	4	1	1	1	3	0	6	1	4	1	2	1	2	3	2	1	2	5			TCGA-EJ-A65D-01A-11D-A30E-08	TCGA-EJ-A65D-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	955a7101-36b0-4d1d-bd5b-0ab6e3adba5b	aa7b8960-9246-483f-a43b-9366501ee804	g.chr13:20325485C>T	ENST00000338910.4	-	4	1052	c.893G>A	c.(892-894)aGa>aAa	p.R298K		NM_001042414.2	NP_001035879.1	Q8WXF1	PSPC1_HUMAN	paraspeckle component 1	298	Sufficient for paraspeckles localization.|Sufficient for perinucleolar caps localization and interaction with NONO.				negative regulation of transcription, DNA-templated (GO:0045892)|regulation of circadian rhythm (GO:0042752)|rhythmic process (GO:0048511)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|paraspeckles (GO:0042382)	core promoter binding (GO:0001047)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(1)|large_intestine(4)|lung(10)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23		all_cancers(29;1.25e-22)|all_lung(29;1.97e-20)|all_epithelial(30;2.29e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;4.63e-06)|Epithelial(112;2.29e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00256)|Lung(94;0.00975)|LUSC - Lung squamous cell carcinoma(192;0.0483)		TTTGGCTTCTCTGATGTTTCT	0.418																																						ENST00000338910.4																			0				breast(1)|endometrium(1)|large_intestine(4)|lung(10)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23						c.(892-894)aGa>aAa		paraspeckle component 1							211	193	199					13																	20325485		1892	4110	6002	SO:0001583	missense	55269				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nuclear matrix|nucleolus	nucleotide binding|protein binding|RNA binding	g.chr13:20325485C>T	AK001817	CCDS41870.1	13q11	2013-02-12			ENSG00000121390	ENSG00000121390		"RNA binding motif (RRM) containing"	20320	protein-coding gene	gene with protein product		612408				11790299	Standard	NM_001042414		Approved	PSP1, FLJ10955	uc021rgx.1	Q8WXF1	OTTHUMG00000016502	ENST00000338910.4:c.893G>A	13.37:g.20325485C>T	ENSP00000343966:p.Arg298Lys						p.R298K	NM_001042414.2	NP_001035879.1	Q8WXF1	PSPC1_HUMAN		all cancers(112;4.63e-06)|Epithelial(112;2.29e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00256)|Lung(94;0.00975)|LUSC - Lung squamous cell carcinoma(192;0.0483)	4	1052	-		all_cancers(29;1.25e-22)|all_lung(29;1.97e-20)|all_epithelial(30;2.29e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)	298			Sufficient for paraspeckles localization.|Sufficient for perinucleolar caps localization and interaction with NONO.		Q5JTQ3|Q8NCZ9|Q8WXE8|Q9NV36	Missense_Mutation	SNP	ENST00000338910.4	37	c.893G>A	CCDS41870.1	.	.	.	.	.	.	.	.	.	.	C	6.015	0.371181	0.11409	.	.	ENSG00000121390	ENST00000338910;ENST00000422828	T	0.11495	2.77	4.83	4.83	0.62350	.	0.148213	0.56097	D	0.000040	T	0.05181	0.0138	N	0.10809	0.05	0.46774	D	0.999198	B	0.02656	0.0	B	0.01281	0.0	T	0.16158	-1.0412	10	0.02654	T	1	-11.605	12.7326	0.57206	0.0:0.9201:0.0:0.0799	.	298	Q8WXF1	PSPC1_HUMAN	K	298;238	ENSP00000343966:R298K	ENSP00000343966:R298K	R	-	2	0	PSPC1	19223485	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.318000	0.43779	2.399000	0.81585	0.555000	0.69702	AGA		0.418	PSPC1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044037.2			11	210	0	0	0	1	0	11	210					T	20325485	C	T	20325485	3	4	119	1	0	0	0	0	1	0	0	0	12716	913	32	3	702	3	PSPC1	13	20325485	Missense_Mutation	SNP	C	TCGA-EJ-A65D-01A-11D-A30E-08		20325485	94844393	29	6279											
WDR72	256764	broad.mit.edu	37	chr15	53889439	53889439	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcatgtgttgttgaacttcCgccaagagaacagcttgtat	10	14	9	8	1	1	2	1	1	0	1	2	3	2	2	2	0	3	4	2	0	4	6			TCGA-EJ-A65D-01A-11D-A30E-08	TCGA-EJ-A65D-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	955a7101-36b0-4d1d-bd5b-0ab6e3adba5b	aa7b8960-9246-483f-a43b-9366501ee804	g.chr15:53889439C>T	ENST00000396328.1	-	18	3224	c.2985G>A	c.(2983-2985)gcG>gcA	p.A995A	WDR72_ENST00000559418.1_Silent_p.A1005A|WDR72_ENST00000557913.1_Silent_p.A992A|WDR72_ENST00000360509.5_Silent_p.A995A	NM_001277176.1|NM_182758.2	NP_001264105.1|NP_877435.3	Q3MJ13	WDR72_HUMAN	WD repeat domain 72	995										NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	71				all cancers(107;0.0511)		GTTGAACTTCCGCCAAGAGAA	0.378																																						ENST00000396328.1																			0				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	71						c.(2983-2985)gcG>gcA		WD repeat domain 72							207	192	197					15																	53889439		2194	4293	6487	SO:0001819	synonymous_variant	256764							g.chr15:53889439C>T	BX537884	CCDS10151.1, CCDS73730.1	15q21.3	2013-01-09			ENSG00000166415	ENSG00000166415		"WD repeat domain containing"	26790	protein-coding gene	gene with protein product		613214					Standard	NM_182758		Approved	FLJ38736	uc002acj.2	Q3MJ13	OTTHUMG00000131939	ENST00000396328.1:c.2985G>A	15.37:g.53889439C>T						WDR72_ENST00000557913.1_Silent_p.A992A|WDR72_ENST00000559418.1_Silent_p.A1005A|WDR72_ENST00000360509.5_Silent_p.A995A	p.A995A	NM_001277176.1|NM_182758.2	NP_001264105.1|NP_877435.3	Q3MJ13	WDR72_HUMAN		all cancers(107;0.0511)	18	3224	-			995					Q7Z3I3|Q8N8X2	Silent	SNP	ENST00000396328.1	37	c.2985G>A	CCDS10151.1																																																																																				0.378	WDR72-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254893.2	NM_182758		72	106	0	0	0	1	0	72	106					T	53889439	C	T	53889439	2	4	119	1	0	0	0	0	0	0	0	1	17319	639	23	2		2	WDR72	15	53889439	Silent	SNP	C	TCGA-EJ-A65D-01A-11D-A30E-08		53889439	48641953	30	6280											
UNC13C	440279	broad.mit.edu	37	chr15	54804028	54804028	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaatccatgggagggaaggaGgtgggtatctttttctccta	9	12	14	6	0	2	0	0	0	2	0	4	4	3	3	2	5	0	1	2	5	4	4			TCGA-EJ-A65D-01A-11D-A30E-08	TCGA-EJ-A65D-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	955a7101-36b0-4d1d-bd5b-0ab6e3adba5b	aa7b8960-9246-483f-a43b-9366501ee804	g.chr15:54804028G>A	ENST00000260323.11	+	23	5457	c.5457G>A	c.(5455-5457)gaG>gaA	p.E1819E	UNC13C_ENST00000537900.1_Splice_Site_p.E1817E|UNC13C_ENST00000545554.1_Splice_Site_p.E1819E	NM_001080534.1	NP_001074003.1	Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	1819					exocytosis (GO:0006887)|intracellular signal transduction (GO:0035556)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		GAGGGAAGGAGGTGGGTATCT	0.353																																						ENST00000545554.1																			0				breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121						c.e23+1		unc-13 homolog C (C. elegans)							55	55	55					15																	54804028		1823	4104	5927	SO:0001630	splice_region_variant	440279				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding	g.chr15:54804028G>A	AK091491	CCDS45264.1	15q21.3	2012-10-02			ENSG00000137766	ENSG00000137766			23149	protein-coding gene	gene with protein product		614568					Standard	NM_001080534		Approved	Munc13-3, DKFZp547H074	uc021smr.1	Q8NB66	OTTHUMG00000172542	ENST00000260323.11:c.5457+1G>A	15.37:g.54804028G>A						UNC13C_ENST00000260323.11_Splice_Site_p.E1819_splice|UNC13C_ENST00000537900.1_Splice_Site_p.E1817_splice	p.E1819_splice			Q8NB66	UN13C_HUMAN		GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)	23	5457	+			1819					Q0P613|Q8ND48|Q96NP3	Splice_Site	SNP	ENST00000260323.11	37	c.5457_splice	CCDS45264.1																																																																																				0.353	UNC13C-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000419028.3	NM_173166	Silent	7	8	0	0	0	1	0	7	8					A	54804028	G	A	54804028	5	1	119	1	0	0	0	0	0	0	1	0	16983	1014	35	3	5543	3	UNC13C	15	54804028	Splice_Site	SNP	G	TCGA-EJ-A65D-01A-11D-A30E-08	914589	54804028	47727364	31	6281											
PRPF8	10594	broad.mit.edu	37	chr17	1560049	1560049	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctcctcagctgtcttccactTagccaacttaaaagcaagag	12	10	6	13	0	2	1	1	0	1	1	4	1	4	1	3	0	4	2	3	0	5	3			TCGA-EJ-A65D-01A-11D-A30E-08	TCGA-EJ-A65D-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	955a7101-36b0-4d1d-bd5b-0ab6e3adba5b	aa7b8960-9246-483f-a43b-9366501ee804	g.chr17:1560049T>C	ENST00000572621.1	-	34	5777	c.5512A>G	c.(5512-5514)Aag>Gag	p.K1838E	PRPF8_ENST00000304992.6_Missense_Mutation_p.K1838E|PRPF8_ENST00000575116.1_5'Flank			Q6P2Q9	PRP8_HUMAN	pre-mRNA processing factor 8	1838	Involved in interaction with pre-mRNA 5' splice site.|RNase H homology domain.				gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|U5 snRNP (GO:0005682)	poly(A) RNA binding (GO:0044822)|U5 snRNA binding (GO:0030623)|U6 snRNA binding (GO:0017070)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77				UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)		GTCTTCCACTTAGCCAACTTA	0.483																																						ENST00000572621.1																			0				NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77						c.(5512-5514)Aag>Gag		pre-mRNA processing factor 8							39	35	36					17																	1560049		2203	4300	6503	SO:0001583	missense	10594					catalytic step 2 spliceosome|nuclear speck|U5 snRNP	protein binding|RNA binding	g.chr17:1560049T>C	AB007510	CCDS11010.1	17p13.3	2013-07-16	2013-06-10		ENSG00000174231	ENSG00000174231			17340	protein-coding gene	gene with protein product		607300	"PRP8 pre-mRNA processing factor 8 homolog (yeast)", "PRP8 pre-mRNA processing factor 8 homolog (S. cerevisiae)"	RP13		11468273, 10411133	Standard	NM_006445		Approved	PRPC8, Prp8, hPrp8, SNRNP220	uc002fte.3	Q6P2Q9	OTTHUMG00000090553	ENST00000572621.1:c.5512A>G	17.37:g.1560049T>C	ENSP00000460348:p.Lys1838Glu					PRPF8_ENST00000304992.6_Missense_Mutation_p.K1838E	p.K1838E			Q6P2Q9	PRP8_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)	34	5777	-			1838			Involved in interaction with pre-mRNA 5' splice site.		O14547|O75965	Missense_Mutation	SNP	ENST00000572621.1	37	c.5512A>G	CCDS11010.1	.	.	.	.	.	.	.	.	.	.	t	28.6	4.936321	0.92458	.	.	ENSG00000174231	ENST00000304992;ENST00000540177	D	0.84298	-1.83	5.56	5.56	0.83823	PRP8 domain IV core (1);	0.000000	0.85682	D	0.000000	D	0.94305	0.8170	M	0.93283	3.4	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95657	0.8712	10	0.87932	D	0	.	15.7141	0.77655	0.0:0.0:0.0:1.0	.	1838	Q6P2Q9	PRP8_HUMAN	E	1838;363	ENSP00000304350:K1838E	ENSP00000304350:K1838E	K	-	1	0	PRPF8	1506799	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.040000	0.89188	2.112000	0.64535	0.533000	0.62120	AAG		0.483	PRPF8-002	NOVEL	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438412.2			4	29	0	0	0	1	0	4	29					C	1560049	T	C	1560049	3	2	119	1	0	0	0	0	1	0	0	0	12575	1763	61	4	1531	4	PRPF8	17	1560049	Missense_Mutation	SNP	T	TCGA-EJ-A65D-01A-11D-A30E-08		1560049	79635161	32	6282											
TNFRSF13B	23495	broad.mit.edu	37	chr17	16843774	16843774	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacacaggcagagccccagcGtgctgtagaccagggccacc	10	3	12	16	1	0	2	0	0	0	2	0	2	0	2	5	2	3	3	5	2	1	1			TCGA-EJ-A65D-01A-11D-A30E-08	TCGA-EJ-A65D-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	955a7101-36b0-4d1d-bd5b-0ab6e3adba5b	aa7b8960-9246-483f-a43b-9366501ee804	g.chr17:16843774G>A	ENST00000261652.2	-	4	509	c.497C>T	c.(496-498)aCg>aTg	p.T166M	TNFRSF13B_ENST00000579315.1_Intron|TNFRSF13B_ENST00000583789.1_Missense_Mutation_p.T120M|TNFRSF13B_ENST00000437538.2_Missense_Mutation_p.T120M|TNFRSF13B_ENST00000581616.2_5'Flank	NM_012452.2	NP_036584.1	O14836	TR13B_HUMAN	tumor necrosis factor receptor superfamily, member 13B	166					B cell homeostasis (GO:0001782)|cell surface receptor signaling pathway (GO:0007166)|hematopoietic progenitor cell differentiation (GO:0002244)|negative regulation of B cell proliferation (GO:0030889)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)	receptor activity (GO:0004872)			endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(7)|skin(1)	16						GAGCCCCAGCGTGCTGTAGAC	0.642									IgA Deficiency, Selective																													ENST00000437538.2																			0				endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(7)|skin(1)	16						c.(358-360)aCg>aTg		tumor necrosis factor receptor superfamily, member 13B							54	44	47					17																	16843774		2203	4300	6503	SO:0001583	missense	23495	IgA Deficiency, Selective	Familial Cancer Database	IGAD1, IGAD2	cell surface receptor linked signaling pathway	integral to plasma membrane	protein binding|receptor activity	g.chr17:16843774G>A	AF023614	CCDS11181.1	17p11.2	2014-09-17			ENSG00000240505	ENSG00000240505		"Tumor necrosis factor receptor superfamily", "CD molecules"	18153	protein-coding gene	gene with protein product		604907				9311921	Standard	NM_012452		Approved	TACI, CD267	uc002gqs.1	O14836	OTTHUMG00000059262	ENST00000261652.2:c.497C>T	17.37:g.16843774G>A	ENSP00000261652:p.Thr166Met					TNFRSF13B_ENST00000579315.1_Intron|TNFRSF13B_ENST00000583789.1_Missense_Mutation_p.T120M|TNFRSF13B_ENST00000261652.2_Missense_Mutation_p.T166M	p.T120M			O14836	TR13B_HUMAN			3	367	-			166					B2R8B0|B7Z6V8|Q32LX4|Q7Z6F5	Missense_Mutation	SNP	ENST00000261652.2	37	c.359C>T	CCDS11181.1	.	.	.	.	.	.	.	.	.	.	g	9.672	1.146999	0.21288	.	.	ENSG00000240505	ENST00000437538;ENST00000261652	D;D	0.92911	-3.13;-3.12	3.43	2.09	0.27110	.	0.517985	0.17227	N	0.182114	D	0.93318	0.7870	M	0.68952	2.095	0.23906	N	0.996503	D;D	0.89917	1.0;1.0	D;D	0.68765	0.96;0.912	D	0.84341	0.0527	10	0.72032	D	0.01	-21.4785	4.188	0.10407	0.2587:0.0:0.7413:0.0	.	120;166	O14836-2;O14836	.;TR13B_HUMAN	M	120;166	ENSP00000413453:T120M;ENSP00000261652:T166M	ENSP00000261652:T166M	T	-	2	0	TNFRSF13B	16784499	0.118000	0.22208	0.903000	0.35520	0.953000	0.61014	1.472000	0.35376	1.628000	0.50416	0.558000	0.71614	ACG		0.642	TNFRSF13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131474.2			25	31	0	0	0	1	0	25	31					A	16843774	G	A	16843774	3	1	119	1	0	0	0	0	1	0	0	0	16284	1145	40	1	392	1	TNFRSF13B	17	16843774	Missense_Mutation	SNP	G	TCGA-EJ-A65D-01A-11D-A30E-08	15283725	16843774	64351436	33	6283											
ACACA	31	broad.mit.edu	37	chr17	35470086	35470086	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tggaggagtcaatcaccaccCaggagccaccccgcagctca	11	4	10	16	1	3	0	3	0	0	0	3	3	3	3	5	3	2	2	5	3	1	0			TCGA-EJ-A65D-01A-11D-A30E-08	TCGA-EJ-A65D-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	955a7101-36b0-4d1d-bd5b-0ab6e3adba5b	aa7b8960-9246-483f-a43b-9366501ee804	g.chr17:35470086C>A	ENST00000394406.2	-	51	6468	c.6278G>T	c.(6277-6279)tGg>tTg	p.W2093L	ACACA_ENST00000353139.5_Missense_Mutation_p.W2130L|ACACA_ENST00000335166.5_Missense_Mutation_p.W2015L|ACACA_ENST00000360679.3_Missense_Mutation_p.W2035L|ACACA_ENST00000361253.5_Missense_Mutation_p.W219L	NM_198836.1	NP_942133.1	Q13085	ACACA_HUMAN	acetyl-CoA carboxylase alpha	2093	Carboxyltransferase.				acetyl-CoA metabolic process (GO:0006084)|biotin metabolic process (GO:0006768)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|lipid homeostasis (GO:0055088)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|malonyl-CoA biosynthetic process (GO:2001295)|multicellular organismal protein metabolic process (GO:0044268)|positive regulation of cellular metabolic process (GO:0031325)|protein homotetramerization (GO:0051289)|small molecule metabolic process (GO:0044281)|tissue homeostasis (GO:0001894)|triglyceride biosynthetic process (GO:0019432)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	acetyl-CoA carboxylase activity (GO:0003989)|ATP binding (GO:0005524)|biotin carboxylase activity (GO:0004075)|metal ion binding (GO:0046872)			NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	AATCACCACCCAGGAGCCACC	0.557																																					Colon(23;82 258 739 2117 10493 24037 27661 34815 35438 36249)	ENST00000353139.5																			0				NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83						c.(6388-6390)tGg>tTg		acetyl-CoA carboxylase alpha	Biotin(DB00121)						72	65	67					17																	35470086		2203	4300	6503	SO:0001583	missense	31				acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding	g.chr17:35470086C>A	U19822	CCDS11317.1, CCDS11318.1, CCDS42302.1, CCDS42303.1	17q21	2014-05-06	2010-04-30		ENSG00000132142	ENSG00000278540	6.4.1.2		84	protein-coding gene	gene with protein product	"acetyl-CoA carboxylase 1"	200350	"acetyl-Coenzyme A carboxylase alpha"	ACAC, ACC			Standard	NM_198837		Approved	ACC1	uc002hno.3	Q13085	OTTHUMG00000188463	ENST00000394406.2:c.6278G>T	17.37:g.35470086C>A	ENSP00000377928:p.Trp2093Leu					ACACA_ENST00000394406.2_Missense_Mutation_p.W2093L|ACACA_ENST00000361253.5_Missense_Mutation_p.W219L|ACACA_ENST00000360679.3_Missense_Mutation_p.W2035L|ACACA_ENST00000335166.5_Missense_Mutation_p.W2015L	p.W2130L	NM_198834.1|NM_198839.1	NP_942131.1|NP_942136.1	Q13085	ACACA_HUMAN			51	6870	-		Breast(25;0.00157)|Ovarian(249;0.15)	2093			Carboxyltransferase.		B2RP68|Q6KEV6|Q6XDA8|Q7Z2G8|Q7Z561|Q7Z563|Q7Z564|Q86WB2|Q86WB3	Missense_Mutation	SNP	ENST00000394406.2	37	c.6389G>T	CCDS11317.1	.	.	.	.	.	.	.	.	.	.	C	35	5.553245	0.96501	.	.	ENSG00000132142	ENST00000353139;ENST00000360679;ENST00000394406;ENST00000452074;ENST00000335166;ENST00000427330;ENST00000361253	D;D;D;D;D	0.97752	-4.52;-4.52;-4.52;-4.52;-4.52	5.93	5.93	0.95920	Acetyl-coenzyme A carboxyltransferase, C-terminal (1);Carboxyl transferase (1);	0.000000	0.85682	D	0.000000	D	0.99223	0.9730	H	0.95260	3.645	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;1.0;1.0;0.999;1.0	D	0.98979	1.0804	10	0.87932	D	0	-8.1107	20.3539	0.98825	0.0:1.0:0.0:0.0	.	131;792;2130;2093;2035	B4DIG6;F8W6G0;Q13085-4;Q13085;Q13085-2	.;.;.;ACACA_HUMAN;.	L	2130;2035;2093;2117;2015;792;219	ENSP00000344789:W2130L;ENSP00000353898:W2035L;ENSP00000377928:W2093L;ENSP00000335323:W2015L;ENSP00000354565:W219L	ENSP00000335323:W2015L	W	-	2	0	ACACA	32544199	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.818000	0.86416	2.826000	0.97356	0.655000	0.94253	TGG		0.557	ACACA-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256696.1	NM_198836		26	42	1	0	5.45024e-15	1	6.04481e-15	26	42					A	35470086	C	A	35470086	3	1	119	1	0	0	0	0	1	0	0	0	106	595	21	5	786	5	ACACA	17	35470086	Missense_Mutation	SNP	C	TCGA-EJ-A65D-01A-11D-A30E-08	18626312	35470086	45725124	34	6284											
KRT39	390792	broad.mit.edu	37	chr17	39119985	39119985	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cattcaggatctgcttgaggCcattggcatctgactctacc	8	12	9	12	0	4	2	1	2	3	0	4	3	4	3	2	3	2	2	2	3	1	4			TCGA-EJ-A65D-01A-11D-A30E-08	TCGA-EJ-A65D-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	955a7101-36b0-4d1d-bd5b-0ab6e3adba5b	aa7b8960-9246-483f-a43b-9366501ee804	g.chr17:39119985C>T	ENST00000355612.2	-	3	637	c.602G>A	c.(601-603)gGc>gAc	p.G201D	AC004231.2_ENST00000418393.1_RNA	NM_213656.3	NP_998821.3	Q6A163	K1C39_HUMAN	keratin 39	201	Coil 1B.|Rod.					intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	17		Breast(137;0.00043)|Ovarian(249;0.15)				CTGCTTGAGGCCATTGGCATC	0.502																																						ENST00000355612.2																			0				NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	17						c.(601-603)gGc>gAc		keratin 39							138	123	128					17																	39119985		2203	4296	6499	SO:0001583	missense	390792					intermediate filament	structural molecule activity	g.chr17:39119985C>T	AJ786657	CCDS11382.1	17q21.2	2013-01-16			ENSG00000196859	ENSG00000196859		"-", "Intermediate filaments type I, keratins (acidic)"	32971	protein-coding gene	gene with protein product						16831889	Standard	NM_213656		Approved	KA35	uc002hvo.1	Q6A163	OTTHUMG00000133424	ENST00000355612.2:c.602G>A	17.37:g.39119985C>T	ENSP00000347823:p.Gly201Asp					AC004231.2_ENST00000418393.1_RNA	p.G201D	NM_213656.3	NP_998821.3	Q6A163	K1C39_HUMAN			3	637	-		Breast(137;0.00043)|Ovarian(249;0.15)	201			Coil 1B.|Rod.		B2RXK6|Q6IFU6	Missense_Mutation	SNP	ENST00000355612.2	37	c.602G>A	CCDS11382.1	.	.	.	.	.	.	.	.	.	.	C	16.22	3.062791	0.55432	.	.	ENSG00000196859	ENST00000355612	D	0.88741	-2.42	5.54	3.49	0.39957	Filament (1);	0.602886	0.14982	N	0.287199	D	0.95758	0.8620	M	0.93854	3.465	0.32405	N	0.551457	D	0.76494	0.999	D	0.74023	0.982	D	0.96094	0.9064	10	0.87932	D	0	.	15.1846	0.72989	0.0:0.595:0.405:0.0	.	201	Q6A163	K1C39_HUMAN	D	201	ENSP00000347823:G201D	ENSP00000347823:G201D	G	-	2	0	KRT39	36373511	0.756000	0.28383	0.384000	0.26145	0.422000	0.31414	1.480000	0.35464	0.670000	0.31165	-0.181000	0.13052	GGC		0.502	KRT39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257287.1	NM_213656		4	101	0	0	0	1	0	4	101					T	39119985	C	T	39119985	3	4	119	1	0	0	0	0	1	0	0	0	8476	739	26	3	893	3	KRT39	17	39119985	Missense_Mutation	SNP	C	TCGA-EJ-A65D-01A-11D-A30E-08	3649899	39119985	42075225	35	6285											
PCYT2	5833	broad.mit.edu	37	chr17	79865686	79865686	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctttggttaccagcagcatgCggcccacgaggtctgtggtg	6	10	14	11	2	1	0	0	0	1	0	1	1	1	0	2	4	4	3	2	4	1	2			TCGA-EJ-A65D-01A-11D-A30E-08	TCGA-EJ-A65D-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	955a7101-36b0-4d1d-bd5b-0ab6e3adba5b	aa7b8960-9246-483f-a43b-9366501ee804	g.chr17:79865686C>T	ENST00000538936.2	-	5	563	c.455G>A	c.(454-456)cGc>cAc	p.R152H	PCYT2_ENST00000538721.2_Missense_Mutation_p.R152H|PCYT2_ENST00000331285.3_Missense_Mutation_p.R74H|PCYT2_ENST00000570388.1_Missense_Mutation_p.R74H|PCYT2_ENST00000570391.1_Missense_Mutation_p.R120H|PCYT2_ENST00000571105.1_Missense_Mutation_p.R152H	NM_001256435.1|NM_002861.3	NP_001243364.1|NP_002852.1	Q99447	PCY2_HUMAN	phosphate cytidylyltransferase 2, ethanolamine	152					glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid biosynthetic process (GO:0008654)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)	ethanolamine-phosphate cytidylyltransferase activity (GO:0004306)			breast(2)|endometrium(1)|lung(4)|ovary(1)	8	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.013)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)		Lamivudine(DB00709)	CAGCAGCATGCGGCCCACGAG	0.652																																						ENST00000538936.2																			0				breast(2)|endometrium(1)|lung(4)|ovary(1)	8						c.(454-456)cGc>cAc		phosphate cytidylyltransferase 2, ethanolamine							77	59	65					17																	79865686		2203	4300	6503	SO:0001583	missense	5833				phospholipid biosynthetic process		ethanolamine-phosphate cytidylyltransferase activity	g.chr17:79865686C>T	D84307	CCDS11791.1, CCDS54178.1, CCDS58610.1, CCDS62364.1	17q25.3	2008-07-18				ENSG00000185813			8756	protein-coding gene	gene with protein product		602679				9083101	Standard	XM_005256386		Approved	ET	uc002kch.2	Q99447		ENST00000538936.2:c.455G>A	17.37:g.79865686C>T	ENSP00000439245:p.Arg152His					PCYT2_ENST00000538721.2_Missense_Mutation_p.R152H|PCYT2_ENST00000331285.3_Missense_Mutation_p.R74H|PCYT2_ENST00000570388.1_Missense_Mutation_p.R74H|PCYT2_ENST00000570391.1_Missense_Mutation_p.R120H|PCYT2_ENST00000571105.1_Missense_Mutation_p.R152H	p.R152H	NM_001256435.1|NM_002861.3	NP_001243364.1|NP_002852.1	Q99447	PCY2_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.013)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)		5	563	-	all_neural(118;0.0878)|Ovarian(332;0.12)		152			Catalytic 1 (Potential).		B7Z7A5|B7ZAS0|F5H8B1|Q6IBM3|Q96G08	Missense_Mutation	SNP	ENST00000538936.2	37	c.455G>A	CCDS11791.1	.	.	.	.	.	.	.	.	.	.	C	35	5.467064	0.96257	.	.	ENSG00000185813	ENST00000538721;ENST00000538936;ENST00000331285	.	.	.	4.48	4.48	0.54585	Rossmann-like alpha/beta/alpha sandwich fold (1);	0.000000	0.85682	D	0.000000	D	0.91012	0.7173	H	0.99261	4.49	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0	D	0.94808	0.7976	9	0.62326	D	0.03	-28.9973	17.3427	0.87301	0.0:1.0:0.0:0.0	.	120;120;152;74;152	B7Z4W6;B7ZAS0;F5H8B1;B7Z7A5;Q99447	.;.;.;.;PCY2_HUMAN	H	152;152;74	.	ENSP00000331719:R74H	R	-	2	0	PCYT2	77458978	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	5.463000	0.66712	2.303000	0.77524	0.655000	0.94253	CGC		0.652	PCYT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439939.1	NM_002861		4	61	0	0	0	1	0	4	61					T	79865686	C	T	79865686	3	4	119	1	0	0	0	0	1	0	0	0	11612	768	27	1	808	1	PCYT2	17	79865686	Missense_Mutation	SNP	C	TCGA-EJ-A65D-01A-11D-A30E-08	40745701	79865686	1329524	36	6286											
DLGAP1	9229	broad.mit.edu	37	chr18	3879237	3879237	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtgagcgtggaggaccaggCgctcttcttcagcagcgggg	6	7	18	10	3	3	1	1	1	2	0	3	3	3	3	1	6	3	2	1	6	0	2	rs113585667		TCGA-EJ-A65D-01A-11D-A30E-08	TCGA-EJ-A65D-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	955a7101-36b0-4d1d-bd5b-0ab6e3adba5b	aa7b8960-9246-483f-a43b-9366501ee804	g.chr18:3879237C>T	ENST00000315677.3	-	4	1427	c.832G>A	c.(832-834)Gcc>Acc	p.A278T	DLGAP1_ENST00000584874.1_Missense_Mutation_p.A278T|DLGAP1-AS3_ENST00000577649.1_RNA|DLGAP1_ENST00000581527.1_Missense_Mutation_p.A278T|DLGAP1_ENST00000515196.2_Missense_Mutation_p.A278T	NM_004746.3	NP_004737.2	O14490	DLGP1_HUMAN	discs, large (Drosophila) homolog-associated protein 1	278					synaptic transmission (GO:0007268)	cell junction (GO:0030054)|neuronal postsynaptic density (GO:0097481)|postsynaptic membrane (GO:0045211)				breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	56		Colorectal(8;0.0257)				GAGGACCAGGCGCTCTTCTTC	0.652																																						ENST00000315677.3																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	56						c.(832-834)Gcc>Acc		discs, large (Drosophila) homolog-associated protein 1							56	53	54					18																	3879237		2203	4300	6503	SO:0001583	missense	9229				synaptic transmission	cell junction|postsynaptic density|postsynaptic membrane		g.chr18:3879237C>T	AB000277	CCDS11836.1, CCDS42406.1, CCDS56049.1, CCDS56050.1, CCDS56051.1, CCDS56052.1, CCDS56053.1, CCDS74191.1	18p11.3	2008-07-28	2001-11-28		ENSG00000170579	ENSG00000170579			2905	protein-coding gene	gene with protein product		605445	"discs, large (Drosophila) homolog-associated protein 1"			9024696, 9286858	Standard	NM_004746		Approved	GKAP, SAPAP1, DAP-1	uc002kmf.3	O14490	OTTHUMG00000131537	ENST00000315677.3:c.832G>A	18.37:g.3879237C>T	ENSP00000316377:p.Ala278Thr					DLGAP1_ENST00000581527.1_Missense_Mutation_p.A278T|DLGAP1-AS3_ENST00000577649.1_RNA|DLGAP1_ENST00000584874.1_Missense_Mutation_p.A278T|DLGAP1_ENST00000515196.2_Missense_Mutation_p.A278T	p.A278T	NM_004746.3	NP_004737.2	O14490	DLGP1_HUMAN			4	1427	-		Colorectal(8;0.0257)	278					A8MWN8|B2RMU8|B7WPA1|B7Z2H2|B7Z2I2|B7Z9Y4|O14489|P78335	Missense_Mutation	SNP	ENST00000315677.3	37	c.832G>A	CCDS11836.1	.	.	.	.	.	.	.	.	.	.	C	16.76	3.212225	0.58452	.	.	ENSG00000170579	ENST00000315677;ENST00000515196	T;T	0.14022	2.54;2.54	5.51	4.58	0.56647	.	0.184023	0.49305	D	0.000142	T	0.07683	0.0193	N	0.14661	0.345	0.37849	D	0.929314	B;P;B	0.45240	0.205;0.854;0.033	B;B;B	0.37144	0.038;0.242;0.011	T	0.27123	-1.0083	10	0.39692	T	0.17	-24.3113	11.6909	0.51514	0.3485:0.6515:0.0:0.0	.	278;278;278	B7Z9Y4;Q6IS01;O14490	.;.;DLGP1_HUMAN	T	278	ENSP00000316377:A278T;ENSP00000445973:A278T	ENSP00000316377:A278T	A	-	1	0	DLGAP1	3869237	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	6.347000	0.73004	2.605000	0.88082	0.655000	0.94253	GCC		0.652	DLGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254394.4			43	44	0	0	0	1	0	43	44					T	3879237	C	T	3879237	3	4	119	1	0	0	0	0	1	0	0	0	4559	768	27	1	2196	1	DLGAP1	18	3879237	Missense_Mutation	SNP	C	TCGA-EJ-A65D-01A-11D-A30E-08		3879237	74198011	37	6287											
GSK3A	2931	broad.mit.edu	37	chr19	42738561	42738561	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gctctggggcccggtagtagCgagaacagatgtaggagaca	11	6	16	8	2	1	3	0	0	1	3	1	5	1	3	1	4	2	4	1	4	4	3			TCGA-EJ-A65D-01A-11D-A30E-08	TCGA-EJ-A65D-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	955a7101-36b0-4d1d-bd5b-0ab6e3adba5b	aa7b8960-9246-483f-a43b-9366501ee804	g.chr19:42738561C>T	ENST00000222330.3	-	6	975	c.848G>A	c.(847-849)cGc>cAc	p.R283H	GSK3A_ENST00000398249.4_Missense_Mutation_p.R201H	NM_019884.2	NP_063937.2	P49840	GSK3A_HUMAN	glycogen synthase kinase 3 alpha	283	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cardiac left ventricle morphogenesis (GO:0003214)|cell migration (GO:0016477)|cellular protein metabolic process (GO:0044267)|cellular response to insulin stimulus (GO:0032869)|cellular response to interleukin-3 (GO:0036016)|cellular response to lithium ion (GO:0071285)|cellular response to organic cyclic compound (GO:0071407)|endoplasmic reticulum unfolded protein response (GO:0030968)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glycogen metabolic process (GO:0005977)|hypermethylation of CpG island (GO:0044027)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell growth involved in cardiac muscle cell development (GO:0061052)|negative regulation of glucose import (GO:0046325)|negative regulation of glycogen (starch) synthase activity (GO:2000466)|negative regulation of glycogen biosynthetic process (GO:0045719)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of TOR signaling (GO:0032007)|negative regulation of transferase activity (GO:0051348)|negative regulation of type B pancreatic cell development (GO:2000077)|negative regulation of UDP-glucose catabolic process (GO:0010905)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of adrenergic receptor signaling pathway (GO:0071879)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of glycogen (starch) synthase activity (GO:2000467)|positive regulation of heart contraction (GO:0045823)|positive regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway (GO:1901030)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein phosphorylation (GO:0006468)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of systemic arterial blood pressure (GO:0003073)|Wnt signaling pathway (GO:0016055)	beta-catenin destruction complex (GO:0030877)|cytosol (GO:0005829)	ATP binding (GO:0005524)|protein kinase A catalytic subunit binding (GO:0034236)|protein serine/threonine kinase activity (GO:0004674)|tau-protein kinase activity (GO:0050321)			endometrium(3)|large_intestine(3)|lung(6)|ovary(3)|prostate(2)|skin(1)|urinary_tract(1)	19		Prostate(69;0.00682)				CCGGTAGTAGCGAGAACAGAT	0.587																																						ENST00000398249.4																			0				endometrium(3)|large_intestine(3)|lung(6)|ovary(3)|prostate(2)|skin(1)|urinary_tract(1)	19						c.(601-603)cGc>cAc		glycogen synthase kinase 3 alpha							102	93	96					19																	42738561		2203	4300	6503	SO:0001583	missense	2931				insulin receptor signaling pathway|negative regulation of glucose import|negative regulation of insulin receptor signaling pathway|negative regulation of transferase activity|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of protein catabolic process	beta-catenin destruction complex|cytosol	ATP binding|protein kinase A catalytic subunit binding|protein serine/threonine kinase activity|tau-protein kinase activity	g.chr19:42738561C>T		CCDS12599.1	19q13	2008-02-15			ENSG00000105723	ENSG00000105723			4616	protein-coding gene	gene with protein product		606784				9809441	Standard	NM_019884		Approved		uc002otb.1	P49840	OTTHUMG00000150722	ENST00000222330.3:c.848G>A	19.37:g.42738561C>T	ENSP00000222330:p.Arg283His					GSK3A_ENST00000222330.3_Missense_Mutation_p.R283H	p.R201H			P49840	GSK3A_HUMAN			5	2315	-		Prostate(69;0.00682)	283			Protein kinase.		O14959	Missense_Mutation	SNP	ENST00000222330.3	37	c.602G>A	CCDS12599.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.333166	0.81801	.	.	ENSG00000105723	ENST00000222330;ENST00000398249;ENST00000544315	T;T	0.46451	0.87;0.87	4.67	3.64	0.41730	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.072859	0.56097	N	0.000038	T	0.66752	0.2821	M	0.87682	2.9	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.994	T	0.72381	-0.4311	10	0.87932	D	0	-23.9813	11.7904	0.52065	0.0:0.9123:0.0:0.0877	.	283;201	P49840;A8MT37	GSK3A_HUMAN;.	H	283;201;228	ENSP00000222330:R283H;ENSP00000381301:R201H	ENSP00000222330:R283H	R	-	2	0	GSK3A	47430401	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	7.137000	0.77295	1.101000	0.41535	0.313000	0.20887	CGC		0.587	GSK3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319782.1			5	91	0	0	0	1	0	5	91					T	42738561	C	T	42738561	3	4	119	1	0	0	0	0	1	0	0	0	6823	768	27	1	627	1	GSK3A	19	42738561	Missense_Mutation	SNP	C	TCGA-EJ-A65D-01A-11D-A30E-08		42738561	16390422	38	6288											
INPP5J	27124	broad.mit.edu	37	chr22	31530082	31530082	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggttccctgggcttgccctaCggccctcatcccgtgaacgc	4	9	11	17	3	1	1	1	1	0	0	3	1	3	1	4	3	3	2	4	3	2	3			TCGA-EJ-A65D-01A-11D-A30E-08	TCGA-EJ-A65D-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	955a7101-36b0-4d1d-bd5b-0ab6e3adba5b	aa7b8960-9246-483f-a43b-9366501ee804	g.chr22:31530082C>T	ENST00000331075.5	+	13	2747	c.2698C>T	c.(2698-2700)Cgg>Tgg	p.R900W	INPP5J_ENST00000400294.2_Missense_Mutation_p.R533W|INPP5J_ENST00000404390.3_Missense_Mutation_p.R532W|INPP5J_ENST00000401755.1_Missense_Mutation_p.R265W|INPP5J_ENST00000402238.1_Missense_Mutation_p.R239W|INPP5J_ENST00000404453.1_Missense_Mutation_p.R265W|INPP5J_ENST00000405300.1_Missense_Mutation_p.R533W|INPP5J_ENST00000412277.2_Missense_Mutation_p.R833W	NM_001284285.1	NP_001271214.1	Q15735	PI5PA_HUMAN	inositol polyphosphate-5-phosphatase J	900	Ser-rich.				inositol phosphate metabolic process (GO:0043647)|negative regulation of microtubule polymerization (GO:0031115)|negative regulation of neuron projection development (GO:0010977)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|growth cone (GO:0030426)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	inositol-1,3,4,5-tetrakisphosphate 5-phosphatase activity (GO:0052659)|inositol-1,4,5-trisphosphate 5-phosphatase activity (GO:0052658)|inositol-polyphosphate 5-phosphatase activity (GO:0004445)|phosphatidylinositol-3,4,5-trisphosphate 5-phosphatase activity (GO:0034485)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(1)	12						GCTTGCCCTACGGCCCTCATC	0.692																																						ENST00000331075.5																			0				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(1)	12						c.(2698-2700)Cgg>Tgg		inositol polyphosphate-5-phosphatase J							9	14	12					22																	31530082		1914	4058	5972	SO:0001583	missense	27124					cytoplasm|ruffle	inositol 1,3,4,5-tetrakisphosphate 5-phosphatase activity|inositol-1,4,5-trisphosphate 5-phosphatase activity|inositol-polyphosphate 5-phosphatase activity|SH3 domain binding	g.chr22:31530082C>T	U45975	CCDS46687.1, CCDS63453.1, CCDS63454.1, CCDS63455.1, CCDS74847.1	22q12.2	2008-09-09	2008-09-09	2008-09-09	ENSG00000185133	ENSG00000185133			8956	protein-coding gene	gene with protein product		606481	"phosphatidylinositol (4,5) bisphosphate 5-phosphatase, A"	PIB5PA		10591208	Standard	NM_001284287		Approved	INPP5	uc003aju.4	Q15735	OTTHUMG00000151206	ENST00000331075.5:c.2698C>T	22.37:g.31530082C>T	ENSP00000333262:p.Arg900Trp					INPP5J_ENST00000402238.1_Missense_Mutation_p.R239W|INPP5J_ENST00000401755.1_Missense_Mutation_p.R265W|INPP5J_ENST00000405300.1_Missense_Mutation_p.R533W|INPP5J_ENST00000412277.2_Missense_Mutation_p.R833W|INPP5J_ENST00000400294.2_Missense_Mutation_p.R533W|INPP5J_ENST00000404390.3_Missense_Mutation_p.R532W|INPP5J_ENST00000404453.1_Missense_Mutation_p.R265W	p.R900W			Q15735	PI5PA_HUMAN			13	2747	+			900			Ser-rich.		B3KS54|Q32M61|Q6ZTH6|Q8N902|Q9UDT9	Missense_Mutation	SNP	ENST00000331075.5	37	c.2698C>T		.	.	.	.	.	.	.	.	.	.	C	18.60	3.659579	0.67586	.	.	ENSG00000185133	ENST00000331075;ENST00000412277;ENST00000400294;ENST00000405300;ENST00000404390;ENST00000402238;ENST00000404453;ENST00000401755	D;D;D;D;D;D;D;D	0.98937	-4.68;-4.68;-5.25;-5.25;-5.24;-5.13;-4.09;-4.09	5.54	4.49	0.54785	.	0.250143	0.28104	N	0.016588	D	0.97464	0.9170	L	0.27053	0.805	0.09310	N	1	D;D;D;D	0.71674	0.998;0.978;0.998;0.987	P;B;P;P	0.53861	0.736;0.306;0.549;0.502	D	0.93455	0.6805	10	0.87932	D	0	.	15.446	0.75232	0.1394:0.8606:0.0:0.0	.	533;239;900;532	Q15735-2;B5MCL8;Q15735;Q15735-3	.;.;PI5PA_HUMAN;.	W	900;833;533;533;532;239;265;265	ENSP00000333262:R900W;ENSP00000392924:R833W;ENSP00000383150:R533W;ENSP00000384596:R533W;ENSP00000384534:R532W;ENSP00000385264:R239W;ENSP00000385343:R265W;ENSP00000384540:R265W	ENSP00000333262:R900W	R	+	1	2	INPP5J	29860082	0.952000	0.32445	0.886000	0.34754	0.972000	0.66771	2.747000	0.47475	2.610000	0.88304	0.655000	0.94253	CGG		0.692	INPP5J-002	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000321784.1	NM_001002837		4	4	0	0	0	1	0	4	4					T	31530082	C	T	31530082	3	4	119	1	0	0	0	0	1	0	0	0	7759	527	19	1	1644	1	INPP5J	22	31530082	Missense_Mutation	SNP	C	TCGA-EJ-A65D-01A-11D-A30E-08		31530082	19774484	39	6289											
CACNA1F	778	broad.mit.edu	37	chrX	49069198	49069198	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	actgagaagcttgaccagccGcataactcggaagaggcgaa	14	5	12	10	3	0	3	0	2	0	2	1	6	0	4	2	2	3	2	2	2	4	2			TCGA-EJ-A65D-01A-11D-A30E-08	TCGA-EJ-A65D-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	955a7101-36b0-4d1d-bd5b-0ab6e3adba5b	aa7b8960-9246-483f-a43b-9366501ee804	g.chrX:49069198G>A	ENST00000376265.2	-	33	3965	c.3904C>T	c.(3904-3906)Cgg>Tgg	p.R1302W	CACNA1F_ENST00000376251.1_Missense_Mutation_p.R1237W|CACNA1F_ENST00000323022.5_Missense_Mutation_p.R1291W	NM_005183.2	NP_005174.2	O60840	CAC1F_HUMAN	calcium channel, voltage-dependent, L type, alpha 1F subunit	1302					axonogenesis (GO:0007409)|calcium ion import (GO:0070509)|cellular calcium ion homeostasis (GO:0006874)|dendrite morphogenesis (GO:0048813)|detection of light stimulus involved in visual perception (GO:0050908)|membrane depolarization during action potential (GO:0086010)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|perikaryon (GO:0043204)|photoreceptor outer segment (GO:0001750)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			autonomic_ganglia(1)|breast(8)|central_nervous_system(3)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(4)|urinary_tract(1)	85					Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Nimodipine(DB00393)|Spironolactone(DB00421)|Verapamil(DB00661)	TTGACCAGCCGCATAACTCGG	0.522																																						ENST00000376265.2																			0				autonomic_ganglia(1)|breast(8)|central_nervous_system(3)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(4)|urinary_tract(1)	85						c.(3904-3906)Cgg>Tgg		calcium channel, voltage-dependent, L type, alpha 1F subunit	Verapamil(DB00661)						56	48	51					X																	49069198		2203	4300	6503	SO:0001583	missense	778				axon guidance|detection of light stimulus involved in visual perception	voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity	g.chrX:49069198G>A	AA019975	CCDS35253.1, CCDS59166.1, CCDS59167.1	Xp11.23	2013-01-23	2007-02-16		ENSG00000102001	ENSG00000102001		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1393	protein-coding gene	gene with protein product		300110	"Aland island eye disease (Forsius-Eriksson ocular albinism, ocular albinism type 2)"	CSNB2, AIED		9344658, 9662400, 16382099, 12111638, 17525176	Standard	NM_005183		Approved	Cav1.4, JM8, JMC8, CSNBX2, CORDX3, CSNB2A, OA2	uc010nip.3	O60840	OTTHUMG00000022703	ENST00000376265.2:c.3904C>T	X.37:g.49069198G>A	ENSP00000365441:p.Arg1302Trp					CACNA1F_ENST00000323022.5_Missense_Mutation_p.R1291W|CACNA1F_ENST00000376251.1_Missense_Mutation_p.R1237W	p.R1302W	NM_005183.2	NP_005174.2	O60840	CAC1F_HUMAN			33	3965	-			1302					A6NI29|F5CIQ9|O43901|O95226|Q9UHB1	Missense_Mutation	SNP	ENST00000376265.2	37	c.3904C>T	CCDS35253.1	.	.	.	.	.	.	.	.	.	.	G	15.69	2.907552	0.52333	.	.	ENSG00000102001	ENST00000376251;ENST00000323022;ENST00000376265	D;D;D	0.99652	-6.3;-6.3;-6.3	4.75	-2.62	0.06152	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99809	0.9917	H	0.99783	4.775	0.52099	D	0.999941	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.97388	0.9987	10	0.87932	D	0	.	15.3958	0.74790	0.0:0.0:0.4232:0.5768	.	1291;1302	F5CIQ9;O60840	.;CAC1F_HUMAN	W	1237;1291;1302	ENSP00000365427:R1237W;ENSP00000321618:R1291W;ENSP00000365441:R1302W	ENSP00000321618:R1291W	R	-	1	2	CACNA1F	48956142	0.997000	0.39634	0.949000	0.38748	0.974000	0.67602	0.274000	0.18680	-0.436000	0.07254	-0.307000	0.09154	CGG		0.522	CACNA1F-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358157.1	NM_005183		3	8	0	0	0	1	0	3	8					A	49069198	G	A	49069198	3	1	119	1	0	0	0	0	1	0	0	0	2543	1086	38	1	2093	1	CACNA1F	23	49069198	Missense_Mutation	SNP	G	TCGA-EJ-A65D-01A-11D-A30E-08		49069198	106201362	40	6290											
GNB1	2782	broad.mit.edu	37	chr1	1722002	1722002	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtgtgtccggtaaacgtggtCgtctgctggccggtctcgat	4	12	15	10	5	2	0	0	0	2	0	5	1	3	0	2	4	2	2	2	4	2	1			TCGA-EJ-A65E-01A-11D-A29Q-08	TCGA-EJ-A65E-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	914ddd96-a9b1-469b-8114-ed57c1184729	dcb67253-4e94-409e-a5cf-5a86196c1877	g.chr1:1722002C>T	ENST00000378609.4	-	9	862	c.531G>A	c.(529-531)acG>acA	p.T177T		NM_001282539.1|NM_002074.3	NP_001269468.1|NP_002065.1	P62873	GBB1_HUMAN	guanine nucleotide binding protein (G protein), beta polypeptide 1	177					adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|blood coagulation (GO:0007596)|cellular response to catecholamine stimulus (GO:0071870)|cellular response to glucagon stimulus (GO:0071377)|cellular response to prostaglandin E stimulus (GO:0071380)|energy reserve metabolic process (GO:0006112)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|GTP catabolic process (GO:0006184)|phototransduction, visible light (GO:0007603)|platelet activation (GO:0030168)|Ras protein signal transduction (GO:0007265)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|intracellular (GO:0005622)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|photoreceptor disc membrane (GO:0097381)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	GTPase activity (GO:0003924)|GTPase binding (GO:0051020)|protein complex binding (GO:0032403)|signal transducer activity (GO:0004871)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	12	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;5.62e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;1.14e-35)|OV - Ovarian serous cystadenocarcinoma(86;7.31e-23)|GBM - Glioblastoma multiforme(42;3.1e-07)|COAD - Colon adenocarcinoma(227;0.000323)|Colorectal(212;0.000374)|Kidney(185;0.00392)|BRCA - Breast invasive adenocarcinoma(365;0.00573)|STAD - Stomach adenocarcinoma(132;0.0072)|KIRC - Kidney renal clear cell carcinoma(229;0.0482)|Lung(427;0.236)		TAAACGTGGTCGTCTGCTGGC	0.542																																						ENST00000378609.4																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	12						c.(529-531)acG>acA		guanine nucleotide binding protein (G protein), beta polypeptide 1							128	92	104					1																	1722002		2203	4300	6503	SO:0001819	synonymous_variant	2782				cellular response to glucagon stimulus|energy reserve metabolic process|muscarinic acetylcholine receptor signaling pathway|platelet activation|Ras protein signal transduction|synaptic transmission	heterotrimeric G-protein complex	GTPase activity|GTPase binding|signal transducer activity	g.chr1:1722002C>T	BC004186	CCDS34.1, CCDS72685.1	1p36.33	2013-01-10			ENSG00000078369	ENSG00000078369		"WD repeat domain containing"	4396	protein-coding gene	gene with protein product		139380					Standard	NM_002074		Approved		uc001aif.3	P62873	OTTHUMG00000000940	ENST00000378609.4:c.531G>A	1.37:g.1722002C>T							p.T177T	NM_002074.3	NP_002065.1	P62873	GBB1_HUMAN		Epithelial(90;1.14e-35)|OV - Ovarian serous cystadenocarcinoma(86;7.31e-23)|GBM - Glioblastoma multiforme(42;3.1e-07)|COAD - Colon adenocarcinoma(227;0.000323)|Colorectal(212;0.000374)|Kidney(185;0.00392)|BRCA - Breast invasive adenocarcinoma(365;0.00573)|STAD - Stomach adenocarcinoma(132;0.0072)|KIRC - Kidney renal clear cell carcinoma(229;0.0482)|Lung(427;0.236)	9	862	-	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;5.62e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)	177					B1AJZ7|P04697|P04901|Q1RMY8	Silent	SNP	ENST00000378609.4	37	c.531G>A	CCDS34.1	.	.	.	.	.	.	.	.	.	.	C	10.54	1.379437	0.24944	.	.	ENSG00000078369	ENST00000424622	.	.	.	5.11	-6.65	0.01795	.	.	.	.	.	T	0.53867	0.1823	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.58775	-0.7577	4	.	.	.	-13.1096	11.926	0.52819	0.0:0.112:0.1104:0.7776	.	.	.	.	Q	35	.	.	R	-	2	0	GNB1	1711862	0.000000	0.05858	0.883000	0.34634	0.943000	0.58893	-2.388000	0.01059	-1.244000	0.02516	-0.768000	0.03414	CGA		0.542	GNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000002762.3	NM_002074		12	35	0	0	0	1	0	12	35					T	1722002	C	T	1722002	2	4	120	1	0	0	0	0	0	0	0	1	6515	871	31	2		2	GNB1	1	1722002	Silent	SNP	C	TCGA-EJ-A65E-01A-11D-A29Q-08		1722002	247528619	1	6291											
KANK4	163782	broad.mit.edu	37	chr1	62718880	62718880	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgatggtccacattgcagacGcctgcaagagaagcaatggg	12	7	13	9	1	0	3	0	1	0	2	1	4	1	3	2	2	3	3	2	2	3	1	rs148060294	byFrequency	TCGA-EJ-A65E-01A-11D-A29Q-08	TCGA-EJ-A65E-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	914ddd96-a9b1-469b-8114-ed57c1184729	dcb67253-4e94-409e-a5cf-5a86196c1877	g.chr1:62718880G>T	ENST00000371153.4	-	8	2919	c.2541C>A	c.(2539-2541)ggC>ggA	p.G847G	KANK4_ENST00000354381.3_Splice_Site_p.G219G|KANK4_ENST00000371150.1_Splice_Site_p.G203G|KANK4_ENST00000317477.4_5'UTR	NM_181712.4	NP_859063.3	Q5T7N3	KANK4_HUMAN	KN motif and ankyrin repeat domains 4	847						cytoplasm (GO:0005737)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(49)|ovary(3)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	81						CATTGCAGACGCCTGCAAGAG	0.537																																						ENST00000371153.4																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(49)|ovary(3)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	81						c.e8-1		KN motif and ankyrin repeat domains 4		G		0,4406		0,0,2203	86	84	85		2541	-9.8	0.5	1	dbSNP_134	85	7,8593	5.7+/-21.5	0,7,4293	yes	coding-synonymous-near-splice	KANK4	NM_181712.4		0,7,6496	TT,TG,GG		0.0814,0.0,0.0538		847/996	62718880	7,12999	2203	4300	6503	SO:0001630	splice_region_variant	163782							g.chr1:62718880G>T	AK096259	CCDS620.1	1p31.3	2013-10-11	2008-01-29	2008-01-29	ENSG00000132854	ENSG00000132854		"KN motif and ankyrin repeat domain containing", "Ankyrin repeat domain containing"	27263	protein-coding gene	gene with protein product		614612	"ankyrin repeat domain 38"	ANKRD38		17996375, 19554261	Standard	NM_181712		Approved	KIAA0172	uc001dah.4	Q5T7N3	OTTHUMG00000008971	ENST00000371153.4:c.2540-1C>A	1.37:g.62718880G>T						KANK4_ENST00000354381.3_Splice_Site_p.G219_splice|KANK4_ENST00000371150.1_Splice_Site_p.G203_splice|KANK4_ENST00000317477.4_5'UTR	p.G847_splice	NM_181712.4	NP_859063.3	Q5T7N3	KANK4_HUMAN			8	2919	-			847					B1ALP7|Q6P9A0|Q86T71|Q86VE6|Q8NAX3	Splice_Site	SNP	ENST00000371153.4	37	c.2539_splice	CCDS620.1																																																																																				0.537	KANK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024877.1	NM_181712	Silent	5	64	1	0	0.014758	1	0.0151179	5	64					T	62718880	G	T	62718880	5	4	120	1	0	0	0	0	0	0	1	0	7979	1101	38	5	458	5	KANK4	1	62718880	Splice_Site	SNP	G	TCGA-EJ-A65E-01A-11D-A29Q-08	60996878	62718880	186531741	2	6292											
ADORA3	140	broad.mit.edu	37	chr1	112042634	112042634	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gggatggcagaccacacaagCtttgaggatcaaaaggtagg	14	6	14	7	0	1	2	1	1	0	1	1	4	1	4	1	5	1	3	1	5	4	2			TCGA-EJ-A65E-01A-11D-A29Q-08	TCGA-EJ-A65E-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	914ddd96-a9b1-469b-8114-ed57c1184729	dcb67253-4e94-409e-a5cf-5a86196c1877	g.chr1:112042634C>A	ENST00000241356.4	-	2	1300	c.895G>T	c.(895-897)Gct>Tct	p.A299S	ADORA3_ENST00000369717.4_Intron|ADORA3_ENST00000486342.1_5'Flank|ADORA3_ENST00000369716.4_Intron	NM_000677.3	NP_000668.1	P33765	AA3R_HUMAN	adenosine A3 receptor	299					activation of adenylate cyclase activity (GO:0007190)|histamine secretion by mast cell (GO:0002553)|inflammatory response (GO:0006954)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of inflammatory response (GO:0050729)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of mast cell degranulation (GO:0043306)|positive regulation of mucus secretion (GO:0070257)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|regulation of heart contraction (GO:0008016)|response to wounding (GO:0009611)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|mast cell granule (GO:0042629)|plasma membrane (GO:0005886)	G-protein coupled adenosine receptor activity (GO:0001609)	p.A299T(1)		NS(1)|breast(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)|skin(1)	12		all_cancers(81;1.63e-06)|all_epithelial(167;5.01e-06)|all_lung(203;8.02e-05)|Lung NSC(277;0.000156)		all cancers(265;0.0185)|Colorectal(144;0.0186)|Lung(183;0.0238)|COAD - Colon adenocarcinoma(174;0.0644)|Epithelial(280;0.0872)|LUSC - Lung squamous cell carcinoma(189;0.134)	Adenosine(DB00640)|Aminophylline(DB01223)|Enprofylline(DB00824)	ACCACACAAGCTTTGAGGATC	0.438																																						ENST00000241356.4																			1	Substitution - Missense(1)	p.A299T(1)	NS(1)	NS(1)|breast(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)|skin(1)	12						c.(895-897)Gct>Tct		adenosine A3 receptor	Adenosine(DB00640)|Aminophylline(DB01223)						75	74	74					1																	112042634		2203	4300	6503	SO:0001583	missense	140				activation of adenylate cyclase activity|inflammatory response|regulation of heart contraction	integral to plasma membrane	adenosine receptor activity, G-protein coupled	g.chr1:112042634C>A	BC029831	CCDS838.1, CCDS839.1, CCDS41369.1	1p13.2	2014-09-17			ENSG00000121933	ENSG00000121933		"GPCR / Class A : Adenosine receptors", "Immunoglobulin superfamily / V-set domain containing"	268	protein-coding gene	gene with protein product		600445				7607699	Standard	NM_020683		Approved	AD026	uc001ebf.3	P33765	OTTHUMG00000011957	ENST00000241356.4:c.895G>T	1.37:g.112042634C>A	ENSP00000241356:p.Ala299Ser					ADORA3_ENST00000369716.4_Intron|ADORA3_ENST00000369717.4_Intron	p.A299S	NM_000677.3	NP_000668.1	P33765	AA3R_HUMAN		all cancers(265;0.0185)|Colorectal(144;0.0186)|Lung(183;0.0238)|COAD - Colon adenocarcinoma(174;0.0644)|Epithelial(280;0.0872)|LUSC - Lung squamous cell carcinoma(189;0.134)	2	1300	-		all_cancers(81;1.63e-06)|all_epithelial(167;5.01e-06)|all_lung(203;8.02e-05)|Lung NSC(277;0.000156)	299					A2A3P4|Q6UWU0|Q9BYZ1	Missense_Mutation	SNP	ENST00000241356.4	37	c.895G>T	CCDS839.1	.	.	.	.	.	.	.	.	.	.	C	0.015	-1.541930	0.00934	.	.	ENSG00000121933	ENST00000241356	T	0.36520	1.25	5.52	-9.61	0.00550	.	.	.	.	.	T	0.06325	0.0163	L	0.34521	1.04	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.26155	-1.0111	9	0.12430	T	0.62	.	8.5752	0.33595	0.2956:0.1112:0.0:0.5932	.	299	P33765	AA3R_HUMAN	S	299	ENSP00000241356:A299S	ENSP00000241356:A299S	A	-	1	0	ADORA3	111844157	0.000000	0.05858	0.001000	0.08648	0.049000	0.14656	-1.647000	0.01997	-1.499000	0.01821	-0.907000	0.02831	GCT		0.438	ADORA3-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033065.1	NM_000677, NM_020683		23	35	1	0	1.87028e-06	1	2.01415e-06	23	35					A	112042634	C	A	112042634	3	1	120	1	0	0	0	0	1	0	0	0	329	797	28	5	779	5	ADORA3	1	112042634	Missense_Mutation	SNP	C	TCGA-EJ-A65E-01A-11D-A29Q-08	49323754	112042634	137207987	3	6293											
TXNIP	10628	broad.mit.edu	37	chr1	145441198	145441198	+	Missense_Mutation	SNP	C	C	T																															tttaggtggatccctgcatcCtcaacaacaatgtgcagtga																										TCGA-EJ-A65E-01A-11D-A29Q-08	TCGA-EJ-A65E-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	914ddd96-a9b1-469b-8114-ed57c1184729	dcb67253-4e94-409e-a5cf-5a86196c1877	g.chr1:145441198C>T	ENST00000369317.4	+	8	1490	c.1156C>T	c.(1156-1158)Ctc>Ttc	p.L386F	TXNIP_ENST00000475171.1_3'UTR	NM_006472.3	NP_006463.3	Q9H3M7	TXNIP_HUMAN	thioredoxin interacting protein	386					cell cycle (GO:0007049)|cellular response to tumor cell (GO:0071228)|innate immune response (GO:0045087)|keratinocyte differentiation (GO:0030216)|negative regulation of cell division (GO:0051782)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|protein import into nucleus (GO:0006606)|regulation of cell proliferation (GO:0042127)|response to calcium ion (GO:0051592)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to glucose (GO:0009749)|response to hydrogen peroxide (GO:0042542)|response to mechanical stimulus (GO:0009612)|response to progesterone (GO:0032570)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrial intermembrane space (GO:0005758)|nucleus (GO:0005634)	enzyme inhibitor activity (GO:0004857)|ubiquitin protein ligase binding (GO:0031625)			breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(1)|lung(5)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	21	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					TCCCTGCATCCTCAACAACAA	0.393																																						ENST00000369317.4																			0				breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(1)|lung(5)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	21						c.(1156-1158)Ctc>Ttc		thioredoxin interacting protein							116	109	111					1																	145441198		2203	4300	6503	SO:0001583	missense	10628				cell cycle|keratinocyte differentiation|transcription, DNA-dependent		ubiquitin protein ligase binding	g.chr1:145441198C>T	S73591	CCDS72876.1	1q11	2008-07-18			ENSG00000117289	ENSG00000265972			16952	protein-coding gene	gene with protein product	"upregulated by 1,25-dihydroxyvitamin D-3", "thioredoxin binding protein 2"	606599				8086474	Standard	NM_006472		Approved	VDUP1, EST01027, HHCPA78, THIF	uc001enn.4	Q9H3M7	OTTHUMG00000013755	ENST00000369317.4:c.1156C>T	1.37:g.145441198C>T	ENSP00000358323:p.Leu386Phe					TXNIP_ENST00000475171.1_3'UTR	p.L386F	NM_006472.3	NP_006463.3	Q9H3M7	TXNIP_HUMAN			8	1490	+	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		386					B4E3D3|Q16226|Q6PML0|Q9BXG9	Missense_Mutation	SNP	ENST00000369317.4	37	c.1156C>T	CCDS913.1	.	.	.	.	.	.	.	.	.	.	C	11.54	1.670240	0.29693	.	.	ENSG00000117289	ENST00000369317	T	0.09630	2.96	5.03	1.6	0.23607	.	0.693290	0.13900	N	0.354953	T	0.01489	0.0048	N	0.08118	0	0.20926	N	0.999824	B;B	0.19445	0.036;0.004	B;B	0.20955	0.032;0.003	T	0.47911	-0.9080	10	0.30078	T	0.28	-23.1376	6.9926	0.24763	0.374:0.3333:0.2928:0.0	.	331;386	B4E3D3;Q9H3M7	.;TXNIP_HUMAN	F	386	ENSP00000358323:L386F	ENSP00000358323:L386F	L	+	1	0	TXNIP	144152555	0.000000	0.05858	0.894000	0.35097	0.940000	0.58332	0.291000	0.18994	0.530000	0.28619	0.655000	0.94253	CTC		0.393	TXNIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038547.1	NM_006472		15	24	0	0	0	1	0	15	24					T	145441198	C	T	145441198	3	4	120	1	0	0	0	0	1	0	0	0	16800	681	24	3	1186	3	TXNIP	1	145441198	Missense_Mutation	SNP	C	TCGA-EJ-A65E-01A-11D-A29Q-08	33398564	145441198	103809423	4	6294	36	2									
TXNIP	10628	broad.mit.edu	37	chr1	145441200	145441200	+	Silent	SNP	C	C	T																															taggtggatccctgcatcctCaacaacaatgtgcagtgagc																										TCGA-EJ-A65E-01A-11D-A29Q-08	TCGA-EJ-A65E-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	914ddd96-a9b1-469b-8114-ed57c1184729	dcb67253-4e94-409e-a5cf-5a86196c1877	g.chr1:145441200C>T	ENST00000369317.4	+	8	1492	c.1158C>T	c.(1156-1158)ctC>ctT	p.L386L	TXNIP_ENST00000475171.1_3'UTR	NM_006472.3	NP_006463.3	Q9H3M7	TXNIP_HUMAN	thioredoxin interacting protein	386					cell cycle (GO:0007049)|cellular response to tumor cell (GO:0071228)|innate immune response (GO:0045087)|keratinocyte differentiation (GO:0030216)|negative regulation of cell division (GO:0051782)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|protein import into nucleus (GO:0006606)|regulation of cell proliferation (GO:0042127)|response to calcium ion (GO:0051592)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to glucose (GO:0009749)|response to hydrogen peroxide (GO:0042542)|response to mechanical stimulus (GO:0009612)|response to progesterone (GO:0032570)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrial intermembrane space (GO:0005758)|nucleus (GO:0005634)	enzyme inhibitor activity (GO:0004857)|ubiquitin protein ligase binding (GO:0031625)	p.N389delN(1)		breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(1)|lung(5)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	21	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					CCTGCATCCTCAACAACAATG	0.393																																						ENST00000369317.4																			1	Deletion - In frame(1)	p.N389delN(1)	breast(1)	breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(1)|lung(5)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	21						c.(1156-1158)ctC>ctT		thioredoxin interacting protein							116	109	111					1																	145441200		2203	4300	6503	SO:0001819	synonymous_variant	10628				cell cycle|keratinocyte differentiation|transcription, DNA-dependent		ubiquitin protein ligase binding	g.chr1:145441200C>T	S73591	CCDS72876.1	1q11	2008-07-18			ENSG00000117289	ENSG00000265972			16952	protein-coding gene	gene with protein product	"upregulated by 1,25-dihydroxyvitamin D-3", "thioredoxin binding protein 2"	606599				8086474	Standard	NM_006472		Approved	VDUP1, EST01027, HHCPA78, THIF	uc001enn.4	Q9H3M7	OTTHUMG00000013755	ENST00000369317.4:c.1158C>T	1.37:g.145441200C>T						TXNIP_ENST00000475171.1_3'UTR	p.L386L	NM_006472.3	NP_006463.3	Q9H3M7	TXNIP_HUMAN			8	1492	+	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		386					B4E3D3|Q16226|Q6PML0|Q9BXG9	Silent	SNP	ENST00000369317.4	37	c.1158C>T	CCDS913.1																																																																																				0.393	TXNIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038547.1	NM_006472		14	24	0	0	0	1	0	14	24					T	145441200	C	T	145441200	2	4	120	1	0	0	0	0	0	0	0	1	16800	813	29	3		3	TXNIP	1	145441200	Silent	SNP	C	TCGA-EJ-A65E-01A-11D-A29Q-08	2	145441200	103809421	5	6295	36	2									
OR10J3	441911	broad.mit.edu	37	chr1	159283812	159283812	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cataggagataaagaccaggCccataggtagaacaaggaca	18	4	11	8	0	0	3	0	0	0	3	0	5	0	4	2	4	1	1	2	4	7	4			TCGA-EJ-A65E-01A-11D-A29Q-08	TCGA-EJ-A65E-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	914ddd96-a9b1-469b-8114-ed57c1184729	dcb67253-4e94-409e-a5cf-5a86196c1877	g.chr1:159283812C>G	ENST00000332217.5	-	1	637	c.638G>C	c.(637-639)gGc>gCc	p.G213A		NM_001004467.1	NP_001004467.1	Q5JRS4	O10J3_HUMAN	olfactory receptor, family 10, subfamily J, member 3	213						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(19)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	47	all_hematologic(112;0.0429)					AAAGACCAGGCCCATAGGTAG	0.502																																						ENST00000332217.5																			0				breast(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(19)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	47						c.(637-639)gGc>gCc		olfactory receptor, family 10, subfamily J, member 3							165	148	154					1																	159283812		2203	4300	6503	SO:0001583	missense	441911				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:159283812C>G		CCDS30909.1	1q23.2	2012-08-09		2004-03-10	ENSG00000196266	ENSG00000196266		"GPCR / Class A : Olfactory receptors"	14992	protein-coding gene	gene with protein product				OR10J3P			Standard	NM_001004467		Approved		uc010piu.2	Q5JRS4	OTTHUMG00000037233	ENST00000332217.5:c.638G>C	1.37:g.159283812C>G	ENSP00000331789:p.Gly213Ala						p.G213A	NM_001004467.1	NP_001004467.1	Q5JRS4	O10J3_HUMAN			1	637	-	all_hematologic(112;0.0429)		213						Missense_Mutation	SNP	ENST00000332217.5	37	c.638G>C	CCDS30909.1	.	.	.	.	.	.	.	.	.	.	C	0.007	-1.955806	0.00470	.	.	ENSG00000196266	ENST00000332217	T	0.35605	1.3	5.2	2.25	0.28309	GPCR, rhodopsin-like superfamily (1);	0.833010	0.09760	U	0.759438	T	0.07503	0.0189	N	0.12831	0.26	0.09310	N	1	B	0.16603	0.018	B	0.21360	0.034	T	0.41662	-0.9496	10	0.30854	T	0.27	.	8.2047	0.31446	0.2721:0.6486:0.0:0.0793	.	213	Q5JRS4	O10J3_HUMAN	A	213	ENSP00000331789:G213A	ENSP00000331789:G213A	G	-	2	0	OR10J3	157550436	0.000000	0.05858	0.010000	0.14722	0.012000	0.07955	-1.412000	0.02476	0.068000	0.16574	-1.134000	0.01955	GGC		0.502	OR10J3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090629.1			44	81	0	0	0	1	0	44	81					G	159283812	C	G	159283812	3	3	120	1	0	0	0	0	1	0	0	0	10911	739	26	5	353	5	OR10J3	1	159283812	Missense_Mutation	SNP	C	TCGA-EJ-A65E-01A-11D-A29Q-08	13842612	159283812	89966809	6	6296											
GPA33	10223	broad.mit.edu	37	chr1	167024285	167024285	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agcagtagatgatgatgccaAtgataatgagggctgcaacc	14	8	12	7	0	0	5	0	4	0	1	0	5	0	5	2	1	4	4	2	1	4	2			TCGA-EJ-A65E-01A-11D-A29Q-08	TCGA-EJ-A65E-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	914ddd96-a9b1-469b-8114-ed57c1184729	dcb67253-4e94-409e-a5cf-5a86196c1877	g.chr1:167024285A>G	ENST00000367868.3	-	6	1098	c.755T>C	c.(754-756)aTt>aCt	p.I252T	RP11-102C16.3_ENST00000417644.1_RNA|GPA33_ENST00000527955.1_5'UTR	NM_005814.1	NP_005805.1	Q99795	GPA33_HUMAN	glycoprotein A33 (transmembrane)	252						extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	receptor activity (GO:0004872)			endometrium(4)|large_intestine(1)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15						GATGATGCCAATGATAATGAG	0.582																																						ENST00000367868.3																			0				endometrium(4)|large_intestine(1)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15						c.(754-756)aTt>aCt		glycoprotein A33 (transmembrane)							145	111	122					1																	167024285		2203	4300	6503	SO:0001583	missense	10223					integral to plasma membrane	receptor activity	g.chr1:167024285A>G	U79725	CCDS1258.1	1q24.1	2013-01-29			ENSG00000143167	ENSG00000143167		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	4445	protein-coding gene	gene with protein product		602171				9012807, 9245713	Standard	NM_005814		Approved	A33	uc001gea.1	Q99795	OTTHUMG00000034435	ENST00000367868.3:c.755T>C	1.37:g.167024285A>G	ENSP00000356842:p.Ile252Thr					RP11-102C16.3_ENST00000417644.1_RNA|GPA33_ENST00000527955.1_5'UTR	p.I252T	NM_005814.1	NP_005805.1	Q99795	GPA33_HUMAN			6	1098	-			252					Q5VZP6	Missense_Mutation	SNP	ENST00000367868.3	37	c.755T>C	CCDS1258.1	.	.	.	.	.	.	.	.	.	.	A	13.14	2.148129	0.37923	.	.	ENSG00000143167	ENST00000367868	T	0.40756	1.02	4.67	2.37	0.29283	.	0.489229	0.21653	N	0.071156	T	0.18045	0.0433	M	0.61703	1.905	0.09310	N	0.99999	B	0.21905	0.062	B	0.17979	0.02	T	0.21314	-1.0249	10	0.59425	D	0.04	.	5.5305	0.16983	0.7778:0.0:0.2222:0.0	.	252	Q99795	GPA33_HUMAN	T	252	ENSP00000356842:I252T	ENSP00000356842:I252T	I	-	2	0	GPA33	165290909	0.009000	0.17119	0.004000	0.12327	0.676000	0.39594	1.994000	0.40757	0.650000	0.30769	0.397000	0.26171	ATT		0.582	GPA33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083245.1	NM_005814		34	74	0	0	0	1	0	34	74					G	167024285	A	G	167024285	3	3	120	1	0	0	0	0	1	0	0	0	6586	101	4	4	212	4	GPA33	1	167024285	Missense_Mutation	SNP	A	TCGA-EJ-A65E-01A-11D-A29Q-08	7740473	167024285	82226336	7	6297											
SLC26A9	115019	broad.mit.edu	37	chr1	205897957	205897957	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggccacctggactcacccGcgttggatttctcccacgat	6	10	10	15	3	2	0	1	0	1	0	3	3	2	2	4	3	0	1	4	3	0	2			TCGA-EJ-A65E-01A-11D-A29Q-08	TCGA-EJ-A65E-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	914ddd96-a9b1-469b-8114-ed57c1184729	dcb67253-4e94-409e-a5cf-5a86196c1877	g.chr1:205897957G>A	ENST00000367135.3	-	8	1064	c.951C>T	c.(949-951)cgC>cgT	p.R317R	SLC26A9_ENST00000367134.2_Silent_p.R317R|SLC26A9_ENST00000340781.4_Silent_p.R317R	NM_052934.3	NP_443166.1	Q7LBE3	S26A9_HUMAN	solute carrier family 26 (anion exchanger), member 9	317					anion transport (GO:0006820)|bicarbonate transport (GO:0015701)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|positive regulation of gene expression (GO:0010628)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	anion:anion antiporter activity (GO:0015301)|ATPase binding (GO:0051117)|bicarbonate transmembrane transporter activity (GO:0015106)|chloride channel activity (GO:0005254)|secondary active sulfate transmembrane transporter activity (GO:0008271)			NS(1)|breast(3)|endometrium(11)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|skin(7)|urinary_tract(5)	52	Breast(84;0.201)		BRCA - Breast invasive adenocarcinoma(75;0.0458)			GGACTCACCCGCGTTGGATTT	0.577																																						ENST00000367135.3																			0				NS(1)|breast(3)|endometrium(11)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|skin(7)|urinary_tract(5)	52						c.(949-951)cgC>cgT		solute carrier family 26 (anion exchanger), member 9							66	59	61					1																	205897957		2203	4300	6503	SO:0001819	synonymous_variant	115019					integral to membrane	chloride channel activity|secondary active sulfate transmembrane transporter activity	g.chr1:205897957G>A	AF331525	CCDS30989.1, CCDS30990.1	1q32.1	2013-07-18	2013-07-18		ENSG00000174502	ENSG00000174502		"Solute carriers"	14469	protein-coding gene	gene with protein product	"anion transporter/exchanger-9"	608481	"solute carrier family 26, member 9"			11834742	Standard	NM_134325		Approved		uc001hdp.3	Q7LBE3	OTTHUMG00000036001	ENST00000367135.3:c.951C>T	1.37:g.205897957G>A						SLC26A9_ENST00000340781.4_Silent_p.R317R|SLC26A9_ENST00000367134.2_Silent_p.R317R	p.R317R	NM_052934.3	NP_443166.1	Q7LBE3	S26A9_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.0458)		8	1064	-	Breast(84;0.201)		317					A7E2V6|B1AVM8|B1AVM9|B7ZKK2|Q96PK9|Q96RN0	Silent	SNP	ENST00000367135.3	37	c.951C>T	CCDS30990.1																																																																																				0.577	SLC26A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087742.1	NM_052934		15	39	0	0	0	1	0	15	39					A	205897957	G	A	205897957	2	1	120	1	0	0	0	0	0	0	0	1	14524	1074	38	1		1	SLC26A9	1	205897957	Silent	SNP	G	TCGA-EJ-A65E-01A-11D-A29Q-08	38873672	205897957	43352664	8	6298											
OTOF	9381	broad.mit.edu	37	chr2	26717923	26717923	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcccaccagctgccgggcctCgatcaccgtgatgctgacct	6	7	11	17	3	1	2	1	2	0	0	2	3	1	2	6	1	3	2	6	1	0	0			TCGA-EJ-A65E-01A-11D-A29Q-08	TCGA-EJ-A65E-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	914ddd96-a9b1-469b-8114-ed57c1184729	dcb67253-4e94-409e-a5cf-5a86196c1877	g.chr2:26717923C>T	ENST00000272371.2	-	9	910	c.784G>A	c.(784-786)Gag>Aag	p.E262K	OTOF_ENST00000403946.3_Missense_Mutation_p.E262K	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN	otoferlin	262	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.				membrane fusion (GO:0061025)|sensory perception of sound (GO:0007605)|synaptic vesicle exocytosis (GO:0016079)	cell junction (GO:0030054)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synaptic vesicle membrane (GO:0030672)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGCCGGGCCTCGATCACCGTG	0.632																																					GBM(102;732 1451 20652 24062 31372)	ENST00000272371.2																			0				NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106						c.(784-786)Gag>Aag		otoferlin							69	63	65					2																	26717923		2203	4300	6503	SO:0001583	missense	9381				cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis	basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane	calcium ion binding	g.chr2:26717923C>T	AF107403	CCDS1724.1, CCDS1725.1, CCDS1726.1, CCDS46241.1, CCDS74497.1	2p23.1	2014-06-27			ENSG00000115155	ENSG00000115155			8515	protein-coding gene	gene with protein product	"fer-1-like family member 2"	603681		DFNB9		10192385, 18381613	Standard	NM_194248		Approved	FER1L2, DFNB6	uc002rhk.3	Q9HC10	OTTHUMG00000096977	ENST00000272371.2:c.784G>A	2.37:g.26717923C>T	ENSP00000272371:p.Glu262Lys					OTOF_ENST00000403946.3_Missense_Mutation_p.E262K	p.E262K	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN			9	910	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		262			C2 1.		B4DJX0|B5MCC1|B9A0H6|Q53R90|Q9HC08|Q9HC09|Q9Y650	Missense_Mutation	SNP	ENST00000272371.2	37	c.784G>A	CCDS1725.1	.	.	.	.	.	.	.	.	.	.	C	33	5.237633	0.95240	.	.	ENSG00000115155	ENST00000272371;ENST00000403946	T;T	0.69685	-0.42;-0.42	5.83	5.83	0.93111	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	T	0.80319	0.4601	L	0.60067	1.865	0.58432	D	0.999997	D	0.89917	1.0	D	0.83275	0.996	T	0.79883	-0.1615	10	0.56958	D	0.05	-40.9032	18.679	0.91540	0.0:1.0:0.0:0.0	.	262	Q9HC10	OTOF_HUMAN	K	262	ENSP00000272371:E262K;ENSP00000385255:E262K	ENSP00000272371:E262K	E	-	1	0	OTOF	26571427	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.687000	0.84139	2.750000	0.94351	0.655000	0.94253	GAG		0.632	OTOF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214047.3			10	49	0	0	0	1	0	10	49					T	26717923	C	T	26717923	3	4	120	1	0	0	0	0	1	0	0	0	11303	893	31	2	5690	2	OTOF	2	26717923	Missense_Mutation	SNP	C	TCGA-EJ-A65E-01A-11D-A29Q-08		26717923	216481450	9	6299											
THADA	63892	broad.mit.edu	37	chr2	43625211	43625211	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtattaggaatgtgatctaTcataacaaatgggaccaagg	15	10	11	5	0	2	1	1	1	1	0	2	3	2	3	1	4	1	1	1	4	7	4			TCGA-EJ-A65E-01A-11D-A29Q-08	TCGA-EJ-A65E-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	914ddd96-a9b1-469b-8114-ed57c1184729	dcb67253-4e94-409e-a5cf-5a86196c1877	g.chr2:43625211T>C	ENST00000405006.4	-	29	4477	c.4126A>G	c.(4126-4128)Ata>Gta	p.I1376V	THADA_ENST00000485353.1_5'UTR|THADA_ENST00000415080.2_Missense_Mutation_p.I1057V|THADA_ENST00000330266.7_Intron|THADA_ENST00000405975.2_Missense_Mutation_p.I1376V	NM_001083953.1|NM_001271643.1	NP_001077422.1|NP_001258572.1	Q6YHU6	THADA_HUMAN	thyroid adenoma associated	1376										breast(1)|endometrium(9)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	66		Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837)				ATGTGATCTATCATAACAAAT	0.478																																						ENST00000405006.4																			0				breast(1)|endometrium(9)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	66						c.(4126-4128)Ata>Gta		thyroid adenoma associated							143	146	145					2																	43625211		2035	4204	6239	SO:0001583	missense	63892						binding	g.chr2:43625211T>C	AY149629	CCDS46268.1, CCDS62901.1, CCDS62902.1	2p21	2008-02-05			ENSG00000115970	ENSG00000115970			19217	protein-coding gene	gene with protein product		611800				12063398, 11214970	Standard	NM_022065		Approved	FLJ21877, KIAA1767, GITA	uc002rsx.4	Q6YHU6	OTTHUMG00000152398	ENST00000405006.4:c.4126A>G	2.37:g.43625211T>C	ENSP00000385995:p.Ile1376Val					THADA_ENST00000485353.1_5'UTR|THADA_ENST00000415080.2_Missense_Mutation_p.I1057V|THADA_ENST00000405975.2_Missense_Mutation_p.I1376V|THADA_ENST00000330266.7_Intron	p.I1376V	NM_001083953.1|NM_001271643.1	NP_001077422.1|NP_001258572.1	Q6YHU6	THADA_HUMAN			29	4477	-		Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837)	1376					A8K1V8|B7WNS6|Q3KR04|Q53RC6|Q53TB2|Q6YHU2|Q6ZU38|Q8IY32|Q8TAU8|Q96I88|Q9BZF7|Q9C096|Q9H6U0|Q9H6W7	Missense_Mutation	SNP	ENST00000405006.4	37	c.4126A>G	CCDS46268.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	8.674|8.674	0.903633|0.903633	0.17760|0.17760	.|.	.|.	ENSG00000115970|ENSG00000115970	ENST00000405975;ENST00000356975;ENST00000415080;ENST00000405006|ENST00000407351	T;T;T|.	0.67345|.	-0.26;-0.26;-0.26|.	5.17|5.17	-5.86|-5.86	0.02304|0.02304	Armadillo-type fold (1);|.	1.189900|.	0.06114|.	N|.	0.667682|.	T|.	0.30603|.	0.0770|.	L|L	0.38838|0.38838	1.175|1.175	0.18873|0.18873	N|N	0.999989|0.999989	B;B;B;B|.	0.06786|.	0.0;0.001;0.0;0.0|.	B;B;B;B|.	0.08055|.	0.002;0.003;0.001;0.001|.	T|.	0.34700|.	-0.9818|.	10|.	0.21540|.	T|.	0.41|.	.|.	8.1926|8.1926	0.31376|0.31376	0.0:0.4274:0.1152:0.4575|0.0:0.4274:0.1152:0.4575	.|.	1055;1303;1057;1376|.	Q6YHU6-2;B6ZDQ0;C9JJB1;Q6YHU6|.	.;.;.;THADA_HUMAN|.	V|W	1376;1303;1057;1376|615	ENSP00000386088:I1376V;ENSP00000416048:I1057V;ENSP00000385995:I1376V|.	ENSP00000349464:I1303V|.	I|X	-|-	1|3	0|0	THADA|THADA	43478715|43478715	0.046000|0.046000	0.20272|0.20272	0.004000|0.004000	0.12327|0.12327	0.881000|0.881000	0.50899|0.50899	-0.012000|-0.012000	0.12699|0.12699	-1.517000|-1.517000	0.01780|0.01780	-0.924000|-0.924000	0.02725|0.02725	ATA|TGA		0.478	THADA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326070.3	NM_022065		32	75	0	0	0	1	0	32	75					C	43625211	T	C	43625211	3	2	120	1	0	0	0	0	1	0	0	0	15837	1435	50	4	1775	4	THADA	2	43625211	Missense_Mutation	SNP	T	TCGA-EJ-A65E-01A-11D-A29Q-08	16907288	43625211	199574162	10	6300											
SLC4A10	57282	broad.mit.edu	37	chr2	162804174	162804174	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tggtctgtgatcctgttcttTtccacagttactctgtcagc	5	17	8	11	0	4	1	1	1	3	0	6	1	6	1	2	1	2	2	2	1	1	4			TCGA-EJ-A65E-01A-11D-A29Q-08	TCGA-EJ-A65E-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	914ddd96-a9b1-469b-8114-ed57c1184729	dcb67253-4e94-409e-a5cf-5a86196c1877	g.chr2:162804174T>C	ENST00000446997.1	+	17	2295	c.2202T>C	c.(2200-2202)ttT>ttC	p.F734F	SLC4A10_ENST00000415876.2_Silent_p.F704F|SLC4A10_ENST00000375514.5_Silent_p.F715F|SLC4A10_ENST00000421911.1_Silent_p.F734F|SLC4A10_ENST00000272716.5_Silent_p.F704F	NM_001178015.1	NP_001171486.1	Q6U841	S4A10_HUMAN	solute carrier family 4, sodium bicarbonate transporter, member 10	734					bicarbonate transport (GO:0015701)|chloride transport (GO:0006821)|ion transport (GO:0006811)|regulation of pH (GO:0006885)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|symporter activity (GO:0015293)			endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(35)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60					Sodium bicarbonate(DB01390)	TCCTGTTCTTTTCCACAGTTA	0.413																																						ENST00000375514.5																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(35)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						c.(2143-2145)ttT>ttC		solute carrier family 4, sodium bicarbonate transporter, member 10							204	198	200					2																	162804174		1948	4131	6079	SO:0001819	synonymous_variant	57282				bicarbonate transport|chloride transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity|symporter activity	g.chr2:162804174T>C		CCDS46438.1, CCDS54411.1, CCDS54412.1	2q24.2	2013-05-22	2008-09-15		ENSG00000144290	ENSG00000144290		"Solute carriers"	13811	protein-coding gene	gene with protein product		605556	"solute carrier family 4, sodium bicarbonate transporter-like, member 10"			10964153, 18319254	Standard	NM_022058		Approved	NBCn2, NCBE	uc002ubx.4	Q6U841	OTTHUMG00000153938	ENST00000446997.1:c.2202T>C	2.37:g.162804174T>C						SLC4A10_ENST00000272716.5_Silent_p.F704F|SLC4A10_ENST00000446997.1_Silent_p.F734F|SLC4A10_ENST00000421911.1_Silent_p.F734F|SLC4A10_ENST00000415876.2_Silent_p.F704F	p.F715F	NM_001178016.1	NP_001171487.1	Q6U841	S4A10_HUMAN			17	2432	+			734					B7Z1R0|B7Z2J0|B7ZLC5|B9EG69|F8W675|Q4ZFX6|Q8TCP2|Q9HCQ6	Silent	SNP	ENST00000446997.1	37	c.2145T>C	CCDS54411.1																																																																																				0.413	SLC4A10-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333090.1	NM_022058		31	88	0	0	0	1	0	31	88					C	162804174	T	C	162804174	2	2	120	1	0	0	0	0	0	0	0	1	14651	1838	64	4		4	SLC4A10	2	162804174	Silent	SNP	T	TCGA-EJ-A65E-01A-11D-A29Q-08	119178963	162804174	80395199	11	6301											
TMEM45A	55076	broad.mit.edu	37	chr3	100287665	100287665	+	Splice_Site	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gctttttgttctaaattacaGattggatttgtcctgtatcc	8	19	7	7	0	1	1	0	0	1	1	3	2	3	2	2	1	1	3	2	1	4	8			TCGA-EJ-A65E-01A-11D-A29Q-08	TCGA-EJ-A65E-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	914ddd96-a9b1-469b-8114-ed57c1184729	dcb67253-4e94-409e-a5cf-5a86196c1877	g.chr3:100287665G>C	ENST00000323523.4	+	5	901		c.e5-1		TMEM45A_ENST00000403410.1_Splice_Site	NM_018004.1	NP_060474.1	Q9NWC5	TM45A_HUMAN	transmembrane protein 45A							integral component of membrane (GO:0016021)				breast(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(2)	11						CTAAATTACAGATTGGATTTG	0.348																																						ENST00000403410.1																			0				breast(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(2)	11						c.e7-1		transmembrane protein 45A							137	134	135					3																	100287665		2203	4300	6503	SO:0001630	splice_region_variant	55076					integral to membrane		g.chr3:100287665G>C	AK000996	CCDS2937.1	3q12.2	2005-02-04			ENSG00000181458	ENSG00000181458			25480	protein-coding gene	gene with protein product						12477932	Standard	XM_005247568		Approved	FLJ10134, DERP7	uc003dtz.1	Q9NWC5	OTTHUMG00000150327	ENST00000323523.4:c.589-1G>C	3.37:g.100287665G>C						TMEM45A_ENST00000323523.4_Splice_Site				Q9NWC5	TM45A_HUMAN			7	1256	+								Q53YW5	Splice_Site	SNP	ENST00000323523.4	37		CCDS2937.1	.	.	.	.	.	.	.	.	.	.	G	13.82	2.351310	0.41700	.	.	ENSG00000181458	ENST00000323523;ENST00000403410	.	.	.	5.81	5.81	0.92471	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.8449	0.92202	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	TMEM45A	101770355	1.000000	0.71417	0.982000	0.44146	0.547000	0.35210	6.914000	0.75764	2.751000	0.94390	0.555000	0.69702	.		0.348	TMEM45A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317571.1	NM_018004	Intron	13	47	0	0	0	1	0	13	47					C	100287665	G	C	100287665	5	2	120	1	0	0	0	0	0	0	1	0	16166	956	33	5	602	5	TMEM45A	3	100287665	Splice_Site	SNP	G	TCGA-EJ-A65E-01A-11D-A29Q-08		100287665	97734765	12	6302											
DIRC2	84925	broad.mit.edu	37	chr3	122552285	122552285	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatcggagaagcgtttgtagAttattaaggtaaatatactg	14	14	10	3	2	0	2	0	0	0	2	1	3	0	2	0	2	2	3	0	2	9	8			TCGA-EJ-A65E-01A-11D-A29Q-08	TCGA-EJ-A65E-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	914ddd96-a9b1-469b-8114-ed57c1184729	dcb67253-4e94-409e-a5cf-5a86196c1877	g.chr3:122552285A>C	ENST00000261038.5	+	4	1223	c.825A>C	c.(823-825)agA>agC	p.R275S		NM_032839.2	NP_116228.1	Q96SL1	DIRC2_HUMAN	disrupted in renal carcinoma 2	275					transport (GO:0006810)	integral component of membrane (GO:0016021)|lysosome (GO:0005764)				endometrium(2)|large_intestine(1)|lung(14)|prostate(1)	18				GBM - Glioblastoma multiforme(114;0.0614)		GCGTTTGTAGATTATTAAGGT	0.398																																						ENST00000261038.5																			0				endometrium(2)|large_intestine(1)|lung(14)|prostate(1)	18						c.(823-825)agA>agC		disrupted in renal carcinoma 2							77	81	79					3																	122552285		2203	4300	6503	SO:0001583	missense	84925				transport	integral to membrane		g.chr3:122552285A>C	AK027690	CCDS3018.1	3q21.1	2013-05-22			ENSG00000138463	ENSG00000138463		"Solute carriers"	16628	protein-coding gene	gene with protein product	"renal cell carcinoma 4", "disrupted in renal cancer protein 2"	602773				11912179	Standard	NM_032839		Approved	FLJ14784, RCC4	uc003efw.4	Q96SL1	OTTHUMG00000159553	ENST00000261038.5:c.825A>C	3.37:g.122552285A>C	ENSP00000261038:p.Arg275Ser						p.R275S	NM_032839.2	NP_116228.1	Q96SL1	DIRC2_HUMAN		GBM - Glioblastoma multiforme(114;0.0614)	4	1223	+			275					A8K561|Q8NBX9	Missense_Mutation	SNP	ENST00000261038.5	37	c.825A>C	CCDS3018.1	.	.	.	.	.	.	.	.	.	.	A	14.04	2.416352	0.42918	.	.	ENSG00000138463	ENST00000261038	T	0.58652	0.32	5.16	0.137	0.14787	Major facilitator superfamily domain, general substrate transporter (1);	0.042989	0.85682	D	0.000000	T	0.42517	0.1206	L	0.39633	1.23	0.51233	D	0.999911	B	0.13145	0.007	B	0.15484	0.013	T	0.16453	-1.0402	10	0.26408	T	0.33	.	9.4929	0.38971	0.6697:0.0:0.3303:0.0	.	275	Q96SL1	DIRC2_HUMAN	S	275	ENSP00000261038:R275S	ENSP00000261038:R275S	R	+	3	2	DIRC2	124034975	0.999000	0.42202	0.999000	0.59377	0.954000	0.61252	0.626000	0.24492	0.112000	0.17975	0.529000	0.55759	AGA		0.398	DIRC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356180.2	NM_032839		30	55	0	0	0	1	0	30	55					C	122552285	A	C	122552285	3	2	120	1	0	0	0	0	1	0	0	0	4534	330	12	5	839	5	DIRC2	3	122552285	Missense_Mutation	SNP	A	TCGA-EJ-A65E-01A-11D-A29Q-08	22264620	122552285	75470145	13	6303											
SLC22A7	10864	broad.mit.edu	37	chr6	43267187	43267187	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgtccactttcttcttcgcCggtgtgctggtgggggctgt	1	14	15	11	3	2	0	0	0	2	0	4	0	3	0	2	4	1	2	2	4	0	3			TCGA-EJ-A65E-01A-11D-A29Q-08	TCGA-EJ-A65E-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	914ddd96-a9b1-469b-8114-ed57c1184729	dcb67253-4e94-409e-a5cf-5a86196c1877	g.chr6:43267187C>T	ENST00000372585.5	+	3	554	c.459C>T	c.(457-459)gcC>gcT	p.A153A	SLC22A7_ENST00000487175.1_3'UTR|SLC22A7_ENST00000372574.3_Silent_p.A151A|SLC22A7_ENST00000372589.3_Silent_p.A151A	NM_153320.2	NP_696961.2	Q9Y694	S22A7_HUMAN	solute carrier family 22 (organic anion transporter), member 7	153					organic anion transport (GO:0015711)|response to stilbenoid (GO:0035634)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	sodium-independent organic anion transmembrane transporter activity (GO:0015347)			NS(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(1)|skin(3)	26			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00998)|OV - Ovarian serous cystadenocarcinoma(102;0.0305)		Acetylsalicylic acid(DB00945)|Allopurinol(DB00437)|Aminohippurate(DB00345)|Bumetanide(DB00887)|Cefalotin(DB00456)|Cefamandole(DB01326)|Cefoperazone(DB01329)|Cefotaxime(DB00493)|Cimetidine(DB00501)|Clarithromycin(DB01211)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Docetaxel(DB01248)|Enalapril(DB00584)|Erythromycin(DB00199)|Fluorouracil(DB00544)|Ganciclovir(DB01004)|Glyburide(DB01016)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Methotrexate(DB00563)|Minocycline(DB01017)|Oxtriphylline(DB01303)|Oxytetracycline(DB00595)|Pravastatin(DB00175)|Probenecid(DB01032)|Rifampicin(DB01045)|Salicylic acid(DB00936)|Testosterone(DB00624)|Tetracycline(DB00759)|Theophylline(DB00277)|Valproic Acid(DB00313)|Zalcitabine(DB00943)|Zidovudine(DB00495)	TCTTCTTCGCCGGTGTGCTGG	0.562																																						ENST00000372585.5																			0				NS(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(1)|skin(3)	26						c.(457-459)gcC>gcT		solute carrier family 22 (organic anion transporter), member 7							117	113	114					6																	43267187		2203	4300	6503	SO:0001819	synonymous_variant	10864					basolateral plasma membrane|integral to plasma membrane|membrane fraction	anion:anion antiporter activity|sodium-independent organic anion transmembrane transporter activity	g.chr6:43267187C>T	AF097518	CCDS4892.1, CCDS4893.2	6p21.1	2013-05-22			ENSG00000137204	ENSG00000137204		"Solute carriers"	10971	protein-coding gene	gene with protein product		604995				9650585, 10773670	Standard	XM_006714970		Approved	NLT, OAT2	uc003out.3	Q9Y694	OTTHUMG00000014726	ENST00000372585.5:c.459C>T	6.37:g.43267187C>T						SLC22A7_ENST00000487175.1_3'UTR|SLC22A7_ENST00000372589.3_Silent_p.A151A|SLC22A7_ENST00000372574.3_Silent_p.A151A	p.A153A	NM_153320.2	NP_696961.2	Q9Y694	S22A7_HUMAN	Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00998)|OV - Ovarian serous cystadenocarcinoma(102;0.0305)		3	554	+			153					B2CZX6|Q5T046|Q5T048|Q5T050|Q9H2W5	Silent	SNP	ENST00000372585.5	37	c.459C>T	CCDS4893.2																																																																																				0.562	SLC22A7-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000040588.1			28	61	0	0	0	1	0	28	61					T	43267187	C	T	43267187	2	4	120	1	0	0	0	0	0	0	0	1	14459	639	23	2		2	SLC22A7	6	43267187	Silent	SNP	C	TCGA-EJ-A65E-01A-11D-A29Q-08		43267187	127847880	14	6304											
SYNE1	23345	broad.mit.edu	37	chr6	152647580	152647580	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	aggctgtggagctcctccagGttactatggaactgatcctc	8	11	11	11	0	0	1	0	1	0	0	4	3	3	3	3	4	3	3	3	4	3	2			TCGA-EJ-A65E-01A-11D-A29Q-08	TCGA-EJ-A65E-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	914ddd96-a9b1-469b-8114-ed57c1184729	dcb67253-4e94-409e-a5cf-5a86196c1877	g.chr6:152647580G>A	ENST00000367255.5	-	79	15745	c.15144C>T	c.(15142-15144)aaC>aaT	p.N5048N	SYNE1_ENST00000448038.1_Silent_p.N4977N|SYNE1_ENST00000423061.1_Silent_p.N4977N|SYNE1_ENST00000265368.4_Silent_p.N5048N|SYNE1_ENST00000341594.5_Silent_p.N4795N	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	5048					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		GCTCCTCCAGGTTACTATGGA	0.512										HNSCC(10;0.0054)																												ENST00000367255.5																			0				NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524						c.(15142-15144)aaC>aaT		spectrin repeat containing, nuclear envelope 1							96	100	99					6																	152647580		2203	4300	6503	SO:0001819	synonymous_variant	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152647580G>A	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"myocyte nuclear envelope protein 1", "nuclear envelope spectrin repeat-1"	608441	"chromosome 6 open reading frame 98"	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.15144C>T	6.37:g.152647580G>A		HNSCC(10;0.0054)				SYNE1_ENST00000341594.5_Silent_p.N4795N|SYNE1_ENST00000265368.4_Silent_p.N5048N|SYNE1_ENST00000423061.1_Silent_p.N4977N|SYNE1_ENST00000448038.1_Silent_p.N4977N	p.N5048N	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	79	15745	-		Ovarian(120;0.0955)	5048					E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Silent	SNP	ENST00000367255.5	37	c.15144C>T	CCDS5236.2																																																																																				0.512	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		19	42	0	0	0	1	0	19	42					A	152647580	G	A	152647580	2	1	120	1	0	0	0	0	0	0	0	1	15442	1252	44	3		3	SYNE1	6	152647580	Silent	SNP	G	TCGA-EJ-A65E-01A-11D-A29Q-08	109380393	152647580	18467487	15	6305											
SYNJ2	8871	broad.mit.edu	37	chr6	158510938	158510938	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caaaaccaccaatgcccaggAggcagaagcagcaatccggt	15	3	10	13	1	0	1	0	0	0	1	1	2	1	2	4	3	4	3	4	3	5	0			TCGA-EJ-A65E-01A-11D-A29Q-08	TCGA-EJ-A65E-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	914ddd96-a9b1-469b-8114-ed57c1184729	dcb67253-4e94-409e-a5cf-5a86196c1877	g.chr6:158510938A>T	ENST00000355585.4	+	25	3599	c.3524A>T	c.(3523-3525)gAg>gTg	p.E1175V	SYNJ2_ENST00000367121.3_Missense_Mutation_p.E1175V|SYNJ2_ENST00000367112.1_Missense_Mutation_p.E260V|SYNJ2_ENST00000367122.2_Missense_Mutation_p.E1130V	NM_001178088.1|NM_003898.3	NP_001171559.1|NP_003889.1	O15056	SYNJ2_HUMAN	synaptojanin 2	1175					phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|membrane (GO:0016020)	nucleotide binding (GO:0000166)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)|RNA binding (GO:0003723)			biliary_tract(1)|endometrium(9)|kidney(3)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05)		AATGCCCAGGAGGCAGAAGCA	0.493																																						ENST00000355585.4																			0				biliary_tract(1)|endometrium(9)|kidney(3)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						c.(3523-3525)gAg>gTg		synaptojanin 2							69	63	65					6																	158510938		2203	4300	6503	SO:0001583	missense	8871						nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding	g.chr6:158510938A>T	AB002346	CCDS5254.1	6q25.3	2008-05-15			ENSG00000078269	ENSG00000078269			11504	protein-coding gene	gene with protein product		609410					Standard	NM_003898		Approved	INPP5H	uc003qqx.2	O15056	OTTHUMG00000015904	ENST00000355585.4:c.3524A>T	6.37:g.158510938A>T	ENSP00000347792:p.Glu1175Val					SYNJ2_ENST00000367112.1_Missense_Mutation_p.E260V|SYNJ2_ENST00000367122.2_Missense_Mutation_p.E1130V|SYNJ2_ENST00000367121.3_Missense_Mutation_p.E1175V	p.E1175V	NM_001178088.1|NM_003898.3	NP_001171559.1|NP_003889.1	O15056	SYNJ2_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05)	25	3599	+			1175					Q5TA13|Q5TA16|Q5TA19|Q86XK0|Q8IZA8|Q9H226	Missense_Mutation	SNP	ENST00000355585.4	37	c.3524A>T	CCDS5254.1	.	.	.	.	.	.	.	.	.	.	A	20.3	3.958612	0.74016	.	.	ENSG00000078269	ENST00000367122;ENST00000367121;ENST00000355585;ENST00000367112	D;D;D;T	0.94417	-3.3;-3.42;-3.21;0.69	5.38	5.38	0.77491	.	0.000000	0.64402	D	0.000014	D	0.94305	0.8170	L	0.36672	1.1	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.998;0.998	D	0.94720	0.7900	10	0.49607	T	0.09	.	15.4145	0.74956	1.0:0.0:0.0:0.0	.	570;1175;1175	B4DLC4;O15056;O15056-3	.;SYNJ2_HUMAN;.	V	1130;1175;1175;260	ENSP00000356089:E1130V;ENSP00000356088:E1175V;ENSP00000347792:E1175V;ENSP00000356079:E260V	ENSP00000347792:E1175V	E	+	2	0	SYNJ2	158430926	1.000000	0.71417	1.000000	0.80357	0.770000	0.43624	6.012000	0.70767	1.275000	0.44379	0.555000	0.69702	GAG		0.493	SYNJ2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042858.2			3	15	0	0	0	1	0	3	15					T	158510938	A	T	158510938	3	4	120	1	0	0	0	0	1	0	0	0	15450	304	11	5	3622	5	SYNJ2	6	158510938	Missense_Mutation	SNP	A	TCGA-EJ-A65E-01A-11D-A29Q-08	5863358	158510938	12604129	16	6306											
RELN	5649	broad.mit.edu	37	chr7	103341383	103341383	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctctagctgaatccagtcCgcagagttattcttggcata	9	14	8	10	1	2	2	0	1	2	1	5	2	4	2	2	1	1	4	2	1	4	6			TCGA-EJ-A65E-01A-11D-A29Q-08	TCGA-EJ-A65E-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	914ddd96-a9b1-469b-8114-ed57c1184729	dcb67253-4e94-409e-a5cf-5a86196c1877	g.chr7:103341383C>T	ENST00000428762.1	-	9	1035	c.876G>A	c.(874-876)gcG>gcA	p.A292A	RELN_ENST00000343529.5_Silent_p.A292A|RELN_ENST00000424685.2_Silent_p.A292A	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	292					associative learning (GO:0008306)|axon guidance (GO:0007411)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|central nervous system development (GO:0007417)|cerebral cortex tangential migration (GO:0021800)|dendrite development (GO:0016358)|glial cell differentiation (GO:0010001)|hippocampus development (GO:0021766)|lateral motor column neuron migration (GO:0097477)|layer formation in cerebral cortex (GO:0021819)|long-term memory (GO:0007616)|N-methyl-D-aspartate receptor clustering (GO:0097114)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of lateral motor column neuron migration (GO:1902078)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of TOR signaling (GO:0032008)|postsynaptic density protein 95 clustering (GO:0097119)|receptor localization to synapse (GO:0097120)|reelin-mediated signaling pathway (GO:0038026)|regulation of behavior (GO:0050795)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of synaptic transmission (GO:0050804)|response to pain (GO:0048265)|spinal cord patterning (GO:0021511)|ventral spinal cord development (GO:0021517)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	lipoprotein particle receptor binding (GO:0070325)|metal ion binding (GO:0046872)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|serine-type peptidase activity (GO:0008236)|very-low-density lipoprotein particle receptor binding (GO:0070326)			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		GAATCCAGTCCGCAGAGTTAT	0.358																																					NSCLC(146;835 1944 15585 22231 52158)	ENST00000428762.1																			0				NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227						c.(874-876)gcG>gcA		reelin							113	114	114					7																	103341383		2203	4300	6503	SO:0001819	synonymous_variant	5649				axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity	g.chr7:103341383C>T		CCDS34722.1, CCDS47680.1	7q22	2008-07-18			ENSG00000189056	ENSG00000189056			9957	protein-coding gene	gene with protein product		600514				9049633	Standard	NM_005045		Approved	RL, PRO1598	uc010liz.3	P78509	OTTHUMG00000157247	ENST00000428762.1:c.876G>A	7.37:g.103341383C>T						RELN_ENST00000343529.5_Silent_p.A292A|RELN_ENST00000424685.2_Silent_p.A292A	p.A292A	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN		COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)	9	1035	-			292					A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Silent	SNP	ENST00000428762.1	37	c.876G>A	CCDS47680.1																																																																																				0.358	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348148.1	NM_005045		12	58	0	0	0	1	0	12	58					T	103341383	C	T	103341383	2	4	120	1	0	0	0	0	0	0	0	1	13220	639	23	2		2	RELN	7	103341383	Silent	SNP	C	TCGA-EJ-A65E-01A-11D-A29Q-08		103341383	55797280	17	6307											
BRAF	673	broad.mit.edu	37	chr7	140481402	140481402	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	actttcccttgtagactgttCcaaatgatccagatccaatt	11	14	5	11	0	0	3	0	1	0	2	4	3	4	3	4	0	0	2	4	0	3	5	rs121913358|rs397516890|rs121913355		TCGA-EJ-A65E-01A-11D-A29Q-08	TCGA-EJ-A65E-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	914ddd96-a9b1-469b-8114-ed57c1184729	dcb67253-4e94-409e-a5cf-5a86196c1877	g.chr7:140481402C>G	ENST00000288602.6	-	11	1466	c.1406G>C	c.(1405-1407)gGa>gCa	p.G469A		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	469	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		G -> A (in NHL; also in a lung adenocarcinoma sample; somatic mutation; elevated kinase activity; efficiently induces cell transformation). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:14612909, ECO:0000269|PubMed:17344846}.|G -> E (in CFC1 and colon cancer). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:16439621, ECO:0000269|PubMed:16474404, ECO:0000269|PubMed:18042262, ECO:0000269|PubMed:19206169}.|G -> R (in NHL). {ECO:0000269|PubMed:14612909}.|G -> V (in a colorectal adenocarcinoma sample; somatic mutation). {ECO:0000269|PubMed:17344846}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.G469A(19)|p.G469V(13)|p.G469S(5)|p.G469E(5)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	GTAGACTGTTCCAAATGATCC	0.373	G469A(NCIH1395_LUNG)|G469A(NCIH1755_LUNG)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	ENST00000288602.6	G469A(NCIH1395_LUNG)|G469A(NCIH1755_LUNG)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	42	Substitution - Missense(42)	p.G469A(19)|p.G469V(13)|p.G469S(5)|p.G469E(5)	lung(13)|large_intestine(9)|haematopoietic_and_lymphoid_tissue(6)|skin(6)|biliary_tract(2)|NS(2)|upper_aerodigestive_tract(1)|cervix(1)|small_intestine(1)|oesophagus(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	GRCh37	CM060876	BRAF	M	rs121913355	c.(1405-1407)gGa>gCa		v-raf murine sarcoma viral oncogene homolog B	Sorafenib(DB00398)						174	149	158					7																	140481402		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140481402C>G	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1406G>C	7.37:g.140481402C>G	ENSP00000288602:p.Gly469Ala						p.G469A	NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN			11	1466	-	Melanoma(164;0.00956)		469		G -> A (in NHL; also in a lung adenocarcinoma sample; somatic mutation; elevated kinase activity; efficiently induces cell transformation).|G -> E (in CFC syndrome and colon cancer).|G -> R (in NHL).|G -> V (in a colorectal adenocarcinoma sample; somatic mutation).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1406G>C	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	31|31	5.088365|5.088365	0.94100|0.94100	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000496384|ENST00000288602	.|D	.|0.89415	.|-2.51	5.62|5.62	5.62|5.62	0.85841|0.85841	.|Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.92008|0.92008	0.7468|0.7468	L|L	0.54323|0.54323	1.7|1.7	0.80722|0.80722	D|D	1|1	.|D	.|0.59357	.|0.985	.|P	.|0.58210	.|0.835	D|D	0.92595|0.92595	0.6086|0.6086	5|10	.|0.87932	.|D	.|0	.|.	17.8428|17.8428	0.88720|0.88720	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|469	.|P15056	.|BRAF_HUMAN	Q|A	77|469	.|ENSP00000288602:G469A	.|ENSP00000288602:G469A	E|G	-|-	1|2	0|0	BRAF|BRAF	140127871|140127871	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	7.818000|7.818000	0.86416|0.86416	2.637000|2.637000	0.89404|0.89404	0.585000|0.585000	0.79938|0.79938	GAA|GGA		0.373	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		23	84	0	0	0	1	0	23	84					G	140481402	C	G	140481402	3	3	120	1	0	0	0	0	1	0	0	0	1496	855	30	5	926	5	BRAF	7	140481402	Missense_Mutation	SNP	C	TCGA-EJ-A65E-01A-11D-A29Q-08	37140019	140481402	18657261	18	6308											
PTPRN2	5799	broad.mit.edu	37	chr7	158380277	158380277	+	Frame_Shift_Del	DEL	G	G	-																															ccccgggagctgccggccgcGggggacggacgaaggggcgg																								rs370283162	byFrequency	TCGA-EJ-A65E-01A-11D-A29Q-08	TCGA-EJ-A65E-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	914ddd96-a9b1-469b-8114-ed57c1184729	dcb67253-4e94-409e-a5cf-5a86196c1877	g.chr7:158380277delG	ENST00000389418.4	-	1	94	c.85delC	c.(85-87)cgcfs	p.R29fs	PTPRN2_ENST00000389416.4_Frame_Shift_Del_p.R29fs|PTPRN2_ENST00000389413.3_Frame_Shift_Del_p.R29fs|PTPRN2_ENST00000409483.1_Frame_Shift_Del_p.R29fs	NM_002847.3	NP_002838.2	Q92932	PTPR2_HUMAN	protein tyrosine phosphatase, receptor type, N polypeptide 2	29					negative regulation of GTPase activity (GO:0034260)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	endoplasmic reticulum lumen (GO:0005788)|integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)|secretory granule (GO:0030141)|terminal bouton (GO:0043195)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	86	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)		TGCCGGCCGCGGGGGACGGAC	0.761																																						ENST00000389413.3																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	86						c.(85-87)gcfs		protein tyrosine phosphatase, receptor type, N polypeptide 2							2	2	2					7																	158380277		926	2199	3125	SO:0001589	frameshift_variant	5799					integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr7:158380277delG	AB002385	CCDS5947.1, CCDS5948.1, CCDS5949.1	7q36	2011-06-09			ENSG00000155093	ENSG00000155093		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"	9677	protein-coding gene	gene with protein product	"IAR PTPRP"	601698				8954911, 9220540	Standard	NM_130842		Approved	KIAA0387, phogrin, ICAAR, IA-2beta	uc003wno.3	Q92932	OTTHUMG00000152646	ENST00000389418.4:c.85delC	7.37:g.158380277delG	ENSP00000374069:p.Arg29fs					PTPRN2_ENST00000389416.4_Frame_Shift_Del_p.R29fs|PTPRN2_ENST00000389418.4_Frame_Shift_Del_p.R29fs|PTPRN2_ENST00000409483.1_Frame_Shift_Del_p.R29fs	p.R29fs	NM_130843.2	NP_570858.2	Q92932	PTPR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)	1	188	-	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	29					E9PC57|Q8N4I5|Q92662|Q9Y4F8|Q9Y4I6	Frame_Shift_Del	DEL	ENST00000389418.4	37	c.85delC	CCDS5947.1																																																																																				0.761	PTPRN2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000353214.1			2	4						2	4	---	---	---	---	-	158380277	G	-	158380277	7	5	120	1	0	1	0	1	0	0	0	0	12808	1116	39	0	3054	0	PTPRN2	7	158380277	Frame_Shift_Del	DEL	G	TCGA-EJ-A65E-01A-11D-A29Q-08	17898875	158380277	758386	19	6309											
LRRC67	286187	broad.mit.edu	37	chr8	67900709	67900709	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	caggatttccatttagatcaAttttccacagcttcatcaac	12	14	4	11	0	3	1	3	0	0	1	5	2	5	2	2	1	2	1	2	1	3	6			TCGA-EJ-A65E-01A-11D-A29Q-08	TCGA-EJ-A65E-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	914ddd96-a9b1-469b-8114-ed57c1184729	dcb67253-4e94-409e-a5cf-5a86196c1877	g.chr8:67900709A>G	ENST00000324682.5	-	6	740	c.596T>C	c.(595-597)aTt>aCt	p.I199T	PPP1R42_ENST00000522909.1_Missense_Mutation_p.I199T	NM_001013626.2	NP_001013648.1	Q7Z4L9	PPR42_HUMAN	protein phosphatase 1, regulatory subunit 42	199					regulation of phosphatase activity (GO:0010921)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|manchette (GO:0002177)|microtubule cytoskeleton (GO:0015630)|microtubule organizing center (GO:0005815)	actin binding (GO:0003779)|dynein binding (GO:0045502)|tubulin binding (GO:0015631)										ATTTAGATCAATTTTCCACAG	0.308																																						ENST00000522909.1																			0											c.(595-597)aTt>aCt		protein phosphatase 1, regulatory subunit 42							65	61	62					8																	67900709		2202	4298	6500	SO:0001583	missense	286187							g.chr8:67900709A>G	BC055413	CCDS34902.1	8q13.1-q13.2	2012-04-17	2011-10-11	2011-10-11	ENSG00000178125	ENSG00000178125		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	33732	protein-coding gene	gene with protein product	"testis leucine-rich repeat"		"leucine rich repeat containing 67"	LRRC67			Standard	NM_001013626		Approved	dtr, TLLR	uc003xxc.3	Q7Z4L9	OTTHUMG00000164745	ENST00000324682.5:c.596T>C	8.37:g.67900709A>G	ENSP00000315035:p.Ile199Thr					PPP1R42_ENST00000324682.5_Missense_Mutation_p.I199T	p.I199T			Q7Z4L9	LRC67_HUMAN			6	780	-			199						Missense_Mutation	SNP	ENST00000324682.5	37	c.596T>C	CCDS34902.1	.	.	.	.	.	.	.	.	.	.	A	16.13	3.036746	0.54896	.	.	ENSG00000178125	ENST00000522909;ENST00000421742;ENST00000324682	T;T	0.38722	2.15;1.12	5.37	5.37	0.77165	.	0.192317	0.64402	D	0.000006	T	0.38214	0.1032	L	0.35854	1.095	0.37921	D	0.931684	B	0.14438	0.01	B	0.24394	0.053	T	0.37197	-0.9716	10	0.72032	D	0.01	-2.9371	15.6585	0.77162	1.0:0.0:0.0:0.0	.	199	Q7Z4L9-2	.	T	199	ENSP00000429721:I199T;ENSP00000315035:I199T	ENSP00000315035:I199T	I	-	2	0	LRRC67	68063263	1.000000	0.71417	1.000000	0.80357	0.874000	0.50279	8.270000	0.89880	2.162000	0.67917	0.528000	0.53228	ATT		0.308	PPP1R42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380034.2	NM_001013626		5	9	0	0	0	1	0	5	9					G	67900709	A	G	67900709	3	3	120	1	0	0	0	0	1	0	0	0	9019	101	4	4	94	4	LRRC67	8	67900709	Missense_Mutation	SNP	A	TCGA-EJ-A65E-01A-11D-A29Q-08		67900709	78463313	20	6310											
ZNF485	220992	broad.mit.edu	37	chr10	44104101	44104101	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atgtggctgtggcctttaccCggattgagtggagacacctg	7	11	14	9	1	0	2	0	1	0	1	0	4	0	3	3	4	1	1	3	4	1	3	rs45545532	byFrequency	TCGA-EJ-A65E-01A-11D-A29Q-08	TCGA-EJ-A65E-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	914ddd96-a9b1-469b-8114-ed57c1184729	dcb67253-4e94-409e-a5cf-5a86196c1877	g.chr10:44104101C>T	ENST00000361807.3	+	3	258	c.64C>T	c.(64-66)Cgg>Tgg	p.R22W	ZNF485_ENST00000374435.3_Missense_Mutation_p.R22W|ZNF485_ENST00000374437.2_Intron	NM_145312.3	NP_660355.2	Q8NCK3	ZN485_HUMAN	zinc finger protein 485	22	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1)	16						GGCCTTTACCCGGATTGAGTG	0.562													C|||	312	0.0623003	0.056	0.0865	5008	,	,		17332	0.0119		0.1163	False		,,,				2504	0.0501					ENST00000361807.3																			0				breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1)	16						c.(64-66)Cgg>Tgg		zinc finger protein 485		C	TRP/ARG	98,1286		5,88,599	171	161	164		64	2	0	10	dbSNP_127	164	431,2751		33,365,1193	yes	missense	ZNF485	NM_145312.3	101	38,453,1792	TT,TC,CC		13.5449,7.0809,11.5856	possibly-damaging	22/442	44104101	529,4037	692	1591	2283	SO:0001583	missense	220992				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr10:44104101C>T	AK074679	CCDS7205.2	10q11.21	2013-01-08			ENSG00000198298	ENSG00000198298		"Zinc fingers, C2H2-type", "-"	23440	protein-coding gene	gene with protein product							Standard	NM_145312		Approved		uc010qfc.2	Q8NCK3	OTTHUMG00000018040	ENST00000361807.3:c.64C>T	10.37:g.44104101C>T	ENSP00000354694:p.Arg22Trp					ZNF485_ENST00000374437.2_Intron|ZNF485_ENST00000374435.3_Missense_Mutation_p.R22W	p.R22W	NM_145312.3	NP_660355.2	Q8NCK3	ZN485_HUMAN			3	258	+			22			KRAB.		B4DSE6|Q96CL0	Missense_Mutation	SNP	ENST00000361807.3	37	c.64C>T	CCDS7205.2	165	0.07554945054945054	26	0.052845528455284556	40	0.11049723756906077	8	0.013986013986013986	91	0.12005277044854881	C	13.31	2.199318	0.38806	0.070809	0.135449	ENSG00000198298	ENST00000361807;ENST00000430885;ENST00000374435	T;T;T	0.01887	4.58;4.58;4.58	2.96	2.04	0.26737	Krueppel-associated box (4);	.	.	.	.	T	0.00012	0.0000	N	0.04148	-0.265	0.51482	P	7.199999999996098E-5	B	0.02656	0.0	B	0.04013	0.001	T	0.45440	-0.9261	8	0.45353	T	0.12	.	4.2694	0.10778	0.0:0.6208:0.2395:0.1397	rs45545532;rs61729737	22	Q8NCK3	ZN485_HUMAN	W	22	ENSP00000354694:R22W;ENSP00000393570:R22W;ENSP00000363558:R22W	ENSP00000354694:R22W	R	+	1	2	ZNF485	43424107	0.000000	0.05858	0.015000	0.15790	0.921000	0.55340	-0.817000	0.04472	0.567000	0.29293	0.462000	0.41574	CGG		0.562	ZNF485-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047719.2	NM_145312		4	31	0	0	0	1	0	4	31					T	44104101	C	T	44104101	3	4	120	1	0	0	0	0	1	0	0	0	17935	643	23	2	70	2	ZNF485	10	44104101	Missense_Mutation	SNP	C	TCGA-EJ-A65E-01A-11D-A29Q-08		44104101	91430646	21	6311											
P4HA1	5033	broad.mit.edu	37	chr10	74813264	74813264	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cttgttccatccacagttccGtatggtaataatctgcttct	8	16	6	11	1	2	0	0	0	2	0	5	0	5	0	3	1	1	5	3	1	3	7			TCGA-EJ-A65E-01A-11D-A29Q-08	TCGA-EJ-A65E-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	914ddd96-a9b1-469b-8114-ed57c1184729	dcb67253-4e94-409e-a5cf-5a86196c1877	g.chr10:74813264G>C	ENST00000307116.2	-	6	664	c.548C>G	c.(547-549)aCg>aGg	p.T183R	P4HA1_ENST00000394890.2_Missense_Mutation_p.T183R|P4HA1_ENST00000263556.3_Missense_Mutation_p.T183R|P4HA1_ENST00000440381.1_Missense_Mutation_p.T183R|P4HA1_ENST00000373008.2_Missense_Mutation_p.T183R|P4HA1_ENST00000412021.2_Missense_Mutation_p.T183R			P13674	P4HA1_HUMAN	prolyl 4-hydroxylase, alpha polypeptide I	183					collagen fibril organization (GO:0030199)|peptidyl-proline hydroxylation to 4-hydroxy-L-proline (GO:0018401)	endoplasmic reticulum (GO:0005783)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrion (GO:0005739)|procollagen-proline 4-dioxygenase complex (GO:0016222)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen (GO:0016702)|procollagen-proline 4-dioxygenase activity (GO:0004656)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)	15	Prostate(51;0.0198)				Hydralazine(DB01275)|L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	CCACAGTTCCGTATGGTAATA	0.403																																					Colon(147;367 2405 2662 52127)	ENST00000412021.2																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)	15						c.(547-549)aCg>aGg		prolyl 4-hydroxylase, alpha polypeptide I	Hydralazine(DB01275)|L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)						144	137	139					10																	74813264		2203	4300	6503	SO:0001583	missense	5033					endoplasmic reticulum lumen|mitochondrion	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 4-dioxygenase activity	g.chr10:74813264G>C		CCDS7320.1, CCDS41537.1, CCDS44432.1	10q21.3-q23.1	2008-12-09	2008-12-09		ENSG00000122884	ENSG00000122884	1.14.11.2		8546	protein-coding gene	gene with protein product	"collagen prolyl 4-hydroxylase alpha(I)"	176710	"procollagen-proline, 2-oxoglutarate 4-dioxygenase (proline 4-hydroxylase), alpha polypeptide I"	P4HA		2556027	Standard	NM_001017962		Approved	C-P4Halpha(I)	uc001jtg.3	P13674	OTTHUMG00000018449	ENST00000307116.2:c.548C>G	10.37:g.74813264G>C	ENSP00000307318:p.Thr183Arg					P4HA1_ENST00000373008.2_Missense_Mutation_p.T183R|P4HA1_ENST00000307116.2_Missense_Mutation_p.T183R|P4HA1_ENST00000263556.3_Missense_Mutation_p.T183R|P4HA1_ENST00000440381.1_Missense_Mutation_p.T183R|P4HA1_ENST00000394890.2_Missense_Mutation_p.T183R	p.T183R	NM_001142595.1	NP_001136067.1	P13674	P4HA1_HUMAN			7	881	-	Prostate(51;0.0198)		183					C9JL12|Q15082|Q15083|Q5VSQ5	Missense_Mutation	SNP	ENST00000307116.2	37	c.548C>G		.	.	.	.	.	.	.	.	.	.	G	25.5	4.646305	0.87958	.	.	ENSG00000122884	ENST00000307116;ENST00000373008;ENST00000412021;ENST00000394890;ENST00000263556;ENST00000440381	T;T;T;T;T;T	0.49720	0.79;0.79;0.79;0.79;0.79;0.77	5.02	5.02	0.67125	Tetratricopeptide-like helical (1);	0.000000	0.85682	D	0.000000	T	0.73845	0.3639	M	0.89214	3.015	0.80722	D	1	D;D;D	0.67145	0.996;0.991;0.991	D;P;P	0.69654	0.965;0.872;0.872	T	0.80420	-0.1390	10	0.87932	D	0	-20.4472	18.335	0.90285	0.0:0.0:1.0:0.0	.	183;183;183	C9JL12;Q5VSQ6;P13674	.;.;P4HA1_HUMAN	R	183	ENSP00000307318:T183R;ENSP00000362099:T183R;ENSP00000411688:T183R;ENSP00000378353:T183R;ENSP00000263556:T183R;ENSP00000414464:T183R	ENSP00000263556:T183R	T	-	2	0	P4HA1	74483270	1.000000	0.71417	0.995000	0.50966	0.993000	0.82548	9.439000	0.97543	2.337000	0.79520	0.561000	0.74099	ACG		0.403	P4HA1-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000048601.1	NM_000917		11	88	0	0	0	1	0	11	88					C	74813264	G	C	74813264	3	2	120	1	0	0	0	0	1	0	0	0	11356	1145	40	5	1171	5	P4HA1	10	74813264	Missense_Mutation	SNP	G	TCGA-EJ-A65E-01A-11D-A29Q-08	30709163	74813264	60721483	22	6312											
FAM190B	54462	broad.mit.edu	37	chr10	86131742	86131742	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atggcccaggtgtaacttctActttaggttatagaatggtt	10	15	10	6	0	1	1	0	0	1	1	1	1	1	1	1	4	2	3	1	4	6	8	rs145634898		TCGA-EJ-A65E-01A-11D-A29Q-08	TCGA-EJ-A65E-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	914ddd96-a9b1-469b-8114-ed57c1184729	dcb67253-4e94-409e-a5cf-5a86196c1877	g.chr10:86131742A>G	ENST00000224756.8	+	2	1119	c.934A>G	c.(934-936)Act>Gct	p.T312A	CCSER2_ENST00000359979.4_Missense_Mutation_p.T312A|CCSER2_ENST00000372088.2_Missense_Mutation_p.T312A	NM_001284243.1|NM_018999.2	NP_001271172.1|NP_061872.2	Q9H7U1	CCSE2_HUMAN	coiled-coil serine-rich protein 2	312					microtubule bundle formation (GO:0001578)	microtubule cytoskeleton (GO:0015630)											TGTAACTTCTACTTTAGGTTA	0.408																																						ENST00000224756.8																			0											c.(934-936)Act>Gct		coiled-coil serine-rich protein 2		A	ALA/THR	0,4406		0,0,2203	101	99	100		934	2.4	1	10	dbSNP_134	100	1,8599	1.2+/-3.3	0,1,4299	no	missense	FAM190B	NM_018999.2	58	0,1,6502	GG,GA,AA		0.0116,0.0,0.0077	possibly-damaging	312/835	86131742	1,13005	2203	4300	6503	SO:0001583	missense	54462							g.chr10:86131742A>G		CCDS31235.1, CCDS60582.1, CCDS60583.1, CCDS73159.1	10q23.1	2012-12-03	2012-12-03	2012-12-03	ENSG00000107771	ENSG00000107771			29197	protein-coding gene	gene with protein product			"KIAA1128", "family with sequence similarity 190, member B"	KIAA1128, FAM190B		10574461	Standard	XM_005269905		Approved		uc001kdh.1	Q9H7U1	OTTHUMG00000018641	ENST00000224756.8:c.934A>G	10.37:g.86131742A>G	ENSP00000224756:p.Thr312Ala					CCSER2_ENST00000359979.4_Missense_Mutation_p.T312A|CCSER2_ENST00000372088.2_Missense_Mutation_p.T312A	p.T312A	NM_018999.2	NP_061872.2					2	1119	+								B4DFY4|B4DQU9|B7WPE8|D3DWE2|Q8N6E9|Q9H2S0|Q9ULU1	Missense_Mutation	SNP	ENST00000224756.8	37	c.934A>G	CCDS31235.1	.	.	.	.	.	.	.	.	.	.	A	7.461	0.644651	0.14451	0.0	1.16E-4	ENSG00000107771	ENST00000359979;ENST00000224756;ENST00000372088	T;T;T	0.43294	0.95;2.29;2.28	5.01	2.42	0.29668	.	0.243859	0.31897	N	0.006883	T	0.30262	0.0759	L	0.44542	1.39	0.80722	D	1	B;B;B	0.32101	0.356;0.122;0.135	B;B;B	0.33454	0.164;0.059;0.107	T	0.08806	-1.0704	10	0.44086	T	0.13	-16.1018	4.8269	0.13421	0.5014:0.1702:0.0:0.3284	.	312;312;312	Q9H7U1-3;Q9H7U1;Q9H7U1-2	.;F190B_HUMAN;.	A	312	ENSP00000353068:T312A;ENSP00000224756:T312A;ENSP00000361160:T312A	ENSP00000224756:T312A	T	+	1	0	FAM190B	86121722	0.996000	0.38824	1.000000	0.80357	0.977000	0.68977	1.026000	0.30103	0.972000	0.38314	0.533000	0.62120	ACT		0.408	CCSER2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049132.2	NM_018999		6	120	0	0	0	1	0	6	120					G	86131742	A	G	86131742	3	3	120	1	0	0	0	0	1	0	0	0	5522	391	14	4	936	4	FAM190B	10	86131742	Missense_Mutation	SNP	A	TCGA-EJ-A65E-01A-11D-A29Q-08	11318478	86131742	49403005	23	6313											
OR51F2	119694	broad.mit.edu	37	chr11	4842772	4842772	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtctcctatatgttgttgccGtctctggaaatagcatgatc	8	15	9	9	1	2	1	0	1	2	0	5	2	2	2	2	1	2	3	2	1	4	5	rs147733457	byFrequency	TCGA-EJ-A65E-01A-11D-A29Q-08	TCGA-EJ-A65E-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	914ddd96-a9b1-469b-8114-ed57c1184729	dcb67253-4e94-409e-a5cf-5a86196c1877	g.chr11:4842772G>A	ENST00000322110.5	+	1	222	c.157G>A	c.(157-159)Gtc>Atc	p.V53I	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001004753.1	NP_001004753.1	Q8NH61	O51F2_HUMAN	olfactory receptor, family 51, subfamily F, member 2	53						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V53I(1)		breast(2)|endometrium(4)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		TGTTGTTGCCGTCTCTGGAAA	0.493													a|||	4	0.000798722	0	0	5008	,	,		20322	0		0.001	False		,,,				2504	0.0031					ENST00000322110.5																			1	Substitution - Missense(1)	p.V53I(1)	endometrium(1)	breast(2)|endometrium(4)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)	33						c.(157-159)Gtc>Atc		olfactory receptor, family 51, subfamily F, member 2		A	ILE/VAL	1,4401	825.8+/-416.5	0,1,2200	277	273	275		157	-1.2	0.2	11	dbSNP_134	275	7,8589	818.8+/-406.8	0,7,4291	yes	missense	OR51F2	NM_001004753.1	29	0,8,6491	AA,AG,GG		0.0814,0.0227,0.0615	benign	53/343	4842772	8,12990	2201	4298	6499	SO:0001583	missense	119694				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4842772G>A	BK004281	CCDS31361.1	11p15.4	2012-08-09			ENSG00000176925	ENSG00000176925		"GPCR / Class A : Olfactory receptors"	15197	protein-coding gene	gene with protein product							Standard	NM_001004753		Approved		uc010qyn.2	Q8NH61	OTTHUMG00000066508	ENST00000322110.5:c.157G>A	11.37:g.4842772G>A	ENSP00000323952:p.Val53Ile					MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	p.V53I	NM_001004753.1	NP_001004753.1	Q8NH61	O51F2_HUMAN		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)	1	222	+		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778)	53					Q6IFI1	Missense_Mutation	SNP	ENST00000322110.5	37	c.157G>A	CCDS31361.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	a	4.925	0.171817	0.09391	2.27E-4	8.14E-4	ENSG00000176925	ENST00000322110	T	0.02890	4.12	4.6	-1.21	0.09524	.	0.803958	0.09995	N	0.729123	T	0.01124	0.0037	N	0.02765	-0.5	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.48758	-0.9007	10	0.09843	T	0.71	.	4.2809	0.10833	0.3196:0.2956:0.3145:0.0703	.	53	Q8NH61	O51F2_HUMAN	I	53	ENSP00000323952:V53I	ENSP00000323952:V53I	V	+	1	0	OR51F2	4799348	0.000000	0.05858	0.225000	0.23894	0.015000	0.08874	-2.768000	0.00781	-0.220000	0.09988	-2.769000	0.00120	GTC		0.493	OR51F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142181.1	NM_001004753		11	240	0	0	0	1	0	11	240					A	4842772	G	A	4842772	3	1	120	1	0	0	0	0	1	0	0	0	11097	1145	40	1	159	1	OR51F2	11	4842772	Missense_Mutation	SNP	G	TCGA-EJ-A65E-01A-11D-A29Q-08		4842772	130163744	24	6314											
LRRC55	219527	broad.mit.edu	37	chr11	56949994	56949994	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ggcctcatgcagctccgagaCctggacctcagttatggggg	7	8	14	12	1	2	1	2	0	0	1	3	3	3	2	4	4	2	3	4	4	1	1			TCGA-EJ-A65E-01A-11D-A29Q-08	TCGA-EJ-A65E-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	914ddd96-a9b1-469b-8114-ed57c1184729	dcb67253-4e94-409e-a5cf-5a86196c1877	g.chr11:56949994C>T	ENST00000497933.1	+	1	774	c.627C>T	c.(625-627)gaC>gaT	p.D209D		NM_001005210.2	NP_001005210.1	Q6ZSA7	LRC55_HUMAN	leucine rich repeat containing 55	179	LRRCT.				ion transport (GO:0006811)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(13)|ovary(2)|skin(2)	25						AGCTCCGAGACCTGGACCTCA	0.652																																						ENST00000497933.1																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(13)|ovary(2)|skin(2)	25						c.(625-627)gaC>gaT		leucine rich repeat containing 55							55	56	56					11																	56949994		2201	4296	6497	SO:0001819	synonymous_variant	219527					integral to membrane		g.chr11:56949994C>T		CCDS31539.1	11q12.1	2008-02-05			ENSG00000183908	ENSG00000183908			32324	protein-coding gene	gene with protein product		615213					Standard	NM_001005210		Approved	FLJ45686	uc001njl.2	Q6ZSA7	OTTHUMG00000159309	ENST00000497933.1:c.627C>T	11.37:g.56949994C>T							p.D209D	NM_001005210.2	NP_001005210.1	Q6ZSA7	LRC55_HUMAN			1	774	+			179			LRRCT.		A7E2U7|B2RN81	Silent	SNP	ENST00000497933.1	37	c.627C>T	CCDS31539.1																																																																																				0.652	LRRC55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354503.2	NM_001005210		27	58	0	0	0	1	0	27	58					T	56949994	C	T	56949994	2	4	120	1	0	0	0	0	0	0	0	1	9011	506	18	3		3	LRRC55	11	56949994	Silent	SNP	C	TCGA-EJ-A65E-01A-11D-A29Q-08	52107222	56949994	78056522	25	6315											
PPP1CA	5499	broad.mit.edu	37	chr11	67167115	67167115	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cagtgaaggttttccacagtTtgatgttgtagcgtctcttg	7	16	11	7	1	1	2	0	2	1	0	3	2	2	2	1	1	1	4	1	1	2	6			TCGA-EJ-A65E-01A-11D-A29Q-08	TCGA-EJ-A65E-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	914ddd96-a9b1-469b-8114-ed57c1184729	dcb67253-4e94-409e-a5cf-5a86196c1877	g.chr11:67167115T>A	ENST00000376745.4	-	4	588	c.440A>T	c.(439-441)aAa>aTa	p.K147I	PPP1CA_ENST00000358239.4_Missense_Mutation_p.K103I|PPP1CA_ENST00000312989.7_Missense_Mutation_p.K158I|PPP1CA_ENST00000532446.1_5'UTR	NM_001008709.1|NM_002708.3	NP_001008709.1|NP_002699.1	P62136	PP1A_HUMAN	protein phosphatase 1, catalytic subunit, alpha isozyme	147					branching morphogenesis of an epithelial tube (GO:0048754)|cell cycle (GO:0007049)|cell division (GO:0051301)|circadian regulation of gene expression (GO:0032922)|entrainment of circadian clock by photoperiod (GO:0043153)|glycogen metabolic process (GO:0005977)|lung development (GO:0030324)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|protein dephosphorylation (GO:0006470)|regulation of circadian rhythm (GO:0042752)|regulation of glycogen biosynthetic process (GO:0005979)|regulation of glycogen catabolic process (GO:0005981)|small molecule metabolic process (GO:0044281)|transforming growth factor beta receptor signaling pathway (GO:0007179)|triglyceride catabolic process (GO:0019433)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|glycogen granule (GO:0042587)|MLL5-L complex (GO:0070688)|nucleus (GO:0005634)|perikaryon (GO:0043204)|protein phosphatase type 1 complex (GO:0000164)|PTW/PP1 phosphatase complex (GO:0072357)	metal ion binding (GO:0046872)|phosphatase activity (GO:0016791)|protein serine/threonine phosphatase activity (GO:0004722)|ribonucleoprotein complex binding (GO:0043021)			breast(1)|lung(2)|pancreas(1)|urinary_tract(3)	7			BRCA - Breast invasive adenocarcinoma(15;8.53e-07)			TTTCCACAGTTTGATGTTGTA	0.607																																						ENST00000376745.4																			0				breast(1)|lung(2)|pancreas(1)|urinary_tract(3)	7						c.(439-441)aAa>aTa		protein phosphatase 1, catalytic subunit, alpha isozyme							204	163	177					11																	67167115		2200	4295	6495	SO:0001583	missense	5499				cell cycle|cell division|glycogen metabolic process|protein dephosphorylation|triglyceride catabolic process	cytosol|MLL5-L complex|nucleolus|PTW/PP1 phosphatase complex	metal ion binding|protein binding|protein phosphatase type 1 regulator activity|protein serine/threonine phosphatase activity	g.chr11:67167115T>A		CCDS8160.1, CCDS8161.1, CCDS31618.1	11q13	2013-01-18	2010-03-05			ENSG00000172531	3.1.3.16	"Serine/threonine phosphatases / Protein phosphatase, catalytic subunits"	9281	protein-coding gene	gene with protein product		176875	"protein phosphatase 1, catalytic subunit, alpha isoform"	PPP1A			Standard	NM_002708		Approved	PP1A, PP-1A, PP1alpha	uc001oku.1	P62136		ENST00000376745.4:c.440A>T	11.37:g.67167115T>A	ENSP00000365936:p.Lys147Ile					PPP1CA_ENST00000312989.7_Missense_Mutation_p.K158I|PPP1CA_ENST00000358239.4_Missense_Mutation_p.K103I|PPP1CA_ENST00000532446.1_5'UTR	p.K147I	NM_001008709.1|NM_002708.3	NP_001008709.1|NP_002699.1	P62136	PP1A_HUMAN	BRCA - Breast invasive adenocarcinoma(15;8.53e-07)		4	588	-			147					A6NNR3|B2R908|P08129|P20653|P22802|Q07161	Missense_Mutation	SNP	ENST00000376745.4	37	c.440A>T	CCDS8160.1	.	.	.	.	.	.	.	.	.	.	T	18.20	3.570696	0.65765	.	.	ENSG00000172531	ENST00000312989;ENST00000451458;ENST00000376745;ENST00000358239	T;T;T	0.06371	3.31;3.31;3.31	5.1	3.97	0.46021	Serine/threonine-specific protein phosphatase/bis(5-nucleosyl)-tetraphosphatase (1);Metallophosphoesterase domain (1);	0.000000	0.85682	D	0.000000	T	0.25269	0.0614	M	0.86028	2.79	0.58432	D	0.999999	P;P;B;B;B;B	0.48294	0.908;0.908;0.151;0.346;0.042;0.129	D;D;P;P;P;P	0.66847	0.947;0.911;0.643;0.636;0.546;0.73	T	0.00500	-1.1703	10	0.87932	D	0	.	9.817	0.40858	0.0:0.0826:0.0:0.9174	.	244;244;147;103;158;156	B3KXM2;E9PDP1;P62136;A6NNR3;Q07161;F8W0W8	.;.;PP1A_HUMAN;.;.;.	I	158;244;147;103	ENSP00000326031:K158I;ENSP00000365936:K147I;ENSP00000350974:K103I	ENSP00000326031:K158I	K	-	2	0	PPP1CA	66923691	1.000000	0.71417	0.709000	0.30452	0.253000	0.25986	8.033000	0.88852	0.792000	0.33850	0.460000	0.39030	AAA		0.607	PPP1CA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395487.1	NM_002708		5	31	0	0	0	1	0	5	31					A	67167115	T	A	67167115	3	1	120	1	0	0	0	0	1	0	0	0	12349	1841	64	5	568	5	PPP1CA	11	67167115	Missense_Mutation	SNP	T	TCGA-EJ-A65E-01A-11D-A29Q-08	10217121	67167115	67839401	26	6316											
PPP2R1B	5519	broad.mit.edu	37	chr11	111625227	111625227	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ataaagtcaggtttacctttAtataaggcagaatttgattc	14	15	7	5	0	1	2	1	1	0	1	2	2	1	2	1	2	1	2	1	2	7	9			TCGA-EJ-A65E-01A-11D-A29Q-08	TCGA-EJ-A65E-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	914ddd96-a9b1-469b-8114-ed57c1184729	dcb67253-4e94-409e-a5cf-5a86196c1877	g.chr11:111625227A>C	ENST00000527614.1	-	8	1090	c.1025T>G	c.(1024-1026)aTa>aGa	p.I342R	PPP2R1B_ENST00000427203.2_Missense_Mutation_p.I181R|PPP2R1B_ENST00000426998.2_Missense_Mutation_p.I278R|PPP2R1B_ENST00000311129.5_Missense_Mutation_p.I342R|PPP2R1B_ENST00000341980.6_Missense_Mutation_p.I342R|PPP2R1B_ENST00000393055.2_Missense_Mutation_p.I215R	NM_001177562.1|NM_002716.4	NP_001171033.1|NP_002707.3	P30154	2AAB_HUMAN	protein phosphatase 2, regulatory subunit A, beta	342					apoptotic process involved in morphogenesis (GO:0060561)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)	extracellular vesicular exosome (GO:0070062)|membrane raft (GO:0045121)				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|liver(1)|lung(10)|prostate(1)|urinary_tract(2)	22		all_cancers(61;2.34e-15)|all_epithelial(67;1.72e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|Epithelial(105;2.36e-06)|all cancers(92;3.78e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0761)		GTTTACCTTTATATAAGGCAG	0.294																																						ENST00000527614.1																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|liver(1)|lung(10)|prostate(1)|urinary_tract(2)	22						c.(1024-1026)aTa>aGa		protein phosphatase 2, regulatory subunit A, beta							76	78	77					11																	111625227		2200	4295	6495	SO:0001583	missense	5519						protein binding	g.chr11:111625227A>C	AF087438	CCDS8348.1, CCDS8349.1, CCDS53706.1, CCDS53707.1, CCDS53708.1	11q23.1	2010-06-18	2010-04-14		ENSG00000137713	ENSG00000137713	3.1.3.16	"Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"	9303	protein-coding gene	gene with protein product	"PP2A-A-beta", "protein phosphatase 2A, regulatory subunit A, beta isoform"	603113	"protein phosphatase 2 (formerly 2A), regulatory subunit A (PR 65), beta isoform", "protein phosphatase 2 (formerly 2A), regulatory subunit A, beta isoform"			2159327, 9795170	Standard	NM_181699		Approved	PR65B, PP2A-Abeta	uc001plw.1	P30154	OTTHUMG00000166741	ENST00000527614.1:c.1025T>G	11.37:g.111625227A>C	ENSP00000437193:p.Ile342Arg					PPP2R1B_ENST00000311129.5_Missense_Mutation_p.I342R|PPP2R1B_ENST00000426998.2_Missense_Mutation_p.I278R|PPP2R1B_ENST00000341980.6_Missense_Mutation_p.I342R|PPP2R1B_ENST00000427203.2_Missense_Mutation_p.I181R|PPP2R1B_ENST00000393055.2_Missense_Mutation_p.I215R	p.I342R	NM_001177562.1|NM_002716.4	NP_001171033.1|NP_002707.3	P30154	2AAB_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|Epithelial(105;2.36e-06)|all cancers(92;3.78e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0761)	8	1090	-		all_cancers(61;2.34e-15)|all_epithelial(67;1.72e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)	342					A8MY67|B0YJ69|B4DGQ6|B4DK91|B4DWW5|F8W8G1|O75620|Q8NHV8	Missense_Mutation	SNP	ENST00000527614.1	37	c.1025T>G	CCDS8349.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	23.7|23.7	4.443310|4.443310	0.83993|0.83993	.|.	.|.	ENSG00000137713|ENSG00000137713	ENST00000311129;ENST00000412902;ENST00000426998;ENST00000527614;ENST00000427203;ENST00000341980;ENST00000393055|ENST00000531890	T;T;T;T;T;T|.	0.37411|.	1.2;1.2;1.2;1.2;1.2;1.2|.	5.87|5.87	5.87|5.87	0.94306|0.94306	Armadillo-like helical (1);Armadillo-type fold (1);|.	0.206543|.	0.50627|.	D|.	0.000114|.	T|.	0.73194|.	0.3556|.	M|M	0.67397|0.67397	2.05|2.05	0.80722|0.80722	D|D	1|1	P;P;B;D;P;D|.	0.89917|.	0.933;0.704;0.382;0.999;0.89;1.0|.	P;P;B;D;B;D|.	0.80764|.	0.683;0.664;0.237;0.98;0.432;0.994|.	T|.	0.75733|.	-0.3214|.	10|.	0.87932|0.66056	D|D	0|0.02	-3.1383|-3.1383	14.2166|14.2166	0.65797|0.65797	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	215;342;181;278;342;342|.	A8MY67;F8W8G1;B7Z1G3;B4DWW5;P30154;P30154-2|.	.;.;.;.;2AAB_HUMAN;.|.	R|X	342;215;278;342;181;342;215|42	ENSP00000311344:I342R;ENSP00000410671:I278R;ENSP00000437193:I342R;ENSP00000415759:I181R;ENSP00000343317:I342R;ENSP00000376775:I215R|.	ENSP00000311344:I342R|ENSP00000433598:Y42X	I|Y	-|-	2|3	0|2	PPP2R1B|PPP2R1B	111130437|111130437	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.836000|0.836000	0.47400|0.47400	8.045000|8.045000	0.89436|0.89436	2.244000|2.244000	0.73946|0.73946	0.533000|0.533000	0.62120|0.62120	ATA|TAT		0.294	PPP2R1B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000391298.1	NM_002716		11	18	0	0	0	1	0	11	18					C	111625227	A	C	111625227	3	2	120	1	0	0	0	0	1	0	0	0	12383	449	16	5	1035	5	PPP2R1B	11	111625227	Missense_Mutation	SNP	A	TCGA-EJ-A65E-01A-11D-A29Q-08	44458112	111625227	23381289	27	6317											
C2CD2L	9854	broad.mit.edu	37	chr11	118986790	118986790	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcggcactaagctcatcttcCgccggaggcctaggcagaag	9	6	13	13	3	2	1	1	0	1	1	3	2	3	2	3	4	1	3	3	4	3	3			TCGA-EJ-A65E-01A-11D-A29Q-08	TCGA-EJ-A65E-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	914ddd96-a9b1-469b-8114-ed57c1184729	dcb67253-4e94-409e-a5cf-5a86196c1877	g.chr11:118986790C>T	ENST00000336702.3	+	14	2307	c.1948C>T	c.(1948-1950)Cgc>Tgc	p.R650C	C2CD2L_ENST00000528586.1_3'UTR	NM_014807.3	NP_055622.3	O14523	C2C2L_HUMAN	C2CD2-like	649						integral component of membrane (GO:0016021)				NS(1)|endometrium(1)|large_intestine(2)|lung(8)|prostate(1)	13						GCTCATCTTCCGCCGGAGGCC	0.637																																						ENST00000336702.3																			0				NS(1)|endometrium(1)|large_intestine(2)|lung(8)|prostate(1)	13						c.(1948-1950)Cgc>Tgc		C2CD2-like							56	53	54					11																	118986790		2200	4295	6495	SO:0001583	missense	9854					integral to membrane		g.chr11:118986790C>T	AK025223	CCDS8413.1	11q23.3	2008-04-22	2008-04-22	2008-04-22		ENSG00000172375			29000	protein-coding gene	gene with protein product			"transmembrane protein 24"	TMEM24		15289880	Standard	XM_005271738		Approved	KIAA0285	uc001pvn.3	O14523		ENST00000336702.3:c.1948C>T	11.37:g.118986790C>T	ENSP00000338885:p.Arg650Cys					C2CD2L_ENST00000528586.1_3'UTR	p.R650C	NM_014807.3	NP_055622.3	O14523	C2C2L_HUMAN			14	2307	+			649					Q86UT7|Q86V04|Q8N522|Q8TBN4|Q96G10	Missense_Mutation	SNP	ENST00000336702.3	37	c.1948C>T	CCDS8413.1	.	.	.	.	.	.	.	.	.	.	C	27.2	4.805683	0.90623	.	.	ENSG00000172375	ENST00000336702	T	0.59364	0.27	5.21	5.21	0.72293	.	0.000000	0.85682	D	0.000000	T	0.75997	0.3926	M	0.73217	2.22	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.78262	-0.2272	10	0.87932	D	0	-0.333	17.918	0.88958	0.0:1.0:0.0:0.0	.	649;650	O14523;O14523-2	C2C2L_HUMAN;.	C	650	ENSP00000338885:R650C	ENSP00000338885:R650C	R	+	1	0	C2CD2L	118492000	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	3.406000	0.52637	2.693000	0.91896	0.655000	0.94253	CGC		0.637	C2CD2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388197.2	NM_014807		8	42	0	0	0	1	0	8	42					T	118986790	C	T	118986790	3	4	120	1	0	0	0	0	1	0	0	0	2153	652	23	2	2002	2	C2CD2L	11	118986790	Missense_Mutation	SNP	C	TCGA-EJ-A65E-01A-11D-A29Q-08	7361563	118986790	16019726	28	6318											
LRTM2	654429	broad.mit.edu	37	chr12	1943629	1943629	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cccaagcccggggctgagccGgagccggagcccagcacagc	8	1	15	17	3	0	1	0	1	0	0	0	3	0	3	5	4	6	2	5	4	1	0			TCGA-EJ-A65E-01A-11D-A29Q-08	TCGA-EJ-A65E-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	914ddd96-a9b1-469b-8114-ed57c1184729	dcb67253-4e94-409e-a5cf-5a86196c1877	g.chr12:1943629G>A	ENST00000543818.1	+	5	1697	c.855G>A	c.(853-855)ccG>ccA	p.P285P	CACNA2D4_ENST00000588077.1_Intron|LRTM2_ENST00000299194.1_Silent_p.P285P|CACNA2D4_ENST00000585732.1_Intron|LRTM2_ENST00000535041.1_Silent_p.P285P|CACNA2D4_ENST00000382722.5_Intron|CACNA2D4_ENST00000587995.1_Intron|CACNA2D4_ENST00000586184.1_Intron|LRTM2_ENST00000543730.1_3'UTR|CACNA2D4_ENST00000585708.1_Intron	NM_001039029.2|NM_001163925.1|NM_001163926.1	NP_001034118.1|NP_001157397.1|NP_001157398.1	Q8N967	LRTM2_HUMAN	leucine-rich repeats and transmembrane domains 2	285						integral component of membrane (GO:0016021)				NS(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	20	Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.000834)			GGGCTGAGCCGGAGCCGGAGC	0.672																																						ENST00000543818.1																			0				NS(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	20						c.(853-855)ccG>ccA		leucine-rich repeats and transmembrane domains 2							30	32	31					12																	1943629		2201	4300	6501	SO:0001819	synonymous_variant	0					integral to membrane		g.chr12:1943629G>A	AK095610	CCDS31726.1	12p13.33	2008-02-05				ENSG00000166159			32443	protein-coding gene	gene with protein product							Standard	NM_001039029		Approved		uc010sdx.1	Q8N967		ENST00000543818.1:c.855G>A	12.37:g.1943629G>A						CACNA2D4_ENST00000382722.5_Intron|LRTM2_ENST00000535041.1_Silent_p.P285P|LRTM2_ENST00000299194.1_Silent_p.P285P|CACNA2D4_ENST00000586184.1_Intron|CACNA2D4_ENST00000588077.1_Intron|CACNA2D4_ENST00000587995.1_Intron|CACNA2D4_ENST00000585708.1_Intron|LRTM2_ENST00000543730.1_3'UTR|CACNA2D4_ENST00000585732.1_Intron	p.P285P	NM_001039029.2|NM_001163925.1|NM_001163926.1	NP_001034118.1|NP_001157397.1|NP_001157398.1	Q8N967	LRTM2_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.000834)		5	1697	+	Ovarian(42;0.107)		285					A7E2U6	Silent	SNP	ENST00000543818.1	37	c.855G>A	CCDS31726.1																																																																																				0.672	LRTM2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398055.1			24	49	0	0	0	1	0	24	49					A	1943629	G	A	1943629	2	1	120	1	0	0	0	0	0	0	0	1	9045	1103	39	2		2	LRTM2	12	1943629	Silent	SNP	G	TCGA-EJ-A65E-01A-11D-A29Q-08		1943629	131908266	29	6319											
SLC4A8	9498	broad.mit.edu	37	chr12	51882523	51882523	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	atggattattaatcccattgGccccaatccctggtggactg	9	12	9	11	0	0	0	0	0	0	0	2	2	2	2	4	4	0	0	4	4	3	3			TCGA-EJ-A65E-01A-11D-A29Q-08	TCGA-EJ-A65E-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	914ddd96-a9b1-469b-8114-ed57c1184729	dcb67253-4e94-409e-a5cf-5a86196c1877	g.chr12:51882523G>T	ENST00000453097.2	+	18	2544	c.2327G>T	c.(2326-2328)gGc>gTc	p.G776V	SLC4A8_ENST00000358657.3_Missense_Mutation_p.G803V	NM_001039960.2|NM_001258401.2	NP_001035049.1|NP_001245330.1			solute carrier family 4, sodium bicarbonate cotransporter, member 8											NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(18)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(2)|urinary_tract(5)	55				BRCA - Breast invasive adenocarcinoma(357;0.15)		AATCCCATTGGCCCCAATCCC	0.393																																						ENST00000453097.2																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(18)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(2)|urinary_tract(5)	55						c.(2326-2328)gGc>gTc		solute carrier family 4, sodium bicarbonate cotransporter, member 8							127	111	116					12																	51882523		2203	4300	6503	SO:0001583	missense	9498				bicarbonate transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity	g.chr12:51882523G>T	AB018282	CCDS44890.1, CCDS58232.1, CCDS58233.1, CCDS73470.1	12q13.13	2013-05-22			ENSG00000050438	ENSG00000050438		"Solute carriers"	11034	protein-coding gene	gene with protein product		605024				11133997	Standard	NM_001039960		Approved	NBC3	uc001rys.2	Q2Y0W8	OTTHUMG00000169489	ENST00000453097.2:c.2327G>T	12.37:g.51882523G>T	ENSP00000405812:p.Gly776Val					SLC4A8_ENST00000358657.3_Missense_Mutation_p.G803V	p.G776V	NM_001039960.2|NM_001258401.2	NP_001035049.1|NP_001245330.1	Q2Y0W8	S4A8_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.15)	18	2544	+			776						Missense_Mutation	SNP	ENST00000453097.2	37	c.2327G>T	CCDS44890.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.204651	0.79127	.	.	ENSG00000050438	ENST00000358657;ENST00000453097;ENST00000319957;ENST00000551071	T;T	0.79554	-1.28;-1.28	4.09	4.09	0.47781	Bicarbonate transporter, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.92489	0.7615	H	0.95294	3.65	0.80722	D	1	D;D;D	0.89917	0.995;1.0;0.999	D;D;D	0.97110	0.952;1.0;0.995	D	0.94850	0.8013	10	0.87932	D	0	.	15.9702	0.80008	0.0:0.0:1.0:0.0	.	803;776;776	Q2Y0W8-2;Q2Y0W8;Q2Y0W8-3	.;S4A8_HUMAN;.	V	803;776;776;723	ENSP00000351483:G803V;ENSP00000405812:G776V	ENSP00000315789:G776V	G	+	2	0	SLC4A8	50168790	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.809000	0.99208	2.224000	0.72417	0.460000	0.39030	GGC		0.393	SLC4A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404356.1	NM_004858		27	73	1	0	6.12954e-19	1	6.77475e-19	27	73					T	51882523	G	T	51882523	3	4	120	1	0	0	0	0	1	0	0	0	14659	1203	42	5	2397	5	SLC4A8	12	51882523	Missense_Mutation	SNP	G	TCGA-EJ-A65E-01A-11D-A29Q-08	49938894	51882523	81969372	30	6320											
USP30	84749	broad.mit.edu	37	chr12	109523652	109523652	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccagcctgcaggaggtcctGtcctccagcgcctacctgct	5	8	11	17	1	0	0	0	0	0	0	3	1	3	1	7	2	5	2	7	2	1	1			TCGA-EJ-A65E-01A-11D-A29Q-08	TCGA-EJ-A65E-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	914ddd96-a9b1-469b-8114-ed57c1184729	dcb67253-4e94-409e-a5cf-5a86196c1877	g.chr12:109523652G>T	ENST00000257548.5	+	13	1563	c.1470G>T	c.(1468-1470)ctG>ctT	p.L490L	USP30_ENST00000392784.2_Silent_p.L459L	NM_032663.3	NP_116052.2	Q70CQ3	UBP30_HUMAN	ubiquitin specific peptidase 30	490	USP.				mitochondrial fusion (GO:0008053)|mitochondrion degradation (GO:0000422)|protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)	integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	cysteine-type endopeptidase activity (GO:0004197)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			endometrium(7)|kidney(1)|large_intestine(1)|liver(2)|lung(11)|prostate(1)|skin(3)|stomach(2)	28						AGGAGGTCCTGTCCTCCAGCG	0.597																																						ENST00000257548.5																			0				endometrium(7)|kidney(1)|large_intestine(1)|liver(2)|lung(11)|prostate(1)|skin(3)|stomach(2)	28						c.(1468-1470)ctG>ctT		ubiquitin specific peptidase 30							92	74	80					12																	109523652		2203	4300	6503	SO:0001819	synonymous_variant	84749				ubiquitin-dependent protein catabolic process	integral to membrane|mitochondrial outer membrane	cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr12:109523652G>T	BC022094	CCDS9123.2	12q23.3	2006-01-20	2005-08-08		ENSG00000135093	ENSG00000135093		"Ubiquitin-specific peptidases"	20065	protein-coding gene	gene with protein product		612492	"ubiquitin specific protease 30"			12838346	Standard	XM_005253962		Approved	MGC10702, FLJ40511	uc010sxi.2	Q70CQ3	OTTHUMG00000133613	ENST00000257548.5:c.1470G>T	12.37:g.109523652G>T						USP30_ENST00000392784.2_Silent_p.L459L	p.L490L	NM_032663.3	NP_116052.2	Q70CQ3	UBP30_HUMAN			13	1563	+			490					Q8WTU7|Q96JX4|Q9BSS3	Silent	SNP	ENST00000257548.5	37	c.1470G>T	CCDS9123.2																																																																																				0.597	USP30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257733.2	NM_032663		5	34	1	0	0.000602214	1	0.000640329	5	34					T	109523652	G	T	109523652	2	4	120	1	0	0	0	0	0	0	0	1	17058	1364	48	5		5	USP30	12	109523652	Silent	SNP	G	TCGA-EJ-A65E-01A-11D-A29Q-08	57641129	109523652	24328243	31	6321											
PDS5B	23047	broad.mit.edu	37	chr13	33226030	33226030	+	Frame_Shift_Del	DEL	T	T	-																															gctttacatcttgcttcagaTttttttctcaagcatcctga																										TCGA-EJ-A65E-01A-11D-A29Q-08	TCGA-EJ-A65E-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	914ddd96-a9b1-469b-8114-ed57c1184729	dcb67253-4e94-409e-a5cf-5a86196c1877	g.chr13:33226030delT	ENST00000315596.10	+	3	384	c.198delT	c.(196-198)gatfs	p.D66fs		NM_015032.3	NP_055847.1	Q9NTI5	PDS5B_HUMAN	PDS5, regulator of cohesion maintenance, homolog B (S. cerevisiae)	66					cell proliferation (GO:0008283)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid cohesion (GO:0007064)|negative regulation of cell proliferation (GO:0008285)|regulation of cell proliferation (GO:0042127)	chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|lung(14)|ovary(5)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	62		Lung SC(185;0.0367)		all cancers(112;5.55e-06)|Epithelial(112;2.7e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00303)|BRCA - Breast invasive adenocarcinoma(63;0.0204)		TTGCTTCAGATTTTTTTCTCA	0.383																																						ENST00000315596.10																			0				NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|lung(14)|ovary(5)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	62						c.(196-198)gafs		PDS5, regulator of cohesion maintenance, homolog B (S. cerevisiae)							148	143	145					13																	33226030		1847	4098	5945	SO:0001589	frameshift_variant	23047				cell division|cell proliferation|mitotic sister chromatid cohesion|negative regulation of cell proliferation	chromatin|nucleus	ATP binding|DNA binding|identical protein binding	g.chr13:33226030delT	AB023196	CCDS41878.1	13q12.3	2008-02-05	2007-07-18	2007-07-18	ENSG00000083642	ENSG00000083642			20418	protein-coding gene	gene with protein product		605333	"androgen-induced proliferation inhibitor"	APRIN		8812419, 10215036	Standard	NM_015032		Approved	AS3, KIAA0979, FLJ23236, CG008	uc010abf.3	Q9NTI5	OTTHUMG00000016704	ENST00000315596.10:c.198delT	13.37:g.33226030delT	ENSP00000313851:p.Asp66fs						p.D66fs	NM_015032.3	NP_055847.1	Q9NTI5	PDS5B_HUMAN		all cancers(112;5.55e-06)|Epithelial(112;2.7e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00303)|BRCA - Breast invasive adenocarcinoma(63;0.0204)	3	384	+		Lung SC(185;0.0367)	66					Q5R3S3|Q5W0K8|Q6NSC3|Q8IXT6|Q9H5N8|Q9Y2I5|Q9Y451	Frame_Shift_Del	DEL	ENST00000315596.10	37	c.198delT	CCDS41878.1																																																																																				0.383	PDS5B-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044428.3	NM_015032		32	82						32	82	---	---	---	---	-	33226030	T	-	33226030	7	5	120	1	0	1	0	1	0	0	0	0	11692	1490	52	0	204	0	PDS5B	13	33226030	Frame_Shift_Del	DEL	T	TCGA-EJ-A65E-01A-11D-A29Q-08		33226030	81943848	32	6322											
TRPC4	7223	broad.mit.edu	37	chr13	38211582	38211582	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atgaatcagggtggttaaatCaaaaaggctgaaattctttt	15	13	9	4	0	3	2	2	2	1	0	3	2	3	2	0	3	0	2	0	3	6	4			TCGA-EJ-A65E-01A-11D-A29Q-08	TCGA-EJ-A65E-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	914ddd96-a9b1-469b-8114-ed57c1184729	dcb67253-4e94-409e-a5cf-5a86196c1877	g.chr13:38211582C>G	ENST00000379705.3	-	11	3249	c.2392G>C	c.(2392-2394)Gat>Cat	p.D798H	TRPC4_ENST00000379681.3_Missense_Mutation_p.D803H|TRPC4_ENST00000358477.2_Intron|TRPC4_ENST00000426868.2_Intron|TRPC4_ENST00000338947.5_Missense_Mutation_p.D625H|TRPC4_ENST00000379673.2_Intron|TRPC4_ENST00000447043.1_Intron|TRPC4_ENST00000355779.2_Intron|TRPC4_ENST00000379679.1_Missense_Mutation_p.D625H			Q9UBN4	TRPC4_HUMAN	transient receptor potential cation channel, subfamily C, member 4	798	Binds to ITPR1, ITPR2 and ITPR3.				axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|gamma-aminobutyric acid secretion (GO:0014051)|ion transmembrane transport (GO:0034220)|oligodendrocyte differentiation (GO:0048709)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|calcium channel complex (GO:0034704)|caveola (GO:0005901)|cell surface (GO:0009986)|cortical cytoskeleton (GO:0030863)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|inositol 1,4,5 trisphosphate binding (GO:0070679)|store-operated calcium channel activity (GO:0015279)			NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	83				all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)		GTGGTTAAATCAAAAAGGCTG	0.463																																						ENST00000379705.3																			0				NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	83						c.(2392-2394)Gat>Cat		transient receptor potential cation channel, subfamily C, member 4							85	82	83					13																	38211582		2203	4300	6503	SO:0001583	missense	7223				axon guidance|calcium ion import	basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton	beta-catenin binding|cadherin binding|store-operated calcium channel activity	g.chr13:38211582C>G	U40983	CCDS9365.1, CCDS45035.1, CCDS45036.1, CCDS45038.1, CCDS45039.1	13q13.3	2013-01-10			ENSG00000133107	ENSG00000133107		"Voltage-gated ion channels / Transient receptor potential cation channels", "Ankyrin repeat domain containing"	12336	protein-coding gene	gene with protein product		603651				8646775, 16382100	Standard	NM_016179		Approved	HTRP4, TRP4	uc010abx.3	Q9UBN4	OTTHUMG00000016752	ENST00000379705.3:c.2392G>C	13.37:g.38211582C>G	ENSP00000369027:p.Asp798His					TRPC4_ENST00000447043.1_Intron|TRPC4_ENST00000379681.3_Missense_Mutation_p.D803H|TRPC4_ENST00000355779.2_Intron|TRPC4_ENST00000358477.2_Intron|TRPC4_ENST00000379679.1_Missense_Mutation_p.D625H|TRPC4_ENST00000426868.2_Intron|TRPC4_ENST00000338947.5_Missense_Mutation_p.D625H|TRPC4_ENST00000379673.2_Intron	p.D798H			Q9UBN4	TRPC4_HUMAN		all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)	11	3249	-			798			Binds to ITPR1, ITPR2 and ITPR3.		B1ALE0|B1ALE1|B1ALE2|Q15721|Q3SWS6|Q96P03|Q96P04|Q96P05|Q9UIB0|Q9UIB1|Q9UIB2	Missense_Mutation	SNP	ENST00000379705.3	37	c.2392G>C	CCDS9365.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.104096	0.76983	.	.	ENSG00000133107	ENST00000379705;ENST00000379681;ENST00000338947;ENST00000379679	T;T;T;T	0.66815	-0.23;-0.23;-0.03;-0.03	5.9	5.9	0.94986	.	0.205916	0.37577	N	0.002029	T	0.76716	0.4026	L	0.36672	1.1	0.80722	D	1	D;D;D	0.89917	1.0;0.999;0.981	D;D;P	0.85130	0.997;0.964;0.781	T	0.74197	-0.3743	10	0.41790	T	0.15	-33.1888	20.2821	0.98520	0.0:1.0:0.0:0.0	.	803;625;798	Q9UBN4-5;Q9UBN4-6;Q9UBN4	.;.;TRPC4_HUMAN	H	798;803;625;625	ENSP00000369027:D798H;ENSP00000369003:D803H;ENSP00000342580:D625H;ENSP00000369001:D625H	ENSP00000342580:D625H	D	-	1	0	TRPC4	37109582	1.000000	0.71417	0.965000	0.40720	0.991000	0.79684	3.605000	0.54088	2.786000	0.95864	0.563000	0.77884	GAT		0.463	TRPC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044574.2	NM_003306		22	50	0	0	0	1	0	22	50					G	38211582	C	G	38211582	3	3	120	1	0	0	0	0	1	0	0	0	16577	826	29	5	545	5	TRPC4	13	38211582	Missense_Mutation	SNP	C	TCGA-EJ-A65E-01A-11D-A29Q-08	4985552	38211582	76958296	33	6323											
RBM25	58517	broad.mit.edu	37	chr14	73581030	73581030	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	caccccagagcattttagatGatgttgccatggtaagttag	11	12	10	8	0	0	3	0	1	0	2	0	3	0	3	3	1	2	4	3	1	3	5			TCGA-EJ-A65E-01A-11D-A29Q-08	TCGA-EJ-A65E-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	914ddd96-a9b1-469b-8114-ed57c1184729	dcb67253-4e94-409e-a5cf-5a86196c1877	g.chr14:73581030G>A	ENST00000261973.7	+	18	2713	c.2428G>A	c.(2428-2430)Gat>Aat	p.D810N	RBM25_ENST00000532483.1_3'UTR|RBM25_ENST00000527432.1_Missense_Mutation_p.D810N	NM_021239.2	NP_067062.1	P49756	RBM25_HUMAN	RNA binding motif protein 25	810	PWI. {ECO:0000255|PROSITE- ProRule:PRU00627}.				mRNA processing (GO:0006397)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of apoptotic process (GO:0042981)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(6)|ovary(2)|pancreas(1)	31				BRCA - Breast invasive adenocarcinoma(234;0.00362)|OV - Ovarian serous cystadenocarcinoma(108;0.0688)		CATTTTAGATGATGTTGCCAT	0.259																																						ENST00000261973.7																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(6)|ovary(2)|pancreas(1)	31						c.(2428-2430)Gat>Aat		RNA binding motif protein 25							81	87	85					14																	73581030		2203	4299	6502	SO:0001583	missense	58517				apoptosis|mRNA processing|regulation of alternative nuclear mRNA splicing, via spliceosome|RNA splicing	cytoplasm|nuclear speck	mRNA binding|nucleotide binding|protein binding	g.chr14:73581030G>A	BX647116	CCDS32113.1	14q24.3	2013-02-12	2004-04-23	2004-04-29	ENSG00000119707	ENSG00000119707		"RNA binding motif (RRM) containing"	23244	protein-coding gene	gene with protein product	"functional spliceosome-associated protein 94"	612427	"RNA-binding region (RNP1, RRM) containing 7"	RNPC7		9847074, 7596406	Standard	NM_021239		Approved	S164, fSAP94, NET52, Snu71	uc001xno.3	P49756	OTTHUMG00000167540	ENST00000261973.7:c.2428G>A	14.37:g.73581030G>A	ENSP00000261973:p.Asp810Asn					RBM25_ENST00000527432.1_Missense_Mutation_p.D810N|RBM25_ENST00000532483.1_3'UTR	p.D810N	NM_021239.2	NP_067062.1	P49756	RBM25_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00362)|OV - Ovarian serous cystadenocarcinoma(108;0.0688)	18	2713	+			810			PWI.		A0PJL9|B2RNA8|B3KT03|Q2TA72|Q5XJ17|Q6P665|Q9H6A1|Q9UEQ5|Q9UIE9	Missense_Mutation	SNP	ENST00000261973.7	37	c.2428G>A	CCDS32113.1	.	.	.	.	.	.	.	.	.	.	G	36	5.614006	0.96637	.	.	ENSG00000119707	ENST00000261973;ENST00000527432	T;T	0.38240	1.15;1.15	6.03	6.03	0.97812	Splicing factor PWI (5);	0.041315	0.85682	D	0.000000	T	0.58104	0.2099	L	0.53561	1.675	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.44406	-0.9330	10	0.33141	T	0.24	.	20.5596	0.99324	0.0:0.0:1.0:0.0	.	810	P49756	RBM25_HUMAN	N	810	ENSP00000261973:D810N;ENSP00000431150:D810N	ENSP00000261973:D810N	D	+	1	0	RBM25	72650783	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	9.624000	0.98398	2.868000	0.98415	0.555000	0.69702	GAT		0.259	RBM25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394966.1	XM_027330		19	50	0	0	0	1	0	19	50					A	73581030	G	A	73581030	3	1	120	1	0	0	0	0	1	0	0	0	13125	1290	45	3	2494	3	RBM25	14	73581030	Missense_Mutation	SNP	G	TCGA-EJ-A65E-01A-11D-A29Q-08		73581030	33768510	34	6324											
FBN1	2200	broad.mit.edu	37	chr15	48777609	48777609	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caggcattagtgcaaatcccGgctgacagctacattcatag	12	9	9	11	1	1	1	1	1	0	0	2	1	2	1	1	2	3	4	1	2	4	4			TCGA-EJ-A65E-01A-11D-A29Q-08	TCGA-EJ-A65E-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	914ddd96-a9b1-469b-8114-ed57c1184729	dcb67253-4e94-409e-a5cf-5a86196c1877	g.chr15:48777609G>A	ENST00000316623.5	-	30	4129	c.3674C>T	c.(3673-3675)cCg>cTg	p.P1225L		NM_000138.4	NP_000129	P35555	FBN1_HUMAN	fibrillin 1	1225	EGF-like 19; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|kidney development (GO:0001822)|sequestering of BMP in extracellular matrix (GO:0035582)|sequestering of TGFbeta in extracellular matrix (GO:0035583)|skeletal system development (GO:0001501)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		TGCAAATCCCGGCTGACAGCT	0.428																																						ENST00000316623.5																			0				NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139						c.(3673-3675)cCg>cTg		fibrillin 1							121	108	112					15																	48777609		2198	4296	6494	SO:0001583	missense	2200				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding	g.chr15:48777609G>A	X63556	CCDS32232.1	15q21.1	2014-09-17	2006-04-25			ENSG00000166147			3603	protein-coding gene	gene with protein product	"Marfan syndrome"	134797	"fibrillin 1 (Marfan syndrome)"	FBN, MFS1, WMS		10036187, 12525539	Standard	NM_000138		Approved	MASS, OCTD, SGS	uc001zwx.2	P35555		ENST00000316623.5:c.3674C>T	15.37:g.48777609G>A	ENSP00000325527:p.Pro1225Leu						p.P1225L	NM_000138.4	NP_000129.3	P35555	FBN1_HUMAN		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)	30	4129	-		all_lung(180;0.00279)	1225			EGF-like 19; calcium-binding.		B2RUU0|D2JYH6|Q15972|Q75N87	Missense_Mutation	SNP	ENST00000316623.5	37	c.3674C>T	CCDS32232.1	.	.	.	.	.	.	.	.	.	.	G	15.73	2.918801	0.52546	.	.	ENSG00000166147	ENST00000316623	D	0.96685	-4.09	6.05	4.01	0.46588	EGF-like region, conserved site (1);EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	0.445553	0.28671	N	0.014534	D	0.93419	0.7901	L	0.52266	1.64	0.80722	D	1	B	0.20671	0.047	B	0.14023	0.01	D	0.90756	0.4661	10	0.30078	T	0.28	.	12.3321	0.55046	0.0:0.0:0.4537:0.5463	.	1225	P35555	FBN1_HUMAN	L	1225	ENSP00000325527:P1225L	ENSP00000325527:P1225L	P	-	2	0	FBN1	46564901	0.012000	0.17670	0.991000	0.47740	0.992000	0.81027	0.795000	0.26972	1.518000	0.48934	0.650000	0.86243	CCG		0.428	FBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417355.1			15	55	0	0	0	1	0	15	55					A	48777609	G	A	48777609	3	1	120	1	0	0	0	0	1	0	0	0	5702	1116	39	2	5089	2	FBN1	15	48777609	Missense_Mutation	SNP	G	TCGA-EJ-A65E-01A-11D-A29Q-08		48777609	53753783	35	6325											
LOC100132247	100132247	broad.mit.edu	37	chr16	22545744	22545755	+	In_Frame_Del	DEL	TCCACCCTCAGC	TCCACCCTCAGC	-																															gagcgtcagctcactcccctTccaccctcagctccaccctc																								rs373344256		TCGA-EJ-A65E-01A-11D-A29Q-08	TCGA-EJ-A65E-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	914ddd96-a9b1-469b-8114-ed57c1184729	dcb67253-4e94-409e-a5cf-5a86196c1877	g.chr16:22545744_22545755delTCCACCCTCAGC	ENST00000517539.1	+	8	1515_1526	c.1440_1451delTCCACCCTCAGC	c.(1438-1452)cttccaccctcagct>ctt	p.PPSA485del	NPIPB5_ENST00000424340.1_In_Frame_Del_p.PPSA485del|NPIPB5_ENST00000415654.1_3'UTR			A8MRT5	NPIB5_HUMAN	nuclear pore complex interacting protein family, member B5	485	Pro-rich.					integral component of membrane (GO:0016021)											TCACTCCCCTTCCACCCTCAGCTCCACCCTCA	0.571																																						ENST00000424340.1																			0											c.(1438-1452)ctt>ct		nuclear pore complex interacting protein family, member B5				15,1619		1,13,803							0			1	14,2538		3,8,1265	no	coding	LOC100132247	NM_001135865.1		4,21,2068	A1A1,A1R,RR		0.5486,0.918,0.6928				29,4157				SO:0001651	inframe_deletion	100132247							g.chr16:22545744_22545755delTCCACCCTCAGC		CCDS45443.1	16p12.2	2013-06-11			ENSG00000243716	ENSG00000243716			37233	protein-coding gene	gene with protein product							Standard	NM_001135865		Approved			A8MRT5	OTTHUMG00000163573	ENST00000517539.1:c.1440_1451delTCCACCCTCAGC	16.37:g.22545744_22545755delTCCACCCTCAGC	ENSP00000430633:p.Pro485_Ala488del					NPIPB5_ENST00000517539.1_In_Frame_Del_p.LPPSA480del|NPIPB5_ENST00000415654.1_3'UTR	p.LPPSA480del	NM_001135865.1	NP_001129337.1					7	1719_1730	+								B4DK13	In_Frame_Del	DEL	ENST00000517539.1	37	c.1440_1451delTCCACCCTCAGC	CCDS45443.1																																																																																				0.571	NPIPB5-002	NOVEL	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374343.2	NM_001135865		59	47						59	47	---	---	---	---	-	22545755	TCCACCCTCAGC	-	22545744	7	5	120	1	0	1	0	1	0	0	0	0	8868	1770	62	0	1466	0	LOC100132247	16	22545744	In_Frame_Del	DEL	TCCACCCTCAGC	TCGA-EJ-A65E-01A-11D-A29Q-08		22545744	67809009	36	6326											
HEATR3	55027	broad.mit.edu	37	chr16	50136206	50136206	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcttgaagttaccaccaaaGatccttcccttgtggtagca	10	12	8	11	0	0	2	0	1	0	1	2	2	2	2	4	1	3	4	4	1	4	5			TCGA-EJ-A65E-01A-11D-A29Q-08	TCGA-EJ-A65E-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	914ddd96-a9b1-469b-8114-ed57c1184729	dcb67253-4e94-409e-a5cf-5a86196c1877	g.chr16:50136206G>T	ENST00000299192.7	+	14	1971	c.1780G>T	c.(1780-1782)Gat>Tat	p.D594Y	RP11-429P3.5_ENST00000566770.1_RNA|HEATR3_ENST00000285767.4_Missense_Mutation_p.D508Y	NM_182922.2	NP_891552.1	Q7Z4Q2	HEAT3_HUMAN	HEAT repeat containing 3	594										cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	28						TACCACCAAAGATCCTTCCCT	0.398																																						ENST00000299192.7																			0				cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	28						c.(1780-1782)Gat>Tat		HEAT repeat containing 3							203	177	186					16																	50136206		2198	4300	6498	SO:0001583	missense	55027						binding	g.chr16:50136206G>T	BC018730	CCDS10739.1	16q12.1	2008-02-05			ENSG00000155393	ENSG00000155393			26087	protein-coding gene	gene with protein product		614951				12477932	Standard	XM_005256013		Approved	FLJ20718	uc002efw.3	Q7Z4Q2	OTTHUMG00000133174	ENST00000299192.7:c.1780G>T	16.37:g.50136206G>T	ENSP00000299192:p.Asp594Tyr					HEATR3_ENST00000285767.4_Missense_Mutation_p.D508Y|RP11-429P3.5_ENST00000566770.1_RNA	p.D594Y	NM_182922.2	NP_891552.1	Q7Z4Q2	HEAT3_HUMAN			14	1971	+			594					A8K1N4|Q8N525|Q8WV56|Q96CC9|Q9NWN7	Missense_Mutation	SNP	ENST00000299192.7	37	c.1780G>T	CCDS10739.1	.	.	.	.	.	.	.	.	.	.	G	25.7	4.670111	0.88348	.	.	ENSG00000155393	ENST00000285767;ENST00000299192	T;T	0.71103	-0.54;-0.54	5.49	5.49	0.81192	Armadillo-type fold (1);	0.089559	0.85682	D	0.000000	D	0.83096	0.5180	M	0.62723	1.935	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.72625	0.919;0.978	D	0.83837	0.0255	10	0.72032	D	0.01	.	19.7382	0.96215	0.0:0.0:1.0:0.0	.	508;594	B7WNW7;Q7Z4Q2	.;HEAT3_HUMAN	Y	508;594	ENSP00000285767:D508Y;ENSP00000299192:D594Y	ENSP00000285767:D508Y	D	+	1	0	HEATR3	48693707	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.834000	0.75339	2.744000	0.94065	0.650000	0.86243	GAT		0.398	HEATR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256880.2	NM_182922		32	79	1	0	1.74807e-11	1	1.90698e-11	32	79					T	50136206	G	T	50136206	3	4	120	1	0	0	0	0	1	0	0	0	7029	942	33	5	1834	5	HEATR3	16	50136206	Missense_Mutation	SNP	G	TCGA-EJ-A65E-01A-11D-A29Q-08	27590462	50136206	40218547	37	6327											
C16orf7	9605	broad.mit.edu	37	chr16	89777078	89777078	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cccacggccccggccctgccGctcagacgtccccaggaact	6	4	10	21	4	1	1	1	0	0	1	2	2	2	2	7	3	2	1	7	3	1	0	rs56288641	byFrequency	TCGA-EJ-A65E-01A-11D-A29Q-08	TCGA-EJ-A65E-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	914ddd96-a9b1-469b-8114-ed57c1184729	dcb67253-4e94-409e-a5cf-5a86196c1877	g.chr16:89777078G>A	ENST00000389386.3	-	10	1298	c.1174C>T	c.(1174-1176)Cgg>Tgg	p.R392W	VPS9D1-AS1_ENST00000562866.1_RNA|VPS9D1_ENST00000565452.1_5'Flank|VPS9D1_ENST00000561976.1_Missense_Mutation_p.R322W	NM_004913.2	NP_004904.2	Q9Y2B5	VP9D1_HUMAN	VPS9 domain containing 1	392				R -> P (in Ref. 1; BAA76711). {ECO:0000305}.	ATP synthesis coupled proton transport (GO:0015986)		GTPase activator activity (GO:0005096)|transporter activity (GO:0005215)										CGGCCCTGCCGCTCAGACGTC	0.682													G|||	34	0.00678914	0.0159	0.0072	5008	,	,		11869	0		0.007	False		,,,				2504	0.001					ENST00000561976.1																			0											c.(964-966)Cgg>Tgg		VPS9 domain containing 1		G	TRP/ARG	74,3894		0,74,1910	12	15	14		1174	0.1	1	16	dbSNP_129	14	164,8116		0,164,3976	yes	missense	C16orf7	NM_004913.2	101	0,238,5886	AA,AG,GG		1.9807,1.8649,1.9432	possibly-damaging	392/632	89777078	238,12010	1984	4140	6124	SO:0001583	missense	9605							g.chr16:89777078G>A	AB018551	CCDS42220.1	16q24.3	2012-10-09	2012-10-09	2012-10-09	ENSG00000075399	ENSG00000075399			13526	protein-coding gene	gene with protein product			"chromosome 16 open reading frame 7"	C16orf7		10231027	Standard	NM_004913		Approved	ATP-BL	uc002fom.1	Q9Y2B5	OTTHUMG00000173219	ENST00000389386.3:c.1174C>T	16.37:g.89777078G>A	ENSP00000374037:p.Arg392Trp					VPS9D1_ENST00000389386.3_Missense_Mutation_p.R392W	p.R322W							9	1341	-									Missense_Mutation	SNP	ENST00000389386.3	37	c.964C>T	CCDS42220.1	19	0.0086996336996337	12	0.024390243902439025	2	0.0055248618784530384	0	0.0	5	0.006596306068601583	G	9.490	1.100345	0.20552	0.018649	0.019807	ENSG00000075399	ENST00000389386	.	.	.	3.79	0.127	0.14727	.	1.278920	0.04806	N	0.434471	T	0.08758	0.0217	N	0.08118	0	0.18873	N	0.999982	B	0.09022	0.002	B	0.01281	0.0	T	0.14896	-1.0456	9	0.37606	T	0.19	-20.542	1.8401	0.03148	0.1596:0.0992:0.1728:0.5684	rs56288641	392	Q9Y2B5	CP007_HUMAN	W	392	.	ENSP00000374037:R392W	R	-	1	2	C16orf7	88304579	0.048000	0.20356	0.983000	0.44433	0.029000	0.11900	-0.091000	0.11146	-0.218000	0.10018	-1.334000	0.01262	CGG		0.682	VPS9D1-002	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422508.1	NM_004913		3	26	0	0	0	1	0	3	26					A	89777078	G	A	89777078	3	1	120	1	0	0	0	0	1	0	0	0	1828	1086	38	1	745	1	C16orf7	16	89777078	Missense_Mutation	SNP	G	TCGA-EJ-A65E-01A-11D-A29Q-08	39640872	89777078	577675	38	6328											
NUFIP2	57532	broad.mit.edu	37	chr17	27614574	27614574	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttcttggttttaattcctgcTttcccaaaggtgttggcctt	5	19	8	9	0	1	0	0	0	1	0	3	0	3	0	3	3	1	3	3	3	2	8			TCGA-EJ-A65E-01A-11D-A29Q-08	TCGA-EJ-A65E-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	914ddd96-a9b1-469b-8114-ed57c1184729	dcb67253-4e94-409e-a5cf-5a86196c1877	g.chr17:27614574T>A	ENST00000225388.4	-	2	496	c.438A>T	c.(436-438)aaA>aaT	p.K146N	NUFIP2_ENST00000579665.1_Intron	NM_020772.2	NP_065823.1	Q7Z417	NUFP2_HUMAN	nuclear fragile X mental retardation protein interacting protein 2	146						cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)|polysomal ribosome (GO:0042788)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1)	24			BRCA - Breast invasive adenocarcinoma(11;0.000457)|Colorectal(6;0.0178)|COAD - Colon adenocarcinoma(6;0.0551)			TAATTCCTGCTTTCCCAAAGG	0.408																																						ENST00000225388.4																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1)	24						c.(436-438)aaA>aaT		nuclear fragile X mental retardation protein interacting protein 2							123	121	122					17																	27614574		2203	4300	6503	SO:0001583	missense	57532					nucleus|polysomal ribosome	protein binding|RNA binding	g.chr17:27614574T>A	AB037742	CCDS32600.1	17q11.1	2006-03-01				ENSG00000108256			17634	protein-coding gene	gene with protein product		609356				12837692, 16407062	Standard	NM_020772		Approved	KIAA1321, MGC117262, PIG1, 182-FIP, FIP-82, 82-FIP	uc002hdy.4	Q7Z417		ENST00000225388.4:c.438A>T	17.37:g.27614574T>A	ENSP00000225388:p.Lys146Asn					NUFIP2_ENST00000579665.1_Intron	p.K146N	NM_020772.2	NP_065823.1	Q7Z417	NUFP2_HUMAN	BRCA - Breast invasive adenocarcinoma(11;0.000457)|Colorectal(6;0.0178)|COAD - Colon adenocarcinoma(6;0.0551)		2	496	-			146					A1L3A6|Q9P2M5	Missense_Mutation	SNP	ENST00000225388.4	37	c.438A>T	CCDS32600.1	.	.	.	.	.	.	.	.	.	.	T	13.76	2.333463	0.41297	.	.	ENSG00000108256	ENST00000225388	.	.	.	6.17	1.56	0.23342	.	0.059210	0.64402	D	0.000002	T	0.43634	0.1256	L	0.29908	0.895	0.80722	D	1	B	0.25609	0.13	B	0.29524	0.103	T	0.23655	-1.0182	9	0.51188	T	0.08	-3.7702	9.6708	0.40011	0.0:0.2556:0.0:0.7444	.	146	Q7Z417	NUFP2_HUMAN	N	146	.	ENSP00000225388:K146N	K	-	3	2	NUFIP2	24638700	1.000000	0.71417	0.993000	0.49108	0.986000	0.74619	1.948000	0.40303	-0.015000	0.14150	0.533000	0.62120	AAA		0.408	NUFIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447015.2	NM_020772		14	78	0	0	0	1	0	14	78					A	27614574	T	A	27614574	3	1	120	1	0	0	0	0	1	0	0	0	10749	1606	56	5	1661	5	NUFIP2	17	27614574	Missense_Mutation	SNP	T	TCGA-EJ-A65E-01A-11D-A29Q-08		27614574	53580636	39	6329											
SPOP	8405	broad.mit.edu	37	chr17	47696644	47696644	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	attcaggatggagaatttgaAttttgcccgaacttcactct	11	14	8	8	1	3	2	2	1	1	1	3	5	3	3	1	2	2	0	1	2	3	5			TCGA-EJ-A65E-01A-11D-A29Q-08	TCGA-EJ-A65E-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	914ddd96-a9b1-469b-8114-ed57c1184729	dcb67253-4e94-409e-a5cf-5a86196c1877	g.chr17:47696644A>C	ENST00000393328.2	-	5	669	c.304T>G	c.(304-306)Ttc>Gtc	p.F102V	SPOP_ENST00000513080.1_5'Flank|SPOP_ENST00000504102.1_Missense_Mutation_p.F102V|SPOP_ENST00000347630.2_Missense_Mutation_p.F102V|SPOP_ENST00000503676.1_Missense_Mutation_p.F102V|SPOP_ENST00000393331.3_Missense_Mutation_p.F102V	NM_003563.3	NP_003554.1	O43791	SPOP_HUMAN	speckle-type POZ protein	102	MATH. {ECO:0000255|PROSITE- ProRule:PRU00129}.|Required for nuclear localization.				glucose homeostasis (GO:0042593)|positive regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902237)|positive regulation of type B pancreatic cell apoptotic process (GO:2000676)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	Cul3-RING ubiquitin ligase complex (GO:0031463)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	ubiquitin protein ligase binding (GO:0031625)			endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						GAGAATTTGAATTTTGCCCGA	0.408										Prostate(2;0.17)																												ENST00000393331.3																			0				endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						c.(304-306)Ttc>Gtc		speckle-type POZ protein							147	136	140					17																	47696644		2203	4300	6503	SO:0001583	missense	8405				mRNA processing	nucleus	protein binding	g.chr17:47696644A>C	AJ000644	CCDS11551.1	17q21.33	2013-01-09			ENSG00000121067	ENSG00000121067		"BTB/POZ domain containing"	11254	protein-coding gene	gene with protein product		602650				9414087	Standard	NM_001007227		Approved	TEF2, BTBD32	uc002ipg.3	O43791	OTTHUMG00000161496	ENST00000393328.2:c.304T>G	17.37:g.47696644A>C	ENSP00000377001:p.Phe102Val	Prostate(2;0.17)				SPOP_ENST00000503676.1_Missense_Mutation_p.F102V|SPOP_ENST00000393328.2_Missense_Mutation_p.F102V|SPOP_ENST00000347630.2_Missense_Mutation_p.F102V|SPOP_ENST00000504102.1_Missense_Mutation_p.F102V	p.F102V	NM_001007226.1|NM_001007227.1	NP_001007227.1|NP_001007228.1	O43791	SPOP_HUMAN			6	774	-			102			MATH.|Required for nuclear localization.		B2R6S3|D3DTW7|Q53HJ1	Missense_Mutation	SNP	ENST00000393328.2	37	c.304T>G	CCDS11551.1	.	.	.	.	.	.	.	.	.	.	A	23.9	4.465429	0.84425	.	.	ENSG00000121067	ENST00000393328;ENST00000393331;ENST00000347630;ENST00000504102;ENST00000503676;ENST00000513872;ENST00000509079;ENST00000505581;ENST00000507970;ENST00000514121;ENST00000515508	T;T;T;T;T;T;T;T;T;T	0.66815	-0.23;-0.23;-0.23;-0.23;-0.23;-0.23;-0.23;-0.23;-0.23;-0.23	5.52	5.52	0.82312	TRAF-type (1);TRAF-like (1);MATH (3);	0.000000	0.85682	D	0.000000	T	0.77046	0.4073	L	0.48986	1.54	0.80722	D	1	D	0.76494	0.999	D	0.78314	0.991	T	0.75869	-0.3165	10	0.39692	T	0.17	-11.8278	15.4649	0.75390	1.0:0.0:0.0:0.0	.	102	O43791	SPOP_HUMAN	V	102;102;102;102;102;55;102;102;102;102;102	ENSP00000377001:F102V;ENSP00000377004:F102V;ENSP00000240327:F102V;ENSP00000425905:F102V;ENSP00000420908:F102V;ENSP00000426986:F102V;ENSP00000420960:F102V;ENSP00000426262:F102V;ENSP00000424119:F102V;ENSP00000426537:F102V	ENSP00000240327:F102V	F	-	1	0	SPOP	45051643	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.135000	0.94478	2.317000	0.78254	0.460000	0.39030	TTC		0.408	SPOP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365154.2	NM_003563		24	46	0	0	0	1	0	24	46					C	47696644	A	C	47696644	3	2	120	1	0	0	0	0	1	0	0	0	15083	101	4	5	848	5	SPOP	17	47696644	Missense_Mutation	SNP	A	TCGA-EJ-A65E-01A-11D-A29Q-08	20082070	47696644	33498566	40	6330											
DSG1	1828	broad.mit.edu	37	chr18	28934953	28934953	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gagtaatccaaccaacttccGgcatgataggtagtctgagt	12	10	10	9	1	1	2	0	2	1	0	3	3	3	2	3	2	2	3	3	2	5	4	rs370600690		TCGA-EJ-A65E-01A-11D-A29Q-08	TCGA-EJ-A65E-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	914ddd96-a9b1-469b-8114-ed57c1184729	dcb67253-4e94-409e-a5cf-5a86196c1877	g.chr18:28934953G>A	ENST00000257192.4	+	15	3006	c.2794G>A	c.(2794-2796)Ggc>Agc	p.G932S	RP11-534N16.1_ENST00000578477.1_RNA|RP11-534N16.1_ENST00000578119.1_RNA|RP11-534N16.1_ENST00000581452.1_RNA|DSG1_ENST00000462981.2_Missense_Mutation_p.G291S|RP11-534N16.1_ENST00000581856.1_RNA	NM_001942.2	NP_001933.2	Q02413	DSG1_HUMAN	desmoglein 1	932					apoptotic process (GO:0006915)|calcium-dependent cell-cell adhesion (GO:0016339)|cell-cell junction assembly (GO:0007043)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|homophilic cell adhesion (GO:0007156)|maternal process involved in female pregnancy (GO:0060135)|protein stabilization (GO:0050821)|response to progesterone (GO:0032570)|single organismal cell-cell adhesion (GO:0016337)	apical plasma membrane (GO:0016324)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|gamma-catenin binding (GO:0045295)|toxic substance binding (GO:0015643)			NS(2)|central_nervous_system(2)|endometrium(5)|kidney(7)|large_intestine(11)|lung(36)|ovary(3)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	76			OV - Ovarian serous cystadenocarcinoma(10;0.00559)			ACCAACTTCCGGCATGATAGG	0.468													G|||	1	0.000199681	8e-04	0	5008	,	,		23800	0		0	False		,,,				2504	0					ENST00000257192.4																			0				NS(2)|central_nervous_system(2)|endometrium(5)|kidney(7)|large_intestine(11)|lung(36)|ovary(3)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	76						c.(2794-2796)Ggc>Agc		desmoglein 1		G	SER/GLY	2,4404	4.2+/-10.8	0,2,2201	232	224	227		2794	6.2	1	18		227	0,8600		0,0,4300	no	missense	DSG1	NM_001942.2	56	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	probably-damaging	932/1050	28934953	2,13004	2203	4300	6503	SO:0001583	missense	1828				calcium-dependent cell-cell adhesion|cell-cell junction assembly|cellular component disassembly involved in apoptosis|homophilic cell adhesion|protein stabilization	cytosol|desmosome|integral to membrane|internal side of plasma membrane	calcium ion binding|gamma-catenin binding|toxin binding	g.chr18:28934953G>A	X56654	CCDS11896.1	18q12.1	2014-05-13			ENSG00000134760	ENSG00000134760		"Cadherins / Major cadherins"	3048	protein-coding gene	gene with protein product		125670		DSG		1889810	Standard	NM_001942		Approved	CDHF4	uc002kwp.3	Q02413	OTTHUMG00000131983	ENST00000257192.4:c.2794G>A	18.37:g.28934953G>A	ENSP00000257192:p.Gly932Ser					DSG1_ENST00000462981.2_Missense_Mutation_p.G291S|RP11-534N16.1_ENST00000581856.1_RNA|RP11-534N16.1_ENST00000581452.1_RNA|RP11-534N16.1_ENST00000578477.1_RNA	p.G932S	NM_001942.2	NP_001933.2	Q02413	DSG1_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.00559)		15	3006	+			932					B7Z845	Missense_Mutation	SNP	ENST00000257192.4	37	c.2794G>A	CCDS11896.1	.	.	.	.	.	.	.	.	.	.	G	12.43	1.934558	0.34189	4.54E-4	0.0	ENSG00000134760	ENST00000257192	T	0.79940	-1.32	6.17	6.17	0.99709	.	0.000000	0.64402	D	0.000001	D	0.84982	0.5593	M	0.63428	1.95	0.37871	D	0.930073	D	0.76494	0.999	P	0.59171	0.853	D	0.85921	0.1446	10	0.48119	T	0.1	.	11.0573	0.47927	0.1365:0.0:0.8635:0.0	.	932	Q02413	DSG1_HUMAN	S	932	ENSP00000257192:G932S	ENSP00000257192:G932S	G	+	1	0	DSG1	27188951	0.997000	0.39634	1.000000	0.80357	0.827000	0.46813	2.515000	0.45512	2.941000	0.99782	0.655000	0.94253	GGC		0.468	DSG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254947.1	NM_001942		65	165	0	0	0	1	0	65	165					A	28934953	G	A	28934953	3	1	120	1	0	0	0	0	1	0	0	0	4776	1116	39	2	2852	2	DSG1	18	28934953	Missense_Mutation	SNP	G	TCGA-EJ-A65E-01A-11D-A29Q-08		28934953	49142295	41	6331											
PPFIA3	8541	broad.mit.edu	37	chr19	49653359	49653359	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cagacttctgggagttcccgGgcagacggcgtttcggtccg	5	9	15	12	5	1	2	0	0	1	2	4	3	3	3	2	4	0	3	2	4	0	3			TCGA-EJ-A65E-01A-11D-A29Q-08	TCGA-EJ-A65E-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	914ddd96-a9b1-469b-8114-ed57c1184729	dcb67253-4e94-409e-a5cf-5a86196c1877	g.chr19:49653359G>C	ENST00000334186.4	+	29	3898	c.3549G>C	c.(3547-3549)cgG>cgC	p.R1183R	PPFIA3_ENST00000602351.1_Silent_p.R1174R	NM_003660.2	NP_003651.1	O75145	LIPA3_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 3	1183					cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|presynaptic active zone (GO:0048786)				NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(16)|pancreas(1)|prostate(1)|skin(4)|urinary_tract(1)	35		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.36e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000203)|GBM - Glioblastoma multiforme(486;0.00307)|Epithelial(262;0.00677)		GGAGTTCCCGGGCAGACGGCG	0.652																																						ENST00000334186.4																			0				NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(16)|pancreas(1)|prostate(1)|skin(4)|urinary_tract(1)	35						c.(3547-3549)cgG>cgC		protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 3							53	45	48					19																	49653359		2203	4300	6503	SO:0001819	synonymous_variant	8541					cell surface|cytoplasm	protein binding	g.chr19:49653359G>C	AF034800	CCDS12758.1	19q13.33	2013-09-23			ENSG00000177380	ENSG00000177380		"Sterile alpha motif (SAM) domain containing"	9247	protein-coding gene	gene with protein product	"protein tyrosine phosphatase, receptor type, f polypeptide, alpha 3", "liprin-alpha 3", "liprin"	603144				9624153, 9734811	Standard	NM_003660		Approved	KIAA0654, LPNA3, MGC126567, MGC126569	uc002pmr.3	O75145	OTTHUMG00000183213	ENST00000334186.4:c.3549G>C	19.37:g.49653359G>C						PPFIA3_ENST00000602351.1_Silent_p.R1174R	p.R1183R	NM_003660.2	NP_003651.1	O75145	LIPA3_HUMAN		all cancers(93;2.36e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000203)|GBM - Glioblastoma multiforme(486;0.00307)|Epithelial(262;0.00677)	29	3898	+		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)	1183					A8K142|Q3MJA0|Q9H8B5|Q9UEW4	Silent	SNP	ENST00000334186.4	37	c.3549G>C	CCDS12758.1																																																																																				0.652	PPFIA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465688.1	NM_003660		4	17	0	0	0	1	0	4	17					C	49653359	G	C	49653359	2	2	120	1	0	0	0	0	0	0	0	1	12311	1219	43	5		5	PPFIA3	19	49653359	Silent	SNP	G	TCGA-EJ-A65E-01A-11D-A29Q-08		49653359	9475624	42	6332											
RASSF2	9770	broad.mit.edu	37	chr20	4771182	4771182	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgtcctcacattgccacggCgacgcaccccaacatcactg	9	6	8	18	4	2	0	2	0	0	0	3	1	3	0	4	1	2	1	4	1	1	1	rs145831009	byFrequency	TCGA-EJ-A65E-01A-11D-A29Q-08	TCGA-EJ-A65E-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	914ddd96-a9b1-469b-8114-ed57c1184729	dcb67253-4e94-409e-a5cf-5a86196c1877	g.chr20:4771182C>T	ENST00000379400.3	-	7	647	c.452G>A	c.(451-453)cGc>cAc	p.R151H	RASSF2_ENST00000379376.2_Missense_Mutation_p.R151H|RASSF2_ENST00000478553.1_5'UTR	NM_014737.2	NP_055552.1	P50749	RASF2_HUMAN	Ras association (RalGDS/AF-6) domain family member 2	151					bone remodeling (GO:0046849)|cell cycle (GO:0007049)|epidermal growth factor receptor signaling pathway via I-kappaB kinase/NF-kappaB cascade (GO:0038168)|homeostasis of number of cells (GO:0048872)|negative regulation of NIK/NF-kappaB signaling (GO:1901223)|ossification (GO:0001503)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoclast differentiation (GO:0045670)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(3)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|pancreas(2)|prostate(2)|skin(2)	34						ATTGCCACGGCGACGCACCCC	0.592													C|||	3	0.000599042	0.0015	0	5008	,	,		16758	0		0	False		,,,				2504	0.001				Melanoma(158;1891 3343 50738)	ENST00000379400.3																			0				endometrium(3)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|pancreas(2)|prostate(2)|skin(2)	34						c.(451-453)cGc>cAc		Ras association (RalGDS/AF-6) domain family member 2		C	HIS/ARG,HIS/ARG	15,4391	22.3+/-47.3	0,15,2188	105	78	87		452,452	5.2	1	20	dbSNP_134	87	0,8600		0,0,4300	yes	missense,missense	RASSF2	NM_014737.2,NM_170774.1	29,29	0,15,6488	TT,TC,CC		0.0,0.3404,0.1153	probably-damaging,probably-damaging	151/327,151/327	4771182	15,12991	2203	4300	6503	SO:0001583	missense	9770				cell cycle|signal transduction	nucleus	protein binding	g.chr20:4771182C>T	D79990	CCDS13083.1	20p13	2011-08-12	2008-02-22		ENSG00000101265	ENSG00000101265			9883	protein-coding gene	gene with protein product	"centromere protein 34"	609492				8724849, 15806169	Standard	NM_014737		Approved	KIAA0168, CENP-34	uc002wld.3	P50749	OTTHUMG00000031790	ENST00000379400.3:c.452G>A	20.37:g.4771182C>T	ENSP00000368710:p.Arg151His					RASSF2_ENST00000478553.1_5'UTR|RASSF2_ENST00000379376.2_Missense_Mutation_p.R151H	p.R151H	NM_014737.2	NP_055552.1	P50749	RASF2_HUMAN			7	647	-			151					A6NIX9|A8K5Z3|Q17S06|Q53HD0|Q6AHZ2|Q8IZA5	Missense_Mutation	SNP	ENST00000379400.3	37	c.452G>A	CCDS13083.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	31	5.060133	0.93846	0.003404	0.0	ENSG00000101265	ENST00000379400;ENST00000379376	T;T	0.16597	2.33;2.33	5.2	5.2	0.72013	.	0.000000	0.85682	D	0.000000	T	0.47303	0.1438	M	0.85041	2.73	0.80722	D	1	D	0.89917	1.0	D	0.70716	0.97	T	0.52117	-0.8618	10	0.72032	D	0.01	.	17.4783	0.87667	0.0:1.0:0.0:0.0	.	151	P50749	RASF2_HUMAN	H	151	ENSP00000368710:R151H;ENSP00000368684:R151H	ENSP00000368684:R151H	R	-	2	0	RASSF2	4719182	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.681000	0.54648	2.706000	0.92434	0.563000	0.77884	CGC		0.592	RASSF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077828.1	NM_014737		8	18	0	0	0	1	0	8	18					T	4771182	C	T	4771182	3	4	120	1	0	0	0	0	1	0	0	0	13086	768	27	1	552	1	RASSF2	20	4771182	Missense_Mutation	SNP	C	TCGA-EJ-A65E-01A-11D-A29Q-08		4771182	58254338	43	6333											
LAMA5	3911	broad.mit.edu	37	chr20	60887332	60887332	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccacgttcgagagcgccaggCgaaggaagccgtggccatgg	9	4	16	12	5	0	1	0	0	0	1	1	4	0	2	4	4	2	1	4	4	2	1	rs535545260		TCGA-EJ-A65E-01A-11D-A29Q-08	TCGA-EJ-A65E-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	914ddd96-a9b1-469b-8114-ed57c1184729	dcb67253-4e94-409e-a5cf-5a86196c1877	g.chr20:60887332C>T	ENST00000252999.3	-	69	9467	c.9401G>A	c.(9400-9402)cGc>cAc	p.R3134H		NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	3134	Laminin G-like 3. {ECO:0000255|PROSITE- ProRule:PRU00122}.				angiogenesis (GO:0001525)|branching involved in salivary gland morphogenesis (GO:0060445)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cell recognition (GO:0008037)|cilium assembly (GO:0042384)|cytoskeleton organization (GO:0007010)|embryo development (GO:0009790)|endothelial cell differentiation (GO:0045446)|establishment of protein localization to plasma membrane (GO:0090002)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|focal adhesion assembly (GO:0048041)|hair follicle development (GO:0001942)|integrin-mediated signaling pathway (GO:0007229)|lung development (GO:0030324)|morphogenesis of a polarized epithelium (GO:0001738)|morphogenesis of embryonic epithelium (GO:0016331)|muscle organ development (GO:0007517)|neural crest cell migration (GO:0001755)|odontogenesis of dentin-containing tooth (GO:0042475)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|regulation of embryonic development (GO:0045995)|substrate adhesion-dependent cell spreading (GO:0034446)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-11 complex (GO:0043260)|laminin-5 complex (GO:0005610)|nucleus (GO:0005634)	integrin binding (GO:0005178)|structural molecule activity (GO:0005198)			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)			GAGCGCCAGGCGAAGGAAGCC	0.682													.|||	1	0.000199681	0	0	5008	,	,		15520	0		0	False		,,,				2504	0.001					ENST00000252999.3																			0				breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81						c.(9400-9402)cGc>cAc		laminin, alpha 5	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						33	35	34					20																	60887332		2190	4291	6481	SO:0001583	missense	3911				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding	g.chr20:60887332C>T	AF443072	CCDS33502.1	20q13.2-q13.3	2013-03-01			ENSG00000130702	ENSG00000130702		"Laminins"	6485	protein-coding gene	gene with protein product		601033				9271224	Standard	NM_005560		Approved		uc002ycq.3	O15230	OTTHUMG00000032908	ENST00000252999.3:c.9401G>A	20.37:g.60887332C>T	ENSP00000252999:p.Arg3134His						p.R3134H	NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		69	9467	-	Breast(26;1.57e-08)		3134			Laminin G-like 3.		Q8TDF8|Q8WZA7|Q9H1P1	Missense_Mutation	SNP	ENST00000252999.3	37	c.9401G>A	CCDS33502.1	.	.	.	.	.	.	.	.	.	.	c	6.672	0.492505	0.12702	.	.	ENSG00000130702	ENST00000252999	T	0.44482	0.92	4.06	-1.67	0.08238	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (1);	0.792234	0.11846	N	0.523827	T	0.22627	0.0546	L	0.27053	0.805	0.09310	N	0.999995	B	0.02656	0.0	B	0.01281	0.0	T	0.16247	-1.0409	10	0.45353	T	0.12	.	1.6352	0.02740	0.1515:0.2622:0.3368:0.2496	.	3134	O15230	LAMA5_HUMAN	H	3134	ENSP00000252999:R3134H	ENSP00000252999:R3134H	R	-	2	0	LAMA5	60320727	0.002000	0.14202	0.344000	0.25628	0.002000	0.02628	0.708000	0.25719	-0.352000	0.08237	-2.393000	0.00227	CGC		0.682	LAMA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080014.2	NM_005560		3	24	0	0	0	1	0	3	24					T	60887332	C	T	60887332	3	4	120	1	0	0	0	0	1	0	0	0	8609	768	27	1	1734	1	LAMA5	20	60887332	Missense_Mutation	SNP	C	TCGA-EJ-A65E-01A-11D-A29Q-08	56116150	60887332	2138188	44	6334											
DSCAM	1826	broad.mit.edu	37	chr21	41551004	41551004	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggaaacatctttggttctctGagcagaatcccaggagtctt	10	12	10	9	0	3	2	0	1	3	1	5	4	4	4	1	3	2	2	1	3	2	3			TCGA-EJ-A65E-01A-11D-A29Q-08	TCGA-EJ-A65E-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	914ddd96-a9b1-469b-8114-ed57c1184729	dcb67253-4e94-409e-a5cf-5a86196c1877	g.chr21:41551004G>A	ENST00000400454.1	-	15	3274	c.2797C>T	c.(2797-2799)Cag>Tag	p.Q933*		NM_001271534.1|NM_001389.3	NP_001258463.1|NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	933	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|dendrite morphogenesis (GO:0048813)|dendrite self-avoidance (GO:0070593)|locomotory behavior (GO:0007626)|negative regulation of cell adhesion (GO:0007162)|nervous system development (GO:0007399)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of phosphorylation (GO:0042327)|post-embryonic retina morphogenesis in camera-type eye (GO:0060060)	axon (GO:0030424)|extracellular region (GO:0005576)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				TTGGTTCTCTGAGCAGAATCC	0.448																																					Melanoma(134;970 1778 1785 21664 32388)	ENST00000400454.1																			0				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142						c.(2797-2799)Cag>Tag		Down syndrome cell adhesion molecule							153	147	149					21																	41551004		1909	4122	6031	SO:0001587	stop_gained	1826				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding	g.chr21:41551004G>A	AF023449	CCDS42929.1	21q22.2-q22.3	2013-02-11			ENSG00000171587	ENSG00000171587		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	3039	protein-coding gene	gene with protein product		602523				9426258	Standard	NM_001271534		Approved	CHD2-42, CHD2-52	uc002yyq.1	O60469	OTTHUMG00000086732	ENST00000400454.1:c.2797C>T	21.37:g.41551004G>A	ENSP00000383303:p.Gln933*						p.Q933*	NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN			15	3274	-		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)	933			Fibronectin type-III 1.		O60468	Nonsense_Mutation	SNP	ENST00000400454.1	37	c.2797C>T	CCDS42929.1	.	.	.	.	.	.	.	.	.	.	G	40	8.083401	0.98646	.	.	ENSG00000171587	ENST00000400454;ENST00000404019	.	.	.	4.5	4.5	0.54988	.	0.067105	0.64402	D	0.000006	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06757	T	0.87	.	17.1669	0.86819	0.0:0.0:1.0:0.0	.	.	.	.	X	933;685	.	ENSP00000383303:Q933X	Q	-	1	0	DSCAM	40472874	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.536000	0.73842	2.208000	0.71279	0.561000	0.74099	CAG		0.448	DSCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195029.1	NM_001389		14	35	0	0	0	1	0	14	35					A	41551004	G	A	41551004	4	1	120	1	0	0	0	0	0	1	0	0	4768	1299	45	3	3317	3	DSCAM	21	41551004	Nonsense_Mutation	SNP	G	TCGA-EJ-A65E-01A-11D-A29Q-08		41551004	6578891	45	6335											
SGSM3	57591	broad.mit.edu	37	chr22	40805725	40805725	+	IGR	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agggcgtccgggacatgctgGtgaagcaccacctcttcagc	8	7	13	13	2	2	1	1	1	1	0	3	2	3	2	3	3	3	2	3	3	1	1			TCGA-EJ-A65E-01A-11D-A29Q-08	TCGA-EJ-A65E-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	914ddd96-a9b1-469b-8114-ed57c1184729	dcb67253-4e94-409e-a5cf-5a86196c1877	g.chr22:40805725G>C	ENST00000355630.3	-	0	4496				SGSM3_ENST00000248929.9_Missense_Mutation_p.V738L	NM_020831.3	NP_065882.1	Q969V6	MKL1_HUMAN	megakaryoblastic leukemia (translocation) 1						negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription via serum response element binding (GO:0010735)|smooth muscle cell differentiation (GO:0051145)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	actin binding (GO:0003779)|actin monomer binding (GO:0003785)|leucine zipper domain binding (GO:0043522)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	30						GGACATGCTGGTGAAGCACCA	0.667			T	RBM15	acute megakaryocytic leukemia																																	ENST00000248929.9				Dom	yes		22	22q13	57591		megakaryoblastic leukemia (translocation) 1			L					0				cervix(1)|endometrium(4)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|skin(6)	19						c.(2212-2214)Gtg>Ctg		small G protein signaling modulator 3							91	93	92					22																	40805725		2203	4300	6503	SO:0001628	intergenic_variant	27352				cell cycle arrest|Rap protein signal transduction	cytoplasm	Rab GTPase activator activity|Rab GTPase binding	g.chr22:40805725G>C	AB037859	CCDS14003.1, CCDS74865.1, CCDS74866.1	22q13	2008-06-12			ENSG00000196588	ENSG00000196588			14334	protein-coding gene	gene with protein product	"megakaryocytic acute leukemia", "myocardin-related transcription factor A", "basic, SAP and coiled-coil domain"	606078				11431691, 12019265, 14970199	Standard	XM_005261692		Approved	KIAA1438, MAL, MRTF-A, BSAC	uc003ayw.1	Q969V6	OTTHUMG00000151146		22.37:g.40805725G>C							p.V738L	NM_015705.4	NP_056520.2	Q96HU1	SGSM3_HUMAN			22	2401	+			738					Q8TCL1|Q96SC5|Q96SC6|Q9P2B0	Missense_Mutation	SNP	ENST00000355630.3	37	c.2212G>C	CCDS14003.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	15.68|15.68	2.905412|2.905412	0.52333|0.52333	.|.	.|.	ENSG00000100359|ENSG00000100359	ENST00000417424|ENST00000248929	.|T	.|0.14391	.|2.51	4.85|4.85	4.85|4.85	0.62838|0.62838	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.17874|0.17874	0.0429|0.0429	L|L	0.45137|0.45137	1.4|1.4	0.80722|0.80722	D|D	1|1	.|B;B;B	.|0.27416	.|0.019;0.178;0.042	.|B;B;B	.|0.33799	.|0.015;0.17;0.049	T|T	0.04307|0.04307	-1.0961|-1.0961	5|10	.|0.51188	.|T	.|0.08	.|.	18.3415|18.3415	0.90307|0.90307	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|649;766;738	.|B4DVE3;Q96HU1-2;Q96HU1	.|.;.;SGSM3_HUMAN	A|L	90|738	.|ENSP00000248929:V738L	.|ENSP00000248929:V738L	G|V	+|+	2|1	0|0	SGSM3|SGSM3	39135671|39135671	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.205000|0.205000	0.24178|0.24178	7.414000|7.414000	0.80117|0.80117	2.410000|2.410000	0.81850|0.81850	0.558000|0.558000	0.71614|0.71614	GGT|GTG		0.667	MKL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321522.1	NM_020831		35	92	0	0	0	1	0	35	92					C	40805725	G	C	40805725	1	2	120	0	1	0	0	0	0	0	0	0	14224	1261	44	5		5	SGSM3	22	40805725	IGR	SNP	G	TCGA-EJ-A65E-01A-11D-A29Q-08		40805725	10498841	46	6336											
CYBB	1536	broad.mit.edu	37	chrX	37660566	37660566	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tctgtgagaggttggtgcggTtttggcgatctcaacagaag	8	12	15	6	2	2	2	1	1	2	2	3	4	2	2	0	4	2	2	0	4	2	3			TCGA-EJ-A65E-01A-11D-A29Q-08	TCGA-EJ-A65E-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	914ddd96-a9b1-469b-8114-ed57c1184729	dcb67253-4e94-409e-a5cf-5a86196c1877	g.chrX:37660566T>A	ENST00000378588.4	+	8	929	c.862T>A	c.(862-864)Ttt>Att	p.F288I	CYBB_ENST00000492288.1_3'UTR|TM4SF2_ENST00000465127.1_Intron|CYBB_ENST00000545017.1_Missense_Mutation_p.F256I|CYBB_ENST00000536160.1_Missense_Mutation_p.F21I	NM_000397.3	NP_000388.2	P04839	CY24B_HUMAN	cytochrome b-245, beta polypeptide	288	FAD-binding FR-type. {ECO:0000255|PROSITE-ProRule:PRU00716}.				antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|hydrogen peroxide biosynthetic process (GO:0050665)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interaction with host (GO:0051701)|oxidation-reduction process (GO:0055114)|phagosome maturation (GO:0090382)|respiratory burst (GO:0045730)|response to drug (GO:0042493)|response to nutrient (GO:0007584)|superoxide anion generation (GO:0042554)|superoxide metabolic process (GO:0006801)	dendrite (GO:0030425)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|NADPH oxidase complex (GO:0043020)|neuronal cell body (GO:0043025)|phagocytic vesicle membrane (GO:0030670)|rough endoplasmic reticulum (GO:0005791)	flavin adenine dinucleotide binding (GO:0050660)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|superoxide-generating NADPH oxidase activity (GO:0016175)|voltage-gated ion channel activity (GO:0005244)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(20)|prostate(2)|skin(2)	32					Dextromethorphan(DB00514)	GTTGGTGCGGTTTTGGCGATC	0.408																																						ENST00000378588.4																			0				central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(20)|prostate(2)|skin(2)	32						c.(862-864)Ttt>Att		cytochrome b-245, beta polypeptide							355	305	322					X																	37660566		2202	4300	6502	SO:0001583	missense	1536				electron transport chain|inflammatory response|innate immune response|respiratory burst|superoxide anion generation	NADPH oxidase complex	electron carrier activity|flavin adenine dinucleotide binding|heme binding|protein heterodimerization activity|superoxide-generating NADPH oxidase activity|voltage-gated ion channel activity	g.chrX:37660566T>A	X04011	CCDS14242.1	Xp21.1	2014-09-17	2008-07-29		ENSG00000165168	ENSG00000165168		"Cytochrome b genes"	2578	protein-coding gene	gene with protein product		300481	"chronic granulomatous disease"	CGD			Standard	NM_000397		Approved	GP91-PHOX, NOX2	uc004ddr.2	P04839	OTTHUMG00000033175	ENST00000378588.4:c.862T>A	X.37:g.37660566T>A	ENSP00000367851:p.Phe288Ile					CYBB_ENST00000492288.1_3'UTR|TM4SF2_ENST00000465127.1_Intron|CYBB_ENST00000545017.1_Missense_Mutation_p.F256I|CYBB_ENST00000536160.1_Missense_Mutation_p.F21I	p.F288I	NM_000397.3	NP_000388.2	P04839	CY24B_HUMAN			8	929	+			288			FAD-binding FR-type.		A8K138|Q2PP16	Missense_Mutation	SNP	ENST00000378588.4	37	c.862T>A	CCDS14242.1	.	.	.	.	.	.	.	.	.	.	T	19.24	3.789418	0.70337	.	.	ENSG00000165168	ENST00000378588;ENST00000545017;ENST00000536160	D;D;D	0.93659	-3.26;-3.26;-3.26	5.91	5.91	0.95273	Riboflavin synthase-like beta-barrel (1);Ferredoxin reductase-type FAD-binding domain (1);	0.043420	0.85682	D	0.000000	D	0.90889	0.7137	L	0.58302	1.8	0.80722	D	1	B;P	0.35174	0.128;0.488	B;B	0.32022	0.098;0.139	D	0.89181	0.3544	10	0.26408	T	0.33	.	15.265	0.73654	0.0:0.0:0.0:1.0	.	256;288	F5GWD2;P04839	.;CY24B_HUMAN	I	288;256;21	ENSP00000367851:F288I;ENSP00000441896:F256I;ENSP00000441958:F21I	ENSP00000367851:F288I	F	+	1	0	CYBB	37545506	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.818000	0.62657	1.989000	0.58080	0.481000	0.45027	TTT		0.408	CYBB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080881.1			61	42	0	0	0	1	0	61	42					A	37660566	T	A	37660566	3	1	120	1	0	0	0	0	1	0	0	0	4133	1725	60	5	892	5	CYBB	23	37660566	Missense_Mutation	SNP	T	TCGA-EJ-A65E-01A-11D-A29Q-08		37660566	117609994	47	6337											
COL11A1	1301	broad.mit.edu	37	chr1	103480069	103480069	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aagtttatcctgtcttacccGagcctgctgaagaatagctt	10	13	8	10	1	1	2	0	1	1	1	2	3	2	2	3	0	4	3	3	0	6	5			TCGA-EJ-A65F-01A-21D-A30X-08	TCGA-EJ-A65F-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c17cad55-fb48-4813-8f26-083d3ece8ffa	17d98e3b-65f0-4395-8fdd-11ce4ccfc917	g.chr1:103480069G>A	ENST00000370096.3	-	13	1882	c.1570C>T	c.(1570-1572)Cgg>Tgg	p.R524W	COL11A1_ENST00000512756.1_Missense_Mutation_p.R408W|COL11A1_ENST00000358392.2_Missense_Mutation_p.R536W|COL11A1_ENST00000353414.4_Missense_Mutation_p.R485W	NM_001854.3	NP_001845.3	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	524	Telopeptide.				cartilage condensation (GO:0001502)|chondrocyte development (GO:0002063)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|embryonic skeletal system morphogenesis (GO:0048704)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|proteoglycan metabolic process (GO:0006029)|sensory perception of sound (GO:0007605)|tendon development (GO:0035989)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visual perception (GO:0007601)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		TGTCTTACCCGAGCCTGCTGA	0.418																																						ENST00000358392.2																			0				NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258						c.(1606-1608)Cgg>Tgg		collagen, type XI, alpha 1							102	85	90					1																	103480069		2203	4300	6503	SO:0001583	missense	1301				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging	g.chr1:103480069G>A	J04177	CCDS778.1, CCDS780.1, CCDS780.2, CCDS53348.1	1p21	2013-01-16			ENSG00000060718	ENSG00000060718		"Collagens"	2186	protein-coding gene	gene with protein product	"collagen XI, alpha-1 polypeptide"	120280		COLL6		3182841	Standard	NM_080630		Approved	STL2, CO11A1	uc001dul.3	P12107	OTTHUMG00000010872	ENST00000370096.3:c.1570C>T	1.37:g.103480069G>A	ENSP00000359114:p.Arg524Trp					COL11A1_ENST00000512756.1_Missense_Mutation_p.R408W|COL11A1_ENST00000353414.4_Missense_Mutation_p.R485W|COL11A1_ENST00000370096.3_Missense_Mutation_p.R524W	p.R536W	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)	13	1923	-		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)	524			Triple-helical region.		B1ASK7|D3DT73|E9PCU0|Q14034|Q149N0|Q9UIT4|Q9UIT5|Q9UIT6	Missense_Mutation	SNP	ENST00000370096.3	37	c.1606C>T	CCDS778.1	.	.	.	.	.	.	.	.	.	.	G	17.88	3.497638	0.64186	.	.	ENSG00000060718	ENST00000370096;ENST00000358392;ENST00000353414;ENST00000512756;ENST00000427239	D;D;D;D;D	0.89050	-2.45;-2.45;-2.43;-2.46;-2.24	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	D	0.93294	0.7863	M	0.79123	2.44	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.83275	0.982;0.996;0.996;0.99	D	0.93874	0.7165	10	0.87932	D	0	.	14.3261	0.66521	0.0:0.0:0.8156:0.1844	.	408;485;536;524	E9PCU0;P12107-3;P12107-2;P12107	.;.;.;COBA1_HUMAN	W	524;536;485;408;536	ENSP00000359114:R524W;ENSP00000351163:R536W;ENSP00000302551:R485W;ENSP00000426533:R408W;ENSP00000408640:R536W	ENSP00000302551:R485W	R	-	1	2	COL11A1	103252657	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.334000	0.52097	2.620000	0.88729	0.655000	0.94253	CGG		0.418	COL11A1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000029997.1	NM_080630		14	44	0	0	0	1	0	14	44					A	103480069	G	A	103480069	3	1	121	1	0	0	0	0	1	0	0	0	3667	1057	37	2	4070	2	COL11A1	1	103480069	Missense_Mutation	SNP	G	TCGA-EJ-A65F-01A-21D-A30X-08		103480069	145770552	1	6338											
HIPK1	204851	broad.mit.edu	37	chr1	114499303	114499303	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgttggcagagaaggcagacCgaagagaatacattgatctg	14	8	13	6	1	1	4	0	1	1	3	1	7	1	4	1	2	1	3	1	2	4	3			TCGA-EJ-A65F-01A-21D-A30X-08	TCGA-EJ-A65F-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c17cad55-fb48-4813-8f26-083d3ece8ffa	17d98e3b-65f0-4395-8fdd-11ce4ccfc917	g.chr1:114499303C>T	ENST00000369558.1	+	6	1694	c.1462C>T	c.(1462-1464)Cga>Tga	p.R488*	HIPK1_ENST00000369553.1_Nonsense_Mutation_p.R94*|HIPK1_ENST00000406344.1_Nonsense_Mutation_p.R94*|HIPK1_ENST00000340480.4_Nonsense_Mutation_p.R114*|HIPK1_ENST00000369555.2_Nonsense_Mutation_p.R488*|HIPK1_ENST00000426820.2_Nonsense_Mutation_p.R488*|HIPK1_ENST00000369559.4_Nonsense_Mutation_p.R488*|HIPK1_ENST00000369554.2_Nonsense_Mutation_p.R488*|HIPK1_ENST00000369561.4_Nonsense_Mutation_p.R488*			Q86Z02	HIPK1_HUMAN	homeodomain interacting protein kinase 1	488	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				anterior/posterior pattern specification (GO:0009952)|definitive hemopoiesis (GO:0060216)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|endothelial cell apoptotic process (GO:0072577)|extrinsic apoptotic signaling pathway (GO:0097191)|eye development (GO:0001654)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|iris morphogenesis (GO:0061072)|lens induction in camera-type eye (GO:0060235)|neuron differentiation (GO:0030182)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell proliferation (GO:0008284)|regulation of transcription, DNA-templated (GO:0006355)|regulation of tumor necrosis factor-mediated signaling pathway (GO:0010803)|retina layer formation (GO:0010842)|smoothened signaling pathway (GO:0007224)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|PML body (GO:0016605)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|prostate(2)	39	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GAAGGCAGACCGAAGAGAATA	0.383																																						ENST00000369558.1																			0				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|prostate(2)	39						c.(1462-1464)Cga>Tga		homeodomain interacting protein kinase 1							105	101	102					1																	114499303		2203	4300	6503	SO:0001587	stop_gained	204851				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr1:114499303C>T	AB089957	CCDS867.1, CCDS868.1, CCDS869.1, CCDS41370.1	1p13.1	2008-02-05			ENSG00000163349	ENSG00000163349			19006	protein-coding gene	gene with protein product		608003					Standard	NM_198268		Approved	KIAA0630, Myak, MGC26642, Nbak2, MGC33446, MGC33548	uc001eem.3	Q86Z02	OTTHUMG00000011983	ENST00000369558.1:c.1462C>T	1.37:g.114499303C>T	ENSP00000358571:p.Arg488*					HIPK1_ENST00000406344.1_Nonsense_Mutation_p.R94*|HIPK1_ENST00000426820.2_Nonsense_Mutation_p.R488*|HIPK1_ENST00000369553.1_Nonsense_Mutation_p.R94*|HIPK1_ENST00000340480.4_Nonsense_Mutation_p.R114*|HIPK1_ENST00000369559.4_Nonsense_Mutation_p.R488*|HIPK1_ENST00000369554.2_Nonsense_Mutation_p.R488*|HIPK1_ENST00000369555.2_Nonsense_Mutation_p.R488*|HIPK1_ENST00000369561.4_Nonsense_Mutation_p.R488*	p.R488*			Q86Z02	HIPK1_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	6	1694	+	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)	488			Protein kinase.		A6NJ34|O75125|Q5SQL2|Q5SQL4|Q5SQL5|Q8IYD7|Q8NDN5|Q8NEB6|Q8TBZ1	Nonsense_Mutation	SNP	ENST00000369558.1	37	c.1462C>T	CCDS867.1	.	.	.	.	.	.	.	.	.	.	C	39	7.328748	0.98214	.	.	ENSG00000163349	ENST00000426820;ENST00000369559;ENST00000443627;ENST00000369554;ENST00000369555;ENST00000369558;ENST00000369561;ENST00000340480;ENST00000369553;ENST00000406344	.	.	.	5.08	2.11	0.27256	.	0.000000	0.53938	D	0.000041	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.8788	0.63670	0.5298:0.4701:0.0:0.0	.	.	.	.	X	559;488;488;488;488;488;488;114;94;94	.	ENSP00000340956:R114X	R	+	1	2	HIPK1	114300826	0.994000	0.37717	0.997000	0.53966	0.992000	0.81027	0.431000	0.21444	0.289000	0.22422	0.650000	0.86243	CGA		0.383	HIPK1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000033127.1	NM_198268		8	47	0	0	0	1	0	8	47					T	114499303	C	T	114499303	4	4	121	1	0	0	0	0	0	1	0	0	7116	644	23	2	1498	2	HIPK1	1	114499303	Nonsense_Mutation	SNP	C	TCGA-EJ-A65F-01A-21D-A30X-08	11019234	114499303	134751318	2	6339											
NUP210L	91181	broad.mit.edu	37	chr1	154067630	154067630	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gccacttccacaggatttaaAgcctgatgatatttaaagaa	15	11	7	8	0	0	3	0	2	0	1	1	4	1	4	3	1	1	0	3	1	6	6			TCGA-EJ-A65F-01A-21D-A30X-08	TCGA-EJ-A65F-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c17cad55-fb48-4813-8f26-083d3ece8ffa	17d98e3b-65f0-4395-8fdd-11ce4ccfc917	g.chr1:154067630A>T	ENST00000368559.3	-	15	2039	c.1968T>A	c.(1966-1968)gcT>gcA	p.A656A	NUP210L_ENST00000271854.3_Silent_p.A656A	NM_207308.2	NP_997191.2	Q5VU65	P210L_HUMAN	nucleoporin 210kDa-like	656					Sertoli cell development (GO:0060009)|spermatid development (GO:0007286)	integral component of membrane (GO:0016021)				NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)			CAGGATTTAAAGCCTGATGAT	0.393																																						ENST00000368559.3																			0				NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80						c.(1966-1968)gcT>gcA		nucleoporin 210kDa-like							55	54	54					1																	154067630		1842	4079	5921	SO:0001819	synonymous_variant	91181					integral to membrane		g.chr1:154067630A>T	AK125924	CCDS41399.1, CCDS53370.1	1q21.3	2008-02-05			ENSG00000143552	ENSG00000143552			29915	protein-coding gene	gene with protein product							Standard	NM_207308		Approved		uc001fdw.3	Q5VU65	OTTHUMG00000035852	ENST00000368559.3:c.1968T>A	1.37:g.154067630A>T						NUP210L_ENST00000271854.3_Silent_p.A656A	p.A656A	NM_207308.2	NP_997191.2	Q5VU65	P210L_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)		15	2039	-	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		656					E7EP56|Q5T4L7|Q6ZRN1|Q6ZRT4|Q6ZU81|Q8NDI6|Q9UF31	Silent	SNP	ENST00000368559.3	37	c.1968T>A	CCDS41399.1																																																																																				0.393	NUP210L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087270.3	NM_207308		16	26	0	0	0	1	0	16	26					T	154067630	A	T	154067630	2	4	121	1	0	0	0	0	0	0	0	1	10761	59	3	5		5	NUP210L	1	154067630	Silent	SNP	A	TCGA-EJ-A65F-01A-21D-A30X-08	39568327	154067630	95182991	3	6340											
ATP2B4	493	broad.mit.edu	37	chr1	203690539	203690539	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ctttatccttgtctttgcggGtgagccactttgggggtggg	3	15	15	8	1	1	1	0	1	1	0	2	1	2	1	2	4	2	0	2	4	1	5			TCGA-EJ-A65F-01A-21D-A30X-08	TCGA-EJ-A65F-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c17cad55-fb48-4813-8f26-083d3ece8ffa	17d98e3b-65f0-4395-8fdd-11ce4ccfc917	g.chr1:203690539G>A	ENST00000357681.5	+	17	3935		c.e17+1		ATP2B4_ENST00000391954.2_Splice_Site|ATP2B4_ENST00000367218.3_Splice_Site|ATP2B4_ENST00000341360.2_Splice_Site|ATP2B4_ENST00000367219.3_Splice_Site	NM_001684.4	NP_001675.3	P23634	AT2B4_HUMAN	ATPase, Ca++ transporting, plasma membrane 4						blood coagulation (GO:0007596)|calcium ion homeostasis (GO:0055074)|calcium ion import across plasma membrane (GO:0098703)|calcium ion transmembrane transport (GO:0070588)|cellular calcium ion homeostasis (GO:0006874)|cellular response to epinephrine stimulus (GO:0071872)|ion transmembrane transport (GO:0034220)|negative regulation of adrenergic receptor signaling pathway involved in heart process (GO:1901205)|negative regulation of arginine catabolic process (GO:1900082)|negative regulation of calcineurin-NFAT signaling cascade (GO:0070885)|negative regulation of cardiac muscle hypertrophy in response to stress (GO:1903243)|negative regulation of citrulline biosynthetic process (GO:1903249)|negative regulation of nitric oxide biosynthetic process (GO:0045019)|negative regulation of nitric oxide mediated signal transduction (GO:0010751)|negative regulation of nitric-oxide synthase activity (GO:0051001)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of the force of heart contraction (GO:0098736)|positive regulation of cAMP-dependent protein kinase activity (GO:2000481)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of sodium ion transmembrane transport (GO:1902305)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to hydrostatic pressure (GO:0051599)|transmembrane transport (GO:0055085)	caveola (GO:0005901)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|calmodulin binding (GO:0005516)|metal ion binding (GO:0046872)|nitric-oxide synthase binding (GO:0050998)|protein phosphatase 2B binding (GO:0030346)|scaffold protein binding (GO:0097110)			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(20)|ovary(2)|prostate(6)|skin(1)|stomach(1)|urinary_tract(3)	56	all_cancers(21;0.071)|all_epithelial(62;0.228)		BRCA - Breast invasive adenocarcinoma(75;0.109)			GTCTTTGCGGGTGAGCCACTT	0.517																																						ENST00000357681.5																			0				NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(20)|ovary(2)|prostate(6)|skin(1)|stomach(1)|urinary_tract(3)	56						c.e17+1		ATPase, Ca++ transporting, plasma membrane 4							75	68	70					1																	203690539		2203	4300	6503	SO:0001630	splice_region_variant	493				ATP biosynthetic process|platelet activation	integral to plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding	g.chr1:203690539G>A	M25874	CCDS1440.1, CCDS30977.1	1q32.1	2010-04-20	2005-05-26		ENSG00000058668	ENSG00000058668	3.6.3.8	"ATPases / P-type"	817	protein-coding gene	gene with protein product	"plasma membrane calcium-transporting ATPase 4"	108732	"matrix-remodelling associated 1"	ATP2B2, MXRA1		1674727	Standard	NM_001001396		Approved	PMCA4	uc001gzw.3	P23634	OTTHUMG00000035906	ENST00000357681.5:c.2812+1G>A	1.37:g.203690539G>A						ATP2B4_ENST00000367218.3_Splice_Site|ATP2B4_ENST00000341360.2_Splice_Site|ATP2B4_ENST00000367219.3_Splice_Site|ATP2B4_ENST00000391954.2_Splice_Site		NM_001684.4	NP_001675.3	P23634	AT2B4_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.109)		17	3935	+	all_cancers(21;0.071)|all_epithelial(62;0.228)							B1APW5|B1APW6|Q13450|Q13452|Q13455|Q16817|Q7Z3S1	Splice_Site	SNP	ENST00000357681.5	37		CCDS1440.1	.	.	.	.	.	.	.	.	.	.	G	28.0	4.878004	0.91664	.	.	ENSG00000058668	ENST00000357681;ENST00000367218;ENST00000367219;ENST00000391954;ENST00000341360	.	.	.	5.1	5.1	0.69264	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.12	0.89568	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ATP2B4	201957162	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	9.783000	0.99037	2.389000	0.81357	0.655000	0.94253	.		0.517	ATP2B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087462.1	NM_001001396	Intron	10	70	0	0	0	1	0	10	70					A	203690539	G	A	203690539	5	1	121	1	0	0	0	0	0	0	1	0	1142	1275	44	3	2875	3	ATP2B4	1	203690539	Splice_Site	SNP	G	TCGA-EJ-A65F-01A-21D-A30X-08	49622909	203690539	45560082	4	6341											
CTSE	1510	broad.mit.edu	37	chr1	206318331	206318331	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtgcccctcaggaggcatcCgtccctcaagaagaagctgc	9	6	12	14	1	2	2	2	0	0	2	4	3	4	3	4	3	3	2	4	3	3	0	rs370714511		TCGA-EJ-A65F-01A-21D-A30X-08	TCGA-EJ-A65F-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c17cad55-fb48-4813-8f26-083d3ece8ffa	17d98e3b-65f0-4395-8fdd-11ce4ccfc917	g.chr1:206318331C>T	ENST00000358184.2	+	2	207	c.89C>T	c.(88-90)cCg>cTg	p.P30L	CTSE_ENST00000432969.2_Intron|CTSE_ENST00000360218.2_Missense_Mutation_p.P30L|CTSE_ENST00000361052.3_Missense_Mutation_p.P30L	NM_001910.3	NP_001901.1	P14091	CATE_HUMAN	cathepsin E	30					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|digestion (GO:0007586)|protein autoprocessing (GO:0016540)	endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)	aspartic-type endopeptidase activity (GO:0004190)			endometrium(2)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|skin(3)	16			BRCA - Breast invasive adenocarcinoma(75;0.0754)			AGGAGGCATCCGTCCCTCAAG	0.557													C|||	1	0.000199681	0	0	5008	,	,		15182	0		0	False		,,,				2504	0.001					ENST00000361052.3																			0				endometrium(2)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|skin(3)	16						c.(88-90)cCg>cTg		cathepsin E		C	LEU/PRO,LEU/PRO	0,4406		0,0,2203	53	56	55		89,89	-2.4	0	1		55	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	CTSE	NM_001910.3,NM_148964.2	98,98	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign,benign	30/397,30/364	206318331	1,13005	2203	4300	6503	SO:0001583	missense	1510				antigen processing and presentation of exogenous peptide antigen via MHC class II|digestion|proteolysis	endosome	aspartic-type endopeptidase activity	g.chr1:206318331C>T	BC042537	CCDS73012.1, CCDS73013.1	1q32.1	2008-02-05			ENSG00000196188	ENSG00000196188	3.4.23.5	"Cathepsins"	2530	protein-coding gene	gene with protein product		116890				2369841, 2674141	Standard	NM_001910		Approved		uc001hdu.3	P14091	OTTHUMG00000036121	ENST00000358184.2:c.89C>T	1.37:g.206318331C>T	ENSP00000350911:p.Pro30Leu					CTSE_ENST00000432969.2_Intron|CTSE_ENST00000360218.2_Missense_Mutation_p.P30L|CTSE_ENST00000358184.2_Missense_Mutation_p.P30L	p.P30L			P14091	CATE_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.0754)		2	207	+			30					Q5TZ01|Q5TZ02|Q9NY58|Q9UCE3|Q9UCE4	Missense_Mutation	SNP	ENST00000358184.2	37	c.89C>T	CCDS1462.1	.	.	.	.	.	.	.	.	.	.	C	10.96	1.498375	0.26861	0.0	1.16E-4	ENSG00000196188	ENST00000358184;ENST00000361052;ENST00000360218	T;T;T	0.51071	0.72;0.72;0.72	4.57	-2.4	0.06583	.	1.464330	0.04047	N	0.304117	T	0.41026	0.1141	L	0.58583	1.82	0.09310	N	1	B;B	0.28233	0.204;0.092	B;B	0.19148	0.024;0.015	T	0.37314	-0.9711	10	0.72032	D	0.01	.	5.7323	0.18047	0.3483:0.4818:0.0697:0.1002	.	30;30	P14091-2;P14091-1	.;.	L	30	ENSP00000350911:P30L;ENSP00000354337:P30L;ENSP00000353350:P30L	ENSP00000350911:P30L	P	+	2	0	CTSE	204484954	0.008000	0.16893	0.023000	0.16930	0.562000	0.35680	0.552000	0.23376	-0.513000	0.06496	0.655000	0.94253	CCG		0.557	CTSE-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000087998.1	NM_001910		3	38	0	0	0	1	0	3	38					T	206318331	C	T	206318331	3	4	121	1	0	0	0	0	1	0	0	0	4033	652	23	2	95	2	CTSE	1	206318331	Missense_Mutation	SNP	C	TCGA-EJ-A65F-01A-21D-A30X-08	2627792	206318331	42932290	5	6342											
MAPKAPK2	9261	broad.mit.edu	37	chr1	206858781	206858781	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	tacaaggtcaccagccaggtCctggggctgggcatcaacgg	9	6	14	12	1	2	0	2	0	0	0	3	0	3	0	3	6	3	2	3	6	3	1			TCGA-EJ-A65F-01A-21D-A30X-08	TCGA-EJ-A65F-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c17cad55-fb48-4813-8f26-083d3ece8ffa	17d98e3b-65f0-4395-8fdd-11ce4ccfc917	g.chr1:206858781C>G	ENST00000367103.3	+	1	400	c.207C>G	c.(205-207)gtC>gtG	p.V69V	MAPKAPK2_ENST00000294981.4_Silent_p.V69V	NM_004759.4|NM_032960.3	NP_004750.1|NP_116584.2	P49137	MAPK2_HUMAN	mitogen-activated protein kinase-activated protein kinase 2	69	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				3'-UTR-mediated mRNA stabilization (GO:0070935)|activation of MAPK activity (GO:0000187)|arachidonic acid metabolic process (GO:0019369)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|G2 DNA damage checkpoint (GO:0031572)|gene expression (GO:0010467)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|inner ear development (GO:0048839)|leukotriene metabolic process (GO:0006691)|macropinocytosis (GO:0044351)|MAPK cascade (GO:0000165)|mRNA metabolic process (GO:0016071)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|protein phosphorylation (GO:0006468)|Ras protein signal transduction (GO:0007265)|regulation of interleukin-6 production (GO:0032675)|regulation of tumor necrosis factor production (GO:0032680)|response to cytokine (GO:0034097)|response to lipopolysaccharide (GO:0032496)|response to stress (GO:0006950)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|signal transducer activity (GO:0004871)			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	19	Breast(84;0.183)		BRCA - Breast invasive adenocarcinoma(75;0.211)			CCAGCCAGGTCCTGGGGCTGG	0.607																																						ENST00000367103.3																			0				central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	19						c.(205-207)gtC>gtG		mitogen-activated protein kinase-activated protein kinase 2							45	46	45					1																	206858781		2203	4300	6503	SO:0001819	synonymous_variant	9261				activation of MAPK activity|hormone biosynthetic process|innate immune response|leukotriene biosynthetic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|prostanoid metabolic process|Ras protein signal transduction|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|signal transducer activity	g.chr1:206858781C>G	U12779	CCDS1466.1, CCDS31001.1	1q32	2008-02-05			ENSG00000162889	ENSG00000162889			6887	protein-coding gene	gene with protein product		602006				8179591, 8280084	Standard	NM_004759		Approved		uc001hem.2	P49137	OTTHUMG00000036342	ENST00000367103.3:c.207C>G	1.37:g.206858781C>G						MAPKAPK2_ENST00000294981.4_Silent_p.V69V	p.V69V	NM_004759.4|NM_032960.3	NP_004750.1|NP_116584.2	P49137	MAPK2_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.211)		1	400	+	Breast(84;0.183)		69			Protein kinase.		Q5SY30|Q5SY41|Q8IYD6	Silent	SNP	ENST00000367103.3	37	c.207C>G	CCDS31001.1																																																																																				0.607	MAPKAPK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088465.1	NM_004759		27	26	0	0	0	1	0	27	26					G	206858781	C	G	206858781	2	3	121	1	0	0	0	0	0	0	0	1	9289	842	30	5		5	MAPKAPK2	1	206858781	Silent	SNP	C	TCGA-EJ-A65F-01A-21D-A30X-08	540450	206858781	42391840	6	6343											
FCAMR	83953	broad.mit.edu	37	chr1	207133070	207133070	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgcaatagaaccagagccatAagcataaacagggccagcat	17	5	9	10	0	0	2	0	0	0	2	0	2	0	2	3	1	6	3	3	1	6	3			TCGA-EJ-A65F-01A-21D-A30X-08	TCGA-EJ-A65F-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c17cad55-fb48-4813-8f26-083d3ece8ffa	17d98e3b-65f0-4395-8fdd-11ce4ccfc917	g.chr1:207133070A>G	ENST00000450945.2	-	6	748	c.725T>C	c.(724-726)tTa>tCa	p.L242S	FCAMR_ENST00000486178.1_5'UTR|FCAMR_ENST00000400962.3_Missense_Mutation_p.L242S|FCAMR_ENST00000324852.4_Silent_p.L509L			Q8WWV6	FCAMR_HUMAN	Fc receptor, IgA, IgM, high affinity	383					immune system process (GO:0002376)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|skin(1)|stomach(1)	11						CCAGAGCCATAAGCATAAACA	0.522																																					Ovarian(199;1883 2142 16966 44409 45154)	ENST00000400962.3																			0				endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|skin(1)|stomach(1)	11						c.(724-726)tTa>tCa		Fc receptor, IgA, IgM, high affinity							153	148	149					1																	207133070		1568	3582	5150	SO:0001583	missense	83953					integral to membrane|plasma membrane	receptor activity	g.chr1:207133070A>G	AF354295	CCDS41460.1, CCDS53468.1	1q32.1	2013-01-14			ENSG00000162897	ENSG00000162897		"CD molecules", "Immunoglobulin superfamily / V-set domain containing"	24692	protein-coding gene	gene with protein product		605484				11779189	Standard	NM_001122979		Approved	FKSG87, FCA/MR, CD351	uc001hfa.4	Q8WWV6	OTTHUMG00000036579	ENST00000450945.2:c.725T>C	1.37:g.207133070A>G	ENSP00000392707:p.Leu242Ser					FCAMR_ENST00000324852.4_Silent_p.L509L|FCAMR_ENST00000486178.1_5'UTR|FCAMR_ENST00000450945.2_Missense_Mutation_p.L242S	p.L242S	NM_001122979.2|NM_032029.4	NP_001116451.1|NP_114418.2	Q8WWV6	FCAMR_HUMAN			7	1141	-			383					Q32M82|Q8WWV5|Q96SA2	Missense_Mutation	SNP	ENST00000450945.2	37	c.725T>C	CCDS41460.1	.	.	.	.	.	.	.	.	.	.	A	13.17	2.157028	0.38119	.	.	ENSG00000162897	ENST00000400962;ENST00000450945	T;T	0.06687	3.27;3.27	4.73	-1.41	0.08941	.	.	.	.	.	T	0.03136	0.0092	.	.	.	0.09310	N	1	B	0.19331	0.035	B	0.19391	0.025	T	0.47497	-0.9113	8	0.08179	T	0.78	-2.796	5.1821	0.15165	0.4116:0.1895:0.3988:0.0	.	197	Q8WWV6-2	.	S	242	ENSP00000383746:L242S;ENSP00000392707:L242S	ENSP00000383746:L242S	L	-	2	0	FCAMR	205199693	0.001000	0.12720	0.017000	0.16124	0.316000	0.28119	0.130000	0.15850	-0.120000	0.11809	-0.256000	0.11100	TTA		0.522	FCAMR-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000088968.2	NM_032029		105	107	0	0	0	1	0	105	107					G	207133070	A	G	207133070	3	3	121	1	0	0	0	0	1	0	0	0	5772	372	13	4	214	4	FCAMR	1	207133070	Missense_Mutation	SNP	A	TCGA-EJ-A65F-01A-21D-A30X-08	274289	207133070	42117551	7	6344											
ENAH	55740	broad.mit.edu	37	chr1	225699534	225699534	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aggtgtacttgttgaagaggCcttagaagttacaggctctg	10	12	13	6	0	1	3	0	1	1	2	1	3	1	3	1	3	2	4	1	3	5	5	rs549324711		TCGA-EJ-A65F-01A-21D-A30X-08	TCGA-EJ-A65F-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c17cad55-fb48-4813-8f26-083d3ece8ffa	17d98e3b-65f0-4395-8fdd-11ce4ccfc917	g.chr1:225699534C>A	ENST00000366844.3	-	10	1901	c.1450G>T	c.(1450-1452)Gcc>Tcc	p.A484S	ENAH_ENST00000366843.2_Missense_Mutation_p.A484S|ENAH_ENST00000284563.6_Missense_Mutation_p.A731S	NM_001008493.1|NM_018212.4	NP_001008493.1|NP_060682.2	Q8N8S7	ENAH_HUMAN	enabled homolog (Drosophila)	484	EVH2.				actin polymerization or depolymerization (GO:0008154)|axon guidance (GO:0007411)|intracellular transport (GO:0046907)|neural tube closure (GO:0001843)|T cell receptor signaling pathway (GO:0050852)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)|synapse (GO:0045202)	WW domain binding (GO:0050699)			NS(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23	Breast(184;0.206)			GBM - Glioblastoma multiforme(131;0.19)		GTTGAAGAGGCCTTAGAAGTT	0.323																																						ENST00000366844.2																			0				NS(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23						c.(1450-1452)Gcc>Tcc		enabled homolog (Drosophila)							38	40	39					1																	225699534		2200	4297	6497	SO:0001583	missense	55740				axon guidance|intracellular transport|T cell receptor signaling pathway	cytosol|filopodium|focal adhesion|lamellipodium|synapse	actin binding|SH3 domain binding|WW domain binding	g.chr1:225699534C>A	AK001635	CCDS31040.1, CCDS31041.1	1q32.2	2013-08-06			ENSG00000154380	ENSG00000154380			18271	protein-coding gene	gene with protein product	"mammalian enabled"	609061				1420303	Standard	XM_005273182		Approved	FLJ10773, NDPP1, MENA	uc001hpc.1	Q8N8S7	OTTHUMG00000037742	ENST00000366844.3:c.1450G>T	1.37:g.225699534C>A	ENSP00000355809:p.Ala484Ser					ENAH_ENST00000366843.2_Missense_Mutation_p.A484S|ENAH_ENST00000284563.6_Missense_Mutation_p.A731S	p.A484S	NM_001008493.1	NP_001008493.1	Q8N8S7	ENAH_HUMAN		GBM - Glioblastoma multiforme(131;0.19)	10	1901	-	Breast(184;0.206)		484			EVH2.		D0PQI2|Q502W5|Q5T5M7|Q5VTQ9|Q5VTR0|Q9NVF3|Q9UFB8	Missense_Mutation	SNP	ENST00000366844.3	37	c.1450G>T	CCDS31041.1	.	.	.	.	.	.	.	.	.	.	C	14.35	2.508406	0.44660	.	.	ENSG00000154380	ENST00000366844;ENST00000366843;ENST00000284563;ENST00000538194	T;T;T	0.41065	1.01;1.01;1.14	5.98	1.48	0.22813	.	0.455261	0.21789	N	0.069092	T	0.32315	0.0825	L	0.59436	1.845	0.32227	N	0.574487	P;B	0.51057	0.941;0.242	P;B	0.45712	0.491;0.119	T	0.46638	-0.9177	10	0.02654	T	1	-1.668	5.4363	0.16484	0.0:0.4559:0.2729:0.2711	.	484;484	Q8N8S7-2;Q8N8S7	.;ENAH_HUMAN	S	484;484;731;446	ENSP00000355809:A484S;ENSP00000355808:A484S;ENSP00000284563:A731S	ENSP00000284563:A731S	A	-	1	0	ENAH	223766157	0.990000	0.36364	0.789000	0.31954	0.974000	0.67602	0.330000	0.19715	0.407000	0.25591	0.655000	0.94253	GCC		0.323	ENAH-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000357426.2	NM_018212		5	17	1	0	0.000602214	1	0.000641067	5	17					A	225699534	C	A	225699534	3	1	121	1	0	0	0	0	1	0	0	0	5111	739	26	5	349	5	ENAH	1	225699534	Missense_Mutation	SNP	C	TCGA-EJ-A65F-01A-21D-A30X-08	18566464	225699534	23551087	8	6345											
NRBP1	29959	broad.mit.edu	37	chr2	27662756	27662756	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ttgcggcccactgcattgtgGgacaccaacgtgagtcgtct	7	10	12	12	3	1	1	0	1	1	0	2	2	1	2	2	2	3	1	2	2	1	2			TCGA-EJ-A65F-01A-21D-A30X-08	TCGA-EJ-A65F-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c17cad55-fb48-4813-8f26-083d3ece8ffa	17d98e3b-65f0-4395-8fdd-11ce4ccfc917	g.chr2:27662756G>C	ENST00000233557.3	+	12	1859	c.1027G>C	c.(1027-1029)Gga>Cga	p.G343R	KRTCAP3_ENST00000288873.3_5'Flank|KRTCAP3_ENST00000407293.1_5'Flank|NRBP1_ENST00000379852.3_Missense_Mutation_p.G343R|KRTCAP3_ENST00000543753.1_5'Flank|NRBP1_ENST00000379863.3_Missense_Mutation_p.G351R			Q9UHY1	NRBP_HUMAN	nuclear receptor binding protein 1	343					ER to Golgi vesicle-mediated transport (GO:0006888)|gene expression (GO:0010467)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell projection (GO:0042995)|endomembrane system (GO:0012505)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|perinuclear region of cytoplasm (GO:0048471)	ATP binding (GO:0005524)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19	Acute lymphoblastic leukemia(172;0.155)					CTGCATTGTGGGACACCAACG	0.517																																						ENST00000233557.3																			0				central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19						c.(1027-1029)Gga>Cga		nuclear receptor binding protein 1							94	92	93					2																	27662756		2203	4300	6503	SO:0001583	missense	29959				ER to Golgi vesicle-mediated transport|gene expression|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cell cortex|endomembrane system|lamellipodium|membrane|nucleoplasm	ATP binding|protein homodimerization activity|protein kinase activity	g.chr2:27662756G>C	AF113249	CCDS1753.1	2p23	2008-02-05	2005-12-22	2005-12-22	ENSG00000115216	ENSG00000115216			7993	protein-coding gene	gene with protein product		606010	"nuclear receptor binding protein"	NRBP		10843813, 11956649	Standard	NM_013392		Approved	BCON3, MUDPNP, MADM	uc002rkp.3	Q9UHY1	OTTHUMG00000097789	ENST00000233557.3:c.1027G>C	2.37:g.27662756G>C	ENSP00000233557:p.Gly343Arg					NRBP1_ENST00000379852.3_Missense_Mutation_p.G343R|NRBP1_ENST00000379863.3_Missense_Mutation_p.G351R	p.G343R			Q9UHY1	NRBP_HUMAN			12	1859	+	Acute lymphoblastic leukemia(172;0.155)		343					B3KV40|D6W558|Q53FZ5|Q96SU3	Missense_Mutation	SNP	ENST00000233557.3	37	c.1027G>C	CCDS1753.1	.	.	.	.	.	.	.	.	.	.	G	13.73	2.325371	0.41197	.	.	ENSG00000115216	ENST00000233557;ENST00000421823;ENST00000379852;ENST00000379863	T;T;T	0.30448	1.53;1.53;1.53	5.51	5.51	0.81932	.	0.046343	0.85682	D	0.000000	T	0.20740	0.0499	N	0.14661	0.345	0.50813	D	0.999894	B;B;B	0.09022	0.002;0.002;0.001	B;B;B	0.12156	0.002;0.007;0.003	T	0.06917	-1.0800	10	0.17369	T	0.5	-11.8002	17.9582	0.89076	0.0:0.0:1.0:0.0	.	323;351;343	B4DW31;F8W6G1;Q9UHY1	.;.;NRBP_HUMAN	R	343;323;343;351	ENSP00000233557:G343R;ENSP00000369181:G343R;ENSP00000369192:G351R	ENSP00000233557:G343R	G	+	1	0	NRBP1	27516260	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	4.183000	0.58317	2.598000	0.87819	0.655000	0.94253	GGA		0.517	NRBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215033.1	NM_013392		4	86	0	0	0	1	0	4	86					C	27662756	G	C	27662756	3	2	121	1	0	0	0	0	1	0	0	0	10642	1233	43	5	1065	5	NRBP1	2	27662756	Missense_Mutation	SNP	G	TCGA-EJ-A65F-01A-21D-A30X-08		27662756	215536617	9	6346											
LIPT1	51601	broad.mit.edu	37	chr2	99779276	99779276	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttagtataaatacttcctttCatgtgttatatgaacagtca	13	17	5	6	0	2	1	2	1	0	0	3	1	3	1	1	0	2	2	1	0	8	8			TCGA-EJ-A65F-01A-21D-A30X-08	TCGA-EJ-A65F-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c17cad55-fb48-4813-8f26-083d3ece8ffa	17d98e3b-65f0-4395-8fdd-11ce4ccfc917	g.chr2:99779276C>T	ENST00000393473.2	+	3	1080	c.856C>T	c.(856-858)Cat>Tat	p.H286Y	LIPT1_ENST00000393477.3_Missense_Mutation_p.H286Y|MRPL30_ENST00000410042.1_Intron|LIPT1_ENST00000393471.2_Missense_Mutation_p.H286Y|LIPT1_ENST00000393474.3_Missense_Mutation_p.H286Y|LIPT1_ENST00000340066.1_Missense_Mutation_p.H286Y	NM_001204830.1|NM_015929.3	NP_001191759.1|NP_057013.1	Q9Y234	LIPT_HUMAN	lipoyltransferase 1	286					cellular protein modification process (GO:0006464)|lipid metabolic process (GO:0006629)|protein lipoylation (GO:0009249)	mitochondrion (GO:0005739)	transferase activity, transferring acyl groups (GO:0016746)			large_intestine(6)|lung(1)	7					Lipoic Acid(DB00166)	TACTTCCTTTCATGTGTTATA	0.328																																					GBM(84;665 1268 21657 25485 30647)	ENST00000393477.3																			0				large_intestine(6)|lung(1)	7						c.(856-858)Cat>Tat		lipoyltransferase 1	Lipoic Acid(DB00166)						43	44	44					2																	99779276		2203	4300	6503	SO:0001583	missense	51601				lipid metabolic process|protein lipoylation	mitochondrion	acyltransferase activity	g.chr2:99779276C>T	AB017566	CCDS2039.1	2q11.2	2010-11-25			ENSG00000144182	ENSG00000144182	2.3.1.181		29569	protein-coding gene	gene with protein product		610284				10103005	Standard	NM_145197		Approved	MGC12290, MGC13378	uc002szq.4	Q9Y234	OTTHUMG00000130640	ENST00000393473.2:c.856C>T	2.37:g.99779276C>T	ENSP00000377115:p.His286Tyr					MRPL30_ENST00000410042.1_Intron|LIPT1_ENST00000393471.2_Missense_Mutation_p.H286Y|LIPT1_ENST00000393473.2_Missense_Mutation_p.H286Y|LIPT1_ENST00000393474.3_Missense_Mutation_p.H286Y|LIPT1_ENST00000340066.1_Missense_Mutation_p.H286Y	p.H286Y	NM_145197.2	NP_660198.1	Q9Y234	LIPT_HUMAN			4	1208	+			286					Q4ZFZ1	Missense_Mutation	SNP	ENST00000393473.2	37	c.856C>T	CCDS2039.1	.	.	.	.	.	.	.	.	.	.	C	0.189	-1.055289	0.01965	.	.	ENSG00000144182	ENST00000393473;ENST00000393477;ENST00000393474;ENST00000340066;ENST00000393471	.	.	.	4.96	1.11	0.20524	.	0.824023	0.11486	N	0.559243	T	0.35364	0.0929	N	0.22421	0.69	0.09310	N	1	B	0.15930	0.015	B	0.11329	0.006	T	0.30707	-0.9969	9	0.59425	D	0.04	-11.8914	13.367	0.60689	0.4183:0.5817:0.0:0.0	.	286	Q9Y234	LIPT_HUMAN	Y	286	.	ENSP00000342071:H286Y	H	+	1	0	LIPT1	99145708	0.004000	0.15560	0.023000	0.16930	0.031000	0.12232	0.460000	0.21924	0.044000	0.15775	-1.496000	0.00964	CAT		0.328	LIPT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253128.1	NM_015929		5	36	0	0	0	1	0	5	36					T	99779276	C	T	99779276	3	4	121	1	0	0	0	0	1	0	0	0	8829	826	29	3	858	3	LIPT1	2	99779276	Missense_Mutation	SNP	C	TCGA-EJ-A65F-01A-21D-A30X-08	72116520	99779276	143420097	10	6347											
GLI2	2736	broad.mit.edu	37	chr2	121748220	121748220	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catgctcaccagcctcgccgAggagagcaagttcctgaaca	11	6	10	14	2	1	2	1	1	0	1	3	4	2	2	4	1	4	3	4	1	2	1			TCGA-EJ-A65F-01A-21D-A30X-08	TCGA-EJ-A65F-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c17cad55-fb48-4813-8f26-083d3ece8ffa	17d98e3b-65f0-4395-8fdd-11ce4ccfc917	g.chr2:121748220A>T	ENST00000452319.1	+	14	4790	c.4730A>T	c.(4729-4731)gAg>gTg	p.E1577V	GLI2_ENST00000361492.4_Missense_Mutation_p.E1577V					GLI family zinc finger 2											NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(3;0.0496)	Prostate(154;0.0623)				AGCCTCGCCGAGGAGAGCAAG	0.637																																						ENST00000452319.1																			0				NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						c.(4729-4731)gAg>gTg		GLI family zinc finger 2							53	57	56					2																	121748220		2203	4300	6503	SO:0001583	missense	2736				axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr2:121748220A>T		CCDS33283.1	2q14	2013-01-25	2009-03-05		ENSG00000074047	ENSG00000074047		"Zinc fingers, C2H2-type"	4318	protein-coding gene	gene with protein product	"tax-responsive element-2 holding protein", "tax helper protein 1", "tax helper protein 2"	165230	"GLI-Kruppel family member GLI2", "glioma-associated oncogene family zinc finger 2"			2850480, 9557682	Standard	NM_005270		Approved	THP2, HPE9, THP1	uc010flp.3	P10070	OTTHUMG00000153741	ENST00000452319.1:c.4730A>T	2.37:g.121748220A>T	ENSP00000390436:p.Glu1577Val					GLI2_ENST00000361492.4_Missense_Mutation_p.E1577V	p.E1577V			P10070	GLI2_HUMAN			14	4790	+	Renal(3;0.0496)	Prostate(154;0.0623)	1577						Missense_Mutation	SNP	ENST00000452319.1	37	c.4730A>T	CCDS33283.1	.	.	.	.	.	.	.	.	.	.	A	20.3	3.959347	0.74016	.	.	ENSG00000074047	ENST00000452319;ENST00000361492	T;T	0.25414	1.8;1.8	4.98	4.98	0.66077	.	0.000000	0.85682	D	0.000000	T	0.53417	0.1795	M	0.79926	2.475	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.997;0.999	T	0.59941	-0.7359	10	0.72032	D	0.01	.	14.8465	0.70264	1.0:0.0:0.0:0.0	.	1577;1232	P10070;P10070-2	GLI2_HUMAN;.	V	1577	ENSP00000390436:E1577V;ENSP00000354586:E1577V	ENSP00000354586:E1577V	E	+	2	0	GLI2	121464690	1.000000	0.71417	0.994000	0.49952	0.651000	0.38670	9.139000	0.94554	2.088000	0.63022	0.454000	0.30748	GAG		0.637	GLI2-009	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332293.3	NM_005270		25	48	0	0	0	1	0	25	48					T	121748220	A	T	121748220	3	4	121	1	0	0	0	0	1	0	0	0	6438	304	11	5	4780	5	GLI2	2	121748220	Missense_Mutation	SNP	A	TCGA-EJ-A65F-01A-21D-A30X-08	21968944	121748220	121451153	11	6348											
NEB	4703	broad.mit.edu	37	chr2	152486104	152486104	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccacgatggggatggcgtcActtcgcaagtcgtagccttt	7	10	13	11	4	1	0	1	0	0	0	3	2	1	1	2	3	1	2	2	3	2	3			TCGA-EJ-A65F-01A-21D-A30X-08	TCGA-EJ-A65F-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c17cad55-fb48-4813-8f26-083d3ece8ffa	17d98e3b-65f0-4395-8fdd-11ce4ccfc917	g.chr2:152486104A>T	ENST00000172853.10	-	64	9198	c.9051T>A	c.(9049-9051)agT>agA	p.S3017R	NEB_ENST00000427231.2_Missense_Mutation_p.S3260R|NEB_ENST00000397345.3_Missense_Mutation_p.S3260R|NEB_ENST00000604864.1_Missense_Mutation_p.S3260R|NEB_ENST00000603639.1_Missense_Mutation_p.S3260R|NEB_ENST00000409198.1_Missense_Mutation_p.S3017R			P20929	NEBU_HUMAN	nebulin	3017					muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		GGATGGCGTCACTTCGCAAGT	0.453																																						ENST00000427231.2																			0				NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301						c.(9778-9780)agT>agA		nebulin							157	159	158					2																	152486104		1946	4137	6083	SO:0001583	missense	4703				muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle	g.chr2:152486104A>T	X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"nemaline myopathy type 2"	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.9051T>A	2.37:g.152486104A>T	ENSP00000172853:p.Ser3017Arg					NEB_ENST00000604864.1_Missense_Mutation_p.S3260R|NEB_ENST00000603639.1_Missense_Mutation_p.S3260R|NEB_ENST00000397345.3_Missense_Mutation_p.S3260R|NEB_ENST00000172853.10_Missense_Mutation_p.S3017R|NEB_ENST00000409198.1_Missense_Mutation_p.S3017R	p.S3260R	NM_001164507.1	NP_001157979.1	P20929	NEBU_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.219)	68	9982	-			3260					F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Missense_Mutation	SNP	ENST00000172853.10	37	c.9780T>A		.	.	.	.	.	.	.	.	.	.	A	10.41	1.343100	0.24339	.	.	ENSG00000183091	ENST00000409198;ENST00000397345;ENST00000427231;ENST00000172853	T;T;T;T	0.06068	3.37;3.37;3.35;3.37	6.04	-10.4	0.00318	.	1.181440	0.05765	N	0.605647	T	0.05090	0.0136	L	0.34521	1.04	0.80722	D	1	B	0.23316	0.083	B	0.22386	0.039	T	0.38866	-0.9641	10	0.14656	T	0.56	.	16.2414	0.82409	0.2423:0.0:0.6791:0.0786	.	3017	P20929	NEBU_HUMAN	R	3017;3260;3260;3017	ENSP00000386259:S3017R;ENSP00000380505:S3260R;ENSP00000416578:S3260R;ENSP00000172853:S3017R	ENSP00000172853:S3017R	S	-	3	2	NEB	152194350	0.000000	0.05858	0.001000	0.08648	0.501000	0.33797	-2.303000	0.01135	-2.373000	0.00600	-0.376000	0.06991	AGT		0.453	NEB-201	KNOWN	basic	protein_coding	protein_coding		NM_004543		19	54	0	0	0	1	0	19	54					T	152486104	A	T	152486104	3	4	121	1	0	0	0	0	1	0	0	0	10302	156	6	5	16366	5	NEB	2	152486104	Missense_Mutation	SNP	A	TCGA-EJ-A65F-01A-21D-A30X-08	30737884	152486104	90713269	12	6349											
CCDC148	130940	broad.mit.edu	37	chr2	159166039	159166039	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgcacaagcctcagtgagtGtcagcacagccttctgtata	10	11	9	11	0	3	1	2	1	1	0	3	1	3	1	2	0	4	3	2	0	3	4			TCGA-EJ-A65F-01A-21D-A30X-08	TCGA-EJ-A65F-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c17cad55-fb48-4813-8f26-083d3ece8ffa	17d98e3b-65f0-4395-8fdd-11ce4ccfc917	g.chr2:159166039G>T	ENST00000283233.5	-	9	1329	c.1016C>A	c.(1015-1017)aCa>aAa	p.T339K	CCDC148_ENST00000409187.1_Missense_Mutation_p.T348K|CCDC148_ENST00000536771.1_Missense_Mutation_p.T253K	NM_138803.3	NP_620158.3	Q8NFR7	CC148_HUMAN	coiled-coil domain containing 148	339										endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	23						CTCAGTGAGTGTCAGCACAGC	0.383																																						ENST00000283233.5																			0				endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	23						c.(1015-1017)aCa>aAa		coiled-coil domain containing 148							145	139	141					2																	159166039		2203	4300	6503	SO:0001583	missense	130940							g.chr2:159166039G>T		CCDS33304.1	2q24.1	2007-12-07			ENSG00000153237	ENSG00000153237			25191	protein-coding gene	gene with protein product							Standard	NM_138803		Approved	MGC125588	uc002tzq.3	Q8NFR7	OTTHUMG00000153973	ENST00000283233.5:c.1016C>A	2.37:g.159166039G>T	ENSP00000283233:p.Thr339Lys					CCDC148_ENST00000409187.1_Missense_Mutation_p.T348K|CCDC148_ENST00000536771.1_Missense_Mutation_p.T253K	p.T339K	NM_138803.3	NP_620158.3	Q8NFR7	CC148_HUMAN			9	1329	-			339					F5H839|Q3B7I3|Q3B7I4|Q3KR41|Q4ZG12|Q4ZG23|Q53TM6|Q96BN5|Q96LM2	Missense_Mutation	SNP	ENST00000283233.5	37	c.1016C>A	CCDS33304.1	.	.	.	.	.	.	.	.	.	.	G	20.5	3.994232	0.74703	.	.	ENSG00000153237	ENST00000283233;ENST00000375617;ENST00000409187;ENST00000536771	T;T;T	0.38401	1.85;1.85;1.14	5.82	5.82	0.92795	.	.	.	.	.	T	0.58192	0.2105	M	0.74881	2.28	0.41047	D	0.985273	D;D;D;D;D	0.89917	1.0;1.0;1.0;0.992;0.992	D;D;D;P;P	0.91635	0.999;0.997;0.997;0.813;0.813	T	0.52668	-0.8545	9	0.09338	T	0.73	-5.6818	17.5868	0.87983	0.0:0.0:1.0:0.0	.	253;187;187;348;339	F5H839;C9JR76;Q8NFR7-2;B8ZZV3;Q8NFR7	.;.;.;.;CC148_HUMAN	K	339;187;348;253	ENSP00000283233:T339K;ENSP00000386674:T348K;ENSP00000443740:T253K	ENSP00000283233:T339K	T	-	2	0	CCDC148	158874285	1.000000	0.71417	0.927000	0.36925	0.670000	0.39368	4.891000	0.63185	2.756000	0.94617	0.561000	0.74099	ACA		0.383	CCDC148-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333270.1	NM_138803		17	20	1	0	1.02788e-11	1	1.14338e-11	17	20					T	159166039	G	T	159166039	3	4	121	1	0	0	0	0	1	0	0	0	2782	1377	48	5	835	5	CCDC148	2	159166039	Missense_Mutation	SNP	G	TCGA-EJ-A65F-01A-21D-A30X-08	6679935	159166039	84033334	13	6350											
BAZ2B	29994	broad.mit.edu	37	chr2	160181377	160181377	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atccataggcttcttaataaCtttcttataaccaggaacaa	15	13	4	9	0	2	0	0	0	2	0	3	1	3	1	2	2	3	1	2	2	7	7			TCGA-EJ-A65F-01A-21D-A30X-08	TCGA-EJ-A65F-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c17cad55-fb48-4813-8f26-083d3ece8ffa	17d98e3b-65f0-4395-8fdd-11ce4ccfc917	g.chr2:160181377C>T	ENST00000392783.2	-	36	6793	c.6298G>A	c.(6298-6300)Gtt>Att	p.V2100I	BAZ2B_ENST00000355831.2_Missense_Mutation_p.V2066I|BAZ2B_ENST00000392782.1_Missense_Mutation_p.V2064I|BAZ2B_ENST00000343439.5_Missense_Mutation_p.V2000I	NM_013450.2	NP_038478.2	Q9UIF8	BAZ2B_HUMAN	bromodomain adjacent to zinc finger domain, 2B	2100	Bromo. {ECO:0000255|PROSITE- ProRule:PRU00035}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	82						TTCTTAATAACTTTCTTATAA	0.318																																						ENST00000392783.2																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	82						c.(6298-6300)Gtt>Att		bromodomain adjacent to zinc finger domain, 2B							58	56	56					2																	160181377		1798	4058	5856	SO:0001583	missense	29994				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr2:160181377C>T	AB032255	CCDS2209.2, CCDS74594.1	2q24.2	2013-01-28			ENSG00000123636	ENSG00000123636		"Zinc fingers, PHD-type"	963	protein-coding gene	gene with protein product		605683				10662543	Standard	XM_005246488		Approved	WALp4	uc002uao.3	Q9UIF8	OTTHUMG00000132027	ENST00000392783.2:c.6298G>A	2.37:g.160181377C>T	ENSP00000376534:p.Val2100Ile					BAZ2B_ENST00000392782.1_Missense_Mutation_p.V2064I|BAZ2B_ENST00000355831.2_Missense_Mutation_p.V2066I|BAZ2B_ENST00000343439.5_Missense_Mutation_p.V2000I	p.V2100I	NM_013450.2	NP_038478.2	Q9UIF8	BAZ2B_HUMAN			36	6793	-			2100			Bromo.		D3DPA8|Q96EA1|Q96SQ8|Q9P252|Q9Y4N8	Missense_Mutation	SNP	ENST00000392783.2	37	c.6298G>A	CCDS2209.2	.	.	.	.	.	.	.	.	.	.	C	15.19	2.760892	0.49468	.	.	ENSG00000123636	ENST00000392782;ENST00000392783;ENST00000355831;ENST00000343439	T;T;T;T	0.26810	1.71;1.71;1.71;1.71	5.48	5.48	0.80851	Bromodomain (6);Bromodomain, conserved site (1);	0.000000	0.33477	U	0.004873	T	0.25975	0.0633	N	0.04655	-0.195	0.58432	D	0.999999	B;D	0.53312	0.354;0.959	B;D	0.64144	0.068;0.922	T	0.07888	-1.0749	10	0.07030	T	0.85	-14.8682	19.7236	0.96153	0.0:1.0:0.0:0.0	.	2064;2100	Q9UIF8-5;Q9UIF8	.;BAZ2B_HUMAN	I	2064;2100;2066;2000	ENSP00000376533:V2064I;ENSP00000376534:V2100I;ENSP00000348087:V2066I;ENSP00000339670:V2000I	ENSP00000339670:V2000I	V	-	1	0	BAZ2B	159889623	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.681000	0.68175	2.730000	0.93505	0.655000	0.94253	GTT		0.318	BAZ2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255037.2			20	22	0	0	0	1	0	20	22					T	160181377	C	T	160181377	3	4	121	1	0	0	0	0	1	0	0	0	1332	565	20	3	216	3	BAZ2B	2	160181377	Missense_Mutation	SNP	C	TCGA-EJ-A65F-01A-21D-A30X-08	1015338	160181377	83017996	14	6351											
GALNT3	2591	broad.mit.edu	37	chr2	166621453	166621453	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gcagtattgcaggtgaagaaTagagcacactgtggacagtt	13	9	13	6	0	0	3	0	1	0	2	0	4	0	4	0	2	2	5	0	2	4	4			TCGA-EJ-A65F-01A-21D-A30X-08	TCGA-EJ-A65F-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c17cad55-fb48-4813-8f26-083d3ece8ffa	17d98e3b-65f0-4395-8fdd-11ce4ccfc917	g.chr2:166621453T>G	ENST00000392701.3	-	3	1404	c.629A>C	c.(628-630)tAt>tCt	p.Y210S		NM_004482.3	NP_004473.2	Q14435	GALT3_HUMAN	polypeptide N-acetylgalactosaminyltransferase 3	210	Catalytic subdomain A.				carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein O-linked glycosylation via serine (GO:0018242)|protein O-linked glycosylation via threonine (GO:0018243)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|manganese ion binding (GO:0030145)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			NS(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|skin(1)	20						AGGTGAAGAATAGAGCACACT	0.428																																						ENST00000392701.3																			0				NS(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|skin(1)	20						c.(628-630)tAt>tCt		UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 3 (GalNAc-T3)							175	161	166					2																	166621453		2203	4300	6503	SO:0001583	missense	2591				protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine	Golgi cisterna membrane|integral to membrane|membrane fraction|nucleus|perinuclear region of cytoplasm	calcium ion binding|manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr2:166621453T>G		CCDS2226.1	2q24-q31	2014-03-13	2014-03-13		ENSG00000115339	ENSG00000115339	2.4.1.41	"Glycosyltransferase family 2 domain containing"	4125	protein-coding gene	gene with protein product	"polypeptide GalNAc transferase 3"	601756	"UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 3 (GalNAc-T3)"			9592121, 15133511	Standard	NM_004482		Approved	GalNAc-T3, HHS, HFTC	uc010fph.1	Q14435	OTTHUMG00000132157	ENST00000392701.3:c.629A>C	2.37:g.166621453T>G	ENSP00000376465:p.Tyr210Ser						p.Y210S	NM_004482.3	NP_004473.2	Q14435	GALT3_HUMAN			3	1404	-			210			Catalytic subdomain A.		Q53TG9|Q7Z476	Missense_Mutation	SNP	ENST00000392701.3	37	c.629A>C	CCDS2226.1	.	.	.	.	.	.	.	.	.	.	T	11.66	1.703544	0.30232	.	.	ENSG00000115339	ENST00000392701;ENST00000412248	T;T	0.59772	0.24;0.24	5.8	5.8	0.92144	Glycosyl transferase, family 2 (1);	0.062614	0.64402	D	0.000003	T	0.33614	0.0869	N	0.01679	-0.765	0.80722	D	1	B	0.12013	0.005	B	0.17098	0.017	T	0.23797	-1.0178	10	0.46703	T	0.11	.	16.138	0.81502	0.0:0.0:0.0:1.0	.	210	Q14435	GALT3_HUMAN	S	210	ENSP00000376465:Y210S;ENSP00000412643:Y210S	ENSP00000376465:Y210S	Y	-	2	0	GALNT3	166329699	1.000000	0.71417	0.999000	0.59377	0.002000	0.02628	8.036000	0.88901	2.203000	0.70933	0.459000	0.35465	TAT		0.428	GALNT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255205.2	NM_004482		31	62	0	0	0	1	0	31	62					G	166621453	T	G	166621453	3	3	121	1	0	0	0	0	1	0	0	0	6214	1406	49	5	1308	5	GALNT3	2	166621453	Missense_Mutation	SNP	T	TCGA-EJ-A65F-01A-21D-A30X-08	6440076	166621453	76577920	15	6352											
TTN	7273	broad.mit.edu	37	chr2	179428723	179428723	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tttccgcagtaactccagtaActttcagaggcccttcagga	10	11	8	12	1	2	1	2	0	0	1	4	2	4	2	3	2	2	3	3	2	2	5			TCGA-EJ-A65F-01A-21D-A30X-08	TCGA-EJ-A65F-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c17cad55-fb48-4813-8f26-083d3ece8ffa	17d98e3b-65f0-4395-8fdd-11ce4ccfc917	g.chr2:179428723A>C	ENST00000591111.1	-	276	77437	c.77213T>G	c.(77212-77214)gTt>gGt	p.V25738G	TTN_ENST00000342175.6_Missense_Mutation_p.V18506G|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.V18439G|TTN_ENST00000460472.2_Missense_Mutation_p.V18314G|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.V27379G|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.V24811G|TTN-AS1_ENST00000438095.1_RNA			Q8WZ42	TITIN_HUMAN	titin	25738	Fibronectin type-III 87. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AACTCCAGTAACTTTCAGAGG	0.438																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(82135-82137)gTt>gGt		titin							95	92	93					2																	179428723		1847	4092	5939	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179428723A>C	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.77213T>G	2.37:g.179428723A>C	ENSP00000465570:p.Val25738Gly					TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.V25738G|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.V18506G|TTN_ENST00000460472.2_Missense_Mutation_p.V18314G|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.V18439G|TTN_ENST00000342992.6_Missense_Mutation_p.V24811G	p.V27379G	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		326	82360	-			25738			Fibronectin type-III 99.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.82136T>G		.	.	.	.	.	.	.	.	.	.	A	12.51	1.958703	0.34565	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.61158	0.13;0.13;0.13;0.13	6.16	6.16	0.99307	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.80706	0.4674	M	0.89715	3.055	0.80722	D	1	D;D;D;D	0.76494	0.999;0.999;0.999;0.999	D;D;D;D	0.70487	0.969;0.969;0.969;0.969	D	0.84630	0.0689	9	0.87932	D	0	.	16.8061	0.85666	1.0:0.0:0.0:0.0	.	18314;18439;18506;25738	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	G	24811;18314;18506;18439;18312	ENSP00000343764:V24811G;ENSP00000434586:V18314G;ENSP00000340554:V18506G;ENSP00000352154:V18439G	ENSP00000340554:V18506G	V	-	2	0	TTN	179136969	1.000000	0.71417	1.000000	0.80357	0.761000	0.43186	9.339000	0.96797	2.367000	0.80283	0.528000	0.53228	GTT		0.438	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		20	73	0	0	0	1	0	20	73					C	179428723	A	C	179428723	3	2	121	1	0	0	0	0	1	0	0	0	16732	43	2	5	25991	5	TTN	2	179428723	Missense_Mutation	SNP	A	TCGA-EJ-A65F-01A-21D-A30X-08	12807270	179428723	63770650	16	6353											
DNAH7	56171	broad.mit.edu	37	chr2	196756423	196756423	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actgacagcaaggaccccatCagaccattcatgggacactg	13	6	9	13	0	2	2	2	1	0	1	2	4	2	4	3	2	1	1	3	2	1	1			TCGA-EJ-A65F-01A-21D-A30X-08	TCGA-EJ-A65F-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c17cad55-fb48-4813-8f26-083d3ece8ffa	17d98e3b-65f0-4395-8fdd-11ce4ccfc917	g.chr2:196756423C>A	ENST00000312428.6	-	31	5102	c.5002G>T	c.(5002-5004)Gat>Tat	p.D1668Y		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	1668	AAA 2. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)	axonemal dynein complex (GO:0005858)|cilium (GO:0005929)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|microtubule motor activity (GO:0003777)			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						AGGACCCCATCAGACCATTCA	0.378																																						ENST00000312428.6																			0				NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						c.(5002-5004)Gat>Tat		dynein, axonemal, heavy chain 7							102	95	97					2																	196756423		1885	4110	5995	SO:0001583	missense	56171				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr2:196756423C>A	AF327442	CCDS42794.1	2q33.1	2013-01-10	2006-09-04		ENSG00000118997	ENSG00000118997		"Axonemal dyneins", "EF-hand domain containing"	18661	protein-coding gene	gene with protein product		610061	"dynein, axonemal, heavy polypeptide 7"			9373155, 11877439	Standard	NM_018897		Approved	KIAA0944	uc002utj.4	Q8WXX0	OTTHUMG00000154438	ENST00000312428.6:c.5002G>T	2.37:g.196756423C>A	ENSP00000311273:p.Asp1668Tyr						p.D1668Y	NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN			31	5102	-			1668			AAA 2 (By similarity).		B8ZZX8|O00433|O95492|Q4G152|Q53QX7|Q53S64|Q53T02|Q68CY5|Q8N1Z2|Q9UMS3|Q9Y2F3	Missense_Mutation	SNP	ENST00000312428.6	37	c.5002G>T	CCDS42794.1	.	.	.	.	.	.	.	.	.	.	C	16.59	3.166363	0.57476	.	.	ENSG00000118997	ENST00000312428	D	0.92099	-2.97	5.32	5.32	0.75619	.	0.000000	0.85682	D	0.000000	D	0.98071	0.9364	H	0.99347	4.525	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99334	1.0910	10	0.87932	D	0	.	18.7834	0.91944	0.0:1.0:0.0:0.0	.	1668	Q8WXX0	DYH7_HUMAN	Y	1668	ENSP00000311273:D1668Y	ENSP00000311273:D1668Y	D	-	1	0	DNAH7	196464668	1.000000	0.71417	0.199000	0.23439	0.064000	0.16182	5.761000	0.68801	2.770000	0.95276	0.650000	0.86243	GAT		0.378	DNAH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335202.3	NM_018897		4	43	1	0	0.00909568	1	0.00928322	4	43					A	196756423	C	A	196756423	3	1	121	1	0	0	0	0	1	0	0	0	4606	826	29	5	7212	5	DNAH7	2	196756423	Missense_Mutation	SNP	C	TCGA-EJ-A65F-01A-21D-A30X-08	17327700	196756423	46442950	17	6354											
LRRC3B	116135	broad.mit.edu	37	chr3	26751671	26751671	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcatgagacagcccacaacGtgatctgtaaaacgtccgtg	13	8	9	11	3	2	2	1	2	1	1	3	3	3	2	2	0	3	1	2	0	3	1			TCGA-EJ-A65F-01A-21D-A30X-08	TCGA-EJ-A65F-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c17cad55-fb48-4813-8f26-083d3ece8ffa	17d98e3b-65f0-4395-8fdd-11ce4ccfc917	g.chr3:26751671G>C	ENST00000396641.2	+	2	1100	c.508G>C	c.(508-510)Gtg>Ctg	p.V170L	AC114877.3_ENST00000446601.1_lincRNA|LRRC3B_ENST00000456208.2_Missense_Mutation_p.V170L|LRRC3B_ENST00000417744.1_Missense_Mutation_p.V170L	NM_052953.2	NP_443185.1	Q96PB8	LRC3B_HUMAN	leucine rich repeat containing 3B	170	LRRCT.					integral component of membrane (GO:0016021)		p.V170M(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|pancreas(2)|prostate(1)|skin(4)	21						AGCCCACAACGTGATCTGTAA	0.517																																						ENST00000396641.2																			1	Substitution - Missense(1)	p.V170M(1)	endometrium(1)	breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|pancreas(2)|prostate(1)|skin(4)	21						c.(508-510)Gtg>Ctg		leucine rich repeat containing 3B							69	57	61					3																	26751671		2203	4300	6503	SO:0001583	missense	116135					integral to membrane		g.chr3:26751671G>C	AF396933	CCDS2644.1	3p24	2004-07-12			ENSG00000179796	ENSG00000179796			28105	protein-coding gene	gene with protein product							Standard	NM_052953		Approved	LRP15	uc003cdp.3	Q96PB8	OTTHUMG00000130572	ENST00000396641.2:c.508G>C	3.37:g.26751671G>C	ENSP00000379880:p.Val170Leu					LRRC3B_ENST00000456208.2_Missense_Mutation_p.V170L|LRRC3B_ENST00000417744.1_Missense_Mutation_p.V170L	p.V170L	NM_052953.2	NP_443185.1	Q96PB8	LRC3B_HUMAN			2	1100	+			170			LRRCT.		Q5M8T0	Missense_Mutation	SNP	ENST00000396641.2	37	c.508G>C	CCDS2644.1	.	.	.	.	.	.	.	.	.	.	G	15.28	2.786176	0.49997	.	.	ENSG00000179796	ENST00000396641;ENST00000417744;ENST00000456208	D;D;D	0.89681	-2.55;-2.55;-2.55	6.17	5.3	0.74995	.	0.000000	0.85682	D	0.000000	D	0.82811	0.5118	L	0.31752	0.955	0.80722	D	1	B	0.32338	0.365	B	0.28011	0.085	T	0.81835	-0.0750	10	0.49607	T	0.09	-10.847	14.8782	0.70510	0.0683:0.0:0.9317:0.0	.	170	Q96PB8	LRC3B_HUMAN	L	170	ENSP00000379880:V170L;ENSP00000406370:V170L;ENSP00000394940:V170L	ENSP00000379880:V170L	V	+	1	0	LRRC3B	26726675	1.000000	0.71417	0.998000	0.56505	0.783000	0.44284	8.021000	0.88750	1.626000	0.50381	0.655000	0.94253	GTG		0.517	LRRC3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252997.2	NM_052953		7	20	0	0	0	1	0	7	20					C	26751671	G	C	26751671	3	2	121	1	0	0	0	0	1	0	0	0	8996	1145	40	5	510	5	LRRC3B	3	26751671	Missense_Mutation	SNP	G	TCGA-EJ-A65F-01A-21D-A30X-08		26751671	171270759	18	6355											
CACNA2D3	55799	broad.mit.edu	37	chr3	54919587	54919587	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agaagcgattaagctctaccTaaaaggcaaagaacctctgc	16	7	8	10	1	2	2	0	0	2	2	2	3	2	2	2	1	5	2	2	1	7	3			TCGA-EJ-A65F-01A-21D-A30X-08	TCGA-EJ-A65F-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c17cad55-fb48-4813-8f26-083d3ece8ffa	17d98e3b-65f0-4395-8fdd-11ce4ccfc917	g.chr3:54919587T>A	ENST00000474759.1	+	23	2078	c.2030T>A	c.(2029-2031)cTa>cAa	p.L677Q	CACNA2D3_ENST00000288197.5_Missense_Mutation_p.L677Q|CACNA2D3_ENST00000490478.1_Missense_Mutation_p.L583Q|CACNA2D3_ENST00000415676.2_Missense_Mutation_p.L677Q|CACNA2D3-AS1_ENST00000471265.1_RNA	NM_018398.2	NP_060868.2	Q8IZS8	CA2D3_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 3	677						integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3)	59				KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)	Amlodipine(DB00381)|Nilvadipine(DB06712)|Spironolactone(DB00421)	AAGCTCTACCTAAAAGGCAAA	0.473																																						ENST00000474759.1																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3)	59						c.(2029-2031)cTa>cAa		calcium channel, voltage-dependent, alpha 2/delta subunit 3							109	103	105					3																	54919587		2038	4210	6248	SO:0001583	missense	55799					integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity	g.chr3:54919587T>A	AJ272268	CCDS54598.1	3p21.1	2010-10-05	2008-02-26		ENSG00000157445	ENSG00000157445		"Calcium channel subunits"	15460	protein-coding gene	gene with protein product		606399				11245980	Standard	XM_005265318		Approved	HSA272268	uc003dhf.3	Q8IZS8	OTTHUMG00000158580	ENST00000474759.1:c.2030T>A	3.37:g.54919587T>A	ENSP00000419101:p.Leu677Gln					CACNA2D3_ENST00000415676.2_Missense_Mutation_p.L677Q|CACNA2D3_ENST00000490478.1_Missense_Mutation_p.L583Q|CACNA2D3-AS1_ENST00000471265.1_RNA|CACNA2D3_ENST00000288197.5_Missense_Mutation_p.L677Q	p.L677Q	NM_018398.2	NP_060868.2	Q8IZS8	CA2D3_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)	23	2078	+			677					B2RPL6|Q9NY16|Q9NY18	Missense_Mutation	SNP	ENST00000474759.1	37	c.2030T>A	CCDS54598.1	.	.	.	.	.	.	.	.	.	.	T	25.1	4.605932	0.87157	.	.	ENSG00000157445	ENST00000415676;ENST00000474759;ENST00000288197;ENST00000490478;ENST00000398624	T;T;T;T	0.32515	1.45;1.45;1.45;1.45	5.7	5.7	0.88788	.	0.142734	0.48767	D	0.000180	T	0.59797	0.2220	M	0.88570	2.965	0.48288	D	0.999625	D	0.69078	0.997	D	0.64687	0.928	T	0.66646	-0.5871	10	0.52906	T	0.07	-0.0712	14.5359	0.67960	0.0:0.0:0.0:1.0	.	677	Q8IZS8	CA2D3_HUMAN	Q	677;677;677;583;583	ENSP00000389506:L677Q;ENSP00000419101:L677Q;ENSP00000288197:L677Q;ENSP00000417279:L583Q	ENSP00000288197:L677Q	L	+	2	0	CACNA2D3	54894627	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.698000	0.84413	2.178000	0.69098	0.459000	0.35465	CTA		0.473	CACNA2D3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351402.1			10	12	0	0	0	1	0	10	12					A	54919587	T	A	54919587	3	1	121	1	0	0	0	0	1	0	0	0	2550	1522	53	5	2120	5	CACNA2D3	3	54919587	Missense_Mutation	SNP	T	TCGA-EJ-A65F-01A-21D-A30X-08	28167916	54919587	143102843	19	6356											
CAMK2N2	94032	broad.mit.edu	37	chr3	183979033	183979033	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cctcggggtctgcgccgaagCggcccatcttgtcttcgctg	3	10	13	15	5	3	0	0	0	3	0	5	1	3	0	3	3	2	1	3	3	1	2			TCGA-EJ-A65F-01A-21D-A30X-08	TCGA-EJ-A65F-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c17cad55-fb48-4813-8f26-083d3ece8ffa	17d98e3b-65f0-4395-8fdd-11ce4ccfc917	g.chr3:183979033C>A	ENST00000296238.3	-	1	218	c.41G>T	c.(40-42)cGc>cTc	p.R14L	ECE2_ENST00000402825.3_Intron|EIF2B5_ENST00000444495.1_Intron	NM_033259.2	NP_150284.1	Q96S95	CK2N2_HUMAN	calcium/calmodulin-dependent protein kinase II inhibitor 2	14						cytoplasm (GO:0005737)|nucleus (GO:0005634)	calcium-dependent protein kinase inhibitor activity (GO:0008427)					all_cancers(143;1.09e-10)|Ovarian(172;0.0339)		Epithelial(37;2.51e-33)|OV - Ovarian serous cystadenocarcinoma(80;5.69e-22)			TGCGCCGAAGCGGCCCATCTT	0.736																																						ENST00000296238.3																			0											c.(40-42)cGc>cTc		calcium/calmodulin-dependent protein kinase II inhibitor 2							23	25	24					3																	183979033		2202	4300	6502	SO:0001583	missense	94032					cytosol|nucleus	protein kinase inhibitor activity	g.chr3:183979033C>A	AY037149	CCDS3257.1	3q27.1	2006-03-27			ENSG00000163888	ENSG00000163888			24197	protein-coding gene	gene with protein product		608721				11444830, 9724800	Standard	NM_033259		Approved	CaM-KIIN	uc003fnj.1	Q96S95	OTTHUMG00000156821	ENST00000296238.3:c.41G>T	3.37:g.183979033C>A	ENSP00000296238:p.Arg14Leu					ECE2_ENST00000402825.3_Intron|EIF2B5_ENST00000444495.1_Intron	p.R14L	NM_033259.2	NP_150284.1	Q96S95	CK2N2_HUMAN	Epithelial(37;2.51e-33)|OV - Ovarian serous cystadenocarcinoma(80;5.69e-22)		1	218	-	all_cancers(143;1.09e-10)|Ovarian(172;0.0339)		14						Missense_Mutation	SNP	ENST00000296238.3	37	c.41G>T	CCDS3257.1	.	.	.	.	.	.	.	.	.	.	C	15.47	2.842017	0.51057	.	.	ENSG00000163888	ENST00000296238	.	.	.	3.91	1.92	0.25849	.	0.139619	0.48767	D	0.000180	T	0.30978	0.0782	.	.	.	0.33109	D	0.540303	B	0.24483	0.104	B	0.27796	0.083	T	0.22977	-1.0201	8	0.38643	T	0.18	0.2219	3.7527	0.08573	0.0:0.5613:0.2056:0.2331	.	14	Q96S95	CK2N2_HUMAN	L	14	.	ENSP00000296238:R14L	R	-	2	0	CAMK2N2	185461727	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.349000	0.44054	0.626000	0.30322	0.563000	0.77884	CGC		0.736	CAMK2N2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346010.1	NM_033259		3	23	1	0	0.004672	1	0.00486872	3	23					A	183979033	C	A	183979033	3	1	121	1	0	0	0	0	1	0	0	0	2604	768	27	5	206	5	CAMK2N2	3	183979033	Missense_Mutation	SNP	C	TCGA-EJ-A65F-01A-21D-A30X-08	129059446	183979033	14043397	20	6357											
GP5	2814	broad.mit.edu	37	chr3	194117793	194117793	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cagccggggcagagccccaaAcacgtcgccaggcagggtct	9	3	14	15	3	1	1	0	0	1	1	2	1	1	1	4	4	3	2	4	4	1	0			TCGA-EJ-A65F-01A-21D-A30X-08	TCGA-EJ-A65F-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c17cad55-fb48-4813-8f26-083d3ece8ffa	17d98e3b-65f0-4395-8fdd-11ce4ccfc917	g.chr3:194117793A>C	ENST00000401815.1	-	1	1290	c.1219T>G	c.(1219-1221)Ttt>Gtt	p.F407V	GP5_ENST00000323007.3_Missense_Mutation_p.F407V			P40197	GPV_HUMAN	glycoprotein V (platelet)	407					blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|negative regulation of platelet activation (GO:0010544)|platelet activation (GO:0030168)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				breast(3)|central_nervous_system(2)|endometrium(2)|large_intestine(9)|lung(14)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	35	all_cancers(143;6.64e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	OV - Ovarian serous cystadenocarcinoma(49;7.38e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.06e-05)		AGAGCCCCAAACACGTCGCCA	0.697																																						ENST00000401815.1																			0				breast(3)|central_nervous_system(2)|endometrium(2)|large_intestine(9)|lung(14)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	35						c.(1219-1221)Ttt>Gtt		glycoprotein V (platelet)							12	15	14					3																	194117793		2179	4268	6447	SO:0001583	missense	2814				blood coagulation, intrinsic pathway|cell adhesion|platelet activation	integral to plasma membrane		g.chr3:194117793A>C	L11238	CCDS3307.1	3q29	2008-02-01			ENSG00000178732	ENSG00000178732		"CD molecules"	4443	protein-coding gene	gene with protein product		173511				7690959	Standard	NM_004488		Approved	CD42d	uc003ftv.1	P40197	OTTHUMG00000150345	ENST00000401815.1:c.1219T>G	3.37:g.194117793A>C	ENSP00000383931:p.Phe407Val					GP5_ENST00000323007.3_Missense_Mutation_p.F407V	p.F407V			P40197	GPV_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;7.38e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.06e-05)	1	1290	-	all_cancers(143;6.64e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	407					D1MER9	Missense_Mutation	SNP	ENST00000401815.1	37	c.1219T>G	CCDS3307.1	.	.	.	.	.	.	.	.	.	.	A	16.22	3.061848	0.55432	.	.	ENSG00000178732	ENST00000401815;ENST00000323007	T;T	0.70164	-0.46;-0.46	3.76	3.76	0.43208	.	0.000000	0.40818	N	0.001016	D	0.87237	0.6127	H	0.98048	4.135	0.09310	N	1	D	0.76494	0.999	D	0.72982	0.979	T	0.81362	-0.0967	10	0.56958	D	0.05	.	13.1502	0.59484	1.0:0.0:0.0:0.0	.	407	P40197	GPV_HUMAN	V	407	ENSP00000383931:F407V;ENSP00000319286:F407V	ENSP00000319286:F407V	F	-	1	0	GP5	195599082	0.967000	0.33354	0.040000	0.18447	0.687000	0.40016	3.019000	0.49635	1.658000	0.50742	0.397000	0.26171	TTT		0.697	GP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317710.1	NM_004488		4	7	0	0	0	1	0	4	7					C	194117793	A	C	194117793	3	2	121	1	0	0	0	0	1	0	0	0	6583	43	2	5	467	5	GP5	3	194117793	Missense_Mutation	SNP	A	TCGA-EJ-A65F-01A-21D-A30X-08	10138760	194117793	3904637	21	6358											
TACR3	6870	broad.mit.edu	37	chr4	104577479	104577479	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caatgggaaacagtacaccaGtataatgacgataatatggt	17	9	9	6	1	0	1	0	1	0	0	0	3	0	2	1	2	2	2	1	2	7	5			TCGA-EJ-A65F-01A-21D-A30X-08	TCGA-EJ-A65F-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c17cad55-fb48-4813-8f26-083d3ece8ffa	17d98e3b-65f0-4395-8fdd-11ce4ccfc917	g.chr4:104577479G>A	ENST00000304883.2	-	3	900	c.760C>T	c.(760-762)Ctg>Ttg	p.L254L		NM_001059.2	NP_001050.1	P29371	NK3R_HUMAN	tachykinin receptor 3	254					aging (GO:0007568)|hyperosmotic salinity response (GO:0042538)|positive regulation of blood pressure (GO:0045777)|positive regulation of heart rate (GO:0010460)|positive regulation of uterine smooth muscle contraction (GO:0070474)|regulation of dopamine metabolic process (GO:0042053)|regulation of feeding behavior (GO:0060259)|response to cocaine (GO:0042220)|response to estradiol (GO:0032355)|response to morphine (GO:0043278)|tachykinin receptor signaling pathway (GO:0007217)	cytoplasm (GO:0005737)|dendrite membrane (GO:0032590)|integral component of plasma membrane (GO:0005887)|neuronal cell body membrane (GO:0032809)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	tachykinin receptor activity (GO:0004995)			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51		Hepatocellular(203;0.217)		UCEC - Uterine corpus endometrioid carcinoma (10;0.22)|OV - Ovarian serous cystadenocarcinoma(123;3.4e-08)		CAGTACACCAGTATAATGACG	0.378																																						ENST00000304883.2																			0				breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51						c.(760-762)Ctg>Ttg		tachykinin receptor 3							100	97	98					4																	104577479		2203	4300	6503	SO:0001819	synonymous_variant	6870					integral to plasma membrane	tachykinin receptor activity	g.chr4:104577479G>A	M89473	CCDS3664.1	4q25	2012-08-08			ENSG00000169836	ENSG00000169836		"GPCR / Class A : Tachykinin receptors"	11528	protein-coding gene	gene with protein product	"neurokinin beta receptor"	162332				1374246	Standard	NM_001059		Approved	NK3R	uc003hxe.1	P29371	OTTHUMG00000131124	ENST00000304883.2:c.760C>T	4.37:g.104577479G>A							p.L254L	NM_001059.2	NP_001050.1	P29371	NK3R_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (10;0.22)|OV - Ovarian serous cystadenocarcinoma(123;3.4e-08)	3	900	-		Hepatocellular(203;0.217)	254					Q0P510	Silent	SNP	ENST00000304883.2	37	c.760C>T	CCDS3664.1																																																																																				0.378	TACR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253804.1	NM_001059		24	46	0	0	0	1	0	24	46					A	104577479	G	A	104577479	2	1	121	1	0	0	0	0	0	0	0	1	15504	1020	36	3		3	TACR3	4	104577479	Silent	SNP	G	TCGA-EJ-A65F-01A-21D-A30X-08		104577479	86576797	22	6359											
IL21	59067	broad.mit.edu	37	chr4	123534028	123534028	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tttggagaagtgatttgaatCtttctaggaattctttgggt	9	18	11	3	0	3	3	0	2	3	1	3	5	3	4	0	3	0	0	0	3	4	6			TCGA-EJ-A65F-01A-21D-A30X-08	TCGA-EJ-A65F-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c17cad55-fb48-4813-8f26-083d3ece8ffa	17d98e3b-65f0-4395-8fdd-11ce4ccfc917	g.chr4:123534028C>T	ENST00000264497.3	-	4	473	c.416G>A	c.(415-417)aGa>aAa	p.R139K		NM_001207006.2|NM_021803.3	NP_001193935.1|NP_068575.1	Q9HBE4	IL21_HUMAN	interleukin 21	132					cell maturation (GO:0048469)|immune response (GO:0006955)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cell proliferation (GO:0008284)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-17 production (GO:0032740)|positive regulation of natural killer cell cytokine production (GO:0002729)|positive regulation of natural killer cell differentiation (GO:0032825)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of tissue remodeling (GO:0034105)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|signal transduction (GO:0007165)	extracellular space (GO:0005615)	cytokine receptor binding (GO:0005126)|interleukin-2 receptor binding (GO:0005134)			NS(1)|kidney(1)|large_intestine(2)|liver(1)|lung(3)	8						TGATTTGAATCTTTCTAGGAA	0.313																																						ENST00000264497.3																			0				NS(1)|kidney(1)|large_intestine(2)|liver(1)|lung(3)	8						c.(415-417)aGa>aAa		interleukin 21							85	92	90					4																	123534028		2203	4300	6503	SO:0001583	missense	59067				cell maturation|immune response|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-17 production|positive regulation of T cell proliferation|signal transduction	extracellular space	cytokine activity|interleukin-2 receptor binding	g.chr4:123534028C>T	AF254069	CCDS3727.1, CCDS75189.1	4q26-q27	2011-07-15			ENSG00000138684	ENSG00000138684		"Interleukins and interleukin receptors"	6005	protein-coding gene	gene with protein product		605384				11081504, 17947662	Standard	NM_001207006		Approved	Za11, IL-21	uc003ies.3	Q9HBE4	OTTHUMG00000133073	ENST00000264497.3:c.416G>A	4.37:g.123534028C>T	ENSP00000264497:p.Arg139Lys						p.R139K	NM_001207006.2|NM_021803.3	NP_001193935.1|NP_068575.1	Q9HBE4	IL21_HUMAN			4	473	-			132					A5J0L4	Missense_Mutation	SNP	ENST00000264497.3	37	c.416G>A	CCDS3727.1	.	.	.	.	.	.	.	.	.	.	C	16.68	3.190939	0.58017	.	.	ENSG00000138684	ENST00000264497	.	.	.	4.81	3.09	0.35607	.	0.333481	0.25581	N	0.029691	T	0.55033	0.1895	M	0.62723	1.935	0.31821	N	0.625987	P;B	0.35456	0.502;0.372	B;P	0.46850	0.394;0.529	T	0.57323	-0.7831	9	0.22706	T	0.39	-4.6511	8.1838	0.31326	0.0:0.8123:0.0:0.1877	.	132;132	Q9HBE4-2;Q9HBE4	.;IL21_HUMAN	K	139	.	ENSP00000264497:R139K	R	-	2	0	IL21	123753478	1.000000	0.71417	0.776000	0.31678	0.976000	0.68499	2.410000	0.44592	0.459000	0.27016	0.467000	0.42956	AGA		0.313	IL21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256713.1	NM_021803		11	12	0	0	0	1	0	11	12					T	123534028	C	T	123534028	3	4	121	1	0	0	0	0	1	0	0	0	7670	913	32	3	80	3	IL21	4	123534028	Missense_Mutation	SNP	C	TCGA-EJ-A65F-01A-21D-A30X-08	18956549	123534028	67620248	23	6360											
KLHL2	11275	broad.mit.edu	37	chr4	166238998	166238998	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gagtttgtgcagttaatggtCtgttatatgttgttggaggg	7	17	15	2	0	1	0	0	0	1	0	1	2	1	1	0	3	1	6	0	3	3	6			TCGA-EJ-A65F-01A-21D-A30X-08	TCGA-EJ-A65F-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c17cad55-fb48-4813-8f26-083d3ece8ffa	17d98e3b-65f0-4395-8fdd-11ce4ccfc917	g.chr4:166238998C>G	ENST00000226725.6	+	14	1889	c.1630C>G	c.(1630-1632)Ctg>Gtg	p.L544V	KLHL2_ENST00000506761.1_Missense_Mutation_p.L378V|KLHL2_ENST00000421009.2_Missense_Mutation_p.L447V|KLHL2_ENST00000538127.1_Missense_Mutation_p.L456V|KLHL2_ENST00000509028.1_3'UTR|KLHL2_ENST00000514860.1_Missense_Mutation_p.L548V	NM_007246.3	NP_009177.3	O95198	KLHL2_HUMAN	kelch-like family member 2	544					protein ubiquitination (GO:0016567)	actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)	actin binding (GO:0003779)			endometrium(3)|large_intestine(5)|lung(4)|prostate(1)|urinary_tract(1)	14	all_hematologic(180;0.221)			GBM - Glioblastoma multiforme(119;2.94e-27)|COAD - Colon adenocarcinoma(41;1.4e-05)|Kidney(143;4.95e-05)|KIRC - Kidney renal clear cell carcinoma(143;0.000927)		AGTTAATGGTCTGTTATATGT	0.348																																						ENST00000226725.6																			0				endometrium(3)|large_intestine(5)|lung(4)|prostate(1)|urinary_tract(1)	14						c.(1630-1632)Ctg>Gtg		kelch-like family member 2							157	152	154					4																	166238998		2203	4300	6503	SO:0001583	missense	11275				intracellular protein transport	actin cytoskeleton|cytoplasm	actin binding|transporter activity	g.chr4:166238998C>G	AF059569	CCDS34094.1, CCDS54815.1, CCDS54816.1	4q21.2	2013-01-30	2013-01-30		ENSG00000109466	ENSG00000109466		"Kelch-like", "BTB/POZ domain containing"	6353	protein-coding gene	gene with protein product	"mayven"	605774	"kelch (Drosophila)-like 2 (Mayven)", "kelch-like 2, Mayven (Drosophila)"			10397770, 16035103	Standard	NM_007246		Approved	MAV	uc011cjm.2	O95198	OTTHUMG00000161294	ENST00000226725.6:c.1630C>G	4.37:g.166238998C>G	ENSP00000226725:p.Leu544Val					KLHL2_ENST00000421009.2_Missense_Mutation_p.L447V|KLHL2_ENST00000514860.1_Missense_Mutation_p.L548V|KLHL2_ENST00000538127.1_Missense_Mutation_p.L456V|KLHL2_ENST00000506761.1_Missense_Mutation_p.L378V|KLHL2_ENST00000509028.1_3'UTR	p.L544V	NM_007246.3	NP_009177.3	O95198	KLHL2_HUMAN		GBM - Glioblastoma multiforme(119;2.94e-27)|COAD - Colon adenocarcinoma(41;1.4e-05)|Kidney(143;4.95e-05)|KIRC - Kidney renal clear cell carcinoma(143;0.000927)	14	1889	+	all_hematologic(180;0.221)		544					A6NCM7|B2RD18|B4DFH7|F5H6M3|Q8N484|Q8TBH5	Missense_Mutation	SNP	ENST00000226725.6	37	c.1630C>G	CCDS34094.1	.	.	.	.	.	.	.	.	.	.	C	11.85	1.761977	0.31228	.	.	ENSG00000109466	ENST00000226725;ENST00000514860;ENST00000538127;ENST00000421009;ENST00000506761	T;T;T;T;T	0.77620	-1.11;-1.11;-1.11;-1.11;-1.11	6.17	4.45	0.53987	Galactose oxidase, beta-propeller (1);	0.152097	0.45126	D	0.000393	T	0.73079	0.3541	L	0.53249	1.67	0.58432	D	0.999999	B;B;B	0.17667	0.013;0.006;0.023	B;B;B	0.31016	0.086;0.044;0.123	T	0.71974	-0.4430	10	0.72032	D	0.01	.	7.3339	0.26599	0.1377:0.7253:0.0:0.137	.	548;544;544	B4DFH7;B2RD18;O95198	.;.;KLHL2_HUMAN	V	544;548;456;447;378	ENSP00000226725:L544V;ENSP00000424198:L548V;ENSP00000437526:L456V;ENSP00000408974:L447V;ENSP00000424108:L378V	ENSP00000226725:L544V	L	+	1	2	KLHL2	166458448	0.157000	0.22836	1.000000	0.80357	0.998000	0.95712	0.515000	0.22801	1.631000	0.50456	0.655000	0.94253	CTG		0.348	KLHL2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000364439.1			4	82	0	0	0	1	0	4	82					G	166238998	C	G	166238998	3	3	121	1	0	0	0	0	1	0	0	0	8374	912	32	5	1726	5	KLHL2	4	166238998	Missense_Mutation	SNP	C	TCGA-EJ-A65F-01A-21D-A30X-08	42704970	166238998	24915278	24	6361											
IQGAP2	10788	broad.mit.edu	37	chr5	76003079	76003079	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	taatgaaaatgtttgataagGttaaagtgaatgtaaacctt	17	14	8	2	0	0	3	0	3	0	0	0	3	0	3	1	1	1	3	1	1	9	6			TCGA-EJ-A65F-01A-21D-A30X-08	TCGA-EJ-A65F-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c17cad55-fb48-4813-8f26-083d3ece8ffa	17d98e3b-65f0-4395-8fdd-11ce4ccfc917	g.chr5:76003079G>C	ENST00000274364.6	+	36	4966	c.4669G>C	c.(4669-4671)Gtt>Ctt	p.V1557L	IQGAP2_ENST00000502745.1_Missense_Mutation_p.V1053L|IQGAP2_ENST00000396234.3_Missense_Mutation_p.V1053L|IQGAP2_ENST00000379730.3_Missense_Mutation_p.V1059L|CTD-2384B11.2_ENST00000507514.1_RNA|IQGAP2_ENST00000508410.1_3'UTR	NM_006633.2	NP_006624	Q13576	IQGA2_HUMAN	IQ motif containing GTPase activating protein 2	1557					negative regulation of catalytic activity (GO:0043086)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|microvillus (GO:0005902)	actin binding (GO:0003779)|GTPase inhibitor activity (GO:0005095)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|Ras GTPase activator activity (GO:0005099)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(23)|ovary(6)|prostate(1)|skin(3)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	68		all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149)		all cancers(79;1.38e-36)		GTTTGATAAGGTTAAAGTGAA	0.323																																						ENST00000274364.6																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(23)|ovary(6)|prostate(1)|skin(3)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	68						c.(4669-4671)Gtt>Ctt		IQ motif containing GTPase activating protein 2							89	89	89					5																	76003079		2203	4299	6502	SO:0001583	missense	10788				small GTPase mediated signal transduction	actin cytoskeleton	actin binding|calmodulin binding|GTPase inhibitor activity|Ras GTPase activator activity	g.chr5:76003079G>C	U51903	CCDS34188.1, CCDS68897.1, CCDS68898.1, CCDS75262.1	5q	2008-07-18			ENSG00000145703	ENSG00000145703			6111	protein-coding gene	gene with protein product		605401				8756646	Standard	XM_005248409		Approved		uc003kek.3	Q13576	OTTHUMG00000162432	ENST00000274364.6:c.4669G>C	5.37:g.76003079G>C	ENSP00000274364:p.Val1557Leu					CTD-2384B11.2_ENST00000507514.1_RNA|IQGAP2_ENST00000508410.1_3'UTR|IQGAP2_ENST00000502745.1_Missense_Mutation_p.V1053L|IQGAP2_ENST00000396234.3_Missense_Mutation_p.V1053L|IQGAP2_ENST00000379730.3_Missense_Mutation_p.V1059L	p.V1557L	NM_006633.2	NP_006624.2	Q13576	IQGA2_HUMAN		all cancers(79;1.38e-36)	36	4966	+		all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149)	1557					A8K4V1|B7Z8A4|J3KR91	Missense_Mutation	SNP	ENST00000274364.6	37	c.4669G>C	CCDS34188.1	.	.	.	.	.	.	.	.	.	.	G	19.51	3.841619	0.71488	.	.	ENSG00000145703	ENST00000274364;ENST00000379730;ENST00000396234;ENST00000502745	T;T;T;T	0.03065	4.21;4.06;4.06;4.06	5.33	5.33	0.75918	.	0.110239	0.64402	D	0.000010	T	0.04227	0.0117	N	0.17594	0.5	0.49213	D	0.999768	P;P;B	0.35481	0.504;0.504;0.208	B;B;B	0.38755	0.281;0.281;0.101	T	0.61019	-0.7147	10	0.23891	T	0.37	-24.3097	19.3576	0.94421	0.0:0.0:1.0:0.0	.	1059;1053;1557	F5H7S7;Q13576-2;Q13576	.;.;IQGA2_HUMAN	L	1557;1059;1053;1053	ENSP00000274364:V1557L;ENSP00000442313:V1059L;ENSP00000379535:V1053L;ENSP00000426027:V1053L	ENSP00000274364:V1557L	V	+	1	0	IQGAP2	76038835	1.000000	0.71417	0.999000	0.59377	0.982000	0.71751	9.813000	0.99286	2.657000	0.90304	0.591000	0.81541	GTT		0.323	IQGAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368877.1	NM_006633		13	23	0	0	0	1	0	13	23					C	76003079	G	C	76003079	3	2	121	1	0	0	0	0	1	0	0	0	7815	1261	44	5	4811	5	IQGAP2	5	76003079	Missense_Mutation	SNP	G	TCGA-EJ-A65F-01A-21D-A30X-08		76003079	104912181	25	6362											
CHD1	1105	broad.mit.edu	37	chr5	98230355	98230355	+	Frame_Shift_Del	DEL	T	T	-																															aatatattaaattttaaccgTttggtctgatgatgcgtcca																										TCGA-EJ-A65F-01A-21D-A30X-08	TCGA-EJ-A65F-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c17cad55-fb48-4813-8f26-083d3ece8ffa	17d98e3b-65f0-4395-8fdd-11ce4ccfc917	g.chr5:98230355delT	ENST00000284049.3	-	12	1895	c.1746delA	c.(1744-1746)aaafs	p.K582fs		NM_001270.2	NP_001261.2	O14646	CHD1_HUMAN	chromodomain helicase DNA binding protein 1	582	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|methylated histone binding (GO:0035064)			NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	49		all_cancers(142;5.36e-08)|all_epithelial(76;6.97e-11)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|all_lung(232;0.00119)|Ovarian(225;0.024)|Colorectal(57;0.117)		COAD - Colon adenocarcinoma(37;0.0717)	Epirubicin(DB00445)	ATTTTAACCGTTTGGTCTGAT	0.259																																						ENST00000284049.3																			0				NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	49						c.(1744-1746)aafs		chromodomain helicase DNA binding protein 1	Epirubicin(DB00445)						23	24	24					5																	98230355		2191	4277	6468	SO:0001589	frameshift_variant	1105				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|methylated histone residue binding	g.chr5:98230355delT	AF006513	CCDS34204.1	5q15-q21	2008-07-18			ENSG00000153922	ENSG00000153922			1915	protein-coding gene	gene with protein product		602118				8460153, 9326634	Standard	XM_005271866		Approved		uc003knf.3	O14646	OTTHUMG00000162744	ENST00000284049.3:c.1746delA	5.37:g.98230355delT	ENSP00000284049:p.Lys582fs						p.K582fs	NM_001270.2	NP_001261.2	O14646	CHD1_HUMAN		COAD - Colon adenocarcinoma(37;0.0717)	12	1895	-		all_cancers(142;5.36e-08)|all_epithelial(76;6.97e-11)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|all_lung(232;0.00119)|Ovarian(225;0.024)|Colorectal(57;0.117)	582			Helicase ATP-binding.		Q17RZ3	Frame_Shift_Del	DEL	ENST00000284049.3	37	c.1746delA	CCDS34204.1																																																																																				0.259	CHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370295.1	NM_001270		2	4						2	4	---	---	---	---	-	98230355	T	-	98230355	7	5	121	1	0	1	0	1	0	0	0	0	3323	1722	60	0	3482	0	CHD1	5	98230355	Frame_Shift_Del	DEL	T	TCGA-EJ-A65F-01A-21D-A30X-08	22227276	98230355	82684905	26	6363											
CYFIP2	26999	broad.mit.edu	37	chr5	156734848	156734848	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgccaagaagagaattaatcTtagcaaaattgataaattct	18	12	6	5	0	2	3	0	1	2	2	2	4	2	3	1	0	2	1	1	0	9	5			TCGA-EJ-A65F-01A-21D-A30X-08	TCGA-EJ-A65F-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c17cad55-fb48-4813-8f26-083d3ece8ffa	17d98e3b-65f0-4395-8fdd-11ce4ccfc917	g.chr5:156734848T>G	ENST00000521420.1	+	8	888	c.797T>G	c.(796-798)cTt>cGt	p.L266R	CYFIP2_ENST00000522463.1_Missense_Mutation_p.L96R|CYFIP2_ENST00000347377.6_Missense_Mutation_p.L292R|CYFIP2_ENST00000377576.3_Missense_Mutation_p.L292R|CYFIP2_ENST00000318218.6_Missense_Mutation_p.L292R|CYFIP2_ENST00000442283.2_5'UTR|CYFIP2_ENST00000541131.1_Missense_Mutation_p.L217R					cytoplasmic FMR1 interacting protein 2											breast(1)|endometrium(12)|kidney(2)|lung(23)	38	Renal(175;0.00212)	Medulloblastoma(196;0.0306)|all_neural(177;0.0897)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			AGAATTAATCTTAGCAAAATT	0.463																																						ENST00000347377.6																			0				breast(1)|endometrium(12)|kidney(2)|lung(23)	38						c.(874-876)cTt>cGt		cytoplasmic FMR1 interacting protein 2							55	51	52					5																	156734848		1835	4084	5919	SO:0001583	missense	26999				apoptosis|cell-cell adhesion	cell junction|perinuclear region of cytoplasm|synapse|synaptosome	protein binding	g.chr5:156734848T>G	AF160973	CCDS75364.1	5q34	2008-07-18				ENSG00000055163			13760	protein-coding gene	gene with protein product	"p53 inducible protein"	606323				11438699	Standard	NM_001037333		Approved	PIR121	uc021ygm.1	Q96F07		ENST00000521420.1:c.797T>G	5.37:g.156734848T>G	ENSP00000430904:p.Leu266Arg					CYFIP2_ENST00000377576.3_Missense_Mutation_p.L292R|CYFIP2_ENST00000318218.6_Missense_Mutation_p.L292R|CYFIP2_ENST00000541131.1_Missense_Mutation_p.L217R|CYFIP2_ENST00000522463.1_Missense_Mutation_p.L96R|CYFIP2_ENST00000521420.1_Missense_Mutation_p.L266R|CYFIP2_ENST00000442283.2_5'UTR	p.L292R	NM_001037332.2	NP_001032409.2	Q96F07	CYFP2_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		9	1306	+	Renal(175;0.00212)	Medulloblastoma(196;0.0306)|all_neural(177;0.0897)	292						Missense_Mutation	SNP	ENST00000521420.1	37	c.875T>G		.	.	.	.	.	.	.	.	.	.	T	28.6	4.931074	0.92389	.	.	ENSG00000055163	ENST00000318218;ENST00000522463;ENST00000521420;ENST00000347377;ENST00000377576;ENST00000541131	T;T;T;T;T;T	0.44083	0.93;1.87;0.93;0.93;0.93;0.93	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	T	0.62011	0.2393	M	0.65975	2.015	0.80722	D	1	D;D;D;D;D;D	0.64830	0.966;0.977;0.96;0.981;0.994;0.98	D;P;P;P;D;D	0.66497	0.932;0.905;0.779;0.77;0.935;0.944	T	0.65990	-0.6034	10	0.87932	D	0	-17.5668	15.6034	0.76642	0.0:0.0:0.0:1.0	.	156;96;266;292;292;292	A8MUM2;E7EW33;E7EVJ5;E7EVF4;Q96F07-2;Q96F07	.;.;.;.;.;CYFP2_HUMAN	R	292;96;266;292;292;217	ENSP00000325817:L292R;ENSP00000428009:L96R;ENSP00000430904:L266R;ENSP00000313567:L292R;ENSP00000366799:L292R;ENSP00000444645:L217R	ENSP00000325817:L292R	L	+	2	0	CYFIP2	156667426	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.997000	0.88414	2.094000	0.63399	0.459000	0.35465	CTT		0.463	CYFIP2-001	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000373710.1	NM_001037332		3	11	0	0	0	1	0	3	11					G	156734848	T	G	156734848	3	3	121	1	0	0	0	0	1	0	0	0	4138	1609	56	5	905	5	CYFIP2	5	156734848	Missense_Mutation	SNP	T	TCGA-EJ-A65F-01A-21D-A30X-08	58504493	156734848	24180412	27	6364											
CDYL	9425	broad.mit.edu	37	chr6	4935754	4935754	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaaactctcggcaggtacaTctccgttcatggatgcatta	10	12	8	11	2	4	0	2	0	2	0	6	1	4	1	1	3	3	4	1	3	3	3			TCGA-EJ-A65F-01A-21D-A30X-08	TCGA-EJ-A65F-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c17cad55-fb48-4813-8f26-083d3ece8ffa	17d98e3b-65f0-4395-8fdd-11ce4ccfc917	g.chr6:4935754T>C	ENST00000328908.5	+	5	990	c.859T>C	c.(859-861)Tct>Cct	p.S287P	CDYL_ENST00000449732.2_Missense_Mutation_p.S101P|CDYL_ENST00000343762.5_Missense_Mutation_p.S101P|CDYL_ENST00000472453.1_3'UTR|CDYL_ENST00000397588.3_Missense_Mutation_p.S233P			Q9Y232	CDYL1_HUMAN	chromodomain protein, Y-like	287	Interaction with EZH2.				regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	histone acetyltransferase activity (GO:0004402)|methylated histone binding (GO:0035064)|transcription corepressor activity (GO:0003714)			breast(2)|kidney(2)|large_intestine(9)|lung(13)|skin(1)|stomach(2)|urinary_tract(1)	30	Ovarian(93;0.11)	all_hematologic(90;0.0901)|Lung NSC(90;0.244)		OV - Ovarian serous cystadenocarcinoma(45;0.182)		GGCAGGTACATCTCCGTTCAT	0.438																																						ENST00000328908.5																			0				breast(2)|kidney(2)|large_intestine(9)|lung(13)|skin(1)|stomach(2)|urinary_tract(1)	30						c.(859-861)Tct>Cct		chromodomain protein, Y-like							59	55	56					6																	4935754		2203	4300	6503	SO:0001583	missense	9425				regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	nucleus	histone acetyltransferase activity	g.chr6:4935754T>C	AF081258	CCDS4491.2, CCDS47364.1	6p25.1	2010-05-04	2003-09-12		ENSG00000153046	ENSG00000153046			1811	protein-coding gene	gene with protein product	"CDY-like, autosomal", "testis-specific chromodomain Y-like protein"	603778	"chromodomain protein, Y chromosome-like"			10192397	Standard	NM_001143970		Approved	DKFZP586C1622, CDYL1	uc003mwj.3	Q9Y232	OTTHUMG00000014170	ENST00000328908.5:c.859T>C	6.37:g.4935754T>C	ENSP00000330512:p.Ser287Pro					CDYL_ENST00000472453.1_3'UTR|CDYL_ENST00000343762.5_Missense_Mutation_p.S101P|CDYL_ENST00000449732.2_Missense_Mutation_p.S101P|CDYL_ENST00000397588.3_Missense_Mutation_p.S233P	p.S287P			Q9Y232	CDYL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(45;0.182)	5	990	+	Ovarian(93;0.11)	all_hematologic(90;0.0901)|Lung NSC(90;0.244)	287					A8K6D6|B4DLG4|Q0VDG7|Q32NC5|Q5VX99|Q6P7T5|Q9BWZ2|Q9Y424	Missense_Mutation	SNP	ENST00000328908.5	37	c.859T>C		.	.	.	.	.	.	.	.	.	.	T	15.78	2.933118	0.52866	.	.	ENSG00000153046	ENST00000328908;ENST00000440139;ENST00000397588;ENST00000449732;ENST00000343762	T;T;T;T	0.57752	0.76;0.38;0.38;0.38	6.07	6.07	0.98685	.	0.268407	0.36893	N	0.002347	T	0.34716	0.0907	L	0.57536	1.79	0.58432	D	0.999999	B;B	0.14012	0.004;0.009	B;B	0.09377	0.004;0.004	T	0.32295	-0.9912	10	0.48119	T	0.1	.	11.644	0.51250	0.0:0.0704:0.0:0.9296	.	233;287	Q9Y232-2;Q9Y232	.;CDYL1_HUMAN	P	287;13;233;101;101	ENSP00000330512:S287P;ENSP00000380718:S233P;ENSP00000394076:S101P;ENSP00000340908:S101P	ENSP00000330512:S287P	S	+	1	0	CDYL	4880753	1.000000	0.71417	0.877000	0.34402	0.964000	0.63967	3.324000	0.52022	2.326000	0.78906	0.533000	0.62120	TCT		0.438	CDYL-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000039736.1	NM_004824		19	58	0	0	0	1	0	19	58					C	4935754	T	C	4935754	3	2	121	1	0	0	0	0	1	0	0	0	3185	1435	50	4	707	4	CDYL	6	4935754	Missense_Mutation	SNP	T	TCGA-EJ-A65F-01A-21D-A30X-08		4935754	166179313	28	6365											
DSP	1832	broad.mit.edu	37	chr6	7583503	7583503	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggggaagaagtcagtggaagAagttgcttctgaaatccagc	13	8	14	6	0	2	3	1	1	1	2	3	5	3	5	1	3	2	2	1	3	5	2			TCGA-EJ-A65F-01A-21D-A30X-08	TCGA-EJ-A65F-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c17cad55-fb48-4813-8f26-083d3ece8ffa	17d98e3b-65f0-4395-8fdd-11ce4ccfc917	g.chr6:7583503A>G	ENST00000379802.3	+	24	6349	c.6008A>G	c.(6007-6009)gAa>gGa	p.E2003G	DSP_ENST00000418664.2_Missense_Mutation_p.E1404G	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	2003	4.5 X 38 AA tandem repeats (Domain A).|Globular 2.				adherens junction organization (GO:0034332)|apoptotic process (GO:0006915)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|desmosome organization (GO:0002934)|epidermis development (GO:0008544)|intermediate filament organization (GO:0045109)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)|protein localization to adherens junction (GO:0071896)|regulation of heart rate by cardiac conduction (GO:0086091)|single organismal cell-cell adhesion (GO:0016337)|ventricular cardiac muscle cell action potential (GO:0086005)|ventricular compact myocardium morphogenesis (GO:0003223)|wound healing (GO:0042060)	basolateral plasma membrane (GO:0016323)|cornified envelope (GO:0001533)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intercalated disc (GO:0014704)|intermediate filament (GO:0005882)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|protein binding, bridging (GO:0030674)|protein kinase C binding (GO:0005080)|scaffold protein binding (GO:0097110)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		TCAGTGGAAGAAGTTGCTTCT	0.478																																						ENST00000379802.3																			0				biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101						c.(6007-6009)gAa>gGa		desmoplakin							77	83	81					6																	7583503		2203	4300	6503	SO:0001583	missense	1832				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton	g.chr6:7583503A>G	J05211	CCDS4501.1, CCDS47368.1	6p24.3	2014-09-17	2003-05-20		ENSG00000096696	ENSG00000096696			3052	protein-coding gene	gene with protein product		125647	"desmoplakin (DPI, DPII)"			1889810	Standard	NM_004415		Approved	KPPS2, PPKS2, DPI, DPII	uc003mxp.1	P15924	OTTHUMG00000014212	ENST00000379802.3:c.6008A>G	6.37:g.7583503A>G	ENSP00000369129:p.Glu2003Gly					DSP_ENST00000418664.2_Missense_Mutation_p.E1404G	p.E2003G	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN		OV - Ovarian serous cystadenocarcinoma(45;0.000508)	24	6349	+	Ovarian(93;0.0584)	all_hematologic(90;0.236)	2003			Globular 2.		B2RTT2|D7RX09|O75993|Q14189|Q9UHN4	Missense_Mutation	SNP	ENST00000379802.3	37	c.6008A>G	CCDS4501.1	.	.	.	.	.	.	.	.	.	.	A	20.6	4.016078	0.75161	.	.	ENSG00000096696	ENST00000379802;ENST00000418664	T;T	0.71222	-0.55;-0.55	4.99	4.99	0.66335	.	0.000000	0.64402	D	0.000016	T	0.80819	0.4696	M	0.81682	2.555	0.39883	D	0.973664	D;B	0.89917	1.0;0.384	D;B	0.71414	0.973;0.07	D	0.84531	0.0633	10	0.72032	D	0.01	.	14.9779	0.71289	1.0:0.0:0.0:0.0	.	1451;2003	Q4LE79;P15924	.;DESP_HUMAN	G	2003;1404	ENSP00000369129:E2003G;ENSP00000396591:E1404G	ENSP00000369129:E2003G	E	+	2	0	DSP	7528502	1.000000	0.71417	0.991000	0.47740	0.993000	0.82548	9.213000	0.95133	1.984000	0.57885	0.533000	0.62120	GAA		0.478	DSP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039786.2	NM_004415		25	36	0	0	0	1	0	25	36					G	7583503	A	G	7583503	3	3	121	1	0	0	0	0	1	0	0	0	4781	246	9	4	6102	4	DSP	6	7583503	Missense_Mutation	SNP	A	TCGA-EJ-A65F-01A-21D-A30X-08	2647749	7583503	163531564	29	6366											
EPHA7	2045	broad.mit.edu	37	chr6	93953242	93953242	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atgaccaaccagtgtgatccCtaaactcatcacatccctga	13	9	5	14	0	2	3	2	3	0	0	4	3	4	3	4	0	2	0	4	0	3	1	rs560174275		TCGA-EJ-A65F-01A-21D-A30X-08	TCGA-EJ-A65F-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c17cad55-fb48-4813-8f26-083d3ece8ffa	17d98e3b-65f0-4395-8fdd-11ce4ccfc917	g.chr6:93953242C>T	ENST00000369303.4	-	17	3083	c.2899G>A	c.(2899-2901)Ggg>Agg	p.G967R		NM_004440.3	NP_004431.1	Q15375	EPHA7_HUMAN	EPH receptor A7	967	SAM. {ECO:0000255|PROSITE- ProRule:PRU00184}.				brain development (GO:0007420)|branching morphogenesis of a nerve (GO:0048755)|ephrin receptor signaling pathway (GO:0048013)|negative chemotaxis (GO:0050919)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of neuron apoptotic process (GO:0043525)|regulation of cell-cell adhesion (GO:0022407)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|regulation of protein autophosphorylation (GO:0031952)|retinal ganglion cell axon guidance (GO:0031290)	dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|chemorepellent activity (GO:0045499)|GPI-linked ephrin receptor activity (GO:0005004)|protein tyrosine kinase activity (GO:0004713)			NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)		BRCA - Breast invasive adenocarcinoma(108;0.0847)		AGTGTGATCCCTAAACTCATC	0.353													C|||	1	0.000199681	8e-04	0	5008	,	,		19806	0		0	False		,,,				2504	0					ENST00000369303.4																			0				NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112						c.(2899-2901)Ggg>Agg		EPH receptor A7							234	196	209					6																	93953242		2203	4300	6503	SO:0001583	missense	2045					integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr6:93953242C>T	L36642	CCDS5031.1, CCDS75494.1	6q16.3	2013-02-11	2004-10-28		ENSG00000135333	ENSG00000135333		"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3390	protein-coding gene	gene with protein product		602190	"EphA7"			9267020	Standard	NM_004440		Approved	Hek11	uc003poe.3	Q15375	OTTHUMG00000015228	ENST00000369303.4:c.2899G>A	6.37:g.93953242C>T	ENSP00000358309:p.Gly967Arg						p.G967R	NM_004440.3	NP_004431.1	Q15375	EPHA7_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0847)	17	3083	-		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)	967			SAM.		A0AUX7|B2R8W1|B7ZLJ9|B7ZLK0|Q59G40|Q5VTU0|Q8N368|Q9H124	Missense_Mutation	SNP	ENST00000369303.4	37	c.2899G>A	CCDS5031.1	.	.	.	.	.	.	.	.	.	.	C	18.34	3.603440	0.66445	.	.	ENSG00000135333	ENST00000369303	T	0.63096	-0.02	5.79	5.79	0.91817	Sterile alpha motif domain (2);Sterile alpha motif/pointed domain (2);Sterile alpha motif, type 2 (1);	0.000000	0.85682	D	0.000000	D	0.84915	0.5578	H	0.95470	3.675	0.80722	D	1	D;D;D	0.89917	0.998;1.0;1.0	D;D;D	0.97110	0.929;1.0;1.0	D	0.88563	0.3124	10	0.87932	D	0	.	20.0368	0.97565	0.0:1.0:0.0:0.0	.	963;962;967	Q15375-4;Q15375-2;Q15375	.;.;EPHA7_HUMAN	R	967	ENSP00000358309:G967R	ENSP00000358309:G967R	G	-	1	0	EPHA7	94009963	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.727000	0.93392	0.591000	0.81541	GGG		0.353	EPHA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041545.1			8	67	0	0	0	1	0	8	67					T	93953242	C	T	93953242	3	4	121	1	0	0	0	0	1	0	0	0	5172	681	24	3	101	3	EPHA7	6	93953242	Missense_Mutation	SNP	C	TCGA-EJ-A65F-01A-21D-A30X-08	86369739	93953242	77161825	30	6367											
MGC87042	256227	broad.mit.edu	37	chr7	22533125	22533125	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggttccattatgaacttggaCaattgctgctatcacacctg	10	13	8	10	0	1	1	1	1	0	0	2	2	2	2	2	2	3	3	2	2	4	5			TCGA-EJ-A65F-01A-21D-A30X-08	TCGA-EJ-A65F-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c17cad55-fb48-4813-8f26-083d3ece8ffa	17d98e3b-65f0-4395-8fdd-11ce4ccfc917	g.chr7:22533125C>T	ENST00000406890.2	-	3	452	c.358G>A	c.(358-360)Gtc>Atc	p.V120I	STEAP1B_ENST00000404369.4_Missense_Mutation_p.V139I	NM_207342.2	NP_997225.1	Q6NZ63	STEAL_HUMAN	STEAP family member 1B	120						integral component of membrane (GO:0016021)				endometrium(1)|kidney(1)|lung(2)	4						TGAACTTGGACAATTGCTGCT	0.383																																						ENST00000404369.4																			0				endometrium(1)|kidney(1)|lung(2)	4						c.(415-417)Gtc>Atc		STEAP family member 1B							187	155	165					7																	22533125		692	1591	2283	SO:0001583	missense	256227					integral to membrane	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity	g.chr7:22533125C>T		CCDS55094.1, CCDS56469.1	7p15.3	2011-05-19			ENSG00000105889	ENSG00000105889			41907	protein-coding gene	gene with protein product							Standard	NM_207342		Approved		uc010kum.2	Q6NZ63	OTTHUMG00000152529	ENST00000406890.2:c.358G>A	7.37:g.22533125C>T	ENSP00000385239:p.Val120Ile					STEAP1B_ENST00000406890.2_Missense_Mutation_p.V120I	p.V139I	NM_001164460.1	NP_001157932.1	Q6NZ63	STEAL_HUMAN			3	830	-			120					B5MCI2	Missense_Mutation	SNP	ENST00000406890.2	37	c.415G>A	CCDS55094.1	.	.	.	.	.	.	.	.	.	.	c	0.807	-0.753363	0.03041	.	.	ENSG00000105889	ENST00000406890;ENST00000404369;ENST00000424363;ENST00000439708	D;D;D;D	0.90133	-2.62;-2.62;-2.62;-2.62	1.06	0.111	0.14619	Flavoprotein transmembrane component (1);	0.357036	0.19013	U	0.125033	T	0.77157	0.4089	N	0.24115	0.695	0.09310	N	1	B;B	0.26935	0.164;0.004	B;B	0.19946	0.027;0.007	T	0.61657	-0.7018	10	0.23891	T	0.37	-4.1691	1.8792	0.03225	0.3189:0.451:0.0:0.2301	.	139;120	B5MCI2;Q6NZ63	.;STEAL_HUMAN	I	120;139;139;139	ENSP00000385239:V120I;ENSP00000384370:V139I;ENSP00000416608:V139I;ENSP00000408954:V139I	ENSP00000384370:V139I	V	-	1	0	STEAP1B	22499650	0.997000	0.39634	0.905000	0.35620	0.125000	0.20455	3.485000	0.53208	0.044000	0.15775	0.121000	0.15741	GTC		0.383	STEAP1B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000326617.2			5	64	0	0	0	1	0	5	64					T	22533125	C	T	22533125	3	4	121	1	0	0	0	0	1	0	0	0	9554	478	17	3	662	3	MGC87042	7	22533125	Missense_Mutation	SNP	C	TCGA-EJ-A65F-01A-21D-A30X-08		22533125	136605538	31	6368											
NOD1	10392	broad.mit.edu	37	chr7	30475683	30475683	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ttcctccttctgtggagatgCcgttggacgcaagactagga	8	11	12	10	2	1	2	0	0	1	2	3	5	3	4	3	3	1	2	3	3	2	4			TCGA-EJ-A65F-01A-21D-A30X-08	TCGA-EJ-A65F-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c17cad55-fb48-4813-8f26-083d3ece8ffa	17d98e3b-65f0-4395-8fdd-11ce4ccfc917	g.chr7:30475683C>T	ENST00000222823.4	-	11	3077	c.2552G>A	c.(2551-2553)gGc>gAc	p.G851D		NM_006092.2	NP_006083.1	Q9Y239	NOD1_HUMAN	nucleotide-binding oligomerization domain containing 1	851					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of MAPK activity (GO:0000187)|apoptotic process (GO:0006915)|defense response (GO:0006952)|defense response to bacterium (GO:0042742)|defense response to Gram-positive bacterium (GO:0050830)|detection of bacterium (GO:0016045)|detection of biotic stimulus (GO:0009595)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-8 biosynthetic process (GO:0042228)|intracellular signal transduction (GO:0035556)|JNK cascade (GO:0007254)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of dendritic cell antigen processing and presentation (GO:0002606)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of JNK cascade (GO:0046330)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of tumor necrosis factor production (GO:0032760)|protein oligomerization (GO:0051259)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|CARD domain binding (GO:0050700)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|identical protein binding (GO:0042802)|peptidoglycan binding (GO:0042834)|protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(2)|prostate(1)|skin(2)	39						TGTGGAGATGCCGTTGGACGC	0.458																																						ENST00000222823.4																			0				breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(2)|prostate(1)|skin(2)	39						c.(2551-2553)gGc>gAc		nucleotide-binding oligomerization domain containing 1							113	93	100					7																	30475683		2203	4300	6503	SO:0001583	missense	10392				activation of MAPK activity|detection of bacterium|induction of apoptosis|inflammatory response|innate immune response|interleukin-8 biosynthetic process|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of dendritic cell antigen processing and presentation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protein oligomerization|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	basolateral plasma membrane|cytosol	ATP binding|CARD domain binding|caspase activator activity|peptidoglycan binding|protein homodimerization activity	g.chr7:30475683C>T	AF126484	CCDS5427.1	7p15-p14	2006-12-08	2006-12-08	2006-12-08	ENSG00000106100	ENSG00000106100		"Nucleotide-binding domain and leucine rich repeat containing"	16390	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 1", "NLR family, CARD domain containing 1"	605980	"caspase recruitment domain family, member 4"	CARD4		10224040, 10329646	Standard	NM_006092		Approved	NLRC1, CLR7.1	uc003tav.3	Q9Y239	OTTHUMG00000023923	ENST00000222823.4:c.2552G>A	7.37:g.30475683C>T	ENSP00000222823:p.Gly851Asp						p.G851D	NM_006092.2	NP_006083.1	Q9Y239	NOD1_HUMAN			11	3077	-			851					B4DTU3|Q549U4|Q8IWF5	Missense_Mutation	SNP	ENST00000222823.4	37	c.2552G>A	CCDS5427.1	.	.	.	.	.	.	.	.	.	.	C	14.35	2.509885	0.44660	.	.	ENSG00000106100	ENST00000222823	T	0.53423	0.62	5.34	5.34	0.76211	.	0.104814	0.64402	D	0.000004	T	0.60418	0.2267	L	0.39633	1.23	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.59279	-0.7484	10	0.46703	T	0.11	.	15.7763	0.78220	0.0:1.0:0.0:0.0	.	851	Q9Y239	NOD1_HUMAN	D	851	ENSP00000222823:G851D	ENSP00000222823:G851D	G	-	2	0	NOD1	30442208	1.000000	0.71417	0.849000	0.33467	0.015000	0.08874	3.016000	0.49607	2.508000	0.84585	0.655000	0.94253	GGC		0.458	NOD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250443.2			3	41	0	0	0	1	0	3	41					T	30475683	C	T	30475683	3	4	121	1	0	0	0	0	1	0	0	0	10516	739	26	3	325	3	NOD1	7	30475683	Missense_Mutation	SNP	C	TCGA-EJ-A65F-01A-21D-A30X-08	7942558	30475683	128662980	32	6369											
FAM188B	84182	broad.mit.edu	37	chr7	30821758	30821758	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gatgctcagagactacactgGtaaatatatatgacctttca	14	12	7	8	0	2	2	2	1	0	1	2	4	2	2	1	1	2	2	1	1	6	6			TCGA-EJ-A65F-01A-21D-A30X-08	TCGA-EJ-A65F-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c17cad55-fb48-4813-8f26-083d3ece8ffa	17d98e3b-65f0-4395-8fdd-11ce4ccfc917	g.chr7:30821758G>C	ENST00000265299.6	+	3	426	c.349G>C	c.(349-351)Gta>Cta	p.V117L	INMT-FAM188B_ENST00000458257.1_3'UTR	NM_032222.2	NP_115598.2	Q4G0A6	F188B_HUMAN	family with sequence similarity 188, member B	117										endometrium(1)|large_intestine(5)|lung(19)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GACTACACTGGTAAATATATA	0.373																																						ENST00000265299.6																			0				endometrium(1)|large_intestine(5)|lung(19)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(349-351)Gta>Cta		family with sequence similarity 188, member B							85	74	77					7																	30821758		1889	4126	6015	SO:0001583	missense	84182							g.chr7:30821758G>C	AK026027	CCDS43565.1	7p14.3	2010-08-17	2009-07-14	2009-07-14	ENSG00000106125	ENSG00000106125			21916	protein-coding gene	gene with protein product			"chromosome 7 open reading frame 67"	C7orf67			Standard	NM_032222		Approved	FLJ22374	uc003tbt.3	Q4G0A6	OTTHUMG00000152800	ENST00000265299.6:c.349G>C	7.37:g.30821758G>C	ENSP00000265299:p.Val117Leu					INMT-FAM188B_ENST00000458257.1_3'UTR	p.V117L	NM_032222.2	NP_115598.2	Q4G0A6	F188B_HUMAN			3	426	+			117					Q71AZ7|Q9H6D2	Missense_Mutation	SNP	ENST00000265299.6	37	c.349G>C	CCDS43565.1	.	.	.	.	.	.	.	.	.	.	G	9.954	1.221029	0.22457	.	.	ENSG00000106125	ENST00000265299	T	0.26067	1.76	4.64	2.83	0.33086	.	0.336929	0.28853	N	0.013925	T	0.22437	0.0541	M	0.68317	2.08	0.22342	N	0.999181	P	0.35272	0.493	B	0.28991	0.097	T	0.26018	-1.0115	10	0.87932	D	0	-0.4326	6.6888	0.23160	0.2086:0.0:0.7914:0.0	.	117	Q4G0A6	F188B_HUMAN	L	117	ENSP00000265299:V117L	ENSP00000265299:V117L	V	+	1	0	FAM188B	30788283	0.819000	0.29175	0.922000	0.36590	0.862000	0.49288	1.006000	0.29847	1.324000	0.45282	-0.215000	0.12644	GTA		0.373	FAM188B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327962.1	NM_032222		19	48	0	0	0	1	0	19	48					C	30821758	G	C	30821758	3	2	121	1	0	0	0	0	1	0	0	0	5515	1261	44	5	359	5	FAM188B	7	30821758	Missense_Mutation	SNP	G	TCGA-EJ-A65F-01A-21D-A30X-08	346075	30821758	128316905	33	6370											
MRPL15	29088	broad.mit.edu	37	chr8	55059977	55059977	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgttccattctttcttcgtGgacaacccattccaaaaaga	11	13	5	12	1	2	1	0	0	2	1	5	2	4	2	3	1	1	1	3	1	3	5			TCGA-EJ-A65F-01A-21D-A30X-08	TCGA-EJ-A65F-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c17cad55-fb48-4813-8f26-083d3ece8ffa	17d98e3b-65f0-4395-8fdd-11ce4ccfc917	g.chr8:55059977G>T	ENST00000260102.4	+	5	663	c.589G>T	c.(589-591)Gga>Tga	p.G197*		NM_014175.3	NP_054894.1	Q9P015	RM15_HUMAN	mitochondrial ribosomal protein L15	197					translation (GO:0006412)	large ribosomal subunit (GO:0015934)|mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|prostate(1)|skin(3)	10		Lung NSC(129;0.109)|all_epithelial(80;0.134)|all_lung(136;0.181)	OV - Ovarian serous cystadenocarcinoma(7;4.3e-07)|Epithelial(17;5.79e-05)|all cancers(17;0.000458)			CTTTCTTCGTGGACAACCCAT	0.388																																						ENST00000260102.4																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|prostate(1)|skin(3)	10						c.(589-591)Gga>Tga		mitochondrial ribosomal protein L15							59	60	60					8																	55059977		2203	4300	6503	SO:0001587	stop_gained	29088				translation	large ribosomal subunit|mitochondrion	structural constituent of ribosome	g.chr8:55059977G>T	AB051619	CCDS6158.1	8q11.2-q13	2012-09-13			ENSG00000137547	ENSG00000137547		"Mitochondrial ribosomal proteins / large subunits"	14054	protein-coding gene	gene with protein product		611828				11543634	Standard	NM_014175		Approved	RPML7, MRP-L7, HSPC145, L15mt, MRP-L15	uc003xsa.2	Q9P015	OTTHUMG00000164315	ENST00000260102.4:c.589G>T	8.37:g.55059977G>T	ENSP00000260102:p.Gly197*						p.G197*	NM_014175.3	NP_054894.1	Q9P015	RM15_HUMAN	OV - Ovarian serous cystadenocarcinoma(7;4.3e-07)|Epithelial(17;5.79e-05)|all cancers(17;0.000458)		5	663	+		Lung NSC(129;0.109)|all_epithelial(80;0.134)|all_lung(136;0.181)	197					Q96Q54|Q9H0Y1	Nonsense_Mutation	SNP	ENST00000260102.4	37	c.589G>T	CCDS6158.1	.	.	.	.	.	.	.	.	.	.	G	35	5.566955	0.96540	.	.	ENSG00000137547	ENST00000260102	.	.	.	5.33	5.33	0.75918	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	-42.3853	19.0385	0.92989	0.0:0.0:1.0:0.0	.	.	.	.	X	197	.	ENSP00000260102:G197X	G	+	1	0	MRPL15	55222530	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.415000	0.97375	2.484000	0.83849	0.650000	0.86243	GGA		0.388	MRPL15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378254.1	NM_014175		3	60	1	0	1	1	1	3	60					T	55059977	G	T	55059977	4	4	121	1	0	0	0	0	0	1	0	0	9780	1349	47	5	607	5	MRPL15	8	55059977	Nonsense_Mutation	SNP	G	TCGA-EJ-A65F-01A-21D-A30X-08		55059977	91304045	34	6371											
CHD7	55636	broad.mit.edu	37	chr8	61734470	61734470	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaactaatgtccagggagcCggaaacagagcgtgtggtaa	14	6	14	7	2	0	1	0	0	0	1	1	4	1	3	2	3	4	1	2	3	4	2			TCGA-EJ-A65F-01A-21D-A30X-08	TCGA-EJ-A65F-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c17cad55-fb48-4813-8f26-083d3ece8ffa	17d98e3b-65f0-4395-8fdd-11ce4ccfc917	g.chr8:61734470C>T	ENST00000423902.2	+	10	3298	c.2819C>T	c.(2818-2820)cCg>cTg	p.P940L	CHD7_ENST00000524602.1_Intron|CHD7_ENST00000525508.1_Missense_Mutation_p.P940L	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	940	Chromo 2. {ECO:0000255|PROSITE- ProRule:PRU00053}.				adult heart development (GO:0007512)|adult walking behavior (GO:0007628)|artery morphogenesis (GO:0048844)|blood circulation (GO:0008015)|central nervous system development (GO:0007417)|chromatin modification (GO:0016568)|cognition (GO:0050890)|cranial nerve development (GO:0021545)|embryonic hindlimb morphogenesis (GO:0035116)|epithelium development (GO:0060429)|face development (GO:0060324)|female genitalia development (GO:0030540)|genitalia development (GO:0048806)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|inner ear morphogenesis (GO:0042472)|limb development (GO:0060173)|nose development (GO:0043584)|olfactory behavior (GO:0042048)|olfactory bulb development (GO:0021772)|olfactory nerve development (GO:0021553)|palate development (GO:0060021)|positive regulation of multicellular organism growth (GO:0040018)|regulation of growth hormone secretion (GO:0060123)|regulation of neurogenesis (GO:0050767)|regulation of transcription, DNA-templated (GO:0006355)|retina development in camera-type eye (GO:0060041)|rRNA processing (GO:0006364)|semicircular canal morphogenesis (GO:0048752)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|T cell differentiation (GO:0030217)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			TCCAGGGAGCCGGAAACAGAG	0.443																																						ENST00000423902.2																			0				NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123						c.(2818-2820)cCg>cTg		chromodomain helicase DNA binding protein 7							73	72	72					8																	61734470		1915	4140	6055	SO:0001583	missense	55636				central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent	nucleus	ATP binding|chromatin binding|DNA binding|helicase activity	g.chr8:61734470C>T	AB037837	CCDS47865.1	8q12.2	2014-09-17				ENSG00000171316			20626	protein-coding gene	gene with protein product		608892	"CHARGE association"	CRG		15300250, 18834967	Standard	NM_017780		Approved	KIAA1416, FLJ20357, FLJ20361	uc003xue.3	Q9P2D1		ENST00000423902.2:c.2819C>T	8.37:g.61734470C>T	ENSP00000392028:p.Pro940Leu					CHD7_ENST00000525508.1_Missense_Mutation_p.P940L|CHD7_ENST00000524602.1_Intron	p.P940L	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.143)		10	3298	+		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	940			Chromo 2.		D0VBA5|E9PNZ2|Q05DI5|Q2TAN4|Q66K35|Q7Z6C0|Q7Z7Q2|Q9NXA0|Q9NXA3	Missense_Mutation	SNP	ENST00000423902.2	37	c.2819C>T	CCDS47865.1	.	.	.	.	.	.	.	.	.	.	C	18.33	3.600544	0.66332	.	.	ENSG00000171316	ENST00000307121;ENST00000423902;ENST00000525508	D;D	0.92495	-3.05;-3.05	5.53	5.53	0.82687	Chromo domain/shadow (1);	0.000000	0.85682	D	0.000000	D	0.94374	0.8191	M	0.89095	3.005	0.80722	D	1	B;B	0.34264	0.016;0.446	B;B	0.38106	0.006;0.265	D	0.94375	0.7599	10	0.87932	D	0	-16.0778	19.8195	0.96586	0.0:1.0:0.0:0.0	.	940;940	Q9P2D1-2;Q9P2D1	.;CHD7_HUMAN	L	940	ENSP00000392028:P940L;ENSP00000436027:P940L	ENSP00000307304:P940L	P	+	2	0	CHD7	61897024	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.713000	0.68415	2.756000	0.94617	0.655000	0.94253	CCG		0.443	CHD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383468.2	XM_098762		6	14	0	0	0	1	0	6	14					T	61734470	C	T	61734470	3	4	121	1	0	0	0	0	1	0	0	0	3330	652	23	2	2853	2	CHD7	8	61734470	Missense_Mutation	SNP	C	TCGA-EJ-A65F-01A-21D-A30X-08	6674493	61734470	84629552	35	6372											
SLCO5A1	81796	broad.mit.edu	37	chr8	70585422	70585422	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aacccaacgaatttgaggccGgcagccaaaccaaaatacac	17	4	7	13	2	0	1	0	1	0	0	0	2	0	1	4	2	5	1	4	2	7	2			TCGA-EJ-A65F-01A-21D-A30X-08	TCGA-EJ-A65F-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c17cad55-fb48-4813-8f26-083d3ece8ffa	17d98e3b-65f0-4395-8fdd-11ce4ccfc917	g.chr8:70585422G>A	ENST00000260126.4	-	10	2935	c.2229C>T	c.(2227-2229)gcC>gcT	p.A743A	SLCO5A1_ENST00000530307.1_Silent_p.A688A|SLCO5A1_ENST00000524945.1_3'UTR	NM_030958.2	NP_112220.2	Q9H2Y9	SO5A1_HUMAN	solute carrier organic anion transporter family, member 5A1	743						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	53	Breast(64;0.0654)		Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)			ATTTGAGGCCGGCAGCCAAAC	0.488																																						ENST00000260126.3																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	53						c.(2227-2229)gcC>gcT		solute carrier organic anion transporter family, member 5A1							108	111	110					8																	70585422		2203	4300	6503	SO:0001819	synonymous_variant	81796					integral to membrane|plasma membrane	transporter activity	g.chr8:70585422G>A	AF205075	CCDS6205.1, CCDS55242.1, CCDS55243.1	8q13.1	2013-05-22	2003-11-25	2003-11-26	ENSG00000137571	ENSG00000137571		"Solute carriers"	19046	protein-coding gene	gene with protein product		613543	"solute carrier family 21 (organic anion transporter), member 15"	SLC21A15		12507753	Standard	NM_030958		Approved	OATPRP4, OATP-J, OATP5A1	uc003xyl.3	Q9H2Y9	OTTHUMG00000165121	ENST00000260126.4:c.2229C>T	8.37:g.70585422G>A						SLCO5A1_ENST00000530307.1_Silent_p.A688A|SLCO5A1_ENST00000524945.1_3'UTR	p.A743A	NM_030958.2	NP_112220.2	Q9H2Y9	SO5A1_HUMAN	Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)		10	2935	-	Breast(64;0.0654)		743					A4QPC2|B2RPF7|B3KMU7|E9PKK5|G3V1C0	Silent	SNP	ENST00000260126.4	37	c.2229C>T	CCDS6205.1																																																																																				0.488	SLCO5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381990.3	NM_030958		41	101	0	0	0	1	0	41	101					A	70585422	G	A	70585422	2	1	121	1	0	0	0	0	0	0	0	1	14731	1103	39	2		2	SLCO5A1	8	70585422	Silent	SNP	G	TCGA-EJ-A65F-01A-21D-A30X-08	8850952	70585422	75778600	36	6373											
KCNV1	27012	broad.mit.edu	37	chr8	110980473	110980473	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttggtaagcttctttagggcTtcacgctgtctaacagctgc	7	14	10	10	1	3	0	1	0	2	0	3	0	3	0	0	2	4	5	0	2	3	7			TCGA-EJ-A65F-01A-21D-A30X-08	TCGA-EJ-A65F-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c17cad55-fb48-4813-8f26-083d3ece8ffa	17d98e3b-65f0-4395-8fdd-11ce4ccfc917	g.chr8:110980473T>A	ENST00000524391.1	-	4	2379	c.1347A>T	c.(1345-1347)gaA>gaT	p.E449D	KCNV1_ENST00000297404.1_Missense_Mutation_p.E449D			Q6PIU1	KCNV1_HUMAN	potassium channel, subfamily V, member 1	449					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|ion channel inhibitor activity (GO:0008200)|potassium channel regulator activity (GO:0015459)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(20)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	all_neural(195;0.219)		OV - Ovarian serous cystadenocarcinoma(57;5.35e-13)			TCTTTAGGGCTTCACGCTGTC	0.438																																						ENST00000524391.1																			0				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(20)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						c.(1345-1347)gaA>gaT		potassium channel, subfamily V, member 1							107	103	104					8																	110980473		2203	4300	6503	SO:0001583	missense	27012					voltage-gated potassium channel complex	ion channel inhibitor activity|potassium channel regulator activity|voltage-gated potassium channel activity	g.chr8:110980473T>A	AF167082	CCDS6314.1	8q23.2	2011-07-05				ENSG00000164794		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	18861	protein-coding gene	gene with protein product		608164				8670833, 16382104	Standard	NM_014379		Approved	Kv8.1	uc003ynr.4	Q6PIU1		ENST00000524391.1:c.1347A>T	8.37:g.110980473T>A	ENSP00000435954:p.Glu449Asp					KCNV1_ENST00000297404.1_Missense_Mutation_p.E449D	p.E449D			Q6PIU1	KCNV1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;5.35e-13)		4	2379	-	all_neural(195;0.219)		449					Q9UHJ4	Missense_Mutation	SNP	ENST00000524391.1	37	c.1347A>T	CCDS6314.1	.	.	.	.	.	.	.	.	.	.	T	18.34	3.601687	0.66445	.	.	ENSG00000164794	ENST00000524391;ENST00000297404;ENST00000545728	D;D	0.97665	-4.48;-4.48	5.65	3.31	0.37934	.	0.117157	0.64402	D	0.000020	D	0.94218	0.8144	N	0.24115	0.695	0.48762	D	0.999708	D	0.61080	0.989	P	0.52343	0.696	D	0.90296	0.4326	10	0.23891	T	0.37	.	8.8194	0.35016	0.0:0.143:0.0:0.857	.	449	Q6PIU1	KCNV1_HUMAN	D	449;449;325	ENSP00000435954:E449D;ENSP00000297404:E449D	ENSP00000297404:E449D	E	-	3	2	KCNV1	111049649	1.000000	0.71417	0.998000	0.56505	0.985000	0.73830	1.644000	0.37228	0.434000	0.26340	0.533000	0.62120	GAA		0.438	KCNV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385525.1	NM_014379		13	69	0	0	0	1	0	13	69					A	110980473	T	A	110980473	3	1	121	1	0	0	0	0	1	0	0	0	8094	1606	56	5	159	5	KCNV1	8	110980473	Missense_Mutation	SNP	T	TCGA-EJ-A65F-01A-21D-A30X-08	40395051	110980473	35383549	37	6374											
FAM83A	84985	broad.mit.edu	37	chr8	124195408	124195408	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agctccctacagtccggcacCtacttccctgtggcctcaga	7	9	8	17	1	1	1	1	0	0	1	4	1	4	1	5	2	3	2	5	2	2	3			TCGA-EJ-A65F-01A-21D-A30X-08	TCGA-EJ-A65F-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c17cad55-fb48-4813-8f26-083d3ece8ffa	17d98e3b-65f0-4395-8fdd-11ce4ccfc917	g.chr8:124195408C>A	ENST00000518448.1	+	2	2326	c.312C>A	c.(310-312)acC>acA	p.T104T	FAM83A_ENST00000546351.1_Silent_p.T104T|U3_ENST00000408534.1_RNA|FAM83A_ENST00000522648.1_Silent_p.T104T|FAM83A_ENST00000276699.6_Silent_p.T104T|RP11-539E17.5_ENST00000522383.1_RNA|FAM83A_ENST00000536633.1_Silent_p.T104T|FAM83A_ENST00000318462.6_Silent_p.T104T			Q86UY5	FA83A_HUMAN	family with sequence similarity 83, member A	104										breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(2)|skin(1)	17	Lung NSC(37;1.55e-09)|Ovarian(258;0.0205)		STAD - Stomach adenocarcinoma(47;0.00527)			AGTCCGGCACCTACTTCCCTG	0.662																																						ENST00000518448.1																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(2)|skin(1)	17						c.(310-312)acC>acA		family with sequence similarity 83, member A							60	63	62					8																	124195408		2203	4300	6503	SO:0001819	synonymous_variant	84985							g.chr8:124195408C>A	BC052300	CCDS6339.1, CCDS6340.1, CCDS75784.1	8q24.13	2014-03-13			ENSG00000147689	ENSG00000147689			28210	protein-coding gene	gene with protein product						22886303	Standard	XM_005251087		Approved	MGC14128, BJ-TSA-9	uc003ypx.3	Q86UY5	OTTHUMG00000165083	ENST00000518448.1:c.312C>A	8.37:g.124195408C>A						FAM83A_ENST00000522648.1_Silent_p.T104T|FAM83A_ENST00000536633.1_Silent_p.T104T|FAM83A_ENST00000318462.6_Silent_p.T104T|FAM83A_ENST00000546351.1_Silent_p.T104T|FAM83A_ENST00000276699.6_Silent_p.T104T	p.T104T			Q86UY5	FA83A_HUMAN	STAD - Stomach adenocarcinoma(47;0.00527)		2	2326	+	Lung NSC(37;1.55e-09)|Ovarian(258;0.0205)		104					Q71HL2|Q8N7I1|Q96I47	Silent	SNP	ENST00000518448.1	37	c.312C>A	CCDS6340.1																																																																																				0.662	FAM83A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381737.1	NM_032899		33	130	1	0	2.47316e-13	1	2.7823e-13	33	130					A	124195408	C	A	124195408	2	1	121	1	0	0	0	0	0	0	0	1	5633	668	24	5		5	FAM83A	8	124195408	Silent	SNP	C	TCGA-EJ-A65F-01A-21D-A30X-08	13214935	124195408	22168614	38	6375											
OC90	729330	broad.mit.edu	37	chr8	133036907	133036907	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	acaggctgctggctgcccagGgcacccgagtctgcttgggg	5	7	16	13	1	1	0	0	0	1	0	1	1	1	0	2	5	3	5	2	5	0	1			TCGA-EJ-A65F-01A-21D-A30X-08	TCGA-EJ-A65F-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c17cad55-fb48-4813-8f26-083d3ece8ffa	17d98e3b-65f0-4395-8fdd-11ce4ccfc917	g.chr8:133036907G>T	ENST00000443356.2	-	15	1389	c.1303C>A	c.(1303-1305)Cct>Act	p.P435T	OC90_ENST00000262283.5_Missense_Mutation_p.P631T|OC90_ENST00000603859.1_Missense_Mutation_p.P419T|OC90_ENST00000254627.3_Missense_Mutation_p.P419T			Q02509	OC90_HUMAN	otoconin 90	435	Phospholipase A2-like 3.				lipid catabolic process (GO:0016042)|phospholipid metabolic process (GO:0006644)	extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|phospholipase A2 activity (GO:0004623)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(23)|ovary(2)|prostate(1)|skin(1)	37	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000805)			GGCTGCCCAGGGCACCCGAGT	0.632																																						ENST00000262283.5																			0				NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(23)|ovary(2)|prostate(1)|skin(1)	37						c.(1891-1893)Cct>Act		otoconin 90							17	23	21					8																	133036907		2036	4173	6209	SO:0001583	missense	729330				lipid catabolic process|phospholipid metabolic process		calcium ion binding|phospholipase A2 activity	g.chr8:133036907G>T	Z14310	CCDS47919.1	8q24.22	2011-03-01			ENSG00000253117	ENSG00000253117			8100	protein-coding gene	gene with protein product		601658		PLA2L		10329003, 9860971	Standard	NM_001080399		Approved		uc011lix.1	Q02509	OTTHUMG00000164672	ENST00000443356.2:c.1303C>A	8.37:g.133036907G>T	ENSP00000390050:p.Pro435Thr					OC90_ENST00000603859.1_Missense_Mutation_p.P419T|OC90_ENST00000443356.2_Missense_Mutation_p.P435T|OC90_ENST00000254627.3_Missense_Mutation_p.P419T	p.P631T			Q02509	OC90_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000805)		18	1990	-	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		435					B4DNG8	Missense_Mutation	SNP	ENST00000443356.2	37	c.1891C>A		.	.	.	.	.	.	.	.	.	.	G	9.878	1.200822	0.22121	.	.	ENSG00000253117;ENSG00000253117;ENSG00000258417	ENST00000254627;ENST00000443356;ENST00000262283	T;T;T	0.28454	1.63;1.63;1.61	5.85	4.0	0.46444	Phospholipase A2 (3);	0.813791	0.11143	N	0.595088	T	0.18635	0.0447	N	0.08118	0	0.25251	N	0.989674	B;B	0.24368	0.1;0.102	B;B	0.31191	0.125;0.059	T	0.33954	-0.9848	10	0.26408	T	0.33	0.0192	10.3427	0.43889	0.0:0.1467:0.7007:0.1526	.	419;435	Q02509-2;Q02509	.;OC90_HUMAN	T	419;435;631	ENSP00000254627:P419T;ENSP00000390050:P435T;ENSP00000262283:P631T	ENSP00000254627:P419T	P	-	1	0	RP11-240B13.2;OC90	133106089	1.000000	0.71417	0.943000	0.38184	0.008000	0.06430	5.145000	0.64839	0.756000	0.33013	0.655000	0.94253	CCT		0.632	OC90-201	KNOWN	basic	protein_coding	protein_coding		NM_001080399		13	27	1	0	1.05317e-09	1	1.15849e-09	13	27					T	133036907	G	T	133036907	3	4	121	1	0	0	0	0	1	0	0	0	10814	1232	43	5	182	5	OC90	8	133036907	Missense_Mutation	SNP	G	TCGA-EJ-A65F-01A-21D-A30X-08	8841499	133036907	13327115	39	6376											
BNC2	54796	broad.mit.edu	37	chr9	16419581	16419581	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctaagggagggctgcgacgaGtccaggcccatgtcatcgag	9	6	15	11	3	1	0	1	0	0	0	3	4	2	1	2	3	1	1	2	3	1	1			TCGA-EJ-A65F-01A-21D-A30X-08	TCGA-EJ-A65F-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c17cad55-fb48-4813-8f26-083d3ece8ffa	17d98e3b-65f0-4395-8fdd-11ce4ccfc917	g.chr9:16419581G>C	ENST00000380672.4	-	7	2763	c.2706C>G	c.(2704-2706)gaC>gaG	p.D902E	BNC2_ENST00000380667.2_Missense_Mutation_p.D835E|BNC2_ENST00000545497.1_Missense_Mutation_p.D807E	NM_017637.5	NP_060107.3			basonuclin 2											NS(2)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(16)|liver(1)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(50;9.01e-08)		GCTGCGACGAGTCCAGGCCCA	0.532																																						ENST00000380672.4																			0				NS(2)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(16)|liver(1)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	60						c.(2704-2706)gaC>gaG		basonuclin 2							81	87	85					9																	16419581		2203	4300	6503	SO:0001583	missense	54796				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	zinc ion binding	g.chr9:16419581G>C	AK092247	CCDS6482.2	9p22.2	2013-05-20			ENSG00000173068	ENSG00000173068		"Zinc fingers, C2H2-type"	30988	protein-coding gene	gene with protein product		608669				14702039	Standard	XM_006716784		Approved	BSN2, FLJ20043	uc003zml.3	Q6ZN30	OTTHUMG00000019593	ENST00000380672.4:c.2706C>G	9.37:g.16419581G>C	ENSP00000370047:p.Asp902Glu					BNC2_ENST00000545497.1_Missense_Mutation_p.D807E|BNC2_ENST00000380667.2_Missense_Mutation_p.D835E	p.D902E	NM_017637.5	NP_060107.3	Q6ZN30	BNC2_HUMAN		GBM - Glioblastoma multiforme(50;9.01e-08)	7	2763	-			902						Missense_Mutation	SNP	ENST00000380672.4	37	c.2706C>G	CCDS6482.2	.	.	.	.	.	.	.	.	.	.	G	11.29	1.594307	0.28445	.	.	ENSG00000173068	ENST00000380672;ENST00000380667;ENST00000545497	T;T;T	0.31247	1.5;1.52;1.51	5.59	3.76	0.43208	.	0.000000	0.85682	D	0.000000	T	0.23249	0.0562	L	0.55990	1.75	0.80722	D	1	B;B;B	0.32467	0.336;0.372;0.372	B;B;B	0.24155	0.051;0.042;0.042	T	0.04090	-1.0978	10	0.16420	T	0.52	-18.5574	9.9946	0.41891	0.2124:0.0:0.7876:0.0	.	807;902;667	F5H586;Q6ZN30;D3DRJ1	.;BNC2_HUMAN;.	E	902;835;807	ENSP00000370047:D902E;ENSP00000370042:D835E;ENSP00000444640:D807E	ENSP00000370042:D835E	D	-	3	2	BNC2	16409581	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	2.874000	0.48483	1.369000	0.46134	-0.140000	0.14226	GAC		0.532	BNC2-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000216901.5	NM_017637		36	61	0	0	0	1	0	36	61					C	16419581	G	C	16419581	3	2	121	1	0	0	0	0	1	0	0	0	1475	1020	36	5	597	5	BNC2	9	16419581	Missense_Mutation	SNP	G	TCGA-EJ-A65F-01A-21D-A30X-08		16419581	124793850	40	6377											
C9orf23	138716	broad.mit.edu	37	chr9	34611074	34611074	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctgggacccgccgcttgaCaatctcagcgcagctgacag	8	6	12	15	3	1	2	1	2	1	0	2	3	1	3	3	1	2	3	3	1	1	1			TCGA-EJ-A65F-01A-21D-A30X-08	TCGA-EJ-A65F-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c17cad55-fb48-4813-8f26-083d3ece8ffa	17d98e3b-65f0-4395-8fdd-11ce4ccfc917	g.chr9:34611074C>G	ENST00000297613.4	-	2	500	c.220G>C	c.(220-222)Gtc>Ctc	p.V74L	DCTN3_ENST00000479399.1_5'Flank|RPP25L_ENST00000378959.4_Missense_Mutation_p.V74L	NM_148179.2	NP_680545.1	Q8N5L8	RP25L_HUMAN	ribonuclease P/MRP 25kDa subunit-like	74						nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.V74I(1)									CGCCGCTTGACAATCTCAGCG	0.627																																						ENST00000297613.4																			1	Substitution - Missense(1)	p.V74I(1)	lung(1)								c.(220-222)Gtc>Ctc		ribonuclease P/MRP 25kDa subunit-like							62	60	61					9																	34611074		2203	4300	6503	SO:0001583	missense	138716						nucleic acid binding	g.chr9:34611074C>G	BC032136	CCDS6559.1	9p11.2	2012-03-06	2012-03-06	2012-03-06	ENSG00000164967	ENSG00000164967			19909	protein-coding gene	gene with protein product			"chromosome 9 open reading frame 23"	C9orf23		16998185	Standard	NM_148178		Approved	bA296L22.5, MGC29635	uc003zuv.3	Q8N5L8	OTTHUMG00000000443	ENST00000297613.4:c.220G>C	9.37:g.34611074C>G	ENSP00000297613:p.Val74Leu					RPP25L_ENST00000378959.4_Missense_Mutation_p.V74L	p.V74L	NM_148179.2	NP_680545.1	Q8N5L8	CI023_HUMAN			2	500	-			74					D3DRM5	Missense_Mutation	SNP	ENST00000297613.4	37	c.220G>C	CCDS6559.1	.	.	.	.	.	.	.	.	.	.	C	3.354	-0.131825	0.06753	.	.	ENSG00000164967	ENST00000378959;ENST00000297613	.	.	.	4.72	3.79	0.43588	.	0.302693	0.33834	N	0.004512	T	0.13884	0.0336	N	0.01631	-0.79	0.36230	D	0.852554	B	0.06786	0.001	B	0.08055	0.003	T	0.35748	-0.9776	9	0.02654	T	1	-10.5411	4.1416	0.10196	0.0:0.5692:0.2365:0.1943	.	74	Q8N5L8	CI023_HUMAN	L	74	.	ENSP00000297613:V74L	V	-	1	0	C9orf23	34601074	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	0.968000	0.29357	2.448000	0.82819	0.643000	0.83706	GTC		0.627	RPP25L-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001130.1	NM_148179		8	48	0	0	0	1	0	8	48					G	34611074	C	G	34611074	3	3	121	1	0	0	0	0	1	0	0	0	2474	478	17	5	275	5	C9orf23	9	34611074	Missense_Mutation	SNP	C	TCGA-EJ-A65F-01A-21D-A30X-08	18191493	34611074	106602357	41	6378											
UNC13B	10497	broad.mit.edu	37	chr9	35382355	35382355	+	Splice_Site	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgggtgctgtgtttttcaggCactttgcatgtttatcatcc	5	17	10	9	1	2	0	2	0	0	0	3	0	3	0	1	2	2	5	1	2	1	5			TCGA-EJ-A65F-01A-21D-A30X-08	TCGA-EJ-A65F-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c17cad55-fb48-4813-8f26-083d3ece8ffa	17d98e3b-65f0-4395-8fdd-11ce4ccfc917	g.chr9:35382355C>G	ENST00000378495.3	+	20	2632	c.2410C>G	c.(2410-2412)Cac>Gac	p.H804D	UNC13B_ENST00000396787.1_Splice_Site_p.H816D|UNC13B_ENST00000378496.4_Splice_Site_p.H804D	NM_006377.3	NP_006368.3	O14795	UN13B_HUMAN	unc-13 homolog B (C. elegans)	804					apoptotic process (GO:0006915)|excretion (GO:0007588)|innervation (GO:0060384)|intracellular signal transduction (GO:0035556)|neuromuscular junction development (GO:0007528)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|positive regulation of synaptic vesicle priming (GO:0010808)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|synaptic vesicle docking involved in exocytosis (GO:0016081)|synaptic vesicle priming (GO:0016082)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)|terminal bouton (GO:0043195)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)|receptor activity (GO:0004872)|signal transducer activity (GO:0004871)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(16)|liver(2)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_epithelial(49;0.212)		LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194)			GTTTTTCAGGCACTTTGCATG	0.488																																						ENST00000378495.3																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(16)|liver(2)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	63						c.e20-1		unc-13 homolog B (C. elegans)							168	145	153					9																	35382355		2203	4300	6503	SO:0001630	splice_region_variant	10497				excretion|induction of apoptosis|intracellular signal transduction	cell junction|Golgi apparatus|synapse	metal ion binding|receptor activity	g.chr9:35382355C>G	AF020202	CCDS6579.1	9p13.3	2008-05-15	2003-10-17	2003-10-17	ENSG00000198722	ENSG00000198722			12566	protein-coding gene	gene with protein product		605836	"unc-13-like (C. elegans)"	UNC13		9607201	Standard	NM_006377		Approved	hmunc13, Unc13h2	uc003zwq.3	O14795	OTTHUMG00000019856	ENST00000378495.3:c.2409-1C>G	9.37:g.35382355C>G						UNC13B_ENST00000378496.4_Splice_Site_p.H804_splice|UNC13B_ENST00000396787.1_Splice_Site_p.H816_splice	p.H804_splice	NM_006377.3	NP_006368.3	O14795	UN13B_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194)		20	2632	+	all_epithelial(49;0.212)		804					Q5VYM8	Splice_Site	SNP	ENST00000378495.3	37	c.2408_splice	CCDS6579.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.065786	0.76187	.	.	ENSG00000198722	ENST00000396787;ENST00000378495;ENST00000378496;ENST00000535471	D;D;D	0.85171	-1.83;-1.76;-1.95	5.5	5.5	0.81552	.	0.084546	0.85682	D	0.000000	D	0.91948	0.7450	M	0.83953	2.67	0.80722	D	1	P;D	0.63046	0.902;0.992	P;P	0.58970	0.498;0.849	D	0.92525	0.6028	10	0.72032	D	0.01	-19.1484	18.5685	0.91126	0.0:1.0:0.0:0.0	.	804;804	F8W8M9;O14795	.;UN13B_HUMAN	D	816;804;804;391	ENSP00000380006:H816D;ENSP00000367756:H804D;ENSP00000367757:H804D	ENSP00000367756:H804D	H	+	1	0	UNC13B	35372355	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.567000	0.82357	2.861000	0.98227	0.655000	0.94253	CAC		0.488	UNC13B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000052296.1	NM_006377	Missense_Mutation	19	54	0	0	0	1	0	19	54					G	35382355	C	G	35382355	5	3	121	1	0	0	0	0	0	0	1	0	16982	724	25	5	2488	5	UNC13B	9	35382355	Splice_Site	SNP	C	TCGA-EJ-A65F-01A-21D-A30X-08	771281	35382355	105831076	42	6379											
FRMPD1	22844	broad.mit.edu	37	chr9	37740677	37740677	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccagtgtctccccggccagcTacctgagtgacagttccgag	7	8	11	15	2	1	2	0	2	1	0	3	3	2	2	6	1	2	2	6	1	1	2			TCGA-EJ-A65F-01A-21D-A30X-08	TCGA-EJ-A65F-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c17cad55-fb48-4813-8f26-083d3ece8ffa	17d98e3b-65f0-4395-8fdd-11ce4ccfc917	g.chr9:37740677T>A	ENST00000539465.1	+	15	2745	c.2152T>A	c.(2152-2154)Tac>Aac	p.Y718N	FRMPD1_ENST00000377765.3_Missense_Mutation_p.Y718N|FRMPD1_ENST00000536622.1_Missense_Mutation_p.Y540N|RP11-613M10.9_ENST00000540557.1_Intron|FRMPD1_ENST00000541302.1_Missense_Mutation_p.Y587N			Q5SYB0	FRPD1_HUMAN	FERM and PDZ domain containing 1	718						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)				NS(3)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(34)|ovary(5)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	93				GBM - Glioblastoma multiforme(29;0.00655)		CCCGGCCAGCTACCTGAGTGA	0.637																																						ENST00000539465.1																			0				NS(3)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(34)|ovary(5)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	93						c.(2152-2154)Tac>Aac		FERM and PDZ domain containing 1							48	38	41					9																	37740677		2203	4300	6503	SO:0001583	missense	22844					cytoskeleton|cytosol|plasma membrane		g.chr9:37740677T>A	AB023184	CCDS6612.1	9p13.1	2008-02-05			ENSG00000070601	ENSG00000070601			29159	protein-coding gene	gene with protein product						10231032	Standard	NM_014907		Approved	KIAA0967, FRMD2	uc004aag.1	Q5SYB0	OTTHUMG00000019927	ENST00000539465.1:c.2152T>A	9.37:g.37740677T>A	ENSP00000444411:p.Tyr718Asn					FRMPD1_ENST00000541302.1_Missense_Mutation_p.Y587N|RP11-613M10.9_ENST00000540557.1_Intron|FRMPD1_ENST00000536622.1_Missense_Mutation_p.Y540N|FRMPD1_ENST00000377765.3_Missense_Mutation_p.Y718N	p.Y718N			Q5SYB0	FRPD1_HUMAN		GBM - Glioblastoma multiforme(29;0.00655)	15	2745	+			718					B4DZC8|B7Z807|D3DRQ3|Q14C73|Q5HY96|Q9Y2H3	Missense_Mutation	SNP	ENST00000539465.1	37	c.2152T>A	CCDS6612.1	.	.	.	.	.	.	.	.	.	.	T	10.03	1.239733	0.22711	.	.	ENSG00000070601	ENST00000377765;ENST00000539465;ENST00000536622;ENST00000541302	T;T;T;T	0.16324	3.34;3.34;2.35;2.35	5.75	3.64	0.41730	.	0.711398	0.14100	N	0.341422	T	0.08358	0.0208	N	0.08118	0	0.24318	N	0.995057	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.29150	-1.0021	10	0.27785	T	0.31	-6.3804	8.0203	0.30406	0.2229:0.6895:0.0:0.0876	.	587;718	B4DZC8;Q5SYB0	.;FRPD1_HUMAN	N	718;718;540;587	ENSP00000366995:Y718N;ENSP00000444411:Y718N;ENSP00000437762:Y540N;ENSP00000444804:Y587N	ENSP00000366995:Y718N	Y	+	1	0	FRMPD1	37730677	0.486000	0.25980	1.000000	0.80357	0.715000	0.41141	0.674000	0.25218	1.421000	0.47157	-0.177000	0.13119	TAC		0.637	FRMPD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402969.1	NM_014907		16	17	0	0	0	1	0	16	17					A	37740677	T	A	37740677	3	1	121	1	0	0	0	0	1	0	0	0	6057	1522	53	5	2206	5	FRMPD1	9	37740677	Missense_Mutation	SNP	T	TCGA-EJ-A65F-01A-21D-A30X-08	2358322	37740677	103472754	43	6380											
GRIN3A	116443	broad.mit.edu	37	chr9	104432660	104432660	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	agagccacaaaaatccccagCcacattgtccagtggagtgg	13	6	10	12	0	0	1	0	0	0	1	2	2	2	2	5	2	2	0	5	2	2	1			TCGA-EJ-A65F-01A-21D-A30X-08	TCGA-EJ-A65F-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c17cad55-fb48-4813-8f26-083d3ece8ffa	17d98e3b-65f0-4395-8fdd-11ce4ccfc917	g.chr9:104432660C>T	ENST00000361820.3	-	3	2634	c.2034G>A	c.(2032-2034)tgG>tgA	p.W678*		NM_133445.2	NP_597702.2	Q8TCU5	NMD3A_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3A	678					calcium ion transport (GO:0006816)|dendrite development (GO:0016358)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|prepulse inhibition (GO:0060134)|response to ethanol (GO:0045471)|rhythmic process (GO:0048511)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|identical protein binding (GO:0042802)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|neurotransmitter binding (GO:0042165)|protein phosphatase 2A binding (GO:0051721)			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Acetylcysteine(DB06151)|Amantadine(DB00915)|Atomoxetine(DB00289)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Gabapentin(DB00996)|Halothane(DB01159)|Ketamine(DB01221)|Ketobemidone(DB06738)|Memantine(DB01043)|Methadone(DB00333)|Milnacipran(DB04896)|Orphenadrine(DB01173)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Procaine(DB00721)|Secobarbital(DB00418)|Tramadol(DB00193)	AAATCCCCAGCCACATTGTCC	0.522																																						ENST00000361820.3																			0				breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80						c.(2032-2034)tgG>tgA		glutamate receptor, ionotropic, N-methyl-D-aspartate 3A	Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740)						76	84	81					9																	104432660		2203	4300	6503	SO:0001587	stop_gained	116443				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|N-methyl-D-aspartate selective glutamate receptor activity|protein phosphatase 2A binding	g.chr9:104432660C>T		CCDS6758.1	9q31.1	2012-08-29			ENSG00000198785	ENSG00000198785		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	16767	protein-coding gene	gene with protein product		606650					Standard	NM_133445		Approved	GluN3A	uc004bbp.2	Q8TCU5	OTTHUMG00000020387	ENST00000361820.3:c.2034G>A	9.37:g.104432660C>T	ENSP00000355155:p.Trp678*						p.W678*	NM_133445.2	NP_597702.2	Q8TCU5	NMD3A_HUMAN			3	2634	-		Acute lymphoblastic leukemia(62;0.0568)	678					B3DLF9|Q5VTR3|Q8TF29|Q8WXI6	Nonsense_Mutation	SNP	ENST00000361820.3	37	c.2034G>A	CCDS6758.1	.	.	.	.	.	.	.	.	.	.	C	44	11.105345	0.99516	.	.	ENSG00000198785	ENST00000361820	.	.	.	5.63	3.8	0.43715	.	0.077434	0.56097	D	0.000024	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.6776	0.51438	0.0:0.8084:0.1247:0.0669	.	.	.	.	X	678	.	ENSP00000355155:W678X	W	-	3	0	GRIN3A	103472481	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.773000	0.85462	0.863000	0.35553	0.580000	0.79431	TGG		0.522	GRIN3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053453.1			34	108	0	0	0	1	0	34	108					T	104432660	C	T	104432660	4	4	121	1	0	0	0	0	0	1	0	0	6783	740	26	3	1341	3	GRIN3A	9	104432660	Nonsense_Mutation	SNP	C	TCGA-EJ-A65F-01A-21D-A30X-08	66691983	104432660	36780771	44	6381											
AMBP	259	broad.mit.edu	37	chr9	116825038	116825054	+	Splice_Site	DEL	TCTGCGGGGGAGAGAAA	TCTGCGGGGGAGAGAAA	-																															tagcacagccctccggactcTctgcgggggagagaaagaga																								rs372370283|rs374698399|rs369265422		TCGA-EJ-A65F-01A-21D-A30X-08	TCGA-EJ-A65F-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c17cad55-fb48-4813-8f26-083d3ece8ffa	17d98e3b-65f0-4395-8fdd-11ce4ccfc917	g.chr9:116825038_116825054delTCTGCGGGGGAGAGAAA	ENST00000265132.3	-	7	866	c.604delTTTCTCTCCCCCGCAGA	c.(604-606)ttt>tt	p.F202fs		NM_001633.3	NP_001624.1	P02760	AMBP_HUMAN	alpha-1-microglobulin/bikunin precursor	202					cell adhesion (GO:0007155)|female pregnancy (GO:0007565)|heme catabolic process (GO:0042167)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of immune response (GO:0050777)|negative regulation of JNK cascade (GO:0046329)|protein catabolic process (GO:0030163)|protein-chromophore linkage (GO:0018298)|viral process (GO:0016032)	blood microparticle (GO:0072562)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	calcium channel inhibitor activity (GO:0019855)|calcium oxalate binding (GO:0046904)|heme binding (GO:0020037)|IgA binding (GO:0019862)|protein homodimerization activity (GO:0042803)|serine-type endopeptidase inhibitor activity (GO:0004867)|small molecule binding (GO:0036094)			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	11					Human Serum Albumin(DB00062)|Serum albumin iodonated(DB00064)	CTCCGGACTCTCTGCGGGGGAGAGAAAGAGAAGAAGC	0.498																																						ENST00000265132.3																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	11						c.e7-1		alpha-1-microglobulin/bikunin precursor	Human Serum Albumin(DB00062)|Serum albumin iodonated(DB00064)																																			SO:0001630	splice_region_variant	259				cell adhesion|female pregnancy|heme catabolic process|interspecies interaction between organisms|negative regulation of immune response|negative regulation of JNK cascade|protein-chromophore linkage	extracellular region|plasma membrane	calcium channel inhibitor activity|calcium oxalate binding|heme binding|IgA binding|protein homodimerization activity|serine-type endopeptidase inhibitor activity|transporter activity	g.chr9:116825038_116825054delTCTGCGGGGGAGAGAAA	X04494	CCDS6800.1	9q32-q33	2014-01-22			ENSG00000106927	ENSG00000106927		"Lipocalins"	453	protein-coding gene	gene with protein product	"growth-inhibiting protein 19", "uristatin", "complex-forming glycoprotein heterogeneous in charge", "bikunin", "inter-alpha-trypsin inhibitor light chain", "protein HC", "uronic-acid-rich protein", "trypstatin"	176870		ITI, ITIL		1708673, 1385302	Standard	NM_001633		Approved	UTI, HCP, EDC1, HI30, IATIL, ITILC	uc004bie.4	P02760	OTTHUMG00000020534	ENST00000265132.3:c.604-1TTTCTCTCCCCCGCAGA>-	9.37:g.116825038_116825054delTCTGCGGGGGAGAGAAA							p.202_splice	NM_001633.3	NP_001624.1	P02760	AMBP_HUMAN			7	866	-			202					P00977|P02759|P78491|Q2TU33|Q5TBD7|Q9UC58|Q9UDI8	Splice_Site	DEL	ENST00000265132.3	37	c.603_splice	CCDS6800.1																																																																																				0.498	AMBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053758.2	NM_001633	Frame_Shift_Del	7	63						7	63	---	---	---	---	-	116825054	TCTGCGGGGGAGAGAAA	-	116825038	8	5	121	1	0	1	0	1	0	0	1	0	564	1565	54	0	470	0	AMBP	9	116825038	Splice_Site	DEL	TCTGCGGGGGAGAGAAA	TCGA-EJ-A65F-01A-21D-A30X-08	12392378	116825038	24388393	45	6382											
PSMD5	5711	broad.mit.edu	37	chr9	123586854	123586854	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gctacaccaatcatagtgggGtcctgactttctatcatttc	9	14	7	11	0	3	1	2	1	1	0	5	1	4	1	2	2	1	1	2	2	4	5			TCGA-EJ-A65F-01A-21D-A30X-08	TCGA-EJ-A65F-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c17cad55-fb48-4813-8f26-083d3ece8ffa	17d98e3b-65f0-4395-8fdd-11ce4ccfc917	g.chr9:123586854G>C	ENST00000210313.3	-	7	998	c.924C>G	c.(922-924)gaC>gaG	p.D308E	PSMD5-AS1_ENST00000589026.1_RNA|PSMD5_ENST00000373904.5_Missense_Mutation_p.D265E	NM_001270427.1|NM_005047.3	NP_001257356.1|NP_005038.1	Q16401	PSMD5_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 5	308					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|proteasome regulatory particle assembly (GO:0070682)|protein folding (GO:0006457)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)				endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|prostate(1)	10						TCATAGTGGGGTCCTGACTTT	0.418																																						ENST00000210313.3																			0				endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|prostate(1)	10						c.(922-924)gaC>gaG		proteasome (prosome, macropain) 26S subunit, non-ATPase, 5							122	119	120					9																	123586854		2203	4300	6503	SO:0001583	missense	5711				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|proteasome regulatory particle assembly|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome complex	protein binding	g.chr9:123586854G>C	AK001065	CCDS6824.1, CCDS59143.1	9q34.11	2008-02-05			ENSG00000095261	ENSG00000095261		"Proteasome (prosome, macropain) subunits"	9563	protein-coding gene	gene with protein product		604452				7559544	Standard	NM_005047		Approved	S5B, KIAA0072	uc004bko.4	Q16401	OTTHUMG00000020573	ENST00000210313.3:c.924C>G	9.37:g.123586854G>C	ENSP00000210313:p.Asp308Glu					PSMD5_ENST00000373904.5_Missense_Mutation_p.D265E	p.D308E	NM_001270427.1|NM_005047.3	NP_001257356.1|NP_005038.1	Q16401	PSMD5_HUMAN			7	998	-			308					B4DZM8|Q15045|Q4VXG8	Missense_Mutation	SNP	ENST00000210313.3	37	c.924C>G	CCDS6824.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.334089	0.81801	.	.	ENSG00000095261	ENST00000210313;ENST00000373904;ENST00000373903	T;T	0.41065	1.01;1.01	6.17	3.35	0.38373	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.62744	0.2453	M	0.83603	2.65	0.58432	D	0.999997	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.62388	-0.6865	10	0.37606	T	0.19	.	9.8803	0.41229	0.2812:0.0:0.7188:0.0	.	265;308	B4DZM8;Q16401	.;PSMD5_HUMAN	E	308;265;79	ENSP00000210313:D308E;ENSP00000363011:D265E	ENSP00000210313:D308E	D	-	3	2	PSMD5	122626675	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.784000	0.55416	0.945000	0.37605	0.655000	0.94253	GAC		0.418	PSMD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053825.2	NM_005047		8	112	0	0	0	1	0	8	112					C	123586854	G	C	123586854	3	2	121	1	0	0	0	0	1	0	0	0	12701	1252	44	5	606	5	PSMD5	9	123586854	Missense_Mutation	SNP	G	TCGA-EJ-A65F-01A-21D-A30X-08	6761816	123586854	17626577	46	6383											
RABGAP1	23637	broad.mit.edu	37	chr9	125751730	125751730	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttcagaatacacgtcttcCggtgtgaaatacaagaagct	13	11	8	9	2	3	3	1	1	2	2	4	3	4	3	1	1	3	1	1	1	6	4			TCGA-EJ-A65F-01A-21D-A30X-08	TCGA-EJ-A65F-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c17cad55-fb48-4813-8f26-083d3ece8ffa	17d98e3b-65f0-4395-8fdd-11ce4ccfc917	g.chr9:125751730C>T	ENST00000373647.4	+	5	879	c.745C>T	c.(745-747)Cgg>Tgg	p.R249W		NM_012197.3	NP_036329.3	Q9Y3P9	RBGP1_HUMAN	RAB GTPase activating protein 1	249	PID. {ECO:0000255|PROSITE- ProRule:PRU00148}.				cell cycle (GO:0007049)|positive regulation of GTPase activity (GO:0043547)|regulation of GTP catabolic process (GO:0033124)	centrosome (GO:0005813)|cytosol (GO:0005829)|microtubule associated complex (GO:0005875)	DNA binding (GO:0003677)|GTPase activator activity (GO:0005096)|Rab GTPase activator activity (GO:0005097)|Rab GTPase binding (GO:0017137)|tubulin binding (GO:0015631)			breast(3)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|prostate(4)|stomach(3)|upper_aerodigestive_tract(1)	41						ACACGTCTTCCGGTGTGAAAT	0.418																																						ENST00000373647.4																			0				breast(3)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|prostate(4)|stomach(3)|upper_aerodigestive_tract(1)	41						c.(745-747)Cgg>Tgg		RAB GTPase activating protein 1							70	67	68					9																	125751730		2203	4300	6503	SO:0001583	missense	23637				cell cycle	centrosome|cytosol|microtubule associated complex	Rab GTPase activator activity|tubulin binding	g.chr9:125751730C>T	AJ011679	CCDS6848.2	9q34.11	2013-07-09			ENSG00000011454	ENSG00000011454			17155	protein-coding gene	gene with protein product	"rab6 GTPase activating protein (GAP and centrosome-associated)", "TBC1 domain family, member 11"	615882				10202141	Standard	NM_012197		Approved	GAPCenA, TBC1D11	uc011lzh.2	Q9Y3P9	OTTHUMG00000020633	ENST00000373647.4:c.745C>T	9.37:g.125751730C>T	ENSP00000362751:p.Arg249Trp						p.R249W	NM_012197.3	NP_036329.3	Q9Y3P9	RBGP1_HUMAN			5	879	+			249			PID.		B9A6L2|Q05CW2|Q6ZMY1|Q9HA28|Q9P0E2|Q9UG67	Missense_Mutation	SNP	ENST00000373647.4	37	c.745C>T	CCDS6848.2	.	.	.	.	.	.	.	.	.	.	C	25.9	4.683684	0.88639	.	.	ENSG00000011454	ENST00000373647;ENST00000317419;ENST00000426918	T	0.19669	2.13	5.33	5.33	0.75918	Phosphotyrosine interaction domain (3);Pleckstrin homology-type (1);	0.000000	0.85682	D	0.000000	T	0.47451	0.1446	M	0.69358	2.11	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.77004	0.989;0.977	T	0.45249	-0.9274	10	0.66056	D	0.02	-12.7388	19.0219	0.92919	0.0:1.0:0.0:0.0	.	249;249	Q9Y3P9;Q9Y3P9-4	RBGP1_HUMAN;.	W	249;249;80	ENSP00000362751:R249W	ENSP00000324973:R249W	R	+	1	2	RABGAP1	124791551	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.908000	0.63307	2.481000	0.83766	0.484000	0.47621	CGG		0.418	RABGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053976.3	NM_012197		14	45	0	0	0	1	0	14	45					T	125751730	C	T	125751730	3	4	121	1	0	0	0	0	1	0	0	0	12964	643	23	2	759	2	RABGAP1	9	125751730	Missense_Mutation	SNP	C	TCGA-EJ-A65F-01A-21D-A30X-08	2164876	125751730	15461701	47	6384											
PPP2R4	5524	broad.mit.edu	37	chr9	131885404	131885404	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gaagaagctgaccttcgagtAcagagtctccgaggtaggcc	11	7	13	10	2	1	3	0	1	1	2	3	6	1	3	3	2	2	3	3	2	4	3			TCGA-EJ-A65F-01A-21D-A30X-08	TCGA-EJ-A65F-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c17cad55-fb48-4813-8f26-083d3ece8ffa	17d98e3b-65f0-4395-8fdd-11ce4ccfc917	g.chr9:131885404A>G	ENST00000337738.1	+	3	470	c.203A>G	c.(202-204)tAc>tGc	p.Y68C	PPP2R4_ENST00000357197.4_Intron|PPP2R4_ENST00000355007.3_Missense_Mutation_p.Y68C|PPP2R4_ENST00000347048.4_Intron|PPP2R4_ENST00000393370.2_Missense_Mutation_p.Y68C|PPP2R4_ENST00000348141.5_Missense_Mutation_p.Y74C|PPP2R4_ENST00000452489.2_Missense_Mutation_p.Y68C|PPP2R4_ENST00000358994.4_Missense_Mutation_p.Y68C	NM_178001.2	NP_821068.1	Q15257	PTPA_HUMAN	protein phosphatase 2A activator, regulatory subunit 4	68					ATP catabolic process (GO:0006200)|mitotic spindle organization in nucleus (GO:0030472)|negative regulation of phosphoprotein phosphatase activity (GO:0032515)|negative regulation of protein dephosphorylation (GO:0035308)|positive regulation of apoptotic process (GO:0043065)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of protein dephosphorylation (GO:0035307)|protein folding (GO:0006457)|protein peptidyl-prolyl isomerization (GO:0000413)|regulation of phosphoprotein phosphatase activity (GO:0043666)	calcium channel complex (GO:0034704)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|protein phosphatase type 2A complex (GO:0000159)	ATP binding (GO:0005524)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase type 2A regulator activity (GO:0008601)|protein tyrosine phosphatase activator activity (GO:0008160)|receptor binding (GO:0005102)			breast(3)|endometrium(1)|kidney(1)|lung(3)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	12		Medulloblastoma(224;0.235)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0178)		ACCTTCGAGTACAGAGTCTCC	0.532																																					Colon(158;2158 2504 4450 20433)	ENST00000337738.1																			0				breast(3)|endometrium(1)|kidney(1)|lung(3)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	12						c.(202-204)tAc>tGc		protein phosphatase 2A activator, regulatory subunit 4							104	96	99					9																	131885404		2203	4300	6503	SO:0001583	missense	5524				ATP catabolic process|negative regulation of phosphoprotein phosphatase activity|negative regulation of protein dephosphorylation|positive regulation of apoptosis|positive regulation of phosphoprotein phosphatase activity|positive regulation of protein dephosphorylation	calcium channel complex|cytoplasm|nucleus|protein phosphatase type 2A complex|soluble fraction	ATP binding|peptidyl-prolyl cis-trans isomerase activity|protein heterodimerization activity|protein homodimerization activity|protein phosphatase 2A binding|protein phosphatase type 2A regulator activity|protein tyrosine phosphatase activator activity|receptor binding	g.chr9:131885404A>G	X73478	CCDS6920.1, CCDS65156.1, CCDS75917.1	9q34	2010-06-18	2007-01-22		ENSG00000119383	ENSG00000119383		"Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"	9308	protein-coding gene	gene with protein product	"phosphotyrosyl phosphatase activator", "PP2A phosphatase activator"	600756	"protein phosphatase 2A, regulatory subunit B' (PR 53)"			8530035	Standard	NM_021131		Approved	PTPA, PR53	uc004bxm.2	Q15257	OTTHUMG00000020774	ENST00000337738.1:c.203A>G	9.37:g.131885404A>G	ENSP00000337448:p.Tyr68Cys					PPP2R4_ENST00000347048.4_Intron|PPP2R4_ENST00000358994.4_Missense_Mutation_p.Y68C|PPP2R4_ENST00000348141.5_Missense_Mutation_p.Y74C|PPP2R4_ENST00000355007.3_Missense_Mutation_p.Y68C|PPP2R4_ENST00000452489.2_Missense_Mutation_p.Y68C|PPP2R4_ENST00000393370.2_Missense_Mutation_p.Y68C|PPP2R4_ENST00000357197.4_Intron	p.Y68C	NM_178001.2	NP_821068.1	Q15257	PTPA_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;0.0178)	3	470	+		Medulloblastoma(224;0.235)	68					A2A347|A9IZU4|B4DXM4|Q15258|Q53GZ3|Q5TZQ2|Q9BUK1|Q9NNZ7|Q9NNZ8|Q9NNZ9	Missense_Mutation	SNP	ENST00000337738.1	37	c.203A>G		.	.	.	.	.	.	.	.	.	.	A	15.29	2.791088	0.50102	.	.	ENSG00000119383	ENST00000358994;ENST00000455292;ENST00000393370;ENST00000337738;ENST00000348141;ENST00000452489;ENST00000445241;ENST00000355007;ENST00000417728;ENST00000453358;ENST00000417504;ENST00000440346	T;T;T;T;T;T;T;T;T;T;T;T	0.30448	1.53;1.53;1.53;1.53;1.53;1.53;1.53;1.56;1.57;1.53;1.53;1.53	5.56	5.56	0.83823	.	0.000000	0.85682	D	0.000000	T	0.22085	0.0532	N	0.13168	0.305	0.80722	D	1	B;B;B;B;B	0.22146	0.065;0.002;0.017;0.0;0.0	B;B;B;B;B	0.26094	0.066;0.008;0.009;0.001;0.001	T	0.05068	-1.0908	10	0.49607	T	0.09	-28.0262	14.5424	0.68005	1.0:0.0:0.0:0.0	.	68;68;68;68;68	B4DLX5;B4DZF8;Q15257-4;Q15257;Q15257-2	.;.;.;PTPA_HUMAN;.	C	68;68;68;68;74;68;68;68;33;33;91;33	ENSP00000351885:Y68C;ENSP00000395499:Y68C;ENSP00000377036:Y68C;ENSP00000337448:Y68C;ENSP00000335200:Y74C;ENSP00000394338:Y68C;ENSP00000406997:Y68C;ENSP00000347109:Y68C;ENSP00000403542:Y33C;ENSP00000393092:Y33C;ENSP00000400314:Y91C;ENSP00000393796:Y33C	ENSP00000337448:Y68C	Y	+	2	0	PPP2R4	130925225	1.000000	0.71417	0.998000	0.56505	0.903000	0.53119	5.547000	0.67249	2.115000	0.64714	0.402000	0.26972	TAC		0.532	PPP2R4-201	KNOWN	basic	protein_coding	protein_coding		NM_021131		4	168	0	0	0	1	0	4	168					G	131885404	A	G	131885404	3	3	121	1	0	0	0	0	1	0	0	0	12391	391	14	4	213	4	PPP2R4	9	131885404	Missense_Mutation	SNP	A	TCGA-EJ-A65F-01A-21D-A30X-08	6133674	131885404	9328027	48	6385											
FAM178A	55719	broad.mit.edu	37	chr10	102684617	102684618	+	Frame_Shift_Ins	INS	-	-	TA																															agtgatgaggaagaggaaacINSattaaagtcactggaagaaa																								rs552868319		TCGA-EJ-A65F-01A-21D-A30X-08	TCGA-EJ-A65F-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c17cad55-fb48-4813-8f26-083d3ece8ffa	17d98e3b-65f0-4395-8fdd-11ce4ccfc917	g.chr10:102684617_102684618insTA	ENST00000238961.4	+	5	2401_2402	c.1859_1860insTA	c.(1858-1863)acattafs	p.L621fs	FAM178A_ENST00000370269.3_Frame_Shift_Ins_p.L621fs|FAM178A_ENST00000370271.3_Frame_Shift_Ins_p.L621fs	NM_018121.3	NP_060591.3	Q8IX21	F178A_HUMAN	family with sequence similarity 178, member A	621						chromatin (GO:0000785)|extracellular space (GO:0005615)|nucleus (GO:0005634)											GAAGAGGAAACATTAAAGTCAC	0.416																																						ENST00000238961.3																			0											c.(1858-1860)attfs		family with sequence similarity 178, member A																																				SO:0001589	frameshift_variant	0							g.chr10:102684617_102684618insTA	AF460991	CCDS7500.1, CCDS44470.1, CCDS65918.1	10q24.31	2008-07-18	2008-07-18	2008-07-18	ENSG00000119906	ENSG00000119906			17814	protein-coding gene	gene with protein product		610348	"chromosome 10 open reading frame 6"	C10orf6		12459258	Standard	NM_018121		Approved	FLJ10512, FLJ25012	uc001krs.3	Q8IX21	OTTHUMG00000018919	Exception_encountered	10.37:g.102684617_102684618insTA	ENSP00000238961:p.Leu621fs					FAM178A_ENST00000370271.3_Frame_Shift_Ins_p.I620fs|FAM178A_ENST00000370269.3_Frame_Shift_Ins_p.I620fs	p.I620fs	NM_018121.3	NP_060591.3	Q8IX21	F178A_HUMAN			5	2007_2008	+			620					A8K950|B1AL17|Q5W0L8|Q6GMU6|Q9NPE8	Frame_Shift_Ins	INS	ENST00000238961.4	37	c.1859_1860insTA	CCDS7500.1																																																																																				0.416	FAM178A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049897.3			31	77						31	77	---	---	---	---	TA	102684618	-	TA	102684617	7	5	121	1	0	1	1	0	0	0	0	0	5503	478	17	0	1877	0	FAM178A	10	102684617	Frame_Shift_Ins	INS	-	TCGA-EJ-A65F-01A-21D-A30X-08		102684617	32850130	49	6386											
TACC2	10579	broad.mit.edu	37	chr10	123970866	123970866	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaagatgaaaaagacacccgAgaaacttgacaacactcctg	19	5	7	10	1	0	5	0	2	0	3	1	6	1	5	2	0	2	0	2	0	5	1			TCGA-EJ-A65F-01A-21D-A30X-08	TCGA-EJ-A65F-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c17cad55-fb48-4813-8f26-083d3ece8ffa	17d98e3b-65f0-4395-8fdd-11ce4ccfc917	g.chr10:123970866A>T	ENST00000369005.1	+	9	7266	c.6926A>T	c.(6925-6927)gAg>gTg	p.E2309V	TACC2_ENST00000369004.3_Missense_Mutation_p.E387V|TACC2_ENST00000358010.1_Missense_Mutation_p.E455V|TACC2_ENST00000369000.1_Missense_Mutation_p.E13V|TACC2_ENST00000513429.1_Missense_Mutation_p.E455V|TACC2_ENST00000515273.1_Missense_Mutation_p.E2313V|TACC2_ENST00000334433.3_Missense_Mutation_p.E2309V|TACC2_ENST00000515603.1_Missense_Mutation_p.E2264V|TACC2_ENST00000368999.1_Missense_Mutation_p.E387V|TACC2_ENST00000453444.2_Missense_Mutation_p.E2313V|TACC2_ENST00000360561.3_Missense_Mutation_p.E387V|TACC2_ENST00000369001.1_Missense_Mutation_p.E13V|TACC2_ENST00000260733.3_Missense_Mutation_p.E387V	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	2309					astral microtubule organization (GO:0030953)|cerebral cortex development (GO:0021987)|interkinetic nuclear migration (GO:0022027)|neurogenesis (GO:0022008)|regulation of microtubule-based process (GO:0032886)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleus (GO:0005634)	nuclear hormone receptor binding (GO:0035257)			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				AAGACACCCGAGAAACTTGAC	0.493																																						ENST00000369005.1																			0				NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83						c.(6925-6927)gAg>gTg		transforming, acidic coiled-coil containing protein 2							113	114	114					10																	123970866		2203	4300	6503	SO:0001583	missense	10579					microtubule organizing center|nucleus	nuclear hormone receptor binding	g.chr10:123970866A>T	AF095791	CCDS7625.1, CCDS7626.1, CCDS7627.1, CCDS7628.1	10q26	2008-07-29			ENSG00000138162	ENSG00000138162			11523	protein-coding gene	gene with protein product		605302				14767476	Standard	XM_005269388		Approved	AZU-1	uc001lfv.3	O95359	OTTHUMG00000019181	ENST00000369005.1:c.6926A>T	10.37:g.123970866A>T	ENSP00000358001:p.Glu2309Val					TACC2_ENST00000360561.3_Missense_Mutation_p.E387V|TACC2_ENST00000260733.3_Missense_Mutation_p.E387V|TACC2_ENST00000369000.1_Missense_Mutation_p.E13V|TACC2_ENST00000358010.1_Missense_Mutation_p.E455V|TACC2_ENST00000453444.2_Missense_Mutation_p.E2313V|TACC2_ENST00000369004.3_Missense_Mutation_p.E387V|TACC2_ENST00000369001.1_Missense_Mutation_p.E13V|TACC2_ENST00000368999.1_Missense_Mutation_p.E387V|TACC2_ENST00000515603.1_Missense_Mutation_p.E2264V|TACC2_ENST00000515273.1_Missense_Mutation_p.E2313V|TACC2_ENST00000334433.3_Missense_Mutation_p.E2309V|TACC2_ENST00000513429.1_Missense_Mutation_p.E455V	p.E2309V	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN			9	7266	+		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)	2309					Q4VXL0|Q4VXL3|Q4VXL6|Q4VXL7|Q5U5T7|Q86WG6|Q86WG7|Q8TCK9|Q9BVQ1|Q9NZ41|Q9NZR5	Missense_Mutation	SNP	ENST00000369005.1	37	c.6926A>T	CCDS7626.1	.	.	.	.	.	.	.	.	.	.	A	18.24	3.579391	0.65878	.	.	ENSG00000138162	ENST00000369005;ENST00000513429;ENST00000515273;ENST00000515603;ENST00000334433;ENST00000358010;ENST00000453444;ENST00000340076;ENST00000369001;ENST00000369000;ENST00000360561;ENST00000368999;ENST00000369004;ENST00000260733;ENST00000514539;ENST00000496913	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.23552	3.77;3.35;3.82;3.81;3.77;3.35;3.82;1.93;1.9;3.2;3.21;3.2;3.22;2.84;2.27	5.02	5.02	0.67125	.	0.000000	0.37393	N	0.002107	T	0.51041	0.1651	M	0.78637	2.42	0.54753	D	0.999985	D;D;D;D;D;D;D;D;D;D	0.89917	1.0;0.999;1.0;1.0;0.999;1.0;1.0;0.995;1.0;1.0	D;D;D;D;D;D;D;D;D;D	0.91635	0.999;0.998;0.996;0.999;0.998;0.999;0.999;0.951;0.999;0.999	T	0.49916	-0.8888	10	0.30854	T	0.27	-20.4695	15.0406	0.71788	1.0:0.0:0.0:0.0	.	404;2313;387;2264;2313;387;387;13;455;2309	E9PGB3;E9PBC6;D6RAA5;E7EMZ9;B7ZMJ9;O95359-6;O95359-1;O95359-2;O95359-5;O95359	.;.;.;.;.;.;.;.;.;TACC2_HUMAN	V	2309;455;2313;2264;2309;455;2313;2299;13;13;387;387;387;387;404;48	ENSP00000358001:E2309V;ENSP00000425062:E455V;ENSP00000424467:E2313V;ENSP00000427618:E2264V;ENSP00000334280:E2309V;ENSP00000350701:E455V;ENSP00000395048:E2313V;ENSP00000357997:E13V;ENSP00000357996:E13V;ENSP00000353763:E387V;ENSP00000357995:E387V;ENSP00000422815:E387V;ENSP00000260733:E387V;ENSP00000420967:E404V;ENSP00000422725:E48V	ENSP00000260733:E387V	E	+	2	0	TACC2	123960856	1.000000	0.71417	0.986000	0.45419	0.968000	0.65278	7.172000	0.77604	2.022000	0.59522	0.454000	0.30748	GAG		0.493	TACC2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090004.1			40	74	0	0	0	1	0	40	74					T	123970866	A	T	123970866	3	4	121	1	0	0	0	0	1	0	0	0	15499	304	11	5	7028	5	TACC2	10	123970866	Missense_Mutation	SNP	A	TCGA-EJ-A65F-01A-21D-A30X-08	21286249	123970866	11563881	50	6387											
ADAM12	8038	broad.mit.edu	37	chr10	127730776	127730776	+	Intron	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tggccctggccgcgctccctGttggactctgcagcttcctg	2	11	12	16	2	1	0	0	0	1	0	3	1	3	1	4	3	2	4	4	3	0	2			TCGA-EJ-A65F-01A-21D-A30X-08	TCGA-EJ-A65F-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c17cad55-fb48-4813-8f26-083d3ece8ffa	17d98e3b-65f0-4395-8fdd-11ce4ccfc917	g.chr10:127730776G>A	ENST00000368679.4	-	18	2423				ADAM12_ENST00000368676.4_Silent_p.N714N	NM_003474.4	NP_003465.3	O43184	ADA12_HUMAN	ADAM metallopeptidase domain 12						cell adhesion (GO:0007155)|epidermal growth factor receptor signaling pathway (GO:0007173)|myoblast fusion (GO:0007520)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|SH3 domain binding (GO:0017124)|zinc ion binding (GO:0008270)			biliary_tract(1)|breast(7)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69		all_epithelial(44;7.06e-05)|all_lung(145;0.00563)|Lung NSC(174;0.00834)|Colorectal(57;0.102)|all_neural(114;0.107)|Breast(234;0.22)		COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.216)		CGCGCTCCCTGTTGGACTCTG	0.562																																						ENST00000368676.4																			0				biliary_tract(1)|breast(7)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						c.(2140-2142)aaC>aaT		ADAM metallopeptidase domain 12							82	64	70					10																	127730776		2203	4300	6503	SO:0001627	intron_variant	8038				cell adhesion|epidermal growth factor receptor signaling pathway|myoblast fusion|proteolysis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|protein binding|SH3 domain binding|zinc ion binding	g.chr10:127730776G>A	AF023476	CCDS7653.1, CCDS7654.1	10q26	2008-07-29	2008-07-29		ENSG00000148848	ENSG00000148848		"ADAM metallopeptidase domain containing"	190	protein-coding gene	gene with protein product	"meltrin alpha"	602714	"a disintegrin and metalloproteinase domain 12 (meltrin alpha)"			9417060, 18342566	Standard	NM_003474		Approved	MCMPMltna, MLTN	uc001ljk.2	O43184	OTTHUMG00000019243	ENST00000368679.4:c.2113+832C>T	10.37:g.127730776G>A						ADAM12_ENST00000368679.4_Intron	p.N714N	NM_021641.3	NP_067673.2	O43184	ADA12_HUMAN		COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.216)	19	2451	-		all_epithelial(44;7.06e-05)|all_lung(145;0.00563)|Lung NSC(174;0.00834)|Colorectal(57;0.102)|all_neural(114;0.107)|Breast(234;0.22)	0					O60470|Q5JRP0|Q5JRP1|Q6P9E3|Q6UWB0	Silent	SNP	ENST00000368679.4	37	c.2142C>T	CCDS7653.1																																																																																				0.562	ADAM12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050961.1			5	41	0	0	0	1	0	5	41					A	127730776	G	A	127730776	1	1	121	0	1	0	0	0	0	0	0	0	236	1368	48	3		3	ADAM12	10	127730776	Intron	SNP	G	TCGA-EJ-A65F-01A-21D-A30X-08	3759910	127730776	7803971	51	6388											
OR56A4	120793	broad.mit.edu	37	chr11	6024110	6024110	+	Frame_Shift_Del	DEL	A	A	-																															tagctcccatggccaggaggAagagaaggctgaggggcaga																										TCGA-EJ-A65F-01A-21D-A30X-08	TCGA-EJ-A65F-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c17cad55-fb48-4813-8f26-083d3ece8ffa	17d98e3b-65f0-4395-8fdd-11ce4ccfc917	g.chr11:6024110delA	ENST00000330728.4	-	1	314	c.269delT	c.(268-270)ttcfs	p.F90fs		NM_001005179.2	NP_001005179.2	Q8NGH8	O56A4_HUMAN	olfactory receptor, family 56, subfamily A, member 4	38						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(4)|large_intestine(5)|lung(17)|ovary(1)|skin(1)|urinary_tract(1)	32		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GGCCAGGAGGAAGAGAAGGCT	0.592																																						ENST00000330728.4																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(4)|large_intestine(5)|lung(17)|ovary(1)|skin(1)|urinary_tract(1)	32						c.(268-270)tcfs		olfactory receptor, family 56, subfamily A, member 4							76	73	74					11																	6024110		2201	4296	6497	SO:0001589	frameshift_variant	120793				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:6024110delA	BK004255	CCDS31404.1	11p15.4	2012-08-09			ENSG00000183389	ENSG00000183389		"GPCR / Class A : Olfactory receptors"	14791	protein-coding gene	gene with protein product							Standard	NM_001005179		Approved		uc010qzv.2	Q8NGH8	OTTHUMG00000165376	ENST00000330728.4:c.269delT	11.37:g.6024110delA	ENSP00000328215:p.Phe90fs						p.F90fs	NM_001005179.2	NP_001005179.2	Q8NGH8	O56A4_HUMAN		Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	314	-		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)	38					B9EH17	Frame_Shift_Del	DEL	ENST00000330728.4	37	c.269delT	CCDS31404.1																																																																																				0.592	OR56A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383756.2	NM_001005179		17	38						17	38	---	---	---	---	-	6024110	A	-	6024110	7	5	121	1	0	1	0	1	0	0	0	0	11135	246	9	0	830	0	OR56A4	11	6024110	Frame_Shift_Del	DEL	A	TCGA-EJ-A65F-01A-21D-A30X-08		6024110	128982406	52	6389											
SPON1	10418	broad.mit.edu	37	chr11	13984532	13984532	+	RNA	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgcccctggccgcggcgctGgccttctccgacgagaccct	3	7	12	19	5	1	1	0	0	1	1	2	3	1	1	6	3	1	1	6	3	0	1			TCGA-EJ-A65F-01A-21D-A30X-08	TCGA-EJ-A65F-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c17cad55-fb48-4813-8f26-083d3ece8ffa	17d98e3b-65f0-4395-8fdd-11ce4ccfc917	g.chr11:13984532G>C	ENST00000310358.7	+	0	619							Q9HCB6	SPON1_HUMAN	spondin 1, extracellular matrix protein						cell adhesion (GO:0007155)	extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|endometrium(1)|large_intestine(5)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)	21				Epithelial(150;0.00898)		CCGCGGCGCTGGCCTTCTCCG	0.706																																						ENST00000310358.7																			0				NS(1)|endometrium(1)|large_intestine(5)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)	21								spondin 1, extracellular matrix protein							6	7	7					11																	13984532		1981	4109	6090			10418				cell adhesion	extracellular space|proteinaceous extracellular matrix	protein binding	g.chr11:13984532G>C	AB018305	CCDS73262.1	11p15.2	2014-05-06	2004-03-05		ENSG00000152268	ENSG00000262655			11252	protein-coding gene	gene with protein product		604989	"spondin 1, (f-spondin) extracellular matrix protein"			9872452	Standard	NM_006108		Approved	KIAA0762, f-spondin	uc001mle.3	Q9HCB6	OTTHUMG00000181576		11.37:g.13984532G>C										Q9HCB6	SPON1_HUMAN		Epithelial(150;0.00898)	0	619	+								A8K6W5|O94862|Q8NCD7|Q8WUR5	RNA	SNP	ENST00000310358.7	37																																																																																						0.706	SPON1-201	KNOWN	basic	processed_transcript	processed_transcript		NM_145584		6	14	0	0	0	1	0	6	14					C	13984532	G	C	13984532	1	2	121	0	1	0	0	0	0	0	0	0	15081	1335	47	5		5	SPON1	11	13984532	RNA	SNP	G	TCGA-EJ-A65F-01A-21D-A30X-08	7960422	13984532	121021984	53	6390											
MRGPRX1	259249	broad.mit.edu	37	chr11	18955439	18955439	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caccttcatccacctcagacGcgtcctgcagagccctctgg	7	8	8	18	2	3	2	2	0	1	2	5	2	5	2	5	1	2	1	5	1	0	1	rs183845903		TCGA-EJ-A65F-01A-21D-A30X-08	TCGA-EJ-A65F-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c17cad55-fb48-4813-8f26-083d3ece8ffa	17d98e3b-65f0-4395-8fdd-11ce4ccfc917	g.chr11:18955439G>A	ENST00000302797.3	-	1	1117	c.893C>T	c.(892-894)gCg>gTg	p.A298V	RP11-583F24.8_ENST00000528646.1_RNA|MRGPRX1_ENST00000526914.1_5'Flank	NM_147199.3	NP_671732.3	Q96LB2	MRGX1_HUMAN	MAS-related GPR, member X1	298				AS -> TP (in Ref. 2; AAL86880). {ECO:0000305}.	acute-phase response (GO:0006953)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|pancreas(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						CACCTCAGACGCGTCCTGCAG	0.562													G|||	1	0.000199681	8e-04	0	5008	,	,		24102	0		0	False		,,,				2504	0					ENST00000302797.3																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|pancreas(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						c.(892-894)gCg>gTg		MAS-related GPR, member X1							71	67	69					11																	18955439		2194	4286	6480	SO:0001583	missense	259249				acute-phase response	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr11:18955439G>A		CCDS7846.1	11p15.1	2013-10-10			ENSG00000170255	ENSG00000170255		"GPCR / Class A : Orphans"	17962	protein-coding gene	gene with protein product		607227				11551509	Standard	NM_147199		Approved	MRGX1	uc001mpg.3	Q96LB2	OTTHUMG00000162655	ENST00000302797.3:c.893C>T	11.37:g.18955439G>A	ENSP00000305766:p.Ala298Val						p.A298V	NM_147199.3	NP_671732.3	Q96LB2	MRGX1_HUMAN			1	1117	-			298	AS -> TP (in Ref. 2; AAL86880).				Q4V9L2|Q8TDD8|Q8TDD9	Missense_Mutation	SNP	ENST00000302797.3	37	c.893C>T	CCDS7846.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	.	10.27	1.304888	0.23736	.	.	ENSG00000170255	ENST00000302797	T	0.20332	2.08	2.28	1.35	0.21983	.	0.891913	0.09559	N	0.785768	T	0.06188	0.0160	N	0.00926	-1.1	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.35748	-0.9776	10	0.30078	T	0.28	.	4.4439	0.11588	0.331:0.0:0.669:0.0	.	298	Q96LB2	MRGX1_HUMAN	V	298	ENSP00000305766:A298V	ENSP00000305766:A298V	A	-	2	0	MRGPRX1	18912015	0.000000	0.05858	0.036000	0.18154	0.088000	0.18126	-0.652000	0.05366	0.512000	0.28257	0.491000	0.48974	GCG		0.562	MRGPRX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369913.1	NM_147199		21	36	0	0	0	1	0	21	36					A	18955439	G	A	18955439	3	1	121	1	0	0	0	0	1	0	0	0	9766	1087	38	1	79	1	MRGPRX1	11	18955439	Missense_Mutation	SNP	G	TCGA-EJ-A65F-01A-21D-A30X-08	4970907	18955439	116051077	54	6391											
LRP4	4038	broad.mit.edu	37	chr11	46917845	46917845	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctctgcccaatgcagcgccCattccaacacaggaactggt	10	7	8	16	1	1	0	0	0	1	0	2	1	2	1	4	2	5	1	4	2	3	1			TCGA-EJ-A65F-01A-21D-A30X-08	TCGA-EJ-A65F-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c17cad55-fb48-4813-8f26-083d3ece8ffa	17d98e3b-65f0-4395-8fdd-11ce4ccfc917	g.chr11:46917845C>G	ENST00000378623.1	-	9	1206	c.964G>C	c.(964-966)Ggg>Cgg	p.G322R		NM_002334.3	NP_002325.2	O75096	LRP4_HUMAN	low density lipoprotein receptor-related protein 4	322	LDL-receptor class A 8. {ECO:0000255|PROSITE-ProRule:PRU00124}.				dendrite morphogenesis (GO:0048813)|dorsal/ventral pattern formation (GO:0009953)|embryonic digit morphogenesis (GO:0042733)|endocytosis (GO:0006897)|extracellular matrix organization (GO:0030198)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|limb development (GO:0060173)|negative regulation of axonogenesis (GO:0050771)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of ossification (GO:0030279)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of presynaptic membrane organization (GO:1901631)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|protein heterotetramerization (GO:0051290)|proximal/distal pattern formation (GO:0009954)|regulation of protein phosphorylation (GO:0001932)|skeletal muscle acetylcholine-gated channel clustering (GO:0071340)|synapse organization (GO:0050808)|synaptic growth at neuromuscular junction (GO:0051124)|Wnt signaling pathway (GO:0016055)	cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|postsynaptic density (GO:0014069)|synaptic membrane (GO:0097060)	calcium ion binding (GO:0005509)|receptor tyrosine kinase binding (GO:0030971)|scaffold protein binding (GO:0097110)			breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70				Lung(87;0.159)		ATGCAGCGCCCATTCCAACAC	0.577																																						ENST00000378623.1																			0				breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70						c.(964-966)Ggg>Cgg		low density lipoprotein receptor-related protein 4							95	90	92					11																	46917845		2201	4299	6500	SO:0001583	missense	4038				endocytosis|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to membrane	calcium ion binding|receptor activity	g.chr11:46917845C>G	AB011540	CCDS31478.1	11p11.2	2013-05-29			ENSG00000134569	ENSG00000134569		"Low density lipoprotein receptors"	6696	protein-coding gene	gene with protein product		604270				9693030	Standard	NM_002334		Approved	MEGF7, CLSS, LRP-4, SOST2	uc001ndn.4	O75096	OTTHUMG00000166700	ENST00000378623.1:c.964G>C	11.37:g.46917845C>G	ENSP00000367888:p.Gly322Arg						p.G322R	NM_002334.3	NP_002325.2	O75096	LRP4_HUMAN		Lung(87;0.159)	9	1206	-			322			LDL-receptor class A 8.		B2RN39|Q4AC85|Q5KTZ5	Missense_Mutation	SNP	ENST00000378623.1	37	c.964G>C	CCDS31478.1	.	.	.	.	.	.	.	.	.	.	C	23.1	4.377982	0.82682	.	.	ENSG00000134569	ENST00000378623	T	0.49139	0.79	5.75	3.84	0.44239	Growth factor, receptor (1);	0.061174	0.64402	D	0.000003	T	0.58906	0.2155	M	0.68317	2.08	0.80722	D	1	D	0.59357	0.985	P	0.58013	0.831	T	0.58387	-0.7645	10	0.49607	T	0.09	.	10.525	0.44943	0.134:0.7972:0.0:0.0688	.	322	O75096	LRP4_HUMAN	R	322	ENSP00000367888:G322R	ENSP00000367888:G322R	G	-	1	0	LRP4	46874421	0.999000	0.42202	0.844000	0.33320	0.992000	0.81027	4.030000	0.57260	0.733000	0.32492	0.655000	0.94253	GGG		0.577	LRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391133.1	NM_002334		33	67	0	0	0	1	0	33	67					G	46917845	C	G	46917845	3	3	121	1	0	0	0	0	1	0	0	0	8959	594	21	5	4873	5	LRP4	11	46917845	Missense_Mutation	SNP	C	TCGA-EJ-A65F-01A-21D-A30X-08	27962406	46917845	88088671	55	6392											
LRMP	55259	broad.mit.edu	37	chr12	25260815	25260815	+	IGR	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcagaaaggctaataaggccCtctggctctctattgcattc	10	12	8	11	0	3	1	1	0	2	1	5	1	3	1	1	3	1	3	1	3	4	5			TCGA-EJ-A65F-01A-21D-A30X-08	TCGA-EJ-A65F-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c17cad55-fb48-4813-8f26-083d3ece8ffa	17d98e3b-65f0-4395-8fdd-11ce4ccfc917	g.chr12:25260815C>T	ENST00000320267.9	-	0	2361				LRMP_ENST00000354454.3_Missense_Mutation_p.L441F|LRMP_ENST00000548766.1_Missense_Mutation_p.L441F|LRMP_ENST00000547044.1_Missense_Mutation_p.L441F	NM_001082973.1	NP_001076442	Q6TDU7	CASC1_HUMAN	cancer susceptibility candidate 1											breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(3)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31	Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Melanoma(3;0.0301)|Colorectal(261;0.11)		OV - Ovarian serous cystadenocarcinoma(3;7.42e-20)|Epithelial(3;7.58e-16)|all cancers(3;1.07e-13)			TAATAAGGCCCTCTGGCTCTC	0.438																																						ENST00000354454.3																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	19						c.(1321-1323)Ctc>Ttc		lymphoid-restricted membrane protein							112	102	106					12																	25260815		2203	4300	6503	SO:0001628	intergenic_variant	4033				vesicle fusion|vesicle targeting	endoplasmic reticulum membrane|integral to plasma membrane		g.chr12:25260815C>T	AK093102	CCDS31759.2, CCDS41762.1, CCDS41763.1, CCDS55810.1, CCDS55811.1	12p12.1	2012-04-17			ENSG00000118307	ENSG00000118307		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	29599	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 54"					14583591	Standard	NM_018272		Approved	LAS1, FLJ10921, PPP1R54	uc001rgk.3	Q6TDU7	OTTHUMG00000150195		12.37:g.25260815C>T						LRMP_ENST00000548766.1_Missense_Mutation_p.L441F|LRMP_ENST00000547044.1_Missense_Mutation_p.L441F	p.L441F	NM_006152.3	NP_006143.2	Q12912	LRMP_HUMAN			21	2150	+	Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Colorectal(261;0.11)		497					B4DNP2|F5H6T6|Q17RL2|Q4G171|Q5U5K5|Q9NV50	Missense_Mutation	SNP	ENST00000320267.9	37	c.1321C>T	CCDS41762.1	.	.	.	.	.	.	.	.	.	.	C	14.06	2.422789	0.43020	.	.	ENSG00000118308	ENST00000354454;ENST00000536173;ENST00000548766;ENST00000547044	T;T;T;T	0.20738	2.05;2.05;2.05;2.05	5.53	3.72	0.42706	.	0.331422	0.28388	N	0.015531	T	0.42040	0.1185	M	0.71581	2.175	0.36232	D	0.852699	D	0.89917	1.0	D	0.91635	0.999	T	0.50783	-0.8787	10	0.72032	D	0.01	-2.2449	8.8942	0.35453	0.0:0.6408:0.2829:0.0763	.	497	Q12912	LRMP_HUMAN	F	441;388;441;441	ENSP00000346442:L441F;ENSP00000444056:L388F;ENSP00000446496:L441F;ENSP00000450246:L441F	ENSP00000346442:L441F	L	+	1	0	LRMP	25152082	0.008000	0.16893	0.203000	0.23512	0.361000	0.29550	0.238000	0.18004	0.709000	0.31976	-0.266000	0.10368	CTC		0.438	CASC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000316761.1	NM_018272		19	71	0	0	0	1	0	19	71					T	25260815	C	T	25260815	1	4	121	0	1	0	0	0	0	0	0	0	8950	681	24	3		3	LRMP	12	25260815	IGR	SNP	C	TCGA-EJ-A65F-01A-21D-A30X-08		25260815	108591080	56	6393											
PLXNC1	10154	broad.mit.edu	37	chr12	94637768	94637768	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tttgatgtaattgacaacttAatcatttcacatgaattaaa	16	16	4	5	0	2	3	2	3	0	0	2	3	2	3	0	0	1	1	0	0	6	6			TCGA-EJ-A65F-01A-21D-A30X-08	TCGA-EJ-A65F-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c17cad55-fb48-4813-8f26-083d3ece8ffa	17d98e3b-65f0-4395-8fdd-11ce4ccfc917	g.chr12:94637768A>T	ENST00000258526.4	+	12	2604	c.2355A>T	c.(2353-2355)ttA>ttT	p.L785F		NM_005761.2	NP_005752.1	O60486	PLXC1_HUMAN	plexin C1	785					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)|receptor binding (GO:0005102)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(12)|lung(30)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						TTGACAACTTAATCATTTCAC	0.328																																						ENST00000258526.4																			0				breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(12)|lung(30)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						c.(2353-2355)ttA>ttT		plexin C1							129	121	123					12																	94637768		2202	4299	6501	SO:0001583	missense	10154				axon guidance|cell adhesion	integral to membrane|intracellular|plasma membrane	receptor activity|receptor binding	g.chr12:94637768A>T	AF030339	CCDS9049.1	12q23	2009-04-17				ENSG00000136040		"CD molecules", "Plexins"	9106	protein-coding gene	gene with protein product		604259					Standard	NR_037687		Approved	VESPR, CD232	uc001tdc.3	O60486	OTTHUMG00000170235	ENST00000258526.4:c.2355A>T	12.37:g.94637768A>T	ENSP00000258526:p.Leu785Phe						p.L785F	NM_005761.2	NP_005752.1	O60486	PLXC1_HUMAN			12	2604	+			785					Q59H25	Missense_Mutation	SNP	ENST00000258526.4	37	c.2355A>T	CCDS9049.1	.	.	.	.	.	.	.	.	.	.	A	16.90	3.249387	0.59103	.	.	ENSG00000136040	ENST00000258526	T	0.77489	-1.1	5.56	3.16	0.36331	Cell surface receptor IPT/TIG (2);Immunoglobulin-like fold (1);	0.313316	0.29544	N	0.011853	T	0.76572	0.4006	L	0.34521	1.04	0.80722	D	1	D	0.76494	0.999	D	0.75484	0.986	T	0.73477	-0.3970	10	0.52906	T	0.07	.	1.61	0.02692	0.5642:0.1446:0.1526:0.1387	.	785	O60486	PLXC1_HUMAN	F	785	ENSP00000258526:L785F	ENSP00000258526:L785F	L	+	3	2	PLXNC1	93161899	0.984000	0.35163	1.000000	0.80357	0.986000	0.74619	0.267000	0.18552	0.458000	0.26988	-0.353000	0.07706	TTA		0.328	PLXNC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408126.2			18	24	0	0	0	1	0	18	24					T	94637768	A	T	94637768	3	4	121	1	0	0	0	0	1	0	0	0	12126	359	13	5	2401	5	PLXNC1	12	94637768	Missense_Mutation	SNP	A	TCGA-EJ-A65F-01A-21D-A30X-08	69376953	94637768	39214127	57	6394											
IQCD	115811	broad.mit.edu	37	chr12	113645503	113645503	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggggttgctgagcaagagtcTaaggacgttcttggtggagt	8	11	17	5	1	2	2	0	1	2	1	2	4	2	4	0	5	2	4	0	5	2	4			TCGA-EJ-A65F-01A-21D-A30X-08	TCGA-EJ-A65F-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c17cad55-fb48-4813-8f26-083d3ece8ffa	17d98e3b-65f0-4395-8fdd-11ce4ccfc917	g.chr12:113645503T>C	ENST00000416617.2	-	2	659	c.469A>G	c.(469-471)Aga>Gga	p.R157G	IQCD_ENST00000299732.2_Missense_Mutation_p.R157G|IQCD_ENST00000546692.1_Missense_Mutation_p.R157G			Q96DY2	IQCD_HUMAN	IQ motif containing D	157										endometrium(2)|large_intestine(4)|lung(1)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	12						AGCAAGAGTCTAAGGACGTTC	0.527																																						ENST00000546692.1																			0				endometrium(2)|large_intestine(4)|lung(1)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	12						c.(469-471)Aga>Gga		IQ motif containing D							107	101	103					12																	113645503		2203	4300	6503	SO:0001583	missense	115811							g.chr12:113645503T>C	BC013151	CCDS9167.1	12q24.21	2014-07-18				ENSG00000166578			25168	protein-coding gene	gene with protein product	"dynein regulatory complex subunit 10"					23427265, 24804578	Standard	NM_138451		Approved	DRC10, CFAP84	uc001tuu.3	Q96DY2		ENST00000416617.2:c.469A>G	12.37:g.113645503T>C	ENSP00000400669:p.Arg157Gly					IQCD_ENST00000416617.2_Missense_Mutation_p.R157G|IQCD_ENST00000299732.2_Missense_Mutation_p.R157G	p.R157G			Q96DY2	IQCD_HUMAN			2	842	-			157					Q6ZSU0	Missense_Mutation	SNP	ENST00000416617.2	37	c.469A>G		.	.	.	.	.	.	.	.	.	.	T	17.01	3.280311	0.59758	.	.	ENSG00000166578	ENST00000299732;ENST00000416617;ENST00000546692;ENST00000392574	T;T;T	0.09911	2.93;2.93;2.93	4.72	0.828	0.18841	.	0.000000	0.64402	D	0.000001	T	0.30198	0.0757	M	0.76328	2.33	0.38683	D	0.952583	D;D	0.89917	1.0;0.999	D;D	0.87578	0.998;0.982	T	0.09975	-1.0650	10	0.87932	D	0	-23.9018	13.0661	0.59034	0.0:0.0:0.5849:0.4151	.	157;157	F8VZV9;Q96DY2-2	.;.	G	157	ENSP00000299732:R157G;ENSP00000400669:R157G;ENSP00000446623:R157G	ENSP00000299732:R157G	R	-	1	2	IQCD	112129886	0.977000	0.34250	0.036000	0.18154	0.244000	0.25665	0.457000	0.21875	-0.014000	0.14175	0.460000	0.39030	AGA		0.527	IQCD-004	KNOWN	not_organism_supported|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000405327.1	NM_138451		12	131	0	0	0	1	0	12	131					C	113645503	T	C	113645503	3	2	121	1	0	0	0	0	1	0	0	0	7805	1530	53	4	582	4	IQCD	12	113645503	Missense_Mutation	SNP	T	TCGA-EJ-A65F-01A-21D-A30X-08	19007735	113645503	20206392	58	6395											
NOS1	4842	broad.mit.edu	37	chr12	117660556	117660556	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcccgggagtaagccgtgtaCagctctctgaagaccccctt	8	9	10	14	2	1	2	0	1	1	1	3	3	2	3	4	1	3	3	4	1	3	3			TCGA-EJ-A65F-01A-21D-A30X-08	TCGA-EJ-A65F-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c17cad55-fb48-4813-8f26-083d3ece8ffa	17d98e3b-65f0-4395-8fdd-11ce4ccfc917	g.chr12:117660556C>T	ENST00000338101.4	-	26	4045	c.4041G>A	c.(4039-4041)ctG>ctA	p.L1347L	NOS1_ENST00000317775.6_Silent_p.L1313L|NOS1_ENST00000344089.3_3'UTR			Q8WY41	NANO1_HUMAN	nitric oxide synthase 1 (neuronal)	0					cell migration (GO:0016477)|epithelial cell migration (GO:0010631)|negative regulation of translation (GO:0017148)	cytoplasm (GO:0005737)|perinuclear region of cytoplasm (GO:0048471)	RNA binding (GO:0003723)|translation repressor activity (GO:0030371)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)		AAGCCGTGTACAGCTCTCTGA	0.577																																					Esophageal Squamous(162;1748 2599 51982 52956)	ENST00000317775.6																			0				NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						c.(3937-3939)ctG>ctA		nitric oxide synthase 1 (neuronal)	L-Citrulline(DB00155)						147	149	149					12																	117660556		1952	4140	6092	SO:0001819	synonymous_variant	4842				multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding	g.chr12:117660556C>T		CCDS41842.1, CCDS55890.1	12q24.22	2013-09-19			ENSG00000089250	ENSG00000089250	1.14.13.39		7872	protein-coding gene	gene with protein product		163731		NOS		1385308, 7682706	Standard	NM_001204213		Approved	nNOS	uc001twn.2	P29475	OTTHUMG00000137376	ENST00000338101.4:c.4041G>A	12.37:g.117660556C>T						NOS1_ENST00000344089.3_3'UTR|NOS1_ENST00000338101.4_Silent_p.L1347L	p.L1313L	NM_000620.4|NM_001204218.1	NP_000611.1|NP_001191147.1	P29475	NOS1_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.0561)	26	4624	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		1313						Silent	SNP	ENST00000338101.4	37	c.3939G>A	CCDS55890.1																																																																																				0.577	NOS1-002	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000268053.1			8	189	0	0	0	1	0	8	189					T	117660556	C	T	117660556	2	4	121	1	0	0	0	0	0	0	0	1	10541	465	17	3		3	NOS1	12	117660556	Silent	SNP	C	TCGA-EJ-A65F-01A-21D-A30X-08	4015053	117660556	16191339	59	6396											
GPR133	283383	broad.mit.edu	37	chr12	131490521	131490521	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	tctgctctctctgcagcctgGagcaccgtcgtgggtctgct	3	12	12	14	2	4	0	0	0	4	0	6	1	4	1	2	2	5	4	2	2	0	0			TCGA-EJ-A65F-01A-21D-A30X-08	TCGA-EJ-A65F-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c17cad55-fb48-4813-8f26-083d3ece8ffa	17d98e3b-65f0-4395-8fdd-11ce4ccfc917	g.chr12:131490521G>C	ENST00000261654.5	+	12	1819	c.1260G>C	c.(1258-1260)tgG>tgC	p.W420C	GPR133_ENST00000376682.4_Missense_Mutation_p.W106C|GPR133_ENST00000535015.1_Missense_Mutation_p.W452C	NM_198827.3	NP_942122.2	Q6QNK2	GP133_HUMAN	G protein-coupled receptor 133	420					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(2)|endometrium(6)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|pancreas(6)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	67	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)		CTGCAGCCTGGAGCACCGTCG	0.642																																						ENST00000261654.5																			0				NS(2)|breast(2)|endometrium(6)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|pancreas(6)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	67						c.(1258-1260)tgG>tgC		G protein-coupled receptor 133							85	65	72					12																	131490521		2203	4300	6503	SO:0001583	missense	283383				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr12:131490521G>C	AY278561	CCDS9272.1	12q24.33	2014-08-08			ENSG00000111452	ENSG00000111452		"-", "GPCR / Class B : Orphans"	19893	protein-coding gene	gene with protein product		613639					Standard	NM_198827		Approved	DKFZp434B1272, PGR25	uc001uit.4	Q6QNK2	OTTHUMG00000168339	ENST00000261654.5:c.1260G>C	12.37:g.131490521G>C	ENSP00000261654:p.Trp420Cys					GPR133_ENST00000535015.1_Missense_Mutation_p.W452C|GPR133_ENST00000376682.4_Missense_Mutation_p.W106C	p.W420C	NM_198827.3	NP_942122.2	Q6QNK2	GP133_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)	12	1819	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)		420					B2CKK9|B7ZLF7|Q2M1L3|Q6ZMQ1|Q7Z7M2|Q86SM4	Missense_Mutation	SNP	ENST00000261654.5	37	c.1260G>C	CCDS9272.1	.	.	.	.	.	.	.	.	.	.	G	15.71	2.914324	0.52546	.	.	ENSG00000111452	ENST00000261654;ENST00000535015;ENST00000544673;ENST00000545900;ENST00000376682	T;T;T	0.47177	0.92;0.91;0.85	4.56	4.56	0.56223	.	0.168310	0.42420	D	0.000714	T	0.57272	0.2042	L	0.57536	1.79	0.80722	D	1	D;D	0.71674	0.998;0.996	P;P	0.57324	0.818;0.749	T	0.56860	-0.7909	10	0.38643	T	0.18	.	12.8172	0.57671	0.0:0.0:1.0:0.0	.	452;420	B7ZLF7;Q6QNK2	.;GP133_HUMAN	C	420;452;111;116;106	ENSP00000261654:W420C;ENSP00000444425:W452C;ENSP00000365872:W106C	ENSP00000261654:W420C	W	+	3	0	GPR133	130056474	1.000000	0.71417	1.000000	0.80357	0.720000	0.41350	2.911000	0.48774	2.069000	0.61940	0.313000	0.20887	TGG		0.642	GPR133-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399356.1	NM_198827		14	30	0	0	0	1	0	14	30					C	131490521	G	C	131490521	3	2	121	1	0	0	0	0	1	0	0	0	6643	1183	41	5	1306	5	GPR133	12	131490521	Missense_Mutation	SNP	G	TCGA-EJ-A65F-01A-21D-A30X-08	13829965	131490521	2361374	60	6397											
ANKLE2	23141	broad.mit.edu	37	chr12	133324779	133324779	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gataccgggggttgctccagAtaaggtcagaaaaggtgtcc	11	8	14	8	1	1	2	1	0	0	2	3	3	3	2	3	4	2	2	3	4	4	3			TCGA-EJ-A65F-01A-21D-A30X-08	TCGA-EJ-A65F-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c17cad55-fb48-4813-8f26-083d3ece8ffa	17d98e3b-65f0-4395-8fdd-11ce4ccfc917	g.chr12:133324779A>G	ENST00000357997.5	-	4	1075	c.986T>C	c.(985-987)aTc>aCc	p.I329T	ANKLE2_ENST00000337516.5_Missense_Mutation_p.I329T|ANKLE2_ENST00000539605.1_Missense_Mutation_p.I267T	NM_015114.1	NP_055929.1	Q86XL3	ANKL2_HUMAN	ankyrin repeat and LEM domain containing 2	329					mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope reassembly (GO:0007084)|negative regulation of phosphorylation (GO:0042326)|positive regulation of protein dephosphorylation (GO:0035307)|regulation of catalytic activity (GO:0050790)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)	protein phosphatase 2A binding (GO:0051721)|protein phosphatase type 2A regulator activity (GO:0008601)			NS(2)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|lung(20)|ovary(1)|urinary_tract(2)	45	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.3e-08)|Epithelial(86;1.56e-07)|all cancers(50;4.94e-06)		GTTGCTCCAGATAAGGTCAGA	0.597																																						ENST00000539605.1																			0				NS(2)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|lung(20)|ovary(1)|urinary_tract(2)	45						c.(799-801)aTc>aCc		ankyrin repeat and LEM domain containing 2							118	117	117					12																	133324779		1998	4162	6160	SO:0001583	missense	23141					cytoplasm|integral to membrane|nuclear envelope		g.chr12:133324779A>G	AB014592	CCDS41869.1	12q24.33	2013-01-11	2008-03-25	2008-03-25	ENSG00000176915	ENSG00000176915		"Ankyrin repeat domain containing"	29101	protein-coding gene	gene with protein product	"LEM domain containing 7"		"KIAA0692"	KIAA0692		9734811	Standard	XM_005266159		Approved	LEMD7, Lem4	uc001ukx.2	Q86XL3	OTTHUMG00000168046	ENST00000357997.5:c.986T>C	12.37:g.133324779A>G	ENSP00000350686:p.Ile329Thr					ANKLE2_ENST00000357997.5_Missense_Mutation_p.I329T|ANKLE2_ENST00000337516.5_Missense_Mutation_p.I329T	p.I267T			Q86XL3	ANKL2_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;2.3e-08)|Epithelial(86;1.56e-07)|all cancers(50;4.94e-06)	3	7484	-	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)	329					A8KAG3|B3KN97|B3KSF8|O75176|Q6P6A5|Q8TAZ9|Q96DH4	Missense_Mutation	SNP	ENST00000357997.5	37	c.800T>C	CCDS41869.1	.	.	.	.	.	.	.	.	.	.	a	10.69	1.421691	0.25639	.	.	ENSG00000176915	ENST00000539605;ENST00000357997;ENST00000337516;ENST00000545623	T;T;T;T	0.41758	0.99;0.99;0.99;0.99	5.52	4.36	0.52297	Ankyrin repeat-containing domain (1);	0.475254	0.24654	N	0.036686	T	0.34193	0.0889	L	0.46885	1.475	0.41152	D	0.986031	B;B	0.29766	0.027;0.256	B;B	0.22386	0.039;0.035	T	0.12863	-1.0531	10	0.49607	T	0.09	-14.4061	10.6774	0.45794	0.9221:0.0:0.0779:0.0	.	329;329	Q86XL3-2;Q86XL3	.;ANKL2_HUMAN	T	267;329;329;99	ENSP00000446268:I267T;ENSP00000350686:I329T;ENSP00000337651:I329T;ENSP00000438515:I99T	ENSP00000337651:I329T	I	-	2	0	ANKLE2	131834852	1.000000	0.71417	0.756000	0.31282	0.063000	0.16089	7.121000	0.77160	0.908000	0.36671	0.460000	0.39030	ATC		0.597	ANKLE2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397712.1			8	29	0	0	0	1	0	8	29					G	133324779	A	G	133324779	3	3	121	1	0	0	0	0	1	0	0	0	633	333	12	4	1870	4	ANKLE2	12	133324779	Missense_Mutation	SNP	A	TCGA-EJ-A65F-01A-21D-A30X-08	1834258	133324779	527116	61	6398											
CDH24	64403	broad.mit.edu	37	chr14	23522821	23522821	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctgggtgaaggcaggtggCtctggggcatcttgcactgc	5	9	17	10	0	2	1	0	1	2	0	2	1	2	1	1	6	2	4	1	6	1	1			TCGA-EJ-A65F-01A-21D-A30X-08	TCGA-EJ-A65F-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c17cad55-fb48-4813-8f26-083d3ece8ffa	17d98e3b-65f0-4395-8fdd-11ce4ccfc917	g.chr14:23522821C>T	ENST00000267383.5	-	6	1202	c.1110G>A	c.(1108-1110)gaG>gaA	p.E370E	CDH24_ENST00000554034.1_Silent_p.E370E|CDH24_ENST00000397359.3_Silent_p.E370E|CDH24_ENST00000487137.2_Silent_p.E370E			Q86UP0	CAD24_HUMAN	cadherin 24, type 2	370	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)|delta-catenin binding (GO:0070097)			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	26	all_cancers(95;3.3e-05)			GBM - Glioblastoma multiforme(265;0.00654)		AGGCAGGTGGCTCTGGGGCAT	0.647																																						ENST00000397359.3																			0				breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	26						c.(1108-1110)gaG>gaA		cadherin 24, type 2							61	56	58					14																	23522821		2203	4300	6503	SO:0001819	synonymous_variant	64403				adherens junction organization|cell junction assembly|cell-cell adhesion|homophilic cell adhesion	cell-cell junction|integral to membrane	alpha-catenin binding|beta-catenin binding|calcium ion binding|delta-catenin binding	g.chr14:23522821C>T	AL137477	CCDS9585.1, CCDS9586.1	14q11.2	2010-08-20	2009-11-20		ENSG00000139880	ENSG00000139880		"Cadherins / Major cadherins"	14265	protein-coding gene	gene with protein product			"cadherin-like 24"			12734196	Standard	NM_022478		Approved	CDH11L	uc001wil.3	Q86UP0	OTTHUMG00000028715	ENST00000267383.5:c.1110G>A	14.37:g.23522821C>T						CDH24_ENST00000554034.1_Silent_p.E370E|CDH24_ENST00000487137.2_Silent_p.E370E|CDH24_ENST00000267383.5_Silent_p.E370E	p.E370E	NM_022478.3	NP_071923.2	Q86UP0	CAD24_HUMAN		GBM - Glioblastoma multiforme(265;0.00654)	7	1369	-	all_cancers(95;3.3e-05)		370			Cadherin 3.		D3DS44|Q86UP1|Q9NT84	Silent	SNP	ENST00000267383.5	37	c.1110G>A	CCDS9585.1																																																																																				0.647	CDH24-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000257241.2	NM_022478		28	57	0	0	0	1	0	28	57					T	23522821	C	T	23522821	2	4	121	1	0	0	0	0	0	0	0	1	3109	796	28	3		3	CDH24	14	23522821	Silent	SNP	C	TCGA-EJ-A65F-01A-21D-A30X-08		23522821	83826719	62	6399											
C14orf115	55237	broad.mit.edu	37	chr14	74823853	74823853	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacactactacctccagggcAtgatcgactccaaagtgatg	12	8	9	12	1	0	2	0	2	0	0	3	4	2	2	3	1	2	1	3	1	3	2			TCGA-EJ-A65F-01A-21D-A30X-08	TCGA-EJ-A65F-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c17cad55-fb48-4813-8f26-083d3ece8ffa	17d98e3b-65f0-4395-8fdd-11ce4ccfc917	g.chr14:74823853A>T	ENST00000256362.4	+	2	608	c.367A>T	c.(367-369)Atg>Ttg	p.M123L		NM_018228.2	NP_060698.2	Q9H8Y1	VRTN_HUMAN	vertebrae development associated	123					transposition, DNA-mediated (GO:0006313)		sequence-specific DNA binding (GO:0043565)|transposase activity (GO:0004803)			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(15)|ovary(5)|prostate(2)|skin(1)|urinary_tract(1)	41						CCTCCAGGGCATGATCGACTC	0.642																																						ENST00000256362.4																			0				NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(15)|ovary(5)|prostate(2)|skin(1)|urinary_tract(1)	41						c.(367-369)Atg>Ttg		vertebrae development associated							70	65	67					14																	74823853		2203	4300	6503	SO:0001583	missense	55237				transposition, DNA-mediated		DNA binding|transposase activity	g.chr14:74823853A>T	AK001673	CCDS9830.1	14q24.2	2012-12-07	2012-12-07	2010-10-20	ENSG00000133980	ENSG00000133980			20223	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 115", "vertebrae development homolog (pig)"	C14orf115		21232157	Standard	NM_018228		Approved	FLJ10811, vertnin	uc001xpw.4	Q9H8Y1	OTTHUMG00000171208	ENST00000256362.4:c.367A>T	14.37:g.74823853A>T	ENSP00000256362:p.Met123Leu						p.M123L	NM_018228.2	NP_060698.2	Q9H8Y1	VRTN_HUMAN			2	608	+			123					Q9NVC7	Missense_Mutation	SNP	ENST00000256362.4	37	c.367A>T	CCDS9830.1	.	.	.	.	.	.	.	.	.	.	A	21.9	4.212882	0.79352	.	.	ENSG00000133980	ENST00000256362	T	0.41065	1.01	5.04	5.04	0.67666	.	0.000000	0.85682	D	0.000000	T	0.50292	0.1607	L	0.27053	0.805	0.48901	D	0.999725	D	0.64830	0.994	D	0.70716	0.97	T	0.54695	-0.8255	10	0.87932	D	0	-8.9416	13.4832	0.61348	1.0:0.0:0.0:0.0	.	123	Q9H8Y1	VRTN_HUMAN	L	123	ENSP00000256362:M123L	ENSP00000256362:M123L	M	+	1	0	VRTN	73893606	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.320000	0.89995	2.119000	0.64992	0.454000	0.30748	ATG		0.642	VRTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412339.1	NM_018228		4	42	0	0	0	1	0	4	42					T	74823853	A	T	74823853	3	4	121	1	0	0	0	0	1	0	0	0	1740	217	8	5	369	5	C14orf115	14	74823853	Missense_Mutation	SNP	A	TCGA-EJ-A65F-01A-21D-A30X-08	51301032	74823853	32525687	63	6400											
BTBD7	55727	broad.mit.edu	37	chr14	93709033	93709033	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgttttttaggagacgtctgAccaggtaggtaggctgactt	8	14	13	6	1	1	3	0	2	1	1	1	4	1	3	1	4	0	4	1	4	3	6			TCGA-EJ-A65F-01A-21D-A30X-08	TCGA-EJ-A65F-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c17cad55-fb48-4813-8f26-083d3ece8ffa	17d98e3b-65f0-4395-8fdd-11ce4ccfc917	g.chr14:93709033A>T	ENST00000334746.5	-	11	3292	c.2985T>A	c.(2983-2985)ggT>ggA	p.G995G	BTBD7_ENST00000554565.1_Silent_p.G644G|BTBD7_ENST00000393170.2_Silent_p.G569G	NM_001002860.2	NP_001002860.2	Q9P203	BTBD7_HUMAN	BTB (POZ) domain containing 7	995					multicellular organismal development (GO:0007275)|regulation of branching involved in salivary gland morphogenesis (GO:0060693)	nucleus (GO:0005634)				breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(8)|upper_aerodigestive_tract(1)	35		all_cancers(154;0.08)		Epithelial(152;0.196)|COAD - Colon adenocarcinoma(157;0.212)|all cancers(159;0.223)		GAGACGTCTGACCAGGTAGGT	0.498																																						ENST00000334746.5																			0				breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(8)|upper_aerodigestive_tract(1)	35						c.(2983-2985)ggT>ggA		BTB (POZ) domain containing 7							154	142	146					14																	93709033		2203	4300	6503	SO:0001819	synonymous_variant	55727							g.chr14:93709033A>T	AB040958	CCDS32146.1, CCDS32147.1, CCDS73684.1	14q32.13	2013-01-08			ENSG00000011114	ENSG00000011114		"BTB/POZ domain containing"	18269	protein-coding gene	gene with protein product		610386				10819331, 11527404	Standard	NM_001289133		Approved	FLJ10648, FUP1	uc001ybo.3	Q9P203	OTTHUMG00000171269	ENST00000334746.5:c.2985T>A	14.37:g.93709033A>T						BTBD7_ENST00000393170.2_Silent_p.G569G|BTBD7_ENST00000554565.1_Silent_p.G644G	p.G995G	NM_001002860.2	NP_001002860.2	Q9P203	BTBD7_HUMAN		Epithelial(152;0.196)|COAD - Colon adenocarcinoma(157;0.212)|all cancers(159;0.223)	11	3292	-		all_cancers(154;0.08)	995					A8K5V7|Q69Z05|Q7Z308|Q86TS0|Q9HAA4|Q9NVM0	Silent	SNP	ENST00000334746.5	37	c.2985T>A	CCDS32146.1																																																																																				0.498	BTBD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412701.1	NM_001002860		9	119	0	0	0	1	0	9	119					T	93709033	A	T	93709033	2	4	121	1	0	0	0	0	0	0	0	1	1546	262	10	5		5	BTBD7	14	93709033	Silent	SNP	A	TCGA-EJ-A65F-01A-21D-A30X-08	18885180	93709033	13640507	64	6401											
UNC13C	440279	broad.mit.edu	37	chr15	54792334	54792334	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aacgaagatgtgtcaatggaAttccttcatggagcactggg	12	10	12	7	1	2	1	2	0	0	1	3	4	3	3	1	3	2	1	1	3	4	2			TCGA-EJ-A65F-01A-21D-A30X-08	TCGA-EJ-A65F-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c17cad55-fb48-4813-8f26-083d3ece8ffa	17d98e3b-65f0-4395-8fdd-11ce4ccfc917	g.chr15:54792334A>G	ENST00000260323.11	+	20	5118	c.5118A>G	c.(5116-5118)gaA>gaG	p.E1706E	UNC13C_ENST00000545554.1_Silent_p.E1706E|UNC13C_ENST00000537900.1_Silent_p.E1704E	NM_001080534.1	NP_001074003.1	Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	1706	MHD1. {ECO:0000255|PROSITE- ProRule:PRU00587}.				exocytosis (GO:0006887)|intracellular signal transduction (GO:0035556)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		TGTCAATGGAATTCCTTCATG	0.348																																						ENST00000545554.1																			0				breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121						c.(5116-5118)gaA>gaG		unc-13 homolog C (C. elegans)							118	110	113					15																	54792334		1847	4101	5948	SO:0001819	synonymous_variant	440279				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding	g.chr15:54792334A>G	AK091491	CCDS45264.1	15q21.3	2012-10-02			ENSG00000137766	ENSG00000137766			23149	protein-coding gene	gene with protein product		614568					Standard	NM_001080534		Approved	Munc13-3, DKFZp547H074	uc021smr.1	Q8NB66	OTTHUMG00000172542	ENST00000260323.11:c.5118A>G	15.37:g.54792334A>G						UNC13C_ENST00000537900.1_Silent_p.E1704E|UNC13C_ENST00000260323.11_Silent_p.E1706E	p.E1706E			Q8NB66	UN13C_HUMAN		GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)	20	5118	+			1706			MHD1.		Q0P613|Q8ND48|Q96NP3	Silent	SNP	ENST00000260323.11	37	c.5118A>G	CCDS45264.1																																																																																				0.348	UNC13C-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000419028.3	NM_173166		14	16	0	0	0	1	0	14	16					G	54792334	A	G	54792334	2	3	121	1	0	0	0	0	0	0	0	1	16983	98	4	4		4	UNC13C	15	54792334	Silent	SNP	A	TCGA-EJ-A65F-01A-21D-A30X-08		54792334	47739058	65	6402											
ZWILCH	55055	broad.mit.edu	37	chr15	66821854	66821854	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtgatttcataccaagacttGgtgaagtgtttcacattgat	11	15	9	6	0	2	4	2	3	0	1	2	4	2	4	1	1	1	1	1	1	3	5			TCGA-EJ-A65F-01A-21D-A30X-08	TCGA-EJ-A65F-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c17cad55-fb48-4813-8f26-083d3ece8ffa	17d98e3b-65f0-4395-8fdd-11ce4ccfc917	g.chr15:66821854G>A	ENST00000307897.5	+	12	1478	c.1098G>A	c.(1096-1098)ttG>ttA	p.L366L	ZWILCH_ENST00000446801.2_Silent_p.L252L|ZWILCH_ENST00000535141.2_Silent_p.L252L|ZWILCH_ENST00000565627.1_Silent_p.L252L	NM_017975.3	NP_060445.3	Q9H900	ZWILC_HUMAN	zwilch kinetochore protein	366					mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)	cytosol (GO:0005829)|kinetochore (GO:0000776)				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(1)|lung(6)|ovary(1)	18						ACCAAGACTTGGTGAAGTGTT	0.368																																						ENST00000307897.5																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(1)|lung(6)|ovary(1)	18						c.(1096-1098)ttG>ttA		zwilch kinetochore protein							168	149	155					15																	66821854		2201	4299	6500	SO:0001819	synonymous_variant	55055				cell division|mitotic cell cycle checkpoint|mitotic prometaphase	condensed chromosome kinetochore|cytosol	protein binding	g.chr15:66821854G>A	AK023175	CCDS10219.1, CCDS73746.1	15q22.31	2013-01-17	2012-12-13		ENSG00000174442	ENSG00000174442			25468	protein-coding gene	gene with protein product		609984	"Zwilch, kinetochore associated, homolog (Drosophila)"			12686595	Standard	NM_017975		Approved	FLJ10036, KNTC1AP	uc002aqb.3	Q9H900	OTTHUMG00000133194	ENST00000307897.5:c.1098G>A	15.37:g.66821854G>A						ZWILCH_ENST00000446801.2_Silent_p.L252L|ZWILCH_ENST00000535141.2_Silent_p.L252L|ZWILCH_ENST00000565627.1_Silent_p.L252L	p.L366L	NM_017975.3	NP_060445.3	Q9H900	ZWILC_HUMAN			12	1478	+			366					B3KVB8|Q6N049|Q8N404|Q96SY7|Q9NWG7	Silent	SNP	ENST00000307897.5	37	c.1098G>A	CCDS10219.1																																																																																				0.368	ZWILCH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256904.4	NM_017975		20	39	0	0	0	1	0	20	39					A	66821854	G	A	66821854	2	1	121	1	0	0	0	0	0	0	0	1	18245	1339	47	3		3	ZWILCH	15	66821854	Silent	SNP	G	TCGA-EJ-A65F-01A-21D-A30X-08	12029520	66821854	35709538	66	6403											
SNX33	257364	broad.mit.edu	37	chr15	75941791	75941791	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggaggatgatgatgatgaCtgggatgactgggacgacgg	11	7	19	4	2	0	5	0	5	0	0	0	11	0	9	0	5	0	0	0	5	0	0			TCGA-EJ-A65F-01A-21D-A30X-08	TCGA-EJ-A65F-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c17cad55-fb48-4813-8f26-083d3ece8ffa	17d98e3b-65f0-4395-8fdd-11ce4ccfc917	g.chr15:75941791C>T	ENST00000308527.5	+	1	1545	c.348C>T	c.(346-348)gaC>gaT	p.D116D	IMP3_ENST00000565349.1_5'Flank|IMP3_ENST00000314852.2_5'Flank	NM_153271.1	NP_695003.1	Q8WV41	SNX33_HUMAN	sorting nexin 33	116	Poly-Asp.				cleavage furrow formation (GO:0036089)|endocytosis (GO:0006897)|endosomal transport (GO:0016197)|endosome organization (GO:0007032)|intracellular protein transport (GO:0006886)|macropinocytosis (GO:0044351)|membrane tubulation (GO:0097320)|mitotic cytokinesis (GO:0000281)|mitotic nuclear division (GO:0007067)|negative regulation of endocytosis (GO:0045806)|negative regulation of protein localization to cell surface (GO:2000009)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|positive regulation of protein localization to cell surface (GO:2000010)|protein import (GO:0017038)	cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endosome (GO:0005768)|extrinsic component of membrane (GO:0019898)|membrane (GO:0016020)	identical protein binding (GO:0042802)|phosphatidylinositol binding (GO:0035091)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)|soft_tissue(1)|urinary_tract(2)	19						ATGATGATGACTGGGATGACT	0.622																																						ENST00000308527.5																			0				breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)|soft_tissue(1)|urinary_tract(2)	19						c.(346-348)gaC>gaT		sorting nexin 33							82	79	80					15																	75941791		2197	4294	6491	SO:0001819	synonymous_variant	257364				cell communication		phosphatidylinositol binding|protein binding	g.chr15:75941791C>T	AK091291	CCDS10283.1	15q23	2008-04-18	2008-03-25	2008-03-25	ENSG00000173548	ENSG00000173548			28468	protein-coding gene	gene with protein product			"SH3 and PX domain containing 3"	SH3PX3		16374509, 16782399, 18353773	Standard	NM_153271		Approved	MGC32065, SH3PXD3C, SNX30	uc002bau.3	Q8WV41	OTTHUMG00000142835	ENST00000308527.5:c.348C>T	15.37:g.75941791C>T							p.D116D	NM_153271.1	NP_695003.1	Q8WV41	SNX33_HUMAN			1	1545	+			116			Poly-Asp.		B1NM17	Silent	SNP	ENST00000308527.5	37	c.348C>T	CCDS10283.1																																																																																				0.622	SNX33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286471.1	NM_153271		4	127	0	0	0	1	0	4	127					T	75941791	C	T	75941791	2	4	121	1	0	0	0	0	0	0	0	1	14903	564	20	3		3	SNX33	15	75941791	Silent	SNP	C	TCGA-EJ-A65F-01A-21D-A30X-08	9119937	75941791	26589601	67	6404											
RHCG	51458	broad.mit.edu	37	chr15	90016010	90016010	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	agccatgggtagtggggacaCcatgggtactgagggtactg	9	8	17	7	0	0	1	0	1	0	0	0	2	0	2	2	5	3	3	2	5	3	3			TCGA-EJ-A65F-01A-21D-A30X-08	TCGA-EJ-A65F-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c17cad55-fb48-4813-8f26-083d3ece8ffa	17d98e3b-65f0-4395-8fdd-11ce4ccfc917	g.chr15:90016010C>A	ENST00000268122.4	-	10	1464	c.1396G>T	c.(1396-1398)Gtg>Ttg	p.V466L	RHCG_ENST00000544600.1_Intron	NM_016321.1	NP_057405.1	Q9UBD6	RHCG_HUMAN	Rh family, C glycoprotein	466					amine transport (GO:0015837)|ammonium transmembrane transport (GO:0072488)|ammonium transport (GO:0015696)|cellular ion homeostasis (GO:0006873)|epithelial cell differentiation (GO:0030855)|homeostatic process (GO:0042592)|regulation of pH (GO:0006885)|transepithelial ammonium transport (GO:0070634)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ammonium transmembrane transporter activity (GO:0008519)|ankyrin binding (GO:0030506)			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Lung NSC(78;0.0237)|all_lung(78;0.0478)					AGTGGGGACACCATgggtact	0.597																																						ENST00000268122.4																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(1396-1398)Gtg>Ttg		Rh family, C glycoprotein							127	89	102					15																	90016010		2200	4294	6494	SO:0001583	missense	51458				amine transport|cellular ion homeostasis|epithelial cell differentiation|transepithelial ammonium transport	apical plasma membrane|basolateral plasma membrane|cytoplasmic vesicle|integral to plasma membrane	ammonia transmembrane transporter activity|ammonium transmembrane transporter activity|ankyrin binding	g.chr15:90016010C>A	AF081497	CCDS10351.1	15q25	2013-05-22	2006-02-23		ENSG00000140519	ENSG00000140519		"Solute carriers"	18140	protein-coding gene	gene with protein product		605381	"chromosome 15 open reading frame 6", "Rhesus blood group, C glycoprotein"	C15orf6		10852913	Standard	NM_016321		Approved	RHGK, PDRC2, SLC42A3	uc002bnz.2	Q9UBD6	OTTHUMG00000149647	ENST00000268122.4:c.1396G>T	15.37:g.90016010C>A	ENSP00000268122:p.Val466Leu					RHCG_ENST00000544600.1_Intron	p.V466L	NM_016321.1	NP_057405.1	Q9UBD6	RHCG_HUMAN			10	1464	-	Lung NSC(78;0.0237)|all_lung(78;0.0478)		466					A8K4D4|Q6X3Y4	Missense_Mutation	SNP	ENST00000268122.4	37	c.1396G>T	CCDS10351.1	.	.	.	.	.	.	.	.	.	.	C	6.826	0.521571	0.13005	.	.	ENSG00000140519	ENST00000268122;ENST00000536247	T	0.20332	2.08	1.74	0.81	0.18732	.	3.603330	0.01030	N	0.004135	T	0.12518	0.0304	N	0.14661	0.345	0.09310	N	0.999999	B	0.10296	0.003	B	0.04013	0.001	T	0.18178	-1.0345	9	.	.	.	.	4.3351	0.11081	0.0:0.7895:0.0:0.2105	.	466	Q9UBD6	RHCG_HUMAN	L	466;457	ENSP00000268122:V466L	.	V	-	1	0	RHCG	87817014	0.001000	0.12720	0.000000	0.03702	0.002000	0.02628	-0.217000	0.09253	0.297000	0.22615	-0.137000	0.14449	GTG		0.597	RHCG-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000312855.2	NM_016321		4	1	1	0	0.00909568	1	0.00928322	4	1					A	90016010	C	A	90016010	3	1	121	1	0	0	0	0	1	0	0	0	13326	507	18	5	47	5	RHCG	15	90016010	Missense_Mutation	SNP	C	TCGA-EJ-A65F-01A-21D-A30X-08	14074219	90016010	12515382	68	6405											
OR4F6	390648	broad.mit.edu	37	chr15	102346462	102346470	+	In_Frame_Del	DEL	TCTTCCTCG	TCTTCCTCG	-																															ttagatagtttcttttgtgaTcttcctcgatttatcaaact																								rs372436170|rs368805567		TCGA-EJ-A65F-01A-21D-A30X-08	TCGA-EJ-A65F-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c17cad55-fb48-4813-8f26-083d3ece8ffa	17d98e3b-65f0-4395-8fdd-11ce4ccfc917	g.chr15:102346462_102346470delTCTTCCTCG	ENST00000328882.4	+	1	561_569	c.540_548delTCTTCCTCG	c.(538-549)gatcttcctcga>gaa	p.180_183DLPR>E		NM_001005326.1	NP_001005326.1	Q8NGB9	OR4F6_HUMAN	olfactory receptor, family 4, subfamily F, member 6	180						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|large_intestine(1)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.00039)|Lung(145;0.17)|LUSC - Lung squamous cell carcinoma(107;0.187)			TCTTTTGTGATCTTCCTCGATTTATCAAA	0.368																																						ENST00000328882.4																			0				breast(1)|large_intestine(1)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						c.(538-549)gaa>ga		olfactory receptor, family 4, subfamily F, member 6																																				SO:0001651	inframe_deletion	390648				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr15:102346462_102346470delTCTTCCTCG	AC025234	CCDS32341.1	15q26.3	2014-02-19	2002-02-28		ENSG00000184140	ENSG00000184140		"GPCR / Class A : Olfactory receptors"	15372	protein-coding gene	gene with protein product			"olfactory receptor, family 4, subfamily F, member 12"	OR4F12			Standard	NM_001005326		Approved		uc010utr.2	Q8NGB9	OTTHUMG00000172267	ENST00000328882.4:c.540_548delTCTTCCTCG	15.37:g.102346462_102346470delTCTTCCTCG	ENSP00000327525:p.Asp180_Arg183delinsGlu						p.DLPR180del	NM_001005326.1	NP_001005326.1	Q8NGB9	OR4F6_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.00039)|Lung(145;0.17)|LUSC - Lung squamous cell carcinoma(107;0.187)		1	561_569	+	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		180					B9EH28|Q6IF95	In_Frame_Del	DEL	ENST00000328882.4	37	c.540_548delTCTTCCTCG	CCDS32341.1																																																																																				0.368	OR4F6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417593.1			14	108						14	108	---	---	---	---	-	102346470	TCTTCCTCG	-	102346462	7	5	121	1	0	1	0	1	0	0	0	0	11066	1432	50	0	542	0	OR4F6	15	102346462	In_Frame_Del	DEL	TCTTCCTCG	TCGA-EJ-A65F-01A-21D-A30X-08	12330452	102346462	184930	69	6406											
FAM173A	65990	broad.mit.edu	37	chr16	771822	771822	+	Frame_Shift_Del	DEL	G	G	-																															tgctggcggcccacaggtgcGgcctccgcccggccgtgggc																										TCGA-EJ-A65F-01A-21D-A30X-08	TCGA-EJ-A65F-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c17cad55-fb48-4813-8f26-083d3ece8ffa	17d98e3b-65f0-4395-8fdd-11ce4ccfc917	g.chr16:771822delG	ENST00000569529.1	+	3	589	c.289delG	c.(289-291)ggcfs	p.G97fs	FAM173A_ENST00000219535.3_Frame_Shift_Del_p.G97fs|FAM173A_ENST00000564000.1_Frame_Shift_Del_p.G97fs	NM_023933.2	NP_076422.1	Q9BQD7	F173A_HUMAN	family with sequence similarity 173, member A	97						integral component of membrane (GO:0016021)				pancreas(1)	1						CCACAGGTGCGGCCTCCGCCC	0.746																																						ENST00000564000.1																			0				pancreas(1)	1						c.(289-291)gcfs		family with sequence similarity 173, member A							5	7	6					16																	771822		2027	3978	6005	SO:0001589	frameshift_variant	65990					integral to membrane		g.chr16:771822delG	BC002624	CCDS10423.1, CCDS59254.1	16p13.3	2008-06-19	2008-06-19	2008-06-19	ENSG00000103254	ENSG00000103254			14152	protein-coding gene	gene with protein product			"chromosome 16 open reading frame 24"	C16orf24			Standard	NM_023933		Approved	MGC2494	uc002cje.4	Q9BQD7	OTTHUMG00000121177	ENST00000569529.1:c.289delG	16.37:g.771822delG	ENSP00000454380:p.Gly97fs					FAM173A_ENST00000569529.1_Frame_Shift_Del_p.G97fs|FAM173A_ENST00000219535.3_Frame_Shift_Del_p.G97fs	p.G97fs			Q9BQD7	F173A_HUMAN			3	467	+			97					A2IDD4	Frame_Shift_Del	DEL	ENST00000569529.1	37	c.289delG	CCDS10423.1																																																																																				0.746	FAM173A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000241667.2	NM_023933		2	4						2	4	---	---	---	---	-	771822	G	-	771822	7	5	121	1	0	1	0	1	0	0	0	0	5493	1116	39	0	299	0	FAM173A	16	771822	Frame_Shift_Del	DEL	G	TCGA-EJ-A65F-01A-21D-A30X-08		771822	89582931	70	6407											
KIAA0430	9665	broad.mit.edu	37	chr16	15729800	15729800	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gcaggaagacaggttactctCtagacacatgctgggaaagt	13	8	12	8	0	1	2	0	0	1	2	2	4	1	4	0	3	2	3	0	3	4	2			TCGA-EJ-A65F-01A-21D-A30X-08	TCGA-EJ-A65F-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c17cad55-fb48-4813-8f26-083d3ece8ffa	17d98e3b-65f0-4395-8fdd-11ce4ccfc917	g.chr16:15729800C>G	ENST00000396368.3	-	3	750	c.544G>C	c.(544-546)Gag>Cag	p.E182Q	KIAA0430_ENST00000540441.2_Missense_Mutation_p.E182Q|KIAA0430_ENST00000602337.1_Missense_Mutation_p.E182Q|KIAA0430_ENST00000548025.1_Missense_Mutation_p.E182Q|KIAA0430_ENST00000551742.1_Missense_Mutation_p.E182Q|KIAA0430_ENST00000344181.3_Missense_Mutation_p.E4Q	NM_001184998.1|NM_001184999.1|NM_014647.3	NP_001171927.1|NP_001171928.1|NP_055462.2	Q9Y4F3	MARF1_HUMAN	KIAA0430	182					double-strand break repair (GO:0006302)|female meiotic division (GO:0007143)|negative regulation of phosphatase activity (GO:0010923)|oogenesis (GO:0048477)|regulation of gene expression (GO:0010468)	membrane (GO:0016020)|peroxisome (GO:0005777)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			breast(4)|endometrium(8)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(5)|skin(1)	40						AGGTTACTCTCTAGACACATG	0.488																																						ENST00000396368.3																			0				breast(4)|endometrium(8)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(5)|skin(1)	40						c.(544-546)Gag>Cag		KIAA0430							125	125	125					16																	15729800		2046	4210	6256	SO:0001583	missense	9665					peroxisome	nucleotide binding|RNA binding	g.chr16:15729800C>G	AB007890	CCDS10562.2, CCDS53990.1, CCDS55991.1	16p13.11	2013-01-11			ENSG00000166783	ENSG00000166783		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	29562	protein-coding gene	gene with protein product	"limkain b1", "protein phosphatase 1, regulatory subunit 34", "meiosis arrest female 1"	614593				9455477, 10493829, 15932519, 22442484, 23090997	Standard	NM_014647		Approved	LKAP, PPP1R34, Marf1	uc010uzw.2	Q9Y4F3	OTTHUMG00000129884	ENST00000396368.3:c.544G>C	16.37:g.15729800C>G	ENSP00000379654:p.Glu182Gln					KIAA0430_ENST00000344181.3_Missense_Mutation_p.E4Q|KIAA0430_ENST00000551742.1_Missense_Mutation_p.E182Q|KIAA0430_ENST00000548025.1_Missense_Mutation_p.E182Q|KIAA0430_ENST00000540441.2_Missense_Mutation_p.E182Q|KIAA0430_ENST00000602337.1_Missense_Mutation_p.E182Q	p.E182Q	NM_001184998.1|NM_001184999.1|NM_014647.3	NP_001171927.1|NP_001171928.1|NP_055462.2	Q9Y4F3	LKAP_HUMAN			3	750	-			181					A8MSK2|B2RNX2|B4DYY9|B7ZMG1|B7ZMG2|F8VV09|Q6P1R6|Q8WYR2|Q9Y4J9	Missense_Mutation	SNP	ENST00000396368.3	37	c.544G>C	CCDS10562.2	.	.	.	.	.	.	.	.	.	.	C	22.6	4.311404	0.81358	.	.	ENSG00000166783	ENST00000396368;ENST00000540441;ENST00000321370;ENST00000344181;ENST00000548025;ENST00000551742;ENST00000551298	.	.	.	5.67	5.67	0.87782	.	0.083210	0.51477	D	0.000087	T	0.60676	0.2287	L	0.29908	0.895	0.34092	D	0.660804	D;P;P;P;P	0.63046	0.992;0.882;0.882;0.882;0.813	P;P;P;P;B	0.58873	0.847;0.603;0.603;0.603;0.398	T	0.69716	-0.5070	9	0.72032	D	0.01	-11.0192	19.773	0.96379	0.0:1.0:0.0:0.0	.	181;181;182;181;181	Q9Y4F3-6;Q9Y4F3-5;F8VV09;Q9Y4F3-4;Q9Y4F3	.;.;.;.;LKAP_HUMAN	Q	182;182;181;4;182;182;182	.	ENSP00000315718:E181Q	E	-	1	0	KIAA0430	15637301	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	4.486000	0.60286	2.677000	0.91161	0.655000	0.94253	GAG		0.488	KIAA0430-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252131.2	NM_014647		22	79	0	0	0	1	0	22	79					G	15729800	C	G	15729800	3	3	121	1	0	0	0	0	1	0	0	0	8177	922	32	5	4787	5	KIAA0430	16	15729800	Missense_Mutation	SNP	C	TCGA-EJ-A65F-01A-21D-A30X-08	14957978	15729800	74624953	71	6408											
CHD9	80205	broad.mit.edu	37	chr16	53190625	53190625	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtttctggtccacatagagtCaatgttaaccacccaccaca	12	10	6	13	0	2	1	1	0	1	1	3	1	3	1	4	1	1	2	4	1	3	3			TCGA-EJ-A65F-01A-21D-A30X-08	TCGA-EJ-A65F-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c17cad55-fb48-4813-8f26-083d3ece8ffa	17d98e3b-65f0-4395-8fdd-11ce4ccfc917	g.chr16:53190625C>T	ENST00000398510.3	+	1	711	c.624C>T	c.(622-624)gtC>gtT	p.V208V	CHD9_ENST00000447540.1_Silent_p.V208V|CHD9_ENST00000564845.1_Silent_p.V208V|CHD9_ENST00000566029.1_Silent_p.V208V			Q3L8U1	CHD9_HUMAN	chromodomain helicase DNA binding protein 9	208				V -> A (in Ref. 3; AAT66509). {ECO:0000305}.	cellular lipid metabolic process (GO:0044255)|chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78		all_cancers(37;0.0212)				CACATAGAGTCAATGTTAACC	0.388																																						ENST00000566029.1																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78						c.(622-624)gtC>gtT		chromodomain helicase DNA binding protein 9							152	145	147					16																	53190625		1871	4108	5979	SO:0001819	synonymous_variant	80205				cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleoplasm	ATP binding|DNA binding|helicase activity|protein binding	g.chr16:53190625C>T	AK022240	CCDS45485.1	16q12.2	2006-04-12				ENSG00000177200			25701	protein-coding gene	gene with protein product						9205841	Standard	XM_005256168		Approved	FLJ12178, KIAA0308, BC022889	uc002egy.3	Q3L8U1		ENST00000398510.3:c.624C>T	16.37:g.53190625C>T						CHD9_ENST00000398510.3_Silent_p.V208V|CHD9_ENST00000447540.1_Silent_p.V208V|CHD9_ENST00000564845.1_Silent_p.V208V	p.V208V			Q3L8U1	CHD9_HUMAN			2	833	+		all_cancers(37;0.0212)	208	V -> A (in Ref. 3; AAT66509).				B2RTU2|B9ZVQ0|O15025|Q1WF12|Q6DTK9|Q9H9V7|Q9UHM2	Silent	SNP	ENST00000398510.3	37	c.624C>T																																																																																					0.388	CHD9-020	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000422345.1	NM_025134		45	93	0	0	0	1	0	45	93					T	53190625	C	T	53190625	2	4	121	1	0	0	0	0	0	0	0	1	3332	813	29	3		3	CHD9	16	53190625	Silent	SNP	C	TCGA-EJ-A65F-01A-21D-A30X-08	37460825	53190625	37164128	72	6409											
KIFC3	3801	broad.mit.edu	37	chr16	57803814	57803814	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctcttccagggactgcatCtcctccagcatctgcccatg	6	11	7	17	0	3	0	0	0	3	0	7	1	6	1	5	1	3	2	5	1	0	1			TCGA-EJ-A65F-01A-21D-A30X-08	TCGA-EJ-A65F-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c17cad55-fb48-4813-8f26-083d3ece8ffa	17d98e3b-65f0-4395-8fdd-11ce4ccfc917	g.chr16:57803814C>A	ENST00000379655.4	-	8	1250	c.993G>T	c.(991-993)gaG>gaT	p.E331D	KIFC3_ENST00000562903.1_Missense_Mutation_p.E192D|KIFC3_ENST00000421376.2_Missense_Mutation_p.E192D|KIFC3_ENST00000539578.1_Missense_Mutation_p.E273D|KIFC3_ENST00000445690.2_Missense_Mutation_p.E331D|KIFC3_ENST00000541240.1_Missense_Mutation_p.E353D|KIFC3_ENST00000543930.1_Missense_Mutation_p.E192D|KIFC3_ENST00000465878.2_Missense_Mutation_p.E192D|KIFC3_ENST00000566975.1_5'Flank|KIFC3_ENST00000540079.2_Missense_Mutation_p.E229D	NM_005550.3	NP_005541.3	Q9BVG8	KIFC3_HUMAN	kinesin family member C3	331					ATP catabolic process (GO:0006200)|epithelial cell-cell adhesion (GO:0090136)|Golgi organization (GO:0007030)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|visual perception (GO:0007601)|zonula adherens maintenance (GO:0045218)	centrosome (GO:0005813)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)|zonula adherens (GO:0005915)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(2)|central_nervous_system(3)|endometrium(4)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23		all_neural(199;0.224)				GGGACTGCATCTCCTCCAGCA	0.597																																						ENST00000379655.4																			0				breast(2)|central_nervous_system(3)|endometrium(4)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23						c.(991-993)gaG>gaT		kinesin family member C3							76	65	69					16																	57803814		2198	4300	6498	SO:0001583	missense	3801				epithelial cell-cell adhesion|microtubule-based movement|visual perception|zonula adherens maintenance	centrosome|cytoplasmic vesicle membrane|kinesin complex|microtubule|zonula adherens	ATP binding|microtubule motor activity	g.chr16:57803814C>A	BC001211	CCDS10789.2, CCDS45493.1, CCDS45494.1	16q13-q21	2008-02-05			ENSG00000140859	ENSG00000140859		"Kinesins"	6326	protein-coding gene	gene with protein product		604535				9782090	Standard	NM_001130099		Approved		uc002emp.3	Q9BVG8	OTTHUMG00000133455	ENST00000379655.4:c.993G>T	16.37:g.57803814C>A	ENSP00000368976:p.Glu331Asp					KIFC3_ENST00000445690.2_Missense_Mutation_p.E331D|KIFC3_ENST00000540079.2_Missense_Mutation_p.E229D|KIFC3_ENST00000465878.2_Missense_Mutation_p.E192D|KIFC3_ENST00000421376.2_Missense_Mutation_p.E192D|KIFC3_ENST00000543930.1_Missense_Mutation_p.E192D|KIFC3_ENST00000539578.1_Missense_Mutation_p.E273D|KIFC3_ENST00000541240.1_Missense_Mutation_p.E353D|KIFC3_ENST00000562903.1_Missense_Mutation_p.E192D	p.E331D	NM_005550.3	NP_005541.3	Q9BVG8	KIFC3_HUMAN			8	1250	-		all_neural(199;0.224)	331					A8K6S2|B7Z484|O75299|Q49A29|Q49AQ0|Q59G19|Q8IUT3|Q96HW6	Missense_Mutation	SNP	ENST00000379655.4	37	c.993G>T	CCDS10789.2	.	.	.	.	.	.	.	.	.	.	C	28.2	4.903188	0.92035	.	.	ENSG00000140859	ENST00000379655;ENST00000445690;ENST00000421376;ENST00000541240;ENST00000540079;ENST00000543930;ENST00000539578	T;T;T;T;T;T;T	0.76839	-1.01;-0.99;-0.96;-1.02;-0.98;-1.05;-0.99	5.74	4.79	0.61399	.	0.000000	0.85682	D	0.000000	D	0.85448	0.5699	M	0.62723	1.935	0.53005	D	0.999966	D;D;D;D;D;D	0.89917	1.0;1.0;0.999;0.999;1.0;0.999	D;D;D;D;D;D	0.91635	0.997;0.999;0.982;0.986;0.997;0.991	D	0.85663	0.1290	10	0.49607	T	0.09	.	13.243	0.60008	0.0:0.9232:0.0:0.0768	.	353;273;192;229;331;192	B7Z484;F5H4I9;B7Z896;F5H3M2;Q9BVG8;A8K6S2	.;.;.;.;KIFC3_HUMAN;.	D	331;331;192;353;229;192;273	ENSP00000368976:E331D;ENSP00000401696:E331D;ENSP00000396399:E192D;ENSP00000442008:E353D;ENSP00000438805:E229D;ENSP00000444012:E192D;ENSP00000444884:E273D	ENSP00000368976:E331D	E	-	3	2	KIFC3	56361315	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.937000	0.63513	1.433000	0.47394	0.655000	0.94253	GAG		0.597	KIFC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257329.2	NM_005550		6	35	1	0	0.0293803	1	0.0296801	6	35					A	57803814	C	A	57803814	3	1	121	1	0	0	0	0	1	0	0	0	8314	912	32	5	1565	5	KIFC3	16	57803814	Missense_Mutation	SNP	C	TCGA-EJ-A65F-01A-21D-A30X-08	4613189	57803814	32550939	73	6410											
RABEP1	9135	broad.mit.edu	37	chr17	5266210	5266210	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	attttggtgcccttcaggtaCataatgctggaaataaactt	12	14	8	7	0	1	0	1	0	0	0	1	1	1	1	1	3	4	2	1	3	5	7			TCGA-EJ-A65F-01A-21D-A30X-08	TCGA-EJ-A65F-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c17cad55-fb48-4813-8f26-083d3ece8ffa	17d98e3b-65f0-4395-8fdd-11ce4ccfc917	g.chr17:5266210C>T	ENST00000546142.2	+	10	1754	c.1567C>T	c.(1567-1569)Cat>Tat	p.H523Y	RABEP1_ENST00000262477.6_Missense_Mutation_p.H523Y|RABEP1_ENST00000341923.6_Missense_Mutation_p.H523Y|RP11-420A6.2_ENST00000572792.1_RNA|RABEP1_ENST00000408982.2_Missense_Mutation_p.H523Y|RABEP1_ENST00000537505.1_Missense_Mutation_p.H480Y|NUP88_ENST00000573169.1_Intron			Q15276	RABE1_HUMAN	rabaptin, RAB GTPase binding effector protein 1	523					apoptotic process (GO:0006915)|endocytosis (GO:0006897)|membrane fusion (GO:0061025)|protein transport (GO:0015031)	early endosome (GO:0005769)|endocytic vesicle (GO:0030139)|endosome (GO:0005768)|intracellular membrane-bounded organelle (GO:0043231)	GTPase activator activity (GO:0005096)|protein homodimerization activity (GO:0042803)			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	8						CCTTCAGGTACATAATGCTGG	0.398																																						ENST00000262477.6																			0				NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	8						c.(1567-1569)Cat>Tat		rabaptin, RAB GTPase binding effector protein 1							110	106	107					17																	5266210		1926	4143	6069	SO:0001583	missense	9135				apoptosis|cellular membrane fusion|endocytosis|protein transport	centrosome|early endosome|endocytic vesicle|recycling endosome	growth factor activity|GTPase activator activity|protein homodimerization activity	g.chr17:5266210C>T	AF098638	CCDS42243.1, CCDS45592.1	17p13.2	2008-02-05				ENSG00000029725			17677	protein-coding gene	gene with protein product		603616				8521472	Standard	NM_001291582		Approved	neurocrescin, RAB5EP, RABPT5, rabaptin-5	uc002gbm.4	Q15276		ENST00000546142.2:c.1567C>T	17.37:g.5266210C>T	ENSP00000437701:p.His523Tyr					NUP88_ENST00000573169.1_Intron|RABEP1_ENST00000537505.1_Missense_Mutation_p.H480Y|RABEP1_ENST00000408982.2_Missense_Mutation_p.H523Y|RABEP1_ENST00000341923.6_Missense_Mutation_p.H523Y|RABEP1_ENST00000546142.2_Missense_Mutation_p.H523Y	p.H523Y	NM_004703.4	NP_004694.2	Q15276	RABE1_HUMAN			10	1791	+			523					B2RAG7|O95369|Q8IVX3	Missense_Mutation	SNP	ENST00000546142.2	37	c.1567C>T	CCDS45592.1	.	.	.	.	.	.	.	.	.	.	C	15.35	2.807667	0.50421	.	.	ENSG00000029725	ENST00000262477;ENST00000408982;ENST00000539669;ENST00000546142;ENST00000341923;ENST00000537505	T;T;T;T;T	0.43294	0.95;0.95;0.95;0.95;0.95	5.75	4.78	0.61160	Rabaptin coiled-coil domain (1);	0.214808	0.48286	N	0.000197	T	0.27731	0.0682	N	0.08118	0	0.80722	D	1	B;B;B;B;B	0.23937	0.077;0.0;0.094;0.094;0.077	B;B;B;B;B	0.28991	0.058;0.001;0.097;0.06;0.036	T	0.11591	-1.0581	10	0.52906	T	0.07	-8.6649	14.5117	0.67791	0.0:0.9294:0.0:0.0706	.	480;480;516;523;523	F5H355;B4DMM4;Q05BX6;Q15276;Q15276-2	.;.;.;RABE1_HUMAN;.	Y	523;523;516;523;523;480	ENSP00000262477:H523Y;ENSP00000386150:H523Y;ENSP00000437701:H523Y;ENSP00000339569:H523Y;ENSP00000445408:H480Y	ENSP00000262477:H523Y	H	+	1	0	RABEP1	5206934	1.000000	0.71417	0.998000	0.56505	0.984000	0.73092	4.762000	0.62250	1.586000	0.49944	0.655000	0.94253	CAT		0.398	RABEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439349.1	NM_004703		11	25	0	0	0	1	0	11	25					T	5266210	C	T	5266210	3	4	121	1	0	0	0	0	1	0	0	0	12961	478	17	3	1605	3	RABEP1	17	5266210	Missense_Mutation	SNP	C	TCGA-EJ-A65F-01A-21D-A30X-08		5266210	75929000	74	6411											
C17orf81	23587	broad.mit.edu	37	chr17	7160288	7160288	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gctcagactgaggtgaccctGggcggtaccatgggccaggc	7	6	16	12	1	1	3	1	2	0	1	1	3	1	3	3	5	1	2	3	5	1	1	rs145471666		TCGA-EJ-A65F-01A-21D-A30X-08	TCGA-EJ-A65F-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c17cad55-fb48-4813-8f26-083d3ece8ffa	17d98e3b-65f0-4395-8fdd-11ce4ccfc917	g.chr17:7160288G>A	ENST00000396628.2	+	5	787	c.570G>A	c.(568-570)ctG>ctA	p.L190L	RP1-4G17.5_ENST00000577138.1_Intron|ELP5_ENST00000356683.2_Silent_p.L190L|ELP5_ENST00000354429.2_Silent_p.L190L|ELP5_ENST00000574993.1_Silent_p.L190L|ELP5_ENST00000396627.2_Silent_p.L190L	NM_203414.1	NP_981959.1	Q8TE02	ELP5_HUMAN	elongator acetyltransferase complex subunit 5	190					chromatin organization (GO:0006325)|positive regulation of cell migration (GO:0030335)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|Elongator holoenzyme complex (GO:0033588)|nucleus (GO:0005634)											AGGTGACCCTGGGCGGTACCA	0.607																																						ENST00000574993.1																			0											c.(568-570)ctG>ctA		elongator acetyltransferase complex subunit 5							48	43	45					17																	7160288		2203	4300	6503	SO:0001819	synonymous_variant	23587							g.chr17:7160288G>A	BC002762	CCDS11094.1, CCDS11095.1	17p13.1	2012-08-14	2012-08-08	2012-08-08	ENSG00000170291	ENSG00000170291		"Elongator acetyltransferase complex subunits"	30617	protein-coding gene	gene with protein product	"dermal papilla derived protein 6", "S-phase 2 protein"	615019	"chromosome 17 open reading frame 81"	C17orf81		22854966	Standard	NM_203415		Approved	DERP6	uc002gfi.1	Q8TE02	OTTHUMG00000177974	ENST00000396628.2:c.570G>A	17.37:g.7160288G>A						RP1-4G17.5_ENST00000577138.1_Intron|ELP5_ENST00000396627.2_Silent_p.L190L|ELP5_ENST00000396628.2_Silent_p.L190L|ELP5_ENST00000354429.2_Silent_p.L190L|ELP5_ENST00000356683.2_Silent_p.L190L	p.L190L							5	787	+								A8K1M5|D3DTN9|Q659B6|Q7Z2T4|Q8TDR9|Q9BUB2|Q9Y2Q4	Silent	SNP	ENST00000396628.2	37	c.570G>A	CCDS11094.1																																																																																				0.607	ELP5-003	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000440111.1	NM_015362		3	30	0	0	0	1	0	3	30					A	7160288	G	A	7160288	2	1	121	1	0	0	0	0	0	0	0	1	1886	1335	47	3		3	C17orf81	17	7160288	Silent	SNP	G	TCGA-EJ-A65F-01A-21D-A30X-08	1894078	7160288	74034922	75	6412											
UBB	7314	broad.mit.edu	37	chr17	16285560	16285560	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggataaagaaggcatcccTcccgaccagcagaggctcat	13	5	10	13	1	1	2	1	0	0	2	3	4	3	3	3	3	1	3	3	3	3	1			TCGA-EJ-A65F-01A-21D-A30X-08	TCGA-EJ-A65F-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c17cad55-fb48-4813-8f26-083d3ece8ffa	17d98e3b-65f0-4395-8fdd-11ce4ccfc917	g.chr17:16285560T>C	ENST00000395837.1	+	2	520	c.339T>C	c.(337-339)ccT>ccC	p.P113P	UBB_ENST00000578649.1_Intron|UBB_ENST00000395839.1_Silent_p.P113P|RP11-138I1.4_ENST00000583934.1_RNA|UBB_ENST00000302182.3_Silent_p.P113P|UBB_ENST00000535788.1_Intron	NM_001281718.1|NM_001281720.1	NP_001268647.1|NP_001268649.1	P0CG47	UBB_HUMAN	ubiquitin B	113	Ubiquitin-like 2. {ECO:0000255|PROSITE- ProRule:PRU00214}.		GMQIFVKTLTGKTITLEVEPSDTIENVKAKIQDKEGIPPDQ QRLIFAGKQLEDGRTLSDYNIQKESTLHLVLRLRGGMQIFV KTLTGKTITLEVEPSDTIENVKAKIQDKEGIPPDQQRLIFA GKQLEDGRTLSDYNIQKESTLHLVLRLRGGC -> YADLRE DPDRQDHHPGSGAQ (in UBB(+1); loss of polyubiquitination; impairs the ubiquitin-proteasome pathway; refractory to disassembly by DUBs; slow degradation by UCHL3).		activation of MAPK activity (GO:0000187)|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|carbohydrate metabolic process (GO:0005975)|cellular response to hypoxia (GO:0071456)|cytokine-mediated signaling pathway (GO:0019221)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|endosomal transport (GO:0016197)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|intracellular transport of virus (GO:0075733)|ion transmembrane transport (GO:0034220)|JNK cascade (GO:0007254)|membrane organization (GO:0061024)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of type I interferon production (GO:0032480)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of apoptotic process (GO:0043065)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of type I interferon production (GO:0032479)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|stress-activated MAPK cascade (GO:0051403)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|transmembrane transport (GO:0055085)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral protein processing (GO:0019082)|virion assembly (GO:0019068)	cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16				UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)		AAGGCATCCCTCCCGACCAGC	0.557																																					Melanoma(163;1126 3406 34901)	ENST00000302182.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						c.(337-339)ccT>ccC		ubiquitin B							115	112	113					17																	16285560		2203	4300	6503	SO:0001819	synonymous_variant	7314				activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|viral reproduction	cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane	protein binding	g.chr17:16285560T>C		CCDS11177.1	17p12-p11.2	2010-11-25			ENSG00000170315	ENSG00000170315			12463	protein-coding gene	gene with protein product	"polyubiquitin B"	191339				2154095	Standard	NM_018955		Approved	MGC8385, FLJ25987	uc002gpx.3	P0CG47	OTTHUMG00000058987	ENST00000395837.1:c.339T>C	17.37:g.16285560T>C						UBB_ENST00000535788.1_Intron|UBB_ENST00000578649.1_Intron|UBB_ENST00000395837.1_Silent_p.P113P|UBB_ENST00000395839.1_Silent_p.P113P|RP11-138I1.4_ENST00000583934.1_RNA	p.P113P	NM_018955.2	NP_061828.1	P0CG47	UBB_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)	2	731	+			113			Ubiquitin-like 2.		P02248|P02249|P02250|P62988|Q29120|Q6LBL4|Q6LDU5|Q8WYN8|Q91887|Q91888|Q9BWD6|Q9BX98|Q9UEF2|Q9UEG1|Q9UEK8|Q9UPK7	Silent	SNP	ENST00000395837.1	37	c.339T>C	CCDS11177.1																																																																																				0.557	UBB-002	NOVEL	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000130459.1	NM_018955		5	108	0	0	0	1	0	5	108					C	16285560	T	C	16285560	2	2	121	1	0	0	0	0	0	0	0	1	16838	1538	54	4		4	UBB	17	16285560	Silent	SNP	T	TCGA-EJ-A65F-01A-21D-A30X-08	9125272	16285560	64909650	76	6413											
ZNF287	57336	broad.mit.edu	37	chr17	16455883	16455885	+	In_Frame_Del	DEL	GAA	GAA	-																															agtatgtattttttgatgctGaagaaggtgtgtactctgac																										TCGA-EJ-A65F-01A-21D-A30X-08	TCGA-EJ-A65F-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c17cad55-fb48-4813-8f26-083d3ece8ffa	17d98e3b-65f0-4395-8fdd-11ce4ccfc917	g.chr17:16455883_16455885delGAA	ENST00000395824.1	-	6	2188_2190	c.1571_1573delTTC	c.(1570-1575)cttcag>cag	p.L524del	ZNF287_ENST00000395825.3_In_Frame_Del_p.L524del			Q9HBT7	ZN287_HUMAN	zinc finger protein 287	517					positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cytokine biosynthetic process (GO:0042035)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(5)|prostate(1)|urinary_tract(1)	20				UCEC - Uterine corpus endometrioid carcinoma (92;0.083)		TTTTGATGCTGAAGAAGGTGTGT	0.35																																						ENST00000395824.1																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(5)|prostate(1)|urinary_tract(1)	20						c.(1570-1575)cag>c		zinc finger protein 287																																				SO:0001651	inframe_deletion	57336				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr17:16455883_16455885delGAA	AF217227	CCDS11179.2	17p11.2	2013-01-09			ENSG00000141040	ENSG00000141040		"Zinc fingers, C2H2-type", "-", "-", "-"	13502	protein-coding gene	gene with protein product							Standard	NM_020653		Approved	ZKSCAN13, ZSCAN45	uc002gqi.2	Q9HBT7	OTTHUMG00000058993	ENST00000395824.1:c.1571_1573delTTC	17.37:g.16455886_16455888delGAA	ENSP00000379168:p.Leu524del					ZNF287_ENST00000395825.3_In_Frame_Del_p.LQ524del	p.LQ524del			Q9HBT7	ZN287_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.083)	6	2188_2190	-			517					Q6IAG1	In_Frame_Del	DEL	ENST00000395824.1	37	c.1571_1573delTTC	CCDS11179.2																																																																																				0.35	ZNF287-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130504.1			23	74						23	74	---	---	---	---	-	16455885	GAA	-	16455883	7	5	121	1	0	1	0	1	0	0	0	0	17822	1299	45	0	716	0	ZNF287	17	16455883	In_Frame_Del	DEL	GAA	TCGA-EJ-A65F-01A-21D-A30X-08	170323	16455883	64739327	77	6414											
FBXW10	10517	broad.mit.edu	37	chr17	18651268	18651268	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttcagggctcaatcaagacAtcacagatgtgtgtttttcc	10	14	8	9	0	4	2	4	0	0	2	5	2	5	2	1	1	0	2	1	1	2	3			TCGA-EJ-A65F-01A-21D-A30X-08	TCGA-EJ-A65F-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c17cad55-fb48-4813-8f26-083d3ece8ffa	17d98e3b-65f0-4395-8fdd-11ce4ccfc917	g.chr17:18651268A>T	ENST00000395665.4	+	2	741	c.520A>T	c.(520-522)Atc>Ttc	p.I174F	FBXW10_ENST00000308799.4_Missense_Mutation_p.I174F|FBXW10_ENST00000395667.1_Missense_Mutation_p.I174F|FBXW10_ENST00000301938.4_Missense_Mutation_p.I174F			Q5XX13	FBW10_HUMAN	F-box and WD repeat domain containing 10	174										NS(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42						CAATCAAGACATCACAGATGT	0.453																																						ENST00000308799.4																			0				NS(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42						c.(520-522)Atc>Ttc		F-box and WD repeat domain containing 10							35	36	36					17																	18651268		2201	4295	6496	SO:0001583	missense	10517							g.chr17:18651268A>T	BC028364	CCDS11199.2, CCDS11199.3, CCDS58524.1	17p11	2013-01-09	2007-02-08	2004-07-21	ENSG00000171931	ENSG00000171931		"F-boxes / WD-40 domains", "WD repeat domain containing"	1211	protein-coding gene	gene with protein product		611679	"chromosome 17 open reading frame 1A", "F-box and WD-40 domain protein 10"	C17orf1, C17orf1A		9787083, 7586531	Standard	NM_001267585		Approved	SM2SH2, HREP, Fbw10	uc002guk.3	Q5XX13	OTTHUMG00000059048	ENST00000395665.4:c.520A>T	17.37:g.18651268A>T	ENSP00000379025:p.Ile174Phe					FBXW10_ENST00000301938.4_Missense_Mutation_p.I174F|FBXW10_ENST00000395667.1_Missense_Mutation_p.I174F|FBXW10_ENST00000395665.4_Missense_Mutation_p.I174F	p.I174F			Q5XX13	FBW10_HUMAN			2	739	+			174					C9JRY8|C9JZD7|Q8TC00|Q9H0F0	Missense_Mutation	SNP	ENST00000395665.4	37	c.520A>T	CCDS11199.3	.	.	.	.	.	.	.	.	.	.	A	0.007	-1.935354	0.00484	.	.	ENSG00000171931	ENST00000395667;ENST00000308799;ENST00000301938;ENST00000395665	T;T;T;T	0.23348	1.91;1.91;1.91;1.91	2.08	-4.17	0.03857	WD40/YVTN repeat-like-containing domain (1);	1.124920	0.06838	U	0.795179	T	0.12646	0.0307	N	0.22421	0.69	0.09310	N	1	B;B;B;B	0.06786	0.001;0.001;0.001;0.001	B;B;B;B	0.04013	0.001;0.001;0.0;0.001	T	0.29792	-1.0000	10	0.09590	T	0.72	.	4.8982	0.13760	0.6348:0.0:0.1547:0.2104	.	174;174;174;174	Q5XX13-3;Q5XX13-2;Q5XX13;Q5XX13-4	.;.;FBW10_HUMAN;.	F	174	ENSP00000379026:I174F;ENSP00000310382:I174F;ENSP00000306937:I174F;ENSP00000379025:I174F	ENSP00000306937:I174F	I	+	1	0	FBXW10	18591993	0.000000	0.05858	0.000000	0.03702	0.024000	0.10985	-1.698000	0.01908	-2.994000	0.00278	-0.540000	0.04249	ATC		0.453	FBXW10-003	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313531.2	NM_031456		10	22	0	0	0	1	0	10	22					T	18651268	A	T	18651268	3	4	121	1	0	0	0	0	1	0	0	0	5763	217	8	5	526	5	FBXW10	17	18651268	Missense_Mutation	SNP	A	TCGA-EJ-A65F-01A-21D-A30X-08	2195385	18651268	62543942	78	6415											
SC65	10609	broad.mit.edu	37	chr17	39967427	39967427	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgtgagggactcgtcggcgAcgtccagcatcccctgatag	7	7	13	14	5	0	2	0	2	0	0	4	4	2	3	4	2	1	1	4	2	1	1			TCGA-EJ-A65F-01A-21D-A30X-08	TCGA-EJ-A65F-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c17cad55-fb48-4813-8f26-083d3ece8ffa	17d98e3b-65f0-4395-8fdd-11ce4ccfc917	g.chr17:39967427A>C	ENST00000355468.3	-	3	1038	c.572T>G	c.(571-573)gTc>gGc	p.V191G	LEPREL4_ENST00000393928.1_Missense_Mutation_p.V191G|FKBP10_ENST00000321562.4_5'Flank			Q92791	SC65_HUMAN	leprecan-like 4	191					synaptonemal complex assembly (GO:0007130)	condensed nuclear chromosome (GO:0000794)|nucleolus (GO:0005730)|synaptonemal complex (GO:0000795)				endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|urinary_tract(1)	8						CTCGTCGGCGACGTCCAGCAT	0.627																																						ENST00000355468.3																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|urinary_tract(1)	8						c.(571-573)gTc>gGc		leprecan-like 4							167	172	170					17																	39967427		2203	4300	6503	SO:0001583	missense	10609				synaptonemal complex assembly	nucleolus|synaptonemal complex	binding	g.chr17:39967427A>C	BC001047	CCDS11408.1	17q12	2013-05-03	2002-08-29		ENSG00000141696	ENSG00000141696			16946	protein-coding gene	gene with protein product			"nucleolar autoantigen (55kD)", "rat synaptonemal complex protein"			8862517	Standard	NM_006455		Approved	SC65, NO55	uc002hxt.3	Q92791	OTTHUMG00000133501	ENST00000355468.3:c.572T>G	17.37:g.39967427A>C	ENSP00000347649:p.Val191Gly					LEPREL4_ENST00000393928.1_Missense_Mutation_p.V191G	p.V191G			Q92791	SC65_HUMAN			3	1038	-			191					Q53GI6|Q9H4F6	Missense_Mutation	SNP	ENST00000355468.3	37	c.572T>G	CCDS11408.1	.	.	.	.	.	.	.	.	.	.	A	8.537	0.872265	0.17322	.	.	ENSG00000141696	ENST00000355468;ENST00000393928;ENST00000545545	T;T	0.61859	0.07;0.07	4.91	-0.152	0.13407	Tetratricopeptide-like helical (1);	0.643004	0.15463	N	0.261047	T	0.48874	0.1524	M	0.72894	2.215	0.19300	N	0.999979	B;B	0.19200	0.034;0.004	B;B	0.22601	0.04;0.015	T	0.51204	-0.8735	10	0.87932	D	0	-3.3553	1.573	0.02618	0.5395:0.1712:0.1222:0.1671	.	180;191	B4DVZ5;Q92791	.;SC65_HUMAN	G	191;191;180	ENSP00000347649:V191G;ENSP00000377505:V191G	ENSP00000347649:V191G	V	-	2	0	LEPREL4	37220953	0.921000	0.31238	0.000000	0.03702	0.267000	0.26476	4.019000	0.57181	0.089000	0.17243	-0.313000	0.08912	GTC		0.627	LEPREL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257439.2			84	186	0	0	0	1	0	84	186					C	39967427	A	C	39967427	3	2	121	1	0	0	0	0	1	0	0	0	13867	275	10	5	769	5	SC65	17	39967427	Missense_Mutation	SNP	A	TCGA-EJ-A65F-01A-21D-A30X-08	21316159	39967427	41227783	79	6416											
ABCA5	23461	broad.mit.edu	37	chr17	67270183	67270183	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aatataagtctggaacaagtTtgatgggaaccacagcattt	15	11	9	6	0	1	1	0	1	1	0	1	3	1	3	1	2	3	2	1	2	6	4			TCGA-EJ-A65F-01A-21D-A30X-08	TCGA-EJ-A65F-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c17cad55-fb48-4813-8f26-083d3ece8ffa	17d98e3b-65f0-4395-8fdd-11ce4ccfc917	g.chr17:67270183T>A	ENST00000392676.3	-	20	2745	c.2681A>T	c.(2680-2682)aAa>aTa	p.K894I	ABCA5_ENST00000588877.1_Missense_Mutation_p.K894I|ABCA5_ENST00000392677.2_Missense_Mutation_p.K894I			Q8WWZ7	ABCA5_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 5	894					cholesterol efflux (GO:0033344)|high-density lipoprotein particle remodeling (GO:0034375)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|reverse cholesterol transport (GO:0043691)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|lysosome (GO:0005764)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(18)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	54	Breast(10;3.72e-11)				Tacrolimus(DB00864)	TGGAACAAGTTTGATGGGAAC	0.333																																						ENST00000392676.3																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(18)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	54						c.(2680-2682)aAa>aTa		ATP-binding cassette, sub-family A (ABC1), member 5							93	95	95					17																	67270183		2203	4300	6503	SO:0001583	missense	23461				cholesterol efflux|high-density lipoprotein particle remodeling|negative regulation of macrophage derived foam cell differentiation	Golgi membrane|integral to membrane|late endosome membrane|lysosomal membrane	ATP binding|ATPase activity	g.chr17:67270183T>A	U66672	CCDS11685.1	17q24.3	2012-03-14			ENSG00000154265	ENSG00000154265		"ATP binding cassette transporters / subfamily A"	35	protein-coding gene	gene with protein product		612503				8894702	Standard	NM_172232		Approved	EST90625	uc002jig.2	Q8WWZ7		ENST00000392676.3:c.2681A>T	17.37:g.67270183T>A	ENSP00000376443:p.Lys894Ile					ABCA5_ENST00000392677.2_Missense_Mutation_p.K894I|ABCA5_ENST00000588877.1_Missense_Mutation_p.K894I	p.K894I			Q8WWZ7	ABCA5_HUMAN			20	2745	-	Breast(10;3.72e-11)		894					Q8IVJ2|Q96LJ1|Q96MS4|Q96PZ9|Q9NY14	Missense_Mutation	SNP	ENST00000392676.3	37	c.2681A>T	CCDS11685.1	.	.	.	.	.	.	.	.	.	.	T	16.26	3.073455	0.55646	.	.	ENSG00000154265	ENST00000392677;ENST00000392676	D;D	0.86956	-2.19;-2.19	5.62	3.41	0.39046	.	0.400976	0.24499	N	0.037984	D	0.85635	0.5742	L	0.47716	1.5	0.31302	N	0.68824	P;P	0.47604	0.898;0.731	P;P	0.50791	0.65;0.462	D	0.83733	0.0199	9	.	.	.	.	8.9611	0.35847	0.0:0.2078:0.0:0.7922	.	894;894	Q8WWZ7-2;Q8WWZ7	.;ABCA5_HUMAN	I	894	ENSP00000376444:K894I;ENSP00000376443:K894I	.	K	-	2	0	ABCA5	64781778	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	1.094000	0.30951	1.072000	0.40860	0.477000	0.44152	AAA		0.333	ABCA5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000450654.1	NM_018672		19	62	0	0	0	1	0	19	62					A	67270183	T	A	67270183	3	1	121	1	0	0	0	0	1	0	0	0	35	1841	64	5	2327	5	ABCA5	17	67270183	Missense_Mutation	SNP	T	TCGA-EJ-A65F-01A-21D-A30X-08	27302756	67270183	13925027	80	6417											
CDH19	28513	broad.mit.edu	37	chr18	64235814	64235814	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctcttaagatgtagagggatCgctcctctctatcaagcttc	9	13	8	11	1	3	2	1	0	2	2	7	3	4	3	1	1	1	3	1	1	4	4			TCGA-EJ-A65F-01A-21D-A30X-08	TCGA-EJ-A65F-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c17cad55-fb48-4813-8f26-083d3ece8ffa	17d98e3b-65f0-4395-8fdd-11ce4ccfc917	g.chr18:64235814C>T	ENST00000540086.1	-	3	575	c.329G>A	c.(328-330)cGa>cAa	p.R110Q	CDH19_ENST00000262150.2_Missense_Mutation_p.R110Q	NM_001271028.1	NP_001257957.1	Q96JQ0	PCD16_HUMAN	cadherin 19, type 2	218	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|calcium-dependent cell-cell adhesion (GO:0016339)|cochlea development (GO:0090102)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|neural tube development (GO:0021915)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|post-anal tail morphogenesis (GO:0036342)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(22)|ovary(1)|prostate(3)|skin(7)	61		Esophageal squamous(42;0.0132)				GTAGAGGGATCGCTCCTCTCT	0.438																																						ENST00000262150.2																			0				NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(22)|ovary(1)|prostate(3)|skin(7)	61						c.(328-330)cGa>cAa		cadherin 19, type 2							145	139	141					18																	64235814		2203	4299	6502	SO:0001583	missense	28513				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr18:64235814C>T	AJ007607	CCDS11994.1, CCDS59325.1	18q22.1	2010-01-26			ENSG00000071991	ENSG00000071991		"Cadherins / Major cadherins"	1758	protein-coding gene	gene with protein product		603016				10995570	Standard	NM_021153		Approved	CDH7	uc002lkc.2	Q9H159	OTTHUMG00000132802	ENST00000540086.1:c.329G>A	18.37:g.64235814C>T	ENSP00000439593:p.Arg110Gln					CDH19_ENST00000540086.1_Missense_Mutation_p.R110Q	p.R110Q	NM_021153.2	NP_066976.1	Q9H159	CAD19_HUMAN			3	621	-		Esophageal squamous(42;0.0132)	110			Cadherin 1.		O15098	Missense_Mutation	SNP	ENST00000540086.1	37	c.329G>A	CCDS59325.1	.	.	.	.	.	.	.	.	.	.	C	12.95	2.090888	0.36855	.	.	ENSG00000071991	ENST00000262150;ENST00000540086;ENST00000454642	T;T	0.50813	0.73;0.73	5.87	-4.53	0.03462	Cadherin (4);Cadherin-like (1);	0.429674	0.22940	N	0.053795	T	0.24509	0.0594	N	0.10874	0.06	0.09310	N	0.999999	B;B	0.15719	0.014;0.01	B;B	0.04013	0.001;0.001	T	0.08391	-1.0724	10	0.37606	T	0.19	.	14.5678	0.68191	0.0:0.2404:0.0:0.7596	.	110;110	F5H1K0;Q9H159	.;CAD19_HUMAN	Q	110;110;55	ENSP00000262150:R110Q;ENSP00000439593:R110Q	ENSP00000262150:R110Q	R	-	2	0	CDH19	62386794	0.022000	0.18835	0.006000	0.13384	0.967000	0.64934	0.389000	0.20751	-0.741000	0.04797	-0.469000	0.05056	CGA		0.438	CDH19-005	PUTATIVE	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000442285.1	NM_021153		7	79	0	0	0	1	0	7	79					T	64235814	C	T	64235814	3	4	121	1	0	0	0	0	1	0	0	0	3104	884	31	2	2029	2	CDH19	18	64235814	Missense_Mutation	SNP	C	TCGA-EJ-A65F-01A-21D-A30X-08		64235814	13841434	81	6418											
ICAM4	3386	broad.mit.edu	37	chr19	10398291	10398291	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgctgccacgtgacgcaggtGttcccggtgggctacttggt	4	10	15	12	4	0	1	0	1	0	0	1	1	1	1	2	4	2	4	2	4	1	3			TCGA-EJ-A65F-01A-21D-A30X-08	TCGA-EJ-A65F-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c17cad55-fb48-4813-8f26-083d3ece8ffa	17d98e3b-65f0-4395-8fdd-11ce4ccfc917	g.chr19:10398291G>T	ENST00000380770.3	+	2	520	c.474G>T	c.(472-474)gtG>gtT	p.V158V	CTD-2369P2.5_ENST00000592893.1_RNA|ICAM4_ENST00000340992.4_Missense_Mutation_p.V133F|ICAM4_ENST00000393717.2_Silent_p.V158V|ICAM5_ENST00000221980.4_5'Flank|CTD-2369P2.8_ENST00000589379.1_RNA	NM_001544.4	NP_001535.1	Q14773	ICAM4_HUMAN	intercellular adhesion molecule 4 (Landsteiner-Wiener blood group)	158	Ig-like C2-type 2.				extracellular matrix organization (GO:0030198)|regulation of immune response (GO:0050776)|single organismal cell-cell adhesion (GO:0016337)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)			breast(1)|large_intestine(3)|lung(2)|pancreas(1)	7			OV - Ovarian serous cystadenocarcinoma(20;2.64e-09)|Epithelial(33;4.31e-06)|all cancers(31;9.75e-06)			TGACGCAGGTGTTCCCGGTGG	0.597																																						ENST00000340992.4																			0				breast(1)|large_intestine(3)|lung(2)|pancreas(1)	7						c.(397-399)Gtt>Ttt		intercellular adhesion molecule 4 (Landsteiner-Wiener blood group)							71	64	66					19																	10398291		2203	4300	6503	SO:0001819	synonymous_variant	3386				cell-cell adhesion|regulation of immune response	extracellular region|integral to membrane|plasma membrane	integrin binding	g.chr19:10398291G>T	X93093	CCDS12232.1, CCDS32904.1, CCDS42500.1	19p13.2	2014-07-19	2006-02-23		ENSG00000105371	ENSG00000105371		"CD molecules", "Blood group antigens", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5347	protein-coding gene	gene with protein product		614088	"intercellular adhesion molecule 4, Landsteiner-Wiener blood group", "Landsteiner-Wiener blood group", "intercellular adhesion molecule 4 (LW blood group)"	LW		8639917, 6431896	Standard	NM_001039132		Approved	CD242	uc002mnr.2	Q14773	OTTHUMG00000180405	ENST00000380770.3:c.474G>T	19.37:g.10398291G>T						ICAM4_ENST00000380770.3_Silent_p.V158V|CTD-2369P2.8_ENST00000589379.1_RNA|ICAM4_ENST00000393717.2_Silent_p.V158V	p.V133F	NM_001039132.2	NP_001034221.1	Q14773	ICAM4_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;2.64e-09)|Epithelial(33;4.31e-06)|all cancers(31;9.75e-06)		2	436	+			133					A0M8X2|Q14771|Q14772|Q16375|Q9BWR0	Missense_Mutation	SNP	ENST00000380770.3	37	c.397G>T	CCDS12232.1	.	.	.	.	.	.	.	.	.	.	G	18.45	3.626552	0.66901	.	.	ENSG00000105371	ENST00000340992	T	0.13657	2.57	4.29	-0.962	0.10333	.	8.943730	0.00357	N	0.000022	T	0.20901	0.0503	.	.	.	0.80722	D	1	D	0.61080	0.989	P	0.57846	0.828	T	0.53711	-0.8400	9	0.21014	T	0.42	.	4.2977	0.10910	0.233:0.3625:0.4045:0.0	.	133	Q9BWR0	.	F	133	ENSP00000342114:V133F	ENSP00000342114:V133F	V	+	1	0	ICAM4	10259291	0.993000	0.37304	0.992000	0.48379	0.809000	0.45718	-0.030000	0.12308	0.225000	0.20959	0.462000	0.41574	GTT		0.597	ICAM4-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000451214.1	NM_001544		16	33	1	0	0.00074312	1	0.000782648	16	33					T	10398291	G	T	10398291	2	4	121	1	0	0	0	0	0	0	0	1	7482	1377	48	5		5	ICAM4	19	10398291	Silent	SNP	G	TCGA-EJ-A65F-01A-21D-A30X-08		10398291	48730692	82	6419											
ZNF93	81931	broad.mit.edu	37	chr19	20044389	20044389	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttgtgaagaatgtggcaaaGcctttaagtactcctctgcc	10	13	9	9	0	1	2	0	1	1	1	2	2	2	2	3	1	3	2	3	1	5	4			TCGA-EJ-A65F-01A-21D-A30X-08	TCGA-EJ-A65F-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c17cad55-fb48-4813-8f26-083d3ece8ffa	17d98e3b-65f0-4395-8fdd-11ce4ccfc917	g.chr19:20044389G>A	ENST00000343769.5	+	4	653	c.625G>A	c.(625-627)Gcc>Acc	p.A209T	AC007204.2_ENST00000592245.1_lincRNA	NM_031218.3	NP_112495.2	P35789	ZNF93_HUMAN	zinc finger protein 93	209					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			endometrium(6)|kidney(2)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	24						ATGTGGCAAAGCCTTTAAGTA	0.373																																						ENST00000343769.5																			0				endometrium(6)|kidney(2)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	24						c.(625-627)Gcc>Acc		zinc finger protein 93							37	39	38					19																	20044389		2203	4298	6501	SO:0001583	missense	81931					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:20044389G>A	M61873	CCDS32973.1	19p12	2014-02-12	2006-05-12		ENSG00000184635	ENSG00000184635		"Zinc fingers, C2H2-type", "-"	13169	protein-coding gene	gene with protein product		603975	"zinc finger protein 505", "zinc finger protein 93 (HTF34)"	ZNF505		8467795, 2023909	Standard	NM_031218		Approved	HPF34, TF34, FLJ12488	uc002non.3	P35789	OTTHUMG00000182371	ENST00000343769.5:c.625G>A	19.37:g.20044389G>A	ENSP00000342002:p.Ala209Thr					AC007204.2_ENST00000592245.1_lincRNA	p.A209T	NM_031218.3	NP_112495.2	P35789	ZNF93_HUMAN			4	653	+			209					A6NMY2|B9EGT2|Q8N8Q4|Q9H9X5|Q9Y2N8	Missense_Mutation	SNP	ENST00000343769.5	37	c.625G>A	CCDS32973.1	.	.	.	.	.	.	.	.	.	.	g	15.64	2.893739	0.52121	.	.	ENSG00000184635	ENST00000343769;ENST00000427325	T	0.36157	1.27	0.832	0.832	0.18867	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.32734	0.0839	L	0.28776	0.89	0.20074	N	0.999937	P	0.45283	0.855	P	0.50617	0.646	T	0.15435	-1.0437	9	0.37606	T	0.19	.	6.9563	0.24574	0.0:0.0:1.0:0.0	.	209	P35789	ZNF93_HUMAN	T	209	ENSP00000342002:A209T	ENSP00000342002:A209T	A	+	1	0	ZNF93	19905389	0.000000	0.05858	0.613000	0.29037	0.613000	0.37349	-0.541000	0.06099	0.171000	0.19730	0.174000	0.16983	GCC		0.373	ZNF93-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460808.2	NM_031218		13	20	0	0	0	1	0	13	20					A	20044389	G	A	20044389	3	1	121	1	0	0	0	0	1	0	0	0	18199	971	34	3	639	3	ZNF93	19	20044389	Missense_Mutation	SNP	G	TCGA-EJ-A65F-01A-21D-A30X-08	9646098	20044389	39084594	83	6420											
NLRP8	126205	broad.mit.edu	37	chr19	56482027	56482027	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tccctggagaactgtggggcGtattacctgtctgtggccca	6	11	13	11	1	1	1	0	0	1	1	2	2	2	1	3	4	2	1	3	4	3	2	rs368088277		TCGA-EJ-A65F-01A-21D-A30X-08	TCGA-EJ-A65F-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c17cad55-fb48-4813-8f26-083d3ece8ffa	17d98e3b-65f0-4395-8fdd-11ce4ccfc917	g.chr19:56482027G>A	ENST00000291971.3	+	6	2570	c.2499G>A	c.(2497-2499)gcG>gcA	p.A833A	NLRP8_ENST00000590542.1_Silent_p.A833A	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	833					neuron death (GO:0070997)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)			breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		ACTGTGGGGCGTATTACCTGT	0.473													G|||	1	0.000199681	0	0	5008	,	,		18530	0		0	False		,,,				2504	0.001					ENST00000291971.3																			0				breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35						c.(2497-2499)gcG>gcA		NLR family, pyrin domain containing 8		G		0,4406		0,0,2203	131	138	136		2499	-3.9	0	19		136	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	NLRP8	NM_176811.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		833/1049	56482027	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	126205					cytoplasm	ATP binding	g.chr19:56482027G>A	AY154463	CCDS12937.1	19q13.43	2008-02-05	2006-12-08	2006-12-08		ENSG00000179709		"Nucleotide-binding domain and leucine rich repeat containing"	22940	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 8"	609659	"NACHT, leucine rich repeat and PYD containing 8"	NALP8		12563287	Standard	NM_176811		Approved	NOD16, PAN4, CLR19.2	uc002qmh.3	Q86W28		ENST00000291971.3:c.2499G>A	19.37:g.56482027G>A						NLRP8_ENST00000590542.1_Silent_p.A833A	p.A833A	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN		GBM - Glioblastoma multiforme(193;0.0695)	6	2570	+		Colorectal(82;0.000147)|Ovarian(87;0.17)	833					Q7RTR4	Silent	SNP	ENST00000291971.3	37	c.2499G>A	CCDS12937.1																																																																																				0.473	NLRP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457462.1	NM_176811		56	106	0	0	0	1	0	56	106					A	56482027	G	A	56482027	2	1	121	1	0	0	0	0	0	0	0	1	10483	1132	40	1		1	NLRP8	19	56482027	Silent	SNP	G	TCGA-EJ-A65F-01A-21D-A30X-08	36437638	56482027	2646956	84	6421											
ZNFX1	57169	broad.mit.edu	37	chr20	47866085	47866085	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	agaagagctgcccggtatagGtagtgaggatggtgatctgg	10	9	17	5	1	1	4	0	2	1	2	1	5	1	5	1	5	2	3	1	5	4	3			TCGA-EJ-A65F-01A-21D-A30X-08	TCGA-EJ-A65F-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c17cad55-fb48-4813-8f26-083d3ece8ffa	17d98e3b-65f0-4395-8fdd-11ce4ccfc917	g.chr20:47866085G>T	ENST00000396105.1	-	14	3722	c.3476C>A	c.(3475-3477)aCc>aAc	p.T1159N	ZNFX1_ENST00000371752.1_Missense_Mutation_p.T1159N|ZNFX1_ENST00000371754.4_Intron	NM_021035.2	NP_066363.1	Q9P2E3	ZNFX1_HUMAN	zinc finger, NFX1-type containing 1	1159							metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			cervix(2)|endometrium(8)|kidney(7)|large_intestine(15)|liver(1)|lung(17)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	60			BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			CCCGGTATAGGTAGTGAGGAT	0.517																																						ENST00000396105.1																			0				cervix(2)|endometrium(8)|kidney(7)|large_intestine(15)|liver(1)|lung(17)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	60						c.(3475-3477)aCc>aAc		zinc finger, NFX1-type containing 1							131	124	126					20																	47866085		2203	4300	6503	SO:0001583	missense	57169						metal ion binding	g.chr20:47866085G>T	AK022641	CCDS13417.1	20q13.13	2014-02-12			ENSG00000124201	ENSG00000124201			29271	protein-coding gene	gene with protein product						10718198	Standard	NM_021035		Approved	KIAA1404, FLJ11277	uc002xui.3	Q9P2E3	OTTHUMG00000032696	ENST00000396105.1:c.3476C>A	20.37:g.47866085G>T	ENSP00000379412:p.Thr1159Asn					ZNFX1_ENST00000371754.4_Intron|ZNFX1_ENST00000371752.1_Missense_Mutation_p.T1159N	p.T1159N	NM_021035.2	NP_066363.1	Q9P2E3	ZNFX1_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		14	3722	-			1159					Q9BQM7|Q9BQM8|Q9H8C1|Q9H9S2|Q9NUM1|Q9NWW1	Missense_Mutation	SNP	ENST00000396105.1	37	c.3476C>A	CCDS13417.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.978949	0.74360	.	.	ENSG00000124201	ENST00000371752;ENST00000396105	D;D	0.81996	-1.56;-1.56	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	D	0.93664	0.7976	H	0.94423	3.535	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.92813	0.6266	10	0.32370	T	0.25	-25.1689	18.9133	0.92494	0.0:0.0:1.0:0.0	.	1159	Q9P2E3	ZNFX1_HUMAN	N	1159	ENSP00000360817:T1159N;ENSP00000379412:T1159N	ENSP00000360817:T1159N	T	-	2	0	ZNFX1	47299492	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	8.005000	0.88553	2.814000	0.96858	0.591000	0.81541	ACC		0.517	ZNFX1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079647.2	NM_021035		7	80	1	0	5.18039e-06	1	5.63581e-06	7	80					T	47866085	G	T	47866085	3	4	121	1	0	0	0	0	1	0	0	0	18202	1261	44	5	2284	5	ZNFX1	20	47866085	Missense_Mutation	SNP	G	TCGA-EJ-A65F-01A-21D-A30X-08		47866085	15159435	85	6422											
SS18L1	26039	broad.mit.edu	37	chr20	60737905	60737905	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tacagccacgcgggacccgcCtcgcagggcgtccccatgca	7	4	12	18	5	0	0	0	0	0	0	2	1	1	1	5	2	3	2	5	2	1	1			TCGA-EJ-A65F-01A-21D-A30X-08	TCGA-EJ-A65F-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c17cad55-fb48-4813-8f26-083d3ece8ffa	17d98e3b-65f0-4395-8fdd-11ce4ccfc917	g.chr20:60737905C>A	ENST00000331758.3	+	5	500	c.474C>A	c.(472-474)gcC>gcA	p.A158A	SS18L1_ENST00000421564.1_Silent_p.A158A|SS18L1_ENST00000491916.1_3'UTR|SS18L1_ENST00000370848.4_Silent_p.A161A	NM_198935.1	NP_945173.1	O75177	CREST_HUMAN	synovial sarcoma translocation gene on chromosome 18-like 1	158	Methionine-rich intra-molecular domain. {ECO:0000250}.				chromatin modification (GO:0016568)|dendrite development (GO:0016358)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of dendrite development (GO:0050773)|transcription, DNA-templated (GO:0006351)	condensed nuclear chromosome, centromeric region (GO:0000780)|kinetochore (GO:0000776)|nuclear body (GO:0016604)|nucleus (GO:0005634)			SS18L1/SSX1(2)	ovary(2)|skin(1)	3	Breast(26;3.97e-09)		BRCA - Breast invasive adenocarcinoma(19;1.92e-08)			CGGGACCCGCCTCGCAGGGCG	0.652			T	SSX1	synovial sarcoma																																	ENST00000331758.3				Dom	yes		20	20q13.3	26039	T	synovial sarcoma translocation gene on chromosome 18-like 1			M	SSX1		synovial sarcoma	SS18L1/SSX1(2)	0				ovary(2)|skin(1)	3						c.(472-474)gcC>gcA		synovial sarcoma translocation gene on chromosome 18-like 1							44	37	39					20																	60737905		2203	4300	6503	SO:0001819	synonymous_variant	26039				chromatin modification|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	condensed chromosome kinetochore		g.chr20:60737905C>A	AB014593	CCDS13491.1	20q13.3	2008-07-28			ENSG00000184402	ENSG00000184402			15592	protein-coding gene	gene with protein product		606472					Standard	XM_005260389		Approved	KIAA0693	uc002ycb.3	O75177	OTTHUMG00000032902	ENST00000331758.3:c.474C>A	20.37:g.60737905C>A						SS18L1_ENST00000421564.1_Silent_p.A158A|SS18L1_ENST00000491916.1_3'UTR|SS18L1_ENST00000370848.4_Silent_p.A161A	p.A158A	NM_198935.1	NP_945173.1	O75177	CREST_HUMAN	BRCA - Breast invasive adenocarcinoma(19;1.92e-08)		5	500	+	Breast(26;3.97e-09)		158			Methionine-rich intra-molecular domain (By similarity).		A6NNE3|A8K620|B3KWR8|E1P5H7|Q5JXJ3|Q6MZV9|Q6NTH3|Q6XYD9|Q8NE69|Q9BR55|Q9H4K6	Silent	SNP	ENST00000331758.3	37	c.474C>A	CCDS13491.1																																																																																				0.652	SS18L1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080004.2			13	51	1	0	0.000219431	1	0.000236127	13	51					A	60737905	C	A	60737905	2	1	121	1	0	0	0	0	0	0	0	1	15175	668	24	5		5	SS18L1	20	60737905	Silent	SNP	C	TCGA-EJ-A65F-01A-21D-A30X-08	12871820	60737905	2287615	86	6423											
MYH9	4627	broad.mit.edu	37	chr22	36696287	36696287	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctgccgggcgctctcctcCtcctccagctgctcctcaag	3	11	8	19	2	3	0	1	0	2	0	8	0	7	0	6	1	3	3	6	1	1	1			TCGA-EJ-A65F-01A-21D-A30X-08	TCGA-EJ-A65F-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c17cad55-fb48-4813-8f26-083d3ece8ffa	17d98e3b-65f0-4395-8fdd-11ce4ccfc917	g.chr22:36696287C>T	ENST00000216181.5	-	23	3092	c.2862G>A	c.(2860-2862)gaG>gaA	p.E954E		NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle	954					actin cytoskeleton reorganization (GO:0031532)|actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|angiogenesis (GO:0001525)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood vessel endothelial cell migration (GO:0043534)|cytokinesis (GO:0000910)|establishment of meiotic spindle localization (GO:0051295)|establishment of T cell polarity (GO:0001768)|in utero embryonic development (GO:0001701)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|meiotic spindle organization (GO:0000212)|membrane protein ectodomain proteolysis (GO:0006509)|monocyte differentiation (GO:0030224)|myoblast fusion (GO:0007520)|platelet aggregation (GO:0070527)|platelet formation (GO:0030220)|protein transport (GO:0015031)|regulation of cell shape (GO:0008360)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|uropod organization (GO:0032796)	actin cytoskeleton (GO:0015629)|actomyosin (GO:0042641)|actomyosin contractile ring (GO:0005826)|cell leading edge (GO:0031252)|cell-cell adherens junction (GO:0005913)|cleavage furrow (GO:0032154)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|membrane (GO:0016020)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ruffle (GO:0001726)|spindle (GO:0005819)|stress fiber (GO:0001725)|uropod (GO:0001931)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|motor activity (GO:0003774)|poly(A) RNA binding (GO:0044822)|protein anchor (GO:0043495)|protein homodimerization activity (GO:0042803)			NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						CGCTCTCCTCCTCCTCCAGCT	0.627			T	ALK	ALCL		"Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"		Hereditary Macrothrombocytopenia, MYH9-associated																													ENST00000216181.5				Dom	yes		22	22q13.1	4627	T	"myosin, heavy polypeptide 9, non-muscle"	yes	"Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"	L	ALK		ALCL		0				NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						c.(2860-2862)gaG>gaA		myosin, heavy chain 9, non-muscle							58	57	57					22																	36696287		2203	4300	6503	SO:0001819	synonymous_variant	4627	Hereditary Macrothrombocytopenia, MYH9-associated	Familial Cancer Database	MYHIIA syndrome, incl. Fechtner Syndrome, FTNS, and May-Hegglin Anomaly, MHA	actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity	g.chr22:36696287C>T		CCDS13927.1	22q13.1	2014-09-17	2006-09-29		ENSG00000100345	ENSG00000100345		"Myosins / Myosin superfamily : Class II"	7579	protein-coding gene	gene with protein product	"nonmuscle myosin heavy chain II-A"	160775	"myosin, heavy polypeptide 9, non-muscle"	DFNA17		1860190, 11023810	Standard	NM_002473		Approved	NMMHCA, NMHC-II-A, MHA, FTNS, EPSTS	uc003apg.3	P35579	OTTHUMG00000030429	ENST00000216181.5:c.2862G>A	22.37:g.36696287C>T							p.E954E	NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN			23	3092	-			954					A8K6E4|O60805|Q60FE2|Q86T83	Silent	SNP	ENST00000216181.5	37	c.2862G>A	CCDS13927.1																																																																																				0.627	MYH9-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000259110.3	NM_002473		4	44	0	0	0	1	0	4	44					T	36696287	C	T	36696287	2	4	121	1	0	0	0	0	0	0	0	1	10042	680	24	3		3	MYH9	22	36696287	Silent	SNP	C	TCGA-EJ-A65F-01A-21D-A30X-08		36696287	14608279	87	6424											
SEPT3	55964	broad.mit.edu	37	chr22	42377716	42377716	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gagcccaggcctaagccagcGgtgcccatgaagcccatgag	10	4	13	14	1	0	2	0	2	0	0	0	3	0	2	5	2	5	0	5	2	2	1			TCGA-EJ-A65F-01A-21D-A30X-08	TCGA-EJ-A65F-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c17cad55-fb48-4813-8f26-083d3ece8ffa	17d98e3b-65f0-4395-8fdd-11ce4ccfc917	g.chr22:42377716G>A	ENST00000396426.3	+	2	333	c.78G>A	c.(76-78)gcG>gcA	p.A26A	SEPT3_ENST00000396425.3_Silent_p.A26A|CTA-250D10.19_ENST00000424613.1_RNA|SEPT3_ENST00000291236.11_Intron|SEPT3_ENST00000328414.8_Silent_p.A26A|SEPT3_ENST00000406029.1_Intron	NM_145733.2	NP_663786.2	Q9UH03	SEPT3_HUMAN	septin 3	26					cell cycle (GO:0007049)|cell division (GO:0051301)	cell junction (GO:0030054)|septin complex (GO:0031105)|synapse (GO:0045202)	GTP binding (GO:0005525)			breast(1)|kidney(3)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	17						CTAAGCCAGCGGTGCCCATGA	0.617																																						ENST00000396425.3																			0				breast(1)|kidney(3)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	17						c.(76-78)gcG>gcA		septin 3							87	66	73					22																	42377716		2203	4300	6503	SO:0001819	synonymous_variant	55964				cell cycle|cytokinesis	cell junction|septin complex	GTP binding	g.chr22:42377716G>A	AF285107	CCDS14026.2, CCDS14027.2	22q13.2	2013-01-21			ENSG00000100167	ENSG00000100167		"Septins"	10750	protein-coding gene	gene with protein product		608314		SEP3			Standard	NM_019106		Approved		uc003bbr.4	Q9UH03	OTTHUMG00000030494	ENST00000396426.3:c.78G>A	22.37:g.42377716G>A						SEPT3_ENST00000291236.11_Intron|SEPT3_ENST00000406029.1_Intron|SEPT3_ENST00000328414.8_Silent_p.A26A|CTA-250D10.19_ENST00000424613.1_RNA|SEPT3_ENST00000396426.3_Silent_p.A26A	p.A26A	NM_019106.5	NP_061979.3	Q9UH03	SEPT3_HUMAN			2	209	+			26					B1AHR0|Q2NKJ7|Q59GF7|Q6IBZ6|Q8N3P3|Q9HD35	Silent	SNP	ENST00000396426.3	37	c.78G>A	CCDS14026.2																																																																																				0.617	SEPT3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322051.1	NM_145734		10	18	0	0	0	1	0	10	18					A	42377716	G	A	42377716	2	1	121	1	0	0	0	0	0	0	0	1	14065	1103	39	2		2	SEPT3	22	42377716	Silent	SNP	G	TCGA-EJ-A65F-01A-21D-A30X-08	5681429	42377716	8926850	88	6425											
AWAT2	158835	broad.mit.edu	37	chrX	69261786	69261786	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcctggcttggattctcaaTcttgggcattggtagaggct	6	14	12	9	0	2	1	1	0	2	1	4	2	3	2	1	5	0	4	1	5	2	5			TCGA-EJ-A65F-01A-21D-A30X-08	TCGA-EJ-A65F-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c17cad55-fb48-4813-8f26-083d3ece8ffa	17d98e3b-65f0-4395-8fdd-11ce4ccfc917	g.chrX:69261786T>C	ENST00000276101.3	-	7	879	c.874A>G	c.(874-876)Att>Gtt	p.I292V		NM_001002254.1	NP_001002254.1	Q6E213	AWAT2_HUMAN	acyl-CoA wax alcohol acyltransferase 2	292					wax biosynthetic process (GO:0010025)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	long-chain-alcohol O-fatty-acyltransferase activity (GO:0047196)|retinol O-fatty-acyltransferase activity (GO:0050252)			endometrium(3)|large_intestine(3)|lung(2)|ovary(1)	9						GGATTCTCAATCTTGGGCATT	0.483																																					NSCLC(80;1334 1436 9350 24214 26427)	ENST00000276101.3																			0				endometrium(3)|large_intestine(3)|lung(2)|ovary(1)	9						c.(874-876)Att>Gtt		acyl-CoA wax alcohol acyltransferase 2							131	100	111					X																	69261786		2203	4300	6503	SO:0001583	missense	158835					endoplasmic reticulum membrane|integral to membrane	long-chain-alcohol O-fatty-acyltransferase activity	g.chrX:69261786T>C	BC063698	CCDS35320.1	Xq13.1	2009-02-23	2009-02-23	2009-02-23	ENSG00000147160	ENSG00000147160			23251	protein-coding gene	gene with protein product	"multifunctional O-acyltransferase"	300925	"diacylglycerol O-acyltransferase 2-like 4"	DGAT2L4		14970677, 16106050, 15671038	Standard	NM_001002254		Approved	MFAT	uc004dxt.1	Q6E213	OTTHUMG00000021763	ENST00000276101.3:c.874A>G	X.37:g.69261786T>C	ENSP00000421172:p.Ile292Val						p.I292V	NM_001002254.1	NP_001002254.1	Q6E213	AWAT2_HUMAN			7	879	-			292					Q6IEE3|Q6P437	Missense_Mutation	SNP	ENST00000276101.3	37	c.874A>G	CCDS35320.1	.	.	.	.	.	.	.	.	.	.	T	11.64	1.698937	0.30142	.	.	ENSG00000147160	ENST00000276101	D	0.93426	-3.22	4.83	3.67	0.42095	.	0.082300	0.51477	D	0.000094	D	0.86100	0.5852	L	0.28115	0.83	0.39216	D	0.963402	B	0.25169	0.119	B	0.28849	0.095	T	0.77233	-0.2663	10	0.13470	T	0.59	.	7.6953	0.28592	0.0:0.1016:0.0:0.8984	.	292	Q6E213	AWAT2_HUMAN	V	292	ENSP00000421172:I292V	ENSP00000421172:I292V	I	-	1	0	AWAT2	69178511	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.460000	0.53028	0.792000	0.33850	0.486000	0.48141	ATT		0.483	AWAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358738.1	NM_001002254		18	23	0	0	0	1	0	18	23					C	69261786	T	C	69261786	3	2	121	1	0	0	0	0	1	0	0	0	1235	1435	50	4	131	4	AWAT2	23	69261786	Missense_Mutation	SNP	T	TCGA-EJ-A65F-01A-21D-A30X-08		69261786	86008774	89	6426											
IL13RA1	3597	broad.mit.edu	37	chrX	117895121	117895121	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgaaacctgatcctccacatAttaaaaacctctccttccac	13	11	2	15	0	1	2	0	2	1	0	5	2	4	2	6	0	2	0	6	0	5	3			TCGA-EJ-A65F-01A-21D-A30X-08	TCGA-EJ-A65F-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c17cad55-fb48-4813-8f26-083d3ece8ffa	17d98e3b-65f0-4395-8fdd-11ce4ccfc917	g.chrX:117895121A>G	ENST00000371666.3	+	6	764	c.697A>G	c.(697-699)Att>Gtt	p.I233V	IL13RA1_ENST00000371642.1_Missense_Mutation_p.I233V|IL13RA1_ENST00000481868.1_3'UTR	NM_001560.2	NP_001551.1	P78552	I13R1_HUMAN	interleukin 13 receptor, alpha 1	233	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell surface receptor signaling pathway (GO:0007166)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of immunoglobulin production (GO:0002639)	interleukin-13 receptor complex (GO:0005898)|plasma membrane (GO:0005886)	interleukin-13 receptor activity (GO:0016515)			endometrium(2)|kidney(1)|large_intestine(2)|lung(7)	12						TCCTCCACATATTAAAAACCT	0.368																																						ENST00000371666.3																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(7)	12						c.(697-699)Att>Gtt		interleukin 13 receptor, alpha 1							131	132	132					X																	117895121		2203	4300	6503	SO:0001583	missense	3597					interleukin-13 receptor complex	cytokine receptor activity	g.chrX:117895121A>G	U62858	CCDS14573.1	Xq24	2008-02-05			ENSG00000131724	ENSG00000131724		"Interleukins and interleukin receptors", "CD molecules"	5974	protein-coding gene	gene with protein product	"IL13 receptor alpha-1 chain", "CD213a1 antigen"	300119				8910586, 9013879	Standard	NM_001560		Approved	IL-13Ra, NR4, CD213a1	uc004eqs.3	P78552	OTTHUMG00000022258	ENST00000371666.3:c.697A>G	X.37:g.117895121A>G	ENSP00000360730:p.Ile233Val					IL13RA1_ENST00000481868.1_3'UTR|IL13RA1_ENST00000371642.1_Missense_Mutation_p.I233V	p.I233V	NM_001560.2	NP_001551.1	P78552	I13R1_HUMAN			6	764	+			233					O95646|Q5JSL4|Q99656|Q9UDY5	Missense_Mutation	SNP	ENST00000371666.3	37	c.697A>G	CCDS14573.1	.	.	.	.	.	.	.	.	.	.	A	13.67	2.305926	0.40795	.	.	ENSG00000131724	ENST00000371666;ENST00000371642	D;D	0.85773	-2.03;-2.03	5.94	3.42	0.39159	Fibronectin, type III (2);Immunoglobulin-like fold (1);	0.146541	0.46442	N	0.000297	T	0.79221	0.4409	M	0.62723	1.935	0.80722	D	1	P;P;P	0.41475	0.461;0.461;0.751	B;B;B	0.40982	0.123;0.123;0.345	T	0.71649	-0.4529	10	0.15952	T	0.53	-18.6493	5.0552	0.14529	0.722:0.1766:0.1014:0.0	.	233;233;233	Q5JSL4;P78552;Q9UDY5	.;I13R1_HUMAN;.	V	233	ENSP00000360730:I233V;ENSP00000360705:I233V	ENSP00000360705:I233V	I	+	1	0	IL13RA1	117779149	1.000000	0.71417	1.000000	0.80357	0.908000	0.53690	1.916000	0.39986	0.840000	0.34995	0.483000	0.47432	ATT		0.368	IL13RA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058009.1	NM_001560		57	14	0	0	0	1	0	57	14					G	117895121	A	G	117895121	3	3	121	1	0	0	0	0	1	0	0	0	7629	449	16	4	719	4	IL13RA1	23	117895121	Missense_Mutation	SNP	A	TCGA-EJ-A65F-01A-21D-A30X-08	48633335	117895121	37375439	90	6427											
MTF1	4520	broad.mit.edu	37	chr1	38300817	38300817	+	Missense_Mutation	SNP	A	A	T																															ttatcatgacctttcatgtgActtttgagactgtattgagt																										TCGA-EJ-A65G-01A-21D-A29Q-08	TCGA-EJ-A65G-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bdb0244b-1099-46e0-857e-35d6ae983c53	23c04493-58ff-4af4-a2df-9dbdd52d4e48	g.chr1:38300817A>T	ENST00000373036.4	-	6	1064	c.924T>A	c.(922-924)agT>agA	p.S308R		NM_005955.2	NP_005946.2	Q14872	MTF1_HUMAN	metal-regulatory transcription factor 1	308					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to cadmium ion (GO:0046686)|response to metal ion (GO:0010038)|response to oxidative stress (GO:0006979)	nucleus (GO:0005634)	core promoter binding (GO:0001047)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			endometrium(3)|kidney(5)|large_intestine(6)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(1)	31	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				CTTTCATGTGACTTTTGAGAC	0.403																																						ENST00000373036.4																			0				endometrium(3)|kidney(5)|large_intestine(6)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(1)	31						c.(922-924)agT>agA		metal-regulatory transcription factor 1							344	292	310					1																	38300817		2203	4300	6503	SO:0001583	missense	4520					nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|zinc ion binding	g.chr1:38300817A>T	BC014454	CCDS30676.1	1p33	2008-02-05			ENSG00000188786	ENSG00000188786			7428	protein-coding gene	gene with protein product		600172				8065932	Standard	NM_005955		Approved		uc001cce.1	Q14872	OTTHUMG00000004439	ENST00000373036.4:c.924T>A	1.37:g.38300817A>T	ENSP00000362127:p.Ser308Arg						p.S308R	NM_005955.2	NP_005946.2	Q14872	MTF1_HUMAN			6	1064	-	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)	308					B2RAK6|Q96CB1	Missense_Mutation	SNP	ENST00000373036.4	37	c.924T>A	CCDS30676.1	.	.	.	.	.	.	.	.	.	.	A	15.10	2.733119	0.48939	.	.	ENSG00000188786	ENST00000373036;ENST00000543396	T	0.35789	1.29	5.18	1.66	0.24008	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.31949	0.0813	M	0.68952	2.095	0.43211	D	0.995079	B	0.29805	0.257	B	0.27500	0.08	T	0.07252	-1.0782	10	0.36615	T	0.2	.	8.4384	0.32801	0.6968:0.0:0.3032:0.0	.	308	Q14872	MTF1_HUMAN	R	308;176	ENSP00000362127:S308R	ENSP00000362127:S308R	S	-	3	2	MTF1	38073404	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.100000	0.31025	0.316000	0.23135	0.528000	0.53228	AGT		0.403	MTF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012984.2	NM_005955		36	73	0	0	0	1	0	36	73					T	38300817	A	T	38300817	3	4	122	1	0	0	0	0	1	0	0	0	9922	272	10	5	1361	5	MTF1	1	38300817	Missense_Mutation	SNP	A	TCGA-EJ-A65G-01A-21D-A29Q-08		38300817	210949804	1	6428	37	2									
MTF1	4520	broad.mit.edu	37	chr1	38300818	38300818	+	Missense_Mutation	SNP	C	C	T																															tatcatgacctttcatgtgaCttttgagactgtattgagtg																										TCGA-EJ-A65G-01A-21D-A29Q-08	TCGA-EJ-A65G-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bdb0244b-1099-46e0-857e-35d6ae983c53	23c04493-58ff-4af4-a2df-9dbdd52d4e48	g.chr1:38300818C>T	ENST00000373036.4	-	6	1063	c.923G>A	c.(922-924)aGt>aAt	p.S308N		NM_005955.2	NP_005946.2	Q14872	MTF1_HUMAN	metal-regulatory transcription factor 1	308					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to cadmium ion (GO:0046686)|response to metal ion (GO:0010038)|response to oxidative stress (GO:0006979)	nucleus (GO:0005634)	core promoter binding (GO:0001047)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			endometrium(3)|kidney(5)|large_intestine(6)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(1)	31	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				TTTCATGTGACTTTTGAGACT	0.403																																						ENST00000373036.4																			0				endometrium(3)|kidney(5)|large_intestine(6)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(1)	31						c.(922-924)aGt>aAt		metal-regulatory transcription factor 1							341	289	307					1																	38300818		2203	4300	6503	SO:0001583	missense	4520					nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|zinc ion binding	g.chr1:38300818C>T	BC014454	CCDS30676.1	1p33	2008-02-05			ENSG00000188786	ENSG00000188786			7428	protein-coding gene	gene with protein product		600172				8065932	Standard	NM_005955		Approved		uc001cce.1	Q14872	OTTHUMG00000004439	ENST00000373036.4:c.923G>A	1.37:g.38300818C>T	ENSP00000362127:p.Ser308Asn						p.S308N	NM_005955.2	NP_005946.2	Q14872	MTF1_HUMAN			6	1063	-	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)	308					B2RAK6|Q96CB1	Missense_Mutation	SNP	ENST00000373036.4	37	c.923G>A	CCDS30676.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.016813	0.75161	.	.	ENSG00000188786	ENST00000373036;ENST00000543396	T	0.35973	1.28	5.18	5.18	0.71444	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.41465	0.1160	M	0.68952	2.095	0.58432	D	0.999992	B	0.23735	0.09	B	0.21708	0.036	T	0.29458	-1.0011	10	0.41790	T	0.15	.	18.7043	0.91631	0.0:1.0:0.0:0.0	.	308	Q14872	MTF1_HUMAN	N	308;176	ENSP00000362127:S308N	ENSP00000362127:S308N	S	-	2	0	MTF1	38073405	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.665000	0.83852	2.408000	0.81797	0.650000	0.86243	AGT		0.403	MTF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012984.2	NM_005955		37	74	0	0	0	1	0	37	74					T	38300818	C	T	38300818	3	4	122	1	0	0	0	0	1	0	0	0	9922	565	20	3	1362	3	MTF1	1	38300818	Missense_Mutation	SNP	C	TCGA-EJ-A65G-01A-21D-A29Q-08	1	38300818	210949803	2	6429	37	2									
LRRIQ3	127255	broad.mit.edu	37	chr1	74649343	74649343	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attcttcatgactggttagcTcttctgtgactgttccatga	7	17	8	9	0	4	3	1	3	3	0	5	3	5	3	1	1	1	3	1	1	1	5			TCGA-EJ-A65G-01A-21D-A29Q-08	TCGA-EJ-A65G-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bdb0244b-1099-46e0-857e-35d6ae983c53	23c04493-58ff-4af4-a2df-9dbdd52d4e48	g.chr1:74649343T>C	ENST00000395089.1	-	1	25	c.26A>G	c.(25-27)gAg>gGg	p.E9G	LRRIQ3_ENST00000354431.4_Missense_Mutation_p.E9G|LRRIQ3_ENST00000370911.3_Missense_Mutation_p.E9G|LRRIQ3_ENST00000370909.2_Missense_Mutation_p.E9G			A6PVS8	LRIQ3_HUMAN	leucine-rich repeats and IQ motif containing 3	9										NS(2)|breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(13)|liver(1)|lung(27)|ovary(3)|prostate(1)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(5)	73						ACTGGTTAGCTCTTCTGTGAC	0.313																																						ENST00000354431.4																			0				NS(2)|breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(13)|liver(1)|lung(27)|ovary(3)|prostate(1)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(5)	73						c.(25-27)gAg>gGg		leucine-rich repeats and IQ motif containing 3							54	57	56					1																	74649343		2200	4295	6495	SO:0001583	missense	127255							g.chr1:74649343T>C	BX647210	CCDS41350.1	1p31.1	2008-06-12	2008-06-12	2008-06-12	ENSG00000162620	ENSG00000162620			28318	protein-coding gene	gene with protein product			"leucine rich repeat containing 44"	LRRC44		12477932	Standard	NM_001105659		Approved	MGC22773	uc001dfy.4	A6PVS8	OTTHUMG00000009508	ENST00000395089.1:c.26A>G	1.37:g.74649343T>C	ENSP00000378524:p.Glu9Gly					LRRIQ3_ENST00000395089.1_Missense_Mutation_p.E9G|LRRIQ3_ENST00000370911.3_Missense_Mutation_p.E9G|LRRIQ3_ENST00000370909.2_Missense_Mutation_p.E9G	p.E9G	NM_001105659.1	NP_001099129.1	A6PVS8	LRIQ3_HUMAN			2	217	-			9					A6PVS9|Q6P5P7|Q6ZMV4|Q8WUE0	Missense_Mutation	SNP	ENST00000395089.1	37	c.26A>G	CCDS41350.1	.	.	.	.	.	.	.	.	.	.	T	16.85	3.236251	0.58886	.	.	ENSG00000162620	ENST00000395089;ENST00000354431;ENST00000370909;ENST00000388972;ENST00000370911	T;T;T;T	0.35973	2.76;2.76;1.28;2.31	5.36	2.94	0.34122	.	0.000000	0.44902	D	0.000403	T	0.09730	0.0239	N	0.24115	0.695	0.09310	N	0.999993	P	0.37015	0.578	B	0.36845	0.234	T	0.08806	-1.0704	10	0.87932	D	0	.	3.8212	0.08836	0.1878:0.0979:0.0:0.7143	.	9	A6PVS8	LRIQ3_HUMAN	G	9	ENSP00000378524:E9G;ENSP00000346414:E9G;ENSP00000359946:E9G;ENSP00000359948:E9G	ENSP00000346414:E9G	E	-	2	0	LRRIQ3	74421931	0.950000	0.32346	0.946000	0.38457	0.873000	0.50193	4.529000	0.60588	2.147000	0.66899	0.533000	0.62120	GAG		0.313	LRRIQ3-008	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316539.1	NM_145258		8	20	0	0	0	1	0	8	20					C	74649343	T	C	74649343	3	2	122	1	0	0	0	0	1	0	0	0	9030	1551	54	4	1876	4	LRRIQ3	1	74649343	Missense_Mutation	SNP	T	TCGA-EJ-A65G-01A-21D-A29Q-08	36348525	74649343	174601278	3	6430											
BARHL2	343472	broad.mit.edu	37	chr1	91182528	91182528	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtcgcgtctgctaccagatgCggctccgggggctccatggt	4	9	15	13	4	1	1	0	0	1	1	4	1	3	1	3	4	3	3	3	4	1	1	rs141603891	byFrequency	TCGA-EJ-A65G-01A-21D-A29Q-08	TCGA-EJ-A65G-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bdb0244b-1099-46e0-857e-35d6ae983c53	23c04493-58ff-4af4-a2df-9dbdd52d4e48	g.chr1:91182528C>A	ENST00000370445.4	-	1	266	c.225G>T	c.(223-225)ccG>ccT	p.P75P		NM_020063.1	NP_064447.1	Q9NY43	BARH2_HUMAN	BarH-like homeobox 2	75					cell fate determination (GO:0001709)|neuron differentiation (GO:0030182)|neuron migration (GO:0001764)|positive regulation of translation (GO:0045727)|regulation of axon extension (GO:0030516)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)			cervix(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24		all_lung(203;0.0263)|Lung SC(238;0.128)		all cancers(265;0.000897)|Epithelial(280;0.00516)|OV - Ovarian serous cystadenocarcinoma(397;0.211)		CTACCAGATGCGGCTCCGGGG	0.632													C|||	2	0.000399361	0	0	5008	,	,		10893	0.001		0	False		,,,				2504	0.001				GBM(199;3561 4100 22440)	ENST00000370445.4																			0				cervix(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24						c.(223-225)ccG>ccT		BarH-like homeobox 2		C		1,4405	2.1+/-5.4	0,1,2202	33	39	37		225	3.9	1	1	dbSNP_134	37	0,8600		0,0,4300	no	coding-synonymous	BARHL2	NM_020063.1		0,1,6502	AA,AC,CC		0.0,0.0227,0.0077		75/388	91182528	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	343472					nucleus	sequence-specific DNA binding	g.chr1:91182528C>A	AJ251753	CCDS730.1	1p22.2	2011-07-08	2007-07-09		ENSG00000143032	ENSG00000143032		"Homeoboxes / ANTP class : NKL subclass"	954	protein-coding gene	gene with protein product		605212	"BarH (Drosophila)-like 2"				Standard	NM_020063		Approved		uc001dns.3	Q9NY43	OTTHUMG00000010020	ENST00000370445.4:c.225G>T	1.37:g.91182528C>A							p.P75P	NM_020063.1	NP_064447.1	Q9NY43	BARH2_HUMAN		all cancers(265;0.000897)|Epithelial(280;0.00516)|OV - Ovarian serous cystadenocarcinoma(397;0.211)	1	266	-		all_lung(203;0.0263)|Lung SC(238;0.128)	75					A0AVP2|Q7Z4N7	Silent	SNP	ENST00000370445.4	37	c.225G>T	CCDS730.1																																																																																				0.632	BARHL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027728.2			27	77	1	0	1.66031e-10	1	1.69892e-10	27	77					A	91182528	C	A	91182528	2	1	122	1	0	0	0	0	0	0	0	1	1314	755	27	5		5	BARHL2	1	91182528	Silent	SNP	C	TCGA-EJ-A65G-01A-21D-A29Q-08	16533185	91182528	158068093	4	6431											
LCE1F	353137	broad.mit.edu	37	chr1	152748983	152748983	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtctcttcctgctgcagcGtcagctccggaggctgctgt	3	12	12	14	2	2	0	1	0	1	0	5	1	4	1	2	2	5	5	2	2	0	1	rs553837591		TCGA-EJ-A65G-01A-21D-A29Q-08	TCGA-EJ-A65G-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bdb0244b-1099-46e0-857e-35d6ae983c53	23c04493-58ff-4af4-a2df-9dbdd52d4e48	g.chr1:152748983G>A	ENST00000334371.2	+	1	136	c.136G>A	c.(136-138)Gtc>Atc	p.V46I		NM_178354.2	NP_848131.1	Q5T754	LCE1F_HUMAN	late cornified envelope 1F	46					keratinization (GO:0031424)					kidney(1)|large_intestine(2)|lung(7)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTGCTGCAGCGTCAGCTCCGG	0.672													.|||	1	0.000199681	0	0	5008	,	,		14707	0		0	False		,,,				2504	0.001					ENST00000334371.2																			0				kidney(1)|large_intestine(2)|lung(7)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						c.(136-138)Gtc>Atc		late cornified envelope 1F							49	51	50					1																	152748983		2203	4300	6503	SO:0001583	missense	353137				keratinization			g.chr1:152748983G>A		CCDS1023.1	1q21.3	2008-02-05			ENSG00000240386	ENSG00000240386		"Late cornified envelopes"	29467	protein-coding gene	gene with protein product		612608				11698679	Standard	NM_178354		Approved	LEP6	uc010pdv.2	Q5T754	OTTHUMG00000012403	ENST00000334371.2:c.136G>A	1.37:g.152748983G>A	ENSP00000334187:p.Val46Ile						p.V46I	NM_178354.2	NP_848131.1	Q5T754	LCE1F_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		1	136	+	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		46						Missense_Mutation	SNP	ENST00000334371.2	37	c.136G>A	CCDS1023.1	.	.	.	.	.	.	.	.	.	.	G	8.718	0.913642	0.17907	.	.	ENSG00000240386	ENST00000334371	T	0.03635	3.86	3.53	-0.519	0.11939	.	0.270105	0.19747	N	0.106982	T	0.00580	0.0019	N	0.08118	0	0.09310	N	1	B	0.31054	0.306	B	0.19666	0.026	T	0.48281	-0.9049	10	0.87932	D	0	.	5.5437	0.17051	0.0:0.2858:0.3433:0.3709	.	46	Q5T754	LCE1F_HUMAN	I	46	ENSP00000334187:V46I	ENSP00000334187:V46I	V	+	1	0	LCE1F	151015607	0.000000	0.05858	0.045000	0.18777	0.973000	0.67179	-1.297000	0.02759	-0.067000	0.12976	0.557000	0.71058	GTC		0.672	LCE1F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034523.2	NM_178354		6	123	0	0	0	1	0	6	123					A	152748983	G	A	152748983	3	1	122	1	0	0	0	0	1	0	0	0	8664	1145	40	1	138	1	LCE1F	1	152748983	Missense_Mutation	SNP	G	TCGA-EJ-A65G-01A-21D-A29Q-08	61566455	152748983	96501638	5	6432											
ITPKB	3707	broad.mit.edu	37	chr1	226924202	226924202	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cggctcagtgagggcaagatCctgtggacggtgtggcccag	7	7	17	10	2	1	2	1	1	0	1	2	3	2	3	2	5	0	2	2	5	1	0			TCGA-EJ-A65G-01A-21D-A29Q-08	TCGA-EJ-A65G-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bdb0244b-1099-46e0-857e-35d6ae983c53	23c04493-58ff-4af4-a2df-9dbdd52d4e48	g.chr1:226924202C>T	ENST00000272117.3	-	1	957	c.958G>A	c.(958-960)Gat>Aat	p.D320N	ITPKB_ENST00000366784.1_Missense_Mutation_p.D320N|ITPKB_ENST00000429204.1_Missense_Mutation_p.D320N			P27987	IP3KB_HUMAN	inositol-trisphosphate 3-kinase B	320					cell surface receptor signaling pathway (GO:0007166)|inositol phosphate metabolic process (GO:0043647)|MAPK cascade (GO:0000165)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of Ras protein signal transduction (GO:0046579)|positive thymic T cell selection (GO:0045059)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	ATP binding (GO:0005524)|inositol-1,4,5-trisphosphate 3-kinase activity (GO:0008440)			central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(4)|prostate(1)|skin(1)	30		Prostate(94;0.0773)				AGGGCAAGATCCTGTGGACGG	0.627																																					Colon(84;110 1851 5306 33547)	ENST00000429204.1																			0				central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(4)|prostate(1)|skin(1)	30						c.(958-960)Gat>Aat		inositol-trisphosphate 3-kinase B							50	59	56					1																	226924202		2203	4300	6503	SO:0001583	missense	3707						ATP binding|calmodulin binding|inositol trisphosphate 3-kinase activity	g.chr1:226924202C>T	AJ242780	CCDS1555.1	1q42.12	2011-04-28	2011-04-28		ENSG00000143772	ENSG00000143772	2.7.1.127		6179	protein-coding gene	gene with protein product		147522	"inositol 1,4,5-trisphosphate 3-kinase B"			1654894, 1330886	Standard	NM_002221		Approved	IP3KB, IP3-3KB	uc010pvo.2	P27987	OTTHUMG00000037582	ENST00000272117.3:c.958G>A	1.37:g.226924202C>T	ENSP00000272117:p.Asp320Asn					ITPKB_ENST00000366784.1_Missense_Mutation_p.D320N|ITPKB_ENST00000272117.3_Missense_Mutation_p.D320N	p.D320N	NM_002221.3	NP_002212.3	P27987	IP3KB_HUMAN			2	1285	-		Prostate(94;0.0773)	320					Q5VWL9|Q5VWM0|Q96BZ2|Q96JS1|Q9UH47	Missense_Mutation	SNP	ENST00000272117.3	37	c.958G>A	CCDS1555.1	.	.	.	.	.	.	.	.	.	.	C	16.47	3.133056	0.56828	.	.	ENSG00000143772	ENST00000272117;ENST00000429204;ENST00000366784	T;T;T	0.27256	1.72;1.72;1.68	4.3	2.33	0.28932	.	1.009740	0.07952	N	0.981118	T	0.16685	0.0401	N	0.24115	0.695	0.09310	N	1	P	0.48911	0.917	B	0.41135	0.348	T	0.14117	-1.0484	10	0.25751	T	0.34	-4.3258	6.9337	0.24455	0.0:0.7248:0.1767:0.0985	.	320	P27987	IP3KB_HUMAN	N	320	ENSP00000272117:D320N;ENSP00000411152:D320N;ENSP00000355748:D320N	ENSP00000272117:D320N	D	-	1	0	ITPKB	224990825	0.001000	0.12720	0.001000	0.08648	0.607000	0.37147	1.084000	0.30828	0.513000	0.28278	0.561000	0.74099	GAT		0.627	ITPKB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091632.1	NM_002221		5	89	0	0	0	1	0	5	89					T	226924202	C	T	226924202	3	4	122	1	0	0	0	0	1	0	0	0	7918	855	30	3	1910	3	ITPKB	1	226924202	Missense_Mutation	SNP	C	TCGA-EJ-A65G-01A-21D-A29Q-08	74175219	226924202	22326419	6	6433											
PRRT3	285368	broad.mit.edu	37	chr3	9989295	9989295	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agccgtaagggtcggtaagcAtgtaggcggatcgcagcgcc	9	6	16	10	5	0	0	0	0	0	0	2	1	0	1	2	4	3	5	2	4	3	3			TCGA-EJ-A65G-01A-21D-A29Q-08	TCGA-EJ-A65G-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bdb0244b-1099-46e0-857e-35d6ae983c53	23c04493-58ff-4af4-a2df-9dbdd52d4e48	g.chr3:9989295A>G	ENST00000412055.1	-	4	1691	c.1562T>C	c.(1561-1563)aTg>aCg	p.M521T	PRRT3-AS1_ENST00000431558.1_RNA	NM_207351.3	NP_997234.3	Q5FWE3	PRRT3_HUMAN	proline-rich transmembrane protein 3	521						integral component of membrane (GO:0016021)				NS(2)|breast(1)|endometrium(3)|large_intestine(3)|lung(1)|skin(1)|stomach(2)	13						GTCGGTAAGCATGTAGGCGGA	0.716																																						ENST00000412055.1																			0				NS(2)|breast(1)|endometrium(3)|large_intestine(3)|lung(1)|skin(1)|stomach(2)	13						c.(1561-1563)aTg>aCg		proline-rich transmembrane protein 3							8	14	12					3																	9989295		2089	4175	6264	SO:0001583	missense	285368					integral to membrane		g.chr3:9989295A>G	AK090993	CCDS43049.1	3p25.3	2011-10-10			ENSG00000163704	ENSG00000163704		"Proline-rich transmembrane proteins"	26591	protein-coding gene	gene with protein product							Standard	NM_207351		Approved	FLJ33674	uc003bul.2	Q5FWE3	OTTHUMG00000155285	ENST00000412055.1:c.1562T>C	3.37:g.9989295A>G	ENSP00000392511:p.Met521Thr					PRRT3-AS1_ENST00000431558.1_RNA	p.M521T	NM_207351.3	NP_997234.3	Q5FWE3	PRRT3_HUMAN			4	1691	-			521					Q49AD0|Q6UXY6|Q8NBC9	Missense_Mutation	SNP	ENST00000412055.1	37	c.1562T>C	CCDS43049.1	.	.	.	.	.	.	.	.	.	.	A	17.85	3.490394	0.64074	.	.	ENSG00000163704	ENST00000412055	T	0.16073	2.37	4.87	4.87	0.63330	.	0.080690	0.50627	D	0.000116	T	0.14657	0.0354	N	0.08118	0	0.80722	D	1	D	0.57899	0.981	P	0.53593	0.73	T	0.16453	-1.0402	9	.	.	.	-25.7365	12.4944	0.55918	1.0:0.0:0.0:0.0	.	521	Q5FWE3	PRRT3_HUMAN	T	521	ENSP00000392511:M521T	.	M	-	2	0	PRRT3	9964295	1.000000	0.71417	1.000000	0.80357	0.821000	0.46438	5.850000	0.69473	2.044000	0.60594	0.460000	0.39030	ATG		0.716	PRRT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339322.1	NM_207351		5	20	0	0	0	1	0	5	20					G	9989295	A	G	9989295	3	3	122	1	0	0	0	0	1	0	0	0	12611	217	8	4	1387	4	PRRT3	3	9989295	Missense_Mutation	SNP	A	TCGA-EJ-A65G-01A-21D-A29Q-08		9989295	188033135	7	6434											
CCDC51	79714	broad.mit.edu	37	chr3	48474343	48474343	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agactcacaggccccttctgCgcctccaggagtaaagcctt	9	8	9	15	1	2	1	1	0	1	1	3	2	3	2	5	2	2	1	5	2	2	3			TCGA-EJ-A65G-01A-21D-A29Q-08	TCGA-EJ-A65G-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bdb0244b-1099-46e0-857e-35d6ae983c53	23c04493-58ff-4af4-a2df-9dbdd52d4e48	g.chr3:48474343C>T	ENST00000395694.2	-	4	796	c.711G>A	c.(709-711)gcG>gcA	p.A237A	PLXNB1_ENST00000448774.2_5'Flank|CCDC51_ENST00000442740.1_Silent_p.A128A|PLXNB1_ENST00000296440.6_5'Flank|CCDC51_ENST00000447018.1_Silent_p.A128A|CCDC51_ENST00000412398.2_Silent_p.A128A|CCDC51_ENST00000395696.1_Silent_p.A237A	NM_001256964.1	NP_001243893.1	Q96ER9	CCD51_HUMAN	coiled-coil domain containing 51	237						integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|nucleus (GO:0005634)				endometrium(4)|kidney(4)|large_intestine(1)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	15				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		GCCCCTTCTGCGCCTCCAGGA	0.597																																						ENST00000395694.2																			0				endometrium(4)|kidney(4)|large_intestine(1)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						c.(709-711)gcG>gcA		coiled-coil domain containing 51							63	68	66					3																	48474343		1915	4123	6038	SO:0001819	synonymous_variant	79714					integral to membrane		g.chr3:48474343C>T	AK022498	CCDS2766.2, CCDS58830.1	3p21.31	2005-12-30			ENSG00000164051	ENSG00000164051			25714	protein-coding gene	gene with protein product						12477932	Standard	NM_001256964		Approved	FLJ12436	uc003ctc.3	Q96ER9	OTTHUMG00000133534	ENST00000395694.2:c.711G>A	3.37:g.48474343C>T						CCDC51_ENST00000412398.2_Silent_p.A128A|CCDC51_ENST00000395696.1_Silent_p.A237A|CCDC51_ENST00000447018.1_Silent_p.A128A|CCDC51_ENST00000442740.1_Silent_p.A128A	p.A237A	NM_001256964.1	NP_001243893.1	Q96ER9	CCD51_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)	4	796	-			237					Q9HA01	Silent	SNP	ENST00000395694.2	37	c.711G>A	CCDS2766.2																																																																																				0.597	CCDC51-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344599.2	NM_024661		4	157	0	0	0	1	0	4	157					T	48474343	C	T	48474343	2	4	122	1	0	0	0	0	0	0	0	1	2821	755	27	1		1	CCDC51	3	48474343	Silent	SNP	C	TCGA-EJ-A65G-01A-21D-A29Q-08	38485048	48474343	149548087	8	6435											
POLQ	10721	broad.mit.edu	37	chr3	121208388	121208388	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atatgctccacaaaattatcAttagttagtgttatgttcca	13	16	5	7	0	1	0	1	0	0	0	3	0	3	0	2	0	1	4	2	0	7	6			TCGA-EJ-A65G-01A-21D-A29Q-08	TCGA-EJ-A65G-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bdb0244b-1099-46e0-857e-35d6ae983c53	23c04493-58ff-4af4-a2df-9dbdd52d4e48	g.chr3:121208388A>G	ENST00000264233.5	-	16	3518	c.3390T>C	c.(3388-3390)aaT>aaC	p.N1130N		NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN	polymerase (DNA directed), theta	1130					ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)	nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|damaged DNA binding (GO:0003684)|DNA-directed DNA polymerase activity (GO:0003887)|single-stranded DNA-dependent ATPase activity (GO:0043142)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		CAAAATTATCATTAGTTAGTG	0.348								DNA polymerases (catalytic subunits)																													Pancreas(152;907 1925 26081 31236 36904)	ENST00000264233.5																			0				NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120						c.(3388-3390)aaT>aaC	DNA polymerases (catalytic subunits)	polymerase (DNA directed), theta							87	87	87					3																	121208388		2203	4300	6503	SO:0001819	synonymous_variant	10721				DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity	g.chr3:121208388A>G	AF052573	CCDS33833.1	3q13.3	2012-05-18			ENSG00000051341	ENSG00000051341	2.7.7.7	"DNA polymerases"	9186	protein-coding gene	gene with protein product		604419				10395804	Standard	NM_199420		Approved	POLH	uc003eee.4	O75417	OTTHUMG00000159396	ENST00000264233.5:c.3390T>C	3.37:g.121208388A>G							p.N1130N	NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN		GBM - Glioblastoma multiforme(114;0.0915)	16	3518	-			1130					O95160|Q6VMB5	Silent	SNP	ENST00000264233.5	37	c.3390T>C	CCDS33833.1																																																																																				0.348	POLQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355097.1	NM_199420		26	67	0	0	0	1	0	26	67					G	121208388	A	G	121208388	2	3	122	1	0	0	0	0	0	0	0	1	12208	214	8	4		4	POLQ	3	121208388	Silent	SNP	A	TCGA-EJ-A65G-01A-21D-A29Q-08	72734045	121208388	76814042	9	6436											
PCDHA1	56147	broad.mit.edu	37	chr5	140167326	140167326	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtctgcgcgggacgcggacgCgcaggagaacgcgctggtgt	6	5	19	11	8	1	1	0	0	1	1	1	4	1	3	0	4	2	2	0	4	1	0			TCGA-EJ-A65G-01A-21D-A29Q-08	TCGA-EJ-A65G-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bdb0244b-1099-46e0-857e-35d6ae983c53	23c04493-58ff-4af4-a2df-9dbdd52d4e48	g.chr5:140167326C>T	ENST00000504120.2	+	1	1451	c.1451C>T	c.(1450-1452)gCg>gTg	p.A484V	PCDHA1_ENST00000394633.3_Missense_Mutation_p.A484V|PCDHA1_ENST00000378133.3_Missense_Mutation_p.A484V	NM_018900.2	NP_061723.1	Q9Y5I3	PCDA1_HUMAN	protocadherin alpha 1	484	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3)	70			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GACGCGGACGCGCAGGAGAAC	0.662																																						ENST00000504120.2																			0				breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3)	70						c.(1450-1452)gCg>gTg									66	71	69					5																	140167326		2203	4299	6502	SO:0001583	missense	0							g.chr5:140167326C>T	AF152479	CCDS54912.1, CCDS54913.1	5q31	2010-11-26				ENSG00000204970		"Cadherins / Protocadherins : Clustered"	8663	other	complex locus constituent	"KIAA0345-like 13"	606307				10380929	Standard	NM_018900		Approved			Q9Y5I3		ENST00000504120.2:c.1451C>T	5.37:g.140167326C>T	ENSP00000420840:p.Ala484Val					PCDHA1_ENST00000394633.3_Missense_Mutation_p.A484V|PCDHA1_ENST00000378133.3_Missense_Mutation_p.A484V	p.A484V	NM_018900.2	NP_061723.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1451	+								O75288|Q9NRT7	Missense_Mutation	SNP	ENST00000504120.2	37	c.1451C>T	CCDS54913.1	.	.	.	.	.	.	.	.	.	.	c	6.504	0.461164	0.12342	.	.	ENSG00000204970	ENST00000504120;ENST00000394633;ENST00000378133	T;T;T	0.01871	4.59;4.59;4.59	3.69	3.69	0.42338	Cadherin (4);Cadherin-like (1);	0.000000	0.41097	U	0.000943	T	0.01870	0.0059	N	0.16862	0.45	0.22996	N	0.998455	B;B;B	0.29188	0.236;0.084;0.198	B;B;B	0.25614	0.053;0.007;0.062	T	0.48681	-0.9014	10	0.45353	T	0.12	.	12.3471	0.55126	0.0:0.7694:0.2306:0.0	.	484;484;484	Q9Y5I3;Q9Y5I3-2;Q9Y5I3-3	PCDA1_HUMAN;.;.	V	484	ENSP00000420840:A484V;ENSP00000378129:A484V;ENSP00000367373:A484V	ENSP00000367373:A484V	A	+	2	0	PCDHA1	140147510	0.000000	0.05858	1.000000	0.80357	0.308000	0.27856	-0.123000	0.10611	1.805000	0.52779	0.549000	0.68633	GCG		0.662	PCDHA1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000389127.1	NM_018900		6	172	0	0	0	1	0	6	172					T	140167326	C	T	140167326	3	4	122	1	0	0	0	0	1	0	0	0	11519	768	27	1	1453	1	PCDHA1	5	140167326	Missense_Mutation	SNP	C	TCGA-EJ-A65G-01A-21D-A29Q-08		140167326	40747934	10	6437											
ZBTB22	9278	broad.mit.edu	37	chr6	33284252	33284252	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agctgaggcccggccttctcGgagtagttcagtgcacttgt	6	11	13	11	2	2	1	1	1	1	0	3	2	2	2	2	3	2	4	2	3	1	4			TCGA-EJ-A65G-01A-21D-A29Q-08	TCGA-EJ-A65G-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bdb0244b-1099-46e0-857e-35d6ae983c53	23c04493-58ff-4af4-a2df-9dbdd52d4e48	g.chr6:33284252G>A	ENST00000431845.2	-	2	593	c.442C>T	c.(442-444)Cga>Tga	p.R148*	TAPBP_ENST00000426633.2_5'Flank|TAPBP_ENST00000434618.2_5'Flank|ZBTB22_ENST00000418724.1_Nonsense_Mutation_p.R148*|TAPBP_ENST00000489157.1_5'Flank|TAPBP_ENST00000456592.2_5'Flank|TAPBP_ENST00000475304.1_5'Flank	NM_005453.4	NP_005444.4	O15209	ZBT22_HUMAN	zinc finger and BTB domain containing 22	148					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(3)	21						CGGCCTTCTCGGAGTAGTTCA	0.592																																						ENST00000431845.2																			0				breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(3)	21						c.(442-444)Cga>Tga		zinc finger and BTB domain containing 22							99	97	98					6																	33284252		2203	4300	6503	SO:0001587	stop_gained	0				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:33284252G>A	Z97183	CCDS4775.1	6p21.3	2013-01-09	2006-04-12	2006-04-12	ENSG00000236104	ENSG00000236104		"-", "BTB/POZ domain containing", "Zinc fingers, C2H2-type"	13085	protein-coding gene	gene with protein product		611439	"zinc finger protein 297"	ZNF297			Standard	NM_005453		Approved	BING1, ZNF297A, fruitless, fru, ZBTB22A	uc010juu.3	O15209	OTTHUMG00000031110	ENST00000431845.2:c.442C>T	6.37:g.33284252G>A	ENSP00000407545:p.Arg148*					ZBTB22_ENST00000418724.1_Nonsense_Mutation_p.R148*	p.R148*	NM_005453.4	NP_005444.4	O15209	ZBT22_HUMAN			2	593	-			148					B0V007|Q5HYV4|Q5STL0|Q5STR7|Q8WV82	Nonsense_Mutation	SNP	ENST00000431845.2	37	c.442C>T	CCDS4775.1	.	.	.	.	.	.	.	.	.	.	G	19.77	3.889567	0.72524	.	.	ENSG00000236104	ENST00000418724;ENST00000431845;ENST00000441117	.	.	.	4.24	4.24	0.50183	.	0.000000	0.31102	N	0.008241	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.17369	T	0.5	.	9.4211	0.38553	0.0:0.0:0.7879:0.2121	.	.	.	.	X	148	.	ENSP00000404403:R148X	R	-	1	2	ZBTB22	33392230	0.048000	0.20356	0.997000	0.53966	0.996000	0.88848	1.080000	0.30779	2.197000	0.70478	0.551000	0.68910	CGA		0.592	ZBTB22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076183.2			4	190	0	0	0	1	0	4	190					A	33284252	G	A	33284252	4	1	122	1	0	0	0	0	0	1	0	0	17527	1124	39	2	1466	2	ZBTB22	6	33284252	Nonsense_Mutation	SNP	G	TCGA-EJ-A65G-01A-21D-A29Q-08		33284252	137830815	11	6438											
BAI3	577	broad.mit.edu	37	chr6	69653743	69653743	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acacggagtatgggaggaatGgtcaccatggagtttatgtt	11	11	14	5	1	1	0	1	0	0	0	1	4	1	4	1	5	0	3	1	5	3	4			TCGA-EJ-A65G-01A-21D-A29Q-08	TCGA-EJ-A65G-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bdb0244b-1099-46e0-857e-35d6ae983c53	23c04493-58ff-4af4-a2df-9dbdd52d4e48	g.chr6:69653743G>T	ENST00000370598.1	+	6	1873	c.1052G>T	c.(1051-1053)tGg>tTg	p.W351L		NM_001704.2	NP_001695	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	351	TSP type-1 2. {ECO:0000255|PROSITE- ProRule:PRU00210}.				G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				TGGGAGGAATGGTCACCATGG	0.403																																						ENST00000370598.1																			0				NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210						c.(1051-1053)tGg>tTg		brain-specific angiogenesis inhibitor 3							232	188	203					6																	69653743		2203	4300	6503	SO:0001583	missense	577				negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr6:69653743G>T	AB005299	CCDS4968.1	6q12	2014-08-08			ENSG00000135298	ENSG00000135298		"-", "GPCR / Class B : Orphans"	945	protein-coding gene	gene with protein product		602684				9533023	Standard	NM_001704		Approved	KIAA0550	uc003pev.4	O60242	OTTHUMG00000014982	ENST00000370598.1:c.1052G>T	6.37:g.69653743G>T	ENSP00000359630:p.Trp351Leu						p.W351L	NM_001704.2	NP_001695.1	O60242	BAI3_HUMAN			6	1873	+		all_lung(197;0.212)	351			TSP type-1 2.		B7Z1K0|O60297|Q2NKN6|Q5VY37|Q9BX54	Missense_Mutation	SNP	ENST00000370598.1	37	c.1052G>T	CCDS4968.1	.	.	.	.	.	.	.	.	.	.	G	32	5.113095	0.94339	.	.	ENSG00000135298	ENST00000370598	T	0.63417	-0.04	5.16	5.16	0.70880	.	0.000000	0.85682	D	0.000000	T	0.73241	0.3562	H	0.98646	4.29	0.80722	D	1	P	0.36199	0.543	B	0.34991	0.193	T	0.83037	-0.0159	10	0.87932	D	0	.	18.8322	0.92144	0.0:0.0:1.0:0.0	.	351	O60242	BAI3_HUMAN	L	351	ENSP00000359630:W351L	ENSP00000359630:W351L	W	+	2	0	BAI3	69710464	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.657000	0.98554	2.673000	0.90976	0.650000	0.86243	TGG		0.403	BAI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041120.1			37	94	1	0	1.67305e-13	1	1.79547e-13	37	94					T	69653743	G	T	69653743	3	4	122	1	0	0	0	0	1	0	0	0	1300	1357	47	5	1066	5	BAI3	6	69653743	Missense_Mutation	SNP	G	TCGA-EJ-A65G-01A-21D-A29Q-08	36369491	69653743	101461324	12	6439											
HIVEP2	3097	broad.mit.edu	37	chr6	143092407	143092407	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actgtccatgtgcatgatctGtggctgggccaggtgcagtg	6	11	15	9	0	1	1	0	1	1	0	2	1	2	1	2	3	2	3	2	3	0	0			TCGA-EJ-A65G-01A-21D-A29Q-08	TCGA-EJ-A65G-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bdb0244b-1099-46e0-857e-35d6ae983c53	23c04493-58ff-4af4-a2df-9dbdd52d4e48	g.chr6:143092407G>A	ENST00000367604.1	-	4	4108	c.3469C>T	c.(3469-3471)Cag>Tag	p.Q1157*	HIVEP2_ENST00000012134.2_Nonsense_Mutation_p.Q1157*|HIVEP2_ENST00000367603.2_Nonsense_Mutation_p.Q1157*			P31629	ZEP2_HUMAN	human immunodeficiency virus type I enhancer binding protein 2	1157					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	100				OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)		TGCATGATCTGTGGCTGGGCC	0.557																																					Esophageal Squamous(107;843 1510 13293 16805 42198)	ENST00000367603.2																			0				NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	100						c.(3469-3471)Cag>Tag		human immunodeficiency virus type I enhancer binding protein 2							78	84	82					6																	143092407		2013	4194	6207	SO:0001587	stop_gained	3097				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:143092407G>A	M60119	CCDS43510.1	6q23-q24	2013-01-08	2001-11-28		ENSG00000010818	ENSG00000010818		"Zinc fingers, C2H2-type"	4921	protein-coding gene	gene with protein product	"c-myc intron binding protein 1"	143054	"human immunodeficiency virus type I enhancer-binding protein 2"			1733857, 2022670	Standard	NM_006734		Approved	MBP-2, HIV-EP2, MIBP1, ZAS2, Schnurri-2, ZNF40B	uc003qjd.3	P31629	OTTHUMG00000015713	ENST00000367604.1:c.3469C>T	6.37:g.143092407G>A	ENSP00000356576:p.Gln1157*					HIVEP2_ENST00000012134.2_Nonsense_Mutation_p.Q1157*|HIVEP2_ENST00000367604.1_Nonsense_Mutation_p.Q1157*	p.Q1157*	NM_006734.3	NP_006725.3	P31629	ZEP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)	5	4211	-			1157					Q02646|Q5THT5|Q9NS05	Nonsense_Mutation	SNP	ENST00000367604.1	37	c.3469C>T	CCDS43510.1	.	.	.	.	.	.	.	.	.	.	G	45	11.955706	0.99621	.	.	ENSG00000010818	ENST00000367604;ENST00000367603;ENST00000012134	.	.	.	5.67	4.8	0.61643	.	0.672954	0.15592	N	0.254351	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.25751	T	0.34	-17.7177	14.0279	0.64597	0.0737:0.0:0.9263:0.0	.	.	.	.	X	1157	.	ENSP00000012134:Q1157X	Q	-	1	0	HIVEP2	143134100	1.000000	0.71417	0.925000	0.36789	0.435000	0.31806	4.355000	0.59424	2.687000	0.91594	0.563000	0.77884	CAG		0.557	HIVEP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042495.1			5	137	0	0	0	1	0	5	137					A	143092407	G	A	143092407	4	1	122	1	0	0	0	0	0	1	0	0	7187	1386	48	3	3895	3	HIVEP2	6	143092407	Nonsense_Mutation	SNP	G	TCGA-EJ-A65G-01A-21D-A29Q-08	73438664	143092407	28022660	13	6440											
OXR1	55074	broad.mit.edu	37	chr8	107752617	107752617	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aattggctatccatggactcTtgtttatggtactggaaaac	11	14	9	7	0	1	0	0	0	1	0	2	2	2	2	1	4	2	3	1	4	6	6	rs367716578		TCGA-EJ-A65G-01A-21D-A29Q-08	TCGA-EJ-A65G-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bdb0244b-1099-46e0-857e-35d6ae983c53	23c04493-58ff-4af4-a2df-9dbdd52d4e48	g.chr8:107752617T>G	ENST00000442977.2	+	13	2312	c.2213T>G	c.(2212-2214)cTt>cGt	p.L738R	OXR1_ENST00000312046.6_Missense_Mutation_p.L703R|OXR1_ENST00000449762.2_Missense_Mutation_p.L80R|OXR1_ENST00000531443.1_Missense_Mutation_p.L710R|OXR1_ENST00000521592.1_5'UTR|OXR1_ENST00000517566.2_Missense_Mutation_p.L737R|OXR1_ENST00000445937.1_Missense_Mutation_p.L710R|OXR1_ENST00000452423.2_Missense_Mutation_p.L158R|OXR1_ENST00000297447.6_Missense_Mutation_p.L107R	NM_001198532.1	NP_001185461.1	Q8N573	OXR1_HUMAN	oxidation resistance 1	738	TLD.				adult walking behavior (GO:0007628)|cellular response to hydroperoxide (GO:0071447)|negative regulation of neuron apoptotic process (GO:0043524)|response to oxidative stress (GO:0006979)	mitochondrion (GO:0005739)|nucleolus (GO:0005730)	oxidoreductase activity (GO:0016491)			NS(2)|breast(2)|endometrium(2)|large_intestine(9)|lung(10)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	31			OV - Ovarian serous cystadenocarcinoma(57;1.81e-09)			CCATGGACTCTTGTTTATGGT	0.378																																						ENST00000445937.1																			0				NS(2)|breast(2)|endometrium(2)|large_intestine(9)|lung(10)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	31						c.(2128-2130)cTt>cGt		oxidation resistance 1							128	118	122					8																	107752617		2203	4299	6502	SO:0001583	missense	55074				cell wall macromolecule catabolic process|response to oxidative stress	mitochondrion		g.chr8:107752617T>G	AF309387	CCDS6304.2, CCDS47909.1, CCDS56547.1, CCDS56548.1, CCDS56549.1, CCDS56550.1	8q23	2013-03-14			ENSG00000164830	ENSG00000164830			15822	protein-coding gene	gene with protein product	"TBC/LysM-associated domain containing 3"	605609				11114193	Standard	NM_181354		Approved	TLDC3	uc011lht.2	Q8N573	OTTHUMG00000167682	ENST00000442977.2:c.2213T>G	8.37:g.107752617T>G	ENSP00000405424:p.Leu738Arg					OXR1_ENST00000517566.2_Missense_Mutation_p.L737R|OXR1_ENST00000312046.6_Missense_Mutation_p.L703R|OXR1_ENST00000452423.2_Missense_Mutation_p.L158R|OXR1_ENST00000297447.6_Missense_Mutation_p.L107R|OXR1_ENST00000531443.1_Missense_Mutation_p.L710R|OXR1_ENST00000521592.1_5'UTR|OXR1_ENST00000449762.2_Missense_Mutation_p.L80R|OXR1_ENST00000442977.2_Missense_Mutation_p.L738R	p.L710R	NM_018002.3	NP_060472.2	Q8N573	OXR1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;1.81e-09)		13	2390	+			738					A6NK11|A8KA34|B3KXL1|B7Z402|B7Z8N5|D3HIS6|Q3LIB5|Q6ZVK9|Q8N8V0|Q9H266|Q9NWC7	Missense_Mutation	SNP	ENST00000442977.2	37	c.2129T>G	CCDS56548.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	24.3|24.3	4.511467|4.511467	0.85389|0.85389	.|.	.|.	ENSG00000164830|ENSG00000164830	ENST00000445937;ENST00000531443;ENST00000517566;ENST00000452423;ENST00000442977;ENST00000312046;ENST00000449762;ENST00000297447|ENST00000519415	T;T;T;T;T;T;T;T|T	0.52526|0.54479	0.66;0.66;0.66;0.66;0.66;0.66;0.66;0.66|0.57	5.36|5.36	5.36|5.36	0.76844|0.76844	TLDc (2);|.	0.000000|0.000000	0.85682|0.85682	D|D	0.000000|0.000000	T|T	0.78515|0.78515	0.4295|0.4295	M|M	0.93375|0.93375	3.41|3.41	0.80722|0.80722	D|D	1|1	D;D;D;D;D;D|.	0.89917|.	1.0;1.0;1.0;1.0;0.999;1.0|.	D;D;D;D;D;D|.	0.97110|.	1.0;1.0;1.0;0.998;0.999;0.999|.	D|D	0.84467|0.84467	0.0597|0.0597	10|8	0.72032|0.62326	D|D	0.01|0.03	-14.6952|-14.6952	15.3618|15.3618	0.74483|0.74483	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	703;738;737;80;107;710|.	Q8N573-2;Q8N573;D3HIS6;B7Z8N5;Q8N573-4;Q8N573-5|.	.;OXR1_HUMAN;.;.;.;.|.	R|V	710;710;737;158;738;703;80;107|382	ENSP00000402918:L710R;ENSP00000431966:L710R;ENSP00000429205:L737R;ENSP00000395032:L158R;ENSP00000405424:L738R;ENSP00000311026:L703R;ENSP00000408659:L80R;ENSP00000297447:L107R|ENSP00000430701:L382V	ENSP00000297447:L107R|ENSP00000430701:L382V	L|L	+|+	2|1	0|2	OXR1|OXR1	107821793|107821793	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	8.040000|8.040000	0.89188|0.89188	2.018000|2.018000	0.59344|0.59344	0.533000|0.533000	0.62120|0.62120	CTT|TTG		0.378	OXR1-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_181354		5	98	0	0	0	1	0	5	98					G	107752617	T	G	107752617	3	3	122	1	0	0	0	0	1	0	0	0	11334	1609	56	5	2378	5	OXR1	8	107752617	Missense_Mutation	SNP	T	TCGA-EJ-A65G-01A-21D-A29Q-08		107752617	38611405	14	6441											
KIAA1045	23349	broad.mit.edu	37	chr9	34978067	34978067	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcctctacatcctggctgctCgccccaacagcgcagccatt	7	9	7	18	2	1	0	0	0	1	0	4	0	3	0	5	1	5	3	5	1	2	2			TCGA-EJ-A65G-01A-21D-A29Q-08	TCGA-EJ-A65G-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bdb0244b-1099-46e0-857e-35d6ae983c53	23c04493-58ff-4af4-a2df-9dbdd52d4e48	g.chr9:34978067C>T	ENST00000242315.3	+	8	1244	c.1162C>T	c.(1162-1164)Cgc>Tgc	p.R388C	KIAA1045_ENST00000544237.1_Missense_Mutation_p.R388C|KIAA1045_ENST00000476115.2_3'UTR	NM_015297.1	NP_056112.1	Q9UPV7	K1045_HUMAN	KIAA1045	388							metal ion binding (GO:0046872)			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19			LUSC - Lung squamous cell carcinoma(32;0.00575)			CCTGGCTGCTCGCCCCAACAG	0.542																																						ENST00000242315.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(1162-1164)Cgc>Tgc		KIAA1045							128	131	130					9																	34978067		2059	4182	6241	SO:0001583	missense	23349						calcium ion binding	g.chr9:34978067C>T	AB028968	CCDS43796.1	9p13.2	2008-02-05			ENSG00000122733	ENSG00000122733			29180	protein-coding gene	gene with protein product						10470851	Standard	NM_015297		Approved		uc003zvr.3	Q9UPV7	OTTHUMG00000019844	ENST00000242315.3:c.1162C>T	9.37:g.34978067C>T	ENSP00000242315:p.Arg388Cys					KIAA1045_ENST00000476115.2_3'UTR|KIAA1045_ENST00000544237.1_Missense_Mutation_p.R388C	p.R388C	NM_015297.1	NP_056112.1	Q9UPV7	K1045_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00575)		8	1244	+			388					B7Z253|Q58FE9|Q5T662	Missense_Mutation	SNP	ENST00000242315.3	37	c.1162C>T	CCDS43796.1	.	.	.	.	.	.	.	.	.	.	C	26.3	4.723933	0.89298	.	.	ENSG00000122733	ENST00000544237;ENST00000242315	.	.	.	5.12	5.12	0.69794	.	0.000000	0.85682	D	0.000000	T	0.68081	0.2962	L	0.36672	1.1	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.71041	-0.4707	9	0.87932	D	0	.	16.0591	0.80826	0.0:1.0:0.0:0.0	.	388	Q9UPV7	K1045_HUMAN	C	388	.	ENSP00000242315:R388C	R	+	1	0	KIAA1045	34968067	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.426000	0.59882	2.550000	0.86006	0.643000	0.83706	CGC		0.542	KIAA1045-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052256.2	XM_048592		33	124	0	0	0	1	0	33	124					T	34978067	C	T	34978067	3	4	122	1	0	0	0	0	1	0	0	0	8207	884	31	2	1188	2	KIAA1045	9	34978067	Missense_Mutation	SNP	C	TCGA-EJ-A65G-01A-21D-A29Q-08		34978067	106235364	15	6442											
DFNB31	25861	broad.mit.edu	37	chr9	117168901	117168901	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gcctcttggagctggggttgGcaggggagacggaggcatag	7	7	20	7	1	1	1	0	0	1	1	1	4	1	3	1	8	1	4	1	8	1	3			TCGA-EJ-A65G-01A-21D-A29Q-08	TCGA-EJ-A65G-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bdb0244b-1099-46e0-857e-35d6ae983c53	23c04493-58ff-4af4-a2df-9dbdd52d4e48	g.chr9:117168901G>C	ENST00000362057.3	-	9	2138	c.1970C>G	c.(1969-1971)gCc>gGc	p.A657G	DFNB31_ENST00000374059.3_Missense_Mutation_p.A306G|DFNB31_ENST00000265134.6_Missense_Mutation_p.A274G	NM_001173425.1|NM_015404.3	NP_001166896.1|NP_056219	Q9P202	WHRN_HUMAN	deafness, autosomal recessive 31	657	Pro-rich.				inner ear receptor stereocilium organization (GO:0060122)|retina homeostasis (GO:0001895)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	actin filament (GO:0005884)|cilium (GO:0005929)|cytoplasm (GO:0005737)|stereocilia ankle link complex (GO:0002142)|stereocilium (GO:0032420)				central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(14)|ovary(5)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						GCTGGGGTTGGCAGGGGAGAC	0.682																																						ENST00000362057.3																			0				central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(14)|ovary(5)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						c.(1969-1971)gCc>gGc		deafness, autosomal recessive 31							52	59	57					9																	117168901		2203	4299	6502	SO:0001583	missense	25861				inner ear receptor stereocilium organization|retina homeostasis|sensory perception of light stimulus|sensory perception of sound	cytoplasm|growth cone|stereocilium		g.chr9:117168901G>C	AK056190	CCDS6806.1, CCDS43870.1	9q32	2013-06-19			ENSG00000095397	ENSG00000095397			16361	protein-coding gene	gene with protein product	"whirlin"	607928				12833159, 17171570	Standard	NM_015404		Approved	CIP98, WHRN, USH2D, PDZD7B	uc004biz.4	Q9P202	OTTHUMG00000020539	ENST00000362057.3:c.1970C>G	9.37:g.117168901G>C	ENSP00000354623:p.Ala657Gly					DFNB31_ENST00000374059.3_Missense_Mutation_p.A306G|DFNB31_ENST00000265134.6_Missense_Mutation_p.A274G	p.A657G	NM_001173425.1|NM_015404.3	NP_001166896.1|NP_056219.3	Q9P202	WHRN_HUMAN			9	2138	-			657			Pro-rich.		A5PKU1|A5PKZ9|Q5TAU9|Q5TAV0|Q5TAV1|Q5TAV2|Q96MZ9|Q9H9F4|Q9UFZ3	Missense_Mutation	SNP	ENST00000362057.3	37	c.1970C>G	CCDS6806.1	.	.	.	.	.	.	.	.	.	.	G	10.25	1.299398	0.23650	.	.	ENSG00000095397	ENST00000265134;ENST00000374059;ENST00000362057	T;T;T	0.09163	3.93;3.91;3.01	4.93	2.11	0.27256	.	0.317372	0.29093	N	0.013167	T	0.10508	0.0257	M	0.67953	2.075	0.19575	N	0.999962	B;B;B	0.32526	0.203;0.258;0.374	B;B;B	0.26969	0.05;0.075;0.068	T	0.18745	-1.0327	10	0.36615	T	0.2	-18.2912	7.2966	0.26397	0.1459:0.0:0.7164:0.1377	.	657;657;306	B9EGE6;Q9P202;Q9P202-4	.;WHRN_HUMAN;.	G	274;306;657	ENSP00000265134:A274G;ENSP00000363172:A306G;ENSP00000354623:A657G	ENSP00000265134:A274G	A	-	2	0	DFNB31	116208722	1.000000	0.71417	0.960000	0.40013	0.307000	0.27823	5.199000	0.65152	0.157000	0.19338	-0.325000	0.08501	GCC		0.682	DFNB31-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053776.2	NM_015404		6	151	0	0	0	1	0	6	151					C	117168901	G	C	117168901	3	2	122	1	0	0	0	0	1	0	0	0	4455	1203	42	5	769	5	DFNB31	9	117168901	Missense_Mutation	SNP	G	TCGA-EJ-A65G-01A-21D-A29Q-08	82190834	117168901	24044530	16	6443											
PANK1	53354	broad.mit.edu	37	chr10	91359177	91359177	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	aatagtaacattctggcttgCcgttgaagccaacagagtcg	12	10	10	9	2	1	2	0	1	1	1	2	2	1	2	2	1	4	3	2	1	5	5			TCGA-EJ-A65G-01A-21D-A29Q-08	TCGA-EJ-A65G-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bdb0244b-1099-46e0-857e-35d6ae983c53	23c04493-58ff-4af4-a2df-9dbdd52d4e48	g.chr10:91359177C>T	ENST00000307534.4	-	3	1297	c.1142G>A	c.(1141-1143)gGc>gAc	p.G381D	PANK1_ENST00000371774.2_Missense_Mutation_p.G183D|PANK1_ENST00000342512.3_Missense_Mutation_p.G156D|PANK1_ENST00000322191.6_Missense_Mutation_p.G156D	NM_148977.2	NP_683878.1	Q8TE04	PANK1_HUMAN	pantothenate kinase 1	381					coenzyme A biosynthetic process (GO:0015937)|coenzyme biosynthetic process (GO:0009108)|pantothenate metabolic process (GO:0015939)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cell periphery (GO:0071944)|clathrin coat (GO:0030118)|cytosol (GO:0005829)|nucleus (GO:0005634)|recycling endosome (GO:0055037)	ATP binding (GO:0005524)|pantothenate kinase activity (GO:0004594)			cervix(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)	11						TTCTGGCTTGCCGTTGAAGCC	0.428																																						ENST00000307534.4																			0				cervix(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)	11						c.(1141-1143)gGc>gAc		pantothenate kinase 1	Bezafibrate(DB01393)						142	132	136					10																	91359177		2203	4300	6503	SO:0001583	missense	53354				coenzyme A biosynthetic process|pantothenate metabolic process	cytosol|nucleus	ATP binding|pantothenate kinase activity	g.chr10:91359177C>T	AF355198	CCDS7405.1, CCDS7406.1, CCDS31244.1	10q23.31	2008-05-14	2002-11-13	2002-11-15	ENSG00000152782	ENSG00000152782			8598	protein-coding gene	gene with protein product		606160	"pantothenate kinase"	PANK		11809413	Standard	NM_148977		Approved	MGC24596, PANK1a, PANK1b	uc001kgp.2	Q8TE04	OTTHUMG00000018718	ENST00000307534.4:c.1142G>A	10.37:g.91359177C>T	ENSP00000302108:p.Gly381Asp					PANK1_ENST00000322191.6_Missense_Mutation_p.G156D|PANK1_ENST00000371774.2_Missense_Mutation_p.G183D|PANK1_ENST00000342512.3_Missense_Mutation_p.G156D	p.G381D	NM_148977.2	NP_683878.1	Q8TE04	PANK1_HUMAN			3	1297	-			381					A6NIP0|Q7RTX6|Q7Z495|Q8TBQ8	Missense_Mutation	SNP	ENST00000307534.4	37	c.1142G>A	CCDS31244.1	.	.	.	.	.	.	.	.	.	.	C	33	5.213226	0.95069	.	.	ENSG00000152782	ENST00000342512;ENST00000322191;ENST00000371774;ENST00000307534;ENST00000371775	D;D;D;D	0.99515	-6.06;-6.06;-6.06;-6.06	5.91	5.91	0.95273	.	0.114181	0.64402	D	0.000011	D	0.99396	0.9787	M	0.65975	2.015	0.80722	D	1	B;D;B;B	0.76494	0.159;0.999;0.391;0.093	B;D;B;B	0.70016	0.088;0.967;0.196;0.061	D	0.99888	1.1127	10	0.30854	T	0.27	.	20.3018	0.98617	0.0:1.0:0.0:0.0	.	183;381;156;156	Q8TE04-4;Q8TE04;Q8TE04-3;Q8TE04-2	.;PANK1_HUMAN;.;.	D	156;156;183;381;244	ENSP00000345118:G156D;ENSP00000318526:G156D;ENSP00000360839:G183D;ENSP00000302108:G381D	ENSP00000302108:G381D	G	-	2	0	PANK1	91349157	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.070000	0.71220	2.799000	0.96334	0.650000	0.86243	GGC		0.428	PANK1-201	KNOWN	basic|CCDS	protein_coding	protein_coding				4	175	0	0	0	1	0	4	175					T	91359177	C	T	91359177	3	4	122	1	0	0	0	0	1	0	0	0	11416	739	26	3	674	3	PANK1	10	91359177	Missense_Mutation	SNP	C	TCGA-EJ-A65G-01A-21D-A29Q-08		91359177	44175570	17	6444											
CUTC	51076	broad.mit.edu	37	chr10	101503043	101503043	+	Nonsense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attcgtcttgccaagctttaTggtgctgatggtttggtttt	5	19	11	6	1	1	1	0	1	1	0	2	1	1	1	1	3	3	4	1	3	2	7			TCGA-EJ-A65G-01A-21D-A29Q-08	TCGA-EJ-A65G-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bdb0244b-1099-46e0-857e-35d6ae983c53	23c04493-58ff-4af4-a2df-9dbdd52d4e48	g.chr10:101503043T>A	ENST00000370476.5	+	4	456	c.327T>A	c.(325-327)taT>taA	p.Y109*	CUTC_ENST00000493385.1_3'UTR	NM_015960.2	NP_057044.2	Q9NTM9	CUTC_HUMAN	cutC copper transporter	109					copper ion homeostasis (GO:0055070)|copper ion transport (GO:0006825)|protein tetramerization (GO:0051262)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	copper ion binding (GO:0005507)			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14		Colorectal(252;0.234)		Epithelial(162;3e-10)|all cancers(201;2.37e-08)		CCAAGCTTTATGGTGCTGATG	0.428																																						ENST00000370476.5																			0				breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14						c.(325-327)taT>taA		cutC copper transporter							243	224	230					10																	101503043		2203	4300	6503	SO:0001587	stop_gained	51076				copper ion homeostasis|copper ion transport|protein tetramerization	cytoplasm|nucleus	copper ion binding	g.chr10:101503043T>A	AF132966	CCDS7483.1	10q24.31	2013-07-31	2013-07-31		ENSG00000119929	ENSG00000119929			24271	protein-coding gene	gene with protein product		610101	"cutC copper transporter homolog (E. coli)"			16182249	Standard	NM_015960		Approved	CGI-32	uc001kqd.4	Q9NTM9	OTTHUMG00000018889	ENST00000370476.5:c.327T>A	10.37:g.101503043T>A	ENSP00000359507:p.Tyr109*					CUTC_ENST00000493385.1_3'UTR	p.Y109*	NM_015960.2	NP_057044.2	Q9NTM9	CUTC_HUMAN		Epithelial(162;3e-10)|all cancers(201;2.37e-08)	4	456	+		Colorectal(252;0.234)	109					Q5TCZ8|Q9Y321	Nonsense_Mutation	SNP	ENST00000370476.5	37	c.327T>A	CCDS7483.1	.	.	.	.	.	.	.	.	.	.	T	19.40	3.820790	0.71028	.	.	ENSG00000119929	ENST00000370476;ENST00000370472	.	.	.	6.07	4.94	0.65067	.	0.155685	0.56097	D	0.000024	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05620	T	0.96	-10.8994	9.565	0.39394	0.0:0.1504:0.0:0.8496	.	.	.	.	X	109;46	.	ENSP00000359503:Y46X	Y	+	3	2	CUTC	101493033	0.992000	0.36948	1.000000	0.80357	0.991000	0.79684	0.201000	0.17276	1.126000	0.42016	0.477000	0.44152	TAT		0.428	CUTC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049811.1	NM_015960		10	147	0	0	0	1	0	10	147					A	101503043	T	A	101503043	4	1	122	1	0	0	0	0	0	1	0	0	4063	1471	51	5	341	5	CUTC	10	101503043	Nonsense_Mutation	SNP	T	TCGA-EJ-A65G-01A-21D-A29Q-08	10143866	101503043	34031704	18	6445											
RRAS2	22800	broad.mit.edu	37	chr11	14316390	14316390	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcatggctccaaactcttctTgtcctgctgtatccaaaact	9	14	5	13	0	3	0	1	0	2	0	6	0	6	0	3	1	3	3	3	1	4	3	rs113954997		TCGA-EJ-A65G-01A-21D-A29Q-08	TCGA-EJ-A65G-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bdb0244b-1099-46e0-857e-35d6ae983c53	23c04493-58ff-4af4-a2df-9dbdd52d4e48	g.chr11:14316390T>A	ENST00000256196.4	-	3	528	c.215A>T	c.(214-216)cAa>cTa	p.Q72L	RRAS2_ENST00000414023.2_5'UTR|RRAS2_ENST00000526063.1_5'UTR|RRAS2_ENST00000532814.1_5'UTR|RRAS2_ENST00000529237.1_5'UTR|RRAS2_ENST00000534746.1_5'UTR|RRAS2_ENST00000537760.1_Missense_Mutation_p.Q37L|RRAS2_ENST00000545643.1_Missense_Mutation_p.Q78L			P62070	RRAS2_HUMAN	related RAS viral (r-ras) oncogene homolog 2	72			Q -> L (in an ovarian cancer sample; somatic mutation). {ECO:0000269|PubMed:8052619}.		osteoblast differentiation (GO:0001649)|positive regulation of cell migration (GO:0030335)|Ras protein signal transduction (GO:0007265)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)	p.Q72L(2)		breast(3)|endometrium(4)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	12				Epithelial(150;0.203)		AAACTCTTCTTGTCCTGCTGT	0.393																																						ENST00000545643.1																			2	Substitution - Missense(2)	p.Q72L(2)	lung(1)|endometrium(1)	breast(3)|endometrium(4)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	12						c.(232-234)cAa>cTa		related RAS viral (r-ras) oncogene homolog 2							116	118	117					11																	14316390		2200	4294	6494	SO:0001583	missense	22800					endoplasmic reticulum|plasma membrane	GTP binding|GTPase activity|protein binding	g.chr11:14316390T>A	M31468	CCDS7814.1, CCDS44544.1, CCDS53603.1	11p15.2	2014-05-09			ENSG00000133818	ENSG00000133818			17271	protein-coding gene	gene with protein product		600098				2108320, 8052619	Standard	NM_012250		Approved	TC21	uc001mlf.4	P62070	OTTHUMG00000165756	ENST00000256196.4:c.215A>T	11.37:g.14316390T>A	ENSP00000256196:p.Gln72Leu					RRAS2_ENST00000529237.1_5'UTR|RRAS2_ENST00000537760.1_Missense_Mutation_p.Q37L|RRAS2_ENST00000532814.1_5'UTR|RRAS2_ENST00000534746.1_5'UTR|RRAS2_ENST00000414023.2_5'UTR|RRAS2_ENST00000256196.4_Missense_Mutation_p.Q72L|RRAS2_ENST00000526063.1_5'UTR	p.Q78L	NM_012250.5	NP_036382.2	P62070	RRAS2_HUMAN		Epithelial(150;0.203)	3	546	-			72					B2R9Z3|B7Z5Z2|B7Z6C4|B7Z7H6|P17082	Missense_Mutation	SNP	ENST00000256196.4	37	c.233A>T	CCDS7814.1	.	.	.	.	.	.	.	.	.	.	T	27.8	4.861739	0.91433	.	.	ENSG00000133818	ENST00000537760;ENST00000545643;ENST00000256196;ENST00000531807	D;D;D;D	0.83992	-1.79;-1.79;-1.79;-1.79	5.57	5.57	0.84162	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.93789	0.8014	H	0.97365	3.99	0.80722	D	1	D;P	0.67145	0.996;0.946	D;P	0.63033	0.91;0.473	D	0.95850	0.8874	10	0.87932	D	0	.	15.3905	0.74739	0.0:0.0:0.0:1.0	.	78;72	B7Z5Z2;P62070	.;RRAS2_HUMAN	L	37;78;72;53	ENSP00000437547:Q37L;ENSP00000441722:Q78L;ENSP00000256196:Q72L;ENSP00000435453:Q53L	ENSP00000256196:Q72L	Q	-	2	0	RRAS2	14272966	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.702000	0.84576	2.127000	0.65507	0.402000	0.26972	CAA		0.393	RRAS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386035.1	NM_012250		11	114	0	0	0	1	0	11	114					A	14316390	T	A	14316390	3	1	122	1	0	0	0	0	1	0	0	0	13677	1812	63	5	415	5	RRAS2	11	14316390	Missense_Mutation	SNP	T	TCGA-EJ-A65G-01A-21D-A29Q-08		14316390	120690126	19	6446											
SLC5A12	159963	broad.mit.edu	37	chr11	26702711	26702711	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tggtgcagggtaaatgaaggCcccaatggccacccaaaatg	13	6	12	10	0	0	1	0	1	0	0	0	1	0	1	4	4	1	2	4	4	6	1			TCGA-EJ-A65G-01A-21D-A29Q-08	TCGA-EJ-A65G-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bdb0244b-1099-46e0-857e-35d6ae983c53	23c04493-58ff-4af4-a2df-9dbdd52d4e48	g.chr11:26702711C>T	ENST00000396005.3	-	12	1675	c.1366G>A	c.(1366-1368)Gcc>Acc	p.A456T		NM_178498.3	NP_848593.2	Q1EHB4	SC5AC_HUMAN	solute carrier family 5 (sodium/monocarboxylate cotransporter), member 12	456					sodium ion transport (GO:0006814)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	symporter activity (GO:0015293)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)	35						TAAATGAAGGCCCCAATGGCC	0.468																																						ENST00000396005.3																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)	35						c.(1366-1368)Gcc>Acc		solute carrier family 5 (sodium/monocarboxylate cotransporter), member 12							68	66	67					11																	26702711		1901	4117	6018	SO:0001583	missense	159963				sodium ion transport	apical plasma membrane|integral to membrane	symporter activity	g.chr11:26702711C>T	BC049207	CCDS7860.2	11p14.2	2013-07-19	2013-07-19		ENSG00000148942	ENSG00000148942		"Solute carriers"	28750	protein-coding gene	gene with protein product		612455	"solute carrier family 5 (sodium/glucose cotransporter), member 12"			12477932	Standard	NM_178498		Approved	MGC52019, SMCT2	uc001mra.2	Q1EHB4	OTTHUMG00000150706	ENST00000396005.3:c.1366G>A	11.37:g.26702711C>T	ENSP00000379326:p.Ala456Thr						p.A456T	NM_178498.3	NP_848593.2	Q1EHB4	SC5AC_HUMAN			12	1675	-			456					Q86UC7	Missense_Mutation	SNP	ENST00000396005.3	37	c.1366G>A	CCDS7860.2	.	.	.	.	.	.	.	.	.	.	C	19.94	3.919264	0.73098	.	.	ENSG00000148942	ENST00000396005	D	0.86030	-2.06	5.52	3.59	0.41128	.	0.685367	0.11593	U	0.548539	D	0.82356	0.5019	L	0.45137	1.4	0.80722	D	1	P	0.42161	0.772	B	0.40825	0.341	T	0.78848	-0.2042	10	0.72032	D	0.01	.	14.0823	0.64932	0.2476:0.7524:0.0:0.0	.	456	Q1EHB4	SC5AC_HUMAN	T	456	ENSP00000379326:A456T	ENSP00000379326:A456T	A	-	1	0	SLC5A12	26659287	0.164000	0.22935	0.975000	0.42487	0.947000	0.59692	2.443000	0.44881	0.639000	0.30564	0.655000	0.94253	GCC		0.468	SLC5A12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319681.1	NM_178498		11	20	0	0	0	1	0	11	20					T	26702711	C	T	26702711	3	4	122	1	0	0	0	0	1	0	0	0	14664	739	26	3	506	3	SLC5A12	11	26702711	Missense_Mutation	SNP	C	TCGA-EJ-A65G-01A-21D-A29Q-08	12386321	26702711	108303805	20	6447											
OR8K3	219473	broad.mit.edu	37	chr11	56085932	56085932	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggcatgattgtcctcaccaaGttggactccaggttgcaaac	10	10	10	11	0	1	1	1	1	0	0	3	2	3	2	3	3	2	4	3	3	2	3			TCGA-EJ-A65G-01A-21D-A29Q-08	TCGA-EJ-A65G-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bdb0244b-1099-46e0-857e-35d6ae983c53	23c04493-58ff-4af4-a2df-9dbdd52d4e48	g.chr11:56085932G>T	ENST00000312711.1	+	1	150	c.150G>T	c.(148-150)aaG>aaT	p.K50N		NM_001005202.1	NP_001005202.1	Q8NH51	OR8K3_HUMAN	olfactory receptor, family 8, subfamily K, member 3	50						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(2)|endometrium(3)|large_intestine(6)|liver(2)|lung(15)|ovary(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	40	Esophageal squamous(21;0.00448)					TCCTCACCAAGTTGGACTCCA	0.433																																						ENST00000312711.1																			0				central_nervous_system(2)|endometrium(3)|large_intestine(6)|liver(2)|lung(15)|ovary(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	40						c.(148-150)aaG>aaT		olfactory receptor, family 8, subfamily K, member 3							215	202	206					11																	56085932		2201	4296	6497	SO:0001583	missense	219473				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56085932G>T	AB065541	CCDS31527.1	11q11	2012-08-09			ENSG00000181689	ENSG00000181689		"GPCR / Class A : Olfactory receptors"	15313	protein-coding gene	gene with protein product							Standard	NM_001005202		Approved		uc010rjf.2	Q8NH51	OTTHUMG00000166855	ENST00000312711.1:c.150G>T	11.37:g.56085932G>T	ENSP00000323555:p.Lys50Asn						p.K50N	NM_001005202.1	NP_001005202.1	Q8NH51	OR8K3_HUMAN			1	150	+	Esophageal squamous(21;0.00448)		50					Q6IFC4	Missense_Mutation	SNP	ENST00000312711.1	37	c.150G>T	CCDS31527.1	.	.	.	.	.	.	.	.	.	.	G	1.754	-0.488616	0.04352	.	.	ENSG00000181689	ENST00000312711	T	0.03004	4.08	4.56	1.61	0.23674	GPCR, rhodopsin-like superfamily (1);	0.390052	0.24766	N	0.035763	T	0.02727	0.0082	L	0.33137	0.985	0.09310	N	1	B	0.12630	0.006	B	0.15870	0.014	T	0.45702	-0.9243	10	0.22706	T	0.39	.	4.8843	0.13696	0.1826:0.0:0.648:0.1693	.	50	Q8NH51	OR8K3_HUMAN	N	50	ENSP00000323555:K50N	ENSP00000323555:K50N	K	+	3	2	OR8K3	55842508	0.000000	0.05858	0.003000	0.11579	0.004000	0.04260	-1.033000	0.03571	0.249000	0.21456	-0.154000	0.13518	AAG		0.433	OR8K3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391602.1	NM_001005202		36	140	1	0	1.08052e-11	1	1.13197e-11	36	140					T	56085932	G	T	56085932	3	4	122	1	0	0	0	0	1	0	0	0	11244	1020	36	5	152	5	OR8K3	11	56085932	Missense_Mutation	SNP	G	TCGA-EJ-A65G-01A-21D-A29Q-08	29383221	56085932	78920584	21	6448											
OR5M10	390167	broad.mit.edu	37	chr11	56344440	56344440	+	Frame_Shift_Del	DEL	C	C	-																															cgtacatgcagaagagggttCcataaaacaaagtgactatt																										TCGA-EJ-A65G-01A-21D-A29Q-08	TCGA-EJ-A65G-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bdb0244b-1099-46e0-857e-35d6ae983c53	23c04493-58ff-4af4-a2df-9dbdd52d4e48	g.chr11:56344440delC	ENST00000526812.2	-	1	823	c.758delG	c.(757-759)ggafs	p.G253fs		NM_001004741.1	NP_001004741.1	Q6IEU7	OR5MA_HUMAN	olfactory receptor, family 5, subfamily M, member 10	253						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(15)|upper_aerodigestive_tract(2)|urinary_tract(2)	25						GAAGAGGGTTCCATAAAACAA	0.438																																						ENST00000526812.2																			0				central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(15)|upper_aerodigestive_tract(2)|urinary_tract(2)	25						c.(757-759)gafs		olfactory receptor, family 5, subfamily M, member 10							102	99	100					11																	56344440		1802	4048	5850	SO:0001589	frameshift_variant	390167				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56344440delC	BK004515	CCDS53630.1	11q11	2012-08-09				ENSG00000254834		"GPCR / Class A : Olfactory receptors"	15290	protein-coding gene	gene with protein product							Standard	NM_001004741		Approved		uc001niz.1	Q6IEU7		ENST00000526812.2:c.758delG	11.37:g.56344440delC	ENSP00000436004:p.Gly253fs						p.G253fs	NM_001004741.1	NP_001004741.1	Q6IEU7	OR5MA_HUMAN			1	823	-			253					B9EIL9	Frame_Shift_Del	DEL	ENST00000526812.2	37	c.758delG	CCDS53630.1																																																																																				0.438	OR5M10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391609.1	NM_001004741		48	184						48	184	---	---	---	---	-	56344440	C	-	56344440	7	5	122	1	0	1	0	1	0	0	0	0	11173	855	30	0	193	0	OR5M10	11	56344440	Frame_Shift_Del	DEL	C	TCGA-EJ-A65G-01A-21D-A29Q-08	258508	56344440	78662076	22	6449											
PRB4	5545	broad.mit.edu	37	chr12	11461642	11461642	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gctttcctggatgaggtgggGgaccttgggactggttgcct	4	12	17	8	0	0	1	0	1	0	0	1	4	1	4	3	6	1	2	3	6	0	3			TCGA-EJ-A65G-01A-21D-A29Q-08	TCGA-EJ-A65G-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bdb0244b-1099-46e0-857e-35d6ae983c53	23c04493-58ff-4af4-a2df-9dbdd52d4e48	g.chr12:11461642G>A	ENST00000535904.1	-	3	308	c.275C>T	c.(274-276)cCc>cTc	p.P92L	PRB4_ENST00000279575.1_Missense_Mutation_p.P92L|PRB4_ENST00000445719.2_Missense_Mutation_p.P92L			P10163	PRB4_HUMAN	proline-rich protein BstNI subfamily 4	113	9.5 X 21 AA tandem repeats of K-P-[EQ]- [GR]-[PR]-[PR]-P-Q-G-G-N-Q-[PS]-[QH]- [RG]-[PT]-P-P-[PH]-P-G.			Missing (in Ref. 7; CAA30542). {ECO:0000305}.		extracellular region (GO:0005576)				breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|skin(4)|upper_aerodigestive_tract(3)	30						ATGAGGTGGGGGACCTTGGGA	0.612										HNSCC(22;0.051)																												ENST00000279575.1																			0				breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|skin(4)|upper_aerodigestive_tract(3)	30						c.(274-276)cCc>cTc		proline-rich protein BstNI subfamily 4							313	336	328					12																	11461642		2203	4300	6503	SO:0001583	missense	5545					extracellular region		g.chr12:11461642G>A		CCDS8641.1, CCDS58208.1	12p13.2	2012-10-02			ENSG00000230657	ENSG00000230657			9340	protein-coding gene	gene with protein product		180990					Standard	NM_002723		Approved		uc001qzt.4	P10163	OTTHUMG00000169116	ENST00000535904.1:c.275C>T	12.37:g.11461642G>A	ENSP00000442834:p.Pro92Leu	HNSCC(22;0.051)				PRB4_ENST00000535904.1_Missense_Mutation_p.P92L|PRB4_ENST00000445719.2_Missense_Mutation_p.P92L	p.P92L	NM_001261399.1|NM_002723.4	NP_001248328.1|NP_002714.2	P10163	PRB4_HUMAN			3	308	-			92	Missing (in Ref. 7; CAA30542).		9.5 X 21 AA tandem repeats of K-P-[EQ]- [GR]-[PR]-[PR]-P-Q-G-G-N-Q-[PS]-[QH]- [RG]-[PT]-P-P-[PH]-P-G.		A1L439|O00600|P02813|P10161|P10162|P81489	Missense_Mutation	SNP	ENST00000535904.1	37	c.275C>T	CCDS8641.1	.	.	.	.	.	.	.	.	.	.	.	5.562	0.288588	0.10513	.	.	ENSG00000230657	ENST00000279575;ENST00000535904;ENST00000445719	T;T;T	0.05996	3.36;3.36;3.36	0.805	0.805	0.18703	.	.	.	.	.	T	0.18882	0.0453	M	0.76574	2.34	0.09310	N	1	D	0.76494	0.999	D	0.76575	0.988	T	0.05903	-1.0857	9	0.66056	D	0.02	.	4.9008	0.13773	0.0:0.0:1.0:0.0	.	92	E9PAL0	.	L	92	ENSP00000279575:P92L;ENSP00000442834:P92L;ENSP00000412740:P92L	ENSP00000279575:P92L	P	-	2	0	PRB4	11352909	0.000000	0.05858	0.002000	0.10522	0.013000	0.08279	-0.289000	0.08365	0.698000	0.31739	0.205000	0.17691	CCC		0.612	PRB4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000402308.1	NM_002723		7	662	0	0	0	1	0	7	662					A	11461642	G	A	11461642	3	1	122	1	0	0	0	0	1	0	0	0	12445	1232	43	3	472	3	PRB4	12	11461642	Missense_Mutation	SNP	G	TCGA-EJ-A65G-01A-21D-A29Q-08		11461642	122390253	23	6450											
KCTD10	83892	broad.mit.edu	37	chr12	109894046	109894046	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	ataacatcctttatgaacagGacccttccgttaaagcgcag	13	10	7	11	2	0	1	0	1	0	0	2	2	2	2	3	1	3	2	3	1	5	5			TCGA-EJ-A65G-01A-21D-A29Q-08	TCGA-EJ-A65G-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bdb0244b-1099-46e0-857e-35d6ae983c53	23c04493-58ff-4af4-a2df-9dbdd52d4e48	g.chr12:109894046G>C	ENST00000228495.6	-	6	881	c.600C>G	c.(598-600)gtC>gtG	p.V200V	KCTD10_ENST00000540411.1_Silent_p.V174V|KCTD10_ENST00000538161.1_5'UTR|KCTD10_ENST00000540089.1_Silent_p.V19V|KCTD10_ENST00000424763.2_Silent_p.V19V	NM_031954.3	NP_114160.1	Q9H3F6	BACD3_HUMAN	potassium channel tetramerization domain containing 10	200					proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein homooligomerization (GO:0051260)|protein ubiquitination (GO:0016567)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|TCTN-B9D complex (GO:0036038)				endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)	10						TTATGAACAGGACCCTTCCGT	0.438																																						ENST00000228495.6																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)	10						c.(598-600)gtC>gtG		potassium channel tetramerization domain containing 10							158	143	148					12																	109894046		2203	4300	6503	SO:0001819	synonymous_variant	83892				proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination	Cul3-RING ubiquitin ligase complex|cytoplasm|nucleus|voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr12:109894046G>C	BC040062	CCDS9128.1	12q24.12	2013-06-20	2013-06-20		ENSG00000110906	ENSG00000110906		"BTB/POZ domain containing"	23236	protein-coding gene	gene with protein product		613421	"potassium channel tetramerisation domain containing 10"			12477932	Standard	XM_005253946		Approved	MSTP028, BTBD28	uc001toi.1	Q9H3F6	OTTHUMG00000169253	ENST00000228495.6:c.600C>G	12.37:g.109894046G>C						KCTD10_ENST00000538161.1_5'UTR|KCTD10_ENST00000540411.1_Silent_p.V174V|KCTD10_ENST00000424763.2_Silent_p.V19V|KCTD10_ENST00000540089.1_Silent_p.V19V	p.V200V	NM_031954.3	NP_114160.1	Q9H3F6	BACD3_HUMAN			6	881	-			200					Q53HN2|Q59FV1|Q6PL47|Q96SU0	Silent	SNP	ENST00000228495.6	37	c.600C>G	CCDS9128.1	.	.	.	.	.	.	.	.	.	.	G	9.161	1.018801	0.19355	.	.	ENSG00000110906	ENST00000538161	.	.	.	4.65	3.75	0.43078	.	.	.	.	.	T	0.69052	0.3068	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.68693	-0.5341	4	.	.	.	-30.2303	13.7571	0.62943	0.0:0.3124:0.6876:0.0	.	.	.	.	C	166	.	.	S	-	2	0	KCTD10	108378429	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	0.680000	0.25306	1.292000	0.44672	0.561000	0.74099	TCC		0.438	KCTD10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403099.1	NM_031954		12	86	0	0	0	1	0	12	86					C	109894046	G	C	109894046	2	2	122	1	0	0	0	0	0	0	0	1	8097	1161	41	5		5	KCTD10	12	109894046	Silent	SNP	G	TCGA-EJ-A65G-01A-21D-A29Q-08	98432404	109894046	23957849	24	6451											
NOS1	4842	broad.mit.edu	37	chr12	117768561	117768561	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taaaggtggtctccaggtgcGtggtgaaaccttcagggccc	8	9	14	10	1	2	1	1	1	1	0	3	1	2	1	3	5	2	0	3	5	3	2	rs76839820		TCGA-EJ-A65G-01A-21D-A29Q-08	TCGA-EJ-A65G-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bdb0244b-1099-46e0-857e-35d6ae983c53	23c04493-58ff-4af4-a2df-9dbdd52d4e48	g.chr12:117768561G>A	ENST00000338101.4	-	1	318	c.314C>T	c.(313-315)aCg>aTg	p.T105M	NOS1_ENST00000344089.3_Missense_Mutation_p.T105M|NOS1_ENST00000549189.1_5'Flank|NOS1_ENST00000317775.6_Missense_Mutation_p.T105M			Q8WY41	NANO1_HUMAN	nitric oxide synthase 1 (neuronal)	0					cell migration (GO:0016477)|epithelial cell migration (GO:0010631)|negative regulation of translation (GO:0017148)	cytoplasm (GO:0005737)|perinuclear region of cytoplasm (GO:0048471)	RNA binding (GO:0003723)|translation repressor activity (GO:0030371)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)		CTCCAGGTGCGTGGTGAAACC	0.612																																					Esophageal Squamous(162;1748 2599 51982 52956)	ENST00000317775.6																			0				NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						c.(313-315)aCg>aTg		nitric oxide synthase 1 (neuronal)	L-Citrulline(DB00155)						39	44	42					12																	117768561		1971	4127	6098	SO:0001583	missense	4842				multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding	g.chr12:117768561G>A		CCDS41842.1, CCDS55890.1	12q24.22	2013-09-19			ENSG00000089250	ENSG00000089250	1.14.13.39		7872	protein-coding gene	gene with protein product		163731		NOS		1385308, 7682706	Standard	NM_001204213		Approved	nNOS	uc001twn.2	P29475	OTTHUMG00000137376	ENST00000338101.4:c.314C>T	12.37:g.117768561G>A	ENSP00000337459:p.Thr105Met					NOS1_ENST00000338101.4_Missense_Mutation_p.T105M|NOS1_ENST00000344089.3_Missense_Mutation_p.T105M	p.T105M	NM_000620.4|NM_001204218.1	NP_000611.1|NP_001191147.1	P29475	NOS1_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.0561)	2	999	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		105			Interaction with NOSIP (By similarity).			Missense_Mutation	SNP	ENST00000338101.4	37	c.314C>T	CCDS55890.1	.	.	.	.	.	.	.	.	.	.	G	18.43	3.621920	0.66787	.	.	ENSG00000089250	ENST00000397605;ENST00000317775;ENST00000541241;ENST00000344089;ENST00000338101	T;T;T	0.06528	4.91;3.29;4.89	4.91	4.02	0.46733	PDZ/DHR/GLGF (1);	0.047332	0.85682	N	0.000000	T	0.23926	0.0579	M	0.73962	2.25	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.01283	-1.1396	10	0.87932	D	0	-12.1159	13.2987	0.60313	0.076:0.0:0.924:0.0	.	105	P29475	NOS1_HUMAN	M	105	ENSP00000320758:T105M;ENSP00000339862:T105M;ENSP00000337459:T105M	ENSP00000320758:T105M	T	-	2	0	NOS1	116252944	1.000000	0.71417	0.892000	0.35008	0.572000	0.35998	9.232000	0.95325	1.301000	0.44836	0.555000	0.69702	ACG		0.612	NOS1-002	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000268053.1			5	100	0	0	0	1	0	5	100					A	117768561	G	A	117768561	3	1	122	1	0	0	0	0	1	0	0	0	10541	1145	40	1	4102	1	NOS1	12	117768561	Missense_Mutation	SNP	G	TCGA-EJ-A65G-01A-21D-A29Q-08	7874515	117768561	16083334	25	6452											
PAN3	255967	broad.mit.edu	37	chr13	28794430	28794430	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcaacctccaggctgagtaaCgtgtcccagtcaaatatgtc	11	10	8	12	1	2	1	2	1	0	0	5	1	4	1	3	1	2	2	3	1	4	2			TCGA-EJ-A65G-01A-21D-A29Q-08	TCGA-EJ-A65G-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bdb0244b-1099-46e0-857e-35d6ae983c53	23c04493-58ff-4af4-a2df-9dbdd52d4e48	g.chr13:28794430C>T	ENST00000380958.3	+	6	1067	c.915C>T	c.(913-915)aaC>aaT	p.N305N	PAN3_ENST00000399613.1_Silent_p.N105N	NM_175854.7	NP_787050.6			PAN3 poly(A) specific ribonuclease subunit											endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)	Colorectal(13;0.000334)	all cancers(112;0.0102)|Epithelial(112;0.0803)|GBM - Glioblastoma multiforme(144;0.121)|OV - Ovarian serous cystadenocarcinoma(117;0.13)|Lung(94;0.174)		GGCTGAGTAACGTGTCCCAGT	0.423																																						ENST00000399613.1																			0				endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24						c.(313-315)aaC>aaT		PAN3 poly(A) specific ribonuclease subunit homolog (S. cerevisiae)							200	192	195					13																	28794430		2203	4300	6503	SO:0001819	synonymous_variant	255967				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening	centrosome|cytosol	ATP binding|protein kinase activity	g.chr13:28794430C>T	AK091307	CCDS9329.1, CCDS9329.2	13q12.2	2014-03-27	2014-03-27		ENSG00000152520	ENSG00000152520			29991	protein-coding gene	gene with protein product			"PAN3 poly(A) specific ribonuclease subunit homolog (S. cerevisiae)"			14583602	Standard	NM_175854		Approved		uc001urz.3	Q58A45	OTTHUMG00000016645	ENST00000380958.3:c.915C>T	13.37:g.28794430C>T						PAN3_ENST00000380958.3_Silent_p.N305N	p.N105N			Q58A45	PAN3_HUMAN	Colorectal(13;0.000334)	all cancers(112;0.0102)|Epithelial(112;0.0803)|GBM - Glioblastoma multiforme(144;0.121)|OV - Ovarian serous cystadenocarcinoma(117;0.13)|Lung(94;0.174)	5	378	+	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)	305			Interaction with polyadenylate-binding protein.			Silent	SNP	ENST00000380958.3	37	c.315C>T	CCDS9329.2																																																																																				0.423	PAN3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000044318.4	NM_175854		49	176	0	0	0	1	0	49	176					T	28794430	C	T	28794430	2	4	122	1	0	0	0	0	0	0	0	1	11415	535	19	1		1	PAN3	13	28794430	Silent	SNP	C	TCGA-EJ-A65G-01A-21D-A29Q-08		28794430	86375448	26	6453											
ZSCAN10	84891	broad.mit.edu	37	chr16	3140420	3140420	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	caactccggattgggctcggGgacgccctcagccactttga	7	8	12	14	3	1	1	1	1	0	0	3	3	2	3	3	4	2	1	3	4	1	2			TCGA-EJ-A65G-01A-21D-A29Q-08	TCGA-EJ-A65G-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bdb0244b-1099-46e0-857e-35d6ae983c53	23c04493-58ff-4af4-a2df-9dbdd52d4e48	g.chr16:3140420G>A	ENST00000252463.2	-	5	937	c.850C>T	c.(850-852)Ccc>Tcc	p.P284S	ZSCAN10_ENST00000575108.1_5'UTR|ZSCAN10_ENST00000538082.2_Missense_Mutation_p.P202S	NM_032805.1	NP_116194.1	Q96SZ4	ZSC10_HUMAN	zinc finger and SCAN domain containing 10	284					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|cervix(3)|endometrium(3)|kidney(1)|lung(8)|ovary(2)|prostate(1)|skin(4)|urinary_tract(1)	24						TTGGGCTCGGGGACGCCCTCA	0.662																																						ENST00000252463.2																			0				breast(1)|cervix(3)|endometrium(3)|kidney(1)|lung(8)|ovary(2)|prostate(1)|skin(4)|urinary_tract(1)	24						c.(850-852)Ccc>Tcc		zinc finger and SCAN domain containing 10							68	71	70					16																	3140420		2181	4273	6454	SO:0001583	missense	84891				negative regulation of transcription, DNA-dependent|viral reproduction	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr16:3140420G>A	AA206569	CCDS10493.1, CCDS61813.1, CCDS61814.1	16p13.3	2013-01-08	2007-02-20	2007-02-20		ENSG00000130182		"-", "Zinc fingers, C2H2-type"	12997	protein-coding gene	gene with protein product			"zinc finger protein 206"	ZNF206		9653642	Standard	NM_032805		Approved		uc002ctv.1	Q96SZ4		ENST00000252463.2:c.850C>T	16.37:g.3140420G>A	ENSP00000252463:p.Pro284Ser					ZSCAN10_ENST00000575108.1_5'UTR|ZSCAN10_ENST00000538082.2_Missense_Mutation_p.P202S	p.P284S	NM_032805.1	NP_116194.1	Q96SZ4	ZSC10_HUMAN			5	937	-			284					B3KQD3|H0YFS6|Q1WWM2	Missense_Mutation	SNP	ENST00000252463.2	37	c.850C>T	CCDS10493.1	.	.	.	.	.	.	.	.	.	.	G	9.003	0.980565	0.18812	.	.	ENSG00000130182	ENST00000538082;ENST00000252463	T	0.05786	3.39	4.42	-4.89	0.03103	.	1.415250	0.04617	N	0.401312	T	0.02970	0.0088	N	0.08118	0	0.09310	N	0.999998	B;B	0.06786	0.001;0.001	B;B	0.04013	0.001;0.001	T	0.44528	-0.9322	10	0.23302	T	0.38	-1.2691	5.5691	0.17187	0.3555:0.4048:0.2397:0.0	.	217;284	Q1WWM2;Q96SZ4	.;ZSC10_HUMAN	S	217;284	ENSP00000252463:P284S	ENSP00000252463:P284S	P	-	1	0	ZSCAN10	3080421	0.000000	0.05858	0.000000	0.03702	0.131000	0.20780	-1.407000	0.02488	-1.091000	0.03065	0.462000	0.41574	CCC		0.662	ZSCAN10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437124.2	NM_032805		6	237	0	0	0	1	0	6	237					A	3140420	G	A	3140420	3	1	122	1	0	0	0	0	1	0	0	0	18224	1232	43	3	1331	3	ZSCAN10	16	3140420	Missense_Mutation	SNP	G	TCGA-EJ-A65G-01A-21D-A29Q-08		3140420	87214333	27	6454											
C17orf68	80169	broad.mit.edu	37	chr17	8141481	8141481	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agtgcccttcccctgaggaaTtccacctggcaggagggagg	8	7	14	12	0	0	1	0	1	0	0	2	4	2	4	5	5	1	1	5	5	1	2			TCGA-EJ-A65G-01A-21D-A29Q-08	TCGA-EJ-A65G-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bdb0244b-1099-46e0-857e-35d6ae983c53	23c04493-58ff-4af4-a2df-9dbdd52d4e48	g.chr17:8141481T>C	ENST00000315684.8	-	4	522	c.515A>G	c.(514-516)aAt>aGt	p.N172S	CTC1_ENST00000581671.1_5'UTR	NM_025099.5	NP_079375.3	Q2NKJ3	CTC1_HUMAN	CTS telomere maintenance complex component 1	172					bone marrow development (GO:0048539)|cellular response to DNA damage stimulus (GO:0006974)|hematopoietic stem cell proliferation (GO:0071425)|multicellular organism growth (GO:0035264)|positive regulation of DNA replication (GO:0045740)|positive regulation of fibroblast proliferation (GO:0048146)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|replicative senescence (GO:0090399)|spleen development (GO:0048536)|telomere maintenance (GO:0000723)|telomere maintenance via telomere lengthening (GO:0010833)|thymus development (GO:0048538)	nuclear chromosome, telomeric region (GO:0000784)|nucleus (GO:0005634)|Stn1-Ten1 complex (GO:0070188)	single-stranded DNA binding (GO:0003697)			NS(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(8)|ovary(1)|skin(4)	29						CCCTGAGGAATTCCACCTGGC	0.557																																						ENST00000315684.8																			0				NS(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(8)|ovary(1)|skin(4)	29						c.(514-516)aAt>aGt		CTS telomere maintenance complex component 1							70	77	75					17																	8141481		1957	4159	6116	SO:0001583	missense	80169				positive regulation of DNA replication|telomere maintenance	Stn1-Ten1 complex	protein binding|single-stranded DNA binding	g.chr17:8141481T>C	AL831955	CCDS42259.1	17p13.1	2011-02-21	2011-02-21	2011-02-21	ENSG00000178971	ENSG00000178971			26169	protein-coding gene	gene with protein product	"conserved telomere maintenance component 1", "alpha accessory factor 132", "conserved telomere capping protein 1"	613129	"tmp494178", "chromosome 17 open reading frame 68"	C17orf68		19854130, 19854131	Standard	NM_025099		Approved	FLJ22170, AAF132	uc002gkq.4	Q2NKJ3		ENST00000315684.8:c.515A>G	17.37:g.8141481T>C	ENSP00000313759:p.Asn172Ser					CTC1_ENST00000581671.1_5'UTR	p.N172S	NM_025099.5	NP_079375.3	Q2NKJ3	CTC1_HUMAN			4	522	-			172					B3KR66|C9JEX5|Q1PCD1|Q2TBE3|Q8N3S6|Q9H6L0	Missense_Mutation	SNP	ENST00000315684.8	37	c.515A>G	CCDS42259.1	.	.	.	.	.	.	.	.	.	.	T	11.05	1.525262	0.27299	.	.	ENSG00000178971	ENST00000315684;ENST00000449476	D;D	0.82893	-1.66;-1.66	5.51	1.74	0.24563	.	0.610508	0.17394	N	0.175836	T	0.65954	0.2741	N	0.13043	0.29	0.09310	N	1	B	0.11235	0.004	B	0.10450	0.005	T	0.52682	-0.8543	10	0.32370	T	0.25	-1.3407	7.0049	0.24830	0.0:0.3265:0.0:0.6735	.	172	Q2NKJ3	CTC1_HUMAN	S	172	ENSP00000313759:N172S;ENSP00000396018:N172S	ENSP00000313759:N172S	N	-	2	0	CTC1	8082206	0.000000	0.05858	0.445000	0.26908	0.193000	0.23685	0.313000	0.19415	0.421000	0.25980	0.459000	0.35465	AAT		0.557	CTC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000442012.1	NM_025099		22	75	0	0	0	1	0	22	75					C	8141481	T	C	8141481	3	2	122	1	0	0	0	0	1	0	0	0	1876	1493	52	4	3218	4	C17orf68	17	8141481	Missense_Mutation	SNP	T	TCGA-EJ-A65G-01A-21D-A29Q-08		8141481	73053729	28	6455											
DCAF8L1	139425	broad.mit.edu	37	chrX	27997690	27997690	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcgatcttggccctcctcctCggatgtatctgaggtgctgg	4	13	12	12	2	2	1	0	1	2	0	6	3	4	2	3	4	1	2	3	4	1	2			TCGA-EJ-A65G-01A-21D-A29Q-08	TCGA-EJ-A65G-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bdb0244b-1099-46e0-857e-35d6ae983c53	23c04493-58ff-4af4-a2df-9dbdd52d4e48	g.chrX:27997690C>T	ENST00000441525.1	-	1	1876	c.1762G>A	c.(1762-1764)Gag>Aag	p.E588K		NM_001017930.1	NP_001017930.1	A6NGE4	DC8L1_HUMAN	DDB1 and CUL4 associated factor 8-like 1	588								p.E588K(1)		NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(24)|ovary(3)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	56						CCCTCCTCCTCGGATGTATCT	0.502																																						ENST00000441525.1																			1	Substitution - Missense(1)	p.E588K(1)	kidney(1)	NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(24)|ovary(3)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	56						c.(1762-1764)Gag>Aag		DDB1 and CUL4 associated factor 8-like 1							111	85	94					X																	27997690		2202	4300	6502	SO:0001583	missense	139425							g.chrX:27997690C>T		CCDS35222.1	Xp22.11	2013-01-09	2009-07-17	2009-07-17	ENSG00000226372	ENSG00000226372		"WD repeat domain containing"	31810	protein-coding gene	gene with protein product			"WD repeat domain 42B"	WDR42B			Standard	NM_001017930		Approved		uc004dbx.1	A6NGE4	OTTHUMG00000021312	ENST00000441525.1:c.1762G>A	X.37:g.27997690C>T	ENSP00000405222:p.Glu588Lys						p.E588K	NM_001017930.1	NP_001017930.1	A6NGE4	DC8L1_HUMAN			1	1876	-			588					B3KXX1	Missense_Mutation	SNP	ENST00000441525.1	37	c.1762G>A	CCDS35222.1	.	.	.	.	.	.	.	.	.	.	C	12.55	1.971566	0.34754	.	.	ENSG00000226372	ENST00000441525	T	0.65364	-0.15	0.842	0.842	0.18927	.	0.374885	0.22253	N	0.062525	T	0.52158	0.1717	M	0.74881	2.28	0.21933	N	0.999461	D	0.54601	0.967	B	0.39027	0.288	T	0.48636	-0.9018	10	0.24483	T	0.36	.	7.2758	0.26283	0.0:0.9999:0.0:1.0E-4	.	588	A6NGE4	DC8L1_HUMAN	K	588	ENSP00000405222:E588K	ENSP00000405222:E588K	E	-	1	0	DCAF8L1	27907611	0.910000	0.30920	0.066000	0.19879	0.075000	0.17131	0.894000	0.28350	0.691000	0.31592	0.284000	0.19432	GAG		0.502	DCAF8L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056150.2	XM_066690		4	48	0	0	0	1	0	4	48					T	27997690	C	T	27997690	3	4	122	1	0	0	0	0	1	0	0	0	4277	893	31	2	44	2	DCAF8L1	23	27997690	Missense_Mutation	SNP	C	TCGA-EJ-A65G-01A-21D-A29Q-08		27997690	127272870	29	6456											
KDM6A	7403	broad.mit.edu	37	chrX	44923045	44923048	+	Frame_Shift_Del	DEL	CTAT	CTAT	-																															aggagccgtggaaaaaccaaCtatctaactccactcaggta																								rs398122969		TCGA-EJ-A65G-01A-21D-A29Q-08	TCGA-EJ-A65G-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bdb0244b-1099-46e0-857e-35d6ae983c53	23c04493-58ff-4af4-a2df-9dbdd52d4e48	g.chrX:44923045_44923048delCTAT	ENST00000377967.4	+	16	1947_1950	c.1906_1909delCTAT	c.(1906-1911)ctatctfs	p.LS636fs	KDM6A_ENST00000543216.1_Frame_Shift_Del_p.LS557fs|KDM6A_ENST00000382899.4_Frame_Shift_Del_p.LS643fs|KDM6A_ENST00000536777.1_Frame_Shift_Del_p.LS591fs	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN	lysine (K)-specific demethylase 6A	636	Interaction with SUPT6H. {ECO:0000250}.				canonical Wnt signaling pathway (GO:0060070)|heart morphogenesis (GO:0003007)|histone H3-K4 methylation (GO:0051568)|in utero embryonic development (GO:0001701)|mesodermal cell differentiation (GO:0048333)|multicellular organism growth (GO:0035264)|neural tube closure (GO:0001843)|notochord morphogenesis (GO:0048570)|regulation of gene expression (GO:0010468)|respiratory system process (GO:0003016)|somite rostral/caudal axis specification (GO:0032525)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|histone demethylase activity (H3-K27 specific) (GO:0071558)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)	p.0?(6)|p.0(2)		NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						GAAAAACCAACTATCTAACTCCAC	0.446			"D, N, F, S"		"renal, oesophageal SCC, MM"																																Colon(129;1273 1667 15230 27352 52914)	ENST00000377967.4				Rec	yes		X	Xp11.2	7403	"D, N, F, S"	"lysine (K)-specific demethylase 6A, UTX"			"E, L"			"renal, oesophageal SCC, MM"		8	Whole gene deletion(6)|No detectable mRNA/protein(2)	p.0?(6)|p.0(2)	haematopoietic_and_lymphoid_tissue(2)|oesophagus(2)|breast(2)|pancreas(2)	NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						c.(1906-1911)ctfs		lysine (K)-specific demethylase 6A																																				SO:0001589	frameshift_variant	7403				histone H3-K4 methylation		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chrX:44923045_44923048delCTAT	AF000992	CCDS14265.1	Xp11.2	2014-09-17	2009-04-17	2009-04-17	ENSG00000147050	ENSG00000147050		"Chromatin-modifying enzymes / K-demethylases", "Tetratricopeptide (TTC) repeat domain containing"	12637	protein-coding gene	gene with protein product		300128	"ubiquitously transcribed tetratricopeptide repeat, X chromosome"	UTX		9499428, 9381176	Standard	XM_005272655		Approved		uc004dge.4	O15550	OTTHUMG00000021402	ENST00000377967.4:c.1906_1909delCTAT	X.37:g.44923045_44923048delCTAT	ENSP00000367203:p.Leu636fs					KDM6A_ENST00000382899.4_Frame_Shift_Del_p.LS643fs|KDM6A_ENST00000536777.1_Frame_Shift_Del_p.LS591fs|KDM6A_ENST00000543216.1_Frame_Shift_Del_p.LS557fs	p.LS636fs	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN			16	1947_1950	+			636					Q52LL9|Q5JVQ7	Frame_Shift_Del	DEL	ENST00000377967.4	37	c.1906_1909delCTAT	CCDS14265.1																																																																																				0.446	KDM6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056324.1	NM_021140		6	4						6	4	---	---	---	---	-	44923048	CTAT	-	44923045	7	5	122	1	0	1	0	1	0	0	0	0	8137	564	20	0	1968	0	KDM6A	23	44923045	Frame_Shift_Del	DEL	CTAT	TCGA-EJ-A65G-01A-21D-A29Q-08	16925355	44923045	110347515	30	6457											
CT47B1	643311	broad.mit.edu	37	chrX	120008936	120008936	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgggaccgacgcggcctcctGgaccgacgcagcctcctgga	6	5	14	16	5	0	0	0	0	0	0	2	5	2	3	6	4	1	1	6	4	0	0			TCGA-EJ-A65G-01A-21D-A29Q-08	TCGA-EJ-A65G-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bdb0244b-1099-46e0-857e-35d6ae983c53	23c04493-58ff-4af4-a2df-9dbdd52d4e48	g.chrX:120008936G>A	ENST00000371311.3	-	1	843	c.589C>T	c.(589-591)Cag>Tag	p.Q197*		NM_001145718.1	NP_001139190.1	P0C2W7	CT47B_HUMAN	cancer/testis antigen family 47, member B1	197										breast(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|lung(9)|ovary(1)|skin(1)	22						GCGGCCTCCTGGACCGACGCA	0.706																																						ENST00000371311.3																			0				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|lung(9)|ovary(1)|skin(1)	22						c.(589-591)Cag>Tag		cancer/testis antigen family 47, member B1							27	27	27					X																	120008936		692	1589	2281	SO:0001587	stop_gained	643311							g.chrX:120008936G>A		CCDS48161.1	Xq24	2014-05-06	2011-03-24		ENSG00000236446	ENSG00000236446			33293	protein-coding gene	gene with protein product	"cancer/testis CT47 family, member 13"	300790				16382448	Standard	NM_001145718		Approved	CT47.13	uc011muc.2	P0C2W7	OTTHUMG00000187483	ENST00000371311.3:c.589C>T	X.37:g.120008936G>A	ENSP00000360360:p.Gln197*						p.Q197*	NM_001145718.1	NP_001139190.1	P0C2W7	CT47B_HUMAN			1	843	-			197					A6NM97	Nonsense_Mutation	SNP	ENST00000371311.3	37	c.589C>T	CCDS48161.1	.	.	.	.	.	.	.	.	.	.	G	19.15	3.772063	0.69992	.	.	ENSG00000236446	ENST00000371311	.	.	.	1.76	-0.299	0.12808	.	.	.	.	.	.	.	.	.	.	.	0.49798	A	0.99982	.	.	.	.	.	.	.	.	.	.	0.25751	T	0.34	.	3.266	0.06865	0.237:0.3792:0.3838:0.0	.	.	.	.	X	197	.	ENSP00000360360:Q197X	Q	-	1	0	CT47B1	119892964	0.000000	0.05858	0.000000	0.03702	0.088000	0.18126	0.113000	0.15499	-0.177000	0.10690	0.171000	0.16805	CAG		0.706	CT47B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058121.1	NM_001145718		5	85	0	0	0	1	0	5	85					A	120008936	G	A	120008936	4	1	122	1	0	0	0	0	0	1	0	0	3989	1357	47	3	318	3	CT47B1	23	120008936	Nonsense_Mutation	SNP	G	TCGA-EJ-A65G-01A-21D-A29Q-08	75085891	120008936	35261624	31	6458											
GPC3	2719	broad.mit.edu	37	chrX	132887602	132887602	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agtacgttctccatgtcataGattctgtacatgccattcac	10	14	6	11	1	4	1	2	0	2	1	5	1	4	1	2	0	3	3	2	0	3	6			TCGA-EJ-A65G-01A-21D-A29Q-08	TCGA-EJ-A65G-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bdb0244b-1099-46e0-857e-35d6ae983c53	23c04493-58ff-4af4-a2df-9dbdd52d4e48	g.chrX:132887602G>C	ENST00000370818.3	-	3	1384	c.939C>G	c.(937-939)atC>atG	p.I313M	GPC3_ENST00000543339.1_Missense_Mutation_p.I259M|GPC3_ENST00000394299.2_Missense_Mutation_p.I313M	NM_001164618.1|NM_004484.3	NP_001158090.1|NP_004475.1	P51654	GPC3_HUMAN	glypican 3	313					anatomical structure morphogenesis (GO:0009653)|anterior/posterior axis specification (GO:0009948)|body morphogenesis (GO:0010171)|bone mineralization (GO:0030282)|branching involved in ureteric bud morphogenesis (GO:0001658)|carbohydrate metabolic process (GO:0005975)|cell proliferation involved in metanephros development (GO:0072203)|chondroitin sulfate metabolic process (GO:0030204)|coronary vasculature development (GO:0060976)|embryonic hindlimb morphogenesis (GO:0035116)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|lung development (GO:0030324)|mesenchymal cell proliferation involved in ureteric bud development (GO:0072138)|mesonephric duct morphogenesis (GO:0072180)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of growth (GO:0045926)|negative regulation of smoothened signaling pathway (GO:0045879)|osteoclast differentiation (GO:0030316)|phototransduction, visible light (GO:0007603)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of endocytosis (GO:0045807)|positive regulation of glucose import (GO:0046326)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	anchored component of plasma membrane (GO:0046658)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	peptidyl-dipeptidase inhibitor activity (GO:0060422)			breast(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|prostate(1)|skin(2)	36	Acute lymphoblastic leukemia(192;0.000127)					CCATGTCATAGATTCTGTACA	0.443			"T, D, Mis, N, F, S"			Wilms tumour			Simpson-Golabi-Behmel syndrome																													ENST00000370818.3			yes	Rec/X		Simpson-Golabi-Behmel syndrome	X	Xq26.1	2719	"T, D, Mis, N, F, S"	glypican 3			O		Wilms tumour			0				breast(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|prostate(1)|skin(2)	36						c.(937-939)atC>atG		glypican 3							560	360	427					X																	132887602		2203	4300	6503	SO:0001583	missense	2719	Simpson-Golabi-Behmel syndrome	Familial Cancer Database	SGBS		extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding|peptidyl-dipeptidase inhibitor activity	g.chrX:132887602G>C	L47125	CCDS14638.1, CCDS55496.1	Xq26	2014-09-17			ENSG00000147257	ENSG00000147257		"Proteoglycans / Cell Surface : Glypicans"	4451	protein-coding gene	gene with protein product	"glypican proteoglycan 3"	300037		SDYS		8589713, 9787072	Standard	NM_004484		Approved	OCI-5, SGBS, SGBS1, SGB, DGSX	uc010nrn.2	P51654	OTTHUMG00000022448	ENST00000370818.3:c.939C>G	X.37:g.132887602G>C	ENSP00000359854:p.Ile313Met					GPC3_ENST00000394299.2_Missense_Mutation_p.I313M|GPC3_ENST00000543339.1_Missense_Mutation_p.I259M	p.I313M	NM_001164618.1|NM_004484.3	NP_001158090.1|NP_004475.1	P51654	GPC3_HUMAN			3	1384	-	Acute lymphoblastic leukemia(192;0.000127)		313					C9JLE3|G3V1R0|Q2L880|Q2L882	Missense_Mutation	SNP	ENST00000370818.3	37	c.939C>G	CCDS14638.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	5.265|5.265	0.234298|0.234298	0.09969|0.09969	.|.	.|.	ENSG00000147257|ENSG00000147257	ENST00000370818;ENST00000394299;ENST00000543339|ENST00000406757	T;T;T|.	0.49720|.	0.77;0.77;0.77|.	5.7|5.7	2.77|2.77	0.32553|0.32553	.|.	0.240320|.	0.43747|.	D|.	0.000531|.	T|T	0.24890|0.24890	0.0604|0.0604	N|N	0.24115|0.24115	0.695|0.695	0.27223|0.27223	N|N	0.959615|0.959615	B;B;B;B|.	0.23128|.	0.08;0.065;0.002;0.08|.	B;B;B;B|.	0.29663|.	0.105;0.064;0.01;0.105|.	T|T	0.17501|0.17501	-1.0367|-1.0367	10|5	0.40728|.	T|.	0.16|.	.|.	7.0642|7.0642	0.25143|0.25143	0.1562:0.0:0.7052:0.1386|0.1562:0.0:0.7052:0.1386	.|.	297;259;313;313|.	B4DTD8;G3V1R0;C9JLE3;P51654|.	.;.;.;GPC3_HUMAN|.	M|C	313;313;259|43	ENSP00000359854:I313M;ENSP00000377836:I313M;ENSP00000444222:I259M|.	ENSP00000359854:I313M|.	I|S	-|-	3|2	3|0	GPC3|GPC3	132715268|132715268	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.971000|0.971000	0.66376|0.66376	0.683000|0.683000	0.25349|0.25349	1.172000|1.172000	0.42781|0.42781	0.594000|0.594000	0.82650|0.82650	ATC|TCT		0.443	GPC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058356.1	NM_004484		4	97	0	0	0	1	0	4	97					C	132887602	G	C	132887602	3	2	122	1	0	0	0	0	1	0	0	0	6599	932	33	5	900	5	GPC3	23	132887602	Missense_Mutation	SNP	G	TCGA-EJ-A65G-01A-21D-A29Q-08	12878666	132887602	22382958	32	6459											
TNNI3K	100526835	broad.mit.edu	37	chr1	74905217	74905217	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggtgttcacgcagtgcactcGgtacaccatcaaagcagatg	11	8	11	11	2	2	1	2	0	0	1	3	1	2	1	1	2	3	5	1	2	2	2	rs200171980		TCGA-EJ-A65J-01A-11D-A30X-08	TCGA-EJ-A65J-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644108d8-dcc6-4d2d-85c0-ba6ac153cc9b	6773ad95-6d11-4f51-8b2b-5cc5ef4057ea	g.chr1:74905217G>T	ENST00000370899.3	+	22	2262	c.2225G>T	c.(2224-2226)cGg>cTg	p.R742L	FPGT-TNNI3K_ENST00000557284.2_Missense_Mutation_p.R755L|TNNI3K_ENST00000326637.3_Missense_Mutation_p.R641L|TNNI3K_ENST00000370891.2_Missense_Mutation_p.R742L	NM_001199327.1	NP_001186256			FPGT-TNNI3K readthrough																		CAGTGCACTCGGTACACCATC	0.488																																						ENST00000370891.2																			0				cervix(1)|endometrium(3)|kidney(5)|large_intestine(21)|lung(31)|ovary(4)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	76						c.(2224-2226)cGg>cTg		TNNI3 interacting kinase							165	136	146					1																	74905217		2203	4300	6503	SO:0001583	missense	51086							g.chr1:74905217G>T			1p31.3	2014-03-14			ENSG00000259030	ENSG00000259030			42952	other	readthrough							Standard	NM_001112808		Approved		uc001dge.2		OTTHUMG00000166281	ENST00000370899.3:c.2225G>T	1.37:g.74905217G>T	ENSP00000359936:p.Arg742Leu					TNNI3K_ENST00000326637.3_Missense_Mutation_p.R641L|FPGT-TNNI3K_ENST00000370899.3_Missense_Mutation_p.R742L|FPGT-TNNI3K_ENST00000557284.1_Missense_Mutation_p.R742L	p.R742L	NM_001112808.2	NP_001106279.1					22	2241	+									Missense_Mutation	SNP	ENST00000370899.3	37	c.2225G>T		.	.	.	.	.	.	.	.	.	.	G	21.4	4.137117	0.77775	.	.	ENSG00000259030;ENSG00000259030;ENSG00000116783;ENSG00000116783;ENSG00000116783	ENST00000370899;ENST00000557284;ENST00000370891;ENST00000326637;ENST00000534020	T;T;T;T;D	0.83837	1.39;1.39;1.39;1.39;-1.77	5.74	4.83	0.62350	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.73009	0.3532	N	0.25094	0.71	0.38240	D	0.941301	D;P;P	0.53619	0.961;0.951;0.897	P;P;P	0.51487	0.671;0.542;0.542	T	0.77547	-0.2547	10	0.49607	T	0.09	.	14.6274	0.68632	0.0697:0.0:0.9303:0.0	.	641;742;742	Q59H18;Q59H18-1;Q59H18-4	TNI3K_HUMAN;.;.	L	742;742;742;641;187	ENSP00000359936:R742L;ENSP00000450895:R742L;ENSP00000359928:R742L;ENSP00000322251:R641L;ENSP00000434975:R187L	ENSP00000322251:R641L	R	+	2	0	RP11-653A5.2;AC093158.1	74677805	1.000000	0.71417	0.080000	0.20451	0.845000	0.48019	7.395000	0.79876	1.436000	0.47453	0.555000	0.69702	CGG		0.488	FPGT-TNNI3K-003	NOVEL	basic|appris_candidate|readthrough_transcript|exp_conf	protein_coding	protein_coding	OTTHUMT00000026438.3			3	57	1	0	0.115264	1	0.115264	3	57					T	74905217	G	T	74905217	3	4	123	1	0	0	0	0	1	0	0	0	16326	1116	39	5	2355	5	TNNI3K	1	74905217	Missense_Mutation	SNP	G	TCGA-EJ-A65J-01A-11D-A30X-08		74905217	174345404	1	6460											
KCNA3	3738	broad.mit.edu	37	chr1	111216224	111216224	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaccccaataaagaggaagAagatgagcaatcccagctcc	16	5	9	11	0	0	5	0	2	0	3	2	6	2	6	4	1	2	2	4	1	6	1			TCGA-EJ-A65J-01A-11D-A30X-08	TCGA-EJ-A65J-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644108d8-dcc6-4d2d-85c0-ba6ac153cc9b	6773ad95-6d11-4f51-8b2b-5cc5ef4057ea	g.chr1:111216224A>C	ENST00000369769.2	-	1	1431	c.1208T>G	c.(1207-1209)tTc>tGc	p.F403C		NM_002232.3	NP_002223.3	P22001	KCNA3_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 3	403					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	membrane raft (GO:0045121)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|outward rectifier potassium channel activity (GO:0015271)|voltage-gated ion channel activity (GO:0005244)	p.F403S(1)		endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(7)|ovary(4)|pancreas(1)|prostate(3)|skin(1)	38		all_cancers(81;3.92e-06)|all_epithelial(167;1.28e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Lung(183;0.0235)|Colorectal(144;0.0306)|all cancers(265;0.0752)|Epithelial(280;0.0821)|COAD - Colon adenocarcinoma(174;0.132)|LUSC - Lung squamous cell carcinoma(189;0.133)	Dalfampridine(DB06637)	AAAGAGGAAGAAGATGAGCAA	0.582																																						ENST00000369769.2																			1	Substitution - Missense(1)	p.F403S(1)	large_intestine(1)	endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(7)|ovary(4)|pancreas(1)|prostate(3)|skin(1)	38						c.(1207-1209)tTc>tGc		potassium voltage-gated channel, shaker-related subfamily, member 3							59	60	60					1																	111216224		2203	4300	6503	SO:0001583	missense	3738					voltage-gated potassium channel complex	delayed rectifier potassium channel activity	g.chr1:111216224A>C	L23499	CCDS828.2	1p13.3	2012-07-05			ENSG00000177272	ENSG00000177272		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6221	protein-coding gene	gene with protein product		176263				2251283, 16382104	Standard	NM_002232		Approved	Kv1.3, MK3, HLK3, HPCN3	uc001dzv.1	P22001	OTTHUMG00000034493	ENST00000369769.2:c.1208T>G	1.37:g.111216224A>C	ENSP00000358784:p.Phe403Cys						p.F403C	NM_002232.3	NP_002223.3	P22001	KCNA3_HUMAN		Lung(183;0.0235)|Colorectal(144;0.0306)|all cancers(265;0.0752)|Epithelial(280;0.0821)|COAD - Colon adenocarcinoma(174;0.132)|LUSC - Lung squamous cell carcinoma(189;0.133)	1	1431	-		all_cancers(81;3.92e-06)|all_epithelial(167;1.28e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)	403					Q5VWN2	Missense_Mutation	SNP	ENST00000369769.2	37	c.1208T>G	CCDS828.2	.	.	.	.	.	.	.	.	.	.	A	17.65	3.442649	0.63067	.	.	ENSG00000177272	ENST00000369769	D	0.98666	-5.06	5.71	5.71	0.89125	Ion transport (1);	0.000000	0.85682	U	0.000000	D	0.99309	0.9758	M	0.92219	3.285	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98951	1.0794	10	0.62326	D	0.03	.	15.9764	0.80066	1.0:0.0:0.0:0.0	.	403	P22001	KCNA3_HUMAN	C	403	ENSP00000358784:F403C	ENSP00000358784:F403C	F	-	2	0	KCNA3	111017747	1.000000	0.71417	0.984000	0.44739	0.945000	0.59286	9.335000	0.96500	2.171000	0.68590	0.533000	0.62120	TTC		0.582	KCNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083391.1	NM_002232		23	35	0	0	0	1	0	23	35					C	111216224	A	C	111216224	3	2	123	1	0	0	0	0	1	0	0	0	8004	246	9	5	523	5	KCNA3	1	111216224	Missense_Mutation	SNP	A	TCGA-EJ-A65J-01A-11D-A30X-08	36311007	111216224	138034397	2	6461											
HIPK1	204851	broad.mit.edu	37	chr1	114483922	114483922	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggccacagccttgatgaagcTcaagagtcttggtctgatcc	9	10	11	11	0	3	4	1	3	2	1	4	4	4	4	3	2	2	1	3	2	2	2			TCGA-EJ-A65J-01A-11D-A30X-08	TCGA-EJ-A65J-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644108d8-dcc6-4d2d-85c0-ba6ac153cc9b	6773ad95-6d11-4f51-8b2b-5cc5ef4057ea	g.chr1:114483922T>G	ENST00000369558.1	+	2	1149	c.917T>G	c.(916-918)cTc>cGc	p.L306R	HIPK1_ENST00000369555.2_Missense_Mutation_p.L306R|HIPK1_ENST00000369561.4_Missense_Mutation_p.L306R|HIPK1_ENST00000426820.2_Missense_Mutation_p.L306R|HIPK1_ENST00000369559.4_Missense_Mutation_p.L306R|HIPK1_ENST00000369554.2_Missense_Mutation_p.L306R			Q86Z02	HIPK1_HUMAN	homeodomain interacting protein kinase 1	306	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				anterior/posterior pattern specification (GO:0009952)|definitive hemopoiesis (GO:0060216)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|endothelial cell apoptotic process (GO:0072577)|extrinsic apoptotic signaling pathway (GO:0097191)|eye development (GO:0001654)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|iris morphogenesis (GO:0061072)|lens induction in camera-type eye (GO:0060235)|neuron differentiation (GO:0030182)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell proliferation (GO:0008284)|regulation of transcription, DNA-templated (GO:0006355)|regulation of tumor necrosis factor-mediated signaling pathway (GO:0010803)|retina layer formation (GO:0010842)|smoothened signaling pathway (GO:0007224)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|PML body (GO:0016605)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|prostate(2)	39	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TTGATGAAGCTCAAGAGTCTT	0.463																																						ENST00000369558.1																			0				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|prostate(2)	39						c.(916-918)cTc>cGc		homeodomain interacting protein kinase 1							95	90	92					1																	114483922		2203	4300	6503	SO:0001583	missense	204851				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr1:114483922T>G	AB089957	CCDS867.1, CCDS868.1, CCDS869.1, CCDS41370.1	1p13.1	2008-02-05			ENSG00000163349	ENSG00000163349			19006	protein-coding gene	gene with protein product		608003					Standard	NM_198268		Approved	KIAA0630, Myak, MGC26642, Nbak2, MGC33446, MGC33548	uc001eem.3	Q86Z02	OTTHUMG00000011983	ENST00000369558.1:c.917T>G	1.37:g.114483922T>G	ENSP00000358571:p.Leu306Arg					HIPK1_ENST00000369561.4_Missense_Mutation_p.L306R|HIPK1_ENST00000369554.2_Missense_Mutation_p.L306R|HIPK1_ENST00000369555.2_Missense_Mutation_p.L306R|HIPK1_ENST00000426820.2_Missense_Mutation_p.L306R|HIPK1_ENST00000369559.4_Missense_Mutation_p.L306R	p.L306R			Q86Z02	HIPK1_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	2	1149	+	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)	306			Protein kinase.		A6NJ34|O75125|Q5SQL2|Q5SQL4|Q5SQL5|Q8IYD7|Q8NDN5|Q8NEB6|Q8TBZ1	Missense_Mutation	SNP	ENST00000369558.1	37	c.917T>G	CCDS867.1	.	.	.	.	.	.	.	.	.	.	T	20.8	4.044516	0.75732	.	.	ENSG00000163349	ENST00000426820;ENST00000369559;ENST00000443627;ENST00000369554;ENST00000369555;ENST00000369558;ENST00000369561	T;T;T;T;T;T;T	0.40476	1.03;1.03;1.03;1.03;1.03;1.03;1.03	5.59	5.59	0.84812	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.56097	D	0.000035	T	0.70185	0.3195	H	0.95679	3.705	0.80722	D	1	D;D	0.69078	0.997;0.997	D;D	0.81914	0.995;0.994	T	0.80939	-0.1158	10	0.87932	D	0	.	15.7631	0.78103	0.0:0.0:0.0:1.0	.	306;306	Q86Z02;Q86Z02-2	HIPK1_HUMAN;.	R	377;306;306;306;306;306;306	ENSP00000407442:L377R;ENSP00000358572:L306R;ENSP00000409673:L306R;ENSP00000358567:L306R;ENSP00000358568:L306R;ENSP00000358571:L306R;ENSP00000358574:L306R	ENSP00000358567:L306R	L	+	2	0	HIPK1	114285445	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.991000	0.88244	2.126000	0.65437	0.377000	0.23210	CTC		0.463	HIPK1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000033127.1	NM_198268		10	66	0	0	0	1	0	10	66					G	114483922	T	G	114483922	3	3	123	1	0	0	0	0	1	0	0	0	7116	1551	54	5	919	5	HIPK1	1	114483922	Missense_Mutation	SNP	T	TCGA-EJ-A65J-01A-11D-A30X-08	3267698	114483922	134766699	3	6462			1	17		2	2	15	N	T_C	2.125523e-05
HIPK1	204851	broad.mit.edu	37	chr1	114483936	114483936	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgaagctcaagagtcttggtCtgatccacgctgaccttaag	10	11	10	10	1	3	4	1	3	2	1	4	4	4	4	2	1	1	2	2	1	3	2			TCGA-EJ-A65J-01A-11D-A30X-08	TCGA-EJ-A65J-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644108d8-dcc6-4d2d-85c0-ba6ac153cc9b	6773ad95-6d11-4f51-8b2b-5cc5ef4057ea	g.chr1:114483936C>G	ENST00000369558.1	+	2	1163	c.931C>G	c.(931-933)Ctg>Gtg	p.L311V	HIPK1_ENST00000369555.2_Missense_Mutation_p.L311V|HIPK1_ENST00000369561.4_Missense_Mutation_p.L311V|HIPK1_ENST00000426820.2_Missense_Mutation_p.L311V|HIPK1_ENST00000369559.4_Missense_Mutation_p.L311V|HIPK1_ENST00000369554.2_Missense_Mutation_p.L311V			Q86Z02	HIPK1_HUMAN	homeodomain interacting protein kinase 1	311	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				anterior/posterior pattern specification (GO:0009952)|definitive hemopoiesis (GO:0060216)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|endothelial cell apoptotic process (GO:0072577)|extrinsic apoptotic signaling pathway (GO:0097191)|eye development (GO:0001654)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|iris morphogenesis (GO:0061072)|lens induction in camera-type eye (GO:0060235)|neuron differentiation (GO:0030182)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell proliferation (GO:0008284)|regulation of transcription, DNA-templated (GO:0006355)|regulation of tumor necrosis factor-mediated signaling pathway (GO:0010803)|retina layer formation (GO:0010842)|smoothened signaling pathway (GO:0007224)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|PML body (GO:0016605)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.L311L(2)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|prostate(2)	39	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GAGTCTTGGTCTGATCCACGC	0.478																																						ENST00000369558.1																			2	Substitution - coding silent(2)	p.L311L(2)	lung(2)	breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|prostate(2)	39						c.(931-933)Ctg>Gtg		homeodomain interacting protein kinase 1							106	99	101					1																	114483936		2203	4300	6503	SO:0001583	missense	204851				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr1:114483936C>G	AB089957	CCDS867.1, CCDS868.1, CCDS869.1, CCDS41370.1	1p13.1	2008-02-05			ENSG00000163349	ENSG00000163349			19006	protein-coding gene	gene with protein product		608003					Standard	NM_198268		Approved	KIAA0630, Myak, MGC26642, Nbak2, MGC33446, MGC33548	uc001eem.3	Q86Z02	OTTHUMG00000011983	ENST00000369558.1:c.931C>G	1.37:g.114483936C>G	ENSP00000358571:p.Leu311Val					HIPK1_ENST00000369561.4_Missense_Mutation_p.L311V|HIPK1_ENST00000369554.2_Missense_Mutation_p.L311V|HIPK1_ENST00000369555.2_Missense_Mutation_p.L311V|HIPK1_ENST00000426820.2_Missense_Mutation_p.L311V|HIPK1_ENST00000369559.4_Missense_Mutation_p.L311V	p.L311V			Q86Z02	HIPK1_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	2	1163	+	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)	311			Protein kinase.		A6NJ34|O75125|Q5SQL2|Q5SQL4|Q5SQL5|Q8IYD7|Q8NDN5|Q8NEB6|Q8TBZ1	Missense_Mutation	SNP	ENST00000369558.1	37	c.931C>G	CCDS867.1	.	.	.	.	.	.	.	.	.	.	C	15.36	2.811122	0.50421	.	.	ENSG00000163349	ENST00000426820;ENST00000369559;ENST00000443627;ENST00000369554;ENST00000369555;ENST00000369558;ENST00000369561	T;T;T;T;T;T;T	0.61274	0.12;0.12;0.12;0.12;0.12;0.12;0.12	5.59	2.13	0.27403	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.51477	D	0.000084	T	0.39545	0.1082	N	0.04636	-0.2	0.80722	D	1	D;D	0.57257	0.979;0.974	D;D	0.71414	0.973;0.969	T	0.53697	-0.8402	10	0.62326	D	0.03	.	11.2472	0.49004	0.0:0.7533:0.0:0.2467	.	311;311	Q86Z02;Q86Z02-2	HIPK1_HUMAN;.	V	382;311;311;311;311;311;311	ENSP00000407442:L382V;ENSP00000358572:L311V;ENSP00000409673:L311V;ENSP00000358567:L311V;ENSP00000358568:L311V;ENSP00000358571:L311V;ENSP00000358574:L311V	ENSP00000358567:L311V	L	+	1	2	HIPK1	114285459	0.985000	0.35326	1.000000	0.80357	0.959000	0.62525	1.299000	0.33424	0.666000	0.31087	0.460000	0.39030	CTG		0.478	HIPK1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000033127.1	NM_198268		11	69	0	0	0	1	0	11	69					G	114483936	C	G	114483936	3	3	123	1	0	0	0	0	1	0	0	0	7116	912	32	5	933	5	HIPK1	1	114483936	Missense_Mutation	SNP	C	TCGA-EJ-A65J-01A-11D-A30X-08	14	114483936	134766685	4	6463			1	17		2	2	15	N	T_C	2.125523e-05
KLHDC9	126823	broad.mit.edu	37	chr1	161068706	161068706	+	Frame_Shift_Del	DEL	C	C	-																															acagggacccctggtgactgCccccccgccggcctcagtag																										TCGA-EJ-A65J-01A-11D-A30X-08	TCGA-EJ-A65J-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644108d8-dcc6-4d2d-85c0-ba6ac153cc9b	6773ad95-6d11-4f51-8b2b-5cc5ef4057ea	g.chr1:161068706delC	ENST00000368011.4	+	1	523	c.381delC	c.(379-381)tgcfs	p.C127fs	PFDN2_ENST00000468311.1_5'Flank|KLHDC9_ENST00000392192.2_Frame_Shift_Del_p.C127fs|KLHDC9_ENST00000490724.2_3'UTR	NM_152366.4	NP_689579.3	Q8NEP7	KLDC9_HUMAN	kelch domain containing 9	127										lung(5)|upper_aerodigestive_tract(1)	6	all_cancers(52;1.28e-19)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00165)			CTGGTGACTGCCCCCCCGCCG	0.687																																						ENST00000392192.2																			0				lung(5)|upper_aerodigestive_tract(1)	6						c.(379-381)tgfs		kelch domain containing 9			,	29,4117		2,25,2046	9	11	10		,	4.7	0.9	1		10	60,8062		1,58,4002	no	frameshift,frameshift	KLHDC9	NM_152366.4,NM_001007255.2	,	3,83,6048	A1A1,A1R,RR		0.7387,0.6995,0.7255	,	,	161068706	89,12179	2176	4282	6458	SO:0001589	frameshift_variant	126823							g.chr1:161068706delC	BC022077	CCDS30919.1, CCDS41425.1	1q23.3	2008-02-05			ENSG00000162755	ENSG00000162755			28489	protein-coding gene	gene with protein product	"kelch/ankyrin repeat containing cyclin A1 interacting protein"					15159402	Standard	NM_152366		Approved	KARCA1	uc001fxr.3	Q8NEP7	OTTHUMG00000031479	ENST00000368011.4:c.381delC	1.37:g.161068706delC	ENSP00000356990:p.Cys127fs					KLHDC9_ENST00000368011.4_Frame_Shift_Del_p.C127fs|KLHDC9_ENST00000490724.2_3'UTR	p.C127fs	NM_001007255.2	NP_001007256.1	Q8NEP7	KLDC9_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00165)		1	523	+	all_cancers(52;1.28e-19)|Breast(13;0.00188)|all_hematologic(112;0.093)		127					Q5SY56|Q6NXT9|Q6PKN4|Q8N5E1|Q8NA16	Frame_Shift_Del	DEL	ENST00000368011.4	37	c.381delC	CCDS30919.1																																																																																				0.687	KLHDC9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077092.1	NM_152366		2	4						2	4	---	---	---	---	-	161068706	C	-	161068706	7	5	123	1	0	1	0	1	0	0	0	0	8364	747	26	0	383	0	KLHDC9	1	161068706	Frame_Shift_Del	DEL	C	TCGA-EJ-A65J-01A-11D-A30X-08	46584770	161068706	88181915	5	6464											
RGS21	431704	broad.mit.edu	37	chr1	192335057	192335057	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttattttccacagattaacAttgacttcggtaccagagac	12	13	6	10	1	0	3	0	1	0	2	2	4	1	3	2	1	2	1	2	1	3	7			TCGA-EJ-A65J-01A-11D-A30X-08	TCGA-EJ-A65J-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644108d8-dcc6-4d2d-85c0-ba6ac153cc9b	6773ad95-6d11-4f51-8b2b-5cc5ef4057ea	g.chr1:192335057A>C	ENST00000417209.2	+	5	436	c.262A>C	c.(262-264)Att>Ctt	p.I88L		NM_001039152.3	NP_001034241.1	Q2M5E4	RGS21_HUMAN	regulator of G-protein signaling 21	88	RGS. {ECO:0000255|PROSITE- ProRule:PRU00171}.				positive regulation of GTPase activity (GO:0043547)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)			NS(1)|endometrium(3)|large_intestine(4)|lung(5)|ovary(1)|skin(1)	15						ACAGATTAACATTGACTTCGG	0.303																																						ENST00000417209.2																			0				NS(1)|endometrium(3)|large_intestine(4)|lung(5)|ovary(1)|skin(1)	15						c.(262-264)Att>Ctt		regulator of G-protein signaling 21							89	88	88					1																	192335057		1827	4074	5901	SO:0001583	missense	431704				negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity	g.chr1:192335057A>C	AY643711	CCDS41448.1	1q31.2	2013-09-24	2007-08-14		ENSG00000253148	ENSG00000253148		"Regulators of G-protein signaling"	26839	protein-coding gene	gene with protein product		612407	"regulator of G-protein signalling 21"			15066150	Standard	NM_001039152		Approved		uc001gsh.3	Q2M5E4	OTTHUMG00000035594	ENST00000417209.2:c.262A>C	1.37:g.192335057A>C	ENSP00000428343:p.Ile88Leu						p.I88L	NM_001039152.3	NP_001034241.1	Q2M5E4	RGS21_HUMAN			5	436	+			88			RGS.			Missense_Mutation	SNP	ENST00000417209.2	37	c.262A>C	CCDS41448.1	.	.	.	.	.	.	.	.	.	.	A	11.42	1.632976	0.29068	.	.	ENSG00000253148	ENST00000417209	T	0.01933	4.55	5.69	5.69	0.88448	Regulator of G protein signalling (4);Regulator of G protein signalling superfamily (1);	0.000000	0.34133	U	0.004222	T	0.01905	0.0060	N	0.12831	0.26	0.47819	D	0.999522	B	0.17268	0.021	B	0.28232	0.087	T	0.53258	-0.8464	10	0.08179	T	0.78	.	14.7596	0.69596	1.0:0.0:0.0:0.0	.	88	Q2M5E4	RGS21_HUMAN	L	88	ENSP00000428343:I88L	ENSP00000428343:I88L	I	+	1	0	RGS21	190601680	1.000000	0.71417	1.000000	0.80357	0.447000	0.32167	4.715000	0.61909	2.164000	0.68074	0.402000	0.26972	ATT		0.303	RGS21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086387.2			29	45	0	0	0	1	0	29	45					C	192335057	A	C	192335057	3	2	123	1	0	0	0	0	1	0	0	0	13304	217	8	5	276	5	RGS21	1	192335057	Missense_Mutation	SNP	A	TCGA-EJ-A65J-01A-11D-A30X-08	31266351	192335057	56915564	6	6465											
RBKS	64080	broad.mit.edu	37	chr2	28004505	28004506	+	Frame_Shift_Ins	INS	-	-	T																															aacagagtaagcggaaggtcINSttttttgtaagggtaagatg																										TCGA-EJ-A65J-01A-11D-A30X-08	TCGA-EJ-A65J-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644108d8-dcc6-4d2d-85c0-ba6ac153cc9b	6773ad95-6d11-4f51-8b2b-5cc5ef4057ea	g.chr2:28004505_28004506insT	ENST00000302188.3	-	8	1697_1698	c.945_946insA	c.(943-948)aaagacfs	p.D316fs	AC110084.1_ENST00000601759.1_Intron	NM_022128.1	NP_071411.1	Q9H477	RBSK_HUMAN	ribokinase	316					D-ribose catabolic process (GO:0019303)	extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|ribokinase activity (GO:0004747)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	7	Acute lymphoblastic leukemia(172;0.155)					AGCGGAAGGTCTTTTTTGTAAG	0.421																																						ENST00000302188.3																			0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	7						c.(943-948)aaacctfs		ribokinase																																				SO:0001589	frameshift_variant	64080				D-ribose metabolic process		ATP binding|ribokinase activity	g.chr2:28004505_28004506insT	BC017425	CCDS1762.1	2p23.3	2008-02-05			ENSG00000171174	ENSG00000171174	2.7.1.15		30325	protein-coding gene	gene with protein product		611132				8382990	Standard	NM_022128		Approved	DKFZp686G13268, RBSK	uc002rlo.1	Q9H477	OTTHUMG00000097833	ENST00000302188.3:c.946dupA	2.37:g.28004511_28004511dupT	ENSP00000306817:p.Asp316fs					AC110084.1_ENST00000601759.1_Intron	p.P316fs	NM_022128.1	NP_071411.1	Q9H477	RBSK_HUMAN			8	1697_1698	-	Acute lymphoblastic leukemia(172;0.155)		316					A9UK04|B4DV96	Frame_Shift_Ins	INS	ENST00000302188.3	37	c.945_946insA	CCDS1762.1																																																																																				0.421	RBKS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215118.1	NM_022128		38	67						38	67	---	---	---	---	T	28004506	-	T	28004505	7	5	123	1	0	1	1	0	0	0	0	0	13108	913	32	0	26	0	RBKS	2	28004505	Frame_Shift_Ins	INS	-	TCGA-EJ-A65J-01A-11D-A30X-08		28004505	215194868	7	6466											
SIX2	10736	broad.mit.edu	37	chr2	45233391	45233391	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggtggtgttgcagtgggtccGctccacctccgcctggcacc	3	9	14	15	2	0	0	0	0	0	0	3	0	3	0	6	4	1	4	6	4	0	1			TCGA-EJ-A65J-01A-11D-A30X-08	TCGA-EJ-A65J-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644108d8-dcc6-4d2d-85c0-ba6ac153cc9b	6773ad95-6d11-4f51-8b2b-5cc5ef4057ea	g.chr2:45233391G>A	ENST00000303077.6	-	2	1113	c.794C>T	c.(793-795)gCg>gTg	p.A265V		NM_016932.4	NP_058628.3	Q9NPC8	SIX2_HUMAN	SIX homeobox 2	265					anatomical structure morphogenesis (GO:0009653)|anterior/posterior axis specification (GO:0009948)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|chondrocyte differentiation (GO:0002062)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic digestive tract morphogenesis (GO:0048557)|kidney development (GO:0001822)|mesenchymal cell differentiation involved in kidney development (GO:0072161)|mesenchymal stem cell maintenance involved in nephron morphogenesis (GO:0072038)|mesenchymal stem cell proliferation (GO:0097168)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|mesodermal cell fate specification (GO:0007501)|middle ear morphogenesis (GO:0042474)|nephron development (GO:0072006)|nephron morphogenesis (GO:0072028)|positive regulation of chondrocyte proliferation (GO:1902732)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein import into nucleus (GO:0006606)|regulation of branching involved in ureteric bud morphogenesis (GO:0090189)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(6)|large_intestine(3)|lung(8)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	22		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				CAGTGGGTCCGCTCCACCTCC	0.687																																						ENST00000303077.6																			0				endometrium(6)|large_intestine(3)|lung(8)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	22						c.(793-795)gCg>gTg		SIX homeobox 2							111	105	107					2																	45233391		2203	4300	6503	SO:0001583	missense	10736					nucleus	sequence-specific DNA binding transcription factor activity	g.chr2:45233391G>A	AF136939	CCDS1822.1	2p21	2011-06-20	2007-07-13		ENSG00000170577	ENSG00000170577		"Homeoboxes / SINE class"	10888	protein-coding gene	gene with protein product		604994	"sine oculis homeobox (Drosophila) homolog 2", "sine oculis homeobox homolog 2 (Drosophila)"				Standard	NM_016932		Approved		uc002ruo.3	Q9NPC8	OTTHUMG00000152421	ENST00000303077.6:c.794C>T	2.37:g.45233391G>A	ENSP00000304502:p.Ala265Val						p.A265V	NM_016932.4	NP_058628.3	Q9NPC8	SIX2_HUMAN			2	1113	-		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	265					Q9BXH7	Missense_Mutation	SNP	ENST00000303077.6	37	c.794C>T	CCDS1822.1	.	.	.	.	.	.	.	.	.	.	G	11.09	1.537404	0.27475	.	.	ENSG00000170577	ENST00000303077	D	0.88201	-2.35	4.13	3.25	0.37280	.	0.521910	0.19625	N	0.109811	T	0.75354	0.3838	N	0.08118	0	0.39996	D	0.975104	B;B	0.09022	0.002;0.001	B;B	0.04013	0.0;0.001	T	0.66889	-0.5809	10	0.23302	T	0.38	-19.1971	9.9787	0.41800	0.0801:0.138:0.782:0.0	.	265;265	Q8TBA2;Q9NPC8	.;SIX2_HUMAN	V	265	ENSP00000304502:A265V	ENSP00000304502:A265V	A	-	2	0	SIX2	45086895	0.943000	0.32029	1.000000	0.80357	0.682000	0.39822	2.585000	0.46111	1.035000	0.39972	-0.369000	0.07265	GCG		0.687	SIX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326188.2			12	81	0	0	0	1	0	12	81					A	45233391	G	A	45233391	3	1	123	1	0	0	0	0	1	0	0	0	14347	1087	38	1	85	1	SIX2	2	45233391	Missense_Mutation	SNP	G	TCGA-EJ-A65J-01A-11D-A30X-08	17228886	45233391	197965982	8	6467											
FBLN2	2199	broad.mit.edu	37	chr3	13659706	13659706	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gagctgtgccagcacctttgCatcaatactgtgggttctta	8	13	10	10	0	2	0	1	0	1	0	2	1	2	0	2	1	5	4	2	1	3	4			TCGA-EJ-A65J-01A-11D-A30X-08	TCGA-EJ-A65J-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644108d8-dcc6-4d2d-85c0-ba6ac153cc9b	6773ad95-6d11-4f51-8b2b-5cc5ef4057ea	g.chr3:13659706C>T	ENST00000295760.7	+	6	1929	c.1860C>T	c.(1858-1860)tgC>tgT	p.C620C	FBLN2_ENST00000404922.3_Silent_p.C620C|FBLN2_ENST00000492059.1_Silent_p.C620C|FBLN2_ENST00000535798.1_Silent_p.C646C	NM_001998.2	NP_001989.2	P98095	FBLN2_HUMAN	fibulin 2	620	EGF-like 1; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	calcium ion binding (GO:0005509)|extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)			haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(3)|prostate(3)|urinary_tract(1)	24			UCEC - Uterine corpus endometrioid carcinoma (1;0.00416)			AGCACCTTTGCATCAATACTG	0.627																																						ENST00000404922.3																			0				haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(3)|prostate(3)|urinary_tract(1)	24						c.(1858-1860)tgC>tgT		fibulin 2							95	103	101					3																	13659706		2078	4213	6291	SO:0001819	synonymous_variant	2199					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent	g.chr3:13659706C>T	X82494	CCDS46761.1, CCDS46762.1	3p25-p24	2010-06-15			ENSG00000163520	ENSG00000163520		"Fibulins"	3601	protein-coding gene	gene with protein product		135821				7806230	Standard	NM_001165035		Approved		uc011ava.2	P98095	OTTHUMG00000155437	ENST00000295760.7:c.1860C>T	3.37:g.13659706C>T						FBLN2_ENST00000535798.1_Silent_p.C646C|FBLN2_ENST00000492059.1_Silent_p.C620C|FBLN2_ENST00000295760.7_Silent_p.C620C	p.C620C	NM_001004019.1	NP_001004019.1	P98095	FBLN2_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (1;0.00416)		6	1979	+			620			EGF-like 1; calcium-binding.		B7Z9C5|Q8IUI0|Q8IUI1	Silent	SNP	ENST00000295760.7	37	c.1860C>T	CCDS46762.1																																																																																				0.627	FBLN2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000340083.3	NM_001004019		39	54	0	0	0	1	0	39	54					T	13659706	C	T	13659706	2	4	123	1	0	0	0	0	0	0	0	1	5699	718	25	3		3	FBLN2	3	13659706	Silent	SNP	C	TCGA-EJ-A65J-01A-11D-A30X-08		13659706	184362724	9	6468											
ITGA9	3680	broad.mit.edu	37	chr3	37512505	37512505	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctcttgctgcagggtccttGtgggcgcaccaaaggcagat	7	10	13	11	1	1	1	0	0	1	1	3	1	2	1	2	3	2	4	2	3	1	2			TCGA-EJ-A65J-01A-11D-A30X-08	TCGA-EJ-A65J-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644108d8-dcc6-4d2d-85c0-ba6ac153cc9b	6773ad95-6d11-4f51-8b2b-5cc5ef4057ea	g.chr3:37512505G>A	ENST00000264741.5	+	2	449	c.193G>A	c.(193-195)Gtg>Atg	p.V65M	ITGA9_ENST00000422441.1_Missense_Mutation_p.V65M	NM_002207.2	NP_002198.2	Q13797	ITA9_HUMAN	integrin, alpha 9	65					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|neutrophil chemotaxis (GO:0030593)|wound healing (GO:0042060)	basal plasma membrane (GO:0009925)|integrin alpha9-beta1 complex (GO:0034679)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(17)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|urinary_tract(1)	44				KIRC - Kidney renal clear cell carcinoma(284;0.165)|Kidney(284;0.197)		CAGGGTCCTTGTGGGCGCACC	0.522																																						ENST00000264741.5																			0				breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(17)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|urinary_tract(1)	44						c.(193-195)Gtg>Atg		integrin, alpha 9							79	75	76					3																	37512505		2203	4300	6503	SO:0001583	missense	3680				axon guidance|cell adhesion|integrin-mediated signaling pathway	integrin complex	receptor activity	g.chr3:37512505G>A	L24158	CCDS2669.1	3p21.3	2010-03-23			ENSG00000144668	ENSG00000144668		"Integrins"	6145	protein-coding gene	gene with protein product	"integrin, alpha 4-like"	603963				8245132, 8290272	Standard	NM_002207		Approved	RLC, ITGA4L, ALPHA-RLC	uc003chd.3	Q13797	OTTHUMG00000130815	ENST00000264741.5:c.193G>A	3.37:g.37512505G>A	ENSP00000264741:p.Val65Met					ITGA9_ENST00000422441.1_Missense_Mutation_p.V65M	p.V65M	NM_002207.2	NP_002198.2	Q13797	ITA9_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.165)|Kidney(284;0.197)	2	449	+			65					Q14638	Missense_Mutation	SNP	ENST00000264741.5	37	c.193G>A	CCDS2669.1	.	.	.	.	.	.	.	.	.	.	G	18.24	3.581248	0.65992	.	.	ENSG00000144668	ENST00000422441;ENST00000264741	D;D	0.87491	-2.26;-2.26	5.23	4.34	0.51931	.	0.000000	0.85682	D	0.000000	D	0.94052	0.8094	M	0.88979	2.995	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.99	D	0.94803	0.7972	10	0.87932	D	0	.	13.9996	0.64424	0.0:0.0:0.847:0.153	.	65;65	Q13797;E9PDS3	ITA9_HUMAN;.	M	65	ENSP00000397258:V65M;ENSP00000264741:V65M	ENSP00000264741:V65M	V	+	1	0	ITGA9	37487509	1.000000	0.71417	0.963000	0.40424	0.674000	0.39518	8.529000	0.90602	1.171000	0.42768	0.655000	0.94253	GTG		0.522	ITGA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253361.1	NM_002207		13	34	0	0	0	1	0	13	34					A	37512505	G	A	37512505	3	1	123	1	0	0	0	0	1	0	0	0	7883	1377	48	3	199	3	ITGA9	3	37512505	Missense_Mutation	SNP	G	TCGA-EJ-A65J-01A-11D-A30X-08	23852799	37512505	160509925	10	6469											
MON1A	84315	broad.mit.edu	37	chr3	49947931	49947931	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagaaattggtcctttcggcGcacgagtgccacgagctggt	8	9	13	11	4	0	1	0	0	0	1	2	3	1	1	2	3	2	2	2	3	1	2			TCGA-EJ-A65J-01A-11D-A30X-08	TCGA-EJ-A65J-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644108d8-dcc6-4d2d-85c0-ba6ac153cc9b	6773ad95-6d11-4f51-8b2b-5cc5ef4057ea	g.chr3:49947931G>A	ENST00000417270.1	-	5	1717	c.1024C>T	c.(1024-1026)Cgc>Tgc	p.R342C	MON1A_ENST00000455683.2_Missense_Mutation_p.R269C|MON1A_ENST00000483022.1_5'Flank|CTD-2330K9.3_ENST00000419183.1_Intron|MON1A_ENST00000296473.3_Missense_Mutation_p.R431C			Q86VX9	MON1A_HUMAN	MON1 secretory trafficking family member A	334										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(2)|prostate(1)	13				BRCA - Breast invasive adenocarcinoma(193;4.62e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		TCCTTTCGGCGCACGAGTGCC	0.657																																						ENST00000417270.1																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(2)|prostate(1)	13						c.(1024-1026)Cgc>Tgc		MON1 secretory trafficking family member A							33	37	36					3																	49947931		2203	4300	6503	SO:0001583	missense	84315						protein binding	g.chr3:49947931G>A	AK074404	CCDS2808.2, CCDS46830.1	3p21.31	2013-08-21	2013-08-21		ENSG00000164077	ENSG00000164077			28207	protein-coding gene	gene with protein product		611464	"MON1 homolog A (yeast)"			12477932	Standard	NM_032355		Approved	MGC13272, SAND1	uc003cxz.3	Q86VX9	OTTHUMG00000156737	ENST00000417270.1:c.1024C>T	3.37:g.49947931G>A	ENSP00000399613:p.Arg342Cys					MON1A_ENST00000455683.2_Missense_Mutation_p.R269C|CTD-2330K9.3_ENST00000419183.1_Intron|MON1A_ENST00000296473.3_Missense_Mutation_p.R431C	p.R342C			Q86VX9	MON1A_HUMAN		BRCA - Breast invasive adenocarcinoma(193;4.62e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)	5	1717	-			334					B2RDQ1|G5E9N1|Q8NAV7|Q9BRF3	Missense_Mutation	SNP	ENST00000417270.1	37	c.1024C>T		.	.	.	.	.	.	.	.	.	.	G	17.45	3.392779	0.62066	.	.	ENSG00000164077	ENST00000296473;ENST00000417270;ENST00000455683	.	.	.	5.72	4.8	0.61643	.	0.000000	0.85682	D	0.000000	D	0.84951	0.5586	M	0.93150	3.385	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.99;0.999;0.996	D	0.87768	0.2603	8	.	.	.	-18.8622	12.0368	0.53429	0.0:0.0:0.6656:0.3344	.	172;269;334	Q86VX9-3;G5E9N1;Q86VX9	.;.;MON1A_HUMAN	C	431;342;269	.	.	R	-	1	0	MON1A	49922935	1.000000	0.71417	1.000000	0.80357	0.591000	0.36615	2.520000	0.45554	2.712000	0.92718	0.555000	0.69702	CGC		0.657	MON1A-005	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000345538.2	NM_032355		3	36	0	0	0	1	0	3	36					A	49947931	G	A	49947931	3	1	123	1	0	0	0	0	1	0	0	0	9698	1087	38	1	679	1	MON1A	3	49947931	Missense_Mutation	SNP	G	TCGA-EJ-A65J-01A-11D-A30X-08	12435426	49947931	148074499	11	6470											
C3orf27	23434	broad.mit.edu	37	chr3	128292542	128292542	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggaaaccagctcactgcagcGgaccactatctgatggagcg	11	6	12	12	2	2	1	1	1	1	0	2	4	2	4	2	3	5	2	2	3	2	1			TCGA-EJ-A65J-01A-11D-A30X-08	TCGA-EJ-A65J-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644108d8-dcc6-4d2d-85c0-ba6ac153cc9b	6773ad95-6d11-4f51-8b2b-5cc5ef4057ea	g.chr3:128292542G>A	ENST00000356020.2	-	3	997	c.31C>T	c.(31-33)Cgc>Tgc	p.R11C		NM_007354.2	NP_031380.1	O15544	GR6_HUMAN	chromosome 3 open reading frame 27	11										large_intestine(2)|lung(5)|prostate(1)	8				GBM - Glioblastoma multiforme(114;0.176)		TCACTGCAGCGGACCACTATC	0.552																																						ENST00000356020.2																			0				large_intestine(2)|lung(5)|prostate(1)	8						c.(31-33)Cgc>Tgc		chromosome 3 open reading frame 27							26	26	26					3																	128292542		2203	4300	6503	SO:0001583	missense	23434							g.chr3:128292542G>A	AF008192	CCDS3050.1	3q21	2005-12-19			ENSG00000198685	ENSG00000198685			17099	protein-coding gene	gene with protein product						9307271	Standard	NR_125802		Approved	GR6	uc003ekq.3	O15544	OTTHUMG00000159688	ENST00000356020.2:c.31C>T	3.37:g.128292542G>A	ENSP00000348302:p.Arg11Cys						p.R11C	NM_007354.2	NP_031380.1	O15544	GR6_HUMAN		GBM - Glioblastoma multiforme(114;0.176)	3	997	-			11						Missense_Mutation	SNP	ENST00000356020.2	37	c.31C>T	CCDS3050.1	.	.	.	.	.	.	.	.	.	.	G	6.772	0.511303	0.12944	.	.	ENSG00000198685	ENST00000356020	.	.	.	3.66	-2.18	0.07037	.	.	.	.	.	T	0.22936	0.0554	N	0.08118	0	0.34275	D	0.681501	B	0.16396	0.017	B	0.12837	0.008	T	0.03034	-1.1080	8	0.87932	D	0	.	5.2601	0.15567	0.3534:0.1371:0.5095:0.0	.	11	O15544	GR6_HUMAN	C	11	.	ENSP00000348302:R11C	R	-	1	0	C3orf27	129775232	0.978000	0.34361	0.015000	0.15790	0.015000	0.08874	0.828000	0.27435	-1.207000	0.02637	-1.386000	0.01163	CGC		0.552	C3orf27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356924.1	NM_007354		15	27	0	0	0	1	0	15	27					A	128292542	G	A	128292542	3	1	123	1	0	0	0	0	1	0	0	0	2219	1116	39	2	422	2	C3orf27	3	128292542	Missense_Mutation	SNP	G	TCGA-EJ-A65J-01A-11D-A30X-08	78344611	128292542	69729888	12	6471											
XRN1	54464	broad.mit.edu	37	chr3	142141706	142141706	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgaaaactcatagtcaatatActctctcattaaagacaagt	17	12	4	8	0	4	2	3	1	1	1	5	2	4	2	0	0	2	0	0	0	9	4			TCGA-EJ-A65J-01A-11D-A30X-08	TCGA-EJ-A65J-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644108d8-dcc6-4d2d-85c0-ba6ac153cc9b	6773ad95-6d11-4f51-8b2b-5cc5ef4057ea	g.chr3:142141706A>T	ENST00000264951.4	-	7	886	c.769T>A	c.(769-771)Tat>Aat	p.Y257N	XRN1_ENST00000544157.1_Missense_Mutation_p.Y47N|RNU1-100P_ENST00000365255.1_RNA|XRN1_ENST00000392981.2_Missense_Mutation_p.Y257N|XRN1_ENST00000463916.1_Missense_Mutation_p.Y257N	NM_019001.3	NP_061874.3	Q8IZH2	XRN1_HUMAN	5'-3' exoribonuclease 1	257					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|histone mRNA catabolic process (GO:0071044)|mRNA metabolic process (GO:0016071)|nuclear mRNA surveillance (GO:0071028)|nuclear-transcribed mRNA catabolic process (GO:0000956)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)|rRNA catabolic process (GO:0016075)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|membrane (GO:0016020)	5'-3' exonuclease activity (GO:0008409)|DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(3)|endometrium(6)|kidney(12)|large_intestine(11)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	61						TAGTCAATATACTCTCTCATT	0.328																																						ENST00000264951.4																			0				NS(1)|breast(3)|endometrium(6)|kidney(12)|large_intestine(11)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	61						c.(769-771)Tat>Aat		5'-3' exoribonuclease 1							64	70	68					3																	142141706		2203	4295	6498	SO:0001583	missense	54464				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|histone mRNA catabolic process|nuclear mRNA surveillance|rRNA catabolic process	cytosol|Golgi apparatus|intermediate filament cytoskeleton|plasma membrane	5'-3' exonuclease activity|DNA binding|protein binding|RNA binding	g.chr3:142141706A>T	AY137776	CCDS3123.1, CCDS63801.1, CCDS75028.1	3q23	2008-02-05			ENSG00000114127	ENSG00000114127			30654	protein-coding gene	gene with protein product		607994				12515382	Standard	XM_005247544		Approved	SEP1	uc003eus.3	Q8IZH2	OTTHUMG00000159251	ENST00000264951.4:c.769T>A	3.37:g.142141706A>T	ENSP00000264951:p.Tyr257Asn					XRN1_ENST00000544157.1_Missense_Mutation_p.Y47N|XRN1_ENST00000392981.2_Missense_Mutation_p.Y257N|XRN1_ENST00000463916.1_Missense_Mutation_p.Y257N	p.Y257N	NM_019001.3	NP_061874.3	Q8IZH2	XRN1_HUMAN			7	886	-			257					Q4G0S3|Q68D88|Q6AI24|Q6MZS8|Q86WS7|Q8N8U4|Q9UF39	Missense_Mutation	SNP	ENST00000264951.4	37	c.769T>A	CCDS3123.1	.	.	.	.	.	.	.	.	.	.	A	24.3	4.511953	0.85389	.	.	ENSG00000114127	ENST00000264951;ENST00000392981;ENST00000463916;ENST00000544157;ENST00000477237	T;T	0.46819	0.86;0.86	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	T	0.78233	0.4251	H	0.95260	3.645	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;1.0;0.98;1.0;0.999	D	0.85333	0.1091	10	0.87932	D	0	-19.0539	15.7095	0.77615	1.0:0.0:0.0:0.0	.	47;257;118;257;257	B4E2K3;Q8IZH2-3;B3KW17;Q8IZH2-2;Q8IZH2	.;.;.;.;XRN1_HUMAN	N	257;257;257;47;118	ENSP00000264951:Y257N;ENSP00000376707:Y257N	ENSP00000264951:Y257N	Y	-	1	0	XRN1	143624396	1.000000	0.71417	0.997000	0.53966	0.980000	0.70556	6.840000	0.75369	2.102000	0.63906	0.528000	0.53228	TAT		0.328	XRN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000354087.2	NM_019001		18	52	0	0	0	1	0	18	52					T	142141706	A	T	142141706	3	4	123	1	0	0	0	0	1	0	0	0	17456	391	14	5	4495	5	XRN1	3	142141706	Missense_Mutation	SNP	A	TCGA-EJ-A65J-01A-11D-A30X-08	13849164	142141706	55880724	13	6472											
C4orf41	60684	broad.mit.edu	37	chr4	184614173	184614173	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgtgtggttttaaattggCagggaggaggaggagatgct	10	11	18	2	0	0	1	0	0	0	1	0	6	0	4	0	6	1	3	0	6	2	3			TCGA-EJ-A65J-01A-11D-A30X-08	TCGA-EJ-A65J-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644108d8-dcc6-4d2d-85c0-ba6ac153cc9b	6773ad95-6d11-4f51-8b2b-5cc5ef4057ea	g.chr4:184614173C>T	ENST00000334690.6	+	20	2312	c.2110C>T	c.(2110-2112)Cag>Tag	p.Q704*	TRAPPC11_ENST00000357207.4_Nonsense_Mutation_p.Q704*|TRAPPC11_ENST00000512476.1_Nonsense_Mutation_p.Q310*	NM_021942.5	NP_068761.4	Q7Z392	TPC11_HUMAN	trafficking protein particle complex 11	704					vesicle-mediated transport (GO:0016192)	Golgi apparatus (GO:0005794)											TTTAAATTGGCAGGGAGGAGG	0.453																																						ENST00000334690.6																			0											c.(2110-2112)Cag>Tag		trafficking protein particle complex 11							120	114	116					4																	184614173		2203	4300	6503	SO:0001587	stop_gained	60684							g.chr4:184614173C>T		CCDS34112.1, CCDS47166.1	4q35.1	2011-12-12	2011-12-12	2011-12-12	ENSG00000168538	ENSG00000168538		"Trafficking protein particle complex"	25751	protein-coding gene	gene with protein product	"gryzun homolog (Drosophila)", "foie gras homolog (zebrafish)"	614138	"chromosome 4 open reading frame 41"	C4orf41		19942856, 21525244	Standard	NM_021942		Approved	FLJ12716, gry, foigr	uc003ivx.3	Q7Z392	OTTHUMG00000160673	ENST00000334690.6:c.2110C>T	4.37:g.184614173C>T	ENSP00000335371:p.Gln704*					TRAPPC11_ENST00000512476.1_Nonsense_Mutation_p.Q310*|TRAPPC11_ENST00000357207.4_Nonsense_Mutation_p.Q704*	p.Q704*	NM_021942.5	NP_068761.4	Q7Z392	CD041_HUMAN			20	2312	+			704					A4QPB8|B2RCD6|Q5U5I7|Q6FI73|Q86T25|Q9H0L1|Q9H5K9|Q9H8Q1|Q9H9I7	Nonsense_Mutation	SNP	ENST00000334690.6	37	c.2110C>T	CCDS34112.1	.	.	.	.	.	.	.	.	.	.	C	37	6.526547	0.97637	.	.	ENSG00000168538	ENST00000334690;ENST00000357207;ENST00000360109;ENST00000512476	.	.	.	5.27	5.27	0.74061	.	0.120621	0.56097	D	0.000025	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07813	T	0.8	.	13.9769	0.64279	0.1514:0.8486:0.0:0.0	.	.	.	.	X	704;704;704;310	.	ENSP00000335371:Q704X	Q	+	1	0	C4orf41	184851167	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.867000	0.48428	2.745000	0.94114	0.650000	0.86243	CAG		0.453	TRAPPC11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361654.2	NM_021942		34	54	0	0	0	1	0	34	54					T	184614173	C	T	184614173	4	4	123	1	0	0	0	0	0	1	0	0	2270	711	25	3	2184	3	C4orf41	4	184614173	Nonsense_Mutation	SNP	C	TCGA-EJ-A65J-01A-11D-A30X-08		184614173	6540103	14	6473											
GZMK	3003	broad.mit.edu	37	chr5	54326364	54326364	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atcaaaaaatttataccattCtcaagagttacatcagatcc	17	12	3	9	0	3	2	3	0	1	2	5	2	4	2	2	0	2	1	2	0	7	5			TCGA-EJ-A65J-01A-11D-A30X-08	TCGA-EJ-A65J-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644108d8-dcc6-4d2d-85c0-ba6ac153cc9b	6773ad95-6d11-4f51-8b2b-5cc5ef4057ea	g.chr5:54326364C>G	ENST00000231009.2	+	3	385	c.315C>G	c.(313-315)ttC>ttG	p.F105L	CTD-2313F11.1_ENST00000609792.1_RNA|CTD-2313F11.1_ENST00000608929.1_RNA|CTD-2313F11.1_ENST00000608466.1_RNA|CTD-2313F11.1_ENST00000596137.1_RNA|CTD-2313F11.1_ENST00000595218.1_RNA|CTD-2313F11.1_ENST00000609699.1_RNA	NM_002104.2	NP_002095.1	P49863	GRAK_HUMAN	granzyme K (granzyme 3; tryptase II)	105	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4)	15		Lung NSC(810;4.08e-05)|Breast(144;0.0433)|Prostate(74;0.183)				TTATACCATTCTCAAGAGTTA	0.388																																						ENST00000231009.2																			0				autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4)	15						c.(313-315)ttC>ttG		granzyme K (granzyme 3; tryptase II)							145	141	142					5																	54326364		2203	4300	6503	SO:0001583	missense	3003				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr5:54326364C>G	BC035802	CCDS3964.1	5q11.2	2008-05-15	2005-08-17		ENSG00000113088	ENSG00000113088			4711	protein-coding gene	gene with protein product		600784	"granzyme K (serine protease, granzyme 3; tryptase II)"			7758581	Standard	NM_002104		Approved	TRYP2, PRSS	uc003jpl.1	P49863	OTTHUMG00000097009	ENST00000231009.2:c.315C>G	5.37:g.54326364C>G	ENSP00000231009:p.Phe105Leu					CTD-2313F11.1_ENST00000595218.1_RNA|CTD-2313F11.1_ENST00000596137.1_RNA	p.F105L	NM_002104.2	NP_002095.1	P49863	GRAK_HUMAN			3	385	+		Lung NSC(810;4.08e-05)|Breast(144;0.0433)|Prostate(74;0.183)	105			Peptidase S1.		B2R563	Missense_Mutation	SNP	ENST00000231009.2	37	c.315C>G	CCDS3964.1	.	.	.	.	.	.	.	.	.	.	C	11.30	1.598073	0.28445	.	.	ENSG00000113088	ENST00000231009	D	0.88124	-2.34	4.23	3.37	0.38596	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.299238	0.31909	N	0.006880	T	0.72819	0.3508	N	0.11201	0.11	0.37005	D	0.895453	B	0.12013	0.005	B	0.16289	0.015	T	0.70156	-0.4949	10	0.44086	T	0.13	.	8.107	0.30892	0.0:0.8918:0.0:0.1082	.	105	P49863	GRAK_HUMAN	L	105	ENSP00000231009:F105L	ENSP00000231009:F105L	F	+	3	2	GZMK	54362121	0.303000	0.24463	0.871000	0.34182	0.371000	0.29859	0.592000	0.23984	1.367000	0.46095	0.655000	0.94253	TTC		0.388	GZMK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214098.1	NM_002104		29	49	0	0	0	1	0	29	49					G	54326364	C	G	54326364	3	3	123	1	0	0	0	0	1	0	0	0	6918	912	32	5	325	5	GZMK	5	54326364	Missense_Mutation	SNP	C	TCGA-EJ-A65J-01A-11D-A30X-08		54326364	126588896	15	6474											
TNIP1	10318	broad.mit.edu	37	chr5	150444612	150444612	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gatgcctctcctgagggcacGctgcccccagggtcgtagat	6	8	13	14	2	1	2	0	1	1	1	3	3	1	2	4	2	2	3	4	2	1	1			TCGA-EJ-A65J-01A-11D-A30X-08	TCGA-EJ-A65J-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644108d8-dcc6-4d2d-85c0-ba6ac153cc9b	6773ad95-6d11-4f51-8b2b-5cc5ef4057ea	g.chr5:150444612G>A	ENST00000389378.2	-	2	633	c.45C>T	c.(43-45)agC>agT	p.S15S	TNIP1_ENST00000522226.1_Silent_p.S15S|TNIP1_ENST00000315050.7_Silent_p.S15S|TNIP1_ENST00000524280.1_Silent_p.S15S|TNIP1_ENST00000523338.1_Silent_p.S15S|TNIP1_ENST00000518977.1_Silent_p.S15S|TNIP1_ENST00000523200.1_Silent_p.S15S|TNIP1_ENST00000521591.1_Silent_p.S15S|TNIP1_ENST00000520931.1_Intron	NM_001252385.1|NM_001252393.1|NM_001258454.1|NM_006058.4	NP_001239314.1|NP_001239322.1|NP_001245383.1|NP_006049.3	Q15025	TNIP1_HUMAN	TNFAIP3 interacting protein 1	15					defense response (GO:0006952)|glycoprotein biosynthetic process (GO:0009101)|inflammatory response (GO:0006954)|leukocyte cell-cell adhesion (GO:0007159)|modulation by symbiont of host I-kappaB kinase/NF-kappaB cascade (GO:0085032)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of viral genome replication (GO:0045071)|positive regulation of inflammatory response (GO:0050729)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|translation (GO:0006412)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634)	mitogen-activated protein kinase binding (GO:0051019)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(1)|lung(5)|ovary(2)|prostate(2)|skin(3)	23		Medulloblastoma(196;0.0911)|all_hematologic(541;0.207)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CTGAGGGCACGCTGCCCCCAG	0.577																																						ENST00000389378.2																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(1)|lung(5)|ovary(2)|prostate(2)|skin(3)	23						c.(43-45)agC>agT		TNFAIP3 interacting protein 1							92	84	86					5																	150444612		2203	4300	6503	SO:0001819	synonymous_variant	10318				defense response|glycoprotein biosynthetic process|negative regulation of viral genome replication|translation	cytoplasm|nucleus	protein binding	g.chr5:150444612G>A	AJ011895	CCDS34280.1, CCDS58982.1, CCDS58983.1, CCDS58984.1, CCDS58985.1, CCDS75359.1	5q32-q33.1	2008-07-18							16903	protein-coding gene	gene with protein product	"virion-associated nuclear-shuttling protein", "Nef-associated factor 1 SNP"	607714				9923610, 11090181	Standard	NM_001252385		Approved	NAF1, KIAA0113, ABIN-1, VAN	uc003ltj.3	Q15025		ENST00000389378.2:c.45C>T	5.37:g.150444612G>A						TNIP1_ENST00000523200.1_Silent_p.S15S|TNIP1_ENST00000523338.1_Silent_p.S15S|TNIP1_ENST00000315050.7_Silent_p.S15S|TNIP1_ENST00000518977.1_Silent_p.S15S|TNIP1_ENST00000521591.1_Silent_p.S15S|TNIP1_ENST00000524280.1_Silent_p.S15S|TNIP1_ENST00000522226.1_Silent_p.S15S|TNIP1_ENST00000520931.1_Intron	p.S15S	NM_001252385.1|NM_001252393.1|NM_001258454.1|NM_006058.4	NP_001239314.1|NP_001239322.1|NP_001245383.1|NP_006049.3	Q15025	TNIP1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		2	633	-		Medulloblastoma(196;0.0911)|all_hematologic(541;0.207)	15					A4F1W8|A4F1W9|A4F1X2|A4F1X4|A4F1X5|A4F1X6|A4F1X7|A4F1X9|B7Z699|E7EPY1|E7ET96|O76008|Q05KP3|Q05KP4|Q6N077|Q96EL9|Q99833|Q9H1J3	Silent	SNP	ENST00000389378.2	37	c.45C>T	CCDS34280.1																																																																																				0.577	TNIP1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374914.1	NM_006058		3	50	0	0	0	1	0	3	50					A	150444612	G	A	150444612	2	1	123	1	0	0	0	0	0	0	0	1	16311	1078	38	1		1	TNIP1	5	150444612	Silent	SNP	G	TCGA-EJ-A65J-01A-11D-A30X-08	96118248	150444612	30470648	16	6475											
F13A1	2162	broad.mit.edu	37	chr6	6225029	6225029	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagtccaggccgatggggggAcgccataggcatagatattg	10	7	15	9	2	0	1	0	0	0	1	1	3	1	2	3	5	0	1	3	5	3	4			TCGA-EJ-A65J-01A-11D-A30X-08	TCGA-EJ-A65J-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644108d8-dcc6-4d2d-85c0-ba6ac153cc9b	6773ad95-6d11-4f51-8b2b-5cc5ef4057ea	g.chr6:6225029A>T	ENST00000264870.3	-	7	1128	c.863T>A	c.(862-864)gTc>gAc	p.V288D		NM_000129.3	NP_000120.2	P00488	F13A_HUMAN	coagulation factor XIII, A1 polypeptide	288					blood coagulation (GO:0007596)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|platelet alpha granule lumen (GO:0031093)	metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	62	Ovarian(93;0.0816)	all_hematologic(90;0.152)			L-Glutamine(DB00130)	CGATGGGGGGACGCCATAGGC	0.507																																						ENST00000264870.3																			0				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	62						c.(862-864)gTc>gAc		coagulation factor XIII, A1 polypeptide	L-Glutamine(DB00130)						110	104	106					6																	6225029		2203	4300	6503	SO:0001583	missense	2162				peptide cross-linking|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity	g.chr6:6225029A>T	M14539	CCDS4496.1	6p24.2-p23	2014-01-24			ENSG00000124491	ENSG00000124491		"Transglutaminases"	3531	protein-coding gene	gene with protein product		134570		F13A			Standard	NM_000129		Approved		uc003mwv.3	P00488	OTTHUMG00000014186	ENST00000264870.3:c.863T>A	6.37:g.6225029A>T	ENSP00000264870:p.Val288Asp						p.V288D	NM_000129.3	NP_000120.2	P00488	F13A_HUMAN			7	1128	-	Ovarian(93;0.0816)	all_hematologic(90;0.152)	288					Q59HA7|Q8N6X2|Q96P24|Q9BX29	Missense_Mutation	SNP	ENST00000264870.3	37	c.863T>A	CCDS4496.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	18.99|18.99	3.740588|3.740588	0.69304|0.69304	.|.	.|.	ENSG00000124491|ENSG00000124491	ENST00000445223|ENST00000264870;ENST00000441301	.|D	.|0.96136	.|-3.92	5.51|5.51	5.51|5.51	0.81932|0.81932	.|.	.|0.065842	.|0.64402	.|D	.|0.000010	D|D	0.97300|0.97300	0.9117|0.9117	M|M	0.88570|0.88570	2.965|2.965	0.35604|0.35604	D|D	0.808128|0.808128	.|D;D	.|0.65815	.|0.971;0.995	.|P;P	.|0.61201	.|0.809;0.885	D|D	0.99232|0.99232	1.0882|1.0882	5|10	.|0.72032	.|D	.|0.01	.|.	14.8113|14.8113	0.69996|0.69996	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|225;288	.|F5H080;P00488	.|.;F13A_HUMAN	T|D	5|288;225	.|ENSP00000264870:V288D	.|ENSP00000264870:V288D	S|V	-|-	1|2	0|0	F13A1|F13A1	6170028|6170028	0.630000|0.630000	0.27155|0.27155	0.004000|0.004000	0.12327|0.12327	0.954000|0.954000	0.61252|0.61252	5.736000|5.736000	0.68597|0.68597	2.083000|2.083000	0.62718|0.62718	0.460000|0.460000	0.39030|0.39030	TCC|GTC		0.507	F13A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039756.3	NM_000129		41	49	0	0	0	1	0	41	49					T	6225029	A	T	6225029	3	4	123	1	0	0	0	0	1	0	0	0	5340	275	10	5	1371	5	F13A1	6	6225029	Missense_Mutation	SNP	A	TCGA-EJ-A65J-01A-11D-A30X-08		6225029	164890038	17	6476											
TINAG	27283	broad.mit.edu	37	chr6	54216177	54216177	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agataatgaaagaaatcatgCaaaatggaccagttcaaggt	19	8	9	5	0	2	3	2	1	0	2	2	4	2	4	1	2	1	2	1	2	6	2			TCGA-EJ-A65J-01A-11D-A30X-08	TCGA-EJ-A65J-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644108d8-dcc6-4d2d-85c0-ba6ac153cc9b	6773ad95-6d11-4f51-8b2b-5cc5ef4057ea	g.chr6:54216177C>T	ENST00000259782.4	+	8	1204	c.1108C>T	c.(1108-1110)Caa>Taa	p.Q370*		NM_014464.3	NP_055279.3	Q9UJW2	TINAG_HUMAN	tubulointerstitial nephritis antigen	370					cell adhesion (GO:0007155)|immune response (GO:0006955)	basement membrane (GO:0005604)	cysteine-type endopeptidase activity (GO:0004197)|nucleotide binding (GO:0000166)|polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(1)	34	Lung NSC(77;0.0518)		LUSC - Lung squamous cell carcinoma(124;0.246)			AGAAATCATGCAAAATGGACC	0.318																																						ENST00000259782.4																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(1)	34						c.(1108-1110)Caa>Taa		tubulointerstitial nephritis antigen							95	94	94					6																	54216177		2202	4295	6497	SO:0001587	stop_gained	27283				cell adhesion|immune response|Malpighian tubule morphogenesis|proteolysis	basement membrane	cysteine-type endopeptidase activity|nucleotide binding|polysaccharide binding|scavenger receptor activity	g.chr6:54216177C>T	AB022277	CCDS4955.1	6p12.1	2008-05-15			ENSG00000137251	ENSG00000137251			14599	protein-coding gene	gene with protein product		606749				10652240	Standard	NM_014464		Approved		uc003pcj.2	Q9UJW2	OTTHUMG00000014893	ENST00000259782.4:c.1108C>T	6.37:g.54216177C>T	ENSP00000259782:p.Gln370*						p.Q370*	NM_014464.3	NP_055279.3	Q9UJW2	TINAG_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.246)		8	1204	+	Lung NSC(77;0.0518)		370					Q5T467|Q9UJW1|Q9ULZ4	Nonsense_Mutation	SNP	ENST00000259782.4	37	c.1108C>T	CCDS4955.1	.	.	.	.	.	.	.	.	.	.	C	40	8.305710	0.98752	.	.	ENSG00000137251	ENST00000339741;ENST00000259782;ENST00000370865	.	.	.	5.08	5.08	0.68730	.	0.227470	0.31872	N	0.006922	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.18276	T	0.48	.	12.6869	0.56952	0.0:0.7273:0.2727:0.0	.	.	.	.	X	229;370;49	.	ENSP00000259782:Q370X	Q	+	1	0	TINAG	54324136	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	1.632000	0.37102	2.498000	0.84270	0.655000	0.94253	CAA		0.318	TINAG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040984.1	NM_014464		7	20	0	0	0	1	0	7	20					T	54216177	C	T	54216177	4	4	123	1	0	0	0	0	0	1	0	0	15918	711	25	3	1138	3	TINAG	6	54216177	Nonsense_Mutation	SNP	C	TCGA-EJ-A65J-01A-11D-A30X-08	47991148	54216177	116898890	18	6477											
MUC17	140453	broad.mit.edu	37	chr7	100683098	100683098	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ctgctgaagttaccagcatgCcaacctcaactcctagtgaa	12	9	7	13	0	1	2	1	2	0	0	2	2	2	2	4	0	6	3	4	0	6	2			TCGA-EJ-A65J-01A-11D-A30X-08	TCGA-EJ-A65J-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644108d8-dcc6-4d2d-85c0-ba6ac153cc9b	6773ad95-6d11-4f51-8b2b-5cc5ef4057ea	g.chr7:100683098C>T	ENST00000306151.4	+	3	8465	c.8401C>T	c.(8401-8403)Cca>Tca	p.P2801S		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	2801	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)	p.P2801S(1)		NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					TACCAGCATGCCAACCTCAAC	0.502																																						ENST00000306151.4																			1	Substitution - Missense(1)	p.P2801S(1)	prostate(1)	NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343						c.(8401-8403)Cca>Tca		mucin 17, cell surface associated							256	255	256					7																	100683098		2203	4300	6503	SO:0001583	missense	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100683098C>T	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"Mucins"	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.8401C>T	7.37:g.100683098C>T	ENSP00000302716:p.Pro2801Ser						p.P2801S	NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN			3	8465	+	Lung NSC(181;0.136)|all_lung(186;0.182)		2801			59 X approximate tandem repeats.|Ser-rich.		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	c.8401C>T	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	C	2.203	-0.382546	0.04966	.	.	ENSG00000169876	ENST00000306151	T	0.01887	4.58	0.911	-1.82	0.07857	.	.	.	.	.	T	0.01940	0.0061	N	0.11560	0.145	0.09310	N	1	D	0.57571	0.98	P	0.59424	0.857	T	0.16867	-1.0388	9	0.08179	T	0.78	.	0.6433	0.00814	0.2492:0.2046:0.3467:0.1995	.	2801	Q685J3	MUC17_HUMAN	S	2801	ENSP00000302716:P2801S	ENSP00000302716:P2801S	P	+	1	0	MUC17	100469818	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-2.801000	0.00761	-2.216000	0.00732	0.134000	0.15878	CCA		0.502	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		7	368	0	0	0	1	0	7	368					T	100683098	C	T	100683098	3	4	123	1	0	0	0	0	1	0	0	0	9974	739	26	3	8411	3	MUC17	7	100683098	Missense_Mutation	SNP	C	TCGA-EJ-A65J-01A-11D-A30X-08		100683098	58455565	19	6478											
CSMD1	64478	broad.mit.edu	37	chr8	2824233	2824233	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atcactactgacaatcattcCgttggtgggtgtgccagggt	8	12	12	9	1	2	1	2	1	0	0	3	1	3	1	2	3	2	1	2	3	2	3			TCGA-EJ-A65J-01A-11D-A30X-08	TCGA-EJ-A65J-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644108d8-dcc6-4d2d-85c0-ba6ac153cc9b	6773ad95-6d11-4f51-8b2b-5cc5ef4057ea	g.chr8:2824233C>T	ENST00000520002.1	-	59	9517	c.8962G>A	c.(8962-8964)Gga>Aga	p.G2988R	CSMD1_ENST00000537824.1_Missense_Mutation_p.G2987R|CSMD1_ENST00000602723.1_Intron|CSMD1_ENST00000400186.3_Intron|CSMD1_ENST00000542608.1_Intron|CSMD1_ENST00000602557.1_Missense_Mutation_p.G2988R			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	2988	Sushi 23. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		ACAATCATTCCGTTGGTGGGT	0.527																																						ENST00000520002.1																			0				breast(20)|large_intestine(5)	25						c.(8962-8964)Gga>Aga		CUB and Sushi multiple domains 1							61	63	62					8																	2824233		2070	4210	6280	SO:0001583	missense	64478					integral to membrane		g.chr8:2824233C>T			8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	14026	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 24"	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.8962G>A	8.37:g.2824233C>T	ENSP00000430733:p.Gly2988Arg					CSMD1_ENST00000602723.1_Intron|CSMD1_ENST00000400186.3_Intron|CSMD1_ENST00000602557.1_Missense_Mutation_p.G2988R|CSMD1_ENST00000542608.1_Intron|CSMD1_ENST00000537824.1_Missense_Mutation_p.G2987R	p.G2988R			Q96PZ7	CSMD1_HUMAN		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)	59	9517	-		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)	2988			Sushi 23.		Q0H0J5|Q96QU9|Q96RM4	Missense_Mutation	SNP	ENST00000520002.1	37	c.8962G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.85|17.85	3.489602|3.489602	0.64074|0.64074	.|.	.|.	ENSG00000183117|ENSG00000183117	ENST00000520002;ENST00000318252;ENST00000537824|ENST00000335551	T;T|.	0.56611|.	0.45;0.45|.	5.46|5.46	5.46|5.46	0.80206|0.80206	Complement control module (2);Sushi/SCR/CCP (3);|.	0.068305|.	0.64402|.	D|.	0.000020|.	D|D	0.88676|0.88676	0.6501|0.6501	H|H	0.96943|0.96943	3.91|3.91	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;0.999|.	D;D|.	0.97110|.	1.0;0.974|.	D|D	0.92250|0.92250	0.5808|0.5808	10|5	0.87932|.	D|.	0|.	.|.	19.3169|19.3169	0.94218|0.94218	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	2988;2988|.	E5RIG2;Q96PZ7|.	.;CSMD1_HUMAN|.	R|Q	2988;2849;2987|2404	ENSP00000430733:G2988R;ENSP00000441462:G2987R|.	ENSP00000320445:G2849R|.	G|R	-|-	1|2	0|0	CSMD1|CSMD1	2811640|2811640	1.000000|1.000000	0.71417|0.71417	0.215000|0.215000	0.23724|0.23724	0.022000|0.022000	0.10575|0.10575	7.635000|7.635000	0.83286|0.83286	2.557000|2.557000	0.86248|0.86248	0.655000|0.655000	0.94253|0.94253	GGA|CGG		0.527	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000374500.2	NM_033225		7	8	0	0	0	1	0	7	8					T	2824233	C	T	2824233	3	4	123	1	0	0	0	0	1	0	0	0	3944	661	23	2	1787	2	CSMD1	8	2824233	Missense_Mutation	SNP	C	TCGA-EJ-A65J-01A-11D-A30X-08		2824233	143539789	20	6479											
ADRA1A	148	broad.mit.edu	37	chr8	26628173	26628173	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tcagagggcttgaaatcaggGaagaaagaccctggaagaaa	17	5	13	6	0	2	5	2	1	0	4	2	7	2	7	1	3	0	1	1	3	5	1			TCGA-EJ-A65J-01A-11D-A30X-08	TCGA-EJ-A65J-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644108d8-dcc6-4d2d-85c0-ba6ac153cc9b	6773ad95-6d11-4f51-8b2b-5cc5ef4057ea	g.chr8:26628173G>A	ENST00000519229.1	-	2	900	c.894C>T	c.(892-894)ttC>ttT	p.F298F	ADRA1A_ENST00000380582.3_Silent_p.F298F|ADRA1A_ENST00000354550.4_Silent_p.F298F|ADRA1A_ENST00000380573.3_Silent_p.F298F|ADRA1A_ENST00000276393.4_Silent_p.F298F|ADRA1A_ENST00000380581.2_Intron|ADRA1A_ENST00000380587.1_Intron|ADRA1A_ENST00000380586.1_Silent_p.F298F			P25100	ADA1D_HUMAN	adrenoceptor alpha 1A	374					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|adrenergic receptor signaling pathway (GO:0071875)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|DNA metabolic process (GO:0006259)|G-protein coupled receptor signaling pathway (GO:0007186)|multicellular organismal development (GO:0007275)|negative regulation of the force of heart contraction involved in baroreceptor response to increased systemic arterial blood pressure (GO:0001986)|norepinephrine-epinephrine vasoconstriction involved in regulation of systemic arterial blood pressure (GO:0001994)|positive regulation of cell proliferation (GO:0008284)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	alpha1-adrenergic receptor activity (GO:0004937)			breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|skin(1)	36		all_cancers(63;0.122)|Ovarian(32;2.61e-05)|all_epithelial(46;0.118)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;4.92e-10)|Colorectal(74;0.0132)|READ - Rectum adenocarcinoma(644;0.115)	Alfuzosin(DB00346)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Amphetamine(DB00182)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Clonidine(DB00575)|Dapiprazole(DB00298)|Desipramine(DB01151)|Doxazosin(DB00590)|Doxepin(DB01142)|Dronedarone(DB04855)|Droxidopa(DB06262)|Epinephrine(DB00668)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Imipramine(DB00458)|Labetalol(DB00598)|Maprotiline(DB00934)|Mephentermine(DB01365)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Mianserin(DB06148)|Midodrine(DB00211)|Mirtazapine(DB00370)|Nicardipine(DB00622)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Oxymetazoline(DB00935)|Pergolide(DB01186)|Phenoxybenzamine(DB00925)|Phenylephrine(DB00388)|Prazosin(DB00457)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Sertindole(DB06144)|Silodosin(DB06207)|Tamsulosin(DB00706)|Terazosin(DB01162)|Xylometazoline(DB06694)	TGAAATCAGGGAAGAAAGACC	0.388																																						ENST00000380573.3																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|skin(1)	36						c.(892-894)ttC>ttT		adrenoceptor alpha 1A	Alfuzosin(DB00346)|Amiodarone(DB01118)|Amphetamine(DB00182)|Benzphetamine(DB00865)|Bethanidine(DB00217)|Carvedilol(DB01136)|Dapiprazole(DB00298)|Debrisoquin(DB04840)|Dextroamphetamine(DB01576)|Doxazosin(DB00590)|Epinastine(DB00751)|Epinephrine(DB00668)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Labetalol(DB00598)|Lisdexamfetamine(DB01255)|Maprotiline(DB00934)|Mephentermine(DB01365)|Metaraminol(DB00610)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Midodrine(DB00211)|Nefazodone(DB01149)|Nicergoline(DB00699)|Nilutamide(DB00665)|Norepinephrine(DB00368)|Norgestrel(DB00506)|Oxymetazoline(DB00935)|Perphenazine(DB00850)|Phendimetrazine(DB01579)|Phenoxybenzamine(DB00925)|Phenylephrine(DB00388)|Phenylpropanolamine(DB00397)|Prazosin(DB00457)|Promazine(DB00420)|Promethazine(DB01069)|Propericiazine(DB01608)|Propiomazine(DB00777)|Pseudoephedrine(DB00852)|Risperidone(DB00734)|Sertindole(DB06144)|Tamsulosin(DB00706)|Terazosin(DB01162)|Thioridazine(DB00679)|Tolazoline(DB00797)|Trazodone(DB00656)|Trifluoperazine(DB00831)|Ziprasidone(DB00246)						38	43	41					8																	26628173		2183	4294	6477	SO:0001819	synonymous_variant	148				activation of phospholipase C activity|aging|apoptosis|calcium ion transport into cytosol|cell-cell signaling|intracellular protein kinase cascade|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of synaptic transmission, GABAergic|positive regulation of action potential|positive regulation of cardiac muscle contraction|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase C signaling cascade|positive regulation of vasoconstriction|response to drug|response to hormone stimulus|response to stress|smooth muscle contraction	integral to plasma membrane	alpha1-adrenergic receptor activity	g.chr8:26628173G>A	L31774	CCDS6052.1, CCDS6053.1, CCDS6054.1, CCDS34869.1	8p21.2	2012-08-08	2012-05-09		ENSG00000120907	ENSG00000120907		"GPCR / Class A : Adrenoceptors : alpha"	277	protein-coding gene	gene with protein product		104221	"adrenergic, alpha-1A-, receptor"	ADRA1C			Standard	NM_033303		Approved	ADRA1L1	uc003xfh.1	P35348	OTTHUMG00000099459	ENST00000519229.1:c.894C>T	8.37:g.26628173G>A						ADRA1A_ENST00000276393.4_Silent_p.F298F|ADRA1A_ENST00000380586.1_Silent_p.F298F|ADRA1A_ENST00000380587.1_Intron|ADRA1A_ENST00000519229.1_Silent_p.F298F|ADRA1A_ENST00000380581.2_Intron|ADRA1A_ENST00000380582.3_Silent_p.F298F|ADRA1A_ENST00000354550.4_Silent_p.F298F	p.F298F			P35348	ADA1A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;4.92e-10)|Colorectal(74;0.0132)|READ - Rectum adenocarcinoma(644;0.115)	3	1917	-		all_cancers(63;0.122)|Ovarian(32;2.61e-05)|all_epithelial(46;0.118)	298					Q9NPY0	Silent	SNP	ENST00000519229.1	37	c.894C>T																																																																																					0.388	ADRA1A-009	PUTATIVE	not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000376207.1	NM_033303		16	25	0	0	0	1	0	16	25					A	26628173	G	A	26628173	2	1	123	1	0	0	0	0	0	0	0	1	334	1165	41	3		3	ADRA1A	8	26628173	Silent	SNP	G	TCGA-EJ-A65J-01A-11D-A30X-08	23803940	26628173	119735849	21	6480											
TRPM3	80036	broad.mit.edu	37	chr9	73235281	73235281	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tcgcctcaagggaatatcatCctgtaattacagggaaacca	14	9	8	10	1	2	0	2	0	0	0	4	2	3	2	3	2	2	1	3	2	6	3			TCGA-EJ-A65J-01A-11D-A30X-08	TCGA-EJ-A65J-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644108d8-dcc6-4d2d-85c0-ba6ac153cc9b	6773ad95-6d11-4f51-8b2b-5cc5ef4057ea	g.chr9:73235281C>T	ENST00000377111.2	-	15	2047	c.1804G>A	c.(1804-1806)Gat>Aat	p.D602N	TRPM3_ENST00000396285.1_Splice_Site_p.D449N|TRPM3_ENST00000423814.3_Splice_Site_p.D629N|TRPM3_ENST00000360823.2_Splice_Site_p.D464N|TRPM3_ENST00000396292.4_Splice_Site_p.D474N|TRPM3_ENST00000377105.1_Splice_Site_p.D461N|TRPM3_ENST00000358082.3_Splice_Site_p.D464N|TRPM3_ENST00000396280.5_Splice_Site_p.D451N|TRPM3_ENST00000377106.1_Splice_Site_p.D474N|TRPM3_ENST00000408909.2_Splice_Site_p.D461N|TRPM3_ENST00000357533.2_Splice_Site_p.D606N|TRPM3_ENST00000377110.3_Splice_Site_p.D602N	NM_001007471.2	NP_001007472.2	Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel, subfamily M, member 3	627					calcium ion transmembrane transport (GO:0070588)|cation transport (GO:0006812)|detection of temperature stimulus (GO:0016048)|ion transmembrane transport (GO:0034220)|sensory perception of temperature stimulus (GO:0050951)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)			NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						GGAATATCATCCTGTAATTAC	0.443																																						ENST00000377110.2																			0				NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						c.e15-1		transient receptor potential cation channel, subfamily M, member 3							216	208	211					9																	73235281		2203	4300	6503	SO:0001630	splice_region_variant	80036					integral to membrane	calcium channel activity	g.chr9:73235281C>T	AB046836	CCDS6634.1, CCDS6635.1, CCDS6636.1, CCDS6637.1, CCDS43835.1, CCDS65064.1	9q21.11	2011-12-14			ENSG00000083067	ENSG00000083067		"Voltage-gated ion channels / Transient receptor potential cation channels"	17992	protein-coding gene	gene with protein product	"melastatin 2"	608961				16382100	Standard	NM_206946		Approved	KIAA1616, LTRPC3, GON-2	uc004aid.3	Q9HCF6	OTTHUMG00000019997	ENST00000377111.2:c.1804-1G>A	9.37:g.73235281C>T						TRPM3_ENST00000357533.2_Splice_Site_p.D606_splice|TRPM3_ENST00000377106.1_Splice_Site_p.D474_splice|TRPM3_ENST00000423814.3_Splice_Site_p.D629_splice|TRPM3_ENST00000377105.1_Splice_Site_p.D461_splice|TRPM3_ENST00000358082.3_Splice_Site_p.D464_splice|TRPM3_ENST00000408909.2_Splice_Site_p.D461_splice|TRPM3_ENST00000396280.5_Splice_Site_p.D451_splice|TRPM3_ENST00000377111.2_Splice_Site_p.D602_splice|TRPM3_ENST00000396285.1_Splice_Site_p.D449_splice|TRPM3_ENST00000360823.2_Splice_Site_p.D464_splice|TRPM3_ENST00000396292.4_Splice_Site_p.D474_splice	p.D602_splice	NM_001007471.2	NP_001007472.2	Q9HCF6	TRPM3_HUMAN			15	2047	-			627					A2A3F6|A9Z1Y7|Q5VW02|Q5VW03|Q5VW04|Q5W5T7|Q86SH0|Q86SH6|Q86UL0|Q86WK1|Q86WK2|Q86WK3|Q86WK4|Q86YZ9|Q86Z00|Q86Z01|Q9H0X2	Splice_Site	SNP	ENST00000377111.2	37	c.1803_splice		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.26|18.26	3.584539|3.584539	0.65992|0.65992	.|.	.|.	ENSG00000083067|ENSG00000083067	ENST00000377111;ENST00000377110;ENST00000377106;ENST00000360823;ENST00000377105;ENST00000357533;ENST00000408909;ENST00000396285;ENST00000396292;ENST00000358082;ENST00000423814|ENST00000396280	T;T;T;T;T;T;T;T;T;T;T|.	0.74315|.	-0.83;-0.83;-0.83;-0.81;-0.83;-0.81;-0.83;-0.83;-0.83;-0.81;-0.83|.	6.07|6.07	6.07|6.07	0.98685|0.98685	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.74129|0.74129	0.3676|0.3676	L|L	0.57536|0.57536	1.79|1.79	0.80722|0.80722	D|D	1|1	B;B;P;B;B;P;B;B|.	0.49358|.	0.001;0.049;0.923;0.007;0.002;0.561;0.024;0.008|.	B;B;P;B;B;B;B;B|.	0.56216|.	0.009;0.021;0.794;0.007;0.004;0.436;0.025;0.041|.	T|T	0.68420|0.68420	-0.5413|-0.5413	10|5	0.18710|.	T|.	0.47|.	-22.9681|-22.9681	20.6439|20.6439	0.99570|0.99570	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	602;602;592;606;464;461;574;449|.	Q9HCF6-2;Q9HCF6-10;Q9HCF6-4;A2A3F7;A2A3F4;G5E9G1;Q9HCF6-8;A2A3F3|.	.;.;.;.;.;.;.;.|.	N|E	602;602;474;464;461;606;461;449;474;464;629|450	ENSP00000366315:D602N;ENSP00000366314:D602N;ENSP00000366310:D474N;ENSP00000354066:D464N;ENSP00000366309:D461N;ENSP00000350140:D606N;ENSP00000386127:D461N;ENSP00000379581:D449N;ENSP00000379587:D474N;ENSP00000350791:D464N;ENSP00000389542:D629N|.	ENSP00000350140:D606N|.	D|G	-|-	1|2	0|0	TRPM3|TRPM3	72425101|72425101	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.888000|0.888000	0.51559|0.51559	7.487000|7.487000	0.81328|0.81328	2.890000|2.890000	0.99128|0.99128	0.650000|0.650000	0.86243|0.86243	GAT|GGA		0.443	TRPM3-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000214157.5	NM_206945	Missense_Mutation	55	85	0	0	0	1	0	55	85					T	73235281	C	T	73235281	5	4	123	1	0	0	0	0	0	0	1	0	16584	869	30	3	3363	3	TRPM3	9	73235281	Splice_Site	SNP	C	TCGA-EJ-A65J-01A-11D-A30X-08		73235281	67978150	22	6481											
EGR2	1959	broad.mit.edu	37	chr10	64573204	64573204	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cggccacagtagtcacaggcGaagggcttctcaccggtgtg	8	7	14	12	3	2	0	2	0	1	0	3	1	2	0	2	4	0	2	2	4	2	2	rs371997981		TCGA-EJ-A65J-01A-11D-A30X-08	TCGA-EJ-A65J-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644108d8-dcc6-4d2d-85c0-ba6ac153cc9b	6773ad95-6d11-4f51-8b2b-5cc5ef4057ea	g.chr10:64573204G>A	ENST00000242480.3	-	2	1519	c.1194C>T	c.(1192-1194)ttC>ttT	p.F398F	EGR2_ENST00000439032.1_Silent_p.F398F|EGR2_ENST00000493899.2_5'Flank|EGR2_ENST00000411732.1_Silent_p.F348F	NM_000399.3|NM_001136177.1	NP_000390.2|NP_001129649.1	P11161	EGR2_HUMAN	early growth response 2	398					brain development (GO:0007420)|brain segmentation (GO:0035284)|cell death (GO:0008219)|cellular response to cAMP (GO:0071320)|cellular response to gonadotropin stimulus (GO:0071371)|facial nerve structural organization (GO:0021612)|fat cell differentiation (GO:0045444)|learning or memory (GO:0007611)|motor neuron axon guidance (GO:0008045)|myelination (GO:0042552)|negative regulation of apoptotic process (GO:0043066)|peripheral nervous system development (GO:0007422)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein export from nucleus (GO:0006611)|protein sumoylation (GO:0016925)|regulation of neuronal synaptic plasticity (GO:0048168)|regulation of ossification (GO:0030278)|response to insulin (GO:0032868)|rhombomere 3 formation (GO:0021660)|rhombomere 5 formation (GO:0021666)|rhythmic behavior (GO:0007622)|Schwann cell differentiation (GO:0014037)|skeletal muscle cell differentiation (GO:0035914)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|ligase activity (GO:0016874)|metal ion binding (GO:0046872)|RNA polymerase II activating transcription factor binding (GO:0001102)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(13)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)	36	Prostate(12;0.0297)|all_hematologic(501;0.228)					AGTCACAGGCGAAGGGCTTCT	0.587																																						ENST00000242480.3																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(13)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)	36						c.(1192-1194)ttC>ttT		early growth response 2		G	,,,	0,4406		0,0,2203	152	142	145		1194,1194,1194,1044	-5.2	1	10		145	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	EGR2	NM_000399.3,NM_001136177.1,NM_001136178.1,NM_001136179.1	,,,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,,,	398/477,398/477,398/477,348/427	64573204	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	1959				fat cell differentiation|protein export from nucleus|transcription from RNA polymerase II promoter	cytoplasm|nucleus	chromatin binding|RNA polymerase II activating transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|ubiquitin protein ligase binding|zinc ion binding	g.chr10:64573204G>A	BC035625	CCDS7267.1, CCDS44409.1	10q21.1	2014-09-17	2009-04-23		ENSG00000122877	ENSG00000122877		"Zinc fingers, C2H2-type"	3239	protein-coding gene	gene with protein product	"Krox-20 homolog, Drosophila"	129010	"early growth response 2 (Krox-20 homolog, Drosophila)"	KROX20			Standard	NM_000399		Approved		uc001jmi.3	P11161	OTTHUMG00000018308	ENST00000242480.3:c.1194C>T	10.37:g.64573204G>A						EGR2_ENST00000439032.1_Silent_p.F398F|EGR2_ENST00000411732.1_Silent_p.F348F	p.F398F	NM_000399.3|NM_001136177.1	NP_000390.2|NP_001129649.1	P11161	EGR2_HUMAN			2	1519	-	Prostate(12;0.0297)|all_hematologic(501;0.228)		398					B2R724|B3KRD7|Q68CZ5|Q8IV26|Q9UNA6	Silent	SNP	ENST00000242480.3	37	c.1194C>T	CCDS7267.1																																																																																				0.587	EGR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048245.2	NM_000399		4	131	0	0	0	1	0	4	131					A	64573204	G	A	64573204	2	1	123	1	0	0	0	0	0	0	0	1	4972	1049	37	2		2	EGR2	10	64573204	Silent	SNP	G	TCGA-EJ-A65J-01A-11D-A30X-08		64573204	70961543	23	6482											
FRG2B	441581	broad.mit.edu	37	chr10	135438836	135438836	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtcagctgctcacaggtaaGtggagaatggatctgctgtg	9	11	14	7	0	3	1	2	0	1	1	3	3	3	2	0	3	3	4	0	3	2	1	rs199658046		TCGA-EJ-A65J-01A-11D-A30X-08	TCGA-EJ-A65J-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644108d8-dcc6-4d2d-85c0-ba6ac153cc9b	6773ad95-6d11-4f51-8b2b-5cc5ef4057ea	g.chr10:135438836G>T	ENST00000425520.1	-	4	656	c.604C>A	c.(604-606)Ctt>Att	p.L202I	FRG2B_ENST00000443774.1_Missense_Mutation_p.L203I	NM_001080998.1	NP_001074467.1	Q96QU4	FRG2B_HUMAN	FSHD region gene 2 family, member B	202						nucleus (GO:0005634)				endometrium(2)|kidney(2)|lung(14)|ovary(1)|prostate(1)	20		all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)		TCACAGGTAAGTGGAGAATGG	0.552																																						ENST00000443774.1																			0				endometrium(2)|kidney(2)|lung(14)|ovary(1)|prostate(1)	20						c.(607-609)Ctt>Att		FSHD region gene 2 family, member B							17	21	19					10																	135438836		1949	4118	6067	SO:0001583	missense	441581					nucleus		g.chr10:135438836G>T	AY744466	CCDS44502.1	10q26.3	2012-10-02			ENSG00000225899	ENSG00000225899			33518	protein-coding gene	gene with protein product						15520407	Standard	NM_001080998		Approved		uc010qvg.2	Q96QU4	OTTHUMG00000019328	ENST00000425520.1:c.604C>A	10.37:g.135438836G>T	ENSP00000401310:p.Leu202Ile					FRG2B_ENST00000425520.1_Missense_Mutation_p.L202I	p.L203I			Q96QU4	FRG2B_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)	4	656	-		all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)	202					Q5VSQ1	Missense_Mutation	SNP	ENST00000425520.1	37	c.607C>A	CCDS44502.1	.	.	.	.	.	.	.	.	.	.	.	12.58	1.979824	0.34942	.	.	ENSG00000225899	ENST00000443774;ENST00000425520	T;T	0.57595	0.39;0.39	.	.	.	.	0.262894	0.20253	N	0.096035	T	0.54398	0.1856	L	0.32530	0.975	0.09310	N	0.999998	P	0.49696	0.927	D	0.67725	0.953	T	0.43212	-0.9405	8	0.62326	D	0.03	-11.3091	.	.	.	.	202	Q96QU4	FRG2B_HUMAN	I	203;202	ENSP00000408343:L203I;ENSP00000401310:L202I	ENSP00000401310:L202I	L	-	1	0	FRG2B	135288826	0.021000	0.18746	0.445000	0.26908	0.450000	0.32258	0.308000	0.19314	0.119000	0.18210	0.121000	0.15741	CTT		0.552	FRG2B-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000467780.1	NM_001080998		4	61	1	0	0.000602214	1	0.000612421	4	61					T	135438836	G	T	135438836	3	4	123	1	0	0	0	0	1	0	0	0	6047	1029	36	5	235	5	FRG2B	10	135438836	Missense_Mutation	SNP	G	TCGA-EJ-A65J-01A-11D-A30X-08	70865632	135438836	95911	24	6483											
CDHR5	53841	broad.mit.edu	37	chr11	618812	618812	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gctggttcccatactgggggGcatcggctgagaggttcctg	5	10	16	10	1	0	1	0	1	0	1	3	2	2	1	2	6	1	5	2	6	1	3			TCGA-EJ-A65J-01A-11D-A30X-08	TCGA-EJ-A65J-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644108d8-dcc6-4d2d-85c0-ba6ac153cc9b	6773ad95-6d11-4f51-8b2b-5cc5ef4057ea	g.chr11:618812G>A	ENST00000358353.3	-	14	2069	c.1747C>T	c.(1747-1749)Ccc>Tcc	p.P583S	CDHR5_ENST00000349570.7_Intron|IRF7_ENST00000397574.2_5'Flank|IRF7_ENST00000397562.3_5'Flank|IRF7_ENST00000397570.1_5'Flank|IRF7_ENST00000330243.5_5'Flank|CDHR5_ENST00000397542.2_Missense_Mutation_p.P583S			Q9HBB8	CDHR5_HUMAN	cadherin-related family member 5	583	4 X 31 AA approximate tandem repeats.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(2)	23						ATACTGGGGGGCATCGGCTGA	0.687																																						ENST00000358353.3																			0				NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(2)	23						c.(1747-1749)Ccc>Tcc		cadherin-related family member 5							108	114	112					11																	618812		2203	4300	6503	SO:0001583	missense	53841				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr11:618812G>A	AF258675	CCDS7707.1, CCDS7708.1	11p15.5	2011-07-01	2010-01-25	2010-01-25	ENSG00000099834	ENSG00000099834		"Cadherins / Cadherin-related"	7521	protein-coding gene	gene with protein product		606839	"mucin and cadherin-like", "mucin-like protocadherin"	MUCDHL, MUPCDH		11031102, 10801787	Standard	NM_021924		Approved	FLJ20219, MU-PCDH	uc001lqj.3	Q9HBB8	OTTHUMG00000132018	ENST00000358353.3:c.1747C>T	11.37:g.618812G>A	ENSP00000351118:p.Pro583Ser					CDHR5_ENST00000397542.2_Missense_Mutation_p.P583S|CDHR5_ENST00000349570.7_Intron	p.P583S			Q9HBB8	CDHR5_HUMAN			14	2069	-			583			4 X 31 AA approximate tandem repeats.		C9J7X1|Q9H746|Q9HAU3|Q9HBB5|Q9HBB6|Q9HBB7|Q9NX86|Q9NXI9	Missense_Mutation	SNP	ENST00000358353.3	37	c.1747C>T	CCDS7707.1	.	.	.	.	.	.	.	.	.	.	G	9.859	1.195695	0.22037	.	.	ENSG00000099834	ENST00000397542;ENST00000358353	T;T	0.40225	1.04;1.04	2.81	-2.46	0.06461	.	.	.	.	.	T	0.25865	0.0630	L	0.29908	0.895	0.09310	N	1	B;B	0.28128	0.201;0.201	B;B	0.29077	0.098;0.098	T	0.25257	-1.0137	9	0.30854	T	0.27	-0.3128	5.9448	0.19213	0.0:0.3813:0.3537:0.265	.	577;583	Q9HBB8-4;Q9HBB8	.;CDHR5_HUMAN	S	583	ENSP00000380676:P583S;ENSP00000351118:P583S	ENSP00000351118:P583S	P	-	1	0	CDHR5	608812	0.000000	0.05858	0.002000	0.10522	0.058000	0.15608	-0.939000	0.03933	-0.242000	0.09667	0.555000	0.69702	CCC		0.687	CDHR5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255023.2	NM_021924		4	152	0	0	0	1	0	4	152					A	618812	G	A	618812	3	1	123	1	0	0	0	0	1	0	0	0	3122	1203	42	3	802	3	CDHR5	11	618812	Missense_Mutation	SNP	G	TCGA-EJ-A65J-01A-11D-A30X-08		618812	134387704	25	6484											
SSRP1	6749	broad.mit.edu	37	chr11	57094190	57094190	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gccgcacctcgctcctcctcCtcttctttttgctcttgttc	1	17	5	18	2	3	0	0	0	3	0	8	0	6	0	5	0	1	4	5	0	0	5			TCGA-EJ-A65J-01A-11D-A30X-08	TCGA-EJ-A65J-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644108d8-dcc6-4d2d-85c0-ba6ac153cc9b	6773ad95-6d11-4f51-8b2b-5cc5ef4057ea	g.chr11:57094190C>T	ENST00000278412.2	-	16	2311	c.2045G>A	c.(2044-2046)aGg>aAg	p.R682K	TNKS1BP1_ENST00000358252.3_5'Flank|RP11-872D17.4_ENST00000534162.1_RNA|snoU13_ENST00000459327.1_RNA	NM_003146.2	NP_003137.1	Q08945	SSRP1_HUMAN	structure specific recognition protein 1	682	Ser-rich.				DNA repair (GO:0006281)|DNA replication (GO:0006260)|gene expression (GO:0010467)|positive regulation of viral transcription (GO:0050434)|regulation of transcription, DNA-templated (GO:0006355)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|prostate(4)	23						GCTCCTCCTCCTCTTCTTTTT	0.542																																					Colon(89;1000 1340 6884 23013 41819)	ENST00000278412.2																			0				breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|prostate(4)	23						c.(2044-2046)aGg>aAg		structure specific recognition protein 1							108	108	108					11																	57094190		2201	4296	6497	SO:0001583	missense	6749				DNA repair|DNA replication|positive regulation of viral transcription|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction	chromosome|cytoplasm|nucleoplasm	DNA binding|protein binding	g.chr11:57094190C>T	M86737	CCDS7952.1	11q12	2008-02-05			ENSG00000149136	ENSG00000149136			11327	protein-coding gene	gene with protein product	"facilitates chromatin remodeling 80 kDa subunit"	604328				1372440	Standard	NM_003146		Approved	FACT80	uc001njt.3	Q08945	OTTHUMG00000167024	ENST00000278412.2:c.2045G>A	11.37:g.57094190C>T	ENSP00000278412:p.Arg682Lys					RP11-872D17.4_ENST00000534162.1_RNA	p.R682K	NM_003146.2	NP_003137.1	Q08945	SSRP1_HUMAN			16	2311	-			682			Ser-rich.		Q5BJG8	Missense_Mutation	SNP	ENST00000278412.2	37	c.2045G>A	CCDS7952.1	.	.	.	.	.	.	.	.	.	.	C	5.845	0.340045	0.11069	.	.	ENSG00000149136	ENST00000278412	D	0.92099	-2.97	5.06	4.13	0.48395	.	0.327923	0.27735	N	0.018067	T	0.72112	0.3420	N	0.00991	-1.07	0.26802	N	0.969184	B	0.02656	0.0	B	0.01281	0.0	T	0.62144	-0.6916	10	0.02654	T	1	-24.2251	8.779	0.34781	0.0:0.7674:0.1525:0.0801	.	682	Q08945	SSRP1_HUMAN	K	682	ENSP00000278412:R682K	ENSP00000278412:R682K	R	-	2	0	SSRP1	56850766	1.000000	0.71417	0.986000	0.45419	0.984000	0.73092	2.821000	0.48065	1.100000	0.41517	0.462000	0.41574	AGG		0.542	SSRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392460.1	NM_003146		32	41	0	0	0	1	0	32	41					T	57094190	C	T	57094190	3	4	123	1	0	0	0	0	1	0	0	0	15193	681	24	3	92	3	SSRP1	11	57094190	Missense_Mutation	SNP	C	TCGA-EJ-A65J-01A-11D-A30X-08	56475378	57094190	77912326	26	6485											
TAF6L	10629	broad.mit.edu	37	chr11	62554330	62554330	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacaagaaggagccggcggcAgccccggactcggtgcggaa	10	2	17	12	5	0	1	0	0	0	1	1	5	0	4	3	6	3	1	3	6	3	0			TCGA-EJ-A65J-01A-11D-A30X-08	TCGA-EJ-A65J-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644108d8-dcc6-4d2d-85c0-ba6ac153cc9b	6773ad95-6d11-4f51-8b2b-5cc5ef4057ea	g.chr11:62554330A>T	ENST00000294168.3	+	11	1632	c.1431A>T	c.(1429-1431)gcA>gcT	p.A477A	TMEM179B_ENST00000533861.1_5'Flank|TMEM179B_ENST00000333449.4_5'Flank|RP11-727F15.12_ENST00000601484.1_RNA|TMEM223_ENST00000527073.1_Intron	NM_006473.3	NP_006464.1	Q9Y6J9	TAF6L_HUMAN	TAF6-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65kDa	477					chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|DNA-templated transcription, initiation (GO:0006352)|histone H3 acetylation (GO:0043966)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	histone deacetylase complex (GO:0000118)|STAGA complex (GO:0030914)	DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)			endometrium(2)|large_intestine(5)|lung(4)|ovary(3)|prostate(1)|skin(1)	16						AGCCGGCGGCAGCCCCGGACT	0.736											OREG0021030	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000294168.3																			0				endometrium(2)|large_intestine(5)|lung(4)|ovary(3)|prostate(1)|skin(1)	16						c.(1429-1431)gcA>gcT		TAF6-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65kDa							6	8	7					11																	62554330		1944	3937	5881	SO:0001819	synonymous_variant	10629				chromatin remodeling|histone H3 acetylation|regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	histone deacetylase complex|STAGA complex	DNA binding|protein binding|transcription coactivator activity	g.chr11:62554330A>T	BC008785	CCDS8035.1	11q12.3	2008-02-01	2002-08-29		ENSG00000162227	ENSG00000162227			17305	protein-coding gene	gene with protein product		602946	"TAF6-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65 kD"			9674425	Standard	NM_006473		Approved	PAF65A	uc001nvc.3	Q9Y6J9	OTTHUMG00000167610	ENST00000294168.3:c.1431A>T	11.37:g.62554330A>T			OREG0021030	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1062	TMEM223_ENST00000527073.1_Intron	p.A477A	NM_006473.3	NP_006464.1	Q9Y6J9	TAF6L_HUMAN			11	1632	+			477					B2RAT0|Q96HA6	Silent	SNP	ENST00000294168.3	37	c.1431A>T	CCDS8035.1																																																																																				0.736	TAF6L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395352.1	NM_006473		8	9	0	0	0	1	0	8	9					T	62554330	A	T	62554330	2	4	123	1	0	0	0	0	0	0	0	1	15528	175	7	5		5	TAF6L	11	62554330	Silent	SNP	A	TCGA-EJ-A65J-01A-11D-A30X-08	5460140	62554330	72452186	27	6486											
GAB2	9846	broad.mit.edu	37	chr11	77934693	77934693	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgtcttcagaattggtgctGtccgatcggcccacaatcat	8	13	9	11	2	3	1	2	0	1	1	5	2	4	1	2	2	1	1	2	2	2	3			TCGA-EJ-A65J-01A-11D-A30X-08	TCGA-EJ-A65J-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644108d8-dcc6-4d2d-85c0-ba6ac153cc9b	6773ad95-6d11-4f51-8b2b-5cc5ef4057ea	g.chr11:77934693G>C	ENST00000361507.4	-	6	1417	c.1332C>G	c.(1330-1332)gaC>gaG	p.D444E	GAB2_ENST00000340149.2_Missense_Mutation_p.D406E	NM_080491.2	NP_536739.1	Q9UQC2	GAB2_HUMAN	GRB2-associated binding protein 2	444					cell migration (GO:0016477)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|osteoclast differentiation (GO:0030316)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell proliferation (GO:0008284)|positive regulation of mast cell degranulation (GO:0043306)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)		INTS4/GAB2(2)	NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(8)|ovary(5)|skin(1)|upper_aerodigestive_tract(1)	24	all_cancers(14;3.31e-18)|all_epithelial(13;5.3e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.58e-23)			AATTGGTGCTGTCCGATCGGC	0.488																																						ENST00000361507.4																		INTS4/GAB2(2)	0				NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(8)|ovary(5)|skin(1)|upper_aerodigestive_tract(1)	24						c.(1330-1332)gaC>gaG		GRB2-associated binding protein 2							236	239	238					11																	77934693		2200	4292	6492	SO:0001583	missense	9846				osteoclast differentiation|phosphatidylinositol-mediated signaling|positive regulation of cell proliferation|positive regulation of mast cell degranulation	cytosol|plasma membrane	phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|transmembrane receptor protein tyrosine kinase adaptor activity	g.chr11:77934693G>C	AB011143	CCDS8259.1, CCDS8260.1	11q13.4-q13.5	2013-01-10			ENSG00000033327	ENSG00000033327		"Pleckstrin homology (PH) domain containing"	14458	protein-coding gene	gene with protein product	"Grb2-associated binder 2"	606203				10391903, 10068651	Standard	NM_080491		Approved	KIAA0571	uc001ozh.3	Q9UQC2	OTTHUMG00000166673	ENST00000361507.4:c.1332C>G	11.37:g.77934693G>C	ENSP00000354952:p.Asp444Glu					GAB2_ENST00000340149.2_Missense_Mutation_p.D406E	p.D444E	NM_080491.2	NP_536739.1	Q9UQC2	GAB2_HUMAN	OV - Ovarian serous cystadenocarcinoma(8;1.58e-23)		6	1417	-	all_cancers(14;3.31e-18)|all_epithelial(13;5.3e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		444					A2RRM2|A6NEW9|A7MD36|O60317	Missense_Mutation	SNP	ENST00000361507.4	37	c.1332C>G	CCDS8259.1	.	.	.	.	.	.	.	.	.	.	G	16.42	3.117544	0.56505	.	.	ENSG00000033327	ENST00000340149;ENST00000361507	T;T	0.16324	2.35;2.35	4.97	-7.4	0.01397	.	0.193845	0.41712	U	0.000823	T	0.13756	0.0333	L	0.56769	1.78	0.41169	D	0.986154	B	0.18166	0.026	B	0.21917	0.037	T	0.32481	-0.9905	10	0.13470	T	0.59	-8.404	16.0217	0.80503	0.1254:0.1039:0.7708:0.0	.	444	Q9UQC2	GAB2_HUMAN	E	406;444	ENSP00000343959:D406E;ENSP00000354952:D444E	ENSP00000343959:D406E	D	-	3	2	GAB2	77612341	1.000000	0.71417	0.002000	0.10522	0.616000	0.37450	0.791000	0.26915	-1.433000	0.01977	-0.367000	0.07326	GAC		0.488	GAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391085.1	NM_080491		105	141	0	0	0	1	0	105	141					C	77934693	G	C	77934693	3	2	123	1	0	0	0	0	1	0	0	0	6149	1368	48	5	718	5	GAB2	11	77934693	Missense_Mutation	SNP	G	TCGA-EJ-A65J-01A-11D-A30X-08	15380363	77934693	57071823	28	6487											
ANO2	57101	broad.mit.edu	37	chr12	5853449	5853449	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgtcacacaggggacacaTggtgaaggcattctgctggt	9	10	13	9	0	2	1	1	1	1	0	2	2	2	2	0	5	1	2	0	5	1	2			TCGA-EJ-A65J-01A-11D-A30X-08	TCGA-EJ-A65J-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644108d8-dcc6-4d2d-85c0-ba6ac153cc9b	6773ad95-6d11-4f51-8b2b-5cc5ef4057ea	g.chr12:5853449T>A	ENST00000356134.5	-	13	1287	c.1216A>T	c.(1216-1218)Atg>Ttg	p.M406L	ANO2_ENST00000546188.1_Missense_Mutation_p.M406L|ANO2_ENST00000327087.8_Missense_Mutation_p.M405L	NM_001278596.1	NP_001265525.1	Q9NQ90	ANO2_HUMAN	anoctamin 2, calcium activated chloride channel	410					chloride transmembrane transport (GO:1902476)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	chloride channel complex (GO:0034707)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)			central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1)	58						AGGGGACACATGGTGAAGGCA	0.537																																						ENST00000546188.1																			0				central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1)	58						c.(1216-1218)Atg>Ttg		anoctamin 2							102	106	105					12																	5853449		2121	4243	6364	SO:0001583	missense	57101					chloride channel complex|plasma membrane	intracellular calcium activated chloride channel activity	g.chr12:5853449T>A	AJ272204	CCDS44807.1, CCDS44807.2	12p13.3	2014-04-09	2014-04-09	2008-08-28		ENSG00000047617		"Ion channels / Chloride channels : Calcium activated : Anoctamins"	1183	protein-coding gene	gene with protein product	"transmembrane protein 16B (eight membrane-spanning domains)"	610109	"chromosome 12 open reading frame 3", "transmembrane protein 16B", "anoctamin 2"	C12orf3, TMEM16B		12739008, 15067359, 24692353	Standard	NM_001278596		Approved		uc001qnm.2	Q9NQ90		ENST00000356134.5:c.1216A>T	12.37:g.5853449T>A	ENSP00000348453:p.Met406Leu					ANO2_ENST00000327087.8_Missense_Mutation_p.M405L|ANO2_ENST00000356134.5_Missense_Mutation_p.M406L	p.M406L			Q9NQ90	ANO2_HUMAN			12	1287	-			410					C4N787|Q9H847	Missense_Mutation	SNP	ENST00000356134.5	37	c.1216A>T		.	.	.	.	.	.	.	.	.	.	T	27.1	4.804511	0.90623	.	.	ENSG00000047617	ENST00000327087;ENST00000356134;ENST00000546188;ENST00000541277	T;T;T	0.69685	-0.41;-0.41;-0.42	5.25	5.25	0.73442	.	0.000000	0.85682	D	0.000000	T	0.79862	0.4519	M	0.74467	2.265	0.80722	D	1	D	0.63046	0.992	D	0.65987	0.94	T	0.80806	-0.1218	10	0.46703	T	0.11	.	14.6396	0.68714	0.0:0.0:0.0:1.0	.	405	Q9NQ90-3	.	L	405;406;406;410	ENSP00000314048:M405L;ENSP00000348453:M406L;ENSP00000440981:M406L	ENSP00000314048:M405L	M	-	1	0	ANO2	5723710	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	7.961000	0.87903	2.117000	0.64856	0.533000	0.62120	ATG		0.537	ANO2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000399019.4	NM_020373		21	36	0	0	0	1	0	21	36					A	5853449	T	A	5853449	3	1	123	1	0	0	0	0	1	0	0	0	697	1464	51	5	1843	5	ANO2	12	5853449	Missense_Mutation	SNP	T	TCGA-EJ-A65J-01A-11D-A30X-08		5853449	127998446	29	6488											
ITGA7	3679	broad.mit.edu	37	chr12	56078884	56078884	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgcccatcggggcccagctcGggatgcccgtcagcagccag	6	5	14	16	3	1	0	1	0	0	0	3	1	1	1	4	3	5	2	4	3	0	0	rs141486781		TCGA-EJ-A65J-01A-11D-A30X-08	TCGA-EJ-A65J-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644108d8-dcc6-4d2d-85c0-ba6ac153cc9b	6773ad95-6d11-4f51-8b2b-5cc5ef4057ea	g.chr12:56078884G>A	ENST00000555728.1	-	26	3532	c.3504C>T	c.(3502-3504)ccC>ccT	p.P1168P	ITGA7_ENST00000394229.2_3'UTR|ITGA7_ENST00000347027.6_Silent_p.P1118P|ITGA7_ENST00000257880.7_3'UTR|ITGA7_ENST00000394230.2_3'UTR|ITGA7_ENST00000257879.6_Silent_p.P1124P|ITGA7_ENST00000452168.2_Silent_p.P1031P|ITGA7_ENST00000553804.1_Silent_p.P1128P			Q13683	ITA7_HUMAN	integrin, alpha 7	1168	3 X 4 AA repeats of D-X-H-P.				blood vessel morphogenesis (GO:0048514)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|endodermal cell differentiation (GO:0035987)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|muscle organ development (GO:0007517)|regulation of cell shape (GO:0008360)|skeletal muscle tissue development (GO:0007519)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|integrin alpha7-beta1 complex (GO:0034677)|muscle tendon junction (GO:0005927)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)	metal ion binding (GO:0046872)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(16)|ovary(2)|prostate(2)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						GGCCCAGCTCGGGATGCCCGT	0.687																																						ENST00000257879.6																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(16)|ovary(2)|prostate(2)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						c.(3370-3372)ccC>ccT		integrin, alpha 7		G	,,	0,4402		0,0,2201	28	30	29		3384,3093,3372	-9.3	0.9	12	dbSNP_134	29	1,8597	1.2+/-3.3	0,1,4298	no	coding-synonymous,coding-synonymous,coding-synonymous	ITGA7	NM_001144996.1,NM_001144997.1,NM_002206.2	,,	0,1,6499	AA,AG,GG		0.0116,0.0,0.0077	,,	1128/1142,1031/1045,1124/1138	56078884	1,12999	2201	4299	6500	SO:0001819	synonymous_variant	3679				cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development|regulation of cell shape	integrin complex	receptor activity	g.chr12:56078884G>A		CCDS8888.1, CCDS44914.1, CCDS55832.1	12q13	2014-09-17				ENSG00000135424		"Integrins"	6143	protein-coding gene	gene with protein product		600536				7607681	Standard	NM_002206		Approved		uc001shh.3	Q13683		ENST00000555728.1:c.3504C>T	12.37:g.56078884G>A						ITGA7_ENST00000394229.2_3'UTR|ITGA7_ENST00000257880.7_3'UTR|ITGA7_ENST00000394230.2_3'UTR|ITGA7_ENST00000555728.1_Silent_p.P1168P|ITGA7_ENST00000452168.2_Silent_p.P1031P|ITGA7_ENST00000347027.6_Silent_p.P1118P|ITGA7_ENST00000553804.1_Silent_p.P1128P	p.P1124P	NM_002206.2	NP_002197.2	Q13683	ITA7_HUMAN			25	3587	-			1168					B4E3U0|C9JMD3|C9JMZ6|O43197|Q86W93|Q9NY89|Q9UET0|Q9UEV2	Silent	SNP	ENST00000555728.1	37	c.3372C>T		.	.	.	.	.	.	.	.	.	.	G	8.504	0.864955	0.17250	0.0	1.16E-4	ENSG00000135424	ENST00000557555	.	.	.	4.64	-9.27	0.00659	.	0.166790	0.23079	U	0.052174	T	0.33323	0.0859	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.37009	-0.9724	5	.	.	.	.	1.7397	0.02949	0.2744:0.1123:0.3729:0.2404	.	.	.	.	L	192	.	.	P	-	2	0	ITGA7	54365151	0.001000	0.12720	0.913000	0.36048	0.188000	0.23474	-2.064000	0.01387	-1.249000	0.02500	-1.292000	0.01352	CCG		0.687	ITGA7-014	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000410138.1	NM_002206		13	25	0	0	0	1	0	13	25					A	56078884	G	A	56078884	2	1	123	1	0	0	0	0	0	0	0	1	7881	1103	39	2		2	ITGA7	12	56078884	Silent	SNP	G	TCGA-EJ-A65J-01A-11D-A30X-08	50225435	56078884	77773011	30	6489											
AQR	9716	broad.mit.edu	37	chr15	35152284	35152284	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtatcaaatgcatgtacaTgttgtatacaaagtttgcca	13	14	7	7	0	1	0	1	0	0	0	1	0	1	0	1	0	4	6	1	0	6	6			TCGA-EJ-A65J-01A-11D-A30X-08	TCGA-EJ-A65J-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644108d8-dcc6-4d2d-85c0-ba6ac153cc9b	6773ad95-6d11-4f51-8b2b-5cc5ef4057ea	g.chr15:35152284T>A	ENST00000156471.5	-	34	4327	c.4102A>T	c.(4102-4104)Atg>Ttg	p.M1368L		NM_014691.2	NP_055506.1	O60306	AQR_HUMAN	aquarius intron-binding spliceosomal factor	1368					mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(10)|lung(18)|ovary(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	57		Lung NSC(122;8.7e-10)|all_lung(180;1.47e-08)		all cancers(64;4.34e-18)|GBM - Glioblastoma multiforme(113;4.59e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0283)		TGCATGTACATGTTGTATACA	0.313																																						ENST00000156471.5																			0				breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(10)|lung(18)|ovary(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	57						c.(4102-4104)Atg>Ttg		aquarius intron-binding spliceosomal factor							163	148	153					15																	35152284		1806	4071	5877	SO:0001583	missense	9716					catalytic step 2 spliceosome	RNA binding	g.chr15:35152284T>A	AB011132	CCDS42013.1	15q13	2013-09-12	2013-09-12			ENSG00000021776			29513	protein-coding gene	gene with protein product	"functional spliceosome-associated protein 164"	610548	"aquarius homolog (mouse)"			9626505, 16949364	Standard	NM_014691		Approved	KIAA0560, fSAP164, IBP160	uc001ziv.3	O60306		ENST00000156471.5:c.4102A>T	15.37:g.35152284T>A	ENSP00000156471:p.Met1368Leu						p.M1368L	NM_014691.2	NP_055506.1	O60306	AQR_HUMAN		all cancers(64;4.34e-18)|GBM - Glioblastoma multiforme(113;4.59e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0283)	34	4327	-		Lung NSC(122;8.7e-10)|all_lung(180;1.47e-08)	1368					A0JP17|A5YKK3|Q2YDX9|Q6IRU8|Q6PIC8	Missense_Mutation	SNP	ENST00000156471.5	37	c.4102A>T	CCDS42013.1	.	.	.	.	.	.	.	.	.	.	T	16.34	3.095231	0.56075	.	.	ENSG00000021776	ENST00000543879	.	.	.	5.68	5.68	0.88126	.	0.036797	0.85682	D	0.000000	T	0.56731	0.2005	L	0.50919	1.6	0.40232	D	0.97785	B	0.06786	0.001	B	0.04013	0.001	T	0.53380	-0.8447	9	0.21540	T	0.41	-15.3246	15.9835	0.80130	0.0:0.0:0.0:1.0	.	1368	O60306	AQR_HUMAN	L	1368	.	ENSP00000445700:M1368L	M	-	1	0	AQR	32939576	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.768000	0.85345	2.185000	0.69588	0.529000	0.55759	ATG		0.313	AQR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417526.2	NM_014691		21	36	0	0	0	1	0	21	36					A	35152284	T	A	35152284	3	1	123	1	0	0	0	0	1	0	0	0	835	1464	51	5	363	5	AQR	15	35152284	Missense_Mutation	SNP	T	TCGA-EJ-A65J-01A-11D-A30X-08		35152284	67379108	31	6490											
SQRDL	58472	broad.mit.edu	37	chr15	45968454	45968454	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	attgaagtccgagccgataaAcaagaggctgtatttgagaa	15	9	11	6	2	0	3	0	2	0	2	1	6	1	3	2	1	2	2	2	1	6	4			TCGA-EJ-A65J-01A-11D-A30X-08	TCGA-EJ-A65J-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644108d8-dcc6-4d2d-85c0-ba6ac153cc9b	6773ad95-6d11-4f51-8b2b-5cc5ef4057ea	g.chr15:45968454A>G	ENST00000260324.7	+	6	1196	c.810A>G	c.(808-810)aaA>aaG	p.K270K	SQRDL_ENST00000568606.1_Silent_p.K270K|RP11-96O20.4_ENST00000564080.1_Silent_p.K270K	NM_021199.3	NP_067022.1	Q9Y6N5	SQRD_HUMAN	sulfide quinone reductase-like (yeast)	270					cellular nitrogen compound metabolic process (GO:0034641)|small molecule metabolic process (GO:0044281)|sulfide oxidation, using sulfide:quinone oxidoreductase (GO:0070221)|sulfur amino acid catabolic process (GO:0000098)|sulfur amino acid metabolic process (GO:0000096)	mitochondrial inner membrane (GO:0005743)	sulfide:quinone oxidoreductase activity (GO:0070224)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)	11		Lung NSC(122;0.000117)|all_lung(180;0.000737)|Melanoma(134;0.0417)		all cancers(107;5.89e-18)|GBM - Glioblastoma multiforme(94;1.21e-06)|COAD - Colon adenocarcinoma(120;0.17)|Colorectal(133;0.188)		GAGCCGATAAACAAGAGGCTG	0.483																																						ENST00000260324.7																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)	11						c.(808-810)aaA>aaG		sulfide quinone reductase-like (yeast)							112	111	112					15																	45968454		2198	4297	6495	SO:0001819	synonymous_variant	58472						oxidoreductase activity	g.chr15:45968454A>G	AF042284	CCDS10127.1	15q21.1	2010-08-05			ENSG00000137767	ENSG00000137767			20390	protein-coding gene	gene with protein product						10810093, 10224084	Standard	NM_021199		Approved	CGI-44	uc001zvu.4	Q9Y6N5	OTTHUMG00000131476	ENST00000260324.7:c.810A>G	15.37:g.45968454A>G						RP11-96O20.4_ENST00000564080.1_Silent_p.K270K|SQRDL_ENST00000568606.1_Silent_p.K270K	p.K270K	NM_021199.2	NP_067022.1	Q9Y6N5	SQRD_HUMAN		all cancers(107;5.89e-18)|GBM - Glioblastoma multiforme(94;1.21e-06)|COAD - Colon adenocarcinoma(120;0.17)|Colorectal(133;0.188)	6	1196	+		Lung NSC(122;0.000117)|all_lung(180;0.000737)|Melanoma(134;0.0417)	270					Q9UQM8	Silent	SNP	ENST00000260324.7	37	c.810A>G	CCDS10127.1																																																																																				0.483	SQRDL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254319.2			49	61	0	0	0	1	0	49	61					G	45968454	A	G	45968454	2	3	123	1	0	0	0	0	0	0	0	1	15128	40	2	4		4	SQRDL	15	45968454	Silent	SNP	A	TCGA-EJ-A65J-01A-11D-A30X-08	10816170	45968454	56562938	32	6491											
IFT140	9742	broad.mit.edu	37	chr16	1570724	1570724	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	actcctcaggcaggtccgagGagtccttggccacggtcatc	7	8	12	14	2	2	0	2	0	0	0	6	2	5	1	4	5	0	1	4	5	0	1			TCGA-EJ-A65J-01A-11D-A30X-08	TCGA-EJ-A65J-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644108d8-dcc6-4d2d-85c0-ba6ac153cc9b	6773ad95-6d11-4f51-8b2b-5cc5ef4057ea	g.chr16:1570724G>A	ENST00000426508.2	-	27	3902	c.3539C>T	c.(3538-3540)tCc>tTc	p.S1180F	IFT140_ENST00000361339.5_Missense_Mutation_p.S374F	NM_014714.3	NP_055529.2	Q96RY7	IF140_HUMAN	intraflagellar transport 140	1180					cilium assembly (GO:0042384)|intraciliary retrograde transport (GO:0035721)|protein localization to cilium (GO:0061512)|regulation of cilium assembly (GO:1902017)|renal system development (GO:0072001)|retina development in camera-type eye (GO:0060041)|skeletal system morphogenesis (GO:0048705)	axoneme (GO:0005930)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|intraciliary transport particle A (GO:0030991)|photoreceptor connecting cilium (GO:0032391)				breast(1)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(12)|lung(10)|ovary(5)|pancreas(1)|prostate(4)|skin(4)|stomach(2)|urinary_tract(1)	53		Hepatocellular(780;0.219)				CAGGTCCGAGGAGTCCTTGGC	0.612																																						ENST00000426508.2																			0				breast(1)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(12)|lung(10)|ovary(5)|pancreas(1)|prostate(4)|skin(4)|stomach(2)|urinary_tract(1)	53						c.(3538-3540)tCc>tTc		intraflagellar transport 140 homolog (Chlamydomonas)							34	32	32					16																	1570724		2199	4300	6499	SO:0001583	missense	9742							g.chr16:1570724G>A	AB011162	CCDS10439.1	16p13.3	2014-07-03	2014-07-03	2005-11-02	ENSG00000187535	ENSG00000187535		"Intraflagellar transport homologs", "WD repeat domain containing"	29077	protein-coding gene	gene with protein product		614620	"WD and tetratricopeptide repeats 2", "intraflagellar transport 140 homolog (Chlamydomonas)"	WDTC2		9628581	Standard	NM_014714		Approved	gs114, KIAA0590	uc002cmb.3	Q96RY7	OTTHUMG00000128585	ENST00000426508.2:c.3539C>T	16.37:g.1570724G>A	ENSP00000406012:p.Ser1180Phe					IFT140_ENST00000361339.5_Missense_Mutation_p.S374F	p.S1180F	NM_014714.3	NP_055529.2	Q96RY7	IF140_HUMAN			27	3902	-		Hepatocellular(780;0.219)	1180					A2A2A8|D3DU75|O60332|Q9UG52	Missense_Mutation	SNP	ENST00000426508.2	37	c.3539C>T	CCDS10439.1	.	.	.	.	.	.	.	.	.	.	G	14.91	2.676155	0.47886	.	.	ENSG00000187535	ENST00000397417;ENST00000361339;ENST00000426508	T;T	0.44482	0.92;0.92	5.78	1.47	0.22746	.	0.132019	0.53938	D	0.000052	T	0.50480	0.1618	M	0.68317	2.08	0.53688	D	0.999979	P;P	0.42993	0.734;0.797	B;P	0.46253	0.316;0.509	T	0.60182	-0.7313	10	0.54805	T	0.06	.	18.7943	0.91988	0.0:0.4963:0.5037:0.0	.	1180;867	Q96RY7;B4DR58	IF140_HUMAN;.	F	1180;374;1180	ENSP00000354895:S374F;ENSP00000406012:S1180F	ENSP00000354895:S374F	S	-	2	0	IFT140	1510725	1.000000	0.71417	0.182000	0.23118	0.635000	0.38103	4.628000	0.61282	0.122000	0.18314	-0.175000	0.13238	TCC		0.612	IFT140-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250438.2	NM_014714		7	19	0	0	0	1	0	7	19					A	1570724	G	A	1570724	3	1	123	1	0	0	0	0	1	0	0	0	7556	1174	41	3	869	3	IFT140	16	1570724	Missense_Mutation	SNP	G	TCGA-EJ-A65J-01A-11D-A30X-08		1570724	88784029	33	6492											
LONP2	83752	broad.mit.edu	37	chr16	48295427	48295427	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gataatgatgacattgtcatGctagagaaaaaaatacgaac	19	9	8	5	1	1	3	1	2	0	1	1	6	1	3	0	0	3	1	0	0	7	4			TCGA-EJ-A65J-01A-11D-A30X-08	TCGA-EJ-A65J-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644108d8-dcc6-4d2d-85c0-ba6ac153cc9b	6773ad95-6d11-4f51-8b2b-5cc5ef4057ea	g.chr16:48295427G>T	ENST00000285737.4	+	5	909	c.816G>T	c.(814-816)atG>atT	p.M272I	LONP2_ENST00000535754.1_Missense_Mutation_p.M228I	NM_031490.2	NP_113678.2			lon peptidase 2, peroxisomal											breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						ACATTGTCATGCTAGAGAAAA	0.338																																						ENST00000285737.4																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						c.(814-816)atG>atT		lon peptidase 2, peroxisomal							139	138	138					16																	48295427		2200	4300	6500	SO:0001583	missense	83752				misfolded or incompletely synthesized protein catabolic process|protein targeting to peroxisome|signal peptide processing	nucleoid|peroxisomal matrix	ATP binding|ATP-dependent peptidase activity|enzyme binding|sequence-specific DNA binding|serine-type endopeptidase activity	g.chr16:48295427G>T	AJ548761	CCDS10734.1, CCDS73880.1	16q12.1	2010-04-21			ENSG00000102910	ENSG00000102910		"ATPases / AAA-type"	20598	protein-coding gene	gene with protein product						14561759	Standard	XM_005256191		Approved	MGC4840, LONP, LONPL	uc002efi.1	Q86WA8	OTTHUMG00000133144	ENST00000285737.4:c.816G>T	16.37:g.48295427G>T	ENSP00000285737:p.Met272Ile					LONP2_ENST00000535754.1_Missense_Mutation_p.M228I	p.M272I	NM_031490.2	NP_113678.2	Q86WA8	LONP2_HUMAN			5	909	+			272						Missense_Mutation	SNP	ENST00000285737.4	37	c.816G>T	CCDS10734.1	.	.	.	.	.	.	.	.	.	.	G	12.50	1.957656	0.34565	.	.	ENSG00000102910	ENST00000285737;ENST00000544734;ENST00000535754;ENST00000416006	T;T	0.28895	1.6;1.59	5.88	5.88	0.94601	.	0.419248	0.31472	N	0.007599	T	0.15565	0.0375	N	0.04508	-0.205	0.33561	D	0.597404	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.09100	-1.0690	10	0.62326	D	0.03	-26.1401	10.2936	0.43610	0.0712:0.2105:0.7183:0.0	.	228;272	B7ZKL7;Q86WA8	.;LONP2_HUMAN	I	272;1;228;228	ENSP00000285737:M272I;ENSP00000445426:M228I	ENSP00000285737:M272I	M	+	3	0	LONP2	46852928	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	2.820000	0.48057	2.789000	0.95967	0.591000	0.81541	ATG		0.338	LONP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256839.2	NM_031490		32	45	1	0	1.99505e-19	1	2.10005e-19	32	45					T	48295427	G	T	48295427	3	4	123	1	0	0	0	0	1	0	0	0	8893	1319	46	5	834	5	LONP2	16	48295427	Missense_Mutation	SNP	G	TCGA-EJ-A65J-01A-11D-A30X-08	46724703	48295427	42059326	34	6493											
ZFHX3	463	broad.mit.edu	37	chr16	72830880	72830881	+	Frame_Shift_Ins	INS	-	-	CT																															tccttcggaccggtgttgccINSctctcccccctcggcgctgt																										TCGA-EJ-A65J-01A-11D-A30X-08	TCGA-EJ-A65J-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644108d8-dcc6-4d2d-85c0-ba6ac153cc9b	6773ad95-6d11-4f51-8b2b-5cc5ef4057ea	g.chr16:72830880_72830881insCT	ENST00000268489.5	-	9	6372_6373	c.5700_5701insAG	c.(5698-5703)gagggcfs	p.G1901fs	ZFHX3_ENST00000397992.5_Frame_Shift_Ins_p.G987fs	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	1901					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|muscle organ development (GO:0007517)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of myoblast differentiation (GO:0045663)|regulation of neuron differentiation (GO:0045664)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	enzyme binding (GO:0019899)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				CCGGTGTTGCCCTCTCCCCCCT	0.545																																						ENST00000268489.5																			0				NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153						c.(5698-5703)gagcaafs		zinc finger homeobox 3																																				SO:0001589	frameshift_variant	463				muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr16:72830880_72830881insCT	D10250	CCDS10908.1, CCDS54035.1	16q22.3	2012-03-09	2007-08-09	2007-08-09	ENSG00000140836	ENSG00000140836		"Zinc fingers, C2H2-type", "Homeoboxes / ZF class"	777	protein-coding gene	gene with protein product		104155	"AT-binding transcription factor 1"	ATBF1		1719379, 7592926	Standard	NM_006885		Approved	ZNF927	uc002fck.3	Q15911	OTTHUMG00000137599	ENST00000268489.5:c.5699_5700dupAG	16.37:g.72830883_72830884dupCT	ENSP00000268489:p.Gly1901fs					ZFHX3_ENST00000397992.5_Frame_Shift_Ins_p.Q987fs	p.Q1901fs	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN			9	6372_6373	-		Ovarian(137;0.13)	1901					D3DWS8|O15101|Q13719	Frame_Shift_Ins	INS	ENST00000268489.5	37	c.5700_5701insAG	CCDS10908.1																																																																																				0.545	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269008.1	NM_006885		16	32						16	32	---	---	---	---	CT	72830881	-	CT	72830880	7	5	123	1	0	1	1	0	0	0	0	0	17631	623	22	0	5418	0	ZFHX3	16	72830880	Frame_Shift_Ins	INS	-	TCGA-EJ-A65J-01A-11D-A30X-08	24535453	72830880	17523873	35	6494											
DHX40	79665	broad.mit.edu	37	chr17	57684397	57684397	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	atttgtaatgttttcagatgGaatatcgaaagacgtcttaa	14	15	8	4	2	2	2	1	0	1	2	3	4	2	3	0	1	0	2	0	1	5	6			TCGA-EJ-A65J-01A-11D-A30X-08	TCGA-EJ-A65J-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644108d8-dcc6-4d2d-85c0-ba6ac153cc9b	6773ad95-6d11-4f51-8b2b-5cc5ef4057ea	g.chr17:57684397G>C	ENST00000251241.4	+	18	2351	c.2204G>C	c.(2203-2205)gGa>gCa	p.G735A	DHX40_ENST00000425628.3_Missense_Mutation_p.G658A|DHX40_ENST00000451169.2_Missense_Mutation_p.G687A	NM_024612.4	NP_078888.4	Q8IX18	DHX40_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 40	735							ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|nucleic acid binding (GO:0003676)			endometrium(7)|large_intestine(6)|lung(6)|prostate(1)	20	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)					TTTTCAGATGGAATATCGAAA	0.358																																						ENST00000451169.2																			0				endometrium(7)|large_intestine(6)|lung(6)|prostate(1)	20						c.(2059-2061)gGa>gCa		DEAH (Asp-Glu-Ala-His) box polypeptide 40							57	61	59					17																	57684397		2203	4300	6503	SO:0001583	missense	79665						ATP binding|ATP-dependent helicase activity|nucleic acid binding	g.chr17:57684397G>C	AF260270	CCDS11617.1, CCDS54150.1	17q22	2014-01-28	2003-06-13	2003-06-20		ENSG00000108406		"DEAH-boxes"	18018	protein-coding gene	gene with protein product		607570	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 40 (RNA helicase)"	DDX40			Standard	NM_024612		Approved	ARG147, PAD, FLJ22060	uc002ixn.2	Q8IX18		ENST00000251241.4:c.2204G>C	17.37:g.57684397G>C	ENSP00000251241:p.Gly735Ala					DHX40_ENST00000251241.4_Missense_Mutation_p.G735A|DHX40_ENST00000425628.3_Missense_Mutation_p.G658A	p.G687A			Q8IX18	DHX40_HUMAN			21	2419	+	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		735					B3KTJ5|C9JR60|Q5JPH4|Q8TC86|Q8WY53|Q9BXM1|Q9H6M9	Missense_Mutation	SNP	ENST00000251241.4	37	c.2060G>C	CCDS11617.1	.	.	.	.	.	.	.	.	.	.	G	7.383	0.629233	0.14257	.	.	ENSG00000108406	ENST00000251241;ENST00000538926;ENST00000451169	T;T	0.03607	4.23;3.87	5.66	2.59	0.31030	.	0.366272	0.31092	N	0.008277	T	0.01905	0.0060	N	0.08118	0	0.44061	D	0.996803	B;B	0.14805	0.002;0.011	B;B	0.08055	0.003;0.003	T	0.49390	-0.8945	10	0.10111	T	0.7	.	10.4247	0.44371	0.2069:0.0:0.7931:0.0	.	658;735	F5H625;Q8IX18	.;DHX40_HUMAN	A	735;658;687	ENSP00000251241:G735A;ENSP00000396039:G687A	ENSP00000251241:G735A	G	+	2	0	DHX40	55039179	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.057000	0.30492	1.401000	0.46761	0.561000	0.74099	GGA		0.358	DHX40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446095.1	NM_024612		11	12	0	0	0	1	0	11	12					C	57684397	G	C	57684397	3	2	123	1	0	0	0	0	1	0	0	0	4512	1174	41	5	2274	5	DHX40	17	57684397	Missense_Mutation	SNP	G	TCGA-EJ-A65J-01A-11D-A30X-08		57684397	23510813	36	6495											
NPLOC4	55666	broad.mit.edu	37	chr17	79536065	79536065	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgtctcacccaatacatcccGgttttcaataggaaatggat	12	12	7	10	1	2	0	2	0	1	0	4	2	3	2	2	3	1	1	2	3	5	4			TCGA-EJ-A65J-01A-11D-A30X-08	TCGA-EJ-A65J-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644108d8-dcc6-4d2d-85c0-ba6ac153cc9b	6773ad95-6d11-4f51-8b2b-5cc5ef4057ea	g.chr17:79536065G>A	ENST00000331134.6	-	14	1641	c.1426C>T	c.(1426-1428)Cgg>Tgg	p.R476W	NPLOC4_ENST00000573876.1_5'Flank|NPLOC4_ENST00000374747.5_Missense_Mutation_p.R476W|NPLOC4_ENST00000572760.1_5'Flank|NPLOC4_ENST00000539314.1_Missense_Mutation_p.R315W	NM_017921.2	NP_060391.2	Q8TAT6	NPL4_HUMAN	nuclear protein localization 4 homolog (S. cerevisiae)	476					ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|Golgi organization (GO:0007030)|membrane fusion (GO:0061025)	endoplasmic reticulum (GO:0005783)|nuclear outer membrane-endoplasmic reticulum membrane network (GO:0042175)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)	11	all_neural(118;0.0878)|Melanoma(429;0.242)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0739)			AATACATCCCGGTTTTCAATA	0.358																																						ENST00000374747.5																			0				central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)	11						c.(1426-1428)Cgg>Tgg		nuclear protein localization 4 homolog (S. cerevisiae)							96	94	95					17																	79536065		1858	4096	5954	SO:0001583	missense	55666				cellular membrane fusion|ER-associated protein catabolic process|Golgi organization	cytosol|endoplasmic reticulum|nuclear outer membrane-endoplasmic reticulum membrane network|nucleus	zinc ion binding	g.chr17:79536065G>A	AB040932	CCDS45812.1	17q25.3	2012-09-20			ENSG00000182446	ENSG00000182446			18261	protein-coding gene	gene with protein product		606590				11574150, 10811609	Standard	NM_017921		Approved	NPL4, FLJ20657, KIAA1499	uc002kas.3	Q8TAT6	OTTHUMG00000177990	ENST00000331134.6:c.1426C>T	17.37:g.79536065G>A	ENSP00000331487:p.Arg476Trp					NPLOC4_ENST00000539314.1_Missense_Mutation_p.R315W|NPLOC4_ENST00000331134.6_Missense_Mutation_p.R476W	p.R476W			Q8TAT6	NPL4_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0739)		14	1555	-	all_neural(118;0.0878)|Melanoma(429;0.242)|all_lung(278;0.246)		476					Q8N3J1|Q9H8V2|Q9H964|Q9NWR5|Q9P229	Missense_Mutation	SNP	ENST00000331134.6	37	c.1426C>T	CCDS45812.1	.	.	.	.	.	.	.	.	.	.	G	18.78	3.697432	0.68386	.	.	ENSG00000182446	ENST00000331134;ENST00000374747;ENST00000539314	.	.	.	5.63	5.63	0.86233	Nuclear pore localisation protein NPL4 (1);	0.058428	0.64402	D	0.000001	D	0.83524	0.5273	H	0.95151	3.63	0.80722	D	1	P;P;B	0.47191	0.891;0.491;0.21	P;B;B	0.50352	0.638;0.135;0.089	D	0.88326	0.2965	9	0.87932	D	0	-29.5743	18.4563	0.90721	0.0:0.0:1.0:0.0	.	315;476;476	B4DG89;Q8TAT6-2;Q8TAT6	.;.;NPL4_HUMAN	W	476;475;315	.	ENSP00000331487:R476W	R	-	1	2	NPLOC4	77146502	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.061000	0.76699	2.665000	0.90641	0.563000	0.77884	CGG		0.358	NPLOC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440140.1			12	30	0	0	0	1	0	12	30					A	79536065	G	A	79536065	3	1	123	1	0	0	0	0	1	0	0	0	10586	1115	39	2	416	2	NPLOC4	17	79536065	Missense_Mutation	SNP	G	TCGA-EJ-A65J-01A-11D-A30X-08	21851668	79536065	1659145	37	6496											
PLIN5	440503	broad.mit.edu	37	chr19	4523867	4523867	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcagctcgtccacgcaggcGtgcgcgtgggccacgcgacc	6	4	15	16	7	0	0	0	0	0	0	2	1	1	0	3	2	3	3	3	2	0	0			TCGA-EJ-A65J-01A-11D-A30X-08	TCGA-EJ-A65J-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644108d8-dcc6-4d2d-85c0-ba6ac153cc9b	6773ad95-6d11-4f51-8b2b-5cc5ef4057ea	g.chr19:4523867G>A	ENST00000381848.3	-	8	1145	c.1065C>T	c.(1063-1065)caC>caT	p.H355H		NM_001013706.2	NP_001013728.2	Q00G26	PLIN5_HUMAN	perilipin 5	355	Interaction with PNPLA2 and ABHD5. {ECO:0000250}.				lipid particle organization (GO:0034389)|lipid storage (GO:0019915)|mitochondrion localization (GO:0051646)|negative regulation of fatty acid beta-oxidation (GO:0031999)|negative regulation of lipase activity (GO:0060192)|negative regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035359)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of triglyceride catabolic process (GO:0010897)|positive regulation of fatty acid beta-oxidation (GO:0032000)|positive regulation of lipase activity (GO:0060193)|positive regulation of lipid storage (GO:0010884)|positive regulation of sequestering of triglyceride (GO:0010890)|positive regulation of triglyceride biosynthetic process (GO:0010867)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|lipid particle (GO:0005811)|mitochondrion (GO:0005739)				endometrium(4)|lung(3)|skin(2)|upper_aerodigestive_tract(1)	10						CCACGCAGGCGTGCGCGTGGG	0.741																																						ENST00000381848.3																			0				endometrium(4)|lung(3)|skin(2)|upper_aerodigestive_tract(1)	10						c.(1063-1065)caC>caT		perilipin 5																																				SO:0001819	synonymous_variant	440503					lipid particle		g.chr19:4523867G>A	DQ839131	CCDS42473.1	19p13.3	2009-08-12			ENSG00000214456	ENSG00000214456		"Perilipins"	33196	protein-coding gene	gene with protein product	"lipid storage droplet protein 5"	613248				17234449, 19638644	Standard	NM_001013706		Approved	LSDP5, LSDA5, OXPAT, MLDP	uc002mas.3	Q00G26		ENST00000381848.3:c.1065C>T	19.37:g.4523867G>A							p.H355H	NM_001013706.2	NP_001013728.2	Q00G26	PLIN5_HUMAN			8	1145	-			355					A2RRC1|Q6ZS68	Silent	SNP	ENST00000381848.3	37	c.1065C>T	CCDS42473.1																																																																																				0.741	PLIN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458647.1	NM_001013706		11	17	0	0	0	1	0	11	17					A	4523867	G	A	4523867	2	1	123	1	0	0	0	0	0	0	0	1	12093	1136	40	1		1	PLIN5	19	4523867	Silent	SNP	G	TCGA-EJ-A65J-01A-11D-A30X-08		4523867	54605116	38	6497											
ZNF563	147837	broad.mit.edu	37	chr19	12430640	12430640	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttcactgaatctctctaccaTatgacatctgtaaaaaatga	15	13	4	9	0	4	3	1	3	3	0	5	3	4	3	1	0	1	1	1	0	6	4	rs367747553	byFrequency	TCGA-EJ-A65J-01A-11D-A30X-08	TCGA-EJ-A65J-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644108d8-dcc6-4d2d-85c0-ba6ac153cc9b	6773ad95-6d11-4f51-8b2b-5cc5ef4057ea	g.chr19:12430640T>G	ENST00000293725.5	-	4	404	c.199A>C	c.(199-201)Atg>Ctg	p.M67L	ZNF563_ENST00000595977.1_Missense_Mutation_p.M67L	NM_145276.2	NP_660319.1	Q8TA94	ZN563_HUMAN	zinc finger protein 563	67	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						CTCTCTACCATATGACATCTG	0.308																																					GBM(39;623 795 5132 29510 31476)	ENST00000293725.5																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						c.(199-201)Atg>Ctg		zinc finger protein 563							86	88	87					19																	12430640		2202	4300	6502	SO:0001583	missense	147837				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12430640T>G	BC022523	CCDS12270.1	19p13.2	2013-09-20			ENSG00000188868	ENSG00000188868		"Zinc fingers, C2H2-type", "-"	30498	protein-coding gene	gene with protein product							Standard	NM_145276		Approved	FLJ34797	uc002mtp.3	Q8TA94	OTTHUMG00000156413	ENST00000293725.5:c.199A>C	19.37:g.12430640T>G	ENSP00000293725:p.Met67Leu					ZNF563_ENST00000595977.1_Missense_Mutation_p.M67L	p.M67L	NM_145276.2	NP_660319.1	Q8TA94	ZN563_HUMAN			4	404	-			67			KRAB.		B2R9E7|Q8NAT7	Missense_Mutation	SNP	ENST00000293725.5	37	c.199A>C	CCDS12270.1	.	.	.	.	.	.	.	.	.	.	T	4.136	0.023527	0.08006	.	.	ENSG00000188868	ENST00000293725;ENST00000318168	T	0.06528	3.29	0.724	0.724	0.18236	Krueppel-associated box (1);	.	.	.	.	T	0.02494	0.0076	N	0.04297	-0.235	0.09310	N	1	B;B	0.23990	0.095;0.002	B;B	0.18561	0.022;0.003	T	0.44452	-0.9327	9	0.34782	T	0.22	.	2.728	0.05219	0.0:0.3311:0.0:0.6689	.	67;67	Q8TA94-2;Q8TA94	.;ZN563_HUMAN	L	67	ENSP00000293725:M67L	ENSP00000293725:M67L	M	-	1	0	ZNF563	12291640	.	.	0.035000	0.18076	0.013000	0.08279	.	.	0.558000	0.29135	0.260000	0.18958	ATG		0.308	ZNF563-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344114.1	NM_145276		29	46	0	0	0	1	0	29	46					G	12430640	T	G	12430640	3	3	123	1	0	0	0	0	1	0	0	0	17991	1406	49	5	1235	5	ZNF563	19	12430640	Missense_Mutation	SNP	T	TCGA-EJ-A65J-01A-11D-A30X-08	7906773	12430640	46698343	39	6498											
ZNF536	9745	broad.mit.edu	37	chr19	30934878	30934878	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acccgtgcccactctgcggcAagcgcttccgcttcaacagc	7	7	9	18	4	2	0	1	0	1	0	3	0	3	0	3	1	5	3	3	1	2	2			TCGA-EJ-A65J-01A-11D-A30X-08	TCGA-EJ-A65J-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644108d8-dcc6-4d2d-85c0-ba6ac153cc9b	6773ad95-6d11-4f51-8b2b-5cc5ef4057ea	g.chr19:30934878A>G	ENST00000355537.3	+	2	556	c.409A>G	c.(409-411)Aag>Gag	p.K137E		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	137					negative regulation of neuron differentiation (GO:0045665)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|retinoic acid-responsive element binding (GO:0044323)			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					ACTCTGCGGCAAGCGCTTCCG	0.632																																						ENST00000355537.3																			0				NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182						c.(409-411)Aag>Gag		zinc finger protein 536							67	55	59					19																	30934878		2203	4300	6503	SO:0001583	missense	9745				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	g.chr19:30934878A>G		CCDS32984.1	19q13.11	2013-01-08				ENSG00000198597		"Zinc fingers, C2H2-type"	29025	protein-coding gene	gene with protein product						9205841	Standard	XM_005259445		Approved	KIAA0390	uc002nsu.1	O15090		ENST00000355537.3:c.409A>G	19.37:g.30934878A>G	ENSP00000347730:p.Lys137Glu						p.K137E	NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN			2	556	+	Esophageal squamous(110;0.0834)		137					A2RU18	Missense_Mutation	SNP	ENST00000355537.3	37	c.409A>G	CCDS32984.1	.	.	.	.	.	.	.	.	.	.	A	17.16	3.318246	0.60524	.	.	ENSG00000198597	ENST00000355537	T	0.07567	3.18	5.52	5.52	0.82312	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.20088	0.0483	L	0.32530	0.975	0.51012	D	0.999909	D;D	0.76494	0.999;0.997	D;D	0.79784	0.957;0.993	T	0.00842	-1.1544	10	0.87932	D	0	-32.4923	15.6506	0.77088	1.0:0.0:0.0:0.0	.	137;137	A7E228;O15090	.;ZN536_HUMAN	E	137	ENSP00000347730:K137E	ENSP00000347730:K137E	K	+	1	0	ZNF536	35626718	1.000000	0.71417	1.000000	0.80357	0.655000	0.38815	9.332000	0.96446	2.109000	0.64355	0.379000	0.24179	AAG		0.632	ZNF536-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459667.2	NM_014717		10	48	0	0	0	1	0	10	48					G	30934878	A	G	30934878	3	3	123	1	0	0	0	0	1	0	0	0	17971	131	5	4	411	4	ZNF536	19	30934878	Missense_Mutation	SNP	A	TCGA-EJ-A65J-01A-11D-A30X-08	18504238	30934878	28194105	40	6499											
LSR	51599	broad.mit.edu	37	chr19	35753475	35753475	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttcgtggttgtggtatgcCtggctgccttcctcatcttc	2	17	10	12	1	3	0	1	0	2	0	6	0	4	0	3	3	2	3	3	3	1	5			TCGA-EJ-A65J-01A-11D-A30X-08	TCGA-EJ-A65J-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644108d8-dcc6-4d2d-85c0-ba6ac153cc9b	6773ad95-6d11-4f51-8b2b-5cc5ef4057ea	g.chr19:35753475C>T	ENST00000361790.3	+	5	961	c.802C>T	c.(802-804)Ctg>Ttg	p.L268L	LSR_ENST00000602122.1_Silent_p.L249L|AD000684.2_ENST00000602262.1_RNA|LSR_ENST00000597933.1_3'UTR|LSR_ENST00000354900.3_Silent_p.L249L|LSR_ENST00000427250.1_Intron|LSR_ENST00000347609.4_Silent_p.L231L|LSR_ENST00000360798.3_Intron	NM_205834.3	NP_991403.1	Q86X29	LSR_HUMAN	lipolysis stimulated lipoprotein receptor	268					embryo development (GO:0009790)|liver development (GO:0001889)	chylomicron (GO:0042627)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|low-density lipoprotein particle (GO:0034362)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	13	all_lung(56;3.91e-09)|Lung NSC(56;5.64e-09)|Esophageal squamous(110;0.162)		Epithelial(14;1.33e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.29e-18)|all cancers(14;7.11e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417)			TGTGGTATGCCTGGCTGCCTT	0.622																																						ENST00000602122.1																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	13						c.(745-747)Ctg>Ttg		lipolysis stimulated lipoprotein receptor							156	125	136					19																	35753475		2203	4300	6503	SO:0001819	synonymous_variant	51599				embryo development|liver development	chylomicron|integral to membrane|low-density lipoprotein particle|plasma membrane|very-low-density lipoprotein particle	receptor activity	g.chr19:35753475C>T	AF130366	CCDS12449.1, CCDS12450.1, CCDS12451.1, CCDS59376.1	19q13.12	2013-01-11			ENSG00000105699	ENSG00000105699		"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	29572	protein-coding gene	gene with protein product	"lipolysis-stimulated remnant", "immunoglobulin-like domain containing receptor 3"					10224102	Standard	NM_015925		Approved	LISCH7, ILDR3	uc002nyl.3	Q86X29		ENST00000361790.3:c.802C>T	19.37:g.35753475C>T						LSR_ENST00000427250.1_Intron|LSR_ENST00000361790.3_Silent_p.L268L|LSR_ENST00000360798.3_Intron|LSR_ENST00000354900.3_Silent_p.L249L|LSR_ENST00000347609.4_Silent_p.L231L|LSR_ENST00000597933.1_3'UTR	p.L249L			Q86X29	LSR_HUMAN	Epithelial(14;1.33e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.29e-18)|all cancers(14;7.11e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417)		4	1232	+	all_lung(56;3.91e-09)|Lung NSC(56;5.64e-09)|Esophageal squamous(110;0.162)		268					A6NDW3|B4DKL4|E9PHD4|O00112|O00426|Q6ZT80|Q8NBM0|Q9BT33|Q9UQL3	Silent	SNP	ENST00000361790.3	37	c.745C>T	CCDS12450.1																																																																																				0.622	LSR-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465513.2	NM_015925		23	80	0	0	0	1	0	23	80					T	35753475	C	T	35753475	2	4	123	1	0	0	0	0	0	0	0	1	9064	680	24	3		3	LSR	19	35753475	Silent	SNP	C	TCGA-EJ-A65J-01A-11D-A30X-08	4818597	35753475	23375508	41	6500											
IRGQ	126298	broad.mit.edu	37	chr19	44099419	44099419	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tccttgtcgcacagcgctgcGatcagcgcggacttccccaa	7	8	10	16	5	1	0	1	0	0	0	4	2	3	1	3	1	3	2	3	1	1	2			TCGA-EJ-A65J-01A-11D-A30X-08	TCGA-EJ-A65J-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644108d8-dcc6-4d2d-85c0-ba6ac153cc9b	6773ad95-6d11-4f51-8b2b-5cc5ef4057ea	g.chr19:44099419G>A	ENST00000602269.1	-	1	257	c.72C>T	c.(70-72)atC>atT	p.I24I	ZNF576_ENST00000529930.1_5'Flank|ZNF576_ENST00000391965.2_5'Flank|ZNF576_ENST00000525771.1_5'Flank|IRGQ_ENST00000422989.1_Silent_p.I24I|SRRM5_ENST00000607544.1_5'Flank|ZNF576_ENST00000533118.1_5'Flank|L34079.2_ENST00000594374.1_5'Flank|IRGQ_ENST00000601520.1_5'Flank|SRRM5_ENST00000526798.1_5'Flank|ZNF576_ENST00000336564.4_5'Flank|ZNF576_ENST00000528387.1_5'Flank			Q8WZA9	IRGQ_HUMAN	immunity-related GTPase family, Q	24										endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(3)	18		Prostate(69;0.0199)				ACAGCGCTGCGATCAGCGCGG	0.672																																						ENST00000422989.1																			0				endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(3)	18						c.(70-72)atC>atT		immunity-related GTPase family, Q							29	27	27					19																	44099419		2119	4164	6283	SO:0001819	synonymous_variant	126298						protein binding	g.chr19:44099419G>A	AF322648	CCDS33040.1	19q13.31	2013-07-03	2005-10-31	2005-10-31		ENSG00000167378			24868	protein-coding gene	gene with protein product			"immunity-related GTPase family, Q1"	IRGQ1		16277747	Standard	NM_001007561		Approved	FKSG27	uc010eiv.2	Q8WZA9		ENST00000602269.1:c.72C>T	19.37:g.44099419G>A						IRGQ_ENST00000602269.1_Silent_p.I24I	p.I24I	NM_001007561.2	NP_001007562.1	Q8WZA9	IRGQ_HUMAN			2	227	-		Prostate(69;0.0199)	24					B2RNP3	Silent	SNP	ENST00000602269.1	37	c.72C>T	CCDS33040.1																																																																																				0.672	IRGQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463205.1	NM_001007561		18	47	0	0	0	1	0	18	47					A	44099419	G	A	44099419	2	1	123	1	0	0	0	0	0	0	0	1	7839	1048	37	2		2	IRGQ	19	44099419	Silent	SNP	G	TCGA-EJ-A65J-01A-11D-A30X-08	8345944	44099419	15029564	42	6501											
CLPTM1	1209	broad.mit.edu	37	chr19	45495926	45495926	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctaccgcgtcgaccccacccGagtcaacgagtttggcatga	9	7	10	15	5	1	1	1	1	0	0	2	4	1	1	4	1	2	2	4	1	2	2			TCGA-EJ-A65J-01A-11D-A30X-08	TCGA-EJ-A65J-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644108d8-dcc6-4d2d-85c0-ba6ac153cc9b	6773ad95-6d11-4f51-8b2b-5cc5ef4057ea	g.chr19:45495926G>A	ENST00000337392.5	+	14	1931	c.1781G>A	c.(1780-1782)cGa>cAa	p.R594Q	CLPTM1_ENST00000546079.1_Missense_Mutation_p.R492Q|CLPTM1_ENST00000541297.2_Missense_Mutation_p.R580Q	NM_001282175.1|NM_001282176.1|NM_001294.2	NP_001269104.1|NP_001269105.1|NP_001285.1	O96005	CLPT1_HUMAN	cleft lip and palate associated transmembrane protein 1	594					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|regulation of T cell differentiation in thymus (GO:0033081)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00354)|Epithelial(262;0.187)		GACCCCACCCGAGTCAACGAG	0.647																																						ENST00000541297.2																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						c.(1738-1740)cGa>cAa		cleft lip and palate associated transmembrane protein 1							90	89	89					19																	45495926		2203	4300	6503	SO:0001583	missense	1209				cell differentiation|multicellular organismal development|regulation of T cell differentiation in thymus	external side of plasma membrane|integral to plasma membrane		g.chr19:45495926G>A	AF037339	CCDS12651.1, CCDS74394.1, CCDS74395.1	19q13.3	2008-02-05				ENSG00000104853			2087	protein-coding gene	gene with protein product		604783				9828125	Standard	NM_001294		Approved		uc002pai.3	O96005		ENST00000337392.5:c.1781G>A	19.37:g.45495926G>A	ENSP00000336994:p.Arg594Gln					CLPTM1_ENST00000546079.1_Missense_Mutation_p.R492Q|CLPTM1_ENST00000337392.5_Missense_Mutation_p.R594Q	p.R580Q			O96005	CLPT1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00354)|Epithelial(262;0.187)	14	2204	+		all_neural(266;0.224)|Ovarian(192;0.231)	594					B3KQH2|B4DDS3|B4E2X9|B7Z9X9|F5H8J3|Q53ET6|Q9BSS5	Missense_Mutation	SNP	ENST00000337392.5	37	c.1739G>A	CCDS12651.1	.	.	.	.	.	.	.	.	.	.	G	33	5.242557	0.95272	.	.	ENSG00000104853	ENST00000546079;ENST00000541297;ENST00000337392;ENST00000347493	.	.	.	4.97	4.97	0.65823	.	0.127995	0.49916	D	0.000130	T	0.78773	0.4336	M	0.75884	2.315	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.81280	-0.1004	9	0.87932	D	0	-37.2338	15.8216	0.78654	0.0:0.0:1.0:0.0	.	580;594	F5H8J3;O96005	.;CLPT1_HUMAN	Q	492;580;594;594	.	ENSP00000336994:R594Q	R	+	2	0	CLPTM1	50187766	1.000000	0.71417	0.995000	0.50966	0.954000	0.61252	8.402000	0.90205	2.583000	0.87209	0.650000	0.86243	CGA		0.647	CLPTM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453267.1	NM_001294		4	119	0	0	0	1	0	4	119					A	45495926	G	A	45495926	3	1	123	1	0	0	0	0	1	0	0	0	3554	1058	37	2	1835	2	CLPTM1	19	45495926	Missense_Mutation	SNP	G	TCGA-EJ-A65J-01A-11D-A30X-08	1396507	45495926	13633057	43	6502											
SLC6A16	28968	broad.mit.edu	37	chr19	49797195	49797195	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccccatggccagcaacatcaGgaagaagataaaagaccaga	18	3	9	11	0	1	4	1	0	0	4	1	5	1	5	4	2	2	1	4	2	5	1			TCGA-EJ-A65J-01A-11D-A30X-08	TCGA-EJ-A65J-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644108d8-dcc6-4d2d-85c0-ba6ac153cc9b	6773ad95-6d11-4f51-8b2b-5cc5ef4057ea	g.chr19:49797195G>A	ENST00000335875.4	-	9	1748	c.1507C>T	c.(1507-1509)Ctg>Ttg	p.L503L	SLC6A16_ENST00000454748.3_Silent_p.L503L	NM_014037.2	NP_054756.2	Q9GZN6	S6A16_HUMAN	solute carrier family 6, member 16	503					neurotransmitter transport (GO:0006836)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)	neurotransmitter transporter activity (GO:0005326)|neurotransmitter:sodium symporter activity (GO:0005328)			NS(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00099)|GBM - Glioblastoma multiforme(486;0.0336)		AGCAACATCAGGAAGAAGATA	0.493																																						ENST00000454748.3																			0				NS(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32						c.(1507-1509)Ctg>Ttg		solute carrier family 6, member 16							156	160	158					19																	49797195		2018	4182	6200	SO:0001819	synonymous_variant	28968					integral to membrane|intracellular	neurotransmitter:sodium symporter activity	g.chr19:49797195G>A	AF265578	CCDS42590.1	19q13.33	2013-05-22			ENSG00000063127	ENSG00000063127		"Solute carriers"	13622	protein-coding gene	gene with protein product	"NTT5 protein"	607972	"solute carrier family 6 (neurotransmitter transporter), member 16"			10471414, 11112352	Standard	XM_005258820		Approved	NTT5	uc002pmz.3	Q9GZN6		ENST00000335875.4:c.1507C>T	19.37:g.49797195G>A						SLC6A16_ENST00000335875.4_Silent_p.L503L	p.L503L			Q9GZN6	S6A16_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00099)|GBM - Glioblastoma multiforme(486;0.0336)	9	1708	-		all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)	503					Q8IYV4|Q9Y5I9	Silent	SNP	ENST00000335875.4	37	c.1507C>T	CCDS42590.1																																																																																				0.493	SLC6A16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465503.2	NM_014037		33	54	0	0	0	1	0	33	54					A	49797195	G	A	49797195	2	1	123	1	0	0	0	0	0	0	0	1	14679	991	35	3		3	SLC6A16	19	49797195	Silent	SNP	G	TCGA-EJ-A65J-01A-11D-A30X-08	4301269	49797195	9331788	44	6503											
ZSCAN5A	79149	broad.mit.edu	37	chr19	56733190	56733190	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgaactgcttctggcagacGtcacacgtgtagggcctctc	7	10	12	12	2	3	2	1	1	2	1	4	2	3	2	1	2	2	3	1	2	2	2			TCGA-EJ-A65J-01A-11D-A30X-08	TCGA-EJ-A65J-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644108d8-dcc6-4d2d-85c0-ba6ac153cc9b	6773ad95-6d11-4f51-8b2b-5cc5ef4057ea	g.chr19:56733190G>A	ENST00000587340.1	-	7	1940	c.1245C>T	c.(1243-1245)gaC>gaT	p.D415D	ZSCAN5A_ENST00000587492.1_Silent_p.D269D|ZSCAN5A_ENST00000391713.1_Silent_p.D415D|ZSCAN5A_ENST00000592355.1_Silent_p.D414D|ZSCAN5A_ENST00000254165.3_Silent_p.D298D			Q9BUG6	ZSA5A_HUMAN	zinc finger and SCAN domain containing 5A	415					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(1)|lung(12)|ovary(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						TCTGGCAGACGTCACACGTGT	0.498																																						ENST00000587340.1																			0				autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(1)|lung(12)|ovary(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						c.(1243-1245)gaC>gaT		zinc finger and SCAN domain containing 5A							61	56	58					19																	56733190		2203	4300	6503	SO:0001819	synonymous_variant	79149				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:56733190G>A	AK098700	CCDS12941.1	19q13.43	2013-01-08	2008-06-10	2008-06-10	ENSG00000131848	ENSG00000131848		"-", "Zinc fingers, C2H2-type"	23710	protein-coding gene	gene with protein product			"zinc finger protein 495", "zinc finger and SCAN domain containing 5"	ZNF495, ZSCAN5			Standard	NM_024303		Approved	MGC4161	uc002qmq.3	Q9BUG6		ENST00000587340.1:c.1245C>T	19.37:g.56733190G>A						ZSCAN5A_ENST00000254165.3_Silent_p.D298D|ZSCAN5A_ENST00000592355.1_Silent_p.D414D|ZSCAN5A_ENST00000587492.1_Silent_p.D269D|ZSCAN5A_ENST00000391713.1_Silent_p.D415D	p.D415D			Q9BUG6	ZSA5A_HUMAN			7	1940	-			415					B4DX98|Q49A73|Q53F04|Q8N7B3	Silent	SNP	ENST00000587340.1	37	c.1245C>T	CCDS12941.1																																																																																				0.498	ZSCAN5A-004	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000458110.1	NM_024303		7	35	0	0	0	1	0	7	35					A	56733190	G	A	56733190	2	1	123	1	0	0	0	0	0	0	0	1	18235	1136	40	1		1	ZSCAN5A	19	56733190	Silent	SNP	G	TCGA-EJ-A65J-01A-11D-A30X-08	6935995	56733190	2395793	45	6504											
C22orf23	84645	broad.mit.edu	37	chr22	38340508	38340508	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gccaggaattctttcctctcCtggatttccttcaccactgg	6	14	7	14	0	3	0	1	0	2	0	6	2	5	2	5	3	0	0	5	3	1	4	rs542624188		TCGA-EJ-A65J-01A-11D-A30X-08	TCGA-EJ-A65J-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644108d8-dcc6-4d2d-85c0-ba6ac153cc9b	6773ad95-6d11-4f51-8b2b-5cc5ef4057ea	g.chr22:38340508C>T	ENST00000249079.2	-	6	754	c.498G>A	c.(496-498)caG>caA	p.Q166Q	C22orf23_ENST00000403305.1_Silent_p.Q166Q|C22orf23_ENST00000403026.1_Silent_p.Q166Q			Q9BZE7	EVG1_HUMAN	chromosome 22 open reading frame 23	166										endometrium(3)|kidney(2)|large_intestine(7)	12	Melanoma(58;0.045)					CTTTCCTCTCCTGGATTTCCT	0.537																																						ENST00000249079.2																			0				endometrium(3)|kidney(2)|large_intestine(7)	12						c.(496-498)caG>caA		chromosome 22 open reading frame 23							75	71	72					22																	38340508		2203	4300	6503	SO:0001819	synonymous_variant	84645							g.chr22:38340508C>T	AF324466	CCDS13962.1, CCDS74860.1	22q13.1	2013-10-11			ENSG00000128346	ENSG00000128346			18589	protein-coding gene	gene with protein product						11237012	Standard	NM_032561		Approved	FLJ32787, EVG1, LOC84645	uc003auj.2	Q9BZE7	OTTHUMG00000150672	ENST00000249079.2:c.498G>A	22.37:g.38340508C>T						C22orf23_ENST00000403305.1_Silent_p.Q166Q|C22orf23_ENST00000403026.1_Silent_p.Q166Q	p.Q166Q			Q9BZE7	EVG1_HUMAN			6	754	-	Melanoma(58;0.045)		166					Q5JYU9|Q96M68	Silent	SNP	ENST00000249079.2	37	c.498G>A	CCDS13962.1																																																																																				0.537	C22orf23-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319564.1	NM_032561		3	45	0	0	0	1	0	3	45					T	38340508	C	T	38340508	2	4	123	1	0	0	0	0	0	0	0	1	2137	680	24	3		3	C22orf23	22	38340508	Silent	SNP	C	TCGA-EJ-A65J-01A-11D-A30X-08		38340508	12964058	46	6505											
CXorf23	256643	broad.mit.edu	37	chrX	19984249	19984249	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cttcagagcctcttctagttGactgggagtatttttcttct	6	18	8	9	0	5	2	1	1	4	1	5	3	5	3	1	1	1	2	1	1	2	8			TCGA-EJ-A65J-01A-11D-A30X-08	TCGA-EJ-A65J-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644108d8-dcc6-4d2d-85c0-ba6ac153cc9b	6773ad95-6d11-4f51-8b2b-5cc5ef4057ea	g.chrX:19984249G>A	ENST00000379682.4	-	2	593	c.560C>T	c.(559-561)tCa>tTa	p.S187L	CXorf23_ENST00000379687.3_Missense_Mutation_p.S187L|CXorf23_ENST00000356980.3_Missense_Mutation_p.S187L			A2AJT9	CX023_HUMAN	chromosome X open reading frame 23	187						mitochondrion (GO:0005739)				endometrium(2)|large_intestine(1)|lung(6)|skin(1)|urinary_tract(1)	11						TCTTCTAGTTGACTGGGAGTA	0.408																																						ENST00000379687.3																			0				endometrium(2)|large_intestine(1)|lung(6)|skin(1)|urinary_tract(1)	11						c.(559-561)tCa>tTa		chromosome X open reading frame 23							144	127	132					X																	19984249		1842	4099	5941	SO:0001583	missense	256643					mitochondrion		g.chrX:19984249G>A	AL833278	CCDS14194.2	Xp22.13	2012-11-27			ENSG00000173681	ENSG00000173681			27413	protein-coding gene	gene with protein product						14702039	Standard	NM_198279		Approved		uc004czp.3	A2AJT9	OTTHUMG00000021226	ENST00000379682.4:c.560C>T	X.37:g.19984249G>A	ENSP00000369004:p.Ser187Leu					CXorf23_ENST00000379682.4_Missense_Mutation_p.S187L|CXorf23_ENST00000356980.3_Missense_Mutation_p.S187L	p.S187L	NM_198279.3	NP_938020.2	A2AJT9	CX023_HUMAN			2	593	-			187					A1A4E8|Q5VSM7|Q5VSN1|Q6ZS60|Q8N1W7	Missense_Mutation	SNP	ENST00000379682.4	37	c.560C>T		.	.	.	.	.	.	.	.	.	.	G	13.94	2.387645	0.42308	.	.	ENSG00000173681	ENST00000379687;ENST00000379682;ENST00000356980;ENST00000539038	T;T;T	0.17213	2.29;2.29;2.29	5.91	5.02	0.67125	.	.	.	.	.	T	0.14270	0.0345	L	0.32530	0.975	0.32719	N	0.51056	B;B	0.17268	0.021;0.021	B;B	0.19946	0.027;0.027	T	0.12293	-1.0553	8	.	.	.	.	12.5383	0.56154	0.0854:0.0:0.9146:0.0	.	187;187	A2AJT9-2;A2AJT9	.;CX023_HUMAN	L	187;187;187;75	ENSP00000369009:S187L;ENSP00000369004:S187L;ENSP00000349470:S187L	.	S	-	2	0	CXorf23	19894170	1.000000	0.71417	0.546000	0.28166	0.989000	0.77384	2.888000	0.48594	1.172000	0.42781	0.556000	0.70494	TCA		0.408	CXorf23-006	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000055991.2	NM_198279		27	7	0	0	0	1	0	27	7					A	19984249	G	A	19984249	3	1	123	1	0	0	0	0	1	0	0	0	4103	1294	45	3	1528	3	CXorf23	23	19984249	Missense_Mutation	SNP	G	TCGA-EJ-A65J-01A-11D-A30X-08		19984249	135286311	47	6506											
MIB2	142678	broad.mit.edu	37	chr1	1560431	1560431	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgggatgtggagacaggccGgagtgtggccagcgtgacgt	7	7	19	8	3	0	2	0	1	0	1	0	5	0	4	2	5	1	0	2	5	0	0			TCGA-EJ-A65M-01A-11D-A29Q-08	TCGA-EJ-A65M-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cea7ce0-744e-4962-ac48-f1944c48e13f	600ca654-1eb6-4434-bba1-210e230b973a	g.chr1:1560431G>A	ENST00000357210.4	+	6	977	c.761G>A	c.(760-762)cGg>cAg	p.R254Q	MIB2_ENST00000504599.1_Missense_Mutation_p.R210Q|MIB2_ENST00000378712.1_Intron|MIB2_ENST00000378710.3_Missense_Mutation_p.R254Q|MIB2_ENST00000355826.5_Missense_Mutation_p.R297Q|MIB2_ENST00000378708.1_Missense_Mutation_p.R196Q|MIB2_ENST00000518681.1_Intron|MIB2_ENST00000360522.4_Missense_Mutation_p.R254Q|MIB2_ENST00000505820.2_Missense_Mutation_p.R311Q|MIB2_ENST00000520777.1_Missense_Mutation_p.R311Q	NM_080875.2	NP_543151.2	Q96AX9	MIB2_HUMAN	mindbomb E3 ubiquitin protein ligase 2	254	MIB/HERC2 2. {ECO:0000255|PROSITE- ProRule:PRU00749}.				Notch signaling pathway (GO:0007219)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)	early endosome (GO:0005769)|ubiquitin ligase complex (GO:0000151)	ligase activity (GO:0016874)|signal transducer activity (GO:0004871)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(5)|lung(7)|prostate(4)|upper_aerodigestive_tract(1)	18	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;5.26e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.54e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|BRCA - Breast invasive adenocarcinoma(365;0.00786)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		GAGACAGGCCGGAGTGTGGCC	0.657																																						ENST00000357210.4																			0				central_nervous_system(1)|endometrium(5)|lung(7)|prostate(4)|upper_aerodigestive_tract(1)	18						c.(760-762)cGg>cAg		mindbomb E3 ubiquitin protein ligase 2							60	71	67					1																	1560431		2200	4298	6498	SO:0001583	missense	142678				Notch signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade	endosome	actin binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding	g.chr1:1560431G>A	AK097106	CCDS41224.1, CCDS41224.2, CCDS53261.1, CCDS53262.1, CCDS53263.1, CCDS53264.1	1p36.33	2013-01-10	2012-02-23	2005-04-01	ENSG00000197530	ENSG00000197530		"Zinc fingers, ZZ-type", "Ankyrin repeat domain containing"	30577	protein-coding gene	gene with protein product		611141	"zinc finger, ZZ type with ankyrin repeat domain 1", "mindbomb homolog 2 (Drosophila)"	ZZANK1		12761501	Standard	NM_080875		Approved	skeletrophin, ZZZ5, FLJ39787	uc001agg.3	Q96AX9	OTTHUMG00000074647	ENST00000357210.4:c.761G>A	1.37:g.1560431G>A	ENSP00000349741:p.Arg254Gln					MIB2_ENST00000520777.1_Missense_Mutation_p.R311Q|MIB2_ENST00000378708.1_Missense_Mutation_p.R196Q|MIB2_ENST00000378712.1_Intron|MIB2_ENST00000505820.2_Missense_Mutation_p.R311Q|MIB2_ENST00000360522.4_Missense_Mutation_p.R254Q|MIB2_ENST00000355826.5_Missense_Mutation_p.R297Q|MIB2_ENST00000504599.1_Missense_Mutation_p.R210Q|MIB2_ENST00000378710.3_Missense_Mutation_p.R254Q|MIB2_ENST00000518681.1_Intron	p.R254Q	NM_080875.2	NP_543151.2	Q96AX9	MIB2_HUMAN		Epithelial(90;5.26e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.54e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|BRCA - Breast invasive adenocarcinoma(365;0.00786)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)	6	977	+	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)	254			MIB/HERC2 2.		A2AGM5|A2AGM6|B3KV93|B3KVF4|B3KXY1|B4DZ57|E9PGU1|E9PHQ1|F8WA73|J3KNZ7|Q7Z437|Q8IY62|Q8N786|Q8N897|Q8N8R2|Q8N911|Q8NB36|Q8NCY1|Q8NG59|Q8NG60|Q8NG61|Q8NI59|Q8WYN1	Missense_Mutation	SNP	ENST00000357210.4	37	c.761G>A		.	.	.	.	.	.	.	.	.	.	G	23.1	4.374158	0.82573	.	.	ENSG00000197530	ENST00000520777;ENST00000357210;ENST00000360522;ENST00000378710;ENST00000355826;ENST00000505820;ENST00000504599;ENST00000378708	T;T;T;T;T;T;T;T	0.38722	1.12;1.15;1.16;1.16;1.14;1.12;1.15;1.18	5.01	5.01	0.66863	Mib-herc2 (2);	0.000000	0.85682	D	0.000000	T	0.62344	0.2420	M	0.68952	2.095	0.80722	D	1	D;D;D;D	0.71674	0.992;0.998;0.996;0.994	D;P;P;D	0.66979	0.94;0.88;0.809;0.948	T	0.64533	-0.6385	10	0.52906	T	0.07	-0.3799	17.2944	0.87166	0.0:0.0:1.0:0.0	.	254;311;240;254	Q96AX9-5;E9PGU1;Q96AX9-2;Q96AX9	.;.;.;MIB2_HUMAN	Q	311;254;254;254;297;311;210;196	ENSP00000428660:R311Q;ENSP00000349741:R254Q;ENSP00000353713:R254Q;ENSP00000367982:R254Q;ENSP00000348081:R297Q;ENSP00000426103:R311Q;ENSP00000426128:R210Q;ENSP00000367980:R196Q	ENSP00000348081:R297Q	R	+	2	0	MIB2	1550294	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.379000	0.97198	2.321000	0.78463	0.462000	0.41574	CGG		0.657	MIB2-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_080875		4	140	0	0	0	1	0	4	140					A	1560431	G	A	1560431	3	1	124	1	0	0	0	0	1	0	0	0	9567	1116	39	2	954	2	MIB2	1	1560431	Missense_Mutation	SNP	G	TCGA-EJ-A65M-01A-11D-A29Q-08		1560431	247690190	1	6507											
AJAP1	55966	broad.mit.edu	37	chr1	4832521	4832521	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgtcagggcatctgtgcccGtgtacaccgatgagacgctg	7	8	14	12	4	2	1	1	1	1	1	2	3	2	1	2	1	2	3	2	1	1	1	rs201524940		TCGA-EJ-A65M-01A-11D-A29Q-08	TCGA-EJ-A65M-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cea7ce0-744e-4962-ac48-f1944c48e13f	600ca654-1eb6-4434-bba1-210e230b973a	g.chr1:4832521G>A	ENST00000378191.4	+	4	1480	c.1099G>A	c.(1099-1101)Gtg>Atg	p.V367M	AJAP1_ENST00000378190.3_Missense_Mutation_p.V367M	NM_018836.3	NP_061324.1	Q9UKB5	AJAP1_HUMAN	adherens junctions associated protein 1	367	Targeting signals.				cell adhesion (GO:0007155)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|urinary_tract(1)	24	all_cancers(77;0.071)|Ovarian(185;0.0721)	all_cancers(23;1.77e-36)|all_epithelial(116;1.26e-21)|all_lung(118;3.51e-08)|Lung NSC(185;3.47e-06)|all_neural(13;8.84e-06)|all_hematologic(16;7.61e-05)|Breast(487;0.000507)|Renal(390;0.0007)|Colorectal(325;0.00117)|Hepatocellular(190;0.0071)|Glioma(11;0.0155)|Myeloproliferative disorder(586;0.0258)|Ovarian(437;0.0409)|Lung SC(97;0.133)|Medulloblastoma(700;0.215)		Epithelial(90;3.89e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.97e-19)|GBM - Glioblastoma multiforme(42;3.71e-19)|Colorectal(212;4.57e-06)|COAD - Colon adenocarcinoma(227;0.00019)|Kidney(185;0.000969)|BRCA - Breast invasive adenocarcinoma(365;0.00122)|STAD - Stomach adenocarcinoma(132;0.00578)|KIRC - Kidney renal clear cell carcinoma(229;0.0126)|READ - Rectum adenocarcinoma(331;0.0689)		ATCTGTGCCCGTGTACACCGA	0.587													G|||	1	0.000199681	0	0.0014	5008	,	,		18130	0		0	False		,,,				2504	0					ENST00000378191.4																			0				endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|urinary_tract(1)	24						c.(1099-1101)Gtg>Atg		adherens junctions associated protein 1							67	61	63					1																	4832521		2203	4300	6503	SO:0001583	missense	55966				cell adhesion	adherens junction|apical plasma membrane|basolateral plasma membrane|integral to membrane		g.chr1:4832521G>A	AF175409	CCDS54.1	1p36.32	2008-02-05	2008-01-08		ENSG00000196581	ENSG00000196581			30801	protein-coding gene	gene with protein product	"transmembrane protein SHREW1"	610972				14595118	Standard	NM_001042478		Approved	SHREW1, SHREW-1, MOT8	uc001aln.3	Q9UKB5	OTTHUMG00000000645	ENST00000378191.4:c.1099G>A	1.37:g.4832521G>A	ENSP00000367433:p.Val367Met					AJAP1_ENST00000378190.3_Missense_Mutation_p.V367M	p.V367M	NM_018836.3	NP_061324.1	Q9UKB5	AJAP1_HUMAN		Epithelial(90;3.89e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.97e-19)|GBM - Glioblastoma multiforme(42;3.71e-19)|Colorectal(212;4.57e-06)|COAD - Colon adenocarcinoma(227;0.00019)|Kidney(185;0.000969)|BRCA - Breast invasive adenocarcinoma(365;0.00122)|STAD - Stomach adenocarcinoma(132;0.00578)|KIRC - Kidney renal clear cell carcinoma(229;0.0126)|READ - Rectum adenocarcinoma(331;0.0689)	4	1480	+	all_cancers(77;0.071)|Ovarian(185;0.0721)	all_cancers(23;1.77e-36)|all_epithelial(116;1.26e-21)|all_lung(118;3.51e-08)|Lung NSC(185;3.47e-06)|all_neural(13;8.84e-06)|all_hematologic(16;7.61e-05)|Breast(487;0.000507)|Renal(390;0.0007)|Colorectal(325;0.00117)|Hepatocellular(190;0.0071)|Glioma(11;0.0155)|Myeloproliferative disorder(586;0.0258)|Ovarian(437;0.0409)|Lung SC(97;0.133)|Medulloblastoma(700;0.215)	367			Targeting signals.		Q9Y229	Missense_Mutation	SNP	ENST00000378191.4	37	c.1099G>A	CCDS54.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	13.75	2.329884	0.41297	.	.	ENSG00000196581	ENST00000378190;ENST00000378191	T;T	0.48836	0.8;0.8	5.12	3.2	0.36748	.	0.193573	0.44097	D	0.000495	T	0.23210	0.0561	N	0.12182	0.205	0.40351	D	0.97913	P	0.43431	0.807	B	0.30029	0.11	T	0.15636	-1.0430	10	0.72032	D	0.01	-19.4098	10.0917	0.42451	0.1685:0.0:0.8315:0.0	.	367	Q9UKB5	AJAP1_HUMAN	M	367	ENSP00000367432:V367M;ENSP00000367433:V367M	ENSP00000367432:V367M	V	+	1	0	AJAP1	4732381	0.998000	0.40836	0.577000	0.28562	0.047000	0.14425	2.793000	0.47845	1.126000	0.42016	0.561000	0.74099	GTG		0.587	AJAP1-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001542.3	NM_018836		5	56	0	0	0	1	0	5	56					A	4832521	G	A	4832521	3	1	124	1	0	0	0	0	1	0	0	0	438	1145	40	1	1113	1	AJAP1	1	4832521	Missense_Mutation	SNP	G	TCGA-EJ-A65M-01A-11D-A29Q-08	3272090	4832521	244418100	2	6508											
LPAR3	23566	broad.mit.edu	37	chr1	85279651	85279651	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	gggacgcctctctgggttctCctgagagaagcagcagatca	9	8	13	11	1	3	3	1	1	2	2	5	5	3	4	2	2	2	3	2	2	1	1			TCGA-EJ-A65M-01A-11D-A29Q-08	TCGA-EJ-A65M-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cea7ce0-744e-4962-ac48-f1944c48e13f	600ca654-1eb6-4434-bba1-210e230b973a	g.chr1:85279651C>G	ENST00000440886.1	-	2	978	c.940G>C	c.(940-942)Gag>Cag	p.E314Q	LPAR3_ENST00000370611.3_Missense_Mutation_p.E314Q|LPAR3_ENST00000491034.1_5'UTR			Q9UBY5	LPAR3_HUMAN	lysophosphatidic acid receptor 3	314					activation of MAPK activity (GO:0000187)|bleb assembly (GO:0032060)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of collateral sprouting (GO:0048672)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|synaptic transmission (GO:0007268)	axon (GO:0030424)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|lipid binding (GO:0008289)|lysophosphatidic acid receptor activity (GO:0070915)|phospholipid binding (GO:0005543)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|urinary_tract(1)	24						TCTGGGTTCTCCTGAGAGAAG	0.547																																						ENST00000440886.1																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|urinary_tract(1)	24						c.(940-942)Gag>Cag		lysophosphatidic acid receptor 3							114	105	108					1																	85279651		2203	4300	6503	SO:0001583	missense	23566				G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane|intracellular membrane-bounded organelle		g.chr1:85279651C>G	AF127138	CCDS700.1	1p22.3	2012-08-08	2008-04-11	2008-04-11	ENSG00000171517	ENSG00000171517		"GPCR / Class A : Lysophospholipid receptors : Lysophosphatidic acid"	14298	protein-coding gene	gene with protein product		605106	"endothelial differentiation, lysophosphatidic acid G-protein-coupled receptor, 7"	EDG7		10488122	Standard	NM_012152		Approved	LP-A3, Edg-7, RP4-678I3, HOFNH30, LPA3	uc009wcj.1	Q9UBY5	OTTHUMG00000009925	ENST00000440886.1:c.940G>C	1.37:g.85279651C>G	ENSP00000395389:p.Glu314Gln					LPAR3_ENST00000370611.3_Missense_Mutation_p.E314Q|LPAR3_ENST00000491034.1_5'UTR	p.E314Q			Q9UBY5	LPAR3_HUMAN			2	978	-			314					A0AVA3	Missense_Mutation	SNP	ENST00000440886.1	37	c.940G>C	CCDS700.1	.	.	.	.	.	.	.	.	.	.	C	12.83	2.054690	0.36277	.	.	ENSG00000171517	ENST00000440886;ENST00000370611	T;T	0.36520	1.25;1.25	5.85	5.85	0.93711	.	2.814840	0.00944	N	0.002875	T	0.11580	0.0282	N	0.08118	0	0.09310	N	1	B	0.11235	0.004	B	0.04013	0.001	T	0.31052	-0.9957	10	0.29301	T	0.29	.	14.0364	0.64646	0.1508:0.8492:0.0:0.0	.	314	Q9UBY5	LPAR3_HUMAN	Q	314	ENSP00000395389:E314Q;ENSP00000359643:E314Q	ENSP00000359643:E314Q	E	-	1	0	LPAR3	85052239	0.985000	0.35326	0.989000	0.46669	0.955000	0.61496	2.769000	0.47654	2.773000	0.95371	0.650000	0.86243	GAG		0.547	LPAR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027467.1	NM_012152		28	82	0	0	0	1	0	28	82					G	85279651	C	G	85279651	3	3	124	1	0	0	0	0	1	0	0	0	8906	864	30	5	125	5	LPAR3	1	85279651	Missense_Mutation	SNP	C	TCGA-EJ-A65M-01A-11D-A29Q-08	80447130	85279651	163970970	3	6509											
GFI1	2672	broad.mit.edu	37	chr1	92944268	92944268	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtggacagtgtggatgaccTcttgaagctcttcccacaga	9	11	11	10	0	2	3	0	2	2	1	3	5	3	5	2	2	1	1	2	2	1	2			TCGA-EJ-A65M-01A-11D-A29Q-08	TCGA-EJ-A65M-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cea7ce0-744e-4962-ac48-f1944c48e13f	600ca654-1eb6-4434-bba1-210e230b973a	g.chr1:92944268T>G	ENST00000370332.1	-	6	1285	c.967A>C	c.(967-969)Agg>Cgg	p.R323R	GFI1_ENST00000427103.1_Silent_p.R323R|GFI1_ENST00000294702.5_Silent_p.R323R	NM_001127215.1	NP_001120687.1	Q99684	GFI1_HUMAN	growth factor independent 1 transcription repressor	323					auditory receptor cell differentiation (GO:0042491)|cell fate commitment (GO:0045165)|cellular response to lipopolysaccharide (GO:0071222)|inner ear morphogenesis (GO:0042472)|mechanosensory behavior (GO:0007638)|negative regulation of calcidiol 1-monooxygenase activity (GO:0010956)|negative regulation of cell fate specification (GO:0009996)|negative regulation of neuron projection development (GO:0010977)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of vitamin D biosynthetic process (GO:0010957)|positive regulation of cell fate specification (GO:0042660)|positive regulation of interleukin-6-mediated signaling pathway (GO:0070105)|regulation of toll-like receptor signaling pathway (GO:0034121)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|viral process (GO:0016032)	nuclear body (GO:0016604)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	15		all_lung(203;0.00292)|Lung NSC(277;0.0115)|all_neural(321;0.185)|Glioma(108;0.203)		OV - Ovarian serous cystadenocarcinoma(397;9.04e-07)|Epithelial(280;1.17e-05)|all cancers(265;5.61e-05)|GBM - Glioblastoma multiforme(16;0.0191)		GTGGATGACCTCTTGAAGCTC	0.517																																						ENST00000370332.1																			0				autonomic_ganglia(1)|endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	15						c.(967-969)Agg>Cgg		growth factor independent 1 transcription repressor							188	166	174					1																	92944268		2203	4300	6503	SO:0001819	synonymous_variant	2672				negative regulation of calcidiol 1-monooxygenase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription involved in G1/S phase of mitotic cell cycle|transcription, DNA-dependent|viral reproduction	nucleus	protein binding|transcription regulatory region DNA binding|zinc ion binding	g.chr1:92944268T>G	U67369	CCDS30773.1	1p22	2014-09-17	2007-10-04		ENSG00000162676	ENSG00000162676		"Zinc fingers, C2H2-type"	4237	protein-coding gene	gene with protein product		600871	"growth factor independent 1"	ZNF163		7789186	Standard	NM_005263		Approved	GFI1A, GFI-1	uc001dov.4	Q99684	OTTHUMG00000010897	ENST00000370332.1:c.967A>C	1.37:g.92944268T>G						GFI1_ENST00000294702.5_Silent_p.R323R|GFI1_ENST00000427103.1_Silent_p.R323R	p.R323R	NM_001127215.1	NP_001120687.1	Q99684	GFI1_HUMAN		OV - Ovarian serous cystadenocarcinoma(397;9.04e-07)|Epithelial(280;1.17e-05)|all cancers(265;5.61e-05)|GBM - Glioblastoma multiforme(16;0.0191)	6	1285	-		all_lung(203;0.00292)|Lung NSC(277;0.0115)|all_neural(321;0.185)|Glioma(108;0.203)	323					Q8N564	Silent	SNP	ENST00000370332.1	37	c.967A>C	CCDS30773.1																																																																																				0.517	GFI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030054.1	NM_005263		23	85	0	0	0	1	0	23	85					G	92944268	T	G	92944268	2	3	124	1	0	0	0	0	0	0	0	1	6339	1550	54	5		5	GFI1	1	92944268	Silent	SNP	T	TCGA-EJ-A65M-01A-11D-A29Q-08	7664617	92944268	156306353	4	6510											
INSRR	3645	broad.mit.edu	37	chr1	156828373	156828373	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccaaggagaggaagatcacaGgcaggcatgctccccagggc	12	3	14	12	0	1	2	1	0	0	2	2	4	2	3	3	5	1	3	3	5	2	0			TCGA-EJ-A65M-01A-11D-A29Q-08	TCGA-EJ-A65M-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cea7ce0-744e-4962-ac48-f1944c48e13f	600ca654-1eb6-4434-bba1-210e230b973a	g.chr1:156828373G>A	ENST00000368195.3	-	1	437	c.41C>T	c.(40-42)cCt>cTt	p.P14L	NTRK1_ENST00000368196.3_5'Flank|NTRK1_ENST00000358660.3_5'Flank|NTRK1_ENST00000392302.2_Intron|NTRK1_ENST00000524377.1_5'Flank	NM_014215.2	NP_055030.1	P14616	INSRR_HUMAN	insulin receptor-related receptor	14					actin cytoskeleton reorganization (GO:0031532)|cellular response to alkaline pH (GO:0071469)|male sex determination (GO:0030238)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein autophosphorylation (GO:0046777)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	42	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					GAAGATCACAGGCAGGCATGC	0.632																																						ENST00000368195.3																			0				breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	42						c.(40-42)cCt>cTt		insulin receptor-related receptor							113	102	106					1																	156828373		2203	4300	6503	SO:0001583	missense	3645				protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|insulin receptor substrate binding|metal ion binding|phosphatidylinositol 3-kinase binding|transmembrane receptor protein tyrosine kinase activity	g.chr1:156828373G>A	J05046	CCDS1160.1	1q21-q23	2013-02-11			ENSG00000027644	ENSG00000027644		"Fibronectin type III domain containing"	6093	protein-coding gene	gene with protein product		147671				2768234, 2249481	Standard	NM_014215		Approved	IRR	uc010pht.2	P14616	OTTHUMG00000041291	ENST00000368195.3:c.41C>T	1.37:g.156828373G>A	ENSP00000357178:p.Pro14Leu					NTRK1_ENST00000392302.2_Intron	p.P14L	NM_014215.2	NP_055030.1	P14616	INSRR_HUMAN			1	437	-	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)		14					O60724|Q5VZS3	Missense_Mutation	SNP	ENST00000368195.3	37	c.41C>T	CCDS1160.1	.	.	.	.	.	.	.	.	.	.	G	0.011	-1.738648	0.00681	.	.	ENSG00000027644	ENST00000368195	T	0.72615	-0.67	4.97	3.86	0.44501	.	0.180275	0.26955	N	0.021657	T	0.23965	0.0580	.	.	.	0.32192	N	0.578948	B	0.02656	0.0	B	0.01281	0.0	T	0.06661	-1.0814	9	0.07990	T	0.79	.	6.7195	0.23323	0.8915:0.0:0.1085:0.0	.	14	P14616	INSRR_HUMAN	L	14	ENSP00000357178:P14L	ENSP00000357178:P14L	P	-	2	0	INSRR	155094997	0.949000	0.32298	0.149000	0.22428	0.187000	0.23431	2.806000	0.47947	0.927000	0.37143	-0.302000	0.09304	CCT		0.632	INSRR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098929.1	NM_014215		17	77	0	0	0	1	0	17	77					A	156828373	G	A	156828373	3	1	124	1	0	0	0	0	1	0	0	0	7774	1000	35	3	3939	3	INSRR	1	156828373	Missense_Mutation	SNP	G	TCGA-EJ-A65M-01A-11D-A29Q-08	63884105	156828373	92422248	5	6511											
KLHDC9	126823	broad.mit.edu	37	chr1	161069967	161069967	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tggttgggggttttggtgagGatggcaggacagccagtcca	7	10	18	6	0	0	1	0	1	0	0	1	3	1	3	2	7	1	3	2	7	0	3			TCGA-EJ-A65M-01A-11D-A29Q-08	TCGA-EJ-A65M-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cea7ce0-744e-4962-ac48-f1944c48e13f	600ca654-1eb6-4434-bba1-210e230b973a	g.chr1:161069967G>A	ENST00000368011.4	+	4	1145	c.1003G>A	c.(1003-1005)Gat>Aat	p.D335N	KLHDC9_ENST00000490724.2_3'UTR|PFDN2_ENST00000468311.1_5'Flank|KLHDC9_ENST00000392192.2_3'UTR	NM_152366.4	NP_689579.3	Q8NEP7	KLDC9_HUMAN	kelch domain containing 9	335										lung(5)|upper_aerodigestive_tract(1)	6	all_cancers(52;1.28e-19)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00165)			TTTTGGTGAGGATGGCAGGAC	0.502																																						ENST00000368011.4																			0				lung(5)|upper_aerodigestive_tract(1)	6						c.(1003-1005)Gat>Aat		kelch domain containing 9							189	165	173					1																	161069967		2203	4300	6503	SO:0001583	missense	126823							g.chr1:161069967G>A	BC022077	CCDS30919.1, CCDS41425.1	1q23.3	2008-02-05			ENSG00000162755	ENSG00000162755			28489	protein-coding gene	gene with protein product	"kelch/ankyrin repeat containing cyclin A1 interacting protein"					15159402	Standard	NM_152366		Approved	KARCA1	uc001fxr.3	Q8NEP7	OTTHUMG00000031479	ENST00000368011.4:c.1003G>A	1.37:g.161069967G>A	ENSP00000356990:p.Asp335Asn					KLHDC9_ENST00000490724.2_3'UTR|KLHDC9_ENST00000392192.2_3'UTR	p.D335N	NM_152366.4	NP_689579.3	Q8NEP7	KLDC9_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00165)		4	1145	+	all_cancers(52;1.28e-19)|Breast(13;0.00188)|all_hematologic(112;0.093)		335					Q5SY56|Q6NXT9|Q6PKN4|Q8N5E1|Q8NA16	Missense_Mutation	SNP	ENST00000368011.4	37	c.1003G>A	CCDS30919.1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.463368	0.84425	.	.	ENSG00000162755	ENST00000368011	T	0.73258	-0.73	5.24	5.24	0.73138	Galactose oxidase/kelch, beta-propeller (1);Kelch-type beta propeller (1);	0.000000	0.64402	D	0.000009	T	0.75788	0.3897	L	0.49350	1.555	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.73770	-0.3878	10	0.40728	T	0.16	-4.0979	16.3815	0.83462	0.0:0.0:1.0:0.0	.	335	Q8NEP7	KLDC9_HUMAN	N	335	ENSP00000356990:D335N	ENSP00000356990:D335N	D	+	1	0	KLHDC9	159336591	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	5.445000	0.66594	2.724000	0.93272	0.561000	0.74099	GAT		0.502	KLHDC9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077092.1	NM_152366		43	124	0	0	0	1	0	43	124					A	161069967	G	A	161069967	3	1	124	1	0	0	0	0	1	0	0	0	8364	1174	41	3	1036	3	KLHDC9	1	161069967	Missense_Mutation	SNP	G	TCGA-EJ-A65M-01A-11D-A29Q-08	4241594	161069967	88180654	6	6512											
CACNA1E	777	broad.mit.edu	37	chr1	181726120	181726120	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aggcccaagccgcagcaaccGcatggagatgtctatctttt	10	9	10	12	2	2	1	0	0	2	1	2	2	2	1	3	2	3	3	3	2	3	3			TCGA-EJ-A65M-01A-11D-A29Q-08	TCGA-EJ-A65M-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cea7ce0-744e-4962-ac48-f1944c48e13f	600ca654-1eb6-4434-bba1-210e230b973a	g.chr1:181726120G>A	ENST00000367573.2	+	30	4187	c.4187G>A	c.(4186-4188)cGc>cAc	p.R1396H	CACNA1E_ENST00000526775.1_Missense_Mutation_p.R1377H|CACNA1E_ENST00000358338.5_Missense_Mutation_p.R1328H|CACNA1E_ENST00000367567.4_Missense_Mutation_p.R1003H|CACNA1E_ENST00000357570.5_Missense_Mutation_p.R1347H|CACNA1E_ENST00000367570.1_Missense_Mutation_p.R1396H|CACNA1E_ENST00000360108.3_Missense_Mutation_p.R1377H	NM_001205293.1	NP_001192222.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	1396					calcium ion import (GO:0070509)|energy reserve metabolic process (GO:0006112)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|voltage-gated calcium channel activity (GO:0005245)			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						CGCAGCAACCGCATGGAGATG	0.488																																						ENST00000526775.1																			0				NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						c.(4129-4131)cGc>cAc		calcium channel, voltage-dependent, R type, alpha 1E subunit							183	190	188					1																	181726120		1962	4166	6128	SO:0001583	missense	777				energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr1:181726120G>A	AK096563	CCDS53443.1, CCDS55664.1, CCDS55665.1	1q25.3	2013-01-10	2007-02-16		ENSG00000198216	ENSG00000198216		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels", "EF-hand domain containing"	1392	protein-coding gene	gene with protein product		601013		CACNL1A6		8388125, 16382099	Standard	NM_001205293		Approved	Cav2.3, BII, CACH6	uc009wxt.3	Q15878	OTTHUMG00000037301	ENST00000367573.2:c.4187G>A	1.37:g.181726120G>A	ENSP00000356545:p.Arg1396His					CACNA1E_ENST00000367567.4_Missense_Mutation_p.R1003H|CACNA1E_ENST00000367570.1_Missense_Mutation_p.R1396H|CACNA1E_ENST00000357570.5_Missense_Mutation_p.R1347H|CACNA1E_ENST00000367573.2_Missense_Mutation_p.R1396H|CACNA1E_ENST00000360108.3_Missense_Mutation_p.R1377H|CACNA1E_ENST00000358338.5_Missense_Mutation_p.R1328H	p.R1377H	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN			29	4295	+			1396					B1AM12|B1AM13|B1AM14|Q14580|Q14581	Missense_Mutation	SNP	ENST00000367573.2	37	c.4130G>A	CCDS55664.1	.	.	.	.	.	.	.	.	.	.	G	35	5.459294	0.96240	.	.	ENSG00000198216	ENST00000367570;ENST00000526775;ENST00000357570;ENST00000358338;ENST00000367567;ENST00000360108;ENST00000367573	D;D;D;D;D;D;D	0.98567	-5.0;-5.0;-5.0;-5.0;-5.0;-5.0;-5.0	5.75	5.75	0.90469	Ion transport (1);	0.050918	0.85682	D	0.000000	D	0.98789	0.9592	M	0.67953	2.075	0.80722	D	1	P;D;D	0.89917	0.888;1.0;1.0	P;D;D	0.97110	0.453;1.0;0.996	D	0.99885	1.1121	10	0.87932	D	0	.	19.5549	0.95342	0.0:0.0:1.0:0.0	.	1377;1396;1396	Q15878-2;Q15878;Q15878-3	.;CAC1E_HUMAN;.	H	1396;1377;1347;1328;1003;1377;1396	ENSP00000356542:R1396H;ENSP00000434814:R1377H;ENSP00000350183:R1347H;ENSP00000351101:R1328H;ENSP00000356539:R1003H;ENSP00000353222:R1377H;ENSP00000356545:R1396H	ENSP00000350183:R1347H	R	+	2	0	CACNA1E	179992743	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.731000	0.98807	2.716000	0.92895	0.655000	0.94253	CGC		0.488	CACNA1E-003	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090793.2	NM_000721		26	92	0	0	0	1	0	26	92					A	181726120	G	A	181726120	3	1	124	1	0	0	0	0	1	0	0	0	2542	1087	38	1	4305	1	CACNA1E	1	181726120	Missense_Mutation	SNP	G	TCGA-EJ-A65M-01A-11D-A29Q-08	20656153	181726120	67524501	7	6513											
LAMC1	3915	broad.mit.edu	37	chr1	183085994	183085994	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcttctgtctgtacaaacgCtgttggctacagtgtttatt	7	18	8	8	1	3	0	0	0	3	0	3	0	3	0	0	1	3	5	0	1	4	8			TCGA-EJ-A65M-01A-11D-A29Q-08	TCGA-EJ-A65M-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cea7ce0-744e-4962-ac48-f1944c48e13f	600ca654-1eb6-4434-bba1-210e230b973a	g.chr1:183085994C>G	ENST00000258341.4	+	8	1777	c.1520C>G	c.(1519-1521)gCt>gGt	p.A507G		NM_002293.3	NP_002284.3	P11047	LAMC1_HUMAN	laminin, gamma 1 (formerly LAMB2)	507					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|endoderm development (GO:0007492)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|positive regulation of epithelial cell proliferation (GO:0050679)|protein complex assembly (GO:0006461)|substrate adhesion-dependent cell spreading (GO:0034446)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-11 complex (GO:0043260)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)			NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(27)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	76						TGTACAAACGCTGTTGGCTAC	0.403																																						ENST00000258341.4																			0				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(27)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	76						c.(1519-1521)gCt>gGt		laminin, gamma 1 (formerly LAMB2)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						114	109	111					1																	183085994		2203	4300	6503	SO:0001583	missense	3915				axon guidance|cell migration|endoderm development|extracellular matrix disassembly|hemidesmosome assembly|positive regulation of epithelial cell proliferation|protein complex assembly|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	extracellular matrix structural constituent	g.chr1:183085994C>G	J03202	CCDS1351.1	1q31	2013-03-01			ENSG00000135862	ENSG00000135862		"Laminins"	6492	protein-coding gene	gene with protein product		150290		LAMB2		3234037	Standard	NM_002293		Approved		uc001gpy.4	P11047	OTTHUMG00000035418	ENST00000258341.4:c.1520C>G	1.37:g.183085994C>G	ENSP00000258341:p.Ala507Gly						p.A507G	NM_002293.3	NP_002284.3	P11047	LAMC1_HUMAN			8	1777	+			507					Q5VYE7	Missense_Mutation	SNP	ENST00000258341.4	37	c.1520C>G	CCDS1351.1	.	.	.	.	.	.	.	.	.	.	C	29.4	5.006504	0.93287	.	.	ENSG00000135862	ENST00000258341	T	0.35973	1.28	4.8	4.8	0.61643	.	0.000000	0.85682	D	0.000000	T	0.63283	0.2498	M	0.87456	2.885	0.80722	D	1	D	0.63880	0.993	P	0.60473	0.875	T	0.71724	-0.4506	10	0.62326	D	0.03	.	17.8649	0.88793	0.0:1.0:0.0:0.0	.	507	P11047	LAMC1_HUMAN	G	507	ENSP00000258341:A507G	ENSP00000258341:A507G	A	+	2	0	LAMC1	181352617	1.000000	0.71417	0.791000	0.31998	0.910000	0.53928	7.217000	0.77982	2.220000	0.72140	0.591000	0.81541	GCT		0.403	LAMC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085954.2	NM_002293		15	101	0	0	0	1	0	15	101					G	183085994	C	G	183085994	3	3	124	1	0	0	0	0	1	0	0	0	8614	797	28	5	1550	5	LAMC1	1	183085994	Missense_Mutation	SNP	C	TCGA-EJ-A65M-01A-11D-A29Q-08	1359874	183085994	66164627	8	6514											
ITGAV	3685	broad.mit.edu	37	chr2	187505689	187505689	+	Frame_Shift_Del	DEL	A	A	-																															gctgccactgacattaatggAgatgagtaagtttaaaaaaa																										TCGA-EJ-A65M-01A-11D-A29Q-08	TCGA-EJ-A65M-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cea7ce0-744e-4962-ac48-f1944c48e13f	600ca654-1eb6-4434-bba1-210e230b973a	g.chr2:187505689delA	ENST00000261023.3	+	11	1225	c.951delA	c.(949-951)ggafs	p.G317fs	ITGAV_ENST00000433736.2_Frame_Shift_Del_p.G271fs|ITGAV_ENST00000374907.3_Frame_Shift_Del_p.G281fs|AC017101.10_ENST00000453665.1_RNA	NM_002210.3	NP_002201	P06756	ITAV_HUMAN	integrin, alpha V	317					angiogenesis (GO:0001525)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apolipoprotein A-I-mediated signaling pathway (GO:0038027)|apoptotic cell clearance (GO:0043277)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cell adhesion (GO:0007155)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cell-substrate adhesion (GO:0031589)|endodermal cell differentiation (GO:0035987)|entry of symbiont into host cell by promotion of host phagocytosis (GO:0052066)|ERK1 and ERK2 cascade (GO:0070371)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|negative chemotaxis (GO:0050919)|negative regulation of entry of bacterium into host cell (GO:2000536)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of lipid storage (GO:0010888)|negative regulation of lipid transport (GO:0032369)|negative regulation of lipoprotein metabolic process (GO:0050748)|negative regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045715)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of osteoblast proliferation (GO:0033690)|regulation of apoptotic cell clearance (GO:2000425)|regulation of phagocytosis (GO:0050764)|substrate adhesion-dependent cell spreading (GO:0034446)|viral entry into host cell (GO:0046718)	alphav-beta3 integrin-IGF-1-IGF1R complex (GO:0035867)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|integrin alphav-beta3 complex (GO:0034683)|integrin alphav-beta5 complex (GO:0034684)|integrin alphav-beta8 complex (GO:0034686)|integrin complex (GO:0008305)|lamellipodium membrane (GO:0031258)|membrane (GO:0016020)|microvillus membrane (GO:0031528)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	extracellular matrix binding (GO:0050840)|extracellular matrix protein binding (GO:1990430)|fibronectin binding (GO:0001968)|metal ion binding (GO:0046872)|protease binding (GO:0002020)|transforming growth factor beta binding (GO:0050431)|virus receptor activity (GO:0001618)|voltage-gated calcium channel activity (GO:0005245)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47			OV - Ovarian serous cystadenocarcinoma(117;0.0185)|Epithelial(96;0.072)|all cancers(119;0.189)	STAD - Stomach adenocarcinoma(3;0.106)|COAD - Colon adenocarcinoma(31;0.108)	Antithymocyte globulin(DB00098)	ACATTAATGGAGATGAGTAAG	0.289																																					Melanoma(58;108 1995 6081)	ENST00000261023.3																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47						c.(949-951)ggfs		integrin, alpha V							27	28	28					2																	187505689		2195	4276	6471	SO:0001589	frameshift_variant	3685				angiogenesis|axon guidance|blood coagulation|cell-matrix adhesion|entry of bacterium into host cell|entry of symbiont into host cell by promotion of host phagocytosis|entry of virus into host cell|ERK1 and ERK2 cascade|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|positive regulation of cell adhesion|positive regulation of cell proliferation|regulation of apoptotic cell clearance	integrin complex	receptor activity|transforming growth factor beta binding	g.chr2:187505689delA		CCDS2292.1, CCDS46470.1, CCDS46471.1	2q31-q32	2012-04-20	2012-04-20		ENSG00000138448	ENSG00000138448		"CD molecules", "Integrins"	6150	protein-coding gene	gene with protein product		193210	"antigen identified by monoclonal antibody L230", "vitronectin receptor", "integrin, alpha V (vitronectin receptor, alpha polypeptide, antigen CD51)"	VNRA, MSK8, VTNR		2454952	Standard	NM_001144999		Approved	CD51	uc002upq.4	P06756	OTTHUMG00000132635	ENST00000261023.3:c.951delA	2.37:g.187505689delA	ENSP00000261023:p.Gly317fs					ITGAV_ENST00000433736.2_Frame_Shift_Del_p.G271fs|ITGAV_ENST00000374907.3_Frame_Shift_Del_p.G281fs	p.G317fs	NM_002210.3	NP_002201.1	P06756	ITAV_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0185)|Epithelial(96;0.072)|all cancers(119;0.189)	STAD - Stomach adenocarcinoma(3;0.106)|COAD - Colon adenocarcinoma(31;0.108)	11	1225	+			317					A0AV67|B0LPF4|B7Z883|B7ZLX0|D3DPG8|E7EWZ6|Q53SK4|Q59EB7|Q6LD15	Frame_Shift_Del	DEL	ENST00000261023.3	37	c.951delA	CCDS2292.1																																																																																				0.289	ITGAV-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255882.2	NM_002210		2	4						2	4	---	---	---	---	-	187505689	A	-	187505689	7	5	124	1	0	1	0	1	0	0	0	0	7888	291	11	0	1044	0	ITGAV	2	187505689	Frame_Shift_Del	DEL	A	TCGA-EJ-A65M-01A-11D-A29Q-08		187505689	55693684	9	6515											
DHX30	22907	broad.mit.edu	37	chr3	47889325	47889325	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	catattccagcagcctccagTtggggtgcgcaagattgtct	8	11	11	11	1	1	1	0	0	1	1	3	1	3	1	3	2	3	3	3	2	2	4			TCGA-EJ-A65M-01A-11D-A29Q-08	TCGA-EJ-A65M-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cea7ce0-744e-4962-ac48-f1944c48e13f	600ca654-1eb6-4434-bba1-210e230b973a	g.chr3:47889325T>C	ENST00000445061.1	+	14	2572	c.2165T>C	c.(2164-2166)gTt>gCt	p.V722A	DHX30_ENST00000348968.4_Missense_Mutation_p.V694A|MIR1226_ENST00000408658.1_RNA|DHX30_ENST00000457607.1_Missense_Mutation_p.V750A|DHX30_ENST00000446256.2_Missense_Mutation_p.V683A	NM_138615.2	NP_619520.1	Q7L2E3	DHX30_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 30	722	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.					cytoplasm (GO:0005737)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|chromatin binding (GO:0003682)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)			endometrium(3)|kidney(1)|large_intestine(11)|lung(13)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	37				BRCA - Breast invasive adenocarcinoma(193;0.000696)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)		CAGCCTCCAGTTGGGGTGCGC	0.527																																						ENST00000446256.2																			0				endometrium(3)|kidney(1)|large_intestine(11)|lung(13)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	37						c.(2047-2049)gTt>gCt		DEAH (Asp-Glu-Ala-His) box helicase 30							113	90	98					3																	47889325		2203	4300	6503	SO:0001583	missense	22907					mitochondrial nucleoid	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding	g.chr3:47889325T>C	AB020697	CCDS2759.1	3p24.3-p22.1	2013-07-16	2013-07-16	2003-06-13	ENSG00000132153	ENSG00000132153		"DEAH-boxes"	16716	protein-coding gene	gene with protein product			"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 30", "DEAH (Asp-Glu-Ala-His) box polypeptide 30"	DDX30		10048485, 18022663	Standard	NM_138615		Approved	KIAA0890, FLJ11214	uc003cru.3	Q7L2E3	OTTHUMG00000133522	ENST00000445061.1:c.2165T>C	3.37:g.47889325T>C	ENSP00000405620:p.Val722Ala					DHX30_ENST00000348968.4_Missense_Mutation_p.V694A|DHX30_ENST00000457607.1_Missense_Mutation_p.V750A|DHX30_ENST00000445061.1_Missense_Mutation_p.V722A	p.V683A	NM_014966.3	NP_055781.2	Q7L2E3	DHX30_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000696)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)	15	2620	+			722			Helicase C-terminal.		A8K5F1|O94965|Q7Z753|Q96CH4|Q9NUQ0	Missense_Mutation	SNP	ENST00000445061.1	37	c.2048T>C	CCDS2759.1	.	.	.	.	.	.	.	.	.	.	T	0.064	-1.216119	0.01542	.	.	ENSG00000132153	ENST00000446256;ENST00000445061;ENST00000348968;ENST00000457607	T;T;T;T	0.73047	-0.71;-0.71;-0.71;-0.71	5.73	2.06	0.26882	Helicase, C-terminal (3);	1.512850	0.03716	N	0.250992	T	0.38480	0.1042	N	0.01522	-0.82	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.45877	-0.9231	10	0.06625	T	0.88	.	3.3982	0.07313	0.2078:0.4343:0.0:0.3579	.	722;683	Q7L2E3;Q7L2E3-3	DHX30_HUMAN;.	A	683;722;694;750	ENSP00000392601:V683A;ENSP00000405620:V722A;ENSP00000343442:V694A;ENSP00000394682:V750A	ENSP00000343442:V694A	V	+	2	0	DHX30	47864329	0.000000	0.05858	0.025000	0.17156	0.974000	0.67602	0.171000	0.16685	0.439000	0.26476	0.460000	0.39030	GTT		0.527	DHX30-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257495.2	NM_138615		4	63	0	0	0	1	0	4	63					C	47889325	T	C	47889325	3	2	124	1	0	0	0	0	1	0	0	0	4504	1725	60	4	2222	4	DHX30	3	47889325	Missense_Mutation	SNP	T	TCGA-EJ-A65M-01A-11D-A29Q-08		47889325	150133105	10	6516											
KLB	152831	broad.mit.edu	37	chr4	39448817	39448817	+	Missense_Mutation	SNP	A	A	T																															ggtcgacttctgcgcgctcaAccacttcaccactaggttcg																										TCGA-EJ-A65M-01A-11D-A29Q-08	TCGA-EJ-A65M-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cea7ce0-744e-4962-ac48-f1944c48e13f	600ca654-1eb6-4434-bba1-210e230b973a	g.chr4:39448817A>T	ENST00000257408.4	+	4	2568	c.2471A>T	c.(2470-2472)aAc>aTc	p.N824I		NM_175737.3	NP_783864.1	Q86Z14	KLOTB_HUMAN	klotho beta	824	Glycosyl hydrolase-1 2.				carbohydrate metabolic process (GO:0005975)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway (GO:0090080)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	fibroblast growth factor binding (GO:0017134)|hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|skin(6)	29						TGCGCGCTCAACCACTTCACC	0.657																																						ENST00000257408.4																			0				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|skin(6)	29						c.(2470-2472)aAc>aTc		klotho beta							49	44	46					4																	39448817		2203	4300	6503	SO:0001583	missense	152831				carbohydrate metabolic process	integral to membrane|plasma membrane	cation binding|fibroblast growth factor binding|hydrolase activity, hydrolyzing O-glycosyl compounds	g.chr4:39448817A>T	AB079373	CCDS3451.1	4p14	2008-02-05			ENSG00000134962	ENSG00000134962			15527	protein-coding gene	gene with protein product		611135					Standard	NM_175737		Approved		uc003gua.3	Q86Z14	OTTHUMG00000128577	ENST00000257408.4:c.2471A>T	4.37:g.39448817A>T	ENSP00000257408:p.Asn824Ile						p.N824I	NM_175737.3	NP_783864.1	Q86Z14	KLOTB_HUMAN			4	2568	+			824			Glycosyl hydrolase-1 2.		Q2M3K8	Missense_Mutation	SNP	ENST00000257408.4	37	c.2471A>T	CCDS3451.1	.	.	.	.	.	.	.	.	.	.	A	18.63	3.664938	0.67700	.	.	ENSG00000134962	ENST00000257408	T	0.39592	1.07	4.75	4.75	0.60458	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.000000	0.85682	D	0.000000	T	0.69305	0.3096	M	0.88979	2.995	0.47819	D	0.999523	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.76774	-0.2835	10	0.87932	D	0	-29.7844	14.2597	0.66076	1.0:0.0:0.0:0.0	.	815;824	B7ZL50;Q86Z14	.;KLOTB_HUMAN	I	824	ENSP00000257408:N824I	ENSP00000257408:N824I	N	+	2	0	KLB	39125212	1.000000	0.71417	1.000000	0.80357	0.680000	0.39746	7.375000	0.79646	1.774000	0.52232	0.260000	0.18958	AAC		0.657	KLB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250429.1	NM_175737		9	89	0	0	0	1	0	9	89					T	39448817	A	T	39448817	3	4	124	1	0	0	0	0	1	0	0	0	8332	43	2	5	2485	5	KLB	4	39448817	Missense_Mutation	SNP	A	TCGA-EJ-A65M-01A-11D-A29Q-08		39448817	151705459	11	6517	38	2									
KLB	152831	broad.mit.edu	37	chr4	39448818	39448818	+	Silent	SNP	C	C	T																															gtcgacttctgcgcgctcaaCcacttcaccactaggttcgt																										TCGA-EJ-A65M-01A-11D-A29Q-08	TCGA-EJ-A65M-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cea7ce0-744e-4962-ac48-f1944c48e13f	600ca654-1eb6-4434-bba1-210e230b973a	g.chr4:39448818C>T	ENST00000257408.4	+	4	2569	c.2472C>T	c.(2470-2472)aaC>aaT	p.N824N		NM_175737.3	NP_783864.1	Q86Z14	KLOTB_HUMAN	klotho beta	824	Glycosyl hydrolase-1 2.				carbohydrate metabolic process (GO:0005975)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway (GO:0090080)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	fibroblast growth factor binding (GO:0017134)|hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|skin(6)	29						GCGCGCTCAACCACTTCACCA	0.652																																						ENST00000257408.4																			0				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|skin(6)	29						c.(2470-2472)aaC>aaT		klotho beta							49	44	46					4																	39448818		2203	4300	6503	SO:0001819	synonymous_variant	152831				carbohydrate metabolic process	integral to membrane|plasma membrane	cation binding|fibroblast growth factor binding|hydrolase activity, hydrolyzing O-glycosyl compounds	g.chr4:39448818C>T	AB079373	CCDS3451.1	4p14	2008-02-05			ENSG00000134962	ENSG00000134962			15527	protein-coding gene	gene with protein product		611135					Standard	NM_175737		Approved		uc003gua.3	Q86Z14	OTTHUMG00000128577	ENST00000257408.4:c.2472C>T	4.37:g.39448818C>T							p.N824N	NM_175737.3	NP_783864.1	Q86Z14	KLOTB_HUMAN			4	2569	+			824			Glycosyl hydrolase-1 2.		Q2M3K8	Silent	SNP	ENST00000257408.4	37	c.2472C>T	CCDS3451.1																																																																																				0.652	KLB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250429.1	NM_175737		10	89	0	0	0	1	0	10	89					T	39448818	C	T	39448818	2	4	124	1	0	0	0	0	0	0	0	1	8332	506	18	3		3	KLB	4	39448818	Silent	SNP	C	TCGA-EJ-A65M-01A-11D-A29Q-08	1	39448818	151705458	12	6518	38	2									
UGT2A1	10941	broad.mit.edu	37	chr4	70455304	70455304	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	actcgatccagaagactgctCgatccaggggctttacaggt	10	9	11	11	2	0	2	0	0	0	2	4	4	2	2	2	3	2	2	2	3	2	2			TCGA-EJ-A65M-01A-11D-A29Q-08	TCGA-EJ-A65M-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cea7ce0-744e-4962-ac48-f1944c48e13f	600ca654-1eb6-4434-bba1-210e230b973a	g.chr4:70455304C>T	ENST00000503640.1	-	6	1425	c.1370G>A	c.(1369-1371)cGa>cAa	p.R457Q	UGT2A1_ENST00000514019.1_Missense_Mutation_p.R623Q|UGT2A1_ENST00000286604.4_Missense_Mutation_p.R457Q|UGT2A2_ENST00000457664.2_Missense_Mutation_p.R466Q|UGT2A1_ENST00000512704.1_Missense_Mutation_p.R413Q|UGT2A1_ENST00000502343.1_5'Flank	NM_006798.3	NP_006789.2	Q9Y4X1	UD2A1_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide A1, complex locus	457					cellular glucuronidation (GO:0052695)|detection of chemical stimulus (GO:0009593)|metabolic process (GO:0008152)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(1)|skin(2)	30						GAAGACTGCTCGATCCAGGGG	0.448																																						ENST00000503640.1																			0				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(1)|skin(2)	30						c.(1369-1371)cGa>cAa		UDP glucuronosyltransferase 2 family, polypeptide A1, complex locus							118	120	120					4																	70455304		2203	4300	6503	SO:0001583	missense	10941				detection of chemical stimulus|sensory perception of smell	integral to membrane	glucuronosyltransferase activity	g.chr4:70455304C>T	AJ006054	CCDS3529.1, CCDS58901.1, CCDS58902.1	4q13	2013-03-28	2010-12-02					"UDP glucuronosyltransferases"	12542	protein-coding gene	gene with protein product		604716	"UDP glycosyltransferase 2 family, polypeptide A1", "UDP glucuronosyltransferase 2 family, polypeptide A1"			10359671	Standard	NM_001252274		Approved		uc011caq.2	Q9Y4X1	OTTHUMG00000184942	ENST00000503640.1:c.1370G>A	4.37:g.70455304C>T	ENSP00000424478:p.Arg457Gln					UGT2A1_ENST00000514019.1_Missense_Mutation_p.R623Q|UGT2A1_ENST00000286604.4_Missense_Mutation_p.R457Q|UGT2A2_ENST00000457664.2_Missense_Mutation_p.R466Q|UGT2A1_ENST00000512704.1_Missense_Mutation_p.R413Q	p.R457Q	NM_006798.3	NP_006789.2	Q9Y4X1	UD2A1_HUMAN			6	1425	-			457					B4E2F4|D3GER1|D3GER2|E9PDM7|J3KNA3	Missense_Mutation	SNP	ENST00000503640.1	37	c.1370G>A	CCDS3529.1	.	.	.	.	.	.	.	.	.	.	C	15.86	2.956625	0.53293	.	.	ENSG00000173610	ENST00000457664;ENST00000503640;ENST00000512704;ENST00000514019;ENST00000286604	T;T;T;T;T	0.62788	0.0;0.0;0.0;0.0;0.03	4.65	4.65	0.58169	.	0.238654	0.38272	N	0.001747	T	0.59595	0.2205	L	0.43598	1.365	.	.	.	P;P;D;B;P	0.52996	0.916;0.945;0.957;0.341;0.65	B;P;B;B;B	0.46940	0.387;0.532;0.298;0.024;0.119	T	0.65738	-0.6095	9	0.30854	T	0.27	.	15.8962	0.79336	0.0:1.0:0.0:0.0	.	623;623;413;466;457	E9PDM7;B4E2F4;D6RFW5;Q9Y4X1-2;Q9Y4X1	.;.;.;.;UD2A1_HUMAN	Q	466;457;413;623;457	ENSP00000387888:R466Q;ENSP00000424478:R457Q;ENSP00000421432:R413Q;ENSP00000425497:R623Q;ENSP00000286604:R457Q	ENSP00000286604:R457Q	R	-	2	0	UGT2A1	70489893	0.975000	0.34042	1.000000	0.80357	0.993000	0.82548	0.988000	0.29616	2.526000	0.85167	0.579000	0.79373	CGA		0.448	UGT2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251554.3	NM_006798		4	165	0	0	0	1	0	4	165					T	70455304	C	T	70455304	3	4	124	1	0	0	0	0	1	0	0	0	16950	884	31	2	217	2	UGT2A1	4	70455304	Missense_Mutation	SNP	C	TCGA-EJ-A65M-01A-11D-A29Q-08	31006486	70455304	120698972	13	6519											
PLAC8	51316	broad.mit.edu	37	chr4	84015882	84015882	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttctgttgatatctctcttGatttggcaaagagtacaatg	10	16	8	7	0	3	3	0	2	3	1	4	3	3	3	0	1	1	3	0	1	4	6			TCGA-EJ-A65M-01A-11D-A29Q-08	TCGA-EJ-A65M-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cea7ce0-744e-4962-ac48-f1944c48e13f	600ca654-1eb6-4434-bba1-210e230b973a	g.chr4:84015882G>T	ENST00000509973.1	-	3	258	c.135C>A	c.(133-135)atC>atA	p.I45I	PLAC8_ENST00000426923.2_Silent_p.I102I|PLAC8_ENST00000505406.1_Silent_p.I102I|PLAC8_ENST00000411416.2_Silent_p.I102I|PLAC8_ENST00000515389.1_5'UTR|PLAC8_ENST00000311507.4_Silent_p.I102I			Q9UHV8	PP13_HUMAN	placenta-specific 8	0	Galectin. {ECO:0000255|PROSITE- ProRule:PRU00639}.				apoptotic process (GO:0006915)|phospholipid metabolic process (GO:0006644)		carbohydrate binding (GO:0030246)|lysophospholipase activity (GO:0004622)			large_intestine(2)|lung(3)|ovary(1)	6		Hepatocellular(203;0.114)				TATCTCTCTTGATTTGGCAAA	0.353																																						ENST00000426923.2																			0				large_intestine(2)|lung(3)|ovary(1)	6						c.(304-306)atC>atA		placenta-specific 8							113	104	107					4																	84015882		2203	4300	6503	SO:0001819	synonymous_variant	51316							g.chr4:84015882G>T	AF208846	CCDS3601.1	4q21.22	2006-05-20			ENSG00000145287	ENSG00000145287			19254	protein-coding gene	gene with protein product		607515				12758124, 12384430	Standard	NM_016619		Approved	onzin, C15	uc003hoe.3	Q9NZF1	OTTHUMG00000130294	ENST00000509973.1:c.135C>A	4.37:g.84015882G>T						PLAC8_ENST00000515389.1_5'UTR|PLAC8_ENST00000509973.1_Silent_p.I45I|PLAC8_ENST00000411416.2_Silent_p.I102I|PLAC8_ENST00000311507.4_Silent_p.I102I|PLAC8_ENST00000505406.1_Silent_p.I102I	p.I102I	NM_001130715.1	NP_001124187.1	Q9NZF1	PLAC8_HUMAN			4	384	-		Hepatocellular(203;0.114)	102					C5HZ15	Silent	SNP	ENST00000509973.1	37	c.306C>A																																																																																					0.353	PLAC8-003	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000363078.1	NM_016619		5	44	1	0	0.0215528	1	0.0218744	5	44					T	84015882	G	T	84015882	2	4	124	1	0	0	0	0	0	0	0	1	12015	1280	45	5		5	PLAC8	4	84015882	Silent	SNP	G	TCGA-EJ-A65M-01A-11D-A29Q-08	13560578	84015882	107138394	14	6520											
RAI14	26064	broad.mit.edu	37	chr5	34824457	34824457	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggtgaaaagagaaaaggaaaAtattcagactctcttgaaat	19	9	9	4	0	2	4	1	2	1	2	3	6	2	5	0	2	0	0	0	2	8	3			TCGA-EJ-A65M-01A-11D-A29Q-08	TCGA-EJ-A65M-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cea7ce0-744e-4962-ac48-f1944c48e13f	600ca654-1eb6-4434-bba1-210e230b973a	g.chr5:34824457A>C	ENST00000265109.3	+	15	2797	c.2510A>C	c.(2509-2511)aAt>aCt	p.N837T	RAI14_ENST00000503673.1_Missense_Mutation_p.N837T|RAI14_ENST00000512629.1_Missense_Mutation_p.N808T|RAI14_ENST00000515799.1_Missense_Mutation_p.N840T|RAI14_ENST00000397449.1_Missense_Mutation_p.N830T|RAI14_ENST00000428746.2_Missense_Mutation_p.N837T|RAI14_ENST00000506376.1_Missense_Mutation_p.N829T	NM_001145522.1|NM_015577.2	NP_001138994.1|NP_056392.2	Q9P0K7	RAI14_HUMAN	retinoic acid induced 14	837						actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(19)|lung(22)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(31;0.000191)					GAAAAGGAAAATATTCAGACT	0.383																																						ENST00000265109.3																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(19)|lung(22)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						c.(2509-2511)aAt>aCt		retinoic acid induced 14							73	78	76					5																	34824457		2203	4300	6503	SO:0001583	missense	26064					cell cortex|cytoskeleton	protein binding	g.chr5:34824457A>C	AB037755	CCDS34142.1, CCDS54837.1, CCDS54838.1, CCDS54839.1	5p13.3-p13.2	2013-01-10			ENSG00000039560	ENSG00000039560		"Ankyrin repeat domain containing"	14873	protein-coding gene	gene with protein product	"novel retinal pigment epithelial"	606586				11042181	Standard	NM_015577		Approved	NORPEG, KIAA1334, RAI13, DKFZp564G013	uc011coj.2	Q9P0K7	OTTHUMG00000162019	ENST00000265109.3:c.2510A>C	5.37:g.34824457A>C	ENSP00000265109:p.Asn837Thr					RAI14_ENST00000506376.1_Missense_Mutation_p.N829T|RAI14_ENST00000512629.1_Missense_Mutation_p.N808T|RAI14_ENST00000397449.1_Missense_Mutation_p.N830T|RAI14_ENST00000503673.1_Missense_Mutation_p.N837T|RAI14_ENST00000515799.1_Missense_Mutation_p.N840T|RAI14_ENST00000428746.2_Missense_Mutation_p.N837T	p.N837T	NM_001145522.1|NM_015577.2	NP_001138994.1|NP_056392.2	Q9P0K7	RAI14_HUMAN			15	2797	+	all_lung(31;0.000191)		837					E9PED3|Q6V1W9|Q7Z5I4|Q7Z733|Q9P2L2|Q9Y3T5	Missense_Mutation	SNP	ENST00000265109.3	37	c.2510A>C	CCDS34142.1	.	.	.	.	.	.	.	.	.	.	A	0.990	-0.694305	0.03303	.	.	ENSG00000039560	ENST00000265109;ENST00000512629;ENST00000428746;ENST00000503673;ENST00000515799;ENST00000506376;ENST00000397449	T;T;T;T;T;T;T	0.35973	1.3;1.28;1.3;1.3;1.29;1.34;1.33	5.48	-0.364	0.12553	.	.	.	.	.	T	0.23572	0.0570	L	0.47716	1.5	0.09310	N	1	B;B;B;B	0.10296	0.003;0.002;0.002;0.002	B;B;B;B	0.11329	0.004;0.001;0.006;0.003	T	0.28554	-1.0040	9	0.18710	T	0.47	-10.9589	1.7995	0.03068	0.4368:0.2602:0.1888:0.1141	.	829;808;840;837	Q9P0K7-3;E9PED3;Q9P0K7-2;Q9P0K7	.;.;.;RAI14_HUMAN	T	837;808;837;837;840;829;830	ENSP00000265109:N837T;ENSP00000422377:N808T;ENSP00000388725:N837T;ENSP00000422942:N837T;ENSP00000427123:N840T;ENSP00000423854:N829T;ENSP00000380591:N830T	ENSP00000265109:N837T	N	+	2	0	RAI14	34860214	0.126000	0.22350	0.041000	0.18516	0.974000	0.67602	0.833000	0.27504	0.033000	0.15463	-0.451000	0.05528	AAT		0.383	RAI14-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366786.1	NM_015577		31	97	0	0	0	1	0	31	97					C	34824457	A	C	34824457	3	2	124	1	0	0	0	0	1	0	0	0	13008	101	4	5	2629	5	RAI14	5	34824457	Missense_Mutation	SNP	A	TCGA-EJ-A65M-01A-11D-A29Q-08		34824457	146090803	15	6521											
VCAN	1462	broad.mit.edu	37	chr5	82836888	82836888	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attagacgttttacttcccaCggcaacatccctgccaattc	10	12	5	14	2	0	1	0	0	0	1	3	1	2	1	3	1	3	2	3	1	4	5	rs182041589		TCGA-EJ-A65M-01A-11D-A29Q-08	TCGA-EJ-A65M-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cea7ce0-744e-4962-ac48-f1944c48e13f	600ca654-1eb6-4434-bba1-210e230b973a	g.chr5:82836888C>T	ENST00000265077.3	+	8	8631	c.8066C>T	c.(8065-8067)aCg>aTg	p.T2689M	VCAN_ENST00000342785.4_Intron|VCAN_ENST00000512590.2_Intron|VCAN_ENST00000513016.1_3'UTR|VCAN_ENST00000343200.5_Missense_Mutation_p.T1702M|VCAN-AS1_ENST00000513899.1_RNA|VCAN_ENST00000502527.2_Intron|VCAN-AS1_ENST00000512090.1_RNA	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	2689	GAG-beta.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|cell recognition (GO:0008037)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|heart development (GO:0007507)|multicellular organismal development (GO:0007275)|osteoblast differentiation (GO:0001649)|small molecule metabolic process (GO:0044281)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|glycosaminoglycan binding (GO:0005539)|hyaluronic acid binding (GO:0005540)			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	Hyaluronan(DB08818)	TTACTTCCCACGGCAACATCC	0.438													C|||	1	0.000199681	0	0	5008	,	,		21401	0.001		0	False		,,,				2504	0					ENST00000265077.3																			0				NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190						c.(8065-8067)aCg>aTg		versican							109	101	104					5																	82836888		2202	4299	6501	SO:0001583	missense	1462				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding	g.chr5:82836888C>T	X15998	CCDS4060.1, CCDS47242.1, CCDS54875.1, CCDS54876.1	5q14.2-q14.3	2013-05-07	2007-02-15	2007-02-15	ENSG00000038427	ENSG00000038427		"Immunoglobulin superfamily / V-set domain containing", "Proteoglycans / Extracellular Matrix : Hyalectans"	2464	protein-coding gene	gene with protein product	"versican proteoglycan"	118661	"chondroitin sulfate proteoglycan 2"	CSPG2		1478664, 21063030	Standard	NM_004385		Approved	PG-M	uc003kii.3	P13611	OTTHUMG00000131321	ENST00000265077.3:c.8066C>T	5.37:g.82836888C>T	ENSP00000265077:p.Thr2689Met					VCAN_ENST00000512590.2_Intron|VCAN_ENST00000343200.5_Missense_Mutation_p.T1702M|VCAN_ENST00000342785.4_Intron|VCAN_ENST00000513016.1_3'UTR|VCAN-AS1_ENST00000512090.1_RNA|VCAN_ENST00000502527.2_Intron	p.T2689M	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	8	8631	+		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)	2689			GAG-beta.		P20754|Q13010|Q13189|Q15123|Q9UCL9|Q9UNW5	Missense_Mutation	SNP	ENST00000265077.3	37	c.8066C>T	CCDS4060.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	12.93	2.086156	0.36855	.	.	ENSG00000038427	ENST00000265077;ENST00000343200	T;T	0.38887	1.11;1.11	6.17	6.17	0.99709	.	0.000000	0.64402	D	0.000003	T	0.66247	0.2770	M	0.71581	2.175	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.65393	-0.6179	10	0.66056	D	0.02	.	18.6676	0.91497	0.0:1.0:0.0:0.0	.	1702;2689	P13611-2;P13611	.;CSPG2_HUMAN	M	2689;1702	ENSP00000265077:T2689M;ENSP00000340062:T1702M	ENSP00000265077:T2689M	T	+	2	0	VCAN	82872644	0.917000	0.31117	0.978000	0.43139	0.284000	0.27059	1.733000	0.38156	2.941000	0.99782	0.655000	0.94253	ACG		0.438	VCAN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254092.3	NM_004385		23	112	0	0	0	1	0	23	112					T	82836888	C	T	82836888	3	4	124	1	0	0	0	0	1	0	0	0	17135	536	19	1	8092	1	VCAN	5	82836888	Missense_Mutation	SNP	C	TCGA-EJ-A65M-01A-11D-A29Q-08	48012431	82836888	98078372	16	6522											
PCDHB16	57717	broad.mit.edu	37	chr5	140563340	140563340	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcagtcaagaacttttacacCttggtaacggagagagcact	13	10	9	9	1	2	2	2	0	0	2	2	4	2	3	1	2	4	2	1	2	4	4	rs376322288		TCGA-EJ-A65M-01A-11D-A29Q-08	TCGA-EJ-A65M-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cea7ce0-744e-4962-ac48-f1944c48e13f	600ca654-1eb6-4434-bba1-210e230b973a	g.chr5:140563340C>A	ENST00000361016.2	+	1	2361	c.1206C>A	c.(1204-1206)acC>acA	p.T402T		NM_020957.1	NP_066008.1	Q9NRJ7	PCDBG_HUMAN	protocadherin beta 16	402	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|endometrium(10)|kidney(3)|large_intestine(14)|lung(29)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|urinary_tract(1)	69			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACTTTTACACCTTGGTAACGG	0.473																																						ENST00000361016.2																			0				breast(1)|endometrium(10)|kidney(3)|large_intestine(14)|lung(29)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|urinary_tract(1)	69						c.(1204-1206)acC>acA									86	93	90					5																	140563340		2203	4300	6503	SO:0001819	synonymous_variant	0				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140563340C>A	AF217757	CCDS4251.1	5q31	2014-04-11			ENSG00000196963			"Cadherins / Protocadherins : Clustered"	14546	other	protocadherin	"cadherin ME1", "protocadherin-3x", "PCDHbeta 16"	606345				11230163, 11322959	Standard	NM_020957		Approved	PCDHB8a, PCDH3X, KIAA1621, PCDH-BETA16, ME1	uc003liv.3	Q9NRJ7	OTTHUMG00000188325	ENST00000361016.2:c.1206C>A	5.37:g.140563340C>A							p.T402T	NM_020957.1	NP_066008.1	Q9NRJ7	PCDBG_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	2361	+			402			Cadherin 4.		B3KPK5|Q8IYD5|Q96SE9|Q9HCF1	Silent	SNP	ENST00000361016.2	37	c.1206C>A	CCDS4251.1																																																																																				0.473	PCDHB16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251800.1	NM_020957		21	91	1	0	8.10497e-08	1	9.03505e-08	21	91					A	140563340	C	A	140563340	2	1	124	1	0	0	0	0	0	0	0	1	11541	668	24	5		5	PCDHB16	5	140563340	Silent	SNP	C	TCGA-EJ-A65M-01A-11D-A29Q-08	57726452	140563340	40351920	17	6523											
ARAP3	64411	broad.mit.edu	37	chr5	141049577	141049577	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	gaggggttcagggctgttttCcgatgcaaacatttccagag	9	11	13	8	1	1	1	1	0	0	1	3	3	3	1	2	3	2	4	2	3	1	4			TCGA-EJ-A65M-01A-11D-A29Q-08	TCGA-EJ-A65M-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cea7ce0-744e-4962-ac48-f1944c48e13f	600ca654-1eb6-4434-bba1-210e230b973a	g.chr5:141049577C>G	ENST00000239440.4	-	15	2226	c.2161G>C	c.(2161-2163)Gaa>Caa	p.E721Q	ARAP3_ENST00000513878.1_Missense_Mutation_p.E383Q|ARAP3_ENST00000508305.1_Missense_Mutation_p.E623Q	NM_022481.5	NP_071926.4	Q8WWN8	ARAP3_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3	721					cytoskeleton organization (GO:0007010)|negative regulation of cell migration (GO:0030336)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Rho protein signal transduction (GO:0035024)|regulation of ARF GTPase activity (GO:0032312)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|Rho GTPase activator activity (GO:0005100)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)	53						GGGCTGTTTTCCGATGCAAAC	0.587																																						ENST00000239440.4																			0				NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)	53						c.(2161-2163)Gaa>Caa		ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3							62	67	65					5																	141049577		2203	4300	6503	SO:0001583	missense	64411				cytoskeleton organization|negative regulation of cell migration|negative regulation of Rho protein signal transduction|regulation of ARF GTPase activity|regulation of cell shape|small GTPase mediated signal transduction|vesicle-mediated transport	cytoskeleton|cytosol|lamellipodium|plasma membrane|ruffle	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|Rho GTPase activator activity|zinc ion binding	g.chr5:141049577C>G	AJ310567	CCDS4266.1	5q31.3	2013-01-11	2008-09-22	2008-09-22	ENSG00000120318	ENSG00000120318		"ADP-ribosylation factor GTPase activating proteins", "Sterile alpha motif (SAM) domain containing", "Pleckstrin homology (PH) domain containing", "Ankyrin repeat domain containing"	24097	protein-coding gene	gene with protein product		606647	"centaurin, delta 3"	CENTD3		11804589, 12015138	Standard	XM_005268497		Approved	FLJ21065, DRAG1	uc003llm.3	Q8WWN8	OTTHUMG00000129610	ENST00000239440.4:c.2161G>C	5.37:g.141049577C>G	ENSP00000239440:p.Glu721Gln					ARAP3_ENST00000513878.1_Missense_Mutation_p.E383Q|ARAP3_ENST00000508305.1_Missense_Mutation_p.E623Q	p.E721Q	NM_022481.5	NP_071926.4	Q8WWN8	ARAP3_HUMAN			15	2226	-			721					B4DIT1|D3DQE3	Missense_Mutation	SNP	ENST00000239440.4	37	c.2161G>C	CCDS4266.1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.288793	0.80914	.	.	ENSG00000120318	ENST00000508305;ENST00000239440;ENST00000513878	T;T;T	0.13901	2.55;2.55;2.55	5.14	5.14	0.70334	Pleckstrin homology domain (1);	0.243603	0.39834	N	0.001248	T	0.34250	0.0891	M	0.62723	1.935	0.37899	D	0.930989	D;D;D	0.76494	0.999;0.996;0.985	D;P;P	0.66196	0.942;0.889;0.715	T	0.15464	-1.0436	10	0.54805	T	0.06	.	17.145	0.86764	0.0:1.0:0.0:0.0	.	383;623;721	B4DIT1;G5E9Y3;Q8WWN8	.;.;ARAP3_HUMAN	Q	623;721;383	ENSP00000421826:E623Q;ENSP00000239440:E721Q;ENSP00000421468:E383Q	ENSP00000239440:E721Q	E	-	1	0	ARAP3	141029761	0.998000	0.40836	0.991000	0.47740	0.808000	0.45660	4.158000	0.58150	2.389000	0.81357	0.557000	0.71058	GAA		0.587	ARAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251805.1	NM_022481		8	95	0	0	0	1	0	8	95					G	141049577	C	G	141049577	3	3	124	1	0	0	0	0	1	0	0	0	840	864	30	5	2549	5	ARAP3	5	141049577	Missense_Mutation	SNP	C	TCGA-EJ-A65M-01A-11D-A29Q-08	486237	141049577	39865683	18	6524											
PKHD1	5314	broad.mit.edu	37	chr6	51613289	51613289	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggccagctgtgccaaacacaAtattgtcatttaaaagtact	14	11	7	9	0	1	0	1	0	0	0	1	0	1	0	2	1	4	2	2	1	6	5			TCGA-EJ-A65M-01A-11D-A29Q-08	TCGA-EJ-A65M-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cea7ce0-744e-4962-ac48-f1944c48e13f	600ca654-1eb6-4434-bba1-210e230b973a	g.chr6:51613289A>G	ENST00000371117.3	-	58	9400	c.9125T>C	c.(9124-9126)aTt>aCt	p.I3042T	PKHD1_ENST00000340994.4_Missense_Mutation_p.I3042T	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	3042					cellular calcium ion homeostasis (GO:0006874)|cilium assembly (GO:0042384)|homeostatic process (GO:0042592)|kidney development (GO:0001822)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular component movement (GO:0051271)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of cell proliferation (GO:0008284)|regulation of centrosome duplication (GO:0010824)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of TOR signaling (GO:0032006)|single organismal cell-cell adhesion (GO:0016337)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|primary cilium (GO:0072372)	receptor activity (GO:0004872)			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					GCCAAACACAATATTGTCATT	0.498																																						ENST00000371117.3																			0				NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304						c.(9124-9126)aTt>aCt		polycystic kidney and hepatic disease 1 (autosomal recessive)							71	66	67					6																	51613289		2203	4300	6503	SO:0001583	missense	5314				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity	g.chr6:51613289A>G	AF480064	CCDS4935.1, CCDS4936.1	6p21.2-p12	2012-11-26	2003-04-16		ENSG00000170927	ENSG00000170927			9016	protein-coding gene	gene with protein product	"tigmin", "polyductin", "fibrocystin"	606702	"TIG multiple domains 1"	TIGM1		9503014	Standard	NM_138694		Approved	ARPKD, FCYT	uc003pah.1	P08F94	OTTHUMG00000014841	ENST00000371117.3:c.9125T>C	6.37:g.51613289A>G	ENSP00000360158:p.Ile3042Thr					PKHD1_ENST00000340994.4_Missense_Mutation_p.I3042T	p.I3042T	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN			58	9400	-	Lung NSC(77;0.0605)		3042					Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Missense_Mutation	SNP	ENST00000371117.3	37	c.9125T>C	CCDS4935.1	.	.	.	.	.	.	.	.	.	.	A	11.34	1.610022	0.28712	.	.	ENSG00000170927	ENST00000371117;ENST00000340994;ENST00000393616	T;T	0.76709	-1.04;-1.04	5.86	5.86	0.93980	Pectin lyase fold/virulence factor (1);Pectin lyase fold (1);	0.369895	0.28431	N	0.015373	T	0.71358	0.3330	M	0.72894	2.215	0.09310	N	1	P;P;P	0.48834	0.916;0.897;0.916	B;B;B	0.44224	0.418;0.444;0.418	T	0.71241	-0.4651	10	0.72032	D	0.01	.	15.448	0.75248	1.0:0.0:0.0:0.0	.	3042;3042;3042	A8MVM9;P08F94-2;P08F94	.;.;PKHD1_HUMAN	T	3042	ENSP00000360158:I3042T;ENSP00000341097:I3042T	ENSP00000341097:I3042T	I	-	2	0	PKHD1	51721248	0.144000	0.22641	0.036000	0.18154	0.022000	0.10575	4.564000	0.60830	2.240000	0.73641	0.533000	0.62120	ATT		0.498	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040893.1	NM_138694		26	79	0	0	0	1	0	26	79					G	51613289	A	G	51613289	3	3	124	1	0	0	0	0	1	0	0	0	11971	101	4	4	3178	4	PKHD1	6	51613289	Missense_Mutation	SNP	A	TCGA-EJ-A65M-01A-11D-A29Q-08		51613289	119501778	19	6525											
DST	667	broad.mit.edu	37	chr6	56373517	56373517	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagtgtgtgtatgttctccCaaatgaaaaccatttggtca	11	13	8	9	0	2	1	1	1	1	0	3	1	2	1	3	1	1	2	3	1	4	3			TCGA-EJ-A65M-01A-11D-A29Q-08	TCGA-EJ-A65M-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cea7ce0-744e-4962-ac48-f1944c48e13f	600ca654-1eb6-4434-bba1-210e230b973a	g.chr6:56373517C>T	ENST00000361203.3	-	70	18096	c.18089G>A	c.(18088-18090)tGg>tAg	p.W6030*	DST_ENST00000370769.4_Nonsense_Mutation_p.W6141*|DST_ENST00000446842.2_Nonsense_Mutation_p.W5815*|DST_ENST00000370788.2_Nonsense_Mutation_p.W3944*|DST_ENST00000244364.6_Nonsense_Mutation_p.W3727*|DST_ENST00000370754.5_Nonsense_Mutation_p.W6319*|DST_ENST00000312431.6_3'UTR|DST_ENST00000421834.2_Nonsense_Mutation_p.W4053*|DST_ENST00000340834.4_5'UTR			Q03001	DYST_HUMAN	dystonin	6026					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TATGTTCTCCCAAATGAAAAC	0.438																																						ENST00000370754.5																			0				NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105						c.(18955-18957)tGg>tAg		dystonin							134	135	135					6																	56373517		1933	4140	6073	SO:0001587	stop_gained	667				cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity	g.chr6:56373517C>T	M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"EF-hand domain containing"	1090	protein-coding gene	gene with protein product		113810	"bullous pemphigoid antigen 1, 230/240kDa"	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000361203.3:c.18089G>A	6.37:g.56373517C>T	ENSP00000354508:p.Trp6030*					DST_ENST00000370788.2_Nonsense_Mutation_p.W3944*|DST_ENST00000312431.6_3'UTR|DST_ENST00000340834.4_5'UTR|DST_ENST00000361203.3_Nonsense_Mutation_p.W6030*|DST_ENST00000446842.2_Nonsense_Mutation_p.W5815*|DST_ENST00000370769.4_Nonsense_Mutation_p.W6141*|DST_ENST00000421834.2_Nonsense_Mutation_p.W4053*|DST_ENST00000244364.6_Nonsense_Mutation_p.W3727*	p.W6319*			Q03001	DYST_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)		75	18955	-	Lung NSC(77;0.103)		6139					B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Nonsense_Mutation	SNP	ENST00000361203.3	37	c.18956G>A		.	.	.	.	.	.	.	.	.	.	C	57	30.121814	0.99977	.	.	ENSG00000151914	ENST00000244364;ENST00000370754;ENST00000370769;ENST00000421834;ENST00000446842;ENST00000370788;ENST00000361203;ENST00000537444	.	.	.	5.84	5.84	0.93424	.	0.000000	0.51477	D	0.000087	.	.	.	.	.	.	0.80722	A	1.000000	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	20.1392	0.98050	0.0:1.0:0.0:0.0	.	.	.	.	X	3727;6319;6141;4053;5815;3944;6030;143	.	ENSP00000244364:W3727X	W	-	2	0	DST	56481476	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.818000	0.86416	2.765000	0.95021	0.557000	0.71058	TGG		0.438	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000041021.3	NM_001723		25	67	0	0	0	1	0	25	67					T	56373517	C	T	56373517	4	4	124	1	0	0	0	0	0	1	0	0	4783	595	21	3	4451	3	DST	6	56373517	Nonsense_Mutation	SNP	C	TCGA-EJ-A65M-01A-11D-A29Q-08	4760228	56373517	114741550	20	6526											
SYNE1	23345	broad.mit.edu	37	chr6	152469436	152469436	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ctgtctgcagagcggtcgtgCcagtgcaggtccgacagagc	7	7	15	12	3	1	2	0	0	1	2	3	3	2	2	2	2	5	2	2	2	0	0			TCGA-EJ-A65M-01A-11D-A29Q-08	TCGA-EJ-A65M-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cea7ce0-744e-4962-ac48-f1944c48e13f	600ca654-1eb6-4434-bba1-210e230b973a	g.chr6:152469436C>T	ENST00000367255.5	-	137	25321	c.24720G>A	c.(24718-24720)tgG>tgA	p.W8240*	SYNE1_ENST00000347037.5_5'UTR|SYNE1_ENST00000356820.4_Nonsense_Mutation_p.W2764*|SYNE1_ENST00000448038.1_Nonsense_Mutation_p.W8169*|SYNE1_ENST00000354674.4_Nonsense_Mutation_p.W395*|SYNE1_ENST00000265368.4_Nonsense_Mutation_p.W8240*|SYNE1_ENST00000539504.1_Nonsense_Mutation_p.W395*|SYNE1_ENST00000423061.1_Nonsense_Mutation_p.W8169*|SYNE1_ENST00000341594.5_Nonsense_Mutation_p.W7852*	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	8240					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		AGCGGTCGTGCCAGTGCAGGT	0.617										HNSCC(10;0.0054)																												ENST00000367255.5																			0				NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524						c.(24718-24720)tgG>tgA		spectrin repeat containing, nuclear envelope 1							70	72	71					6																	152469436		2203	4300	6503	SO:0001587	stop_gained	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152469436C>T	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"myocyte nuclear envelope protein 1", "nuclear envelope spectrin repeat-1"	608441	"chromosome 6 open reading frame 98"	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.24720G>A	6.37:g.152469436C>T	ENSP00000356224:p.Trp8240*	HNSCC(10;0.0054)				SYNE1_ENST00000423061.1_Nonsense_Mutation_p.W8169*|SYNE1_ENST00000448038.1_Nonsense_Mutation_p.W8169*|SYNE1_ENST00000356820.4_Nonsense_Mutation_p.W2764*|SYNE1_ENST00000539504.1_Nonsense_Mutation_p.W395*|SYNE1_ENST00000347037.5_5'UTR|SYNE1_ENST00000265368.4_Nonsense_Mutation_p.W8240*|SYNE1_ENST00000341594.5_Nonsense_Mutation_p.W7852*|SYNE1_ENST00000354674.4_Nonsense_Mutation_p.W395*	p.W8240*	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	137	25321	-		Ovarian(120;0.0955)	8240					E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Nonsense_Mutation	SNP	ENST00000367255.5	37	c.24720G>A	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	C	50	16.716932	0.99870	.	.	ENSG00000131018	ENST00000367255;ENST00000539504;ENST00000367257;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000356820;ENST00000313630;ENST00000367247;ENST00000367251;ENST00000354674	.	.	.	5.4	5.4	0.78164	.	0.000000	0.51477	D	0.000090	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.1644	0.93548	0.0:1.0:0.0:0.0	.	.	.	.	X	8240;395;886;8169;8240;8169;7852;2764;402;397;1162;395	.	ENSP00000265368:W8240X	W	-	3	0	SYNE1	152511129	1.000000	0.71417	0.997000	0.53966	0.679000	0.39708	7.263000	0.78421	2.530000	0.85305	0.655000	0.94253	TGG		0.617	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		9	86	0	0	0	1	0	9	86					T	152469436	C	T	152469436	4	4	124	1	0	0	0	0	0	1	0	0	15442	740	26	3	1786	3	SYNE1	6	152469436	Nonsense_Mutation	SNP	C	TCGA-EJ-A65M-01A-11D-A29Q-08	96095919	152469436	18645631	21	6527											
ALKBH4	54784	broad.mit.edu	37	chr7	102100103	102100103	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aggggtcacggtccatgagcCgcaccaactcggcttcttcc	7	8	11	15	3	2	1	1	1	1	0	5	1	4	1	4	4	2	2	4	4	1	2			TCGA-EJ-A65M-01A-11D-A29Q-08	TCGA-EJ-A65M-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cea7ce0-744e-4962-ac48-f1944c48e13f	600ca654-1eb6-4434-bba1-210e230b973a	g.chr7:102100103C>T	ENST00000292566.3	-	2	308	c.269G>A	c.(268-270)cGg>cAg	p.R90Q		NM_017621.3	NP_060091.1	Q9NXW9	ALKB4_HUMAN	alkB, alkylation repair homolog 4 (E. coli)	90					actomyosin structure organization (GO:0031032)|cleavage furrow ingression (GO:0036090)|protein demethylation (GO:0006482)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	contractile ring (GO:0070938)|cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleus (GO:0005634)	actin binding (GO:0003779)|demethylase activity (GO:0032451)|metal ion binding (GO:0046872)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)			kidney(1)|lung(5)|skin(2)	8						GTCCATGAGCCGCACCAACTC	0.627																																						ENST00000292566.3																			0				kidney(1)|lung(5)|skin(2)	8						c.(268-270)cGg>cAg		alkB, alkylation repair homolog 4 (E. coli)							116	104	108					7																	102100103		2203	4300	6503	SO:0001583	missense	54784					cytoplasm|nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr7:102100103C>T	BC017096	CCDS5723.1	7q22.1	2006-02-09			ENSG00000160993	ENSG00000160993		"Alkylation repair homologs"	21900	protein-coding gene	gene with protein product		613302					Standard	NM_017621		Approved	FLJ20013	uc003uzl.3	Q9NXW9	OTTHUMG00000157720	ENST00000292566.3:c.269G>A	7.37:g.102100103C>T	ENSP00000292566:p.Arg90Gln						p.R90Q	NM_017621.3	NP_060091.1	Q9NXW9	ALKB4_HUMAN			2	308	-			90					Q53H92|Q9H6A4	Missense_Mutation	SNP	ENST00000292566.3	37	c.269G>A	CCDS5723.1	.	.	.	.	.	.	.	.	.	.	C	0.389	-0.924511	0.02377	.	.	ENSG00000160993	ENST00000292566	T	0.57107	0.42	3.99	0.996	0.19844	.	0.568413	0.18050	N	0.153309	T	0.27798	0.0684	N	0.20845	0.615	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.27434	-1.0074	10	0.02654	T	1	-11.9571	7.2496	0.26142	0.0:0.4814:0.0:0.5186	.	90	Q9NXW9	ALKB4_HUMAN	Q	90	ENSP00000292566:R90Q	ENSP00000292566:R90Q	R	-	2	0	ALKBH4	101887108	0.000000	0.05858	0.063000	0.19743	0.518000	0.34316	-0.026000	0.12392	-0.005000	0.14395	-0.258000	0.10820	CGG		0.627	ALKBH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349503.1	NM_017621		47	180	0	0	0	1	0	47	180					T	102100103	C	T	102100103	3	4	124	1	0	0	0	0	1	0	0	0	529	652	23	2	647	2	ALKBH4	7	102100103	Missense_Mutation	SNP	C	TCGA-EJ-A65M-01A-11D-A29Q-08		102100103	57038560	22	6528											
EZH2	2146	broad.mit.edu	37	chr7	148544345	148544345	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctgattttacacgcttccGccaacaaactggtcccttct	8	13	5	15	2	2	1	0	1	2	0	4	1	4	1	3	1	3	1	3	1	3	4			TCGA-EJ-A65M-01A-11D-A29Q-08	TCGA-EJ-A65M-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cea7ce0-744e-4962-ac48-f1944c48e13f	600ca654-1eb6-4434-bba1-210e230b973a	g.chr7:148544345G>A	ENST00000460911.1	-	2	134	c.46C>T	c.(46-48)Cgg>Tgg	p.R16W	EZH2_ENST00000476773.1_Missense_Mutation_p.R16W|EZH2_ENST00000536783.1_5'UTR|EZH2_ENST00000541220.1_Missense_Mutation_p.R16W|EZH2_ENST00000350995.2_Missense_Mutation_p.R16W|EZH2_ENST00000320356.2_Missense_Mutation_p.R16W|EZH2_ENST00000483967.1_Missense_Mutation_p.R16W|EZH2_ENST00000478654.1_Missense_Mutation_p.R16W			Q15910	EZH2_HUMAN	enhancer of zeste 2 polycomb repressive complex 2 subunit	16	Interaction with DNMT1, DNMT3A and DNMT3B.				cellular response to hydrogen peroxide (GO:0070301)|cerebellar cortex development (GO:0021695)|chromatin organization (GO:0006325)|DNA methylation (GO:0006306)|G1 to G0 transition (GO:0070314)|histone H3-K27 methylation (GO:0070734)|negative regulation of epidermal cell differentiation (GO:0045605)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of gene expression, epigenetic (GO:0045814)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of striated muscle cell differentiation (GO:0051154)|negative regulation of transcription elongation from RNA polymerase II promoter (GO:0034244)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of Ras GTPase activity (GO:0032320)|protein localization to chromatin (GO:0071168)|regulation of cell proliferation (GO:0042127)|regulation of circadian rhythm (GO:0042752)|regulation of gliogenesis (GO:0014013)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|ESC/E(Z) complex (GO:0035098)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|pronucleus (GO:0045120)	chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|histone methyltransferase activity (GO:0042054)|histone methyltransferase activity (H3-K27 specific) (GO:0046976)|RNA binding (GO:0003723)|sequence-specific DNA binding (GO:0043565)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(313)|kidney(3)|large_intestine(8)|liver(1)|lung(23)|parathyroid(2)|skin(3)|upper_aerodigestive_tract(3)	359	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00239)			ACACGCTTCCGCCAACAAACT	0.388			Mis		DLBCL																																	ENST00000320356.2				Rec?	yes		7	7q35-q36	2146	Mis	enhancer of zeste homolog 2			L			DLBCL		0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(313)|kidney(3)|large_intestine(8)|liver(1)|lung(23)|parathyroid(2)|skin(3)|upper_aerodigestive_tract(3)	359						c.(46-48)Cgg>Tgg		enhancer of zeste homolog 2 (Drosophila)							203	202	202					7																	148544345		2203	4300	6503	SO:0001583	missense	0				negative regulation of retinoic acid receptor signaling pathway|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex	DNA binding|histone-lysine N-methyltransferase activity|protein binding	g.chr7:148544345G>A		CCDS5891.1, CCDS5892.1, CCDS56516.1, CCDS56517.1, CCDS56518.1	7q35-q36	2014-09-17	2014-05-28		ENSG00000106462	ENSG00000106462		"Chromatin-modifying enzymes / K-methyltransferases"	3527	protein-coding gene	gene with protein product		601573	"enhancer of zeste (Drosophila) homolog 2", "enhancer of zeste homolog 2 (Drosophila)"			8954776, 17172412	Standard	NM_152998		Approved	EZH1, ENX-1, KMT6, KMT6A	uc003wfb.2	Q15910	OTTHUMG00000158973	ENST00000460911.1:c.46C>T	7.37:g.148544345G>A	ENSP00000419711:p.Arg16Trp					EZH2_ENST00000483967.1_Missense_Mutation_p.R16W|EZH2_ENST00000460911.1_Missense_Mutation_p.R16W|EZH2_ENST00000350995.2_Missense_Mutation_p.R16W|EZH2_ENST00000536783.1_5'UTR|EZH2_ENST00000541220.1_Missense_Mutation_p.R16W|EZH2_ENST00000478654.1_Missense_Mutation_p.R16W|EZH2_ENST00000476773.1_Missense_Mutation_p.R16W	p.R16W	NM_001203247.1|NM_001203248.1|NM_004456.4	NP_001190176.1|NP_001190177.1|NP_004447.2	Q15910	EZH2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00239)		2	167	-	Melanoma(164;0.15)		16			Interaction with DNMT1, DNMT3A and DNMT3B.		B2RAQ1|B3KS30|B7Z1D6|B7Z7L6|Q15755|Q75MG3|Q92857|Q96FI6	Missense_Mutation	SNP	ENST00000460911.1	37	c.46C>T	CCDS56516.1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.328305	0.81690	.	.	ENSG00000106462	ENST00000478654;ENST00000320356;ENST00000460911;ENST00000350995;ENST00000541220;ENST00000476773;ENST00000483967	D;D;D;D;D;D;D	0.95035	-3.57;-3.57;-3.57;-3.59;-3.57;-3.57;-3.57	5.84	5.84	0.93424	.	0.054003	0.64402	D	0.000001	D	0.95207	0.8446	L	0.34521	1.04	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;0.999;0.999;0.998;0.999;0.999	D;D;D;D;D;D	0.66847	0.947;0.946;0.946;0.92;0.946;0.929	D	0.95583	0.8648	10	0.87932	D	0	.	16.4093	0.83701	0.0:0.0:0.868:0.132	.	16;16;16;16;16;16	B7Z8K5;Q15910-4;Q15910-5;Q15910;Q15910-3;Q15910-2	.;.;.;EZH2_HUMAN;.;.	W	16	ENSP00000417062:R16W;ENSP00000320147:R16W;ENSP00000419711:R16W;ENSP00000223193:R16W;ENSP00000443219:R16W;ENSP00000419050:R16W;ENSP00000419856:R16W	ENSP00000320147:R16W	R	-	1	2	EZH2	148175278	1.000000	0.71417	1.000000	0.80357	1.000000	0.99986	2.819000	0.48049	2.764000	0.94973	0.650000	0.86243	CGG		0.388	EZH2-008	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000352744.1	NM_004456		5	351	0	0	0	1	0	5	351					A	148544345	G	A	148544345	3	1	124	1	0	0	0	0	1	0	0	0	5334	1086	38	1	2285	1	EZH2	7	148544345	Missense_Mutation	SNP	G	TCGA-EJ-A65M-01A-11D-A29Q-08	46444242	148544345	10594318	23	6529											
WDR60	55112	broad.mit.edu	37	chr7	158716310	158716310	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aagcatttttactgtttgccGgaacagcgcacggctcagtt	9	12	10	10	3	1	0	1	0	0	0	1	1	1	1	1	2	5	5	1	2	3	5			TCGA-EJ-A65M-01A-11D-A29Q-08	TCGA-EJ-A65M-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cea7ce0-744e-4962-ac48-f1944c48e13f	600ca654-1eb6-4434-bba1-210e230b973a	g.chr7:158716310G>A	ENST00000407559.3	+	17	2301	c.2143G>A	c.(2143-2145)Gga>Aga	p.G715R		NM_018051.4	NP_060521.4	Q8WVS4	WDR60_HUMAN	WD repeat domain 60	715					cell projection organization (GO:0030030)	cilium (GO:0005929)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				NS(3)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(4)|lung(16)|ovary(2)	35	Ovarian(565;0.152)	all_cancers(7;1.25e-09)|all_epithelial(9;0.000894)|all_hematologic(28;0.00603)	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)|STAD - Stomach adenocarcinoma(7;0.18)		ACTGTTTGCCGGAACAGCGCA	0.502																																						ENST00000407559.3																			0				NS(3)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(4)|lung(16)|ovary(2)	35						c.(2143-2145)Gga>Aga		WD repeat domain 60							144	148	146					7																	158716310		2177	4285	6462	SO:0001583	missense	55112							g.chr7:158716310G>A		CCDS47757.1	7q36.3	2013-11-15			ENSG00000126870	ENSG00000126870		"WD repeat domain containing"	21862	protein-coding gene	gene with protein product		615462				23910462	Standard	NM_018051		Approved	FLJ10300, FAP163	uc003woe.4	Q8WVS4	OTTHUMG00000151443	ENST00000407559.3:c.2143G>A	7.37:g.158716310G>A	ENSP00000384290:p.Gly715Arg						p.G715R	NM_018051.4	NP_060521.4	Q8WVS4	WDR60_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)|STAD - Stomach adenocarcinoma(7;0.18)	17	2301	+	Ovarian(565;0.152)	all_cancers(7;1.25e-09)|all_epithelial(9;0.000894)|all_hematologic(28;0.00603)	715					Q9NW58	Missense_Mutation	SNP	ENST00000407559.3	37	c.2143G>A	CCDS47757.1	.	.	.	.	.	.	.	.	.	.	G	10.28	1.305740	0.23736	.	.	ENSG00000126870	ENST00000407559	D	0.86164	-2.08	5.19	5.19	0.71726	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.94315	0.8173	M	0.87456	2.885	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.954	D	0.95188	0.8305	10	0.87932	D	0	-33.8171	17.2998	0.87180	0.0:0.0:1.0:0.0	.	198;715	A4D230;Q8WVS4	.;WDR60_HUMAN	R	715	ENSP00000384290:G715R	ENSP00000384290:G715R	G	+	1	0	WDR60	158409071	1.000000	0.71417	0.187000	0.23214	0.081000	0.17604	7.228000	0.78079	2.407000	0.81776	0.655000	0.94253	GGA		0.502	WDR60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322668.1	NM_018051		4	159	0	0	0	1	0	4	159					A	158716310	G	A	158716310	3	1	124	1	0	0	0	0	1	0	0	0	17308	1117	39	2	2209	2	WDR60	7	158716310	Missense_Mutation	SNP	G	TCGA-EJ-A65M-01A-11D-A29Q-08	10171965	158716310	422353	24	6530											
DLGAP2	9228	broad.mit.edu	37	chr8	1624784	1624784	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcaagtggaagatgagaagcGgtaactcagcccctcctgac	12	6	12	11	1	1	3	1	2	0	2	2	5	2	4	3	2	3	2	3	2	4	1			TCGA-EJ-A65M-01A-11D-A29Q-08	TCGA-EJ-A65M-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cea7ce0-744e-4962-ac48-f1944c48e13f	600ca654-1eb6-4434-bba1-210e230b973a	g.chr8:1624784G>A	ENST00000421627.2	+	8	2182	c.2048G>A	c.(2047-2049)cGa>cAa	p.R683Q		NM_004745.3	NP_004736.2	Q9P1A6	DLGP2_HUMAN	discs, large (Drosophila) homolog-associated protein 2	762					neuron-neuron synaptic transmission (GO:0007270)	cell junction (GO:0030054)|neurofilament (GO:0005883)|postsynaptic membrane (GO:0045211)				breast(1)|endometrium(6)|lung(31)|prostate(3)	41		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)		GATGAGAAGCGGTAACTCAGC	0.582																																						ENST00000421627.2																			0				breast(1)|endometrium(6)|lung(31)|prostate(3)	41						c.e8+1		discs, large (Drosophila) homolog-associated protein 2							33	36	35					8																	1624784		1911	4132	6043	SO:0001630	splice_region_variant	9228				neuron-neuron synaptic transmission	cell junction|neurofilament|postsynaptic density|postsynaptic membrane	protein binding	g.chr8:1624784G>A	AB000275	CCDS47760.1, CCDS75689.1	8p23	2007-12-06	2001-11-28		ENSG00000198010	ENSG00000198010			2906	protein-coding gene	gene with protein product		605438	"discs, large (Drosophila) homolog-associated protein 2"			9286858, 10854099	Standard	NM_004745		Approved	DAP-2	uc003wpl.4	Q9P1A6	OTTHUMG00000163599	ENST00000421627.2:c.2048+1G>A	8.37:g.1624784G>A							p.R683_splice	NM_004745.3	NP_004736.2	Q9P1A6	DLGP2_HUMAN		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)	8	2182	+		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)	762					A1QCF8|A1QCF9|A5D8Y2|O14488|O14664|Q9P1A7	Splice_Site	SNP	ENST00000421627.2	37	c.2048_splice	CCDS47760.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.19|19.19	3.779607|3.779607	0.70107|0.70107	.|.	.|.	ENSG00000198010|ENSG00000198010	ENST00000520901|ENST00000356067;ENST00000421627	.|T	.|0.17854	.|2.25	5.66|5.66	5.66|5.66	0.87406|0.87406	.|.	.|0.107337	.|0.64402	.|D	.|0.000010	T|T	0.42653|0.42653	0.1212|0.1212	M|M	0.77820|0.77820	2.39|2.39	0.43930|0.43930	D|D	0.99658|0.99658	.|D;D	.|0.67145	.|0.966;0.996	.|P;P	.|0.60609	.|0.487;0.877	T|T	0.17258|0.17258	-1.0375|-1.0375	5|10	.|0.44086	.|T	.|0.13	-4.6979|-4.6979	19.7475|19.7475	0.96257|0.96257	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|748;762	.|Q9P1A6-2;Q9P1A6	.|.;DLGP2_HUMAN	N|Q	686|714;683	.|ENSP00000400258:R683Q	.|ENSP00000348366:R714Q	D|R	+|+	1|2	0|0	DLGAP2|DLGAP2	1612191|1612191	1.000000|1.000000	0.71417|0.71417	0.988000|0.988000	0.46212|0.46212	0.063000|0.063000	0.16089|0.16089	7.616000|7.616000	0.83018|0.83018	2.659000|2.659000	0.90383|0.90383	0.563000|0.563000	0.77884|0.77884	GAC|CGA		0.582	DLGAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374478.1	NM_004745	Missense_Mutation	3	26	0	0	0	1	0	3	26					A	1624784	G	A	1624784	5	1	124	1	0	0	0	0	0	0	1	0	4560	1130	39	2	2074	2	DLGAP2	8	1624784	Splice_Site	SNP	G	TCGA-EJ-A65M-01A-11D-A29Q-08		1624784	144739238	25	6531											
RP1L1	94137	broad.mit.edu	37	chr8	10474068	10474068	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gcacacaccagcacagagggGctgtgcagcagggcctgcag	10	3	15	13	0	0	1	0	0	0	1	0	1	0	1	2	3	4	6	2	3	0	0			TCGA-EJ-A65M-01A-11D-A29Q-08	TCGA-EJ-A65M-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cea7ce0-744e-4962-ac48-f1944c48e13f	600ca654-1eb6-4434-bba1-210e230b973a	g.chr8:10474068G>T	ENST00000382483.3	-	3	862	c.639C>A	c.(637-639)agC>agA	p.S213R		NM_178857.5	NP_849188.4	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	213	Doublecortin 2. {ECO:0000255|PROSITE- ProRule:PRU00072}.				cell projection organization (GO:0030030)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|visual perception (GO:0007601)	axoneme (GO:0005930)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|photoreceptor connecting cilium (GO:0032391)|photoreceptor outer segment (GO:0001750)				breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		GCACAGAGGGGCTGTGCAGCA	0.632																																						ENST00000382483.3																			0				breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148						c.(637-639)agC>agA		retinitis pigmentosa 1-like 1							34	37	36					8																	10474068		1936	4137	6073	SO:0001583	missense	94137				intracellular signal transduction			g.chr8:10474068G>T	AY168346	CCDS43708.1	8p23.1	2011-12-06			ENSG00000183638	ENSG00000183638			15946	protein-coding gene	gene with protein product		608581				12634863	Standard	NM_178857		Approved	DCDC4B	uc003wtc.3	Q8IWN7	OTTHUMG00000163806	ENST00000382483.3:c.639C>A	8.37:g.10474068G>T	ENSP00000371923:p.Ser213Arg						p.S213R	NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN		COAD - Colon adenocarcinoma(149;0.0811)	3	862	-			213					Q86SQ1|Q8IWN8|Q8IWN9|Q8IWP0|Q8IWP1|Q8IWP2	Missense_Mutation	SNP	ENST00000382483.3	37	c.639C>A	CCDS43708.1	.	.	.	.	.	.	.	.	.	.	G	11.89	1.772595	0.31411	.	.	ENSG00000183638	ENST00000382483	D	0.86497	-2.13	4.3	3.39	0.38822	.	0.381500	0.19355	N	0.116292	D	0.90779	0.7105	M	0.65975	2.015	0.24638	N	0.99358	D	0.67145	0.996	D	0.71184	0.972	T	0.81890	-0.0725	10	0.66056	D	0.02	-5.3628	8.8611	0.35258	0.1784:0.0:0.8216:0.0	.	213	A6NKC6	.	R	213	ENSP00000371923:S213R	ENSP00000371923:S213R	S	-	3	2	RP1L1	10511478	1.000000	0.71417	0.539000	0.28077	0.134000	0.20937	1.231000	0.32624	2.228000	0.72767	0.313000	0.20887	AGC		0.632	RP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375673.1			14	45	1	0	4.3838e-07	1	4.80804e-07	14	45					T	10474068	G	T	10474068	3	4	124	1	0	0	0	0	1	0	0	0	13533	1194	42	5	6571	5	RP1L1	8	10474068	Missense_Mutation	SNP	G	TCGA-EJ-A65M-01A-11D-A29Q-08	8849284	10474068	135889954	26	6532											
OPLAH	26873	broad.mit.edu	37	chr8	145109715	145109715	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aggcgggcagcacccctcacCggtgtgataacagtcaggtc	9	6	13	13	2	2	1	2	1	0	0	3	1	2	1	3	4	2	2	3	4	1	1			TCGA-EJ-A65M-01A-11D-A29Q-08	TCGA-EJ-A65M-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cea7ce0-744e-4962-ac48-f1944c48e13f	600ca654-1eb6-4434-bba1-210e230b973a	g.chr8:145109715C>T	ENST00000426825.1	-	18	2592	c.2511G>A	c.(2509-2511)ccG>ccA	p.P837P	OPLAH_ENST00000534424.1_5'UTR	NM_017570.3	NP_060040.1	O14841	OPLA_HUMAN	5-oxoprolinase (ATP-hydrolysing)	837					glutathione biosynthetic process (GO:0006750)|glutathione derivative biosynthetic process (GO:1901687)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	5-oxoprolinase (ATP-hydrolyzing) activity (GO:0017168)|ATP binding (GO:0005524)			breast(1)|central_nervous_system(1)|endometrium(1)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	20	all_cancers(97;1.06e-10)|all_epithelial(106;1.5e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;2.24e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CACCCCTCACCGGTGTGATAA	0.672																																						ENST00000426825.1																			0				breast(1)|central_nervous_system(1)|endometrium(1)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	20						c.e18+1		5-oxoprolinase (ATP-hydrolysing)	L-Glutamic Acid(DB00142)						24	30	28					8																	145109715		2123	4235	6358	SO:0001630	splice_region_variant	26873						5-oxoprolinase (ATP-hydrolyzing) activity|ATP binding	g.chr8:145109715C>T	AF024672, AB122018	CCDS75802.1	8q24.3	2010-11-23			ENSG00000178814	ENSG00000178814	3.5.2.9		8149	protein-coding gene	gene with protein product		614243				14993790	Standard	NM_017570		Approved	OPLA, 5-Opase	uc003zar.3	O14841		ENST00000426825.1:c.2511+1G>A	8.37:g.145109715C>T						OPLAH_ENST00000534424.1_5'UTR	p.P837_splice	NM_017570.3	NP_060040.1	O14841	OPLA_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;2.24e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		18	2592	-	all_cancers(97;1.06e-10)|all_epithelial(106;1.5e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		837					A5PKY8|Q75W65|Q9Y4Q0	Splice_Site	SNP	ENST00000426825.1	37	c.2511_splice																																																																																					0.672	OPLAH-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_017570	Silent	14	52	0	0	0	1	0	14	52					T	145109715	C	T	145109715	5	4	124	1	0	0	0	0	0	0	1	0	10876	666	23	2	1397	2	OPLAH	8	145109715	Splice_Site	SNP	C	TCGA-EJ-A65M-01A-11D-A29Q-08	134635647	145109715	1254307	27	6533											
ZNF37A	7587	broad.mit.edu	37	chr10	38406449	38406449	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cttctgaatataataaaaatGggaacagcttctggctgaat	15	12	8	6	0	2	2	0	2	2	0	2	3	2	3	0	2	2	2	0	2	8	5			TCGA-EJ-A65M-01A-11D-A29Q-08	TCGA-EJ-A65M-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cea7ce0-744e-4962-ac48-f1944c48e13f	600ca654-1eb6-4434-bba1-210e230b973a	g.chr10:38406449G>T	ENST00000361085.5	+	7	715	c.370G>T	c.(370-372)Ggg>Tgg	p.G124W	ZNF37A_ENST00000351773.3_Missense_Mutation_p.G124W	NM_001178101.1|NM_003421.2	NP_001171572.1|NP_003412.1	P17032	ZN37A_HUMAN	zinc finger protein 37A	124					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|prostate(1)	28						TAATAAAAATGGGAACAGCTT	0.333																																						ENST00000351773.3																			0				NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|prostate(1)	28						c.(370-372)Ggg>Tgg		zinc finger protein 37A							72	84	80					10																	38406449		2202	4297	6499	SO:0001583	missense	7587					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr10:38406449G>T	X69115	CCDS31183.1	10p11.2	2013-01-08	2006-05-11		ENSG00000075407	ENSG00000075407		"Zinc fingers, C2H2-type", "-"	13102	protein-coding gene	gene with protein product			"zinc finger protein 37a (KOX 21)"			2014798, 8464732	Standard	NM_001178101		Approved	KOX21, ZNF37	uc001izl.3	P17032	OTTHUMG00000017990	ENST00000361085.5:c.370G>T	10.37:g.38406449G>T	ENSP00000354377:p.Gly124Trp					ZNF37A_ENST00000361085.4_Missense_Mutation_p.G124W	p.G124W	NM_001007094.2	NP_001007095.1	P17032	ZN37A_HUMAN			8	1200	+			124					B3KRQ3|D3DRZ3|Q96B88	Missense_Mutation	SNP	ENST00000361085.5	37	c.370G>T	CCDS31183.1	.	.	.	.	.	.	.	.	.	.	G	10.17	1.277067	0.23307	.	.	ENSG00000075407	ENST00000351773;ENST00000361085	T;T	0.08546	3.08;3.08	2.62	1.69	0.24217	.	.	.	.	.	T	0.23965	0.0580	M	0.86740	2.835	0.24983	N	0.991585	D	0.59767	0.986	P	0.57283	0.817	T	0.04347	-1.0958	9	0.87932	D	0	.	7.0475	0.25055	0.1529:0.0:0.8471:0.0	.	124	P17032	ZN37A_HUMAN	W	124	ENSP00000329141:G124W;ENSP00000354377:G124W	ENSP00000329141:G124W	G	+	1	0	ZNF37A	38446455	0.026000	0.19158	0.343000	0.25615	0.217000	0.24651	-0.284000	0.08422	1.468000	0.48064	0.591000	0.81541	GGG		0.333	ZNF37A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047624.2	NM_003421		13	170	1	0	0.0135373	1	0.0139475	13	170					T	38406449	G	T	38406449	3	4	124	1	0	0	0	0	1	0	0	0	17869	1348	47	5	384	5	ZNF37A	10	38406449	Missense_Mutation	SNP	G	TCGA-EJ-A65M-01A-11D-A29Q-08		38406449	97128298	28	6534											
GPRIN2	9721	broad.mit.edu	37	chr10	47000209	47000209	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ctgcgggctgtcatgcagtcCctgcggcgccccagctgctg	3	8	14	16	3	1	0	1	0	0	0	2	0	2	0	3	2	5	4	3	2	0	0			TCGA-EJ-A65M-01A-11D-A29Q-08	TCGA-EJ-A65M-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cea7ce0-744e-4962-ac48-f1944c48e13f	600ca654-1eb6-4434-bba1-210e230b973a	g.chr10:47000209C>T	ENST00000374317.1	+	3	1602	c.1329C>T	c.(1327-1329)tcC>tcT	p.S443S	GPRIN2_ENST00000374314.4_Silent_p.S443S	NM_014696.3	NP_055511.2	O60269	GRIN2_HUMAN	G protein regulated inducer of neurite outgrowth 2	443										breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)	18						TCATGCAGTCCCTGCGGCGCC	0.706																																						ENST00000374314.4																			0				breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)	18						c.(1327-1329)tcC>tcT		G protein regulated inducer of neurite outgrowth 2							13	13	13					10																	47000209		2159	4204	6363	SO:0001819	synonymous_variant	9721							g.chr10:47000209C>T	BC011672	CCDS73101.1	10q11.22	2006-08-24	2006-08-24	2006-08-24	ENSG00000204175	ENSG00000204175			23730	protein-coding gene	gene with protein product		611240	"KIAA0514"	KIAA0514		9628581	Standard	NM_014696		Approved	MGC15171	uc001jec.3	O60269	OTTHUMG00000018107	ENST00000374317.1:c.1329C>T	10.37:g.47000209C>T						GPRIN2_ENST00000374317.1_Silent_p.S443S	p.S443S			O60269	GRIN2_HUMAN			1	2284	+			443					Q5SVF0	Silent	SNP	ENST00000374317.1	37	c.1329C>T	CCDS31192.1																																																																																				0.706	GPRIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047836.1	NM_014696		3	20	0	0	0	1	0	3	20					T	47000209	C	T	47000209	2	4	124	1	0	0	0	0	0	0	0	1	6730	610	22	3		3	GPRIN2	10	47000209	Silent	SNP	C	TCGA-EJ-A65M-01A-11D-A29Q-08	8593760	47000209	88534538	29	6535											
JMJD1C	221037	broad.mit.edu	37	chr10	64968222	64968222	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgatactgagcgttctacAtccatatcttgtttgatgat	9	17	7	8	1	3	4	0	4	3	0	4	4	4	4	1	0	3	2	1	0	3	6			TCGA-EJ-A65M-01A-11D-A29Q-08	TCGA-EJ-A65M-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cea7ce0-744e-4962-ac48-f1944c48e13f	600ca654-1eb6-4434-bba1-210e230b973a	g.chr10:64968222A>G	ENST00000399262.2	-	10	3425	c.3207T>C	c.(3205-3207)gaT>gaC	p.D1069D	JMJD1C_ENST00000542921.1_Silent_p.D887D|JMJD1C_ENST00000399251.1_Silent_p.D850D|JMJD1C_ENST00000402544.1_Silent_p.D850D	NM_032776.1	NP_116165.1	Q15652	JHD2C_HUMAN	jumonji domain containing 1C	1069					blood coagulation (GO:0007596)|chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	intracellular (GO:0005622)|nucleoplasm (GO:0005654)	dioxygenase activity (GO:0051213)|metal ion binding (GO:0046872)|thyroid hormone receptor binding (GO:0046966)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	77	Prostate(12;0.0119)|all_hematologic(501;0.191)					AGCGTTCTACATCCATATCTT	0.388																																						ENST00000399262.2																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	77						c.(3205-3207)gaT>gaC		jumonji domain containing 1C							214	201	205					10																	64968222		1885	4122	6007	SO:0001819	synonymous_variant	221037				blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding	g.chr10:64968222A>G	L40411	CCDS41532.1, CCDS60538.1	10q22.1	2011-05-25	2004-03-31	2004-04-01	ENSG00000171988	ENSG00000171988			12313	protein-coding gene	gene with protein product		604503	"thyroid hormone receptor interactor 8"	TRIP8		7776974	Standard	XM_005269624		Approved	DKFZp761F0118, KIAA1380, FLJ14374	uc001jmn.3	Q15652	OTTHUMG00000018311	ENST00000399262.2:c.3207T>C	10.37:g.64968222A>G						JMJD1C_ENST00000399251.1_Silent_p.D850D|JMJD1C_ENST00000402544.1_Silent_p.D850D|JMJD1C_ENST00000542921.1_Silent_p.D887D	p.D1069D	NM_032776.1	NP_116165.1	Q15652	JHD2C_HUMAN			10	3425	-	Prostate(12;0.0119)|all_hematologic(501;0.191)		1069					A0T124|Q5SQZ8|Q5SQZ9|Q5SR00|Q7Z3E7|Q8N3U0|Q96KB9|Q9P2G7	Silent	SNP	ENST00000399262.2	37	c.3207T>C	CCDS41532.1																																																																																				0.388	JMJD1C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048249.2	NM_004241		70	167	0	0	0	1	0	70	167					G	64968222	A	G	64968222	2	3	124	1	0	0	0	0	0	0	0	1	7950	214	8	4		4	JMJD1C	10	64968222	Silent	SNP	A	TCGA-EJ-A65M-01A-11D-A29Q-08	17968013	64968222	70566525	30	6536											
OR52E8	390079	broad.mit.edu	37	chr11	5878305	5878305	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacatccagtaacaagagagAtatgttgccaaggccaaacc	17	6	8	10	0	0	2	0	0	0	2	1	3	1	2	4	1	4	2	4	1	6	3			TCGA-EJ-A65M-01A-11D-A29Q-08	TCGA-EJ-A65M-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cea7ce0-744e-4962-ac48-f1944c48e13f	600ca654-1eb6-4434-bba1-210e230b973a	g.chr11:5878305A>G	ENST00000537935.1	-	1	659	c.628T>C	c.(628-630)Tct>Cct	p.S210P	TRIM5_ENST00000380027.1_Intron	NM_001005168.1	NP_001005168.1	Q6IFG1	O52E8_HUMAN	olfactory receptor, family 52, subfamily E, member 8	210						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	20		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.114)		Epithelial(150;2.37e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AACAAGAGAGATATGTTGCCA	0.478																																						ENST00000537935.1																			0				endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	20						c.(628-630)Tct>Cct		olfactory receptor, family 52, subfamily E, member 8							82	90	87					11																	5878305		2146	4296	6442	SO:0001583	missense	390079				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5878305A>G	BK004301	CCDS31400.1	11p15.4	2012-08-09	2003-12-15		ENSG00000183269	ENSG00000183269		"GPCR / Class A : Olfactory receptors"	15217	protein-coding gene	gene with protein product			"olfactory receptor, family 52, subfamily E, member 8 pseudogene"				Standard	NM_001005168		Approved		uc010qzr.2	Q6IFG1	OTTHUMG00000168803	ENST00000537935.1:c.628T>C	11.37:g.5878305A>G	ENSP00000444054:p.Ser210Pro					TRIM5_ENST00000380027.1_Intron	p.S210P	NM_001005168.1	NP_001005168.1	Q6IFG1	O52E8_HUMAN		Epithelial(150;2.37e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	659	-		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.114)	210					B9EH38	Missense_Mutation	SNP	ENST00000537935.1	37	c.628T>C	CCDS31400.1	.	.	.	.	.	.	.	.	.	.	A	13.56	2.273519	0.40194	.	.	ENSG00000183269	ENST00000537935	T	0.00179	8.61	4.53	0.365	0.16131	GPCR, rhodopsin-like superfamily (1);	0.385414	0.22296	N	0.061938	T	0.00210	0.0006	M	0.72479	2.2	0.09310	N	1	B	0.18863	0.031	B	0.23852	0.049	T	0.37126	-0.9719	10	0.48119	T	0.1	.	7.4283	0.27113	0.4595:0.415:0.0:0.1255	.	210	Q6IFG1	O52E8_HUMAN	P	210	ENSP00000444054:S210P	ENSP00000444054:S210P	S	-	1	0	OR52E8	5834881	0.000000	0.05858	0.002000	0.10522	0.693000	0.40251	-2.365000	0.01079	-0.041000	0.13558	0.448000	0.29417	TCT		0.478	OR52E8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401145.1	NM_001005168		5	106	0	0	0	1	0	5	106					G	5878305	A	G	5878305	3	3	124	1	0	0	0	0	1	0	0	0	11118	333	12	4	327	4	OR52E8	11	5878305	Missense_Mutation	SNP	A	TCGA-EJ-A65M-01A-11D-A29Q-08		5878305	129128211	31	6537											
CNGA4	1262	broad.mit.edu	37	chr11	6261374	6261374	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgcacctggagtttcttctTggacctggcttccctgatgc	4	14	10	13	1	2	1	0	1	2	0	4	3	3	3	3	3	1	3	3	3	0	4			TCGA-EJ-A65M-01A-11D-A29Q-08	TCGA-EJ-A65M-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cea7ce0-744e-4962-ac48-f1944c48e13f	600ca654-1eb6-4434-bba1-210e230b973a	g.chr11:6261374T>G	ENST00000379936.2	+	4	465	c.350T>G	c.(349-351)tTg>tGg	p.L117W	CNGA4_ENST00000533426.1_Intron	NM_001037329.3	NP_001032406.1	Q8IV77	CNGA4_HUMAN	cyclic nucleotide gated channel alpha 4	117					phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|sensory perception of smell (GO:0007608)	integral component of plasma membrane (GO:0005887)	cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|intracellular cAMP activated cation channel activity (GO:0005222)|intracellular cGMP activated cation channel activity (GO:0005223)|voltage-gated potassium channel activity (GO:0005249)			endometrium(2)|kidney(1)|large_intestine(9)|lung(24)|prostate(3)|skin(1)	40		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;2.04e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGTTTCTTCTTGGACCTGGCT	0.632																																						ENST00000379936.2																			0				endometrium(2)|kidney(1)|large_intestine(9)|lung(24)|prostate(3)|skin(1)	40						c.(349-351)tTg>tGg		cyclic nucleotide gated channel alpha 4							138	132	134					11																	6261374		2201	4296	6497	SO:0001583	missense	1262				response to stimulus|sensory perception of smell		cAMP binding	g.chr11:6261374T>G	AK122736	CCDS31408.1	11p15.4	2011-07-05		2002-01-18		ENSG00000132259		"Voltage-gated ion channels / Cyclic nucleotide-regulated channels"	2152	protein-coding gene	gene with protein product		609472	"cyclic nucleotide gated channel beta 2"	CNCA2, CNGB2		11764791, 16382102	Standard	NM_001037329		Approved	OCNC2, OCNCb, CNG5	uc001mco.3	Q8IV77		ENST00000379936.2:c.350T>G	11.37:g.6261374T>G	ENSP00000369268:p.Leu117Trp					CNGA4_ENST00000533426.1_Intron	p.L117W	NM_001037329.3	NP_001032406.1	Q8IV77	CNGA4_HUMAN		Epithelial(150;2.04e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)	4	465	+		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)	117						Missense_Mutation	SNP	ENST00000379936.2	37	c.350T>G	CCDS31408.1	.	.	.	.	.	.	.	.	.	.	T	12.14	1.848118	0.32699	.	.	ENSG00000132259	ENST00000379936	D	0.99089	-5.41	5.15	2.65	0.31530	Ion transport (1);	0.335390	0.34178	N	0.004185	D	0.97377	0.9142	M	0.66297	2.02	0.26858	N	0.968027	B;B	0.30068	0.267;0.193	B;B	0.33339	0.118;0.162	D	0.94788	0.7959	10	0.49607	T	0.09	.	6.2218	0.20685	0.0:0.0915:0.3063:0.6022	.	117;77	Q8IV77;Q8IV77-2	CNGA4_HUMAN;.	W	117	ENSP00000369268:L117W	ENSP00000369268:L117W	L	+	2	0	CNGA4	6217950	0.416000	0.25424	0.672000	0.29872	0.827000	0.46813	0.679000	0.25291	0.903000	0.36546	0.533000	0.62120	TTG		0.632	CNGA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383765.2	NM_001037329		97	238	0	0	0	1	0	97	238					G	6261374	T	G	6261374	3	3	124	1	0	0	0	0	1	0	0	0	3599	1821	63	5	364	5	CNGA4	11	6261374	Missense_Mutation	SNP	T	TCGA-EJ-A65M-01A-11D-A29Q-08	383069	6261374	128745142	32	6538											
DSCAML1	57453	broad.mit.edu	37	chr11	117307910	117307910	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	actgttgcaagccctcatgcGcagctcgtaccacgtggcct	7	9	10	15	3	1	0	1	0	0	0	2	0	1	0	3	1	5	5	3	1	2	2			TCGA-EJ-A65M-01A-11D-A29Q-08	TCGA-EJ-A65M-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cea7ce0-744e-4962-ac48-f1944c48e13f	600ca654-1eb6-4434-bba1-210e230b973a	g.chr11:117307910G>A	ENST00000321322.6	-	26	4829	c.4828C>T	c.(4828-4830)Cgc>Tgc	p.R1610C	DSCAML1_ENST00000527706.1_Missense_Mutation_p.R1340C	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	1550					axonogenesis (GO:0007409)|brain development (GO:0007420)|cell fate determination (GO:0001709)|central nervous system development (GO:0007417)|dendrite self-avoidance (GO:0070593)|dorsal/ventral pattern formation (GO:0009953)|embryonic skeletal system morphogenesis (GO:0048704)|homophilic cell adhesion (GO:0007156)|negative regulation of cell adhesion (GO:0007162)	cell surface (GO:0009986)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		GCCCTCATGCGCAGCTCGTAC	0.647																																						ENST00000321322.6																			0				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110						c.(4828-4830)Cgc>Tgc		Down syndrome cell adhesion molecule like 1							102	95	97					11																	117307910		2201	4296	6497	SO:0001583	missense	57453				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity	g.chr11:117307910G>A		CCDS8384.1	11q22.2-q22.3	2013-02-11			ENSG00000177103	ENSG00000177103		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	14656	protein-coding gene	gene with protein product		611782				11453658	Standard	NM_020693		Approved	KIAA1132	uc001prh.1	Q8TD84	OTTHUMG00000167071	ENST00000321322.6:c.4828C>T	11.37:g.117307910G>A	ENSP00000315465:p.Arg1610Cys					DSCAML1_ENST00000527706.1_Missense_Mutation_p.R1340C	p.R1610C	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)	26	4829	-	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)	1550					Q76MU9|Q8IZY3|Q8IZY4|Q8WXU7|Q9ULT7	Missense_Mutation	SNP	ENST00000321322.6	37	c.4828C>T	CCDS8384.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.123915	0.77436	.	.	ENSG00000177103	ENST00000527706;ENST00000321322;ENST00000446508	T;T	0.59364	0.27;0.27	4.1	4.1	0.47936	Fibronectin, type III (3);Immunoglobulin-like fold (1);	.	.	.	.	T	0.61048	0.2316	L	0.50333	1.59	0.52501	D	0.999957	D	0.65815	0.995	P	0.52343	0.696	T	0.65631	-0.6121	9	0.87932	D	0	.	12.0703	0.53611	0.0:0.0:0.8281:0.1719	.	1550	Q8TD84	DSCL1_HUMAN	C	1340;1610;1317	ENSP00000434335:R1340C;ENSP00000315465:R1610C	ENSP00000315465:R1610C	R	-	1	0	DSCAML1	116813120	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.639000	0.67868	2.286000	0.76751	0.655000	0.94253	CGC		0.647	DSCAML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392907.2	NM_020693		4	198	0	0	0	1	0	4	198					A	117307910	G	A	117307910	3	1	124	1	0	0	0	0	1	0	0	0	4769	1087	38	1	1545	1	DSCAML1	11	117307910	Missense_Mutation	SNP	G	TCGA-EJ-A65M-01A-11D-A29Q-08	111046536	117307910	17698606	33	6539											
ANKS1B	56899	broad.mit.edu	37	chr12	100166698	100166698	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cattcccccccgccttacttActacactctggcttccattt	6	14	3	18	1	1	0	0	0	1	0	3	0	3	0	5	1	3	1	5	1	3	6			TCGA-EJ-A65M-01A-11D-A29Q-08	TCGA-EJ-A65M-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cea7ce0-744e-4962-ac48-f1944c48e13f	600ca654-1eb6-4434-bba1-210e230b973a	g.chr12:100166698A>G	ENST00000547776.2	-	8	1128		c.e8+1		ANKS1B_ENST00000547010.1_Intron|ANKS1B_ENST00000329257.7_Splice_Site	NM_152788.4	NP_690001.3	Q7Z6G8	ANS1B_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1B							cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)	ephrin receptor binding (GO:0046875)			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(15)|lung(38)|pancreas(1)|prostate(2)|skin(1)	70		all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209)		OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06)		CGCCTTACTTACTACACTCTG	0.433																																						ENST00000547776.2																			0				NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(15)|lung(38)|pancreas(1)|prostate(2)|skin(1)	70						c.e8+1		ankyrin repeat and sterile alpha motif domain containing 1B							113	114	114					12																	100166698		1935	4136	6071	SO:0001630	splice_region_variant	56899					Cajal body|cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane		g.chr12:100166698A>G	AF145204	CCDS55864.1, CCDS55865.1, CCDS55866.1, CCDS55867.1, CCDS55868.1, CCDS55869.1, CCDS55870.1, CCDS55871.1, CCDS55872.1	12q23.1	2013-01-10						"Sterile alpha motif (SAM) domain containing", "Ankyrin repeat domain containing"	24600	protein-coding gene	gene with protein product		607815				10490826, 12415113	Standard	NM_020140		Approved	EB-1, AIDA-1, cajalin-2, ANKS2	uc001tge.2	Q7Z6G8		ENST00000547776.2:c.1128+1T>C	12.37:g.100166698A>G						ANKS1B_ENST00000329257.7_Splice_Site|ANKS1B_ENST00000547010.1_Intron		NM_152788.4	NP_690001.3	Q7Z6G8	ANS1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06)	8	1128	-		all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209)						A5PKY5|A7E259|A8K153|A8MSN4|B4DFP6|B4DH98|F8VPM3|F8VZR9|F8WC27|Q5XLJ0|Q6IVB5|Q6NUS4|Q7Z6G6|Q7Z6G7|Q8TAP3|Q9NRX7|Q9Y5K9	Splice_Site	SNP	ENST00000547776.2	37		CCDS55872.1	.	.	.	.	.	.	.	.	.	.	A	20.4	3.985764	0.74589	.	.	ENSG00000185046	ENST00000547776;ENST00000329257;ENST00000549866	.	.	.	5.47	5.47	0.80525	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.4423	0.67325	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ANKS1B	98690829	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	3.990000	0.56965	2.219000	0.72066	0.533000	0.62120	.		0.433	ANKS1B-003	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000408421.3	NM_020140	Intron	7	47	0	0	0	1	0	7	47					G	100166698	A	G	100166698	5	3	124	1	0	0	0	0	0	0	1	0	689	405	14	4	2980	4	ANKS1B	12	100166698	Splice_Site	SNP	A	TCGA-EJ-A65M-01A-11D-A29Q-08		100166698	33685197	34	6540											
ACSM5	54988	broad.mit.edu	37	chr16	20442593	20442593	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggagaagaggggaatgttGccgtccgtatcagacccact	10	8	13	10	2	1	3	1	0	0	3	2	5	2	4	3	3	1	2	3	3	3	2			TCGA-EJ-A65M-01A-11D-A29Q-08	TCGA-EJ-A65M-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cea7ce0-744e-4962-ac48-f1944c48e13f	600ca654-1eb6-4434-bba1-210e230b973a	g.chr16:20442593G>A	ENST00000331849.4	+	10	1405	c.1258G>A	c.(1258-1260)Gcc>Acc	p.A420T		NM_017888.2	NP_060358.2	Q6NUN0	ACSM5_HUMAN	acyl-CoA synthetase medium-chain family member 5	420					fatty acid metabolic process (GO:0006631)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|GTP binding (GO:0005525)|metal ion binding (GO:0046872)			breast(1)|endometrium(6)|kidney(2)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1)	51						GGGGAATGTTGCCGTCCGTAT	0.512																																						ENST00000331849.4																			0				breast(1)|endometrium(6)|kidney(2)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1)	51						c.(1258-1260)Gcc>Acc		acyl-CoA synthetase medium-chain family member 5							191	158	169					16																	20442593		2203	4300	6503	SO:0001583	missense	54988				fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding	g.chr16:20442593G>A		CCDS10585.1	16p12.3	2007-10-17			ENSG00000183549	ENSG00000183549		"Acyl-CoA synthetase family"	26060	protein-coding gene	gene with protein product		614361				17762044	Standard	NM_017888		Approved	FLJ20581	uc002dhe.3	Q6NUN0	OTTHUMG00000131551	ENST00000331849.4:c.1258G>A	16.37:g.20442593G>A	ENSP00000327916:p.Ala420Thr						p.A420T	NM_017888.2	NP_060358.2	Q6NUN0	ACSM5_HUMAN			10	1405	+			420					Q96AV1|Q96CX8|Q9NWV3	Missense_Mutation	SNP	ENST00000331849.4	37	c.1258G>A	CCDS10585.1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.464402	0.84425	.	.	ENSG00000183549	ENST00000331849	T	0.41400	1.0	4.37	4.37	0.52481	AMP-dependent synthetase/ligase (1);	0.254426	0.27275	N	0.020113	T	0.62539	0.2436	M	0.88640	2.97	0.40144	D	0.976869	P	0.46512	0.879	P	0.51550	0.673	T	0.74109	-0.3771	10	0.87932	D	0	-6.9187	16.0686	0.80907	0.0:0.0:1.0:0.0	.	420	Q6NUN0	ACSM5_HUMAN	T	420	ENSP00000327916:A420T	ENSP00000327916:A420T	A	+	1	0	ACSM5	20350094	1.000000	0.71417	0.083000	0.20561	0.774000	0.43823	7.352000	0.79404	2.119000	0.64992	0.650000	0.86243	GCC		0.512	ACSM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254413.1	NM_017888		9	162	0	0	0	1	0	9	162					A	20442593	G	A	20442593	3	1	124	1	0	0	0	0	1	0	0	0	187	1319	46	3	1292	3	ACSM5	16	20442593	Missense_Mutation	SNP	G	TCGA-EJ-A65M-01A-11D-A29Q-08		20442593	69912160	35	6541											
MAZ	4150	broad.mit.edu	37	chr16	29820948	29820948	+	Intron	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaccgcatcctgtgcaagcTgtgcagcgtgcactgcaaga	9	8	12	12	2	0	2	0	1	0	1	1	2	1	2	2	0	6	6	2	0	2	0			TCGA-EJ-A65M-01A-11D-A29Q-08	TCGA-EJ-A65M-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cea7ce0-744e-4962-ac48-f1944c48e13f	600ca654-1eb6-4434-bba1-210e230b973a	g.chr16:29820948T>A	ENST00000322945.6	+	5	1444				MAZ_ENST00000568544.1_Intron|AC009133.14_ENST00000569981.1_RNA|MAZ_ENST00000566906.2_Intron|MAZ_ENST00000563402.1_Intron|MAZ_ENST00000219782.6_Missense_Mutation_p.L456Q|PRRT2_ENST00000567659.1_5'Flank|AC009133.15_ENST00000566537.1_RNA|AC009133.14_ENST00000563806.1_RNA|MAZ_ENST00000568282.1_Missense_Mutation_p.L57Q|PRRT2_ENST00000300797.6_5'Flank|MAZ_ENST00000545521.1_Intron|PRRT2_ENST00000358758.7_5'Flank|AC009133.20_ENST00000569039.1_RNA|MAZ_ENST00000562337.1_Intron	NM_002383.2	NP_002374.2	P56270	MAZ_HUMAN	MYC-associated zinc finger protein (purine-binding transcription factor)						positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|termination of RNA polymerase II transcription (GO:0006369)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			endometrium(3)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	10						CTGTGCAAGCTGTGCAGCGTG	0.711																																					Colon(72;875 1167 15364 30899 37091)	ENST00000219782.6																			0				endometrium(3)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	10						c.(1366-1368)cTg>cAg		MYC-associated zinc finger protein (purine-binding transcription factor)							16	17	17					16																	29820948		2005	4156	6161	SO:0001627	intron_variant	4150				regulation of transcription, DNA-dependent|termination of RNA polymerase II transcription|transcription initiation from RNA polymerase II promoter	nucleus	DNA binding|protein binding|RNA binding|zinc ion binding	g.chr16:29820948T>A	M93339	CCDS42143.1, CCDS42144.1, CCDS61902.1, CCDS61903.1	16p11.2	2013-01-08			ENSG00000103495	ENSG00000103495		"Zinc fingers, C2H2-type"	6914	protein-coding gene	gene with protein product		600999				1567856, 1502157	Standard	NM_001276275		Approved	ZF87, Pur-1, Zif87, ZNF801	uc002dtx.4	P56270	OTTHUMG00000132119	ENST00000322945.6:c.1280-450T>A	16.37:g.29820948T>A						MAZ_ENST00000568544.1_Intron|MAZ_ENST00000545521.1_Intron|AC009133.14_ENST00000563806.1_RNA|MAZ_ENST00000563402.1_Intron|MAZ_ENST00000562337.1_Intron|MAZ_ENST00000568282.1_Missense_Mutation_p.L57Q|AC009133.14_ENST00000569981.1_RNA|MAZ_ENST00000322945.6_Intron|AC009133.20_ENST00000569039.1_RNA|MAZ_ENST00000566906.2_Intron	p.L456Q	NM_001042539.1	NP_001036004.1	P56270	MAZ_HUMAN			5	1473	+			194					A8QJL9|C6G496|G5E927|H3BQD6|Q15703|Q8NFN7|Q99443	Missense_Mutation	SNP	ENST00000322945.6	37	c.1367T>A	CCDS42143.1	.	.	.	.	.	.	.	.	.	.	T	22.2	4.252380	0.80135	.	.	ENSG00000103495	ENST00000219782	T	0.10668	2.85	4.64	4.64	0.57946	.	2.450850	0.04033	U	0.301838	T	0.20373	0.0490	N	0.16903	0.455	0.39596	D	0.969664	D	0.89917	1.0	D	0.91635	0.999	T	0.16070	-1.0415	10	0.15066	T	0.55	.	12.3194	0.54977	0.0:0.0:0.0:1.0	.	456	G5E927	.	Q	456	ENSP00000219782:L456Q	ENSP00000219782:L456Q	L	+	2	0	MAZ	29728449	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.346000	0.52190	1.874000	0.54306	0.459000	0.35465	CTG		0.711	MAZ-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000435536.1	NM_002383		13	35	0	0	0	1	0	13	35					A	29820948	T	A	29820948	1	1	124	0	1	0	0	0	0	0	0	0	9340	1580	55	5		5	MAZ	16	29820948	Intron	SNP	T	TCGA-EJ-A65M-01A-11D-A29Q-08	9378355	29820948	60533805	36	6542											
MYO15A	51168	broad.mit.edu	37	chr17	18023064	18023064	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cgattacgaacccccatatgCgcccccgtcggggtactcgt	7	8	10	16	6	0	0	0	0	0	0	2	2	0	0	4	2	4	1	4	2	4	3	rs372516960	byFrequency	TCGA-EJ-A65M-01A-11D-A29Q-08	TCGA-EJ-A65M-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cea7ce0-744e-4962-ac48-f1944c48e13f	600ca654-1eb6-4434-bba1-210e230b973a	g.chr17:18023064C>T	ENST00000205890.5	+	2	1288	c.950C>T	c.(949-951)gCg>gTg	p.A317V		NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	317					inner ear morphogenesis (GO:0042472)|locomotory behavior (GO:0007626)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|stereocilium (GO:0032420)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					CCCCCATATGCGCCCCCGTCG	0.602													C|||	5	0.000998403	0.0038	0	5008	,	,		16061	0		0	False		,,,				2504	0					ENST00000205890.5																			0				breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99						c.(949-951)gCg>gTg		myosin XVA		C	VAL/ALA	3,3829		0,3,1913	49	55	53		950	5.8	1	17		53	0,8222		0,0,4111	no	missense	MYO15A	NM_016239.3	64	0,3,6024	TT,TC,CC		0.0,0.0783,0.0249	probably-damaging	317/3531	18023064	3,12051	1916	4111	6027	SO:0001583	missense	51168				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity	g.chr17:18023064C>T	AF144094	CCDS42271.1	17p11.2	2011-09-27			ENSG00000091536	ENSG00000091536		"Myosins / Myosin superfamily : Class XV"	7594	protein-coding gene	gene with protein product		602666		DFNB3, MYO15		9603736	Standard	NM_016239		Approved		uc021trl.1	Q9UKN7	OTTHUMG00000059390	ENST00000205890.5:c.950C>T	17.37:g.18023064C>T	ENSP00000205890:p.Ala317Val						p.A317V	NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN			2	1288	+	all_neural(463;0.228)		317			Myosin head-like.		B4DFC7	Missense_Mutation	SNP	ENST00000205890.5	37	c.950C>T	CCDS42271.1	.	.	.	.	.	.	.	.	.	.	C	15.65	2.896449	0.52121	7.83E-4	0.0	ENSG00000091536	ENST00000205890	D	0.91521	-2.86	5.82	5.82	0.92795	.	.	.	.	.	D	0.90913	0.7144	L	0.29908	0.895	0.80722	D	1	D	0.76494	0.999	P	0.60415	0.874	D	0.91124	0.4932	9	0.56958	D	0.05	.	14.3736	0.66857	0.1486:0.8514:0.0:0.0	.	317	Q9UKN7	MYO15_HUMAN	V	317	ENSP00000205890:A317V	ENSP00000205890:A317V	A	+	2	0	MYO15A	17963789	0.933000	0.31639	0.966000	0.40874	0.115000	0.19883	2.315000	0.43752	2.756000	0.94617	0.561000	0.74099	GCG		0.602	MYO15A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132048.1	NM_016239		4	138	0	0	0	1	0	4	138					T	18023064	C	T	18023064	3	4	124	1	0	0	0	0	1	0	0	0	10063	768	27	1	952	1	MYO15A	17	18023064	Missense_Mutation	SNP	C	TCGA-EJ-A65M-01A-11D-A29Q-08		18023064	63172146	37	6543											
CNTNAP1	8506	broad.mit.edu	37	chr17	40843951	40843951	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctcgggggtcttcctagaGaatatggggggcccttactg	6	10	14	11	1	1	1	0	0	1	1	3	2	2	1	3	5	1	0	3	5	4	4			TCGA-EJ-A65M-01A-11D-A29Q-08	TCGA-EJ-A65M-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cea7ce0-744e-4962-ac48-f1944c48e13f	600ca654-1eb6-4434-bba1-210e230b973a	g.chr17:40843951G>T	ENST00000264638.4	+	16	2689	c.2472G>T	c.(2470-2472)gaG>gaT	p.E824D	CTD-3193K9.3_ENST00000592440.1_RNA	NM_003632.2	NP_003623.1	P78357	CNTP1_HUMAN	contactin associated protein 1	824	Laminin G-like 3. {ECO:0000255|PROSITE- ProRule:PRU00122}.				axon cargo transport (GO:0008088)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cytoskeleton organization (GO:0007010)|neuromuscular process controlling balance (GO:0050885)|neuromuscular process controlling posture (GO:0050884)|neuron projection morphogenesis (GO:0048812)|neuronal action potential propagation (GO:0019227)|paranodal junction assembly (GO:0030913)|positive regulation of signal transduction (GO:0009967)|protein localization to paranode region of axon (GO:0002175)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|paranode region of axon (GO:0033270)|voltage-gated potassium channel complex (GO:0008076)	receptor activity (GO:0004872)|SH3 domain binding (GO:0017124)|SH3/SH2 adaptor activity (GO:0005070)			NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|lung(15)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.143)		TCTTCCTAGAGAATATGGGGG	0.607																																						ENST00000264638.4																			0				NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|lung(15)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						c.(2470-2472)gaG>gaT		contactin associated protein 1							107	118	114					17																	40843951		2203	4300	6503	SO:0001583	missense	8506				axon guidance|cell adhesion	paranode region of axon	receptor activity|receptor binding|SH3 domain binding|SH3/SH2 adaptor activity	g.chr17:40843951G>T	U87223	CCDS11436.1	17q21	2008-07-18				ENSG00000108797			8011	protein-coding gene	gene with protein product	"neurexin 4"	602346		NRXN4		9118959	Standard	NM_003632		Approved	p190, Caspr, CNTNAP	uc002iay.3	P78357		ENST00000264638.4:c.2472G>T	17.37:g.40843951G>T	ENSP00000264638:p.Glu824Asp					CTD-3193K9.3_ENST00000592440.1_RNA	p.E824D	NM_003632.2	NP_003623.1	P78357	CNTP1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.143)	16	2689	+		Breast(137;0.000143)	824			Laminin G-like 3.			Missense_Mutation	SNP	ENST00000264638.4	37	c.2472G>T	CCDS11436.1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.320517	0.81469	.	.	ENSG00000108797	ENST00000264638	T	0.77877	-1.13	5.5	5.5	0.81552	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.000000	0.64402	D	0.000001	T	0.79644	0.4481	M	0.81112	2.525	0.42626	D	0.993366	B	0.29766	0.256	B	0.38880	0.284	T	0.77194	-0.2677	10	0.37606	T	0.19	.	8.8348	0.35107	0.1611:0.0:0.8389:0.0	.	824	P78357	CNTP1_HUMAN	D	824	ENSP00000264638:E824D	ENSP00000264638:E824D	E	+	3	2	CNTNAP1	38097477	1.000000	0.71417	1.000000	0.80357	0.922000	0.55478	3.301000	0.51842	2.755000	0.94549	0.655000	0.94253	GAG		0.607	CNTNAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452342.1	NM_003632		6	370	1	0	8.12818e-05	1	8.6362e-05	6	370					T	40843951	G	T	40843951	3	4	124	1	0	0	0	0	1	0	0	0	3646	933	33	5	2534	5	CNTNAP1	17	40843951	Missense_Mutation	SNP	G	TCGA-EJ-A65M-01A-11D-A29Q-08	22820887	40843951	40351259	38	6544											
SPOP	8405	broad.mit.edu	37	chr17	47696688	47696688	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gacagctgaccagtaacaggTaaagtgacaggtaatctttg	14	9	11	7	0	1	2	0	2	1	0	1	3	1	2	1	2	2	4	1	2	4	4			TCGA-EJ-A65M-01A-11D-A29Q-08	TCGA-EJ-A65M-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cea7ce0-744e-4962-ac48-f1944c48e13f	600ca654-1eb6-4434-bba1-210e230b973a	g.chr17:47696688T>C	ENST00000393328.2	-	5	625	c.260A>G	c.(259-261)tAc>tGc	p.Y87C	SPOP_ENST00000513080.1_5'UTR|SPOP_ENST00000503676.1_Missense_Mutation_p.Y87C|SPOP_ENST00000393331.3_Missense_Mutation_p.Y87C|SPOP_ENST00000347630.2_Missense_Mutation_p.Y87C|SPOP_ENST00000504102.1_Missense_Mutation_p.Y87C	NM_003563.3	NP_003554.1	O43791	SPOP_HUMAN	speckle-type POZ protein	87	MATH. {ECO:0000255|PROSITE- ProRule:PRU00129}.|Required for nuclear localization.				glucose homeostasis (GO:0042593)|positive regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902237)|positive regulation of type B pancreatic cell apoptotic process (GO:2000676)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	Cul3-RING ubiquitin ligase complex (GO:0031463)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	ubiquitin protein ligase binding (GO:0031625)	p.Y87C(2)|p.Y87S(2)		endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						CAGTAACAGGTAAAGTGACAG	0.403										Prostate(2;0.17)																												ENST00000393331.3																			4	Substitution - Missense(4)	p.Y87C(2)|p.Y87S(2)	prostate(4)	endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						c.(259-261)tAc>tGc		speckle-type POZ protein							114	107	109					17																	47696688		2203	4300	6503	SO:0001583	missense	8405				mRNA processing	nucleus	protein binding	g.chr17:47696688T>C	AJ000644	CCDS11551.1	17q21.33	2013-01-09			ENSG00000121067	ENSG00000121067		"BTB/POZ domain containing"	11254	protein-coding gene	gene with protein product		602650				9414087	Standard	NM_001007227		Approved	TEF2, BTBD32	uc002ipg.3	O43791	OTTHUMG00000161496	ENST00000393328.2:c.260A>G	17.37:g.47696688T>C	ENSP00000377001:p.Tyr87Cys	Prostate(2;0.17)				SPOP_ENST00000503676.1_Missense_Mutation_p.Y87C|SPOP_ENST00000513080.1_5'UTR|SPOP_ENST00000393328.2_Missense_Mutation_p.Y87C|SPOP_ENST00000347630.2_Missense_Mutation_p.Y87C|SPOP_ENST00000504102.1_Missense_Mutation_p.Y87C	p.Y87C	NM_001007226.1|NM_001007227.1	NP_001007227.1|NP_001007228.1	O43791	SPOP_HUMAN			6	730	-			87			MATH.|Required for nuclear localization.		B2R6S3|D3DTW7|Q53HJ1	Missense_Mutation	SNP	ENST00000393328.2	37	c.260A>G	CCDS11551.1	.	.	.	.	.	.	.	.	.	.	T	23.0	4.356797	0.82243	.	.	ENSG00000121067	ENST00000393328;ENST00000393331;ENST00000347630;ENST00000504102;ENST00000503676;ENST00000513872;ENST00000509079;ENST00000505581;ENST00000507970;ENST00000514121;ENST00000515508	T;T;T;T;T;T;T;T;T;T	0.69561	-0.41;-0.41;-0.41;-0.41;-0.41;-0.41;-0.41;-0.41;-0.41;-0.41	5.52	5.52	0.82312	TRAF-type (1);TRAF-like (1);MATH (3);	0.000000	0.85682	D	0.000000	T	0.81346	0.4803	M	0.93550	3.43	0.80722	D	1	P	0.43633	0.813	P	0.49226	0.603	D	0.85384	0.1121	10	0.54805	T	0.06	-9.2801	15.4649	0.75390	0.0:0.0:0.0:1.0	.	87	O43791	SPOP_HUMAN	C	87;87;87;87;87;40;87;87;87;87;87	ENSP00000377001:Y87C;ENSP00000377004:Y87C;ENSP00000240327:Y87C;ENSP00000425905:Y87C;ENSP00000420908:Y87C;ENSP00000426986:Y87C;ENSP00000420960:Y87C;ENSP00000426262:Y87C;ENSP00000424119:Y87C;ENSP00000426537:Y87C	ENSP00000240327:Y87C	Y	-	2	0	SPOP	45051687	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.864000	0.87037	2.317000	0.78254	0.460000	0.39030	TAC		0.403	SPOP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365154.2	NM_003563		20	60	0	0	0	1	0	20	60					C	47696688	T	C	47696688	3	2	124	1	0	0	0	0	1	0	0	0	15083	1638	57	4	892	4	SPOP	17	47696688	Missense_Mutation	SNP	T	TCGA-EJ-A65M-01A-11D-A29Q-08	6852737	47696688	33498522	39	6545											
CBX2	84733	broad.mit.edu	37	chr17	77758020	77758020	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agagctccatcgtgcactacAtgaaccggatgacccagagc	12	6	10	13	2	0	4	0	2	0	2	2	5	1	5	3	1	5	2	3	1	2	1			TCGA-EJ-A65M-01A-11D-A29Q-08	TCGA-EJ-A65M-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cea7ce0-744e-4962-ac48-f1944c48e13f	600ca654-1eb6-4434-bba1-210e230b973a	g.chr17:77758020A>G	ENST00000310942.4	+	5	882	c.778A>G	c.(778-780)Atg>Gtg	p.M260V		NM_005189.2	NP_005180.1	Q14781	CBX2_HUMAN	chromobox homolog 2	260					cell differentiation (GO:0030154)|chromatin modification (GO:0016568)|development of primary sexual characteristics (GO:0045137)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	euchromatin (GO:0000791)|heterochromatin (GO:0000792)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|upper_aerodigestive_tract(1)	16			OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			CGTGCACTACATGAACCGGAT	0.657																																						ENST00000310942.4																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|upper_aerodigestive_tract(1)	16						c.(778-780)Atg>Gtg		chromobox homolog 2							31	35	33					17																	77758020		2202	4297	6499	SO:0001583	missense	84733				cell differentiation|chromatin modification|development of primary sexual characteristics|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	PcG protein complex	DNA binding	g.chr17:77758020A>G	BC004252, BG354579	CCDS11764.1, CCDS32757.1	17q25.3	2010-07-06	2010-06-24		ENSG00000173894	ENSG00000173894			1552	protein-coding gene	gene with protein product	"Pc class homolog (Drosophila)"	602770	"chromobox homolog 2 (Drosophila Pc class)", "cell division cycle associated 6"	CDCA6		7782071, 2477932	Standard	NM_005189		Approved	MGC10561	uc002jxc.3	Q14781		ENST00000310942.4:c.778A>G	17.37:g.77758020A>G	ENSP00000308750:p.Met260Val						p.M260V	NM_005189.2	NP_005180.1	Q14781	CBX2_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)		5	882	+			260					Q0VDA5|Q9BTB1	Missense_Mutation	SNP	ENST00000310942.4	37	c.778A>G	CCDS32757.1	.	.	.	.	.	.	.	.	.	.	A	11.89	1.774418	0.31411	.	.	ENSG00000173894	ENST00000310942	.	.	.	5.0	5.0	0.66597	.	0.955008	0.08679	N	0.909727	T	0.41143	0.1146	N	0.19112	0.55	0.80722	D	1	P	0.43788	0.817	B	0.38500	0.275	T	0.20472	-1.0274	9	0.31617	T	0.26	-5.4135	14.8583	0.70359	1.0:0.0:0.0:0.0	.	260	Q14781	CBX2_HUMAN	V	260	.	ENSP00000308750:M260V	M	+	1	0	CBX2	75372615	1.000000	0.71417	1.000000	0.80357	0.674000	0.39518	4.372000	0.59530	2.099000	0.63709	0.533000	0.62120	ATG		0.657	CBX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437040.1	NM_032647		5	108	0	0	0	1	0	5	108					G	77758020	A	G	77758020	3	3	124	1	0	0	0	0	1	0	0	0	2718	217	8	4	1144	4	CBX2	17	77758020	Missense_Mutation	SNP	A	TCGA-EJ-A65M-01A-11D-A29Q-08	30061332	77758020	3437190	40	6546											
VAV1	7409	broad.mit.edu	37	chr19	6772975	6772975	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcttaacaacctgctacccCatgccatcaacctgcgtgag	10	9	7	15	1	1	1	1	1	0	0	1	1	1	1	5	0	8	2	5	0	4	2			TCGA-EJ-A65M-01A-11D-A29Q-08	TCGA-EJ-A65M-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cea7ce0-744e-4962-ac48-f1944c48e13f	600ca654-1eb6-4434-bba1-210e230b973a	g.chr19:6772975C>A	ENST00000602142.1	+	1	239	c.157C>A	c.(157-159)Cat>Aat	p.H53N	VAV1_ENST00000596764.1_Missense_Mutation_p.H53N|VAV1_ENST00000304076.2_Missense_Mutation_p.H53N|VAV1_ENST00000539284.1_De_novo_Start_OutOfFrame	NM_005428.3	NP_005419.2	P15498	VAV_HUMAN	vav 1 guanine nucleotide exchange factor	53	CH. {ECO:0000255|PROSITE- ProRule:PRU00044}.|Leu-rich.				apoptotic signaling pathway (GO:0097190)|blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil chemotaxis (GO:0030593)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|reactive oxygen species metabolic process (GO:0072593)|regulation of Rac GTPase activity (GO:0032314)|regulation of small GTPase mediated signal transduction (GO:0051056)|regulation of transcription, DNA-templated (GO:0006355)|small GTPase mediated signal transduction (GO:0007264)|T cell activation (GO:0042110)|T cell costimulation (GO:0031295)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|sequence-specific DNA binding transcription factor activity (GO:0003700)			biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(16)|lung(18)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	62						CCTGCTACCCCATGCCATCAA	0.657																																						ENST00000539284.1																			0				biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(16)|lung(18)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	62								vav 1 guanine nucleotide exchange factor							155	115	128					19																	6772975		2203	4300	6503	SO:0001583	missense	7409				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|T cell costimulation	cytosol|plasma membrane	metal ion binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr19:6772975C>A		CCDS12174.1, CCDS59341.1, CCDS59342.1	19p13.2	2013-02-14	2007-07-25			ENSG00000141968		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing", "SH2 domain containing"	12657	protein-coding gene	gene with protein product		164875	"vav 1 oncogene"	VAV		9438848	Standard	NM_005428		Approved		uc010xjh.2	P15498		ENST00000602142.1:c.157C>A	19.37:g.6772975C>A	ENSP00000472929:p.His53Asn					VAV1_ENST00000304076.2_Missense_Mutation_p.H53N|VAV1_ENST00000602142.1_Missense_Mutation_p.H53N|VAV1_ENST00000596764.1_Missense_Mutation_p.H53N				P15498	VAV_HUMAN			0	7	+								B4DVK9|M0QXX6|Q15860	Translation_Start_Site	SNP	ENST00000602142.1	37		CCDS12174.1	.	.	.	.	.	.	.	.	.	.	c	5.464	0.270637	0.10349	.	.	ENSG00000141968	ENST00000304076	T	0.58210	0.35	4.18	4.18	0.49190	Calponin homology domain (5);	0.289946	0.27345	U	0.019786	T	0.21550	0.0519	N	0.01464	-0.85	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.11329	0.001;0.006	T	0.11348	-1.0591	10	0.11485	T	0.65	.	9.4482	0.38710	0.2121:0.7879:0.0:0.0	.	53;53	B2R8B5;P15498	.;VAV_HUMAN	N	53	ENSP00000302269:H53N	ENSP00000302269:H53N	H	+	1	0	VAV1	6723975	1.000000	0.71417	0.986000	0.45419	0.936000	0.57629	4.346000	0.59367	1.870000	0.54199	0.306000	0.20318	CAT		0.657	VAV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458475.1			5	161	1	0	8.12818e-05	1	8.6362e-05	5	161					A	6772975	C	A	6772975	3	1	124	1	0	0	0	0	1	0	0	0	17128	594	21	5	159	5	VAV1	19	6772975	Missense_Mutation	SNP	C	TCGA-EJ-A65M-01A-11D-A29Q-08		6772975	52356008	41	6547											
CRTC1	23373	broad.mit.edu	37	chr19	18864349	18864349	+	Frame_Shift_Del	DEL	C	C	-																															aggaatggaagagaccacatCagaggcagacaaaaaccttt																										TCGA-EJ-A65M-01A-11D-A29Q-08	TCGA-EJ-A65M-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cea7ce0-744e-4962-ac48-f1944c48e13f	600ca654-1eb6-4434-bba1-210e230b973a	g.chr19:18864349delC	ENST00000321949.8	+	6	604	c.578delC	c.(577-579)tcafs	p.S193fs	CRTC1_ENST00000601916.1_Frame_Shift_Del_p.S118fs|CRTC1_ENST00000594658.1_Frame_Shift_Del_p.S152fs|CRTC1_ENST00000338797.6_Frame_Shift_Del_p.S209fs	NM_015321.2	NP_056136.2			CREB regulated transcription coactivator 1										CRTC1/MAML2(516)	NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|skin(1)	19						GAGACCACATCAGAGGCAGAC	0.453																																						ENST00000338797.6																		CRTC1/MAML2(516)	0				NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|skin(1)	19						c.(625-627)tafs		CREB regulated transcription coactivator 1							202	212	209					19																	18864349		2203	4300	6503	SO:0001589	frameshift_variant	23373				interspecies interaction between organisms|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	cAMP response element binding protein binding|protein binding	g.chr19:18864349delC	AY040323	CCDS32963.1, CCDS42525.1	19p13	2012-07-31	2005-11-24	2005-11-24					16062	protein-coding gene	gene with protein product	"transducer of regulated cAMP response element-binding protein"	607536	"mucoepidermoid carcinoma translocated 1"	MECT1		12539049, 14536081, 14506290	Standard	NM_015321		Approved	KIAA0616, FLJ14027, TORC1	uc010ebv.3	Q6UUV9		ENST00000321949.8:c.578delC	19.37:g.18864349delC	ENSP00000323332:p.Ser193fs					CRTC1_ENST00000601916.1_Frame_Shift_Del_p.S118fs|CRTC1_ENST00000321949.8_Frame_Shift_Del_p.S193fs|CRTC1_ENST00000594658.1_Frame_Shift_Del_p.S152fs	p.S209fs	NM_001098482.1	NP_001091952.1	Q6UUV9	CRTC1_HUMAN			7	651	+			193						Frame_Shift_Del	DEL	ENST00000321949.8	37	c.626delC	CCDS32963.1																																																																																				0.453	CRTC1-002	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465151.3	NM_025021		102	349						102	349	---	---	---	---	-	18864349	C	-	18864349	7	5	124	1	0	1	0	1	0	0	0	0	3899	838	29	0	652	0	CRTC1	19	18864349	Frame_Shift_Del	DEL	C	TCGA-EJ-A65M-01A-11D-A29Q-08	12091374	18864349	40264634	42	6548											
RYR1	6261	broad.mit.edu	37	chr19	38960079	38960079	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	catttgccatcaacatgcagCgcccagtcaccacctggttc	9	9	7	16	1	2	0	2	0	0	0	3	0	2	0	4	1	4	2	4	1	1	2			TCGA-EJ-A65M-01A-11D-A29Q-08	TCGA-EJ-A65M-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cea7ce0-744e-4962-ac48-f1944c48e13f	600ca654-1eb6-4434-bba1-210e230b973a	g.chr19:38960079C>T	ENST00000359596.3	+	27	3691	c.3691C>T	c.(3691-3693)Cgc>Tgc	p.R1231C	RYR1_ENST00000355481.4_Missense_Mutation_p.R1231C|RYR1_ENST00000360985.3_Missense_Mutation_p.R1231C			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	1231	6 X approximate repeats.				calcium ion transport (GO:0006816)|cellular response to caffeine (GO:0071313)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|ossification involved in bone maturation (GO:0043931)|outflow tract morphogenesis (GO:0003151)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|skeletal muscle fiber development (GO:0048741)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|integral component of plasma membrane (GO:0005887)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|voltage-gated calcium channel activity (GO:0005245)			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	CAACATGCAGCGCCCAGTCAC	0.577																																						ENST00000355481.4																			0				NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285						c.(3691-3693)Cgc>Tgc		ryanodine receptor 1 (skeletal)	Dantrolene(DB01219)						146	135	139					19																	38960079		2203	4300	6503	SO:0001583	missense	6261				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr19:38960079C>T	J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"Ion channels / Ryanodine receptors"	10483	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 137"	180901	"central core disease of muscle"	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.3691C>T	19.37:g.38960079C>T	ENSP00000352608:p.Arg1231Cys					RYR1_ENST00000360985.3_Missense_Mutation_p.R1231C|RYR1_ENST00000359596.3_Missense_Mutation_p.R1231C	p.R1231C	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		27	3822	+	all_cancers(60;7.91e-06)		1231			6 X approximate repeats.		Q16314|Q16368|Q9NPK1|Q9P1U4	Missense_Mutation	SNP	ENST00000359596.3	37	c.3691C>T	CCDS33011.1	.	.	.	.	.	.	.	.	.	.	c	13.99	2.401958	0.42613	.	.	ENSG00000196218	ENST00000359596;ENST00000355481;ENST00000360985	D;D;D	0.97209	-4.29;-4.29;-4.29	3.48	3.48	0.39840	.	0.000000	0.56097	U	0.000025	D	0.97732	0.9256	M	0.69523	2.12	0.58432	D	0.999995	D;D	0.89917	1.0;1.0	D;D	0.91635	0.984;0.999	D	0.97750	1.0214	10	0.87932	D	0	.	10.3225	0.43775	0.1971:0.8029:0.0:0.0	.	1231;1231	P21817-2;P21817	.;RYR1_HUMAN	C	1231	ENSP00000352608:R1231C;ENSP00000347667:R1231C;ENSP00000354254:R1231C	ENSP00000347667:R1231C	R	+	1	0	RYR1	43651919	0.999000	0.42202	0.998000	0.56505	0.944000	0.59088	0.793000	0.26944	1.816000	0.52996	0.434000	0.28630	CGC		0.577	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1			8	216	0	0	0	1	0	8	216					T	38960079	C	T	38960079	3	4	124	1	0	0	0	0	1	0	0	0	13768	768	27	1	3797	1	RYR1	19	38960079	Missense_Mutation	SNP	C	TCGA-EJ-A65M-01A-11D-A29Q-08	20095730	38960079	20168904	43	6549											
MAP3K10	4294	broad.mit.edu	37	chr19	40715127	40715127	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccggctgagggccattcgccGtgagtatctcccaaggccct	6	8	12	15	3	1	2	0	2	1	0	3	2	1	2	5	3	0	2	5	3	2	2			TCGA-EJ-A65M-01A-11D-A29Q-08	TCGA-EJ-A65M-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cea7ce0-744e-4962-ac48-f1944c48e13f	600ca654-1eb6-4434-bba1-210e230b973a	g.chr19:40715127G>A	ENST00000253055.3	+	6	1840		c.e6+1			NM_002446.3	NP_002437.2	Q02779	M3K10_HUMAN	mitogen-activated protein kinase kinase kinase 10						activation of JNKK activity (GO:0007256)|activation of JUN kinase activity (GO:0007257)|apoptotic process (GO:0006915)|JNK cascade (GO:0007254)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of apoptotic process (GO:0043065)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|protein autophosphorylation (GO:0046777)|signal transduction (GO:0007165)|smoothened signaling pathway (GO:0007224)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|bHLH transcription factor binding (GO:0043425)|JUN kinase kinase kinase activity (GO:0004706)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transcription corepressor activity (GO:0003714)			NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	24						GCCATTCGCCGTGAGTATCTC	0.552																																						ENST00000253055.3																			0				NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	24						c.e6+1		mitogen-activated protein kinase kinase kinase 10							42	48	46					19																	40715127		2203	4300	6503	SO:0001630	splice_region_variant	4294				activation of JUN kinase activity|induction of apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of JNK cascade|protein autophosphorylation|smoothened signaling pathway	cytoplasm	ATP binding|bHLH transcription factor binding|JUN kinase kinase kinase activity|protein homodimerization activity|transcription corepressor activity	g.chr19:40715127G>A	X90846	CCDS12549.1	19q13.2	2014-08-12			ENSG00000130758		2.7.11.1	"Mitogen-activated protein kinase cascade / Kinase kinase kinases"	6849	protein-coding gene	gene with protein product	"MKN28 kinase", "mixed lineage kinase 2", "MKN28 derived nonreceptor_type serine/threonine kinase"	600137		MLK2		8536694, 7731697	Standard	NM_002446		Approved	MST, MEKK10	uc002ona.3	Q02779	OTTHUMG00000182591	ENST00000253055.3:c.1552+1G>A	19.37:g.40715127G>A								NM_002446.3	NP_002437.2	Q02779	M3K10_HUMAN			6	1840	+								Q12761|Q14871	Splice_Site	SNP	ENST00000253055.3	37		CCDS12549.1	.	.	.	.	.	.	.	.	.	.	G	26.6	4.754113	0.89843	.	.	ENSG00000130758	ENST00000253055	.	.	.	5.05	5.05	0.67936	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.2537	0.82501	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	MAP3K10	45406967	1.000000	0.71417	0.991000	0.47740	0.930000	0.56654	9.712000	0.98738	2.518000	0.84900	0.555000	0.69702	.		0.552	MAP3K10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462552.1	NM_002446	Intron	4	98	0	0	0	1	0	4	98					A	40715127	G	A	40715127	5	1	124	1	0	0	0	0	0	0	1	0	9244	1159	40	1	1575	1	MAP3K10	19	40715127	Splice_Site	SNP	G	TCGA-EJ-A65M-01A-11D-A29Q-08	1755048	40715127	18413856	44	6550											
SPTBN4	57731	broad.mit.edu	37	chr19	41029534	41029534	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggctcaggaggctgtgacccGgctgctggagaagtaggtcc	7	7	17	10	1	1	2	1	1	0	1	2	4	2	3	2	6	1	5	2	6	2	1			TCGA-EJ-A65M-01A-11D-A29Q-08	TCGA-EJ-A65M-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cea7ce0-744e-4962-ac48-f1944c48e13f	600ca654-1eb6-4434-bba1-210e230b973a	g.chr19:41029534G>A	ENST00000352632.3	+	17	3931	c.3845G>A	c.(3844-3846)cGg>cAg	p.R1282Q	SPTBN4_ENST00000598249.1_Missense_Mutation_p.R1282Q|SPTBN4_ENST00000392025.1_5'Flank|SPTBN4_ENST00000338932.3_Missense_Mutation_p.R1282Q|SPTBN4_ENST00000344104.3_Missense_Mutation_p.R1282Q|SPTBN4_ENST00000595535.1_Missense_Mutation_p.R1282Q			Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4	1282					actin filament capping (GO:0051693)|adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cardiac conduction (GO:0061337)|central nervous system projection neuron axonogenesis (GO:0021952)|clustering of voltage-gated sodium channels (GO:0045162)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization to plasma membrane (GO:0090002)|fertilization (GO:0009566)|negative regulation of heart rate (GO:0010459)|positive regulation of multicellular organism growth (GO:0040018)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of sodium ion transport (GO:0002028)|sensory perception of sound (GO:0007605)|transmission of nerve impulse (GO:0019226)|vesicle-mediated transport (GO:0016192)	adherens junction (GO:0005912)|axon hillock (GO:0043203)|axon initial segment (GO:0043194)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|nuclear matrix (GO:0016363)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|PML body (GO:0016605)|spectrin (GO:0008091)	actin binding (GO:0003779)|ankyrin binding (GO:0030506)|phosphatase binding (GO:0019902)|phospholipid binding (GO:0005543)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			GCTGTGACCCGGCTGCTGGAG	0.657																																						ENST00000352632.3																			0				breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73						c.(3844-3846)cGg>cAg		spectrin, beta, non-erythrocytic 4							43	41	42					19																	41029534		2203	4300	6503	SO:0001583	missense	57731				actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport	cytosol|nuclear matrix|PML body|spectrin	actin binding|ankyrin binding|structural constituent of cytoskeleton	g.chr19:41029534G>A	AF082075	CCDS12559.1, CCDS42569.1	19q13.13	2013-01-10				ENSG00000160460		"Pleckstrin homology (PH) domain containing"	14896	protein-coding gene	gene with protein product		606214				11086001	Standard	NM_020971		Approved	SPTBN3, KIAA1642	uc002onz.3	Q9H254		ENST00000352632.3:c.3845G>A	19.37:g.41029534G>A	ENSP00000263373:p.Arg1282Gln					SPTBN4_ENST00000595535.1_Missense_Mutation_p.R1282Q|SPTBN4_ENST00000598249.1_Missense_Mutation_p.R1282Q|SPTBN4_ENST00000344104.3_Missense_Mutation_p.R1282Q|SPTBN4_ENST00000338932.3_Missense_Mutation_p.R1282Q	p.R1282Q			Q9H254	SPTN4_HUMAN	Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)		17	3931	+			1282					E9PGQ5|Q9H1K7|Q9H1K8|Q9H1K9|Q9H253|Q9H3G8|Q9HCD0	Missense_Mutation	SNP	ENST00000352632.3	37	c.3845G>A	CCDS12559.1	.	.	.	.	.	.	.	.	.	.	g	6.493	0.459136	0.12342	.	.	ENSG00000160460	ENST00000428507;ENST00000352632;ENST00000338932;ENST00000344104	T;T;T	0.33438	1.41;1.41;1.45	4.31	2.06	0.26882	.	0.272710	0.27906	U	0.017367	T	0.08133	0.0203	N	0.01352	-0.895	0.27774	N	0.943374	B;B	0.09022	0.002;0.001	B;B	0.08055	0.0;0.003	T	0.21552	-1.0242	10	0.20046	T	0.44	.	3.5223	0.07747	0.2445:0.2147:0.5408:0.0	.	1282;1282	Q9H254;Q71S06	SPTN4_HUMAN;.	Q	1282	ENSP00000263373:R1282Q;ENSP00000340345:R1282Q;ENSP00000340741:R1282Q	ENSP00000340345:R1282Q	R	+	2	0	SPTBN4	45721374	0.000000	0.05858	0.893000	0.35052	0.163000	0.22366	-0.873000	0.04214	1.043000	0.40175	0.165000	0.16767	CGG		0.657	SPTBN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462559.2			4	80	0	0	0	1	0	4	80					A	41029534	G	A	41029534	3	1	124	1	0	0	0	0	1	0	0	0	15120	1116	39	2	3907	2	SPTBN4	19	41029534	Missense_Mutation	SNP	G	TCGA-EJ-A65M-01A-11D-A29Q-08	314407	41029534	18099449	45	6551											
KCNS1	3787	broad.mit.edu	37	chr20	43727084	43727084	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtgcagcaggctcaggaagAagcccgggtgccggtcgaag	10	4	17	10	3	1	1	1	0	0	1	2	3	1	2	2	4	4	3	2	4	3	0			TCGA-EJ-A65M-01A-11D-A29Q-08	TCGA-EJ-A65M-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cea7ce0-744e-4962-ac48-f1944c48e13f	600ca654-1eb6-4434-bba1-210e230b973a	g.chr20:43727084A>T	ENST00000306117.1	-	4	725	c.329T>A	c.(328-330)tTc>tAc	p.F110Y	KCNS1_ENST00000537075.1_Missense_Mutation_p.F110Y	NM_002251.3	NP_002242.2	Q96KK3	KCNS1_HUMAN	potassium voltage-gated channel, delayed-rectifier, subfamily S, member 1	110					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel regulator activity (GO:0015459)			endometrium(1)|lung(3)|ovary(1)|stomach(1)	6		Myeloproliferative disorder(115;0.0122)				GCTCAGGAAGAAGCCCGGGTG	0.692																																						ENST00000306117.1																			0				endometrium(1)|lung(3)|ovary(1)|stomach(1)	6						c.(328-330)tTc>tAc		potassium voltage-gated channel, delayed-rectifier, subfamily S, member 1							22	24	23					20																	43727084		2188	4281	6469	SO:0001583	missense	3787					voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium channel regulator activity|protein binding	g.chr20:43727084A>T	AF043473	CCDS13342.1	20q12	2011-07-05			ENSG00000124134	ENSG00000124134		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6300	protein-coding gene	gene with protein product		602905				9305895, 16382104	Standard	NM_002251		Approved	Kv9.1	uc002xnc.3	Q96KK3	OTTHUMG00000033079	ENST00000306117.1:c.329T>A	20.37:g.43727084A>T	ENSP00000307694:p.Phe110Tyr					KCNS1_ENST00000537075.1_Missense_Mutation_p.F110Y	p.F110Y	NM_002251.3	NP_002242.2	Q96KK3	KCNS1_HUMAN			4	725	-		Myeloproliferative disorder(115;0.0122)	110					A2RUL9|B7ZM31|O43652|Q6DJU6	Missense_Mutation	SNP	ENST00000306117.1	37	c.329T>A	CCDS13342.1	.	.	.	.	.	.	.	.	.	.	A	28.0	4.881879	0.91740	.	.	ENSG00000124134	ENST00000306117;ENST00000537075	T;T	0.76316	-1.01;-1.01	4.72	4.72	0.59763	BTB/POZ-like (1);BTB/POZ fold (2);Potassium channel, voltage dependent, Kv, tetramerisation (1);	0.056737	0.85682	D	0.000000	T	0.79816	0.4511	N	0.25825	0.765	0.42344	D	0.992348	D	0.64830	0.994	D	0.64410	0.925	T	0.82194	-0.0578	10	0.56958	D	0.05	.	14.2256	0.65858	1.0:0.0:0.0:0.0	.	110	Q96KK3	KCNS1_HUMAN	Y	110	ENSP00000307694:F110Y;ENSP00000445595:F110Y	ENSP00000307694:F110Y	F	-	2	0	KCNS1	43160498	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.028000	0.93712	1.760000	0.52011	0.533000	0.62120	TTC		0.692	KCNS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080507.3	NM_002251		5	13	0	0	0	1	0	5	13					T	43727084	A	T	43727084	3	4	124	1	0	0	0	0	1	0	0	0	8088	246	9	5	1259	5	KCNS1	20	43727084	Missense_Mutation	SNP	A	TCGA-EJ-A65M-01A-11D-A29Q-08		43727084	19298436	46	6552											
PPP1R3D	5509	broad.mit.edu	37	chr20	58514330	58514330	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcccgcgccaccgcgccacCgcctcgtgggtactgcgcca	4	4	13	20	7	0	0	0	0	0	0	1	0	0	0	7	2	2	1	7	2	1	1			TCGA-EJ-A65M-01A-11D-A29Q-08	TCGA-EJ-A65M-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cea7ce0-744e-4962-ac48-f1944c48e13f	600ca654-1eb6-4434-bba1-210e230b973a	g.chr20:58514330C>T	ENST00000370996.3	-	1	1022	c.657G>A	c.(655-657)gcG>gcA	p.A219A	FAM217B_ENST00000358293.3_Intron|FAM217B_ENST00000360816.3_5'Flank	NM_006242.3	NP_006233.1	O95685	PPR3D_HUMAN	protein phosphatase 1, regulatory subunit 3D	219	CBM21. {ECO:0000255|PROSITE- ProRule:PRU00491}.				dephosphorylation (GO:0016311)|glycogen metabolic process (GO:0005977)|regulation of glycogen biosynthetic process (GO:0005979)|regulation of glycogen catabolic process (GO:0005981)	glycogen granule (GO:0042587)|intracellular membrane-bounded organelle (GO:0043231)	protein serine/threonine phosphatase activity (GO:0004722)			endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|urinary_tract(1)	13	all_lung(29;0.00391)		BRCA - Breast invasive adenocarcinoma(7;5.12e-09)			ACCGCGCCACCGCCTCGTGGG	0.687																																						ENST00000370996.3																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|urinary_tract(1)	13						c.(655-657)gcG>gcA		protein phosphatase 1, regulatory subunit 3D							30	30	30					20																	58514330		2199	4296	6495	SO:0001819	synonymous_variant	5509				glycogen metabolic process		protein binding|protein serine/threonine phosphatase activity	g.chr20:58514330C>T	Y18206	CCDS13483.1	20q13.3	2012-04-17	2011-10-04	2001-08-01	ENSG00000132825	ENSG00000132825		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	9294	protein-coding gene	gene with protein product		603326	"protein phosphatase 1, regulatory (inhibitor) subunit 3D"	PPP1R6		9414128, 9275233	Standard	NM_006242		Approved		uc002ybb.3	O95685	OTTHUMG00000032876	ENST00000370996.3:c.657G>A	20.37:g.58514330C>T						FAM217B_ENST00000358293.3_Intron	p.A219A	NM_006242.3	NP_006233.1	O95685	PPR3D_HUMAN	BRCA - Breast invasive adenocarcinoma(7;5.12e-09)		1	1022	-	all_lung(29;0.00391)		219			CBM21.		Q6DK02	Silent	SNP	ENST00000370996.3	37	c.657G>A	CCDS13483.1																																																																																				0.687	PPP1R3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079940.2	NM_006242		11	72	0	0	0	1	0	11	72					T	58514330	C	T	58514330	2	4	124	1	0	0	0	0	0	0	0	1	12374	639	23	2		2	PPP1R3D	20	58514330	Silent	SNP	C	TCGA-EJ-A65M-01A-11D-A29Q-08	14787246	58514330	4511190	47	6553											
LIME1	54923	broad.mit.edu	37	chr20	62370021	62370021	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acccaccacagacccgctggAccccaagggccagggagcga	11	1	12	17	2	0	1	0	0	0	1	0	4	0	3	6	3	1	1	6	3	1	0			TCGA-EJ-A65M-01A-11D-A29Q-08	TCGA-EJ-A65M-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cea7ce0-744e-4962-ac48-f1944c48e13f	600ca654-1eb6-4434-bba1-210e230b973a	g.chr20:62370021A>G	ENST00000309546.3	+	6	743	c.656A>G	c.(655-657)gAc>gGc	p.D219G	SLC2A4RG_ENST00000266077.2_5'Flank|RP4-583P15.14_ENST00000467211.1_Intron|LIME1_ENST00000490824.1_3'UTR|RP4-583P15.15_ENST00000490623.2_3'UTR|RP4-583P15.14_ENST00000476221.1_3'UTR	NM_017806.2	NP_060276.2	Q9H400	LIME1_HUMAN	Lck interacting transmembrane adaptor 1	219					B cell receptor signaling pathway (GO:0050853)|T cell receptor signaling pathway (GO:0050852)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				kidney(1)|large_intestine(1)|liver(1)	3	all_cancers(38;1.13e-12)|all_epithelial(29;2.64e-14)|Lung NSC(23;4.79e-10)|all_lung(23;1.7e-09)					GACCCGCTGGACCCCAAGGGC	0.667																																						ENST00000309546.3																			0				kidney(1)|large_intestine(1)|liver(1)	3						c.(655-657)gAc>gGc		Lck interacting transmembrane adaptor 1							25	31	29					20																	62370021		2196	4296	6492	SO:0001583	missense	54923							g.chr20:62370021A>G	AK000413	CCDS13536.1	20q13.33	2010-05-11			ENSG00000203896	ENSG00000203896			26016	protein-coding gene	gene with protein product		609809				12477932	Standard	NM_017806		Approved	FLJ20406, dJ583P15.4, LIME	uc002ygp.4	Q9H400	OTTHUMG00000032999	ENST00000309546.3:c.656A>G	20.37:g.62370021A>G	ENSP00000309521:p.Asp219Gly					ZGPAT_ENST00000490623.1_3'UTR|LIME1_ENST00000490824.1_3'UTR	p.D219G	NM_017806.2	NP_060276.2					6	743	+	all_cancers(38;1.13e-12)|all_epithelial(29;2.64e-14)|Lung NSC(23;4.79e-10)|all_lung(23;1.7e-09)							E1P5K5|E1P5K6|Q5JWJ2|Q6XYB3|Q9NX69	Missense_Mutation	SNP	ENST00000309546.3	37	c.656A>G	CCDS13536.1	.	.	.	.	.	.	.	.	.	.	a	10.15	1.272013	0.23221	.	.	ENSG00000203896	ENST00000309546	T	0.57595	0.39	3.15	0.505	0.16953	.	.	.	.	.	T	0.34366	0.0895	L	0.29908	0.895	0.09310	N	0.999991	B	0.06786	0.001	B	0.09377	0.004	T	0.29119	-1.0022	9	0.59425	D	0.04	.	2.4555	0.04528	0.4659:0.0:0.2531:0.2809	.	219	Q9H400	LIME1_HUMAN	G	219	ENSP00000309521:D219G	ENSP00000309521:D219G	D	+	2	0	LIME1	61840465	0.000000	0.05858	0.004000	0.12327	0.042000	0.13812	-0.048000	0.11944	0.410000	0.25675	0.375000	0.23000	GAC		0.667	LIME1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080225.1	NM_017806		10	45	0	0	0	1	0	10	45					G	62370021	A	G	62370021	3	3	124	1	0	0	0	0	1	0	0	0	8800	275	10	4	674	4	LIME1	20	62370021	Missense_Mutation	SNP	A	TCGA-EJ-A65M-01A-11D-A29Q-08	3855691	62370021	655499	48	6554											
ATF4	468	broad.mit.edu	37	chr22	39917543	39917543	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttgggggctgaagaaagcctAggtctcttagatgattacct	10	12	12	7	0	1	4	0	2	1	2	2	4	1	4	2	3	2	1	2	3	5	4	rs200926784		TCGA-EJ-A65M-01A-11D-A29Q-08	TCGA-EJ-A65M-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cea7ce0-744e-4962-ac48-f1944c48e13f	600ca654-1eb6-4434-bba1-210e230b973a	g.chr22:39917543A>G	ENST00000337304.2	+	1	975	c.93A>G	c.(91-93)ctA>ctG	p.L31L	ATF4_ENST00000396680.1_Silent_p.L31L|ATF4_ENST00000404241.2_Silent_p.L31L	NM_001675.2	NP_001666.2	P18848	ATF4_HUMAN	activating transcription factor 4	31					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular amino acid metabolic process (GO:0006520)|cellular protein metabolic process (GO:0044267)|circadian regulation of gene expression (GO:0032922)|endoplasmic reticulum unfolded protein response (GO:0030968)|gamma-aminobutyric acid signaling pathway (GO:0007214)|gluconeogenesis (GO:0006094)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|negative regulation of oxidative stress-induced neuron death (GO:1903204)|negative regulation of potassium ion transport (GO:0043267)|positive regulation of apoptotic process (GO:0043065)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to endoplasmic reticulum stress (GO:1990440)|positive regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0036091)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|response to endoplasmic reticulum stress (GO:0034976)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dendrite membrane (GO:0032590)|Lewy body core (GO:1990037)|neuron projection (GO:0043005)|nuclear periphery (GO:0034399)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)	11	Melanoma(58;0.04)				Pseudoephedrine(DB00852)	AAGAAAGCCTAGGTCTCTTAG	0.572																																						ENST00000337304.2																			0				breast(1)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)	11						c.(91-93)ctA>ctG		activating transcription factor 4							65	64	64					22																	39917543		2203	4300	6503	SO:0001819	synonymous_variant	468				cellular amino acid metabolic process|gluconeogenesis|positive regulation of transcription from RNA polymerase II promoter|response to endoplasmic reticulum stress|transcription from RNA polymerase II promoter	cytoplasm|plasma membrane	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr22:39917543A>G	D90209	CCDS13996.1	22q13.1	2013-05-23	2013-05-23		ENSG00000128272	ENSG00000128272		"basic leucine zipper proteins"	786	protein-coding gene	gene with protein product	"tax-responsive enhancer element B67"	604064	"activating transcription factor 4 (tax-responsive enhancer element B67)"	TXREB		1847461, 1534408	Standard	NM_182810		Approved	TAXREB67, CREB-2	uc003axz.3	P18848	OTTHUMG00000151099	ENST00000337304.2:c.93A>G	22.37:g.39917543A>G						ATF4_ENST00000404241.2_Silent_p.L31L|ATF4_ENST00000396680.1_Silent_p.L31L	p.L31L	NM_001675.2	NP_001666.2	P18848	ATF4_HUMAN			1	975	+	Melanoma(58;0.04)		31					Q9UH31	Silent	SNP	ENST00000337304.2	37	c.93A>G	CCDS13996.1																																																																																				0.572	ATF4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321305.1	NM_001675		32	97	0	0	0	1	0	32	97					G	39917543	A	G	39917543	2	3	124	1	0	0	0	0	0	0	0	1	1082	407	15	4		4	ATF4	22	39917543	Silent	SNP	A	TCGA-EJ-A65M-01A-11D-A29Q-08		39917543	11387023	49	6555											
CACNA1I	8911	broad.mit.edu	37	chr22	40042647	40042647	+	Frame_Shift_Del	DEL	A	A	-																															ctcggagaccaagcaacgggAgcaccggctgatgctggagc																										TCGA-EJ-A65M-01A-11D-A29Q-08	TCGA-EJ-A65M-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cea7ce0-744e-4962-ac48-f1944c48e13f	600ca654-1eb6-4434-bba1-210e230b973a	g.chr22:40042647delA	ENST00000402142.3	+	8	1223	c.1223delA	c.(1222-1224)gagfs	p.E408fs	CACNA1I_ENST00000401624.1_Frame_Shift_Del_p.E408fs|CACNA1I_ENST00000400164.3_Frame_Shift_Del_p.E408fs|CACNA1I_ENST00000407673.1_Frame_Shift_Del_p.E408fs|CACNA1I_ENST00000404898.1_Frame_Shift_Del_p.E408fs|CACNA1I_ENST00000336649.4_Frame_Shift_Del_p.E408fs	NM_021096.3	NP_066919.2	Q9P0X4	CAC1I_HUMAN	calcium channel, voltage-dependent, T type, alpha 1I subunit	408					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|signal transduction (GO:0007165)|sleep (GO:0030431)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Melanoma(58;0.0749)				Cinnarizine(DB00568)|Flunarizine(DB04841)|Paramethadione(DB00617)|Spironolactone(DB00421)|Verapamil(DB00661)|Zonisamide(DB00909)	AAGCAACGGGAGCACCGGCTG	0.612																																						ENST00000336649.4																			0				breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	60						c.(1222-1224)ggfs		calcium channel, voltage-dependent, T type, alpha 1I subunit	Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661)						13	15	14					22																	40042647		2102	4230	6332	SO:0001589	frameshift_variant	8911				axon guidance|signal transduction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity|protein binding	g.chr22:40042647delA	AF129133	CCDS46710.1, CCDS46711.1	22q13.1	2012-03-07	2007-02-16		ENSG00000100346	ENSG00000100346		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1396	protein-coding gene	gene with protein product		608230				10454147, 16382099	Standard	NM_021096		Approved	Cav3.3	uc003ayd.3	Q9P0X4	OTTHUMG00000151096	ENST00000402142.3:c.1223delA	22.37:g.40042647delA	ENSP00000385019:p.Glu408fs					CACNA1I_ENST00000407673.1_Frame_Shift_Del_p.E408fs|CACNA1I_ENST00000404898.1_Frame_Shift_Del_p.E408fs|CACNA1I_ENST00000402142.3_Frame_Shift_Del_p.E408fs|CACNA1I_ENST00000401624.1_Frame_Shift_Del_p.E408fs|CACNA1I_ENST00000400164.3_Frame_Shift_Del_p.E408fs	p.E408fs			Q9P0X4	CAC1I_HUMAN			10	1223	+	Melanoma(58;0.0749)		408					B0QY12|B0QY13|B0QY14|O95504|Q5JZ88|Q7Z6S9|Q8NFX6|Q9NZC8|Q9UH15|Q9UH30|Q9ULU9|Q9UNE6	Frame_Shift_Del	DEL	ENST00000402142.3	37	c.1223delA	CCDS46710.1																																																																																				0.612	CACNA1I-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000321290.1	NM_001003406		2	4						2	4	---	---	---	---	-	40042647	A	-	40042647	7	5	124	1	0	1	0	1	0	0	0	0	2546	304	11	0	1253	0	CACNA1I	22	40042647	Frame_Shift_Del	DEL	A	TCGA-EJ-A65M-01A-11D-A29Q-08	125104	40042647	11261919	50	6556											
KLHL13	90293	broad.mit.edu	37	chrX	117033092	117033092	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gattttattttcgaagacagCgaccccaacatcactctgcc	11	11	6	13	2	2	1	1	0	1	1	3	4	2	1	3	0	3	0	3	0	3	4			TCGA-EJ-A65M-01A-11D-A29Q-08	TCGA-EJ-A65M-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cea7ce0-744e-4962-ac48-f1944c48e13f	600ca654-1eb6-4434-bba1-210e230b973a	g.chrX:117033092C>T	ENST00000262820.3	-	7	2656	c.1747G>A	c.(1747-1749)Gct>Act	p.A583T	KLHL13_ENST00000371882.1_Missense_Mutation_p.A532T|KLHL13_ENST00000541812.1_Missense_Mutation_p.A567T|KLHL13_ENST00000539496.1_Missense_Mutation_p.A586T|KLHL13_ENST00000540167.1_Missense_Mutation_p.A567T|KLHL13_ENST00000469946.1_Missense_Mutation_p.A532T|KLHL13_ENST00000545703.1_Missense_Mutation_p.A541T|KLHL13_ENST00000371878.1_Missense_Mutation_p.A532T|KLHL13_ENST00000371876.1_Missense_Mutation_p.A532T	NM_033495.3	NP_277030.2	Q9P2N7	KLH13_HUMAN	kelch-like family member 13	583					cytokinesis (GO:0000910)|mitotic nuclear division (GO:0007067)|protein ubiquitination (GO:0016567)	Cul3-RING ubiquitin ligase complex (GO:0031463)				NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	34						TCGAAGACAGCGACCCCAACA	0.413																																						ENST00000371876.1																			0				NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	34						c.(1594-1596)Gct>Act		kelch-like family member 13							180	155	163					X																	117033092		2203	4300	6503	SO:0001583	missense	90293				cytokinesis|mitosis|protein ubiquitination	Cul3-RING ubiquitin ligase complex		g.chrX:117033092C>T	AB037730	CCDS14571.1, CCDS55479.1, CCDS55480.1, CCDS55481.1	Xq23-q24	2013-01-30	2013-01-30	2004-02-18	ENSG00000003096	ENSG00000003096		"Kelch-like", "BTB/POZ domain containing"	22931	protein-coding gene	gene with protein product		300655	"BTB and kelch domain containing 2, KIAA1309", "kelch-like 13 (Drosophila)"	BKLHD2, KIAA1309		10718198	Standard	NM_033495		Approved	FLJ10262	uc011mtp.2	Q9P2N7	OTTHUMG00000022252	ENST00000262820.3:c.1747G>A	X.37:g.117033092C>T	ENSP00000262820:p.Ala583Thr					KLHL13_ENST00000262820.3_Missense_Mutation_p.A583T|KLHL13_ENST00000469946.1_Missense_Mutation_p.A532T|KLHL13_ENST00000371882.1_Missense_Mutation_p.A532T|KLHL13_ENST00000541812.1_Missense_Mutation_p.A567T|KLHL13_ENST00000539496.1_Missense_Mutation_p.A586T|KLHL13_ENST00000371878.1_Missense_Mutation_p.A532T|KLHL13_ENST00000540167.1_Missense_Mutation_p.A567T|KLHL13_ENST00000545703.1_Missense_Mutation_p.A541T	p.A532T			Q9P2N7	KLH13_HUMAN			6	4015	-			583					B3KV78|B3KWM7|B7Z3S9|B7Z5P2|B7Z802|D3DWH6|Q6P2E3|Q96QI7|Q9UDN9	Missense_Mutation	SNP	ENST00000262820.3	37	c.1594G>A	CCDS14571.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.967507	0.74131	.	.	ENSG00000003096	ENST00000371882;ENST00000371876;ENST00000371878;ENST00000447671;ENST00000541812;ENST00000540167;ENST00000539496;ENST00000262820;ENST00000545703;ENST00000469946	T;T;T;T;T;T;T;T;T;T	0.80480	-1.38;-1.38;-1.38;-1.38;-1.38;-1.38;-1.38;-1.38;-1.38;-1.38	5.25	5.25	0.73442	Galactose oxidase, beta-propeller (1);	0.103199	0.64402	D	0.000003	T	0.79381	0.4436	L	0.39514	1.22	0.80722	D	1	P;P;P;P	0.48694	0.809;0.82;0.809;0.914	B;P;B;P	0.48270	0.293;0.496;0.293;0.572	T	0.76966	-0.2763	10	0.27082	T	0.32	.	17.9026	0.88909	0.0:1.0:0.0:0.0	.	567;586;577;583	Q9P2N7-3;Q9P2N7-5;Q9P2N7-4;Q9P2N7	.;.;.;KLH13_HUMAN	T	532;532;532;532;567;567;586;583;541;532	ENSP00000360949:A532T;ENSP00000360943:A532T;ENSP00000360945:A532T;ENSP00000412640:A532T;ENSP00000444450:A567T;ENSP00000441029:A567T;ENSP00000443191:A586T;ENSP00000262820:A583T;ENSP00000440707:A541T;ENSP00000419803:A532T	ENSP00000262820:A583T	A	-	1	0	KLHL13	116917120	1.000000	0.71417	0.860000	0.33809	0.973000	0.67179	5.913000	0.69957	2.417000	0.82017	0.600000	0.82982	GCT		0.413	KLHL13-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_033495		4	117	0	0	0	1	0	4	117					T	117033092	C	T	117033092	3	4	124	1	0	0	0	0	1	0	0	0	8369	768	27	1	224	1	KLHL13	23	117033092	Missense_Mutation	SNP	C	TCGA-EJ-A65M-01A-11D-A29Q-08		117033092	38237468	51	6557											
GRHL3	57822	broad.mit.edu	37	chr1	24669481	24669481	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	acccgtgctgttcatccccaAtgtgcacttctccagcctgc	6	11	7	17	1	2	0	1	0	1	0	4	0	3	0	5	0	4	3	5	0	1	2	rs143169996		TCGA-EJ-A6RA-01A-11D-A33T-08	TCGA-EJ-A6RA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	456a9fb1-804b-413e-ab74-dd30d4e6954e	40ec64e3-ca43-4bac-8a1a-62f299e29f7c	g.chr1:24669481A>G	ENST00000350501.5	+	11	1512	c.1385A>G	c.(1384-1386)aAt>aGt	p.N462S	GRHL3_ENST00000356046.2_Missense_Mutation_p.N416S|GRHL3_ENST00000236255.4_Missense_Mutation_p.N467S|GRHL3_ENST00000361548.4_Missense_Mutation_p.N462S|GRHL3_ENST00000342072.4_Missense_Mutation_p.N369S	NM_198174.2	NP_937817.3	Q8TE85	GRHL3_HUMAN	grainyhead-like 3 (Drosophila)	462					central nervous system development (GO:0007417)|cochlea morphogenesis (GO:0090103)|ectoderm development (GO:0007398)|epidermis development (GO:0008544)|establishment of planar polarity (GO:0001736)|eyelid development in camera-type eye (GO:0061029)|pattern specification process (GO:0007389)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of actin cytoskeleton organization (GO:0032956)|wound healing (GO:0042060)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.00171)|all_lung(284;0.00226)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;8.72e-25)|Colorectal(126;4.38e-08)|COAD - Colon adenocarcinoma(152;1.84e-06)|GBM - Glioblastoma multiforme(114;0.000132)|BRCA - Breast invasive adenocarcinoma(304;0.00105)|STAD - Stomach adenocarcinoma(196;0.00151)|KIRC - Kidney renal clear cell carcinoma(1967;0.00377)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.143)		TTCATCCCCAATGTGCACTTC	0.662													A|||	1	0.000199681	0	0	5008	,	,		16955	0		0.001	False		,,,				2504	0					ENST00000361548.4																			0				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						c.(1384-1386)aAt>aGt		grainyhead-like 3 (Drosophila)		A	SER/ASN,SER/ASN,SER/ASN,SER/ASN	1,4405	2.1+/-5.4	0,1,2202	109	117	114		1247,1400,1385,1385	5.3	1	1	dbSNP_134	114	4,8596	3.7+/-12.6	0,4,4296	yes	missense,missense,missense,missense	GRHL3	NM_001195010.1,NM_021180.3,NM_198173.2,NM_198174.2	46,46,46,46	0,5,6498	GG,GA,AA		0.0465,0.0227,0.0384	possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging	416/557,467/608,462/603,462/627	24669481	5,13001	2203	4300	6503	SO:0001583	missense	57822				regulation of actin cytoskeleton organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr1:24669481A>G	AY231161	CCDS251.1, CCDS252.1, CCDS44088.1, CCDS252.2, CCDS53284.1	1p36	2008-02-05	2005-07-11	2005-07-11	ENSG00000158055	ENSG00000158055			25839	protein-coding gene	gene with protein product		608317	"transcription factor CP2-like 4"	TFCP2L4		12549979	Standard	NM_021180		Approved	SOM	uc021oiw.1	Q8TE85	OTTHUMG00000003040	ENST00000350501.5:c.1385A>G	1.37:g.24669481A>G	ENSP00000288955:p.Asn462Ser					GRHL3_ENST00000356046.2_Missense_Mutation_p.N416S|GRHL3_ENST00000350501.5_Missense_Mutation_p.N462S|GRHL3_ENST00000342072.4_Missense_Mutation_p.N369S|GRHL3_ENST00000236255.4_Missense_Mutation_p.N467S	p.N462S	NM_198173.2	NP_937816.1	Q8TE85	GRHL3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;8.72e-25)|Colorectal(126;4.38e-08)|COAD - Colon adenocarcinoma(152;1.84e-06)|GBM - Glioblastoma multiforme(114;0.000132)|BRCA - Breast invasive adenocarcinoma(304;0.00105)|STAD - Stomach adenocarcinoma(196;0.00151)|KIRC - Kidney renal clear cell carcinoma(1967;0.00377)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.143)	11	1615	+		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.00171)|all_lung(284;0.00226)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)	462					A2A297|B2RCL1|G3XAF0|Q5TH78|Q86Y06|Q8N407	Missense_Mutation	SNP	ENST00000350501.5	37	c.1385A>G	CCDS252.2	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	A	14.19	2.461375	0.43736	2.27E-4	4.65E-4	ENSG00000158055	ENST00000361548;ENST00000342072;ENST00000350501;ENST00000356046;ENST00000236255	T;T;T;T;T	0.11495	2.98;2.77;2.96;2.98;2.98	5.27	5.27	0.74061	.	0.135823	0.64402	D	0.000003	T	0.07503	0.0189	N	0.19112	0.55	0.48830	D	0.999712	B;P;P	0.35272	0.181;0.493;0.493	B;B;B	0.29942	0.051;0.109;0.109	T	0.40156	-0.9578	10	0.30854	T	0.27	-33.1163	14.5217	0.67853	1.0:0.0:0.0:0.0	.	416;467;462	A2A297;Q8TE85-2;G3XAF0	.;.;.	S	462;369;462;416;467	ENSP00000354943:N462S;ENSP00000340543:N369S;ENSP00000288955:N462S;ENSP00000348333:N416S;ENSP00000236255:N467S	ENSP00000236255:N467S	N	+	2	0	GRHL3	24542068	1.000000	0.71417	0.960000	0.40013	0.457000	0.32468	4.952000	0.63618	2.216000	0.71823	0.459000	0.35465	AAT		0.662	GRHL3-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000009047.2	NM_021180		4	203	0	0	0	1	0	4	203					G	24669481	A	G	24669481	3	3	125	1	0	0	0	0	1	0	0	0	6765	101	4	4	1463	4	GRHL3	1	24669481	Missense_Mutation	SNP	A	TCGA-EJ-A6RA-01A-11D-A33T-08		24669481	224581140	1	6558											
FMO4	2329	broad.mit.edu	37	chr1	171301877	171301877	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	agtactagaactggtacctgGgttcttgggcgctcttcaga	8	12	12	9	1	3	2	1	0	2	2	3	2	3	2	1	3	3	4	1	3	4	6			TCGA-EJ-A6RA-01A-11D-A33T-08	TCGA-EJ-A6RA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	456a9fb1-804b-413e-ab74-dd30d4e6954e	40ec64e3-ca43-4bac-8a1a-62f299e29f7c	g.chr1:171301877G>C	ENST00000367749.3	+	7	987	c.657G>C	c.(655-657)tgG>tgC	p.W219C	FMO4_ENST00000462992.1_3'UTR	NM_002022.1	NP_002013.1	P31512	FMO4_HUMAN	flavin containing monooxygenase 4	219					drug catabolic process (GO:0042737)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	flavin adenine dinucleotide binding (GO:0050660)|N,N-dimethylaniline monooxygenase activity (GO:0004499)|NADP binding (GO:0050661)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	33	all_cancers(6;3.9e-08)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181)					CTGGTACCTGGGTTCTTGGGC	0.363																																					Pancreas(24;816 862 7754 7993 32832)	ENST00000367749.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						c.(655-657)tgG>tgC		flavin containing monooxygenase 4							146	144	145					1																	171301877		2203	4300	6503	SO:0001583	missense	2329				xenobiotic metabolic process	integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding	g.chr1:171301877G>C	BC002780	CCDS1295.1	1q24.3	2011-08-04			ENSG00000076258	ENSG00000076258	1.14.13.8		3772	protein-coding gene	gene with protein product		136131		FMO2		8311461	Standard	NM_002022		Approved		uc001gho.3	P31512	OTTHUMG00000035506	ENST00000367749.3:c.657G>C	1.37:g.171301877G>C	ENSP00000356723:p.Trp219Cys					FMO4_ENST00000462992.1_3'UTR	p.W219C	NM_002022.1	NP_002013.1	P31512	FMO4_HUMAN			7	987	+	all_cancers(6;3.9e-08)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181)		219					Q53XR0	Missense_Mutation	SNP	ENST00000367749.3	37	c.657G>C	CCDS1295.1	.	.	.	.	.	.	.	.	.	.	G	17.30	3.354361	0.61293	.	.	ENSG00000076258	ENST00000367749	T	0.66280	-0.2	5.93	5.02	0.67125	.	0.127611	0.64402	D	0.000018	D	0.82481	0.5046	H	0.96048	3.76	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.88566	0.3126	10	0.87932	D	0	-8.1658	14.524	0.67873	0.0707:0.0:0.9293:0.0	.	219	P31512	FMO4_HUMAN	C	219	ENSP00000356723:W219C	ENSP00000356723:W219C	W	+	3	0	FMO4	169568501	1.000000	0.71417	0.999000	0.59377	0.551000	0.35334	8.447000	0.90332	1.505000	0.48720	0.655000	0.94253	TGG		0.363	FMO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086223.1	NM_002022		8	113	0	0	0	1	0	8	113					C	171301877	G	C	171301877	3	2	125	1	0	0	0	0	1	0	0	0	5957	1241	43	5	675	5	FMO4	1	171301877	Missense_Mutation	SNP	G	TCGA-EJ-A6RA-01A-11D-A33T-08	146632396	171301877	77948744	2	6559											
TFCP2L1	29842	broad.mit.edu	37	chr2	122038720	122038720	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gttgaggtaggtcagcgtctCttcatgcagcttcacggctg	6	12	13	10	2	4	1	3	1	1	0	5	1	4	1	0	3	3	5	0	3	1	4			TCGA-EJ-A6RA-01A-11D-A33T-08	TCGA-EJ-A6RA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	456a9fb1-804b-413e-ab74-dd30d4e6954e	40ec64e3-ca43-4bac-8a1a-62f299e29f7c	g.chr2:122038720C>G	ENST00000263707.5	-	2	287	c.190G>C	c.(190-192)Gag>Cag	p.E64Q		NM_014553.2	NP_055368.1	Q9NZI6	TF2L1_HUMAN	transcription factor CP2-like 1	64					cell morphogenesis (GO:0000902)|cytoplasm organization (GO:0007028)|determination of adult lifespan (GO:0008340)|epithelial cell maturation (GO:0002070)|female pregnancy (GO:0007565)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of growth (GO:0045927)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|salivary gland development (GO:0007431)|steroid biosynthetic process (GO:0006694)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			cervix(1)|endometrium(4)|large_intestine(5)|lung(7)|ovary(1)|pancreas(2)|skin(1)|stomach(1)	22	Renal(3;0.01)					GTCAGCGTCTCTTCATGCAGC	0.637																																						ENST00000263707.5																			0				cervix(1)|endometrium(4)|large_intestine(5)|lung(7)|ovary(1)|pancreas(2)|skin(1)|stomach(1)	22						c.(190-192)Gag>Cag		transcription factor CP2-like 1							80	84	83					2																	122038720		2203	4300	6503	SO:0001583	missense	29842				female pregnancy|steroid biosynthetic process	mitochondrion|nucleolus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr2:122038720C>G	AF198488	CCDS2134.1	2q14	2008-02-05			ENSG00000115112	ENSG00000115112			17925	protein-coding gene	gene with protein product		609785				10644752, 11073954	Standard	NM_014553		Approved	LBP-9, CRTR1	uc002tmx.3	Q9NZI6	OTTHUMG00000131443	ENST00000263707.5:c.190G>C	2.37:g.122038720C>G	ENSP00000263707:p.Glu64Gln						p.E64Q	NM_014553.2	NP_055368.1	Q9NZI6	TF2L1_HUMAN			2	287	-	Renal(3;0.01)		64					Q4ZG43	Missense_Mutation	SNP	ENST00000263707.5	37	c.190G>C	CCDS2134.1	.	.	.	.	.	.	.	.	.	.	C	32	5.176257	0.94846	.	.	ENSG00000115112	ENST00000263707	T	0.18338	2.22	5.2	5.2	0.72013	CP2 transcription factor (1);	0.000000	0.85682	D	0.000000	T	0.49745	0.1575	M	0.88570	2.965	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.97110	0.996;1.0	T	0.53528	-0.8426	10	0.34782	T	0.22	.	18.7572	0.91837	0.0:1.0:0.0:0.0	.	64;64	Q5JV87;Q9NZI6	.;TF2L1_HUMAN	Q	64	ENSP00000263707:E64Q	ENSP00000263707:E64Q	E	-	1	0	TFCP2L1	121755190	1.000000	0.71417	0.985000	0.45067	0.978000	0.69477	7.818000	0.86416	2.429000	0.82318	0.655000	0.94253	GAG		0.637	TFCP2L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338539.1	NM_014553		7	95	0	0	0	1	0	7	95					G	122038720	C	G	122038720	3	3	125	1	0	0	0	0	1	0	0	0	15793	922	32	5	1305	5	TFCP2L1	2	122038720	Missense_Mutation	SNP	C	TCGA-EJ-A6RA-01A-11D-A33T-08		122038720	121160653	3	6560											
WDR33	55339	broad.mit.edu	37	chr2	128476956	128476956	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttctgctgtccctgaggtccGgggggtccttgcatgccacc	3	11	13	14	1	1	1	0	1	1	0	4	1	4	1	5	4	3	2	5	4	0	2			TCGA-EJ-A6RA-01A-11D-A33T-08	TCGA-EJ-A6RA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	456a9fb1-804b-413e-ab74-dd30d4e6954e	40ec64e3-ca43-4bac-8a1a-62f299e29f7c	g.chr2:128476956G>A	ENST00000322313.4	-	16	2801	c.2643C>T	c.(2641-2643)ccC>ccT	p.P881P		NM_018383.4	NP_060853.3	Q9C0J8	WDR33_HUMAN	WD repeat domain 33	881					mRNA processing (GO:0006397)|postreplication repair (GO:0006301)|spermatogenesis (GO:0007283)	collagen trimer (GO:0005581)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0695)		CCTGAGGTCCGGGGGGTCCTT	0.627																																						ENST00000322313.4																			0				NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39						c.(2641-2643)ccC>ccT		WD repeat domain 33							77	84	82					2																	128476956		2203	4300	6503	SO:0001819	synonymous_variant	55339				postreplication repair|spermatogenesis	collagen|nucleus	protein binding	g.chr2:128476956G>A		CCDS2150.1, CCDS42746.1, CCDS46407.1	2q21.1	2013-01-09			ENSG00000136709	ENSG00000136709		"WD repeat domain containing"	25651	protein-coding gene	gene with protein product						11162572	Standard	NM_001006622		Approved	FLJ11294, WDC146, NET14	uc002tpg.2	Q9C0J8	OTTHUMG00000131534	ENST00000322313.4:c.2643C>T	2.37:g.128476956G>A							p.P881P	NM_018383.4	NP_060853.3	Q9C0J8	WDR33_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0695)	16	2801	-	Colorectal(110;0.1)		881					Q05DP8|Q53FG9|Q587J1|Q69YF7|Q6NUQ0|Q9NUL1	Silent	SNP	ENST00000322313.4	37	c.2643C>T	CCDS2150.1																																																																																				0.627	WDR33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331141.2	NM_018383		4	92	0	0	0	1	0	4	92					A	128476956	G	A	128476956	2	1	125	1	0	0	0	0	0	0	0	1	17284	1103	39	2		2	WDR33	2	128476956	Silent	SNP	G	TCGA-EJ-A6RA-01A-11D-A33T-08	6438236	128476956	114722417	4	6561											
LRP1B	53353	broad.mit.edu	37	chr2	141625171	141625171	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcacttaccctgtggctggcGactgggatggtatatctgaa	8	11	13	9	1	1	1	0	1	1	0	1	3	1	2	1	4	1	3	1	4	4	3			TCGA-EJ-A6RA-01A-11D-A33T-08	TCGA-EJ-A6RA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	456a9fb1-804b-413e-ab74-dd30d4e6954e	40ec64e3-ca43-4bac-8a1a-62f299e29f7c	g.chr2:141625171G>A	ENST00000389484.3	-	27	5538	c.4567C>T	c.(4567-4569)Cgc>Tgc	p.R1523C		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	1523					protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TGTGGCTGGCGACTGGGATGG	0.388										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	ENST00000389484.3																			0				NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606						c.(4567-4569)Cgc>Tgc		low density lipoprotein receptor-related protein 1B							149	135	140					2																	141625171		2203	4300	6503	SO:0001583	missense	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141625171G>A	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"Low density lipoprotein receptors"	6693	protein-coding gene	gene with protein product	"LRP-deleted in tumors"	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.4567C>T	2.37:g.141625171G>A	ENSP00000374135:p.Arg1523Cys	TSP Lung(27;0.18)					p.R1523C	NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)	27	5538	-		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)	1523					Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	c.4567C>T	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	G	16.13	3.036423	0.54896	.	.	ENSG00000168702	ENST00000389484;ENST00000544579;ENST00000434794	D;D	0.92048	-2.96;-2.96	5.42	4.51	0.55191	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.64402	D	0.000001	D	0.97081	0.9046	H	0.94222	3.51	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.973;0.996	D	0.97845	1.0271	10	0.66056	D	0.02	.	15.0623	0.71964	0.0:0.0:0.8526:0.1474	.	706;1523	Q96NT6;Q9NZR2	.;LRP1B_HUMAN	C	1523;1461;668	ENSP00000374135:R1523C;ENSP00000413239:R668C	ENSP00000374135:R1523C	R	-	1	0	LRP1B	141341641	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.526000	0.53509	1.228000	0.43614	0.655000	0.94253	CGC		0.388	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		10	112	0	0	0	1	0	10	112					A	141625171	G	A	141625171	3	1	125	1	0	0	0	0	1	0	0	0	8955	1058	37	2	9492	2	LRP1B	2	141625171	Missense_Mutation	SNP	G	TCGA-EJ-A6RA-01A-11D-A33T-08	13148215	141625171	101574202	5	6562											
SNTN	132203	broad.mit.edu	37	chr3	63638399	63638399	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacagtacccaggacaaatcTctccacttggaaggagatcc	13	7	8	13	0	1	1	0	0	1	1	4	4	3	3	3	3	1	1	3	3	3	2			TCGA-EJ-A6RA-01A-11D-A33T-08	TCGA-EJ-A6RA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	456a9fb1-804b-413e-ab74-dd30d4e6954e	40ec64e3-ca43-4bac-8a1a-62f299e29f7c	g.chr3:63638399T>C	ENST00000343837.3	+	1	56	c.36T>C	c.(34-36)tcT>tcC	p.S12S	SNTN_ENST00000496807.1_Silent_p.S8S	NM_001080537.1	NP_001074006.1	A6NMZ2	SNTAN_HUMAN	sentan, cilia apical structure protein	12						cilium (GO:0005929)	calcium ion binding (GO:0005509)			endometrium(2)|ovary(1)	3						AGGACAAATCTCTCCACTTGG	0.488																																						ENST00000496807.1																			0				endometrium(2)|ovary(1)	3						c.(22-24)tcT>tcC		sentan, cilia apical structure protein							133	101	112					3																	63638399		2203	4300	6503	SO:0001819	synonymous_variant	132203					cilium	calcium ion binding	g.chr3:63638399T>C	AK126350	CCDS33779.1	3p14.2	2009-03-10	2009-03-10		ENSG00000188817	ENSG00000188817			33706	protein-coding gene	gene with protein product	"S100A-like protein"					18829862	Standard	NM_001080537		Approved	FLJ44379, S100AL	uc003dlr.3	A6NMZ2	OTTHUMG00000158766	ENST00000343837.3:c.36T>C	3.37:g.63638399T>C						SNTN_ENST00000343837.3_Silent_p.S12S	p.S8S			A6NMZ2	SNTAN_HUMAN			1	26	+			12					B7FF65	Silent	SNP	ENST00000343837.3	37	c.24T>C	CCDS33779.1																																																																																				0.488	SNTN-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352094.1	NM_001080537		3	42	0	0	0	1	0	3	42					C	63638399	T	C	63638399	2	2	125	1	0	0	0	0	0	0	0	1	14876	1538	54	4		4	SNTN	3	63638399	Silent	SNP	T	TCGA-EJ-A6RA-01A-11D-A33T-08		63638399	134384031	6	6563											
SEC31A	22872	broad.mit.edu	37	chr4	83788357	83788357	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctgtgctacctcccatgataGaataaacactgatacgccca	13	9	6	13	1	0	3	0	2	0	1	1	3	1	3	3	0	4	1	3	0	6	4			TCGA-EJ-A6RA-01A-11D-A33T-08	TCGA-EJ-A6RA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	456a9fb1-804b-413e-ab74-dd30d4e6954e	40ec64e3-ca43-4bac-8a1a-62f299e29f7c	g.chr4:83788357G>C	ENST00000395310.2	-	9	1177	c.995C>G	c.(994-996)tCt>tGt	p.S332C	SEC31A_ENST00000505984.1_Missense_Mutation_p.S332C|SEC31A_ENST00000355196.2_Missense_Mutation_p.S332C|SEC31A_ENST00000505472.1_Missense_Mutation_p.S332C|SEC31A_ENST00000311785.7_Missense_Mutation_p.S332C|SEC31A_ENST00000500777.2_Missense_Mutation_p.S332C|SEC31A_ENST00000432794.1_Missense_Mutation_p.S332C|SEC31A_ENST00000448323.1_Missense_Mutation_p.S332C|SEC31A_ENST00000264405.5_Missense_Mutation_p.S104C|SEC31A_ENST00000508502.1_Missense_Mutation_p.S332C|SEC31A_ENST00000508479.1_Missense_Mutation_p.S332C|SEC31A_ENST00000513858.1_Missense_Mutation_p.S332C|SEC31A_ENST00000326950.5_Missense_Mutation_p.S332C|SEC31A_ENST00000436790.2_5'UTR|SEC31A_ENST00000509142.1_Missense_Mutation_p.S332C|SEC31A_ENST00000348405.4_Missense_Mutation_p.S332C|SEC31A_ENST00000443462.2_Missense_Mutation_p.S327C	NM_001077207.2|NM_001077208.2|NM_014933.3	NP_001070675.1|NP_001070676.1|NP_055748.2	O94979	SC31A_HUMAN	SEC31 homolog A (S. cerevisiae)	332	Interaction with SEC13.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular protein metabolic process (GO:0044267)|COPII vesicle coating (GO:0048208)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER to Golgi vesicle-mediated transport (GO:0006888)|membrane organization (GO:0061024)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|protein transport (GO:0015031)|response to calcium ion (GO:0051592)	COPII vesicle coat (GO:0030127)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum exit site (GO:0070971)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle (GO:0030134)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|intracellular membrane-bounded organelle (GO:0043231)|perinuclear region of cytoplasm (GO:0048471)|vesicle coat (GO:0030120)	calcium-dependent protein binding (GO:0048306)		SEC31A/ALK(3)|SEC31A/JAK2(4)	breast(1)	1		Hepatocellular(203;0.114)				TCCCATGATAGAATAAACACT	0.413																																						ENST00000432794.1																		SEC31A/ALK(3)|SEC31A/JAK2(4)	0				breast(1)	1						c.(994-996)tCt>tGt		SEC31 homolog A (S. cerevisiae)							132	119	124					4																	83788357		2203	4300	6503	SO:0001583	missense	22872				COPII vesicle coating|post-translational protein modification|protein N-linked glycosylation via asparagine|protein transport|response to calcium ion	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|perinuclear region of cytoplasm	calcium-dependent protein binding	g.chr4:83788357G>C	AB018358	CCDS3596.1, CCDS3597.1, CCDS43244.1, CCDS47088.1, CCDS54773.1, CCDS75155.1, CCDS75156.1	4q21.3	2013-01-10	2006-10-05	2006-09-07	ENSG00000138674	ENSG00000138674		"WD repeat domain containing"	17052	protein-coding gene	gene with protein product		610257	"SEC31-like 1 (S. cerevisiae)", "Sec31 homolog A (S. cerevisiae)"	SEC31L1		10048485, 10788476	Standard	NM_001077206		Approved	KIAA0905, ABP125, ABP130	uc003hnh.3	O94979	OTTHUMG00000130297	ENST00000395310.2:c.995C>G	4.37:g.83788357G>C	ENSP00000378721:p.Ser332Cys					SEC31A_ENST00000509142.1_Missense_Mutation_p.S332C|SEC31A_ENST00000508502.1_Missense_Mutation_p.S332C|SEC31A_ENST00000505984.1_Missense_Mutation_p.S332C|SEC31A_ENST00000500777.2_Missense_Mutation_p.S332C|SEC31A_ENST00000436790.2_5'UTR|SEC31A_ENST00000448323.1_Missense_Mutation_p.S332C|SEC31A_ENST00000443462.2_Missense_Mutation_p.S327C|SEC31A_ENST00000395310.2_Missense_Mutation_p.S332C|SEC31A_ENST00000355196.2_Missense_Mutation_p.S332C|SEC31A_ENST00000348405.4_Missense_Mutation_p.S332C|SEC31A_ENST00000326950.5_Missense_Mutation_p.S332C|SEC31A_ENST00000311785.7_Missense_Mutation_p.S332C|SEC31A_ENST00000508479.1_Missense_Mutation_p.S332C|SEC31A_ENST00000264405.5_Missense_Mutation_p.S104C|SEC31A_ENST00000505472.1_Missense_Mutation_p.S332C|SEC31A_ENST00000513858.1_Missense_Mutation_p.S332C	p.S332C			O94979	SC31A_HUMAN			9	1158	-		Hepatocellular(203;0.114)	332			Interaction with SEC13.		B4DIW6|B7ZKZ7|B7ZL00|H7C2W3|Q17RR5|Q5H9P6|Q5XG74|Q659G7|Q6ZU90|Q7LCX9|Q86TJ0|Q8IZH4|Q9P048|Q9P0A6|Q9UM05|Q9UM06	Missense_Mutation	SNP	ENST00000395310.2	37	c.995C>G	CCDS3596.1	.	.	.	.	.	.	.	.	.	.	G	33	5.238745	0.95240	.	.	ENSG00000138674	ENST00000348405;ENST00000513858;ENST00000395310;ENST00000443462;ENST00000509142;ENST00000432794;ENST00000448323;ENST00000326950;ENST00000311785;ENST00000505472;ENST00000500777;ENST00000508502;ENST00000355196;ENST00000264405;ENST00000505984;ENST00000508479	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.68331	1.57;1.57;1.57;1.42;1.57;1.57;1.57;1.57;1.57;1.57;1.57;1.57;1.57;-0.32;1.57;1.57	5.54	5.54	0.83059	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.84999	0.5597	M	0.87682	2.9	0.80722	D	1	D;D;D;D;D;D;D;D;D;D	0.89917	0.994;0.998;0.998;0.988;0.999;0.989;1.0;0.995;0.997;0.998	D;D;P;P;D;D;D;P;D;D	0.75484	0.945;0.929;0.891;0.806;0.978;0.923;0.986;0.878;0.926;0.967	D	0.86835	0.2013	10	0.87932	D	0	-20.5567	19.8364	0.96659	0.0:0.0:1.0:0.0	.	327;332;332;332;332;332;332;332;332;104	B4DIW6;B7ZL00;O94979-5;D6RHZ5;O94979-6;O94979-4;O94979-3;O94979-2;O94979;O94979-7	.;.;.;.;.;.;.;.;SC31A_HUMAN;.	C	332;332;332;327;332;332;332;332;332;332;332;332;332;104;332;332	ENSP00000337602:S332C;ENSP00000426886:S332C;ENSP00000378721:S332C;ENSP00000408027:S327C;ENSP00000426569:S332C;ENSP00000407944:S332C;ENSP00000400926:S332C;ENSP00000325087:S332C;ENSP00000309070:S332C;ENSP00000421633:S332C;ENSP00000421464:S332C;ENSP00000424635:S332C;ENSP00000347329:S332C;ENSP00000264405:S104C;ENSP00000424451:S332C;ENSP00000425999:S332C	ENSP00000264405:S104C	S	-	2	0	SEC31A	84007381	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.799000	0.99117	2.765000	0.95021	0.573000	0.79308	TCT		0.413	SEC31A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252640.1	NM_016211		3	81	0	0	0	1	0	3	81					C	83788357	G	C	83788357	3	2	125	1	0	0	0	0	1	0	0	0	13998	942	33	5	2743	5	SEC31A	4	83788357	Missense_Mutation	SNP	G	TCGA-EJ-A6RA-01A-11D-A33T-08		83788357	107365919	7	6564											
KIAA1109	84162	broad.mit.edu	37	chr4	123202796	123202796	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatgaatttcctcagctaccAgaaggcttagaaaagaagcc	16	8	8	9	0	1	4	1	1	0	3	2	4	2	4	3	1	3	2	3	1	8	3			TCGA-EJ-A6RA-01A-11D-A33T-08	TCGA-EJ-A6RA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	456a9fb1-804b-413e-ab74-dd30d4e6954e	40ec64e3-ca43-4bac-8a1a-62f299e29f7c	g.chr4:123202796A>G	ENST00000264501.4	+	52	9277	c.8904A>G	c.(8902-8904)ccA>ccG	p.P2968P	KIAA1109_ENST00000388738.3_Silent_p.P2968P|KIAA1109_ENST00000455637.1_Silent_p.P2968P			Q2LD37	K1109_HUMAN	KIAA1109	2968					regulation of cell growth (GO:0001558)|regulation of epithelial cell differentiation (GO:0030856)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						CTCAGCTACCAGAAGGCTTAG	0.388																																						ENST00000264501.4																			0				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						c.(8902-8904)ccA>ccG		KIAA1109							113	106	109					4																	123202796		1824	4089	5913	SO:0001819	synonymous_variant	84162				regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus		g.chr4:123202796A>G	AL137384	CCDS43267.1	4q28.1	2012-07-09			ENSG00000138688	ENSG00000138688			26953	protein-coding gene	gene with protein product	"fragile site-associated"	611565				16386706	Standard	NM_015312		Approved	FLJ21404, FSA, KIAA1371, Tweek	uc003ieh.3	Q2LD37	OTTHUMG00000150116	ENST00000264501.4:c.8904A>G	4.37:g.123202796A>G						KIAA1109_ENST00000388738.3_Silent_p.P2968P|KIAA1109_ENST00000455637.1_Silent_p.P2968P	p.P2968P			Q2LD37	K1109_HUMAN			52	9277	+			2968					Q4W598|Q5CZA9|Q6ZS70|Q6ZV75|Q86XA5|Q8WVD8|Q9H742|Q9NT48|Q9NTC3|Q9NTI4|Q9P2H6|Q9UPP3	Silent	SNP	ENST00000264501.4	37	c.8904A>G	CCDS43267.1	.	.	.	.	.	.	.	.	.	.	A	9.414	1.081333	0.20309	.	.	ENSG00000138688	ENST00000419325	.	.	.	5.46	-7.83	0.01201	.	.	.	.	.	T	0.34106	0.0886	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.38845	-0.9642	4	.	.	.	.	1.4871	0.02449	0.3497:0.1707:0.0853:0.3943	.	.	.	.	G	926	.	.	R	+	1	2	KIAA1109	123422246	0.544000	0.26441	0.916000	0.36221	0.993000	0.82548	-0.241000	0.08940	-1.599000	0.01605	-0.438000	0.05819	AGA		0.388	KIAA1109-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316415.1	NM_020797		6	90	0	0	0	1	0	6	90					G	123202796	A	G	123202796	2	3	125	1	0	0	0	0	0	0	0	1	8208	175	7	4		4	KIAA1109	4	123202796	Silent	SNP	A	TCGA-EJ-A6RA-01A-11D-A33T-08	39414439	123202796	67951480	8	6565											
MAN2A1	4124	broad.mit.edu	37	chr5	109200789	109200789	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gatcctccacagaaaagggtTtgattgtcggttctctagca	10	12	10	9	1	1	2	0	1	1	1	5	3	3	2	2	2	1	3	2	2	3	4			TCGA-EJ-A6RA-01A-11D-A33T-08	TCGA-EJ-A6RA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	456a9fb1-804b-413e-ab74-dd30d4e6954e	40ec64e3-ca43-4bac-8a1a-62f299e29f7c	g.chr5:109200789T>G	ENST00000261483.4	+	21	4276	c.3224T>G	c.(3223-3225)tTt>tGt	p.F1075C	MAN2A1_ENST00000505313.1_3'UTR	NM_002372.2	NP_002363.2	Q16706	MA2A1_HUMAN	mannosidase, alpha, class 2A, member 1	1075					cellular protein metabolic process (GO:0044267)|in utero embryonic development (GO:0001701)|liver development (GO:0001889)|lung alveolus development (GO:0048286)|mannose metabolic process (GO:0006013)|mitochondrion organization (GO:0007005)|N-glycan processing (GO:0006491)|positive regulation of neurogenesis (GO:0050769)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|respiratory gaseous exchange (GO:0007585)|retina morphogenesis in camera-type eye (GO:0060042)|vacuole organization (GO:0007033)	cis-Golgi network (GO:0005801)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)|hydrolase activity, hydrolyzing N-glycosyl compounds (GO:0016799)|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity (GO:0004572)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|endometrium(7)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_cancers(142;8.66e-07)|all_epithelial(76;7.73e-09)|Prostate(80;0.000303)|Lung NSC(167;0.0186)|all_lung(232;0.0241)|Ovarian(225;0.0444)|Colorectal(57;0.0959)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;2.17e-10)|Epithelial(69;1.37e-09)|COAD - Colon adenocarcinoma(37;0.141)		AGAAAAGGGTTTGATTGTCGG	0.453																																						ENST00000261483.4																			0				breast(2)|central_nervous_system(2)|endometrium(7)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	55						c.(3223-3225)tTt>tGt		mannosidase, alpha, class 2A, member 1							159	142	148					5																	109200789		2202	4300	6502	SO:0001583	missense	4124				mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding	g.chr5:109200789T>G		CCDS34209.1	5q21.3	2013-09-20			ENSG00000112893	ENSG00000112893	3.2.1.114		6824	protein-coding gene	gene with protein product	"golgi integral membrane protein 7"	154582		MANA2		1757461, 15004235	Standard	NM_002372		Approved	GOLIM7	uc003kou.1	Q16706	OTTHUMG00000162834	ENST00000261483.4:c.3224T>G	5.37:g.109200789T>G	ENSP00000261483:p.Phe1075Cys					MAN2A1_ENST00000505313.1_3'UTR	p.F1075C	NM_002372.2	NP_002363.2	Q16706	MA2A1_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;2.17e-10)|Epithelial(69;1.37e-09)|COAD - Colon adenocarcinoma(37;0.141)	21	4276	+		all_cancers(142;8.66e-07)|all_epithelial(76;7.73e-09)|Prostate(80;0.000303)|Lung NSC(167;0.0186)|all_lung(232;0.0241)|Ovarian(225;0.0444)|Colorectal(57;0.0959)|Breast(839;0.244)	1075					Q16767	Missense_Mutation	SNP	ENST00000261483.4	37	c.3224T>G	CCDS34209.1	.	.	.	.	.	.	.	.	.	.	T	13.78	2.338413	0.41398	.	.	ENSG00000112893	ENST00000261483	T	0.79454	-1.27	5.53	4.35	0.52113	Glycosyl hydrolases 38, C-terminal (1);Glycoside hydrolase-type carbohydrate-binding (1);	0.055992	0.64402	D	0.000001	D	0.88265	0.6390	M	0.87456	2.885	0.52501	D	0.999951	D	0.76494	0.999	D	0.74674	0.984	D	0.88928	0.3371	9	.	.	.	-16.9903	12.1853	0.54234	0.1281:0.0:0.0:0.8719	.	1075	Q16706	MA2A1_HUMAN	C	1075	ENSP00000261483:F1075C	.	F	+	2	0	MAN2A1	109228688	1.000000	0.71417	0.289000	0.24876	0.030000	0.12068	4.152000	0.58111	1.003000	0.39130	0.528000	0.53228	TTT		0.453	MAN2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370680.1			5	56	0	0	0	1	0	5	56					G	109200789	T	G	109200789	3	3	125	1	0	0	0	0	1	0	0	0	9214	1841	64	5	3306	5	MAN2A1	5	109200789	Missense_Mutation	SNP	T	TCGA-EJ-A6RA-01A-11D-A33T-08		109200789	71714471	9	6566			1	18		2	2	13	T		1.007852e-05
MAN2A1	4124	broad.mit.edu	37	chr5	109200801	109200801	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaagggtttgattgtcggtTctctagcaaaggcacagggc	11	10	13	7	1	1	1	0	1	1	0	3	1	1	1	0	4	1	4	0	4	4	4			TCGA-EJ-A6RA-01A-11D-A33T-08	TCGA-EJ-A6RA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	456a9fb1-804b-413e-ab74-dd30d4e6954e	40ec64e3-ca43-4bac-8a1a-62f299e29f7c	g.chr5:109200801T>C	ENST00000261483.4	+	21	4288	c.3236T>C	c.(3235-3237)tTc>tCc	p.F1079S	MAN2A1_ENST00000505313.1_3'UTR	NM_002372.2	NP_002363.2	Q16706	MA2A1_HUMAN	mannosidase, alpha, class 2A, member 1	1079					cellular protein metabolic process (GO:0044267)|in utero embryonic development (GO:0001701)|liver development (GO:0001889)|lung alveolus development (GO:0048286)|mannose metabolic process (GO:0006013)|mitochondrion organization (GO:0007005)|N-glycan processing (GO:0006491)|positive regulation of neurogenesis (GO:0050769)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|respiratory gaseous exchange (GO:0007585)|retina morphogenesis in camera-type eye (GO:0060042)|vacuole organization (GO:0007033)	cis-Golgi network (GO:0005801)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)|hydrolase activity, hydrolyzing N-glycosyl compounds (GO:0016799)|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity (GO:0004572)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|endometrium(7)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_cancers(142;8.66e-07)|all_epithelial(76;7.73e-09)|Prostate(80;0.000303)|Lung NSC(167;0.0186)|all_lung(232;0.0241)|Ovarian(225;0.0444)|Colorectal(57;0.0959)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;2.17e-10)|Epithelial(69;1.37e-09)|COAD - Colon adenocarcinoma(37;0.141)		GATTGTCGGTTCTCTAGCAAA	0.463																																						ENST00000261483.4																			0				breast(2)|central_nervous_system(2)|endometrium(7)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	55						c.(3235-3237)tTc>tCc		mannosidase, alpha, class 2A, member 1							164	144	151					5																	109200801		2202	4300	6502	SO:0001583	missense	4124				mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding	g.chr5:109200801T>C		CCDS34209.1	5q21.3	2013-09-20			ENSG00000112893	ENSG00000112893	3.2.1.114		6824	protein-coding gene	gene with protein product	"golgi integral membrane protein 7"	154582		MANA2		1757461, 15004235	Standard	NM_002372		Approved	GOLIM7	uc003kou.1	Q16706	OTTHUMG00000162834	ENST00000261483.4:c.3236T>C	5.37:g.109200801T>C	ENSP00000261483:p.Phe1079Ser					MAN2A1_ENST00000505313.1_3'UTR	p.F1079S	NM_002372.2	NP_002363.2	Q16706	MA2A1_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;2.17e-10)|Epithelial(69;1.37e-09)|COAD - Colon adenocarcinoma(37;0.141)	21	4288	+		all_cancers(142;8.66e-07)|all_epithelial(76;7.73e-09)|Prostate(80;0.000303)|Lung NSC(167;0.0186)|all_lung(232;0.0241)|Ovarian(225;0.0444)|Colorectal(57;0.0959)|Breast(839;0.244)	1079					Q16767	Missense_Mutation	SNP	ENST00000261483.4	37	c.3236T>C	CCDS34209.1	.	.	.	.	.	.	.	.	.	.	T	14.93	2.682908	0.47991	.	.	ENSG00000112893	ENST00000261483	T	0.77620	-1.11	5.53	5.53	0.82687	Glycosyl hydrolases 38, C-terminal (1);Glycoside hydrolase-type carbohydrate-binding (1);	0.191337	0.46145	D	0.000317	T	0.75752	0.3892	L	0.61218	1.895	0.50171	D	0.999852	B	0.28128	0.201	B	0.29267	0.1	T	0.72330	-0.4326	9	.	.	.	-11.1991	15.9662	0.79974	0.0:0.0:0.0:1.0	.	1079	Q16706	MA2A1_HUMAN	S	1079	ENSP00000261483:F1079S	.	F	+	2	0	MAN2A1	109228700	1.000000	0.71417	0.756000	0.31282	0.389000	0.30415	4.162000	0.58177	2.223000	0.72356	0.528000	0.53228	TTC		0.463	MAN2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370680.1			4	52	0	0	0	1	0	4	52					C	109200801	T	C	109200801	3	2	125	1	0	0	0	0	1	0	0	0	9214	1783	62	4	3318	4	MAN2A1	5	109200801	Missense_Mutation	SNP	T	TCGA-EJ-A6RA-01A-11D-A33T-08	12	109200801	71714459	10	6567			1	18		2	2	13	T		1.007852e-05
MUT	4594	broad.mit.edu	37	chr6	49412360	49412360	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atatatcttcaccttgcccgAgatgcatccactgcaagagc	11	10	7	13	1	2	2	1	0	1	2	3	3	3	2	3	0	4	2	3	0	3	4			TCGA-EJ-A6RA-01A-11D-A33T-08	TCGA-EJ-A6RA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	456a9fb1-804b-413e-ab74-dd30d4e6954e	40ec64e3-ca43-4bac-8a1a-62f299e29f7c	g.chr6:49412360A>C	ENST00000274813.3	-	9	1795	c.1668T>G	c.(1666-1668)tcT>tcG	p.S556S		NM_000255.3	NP_000246.2	P22033	MUTA_HUMAN	methylmalonyl CoA mutase	556					cellular lipid metabolic process (GO:0044255)|cobalamin metabolic process (GO:0009235)|fatty acid beta-oxidation (GO:0006635)|homocysteine metabolic process (GO:0050667)|post-embryonic development (GO:0009791)|short-chain fatty acid catabolic process (GO:0019626)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	cobalamin binding (GO:0031419)|metal ion binding (GO:0046872)|methylmalonyl-CoA mutase activity (GO:0004494)|modified amino acid binding (GO:0072341)			endometrium(2)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	30	Lung NSC(77;0.0376)				Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	ACCTTGCCCGAGATGCATCCA	0.433																																						ENST00000274813.3																			0				endometrium(2)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	30						c.(1666-1668)tcT>tcG		methylmalonyl CoA mutase	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)						184	182	183					6																	49412360		2203	4300	6503	SO:0001819	synonymous_variant	4594				fatty acid beta-oxidation	mitochondrial matrix	cobalamin binding|metal ion binding|methylmalonyl-CoA mutase activity	g.chr6:49412360A>C		CCDS4924.1	6p21	2012-10-02	2010-04-30		ENSG00000146085	ENSG00000146085	5.4.99.2		7526	protein-coding gene	gene with protein product		609058	"methylmalonyl Coenzyme A mutase"			2907507, 9503014	Standard	NM_000255		Approved		uc003ozg.4	P22033	OTTHUMG00000014814	ENST00000274813.3:c.1668T>G	6.37:g.49412360A>C							p.S556S	NM_000255.3	NP_000246.2	P22033	MUTA_HUMAN			9	1795	-	Lung NSC(77;0.0376)		556					A8K953|Q5SYZ3|Q96B11|Q9UD64	Silent	SNP	ENST00000274813.3	37	c.1668T>G	CCDS4924.1																																																																																				0.433	MUT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040854.1			7	200	0	0	0	1	0	7	200					C	49412360	A	C	49412360	2	2	125	1	0	0	0	0	0	0	0	1	9991	291	11	5		5	MUT	6	49412360	Silent	SNP	A	TCGA-EJ-A6RA-01A-11D-A33T-08		49412360	121702707	11	6568											
LGSN	51557	broad.mit.edu	37	chr6	63990991	63990991	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcccatggcaaaactctaaaGgttgataactctggcattag	13	10	9	9	0	2	1	0	1	2	0	2	1	2	1	1	3	2	3	1	3	6	4	rs141217825	byFrequency	TCGA-EJ-A6RA-01A-11D-A33T-08	TCGA-EJ-A6RA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	456a9fb1-804b-413e-ab74-dd30d4e6954e	40ec64e3-ca43-4bac-8a1a-62f299e29f7c	g.chr6:63990991G>A	ENST00000370657.4	-	4	498	c.465C>T	c.(463-465)acC>acT	p.T155T	LGSN_ENST00000370658.5_Silent_p.T155T			Q5TDP6	LGSN_HUMAN	lengsin, lens protein with glutamine synthetase domain	155					glutamine biosynthetic process (GO:0006542)	plasma membrane (GO:0005886)	glutamate-ammonia ligase activity (GO:0004356)			NS(1)|endometrium(2)|large_intestine(5)|lung(16)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						AAACTCTAAAGGTTGATAACT	0.403													G|||	5	0.000998403	0.0038	0	5008	,	,		12920	0		0	False		,,,				2504	0					ENST00000370658.5																			0				NS(1)|endometrium(2)|large_intestine(5)|lung(16)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						c.(463-465)acC>acT		lengsin, lens protein with glutamine synthetase domain	L-Glutamic Acid(DB00142)	G	,	11,4395	17.9+/-39.9	0,11,2192	137	128	131		465,465	2.7	0.5	6	dbSNP_134	131	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	LGSN	NM_001143940.1,NM_016571.2	,	0,11,6492	AA,AG,GG		0.0,0.2497,0.0846	,	155/209,155/510	63990991	11,12995	2203	4300	6503	SO:0001819	synonymous_variant	51557				glutamine biosynthetic process		glutamate-ammonia ligase activity	g.chr6:63990991G>A	AF242388	CCDS4964.1, CCDS55027.1	6q12	2013-09-19	2008-09-19	2008-09-19	ENSG00000146166	ENSG00000146166			21016	protein-coding gene	gene with protein product		611470	"glutamate-ammonia ligase (glutamine synthetase) domain containing 1"	GLULD1		12107412	Standard	NM_016571		Approved	LGS	uc003peh.3	Q5TDP6	OTTHUMG00000014946	ENST00000370657.4:c.465C>T	6.37:g.63990991G>A						LGSN_ENST00000370657.4_Silent_p.T155T	p.T155T	NM_001143940.1|NM_016571.2	NP_001137412.1|NP_057655.2	Q5TDP6	LGSN_HUMAN			4	498	-			155					A1L421|Q0PVN9|Q0PVP0|Q9NYJ0	Silent	SNP	ENST00000370657.4	37	c.465C>T	CCDS4964.1																																																																																				0.403	LGSN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041076.2	NM_016571		6	93	0	0	0	1	0	6	93					A	63990991	G	A	63990991	2	1	125	1	0	0	0	0	0	0	0	1	8759	987	35	3		3	LGSN	6	63990991	Silent	SNP	G	TCGA-EJ-A6RA-01A-11D-A33T-08	14578631	63990991	107124076	12	6569											
BAZ1B	9031	broad.mit.edu	37	chr7	72891702	72891702	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctcctgaacatcagatctgcGcaagcagagccgcaccagct	11	6	9	15	2	2	3	1	1	1	2	3	3	3	3	3	0	5	4	3	0	2	0			TCGA-EJ-A6RA-01A-11D-A33T-08	TCGA-EJ-A6RA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	456a9fb1-804b-413e-ab74-dd30d4e6954e	40ec64e3-ca43-4bac-8a1a-62f299e29f7c	g.chr7:72891702G>A	ENST00000339594.4	-	7	2427	c.2089C>T	c.(2089-2091)Cgc>Tgc	p.R697C	BAZ1B_ENST00000404251.1_Missense_Mutation_p.R697C	NM_032408.3	NP_115784.1	Q9UIG0	BAZ1B_HUMAN	bromodomain adjacent to zinc finger domain, 1B	697					cellular response to DNA damage stimulus (GO:0006974)|chromatin assembly or disassembly (GO:0006333)|chromatin-mediated maintenance of transcription (GO:0048096)|double-strand break repair (GO:0006302)|heart morphogenesis (GO:0003007)|histone phosphorylation (GO:0016572)|peptidyl-tyrosine phosphorylation (GO:0018108)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	condensed chromosome (GO:0000793)|nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|histone kinase activity (GO:0035173)|lysine-acetylated histone binding (GO:0070577)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)|vitamin D receptor activator activity (GO:0071884)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(5)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Lung NSC(55;0.0659)|all_lung(88;0.152)				TCAGATCTGCGCAAGCAGAGC	0.463																																					Esophageal Squamous(112;1167 1561 21085 43672 48228)	ENST00000339594.4																			0				NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(5)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						c.(2089-2091)Cgc>Tgc		bromodomain adjacent to zinc finger domain, 1B							94	90	91					7																	72891702		2203	4300	6503	SO:0001583	missense	9031				ATP-dependent chromatin remodeling|chromatin-mediated maintenance of transcription|DNA replication-dependent nucleosome disassembly|double-strand break repair|heart morphogenesis|transcription, DNA-dependent	WINAC complex	ATP binding|chromatin binding|histone acetyl-lysine binding|histone kinase activity|non-membrane spanning protein tyrosine kinase activity|protein complex scaffold|vitamin D receptor activator activity|vitamin D receptor binding|zinc ion binding	g.chr7:72891702G>A	AF084479	CCDS5549.1	7q11.23	2013-01-28			ENSG00000009954	ENSG00000009954		"Zinc fingers, PHD-type"	961	protein-coding gene	gene with protein product	"Williams-Beuren syndrome chromosome region 9", "Williams-Beuren syndrome chromosome region 10", "transcription factor WSTF"	605681		WBSCR9, WBSCR10		9858827, 9828126	Standard	NM_032408		Approved	WSTF	uc003tyc.3	Q9UIG0	OTTHUMG00000023847	ENST00000339594.4:c.2089C>T	7.37:g.72891702G>A	ENSP00000342434:p.Arg697Cys					BAZ1B_ENST00000404251.1_Missense_Mutation_p.R697C	p.R697C	NM_032408.3	NP_115784.1	Q9UIG0	BAZ1B_HUMAN			7	2427	-		Lung NSC(55;0.0659)|all_lung(88;0.152)	697					B9EGK3|D3DXE9|O95039|O95247|O95277|Q6P1K4|Q86UJ6	Missense_Mutation	SNP	ENST00000339594.4	37	c.2089C>T	CCDS5549.1	.	.	.	.	.	.	.	.	.	.	G	19.09	3.760343	0.69763	.	.	ENSG00000009954	ENST00000339594;ENST00000404251	T;T	0.60548	0.18;0.18	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	T	0.72890	0.3517	L	0.54323	1.7	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.69416	-0.5151	10	0.39692	T	0.17	-17.793	18.9316	0.92568	0.0:0.0:1.0:0.0	.	697	Q9UIG0	BAZ1B_HUMAN	C	697	ENSP00000342434:R697C;ENSP00000385442:R697C	ENSP00000342434:R697C	R	-	1	0	BAZ1B	72529638	1.000000	0.71417	1.000000	0.80357	0.761000	0.43186	7.148000	0.77389	2.797000	0.96272	0.561000	0.74099	CGC		0.463	BAZ1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252123.4	NM_032408		9	71	0	0	0	1	0	9	71					A	72891702	G	A	72891702	3	1	125	1	0	0	0	0	1	0	0	0	1330	1087	38	1	2414	1	BAZ1B	7	72891702	Missense_Mutation	SNP	G	TCGA-EJ-A6RA-01A-11D-A33T-08		72891702	86246961	13	6570											
LYN	4067	broad.mit.edu	37	chr8	56860229	56860229	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ttgtacccctatgatggcatCcacccggacgacttgtcttt	7	13	8	13	2	1	1	0	1	1	0	2	3	2	2	4	2	1	2	4	2	2	5			TCGA-EJ-A6RA-01A-11D-A33T-08	TCGA-EJ-A6RA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	456a9fb1-804b-413e-ab74-dd30d4e6954e	40ec64e3-ca43-4bac-8a1a-62f299e29f7c	g.chr8:56860229C>A	ENST00000519728.1	+	4	527	c.231C>A	c.(229-231)atC>atA	p.I77I	LYN_ENST00000520220.2_Silent_p.I56I	NM_002350.3	NP_002341.1	P07948	LYN_HUMAN	LYN proto-oncogene, Src family tyrosine kinase	77	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				B cell homeostasis (GO:0001782)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to extracellular stimulus (GO:0031668)|cellular response to heat (GO:0034605)|cellular response to retinoic acid (GO:0071300)|cytokine secretion (GO:0050663)|dendritic cell differentiation (GO:0097028)|erythrocyte differentiation (GO:0030218)|Fc receptor mediated inhibitory signaling pathway (GO:0002774)|Fc receptor mediated stimulatory signaling pathway (GO:0002431)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|histamine secretion by mast cell (GO:0002553)|immune response-regulating cell surface receptor signaling pathway (GO:0002768)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|leukocyte migration (GO:0050900)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of cell proliferation (GO:0008285)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of immune response (GO:0050777)|negative regulation of intracellular signal transduction (GO:1902532)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of mast cell proliferation (GO:0070667)|negative regulation of myeloid leukocyte differentiation (GO:0002762)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of toll-like receptor 2 signaling pathway (GO:0034136)|negative regulation of toll-like receptor 4 signaling pathway (GO:0034144)|neuron projection development (GO:0031175)|oligodendrocyte development (GO:0014003)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of B cell receptor signaling pathway (GO:0050861)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cellular component movement (GO:0051272)|positive regulation of dendritic cell apoptotic process (GO:2000670)|positive regulation of Fc receptor mediated stimulatory signaling pathway (GO:0060369)|positive regulation of glial cell proliferation (GO:0060252)|positive regulation of mast cell proliferation (GO:0070668)|positive regulation of neuron projection development (GO:0010976)|positive regulation of oligodendrocyte progenitor proliferation (GO:0070447)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of stress-activated protein kinase signaling cascade (GO:0070304)|positive regulation of tyrosine phosphorylation of STAT protein (GO:0042531)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of B cell apoptotic process (GO:0002902)|regulation of B cell receptor signaling pathway (GO:0050855)|regulation of cell adhesion mediated by integrin (GO:0033628)|regulation of cytokine production (GO:0001817)|regulation of cytokine secretion (GO:0050707)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of erythrocyte differentiation (GO:0045646)|regulation of inflammatory response (GO:0050727)|regulation of mast cell activation (GO:0033003)|regulation of mast cell degranulation (GO:0043304)|regulation of monocyte chemotaxis (GO:0090025)|regulation of platelet aggregation (GO:0090330)|regulation of protein phosphorylation (GO:0001932)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|response to amino acid (GO:0043200)|response to axon injury (GO:0048678)|response to carbohydrate (GO:0009743)|response to drug (GO:0042493)|response to hormone (GO:0009725)|response to insulin (GO:0032868)|response to organic cyclic compound (GO:0014070)|response to sterol depletion (GO:0006991)|response to toxic substance (GO:0009636)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|T cell costimulation (GO:0031295)|tolerance induction to self antigen (GO:0002513)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integrin alpha2-beta1 complex (GO:0034666)|mast cell granule (GO:0042629)|membrane raft (GO:0045121)|mitochondrial crista (GO:0030061)|mitochondrial intermembrane space (GO:0005758)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|glycosphingolipid binding (GO:0043208)|ion channel binding (GO:0044325)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	22		all_lung(136;0.0555)|Lung NSC(129;0.0726)|all_epithelial(80;0.0772)	Epithelial(17;0.000834)|all cancers(17;0.00598)		Bosutinib(DB06616)|Ponatinib(DB08901)	ATGATGGCATCCACCCGGACG	0.498																																						ENST00000520220.2																			0				breast(4)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	22						c.(166-168)atC>atA		v-yes-1 Yamaguchi sarcoma viral related oncogene homolog							175	159	165					8																	56860229		2203	4300	6503	SO:0001819	synonymous_variant	4067				erythrocyte differentiation|interspecies interaction between organisms|leukocyte migration|platelet activation|positive regulation of cellular component movement|positive regulation of stress-activated protein kinase signaling cascade|positive regulation of tyrosine phosphorylation of STAT protein|response to DNA damage stimulus|T cell costimulation	cytosol|Golgi apparatus|membrane raft|nucleus|perinuclear region of cytoplasm	ATP binding|ion channel binding|non-membrane spanning protein tyrosine kinase activity|receptor signaling protein tyrosine kinase activity	g.chr8:56860229C>A	M16038	CCDS6162.1, CCDS47859.1	8q13	2014-06-25	2014-06-25		ENSG00000254087	ENSG00000254087		"SH2 domain containing"	6735	protein-coding gene	gene with protein product		165120	"v-yes-1 Yamaguchi sarcoma viral related oncogene homolog"			3561390	Standard	NM_002350		Approved	JTK8	uc003xsk.4	P07948	OTTHUMG00000044345	ENST00000519728.1:c.231C>A	8.37:g.56860229C>A						LYN_ENST00000519728.1_Silent_p.I77I	p.I56I	NM_001111097.2	NP_001104567.1	P07948	LYN_HUMAN	Epithelial(17;0.000834)|all cancers(17;0.00598)		4	442	+		all_lung(136;0.0555)|Lung NSC(129;0.0726)|all_epithelial(80;0.0772)	77					A0AVQ5	Silent	SNP	ENST00000519728.1	37	c.168C>A	CCDS6162.1																																																																																				0.498	LYN-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378155.1	NM_002350		7	123	1	0	0.00198382	1	0.00210781	7	123					A	56860229	C	A	56860229	2	1	125	1	0	0	0	0	0	0	0	1	9107	845	30	5		5	LYN	8	56860229	Silent	SNP	C	TCGA-EJ-A6RA-01A-11D-A33T-08		56860229	89503793	14	6571											
KIAA1429	25962	broad.mit.edu	37	chr8	95538760	95538760	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagtcttctctgctaaatggTcaccaagtcttttaatctct	10	16	5	10	0	5	0	1	0	4	0	7	0	5	0	1	1	1	1	1	1	5	4			TCGA-EJ-A6RA-01A-11D-A33T-08	TCGA-EJ-A6RA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	456a9fb1-804b-413e-ab74-dd30d4e6954e	40ec64e3-ca43-4bac-8a1a-62f299e29f7c	g.chr8:95538760T>C	ENST00000297591.5	-	8	1787	c.1712A>G	c.(1711-1713)gAc>gGc	p.D571G	KIAA1429_ENST00000421249.2_Missense_Mutation_p.D571G|KIAA1429_ENST00000437199.1_Missense_Mutation_p.D571G	NM_015496.4	NP_056311.2	Q69YN4	VIR_HUMAN	KIAA1429	571					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(16)|lung(28)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	66	Breast(36;3.29e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00185)			TGCTAAATGGTCACCAAGTCT	0.403																																						ENST00000297591.5																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(16)|lung(28)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	66						c.(1711-1713)gAc>gGc		KIAA1429							134	132	133					8																	95538760		2203	4300	6503	SO:0001583	missense	25962				mRNA processing|RNA splicing	nucleus		g.chr8:95538760T>C	AB037850	CCDS34923.1, CCDS47894.1	8q22.1	2008-11-25			ENSG00000164944	ENSG00000164944			24500	protein-coding gene	gene with protein product	"functional spliceosome-associated protein 121"					10718198	Standard	NM_015496		Approved	DKFZP434I116, fSAP121	uc003ygo.2	Q69YN4	OTTHUMG00000164426	ENST00000297591.5:c.1712A>G	8.37:g.95538760T>C	ENSP00000297591:p.Asp571Gly					KIAA1429_ENST00000437199.1_Missense_Mutation_p.D571G|KIAA1429_ENST00000421249.2_Missense_Mutation_p.D571G	p.D571G	NM_015496.4	NP_056311.2	Q69YN4	VIR_HUMAN	BRCA - Breast invasive adenocarcinoma(8;0.00185)		8	1787	-	Breast(36;3.29e-05)		571					Q2M1N0|Q6AHX9|Q6NT78|Q7Z6C7|Q8IXH4|Q9BTH4|Q9H9C9|Q9NWR3|Q9P2B8|Q9UFW1	Missense_Mutation	SNP	ENST00000297591.5	37	c.1712A>G	CCDS34923.1	.	.	.	.	.	.	.	.	.	.	T	19.25	3.791398	0.70452	.	.	ENSG00000164944	ENST00000297591;ENST00000437199;ENST00000421249	T;T;T	0.47177	0.85;0.85;0.85	5.95	5.95	0.96441	.	0.062105	0.64402	D	0.000003	T	0.38348	0.1037	N	0.24115	0.695	0.45662	D	0.99858	P;P	0.40476	0.718;0.718	B;B	0.39258	0.295;0.295	T	0.32693	-0.9897	10	0.54805	T	0.06	-15.4389	16.4069	0.83677	0.0:0.0:0.0:1.0	.	571;571	Q69YN4-4;Q69YN4	.;VIR_HUMAN	G	571	ENSP00000297591:D571G;ENSP00000395600:D571G;ENSP00000398390:D571G	ENSP00000297591:D571G	D	-	2	0	KIAA1429	95607936	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.721000	0.47260	2.272000	0.75746	0.460000	0.39030	GAC		0.403	KIAA1429-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378720.2	NM_015496		6	140	0	0	0	1	0	6	140					C	95538760	T	C	95538760	3	2	125	1	0	0	0	0	1	0	0	0	8231	1667	58	4	3848	4	KIAA1429	8	95538760	Missense_Mutation	SNP	T	TCGA-EJ-A6RA-01A-11D-A33T-08	38678531	95538760	50825262	15	6572											
AGAP8	119016	broad.mit.edu	37	chr10	51225502	51225502	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtcatccagctccagagatcGcacacgggaaaggcgggtgc	10	5	14	12	3	1	1	1	0	0	1	4	3	3	2	2	3	2	2	2	3	1	0			TCGA-EJ-A6RA-01A-11D-A33T-08	TCGA-EJ-A6RA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	456a9fb1-804b-413e-ab74-dd30d4e6954e	40ec64e3-ca43-4bac-8a1a-62f299e29f7c	g.chr10:51225502G>A	ENST00000425119.2	-	7	1605	c.1480C>T	c.(1480-1482)Cga>Tga	p.R494*	AGAP8_ENST00000602930.1_Nonsense_Mutation_p.R478*	NM_001077686.1|NM_001276344.1	NP_001071154.1|NP_001263273.1	Q5SRD3	AGAP8_HUMAN		494	Arf-GAP. {ECO:0000255|PROSITE- ProRule:PRU00288}.				regulation of ARF GTPase activity (GO:0032312)		ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|lung(2)|ovary(2)	6						TCCAGAGATCGCACACGGGAA	0.537																																						ENST00000602930.1																			0				breast(1)|endometrium(1)|lung(2)|ovary(2)	6						c.(1432-1434)Cga>Tga		ArfGAP with GTPase domain, ankyrin repeat and PH domain 8							75	79	78					10																	51225502		2189	4258	6447	SO:0001587	stop_gained	728404				regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding	g.chr10:51225502G>A																												ENST00000425119.2:c.1480C>T	10.37:g.51225502G>A	ENSP00000415452:p.Arg494*					AGAP8_ENST00000425119.2_Nonsense_Mutation_p.R494*	p.R478*	NM_001276343.1	NP_001263272.1	Q5SRD3	AGAP8_HUMAN			9	1981	-			494			Arf-GAP.			Nonsense_Mutation	SNP	ENST00000425119.2	37	c.1432C>T	CCDS41522.1	.	.	.	.	.	.	.	.	.	.	g	17.87	3.496079	0.64186	.	.	ENSG00000174194	ENST00000311652;ENST00000425119	.	.	.	.	.	.	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	6.8849	0.24193	1.0E-4:0.0:0.9999:0.0	.	.	.	.	X	270;494	.	ENSP00000309985:R270X	R	-	1	2	AGAP8	50895508	1.000000	0.71417	0.033000	0.17914	0.033000	0.12548	6.471000	0.73562	0.107000	0.17824	0.109000	0.15622	CGA		0.537	AGAP8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048022.2			5	220	0	0	0	1	0	5	220					A	51225502	G	A	51225502	4	1	125	1	0	0	0	0	0	1	0	0	374	1095	38	1	515	1	AGAP8	10	51225502	Nonsense_Mutation	SNP	G	TCGA-EJ-A6RA-01A-11D-A33T-08		51225502	84309245	16	6573											
KIF21A	55605	broad.mit.edu	37	chr12	39763969	39763969	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atagtcaaaagtaaaagcctTatctttccctaggaagacct	15	11	6	9	0	2	1	1	0	1	1	3	2	3	2	3	1	1	1	3	1	8	5			TCGA-EJ-A6RA-01A-11D-A33T-08	TCGA-EJ-A6RA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	456a9fb1-804b-413e-ab74-dd30d4e6954e	40ec64e3-ca43-4bac-8a1a-62f299e29f7c	g.chr12:39763969T>G	ENST00000361418.5	-	2	154	c.139A>C	c.(139-141)Aag>Cag	p.K47Q	KIF21A_ENST00000395670.3_Missense_Mutation_p.K47Q|KIF21A_ENST00000544797.2_Missense_Mutation_p.K47Q|KIF21A_ENST00000361961.3_Missense_Mutation_p.K47Q|KIF21A_ENST00000541463.2_Missense_Mutation_p.K47Q			Q7Z4S6	KI21A_HUMAN	kinesin family member 21A	47	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	86		Lung NSC(34;0.179)|all_lung(34;0.213)				GTAAAAGCCTTATCTTTCCCT	0.393																																						ENST00000395670.3																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	86						c.(139-141)Aag>Cag		kinesin family member 21A							123	120	121					12																	39763969		2203	4300	6503	SO:0001583	missense	55605				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr12:39763969T>G	AK000059	CCDS31773.1, CCDS53774.1, CCDS53775.1, CCDS53776.1	12q12	2013-01-10						"Kinesins", "WD repeat domain containing"	19349	protein-coding gene	gene with protein product		608283	"fibrosis of the extraocular muscles, congenital, 1"	FEOM1		10225949	Standard	NM_017641		Approved	FLJ20052	uc001rly.3	Q7Z4S6	OTTHUMG00000169335	ENST00000361418.5:c.139A>C	12.37:g.39763969T>G	ENSP00000354878:p.Lys47Gln					KIF21A_ENST00000541463.2_Missense_Mutation_p.K47Q|KIF21A_ENST00000361418.5_Missense_Mutation_p.K47Q|KIF21A_ENST00000544797.2_Missense_Mutation_p.K47Q|KIF21A_ENST00000361961.3_Missense_Mutation_p.K47Q	p.K47Q			Q7Z4S6	KI21A_HUMAN			2	558	-		Lung NSC(34;0.179)|all_lung(34;0.213)	47			Kinesin-motor.		A8MX28|B0I1R9|B9EGE4|F5H0C3|F5H219|Q2UVF1|Q6UKL9|Q7Z668|Q86WZ5|Q8IVZ8|Q9C0F5|Q9NXU4|Q9Y590	Missense_Mutation	SNP	ENST00000361418.5	37	c.139A>C	CCDS53776.1	.	.	.	.	.	.	.	.	.	.	T	23.7	4.445287	0.83993	.	.	ENSG00000139116	ENST00000361961;ENST00000395670;ENST00000341813;ENST00000544797;ENST00000361418;ENST00000541463	T;T;T;T;T	0.76186	-1.0;-1.0;-1.0;-1.0;-1.0	5.47	5.47	0.80525	Kinesin, motor domain (4);	0.000000	0.52532	D	0.000066	D	0.83538	0.5276	L	0.53561	1.675	0.58432	D	0.999992	P;D;D;D;D	0.89917	0.829;0.999;0.988;1.0;0.963	P;D;D;D;P	0.91635	0.499;0.997;0.92;0.999;0.747	D	0.85291	0.1067	10	0.87932	D	0	.	15.8762	0.79166	0.0:0.0:0.0:1.0	.	47;47;47;47;47	F5H219;B9EGE4;F5H0C3;Q7Z4S6;Q7Z4S6-2	.;.;.;KI21A_HUMAN;.	Q	47	ENSP00000354851:K47Q;ENSP00000379029:K47Q;ENSP00000445606:K47Q;ENSP00000354878:K47Q;ENSP00000438075:K47Q	ENSP00000344501:K47Q	K	-	1	0	KIF21A	38050236	1.000000	0.71417	0.989000	0.46669	0.967000	0.64934	7.757000	0.85209	2.206000	0.71126	0.528000	0.53228	AAG		0.393	KIF21A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403581.1	NM_017641		8	96	0	0	0	1	0	8	96					G	39763969	T	G	39763969	3	3	125	1	0	0	0	0	1	0	0	0	8288	1763	61	5	5033	5	KIF21A	12	39763969	Missense_Mutation	SNP	T	TCGA-EJ-A6RA-01A-11D-A33T-08		39763969	94087926	17	6574											
ALDH2	217	broad.mit.edu	37	chr12	112221026	112221026	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gctgggctcaccttggcgccGcatggacgcatcacacaggg	7	6	14	14	3	2	0	2	0	0	0	2	1	2	1	2	4	0	4	2	4	0	1			TCGA-EJ-A6RA-01A-11D-A33T-08	TCGA-EJ-A6RA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	456a9fb1-804b-413e-ab74-dd30d4e6954e	40ec64e3-ca43-4bac-8a1a-62f299e29f7c	g.chr12:112221026G>A	ENST00000261733.2	+	3	345	c.284G>A	c.(283-285)cGc>cAc	p.R95H	ALDH2_ENST00000416293.3_Intron|RP11-162P23.2_ENST00000546840.2_Missense_Mutation_p.A92T	NM_000690.3	NP_000681.2	P05091	ALDH2_HUMAN	aldehyde dehydrogenase 2 family (mitochondrial)	95					alcohol metabolic process (GO:0006066)|carbohydrate metabolic process (GO:0005975)|ethanol catabolic process (GO:0006068)|ethanol oxidation (GO:0006069)|neurotransmitter biosynthetic process (GO:0042136)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|xenobiotic metabolic process (GO:0006805)	extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)	aldehyde dehydrogenase (NAD) activity (GO:0004029)|aldehyde dehydrogenase [NAD(P)+] activity (GO:0004030)|electron carrier activity (GO:0009055)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(6)|ovary(2)|prostate(1)|skin(2)|stomach(1)	22					Amyl Nitrite(DB01612)|Benzyl alcohol(DB06770)|Disulfiram(DB00822)|Guanidine(DB00536)|Nitric Oxide(DB00435)|Nitroglycerin(DB00727)	CCTTGGCGCCGCATGGACGCA	0.637			T	HMGA2	leiomyoma																																	ENST00000261733.2				Dom	yes		12	12q24.2	217	T	aldehyde dehydrogenase 2 family (mitochondrial)			M	HMGA2		leiomyoma		0				NS(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(6)|ovary(2)|prostate(1)|skin(2)|stomach(1)	22						c.(283-285)cGc>cAc		aldehyde dehydrogenase 2 family (mitochondrial)	Disulfiram(DB00822)|Guanidine(DB00536)|NADH(DB00157)|Nitroglycerin(DB00727)						67	78	74					12																	112221026		2203	4299	6502	SO:0001583	missense	217				carbohydrate metabolic process|ethanol oxidation|neurotransmitter biosynthetic process|xenobiotic metabolic process	mitochondrial matrix	aldehyde dehydrogenase|aldehyde dehydrogenase (NAD) activity|electron carrier activity	g.chr12:112221026G>A	M26760	CCDS9155.1, CCDS55885.1	12q24.12	2007-12-14				ENSG00000111275	1.2.1.3	"Aldehyde dehydrogenases"	404	protein-coding gene	gene with protein product		100650				4015823, 2987944	Standard	NM_000690		Approved		uc001tst.3	P05091	OTTHUMG00000169603	ENST00000261733.2:c.284G>A	12.37:g.112221026G>A	ENSP00000261733:p.Arg95His					ALDH2_ENST00000416293.3_Intron|RP11-162P23.2_ENST00000546840.2_Missense_Mutation_p.A92T	p.R95H	NM_000690.3	NP_000681.2	P05091	ALDH2_HUMAN			3	345	+			95					B4DW54|E7EUE5|Q03639|Q6IB13|Q6IV71	Missense_Mutation	SNP	ENST00000261733.2	37	c.284G>A	CCDS9155.1	.	.	.	.	.	.	.	.	.	.	g	25.1	4.603686	0.87157	.	.	ENSG00000257767;ENSG00000111275;ENSG00000111275	ENST00000546840;ENST00000261733;ENST00000553044	T	0.76578	-1.03	5.57	3.41	0.39046	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, N-terminal (1);Aldehyde/histidinol dehydrogenase (1);	0.101452	0.64402	D	0.000004	T	0.68851	0.3046	L	0.57536	1.79	0.80722	D	1	P;B	0.46912	0.886;0.014	B;B	0.32533	0.147;0.015	T	0.73827	-0.3860	10	0.54805	T	0.06	.	13.4074	0.60922	0.1482:0.0:0.8518:0.0	.	95;95	F8VXI5;P05091	.;ALDH2_HUMAN	H	76;95;95	ENSP00000261733:R95H	ENSP00000261733:R95H	R	+	2	0	ALDH2;RP11-162P23.2	110705409	1.000000	0.71417	1.000000	0.80357	0.883000	0.51084	7.595000	0.82710	1.352000	0.45808	0.651000	0.88453	CGC		0.637	ALDH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405008.1	NM_000690		4	169	0	0	0	1	0	4	169					A	112221026	G	A	112221026	3	1	125	1	0	0	0	0	1	0	0	0	496	1087	38	1	294	1	ALDH2	12	112221026	Missense_Mutation	SNP	G	TCGA-EJ-A6RA-01A-11D-A33T-08	72457057	112221026	21630869	18	6575											
DTX1	1840	broad.mit.edu	37	chr12	113531851	113531851	+	Frame_Shift_Del	DEL	C	C	-																															gtgtccctgcaggtaagaatCccgaggatgtggttcgaaga																										TCGA-EJ-A6RA-01A-11D-A33T-08	TCGA-EJ-A6RA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	456a9fb1-804b-413e-ab74-dd30d4e6954e	40ec64e3-ca43-4bac-8a1a-62f299e29f7c	g.chr12:113531851delC	ENST00000257600.3	+	5	1677	c.1174delC	c.(1174-1176)cccfs	p.P392fs	DTX1_ENST00000547974.1_3'UTR	NM_004416.2	NP_004407.2	Q86Y01	DTX1_HUMAN	deltex 1, E3 ubiquitin ligase	392					cell surface receptor signaling pathway (GO:0007166)|glial cell differentiation (GO:0010001)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of T cell differentiation (GO:0045581)|Notch signaling pathway (GO:0007219)|protein ubiquitination (GO:0016567)|regulation of Notch signaling pathway (GO:0008593)|regulation of RNA biosynthetic process (GO:2001141)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ligase activity (GO:0016874)|Notch binding (GO:0005112)|transcription coactivator activity (GO:0003713)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.P392A(1)		central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	32						AGGTAAGAATCCCGAGGATGT	0.622																																						ENST00000257600.3																			1	Substitution - Missense(1)	p.P392A(1)	kidney(1)	central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	32						c.(1174-1176)ccfs		deltex homolog 1 (Drosophila)							29	25	27					12																	113531851		2198	4293	6491	SO:0001589	frameshift_variant	1840				negative regulation of neuron differentiation|Notch signaling pathway|regulation of Notch signaling pathway|transcription from RNA polymerase II promoter	cytoplasm|nucleus	Notch binding|SH3 domain binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding	g.chr12:113531851delC	AF053700	CCDS9164.1	12q24	2014-01-28	2014-01-28			ENSG00000135144			3060	protein-coding gene	gene with protein product		602582	"deltex homolog 1 (Drosophila)"			9590294, 12670957	Standard	NM_004416		Approved	hDx-1	uc001tuk.1	Q86Y01	OTTHUMG00000169610	ENST00000257600.3:c.1174delC	12.37:g.113531851delC	ENSP00000257600:p.Pro392fs					DTX1_ENST00000547974.1_3'UTR	p.P392fs	NM_004416.2	NP_004407.2	Q86Y01	DTX1_HUMAN			5	1677	+			392					O60630|Q9BS04	Frame_Shift_Del	DEL	ENST00000257600.3	37	c.1174delC	CCDS9164.1																																																																																				0.622	DTX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405045.2			2	4						2	4	---	---	---	---	-	113531851	C	-	113531851	7	5	125	1	0	1	0	1	0	0	0	0	4793	855	30	0	1192	0	DTX1	12	113531851	Frame_Shift_Del	DEL	C	TCGA-EJ-A6RA-01A-11D-A33T-08	1310825	113531851	20320044	19	6576											
PCDH9	5101	broad.mit.edu	37	chr13	67801398	67801398	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttgccattcacatctgtgTccttatctgaaactgtaatt	9	17	5	10	0	3	1	1	1	2	0	4	1	4	1	2	0	2	1	2	0	3	5			TCGA-EJ-A6RA-01A-11D-A33T-08	TCGA-EJ-A6RA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	456a9fb1-804b-413e-ab74-dd30d4e6954e	40ec64e3-ca43-4bac-8a1a-62f299e29f7c	g.chr13:67801398T>C	ENST00000377865.2	-	1	1309	c.1175A>G	c.(1174-1176)gAc>gGc	p.D392G	PCDH9_ENST00000456367.1_Missense_Mutation_p.D392G|PCDH9_ENST00000377861.3_Missense_Mutation_p.D392G|PCDH9_ENST00000544246.1_Missense_Mutation_p.D392G|PCDH9_ENST00000328454.5_Missense_Mutation_p.D392G			Q9HC56	PCDH9_HUMAN	protocadherin 9	392	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				forebrain development (GO:0030900)|homophilic cell adhesion (GO:0007156)	cell-cell contact zone (GO:0044291)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		CACATCTGTGTCCTTATCTGA	0.383																																						ENST00000544246.1																			0				breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103						c.(1174-1176)gAc>gGc		protocadherin 9							118	114	115					13																	67801398		2203	4300	6503	SO:0001583	missense	5101				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr13:67801398T>C	AF169692	CCDS9443.1, CCDS9444.1	13q21.32	2010-02-22			ENSG00000184226	ENSG00000184226		"Cadherins / Protocadherins : Non-clustered"	8661	protein-coding gene	gene with protein product		603581				9787079	Standard	NM_020403		Approved		uc001vik.3	Q9HC56	OTTHUMG00000017040	ENST00000377865.2:c.1175A>G	13.37:g.67801398T>C	ENSP00000367096:p.Asp392Gly					PCDH9_ENST00000456367.1_Missense_Mutation_p.D392G|PCDH9_ENST00000377861.3_Missense_Mutation_p.D392G|PCDH9_ENST00000377865.2_Missense_Mutation_p.D392G|PCDH9_ENST00000328454.5_Missense_Mutation_p.D392G	p.D392G	NM_203487.2	NP_982354.1	Q9HC56	PCDH9_HUMAN		GBM - Glioblastoma multiforme(99;0.00819)	2	1866	-		Hepatocellular(98;0.0906)|Breast(118;0.107)	392			Cadherin 4.		A2A6U1|Q5VT83|Q7Z3U0|Q8N3K7	Missense_Mutation	SNP	ENST00000377865.2	37	c.1175A>G	CCDS9444.1	.	.	.	.	.	.	.	.	.	.	T	15.99	2.996635	0.54147	.	.	ENSG00000184226	ENST00000544246;ENST00000377865;ENST00000456367;ENST00000328454;ENST00000377861	T;T;T;T;T	0.74632	-0.86;-0.86;-0.86;-0.86;-0.86	6.17	6.17	0.99709	Cadherin (4);Cadherin-like (1);	0.000000	0.85682	D	0.000000	D	0.90896	0.7139	H	0.96333	3.805	0.80722	D	1	D;D;D;D	0.89917	0.972;1.0;1.0;1.0	P;D;D;D	0.97110	0.883;1.0;0.999;1.0	D	0.93490	0.6835	10	0.87932	D	0	.	16.8222	0.85835	0.0:0.0:0.0:1.0	.	392;392;392;392	B7ZM79;Q5VT82;Q9HC56-2;Q9HC56	.;.;.;PCDH9_HUMAN	G	392	ENSP00000442186:D392G;ENSP00000367096:D392G;ENSP00000401699:D392G;ENSP00000332060:D392G;ENSP00000367092:D392G	ENSP00000332060:D392G	D	-	2	0	PCDH9	66699399	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.040000	0.89188	2.371000	0.80710	0.533000	0.62120	GAC		0.383	PCDH9-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276387.1	NM_203487		5	138	0	0	0	1	0	5	138					C	67801398	T	C	67801398	3	2	125	1	0	0	0	0	1	0	0	0	11518	1667	58	4	2554	4	PCDH9	13	67801398	Missense_Mutation	SNP	T	TCGA-EJ-A6RA-01A-11D-A33T-08		67801398	47368480	20	6577											
INO80	54617	broad.mit.edu	37	chr15	41377751	41377751	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aggaaagttcttcatctcttCgtctttttttcttcactttt	6	22	4	9	1	6	0	2	0	4	0	8	1	6	1	0	1	0	1	0	1	1	9			TCGA-EJ-A6RA-01A-11D-A33T-08	TCGA-EJ-A6RA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	456a9fb1-804b-413e-ab74-dd30d4e6954e	40ec64e3-ca43-4bac-8a1a-62f299e29f7c	g.chr15:41377751C>T	ENST00000361937.3	-	7	1113	c.689G>A	c.(688-690)cGa>cAa	p.R230Q	INO80_ENST00000401393.3_Missense_Mutation_p.R230Q			Q9ULG1	INO80_HUMAN	INO80 complex subunit	230	Assembles INO80 complex module consisting of conserved components ACTR8, ACTL6A and YY1.|Assembles INO80 complex module with putative regulatory components INO80E, INO80F, UCHL5, NFRKB, MCRS1 and IN80D.				ATP catabolic process (GO:0006200)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|chromatin remodeling (GO:0006338)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|mitotic sister chromatid segregation (GO:0000070)|positive regulation of cell growth (GO:0030307)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of G1/S transition of mitotic cell cycle (GO:2000045)|spindle assembly (GO:0051225)|UV-damage excision repair (GO:0070914)	Ino80 complex (GO:0031011)|microtubule (GO:0005874)|nucleus (GO:0005634)	alpha-tubulin binding (GO:0043014)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)			NS(1)|breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						TTCATCTCTTCGTCTTTTTTT	0.448																																						ENST00000361937.3																			0				NS(1)|breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						c.(688-690)cGa>cAa		INO80 complex subunit							100	98	99					15																	41377751		2203	4300	6503	SO:0001583	missense	54617				cell division|cellular response to ionizing radiation|cellular response to UV|chromatin remodeling|double-strand break repair via homologous recombination|mitotic sister chromatid segregation|positive regulation of cell growth|positive regulation of DNA replication involved in S phase|positive regulation of transcription from RNA polymerase II promoter|regulation of G1/S transition of mitotic cell cycle|spindle assembly|UV-damage excision repair	Ino80 complex|microtubule	actin binding|alpha-tubulin binding|ATP binding|ATPase activity|DNA binding|DNA helicase activity	g.chr15:41377751C>T	AB033085	CCDS10071.1	15q15.1	2013-08-21	2013-08-21	2008-08-07	ENSG00000128908	ENSG00000128908	3.6.1.3	"INO80 complex subunits"	26956	protein-coding gene	gene with protein product	"INO80 complex subunit A"	610169	"INO80 complex homolog 1 (S. cerevisiae)", "INO80 homolog (S. cerevisiae)"	INOC1		16298340, 16230350, 20237820	Standard	NM_017553		Approved	KIAA1259, Ino80, hINO80, INO80A	uc001zni.3	Q9ULG1	OTTHUMG00000130209	ENST00000361937.3:c.689G>A	15.37:g.41377751C>T	ENSP00000355205:p.Arg230Gln					INO80_ENST00000401393.3_Missense_Mutation_p.R230Q	p.R230Q			Q9ULG1	INO80_HUMAN			7	1113	-			230			Assembles INO80 complex module consisting of conserved components ACTR8, ACTL6A and YY1.|Assembles INO80 complex module with putative regulatory components INO80E, INO80F, UCHL5, NFRKB, MCRS1 and IN80D.		A6H8X4|Q9NTG6	Missense_Mutation	SNP	ENST00000361937.3	37	c.689G>A	CCDS10071.1	.	.	.	.	.	.	.	.	.	.	C	18.34	3.602252	0.66445	.	.	ENSG00000128908	ENST00000361937;ENST00000401393	D;D	0.90900	-2.75;-2.75	5.82	5.82	0.92795	.	0.058496	0.64402	D	0.000002	T	0.80518	0.4638	N	0.14661	0.345	0.45791	D	0.998674	P	0.43352	0.804	B	0.28011	0.085	T	0.80204	-0.1479	10	0.19590	T	0.45	.	20.1143	0.97922	0.0:1.0:0.0:0.0	.	230	Q9ULG1	INO80_HUMAN	Q	230	ENSP00000355205:R230Q;ENSP00000384686:R230Q	ENSP00000355205:R230Q	R	-	2	0	INO80	39165043	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.667000	0.68067	2.765000	0.95021	0.650000	0.86243	CGA		0.448	INO80-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252527.2	NM_017553		3	58	0	0	0	1	0	3	58					T	41377751	C	T	41377751	3	4	125	1	0	0	0	0	1	0	0	0	7746	884	31	2	4101	2	INO80	15	41377751	Missense_Mutation	SNP	C	TCGA-EJ-A6RA-01A-11D-A33T-08		41377751	61153641	21	6578											
WDR76	79968	broad.mit.edu	37	chr15	44150892	44150892	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tactcatatttatgatgcaaGgcgattgaattccaggagaa	14	12	9	6	1	1	3	1	2	0	1	2	5	2	3	1	2	2	1	1	2	6	6			TCGA-EJ-A6RA-01A-11D-A33T-08	TCGA-EJ-A6RA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	456a9fb1-804b-413e-ab74-dd30d4e6954e	40ec64e3-ca43-4bac-8a1a-62f299e29f7c	g.chr15:44150892G>A	ENST00000263795.6	+	11	1503	c.1433G>A	c.(1432-1434)aGg>aAg	p.R478K	WDR76_ENST00000381246.2_Missense_Mutation_p.R414K|WDR76_ENST00000478130.1_3'UTR	NM_001167941.1|NM_024908.3	NP_001161413.1|NP_079184.2	Q9H967	WDR76_HUMAN	WD repeat domain 76	478										breast(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(2)	20		all_cancers(109;3.26e-11)|all_epithelial(112;4.82e-09)|Lung NSC(122;1.61e-06)|all_lung(180;1.5e-05)|Melanoma(134;0.0417)		all cancers(107;3.78e-21)|GBM - Glioblastoma multiforme(94;5.04e-07)		TATGATGCAAGGCGATTGAAT	0.388																																						ENST00000263795.6																			0				breast(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(2)	20						c.(1432-1434)aGg>aAg		WD repeat domain 76							154	149	151					15																	44150892		2198	4298	6496	SO:0001583	missense	79968							g.chr15:44150892G>A	AK023035	CCDS10106.1, CCDS53938.1	15q15.3	2013-01-09			ENSG00000092470	ENSG00000092470		"WD repeat domain containing"	25773	protein-coding gene	gene with protein product						12860291	Standard	NM_024908		Approved	FLJ12973	uc001zti.2	Q9H967	OTTHUMG00000060143	ENST00000263795.6:c.1433G>A	15.37:g.44150892G>A	ENSP00000263795:p.Arg478Lys					WDR76_ENST00000478130.1_3'UTR|WDR76_ENST00000381246.2_Missense_Mutation_p.R414K	p.R478K	NM_001167941.1|NM_024908.3	NP_001161413.1|NP_079184.2	Q9H967	WDR76_HUMAN		all cancers(107;3.78e-21)|GBM - Glioblastoma multiforme(94;5.04e-07)	11	1503	+		all_cancers(109;3.26e-11)|all_epithelial(112;4.82e-09)|Lung NSC(122;1.61e-06)|all_lung(180;1.5e-05)|Melanoma(134;0.0417)	478					A0MNP5|Q05CI4	Missense_Mutation	SNP	ENST00000263795.6	37	c.1433G>A	CCDS10106.1	.	.	.	.	.	.	.	.	.	.	G	26.3	4.724563	0.89298	.	.	ENSG00000092470	ENST00000263795;ENST00000381246	T;T	0.69175	-0.38;-0.38	5.91	5.91	0.95273	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.84361	0.5455	M	0.87269	2.87	0.52501	D	0.999953	D	0.71674	0.998	D	0.68943	0.961	D	0.85916	0.1443	10	0.66056	D	0.02	-9.8978	18.8584	0.92262	0.0:0.0:1.0:0.0	.	478	Q9H967	WDR76_HUMAN	K	478;414	ENSP00000263795:R478K;ENSP00000370645:R414K	ENSP00000263795:R478K	R	+	2	0	WDR76	41938184	1.000000	0.71417	0.971000	0.41717	0.553000	0.35397	7.961000	0.87903	2.804000	0.96469	0.462000	0.41574	AGG		0.388	WDR76-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000133482.2	NM_024908		4	79	0	0	0	1	0	4	79					A	44150892	G	A	44150892	3	1	125	1	0	0	0	0	1	0	0	0	17323	1000	35	3	1475	3	WDR76	15	44150892	Missense_Mutation	SNP	G	TCGA-EJ-A6RA-01A-11D-A33T-08	2773141	44150892	58380500	22	6579											
ZNF768	79724	broad.mit.edu	37	chr16	30536940	30536940	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cggggttcagaagcatctccGcaccttcctggaatttggaa	9	10	11	11	2	2	1	1	0	1	1	4	3	3	3	3	4	1	3	3	4	3	3			TCGA-EJ-A6RA-01A-11D-A33T-08	TCGA-EJ-A6RA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	456a9fb1-804b-413e-ab74-dd30d4e6954e	40ec64e3-ca43-4bac-8a1a-62f299e29f7c	g.chr16:30536940G>A	ENST00000380412.5	-	2	696	c.521C>T	c.(520-522)gCg>gTg	p.A174V	ZNF768_ENST00000562803.1_Missense_Mutation_p.A143V	NM_024671.3	NP_078947.3	Q9H5H4	ZN768_HUMAN	zinc finger protein 768	174					regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	DNA-directed RNA polymerase II, core complex (GO:0005665)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|prostate(1)	15						AAGCATCTCCGCACCTTCCTG	0.498																																						ENST00000380412.5																			0				endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|prostate(1)	15						c.(520-522)gCg>gTg		zinc finger protein 768							115	121	119					16																	30536940		2197	4300	6497	SO:0001583	missense	79724				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	DNA-directed RNA polymerase II, core complex	DNA binding|zinc ion binding	g.chr16:30536940G>A	BC013760	CCDS10681.2	16p11.2	2013-01-08			ENSG00000169957	ENSG00000169957		"Zinc fingers, C2H2-type"	26273	protein-coding gene	gene with protein product						12477932	Standard	NM_024671		Approved	FLJ23436	uc002dyk.4	Q9H5H4	OTTHUMG00000132392	ENST00000380412.5:c.521C>T	16.37:g.30536940G>A	ENSP00000369777:p.Ala174Val					ZNF768_ENST00000562803.1_Missense_Mutation_p.A143V	p.A174V	NM_024671.3	NP_078947.3	Q9H5H4	ZN768_HUMAN			2	696	-			174					Q569L7|Q96CX4	Missense_Mutation	SNP	ENST00000380412.5	37	c.521C>T	CCDS10681.2	.	.	.	.	.	.	.	.	.	.	G	12.22	1.872270	0.33069	.	.	ENSG00000169957	ENST00000380412;ENST00000538507	T	0.06768	3.26	5.06	3.09	0.35607	.	0.316995	0.23030	N	0.052760	T	0.04048	0.0113	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.37888	-0.9686	10	0.40728	T	0.16	0.0028	6.5279	0.22310	0.084:0.0:0.4832:0.4328	.	174	Q9H5H4	ZN768_HUMAN	V	174;143	ENSP00000369777:A174V	ENSP00000369777:A174V	A	-	2	0	ZNF768	30444441	0.098000	0.21812	0.975000	0.42487	0.543000	0.35085	1.619000	0.36965	0.716000	0.32124	-0.268000	0.10319	GCG		0.498	ZNF768-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255522.2	NM_024671		4	208	0	0	0	1	0	4	208					A	30536940	G	A	30536940	3	1	125	1	0	0	0	0	1	0	0	0	18138	1087	38	1	1105	1	ZNF768	16	30536940	Missense_Mutation	SNP	G	TCGA-EJ-A6RA-01A-11D-A33T-08		30536940	59817813	23	6580											
CALR	811	broad.mit.edu	37	chr19	13051093	13051093	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acctgtacacactgattgtgCggccagacaacacctatgag	12	8	9	12	1	0	3	0	2	0	1	0	3	0	3	3	1	3	1	3	1	3	3			TCGA-EJ-A6RA-01A-11D-A33T-08	TCGA-EJ-A6RA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	456a9fb1-804b-413e-ab74-dd30d4e6954e	40ec64e3-ca43-4bac-8a1a-62f299e29f7c	g.chr19:13051093C>T	ENST00000316448.5	+	5	602	c.529C>T	c.(529-531)Cgg>Tgg	p.R177W		NM_004343.3	NP_004334.1	P27797	CALR_HUMAN	calreticulin	177	N-domain.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cardiac muscle cell differentiation (GO:0055007)|cell cycle arrest (GO:0007050)|cellular calcium ion homeostasis (GO:0006874)|cellular protein metabolic process (GO:0044267)|cellular response to lithium ion (GO:0071285)|cellular senescence (GO:0090398)|chaperone-mediated protein folding (GO:0061077)|cortical actin cytoskeleton organization (GO:0030866)|endoplasmic reticulum unfolded protein response (GO:0030968)|glucocorticoid receptor signaling pathway (GO:0042921)|negative regulation of intracellular steroid hormone receptor signaling pathway (GO:0033144)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of translation (GO:0017148)|peptide antigen assembly with MHC class I protein complex (GO:0002502)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell proliferation (GO:0008284)|positive regulation of dendritic cell chemotaxis (GO:2000510)|positive regulation of DNA replication (GO:0045740)|positive regulation of gene expression (GO:0010628)|positive regulation of phagocytosis (GO:0050766)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|post-translational protein modification (GO:0043687)|protein export from nucleus (GO:0006611)|protein folding (GO:0006457)|protein localization to nucleus (GO:0034504)|protein maturation by protein folding (GO:0022417)|protein N-linked glycosylation via asparagine (GO:0018279)|protein stabilization (GO:0050821)|regulation of apoptotic process (GO:0042981)|regulation of meiosis (GO:0040020)|regulation of transcription, DNA-templated (GO:0006355)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to testosterone (GO:0033574)|sequestering of calcium ion (GO:0051208)|spermatogenesis (GO:0007283)	acrosomal vesicle (GO:0001669)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|intracellular (GO:0005622)|membrane (GO:0016020)|MHC class I peptide loading complex (GO:0042824)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|polysome (GO:0005844)|proteinaceous extracellular matrix (GO:0005578)|sarcoplasmic reticulum (GO:0016529)	androgen receptor binding (GO:0050681)|calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|chaperone binding (GO:0051087)|complement component C1q binding (GO:0001849)|DNA binding (GO:0003677)|glycoprotein binding (GO:0001948)|hormone binding (GO:0042562)|integrin binding (GO:0005178)|iron ion binding (GO:0005506)|mRNA binding (GO:0003729)|peptide binding (GO:0042277)|poly(A) RNA binding (GO:0044822)|protein binding involved in protein folding (GO:0044183)|ubiquitin protein ligase binding (GO:0031625)|unfolded protein binding (GO:0051082)|zinc ion binding (GO:0008270)			kidney(1)|large_intestine(3)|lung(5)|ovary(1)	10					Antihemophilic Factor(DB00025)|Melatonin(DB01065)|Tenecteplase(DB00031)	ACTGATTGTGCGGCCAGACAA	0.532																																						ENST00000316448.5																			0				kidney(1)|large_intestine(3)|lung(5)|ovary(1)	10						c.(529-531)Cgg>Tgg		calreticulin	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Reteplase(DB00015)|Tenecteplase(DB00031)						113	122	119					19																	13051093		2203	4300	6503	SO:0001583	missense	811				cell cycle arrest|cellular senescence|glucocorticoid receptor signaling pathway|negative regulation of neuron differentiation|negative regulation of retinoic acid receptor signaling pathway|negative regulation of steroid hormone receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative regulation of translation|peptide antigen assembly with MHC class I protein complex|positive regulation of cell cycle|positive regulation of cell proliferation|positive regulation of DNA replication|positive regulation of phagocytosis|post-translational protein modification|protein export from nucleus|protein maturation by protein folding|protein N-linked glycosylation via asparagine|protein stabilization|regulation of apoptosis|sequestering of calcium ion	cytosol|endoplasmic reticulum lumen|extracellular space|MHC class I peptide loading complex|nucleus|perinuclear region of cytoplasm|polysome|proteinaceous extracellular matrix	androgen receptor binding|calcium ion binding|chaperone binding|complement component C1q binding|DNA binding|integrin binding|mRNA binding|protein binding involved in protein folding|sugar binding|ubiquitin protein ligase binding|unfolded protein binding|zinc ion binding	g.chr19:13051093C>T	M84739	CCDS12288.1	19p13.3-p13.2	2014-09-17				ENSG00000179218			1455	protein-coding gene	gene with protein product	"Sicca syndrome antigen A (autoantigen Ro; calreticulin)", "autoantigen Ro"	109091				2365822	Standard	NM_004343		Approved	RO, SSA, cC1qR, CRT, FLJ26680	uc002mvu.2	P27797		ENST00000316448.5:c.529C>T	19.37:g.13051093C>T	ENSP00000320866:p.Arg177Trp						p.R177W	NM_004343.3	NP_004334.1	P27797	CALR_HUMAN			5	602	+			177			N-domain.		Q6IAT4|Q9UDG2	Missense_Mutation	SNP	ENST00000316448.5	37	c.529C>T	CCDS12288.1	.	.	.	.	.	.	.	.	.	.	C	16.90	3.249285	0.59103	.	.	ENSG00000179218	ENST00000316448;ENST00000539083	T	0.55588	0.51	5.6	3.44	0.39384	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);	0.108387	0.64402	D	0.000008	T	0.78660	0.4318	H	0.94306	3.52	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	D	0.83753	0.0210	10	0.87932	D	0	-28.0286	13.4087	0.60929	0.3156:0.6844:0.0:0.0	.	177	P27797	CALR_HUMAN	W	177;56	ENSP00000320866:R177W	ENSP00000320866:R177W	R	+	1	2	CALR	12912093	0.340000	0.24792	0.996000	0.52242	0.522000	0.34438	0.620000	0.24403	0.656000	0.30886	-0.314000	0.08810	CGG		0.532	CALR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451952.1	NM_004343		4	99	0	0	0	1	0	4	99					T	13051093	C	T	13051093	3	4	125	1	0	0	0	0	1	0	0	0	2592	759	27	1	547	1	CALR	19	13051093	Missense_Mutation	SNP	C	TCGA-EJ-A6RA-01A-11D-A33T-08		13051093	46077890	24	6581											
CEACAM4	1089	broad.mit.edu	37	chr19	42132119	42132119	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgtctctcgaccactgtatgCggcccctgggatatttgctt	5	14	10	12	2	1	0	0	0	1	0	3	2	1	1	3	2	2	2	3	2	2	4			TCGA-EJ-A6RA-01A-11D-A33T-08	TCGA-EJ-A6RA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	456a9fb1-804b-413e-ab74-dd30d4e6954e	40ec64e3-ca43-4bac-8a1a-62f299e29f7c	g.chr19:42132119C>T	ENST00000221954.2	-	2	390	c.280G>A	c.(280-282)Gca>Aca	p.A94T	CEACAM4_ENST00000600925.1_Missense_Mutation_p.A94T	NM_001817.2	NP_001808.2	O75871	CEAM4_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 4	94	Ig-like V-type.					integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)		p.A94T(1)		NS(1)|endometrium(1)|large_intestine(3)|lung(4)|prostate(3)|skin(3)|urinary_tract(1)	16						CCACTGTATGCGGCCCCTGGG	0.488																																						ENST00000221954.2																			1	Substitution - Missense(1)	p.A94T(1)	lung(1)	NS(1)|endometrium(1)|large_intestine(3)|lung(4)|prostate(3)|skin(3)|urinary_tract(1)	16						c.(280-282)Gca>Aca		carcinoembryonic antigen-related cell adhesion molecule 4							166	157	160					19																	42132119		2203	4300	6503	SO:0001583	missense	1089					integral to plasma membrane|membrane fraction		g.chr19:42132119C>T	D90276	CCDS33033.1	19q13.2	2013-01-11			ENSG00000105352	ENSG00000105352		"Immunoglobulin superfamily / V-set domain containing"	1816	protein-coding gene	gene with protein product				CGM7		2050678	Standard	XM_005258434		Approved		uc002orh.1	O75871	OTTHUMG00000151065	ENST00000221954.2:c.280G>A	19.37:g.42132119C>T	ENSP00000221954:p.Ala94Thr					CEACAM4_ENST00000600925.1_Missense_Mutation_p.A94T	p.A94T	NM_001817.2	NP_001808.2	O75871	CEAM4_HUMAN			2	390	-			94			Ig-like V-type.		Q03715|Q7LDZ7	Missense_Mutation	SNP	ENST00000221954.2	37	c.280G>A	CCDS33033.1	.	.	.	.	.	.	.	.	.	.	C	14.79	2.639939	0.47153	.	.	ENSG00000105352	ENST00000221954	T	0.66280	-0.2	1.76	1.76	0.24704	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.76278	0.3965	M	0.84219	2.685	0.09310	N	1	D;D	0.89917	0.997;1.0	D;D	0.73380	0.921;0.98	T	0.61207	-0.7109	9	0.66056	D	0.02	.	6.9535	0.24558	0.0:1.0:0.0:0.0	.	94;94	E7EMX3;O75871	.;CEAM4_HUMAN	T	94	ENSP00000221954:A94T	ENSP00000221954:A94T	A	-	1	0	CEACAM4	46823959	0.000000	0.05858	0.009000	0.14445	0.015000	0.08874	0.618000	0.24373	1.281000	0.44480	0.205000	0.17691	GCA		0.488	CEACAM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321148.1	NM_001817		4	171	0	0	0	1	0	4	171					T	42132119	C	T	42132119	3	4	125	1	0	0	0	0	1	0	0	0	3194	768	27	1	478	1	CEACAM4	19	42132119	Missense_Mutation	SNP	C	TCGA-EJ-A6RA-01A-11D-A33T-08	29081026	42132119	16996864	25	6582											
ZNF70	7621	broad.mit.edu	37	chr22	24086056	24086056	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctcccccggaaggacttgccGcacagattgcacacgtaggg	9	6	12	14	3	0	1	0	0	0	1	1	3	1	3	3	3	2	3	3	3	2	3			TCGA-EJ-A6RA-01A-11D-A33T-08	TCGA-EJ-A6RA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	456a9fb1-804b-413e-ab74-dd30d4e6954e	40ec64e3-ca43-4bac-8a1a-62f299e29f7c	g.chr22:24086056G>A	ENST00000341976.3	-	2	1732	c.1272C>T	c.(1270-1272)tgC>tgT	p.C424C		NM_021916.2	NP_068735.1	Q9UC06	ZNF70_HUMAN	zinc finger protein 70	424					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|urinary_tract(1)	21						AGGACTTGCCGCACAGATTGC	0.547																																						ENST00000341976.3																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|urinary_tract(1)	21						c.(1270-1272)tgC>tgT		zinc finger protein 70							113	111	112					22																	24086056		2203	4300	6503	SO:0001819	synonymous_variant	7621					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr22:24086056G>A	X60077	CCDS13812.1	22q11.23	2013-01-08	2006-05-12		ENSG00000187792	ENSG00000187792		"Zinc fingers, C2H2-type"	13140	protein-coding gene	gene with protein product		194544	"zinc finger protein 70 (Cos17)"			1639391	Standard	NM_021916		Approved	Cos17, MGC48959	uc002zxs.3	Q9UC06	OTTHUMG00000150739	ENST00000341976.3:c.1272C>T	22.37:g.24086056G>A							p.C424C	NM_021916.2	NP_068735.1	Q9UC06	ZNF70_HUMAN			2	1732	-			424						Silent	SNP	ENST00000341976.3	37	c.1272C>T	CCDS13812.1																																																																																				0.547	ZNF70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319881.1	NM_021916		4	148	0	0	0	1	0	4	148					A	24086056	G	A	24086056	2	1	125	1	0	0	0	0	0	0	0	1	18100	1079	38	1		1	ZNF70	22	24086056	Silent	SNP	G	TCGA-EJ-A6RA-01A-11D-A33T-08		24086056	27218510	26	6583											
SLC45A1	50651	broad.mit.edu	37	chr1	8390957	8390957	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagccggaggagggggtccCgaaaccagcaggagaaggaa	13	1	18	9	2	0	1	0	0	0	1	1	6	1	4	3	6	3	2	3	6	3	0			TCGA-EJ-A6RC-01A-11D-A32B-08	TCGA-EJ-A6RC-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	379affa6-98e2-459e-ac52-5ce57f69e2dd	bb8583d6-621a-4f59-87af-0a72dd30e1a6	g.chr1:8390957C>T	ENST00000471889.1	+	5	1789	c.1404C>T	c.(1402-1404)ccC>ccT	p.P468P	SLC45A1_ENST00000377479.2_Silent_p.P502P|Y_RNA_ENST00000516445.1_RNA|SLC45A1_ENST00000289877.8_Silent_p.P468P|SLC45A1_ENST00000481265.1_3'UTR			Q9Y2W3	S45A1_HUMAN	solute carrier family 45, member 1	468					carbohydrate transport (GO:0008643)	integral component of membrane (GO:0016021)	symporter activity (GO:0015293)			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(2)	33	Ovarian(185;0.0661)|all_lung(157;0.127)	all_epithelial(116;1.22e-15)|all_lung(118;0.000147)|Lung NSC(185;0.000251)|Renal(390;0.000469)|Colorectal(325;0.00578)|Breast(348;0.00686)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;3.95e-66)|GBM - Glioblastoma multiforme(8;5.93e-33)|Colorectal(212;2.86e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|Kidney(185;5.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|KIRC - Kidney renal clear cell carcinoma(229;0.000979)|STAD - Stomach adenocarcinoma(132;0.00199)|READ - Rectum adenocarcinoma(331;0.0649)		GAGGGGGTCCCGAAACCAGCA	0.607																																						ENST00000471889.1																			0				central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(2)	33						c.(1402-1404)ccC>ccT		solute carrier family 45, member 1							52	64	60					1																	8390957		2203	4299	6502	SO:0001819	synonymous_variant	50651				carbohydrate transport	integral to membrane	symporter activity	g.chr1:8390957C>T	AF118274	CCDS30577.1	1p36.23	2014-01-28	2005-10-04	2005-10-04	ENSG00000162426	ENSG00000162426		"Solute carriers"	17939	protein-coding gene	gene with protein product	"H+/sugar symporter"	605763	"deleted in neuroblastoma 5"	DNB5		10729226	Standard	XM_005263467		Approved		uc001apb.3	Q9Y2W3	OTTHUMG00000000503	ENST00000471889.1:c.1404C>T	1.37:g.8390957C>T						SLC45A1_ENST00000481265.1_3'UTR|SLC45A1_ENST00000289877.8_Silent_p.P468P|SLC45A1_ENST00000377479.2_Silent_p.P502P	p.P468P			Q9Y2W3	S45A1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;3.95e-66)|GBM - Glioblastoma multiforme(8;5.93e-33)|Colorectal(212;2.86e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|Kidney(185;5.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|KIRC - Kidney renal clear cell carcinoma(229;0.000979)|STAD - Stomach adenocarcinoma(132;0.00199)|READ - Rectum adenocarcinoma(331;0.0649)	5	1789	+	Ovarian(185;0.0661)|all_lung(157;0.127)	all_epithelial(116;1.22e-15)|all_lung(118;0.000147)|Lung NSC(185;0.000251)|Renal(390;0.000469)|Colorectal(325;0.00578)|Breast(348;0.00686)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11)	468					Q5VY46|Q5VY49	Silent	SNP	ENST00000471889.1	37	c.1404C>T	CCDS30577.1																																																																																				0.607	SLC45A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001245.5			5	97	0	0	0	1	0	5	97					T	8390957	C	T	8390957	2	4	126	1	0	0	0	0	0	0	0	1	14640	639	23	2		2	SLC45A1	1	8390957	Silent	SNP	C	TCGA-EJ-A6RC-01A-11D-A32B-08		8390957	240859664	1	6584											
C1orf127	148345	broad.mit.edu	37	chr1	11015082	11015082	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cccggccgccggaatgctgaCcaccacaaagtccttgttct	8	8	9	16	3	1	1	0	1	1	0	2	2	2	2	6	2	1	2	6	2	2	2			TCGA-EJ-A6RC-01A-11D-A32B-08	TCGA-EJ-A6RC-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	379affa6-98e2-459e-ac52-5ce57f69e2dd	bb8583d6-621a-4f59-87af-0a72dd30e1a6	g.chr1:11015082C>A	ENST00000377008.4	-	8	885	c.439G>T	c.(439-441)Gtc>Ttc	p.V147F	C1orf127_ENST00000377004.4_Missense_Mutation_p.V314F			Q8N9H9	CA127_HUMAN	chromosome 1 open reading frame 127	147										NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(5)	32	Ovarian(185;0.249)	Lung NSC(185;0.000226)|all_lung(284;0.000302)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.71e-07)|COAD - Colon adenocarcinoma(227;7.79e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000305)|Kidney(185;0.000785)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|READ - Rectum adenocarcinoma(331;0.0509)		GGAATGCTGACCACCACAAAG	0.557																																						ENST00000377004.4																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(5)	32						c.(940-942)Gtc>Ttc		chromosome 1 open reading frame 127							93	88	89					1																	11015082		2203	4300	6503	SO:0001583	missense	148345							g.chr1:11015082C>A	AK094437	CCDS53267.1	1p36.22	2008-02-05			ENSG00000175262	ENSG00000175262			26730	protein-coding gene	gene with protein product						14702039	Standard	NM_001170754		Approved	FLJ37118	uc010oao.2	Q8N9H9	OTTHUMG00000002032	ENST00000377008.4:c.439G>T	1.37:g.11015082C>A	ENSP00000366207:p.Val147Phe					C1orf127_ENST00000377008.4_Missense_Mutation_p.V147F	p.V314F	NM_001170754.1	NP_001164225.1	B7ZLG7	B7ZLG7_HUMAN	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.71e-07)|COAD - Colon adenocarcinoma(227;7.79e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000305)|Kidney(185;0.000785)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|READ - Rectum adenocarcinoma(331;0.0509)	9	939	-	Ovarian(185;0.249)	Lung NSC(185;0.000226)|all_lung(284;0.000302)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731)	165					A0AVG8|A6NKM7|Q5VXJ2	Missense_Mutation	SNP	ENST00000377008.4	37	c.940G>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.66|16.66	3.184461|3.184461	0.57800|0.57800	.|.	.|.	ENSG00000175262|ENSG00000175262	ENST00000377004;ENST00000377008|ENST00000418570;ENST00000520253	T;T|.	0.34472|.	1.36;1.36|.	4.58|4.58	3.66|3.66	0.41972|0.41972	.|.	0.477496|.	0.16425|.	N|.	0.214972|.	T|T	0.26195|0.26195	0.0639|0.0639	L|L	0.27053|0.27053	0.805|0.805	0.09310|0.09310	N|N	0.999999|0.999999	D;D;D|.	0.71674|.	0.998;0.998;0.998|.	D;D;D|.	0.73708|.	0.981;0.981;0.981|.	T|T	0.11941|0.11941	-1.0567|-1.0567	10|5	0.87932|.	D|.	0|.	-7.841|-7.841	6.1194|6.1194	0.20144|0.20144	0.0:0.7879:0.0:0.2121|0.0:0.7879:0.0:0.2121	.|.	165;165;147|.	B7ZLG7;Q8N9H9-2;Q8N9H9|.	.;.;CA127_HUMAN|.	F|C	314;147|148;291	ENSP00000366203:V314F;ENSP00000366207:V147F|.	ENSP00000366203:V314F|.	V|W	-|-	1|3	0|0	C1orf127|C1orf127	10937669|10937669	0.000000|0.000000	0.05858|0.05858	0.045000|0.045000	0.18777|0.18777	0.068000|0.068000	0.16541|0.16541	-0.285000|-0.285000	0.08410|0.08410	2.105000|2.105000	0.64084|0.64084	0.561000|0.561000	0.74099|0.74099	GTC|TGG		0.557	C1orf127-202	KNOWN	basic	protein_coding	protein_coding		NM_173507		4	60	1	0	0.00909568	1	0.00941483	4	60					A	11015082	C	A	11015082	3	1	126	1	0	0	0	0	1	0	0	0	1994	507	18	5	1547	5	C1orf127	1	11015082	Missense_Mutation	SNP	C	TCGA-EJ-A6RC-01A-11D-A32B-08	2624125	11015082	238235539	2	6585											
OR10R2	343406	broad.mit.edu	37	chr1	158450674	158450674	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctctaaaactatataattGaaatattattacattttaga	17	18	2	4	0	1	2	0	1	1	1	2	2	1	2	0	0	2	0	0	0	10	11			TCGA-EJ-A6RC-01A-11D-A32B-08	TCGA-EJ-A6RC-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	379affa6-98e2-459e-ac52-5ce57f69e2dd	bb8583d6-621a-4f59-87af-0a72dd30e1a6	g.chr1:158450674G>T	ENST00000368152.1	+	1	1007	c.1007G>T	c.(1006-1008)tGa>tTa	p.*336L	RP11-144L1.4_ENST00000426251.1_RNA|RP11-144L1.4_ENST00000419738.1_RNA	NM_001004472.1	NP_001004472.1	Q8NGX6	O10R2_HUMAN	olfactory receptor, family 10, subfamily R, member 2	0						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(26)|pancreas(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	41	all_hematologic(112;0.0378)					CTATATAATTGAAATATTATT	0.294																																						ENST00000368152.1																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(26)|pancreas(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	41						c.e1+1		olfactory receptor, family 10, subfamily R, member 2							18	19	19					1																	158450674		2189	4288	6477	SO:0001630	splice_region_variant	343406				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158450674G>T	AB065640	CCDS30898.1	1q23.1	2012-08-09			ENSG00000198965	ENSG00000198965		"GPCR / Class A : Olfactory receptors"	14820	protein-coding gene	gene with protein product							Standard	NM_001004472		Approved	OR10R2Q	uc010pik.2	Q8NGX6	OTTHUMG00000019632	ENST00000368152.1:c.1005+1G>T	1.37:g.158450674G>T						RP11-144L1.4_ENST00000419738.1_RNA|RP11-144L1.4_ENST00000426251.1_RNA	p.*336_splice	NM_001004472.1	NP_001004472.1	Q8NGX6	O10R2_HUMAN			1	1007	+	all_hematologic(112;0.0378)		0					Q5VWM8|Q6IFS1|Q96R61	Splice_Site	SNP	ENST00000368152.1	37	c.1005_splice	CCDS30898.1	.	.	.	.	.	.	.	.	.	.	g	5.826	0.336624	0.11013	.	.	ENSG00000198965	ENST00000368152	.	.	.	3.34	-1.63	0.08345	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.2288	0.10592	0.5574:0.0:0.2678:0.1748	.	.	.	.	L	336	.	.	X	+	2	2	OR10R2	156717298	0.000000	0.05858	0.001000	0.08648	0.013000	0.08279	-1.063000	0.03465	-0.357000	0.08175	-0.140000	0.14226	TGA		0.294	OR10R2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051847.2	NM_001004472	Nonstop_Mutation	3	28	1	0	0.115264	1	0.117251	3	28					T	158450674	G	T	158450674	5	4	126	1	0	0	0	0	0	0	1	0	10917	1304	45	5	1009	5	OR10R2	1	158450674	Splice_Site	SNP	G	TCGA-EJ-A6RC-01A-11D-A32B-08	147435592	158450674	90799947	3	6586											
MYOC	4653	broad.mit.edu	37	chr1	171605566	171605566	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgacagttctggactcagcGccctggaaatagaggctccc	10	8	11	12	1	2	2	1	1	1	1	3	4	3	4	2	3	1	2	2	3	2	2			TCGA-EJ-A6RC-01A-11D-A32B-08	TCGA-EJ-A6RC-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	379affa6-98e2-459e-ac52-5ce57f69e2dd	bb8583d6-621a-4f59-87af-0a72dd30e1a6	g.chr1:171605566G>A	ENST00000037502.6	-	3	1085	c.1014C>T	c.(1012-1014)ggC>ggT	p.G338G		NM_000261.1	NP_000252.1	Q99972	MYOC_HUMAN	myocilin, trabecular meshwork inducible glucocorticoid response	338	Olfactomedin-like. {ECO:0000255|PROSITE- ProRule:PRU00446}.				bone development (GO:0060348)|clustering of voltage-gated sodium channels (GO:0045162)|ERBB2-ERBB3 signaling pathway (GO:0038133)|myelination in peripheral nervous system (GO:0022011)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of stress fiber assembly (GO:0051497)|neuron projection development (GO:0031175)|non-canonical Wnt signaling pathway via JNK cascade (GO:0038031)|osteoblast differentiation (GO:0001649)|positive regulation of cell migration (GO:0030335)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of mitochondrial depolarization (GO:0051901)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|regulation of MAPK cascade (GO:0043408)|skeletal muscle hypertrophy (GO:0014734)	cilium (GO:0005929)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrial outer membrane (GO:0005741)|node of Ranvier (GO:0033268)|proteinaceous extracellular matrix (GO:0005578)	fibronectin binding (GO:0001968)|frizzled binding (GO:0005109)|myosin light chain binding (GO:0032027)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|prostate(1)|urinary_tract(2)	28	all_cancers(6;5.47e-10)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181)					TGGACTCAGCGCCCTGGAAAT	0.532																																						ENST00000037502.5																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|prostate(1)|urinary_tract(2)	28						c.(1012-1014)ggC>ggT		myocilin, trabecular meshwork inducible glucocorticoid response							70	67	68					1																	171605566		2203	4300	6503	SO:0001819	synonymous_variant	4653				anatomical structure morphogenesis	cilium|extracellular space|rough endoplasmic reticulum	structural molecule activity	g.chr1:171605566G>A	BC029261	CCDS1297.1	1q23-q24	2008-02-05			ENSG00000034971	ENSG00000034971			7610	protein-coding gene	gene with protein product		601652		GLC1A		9169133, 9005853	Standard	NM_000261		Approved	TIGR, JOAG1	uc001ghu.3	Q99972	OTTHUMG00000034789	ENST00000037502.6:c.1014C>T	1.37:g.171605566G>A							p.G338G	NM_000261.1	NP_000252.1	Q99972	MYOC_HUMAN			3	1073	-	all_cancers(6;5.47e-10)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181)		338			Olfactomedin-like.		B2RD84|O00620|Q7Z6Q9	Silent	SNP	ENST00000037502.6	37	c.1014C>T	CCDS1297.1	.	.	.	.	.	.	.	.	.	.	G	0.027	-1.359707	0.01245	.	.	ENSG00000034971	ENST00000537133	.	.	.	5.76	-7.41	0.01392	.	.	.	.	.	T	0.09905	0.0243	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	T	0.36866	-0.9730	5	0.54805	T	0.06	.	2.3449	0.04269	0.2377:0.2098:0.3702:0.1823	.	.	.	.	V	338	.	ENSP00000438746:A338V	A	-	2	0	MYOC	169872189	0.000000	0.05858	0.001000	0.08648	0.103000	0.19146	-3.001000	0.00652	-1.270000	0.02433	-0.315000	0.08773	GCG		0.532	MYOC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084178.2	NM_000261		7	50	0	0	0	1	0	7	50					A	171605566	G	A	171605566	2	1	126	1	0	0	0	0	0	0	0	1	10086	1074	38	1		1	MYOC	1	171605566	Silent	SNP	G	TCGA-EJ-A6RC-01A-11D-A32B-08	13154892	171605566	77645055	4	6587											
TGOLN2	10618	broad.mit.edu	37	chr2	85554633	85554633	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggggtgtcttctggggtctgCgcctccgcactcgacttgct	2	12	14	13	3	3	0	0	0	3	0	5	1	4	0	2	4	2	2	2	4	0	2	rs556852343		TCGA-EJ-A6RC-01A-11D-A32B-08	TCGA-EJ-A6RC-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	379affa6-98e2-459e-ac52-5ce57f69e2dd	bb8583d6-621a-4f59-87af-0a72dd30e1a6	g.chr2:85554633C>T	ENST00000409232.3	-	2	283	c.222G>A	c.(220-222)gcG>gcA	p.A74A	TGOLN2_ENST00000444342.2_Silent_p.A74A|TGOLN2_ENST00000377386.3_Silent_p.A74A|TGOLN2_ENST00000282120.2_Intron|TGOLN2_ENST00000398263.2_Silent_p.A74A|TGOLN2_ENST00000409015.1_Silent_p.A74A			O43493	TGON2_HUMAN	trans-golgi network protein 2	74	14 X 14 AA tandem repeats.			A -> P (in Ref. 4; BAD96783). {ECO:0000305}.		Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)|transport vesicle (GO:0030133)											CTGGGGTCTGCGCCTCCGCAC	0.607																																						ENST00000377386.3																			0											c.(220-222)gcG>gcA		trans-golgi network protein 2							175	176	176					2																	85554633		1949	4138	6087	SO:0001819	synonymous_variant	10618					integral to membrane|nucleus|plasma membrane|trans-Golgi network|transport vesicle	protein binding	g.chr2:85554633C>T	AF027515	CCDS46351.1, CCDS56126.1, CCDS56127.1	2p11.2	2012-06-25			ENSG00000152291	ENSG00000152291			15450	protein-coding gene	gene with protein product	"trans-Golgi network protein (46, 48, 51kD isoforms)"	603062				9422759, 21994457	Standard	NM_001206840		Approved	TGN51, TGN46, TGN48, TGN38, TTGN2	uc021vjw.1	O43493	OTTHUMG00000153017	ENST00000409232.3:c.222G>A	2.37:g.85554633C>T						TGOLN2_ENST00000282120.2_Intron|TGOLN2_ENST00000398263.2_Silent_p.A74A|TGOLN2_ENST00000444342.2_Silent_p.A74A|TGOLN2_ENST00000409232.3_Silent_p.A74A|TGOLN2_ENST00000409015.1_Silent_p.A74A	p.A74A			O43493	TGON2_HUMAN			2	684	-			74	A -> P (in Ref. 4; BAD96783).		14 X 14 AA tandem repeats.		B2R686|B8ZZ88|D6W5K3|F8WBK2|O15282|O43492|O43499|O43500|O43501|Q53G68|Q53GV2|Q6MZV1|Q6ZTM7|Q8N6T8|Q92760|Q96QL2	Silent	SNP	ENST00000409232.3	37	c.222G>A	CCDS56126.1																																																																																				0.607	TGOLN2-006	NOVEL	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000329045.2	NM_006464		5	272	0	0	0	1	0	5	272					T	85554633	C	T	85554633	2	4	126	1	0	0	0	0	0	0	0	1	15833	755	27	1		1	TGOLN2	2	85554633	Silent	SNP	C	TCGA-EJ-A6RC-01A-11D-A32B-08		85554633	157644740	5	6588											
XIRP2	129446	broad.mit.edu	37	chr2	168099562	168099562	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aaaacacaaatgacagttctCaaaaagatctgaactcagaa	21	7	5	8	0	3	4	2	2	2	2	4	4	3	4	0	0	2	1	0	0	7	1	rs535459432		TCGA-EJ-A6RC-01A-11D-A32B-08	TCGA-EJ-A6RC-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	379affa6-98e2-459e-ac52-5ce57f69e2dd	bb8583d6-621a-4f59-87af-0a72dd30e1a6	g.chr2:168099562C>G	ENST00000409195.1	+	9	1749	c.1660C>G	c.(1660-1662)Caa>Gaa	p.Q554E	XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.Q332E|XIRP2_ENST00000295237.9_Missense_Mutation_p.Q554E|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409605.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	379					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						TGACAGTTCTCAAAAAGATCT	0.398																																						ENST00000409195.1																			0				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						c.(1660-1662)Caa>Gaa		xin actin-binding repeat containing 2							44	41	42					2																	168099562		1838	4092	5930	SO:0001583	missense	129446				actin cytoskeleton organization	cell junction	actin binding	g.chr2:168099562C>G	AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"myomaxin"	609778	"cardiomyopathy associated 3"	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409195.1:c.1660C>G	2.37:g.168099562C>G	ENSP00000386840:p.Gln554Glu					XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.Q332E|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.Q554E|XIRP2_ENST00000420519.1_Intron	p.Q554E	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN			9	1749	+			379					A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Missense_Mutation	SNP	ENST00000409195.1	37	c.1660C>G	CCDS42769.1	.	.	.	.	.	.	.	.	.	.	C	16.87	3.241503	0.58995	.	.	ENSG00000163092	ENST00000409195;ENST00000295237;ENST00000409273	T;T;T	0.02579	4.24;4.24;4.24	5.54	5.54	0.83059	.	0.477259	0.22959	N	0.053564	T	0.09862	0.0242	L	0.34521	1.04	0.36110	D	0.844725	D;D;D	0.67145	0.976;0.986;0.996	B;P;D	0.76071	0.446;0.648;0.987	T	0.37337	-0.9710	10	0.34782	T	0.22	-6.0939	19.0979	0.93260	0.0:1.0:0.0:0.0	.	379;379;332	A4UGR9;A4UGR9-3;A4UGR9-2	XIRP2_HUMAN;.;.	E	554;554;332	ENSP00000386840:Q554E;ENSP00000295237:Q554E;ENSP00000387255:Q332E	ENSP00000295237:Q554E	Q	+	1	0	XIRP2	167807808	0.371000	0.25056	1.000000	0.80357	0.995000	0.86356	1.751000	0.38339	2.615000	0.88500	0.655000	0.94253	CAA		0.398	XIRP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333547.1	NM_152381		5	49	0	0	0	1	0	5	49					G	168099562	C	G	168099562	3	3	126	1	0	0	0	0	1	0	0	0	17427	827	29	5	1690	5	XIRP2	2	168099562	Missense_Mutation	SNP	C	TCGA-EJ-A6RC-01A-11D-A32B-08	82544929	168099562	75099811	6	6589											
CCDC141	285025	broad.mit.edu	37	chr2	179730612	179730612	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caaggagctccagctgctgcTgtaggttctttgcagaaaca	10	10	11	10	0	1	1	0	0	1	1	2	2	2	2	1	2	6	7	1	2	3	3	rs529827464		TCGA-EJ-A6RC-01A-11D-A32B-08	TCGA-EJ-A6RC-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	379affa6-98e2-459e-ac52-5ce57f69e2dd	bb8583d6-621a-4f59-87af-0a72dd30e1a6	g.chr2:179730612T>C	ENST00000420890.2	-	17	2723	c.2606A>G	c.(2605-2607)cAg>cGg	p.Q869R	CCDC141_ENST00000295723.5_Missense_Mutation_p.Q294R	NM_173648.3	NP_775919.3	Q6ZP82	CC141_HUMAN	coiled-coil domain containing 141	869										NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)	78			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)			CAGCTGCTGCTGTAGGTTCTT	0.502													T|||	1	0.000199681	0	0	5008	,	,		20307	0		0	False		,,,				2504	0.001					ENST00000420890.2																			0				NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)	78						c.(2605-2607)cAg>cGg		coiled-coil domain containing 141							194	185	188					2																	179730612		2203	4300	6503	SO:0001583	missense	285025						protein binding	g.chr2:179730612T>C	AK096821		2q31.2	2013-01-14			ENSG00000163492	ENSG00000163492		"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	26821	protein-coding gene	gene with protein product	"coiled-coil protein associated with myosin II and DISC1"					20956536	Standard	NM_173648		Approved	FLJ39502, CAMDI	uc002une.2	Q6ZP82	OTTHUMG00000132578	ENST00000420890.2:c.2606A>G	2.37:g.179730612T>C	ENSP00000395995:p.Gln869Arg					CCDC141_ENST00000295723.5_Missense_Mutation_p.Q294R	p.Q869R	NM_173648.3	NP_775919.3	Q6ZP82	CC141_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)		17	2723	-			294			Ig-like.		H7C0P1|J3KNW6|Q8N8H3	Missense_Mutation	SNP	ENST00000420890.2	37	c.2606A>G		.	.	.	.	.	.	.	.	.	.	T	13.89	2.370683	0.42003	.	.	ENSG00000163492	ENST00000420890;ENST00000343876;ENST00000295723;ENST00000443758	T;T;T;T	0.48522	0.81;1.29;1.29;1.35	6.07	6.07	0.98685	.	0.113405	0.39407	N	0.001369	T	0.55689	0.1936	L	0.32530	0.975	0.29387	N	0.862892	D	0.69078	0.997	P	0.61132	0.884	T	0.55451	-0.8139	10	0.42905	T	0.14	-9.5868	16.6277	0.84984	0.0:0.0:0.0:1.0	.	294	Q6ZP82	CC141_HUMAN	R	869;313;294;869	ENSP00000395995:Q869R;ENSP00000344627:Q313R;ENSP00000295723:Q294R;ENSP00000390190:Q869R	ENSP00000295723:Q294R	Q	-	2	0	CCDC141	179438857	1.000000	0.71417	0.996000	0.52242	0.408000	0.30992	5.465000	0.66725	2.330000	0.79161	0.528000	0.53228	CAG		0.502	CCDC141-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_173648		6	173	0	0	0	1	0	6	173					C	179730612	T	C	179730612	3	2	126	1	0	0	0	0	1	0	0	0	2775	1580	55	4	1774	4	CCDC141	2	179730612	Missense_Mutation	SNP	T	TCGA-EJ-A6RC-01A-11D-A32B-08	11631050	179730612	63468761	7	6590											
TEX264	51368	broad.mit.edu	37	chr3	51708534	51708534	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ctgagagctgcagcatctctCccaagctccgctccatcgct	7	9	8	17	2	1	1	0	1	1	1	6	2	4	1	3	0	4	6	3	0	1	0			TCGA-EJ-A6RC-01A-11D-A32B-08	TCGA-EJ-A6RC-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	379affa6-98e2-459e-ac52-5ce57f69e2dd	bb8583d6-621a-4f59-87af-0a72dd30e1a6	g.chr3:51708534C>T	ENST00000415259.1	+	2	1295	c.214C>T	c.(214-216)Ccc>Tcc	p.P72S	TEX264_ENST00000395057.1_Missense_Mutation_p.P72S|TEX264_ENST00000341333.5_Missense_Mutation_p.P72S|TEX264_ENST00000416589.1_Missense_Mutation_p.P72S|TEX264_ENST00000457573.1_Missense_Mutation_p.P72S			Q9Y6I9	TX264_HUMAN	testis expressed 264	72						extracellular vesicular exosome (GO:0070062)				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)	7				BRCA - Breast invasive adenocarcinoma(193;8.53e-05)|Kidney(197;0.000594)|KIRC - Kidney renal clear cell carcinoma(197;0.000759)		CAGCATCTCTCCCAAGCTCCG	0.597																																						ENST00000415259.1																			0				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)	7						c.(214-216)Ccc>Tcc		testis expressed 264							60	55	57					3																	51708534		2203	4300	6503	SO:0001583	missense	51368					extracellular region		g.chr3:51708534C>T	AF072733	CCDS2833.1, CCDS74945.1	3p21	2007-03-13	2007-03-13		ENSG00000164081	ENSG00000164081			30247	protein-coding gene	gene with protein product			"testis expressed gene 264", "testis expressed sequence 264"			12975309	Standard	NM_001243725		Approved	ZSIG11, FLJ13935	uc003dbm.4	Q9Y6I9	OTTHUMG00000156901	ENST00000415259.1:c.214C>T	3.37:g.51708534C>T	ENSP00000396628:p.Pro72Ser					TEX264_ENST00000395057.1_Missense_Mutation_p.P72S|TEX264_ENST00000416589.1_Missense_Mutation_p.P72S|TEX264_ENST00000457573.1_Missense_Mutation_p.P72S|TEX264_ENST00000341333.5_Missense_Mutation_p.P72S	p.P72S			Q9Y6I9	TX264_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.53e-05)|Kidney(197;0.000594)|KIRC - Kidney renal clear cell carcinoma(197;0.000759)	2	1295	+			72					B3KN87|Q9UKD7	Missense_Mutation	SNP	ENST00000415259.1	37	c.214C>T	CCDS2833.1	.	.	.	.	.	.	.	.	.	.	C	16.98	3.270406	0.59540	.	.	ENSG00000164081	ENST00000419358;ENST00000457573;ENST00000341333;ENST00000412249;ENST00000425781;ENST00000415259;ENST00000395057;ENST00000416589;ENST00000457927;ENST00000444233	T;T;T;T;T;T;T;T;T;T	0.08984	3.03;3.03;3.03;3.03;3.03;3.03;3.03;3.03;3.03;3.03	5.23	5.23	0.72850	Regulatory factor, effector, bacterial (1);	0.053759	0.85682	D	0.000000	T	0.15349	0.0370	L	0.52905	1.665	0.58432	D	0.999994	D;P	0.53745	0.962;0.751	P;P	0.51866	0.682;0.55	T	0.00256	-1.1873	10	0.49607	T	0.09	-10.7761	11.2371	0.48946	0.0:0.9065:0.0:0.0935	.	72;72	Q53GI2;Q9Y6I9	.;TX264_HUMAN	S	72	ENSP00000408989:P72S;ENSP00000408186:P72S;ENSP00000340969:P72S;ENSP00000393736:P72S;ENSP00000405783:P72S;ENSP00000396628:P72S;ENSP00000378497:P72S;ENSP00000398802:P72S;ENSP00000407151:P72S;ENSP00000415957:P72S	ENSP00000340969:P72S	P	+	1	0	TEX264	51683574	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	6.099000	0.71466	2.465000	0.83290	0.561000	0.74099	CCC		0.597	TEX264-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346530.1	NM_015926		5	39	0	0	0	1	0	5	39					T	51708534	C	T	51708534	3	4	126	1	0	0	0	0	1	0	0	0	15780	855	30	3	216	3	TEX264	3	51708534	Missense_Mutation	SNP	C	TCGA-EJ-A6RC-01A-11D-A32B-08		51708534	146313896	8	6591											
RYBP	23429	broad.mit.edu	37	chr3	72428576	72428576	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gctgagaattgatccgaggtTttctgaaatgttcaaaaaat	14	13	9	5	1	2	3	1	3	1	1	3	5	3	3	1	1	0	3	1	1	5	4			TCGA-EJ-A6RC-01A-11D-A32B-08	TCGA-EJ-A6RC-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	379affa6-98e2-459e-ac52-5ce57f69e2dd	bb8583d6-621a-4f59-87af-0a72dd30e1a6	g.chr3:72428576T>G	ENST00000477973.2	-	2	425	c.426A>C	c.(424-426)aaA>aaC	p.K142N		NM_012234.5	NP_036366.3	Q8N488	RYBP_HUMAN	RING1 and YY1 binding protein	0					apoptotic process (GO:0006915)|histone H2A monoubiquitination (GO:0035518)|multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			prostate(1)|upper_aerodigestive_tract(1)	2		Prostate(10;0.00174)|Lung NSC(201;0.0659)|Myeloproliferative disorder(1037;0.204)		BRCA - Breast invasive adenocarcinoma(55;0.000197)|Epithelial(33;0.00068)|LUSC - Lung squamous cell carcinoma(21;0.00228)|Lung(16;0.00677)|KIRC - Kidney renal clear cell carcinoma(39;0.198)|Kidney(39;0.232)		GATCCGAGGTTTTCTGAAATG	0.368																																						ENST00000477973.1																			0				prostate(1)|upper_aerodigestive_tract(1)	2						c.(424-426)aaA>aaC		RING1 and YY1 binding protein							56	53	54					3																	72428576		1825	4070	5895	SO:0001583	missense	23429				apoptosis|histone H2A monoubiquitination|multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleoplasm	DNA binding|protein binding|transcription corepressor activity|zinc ion binding	g.chr3:72428576T>G	AF179286		3p14.2	2008-07-18			ENSG00000163602	ENSG00000163602			10480	protein-coding gene	gene with protein product	"YY1 and E4TF1 associated factor 1", "ring1 interactor RYBP", "apoptin-associating protein 1", "death effector domain-associated factor"	607535				10369680	Standard	NM_012234		Approved	YEAF1, AAP1, DEDAF	uc003dpe.3	Q8N488	OTTHUMG00000159190	ENST00000477973.2:c.426A>C	3.37:g.72428576T>G	ENSP00000419494:p.Lys142Asn						p.K142N	NM_012234.5	NP_036366.3	Q8N488	RYBP_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000197)|Epithelial(33;0.00068)|LUSC - Lung squamous cell carcinoma(21;0.00228)|Lung(16;0.00677)|KIRC - Kidney renal clear cell carcinoma(39;0.198)|Kidney(39;0.232)	2	425	-		Prostate(10;0.00174)|Lung NSC(201;0.0659)|Myeloproliferative disorder(1037;0.204)	0					Q9P2W5|Q9UMW4	Missense_Mutation	SNP	ENST00000477973.2	37	c.426A>C		.	.	.	.	.	.	.	.	.	.	T	18.26	3.585630	0.66105	.	.	ENSG00000163602	ENST00000477973	.	.	.	5.88	5.88	0.94601	.	0.000000	0.85682	D	0.000000	T	0.74291	0.3697	M	0.69823	2.125	.	.	.	.	.	.	.	.	.	T	0.76208	-0.3043	5	.	.	.	-21.6665	16.3015	0.82820	0.0:0.0:0.0:1.0	.	.	.	.	N	142	.	.	K	-	3	2	RYBP	72511266	1.000000	0.71417	1.000000	0.80357	0.914000	0.54420	8.040000	0.89188	2.239000	0.73571	0.533000	0.62120	AAA		0.368	RYBP-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000353762.3	NM_012234		6	37	0	0	0	1	0	6	37					G	72428576	T	G	72428576	3	3	126	1	0	0	0	0	1	0	0	0	13766	1841	64	5	537	5	RYBP	3	72428576	Missense_Mutation	SNP	T	TCGA-EJ-A6RC-01A-11D-A32B-08	20720042	72428576	125593854	9	6592											
FAM55C	91775	broad.mit.edu	37	chr3	101520287	101520287	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtcccctttgtgaagagcaCtgacccttcttccagctact	8	12	7	14	0	1	3	0	2	1	1	3	3	3	3	4	0	3	2	4	0	2	4			TCGA-EJ-A6RC-01A-11D-A32B-08	TCGA-EJ-A6RC-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	379affa6-98e2-459e-ac52-5ce57f69e2dd	bb8583d6-621a-4f59-87af-0a72dd30e1a6	g.chr3:101520287C>G	ENST00000491511.2	+	5	1258	c.302C>G	c.(301-303)aCt>aGt	p.T101S	NXPE3_ENST00000273347.5_Missense_Mutation_p.T101S|NXPE3_ENST00000422132.1_Missense_Mutation_p.T101S|NXPE3_ENST00000477909.1_Missense_Mutation_p.T101S	NM_001134456.1	NP_001127928.1	Q969Y0	NXPE3_HUMAN	neurexophilin and PC-esterase domain family, member 3	101						extracellular region (GO:0005576)											GTGAAGAGCACTGACCCTTCT	0.552																																						ENST00000422132.1																			0											c.(301-303)aCt>aGt		neurexophilin and PC-esterase domain family, member 3							100	87	92					3																	101520287		2203	4300	6503	SO:0001583	missense	91775							g.chr3:101520287C>G	AK054664	CCDS2945.1	3q12.3	2012-06-14	2012-06-11	2012-06-11	ENSG00000144815	ENSG00000144815			28238	protein-coding gene	gene with protein product			"family with sequence similarity 55, member C"	FAM55C		12975309	Standard	NM_001134456		Approved	MGC15606	uc003dvn.3	Q969Y0	OTTHUMG00000159179	ENST00000491511.2:c.302C>G	3.37:g.101520287C>G	ENSP00000417485:p.Thr101Ser					NXPE3_ENST00000491511.1_Missense_Mutation_p.T101S|NXPE3_ENST00000273347.5_Missense_Mutation_p.T101S|NXPE3_ENST00000477909.1_Missense_Mutation_p.T101S	p.T101S							2	499	+								A8K0X4|D3DN53|Q7Z2S8	Missense_Mutation	SNP	ENST00000491511.2	37	c.302C>G	CCDS2945.1	.	.	.	.	.	.	.	.	.	.	C	12.56	1.974858	0.34848	.	.	ENSG00000144815	ENST00000273347;ENST00000491511;ENST00000477909;ENST00000422132	T;T;T;T	0.15017	2.46;2.46;2.46;2.46	5.67	4.8	0.61643	Immunoglobulin E-set (1);	0.079231	0.85682	N	0.000000	T	0.16128	0.0388	L	0.38733	1.17	0.41517	D	0.988373	B	0.13145	0.007	B	0.14023	0.01	T	0.02560	-1.1141	10	0.40728	T	0.16	-9.7919	15.2911	0.73868	0.0:0.7084:0.2916:0.0	.	101	Q969Y0	FA55C_HUMAN	S	101	ENSP00000273347:T101S;ENSP00000417485:T101S;ENSP00000418369:T101S;ENSP00000396421:T101S	ENSP00000273347:T101S	T	+	2	0	FAM55C	103002977	1.000000	0.71417	0.947000	0.38551	0.970000	0.65996	3.789000	0.55454	1.498000	0.48600	0.655000	0.94253	ACT		0.552	NXPE3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353711.2	NM_145037		8	95	0	0	0	1	0	8	95					G	101520287	C	G	101520287	3	3	126	1	0	0	0	0	1	0	0	0	5586	565	20	5	308	5	FAM55C	3	101520287	Missense_Mutation	SNP	C	TCGA-EJ-A6RC-01A-11D-A32B-08	29091711	101520287	96502143	10	6593											
PRDM8	56978	broad.mit.edu	37	chr4	81123237	81123237	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaccacgggggcggcggcggCggtggcaaagaccagcagca	9	1	19	12	5	0	1	0	0	0	1	0	2	0	1	2	7	2	3	2	7	1	0			TCGA-EJ-A6RC-01A-11D-A32B-08	TCGA-EJ-A6RC-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	379affa6-98e2-459e-ac52-5ce57f69e2dd	bb8583d6-621a-4f59-87af-0a72dd30e1a6	g.chr4:81123237C>T	ENST00000504452.1	+	8	1460	c.621C>T	c.(619-621)ggC>ggT	p.G207G	PRDM8_ENST00000415738.2_Silent_p.G207G|PRDM8_ENST00000339711.4_Silent_p.G207G			Q9NQV8	PRDM8_HUMAN	PR domain containing 8	207	Gly-rich.				corpus callosum morphogenesis (GO:0021540)|corticospinal tract morphogenesis (GO:0021957)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone methyltransferase activity (H3-K9 specific) (GO:0046974)|metal ion binding (GO:0046872)|transcription corepressor activity (GO:0003714)			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(2)	10						gcggcggcggcggtggcaaag	0.657											OREG0016246	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000339711.4																			0				breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(2)	10						c.(619-621)ggC>ggT		PR domain containing 8							24	31	29					4																	81123237		2009	4173	6182	SO:0001819	synonymous_variant	56978				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr4:81123237C>T	AF275815	CCDS43243.1	4q21	2008-08-21				ENSG00000152784			13993	protein-coding gene	gene with protein product							Standard	NM_020226		Approved		uc003hmc.4	Q9NQV8		ENST00000504452.1:c.621C>T	4.37:g.81123237C>T			OREG0016246	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1203	PRDM8_ENST00000504452.1_Silent_p.G207G|PRDM8_ENST00000415738.2_Silent_p.G207G	p.G207G	NM_020226.3	NP_064611.3	Q9NQV8	PRDM8_HUMAN			10	1852	+			207			Gly-rich.		A8K7X2|Q6IQ36	Silent	SNP	ENST00000504452.1	37	c.621C>T	CCDS43243.1																																																																																				0.657	PRDM8-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362793.1			4	42	0	0	0	1	0	4	42					T	81123237	C	T	81123237	2	4	126	1	0	0	0	0	0	0	0	1	12462	755	27	1		1	PRDM8	4	81123237	Silent	SNP	C	TCGA-EJ-A6RC-01A-11D-A32B-08		81123237	110031039	11	6594											
MYO10	4651	broad.mit.edu	37	chr5	16701504	16701504	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagtccttgaaggcgtcgtcGtcggcttcgaagccctcatc	6	10	12	13	5	1	1	1	1	0	0	7	3	2	1	2	2	1	1	2	2	2	2	rs375419087		TCGA-EJ-A6RC-01A-11D-A32B-08	TCGA-EJ-A6RC-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	379affa6-98e2-459e-ac52-5ce57f69e2dd	bb8583d6-621a-4f59-87af-0a72dd30e1a6	g.chr5:16701504G>T	ENST00000513610.1	-	25	3454	c.3000C>A	c.(2998-3000)gaC>gaA	p.D1000E	MYO10_ENST00000515803.1_Missense_Mutation_p.D339E|MYO10_ENST00000512061.1_5'Flank|MYO10_ENST00000505695.1_Missense_Mutation_p.D339E|MYO10_ENST00000274203.9_Missense_Mutation_p.D357E|MYO10_ENST00000427430.2_Missense_Mutation_p.D357E	NM_012334.2	NP_036466.2	Q9HD67	MYO10_HUMAN	myosin X	1000					ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cytoskeleton-dependent intracellular transport (GO:0030705)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|metabolic process (GO:0008152)|positive regulation of cell-cell adhesion (GO:0022409)|regulation of cell shape (GO:0008360)|regulation of filopodium assembly (GO:0051489)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|plus-end directed microfilament motor activity (GO:0060002)|spectrin binding (GO:0030507)	p.D1000D(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	86						AGGCGTCGTCGTCGGCTTCGA	0.617																																						ENST00000513610.1																			1	Substitution - coding silent(1)	p.D1000D(1)	central_nervous_system(1)	NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	86						c.(2998-3000)gaC>gaA		myosin X							38	42	41					5																	16701504		2145	4243	6388	SO:0001583	missense	4651				axon guidance|signal transduction	myosin complex	actin binding|ATP binding|motor activity	g.chr5:16701504G>T	AF247457	CCDS54834.1	5p15.1-p14.3	2013-01-10				ENSG00000145555		"Myosins / Myosin superfamily : Class X", "Pleckstrin homology (PH) domain containing"	7593	protein-coding gene	gene with protein product		601481				8884266	Standard	NM_012334		Approved	KIAA0799	uc003jft.4	Q9HD67		ENST00000513610.1:c.3000C>A	5.37:g.16701504G>T	ENSP00000421280:p.Asp1000Glu					MYO10_ENST00000505695.1_Missense_Mutation_p.D339E|MYO10_ENST00000515803.1_Missense_Mutation_p.D339E|MYO10_ENST00000427430.2_Missense_Mutation_p.D357E|MYO10_ENST00000274203.9_Missense_Mutation_p.D357E	p.D1000E	NM_012334.2	NP_036466.2	Q9HD67	MYO10_HUMAN			25	3454	-			1000					A7E2D1|O94893|Q8IVX5|Q9NYM7|Q9P110|Q9P111|Q9UHF6	Missense_Mutation	SNP	ENST00000513610.1	37	c.3000C>A	CCDS54834.1	.	.	.	.	.	.	.	.	.	.	G	15.73	2.920467	0.52653	.	.	ENSG00000145555	ENST00000513610;ENST00000515803;ENST00000274203;ENST00000505695;ENST00000427430	D;D;D;D;D	0.88046	-2.2;-2.33;-2.25;-2.33;-2.25	4.99	-0.96	0.10340	.	.	.	.	.	T	0.67515	0.2901	N	0.24115	0.695	0.45690	D	0.998602	B;P	0.39060	0.0;0.657	B;B	0.28385	0.002;0.089	T	0.60611	-0.7229	9	0.10377	T	0.69	.	5.4551	0.16586	0.6303:0.1748:0.195:0.0	.	641;1000	Q69YP8;Q9HD67	.;MYO10_HUMAN	E	1000;339;357;339;357	ENSP00000421280:D1000E;ENSP00000425051:D339E;ENSP00000274203:D357E;ENSP00000421170:D339E;ENSP00000391106:D357E	ENSP00000274203:D357E	D	-	3	2	MYO10	16754504	0.948000	0.32251	0.826000	0.32828	0.904000	0.53231	0.076000	0.14712	-0.089000	0.12484	0.462000	0.41574	GAC		0.617	MYO10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366167.1	NM_012334		3	18	1	0	0.004672	1	0.00492229	3	18					T	16701504	G	T	16701504	3	4	126	1	0	0	0	0	1	0	0	0	10062	1136	40	5	3244	5	MYO10	5	16701504	Missense_Mutation	SNP	G	TCGA-EJ-A6RC-01A-11D-A32B-08		16701504	164213756	12	6595											
COL4A3BP	10087	broad.mit.edu	37	chr5	74722233	74722233	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atgttgcagagtagccacttGctccagacaccagggacacc	11	7	10	13	0	0	2	0	0	0	2	1	3	1	3	4	1	3	4	4	1	1	3			TCGA-EJ-A6RC-01A-11D-A32B-08	TCGA-EJ-A6RC-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	379affa6-98e2-459e-ac52-5ce57f69e2dd	bb8583d6-621a-4f59-87af-0a72dd30e1a6	g.chr5:74722233G>T	ENST00000405807.4	-	4	840	c.419C>A	c.(418-420)gCa>gAa	p.A140E	COL4A3BP_ENST00000380494.5_Missense_Mutation_p.A268E|COL4A3BP_ENST00000261415.7_Missense_Mutation_p.A140E	NM_005713.2	NP_005704.1	Q9Y5P4	C43BP_HUMAN	collagen, type IV, alpha 3 (Goodpasture antigen) binding protein	140					cell morphogenesis (GO:0000902)|cell proliferation (GO:0008283)|ceramide metabolic process (GO:0006672)|endoplasmic reticulum organization (GO:0007029)|ER to Golgi ceramide transport (GO:0035621)|heart morphogenesis (GO:0003007)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|lipid homeostasis (GO:0055088)|mitochondrion morphogenesis (GO:0070584)|muscle contraction (GO:0006936)|protein phosphorylation (GO:0006468)|response to endoplasmic reticulum stress (GO:0034976)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)	cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ceramide binding (GO:0097001)|ceramide transporter activity (GO:0035620)|phosphatidylinositol-4-phosphate binding (GO:0070273)|protein kinase activity (GO:0004672)			breast(1)|kidney(1)|large_intestine(5)|lung(4)|skin(3)|stomach(1)|urinary_tract(1)	16		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Prostate(461;0.174)		OV - Ovarian serous cystadenocarcinoma(47;1e-53)		GTAGCCACTTGCTCCAGACAC	0.398																																						ENST00000380494.5																			0				breast(1)|kidney(1)|large_intestine(5)|lung(4)|skin(3)|stomach(1)|urinary_tract(1)	16						c.(802-804)gCa>gAa		collagen, type IV, alpha 3 (Goodpasture antigen) binding protein							106	98	101					5																	74722233		2203	4300	6503	SO:0001583	missense	10087				ER to Golgi ceramide transport|immune response	cytosol|endoplasmic reticulum membrane|Golgi apparatus	ceramide binding|phosphatidylinositol-4-phosphate binding|protein binding|protein kinase activity	g.chr5:74722233G>T	AF136450	CCDS4028.1, CCDS4029.1, CCDS47235.1	5q13.3	2013-01-10	2007-06-08	2007-06-08	ENSG00000113163	ENSG00000113163		"StAR-related lipid transfer (START) domain containing", "Pleckstrin homology (PH) domain containing"	2205	protein-coding gene	gene with protein product	"ceramide transporter", "StAR-related lipid transfer (START) domain containing 11"	604677				10212244	Standard	NM_001130105		Approved	GPBP, STARD11, CERT	uc003kdt.3	Q9Y5P4	OTTHUMG00000102068	ENST00000405807.4:c.419C>A	5.37:g.74722233G>T	ENSP00000383996:p.Ala140Glu					COL4A3BP_ENST00000405807.4_Missense_Mutation_p.A140E|COL4A3BP_ENST00000261415.7_Missense_Mutation_p.A140E	p.A268E	NM_001130105.1	NP_001123577.1	Q9Y5P4	C43BP_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;1e-53)	5	1096	-		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Prostate(461;0.174)	140					A8K7S2|B3KUB7|Q53YV1|Q53YV2|Q96Q85|Q96Q88|Q9H2S7|Q9H2S8	Missense_Mutation	SNP	ENST00000405807.4	37	c.803C>A	CCDS4028.1	.	.	.	.	.	.	.	.	.	.	G	26.0	4.693107	0.88735	.	.	ENSG00000113163	ENST00000405807;ENST00000380494;ENST00000261415	T;T;T	0.31510	1.53;1.49;1.53	5.47	4.59	0.56863	.	0.000000	0.85682	D	0.000000	T	0.38108	0.1028	L	0.44542	1.39	0.58432	D	0.999999	D;D;P	0.63880	0.979;0.993;0.554	P;P;B	0.61658	0.642;0.892;0.373	T	0.09530	-1.0670	10	0.02654	T	1	-1.5289	14.6348	0.68680	0.0715:0.0:0.9285:0.0	.	140;268;140	Q9Y5P4;Q9Y5P4-3;Q9Y5P4-2	C43BP_HUMAN;.;.	E	140;268;140	ENSP00000383996:A140E;ENSP00000369862:A268E;ENSP00000261415:A140E	ENSP00000261415:A140E	A	-	2	0	COL4A3BP	74757989	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.983000	0.88140	2.558000	0.86282	0.591000	0.81541	GCA		0.398	COL4A3BP-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219875.2	NM_005713		5	77	1	0	5.9392e-07	1	6.37114e-07	5	77					T	74722233	G	T	74722233	3	4	126	1	0	0	0	0	1	0	0	0	3692	1319	46	5	1511	5	COL4A3BP	5	74722233	Missense_Mutation	SNP	G	TCGA-EJ-A6RC-01A-11D-A32B-08	58020729	74722233	106193027	13	6596											
PPP1R10	5514	broad.mit.edu	37	chr6	30571928	30571928	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acccagggcaccttctcctcCatgttatcatggctcagacg	8	10	8	15	1	3	1	2	0	1	1	5	1	4	1	4	2	0	3	4	2	1	2			TCGA-EJ-A6RC-01A-11D-A32B-08	TCGA-EJ-A6RC-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	379affa6-98e2-459e-ac52-5ce57f69e2dd	bb8583d6-621a-4f59-87af-0a72dd30e1a6	g.chr6:30571928C>A	ENST00000376511.2	-	14	1917	c.1365G>T	c.(1363-1365)atG>atT	p.M455I		NM_002714.3	NP_002705.2	Q96QC0	PP1RA_HUMAN	protein phosphatase 1, regulatory subunit 10	455	Interaction with WDR82. {ECO:0000250}.				protein import into nucleus (GO:0006606)|transcription, DNA-templated (GO:0006351)	chromatin (GO:0000785)|nucleus (GO:0005634)|PTW/PP1 phosphatase complex (GO:0072357)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|protein phosphatase inhibitor activity (GO:0004864)			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(3)|skin(1)	25						CCTTCTCCTCCATGTTATCAT	0.557																																						ENST00000376511.2																			0				cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(3)|skin(1)	25						c.(1363-1365)atG>atT		protein phosphatase 1, regulatory subunit 10							105	113	110					6																	30571928		2203	4300	6503	SO:0001583	missense	5514				protein import into nucleus|transcription, DNA-dependent	PTW/PP1 phosphatase complex	DNA binding|protein phosphatase inhibitor activity|RNA binding|zinc ion binding	g.chr6:30571928C>A	Y13247	CCDS4681.1	6p21.3	2012-04-17	2011-10-04		ENSG00000204569	ENSG00000204569		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	9284	protein-coding gene	gene with protein product	"phosphatase 1 nuclear targeting subunit", "HLA-C associated transcript 53"	603771	"protein phosphatase 1, regulatory (inhibitor) subunit 10"			9461602, 9784381	Standard	NM_002714		Approved	PNUTS, FB19, CAT53, p99	uc003nqn.2	Q96QC0	OTTHUMG00000031259	ENST00000376511.2:c.1365G>T	6.37:g.30571928C>A	ENSP00000365694:p.Met455Ile						p.M455I	NM_002714.3	NP_002705.2	Q96QC0	PP1RA_HUMAN			14	1917	-			455			Interaction with WDR82 (By similarity).		O00405	Missense_Mutation	SNP	ENST00000376511.2	37	c.1365G>T	CCDS4681.1	.	.	.	.	.	.	.	.	.	.	C	14.91	2.677884	0.47886	.	.	ENSG00000204569	ENST00000376511	T	0.54479	0.57	4.82	4.82	0.62117	.	0.000000	0.85682	D	0.000000	T	0.58395	0.2119	L	0.50333	1.59	0.80722	D	1	P	0.49447	0.924	P	0.60682	0.878	T	0.61481	-0.7054	10	0.66056	D	0.02	-15.5691	16.8491	0.85989	0.0:1.0:0.0:0.0	.	455	Q96QC0	PP1RA_HUMAN	I	455	ENSP00000365694:M455I	ENSP00000365694:M455I	M	-	3	0	PPP1R10	30679907	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	6.875000	0.75551	2.498000	0.84270	0.467000	0.42956	ATG		0.557	PPP1R10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076556.2	NM_002714		6	144	1	0	0.217242	1	0.217242	6	144					A	30571928	C	A	30571928	3	1	126	1	0	0	0	0	1	0	0	0	12352	594	21	5	1485	5	PPP1R10	6	30571928	Missense_Mutation	SNP	C	TCGA-EJ-A6RC-01A-11D-A32B-08		30571928	140543139	14	6597											
KIAA1586	57691	broad.mit.edu	37	chr6	56918134	56918134	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	caggaaaaaaatggagaggtAaattgtttaaatacacgtta	19	10	9	3	1	0	1	0	0	0	1	0	3	0	2	0	3	1	3	0	3	9	6			TCGA-EJ-A6RC-01A-11D-A32B-08	TCGA-EJ-A6RC-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	379affa6-98e2-459e-ac52-5ce57f69e2dd	bb8583d6-621a-4f59-87af-0a72dd30e1a6	g.chr6:56918134A>G	ENST00000370733.4	+	4	1044	c.837A>G	c.(835-837)gtA>gtG	p.V279V	KIAA1586_ENST00000545356.1_Silent_p.V252V	NM_020931.2	NP_065982.1	Q9HCI6	K1586_HUMAN	KIAA1586	279							nucleic acid binding (GO:0003676)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(9)|skin(1)	18	Lung NSC(77;0.0969)		LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)			ATGGAGAGGTAAATTGTTTAA	0.303																																						ENST00000370733.4																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(9)|skin(1)	18						c.(835-837)gtA>gtG		KIAA1586							33	36	35					6																	56918134		2196	4290	6486	SO:0001819	synonymous_variant	57691						nucleic acid binding	g.chr6:56918134A>G	AB046806	CCDS34480.1, CCDS69138.1	6p12.1	2014-03-27			ENSG00000168116	ENSG00000168116			21360	protein-coding gene	gene with protein product						10997877	Standard	NM_001286274		Approved		uc003pdj.3	Q9HCI6	OTTHUMG00000014915	ENST00000370733.4:c.837A>G	6.37:g.56918134A>G						KIAA1586_ENST00000545356.1_Silent_p.V252V	p.V279V	NM_020931.2	NP_065982.1	Q9HCI6	K1586_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)		4	1044	+	Lung NSC(77;0.0969)		279					A8K4M3|Q8IW25	Silent	SNP	ENST00000370733.4	37	c.837A>G	CCDS34480.1																																																																																				0.303	KIAA1586-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041033.1	NM_020931		4	43	0	0	0	1	0	4	43					G	56918134	A	G	56918134	2	3	126	1	0	0	0	0	0	0	0	1	8245	349	13	4		4	KIAA1586	6	56918134	Silent	SNP	A	TCGA-EJ-A6RC-01A-11D-A32B-08	26346206	56918134	114196933	15	6598											
KIAA1009	22832	broad.mit.edu	37	chr6	84896094	84896094	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	taatgatgaagaattaacagTtatttttttcctcaaaatat	16	17	4	4	0	1	3	1	2	0	1	2	3	2	3	1	0	1	1	1	0	8	7			TCGA-EJ-A6RC-01A-11D-A32B-08	TCGA-EJ-A6RC-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	379affa6-98e2-459e-ac52-5ce57f69e2dd	bb8583d6-621a-4f59-87af-0a72dd30e1a6	g.chr6:84896094T>C	ENST00000403245.3	-	12	1471	c.1357A>G	c.(1357-1359)Act>Gct	p.T453A	KIAA1009_ENST00000461137.1_5'UTR|KIAA1009_ENST00000257766.4_Missense_Mutation_p.T377A	NM_014895.2	NP_055710.2														breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	43		all_cancers(76;1.5e-06)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00258)		BRCA - Breast invasive adenocarcinoma(397;0.089)		GAATTAACAGTTATTTTTTTC	0.294																																						ENST00000403245.3																			0				breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	43						c.(1357-1359)Act>Gct		KIAA1009							72	76	75					6																	84896094		2202	4292	6494	SO:0001583	missense	22832				cell division|mitosis	centrosome|nucleus|plasma membrane|spindle	protein binding	g.chr6:84896094T>C																												ENST00000403245.3:c.1357A>G	6.37:g.84896094T>C	ENSP00000385215:p.Thr453Ala					KIAA1009_ENST00000257766.4_Missense_Mutation_p.T377A|KIAA1009_ENST00000461137.1_5'UTR	p.T453A	NM_014895.2	NP_055710.2	Q5TB80	QN1_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.089)	12	1471	-		all_cancers(76;1.5e-06)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00258)	453						Missense_Mutation	SNP	ENST00000403245.3	37	c.1357A>G	CCDS34494.2	.	.	.	.	.	.	.	.	.	.	t	0.374	-0.932627	0.02359	.	.	ENSG00000135315	ENST00000257766;ENST00000403245	T;T	0.16597	2.33;2.33	5.54	1.67	0.24075	.	0.195141	0.36893	N	0.002354	T	0.01061	0.0035	N	0.02011	-0.69	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.42982	-0.9419	10	0.11485	T	0.65	-8.3741	1.2836	0.02046	0.5425:0.1525:0.1582:0.1468	.	453;453	Q5TB80;C9JFM9	QN1_HUMAN;.	A	377;453	ENSP00000257766:T377A;ENSP00000385215:T453A	ENSP00000257766:T377A	T	-	1	0	KIAA1009	84952813	0.001000	0.12720	0.049000	0.19019	0.012000	0.07955	-0.004000	0.12878	0.533000	0.28675	-1.037000	0.02385	ACT		0.294	KIAA1009-004	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317315.1			5	72	0	0	0	1	0	5	72					C	84896094	T	C	84896094	3	2	126	1	0	0	0	0	1	0	0	0	8203	1725	60	4	2918	4	KIAA1009	6	84896094	Missense_Mutation	SNP	T	TCGA-EJ-A6RC-01A-11D-A32B-08	27977960	84896094	86218973	16	6599											
CSMD1	64478	broad.mit.edu	37	chr8	3263667	3263667	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cagtggaaagaaaccgagctCccgagtagaaacctgtcacc	14	5	10	12	2	1	2	1	0	0	2	2	5	2	3	4	1	3	2	4	1	4	1			TCGA-EJ-A6RC-01A-11D-A32B-08	TCGA-EJ-A6RC-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	379affa6-98e2-459e-ac52-5ce57f69e2dd	bb8583d6-621a-4f59-87af-0a72dd30e1a6	g.chr8:3263667C>T	ENST00000520002.1	-	16	2706	c.2151G>A	c.(2149-2151)ggG>ggA	p.G717G	CSMD1_ENST00000542608.1_Silent_p.G716G|CSMD1_ENST00000539096.1_Silent_p.G716G|CSMD1_ENST00000602557.1_Silent_p.G717G|CSMD1_ENST00000537824.1_Silent_p.G716G|CSMD1_ENST00000602723.1_Silent_p.G717G|CSMD1_ENST00000400186.3_Silent_p.G717G			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	717	Sushi 4. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		AAACCGAGCTCCCGAGTAGAA	0.478																																						ENST00000520002.1																			0				breast(20)|large_intestine(5)	25						c.(2149-2151)ggG>ggA		CUB and Sushi multiple domains 1							51	52	52					8																	3263667		1911	4129	6040	SO:0001819	synonymous_variant	64478					integral to membrane		g.chr8:3263667C>T			8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	14026	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 24"	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.2151G>A	8.37:g.3263667C>T						CSMD1_ENST00000539096.1_Silent_p.G716G|CSMD1_ENST00000537824.1_Silent_p.G716G|CSMD1_ENST00000602723.1_Silent_p.G717G|CSMD1_ENST00000400186.3_Silent_p.G717G|CSMD1_ENST00000602557.1_Silent_p.G717G|CSMD1_ENST00000542608.1_Silent_p.G716G	p.G717G			Q96PZ7	CSMD1_HUMAN		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)	16	2706	-		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)	717			Sushi 4.		Q0H0J5|Q96QU9|Q96RM4	Silent	SNP	ENST00000520002.1	37	c.2151G>A		.	.	.	.	.	.	.	.	.	.	C	1.920	-0.448649	0.04572	.	.	ENSG00000183117	ENST00000335551	.	.	.	5.46	-6.07	0.02158	.	.	.	.	.	T	0.39436	0.1078	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.41484	-0.9506	4	.	.	.	.	4.2441	0.10663	0.105:0.1024:0.4595:0.333	.	.	.	.	K	197	.	.	E	-	1	0	CSMD1	3251074	0.986000	0.35501	0.441000	0.26858	0.105000	0.19272	0.107000	0.15375	-1.051000	0.03226	-0.890000	0.02929	GAG		0.478	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000374500.2	NM_033225		3	18	0	0	0	1	0	3	18					T	3263667	C	T	3263667	2	4	126	1	0	0	0	0	0	0	0	1	3944	842	30	3		3	CSMD1	8	3263667	Silent	SNP	C	TCGA-EJ-A6RC-01A-11D-A32B-08		3263667	143100355	17	6600											
DCAF4L2	138009	broad.mit.edu	37	chr8	88885613	88885613	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtactgaaagagtgatacGcgtggatgctcagggaccag	11	8	14	8	2	1	3	1	2	0	1	1	5	1	5	1	2	3	2	1	2	3	2			TCGA-EJ-A6RC-01A-11D-A32B-08	TCGA-EJ-A6RC-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	379affa6-98e2-459e-ac52-5ce57f69e2dd	bb8583d6-621a-4f59-87af-0a72dd30e1a6	g.chr8:88885613G>A	ENST00000319675.3	-	1	683	c.587C>T	c.(586-588)gCg>gTg	p.A196V		NM_152418.3	NP_689631.1	Q8NA75	DC4L2_HUMAN	DDB1 and CUL4 associated factor 4-like 2	196										breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	83						AGAGTGATACGCGTGGATGCT	0.557																																						ENST00000319675.3																			0				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	83						c.(586-588)gCg>gTg		DDB1 and CUL4 associated factor 4-like 2							166	147	153					8																	88885613		2203	4300	6503	SO:0001583	missense	138009							g.chr8:88885613G>A	AL833507	CCDS6245.1	8q21.3	2013-01-09	2009-07-17	2009-07-17		ENSG00000176566		"WD repeat domain containing"	26657	protein-coding gene	gene with protein product			"WD repeat domain 21C"	WDR21C		14702039	Standard	NM_152418		Approved		uc003ydz.3	Q8NA75		ENST00000319675.3:c.587C>T	8.37:g.88885613G>A	ENSP00000316496:p.Ala196Val						p.A196V	NM_152418.3	NP_689631.1	Q8NA75	DC4L2_HUMAN			1	683	-			196						Missense_Mutation	SNP	ENST00000319675.3	37	c.587C>T	CCDS6245.1	.	.	.	.	.	.	.	.	.	.	G	3.066	-0.192178	0.06299	.	.	ENSG00000176566	ENST00000319675	T	0.70631	-0.5	1.39	0.342	0.15996	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.277345	0.41938	D	0.000784	T	0.55081	0.1898	L	0.52364	1.645	0.09310	N	1	P	0.39352	0.669	B	0.36808	0.233	T	0.44483	-0.9325	10	0.23891	T	0.37	.	5.2186	0.15356	0.0:0.3721:0.6279:0.0	.	196	Q8NA75	DC4L2_HUMAN	V	196	ENSP00000316496:A196V	ENSP00000316496:A196V	A	-	2	0	DCAF4L2	88954729	1.000000	0.71417	0.000000	0.03702	0.009000	0.06853	2.161000	0.42358	-0.111000	0.12001	0.467000	0.42956	GCG		0.557	DCAF4L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375302.1	NM_152418		5	108	0	0	0	1	0	5	108					A	88885613	G	A	88885613	3	1	126	1	0	0	0	0	1	0	0	0	4272	1087	38	1	604	1	DCAF4L2	8	88885613	Missense_Mutation	SNP	G	TCGA-EJ-A6RC-01A-11D-A32B-08	85621946	88885613	57478409	18	6601											
UBQLN1	29979	broad.mit.edu	37	chr9	86293436	86293436	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	attatatccccctgggatgcTttctaggttgctcaaagctc	8	14	8	11	0	2	0	1	0	1	0	4	1	3	1	2	2	3	4	2	2	4	5			TCGA-EJ-A6RC-01A-11D-A32B-08	TCGA-EJ-A6RC-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	379affa6-98e2-459e-ac52-5ce57f69e2dd	bb8583d6-621a-4f59-87af-0a72dd30e1a6	g.chr9:86293436T>G	ENST00000376395.4	-	5	1313	c.790A>C	c.(790-792)Agc>Cgc	p.S264R	UBQLN1_ENST00000257468.7_Missense_Mutation_p.S264R	NM_013438.4|NM_053067.2	NP_038466.2|NP_444295.1	Q9UMX0	UBQL1_HUMAN	ubiquilin 1	264					cellular response to hypoxia (GO:0071456)|regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902175)|regulation of protein ubiquitination (GO:0031396)|response to endoplasmic reticulum stress (GO:0034976)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|proteasome complex (GO:0000502)|protein complex (GO:0043234)	kinase binding (GO:0019900)			breast(4)|endometrium(2)|kidney(4)|large_intestine(6)|lung(10)|prostate(1)	27						CCTGGGATGCTTTCTAGGTTG	0.473																																					Melanoma(186;1284 2073 12755 14558 18426)	ENST00000376395.4																			0				breast(4)|endometrium(2)|kidney(4)|large_intestine(6)|lung(10)|prostate(1)	27						c.(790-792)Agc>Cgc		ubiquilin 1							330	330	330					9																	86293436		2203	4300	6503	SO:0001583	missense	29979				apoptosis|regulation of protein ubiquitination|response to hypoxia	endoplasmic reticulum|nucleus|perinuclear region of cytoplasm|proteasome complex	kinase binding	g.chr9:86293436T>G	AF176069	CCDS6663.1, CCDS6664.1	9q22	2013-02-12			ENSG00000135018	ENSG00000135018		"Ubiquilin family"	12508	protein-coding gene	gene with protein product		605046				9303440, 10807547	Standard	NM_013438		Approved	DSK2, PLIC-1, XDRP1, DA41	uc004amv.3	Q9UMX0	OTTHUMG00000020104	ENST00000376395.4:c.790A>C	9.37:g.86293436T>G	ENSP00000365576:p.Ser264Arg					UBQLN1_ENST00000257468.7_Missense_Mutation_p.S264R	p.S264R	NM_013438.4|NM_053067.2	NP_038466.2|NP_444295.1	Q9UMX0	UBQL1_HUMAN			5	1313	-			264					Q5T6J5|Q5T6J9|Q8IXS9|Q8N2Q3|Q9H0T8|Q9H3R4|Q9HAZ5	Missense_Mutation	SNP	ENST00000376395.4	37	c.790A>C	CCDS6663.1	.	.	.	.	.	.	.	.	.	.	T	29.7	5.028285	0.93518	.	.	ENSG00000135018	ENST00000376395;ENST00000257468;ENST00000529923	T;T;T	0.80824	-1.42;-1.42;-1.42	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	D	0.90930	0.7149	M	0.87900	2.915	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.87578	0.998;0.993	D	0.92471	0.5985	10	0.87932	D	0	.	15.9736	0.80040	0.0:0.0:0.0:1.0	.	264;264	Q9UMX0-2;Q9UMX0	.;UBQL1_HUMAN	R	264;264;61	ENSP00000365576:S264R;ENSP00000257468:S264R;ENSP00000434194:S61R	ENSP00000257468:S264R	S	-	1	0	UBQLN1	85483256	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.635000	0.83286	2.165000	0.68154	0.533000	0.62120	AGC		0.473	UBQLN1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000052834.1	NM_013438		12	417	0	0	0	1	0	12	417					G	86293436	T	G	86293436	3	3	126	1	0	0	0	0	1	0	0	0	16893	1609	56	5	1007	5	UBQLN1	9	86293436	Missense_Mutation	SNP	T	TCGA-EJ-A6RC-01A-11D-A32B-08		86293436	54919995	19	6602											
TAF3	83860	broad.mit.edu	37	chr10	8006929	8006929	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tgggaacaccttcaaatatgCcccccaactttccttatatc	11	12	4	14	0	1	0	1	0	0	0	3	1	2	1	5	1	3	0	5	1	6	5			TCGA-EJ-A6RC-01A-11D-A32B-08	TCGA-EJ-A6RC-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	379affa6-98e2-459e-ac52-5ce57f69e2dd	bb8583d6-621a-4f59-87af-0a72dd30e1a6	g.chr10:8006929C>T	ENST00000344293.5	+	3	1662	c.1456C>T	c.(1456-1458)Ccc>Tcc	p.P486S		NM_031923.3	NP_114129.1	Q5VWG9	TAF3_HUMAN	TAF3 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 140kDa	486					maintenance of protein location in nucleus (GO:0051457)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)	zinc ion binding (GO:0008270)			NS(2)|breast(4)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(3)|prostate(4)|skin(2)	40						TTCAAATATGCCCCCCAACTT	0.488																																						ENST00000344293.5																			0				NS(2)|breast(4)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(3)|prostate(4)|skin(2)	40						c.(1456-1458)Ccc>Tcc		TAF3 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 140kDa							104	103	103					10																	8006929		1926	4123	6049	SO:0001583	missense	83860				maintenance of protein location in nucleus|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	transcription factor TFIID complex	protein binding|zinc ion binding	g.chr10:8006929C>T	AJ292190	CCDS41487.1	10p15.1	2013-01-28	2002-08-29		ENSG00000165632	ENSG00000165632		"Zinc fingers, PHD-type"	17303	protein-coding gene	gene with protein product		606576	"TAF3 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 140 kD"			11438666, 18549481	Standard	NM_031923		Approved	TAF140, TAFII140	uc010qbd.3	Q5VWG9	OTTHUMG00000017643	ENST00000344293.5:c.1456C>T	10.37:g.8006929C>T	ENSP00000340271:p.Pro486Ser						p.P486S	NM_031923.3	NP_114129.1	Q5VWG9	TAF3_HUMAN			3	1662	+			486					Q05DA0|Q6GMS5|Q6P6B5|Q86VY6|Q9BQS9|Q9UFI8	Missense_Mutation	SNP	ENST00000344293.5	37	c.1456C>T	CCDS41487.1	.	.	.	.	.	.	.	.	.	.	C	13.39	2.223998	0.39300	.	.	ENSG00000165632	ENST00000344293	T	0.34859	1.34	5.62	4.72	0.59763	.	0.000000	0.64402	D	0.000003	T	0.53594	0.1806	M	0.80183	2.485	0.80722	D	1	D	0.56746	0.977	P	0.54460	0.753	T	0.56836	-0.7913	10	0.33940	T	0.23	-14.7526	14.6258	0.68621	0.0:0.93:0.0:0.07	.	486	Q5VWG9	TAF3_HUMAN	S	486	ENSP00000340271:P486S	ENSP00000340271:P486S	P	+	1	0	TAF3	8046935	1.000000	0.71417	0.983000	0.44433	0.035000	0.12851	4.211000	0.58507	1.389000	0.46526	0.650000	0.86243	CCC		0.488	TAF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046725.1	NM_031923		4	104	0	0	0	1	0	4	104					T	8006929	C	T	8006929	3	4	126	1	0	0	0	0	1	0	0	0	15522	739	26	3	1466	3	TAF3	10	8006929	Missense_Mutation	SNP	C	TCGA-EJ-A6RC-01A-11D-A32B-08		8006929	127527818	20	6603											
JMJD1C	221037	broad.mit.edu	37	chr10	64936221	64936221	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tggtagaacttcaaggccttGttcttttgaaatctgaaata	12	15	8	6	0	3	3	1	2	2	1	3	3	3	3	1	2	1	2	1	2	6	7			TCGA-EJ-A6RC-01A-11D-A32B-08	TCGA-EJ-A6RC-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	379affa6-98e2-459e-ac52-5ce57f69e2dd	bb8583d6-621a-4f59-87af-0a72dd30e1a6	g.chr10:64936221G>A	ENST00000399262.2	-	24	7455	c.7237C>T	c.(7237-7239)Caa>Taa	p.Q2413*	JMJD1C_ENST00000402544.1_Nonsense_Mutation_p.Q2176*|JMJD1C_ENST00000399251.1_3'UTR|JMJD1C_ENST00000542921.1_Nonsense_Mutation_p.Q2231*	NM_032776.1	NP_116165.1	Q15652	JHD2C_HUMAN	jumonji domain containing 1C	2413	JmjC. {ECO:0000255|PROSITE- ProRule:PRU00538}.				blood coagulation (GO:0007596)|chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	intracellular (GO:0005622)|nucleoplasm (GO:0005654)	dioxygenase activity (GO:0051213)|metal ion binding (GO:0046872)|thyroid hormone receptor binding (GO:0046966)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	77	Prostate(12;0.0119)|all_hematologic(501;0.191)					TCAAGGCCTTGTTCTTTTGAA	0.333																																						ENST00000399262.2																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	77						c.(7237-7239)Caa>Taa		jumonji domain containing 1C							97	87	90					10																	64936221		1824	4074	5898	SO:0001587	stop_gained	221037				blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding	g.chr10:64936221G>A	L40411	CCDS41532.1, CCDS60538.1	10q22.1	2011-05-25	2004-03-31	2004-04-01	ENSG00000171988	ENSG00000171988			12313	protein-coding gene	gene with protein product		604503	"thyroid hormone receptor interactor 8"	TRIP8		7776974	Standard	XM_005269624		Approved	DKFZp761F0118, KIAA1380, FLJ14374	uc001jmn.3	Q15652	OTTHUMG00000018311	ENST00000399262.2:c.7237C>T	10.37:g.64936221G>A	ENSP00000382204:p.Gln2413*					JMJD1C_ENST00000542921.1_Nonsense_Mutation_p.Q2231*|JMJD1C_ENST00000399251.1_3'UTR|JMJD1C_ENST00000402544.1_Nonsense_Mutation_p.Q2176*	p.Q2413*	NM_032776.1	NP_116165.1	Q15652	JHD2C_HUMAN			24	7455	-	Prostate(12;0.0119)|all_hematologic(501;0.191)		2413			JmjC.		A0T124|Q5SQZ8|Q5SQZ9|Q5SR00|Q7Z3E7|Q8N3U0|Q96KB9|Q9P2G7	Nonsense_Mutation	SNP	ENST00000399262.2	37	c.7237C>T	CCDS41532.1	.	.	.	.	.	.	.	.	.	.	G	50	16.100200	0.99854	.	.	ENSG00000171988	ENST00000399262;ENST00000402544;ENST00000542921	.	.	.	5.57	5.57	0.84162	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.46703	T	0.11	-7.7266	19.1459	0.93467	0.0:0.0:1.0:0.0	.	.	.	.	X	2413;2176;2231	.	ENSP00000382204:Q2413X	Q	-	1	0	JMJD1C	64606227	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.596000	0.82721	2.617000	0.88574	0.655000	0.94253	CAA		0.333	JMJD1C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048249.2	NM_004241		4	48	0	0	0	1	0	4	48					A	64936221	G	A	64936221	4	1	126	1	0	0	0	0	0	1	0	0	7950	1386	48	3	397	3	JMJD1C	10	64936221	Nonsense_Mutation	SNP	G	TCGA-EJ-A6RC-01A-11D-A32B-08	56929292	64936221	70598526	21	6604											
MORN4	118812	broad.mit.edu	37	chr10	99376504	99376504	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcatatcgaatgaagactcCgacgccattaaacttgccct	12	10	7	12	3	1	2	1	1	0	1	3	4	2	2	3	0	2	0	3	0	5	3	rs181071367		TCGA-EJ-A6RC-01A-11D-A32B-08	TCGA-EJ-A6RC-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	379affa6-98e2-459e-ac52-5ce57f69e2dd	bb8583d6-621a-4f59-87af-0a72dd30e1a6	g.chr10:99376504C>T	ENST00000307450.6	-	4	386	c.223G>A	c.(223-225)Gga>Aga	p.G75R	PI4K2A_ENST00000555577.1_Intron|MORN4_ENST00000478953.1_Intron|MORN4_ENST00000335628.3_Missense_Mutation_p.G133R|PI4K2A_ENST00000370649.3_Intron	NM_001098831.1|NM_178832.3	NP_001092301.1|NP_849154.1	Q8NDC4	MORN4_HUMAN	MORN repeat containing 4	75										large_intestine(1)|lung(1)|stomach(2)	4						ATGAAGACTCCGACGCCATTA	0.473													C|||	1	0.000199681	0	0.0014	5008	,	,		19923	0		0	False		,,,				2504	0					ENST00000335628.3																			0				large_intestine(1)|lung(1)|stomach(2)	4						c.(397-399)Gga>Aga		MORN repeat containing 4							133	130	131					10																	99376504		2203	4300	6503	SO:0001583	missense	118812							g.chr10:99376504C>T	AJ431726	CCDS7468.1	10q24.2	2008-06-23	2008-06-23	2008-06-23	ENSG00000171160	ENSG00000171160			24001	protein-coding gene	gene with protein product	"44050 protein"		"chromosome 10 open reading frame 83"	C10orf83		12477932	Standard	NM_178832		Approved	bA548K23.4, FLJ25925	uc001koe.3	Q8NDC4	OTTHUMG00000018861	ENST00000307450.6:c.223G>A	10.37:g.99376504C>T	ENSP00000307636:p.Gly75Arg					MORN4_ENST00000478953.1_Intron|MORN4_ENST00000307450.6_Missense_Mutation_p.G75R|PI4K2A_ENST00000555577.1_Intron|PI4K2A_ENST00000370649.3_Intron	p.G133R			Q8NDC4	MORN4_HUMAN			3	396	-			75					Q86Y54	Missense_Mutation	SNP	ENST00000307450.6	37	c.397G>A	CCDS7468.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	27.2	4.808617	0.90707	.	.	ENSG00000171160	ENST00000307450;ENST00000515674;ENST00000335628	D;D	0.95885	-3.84;-3.84	5.71	4.81	0.61882	.	0.163302	0.56097	N	0.000040	D	0.98820	0.9602	H	0.99391	4.545	0.80722	D	1	P;D	0.89917	0.894;1.0	B;D	0.97110	0.215;1.0	D	0.98928	1.0786	10	0.87932	D	0	-23.3326	14.2508	0.66019	0.0:0.9291:0.0:0.0709	.	133;75	Q8NDC4-2;Q8NDC4	.;MORN4_HUMAN	R	75;75;133	ENSP00000307636:G75R;ENSP00000335498:G133R	ENSP00000307636:G75R	G	-	1	0	MORN4	99366494	1.000000	0.71417	0.918000	0.36340	0.987000	0.75469	7.729000	0.84864	1.419000	0.47118	0.561000	0.74099	GGA		0.473	MORN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049730.1	NM_178832		11	106	0	0	0	1	0	11	106					T	99376504	C	T	99376504	3	4	126	1	0	0	0	0	1	0	0	0	9710	661	23	2	225	2	MORN4	10	99376504	Missense_Mutation	SNP	C	TCGA-EJ-A6RC-01A-11D-A32B-08	34440283	99376504	36158243	22	6605											
ANO5	203859	broad.mit.edu	37	chr11	22239825	22239825	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaatttgttcctgaggcggCggcttatggtaaaaccagtg	9	12	12	8	2	1	1	1	1	0	0	2	1	2	1	2	4	1	3	2	4	4	4	rs201725369		TCGA-EJ-A6RC-01A-11D-A32B-08	TCGA-EJ-A6RC-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	379affa6-98e2-459e-ac52-5ce57f69e2dd	bb8583d6-621a-4f59-87af-0a72dd30e1a6	g.chr11:22239825C>T	ENST00000324559.8	+	4	489	c.172C>T	c.(172-174)Cgg>Tgg	p.R58W		NM_001142649.1|NM_213599.2	NP_001136121.1|NP_998764.1	Q75V66	ANO5_HUMAN	anoctamin 5	58			R -> W (found in a patient with hyper-CK- emia and a neurasthenic syndrome; unknown pathological significance; dbSNP:rs201725369). {ECO:0000269|PubMed:22499103}.		chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	intracellular calcium activated chloride channel activity (GO:0005229)			breast(2)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(12)|lung(36)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						CCTGAGGCGGCGGCTTATGGT	0.408													C|||	1	0.000199681	0	0.0014	5008	,	,		15559	0		0	False		,,,				2504	0					ENST00000324559.8																			0				breast(2)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(12)|lung(36)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						c.(172-174)Cgg>Tgg		anoctamin 5		C	TRP/ARG,TRP/ARG	0,4406		0,0,2203	142	131	135		169,172	5.9	1	11		135	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	ANO5	NM_001142649.1,NM_213599.2	101,101	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging	57/913,58/914	22239825	1,13005	2203	4300	6503	SO:0001583	missense	203859					chloride channel complex|endoplasmic reticulum membrane	chloride channel activity	g.chr11:22239825C>T	AL833271	CCDS31444.1	11p15.1	2014-09-17	2008-08-28	2008-08-28	ENSG00000171714	ENSG00000171714		"Ion channels / Chloride channels : Calcium activated : Anoctamins"	27337	protein-coding gene	gene with protein product		608662	"transmembrane protein 16E", "limb girdle muscular dystrophy 2L (autosomal recessive)"	TMEM16E, LGMD2L		15067359, 20096397, 24692353	Standard	NM_213599		Approved	GDD1	uc001mqi.2	Q75V66	OTTHUMG00000166051	ENST00000324559.8:c.172C>T	11.37:g.22239825C>T	ENSP00000315371:p.Arg58Trp						p.R58W	NM_001142649.1|NM_213599.2	NP_001136121.1|NP_998764.1	Q75V66	ANO5_HUMAN			4	489	+			58						Missense_Mutation	SNP	ENST00000324559.8	37	c.172C>T	CCDS31444.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	27.4	4.828622	0.90955	0.0	1.16E-4	ENSG00000171714	ENST00000324559	T	0.72615	-0.67	5.87	5.87	0.94306	.	0.235104	0.44097	D	0.000497	D	0.83667	0.5304	M	0.61703	1.905	0.46222	D	0.998931	D	0.89917	1.0	D	0.87578	0.998	D	0.83822	0.0247	10	0.72032	D	0.01	.	20.2192	0.98319	0.0:1.0:0.0:0.0	.	58	Q75V66	ANO5_HUMAN	W	58	ENSP00000315371:R58W	ENSP00000315371:R58W	R	+	1	2	ANO5	22196401	1.000000	0.71417	0.978000	0.43139	0.877000	0.50540	5.059000	0.64306	2.780000	0.95670	0.655000	0.94253	CGG		0.408	ANO5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387615.1	NM_213599		5	47	0	0	0	1	0	5	47					T	22239825	C	T	22239825	3	4	126	1	0	0	0	0	1	0	0	0	700	759	27	1	186	1	ANO5	11	22239825	Missense_Mutation	SNP	C	TCGA-EJ-A6RC-01A-11D-A32B-08		22239825	112766691	23	6606											
NAT10	55226	broad.mit.edu	37	chr11	34162694	34162694	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggaccagctggaaaaggagaTtgagctgccctcgggccagt	10	6	15	10	1	0	2	0	1	0	1	1	5	0	4	3	4	3	2	3	4	2	1			TCGA-EJ-A6RC-01A-11D-A32B-08	TCGA-EJ-A6RC-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	379affa6-98e2-459e-ac52-5ce57f69e2dd	bb8583d6-621a-4f59-87af-0a72dd30e1a6	g.chr11:34162694T>C	ENST00000257829.3	+	25	2857	c.2651T>C	c.(2650-2652)aTt>aCt	p.I884T	NAT10_ENST00000531159.2_Missense_Mutation_p.I812T|NAT10_ENST00000527971.1_Intron	NM_024662.2	NP_078938	Q9H0A0	NAT10_HUMAN	N-acetyltransferase 10 (GCN5-related)	884	Required for localization to the nucleolus and midbody.					membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|N-acetyltransferase activity (GO:0008080)|poly(A) RNA binding (GO:0044822)			endometrium(4)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	23		Acute lymphoblastic leukemia(5;0.0119)|all_hematologic(20;0.0231)				GAAAAGGAGATTGAGCTGCCC	0.542																																						ENST00000257829.3																			0				endometrium(4)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	23						c.(2650-2652)aTt>aCt		N-acetyltransferase 10 (GCN5-related)							184	175	178					11																	34162694		2202	4298	6500	SO:0001583	missense	55226					nucleolus	ATP binding|N-acetyltransferase activity|protein binding	g.chr11:34162694T>C	AF489535	CCDS7889.1, CCDS44568.1	11p13	2011-11-16	2008-09-24		ENSG00000135372	ENSG00000135372	2.3.1.-		29830	protein-coding gene	gene with protein product		609221	"N-acetyltransferase 10"			14592445, 21177859	Standard	NM_024662		Approved	hALP, FLJ10774, FLJ12179, NET43, KIAA1709	uc001mvk.3	Q9H0A0	OTTHUMG00000166249	ENST00000257829.3:c.2651T>C	11.37:g.34162694T>C	ENSP00000257829:p.Ile884Thr					NAT10_ENST00000531159.2_Missense_Mutation_p.I812T|NAT10_ENST00000527971.1_Intron	p.I884T	NM_024662.2	NP_078938.2	Q9H0A0	NAT10_HUMAN			25	2857	+		Acute lymphoblastic leukemia(5;0.0119)|all_hematologic(20;0.0231)	884			Required for localization to the nucleolus and midbody.		B4DFD5|E7ESU4|E9PMN9|Q86WK5|Q9C0F4|Q9HA61|Q9NVF2	Missense_Mutation	SNP	ENST00000257829.3	37	c.2651T>C	CCDS7889.1	.	.	.	.	.	.	.	.	.	.	t	16.31	3.088411	0.55968	.	.	ENSG00000135372	ENST00000257829;ENST00000531159	T;T	0.32023	1.47;1.47	5.65	4.52	0.55395	.	0.150532	0.64402	N	0.000015	T	0.32285	0.0824	M	0.63843	1.955	0.80722	D	1	B	0.16166	0.016	B	0.16722	0.016	T	0.09707	-1.0662	10	0.62326	D	0.03	-9.8722	11.437	0.50074	0.0:0.0705:0.0:0.9295	.	884	Q9H0A0	NAT10_HUMAN	T	884;812	ENSP00000257829:I884T;ENSP00000433011:I812T	ENSP00000257829:I884T	I	+	2	0	NAT10	34119270	1.000000	0.71417	0.900000	0.35374	0.992000	0.81027	6.287000	0.72671	0.970000	0.38263	0.454000	0.30748	ATT		0.542	NAT10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388693.1	NM_024662		7	210	0	0	0	1	0	7	210					C	34162694	T	C	34162694	3	2	126	1	0	0	0	0	1	0	0	0	10174	1493	52	4	2745	4	NAT10	11	34162694	Missense_Mutation	SNP	T	TCGA-EJ-A6RC-01A-11D-A32B-08	11922869	34162694	100843822	24	6607											
KCNE3	10008	broad.mit.edu	37	chr11	74168562	74168562	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	catttagagccttcagcacgGcatgcaggctctcataccag	10	9	9	13	1	2	1	2	0	1	1	3	1	2	1	2	2	4	4	2	2	2	4			TCGA-EJ-A6RC-01A-11D-A32B-08	TCGA-EJ-A6RC-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	379affa6-98e2-459e-ac52-5ce57f69e2dd	bb8583d6-621a-4f59-87af-0a72dd30e1a6	g.chr11:74168562G>A	ENST00000310128.4	-	3	466	c.47C>T	c.(46-48)gCc>gTc	p.A16V	KCNE3_ENST00000525550.1_Missense_Mutation_p.A16V|RP11-702H23.4_ENST00000533008.1_RNA|RP11-702H23.6_ENST00000530510.1_RNA	NM_005472.4	NP_005463.1	Q9Y6H6	KCNE3_HUMAN	potassium voltage-gated channel, Isk-related family, member 3	16					regulation of potassium ion transport (GO:0043266)	integral component of membrane (GO:0016021)	potassium channel regulator activity (GO:0015459)|voltage-gated potassium channel activity (GO:0005249)			cervix(1)|large_intestine(1)|lung(1)|ovary(1)	4	Breast(11;2.86e-06)					CTTCAGCACGGCATGCAGGCT	0.577																																						ENST00000310128.4																			0				cervix(1)|large_intestine(1)|lung(1)|ovary(1)	4						c.(46-48)gCc>gTc		potassium voltage-gated channel, Isk-related family, member 3							80	75	77					11																	74168562		2200	4293	6493	SO:0001583	missense	10008					integral to membrane	voltage-gated potassium channel activity	g.chr11:74168562G>A	AF076531	CCDS8232.1	11q13.4	2014-09-17				ENSG00000175538		"Potassium channels"	6243	protein-coding gene	gene with protein product		604433				10219239	Standard	NM_005472		Approved	MiRP2, HOKPP	uc001ovc.3	Q9Y6H6		ENST00000310128.4:c.47C>T	11.37:g.74168562G>A	ENSP00000310557:p.Ala16Val					KCNE3_ENST00000525550.1_Missense_Mutation_p.A16V|RP11-702H23.4_ENST00000533008.1_RNA	p.A16V	NM_005472.4	NP_005463.1	Q9Y6H6	KCNE3_HUMAN			3	466	-	Breast(11;2.86e-06)		16						Missense_Mutation	SNP	ENST00000310128.4	37	c.47C>T	CCDS8232.1	.	.	.	.	.	.	.	.	.	.	G	9.454	1.091237	0.20471	.	.	ENSG00000175538	ENST00000310128;ENST00000525550;ENST00000532569;ENST00000531854;ENST00000529425	D;D;D;D;T	0.86694	-2.16;-2.16;-2.16;-1.54;-1.16	4.94	4.0	0.46444	.	0.714894	0.13411	N	0.389917	T	0.77301	0.4110	N	0.19112	0.55	0.09310	N	0.999995	B	0.20052	0.041	B	0.21917	0.037	T	0.65047	-0.6263	10	0.35671	T	0.21	1.8215	8.2818	0.31904	0.0:0.172:0.6501:0.1779	.	16	Q9Y6H6	KCNE3_HUMAN	V	16	ENSP00000310557:A16V;ENSP00000433633:A16V;ENSP00000431739:A16V;ENSP00000433697:A16V;ENSP00000434890:A16V	ENSP00000310557:A16V	A	-	2	0	KCNE3	73846210	0.040000	0.19996	0.816000	0.32577	0.054000	0.15201	2.475000	0.45162	1.370000	0.46153	0.462000	0.41574	GCC		0.577	KCNE3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385531.1	NM_005472		4	62	0	0	0	1	0	4	62					A	74168562	G	A	74168562	3	1	126	1	0	0	0	0	1	0	0	0	8024	1203	42	3	268	3	KCNE3	11	74168562	Missense_Mutation	SNP	G	TCGA-EJ-A6RC-01A-11D-A32B-08	40005868	74168562	60837954	25	6608											
ATF7IP	55729	broad.mit.edu	37	chr12	14613530	14613530	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tcacagcaacgtcagttcttCctgcacccaatacagctact	11	10	5	15	1	3	0	2	0	1	0	4	0	4	0	2	0	6	4	2	0	4	4			TCGA-EJ-A6RC-01A-11D-A32B-08	TCGA-EJ-A6RC-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	379affa6-98e2-459e-ac52-5ce57f69e2dd	bb8583d6-621a-4f59-87af-0a72dd30e1a6	g.chr12:14613530C>T	ENST00000540793.1	+	8	2415	c.2260C>T	c.(2260-2262)Cct>Tct	p.P754S	ATF7IP_ENST00000541654.1_3'UTR|ATF7IP_ENST00000543189.1_Missense_Mutation_p.P753S|ATF7IP_ENST00000536444.1_Missense_Mutation_p.P753S|ATF7IP_ENST00000544627.1_Missense_Mutation_p.P762S|ATF7IP_ENST00000261168.4_Missense_Mutation_p.P754S			Q6VMQ6	MCAF1_HUMAN	activating transcription factor 7 interacting protein	754	Interaction with SETDB1.				DNA methylation (GO:0006306)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of RNA polymerase II transcriptional preinitiation complex assembly (GO:0045898)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	nucleus (GO:0005634)				cervix(1)|endometrium(7)|kidney(5)|large_intestine(10)|liver(2)|lung(22)|ovary(1)|prostate(4)|skin(1)|urinary_tract(1)	54						GTCAGTTCTTCCTGCACCCAA	0.473																																						ENST00000544627.1																			0				cervix(1)|endometrium(7)|kidney(5)|large_intestine(10)|liver(2)|lung(22)|ovary(1)|prostate(4)|skin(1)|urinary_tract(1)	54						c.(2284-2286)Cct>Tct		activating transcription factor 7 interacting protein							138	131	134					12																	14613530		2203	4300	6503	SO:0001583	missense	55729				DNA methylation|interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|regulation of RNA polymerase II transcriptional preinitiation complex assembly|transcription, DNA-dependent		protein binding	g.chr12:14613530C>T	AJ242978	CCDS8663.1, CCDS66326.1, CCDS66327.1, CCDS73449.1	12p13.1	2005-11-18				ENSG00000171681			20092	protein-coding gene	gene with protein product		613644				10976766, 10777215	Standard	XM_005253424		Approved	FLJ10688, p621	uc001rbw.3	Q6VMQ6		ENST00000540793.1:c.2260C>T	12.37:g.14613530C>T	ENSP00000444589:p.Pro754Ser					ATF7IP_ENST00000540793.1_Missense_Mutation_p.P754S|ATF7IP_ENST00000261168.4_Missense_Mutation_p.P754S|ATF7IP_ENST00000541654.1_3'UTR|ATF7IP_ENST00000536444.1_Missense_Mutation_p.P753S|ATF7IP_ENST00000543189.1_Missense_Mutation_p.P753S	p.P762S			Q6VMQ6	MCAF1_HUMAN			9	2604	+			754			Interaction with SETDB1.		F5GX74|G3V1U0|Q4G0T9|Q6P3T3|Q86XW5|Q9NVJ9|Q9NWC2|Q9Y4X8	Missense_Mutation	SNP	ENST00000540793.1	37	c.2284C>T	CCDS8663.1	.	.	.	.	.	.	.	.	.	.	C	14.67	2.605730	0.46527	.	.	ENSG00000171681	ENST00000261168;ENST00000543189;ENST00000536444;ENST00000544627;ENST00000540793	T;T;T;T;T	0.27402	1.67;1.7;1.67;1.67;1.67	6.02	6.02	0.97574	.	0.086170	0.51477	D	0.000095	T	0.43033	0.1229	L	0.47716	1.5	0.51767	D	0.999932	D;D;D;D	0.65815	0.976;0.976;0.995;0.995	P;P;P;P	0.56474	0.698;0.698;0.799;0.799	T	0.04347	-1.0958	9	.	.	.	-21.2029	15.6449	0.77039	0.0:0.933:0.0:0.067	.	753;754;753;365	G3V1U0;Q6VMQ6;Q6VMQ6-2;B3KQF8	.;MCAF1_HUMAN;.;.	S	754;753;753;762;754	ENSP00000261168:P754S;ENSP00000443179:P753S;ENSP00000445955:P753S;ENSP00000440440:P762S;ENSP00000444589:P754S	.	P	+	1	0	ATF7IP	14504797	1.000000	0.71417	1.000000	0.80357	0.823000	0.46562	2.776000	0.47709	2.857000	0.98124	0.650000	0.86243	CCT		0.473	ATF7IP-024	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000401400.1	NM_018179		15	105	0	0	0	1	0	15	105					T	14613530	C	T	14613530	3	4	126	1	0	0	0	0	1	0	0	0	1087	855	30	3	2290	3	ATF7IP	12	14613530	Missense_Mutation	SNP	C	TCGA-EJ-A6RC-01A-11D-A32B-08		14613530	119238365	26	6609											
TIMELESS	8914	broad.mit.edu	37	chr12	56815178	56815178	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgccgtttcttgtacagcTcccgccgctcagccaccagc	5	10	8	18	3	3	0	1	0	2	0	4	0	4	0	5	0	5	4	5	0	1	3	rs78697874		TCGA-EJ-A6RC-01A-11D-A32B-08	TCGA-EJ-A6RC-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	379affa6-98e2-459e-ac52-5ce57f69e2dd	bb8583d6-621a-4f59-87af-0a72dd30e1a6	g.chr12:56815178T>C	ENST00000553532.1	-	23	2975	c.2825A>G	c.(2824-2826)gAg>gGg	p.E942G	TIMELESS_ENST00000229201.4_Missense_Mutation_p.E941G|TIMELESS_ENST00000554616.1_Missense_Mutation_p.E439G					timeless circadian clock											NS(1)|breast(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(8)|lung(14)|ovary(7)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	49						CTTGTACAGCTCCCGCCGCTC	0.527																																						ENST00000229201.4																			0				NS(1)|breast(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(8)|lung(14)|ovary(7)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	49						c.(2821-2823)gAg>gGg		timeless circadian clock							134	123	127					12																	56815178		2203	4300	6503	SO:0001583	missense	8914				cell division|circadian rhythm|detection of abiotic stimulus|mitosis|morphogenesis of an epithelium|negative regulation of transcription, DNA-dependent|regulation of S phase|response to DNA damage stimulus|transcription, DNA-dependent	nuclear chromatin		g.chr12:56815178T>C	AF098162	CCDS8918.1	12q13.3	2012-12-14	2012-12-14		ENSG00000111602	ENSG00000111602			11813	protein-coding gene	gene with protein product	"Tof1 homolog (S. cerevisiae)", "timeless circadian clock 1"	603887	"timeless (Drosophila) homolog", "timeless homolog (Drosophila)"			9856465	Standard	NM_003920		Approved	hTIM, TIM, TIM1	uc001slf.2	Q9UNS1	OTTHUMG00000170600	ENST00000553532.1:c.2825A>G	12.37:g.56815178T>C	ENSP00000450607:p.Glu942Gly					TIMELESS_ENST00000554616.1_Missense_Mutation_p.E439G|TIMELESS_ENST00000553532.1_Missense_Mutation_p.E942G	p.E941G	NM_003920.3	NP_003911.2	Q9UNS1	TIM_HUMAN			23	2976	-			942						Missense_Mutation	SNP	ENST00000553532.1	37	c.2822A>G	CCDS8918.1	.	.	.	.	.	.	.	.	.	.	T	32	5.141585	0.94560	.	.	ENSG00000111602	ENST00000229201;ENST00000553532;ENST00000554616	T;T;T	0.13538	2.58;2.58;2.58	4.99	4.99	0.66335	Timeless C-terminal (1);	0.195767	0.42172	D	0.000750	T	0.25568	0.0622	L	0.58810	1.83	0.31965	N	0.607868	P	0.42010	0.768	P	0.50405	0.64	T	0.16012	-1.0417	10	0.56958	D	0.05	-8.0335	14.3491	0.66688	0.0:0.0:0.0:1.0	.	942	Q9UNS1	TIM_HUMAN	G	941;942;439	ENSP00000229201:E941G;ENSP00000450607:E942G;ENSP00000450848:E439G	ENSP00000229201:E942G	E	-	2	0	TIMELESS	55101445	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.366000	0.79548	2.180000	0.69256	0.454000	0.30748	GAG		0.527	TIMELESS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000409771.1	NM_003920		9	79	0	0	0	1	0	9	79					C	56815178	T	C	56815178	3	2	126	1	0	0	0	0	1	0	0	0	15901	1551	54	4	829	4	TIMELESS	12	56815178	Missense_Mutation	SNP	T	TCGA-EJ-A6RC-01A-11D-A32B-08	42201648	56815178	77036717	27	6610											
SACS	26278	broad.mit.edu	37	chr13	23905654	23905654	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	attgcatcctagcatagcaaTtaaatatgaagtgtcagaaa	17	11	7	6	0	1	2	1	1	0	1	2	2	2	2	1	0	3	3	1	0	8	5			TCGA-EJ-A6RC-01A-11D-A32B-08	TCGA-EJ-A6RC-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	379affa6-98e2-459e-ac52-5ce57f69e2dd	bb8583d6-621a-4f59-87af-0a72dd30e1a6	g.chr13:23905654T>G	ENST00000382292.3	-	9	12634	c.12361A>C	c.(12361-12363)Att>Ctt	p.I4121L	SACS_ENST00000382298.3_Missense_Mutation_p.I4121L|SACS_ENST00000402364.1_Missense_Mutation_p.I3371L			Q9NZJ4	SACS_HUMAN	sacsin molecular chaperone	4121					cell death (GO:0008219)|negative regulation of inclusion body assembly (GO:0090084)|protein folding (GO:0006457)	axon (GO:0030424)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chaperone binding (GO:0051087)|Hsp70 protein binding (GO:0030544)|proteasome binding (GO:0070628)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		AGCATAGCAATTAAATATGAA	0.358																																						ENST00000382298.3																			0				NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189						c.(12361-12363)Att>Ctt		spastic ataxia of Charlevoix-Saguenay (sacsin)							90	91	91					13																	23905654		2203	4299	6502	SO:0001583	missense	26278				cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding	g.chr13:23905654T>G	AF193556	CCDS9300.2	13q11	2014-06-13	2014-01-30		ENSG00000151835	ENSG00000151835		"Heat shock proteins / DNAJ (HSP40)"	10519	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 138"	604490	"spastic ataxia of Charlevoix-Saguenay (sacsin)"			10610707, 15057823, 21726565	Standard	NM_001278055		Approved	ARSACS, KIAA0730, DKFZp686B15167, DNAJC29, SPAX6, PPP1R138	uc001uon.3	Q9NZJ4	OTTHUMG00000016562	ENST00000382292.3:c.12361A>C	13.37:g.23905654T>G	ENSP00000371729:p.Ile4121Leu					SACS_ENST00000382292.3_Missense_Mutation_p.I4121L|SACS_ENST00000402364.1_Missense_Mutation_p.I3371L	p.I4121L	NM_014363.4	NP_055178.3	Q9NZJ4	SACS_HUMAN		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)	10	12949	-		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)	4121					O94835|Q5T9J5|Q5T9J7|Q5T9J8|Q68DF5|Q6MZR4|Q8NBF9	Missense_Mutation	SNP	ENST00000382292.3	37	c.12361A>C	CCDS9300.2	.	.	.	.	.	.	.	.	.	.	T	12.40	1.926272	0.34002	.	.	ENSG00000151835	ENST00000382292;ENST00000402364;ENST00000382298	D;D;D	0.86769	-2.03;-2.17;-2.03	5.3	5.3	0.74995	.	0.000000	0.85682	D	0.000000	T	0.80193	0.4578	L	0.36672	1.1	0.50467	D	0.999873	B	0.26483	0.15	B	0.28991	0.097	T	0.74172	-0.3751	10	0.02654	T	1	.	15.2384	0.73450	0.0:0.0:0.0:1.0	.	4121	Q9NZJ4	SACS_HUMAN	L	4121;3371;4121	ENSP00000371729:I4121L;ENSP00000385844:I3371L;ENSP00000371735:I4121L	ENSP00000371729:I4121L	I	-	1	0	SACS	22803654	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	7.974000	0.88039	1.989000	0.58080	0.528000	0.53228	ATT		0.358	SACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044148.3	NM_014363		4	96	0	0	0	1	0	4	96					G	23905654	T	G	23905654	3	3	126	1	0	0	0	0	1	0	0	0	13804	1493	52	5	1382	5	SACS	13	23905654	Missense_Mutation	SNP	T	TCGA-EJ-A6RC-01A-11D-A32B-08		23905654	91264224	28	6611											
ABCC4	10257	broad.mit.edu	37	chr13	95715069	95715069	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gacaatctaaaaagggctgaGatgagggaactttttccagc	14	9	11	7	0	1	2	0	2	1	1	2	5	2	3	1	2	2	1	1	2	5	3	rs11568652	byFrequency	TCGA-EJ-A6RC-01A-11D-A32B-08	TCGA-EJ-A6RC-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	379affa6-98e2-459e-ac52-5ce57f69e2dd	bb8583d6-621a-4f59-87af-0a72dd30e1a6	g.chr13:95715069G>A	ENST00000376887.4	-	26	3369	c.3255C>T	c.(3253-3255)atC>atT	p.I1085I	ABCC4_ENST00000412704.1_Silent_p.I1038I	NM_005845.3	NP_005836.2	O15439	MRP4_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 4	1085	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				blood coagulation (GO:0007596)|oxidation-reduction process (GO:0055114)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of smooth muscle cell proliferation (GO:0048661)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|response to organonitrogen compound (GO:0010243)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet dense granule membrane (GO:0031088)	15-hydroxyprostaglandin dehydrogenase (NAD+) activity (GO:0016404)|ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43	all_neural(89;0.0878)|Medulloblastoma(90;0.163)				Adefovir Dipivoxil(DB00718)|Alprostadil(DB00770)|Atorvastatin(DB01076)|Cefazolin(DB01327)|Celecoxib(DB00482)|Conjugated Estrogens(DB00286)|Diclofenac(DB00586)|Dinoprostone(DB00917)|Dipyridamole(DB00975)|Fluorouracil(DB00544)|Flurbiprofen(DB00712)|Folic Acid(DB00158)|Gadoxetate(DB08884)|Glutathione(DB00143)|Ibuprofen(DB01050)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Lamivudine(DB00709)|Leucovorin(DB00650)|Meloxicam(DB00814)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|Nateglinide(DB00731)|Oseltamivir(DB00198)|Probenecid(DB01032)|Rosuvastatin(DB01098)|Sildenafil(DB00203)|Sorafenib(DB00398)|Sulfinpyrazone(DB01138)|Sunitinib(DB01268)|Tenofovir(DB00300)|Tioguanine(DB00352)|Ursodeoxycholic acid(DB01586)|Verapamil(DB00661)|Zidovudine(DB00495)	AAAGGGCTGAGATGAGGGAAC	0.398																																						ENST00000376887.4																			0				breast(1)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43						c.(3253-3255)atC>atT		ATP-binding cassette, sub-family C (CFTR/MRP), member 4	Cefazolin(DB01327)						81	82	81					13																	95715069		2203	4300	6503	SO:0001819	synonymous_variant	10257				platelet activation|platelet degranulation	integral to membrane|membrane fraction|plasma membrane|platelet dense granule membrane	15-hydroxyprostaglandin dehydrogenase (NAD+) activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|chloride channel activity	g.chr13:95715069G>A	U66682	CCDS9474.1	13q31	2012-03-14			ENSG00000125257	ENSG00000125257		"ATP binding cassette transporters / subfamily C"	55	protein-coding gene	gene with protein product	"canalicular multispecific organic anion transporter (ABC superfamily)", "bA464I2.1 (ATP-binding cassette, sub-family C (CFTR/MRP), member 4)", "multidrug resistance-associated protein 4", "multispecific organic anion transporter B"	605250				8894702, 9661885	Standard	NM_005845		Approved	MRP4, EST170205, MOAT-B, MOATB	uc001vmd.4	O15439	OTTHUMG00000017216	ENST00000376887.4:c.3255C>T	13.37:g.95715069G>A						ABCC4_ENST00000412704.1_Silent_p.I1038I	p.I1085I	NM_005845.3	NP_005836.2	O15439	MRP4_HUMAN			26	3369	-	all_neural(89;0.0878)|Medulloblastoma(90;0.163)		1085			ABC transporter 2.		A9Z1Z7|Q8IVZ4|Q8IZN6|Q8NEW8|Q9Y6J2	Silent	SNP	ENST00000376887.4	37	c.3255C>T	CCDS9474.1																																																																																				0.398	ABCC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045478.2	NM_005845		6	60	0	0	0	1	0	6	60					A	95715069	G	A	95715069	2	1	126	1	0	0	0	0	0	0	0	1	55	932	33	3		3	ABCC4	13	95715069	Silent	SNP	G	TCGA-EJ-A6RC-01A-11D-A32B-08	71809415	95715069	19454809	29	6612											
MYO16	23026	broad.mit.edu	37	chr13	109365050	109365050	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggcagacccccacaccctcGtctcctcgggagggtccctg	5	6	12	18	2	1	1	0	0	1	1	5	2	2	2	5	3	0	1	5	3	0	0	rs111464054		TCGA-EJ-A6RC-01A-11D-A32B-08	TCGA-EJ-A6RC-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	379affa6-98e2-459e-ac52-5ce57f69e2dd	bb8583d6-621a-4f59-87af-0a72dd30e1a6	g.chr13:109365050G>A	ENST00000357550.2	+	2	309	c.268G>A	c.(268-270)Gtc>Atc	p.V90I	MYO16_ENST00000251041.5_Missense_Mutation_p.V90I|MYO16_ENST00000356711.2_Missense_Mutation_p.V90I	NM_001198950.1	NP_001185879.1			myosin XVI											NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			CCACACCCTCGTCTCCTCGGG	0.577													G|||	1	0.000199681	0	0	5008	,	,		15954	0		0.001	False		,,,				2504	0					ENST00000356711.2																			0				NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121						c.(268-270)Gtc>Atc		myosin XVI		G	ILE/VAL,ILE/VAL	0,4406		0,0,2203	108	93	98		334,268	-1.1	0	13	dbSNP_132	98	5,8595	4.3+/-15.6	0,5,4295	yes	missense,missense	MYO16	NM_001198950.1,NM_015011.1	29,29	0,5,6498	AA,AG,GG		0.0581,0.0,0.0384	benign,benign	112/1881,90/1859	109365050	5,13001	2203	4300	6503	SO:0001583	missense	23026				cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle	myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane	actin filament binding|ATP binding|motor activity	g.chr13:109365050G>A		CCDS32008.1, CCDS73598.1	13q33.3	2014-06-12			ENSG00000041515	ENSG00000041515		"Myosins / Myosin superfamily : Class XVI", "Ankyrin repeat domain containing"	29822	protein-coding gene	gene with protein product	"neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 3", "protein phosphatase 1, regulatory subunit 107"	615479				11588169, 17029291, 21946561	Standard	NM_001198950		Approved	MYR8, KIAA0865, Myo16b, NYAP3, PPP1R107	uc001vqt.1	Q9Y6X6	OTTHUMG00000017333	ENST00000357550.2:c.268G>A	13.37:g.109365050G>A	ENSP00000350160:p.Val90Ile					MYO16_ENST00000251041.5_Missense_Mutation_p.V90I|MYO16_ENST00000357550.2_Missense_Mutation_p.V90I	p.V90I	NM_015011.1	NP_055826.1	Q9Y6X6	MYO16_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)		3	394	+	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		90						Missense_Mutation	SNP	ENST00000357550.2	37	c.268G>A	CCDS32008.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	1.482	-0.557004	0.03967	0.0	5.81E-4	ENSG00000041515	ENST00000356711;ENST00000397258;ENST00000357550;ENST00000251041	T;T;T	0.52754	0.65;0.65;0.65	5.28	-1.11	0.09840	Ankyrin repeat-containing domain (4);	0.639252	0.11360	U	0.572010	T	0.20251	0.0487	N	0.05534	-0.03	0.09310	N	1	B;B	0.24882	0.065;0.113	B;B	0.13407	0.005;0.009	T	0.18871	-1.0323	9	.	.	.	.	5.008	0.14298	0.38:0.3446:0.2754:0.0	.	90;90	Q9Y6X6-2;Q9Y6X6	.;MYO16_HUMAN	I	90	ENSP00000349145:V90I;ENSP00000350160:V90I;ENSP00000251041:V90I	.	V	+	1	0	MYO16	108163051	0.001000	0.12720	0.000000	0.03702	0.019000	0.09904	-0.409000	0.07160	-0.010000	0.14271	-0.145000	0.13849	GTC		0.577	MYO16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045746.1	NM_015011		4	88	0	0	0	1	0	4	88					A	109365050	G	A	109365050	3	1	126	1	0	0	0	0	1	0	0	0	10064	1145	40	1	274	1	MYO16	13	109365050	Missense_Mutation	SNP	G	TCGA-EJ-A6RC-01A-11D-A32B-08	13649981	109365050	5804828	30	6613											
PTPN21	11099	broad.mit.edu	37	chr14	88945894	88945894	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgtgcagctgcgcgtggcgCgcggcggtgaggggctcgct	2	8	20	11	7	0	1	0	1	0	0	1	1	0	1	0	5	3	4	0	5	0	1	rs138744802		TCGA-EJ-A6RC-01A-11D-A32B-08	TCGA-EJ-A6RC-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	379affa6-98e2-459e-ac52-5ce57f69e2dd	bb8583d6-621a-4f59-87af-0a72dd30e1a6	g.chr14:88945894C>T	ENST00000556564.1	-	13	2165	c.1881G>A	c.(1879-1881)gcG>gcA	p.A627A	PTPN21_ENST00000328736.3_Silent_p.A627A	NM_007039.3	NP_008970.2	Q16825	PTN21_HUMAN	protein tyrosine phosphatase, non-receptor type 21	627					peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	protein tyrosine phosphatase activity (GO:0004725)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|liver(1)|lung(7)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						GCGCGTGGCGCGCGGCGGTGA	0.706													C|||	1	0.000199681	0	0	5008	,	,		11541	0		0.001	False		,,,				2504	0					ENST00000556564.1																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|liver(1)|lung(7)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						c.(1879-1881)gcG>gcA		protein tyrosine phosphatase, non-receptor type 21		C		0,4372		0,0,2186	20	22	21		1881	-2	0	14	dbSNP_134	21	5,8547		0,5,4271	no	coding-synonymous	PTPN21	NM_007039.3		0,5,6457	TT,TC,CC		0.0585,0.0,0.0387		627/1175	88945894	5,12919	2186	4276	6462	SO:0001819	synonymous_variant	11099					cytoplasm|cytoskeleton	binding|protein tyrosine phosphatase activity	g.chr14:88945894C>T	X79510	CCDS9884.1	14q31	2011-06-09				ENSG00000070778		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"	9651	protein-coding gene	gene with protein product		603271				7519780	Standard	NM_007039		Approved	PTPD1, PTPRL10	uc001xwv.4	Q16825		ENST00000556564.1:c.1881G>A	14.37:g.88945894C>T						PTPN21_ENST00000328736.3_Silent_p.A627A	p.A627A	NM_007039.3	NP_008970.2	Q16825	PTN21_HUMAN			13	2165	-			627						Silent	SNP	ENST00000556564.1	37	c.1881G>A	CCDS9884.1																																																																																				0.706	PTPN21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410303.1			3	29	0	0	0	1	0	3	29					T	88945894	C	T	88945894	2	4	126	1	0	0	0	0	0	0	0	1	12786	755	27	1		1	PTPN21	14	88945894	Silent	SNP	C	TCGA-EJ-A6RC-01A-11D-A32B-08		88945894	18403646	31	6614											
DNAH3	55567	broad.mit.edu	37	chr16	21170750	21170750	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagtgtgagctcgaggcgccCtgtagctcccatcccccaac	7	7	10	17	2	0	1	0	1	0	0	3	2	2	1	4	1	3	3	4	1	2	1			TCGA-EJ-A6RC-01A-11D-A32B-08	TCGA-EJ-A6RC-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	379affa6-98e2-459e-ac52-5ce57f69e2dd	bb8583d6-621a-4f59-87af-0a72dd30e1a6	g.chr16:21170750C>T	ENST00000261383.3	-	1	12	c.13G>A	c.(13-15)Ggg>Agg	p.G5R	TMEM159_ENST00000451578.2_Intron|DNAH3_ENST00000415178.1_Missense_Mutation_p.G5R|TMEM159_ENST00000572258.1_Intron|TMEM159_ENST00000572599.1_Intron|TMEM159_ENST00000574092.1_Intron|TMEM159_ENST00000233047.4_Intron|TMEM159_ENST00000261388.3_Intron	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	5	Stem. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		TCGAGGCGCCCTGTAGCTCCC	0.632																																						ENST00000261383.3																			0				NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202						c.(13-15)Ggg>Agg		dynein, axonemal, heavy chain 3							68	77	74					16																	21170750		2201	4300	6501	SO:0001583	missense	55567				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr16:21170750C>T	U83574	CCDS10594.1	16p12.2	2008-08-01	2006-09-04		ENSG00000158486	ENSG00000158486		"Axonemal dyneins"	2949	protein-coding gene	gene with protein product		603334	"dynein, axonemal, heavy polypeptide 3"			9256245, 9373155	Standard	NM_017539		Approved	Dnahc3b, DLP3, Hsadhc3, DKFZp434N074	uc010vbe.2	Q8TD57	OTTHUMG00000090677	ENST00000261383.3:c.13G>A	16.37:g.21170750C>T	ENSP00000261383:p.Gly5Arg					TMEM159_ENST00000261388.3_Intron|TMEM159_ENST00000233047.4_Intron|TMEM159_ENST00000572599.1_Intron|TMEM159_ENST00000574092.1_Intron|DNAH3_ENST00000415178.1_Missense_Mutation_p.G5R|TMEM159_ENST00000451578.2_Intron|TMEM159_ENST00000572258.1_Intron	p.G5R	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN		GBM - Glioblastoma multiforme(48;0.207)	1	12	-			5			Stem (By similarity).		O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Missense_Mutation	SNP	ENST00000261383.3	37	c.13G>A	CCDS10594.1	.	.	.	.	.	.	.	.	.	.	C	1.693	-0.503499	0.04261	.	.	ENSG00000158486	ENST00000261383;ENST00000415178	T;T	0.23147	1.92;2.04	2.09	1.07	0.20283	.	.	.	.	.	T	0.13756	0.0333	N	0.22421	0.69	0.09310	N	0.999999	B	0.24186	0.099	B	0.25140	0.058	T	0.36696	-0.9737	9	0.10636	T	0.68	.	6.4104	0.21688	0.0:0.6898:0.3102:0.0	.	5	Q8TD57	DYH3_HUMAN	R	5	ENSP00000261383:G5R;ENSP00000394245:G5R	ENSP00000261383:G5R	G	-	1	0	DNAH3	21078251	0.002000	0.14202	0.000000	0.03702	0.007000	0.05969	0.208000	0.17415	0.410000	0.25675	0.561000	0.74099	GGG		0.632	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207361.1	NM_017539		4	75	0	0	0	1	0	4	75					T	21170750	C	T	21170750	3	4	126	1	0	0	0	0	1	0	0	0	4603	681	24	3	12584	3	DNAH3	16	21170750	Missense_Mutation	SNP	C	TCGA-EJ-A6RC-01A-11D-A32B-08		21170750	69184003	32	6615											
SALL1	6299	broad.mit.edu	37	chr16	51173693	51173693	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtcatcaaaatttttctcatCaaaggaacctgtgtcagact	13	13	6	9	0	5	1	5	0	1	1	6	2	5	2	1	1	1	0	1	1	4	2			TCGA-EJ-A6RC-01A-11D-A32B-08	TCGA-EJ-A6RC-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	379affa6-98e2-459e-ac52-5ce57f69e2dd	bb8583d6-621a-4f59-87af-0a72dd30e1a6	g.chr16:51173693C>T	ENST00000251020.4	-	2	2473	c.2440G>A	c.(2440-2442)Gat>Aat	p.D814N	SALL1_ENST00000566102.1_Intron|SALL1_ENST00000440970.1_Missense_Mutation_p.D717N|SALL1_ENST00000541611.1_Intron	NM_002968.2	NP_002959.2	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	814					adrenal gland development (GO:0030325)|branching involved in ureteric bud morphogenesis (GO:0001658)|embryonic digestive tract development (GO:0048566)|embryonic digit morphogenesis (GO:0042733)|forelimb morphogenesis (GO:0035136)|gonad development (GO:0008406)|heart development (GO:0007507)|hindlimb morphogenesis (GO:0035137)|histone deacetylation (GO:0016575)|inductive cell-cell signaling (GO:0031129)|kidney development (GO:0001822)|kidney epithelium development (GO:0072073)|limb development (GO:0060173)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|olfactory bulb interneuron differentiation (GO:0021889)|olfactory bulb mitral cell layer development (GO:0061034)|olfactory nerve development (GO:0021553)|outer ear morphogenesis (GO:0042473)|pituitary gland development (GO:0021983)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of neural precursor cell proliferation (GO:2000177)|transcription, DNA-templated (GO:0006351)|ureteric bud development (GO:0001657)|ureteric bud invasion (GO:0072092)|ventricular septum development (GO:0003281)	chromocenter (GO:0010369)|cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			TTTTTCTCATCAAAGGAACCT	0.512																																					GBM(103;1352 1446 1855 4775 8890)	ENST00000440970.1																			0				NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126						c.(2149-2151)Gat>Aat		spalt-like transcription factor 1							126	133	131					16																	51173693		2198	4300	6498	SO:0001583	missense	6299				adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr16:51173693C>T	X98833	CCDS10747.1, CCDS45483.1	16q12.1	2014-09-17	2013-10-17		ENSG00000103449	ENSG00000103449		"Zinc fingers, C2H2-type"	10524	protein-coding gene	gene with protein product		602218	"sal (Drosophila)-like 1", "sal-like 1 (Drosophila)"	TBS		9425907	Standard	NM_002968		Approved	Hsal1, ZNF794	uc021tie.1	Q9NSC2	OTTHUMG00000133176	ENST00000251020.4:c.2440G>A	16.37:g.51173693C>T	ENSP00000251020:p.Asp814Asn					SALL1_ENST00000566102.1_Intron|SALL1_ENST00000541611.1_Intron|SALL1_ENST00000251020.4_Missense_Mutation_p.D814N	p.D717N	NM_001127892.1	NP_001121364.1	Q9NSC2	SALL1_HUMAN	COAD - Colon adenocarcinoma(2;0.24)		2	2580	-		all_cancers(37;0.0322)	814					Q99881|Q9NSC3|Q9P1R0	Missense_Mutation	SNP	ENST00000251020.4	37	c.2149G>A	CCDS10747.1	.	.	.	.	.	.	.	.	.	.	C	13.73	2.325193	0.41197	.	.	ENSG00000103449	ENST00000251020;ENST00000440970;ENST00000457559	T;T	0.08634	3.08;3.07	5.34	5.34	0.76211	.	0.044611	0.85682	D	0.000000	T	0.21347	0.0514	M	0.68317	2.08	0.80722	D	1	D	0.60575	0.988	P	0.53518	0.728	T	0.00649	-1.1627	10	0.32370	T	0.25	.	19.0945	0.93244	0.0:1.0:0.0:0.0	.	814	Q9NSC2	SALL1_HUMAN	N	814;717;778	ENSP00000251020:D814N;ENSP00000407914:D717N	ENSP00000251020:D814N	D	-	1	0	SALL1	49731194	1.000000	0.71417	0.621000	0.29145	0.009000	0.06853	7.818000	0.86416	2.511000	0.84671	0.454000	0.30748	GAT		0.512	SALL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256883.2	NM_002968		8	175	0	0	0	1	0	8	175					T	51173693	C	T	51173693	3	4	126	1	0	0	0	0	1	0	0	0	13810	826	29	3	1542	3	SALL1	16	51173693	Missense_Mutation	SNP	C	TCGA-EJ-A6RC-01A-11D-A32B-08	30002943	51173693	39181060	33	6616											
FAM18B	51030	broad.mit.edu	37	chr17	18708852	18708852	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttttttttttgtcttttgcAgaacactggagatgatcaga	9	19	8	5	0	2	4	1	1	1	3	2	5	2	4	0	1	2	1	0	1	1	7	rs2589696		TCGA-EJ-A6RC-01A-11D-A32B-08	TCGA-EJ-A6RC-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	379affa6-98e2-459e-ac52-5ce57f69e2dd	bb8583d6-621a-4f59-87af-0a72dd30e1a6	g.chr17:18708852A>G	ENST00000307767.8	+	7	890		c.e7-1		TVP23B_ENST00000476139.1_Splice_Site|TVP23B_ENST00000581733.1_Splice_Site	NM_016078.4	NP_057162.4	Q9NYZ1	TV23B_HUMAN	trans-golgi network vesicle protein 23 homolog B (S. cerevisiae)							integral component of membrane (GO:0016021)											TGTCTTTTGCAGAACACTGGA	0.368																																						ENST00000476139.1																			0											c.e7-1		trans-golgi network vesicle protein 23 homolog B (S. cerevisiae)							113	100	104					17																	18708852		1849	4083	5932	SO:0001630	splice_region_variant	51030							g.chr17:18708852A>G	AF151906	CCDS42274.1	17p11.2	2012-11-29	2012-11-29	2012-11-29	ENSG00000171928	ENSG00000171928			20399	protein-coding gene	gene with protein product			"family with sequence similarity 18, member B", "family with sequence similarity 18, member B1"	FAM18B, FAM18B1		10810093	Standard	NM_016078		Approved	CGI-148, YDR084C	uc002gum.2	Q9NYZ1	OTTHUMG00000059052	ENST00000307767.8:c.592-1A>G	17.37:g.18708852A>G						TVP23B_ENST00000581733.1_Splice_Site|TVP23B_ENST00000307767.8_Splice_Site								7	1815	+								A8K448|Q96HK5|Q9Y3E6	Splice_Site	SNP	ENST00000307767.8	37		CCDS42274.1	19	0.0086996336996337	1	0.0020325203252032522	6	0.016574585635359115	0	0.0	12	0.0158311345646438	A	3.616	-0.078582	0.07141	.	.	ENSG00000171928	ENST00000307767	.	.	.	2.57	1.45	0.22620	.	.	.	.	.	.	.	.	.	.	.	0.58432	D	0.999998	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.602	0.12357	0.8326:0.0:0.1674:0.0	rs2589696	.	.	.	.	-1	.	.	.	+	.	.	FAM18B1	18649577	1.000000	0.71417	0.757000	0.31301	0.305000	0.27757	3.799000	0.55529	0.228000	0.21019	-1.211000	0.01629	.		0.368	TVP23B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000130667.2	NM_016078	Intron	4	74	0	0	0	1	0	4	74					G	18708852	A	G	18708852	5	3	126	1	0	0	0	0	0	0	1	0	5519	202	7	4	616	4	FAM18B	17	18708852	Splice_Site	SNP	A	TCGA-EJ-A6RC-01A-11D-A32B-08		18708852	62486358	34	6617											
ACE	1636	broad.mit.edu	37	chr17	61566347	61566347	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggtctatgtacgagacacCatccctggagcaagacctgg	11	7	12	11	1	1	2	0	0	1	2	2	5	2	3	3	3	2	2	3	3	3	2			TCGA-EJ-A6RC-01A-11D-A32B-08	TCGA-EJ-A6RC-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	379affa6-98e2-459e-ac52-5ce57f69e2dd	bb8583d6-621a-4f59-87af-0a72dd30e1a6	g.chr17:61566347C>T	ENST00000290866.4	+	17	2519	c.2495C>T	c.(2494-2496)cCa>cTa	p.P832L	ACE_ENST00000428043.1_Missense_Mutation_p.P832L|ACE_ENST00000290863.6_Missense_Mutation_p.P258L|ACE_ENST00000577647.1_Missense_Mutation_p.P258L|ACE_ENST00000421982.2_Intron|ACE_ENST00000413513.3_Missense_Mutation_p.P258L|ACE_ENST00000490216.2_Missense_Mutation_p.P258L	NM_000789.3	NP_000780.1	P12821	ACE_HUMAN	angiotensin I converting enzyme	832	Peptidase M2 2.				angiotensin catabolic process in blood (GO:0002005)|angiotensin maturation (GO:0002003)|arachidonic acid secretion (GO:0050482)|blood vessel remodeling (GO:0001974)|cellular protein metabolic process (GO:0044267)|hematopoietic stem cell differentiation (GO:0060218)|hormone catabolic process (GO:0042447)|kidney development (GO:0001822)|mononuclear cell proliferation (GO:0032943)|peptide catabolic process (GO:0043171)|regulation of blood pressure (GO:0008217)|regulation of renal output by angiotensin (GO:0002019)|regulation of smooth muscle cell migration (GO:0014910)|regulation of systemic arterial blood pressure by renin-angiotensin (GO:0003081)|regulation of vasoconstriction (GO:0019229)|regulation of vasodilation (GO:0042312)	endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|bradykinin receptor binding (GO:0031711)|carboxypeptidase activity (GO:0004180)|chloride ion binding (GO:0031404)|drug binding (GO:0008144)|endopeptidase activity (GO:0004175)|metallopeptidase activity (GO:0008237)|peptidyl-dipeptidase activity (GO:0008241)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(3)|lung(22)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	51					Benazepril(DB00542)|Candoxatril(DB00616)|Captopril(DB01197)|Cilazapril(DB01340)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519)	TACGAGACACCATCCCTGGAG	0.612																																						ENST00000577647.1																			0				autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(3)|lung(22)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	51						c.(772-774)cCa>cTa		angiotensin I converting enzyme	Benazepril(DB00542)|Captopril(DB01197)|Deserpidine(DB01089)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519)						97	89	92					17																	61566347		2203	4300	6503	SO:0001583	missense	1636				arachidonic acid secretion|hormone catabolic process|kidney development|peptide catabolic process|regulation of smooth muscle cell migration	endosome|external side of plasma membrane|extracellular space|integral to membrane|membrane fraction|plasma membrane	actin binding|bradykinin receptor binding|carboxypeptidase activity|chloride ion binding|drug binding|metallopeptidase activity|peptidyl-dipeptidase activity|zinc ion binding	g.chr17:61566347C>T	J04144	CCDS11637.1, CCDS45755.1, CCDS54155.1	17q23.3	2013-06-12	2013-06-12		ENSG00000159640	ENSG00000159640	3.4.15.1	"CD molecules"	2707	protein-coding gene	gene with protein product	"peptidyl-dipeptidase A"	106180	"angiotensin I converting enzyme (peptidyl-dipeptidase A) 1"	DCP1		2554286, 10319862	Standard	NM_001178057		Approved	ACE1, CD143	uc002jau.2	P12821	OTTHUMG00000154927	ENST00000290866.4:c.2495C>T	17.37:g.61566347C>T	ENSP00000290866:p.Pro832Leu					ACE_ENST00000413513.3_Missense_Mutation_p.P258L|ACE_ENST00000428043.1_Missense_Mutation_p.P832L|ACE_ENST00000490216.2_Missense_Mutation_p.P258L|ACE_ENST00000421982.2_Intron|ACE_ENST00000290863.6_Missense_Mutation_p.P258L|ACE_ENST00000290866.4_Missense_Mutation_p.P832L	p.P258L			P12821	ACE_HUMAN			6	818	+			832			Peptidase M2 1.		B0LPF0|B4DXI3|E7EU16|P22966|Q53YX9|Q59GY8|Q7M4L4	Missense_Mutation	SNP	ENST00000290866.4	37	c.773C>T	CCDS11637.1	.	.	.	.	.	.	.	.	.	.	C	14.97	2.695372	0.48202	.	.	ENSG00000159640	ENST00000290866;ENST00000428043;ENST00000290863;ENST00000413513	T;T;T;T	0.36157	1.27;1.27;1.27;1.27	5.57	4.58	0.56647	.	0.104196	0.64402	D	0.000002	T	0.55593	0.1930	M	0.80982	2.52	0.42926	D	0.994308	B;B;P	0.52577	0.221;0.428;0.954	B;B;P	0.54431	0.309;0.11;0.752	T	0.63897	-0.6533	10	0.62326	D	0.03	-10.546	15.3645	0.74510	0.1447:0.8553:0.0:0.0	.	258;258;832	B4DXI3;P12821-3;P12821	.;.;ACE_HUMAN	L	832;832;258;258	ENSP00000290866:P832L;ENSP00000397593:P832L;ENSP00000290863:P258L;ENSP00000392247:P258L	ENSP00000290863:P258L	P	+	2	0	ACE	58920079	0.114000	0.22134	0.010000	0.14722	0.660000	0.38997	3.898000	0.56281	1.289000	0.44618	0.561000	0.74099	CCA		0.612	ACE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337675.2			8	31	0	0	0	1	0	8	31					T	61566347	C	T	61566347	3	4	126	1	0	0	0	0	1	0	0	0	136	594	21	3	2764	3	ACE	17	61566347	Missense_Mutation	SNP	C	TCGA-EJ-A6RC-01A-11D-A32B-08	42857495	61566347	19628863	35	6618											
SLC16A6	9120	broad.mit.edu	37	chr17	66267674	66267674	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggatgactattttcggtgaCgctggtcctctgataaagat	9	14	11	7	2	1	4	0	3	1	1	3	5	2	5	1	3	0	1	1	3	3	4			TCGA-EJ-A6RC-01A-11D-A32B-08	TCGA-EJ-A6RC-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	379affa6-98e2-459e-ac52-5ce57f69e2dd	bb8583d6-621a-4f59-87af-0a72dd30e1a6	g.chr17:66267674C>T	ENST00000327268.4	-	6	791	c.627G>A	c.(625-627)gcG>gcA	p.A209A	SLC16A6_ENST00000580666.1_Silent_p.A209A|ARSG_ENST00000448504.2_Intron	NM_001174166.1	NP_001167637.1	O15403	MOT7_HUMAN	solute carrier family 16, member 6	209					monocarboxylic acid transport (GO:0015718)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	monocarboxylic acid transmembrane transporter activity (GO:0008028)|symporter activity (GO:0015293)			large_intestine(3)|lung(8)|prostate(1)|skin(1)|urinary_tract(2)	15	all_cancers(12;1.24e-09)		BRCA - Breast invasive adenocarcinoma(8;3.17e-08)|LUSC - Lung squamous cell carcinoma(166;0.24)		Pyruvic acid(DB00119)	TTTTCGGTGACGCTGGTCCTC	0.463																																						ENST00000327268.4																			0				large_intestine(3)|lung(8)|prostate(1)|skin(1)|urinary_tract(2)	15						c.(625-627)gcG>gcA		solute carrier family 16, member 6	Pyruvic acid(DB00119)						137	132	134					17																	66267674		2203	4300	6503	SO:0001819	synonymous_variant	9120					integral to plasma membrane|membrane fraction	monocarboxylic acid transmembrane transporter activity|symporter activity	g.chr17:66267674C>T	U79745	CCDS11675.1	17q24.2	2013-07-18	2013-07-18		ENSG00000108932	ENSG00000108932		"Solute carriers"	10927	protein-coding gene	gene with protein product		603880	"solute carrier family 16 (monocarboxylic acid transporters), member 6", "solute carrier family 16, member 6 (monocarboxylic acid transporter 7)"			9425115	Standard	NM_004694		Approved	MCT6, MCT7	uc002jgz.2	O15403	OTTHUMG00000179812	ENST00000327268.4:c.627G>A	17.37:g.66267674C>T						SLC16A6_ENST00000580666.1_Silent_p.A209A|ARSG_ENST00000448504.2_Intron	p.A209A	NM_001174166.1	NP_001167637.1	O15403	MOT7_HUMAN	BRCA - Breast invasive adenocarcinoma(8;3.17e-08)|LUSC - Lung squamous cell carcinoma(166;0.24)		6	791	-	all_cancers(12;1.24e-09)		209					Q6P1X3	Silent	SNP	ENST00000327268.4	37	c.627G>A	CCDS11675.1																																																																																				0.463	SLC16A6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448323.1	NM_004694		4	116	0	0	0	1	0	4	116					T	66267674	C	T	66267674	2	4	126	1	0	0	0	0	0	0	0	1	14412	523	19	1		1	SLC16A6	17	66267674	Silent	SNP	C	TCGA-EJ-A6RC-01A-11D-A32B-08	4701327	66267674	14927536	36	6619											
SFRS14	10147	broad.mit.edu	37	chr19	19120892	19120892	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagcctggtgcctgaggataGgagggtctgggtcccggtgg	5	8	19	9	1	1	1	0	1	1	0	2	3	2	3	3	7	2	0	3	7	1	1			TCGA-EJ-A6RC-01A-11D-A32B-08	TCGA-EJ-A6RC-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	379affa6-98e2-459e-ac52-5ce57f69e2dd	bb8583d6-621a-4f59-87af-0a72dd30e1a6	g.chr19:19120892G>A	ENST00000601879.1	-	5	2407	c.2110C>T	c.(2110-2112)Cta>Tta	p.L704L	SUGP2_ENST00000337018.6_Silent_p.L704L|SUGP2_ENST00000456085.2_Silent_p.L473L|SUGP2_ENST00000452918.2_Silent_p.L704L|SUGP2_ENST00000600377.1_Silent_p.L718L			Q8IX01	SUGP2_HUMAN	SURP and G patch domain containing 2	704					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	43						CCTGAGGATAGGAGGGTCTGG	0.642																																						ENST00000601879.1																			0				NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	43						c.(2110-2112)Cta>Tta		SURP and G patch domain containing 2							97	96	96					19																	19120892		2203	4300	6503	SO:0001819	synonymous_variant	10147				mRNA processing|RNA splicing	nucleus	RNA binding	g.chr19:19120892G>A	AB002363	CCDS12392.1	19p13	2013-01-28	2010-08-10	2010-08-10	ENSG00000064607	ENSG00000064607		"G patch domain containing"	18641	protein-coding gene	gene with protein product		607993	"splicing factor, arginine/serine-rich 14"	SFRS14		12594045	Standard	NM_014884		Approved	KIAA0365	uc002nkx.2	Q8IX01		ENST00000601879.1:c.2110C>T	19.37:g.19120892G>A						SUGP2_ENST00000600377.1_Silent_p.L718L|SUGP2_ENST00000452918.2_Silent_p.L704L|SUGP2_ENST00000337018.6_Silent_p.L704L|SUGP2_ENST00000456085.2_Silent_p.L473L	p.L704L			Q8IX01	SUGP2_HUMAN			5	2407	-			704					C9JI71|O15071|O60369|Q5JPH7|Q8WUF7	Silent	SNP	ENST00000601879.1	37	c.2110C>T	CCDS12392.1																																																																																				0.642	SUGP2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000464627.1	NM_001017392		5	70	0	0	0	1	0	5	70					A	19120892	G	A	19120892	2	1	126	1	0	0	0	0	0	0	0	1	14170	991	35	3		3	SFRS14	19	19120892	Silent	SNP	G	TCGA-EJ-A6RC-01A-11D-A32B-08		19120892	40008091	37	6620											
ZNF91	7644	broad.mit.edu	37	chr19	23542322	23542322	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggtgtgatagtatgaattttCttatggttagtaaggattga	11	17	12	1	0	1	3	0	3	1	0	1	4	1	4	0	3	0	3	0	3	6	8			TCGA-EJ-A6RC-01A-11D-A32B-08	TCGA-EJ-A6RC-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	379affa6-98e2-459e-ac52-5ce57f69e2dd	bb8583d6-621a-4f59-87af-0a72dd30e1a6	g.chr19:23542322C>G	ENST00000300619.7	-	4	3664	c.3459G>C	c.(3457-3459)aaG>aaC	p.K1153N	ZNF91_ENST00000397082.2_Missense_Mutation_p.K1121N|ZNF91_ENST00000599743.1_Intron|ZNF91_ENST00000596528.1_5'Flank	NM_003430.2	NP_003421.2	Q05481	ZNF91_HUMAN	zinc finger protein 91	1153					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.K1153N(1)					all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)				TATGAATTTTCTTATGGTTAG	0.438																																						ENST00000300619.7																			1	Substitution - Missense(1)	p.K1153N(1)	lung(1)								c.(3457-3459)aaG>aaC		zinc finger protein 91							50	58	55					19																	23542322		2152	4263	6415	SO:0001583	missense	7644					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:23542322C>G	M61871	CCDS42541.1, CCDS74322.1	19p12	2014-02-04	2006-05-12		ENSG00000167232	ENSG00000167232		"Zinc fingers, C2H2-type", "-"	13166	protein-coding gene	gene with protein product		603971	"zinc finger protein 91 (HPF7, HTF10)"			2023909, 2505992	Standard	XR_430154		Approved	HPF7, HTF10	uc002nre.3	Q05481	OTTHUMG00000183268	ENST00000300619.7:c.3459G>C	19.37:g.23542322C>G	ENSP00000300619:p.Lys1153Asn					ZNF91_ENST00000397082.2_Missense_Mutation_p.K1121N|ZNF91_ENST00000599743.1_Intron	p.K1153N	NM_003430.2	NP_003421.2	Q05481	ZNF91_HUMAN			4	3664	-		all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)	1153					A8K5E1|B7Z6G6	Missense_Mutation	SNP	ENST00000300619.7	37	c.3459G>C	CCDS42541.1	.	.	.	.	.	.	.	.	.	.	C	10.79	1.449129	0.26074	.	.	ENSG00000167232	ENST00000300619;ENST00000397082	T;T	0.05996	3.4;3.36	0.474	-0.687	0.11320	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.08537	0.0212	N	0.14661	0.345	0.23795	N	0.996822	D;D	0.89917	1.0;0.995	D;P	0.77557	0.99;0.807	T	0.29852	-0.9998	9	0.59425	D	0.04	.	3.2733	0.06889	0.0:0.4986:0.2725:0.2288	.	1121;1153	Q05481-2;Q05481	.;ZNF91_HUMAN	N	1153;1121	ENSP00000300619:K1153N;ENSP00000380272:K1121N	ENSP00000300619:K1153N	K	-	3	2	ZNF91	23334162	0.001000	0.12720	0.004000	0.12327	0.132000	0.20833	0.763000	0.26517	-0.317000	0.08677	0.306000	0.20318	AAG		0.438	ZNF91-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465891.1	NM_003430		3	55	0	0	0	1	0	3	55					G	23542322	C	G	23542322	3	3	126	1	0	0	0	0	1	0	0	0	18197	912	32	5	120	5	ZNF91	19	23542322	Missense_Mutation	SNP	C	TCGA-EJ-A6RC-01A-11D-A32B-08	4421430	23542322	35586661	38	6621											
OSBPL2	9885	broad.mit.edu	37	chr20	60854351	60854351	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctcaagttctggggcaaaagCgtggaggcggagccccgagg	9	5	17	10	3	2	0	1	0	1	0	2	3	2	2	2	6	2	2	2	6	3	1			TCGA-EJ-A6RC-01A-11D-A32B-08	TCGA-EJ-A6RC-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	379affa6-98e2-459e-ac52-5ce57f69e2dd	bb8583d6-621a-4f59-87af-0a72dd30e1a6	g.chr20:60854351C>T	ENST00000313733.3	+	7	832	c.630C>T	c.(628-630)agC>agT	p.S210S	OSBPL2_ENST00000358053.2_Silent_p.S198S|OSBPL2_ENST00000439951.2_Silent_p.S118S	NM_144498.1	NP_653081.1	Q9H1P3	OSBL2_HUMAN	oxysterol binding protein-like 2	210					lipid transport (GO:0006869)		cholesterol binding (GO:0015485)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	17	Breast(26;7.76e-09)		BRCA - Breast invasive adenocarcinoma(19;1.33e-06)			GGGGCAAAAGCGTGGAGGCGG	0.592																																						ENST00000313733.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	17						c.(628-630)agC>agT		oxysterol binding protein-like 2							97	78	84					20																	60854351		2203	4300	6503	SO:0001819	synonymous_variant	9885				lipid transport		lipid binding	g.chr20:60854351C>T	AB018315	CCDS13494.1, CCDS13495.1, CCDS63323.1	20q13.3	2008-08-01	2001-11-28		ENSG00000130703	ENSG00000130703		"Oxysterol binding proteins"	15761	protein-coding gene	gene with protein product		606731	"oxysterol-binding protein-like 2"			10588946, 11861666	Standard	NM_144498		Approved	KIAA0772, ORP-2	uc002yck.1	Q9H1P3	OTTHUMG00000032909	ENST00000313733.3:c.630C>T	20.37:g.60854351C>T						OSBPL2_ENST00000439951.2_Silent_p.S118S|OSBPL2_ENST00000358053.2_Silent_p.S198S	p.S210S	NM_144498.1	NP_653081.1	Q9H1P3	OSBL2_HUMAN	BRCA - Breast invasive adenocarcinoma(19;1.33e-06)		7	832	+	Breast(26;7.76e-09)		210					A8K736|Q6IBT0|Q9BZB1|Q9Y4B8	Silent	SNP	ENST00000313733.3	37	c.630C>T	CCDS13495.1																																																																																				0.592	OSBPL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080021.1	NM_014835		3	43	0	0	0	1	0	3	43					T	60854351	C	T	60854351	2	4	126	1	0	0	0	0	0	0	0	1	11278	767	27	1		1	OSBPL2	20	60854351	Silent	SNP	C	TCGA-EJ-A6RC-01A-11D-A32B-08		60854351	2171169	39	6622											
EBNA1BP2	10969	broad.mit.edu	37	chr1	43630134	43630136	+	In_Frame_Del	DEL	TCT	TCT	-																															ttagtgtgttctgttcttcaTcttctctcttgttcgttttc																										TCGA-EJ-A7NF-01A-11D-A33T-08	TCGA-EJ-A7NF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1f24ca-9ea6-45b4-aae1-2174a9670065	db974012-6d0c-44c3-ae87-e0f05d96abdc	g.chr1:43630134_43630136delTCT	ENST00000236051.2	-	9	1040_1042	c.899_901delAGA	c.(898-903)aagatg>atg	p.K300del	EBNA1BP2_ENST00000431635.2_In_Frame_Del_p.K355del	NM_006824.2	NP_006815.2	Q99848	EBP2_HUMAN	EBNA1 binding protein 2	300					ribosome biogenesis (GO:0042254)	membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(2)|large_intestine(4)|lung(9)	16	Ovarian(52;0.00579)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				CTGTTCTTCATCTTCTCTCTTGT	0.424																																						ENST00000431635.2																			0				endometrium(1)|kidney(2)|large_intestine(4)|lung(9)	16						c.(1063-1068)atg>a		EBNA1 binding protein 2																																				SO:0001651	inframe_deletion	10969				ribosome biogenesis	membrane fraction|nucleolus	protein binding	g.chr1:43630134_43630136delTCT	U86602	CCDS478.1, CCDS53308.1	1p35-p33	2011-02-10	2001-11-28		ENSG00000117395	ENSG00000117395			15531	protein-coding gene	gene with protein product		614443	"EBNA1-binding protein 2"			10074103, 11438656	Standard	NM_001159936		Approved	NOBP, EBP2, P40	uc010ojx.2	Q99848	OTTHUMG00000007284	ENST00000236051.2:c.899_901delAGA	1.37:g.43630137_43630139delTCT	ENSP00000236051:p.Lys300del					EBNA1BP2_ENST00000236051.2_In_Frame_Del_p.KM300del	p.KM355del	NM_001159936.1	NP_001153408.1	Q99848	EBP2_HUMAN			10	1212_1214	-	Ovarian(52;0.00579)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)	300					Q96A66	In_Frame_Del	DEL	ENST00000236051.2	37	c.1064_1066delAGA	CCDS478.1																																																																																				0.424	EBNA1BP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019015.1			32	50						32	50	---	---	---	---	-	43630136	TCT	-	43630134	7	5	127	1	0	1	0	1	0	0	0	0	4885	1435	50	0	23	0	EBNA1BP2	1	43630134	In_Frame_Del	DEL	TCT	TCGA-EJ-A7NF-01A-11D-A33T-08		43630134	205620487	1	6623											
TNN	63923	broad.mit.edu	37	chr1	175049544	175049544	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aagtttctagcagcccacagCatctacttgccaccacaggt	11	9	7	14	0	2	0	0	0	2	0	2	0	2	0	3	1	5	3	3	1	3	4	rs140077325		TCGA-EJ-A7NF-01A-11D-A33T-08	TCGA-EJ-A7NF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1f24ca-9ea6-45b4-aae1-2174a9670065	db974012-6d0c-44c3-ae87-e0f05d96abdc	g.chr1:175049544C>T	ENST00000239462.4	+	4	1143	c.1030C>T	c.(1030-1032)Cat>Tat	p.H344Y		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	344	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axonogenesis (GO:0007409)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)	cell surface (GO:0009986)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		CAGCCCACAGCATCTACTTGC	0.507																																						ENST00000239462.4																			0				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156						c.(1030-1032)Cat>Tat		tenascin N		C	TYR/HIS	0,4406		0,0,2203	112	111	111		1030	5.7	1	1	dbSNP_134	111	2,8598	2.2+/-6.3	0,2,4298	no	missense	TNN	NM_022093.1	83	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	possibly-damaging	344/1300	175049544	2,13004	2203	4300	6503	SO:0001583	missense	63923				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix		g.chr1:175049544C>T	AK127044	CCDS30943.1	1q23-q24	2013-02-11			ENSG00000120332	ENSG00000120332		"Fibrinogen C domain containing", "Fibronectin type III domain containing"	22942	protein-coding gene	gene with protein product							Standard	NM_022093		Approved		uc001gkl.1	Q9UQP3	OTTHUMG00000034882	ENST00000239462.4:c.1030C>T	1.37:g.175049544C>T	ENSP00000239462:p.His344Tyr						p.H344Y	NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)	4	1143	+		Breast(1374;0.000962)	344			Fibronectin type-III 1.		B9EGP3|Q5R360	Missense_Mutation	SNP	ENST00000239462.4	37	c.1030C>T	CCDS30943.1	.	.	.	.	.	.	.	.	.	.	C	7.827	0.719042	0.15372	0.0	2.33E-4	ENSG00000120332	ENST00000239462;ENST00000539081	T	0.52754	0.65	5.7	5.7	0.88788	Fibronectin, type III (2);	0.268520	0.43416	D	0.000570	T	0.45316	0.1336	L	0.56769	1.78	0.28293	N	0.923475	P;B	0.44195	0.828;0.124	B;B	0.39299	0.296;0.067	T	0.50742	-0.8792	10	0.35671	T	0.21	.	14.9822	0.71319	0.0:0.8577:0.1423:0.0	.	344;344	B3KXB6;Q9UQP3	.;TENN_HUMAN	Y	344	ENSP00000239462:H344Y	ENSP00000239462:H344Y	H	+	1	0	TNN	173316167	0.989000	0.36119	0.996000	0.52242	0.609000	0.37215	1.301000	0.33447	2.683000	0.91414	0.655000	0.94253	CAT		0.507	TNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084422.1	XM_040527		4	53	0	0	0	1	0	4	53					T	175049544	C	T	175049544	3	4	127	1	0	0	0	0	1	0	0	0	16320	710	25	3	1040	3	TNN	1	175049544	Missense_Mutation	SNP	C	TCGA-EJ-A7NF-01A-11D-A33T-08	131419410	175049544	74201077	2	6624											
RGPD4	285190	broad.mit.edu	37	chr2	108487522	108487522	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agcaaacacttccggtgactTtgagaaagatgatgatgcct	13	10	10	8	1	0	5	0	4	0	2	1	6	1	5	2	1	3	1	2	1	2	2			TCGA-EJ-A7NF-01A-11D-A33T-08	TCGA-EJ-A7NF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1f24ca-9ea6-45b4-aae1-2174a9670065	db974012-6d0c-44c3-ae87-e0f05d96abdc	g.chr2:108487522T>C	ENST00000408999.3	+	20	3139	c.3062T>C	c.(3061-3063)tTt>tCt	p.F1021S	RGPD4_ENST00000354986.4_Missense_Mutation_p.F1021S	NM_182588.2	NP_872394.2	Q7Z3J3	RGPD4_HUMAN	RANBP2-like and GRIP domain containing 4	1021					protein targeting to Golgi (GO:0000042)					breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3)	43						TCCGGTGACTTTGAGAAAGAT	0.383																																						ENST00000408999.3																			0				breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3)	43						c.(3061-3063)tTt>tCt		RANBP2-like and GRIP domain containing 4							1	2	2					2																	108487522		274	800	1074	SO:0001583	missense	285190				intracellular transport		binding	g.chr2:108487522T>C	BX537861	CCDS46381.1	2q12.3	2013-01-10			ENSG00000196862	ENSG00000196862		"Tetratricopeptide (TTC) repeat domain containing"	32417	protein-coding gene	gene with protein product		612707				15710750, 15815621	Standard	NM_182588		Approved	RGP4, DKFZp686P0288	uc010ywk.2	Q7Z3J3	OTTHUMG00000153208	ENST00000408999.3:c.3062T>C	2.37:g.108487522T>C	ENSP00000386810:p.Phe1021Ser					RGPD4_ENST00000354986.4_Missense_Mutation_p.F1021S	p.F1021S	NM_182588.2	NP_872394.2	Q7Z3J3	RGPD4_HUMAN			20	3139	+			1021					B9A029	Missense_Mutation	SNP	ENST00000408999.3	37	c.3062T>C	CCDS46381.1	.	.	.	.	.	.	.	.	.	.	-	0	-2.654173	0.00109	.	.	ENSG00000196862	ENST00000354986;ENST00000408999;ENST00000439322	T;T	0.36699	1.24;1.24	2.33	2.33	0.28932	.	.	.	.	.	T	0.13970	0.0338	N	0.04508	-0.205	0.19775	N	0.999958	B	0.09022	0.002	B	0.11329	0.006	T	0.32025	-0.9922	9	0.09338	T	0.73	-5.5626	5.5644	0.17163	0.2456:0.0:0.0:0.7544	.	1021	Q7Z3J3	RGPD4_HUMAN	S	1021;1021;779	ENSP00000347081:F1021S;ENSP00000386810:F1021S	ENSP00000347081:F1021S	F	+	2	0	RGPD4	107853954	0.117000	0.22190	0.611000	0.29010	0.346000	0.29079	1.937000	0.40193	1.072000	0.40860	0.136000	0.15936	TTT		0.383	RGPD4-001	NOVEL	not_best_in_genome_evidence|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000330096.2	XM_496581		4	264	0	0	0	1	0	4	264					C	108487522	T	C	108487522	3	2	127	1	0	0	0	0	1	0	0	0	13288	1841	64	4	3140	4	RGPD4	2	108487522	Missense_Mutation	SNP	T	TCGA-EJ-A7NF-01A-11D-A33T-08		108487522	134711851	3	6625											
MAP2	4133	broad.mit.edu	37	chr2	210588329	210588329	+	Intron	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttccttttaggttaggatttTaaacaagaagatcgatttta	13	17	7	4	1	0	2	0	0	0	2	2	4	1	3	1	2	1	1	1	2	7	8			TCGA-EJ-A7NF-01A-11D-A33T-08	TCGA-EJ-A7NF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1f24ca-9ea6-45b4-aae1-2174a9670065	db974012-6d0c-44c3-ae87-e0f05d96abdc	g.chr2:210588329T>A	ENST00000360351.4	+	13	5579				MAP2_ENST00000199940.6_Nonsense_Mutation_p.L396*|MAP2_ENST00000361559.4_Intron|MAP2_ENST00000392194.1_Intron|RNA5SP118_ENST00000410385.1_RNA|MAP2_ENST00000447185.1_Intron|MAP2_ENST00000475600.1_3'UTR	NM_002374.3	NP_002365.3	P11137	MTAP2_HUMAN	microtubule-associated protein 2						axonogenesis (GO:0007409)|cellular response to organic substance (GO:0071310)|central nervous system neuron development (GO:0021954)|dendrite morphogenesis (GO:0048813)|microtubule bundle formation (GO:0001578)|neuron projection development (GO:0031175)	cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|neuronal cell body (GO:0043025)|nuclear periphery (GO:0034399)	dystroglycan binding (GO:0002162)|structural molecule activity (GO:0005198)			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Docetaxel(DB01248)|Estramustine(DB01196)|Paclitaxel(DB01229)	GTTAGGATTTTAAACAAGAAG	0.408																																					Pancreas(27;423 979 28787 29963)	ENST00000199940.6																			0				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124						c.(1186-1188)tTa>tAa		microtubule-associated protein 2	Estramustine(DB01196)						86	85	85					2																	210588329		2203	4300	6503	SO:0001627	intron_variant	4133				central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	beta-dystroglycan binding|calmodulin binding|structural molecule activity	g.chr2:210588329T>A		CCDS2384.1, CCDS2385.1, CCDS33369.1	2q34-q35	2008-05-27			ENSG00000078018	ENSG00000078018		"A-kinase anchor proteins"	6839	protein-coding gene	gene with protein product		157130				3103857, 7479905	Standard	XM_005246554		Approved	MAP2A, MAP2B, MAP2C	uc002vde.1	P11137	OTTHUMG00000132962	ENST00000360351.4:c.5074-2104T>A	2.37:g.210588329T>A						MAP2_ENST00000447185.1_Intron|MAP2_ENST00000361559.4_Intron|MAP2_ENST00000392194.1_Intron|MAP2_ENST00000360351.4_Intron|MAP2_ENST00000475600.1_3'UTR	p.L396*	NM_001039538.1	NP_001034627.1	P11137	MAP2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	12	1627	+		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)	1674					Q17S04|Q8IUX2|Q99975|Q99976	Nonsense_Mutation	SNP	ENST00000360351.4	37	c.1187T>A	CCDS2384.1	.	.	.	.	.	.	.	.	.	.	T	41	8.578727	0.98870	.	.	ENSG00000078018	ENST00000199940	.	.	.	5.56	5.56	0.83823	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.08837	T	0.75	.	15.7243	0.77743	0.0:0.0:0.0:1.0	.	.	.	.	X	396	.	ENSP00000199940:L396X	L	+	2	0	MAP2	210296574	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.010000	0.64004	2.109000	0.64355	0.533000	0.62120	TTA		0.408	MAP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256521.2	NM_001039538		11	28	0	0	0	1	0	11	28					A	210588329	T	A	210588329	1	1	127	0	1	0	0	0	0	0	0	0	9235	1764	61	5		5	MAP2	2	210588329	Intron	SNP	T	TCGA-EJ-A7NF-01A-11D-A33T-08	102100807	210588329	32611044	4	6626											
CHL1	10752	broad.mit.edu	37	chr3	419627	419627	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	actcaagtaactgttcttggTaagtgcactaactaatgaga	14	12	8	7	0	2	1	1	1	1	1	2	2	2	1	0	1	3	4	0	1	5	6			TCGA-EJ-A7NF-01A-11D-A33T-08	TCGA-EJ-A7NF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1f24ca-9ea6-45b4-aae1-2174a9670065	db974012-6d0c-44c3-ae87-e0f05d96abdc	g.chr3:419627T>C	ENST00000256509.2	+	16	2518		c.e16+2		CHL1-AS1_ENST00000417612.1_RNA|CHL1_ENST00000397491.2_Splice_Site	NM_001253387.1|NM_001253388.1|NM_006614.3	NP_001240316.1|NP_001240317.1|NP_006605.2	Q96FC9	DDX11_HUMAN	cell adhesion molecule L1-like						activation of signaling protein activity involved in unfolded protein response (GO:0006987)|ATP catabolic process (GO:0006200)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|sister chromatid cohesion (GO:0007062)|viral process (GO:0016032)	midbody (GO:0030496)|nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle pole (GO:0000922)	4 iron, 4 sulfur cluster binding (GO:0051539)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA-dependent ATPase activity (GO:0008094)|double-stranded DNA binding (GO:0003690)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)			NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1)	93		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)		CTGTTCTTGGTAAGTGCACTA	0.393																																						ENST00000256509.2																			0				NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1)	93						c.e16+2		cell adhesion molecule L1-like							106	101	103					3																	419627		2203	4300	6503	SO:0001630	splice_region_variant	10752				axon guidance|cell adhesion|signal transduction	integral to membrane|plasma membrane|proteinaceous extracellular matrix		g.chr3:419627T>C	AF002246	CCDS2556.1, CCDS58812.1, CCDS74887.1	3p26	2013-05-01	2013-05-01		ENSG00000134121	ENSG00000134121		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	1939	protein-coding gene	gene with protein product	"neural cell adhesion molecule", "close homolog of L1"	607416	"cell adhesion molecule with homology to L1CAM (close homologue of L1)", "cell adhesion molecule with homology to L1CAM (close homolog of L1)"			9799093	Standard	NM_006614		Approved	CALL, L1CAM2, FLJ44930, MGC132578	uc003bot.3	O00533	OTTHUMG00000090601	ENST00000256509.2:c.1876+2T>C	3.37:g.419627T>C						CHL1-AS1_ENST00000417612.1_RNA|CHL1_ENST00000397491.2_Splice_Site		NM_001253387.1|NM_001253388.1|NM_006614.3	NP_001240316.1|NP_001240317.1|NP_006605.2	O00533	CHL1_HUMAN		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)	16	2518	+		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)						Q13333|Q86VQ4|Q86W62|Q92498|Q92770|Q92998|Q92999	Splice_Site	SNP	ENST00000256509.2	37		CCDS2556.1	.	.	.	.	.	.	.	.	.	.	T	13.88	2.369687	0.42003	.	.	ENSG00000134121	ENST00000256509;ENST00000397491	.	.	.	5.69	5.69	0.88448	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.951	0.79840	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	CHL1	394627	1.000000	0.71417	0.989000	0.46669	0.269000	0.26545	5.558000	0.67319	2.176000	0.68965	0.533000	0.62120	.		0.393	CHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207155.2	NM_006614	Intron	3	63	0	0	0	1	0	3	63					C	419627	T	C	419627	5	2	127	1	0	0	0	0	0	0	1	0	3349	1652	57	4	1932	4	CHL1	3	419627	Splice_Site	SNP	T	TCGA-EJ-A7NF-01A-11D-A33T-08		419627	197602803	5	6627											
TRANK1	9881	broad.mit.edu	37	chr3	36875231	36875231	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggtctgcagcttctgctaagCgtttccgagacttcaagaac	9	11	10	11	2	3	2	1	0	2	2	4	3	4	2	1	1	5	4	1	1	3	4	rs191082794		TCGA-EJ-A7NF-01A-11D-A33T-08	TCGA-EJ-A7NF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1f24ca-9ea6-45b4-aae1-2174a9670065	db974012-6d0c-44c3-ae87-e0f05d96abdc	g.chr3:36875231C>T	ENST00000429976.2	-	21	5958	c.5711G>A	c.(5710-5712)cGc>cAc	p.R1904H	TRANK1_ENST00000301807.6_Missense_Mutation_p.R1354H|TRANK1_ENST00000428977.2_Missense_Mutation_p.R1354H	NM_014831.2	NP_055646.2	O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	1904							ATP binding (GO:0005524)|hydrolase activity (GO:0016787)			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						TTCTGCTAAGCGTTTCCGAGA	0.517													C|||	1	0.000199681	0	0	5008	,	,		19779	0.001		0	False		,,,				2504	0					ENST00000301807.6																			0				NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						c.(4060-4062)cGc>cAc		tetratricopeptide repeat and ankyrin repeat containing 1							120	118	118					3																	36875231		1967	4157	6124	SO:0001583	missense	9881				DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding	g.chr3:36875231C>T	AK096678	CCDS46789.1, CCDS46789.2	3p22.2	2013-01-11			ENSG00000168016	ENSG00000168016		"Ankyrin repeat domain containing", "Tetratricopeptide (TTC) repeat domain containing"	29011	protein-coding gene	gene with protein product	"lupus brain antigen 1", "KIAA0342"					9205841	Standard	NM_014831		Approved	LBA1, KIAA0342	uc003cgj.3	O15050	OTTHUMG00000155848	ENST00000429976.2:c.5711G>A	3.37:g.36875231C>T	ENSP00000416168:p.Arg1904His					TRANK1_ENST00000428977.2_Missense_Mutation_p.R1354H|TRANK1_ENST00000429976.2_Missense_Mutation_p.R1904H	p.R1354H	NM_014831.2	NP_055646.2	O15050	TRNK1_HUMAN			21	5958	-			1904					Q8N8K0	Missense_Mutation	SNP	ENST00000429976.2	37	c.4061G>A	CCDS46789.2	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	10.33	1.319515	0.23994	.	.	ENSG00000168016	ENST00000428977;ENST00000429976;ENST00000301807	T;T;T	0.34072	1.38;1.8;1.38	5.29	5.29	0.74685	.	0.735583	0.12521	N	0.461646	T	0.37919	0.1021	L	0.32530	0.975	0.09310	N	1	D	0.59767	0.986	P	0.47528	0.549	T	0.32824	-0.9892	10	0.21540	T	0.41	.	19.3274	0.94267	0.0:1.0:0.0:0.0	.	1904	O15050	TRNK1_HUMAN	H	1354;1904;1354	ENSP00000416826:R1354H;ENSP00000416168:R1904H;ENSP00000301807:R1354H	ENSP00000301807:R1354H	R	-	2	0	TRANK1	36850235	0.668000	0.27493	0.024000	0.17045	0.349000	0.29174	3.071000	0.50041	2.648000	0.89879	0.561000	0.74099	CGC		0.517	TRANK1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_014831		13	67	0	0	0	1	0	13	67					T	36875231	C	T	36875231	3	4	127	1	0	0	0	0	1	0	0	0	16451	768	27	1	3078	1	TRANK1	3	36875231	Missense_Mutation	SNP	C	TCGA-EJ-A7NF-01A-11D-A33T-08	36455604	36875231	161147199	6	6628											
SLC26A1	10861	broad.mit.edu	37	chr4	983352	983352	+	Frame_Shift_Del	DEL	C	C	-																															ccgccacagccgcgggaggtCccacaccttgcgcagggccc																										TCGA-EJ-A7NF-01A-11D-A33T-08	TCGA-EJ-A7NF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1f24ca-9ea6-45b4-aae1-2174a9670065	db974012-6d0c-44c3-ae87-e0f05d96abdc	g.chr4:983352delC	ENST00000361661.2	-	4	1752	c.1375delG	c.(1375-1377)gacfs	p.D459fs	SLC26A1_ENST00000513138.1_5'Flank|IDUA_ENST00000509744.1_3'UTR|SLC26A1_ENST00000398520.2_Intron|SLC26A1_ENST00000398516.2_Frame_Shift_Del_p.D459fs|IDUA_ENST00000453894.1_Intron|IDUA_ENST00000247933.4_Intron	NM_213613.2	NP_998778.1	Q9H2B4	S26A1_HUMAN	solute carrier family 26 (anion exchanger), member 1	459				DL -> GF (in Ref. 1; AAG22075). {ECO:0000305}.	3'-phosphoadenosine 5'-phosphosulfate biosynthetic process (GO:0050428)|3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|carbohydrate metabolic process (GO:0005975)|chloride transport (GO:0006821)|glycosaminoglycan metabolic process (GO:0030203)|ion transport (GO:0006811)|oxalate transport (GO:0019532)|small molecule metabolic process (GO:0044281)|sulfate transmembrane transport (GO:1902358)|sulfate transport (GO:0008272)|transmembrane transport (GO:0055085)|xenobiotic metabolic process (GO:0006805)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	anion:anion antiporter activity (GO:0015301)|chloride transmembrane transporter activity (GO:0015108)|oxalate transmembrane transporter activity (GO:0019531)|secondary active sulfate transmembrane transporter activity (GO:0008271)|sulfate transmembrane transporter activity (GO:0015116)			central_nervous_system(1)|endometrium(4)|pancreas(1)|prostate(1)|skin(1)	8			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			CGCGGGAGGTCCCACACCTTG	0.716																																						ENST00000361661.2																			0				central_nervous_system(1)|endometrium(4)|pancreas(1)|prostate(1)|skin(1)	8						c.(1375-1377)acfs		solute carrier family 26 (anion exchanger), member 1							7	8	8					4																	983352		2118	4170	6288	SO:0001589	frameshift_variant	10861					integral to membrane|plasma membrane	secondary active sulfate transmembrane transporter activity	g.chr4:983352delC	AF297659	CCDS33933.1, CCDS33934.1	4p16.3	2013-07-18	2013-07-18		ENSG00000145217	ENSG00000145217		"Solute carriers"	10993	protein-coding gene	gene with protein product		610130	"solute carrier family 26 (sulfate transporter), member 1"				Standard	NM_213613		Approved	SAT-1, EDM4	uc003gcc.3	Q9H2B4	OTTHUMG00000160003	ENST00000361661.2:c.1375delG	4.37:g.983352delC	ENSP00000354721:p.Asp459fs					SLC26A1_ENST00000398520.2_Intron|IDUA_ENST00000453894.1_Intron|IDUA_ENST00000247933.4_Intron|IDUA_ENST00000509744.1_3'UTR|SLC26A1_ENST00000398516.2_Frame_Shift_Del_p.D459fs	p.D459fs	NM_213613.2	NP_998778.1	Q9H2B4	S26A1_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.0158)		4	1752	-			459	DL -> GF (in Ref. 1; AAG22075).				A8K9N2|Q7Z5R3|Q96BK0	Frame_Shift_Del	DEL	ENST00000361661.2	37	c.1375delG	CCDS33934.1																																																																																				0.716	SLC26A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358783.1	NM_022042, NM_134425		2	4						2	4	---	---	---	---	-	983352	C	-	983352	7	5	127	1	0	1	0	1	0	0	0	0	14514	855	30	0	837	0	SLC26A1	4	983352	Frame_Shift_Del	DEL	C	TCGA-EJ-A7NF-01A-11D-A33T-08		983352	190170924	7	6629											
ANK2	287	broad.mit.edu	37	chr4	114278436	114278436	+	Nonsense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aaacatttgagaacttaccaAaggactgcccctctcaagac	15	8	6	12	0	1	2	1	1	1	2	2	4	1	3	3	1	4	0	3	1	5	2			TCGA-EJ-A7NF-01A-11D-A33T-08	TCGA-EJ-A7NF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1f24ca-9ea6-45b4-aae1-2174a9670065	db974012-6d0c-44c3-ae87-e0f05d96abdc	g.chr4:114278436A>T	ENST00000357077.4	+	38	8715	c.8662A>T	c.(8662-8664)Aag>Tag	p.K2888*	ANK2_ENST00000394537.3_Intron|ANK2_ENST00000510275.2_Intron|ANK2_ENST00000509550.1_Intron|ANK2_ENST00000506722.1_Intron|ANK2_ENST00000264366.6_Nonsense_Mutation_p.K2855*	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	2888					atrial cardiac muscle cell action potential (GO:0086014)|atrial cardiac muscle cell to AV node cell communication (GO:0086066)|atrial septum development (GO:0003283)|axon guidance (GO:0007411)|cardiac muscle contraction (GO:0060048)|cellular calcium ion homeostasis (GO:0006874)|cellular protein localization (GO:0034613)|membrane depolarization during SA node cell action potential (GO:0086046)|paranodal junction assembly (GO:0030913)|positive regulation of calcium ion transmembrane transporter activity (GO:1901021)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cation channel activity (GO:2001259)|positive regulation of gene expression (GO:0010628)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein localization to cell surface (GO:0034394)|protein localization to endoplasmic reticulum (GO:0070972)|protein localization to M-band (GO:0036309)|protein localization to organelle (GO:0033365)|protein localization to plasma membrane (GO:0072659)|protein localization to T-tubule (GO:0036371)|protein stabilization (GO:0050821)|protein targeting to plasma membrane (GO:0072661)|regulation of calcium ion transmembrane transporter activity (GO:1901019)|regulation of calcium ion transport (GO:0051924)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to methylmercury (GO:0051597)|SA node cell action potential (GO:0086015)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|T-tubule organization (GO:0033292)|ventricular cardiac muscle cell action potential (GO:0086005)	A band (GO:0031672)|basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intracellular (GO:0005622)|M band (GO:0031430)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|potassium channel regulator activity (GO:0015459)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		GAACTTACCAAAGGACTGCCC	0.383																																						ENST00000357077.4																			0				NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248						c.(8662-8664)Aag>Tag		ankyrin 2, neuronal							123	122	122					4																	114278436		2203	4300	6503	SO:0001587	stop_gained	287				axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding	g.chr4:114278436A>T	M37123	CCDS3702.1, CCDS43261.1, CCDS54796.1	4q25-q26	2014-09-17	2003-03-12		ENSG00000145362	ENSG00000145362		"Ankyrin repeat domain containing"	493	protein-coding gene	gene with protein product		106410	"long (electrocardiographic) QT syndrome 4"	LQT4		7485162, 12571597	Standard	NM_001148		Approved		uc003ibe.4	Q01484	OTTHUMG00000132912	ENST00000357077.4:c.8662A>T	4.37:g.114278436A>T	ENSP00000349588:p.Lys2888*					ANK2_ENST00000506722.1_Intron|ANK2_ENST00000509550.1_Intron|ANK2_ENST00000510275.2_Intron|ANK2_ENST00000394537.3_Intron|ANK2_ENST00000264366.6_Nonsense_Mutation_p.K2855*	p.K2888*	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)	38	8715	+		Ovarian(17;0.0448)|Hepatocellular(203;0.218)	2855					Q01485|Q08AC7|Q08AC8|Q7Z3L5	Nonsense_Mutation	SNP	ENST00000357077.4	37	c.8662A>T	CCDS3702.1	.	.	.	.	.	.	.	.	.	.	A	48	14.545925	0.99800	.	.	ENSG00000145362	ENST00000357077;ENST00000264366	.	.	.	5.43	-0.562	0.11781	.	0.965790	0.08500	N	0.936551	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.7454	0.34583	0.6011:0.0:0.3989:0.0	.	.	.	.	X	2888;2855	.	.	K	+	1	0	ANK2	114497885	0.000000	0.05858	0.000000	0.03702	0.049000	0.14656	-0.740000	0.04861	-0.107000	0.12088	0.533000	0.62120	AAG		0.383	ANK2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256422.2	NM_001148		4	113	0	0	0	1	0	4	113					T	114278436	A	T	114278436	4	4	127	1	0	0	0	0	0	1	0	0	621	15	1	5	8877	5	ANK2	4	114278436	Nonsense_Mutation	SNP	A	TCGA-EJ-A7NF-01A-11D-A33T-08	113295084	114278436	76875840	8	6630											
PCDHA6	56142	broad.mit.edu	37	chr5	140209758	140209758	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggcccagaggcggcgctggtGgatgtcaacgtgtacctgat	7	8	16	10	3	1	2	1	1	0	1	1	3	1	3	2	5	2	2	2	5	2	1			TCGA-EJ-A7NF-01A-11D-A33T-08	TCGA-EJ-A7NF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1f24ca-9ea6-45b4-aae1-2174a9670065	db974012-6d0c-44c3-ae87-e0f05d96abdc	g.chr5:140209758G>T	ENST00000529310.1	+	1	2196	c.2082G>T	c.(2080-2082)gtG>gtT	p.V694V	PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron	NM_018909.2|NM_031848.2|NM_031849.1	NP_061732.1|NP_114036.1|NP_114037.1	Q9UN73	PCDA6_HUMAN	protocadherin alpha 6	694					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	89			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGGCGCTGGTGGATGTCAACG	0.677																																						ENST00000529310.1																			0				NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						c.(2080-2082)gtG>gtT									50	53	52					5																	140209758		2202	4295	6497	SO:0001819	synonymous_variant	0							g.chr5:140209758G>T	AF152484	CCDS47281.1, CCDS47282.1	5q31	2010-11-26			ENSG00000081842	ENSG00000081842		"Cadherins / Protocadherins : Clustered"	8672	other	complex locus constituent	"KIAA0345-like 8"	606312		CNRS2		10380929, 10662547	Standard	NM_018909		Approved	CNR2, CRNR2, PCDH-ALPHA6		Q9UN73	OTTHUMG00000163353	ENST00000529310.1:c.2082G>T	5.37:g.140209758G>T						PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron	p.V694V	NM_018909.2|NM_031848.1|NM_031849.1	NP_061732.1|NP_114036.1|NP_114037.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2196	+								O75283|Q9NRT8	Silent	SNP	ENST00000529310.1	37	c.2082G>T	CCDS47281.1																																																																																				0.677	PCDHA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372829.3	NM_018909		5	112	1	0	0.00198382	1	0.00203341	5	112					T	140209758	G	T	140209758	2	4	127	1	0	0	0	0	0	0	0	1	11528	1335	47	5		5	PCDHA6	5	140209758	Silent	SNP	G	TCGA-EJ-A7NF-01A-11D-A33T-08		140209758	40705502	9	6631											
CDSN	170679	broad.mit.edu	37	chr6	31084574	31084574	+	Intron	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctggaaggccaccattgctaCaggggggaccttgaaccact	10	7	12	12	0	0	1	0	1	0	0	0	3	0	3	4	5	3	1	4	5	3	3			TCGA-EJ-A7NF-01A-11D-A33T-08	TCGA-EJ-A7NF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1f24ca-9ea6-45b4-aae1-2174a9670065	db974012-6d0c-44c3-ae87-e0f05d96abdc	g.chr6:31084574C>T	ENST00000259881.9	+	1	61				PSORS1C1_ENST00000467107.1_3'UTR|CDSN_ENST00000376288.2_Missense_Mutation_p.C273Y	NM_014068.2	NP_054787.2	Q9UIG5	PS1C1_HUMAN	psoriasis susceptibility 1 candidate 1											kidney(1)|ovary(2)|prostate(1)|skin(1)	5						ACCATTGCTACAGGGGGGACC	0.602																																						ENST00000376288.2																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)	10						c.(817-819)tGt>tAt		corneodesmosin							33	32	32					6																	31084574		2098	4153	6251	SO:0001627	intron_variant	1041				cell-cell adhesion|keratinocyte differentiation|skin morphogenesis	cornified envelope|desmosome|extracellular region	protein homodimerization activity	g.chr6:31084574C>T	AB031479	CCDS34390.1	6p21.3	2014-01-28	2003-06-12		ENSG00000204540	ENSG00000204540			17202	protein-coding gene	gene with protein product		613525	"chromosome 6 open reading frame 16"	C6orf16			Standard	NM_014068		Approved	SEEK1	uc003nsl.2	Q9UIG5	OTTHUMG00000031077	ENST00000259881.9:c.-229+1906C>T	6.37:g.31084574C>T						PSORS1C1_ENST00000259881.9_Intron|PSORS1C1_ENST00000467107.1_3'UTR	p.C273Y	NM_001264.4	NP_001255.3	Q15517	CDSN_HUMAN			2	844	-			273			Ser-rich.		B0V083|Q5ST21|Q86WJ8|Q86WJ9|Q96QC3	Missense_Mutation	SNP	ENST00000259881.9	37	c.818G>A	CCDS34390.1	.	.	.	.	.	.	.	.	.	.	C	13.17	2.157978	0.38119	.	.	ENSG00000204539	ENST00000376288	T	0.15017	2.46	4.23	4.23	0.50019	.	0.000000	0.56097	D	0.000034	T	0.20129	0.0484	L	0.36672	1.1	0.33835	D	0.630677	D	0.76494	0.999	D	0.83275	0.996	T	0.01706	-1.1291	10	0.87932	D	0	-19.5842	11.9574	0.52988	0.0:1.0:0.0:0.0	.	273	Q15517	CDSN_HUMAN	Y	273	ENSP00000365465:C273Y	ENSP00000365465:C273Y	C	-	2	0	CDSN	31192553	0.982000	0.34865	0.981000	0.43875	0.261000	0.26267	3.333000	0.52090	2.192000	0.70111	0.549000	0.68633	TGT		0.602	PSORS1C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076110.3	NM_014068		11	31	0	0	0	1	0	11	31					T	31084574	C	T	31084574	1	4	127	0	1	0	0	0	0	0	0	0	3179	478	17	3		3	CDSN	6	31084574	Intron	SNP	C	TCGA-EJ-A7NF-01A-11D-A33T-08		31084574	140030493	10	6632											
UTRN	7402	broad.mit.edu	37	chr6	144768388	144768388	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	accgaaaaagaagaggctttAaataaagtccagacaagcaa	21	5	8	7	1	0	3	0	0	0	3	1	4	1	3	2	1	1	2	2	1	9	3			TCGA-EJ-A7NF-01A-11D-A33T-08	TCGA-EJ-A7NF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1f24ca-9ea6-45b4-aae1-2174a9670065	db974012-6d0c-44c3-ae87-e0f05d96abdc	g.chr6:144768388A>C	ENST00000367545.3	+	14	1656	c.1656A>C	c.(1654-1656)ttA>ttC	p.L552F		NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	552	Interaction with SYNM.				aging (GO:0007568)|muscle cell differentiation (GO:0042692)|muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|neuron projection morphogenesis (GO:0048812)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of sodium ion transmembrane transporter activity (GO:2000649)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dystrophin-associated glycoprotein complex (GO:0016010)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane (GO:0016020)|membrane raft (GO:0045121)|myofibril (GO:0030016)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|protein kinase binding (GO:0019901)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		AAGAGGCTTTAAATAAAGTCC	0.363																																						ENST00000367545.3																			0				NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148						c.(1654-1656)ttA>ttC		utrophin							107	98	101					6																	144768388		2203	4300	6503	SO:0001583	missense	7402				muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding	g.chr6:144768388A>C	AK023675	CCDS34547.1	6q24	2008-02-05	2006-12-13		ENSG00000152818	ENSG00000152818			12635	protein-coding gene	gene with protein product		128240	"utrophin (homologous to dystrophin)"	DMDL		1426262	Standard	NM_007124		Approved	DRP, DRP1	uc003qkt.3	P46939	OTTHUMG00000015746	ENST00000367545.3:c.1656A>C	6.37:g.144768388A>C	ENSP00000356515:p.Leu552Phe						p.L552F	NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)	14	1656	+		Ovarian(120;0.218)	552			Interaction with SYNM.		Q5SYY1|Q5SZ57|Q9UJ40	Missense_Mutation	SNP	ENST00000367545.3	37	c.1656A>C	CCDS34547.1	.	.	.	.	.	.	.	.	.	.	A	19.26	3.794200	0.70452	.	.	ENSG00000152818	ENST00000367529;ENST00000367545	T	0.49139	0.79	5.71	3.33	0.38152	.	0.000000	0.41500	D	0.000873	T	0.44477	0.1295	M	0.71581	2.175	0.80722	D	1	D	0.56968	0.978	P	0.53861	0.736	T	0.48222	-0.9054	10	0.72032	D	0.01	.	9.0806	0.36550	0.5241:0.0:0.4759:0.0	.	552	P46939	UTRO_HUMAN	F	552	ENSP00000356515:L552F	ENSP00000356499:L552F	L	+	3	2	UTRN	144810081	0.998000	0.40836	1.000000	0.80357	0.991000	0.79684	0.660000	0.25009	0.425000	0.26087	0.459000	0.35465	TTA		0.363	UTRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042551.1			14	20	0	0	0	1	0	14	20					C	144768388	A	C	144768388	3	2	127	1	0	0	0	0	1	0	0	0	17100	359	13	5	1710	5	UTRN	6	144768388	Missense_Mutation	SNP	A	TCGA-EJ-A7NF-01A-11D-A33T-08	113683814	144768388	26346679	11	6633											
SASH1	23328	broad.mit.edu	37	chr6	148865535	148865535	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tagatgctgagcagagaatgCagcccaaaattccatcacag	15	7	9	10	0	1	3	1	1	0	2	2	4	2	3	2	0	4	3	2	0	4	2			TCGA-EJ-A7NF-01A-11D-A33T-08	TCGA-EJ-A7NF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1f24ca-9ea6-45b4-aae1-2174a9670065	db974012-6d0c-44c3-ae87-e0f05d96abdc	g.chr6:148865535C>T	ENST00000367467.3	+	18	3404	c.2929C>T	c.(2929-2931)Cag>Tag	p.Q977*		NM_015278.3	NP_056093.3	O94885	SASH1_HUMAN	SAM and SH3 domain containing 1	977					positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of lipopolysaccharide-mediated signaling pathway (GO:0031666)|positive regulation of NIK/NF-kappaB signaling (GO:1901224)|positive regulation of p38MAPK cascade (GO:1900745)|protein polyubiquitination (GO:0000209)|regulation of protein autoubiquitination (GO:1902498)|regulation of protein K63-linked ubiquitination (GO:1900044)	membrane (GO:0016020)|protein complex (GO:0043234)	mitogen-activated protein kinase kinase kinase binding (GO:0031435)|protein C-terminus binding (GO:0008022)|protein complex scaffold (GO:0032947)|protein kinase binding (GO:0019901)			breast(4)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Ovarian(120;0.0169)		OV - Ovarian serous cystadenocarcinoma(155;5.63e-11)|GBM - Glioblastoma multiforme(68;0.0701)		GCAGAGAATGCAGCCCAAAAT	0.567																																						ENST00000367467.3																			0				breast(4)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						c.(2929-2931)Cag>Tag		SAM and SH3 domain containing 1							74	78	77					6																	148865535		2203	4300	6503	SO:0001587	stop_gained	23328						protein binding	g.chr6:148865535C>T	AB018333	CCDS5212.1	6q24.3	2013-01-10			ENSG00000111961	ENSG00000111961		"SAM and SH3 domain containing", "Sterile alpha motif (SAM) domain containing"	19182	protein-coding gene	gene with protein product		607955				9872452, 12771949	Standard	NM_015278		Approved	KIAA0790, dJ323M4.1, SH3D6A	uc003qme.1	O94885	OTTHUMG00000015773	ENST00000367467.3:c.2929C>T	6.37:g.148865535C>T	ENSP00000356437:p.Gln977*						p.Q977*	NM_015278.3	NP_056093.3	O94885	SASH1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.63e-11)|GBM - Glioblastoma multiforme(68;0.0701)	18	3404	+		Ovarian(120;0.0169)	977					Q5TGN5|Q8TAI0|Q9H7R7	Nonsense_Mutation	SNP	ENST00000367467.3	37	c.2929C>T	CCDS5212.1	.	.	.	.	.	.	.	.	.	.	C	45	11.528449	0.99572	.	.	ENSG00000111961	ENST00000367467;ENST00000537769	.	.	.	5.06	5.06	0.68205	.	0.105923	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.45353	T	0.12	-6.4415	18.4263	0.90610	0.0:1.0:0.0:0.0	.	.	.	.	X	977;387	.	ENSP00000356437:Q977X	Q	+	1	0	SASH1	148907228	1.000000	0.71417	0.004000	0.12327	0.964000	0.63967	5.247000	0.65416	2.362000	0.80069	0.650000	0.86243	CAG		0.567	SASH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042619.1	NM_015278		4	63	0	0	0	1	0	4	63					T	148865535	C	T	148865535	4	4	127	1	0	0	0	0	0	1	0	0	13848	711	25	3	2999	3	SASH1	6	148865535	Nonsense_Mutation	SNP	C	TCGA-EJ-A7NF-01A-11D-A33T-08	4097147	148865535	22249532	12	6634											
CSMD1	64478	broad.mit.edu	37	chr8	3611520	3611520	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgaaatggagtcgtagccaaTtcttgctactgataactgga	12	12	10	7	1	1	2	0	2	1	0	2	4	1	4	1	2	4	2	1	2	5	5			TCGA-EJ-A7NF-01A-11D-A33T-08	TCGA-EJ-A7NF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1f24ca-9ea6-45b4-aae1-2174a9670065	db974012-6d0c-44c3-ae87-e0f05d96abdc	g.chr8:3611520T>A	ENST00000520002.1	-	6	1418	c.863A>T	c.(862-864)aAt>aTt	p.N288I	CSMD1_ENST00000602723.1_Missense_Mutation_p.N288I|CSMD1_ENST00000400186.3_Missense_Mutation_p.N288I|CSMD1_ENST00000542608.1_Missense_Mutation_p.N288I|CSMD1_ENST00000602557.1_Missense_Mutation_p.N288I|CSMD1_ENST00000539096.1_Missense_Mutation_p.N288I|CSMD1_ENST00000537824.1_Missense_Mutation_p.N288I			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	288	CUB 2. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		TCGTAGCCAATTCTTGCTACT	0.433																																						ENST00000520002.1																			0				breast(20)|large_intestine(5)	25						c.(862-864)aAt>aTt		CUB and Sushi multiple domains 1							109	108	108					8																	3611520		1870	4104	5974	SO:0001583	missense	64478					integral to membrane		g.chr8:3611520T>A			8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	14026	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 24"	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.863A>T	8.37:g.3611520T>A	ENSP00000430733:p.Asn288Ile					CSMD1_ENST00000537824.1_Missense_Mutation_p.N288I|CSMD1_ENST00000539096.1_Missense_Mutation_p.N288I|CSMD1_ENST00000602723.1_Missense_Mutation_p.N288I|CSMD1_ENST00000400186.3_Missense_Mutation_p.N288I|CSMD1_ENST00000602557.1_Missense_Mutation_p.N288I|CSMD1_ENST00000542608.1_Missense_Mutation_p.N288I	p.N288I			Q96PZ7	CSMD1_HUMAN		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)	6	1418	-		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)	288			CUB 2.		Q0H0J5|Q96QU9|Q96RM4	Missense_Mutation	SNP	ENST00000520002.1	37	c.863A>T		.	.	.	.	.	.	.	.	.	.	T	28.9	4.963613	0.92791	.	.	ENSG00000183117	ENST00000400186;ENST00000520002;ENST00000318252;ENST00000537824;ENST00000542608;ENST00000539096	D;D;D;D;D	0.93763	-3.28;-3.28;-3.28;-3.28;-3.28	6.08	6.08	0.98989	.	.	.	.	.	D	0.97794	0.9276	H	0.95504	3.68	0.45634	D	0.998567	D	0.89917	1.0	D	0.91635	0.999	D	0.98897	1.0775	9	0.87932	D	0	.	16.3246	0.82970	0.0:0.0:0.0:1.0	.	288	E5RIG2	.	I	288;288;150;288;288;288	ENSP00000383047:N288I;ENSP00000430733:N288I;ENSP00000441462:N288I;ENSP00000446243:N288I;ENSP00000441675:N288I	ENSP00000320445:N150I	N	-	2	0	CSMD1	3598928	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	7.738000	0.84966	2.333000	0.79357	0.482000	0.46254	AAT		0.433	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000374500.2	NM_033225		3	28	0	0	0	1	0	3	28					A	3611520	T	A	3611520	3	1	127	1	0	0	0	0	1	0	0	0	3944	1493	52	5	9904	5	CSMD1	8	3611520	Missense_Mutation	SNP	T	TCGA-EJ-A7NF-01A-11D-A33T-08		3611520	142752502	13	6635											
OR51E2	81285	broad.mit.edu	37	chr11	4703754	4703754	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggtcaatggctgcaagcatgCagagaaagaggtacatcgga	14	6	14	7	1	1	2	1	0	0	2	2	4	1	3	0	4	4	5	0	4	4	1			TCGA-EJ-A7NF-01A-11D-A33T-08	TCGA-EJ-A7NF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1f24ca-9ea6-45b4-aae1-2174a9670065	db974012-6d0c-44c3-ae87-e0f05d96abdc	g.chr11:4703754C>T	ENST00000396950.3	-	2	427	c.188G>A	c.(187-189)tGc>tAc	p.C63Y		NM_030774.3	NP_110401.1	Q9H255	O51E2_HUMAN	olfactory receptor, family 51, subfamily E, member 2	63					cellular response to fatty acid (GO:0071398)|detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|positive regulation of blood pressure (GO:0045777)|positive regulation of renin secretion into blood stream (GO:1900135)|steroid hormone mediated signaling pathway (GO:0043401)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)|signaling receptor activity (GO:0038023)|steroid hormone receptor activity (GO:0003707)			NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(3)	23		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;3e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00476)|LUSC - Lung squamous cell carcinoma(625;0.2)		TGCAAGCATGCAGAGAAAGAG	0.502																																						ENST00000396950.3																			0				NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(3)	23						c.(187-189)tGc>tAc		olfactory receptor, family 51, subfamily E, member 2							112	93	100					11																	4703754		2201	4298	6499	SO:0001583	missense	81285				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4703754C>T	AY033942	CCDS7751.1	11p15	2012-08-09			ENSG00000167332	ENSG00000167332		"GPCR / Class A : Olfactory receptors"	15195	protein-coding gene	gene with protein product		611268				11118034	Standard	NM_030774		Approved	PSGR	uc001lzk.2	Q9H255	OTTHUMG00000133362	ENST00000396950.3:c.188G>A	11.37:g.4703754C>T	ENSP00000380153:p.Cys63Tyr						p.C63Y	NM_030774.3	NP_110401.1	Q9H255	O51E2_HUMAN		Epithelial(150;3e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00476)|LUSC - Lung squamous cell carcinoma(625;0.2)	2	427	-		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)	63					B2RA63|Q6IF94	Missense_Mutation	SNP	ENST00000396950.3	37	c.188G>A	CCDS7751.1	.	.	.	.	.	.	.	.	.	.	C	17.42	3.385159	0.61956	.	.	ENSG00000167332	ENST00000396950;ENST00000532598	T;T	0.00551	7.59;6.65	5.0	4.07	0.47477	GPCR, rhodopsin-like superfamily (1);	0.000000	0.50627	D	0.000102	T	0.01353	0.0044	M	0.75777	2.31	0.40746	D	0.982874	D	0.61697	0.99	P	0.57679	0.825	T	0.61850	-0.6978	10	0.87932	D	0	.	7.226	0.26016	0.0:0.5788:0.3334:0.0878	.	63	Q9H255	O51E2_HUMAN	Y	63	ENSP00000380153:C63Y;ENSP00000432644:C63Y	ENSP00000380153:C63Y	C	-	2	0	OR51E2	4660330	0.998000	0.40836	1.000000	0.80357	0.998000	0.95712	1.049000	0.30392	1.298000	0.44778	0.655000	0.94253	TGC		0.502	OR51E2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257198.1	NM_030774		3	45	0	0	0	1	0	3	45					T	4703754	C	T	4703754	3	4	127	1	0	0	0	0	1	0	0	0	11095	710	25	3	778	3	OR51E2	11	4703754	Missense_Mutation	SNP	C	TCGA-EJ-A7NF-01A-11D-A33T-08		4703754	130302762	14	6636											
FAM111B	374393	broad.mit.edu	37	chr11	58893556	58893556	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatgcatctggcaaattggtTgctttgcatacctttgggct	8	15	10	8	0	1	0	0	0	1	0	1	0	1	0	1	3	4	6	1	3	3	5			TCGA-EJ-A7NF-01A-11D-A33T-08	TCGA-EJ-A7NF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1f24ca-9ea6-45b4-aae1-2174a9670065	db974012-6d0c-44c3-ae87-e0f05d96abdc	g.chr11:58893556T>C	ENST00000343597.3	+	4	2177	c.1986T>C	c.(1984-1986)gtT>gtC	p.V662V	FAM111B_ENST00000411426.1_Silent_p.V632V|FAM111B_ENST00000529618.1_Silent_p.V632V	NM_198947.3	NP_945185.1	Q6SJ93	F111B_HUMAN	family with sequence similarity 111, member B	662							catalytic activity (GO:0003824)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(12)|ovary(3)|pancreas(1)|skin(1)	40						GCAAATTGGTTGCTTTGCATA	0.383																																						ENST00000343597.3																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(12)|ovary(3)|pancreas(1)|skin(1)	40						c.(1984-1986)gtT>gtC		family with sequence similarity 111, member B							135	121	126					11																	58893556		2201	4294	6495	SO:0001819	synonymous_variant	374393						catalytic activity	g.chr11:58893556T>C	BC062456	CCDS7972.1, CCDS44611.1	11q12.1	2014-03-13			ENSG00000189057	ENSG00000189057			24200	protein-coding gene	gene with protein product		615584				24268661	Standard	NM_198947		Approved	CANP	uc001nnl.3	Q6SJ93	OTTHUMG00000167279	ENST00000343597.3:c.1986T>C	11.37:g.58893556T>C						FAM111B_ENST00000411426.1_Silent_p.V632V|FAM111B_ENST00000529618.1_Silent_p.V632V	p.V662V	NM_198947.3	NP_945185.1	Q6SJ93	F111B_HUMAN			4	2177	+			662					B4E2G2|Q6P661	Silent	SNP	ENST00000343597.3	37	c.1986T>C	CCDS7972.1																																																																																				0.383	FAM111B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393974.1	NM_198947		10	96	0	0	0	1	0	10	96					C	58893556	T	C	58893556	2	2	127	1	0	0	0	0	0	0	0	1	5400	1799	63	4		4	FAM111B	11	58893556	Silent	SNP	T	TCGA-EJ-A7NF-01A-11D-A33T-08	54189802	58893556	76112960	15	6637											
RSF1	51773	broad.mit.edu	37	chr11	77412452	77412452	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agtactctttggaacttcttCtggtattggactcaatcttt	8	18	7	8	0	5	0	1	0	4	0	5	2	5	2	0	3	2	2	0	3	4	7			TCGA-EJ-A7NF-01A-11D-A33T-08	TCGA-EJ-A7NF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1f24ca-9ea6-45b4-aae1-2174a9670065	db974012-6d0c-44c3-ae87-e0f05d96abdc	g.chr11:77412452C>G	ENST00000308488.6	-	6	2124	c.1822G>C	c.(1822-1824)Gaa>Caa	p.E608Q	RSF1_ENST00000480887.1_Missense_Mutation_p.E356Q|RSF1_ENST00000360355.2_Missense_Mutation_p.E577Q			Q96T23	RSF1_HUMAN	remodeling and spacing factor 1	608					CENP-A containing nucleosome assembly (GO:0034080)|chromatin remodeling (GO:0006338)|DNA-templated transcription, initiation (GO:0006352)|negative regulation of DNA binding (GO:0043392)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|nucleosome positioning (GO:0016584)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of viral transcription (GO:0050434)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|RSF complex (GO:0031213)	histone binding (GO:0042393)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(9)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	43	all_cancers(14;1.54e-17)|all_epithelial(13;4.06e-20)|Ovarian(111;0.152)		Epithelial(5;3e-50)|all cancers(3;6.37e-47)|BRCA - Breast invasive adenocarcinoma(5;9.82e-31)			GGAACTTCTTCTGGTATTGGA	0.423																																						ENST00000308488.6																			0				breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(9)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	43						c.(1822-1824)Gaa>Caa		remodeling and spacing factor 1							107	110	109					11																	77412452		2200	4292	6492	SO:0001583	missense	51773				CenH3-containing nucleosome assembly at centromere|negative regulation of DNA binding|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|positive regulation of viral transcription|transcription initiation, DNA-dependent	RSF complex	histone binding|protein binding|zinc ion binding	g.chr11:77412452C>G	AF380176, AF227948	CCDS8253.1	11q14.1	2013-01-28	2006-05-25	2006-05-25	ENSG00000048649	ENSG00000048649		"Zinc fingers, PHD-type"	18118	protein-coding gene	gene with protein product		608522	"hepatitis B virus x associated protein"	HBXAP		11788598, 12972596	Standard	NM_016578		Approved	XAP8, RSF-1, p325	uc001oyn.3	Q96T23	OTTHUMG00000150433	ENST00000308488.6:c.1822G>C	11.37:g.77412452C>G	ENSP00000311513:p.Glu608Gln					RSF1_ENST00000480887.1_Missense_Mutation_p.E356Q|RSF1_ENST00000360355.2_Missense_Mutation_p.E577Q	p.E608Q			Q96T23	RSF1_HUMAN	Epithelial(5;3e-50)|all cancers(3;6.37e-47)|BRCA - Breast invasive adenocarcinoma(5;9.82e-31)		6	2124	-	all_cancers(14;1.54e-17)|all_epithelial(13;4.06e-20)|Ovarian(111;0.152)		608					Q86X86|Q9H3L8|Q9NVZ8|Q9NYU0	Missense_Mutation	SNP	ENST00000308488.6	37	c.1822G>C	CCDS8253.1	.	.	.	.	.	.	.	.	.	.	C	17.13	3.311757	0.60414	.	.	ENSG00000048649	ENST00000308488;ENST00000480887;ENST00000360355;ENST00000526324;ENST00000528095	D;D;D;D;T	0.87966	-2.22;-2.25;-2.22;-2.32;0.76	5.23	5.23	0.72850	.	0.000000	0.56097	D	0.000026	D	0.86100	0.5852	L	0.29908	0.895	0.34679	D	0.7245	P	0.52842	0.956	P	0.50082	0.63	D	0.90044	0.4144	10	0.56958	D	0.05	-20.7044	18.6023	0.91253	0.0:1.0:0.0:0.0	.	608	Q96T23	RSF1_HUMAN	Q	608;356;577;409;607	ENSP00000311513:E608Q;ENSP00000434509:E356Q;ENSP00000353511:E577Q;ENSP00000432022:E409Q;ENSP00000436408:E607Q	ENSP00000311513:E608Q	E	-	1	0	RSF1	77090100	0.700000	0.27796	1.000000	0.80357	0.983000	0.72400	2.020000	0.41010	2.726000	0.93360	0.655000	0.94253	GAA		0.423	RSF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318075.2	NM_016578		33	64	0	0	0	1	0	33	64					G	77412452	C	G	77412452	3	3	127	1	0	0	0	0	1	0	0	0	13699	922	32	5	2547	5	RSF1	11	77412452	Missense_Mutation	SNP	C	TCGA-EJ-A7NF-01A-11D-A33T-08	18518896	77412452	57594064	16	6638											
HTR3B	9177	broad.mit.edu	37	chr11	113813797	113813797	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	acctggggagcttctacctgCcacccaactgccgagccagg	8	6	11	16	1	1	0	0	0	1	0	1	2	1	1	6	3	6	1	6	3	2	2			TCGA-EJ-A7NF-01A-11D-A33T-08	TCGA-EJ-A7NF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1f24ca-9ea6-45b4-aae1-2174a9670065	db974012-6d0c-44c3-ae87-e0f05d96abdc	g.chr11:113813797C>T	ENST00000260191.2	+	7	1047	c.790C>T	c.(790-792)Cca>Tca	p.P264S	HTR3B_ENST00000537778.1_Missense_Mutation_p.P253S	NM_006028.4	NP_006019.1	O95264	5HT3B_HUMAN	5-hydroxytryptamine (serotonin) receptor 3B, ionotropic	264					cation transmembrane transport (GO:0098655)|ion transmembrane transport (GO:0034220)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	ion channel activity (GO:0005216)|serotonin receptor activity (GO:0004993)|serotonin-activated cation-selective channel activity (GO:0005232)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(11)	20		all_cancers(61;6.81e-18)|all_epithelial(67;6.67e-11)|all_hematologic(158;4.67e-05)|Melanoma(852;0.000316)|Acute lymphoblastic leukemia(157;0.000976)|Breast(348;0.0101)|Prostate(24;0.0154)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;3.04e-06)|Epithelial(105;1.98e-05)|all cancers(92;0.000201)|OV - Ovarian serous cystadenocarcinoma(223;0.151)	Ergoloid mesylate(DB01049)	CTTCTACCTGCCACCCAACTG	0.587																																						ENST00000260191.2																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(11)	20						c.(790-792)Cca>Tca		5-hydroxytryptamine (serotonin) receptor 3B, ionotropic							106	84	91					11																	113813797		2201	4296	6497	SO:0001583	missense	9177				synaptic transmission	integral to plasma membrane|postsynaptic membrane	serotonin receptor activity|serotonin-activated cation-selective channel activity	g.chr11:113813797C>T	AF080582	CCDS8364.1	11q23.1	2012-05-22	2012-02-03		ENSG00000149305	ENSG00000149305		"5-HT (serotonin) receptors", "Ligand-gated ion channels / 5-HT (serotonin) receptors, ionotropic"	5298	protein-coding gene	gene with protein product		604654	"5-hydroxytryptamine (serotonin) receptor 3B"			9950429, 10521471	Standard	NM_006028		Approved	5-HT3B	uc001pok.3	O95264	OTTHUMG00000168210	ENST00000260191.2:c.790C>T	11.37:g.113813797C>T	ENSP00000260191:p.Pro264Ser					HTR3B_ENST00000537778.1_Missense_Mutation_p.P253S	p.P264S	NM_006028.4	NP_006019.1	O95264	5HT3B_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.04e-06)|Epithelial(105;1.98e-05)|all cancers(92;0.000201)|OV - Ovarian serous cystadenocarcinoma(223;0.151)	7	1047	+		all_cancers(61;6.81e-18)|all_epithelial(67;6.67e-11)|all_hematologic(158;4.67e-05)|Melanoma(852;0.000316)|Acute lymphoblastic leukemia(157;0.000976)|Breast(348;0.0101)|Prostate(24;0.0154)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)	264					B0YJ23|Q0VJC3	Missense_Mutation	SNP	ENST00000260191.2	37	c.790C>T	CCDS8364.1	.	.	.	.	.	.	.	.	.	.	C	23.9	4.468770	0.84533	.	.	ENSG00000149305	ENST00000260191;ENST00000537778	D;D	0.88586	-2.4;-2.4	5.41	5.41	0.78517	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.000000	0.85682	D	0.000000	D	0.95404	0.8508	M	0.86805	2.84	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.95843	0.8868	10	0.87932	D	0	-14.9768	19.1959	0.93689	0.0:1.0:0.0:0.0	.	253;264	O95264-2;O95264	.;5HT3B_HUMAN	S	264;253	ENSP00000260191:P264S;ENSP00000443118:P253S	ENSP00000260191:P264S	P	+	1	0	HTR3B	113319007	1.000000	0.71417	0.728000	0.30774	0.647000	0.38526	7.727000	0.84838	2.549000	0.85964	0.650000	0.86243	CCA		0.587	HTR3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398842.1	NM_006028		16	23	0	0	0	1	0	16	23					T	113813797	C	T	113813797	3	4	127	1	0	0	0	0	1	0	0	0	7445	739	26	3	816	3	HTR3B	11	113813797	Missense_Mutation	SNP	C	TCGA-EJ-A7NF-01A-11D-A33T-08	36401345	113813797	21192719	17	6639											
IQSEC3	440073	broad.mit.edu	37	chr12	274616	274616	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acagattctcaaactttgccCgaagaagaagagctcctcca	14	8	7	12	1	1	4	1	0	1	4	4	5	3	4	3	0	3	1	3	0	4	2			TCGA-EJ-A7NF-01A-11D-A33T-08	TCGA-EJ-A7NF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1f24ca-9ea6-45b4-aae1-2174a9670065	db974012-6d0c-44c3-ae87-e0f05d96abdc	g.chr12:274616C>T	ENST00000538872.1	+	10	2844	c.2726C>T	c.(2725-2727)cCg>cTg	p.P909L	IQSEC3_ENST00000382841.2_Missense_Mutation_p.P606L|RP11-598F7.6_ENST00000537295.1_lincRNA|RP11-598F7.5_ENST00000540136.1_RNA|IQSEC3_ENST00000326261.4_Missense_Mutation_p.P909L			Q9UPP2	IQEC3_HUMAN	IQ motif and Sec7 domain 3	909	PH.				actin cytoskeleton organization (GO:0030036)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|inhibitory synapse (GO:0060077)|postsynaptic membrane (GO:0045211)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(10;0.016)|all_lung(10;0.0222)|all_epithelial(11;0.0262)|Lung NSC(10;0.031)		OV - Ovarian serous cystadenocarcinoma(31;0.00456)	LUAD - Lung adenocarcinoma(1;0.172)|Lung(1;0.179)		AAACTTTGCCCGAAGAAGAAG	0.522																																						ENST00000538872.1																			0				central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						c.(2725-2727)cCg>cTg		IQ motif and Sec7 domain 3							179	169	172					12																	274616		2203	4300	6503	SO:0001583	missense	440073				regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity	g.chr12:274616C>T	AB029033	CCDS31725.1, CCDS53728.1	12p13.33	2014-03-18			ENSG00000120645	ENSG00000120645			29193	protein-coding gene	gene with protein product		612118				10470851	Standard	NM_001170738		Approved	KIAA1110, MGC30156	uc001qhw.2	Q9UPP2	OTTHUMG00000167975	ENST00000538872.1:c.2726C>T	12.37:g.274616C>T	ENSP00000437554:p.Pro909Leu					RP11-598F7.5_ENST00000540136.1_RNA|IQSEC3_ENST00000326261.4_Missense_Mutation_p.P909L|IQSEC3_ENST00000382841.2_Missense_Mutation_p.P606L	p.P909L			Q9UPP2	IQEC3_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00456)	LUAD - Lung adenocarcinoma(1;0.172)|Lung(1;0.179)	10	2844	+	all_cancers(10;0.016)|all_lung(10;0.0222)|all_epithelial(11;0.0262)|Lung NSC(10;0.031)		909			PH.		A6NIF2|A6NKV9|Q8TB43	Missense_Mutation	SNP	ENST00000538872.1	37	c.2726C>T	CCDS53728.1	.	.	.	.	.	.	.	.	.	.	C	17.88	3.498460	0.64298	.	.	ENSG00000120645	ENST00000538872;ENST00000326261;ENST00000382841	T;T;T	0.29142	1.58;1.58;1.58	4.87	4.87	0.63330	Pleckstrin homology-type (1);Pleckstrin homology domain (1);	0.000000	0.85682	D	0.000000	T	0.47673	0.1458	M	0.72894	2.215	0.80722	D	1	D;P	0.63880	0.993;0.582	P;B	0.52424	0.698;0.074	T	0.49952	-0.8884	10	0.52906	T	0.07	.	18.5623	0.91105	0.0:1.0:0.0:0.0	.	909;606	Q9UPP2;Q9UPP2-2	IQEC3_HUMAN;.	L	909;909;606	ENSP00000437554:P909L;ENSP00000315662:P909L;ENSP00000372292:P606L	ENSP00000315662:P909L	P	+	2	0	IQSEC3	144877	0.998000	0.40836	0.951000	0.38953	0.876000	0.50452	3.697000	0.54764	2.684000	0.91462	0.650000	0.86243	CCG		0.522	IQSEC3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397382.3	XM_495902		24	48	0	0	0	1	0	24	48					T	274616	C	T	274616	3	4	127	1	0	0	0	0	1	0	0	0	7819	652	23	2	2764	2	IQSEC3	12	274616	Missense_Mutation	SNP	C	TCGA-EJ-A7NF-01A-11D-A33T-08		274616	133577279	18	6640											
SOAT2	8435	broad.mit.edu	37	chr12	53509273	53509273	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgtccaccctgttggcgccGtaccaggccctacggctgtg	4	9	12	16	3	0	0	0	0	0	0	1	0	1	0	5	3	2	3	5	3	2	3	rs151267658	byFrequency	TCGA-EJ-A7NF-01A-11D-A33T-08	TCGA-EJ-A7NF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1f24ca-9ea6-45b4-aae1-2174a9670065	db974012-6d0c-44c3-ae87-e0f05d96abdc	g.chr12:53509273G>A	ENST00000301466.3	+	6	603	c.543G>A	c.(541-543)ccG>ccA	p.P181P		NM_003578.3	NP_003569.1	O75908	SOAT2_HUMAN	sterol O-acyltransferase 2	181					cholesterol efflux (GO:0033344)|cholesterol esterification (GO:0034435)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|intestinal cholesterol absorption (GO:0030299)|macrophage derived foam cell differentiation (GO:0010742)|very-low-density lipoprotein particle assembly (GO:0034379)	brush border (GO:0005903)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	cholesterol binding (GO:0015485)|cholesterol O-acyltransferase activity (GO:0034736)|fatty-acyl-CoA binding (GO:0000062)|transferase activity, transferring acyl groups (GO:0016746)	p.P181P(1)		endometrium(5)|kidney(3)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|skin(1)	18					Hesperetin(DB01094)	TGTTGGCGCCGTACCAGGCCC	0.677													G|||	2	0.000399361	0.0015	0	5008	,	,		17361	0		0	False		,,,				2504	0					ENST00000301466.3																			1	Substitution - coding silent(1)	p.P181P(1)	large_intestine(1)	endometrium(5)|kidney(3)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|skin(1)	18						c.(541-543)ccG>ccA		sterol O-acyltransferase 2		G		3,4403	6.2+/-15.9	0,3,2200	41	41	41		543	2.7	1	12	dbSNP_134	41	0,8600		0,0,4300	no	coding-synonymous	SOAT2	NM_003578.3		0,3,6500	AA,AG,GG		0.0,0.0681,0.0231		181/523	53509273	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	8435				cholesterol efflux|cholesterol esterification|cholesterol homeostasis|cholesterol metabolic process|macrophage derived foam cell differentiation|very-low-density lipoprotein particle assembly	brush border|endoplasmic reticulum membrane|integral to membrane|microsome	cholesterol binding|cholesterol O-acyltransferase activity|fatty-acyl-CoA binding	g.chr12:53509273G>A	AF059203	CCDS8847.1	12q13.13	2012-09-20			ENSG00000167780	ENSG00000167780	2.3.1.26		11178	protein-coding gene	gene with protein product		601311				9756920	Standard	NM_003578		Approved	ACAT2	uc001sbv.3	O75908	OTTHUMG00000169774	ENST00000301466.3:c.543G>A	12.37:g.53509273G>A							p.P181P	NM_003578.3	NP_003569.1	O75908	SOAT2_HUMAN			6	603	+			181					F5H7W4|I6L9H9|Q4VB99|Q4VBA1|Q96TD4|Q9UNR2	Silent	SNP	ENST00000301466.3	37	c.543G>A	CCDS8847.1																																																																																				0.677	SOAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405817.1			21	34	0	0	0	1	0	21	34					A	53509273	G	A	53509273	2	1	127	1	0	0	0	0	0	0	0	1	14911	1132	40	1		1	SOAT2	12	53509273	Silent	SNP	G	TCGA-EJ-A7NF-01A-11D-A33T-08	53234657	53509273	80342622	19	6641											
FLRT2	23768	broad.mit.edu	37	chr14	86089586	86089586	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggcgctacacctcccagaaGtggaaatacaaccggggccg	11	4	13	13	3	0	1	0	0	0	1	1	2	1	2	4	4	3	1	4	4	5	2			TCGA-EJ-A7NF-01A-11D-A33T-08	TCGA-EJ-A7NF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1f24ca-9ea6-45b4-aae1-2174a9670065	db974012-6d0c-44c3-ae87-e0f05d96abdc	g.chr14:86089586G>T	ENST00000330753.4	+	2	2495	c.1728G>T	c.(1726-1728)aaG>aaT	p.K576N	FLRT2_ENST00000554746.1_Missense_Mutation_p.K576N	NM_013231.4	NP_037363.1	O43155	FLRT2_HUMAN	fibronectin leucine rich transmembrane protein 2	576					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|intracellular signal transduction (GO:0035556)|regulation of neuron migration (GO:2001222)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|proteinaceous extracellular matrix (GO:0005578)	chemorepellent activity (GO:0045499)|protein binding, bridging (GO:0030674)|receptor signaling protein activity (GO:0005057)			NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	73				BRCA - Breast invasive adenocarcinoma(234;0.0319)		CCTCCCAGAAGTGGAAATACA	0.542																																						ENST00000330753.4																			0				NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	73						c.(1726-1728)aaG>aaT		fibronectin leucine rich transmembrane protein 2							75	82	80					14																	86089586		2203	4300	6503	SO:0001583	missense	23768				cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity	g.chr14:86089586G>T	AF169676	CCDS9877.1	14q24-q32	2013-02-11				ENSG00000185070		"Fibronectin type III domain containing"	3761	protein-coding gene	gene with protein product		604807				10644439, 16872596	Standard	XM_005267490		Approved		uc001xvr.3	O43155		ENST00000330753.4:c.1728G>T	14.37:g.86089586G>T	ENSP00000332879:p.Lys576Asn					FLRT2_ENST00000554746.1_Missense_Mutation_p.K576N	p.K576N	NM_013231.4	NP_037363.1	O43155	FLRT2_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0319)	2	2495	+			576					A0AV84|B7ZLP3	Missense_Mutation	SNP	ENST00000330753.4	37	c.1728G>T	CCDS9877.1	.	.	.	.	.	.	.	.	.	.	G	5.569	0.289780	0.10567	.	.	ENSG00000185070	ENST00000330753;ENST00000554746;ENST00000535800	T;T	0.55930	0.49;0.49	6.17	5.28	0.74379	.	0.054577	0.64402	D	0.000001	T	0.44159	0.1280	N	0.16368	0.405	0.58432	D	0.999992	D	0.58620	0.983	P	0.50314	0.637	T	0.28267	-1.0049	10	0.11182	T	0.66	-24.028	15.5098	0.75772	0.0658:0.0:0.9342:0.0	.	576	O43155	FLRT2_HUMAN	N	576;576;229	ENSP00000332879:K576N;ENSP00000451050:K576N	ENSP00000332879:K576N	K	+	3	2	FLRT2	85159339	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.690000	0.54713	1.621000	0.50320	0.655000	0.94253	AAG		0.542	FLRT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413193.1			4	100	1	0	0.150653	1	0.150653	4	100					T	86089586	G	T	86089586	3	4	127	1	0	0	0	0	1	0	0	0	5939	1020	36	5	1730	5	FLRT2	14	86089586	Missense_Mutation	SNP	G	TCGA-EJ-A7NF-01A-11D-A33T-08		86089586	21259954	20	6642											
PACS2	23241	broad.mit.edu	37	chr14	105818794	105818794	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacagacctggccctgacctTctccttgcaggtgagtcttt	6	12	10	13	0	2	3	0	2	2	1	3	4	2	3	4	2	1	1	4	2	0	3			TCGA-EJ-A7NF-01A-11D-A33T-08	TCGA-EJ-A7NF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1f24ca-9ea6-45b4-aae1-2174a9670065	db974012-6d0c-44c3-ae87-e0f05d96abdc	g.chr14:105818794T>C	ENST00000325438.8	+	3	791	c.287T>C	c.(286-288)tTc>tCc	p.F96S	PACS2_ENST00000547217.1_Intron|PACS2_ENST00000447393.1_Missense_Mutation_p.F96S|PACS2_ENST00000430725.2_Missense_Mutation_p.F29S|PACS2_ENST00000458164.2_Missense_Mutation_p.F96S			Q86VP3	PACS2_HUMAN	phosphofurin acidic cluster sorting protein 2	96					apoptotic process (GO:0006915)|autophagic vacuole assembly (GO:0000045)|protein localization to pre-autophagosomal structure (GO:0034497)|protein targeting to plasma membrane (GO:0072661)|viral process (GO:0016032)	endoplasmic reticulum (GO:0005783)|mitochondrion (GO:0005739)				endometrium(2)|kidney(2)|lung(7)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	21		all_cancers(154;0.0351)|all_epithelial(191;0.153)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.0145)|Epithelial(46;0.036)	Epithelial(152;0.138)		GCCCTGACCTTCTCCTTGCAG	0.607											OREG0022968	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000447393.1																			0				endometrium(2)|kidney(2)|lung(7)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	21						c.(286-288)tTc>tCc		phosphofurin acidic cluster sorting protein 2							203	165	178					14																	105818794		2203	4300	6503	SO:0001583	missense	23241				apoptosis|interspecies interaction between organisms	endoplasmic reticulum lumen|mitochondrion		g.chr14:105818794T>C	AB011174	CCDS32168.1, CCDS45178.1, CCDS45178.2, CCDS58339.1	14q32	2005-02-15	2005-02-15	2005-02-15		ENSG00000179364			23794	protein-coding gene	gene with protein product		610423	"phosphofurin acidic cluster sorting protein 1-like"	PACS1L		15692567	Standard	NM_001100913		Approved	KIAA0602	uc001yqu.3	Q86VP3	OTTHUMG00000170450	ENST00000325438.8:c.287T>C	14.37:g.105818794T>C	ENSP00000321834:p.Phe96Ser		OREG0022968	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1392	PACS2_ENST00000547217.1_Intron|PACS2_ENST00000325438.8_Missense_Mutation_p.F96S|PACS2_ENST00000458164.2_Missense_Mutation_p.F96S|PACS2_ENST00000430725.2_Missense_Mutation_p.F29S	p.F96S	NM_015197.3	NP_056012.2	Q86VP3	PACS2_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.0145)|Epithelial(46;0.036)	Epithelial(152;0.138)	3	462	+		all_cancers(154;0.0351)|all_epithelial(191;0.153)|Melanoma(154;0.155)	96					A2VDJ9|G8JLK3|O60342|Q6P191|Q96FL7	Missense_Mutation	SNP	ENST00000325438.8	37	c.287T>C	CCDS32168.1	.	.	.	.	.	.	.	.	.	.	T	24.1	4.492162	0.84962	.	.	ENSG00000179364	ENST00000430725;ENST00000325438;ENST00000458164;ENST00000447393;ENST00000546915	T;T;T;T	0.43294	1.18;0.96;0.95;0.97	4.71	4.71	0.59529	.	0.000000	0.85682	U	0.000000	T	0.68393	0.2996	M	0.88570	2.965	0.80722	D	1	D;D;D;D	0.89917	1.0;0.969;0.995;0.999	D;P;P;D	0.80764	0.99;0.891;0.856;0.994	T	0.75569	-0.3272	10	0.87932	D	0	-29.2045	13.1233	0.59340	0.0:0.0:0.0:1.0	.	96;96;96;105	E9PB38;Q86VP3-2;Q86VP3;Q86VP3-3	.;.;PACS2_HUMAN;.	S	29;96;96;96;29	ENSP00000393524:F29S;ENSP00000321834:F96S;ENSP00000399732:F96S;ENSP00000393559:F96S	ENSP00000321834:F96S	F	+	2	0	PACS2	104889839	1.000000	0.71417	1.000000	0.80357	0.917000	0.54804	7.526000	0.81920	1.970000	0.57323	0.459000	0.35465	TTC		0.607	PACS2-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000409209.1	XM_377355		17	47	0	0	0	1	0	17	47					C	105818794	T	C	105818794	3	2	127	1	0	0	0	0	1	0	0	0	11373	1783	62	4	297	4	PACS2	14	105818794	Missense_Mutation	SNP	T	TCGA-EJ-A7NF-01A-11D-A33T-08	19729208	105818794	1530746	21	6643											
CTDSPL2	51496	broad.mit.edu	37	chr15	44783110	44783110	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctaatggagcagcttactcaAatcaagcagttcaagtgaga	15	9	9	8	0	3	1	3	1	0	1	3	3	3	2	0	1	4	4	0	1	5	3			TCGA-EJ-A7NF-01A-11D-A33T-08	TCGA-EJ-A7NF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1f24ca-9ea6-45b4-aae1-2174a9670065	db974012-6d0c-44c3-ae87-e0f05d96abdc	g.chr15:44783110A>G	ENST00000260327.4	+	5	1167	c.604A>G	c.(604-606)Aat>Gat	p.N202D	CTDSPL2_ENST00000558966.1_Missense_Mutation_p.N202D|CTDSPL2_ENST00000396780.1_Intron|CTDSPL2_ENST00000558373.1_Intron	NM_016396.2	NP_057480.2	Q05D32	CTSL2_HUMAN	CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) small phosphatase like 2	202							phosphoprotein phosphatase activity (GO:0004721)			breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(2)	13		all_cancers(109;4.36e-14)|all_epithelial(112;9.8e-12)|Lung NSC(122;1.66e-07)|all_lung(180;1.47e-06)|Melanoma(134;0.0122)		all cancers(107;1.02e-20)|GBM - Glioblastoma multiforme(94;1.49e-06)|COAD - Colon adenocarcinoma(120;0.0857)|Colorectal(105;0.0905)		AGCTTACTCAAATCAAGCAGT	0.393																																						ENST00000260327.4																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(2)	13						c.(604-606)Aat>Gat		CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) small phosphatase like 2							165	159	161					15																	44783110		2198	4298	6496	SO:0001583	missense	51496						phosphoprotein phosphatase activity	g.chr15:44783110A>G	AF161478	CCDS10110.1	15q15.3-q21.1	2010-06-21			ENSG00000137770	ENSG00000137770		"Serine/threonine phosphatases / CTD aspartate-based phosphatases"	26936	protein-coding gene	gene with protein product							Standard	NM_016396		Approved	HSPC129, FLJ10523	uc001ztr.3	Q05D32	OTTHUMG00000131159	ENST00000260327.4:c.604A>G	15.37:g.44783110A>G	ENSP00000260327:p.Asn202Asp					CTDSPL2_ENST00000558966.1_Missense_Mutation_p.N202D|CTDSPL2_ENST00000396780.1_Intron|CTDSPL2_ENST00000558373.1_Intron	p.N202D	NM_016396.2	NP_057480.2	Q05D32	CTSL2_HUMAN		all cancers(107;1.02e-20)|GBM - Glioblastoma multiforme(94;1.49e-06)|COAD - Colon adenocarcinoma(120;0.0857)|Colorectal(105;0.0905)	5	1167	+		all_cancers(109;4.36e-14)|all_epithelial(112;9.8e-12)|Lung NSC(122;1.66e-07)|all_lung(180;1.47e-06)|Melanoma(134;0.0122)	202					Q3ZTU1|Q6AI06|Q8IYI9|Q9NVT2|Q9NZX8|Q9P030	Missense_Mutation	SNP	ENST00000260327.4	37	c.604A>G	CCDS10110.1	.	.	.	.	.	.	.	.	.	.	A	12.45	1.942146	0.34283	.	.	ENSG00000137770	ENST00000260327	T	0.13538	2.58	4.9	3.77	0.43336	.	0.503154	0.24115	N	0.041409	T	0.07413	0.0187	N	0.14661	0.345	0.80722	D	1	B	0.12630	0.006	B	0.11329	0.006	T	0.26677	-1.0096	10	0.15066	T	0.55	-4.7262	9.4826	0.38911	0.8496:0.0:0.1504:0.0	.	202	Q05D32	CTSL2_HUMAN	D	202	ENSP00000260327:N202D	ENSP00000260327:N202D	N	+	1	0	CTDSPL2	42570402	0.926000	0.31397	1.000000	0.80357	0.988000	0.76386	1.824000	0.39072	0.819000	0.34492	0.459000	0.35465	AAT		0.393	CTDSPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253851.1	NM_016396		27	57	0	0	0	1	0	27	57					G	44783110	A	G	44783110	3	3	127	1	0	0	0	0	1	0	0	0	4006	14	1	4	618	4	CTDSPL2	15	44783110	Missense_Mutation	SNP	A	TCGA-EJ-A7NF-01A-11D-A33T-08		44783110	57748282	22	6644											
ACSBG1	23205	broad.mit.edu	37	chr15	78474320	78474320	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcagactgaccttcagggcGtcgggttcggcaaagcaaac	10	6	14	11	3	1	2	1	1	0	1	3	2	1	2	1	4	2	4	1	4	2	2			TCGA-EJ-A7NF-01A-11D-A33T-08	TCGA-EJ-A7NF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1f24ca-9ea6-45b4-aae1-2174a9670065	db974012-6d0c-44c3-ae87-e0f05d96abdc	g.chr15:78474320G>A	ENST00000258873.4	-	8	1267	c.1062C>T	c.(1060-1062)gaC>gaT	p.D354D	ACSBG1_ENST00000541759.1_Silent_p.D112D|ACSBG1_ENST00000560817.1_Silent_p.D112D	NM_001199377.1|NM_015162.4	NP_001186306.1|NP_055977.3	Q96GR2	ACBG1_HUMAN	acyl-CoA synthetase bubblegum family member 1	354					long-chain fatty acid metabolic process (GO:0001676)|myelination (GO:0042552)|ovarian follicle atresia (GO:0001552)|response to glucocorticoid (GO:0051384)|very long-chain fatty acid metabolic process (GO:0000038)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)	ATP binding (GO:0005524)|long-chain fatty acid-CoA ligase activity (GO:0004467)|very long-chain fatty acid-CoA ligase activity (GO:0031957)			endometrium(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	37						CCTTCAGGGCGTCGGGTTCGG	0.607																																						ENST00000258873.4																			0				endometrium(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	37						c.(1060-1062)gaC>gaT		acyl-CoA synthetase bubblegum family member 1							94	74	80					15																	78474320		2196	4293	6489	SO:0001819	synonymous_variant	23205				long-chain fatty acid metabolic process|myelination|very long-chain fatty acid metabolic process	cytoplasmic membrane-bounded vesicle|endoplasmic reticulum|microsome	ATP binding|long-chain fatty acid-CoA ligase activity|very long-chain fatty acid-CoA ligase activity	g.chr15:78474320G>A	AB014531	CCDS10298.1	15q23-q24	2006-02-09			ENSG00000103740	ENSG00000103740		"Acyl-CoA synthetase family"	29567	protein-coding gene	gene with protein product	"bubblegum", "very long-chain acyl-CoA synthetase", "lipidosin"	614362				9734811, 10954726	Standard	NM_015162		Approved	BGM, FLJ30320, MGC14352, BG1, KIAA0631, hBG1, hsBG	uc002bdh.3	Q96GR2	OTTHUMG00000143734	ENST00000258873.4:c.1062C>T	15.37:g.78474320G>A						ACSBG1_ENST00000560817.1_Silent_p.D112D|ACSBG1_ENST00000541759.1_Silent_p.D112D	p.D354D	NM_001199377.1|NM_015162.4	NP_001186306.1|NP_055977.3	Q96GR2	ACBG1_HUMAN			8	1267	-			354					B2RB61|O75126|Q76N27|Q9HC26	Silent	SNP	ENST00000258873.4	37	c.1062C>T	CCDS10298.1																																																																																				0.607	ACSBG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000289802.2	NM_015162		12	35	0	0	0	1	0	12	35					A	78474320	G	A	78474320	2	1	127	1	0	0	0	0	0	0	0	1	173	1136	40	1		1	ACSBG1	15	78474320	Silent	SNP	G	TCGA-EJ-A7NF-01A-11D-A33T-08	33691210	78474320	24057072	23	6645											
ARL16	339231	broad.mit.edu	37	chr17	79650772	79650772	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccgacgcccgtggcccccagCaggagacacattccgtgctt	7	6	11	17	4	0	1	0	0	0	1	1	3	1	1	5	2	2	2	5	2	0	2			TCGA-EJ-A7NF-01A-11D-A33T-08	TCGA-EJ-A7NF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1f24ca-9ea6-45b4-aae1-2174a9670065	db974012-6d0c-44c3-ae87-e0f05d96abdc	g.chr17:79650772C>G	ENST00000397498.4	-	1	182	c.84G>C	c.(82-84)ctG>ctC	p.L28L	HGS_ENST00000329138.4_5'Flank|ARL16_ENST00000576135.1_5'Flank|ARL16_ENST00000570561.1_5'Flank|ARL16_ENST00000573392.1_5'Flank|ARL16_ENST00000574938.1_5'Flank	NM_001040025.1	NP_001035114.1	Q0P5N6	ARL16_HUMAN	ADP-ribosylation factor-like 16	28					small GTPase mediated signal transduction (GO:0007264)	intracellular (GO:0005622)	GTP binding (GO:0005525)			central_nervous_system(1)|endometrium(1)|lung(4)|skin(1)	7	all_neural(118;0.0878)|all_lung(278;0.23)		BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0739)			TGGCCCCCAGCAGGAGACACA	0.701																																						ENST00000397498.4																			0				central_nervous_system(1)|endometrium(1)|lung(4)|skin(1)	7						c.(82-84)ctG>ctC		ADP-ribosylation factor-like 16							14	18	17					17																	79650772		1906	4104	6010	SO:0001819	synonymous_variant	339231						GTP binding	g.chr17:79650772C>G		CCDS45813.1	17q25.3	2014-05-09				ENSG00000214087		"ADP-ribosylation factors-like", "ADP-ribosylation factors"	27902	protein-coding gene	gene with protein product						12477932	Standard	NM_001040025		Approved		uc002kbf.3	Q0P5N6		ENST00000397498.4:c.84G>C	17.37:g.79650772C>G							p.L28L	NM_001040025.1	NP_001035114.1	Q0P5N6	ARL16_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0739)		1	182	-	all_neural(118;0.0878)|all_lung(278;0.23)		28						Silent	SNP	ENST00000397498.4	37	c.84G>C	CCDS45813.1																																																																																				0.701	ARL16-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440514.1	XM_290777		4	9	0	0	0	1	0	4	9					G	79650772	C	G	79650772	2	3	127	1	0	0	0	0	0	0	0	1	932	697	25	5		5	ARL16	17	79650772	Silent	SNP	C	TCGA-EJ-A7NF-01A-11D-A33T-08		79650772	1544438	24	6646											
KCNG2	26251	broad.mit.edu	37	chr18	77659468	77659468	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcgagctgggcgcgcgccgCgacttctccagcgtgcccgc	3	5	15	18	9	1	0	0	0	1	0	2	2	1	0	3	1	3	1	3	1	0	1			TCGA-EJ-A7NF-01A-11D-A33T-08	TCGA-EJ-A7NF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1f24ca-9ea6-45b4-aae1-2174a9670065	db974012-6d0c-44c3-ae87-e0f05d96abdc	g.chr18:77659468C>T	ENST00000316249.3	+	2	1053	c.1053C>T	c.(1051-1053)cgC>cgT	p.R351R	KCNG2_ENST00000590307.1_3'UTR	NM_012283.1	NP_036415.1	Q9UJ96	KCNG2_HUMAN	potassium voltage-gated channel, subfamily G, member 2	351					energy reserve metabolic process (GO:0006112)|potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of heart contraction (GO:0008016)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)	p.R351R(1)		breast(2)|endometrium(4)|lung(7)|skin(1)|upper_aerodigestive_tract(4)	18		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;6.92e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0244)		GCGCGCGCCGCGACTTCTCCA	0.721																																						ENST00000316249.3																			1	Substitution - coding silent(1)	p.R351R(1)	endometrium(1)	breast(2)|endometrium(4)|lung(7)|skin(1)|upper_aerodigestive_tract(4)	18						c.(1051-1053)cgC>cgT		potassium voltage-gated channel, subfamily G, member 2							17	18	18					18																	77659468		2200	4297	6497	SO:0001819	synonymous_variant	26251				energy reserve metabolic process|regulation of heart contraction|regulation of insulin secretion	voltage-gated potassium channel complex	delayed rectifier potassium channel activity	g.chr18:77659468C>T	AJ011021	CCDS12019.1	18q23	2011-07-05			ENSG00000178342	ENSG00000178342		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6249	protein-coding gene	gene with protein product		605696				10551266, 16382104	Standard	NM_012283		Approved	Kv6.2, KCNF2	uc010xfl.2	Q9UJ96	OTTHUMG00000044541	ENST00000316249.3:c.1053C>T	18.37:g.77659468C>T						KCNG2_ENST00000590307.1_3'UTR	p.R351R	NM_012283.1	NP_036415.1	Q9UJ96	KCNG2_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;6.92e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0244)	2	1053	+		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)	351						Silent	SNP	ENST00000316249.3	37	c.1053C>T	CCDS12019.1																																																																																				0.721	KCNG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103906.1	NM_012283		8	17	0	0	0	1	0	8	17					T	77659468	C	T	77659468	2	4	127	1	0	0	0	0	0	0	0	1	8028	755	27	1		1	KCNG2	18	77659468	Silent	SNP	C	TCGA-EJ-A7NF-01A-11D-A33T-08		77659468	417780	25	6647											
USE1	55850	broad.mit.edu	37	chr19	17330466	17330466	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcacactcactgaaaatggcGgaccagaacctggagaaact	15	6	9	11	1	2	3	2	1	0	2	2	5	2	4	2	3	2	0	2	3	4	0	rs146606083	byFrequency	TCGA-EJ-A7NF-01A-11D-A33T-08	TCGA-EJ-A7NF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1f24ca-9ea6-45b4-aae1-2174a9670065	db974012-6d0c-44c3-ae87-e0f05d96abdc	g.chr19:17330466G>A	ENST00000263897.5	+	8	671	c.624G>A	c.(622-624)gcG>gcA	p.A208A	USE1_ENST00000379776.4_3'UTR|USE1_ENST00000596136.1_3'UTR|USE1_ENST00000445667.2_Silent_p.A208A	NM_018467.3	NP_060937	Q9NZ43	USE1_HUMAN	unconventional SNARE in the ER 1 homolog (S. cerevisiae)	208					endoplasmic reticulum tubular network organization (GO:0071786)|lysosomal transport (GO:0007041)|protein catabolic process (GO:0030163)|protein transport (GO:0015031)|regulation of ER to Golgi vesicle-mediated transport (GO:0060628)|secretion by cell (GO:0032940)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				breast(2)|endometrium(1)|lung(3)	6						TGAAAATGGCGGACCAGAACC	0.562													G|||	3	0.000599042	0.0023	0	5008	,	,		17646	0		0	False		,,,				2504	0					ENST00000445667.2																			0				breast(2)|endometrium(1)|lung(3)	6						c.(622-624)gcG>gcA		unconventional SNARE in the ER 1 homolog (S. cerevisiae)							71	77	75					19																	17330466		2202	4300	6502	SO:0001819	synonymous_variant	55850				lysosomal transport|protein catabolic process|protein transport|secretion by cell|vesicle-mediated transport	endoplasmic reticulum membrane|integral to membrane	protein binding	g.chr19:17330466G>A	AF220052	CCDS46011.1	19p13.11	2007-08-20				ENSG00000053501			30882	protein-coding gene	gene with protein product	"Q-SNARE", "SNARE-like tail-anchored protein 1 homolog (S. cerevisiae)"	610675				16354670, 15029241	Standard	NM_018467		Approved	p31, SLT1, MDS032	uc002nfo.2	Q9NZ43		ENST00000263897.5:c.624G>A	19.37:g.17330466G>A						USE1_ENST00000596136.1_3'UTR|USE1_ENST00000263897.5_Silent_p.A208A|USE1_ENST00000379776.4_3'UTR	p.A208A			Q9NZ43	USE1_HUMAN			8	684	+			208					Q8NCK1|Q9BRT4	Silent	SNP	ENST00000263897.5	37	c.624G>A	CCDS46011.1																																																																																				0.562	USE1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463295.1	NM_018467		10	27	0	0	0	1	0	10	27					A	17330466	G	A	17330466	2	1	127	1	0	0	0	0	0	0	0	1	17028	1103	39	2		2	USE1	19	17330466	Silent	SNP	G	TCGA-EJ-A7NF-01A-11D-A33T-08		17330466	41798517	26	6648											
FCGBP	8857	broad.mit.edu	37	chr19	40368321	40368321	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accacagccaacctgtgcccGccagtcttcgatgacaaccc	10	6	7	18	2	1	1	0	1	1	0	2	2	1	1	6	0	4	0	6	0	2	1	rs146255832	byFrequency	TCGA-EJ-A7NF-01A-11D-A33T-08	TCGA-EJ-A7NF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1f24ca-9ea6-45b4-aae1-2174a9670065	db974012-6d0c-44c3-ae87-e0f05d96abdc	g.chr19:40368321G>A	ENST00000221347.6	-	28	13034	c.13027C>T	c.(13027-13029)Cgg>Tgg	p.R4343W		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	4343						extracellular vesicular exosome (GO:0070062)				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			ACCTGTGCCCGCCAGTCTTCG	0.647																																						ENST00000221347.6																			0				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165						c.(13027-13029)Cgg>Tgg		Fc fragment of IgG binding protein		G	TRP/ARG	0,4406		0,0,2203	115	123	120		13027	1.9	0.9	19	dbSNP_134	120	14,8586	7.1+/-27.0	0,14,4286	no	missense	FCGBP	NM_003890.2	101	0,14,6489	AA,AG,GG		0.1628,0.0,0.1076	probably-damaging	4343/5406	40368321	14,12992	2203	4300	6503	SO:0001583	missense	8857					extracellular region	protein binding	g.chr19:40368321G>A	D84239		19q13.2	2013-09-20			ENSG00000090920	ENSG00000275395			13572	protein-coding gene	gene with protein product	"IgG Fc binding protein", "Human Fc gamma BP"					9182547	Standard	NM_003890		Approved	FC(GAMMA)BP	uc002omp.4	Q9Y6R7	OTTHUMG00000182580	ENST00000221347.6:c.13027C>T	19.37:g.40368321G>A	ENSP00000221347:p.Arg4343Trp						p.R4343W	NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)		28	13034	-	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		4343					O95784	Missense_Mutation	SNP	ENST00000221347.6	37	c.13027C>T	CCDS12546.1	.	.	.	.	.	.	.	.	.	.	G	12.32	1.903927	0.33628	0.0	0.001628	ENSG00000090920	ENST00000221347	D	0.87103	-2.21	4.08	1.86	0.25419	Uncharacterised domain, cysteine-rich (2);	0.000000	0.85682	U	0.000000	D	0.95417	0.8512	H	0.98594	4.275	0.33963	D	0.645839	D	0.89917	1.0	D	0.97110	1.0	D	0.95743	0.8785	10	0.87932	D	0	.	10.2288	0.43243	0.0:0.0:0.3595:0.6405	.	4343	Q9Y6R7	FCGBP_HUMAN	W	4343	ENSP00000221347:R4343W	ENSP00000221347:R4343W	R	-	1	2	FCGBP	45060161	1.000000	0.71417	0.916000	0.36221	0.323000	0.28346	2.106000	0.41835	0.240000	0.21263	0.305000	0.20034	CGG		0.647	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462507.1	NM_003890		4	113	0	0	0	1	0	4	113					A	40368321	G	A	40368321	3	1	127	1	0	0	0	0	1	0	0	0	5778	1086	38	1	3226	1	FCGBP	19	40368321	Missense_Mutation	SNP	G	TCGA-EJ-A7NF-01A-11D-A33T-08	23037855	40368321	18760662	27	6649											
ERGIC3	51614	broad.mit.edu	37	chr20	34143849	34143849	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acctgtcatttggggaggacTatccaggcattgtgaacccc	9	10	11	11	0	1	1	1	1	0	0	2	3	2	3	4	4	1	1	4	4	2	3			TCGA-EJ-A7NF-01A-11D-A33T-08	TCGA-EJ-A7NF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1f24ca-9ea6-45b4-aae1-2174a9670065	db974012-6d0c-44c3-ae87-e0f05d96abdc	g.chr20:34143849T>A	ENST00000348547.2	+	9	840	c.763T>A	c.(763-765)Tat>Aat	p.Y255N	ERGIC3_ENST00000447986.1_Missense_Mutation_p.Y270N|ERGIC3_ENST00000482338.1_3'UTR|ERGIC3_ENST00000357394.4_Missense_Mutation_p.Y260N|ERGIC3_ENST00000279052.6_Missense_Mutation_p.Y260N	NM_015966.2	NP_057050.1	Q9Y282	ERGI3_HUMAN	ERGIC and golgi 3	255					vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)	16	Lung NSC(9;0.00489)|all_lung(11;0.00729)		BRCA - Breast invasive adenocarcinoma(18;0.0127)			TGGGGAGGACTATCCAGGCAT	0.587																																						ENST00000348547.2																			0				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)	16						c.(763-765)Tat>Aat		ERGIC and golgi 3							196	184	188					20																	34143849		2203	4300	6503	SO:0001583	missense	51614				vesicle-mediated transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi apparatus|integral to membrane	protein binding	g.chr20:34143849T>A	AF077030	CCDS13257.1, CCDS13258.1	20q11.22	2013-09-19	2006-01-19	2006-01-19	ENSG00000125991	ENSG00000125991			15927	protein-coding gene	gene with protein product			"serologically defined breast cancer antigen 84", "chromosome 20 open reading frame 47"	SDBCAG84, C20orf47		10810093	Standard	NM_015966		Approved	CGI-54, PRO0989, NY-BR-84, Erv46	uc002xcs.3	Q9Y282	OTTHUMG00000032346	ENST00000348547.2:c.763T>A	20.37:g.34143849T>A	ENSP00000341358:p.Tyr255Asn					ERGIC3_ENST00000482338.1_3'UTR|ERGIC3_ENST00000279052.6_Missense_Mutation_p.Y260N|ERGIC3_ENST00000447986.1_Missense_Mutation_p.Y270N|ERGIC3_ENST00000357394.4_Missense_Mutation_p.Y260N	p.Y255N	NM_015966.2	NP_057050.1	Q9Y282	ERGI3_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.0127)		9	840	+	Lung NSC(9;0.00489)|all_lung(11;0.00729)		255					Q5JWS3|Q6ZWP7|Q9H276|Q9P1L3	Missense_Mutation	SNP	ENST00000348547.2	37	c.763T>A	CCDS13257.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	26.0|26.0	4.695967|4.695967	0.88830|0.88830	.|.	.|.	ENSG00000125991|ENSG00000125991	ENST00000413587|ENST00000348547;ENST00000357394;ENST00000447986;ENST00000279052;ENST00000355563	.|T;T;T;T	.|0.48201	.|0.83;0.82;0.84;0.82	5.52|5.52	5.52|5.52	0.82312|0.82312	.|Domain of unknown function DUF1692 (1);	.|0.113907	.|0.64402	.|D	.|0.000008	T|T	0.68091|0.68091	0.2963|0.2963	M|M	0.76727|0.76727	2.345|2.345	0.80722|0.80722	D|D	1|1	.|P;D;D;D	.|0.76494	.|0.662;0.999;0.999;0.973	.|P;D;D;P	.|0.77004	.|0.643;0.989;0.983;0.894	T|T	0.70916|0.70916	-0.4742|-0.4742	5|10	.|0.54805	.|T	.|0.06	-35.1468|-35.1468	14.6397|14.6397	0.68714|0.68714	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|255;270;255;260	.|B4DV36;E9PFA8;Q9Y282;Q9Y282-3	.|.;.;ERGI3_HUMAN;.	Q|N	256|255;260;270;260;118	.|ENSP00000341358:Y255N;ENSP00000349970:Y260N;ENSP00000392341:Y270N;ENSP00000279052:Y260N	.|ENSP00000279052:Y260N	L|Y	+|+	2|1	0|0	ERGIC3|ERGIC3	33607263|33607263	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.990000|0.990000	0.78478|0.78478	7.881000|7.881000	0.87252|0.87252	2.091000|2.091000	0.63221|0.63221	0.460000|0.460000	0.39030|0.39030	CTA|TAT		0.587	ERGIC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078880.2	NM_015966		43	98	0	0	0	1	0	43	98					A	34143849	T	A	34143849	3	1	127	1	0	0	0	0	1	0	0	0	5225	1522	53	5	816	5	ERGIC3	20	34143849	Missense_Mutation	SNP	T	TCGA-EJ-A7NF-01A-11D-A33T-08		34143849	28881671	28	6650											
KCNJ6	3763	broad.mit.edu	37	chr21	39086716	39086716	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aacgggatgaactccccctcCgaggtctgtttggatttgat	8	12	11	10	2	1	2	0	2	1	0	3	5	3	4	3	3	2	1	3	3	2	2	rs370165848		TCGA-EJ-A7NF-01A-11D-A33T-08	TCGA-EJ-A7NF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1f24ca-9ea6-45b4-aae1-2174a9670065	db974012-6d0c-44c3-ae87-e0f05d96abdc	g.chr21:39086716C>T	ENST00000609713.1	-	3	1333	c.744G>A	c.(742-744)tcG>tcA	p.S248S	KCNJ6-IT1_ENST00000435001.1_RNA|KCNJ6_ENST00000288309.6_Silent_p.S248S	NM_002240.3	NP_002231.1	P48051	KCNJ6_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 6	248					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	G-protein activated inward rectifier potassium channel activity (GO:0015467)|inward rectifier potassium channel activity (GO:0005242)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	22					Halothane(DB01159)	ACTCCCCCTCCGAGGTCTGTT	0.517																																					Pancreas(48;379 1118 2936 19024 28214)	ENST00000400482.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	22						c.(742-744)tcG>tcA		potassium inwardly-rectifying channel, subfamily J, member 6	Halothane(DB01159)	C		0,3820		0,0,1910	97	98	98		744	-12.3	0	21		98	1,8279		0,1,4139	no	coding-synonymous	KCNJ6	NM_002240.2		0,1,6049	TT,TC,CC		0.0121,0.0,0.0083		248/424	39086716	1,12099	1910	4140	6050	SO:0001819	synonymous_variant	3763				synaptic transmission	Golgi apparatus|voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding	g.chr21:39086716C>T	U24660	CCDS42927.1	21q22.1	2011-07-05			ENSG00000157542	ENSG00000157542		"Potassium channels", "Voltage-gated ion channels / Potassium channels, Inwardly rectifying"	6267	protein-coding gene	gene with protein product		600877		KCNJ7		7796919, 16382105	Standard	NM_002240		Approved	Kir3.2, GIRK2, KATP2, BIR1, hiGIRK2	uc002ywo.3	P48051	OTTHUMG00000086667	ENST00000609713.1:c.744G>A	21.37:g.39086716C>T						KCNJ6_ENST00000288309.6_Silent_p.S248S	p.S248S	NM_002240.3	NP_002231.1	P48051	IRK6_HUMAN			3	1333	-			248					Q3MJ74|Q53WW6	Silent	SNP	ENST00000609713.1	37	c.744G>A	CCDS42927.1																																																																																				0.517	KCNJ6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194828.2	NM_002240		3	61	0	0	0	1	0	3	61					T	39086716	C	T	39086716	2	4	127	1	0	0	0	0	0	0	0	1	8055	639	23	2		2	KCNJ6	21	39086716	Silent	SNP	C	TCGA-EJ-A7NF-01A-11D-A33T-08		39086716	9043179	29	6651											
IL1RAPL1	11141	broad.mit.edu	37	chrX	29301248	29301248	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagagccaatagcctttgaCggaagtagaatgagcaaaga	17	6	12	6	1	0	5	0	2	0	3	0	7	0	6	2	1	3	2	2	1	7	3			TCGA-EJ-A7NF-01A-11D-A33T-08	TCGA-EJ-A7NF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1f24ca-9ea6-45b4-aae1-2174a9670065	db974012-6d0c-44c3-ae87-e0f05d96abdc	g.chrX:29301248C>T	ENST00000378993.1	+	3	949	c.276C>T	c.(274-276)gaC>gaT	p.D92D	IL1RAPL1_ENST00000302196.4_Silent_p.D92D	NM_014271.3	NP_055086.1	Q9NZN1	IRPL1_HUMAN	interleukin 1 receptor accessory protein-like 1	92	Ig-like C2-type 1.				calcium ion transmembrane transport (GO:0070588)|heterophilic cell-cell adhesion (GO:0007157)|negative regulation of exocytosis (GO:0045920)|neuron differentiation (GO:0030182)|positive regulation of dendrite morphogenesis (GO:0050775)|presynaptic membrane assembly (GO:0097105)|regulation of neuron projection development (GO:0010975)|signal transduction (GO:0007165)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	receptor binding (GO:0005102)|voltage-gated calcium channel activity (GO:0005245)			biliary_tract(1)|breast(1)|endometrium(5)|large_intestine(9)|lung(38)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62						TAGCCTTTGACGGAAGTAGAA	0.448													T|||	1	0.000264901	0	0	3775	,	,		13499	0		0	False		,,,				2504	0.001					ENST00000378993.1																			0				biliary_tract(1)|breast(1)|endometrium(5)|large_intestine(9)|lung(38)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62						c.(274-276)gaC>gaT		interleukin 1 receptor accessory protein-like 1							121	103	109					X																	29301248		2202	4300	6502	SO:0001819	synonymous_variant	11141				innate immune response|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of exocytosis|regulation of neuron projection development	cytoplasm|integral to membrane|plasma membrane	protein binding|transmembrane receptor activity	g.chrX:29301248C>T	AJ243874	CCDS14218.1	Xp22.1-p21.3	2013-01-29	2004-02-13		ENSG00000169306	ENSG00000169306		"Interleukins and interleukin receptors", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5996	protein-coding gene	gene with protein product		300206	"mental retardation, X-linked 34", "mental retardation, X-linked 21", "mental retardation, X-linked 10"	IL1RAPL, MRX34, MRX21, MRX10		10471494, 10757639	Standard	NM_014271		Approved	OPHN4, TIGIRR-2, IL1R8	uc004dby.2	Q9NZN1	OTTHUMG00000021317	ENST00000378993.1:c.276C>T	X.37:g.29301248C>T						IL1RAPL1_ENST00000302196.4_Silent_p.D92D	p.D92D	NM_014271.3	NP_055086.1	Q9NZN1	IRPL1_HUMAN			3	949	+			92			Ig-like C2-type 1.		A0AVG4|Q9UJ53	Silent	SNP	ENST00000378993.1	37	c.276C>T	CCDS14218.1																																																																																				0.448	IL1RAPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056155.1	NM_014271		34	13	0	0	0	1	0	34	13					T	29301248	C	T	29301248	2	4	127	1	0	0	0	0	0	0	0	1	7661	535	19	1		1	IL1RAPL1	23	29301248	Silent	SNP	C	TCGA-EJ-A7NF-01A-11D-A33T-08		29301248	125969312	30	6652											
FOXJ3	22887	broad.mit.edu	37	chr1	42657164	42657164	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggatgctgcggtaaaccatgCggtcgatggggaggatgtgg	8	8	19	6	3	0	0	0	0	0	0	1	4	0	3	1	7	4	2	1	7	2	1	rs372943909		TCGA-EJ-A7NG-01A-31D-A33T-08	TCGA-EJ-A7NG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ccb9a1a-8f45-44c1-9650-b90ebf475a2c	f7be9369-def7-4cc9-8caa-9d546dc7c0df	g.chr1:42657164C>T	ENST00000372572.1	-	11	1472	c.1161G>A	c.(1159-1161)ccG>ccA	p.P387P	FOXJ3_ENST00000361776.1_Silent_p.P353P|FOXJ3_ENST00000545068.1_Silent_p.P387P|FOXJ3_ENST00000372573.1_Silent_p.P387P|FOXJ3_ENST00000361346.1_Silent_p.P387P|FOXJ3_ENST00000372571.1_5'Flank	NM_001198851.1	NP_001185780.1	Q9UPW0	FOXJ3_HUMAN	forkhead box J3	387					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	18	Ovarian(52;0.01)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				GTAAACCATGCGGTCGATGGG	0.612																																						ENST00000372572.1																			0				NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	18						c.(1159-1161)ccG>ccA		forkhead box J3							413	325	355					1																	42657164		2203	4300	6503	SO:0001819	synonymous_variant	22887				embryo development|organ development|pattern specification process|positive regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chr1:42657164C>T	AB028964	CCDS30689.1, CCDS55594.1	1p34.2	2008-04-10			ENSG00000198815	ENSG00000198815		"Forkhead boxes"	29178	protein-coding gene	gene with protein product							Standard	NM_014947		Approved	KIAA1041	uc001chf.3	Q9UPW0	OTTHUMG00000007026	ENST00000372572.1:c.1161G>A	1.37:g.42657164C>T						FOXJ3_ENST00000372573.1_Silent_p.P387P|FOXJ3_ENST00000361776.1_Silent_p.P353P|FOXJ3_ENST00000361346.1_Silent_p.P387P|FOXJ3_ENST00000545068.1_Silent_p.P387P	p.P387P	NM_001198851.1	NP_001185780.1	Q9UPW0	FOXJ3_HUMAN			11	1472	-	Ovarian(52;0.01)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)	387					A7MBL7|A7MD18|D3DPW2|Q9NSS7	Silent	SNP	ENST00000372572.1	37	c.1161G>A	CCDS30689.1																																																																																				0.612	FOXJ3-002	NOVEL	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000018310.1	NM_014947		4	140	0	0	0	1	0	4	140					T	42657164	C	T	42657164	2	4	128	1	0	0	0	0	0	0	0	1	6013	755	27	1		1	FOXJ3	1	42657164	Silent	SNP	C	TCGA-EJ-A7NG-01A-31D-A33T-08		42657164	206593457	1	6653											
ADD2	119	broad.mit.edu	37	chr2	70890788	70890788	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtctgctcctcctccctcccGttgaccaccaccccttccgg	3	10	6	22	2	1	1	0	1	1	0	6	1	6	1	9	1	1	2	9	1	0	2			TCGA-EJ-A7NG-01A-31D-A33T-08	TCGA-EJ-A7NG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ccb9a1a-8f45-44c1-9650-b90ebf475a2c	f7be9369-def7-4cc9-8caa-9d546dc7c0df	g.chr2:70890788G>A	ENST00000264436.4	-	16	2394	c.1950C>T	c.(1948-1950)aaC>aaT	p.N650N	ADD2_ENST00000355733.3_3'UTR|ADD2_ENST00000407644.2_Silent_p.N650N	NM_001617.3	NP_001608.1	P35612	ADDB_HUMAN	adducin 2 (beta)	650					actin cytoskeleton organization (GO:0030036)|actin filament bundle assembly (GO:0051017)|barbed-end actin filament capping (GO:0051016)|hemopoiesis (GO:0030097)|positive regulation of protein binding (GO:0032092)|protein complex assembly (GO:0006461)	cytoplasmic membrane-bounded vesicle (GO:0016023)|F-actin capping protein complex (GO:0008290)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|spectrin binding (GO:0030507)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(11)|lung(13)|ovary(3)|pancreas(1)|skin(2)	36						CCTCCCTCCCGTTGACCACCA	0.517																																						ENST00000264436.3																			0				autonomic_ganglia(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(11)|lung(13)|ovary(3)|pancreas(1)|skin(2)	36						c.(1948-1950)aaC>aaT		adducin 2 (beta)							126	108	114					2																	70890788		2203	4300	6503	SO:0001819	synonymous_variant	119				actin filament bundle assembly|barbed-end actin filament capping|positive regulation of protein binding	cytoplasm|F-actin capping protein complex|plasma membrane	actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding	g.chr2:70890788G>A	X58199	CCDS1906.1, CCDS1909.1, CCDS46318.1, CCDS54365.1	2p13.3	2008-02-05			ENSG00000075340	ENSG00000075340			244	protein-coding gene	gene with protein product		102681				1840603	Standard	NM_001617		Approved	ADDB	uc021vjc.1	P35612	OTTHUMG00000129710	ENST00000264436.4:c.1950C>T	2.37:g.70890788G>A						ADD2_ENST00000407644.2_Silent_p.N650N|ADD2_ENST00000355733.3_3'UTR	p.N650N	NM_001617.3	NP_001608.1	P35612	ADDB_HUMAN			16	2394	-			650					A8K4P2|B4DM17|D6W5G7|D6W5G8|Q13482|Q16412|Q59G82|Q5U5P4|Q6P0P2|Q6PGQ4|Q7Z688|Q7Z689|Q7Z690|Q7Z691	Silent	SNP	ENST00000264436.4	37	c.1950C>T	CCDS1906.1																																																																																				0.517	ADD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251918.4	NM_001617		7	91	0	0	0	1	0	7	91					A	70890788	G	A	70890788	2	1	128	1	0	0	0	0	0	0	0	1	305	1136	40	1		1	ADD2	2	70890788	Silent	SNP	G	TCGA-EJ-A7NG-01A-31D-A33T-08		70890788	172308585	2	6654											
GBX2	2637	broad.mit.edu	37	chr2	237076427	237076429	+	In_Frame_Del	DEL	GGC	GGC	-																															gcgcggcctggggcagcgcgGgcggcggcggcggcggcggc																								rs557135639|rs559648034	byFrequency	TCGA-EJ-A7NG-01A-31D-A33T-08	TCGA-EJ-A7NG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ccb9a1a-8f45-44c1-9650-b90ebf475a2c	f7be9369-def7-4cc9-8caa-9d546dc7c0df	g.chr2:237076427_237076429delGGC	ENST00000306318.4	-	1	583_585	c.186_188delGCC	c.(184-189)ccgccc>ccc	p.62_63PP>P	AC079135.1_ENST00000483218.1_RNA|AC079135.1_ENST00000415226.1_RNA|GBX2_ENST00000551105.1_In_Frame_Del_p.62_63PP>P|GBX2_ENST00000465889.1_5'Flank	NM_001485.2	NP_001476.2	P52951	GBX2_HUMAN	gastrulation brain homeobox 2	62	Poly-Pro.				autonomic nervous system development (GO:0048483)|axon guidance (GO:0007411)|cerebellar granule cell precursor proliferation (GO:0021930)|cerebellum development (GO:0021549)|forebrain neuron development (GO:0021884)|inner ear morphogenesis (GO:0042472)|midbrain-hindbrain boundary morphogenesis (GO:0021555)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|patterning of blood vessels (GO:0001569)|rhombomere 2 development (GO:0021568)|thalamus development (GO:0021794)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	7		Breast(86;0.00235)|Renal(207;0.00339)|all_hematologic(139;0.00357)|all_lung(227;0.0616)|Acute lymphoblastic leukemia(138;0.0775)|Ovarian(221;0.089)|Lung NSC(271;0.179)		Epithelial(121;4.5e-25)|OV - Ovarian serous cystadenocarcinoma(60;5.16e-11)|BRCA - Breast invasive adenocarcinoma(100;3.4e-05)|Lung(119;0.00195)|LUSC - Lung squamous cell carcinoma(224;0.00471)		GGGCAGCGCGggcggcggcggcg	0.754																																						ENST00000306318.4																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	7						c.(184-189)ccc>cc		gastrulation brain homeobox 2																																				SO:0001651	inframe_deletion	2637					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:237076427_237076429delGGC	AF118452	CCDS2515.1	2q37.2	2012-03-09	2005-12-22		ENSG00000168505	ENSG00000168505		"Homeoboxes / ANTP class : HOXL subclass"	4186	protein-coding gene	gene with protein product		601135	"gastrulation brain homeo box 2"			9346236, 8838315	Standard	XM_005246071		Approved		uc002vvw.1	P52951	OTTHUMG00000133294	ENST00000306318.4:c.186_188delGCC	2.37:g.237076436_237076438delGGC	ENSP00000302251:p.Pro63del					GBX2_ENST00000551105.1_In_Frame_Del_p.PP62del|AC079135.1_ENST00000483218.1_RNA|AC079135.1_ENST00000415226.1_RNA	p.PP62del	NM_001485.2	NP_001476.2	P52951	GBX2_HUMAN		Epithelial(121;4.5e-25)|OV - Ovarian serous cystadenocarcinoma(60;5.16e-11)|BRCA - Breast invasive adenocarcinoma(100;3.4e-05)|Lung(119;0.00195)|LUSC - Lung squamous cell carcinoma(224;0.00471)	1	583_585	-		Breast(86;0.00235)|Renal(207;0.00339)|all_hematologic(139;0.00357)|all_lung(227;0.0616)|Acute lymphoblastic leukemia(138;0.0775)|Ovarian(221;0.089)|Lung NSC(271;0.179)	62			Poly-Pro.		B2RPH7|O43833|Q53RX5|Q9Y5Y1	In_Frame_Del	DEL	ENST00000306318.4	37	c.186_188delGCC	CCDS2515.1																																																																																				0.754	GBX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257078.3	NM_001485		3	5						3	5	---	---	---	---	-	237076429	GGC	-	237076427	7	5	128	1	0	1	0	1	0	0	0	0	6281	1232	43	0	866	0	GBX2	2	237076427	In_Frame_Del	DEL	GGC	TCGA-EJ-A7NG-01A-31D-A33T-08	166185639	237076427	6122946	3	6655											
ULK4	54986	broad.mit.edu	37	chr3	41746766	41746766	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctatggctccatctatgttcGtttctcctgagtctacagat	7	16	7	11	1	3	2	0	1	3	1	6	2	4	2	2	1	1	3	2	1	3	5	rs565139607	byFrequency	TCGA-EJ-A7NG-01A-31D-A33T-08	TCGA-EJ-A7NG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ccb9a1a-8f45-44c1-9650-b90ebf475a2c	f7be9369-def7-4cc9-8caa-9d546dc7c0df	g.chr3:41746766G>C	ENST00000301831.4	-	26	3128	c.2666C>G	c.(2665-2667)aCg>aGg	p.T889R		NM_017886.2	NP_060356.2	Q96C45	ULK4_HUMAN	unc-51 like kinase 4	889					cilium morphogenesis (GO:0060271)|epithelial cilium movement (GO:0003351)|microtubule cytoskeleton organization (GO:0000226)|regulation of JNK cascade (GO:0046328)|regulation of MAPK cascade (GO:0043408)|regulation of neuron migration (GO:2001222)|regulation of neuron projection development (GO:0010975)|regulation of p38MAPK cascade (GO:1900744)|regulation of protein kinase C signaling (GO:0090036)|ventricular system development (GO:0021591)		ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|cervix(1)|large_intestine(6)|lung(7)|prostate(5)|skin(1)	22				KIRC - Kidney renal clear cell carcinoma(284;0.214)		ATCTATGTTCGTTTCTCCTGA	0.294																																						ENST00000301831.4																			0				breast(2)|cervix(1)|large_intestine(6)|lung(7)|prostate(5)|skin(1)	22						c.(2665-2667)aCg>aGg		unc-51 like kinase 4							83	76	78					3																	41746766		1802	4068	5870	SO:0001583	missense	54986						ATP binding|protein serine/threonine kinase activity	g.chr3:41746766G>C	AK000581	CCDS43071.1	3p22.1	2013-07-02	2013-07-02		ENSG00000168038	ENSG00000168038			15784	protein-coding gene	gene with protein product			"unc-51-like kinase 4 (C. elegans)"			12477932	Standard	NM_017886		Approved	FLJ20574, REC01035, FAM7C1	uc003ckv.4	Q96C45	OTTHUMG00000156210	ENST00000301831.4:c.2666C>G	3.37:g.41746766G>C	ENSP00000301831:p.Thr889Arg						p.T889R	NM_017886.2	NP_060356.2	Q96C45	ULK4_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.214)	26	3128	-			889					A6NF15|Q8IW79|Q9NWV6|Q9UF96	Missense_Mutation	SNP	ENST00000301831.4	37	c.2666C>G	CCDS43071.1	.	.	.	.	.	.	.	.	.	.	G	17.75	3.465841	0.63513	.	.	ENSG00000168038	ENST00000301831	T	0.64803	-0.12	5.01	4.11	0.48088	Armadillo-type fold (1);	0.278443	0.26463	U	0.024225	T	0.70185	0.3195	L	0.50333	1.59	0.80722	D	1	D	0.64830	0.994	P	0.57324	0.818	T	0.74334	-0.3699	10	0.87932	D	0	.	15.5036	0.75719	0.0:0.1391:0.8609:0.0	.	889	Q96C45	ULK4_HUMAN	R	889	ENSP00000301831:T889R	ENSP00000301831:T889R	T	-	2	0	ULK4	41721770	1.000000	0.71417	0.992000	0.48379	0.976000	0.68499	4.869000	0.63028	1.191000	0.43056	0.591000	0.81541	ACG		0.294	ULK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343490.1	XM_929989		9	65	0	0	0	1	0	9	65					C	41746766	G	C	41746766	3	2	128	1	0	0	0	0	1	0	0	0	16975	1145	40	5	1209	5	ULK4	3	41746766	Missense_Mutation	SNP	G	TCGA-EJ-A7NG-01A-31D-A33T-08		41746766	156275664	4	6656											
WHSC1	7468	broad.mit.edu	37	chr4	1902918	1902918	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ataaaatatgactccttgctGgagcagggccttgtcgaagc	11	10	11	9	1	0	1	0	1	0	0	2	3	1	2	2	2	3	2	2	2	4	4			TCGA-EJ-A7NG-01A-31D-A33T-08	TCGA-EJ-A7NG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ccb9a1a-8f45-44c1-9650-b90ebf475a2c	f7be9369-def7-4cc9-8caa-9d546dc7c0df	g.chr4:1902918G>A	ENST00000382895.3	+	4	968	c.537G>A	c.(535-537)ctG>ctA	p.L179L	WHSC1_ENST00000382891.5_Silent_p.L179L|WHSC1_ENST00000514045.1_Silent_p.L179L|WHSC1_ENST00000382892.2_Silent_p.L179L|WHSC1_ENST00000436793.1_Silent_p.L179L|WHSC1_ENST00000398261.1_Silent_p.L179L|WHSC1_ENST00000503128.1_Silent_p.L179L|WHSC1_ENST00000508803.1_Silent_p.L179L|WHSC1_ENST00000420906.2_Silent_p.L179L	NM_133330.2	NP_579877.1	O96028	NSD2_HUMAN	Wolf-Hirschhorn syndrome candidate 1	179					anatomical structure morphogenesis (GO:0009653)|atrial septum primum morphogenesis (GO:0003289)|atrial septum secundum morphogenesis (GO:0003290)|bone development (GO:0060348)|membranous septum morphogenesis (GO:0003149)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	48		all_epithelial(65;1.34e-05)	OV - Ovarian serous cystadenocarcinoma(23;0.00606)	STAD - Stomach adenocarcinoma(129;0.232)		ACTCCTTGCTGGAGCAGGGCC	0.448			T	IGH@	MM																																	ENST00000503128.1				Dom	yes		4	4p16.3	7468	T	Wolf-Hirschhorn syndrome candidate 1(MMSET)			L	IGH@		MM		0				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	48						c.(535-537)ctG>ctA		Wolf-Hirschhorn syndrome candidate 1							72	64	67					4																	1902918		2203	4300	6503	SO:0001819	synonymous_variant	7468				anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|cytoplasm|nuclear membrane|nucleolus	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding	g.chr4:1902918G>A	AF083386	CCDS3356.1, CCDS33940.1, CCDS46999.1	4p16.3	2013-05-20			ENSG00000109685	ENSG00000109685		"Zinc fingers, PHD-type"	12766	protein-coding gene	gene with protein product		602952				9618163, 9787135	Standard	NM_133334		Approved	MMSET, NSD2	uc003gdz.4	O96028	OTTHUMG00000121147	ENST00000382895.3:c.537G>A	4.37:g.1902918G>A						WHSC1_ENST00000382895.3_Silent_p.L179L|WHSC1_ENST00000382892.2_Silent_p.L179L|WHSC1_ENST00000436793.1_Silent_p.L179L|WHSC1_ENST00000398261.1_Silent_p.L179L|WHSC1_ENST00000508803.1_Silent_p.L179L|WHSC1_ENST00000514045.1_Silent_p.L179L|WHSC1_ENST00000420906.2_Silent_p.L179L|WHSC1_ENST00000382891.5_Silent_p.L179L	p.L179L			O96028	NSD2_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.00606)	STAD - Stomach adenocarcinoma(129;0.232)	2	744	+		all_epithelial(65;1.34e-05)	179					A2A2T2|A2A2T3|A2A2T4|A7MCZ1|D3DVQ2|O96031|Q4VBY8|Q672J1|Q6IS00|Q86V01|Q9BZB4|Q9UI92|Q9UPR2	Silent	SNP	ENST00000382895.3	37	c.537G>A	CCDS33940.1																																																																																				0.448	WHSC1-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366269.2	NM_133330		4	65	0	0	0	1	0	4	65					A	1902918	G	A	1902918	2	1	128	1	0	0	0	0	0	0	0	1	17359	1335	47	3		3	WHSC1	4	1902918	Silent	SNP	G	TCGA-EJ-A7NG-01A-31D-A33T-08		1902918	189251358	5	6657											
BHLHE22	27319	broad.mit.edu	37	chr8	65494017	65494018	+	In_Frame_Ins	INS	-	-	GCA																															cggtagcggtagcggcagcgINSgcggcagcagcagcagcagc																										TCGA-EJ-A7NG-01A-31D-A33T-08	TCGA-EJ-A7NG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ccb9a1a-8f45-44c1-9650-b90ebf475a2c	f7be9369-def7-4cc9-8caa-9d546dc7c0df	g.chr8:65494017_65494018insGCA	ENST00000321870.1	+	1	1204_1205	c.670_671insGCA	c.(670-672)ggc>gGCAgc	p.224_225insS	RP11-21C4.1_ENST00000517909.1_RNA	NM_152414.4	NP_689627.1	Q8NFJ8	BHE22_HUMAN	basic helix-loop-helix family, member e22	224	Gly-rich.|Ser-rich.				anterior commissure morphogenesis (GO:0021960)|cerebral cortex regionalization (GO:0021796)|corpus callosum morphogenesis (GO:0021540)|corticospinal tract morphogenesis (GO:0021957)|negative regulation of transcription, DNA-templated (GO:0045892)|retinal bipolar neuron differentiation (GO:0060040)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			NS(1)|central_nervous_system(1)|lung(1)|prostate(1)|skin(1)	5						tagcggcagcggcggcagcagc	0.723																																					Colon(113;104 1586 2865 9855 18065)	ENST00000321870.1																			0				NS(1)|central_nervous_system(1)|lung(1)|prostate(1)|skin(1)	5						c.(670-672)cgg>GCAcgg		basic helix-loop-helix family, member e22				53,2131		7,39,1046						1.7	0.5		dbSNP_126	4	233,4535		21,191,2172	no	coding	BHLHE22	NM_152414.4		28,230,3218	A1A1,A1R,RR		4.8867,2.4267,4.1139				286,6666				SO:0001652	inframe_insertion	27319				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chr8:65494017_65494018insGCA	U80755	CCDS6179.1	8q12.1	2009-01-12	2009-01-12	2009-01-12		ENSG00000180828		"Basic helix-loop-helix proteins"	11963	protein-coding gene	gene with protein product		613483	"trinucleotide repeat containing 20", "basic helix-loop-helix domain containing, class B, 5"	TNRC20, BHLHB5		9225980, 12213201, 18557763	Standard	NM_152414		Approved	CAGL85, Beta3, bHLHe22	uc003xvi.3	Q8NFJ8		Exception_encountered	8.37:g.65494017_65494018insGCA	ENSP00000318799:p.Gly224_Gly225insSer					RP11-21C4.1_ENST00000517909.1_RNA	p.223_224insA	NM_152414.4	NP_689627.1	Q8NFJ8	BHE22_HUMAN			1	1204_1205	+			223			Gly-rich.|Ser-rich.			In_Frame_Ins	INS	ENST00000321870.1	37	c.670_671insGCA	CCDS6179.1																																																																																				0.723	BHLHE22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378549.1	NM_152414		4	6						4	6	---	---	---	---	GCA	65494018	-	GCA	65494017	7	5	128	1	0	1	1	0	0	0	0	0	1421	1116	39	0	672	0	BHLHE22	8	65494017	In_Frame_Ins	INS	-	TCGA-EJ-A7NG-01A-31D-A33T-08		65494017	80870005	6	6658											
CHUK	1147	broad.mit.edu	37	chr10	101960457	101960457	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcaagtctccctgacgtctTccataggggctcttctgtag	7	13	9	12	1	5	1	1	1	4	0	7	1	6	1	2	2	0	2	2	2	3	4			TCGA-EJ-A7NG-01A-31D-A33T-08	TCGA-EJ-A7NG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ccb9a1a-8f45-44c1-9650-b90ebf475a2c	f7be9369-def7-4cc9-8caa-9d546dc7c0df	g.chr10:101960457T>C	ENST00000370397.7	-	15	1736	c.1650A>G	c.(1648-1650)ggA>ggG	p.G550G		NM_001278.3	NP_001269.3	O15111	IKKA_HUMAN	conserved helix-loop-helix ubiquitous kinase	550					anatomical structure morphogenesis (GO:0009653)|cellular response to tumor necrosis factor (GO:0071356)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|I-kappaB phosphorylation (GO:0007252)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|lactation (GO:0007595)|mammary gland alveolus development (GO:0060749)|mammary gland epithelial cell proliferation (GO:0033598)|morphogenesis of an epithelial sheet (GO:0002011)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|odontogenesis of dentin-containing tooth (GO:0042475)|osteoclast differentiation (GO:0030316)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|protein phosphorylation (GO:0006468)|response to amino acid (GO:0043200)|response to drug (GO:0042493)|response to hydroperoxide (GO:0033194)|response to lipopolysaccharide (GO:0032496)|response to toxic substance (GO:0009636)|response to virus (GO:0009615)|Rho protein signal transduction (GO:0007266)|skeletal muscle contraction (GO:0003009)|striated muscle cell differentiation (GO:0051146)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	CD40 receptor complex (GO:0035631)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|IkappaB kinase complex (GO:0008385)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	ATP binding (GO:0005524)|IkappaB kinase activity (GO:0008384)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|scaffold protein binding (GO:0097110)			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(9)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1)	27		Colorectal(252;0.117)		Epithelial(162;2.05e-10)|all cancers(201;1.91e-08)	Acetylcysteine(DB06151)|Aminosalicylic Acid(DB00233)|Mesalazine(DB00244)|Sulfasalazine(DB00795)	CCTGACGTCTTCCATAGGGGC	0.403																																					Ovarian(159;52 1904 10536 35305 37148)	ENST00000370397.7																			0				breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(9)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1)	27						c.(1648-1650)ggA>ggG		conserved helix-loop-helix ubiquitous kinase							132	126	128					10																	101960457		2203	4300	6503	SO:0001819	synonymous_variant	1147				I-kappaB phosphorylation|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	CD40 receptor complex|cytosol|internal side of plasma membrane|nucleus	ATP binding|identical protein binding|IkappaB kinase activity	g.chr10:101960457T>C	AF009225	CCDS7488.1	10q24-q25	2008-08-01			ENSG00000213341	ENSG00000213341			1974	protein-coding gene	gene with protein product		600664		TCF16		7558004, 16902410	Standard	XR_246062		Approved	IKK1, IKK-alpha, IkBKA, NFKBIKA, IKKA	uc001kqp.3	O15111	OTTHUMG00000018899	ENST00000370397.7:c.1650A>G	10.37:g.101960457T>C							p.G550G	NM_001278.3	NP_001269.3	O15111	IKKA_HUMAN		Epithelial(162;2.05e-10)|all cancers(201;1.91e-08)	15	1736	-		Colorectal(252;0.117)	550					O14666|Q13132|Q5W0I4|Q92467	Silent	SNP	ENST00000370397.7	37	c.1650A>G	CCDS7488.1																																																																																				0.403	CHUK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049836.1	NM_001278		3	61	0	0	0	1	0	3	61					C	101960457	T	C	101960457	2	2	128	1	0	0	0	0	0	0	0	1	3416	1770	62	4		4	CHUK	10	101960457	Silent	SNP	T	TCGA-EJ-A7NG-01A-31D-A33T-08		101960457	33574290	7	6659											
HMX3	340784	broad.mit.edu	37	chr10	124895626	124895627	+	Frame_Shift_Ins	INS	-	-	C																															cacagccccaaccgccgccgINSccccccccacccgctcccaa																										TCGA-EJ-A7NG-01A-31D-A33T-08	TCGA-EJ-A7NG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ccb9a1a-8f45-44c1-9650-b90ebf475a2c	f7be9369-def7-4cc9-8caa-9d546dc7c0df	g.chr10:124895626_124895627insC	ENST00000357878.5	+	1	149_150	c.60_61insC	c.(61-63)cccfs	p.P21fs		NM_001105574.1	NP_001099044.1	A6NHT5	HMX3_HUMAN	H6 family homeobox 3	21	Pro-rich.				brain development (GO:0007420)|cell differentiation (GO:0030154)|embryo implantation (GO:0007566)|inner ear morphogenesis (GO:0042472)|maternal process involved in female pregnancy (GO:0060135)|neuromuscular process controlling balance (GO:0050885)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			lung(4)	4		all_neural(114;0.0765)|Colorectal(57;0.102)|all_lung(145;0.11)|Lung NSC(174;0.163)		Colorectal(40;0.122)|COAD - Colon adenocarcinoma(40;0.141)		AACCGCCGCCGCCCCCCCCACC	0.748																																						ENST00000357878.5																			0				lung(4)	4						c.(58-63)ccccccfs		H6 family homeobox 3																																				SO:0001589	frameshift_variant	340784				cell differentiation	nucleus	sequence-specific DNA binding transcription factor activity	g.chr10:124895626_124895627insC		CCDS41575.1	10q26.13	2011-06-20	2007-07-09		ENSG00000188620	ENSG00000188620		"Homeoboxes / ANTP class : NKL subclass"	5019	protein-coding gene	gene with protein product		613380	"homeo box (H6 family) 3"				Standard	NM_001105574		Approved	NKX5-1	uc010quc.2	A6NHT5	OTTHUMG00000019199	ENST00000357878.5:c.68dupC	10.37:g.124895634_124895634dupC	ENSP00000350549:p.Pro21fs						p.PP20fs	NM_001105574.1	NP_001099044.1	A6NHT5	HMX3_HUMAN		Colorectal(40;0.122)|COAD - Colon adenocarcinoma(40;0.141)	1	149_150	+		all_neural(114;0.0765)|Colorectal(57;0.102)|all_lung(145;0.11)|Lung NSC(174;0.163)	20			Pro-rich.		A8MU06	Frame_Shift_Ins	INS	ENST00000357878.5	37	c.60_61insC	CCDS41575.1																																																																																				0.748	HMX3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050842.4	XM_291716		2	4						2	4	---	---	---	---	C	124895627	-	C	124895626	7	5	128	1	0	1	1	0	0	0	0	0	7248	1074	38	0	62	0	HMX3	10	124895626	Frame_Shift_Ins	INS	-	TCGA-EJ-A7NG-01A-31D-A33T-08	22935169	124895626	10639121	8	6660											
DNAH2	146754	broad.mit.edu	37	chr17	7734509	7734509	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gacccccctgaggcctttggCcagcaccccaatgctgatgt	7	8	10	16	0	0	2	0	2	0	0	0	3	0	2	7	2	2	2	7	2	1	1			TCGA-EJ-A7NG-01A-31D-A33T-08	TCGA-EJ-A7NG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ccb9a1a-8f45-44c1-9650-b90ebf475a2c	f7be9369-def7-4cc9-8caa-9d546dc7c0df	g.chr17:7734509C>T	ENST00000572933.1	+	80	13796	c.12336C>T	c.(12334-12336)ggC>ggT	p.G4112G	DNAH2_ENST00000389173.2_Silent_p.G4112G			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	4112					cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				AGGCCTTTGGCCAGCACCCCA	0.527																																						ENST00000572933.1																			0				NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189						c.(12334-12336)ggC>ggT		dynein, axonemal, heavy chain 2							154	160	158					17																	7734509		2203	4300	6503	SO:0001819	synonymous_variant	146754				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:7734509C>T	U83570, AK128517	CCDS32551.1	17p13.1	2007-10-05	2006-09-04			ENSG00000183914		"Axonemal dyneins"	2948	protein-coding gene	gene with protein product		603333	"dynein, axonemal, heavy polypeptide 2", "dynein heavy chain domain 3"	DNHD3		9256245	Standard	XM_005256470		Approved	KIAA1503, FLJ46675	uc002giu.1	Q9P225		ENST00000572933.1:c.12336C>T	17.37:g.7734509C>T						DNAH2_ENST00000389173.2_Silent_p.G4112G	p.G4112G			Q9P225	DYH2_HUMAN			80	13796	+		all_cancers(10;4.66e-07)|Prostate(122;0.081)	4112					A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	Silent	SNP	ENST00000572933.1	37	c.12336C>T	CCDS32551.1																																																																																				0.527	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440241.1	NM_020877		4	218	0	0	0	1	0	4	218					T	7734509	C	T	7734509	2	4	128	1	0	0	0	0	0	0	0	1	4602	726	26	3		3	DNAH2	17	7734509	Silent	SNP	C	TCGA-EJ-A7NG-01A-31D-A33T-08		7734509	73460701	9	6661											
MYO5B	4645	broad.mit.edu	37	chr18	47421475	47421475	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caccagctccttcttcagccGctctacctccatggtgtatg	6	12	7	16	1	3	0	1	0	2	0	5	0	5	0	5	1	3	3	5	1	2	4	rs556141097	byFrequency	TCGA-EJ-A7NG-01A-31D-A33T-08	TCGA-EJ-A7NG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ccb9a1a-8f45-44c1-9650-b90ebf475a2c	f7be9369-def7-4cc9-8caa-9d546dc7c0df	g.chr18:47421475G>A	ENST00000285039.7	-	22	3180	c.2881C>T	c.(2881-2883)Cgg>Tgg	p.R961W	MYO5B_ENST00000324581.6_Missense_Mutation_p.R102W	NM_001080467.2	NP_001073936.1	Q9ULV0	MYO5B_HUMAN	myosin VB	961					endosome localization (GO:0032439)|metabolic process (GO:0008152)|protein transport (GO:0015031)|transmembrane transport (GO:0055085)|vesicle-mediated transport (GO:0016192)|water transport (GO:0006833)	apical cortex (GO:0045179)|cytoplasmic vesicle membrane (GO:0030659)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|protein complex (GO:0043234)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)|Rab GTPase binding (GO:0017137)			NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		TTCTTCAGCCGCTCTACCTCC	0.557													G|||	3	0.000599042	0	0	5008	,	,		14485	0.003		0	False		,,,				2504	0					ENST00000285039.7																			0				NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87						c.(2881-2883)Cgg>Tgg		myosin VB							73	72	72					18																	47421475		2016	4188	6204	SO:0001583	missense	4645				protein transport	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	g.chr18:47421475G>A	AB032945	CCDS42436.1	18q	2011-09-27			ENSG00000167306	ENSG00000167306		"Myosins / Myosin superfamily : Class V"	7603	protein-coding gene	gene with protein product		606540				8884266, 17462998	Standard	NM_001080467		Approved	KIAA1119	uc002leb.2	Q9ULV0		ENST00000285039.7:c.2881C>T	18.37:g.47421475G>A	ENSP00000285039:p.Arg961Trp					MYO5B_ENST00000324581.6_Missense_Mutation_p.R102W	p.R961W	NM_001080467.2	NP_001073936.1	Q9ULV0	MYO5B_HUMAN		READ - Rectum adenocarcinoma(32;0.103)	22	3180	-			961					B0I1R3|Q0P656|Q9H6Y6	Missense_Mutation	SNP	ENST00000285039.7	37	c.2881C>T	CCDS42436.1	.	.	.	.	.	.	.	.	.	.	G	13.24	2.177397	0.38413	.	.	ENSG00000167306	ENST00000285039;ENST00000324581	T;T	0.20598	2.06;2.06	5.68	3.25	0.37280	.	0.108957	0.64402	D	0.000011	T	0.27205	0.0667	N	0.19112	0.55	0.30593	N	0.761329	P;P	0.50617	0.937;0.716	P;B	0.59424	0.857;0.388	T	0.17561	-1.0365	10	0.87932	D	0	.	13.355	0.60623	0.0:0.0:0.3642:0.6358	.	961;102	Q9ULV0;Q9H6Y6	MYO5B_HUMAN;.	W	961;102	ENSP00000285039:R961W;ENSP00000315531:R102W	ENSP00000285039:R961W	R	-	1	2	MYO5B	45675473	1.000000	0.71417	0.925000	0.36789	0.283000	0.27025	3.361000	0.52306	0.086000	0.17137	-2.067000	0.00394	CGG		0.557	MYO5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448515.2			4	56	0	0	0	1	0	4	56					A	47421475	G	A	47421475	3	1	128	1	0	0	0	0	1	0	0	0	10079	1086	38	1	2741	1	MYO5B	18	47421475	Missense_Mutation	SNP	G	TCGA-EJ-A7NG-01A-31D-A33T-08		47421475	30655773	10	6662											
NUDT11	55190	broad.mit.edu	37	chrX	51239296	51239309	+	Start_Codon_Del	DEL	TCCTCGAGGCAGCC	TCCTCGAGGCAGCC	-																															ctggttgggtttgcacttcaTcctcgaggcagcctcctcga																								rs78182391		TCGA-EJ-A7NG-01A-31D-A33T-08	TCGA-EJ-A7NG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ccb9a1a-8f45-44c1-9650-b90ebf475a2c	f7be9369-def7-4cc9-8caa-9d546dc7c0df	g.chrX:51239296_51239309delTCCTCGAGGCAGCC	ENST00000375992.3	-	0	139_152					NM_018159.3	NP_060629.2	Q96G61	NUD11_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 11						inositol phosphate metabolic process (GO:0043647)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|intracellular (GO:0005622)	diphosphoinositol-polyphosphate diphosphatase activity (GO:0008486)|inositol diphosphate tetrakisphosphate diphosphatase activity (GO:0052840)|inositol-1,5-bisdiphosphate-2,3,4,6-tetrakisphosphate 1-diphosphatase activity (GO:0052846)|inositol-1,5-bisdiphosphate-2,3,4,6-tetrakisphosphate 5-diphosphatase activity (GO:0052847)|inositol-1-diphosphate-2,3,4,5,6-pentakisphosphate diphosphatase activity (GO:0052843)|inositol-3,5-bisdiphosphate-2,3,4,6-tetrakisphosphate 5-diphosphatase activity (GO:0052848)|inositol-3-diphosphate-1,2,4,5,6-pentakisphosphate diphosphatase activity (GO:0052844)|inositol-5-diphosphate-1,2,3,4,6-pentakisphosphate diphosphatase activity (GO:0052845)|metal ion binding (GO:0046872)	p.?(5)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|upper_aerodigestive_tract(2)	9	Ovarian(276;0.236)					TTGCACTTCATCCTCGAGGCAGCCTCCTCGAGGC	0.692										HNSCC(48;0.14)				2406	0.637351	0.497	0.4928	3775	,	,		5662	0.4464		0.4553	False		,,,				2504	0.5102				GBM(38;198 791 1498 11752 13599)	ENST00000375992.3																			5	Unknown(5)	p.?(5)	upper_aerodigestive_tract(2)|prostate(1)|breast(1)|central_nervous_system(1)	breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|upper_aerodigestive_tract(2)	9								nudix (nucleoside diphosphate linked moiety X)-type motif 11				1710,202		758,11,183,87,17						3	1		dbSNP_131	12	3133,173		1220,1,692,66,40	no	frameshift	NUDT11	NM_018159.3		1978,12,875,153,57	A1A1,A1R,A1,RR,R		5.2329,10.5649,7.1867				4843,375				SO:0001582	initiator_codon_variant	0					cytoplasm	diphosphoinositol-polyphosphate diphosphatase activity|metal ion binding	g.chrX:51239296_51239309delTCCTCGAGGCAGCC	AK001490	CCDS43952.1	Xp11.22-p11.1	2014-05-20			ENSG00000196368	ENSG00000196368		"Nudix motif containing"	18011	protein-coding gene	gene with protein product						12105228	Standard	NM_018159		Approved	DIPP3b, FLJ10628, hDIPP3beta	uc010njt.3	Q96G61	OTTHUMG00000021531		X.37:g.51239296_51239309delTCCTCGAGGCAGCC		HNSCC(48;0.14)						NM_018159.3	NP_060629.2	Q96G61	NUD11_HUMAN			0	139_152	-	Ovarian(276;0.236)							Q9NVN0	Translation_Start_Site	DEL	ENST00000375992.3	37		CCDS43952.1																																																																																				0.692	NUDT11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056579.1			3	6						3	6	---	---	---	---	-	51239309	TCCTCGAGGCAGCC	-	51239296	7	5	128	1	0	1	0	1	0	0	0	0	10727	1435	50	0	501	0	NUDT11	23	51239296	Start_Codon_Del	DEL	TCCTCGAGGCAGCC	TCGA-EJ-A7NG-01A-31D-A33T-08		51239296	104031264	11	6663											
SLC35F3	148641	broad.mit.edu	37	chr1	234444947	234444947	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggacactcacaaactacctgTacttacatgcaataaagaaa	18	8	5	10	0	1	1	1	0	0	1	1	2	1	2	1	1	5	2	1	1	8	4			TCGA-EJ-A7NH-01A-12D-A33T-08	TCGA-EJ-A7NH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e69e7f2-9350-438e-b4c0-66d28d1681a3	ad22411c-0db0-4ad6-8c80-4134cc51e7ed	g.chr1:234444947T>G	ENST00000366617.3	+	3	730	c.502T>G	c.(502-504)Tac>Gac	p.Y168D	MIR4671_ENST00000583284.1_RNA|SLC35F3_ENST00000366618.3_Missense_Mutation_p.Y237D			Q8IY50	S35F3_HUMAN	solute carrier family 35, member F3	168					thiamine transport (GO:0015888)	integral component of membrane (GO:0016021)				breast(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|urinary_tract(1)	32	Ovarian(103;0.0454)	all_cancers(173;0.145)|Prostate(94;0.0885)	OV - Ovarian serous cystadenocarcinoma(106;0.00531)			AAACTACCTGTACTTACATGC	0.423																																						ENST00000366618.3																			0				breast(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|urinary_tract(1)	32						c.(709-711)Tac>Gac		solute carrier family 35, member F3							131	121	124					1																	234444947		2203	4300	6503	SO:0001583	missense	148641				transport	integral to membrane		g.chr1:234444947T>G		CCDS1600.1, CCDS73050.1	1q42.3	2013-05-22			ENSG00000183780	ENSG00000183780		"Solute carriers"	23616	protein-coding gene	gene with protein product							Standard	XM_005273070		Approved	FLJ37712	uc001hvy.1	Q8IY50	OTTHUMG00000037929	ENST00000366617.3:c.502T>G	1.37:g.234444947T>G	ENSP00000355576:p.Tyr168Asp					SLC35F3_ENST00000366617.3_Missense_Mutation_p.Y168D	p.Y237D	NM_173508.2	NP_775779.1	Q8IY50	S35F3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00531)		4	854	+	Ovarian(103;0.0454)	all_cancers(173;0.145)|Prostate(94;0.0885)	168					Q5TDD6|Q8N9C9	Missense_Mutation	SNP	ENST00000366617.3	37	c.709T>G		.	.	.	.	.	.	.	.	.	.	T	23.9	4.465642	0.84425	.	.	ENSG00000183780	ENST00000366618;ENST00000366617	T;T	0.34859	1.34;1.34	5.58	5.58	0.84498	Drug/metabolite transporter (1);	0.000000	0.85682	D	0.000000	T	0.62245	0.2412	M	0.79475	2.455	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.997	T	0.66626	-0.5876	10	0.66056	D	0.02	-23.5963	15.7362	0.77846	0.0:0.0:0.0:1.0	.	168;237	Q8IY50;Q8IY50-2	S35F3_HUMAN;.	D	237;168	ENSP00000355577:Y237D;ENSP00000355576:Y168D	ENSP00000355576:Y168D	Y	+	1	0	SLC35F3	232511570	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.977000	0.88081	2.137000	0.66172	0.533000	0.62120	TAC		0.423	SLC35F3-002	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000128322.1	NM_173508		8	118	0	0	0	1	0	8	118					G	234444947	T	G	234444947	3	3	129	1	0	0	0	0	1	0	0	0	14590	1638	57	5	723	5	SLC35F3	1	234444947	Missense_Mutation	SNP	T	TCGA-EJ-A7NH-01A-12D-A33T-08		234444947	14805674	1	6664											
GAD1	2571	broad.mit.edu	37	chr2	171686099	171686099	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaacagcgaccgggatgcccGcttccggcgcacagagactg	10	4	13	14	5	0	1	0	0	0	1	1	4	1	2	3	2	3	2	3	2	1	1	rs201232271		TCGA-EJ-A7NH-01A-12D-A33T-08	TCGA-EJ-A7NH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e69e7f2-9350-438e-b4c0-66d28d1681a3	ad22411c-0db0-4ad6-8c80-4134cc51e7ed	g.chr2:171686099G>A	ENST00000358196.3	+	4	810	c.260G>A	c.(259-261)cGc>cAc	p.R87H	GAD1_ENST00000429023.1_3'UTR|GAD1_ENST00000375272.1_Missense_Mutation_p.R87H|GAD1_ENST00000344257.5_Missense_Mutation_p.R87H	NM_000817.2	NP_000808.2	Q99259	DCE1_HUMAN	glutamate decarboxylase 1 (brain, 67kDa)	87					gamma-aminobutyric acid biosynthetic process (GO:0009449)|glutamate catabolic process (GO:0006538)|glutamate decarboxylation to succinate (GO:0006540)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter secretion (GO:0007269)|protein-pyridoxal-5-phosphate linkage (GO:0018352)|response to drug (GO:0042493)|synaptic transmission (GO:0007268)	clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane (GO:0061202)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|vesicle membrane (GO:0012506)	glutamate binding (GO:0016595)|glutamate decarboxylase activity (GO:0004351)|pyridoxal phosphate binding (GO:0030170)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(15)|ovary(1)|urinary_tract(2)	35						CGGGATGCCCGCTTCCGGCGC	0.537													G|||	1	0.000199681	0	0	5008	,	,		12246	0		0.001	False		,,,				2504	0					ENST00000358196.3																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(15)|ovary(1)|urinary_tract(2)	35						c.(259-261)cGc>cAc		glutamate decarboxylase 1 (brain, 67kDa)	L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)	G	HIS/ARG,HIS/ARG	0,4406		0,0,2203	66	75	72		260,260	4.5	1	2		72	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	GAD1	NM_000817.2,NM_013445.3	29,29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign,benign	87/595,87/225	171686099	1,13005	2203	4300	6503	SO:0001583	missense	2571				glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion|protein-pyridoxal-5-phosphate linkage	clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|plasma membrane	glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding	g.chr2:171686099G>A		CCDS2239.1, CCDS2240.1	2q31	2008-02-05	2002-08-29		ENSG00000128683	ENSG00000128683	4.1.1.15		4092	protein-coding gene	gene with protein product		605363	"glutamate decarboxylase 1 (brain, 67kD)"	GAD		1549570	Standard	XM_005246443		Approved		uc002ugi.3	Q99259	OTTHUMG00000044175	ENST00000358196.3:c.260G>A	2.37:g.171686099G>A	ENSP00000350928:p.Arg87His					GAD1_ENST00000375272.1_Missense_Mutation_p.R87H|GAD1_ENST00000344257.5_Missense_Mutation_p.R87H|GAD1_ENST00000429023.1_3'UTR	p.R87H	NM_000817.2	NP_000808.2	Q99259	DCE1_HUMAN			4	810	+			87					Q49AK1|Q53TQ7|Q9BU91|Q9UHH4	Missense_Mutation	SNP	ENST00000358196.3	37	c.260G>A	CCDS2239.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	16.43	3.122382	0.56613	0.0	1.16E-4	ENSG00000128683	ENST00000358196;ENST00000375272;ENST00000344257;ENST00000455008;ENST00000456864	T;T;T;T;T	0.79454	2.3;0.43;0.43;-1.27;-1.17	5.37	4.49	0.54785	.	0.293439	0.38326	N	0.001725	T	0.69557	0.3124	L	0.48362	1.52	0.51767	D	0.999939	B;B	0.16603	0.0;0.018	B;B	0.09377	0.001;0.004	T	0.65380	-0.6182	10	0.44086	T	0.13	-2.5091	10.1042	0.42524	0.1529:0.0:0.8471:0.0	.	87;87	Q99259;Q99259-3	DCE1_HUMAN;.	H	87	ENSP00000350928:R87H;ENSP00000364421:R87H;ENSP00000341167:R87H;ENSP00000405917:R87H;ENSP00000394255:R87H	ENSP00000341167:R87H	R	+	2	0	GAD1	171394345	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	1.874000	0.39568	1.240000	0.43803	0.542000	0.68232	CGC		0.537	GAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102664.2			13	102	0	0	0	1	0	13	102					A	171686099	G	A	171686099	3	1	129	1	0	0	0	0	1	0	0	0	6179	1087	38	1	270	1	GAD1	2	171686099	Missense_Mutation	SNP	G	TCGA-EJ-A7NH-01A-12D-A33T-08		171686099	71513274	2	6665											
ABHD14A	25864	broad.mit.edu	37	chr3	52012035	52012035	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	caatgtcacagtcctggctgGtctcacccctggcaactcgc	7	9	9	16	1	2	0	2	0	1	0	5	0	3	0	3	3	1	2	3	3	2	0			TCGA-EJ-A7NH-01A-12D-A33T-08	TCGA-EJ-A7NH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e69e7f2-9350-438e-b4c0-66d28d1681a3	ad22411c-0db0-4ad6-8c80-4134cc51e7ed	g.chr3:52012035G>T	ENST00000273596.3	+	2	286	c.218G>T	c.(217-219)gGt>gTt	p.G73V	ACY1_ENST00000458031.2_Missense_Mutation_p.V25F|ABHD14A_ENST00000491470.1_Missense_Mutation_p.G73V|ABHD14A-ACY1_ENST00000463937.1_Missense_Mutation_p.G73V|ABHD14B_ENST00000483233.1_Intron	NM_015407.4	NP_056222.2	Q9BUJ0	ABHEA_HUMAN	abhydrolase domain containing 14A	73						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	hydrolase activity (GO:0016787)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|stomach(1)	6				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000541)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		GTCCTGGCTGGTCTCACCCCT	0.612																																						ENST00000458031.2																			0				breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	11						c.(73-75)Gtc>Ttc		aminoacylase 1	L-Aspartic Acid(DB00128)						44	43	43					3																	52012035		2203	4300	6503	SO:0001583	missense	95				cellular amino acid metabolic process|proteolysis	cytosol	aminoacylase activity|metal ion binding|metallopeptidase activity	g.chr3:52012035G>T	AY358201	CCDS2843.1	3p21.1	2011-02-14			ENSG00000248487	ENSG00000248487		"Abhydrolase domain containing"	24538	protein-coding gene	gene with protein product							Standard	NM_015407		Approved	DKFZP564O243, DORZ1	uc003dco.3	Q9BUJ0	OTTHUMG00000157818	ENST00000273596.3:c.218G>T	3.37:g.52012035G>T	ENSP00000273596:p.Gly73Val					ABHD14B_ENST00000483233.1_Intron|ABHD14A_ENST00000273596.3_Missense_Mutation_p.G73V|ABHD14A_ENST00000491470.1_Missense_Mutation_p.G73V|ABHD14A-ACY1_ENST00000463937.1_Missense_Mutation_p.G73V	p.V25F			Q03154	ACY1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000534)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	2	304	+			0					Q6UXU8|Q9Y3T7	Missense_Mutation	SNP	ENST00000273596.3	37	c.73G>T	CCDS2843.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.92|19.92	3.915789|3.915789	0.73098|0.73098	.|.	.|.	ENSG00000248487;ENSG00000248487;ENSG00000248487;ENSG00000248487;ENSG00000248487;ENSG00000248487;ENSG00000248487;ENSG00000114786|ENSG00000114786	ENST00000497864;ENST00000494478;ENST00000273596;ENST00000360889;ENST00000452452;ENST00000538216;ENST00000491470;ENST00000463937|ENST00000458031	T;T;T;T;T|T	0.73789|0.76709	0.94;1.25;1.4;0.18;-0.78|-1.04	5.93|5.93	4.12|4.12	0.48240|0.48240	.|.	0.249503|.	0.28688|.	N|.	0.014475|.	T|T	0.73830|0.73830	0.3637|0.3637	L|L	0.58101|0.58101	1.795|1.795	0.44373|0.44373	D|D	0.997274|0.997274	D;D|P	0.89917|0.43169	0.997;1.0|0.8	P;D|B	0.70227|0.42462	0.826;0.968|0.388	T|T	0.73694|0.73694	-0.3902|-0.3902	10|9	0.87932|0.87932	D|D	0|0	-0.3902|-0.3902	8.2923|8.2923	0.31965|0.31965	0.0826:0.1562:0.7612:0.0|0.0826:0.1562:0.7612:0.0	.|.	73;73|25	C9JMV9;Q9BUJ0|B4DNW0	.;ABHEA_HUMAN|.	V|F	138;68;73;29;29;29;73;73|25	ENSP00000418242:G138V;ENSP00000420475:G68V;ENSP00000273596:G73V;ENSP00000418824:G73V;ENSP00000420487:G73V|ENSP00000390557:V25F	ENSP00000273596:G73V|ENSP00000390557:V25F	G|V	+|+	2|1	0|0	RP11-155D18.11;ABHD14A|RP11-155D18.11	51987075|51987075	1.000000|1.000000	0.71417|0.71417	0.989000|0.989000	0.46669|0.46669	0.871000|0.871000	0.50021|0.50021	3.046000|3.046000	0.49846|0.49846	0.829000|0.829000	0.34733|0.34733	0.655000|0.655000	0.94253|0.94253	GGT|GTC		0.612	ABHD14A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349689.1	NM_015407		11	38	1	0	6.40141e-05	1	7.3159e-05	11	38					T	52012035	G	T	52012035	3	4	129	1	0	0	0	0	1	0	0	0	79	1261	44	5	224	5	ABHD14A	3	52012035	Missense_Mutation	SNP	G	TCGA-EJ-A7NH-01A-12D-A33T-08		52012035	146010395	3	6666											
MAML3	55534	broad.mit.edu	37	chr4	140811117	140811117	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgctgctgctgctgctgctgCtgctgttgctgttgctgttt	0	18	13	10	0	0	0	0	0	0	0	0	0	0	0	0	0	10	13	0	0	0	3	rs62344938		TCGA-EJ-A7NH-01A-12D-A33T-08	TCGA-EJ-A7NH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e69e7f2-9350-438e-b4c0-66d28d1681a3	ad22411c-0db0-4ad6-8c80-4134cc51e7ed	g.chr4:140811117C>T	ENST00000509479.2	-	2	2329	c.1473G>A	c.(1471-1473)caG>caA	p.Q491Q	MAML3_ENST00000398940.1_Silent_p.Q30Q|MAML3_ENST00000327122.5_Silent_p.Q335Q	NM_018717.4	NP_061187			mastermind-like 3 (Drosophila)											breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25	all_hematologic(180;0.162)					gctgctgctgctgctgttgct	0.547																																						ENST00000509479.2																			0				breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25						c.(1471-1473)caG>caA		mastermind-like 3 (Drosophila)							16	20	18					4																	140811117		2191	4287	6478	SO:0001819	synonymous_variant	55534				Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity	g.chr4:140811117C>T	AB058719	CCDS54805.1	4q31.1	2014-08-12	2003-09-24		ENSG00000196782	ENSG00000196782			16272	protein-coding gene	gene with protein product	"mastermind (drosophila)-like 3"	608991	"trinucleotide repeat containing 3"	TNRC3		12370315, 12386158	Standard	NM_018717		Approved	KIAA1816, MAM2, CAGH3, GDN	uc021xsg.1	Q96JK9	OTTHUMG00000161441	ENST00000509479.2:c.1473G>A	4.37:g.140811117C>T						MAML3_ENST00000398940.1_Silent_p.Q30Q|MAML3_ENST00000327122.5_Silent_p.Q335Q	p.Q491Q	NM_018717.4	NP_061187.2	Q96JK9	MAML3_HUMAN			2	2329	-	all_hematologic(180;0.162)		491			Gln-rich.			Silent	SNP	ENST00000509479.2	37	c.1473G>A	CCDS54805.1																																																																																				0.547	MAML3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364934.2			3	18	0	0	0	1	0	3	18					T	140811117	C	T	140811117	2	4	129	1	0	0	0	0	0	0	0	1	9207	796	28	3		3	MAML3	4	140811117	Silent	SNP	C	TCGA-EJ-A7NH-01A-12D-A33T-08		140811117	50343159	4	6667											
ZBTB12	221527	broad.mit.edu	37	chr6	31868519	31868519	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcggctttcagctccaagtcTtcatccagtgggaactccag	8	11	9	13	1	3	0	2	0	1	0	7	1	6	1	3	2	2	2	3	2	2	2			TCGA-EJ-A7NH-01A-12D-A33T-08	TCGA-EJ-A7NH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e69e7f2-9350-438e-b4c0-66d28d1681a3	ad22411c-0db0-4ad6-8c80-4134cc51e7ed	g.chr6:31868519T>C	ENST00000375527.2	-	2	739	c.564A>G	c.(562-564)gaA>gaG	p.E188E	C2_ENST00000452323.2_5'Flank|C2_ENST00000469372.1_Intron	NM_181842.2	NP_862825.1	Q9Y330	ZBT12_HUMAN	zinc finger and BTB domain containing 12	188					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(2)|kidney(1)|lung(5)|prostate(1)|skin(1)	10						GCTCCAAGTCTTCATCCAGTG	0.622																																						ENST00000375527.2																			0				endometrium(2)|kidney(1)|lung(5)|prostate(1)|skin(1)	10						c.(562-564)gaA>gaG		zinc finger and BTB domain containing 12							53	44	47					6																	31868519		2158	4217	6375	SO:0001819	synonymous_variant	221527				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:31868519T>C	BC043609	CCDS4727.1	6p21.31	2013-01-08	2004-04-15	2004-04-16	ENSG00000204366	ENSG00000204366		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	19066	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 46"	C6orf46		9545376	Standard	NM_181842		Approved	G10, NG35, D6S59E	uc003nyd.1	Q9Y330	OTTHUMG00000031169	ENST00000375527.2:c.564A>G	6.37:g.31868519T>C						C2_ENST00000469372.1_Intron	p.E188E	NM_181842.2	NP_862825.1	Q9Y330	ZBT12_HUMAN			2	739	-			188					B0UY00|Q5JQ98	Silent	SNP	ENST00000375527.2	37	c.564A>G	CCDS4727.1																																																																																				0.622	ZBTB12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076315.2	NM_181842		3	46	0	0	0	1	0	3	46					C	31868519	T	C	31868519	2	2	129	1	0	0	0	0	0	0	0	1	17522	1606	56	4		4	ZBTB12	6	31868519	Silent	SNP	T	TCGA-EJ-A7NH-01A-12D-A33T-08		31868519	139246548	5	6668											
BAI3	577	broad.mit.edu	37	chr6	69348838	69348838	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cactcctggcttatcagtttGatcatttttcccatgaaaaa	11	15	5	10	0	2	2	2	2	0	0	4	2	4	2	2	1	0	2	2	1	3	4			TCGA-EJ-A7NH-01A-12D-A33T-08	TCGA-EJ-A7NH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e69e7f2-9350-438e-b4c0-66d28d1681a3	ad22411c-0db0-4ad6-8c80-4134cc51e7ed	g.chr6:69348838G>A	ENST00000370598.1	+	3	1092	c.271G>A	c.(271-273)Gat>Aat	p.D91N		NM_001704.2	NP_001695	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	91	CUB. {ECO:0000255|PROSITE- ProRule:PRU00059}.				G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				TTATCAGTTTGATCATTTTTC	0.343																																						ENST00000370598.1																			0				NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210						c.(271-273)Gat>Aat		brain-specific angiogenesis inhibitor 3							53	59	57					6																	69348838		2201	4300	6501	SO:0001583	missense	577				negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr6:69348838G>A	AB005299	CCDS4968.1	6q12	2014-08-08			ENSG00000135298	ENSG00000135298		"-", "GPCR / Class B : Orphans"	945	protein-coding gene	gene with protein product		602684				9533023	Standard	NM_001704		Approved	KIAA0550	uc003pev.4	O60242	OTTHUMG00000014982	ENST00000370598.1:c.271G>A	6.37:g.69348838G>A	ENSP00000359630:p.Asp91Asn						p.D91N	NM_001704.2	NP_001695.1	O60242	BAI3_HUMAN			3	1092	+		all_lung(197;0.212)	91			CUB.		B7Z1K0|O60297|Q2NKN6|Q5VY37|Q9BX54	Missense_Mutation	SNP	ENST00000370598.1	37	c.271G>A	CCDS4968.1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.257332	0.80246	.	.	ENSG00000135298	ENST00000370598	T	0.50548	0.74	5.32	5.32	0.75619	CUB (1);	0.000000	0.85682	D	0.000000	T	0.60907	0.2305	L	0.57536	1.79	0.80722	D	1	D	0.63880	0.993	D	0.70935	0.971	T	0.63528	-0.6617	10	0.87932	D	0	.	19.3677	0.94471	0.0:0.0:1.0:0.0	.	91	O60242	BAI3_HUMAN	N	91	ENSP00000359630:D91N	ENSP00000359630:D91N	D	+	1	0	BAI3	69405559	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.416000	0.97383	2.634000	0.89283	0.655000	0.94253	GAT		0.343	BAI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041120.1			8	45	0	0	0	1	0	8	45					A	69348838	G	A	69348838	3	1	129	1	0	0	0	0	1	0	0	0	1300	1290	45	3	273	3	BAI3	6	69348838	Missense_Mutation	SNP	G	TCGA-EJ-A7NH-01A-12D-A33T-08	37480319	69348838	101766229	6	6669											
COX7A2	1347	broad.mit.edu	37	chr6	75950898	75950898	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aaatacttcagtacctggaaCagtttttgcttctccggaac	11	13	7	10	1	2	0	1	0	1	0	3	2	2	2	2	2	5	3	2	2	5	6			TCGA-EJ-A7NH-01A-12D-A33T-08	TCGA-EJ-A7NH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e69e7f2-9350-438e-b4c0-66d28d1681a3	ad22411c-0db0-4ad6-8c80-4134cc51e7ed	g.chr6:75950898C>T	ENST00000230459.4	-	2	295	c.102G>A	c.(100-102)ctG>ctA	p.L34L	COX7A2_ENST00000370081.2_Silent_p.L66L|COX7A2_ENST00000509698.1_Silent_p.L34L|COX7A2_ENST00000460985.1_Intron|COX7A2_ENST00000370089.2_Silent_p.L66L|COX7A2_ENST00000472311.2_Silent_p.L34L	NM_001865.3	NP_001856.2	P14406	CX7A2_HUMAN	cytochrome c oxidase subunit VIIa polypeptide 2 (liver)	34						extracellular vesicular exosome (GO:0070062)|mitochondrial respiratory chain (GO:0005746)	cytochrome-c oxidase activity (GO:0004129)			kidney(2)|lung(1)	3						GTACCTGGAACAGTTTTTGCT	0.348																																						ENST00000370081.2																			0				kidney(2)|lung(1)	3						c.(196-198)ctG>ctA		cytochrome c oxidase subunit VIIa polypeptide 2 (liver)							104	120	114					6																	75950898		2203	4300	6503	SO:0001819	synonymous_variant	1347					mitochondrial respiratory chain	cytochrome-c oxidase activity|electron carrier activity	g.chr6:75950898C>T	X15822	CCDS34486.1, CCDS34486.2	6q14.1	2011-07-04			ENSG00000112695	ENSG00000112695	1.9.3.1	"Mitochondrial respiratory chain complex / Complex IV"	2288	protein-coding gene	gene with protein product		123996				1327965, 9202412	Standard	NM_001865		Approved	COXVIIa-L, COX7AL	uc003phv.2	P14406	OTTHUMG00000015049	ENST00000230459.4:c.102G>A	6.37:g.75950898C>T						COX7A2_ENST00000230459.4_Silent_p.L34L|COX7A2_ENST00000472311.2_Silent_p.L34L|COX7A2_ENST00000509698.1_Silent_p.L34L|COX7A2_ENST00000460985.1_Intron|COX7A2_ENST00000370089.2_Silent_p.L66L	p.L66L			P14406	CX7A2_HUMAN			3	508	-			34					B2R5E1|Q3MIH5|Q5TF59|Q6FGI2	Silent	SNP	ENST00000230459.4	37	c.198G>A																																																																																					0.348	COX7A2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001865		15	130	0	0	0	1	0	15	130					T	75950898	C	T	75950898	2	4	129	1	0	0	0	0	0	0	0	1	3780	465	17	3		3	COX7A2	6	75950898	Silent	SNP	C	TCGA-EJ-A7NH-01A-12D-A33T-08	6602060	75950898	95164169	7	6670											
TBX18	9096	broad.mit.edu	37	chr6	85446895	85446895	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggggcaaaggtctcaccagcCtggttggtgagcctgttgta	7	10	15	9	0	1	1	1	1	1	0	2	1	1	1	3	5	2	4	3	5	2	3			TCGA-EJ-A7NH-01A-12D-A33T-08	TCGA-EJ-A7NH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e69e7f2-9350-438e-b4c0-66d28d1681a3	ad22411c-0db0-4ad6-8c80-4134cc51e7ed	g.chr6:85446895C>T	ENST00000369663.5	-	8	1669	c.1332G>A	c.(1330-1332)caG>caA	p.Q444Q	TBX18_ENST00000606784.1_Intron	NM_001080508.1	NP_001073977.1	O95935	TBX18_HUMAN	T-box 18	444					anterior/posterior axis specification (GO:0009948)|cochlea morphogenesis (GO:0090103)|morphogenesis of embryonic epithelium (GO:0016331)|negative regulation of canonical Wnt signaling pathway involved in neural plate anterior/posterior pattern formation (GO:0060829)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of mesenchymal cell proliferation involved in ureter development (GO:2000729)|sensory perception of sound (GO:0007605)|sinoatrial node development (GO:0003163)|smooth muscle cell differentiation (GO:0051145)|somitogenesis (GO:0001756)|ureter development (GO:0072189)	nucleus (GO:0005634)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(9)|liver(1)|lung(31)|ovary(2)|pancreas(3)|prostate(6)|skin(3)	61		all_cancers(76;0.000283)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0858)		BRCA - Breast invasive adenocarcinoma(108;0.0267)		TCTCACCAGCCTGGTTGGTGA	0.607																																						ENST00000369663.5																			0				NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(9)|liver(1)|lung(31)|ovary(2)|pancreas(3)|prostate(6)|skin(3)	61						c.(1330-1332)caG>caA		T-box 18							106	94	98					6																	85446895		2203	4300	6503	SO:0001819	synonymous_variant	9096				multicellular organismal development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr6:85446895C>T	AJ010278	CCDS34495.1	6q14.1-q15	2012-12-19			ENSG00000112837	ENSG00000112837		"T-boxes"	11595	protein-coding gene	gene with protein product		604613				9888994, 16688725, 23242162	Standard	NM_001080508		Approved		uc003pkl.2	O95935	OTTHUMG00000015129	ENST00000369663.5:c.1332G>A	6.37:g.85446895C>T						TBX18_ENST00000606784.1_Intron	p.Q444Q	NM_001080508.1	NP_001073977.1	O95935	TBX18_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0267)	8	1669	-		all_cancers(76;0.000283)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0858)	444					A2RU13|Q7Z6U4|Q9UJI6	Silent	SNP	ENST00000369663.5	37	c.1332G>A	CCDS34495.1																																																																																				0.607	TBX18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041378.2	NM_001080508		12	60	0	0	0	1	0	12	60					T	85446895	C	T	85446895	2	4	129	1	0	0	0	0	0	0	0	1	15650	680	24	3		3	TBX18	6	85446895	Silent	SNP	C	TCGA-EJ-A7NH-01A-12D-A33T-08	9495997	85446895	85668172	8	6671											
TFEC	22797	broad.mit.edu	37	chr7	115581955	115581955	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcttataaaaacctgaatccGaagtagaagtcgcctgttag	14	11	8	8	2	1	2	0	1	1	1	3	3	2	2	3	0	1	2	3	0	9	4			TCGA-EJ-A7NH-01A-12D-A33T-08	TCGA-EJ-A7NH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e69e7f2-9350-438e-b4c0-66d28d1681a3	ad22411c-0db0-4ad6-8c80-4134cc51e7ed	g.chr7:115581955G>A	ENST00000265440.7	-	7	835	c.655C>T	c.(655-657)Cgg>Tgg	p.R219W	TFEC_ENST00000393485.1_Missense_Mutation_p.R190W|TFEC_ENST00000320239.7_Missense_Mutation_p.R190W|TFEC_ENST00000457268.1_Missense_Mutation_p.R152W|TFEC_ENST00000484212.1_Missense_Mutation_p.R309W	NM_012252.3	NP_036384.1	O14948	TFEC_HUMAN	transcription factor EC	219					cellular response to heat (GO:0034605)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			NS(1)|kidney(1)|large_intestine(5)|lung(13)|prostate(2)|skin(1)|urinary_tract(2)	25			STAD - Stomach adenocarcinoma(10;0.00878)			ACCTGAATCCGAAGTAGAAGT	0.398																																						ENST00000265440.7																			0				NS(1)|kidney(1)|large_intestine(5)|lung(13)|prostate(2)|skin(1)|urinary_tract(2)	25						c.(655-657)Cgg>Tgg		transcription factor EC							159	156	157					7																	115581955		2203	4300	6503	SO:0001583	missense	22797					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity	g.chr7:115581955G>A	D43945	CCDS5762.1, CCDS34738.1, CCDS59076.1	7q31.2	2013-05-21			ENSG00000105967	ENSG00000105967		"Basic helix-loop-helix proteins"	11754	protein-coding gene	gene with protein product		604732				9256061	Standard	NM_012252		Approved	TCFEC, TFECL, bHLHe34	uc003vhj.2	O14948	OTTHUMG00000023518	ENST00000265440.7:c.655C>T	7.37:g.115581955G>A	ENSP00000265440:p.Arg219Trp					TFEC_ENST00000393485.1_Missense_Mutation_p.R190W|TFEC_ENST00000457268.1_Missense_Mutation_p.R152W|TFEC_ENST00000484212.1_Missense_Mutation_p.R309W|TFEC_ENST00000320239.7_Missense_Mutation_p.R190W	p.R219W	NM_012252.3	NP_036384.1	O14948	TFEC_HUMAN	STAD - Stomach adenocarcinoma(10;0.00878)		7	835	-			219					B2R8X5|Q5H9U8|Q709A4|Q8N6J9	Missense_Mutation	SNP	ENST00000265440.7	37	c.655C>T	CCDS5762.1	.	.	.	.	.	.	.	.	.	.	G	19.00	3.742117	0.69418	.	.	ENSG00000105967	ENST00000265440;ENST00000457268;ENST00000320239;ENST00000393485;ENST00000484212	T;T;T;T;T	0.33865	1.8;2.09;1.83;1.88;1.39	5.57	4.68	0.58851	.	0.000000	0.85682	D	0.000000	T	0.61073	0.2318	M	0.75085	2.285	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;1.0;0.984;0.945	T	0.66842	-0.5821	10	0.87932	D	0	-13.6557	15.7829	0.78275	0.0:0.0:0.8627:0.1373	.	309;190;190;219	B7Z757;O14948-3;O14948-2;O14948	.;.;.;TFEC_HUMAN	W	219;152;190;190;309	ENSP00000265440:R219W;ENSP00000387650:R152W;ENSP00000318676:R190W;ENSP00000377125:R190W;ENSP00000417432:R309W	ENSP00000265440:R219W	R	-	1	2	TFEC	115369191	1.000000	0.71417	0.993000	0.49108	0.968000	0.65278	5.167000	0.64972	1.318000	0.45170	0.655000	0.94253	CGG		0.398	TFEC-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000059839.4	NM_012252		30	135	0	0	0	1	0	30	135					A	115581955	G	A	115581955	3	1	129	1	0	0	0	0	1	0	0	0	15799	1057	37	2	396	2	TFEC	7	115581955	Missense_Mutation	SNP	G	TCGA-EJ-A7NH-01A-12D-A33T-08		115581955	43556708	9	6672											
DGKI	9162	broad.mit.edu	37	chr7	137237167	137237167	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gctcttctgtaccatgttggCctgattcctcagggagatcc	6	13	10	12	0	3	2	1	1	2	1	5	3	5	2	4	2	1	3	4	2	1	4			TCGA-EJ-A7NH-01A-12D-A33T-08	TCGA-EJ-A7NH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e69e7f2-9350-438e-b4c0-66d28d1681a3	ad22411c-0db0-4ad6-8c80-4134cc51e7ed	g.chr7:137237167C>T	ENST00000288490.5	-	20	2095	c.2095G>A	c.(2095-2097)Gcc>Acc	p.A699T	DGKI_ENST00000453654.2_Missense_Mutation_p.A399T|DGKI_ENST00000446122.1_Missense_Mutation_p.A699T|DGKI_ENST00000424189.2_Missense_Mutation_p.A699T	NM_004717.2	NP_004708.1	O75912	DGKI_HUMAN	diacylglycerol kinase, iota	699					blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|positive regulation of Ras protein signal transduction (GO:0046579)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of Rap GTPase activity (GO:0032317)	cytoplasm (GO:0005737)|guanyl-nucleotide exchange factor complex (GO:0032045)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|GTPase inhibitor activity (GO:0005095)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(46)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	84						ACCATGTTGGCCTGATTCCTC	0.493																																						ENST00000453654.1																			0				breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(46)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	84						c.(1195-1197)Gcc>Acc		diacylglycerol kinase, iota							172	137	149					7																	137237167		2203	4300	6503	SO:0001583	missense	9162				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding	g.chr7:137237167C>T	AF061936	CCDS5845.1	7q32.3-q33	2013-01-10			ENSG00000157680	ENSG00000157680		"Ankyrin repeat domain containing"	2855	protein-coding gene	gene with protein product		604072				9830018	Standard	NM_004717		Approved	DGK-IOTA	uc003vtt.3	O75912	OTTHUMG00000155697	ENST00000288490.5:c.2095G>A	7.37:g.137237167C>T	ENSP00000288490:p.Ala699Thr					DGKI_ENST00000446122.1_Missense_Mutation_p.A699T|DGKI_ENST00000424189.2_Missense_Mutation_p.A699T|DGKI_ENST00000288490.5_Missense_Mutation_p.A699T	p.A399T			O75912	DGKI_HUMAN			20	1734	-			699			DAGKc.		A4D1Q9|Q9NZ49	Missense_Mutation	SNP	ENST00000288490.5	37	c.1195G>A	CCDS5845.1	.	.	.	.	.	.	.	.	.	.	C	35	5.561679	0.96527	.	.	ENSG00000157680	ENST00000453654;ENST00000540376;ENST00000424189;ENST00000288490;ENST00000446122	T;T;T	0.43294	1.57;0.95;1.15	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	T	0.68054	0.2959	M	0.79475	2.455	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.80764	0.987;0.994	T	0.69053	-0.5247	10	0.62326	D	0.03	.	20.1253	0.97977	0.0:1.0:0.0:0.0	.	399;699	E9PFX6;O75912	.;DGKI_HUMAN	T	399;647;699;699;699	ENSP00000392161:A399T;ENSP00000288490:A699T;ENSP00000399131:A699T	ENSP00000288490:A699T	A	-	1	0	DGKI	136887707	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.776000	0.85560	2.832000	0.97577	0.655000	0.94253	GCC		0.493	DGKI-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341286.3	NM_004717		26	93	0	0	0	1	0	26	93					T	137237167	C	T	137237167	3	4	129	1	0	0	0	0	1	0	0	0	4471	739	26	3	1162	3	DGKI	7	137237167	Missense_Mutation	SNP	C	TCGA-EJ-A7NH-01A-12D-A33T-08	21655212	137237167	21901496	10	6673											
MLL3	58508	broad.mit.edu	37	chr7	151873585	151873585	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgggtttacctgcacaccctGagaaaaaacatggtttaccc	12	10	8	11	0	0	1	0	1	0	1	0	2	0	1	3	2	4	3	3	2	5	4			TCGA-EJ-A7NH-01A-12D-A33T-08	TCGA-EJ-A7NH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e69e7f2-9350-438e-b4c0-66d28d1681a3	ad22411c-0db0-4ad6-8c80-4134cc51e7ed	g.chr7:151873585G>A	ENST00000262189.6	-	38	9171	c.8953C>T	c.(8953-8955)Cag>Tag	p.Q2985*	KMT2C_ENST00000355193.2_Nonsense_Mutation_p.Q2985*	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	2985					histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										TGCACACCCTGAGAAAAAACA	0.473																																						ENST00000355193.2																			0											c.(8953-8955)Cag>Tag		lysine (K)-specific methyltransferase 2C							57	55	56					7																	151873585		2203	4300	6503	SO:0001587	stop_gained	58508							g.chr7:151873585G>A	AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	13726	protein-coding gene	gene with protein product		606833	"myeloid/lymphoid or mixed-lineage leukemia 3"	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.8953C>T	7.37:g.151873585G>A	ENSP00000262189:p.Gln2985*					KMT2C_ENST00000262189.6_Nonsense_Mutation_p.Q2985*	p.Q2985*							38	9171	-								Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Nonsense_Mutation	SNP	ENST00000262189.6	37	c.8953C>T	CCDS5931.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	52|52	18.640446|18.640446	0.99908|0.99908	.|.	.|.	ENSG00000055609|ENSG00000055609	ENST00000262189;ENST00000355193|ENST00000360104	.|D	.|0.85629	.|-2.01	5.47|5.47	5.47|5.47	0.80525|0.80525	.|.	0.161488|.	0.28589|.	N|.	0.014805|.	.|D	.|0.91815	.|0.7410	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|D	.|0.91950	.|0.5570	.|6	0.08837|0.56958	T|D	0.75|0.05	.|.	19.3349|19.3349	0.94312|0.94312	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	X|L	2985|490	.|ENSP00000353218:S490L	ENSP00000262189:Q2985X|ENSP00000353218:S490L	Q|S	-|-	1|2	0|0	MLL3|MLL3	151504518|151504518	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.942000|0.942000	0.58702|0.58702	5.160000|5.160000	0.64929|0.64929	2.570000|2.570000	0.86706|0.86706	0.655000|0.655000	0.94253|0.94253	CAG|TCA		0.473	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3			7	44	0	0	0	1	0	7	44					A	151873585	G	A	151873585	4	1	129	1	0	0	0	0	0	1	0	0	9622	1299	45	3	5870	3	MLL3	7	151873585	Nonsense_Mutation	SNP	G	TCGA-EJ-A7NH-01A-12D-A33T-08	14636418	151873585	7265078	11	6674											
TRPA1	8989	broad.mit.edu	37	chr8	72936047	72936047	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agatagaaggaaaaatacatAccggtatttctgctttaata	17	12	7	5	1	1	2	0	0	1	2	1	3	1	3	1	2	3	2	1	2	9	8			TCGA-EJ-A7NH-01A-12D-A33T-08	TCGA-EJ-A7NH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e69e7f2-9350-438e-b4c0-66d28d1681a3	ad22411c-0db0-4ad6-8c80-4134cc51e7ed	g.chr8:72936047A>G	ENST00000262209.4	-	26	3357		c.e26+1		RP11-383H13.1_ENST00000524152.1_Intron|RP11-383H13.1_ENST00000457356.4_Intron|RP11-383H13.1_ENST00000537896.1_Intron	NM_007332.2	NP_015628.2	O75762	TRPA1_HUMAN	transient receptor potential cation channel, subfamily A, member 1						calcium ion transmembrane transport (GO:0070588)|detection of chemical stimulus involved in sensory perception of pain (GO:0050968)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|response to cold (GO:0009409)|response to drug (GO:0042493)|response to hydrogen peroxide (GO:0042542)|response to pain (GO:0048265)|thermoception (GO:0050955)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|stereocilium bundle (GO:0032421)	calcium channel activity (GO:0005262)|channel activity (GO:0015267)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1)	98			Epithelial(68;0.223)		Menthol(DB00825)	AAAAATACATACCGGTATTTC	0.244																																						ENST00000262209.4																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1)	98						c.e26+1		transient receptor potential cation channel, subfamily A, member 1	Menthol(DB00825)						58	66	63					8																	72936047		2198	4293	6491	SO:0001630	splice_region_variant	8989					integral to plasma membrane		g.chr8:72936047A>G	Y10601	CCDS34908.1	8q13	2013-01-10	2003-11-20	2003-11-20	ENSG00000104321	ENSG00000104321		"Voltage-gated ion channels / Transient receptor potential cation channels", "Ankyrin repeat domain containing"	497	protein-coding gene	gene with protein product		604775	"ankyrin-like with transmembrane domains 1"	ANKTM1		16382100	Standard	NM_007332		Approved		uc003xza.3	O75762	OTTHUMG00000164516	ENST00000262209.4:c.3149+1T>C	8.37:g.72936047A>G						RP11-383H13.1_ENST00000524152.1_Intron|RP11-383H13.1_ENST00000457356.4_Intron|RP11-383H13.1_ENST00000537896.1_Intron		NM_007332.2	NP_015628.2	O75762	TRPA1_HUMAN	Epithelial(68;0.223)		26	3357	-								A6NIN6	Splice_Site	SNP	ENST00000262209.4	37		CCDS34908.1	.	.	.	.	.	.	.	.	.	.	A	11.30	1.598490	0.28445	.	.	ENSG00000104321	ENST00000523582;ENST00000262209	.	.	.	5.82	5.82	0.92795	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.423	0.67196	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TRPA1	73098601	1.000000	0.71417	1.000000	0.80357	0.233000	0.25261	5.785000	0.68998	2.234000	0.73211	0.533000	0.62120	.		0.244	TRPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379079.2	NM_007332	Intron	11	51	0	0	0	1	0	11	51					G	72936047	A	G	72936047	5	3	129	1	0	0	0	0	0	0	1	0	16574	405	14	4	216	4	TRPA1	8	72936047	Splice_Site	SNP	A	TCGA-EJ-A7NH-01A-12D-A33T-08		72936047	73427975	12	6675											
APBA1	320	broad.mit.edu	37	chr9	72131101	72131101	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccagcgagatggcatcgcgCttctccttgctgtaccgctg	5	10	12	14	4	1	1	0	0	1	1	3	2	1	1	3	1	3	5	3	1	1	3			TCGA-EJ-A7NH-01A-12D-A33T-08	TCGA-EJ-A7NH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e69e7f2-9350-438e-b4c0-66d28d1681a3	ad22411c-0db0-4ad6-8c80-4134cc51e7ed	g.chr9:72131101C>T	ENST00000265381.4	-	2	1248	c.1026G>A	c.(1024-1026)aaG>aaA	p.K342K		NM_001163.3	NP_001154.2	Q02410	APBA1_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 1	342					axon cargo transport (GO:0008088)|cell adhesion (GO:0007155)|gamma-aminobutyric acid secretion (GO:0014051)|glutamate secretion (GO:0014047)|in utero embryonic development (GO:0001701)|intracellular protein transport (GO:0006886)|locomotory behavior (GO:0007626)|multicellular organism growth (GO:0035264)|nervous system development (GO:0007399)|protein complex assembly (GO:0006461)|regulation of gene expression (GO:0010468)|synaptic transmission (GO:0007268)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|synaptic vesicle (GO:0008021)	beta-amyloid binding (GO:0001540)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			endometrium(4)|kidney(2)|large_intestine(12)|lung(13)|prostate(3)|skin(3)	37						TGGCATCGCGCTTCTCCTTGC	0.711																																						ENST00000265381.4																			0				endometrium(4)|kidney(2)|large_intestine(12)|lung(13)|prostate(3)|skin(3)	37						c.(1024-1026)aaG>aaA		amyloid beta (A4) precursor protein-binding, family A, member 1							79	58	65					9																	72131101		2203	4300	6503	SO:0001819	synonymous_variant	320				axon cargo transport|cell adhesion|intracellular protein transport|nervous system development|protein complex assembly|synaptic transmission	synaptic vesicle		g.chr9:72131101C>T	AF029106	CCDS6630.1	9q13-q21	2008-07-18	2008-07-18		ENSG00000107282	ENSG00000107282			578	protein-coding gene	gene with protein product		602414		MINT1		7678331, 7719031	Standard	NM_001163		Approved	D9S411E, X11	uc004ahh.2	Q02410	OTTHUMG00000019984	ENST00000265381.4:c.1026G>A	9.37:g.72131101C>T							p.K342K	NM_001163.3	NP_001154.2	Q02410	APBA1_HUMAN			2	1248	-			342					O14914|O60570|Q5VYR8	Silent	SNP	ENST00000265381.4	37	c.1026G>A	CCDS6630.1																																																																																				0.711	APBA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052589.2	NM_001163		14	56	0	0	0	1	0	14	56					T	72131101	C	T	72131101	2	4	129	1	0	0	0	0	0	0	0	1	756	796	28	3		3	APBA1	9	72131101	Silent	SNP	C	TCGA-EJ-A7NH-01A-12D-A33T-08		72131101	69082330	13	6676											
SPTAN1	6709	broad.mit.edu	37	chr9	131370264	131370264	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgatattcttgaccaggagcGtgcagacctggagaaggcct	10	9	13	9	1	1	4	0	2	1	2	1	6	1	5	3	3	2	1	3	3	2	3			TCGA-EJ-A7NH-01A-12D-A33T-08	TCGA-EJ-A7NH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e69e7f2-9350-438e-b4c0-66d28d1681a3	ad22411c-0db0-4ad6-8c80-4134cc51e7ed	g.chr9:131370264G>A	ENST00000372731.4	+	33	4390	c.4280G>A	c.(4279-4281)cGt>cAt	p.R1427H	SPTAN1_ENST00000372739.3_Missense_Mutation_p.R1427H|SPTAN1_ENST00000358161.5_Missense_Mutation_p.R1427H	NM_001195532.1|NM_003127.3	NP_001182461.1|NP_003118.2	Q13813	SPTN1_HUMAN	spectrin, alpha, non-erythrocytic 1	1427					actin filament capping (GO:0051693)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)	cuticular plate (GO:0032437)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intracellular membrane-bounded organelle (GO:0043231)|lateral plasma membrane (GO:0016328)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|spectrin (GO:0008091)|vesicle (GO:0031982)|Z disc (GO:0030018)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						GACCAGGAGCGTGCAGACCTG	0.527																																					NSCLC(120;833 1744 2558 35612 37579)	ENST00000358161.5																			0				NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						c.(4279-4281)cGt>cAt		spectrin, alpha, non-erythrocytic 1							95	101	99					9																	131370264		2203	4300	6503	SO:0001583	missense	6709				actin filament capping|axon guidance|cellular component disassembly involved in apoptosis	cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin	actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton	g.chr9:131370264G>A	M19725	CCDS6905.1, CCDS48036.1, CCDS75914.1	9q34.11	2013-01-10	2012-06-15		ENSG00000197694	ENSG00000197694		"EF-hand domain containing"	11273	protein-coding gene	gene with protein product	"alpha-fodrin"	182810				3336352	Standard	NM_003127		Approved		uc004bvm.4	Q13813	OTTHUMG00000020754	ENST00000372731.4:c.4280G>A	9.37:g.131370264G>A	ENSP00000361816:p.Arg1427His					SPTAN1_ENST00000372731.4_Missense_Mutation_p.R1427H|SPTAN1_ENST00000372739.3_Missense_Mutation_p.R1427H	p.R1427H			Q13813	SPTA2_HUMAN			33	4393	+			1427					Q13186|Q15324|Q16606|Q59EF1|Q5VXV5|Q5VXV6|Q7Z6M5|Q9P0V0	Missense_Mutation	SNP	ENST00000372731.4	37	c.4280G>A	CCDS6905.1	.	.	.	.	.	.	.	.	.	.	G	34	5.371149	0.95923	.	.	ENSG00000197694	ENST00000358161;ENST00000372731;ENST00000372739;ENST00000372719	T;T;T	0.51325	0.71;0.71;0.71	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	T	0.71643	0.3364	M	0.78344	2.41	0.80722	D	1	D;D;D	0.89917	1.0;0.99;0.992	D;B;B	0.87578	0.998;0.264;0.383	T	0.72107	-0.4390	10	0.54805	T	0.06	.	19.96	0.97242	0.0:0.0:1.0:0.0	.	1407;1427;1427	Q13813-3;Q13813-2;Q13813	.;.;SPTA2_HUMAN	H	1427;1427;1427;1407	ENSP00000350882:R1427H;ENSP00000361816:R1427H;ENSP00000361824:R1427H	ENSP00000350882:R1427H	R	+	2	0	SPTAN1	130410085	1.000000	0.71417	0.998000	0.56505	0.847000	0.48162	9.813000	0.99286	2.793000	0.96121	0.561000	0.74099	CGT		0.527	SPTAN1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054472.1	NM_003127		13	70	0	0	0	1	0	13	70					A	131370264	G	A	131370264	3	1	129	1	0	0	0	0	1	0	0	0	15116	1145	40	1	4406	1	SPTAN1	9	131370264	Missense_Mutation	SNP	G	TCGA-EJ-A7NH-01A-12D-A33T-08	59239163	131370264	9843167	14	6677											
FADS3	3995	broad.mit.edu	37	chr11	61643432	61643432	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ccggctgtagttgtgtctcgGcatcctggggaagaggctgg	5	10	17	9	2	1	1	0	0	1	1	3	2	2	2	2	6	0	5	2	6	2	2			TCGA-EJ-A7NH-01A-12D-A33T-08	TCGA-EJ-A7NH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e69e7f2-9350-438e-b4c0-66d28d1681a3	ad22411c-0db0-4ad6-8c80-4134cc51e7ed	g.chr11:61643432G>A	ENST00000278829.2	-	11	1329	c.1177C>T	c.(1177-1179)Ccg>Tcg	p.P393S	FADS3_ENST00000540820.1_3'UTR|FADS3_ENST00000527697.1_Missense_Mutation_p.P278S|FADS3_ENST00000525588.1_Missense_Mutation_p.P365S	NM_021727.3	NP_068373.1	Q9Y5Q0	FADS3_HUMAN	fatty acid desaturase 3	393					unsaturated fatty acid biosynthetic process (GO:0006636)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxidoreductase activity, acting on paired donors, with oxidation of a pair of donors resulting in the reduction of molecular oxygen to two molecules of water (GO:0016717)			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						TTGTGTCTCGGCATCCTGGGG	0.657																																						ENST00000278829.2																			0				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						c.(1177-1179)Ccg>Tcg		fatty acid desaturase 3							58	69	65					11																	61643432		2202	4299	6501	SO:0001583	missense	3995				electron transport chain|transport|unsaturated fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|membrane fraction	heme binding|oxidoreductase activity, acting on paired donors, with oxidation of a pair of donors resulting in the reduction of molecular oxygen to two molecules of water	g.chr11:61643432G>A		CCDS8013.1	11q12-q13.1	2013-01-25			ENSG00000221968	ENSG00000221968	1.14.19.3	"Fatty acid desaturases"	3576	protein-coding gene	gene with protein product	"delta-9-desaturase"	606150		LLCDL3			Standard	NM_021727		Approved	CYB5RP	uc001nsm.3	Q9Y5Q0	OTTHUMG00000167500	ENST00000278829.2:c.1177C>T	11.37:g.61643432G>A	ENSP00000278829:p.Pro393Ser					FADS3_ENST00000527697.1_Missense_Mutation_p.P278S|FADS3_ENST00000525588.1_Missense_Mutation_p.P365S|FADS3_ENST00000540820.1_3'UTR	p.P393S	NM_021727.3	NP_068373.1	Q9Y5Q0	FADS3_HUMAN			11	1329	-			393					O60426	Missense_Mutation	SNP	ENST00000278829.2	37	c.1177C>T	CCDS8013.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	22.2|22.2	4.257607|4.257607	0.80246|0.80246	.|.	.|.	ENSG00000221968|ENSG00000221968	ENST00000525094|ENST00000527697;ENST00000278829;ENST00000525588	.|T;T;T	.|0.23147	.|1.92;1.92;1.92	5.22|5.22	4.29|4.29	0.51040|0.51040	.|Fatty acid desaturase, type 1 (1);	.|.	.|.	.|.	.|.	T|T	0.52208|0.52208	0.1720|0.1720	M|M	0.82056|0.82056	2.57|2.57	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.87578	.|0.998;0.998	T|T	0.56444|0.56444	-0.7978|-0.7978	5|9	.|0.51188	.|T	.|0.08	-7.5714|-7.5714	13.8538|13.8538	0.63513|0.63513	0.0:0.0:0.846:0.154|0.0:0.0:0.846:0.154	.|.	.|278;393	.|E9PKP8;Q9Y5Q0	.|.;FADS3_HUMAN	V|S	63|278;393;365	.|ENSP00000431533:P278S;ENSP00000278829:P393S;ENSP00000432206:P365S	.|ENSP00000278829:P393S	A|P	-|-	2|1	0|0	FADS3|FADS3	61400008|61400008	1.000000|1.000000	0.71417|0.71417	0.993000|0.993000	0.49108|0.49108	0.984000|0.984000	0.73092|0.73092	8.761000|8.761000	0.91691|0.91691	1.172000|1.172000	0.42781|0.42781	0.655000|0.655000	0.94253|0.94253	GCC|CCG		0.657	FADS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394836.1			4	90	0	0	0	1	0	4	90					A	61643432	G	A	61643432	3	1	129	1	0	0	0	0	1	0	0	0	5367	1203	42	3	168	3	FADS3	11	61643432	Missense_Mutation	SNP	G	TCGA-EJ-A7NH-01A-12D-A33T-08		61643432	73363084	15	6678											
PFKM	5213	broad.mit.edu	37	chr12	48539011	48539011	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agggcggatctttgccaataCtccagattcgggctgtgttc	7	12	12	10	2	1	1	0	0	1	1	4	2	2	2	2	3	2	2	2	3	2	4			TCGA-EJ-A7NH-01A-12D-A33T-08	TCGA-EJ-A7NH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e69e7f2-9350-438e-b4c0-66d28d1681a3	ad22411c-0db0-4ad6-8c80-4134cc51e7ed	g.chr12:48539011C>T	ENST00000312352.7	+	22	2150	c.2111C>T	c.(2110-2112)aCt>aTt	p.T704I	PFKM_ENST00000359794.5_Missense_Mutation_p.T704I|PFKM_ENST00000547587.1_Missense_Mutation_p.T704I|PFKM_ENST00000551804.1_Missense_Mutation_p.T673I|PFKM_ENST00000340802.6_Missense_Mutation_p.T775I|PFKM_ENST00000395233.2_Missense_Mutation_p.T673I	NM_001166687.1	NP_001160159.1	P08237	PFKAM_HUMAN	phosphofructokinase, muscle	704	C-terminal regulatory PFK domain 2.				carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|fructose 6-phosphate metabolic process (GO:0006002)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|muscle cell cellular homeostasis (GO:0046716)|positive regulation of insulin secretion (GO:0032024)|protein oligomerization (GO:0051259)|small molecule metabolic process (GO:0044281)	6-phosphofructokinase complex (GO:0005945)|apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|sperm principal piece (GO:0097228)	6-phosphofructokinase activity (GO:0003872)|ATP binding (GO:0005524)|fructose binding (GO:0070061)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)			NS(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	35						TTTGCCAATACTCCAGATTCG	0.542																																						ENST00000340802.6																			0				NS(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	35						c.(2323-2325)aCt>aTt		phosphofructokinase, muscle							133	127	129					12																	48539011		2203	4300	6503	SO:0001583	missense	5213				fructose 6-phosphate metabolic process|glycolysis|muscle cell homeostasis	6-phosphofructokinase complex|apical plasma membrane	6-phosphofructokinase activity|ATP binding|identical protein binding|kinase binding|metal ion binding|protein C-terminus binding	g.chr12:48539011C>T	M26066	CCDS8760.1, CCDS53786.1	12q13.11	2014-06-13					2.7.1.11		8877	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 122"	610681	"phosphofructokinase, polypeptide X"	PFKX			Standard	NM_001166686		Approved	PFK-1, PPP1R122	uc001rrb.2	P08237		ENST00000312352.7:c.2111C>T	12.37:g.48539011C>T	ENSP00000309438:p.Thr704Ile					PFKM_ENST00000395233.2_Missense_Mutation_p.T673I|PFKM_ENST00000547587.1_Missense_Mutation_p.T704I|PFKM_ENST00000359794.5_Missense_Mutation_p.T704I|PFKM_ENST00000551804.1_Missense_Mutation_p.T673I|PFKM_ENST00000312352.7_Missense_Mutation_p.T704I	p.T775I	NM_001166686.1	NP_001160158.1	P08237	K6PF_HUMAN			24	2548	+			704					J3KNX3|Q16814|Q16815|Q6ZTT1	Missense_Mutation	SNP	ENST00000312352.7	37	c.2324C>T	CCDS8760.1	.	.	.	.	.	.	.	.	.	.	C	12.29	1.894217	0.33442	.	.	ENSG00000152556	ENST00000340802;ENST00000359794;ENST00000395233;ENST00000551804;ENST00000547587;ENST00000312352	T;T;T;T;T;T	0.80909	-1.43;-1.41;-1.42;-1.42;-1.41;-1.41	4.84	1.96	0.26148	Phosphofructokinase domain (1);	0.158016	0.56097	D	0.000034	D	0.83557	0.5280	M	0.73217	2.22	0.46356	D	0.999008	P;P;P	0.47762	0.723;0.786;0.9	P;B;B	0.50490	0.642;0.389;0.166	T	0.82530	-0.0411	10	0.36615	T	0.2	-7.3662	15.9792	0.80094	0.0:0.6205:0.3795:0.0	.	673;704;775	P08237-2;P08237;Q6ZTT1	.;K6PF_HUMAN;.	I	775;704;673;673;704;704	ENSP00000345771:T775I;ENSP00000352842:T704I;ENSP00000378656:T673I;ENSP00000448177:T673I;ENSP00000449426:T704I;ENSP00000309438:T704I	ENSP00000309438:T704I	T	+	2	0	PFKM	46825278	0.367000	0.25023	0.013000	0.15412	0.475000	0.33008	1.997000	0.40786	0.318000	0.23185	-0.165000	0.13383	ACT		0.542	PFKM-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406490.1	NM_000289		14	79	0	0	0	1	0	14	79					T	48539011	C	T	48539011	3	4	129	1	0	0	0	0	1	0	0	0	11765	565	20	3	2414	3	PFKM	12	48539011	Missense_Mutation	SNP	C	TCGA-EJ-A7NH-01A-12D-A33T-08		48539011	85312884	16	6679											
STAT2	6773	broad.mit.edu	37	chr12	56749984	56749984	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctctgggtcctggctgcaacGgccacactcatagttcagct	7	10	10	14	1	3	0	2	0	1	0	4	0	4	0	2	3	3	4	2	3	2	2			TCGA-EJ-A7NH-01A-12D-A33T-08	TCGA-EJ-A7NH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e69e7f2-9350-438e-b4c0-66d28d1681a3	ad22411c-0db0-4ad6-8c80-4134cc51e7ed	g.chr12:56749984G>T	ENST00000314128.4	-	3	240	c.217C>A	c.(217-219)Cgt>Agt	p.R73S	STAT2_ENST00000418572.2_Missense_Mutation_p.R73S|STAT2_ENST00000557235.1_Missense_Mutation_p.R73S			P52630	STAT2_HUMAN	signal transducer and activator of transcription 2, 113kDa	73					cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|JAK-STAT cascade (GO:0007259)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|transcription, DNA-templated (GO:0006351)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			NS(1)|endometrium(2)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|skin(3)	31						TGGCTGCAACGGCCACACTCA	0.532																																						ENST00000314128.4																			0				NS(1)|endometrium(2)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|skin(3)	31						c.(217-219)Cgt>Agt		signal transducer and activator of transcription 2, 113kDa							87	83	84					12																	56749984		2203	4300	6503	SO:0001583	missense	6773				interspecies interaction between organisms|JAK-STAT cascade|regulation of transcription from RNA polymerase II promoter|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	cytosol|nucleoplasm|plasma membrane	calcium ion binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr12:56749984G>T	BC051284	CCDS8917.1, CCDS55836.1	12q13.2	2013-02-14	2002-08-29			ENSG00000170581		"SH2 domain containing"	11363	protein-coding gene	gene with protein product		600556	"signal transducer and activator of transcription 2, 113kD"			7885841	Standard	NM_005419		Approved	STAT113	uc001slc.3	P52630		ENST00000314128.4:c.217C>A	12.37:g.56749984G>T	ENSP00000315768:p.Arg73Ser					STAT2_ENST00000418572.2_Missense_Mutation_p.R73S|STAT2_ENST00000557235.1_Missense_Mutation_p.R73S	p.R73S			P52630	STAT2_HUMAN			3	240	-			73					B4DLC7|G3V2M6|Q16430|Q16431|Q9UDL4	Missense_Mutation	SNP	ENST00000314128.4	37	c.217C>A	CCDS8917.1	.	.	.	.	.	.	.	.	.	.	G	20.5	4.006651	0.74932	.	.	ENSG00000170581	ENST00000314128;ENST00000557235;ENST00000553337;ENST00000418572	T;T;T	0.51325	0.71;0.71;0.71	5.08	0.893	0.19236	STAT transcription factor, protein interaction (4);	0.293378	0.38272	N	0.001748	T	0.56426	0.1984	M	0.81497	2.545	0.39698	D	0.971143	D;D;P	0.61080	0.989;0.981;0.71	P;P;B	0.61592	0.891;0.866;0.298	T	0.55289	-0.8164	10	0.39692	T	0.17	-2.1133	1.6366	0.02743	0.1829:0.1649:0.4823:0.1699	.	73;73;73	B4DLC8;G3V2M6;P52630	.;.;STAT2_HUMAN	S	73	ENSP00000315768:R73S;ENSP00000450751:R73S;ENSP00000387354:R73S	ENSP00000315768:R73S	R	-	1	0	STAT2	55036251	1.000000	0.71417	0.681000	0.30009	0.836000	0.47400	2.195000	0.42677	0.392000	0.25172	0.655000	0.94253	CGT		0.532	STAT2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410277.1	NM_005419		3	55	1	0	1	1	1	3	55					T	56749984	G	T	56749984	3	4	129	1	0	0	0	0	1	0	0	0	15264	1116	39	5	2426	5	STAT2	12	56749984	Missense_Mutation	SNP	G	TCGA-EJ-A7NH-01A-12D-A33T-08	8210973	56749984	77101911	17	6680											
CHD2	1106	broad.mit.edu	37	chr15	93524122	93524122	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tctcttcaaagaactggaagGggaggaatcagaacctcagg	14	7	12	8	0	4	2	3	0	1	2	5	5	4	5	1	5	2	0	1	5	5	1			TCGA-EJ-A7NH-01A-12D-A33T-08	TCGA-EJ-A7NH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e69e7f2-9350-438e-b4c0-66d28d1681a3	ad22411c-0db0-4ad6-8c80-4134cc51e7ed	g.chr15:93524122G>C	ENST00000394196.4	+	23	4022	c.2954G>C	c.(2953-2955)gGg>gCg	p.G985A	CHD2_ENST00000557381.1_Missense_Mutation_p.G985A	NM_001271.3	NP_001262.3	O14647	CHD2_HUMAN	chromodomain helicase DNA binding protein 2	985	Glu-rich.				cellular response to DNA damage stimulus (GO:0006974)|chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|hematopoietic stem cell differentiation (GO:0060218)|muscle organ development (GO:0007517)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|histone binding (GO:0042393)|poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	47	Lung NSC(78;0.00976)|all_lung(78;0.016)		BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)			GAACTGGAAGGGGAGGAATCA	0.363																																						ENST00000394196.4																			0				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	47						c.(2953-2955)gGg>gCg		chromodomain helicase DNA binding protein 2							45	49	48					15																	93524122		2193	4294	6487	SO:0001583	missense	1106				regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding	g.chr15:93524122G>C	AF006514	CCDS10374.2, CCDS45356.1	15q26	2008-07-18			ENSG00000173575	ENSG00000173575			1917	protein-coding gene	gene with protein product		602119				9326634	Standard	NM_001042572		Approved	FLJ38614, DKFZp547I1315, DKFZp781D1727, DKFZp686E01200	uc002bsp.3	O14647	OTTHUMG00000149845	ENST00000394196.4:c.2954G>C	15.37:g.93524122G>C	ENSP00000377747:p.Gly985Ala					CHD2_ENST00000557381.1_Missense_Mutation_p.G985A	p.G985A	NM_001271.3	NP_001262.3	O14647	CHD2_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)		23	4022	+	Lung NSC(78;0.00976)|all_lung(78;0.016)		985			Glu-rich.		C6G482|Q96IP5	Missense_Mutation	SNP	ENST00000394196.4	37	c.2954G>C	CCDS10374.2	.	.	.	.	.	.	.	.	.	.	G	22.1	4.244440	0.79912	.	.	ENSG00000173575	ENST00000394196;ENST00000557381	T;T	0.74737	-0.87;-0.87	5.53	5.53	0.82687	.	0.000000	0.34580	U	0.003849	T	0.79713	0.4493	L	0.49571	1.57	0.80722	D	1	B;D	0.54772	0.374;0.968	B;P	0.52881	0.118;0.712	T	0.81195	-0.1043	10	0.66056	D	0.02	-25.7917	19.4615	0.94920	0.0:0.0:1.0:0.0	.	985;985	O14647;O14647-2	CHD2_HUMAN;.	A	985	ENSP00000377747:G985A;ENSP00000451366:G985A	ENSP00000377747:G985A	G	+	2	0	CHD2	91325126	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.843000	0.86859	2.602000	0.87976	0.561000	0.74099	GGG		0.363	CHD2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000313528.3	NM_001271		5	49	0	0	0	1	0	5	49					C	93524122	G	C	93524122	3	2	129	1	0	0	0	0	1	0	0	0	3325	1232	43	5	3044	5	CHD2	15	93524122	Missense_Mutation	SNP	G	TCGA-EJ-A7NH-01A-12D-A33T-08		93524122	9007270	18	6681											
ADCY9	115	broad.mit.edu	37	chr16	4016824	4016824	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtctccgtggtagtggaggCggtagctgacttcaaattcg	7	11	14	9	4	2	1	1	1	1	0	4	2	2	2	1	4	1	3	1	4	3	4			TCGA-EJ-A7NH-01A-12D-A33T-08	TCGA-EJ-A7NH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e69e7f2-9350-438e-b4c0-66d28d1681a3	ad22411c-0db0-4ad6-8c80-4134cc51e7ed	g.chr16:4016824C>T	ENST00000294016.3	-	11	3552	c.3014G>A	c.(3013-3015)cGc>cAc	p.R1005H		NM_001116.3	NP_001107.2	O60503	ADCY9_HUMAN	adenylate cyclase 9	1005					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						GTAGTGGAGGCGGTAGCTGAC	0.592																																						ENST00000294016.3																			0				breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						c.(3013-3015)cGc>cAc		adenylate cyclase 9							103	99	100					16																	4016824		2197	4300	6497	SO:0001583	missense	115				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding	g.chr16:4016824C>T	AF036927	CCDS32382.1	16p13.3	2013-02-04				ENSG00000162104	4.6.1.1	"Adenylate cyclases"	240	protein-coding gene	gene with protein product		603302				9628827	Standard	NM_001116		Approved	AC9	uc002cvx.3	O60503		ENST00000294016.3:c.3014G>A	16.37:g.4016824C>T	ENSP00000294016:p.Arg1005His						p.R1005H	NM_001116.3	NP_001107.2	O60503	ADCY9_HUMAN			11	3552	-			1005					A7E2V5|A7E2X2|D3DUD1|O60273|Q4ZHT9|Q4ZIR5|Q9BWT4|Q9UGP2	Missense_Mutation	SNP	ENST00000294016.3	37	c.3014G>A	CCDS32382.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.979832	0.74360	.	.	ENSG00000162104	ENST00000294016	D	0.89617	-2.54	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	D	0.90463	0.7013	M	0.72353	2.195	0.80722	D	1	D	0.54601	0.967	P	0.45406	0.479	D	0.91675	0.5353	10	0.87932	D	0	.	19.8013	0.96509	0.0:1.0:0.0:0.0	.	1005	O60503	ADCY9_HUMAN	H	1005	ENSP00000294016:R1005H	ENSP00000294016:R1005H	R	-	2	0	ADCY9	3956825	1.000000	0.71417	0.999000	0.59377	0.936000	0.57629	7.776000	0.85560	2.761000	0.94854	0.591000	0.81541	CGC		0.592	ADCY9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438076.1			5	96	0	0	0	1	0	5	96					T	4016824	C	T	4016824	3	4	129	1	0	0	0	0	1	0	0	0	301	768	27	1	1051	1	ADCY9	16	4016824	Missense_Mutation	SNP	C	TCGA-EJ-A7NH-01A-12D-A33T-08		4016824	86337929	19	6682											
HYDIN	54768	broad.mit.edu	37	chr16	71218839	71218839	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gcacatcaaacgtgtttttgCcagtctctgctcggtggtca	7	13	10	11	2	3	0	2	0	1	0	5	0	3	0	1	2	3	3	1	2	1	2			TCGA-EJ-A7NH-01A-12D-A33T-08	TCGA-EJ-A7NH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e69e7f2-9350-438e-b4c0-66d28d1681a3	ad22411c-0db0-4ad6-8c80-4134cc51e7ed	g.chr16:71218839C>T	ENST00000393567.2	-	3	340	c.190G>A	c.(190-192)Gca>Aca	p.A64T	HYDIN_ENST00000321489.5_Missense_Mutation_p.A64T|HYDIN_ENST00000541601.1_Missense_Mutation_p.A81T|HYDIN_ENST00000538248.1_Missense_Mutation_p.A91T|HYDIN_ENST00000288168.10_Missense_Mutation_p.A81T|HYDIN_ENST00000448089.2_Missense_Mutation_p.A64T|HYDIN_ENST00000393550.2_Missense_Mutation_p.A64T|HYDIN_ENST00000448691.1_Missense_Mutation_p.A64T	NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	64					cilium assembly (GO:0042384)|cilium movement (GO:0003341)|epithelial cell development (GO:0002064)|trachea development (GO:0060438)|ventricular system development (GO:0021591)	cell projection (GO:0042995)				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				CGTGTTTTTGCCAGTCTCTGC	0.433																																						ENST00000393567.2																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43						c.(190-192)Gca>Aca		HYDIN, axonemal central pair apparatus protein							158	140	146					16																	71218839		2198	4300	6498	SO:0001583	missense	54768							g.chr16:71218839C>T	AK074472	CCDS10897.1, CCDS56004.1, CCDS56005.1, CCDS59269.1	16q22.2	2014-02-05	2012-01-06		ENSG00000157423	ENSG00000157423		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	19368	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 31"	610812	"hydrocephalus inducing", "hydrocephalus inducing homolog (mouse)"			12719380, 23022101	Standard	NM_001198542		Approved	DKFZp434D0513, KIAA1864, PPP1R31, CILD5	uc031qwy.1	Q4G0P3	OTTHUMG00000137584	ENST00000393567.2:c.190G>A	16.37:g.71218839C>T	ENSP00000377197:p.Ala64Thr					HYDIN_ENST00000321489.5_Missense_Mutation_p.A64T|HYDIN_ENST00000541601.1_Missense_Mutation_p.A81T|HYDIN_ENST00000448691.1_Missense_Mutation_p.A64T|HYDIN_ENST00000448089.2_Missense_Mutation_p.A64T|HYDIN_ENST00000538248.1_Missense_Mutation_p.A91T|HYDIN_ENST00000288168.10_Missense_Mutation_p.A81T|HYDIN_ENST00000393550.2_Missense_Mutation_p.A64T	p.A64T	NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN			3	340	-		Ovarian(137;0.0654)	64					A6NC70|A6NLZ0|B4DQY4|B4DRN4|F5H6V3|Q8N3H8|Q8N3P6|Q8TC08|Q96JG3|Q96SS4|Q9H5U3|Q9H9B8|Q9NTI0|Q9UBE5	Missense_Mutation	SNP	ENST00000393567.2	37	c.190G>A	CCDS59269.1	.	.	.	.	.	.	.	.	.	.	C	13.08	2.130162	0.37630	.	.	ENSG00000157423	ENST00000393567;ENST00000316490;ENST00000448089;ENST00000448691;ENST00000321489;ENST00000538248;ENST00000541601;ENST00000288168;ENST00000393550	T;T;T;T;T;T;T;T	0.15372	5.49;3.68;3.68;3.68;3.67;3.67;3.32;2.43	5.86	4.83	0.62350	.	0.000000	0.31020	U	0.008408	T	0.33904	0.0879	M	0.71581	2.175	0.39470	D	0.967715	P;P;P;P;D	0.57571	0.939;0.939;0.762;0.939;0.98	P;P;B;P;P	0.57283	0.7;0.57;0.441;0.7;0.817	T	0.07986	-1.0744	10	0.12430	T	0.62	.	17.7086	0.88315	0.131:0.869:0.0:0.0	.	91;81;81;64;64	B4DRN4;F5H6V3;F8WD03;Q4G0P3-5;F8WD23	.;.;.;.;.	T	64;64;64;64;64;91;81;81;64	ENSP00000377197:A64T;ENSP00000398544:A64T;ENSP00000394826:A64T;ENSP00000314736:A64T;ENSP00000444970:A91T;ENSP00000437341:A81T;ENSP00000288168:A81T;ENSP00000377181:A64T	ENSP00000288168:A81T	A	-	1	0	HYDIN	69776340	1.000000	0.71417	0.991000	0.47740	0.165000	0.22458	3.389000	0.52516	2.777000	0.95525	0.655000	0.94253	GCA		0.433	HYDIN-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000398624.3			4	82	0	0	0	1	0	4	82					T	71218839	C	T	71218839	3	4	129	1	0	0	0	0	1	0	0	0	7467	739	26	3	15520	3	HYDIN	16	71218839	Missense_Mutation	SNP	C	TCGA-EJ-A7NH-01A-12D-A33T-08	67202015	71218839	19135914	20	6683											
DLG4	1742	broad.mit.edu	37	chr17	7100327	7100327	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgtggggtagtcggtgcccaGgtagctgctgtgactgatct	5	12	16	8	1	1	2	0	2	1	0	2	2	1	2	1	4	3	4	1	4	2	2			TCGA-EJ-A7NH-01A-12D-A33T-08	TCGA-EJ-A7NH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e69e7f2-9350-438e-b4c0-66d28d1681a3	ad22411c-0db0-4ad6-8c80-4134cc51e7ed	g.chr17:7100327G>T	ENST00000399506.2	-	9	1023	c.832C>A	c.(832-834)Ctg>Atg	p.L278M	DLG4_ENST00000399510.2_Missense_Mutation_p.L321M|DLG4_ENST00000302955.6_Missense_Mutation_p.L275M			P78352	DLG4_HUMAN	discs, large homolog 4 (Drosophila)	278					alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor clustering (GO:0097113)|axon guidance (GO:0007411)|dendritic spine morphogenesis (GO:0060997)|establishment of protein localization (GO:0045184)|learning (GO:0007612)|locomotory exploration behavior (GO:0035641)|negative regulation of receptor internalization (GO:0002091)|nervous system development (GO:0007399)|neuromuscular process controlling balance (GO:0050885)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of synaptic transmission (GO:0050806)|protein complex assembly (GO:0006461)|protein localization to synapse (GO:0035418)|receptor localization to synapse (GO:0097120)|regulation of grooming behavior (GO:2000821)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|signal transduction (GO:0007165)|social behavior (GO:0035176)|synaptic transmission (GO:0007268)|synaptic vesicle maturation (GO:0016188)|vocalization behavior (GO:0071625)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|cerebellar mossy fiber (GO:0044300)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|dendrite cytoplasm (GO:0032839)|dendritic spine (GO:0043197)|endocytic vesicle membrane (GO:0030666)|endoplasmic reticulum (GO:0005783)|excitatory synapse (GO:0060076)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|juxtaparanode region of axon (GO:0044224)|neuron projection terminus (GO:0044306)|neuron spine (GO:0044309)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)|synaptic vesicle (GO:0008021)	acetylcholine receptor binding (GO:0033130)|beta-1 adrenergic receptor binding (GO:0031697)|D1 dopamine receptor binding (GO:0031748)|ionotropic glutamate receptor binding (GO:0035255)|P2Y1 nucleotide receptor binding (GO:0031812)|PDZ domain binding (GO:0030165)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|protein phosphatase binding (GO:0019903)|scaffold protein binding (GO:0097110)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)	18					Guanidine(DB00536)	TCGGTGCCCAGGTAGCTGCTG	0.607																																						ENST00000399510.2																			0				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)	18						c.(961-963)Ctg>Atg		discs, large homolog 4 (Drosophila)							24	27	26					17																	7100327		2119	4245	6364	SO:0001583	missense	1742				axon guidance|learning|protein complex assembly|protein localization to synapse|signal transduction|synaptic transmission	cell junction|cortical cytoskeleton|endocytic vesicle membrane|neuron spine|postsynaptic density|postsynaptic membrane|synaptosome	protein binding|protein C-terminus binding	g.chr17:7100327G>T	U83192	CCDS45599.1, CCDS45600.1	17p13.1	2008-12-15	2001-12-04		ENSG00000132535	ENSG00000132535			2903	protein-coding gene	gene with protein product		602887				9286702	Standard	NM_001128827		Approved	PSD-95, PSD95, SAP90, SAP-90	uc010cly.3	P78352	OTTHUMG00000134327	ENST00000399506.2:c.832C>A	17.37:g.7100327G>T	ENSP00000382425:p.Leu278Met					DLG4_ENST00000302955.6_Missense_Mutation_p.L275M|DLG4_ENST00000399506.2_Missense_Mutation_p.L278M	p.L321M	NM_001365.3	NP_001356.1	P78352	DLG4_HUMAN			11	1813	-			278			PDZ 3.		B7Z1S1|G5E939|Q92941|Q9UKK8	Missense_Mutation	SNP	ENST00000399506.2	37	c.961C>A		.	.	.	.	.	.	.	.	.	.	G	13.50	2.255148	0.39896	.	.	ENSG00000132535	ENST00000399506;ENST00000302955;ENST00000399510;ENST00000293813;ENST00000380912;ENST00000539674	T;T;T	0.14766	2.5;2.51;2.48	5.32	2.07	0.26955	PDZ-associated domain of NMDA receptors (1);	.	.	.	.	T	0.13628	0.0330	L	0.50333	1.59	0.38577	D	0.950091	B;B;B;B	0.24721	0.11;0.012;0.025;0.096	B;B;B;B	0.34093	0.175;0.08;0.023;0.041	T	0.07751	-1.0756	9	0.35671	T	0.21	.	5.8818	0.18860	0.1833:0.1605:0.6562:0.0	.	318;278;275;321	B9EGL1;P78352;G5E939;P78352-2	.;DLG4_HUMAN;.;.	M	278;275;321;321;218;321	ENSP00000382425:L278M;ENSP00000307471:L275M;ENSP00000382428:L321M	ENSP00000293813:L321M	L	-	1	2	DLG4	7041051	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.287000	0.33284	0.614000	0.30107	0.655000	0.94253	CTG		0.607	DLG4-002	KNOWN	non_canonical_TEC|not_organism_supported|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000259419.2	NM_001365		3	19	1	0	1	1	1	3	19					T	7100327	G	T	7100327	3	4	129	1	0	0	0	0	1	0	0	0	4557	991	35	5	1390	5	DLG4	17	7100327	Missense_Mutation	SNP	G	TCGA-EJ-A7NH-01A-12D-A33T-08		7100327	74094883	21	6684											
TP53	7157	broad.mit.edu	37	chr17	7578443	7578443	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	catgtgctgtgactgcttgtAgatggccatggcgcggacgc	6	10	15	10	3	0	2	0	1	0	1	0	3	0	3	1	3	2	3	1	3	1	2			TCGA-EJ-A7NH-01A-12D-A33T-08	TCGA-EJ-A7NH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e69e7f2-9350-438e-b4c0-66d28d1681a3	ad22411c-0db0-4ad6-8c80-4134cc51e7ed	g.chr17:7578443A>G	ENST00000269305.4	-	5	676	c.487T>C	c.(487-489)Tac>Cac	p.Y163H	TP53_ENST00000420246.2_Missense_Mutation_p.Y163H|TP53_ENST00000359597.4_Missense_Mutation_p.Y163H|TP53_ENST00000445888.2_Missense_Mutation_p.Y163H|TP53_ENST00000413465.2_Missense_Mutation_p.Y163H|TP53_ENST00000455263.2_Missense_Mutation_p.Y163H|TP53_ENST00000574684.1_5'Flank	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	163	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		Y -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17224074}.|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in a sporadic cancer; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:17224074}.|Y -> N (in sporadic cancers; somatic mutation).|Y -> S (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.Y163N(20)|p.Y163H(17)|p.0?(8)|p.Y163D(5)|p.I162_Y163>N(3)|p.Y163fs*7(2)|p.V157_C176del20(1)|p.Y163fs*1(1)|p.Y163_Q165delYKQ(1)|p.P151_V173del23(1)|p.S149fs*72(1)|p.I30_Y31>N(1)|p.I162_Y163delIY(1)|p.I69_Y70>N(1)|p.Y70N(1)|p.A161fs*7(1)|p.Y31N(1)|p.Y163fs*14(1)|p.A159_Q167delAMAIYKQSQ(1)|p.Y163fs*18(1)|p.Y70D(1)|p.Y31D(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GACTGCTTGTAGATGGCCATG	0.622		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"Mis, N, F"	tumor protein p53			"L, E, M, O"		"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"	"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"		71	Substitution - Missense(46)|Whole gene deletion(8)|Deletion - Frameshift(6)|Deletion - In frame(5)|Complex - deletion inframe(5)|Insertion - Frameshift(1)	p.Y163N(20)|p.Y163H(17)|p.0?(8)|p.Y163D(5)|p.I162_Y163>N(3)|p.Y163fs*7(2)|p.V157_C176del20(1)|p.Y163fs*1(1)|p.Y163_Q165delYKQ(1)|p.P151_V173del23(1)|p.S149fs*72(1)|p.I30_Y31>N(1)|p.I162_Y163delIY(1)|p.I69_Y70>N(1)|p.Y70N(1)|p.A161fs*7(1)|p.Y31N(1)|p.Y163fs*14(1)|p.A159_Q167delAMAIYKQSQ(1)|p.Y163fs*18(1)|p.Y70D(1)|p.Y31D(1)	breast(14)|lung(12)|liver(8)|skin(6)|large_intestine(4)|haematopoietic_and_lymphoid_tissue(4)|oesophagus(4)|bone(4)|upper_aerodigestive_tract(3)|central_nervous_system(3)|ovary(3)|stomach(2)|adrenal_gland(1)|biliary_tract(1)|prostate(1)|pancreas(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185						c.(487-489)Tac>Cac	Other conserved DNA damage response genes	tumor protein p53							53	54	53					17																	7578443		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578443A>G	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"Li-Fraumeni syndrome"	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.487T>C	17.37:g.7578443A>G	ENSP00000269305:p.Tyr163His	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_ENST00000413465.2_Missense_Mutation_p.Y163H|TP53_ENST00000269305.4_Missense_Mutation_p.Y163H|TP53_ENST00000359597.4_Missense_Mutation_p.Y163H|TP53_ENST00000455263.2_Missense_Mutation_p.Y163H|TP53_ENST00000445888.2_Missense_Mutation_p.Y163H	p.Y163H	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	5	619	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	163		Y -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in a sporadic cancer; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation).|Y -> N (in sporadic cancers; somatic mutation).|Y -> S (in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.487T>C	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	A	15.72	2.916592	0.52546	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315;ENST00000508793	D;D;D;D;D;D;D;D;D	0.99869	-7.33;-7.33;-7.33;-7.33;-7.33;-7.33;-7.33;-7.33;-7.33	5.59	4.52	0.55395	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.062225	0.64402	D	0.000003	D	0.99843	0.9928	M	0.89478	3.035	0.53005	D	0.999963	D;D;D;D;D;D;D	0.89917	0.997;1.0;0.998;1.0;1.0;1.0;0.999	D;D;D;D;D;D;D	0.91635	0.996;0.999;0.983;0.999;0.999;0.999;0.994	D	0.97202	0.9865	10	0.87932	D	0	-16.6607	9.9777	0.41795	0.9196:0.0:0.0804:0.0	.	124;163;163;70;163;163;163	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	H	163;163;163;163;163;163;152;70;31;70;31;163	ENSP00000410739:Y163H;ENSP00000352610:Y163H;ENSP00000269305:Y163H;ENSP00000398846:Y163H;ENSP00000391127:Y163H;ENSP00000391478:Y163H;ENSP00000425104:Y31H;ENSP00000423862:Y70H;ENSP00000424104:Y163H	ENSP00000269305:Y163H	Y	-	1	0	TP53	7519168	1.000000	0.71417	0.998000	0.56505	0.047000	0.14425	9.287000	0.95975	1.067000	0.40740	-0.256000	0.11100	TAC		0.622	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		5	54	0	0	0	1	0	5	54					G	7578443	A	G	7578443	3	3	129	1	0	0	0	0	1	0	0	0	16378	420	15	4	811	4	TP53	17	7578443	Missense_Mutation	SNP	A	TCGA-EJ-A7NH-01A-12D-A33T-08	478116	7578443	73616767	22	6685											
CHAF1A	10036	broad.mit.edu	37	chr19	4431958	4431958	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	taaaccacaaggagtgtgccGaccctgagaaccataaggtc	14	6	10	11	1	0	1	0	1	0	1	1	4	0	2	4	2	3	0	4	2	5	2			TCGA-EJ-A7NH-01A-12D-A33T-08	TCGA-EJ-A7NH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e69e7f2-9350-438e-b4c0-66d28d1681a3	ad22411c-0db0-4ad6-8c80-4134cc51e7ed	g.chr19:4431958G>A	ENST00000301280.5	+	12	2058	c.1957G>A	c.(1957-1959)Gac>Aac	p.D653N	CTB-50L17.5_ENST00000590159.1_RNA|CHAF1A_ENST00000587368.1_3'UTR	NM_005483.2	NP_005474	Q13111	CAF1A_HUMAN	chromatin assembly factor 1, subunit A (p150)	653	Necessary for homodimerization and competence for chromatin assembly.				cell cycle (GO:0007049)|chromatin assembly (GO:0031497)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication-dependent nucleosome assembly (GO:0006335)|protein complex assembly (GO:0006461)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	CAF-1 complex (GO:0033186)|nuclear chromatin (GO:0000790)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|identical protein binding (GO:0042802)|unfolded protein binding (GO:0051082)			breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	27		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18)		GGAGTGTGCCGACCCTGAGAA	0.557								Chromatin Structure																														ENST00000301280.5																			0				breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	27						c.(1957-1959)Gac>Aac	Chromatin Structure	chromatin assembly factor 1, subunit A (p150)							76	75	76					19																	4431958		2203	4300	6503	SO:0001583	missense	10036				cell cycle|DNA repair|DNA replication|DNA replication-dependent nucleosome assembly|protein complex assembly|regulation of transcription, DNA-dependent|transcription, DNA-dependent	CAF-1 complex|WINAC complex	chromatin binding|chromo shadow domain binding|unfolded protein binding	g.chr19:4431958G>A	U20979	CCDS32875.1	19p13.3	2008-07-16				ENSG00000167670			1910	protein-coding gene	gene with protein product	"chromatin assembly factor I (150 kDa)"	601246				7600578	Standard	NM_005483		Approved	CAF1P150, CAF1B, CAF-1, CAF1, P150, MGC71229	uc002mal.3	Q13111		ENST00000301280.5:c.1957G>A	19.37:g.4431958G>A	ENSP00000301280:p.Asp653Asn					CHAF1A_ENST00000587368.1_3'UTR	p.D653N	NM_005483.2	NP_005474.2	Q13111	CAF1A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18)	12	2058	+		Hepatocellular(1079;0.137)	653			Necessary for homodimerization and competence for chromatin assembly.		Q6NXG5|Q7Z7K3|Q9UJY8	Missense_Mutation	SNP	ENST00000301280.5	37	c.1957G>A	CCDS32875.1	.	.	.	.	.	.	.	.	.	.	G	17.74	3.463304	0.63513	.	.	ENSG00000167670	ENST00000344143;ENST00000535117;ENST00000301280	T	0.18174	2.23	4.81	4.81	0.61882	.	.	.	.	.	T	0.42653	0.1212	M	0.71581	2.175	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	T	0.35450	-0.9788	9	0.87932	D	0	-49.9179	17.3854	0.87414	0.0:0.0:1.0:0.0	.	653	Q13111	CAF1A_HUMAN	N	653	ENSP00000301280:D653N	ENSP00000301280:D653N	D	+	1	0	CHAF1A	4382958	1.000000	0.71417	0.877000	0.34402	0.168000	0.22595	7.575000	0.82447	2.649000	0.89929	0.561000	0.74099	GAC		0.557	CHAF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458310.2	NM_005483		11	60	0	0	0	1	0	11	60					A	4431958	G	A	4431958	3	1	129	1	0	0	0	0	1	0	0	0	3311	1058	37	2	2003	2	CHAF1A	19	4431958	Missense_Mutation	SNP	G	TCGA-EJ-A7NH-01A-12D-A33T-08		4431958	54697025	23	6686											
EIF3L	51386	broad.mit.edu	37	chr22	38254723	38254723	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttatacaaagaattatactaCaggcacatatatgccaaagt	18	11	5	7	0	0	1	0	0	0	1	0	1	0	1	1	1	4	1	1	1	10	7			TCGA-EJ-A7NH-01A-12D-A33T-08	TCGA-EJ-A7NH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e69e7f2-9350-438e-b4c0-66d28d1681a3	ad22411c-0db0-4ad6-8c80-4134cc51e7ed	g.chr22:38254723C>G	ENST00000412331.2	+	5	993	c.411C>G	c.(409-411)taC>taG	p.Y137*	EIF3L_ENST00000476955.1_Intron|EIF3L_ENST00000381683.6_Nonsense_Mutation_p.Y137*|EIF3L_ENST00000406934.1_Nonsense_Mutation_p.Y39*	NM_016091.3	NP_057175.1			eukaryotic translation initiation factor 3, subunit L											kidney(2)|large_intestine(3)|lung(4)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						AATTATACTACAGGCACATAT	0.368																																						ENST00000412331.2																			0				kidney(2)|large_intestine(3)|lung(4)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						c.(409-411)taC>taG		eukaryotic translation initiation factor 3, subunit L							195	200	199					22																	38254723		2203	4300	6503	SO:0001587	stop_gained	51386					eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity	g.chr22:38254723C>G	AF083243	CCDS13960.1, CCDS56230.1	22q	2012-12-20	2009-01-07	2009-01-07	ENSG00000100129	ENSG00000100129			18138	protein-coding gene	gene with protein product			"eukaryotic translation initiation factor 3, subunit 6 interacting protein", "eukaryotic translation initiation factor 3, subunit E interacting protein"	EIF3S6IP, EIF3EIP		11042152, 11590142	Standard	NM_016091		Approved	HSPC021, HSPC025, EIF3S11	uc003auf.3	Q9Y262	OTTHUMG00000150671	ENST00000412331.2:c.411C>G	22.37:g.38254723C>G	ENSP00000416892:p.Tyr137*					EIF3L_ENST00000406934.1_Nonsense_Mutation_p.Y39*|EIF3L_ENST00000476955.1_Intron|EIF3L_ENST00000381683.6_Nonsense_Mutation_p.Y137*	p.Y137*	NM_016091.3	NP_057175.1	Q9Y262	EIF3L_HUMAN			5	993	+			137						Nonsense_Mutation	SNP	ENST00000412331.2	37	c.411C>G	CCDS13960.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	23.5|23.5	4.425518|4.425518	0.83667|0.83667	.|.	.|.	ENSG00000100129|ENSG00000100129	ENST00000262832|ENST00000412331;ENST00000425539;ENST00000414316;ENST00000381683;ENST00000406934;ENST00000451427	.|.	.|.	.|.	4.81|4.81	1.55|1.55	0.23275|0.23275	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|.	0.12817|.	0.0311|.	.|.	.|.	.|.	0.20489|0.20489	N|N	0.999892|0.999892	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.33394|.	-0.9870|.	5|.	0.30854|0.02654	T|T	0.27|1	-19.0445|-19.0445	9.4205|9.4205	0.38548|0.38548	0.0:0.6446:0.0:0.3554|0.0:0.6446:0.0:0.3554	.|.	.|.	.|.	.|.	E|X	136|137;180;154;137;39;113	.|.	ENSP00000262832:Q136E|ENSP00000371099:Y137X	Q|Y	+|+	1|3	0|2	EIF3L|EIF3L	36584669|36584669	0.996000|0.996000	0.38824|0.38824	1.000000|1.000000	0.80357|0.80357	0.990000|0.990000	0.78478|0.78478	0.480000|0.480000	0.22244|0.22244	0.567000|0.567000	0.29293|0.29293	0.467000|0.467000	0.42956|0.42956	CAG|TAC		0.368	EIF3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319551.2	NM_016091		35	167	0	0	0	1	0	35	167					G	38254723	C	G	38254723	4	3	129	1	0	0	0	0	0	1	0	0	5022	489	17	5	429	5	EIF3L	22	38254723	Nonsense_Mutation	SNP	C	TCGA-EJ-A7NH-01A-12D-A33T-08		38254723	13049843	24	6687											
ASB9	140462	broad.mit.edu	37	chrX	15270503	15270503	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gcattaaacagtggagtgtgCcagtctgctgtcacaccatt	10	11	10	10	0	2	0	1	0	1	0	2	1	2	1	2	1	3	2	2	1	2	2			TCGA-EJ-A7NH-01A-12D-A33T-08	TCGA-EJ-A7NH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e69e7f2-9350-438e-b4c0-66d28d1681a3	ad22411c-0db0-4ad6-8c80-4134cc51e7ed	g.chrX:15270503C>T	ENST00000380488.4	-	4	579	c.306G>A	c.(304-306)tgG>tgA	p.W102*	ASB9_ENST00000380483.3_Nonsense_Mutation_p.W102*|ASB9_ENST00000380485.3_Nonsense_Mutation_p.W102*|ASB9_ENST00000473862.1_Intron|ASB9_ENST00000546332.1_Nonsense_Mutation_p.W102*	NM_001031739.2	NP_001026909.1	Q96DX5	ASB9_HUMAN	ankyrin repeat and SOCS box containing 9	102					intracellular signal transduction (GO:0035556)|positive regulation of protein catabolic process (GO:0045732)|protein ubiquitination (GO:0016567)	mitochondrion (GO:0005739)				breast(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(10)	15	Hepatocellular(33;0.183)					GTGGAGTGTGCCAGTCTGCTG	0.507																																						ENST00000546332.1																			0				breast(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(10)	15						c.(304-306)tgG>tgA		ankyrin repeat and SOCS box containing 9							62	54	57					X																	15270503		2203	4300	6503	SO:0001587	stop_gained	140462				intracellular signal transduction			g.chrX:15270503C>T	AK000643	CCDS14163.1, CCDS35208.1, CCDS55372.1	Xp22.2	2013-01-10	2011-01-25		ENSG00000102048	ENSG00000102048		"Ankyrin repeat domain containing"	17184	protein-coding gene	gene with protein product		300890	"ankyrin repeat and SOCS box-containing 9"			12076535	Standard	NM_001031739		Approved	DKFZP564L0862, MGC4954, FLJ20636	uc004cwl.3	Q96DX5	OTTHUMG00000021172	ENST00000380488.4:c.306G>A	X.37:g.15270503C>T	ENSP00000369855:p.Trp102*					ASB9_ENST00000380483.3_Nonsense_Mutation_p.W102*|ASB9_ENST00000380488.4_Nonsense_Mutation_p.W102*|ASB9_ENST00000473862.1_Intron|ASB9_ENST00000380485.3_Nonsense_Mutation_p.W102*	p.W102*	NM_001168531.1	NP_001162003.1	Q96DX5	ASB9_HUMAN			5	789	-	Hepatocellular(33;0.183)		102					A8K8A5|Q9BVF5|Q9NWS5|Q9Y4T3	Nonsense_Mutation	SNP	ENST00000380488.4	37	c.306G>A	CCDS35208.1	.	.	.	.	.	.	.	.	.	.	C	35	5.509751	0.96386	.	.	ENSG00000102048	ENST00000380483;ENST00000380485;ENST00000380488;ENST00000546332	.	.	.	5.69	5.69	0.88448	.	0.059585	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.37606	T	0.19	-17.505	17.6333	0.88115	0.0:1.0:0.0:0.0	.	.	.	.	X	102	.	ENSP00000369850:W102X	W	-	3	0	ASB9	15180424	1.000000	0.71417	1.000000	0.80357	0.506000	0.33950	3.645000	0.54389	2.380000	0.81148	0.508000	0.49915	TGG		0.507	ASB9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055844.1			3	39	0	0	0	1	0	3	39					T	15270503	C	T	15270503	4	4	129	1	0	0	0	0	0	1	0	0	1030	740	26	3	623	3	ASB9	23	15270503	Nonsense_Mutation	SNP	C	TCGA-EJ-A7NH-01A-12D-A33T-08		15270503	140000057	25	6688											
KCNH8	131096	broad.mit.edu	37	chr3	19492678	19492678	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctttccagatgaactgcgttCtgacatcactatgcacttga	10	13	7	11	1	2	4	1	3	1	1	3	4	3	4	1	0	3	2	1	0	2	4			TCGA-EJ-A7NJ-01A-22D-A34U-08	TCGA-EJ-A7NJ-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eafb824c-0e84-48ec-886f-8c499ac06f94	0fe4914b-4eed-4620-bd08-4a854ee94df6	g.chr3:19492678C>G	ENST00000328405.2	+	10	1873	c.1607C>G	c.(1606-1608)tCt>tGt	p.S536C	KCNH8_ENST00000537696.1_3'UTR	NM_144633.2	NP_653234.2	Q96L42	KCNH8_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 8	536					potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(3)|lung(37)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	77						GAACTGCGTTCTGACATCACT	0.438																																					NSCLC(124;1625 1765 8018 24930 42026)	ENST00000328405.2																			0				NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(3)|lung(37)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	77						c.(1606-1608)tCt>tGt		potassium voltage-gated channel, subfamily H (eag-related), member 8							153	155	154					3																	19492678		2203	4300	6503	SO:0001583	missense	131096					integral to membrane	two-component sensor activity	g.chr3:19492678C>G	AY053503	CCDS2632.1	3p24.3	2012-07-05			ENSG00000183960	ENSG00000183960		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	18864	protein-coding gene	gene with protein product		608260				16382104	Standard	NM_144633		Approved	Kv12.1, elk3	uc003cbk.1	Q96L42	OTTHUMG00000129891	ENST00000328405.2:c.1607C>G	3.37:g.19492678C>G	ENSP00000328813:p.Ser536Cys					KCNH8_ENST00000537696.1_3'UTR	p.S536C	NM_144633.2	NP_653234.2	Q96L42	KCNH8_HUMAN			10	1873	+			536					B7Z2I7|Q59GQ6	Missense_Mutation	SNP	ENST00000328405.2	37	c.1607C>G	CCDS2632.1	.	.	.	.	.	.	.	.	.	.	C	26.7	4.766346	0.90020	.	.	ENSG00000183960	ENST00000328405	D	0.97041	-4.22	5.52	5.52	0.82312	Cyclic nucleotide-binding-like (1);	0.000000	0.31747	U	0.007124	D	0.96586	0.8886	N	0.19112	0.55	0.80722	D	1	D	0.69078	0.997	D	0.65987	0.94	D	0.95943	0.8948	9	.	.	.	.	19.4475	0.94854	0.0:1.0:0.0:0.0	.	536	Q96L42	KCNH8_HUMAN	C	536	ENSP00000328813:S536C	.	S	+	2	0	KCNH8	19467682	1.000000	0.71417	1.000000	0.80357	0.927000	0.56198	7.818000	0.86416	2.609000	0.88269	0.460000	0.39030	TCT		0.438	KCNH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252139.2	NM_144633		7	152	0	0	0	1	0	7	152					G	19492678	C	G	19492678	3	3	130	1	0	0	0	0	1	0	0	0	8038	913	32	5	1645	5	KCNH8	3	19492678	Missense_Mutation	SNP	C	TCGA-EJ-A7NJ-01A-22D-A34U-08		19492678	178529752	1	6689											
BCL6	604	broad.mit.edu	37	chr3	187446240	187446240	+	Frame_Shift_Del	DEL	G	G	-																															ggcacatctctgcatgctgtGgggactgagagccgcaggac																										TCGA-EJ-A7NJ-01A-22D-A34U-08	TCGA-EJ-A7NJ-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eafb824c-0e84-48ec-886f-8c499ac06f94	0fe4914b-4eed-4620-bd08-4a854ee94df6	g.chr3:187446240delG	ENST00000406870.2	-	6	1814	c.1448delC	c.(1447-1449)ccafs	p.P483fs	RP11-211G3.3_ENST00000437407.1_Intron|RP11-211G3.3_ENST00000449623.1_Intron|BCL6_ENST00000232014.4_Frame_Shift_Del_p.P483fs|BCL6_ENST00000450123.2_Frame_Shift_Del_p.P483fs	NM_001706.4	NP_001697.2	P41182	BCL6_HUMAN	B-cell CLL/lymphoma 6	483					actin cytoskeleton organization (GO:0030036)|B cell differentiation (GO:0030183)|cell morphogenesis (GO:0000902)|cellular response to DNA damage stimulus (GO:0006974)|erythrocyte development (GO:0048821)|germinal center formation (GO:0002467)|inflammatory response (GO:0006954)|negative regulation of B cell apoptotic process (GO:0002903)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of isotype switching to IgE isotypes (GO:0048294)|negative regulation of mast cell cytokine production (GO:0032764)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of T-helper 2 cell differentiation (GO:0045629)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of type 2 immune response (GO:0002829)|positive regulation of apoptotic process (GO:0043065)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cellular component movement (GO:0051272)|protein import into nucleus, translocation (GO:0000060)|regulation of germinal center formation (GO:0002634)|regulation of immune response (GO:0050776)|regulation of inflammatory response (GO:0050727)|regulation of memory T cell differentiation (GO:0043380)|regulation of Rho GTPase activity (GO:0032319)|Rho protein signal transduction (GO:0007266)|spermatogenesis (GO:0007283)|type 2 immune response (GO:0042092)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|metal ion binding (GO:0046872)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(9)|lung(10)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	40	all_cancers(143;9.45e-12)|Ovarian(172;0.0418)		OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.0141)		TGCATGCTGTGGGGACTGAGA	0.617			"T, Mis"	"IG loci, ZNFN1A1, LCP1, PIM1, TFRC, CIITA, NACA, HSPCB, HSPCA, HIST1H4I, IL21R,  POU2AF1, ARHH, EIF4A2, SFRS3"	"NHL, CLL"																																	ENST00000406870.2				Dom	yes		3	3q27	604	"T, Mis"	B-cell CLL/lymphoma 6			L	"IG loci, ZNFN1A1, LCP1, PIM1, TFRC, CIITA, NACA, HSPCB, HSPCA, HIST1H4I, IL21R,  POU2AF1, ARHH, EIF4A2, SFRS3"		"NHL, CLL"		0				central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(9)|lung(10)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	40						c.(1447-1449)cafs		B-cell CLL/lymphoma 6							72	61	64					3																	187446240		2203	4300	6503	SO:0001589	frameshift_variant	604				negative regulation of B cell apoptosis|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|protein import into nucleus, translocation|regulation of germinal center formation|response to DNA damage stimulus	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr3:187446240delG		CCDS3289.1, CCDS46975.1	3q27	2013-01-09	2008-08-01		ENSG00000113916	ENSG00000113916		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	1001	protein-coding gene	gene with protein product		109565	"zinc finger protein 51"	ZNF51			Standard	NM_001130845		Approved	ZBTB27, LAZ3, BCL5, BCL6A	uc003frq.2	P41182	OTTHUMG00000156441	ENST00000406870.2:c.1448delC	3.37:g.187446240delG	ENSP00000384371:p.Pro483fs					RP11-211G3.3_ENST00000449623.1_Intron|RP11-211G3.3_ENST00000437407.1_Intron|BCL6_ENST00000232014.4_Frame_Shift_Del_p.P483fs|BCL6_ENST00000450123.2_Frame_Shift_Del_p.P483fs	p.P483fs	NM_001706.4	NP_001697.2	P41182	BCL6_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.0141)	6	1814	-	all_cancers(143;9.45e-12)|Ovarian(172;0.0418)		483					A7E241|B8PSA7|D3DNV5	Frame_Shift_Del	DEL	ENST00000406870.2	37	c.1448delC	CCDS3289.1																																																																																				0.617	BCL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344202.1	NM_138931		2	4						2	4	---	---	---	---	-	187446240	G	-	187446240	7	5	130	1	0	1	0	1	0	0	0	0	1376	1348	47	0	692	0	BCL6	3	187446240	Frame_Shift_Del	DEL	G	TCGA-EJ-A7NJ-01A-22D-A34U-08	167953562	187446240	10576190	2	6690											
PRDM9	56979	broad.mit.edu	37	chr5	23526964	23526964	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agggagtgtgggcggggcttTagctggcagtcagtcctcct	5	10	17	9	1	1	0	1	0	0	0	3	1	3	1	2	5	1	3	2	5	1	2			TCGA-EJ-A7NJ-01A-22D-A34U-08	TCGA-EJ-A7NJ-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eafb824c-0e84-48ec-886f-8c499ac06f94	0fe4914b-4eed-4620-bd08-4a854ee94df6	g.chr5:23526964T>C	ENST00000296682.3	+	11	1949	c.1767T>C	c.(1765-1767)ttT>ttC	p.F589F		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	589					meiotic gene conversion (GO:0006311)|positive regulation of meiosis I (GO:0060903)|positive regulation of reciprocal meiotic recombination (GO:0010845)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)	histone methyltransferase activity (H3-K4 specific) (GO:0042800)|metal ion binding (GO:0046872)|recombination hotspot binding (GO:0010844)|sequence-specific DNA binding (GO:0043565)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						GGCGGGGCTTTAGCTGGCAGT	0.602										HNSCC(3;0.000094)																												ENST00000296682.3																			0				NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						c.(1765-1767)ttT>ttC		PR domain containing 9							40	46	44					5																	23526964		2150	4244	6394	SO:0001819	synonymous_variant	56979				meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding	g.chr5:23526964T>C	AF275816	CCDS43307.1	5p14.2	2014-06-03			ENSG00000164256	ENSG00000164256		"-", "Zinc fingers, C2H2-type"	13994	protein-coding gene	gene with protein product	"PR-domain containing protein 9"	609760	"minisatellite binding protein 3, 115kDa", "minisatellite binding protein 3 (115kD)"	MSBP3		10668202, 2062643, 24634223	Standard	NM_020227		Approved	PFM6, ZNF899	uc003jgo.3	Q9NQV7	OTTHUMG00000161918	ENST00000296682.3:c.1767T>C	5.37:g.23526964T>C		HNSCC(3;0.000094)					p.F589F	NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN			11	1949	+			589					B4DX22|Q27Q50	Silent	SNP	ENST00000296682.3	37	c.1767T>C	CCDS43307.1																																																																																				0.602	PRDM9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366375.1	NM_020227		4	93	0	0	0	1	0	4	93					C	23526964	T	C	23526964	2	2	130	1	0	0	0	0	0	0	0	1	12463	1751	61	4		4	PRDM9	5	23526964	Silent	SNP	T	TCGA-EJ-A7NJ-01A-22D-A34U-08		23526964	157388296	3	6691											
GPR98	84059	broad.mit.edu	37	chr5	89938713	89938713	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ccacatcatccgatcaagggGgtcccttgttaagcagtttc	9	11	9	12	1	2	0	2	0	0	0	5	1	4	0	3	2	1	3	3	2	2	3			TCGA-EJ-A7NJ-01A-22D-A34U-08	TCGA-EJ-A7NJ-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eafb824c-0e84-48ec-886f-8c499ac06f94	0fe4914b-4eed-4620-bd08-4a854ee94df6	g.chr5:89938713G>A	ENST00000405460.2	+	13	2504	c.2408G>A	c.(2407-2409)gGg>gAg	p.G803E		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	803	Calx-beta 6. {ECO:0000255}.				detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		CGATCAAGGGGGTCCCTTGTT	0.408																																						ENST00000405460.2																			0				NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269						c.(2407-2409)gGg>gAg		G protein-coupled receptor 98							128	123	125					5																	89938713		1836	4087	5923	SO:0001583	missense	84059				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr5:89938713G>A	AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"-", "GPCR / Class B : Orphans"	17416	protein-coding gene	gene with protein product		602851	"monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.2408G>A	5.37:g.89938713G>A	ENSP00000384582:p.Gly803Glu						p.G803E	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)	13	2504	+		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)	803					O75171|Q8TF58|Q9H0X5|Q9UL61	Missense_Mutation	SNP	ENST00000405460.2	37	c.2408G>A	CCDS47246.1	.	.	.	.	.	.	.	.	.	.	G	28.1	4.894781	0.91962	.	.	ENSG00000164199	ENST00000405460;ENST00000296619;ENST00000399043	T	0.32272	1.46	5.16	5.16	0.70880	Na-Ca exchanger/integrin-beta4 (1);	0.047204	0.85682	N	0.000000	T	0.59404	0.2191	M	0.79475	2.455	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.64736	-0.6337	10	0.87932	D	0	.	18.6542	0.91445	0.0:0.0:1.0:0.0	.	803	Q8WXG9	GPR98_HUMAN	E	803	ENSP00000384582:G803E	ENSP00000296619:G803E	G	+	2	0	GPR98	89974469	1.000000	0.71417	0.788000	0.31933	0.832000	0.47134	9.119000	0.94362	2.401000	0.81631	0.591000	0.81541	GGG		0.408	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2	NM_032119		5	99	0	0	0	1	0	5	99					A	89938713	G	A	89938713	3	1	130	1	0	0	0	0	1	0	0	0	6721	1232	43	3	2458	3	GPR98	5	89938713	Missense_Mutation	SNP	G	TCGA-EJ-A7NJ-01A-22D-A34U-08	66411749	89938713	90976547	4	6692											
CUL9	23113	broad.mit.edu	37	chr6	43173002	43173002	+	Splice_Site	DEL	T	T	-																															ccctttcccctgcccccagaTgagtgagcagtttgccaggt																										TCGA-EJ-A7NJ-01A-22D-A34U-08	TCGA-EJ-A7NJ-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eafb824c-0e84-48ec-886f-8c499ac06f94	0fe4914b-4eed-4620-bd08-4a854ee94df6	g.chr6:43173002delT	ENST00000252050.4	+	24	4718	c.4634delT	c.(4633-4635)atg>ag	p.M1545fs	CUL9_ENST00000354495.3_Splice_Site_p.M1435fs|CUL9_ENST00000372647.2_Splice_Site_p.M1545fs	NM_015089.2	NP_055904.1	Q8IWT3	CUL9_HUMAN	cullin 9	1545					microtubule cytoskeleton organization (GO:0000226)|protein ubiquitination (GO:0016567)|regulation of mitosis (GO:0007088)|ubiquitin-dependent protein catabolic process (GO:0006511)	cullin-RING ubiquitin ligase complex (GO:0031461)|cytoplasm (GO:0005737)	ATP binding (GO:0005524)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						TGCCCCCAGATGAGTGAGCAG	0.572																																						ENST00000252050.4																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						c.e24-1		cullin 9							167	168	168					6																	43173002		2203	4300	6503	SO:0001630	splice_region_variant	23113				ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex|cytoplasm	ATP binding|ubiquitin protein ligase binding|zinc ion binding	g.chr6:43173002delT	AB014608	CCDS4890.1	6p21.1	2011-05-24			ENSG00000112659	ENSG00000112659			15982	protein-coding gene	gene with protein product	"parkin-like cytoplasmic p53 binding protein", "p53-associated parkin-like cytoplasmic protein"	607489				17332328, 10521492, 12526791	Standard	NM_015089		Approved	H7AP1, KIAA0708, PARC	uc003ouk.3	Q8IWT3	OTTHUMG00000014723	ENST00000252050.4:c.4633-1T>-	6.37:g.43173002delT						CUL9_ENST00000372647.2_Splice_Site_p.M1545_splice|CUL9_ENST00000354495.3_Splice_Site_p.M1435_splice	p.M1545_splice	NM_015089.2	NP_055904.1	Q8IWT3	CUL9_HUMAN			24	4718	+			1545					O75188|Q5TCY3|Q68CP2|Q68D92|Q8N3W9|Q9BU56	Splice_Site	DEL	ENST00000252050.4	37	c.4632_splice	CCDS4890.1																																																																																				0.572	CUL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040582.2	NM_015089	Frame_Shift_Del	16	238						16	238	---	---	---	---	-	43173002	T	-	43173002	8	5	130	1	0	1	0	1	0	0	1	0	4061	1478	51	0	4724	0	CUL9	6	43173002	Splice_Site	DEL	T	TCGA-EJ-A7NJ-01A-22D-A34U-08		43173002	127942065	5	6693											
HRAS	3265	broad.mit.edu	37	chr11	533874	533874	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcatggcgctgtactcctccTggccggcggtatccaggatg	5	9	14	13	3	0	0	0	0	0	0	3	1	3	1	4	5	1	4	4	5	2	2	rs121913233		TCGA-EJ-A7NJ-01A-22D-A34U-08	TCGA-EJ-A7NJ-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eafb824c-0e84-48ec-886f-8c499ac06f94	0fe4914b-4eed-4620-bd08-4a854ee94df6	g.chr11:533874T>C	ENST00000451590.1	-	3	369	c.182A>G	c.(181-183)cAg>cGg	p.Q61R	HRAS_ENST00000397594.1_Missense_Mutation_p.Q61R|HRAS_ENST00000397596.2_Missense_Mutation_p.Q61R|HRAS_ENST00000417302.1_Missense_Mutation_p.Q61R|HRAS_ENST00000468682.2_5'UTR|HRAS_ENST00000311189.7_Missense_Mutation_p.Q61R	NM_001130442.1|NM_005343.2	NP_001123914.1|NP_005334.1	P01112	RASH_HUMAN	Harvey rat sarcoma viral oncogene homolog	61			Q -> K (in follicular thyroid carcinoma samples; somatic mutation; increases transformation of cultured cell lines; dbSNP:rs28933406). {ECO:0000269|PubMed:12727991}.|Q -> L (in melanoma; strongly reduced GTP hydrolysis in the presence of RAF1; increases transformation of cultured cell lines).		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular senescence (GO:0090398)|chemotaxis (GO:0006935)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|intrinsic apoptotic signaling pathway (GO:0097193)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|mitotic cell cycle checkpoint (GO:0007093)|negative regulation of cell differentiation (GO:0045596)|negative regulation of cell proliferation (GO:0008285)|negative regulation of gene expression (GO:0010629)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of Rho GTPase activity (GO:0034259)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of JNK cascade (GO:0046330)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of miRNA metabolic process (GO:2000630)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rac protein signal transduction (GO:0035022)|positive regulation of ruffle assembly (GO:1900029)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of wound healing (GO:0090303)|protein heterooligomerization (GO:0051291)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|protein C-terminus binding (GO:0008022)	p.Q61R(136)|p.Q61L(117)|p.Q61P(3)		adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225)	901		all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GTACTCCTCCTGGCCGGCGGT	0.597	Q61L(KNS62_LUNG)|Q61L(KYSE30_OESOPHAGUS)|Q61L(NCIH1915_LUNG)	6	Mis		"infrequent sarcomas, rare other types"	"rhadomyosarcoma, ganglioneuroblastoma, bladder"			Costello syndrome	HNSCC(11;0.0054)																												ENST00000417302.1	Q61L(KNS62_LUNG)|Q61L(KYSE30_OESOPHAGUS)|Q61L(NCIH1915_LUNG)	6	yes	Dom	yes	Costello syndrome	11	11p15.5	3265	Mis	v-Ha-ras Harvey rat sarcoma viral oncogene homolog			"E, L, M"		"rhadomyosarcoma, ganglioneuroblastoma, bladder"	"infrequent sarcomas, rare other types"		256	Substitution - Missense(256)	p.Q61R(136)|p.Q61L(117)|p.Q61P(3)	skin(70)|thyroid(58)|urinary_tract(53)|prostate(23)|upper_aerodigestive_tract(22)|lung(11)|salivary_gland(6)|haematopoietic_and_lymphoid_tissue(5)|testis(3)|liver(2)|cervix(1)|penis(1)|oesophagus(1)	adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225)	901						c.(181-183)cAg>cGg		Harvey rat sarcoma viral oncogene homolog	Sulindac(DB00605)						117	102	107					11																	533874		2203	4300	6503	SO:0001583	missense	3265	Costello syndrome	Familial Cancer Database	incl.: Facio-Cutaneous-Skeletal syndrome	activation of MAPKK activity|axon guidance|blood coagulation|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of DNA replication|positive regulation of epithelial cell proliferation|Ras protein signal transduction|synaptic transmission	cytosol|Golgi membrane|plasma membrane	GTP binding|GTPase activity|protein C-terminus binding	g.chr11:533874T>C	AJ437024	CCDS7698.1, CCDS7699.1	11p15.5	2014-09-17	2013-07-08		ENSG00000174775	ENSG00000174775			5173	protein-coding gene	gene with protein product		190020	"v-Ha-ras Harvey rat sarcoma viral oncogene homolog"	HRAS1			Standard	NM_176795		Approved		uc010qvx.2	P01112	OTTHUMG00000131919	ENST00000451590.1:c.182A>G	11.37:g.533874T>C	ENSP00000407586:p.Gln61Arg	HNSCC(11;0.0054)				HRAS_ENST00000468682.2_5'UTR|HRAS_ENST00000397594.1_Missense_Mutation_p.Q61R|HRAS_ENST00000451590.1_Missense_Mutation_p.Q61R|HRAS_ENST00000397596.2_Missense_Mutation_p.Q61R|HRAS_ENST00000311189.7_Missense_Mutation_p.Q61R	p.Q61R	NM_176795.3	NP_789765.1	P01112	RASH_HUMAN		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)	3	369	-		all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)	61		Q -> K (in follicular thyroid carcinoma samples; somatic mutation; increases transformation of cultured cell lines; dbSNP:rs28933406).|Q -> L (in melanoma; strongly reduced GTP hydrolysis in the presence of RAF1; increases transformation of cultured cell lines).			B5BUA0|Q14080|Q6FHV9|Q9BR65|Q9UCE2	Missense_Mutation	SNP	ENST00000451590.1	37	c.182A>G	CCDS7698.1	.	.	.	.	.	.	.	.	.	.	T	14.48	2.546606	0.45383	.	.	ENSG00000174775	ENST00000397594;ENST00000397596;ENST00000451590;ENST00000417302;ENST00000311189	D;D;D;D;D	0.83673	-1.75;-1.75;-1.75;-1.75;-1.75	3.64	3.64	0.41730	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.85613	0.5737	M	0.90870	3.155	0.80722	D	1	B;B	0.21071	0.051;0.008	B;B	0.22152	0.022;0.038	D	0.85970	0.1476	10	0.66056	D	0.02	.	11.8872	0.52608	0.0:0.0:0.0:1.0	.	61;61	P01112-2;P01112	.;RASH_HUMAN	R	61	ENSP00000380722:Q61R;ENSP00000380723:Q61R;ENSP00000407586:Q61R;ENSP00000388246:Q61R;ENSP00000309845:Q61R	ENSP00000309845:Q61R	Q	-	2	0	HRAS	523874	1.000000	0.71417	0.985000	0.45067	0.482000	0.33219	7.727000	0.84838	1.662000	0.50781	0.459000	0.35465	CAG		0.597	HRAS-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259403.2	NM_176795		7	68	0	0	0	1	0	7	68					C	533874	T	C	533874	3	2	130	1	0	0	0	0	1	0	0	0	7348	1580	55	4	466	4	HRAS	11	533874	Missense_Mutation	SNP	T	TCGA-EJ-A7NJ-01A-22D-A34U-08		533874	134472642	6	6694											
SACS	26278	broad.mit.edu	37	chr13	23906843	23906852	+	Frame_Shift_Del	DEL	AAGGTCACTA	AAGGTCACTA	-																															tcaagctgttcttgtggaccAaggtcactaccttcttgttc																										TCGA-EJ-A7NJ-01A-22D-A34U-08	TCGA-EJ-A7NJ-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eafb824c-0e84-48ec-886f-8c499ac06f94	0fe4914b-4eed-4620-bd08-4a854ee94df6	g.chr13:23906843_23906852delAAGGTCACTA	ENST00000382292.3	-	9	11436_11445	c.11163_11172delTAGTGACCTT	c.(11161-11172)ggtagtgaccttfs	p.GSDL3721fs	SACS_ENST00000402364.1_Frame_Shift_Del_p.GSDL2971fs|SACS_ENST00000382298.3_Frame_Shift_Del_p.GSDL3721fs			Q9NZJ4	SACS_HUMAN	sacsin molecular chaperone	3721					cell death (GO:0008219)|negative regulation of inclusion body assembly (GO:0090084)|protein folding (GO:0006457)	axon (GO:0030424)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chaperone binding (GO:0051087)|Hsp70 protein binding (GO:0030544)|proteasome binding (GO:0070628)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		CTTGTGGACCAAGGTCACTACCTTCTTGTT	0.386																																						ENST00000382298.3																			0				NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189						c.(11161-11172)ggfs		spastic ataxia of Charlevoix-Saguenay (sacsin)																																				SO:0001589	frameshift_variant	26278				cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding	g.chr13:23906843_23906852delAAGGTCACTA	AF193556	CCDS9300.2	13q11	2014-06-13	2014-01-30		ENSG00000151835	ENSG00000151835		"Heat shock proteins / DNAJ (HSP40)"	10519	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 138"	604490	"spastic ataxia of Charlevoix-Saguenay (sacsin)"			10610707, 15057823, 21726565	Standard	NM_001278055		Approved	ARSACS, KIAA0730, DKFZp686B15167, DNAJC29, SPAX6, PPP1R138	uc001uon.3	Q9NZJ4	OTTHUMG00000016562	ENST00000382292.3:c.11163_11172delTAGTGACCTT	13.37:g.23906843_23906852delAAGGTCACTA	ENSP00000371729:p.Gly3721fs					SACS_ENST00000382292.3_Frame_Shift_Del_p.GSDL3721fs|SACS_ENST00000402364.1_Frame_Shift_Del_p.GSDL2971fs	p.GSDL3721fs	NM_014363.4	NP_055178.3	Q9NZJ4	SACS_HUMAN		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)	10	11751_11760	-		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)	3721					O94835|Q5T9J5|Q5T9J7|Q5T9J8|Q68DF5|Q6MZR4|Q8NBF9	Frame_Shift_Del	DEL	ENST00000382292.3	37	c.11163_11172delTAGTGACCTT	CCDS9300.2																																																																																				0.386	SACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044148.3	NM_014363		7	94						7	94	---	---	---	---	-	23906852	AAGGTCACTA	-	23906843	7	5	130	1	0	1	0	1	0	0	0	0	13804	117	5	0	2571	0	SACS	13	23906843	Frame_Shift_Del	DEL	AAGGTCACTA	TCGA-EJ-A7NJ-01A-22D-A34U-08		23906843	91263035	7	6695											
FAM134C	162427	broad.mit.edu	37	chr17	40734812	40734812	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggccaattccctggcaacagTagaatcgtccagcttaggaa	12	8	10	11	1	0	1	0	0	0	1	3	2	2	2	3	3	2	3	3	3	6	3			TCGA-EJ-A7NJ-01A-22D-A34U-08	TCGA-EJ-A7NJ-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eafb824c-0e84-48ec-886f-8c499ac06f94	0fe4914b-4eed-4620-bd08-4a854ee94df6	g.chr17:40734812T>C	ENST00000309428.5	-	8	882	c.823A>G	c.(823-825)Act>Gct	p.T275A	FAM134C_ENST00000543197.1_Missense_Mutation_p.T80A|FAM134C_ENST00000585894.1_Missense_Mutation_p.T178A	NM_178126.3	NP_835227.1	Q86VR2	F134C_HUMAN	family with sequence similarity 134, member C	275						integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(3)|liver(1)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	11		Breast(137;0.00116)		BRCA - Breast invasive adenocarcinoma(366;0.134)		CTGGCAACAGTAGAATCGTCC	0.468																																						ENST00000309428.5																			0				endometrium(1)|large_intestine(3)|liver(1)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	11						c.(823-825)Act>Gct		family with sequence similarity 134, member C							156	147	150					17																	40734812		2203	4300	6503	SO:0001583	missense	162427					integral to membrane		g.chr17:40734812T>C	BC049370	CCDS11432.1	17q21.2	2007-05-01							27258	protein-coding gene	gene with protein product						12477932	Standard	NM_178126		Approved	DKFZp686B1036, FLJ33806	uc002ial.2	Q86VR2		ENST00000309428.5:c.823A>G	17.37:g.40734812T>C	ENSP00000309432:p.Thr275Ala					FAM134C_ENST00000543197.1_Missense_Mutation_p.T80A|FAM134C_ENST00000585894.1_Missense_Mutation_p.T178A	p.T275A	NM_178126.3	NP_835227.1	Q86VR2	F134C_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.134)	8	882	-		Breast(137;0.00116)	275					B3KR75	Missense_Mutation	SNP	ENST00000309428.5	37	c.823A>G	CCDS11432.1	.	.	.	.	.	.	.	.	.	.	T	11.89	1.775055	0.31411	.	.	ENSG00000141699	ENST00000309428;ENST00000543197	T;T	0.47869	0.83;0.87	6.17	0.423	0.16463	.	0.520734	0.22983	N	0.053300	T	0.30572	0.0769	N	0.25647	0.755	0.20307	N	0.999916	B	0.02656	0.0	B	0.01281	0.0	T	0.17684	-1.0361	10	0.20046	T	0.44	-24.3257	11.8508	0.52410	0.0:0.4903:0.0:0.5097	.	275	Q86VR2	F134C_HUMAN	A	275;80	ENSP00000309432:T275A;ENSP00000446235:T80A	ENSP00000309432:T275A	T	-	1	0	FAM134C	37988338	0.000000	0.05858	0.993000	0.49108	0.998000	0.95712	-0.453000	0.06778	-0.191000	0.10448	0.533000	0.62120	ACT		0.468	FAM134C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450536.1	NM_178126		8	123	0	0	0	1	0	8	123					C	40734812	T	C	40734812	3	2	130	1	0	0	0	0	1	0	0	0	5447	1638	57	4	585	4	FAM134C	17	40734812	Missense_Mutation	SNP	T	TCGA-EJ-A7NJ-01A-22D-A34U-08		40734812	40460398	8	6696											
SLC16A3	9123	broad.mit.edu	37	chr17	80194039	80194039	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttcaaggagctcatacaggAgtttgggatcggctacagcg	10	9	13	9	2	2	0	2	0	0	0	3	3	2	3	0	4	4	3	0	4	3	4			TCGA-EJ-A7NJ-01A-22D-A34U-08	TCGA-EJ-A7NJ-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eafb824c-0e84-48ec-886f-8c499ac06f94	0fe4914b-4eed-4620-bd08-4a854ee94df6	g.chr17:80194039A>G	ENST00000581287.1	+	1	2477	c.155A>G	c.(154-156)gAg>gGg	p.E52G	SLC16A3_ENST00000582743.1_Missense_Mutation_p.E52G|SLC16A3_ENST00000392339.1_Missense_Mutation_p.E52G|SLC16A3_ENST00000392341.1_Missense_Mutation_p.E52G|SLC16A3_ENST00000584781.1_3'UTR	NM_001206951.1|NM_001206952.1	NP_001193880.1|NP_001193881.1	O15427	MOT4_HUMAN	solute carrier family 16 (monocarboxylate transporter), member 3	52					blood coagulation (GO:0007596)|cellular metabolic process (GO:0044237)|leukocyte migration (GO:0050900)|monocarboxylic acid transport (GO:0015718)|pyruvate metabolic process (GO:0006090)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	actin cytoskeleton (GO:0015629)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nuclear membrane (GO:0031965)|plasma membrane (GO:0005886)	monocarboxylic acid transmembrane transporter activity (GO:0008028)|poly(A) RNA binding (GO:0044822)|secondary active monocarboxylate transmembrane transporter activity (GO:0015355)|symporter activity (GO:0015293)			endometrium(2)|kidney(1)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	9	Breast(20;0.00285)|all_neural(118;0.0804)|Lung NSC(278;0.128)|all_lung(278;0.145)|Ovarian(332;0.227)		OV - Ovarian serous cystadenocarcinoma(97;0.00463)|BRCA - Breast invasive adenocarcinoma(99;0.0149)		Gamma Hydroxybutyric Acid(DB01440)|Niacin(DB00627)|Pyruvic acid(DB00119)	CTCATACAGGAGTTTGGGATC	0.622																																					Pancreas(52;652 1135 19190 37282 52456)	ENST00000581287.1																			0				endometrium(2)|kidney(1)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	9						c.(154-156)gAg>gGg		solute carrier family 16 (monocarboxylate transporter), member 3	Pyruvic acid(DB00119)						102	93	96					17																	80194039		2203	4300	6503	SO:0001583	missense	9123				blood coagulation|leukocyte migration|organic anion transport|pyruvate metabolic process	actin cytoskeleton|integral to plasma membrane|membrane fraction|nuclear membrane	secondary active monocarboxylate transmembrane transporter activity|symporter activity	g.chr17:80194039A>G	U81800	CCDS11804.1	17q25.3	2013-07-18	2013-07-18		ENSG00000141526	ENSG00000141526		"Solute carriers"	10924	protein-coding gene	gene with protein product		603877	"solute carrier family 16 (monocarboxylic acid transporters), member 3", "solute carrier family 16, member 3 (monocarboxylic acid transporter 4)"			9425115	Standard	NM_004207		Approved	MCT3, MCT4	uc021ufm.1	O15427	OTTHUMG00000178832	ENST00000581287.1:c.155A>G	17.37:g.80194039A>G	ENSP00000463978:p.Glu52Gly					SLC16A3_ENST00000582743.1_Missense_Mutation_p.E52G|SLC16A3_ENST00000584781.1_3'UTR|SLC16A3_ENST00000392341.1_Missense_Mutation_p.E52G|SLC16A3_ENST00000392339.1_Missense_Mutation_p.E52G	p.E52G	NM_001206951.1|NM_001206952.1	NP_001193880.1|NP_001193881.1	O15427	MOT4_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.00463)|BRCA - Breast invasive adenocarcinoma(99;0.0149)		1	2477	+	Breast(20;0.00285)|all_neural(118;0.0804)|Lung NSC(278;0.128)|all_lung(278;0.145)|Ovarian(332;0.227)		52					B3KXG8|Q2M1P8	Missense_Mutation	SNP	ENST00000581287.1	37	c.155A>G	CCDS11804.1	.	.	.	.	.	.	.	.	.	.	A	12.67	2.007898	0.35415	.	.	ENSG00000141526	ENST00000392341;ENST00000392339	T;T	0.60672	0.17;0.17	5.31	4.22	0.49857	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.118759	0.64402	D	0.000008	T	0.73745	0.3626	M	0.85945	2.785	0.58432	D	0.999993	P;D	0.56035	0.949;0.974	P;D	0.67382	0.83;0.951	T	0.72097	-0.4393	10	0.22109	T	0.4	.	10.8491	0.46759	0.8586:0.0:0.0:0.1414	.	52;52	Q53G91;O15427	.;MOT4_HUMAN	G	52	ENSP00000376152:E52G;ENSP00000376150:E52G	ENSP00000376150:E52G	E	+	2	0	SLC16A3	77787328	1.000000	0.71417	0.520000	0.27837	0.470000	0.32858	7.336000	0.79245	0.832000	0.34804	0.460000	0.39030	GAG		0.622	SLC16A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443498.1	NM_004207		4	108	0	0	0	1	0	4	108					G	80194039	A	G	80194039	3	3	130	1	0	0	0	0	1	0	0	0	14409	304	11	4	157	4	SLC16A3	17	80194039	Missense_Mutation	SNP	A	TCGA-EJ-A7NJ-01A-22D-A34U-08	39459227	80194039	1001171	9	6697											
MAST1	22983	broad.mit.edu	37	chr19	12977541	12977541	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aggaggagcccgtggaaatcCgccagttctcttcctgctct	7	10	11	13	2	2	0	0	0	2	0	5	3	4	3	4	3	2	2	4	3	1	2			TCGA-EJ-A7NJ-01A-22D-A34U-08	TCGA-EJ-A7NJ-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eafb824c-0e84-48ec-886f-8c499ac06f94	0fe4914b-4eed-4620-bd08-4a854ee94df6	g.chr19:12977541C>T	ENST00000251472.4	+	18	2143	c.2104C>T	c.(2104-2106)Cgc>Tgc	p.R702C		NM_014975.2	NP_055790.1			microtubule associated serine/threonine kinase 1											NS(1)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(20)|ovary(5)|prostate(5)|skin(3)	56						CGTGGAAATCCGCCAGTTCTC	0.622																																						ENST00000251472.4																			0				NS(1)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(20)|ovary(5)|prostate(5)|skin(3)	56						c.(2104-2106)Cgc>Tgc		microtubule associated serine/threonine kinase 1							86	57	67					19																	12977541		2203	4300	6503	SO:0001583	missense	22983				cytoskeleton organization|intracellular protein kinase cascade	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr19:12977541C>T	AB023190	CCDS32921.1	19p13.2	2008-02-05				ENSG00000105613			19034	protein-coding gene	gene with protein product		612256					Standard	NM_014975		Approved	SAST, KIAA0973	uc002mvm.3	Q9Y2H9		ENST00000251472.4:c.2104C>T	19.37:g.12977541C>T	ENSP00000251472:p.Arg702Cys						p.R702C	NM_014975.2	NP_055790.1	Q9Y2H9	MAST1_HUMAN			18	2143	+			702			AGC-kinase C-terminal.			Missense_Mutation	SNP	ENST00000251472.4	37	c.2104C>T	CCDS32921.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.183731	0.78677	.	.	ENSG00000105613	ENST00000251472;ENST00000542153	T	0.25085	1.82	4.84	4.84	0.62591	AGC-kinase, C-terminal (2);Protein kinase-like domain (1);	0.162179	0.41097	D	0.000952	T	0.47637	0.1456	M	0.79805	2.47	0.50467	D	0.999876	D	0.89917	1.0	P	0.62184	0.899	T	0.49925	-0.8887	10	0.56958	D	0.05	-28.4494	10.9883	0.47534	0.1866:0.8134:0.0:0.0	.	702	Q9Y2H9	MAST1_HUMAN	C	702	ENSP00000251472:R702C	ENSP00000251472:R702C	R	+	1	0	MAST1	12838541	0.012000	0.17670	1.000000	0.80357	0.997000	0.91878	0.222000	0.17699	2.405000	0.81733	0.557000	0.71058	CGC		0.622	MAST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451733.2	NM_014975		4	33	0	0	0	1	0	4	33					T	12977541	C	T	12977541	3	4	130	1	0	0	0	0	1	0	0	0	9324	652	23	2	2174	2	MAST1	19	12977541	Missense_Mutation	SNP	C	TCGA-EJ-A7NJ-01A-22D-A34U-08		12977541	46151442	10	6698											
CACNG7	59284	broad.mit.edu	37	chr19	54444804	54444804	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acaggcccagcagctctgagCagtattttcattatcgctac	10	11	8	12	1	2	1	1	1	1	0	3	1	2	1	1	1	4	5	1	1	3	5			TCGA-EJ-A7NJ-01A-22D-A34U-08	TCGA-EJ-A7NJ-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eafb824c-0e84-48ec-886f-8c499ac06f94	0fe4914b-4eed-4620-bd08-4a854ee94df6	g.chr19:54444804C>A	ENST00000391767.1	+	5	717	c.505C>A	c.(505-507)Cag>Aag	p.Q169K	CACNG7_ENST00000391766.1_Missense_Mutation_p.Q169K|CACNG7_ENST00000222212.2_Missense_Mutation_p.Q169K|CACNG7_ENST00000468076.1_3'UTR			P62955	CCG7_HUMAN	calcium channel, voltage-dependent, gamma subunit 7	169					calcium ion transport (GO:0006816)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)			NS(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0711)		CAGCTCTGAGCAGTATTTTCA	0.547																																						ENST00000391767.1																			0				NS(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23						c.(505-507)Cag>Aag		calcium channel, voltage-dependent, gamma subunit 7							169	146	154					19																	54444804		2203	4300	6503	SO:0001583	missense	59284				regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr19:54444804C>A	AF288387	CCDS12868.1	19q13.4	2008-05-02			ENSG00000105605	ENSG00000105605		"Calcium channel subunits"	13626	protein-coding gene	gene with protein product		606899				11170751	Standard	NM_031896		Approved		uc002qcr.2	P62955	OTTHUMG00000064852	ENST00000391767.1:c.505C>A	19.37:g.54444804C>A	ENSP00000375647:p.Gln169Lys					CACNG7_ENST00000222212.2_Missense_Mutation_p.Q169K|CACNG7_ENST00000468076.1_3'UTR|CACNG7_ENST00000391766.1_Missense_Mutation_p.Q169K	p.Q169K			P62955	CCG7_HUMAN		GBM - Glioblastoma multiforme(134;0.0711)	5	717	+	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)		169					Q52LL8|Q8VBX3|Q8WXS6|Q9BXT1	Missense_Mutation	SNP	ENST00000391767.1	37	c.505C>A	CCDS12868.1	.	.	.	.	.	.	.	.	.	.	C	9.624	1.134513	0.21123	.	.	ENSG00000105605	ENST00000391767;ENST00000222212;ENST00000391766	T;T;T	0.75260	0.04;0.04;-0.92	4.66	4.66	0.58398	.	0.000000	0.85682	D	0.000000	T	0.51702	0.1690	N	0.05078	-0.115	0.80722	D	1	P	0.36086	0.536	B	0.37550	0.253	T	0.57676	-0.7770	10	0.02654	T	1	-17.9555	15.4355	0.75143	0.0:1.0:0.0:0.0	.	169	P62955	CCG7_HUMAN	K	169	ENSP00000375647:Q169K;ENSP00000222212:Q169K;ENSP00000375646:Q169K	ENSP00000222212:Q169K	Q	+	1	0	CACNG7	59136616	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.348000	0.33987	2.323000	0.78572	0.462000	0.41574	CAG		0.547	CACNG7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139240.2			7	103	1	0	0.00198382	1	0.00198382	7	103					A	54444804	C	A	54444804	3	1	130	1	0	0	0	0	1	0	0	0	2562	711	25	5	519	5	CACNG7	19	54444804	Missense_Mutation	SNP	C	TCGA-EJ-A7NJ-01A-22D-A34U-08	41467263	54444804	4684179	11	6699											
UBASH3A	53347	broad.mit.edu	37	chr21	43838616	43838616	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagcaggacgaagccagcgAgggctgggtgattgggatct	9	6	18	8	2	1	1	0	1	1	0	1	5	1	3	1	4	3	3	1	4	1	1			TCGA-EJ-A7NJ-01A-22D-A34U-08	TCGA-EJ-A7NJ-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eafb824c-0e84-48ec-886f-8c499ac06f94	0fe4914b-4eed-4620-bd08-4a854ee94df6	g.chr21:43838616A>T	ENST00000319294.6	+	7	975	c.944A>T	c.(943-945)gAg>gTg	p.E315V	UBASH3A_ENST00000398367.1_Missense_Mutation_p.E277V|RNU6-1149P_ENST00000516810.1_RNA|UBASH3A_ENST00000291535.6_Missense_Mutation_p.E277V	NM_018961.3	NP_061834.1	P57075	UBS3A_HUMAN	ubiquitin associated and SH3 domain containing A	315	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				negative regulation of T cell receptor signaling pathway (GO:0050860)|regulation of cytokine production (GO:0001817)	cytosol (GO:0005829)|nucleus (GO:0005634)	catalytic activity (GO:0003824)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(9)|lung(12)|ovary(3)	28						GAAGCCAGCGAGGGCTGGGTG	0.592																																						ENST00000319294.6																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(9)|lung(12)|ovary(3)	28						c.(943-945)gAg>gTg		ubiquitin associated and SH3 domain containing A							69	70	69					21																	43838616		2203	4300	6503	SO:0001583	missense	53347					cytosol|nucleus		g.chr21:43838616A>T	AJ277750	CCDS13687.1, CCDS33566.1, CCDS58791.1	21q22.3	2010-04-28	2010-04-28		ENSG00000160185	ENSG00000160185			12462	protein-coding gene	gene with protein product		605736				11281453	Standard	NM_018961		Approved	STS-2, TULA, CLIP4	uc002zbf.3	P57075	OTTHUMG00000086805	ENST00000319294.6:c.944A>T	21.37:g.43838616A>T	ENSP00000317327:p.Glu315Val					UBASH3A_ENST00000291535.6_Missense_Mutation_p.E277V|UBASH3A_ENST00000398367.1_Missense_Mutation_p.E277V	p.E315V	NM_018961.3	NP_061834.1	P57075	UBS3A_HUMAN			7	975	+			315			SH3.		G5E9E4|Q6HA34|Q6HA35|Q6ISI6|Q6ISK3|Q6ISS9	Missense_Mutation	SNP	ENST00000319294.6	37	c.944A>T	CCDS13687.1	.	.	.	.	.	.	.	.	.	.	A	23.5	4.424269	0.83667	.	.	ENSG00000160185	ENST00000291535;ENST00000319294;ENST00000398367	T;T;T	0.54071	0.59;0.59;0.59	5.13	3.96	0.45880	Src homology-3 domain (4);	0.091193	0.47455	D	0.000228	T	0.70351	0.3214	M	0.85630	2.765	0.80722	D	1	P;P;D	0.56035	0.943;0.943;0.974	P;P;P	0.60068	0.761;0.839;0.868	T	0.74028	-0.3796	10	0.87932	D	0	-26.0792	11.3579	0.49625	0.8641:0.0:0.0:0.1359	.	277;277;315	G5E9E4;P57075-2;P57075	.;.;UBS3A_HUMAN	V	277;315;277	ENSP00000291535:E277V;ENSP00000317327:E315V;ENSP00000381408:E277V	ENSP00000291535:E277V	E	+	2	0	UBASH3A	42711685	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.437000	0.90302	0.780000	0.33566	0.482000	0.46254	GAG		0.592	UBASH3A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000195382.1	NM_001001895		7	86	0	0	0	1	0	7	86					T	43838616	A	T	43838616	3	4	130	1	0	0	0	0	1	0	0	0	16836	304	11	5	970	5	UBASH3A	21	43838616	Missense_Mutation	SNP	A	TCGA-EJ-A7NJ-01A-22D-A34U-08		43838616	4291279	12	6700											
GPC4	2239	broad.mit.edu	37	chrX	132458207	132458207	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcacgacatctcccgcaaccGctaagccttgagcgaaagta	12	7	8	14	4	2	1	1	1	1	0	3	3	2	1	3	0	3	3	3	0	4	3			TCGA-EJ-A7NJ-01A-22D-A34U-08	TCGA-EJ-A7NJ-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eafb824c-0e84-48ec-886f-8c499ac06f94	0fe4914b-4eed-4620-bd08-4a854ee94df6	g.chrX:132458207G>A	ENST00000370828.3	-	3	1201	c.677C>T	c.(676-678)gCg>gTg	p.A226V	GPC4_ENST00000535467.1_Missense_Mutation_p.A156V	NM_001448.2	NP_001439.2	O75487	GPC4_HUMAN	glypican 4	226					anatomical structure morphogenesis (GO:0009653)|carbohydrate metabolic process (GO:0005975)|cell proliferation (GO:0008283)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|skin(1)|upper_aerodigestive_tract(1)	28	Acute lymphoblastic leukemia(192;0.000127)					TCCCGCAACCGCTAAGCCTTG	0.463																																						ENST00000370828.3																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|skin(1)|upper_aerodigestive_tract(1)	28						c.(676-678)gCg>gTg		glypican 4							85	77	79					X																	132458207		2203	4300	6503	SO:0001583	missense	2239				anatomical structure morphogenesis|cell proliferation	anchored to membrane|external side of plasma membrane|extracellular space|insoluble fraction|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding	g.chrX:132458207G>A	AF030186	CCDS14637.1	Xq26.1	2008-02-05			ENSG00000076716	ENSG00000076716		"Proteoglycans / Cell Surface : Glypicans"	4452	protein-coding gene	gene with protein product	"glypican proteoglycan 4"	300168				9787072	Standard	NM_001448		Approved	K-glypican	uc004exc.1	O75487	OTTHUMG00000022434	ENST00000370828.3:c.677C>T	X.37:g.132458207G>A	ENSP00000359864:p.Ala226Val					GPC4_ENST00000535467.1_Missense_Mutation_p.A156V	p.A226V	NM_001448.2	NP_001439.2	O75487	GPC4_HUMAN			3	1201	-	Acute lymphoblastic leukemia(192;0.000127)		226					B2R6J7|B4E2C0|Q6ZMA6|Q96L43|Q9NU08|Q9UJN1|Q9UPD9	Missense_Mutation	SNP	ENST00000370828.3	37	c.677C>T	CCDS14637.1	.	.	.	.	.	.	.	.	.	.	G	18.50	3.637846	0.67130	.	.	ENSG00000076716	ENST00000370828;ENST00000536418;ENST00000535467	T;T	0.50277	0.75;0.75	6.08	6.08	0.98989	.	0.199262	0.53938	D	0.000050	T	0.52533	0.1740	M	0.64567	1.98	0.49915	D	0.999839	P	0.43607	0.812	B	0.43386	0.418	T	0.49670	-0.8915	10	0.35671	T	0.21	-26.0743	18.3623	0.90379	0.0:0.0:1.0:0.0	.	226	O75487	GPC4_HUMAN	V	226;224;156	ENSP00000359864:A226V;ENSP00000444959:A156V	ENSP00000359864:A226V	A	-	2	0	GPC4	132285873	1.000000	0.71417	0.930000	0.37139	0.484000	0.33280	6.251000	0.72441	2.562000	0.86427	0.600000	0.82982	GCG		0.463	GPC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058338.1	NM_001448		3	36	0	0	0	1	0	3	36					A	132458207	G	A	132458207	3	1	130	1	0	0	0	0	1	0	0	0	6600	1087	38	1	1021	1	GPC4	23	132458207	Missense_Mutation	SNP	G	TCGA-EJ-A7NJ-01A-22D-A34U-08		132458207	22812353	13	6701											
CSRNP1	64651	broad.mit.edu	37	chr3	39185627	39185627	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	atcccagtccagccaccacaCctggcacttgatgcctgcca	9	7	7	18	0	0	1	0	1	0	0	2	1	2	1	7	1	3	1	7	1	0	1			TCGA-EJ-A7NK-01A-12D-A34U-08	TCGA-EJ-A7NK-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a04c6e0d-2d89-46bc-abf3-4e1af709f68a	fcb74e20-c07f-4d98-b7ce-06fe7e073d14	g.chr3:39185627C>T	ENST00000273153.5	-	4	958		c.e4+1		CSRNP1_ENST00000514182.1_Splice_Site	NM_033027.3	NP_149016.2	Q96S65	CSRN1_HUMAN	cysteine-serine-rich nuclear protein 1						apoptotic process (GO:0006915)|face morphogenesis (GO:0060325)|palate development (GO:0060021)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic development (GO:0009791)|skeletal system morphogenesis (GO:0048705)	nucleus (GO:0005634)	RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|skin(3)	24						AGCCACCACACCTGGCACTTG	0.592																																						ENST00000273153.5																			0				central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|skin(3)	24						c.e4+1		cysteine-serine-rich nuclear protein 1							41	43	42					3																	39185627		2203	4300	6503	SO:0001630	splice_region_variant	64651				apoptosis|positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr3:39185627C>T	AB053121	CCDS2682.1	3p22	2009-04-17	2009-04-17	2009-04-17	ENSG00000144655	ENSG00000144655			14300	protein-coding gene	gene with protein product		606458	"AXIN1 up-regulated 1"	AXUD1		11526492, 17726538	Standard	NM_033027		Approved	URAX1, DKFZp566F164, FAM130B, TAIP-3	uc003cjg.3	Q96S65	OTTHUMG00000131293	ENST00000273153.5:c.780+1G>A	3.37:g.39185627C>T						CSRNP1_ENST00000514182.1_Splice_Site		NM_033027.3	NP_149016.2	Q96S65	CSRN1_HUMAN			4	958	-								Q69YY5	Splice_Site	SNP	ENST00000273153.5	37		CCDS2682.1	.	.	.	.	.	.	.	.	.	.	C	13.10	2.137442	0.37728	.	.	ENSG00000144655	ENST00000273153;ENST00000514182	.	.	.	4.6	3.71	0.42584	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.5646	0.45165	0.194:0.806:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CSRNP1	39160631	1.000000	0.71417	0.993000	0.49108	0.627000	0.37826	7.792000	0.85828	1.205000	0.43262	0.561000	0.74099	.		0.592	CSRNP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254061.1	NM_033027	Intron	5	47	0	0	0	1	0	5	47					T	39185627	C	T	39185627	5	4	131	1	0	0	0	0	0	0	1	0	3963	521	18	3	996	3	CSRNP1	3	39185627	Splice_Site	SNP	C	TCGA-EJ-A7NK-01A-12D-A34U-08		39185627	158836803	1	6702											
PBRM1	55193	broad.mit.edu	37	chr3	52696223	52696223	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atctgcttctcctttctgaaCaaactcatttcttgttcgaa	9	17	4	11	1	5	1	1	1	4	0	7	2	5	1	1	0	3	2	1	0	3	5			TCGA-EJ-A7NK-01A-12D-A34U-08	TCGA-EJ-A7NK-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a04c6e0d-2d89-46bc-abf3-4e1af709f68a	fcb74e20-c07f-4d98-b7ce-06fe7e073d14	g.chr3:52696223C>A	ENST00000296302.7	-	4	455	c.454G>T	c.(454-456)Gtt>Ttt	p.V152F	PBRM1_ENST00000356770.4_Missense_Mutation_p.V152F|PBRM1_ENST00000394830.3_Missense_Mutation_p.V152F|PBRM1_ENST00000410007.1_Missense_Mutation_p.V152F|PBRM1_ENST00000409767.1_Missense_Mutation_p.V152F|PBRM1_ENST00000409114.3_Missense_Mutation_p.V152F|PBRM1_ENST00000409057.1_Missense_Mutation_p.V152F|PBRM1_ENST00000337303.4_Missense_Mutation_p.V152F			Q86U86	PB1_HUMAN	polybromo 1	152					chromatin remodeling (GO:0006338)|heart development (GO:0007507)|mitotic nuclear division (GO:0007067)|negative regulation of cell proliferation (GO:0008285)|placenta development (GO:0001890)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	kinetochore (GO:0000776)|nuclear chromosome (GO:0000228)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		CCTTTCTGAACAAACTCATTT	0.408			"Mis, N, F, S, D, O"		"clear cell renal carcinoma, breast"																																	ENST00000356770.4				Rec	yes		3	3p21	55193	"Mis, N, F, S, D, O"	polybromo 1			E			"clear cell renal carcinoma, breast"		0				breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335						c.(454-456)Gtt>Ttt		polybromo 1							252	222	232					3																	52696223		2203	4300	6503	SO:0001583	missense	55193				chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear chromosome	chromatin binding|DNA binding|protein binding	g.chr3:52696223C>A	BC015323	CCDS43099.1	3p21	2007-03-29			ENSG00000163939	ENSG00000163939			30064	protein-coding gene	gene with protein product		606083				11078522, 11483580	Standard	NM_018313		Approved	BAF180, PB1	uc003der.2	Q86U86	OTTHUMG00000152663	ENST00000296302.7:c.454G>T	3.37:g.52696223C>A	ENSP00000296302:p.Val152Phe					PBRM1_ENST00000409057.1_Missense_Mutation_p.V152F|PBRM1_ENST00000410007.1_Missense_Mutation_p.V152F|PBRM1_ENST00000296302.7_Missense_Mutation_p.V152F|PBRM1_ENST00000337303.4_Missense_Mutation_p.V152F|PBRM1_ENST00000409767.1_Missense_Mutation_p.V152F|PBRM1_ENST00000409114.3_Missense_Mutation_p.V152F|PBRM1_ENST00000394830.3_Missense_Mutation_p.V152F	p.V152F			Q86U86	PB1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	4	456	-			152					A1L381|A1L382|A4FUJ7|Q1RMD1|Q1RMD2|Q96MS2|Q9H2T3|Q9H2T4|Q9H2T5|Q9H301|Q9H314	Missense_Mutation	SNP	ENST00000296302.7	37	c.454G>T		.	.	.	.	.	.	.	.	.	.	C	25.9	4.685409	0.88639	.	.	ENSG00000163939	ENST00000356770;ENST00000394830;ENST00000296302;ENST00000337303;ENST00000409057;ENST00000410007;ENST00000409114;ENST00000409767;ENST00000423351;ENST00000446103;ENST00000431678;ENST00000420148	T;T;T;T;T;T;T;T;T;T;T;T	0.50001	2.2;2.2;2.2;2.2;2.2;2.2;2.2;2.2;2.2;2.18;2.2;0.76	5.5	4.63	0.57726	Bromodomain (3);	0.062616	0.64402	D	0.000006	T	0.53334	0.1790	L	0.32530	0.975	0.80722	D	1	D;D;D;D;P;D;D;D;D	0.89917	0.997;0.984;1.0;1.0;0.884;0.996;0.973;1.0;1.0	P;P;D;D;P;P;P;D;D	0.85130	0.907;0.693;0.997;0.997;0.602;0.842;0.551;0.997;0.997	T	0.46105	-0.9215	10	0.08179	T	0.78	-0.3315	14.3328	0.66569	0.0:0.9286:0.0:0.0714	.	152;152;152;152;152;152;152;152;152	Q86U86-9;Q86U86-6;Q86U86-4;Q86U86-2;Q86U86-8;Q86U86-7;Q86U86;Q86U86-3;Q86U86-5	.;.;.;.;.;.;PB1_HUMAN;.;.	F	152;152;152;152;152;152;152;152;152;96;152;152	ENSP00000349213:V152F;ENSP00000378307:V152F;ENSP00000296302:V152F;ENSP00000338302:V152F;ENSP00000386593:V152F;ENSP00000386529:V152F;ENSP00000386643:V152F;ENSP00000386601:V152F;ENSP00000387775:V152F;ENSP00000397662:V96F;ENSP00000409939:V152F;ENSP00000389390:V152F	ENSP00000296302:V152F	V	-	1	0	PBRM1	52671263	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.651000	0.54431	1.332000	0.45431	-0.145000	0.13849	GTT		0.408	PBRM1-008	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000327232.1	NM_018165		6	120	1	0	0.217242	1	0.217242	6	120					A	52696223	C	A	52696223	3	1	131	1	0	0	0	0	1	0	0	0	11491	478	17	5	4554	5	PBRM1	3	52696223	Missense_Mutation	SNP	C	TCGA-EJ-A7NK-01A-12D-A34U-08	13510596	52696223	145326207	2	6703											
RUNX2	860	broad.mit.edu	37	chr6	45390463	45390463	+	Silent	SNP	G	G	A																															caacagcagcagcagcagcaGcaacagcagcagcagcagca																										TCGA-EJ-A7NK-01A-12D-A34U-08	TCGA-EJ-A7NK-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a04c6e0d-2d89-46bc-abf3-4e1af709f68a	fcb74e20-c07f-4d98-b7ce-06fe7e073d14	g.chr6:45390463G>A	ENST00000371438.1	+	2	550	c.192G>A	c.(190-192)caG>caA	p.Q64Q	RP1-244F24.1_ENST00000606796.1_RNA|RUNX2_ENST00000371436.6_Silent_p.Q64Q|RUNX2_ENST00000371432.3_Silent_p.Q50Q|RUNX2_ENST00000576263.1_Silent_p.Q64Q|RUNX2_ENST00000541979.1_Silent_p.Q132Q|RUNX2_ENST00000465038.2_Silent_p.Q64Q|RUNX2_ENST00000359524.5_Silent_p.Q50Q|RUNX2_ENST00000352853.5_Silent_p.Q132Q	NM_001024630.3	NP_001019801.3	Q13950	RUNX2_HUMAN	runt-related transcription factor 2	64	Poly-Gln.				BMP signaling pathway (GO:0030509)|cell maturation (GO:0048469)|cellular response to BMP stimulus (GO:0071773)|chondrocyte development (GO:0002063)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic forelimb morphogenesis (GO:0035115)|endochondral ossification (GO:0001958)|gene expression (GO:0010467)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription, DNA-templated (GO:0045892)|odontogenesis of dentin-containing tooth (GO:0042475)|ossification (GO:0001503)|osteoblast development (GO:0002076)|osteoblast differentiation (GO:0001649)|osteoblast fate commitment (GO:0002051)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus (GO:1901522)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|regulation of odontogenesis of dentin-containing tooth (GO:0042487)|stem cell differentiation (GO:0048863)|T cell differentiation (GO:0030217)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						agcagcagcagcaacagcagc	0.736																																						ENST00000371438.1																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						c.(190-192)caG>caA		runt-related transcription factor 2							11	16	14					6																	45390463		1448	3096	4544	SO:0001819	synonymous_variant	860				negative regulation of transcription, DNA-dependent|osteoblast differentiation|positive regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr6:45390463G>A	AF001450	CCDS43467.1, CCDS43468.1, CCDS43467.2, CCDS43468.2	6p21	2010-08-20			ENSG00000124813	ENSG00000124813			10472	protein-coding gene	gene with protein product		600211		CCD, CBFA1, CCD1		7835892	Standard	NM_001024630		Approved	AML3, PEBP2A1, PEBP2aA1	uc011dvx.2	Q13950	OTTHUMG00000014774	ENST00000371438.1:c.192G>A	6.37:g.45390463G>A						RUNX2_ENST00000541979.1_Silent_p.Q132Q|RUNX2_ENST00000352853.5_Silent_p.Q132Q|RUNX2_ENST00000465038.2_Silent_p.Q64Q|RUNX2_ENST00000371432.3_Silent_p.Q50Q|RUNX2_ENST00000576263.1_Silent_p.Q64Q|RUNX2_ENST00000359524.5_Silent_p.Q50Q|RUNX2_ENST00000371436.6_Silent_p.Q64Q	p.Q64Q	NM_001024630.3	NP_001019801.3	Q13950	RUNX2_HUMAN			2	550	+			64			Poly-Gln.		O14614|O14615|O95181	Silent	SNP	ENST00000371438.1	37	c.192G>A	CCDS43467.2																																																																																				0.736	RUNX2-003	KNOWN	not_organism_supported|upstream_ATG|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040755.2	NM_004348		3	27	0	0	0	1	0	3	27					A	45390463	G	A	45390463	2	1	131	1	0	0	0	0	0	0	0	1	13748	962	34	3		3	RUNX2	6	45390463	Silent	SNP	G	TCGA-EJ-A7NK-01A-12D-A34U-08		45390463	125724604	3	6704	39	2									
RUNX2	860	broad.mit.edu	37	chr6	45390466	45390466	+	Silent	SNP	A	A	G																															cagcagcagcagcagcagcaAcagcagcagcagcagcagga																								rs575896136	byFrequency	TCGA-EJ-A7NK-01A-12D-A34U-08	TCGA-EJ-A7NK-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a04c6e0d-2d89-46bc-abf3-4e1af709f68a	fcb74e20-c07f-4d98-b7ce-06fe7e073d14	g.chr6:45390466A>G	ENST00000371438.1	+	2	553	c.195A>G	c.(193-195)caA>caG	p.Q65Q	RP1-244F24.1_ENST00000606796.1_RNA|RUNX2_ENST00000371436.6_Silent_p.Q65Q|RUNX2_ENST00000371432.3_Silent_p.Q51Q|RUNX2_ENST00000576263.1_Silent_p.Q65Q|RUNX2_ENST00000541979.1_Silent_p.Q133Q|RUNX2_ENST00000465038.2_Silent_p.Q65Q|RUNX2_ENST00000359524.5_Silent_p.Q51Q|RUNX2_ENST00000352853.5_Silent_p.Q133Q	NM_001024630.3	NP_001019801.3	Q13950	RUNX2_HUMAN	runt-related transcription factor 2	65	Poly-Gln.				BMP signaling pathway (GO:0030509)|cell maturation (GO:0048469)|cellular response to BMP stimulus (GO:0071773)|chondrocyte development (GO:0002063)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic forelimb morphogenesis (GO:0035115)|endochondral ossification (GO:0001958)|gene expression (GO:0010467)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription, DNA-templated (GO:0045892)|odontogenesis of dentin-containing tooth (GO:0042475)|ossification (GO:0001503)|osteoblast development (GO:0002076)|osteoblast differentiation (GO:0001649)|osteoblast fate commitment (GO:0002051)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus (GO:1901522)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|regulation of odontogenesis of dentin-containing tooth (GO:0042487)|stem cell differentiation (GO:0048863)|T cell differentiation (GO:0030217)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						agcagcagcaacagcagcagc	0.731													A|||	8	0.00159744	0.0023	0	5008	,	,		7675	0.002		0	False		,,,				2504	0.0031					ENST00000371438.1																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						c.(193-195)caA>caG		runt-related transcription factor 2							10	15	14					6																	45390466		1452	3071	4523	SO:0001819	synonymous_variant	860				negative regulation of transcription, DNA-dependent|osteoblast differentiation|positive regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr6:45390466A>G	AF001450	CCDS43467.1, CCDS43468.1, CCDS43467.2, CCDS43468.2	6p21	2010-08-20			ENSG00000124813	ENSG00000124813			10472	protein-coding gene	gene with protein product		600211		CCD, CBFA1, CCD1		7835892	Standard	NM_001024630		Approved	AML3, PEBP2A1, PEBP2aA1	uc011dvx.2	Q13950	OTTHUMG00000014774	ENST00000371438.1:c.195A>G	6.37:g.45390466A>G						RUNX2_ENST00000541979.1_Silent_p.Q133Q|RUNX2_ENST00000352853.5_Silent_p.Q133Q|RUNX2_ENST00000465038.2_Silent_p.Q65Q|RUNX2_ENST00000371432.3_Silent_p.Q51Q|RUNX2_ENST00000576263.1_Silent_p.Q65Q|RUNX2_ENST00000359524.5_Silent_p.Q51Q|RUNX2_ENST00000371436.6_Silent_p.Q65Q	p.Q65Q	NM_001024630.3	NP_001019801.3	Q13950	RUNX2_HUMAN			2	553	+			65			Poly-Gln.		O14614|O14615|O95181	Silent	SNP	ENST00000371438.1	37	c.195A>G	CCDS43467.2																																																																																				0.731	RUNX2-003	KNOWN	not_organism_supported|upstream_ATG|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040755.2	NM_004348		3	27	0	0	0	1	0	3	27					G	45390466	A	G	45390466	2	3	131	1	0	0	0	0	0	0	0	1	13748	40	2	4		4	RUNX2	6	45390466	Silent	SNP	A	TCGA-EJ-A7NK-01A-12D-A34U-08	3	45390466	125724601	4	6705	39	2									
SSPO	23145	broad.mit.edu	37	chr7	149493511	149493511	+	RNA	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgccgtatggactttcggccGcatggtgcaggcgaggtttg	5	11	16	9	4	0	0	0	0	0	0	1	2	0	1	2	5	2	4	2	5	1	3	rs569350279		TCGA-EJ-A7NK-01A-12D-A34U-08	TCGA-EJ-A7NK-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a04c6e0d-2d89-46bc-abf3-4e1af709f68a	fcb74e20-c07f-4d98-b7ce-06fe7e073d14	g.chr7:149493511G>A	ENST00000378016.2	+	0	6587							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion (GO:0007155)	extracellular space (GO:0005615)	peptidase inhibitor activity (GO:0030414)					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			ACTTTCGGCCGCATGGTGCAG	0.607													G|||	1	0.000199681	8e-04	0	5008	,	,		19119	0		0	False		,,,				2504	0					ENST00000378016.2																			0													SCO-spondin							98	113	108					7																	149493511		2143	4242	6385			23145				cell adhesion	extracellular space	peptidase inhibitor activity	g.chr7:149493511G>A	AK093431		7q36.1	2013-08-07	2013-08-06		ENSG00000197558	ENSG00000197558			21998	protein-coding gene	gene with protein product	"subcommissural organ spondin", "SCO protein, thrombospondin domain containing"		"SCO-spondin homolog (Bos taurus)"			8743952, 11008217	Standard	NM_198455		Approved	SCO-spondin, KIAA0543, FLJ36112	uc010lpk.3	A2VEC9	OTTHUMG00000157884		7.37:g.149493511G>A										A2VEC9	SSPO_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00625)		0	6587	+	Melanoma(164;0.165)|Ovarian(565;0.177)							Q76B61	RNA	SNP	ENST00000378016.2	37																																																																																						0.607	SSPO-202	KNOWN	basic	processed_transcript	processed_transcript				4	103	0	0	0	1	0	4	103					A	149493511	G	A	149493511	1	1	131	0	1	0	0	0	0	0	0	0	15188	1087	38	1		1	SSPO	7	149493511	RNA	SNP	G	TCGA-EJ-A7NK-01A-12D-A34U-08		149493511	9645152	5	6706											
SEZ6L	23544	broad.mit.edu	37	chr22	26743709	26743709	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atcaaggaatgactcctgctCggatttacccgagatccaga	12	9	9	11	2	1	3	1	1	0	2	4	6	3	5	3	2	2	1	3	2	3	2	rs574275567		TCGA-EJ-A7NK-01A-12D-A34U-08	TCGA-EJ-A7NK-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a04c6e0d-2d89-46bc-abf3-4e1af709f68a	fcb74e20-c07f-4d98-b7ce-06fe7e073d14	g.chr22:26743709C>T	ENST00000248933.6	+	11	2332	c.2237C>T	c.(2236-2238)tCg>tTg	p.S746L	SEZ6L_ENST00000360929.3_Missense_Mutation_p.S746L|SEZ6L_ENST00000403121.1_Missense_Mutation_p.S519L|SEZ6L_ENST00000529632.2_Missense_Mutation_p.S746L|SEZ6L_ENST00000404234.3_Missense_Mutation_p.S746L|SEZ6L_ENST00000411842.2_5'UTR|SEZ6L_ENST00000343706.4_Missense_Mutation_p.S746L|SEZ6L_ENST00000402979.1_Missense_Mutation_p.S519L			Q9BYH1	SE6L1_HUMAN	seizure related 6 homolog (mouse)-like	746	Sushi 3. {ECO:0000255|PROSITE- ProRule:PRU00302}.				adult locomotory behavior (GO:0008344)|cerebellar Purkinje cell layer development (GO:0021680)|regulation of protein kinase C signaling (GO:0090036)|synapse maturation (GO:0060074)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	80						GACTCCTGCTCGGATTTACCC	0.517													C|||	1	0.000199681	0	0	5008	,	,		18252	0.001		0	False		,,,				2504	0					ENST00000529632.2																			0				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	80						c.(2236-2238)tCg>tTg		seizure related 6 homolog (mouse)-like							74	70	71					22																	26743709		2203	4300	6503	SO:0001583	missense	23544					endoplasmic reticulum membrane|integral to membrane		g.chr22:26743709C>T	AL050253	CCDS13833.1, CCDS54508.1, CCDS54510.1, CCDS54511.1, CCDS74837.1	22q12.1	2008-05-14	2001-11-28		ENSG00000100095	ENSG00000100095			10763	protein-coding gene	gene with protein product		607021	"seizure related gene 6 (mouse)-like"				Standard	NM_021115		Approved		uc003acb.3	Q9BYH1	OTTHUMG00000150870	ENST00000248933.6:c.2237C>T	22.37:g.26743709C>T	ENSP00000248933:p.Ser746Leu					SEZ6L_ENST00000360929.3_Missense_Mutation_p.S746L|SEZ6L_ENST00000404234.3_Missense_Mutation_p.S746L|SEZ6L_ENST00000411842.2_5'UTR|SEZ6L_ENST00000248933.6_Missense_Mutation_p.S746L|SEZ6L_ENST00000403121.1_Missense_Mutation_p.S519L|SEZ6L_ENST00000343706.4_Missense_Mutation_p.S746L|SEZ6L_ENST00000402979.1_Missense_Mutation_p.S519L	p.S746L	NM_001184774.1|NM_001184775.1|NM_001184777.1	NP_001171703.1|NP_001171704.1|NP_001171706.1	Q9BYH1	SE6L1_HUMAN			11	2433	+			746			Sushi 3.		A0AUW7|B0QYG4|B0QYG5|B7ZLJ6|G8JLP3|O95917|Q5THY5|Q6IBZ4|Q6UXD4|Q9NUI3|Q9NUI4|Q9NUI5|Q9Y2E1|Q9Y3J6	Missense_Mutation	SNP	ENST00000248933.6	37	c.2237C>T	CCDS13833.1	.	.	.	.	.	.	.	.	.	.	C	18.29	3.592053	0.66219	.	.	ENSG00000100095	ENST00000404234;ENST00000529632;ENST00000360929;ENST00000248933;ENST00000343706;ENST00000403121;ENST00000402979	T;T;T;T;T;T;T	0.64991	-0.13;-0.13;-0.13;-0.13;-0.13;-0.13;-0.13	4.88	3.84	0.44239	Complement control module (2);Sushi/SCR/CCP (3);	0.161209	0.29100	N	0.013144	T	0.47764	0.1463	L	0.35487	1.065	0.80722	D	1	B;B;B;P;B;B;B	0.35208	0.429;0.192;0.083;0.49;0.228;0.115;0.115	B;B;B;B;B;B;B	0.28305	0.088;0.08;0.016;0.081;0.081;0.08;0.08	T	0.57136	-0.7863	10	0.72032	D	0.01	.	12.7022	0.57041	0.0:0.9192:0.0:0.0808	.	746;746;519;746;746;746;746	B7ZLJ8;B7ZLJ6;B0QYH4;Q9BYH1-5;Q9BYH1-4;B0QYG3;Q9BYH1	.;.;.;.;.;.;SE6L1_HUMAN	L	746;746;746;746;746;519;519	ENSP00000384772:S746L;ENSP00000437037:S746L;ENSP00000354185:S746L;ENSP00000248933:S746L;ENSP00000342661:S746L;ENSP00000384838:S519L;ENSP00000384733:S519L	ENSP00000248933:S746L	S	+	2	0	SEZ6L	25073709	1.000000	0.71417	0.963000	0.40424	0.901000	0.52897	5.529000	0.67135	2.543000	0.85770	0.655000	0.94253	TCG		0.517	SEZ6L-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000320359.3			5	46	0	0	0	1	0	5	46					T	26743709	C	T	26743709	3	4	131	1	0	0	0	0	1	0	0	0	14143	893	31	2	2279	2	SEZ6L	22	26743709	Missense_Mutation	SNP	C	TCGA-EJ-A7NK-01A-12D-A34U-08		26743709	24560857	6	6707											
HSPG2	3339	broad.mit.edu	37	chr1	22155393	22155393	+	Frame_Shift_Del	DEL	C	C	-																															ggacagtggcacggaaggctCcacaccccccaggtagagca																										TCGA-EJ-A7NM-01A-21D-A33T-08	TCGA-EJ-A7NM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da5750e6-fb1c-4bd9-9fc7-fa93504b0690	0892efc4-b6f5-47e3-befe-b685ebb7d359	g.chr1:22155393delC	ENST00000374695.3	-	88	12251	c.12172delG	c.(12172-12174)gagfs	p.E4058fs	HSPG2_ENST00000486901.1_5'UTR	NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	4058	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				angiogenesis (GO:0001525)|brain development (GO:0007420)|carbohydrate metabolic process (GO:0005975)|cardiac muscle tissue development (GO:0048738)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|chondrocyte differentiation (GO:0002062)|chondroitin sulfate metabolic process (GO:0030204)|embryonic skeletal system morphogenesis (GO:0048704)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|lipoprotein metabolic process (GO:0042157)|phototransduction, visible light (GO:0007603)|protein localization (GO:0008104)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	basal lamina (GO:0005605)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Palifermin(DB00039)	ACGGAAGGCTCCACACCCCCC	0.687																																						ENST00000374695.3																			0				breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127						c.(12172-12174)agfs		heparan sulfate proteoglycan 2	Becaplermin(DB00102)|Palifermin(DB00039)						35	36	35					1																	22155393		2183	4272	6455	SO:0001589	frameshift_variant	3339				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding	g.chr1:22155393delC	M85289	CCDS30625.1	1p36.1-p35	2013-01-29	2007-02-16	2007-02-16	ENSG00000142798	ENSG00000142798		"Proteoglycans / Extracellular Matrix : Other", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5273	protein-coding gene	gene with protein product	"perlecan proteoglycan"	142461	"Schwartz-Jampel syndrome 1 (chondrodystrophic myotonia)"	SJS1		1685141, 11941538	Standard	XM_005245863		Approved	perlecan, PRCAN	uc001bfj.3	P98160	OTTHUMG00000002674	ENST00000374695.3:c.12172delG	1.37:g.22155393delC	ENSP00000363827:p.Glu4058fs					HSPG2_ENST00000486901.1_5'UTR	p.E4058fs	NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	88	12251	-		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)	4058			Laminin G-like 2.		Q16287|Q5SZI3|Q9H3V5	Frame_Shift_Del	DEL	ENST00000374695.3	37	c.12172delG	CCDS30625.1																																																																																				0.687	HSPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007598.1	NM_005529		2	4						2	4	---	---	---	---	-	22155393	C	-	22155393	7	5	132	1	0	1	0	1	0	0	0	0	7430	864	30	0	1043	0	HSPG2	1	22155393	Frame_Shift_Del	DEL	C	TCGA-EJ-A7NM-01A-21D-A33T-08		22155393	227095228	1	6708											
SPOCD1	90853	broad.mit.edu	37	chr1	32259746	32259746	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cttgcagatgtggcagttggGgtctaagaagtggtggtcat	8	12	16	5	0	2	2	1	0	1	2	2	2	2	2	0	5	1	3	0	5	2	3			TCGA-EJ-A7NM-01A-21D-A33T-08	TCGA-EJ-A7NM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da5750e6-fb1c-4bd9-9fc7-fa93504b0690	0892efc4-b6f5-47e3-befe-b685ebb7d359	g.chr1:32259746G>A	ENST00000360482.2	-	11	2491	c.2362C>T	c.(2362-2364)Ccc>Tcc	p.P788S	SPOCD1_ENST00000257100.3_Missense_Mutation_p.P281S|RP11-84A19.3_ENST00000527035.1_RNA|SPOCD1_ENST00000533231.1_Missense_Mutation_p.P788S|SPOCD1_ENST00000373648.2_3'UTR	NM_144569.4	NP_653170.3	Q6ZMY3	SPOC1_HUMAN	SPOC domain containing 1	788					negative regulation of phosphatase activity (GO:0010923)|transcription, DNA-templated (GO:0006351)					NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(1)|lung(7)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	37		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)|Ovarian(437;0.199)		STAD - Stomach adenocarcinoma(196;0.18)		TGGCAGTTGGGGTCTAAGAAG	0.637																																						ENST00000360482.2																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(1)|lung(7)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	37						c.(2362-2364)Ccc>Tcc		SPOC domain containing 1							79	60	66					1																	32259746		2203	4300	6503	SO:0001583	missense	90853				transcription, DNA-dependent			g.chr1:32259746G>A	AK058077	CCDS347.1, CCDS60066.1, CCDS72748.1	1p35.1	2014-06-13			ENSG00000134668	ENSG00000134668			26338	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 146"					12477932	Standard	NM_144569		Approved	FLJ25348, PPP1R146	uc001bts.1	Q6ZMY3	OTTHUMG00000003879	ENST00000360482.2:c.2362C>T	1.37:g.32259746G>A	ENSP00000353670:p.Pro788Ser					SPOCD1_ENST00000373648.2_3'UTR|SPOCD1_ENST00000533231.1_Missense_Mutation_p.P788S|SPOCD1_ENST00000257100.3_Missense_Mutation_p.P281S	p.P788S	NM_144569.4	NP_653170.3	Q6ZMY3	SPOC1_HUMAN		STAD - Stomach adenocarcinoma(196;0.18)	11	2491	-		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)|Ovarian(437;0.199)	788					Q24JU3|Q6PI90|Q8N869|Q8N8U0|Q8NBC6|Q96LN6	Missense_Mutation	SNP	ENST00000360482.2	37	c.2362C>T	CCDS347.1	.	.	.	.	.	.	.	.	.	.	G	7.580	0.668481	0.14776	.	.	ENSG00000134668	ENST00000257100;ENST00000360482;ENST00000294514;ENST00000452755;ENST00000533231;ENST00000449266	T;T;T;T	0.44083	0.96;1.94;0.93;1.93	5.07	4.15	0.48705	.	.	.	.	.	T	0.25827	0.0629	N	0.22421	0.69	0.80722	D	1	B;B;B	0.18461	0.005;0.028;0.003	B;B;B	0.18263	0.017;0.021;0.018	T	0.05533	-1.0879	9	0.15952	T	0.53	-12.9145	8.9854	0.35990	0.1055:0.0:0.8945:0.0	.	788;224;788	Q6ZMY3-2;E9PPM7;Q6ZMY3	.;.;SPOC1_HUMAN	S	281;788;185;224;788;131	ENSP00000257100:P281S;ENSP00000353670:P788S;ENSP00000399778:P224S;ENSP00000435851:P788S	ENSP00000257100:P281S	P	-	1	0	SPOCD1	32032333	1.000000	0.71417	0.990000	0.47175	0.496000	0.33645	1.189000	0.32114	1.250000	0.43966	0.557000	0.71058	CCC		0.637	SPOCD1-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000381912.1	NM_144569		17	36	0	0	0	1	0	17	36					A	32259746	G	A	32259746	3	1	132	1	0	0	0	0	1	0	0	0	15077	1232	43	3	1312	3	SPOCD1	1	32259746	Missense_Mutation	SNP	G	TCGA-EJ-A7NM-01A-21D-A33T-08	10104353	32259746	216990875	2	6709											
C1orf177	163747	broad.mit.edu	37	chr1	55273356	55273356	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggccatcatgaaagagaagcGgctgaaggtgaggcctctgg	11	6	16	8	1	2	4	1	3	1	1	2	5	2	4	2	5	1	1	2	5	3	0	rs201438425	byFrequency	TCGA-EJ-A7NM-01A-21D-A33T-08	TCGA-EJ-A7NM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da5750e6-fb1c-4bd9-9fc7-fa93504b0690	0892efc4-b6f5-47e3-befe-b685ebb7d359	g.chr1:55273356G>A	ENST00000371273.3	+	3	365	c.350G>A	c.(349-351)cGg>cAg	p.R117Q	C1orf177_ENST00000358193.3_Missense_Mutation_p.R117Q	NM_001110533.1	NP_001104003	Q3ZCV2	CA177_HUMAN	chromosome 1 open reading frame 177	117										breast(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(6)|prostate(2)	17						AAAGAGAAGCGGCTGAAGGTG	0.617													G|||	2	0.000399361	0	0.0029	5008	,	,		16928	0		0	False		,,,				2504	0					ENST00000358193.3																			0				breast(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(6)|prostate(2)	17						c.(349-351)cGg>cAg		chromosome 1 open reading frame 177							36	36	36					1																	55273356		2203	4300	6503	SO:0001583	missense	163747							g.chr1:55273356G>A	AK097520	CCDS599.1, CCDS44153.1	1p32.3	2012-07-25			ENSG00000162398	ENSG00000162398			26854	protein-coding gene	gene with protein product							Standard	NM_152607		Approved	FLJ40201	uc001cyb.4	Q3ZCV2	OTTHUMG00000009986	ENST00000371273.3:c.350G>A	1.37:g.55273356G>A	ENSP00000360320:p.Arg117Gln					C1orf177_ENST00000371273.3_Missense_Mutation_p.R117Q	p.R117Q	NM_152607.2	NP_689820.2	Q3ZCV2	CA177_HUMAN			3	404	+			117					B7WPL2|Q8N7Y9	Missense_Mutation	SNP	ENST00000371273.3	37	c.350G>A	CCDS44153.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	5.322	0.244789	0.10077	.	.	ENSG00000162398	ENST00000358193;ENST00000371273	T;T	0.22336	1.96;1.96	4.67	-5.63	0.02474	.	1.788920	0.03005	N	0.148736	T	0.08044	0.0201	N	0.02916	-0.46	0.09310	N	1	B;B	0.16396	0.017;0.017	B;B	0.10450	0.005;0.005	T	0.30357	-0.9981	10	0.13853	T	0.58	.	9.0164	0.36173	0.6803:0.0:0.2123:0.1074	.	117;117	Q3ZCV2;Q3ZCV2-2	CA177_HUMAN;.	Q	117	ENSP00000350924:R117Q;ENSP00000360320:R117Q	ENSP00000350924:R117Q	R	+	2	0	C1orf177	55045944	0.000000	0.05858	0.156000	0.22583	0.692000	0.40212	-1.339000	0.02652	-1.008000	0.03404	-1.105000	0.02106	CGG		0.617	C1orf177-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000027674.1	NM_152607		4	14	0	0	0	1	0	4	14					A	55273356	G	A	55273356	3	1	132	1	0	0	0	0	1	0	0	0	2017	1116	39	2	360	2	C1orf177	1	55273356	Missense_Mutation	SNP	G	TCGA-EJ-A7NM-01A-21D-A33T-08	23013610	55273356	193977265	3	6710											
ADORA3	140	broad.mit.edu	37	chr1	112045902	112045902	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agcacgttgcccactatggcGcagagtccaatgaaaatttc	12	9	9	11	2	0	2	0	1	0	1	2	2	1	2	2	1	2	3	2	1	4	3	rs368279686		TCGA-EJ-A7NM-01A-21D-A33T-08	TCGA-EJ-A7NM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da5750e6-fb1c-4bd9-9fc7-fa93504b0690	0892efc4-b6f5-47e3-befe-b685ebb7d359	g.chr1:112045902G>A	ENST00000241356.4	-	1	480	c.75C>T	c.(73-75)tgC>tgT	p.C25C	ADORA3_ENST00000369717.4_Intron|ADORA3_ENST00000486342.1_5'Flank|ADORA3_ENST00000369716.4_Silent_p.C25C	NM_000677.3	NP_000668.1	P33765	AA3R_HUMAN	adenosine A3 receptor	25					activation of adenylate cyclase activity (GO:0007190)|histamine secretion by mast cell (GO:0002553)|inflammatory response (GO:0006954)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of inflammatory response (GO:0050729)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of mast cell degranulation (GO:0043306)|positive regulation of mucus secretion (GO:0070257)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|regulation of heart contraction (GO:0008016)|response to wounding (GO:0009611)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|mast cell granule (GO:0042629)|plasma membrane (GO:0005886)	G-protein coupled adenosine receptor activity (GO:0001609)			NS(1)|breast(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)|skin(1)	12		all_cancers(81;1.63e-06)|all_epithelial(167;5.01e-06)|all_lung(203;8.02e-05)|Lung NSC(277;0.000156)		all cancers(265;0.0185)|Colorectal(144;0.0186)|Lung(183;0.0238)|COAD - Colon adenocarcinoma(174;0.0644)|Epithelial(280;0.0872)|LUSC - Lung squamous cell carcinoma(189;0.134)	Adenosine(DB00640)|Aminophylline(DB01223)|Enprofylline(DB00824)	CCACTATGGCGCAGAGTCCAA	0.527																																						ENST00000241356.4																			0				NS(1)|breast(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)|skin(1)	12						c.(73-75)tgC>tgT		adenosine A3 receptor	Adenosine(DB00640)|Aminophylline(DB01223)	G	,,	0,4406		0,0,2203	75	61	65		75,,75	-9.2	0.8	1		65	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,intron,coding-synonymous	ADORA3	NM_000677.3,NM_001081976.1,NM_020683.6	,,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,,	25/319,,25/348	112045902	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	140				activation of adenylate cyclase activity|inflammatory response|regulation of heart contraction	integral to plasma membrane	adenosine receptor activity, G-protein coupled	g.chr1:112045902G>A	BC029831	CCDS838.1, CCDS839.1, CCDS41369.1	1p13.2	2014-09-17			ENSG00000121933	ENSG00000121933		"GPCR / Class A : Adenosine receptors", "Immunoglobulin superfamily / V-set domain containing"	268	protein-coding gene	gene with protein product		600445				7607699	Standard	NM_020683		Approved	AD026	uc001ebf.3	P33765	OTTHUMG00000011957	ENST00000241356.4:c.75C>T	1.37:g.112045902G>A						ADORA3_ENST00000369717.4_Intron|ADORA3_ENST00000369716.4_Silent_p.C25C	p.C25C	NM_000677.3	NP_000668.1	P33765	AA3R_HUMAN		all cancers(265;0.0185)|Colorectal(144;0.0186)|Lung(183;0.0238)|COAD - Colon adenocarcinoma(174;0.0644)|Epithelial(280;0.0872)|LUSC - Lung squamous cell carcinoma(189;0.134)	1	480	-		all_cancers(81;1.63e-06)|all_epithelial(167;5.01e-06)|all_lung(203;8.02e-05)|Lung NSC(277;0.000156)	25					A2A3P4|Q6UWU0|Q9BYZ1	Silent	SNP	ENST00000241356.4	37	c.75C>T	CCDS839.1																																																																																				0.527	ADORA3-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033065.1	NM_000677, NM_020683		12	30	0	0	0	1	0	12	30					A	112045902	G	A	112045902	2	1	132	1	0	0	0	0	0	0	0	1	329	1079	38	1		1	ADORA3	1	112045902	Silent	SNP	G	TCGA-EJ-A7NM-01A-21D-A33T-08	56772546	112045902	137204719	4	6711											
KCND3	3752	broad.mit.edu	37	chr1	112525243	112525243	+	Nonsense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatcagctcatcctgccgctTgttcttgtcggccggggcca	5	11	11	14	3	3	0	2	0	1	0	5	0	4	0	4	3	2	3	4	3	1	3			TCGA-EJ-A7NM-01A-21D-A33T-08	TCGA-EJ-A7NM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da5750e6-fb1c-4bd9-9fc7-fa93504b0690	0892efc4-b6f5-47e3-befe-b685ebb7d359	g.chr1:112525243T>A	ENST00000315987.2	-	2	585	c.106A>T	c.(106-108)Aag>Tag	p.K36*	KCND3_ENST00000369697.1_Nonsense_Mutation_p.K36*|KCND3_ENST00000302127.4_Nonsense_Mutation_p.K36*	NM_004980.4	NP_004971.2	Q9UK17	KCND3_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 3	36					cell death (GO:0008219)|membrane repolarization (GO:0086009)|potassium ion export (GO:0071435)|potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|neuronal cell body (GO:0043025)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	A-type (transient outward) potassium channel activity (GO:0005250)|ion channel binding (GO:0044325)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	49		all_cancers(81;8.52e-06)|all_epithelial(167;5.65e-06)|all_lung(203;2.72e-05)|Lung NSC(69;4.56e-05)		all cancers(265;0.056)|Lung(183;0.0576)|Colorectal(144;0.1)|Epithelial(280;0.104)|COAD - Colon adenocarcinoma(174;0.222)|LUSC - Lung squamous cell carcinoma(189;0.231)	Amitriptyline(DB00321)|Dalfampridine(DB06637)|Disopyramide(DB00280)|Imipramine(DB00458)	TCCTGCCGCTTGTTCTTGTCG	0.687																																						ENST00000369697.1																			0				NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	49						c.(106-108)Aag>Tag		potassium voltage-gated channel, Shal-related subfamily, member 3							45	44	44					1																	112525243		2203	4300	6503	SO:0001587	stop_gained	3752					sarcolemma|voltage-gated potassium channel complex	A-type (transient outward) potassium channel activity|metal ion binding	g.chr1:112525243T>A	AF048713	CCDS843.1, CCDS844.1	1p13.2	2014-09-17			ENSG00000171385	ENSG00000171385		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6239	protein-coding gene	gene with protein product		605411	"spinocerebellar ataxia 22", "spinocerebellar ataxia 19"	SCA22, SCA19		10942109, 16382104, 23280837	Standard	NM_172198		Approved	Kv4.3, KSHIVB	uc001ebu.1	Q9UK17	OTTHUMG00000011989	ENST00000315987.2:c.106A>T	1.37:g.112525243T>A	ENSP00000319591:p.Lys36*					KCND3_ENST00000315987.2_Nonsense_Mutation_p.K36*|KCND3_ENST00000302127.4_Nonsense_Mutation_p.K36*	p.K36*			Q9UK17	KCND3_HUMAN		all cancers(265;0.056)|Lung(183;0.0576)|Colorectal(144;0.1)|Epithelial(280;0.104)|COAD - Colon adenocarcinoma(174;0.222)|LUSC - Lung squamous cell carcinoma(189;0.231)	1	175	-		all_cancers(81;8.52e-06)|all_epithelial(167;5.65e-06)|all_lung(203;2.72e-05)|Lung NSC(69;4.56e-05)	36					O60576|O60577|Q14D71|Q5T0M0|Q9UH85|Q9UH86|Q9UK16	Nonsense_Mutation	SNP	ENST00000315987.2	37	c.106A>T	CCDS843.1	.	.	.	.	.	.	.	.	.	.	T	38	7.110987	0.98070	.	.	ENSG00000171385	ENST00000369697;ENST00000315987;ENST00000302127	.	.	.	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.0923	0.72204	0.0:0.0:0.0:1.0	.	.	.	.	X	36	.	ENSP00000306923:K36X	K	-	1	0	KCND3	112326766	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.289000	0.72696	2.055000	0.61198	0.459000	0.35465	AAG		0.687	KCND3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000033144.1	NM_172198		5	51	0	0	0	1	0	5	51					A	112525243	T	A	112525243	4	1	132	1	0	0	0	0	0	1	0	0	8020	1821	63	5	1889	5	KCND3	1	112525243	Nonsense_Mutation	SNP	T	TCGA-EJ-A7NM-01A-21D-A33T-08	479341	112525243	136725378	5	6712											
WDR3	10885	broad.mit.edu	37	chr1	118484412	118484412	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aattgttttgtatcctttccAaaaaggaaattcagaagaaa	17	13	6	5	0	1	2	1	0	0	2	3	3	3	3	2	1	0	2	2	1	7	6			TCGA-EJ-A7NM-01A-21D-A33T-08	TCGA-EJ-A7NM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da5750e6-fb1c-4bd9-9fc7-fa93504b0690	0892efc4-b6f5-47e3-befe-b685ebb7d359	g.chr1:118484412A>G	ENST00000349139.5	+	9	978	c.931A>G	c.(931-933)Aaa>Gaa	p.K311E		NM_006784.2	NP_006775.1	Q9UNX4	WDR3_HUMAN	WD repeat domain 3	311						nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(9)|liver(2)|lung(22)|prostate(2)|upper_aerodigestive_tract(1)	49	Esophageal squamous(2;0.162)	all_cancers(81;2.72e-05)|Acute lymphoblastic leukemia(138;1e-08)|all_epithelial(167;4.4e-07)|all_lung(203;1.7e-06)|Lung NSC(69;1.98e-05)|Prostate(1639;0.00955)|Breast(1374;0.244)		OV - Ovarian serous cystadenocarcinoma(397;1.39e-08)|Epithelial(280;1.82e-07)|all cancers(265;2.04e-05)|Lung(183;0.0525)|BRCA - Breast invasive adenocarcinoma(282;0.0695)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.185)		TATCCTTTCCAAAAAGGAAAT	0.323																																						ENST00000349139.4																			0				breast(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(9)|liver(2)|lung(22)|prostate(2)|upper_aerodigestive_tract(1)	49						c.(931-933)Aaa>Gaa		WD repeat domain 3							83	83	83					1																	118484412		2203	4297	6500	SO:0001583	missense	10885					nuclear membrane|nucleolus		g.chr1:118484412A>G	AF083217	CCDS898.1	1p12	2013-01-09			ENSG00000065183	ENSG00000065183		"WD repeat domain containing"	12755	protein-coding gene	gene with protein product		604737				10395803	Standard	NM_006784		Approved	FLJ12796, UTP12, DIP2	uc010oxe.1	Q9UNX4	OTTHUMG00000012197	ENST00000349139.5:c.931A>G	1.37:g.118484412A>G	ENSP00000308179:p.Lys311Glu						p.K311E	NM_006784.2	NP_006775.1	Q9UNX4	WDR3_HUMAN		OV - Ovarian serous cystadenocarcinoma(397;1.39e-08)|Epithelial(280;1.82e-07)|all cancers(265;2.04e-05)|Lung(183;0.0525)|BRCA - Breast invasive adenocarcinoma(282;0.0695)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.185)	9	978	+	Esophageal squamous(2;0.162)	all_cancers(81;2.72e-05)|Acute lymphoblastic leukemia(138;1e-08)|all_epithelial(167;4.4e-07)|all_lung(203;1.7e-06)|Lung NSC(69;1.98e-05)|Prostate(1639;0.00955)|Breast(1374;0.244)	311						Missense_Mutation	SNP	ENST00000349139.5	37	c.931A>G	CCDS898.1	.	.	.	.	.	.	.	.	.	.	A	6.487	0.458121	0.12342	.	.	ENSG00000065183	ENST00000349139	T	0.81078	-1.45	5.48	3.19	0.36642	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.145674	0.64402	D	0.000009	T	0.21841	0.0526	N	0.00621	-1.32	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.44636	-0.9315	10	0.02654	T	1	-5.1107	7.0821	0.25237	0.6869:0.0:0.3131:0.0	.	311	Q9UNX4	WDR3_HUMAN	E	311	ENSP00000308179:K311E	ENSP00000308179:K311E	K	+	1	0	WDR3	118285935	1.000000	0.71417	0.999000	0.59377	0.991000	0.79684	1.877000	0.39598	0.912000	0.36772	0.528000	0.53228	AAA		0.323	WDR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033720.2	NM_006784		11	26	0	0	0	1	0	11	26					G	118484412	A	G	118484412	3	3	132	1	0	0	0	0	1	0	0	0	17282	131	5	4	961	4	WDR3	1	118484412	Missense_Mutation	SNP	A	TCGA-EJ-A7NM-01A-21D-A33T-08	5959169	118484412	130766209	6	6713											
HFE2	148738	broad.mit.edu	37	chr1	145414854	145414854	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caactctaagcactctcactCtcctgctgctcctctgtgga	7	12	6	16	0	4	0	1	0	4	0	7	1	5	1	2	1	4	3	2	1	2	1			TCGA-EJ-A7NM-01A-21D-A33T-08	TCGA-EJ-A7NM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da5750e6-fb1c-4bd9-9fc7-fa93504b0690	0892efc4-b6f5-47e3-befe-b685ebb7d359	g.chr1:145414854C>A	ENST00000336751.5	+	2	311	c.73C>A	c.(73-75)Ctc>Atc	p.L25I	HFE2_ENST00000357836.5_Intron|HFE2_ENST00000497365.1_Intron|HFE2_ENST00000475797.1_Intron	NM_213653.3	NP_998818.1	Q6ZVN8	RGMC_HUMAN	hemochromatosis type 2 (juvenile)	25					axon guidance (GO:0007411)|BMP signaling pathway (GO:0030509)|iron ion homeostasis (GO:0055072)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	coreceptor activity (GO:0015026)			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)	14	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					CACTCTCACTCTCCTGCTGCT	0.602																																						ENST00000336751.5																			0				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)	14						c.(73-75)Ctc>Atc		hemochromatosis type 2 (juvenile)							106	89	95					1																	145414854		2203	4300	6503	SO:0001583	missense	148738				axon guidance	anchored to membrane		g.chr1:145414854C>A	AY372521	CCDS72877.1, CCDS72878.1, CCDS72879.1	1q21.2	2014-06-26			ENSG00000168509	ENSG00000168509			4887	protein-coding gene	gene with protein product	"repulsive guidance molecule c"	608374				10205270, 14647275	Standard	NM_213653		Approved	JH, HFE2A, RGMC, HJV, hemojuvelin, haemojuvelin	uc001eni.2	Q6ZVN8	OTTHUMG00000013748	ENST00000336751.5:c.73C>A	1.37:g.145414854C>A	ENSP00000337014:p.Leu25Ile					HFE2_ENST00000357836.5_Intron|HFE2_ENST00000497365.1_Intron|HFE2_ENST00000475797.1_Intron	p.L25I	NM_213653.3	NP_998818.1	Q6ZVN8	RGMC_HUMAN			2	311	+	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		25					B1ALI7|Q2PQ63|Q6IMF6|Q8NAH2|Q8WVJ5	Missense_Mutation	SNP	ENST00000336751.5	37	c.73C>A	CCDS910.1	.	.	.	.	.	.	.	.	.	.	C	17.41	3.383039	0.61845	.	.	ENSG00000168509	ENST00000421822;ENST00000336751	D;D	0.94046	-2.4;-3.34	5.7	5.7	0.88788	Repulsive guidance molecule, N-terminal (1);	0.126422	0.34986	N	0.003537	D	0.93989	0.8075	L	0.59436	1.845	0.80722	D	1	D	0.69078	0.997	D	0.79108	0.992	D	0.91438	0.5171	10	0.15066	T	0.55	-0.0471	15.3599	0.74464	0.0:1.0:0.0:0.0	.	25	Q6ZVN8	RGMC_HUMAN	I	25	ENSP00000411863:L25I;ENSP00000337014:L25I	ENSP00000337014:L25I	L	+	1	0	HFE2	144126211	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.263000	0.33004	2.703000	0.92315	0.580000	0.79431	CTC		0.602	HFE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038527.1	NM_145277		4	74	1	0	1.23904e-05	1	1.31192e-05	4	74					A	145414854	C	A	145414854	3	1	132	1	0	0	0	0	1	0	0	0	7082	913	32	5	75	5	HFE2	1	145414854	Missense_Mutation	SNP	C	TCGA-EJ-A7NM-01A-21D-A33T-08	26930442	145414854	103835767	7	6714											
C1orf51	148523	broad.mit.edu	37	chr1	150259073	150259073	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtcctttaggcactggaaccGgcattggcgtcattcttttc	6	14	10	11	2	2	0	1	0	1	0	4	1	3	1	2	4	1	2	2	4	2	6	rs147269137		TCGA-EJ-A7NM-01A-21D-A33T-08	TCGA-EJ-A7NM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da5750e6-fb1c-4bd9-9fc7-fa93504b0690	0892efc4-b6f5-47e3-befe-b685ebb7d359	g.chr1:150259073G>A	ENST00000290363.5	+	5	1314	c.865G>A	c.(865-867)Ggc>Agc	p.G289S	C1orf51_ENST00000369095.1_Missense_Mutation_p.G289S|C1orf51_ENST00000369094.1_Missense_Mutation_p.G201S	NM_144697.2	NP_653298.1	Q8N365	CIART_HUMAN		289					circadian regulation of gene expression (GO:0032922)|locomotor rhythm (GO:0045475)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|E-box binding (GO:0070888)			endometrium(3)|large_intestine(2)|lung(3)|urinary_tract(2)	10	Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			CACTGGAACCGGCATTGGCGT	0.552																																						ENST00000290363.5																			0				endometrium(3)|large_intestine(2)|lung(3)|urinary_tract(2)	10						c.(865-867)Ggc>Agc		chromosome 1 open reading frame 51		G	SER/GLY	0,4406		0,0,2203	219	185	196		865	3.2	1	1	dbSNP_134	196	1,8599	1.2+/-3.3	0,1,4299	no	missense	C1orf51	NM_144697.2	56	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	289/386	150259073	1,13005	2203	4300	6503	SO:0001583	missense	148523							g.chr1:150259073G>A																												ENST00000290363.5:c.865G>A	1.37:g.150259073G>A	ENSP00000290363:p.Gly289Ser					C1orf51_ENST00000369095.1_Missense_Mutation_p.G289S|C1orf51_ENST00000369094.1_Missense_Mutation_p.G201S	p.G289S	NM_144697.2	NP_653298.1	Q8N365	CA051_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		5	1314	+	Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		289					B2RD43|D3DV01|Q8N795|Q96MG6	Missense_Mutation	SNP	ENST00000290363.5	37	c.865G>A	CCDS949.1	.	.	.	.	.	.	.	.	.	.	G	0.058	-1.231149	0.01518	0.0	1.16E-4	ENSG00000159208	ENST00000447007;ENST00000369095;ENST00000369094;ENST00000417398;ENST00000290363	.	.	.	5.51	3.23	0.37069	.	0.487638	0.23072	N	0.052244	T	0.01287	0.0042	N	0.00197	-1.87	0.25573	N	0.986875	B	0.06786	0.001	B	0.09377	0.004	T	0.47045	-0.9147	9	0.02654	T	1	-0.5123	6.5352	0.22350	0.7233:0.0:0.2767:0.0	.	289	Q8N365	CA051_HUMAN	S	201;289;201;201;289	.	ENSP00000290363:G289S	G	+	1	0	C1orf51	148525697	0.997000	0.39634	1.000000	0.80357	0.115000	0.19883	1.519000	0.35888	0.542000	0.28846	-0.367000	0.07326	GGC		0.552	C1orf51-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000035058.1			5	156	0	0	0	1	0	5	156					A	150259073	G	A	150259073	3	1	132	1	0	0	0	0	1	0	0	0	2043	1116	39	2	883	2	C1orf51	1	150259073	Missense_Mutation	SNP	G	TCGA-EJ-A7NM-01A-21D-A33T-08	4844219	150259073	98991548	8	6715											
PYHIN1	149628	broad.mit.edu	37	chr1	158943542	158943542	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	acacttccaccaaccgccatCcagcagttccttaaataagg	13	8	5	15	1	0	0	0	0	0	0	3	0	3	0	6	1	2	2	6	1	4	4			TCGA-EJ-A7NM-01A-21D-A33T-08	TCGA-EJ-A7NM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da5750e6-fb1c-4bd9-9fc7-fa93504b0690	0892efc4-b6f5-47e3-befe-b685ebb7d359	g.chr1:158943542C>A	ENST00000368140.1	+	8	1710	c.1465C>A	c.(1465-1467)Cca>Aca	p.P489T	PYHIN1_ENST00000368138.3_Missense_Mutation_p.P480T|PYHIN1_ENST00000392252.3_Intron|PYHIN1_ENST00000392254.2_Intron	NM_152501.4|NM_198928.4|NM_198929.4	NP_689714.2|NP_945146.1|NP_945147.1	Q6K0P9	IFIX_HUMAN	pyrin and HIN domain family, member 1	489					cell cycle (GO:0007049)	nucleus (GO:0005634)				breast(2)|endometrium(3)|large_intestine(10)|lung(32)|ovary(3)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(112;0.0378)					CAACCGCCATCCAGCAGTTCC	0.448																																						ENST00000368140.1																			0				breast(2)|endometrium(3)|large_intestine(10)|lung(32)|ovary(3)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						c.(1465-1467)Cca>Aca		pyrin and HIN domain family, member 1							133	121	125					1																	158943542		2203	4300	6503	SO:0001583	missense	149628				cell cycle	nuclear speck		g.chr1:158943542C>A	AY185344	CCDS1178.1, CCDS1179.1, CCDS30907.1, CCDS30908.1	1q23.1	2008-02-05			ENSG00000163564	ENSG00000163564			28894	protein-coding gene	gene with protein product		612677				15122330	Standard	NM_152501		Approved	IFIX, MGC23885	uc001ftb.3	Q6K0P9	OTTHUMG00000037109	ENST00000368140.1:c.1465C>A	1.37:g.158943542C>A	ENSP00000357122:p.Pro489Thr					PYHIN1_ENST00000392252.3_Intron|PYHIN1_ENST00000368138.3_Missense_Mutation_p.P480T|PYHIN1_ENST00000392254.2_Intron	p.P489T	NM_152501.4|NM_198928.4|NM_198929.4	NP_689714.2|NP_945146.1|NP_945147.1	Q6K0P9	IFIX_HUMAN			8	1710	+	all_hematologic(112;0.0378)		489					Q5T3W6|Q6K0P6|Q6K0P7|Q6K0P8|Q8WW65	Missense_Mutation	SNP	ENST00000368140.1	37	c.1465C>A	CCDS1178.1	.	.	.	.	.	.	.	.	.	.	C	11.84	1.759239	0.31137	.	.	ENSG00000163564	ENST00000368140;ENST00000368138	T;T	0.06294	3.34;3.32	1.82	-0.2	0.13216	.	.	.	.	.	T	0.01489	0.0048	N	0.19112	0.55	0.09310	N	0.999998	D;P	0.53885	0.963;0.937	B;B	0.43809	0.432;0.249	T	0.44065	-0.9352	9	0.87932	D	0	.	4.0943	0.09983	0.0:0.5903:0.0:0.4097	.	480;489	Q6K0P9-2;Q6K0P9	.;IFIX_HUMAN	T	489;480	ENSP00000357122:P489T;ENSP00000357120:P480T	ENSP00000357120:P480T	P	+	1	0	PYHIN1	157210166	0.000000	0.05858	0.036000	0.18154	0.308000	0.27856	-1.821000	0.01713	-0.059000	0.13154	0.558000	0.71614	CCA		0.448	PYHIN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000090110.1	NM_152501		16	90	1	0	6.94344e-10	1	7.62085e-10	16	90					A	158943542	C	A	158943542	3	1	132	1	0	0	0	0	1	0	0	0	12865	855	30	5	1491	5	PYHIN1	1	158943542	Missense_Mutation	SNP	C	TCGA-EJ-A7NM-01A-21D-A33T-08	8684469	158943542	90307079	9	6716											
ATP1A4	480	broad.mit.edu	37	chr1	160134025	160134025	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tccctgacgtcaggcctggcGgttggccagacacctatcgc	6	8	12	15	3	1	2	1	1	0	1	3	2	2	2	4	4	0	1	4	4	1	2	rs369914363		TCGA-EJ-A7NM-01A-21D-A33T-08	TCGA-EJ-A7NM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da5750e6-fb1c-4bd9-9fc7-fa93504b0690	0892efc4-b6f5-47e3-befe-b685ebb7d359	g.chr1:160134025G>A	ENST00000368081.4	+	7	1329	c.858G>A	c.(856-858)gcG>gcA	p.A286A		NM_144699.3	NP_653300.2	Q13733	AT1A4_HUMAN	ATPase, Na+/K+ transporting, alpha 4 polypeptide	286					ATP biosynthetic process (GO:0006754)|ATP hydrolysis coupled proton transport (GO:0015991)|fertilization (GO:0009566)|ion transmembrane transport (GO:0034220)|potassium ion transport (GO:0006813)|regulation of cellular pH (GO:0030641)|regulation of membrane potential (GO:0042391)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|sodium:potassium-exchanging ATPase complex (GO:0005890)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|sodium:potassium-exchanging ATPase activity (GO:0005391)			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(34)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	75	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			CAGGCCTGGCGGTTGGCCAGA	0.557																																						ENST00000368081.4																			0				breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(34)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	75						c.(856-858)gcG>gcA		ATPase, Na+/K+ transporting, alpha 4 polypeptide		G		0,4406		0,0,2203	207	169	182		858	-9.1	0	1		182	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	ATP1A4	NM_144699.3		0,2,6501	AA,AG,GG		0.0233,0.0,0.0154		286/1030	160134025	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	480				ATP biosynthetic process|ATP hydrolysis coupled proton transport|regulation of cellular pH|sperm motility	sodium:potassium-exchanging ATPase complex	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity	g.chr1:160134025G>A	BC028297	CCDS1197.1, CCDS44255.1	1q23.2	2012-10-22	2002-02-25		ENSG00000132681	ENSG00000132681		"ATPases / P-type"	14073	protein-coding gene	gene with protein product	"sodium/potassium-transporting ATPase subunit alpha-4", "sodium pump subunit alpha-4", "sodium-potassium ATPase catalytic subunit alpha-4"	607321	"ATPase, Na+/K+ transporting, alpha polypeptide-like 2"	ATP1AL2		1981991, 3035563	Standard	NM_144699		Approved		uc001fve.4	Q13733	OTTHUMG00000031609	ENST00000368081.4:c.858G>A	1.37:g.160134025G>A							p.A286A	NM_144699.3	NP_653300.2	Q13733	AT1A4_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)		7	1329	+	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		286					Q504T2|Q7Z4I9|Q8TBN8|Q8WXA7|Q8WXH7|Q8WY13	Silent	SNP	ENST00000368081.4	37	c.858G>A	CCDS1197.1																																																																																				0.557	ATP1A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077415.1	NM_144699		27	105	0	0	0	1	0	27	105					A	160134025	G	A	160134025	2	1	132	1	0	0	0	0	0	0	0	1	1131	1103	39	2		2	ATP1A4	1	160134025	Silent	SNP	G	TCGA-EJ-A7NM-01A-21D-A33T-08	1190483	160134025	89116596	10	6717											
FCGR2B	2213	broad.mit.edu	37	chr1	161642793	161642793	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtgctccagacccctcacctGgagttccaggagggagaaac	10	6	12	13	0	1	2	1	0	0	2	3	5	3	4	5	3	2	2	5	3	1	1	rs373559875		TCGA-EJ-A7NM-01A-21D-A33T-08	TCGA-EJ-A7NM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da5750e6-fb1c-4bd9-9fc7-fa93504b0690	0892efc4-b6f5-47e3-befe-b685ebb7d359	g.chr1:161642793G>T	ENST00000358671.5	+	4	501	c.420G>T	c.(418-420)ctG>ctT	p.L140L	FCGR2B_ENST00000367961.4_Silent_p.L133L|FCGR2B_ENST00000236937.9_Silent_p.L140L|FCGR2B_ENST00000428605.2_Silent_p.L140L|RP11-25K21.1_ENST00000453111.1_RNA|FCGR2B_ENST00000367960.5_Silent_p.L133L|FCGR2B_ENST00000403078.3_Silent_p.L140L|FCGR2B_ENST00000367962.4_Silent_p.L140L	NM_001002275.2|NM_004001.4	NP_001002275.1|NP_003992.3	P31994	FCG2B_HUMAN	Fc fragment of IgG, low affinity IIb, receptor (CD32)	140	Ig-like C2-type 2.				immune response (GO:0006955)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)|viral process (GO:0016032)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)						all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Antithymocyte globulin(DB00098)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Intravenous Immunoglobulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	CCCCTCACCTGGAGTTCCAGG	0.532			T	?	ALL																																	ENST00000367962.4				Dom	yes		1	1q23	2213	T	"Fc fragment of IgG, low affinity IIb, receptor for (CD32)"			L	?		ALL		0											c.(418-420)ctG>ctT		Fc fragment of IgG, low affinity IIb, receptor (CD32)	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)						15	20	18					1																	161642793		2166	4295	6461	SO:0001819	synonymous_variant	2213				immune response|interspecies interaction between organisms|regulation of immune response	integral to membrane|plasma membrane	IgG binding|receptor activity	g.chr1:161642793G>T	BC031992	CCDS30924.1, CCDS30925.1, CCDS53414.1	1q23	2013-01-11	2005-02-02		ENSG00000072694	ENSG00000072694		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	3618	protein-coding gene	gene with protein product		604590	"Fc fragment of IgG, low affinity IIb, receptor for (CD32)"	FCG2, FCGR2		2139735	Standard	NM_004001		Approved	CD32, CD32B	uc001gaz.2	P31994	OTTHUMG00000034470	ENST00000358671.5:c.420G>T	1.37:g.161642793G>T						RP11-25K21.1_ENST00000453111.1_RNA|FCGR2B_ENST00000358671.5_Silent_p.L140L|FCGR2B_ENST00000236937.9_Silent_p.L140L|FCGR2B_ENST00000367961.4_Silent_p.L133L|FCGR2B_ENST00000428605.2_Silent_p.L140L|FCGR2B_ENST00000403078.3_Silent_p.L140L|FCGR2B_ENST00000367960.5_Silent_p.L133L	p.L140L			P31994	FCG2B_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00376)		4	547	+	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		140			Ig-like C2-type 2.		A6H8N3|O95649|Q53X85|Q5VXA9|Q8NIA1	Silent	SNP	ENST00000358671.5	37	c.420G>T	CCDS30924.1																																																																																				0.532	FCGR2B-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000083337.4	NM_004001		4	35	1	0	3.59834e-05	1	3.7657e-05	4	35					T	161642793	G	T	161642793	2	4	132	1	0	0	0	0	0	0	0	1	5782	1335	47	5		5	FCGR2B	1	161642793	Silent	SNP	G	TCGA-EJ-A7NM-01A-21D-A33T-08	1508768	161642793	87607828	11	6718											
ACTA1	58	broad.mit.edu	37	chr1	229568848	229568848	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacacgagggcggtggtctcGtcttcgtcgcacattgtgtc	5	11	13	12	5	2	0	0	0	2	0	6	1	2	0	0	3	0	1	0	3	0	2			TCGA-EJ-A7NM-01A-21D-A33T-08	TCGA-EJ-A7NM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da5750e6-fb1c-4bd9-9fc7-fa93504b0690	0892efc4-b6f5-47e3-befe-b685ebb7d359	g.chr1:229568848G>T	ENST00000366684.3	-	2	117	c.15C>A	c.(13-15)gaC>gaA	p.D5E	ACTA1_ENST00000366683.2_Missense_Mutation_p.D5E	NM_001100.3	NP_001091.1	P68133	ACTS_HUMAN	actin, alpha 1, skeletal muscle	5					cell growth (GO:0016049)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|response to extracellular stimulus (GO:0009991)|response to lithium ion (GO:0010226)|response to mechanical stimulus (GO:0009612)|response to steroid hormone (GO:0048545)|skeletal muscle fiber adaptation (GO:0043503)|skeletal muscle fiber development (GO:0048741)|skeletal muscle thin filament assembly (GO:0030240)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|blood microparticle (GO:0072562)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|striated muscle thin filament (GO:0005865)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|myosin binding (GO:0017022)|structural constituent of cytoskeleton (GO:0005200)	p.D5D(1)		endometrium(4)|large_intestine(4)|lung(18)|prostate(1)|urinary_tract(1)	28	Breast(184;0.0858)|Ovarian(103;0.103)	Prostate(94;0.167)				CGGTGGTCTCGTCTTCGTCGC	0.657																																						ENST00000366684.3																			1	Substitution - coding silent(1)	p.D5D(1)	endometrium(1)	endometrium(4)|large_intestine(4)|lung(18)|prostate(1)|urinary_tract(1)	28						c.(13-15)gaC>gaA		actin, alpha 1, skeletal muscle	Dornase Alfa(DB00003)						64	66	65					1																	229568848		2203	4300	6503	SO:0001583	missense	58				muscle filament sliding|skeletal muscle fiber development|skeletal muscle thin filament assembly	actin filament|cytosol|stress fiber|striated muscle thin filament	ADP binding|ATP binding|myosin binding|structural constituent of cytoskeleton	g.chr1:229568848G>T	J00068	CCDS1578.1	1q42.13	2014-09-17			ENSG00000143632	ENSG00000143632			129	protein-coding gene	gene with protein product	"nemaline myopathy type 3"	102610		ACTA		10072583, 6865942	Standard	NM_001100		Approved	NEM3	uc001htm.3	P68133	OTTHUMG00000038006	ENST00000366684.3:c.15C>A	1.37:g.229568848G>T	ENSP00000355645:p.Asp5Glu					ACTA1_ENST00000366683.2_Missense_Mutation_p.D5E	p.D5E	NM_001100.3	NP_001091.1	P68133	ACTS_HUMAN			2	117	-	Breast(184;0.0858)|Ovarian(103;0.103)	Prostate(94;0.167)	5					P02568|P99020|Q5T8M9	Missense_Mutation	SNP	ENST00000366684.3	37	c.15C>A	CCDS1578.1	.	.	.	.	.	.	.	.	.	.	G	9.163	1.019279	0.19355	.	.	ENSG00000143632	ENST00000366684;ENST00000308794;ENST00000366683;ENST00000366682;ENST00000342787	D;D	0.97279	-4.32;-3.48	4.77	1.62	0.23740	.	0.345104	0.29286	N	0.012589	D	0.86628	0.5978	N	0.04018	-0.295	0.22873	N	0.998628	B	0.02656	0.0	B	0.04013	0.001	T	0.76476	-0.2945	10	0.05721	T	0.95	.	4.0372	0.09735	0.2515:0.3782:0.3702:0.0	.	5	P68133	ACTS_HUMAN	E	5	ENSP00000355645:D5E;ENSP00000355644:D5E	ENSP00000312351:D5E	D	-	3	2	ACTA1	227635471	0.142000	0.22610	1.000000	0.80357	0.904000	0.53231	-0.530000	0.06179	0.611000	0.30052	-0.175000	0.13238	GAC		0.657	ACTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092781.1	NM_001100		38	93	1	0	3.77016e-25	1	4.24143e-25	38	93					T	229568848	G	T	229568848	3	4	132	1	0	0	0	0	1	0	0	0	191	1136	40	5	1142	5	ACTA1	1	229568848	Missense_Mutation	SNP	G	TCGA-EJ-A7NM-01A-21D-A33T-08	67926055	229568848	19681773	12	6719											
SIPA1L2	57568	broad.mit.edu	37	chr1	232600814	232600814	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcaatgtcagcagactggccGaagtcccgggctatcacgtg	9	8	12	12	3	3	1	3	0	0	1	4	2	4	1	2	2	1	2	2	2	3	1	rs376260317		TCGA-EJ-A7NM-01A-21D-A33T-08	TCGA-EJ-A7NM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da5750e6-fb1c-4bd9-9fc7-fa93504b0690	0892efc4-b6f5-47e3-befe-b685ebb7d359	g.chr1:232600814G>A	ENST00000366630.1	-	8	2950	c.2592C>T	c.(2590-2592)ttC>ttT	p.F864F	SIPA1L2_ENST00000308942.4_5'Flank|SIPA1L2_ENST00000262861.4_Silent_p.F864F			Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like 2	864					regulation of small GTPase mediated signal transduction (GO:0051056)		GTPase activator activity (GO:0005096)			NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				CAGACTGGCCGAAGTCCCGGG	0.473																																						ENST00000366630.1																			0				NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103						c.(2590-2592)ttC>ttT		signal-induced proliferation-associated 1 like 2		G		0,3936		0,0,1968	103	102	102		2592	-2.1	1	1		102	1,8291		0,1,4145	no	coding-synonymous	SIPA1L2	NM_020808.3		0,1,6113	AA,AG,GG		0.0121,0.0,0.0082		864/1723	232600814	1,12227	1968	4146	6114	SO:0001819	synonymous_variant	57568				regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity	g.chr1:232600814G>A	AB037810	CCDS41474.1	1q42.2	2008-02-05			ENSG00000116991	ENSG00000116991			23800	protein-coding gene	gene with protein product		611609					Standard	NM_020808		Approved	KIAA1389	uc001hvg.3	Q9P2F8	OTTHUMG00000037820	ENST00000366630.1:c.2592C>T	1.37:g.232600814G>A						SIPA1L2_ENST00000262861.4_Silent_p.F864F	p.F864F			Q9P2F8	SI1L2_HUMAN			8	2950	-		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)	864					Q2TV88|Q5VXR7|Q5VXR8|Q641Q4|Q8NA38|Q96DZ3|Q9H9F6	Silent	SNP	ENST00000366630.1	37	c.2592C>T	CCDS41474.1																																																																																				0.473	SIPA1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092318.1	XM_045839		4	122	0	0	0	1	0	4	122					A	232600814	G	A	232600814	2	1	132	1	0	0	0	0	0	0	0	1	14330	1049	37	2		2	SIPA1L2	1	232600814	Silent	SNP	G	TCGA-EJ-A7NM-01A-21D-A33T-08	3031966	232600814	16649807	13	6720											
FAM179A	165186	broad.mit.edu	37	chr2	29247231	29247231	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctggtggtcctcacctcggCgggtgtctagtatgtggctg	3	12	15	11	2	2	0	1	0	1	0	4	0	3	0	3	5	0	2	3	5	2	2	rs373300546		TCGA-EJ-A7NM-01A-21D-A33T-08	TCGA-EJ-A7NM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da5750e6-fb1c-4bd9-9fc7-fa93504b0690	0892efc4-b6f5-47e3-befe-b685ebb7d359	g.chr2:29247231C>T	ENST00000379558.4	+	13	2195	c.1844C>T	c.(1843-1845)gCg>gTg	p.A615V	FAM179A_ENST00000465300.1_3'UTR|FAM179A_ENST00000403861.2_Missense_Mutation_p.A560V	NM_199280.2	NP_954974.2	Q6ZUX3	F179A_HUMAN	family with sequence similarity 179, member A	615										breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						CTCACCTCGGCGGGTGTCTAG	0.617																																						ENST00000379558.4																			0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						c.(1843-1845)gCg>gTg		family with sequence similarity 179, member A		C	VAL/ALA	0,4024		0,0,2012	32	33	32		1844	3.1	0.1	2		32	1,8369		0,1,4184	no	missense	FAM179A	NM_199280.2	64	0,1,6196	TT,TC,CC		0.0119,0.0,0.0081	benign	615/1020	29247231	1,12393	2012	4185	6197	SO:0001583	missense	165186						binding	g.chr2:29247231C>T	AK125239, AK125744	CCDS1769.2	2p23.2	2008-10-30			ENSG00000189350	ENSG00000189350			33715	protein-coding gene	gene with protein product						16344560	Standard	NM_199280		Approved	FLJ43249, LOC165186	uc010ezl.3	Q6ZUX3	OTTHUMG00000128432	ENST00000379558.4:c.1844C>T	2.37:g.29247231C>T	ENSP00000368876:p.Ala615Val					FAM179A_ENST00000403861.2_Missense_Mutation_p.A560V|FAM179A_ENST00000465300.1_3'UTR	p.A615V	NM_199280.2	NP_954974.2	Q6ZUX3	F179A_HUMAN			13	2195	+			615					Q6ZUF5	Missense_Mutation	SNP	ENST00000379558.4	37	c.1844C>T	CCDS1769.2	.	.	.	.	.	.	.	.	.	.	C	10.15	1.270616	0.23221	0.0	1.19E-4	ENSG00000189350	ENST00000401723;ENST00000379558;ENST00000403861;ENST00000440012	T;T;T;T	0.14391	2.51;2.51;2.51;2.51	4.99	3.13	0.36017	Armadillo-like helical (1);Armadillo-type fold (1);CLASP N-terminal domain (1);	0.289012	0.29551	N	0.011832	T	0.07863	0.0197	L	0.29908	0.895	0.09310	N	0.999994	B;B	0.22211	0.054;0.066	B;B	0.14578	0.007;0.011	T	0.26538	-1.0100	10	0.27082	T	0.32	.	3.5981	0.08014	0.1264:0.4256:0.3467:0.1013	.	560;615	F8W8E4;Q6ZUX3	.;F179A_HUMAN	V	50;615;560;110	ENSP00000384897:A50V;ENSP00000368876:A615V;ENSP00000384699:A560V;ENSP00000396739:A110V	ENSP00000368876:A615V	A	+	2	0	FAM179A	29100735	0.007000	0.16637	0.069000	0.20011	0.256000	0.26092	0.830000	0.27462	1.087000	0.41251	0.462000	0.41574	GCG		0.617	FAM179A-003	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317848.4	NM_199280		4	14	0	0	0	1	0	4	14					T	29247231	C	T	29247231	3	4	132	1	0	0	0	0	1	0	0	0	5505	768	27	1	1890	1	FAM179A	2	29247231	Missense_Mutation	SNP	C	TCGA-EJ-A7NM-01A-21D-A33T-08		29247231	213952142	14	6721											
CEBPZ	10153	broad.mit.edu	37	chr2	37455178	37455178	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tctcccagtttatttaccacTtgcacaagaagagccttttc	10	14	5	12	0	1	2	0	0	1	2	3	2	1	2	3	0	3	2	3	0	4	7			TCGA-EJ-A7NM-01A-21D-A33T-08	TCGA-EJ-A7NM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da5750e6-fb1c-4bd9-9fc7-fa93504b0690	0892efc4-b6f5-47e3-befe-b685ebb7d359	g.chr2:37455178T>G	ENST00000234170.5	-	2	1303	c.1158A>C	c.(1156-1158)caA>caC	p.Q386H		NM_005760.2	NP_005751.2	Q03701	CEBPZ_HUMAN	CCAAT/enhancer binding protein (C/EBP), zeta	386					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			breast(3)|endometrium(2)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28		all_hematologic(82;0.21)				TATTTACCACTTGCACAAGAA	0.413																																						ENST00000234170.5																			0				breast(3)|endometrium(2)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28						c.(1156-1158)caA>caC		CCAAT/enhancer binding protein (C/EBP), zeta							105	110	108					2																	37455178		2203	4300	6503	SO:0001583	missense	10153				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding	g.chr2:37455178T>G	M37197	CCDS1787.1	2p22.3	2008-09-03	2008-09-03		ENSG00000115816	ENSG00000115816			24218	protein-coding gene	gene with protein product		612828				2247079, 12534345	Standard	NM_005760		Approved	CBF2, CTF2	uc002rpz.3	Q03701	OTTHUMG00000100960	ENST00000234170.5:c.1158A>C	2.37:g.37455178T>G	ENSP00000234170:p.Gln386His						p.Q386H	NM_005760.2	NP_005751.2	Q03701	CEBPZ_HUMAN			2	1303	-		all_hematologic(82;0.21)	386					Q8NE75	Missense_Mutation	SNP	ENST00000234170.5	37	c.1158A>C	CCDS1787.1	.	.	.	.	.	.	.	.	.	.	T	2.975	-0.211657	0.06140	.	.	ENSG00000115816	ENST00000234170;ENST00000545744	T	0.12879	2.64	5.31	-1.88	0.07713	Armadillo-type fold (1);	0.120500	0.64402	D	0.000020	T	0.11452	0.0279	L	0.57536	1.79	0.39380	D	0.966243	B	0.20550	0.046	B	0.18871	0.023	T	0.07558	-1.0766	10	0.40728	T	0.16	.	7.1889	0.25814	0.0:0.4238:0.1092:0.467	.	386	Q03701	CEBPZ_HUMAN	H	386	ENSP00000234170:Q386H	ENSP00000234170:Q386H	Q	-	3	2	CEBPZ	37308682	0.654000	0.27367	0.980000	0.43619	0.685000	0.39939	-0.090000	0.11163	-0.457000	0.07033	-1.357000	0.01221	CAA		0.413	CEBPZ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218569.2	NM_005760		39	95	0	0	0	1	0	39	95					G	37455178	T	G	37455178	3	3	132	1	0	0	0	0	1	0	0	0	3204	1606	56	5	2066	5	CEBPZ	2	37455178	Missense_Mutation	SNP	T	TCGA-EJ-A7NM-01A-21D-A33T-08	8207947	37455178	205744195	15	6722											
ERMN	57471	broad.mit.edu	37	chr2	158181230	158181230	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agtttcttggagagaaagatCtgtgatagccttatgaacaa	14	12	10	5	0	2	4	0	2	2	2	2	6	2	5	1	1	2	1	1	1	5	4			TCGA-EJ-A7NM-01A-21D-A33T-08	TCGA-EJ-A7NM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da5750e6-fb1c-4bd9-9fc7-fa93504b0690	0892efc4-b6f5-47e3-befe-b685ebb7d359	g.chr2:158181230C>T	ENST00000410096.1	-	2	577	c.286G>A	c.(286-288)Gat>Aat	p.D96N	ERMN_ENST00000397283.2_Missense_Mutation_p.D109N|ERMN_ENST00000420719.2_Intron|ERMN_ENST00000409925.1_Missense_Mutation_p.D96N|ERMN_ENST00000409216.1_Missense_Mutation_p.D96N|ERMN_ENST00000535935.1_5'UTR	NM_020711.1	NP_065762.1	Q8TAM6	ERMIN_HUMAN	ermin, ERM-like protein	96					actin filament organization (GO:0007015)|morphogenesis of a branching structure (GO:0001763)|regulation of cell projection organization (GO:0031344)|regulation of cell shape (GO:0008360)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|internode region of axon (GO:0033269)|myelin sheath (GO:0043209)|neuronal cell body (GO:0043025)|paranode region of axon (GO:0033270)				endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	12						AGAGAAAGATCTGTGATAGCC	0.303																																						ENST00000410096.1																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	12						c.(286-288)Gat>Aat		ermin, ERM-like protein							123	112	115					2																	158181230		1824	4074	5898	SO:0001583	missense	57471					cytoplasm|cytoskeleton		g.chr2:158181230C>T	AB033015	CCDS42764.1, CCDS46431.1	2q24	2008-02-05	2008-01-15	2008-01-15	ENSG00000136541	ENSG00000136541			29208	protein-coding gene	gene with protein product	"juxtanodin", "ermin"	610072	"KIAA1189"	KIAA1189		16051705, 16421295	Standard	NM_020711		Approved	JN, ERMIN	uc002tzi.3	Q8TAM6	OTTHUMG00000153843	ENST00000410096.1:c.286G>A	2.37:g.158181230C>T	ENSP00000387047:p.Asp96Asn					ERMN_ENST00000535935.1_5'UTR|ERMN_ENST00000397283.2_Missense_Mutation_p.D109N|ERMN_ENST00000420719.2_Intron|ERMN_ENST00000409216.1_Missense_Mutation_p.D96N|ERMN_ENST00000409925.1_Missense_Mutation_p.D96N	p.D96N	NM_020711.1	NP_065762.1	Q8TAM6	ERMIN_HUMAN			2	577	-			96					B4DKA6|Q9ULN1	Missense_Mutation	SNP	ENST00000410096.1	37	c.286G>A	CCDS46431.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.145909	0.77888	.	.	ENSG00000136541	ENST00000410096;ENST00000397283;ENST00000420317;ENST00000411762;ENST00000409216;ENST00000409925;ENST00000419116	T;T	0.52526	0.66;0.66	6.07	4.08	0.47627	.	0.193772	0.36703	N	0.002442	T	0.28267	0.0698	N	0.19112	0.55	0.80722	D	1	B;B	0.22414	0.069;0.069	B;B	0.19946	0.027;0.027	T	0.08806	-1.0704	10	0.29301	T	0.29	-18.5394	6.2414	0.20793	0.0:0.7584:0.0:0.2416	.	109;96	Q8TAM6-2;Q8TAM6	.;ERMIN_HUMAN	N	96;109;96;96;96;96;93	ENSP00000387049:D96N;ENSP00000387325:D96N	ENSP00000380453:D109N	D	-	1	0	ERMN	157889476	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	1.018000	0.30002	1.584000	0.49913	-0.137000	0.14449	GAT		0.303	ERMN-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332659.1	NM_001009959		9	32	0	0	0	1	0	9	32					T	158181230	C	T	158181230	3	4	132	1	0	0	0	0	1	0	0	0	5235	913	32	3	576	3	ERMN	2	158181230	Missense_Mutation	SNP	C	TCGA-EJ-A7NM-01A-21D-A33T-08	120726052	158181230	85018143	16	6723											
TTN	7273	broad.mit.edu	37	chr2	179482528	179482528	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	attggatcagcaactttgacGaagggtgtggctgcacttgg	9	11	14	7	1	1	1	1	1	0	0	1	3	1	2	0	4	3	3	0	4	2	3	rs113350914		TCGA-EJ-A7NM-01A-21D-A33T-08	TCGA-EJ-A7NM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da5750e6-fb1c-4bd9-9fc7-fa93504b0690	0892efc4-b6f5-47e3-befe-b685ebb7d359	g.chr2:179482528G>A	ENST00000591111.1	-	203	42851	c.42627C>T	c.(42625-42627)ttC>ttT	p.F14209F	TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000589907.1_RNA|RP11-171I2.4_ENST00000605334.1_lincRNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342175.6_Silent_p.F6977F|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Silent_p.F6910F|TTN_ENST00000460472.2_Silent_p.F6785F|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342992.6_Silent_p.F13282F|TTN_ENST00000589042.1_Silent_p.F15850F|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000604956.1_RNA			Q8WZ42	TITIN_HUMAN	titin	14209	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CAACTTTGACGAAGGGTGTGG	0.403																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(47548-47550)ttC>ttT		titin							127	119	122					2																	179482528		1920	4131	6051	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179482528G>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.42627C>T	2.37:g.179482528G>A						TTN_ENST00000591111.1_Silent_p.F14209F|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000460472.2_Silent_p.F6785F|TTN_ENST00000359218.5_Silent_p.F6910F|TTN_ENST00000342992.6_Silent_p.F13282F|TTN_ENST00000342175.6_Silent_p.F6977F|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592750.1_RNA	p.F15850F	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		253	47774	-			14209			Fibronectin type-III 15.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	ENST00000591111.1	37	c.47550C>T																																																																																					0.403	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		27	54	0	0	0	1	0	27	54					A	179482528	G	A	179482528	2	1	132	1	0	0	0	0	0	0	0	1	16732	1049	37	2		2	TTN	2	179482528	Silent	SNP	G	TCGA-EJ-A7NM-01A-21D-A33T-08	21301298	179482528	63716845	17	6724											
TTN	7273	broad.mit.edu	37	chr2	179558355	179558355	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cctttaggtggtggttcaacCcttttggaaatggcaacgtg	8	13	12	8	1	1	0	1	0	0	0	1	1	1	1	2	5	2	2	2	5	4	5	rs188251302		TCGA-EJ-A7NM-01A-21D-A33T-08	TCGA-EJ-A7NM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da5750e6-fb1c-4bd9-9fc7-fa93504b0690	0892efc4-b6f5-47e3-befe-b685ebb7d359	g.chr2:179558355C>A	ENST00000591111.1	-	117	30848	c.30624G>T	c.(30622-30624)agG>agT	p.R10208S	TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.R9281S|TTN_ENST00000589042.1_Missense_Mutation_p.R10525S|TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000585451.1_RNA			Q8WZ42	TITIN_HUMAN	titin	0	Glu-rich.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GTGGTTCAACCCTTTTGGAAA	0.289													C|||	1	0.000199681	0	0	5008	,	,		17976	0.001		0	False		,,,				2504	0					ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(31573-31575)agG>agT		titin							57	59	58					2																	179558355		1792	4063	5855	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179558355C>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.30624G>T	2.37:g.179558355C>A	ENSP00000465570:p.Arg10208Ser					TTN_ENST00000591111.1_Missense_Mutation_p.R10208S|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.R9281S|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000592630.1_RNA	p.R10525S	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		119	31799	-			10208			Glu-rich.|Pro-rich.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.31575G>T		2	9.157509157509158E-4	0	0.0	0	0.0	2	0.0034965034965034965	0	0.0	C	16.52	3.145929	0.57044	.	.	ENSG00000155657	ENST00000342992;ENST00000414766;ENST00000473181	T	0.63417	-0.04	5.85	4.79	0.61399	Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);	.	.	.	.	T	0.40297	0.1111	N	0.08118	0	0.80722	D	1	B;B	0.15930	0.0;0.015	B;B	0.18561	0.0;0.022	T	0.38045	-0.9679	9	0.87932	D	0	.	7.667	0.28437	0.1671:0.7405:0.0:0.0924	.	10208;10208	Q8WZ42;Q8WZ42-5	TITIN_HUMAN;.	S	9281;403;35	ENSP00000343764:R9281S	ENSP00000343764:R9281S	R	-	3	2	TTN	179266600	0.983000	0.35010	1.000000	0.80357	0.982000	0.71751	1.690000	0.37711	2.773000	0.95371	0.650000	0.86243	AGG		0.289	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		3	20	1	0	0.004672	1	0.00477818	3	20					A	179558355	C	A	179558355	3	1	132	1	0	0	0	0	1	0	0	0	16732	622	22	5	72930	5	TTN	2	179558355	Missense_Mutation	SNP	C	TCGA-EJ-A7NM-01A-21D-A33T-08	75827	179558355	63641018	18	6725											
PRSS50	29122	broad.mit.edu	37	chr3	46757061	46757061	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ccacagtcagcacccactggGaggcaatgatggtgccggca	10	5	13	13	1	1	1	1	1	0	0	1	2	1	2	3	4	2	3	3	4	1	0			TCGA-EJ-A7NM-01A-21D-A33T-08	TCGA-EJ-A7NM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da5750e6-fb1c-4bd9-9fc7-fa93504b0690	0892efc4-b6f5-47e3-befe-b685ebb7d359	g.chr3:46757061G>A	ENST00000460241.1	-	8	2104	c.434C>T	c.(433-435)tCc>tTc	p.S145F	PRSS50_ENST00000315170.7_Missense_Mutation_p.S145F			Q9UI38	TSP50_HUMAN	protease, serine, 50	145	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				proteolysis (GO:0006508)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)	serine-type endopeptidase activity (GO:0004252)|threonine-type endopeptidase activity (GO:0004298)			endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	11						CACCCACTGGGAGGCAATGAT	0.647																																					Pancreas(41;915 1239 11561 17469)	ENST00000460241.1																			0				endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	11						c.(433-435)tCc>tTc		protease, serine, 50							68	52	57					3																	46757061		2202	4300	6502	SO:0001583	missense	29122				proteolysis	endoplasmic reticulum	serine-type endopeptidase activity|threonine-type endopeptidase activity	g.chr3:46757061G>A	AF100707	CCDS2745.1	3p21.31	2011-05-24			ENSG00000206549	ENSG00000206549		"Serine peptidases / Serine peptidases"	17910	protein-coding gene	gene with protein product	"cancer/testis antigen 20", "testes specific protease 50"	607950				10397268	Standard	NM_013270		Approved	TSP50, CT20	uc003cqe.1	Q9UI38	OTTHUMG00000164067	ENST00000460241.1:c.434C>T	3.37:g.46757061G>A	ENSP00000418875:p.Ser145Phe					PRSS50_ENST00000315170.7_Missense_Mutation_p.S145F	p.S145F			Q9UI38	TSP50_HUMAN			8	2104	-			145			Peptidase S1.			Missense_Mutation	SNP	ENST00000460241.1	37	c.434C>T	CCDS2745.1	.	.	.	.	.	.	.	.	.	.	G	13.53	2.264738	0.40095	.	.	ENSG00000206549	ENST00000455218;ENST00000315170;ENST00000460241	D;D	0.82433	-1.61;-1.61	4.13	2.28	0.28536	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.199434	0.25291	N	0.031732	D	0.86447	0.5935	M	0.68728	2.09	0.31162	N	0.704235	D	0.56521	0.976	P	0.59703	0.862	D	0.84781	0.0773	10	0.62326	D	0.03	.	9.3538	0.38153	0.0:0.0:0.6135:0.3865	.	145	Q9UI38	TSP50_HUMAN	F	59;145;145	ENSP00000326598:S145F;ENSP00000418875:S145F	ENSP00000326598:S145F	S	-	2	0	PRSS50	46732065	0.000000	0.05858	0.681000	0.30009	0.678000	0.39670	-0.199000	0.09491	0.653000	0.30826	0.655000	0.94253	TCC		0.647	PRSS50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354544.1			8	22	0	0	0	1	0	8	22					A	46757061	G	A	46757061	3	1	132	1	0	0	0	0	1	0	0	0	12631	1174	41	3	739	3	PRSS50	3	46757061	Missense_Mutation	SNP	G	TCGA-EJ-A7NM-01A-21D-A33T-08		46757061	151265369	19	6726											
ZPLD1	131368	broad.mit.edu	37	chr3	102171848	102171848	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtacttttctcgggttattcGgaaacagatctggcactgaa	10	13	10	8	2	2	2	0	1	2	1	4	3	2	3	0	3	2	3	0	3	4	5			TCGA-EJ-A7NM-01A-21D-A33T-08	TCGA-EJ-A7NM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da5750e6-fb1c-4bd9-9fc7-fa93504b0690	0892efc4-b6f5-47e3-befe-b685ebb7d359	g.chr3:102171848G>A	ENST00000491959.1	+	10	1074	c.192G>A	c.(190-192)tcG>tcA	p.S64S	ZPLD1_ENST00000466937.1_Silent_p.S64S|ZPLD1_ENST00000306176.1_Silent_p.S80S			Q8TCW7	ZPLD1_HUMAN	zona pellucida-like domain containing 1	64	ZP. {ECO:0000255|PROSITE- ProRule:PRU00375}.					integral component of membrane (GO:0016021)				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(18)|ovary(2)|skin(3)	35						CGGGTTATTCGGAAACAGATC	0.413																																						ENST00000306176.1																			0				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(18)|ovary(2)|skin(3)	35						c.(238-240)tcG>tcA		zona pellucida-like domain containing 1							97	94	95					3																	102171848		2203	4300	6503	SO:0001819	synonymous_variant	131368					integral to membrane		g.chr3:102171848G>A	AY090780	CCDS2947.1	3q12.3	2009-03-25			ENSG00000170044	ENSG00000170044			27022	protein-coding gene	gene with protein product		615915				18632209	Standard	NM_175056		Approved		uc003dvt.1	Q8TCW7	OTTHUMG00000159229	ENST00000491959.1:c.192G>A	3.37:g.102171848G>A						ZPLD1_ENST00000491959.1_Silent_p.S64S|ZPLD1_ENST00000466937.1_Silent_p.S64S	p.S80S	NM_175056.1	NP_778226.1	Q8TCW7	ZPLD1_HUMAN			3	340	+			64			ZP.		Q49AS1|Q8WU36	Silent	SNP	ENST00000491959.1	37	c.240G>A																																																																																					0.413	ZPLD1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000353984.1	NM_175056		22	68	0	0	0	1	0	22	68					A	102171848	G	A	102171848	2	1	132	1	0	0	0	0	0	0	0	1	18218	1103	39	2		2	ZPLD1	3	102171848	Silent	SNP	G	TCGA-EJ-A7NM-01A-21D-A33T-08	55414787	102171848	95850582	20	6727											
UGT2A3	79799	broad.mit.edu	37	chr4	69816966	69816966	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atattgcctcctacagaaatTctaagtgtgagcacaaaagg	15	10	8	8	0	1	2	0	1	1	1	2	2	2	2	2	1	3	1	2	1	6	5	rs372964177		TCGA-EJ-A7NM-01A-21D-A33T-08	TCGA-EJ-A7NM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da5750e6-fb1c-4bd9-9fc7-fa93504b0690	0892efc4-b6f5-47e3-befe-b685ebb7d359	g.chr4:69816966T>A	ENST00000251566.4	-	1	543	c.513A>T	c.(511-513)agA>agT	p.R171S	UGT2A3_ENST00000420231.2_5'UTR	NM_024743.3	NP_079019.3	Q6UWM9	UD2A3_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide A3	171					cellular glucuronidation (GO:0052695)	integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)			NS(1)|breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						CTACAGAAATTCTAAGTGTGA	0.468																																						ENST00000251566.4																			0				NS(1)|breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						c.(511-513)agA>agT		UDP glucuronosyltransferase 2 family, polypeptide A3							56	56	56					4																	69816966		2203	4299	6502	SO:0001583	missense	79799					integral to membrane	glucuronosyltransferase activity	g.chr4:69816966T>A		CCDS3525.1	4q13.2	2010-12-14			ENSG00000135220	ENSG00000135220		"UDP glucuronosyltransferases"	28528	protein-coding gene	gene with protein product							Standard	NM_024743		Approved	FLJ21934	uc003hef.2	Q6UWM9	OTTHUMG00000129408	ENST00000251566.4:c.513A>T	4.37:g.69816966T>A	ENSP00000251566:p.Arg171Ser					UGT2A3_ENST00000420231.2_5'UTR	p.R171S	NM_024743.3	NP_079019.3	Q6UWM9	UD2A3_HUMAN			1	543	-			171					Q9H6S4	Missense_Mutation	SNP	ENST00000251566.4	37	c.513A>T	CCDS3525.1	.	.	.	.	.	.	.	.	.	.	T	16.24	3.066602	0.55539	.	.	ENSG00000135220	ENST00000251566	T	0.63255	-0.03	4.74	-9.48	0.00591	.	0.197551	0.39475	N	0.001348	T	0.60676	0.2287	M	0.63843	1.955	0.18873	N	0.999981	D	0.63046	0.992	D	0.63957	0.92	T	0.60250	-0.7300	10	0.56958	D	0.05	.	3.7272	0.08478	0.0887:0.1755:0.3784:0.3574	.	171	Q6UWM9	UD2A3_HUMAN	S	171	ENSP00000251566:R171S	ENSP00000251566:R171S	R	-	3	2	UGT2A3	69851555	0.000000	0.05858	0.000000	0.03702	0.020000	0.10135	-8.793000	0.00016	-2.406000	0.00574	0.482000	0.46254	AGA		0.468	UGT2A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251564.1	NM_024743		5	34	0	0	0	1	0	5	34					A	69816966	T	A	69816966	3	1	132	1	0	0	0	0	1	0	0	0	16952	1780	62	5	1094	5	UGT2A3	4	69816966	Missense_Mutation	SNP	T	TCGA-EJ-A7NM-01A-21D-A33T-08		69816966	121337310	21	6728											
H2AFZ	3015	broad.mit.edu	37	chr4	100870896	100870896	+	Splice_Site	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctttccagccttaccgccaGcctgcggcgcgcacacgccc	5	6	9	21	5	0	0	0	0	0	0	1	0	1	0	7	1	4	1	7	1	1	2			TCGA-EJ-A7NM-01A-21D-A33T-08	TCGA-EJ-A7NM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da5750e6-fb1c-4bd9-9fc7-fa93504b0690	0892efc4-b6f5-47e3-befe-b685ebb7d359	g.chr4:100870896G>C	ENST00000296417.5	-	2	222	c.5C>G	c.(4-6)gCt>gGt	p.A2G	H2AFZ_ENST00000529158.1_5'UTR|RP11-15B17.1_ENST00000501976.2_RNA|RP11-15B17.1_ENST00000507494.1_RNA|RP11-15B17.1_ENST00000514624.1_RNA	NM_002106.3	NP_002097.1	P0C0S5	H2AZ_HUMAN	H2A histone family, member Z	2	Required for interaction with INCENP. {ECO:0000250}.				cellular response to estradiol stimulus (GO:0071392)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	extracellular vesicular exosome (GO:0070062)|nuclear euchromatin (GO:0005719)|nuclear heterochromatin (GO:0005720)|nucleosome (GO:0000786)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|nucleosomal DNA binding (GO:0031492)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)			breast(1)|endometrium(3)|lung(1)	5				OV - Ovarian serous cystadenocarcinoma(123;2.32e-08)		CTTACCGCCAGCCTGCGGCGC	0.662																																						ENST00000296417.5																			0				breast(1)|endometrium(3)|lung(1)	5						c.e2-1		H2A histone family, member Z							58	67	64					4																	100870896		2203	4300	6503	SO:0001630	splice_region_variant	3015				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr4:100870896G>C	X52317	CCDS3654.1	4q23	2011-01-27			ENSG00000164032	ENSG00000164032		"Histones / Replication-independent"	4741	protein-coding gene	gene with protein product		142763		H2AZ		1697587	Standard	XM_005262971		Approved	H2A.Z	uc003hvo.1	P0C0S5	OTTHUMG00000131048	ENST00000296417.5:c.4-1C>G	4.37:g.100870896G>C						H2AFZ_ENST00000529158.1_5'UTR	p.A2_splice	NM_002106.3	NP_002097.1	P0C0S5	H2AZ_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;2.32e-08)	2	222	-			2			Required for interaction with INCENP (By similarity).		B2RD56|P17317|Q6I9U0	Splice_Site	SNP	ENST00000296417.5	37	c.3_splice	CCDS3654.1	.	.	.	.	.	.	.	.	.	.	G	19.76	3.887877	0.72410	.	.	ENSG00000164032	ENST00000296417	D	0.83837	-1.77	2.51	2.51	0.30379	Histone-fold (1);	0.836455	0.10906	N	0.621121	T	0.77322	0.4113	L	0.28115	0.83	0.80722	D	1	P	0.38711	0.643	B	0.41691	0.364	T	0.76841	-0.2810	10	0.66056	D	0.02	0.789	13.3861	0.60797	0.0:0.0:1.0:0.0	.	2	P0C0S5	H2AZ_HUMAN	G	2	ENSP00000296417:A2G	ENSP00000296417:A2G	A	-	2	0	H2AFZ	101089919	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	8.238000	0.89809	1.419000	0.47118	0.455000	0.32223	GCT		0.662	H2AFZ-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000253695.1	NM_002106	Missense_Mutation	34	61	0	0	0	1	0	34	61					C	100870896	G	C	100870896	5	2	132	1	0	0	0	0	0	0	1	0	6931	985	34	5	397	5	H2AFZ	4	100870896	Splice_Site	SNP	G	TCGA-EJ-A7NM-01A-21D-A33T-08	31053930	100870896	90283380	22	6729											
GYPB	2994	broad.mit.edu	37	chr4	144918703	144918703	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gaattctcacctttatcagtCggcgaatactgtaagaaatt	13	13	7	8	2	2	1	2	0	1	1	4	3	2	1	1	1	1	1	1	1	6	6	rs112711627	byFrequency	TCGA-EJ-A7NM-01A-21D-A33T-08	TCGA-EJ-A7NM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da5750e6-fb1c-4bd9-9fc7-fa93504b0690	0892efc4-b6f5-47e3-befe-b685ebb7d359	g.chr4:144918703C>T	ENST00000502664.1	-	4	311	c.260G>A	c.(259-261)cGa>cAa	p.R87Q	RP11-673E1.4_ENST00000506982.1_RNA|GYPB_ENST00000429670.2_Missense_Mutation_p.D62N|GYPB_ENST00000283126.7_Missense_Mutation_p.R87Q|GYPB_ENST00000513128.1_Missense_Mutation_p.R54Q|GYPB_ENST00000510196.2_5'UTR	NM_002100.4	NP_002091	P06028	GLPB_HUMAN	glycophorin B (MNS blood group)	87						integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				breast(1)|large_intestine(2)|skin(1)	4	all_hematologic(180;0.158)					CTTTATCAGTCGGCGAATACT	0.373													c|||	13	0.00259585	0.0091	0	5008	,	,		16174	0.001		0	False		,,,				2504	0					ENST00000283126.7																			0				breast(1)|large_intestine(2)|skin(1)	4						c.(259-261)cGa>cAa		glycophorin B (MNS blood group)		C	GLN/ARG	50,4334	49.6+/-84.7	4,42,2146	75	81	79		260	-4.7	0	4	dbSNP_132	79	1,8599	1.2+/-3.3	0,1,4299	no	missense	GYPB	NM_002100.4	43	4,43,6445	TT,TC,CC		0.0116,1.1405,0.3928		87/92	144918703	51,12933	2192	4300	6492	SO:0001583	missense	2994							g.chr4:144918703C>T		CCDS54809.1	4q31.21	2014-09-17	2006-02-23			ENSG00000250361		"CD molecules", "Blood group antigens"	4703	protein-coding gene	gene with protein product		111740	"glycophorin B (includes Ss blood group)", "glycophorin B (Ss blood group)"	MNS			Standard	NM_002100		Approved	GPB, SS, CD235b		P06028		ENST00000502664.1:c.260G>A	4.37:g.144918703C>T	ENSP00000427690:p.Arg87Gln					GYPB_ENST00000429670.2_Missense_Mutation_p.D62N|GYPB_ENST00000510196.2_5'UTR|GYPB_ENST00000502664.1_Missense_Mutation_p.R87Q|GYPB_ENST00000513128.1_Missense_Mutation_p.R54Q|RP11-673E1.4_ENST00000506982.1_RNA	p.R87Q							4	315	-	all_hematologic(180;0.158)							B8Q174|E2QBW7|Q0VAF4|Q58HE9|Q58HF0|Q58HF1|Q9UCH7	Missense_Mutation	SNP	ENST00000502664.1	37	c.260G>A	CCDS54809.1	5|5	0.0022893772893772895|0.0022893772893772895	4|4	0.008130081300813009|0.008130081300813009	0|0	0.0|0.0	1|1	0.0017482517482517483|0.0017482517482517483	0|0	0.0|0.0	c|c	10.75|10.75	1.439390|1.439390	0.25900|0.25900	0.011405|0.011405	1.16E-4|1.16E-4	ENSG00000250361|ENSG00000250361	ENST00000429670|ENST00000283126;ENST00000502664;ENST00000513128	T|T;T;T	0.06218|0.35605	3.33|1.3;1.3;1.3	2.35|2.35	-4.69|-4.69	0.03299|0.03299	.|.	.|0.745410	.|0.10840	.|N	.|0.628334	T|T	0.11580|0.11580	0.0282|0.0282	.|.	.|.	.|.	0.09310|0.09310	N|N	1|1	.|P;B	.|0.37864	.|0.61;0.403	.|B;B	.|0.20384	.|0.029;0.017	T|T	0.02053|0.02053	-1.1222|-1.1222	6|9	0.59425|0.66056	D|D	0.04|0.02	.|.	3.3011|3.3011	0.06983|0.06983	0.4876:0.2609:0.0:0.2515|0.4876:0.2609:0.0:0.2515	.|.	.|119;87	.|Q16336;E2QBW7	.|.;.	N|Q	62|87;87;54	ENSP00000394200:D62N|ENSP00000283126:R87Q;ENSP00000427690:R87Q;ENSP00000425244:R54Q	ENSP00000394200:D62N|ENSP00000283126:R87Q	D|R	-|-	1|2	0|0	GYPB|GYPB	145138153|145138153	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.095000|0.095000	0.18619|0.18619	-1.364000|-1.364000	0.02590|0.02590	-2.286000|-2.286000	0.00670|0.00670	0.184000|0.184000	0.17185|0.17185	GAC|CGA		0.373	GYPB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364791.1	NM_002100		7	38	0	0	0	1	0	7	38					T	144918703	C	T	144918703	3	4	132	1	0	0	0	0	1	0	0	0	6909	884	31	2	23	2	GYPB	4	144918703	Missense_Mutation	SNP	C	TCGA-EJ-A7NM-01A-21D-A33T-08	44047807	144918703	46235573	23	6730											
FGA	2243	broad.mit.edu	37	chr4	155507879	155507879	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agctggctcttaaaatttccGggaaccaagtctggaactgg	11	10	11	9	1	2	0	0	0	2	0	3	2	3	2	2	4	3	2	2	4	5	2			TCGA-EJ-A7NM-01A-21D-A33T-08	TCGA-EJ-A7NM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da5750e6-fb1c-4bd9-9fc7-fa93504b0690	0892efc4-b6f5-47e3-befe-b685ebb7d359	g.chr4:155507879G>A	ENST00000302053.3	-	5	780	c.702C>T	c.(700-702)ccC>ccT	p.P234P	FGA_ENST00000403106.3_Silent_p.P234P	NM_000508.3	NP_000499.1	P02671	FIBA_HUMAN	fibrinogen alpha chain	234					blood coagulation (GO:0007596)|blood coagulation, common pathway (GO:0072377)|cell-matrix adhesion (GO:0007160)|cellular protein complex assembly (GO:0043623)|extracellular matrix organization (GO:0030198)|negative regulation of blood coagulation, common pathway (GO:2000261)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of exocytosis (GO:0045921)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of peptide hormone secretion (GO:0090277)|positive regulation of protein secretion (GO:0050714)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive regulation of vasoconstriction (GO:0045907)|protein polymerization (GO:0051258)|response to calcium ion (GO:0051592)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|cell cortex (GO:0005938)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|plasma membrane (GO:0005886)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|vesicle (GO:0031982)	structural molecule activity (GO:0005198)			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	73	all_hematologic(180;0.215)	Renal(120;0.0458)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)	TAAAATTTCCGGGAACCAAGT	0.453																																					NSCLC(143;340 1922 20892 22370 48145)	ENST00000302053.3																			0				NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	73						c.(700-702)ccC>ccT		fibrinogen alpha chain	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)						124	129	127					4																	155507879		2203	4300	6503	SO:0001819	synonymous_variant	2243				platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding	g.chr4:155507879G>A		CCDS3787.1, CCDS47152.1	4q28	2014-09-17			ENSG00000171560	ENSG00000171560		"Fibrinogen C domain containing", "Endogenous ligands"	3661	protein-coding gene	gene with protein product		134820	"fibrinogen, A alpha polypeptide"				Standard	NM_000508		Approved		uc003iod.1	P02671	OTTHUMG00000150330	ENST00000302053.3:c.702C>T	4.37:g.155507879G>A						FGA_ENST00000403106.3_Silent_p.P234P	p.P234P	NM_000508.3	NP_000499.1	P02671	FIBA_HUMAN			5	780	-	all_hematologic(180;0.215)	Renal(120;0.0458)	234					A8K3E4|D3DP14|D3DP15|Q4QQH7|Q9BX62|Q9UCH2	Silent	SNP	ENST00000302053.3	37	c.702C>T	CCDS3787.1																																																																																				0.453	FGA-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317593.1	NM_000508		9	74	0	0	0	1	0	9	74					A	155507879	G	A	155507879	2	1	132	1	0	0	0	0	0	0	0	1	5830	1103	39	2		2	FGA	4	155507879	Silent	SNP	G	TCGA-EJ-A7NM-01A-21D-A33T-08	10589176	155507879	35646397	24	6731											
ADCY2	108	broad.mit.edu	37	chr5	7698397	7698397	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aattaaaattttaggagactGctactactgtgtatctggac	13	14	8	6	0	1	1	0	0	1	1	1	3	1	2	0	2	3	2	0	2	7	6			TCGA-EJ-A7NM-01A-21D-A33T-08	TCGA-EJ-A7NM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da5750e6-fb1c-4bd9-9fc7-fa93504b0690	0892efc4-b6f5-47e3-befe-b685ebb7d359	g.chr5:7698397G>A	ENST00000338316.4	+	7	1108	c.1019G>A	c.(1018-1020)tGc>tAc	p.C340Y	ADCY2_ENST00000537121.1_Missense_Mutation_p.C160Y	NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)	340					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cAMP biosynthetic process (GO:0006171)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	adenylate cyclase activity (GO:0004016)|adenylate cyclase binding (GO:0008179)|ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						TTAGGAGACTGCTACTACTGT	0.393																																						ENST00000338316.4																			0				NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						c.(1018-1020)tGc>tAc		adenylate cyclase 2 (brain)							158	163	161					5																	7698397		2203	4300	6503	SO:0001583	missense	108				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|dendrite|integral to membrane|plasma membrane	ATP binding|metal ion binding	g.chr5:7698397G>A	AB028983	CCDS3872.2	5p15.3	2013-02-04			ENSG00000078295	ENSG00000078295	4.6.1.1	"Adenylate cyclases"	233	protein-coding gene	gene with protein product		103071				1427768	Standard	NM_020546		Approved	HBAC2, KIAA1060, AC2	uc003jdz.1	Q08462	OTTHUMG00000090476	ENST00000338316.4:c.1019G>A	5.37:g.7698397G>A	ENSP00000342952:p.Cys340Tyr					ADCY2_ENST00000537121.1_Missense_Mutation_p.C160Y	p.C340Y	NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN			7	1108	+			340					B7Z2C1|Q2NKL8|Q9UDB2|Q9UPU2	Missense_Mutation	SNP	ENST00000338316.4	37	c.1019G>A	CCDS3872.2	.	.	.	.	.	.	.	.	.	.	G	27.0	4.791981	0.90453	.	.	ENSG00000078295	ENST00000338316;ENST00000541993;ENST00000537121	D;D	0.84800	-1.9;-1.9	5.8	5.8	0.92144	Adenylyl cyclase class-3/4/guanylyl cyclase (5);	0.000000	0.85682	D	0.000000	D	0.95376	0.8499	H	0.96269	3.795	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.997;0.999	D	0.96191	0.9138	10	0.87932	D	0	.	20.0545	0.97645	0.0:0.0:1.0:0.0	.	160;340	B7Z2C1;Q08462	.;ADCY2_HUMAN	Y	340;191;160	ENSP00000342952:C340Y;ENSP00000444803:C160Y	ENSP00000342952:C340Y	C	+	2	0	ADCY2	7751397	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.470000	0.97683	2.748000	0.94277	0.655000	0.94253	TGC		0.393	ADCY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206930.2	NM_020546		28	94	0	0	0	1	0	28	94					A	7698397	G	A	7698397	3	1	132	1	0	0	0	0	1	0	0	0	294	1319	46	3	1045	3	ADCY2	5	7698397	Missense_Mutation	SNP	G	TCGA-EJ-A7NM-01A-21D-A33T-08		7698397	173216863	25	6732											
RGMB	285704	broad.mit.edu	37	chr5	98115452	98115452	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttcaaaagcctgccgtggcaAcctggtataccattctgccg	9	10	9	13	2	2	0	1	0	1	0	2	0	2	0	5	2	5	2	5	2	5	4			TCGA-EJ-A7NM-01A-21D-A33T-08	TCGA-EJ-A7NM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da5750e6-fb1c-4bd9-9fc7-fa93504b0690	0892efc4-b6f5-47e3-befe-b685ebb7d359	g.chr5:98115452A>G	ENST00000513185.1	+	2	741	c.305A>G	c.(304-306)aAc>aGc	p.N102S	RGMB_ENST00000504776.1_3'UTR|RGMB_ENST00000308234.7_Missense_Mutation_p.N143S			Q6NW40	RGMB_HUMAN	repulsive guidance molecule family member b	102					axon guidance (GO:0007411)|BMP signaling pathway (GO:0030509)|cell adhesion (GO:0007155)|positive regulation of transcription, DNA-templated (GO:0045893)|signal transduction (GO:0007165)	anchored component of plasma membrane (GO:0046658)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)	identical protein binding (GO:0042802)			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(2)|upper_aerodigestive_tract(1)	10		all_cancers(142;2.76e-08)|all_epithelial(76;2.98e-11)|all_lung(232;0.000485)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|Ovarian(225;0.024)|Colorectal(57;0.117)		COAD - Colon adenocarcinoma(37;0.0587)		TGCCGTGGCAACCTGGTATAC	0.547																																						ENST00000308234.7																			0				haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(2)|upper_aerodigestive_tract(1)	10						c.(427-429)aAc>aGc		repulsive guidance molecule family member b							70	71	71					5																	98115452		1966	4153	6119	SO:0001583	missense	285704				axon guidance|BMP signaling pathway|cell adhesion|positive regulation of transcription, DNA-dependent	anchored to plasma membrane|ER-Golgi intermediate compartment|membrane raft	identical protein binding	g.chr5:98115452A>G	AK074887	CCDS47251.1	5q21.1	2013-11-06	2013-11-06		ENSG00000174136	ENSG00000174136			26896	protein-coding gene	gene with protein product		612687	"RGM domain family, member B"			19324014	Standard	NM_001012761		Approved	FLJ90406, DRAGON	uc003knc.3	Q6NW40	OTTHUMG00000162745	ENST00000513185.1:c.305A>G	5.37:g.98115452A>G	ENSP00000423256:p.Asn102Ser					RGMB_ENST00000513185.1_Missense_Mutation_p.N102S|RGMB_ENST00000504776.1_3'UTR	p.N143S	NM_001012761.2	NP_001012779.2	Q6NW40	RGMB_HUMAN		COAD - Colon adenocarcinoma(37;0.0587)	4	830	+		all_cancers(142;2.76e-08)|all_epithelial(76;2.98e-11)|all_lung(232;0.000485)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|Ovarian(225;0.024)|Colorectal(57;0.117)	102					D6R9A0|Q8NC92	Missense_Mutation	SNP	ENST00000513185.1	37	c.428A>G		.	.	.	.	.	.	.	.	.	.	A	22.9	4.350404	0.82132	.	.	ENSG00000174136	ENST00000308234;ENST00000513185	D;D	0.97620	-4.46;-4.46	5.4	5.4	0.78164	Repulsive guidance molecule, N-terminal (1);	0.040660	0.85682	D	0.000000	D	0.97967	0.9331	M	0.70595	2.14	0.80722	D	1	D	0.71674	0.998	D	0.67382	0.951	D	0.98362	1.0549	10	0.51188	T	0.08	-30.3943	15.7042	0.77565	1.0:0.0:0.0:0.0	.	102	Q6NW40	RGMB_HUMAN	S	143;102	ENSP00000308219:N143S;ENSP00000423256:N102S	ENSP00000308219:N143S	N	+	2	0	RGMB	98143352	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.910000	0.92685	2.171000	0.68590	0.460000	0.39030	AAC		0.547	RGMB-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000370308.1	NM_173670		9	38	0	0	0	1	0	9	38					G	98115452	A	G	98115452	3	3	132	1	0	0	0	0	1	0	0	0	13281	43	2	4	438	4	RGMB	5	98115452	Missense_Mutation	SNP	A	TCGA-EJ-A7NM-01A-21D-A33T-08	90417055	98115452	82799808	26	6733											
MEGF10	84466	broad.mit.edu	37	chr5	126791206	126791206	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcccgaaaagctcagagtgtGgttatgtggagatgaaatcg	12	10	13	6	2	1	3	1	1	0	2	3	5	2	3	1	2	1	2	1	2	4	1			TCGA-EJ-A7NM-01A-21D-A33T-08	TCGA-EJ-A7NM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da5750e6-fb1c-4bd9-9fc7-fa93504b0690	0892efc4-b6f5-47e3-befe-b685ebb7d359	g.chr5:126791206G>A	ENST00000274473.6	+	25	3406	c.3139G>A	c.(3139-3141)Ggt>Agt	p.G1047S	MEGF10_ENST00000510828.1_3'UTR|MEGF10_ENST00000503335.2_Missense_Mutation_p.G1047S	NM_032446.2	NP_115822.1	Q96KG7	MEG10_HUMAN	multiple EGF-like-domains 10	1047	Necessary for formation of large intracellular vacuoles.				homotypic cell-cell adhesion (GO:0034109)|muscle cell development (GO:0055001)|recognition of apoptotic cell (GO:0043654)|regulation of muscle cell differentiation (GO:0051147)|regulation of skeletal muscle tissue development (GO:0048641)|skeletal muscle satellite cell activation (GO:0014719)|skeletal muscle satellite cell differentiation (GO:0014816)|skeletal muscle satellite cell proliferation (GO:0014841)	cell projection (GO:0042995)|integral component of membrane (GO:0016021)|phagocytic cup (GO:0001891)				breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(28)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	68		Prostate(80;0.165)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123)		CTCAGAGTGTGGTTATGTGGA	0.428																																						ENST00000274473.6																			0				breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(28)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	68						c.(3139-3141)Ggt>Agt		multiple EGF-like-domains 10							112	118	116					5																	126791206		2203	4300	6503	SO:0001583	missense	84466				cell adhesion|phagocytosis	basolateral plasma membrane|cell projection|integral to membrane|phagocytic cup		g.chr5:126791206G>A	AK021631	CCDS4142.1	5q33	2008-02-05			ENSG00000145794	ENSG00000145794			29634	protein-coding gene	gene with protein product		612453				11347906	Standard	NM_032446		Approved	KIAA1780	uc003kui.4	Q96KG7	OTTHUMG00000128984	ENST00000274473.6:c.3139G>A	5.37:g.126791206G>A	ENSP00000274473:p.Gly1047Ser					MEGF10_ENST00000503335.2_Missense_Mutation_p.G1047S|MEGF10_ENST00000510828.1_3'UTR	p.G1047S	NM_032446.2	NP_115822.1	Q96KG7	MEG10_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123)	25	3406	+		Prostate(80;0.165)	1047			Necessary for formation of large intracellular vacuoles.		Q68DE5|Q8WUL3	Missense_Mutation	SNP	ENST00000274473.6	37	c.3139G>A	CCDS4142.1	.	.	.	.	.	.	.	.	.	.	G	9.335	1.061409	0.19987	.	.	ENSG00000145794	ENST00000503335;ENST00000274473	T;T	0.69806	-0.43;-0.43	5.4	5.4	0.78164	.	0.000000	0.64402	D	0.000001	T	0.53965	0.1829	N	0.20530	0.585	0.58432	D	0.999998	B	0.19073	0.033	B	0.22386	0.039	T	0.48399	-0.9039	10	0.15066	T	0.55	-27.4736	19.5463	0.95299	0.0:0.0:1.0:0.0	.	1047	Q96KG7	MEG10_HUMAN	S	1047	ENSP00000423354:G1047S;ENSP00000274473:G1047S	ENSP00000274473:G1047S	G	+	1	0	MEGF10	126819105	1.000000	0.71417	1.000000	0.80357	0.855000	0.48748	6.297000	0.72757	2.679000	0.91253	0.655000	0.94253	GGT		0.428	MEGF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250973.2	NM_032446		37	75	0	0	0	1	0	37	75					A	126791206	G	A	126791206	3	1	132	1	0	0	0	0	1	0	0	0	9460	1348	47	3	3229	3	MEGF10	5	126791206	Missense_Mutation	SNP	G	TCGA-EJ-A7NM-01A-21D-A33T-08	28675754	126791206	54124054	27	6734											
SLC23A1	9963	broad.mit.edu	37	chr5	138714919	138714919	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ttgatagcatgtactggaggGggtggtgcaccagccaggcg	8	8	17	8	1	0	1	0	1	0	0	0	2	0	2	2	5	4	3	2	5	2	3			TCGA-EJ-A7NM-01A-21D-A33T-08	TCGA-EJ-A7NM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da5750e6-fb1c-4bd9-9fc7-fa93504b0690	0892efc4-b6f5-47e3-befe-b685ebb7d359	g.chr5:138714919G>T	ENST00000348729.3	-	9	1096	c.1050C>A	c.(1048-1050)ccC>ccA	p.P350P	SLC23A1_ENST00000503919.1_5'Flank|SLC23A1_ENST00000353963.3_Silent_p.P354P	NM_005847.4	NP_005838	Q9UHI7	S23A1_HUMAN	solute carrier family 23 (ascorbic acid transporter), member 1	350					brain development (GO:0007420)|dehydroascorbic acid transport (GO:0070837)|L-ascorbic acid metabolic process (GO:0019852)|L-ascorbic acid transport (GO:0015882)|lung development (GO:0030324)|nucleobase transport (GO:0015851)|nucleobase-containing compound metabolic process (GO:0006139)|response to toxic substance (GO:0009636)|small molecule metabolic process (GO:0044281)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transepithelial L-ascorbic acid transport (GO:0070904)|vitamin metabolic process (GO:0006766)|vitamin transmembrane transport (GO:0035461)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|brush border (GO:0005903)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|intracellular organelle (GO:0043229)|membrane (GO:0016020)|plasma membrane (GO:0005886)	dehydroascorbic acid transporter activity (GO:0033300)|L-ascorbate:sodium symporter activity (GO:0008520)|L-ascorbic acid transporter activity (GO:0015229)|nucleobase transmembrane transporter activity (GO:0015205)|sodium ion transmembrane transporter activity (GO:0015081)|sodium-dependent L-ascorbate transmembrane transporter activity (GO:0070890)			biliary_tract(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(5)|ovary(1)	19			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)		Vitamin C(DB00126)	GTACTGGAGGGGGTGGTGCAC	0.607																																						ENST00000353963.3																			0				biliary_tract(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(5)|ovary(1)	19						c.(1060-1062)ccC>ccA		solute carrier family 23 (ascorbic acid transporter), member 1	Vitamin C(DB00126)						110	107	108					5																	138714919		2203	4300	6503	SO:0001819	synonymous_variant	9963				brain development|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|response to toxin|transepithelial L-ascorbic acid transport|water-soluble vitamin metabolic process	apical plasma membrane|cytoplasm|integral to plasma membrane|intracellular organelle|membrane fraction	dehydroascorbic acid transporter activity|L-ascorbate:sodium symporter activity|nucleobase transmembrane transporter activity|protein binding|sodium-dependent L-ascorbate transmembrane transporter activity	g.chr5:138714919G>T	AF058317	CCDS4212.1, CCDS4213.1	5q31.2	2013-07-18	2013-07-18	2003-03-21	ENSG00000170482	ENSG00000170482		"Solute carriers"	10974	protein-coding gene	gene with protein product		603790	"solute carrier family 23 (nucleobase transporters), member 2"	SLC23A2		9804989, 10331392	Standard	NM_005847		Approved	YSPL3, SVCT1	uc003leg.3	Q9UHI7	OTTHUMG00000129228	ENST00000348729.3:c.1050C>A	5.37:g.138714919G>T						SLC23A1_ENST00000348729.3_Silent_p.P350P	p.P354P	NM_152685.3	NP_689898.2	Q9UHI7	S23A1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)		9	1100	-			350					O95191|Q8WWB6|Q9UGH4|Q9UI39	Silent	SNP	ENST00000348729.3	37	c.1062C>A	CCDS4212.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	9.804|9.804	1.181368|1.181368	0.21787|0.21787	.|.	.|.	ENSG00000170482|ENSG00000170482	ENST00000453898|ENST00000504513	.|T	.|0.17370	.|2.28	5.26|5.26	3.35|3.35	0.38373|0.38373	.|.	0.054414|0.054414	0.85682|0.85682	D|D	0.000000|0.000000	T|T	0.22166|0.22166	0.0534|0.0534	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.03403|0.03403	-1.1040|-1.1040	6|7	0.66056|0.66056	D|D	0.02|0.02	-8.0643|-8.0643	3.2059|3.2059	0.06666|0.06666	0.0901:0.1363:0.5095:0.2641|0.0901:0.1363:0.5095:0.2641	.|.	.|.	.|.	.|.	H|T	305|97	.|ENSP00000422688:P97T	ENSP00000406720:P305H|ENSP00000422688:P97T	P|P	-|-	2|1	0|0	SLC23A1|SLC23A1	138742818|138742818	0.003000|0.003000	0.15002|0.15002	1.000000|1.000000	0.80357|0.80357	0.987000|0.987000	0.75469|0.75469	-1.277000|-1.277000	0.02812|0.02812	1.451000|1.451000	0.47736|0.47736	0.561000|0.561000	0.74099|0.74099	CCC|CCC		0.607	SLC23A1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000374185.1	NM_152685		33	60	1	0	1.57351e-24	1	1.74835e-24	33	60					T	138714919	G	T	138714919	2	4	132	1	0	0	0	0	0	0	0	1	14462	1219	43	5		5	SLC23A1	5	138714919	Silent	SNP	G	TCGA-EJ-A7NM-01A-21D-A33T-08	11923713	138714919	42200341	28	6735											
FAT2	2196	broad.mit.edu	37	chr5	150947571	150947571	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caaactgaactcattgctccGggcataagacttgatggctt	11	11	9	10	1	1	3	1	2	0	1	2	3	2	3	1	2	3	3	1	2	3	4	rs370670557		TCGA-EJ-A7NM-01A-21D-A33T-08	TCGA-EJ-A7NM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da5750e6-fb1c-4bd9-9fc7-fa93504b0690	0892efc4-b6f5-47e3-befe-b685ebb7d359	g.chr5:150947571G>A	ENST00000261800.5	-	1	934	c.922C>T	c.(922-924)Cgg>Tgg	p.R308W		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	308					epithelial cell migration (GO:0010631)|homophilic cell adhesion (GO:0007156)	cell-cell adherens junction (GO:0005913)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TCATTGCTCCGGGCATAAGAC	0.522																																						ENST00000261800.5																			0				NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196						c.(922-924)Cgg>Tgg		FAT atypical cadherin 2		G	TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	85	88	87		922	4.7	0.6	5		87	0,8600		0,0,4300	no	missense	FAT2	NM_001447.2	101	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	308/4350	150947571	1,13005	2203	4300	6503	SO:0001583	missense	2196				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding	g.chr5:150947571G>A	AF231022	CCDS4317.1	5q33.1	2014-07-21	2013-05-31		ENSG00000086570	ENSG00000086570		"Cadherins / Cadherin-related"	3596	protein-coding gene	gene with protein product	"cadherin-related family member 9"	604269	"FAT tumor suppressor (Drosophila) homolog 2", "FAT tumor suppressor homolog 2 (Drosophila)"			9693030	Standard	NM_001447		Approved	MEGF1, CDHF8, HFAT2, CDHR9	uc003lue.4	Q9NYQ8	OTTHUMG00000130126	ENST00000261800.5:c.922C>T	5.37:g.150947571G>A	ENSP00000261800:p.Arg308Trp						p.R308W	NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		1	934	-		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	308					O75091|Q9NSR7	Missense_Mutation	SNP	ENST00000261800.5	37	c.922C>T	CCDS4317.1	.	.	.	.	.	.	.	.	.	.	G	11.27	1.588495	0.28357	2.27E-4	0.0	ENSG00000086570	ENST00000261800	T	0.71461	-0.57	5.54	4.65	0.58169	.	0.450652	0.20562	N	0.089898	T	0.53351	0.1791	N	0.08118	0	0.09310	N	1	D	0.54772	0.968	B	0.44315	0.446	T	0.53208	-0.8471	10	0.52906	T	0.07	.	12.7616	0.57367	0.0:0.4063:0.5937:0.0	.	308	Q9NYQ8	FAT2_HUMAN	W	308	ENSP00000261800:R308W	ENSP00000261800:R308W	R	-	1	2	FAT2	150927764	0.030000	0.19436	0.634000	0.29324	0.782000	0.44232	1.684000	0.37649	2.603000	0.88011	0.484000	0.47621	CGG		0.522	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252434.1	NM_001447		31	82	0	0	0	1	0	31	82					A	150947571	G	A	150947571	3	1	132	1	0	0	0	0	1	0	0	0	5690	1115	39	2	12219	2	FAT2	5	150947571	Missense_Mutation	SNP	G	TCGA-EJ-A7NM-01A-21D-A33T-08	12232652	150947571	29967689	29	6736											
ZBTB24	9841	broad.mit.edu	37	chr6	109802616	109802616	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	caatttgctcattcagtacaCcactgtctcctttaaccaca	11	13	3	14	0	3	0	2	0	1	0	4	0	3	0	3	0	3	2	3	0	3	5			TCGA-EJ-A7NM-01A-21D-A33T-08	TCGA-EJ-A7NM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da5750e6-fb1c-4bd9-9fc7-fa93504b0690	0892efc4-b6f5-47e3-befe-b685ebb7d359	g.chr6:109802616C>T	ENST00000230122.3	-	2	781	c.614G>A	c.(613-615)gGt>gAt	p.G205D		NM_001164313.1|NM_014797.2	NP_001157785.1|NP_055612.2	O43167	ZBT24_HUMAN	zinc finger and BTB domain containing 24	205					hematopoietic progenitor cell differentiation (GO:0002244)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	22		all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149)		Epithelial(106;0.0154)|all cancers(137;0.0216)|OV - Ovarian serous cystadenocarcinoma(136;0.0242)|BRCA - Breast invasive adenocarcinoma(108;0.059)		ATTCAGTACACCACTGTCTCC	0.413																																						ENST00000230122.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	22						c.(613-615)gGt>gAt		zinc finger and BTB domain containing 24							234	233	233					6																	109802616		2203	4300	6503	SO:0001583	missense	9841				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr6:109802616C>T	AB007901	CCDS34509.1	6q21	2014-09-17	2004-04-15	2004-04-16	ENSG00000112365	ENSG00000112365		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	21143	protein-coding gene	gene with protein product	"POZ (BTB) and AT hook containing zinc finger 2"	614064	"zinc finger protein 450"	ZNF450		9455477	Standard	NM_014797		Approved	KIAA0441, BIF1, PATZ2	uc003ptl.1	O43167	OTTHUMG00000015349	ENST00000230122.3:c.614G>A	6.37:g.109802616C>T	ENSP00000230122:p.Gly205Asp						p.G205D	NM_001164313.1|NM_014797.2	NP_001157785.1|NP_055612.2	O43167	ZBT24_HUMAN		Epithelial(106;0.0154)|all cancers(137;0.0216)|OV - Ovarian serous cystadenocarcinoma(136;0.0242)|BRCA - Breast invasive adenocarcinoma(108;0.059)	2	781	-		all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149)	205					Q17RC6|Q5TED5|Q8N455	Missense_Mutation	SNP	ENST00000230122.3	37	c.614G>A	CCDS34509.1	.	.	.	.	.	.	.	.	.	.	C	0.013	-1.646370	0.00792	.	.	ENSG00000112365	ENST00000230122	T	0.10477	2.87	5.06	2.09	0.27110	.	0.894418	0.09845	N	0.748372	T	0.01523	0.0049	N	0.24115	0.695	0.09310	N	1	B;B	0.25904	0.137;0.049	B;B	0.25140	0.058;0.026	T	0.49133	-0.8971	10	0.11794	T	0.64	-1.1658	2.6801	0.05091	0.2973:0.4455:0.1128:0.1443	.	205;205	O43167-2;O43167	.;ZBT24_HUMAN	D	205	ENSP00000230122:G205D	ENSP00000230122:G205D	G	-	2	0	ZBTB24	109909309	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	0.278000	0.18753	0.207000	0.20607	0.655000	0.94253	GGT		0.413	ZBTB24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041758.1	NM_014797		56	161	0	0	0	1	0	56	161					T	109802616	C	T	109802616	3	4	132	1	0	0	0	0	1	0	0	0	17528	507	18	3	1553	3	ZBTB24	6	109802616	Missense_Mutation	SNP	C	TCGA-EJ-A7NM-01A-21D-A33T-08		109802616	61312451	30	6737											
TBP	6908	broad.mit.edu	37	chr6	170871043	170871043	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagcagcagcagcagcaacaGcaacagcagcagcagcagca	16	0	11	14	0	0	0	0	0	0	0	0	0	0	0	0	0	13	11	0	0	2	0			TCGA-EJ-A7NM-01A-21D-A33T-08	TCGA-EJ-A7NM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da5750e6-fb1c-4bd9-9fc7-fa93504b0690	0892efc4-b6f5-47e3-befe-b685ebb7d359	g.chr6:170871043G>A	ENST00000392092.2	+	3	498	c.219G>A	c.(217-219)caG>caA	p.Q73Q	TBP_ENST00000230354.6_Silent_p.Q73Q|TBP_ENST00000540980.1_Silent_p.Q53Q	NM_003194.4	NP_003185.1	P20226	TBP_HUMAN	TATA box binding protein	73	Poly-Gln.				cell death (GO:0008219)|gene expression (GO:0010467)|positive regulation of transcription, DNA-templated (GO:0045893)|spermatogenesis (GO:0007283)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription from RNA polymerase III promoter (GO:0006383)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	cytoplasm (GO:0005737)|female pronucleus (GO:0001939)|male pronucleus (GO:0001940)|nuclear euchromatin (GO:0005719)|nucleoplasm (GO:0005654)|transcription factor TFIIA complex (GO:0005672)|transcription factor TFIID complex (GO:0005669)	repressing transcription factor binding (GO:0070491)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)	p.Q73Q(1)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1)	26		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591)		agcagcaacagcaacagcagc	0.562																																						ENST00000392092.2																			1	Substitution - coding silent(1)	p.Q73Q(1)	endometrium(1)	breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1)	26						c.(217-219)caG>caA		TATA box binding protein							17	21	20					6																	170871043		1987	3877	5864	SO:0001819	synonymous_variant	6908				cell death|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription from RNA polymerase III promoter|viral reproduction	transcription factor TFIIA complex|transcription factor TFIID complex	repressing transcription factor binding|transcription regulatory region DNA binding	g.chr6:170871043G>A	M55654	CCDS5315.1, CCDS55077.1	6q27	2014-04-02			ENSG00000112592	ENSG00000112592		"General transcription factors"	11588	protein-coding gene	gene with protein product		600075		GTF2D1, SCA17		2194289, 11448935	Standard	NM_003194		Approved	TFIID	uc003qxu.3	P20226	OTTHUMG00000016084	ENST00000392092.2:c.219G>A	6.37:g.170871043G>A						TBP_ENST00000230354.6_Silent_p.Q73Q|TBP_ENST00000540980.1_Silent_p.Q53Q	p.Q73Q	NM_003194.4	NP_003185.1	P20226	TBP_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591)	3	498	+		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)	73			Poly-Gln.		B4E3B3|F5H869|Q16845|Q6IBM6|Q9UC02	Silent	SNP	ENST00000392092.2	37	c.219G>A	CCDS5315.1																																																																																				0.562	TBP-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043271.2	NM_003194		5	50	0	0	0	1	0	5	50					A	170871043	G	A	170871043	2	1	132	1	0	0	0	0	0	0	0	1	15641	962	34	3		3	TBP	6	170871043	Silent	SNP	G	TCGA-EJ-A7NM-01A-21D-A33T-08	61068427	170871043	244024	31	6738											
AEBP1	165	broad.mit.edu	37	chr7	44153447	44153447	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcgacgcctgcagcagcgaCgcctacaacaccgcctgcgg	9	3	12	17	6	0	0	0	0	0	0	0	2	0	0	4	1	7	2	4	1	2	1			TCGA-EJ-A7NM-01A-21D-A33T-08	TCGA-EJ-A7NM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da5750e6-fb1c-4bd9-9fc7-fa93504b0690	0892efc4-b6f5-47e3-befe-b685ebb7d359	g.chr7:44153447C>T	ENST00000223357.3	+	21	3369	c.3064C>T	c.(3064-3066)Cgc>Tgc	p.R1022C	MIR4649_ENST00000582839.1_RNA|AEBP1_ENST00000450684.2_Missense_Mutation_p.R597C	NM_001129.3	NP_001120.3	Q8IUX7	AEBP1_HUMAN	AE binding protein 1	1022	Interaction with MAPK1 and MAPK3. {ECO:0000250}.|Required for transcriptional repression. {ECO:0000250}.				cell adhesion (GO:0007155)|muscle organ development (GO:0007517)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	carboxypeptidase activity (GO:0004180)|metallocarboxypeptidase activity (GO:0004181)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(13)|upper_aerodigestive_tract(2)	33						GCAGCAGCGACGCCTACAACA	0.682																																						ENST00000223357.3																			0				NS(1)|breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(13)|upper_aerodigestive_tract(2)	33						c.(3064-3066)Cgc>Tgc		AE binding protein 1							69	75	73					7																	44153447		2203	4300	6503	SO:0001583	missense	165				cell adhesion|muscle organ development|proteolysis|skeletal system development	cytoplasm|extracellular space|nucleus	DNA binding|metallocarboxypeptidase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr7:44153447C>T	D86479	CCDS5476.1	7p	2008-07-18	2001-11-28		ENSG00000106624	ENSG00000106624			303	protein-coding gene	gene with protein product	"aortic carboxypeptidase-like protein", "adipocyte enhancer binding protein 1"	602981	"AE-binding protein 1"			8920928	Standard	NM_001129		Approved	ACLP	uc003tkb.4	Q8IUX7	OTTHUMG00000023362	ENST00000223357.3:c.3064C>T	7.37:g.44153447C>T	ENSP00000223357:p.Arg1022Cys					AEBP1_ENST00000450684.2_Missense_Mutation_p.R597C	p.R1022C	NM_001129.3	NP_001120.3	Q8IUX7	AEBP1_HUMAN			21	3369	+			1022			Interaction with MAPK1 and MAPK3 (By similarity).|Required for transcriptional repression (By similarity).		Q14113|Q59ER7|Q6ZSC7|Q7KZ79	Missense_Mutation	SNP	ENST00000223357.3	37	c.3064C>T	CCDS5476.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.217235	0.79352	.	.	ENSG00000106624	ENST00000223357;ENST00000450684	D;D	0.96104	-3.91;-3.22	5.33	5.33	0.75918	.	0.064498	0.64402	D	0.000008	D	0.95683	0.8596	L	0.29908	0.895	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.74023	0.982;0.981	D	0.96176	0.9127	10	0.87932	D	0	-31.4965	14.3975	0.67020	0.1484:0.8516:0.0:0.0	.	597;1022	Q8IUX7-2;Q8IUX7	.;AEBP1_HUMAN	C	1022;597	ENSP00000223357:R1022C;ENSP00000398878:R597C	ENSP00000223357:R1022C	R	+	1	0	AEBP1	44119972	0.999000	0.42202	0.918000	0.36340	0.821000	0.46438	2.402000	0.44521	2.499000	0.84300	0.557000	0.71058	CGC		0.682	AEBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250993.2	NM_001129		19	62	0	0	0	1	0	19	62					T	44153447	C	T	44153447	3	4	132	1	0	0	0	0	1	0	0	0	349	536	19	1	3146	1	AEBP1	7	44153447	Missense_Mutation	SNP	C	TCGA-EJ-A7NM-01A-21D-A33T-08		44153447	114985216	32	6739											
UBN2	254048	broad.mit.edu	37	chr7	138968836	138968836	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	taagccttctgcctcacccaAgccctctctgtcagctaagc	8	10	6	17	0	4	0	2	0	2	0	5	0	4	0	4	0	5	1	4	0	3	3	rs201276230		TCGA-EJ-A7NM-01A-21D-A33T-08	TCGA-EJ-A7NM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da5750e6-fb1c-4bd9-9fc7-fa93504b0690	0892efc4-b6f5-47e3-befe-b685ebb7d359	g.chr7:138968836A>G	ENST00000473989.3	+	15	3185	c.3185A>G	c.(3184-3186)aAg>aGg	p.K1062R	UBN2_ENST00000288561.8_Missense_Mutation_p.K979R	NM_173569.3	NP_775840.3	Q6ZU65	UBN2_HUMAN	ubinuclein 2	1062	Ser-rich.					extracellular space (GO:0005615)|nucleus (GO:0005634)				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	42						GCCTCACCCAAGCCCTCTCTG	0.517													A|||	1	0.000199681	0	0	5008	,	,		20128	0		0.001	False		,,,				2504	0					ENST00000288561.8																			0				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	42						c.(2935-2937)aAg>aGg		ubinuclein 2		A	ARG/LYS	0,4014		0,0,2007	96	104	102		3185	5.2	1	7		102	5,8331		0,5,4163	yes	missense	UBN2	NM_173569.3	26	0,5,6170	GG,GA,AA		0.06,0.0,0.0405	possibly-damaging	1062/1348	138968836	5,12345	2007	4168	6175	SO:0001583	missense	254048							g.chr7:138968836A>G	AK098644	CCDS43655.1, CCDS43655.2	7q34	2008-12-08			ENSG00000157741	ENSG00000157741			21931	protein-coding gene	gene with protein product		613841				19029251	Standard	NM_173569		Approved	FLJ25778, KIAA2030	uc011kqr.2	Q6ZU65	OTTHUMG00000157623	ENST00000473989.3:c.3185A>G	7.37:g.138968836A>G	ENSP00000418648:p.Lys1062Arg					UBN2_ENST00000473989.2_Missense_Mutation_p.K1062R	p.K979R	NM_173569.3	NP_775840.3	Q6ZU65	UBN2_HUMAN			15	3185	+			1062			Ser-rich.		A4D1S2|Q2YDY4|Q6P1K0|Q86XN9|Q8N7D1	Missense_Mutation	SNP	ENST00000473989.3	37	c.2936A>G	CCDS43655.2	.	.	.	.	.	.	.	.	.	.	A	16.46	3.128274	0.56721	0.0	6.0E-4	ENSG00000157741	ENST00000473989;ENST00000288561	T;T	0.35605	1.3;1.39	5.19	5.19	0.71726	.	0.423266	0.26045	N	0.026674	T	0.47116	0.1428	L	0.40543	1.245	0.33874	D	0.635304	P	0.52842	0.956	D	0.65010	0.931	T	0.54944	-0.8217	10	0.25751	T	0.34	-10.9652	13.3205	0.60430	1.0:0.0:0.0:0.0	.	1062	Q6ZU65	UBN2_HUMAN	R	1062;979	ENSP00000418648:K1062R;ENSP00000288561:K979R	ENSP00000288561:K979R	K	+	2	0	UBN2	138619376	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	6.072000	0.71238	2.087000	0.62958	0.455000	0.32223	AAG		0.517	UBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349272.3	NM_173569		28	54	0	0	0	1	0	28	54					G	138968836	A	G	138968836	3	3	132	1	0	0	0	0	1	0	0	0	16890	72	3	4	3243	4	UBN2	7	138968836	Missense_Mutation	SNP	A	TCGA-EJ-A7NM-01A-21D-A33T-08	94815389	138968836	20169827	33	6740											
SSPO	23145	broad.mit.edu	37	chr7	149512437	149512437	+	RNA	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgtgcccccagcccactgccGctgccagtaccagcctggag	6	5	11	19	2	0	0	0	0	0	0	0	1	0	1	7	1	6	2	7	1	1	1	rs370804598		TCGA-EJ-A7NM-01A-21D-A33T-08	TCGA-EJ-A7NM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da5750e6-fb1c-4bd9-9fc7-fa93504b0690	0892efc4-b6f5-47e3-befe-b685ebb7d359	g.chr7:149512437G>T	ENST00000378016.2	+	0	10757							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion (GO:0007155)	extracellular space (GO:0005615)	peptidase inhibitor activity (GO:0030414)					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			GCCCACTGCCGCTGCCAGTAC	0.721																																						ENST00000378016.2																			0													SCO-spondin							7	11	10					7																	149512437		1952	4116	6068			23145				cell adhesion	extracellular space	peptidase inhibitor activity	g.chr7:149512437G>T	AK093431		7q36.1	2013-08-07	2013-08-06		ENSG00000197558	ENSG00000197558			21998	protein-coding gene	gene with protein product	"subcommissural organ spondin", "SCO protein, thrombospondin domain containing"		"SCO-spondin homolog (Bos taurus)"			8743952, 11008217	Standard	NM_198455		Approved	SCO-spondin, KIAA0543, FLJ36112	uc010lpk.3	A2VEC9	OTTHUMG00000157884		7.37:g.149512437G>T										A2VEC9	SSPO_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00625)		0	10757	+	Melanoma(164;0.165)|Ovarian(565;0.177)							Q76B61	RNA	SNP	ENST00000378016.2	37																																																																																						0.721	SSPO-202	KNOWN	basic	processed_transcript	processed_transcript				7	9	1	0	2.0095e-06	1	2.17897e-06	7	9					T	149512437	G	T	149512437	1	4	132	0	1	0	0	0	0	0	0	0	15188	1087	38	5		5	SSPO	7	149512437	RNA	SNP	G	TCGA-EJ-A7NM-01A-21D-A33T-08	10543601	149512437	9626226	34	6741											
KCNV1	27012	broad.mit.edu	37	chr8	110984699	110984699	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgtcccgcacacacaggaagCggaggacaaactccccggtg	11	4	12	14	3	0	0	0	0	0	0	2	3	2	3	3	4	2	1	3	4	2	0			TCGA-EJ-A7NM-01A-21D-A33T-08	TCGA-EJ-A7NM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da5750e6-fb1c-4bd9-9fc7-fa93504b0690	0892efc4-b6f5-47e3-befe-b685ebb7d359	g.chr8:110984699C>T	ENST00000524391.1	-	3	1811	c.779G>A	c.(778-780)cGc>cAc	p.R260H	KCNV1_ENST00000297404.1_Missense_Mutation_p.R260H|RP11-696P8.2_ENST00000530667.1_RNA			Q6PIU1	KCNV1_HUMAN	potassium channel, subfamily V, member 1	260					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|ion channel inhibitor activity (GO:0008200)|potassium channel regulator activity (GO:0015459)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(20)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	all_neural(195;0.219)		OV - Ovarian serous cystadenocarcinoma(57;5.35e-13)			ACACAGGAAGCGGAGGACAAA	0.532																																						ENST00000524391.1																			0				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(20)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						c.(778-780)cGc>cAc		potassium channel, subfamily V, member 1							78	67	71					8																	110984699		2203	4300	6503	SO:0001583	missense	27012					voltage-gated potassium channel complex	ion channel inhibitor activity|potassium channel regulator activity|voltage-gated potassium channel activity	g.chr8:110984699C>T	AF167082	CCDS6314.1	8q23.2	2011-07-05				ENSG00000164794		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	18861	protein-coding gene	gene with protein product		608164				8670833, 16382104	Standard	NM_014379		Approved	Kv8.1	uc003ynr.4	Q6PIU1		ENST00000524391.1:c.779G>A	8.37:g.110984699C>T	ENSP00000435954:p.Arg260His					KCNV1_ENST00000297404.1_Missense_Mutation_p.R260H	p.R260H			Q6PIU1	KCNV1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;5.35e-13)		3	1811	-	all_neural(195;0.219)		260					Q9UHJ4	Missense_Mutation	SNP	ENST00000524391.1	37	c.779G>A	CCDS6314.1	.	.	.	.	.	.	.	.	.	.	C	32	5.153654	0.94645	.	.	ENSG00000164794	ENST00000524391;ENST00000297404;ENST00000545728	D;D	0.98684	-5.07;-5.07	5.7	5.7	0.88788	Ion transport (1);	0.111628	0.53938	D	0.000044	D	0.99515	0.9827	H	0.97240	3.965	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.98158	1.0445	10	0.87932	D	0	.	18.8179	0.92085	0.0:1.0:0.0:0.0	.	260	Q6PIU1	KCNV1_HUMAN	H	260;260;136	ENSP00000435954:R260H;ENSP00000297404:R260H	ENSP00000297404:R260H	R	-	2	0	KCNV1	111053875	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.818000	0.86416	2.697000	0.92050	0.557000	0.71058	CGC		0.532	KCNV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385525.1	NM_014379		4	47	0	0	0	1	0	4	47					T	110984699	C	T	110984699	3	4	132	1	0	0	0	0	1	0	0	0	8094	768	27	1	731	1	KCNV1	8	110984699	Missense_Mutation	SNP	C	TCGA-EJ-A7NM-01A-21D-A33T-08		110984699	35379323	35	6742											
C9orf11	54586	broad.mit.edu	37	chr9	27291028	27291030	+	In_Frame_Del	DEL	ATT	ATT	-																															tgactttacctttagctaacAttgtccaaaatgcaggcacg																										TCGA-EJ-A7NM-01A-21D-A33T-08	TCGA-EJ-A7NM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da5750e6-fb1c-4bd9-9fc7-fa93504b0690	0892efc4-b6f5-47e3-befe-b685ebb7d359	g.chr9:27291028_27291030delATT	ENST00000380032.3	-	5	491_493	c.408_410delAAT	c.(406-411)acaatg>acg	p.M137del	EQTN_ENST00000484994.1_5'Flank|EQTN_ENST00000537675.1_In_Frame_Del_p.M108del	NM_020641.2	NP_065692.2	Q9NQ60	EQTN_HUMAN	equatorin, sperm acrosome associated	137					acrosomal vesicle exocytosis (GO:0060478)|endocytosis (GO:0006897)|fusion of sperm to egg plasma membrane (GO:0007342)	early endosome (GO:0005769)|inner acrosomal membrane (GO:0002079)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|outer acrosomal membrane (GO:0002081)|plasma membrane (GO:0005886)											TTTAGCTAACATTGTCCAAAATG	0.335																																						ENST00000380032.3																			0											c.(406-411)acg>ac		equatorin, sperm acrosome associated																																				SO:0001651	inframe_deletion	54586							g.chr9:27291028_27291030delATT	AJ278482	CCDS35001.1, CCDS55300.1	9p21	2012-09-20	2012-09-20	2012-09-20	ENSG00000120160	ENSG00000120160			1359	protein-coding gene	gene with protein product	"Acr formation associated factor", "Acrosome formation associated factor", "sperm acrosome associated 8"		"chromosome 9 open reading frame 11", "equatorin"	C9orf11			Standard	NM_020641		Approved	AFAF, SPACA8, equatorin	uc003zql.3	Q9NQ60	OTTHUMG00000021033	ENST00000380032.3:c.408_410delAAT	9.37:g.27291028_27291030delATT	ENSP00000369371:p.Met137del					EQTN_ENST00000537675.1_In_Frame_Del_p.TM107del	p.TM136del	NM_020641.2	NP_065692.2					5	491_493	-								B2RPB3|B7ZMK1|Q5TCU1|Q96L22	In_Frame_Del	DEL	ENST00000380032.3	37	c.408_410delAAT	CCDS35001.1																																																																																				0.335	EQTN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055499.1	NM_020641		13	22						13	22	---	---	---	---	-	27291030	ATT	-	27291028	7	5	132	1	0	1	0	1	0	0	0	0	2448	217	8	0	490	0	C9orf11	9	27291028	In_Frame_Del	DEL	ATT	TCGA-EJ-A7NM-01A-21D-A33T-08		27291028	113922403	36	6743											
TAF1L	138474	broad.mit.edu	37	chr9	32632433	32632433	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgttctgttgacattgtgcGcaccacatcaatcacttccc	8	13	6	14	1	3	1	2	1	1	0	4	1	4	1	2	0	1	3	2	0	1	4	rs535964605		TCGA-EJ-A7NM-01A-21D-A33T-08	TCGA-EJ-A7NM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da5750e6-fb1c-4bd9-9fc7-fa93504b0690	0892efc4-b6f5-47e3-befe-b685ebb7d359	g.chr9:32632433G>A	ENST00000242310.4	-	1	3234	c.3145C>T	c.(3145-3147)Cgc>Tgc	p.R1049C	RP11-555J4.4_ENST00000430787.1_RNA	NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	1049					DNA-templated transcription, initiation (GO:0006352)|histone acetylation (GO:0016573)|male meiosis (GO:0007140)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	transcription factor TFIID complex (GO:0005669)	DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine-acetylated histone binding (GO:0070577)|protein serine/threonine kinase activity (GO:0004674)|TBP-class protein binding (GO:0017025)	p.R1049C(1)		breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		GACATTGTGCGCACCACATCA	0.473													G|||	1	0.000199681	8e-04	0	5008	,	,		21860	0		0	False		,,,				2504	0					ENST00000242310.4																			1	Substitution - Missense(1)	p.R1049C(1)	kidney(1)	breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159						c.(3145-3147)Cgc>Tgc		TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like							223	221	222					9																	32632433		2203	4300	6503	SO:0001583	missense	138474				male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding	g.chr9:32632433G>A	AF390562	CCDS35003.1	9p12	2007-07-27	2007-07-27		ENSG00000122728	ENSG00000122728			18056	protein-coding gene	gene with protein product		607798	"TAF1-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa"			12217962	Standard	NM_153809		Approved		uc003zrg.1	Q8IZX4	OTTHUMG00000019747	ENST00000242310.4:c.3145C>T	9.37:g.32632433G>A	ENSP00000418379:p.Arg1049Cys						p.R1049C	NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)	1	3234	-			1049					Q0VG57	Missense_Mutation	SNP	ENST00000242310.4	37	c.3145C>T	CCDS35003.1	.	.	.	.	.	.	.	.	.	.	G	17.63	3.437424	0.62955	.	.	ENSG00000122728	ENST00000242310	T	0.17054	2.3	0.479	0.479	0.16796	.	0.000000	0.85682	D	0.000000	T	0.38639	0.1048	M	0.84511	2.7	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.23048	-1.0199	10	0.87932	D	0	.	6.6915	0.23174	2.0E-4:0.0:0.9998:0.0	.	1049	Q8IZX4	TAF1L_HUMAN	C	1049	ENSP00000418379:R1049C	ENSP00000418379:R1049C	R	-	1	0	TAF1L	32622433	1.000000	0.71417	0.998000	0.56505	0.882000	0.50991	2.905000	0.48727	0.507000	0.28148	0.195000	0.17529	CGC		0.473	TAF1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052012.2			47	151	0	0	0	1	0	47	151					A	32632433	G	A	32632433	3	1	132	1	0	0	0	0	1	0	0	0	15520	1087	38	1	2339	1	TAF1L	9	32632433	Missense_Mutation	SNP	G	TCGA-EJ-A7NM-01A-21D-A33T-08	5341405	32632433	108580998	37	6744											
ZNF462	58499	broad.mit.edu	37	chr9	109701288	109701288	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ctcaaggtccacggaaaagcCctgaccctccccaggccacg	10	4	9	18	2	1	1	1	1	0	0	3	2	3	2	6	3	1	0	6	3	3	0			TCGA-EJ-A7NM-01A-21D-A33T-08	TCGA-EJ-A7NM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da5750e6-fb1c-4bd9-9fc7-fa93504b0690	0892efc4-b6f5-47e3-befe-b685ebb7d359	g.chr9:109701288C>G	ENST00000277225.5	+	7	6616	c.6327C>G	c.(6325-6327)gcC>gcG	p.A2109A	ZNF462_ENST00000457913.1_Silent_p.A2169A|ZNF462_ENST00000441147.2_Silent_p.A1015A|ZNF462_ENST00000542028.1_Silent_p.A66A			Q96JM2	ZN462_HUMAN	zinc finger protein 462	2109					chromatin organization (GO:0006325)|negative regulation of DNA binding (GO:0043392)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						ACGGAAAAGCCCTGACCCTCC	0.557																																						ENST00000277225.5																			0				NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						c.(6325-6327)gcC>gcG		zinc finger protein 462							254	243	247					9																	109701288		2203	4300	6503	SO:0001819	synonymous_variant	58499				transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:109701288C>G	AB058706	CCDS35096.1	9q31.3	2008-02-05			ENSG00000148143	ENSG00000148143		"Zinc fingers, C2H2-type"	21684	protein-coding gene	gene with protein product							Standard	NM_021224		Approved	DKFZP762N2316, KIAA1803, Zfp462	uc004bcz.3	Q96JM2	OTTHUMG00000020438	ENST00000277225.5:c.6327C>G	9.37:g.109701288C>G						ZNF462_ENST00000542028.1_Silent_p.A66A|ZNF462_ENST00000457913.1_Silent_p.A2169A|ZNF462_ENST00000441147.2_Silent_p.A1015A	p.A2109A			Q96JM2	ZN462_HUMAN			7	6616	+			2109					Q5T0T4|Q8N408	Silent	SNP	ENST00000277225.5	37	c.6327C>G	CCDS35096.1	.	.	.	.	.	.	.	.	.	.	C	10.58	1.391180	0.25118	.	.	ENSG00000148143	ENST00000427098	.	.	.	5.71	5.71	0.89125	.	.	.	.	.	T	0.65026	0.2652	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.62595	-0.6821	4	.	.	.	.	12.8738	0.57980	0.2706:0.7294:0.0:0.0	.	.	.	.	A	11	.	.	P	+	1	0	ZNF462	108741109	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.310000	0.43708	2.681000	0.91329	0.655000	0.94253	CCT		0.557	ZNF462-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000053532.2	NM_021224		84	183	0	0	0	1	0	84	183					G	109701288	C	G	109701288	2	3	132	1	0	0	0	0	0	0	0	1	17923	610	22	5		5	ZNF462	9	109701288	Silent	SNP	C	TCGA-EJ-A7NM-01A-21D-A33T-08	77068855	109701288	31512143	38	6745											
C10orf76	79591	broad.mit.edu	37	chr10	103751749	103751749	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtactgcacatactaaaggaCggcagggaagattcttgtct	12	10	11	8	1	2	1	0	0	2	1	2	3	2	3	0	3	3	3	0	3	5	5			TCGA-EJ-A7NM-01A-21D-A33T-08	TCGA-EJ-A7NM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da5750e6-fb1c-4bd9-9fc7-fa93504b0690	0892efc4-b6f5-47e3-befe-b685ebb7d359	g.chr10:103751749C>T	ENST00000370033.4	-	18	1441	c.1322G>A	c.(1321-1323)cGt>cAt	p.R441H		NM_024541.2	NP_078817.2	Q5T2E6	CJ076_HUMAN	chromosome 10 open reading frame 76	441						integral component of membrane (GO:0016021)				autonomic_ganglia(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(7)|prostate(2)|upper_aerodigestive_tract(2)	24		Colorectal(252;0.123)		Epithelial(162;2.41e-08)|all cancers(201;6.41e-07)		TACTAAAGGACGGCAGGGAAG	0.438																																						ENST00000370033.4																			0				autonomic_ganglia(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(7)|prostate(2)|upper_aerodigestive_tract(2)	24						c.(1321-1323)cGt>cAt		chromosome 10 open reading frame 76							268	259	262					10																	103751749		1976	4169	6145	SO:0001583	missense	79591					integral to membrane		g.chr10:103751749C>T	AK023176	CCDS41563.1	10q24.32	2008-10-21			ENSG00000120029	ENSG00000120029			25788	protein-coding gene	gene with protein product						14702039	Standard	NM_024541		Approved	FLJ13114	uc009xwy.1	Q5T2E6	OTTHUMG00000018943	ENST00000370033.4:c.1322G>A	10.37:g.103751749C>T	ENSP00000359050:p.Arg441His						p.R441H	NM_024541.2	NP_078817.2	Q5T2E6	CJ076_HUMAN		Epithelial(162;2.41e-08)|all cancers(201;6.41e-07)	18	1441	-		Colorectal(252;0.123)	441					Q2TB87|Q9H8Z9	Missense_Mutation	SNP	ENST00000370033.4	37	c.1322G>A	CCDS41563.1	.	.	.	.	.	.	.	.	.	.	C	29.2	4.985225	0.93044	.	.	ENSG00000120029	ENST00000370033;ENST00000431271;ENST00000263485;ENST00000456149	.	.	.	5.55	5.55	0.83447	Domain of unknown function DUF1741 (1);	0.000000	0.85682	D	0.000000	T	0.54549	0.1865	L	0.47716	1.5	0.80722	D	1	P	0.47253	0.892	B	0.39379	0.298	T	0.61613	-0.7027	9	0.72032	D	0.01	-9.8294	19.8575	0.96767	0.0:1.0:0.0:0.0	.	441	Q5T2E6	CJ076_HUMAN	H	441;16;67;67	.	ENSP00000263485:R67H	R	-	2	0	C10orf76	103741739	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	6.621000	0.74228	2.767000	0.95098	0.563000	0.77884	CGT		0.438	C10orf76-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050007.1	NM_024541		39	85	0	0	0	1	0	39	85					T	103751749	C	T	103751749	3	4	132	1	0	0	0	0	1	0	0	0	1616	536	19	1	783	1	C10orf76	10	103751749	Missense_Mutation	SNP	C	TCGA-EJ-A7NM-01A-21D-A33T-08		103751749	31782998	39	6746											
FGFR2	2263	broad.mit.edu	37	chr10	123325040	123325040	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccggagtctctaggcgtggcGccctttatctgcaagtactc	6	11	11	13	3	2	0	0	0	2	0	4	1	2	1	2	3	2	2	2	3	4	4	rs55806379		TCGA-EJ-A7NM-01A-21D-A33T-08	TCGA-EJ-A7NM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da5750e6-fb1c-4bd9-9fc7-fa93504b0690	0892efc4-b6f5-47e3-befe-b685ebb7d359	g.chr10:123325040G>A	ENST00000358487.5	-	3	560	c.288C>T	c.(286-288)ggC>ggT	p.G96G	FGFR2_ENST00000360144.3_Intron|FGFR2_ENST00000369060.4_Silent_p.G96G|FGFR2_ENST00000357555.5_Intron|FGFR2_ENST00000490349.1_5'UTR|FGFR2_ENST00000359354.2_Silent_p.G96G|FGFR2_ENST00000369061.4_Silent_p.G96G|FGFR2_ENST00000346997.2_Silent_p.G96G|FGFR2_ENST00000369056.1_Silent_p.G96G|FGFR2_ENST00000356226.4_Intron|FGFR2_ENST00000369059.1_Intron|FGFR2_ENST00000351936.6_Silent_p.G96G|FGFR2_ENST00000457416.2_Silent_p.G96G	NM_000141.4	NP_000132.3	P21802	FGFR2_HUMAN	fibroblast growth factor receptor 2	96	Ig-like C2-type 1.				angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|axonogenesis (GO:0007409)|bone development (GO:0060348)|bone mineralization (GO:0030282)|bone morphogenesis (GO:0060349)|branch elongation involved in salivary gland morphogenesis (GO:0060667)|branching involved in labyrinthine layer morphogenesis (GO:0060670)|branching involved in prostate gland morphogenesis (GO:0060442)|branching involved in salivary gland morphogenesis (GO:0060445)|branching morphogenesis of a nerve (GO:0048755)|bud elongation involved in lung branching (GO:0060449)|cell fate commitment (GO:0045165)|cell-cell signaling (GO:0007267)|coronal suture morphogenesis (GO:0060365)|digestive tract development (GO:0048565)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic organ development (GO:0048568)|embryonic organ morphogenesis (GO:0048562)|embryonic pattern specification (GO:0009880)|endodermal digestive tract morphogenesis (GO:0061031)|epidermal growth factor receptor signaling pathway (GO:0007173)|epidermis morphogenesis (GO:0048730)|epithelial cell differentiation (GO:0030855)|epithelial cell proliferation involved in salivary gland morphogenesis (GO:0060664)|epithelial to mesenchymal transition (GO:0001837)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|fibroblast growth factor receptor signaling pathway involved in hemopoiesis (GO:0035603)|fibroblast growth factor receptor signaling pathway involved in mammary gland specification (GO:0060595)|fibroblast growth factor receptor signaling pathway involved in negative regulation of apoptotic process in bone marrow (GO:0035602)|fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development (GO:0035607)|fibroblast growth factor receptor signaling pathway involved in positive regulation of cell proliferation in bone marrow (GO:0035604)|gland morphogenesis (GO:0022612)|hair follicle morphogenesis (GO:0031069)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inner ear morphogenesis (GO:0042472)|insulin receptor signaling pathway (GO:0008286)|lacrimal gland development (GO:0032808)|lateral sprouting from an epithelium (GO:0060601)|lens fiber cell development (GO:0070307)|limb bud formation (GO:0060174)|lung alveolus development (GO:0048286)|lung development (GO:0030324)|lung lobe morphogenesis (GO:0060463)|lung-associated mesenchyme development (GO:0060484)|mammary gland bud formation (GO:0060615)|membranous septum morphogenesis (GO:0003149)|mesenchymal cell differentiation (GO:0048762)|mesenchymal cell differentiation involved in lung development (GO:0060915)|mesenchymal cell proliferation involved in lung development (GO:0060916)|mesodermal cell differentiation (GO:0048333)|midbrain development (GO:0030901)|morphogenesis of embryonic epithelium (GO:0016331)|multicellular organism growth (GO:0035264)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of mitosis (GO:0045839)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuromuscular junction development (GO:0007528)|neurotrophin TRK receptor signaling pathway (GO:0048011)|odontogenesis (GO:0042476)|orbitofrontal cortex development (GO:0021769)|organ growth (GO:0035265)|organ morphogenesis (GO:0009887)|otic vesicle formation (GO:0030916)|outflow tract septum morphogenesis (GO:0003148)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial cell proliferation involved in lung morphogenesis (GO:0060501)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of Wnt signaling pathway (GO:0030177)|post-embryonic development (GO:0009791)|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis (GO:0060527)|prostate epithelial cord elongation (GO:0060523)|prostate gland morphogenesis (GO:0060512)|protein autophosphorylation (GO:0046777)|pyramidal neuron development (GO:0021860)|regulation of branching involved in prostate gland morphogenesis (GO:0060687)|regulation of cell fate commitment (GO:0010453)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|regulation of morphogenesis of a branching structure (GO:0060688)|regulation of multicellular organism growth (GO:0040014)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoblast proliferation (GO:0033688)|regulation of smooth muscle cell differentiation (GO:0051150)|regulation of smoothened signaling pathway (GO:0008589)|reproductive structure development (GO:0048608)|skeletal system morphogenesis (GO:0048705)|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development (GO:0060529)|synaptic vesicle transport (GO:0048489)|ureteric bud development (GO:0001657)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|ventricular zone neuroblast division (GO:0021847)	cell cortex (GO:0005938)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|excitatory synapse (GO:0060076)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|fibroblast growth factor binding (GO:0017134)|fibroblast growth factor-activated receptor activity (GO:0005007)|heparin binding (GO:0008201)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)			breast(3)|central_nervous_system(3)|cervix(2)|endometrium(98)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|lung(21)|ovary(4)|skin(30)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(2)	181		Lung NSC(174;0.0841)|all_lung(145;0.106)|all_neural(114;0.107)	STAD - Stomach adenocarcinoma(1;7.52e-05)|all cancers(1;0.0722)	all cancers(201;9.73e-05)|GBM - Glioblastoma multiforme(135;0.0845)	Palifermin(DB00039)|Ponatinib(DB08901)|Regorafenib(DB08896)|Thalidomide(DB01041)	TAGGCGTGGCGCCCTTTATCT	0.522		5	Mis		"gastric. NSCLC, endometrial"		"Crouzon, Pfeiffer, and Apert syndromes"		Saethre-Chotzen syndrome;Apert syndrome				G|||	1	0.000199681	8e-04	0	5008	,	,		17730	0		0	False		,,,				2504	0					ENST00000358487.5		5		Dom	yes		10	10q26	2263	Mis	fibroblast growth factor receptor 2	yes	"Crouzon, Pfeiffer, and Apert syndromes"	E			"gastric. NSCLC, endometrial"		0				breast(3)|central_nervous_system(3)|cervix(2)|endometrium(98)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|lung(21)|ovary(4)|skin(30)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(2)	181						c.(286-288)ggC>ggT		fibroblast growth factor receptor 2	Palifermin(DB00039)						182	154	164					10																	123325040		2203	4300	6503	SO:0001819	synonymous_variant	2263	Saethre-Chotzen syndrome;Apert syndrome	Familial Cancer Database	Acrocephalosyndactyly type III;Acrocephalosyndactyly type I and II, ACS1. ACS2, incl Apert-Crouzon s.	angiogenesis|axonogenesis|bone mineralization|bone morphogenesis|branch elongation involved in salivary gland morphogenesis|branching involved in embryonic placenta morphogenesis|branching morphogenesis of a nerve|bud elongation involved in lung branching|cell fate commitment|cell growth|cell-cell signaling|cellular response to protein stimulus|embryonic digestive tract morphogenesis|embryonic pattern specification|epithelial cell proliferation involved in salivary gland morphogenesis|fibroblast growth factor receptor signaling pathway involved in hemopoiesis|fibroblast growth factor receptor signaling pathway involved in mammary gland specification|fibroblast growth factor receptor signaling pathway involved in negative regulation of apoptosis in bone marrow|fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development|fibroblast growth factor receptor signaling pathway involved in positive regulation of cell proliferation in bone marrow|hair follicle morphogenesis|insulin receptor signaling pathway|lacrimal gland development|lateral sprouting from an epithelium|limb bud formation|lung alveolus development|lung lobe morphogenesis|lung-associated mesenchyme development|mammary gland bud formation|membranous septum morphogenesis|mesenchymal cell differentiation involved in lung development|mesenchymal cell proliferation involved in lung development|midbrain development|multicellular organism growth|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|organ growth|otic vesicle formation|outflow tract septum morphogenesis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell cycle|positive regulation of cell division|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of ERK1 and ERK2 cascade|positive regulation of mesenchymal cell proliferation|positive regulation of transcription from RNA polymerase II promoter|post-embryonic development|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis|prostate epithelial cord elongation|pyramidal neuron development|regulation of branching involved in prostate gland morphogenesis|regulation of cell fate commitment|regulation of fibroblast growth factor receptor signaling pathway|regulation of multicellular organism growth|regulation of smooth muscle cell differentiation|regulation of smoothened signaling pathway|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development|ureteric bud development|ventricular cardiac muscle tissue morphogenesis|ventricular zone neuroblast division	cell cortex|cell surface|excitatory synapse|extracellular region|integral to membrane|nucleus|plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|heparin binding|protein binding	g.chr10:123325040G>A	AK026508	CCDS7620.2, CCDS31298.1, CCDS44485.1, CCDS44486.1, CCDS44487.1, CCDS44488.1, CCDS44489.1, CCDS53584.1, CCDS73210.1	10q25.3-q26	2013-01-11	2008-08-01		ENSG00000066468	ENSG00000066468		"CD molecules", "Immunoglobulin superfamily / I-set domain containing"	3689	protein-coding gene	gene with protein product	"Crouzon syndrome", "Pfeiffer syndrome"	176943	"bacteria-expressed kinase", "keratinocyte growth factor receptor", "craniofacial dysostosis 1", "Jackson-Weiss syndrome"	KGFR, BEK, CFD1, JWS			Standard	NM_022970		Approved	CEK3, TK14, TK25, ECT1, K-SAM, CD332	uc021pzy.1	P21802	OTTHUMG00000019175	ENST00000358487.5:c.288C>T	10.37:g.123325040G>A						FGFR2_ENST00000457416.2_Silent_p.G96G|FGFR2_ENST00000490349.1_5'UTR|FGFR2_ENST00000369061.4_Silent_p.G96G|FGFR2_ENST00000357555.5_Intron|FGFR2_ENST00000369060.4_Silent_p.G96G|FGFR2_ENST00000369056.1_Silent_p.G96G|FGFR2_ENST00000369059.1_Intron|FGFR2_ENST00000359354.2_Silent_p.G96G|FGFR2_ENST00000351936.6_Silent_p.G96G|FGFR2_ENST00000346997.2_Silent_p.G96G|FGFR2_ENST00000360144.3_Intron|FGFR2_ENST00000356226.4_Intron	p.G96G	NM_000141.4	NP_000132.3	P21802	FGFR2_HUMAN	STAD - Stomach adenocarcinoma(1;7.52e-05)|all cancers(1;0.0722)	all cancers(201;9.73e-05)|GBM - Glioblastoma multiforme(135;0.0845)	3	560	-		Lung NSC(174;0.0841)|all_lung(145;0.106)|all_neural(114;0.107)	96			Ig-like C2-type 1.		B4DFC2|E7EVR6|E9PCR0|P18443|Q01742|Q12922|Q14300|Q14301|Q14302|Q14303|Q14304|Q14305|Q14672|Q14718|Q14719|Q1KHY5|Q86YI4|Q8IXC7|Q96KL9|Q96KM0|Q96KM1|Q96KM2|Q9NZU2|Q9NZU3|Q9UD01|Q9UD02|Q9UIH3|Q9UIH4|Q9UIH5|Q9UIH6|Q9UIH7|Q9UIH8|Q9UM87|Q9UMC6|Q9UNS7|Q9UQH7|Q9UQH8|Q9UQH9|Q9UQI0	Silent	SNP	ENST00000358487.5	37	c.288C>T	CCDS31298.1																																																																																				0.522	FGFR2-001	KNOWN	non_canonical_conserved|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000050715.1	NM_022976, NM_000141		5	91	0	0	0	1	0	5	91					A	123325040	G	A	123325040	2	1	132	1	0	0	0	0	0	0	0	1	5866	1074	38	1		1	FGFR2	10	123325040	Silent	SNP	G	TCGA-EJ-A7NM-01A-21D-A33T-08	19573291	123325040	12209707	40	6747											
OMP	4975	broad.mit.edu	37	chr11	76814045	76814045	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agccagcggagtctgtgtacCgcctcaacttcacccagcag	9	7	10	15	2	3	0	2	0	1	0	3	1	3	1	4	1	5	2	4	1	2	2			TCGA-EJ-A7NM-01A-21D-A33T-08	TCGA-EJ-A7NM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da5750e6-fb1c-4bd9-9fc7-fa93504b0690	0892efc4-b6f5-47e3-befe-b685ebb7d359	g.chr11:76814045C>T	ENST00000529803.1	+	1	160	c.160C>T	c.(160-162)Cgc>Tgc	p.R54C	CAPN5_ENST00000531028.1_Intron|CAPN5_ENST00000529629.1_Intron|CAPN5_ENST00000456580.2_Intron|CAPN5_ENST00000278559.3_Intron	NM_006189.1	NP_006180.1	P47874	OMP_HUMAN	olfactory marker protein	54					neurogenesis (GO:0022008)|sensory perception of smell (GO:0007608)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	axon (GO:0030424)|cytoplasm (GO:0005737)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	signal transducer activity (GO:0004871)	p.R54C(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(1)	5						GTCTGTGTACCGCCTCAACTT	0.637																																						ENST00000529803.1																			1	Substitution - Missense(1)	p.R54C(1)	endometrium(1)	endometrium(1)|kidney(1)|large_intestine(2)|lung(1)	5						c.(160-162)Cgc>Tgc		olfactory marker protein							39	51	47					11																	76814045		2156	4260	6416	SO:0001583	missense	4975				sensory perception of smell|synaptic transmission			g.chr11:76814045C>T	U01212	CCDS53682.1	11q14-q21	2008-07-21				ENSG00000254550			8136	protein-coding gene	gene with protein product		164340				8499899	Standard	NM_006189		Approved		uc010rsk.2	P47874		ENST00000529803.1:c.160C>T	11.37:g.76814045C>T	ENSP00000436376:p.Arg54Cys					CAPN5_ENST00000531028.1_Intron|CAPN5_ENST00000456580.2_Intron|CAPN5_ENST00000529629.1_Intron|CAPN5_ENST00000278559.3_Intron	p.R54C	NM_006189.1	NP_006180.1	P47874	OMP_HUMAN			1	160	+			54					Q562G2	Missense_Mutation	SNP	ENST00000529803.1	37	c.160C>T	CCDS53682.1	.	.	.	.	.	.	.	.	.	.	C	14.44	2.535669	0.45176	.	.	ENSG00000254550	ENST00000529803	T	0.36520	1.25	5.12	5.12	0.69794	.	.	.	.	.	T	0.48352	0.1495	L	0.32530	0.975	0.51767	D	0.99993	D	0.89917	1.0	D	0.78314	0.991	T	0.42137	-0.9469	9	0.52906	T	0.07	.	14.3251	0.66515	0.1485:0.8515:0.0:0.0	.	54	P47874	OMP_HUMAN	C	54	ENSP00000436376:R54C	ENSP00000436376:R54C	R	+	1	0	OMP	76491693	1.000000	0.71417	1.000000	0.80357	0.151000	0.21798	1.754000	0.38369	2.675000	0.91044	0.462000	0.41574	CGC		0.637	OMP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382570.1	NM_006189		3	43	0	0	0	1	0	3	43					T	76814045	C	T	76814045	3	4	132	1	0	0	0	0	1	0	0	0	10867	652	23	2	162	2	OMP	11	76814045	Missense_Mutation	SNP	C	TCGA-EJ-A7NM-01A-21D-A33T-08		76814045	58192471	41	6748											
MTMR2	8898	broad.mit.edu	37	chr11	95580967	95580967	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cacaatctccttaagttttcGtaatgattctctcataacat	12	16	3	10	1	3	1	1	1	2	0	6	1	3	1	1	0	1	2	1	0	4	6			TCGA-EJ-A7NM-01A-21D-A33T-08	TCGA-EJ-A7NM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da5750e6-fb1c-4bd9-9fc7-fa93504b0690	0892efc4-b6f5-47e3-befe-b685ebb7d359	g.chr11:95580967G>A	ENST00000346299.5	-	10	1430	c.1090C>T	c.(1090-1092)Cga>Tga	p.R364*	MTMR2_ENST00000409459.1_Nonsense_Mutation_p.R292*|MTMR2_ENST00000352297.7_Nonsense_Mutation_p.R292*|MTMR2_ENST00000393223.3_Nonsense_Mutation_p.R292*|MTMR2_ENST00000484818.1_5'Flank	NM_016156.5	NP_057240.3	Q13614	MTMR2_HUMAN	myotubularin related protein 2	364	Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}.				cell death (GO:0008219)|dendritic spine maintenance (GO:0097062)|inositol phosphate dephosphorylation (GO:0046855)|myelin assembly (GO:0032288)|negative regulation of endocytosis (GO:0045806)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of myelination (GO:0031642)|negative regulation of receptor catabolic process (GO:2000645)|negative regulation of receptor internalization (GO:0002091)|neuron development (GO:0048666)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|positive regulation of early endosome to late endosome transport (GO:2000643)|protein dephosphorylation (GO:0006470)|protein tetramerization (GO:0051262)|small molecule metabolic process (GO:0044281)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|endosome (GO:0005768)|neuronal postsynaptic density (GO:0097481)|nucleus (GO:0005634)|synaptic membrane (GO:0097060)|synaptic vesicle (GO:0008021)|vacuolar membrane (GO:0005774)	phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity (GO:0052629)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	19		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				TTAAGTTTTCGTAATGATTCT	0.403																																						ENST00000393223.3																			0				autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	19						c.(874-876)Cga>Tga		myotubularin related protein 2							149	141	144					11																	95580967		2201	4298	6499	SO:0001587	stop_gained	8898					nucleus	inositol or phosphatidylinositol phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr11:95580967G>A	U58033	CCDS8305.1, CCDS8306.1	11q22	2014-09-17			ENSG00000087053	ENSG00000087053		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"	7450	protein-coding gene	gene with protein product		603557		CMT4B		8640223, 9736772	Standard	NM_016156		Approved	KIAA1073	uc001pfu.3	Q13614	OTTHUMG00000153837	ENST00000346299.5:c.1090C>T	11.37:g.95580967G>A	ENSP00000345752:p.Arg364*					MTMR2_ENST00000409459.1_Nonsense_Mutation_p.R292*|MTMR2_ENST00000346299.5_Nonsense_Mutation_p.R364*|MTMR2_ENST00000352297.7_Nonsense_Mutation_p.R292*	p.R292*	NM_001243571.1|NM_201278.2	NP_001230500.1|NP_958435.1	Q13614	MTMR2_HUMAN			12	1536	-		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)	364			Myotubularin phosphatase.		A6NN98|Q9UPS9	Nonsense_Mutation	SNP	ENST00000346299.5	37	c.874C>T	CCDS8305.1	.	.	.	.	.	.	.	.	.	.	G	27.8	4.863382	0.91511	.	.	ENSG00000087053	ENST00000346299;ENST00000393223;ENST00000409459;ENST00000352297;ENST00000444541	.	.	.	5.65	3.62	0.41486	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	7.5487	0.27783	0.0845:0.0:0.6099:0.3056	.	.	.	.	X	364;292;292;292;292	.	ENSP00000345752:R364X	R	-	1	2	MTMR2	95220615	1.000000	0.71417	0.302000	0.25058	0.200000	0.23975	2.823000	0.48081	2.668000	0.90789	0.655000	0.94253	CGA		0.403	MTMR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332620.1	NM_016156		28	56	0	0	0	1	0	28	56					A	95580967	G	A	95580967	4	1	132	1	0	0	0	0	0	1	0	0	9944	1153	40	1	865	1	MTMR2	11	95580967	Nonsense_Mutation	SNP	G	TCGA-EJ-A7NM-01A-21D-A33T-08	18766922	95580967	39425549	42	6749											
ASB8	140461	broad.mit.edu	37	chr12	48543215	48543215	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	aggcccttcactgcatcgggGagatactggagtcccaggct	8	8	13	12	1	1	1	1	0	0	1	3	3	2	2	2	5	2	2	2	5	1	2			TCGA-EJ-A7NM-01A-21D-A33T-08	TCGA-EJ-A7NM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da5750e6-fb1c-4bd9-9fc7-fa93504b0690	0892efc4-b6f5-47e3-befe-b685ebb7d359	g.chr12:48543215G>A	ENST00000317697.3	-	4	970	c.801C>T	c.(799-801)ctC>ctT	p.L267L	ASB8_ENST00000536549.1_Silent_p.L267L|ASB8_ENST00000537754.1_5'UTR	NM_024095.3	NP_077000.1	Q9H765	ASB8_HUMAN	ankyrin repeat and SOCS box containing 8	267	SOCS box. {ECO:0000255|PROSITE- ProRule:PRU00194}.				intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)				breast(1)|kidney(2)|large_intestine(2)|lung(5)|soft_tissue(1)	11						CTGCATCGGGGAGATACTGGA	0.522																																						ENST00000317697.3																			0				breast(1)|kidney(2)|large_intestine(2)|lung(5)|soft_tissue(1)	11						c.(799-801)ctC>ctT		ankyrin repeat and SOCS box containing 8							61	60	60					12																	48543215		2203	4300	6503	SO:0001819	synonymous_variant	0				intracellular signal transduction	cytoplasm|nucleus		g.chr12:48543215G>A	AK024908	CCDS8761.1	12q13.12	2013-01-10	2011-01-25			ENSG00000177981		"Ankyrin repeat domain containing"	17183	protein-coding gene	gene with protein product		615053	"ankyrin repeat and SOCS box-containing 8"			12076535	Standard	NM_024095		Approved	MGC5540, FLJ21255	uc001rrh.3	Q9H765		ENST00000317697.3:c.801C>T	12.37:g.48543215G>A						ASB8_ENST00000536549.1_Silent_p.L267L|ASB8_ENST00000537754.1_5'UTR	p.L267L	NM_024095.3	NP_077000.1	Q9H765	ASB8_HUMAN			4	970	-			267			SOCS box.		A8K1P2|Q547Q2	Silent	SNP	ENST00000317697.3	37	c.801C>T	CCDS8761.1																																																																																				0.522	ASB8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396497.1			14	33	0	0	0	1	0	14	33					A	48543215	G	A	48543215	2	1	132	1	0	0	0	0	0	0	0	1	1029	1161	41	3		3	ASB8	12	48543215	Silent	SNP	G	TCGA-EJ-A7NM-01A-21D-A33T-08		48543215	85308680	43	6750											
HOXC11	3227	broad.mit.edu	37	chr12	54369166	54369166	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaactgagcagagaccggcTgcagtatttctcgggaaatc	12	8	12	9	2	1	2	0	1	1	1	3	5	1	3	1	2	3	4	1	2	3	2			TCGA-EJ-A7NM-01A-21D-A33T-08	TCGA-EJ-A7NM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da5750e6-fb1c-4bd9-9fc7-fa93504b0690	0892efc4-b6f5-47e3-befe-b685ebb7d359	g.chr12:54369166T>C	ENST00000546378.1	+	2	1000	c.884T>C	c.(883-885)cTg>cCg	p.L295P	HOTAIR_ENST00000455246.1_RNA|HOTAIR_ENST00000424518.1_RNA|HOXC11_ENST00000243082.4_Silent_p.A296A			O43248	HXC11_HUMAN	homeobox C11	295					anterior/posterior pattern specification (GO:0009952)|embryonic digit morphogenesis (GO:0042733)|embryonic skeletal joint morphogenesis (GO:0060272)|endoderm development (GO:0007492)|metanephros development (GO:0001656)|organ induction (GO:0001759)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proximal/distal pattern formation (GO:0009954)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			large_intestine(1)|ovary(1)	2						AGAGACCGGCTGCAGTATTTC	0.468			T	NUP98	AML																																	ENST00000546378.1				Dom	yes		12	12q13.3	3227	T	homeo box C11			L	NUP98		AML		0				large_intestine(1)|ovary(1)	2						c.(883-885)cTg>cCg		homeobox C11							32	38	36					12																	54369166		2200	4300	6500	SO:0001583	missense	3227				endoderm development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr12:54369166T>C		CCDS8867.1	12q13.13	2011-06-20	2005-12-22		ENSG00000123388	ENSG00000123388		"Homeoboxes / ANTP class : HOXL subclass"	5123	protein-coding gene	gene with protein product		605559	"homeo box C11"	HOX3H		1973146, 1358459	Standard	NM_014212		Approved		uc001sem.3	O43248	OTTHUMG00000160011	ENST00000546378.1:c.884T>C	12.37:g.54369166T>C	ENSP00000446680:p.Leu295Pro					HOXC11_ENST00000243082.4_Silent_p.A296A	p.L295P			O43248	HXC11_HUMAN			2	1000	+			295					A8K7D1|Q96DH2	Missense_Mutation	SNP	ENST00000546378.1	37	c.884T>C	CCDS8867.1	.	.	.	.	.	.	.	.	.	.	T	19.04	3.750392	0.69533	.	.	ENSG00000123388	ENST00000546378	D	0.92752	-3.1	4.68	4.68	0.58851	.	0.185627	0.36444	N	0.002584	D	0.93367	0.7885	L	0.37850	1.14	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.93947	0.7228	10	0.66056	D	0.02	.	13.4315	0.61057	0.0:0.0:0.0:1.0	.	295	O43248	HXC11_HUMAN	P	295	ENSP00000446680:L295P	ENSP00000446680:L295P	L	+	2	0	HOXC11	52655433	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.925000	0.87563	1.883000	0.54544	0.454000	0.30748	CTG		0.468	HOXC11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358869.2			12	38	0	0	0	1	0	12	38					C	54369166	T	C	54369166	3	2	132	1	0	0	0	0	1	0	0	0	7310	1580	55	4	890	4	HOXC11	12	54369166	Missense_Mutation	SNP	T	TCGA-EJ-A7NM-01A-21D-A33T-08	5825951	54369166	79482729	44	6751											
IFT88	8100	broad.mit.edu	37	chr13	21219039	21219039	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtggcttggagcctattacAttgacacccaattttgggaa	11	12	10	8	0	0	1	0	1	0	0	0	3	0	3	2	3	2	1	2	3	4	6			TCGA-EJ-A7NM-01A-21D-A33T-08	TCGA-EJ-A7NM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da5750e6-fb1c-4bd9-9fc7-fa93504b0690	0892efc4-b6f5-47e3-befe-b685ebb7d359	g.chr13:21219039A>G	ENST00000319980.6	+	22	2245	c.1918A>G	c.(1918-1920)Att>Gtt	p.I640V	IFT88_ENST00000351808.5_Missense_Mutation_p.I631V|IFT88_ENST00000382778.4_Missense_Mutation_p.I640V|IFT88_ENST00000537103.1_Missense_Mutation_p.I612V	NM_175605.3	NP_783195.2	Q13099	IFT88_HUMAN	intraflagellar transport 88	640					anterior/posterior pattern specification (GO:0009952)|cardiac muscle cell differentiation (GO:0055007)|cardiac septum morphogenesis (GO:0060411)|cilium morphogenesis (GO:0060271)|cochlea development (GO:0090102)|cytoplasmic microtubule organization (GO:0031122)|determination of left/right symmetry (GO:0007368)|embryonic digit morphogenesis (GO:0042733)|epidermal stem cell homeostasis (GO:0036334)|epidermis development (GO:0008544)|epithelial cell morphogenesis (GO:0003382)|eye development (GO:0001654)|forebrain morphogenesis (GO:0048853)|heart formation (GO:0060914)|inner ear receptor stereocilium organization (GO:0060122)|kidney development (GO:0001822)|liver development (GO:0001889)|lung vasculature development (GO:0060426)|negative regulation of epithelial cell proliferation (GO:0050680)|Notch signaling pathway (GO:0007219)|palate development (GO:0060021)|pancreas development (GO:0031016)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|protein localization (GO:0008104)|regulation of autophagic vacuole assembly (GO:2000785)|regulation of cilium assembly (GO:1902017)|regulation of fat cell differentiation (GO:0045598)|regulation of odontogenesis of dentin-containing tooth (GO:0042487)|regulation of protein processing (GO:0070613)|regulation of smoothened signaling pathway (GO:0008589)|response to fluid shear stress (GO:0034405)|smoothened signaling pathway (GO:0007224)|sperm axoneme assembly (GO:0007288)|spermatid nucleus elongation (GO:0007290)|spinal cord dorsal/ventral patterning (GO:0021513)|telencephalon development (GO:0021537)	acrosomal membrane (GO:0002080)|apical part of cell (GO:0045177)|axonemal basal plate (GO:0097541)|centriole (GO:0005814)|ciliary basal body (GO:0036064)|ciliary base (GO:0097546)|ciliary tip (GO:0097542)|cilium (GO:0005929)|intraciliary transport particle B (GO:0030992)|kinocilium (GO:0060091)|motile cilium (GO:0031514)|motile primary cilium (GO:0031512)|photoreceptor connecting cilium (GO:0032391)				breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	27		all_cancers(29;5.79e-25)|all_epithelial(30;2.57e-20)|all_lung(29;3.13e-16)|Lung SC(185;0.0262)|Ovarian(182;0.0825)|Hepatocellular(188;0.244)		all cancers(112;0.000667)|Epithelial(112;0.00119)|OV - Ovarian serous cystadenocarcinoma(117;0.0141)|Lung(94;0.0183)|LUSC - Lung squamous cell carcinoma(192;0.0528)		AGCCTATTACATTGACACCCA	0.318																																						ENST00000382778.4																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	27						c.(1918-1920)Att>Gtt		intraflagellar transport 88 homolog (Chlamydomonas)							121	122	122					13																	21219039		2203	4296	6499	SO:0001583	missense	8100				cilium morphogenesis	centriole|intraflagellar transport particle B|microtubule basal body|microtubule-based flagellum	protein binding	g.chr13:21219039A>G	AK058172	CCDS31944.1, CCDS31945.1	13q12.1	2014-07-03	2014-07-03	2005-11-02	ENSG00000032742	ENSG00000032742		"Intraflagellar transport homologs", "Tetratricopeptide (TTC) repeat domain containing"	20606	protein-coding gene	gene with protein product	"polaris homolog"	600595	"tetratricopeptide repeat domain 10", "intraflagellar transport 88 homolog (Chlamydomonas)"	TTC10		7633404	Standard	XM_005266546		Approved	hTg737, Tg737, D13S1056E, MGC26259	uc001uni.3	Q13099	OTTHUMG00000016517	ENST00000319980.6:c.1918A>G	13.37:g.21219039A>G	ENSP00000323580:p.Ile640Val					IFT88_ENST00000319980.6_Missense_Mutation_p.I640V|IFT88_ENST00000351808.5_Missense_Mutation_p.I631V|IFT88_ENST00000537103.1_Missense_Mutation_p.I612V	p.I640V			Q13099	IFT88_HUMAN		all cancers(112;0.000667)|Epithelial(112;0.00119)|OV - Ovarian serous cystadenocarcinoma(117;0.0141)|Lung(94;0.0183)|LUSC - Lung squamous cell carcinoma(192;0.0528)	21	3036	+		all_cancers(29;5.79e-25)|all_epithelial(30;2.57e-20)|all_lung(29;3.13e-16)|Lung SC(185;0.0262)|Ovarian(182;0.0825)|Hepatocellular(188;0.244)	640					A2A491|B4DUS2|Q5SZJ6|Q8N719	Missense_Mutation	SNP	ENST00000319980.6	37	c.1918A>G	CCDS31944.1	.	.	.	.	.	.	.	.	.	.	A	13.31	2.198598	0.38806	.	.	ENSG00000032742	ENST00000382778;ENST00000351808;ENST00000319980;ENST00000537103	T;T;T;T	0.77229	-1.08;-1.08;-1.08;-1.08	5.48	5.48	0.80851	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.151249	0.56097	D	0.000034	T	0.70281	0.3206	L	0.27053	0.805	0.54753	D	0.999987	B;P	0.39535	0.137;0.677	B;B	0.43445	0.058;0.42	T	0.67047	-0.5769	10	0.17369	T	0.5	-24.6286	15.8579	0.78994	1.0:0.0:0.0:0.0	.	612;640	F5H6C2;Q13099	.;IFT88_HUMAN	V	640;631;640;612	ENSP00000372228:I640V;ENSP00000261632:I631V;ENSP00000323580:I640V;ENSP00000437719:I612V	ENSP00000323580:I640V	I	+	1	0	IFT88	20117039	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.099000	0.64554	2.191000	0.70037	0.528000	0.53228	ATT		0.318	IFT88-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000044075.3	NM_006531		31	84	0	0	0	1	0	31	84					G	21219039	A	G	21219039	3	3	132	1	0	0	0	0	1	0	0	0	7566	217	8	4	1996	4	IFT88	13	21219039	Missense_Mutation	SNP	A	TCGA-EJ-A7NM-01A-21D-A33T-08		21219039	93950839	45	6752											
XPO4	64328	broad.mit.edu	37	chr13	21401283	21401283	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggcttcaacagcacattttGcgaggattcaaacatagcta	13	11	8	9	1	2	0	2	0	0	0	2	2	2	1	0	2	5	3	0	2	4	6			TCGA-EJ-A7NM-01A-21D-A33T-08	TCGA-EJ-A7NM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da5750e6-fb1c-4bd9-9fc7-fa93504b0690	0892efc4-b6f5-47e3-befe-b685ebb7d359	g.chr13:21401283G>A	ENST00000255305.6	-	7	834	c.763C>T	c.(763-765)Caa>Taa	p.Q255*	XPO4_ENST00000400602.2_Nonsense_Mutation_p.Q255*			Q9C0E2	XPO4_HUMAN	exportin 4	255					positive regulation of protein export from nucleus (GO:0046827)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(1)|endometrium(10)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	41		all_cancers(29;5.05e-24)|all_epithelial(30;5.56e-20)|all_lung(29;2.38e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)		all cancers(112;0.000521)|Epithelial(112;0.000892)|OV - Ovarian serous cystadenocarcinoma(117;0.0148)|Lung(94;0.0189)|LUSC - Lung squamous cell carcinoma(192;0.0548)		AGCACATTTTGCGAGGATTCA	0.393																																						ENST00000400602.2																			0				breast(1)|endometrium(10)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	41						c.(763-765)Caa>Taa		exportin 4							95	91	92					13																	21401283		1843	4093	5936	SO:0001587	stop_gained	64328				protein transport	cytoplasm|nucleus	protein binding	g.chr13:21401283G>A	AB051508	CCDS41872.1	13q11	2011-04-13			ENSG00000132953	ENSG00000132953		"Exportins"	17796	protein-coding gene	gene with protein product		611449				11214970, 10944119	Standard	NM_022459		Approved	FLJ13046, KIAA1721	uc001unq.4	Q9C0E2	OTTHUMG00000016528	ENST00000255305.6:c.763C>T	13.37:g.21401283G>A	ENSP00000255305:p.Gln255*					XPO4_ENST00000255305.6_Nonsense_Mutation_p.Q255*	p.Q255*	NM_022459.4	NP_071904.4	Q9C0E2	XPO4_HUMAN		all cancers(112;0.000521)|Epithelial(112;0.000892)|OV - Ovarian serous cystadenocarcinoma(117;0.0148)|Lung(94;0.0189)|LUSC - Lung squamous cell carcinoma(192;0.0548)	7	798	-		all_cancers(29;5.05e-24)|all_epithelial(30;5.56e-20)|all_lung(29;2.38e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)	255					Q5VUZ5|Q8N3V6|Q9H934	Nonsense_Mutation	SNP	ENST00000255305.6	37	c.763C>T	CCDS41872.1	.	.	.	.	.	.	.	.	.	.	G	37	6.588527	0.97688	.	.	ENSG00000132953	ENST00000400602;ENST00000456108;ENST00000255305	.	.	.	6.03	6.03	0.97812	.	0.049136	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.28530	T	0.3	-13.9464	20.5596	0.99324	0.0:0.0:1.0:0.0	.	.	.	.	X	255;125;255	.	ENSP00000255305:Q255X	Q	-	1	0	XPO4	20299283	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.975000	0.93437	2.868000	0.98415	0.555000	0.69702	CAA		0.393	XPO4-001	KNOWN	non_canonical_conserved|non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000044096.1	NM_022459		19	44	0	0	0	1	0	19	44					A	21401283	G	A	21401283	4	1	132	1	0	0	0	0	0	1	0	0	17443	1328	46	3	2760	3	XPO4	13	21401283	Nonsense_Mutation	SNP	G	TCGA-EJ-A7NM-01A-21D-A33T-08	182244	21401283	93768595	46	6753											
C13orf39	196541	broad.mit.edu	37	chr13	103338687	103338687	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agttctttcacttcaggcagAtgtgctgtacattgtagtgt	8	16	10	7	0	3	1	2	0	1	1	3	1	3	1	0	1	2	5	0	1	2	6			TCGA-EJ-A7NM-01A-21D-A33T-08	TCGA-EJ-A7NM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da5750e6-fb1c-4bd9-9fc7-fa93504b0690	0892efc4-b6f5-47e3-befe-b685ebb7d359	g.chr13:103338687A>T	ENST00000267273.6	-	4	494	c.489T>A	c.(487-489)caT>caA	p.H163Q		NM_001010977.1	NP_001010977.1	Q5VZV1	MT21C_HUMAN	methyltransferase like 21C	163					peptidyl-lysine methylation (GO:0018022)|protein methylation (GO:0006479)	nucleus (GO:0005634)	protein-lysine N-methyltransferase activity (GO:0016279)			breast(1)|large_intestine(3)|lung(2)|skin(1)	7						CTTCAGGCAGATGTGCTGTAC	0.418																																						ENST00000267273.6																			0				breast(1)|large_intestine(3)|lung(2)|skin(1)	7						c.(487-489)caT>caA		methyltransferase like 21C							87	88	88					13																	103338687		2203	4300	6503	SO:0001583	missense	196541						methyltransferase activity	g.chr13:103338687A>T		CCDS32003.1	13q33.1	2011-03-03	2011-03-03	2011-03-03	ENSG00000139780	ENSG00000139780			33717	protein-coding gene	gene with protein product		615259	"chromosome 13 open reading frame 39"	C13orf39			Standard	NM_001010977		Approved	LOC196541	uc001vpj.4	Q5VZV1	OTTHUMG00000017304	ENST00000267273.6:c.489T>A	13.37:g.103338687A>T	ENSP00000267273:p.His163Gln						p.H163Q	NM_001010977.1	NP_001010977.1	Q5VZV1	MT21C_HUMAN			4	494	-			163						Missense_Mutation	SNP	ENST00000267273.6	37	c.489T>A	CCDS32003.1	.	.	.	.	.	.	.	.	.	.	A	17.71	3.455898	0.63401	.	.	ENSG00000139780	ENST00000267273	T	0.42131	0.98	5.68	-2.06	0.07298	.	0.171432	0.53938	D	0.000060	T	0.41003	0.1140	L	0.46947	1.48	0.35581	D	0.806284	D	0.55172	0.97	P	0.54815	0.761	T	0.51694	-0.8673	10	0.14252	T	0.57	-6.152	11.5652	0.50800	0.4692:0.0:0.5308:0.0	.	163	Q5VZV1	MT21C_HUMAN	Q	163	ENSP00000267273:H163Q	ENSP00000267273:H163Q	H	-	3	2	METTL21C	102136688	0.547000	0.26465	0.732000	0.30844	0.721000	0.41392	0.541000	0.23207	-0.095000	0.12351	0.528000	0.53228	CAT		0.418	METTL21C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045682.2	NM_001010977		19	42	0	0	0	1	0	19	42					T	103338687	A	T	103338687	3	4	132	1	0	0	0	0	1	0	0	0	1732	330	12	5	309	5	C13orf39	13	103338687	Missense_Mutation	SNP	A	TCGA-EJ-A7NM-01A-21D-A33T-08	81937404	103338687	11831191	47	6754											
MYH7	4625	broad.mit.edu	37	chr14	23887454	23887454	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctcagtccgctgaatggcGtccgtctcatacttggtcct	5	13	9	14	3	2	1	2	1	1	0	7	1	6	1	4	2	1	1	4	2	2	2			TCGA-EJ-A7NM-01A-21D-A33T-08	TCGA-EJ-A7NM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da5750e6-fb1c-4bd9-9fc7-fa93504b0690	0892efc4-b6f5-47e3-befe-b685ebb7d359	g.chr14:23887454G>A	ENST00000355349.3	-	30	4296	c.4134C>T	c.(4132-4134)gaC>gaT	p.D1378D	CTD-2201G16.1_ENST00000557368.1_RNA|MIR208B_ENST00000401172.1_RNA	NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	1378					adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|myosin complex (GO:0016459)|myosin filament (GO:0032982)|nucleus (GO:0005634)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		GCTGAATGGCGTCCGTCTCAT	0.632																																						ENST00000355349.3																			0				NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137						c.(4132-4134)gaC>gaT		myosin, heavy chain 7, cardiac muscle, beta							91	88	89					14																	23887454		2203	4300	6503	SO:0001819	synonymous_variant	4625				adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr14:23887454G>A	M58018	CCDS9601.1	14q11.2-q13	2014-09-17	2006-09-29		ENSG00000092054	ENSG00000092054		"Myosins / Myosin superfamily : Class II"	7577	protein-coding gene	gene with protein product		160760	"myopathy, distal 1", "myosin, heavy polypeptide 7, cardiac muscle, beta"	CMH1, MPD1		2494889, 8483915, 15322983	Standard	XM_005267696		Approved	CMD1S	uc001wjx.3	P12883	OTTHUMG00000028755	ENST00000355349.3:c.4134C>T	14.37:g.23887454G>A							p.D1378D	NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN		GBM - Glioblastoma multiforme(265;0.00725)	30	4296	-	all_cancers(95;2.54e-05)		1378					A2TDB6|B6D424|Q14836|Q14837|Q14904|Q16579|Q2M1Y6|Q92679|Q9H1D5|Q9UDA2|Q9UMM8	Silent	SNP	ENST00000355349.3	37	c.4134C>T	CCDS9601.1																																																																																				0.632	MYH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071798.3	NM_000257		7	114	0	0	0	1	0	7	114					A	23887454	G	A	23887454	2	1	132	1	0	0	0	0	0	0	0	1	10039	1136	40	1		1	MYH7	14	23887454	Silent	SNP	G	TCGA-EJ-A7NM-01A-21D-A33T-08		23887454	83462086	48	6755											
ZFYVE1	53349	broad.mit.edu	37	chr14	73464594	73464594	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	cagtgtggataaagggacatCcaggccacagcgagcagtgg	12	5	15	9	1	0	0	0	0	0	0	1	3	1	2	2	4	2	1	2	4	2	1			TCGA-EJ-A7NM-01A-21D-A33T-08	TCGA-EJ-A7NM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da5750e6-fb1c-4bd9-9fc7-fa93504b0690	0892efc4-b6f5-47e3-befe-b685ebb7d359	g.chr14:73464594C>G	ENST00000556143.1	-	3	1633	c.913G>C	c.(913-915)Gat>Cat	p.D305H	ZFYVE1_ENST00000318876.5_Missense_Mutation_p.D305H|ZFYVE1_ENST00000553891.1_Missense_Mutation_p.D305H	NM_001281735.1|NM_021260.2	NP_001268664.1|NP_067083.1	Q9HBF4	ZFYV1_HUMAN	zinc finger, FYVE domain containing 1	305					negative regulation of phosphatase activity (GO:0010923)	autophagic vacuole (GO:0005776)|endoplasmic reticulum (GO:0005783)|ER-mitochondrion membrane contact site (GO:0044233)|Golgi stack (GO:0005795)|perinuclear region of cytoplasm (GO:0048471)|pre-autophagosomal structure (GO:0000407)	1-phosphatidylinositol binding (GO:0005545)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(17)|ovary(1)|prostate(2)|skin(1)	35		all_lung(585;1.33e-09)		OV - Ovarian serous cystadenocarcinoma(108;1.6e-46)|BRCA - Breast invasive adenocarcinoma(234;0.00349)		AAAGGGACATCCAGGCCACAG	0.542																																						ENST00000556143.1																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(17)|ovary(1)|prostate(2)|skin(1)	35						c.(913-915)Gat>Cat		zinc finger, FYVE domain containing 1							73	62	66					14																	73464594		2203	4300	6503	SO:0001583	missense	53349					endoplasmic reticulum|Golgi stack|perinuclear region of cytoplasm	1-phosphatidylinositol binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|zinc ion binding	g.chr14:73464594C>G	AF251025	CCDS9811.1, CCDS41969.1, CCDS61498.1	14q24.2	2014-06-13	2003-02-28	2003-03-07		ENSG00000165861		"Zinc fingers, FYVE domain containing"	13180	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 172"	605471	"zinc finger protein, subfamily 2A (FYVE domain containing), 1"	ZNFN2A1		11024279, 11256955	Standard	NM_021260		Approved	DFCP1, KIAA1589, TAFF1, PPP1R172	uc001xnm.3	Q9HBF4		ENST00000556143.1:c.913G>C	14.37:g.73464594C>G	ENSP00000450742:p.Asp305His					ZFYVE1_ENST00000318876.5_Missense_Mutation_p.D305H|ZFYVE1_ENST00000553891.1_Missense_Mutation_p.D305H	p.D305H	NM_021260.2	NP_067083.1	Q9HBF4	ZFYV1_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;1.6e-46)|BRCA - Breast invasive adenocarcinoma(234;0.00349)	3	1633	-		all_lung(585;1.33e-09)	305					J3KNL9|Q8WYX7|Q96K57|Q9BXP9|Q9HCI3	Missense_Mutation	SNP	ENST00000556143.1	37	c.913G>C	CCDS9811.1	.	.	.	.	.	.	.	.	.	.	C	27.2	4.811025	0.90707	.	.	ENSG00000165861	ENST00000553891;ENST00000318876;ENST00000556143	T;T;T	0.65732	-0.17;-0.16;-0.17	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	T	0.78824	0.4344	M	0.68952	2.095	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.70227	0.965;0.968	T	0.79555	-0.1755	10	0.72032	D	0.01	-21.8098	19.869	0.96843	0.0:1.0:0.0:0.0	.	305;305	G3V5N8;Q9HBF4	.;ZFYV1_HUMAN	H	305	ENSP00000452442:D305H;ENSP00000326921:D305H;ENSP00000450742:D305H	ENSP00000326921:D305H	D	-	1	0	ZFYVE1	72534347	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.747000	0.85070	2.709000	0.92574	0.591000	0.81541	GAT		0.542	ZFYVE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413172.1	NM_021260		17	24	0	0	0	1	0	17	24					G	73464594	C	G	73464594	3	3	132	1	0	0	0	0	1	0	0	0	17660	855	30	5	1460	5	ZFYVE1	14	73464594	Missense_Mutation	SNP	C	TCGA-EJ-A7NM-01A-21D-A33T-08	49577140	73464594	33884946	49	6756											
FLRT2	23768	broad.mit.edu	37	chr14	86089489	86089489	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggctccccctttctgctggCgggcttgatcgggggcgcgg	1	9	18	13	4	1	1	0	1	1	0	3	1	2	1	2	6	1	3	2	6	0	2	rs567090913		TCGA-EJ-A7NM-01A-21D-A33T-08	TCGA-EJ-A7NM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da5750e6-fb1c-4bd9-9fc7-fa93504b0690	0892efc4-b6f5-47e3-befe-b685ebb7d359	g.chr14:86089489C>T	ENST00000330753.4	+	2	2398	c.1631C>T	c.(1630-1632)gCg>gTg	p.A544V	FLRT2_ENST00000554746.1_Missense_Mutation_p.A544V	NM_013231.4	NP_037363.1	O43155	FLRT2_HUMAN	fibronectin leucine rich transmembrane protein 2	544					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|intracellular signal transduction (GO:0035556)|regulation of neuron migration (GO:2001222)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|proteinaceous extracellular matrix (GO:0005578)	chemorepellent activity (GO:0045499)|protein binding, bridging (GO:0030674)|receptor signaling protein activity (GO:0005057)			NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	73				BRCA - Breast invasive adenocarcinoma(234;0.0319)		TTTCTGCTGGCGGGCTTGATC	0.597													C|||	1	0.000199681	0	0	5008	,	,		16140	0		0	False		,,,				2504	0.001					ENST00000330753.4																			0				NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	73						c.(1630-1632)gCg>gTg		fibronectin leucine rich transmembrane protein 2							85	89	88					14																	86089489		2203	4300	6503	SO:0001583	missense	23768				cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity	g.chr14:86089489C>T	AF169676	CCDS9877.1	14q24-q32	2013-02-11				ENSG00000185070		"Fibronectin type III domain containing"	3761	protein-coding gene	gene with protein product		604807				10644439, 16872596	Standard	XM_005267490		Approved		uc001xvr.3	O43155		ENST00000330753.4:c.1631C>T	14.37:g.86089489C>T	ENSP00000332879:p.Ala544Val					FLRT2_ENST00000554746.1_Missense_Mutation_p.A544V	p.A544V	NM_013231.4	NP_037363.1	O43155	FLRT2_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0319)	2	2398	+			544					A0AV84|B7ZLP3	Missense_Mutation	SNP	ENST00000330753.4	37	c.1631C>T	CCDS9877.1	.	.	.	.	.	.	.	.	.	.	C	25.0	4.592210	0.86953	.	.	ENSG00000185070	ENST00000330753;ENST00000554746;ENST00000535800	T;T	0.62498	0.02;0.02	6.17	6.17	0.99709	.	0.051078	0.85682	D	0.000000	T	0.79064	0.4383	M	0.64404	1.975	0.80722	D	1	D	0.89917	1.0	D	0.76071	0.987	T	0.77571	-0.2538	10	0.62326	D	0.03	-19.6477	20.8794	0.99867	0.0:1.0:0.0:0.0	.	544	O43155	FLRT2_HUMAN	V	544;544;197	ENSP00000332879:A544V;ENSP00000451050:A544V	ENSP00000332879:A544V	A	+	2	0	FLRT2	85159242	1.000000	0.71417	0.977000	0.42913	0.901000	0.52897	7.817000	0.86213	2.941000	0.99782	0.655000	0.94253	GCG		0.597	FLRT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413193.1			41	89	0	0	0	1	0	41	89					T	86089489	C	T	86089489	3	4	132	1	0	0	0	0	1	0	0	0	5939	768	27	1	1633	1	FLRT2	14	86089489	Missense_Mutation	SNP	C	TCGA-EJ-A7NM-01A-21D-A33T-08	12624895	86089489	21260051	50	6757											
SERPINA3	12	broad.mit.edu	37	chr14	95085708	95085708	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agtacacaggcaatgccagcGcactcttcatcctccctgat	10	9	7	15	1	2	1	1	1	1	0	4	1	4	1	3	1	3	3	3	1	2	2	rs144237088	byFrequency	TCGA-EJ-A7NM-01A-21D-A33T-08	TCGA-EJ-A7NM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da5750e6-fb1c-4bd9-9fc7-fa93504b0690	0892efc4-b6f5-47e3-befe-b685ebb7d359	g.chr14:95085708G>A	ENST00000467132.1	+	3	1968	c.820G>A	c.(820-822)Gca>Aca	p.A274T	SERPINA3_ENST00000482740.1_Missense_Mutation_p.A56T|RP11-986E7.7_ENST00000553947.1_3'UTR|SERPINA3_ENST00000393080.4_Missense_Mutation_p.A274T|SERPINA3_ENST00000393078.3_Missense_Mutation_p.A274T			P01011	AACT_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3	274					acute-phase response (GO:0006953)|inflammatory response (GO:0006954)|maintenance of gastrointestinal epithelium (GO:0030277)|negative regulation of endopeptidase activity (GO:0010951)|regulation of lipid metabolic process (GO:0019216)|regulation of proteolysis (GO:0030162)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|nucleus (GO:0005634)	DNA binding (GO:0003677)|serine-type endopeptidase inhibitor activity (GO:0004867)			NS(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(17)|ovary(2)|pancreas(1)|skin(3)|stomach(1)	40		all_cancers(154;0.0525)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.212)|Epithelial(152;0.228)		CAATGCCAGCGCACTCTTCAT	0.557																																						ENST00000553947.1																			0				NS(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(17)|ovary(2)|pancreas(1)|skin(3)|stomach(1)	40						c.(895-897)Gca>Aca		serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3		G	THR/ALA	2,4404	4.2+/-10.8	0,2,2201	97	76	83		820	3.9	0.1	14	dbSNP_134	83	0,8596		0,0,4298	no	missense	SERPINA3	NM_001085.4	58	0,2,6499	AA,AG,GG		0.0,0.0454,0.0154	probably-damaging	274/424	95085708	2,13000	2203	4298	6501	SO:0001583	missense	12				acute-phase response|maintenance of gastrointestinal epithelium|regulation of lipid metabolic process|regulation of proteolysis	extracellular region|nucleus	DNA binding|protein binding|serine-type endopeptidase inhibitor activity	g.chr14:95085708G>A	K01500	CCDS32150.1	14q32.1	2014-06-03	2005-08-18		ENSG00000196136	ENSG00000196136		"Serine (or cysteine) peptidase inhibitors"	16	protein-coding gene	gene with protein product		107280	"alpha-1-antichymotrypsin", "serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3"	AACT		3260956, 24172014	Standard	NM_001085		Approved	ACT, alpha-1-antichymotrypsin	uc001ydp.3	P01011	OTTHUMG00000029851	ENST00000467132.1:c.820G>A	14.37:g.95085708G>A	ENSP00000450540:p.Ala274Thr					SERPINA3_ENST00000393080.4_Missense_Mutation_p.A274T|SERPINA3_ENST00000482740.1_Missense_Mutation_p.A56T|SERPINA3_ENST00000467132.1_Missense_Mutation_p.A274T|SERPINA3_ENST00000393078.3_Missense_Mutation_p.A274T|SERPINA3_ENST00000556388.1_Intron	p.A299T			P01011	AACT_HUMAN		COAD - Colon adenocarcinoma(157;0.212)|Epithelial(152;0.228)	6	1783	+		all_cancers(154;0.0525)|all_epithelial(191;0.179)	274					B3KVQ7|Q13703|Q2TU87|Q2TU88|Q59GP9|Q6LBY8|Q6LDT7|Q6NSC9|Q8N177|Q96DW8|Q9UC47|Q9UNU9	Missense_Mutation	SNP	ENST00000467132.1	37	c.895G>A	CCDS32150.1	.	.	.	.	.	.	.	.	.	.	G	15.83	2.949935	0.53186	4.54E-4	0.0	ENSG00000196136	ENST00000553947;ENST00000393078;ENST00000393080;ENST00000555820;ENST00000467132;ENST00000482740	D;D;D;D;D	0.84589	-1.87;-1.87;-1.87;-1.87;-1.87	4.75	3.86	0.44501	Serpin domain (3);	0.086334	0.48767	N	0.000180	D	0.88194	0.6371	L	0.58969	1.84	0.36381	D	0.861945	D;D	0.64830	0.994;0.981	P;P	0.58331	0.837;0.572	D	0.91023	0.4858	10	0.72032	D	0.01	.	11.9277	0.52829	0.0835:0.0:0.9165:0.0	.	274;299	P01011;G3V5I3	AACT_HUMAN;.	T	299;274;274;274;274;56	ENSP00000452367:A299T;ENSP00000376793:A274T;ENSP00000376795:A274T;ENSP00000450540:A274T;ENSP00000451119:A56T	ENSP00000376793:A274T	A	+	1	0	SERPINA3	94155461	0.776000	0.28616	0.139000	0.22197	0.071000	0.16799	2.322000	0.43814	1.223000	0.43536	0.556000	0.70494	GCA		0.557	SERPINA3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268080.3	NM_001085		17	21	0	0	0	1	0	17	21					A	95085708	G	A	95085708	3	1	132	1	0	0	0	0	1	0	0	0	14090	1087	38	1	826	1	SERPINA3	14	95085708	Missense_Mutation	SNP	G	TCGA-EJ-A7NM-01A-21D-A33T-08	8996219	95085708	12263832	51	6758											
RFX7	64864	broad.mit.edu	37	chr15	56390461	56390461	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgcttcttctggattttccGttgcaactgctgtttagcat	5	18	8	10	1	2	0	0	0	2	0	3	1	3	1	1	1	5	6	1	1	2	7			TCGA-EJ-A7NM-01A-21D-A33T-08	TCGA-EJ-A7NM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da5750e6-fb1c-4bd9-9fc7-fa93504b0690	0892efc4-b6f5-47e3-befe-b685ebb7d359	g.chr15:56390461G>A	ENST00000559447.2	-	8	905	c.634C>T	c.(634-636)Cgg>Tgg	p.R212W	RFX7_ENST00000422057.1_Missense_Mutation_p.R212W|RFX7_ENST00000317318.6_Missense_Mutation_p.R309W|RFX7_ENST00000423270.1_Missense_Mutation_p.R309W			Q2KHR2	RFX7_HUMAN	regulatory factor X, 7	212					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	DNA binding (GO:0003677)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						TGGATTTTCCGTTGCAACTGC	0.438																																						ENST00000423270.1																			0				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						c.(925-927)Cgg>Tgg		regulatory factor X, 7							104	98	100					15																	56390461		1865	4116	5981	SO:0001583	missense	64864				regulation of transcription, DNA-dependent	nucleus	DNA binding	g.chr15:56390461G>A			15q21.3	2008-08-04	2008-08-04	2008-08-04		ENSG00000181827			25777	protein-coding gene	gene with protein product		612660	"regulatory factor X domain containing 2"	RFXDC2			Standard	NM_022841		Approved	FLJ12994	uc010bfn.3	Q2KHR2		ENST00000559447.2:c.634C>T	15.37:g.56390461G>A	ENSP00000453281:p.Arg212Trp					RFX7_ENST00000559447.2_Missense_Mutation_p.R212W|RFX7_ENST00000317318.6_Missense_Mutation_p.R309W|RFX7_ENST00000422057.1_Missense_Mutation_p.R212W	p.R309W	NM_022841.5	NP_073752.5	Q2KHR2	RFX7_HUMAN			8	924	-			212					Q6ZRR1|Q6ZTY6|Q8N3J0|Q9H7A9|Q9H956	Missense_Mutation	SNP	ENST00000559447.2	37	c.925C>T		.	.	.	.	.	.	.	.	.	.	G	19.23	3.786703	0.70337	.	.	ENSG00000181827	ENST00000422057;ENST00000317318;ENST00000423270	T;T;T	0.60672	0.2;0.17;0.18	5.54	3.61	0.41365	.	0.000000	0.64402	D	0.000004	T	0.62527	0.2435	N	0.24115	0.695	0.53688	D	0.999973	D;D	0.89917	1.0;1.0	D;D	0.91635	0.995;0.999	T	0.65829	-0.6073	10	0.87932	D	0	-14.9807	13.0385	0.58885	0.0:0.0:0.5759:0.4241	.	212;212	Q2KHR2;C9JU50	RFX7_HUMAN;.	W	212;309;309	ENSP00000387504:R212W;ENSP00000313299:R309W;ENSP00000397644:R309W	ENSP00000313299:R309W	R	-	1	2	RFX7	54177753	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.774000	0.47694	0.765000	0.33221	0.655000	0.94253	CGG		0.438	RFX7-001	KNOWN	non_canonical_U12|basic	protein_coding	protein_coding	OTTHUMT00000418841.3	NM_022841		9	26	0	0	0	1	0	9	26					A	56390461	G	A	56390461	3	1	132	1	0	0	0	0	1	0	0	0	13268	1144	40	1	3465	1	RFX7	15	56390461	Missense_Mutation	SNP	G	TCGA-EJ-A7NM-01A-21D-A33T-08		56390461	46140931	52	6759											
C16orf45	89927	broad.mit.edu	37	chr16	15609240	15609240	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagatggcaaaaattcagcGtctccgggaagtcttggtcc	10	9	13	9	2	3	1	1	0	2	1	5	3	4	2	2	4	1	1	2	4	3	2	rs201932527		TCGA-EJ-A7NM-01A-21D-A33T-08	TCGA-EJ-A7NM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da5750e6-fb1c-4bd9-9fc7-fa93504b0690	0892efc4-b6f5-47e3-befe-b685ebb7d359	g.chr16:15609240G>A	ENST00000300006.4	+	2	544	c.185G>A	c.(184-186)cGt>cAt	p.R62H	C16orf45_ENST00000561692.1_Missense_Mutation_p.R14H|C16orf45_ENST00000566490.1_Missense_Mutation_p.R62H|C16orf45_ENST00000452191.2_Missense_Mutation_p.R45H	NM_033201.2	NP_149978.1	Q96MC5	CP045_HUMAN	chromosome 16 open reading frame 45	62										endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|ovary(1)	11						AAAATTCAGCGTCTCCGGGAA	0.522																																						ENST00000300006.4																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|ovary(1)	11						c.(184-186)cGt>cAt		chromosome 16 open reading frame 45		G	HIS/ARG,HIS/ARG	1,4393	2.1+/-5.4	0,1,2196	125	107	113		134,185	5.1	1	16		113	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	C16orf45	NM_001142469.1,NM_033201.2	29,29	0,2,6495	AA,AG,GG		0.0116,0.0228,0.0154	probably-damaging,probably-damaging	45/188,62/205	15609240	2,12992	2197	4300	6497	SO:0001583	missense	89927							g.chr16:15609240G>A	AK057180	CCDS10561.1, CCDS45422.1	16p13.2	2012-10-09			ENSG00000166780	ENSG00000166780			19213	protein-coding gene	gene with protein product							Standard	NM_033201		Approved	FLJ32618	uc002ddo.3	Q96MC5	OTTHUMG00000129883	ENST00000300006.4:c.185G>A	16.37:g.15609240G>A	ENSP00000300006:p.Arg62His					C16orf45_ENST00000561692.1_Missense_Mutation_p.R14H|C16orf45_ENST00000452191.2_Missense_Mutation_p.R45H|C16orf45_ENST00000566490.1_Missense_Mutation_p.R62H	p.R62H	NM_033201.2	NP_149978.1	Q96MC5	CP045_HUMAN			2	544	+			62					O00223|O75769|Q8IZ36|Q96H25	Missense_Mutation	SNP	ENST00000300006.4	37	c.185G>A	CCDS10561.1	.	.	.	.	.	.	.	.	.	.	G	25.3	4.626716	0.87560	2.28E-4	1.16E-4	ENSG00000166780	ENST00000300006;ENST00000452191	T;T	0.47177	0.85;0.85	5.14	5.14	0.70334	Domain of unknown function DUF3585 (1);	0.000000	0.85682	D	0.000000	T	0.57989	0.2091	L	0.45422	1.42	0.58432	D	0.999997	D;D	0.89917	1.0;1.0	D;D	0.87578	0.997;0.998	T	0.49934	-0.8886	10	0.10111	T	0.7	-4.1225	16.0851	0.81042	0.0:0.0:1.0:0.0	.	6;62	B4DE25;Q96MC5	.;CP045_HUMAN	H	62;45	ENSP00000300006:R62H;ENSP00000408976:R45H	ENSP00000300006:R62H	R	+	2	0	C16orf45	15516741	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	8.232000	0.89796	2.356000	0.79943	0.655000	0.94253	CGT		0.522	C16orf45-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252130.2	NM_033201		7	24	0	0	0	1	0	7	24					A	15609240	G	A	15609240	3	1	132	1	0	0	0	0	1	0	0	0	1814	1145	40	1	250	1	C16orf45	16	15609240	Missense_Mutation	SNP	G	TCGA-EJ-A7NM-01A-21D-A33T-08		15609240	74745513	53	6760											
LOC81691	81691	broad.mit.edu	37	chr16	20855295	20855295	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atgaagtcctagaagctgccCagctggccatagaatccttg	11	9	10	11	0	0	3	0	1	0	2	2	3	2	3	4	1	3	2	4	1	5	3			TCGA-EJ-A7NM-01A-21D-A33T-08	TCGA-EJ-A7NM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da5750e6-fb1c-4bd9-9fc7-fa93504b0690	0892efc4-b6f5-47e3-befe-b685ebb7d359	g.chr16:20855295C>T	ENST00000261377.6	+	16	1875	c.1666C>T	c.(1666-1668)Cag>Tag	p.Q556*	ERI2_ENST00000564349.1_Intron|AC004381.6_ENST00000348433.6_Intron|AC004381.6_ENST00000564274.1_Nonsense_Mutation_p.Q556*	NM_001199053.1|NM_030941.2	NP_001185982.1|NP_112203.2																					AGAAGCTGCCCAGCTGGCCAT	0.483																																						ENST00000261377.6																			0											c.(1666-1668)Cag>Tag									115	110	112					16																	20855295		2201	4300	6501	SO:0001587	stop_gained	0							g.chr16:20855295C>T																												ENST00000261377.6:c.1666C>T	16.37:g.20855295C>T	ENSP00000261377:p.Gln556*					AC004381.6_ENST00000564274.1_Nonsense_Mutation_p.Q556*|ERI2_ENST00000564349.1_Intron|AC004381.6_ENST00000348433.6_Intron	p.Q556*	NM_001199053.1|NM_030941.2	NP_001185982.1|NP_112203.2					16	1875	+									Nonsense_Mutation	SNP	ENST00000261377.6	37	c.1666C>T	CCDS10591.1	.	.	.	.	.	.	.	.	.	.	C	37	6.361128	0.97507	.	.	ENSG00000005189	ENST00000261377	.	.	.	5.39	4.42	0.53409	.	0.181902	0.39146	N	0.001452	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	-14.9165	14.2069	0.65739	0.1509:0.8491:0.0:0.0	.	.	.	.	X	556	.	ENSP00000261377:Q556X	Q	+	1	0	AC004381.6	20762796	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	4.498000	0.60373	1.222000	0.43521	0.561000	0.74099	CAG		0.483	AC004381.6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254418.2			22	70	0	0	0	1	0	22	70					T	20855295	C	T	20855295	4	4	132	1	0	0	0	0	0	1	0	0	8890	595	21	3	1724	3	LOC81691	16	20855295	Nonsense_Mutation	SNP	C	TCGA-EJ-A7NM-01A-21D-A33T-08	5246055	20855295	69499458	54	6761											
ZFHX3	463	broad.mit.edu	37	chr16	72991718	72991718	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgccgccgccgcagccaccGccgccgccgccgccccggca	3	0	12	26	10	0	0	0	0	0	0	0	0	0	0	12	1	1	2	12	1	0	0	rs544025035	byFrequency	TCGA-EJ-A7NM-01A-21D-A33T-08	TCGA-EJ-A7NM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da5750e6-fb1c-4bd9-9fc7-fa93504b0690	0892efc4-b6f5-47e3-befe-b685ebb7d359	g.chr16:72991718G>A	ENST00000268489.5	-	2	2999	c.2327C>T	c.(2326-2328)gCg>gTg	p.A776V	ZFHX3_ENST00000397992.5_Intron	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	776	Poly-Ala.				brain development (GO:0007420)|cell cycle arrest (GO:0007050)|muscle organ development (GO:0007517)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of myoblast differentiation (GO:0045663)|regulation of neuron differentiation (GO:0045664)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	enzyme binding (GO:0019899)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				cgcagccaccgccgccgccgc	0.637													G|||	3	0.000599042	0	0.0014	5008	,	,		9476	0		0	False		,,,				2504	0.002					ENST00000268489.5																			0				NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153						c.(2326-2328)gCg>gTg		zinc finger homeobox 3							12	19	16					16																	72991718		2087	4047	6134	SO:0001583	missense	463				muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr16:72991718G>A	D10250	CCDS10908.1, CCDS54035.1	16q22.3	2012-03-09	2007-08-09	2007-08-09	ENSG00000140836	ENSG00000140836		"Zinc fingers, C2H2-type", "Homeoboxes / ZF class"	777	protein-coding gene	gene with protein product		104155	"AT-binding transcription factor 1"	ATBF1		1719379, 7592926	Standard	NM_006885		Approved	ZNF927	uc002fck.3	Q15911	OTTHUMG00000137599	ENST00000268489.5:c.2327C>T	16.37:g.72991718G>A	ENSP00000268489:p.Ala776Val					ZFHX3_ENST00000397992.5_Intron	p.A776V	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN			2	2999	-		Ovarian(137;0.13)	776			Poly-Ala.		D3DWS8|O15101|Q13719	Missense_Mutation	SNP	ENST00000268489.5	37	c.2327C>T	CCDS10908.1	.	.	.	.	.	.	.	.	.	.	G	9.550	1.115674	0.20795	.	.	ENSG00000140836	ENST00000268489	T	0.74421	-0.84	5.49	4.53	0.55603	.	0.000000	0.36555	U	0.002527	T	0.50922	0.1644	N	0.08118	0	0.80722	D	1	P	0.43352	0.804	B	0.30251	0.113	T	0.57021	-0.7882	10	0.39692	T	0.17	.	15.7111	0.77629	0.0:0.0:0.8622:0.1378	.	776	Q15911	ZFHX3_HUMAN	V	776	ENSP00000268489:A776V	ENSP00000268489:A776V	A	-	2	0	ZFHX3	71549219	1.000000	0.71417	0.033000	0.17914	0.031000	0.12232	4.329000	0.59260	1.309000	0.44985	0.561000	0.74099	GCG		0.637	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269008.1	NM_006885		14	30	0	0	0	1	0	14	30					A	72991718	G	A	72991718	3	1	132	1	0	0	0	0	1	0	0	0	17631	1087	38	1	8820	1	ZFHX3	16	72991718	Missense_Mutation	SNP	G	TCGA-EJ-A7NM-01A-21D-A33T-08	52136423	72991718	17363035	55	6762											
KDM4B	23030	broad.mit.edu	37	chr19	5077467	5077467	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcatcctgaagaagtacgggAtccccttcagccgggtgcgt	8	9	12	12	3	2	2	2	1	0	1	4	3	4	3	4	2	3	1	4	2	3	2			TCGA-EJ-A7NM-01A-21D-A33T-08	TCGA-EJ-A7NM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da5750e6-fb1c-4bd9-9fc7-fa93504b0690	0892efc4-b6f5-47e3-befe-b685ebb7d359	g.chr19:5077467A>G	ENST00000159111.4	+	8	984	c.766A>G	c.(766-768)Atc>Gtc	p.I256V	KDM4B_ENST00000536461.1_Missense_Mutation_p.I256V|KDM4B_ENST00000592175.1_3'UTR|KDM4B_ENST00000381759.4_Missense_Mutation_p.I256V	NM_015015.2	NP_055830	O94953	KDM4B_HUMAN	lysine (K)-specific demethylase 4B	256	JmjC. {ECO:0000255|PROSITE- ProRule:PRU00538}.				chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(1)|liver(1)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32						GAAGTACGGGATCCCCTTCAG	0.642																																						ENST00000159111.4																			0				breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(1)|liver(1)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32						c.(766-768)Atc>Gtc		lysine (K)-specific demethylase 4B							98	98	98					19																	5077467		2203	4300	6503	SO:0001583	missense	23030				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding	g.chr19:5077467A>G	AB020683	CCDS12138.1	19p13.3	2013-01-23	2009-04-06	2009-04-06		ENSG00000127663		"Chromatin-modifying enzymes / K-demethylases", "Tudor domain containing"	29136	protein-coding gene	gene with protein product	"tudor domain containing 14B"	609765	"jumonji domain containing 2B"	JMJD2B		10048485, 15138608	Standard	NM_015015		Approved	KIAA0876, TDRD14B	uc002mbq.4	O94953		ENST00000159111.4:c.766A>G	19.37:g.5077467A>G	ENSP00000159111:p.Ile256Val					KDM4B_ENST00000592175.1_3'UTR|KDM4B_ENST00000536461.1_Missense_Mutation_p.I256V|KDM4B_ENST00000381759.4_Missense_Mutation_p.I256V	p.I256V	NM_015015.2	NP_055830.1	O94953	KDM4B_HUMAN			8	984	+			256			JmjC.		B9EGN8|D6W631|O75274|Q6P3R5|Q9P1V1|Q9UF40	Missense_Mutation	SNP	ENST00000159111.4	37	c.766A>G	CCDS12138.1	.	.	.	.	.	.	.	.	.	.	A	22.5	4.304270	0.81136	.	.	ENSG00000127663	ENST00000159111;ENST00000381759;ENST00000536461	T;T;T	0.72835	-0.69;-0.69;-0.69	4.52	4.52	0.55395	Transcription factor jumonji/aspartyl beta-hydroxylase (2);Transcription factor jumonji (1);	0.000000	0.85682	D	0.000000	T	0.63988	0.2558	N	0.25332	0.735	0.80722	D	1	B;P;B	0.42827	0.05;0.791;0.166	B;P;P	0.45971	0.188;0.499;0.474	T	0.65170	-0.6233	10	0.40728	T	0.16	-32.4144	13.8579	0.63540	1.0:0.0:0.0:0.0	.	256;256;256	F5GX28;O94953-2;O94953	.;.;KDM4B_HUMAN	V	256	ENSP00000159111:I256V;ENSP00000371178:I256V;ENSP00000440495:I256V	ENSP00000159111:I256V	I	+	1	0	KDM4B	5028467	1.000000	0.71417	0.997000	0.53966	0.994000	0.84299	9.110000	0.94302	1.679000	0.50963	0.379000	0.24179	ATC		0.642	KDM4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450558.1	NM_015015		4	150	0	0	0	1	0	4	150					G	5077467	A	G	5077467	3	3	132	1	0	0	0	0	1	0	0	0	8129	333	12	4	788	4	KDM4B	19	5077467	Missense_Mutation	SNP	A	TCGA-EJ-A7NM-01A-21D-A33T-08		5077467	54051516	56	6763											
ZNF490	57474	broad.mit.edu	37	chr19	12691963	12691963	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgaaggctttcccacattgcTtacattcataaggtttctct	9	16	6	10	0	2	1	1	1	1	0	4	1	3	1	1	2	2	3	1	2	3	6			TCGA-EJ-A7NM-01A-21D-A33T-08	TCGA-EJ-A7NM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da5750e6-fb1c-4bd9-9fc7-fa93504b0690	0892efc4-b6f5-47e3-befe-b685ebb7d359	g.chr19:12691963T>A	ENST00000311437.6	-	5	1048	c.926A>T	c.(925-927)aAg>aTg	p.K309M	CTD-2192J16.20_ENST00000593682.1_5'Flank|ZNF490_ENST00000465656.1_5'Flank	NM_020714.2	NP_065765.1	Q9ULM2	ZN490_HUMAN	zinc finger protein 490	309					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	18						CCCACATTGCTTACATTCATA	0.423																																						ENST00000311437.6																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	18						c.(925-927)aAg>aTg		zinc finger protein 490							81	77	78					19																	12691963		2203	4300	6503	SO:0001583	missense	57474				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12691963T>A	AB033024	CCDS12272.1	19p13.2	2013-01-08			ENSG00000188033	ENSG00000188033		"Zinc fingers, C2H2-type", "-"	23705	protein-coding gene	gene with protein product							Standard	NM_020714		Approved	KIAA1198	uc002mtz.2	Q9ULM2	OTTHUMG00000156398	ENST00000311437.6:c.926A>T	19.37:g.12691963T>A	ENSP00000311521:p.Lys309Met						p.K309M	NM_020714.2	NP_065765.1	Q9ULM2	ZN490_HUMAN			5	1048	-			309						Missense_Mutation	SNP	ENST00000311437.6	37	c.926A>T	CCDS12272.1	.	.	.	.	.	.	.	.	.	.	T	17.03	3.285860	0.59867	.	.	ENSG00000188033	ENST00000311437	T	0.08193	3.12	0.996	-0.191	0.13252	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.20495	0.0493	M	0.69358	2.11	0.09310	N	0.999999	D	0.71674	0.998	D	0.69307	0.963	T	0.07751	-1.0756	9	0.87932	D	0	.	6.2323	0.20742	0.0:0.0:0.5081:0.4919	.	309	Q9ULM2	ZN490_HUMAN	M	309	ENSP00000311521:K309M	ENSP00000311521:K309M	K	-	2	0	ZNF490	12552963	0.000000	0.05858	0.112000	0.21494	0.897000	0.52465	-1.409000	0.02483	-0.124000	0.11724	0.402000	0.26972	AAG		0.423	ZNF490-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344073.1	NM_020714		4	87	0	0	0	1	0	4	87					A	12691963	T	A	12691963	3	1	132	1	0	0	0	0	1	0	0	0	17938	1609	56	5	667	5	ZNF490	19	12691963	Missense_Mutation	SNP	T	TCGA-EJ-A7NM-01A-21D-A33T-08	7614496	12691963	46437020	57	6764											
ABHD8	79575	broad.mit.edu	37	chr19	17412032	17412032	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gctgcctgcgctgccgggggCcaagcggccatcgctgcccg	3	5	16	17	5	0	0	0	0	0	0	1	0	0	0	5	3	5	3	5	3	1	0			TCGA-EJ-A7NM-01A-21D-A33T-08	TCGA-EJ-A7NM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da5750e6-fb1c-4bd9-9fc7-fa93504b0690	0892efc4-b6f5-47e3-befe-b685ebb7d359	g.chr19:17412032C>T	ENST00000247706.3	-	2	633	c.394G>A	c.(394-396)Gcc>Acc	p.A132T	MRPL34_ENST00000600434.1_Intron|MRPL34_ENST00000595444.1_Intron|MRPL34_ENST00000594999.1_5'Flank	NM_024527.4	NP_078803.4	Q96I13	ABHD8_HUMAN	abhydrolase domain containing 8	132							hydrolase activity (GO:0016787)			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(5)|urinary_tract(1)	9						ctgccgGGGGCCAAGCGGCCA	0.726																																					Ovarian(156;1368 2543 15275 41187)	ENST00000247706.3																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|lung(5)|urinary_tract(1)	9						c.(394-396)Gcc>Acc		abhydrolase domain containing 8							9	11	10					19																	17412032		1889	3736	5625	SO:0001583	missense	79575						hydrolase activity	g.chr19:17412032C>T	AK021805	CCDS12355.1	19p13.12	2010-12-09			ENSG00000127220	ENSG00000127220		"Abhydrolase domain containing"	23759	protein-coding gene	gene with protein product						12477932	Standard	NM_024527		Approved	FLJ11743, MGC14280, MGC2512	uc002ngb.4	Q96I13		ENST00000247706.3:c.394G>A	19.37:g.17412032C>T	ENSP00000247706:p.Ala132Thr					MRPL34_ENST00000600434.1_Intron|MRPL34_ENST00000595444.1_Intron	p.A132T	NM_024527.4	NP_078803.4	Q96I13	ABHD8_HUMAN			2	633	-			132					Q9HAE9	Missense_Mutation	SNP	ENST00000247706.3	37	c.394G>A	CCDS12355.1	.	.	.	.	.	.	.	.	.	.	C	1.807	-0.475713	0.04414	.	.	ENSG00000127220	ENST00000247706;ENST00000544788	T	0.30448	1.53	5.33	3.02	0.34903	.	0.950455	0.08804	N	0.891310	T	0.13628	0.0330	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.36866	-0.9730	10	0.13470	T	0.59	-0.1383	4.0542	0.09810	0.0:0.5617:0.1926:0.2457	.	132	Q96I13	ABHD8_HUMAN	T	132;78	ENSP00000247706:A132T	ENSP00000247706:A132T	A	-	1	0	ABHD8	17273032	0.013000	0.17824	0.000000	0.03702	0.022000	0.10575	2.586000	0.46119	0.439000	0.26476	0.561000	0.74099	GCC		0.726	ABHD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462937.1	NM_024527		13	19	0	0	0	1	0	13	19					T	17412032	C	T	17412032	3	4	132	1	0	0	0	0	1	0	0	0	87	739	26	3	941	3	ABHD8	19	17412032	Missense_Mutation	SNP	C	TCGA-EJ-A7NM-01A-21D-A33T-08	4720069	17412032	41716951	58	6765											
PSG7	5676	broad.mit.edu	37	chr19	43433714	43433714	+	RNA	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtagagggtcctgttggtttCagacagctgcaagctgtgag	8	11	15	7	0	1	3	1	1	0	2	2	3	2	3	1	2	3	6	1	2	2	3			TCGA-EJ-A7NM-01A-21D-A33T-08	TCGA-EJ-A7NM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da5750e6-fb1c-4bd9-9fc7-fa93504b0690	0892efc4-b6f5-47e3-befe-b685ebb7d359	g.chr19:43433714C>G	ENST00000406070.2	-	0	685				PSG7_ENST00000446844.3_RNA	NM_002783.2	NP_002774.2	Q13046	PSG7_HUMAN	pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene)						female pregnancy (GO:0007565)	extracellular region (GO:0005576)							Prostate(69;0.00682)				CTGTTGGTTTCAGACAGCTGC	0.507																																						ENST00000406070.2																			0													pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene)							297	299	298					19																	43433714		2201	4300	6501			5676				female pregnancy	extracellular region		g.chr19:43433714C>G			19q13.2	2013-01-29	2010-02-26		ENSG00000221878	ENSG00000221878		"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	9524	protein-coding gene	gene with protein product		176396	"pregnancy specific beta-1-glycoprotein 7"				Standard	NM_002783		Approved		uc010xwl.2	Q13046	OTTHUMG00000151125		19.37:g.43433714C>G						PSG7_ENST00000446844.3_RNA		NM_002783.2	NP_002774.2	Q13046	PSG7_HUMAN			0	685	-		Prostate(69;0.00682)						Q15232	RNA	SNP	ENST00000406070.2	37																																																																																						0.507	PSG7-001	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000321431.2	NM_001206650		104	253	0	0	0	1	0	104	253					G	43433714	C	G	43433714	1	3	132	0	1	0	0	0	0	0	0	0	12660	835	29	5		5	PSG7	19	43433714	RNA	SNP	C	TCGA-EJ-A7NM-01A-21D-A33T-08	26021682	43433714	15695269	59	6766											
CCDC114	93233	broad.mit.edu	37	chr19	48801473	48801473	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcactgtcaggagctccacCagccgcttctcaatgaggct	8	9	10	14	1	2	1	2	1	1	0	4	2	3	2	3	2	3	4	3	2	1	1			TCGA-EJ-A7NM-01A-21D-A33T-08	TCGA-EJ-A7NM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da5750e6-fb1c-4bd9-9fc7-fa93504b0690	0892efc4-b6f5-47e3-befe-b685ebb7d359	g.chr19:48801473C>T	ENST00000315396.7	-	11	1936	c.1254G>A	c.(1252-1254)ctG>ctA	p.L418L		NM_144577.3	NP_653178.3	Q96M63	CC114_HUMAN	coiled-coil domain containing 114	418					outer dynein arm assembly (GO:0036158)	cilium (GO:0005929)|outer dynein arm (GO:0036157)				cervix(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|stomach(1)	24		all_epithelial(76;9.64e-05)|all_lung(116;0.000147)|Lung NSC(112;0.000251)|Prostate(7;0.0187)|all_neural(266;0.0228)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000162)|Epithelial(262;0.0134)|GBM - Glioblastoma multiforme(486;0.0143)		GGAGCTCCACCAGCCGCTTCT	0.647																																						ENST00000315396.7																			0				cervix(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|stomach(1)	24						c.(1252-1254)ctG>ctA		coiled-coil domain containing 114							58	58	58					19																	48801473		2203	4300	6503	SO:0001819	synonymous_variant	93233							g.chr19:48801473C>T	BC025752	CCDS12714.2	19q13.32	2013-02-22			ENSG00000105479	ENSG00000105479			26560	protein-coding gene	gene with protein product		615038				23261302, 23261303	Standard	NM_144577		Approved	FLJ32926, CILD20	uc002pir.2	Q96M63	OTTHUMG00000156161	ENST00000315396.7:c.1254G>A	19.37:g.48801473C>T							p.L418L	NM_144577.3	NP_653178.3	Q96M63	CC114_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000162)|Epithelial(262;0.0134)|GBM - Glioblastoma multiforme(486;0.0143)	11	1936	-		all_epithelial(76;9.64e-05)|all_lung(116;0.000147)|Lung NSC(112;0.000251)|Prostate(7;0.0187)|all_neural(266;0.0228)|Ovarian(192;0.113)	418					Q6ZRL4|Q96M06|Q9UFG8	Silent	SNP	ENST00000315396.7	37	c.1254G>A	CCDS12714.2																																																																																				0.647	CCDC114-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343207.1	NM_144577		9	29	0	0	0	1	0	9	29					T	48801473	C	T	48801473	2	4	132	1	0	0	0	0	0	0	0	1	2751	581	21	3		3	CCDC114	19	48801473	Silent	SNP	C	TCGA-EJ-A7NM-01A-21D-A33T-08	5367759	48801473	10327510	60	6767											
LRRN4	164312	broad.mit.edu	37	chr20	6031443	6031443	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acttctggaacagaaggaccTgtagatgtggagtatcttga	12	11	12	6	0	2	3	0	1	2	2	2	6	2	6	1	3	1	2	1	3	4	4			TCGA-EJ-A7NM-01A-21D-A33T-08	TCGA-EJ-A7NM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da5750e6-fb1c-4bd9-9fc7-fa93504b0690	0892efc4-b6f5-47e3-befe-b685ebb7d359	g.chr20:6031443T>C	ENST00000378858.4	-	3	1066	c.842A>G	c.(841-843)cAg>cGg	p.Q281R		NM_152611.4	NP_689824.2	Q8WUT4	LRRN4_HUMAN	leucine rich repeat neuronal 4	281					long-term memory (GO:0007616)|visual learning (GO:0008542)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)				breast(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	27						CAGAAGGACCTGTAGATGTGG	0.453																																						ENST00000378858.4																			0				breast(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	27						c.(841-843)cAg>cGg		leucine rich repeat neuronal 4							167	162	164					20																	6031443		2203	4300	6503	SO:0001583	missense	164312					integral to membrane		g.chr20:6031443T>C	AL118505	CCDS13097.1	20p12.3	2013-02-11	2008-05-20	2008-05-20	ENSG00000125872	ENSG00000125872		"Fibronectin type III domain containing"	16208	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 75"	C20orf75		15870286	Standard	NM_152611		Approved	dJ1056H1.1, NLRR4	uc002wmo.3	Q8WUT4	OTTHUMG00000031825	ENST00000378858.4:c.842A>G	20.37:g.6031443T>C	ENSP00000368135:p.Gln281Arg						p.Q281R	NM_152611.4	NP_689824.2	Q8WUT4	LRRN4_HUMAN			3	1066	-			281					A8K258|Q5JWV6|Q9H419	Missense_Mutation	SNP	ENST00000378858.4	37	c.842A>G	CCDS13097.1	.	.	.	.	.	.	.	.	.	.	T	5.525	0.281824	0.10458	.	.	ENSG00000125872	ENST00000378858	T	0.54479	0.57	5.68	4.58	0.56647	.	0.436138	0.20495	N	0.091212	T	0.35098	0.0920	N	0.25890	0.77	0.09310	N	1	B;B	0.18461	0.028;0.001	B;B	0.17433	0.018;0.006	T	0.18272	-1.0342	10	0.28530	T	0.3	-15.2896	5.7112	0.17935	0.0:0.1576:0.1448:0.6976	.	281;281	Q6ZMD1;Q8WUT4	.;LRRN4_HUMAN	R	281	ENSP00000368135:Q281R	ENSP00000368135:Q281R	Q	-	2	0	LRRN4	5979443	0.032000	0.19561	0.028000	0.17463	0.387000	0.30353	0.596000	0.24044	0.993000	0.38866	0.402000	0.26972	CAG		0.453	LRRN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077907.2	NM_152611		34	55	0	0	0	1	0	34	55					C	6031443	T	C	6031443	3	2	132	1	0	0	0	0	1	0	0	0	9037	1580	55	4	1392	4	LRRN4	20	6031443	Missense_Mutation	SNP	T	TCGA-EJ-A7NM-01A-21D-A33T-08		6031443	56994077	61	6768											
KRTAP13-1	140258	broad.mit.edu	37	chr21	31768649	31768649	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgccagacctcctgctaccGtcccagaacctccttgctct	6	10	6	19	1	1	2	0	0	1	2	4	2	4	2	7	0	5	2	7	0	2	2			TCGA-EJ-A7NM-01A-21D-A33T-08	TCGA-EJ-A7NM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da5750e6-fb1c-4bd9-9fc7-fa93504b0690	0892efc4-b6f5-47e3-befe-b685ebb7d359	g.chr21:31768649G>A	ENST00000355459.2	+	1	258	c.245G>A	c.(244-246)cGt>cAt	p.R82H		NM_181599.2	NP_853630.2	Q8IUC0	KR131_HUMAN	keratin associated protein 13-1	82	5 X 10 AA approximate repeats.					intermediate filament (GO:0005882)				endometrium(1)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TCCTGCTACCGTCCCAGAACC	0.607																																						ENST00000355459.2																			0				endometrium(1)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						c.(244-246)cGt>cAt		keratin associated protein 13-1							66	66	66					21																	31768649		2203	4300	6503	SO:0001583	missense	140258					intermediate filament		g.chr21:31768649G>A	AJ457066	CCDS13590.2	21q22.11	2013-06-20			ENSG00000198390	ENSG00000198390		"Keratin associated proteins"	18924	protein-coding gene	gene with protein product		608718				12359730	Standard	NM_181599		Approved	KAP13.1	uc002yoa.3	Q8IUC0	OTTHUMG00000057800	ENST00000355459.2:c.245G>A	21.37:g.31768649G>A	ENSP00000347635:p.Arg82His						p.R82H	NM_181599.2	NP_853630.2	Q8IUC0	KR131_HUMAN			1	258	+			82			5 X 10 AA approximate repeats.		Q14D20|Q3LI79	Missense_Mutation	SNP	ENST00000355459.2	37	c.245G>A	CCDS13590.2	.	.	.	.	.	.	.	.	.	.	G	6.433	0.448056	0.12223	.	.	ENSG00000198390	ENST00000355459	T	0.03496	3.91	4.51	-4.5	0.03493	.	0.161204	0.28871	N	0.013862	T	0.01976	0.0062	L	0.35487	1.065	0.09310	N	1	B	0.23185	0.081	B	0.22601	0.04	T	0.42498	-0.9448	10	0.22706	T	0.39	.	0.9109	0.01295	0.4047:0.1114:0.2077:0.2762	.	82	Q8IUC0	KR131_HUMAN	H	82	ENSP00000347635:R82H	ENSP00000347635:R82H	R	+	2	0	KRTAP13-1	30690520	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.215000	0.17562	-0.971000	0.03564	-0.259000	0.10710	CGT		0.607	KRTAP13-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128252.3			3	54	0	0	0	1	0	3	54					A	31768649	G	A	31768649	3	1	132	1	0	0	0	0	1	0	0	0	8522	1145	40	1	247	1	KRTAP13-1	21	31768649	Missense_Mutation	SNP	G	TCGA-EJ-A7NM-01A-21D-A33T-08		31768649	16361246	62	6769											
C21orf45	54069	broad.mit.edu	37	chr21	33651206	33651206	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ttctgcaacagctggtggcgGctcgagtcttcggagagtct	6	11	14	10	3	3	1	0	0	3	1	5	3	3	1	0	4	3	3	0	4	1	2			TCGA-EJ-A7NM-01A-21D-A33T-08	TCGA-EJ-A7NM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da5750e6-fb1c-4bd9-9fc7-fa93504b0690	0892efc4-b6f5-47e3-befe-b685ebb7d359	g.chr21:33651206G>C	ENST00000290130.3	-	1	174	c.120C>G	c.(118-120)agC>agG	p.S40R	MIS18A-AS1_ENST00000453549.1_RNA	NM_018944.2	NP_061817.1	Q9NYP9	MS18A_HUMAN	MIS18 kinetochore protein A	40					CENP-A containing nucleosome assembly (GO:0034080)|chromosome segregation (GO:0007059)|mitotic nuclear division (GO:0007067)|nucleosome assembly (GO:0006334)|regulation of DNA methylation (GO:0044030)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(2)	7						GCTGGTGGCGGCTCGAGTCTT	0.642																																						ENST00000290130.3																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(2)	7						c.(118-120)agC>agG		MIS18 kinetochore protein A							25	25	25					21																	33651206		2203	4299	6502	SO:0001583	missense	54069				cell division|CenH3-containing nucleosome assembly at centromere|mitosis	chromosome, centromeric region|nucleoplasm		g.chr21:33651206G>C	AF231921	CCDS13611.1	21q22.11	2013-10-21	2013-10-21	2011-02-23	ENSG00000159055	ENSG00000159055			1286	protein-coding gene	gene with protein product			"chromosome 21 open reading frame 46", "chromosome 21 open reading frame 45", "MIS18 kinetochore protein homolog A (S. pombe)"	C21orf46, C21orf45		17199038	Standard	NM_018944		Approved	B28, FASP1, hMis18alpha	uc002ypi.3	Q9NYP9	OTTHUMG00000085308	ENST00000290130.3:c.120C>G	21.37:g.33651206G>C	ENSP00000290130:p.Ser40Arg					MIS18A-AS1_ENST00000453549.1_RNA	p.S40R	NM_018944.2	NP_061817.1	Q9NYP9	MS18A_HUMAN			1	174	-			40					B2R562|Q542Z0	Missense_Mutation	SNP	ENST00000290130.3	37	c.120C>G	CCDS13611.1	.	.	.	.	.	.	.	.	.	.	G	20.1	3.931530	0.73442	.	.	ENSG00000159055	ENST00000290130	.	.	.	4.81	2.8	0.32819	.	0.900608	0.09620	N	0.777726	T	0.43919	0.1269	L	0.57536	1.79	0.24976	N	0.991635	B	0.11235	0.004	B	0.09377	0.004	T	0.42582	-0.9443	9	0.87932	D	0	-0.3083	7.8731	0.29578	0.0:0.3314:0.4977:0.1708	.	40	Q9NYP9	MS18A_HUMAN	R	40	.	ENSP00000290130:S40R	S	-	3	2	MIS18A	32573077	0.202000	0.23423	0.963000	0.40424	0.967000	0.64934	0.503000	0.22610	1.342000	0.45619	0.650000	0.86243	AGC		0.642	MIS18A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000193090.1	NM_018944		10	15	0	0	0	1	0	10	15					C	33651206	G	C	33651206	3	2	132	1	0	0	0	0	1	0	0	0	2126	1194	42	5	601	5	C21orf45	21	33651206	Missense_Mutation	SNP	G	TCGA-EJ-A7NM-01A-21D-A33T-08	1882557	33651206	14478689	63	6770											
ITGB2	3689	broad.mit.edu	37	chr21	46308729	46308729	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctgcccttcacggggttgttCgacagctgcaggcccggaca	6	8	13	14	3	1	0	1	0	0	0	2	2	1	1	2	4	3	4	2	4	0	3	rs545524615		TCGA-EJ-A7NM-01A-21D-A33T-08	TCGA-EJ-A7NM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da5750e6-fb1c-4bd9-9fc7-fa93504b0690	0892efc4-b6f5-47e3-befe-b685ebb7d359	g.chr21:46308729C>T	ENST00000397850.2	-	15	2411	c.1959G>A	c.(1957-1959)tcG>tcA	p.S653S	ITGB2_ENST00000397854.3_Silent_p.S596S|ITGB2_ENST00000355153.4_Silent_p.S653S|ITGB2_ENST00000397852.1_Silent_p.S653S|ITGB2_ENST00000397857.1_Silent_p.S653S|ITGB2_ENST00000302347.5_Silent_p.S653S			P05107	ITB2_HUMAN	integrin, beta 2 (complement component 3 receptor 3 and 4 subunit)	653					apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|cell-matrix adhesion (GO:0007160)|endodermal cell differentiation (GO:0035987)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|neutrophil chemotaxis (GO:0030593)|receptor clustering (GO:0043113)|regulation of cell shape (GO:0008360)|regulation of immune response (GO:0050776)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integrin alphaL-beta2 complex (GO:0034687)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|vesicle (GO:0031982)	cell adhesion molecule binding (GO:0050839)|glycoprotein binding (GO:0001948)|ICAM-3 receptor activity (GO:0030369)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)			breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(4)|skin(3)	35				Colorectal(79;0.0669)	Simvastatin(DB00641)	CGGGGTTGTTCGACAGCTGCA	0.657																																						ENST00000397850.2																			0				breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(4)|skin(3)	35						c.(1957-1959)tcG>tcA		integrin, beta 2 (complement component 3 receptor 3 and 4 subunit)	Simvastatin(DB00641)						72	65	67					21																	46308729		2203	4300	6503	SO:0001819	synonymous_variant	3689				apoptosis|blood coagulation|cell-cell signaling|cell-matrix adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|multicellular organismal development|neutrophil chemotaxis|regulation of cell shape|regulation of immune response|regulation of peptidyl-tyrosine phosphorylation	integrin complex	glycoprotein binding|protein kinase binding|receptor activity	g.chr21:46308729C>T	AK222505	CCDS13716.1	21q22.3	2014-09-17	2006-03-02		ENSG00000160255	ENSG00000160255		"CD molecules", "Complement system", "Integrins"	6155	protein-coding gene	gene with protein product		600065	"integrin, beta 2 (antigen CD18 (p95), lymphocyte function-associated antigen 1; macrophage antigen 1 (mac-1) beta subunit)"	CD18, MFI7			Standard	NM_000211		Approved	LFA-1, MAC-1	uc002zgf.3	P05107	OTTHUMG00000090257	ENST00000397850.2:c.1959G>A	21.37:g.46308729C>T						ITGB2_ENST00000355153.4_Silent_p.S653S|ITGB2_ENST00000302347.5_Silent_p.S653S|ITGB2_ENST00000397852.1_Silent_p.S653S|ITGB2_ENST00000397854.3_Silent_p.S596S|ITGB2_ENST00000397857.1_Silent_p.S653S	p.S653S			P05107	ITB2_HUMAN		Colorectal(79;0.0669)	15	2411	-			653					B3KTS8|D3DSM1|Q16418|Q53HS5|Q9UD72	Silent	SNP	ENST00000397850.2	37	c.1959G>A	CCDS13716.1																																																																																				0.657	ITGB2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206566.2	NM_000211		6	37	0	0	0	1	0	6	37					T	46308729	C	T	46308729	2	4	132	1	0	0	0	0	0	0	0	1	7894	871	31	2		2	ITGB2	21	46308729	Silent	SNP	C	TCGA-EJ-A7NM-01A-21D-A33T-08	12657523	46308729	1821166	64	6771											
TRMT2A	27037	broad.mit.edu	37	chr22	20104421	20104421	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tctacctcgttgtcgaggttCtcactcatcgcccaggcggt	5	12	10	14	4	3	0	2	0	2	0	7	1	3	0	2	3	1	2	2	3	1	3			TCGA-EJ-A7NM-01A-21D-A33T-08	TCGA-EJ-A7NM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da5750e6-fb1c-4bd9-9fc7-fa93504b0690	0892efc4-b6f5-47e3-befe-b685ebb7d359	g.chr22:20104421C>T	ENST00000252136.7	-	1	397	c.9G>A	c.(7-9)gaG>gaA	p.E3E	RANBP1_ENST00000402752.1_5'Flank|TRMT2A_ENST00000403707.3_Silent_p.E3E|TRMT2A_ENST00000492988.1_5'Flank|TRMT2A_ENST00000439169.2_Silent_p.E3E|RANBP1_ENST00000430524.1_Intron|TRMT2A_ENST00000404751.3_Silent_p.E3E|RANBP1_ENST00000331821.3_5'Flank	NM_001257994.1|NM_022727.5|NM_182984.4	NP_001244923.1|NP_073564.3|NP_892029.2	Q8IZ69	TRM2A_HUMAN	tRNA methyltransferase 2 homolog A (S. cerevisiae)	3					RNA processing (GO:0006396)		nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA methyltransferase activity (GO:0008173)			breast(2)|endometrium(2)|lung(5)	9						TGTCGAGGTTCTCACTCATCG	0.657																																						ENST00000252136.7																			0				breast(2)|endometrium(2)|lung(5)	9						c.(7-9)gaG>gaA		tRNA methyltransferase 2 homolog A (S. cerevisiae)							51	32	38					22																	20104421		2192	4294	6486	SO:0001819	synonymous_variant	27037				RNA processing		nucleotide binding|RNA binding|RNA methyltransferase activity	g.chr22:20104421C>T	BC017184	CCDS13774.1, CCDS58793.1	22q11.21	2014-02-12	2012-06-12		ENSG00000099899	ENSG00000099899			24974	protein-coding gene	gene with protein product	"HpaII tiny fragments locus 9C"	611151				9417108, 18075473	Standard	NM_022727		Approved	HTF9C	uc002zrl.2	Q8IZ69	OTTHUMG00000150454	ENST00000252136.7:c.9G>A	22.37:g.20104421C>T						TRMT2A_ENST00000403707.3_Silent_p.E3E|RANBP1_ENST00000430524.1_Intron|TRMT2A_ENST00000439169.2_Silent_p.E3E|TRMT2A_ENST00000404751.3_Silent_p.E3E	p.E3E	NM_001257994.1|NM_022727.5|NM_182984.4	NP_001244923.1|NP_073564.3|NP_892029.2	Q8IZ69	TRM2A_HUMAN			1	397	-			3					D3DX25|Q32P57|Q96ME6|Q9H732	Silent	SNP	ENST00000252136.7	37	c.9G>A	CCDS13774.1																																																																																				0.657	TRMT2A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318168.3	NM_022727		3	3	0	0	0	1	0	3	3					T	20104421	C	T	20104421	2	4	132	1	0	0	0	0	0	0	0	1	16562	912	32	3		3	TRMT2A	22	20104421	Silent	SNP	C	TCGA-EJ-A7NM-01A-21D-A33T-08		20104421	31200145	65	6772											
MMP11	4320	broad.mit.edu	37	chr22	24124530	24124530	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggtctggggtcccgagaagaAcaagatctacttcttccgag	10	9	12	10	2	3	3	0	0	3	3	5	5	5	3	2	3	2	0	2	3	4	3			TCGA-EJ-A7NM-01A-21D-A33T-08	TCGA-EJ-A7NM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da5750e6-fb1c-4bd9-9fc7-fa93504b0690	0892efc4-b6f5-47e3-befe-b685ebb7d359	g.chr22:24124530A>G	ENST00000215743.3	+	7	1245	c.1193A>G	c.(1192-1194)aAc>aGc	p.N398S	AP000349.1_ENST00000598975.1_Silent_p.C228C	NM_005940.3	NP_005931.2	P24347	MMP11_HUMAN	matrix metallopeptidase 11 (stromelysin 3)	398					basement membrane organization (GO:0071711)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|multicellular organismal development (GO:0007275)|negative regulation of fat cell differentiation (GO:0045599)|proteolysis (GO:0006508)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	27		Medulloblastoma(6;9.86e-08)|all_neural(6;0.000318)			Marimastat(DB00786)	CCCGAGAAGAACAAGATCTAC	0.647																																						ENST00000215743.3																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	27						c.(1192-1194)aAc>aGc		matrix metallopeptidase 11 (stromelysin 3)							74	67	69					22																	24124530		2203	4300	6503	SO:0001583	missense	4320				collagen catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding	g.chr22:24124530A>G		CCDS13816.1	22q11.23	2008-06-11	2005-08-08		ENSG00000099953	ENSG00000099953			7157	protein-coding gene	gene with protein product		185261	"matrix metalloproteinase 11 (stromelysin 3)"	STMY3		1639418, 7657606, 12006591	Standard	NM_005940		Approved		uc002zxx.3	P24347	OTTHUMG00000150742	ENST00000215743.3:c.1193A>G	22.37:g.24124530A>G	ENSP00000215743:p.Asn398Ser					AP000349.1_ENST00000598975.1_Silent_p.C228C	p.N398S	NM_005940.3	NP_005931.2	P24347	MMP11_HUMAN			7	1245	+		Medulloblastoma(6;9.86e-08)|all_neural(6;0.000318)	398			Hemopexin-like 3.		Q5FX24|Q6PEZ6|Q9UC26	Missense_Mutation	SNP	ENST00000215743.3	37	c.1193A>G	CCDS13816.1	.	.	.	.	.	.	.	.	.	.	A	16.54	3.152217	0.57259	.	.	ENSG00000099953	ENST00000215743	T	0.02916	4.11	4.93	4.93	0.64822	Hemopexin/matrixin (2);	0.366639	0.33938	N	0.004410	T	0.05410	0.0143	M	0.62088	1.915	0.42653	D	0.993458	B	0.22746	0.074	B	0.21917	0.037	T	0.18335	-1.0340	10	0.52906	T	0.07	.	14.2638	0.66102	1.0:0.0:0.0:0.0	.	398	P24347	MMP11_HUMAN	S	398	ENSP00000215743:N398S	ENSP00000215743:N398S	N	+	2	0	MMP11	22454530	1.000000	0.71417	1.000000	0.80357	0.670000	0.39368	3.711000	0.54868	2.228000	0.72767	0.477000	0.44152	AAC		0.647	MMP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319891.2	NM_005940		10	42	0	0	0	1	0	10	42					G	24124530	A	G	24124530	3	3	132	1	0	0	0	0	1	0	0	0	9650	43	2	4	1219	4	MMP11	22	24124530	Missense_Mutation	SNP	A	TCGA-EJ-A7NM-01A-21D-A33T-08	4020109	24124530	27180036	66	6773											
GGT5	2687	broad.mit.edu	37	chr22	24621251	24621251	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgagctccccgccagcccCgccaatcactagcttcgacc	8	6	8	19	3	1	1	1	1	0	0	3	3	2	1	7	0	3	2	7	0	2	2			TCGA-EJ-A7NM-01A-21D-A33T-08	TCGA-EJ-A7NM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da5750e6-fb1c-4bd9-9fc7-fa93504b0690	0892efc4-b6f5-47e3-befe-b685ebb7d359	g.chr22:24621251C>T	ENST00000327365.4	-	10	1881	c.1465G>A	c.(1465-1467)Ggg>Agg	p.G489R	GGT5_ENST00000418439.2_Missense_Mutation_p.G413R|GGT5_ENST00000398292.3_Missense_Mutation_p.G490R|GGT5_ENST00000263112.7_Missense_Mutation_p.G457R	NM_001099781.1|NM_004121.2	NP_001093251.1|NP_004112.2	P36269	GGT5_HUMAN	gamma-glutamyltransferase 5	489					arachidonic acid metabolic process (GO:0019369)|cellular amino acid metabolic process (GO:0006520)|glutathione biosynthetic process (GO:0006750)|glutathione metabolic process (GO:0006749)|inflammatory response (GO:0006954)|leukotriene biosynthetic process (GO:0019370)|leukotriene metabolic process (GO:0006691)|small molecule metabolic process (GO:0044281)	anchored component of external side of plasma membrane (GO:0031362)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	gamma-glutamyltransferase activity (GO:0003840)|glutathione hydrolase activity (GO:0036374)	p.G489R(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(3)|skin(3)	28						CCGCCAGCCCCGCCAATCACT	0.622																																						ENST00000327365.4																			1	Substitution - Missense(1)	p.G489R(1)	prostate(1)	breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(3)|skin(3)	28						c.(1465-1467)Ggg>Agg		gamma-glutamyltransferase 5							53	58	56					22																	24621251		2203	4300	6503	SO:0001583	missense	2687				glutathione biosynthetic process|hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process	integral to membrane|plasma membrane	acyltransferase activity|gamma-glutamyltransferase activity	g.chr22:24621251C>T	M64099	CCDS13825.1, CCDS42989.1, CCDS42990.1	22q11.23	2008-03-25	2008-03-10	2008-03-10	ENSG00000099998	ENSG00000099998		"Gamma-glutamyltransferases"	4260	protein-coding gene	gene with protein product		137168	"gamma-glutamyltransferase-like activity 1"	GGTLA1		1676842, 8095916, 18357469	Standard	NM_004121		Approved	GGT-REL	uc002zzp.4	P36269	OTTHUMG00000150796	ENST00000327365.4:c.1465G>A	22.37:g.24621251C>T	ENSP00000330080:p.Gly489Arg					GGT5_ENST00000418439.2_Missense_Mutation_p.G413R|GGT5_ENST00000263112.7_Missense_Mutation_p.G457R|GGT5_ENST00000398292.3_Missense_Mutation_p.G490R	p.G489R	NM_001099781.1|NM_004121.2	NP_001093251.1|NP_004112.2	P36269	GGT5_HUMAN			10	1881	-			489					Q53XM9|Q6GMP0|Q96FC1|Q9UFM5	Missense_Mutation	SNP	ENST00000327365.4	37	c.1465G>A	CCDS13825.1	.	.	.	.	.	.	.	.	.	.	C	24.2	4.500354	0.85176	.	.	ENSG00000099998	ENST00000327365;ENST00000263112;ENST00000438024;ENST00000398292;ENST00000418439	T;T;T;T	0.07021	3.23;3.23;3.23;3.23	4.6	4.6	0.57074	.	0.227922	0.44097	D	0.000481	T	0.34745	0.0908	M	0.90814	3.15	0.51012	D	0.999905	D;D;D;D;D	0.89917	1.0;1.0;1.0;0.999;1.0	D;D;D;D;D	0.97110	1.0;0.996;0.997;0.981;0.997	T	0.35574	-0.9783	10	0.87932	D	0	-32.5583	13.3198	0.60426	0.0:1.0:0.0:0.0	.	413;457;489;490;489	E7EUG3;P36269-2;Q53XM9;Q6GMP0;P36269	.;.;.;.;GGT5_HUMAN	R	489;457;404;490;413	ENSP00000330080:G489R;ENSP00000263112:G457R;ENSP00000381340:G490R;ENSP00000392146:G413R	ENSP00000263112:G457R	G	-	1	0	GGT5	22951251	0.994000	0.37717	0.879000	0.34478	0.934000	0.57294	3.622000	0.54217	2.278000	0.76064	0.555000	0.69702	GGG		0.622	GGT5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000320119.1	NM_004121		17	44	0	0	0	1	0	17	44					T	24621251	C	T	24621251	3	4	132	1	0	0	0	0	1	0	0	0	6362	652	23	2	307	2	GGT5	22	24621251	Missense_Mutation	SNP	C	TCGA-EJ-A7NM-01A-21D-A33T-08	496721	24621251	26683315	67	6774											
PRDM2	7799	broad.mit.edu	37	chr1	14108213	14108213	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tccatttcagtaccatcaccGtaaccccatggggattggtg	9	11	9	12	1	2	0	2	0	0	0	3	1	3	1	5	3	2	2	5	3	2	4			TCGA-EJ-A7NN-01A-11D-A33T-08	TCGA-EJ-A7NN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860c80f6-64b2-4089-87ee-8d64a6eba17b	c9b96788-9d99-4be5-a458-9e3d2c8755ea	g.chr1:14108213G>A	ENST00000235372.7	+	8	4779	c.3923G>A	c.(3922-3924)cGt>cAt	p.R1308H	PRDM2_ENST00000343137.4_Missense_Mutation_p.R1107H|PRDM2_ENST00000503842.1_Intron|PRDM2_ENST00000413440.1_Missense_Mutation_p.R1107H|PRDM2_ENST00000311066.5_Missense_Mutation_p.R1308H|PRDM2_ENST00000376048.5_Intron|PRDM2_ENST00000505823.1_Intron	NM_012231.4	NP_036363.2	Q13029	PRDM2_HUMAN	PR domain containing 2, with ZNF domain	1308					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(16)|lung(20)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	55	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145)		TACCATCACCGTAACCCCATG	0.443																																						ENST00000235372.7																			0				endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(16)|lung(20)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	55						c.(3922-3924)cGt>cAt		PR domain containing 2, with ZNF domain							140	139	139					1																	14108213		2203	4300	6503	SO:0001583	missense	7799					Golgi apparatus|nucleus	DNA binding|histone-lysine N-methyltransferase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr1:14108213G>A	U17838	CCDS150.1, CCDS151.1, CCDS30603.1, CCDS44061.1	1p36	2011-07-01			ENSG00000116731	ENSG00000116731		"Chromatin-modifying enzymes / K-methyltransferases"	9347	protein-coding gene	gene with protein product	"retinoblastoma protein-binding zinc finger protein", "retinoblastoma protein-interacting zinc finger protein", "MTE-binding protein", "zinc-finger DNA-binding protein", "GATA-3 binding protein G3B"	601196				7538672	Standard	NM_012231		Approved	RIZ, RIZ1, RIZ2, KMT8, MTB-ZF, HUMHOXY1	uc001avi.3	Q13029	OTTHUMG00000007917	ENST00000235372.7:c.3923G>A	1.37:g.14108213G>A	ENSP00000235372:p.Arg1308His					PRDM2_ENST00000503842.1_Intron|PRDM2_ENST00000413440.1_Missense_Mutation_p.R1107H|PRDM2_ENST00000311066.5_Missense_Mutation_p.R1308H|PRDM2_ENST00000343137.4_Missense_Mutation_p.R1107H|PRDM2_ENST00000505823.1_Intron|PRDM2_ENST00000376048.5_Intron	p.R1308H	NM_012231.4	NP_036363.2	Q13029	PRDM2_HUMAN	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145)	8	4779	+	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	1308					B1AJZ4|B5MC68|Q13149|Q14550|Q5THJ1|Q5VUL9	Missense_Mutation	SNP	ENST00000235372.7	37	c.3923G>A	CCDS150.1	.	.	.	.	.	.	.	.	.	.	G	17.90	3.502016	0.64298	.	.	ENSG00000116731	ENST00000235372;ENST00000311066;ENST00000400800;ENST00000413440;ENST00000343137	T;T;T;T	0.02050	4.59;4.48;4.48;4.48	6.17	5.27	0.74061	.	0.000000	0.85682	D	0.000000	T	0.06234	0.0161	L	0.29908	0.895	0.47037	D	0.999293	D;B;B	0.89917	1.0;0.167;0.257	D;B;B	0.74023	0.982;0.031;0.042	T	0.38672	-0.9650	10	0.87932	D	0	.	10.4416	0.44469	0.1477:0.0:0.8523:0.0	.	1166;1308;1308	Q5THJ0;Q13029;Q13029-2	.;PRDM2_HUMAN;.	H	1308;1308;1308;1107;1107	ENSP00000235372:R1308H;ENSP00000312352:R1308H;ENSP00000411103:R1107H;ENSP00000341621:R1107H	ENSP00000235372:R1308H	R	+	2	0	PRDM2	13980800	1.000000	0.71417	0.999000	0.59377	0.823000	0.46562	6.781000	0.75068	1.635000	0.50512	0.655000	0.94253	CGT		0.443	PRDM2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000021792.2	NM_012231		4	164	0	0	0	1	0	4	164					A	14108213	G	A	14108213	3	1	133	1	0	0	0	0	1	0	0	0	12458	1145	40	1	3949	1	PRDM2	1	14108213	Missense_Mutation	SNP	G	TCGA-EJ-A7NN-01A-11D-A33T-08		14108213	235142408	1	6775											
EPS15	2060	broad.mit.edu	37	chr1	51868169	51868169	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctgcaactggacctgtcagcGaacttgagtctacattaaat	12	11	8	10	1	2	1	1	1	1	0	2	3	2	2	1	1	5	1	1	1	5	3	rs368190737		TCGA-EJ-A7NN-01A-11D-A33T-08	TCGA-EJ-A7NN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860c80f6-64b2-4089-87ee-8d64a6eba17b	c9b96788-9d99-4be5-a458-9e3d2c8755ea	g.chr1:51868169G>A	ENST00000371733.3	-	18	1916	c.1820C>T	c.(1819-1821)tCg>tTg	p.S607L	EPS15_ENST00000493793.1_5'Flank|EPS15_ENST00000396122.4_Missense_Mutation_p.S284L|EPS15_ENST00000371730.2_Missense_Mutation_p.S473L	NM_001981.2	NP_001972.1	P42566	EPS15_HUMAN	epidermal growth factor receptor pathway substrate 15	607	15 X 3 AA repeats of D-P-F.				cell proliferation (GO:0008283)|clathrin coat assembly (GO:0048268)|endocytic recycling (GO:0032456)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|Golgi to endosome transport (GO:0006895)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|protein transport (GO:0015031)|vesicle organization (GO:0016050)	AP-2 adaptor complex (GO:0030122)|ciliary membrane (GO:0060170)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|polyubiquitin binding (GO:0031593)	p.0?(2)		endometrium(3)|kidney(5)|large_intestine(8)|lung(13)|prostate(2)|skin(1)|stomach(1)|urinary_tract(2)	35						ACCTGTCAGCGAACTTGAGTC	0.264			T	MLL	ALL																																	ENST00000371733.3				Dom	yes		1	1p32	2060	T	epidermal growth factor receptor pathway substrate 15 (AF1p)			L	MLL		ALL		2	Whole gene deletion(2)	p.0?(2)	thyroid(1)|central_nervous_system(1)	endometrium(3)|kidney(5)|large_intestine(8)|lung(13)|prostate(2)|skin(1)|stomach(1)|urinary_tract(2)	35						c.(1819-1821)tCg>tTg		epidermal growth factor receptor pathway substrate 15		G	LEU/SER,LEU/SER	1,4405	2.1+/-5.4	0,1,2202	64	67	66		878,1820	6	1	1		66	0,8598		0,0,4299	no	missense,missense	EPS15	NM_001159969.1,NM_001981.2	145,145	0,1,6501	AA,AG,GG		0.0,0.0227,0.0077	benign,benign	293/583,607/897	51868169	1,13003	2203	4299	6502	SO:0001583	missense	2060				cell proliferation|clathrin coat assembly|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|protein transport	cytosol|early endosome membrane	calcium ion binding|SH3 domain binding	g.chr1:51868169G>A	BC054006	CCDS557.1	1p32	2013-01-10			ENSG00000085832	ENSG00000085832		"EF-hand domain containing"	3419	protein-coding gene	gene with protein product		600051				8183552	Standard	NM_001159969		Approved	AF-1P, MLLT5	uc001csq.1	P42566	OTTHUMG00000008192	ENST00000371733.3:c.1820C>T	1.37:g.51868169G>A	ENSP00000360798:p.Ser607Leu					EPS15_ENST00000396122.4_Missense_Mutation_p.S284L|EPS15_ENST00000371730.2_Missense_Mutation_p.S473L	p.S607L	NM_001981.2	NP_001972.1	P42566	EPS15_HUMAN			18	1916	-			607			15 X 3 AA repeats of D-P-F.		B2R8J7|D3DPJ2|Q5SRH4	Missense_Mutation	SNP	ENST00000371733.3	37	c.1820C>T	CCDS557.1	.	.	.	.	.	.	.	.	.	.	G	13.82	2.351884	0.41700	2.27E-4	0.0	ENSG00000085832	ENST00000371730;ENST00000371733;ENST00000396122	T;T;T	0.18810	2.19;2.19;2.19	5.96	5.96	0.96718	.	.	.	.	.	T	0.21022	0.0506	L	0.40543	1.245	0.38786	D	0.954878	P;B;D	0.53312	0.734;0.201;0.959	B;B;B	0.42771	0.101;0.021;0.397	T	0.01776	-1.1276	9	0.32370	T	0.25	.	15.9415	0.79758	0.0:0.0:0.8644:0.1356	.	473;607;293	B1AUU8;P42566;P42566-2	.;EPS15_HUMAN;.	L	473;607;284	ENSP00000360795:S473L;ENSP00000360798:S607L;ENSP00000379428:S284L	ENSP00000360795:S473L	S	-	2	0	EPS15	51640757	1.000000	0.71417	1.000000	0.80357	0.921000	0.55340	5.419000	0.66435	2.830000	0.97506	0.585000	0.79938	TCG		0.264	EPS15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022422.1	NM_001981		8	95	0	0	0	1	0	8	95					A	51868169	G	A	51868169	3	1	133	1	0	0	0	0	1	0	0	0	5192	1059	37	2	902	2	EPS15	1	51868169	Missense_Mutation	SNP	G	TCGA-EJ-A7NN-01A-11D-A33T-08	37759956	51868169	197382452	2	6776											
RPTN	126638	broad.mit.edu	37	chr1	152128186	152128186	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttgtctgtctgtctgaccAtagtgggaactctggccttg	5	14	11	11	0	4	1	0	1	4	0	4	2	4	2	3	2	1	0	3	2	2	3			TCGA-EJ-A7NN-01A-11D-A33T-08	TCGA-EJ-A7NN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860c80f6-64b2-4089-87ee-8d64a6eba17b	c9b96788-9d99-4be5-a458-9e3d2c8755ea	g.chr1:152128186A>G	ENST00000316073.3	-	3	1453	c.1389T>C	c.(1387-1389)taT>taC	p.Y463Y		NM_001122965.1	NP_001116437.1	Q6XPR3	RPTN_HUMAN	repetin	463	Gln-rich.					cornified envelope (GO:0001533)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						CTGTCTGACCATAGTGGGAAC	0.512																																						ENST00000316073.3																			0				breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						c.(1387-1389)taT>taC		repetin							788	697	725					1																	152128186		1568	3582	5150	SO:0001819	synonymous_variant	126638					proteinaceous extracellular matrix	calcium ion binding	g.chr1:152128186A>G	AK096436	CCDS41397.1	1q21.3	2013-01-10			ENSG00000215853	ENSG00000215853		"EF-hand domain containing"	26809	protein-coding gene	gene with protein product		613259				15854042	Standard	NM_001122965		Approved	FLJ39117	uc001ezs.1	Q6XPR3	OTTHUMG00000154095	ENST00000316073.3:c.1389T>C	1.37:g.152128186A>G							p.Y463Y	NM_001122965.1	NP_001116437.1	Q6XPR3	RPTN_HUMAN			3	1453	-			463			Gln-rich.		B7ZBZ3	Silent	SNP	ENST00000316073.3	37	c.1389T>C	CCDS41397.1																																																																																				0.512	RPTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333867.1	XM_371312		6	803	0	0	0	1	0	6	803					G	152128186	A	G	152128186	2	3	133	1	0	0	0	0	0	0	0	1	13664	224	8	4		4	RPTN	1	152128186	Silent	SNP	A	TCGA-EJ-A7NN-01A-11D-A33T-08	100260017	152128186	97122435	3	6777											
HMCN1	83872	broad.mit.edu	37	chr1	185834881	185834881	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttaatcataggtcgtattTgttctgactggagattgtga	9	18	10	4	1	2	3	1	2	1	1	3	4	2	3	0	2	0	2	0	2	3	7			TCGA-EJ-A7NN-01A-11D-A33T-08	TCGA-EJ-A7NN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860c80f6-64b2-4089-87ee-8d64a6eba17b	c9b96788-9d99-4be5-a458-9e3d2c8755ea	g.chr1:185834881T>C	ENST00000271588.4	+	4	736	c.507T>C	c.(505-507)ttT>ttC	p.F169F	HMCN1_ENST00000367492.2_Silent_p.F169F	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	169	VWFA.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						AGGTCGTATTTGTTCTGACTG	0.338																																						ENST00000271588.4																			0				NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						c.(505-507)ttT>ttC		hemicentin 1							72	75	74					1																	185834881		2203	4300	6503	SO:0001819	synonymous_variant	83872				response to stimulus|visual perception	basement membrane	calcium ion binding	g.chr1:185834881T>C	AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"Fibulins", "Immunoglobulin superfamily / I-set domain containing"	19194	protein-coding gene	gene with protein product	"fibulin 6"	608548	"age-related macular degeneration 1 (senile macular degeneration)"	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.507T>C	1.37:g.185834881T>C						HMCN1_ENST00000367492.2_Silent_p.F169F	p.F169F	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN			4	736	+			169			VWFA.		A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Silent	SNP	ENST00000271588.4	37	c.507T>C	CCDS30956.1																																																																																				0.338	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935		28	39	0	0	0	1	0	28	39					C	185834881	T	C	185834881	2	2	133	1	0	0	0	0	0	0	0	1	7220	1809	63	4		4	HMCN1	1	185834881	Silent	SNP	T	TCGA-EJ-A7NN-01A-11D-A33T-08	33706695	185834881	63415740	4	6778											
TPR	7175	broad.mit.edu	37	chr1	186307346	186307346	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccttcagactctgaattaagTtctggttgttagtcaaagat	11	15	8	7	0	4	3	2	1	2	2	4	3	4	3	1	1	0	3	1	1	4	5			TCGA-EJ-A7NN-01A-11D-A33T-08	TCGA-EJ-A7NN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860c80f6-64b2-4089-87ee-8d64a6eba17b	c9b96788-9d99-4be5-a458-9e3d2c8755ea	g.chr1:186307346T>C	ENST00000367478.4	-	31	4477	c.4181A>G	c.(4180-4182)aAc>aGc	p.N1394S		NM_003292.2	NP_003283.2	P12270	TPR_HUMAN	translocated promoter region, nuclear basket protein	1394					carbohydrate metabolic process (GO:0005975)|cellular response to heat (GO:0034605)|cellular response to interferon-alpha (GO:0035457)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|MAPK import into nucleus (GO:0000189)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope disassembly (GO:0007077)|mitotic spindle assembly checkpoint (GO:0007094)|mRNA export from nucleus in response to heat stress (GO:0031990)|negative regulation of RNA export from nucleus (GO:0046832)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of translational initiation (GO:0045947)|nuclear pore organization (GO:0006999)|positive regulation of heterochromatin assembly (GO:0031453)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090267)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of protein import into nucleus (GO:0042307)|protein import into nucleus (GO:0006606)|regulation of glucose transport (GO:0010827)|regulation of mitotic sister chromatid separation (GO:0010965)|regulation of spindle assembly involved in mitosis (GO:1901673)|response to epidermal growth factor (GO:0070849)|RNA export from nucleus (GO:0006405)|RNA import into nucleus (GO:0006404)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoplasmic dynein complex (GO:0005868)|extrinsic component of membrane (GO:0019898)|kinetochore (GO:0000776)|mitotic spindle (GO:0072686)|nuclear envelope (GO:0005635)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|dynein complex binding (GO:0070840)|heat shock protein binding (GO:0031072)|mitogen-activated protein kinase binding (GO:0051019)|mRNA binding (GO:0003729)|nucleocytoplasmic transporter activity (GO:0005487)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|tubulin binding (GO:0015631)			autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(9)|kidney(12)|large_intestine(23)|liver(1)|lung(45)|ovary(2)|pancreas(1)|prostate(6)|skin(3)|stomach(1)|urinary_tract(8)	123		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)		CTGAATTAAGTTCTGGTTGTT	0.299			T	NTRK1	papillary thyroid																																	ENST00000367478.3				Dom	yes		1	1q25	7175	T	translocated promoter region			E	NTRK1		papillary thyroid		0				autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(9)|kidney(12)|large_intestine(23)|liver(1)|lung(45)|ovary(2)|pancreas(1)|prostate(6)|skin(3)|stomach(1)|urinary_tract(8)	123						c.(4180-4182)aAc>aGc		translocated promoter region, nuclear basket protein							101	88	92					1																	186307346		1804	4069	5873	SO:0001583	missense	7175				carbohydrate metabolic process|glucose transport|mitotic cell cycle spindle assembly checkpoint|mRNA transport|protein import into nucleus|regulation of glucose transport|seryl-tRNA aminoacylation|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytoplasm|nuclear membrane|nuclear pore|nucleoplasm	ATP binding|protein binding|serine-tRNA ligase activity	g.chr1:186307346T>C	U69668	CCDS41446.1	1q25	2012-03-13	2012-03-13		ENSG00000047410	ENSG00000047410			12017	protein-coding gene	gene with protein product		189940	"translocated promoter region (to activated MET oncogene)"			1611909, 15229283	Standard	NM_003292		Approved		uc001grv.3	P12270	OTTHUMG00000035580	ENST00000367478.4:c.4181A>G	1.37:g.186307346T>C	ENSP00000356448:p.Asn1394Ser						p.N1394S	NM_003292.2	NP_003283.2	P12270	TPR_HUMAN		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)	31	4477	-		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)	1394					Q15655|Q5SWY0|Q99968	Missense_Mutation	SNP	ENST00000367478.4	37	c.4181A>G	CCDS41446.1	.	.	.	.	.	.	.	.	.	.	T	11.07	1.530697	0.27387	.	.	ENSG00000047410	ENST00000367478	T	0.35421	1.31	5.47	5.47	0.80525	.	0.137128	0.64402	D	0.000004	T	0.20210	0.0486	N	0.08118	0	0.32832	D	0.504166	B	0.21381	0.055	B	0.15052	0.012	T	0.15925	-1.0420	10	0.16896	T	0.51	.	15.5898	0.76517	0.0:0.0:0.0:1.0	.	1394	P12270	TPR_HUMAN	S	1394	ENSP00000356448:N1394S	ENSP00000356448:N1394S	N	-	2	0	TPR	184573969	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.494000	0.53273	2.078000	0.62432	0.528000	0.53228	AAC		0.299	TPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086353.2	NM_003292		17	27	0	0	0	1	0	17	27					C	186307346	T	C	186307346	3	2	133	1	0	0	0	0	1	0	0	0	16413	1725	60	4	2994	4	TPR	1	186307346	Missense_Mutation	SNP	T	TCGA-EJ-A7NN-01A-11D-A33T-08	472465	186307346	62943275	5	6779											
USH2A	7399	broad.mit.edu	37	chr1	216011338	216011338	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cacaaaattttgtaccttgaAgtgatgccacgaattgtggg	12	12	10	7	1	0	2	0	2	0	0	0	3	0	2	2	1	2	1	2	1	5	5			TCGA-EJ-A7NN-01A-11D-A33T-08	TCGA-EJ-A7NN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860c80f6-64b2-4089-87ee-8d64a6eba17b	c9b96788-9d99-4be5-a458-9e3d2c8755ea	g.chr1:216011338A>G	ENST00000307340.3	-	47	9752	c.9366T>C	c.(9364-9366)acT>acC	p.T3122T	USH2A_ENST00000366943.2_Silent_p.T3122T	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	3122	Fibronectin type-III 18. {ECO:0000255|PROSITE-ProRule:PRU00316}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TGTACCTTGAAGTGATGCCAC	0.383										HNSCC(13;0.011)																												ENST00000366943.2																			0				NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527						c.(9364-9366)acT>acC		Usher syndrome 2A (autosomal recessive, mild)							214	193	200					1																	216011338		2203	4300	6503	SO:0001819	synonymous_variant	7399				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	g.chr1:216011338A>G	AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"Fibronectin type III domain containing"	12601	protein-coding gene	gene with protein product	"usherin"	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.9366T>C	1.37:g.216011338A>G		HNSCC(13;0.011)				USH2A_ENST00000307340.3_Silent_p.T3122T	p.T3122T			O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	47	9752	-			3122			Fibronectin type-III 18.		Q5VVM9|Q6S362|Q9NS27	Silent	SNP	ENST00000307340.3	37	c.9366T>C	CCDS31025.1																																																																																				0.383	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		4	88	0	0	0	1	0	4	88					G	216011338	A	G	216011338	2	3	133	1	0	0	0	0	0	0	0	1	17033	59	3	4		4	USH2A	1	216011338	Silent	SNP	A	TCGA-EJ-A7NN-01A-11D-A33T-08	29703992	216011338	33239283	6	6780											
C2orf44	80304	broad.mit.edu	37	chr2	24262247	24262247	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gacctctccactgtgaagccGcaaatcagttaggacaactt	12	9	8	12	1	2	1	1	1	1	0	3	3	2	2	3	1	2	2	3	1	4	2			TCGA-EJ-A7NN-01A-11D-A33T-08	TCGA-EJ-A7NN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860c80f6-64b2-4089-87ee-8d64a6eba17b	c9b96788-9d99-4be5-a458-9e3d2c8755ea	g.chr2:24262247G>A	ENST00000295148.4	-	2	175	c.118C>T	c.(118-120)Cgg>Tgg	p.R40W	C2orf44_ENST00000406895.3_Missense_Mutation_p.R40W	NM_025203.2	NP_079479.1	Q9H6R7	CB044_HUMAN	chromosome 2 open reading frame 44	40									C2orf44/ALK(2)	breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	24	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTGTGAAGCCGCAAATCAGTT	0.507			T	ALK	NSCLC																																	ENST00000295148.4				Dom	yes		2	2p23.3	80304	T	chromosome 2 open reading frame 44			E	ALK		NSCLC	C2orf44/ALK(2)	0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	24						c.(118-120)Cgg>Tgg		chromosome 2 open reading frame 44							119	105	110					2																	24262247		2203	4300	6503	SO:0001583	missense	80304						protein binding	g.chr2:24262247G>A	AK025598	CCDS1705.1, CCDS46229.1	2p23.3	2012-07-30			ENSG00000163026	ENSG00000163026			26157	protein-coding gene	gene with protein product						22327622	Standard	NM_025203		Approved	FLJ21945	uc002rep.2	Q9H6R7	OTTHUMG00000125498	ENST00000295148.4:c.118C>T	2.37:g.24262247G>A	ENSP00000295148:p.Arg40Trp					C2orf44_ENST00000406895.3_Missense_Mutation_p.R40W	p.R40W	NM_025203.2	NP_079479.1	Q9H6R7	CB044_HUMAN			2	175	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		40					D6W532|Q8IYK0|Q9HBP5	Missense_Mutation	SNP	ENST00000295148.4	37	c.118C>T	CCDS1705.1	.	.	.	.	.	.	.	.	.	.	G	8.548	0.874935	0.17395	.	.	ENSG00000163026	ENST00000295148;ENST00000406895;ENST00000443232	T;T;T	0.43688	3.4;3.4;0.94	5.24	3.37	0.38596	.	0.488094	0.24352	N	0.039266	T	0.20740	0.0499	N	0.08118	0	0.09310	N	1	P;P	0.49447	0.61;0.924	B;B	0.40782	0.275;0.34	T	0.05209	-1.0899	10	0.39692	T	0.17	2.1853	7.5072	0.27551	0.1561:0.0:0.7084:0.1355	.	40;40	Q9H6R7-2;Q9H6R7	.;CB044_HUMAN	W	40	ENSP00000295148:R40W;ENSP00000385816:R40W;ENSP00000413426:R40W	ENSP00000295148:R40W	R	-	1	2	C2orf44	24115751	0.973000	0.33851	0.336000	0.25522	0.420000	0.31355	1.353000	0.34045	0.660000	0.30964	0.655000	0.94253	CGG		0.507	C2orf44-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000246825.1	NM_025203		3	59	0	0	0	1	0	3	59					A	24262247	G	A	24262247	3	1	133	1	0	0	0	0	1	0	0	0	2168	1086	38	1	2059	1	C2orf44	2	24262247	Missense_Mutation	SNP	G	TCGA-EJ-A7NN-01A-11D-A33T-08		24262247	218937126	7	6781											
DTNB	1838	broad.mit.edu	37	chr2	25851073	25851073	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caatcataaagttgaggaggAggctgatagattgttccaca	14	10	11	6	0	1	3	1	2	0	1	2	5	2	5	1	3	0	3	1	3	4	5			TCGA-EJ-A7NN-01A-11D-A33T-08	TCGA-EJ-A7NN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860c80f6-64b2-4089-87ee-8d64a6eba17b	c9b96788-9d99-4be5-a458-9e3d2c8755ea	g.chr2:25851073A>C	ENST00000406818.3	-	4	578	c.329T>G	c.(328-330)cTc>cGc	p.L110R	DTNB_ENST00000496972.2_Missense_Mutation_p.L53R|DTNB_ENST00000405222.1_Missense_Mutation_p.L110R|DTNB_ENST00000545439.1_5'UTR|DTNB_ENST00000407661.3_Missense_Mutation_p.L110R|DTNB_ENST00000407038.3_Missense_Mutation_p.L110R|DTNB_ENST00000288642.8_Missense_Mutation_p.L110R|DTNB_ENST00000404103.3_Missense_Mutation_p.L110R|DTNB_ENST00000472690.1_5'UTR|DTNB_ENST00000407186.1_Missense_Mutation_p.L110R	NM_001256303.1|NM_021907.4	NP_001243232.1|NP_068707.1	O60941	DTNB_HUMAN	dystrobrevin, beta	110						cytoplasm (GO:0005737)|synapse (GO:0045202)	calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(3)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	11	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GTTGAGGAGGAGGCTGATAGA	0.428																																						ENST00000406818.3																			0				endometrium(1)|large_intestine(3)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	11						c.(328-330)cTc>cGc		dystrobrevin, beta							155	146	149					2																	25851073		1973	4150	6123	SO:0001583	missense	1838					cytoplasm	calcium ion binding|zinc ion binding	g.chr2:25851073A>C	AF022728	CCDS46233.1, CCDS46234.1, CCDS46235.1, CCDS46236.1, CCDS46237.1, CCDS58702.1, CCDS74496.1	2p23.2	2008-05-15			ENSG00000138101	ENSG00000138101			3058	protein-coding gene	gene with protein product		602415				9419360	Standard	NM_021907		Approved		uc002rgh.4	O60941	OTTHUMG00000152129	ENST00000406818.3:c.329T>G	2.37:g.25851073A>C	ENSP00000384084:p.Leu110Arg					DTNB_ENST00000545439.1_5'UTR|DTNB_ENST00000496972.2_Missense_Mutation_p.L53R|DTNB_ENST00000472690.1_5'UTR|DTNB_ENST00000288642.8_Missense_Mutation_p.L110R|DTNB_ENST00000407661.3_Missense_Mutation_p.L110R|DTNB_ENST00000407038.3_Missense_Mutation_p.L110R|DTNB_ENST00000407186.1_Missense_Mutation_p.L110R|DTNB_ENST00000405222.1_Missense_Mutation_p.L110R|DTNB_ENST00000404103.3_Missense_Mutation_p.L110R	p.L110R	NM_001256303.1|NM_021907.4	NP_001243232.1|NP_068707.1	O60941	DTNB_HUMAN			4	578	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		110					B7Z733|F5GZG4|G5E9F6|O43782|O60881|O75538|Q86VR4|Q96AW0|Q9UE14|Q9UE15|Q9UE16	Missense_Mutation	SNP	ENST00000406818.3	37	c.329T>G	CCDS46237.1	.	.	.	.	.	.	.	.	.	.	A	23.5	4.419655	0.83559	.	.	ENSG00000138101	ENST00000496972;ENST00000406818;ENST00000404103;ENST00000407661;ENST00000407038;ENST00000405222;ENST00000407186;ENST00000288642;ENST00000303659;ENST00000349996	T;T;T;T;T;T;T;T;T;T	0.71341	-0.56;-0.56;-0.56;-0.56;-0.56;-0.56;-0.56;-0.56;-0.56;-0.56	5.12	5.12	0.69794	EF-hand domain, type 1 (1);EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	D	0.84424	0.5469	M	0.85630	2.765	0.80722	D	1	D;D;D;D;D;D;D;D;D	0.76494	0.995;0.999;0.996;0.999;0.996;0.995;0.998;0.995;0.996	D;D;D;D;D;D;D;D;D	0.78314	0.979;0.991;0.988;0.988;0.991;0.972;0.985;0.979;0.984	D	0.86892	0.2049	10	0.87932	D	0	-13.815	12.3114	0.54929	1.0:0.0:0.0:0.0	.	53;110;110;110;110;110;110;110;110	F5GZG4;O60941-3;B7Z6A9;E9PEY4;Q96AW0;O60941-2;O60941-4;G5E9F6;O60941	.;.;.;.;.;.;.;.;DTNB_HUMAN	R	53;110;110;110;110;110;110;110;110;110	ENSP00000444463:L53R;ENSP00000384084:L110R;ENSP00000385482:L110R;ENSP00000385193:L110R;ENSP00000384767:L110R;ENSP00000384787:L110R;ENSP00000385784:L110R;ENSP00000288642:L110R;ENSP00000306529:L110R;ENSP00000340957:L110R	ENSP00000288642:L110R	L	-	2	0	DTNB	25704577	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.309000	0.96252	1.935000	0.56089	0.533000	0.62120	CTC		0.428	DTNB-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000325361.1	NM_033147		7	26	0	0	0	1	0	7	26					C	25851073	A	C	25851073	3	2	133	1	0	0	0	0	1	0	0	0	4789	304	11	5	1622	5	DTNB	2	25851073	Missense_Mutation	SNP	A	TCGA-EJ-A7NN-01A-11D-A33T-08	1588826	25851073	217348300	8	6782											
CYTIP	9595	broad.mit.edu	37	chr2	158272280	158272280	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cacttccctttctgctcttcCggggcagggtcccaaacatg	6	11	9	15	1	2	0	0	0	2	0	5	0	5	0	3	3	2	2	3	3	1	3	rs202198683		TCGA-EJ-A7NN-01A-11D-A33T-08	TCGA-EJ-A7NN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860c80f6-64b2-4089-87ee-8d64a6eba17b	c9b96788-9d99-4be5-a458-9e3d2c8755ea	g.chr2:158272280C>T	ENST00000264192.3	-	8	1110	c.989G>A	c.(988-990)cGg>cAg	p.R330Q	CYTIP_ENST00000540637.1_Missense_Mutation_p.R224Q	NM_004288.4	NP_004279.3	O60759	CYTIP_HUMAN	cytohesin 1 interacting protein	330					regulation of cell adhesion (GO:0030155)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|endosome (GO:0005768)|nucleus (GO:0005634)				breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	15						TCTGCTCTTCCGGGGCAGGGT	0.512													C|||	1	0.000199681	0	0	5008	,	,		19026	0.001		0	False		,,,				2504	0					ENST00000264192.3																			0				breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	15						c.(988-990)cGg>cAg		cytohesin 1 interacting protein							95	90	92					2																	158272280		2203	4300	6503	SO:0001583	missense	9595				regulation of cell adhesion	cell cortex|early endosome	protein binding	g.chr2:158272280C>T	L06633	CCDS2204.1	2q11.2	2011-09-08	2008-08-14	2008-08-19	ENSG00000115165	ENSG00000115165			9506	protein-coding gene	gene with protein product	"cytohesin binding protein HE", "cytohesin binder and regulator"	604448	"pleckstrin homology, Sec7 and coiled-coil domains, binding protein"	PSCDBP		18926288, 10343115, 11867758, 20530790, 21562043	Standard	NM_004288		Approved	B3-1, HE, CYBR, CASP, CYTHIP	uc002tzj.1	O60759	OTTHUMG00000154551	ENST00000264192.3:c.989G>A	2.37:g.158272280C>T	ENSP00000264192:p.Arg330Gln					CYTIP_ENST00000540637.1_Missense_Mutation_p.R224Q	p.R330Q	NM_004288.4	NP_004279.3	O60759	CYTIP_HUMAN			8	1110	-			330					B4DWH9|Q15630|Q8NE32	Missense_Mutation	SNP	ENST00000264192.3	37	c.989G>A	CCDS2204.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	36	5.608138	0.96626	.	.	ENSG00000115165	ENST00000264192;ENST00000540637	T;T	0.63417	1.19;-0.04	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.80849	0.4702	M	0.76002	2.32	0.47698	D	0.999498	D	0.89917	1.0	D	0.87578	0.998	T	0.80023	-0.1556	10	0.62326	D	0.03	-16.9359	20.4745	0.99168	0.0:1.0:0.0:0.0	.	330	O60759	CYTIP_HUMAN	Q	330;224	ENSP00000264192:R330Q;ENSP00000440801:R224Q	ENSP00000264192:R330Q	R	-	2	0	CYTIP	157980526	0.940000	0.31905	0.993000	0.49108	0.988000	0.76386	6.523000	0.73787	2.941000	0.99782	0.655000	0.94253	CGG		0.512	CYTIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254926.1	NM_004288		25	44	0	0	0	1	0	25	44					T	158272280	C	T	158272280	3	4	133	1	0	0	0	0	1	0	0	0	4207	652	23	2	94	2	CYTIP	2	158272280	Missense_Mutation	SNP	C	TCGA-EJ-A7NN-01A-11D-A33T-08	132421207	158272280	84927093	9	6783											
CCDC141	285025	broad.mit.edu	37	chr2	179702125	179702125	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctcttatcattgcatgcaTccgcaaaggcaacaggtggt	10	11	9	11	1	2	0	1	0	1	0	4	0	3	0	1	3	3	4	1	3	3	2			TCGA-EJ-A7NN-01A-11D-A33T-08	TCGA-EJ-A7NN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860c80f6-64b2-4089-87ee-8d64a6eba17b	c9b96788-9d99-4be5-a458-9e3d2c8755ea	g.chr2:179702125T>A	ENST00000420890.2	-	23	3938	c.3821A>T	c.(3820-3822)gAt>gTt	p.D1274V	CCDC141_ENST00000295723.5_Missense_Mutation_p.D699V|CCDC141_ENST00000480419.1_5'UTR	NM_173648.3	NP_775919.3	Q6ZP82	CC141_HUMAN	coiled-coil domain containing 141	1274										NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)	78			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)			ATTGCATGCATCCGCAAAGGC	0.522																																						ENST00000420890.2																			0				NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)	78						c.(3820-3822)gAt>gTt		coiled-coil domain containing 141							84	85	85					2																	179702125		2203	4300	6503	SO:0001583	missense	285025						protein binding	g.chr2:179702125T>A	AK096821		2q31.2	2013-01-14			ENSG00000163492	ENSG00000163492		"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	26821	protein-coding gene	gene with protein product	"coiled-coil protein associated with myosin II and DISC1"					20956536	Standard	NM_173648		Approved	FLJ39502, CAMDI	uc002une.2	Q6ZP82	OTTHUMG00000132578	ENST00000420890.2:c.3821A>T	2.37:g.179702125T>A	ENSP00000395995:p.Asp1274Val					CCDC141_ENST00000480419.1_5'UTR|CCDC141_ENST00000295723.5_Missense_Mutation_p.D699V	p.D1274V	NM_173648.3	NP_775919.3	Q6ZP82	CC141_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)		23	3938	-			699					H7C0P1|J3KNW6|Q8N8H3	Missense_Mutation	SNP	ENST00000420890.2	37	c.3821A>T		.	.	.	.	.	.	.	.	.	.	T	20.7	4.031787	0.75504	.	.	ENSG00000163492	ENST00000420890;ENST00000343876;ENST00000295723	T;T;T	0.57907	0.37;0.95;0.95	4.84	4.84	0.62591	.	0.295669	0.28624	N	0.014699	T	0.67088	0.2856	L	0.55481	1.735	0.54753	D	0.999981	D;D	0.71674	0.998;0.998	D;D	0.69479	0.964;0.964	T	0.70809	-0.4771	10	0.87932	D	0	-7.2851	15.1269	0.72489	0.0:0.0:0.0:1.0	.	699;699	Q6ZP82;Q6ZP82-2	CC141_HUMAN;.	V	1274;718;699	ENSP00000395995:D1274V;ENSP00000344627:D718V;ENSP00000295723:D699V	ENSP00000295723:D699V	D	-	2	0	CCDC141	179410370	1.000000	0.71417	0.462000	0.27118	0.983000	0.72400	3.904000	0.56325	2.100000	0.63781	0.528000	0.53228	GAT		0.522	CCDC141-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_173648		23	38	0	0	0	1	0	23	38					A	179702125	T	A	179702125	3	1	133	1	0	0	0	0	1	0	0	0	2775	1435	50	5	535	5	CCDC141	2	179702125	Missense_Mutation	SNP	T	TCGA-EJ-A7NN-01A-11D-A33T-08	21429845	179702125	63497248	10	6784											
PDE6D	5147	broad.mit.edu	37	chr2	232602765	232602765	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtaaactttttgttccaggcGgaatttttccatttgttctg	7	19	8	7	1	1	0	0	0	1	0	3	1	3	1	2	2	1	3	2	2	3	8			TCGA-EJ-A7NN-01A-11D-A33T-08	TCGA-EJ-A7NN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860c80f6-64b2-4089-87ee-8d64a6eba17b	c9b96788-9d99-4be5-a458-9e3d2c8755ea	g.chr2:232602765G>A	ENST00000287600.4	-	3	417	c.223C>T	c.(223-225)Cgc>Tgc	p.R75C	PDE6D_ENST00000409772.1_Missense_Mutation_p.R75C	NM_002601.2	NP_002592.1	O43924	PDE6D_HUMAN	phosphodiesterase 6D, cGMP-specific, rod, delta	75					regulation of GTP catabolic process (GO:0033124)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|membrane (GO:0016020)	3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|GTPase inhibitor activity (GO:0005095)|Rab GTPase binding (GO:0017137)	p.R75C(1)		endometrium(1)|large_intestine(1)|lung(2)|skin(1)	5		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.142)		Epithelial(121;2.19e-12)|BRCA - Breast invasive adenocarcinoma(100;0.00145)|LUSC - Lung squamous cell carcinoma(224;0.0125)|Lung(119;0.0154)		TGTTCCAGGCGGAATTTTTCC	0.443																																						ENST00000287600.4																			1	Substitution - Missense(1)	p.R75C(1)	large_intestine(1)	endometrium(1)|large_intestine(1)|lung(2)|skin(1)	5						c.(223-225)Cgc>Tgc		phosphodiesterase 6D, cGMP-specific, rod, delta							143	132	136					2																	232602765		2203	4300	6503	SO:0001583	missense	5147				regulation of GTP catabolic process|response to stimulus|visual perception		3',5'-cyclic-nucleotide phosphodiesterase activity|GTPase inhibitor activity|protein binding	g.chr2:232602765G>A	AF045999	CCDS33398.1	2q35-q36	2014-04-28			ENSG00000156973	ENSG00000156973	3.1.4.17	"Phosphodiesterases"	8788	protein-coding gene	gene with protein product		602676				9533031, 9570951	Standard	NM_002601		Approved	JBTS22	uc002vse.1	O43924	OTTHUMG00000153785	ENST00000287600.4:c.223C>T	2.37:g.232602765G>A	ENSP00000287600:p.Arg75Cys					PDE6D_ENST00000409772.1_Missense_Mutation_p.R75C	p.R75C	NM_002601.2	NP_002592.1	O43924	PDE6D_HUMAN		Epithelial(121;2.19e-12)|BRCA - Breast invasive adenocarcinoma(100;0.00145)|LUSC - Lung squamous cell carcinoma(224;0.0125)|Lung(119;0.0154)	3	417	-		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.142)	75					O43250	Missense_Mutation	SNP	ENST00000287600.4	37	c.223C>T	CCDS33398.1	.	.	.	.	.	.	.	.	.	.	G	16.51	3.144284	0.57044	.	.	ENSG00000156973	ENST00000287600;ENST00000409772;ENST00000428104	.	.	.	5.65	5.65	0.86999	Immunoglobulin E-set (1);	0.047608	0.85682	D	0.000000	T	0.63698	0.2533	M	0.85462	2.755	0.80722	D	1	B;P	0.48694	0.445;0.914	B;B	0.41619	0.09;0.361	T	0.71968	-0.4432	9	0.62326	D	0.03	-3.6776	14.5602	0.68130	0.0:0.0:0.8538:0.1462	.	75;75	B8ZZK5;O43924	.;PDE6D_HUMAN	C	75;75;56	.	ENSP00000287600:R75C	R	-	1	0	PDE6D	232311009	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	3.826000	0.55738	2.660000	0.90430	0.467000	0.42956	CGC		0.443	PDE6D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332407.1			22	36	0	0	0	1	0	22	36					A	232602765	G	A	232602765	3	1	133	1	0	0	0	0	1	0	0	0	11648	1116	39	2	241	2	PDE6D	2	232602765	Missense_Mutation	SNP	G	TCGA-EJ-A7NN-01A-11D-A33T-08	52900640	232602765	10596608	11	6785											
NEU2	4759	broad.mit.edu	37	chr2	233898824	233898824	+	Splice_Site	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctttctctctccctactcAgtggcaagctcaggaggtgg	6	13	10	12	0	5	0	2	0	3	0	7	1	5	1	1	4	2	2	1	4	2	3			TCGA-EJ-A7NN-01A-11D-A33T-08	TCGA-EJ-A7NN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860c80f6-64b2-4089-87ee-8d64a6eba17b	c9b96788-9d99-4be5-a458-9e3d2c8755ea	g.chr2:233898824A>C	ENST00000233840.3	+	2	201		c.e2-1			NM_005383.2	NP_005374.2	Q9Y3R4	NEUR2_HUMAN	sialidase 2 (cytosolic sialidase)						ganglioside catabolic process (GO:0006689)|glycosphingolipid metabolic process (GO:0006687)|oligosaccharide catabolic process (GO:0009313)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	exo-alpha-(2->3)-sialidase activity (GO:0052794)|exo-alpha-(2->6)-sialidase activity (GO:0052795)|exo-alpha-(2->8)-sialidase activity (GO:0052796)			endometrium(3)|large_intestine(2)|lung(10)|skin(2)|urinary_tract(1)	18		Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0271)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0839)		Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000311)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)|GBM - Glioblastoma multiforme(43;0.0488)	Oseltamivir(DB00198)|Zanamivir(DB00558)	CTCCCTACTCAGTGGCAAGCT	0.637																																						ENST00000233840.3																			0				endometrium(3)|large_intestine(2)|lung(10)|skin(2)|urinary_tract(1)	18						c.e2-1		sialidase 2 (cytosolic sialidase)							82	82	82					2																	233898824		2203	4300	6503	SO:0001630	splice_region_variant	4759						exo-alpha-sialidase activity	g.chr2:233898824A>C	Y16535	CCDS2501.1	2q37	2008-05-27			ENSG00000115488	ENSG00000115488			7759	protein-coding gene	gene with protein product	"N-acetyl-alpha-neuraminidase 2"	605528				10191093, 14613940	Standard	NM_005383		Approved	SIAL2	uc010zmn.2	Q9Y3R4	OTTHUMG00000133274	ENST00000233840.3:c.202-1A>C	2.37:g.233898824A>C								NM_005383.2	NP_005374.2	Q9Y3R4	NEUR2_HUMAN		Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000311)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)|GBM - Glioblastoma multiforme(43;0.0488)	2	201	+		Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0271)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0839)						Q3KNW4|Q6NTB4	Splice_Site	SNP	ENST00000233840.3	37		CCDS2501.1	.	.	.	.	.	.	.	.	.	.	A	17.57	3.421427	0.62622	.	.	ENSG00000115488	ENST00000233840	.	.	.	4.73	4.73	0.59995	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.4315	0.61057	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	NEU2	233607068	1.000000	0.71417	0.999000	0.59377	0.837000	0.47467	6.260000	0.72502	1.765000	0.52091	0.459000	0.35465	.		0.637	NEU2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257053.2	NM_005383	Intron	23	56	0	0	0	1	0	23	56					C	233898824	A	C	233898824	5	2	133	1	0	0	0	0	0	0	1	0	10342	202	7	5	206	5	NEU2	2	233898824	Splice_Site	SNP	A	TCGA-EJ-A7NN-01A-11D-A33T-08	1296059	233898824	9300549	12	6786											
TXNDC6	347736	broad.mit.edu	37	chr3	138036991	138036991	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	attctgaaaatgtacttactGcataaaacagaaaggttggc	16	11	8	6	0	1	2	0	1	1	1	1	2	1	2	0	2	4	3	0	2	7	5			TCGA-EJ-A7NN-01A-11D-A33T-08	TCGA-EJ-A7NN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860c80f6-64b2-4089-87ee-8d64a6eba17b	c9b96788-9d99-4be5-a458-9e3d2c8755ea	g.chr3:138036991G>A	ENST00000333911.3	-	4	293	c.266C>T	c.(265-267)gCa>gTa	p.A89V	NME9_ENST00000536478.1_Splice_Site_p.A67V|NME9_ENST00000341790.5_Intron|NME9_ENST00000317876.4_Splice_Site_p.A67V|NME9_ENST00000484930.1_Intron|NME9_ENST00000383180.2_Splice_Site_p.A67V			Q86XW9	TXND6_HUMAN	NME/NM23 family member 9	89	Thioredoxin.				cell redox homeostasis (GO:0045454)|CTP biosynthetic process (GO:0006241)|GTP biosynthetic process (GO:0006183)|UTP biosynthetic process (GO:0006228)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	ATP binding (GO:0005524)|nucleoside diphosphate kinase activity (GO:0004550)										TGTACTTACTGCATAAAACAG	0.398																																						ENST00000383180.2																			0											c.e6+1		NME/NM23 family member 9							130	117	121					3																	138036991		2203	4300	6503	SO:0001630	splice_region_variant	347736				cell redox homeostasis|CTP biosynthetic process|GTP biosynthetic process|UTP biosynthetic process	cytoplasm|cytoskeleton	ATP binding|nucleoside diphosphate kinase activity	g.chr3:138036991G>A	AF196568	CCDS3099.1	3q22.3	2012-05-18	2012-05-18	2011-08-24	ENSG00000181322	ENSG00000181322			21343	protein-coding gene	gene with protein product			"thioredoxin domain containing 6", "NME gene family member 9", "NME family member 9"	TXNDC6		12569107, 19852809	Standard	NM_178130		Approved	TXL-2, NM23-H9	uc003ese.1	Q86XW9	OTTHUMG00000159823	ENST00000333911.3:c.267+1C>T	3.37:g.138036991G>A						NME9_ENST00000536478.1_Splice_Site_p.A67_splice|NME9_ENST00000484930.1_Intron|NME9_ENST00000333911.3_Splice_Site_p.A89_splice|NME9_ENST00000341790.5_Intron|NME9_ENST00000317876.4_Splice_Site_p.A67_splice	p.A67_splice	NM_178130.2	NP_835231.1	Q86XW9	TXND6_HUMAN			6	437	-			89			Thioredoxin.		Q7Z4A8|Q8N1V7	Splice_Site	SNP	ENST00000333911.3	37	c.201_splice		.	.	.	.	.	.	.	.	.	.	G	15.63	2.889411	0.52014	.	.	ENSG00000181322	ENST00000383180;ENST00000317876;ENST00000536478;ENST00000333911;ENST00000475751	T;T;T;T;T	0.13196	3.96;3.96;3.96;2.61;2.61	5.08	5.08	0.68730	Thioredoxin domain (1);Thioredoxin-like fold (2);	0.191707	0.44688	D	0.000423	T	0.08891	0.0220	N	0.10685	0.025	0.80722	D	1	B;B	0.13145	0.004;0.007	B;B	0.15052	0.005;0.012	T	0.19844	-1.0293	10	0.46703	T	0.11	-16.9493	15.9633	0.79948	0.0:0.0:1.0:0.0	.	89;67	Q86XW9;Q86XW9-2	TXND6_HUMAN;.	V	67;67;67;89;89	ENSP00000372667:A67V;ENSP00000321929:A67V;ENSP00000440143:A67V;ENSP00000335444:A89V;ENSP00000419147:A89V	ENSP00000321929:A67V	A	-	2	0	TXNDC6	139519681	1.000000	0.71417	0.998000	0.56505	0.943000	0.58893	5.011000	0.64011	2.357000	0.79964	0.491000	0.48974	GCA		0.398	NME9-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000357583.1	NM_178130	Missense_Mutation	3	40	0	0	0	1	0	3	40					A	138036991	G	A	138036991	5	1	133	1	0	0	0	0	0	0	1	0	16797	1333	46	3	619	3	TXNDC6	3	138036991	Splice_Site	SNP	G	TCGA-EJ-A7NN-01A-11D-A33T-08		138036991	59985439	13	6787											
IGSF10	285313	broad.mit.edu	37	chr3	151164521	151164521	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaaggtgatgggagcagcaCttggaaaagacaatgctgct	13	7	15	6	0	0	2	0	1	0	1	0	5	0	5	0	4	4	4	0	4	4	1			TCGA-EJ-A7NN-01A-11D-A33T-08	TCGA-EJ-A7NN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860c80f6-64b2-4089-87ee-8d64a6eba17b	c9b96788-9d99-4be5-a458-9e3d2c8755ea	g.chr3:151164521C>T	ENST00000282466.3	-	4	3247	c.3248G>A	c.(3247-3249)aGt>aAt	p.S1083N		NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	1083					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)	extracellular region (GO:0005576)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			GGGAGCAGCACTTGGAAAAGA	0.488																																						ENST00000282466.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116						c.(3247-3249)aGt>aAt		immunoglobulin superfamily, member 10							134	136	135					3																	151164521		2203	4300	6503	SO:0001583	missense	285313				cell differentiation|multicellular organismal development|ossification	extracellular region		g.chr3:151164521C>T	AY273815	CCDS3160.1	3q25.1	2013-01-11			ENSG00000152580	ENSG00000152580		"Immunoglobulin superfamily / I-set domain containing"	26384	protein-coding gene	gene with protein product						12477932	Standard	NM_178822		Approved	FLJ25972, CMF608	uc011bod.2	Q6WRI0	OTTHUMG00000159856	ENST00000282466.3:c.3248G>A	3.37:g.151164521C>T	ENSP00000282466:p.Ser1083Asn						p.S1083N	NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)		4	3247	-			1083					Q86YJ9|Q8N772|Q8NA84	Missense_Mutation	SNP	ENST00000282466.3	37	c.3248G>A	CCDS3160.1	.	.	.	.	.	.	.	.	.	.	C	10.05	1.244253	0.22796	.	.	ENSG00000152580	ENST00000282466	T	0.69306	-0.39	5.46	1.44	0.22558	.	0.983709	0.08281	N	0.969987	T	0.48409	0.1498	L	0.32530	0.975	0.09310	N	1	P	0.38922	0.651	B	0.30401	0.115	T	0.14868	-1.0457	10	0.14252	T	0.57	.	9.215	0.37342	0.0:0.3947:0.4677:0.1376	.	1083	Q6WRI0	IGS10_HUMAN	N	1083	ENSP00000282466:S1083N	ENSP00000282466:S1083N	S	-	2	0	IGSF10	152647211	0.001000	0.12720	0.000000	0.03702	0.023000	0.10783	-0.080000	0.11339	-0.019000	0.14055	0.591000	0.81541	AGT		0.488	IGSF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357782.1	NM_178822		33	79	0	0	0	1	0	33	79					T	151164521	C	T	151164521	3	4	133	1	0	0	0	0	1	0	0	0	7597	565	20	3	4683	3	IGSF10	3	151164521	Missense_Mutation	SNP	C	TCGA-EJ-A7NN-01A-11D-A33T-08	13127530	151164521	46857909	14	6788											
LETM1	3954	broad.mit.edu	37	chr4	1821092	1821092	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tagtcctgcacatcctccttCagcagctccagctcctcctt	6	12	5	18	0	1	0	1	0	0	0	7	0	7	0	6	0	4	4	6	0	1	3			TCGA-EJ-A7NN-01A-11D-A33T-08	TCGA-EJ-A7NN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860c80f6-64b2-4089-87ee-8d64a6eba17b	c9b96788-9d99-4be5-a458-9e3d2c8755ea	g.chr4:1821092C>T	ENST00000302787.2	-	11	2012	c.1716G>A	c.(1714-1716)ctG>ctA	p.L572L		NM_012318.2	NP_036450.1	O95202	LETM1_HUMAN	leucine zipper-EF-hand containing transmembrane protein 1	572					cristae formation (GO:0042407)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(2)|large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1)	13			all cancers(2;0.00756)|OV - Ovarian serous cystadenocarcinoma(23;0.00989)|Epithelial(3;0.0141)			CATCCTCCTTCAGCAGCTCCA	0.527																																						ENST00000302787.2																			0				breast(3)|central_nervous_system(2)|large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1)	13						c.(1714-1716)ctG>ctA		leucine zipper-EF-hand containing transmembrane protein 1							131	105	114					4																	1821092		2203	4300	6503	SO:0001819	synonymous_variant	3954				cristae formation	integral to membrane|mitochondrial inner membrane	calcium ion binding|protein binding	g.chr4:1821092C>T	AF061025	CCDS3355.1	4p16.3	2013-01-10			ENSG00000168924	ENSG00000168924		"EF-hand domain containing"	6556	protein-coding gene	gene with protein product	"Mdm38 homolog (yeast)"	604407				10486213	Standard	NM_012318		Approved		uc003gdv.3	O95202	OTTHUMG00000121149	ENST00000302787.2:c.1716G>A	4.37:g.1821092C>T							p.L572L	NM_012318.2	NP_036450.1	O95202	LETM1_HUMAN	all cancers(2;0.00756)|OV - Ovarian serous cystadenocarcinoma(23;0.00989)|Epithelial(3;0.0141)		11	2012	-			572					B4DED2|Q9UF65	Silent	SNP	ENST00000302787.2	37	c.1716G>A	CCDS3355.1																																																																																				0.527	LETM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241634.1			27	24	0	0	0	1	0	27	24					T	1821092	C	T	1821092	2	4	133	1	0	0	0	0	0	0	0	1	8734	813	29	3		3	LETM1	4	1821092	Silent	SNP	C	TCGA-EJ-A7NN-01A-11D-A33T-08		1821092	189333184	15	6789											
PGM2	55276	broad.mit.edu	37	chr4	37836309	37836309	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcatcgtgatcagttttgacGcccgagctcatccatccagt	8	11	9	13	3	2	2	2	2	0	0	5	3	4	2	3	0	1	3	3	0	0	2	rs376082425		TCGA-EJ-A7NN-01A-11D-A33T-08	TCGA-EJ-A7NN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860c80f6-64b2-4089-87ee-8d64a6eba17b	c9b96788-9d99-4be5-a458-9e3d2c8755ea	g.chr4:37836309G>A	ENST00000381967.4	+	3	419	c.319G>A	c.(319-321)Gcc>Acc	p.A107T	PGM2_ENST00000544359.1_5'UTR|PGM2_ENST00000537241.1_Intron	NM_018290.3	NP_060760.2	Q96G03	PGM2_HUMAN	phosphoglucomutase 2	107					carbohydrate metabolic process (GO:0005975)|deoxyribose phosphate catabolic process (GO:0046386)|galactose catabolic process (GO:0019388)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|glycogen catabolic process (GO:0005980)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	magnesium ion binding (GO:0000287)|phosphoglucomutase activity (GO:0004614)|phosphopentomutase activity (GO:0008973)			breast(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(2)|urinary_tract(1)	19						CAGTTTTGACGCCCGAGCTCA	0.343																																						ENST00000381967.4																			0				breast(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(2)|urinary_tract(1)	19						c.(319-321)Gcc>Acc		phosphoglucomutase 2		G	THR/ALA	1,4405	2.1+/-5.4	0,1,2202	89	99	95		319	6.1	0.9	4		95	0,8600		0,0,4300	no	missense	PGM2	NM_018290.3	58	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	107/613	37836309	1,13005	2203	4300	6503	SO:0001583	missense	55276				glucose 1-phosphate metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol	magnesium ion binding|phosphoglucomutase activity|phosphopentomutase activity	g.chr4:37836309G>A	BC010087	CCDS3443.1	4p14	2012-10-02			ENSG00000169299	ENSG00000169299	5.4.2.2		8906	protein-coding gene	gene with protein product	"phosphopentomutase"	172000				9549096	Standard	NM_018290		Approved	FLJ10983	uc011byb.1	Q96G03	OTTHUMG00000097813	ENST00000381967.4:c.319G>A	4.37:g.37836309G>A	ENSP00000371393:p.Ala107Thr					PGM2_ENST00000537241.1_Intron|PGM2_ENST00000544359.1_5'UTR	p.A107T	NM_018290.3	NP_060760.2	Q96G03	PGM2_HUMAN			3	419	+			107					B4E0G8|Q53FP5|Q5QTR0|Q9H0P9|Q9NV22	Missense_Mutation	SNP	ENST00000381967.4	37	c.319G>A	CCDS3443.1	.	.	.	.	.	.	.	.	.	.	G	15.70	2.910334	0.52439	2.27E-4	0.0	ENSG00000169299	ENST00000381967	T	0.61274	0.12	6.05	6.05	0.98169	Alpha-D-phosphohexomutase, alpha/beta/alpha domain I (1);Alpha-D-phosphohexomutase, alpha/beta/alpha I/II/III (2);	0.093804	0.64402	D	0.000001	T	0.51873	0.1700	L	0.33792	1.035	0.80722	D	1	B	0.15141	0.012	B	0.22753	0.041	T	0.36720	-0.9736	10	0.28530	T	0.3	-11.796	20.6013	0.99457	0.0:0.0:1.0:0.0	.	107	Q96G03	PGM2_HUMAN	T	107	ENSP00000371393:A107T	ENSP00000371393:A107T	A	+	1	0	PGM2	37512704	1.000000	0.71417	0.913000	0.36048	0.039000	0.13416	6.277000	0.72608	2.878000	0.98634	0.650000	0.86243	GCC		0.343	PGM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215079.2	NM_018290		3	51	0	0	0	1	0	3	51					A	37836309	G	A	37836309	3	1	133	1	0	0	0	0	1	0	0	0	11798	1087	38	1	329	1	PGM2	4	37836309	Missense_Mutation	SNP	G	TCGA-EJ-A7NN-01A-11D-A33T-08	36015217	37836309	153317967	16	6790											
PCDHA6	56142	broad.mit.edu	37	chr5	140209518	140209518	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcgtatgagctgcagcccccGgcaagcagcgctcgcttccc	6	7	11	17	4	0	1	0	1	0	0	3	1	1	1	3	1	5	7	3	1	2	2			TCGA-EJ-A7NN-01A-11D-A33T-08	TCGA-EJ-A7NN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860c80f6-64b2-4089-87ee-8d64a6eba17b	c9b96788-9d99-4be5-a458-9e3d2c8755ea	g.chr5:140209518G>A	ENST00000529310.1	+	1	1956	c.1842G>A	c.(1840-1842)ccG>ccA	p.P614P	PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron	NM_018909.2|NM_031848.2|NM_031849.1	NP_061732.1|NP_114036.1|NP_114037.1	Q9UN73	PCDA6_HUMAN	protocadherin alpha 6	614	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.P614P(2)		NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	89			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGCAGCCCCCGGCAAGCAGCG	0.672																																						ENST00000529310.1																			2	Substitution - coding silent(2)	p.P614P(2)	endometrium(2)	NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						c.(1840-1842)ccG>ccA									72	75	74					5																	140209518		2203	4300	6503	SO:0001819	synonymous_variant	0							g.chr5:140209518G>A	AF152484	CCDS47281.1, CCDS47282.1	5q31	2010-11-26			ENSG00000081842	ENSG00000081842		"Cadherins / Protocadherins : Clustered"	8672	other	complex locus constituent	"KIAA0345-like 8"	606312		CNRS2		10380929, 10662547	Standard	NM_018909		Approved	CNR2, CRNR2, PCDH-ALPHA6		Q9UN73	OTTHUMG00000163353	ENST00000529310.1:c.1842G>A	5.37:g.140209518G>A						PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron	p.P614P	NM_018909.2|NM_031848.1|NM_031849.1	NP_061732.1|NP_114036.1|NP_114037.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1956	+								O75283|Q9NRT8	Silent	SNP	ENST00000529310.1	37	c.1842G>A	CCDS47281.1																																																																																				0.672	PCDHA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372829.3	NM_018909		26	74	0	0	0	1	0	26	74					A	140209518	G	A	140209518	2	1	133	1	0	0	0	0	0	0	0	1	11528	1103	39	2		2	PCDHA6	5	140209518	Silent	SNP	G	TCGA-EJ-A7NN-01A-11D-A33T-08		140209518	40705742	17	6791											
PCDHB10	56126	broad.mit.edu	37	chr5	140574091	140574091	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcctcctcgctcggccaccGccacgctgcacttgctcctg	4	8	9	20	4	0	0	0	0	0	0	4	0	2	0	6	1	3	4	6	1	0	1			TCGA-EJ-A7NN-01A-11D-A33T-08	TCGA-EJ-A7NN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860c80f6-64b2-4089-87ee-8d64a6eba17b	c9b96788-9d99-4be5-a458-9e3d2c8755ea	g.chr5:140574091G>A	ENST00000239446.4	+	1	2150	c.1966G>A	c.(1966-1968)Gcc>Acc	p.A656T		NM_018930.3	NP_061753.1	Q9UN67	PCDBA_HUMAN	protocadherin beta 10	656	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(30)|ovary(4)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	76			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CTCGGCCACCGCCACGCTGCA	0.711																																						ENST00000239446.4																			0				breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(30)|ovary(4)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	76						c.(1966-1968)Gcc>Acc									23	26	25					5																	140574091		2050	3895	5945	SO:0001583	missense	0				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140574091G>A	AF152489	CCDS4252.1	5q31.3	2010-06-15			ENSG00000120324	ENSG00000120324		"Cadherins / Protocadherins : Clustered"	8681	other	protocadherin		606336				10380929	Standard	NM_018930		Approved		uc003lix.3	Q9UN67	OTTHUMG00000129626	ENST00000239446.4:c.1966G>A	5.37:g.140574091G>A	ENSP00000239446:p.Ala656Thr						p.A656T	NM_018930.3	NP_061753.1	Q9UN67	PCDBA_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	2150	+			656			Cadherin 6.		Q96T99	Missense_Mutation	SNP	ENST00000239446.4	37	c.1966G>A	CCDS4252.1	.	.	.	.	.	.	.	.	.	.	g	12.07	1.826506	0.32329	.	.	ENSG00000120324	ENST00000239446	T	0.50548	0.74	3.03	3.03	0.35002	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.41719	0.1171	L	0.41906	1.305	0.23168	N	0.998185	B	0.11235	0.004	B	0.12837	0.008	T	0.44019	-0.9355	9	0.66056	D	0.02	.	14.1979	0.65684	0.0:0.0:1.0:0.0	.	656	Q9UN67	PCDBA_HUMAN	T	656	ENSP00000239446:A656T	ENSP00000239446:A656T	A	+	1	0	PCDHB10	140554275	0.005000	0.15991	1.000000	0.80357	0.365000	0.29674	1.367000	0.34204	1.704000	0.51252	0.298000	0.19748	GCC		0.711	PCDHB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251821.1	NM_018930		18	69	0	0	0	1	0	18	69					A	140574091	G	A	140574091	3	1	133	1	0	0	0	0	1	0	0	0	11535	1087	38	1	1968	1	PCDHB10	5	140574091	Missense_Mutation	SNP	G	TCGA-EJ-A7NN-01A-11D-A33T-08	364573	140574091	40341169	18	6792											
ADAMTS2	9509	broad.mit.edu	37	chr5	178634658	178634658	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccgcctcgagctgttggcGtgctcctctaggacgcccag	4	9	12	16	4	1	0	0	0	1	0	4	2	3	1	4	2	2	3	4	2	1	2			TCGA-EJ-A7NN-01A-11D-A33T-08	TCGA-EJ-A7NN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860c80f6-64b2-4089-87ee-8d64a6eba17b	c9b96788-9d99-4be5-a458-9e3d2c8755ea	g.chr5:178634658G>A	ENST00000251582.7	-	4	848	c.747C>T	c.(745-747)caC>caT	p.H249H	ADAMTS2_ENST00000274609.5_Silent_p.H249H	NM_014244.4	NP_055059.2	O95450	ATS2_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 2	249					collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|lung development (GO:0030324)|protein processing (GO:0016485)|skin development (GO:0043588)|spermatogenesis (GO:0007283)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)		AGCTGTTGGCGTGCTCCTCTA	0.657																																						ENST00000251582.7																			0				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72						c.(745-747)caC>caT		ADAM metallopeptidase with thrombospondin type 1 motif, 2							109	92	98					5																	178634658		2203	4300	6503	SO:0001819	synonymous_variant	9509				collagen catabolic process	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:178634658G>A	AJ003125	CCDS4444.1, CCDS34311.1	5q23-q24	2008-07-18	2005-08-19		ENSG00000087116	ENSG00000087116		"ADAM metallopeptidases with thrombospondin type 1 motif"	218	protein-coding gene	gene with protein product	"procollagen I N-proteinase", "procollagen N-endopeptidase"	604539	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 2"			10094461, 15373769	Standard	NM_014244		Approved	ADAMTS-3, hPCPNI, PCINP, ADAM-TS2, NPI	uc003mjw.3	O95450	OTTHUMG00000130915	ENST00000251582.7:c.747C>T	5.37:g.178634658G>A						ADAMTS2_ENST00000274609.5_Silent_p.H249H	p.H249H	NM_014244.4	NP_055059.2	O95450	ATS2_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)	4	848	-	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	249						Silent	SNP	ENST00000251582.7	37	c.747C>T	CCDS4444.1																																																																																				0.657	ADAMTS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253507.1	NM_014244		6	96	0	0	0	1	0	6	96					A	178634658	G	A	178634658	2	1	133	1	0	0	0	0	0	0	0	1	265	1136	40	1		1	ADAMTS2	5	178634658	Silent	SNP	G	TCGA-EJ-A7NN-01A-11D-A33T-08	38060567	178634658	2280602	19	6793											
LRFN2	57497	broad.mit.edu	37	chr6	40359850	40359850	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgcccggcacgacccctccCgccgccgcagcagcaaagtc	7	2	10	22	6	0	0	0	0	0	0	2	1	1	0	7	1	2	4	7	1	1	0	rs201948377		TCGA-EJ-A7NN-01A-11D-A33T-08	TCGA-EJ-A7NN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860c80f6-64b2-4089-87ee-8d64a6eba17b	c9b96788-9d99-4be5-a458-9e3d2c8755ea	g.chr6:40359850C>T	ENST00000338305.6	-	3	2744	c.2202G>A	c.(2200-2202)gcG>gcA	p.A734A		NM_020737.1	NP_065788.1	Q9ULH4	LRFN2_HUMAN	leucine rich repeat and fibronectin type III domain containing 2	734						cell junction (GO:0030054)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	58	Ovarian(28;0.0418)|Colorectal(47;0.196)					CGACCCCTCCCGCCGCCGCAG	0.672																																						ENST00000338305.6																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	58						c.(2200-2202)gcG>gcA		leucine rich repeat and fibronectin type III domain containing 2							22	22	22					6																	40359850		2194	4289	6483	SO:0001819	synonymous_variant	57497					cell junction|integral to membrane|postsynaptic membrane		g.chr6:40359850C>T	AB033072	CCDS34443.1	6p21.2-p21.1	2013-02-11	2004-02-02	2004-02-04	ENSG00000156564	ENSG00000156564		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	21226	protein-coding gene	gene with protein product	"fibronectin type III, immunoglobulin and leucine rich repeat domains 2"	612808	"KIAA1246"	KIAA1246, SALM1		16495444, 16828986	Standard	NM_020737		Approved	FIGLER2	uc003oph.1	Q9ULH4	OTTHUMG00000014662	ENST00000338305.6:c.2202G>A	6.37:g.40359850C>T							p.A734A	NM_020737.1	NP_065788.1	Q9ULH4	LRFN2_HUMAN			3	2744	-	Ovarian(28;0.0418)|Colorectal(47;0.196)		734					A5PKU3|Q5SYP9	Silent	SNP	ENST00000338305.6	37	c.2202G>A	CCDS34443.1																																																																																				0.672	LRFN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040488.1	XM_166372		9	17	0	0	0	1	0	9	17					T	40359850	C	T	40359850	2	4	133	1	0	0	0	0	0	0	0	1	8938	639	23	2		2	LRFN2	6	40359850	Silent	SNP	C	TCGA-EJ-A7NN-01A-11D-A33T-08		40359850	130755217	20	6794											
COL21A1	81578	broad.mit.edu	37	chr6	55939043	55939043	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tatttaccttagatcccggtGttccaggctggcctggtgag	6	13	12	10	1	0	2	0	1	0	1	2	2	2	2	4	4	1	2	4	4	3	5			TCGA-EJ-A7NN-01A-11D-A33T-08	TCGA-EJ-A7NN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860c80f6-64b2-4089-87ee-8d64a6eba17b	c9b96788-9d99-4be5-a458-9e3d2c8755ea	g.chr6:55939043G>A	ENST00000244728.5	-	20	2349	c.1952C>T	c.(1951-1953)aCa>aTa	p.T651I	COL21A1_ENST00000467045.1_5'UTR|COL21A1_ENST00000370808.2_Missense_Mutation_p.T51I|COL21A1_ENST00000370819.1_Missense_Mutation_p.T648I|COL21A1_ENST00000535941.1_Missense_Mutation_p.T651I	NM_030820.3	NP_110447.2	Q96P44	COLA1_HUMAN	collagen, type XXI, alpha 1	651					extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				breast(1)|endometrium(1)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|prostate(2)	41	Lung NSC(77;0.0483)		LUSC - Lung squamous cell carcinoma(124;0.181)			AGATCCCGGTGTTCCAGGCTG	0.323																																						ENST00000244728.5																			0				breast(1)|endometrium(1)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|prostate(2)	41						c.(1951-1953)aCa>aTa		collagen, type XXI, alpha 1							89	87	88					6																	55939043		1810	4065	5875	SO:0001583	missense	0				cell adhesion	collagen|cytoplasm	structural molecule activity	g.chr6:55939043G>A	AF330693	CCDS55025.1	6p12.3-p11.2	2013-01-16			ENSG00000124749	ENSG00000124749		"Collagens"	17025	protein-coding gene	gene with protein product		610002				11566190	Standard	XR_241922		Approved		uc003pcs.3	Q96P44	OTTHUMG00000014907	ENST00000244728.5:c.1952C>T	6.37:g.55939043G>A	ENSP00000244728:p.Thr651Ile					COL21A1_ENST00000370808.2_Missense_Mutation_p.T51I|COL21A1_ENST00000467045.1_5'UTR|COL21A1_ENST00000535941.1_Missense_Mutation_p.T651I|COL21A1_ENST00000370819.1_Missense_Mutation_p.T648I	p.T651I	NM_030820.3	NP_110447.2	Q96P44	COLA1_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.181)		20	2349	-	Lung NSC(77;0.0483)		651			Collagen-like 3.		A6NIX5|B2R8J9|Q49A51|Q71RF4|Q8WXV8|Q9H0V3	Missense_Mutation	SNP	ENST00000244728.5	37	c.1952C>T	CCDS55025.1	.	.	.	.	.	.	.	.	.	.	G	5.537	0.284072	0.10513	.	.	ENSG00000124749	ENST00000244728;ENST00000370819;ENST00000535941;ENST00000370811;ENST00000370808	D;D;D;D	0.94280	-3.25;-3.39;-3.25;-3.25	4.56	-0.433	0.12287	.	0.361566	0.22973	N	0.053415	T	0.72078	0.3416	N	0.16903	0.455	0.19775	N	0.999959	B;B;B	0.11235	0.0;0.0;0.004	B;B;B	0.09377	0.0;0.0;0.004	T	0.65524	-0.6147	10	0.33141	T	0.24	.	7.4886	0.27447	0.4941:0.0:0.5059:0.0	.	51;651;651	Q96P44-2;B7ZLK3;Q96P44	.;.;COLA1_HUMAN	I	651;648;651;648;51	ENSP00000244728:T651I;ENSP00000359855:T648I;ENSP00000444384:T651I;ENSP00000359844:T51I	ENSP00000244728:T651I	T	-	2	0	COL21A1	56047002	0.160000	0.22878	0.153000	0.22517	0.821000	0.46438	0.201000	0.17276	-0.106000	0.12110	-0.137000	0.14449	ACA		0.323	COL21A1-001	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041004.2			17	49	0	0	0	1	0	17	49					A	55939043	G	A	55939043	3	1	133	1	0	0	0	0	1	0	0	0	3680	1377	48	3	965	3	COL21A1	6	55939043	Missense_Mutation	SNP	G	TCGA-EJ-A7NN-01A-11D-A33T-08	15579193	55939043	115176024	21	6795											
DGKI	9162	broad.mit.edu	37	chr7	137237147	137237147	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggcatggatgttctcctcttGctcttctgtaccatgttggc	4	16	10	11	0	4	0	0	0	4	0	5	1	4	1	2	3	2	5	2	3	1	5			TCGA-EJ-A7NN-01A-11D-A33T-08	TCGA-EJ-A7NN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860c80f6-64b2-4089-87ee-8d64a6eba17b	c9b96788-9d99-4be5-a458-9e3d2c8755ea	g.chr7:137237147G>T	ENST00000288490.5	-	20	2115	c.2115C>A	c.(2113-2115)agC>agA	p.S705R	DGKI_ENST00000453654.2_Missense_Mutation_p.S405R|DGKI_ENST00000446122.1_Missense_Mutation_p.S705R|DGKI_ENST00000424189.2_Missense_Mutation_p.S705R	NM_004717.2	NP_004708.1	O75912	DGKI_HUMAN	diacylglycerol kinase, iota	705					blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|positive regulation of Ras protein signal transduction (GO:0046579)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of Rap GTPase activity (GO:0032317)	cytoplasm (GO:0005737)|guanyl-nucleotide exchange factor complex (GO:0032045)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|GTPase inhibitor activity (GO:0005095)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(46)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	84						TTCTCCTCTTGCTCTTCTGTA	0.512																																						ENST00000453654.1																			0				breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(46)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	84						c.(1213-1215)agC>agA		diacylglycerol kinase, iota							178	135	149					7																	137237147		2203	4300	6503	SO:0001583	missense	9162				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding	g.chr7:137237147G>T	AF061936	CCDS5845.1	7q32.3-q33	2013-01-10			ENSG00000157680	ENSG00000157680		"Ankyrin repeat domain containing"	2855	protein-coding gene	gene with protein product		604072				9830018	Standard	NM_004717		Approved	DGK-IOTA	uc003vtt.3	O75912	OTTHUMG00000155697	ENST00000288490.5:c.2115C>A	7.37:g.137237147G>T	ENSP00000288490:p.Ser705Arg					DGKI_ENST00000288490.5_Missense_Mutation_p.S705R|DGKI_ENST00000446122.1_Missense_Mutation_p.S705R|DGKI_ENST00000424189.2_Missense_Mutation_p.S705R	p.S405R			O75912	DGKI_HUMAN			20	1754	-			705			DAGKc.		A4D1Q9|Q9NZ49	Missense_Mutation	SNP	ENST00000288490.5	37	c.1215C>A	CCDS5845.1	.	.	.	.	.	.	.	.	.	.	G	15.55	2.867850	0.51588	.	.	ENSG00000157680	ENST00000453654;ENST00000540376;ENST00000424189;ENST00000288490;ENST00000446122	T;T;T	0.34275	1.94;1.37;1.56	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	T	0.36880	0.0983	N	0.21142	0.635	0.80722	D	1	P;P	0.50943	0.904;0.94	B;P	0.51701	0.434;0.677	T	0.02498	-1.1150	10	0.10902	T	0.67	.	20.1253	0.97977	0.0:0.0:1.0:0.0	.	405;705	E9PFX6;O75912	.;DGKI_HUMAN	R	405;653;705;705;705	ENSP00000392161:S405R;ENSP00000288490:S705R;ENSP00000399131:S705R	ENSP00000288490:S705R	S	-	3	2	DGKI	136887687	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.813000	0.99286	2.832000	0.97577	0.655000	0.94253	AGC		0.512	DGKI-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341286.3	NM_004717		6	81	1	0	0.00116845	1	0.00120944	6	81					T	137237147	G	T	137237147	3	4	133	1	0	0	0	0	1	0	0	0	4471	1310	46	5	1142	5	DGKI	7	137237147	Missense_Mutation	SNP	G	TCGA-EJ-A7NN-01A-11D-A33T-08		137237147	21901516	22	6796											
OR2A5	393046	broad.mit.edu	37	chr7	143748153	143748153	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggtgctggtctcctactcgcGcatcctggcggccatcttga	4	11	12	14	3	2	1	0	1	2	0	5	1	3	1	3	4	2	2	3	4	1	2			TCGA-EJ-A7NN-01A-11D-A33T-08	TCGA-EJ-A7NN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860c80f6-64b2-4089-87ee-8d64a6eba17b	c9b96788-9d99-4be5-a458-9e3d2c8755ea	g.chr7:143748153G>A	ENST00000408906.2	+	1	693	c.659G>A	c.(658-660)cGc>cAc	p.R220H		NM_012365.1	NP_036497.1	Q96R48	OR2A5_HUMAN	olfactory receptor, family 2, subfamily A, member 5	220						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(1)|endometrium(3)|large_intestine(5)|lung(23)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	38	Melanoma(164;0.0783)					TCCTACTCGCGCATCCTGGCG	0.607																																						ENST00000408906.2																			0				cervix(1)|endometrium(3)|large_intestine(5)|lung(23)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	38						c.(658-660)cGc>cAc		olfactory receptor, family 2, subfamily A, member 5							112	113	113					7																	143748153		2023	4184	6207	SO:0001583	missense	393046				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr7:143748153G>A	U86278	CCDS43668.1	7q35	2013-09-20	2003-11-24		ENSG00000221836	ENSG00000221836		"GPCR / Class A : Olfactory receptors"	8232	protein-coding gene	gene with protein product			"olfactory receptor, family 2, subfamily A, member 5"	OR2A8, OR2A26		9500546	Standard	NM_012365		Approved	OR7-138, OR7-141	uc011ktw.2	Q96R48	OTTHUMG00000158006	ENST00000408906.2:c.659G>A	7.37:g.143748153G>A	ENSP00000386208:p.Arg220His						p.R220H	NM_012365.1	NP_036497.1	Q96R48	OR2A5_HUMAN			1	693	+	Melanoma(164;0.0783)		220					B9EGX2|O43885|O43888	Missense_Mutation	SNP	ENST00000408906.2	37	c.659G>A	CCDS43668.1	.	.	.	.	.	.	.	.	.	.	G	0.006	-2.114105	0.00349	.	.	ENSG00000221836	ENST00000408906	T	0.00107	8.72	5.37	2.58	0.30949	GPCR, rhodopsin-like superfamily (1);	0.528899	0.14160	N	0.337442	T	0.00073	0.0002	N	0.04820	-0.15	0.09310	N	1	B	0.12630	0.006	B	0.11329	0.006	T	0.21211	-1.0252	10	0.02654	T	1	.	4.2447	0.10665	0.2551:0.0:0.5845:0.1604	.	220	Q96R48	OR2A5_HUMAN	H	220	ENSP00000386208:R220H	ENSP00000386208:R220H	R	+	2	0	OR2A5	143379086	0.020000	0.18652	0.896000	0.35187	0.007000	0.05969	0.923000	0.28757	0.851000	0.35264	-0.142000	0.14014	CGC		0.607	OR2A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349986.1			4	187	0	0	0	1	0	4	187					A	143748153	G	A	143748153	3	1	133	1	0	0	0	0	1	0	0	0	10981	1087	38	1	661	1	OR2A5	7	143748153	Missense_Mutation	SNP	G	TCGA-EJ-A7NN-01A-11D-A33T-08	6511006	143748153	15390510	23	6797											
DSCC1	79075	broad.mit.edu	37	chr8	120859294	120859294	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcttcctcacttgcctgaatTtgatcaagcaaatcttcagt	10	15	5	11	0	5	2	3	2	2	0	6	2	6	2	2	0	2	1	2	0	3	4			TCGA-EJ-A7NN-01A-11D-A33T-08	TCGA-EJ-A7NN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860c80f6-64b2-4089-87ee-8d64a6eba17b	c9b96788-9d99-4be5-a458-9e3d2c8755ea	g.chr8:120859294T>C	ENST00000313655.4	-	4	727	c.513A>G	c.(511-513)caA>caG	p.Q171Q		NM_024094.2	NP_076999.2	Q9BVC3	DCC1_HUMAN	DNA replication and sister chromatid cohesion 1	171					DNA replication (GO:0006260)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|post-translational protein acetylation (GO:0034421)|regulation of DNA replication (GO:0006275)	chromatin (GO:0000785)|chromosome, centromeric region (GO:0000775)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)			NS(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(1)|pancreas(1)	9	Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			TTGCCTGAATTTGATCAAGCA	0.303																																						ENST00000313655.4																			0				NS(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(1)|pancreas(1)	9						c.(511-513)caA>caG		DNA replication and sister chromatid cohesion 1							86	81	83					8																	120859294		2203	4299	6502	SO:0001819	synonymous_variant	79075				DNA replication|maintenance of mitotic sister chromatid cohesion|post-translational protein acetylation|regulation of DNA replication	chromatin|chromosome, centromeric region|nucleoplasm	DNA binding|protein binding	g.chr8:120859294T>C		CCDS6330.1	8q24.12	2013-05-24	2013-05-24		ENSG00000136982	ENSG00000136982			24453	protein-coding gene	gene with protein product	"defective in sister chromatid cohesion homolog 1 (S. cerevisiae)"	613203	"defective in sister chromatid cohesion 1 homolog (S. cerevisiae)"			12766176, 20826785	Standard	NM_024094		Approved	DCC1, hDCC1, MGC5528	uc003yov.3	Q9BVC3	OTTHUMG00000165010	ENST00000313655.4:c.513A>G	8.37:g.120859294T>C							p.Q171Q	NM_024094.2	NP_076999.2	Q9BVC3	DCC1_HUMAN	STAD - Stomach adenocarcinoma(47;0.00185)		4	727	-	Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161)		171					Q969N5	Silent	SNP	ENST00000313655.4	37	c.513A>G	CCDS6330.1																																																																																				0.303	DSCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381443.1	NM_024094		11	37	0	0	0	1	0	11	37					C	120859294	T	C	120859294	2	2	133	1	0	0	0	0	0	0	0	1	4770	1838	64	4		4	DSCC1	8	120859294	Silent	SNP	T	TCGA-EJ-A7NN-01A-11D-A33T-08		120859294	25504728	24	6798											
SLC31A1	1317	broad.mit.edu	37	chr9	116018436	116018436	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttcctggaaaaaatggatcAttcccaccatatggggatga	13	11	9	8	0	1	1	1	1	0	0	3	4	3	4	3	4	0	0	3	4	4	3			TCGA-EJ-A7NN-01A-11D-A33T-08	TCGA-EJ-A7NN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860c80f6-64b2-4089-87ee-8d64a6eba17b	c9b96788-9d99-4be5-a458-9e3d2c8755ea	g.chr9:116018436A>T	ENST00000374212.4	+	2	160	c.8A>T	c.(7-9)cAt>cTt	p.H3L	SLC31A1_ENST00000374210.6_Missense_Mutation_p.H3L|CDC26_ENST00000490408.1_Intron	NM_001859.3	NP_001850.1	O15431	COPT1_HUMAN	solute carrier family 31 (copper transporter), member 1	3					cellular copper ion homeostasis (GO:0006878)|copper ion import (GO:0015677)|copper ion transport (GO:0006825)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	copper ion transmembrane transporter activity (GO:0005375)|copper uptake transmembrane transporter activity (GO:0015088)			breast(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)|skin(1)	7					Bortezomib(DB00188)|Carboplatin(DB00958)|Cisplatin(DB00515)|Oxaliplatin(DB00526)	AAAATGGATCATTCCCACCAT	0.383																																					Ovarian(135;1049 1799 4519 17564 28677)	ENST00000374212.4																			0				breast(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)|skin(1)	7						c.(7-9)cAt>cTt		solute carrier family 31 (copper transporter), member 1							98	83	88					9																	116018436		2203	4300	6503	SO:0001583	missense	1317					integral to plasma membrane	copper ion transmembrane transporter activity	g.chr9:116018436A>T	U83460	CCDS6789.1	9q32	2013-07-17	2013-07-17		ENSG00000136868	ENSG00000136868		"Solute carriers"	11016	protein-coding gene	gene with protein product	copper transport 1 homolog (S. cerevisiae)	603085		COPT1		9207117	Standard	NM_001859		Approved	hCTR1, CTR1	uc004bgu.3	O15431	OTTHUMG00000020519	ENST00000374212.4:c.8A>T	9.37:g.116018436A>T	ENSP00000363329:p.His3Leu					CDC26_ENST00000490408.1_Intron|SLC31A1_ENST00000374210.6_Missense_Mutation_p.H3L	p.H3L	NM_001859.3	NP_001850.1	O15431	COPT1_HUMAN			2	160	+			3					A8K8Z6|Q53GR5|Q5T1M4	Missense_Mutation	SNP	ENST00000374212.4	37	c.8A>T	CCDS6789.1	.	.	.	.	.	.	.	.	.	.	A	17.42	3.384677	0.61845	.	.	ENSG00000136868	ENST00000374212;ENST00000374210	T;T	0.70516	-0.24;-0.49	6.04	3.54	0.40534	.	0.814417	0.11271	N	0.581493	T	0.65657	0.2712	L	0.52573	1.65	0.09310	N	0.999999	B;B	0.26002	0.139;0.005	B;B	0.25140	0.058;0.015	T	0.59904	-0.7366	10	0.87932	D	0	-7.9244	10.9009	0.47051	0.6723:0.3277:0.0:0.0	.	3;3	Q5T1M3;O15431	.;COPT1_HUMAN	L	3	ENSP00000363329:H3L;ENSP00000363327:H3L	ENSP00000363327:H3L	H	+	2	0	SLC31A1	115058257	0.000000	0.05858	0.509000	0.27700	0.891000	0.51852	0.265000	0.18515	1.089000	0.41292	0.460000	0.39030	CAT		0.383	SLC31A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053715.1	NM_001859		21	54	0	0	0	1	0	21	54					T	116018436	A	T	116018436	3	4	133	1	0	0	0	0	1	0	0	0	14563	217	8	5	10	5	SLC31A1	9	116018436	Missense_Mutation	SNP	A	TCGA-EJ-A7NN-01A-11D-A33T-08		116018436	25194995	25	6799											
ITIH2	3698	broad.mit.edu	37	chr10	7759621	7759621	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgatatggaaaacttcagaaCggaagtaaatgtcctcccag	15	9	9	8	1	1	2	1	1	0	1	3	4	3	4	2	2	2	1	2	2	7	3	rs199888149		TCGA-EJ-A7NN-01A-11D-A33T-08	TCGA-EJ-A7NN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860c80f6-64b2-4089-87ee-8d64a6eba17b	c9b96788-9d99-4be5-a458-9e3d2c8755ea	g.chr10:7759621C>T	ENST00000358415.4	+	6	666	c.500C>T	c.(499-501)aCg>aTg	p.T167M	ITIH2_ENST00000480387.1_3'UTR|ITIH2_ENST00000379587.4_Missense_Mutation_p.T156M	NM_002216.2	NP_002207.2	P19823	ITIH2_HUMAN	inter-alpha-trypsin inhibitor heavy chain 2	167	VIT. {ECO:0000255|PROSITE- ProRule:PRU00801}.				hyaluronan metabolic process (GO:0030212)|negative regulation of endopeptidase activity (GO:0010951)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)			NS(2)|breast(1)|endometrium(8)|kidney(1)|large_intestine(17)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						AACTTCAGAACGGAAGTAAAT	0.488																																						ENST00000358415.4																			0				NS(2)|breast(1)|endometrium(8)|kidney(1)|large_intestine(17)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						c.(499-501)aCg>aTg		inter-alpha-trypsin inhibitor heavy chain 2							164	170	168					10																	7759621		2203	4300	6503	SO:0001583	missense	3698				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	g.chr10:7759621C>T	X07173	CCDS31141.1	10p14	2011-10-26	2011-10-26		ENSG00000151655	ENSG00000151655			6167	protein-coding gene	gene with protein product		146640	"inter-alpha (globulin) inhibitor, H2 polypeptide"			1385302, 10100603	Standard	NM_002216		Approved	H2P	uc001ijs.3	P19823	OTTHUMG00000017633	ENST00000358415.4:c.500C>T	10.37:g.7759621C>T	ENSP00000351190:p.Thr167Met					ITIH2_ENST00000480387.1_3'UTR|ITIH2_ENST00000379587.4_Missense_Mutation_p.T156M	p.T167M	NM_002216.2	NP_002207.2	P19823	ITIH2_HUMAN			6	666	+			167			VIT.		Q14659|Q15484|Q5T986	Missense_Mutation	SNP	ENST00000358415.4	37	c.500C>T	CCDS31141.1	.	.	.	.	.	.	.	.	.	.	C	15.37	2.814287	0.50527	.	.	ENSG00000151655	ENST00000358415;ENST00000429820;ENST00000379587	T;T;T	0.24151	1.87;1.87;1.87	5.34	4.43	0.53597	Vault protein inter-alpha-trypsin (2);Vault protein inter-alpha-trypsin, metazoa (1);	0.049080	0.85682	D	0.000000	T	0.49115	0.1538	M	0.75447	2.3	0.53005	D	0.999961	D	0.76494	0.999	D	0.67548	0.952	T	0.53092	-0.8487	10	0.72032	D	0.01	-25.9385	14.3936	0.66996	0.0:0.9275:0.0:0.0725	.	167	P19823	ITIH2_HUMAN	M	167;142;156	ENSP00000351190:T167M;ENSP00000388826:T142M;ENSP00000368906:T156M	ENSP00000351190:T167M	T	+	2	0	ITIH2	7799627	0.960000	0.32886	0.943000	0.38184	0.037000	0.13140	2.233000	0.43027	2.484000	0.83849	0.563000	0.77884	ACG		0.488	ITIH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046678.2	NM_002216		9	206	0	0	0	1	0	9	206					T	7759621	C	T	7759621	3	4	133	1	0	0	0	0	1	0	0	0	7904	536	19	1	522	1	ITIH2	10	7759621	Missense_Mutation	SNP	C	TCGA-EJ-A7NN-01A-11D-A33T-08		7759621	127775126	26	6800											
ZNF33B	7582	broad.mit.edu	37	chr10	43088188	43088188	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tatgtgatctctgatgtttaGcaaggtctgatttacggtaa	10	16	10	5	1	2	3	0	3	2	0	3	3	2	3	0	2	2	3	0	2	5	6	rs573343671		TCGA-EJ-A7NN-01A-11D-A33T-08	TCGA-EJ-A7NN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860c80f6-64b2-4089-87ee-8d64a6eba17b	c9b96788-9d99-4be5-a458-9e3d2c8755ea	g.chr10:43088188G>T	ENST00000359467.3	-	5	2324	c.2210C>A	c.(2209-2211)gCt>gAt	p.A737D	ZNF33B_ENST00000486187.1_RNA	NM_006955.1	NP_008886.1	Q06732	ZN33B_HUMAN	zinc finger protein 33B	737					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(15)|skin(1)|stomach(1)	29						CTGATGTTTAGCAAGGTCTGA	0.393																																					Melanoma(137;1247 1767 16772 25727 43810)	ENST00000359467.3																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(15)|skin(1)|stomach(1)	29						c.(2209-2211)gCt>gAt		zinc finger protein 33B							158	153	155					10																	43088188		2203	4300	6503	SO:0001583	missense	7582					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr10:43088188G>T	X68688, AJ491697	CCDS7198.1	10q11.2	2013-01-08	2005-03-18		ENSG00000196693	ENSG00000196693		"Zinc fingers, C2H2-type", "-"	13097	protein-coding gene	gene with protein product		194522	"zinc finger protein 33b (KOX 31)", "zinc finger protein 11B"	ZNF11B		2014798	Standard	NM_006955		Approved	KOX31, KOX2	uc001jaf.1	Q06732	OTTHUMG00000018014	ENST00000359467.3:c.2210C>A	10.37:g.43088188G>T	ENSP00000352444:p.Ala737Asp					ZNF33B_ENST00000486187.1_RNA	p.A737D	NM_006955.1	NP_008886.1	Q06732	ZN33B_HUMAN			5	2324	-			737					Q06731|Q32MA2|Q86XY8|Q8NDW3	Missense_Mutation	SNP	ENST00000359467.3	37	c.2210C>A	CCDS7198.1	.	.	.	.	.	.	.	.	.	.	G	11.12	1.543958	0.27563	.	.	ENSG00000196693	ENST00000359467;ENST00000395836	T	0.29917	1.55	2.64	1.72	0.24424	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.240647	0.21632	N	0.071478	T	0.23410	0.0566	L	0.28740	0.885	0.23411	N	0.99774	P	0.39717	0.684	B	0.43413	0.419	T	0.07908	-1.0748	10	0.36615	T	0.2	.	7.8829	0.29633	0.1342:0.0:0.8658:0.0	.	737	Q06732	ZN33B_HUMAN	D	737;703	ENSP00000352444:A737D	ENSP00000352444:A737D	A	-	2	0	ZNF33B	42408194	0.000000	0.05858	1.000000	0.80357	0.979000	0.70002	-1.114000	0.03293	0.681000	0.31386	0.409000	0.27619	GCT		0.393	ZNF33B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_006955		41	99	1	0	9.73076e-26	1	1.06318e-25	41	99					T	43088188	G	T	43088188	3	4	133	1	0	0	0	0	1	0	0	0	17852	971	34	5	130	5	ZNF33B	10	43088188	Missense_Mutation	SNP	G	TCGA-EJ-A7NN-01A-11D-A33T-08	35328567	43088188	92446559	27	6801											
ITPRIP	85450	broad.mit.edu	37	chr10	106074846	106074846	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cagctggccaaaggccaggtCgaactcgtacttgtgggcga	9	7	14	11	3	0	0	0	0	0	0	2	2	0	0	2	4	3	2	2	4	3	2			TCGA-EJ-A7NN-01A-11D-A33T-08	TCGA-EJ-A7NN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860c80f6-64b2-4089-87ee-8d64a6eba17b	c9b96788-9d99-4be5-a458-9e3d2c8755ea	g.chr10:106074846C>T	ENST00000337478.1	-	2	1135	c.964G>A	c.(964-966)Gac>Aac	p.D322N	RP11-127L20.5_ENST00000472915.2_RNA|ITPRIP_ENST00000358187.2_Missense_Mutation_p.D322N|ITPRIP_ENST00000278071.2_Missense_Mutation_p.D322N	NM_001272013.1	NP_001258942.1	Q8IWB1	IPRI_HUMAN	inositol 1,4,5-trisphosphate receptor interacting protein	322						membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(1)|endometrium(3)|large_intestine(5)|liver(1)|lung(9)|upper_aerodigestive_tract(1)	20						AAGGCCAGGTCGAACTCGTAC	0.572																																						ENST00000278071.2																			0				breast(1)|endometrium(3)|large_intestine(5)|liver(1)|lung(9)|upper_aerodigestive_tract(1)	20						c.(964-966)Gac>Aac		inositol 1,4,5-trisphosphate receptor interacting protein							81	78	79					10																	106074846		2203	4300	6503	SO:0001583	missense	85450					plasma membrane		g.chr10:106074846C>T	AB051541	CCDS7557.1	10q25.1	2011-04-28	2011-04-28	2008-08-11	ENSG00000148841	ENSG00000148841			29370	protein-coding gene	gene with protein product			"KIAA1754", "inositol 1,4,5-triphosphate receptor interacting protein"	KIAA1754		11214970, 16990268	Standard	NM_001272012		Approved	bA127L20.2, DANGER	uc001kye.4	Q8IWB1	OTTHUMG00000019003	ENST00000337478.1:c.964G>A	10.37:g.106074846C>T	ENSP00000337178:p.Asp322Asn					ITPRIP_ENST00000337478.1_Missense_Mutation_p.D322N|ITPRIP_ENST00000358187.2_Missense_Mutation_p.D322N	p.D322N	NM_033397.2	NP_203755.1	Q8IWB1	IPRI_HUMAN			3	1416	-			322					D3DRA5|Q5JU17|Q96MS8|Q9C0A9	Missense_Mutation	SNP	ENST00000337478.1	37	c.964G>A	CCDS7557.1	.	.	.	.	.	.	.	.	.	.	C	19.88	3.909338	0.72868	.	.	ENSG00000148841	ENST00000337478;ENST00000278071;ENST00000358187	T;T;T	0.23754	1.89;1.89;1.89	5.09	5.09	0.68999	.	0.100221	0.64402	D	0.000002	T	0.46034	0.1372	M	0.70595	2.14	0.35607	D	0.808324	D	0.76494	0.999	P	0.62298	0.9	T	0.57505	-0.7800	10	0.51188	T	0.08	-33.5906	13.2165	0.59863	0.0:0.9231:0.0:0.0769	.	322	Q8IWB1	IPRI_HUMAN	N	322	ENSP00000337178:D322N;ENSP00000278071:D322N;ENSP00000350915:D322N	ENSP00000278071:D322N	D	-	1	0	ITPRIP	106064836	1.000000	0.71417	0.999000	0.59377	0.970000	0.65996	3.992000	0.56980	2.517000	0.84864	0.462000	0.41574	GAC		0.572	ITPRIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050204.1	NM_033397		25	61	0	0	0	1	0	25	61					T	106074846	C	T	106074846	3	4	133	1	0	0	0	0	1	0	0	0	7923	884	31	2	683	2	ITPRIP	10	106074846	Missense_Mutation	SNP	C	TCGA-EJ-A7NN-01A-11D-A33T-08	62986658	106074846	29459901	28	6802											
IRF7	3665	broad.mit.edu	37	chr11	614247	614247	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ttggttgggactggatctgcCccccatgacgctgtcagcag	6	10	13	12	1	2	1	1	1	1	0	2	3	2	3	3	3	2	3	3	3	0	2			TCGA-EJ-A7NN-01A-11D-A33T-08	TCGA-EJ-A7NN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860c80f6-64b2-4089-87ee-8d64a6eba17b	c9b96788-9d99-4be5-a458-9e3d2c8755ea	g.chr11:614247C>T	ENST00000397574.2	-	6	975	c.606G>A	c.(604-606)ggG>ggA	p.G202G	IRF7_ENST00000525445.1_Silent_p.G96G|IRF7_ENST00000397570.1_Silent_p.G202G|IRF7_ENST00000397562.3_Intron|IRF7_ENST00000330243.5_Silent_p.G215G|IRF7_ENST00000348655.6_Silent_p.G202G|IRF7_ENST00000397566.1_Silent_p.G215G	NM_001572.3	NP_001563.2	Q92985	IRF7_HUMAN	interferon regulatory factor 7	202					cellular response to DNA damage stimulus (GO:0006974)|cytokine-mediated signaling pathway (GO:0019221)|establishment of viral latency (GO:0019043)|immunoglobulin mediated immune response (GO:0016064)|innate immune response (GO:0045087)|interferon-alpha production (GO:0032607)|interferon-beta production (GO:0032608)|interferon-gamma-mediated signaling pathway (GO:0060333)|MDA-5 signaling pathway (GO:0039530)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of macrophage apoptotic process (GO:2000110)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340)|regulation of adaptive immune response (GO:0002819)|regulation of immune response (GO:0050776)|regulation of monocyte differentiation (GO:0045655)|regulation of MyD88-dependent toll-like receptor signaling pathway (GO:0034124)|regulation of MyD88-independent toll-like receptor signaling pathway (GO:0034127)|regulation of type I interferon production (GO:0032479)|response to virus (GO:0009615)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|transcription from RNA polymerase II promoter (GO:0006366)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|type I interferon biosynthetic process (GO:0045351)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome membrane (GO:0010008)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity (GO:0000982)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)			endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8		all_cancers(49;1.69e-08)|all_epithelial(84;1.65e-05)|Breast(177;0.000231)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)		all cancers(45;7.68e-28)|Epithelial(43;7.44e-27)|OV - Ovarian serous cystadenocarcinoma(40;3.53e-21)|BRCA - Breast invasive adenocarcinoma(625;6.96e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CTGGATCTGCCCCCCATGACG	0.677																																						ENST00000397566.1																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8						c.(643-645)ggG>ggA		interferon regulatory factor 7							43	42	43					11																	614247		2200	4299	6499	SO:0001819	synonymous_variant	3665				interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of interferon-alpha production|positive regulation of transcription from RNA polymerase II promoter|response to virus|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	cytosol|endosome membrane|nucleoplasm|plasma membrane	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr11:614247C>T	U53830	CCDS7703.1, CCDS7704.1, CCDS7705.1	11p15.5	2005-10-10			ENSG00000185507	ENSG00000185507			6122	protein-coding gene	gene with protein product		605047					Standard	XM_005252906		Approved		uc001lqh.3	Q92985	OTTHUMG00000132019	ENST00000397574.2:c.606G>A	11.37:g.614247C>T						IRF7_ENST00000348655.6_Silent_p.G202G|IRF7_ENST00000330243.5_Silent_p.G215G|IRF7_ENST00000397570.1_Silent_p.G202G|IRF7_ENST00000397562.3_Intron|IRF7_ENST00000397574.2_Silent_p.G202G|IRF7_ENST00000525445.1_Silent_p.G96G	p.G215G	NM_004031.2	NP_004022.2	Q92985	IRF7_HUMAN		all cancers(45;7.68e-28)|Epithelial(43;7.44e-27)|OV - Ovarian serous cystadenocarcinoma(40;3.53e-21)|BRCA - Breast invasive adenocarcinoma(625;6.96e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)	4	1054	-		all_cancers(49;1.69e-08)|all_epithelial(84;1.65e-05)|Breast(177;0.000231)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)	202					B9EGL3|O00331|O00332|O00333|O75924|Q9UE79	Silent	SNP	ENST00000397574.2	37	c.645G>A	CCDS7703.1																																																																																				0.677	IRF7-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000255026.1	NM_001572		3	13	0	0	0	1	0	3	13					T	614247	C	T	614247	2	4	133	1	0	0	0	0	0	0	0	1	7835	610	22	3		3	IRF7	11	614247	Silent	SNP	C	TCGA-EJ-A7NN-01A-11D-A33T-08		614247	134392269	29	6803											
OR51Q1	390061	broad.mit.edu	37	chr11	5444143	5444143	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacctgggctgagcgactccGtgccctcaataactgcctgt	7	9	10	15	2	1	1	1	1	0	0	2	2	2	1	4	1	4	1	4	1	2	1			TCGA-EJ-A7NN-01A-11D-A33T-08	TCGA-EJ-A7NN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860c80f6-64b2-4089-87ee-8d64a6eba17b	c9b96788-9d99-4be5-a458-9e3d2c8755ea	g.chr11:5444143G>A	ENST00000300778.4	+	1	803	c.713G>A	c.(712-714)cGt>cAt	p.R238H	AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380252.1_Intron|HBG2_ENST00000380259.2_Intron|HBE1_ENST00000380237.1_Intron	NM_001004757.2	NP_001004757.1	Q8NH59	O51Q1_HUMAN	olfactory receptor, family 51, subfamily Q, member 1 (gene/pseudogene)	238						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R238H(1)		endometrium(3)|kidney(2)|large_intestine(3)|liver(2)|lung(21)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	37		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;2.18e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GAGCGACTCCGTGCCCTCAAT	0.488																																						ENST00000300778.4																			1	Substitution - Missense(1)	p.R238H(1)	endometrium(1)	endometrium(3)|kidney(2)|large_intestine(3)|liver(2)|lung(21)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	37						c.(712-714)cGt>cAt		olfactory receptor, family 51, subfamily Q, member 1 (gene/pseudogene)							135	112	120					11																	5444143		2201	4297	6498	SO:0001583	missense	390061				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5444143G>A	AB065531	CCDS31381.1	11p15.4	2013-10-10	2013-10-10		ENSG00000167360	ENSG00000167360		"GPCR / Class A : Olfactory receptors"	14851	protein-coding gene	gene with protein product			"olfactory receptor, family 51, subfamily Q, member 1"				Standard	NM_001004757		Approved		uc010qzd.2	Q8NH59	OTTHUMG00000066896	ENST00000300778.4:c.713G>A	11.37:g.5444143G>A	ENSP00000300778:p.Arg238His					HBG2_ENST00000380259.2_Intron|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron|AC104389.28_ENST00000415970.1_RNA	p.R238H	NM_001004757.2	NP_001004757.1	Q8NH59	O51Q1_HUMAN		Epithelial(150;2.18e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	803	+		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)	238					B2RNN1	Missense_Mutation	SNP	ENST00000300778.4	37	c.713G>A	CCDS31381.1	.	.	.	.	.	.	.	.	.	.	G	12.45	1.940677	0.34283	.	.	ENSG00000167360	ENST00000300778	T	0.00188	8.59	5.0	0.992	0.19819	GPCR, rhodopsin-like superfamily (1);	0.139312	0.33854	N	0.004499	T	0.00300	0.0009	M	0.67397	2.05	0.09310	N	1	D	0.63046	0.992	P	0.54312	0.748	T	0.47129	-0.9141	10	0.87932	D	0	.	8.5457	0.33419	0.3939:0.0:0.6061:0.0	.	238	Q8NH59	O51Q1_HUMAN	H	238	ENSP00000300778:R238H	ENSP00000300778:R238H	R	+	2	0	OR51Q1	5400719	0.013000	0.17824	0.000000	0.03702	0.134000	0.20937	1.256000	0.32921	0.332000	0.23536	0.380000	0.24917	CGT		0.488	OR51Q1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143373.1	NM_001004757		25	63	0	0	0	1	0	25	63					A	5444143	G	A	5444143	3	1	133	1	0	0	0	0	1	0	0	0	11104	1145	40	1	715	1	OR51Q1	11	5444143	Missense_Mutation	SNP	G	TCGA-EJ-A7NN-01A-11D-A33T-08	4829896	5444143	129562373	30	6804											
MRGPRX3	117195	broad.mit.edu	37	chr11	18159128	18159128	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gctgcctgtccatcctgtggCccatctggtaccactgccgc	4	10	10	17	1	1	0	0	0	1	0	3	0	3	0	6	2	3	2	6	2	1	1			TCGA-EJ-A7NN-01A-11D-A33T-08	TCGA-EJ-A7NN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860c80f6-64b2-4089-87ee-8d64a6eba17b	c9b96788-9d99-4be5-a458-9e3d2c8755ea	g.chr11:18159128C>G	ENST00000396275.2	+	3	740	c.379C>G	c.(379-381)Ccc>Gcc	p.P127A		NM_054031.3	NP_473372.3	Q96LB0	MRGX3_HUMAN	MAS-related GPR, member X3	127						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27						CATCCTGTGGCCCATCTGGTA	0.572																																						ENST00000396275.2																			0				NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27						c.(379-381)Ccc>Gcc		MAS-related GPR, member X3							122	114	117					11																	18159128		2200	4293	6493	SO:0001583	missense	117195					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr11:18159128C>G		CCDS7830.1	11p15.1	2013-10-10			ENSG00000179826	ENSG00000179826		"GPCR / Class A : Orphans"	17980	protein-coding gene	gene with protein product		607229				11551509	Standard	NM_054031		Approved	MRGX3	uc001mnu.3	Q96LB0	OTTHUMG00000166435	ENST00000396275.2:c.379C>G	11.37:g.18159128C>G	ENSP00000379571:p.Pro127Ala						p.P127A	NM_054031.3	NP_473372.3	Q96LB0	MRGX3_HUMAN			3	740	+			127					B0M0L1|Q8TDE0|Q8TDE1	Missense_Mutation	SNP	ENST00000396275.2	37	c.379C>G	CCDS7830.1	.	.	.	.	.	.	.	.	.	.	C	14.19	2.461289	0.43736	.	.	ENSG00000179826	ENST00000396275;ENST00000531264	T;T	0.60424	0.19;0.19	1.46	0.49	0.16861	GPCR, rhodopsin-like superfamily (1);	0.090649	0.48767	D	0.000162	T	0.78349	0.4269	H	0.95816	3.725	0.24607	N	0.993749	D	0.89917	1.0	D	0.87578	0.998	T	0.67542	-0.5644	10	0.87932	D	0	.	6.8887	0.24216	0.2756:0.7244:0.0:0.0	.	127	Q96LB0	MRGX3_HUMAN	A	127	ENSP00000379571:P127A;ENSP00000436242:P127A	ENSP00000379571:P127A	P	+	1	0	MRGPRX3	18115704	0.132000	0.22450	0.854000	0.33618	0.204000	0.24138	1.909000	0.39917	0.175000	0.19841	-0.511000	0.04467	CCC		0.572	MRGPRX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389767.1	NM_054031		6	138	0	0	0	1	0	6	138					G	18159128	C	G	18159128	3	3	133	1	0	0	0	0	1	0	0	0	9768	739	26	5	381	5	MRGPRX3	11	18159128	Missense_Mutation	SNP	C	TCGA-EJ-A7NN-01A-11D-A33T-08	12714985	18159128	116847388	31	6805											
OR5M3	219482	broad.mit.edu	37	chr11	56237552	56237552	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgtaagggaaagtaatcagtCgaatacagacaacccttgac	16	8	9	8	1	1	2	1	1	0	1	2	4	1	3	1	1	2	2	1	1	6	4	rs571368907		TCGA-EJ-A7NN-01A-11D-A33T-08	TCGA-EJ-A7NN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860c80f6-64b2-4089-87ee-8d64a6eba17b	c9b96788-9d99-4be5-a458-9e3d2c8755ea	g.chr11:56237552C>T	ENST00000312240.2	-	1	462	c.422G>A	c.(421-423)cGa>cAa	p.R141Q		NM_001004742.2	NP_001004742.2	Q8NGP4	OR5M3_HUMAN	olfactory receptor, family 5, subfamily M, member 3	141						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(15)|ovary(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	37	Esophageal squamous(21;0.00448)					AGTAATCAGTCGAATACAGAC	0.398																																						ENST00000312240.2																			0				NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(15)|ovary(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	37						c.(421-423)cGa>cAa		olfactory receptor, family 5, subfamily M, member 3							101	93	96					11																	56237552		2201	4295	6496	SO:0001583	missense	219482				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56237552C>T	AB065746	CCDS31532.1	11q11	2012-08-09			ENSG00000174937	ENSG00000174937		"GPCR / Class A : Olfactory receptors"	14806	protein-coding gene	gene with protein product							Standard	NM_001004742		Approved		uc010rjk.2	Q8NGP4	OTTHUMG00000166875	ENST00000312240.2:c.422G>A	11.37:g.56237552C>T	ENSP00000312208:p.Arg141Gln						p.R141Q	NM_001004742.2	NP_001004742.2	Q8NGP4	OR5M3_HUMAN			1	462	-	Esophageal squamous(21;0.00448)		141					B2RNM7|Q6IEW4|Q96RC0	Missense_Mutation	SNP	ENST00000312240.2	37	c.422G>A	CCDS31532.1	.	.	.	.	.	.	.	.	.	.	C	0.206	-1.040553	0.02013	.	.	ENSG00000174937	ENST00000312240	T	0.00076	8.76	5.13	0.706	0.18133	GPCR, rhodopsin-like superfamily (1);	0.195954	0.25447	N	0.030606	T	0.00039	0.0001	N	0.02854	-0.475	0.09310	N	1	B	0.10296	0.003	B	0.13407	0.009	T	0.12708	-1.0537	10	0.21014	T	0.42	-0.7539	1.9836	0.03432	0.2762:0.4307:0.1345:0.1586	.	141	Q8NGP4	OR5M3_HUMAN	Q	141	ENSP00000312208:R141Q	ENSP00000312208:R141Q	R	-	2	0	OR5M3	55994128	0.000000	0.05858	0.012000	0.15200	0.567000	0.35839	-3.076000	0.00616	0.152000	0.19188	0.478000	0.44815	CGA		0.398	OR5M3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391639.1	NM_001004742		43	93	0	0	0	1	0	43	93					T	56237552	C	T	56237552	3	4	133	1	0	0	0	0	1	0	0	0	11175	884	31	2	503	2	OR5M3	11	56237552	Missense_Mutation	SNP	C	TCGA-EJ-A7NN-01A-11D-A33T-08	38078424	56237552	78768964	32	6806											
GAL3ST3	89792	broad.mit.edu	37	chr11	65810901	65810901	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgcaggtggctggccagcaCgtgcggcggccgcgtggccg	3	4	20	14	7	0	0	0	0	0	0	0	0	0	0	3	6	2	3	3	6	0	0			TCGA-EJ-A7NN-01A-11D-A33T-08	TCGA-EJ-A7NN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860c80f6-64b2-4089-87ee-8d64a6eba17b	c9b96788-9d99-4be5-a458-9e3d2c8755ea	g.chr11:65810901C>T	ENST00000312006.4	-	3	654	c.373G>A	c.(373-375)Gtg>Atg	p.V125M	GAL3ST3_ENST00000527878.1_Missense_Mutation_p.V125M	NM_033036.2	NP_149025.1	Q96A11	G3ST3_HUMAN	galactose-3-O-sulfotransferase 3	125					monosaccharide metabolic process (GO:0005996)|oligosaccharide metabolic process (GO:0009311)|poly-N-acetyllactosamine metabolic process (GO:0030309)|proteoglycan biosynthetic process (GO:0030166)|sulfur compound metabolic process (GO:0006790)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	3'-phosphoadenosine 5'-phosphosulfate binding (GO:0050656)|carbohydrate binding (GO:0030246)|galactose 3-O-sulfotransferase activity (GO:0050694)|galactosylceramide sulfotransferase activity (GO:0001733)|proteoglycan sulfotransferase activity (GO:0050698)			kidney(1)|lung(9)|ovary(2)|skin(2)	14						CTGGCCAGCACGTGCGGCGGC	0.711																																						ENST00000312006.4																			0				kidney(1)|lung(9)|ovary(2)|skin(2)	14						c.(373-375)Gtg>Atg		galactose-3-O-sulfotransferase 3							13	16	15					11																	65810901		2185	4258	6443	SO:0001583	missense	89792				monosaccharide metabolic process|oligosaccharide metabolic process|poly-N-acetyllactosamine metabolic process|proteoglycan biosynthetic process|sulfur compound metabolic process	Golgi cisterna membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate binding|carbohydrate binding|galactosylceramide sulfotransferase activity|proteoglycan sulfotransferase activity	g.chr11:65810901C>T	AY026481	CCDS8128.1	11q13.1	2014-08-12			ENSG00000175229	ENSG00000175229		"Sulfotransferases, membrane-bound"	24144	protein-coding gene	gene with protein product		608234				11323440, 11356829	Standard	NM_033036		Approved	GAL3ST2	uc001ogw.3	Q96A11	OTTHUMG00000166667	ENST00000312006.4:c.373G>A	11.37:g.65810901C>T	ENSP00000308591:p.Val125Met					GAL3ST3_ENST00000527878.1_Missense_Mutation_p.V125M	p.V125M	NM_033036.2	NP_149025.1	Q96A11	G3ST3_HUMAN			3	654	-			125					Q14D05	Missense_Mutation	SNP	ENST00000312006.4	37	c.373G>A	CCDS8128.1	.	.	.	.	.	.	.	.	.	.	C	12.56	1.974393	0.34848	.	.	ENSG00000175229	ENST00000312006;ENST00000527878	T;T	0.18810	2.19;2.19	4.62	-0.287	0.12858	.	0.513086	0.18906	N	0.127917	T	0.11922	0.0290	N	0.21282	0.65	0.26327	N	0.977578	B	0.11235	0.004	B	0.09377	0.004	T	0.22034	-1.0228	10	0.33940	T	0.23	-15.9552	8.9044	0.35515	0.0:0.5704:0.0:0.4296	.	125	Q96A11	G3ST3_HUMAN	M	125	ENSP00000308591:V125M;ENSP00000434829:V125M	ENSP00000308591:V125M	V	-	1	0	GAL3ST3	65567477	0.391000	0.25221	0.994000	0.49952	0.989000	0.77384	-0.283000	0.08433	-0.007000	0.14345	0.561000	0.74099	GTG		0.711	GAL3ST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391052.1	NM_033036		8	13	0	0	0	1	0	8	13					T	65810901	C	T	65810901	3	4	133	1	0	0	0	0	1	0	0	0	6199	536	19	1	926	1	GAL3ST3	11	65810901	Missense_Mutation	SNP	C	TCGA-EJ-A7NN-01A-11D-A33T-08	9573349	65810901	69195615	33	6807											
DDI1	414301	broad.mit.edu	37	chr11	103908337	103908337	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggcttttgttgactcgggcGcccagatgaccattatgagc	8	11	12	10	2	0	4	0	3	0	1	1	4	0	4	2	2	1	2	2	2	1	4	rs114046986		TCGA-EJ-A7NN-01A-11D-A33T-08	TCGA-EJ-A7NN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860c80f6-64b2-4089-87ee-8d64a6eba17b	c9b96788-9d99-4be5-a458-9e3d2c8755ea	g.chr11:103908337G>A	ENST00000302259.3	+	1	1030	c.787G>A	c.(787-789)Gcc>Acc	p.A263T	PDGFD_ENST00000302251.5_Intron|PDGFD_ENST00000393158.2_Intron	NM_001001711.2	NP_001001711.1	Q8WTU0	DDI1_HUMAN	DNA-damage inducible 1 homolog 1 (S. cerevisiae)	263							aspartic-type endopeptidase activity (GO:0004190)			central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(12)|liver(2)|lung(21)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00648)|Melanoma(852;0.055)|all_neural(303;0.164)		BRCA - Breast invasive adenocarcinoma(274;0.00128)|Epithelial(105;0.0631)|all cancers(92;0.169)		TGACTCGGGCGCCCAGATGAC	0.537																																						ENST00000302259.3																			0				central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(12)|liver(2)|lung(21)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						c.(787-789)Gcc>Acc		DNA-damage inducible 1 homolog 1 (S. cerevisiae)							92	95	94					11																	103908337		2202	4299	6501	SO:0001583	missense	414301				proteolysis		aspartic-type endopeptidase activity	g.chr11:103908337G>A		CCDS31660.1	11q22.3	2010-05-04	2010-05-04			ENSG00000170967			18961	protein-coding gene	gene with protein product			"DDI1, DNA-damage inducible 1, homolog 1 (S. cerevisiae)"				Standard	NM_001001711		Approved	FLJ36017	uc001phr.2	Q8WTU0		ENST00000302259.3:c.787G>A	11.37:g.103908337G>A	ENSP00000302805:p.Ala263Thr					PDGFD_ENST00000302251.5_Intron|PDGFD_ENST00000393158.2_Intron	p.A263T	NM_001001711.2	NP_001001711.1	Q8WTU0	DDI1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.00128)|Epithelial(105;0.0631)|all cancers(92;0.169)	1	1030	+		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00648)|Melanoma(852;0.055)|all_neural(303;0.164)	263					Q7Z4U6|Q8WTS3	Missense_Mutation	SNP	ENST00000302259.3	37	c.787G>A	CCDS31660.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	24.7	4.562100	0.86335	.	.	ENSG00000170967	ENST00000302259	T	0.70869	-0.52	5.21	5.21	0.72293	Peptidase aspartic (1);Peptidase aspartic, eukaryotic predicted (1);Peptidase aspartic, catalytic (1);	0.000000	0.85682	D	0.000000	D	0.88134	0.6355	M	0.94101	3.495	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	D	0.90538	0.4500	10	0.87932	D	0	-25.1598	16.6709	0.85266	0.0:0.0:1.0:0.0	.	263	Q8WTU0	DDI1_HUMAN	T	263	ENSP00000302805:A263T	ENSP00000302805:A263T	A	+	1	0	DDI1	103413547	1.000000	0.71417	1.000000	0.80357	0.551000	0.35334	8.821000	0.92009	2.884000	0.98904	0.655000	0.94253	GCC		0.537	DDI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387326.1	NM_001001711		50	69	0	0	0	1	0	50	69					A	103908337	G	A	103908337	3	1	133	1	0	0	0	0	1	0	0	0	4328	1087	38	1	789	1	DDI1	11	103908337	Missense_Mutation	SNP	G	TCGA-EJ-A7NN-01A-11D-A33T-08	38097436	103908337	31098179	34	6808											
TECTA	7007	broad.mit.edu	37	chr11	121028755	121028755	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cttcgacggcgccttcctgcGcttcccagccaactgcgcct	4	9	9	19	5	0	0	0	0	0	0	3	1	2	0	5	1	4	1	5	1	1	3			TCGA-EJ-A7NN-01A-11D-A33T-08	TCGA-EJ-A7NN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860c80f6-64b2-4089-87ee-8d64a6eba17b	c9b96788-9d99-4be5-a458-9e3d2c8755ea	g.chr11:121028755G>A	ENST00000392793.1	+	14	4782	c.4511G>A	c.(4510-4512)cGc>cAc	p.R1504H	TECTA_ENST00000264037.2_Missense_Mutation_p.R1504H			O75443	TECTA_HUMAN	tectorin alpha	1504	VWFD 4. {ECO:0000255|PROSITE- ProRule:PRU00580}.				cell-matrix adhesion (GO:0007160)|sensory perception of sound (GO:0007605)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		GCCTTCCTGCGCTTCCCAGCC	0.657																																						ENST00000392793.1																		TECTA/TBCEL(2)	0				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135						c.(4510-4512)cGc>cAc		tectorin alpha							64	49	54					11																	121028755		2203	4299	6502	SO:0001583	missense	7007				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix		g.chr11:121028755G>A	AF055136	CCDS8434.1	11q22-q24	2008-02-05			ENSG00000109927	ENSG00000109927			11720	protein-coding gene	gene with protein product		602574		DFNA12, DFNA8, DFNB21		9503015, 9590290	Standard	NM_005422		Approved		uc010rzo.2	O75443	OTTHUMG00000149908	ENST00000392793.1:c.4511G>A	11.37:g.121028755G>A	ENSP00000376543:p.Arg1504His					TECTA_ENST00000264037.2_Missense_Mutation_p.R1504H	p.R1504H			O75443	TECTA_HUMAN		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)	14	4782	+	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)	1504			VWFD 4.			Missense_Mutation	SNP	ENST00000392793.1	37	c.4511G>A	CCDS8434.1	.	.	.	.	.	.	.	.	.	.	G	17.86	3.492781	0.64074	.	.	ENSG00000109927	ENST00000392793;ENST00000264037	T;T	0.59906	0.23;0.23	5.67	3.81	0.43845	von Willebrand factor, type D domain (3);	0.061951	0.64402	N	0.000003	T	0.56140	0.1965	N	0.17278	0.47	0.47441	D	0.999423	D	0.89917	1.0	D	0.91635	0.999	T	0.49523	-0.8931	10	0.13108	T	0.6	.	11.7284	0.51722	0.1419:0.0:0.8581:0.0	.	1504	O75443	TECTA_HUMAN	H	1504	ENSP00000376543:R1504H;ENSP00000264037:R1504H	ENSP00000264037:R1504H	R	+	2	0	TECTA	120533965	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	4.851000	0.62896	1.418000	0.47098	-0.253000	0.11424	CGC		0.657	TECTA-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313850.1	NM_005422		11	20	0	0	0	1	0	11	20					A	121028755	G	A	121028755	3	1	133	1	0	0	0	0	1	0	0	0	15744	1087	38	1	4561	1	TECTA	11	121028755	Missense_Mutation	SNP	G	TCGA-EJ-A7NN-01A-11D-A33T-08	17120418	121028755	13977761	35	6809											
STAB2	55576	broad.mit.edu	37	chr12	104118778	104118778	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tggcggctgtagtgaatttgCcatctgcaaccacactgggc	8	10	12	11	1	1	1	0	1	1	0	1	1	1	1	2	3	3	3	2	3	3	2			TCGA-EJ-A7NN-01A-11D-A33T-08	TCGA-EJ-A7NN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860c80f6-64b2-4089-87ee-8d64a6eba17b	c9b96788-9d99-4be5-a458-9e3d2c8755ea	g.chr12:104118778C>T	ENST00000388887.2	+	45	4913	c.4709C>T	c.(4708-4710)gCc>gTc	p.A1570V		NM_017564.9	NP_060034.9			stabilin 2											NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						AGTGAATTTGCCATCTGCAAC	0.468																																						ENST00000388887.2																			0				NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						c.(4708-4710)gCc>gTc		stabilin 2							166	172	170					12																	104118778		2203	4300	6503	SO:0001583	missense	55576				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity	g.chr12:104118778C>T	AF160476	CCDS31888.1	12q23.3	2007-01-29				ENSG00000136011			18629	protein-coding gene	gene with protein product	"hyaluronic acid receptor for endocytosis"	608561				11829752, 12077138	Standard	XR_429107		Approved	DKFZP434E0321, FELL, STAB-2, HARE, FEEL-2	uc001tjw.3	Q8WWQ8	OTTHUMG00000170056	ENST00000388887.2:c.4709C>T	12.37:g.104118778C>T	ENSP00000373539:p.Ala1570Val						p.A1570V	NM_017564.9	NP_060034.9	Q8WWQ8	STAB2_HUMAN			45	4913	+			1570			EGF-like 14.			Missense_Mutation	SNP	ENST00000388887.2	37	c.4709C>T	CCDS31888.1	.	.	.	.	.	.	.	.	.	.	C	27.0	4.787891	0.90367	.	.	ENSG00000136011	ENST00000388887;ENST00000258495	D	0.97710	-4.5	5.38	5.38	0.77491	EGF domain, merozoite surface protein 1-like (1);Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	D	0.000000	D	0.98324	0.9444	L	0.58969	1.84	0.53688	D	0.99997	D	0.89917	1.0	D	0.91635	0.999	D	0.99809	1.1040	10	0.87932	D	0	.	17.8939	0.88880	0.0:1.0:0.0:0.0	.	1570	Q8WWQ8	STAB2_HUMAN	V	1570;257	ENSP00000373539:A1570V	ENSP00000258495:A257V	A	+	2	0	STAB2	102642908	1.000000	0.71417	0.778000	0.31720	0.866000	0.49608	6.368000	0.73104	2.515000	0.84797	0.561000	0.74099	GCC		0.468	STAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407089.1			4	234	0	0	0	1	0	4	234					T	104118778	C	T	104118778	3	4	133	1	0	0	0	0	1	0	0	0	15237	739	26	3	4887	3	STAB2	12	104118778	Missense_Mutation	SNP	C	TCGA-EJ-A7NN-01A-11D-A33T-08		104118778	29733117	36	6810											
HIP1R	9026	broad.mit.edu	37	chr12	123333379	123333379	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agcggtaccgcagcaacatcCgggagattggagacctgtgg	10	6	15	10	3	0	2	0	0	0	2	1	4	1	2	3	4	4	3	3	4	2	2			TCGA-EJ-A7NN-01A-11D-A33T-08	TCGA-EJ-A7NN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860c80f6-64b2-4089-87ee-8d64a6eba17b	c9b96788-9d99-4be5-a458-9e3d2c8755ea	g.chr12:123333379C>A	ENST00000253083.4	+	4	462	c.337C>A	c.(337-339)Cgg>Agg	p.R113R		NM_003959.1	NP_003950.1	O75146	HIP1R_HUMAN	huntingtin interacting protein 1 related	113	ENTH. {ECO:0000255|PROSITE- ProRule:PRU00243}.				receptor-mediated endocytosis (GO:0006898)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|intracellular membrane-bounded organelle (GO:0043231)	phosphatidylinositol binding (GO:0035091)			breast(1)|endometrium(5)|kidney(6)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	26	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;4.6e-05)|Epithelial(86;0.000119)|BRCA - Breast invasive adenocarcinoma(302;0.2)		CAGCAACATCCGGGAGATTGG	0.642																																						ENST00000253083.4																			0				breast(1)|endometrium(5)|kidney(6)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	26						c.(337-339)Cgg>Agg		huntingtin interacting protein 1 related							88	83	85					12																	123333379		2203	4300	6503	SO:0001819	synonymous_variant	9026				receptor-mediated endocytosis	clathrin coated vesicle membrane|coated pit|perinuclear region of cytoplasm	actin binding|phosphatidylinositol binding	g.chr12:123333379C>A	AB013384	CCDS31922.1	12q24	2007-12-07			ENSG00000130787	ENSG00000130787			18415	protein-coding gene	gene with protein product		605613				16415883	Standard	NM_003959		Approved	KIAA0655, HIP3, HIP12, FLJ14000, ILWEQ	uc001udj.1	O75146	OTTHUMG00000168765	ENST00000253083.4:c.337C>A	12.37:g.123333379C>A							p.R113R	NM_003959.1	NP_003950.1	O75146	HIP1R_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;4.6e-05)|Epithelial(86;0.000119)|BRCA - Breast invasive adenocarcinoma(302;0.2)	4	462	+	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		113			ENTH.		A6NHQ6|Q6NXG8|Q9UED9	Silent	SNP	ENST00000253083.4	37	c.337C>A	CCDS31922.1																																																																																				0.642	HIP1R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400935.1	NM_003959		3	57	1	0	0.150653	1	0.153251	3	57					A	123333379	C	A	123333379	2	1	133	1	0	0	0	0	0	0	0	1	7115	643	23	5		5	HIP1R	12	123333379	Silent	SNP	C	TCGA-EJ-A7NN-01A-11D-A33T-08	19214601	123333379	10518516	37	6811											
CMA1	1215	broad.mit.edu	37	chr14	24975732	24975732	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttatattttggatgacggaaTtgctttataacctcaagctt	11	17	7	6	1	1	1	1	1	0	0	1	3	1	3	1	2	3	2	1	2	6	9			TCGA-EJ-A7NN-01A-11D-A33T-08	TCGA-EJ-A7NN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860c80f6-64b2-4089-87ee-8d64a6eba17b	c9b96788-9d99-4be5-a458-9e3d2c8755ea	g.chr14:24975732T>G	ENST00000250378.3	-	3	317	c.288A>C	c.(286-288)caA>caC	p.Q96H	RP11-80A15.1_ENST00000555109.1_Intron|CMA1_ENST00000206446.4_5'UTR	NM_001836.3	NP_001827.1	P23946	CMA1_HUMAN	chymase 1, mast cell	96	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				angiotensin maturation (GO:0002003)|cellular protein metabolic process (GO:0044267)|cellular response to glucose stimulus (GO:0071333)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|interleukin-1 beta biosynthetic process (GO:0050720)|midbrain development (GO:0030901)|peptide metabolic process (GO:0006518)|positive regulation of angiogenesis (GO:0045766)|regulation of inflammatory response (GO:0050727)	extracellular region (GO:0005576)|intracellular (GO:0005622)	peptide binding (GO:0042277)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			kidney(1)|lung(8)|pancreas(1)|prostate(1)	11				GBM - Glioblastoma multiforme(265;0.0271)		GATGACGGAATTGCTTTATAA	0.428																																						ENST00000250378.3																			0				kidney(1)|lung(8)|pancreas(1)|prostate(1)	11						c.(286-288)caA>caC		chymase 1, mast cell							367	319	335					14																	24975732		2203	4300	6503	SO:0001583	missense	1215				interleukin-1 beta biosynthetic process|proteolysis	extracellular region	serine-type endopeptidase activity	g.chr14:24975732T>G		CCDS9630.1	14q12	2012-08-30			ENSG00000092009	ENSG00000092009	3.4.21.39		2097	protein-coding gene	gene with protein product		118938				8468056	Standard	NM_001836		Approved		uc001wpp.1	P23946	OTTHUMG00000140181	ENST00000250378.3:c.288A>C	14.37:g.24975732T>G	ENSP00000250378:p.Gln96His					RP11-80A15.1_ENST00000555109.1_Intron|CMA1_ENST00000206446.4_5'UTR	p.Q96H	NM_001836.3	NP_001827.1	P23946	CMA1_HUMAN		GBM - Glioblastoma multiforme(265;0.0271)	3	317	-			96			Peptidase S1.		B5BUM8|Q16018|Q3SY36|Q3SY37|Q9UDH5	Missense_Mutation	SNP	ENST00000250378.3	37	c.288A>C	CCDS9630.1	.	.	.	.	.	.	.	.	.	.	T	14.13	2.442263	0.43326	.	.	ENSG00000092009	ENST00000250378	D	0.88509	-2.39	5.52	1.84	0.25277	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.53938	D	0.000047	D	0.86222	0.5881	N	0.12471	0.22	0.44268	D	0.997128	D	0.89917	1.0	D	0.97110	1.0	T	0.83318	-0.0019	10	0.59425	D	0.04	.	6.7204	0.23327	0.0:0.2889:0.0:0.7111	.	96	P23946	CMA1_HUMAN	H	96	ENSP00000250378:Q96H	ENSP00000250378:Q96H	Q	-	3	2	CMA1	24045572	0.085000	0.21516	0.225000	0.23894	0.282000	0.26991	-0.119000	0.10676	0.161000	0.19458	0.533000	0.62120	CAA		0.428	CMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276535.2			38	101	0	0	0	1	0	38	101					G	24975732	T	G	24975732	3	3	133	1	0	0	0	0	1	0	0	0	3574	1490	52	5	467	5	CMA1	14	24975732	Missense_Mutation	SNP	T	TCGA-EJ-A7NN-01A-11D-A33T-08		24975732	82373808	38	6812											
ALDH1A3	220	broad.mit.edu	37	chr15	101438349	101438350	+	Frame_Shift_Ins	INS	-	-	G																															aagcgggtgacgctggagctINSgggggggaagaacccctgca																								rs142377552	byFrequency	TCGA-EJ-A7NN-01A-11D-A33T-08	TCGA-EJ-A7NN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860c80f6-64b2-4089-87ee-8d64a6eba17b	c9b96788-9d99-4be5-a458-9e3d2c8755ea	g.chr15:101438349_101438350insG	ENST00000329841.5	+	8	1374_1375	c.842_843insG	c.(841-846)ctggggfs	p.LG281fs	ALDH1A3_ENST00000346623.6_Frame_Shift_Ins_p.LG174fs|RP11-66B24.4_ENST00000560351.1_RNA	NM_000693.2	NP_000684.2	P47895	AL1A3_HUMAN	aldehyde dehydrogenase 1 family, member A3	281					embryonic eye morphogenesis (GO:0048048)|face development (GO:0060324)|inner ear morphogenesis (GO:0042472)|locomotory behavior (GO:0007626)|neuromuscular process controlling balance (GO:0050885)|nucleus accumbens development (GO:0021768)|olfactory pit development (GO:0060166)|optic cup morphogenesis involved in camera-type eye development (GO:0002072)|positive regulation of apoptotic process (GO:0043065)|retinal metabolic process (GO:0042574)|retinoic acid biosynthetic process (GO:0002138)|retinoic acid metabolic process (GO:0042573)|retinol metabolic process (GO:0042572)|righting reflex (GO:0060013)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	aldehyde dehydrogenase (NAD) activity (GO:0004029)|aldehyde dehydrogenase [NAD(P)+] activity (GO:0004030)|NAD+ binding (GO:0070403)|protein homodimerization activity (GO:0042803)|thyroid hormone binding (GO:0070324)			NS(1)|central_nervous_system(2)|endometrium(3)|large_intestine(7)|lung(9)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	27	Lung NSC(78;0.00144)|all_lung(78;0.0018)|Melanoma(26;0.00852)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.0766)|Lung(145;0.103)		Vitamin A(DB00162)	ACGCTGGAGCTGGGGGGGAAGA	0.569																																						ENST00000329841.5																			0				NS(1)|central_nervous_system(2)|endometrium(3)|large_intestine(7)|lung(9)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	27						c.(841-843)cggfs		aldehyde dehydrogenase 1 family, member A3	NADH(DB00157)|Vitamin A(DB00162)																																			SO:0001589	frameshift_variant	220				retinal metabolic process	cytoplasm	aldehyde dehydrogenase|protein homodimerization activity	g.chr15:101438349_101438350insG	U07919	CCDS10389.1	15q26	2010-05-07			ENSG00000184254	ENSG00000184254	1.2.1.5	"Aldehyde dehydrogenases"	409	protein-coding gene	gene with protein product	"retinaldehyde dehydrogenase 3"	600463		ALDH6		7698756	Standard	XR_111558		Approved	RALDH3	uc002bwn.4	P47895	OTTHUMG00000149870	ENST00000329841.5:c.849dupG	15.37:g.101438356_101438356dupG	ENSP00000332256:p.Leu281fs					ALDH1A3_ENST00000346623.6_Frame_Shift_Ins_p.R174fs|RP11-66B24.4_ENST00000560351.1_RNA	p.R281fs	NM_000693.2	NP_000684.2	P47895	AL1A3_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.0766)|Lung(145;0.103)		8	1374_1375	+	Lung NSC(78;0.00144)|all_lung(78;0.0018)|Melanoma(26;0.00852)		281					Q6NT64	Frame_Shift_Ins	INS	ENST00000329841.5	37	c.842_843insG	CCDS10389.1																																																																																				0.569	ALDH1A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313620.2			12	48						12	48	---	---	---	---	G	101438350	-	G	101438349	7	5	133	1	0	1	1	0	0	0	0	0	492	1580	55	0	872	0	ALDH1A3	15	101438349	Frame_Shift_Ins	INS	-	TCGA-EJ-A7NN-01A-11D-A33T-08		101438349	1093043	39	6813											
ABCA9	10350	broad.mit.edu	37	chr17	67003937	67003937	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	accaaatgccactattttttCtcccattgcgaaaaatgaat	14	13	4	10	1	1	1	0	1	1	0	2	2	1	1	3	0	2	0	3	0	5	5			TCGA-EJ-A7NN-01A-11D-A33T-08	TCGA-EJ-A7NN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860c80f6-64b2-4089-87ee-8d64a6eba17b	c9b96788-9d99-4be5-a458-9e3d2c8755ea	g.chr17:67003937C>T	ENST00000340001.4	-	25	3609	c.3398G>A	c.(3397-3399)aGa>aAa	p.R1133K	ABCA9_ENST00000370732.2_Missense_Mutation_p.R1133K|ABCA9-AS1_ENST00000458677.1_RNA|ABCA9_ENST00000453985.2_Intron	NM_080283.3	NP_525022.2	Q8IUA7	ABCA9_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 9	1133					transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	91	Breast(10;1.47e-12)					ACTATTTTTTCTCCCATTGCG	0.313																																						ENST00000340001.4																			0				NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	91						c.(3397-3399)aGa>aAa		ATP-binding cassette, sub-family A (ABC1), member 9							88	89	88					17																	67003937		2203	4297	6500	SO:0001583	missense	10350				transport	integral to membrane	ATP binding|ATPase activity	g.chr17:67003937C>T	AF423307	CCDS11681.1	17q24	2012-03-14			ENSG00000154258	ENSG00000154258		"ATP binding cassette transporters / subfamily A"	39	protein-coding gene	gene with protein product		612507					Standard	XM_005256934		Approved	EST640918	uc002jhu.3	Q8IUA7	OTTHUMG00000140371	ENST00000340001.4:c.3398G>A	17.37:g.67003937C>T	ENSP00000342216:p.Arg1133Lys					ABCA9-AS1_ENST00000458677.1_RNA|ABCA9_ENST00000453985.2_Intron|ABCA9_ENST00000370732.2_Missense_Mutation_p.R1133K	p.R1133K	NM_080283.3	NP_525022.2	Q8IUA7	ABCA9_HUMAN			25	3609	-	Breast(10;1.47e-12)		1133					Q6P655|Q8N2S4|Q8WWZ5|Q96MD8	Missense_Mutation	SNP	ENST00000340001.4	37	c.3398G>A	CCDS11681.1	.	.	.	.	.	.	.	.	.	.	C	7.509	0.654311	0.14580	.	.	ENSG00000154258	ENST00000340001;ENST00000370732	D;D	0.82167	-1.58;-1.58	4.74	1.67	0.24075	.	0.116034	0.37809	N	0.001928	T	0.70762	0.3261	L	0.42581	1.335	0.09310	N	1	B	0.19935	0.04	B	0.24006	0.05	T	0.51458	-0.8703	10	0.15499	T	0.54	.	4.6556	0.12615	0.0:0.5729:0.161:0.2661	.	1133	Q8IUA7	ABCA9_HUMAN	K	1133	ENSP00000342216:R1133K;ENSP00000359767:R1133K	ENSP00000342216:R1133K	R	-	2	0	ABCA9	64515532	0.000000	0.05858	0.017000	0.16124	0.435000	0.31806	-0.571000	0.05889	0.186000	0.20125	-0.484000	0.04775	AGA		0.313	ABCA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277072.2	NM_172386		31	58	0	0	0	1	0	31	58					T	67003937	C	T	67003937	3	4	133	1	0	0	0	0	1	0	0	0	39	913	32	3	1536	3	ABCA9	17	67003937	Missense_Mutation	SNP	C	TCGA-EJ-A7NN-01A-11D-A33T-08		67003937	14191273	40	6814											
QRICH2	84074	broad.mit.edu	37	chr17	74272813	74272813	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccatccgtcccttgtaaatGtggccatccaggcccaagat	9	10	8	14	1	0	1	0	0	0	1	4	1	4	1	6	2	0	1	6	2	3	2	rs368576920		TCGA-EJ-A7NN-01A-11D-A33T-08	TCGA-EJ-A7NN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860c80f6-64b2-4089-87ee-8d64a6eba17b	c9b96788-9d99-4be5-a458-9e3d2c8755ea	g.chr17:74272813G>C	ENST00000262765.5	-	17	4982	c.4803C>G	c.(4801-4803)caC>caG	p.H1601Q		NM_032134.1	NP_115510.1	Q9H0J4	QRIC2_HUMAN	glutamine rich 2	1601										breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(2)|stomach(4)	62						CCTTGTAAATGTGGCCATCCA	0.597																																						ENST00000262765.5																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(2)|stomach(4)	62						c.(4801-4803)caC>caG		glutamine rich 2							117	91	100					17																	74272813		2203	4300	6503	SO:0001583	missense	84074						protein binding	g.chr17:74272813G>C	AK058102	CCDS32741.1	17q25.1	2009-03-19			ENSG00000129646	ENSG00000129646			25326	protein-coding gene	gene with protein product							Standard	NM_032134		Approved	DKFZP434P0316	uc002jrd.1	Q9H0J4	OTTHUMG00000167578	ENST00000262765.5:c.4803C>G	17.37:g.74272813G>C	ENSP00000262765:p.His1601Gln						p.H1601Q	NM_032134.1	NP_115510.1	Q9H0J4	QRIC2_HUMAN			17	4982	-			1601					A2RRE1|Q96LM3	Missense_Mutation	SNP	ENST00000262765.5	37	c.4803C>G	CCDS32741.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.91|13.91	2.378700|2.378700	0.42207|0.42207	.|.	.|.	ENSG00000129646|ENSG00000129646	ENST00000532549|ENST00000262765	.|T	.|0.17054	.|2.3	5.63|5.63	-4.37|-4.37	0.03633|0.03633	.|.	.|.	.|.	.|.	.|.	T|T	0.31295|0.31295	0.0792|0.0792	L|L	0.52126|0.52126	1.63|1.63	0.25579|0.25579	N|N	0.986818|0.986818	.|D	.|0.71674	.|0.998	.|D	.|0.64237	.|0.923	T|T	0.33523|0.33523	-0.9865|-0.9865	5|9	.|0.49607	.|T	.|0.09	-32.7874|-32.7874	16.9865|16.9865	0.86341|0.86341	0.3038:0.0:0.6962:0.0|0.3038:0.0:0.6962:0.0	.|.	.|1601	.|Q9H0J4	.|QRIC2_HUMAN	D|Q	200|1601	.|ENSP00000262765:H1601Q	.|ENSP00000262765:H1601Q	H|H	-|-	1|3	0|2	QRICH2|QRICH2	71784408|71784408	0.788000|0.788000	0.28762|0.28762	0.963000|0.963000	0.40424|0.40424	0.874000|0.874000	0.50279|0.50279	-0.171000|-0.171000	0.09883|0.09883	-0.836000|-0.836000	0.04229|0.04229	-0.367000|-0.367000	0.07326|0.07326	CAT|CAC		0.597	QRICH2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395140.1	NM_032134		40	67	0	0	0	1	0	40	67					C	74272813	G	C	74272813	3	2	133	1	0	0	0	0	1	0	0	0	12880	1368	48	5	200	5	QRICH2	17	74272813	Missense_Mutation	SNP	G	TCGA-EJ-A7NN-01A-11D-A33T-08	7268876	74272813	6922397	41	6815											
ZNF491	126069	broad.mit.edu	37	chr19	11917051	11917051	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	actgctttcgaacacatgaaAggcctcacactagagagaaa	16	7	8	10	1	1	3	1	1	0	2	2	5	1	3	1	1	2	1	1	1	4	2			TCGA-EJ-A7NN-01A-11D-A33T-08	TCGA-EJ-A7NN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860c80f6-64b2-4089-87ee-8d64a6eba17b	c9b96788-9d99-4be5-a458-9e3d2c8755ea	g.chr19:11917051A>G	ENST00000323169.5	+	3	614	c.283A>G	c.(283-285)Agg>Ggg	p.R95G	ZNF491_ENST00000492230.1_Intron	NM_152356.3	NP_689569.2	Q8N8L2	ZN491_HUMAN	zinc finger protein 491	95					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(14)|lung(6)|ovary(2)|skin(1)	26						AACACATGAAAGGCCTCACAC	0.393																																						ENST00000323169.5																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(14)|lung(6)|ovary(2)|skin(1)	26						c.(283-285)Agg>Ggg		zinc finger protein 491							53	54	53					19																	11917051		2199	4300	6499	SO:0001583	missense	126069				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:11917051A>G	AK092110	CCDS12267.1	19p13.2	2013-01-08			ENSG00000177599	ENSG00000177599		"Zinc fingers, C2H2-type"	23706	protein-coding gene	gene with protein product							Standard	XM_005259730		Approved	FLJ34791	uc002mso.1	Q8N8L2	OTTHUMG00000156529	ENST00000323169.5:c.283A>G	19.37:g.11917051A>G	ENSP00000313443:p.Arg95Gly					ZNF491_ENST00000492230.1_Intron	p.R95G	NM_152356.3	NP_689569.2	Q8N8L2	ZN491_HUMAN			3	614	+			95					Q3MJ35|Q8NAT8	Missense_Mutation	SNP	ENST00000323169.5	37	c.283A>G	CCDS12267.1	.	.	.	.	.	.	.	.	.	.	a	9.208	1.030182	0.19512	.	.	ENSG00000177599	ENST00000323169;ENST00000455048;ENST00000450087	T;T	0.33654	1.4;1.84	0.914	-1.83	0.07833	Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.39064	0.1064	M	0.90145	3.09	0.09310	N	1	B	0.14012	0.009	B	0.04013	0.001	T	0.48603	-0.9021	9	0.87932	D	0	.	2.4194	0.04444	0.4341:0.0:0.3403:0.2256	.	95	Q8N8L2	ZN491_HUMAN	G	95	ENSP00000313443:R95G;ENSP00000392176:R95G	ENSP00000313443:R95G	R	+	1	2	ZNF491	11778051	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.355000	0.07671	-0.865000	0.04073	-1.443000	0.01068	AGG		0.393	ZNF491-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344518.1	NM_152356		31	45	0	0	0	1	0	31	45					G	11917051	A	G	11917051	3	3	133	1	0	0	0	0	1	0	0	0	17939	63	3	4	285	4	ZNF491	19	11917051	Missense_Mutation	SNP	A	TCGA-EJ-A7NN-01A-11D-A33T-08		11917051	47211932	42	6816											
ATP13A1	57130	broad.mit.edu	37	chr19	19756730	19756730	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcatggccatggccatgaTgtagacggtgctgttgacca	8	10	13	10	1	0	3	0	2	0	1	0	3	0	3	3	3	2	4	3	3	1	2			TCGA-EJ-A7NN-01A-11D-A33T-08	TCGA-EJ-A7NN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860c80f6-64b2-4089-87ee-8d64a6eba17b	c9b96788-9d99-4be5-a458-9e3d2c8755ea	g.chr19:19756730T>C	ENST00000357324.6	-	24	3339	c.3313A>G	c.(3313-3315)Atc>Gtc	p.I1105V	ATP13A1_ENST00000291503.5_Missense_Mutation_p.I987V|GMIP_ENST00000203556.4_5'Flank|GMIP_ENST00000587238.1_5'Flank|GMIP_ENST00000445806.2_5'Flank	NM_020410.2	NP_065143.2	Q9HD20	AT131_HUMAN	ATPase type 13A1	1105						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)			central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29						ATGGCCATGATGTAGACGGTG	0.582																																					Esophageal Squamous(142;920 1789 9047 14684 24777)	ENST00000357324.6																			0				central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29						c.(3313-3315)Atc>Gtc		ATPase type 13A1							248	219	229					19																	19756730		2203	4300	6503	SO:0001583	missense	57130				ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding	g.chr19:19756730T>C	AK056420	CCDS32970.2	19p13.11	2010-04-20	2005-01-12	2005-01-12	ENSG00000105726	ENSG00000105726		"ATPases / P-type"	24215	protein-coding gene	gene with protein product	"cation transporting ATPase"		"ATPase type 13A"	ATP13A		11347906	Standard	NM_020410		Approved	KIAA1825, FLJ31858, CGI-152	uc002nnh.4	Q9HD20	OTTHUMG00000153016	ENST00000357324.6:c.3313A>G	19.37:g.19756730T>C	ENSP00000349877:p.Ile1105Val					ATP13A1_ENST00000291503.5_Missense_Mutation_p.I987V	p.I1105V	NM_020410.2	NP_065143.2	Q9HD20	AT131_HUMAN			24	3339	-			1105					B3KPJ2|B3KTA7|Q6NT90|Q6ZMG7|Q9H6C6	Missense_Mutation	SNP	ENST00000357324.6	37	c.3313A>G	CCDS32970.2	.	.	.	.	.	.	.	.	.	.	T	16.42	3.117045	0.56505	.	.	ENSG00000105726	ENST00000291503;ENST00000357324	T;T	0.56103	0.48;0.48	4.61	4.61	0.57282	.	0.000000	0.85682	D	0.000000	T	0.46983	0.1421	L	0.52573	1.65	0.80722	D	1	B;B	0.31227	0.209;0.314	B;B	0.30855	0.099;0.121	T	0.51624	-0.8682	10	0.59425	D	0.04	-36.8812	11.9855	0.53145	0.0:0.0:0.0:1.0	.	1105;987	Q9HD20;Q9HD20-2	AT131_HUMAN;.	V	987;1105	ENSP00000291503:I987V;ENSP00000349877:I1105V	ENSP00000291503:I987V	I	-	1	0	ATP13A1	19617730	1.000000	0.71417	1.000000	0.80357	0.857000	0.48899	5.713000	0.68415	1.931000	0.55961	0.402000	0.26972	ATC		0.582	ATP13A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329005.1	NM_020410		66	128	0	0	0	1	0	66	128					C	19756730	T	C	19756730	3	2	133	1	0	0	0	0	1	0	0	0	1123	1464	51	4	313	4	ATP13A1	19	19756730	Missense_Mutation	SNP	T	TCGA-EJ-A7NN-01A-11D-A33T-08	7839679	19756730	39372253	43	6817											
HPN	3249	broad.mit.edu	37	chr19	35540280	35540280	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ttctgacagccatcggggcgGcatcctgggccattggtgag	6	9	15	11	2	1	2	0	2	1	0	3	2	2	2	3	5	1	1	3	5	0	2			TCGA-EJ-A7NN-01A-11D-A33T-08	TCGA-EJ-A7NN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860c80f6-64b2-4089-87ee-8d64a6eba17b	c9b96788-9d99-4be5-a458-9e3d2c8755ea	g.chr19:35540280G>A	ENST00000262626.2	+	3	928	c.103G>A	c.(103-105)Gca>Aca	p.A35T	HPN_ENST00000597419.1_Intron|HPN_ENST00000392226.1_Missense_Mutation_p.A35T	NM_182983.2	NP_892028.1	P05981	HEPS_HUMAN	hepsin	35					basement membrane disassembly (GO:0034769)|cholesterol homeostasis (GO:0042632)|cochlea morphogenesis (GO:0090103)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|epithelium development (GO:0060429)|negative regulation of alkaline phosphatase activity (GO:0010693)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|pilomotor reflex (GO:0097195)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of cell growth (GO:0030307)|positive regulation of gene expression (GO:0010628)|positive regulation of hepatocyte proliferation (GO:2000347)|positive regulation of plasminogen activation (GO:0010756)|positive regulation of thyroid hormone generation (GO:2000611)|potassium ion transmembrane transport (GO:0071805)|proteolysis (GO:0006508)|regulation of cell shape (GO:0008360)|response to thyroid hormone (GO:0097066)	cell surface (GO:0009986)|cell-cell junction (GO:0005911)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	calcium-activated potassium channel activity (GO:0015269)|peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)|serine-type exopeptidase activity (GO:0070008)|serine-type peptidase activity (GO:0008236)			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(6)|ovary(2)|upper_aerodigestive_tract(2)	19	all_lung(56;5.38e-08)|Lung NSC(56;8.61e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)		Coagulation factor VIIa(DB00036)	CATCGGGGCGGCATCCTGGGC	0.662																																						ENST00000262626.2																			0				central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(6)|ovary(2)|upper_aerodigestive_tract(2)	19						c.(103-105)Gca>Aca		hepsin	Coagulation factor VIIa(DB00036)						89	83	85					19																	35540280		2203	4300	6503	SO:0001583	missense	3249				cell growth|proteolysis	cytoplasm|integral to plasma membrane	scavenger receptor activity|serine-type endopeptidase activity	g.chr19:35540280G>A		CCDS32993.1	19q13.12	2013-04-25	2008-12-08		ENSG00000105707	ENSG00000105707		"Serine peptidases / Transmembrane"	5155	protein-coding gene	gene with protein product	"transmembrane protease, serine 1"	142440				2835076	Standard	NM_182983		Approved	TMPRSS1	uc002nxq.2	P05981	OTTHUMG00000182474	ENST00000262626.2:c.103G>A	19.37:g.35540280G>A	ENSP00000262626:p.Ala35Thr					HPN_ENST00000597419.1_Intron|HPN_ENST00000392226.1_Missense_Mutation_p.A35T	p.A35T	NM_182983.2	NP_892028.1	P05981	HEPS_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0849)		3	928	+	all_lung(56;5.38e-08)|Lung NSC(56;8.61e-08)|Esophageal squamous(110;0.162)		35					B2RDS4	Missense_Mutation	SNP	ENST00000262626.2	37	c.103G>A	CCDS32993.1	.	.	.	.	.	.	.	.	.	.	G	17.25	3.341356	0.60963	.	.	ENSG00000105707	ENST00000262626;ENST00000392226	D;D	0.89196	-2.48;-2.48	4.85	3.73	0.42828	.	0.152293	0.43260	D	0.000582	D	0.88280	0.6394	L	0.27053	0.805	0.45837	D	0.998703	D	0.63880	0.993	D	0.74674	0.984	D	0.84507	0.0620	10	0.24483	T	0.36	.	9.8713	0.41175	0.0:0.0:0.7961:0.2039	.	35	P05981	HEPS_HUMAN	T	35	ENSP00000262626:A35T;ENSP00000376060:A35T	ENSP00000262626:A35T	A	+	1	0	HPN	40232120	0.843000	0.29541	0.589000	0.28718	0.756000	0.42949	2.984000	0.49353	2.396000	0.81511	0.313000	0.20887	GCA		0.662	HPN-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461573.1	NM_002151		4	109	0	0	0	1	0	4	109					A	35540280	G	A	35540280	3	1	133	1	0	0	0	0	1	0	0	0	7336	1203	42	3	109	3	HPN	19	35540280	Missense_Mutation	SNP	G	TCGA-EJ-A7NN-01A-11D-A33T-08	15783550	35540280	23588703	44	6818											
FCGBP	8857	broad.mit.edu	37	chr19	40430352	40430352	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgtaggcgcgcacagtgaCgaggcccacgtaggagacgc	9	4	16	12	5	0	2	0	1	0	1	0	4	0	2	1	3	0	4	1	3	2	2			TCGA-EJ-A7NN-01A-11D-A33T-08	TCGA-EJ-A7NN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860c80f6-64b2-4089-87ee-8d64a6eba17b	c9b96788-9d99-4be5-a458-9e3d2c8755ea	g.chr19:40430352C>T	ENST00000221347.6	-	3	1598	c.1591G>A	c.(1591-1593)Gtc>Atc	p.V531I		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	531	VWFD 1. {ECO:0000255|PROSITE- ProRule:PRU00580}.					extracellular vesicular exosome (GO:0070062)				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			CGCACAGTGACGAGGCCCACG	0.652																																						ENST00000221347.6																			0				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165						c.(1591-1593)Gtc>Atc		Fc fragment of IgG binding protein							49	42	44					19																	40430352		2203	4300	6503	SO:0001583	missense	8857					extracellular region	protein binding	g.chr19:40430352C>T	D84239		19q13.2	2013-09-20			ENSG00000090920	ENSG00000275395			13572	protein-coding gene	gene with protein product	"IgG Fc binding protein", "Human Fc gamma BP"					9182547	Standard	NM_003890		Approved	FC(GAMMA)BP	uc002omp.4	Q9Y6R7	OTTHUMG00000182580	ENST00000221347.6:c.1591G>A	19.37:g.40430352C>T	ENSP00000221347:p.Val531Ile						p.V531I	NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)		3	1598	-	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		531			VWFD 1.		O95784	Missense_Mutation	SNP	ENST00000221347.6	37	c.1591G>A	CCDS12546.1	.	.	.	.	.	.	.	.	.	.	C	17.82	3.483276	0.63962	.	.	ENSG00000090920	ENST00000221347	T	0.62232	0.04	5.53	5.53	0.82687	von Willebrand factor, type D domain (3);	0.000000	0.52532	U	0.000075	T	0.74191	0.3684	L	0.55213	1.73	0.37028	D	0.896564	D	0.89917	1.0	D	0.87578	0.998	T	0.70400	-0.4882	10	0.14656	T	0.56	.	18.2443	0.89979	0.0:1.0:0.0:0.0	.	531	Q9Y6R7	FCGBP_HUMAN	I	531	ENSP00000221347:V531I	ENSP00000221347:V531I	V	-	1	0	FCGBP	45122192	0.807000	0.29009	0.481000	0.27354	0.175000	0.22909	2.630000	0.46494	2.608000	0.88229	0.561000	0.74099	GTC		0.652	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462507.1	NM_003890		16	18	0	0	0	1	0	16	18					T	40430352	C	T	40430352	3	4	133	1	0	0	0	0	1	0	0	0	5778	536	19	1	14762	1	FCGBP	19	40430352	Missense_Mutation	SNP	C	TCGA-EJ-A7NN-01A-11D-A33T-08	4890072	40430352	18698631	45	6819											
CPT1C	126129	broad.mit.edu	37	chr19	50212049	50212049	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	actgcaaggggcacccggacCccacactaccccagccccag	10	2	9	20	1	0	0	0	0	0	0	0	1	0	1	7	3	3	2	7	3	2	1	rs141796718		TCGA-EJ-A7NN-01A-11D-A33T-08	TCGA-EJ-A7NN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860c80f6-64b2-4089-87ee-8d64a6eba17b	c9b96788-9d99-4be5-a458-9e3d2c8755ea	g.chr19:50212049C>A	ENST00000392518.4	+	14	1891	c.1519C>A	c.(1519-1521)Ccc>Acc	p.P507T	CPT1C_ENST00000354199.5_Missense_Mutation_p.P507T|CPT1C_ENST00000405931.2_Missense_Mutation_p.P496T|CPT1C_ENST00000598293.1_Missense_Mutation_p.P507T|CPT1C_ENST00000323446.5_Missense_Mutation_p.P507T	NM_001199752.1	NP_001186681.1	Q8TCG5	CPT1C_HUMAN	carnitine palmitoyltransferase 1C	507					carnitine metabolic process (GO:0009437)|fatty acid beta-oxidation (GO:0006635)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|endoplasmic reticulum membrane (GO:0005789)|mitochondrial outer membrane (GO:0005741)|synapse (GO:0045202)	carnitine O-palmitoyltransferase activity (GO:0004095)			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.00786)		GCACCCGGACCCCACACTACC	0.592																																						ENST00000392518.4																			0				breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(1519-1521)Ccc>Acc		carnitine palmitoyltransferase 1C							88	85	86					19																	50212049		2203	4300	6503	SO:0001583	missense	126129				fatty acid metabolic process	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity	g.chr19:50212049C>A	AF357970	CCDS12779.1, CCDS46147.1	19q13.33	2014-03-14				ENSG00000169169			18540	protein-coding gene	gene with protein product		608846				12376098, 11001805	Standard	NM_001136052		Approved	FLJ23809, CPTIC, CPT1P	uc010eng.3	Q8TCG5		ENST00000392518.4:c.1519C>A	19.37:g.50212049C>A	ENSP00000376303:p.Pro507Thr					CPT1C_ENST00000323446.5_Missense_Mutation_p.P507T|CPT1C_ENST00000405931.2_Missense_Mutation_p.P496T|CPT1C_ENST00000598293.1_Missense_Mutation_p.P507T|CPT1C_ENST00000354199.5_Missense_Mutation_p.P507T	p.P507T	NM_001199752.1	NP_001186681.1	Q8TCG5	CPT1C_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.00786)	14	1891	+		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)	507					A8K0Z8|Q5K6N5|Q8N6Q9|Q8NDS6|Q8TE84	Missense_Mutation	SNP	ENST00000392518.4	37	c.1519C>A	CCDS12779.1	.	.	.	.	.	.	.	.	.	.	C	6.860	0.527963	0.13127	.	.	ENSG00000169169	ENST00000392518;ENST00000354199;ENST00000405931;ENST00000323446;ENST00000295404	D;D;D;D	0.88664	-2.41;-2.41;-2.41;-2.41	4.42	1.02	0.19986	.	0.282093	0.25598	N	0.029563	D	0.87724	0.6249	L	0.33093	0.98	0.09310	N	1	B;D;P;P	0.89917	0.135;1.0;0.539;0.77	B;D;B;P	0.91635	0.115;0.999;0.159;0.463	T	0.77264	-0.2652	10	0.19590	T	0.45	-14.511	6.5608	0.22485	0.0:0.5861:0.0:0.4139	.	378;507;496;507	C9IY45;Q8TCG5-3;Q8TCG5-2;Q8TCG5	.;.;.;CPT1C_HUMAN	T	507;507;496;507;378	ENSP00000376303:P507T;ENSP00000346138:P507T;ENSP00000384465:P496T;ENSP00000319343:P507T	ENSP00000295404:P378T	P	+	1	0	CPT1C	54903861	0.000000	0.05858	0.043000	0.18650	0.648000	0.38561	-0.107000	0.10873	0.494000	0.27859	0.456000	0.33151	CCC		0.592	CPT1C-008	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465873.1	NM_152359		23	71	1	0	5.35356e-11	1	5.74291e-11	23	71					A	50212049	C	A	50212049	3	1	133	1	0	0	0	0	1	0	0	0	3833	623	22	5	1565	5	CPT1C	19	50212049	Missense_Mutation	SNP	C	TCGA-EJ-A7NN-01A-11D-A33T-08	9781697	50212049	8916934	46	6820											
PCSK2	5126	broad.mit.edu	37	chr20	17446197	17446197	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggctccgtgcaggaccctGagtaagtgggggtagtggtc	7	8	18	8	1	0	1	0	1	0	0	2	3	1	2	2	5	1	4	2	5	2	2			TCGA-EJ-A7NN-01A-11D-A33T-08	TCGA-EJ-A7NN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860c80f6-64b2-4089-87ee-8d64a6eba17b	c9b96788-9d99-4be5-a458-9e3d2c8755ea	g.chr20:17446197G>T	ENST00000262545.2	+	11	1744	c.1429G>T	c.(1429-1431)Gag>Tag	p.E477*	PCSK2_ENST00000377899.1_Splice_Site_p.E458*|PCSK2_ENST00000459871.1_3'UTR|PCSK2_ENST00000536609.1_Splice_Site_p.E442*	NM_002594.3	NP_002585.2	P16519	NEC2_HUMAN	proprotein convertase subtilisin/kexin type 2	477					cellular protein metabolic process (GO:0044267)|embryo development (GO:0009790)|enkephalin processing (GO:0034230)|insulin processing (GO:0030070)|islet amyloid polypeptide processing (GO:0034231)|nervous system development (GO:0007399)|protein autoprocessing (GO:0016540)|proteolysis (GO:0006508)	dendrite (GO:0030425)|extracellular space (GO:0005615)|membrane (GO:0016020)|perikaryon (GO:0043204)|secretory granule lumen (GO:0034774)	serine-type endopeptidase activity (GO:0004252)			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|lung(17)|ovary(3)|pancreas(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	53					"""Insulin(DB00071)|Insulin Regular(DB00030)"	GCAGGACCCTGAGTAAGTGGG	0.537																																						ENST00000262545.2																			0				breast(2)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|lung(17)|ovary(3)|pancreas(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	53						c.e11+1		proprotein convertase subtilisin/kexin type 2	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)						44	44	44					20																	17446197		2203	4300	6503	SO:0001630	splice_region_variant	5126				enkephalin processing|insulin processing|islet amyloid polypeptide processing	extracellular space|membrane|soluble fraction|transport vesicle	serine-type endopeptidase activity	g.chr20:17446197G>T	AK312341	CCDS13125.1, CCDS56179.1, CCDS56180.1	20p11.2	2008-08-01			ENSG00000125851	ENSG00000125851			8744	protein-coding gene	gene with protein product	"neuroendocrine convertase 2", "KEX2-like endoprotease 2"	162151		NEC2		1765368	Standard	NM_001201528		Approved	PC2, SPC2	uc002wpm.3	P16519	OTTHUMG00000031941	ENST00000262545.2:c.1430+1G>T	20.37:g.17446197G>T						PCSK2_ENST00000536609.1_Splice_Site_p.E442_splice|PCSK2_ENST00000377899.1_Splice_Site_p.E458_splice|PCSK2_ENST00000459871.1_3'UTR	p.E477_splice	NM_002594.3	NP_002585.2	P16519	NEC2_HUMAN			11	1744	+			477					B1ANH9|B4DFQ3|Q14927|Q5JYQ1|Q8IWA8|Q9NQG3|Q9NUG1|Q9UJC6	Splice_Site	SNP	ENST00000262545.2	37	c.1430_splice	CCDS13125.1	.	.	.	.	.	.	.	.	.	.	G	42	9.360997	0.99148	.	.	ENSG00000125851	ENST00000377899;ENST00000262545;ENST00000536609	.	.	.	5.68	4.73	0.59995	.	0.232716	0.49916	D	0.000121	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.15066	T	0.55	-27.7534	9.5846	0.39508	0.1605:0.0:0.8395:0.0	.	.	.	.	X	458;477;442	.	ENSP00000262545:E477X	E	+	1	0	PCSK2	17394197	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	3.858000	0.55979	1.398000	0.46701	0.555000	0.69702	GAG		0.537	PCSK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078120.2	NM_002594	Nonsense_Mutation	11	11	1	0	0.000151284	1	0.000159389	11	11					T	17446197	G	T	17446197	5	4	133	1	0	0	0	0	0	0	1	0	11601	1304	45	5	1471	5	PCSK2	20	17446197	Splice_Site	SNP	G	TCGA-EJ-A7NN-01A-11D-A33T-08		17446197	45579323	47	6821											
CLCA4	22802	broad.mit.edu	37	chr1	87045673	87045673	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagtattcttgatctaagagAcagttttgatgatgctcttc	11	16	8	6	0	3	4	0	3	3	1	4	5	3	4	0	0	1	3	0	0	3	7			TCGA-EJ-A8FN-01A-11D-A34U-08	TCGA-EJ-A8FN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4526e2b2-d20d-4290-baf5-8d331fce6902	626f7f57-e6e8-4413-8a05-942c859a6d61	g.chr1:87045673A>G	ENST00000370563.3	+	14	2447	c.2405A>G	c.(2404-2406)gAc>gGc	p.D802G	RP4-651E10.4_ENST00000456587.1_RNA	NM_012128.3	NP_036260.2	Q14CN2	CLCA4_HUMAN	chloride channel accessory 4	802					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	chloride channel activity (GO:0005254)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44		Lung NSC(277;0.238)		all cancers(265;0.0202)|Epithelial(280;0.0404)		GATCTAAGAGACAGTTTTGAT	0.343																																						ENST00000370563.3																			0				breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44						c.(2404-2406)gAc>gGc		chloride channel accessory 4							53	48	49					1																	87045673		1845	4089	5934	SO:0001583	missense	22802					apical plasma membrane|extracellular region|integral to plasma membrane	chloride channel activity	g.chr1:87045673A>G	AF127035	CCDS41355.1	1p31-p22	2012-02-26	2009-01-29		ENSG00000016602	ENSG00000016602			2018	protein-coding gene	gene with protein product			"chloride channel, calcium activated, family member 4", "chloride channel regulator 4"			10437792	Standard	NM_012128		Approved	CaCC2	uc009wcs.3	Q14CN2	OTTHUMG00000010260	ENST00000370563.3:c.2405A>G	1.37:g.87045673A>G	ENSP00000359594:p.Asp802Gly					RP4-651E10.4_ENST00000456587.1_RNA	p.D802G	NM_012128.3	NP_036260.2	Q14CN2	CLCA4_HUMAN		all cancers(265;0.0202)|Epithelial(280;0.0404)	14	2447	+		Lung NSC(277;0.238)	802					A8MQC9|B7Z1Q5|Q6UX81|Q9UNF7	Missense_Mutation	SNP	ENST00000370563.3	37	c.2405A>G	CCDS41355.1	.	.	.	.	.	.	.	.	.	.	A	16.22	3.060267	0.55432	.	.	ENSG00000016602	ENST00000370563	T	0.03441	3.93	5.82	5.82	0.92795	.	0.192264	0.45606	D	0.000357	T	0.11623	0.0283	M	0.86502	2.82	0.80722	D	1	D;D	0.69078	0.997;0.994	D;D	0.72075	0.976;0.957	T	0.00686	-1.1610	10	0.72032	D	0.01	-19.433	8.306	0.32042	0.8517:0.0:0.1483:0.0	.	354;802	Q9NXP1;Q14CN2	.;CLCA4_HUMAN	G	802	ENSP00000359594:D802G	ENSP00000359594:D802G	D	+	2	0	CLCA4	86818261	0.977000	0.34250	0.986000	0.45419	0.688000	0.40055	4.587000	0.60991	2.225000	0.72522	0.477000	0.44152	GAC		0.343	CLCA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028292.1	NM_012128		5	51	0	0	0	1	0	5	51					G	87045673	A	G	87045673	3	3	134	1	0	0	0	0	1	0	0	0	3459	275	10	4	2459	4	CLCA4	1	87045673	Missense_Mutation	SNP	A	TCGA-EJ-A8FN-01A-11D-A34U-08		87045673	162204948	1	6822											
SASS6	163786	broad.mit.edu	37	chr1	100572509	100572509	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gttgtttgctttcttcaagtTttttaactgtagcttctaat	7	22	6	6	0	3	0	1	0	2	0	3	0	3	0	0	0	3	6	0	0	4	10			TCGA-EJ-A8FN-01A-11D-A34U-08	TCGA-EJ-A8FN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4526e2b2-d20d-4290-baf5-8d331fce6902	626f7f57-e6e8-4413-8a05-942c859a6d61	g.chr1:100572509T>A	ENST00000287482.5	-	12	1507	c.1367A>T	c.(1366-1368)aAa>aTa	p.K456I	SASS6_ENST00000462159.1_5'UTR|SASS6_ENST00000535161.1_Missense_Mutation_p.K289I	NM_194292.1	NP_919268.1	Q6UVJ0	SAS6_HUMAN	spindle assembly 6 homolog (C. elegans)	456					centriole replication (GO:0007099)|centrosome duplication (GO:0051298)	centriole (GO:0005814)|centrosome (GO:0005813)|deuterosome (GO:0098536)				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	19		all_epithelial(167;4.58e-06)|all_lung(203;0.00125)|Lung NSC(277;0.00131)		Epithelial(280;0.085)|all cancers(265;0.139)|COAD - Colon adenocarcinoma(174;0.15)|Lung(183;0.197)		TTCTTCAAGTTTTTTAACTGT	0.249																																						ENST00000287482.5																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	19						c.(1366-1368)aAa>aTa		spindle assembly 6 homolog (C. elegans)							69	69	69					1																	100572509		2190	4294	6484	SO:0001583	missense	163786				centriole replication	centriole		g.chr1:100572509T>A	AL834265	CCDS764.1	1p21.3	2008-02-05			ENSG00000156876	ENSG00000156876			25403	protein-coding gene	gene with protein product		609321				15665853, 14654843	Standard	NM_194292		Approved	DKFZp761A078, SAS-6, FLJ22097, SAS6	uc001dsu.3	Q6UVJ0	OTTHUMG00000010754	ENST00000287482.5:c.1367A>T	1.37:g.100572509T>A	ENSP00000287482:p.Lys456Ile					SASS6_ENST00000535161.1_Missense_Mutation_p.K289I|SASS6_ENST00000462159.1_5'UTR	p.K456I	NM_194292.1	NP_919268.1	Q6UVJ0	SAS6_HUMAN		Epithelial(280;0.085)|all cancers(265;0.139)|COAD - Colon adenocarcinoma(174;0.15)|Lung(183;0.197)	12	1507	-		all_epithelial(167;4.58e-06)|all_lung(203;0.00125)|Lung NSC(277;0.00131)	456					D3DT55|Q8N3K0	Missense_Mutation	SNP	ENST00000287482.5	37	c.1367A>T	CCDS764.1	.	.	.	.	.	.	.	.	.	.	T	27.5	4.833803	0.91036	.	.	ENSG00000156876	ENST00000287482;ENST00000539329;ENST00000535161	T;T	0.33216	1.42;1.42	5.85	5.85	0.93711	.	0.000000	0.85682	D	0.000000	T	0.51312	0.1667	M	0.79926	2.475	0.53688	D	0.999977	D	0.89917	1.0	D	0.80764	0.994	T	0.58418	-0.7640	10	0.72032	D	0.01	-26.6718	16.2348	0.82365	0.0:0.0:0.0:1.0	.	456	Q6UVJ0	SAS6_HUMAN	I	456;429;289	ENSP00000287482:K456I;ENSP00000440169:K289I	ENSP00000287482:K456I	K	-	2	0	SASS6	100345097	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	6.596000	0.74113	2.229000	0.72834	0.477000	0.44152	AAA		0.249	SASS6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029656.2	NM_194292		8	30	0	0	0	1	0	8	30					A	100572509	T	A	100572509	3	1	134	1	0	0	0	0	1	0	0	0	13850	1841	64	5	630	5	SASS6	1	100572509	Missense_Mutation	SNP	T	TCGA-EJ-A8FN-01A-11D-A34U-08	13526836	100572509	148678112	2	6823											
COL11A1	1301	broad.mit.edu	37	chr1	103471673	103471673	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcctccatctgcacctggaCgaccctaataatgccaacag	11	9	6	15	1	1	0	0	0	1	0	3	2	3	1	5	1	3	1	5	1	3	3			TCGA-EJ-A8FN-01A-11D-A34U-08	TCGA-EJ-A8FN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4526e2b2-d20d-4290-baf5-8d331fce6902	626f7f57-e6e8-4413-8a05-942c859a6d61	g.chr1:103471673C>T	ENST00000370096.3	-	17	2054	c.1742G>A	c.(1741-1743)cGt>cAt	p.R581H	COL11A1_ENST00000512756.1_Missense_Mutation_p.R465H|COL11A1_ENST00000358392.2_Missense_Mutation_p.R593H|COL11A1_ENST00000353414.4_Missense_Mutation_p.R542H|COL11A1_ENST00000461720.1_5'UTR	NM_001854.3	NP_001845.3	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	581	Collagen-like 2.|Triple-helical region.				cartilage condensation (GO:0001502)|chondrocyte development (GO:0002063)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|embryonic skeletal system morphogenesis (GO:0048704)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|proteoglycan metabolic process (GO:0006029)|sensory perception of sound (GO:0007605)|tendon development (GO:0035989)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visual perception (GO:0007601)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		TGCACCTGGACGACCCTAATA	0.373																																						ENST00000358392.2																			0				NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258						c.(1777-1779)cGt>cAt		collagen, type XI, alpha 1							65	64	64					1																	103471673		2203	4300	6503	SO:0001583	missense	1301				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging	g.chr1:103471673C>T	J04177	CCDS778.1, CCDS780.1, CCDS780.2, CCDS53348.1	1p21	2013-01-16			ENSG00000060718	ENSG00000060718		"Collagens"	2186	protein-coding gene	gene with protein product	"collagen XI, alpha-1 polypeptide"	120280		COLL6		3182841	Standard	NM_080630		Approved	STL2, CO11A1	uc001dul.3	P12107	OTTHUMG00000010872	ENST00000370096.3:c.1742G>A	1.37:g.103471673C>T	ENSP00000359114:p.Arg581His					COL11A1_ENST00000353414.4_Missense_Mutation_p.R542H|COL11A1_ENST00000512756.1_Missense_Mutation_p.R465H|COL11A1_ENST00000461720.1_5'UTR|COL11A1_ENST00000370096.3_Missense_Mutation_p.R581H	p.R593H	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)	17	2095	-		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)	581			Triple-helical region.		B1ASK7|D3DT73|E9PCU0|Q14034|Q149N0|Q9UIT4|Q9UIT5|Q9UIT6	Missense_Mutation	SNP	ENST00000370096.3	37	c.1778G>A	CCDS778.1	.	.	.	.	.	.	.	.	.	.	C	24.4	4.526726	0.85706	.	.	ENSG00000060718	ENST00000370096;ENST00000358392;ENST00000353414;ENST00000512756	D;D;D;D	0.93659	-3.26;-3.24;-3.24;-3.21	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	D	0.95579	0.8563	L	0.55213	1.73	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.998;0.996;0.996;0.998	D	0.95509	0.8584	10	0.66056	D	0.02	.	19.6772	0.95941	0.0:1.0:0.0:0.0	.	465;542;593;581	E9PCU0;P12107-3;P12107-2;P12107	.;.;.;COBA1_HUMAN	H	581;593;542;465	ENSP00000359114:R581H;ENSP00000351163:R593H;ENSP00000302551:R542H;ENSP00000426533:R465H	ENSP00000302551:R542H	R	-	2	0	COL11A1	103244261	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	7.336000	0.79245	2.656000	0.90262	0.655000	0.94253	CGT		0.373	COL11A1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000029997.1	NM_080630		7	65	0	0	0	1	0	7	65					T	103471673	C	T	103471673	3	4	134	1	0	0	0	0	1	0	0	0	3667	536	19	1	3882	1	COL11A1	1	103471673	Missense_Mutation	SNP	C	TCGA-EJ-A8FN-01A-11D-A34U-08	2899164	103471673	145778948	3	6824											
MOV10	4343	broad.mit.edu	37	chr1	113235477	113235477	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcagatggagcatgatatcCggcactatgacctggagtcg	10	9	13	9	2	0	3	0	2	0	1	2	5	1	5	2	3	2	3	2	3	2	2			TCGA-EJ-A8FN-01A-11D-A34U-08	TCGA-EJ-A8FN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4526e2b2-d20d-4290-baf5-8d331fce6902	626f7f57-e6e8-4413-8a05-942c859a6d61	g.chr1:113235477C>T	ENST00000413052.2	+	7	1456	c.1066C>T	c.(1066-1068)Cgg>Tgg	p.R356W	MOV10_ENST00000357443.2_Missense_Mutation_p.R356W|MOV10_ENST00000468624.1_3'UTR|MOV10_ENST00000369644.1_Missense_Mutation_p.R300W|RP11-426L16.3_ENST00000421943.1_RNA|MOV10_ENST00000369645.1_Missense_Mutation_p.R356W	NM_001130079.1|NM_020963.3	NP_001123551.1|NP_066014.1	Q9HCE1	MOV10_HUMAN	Mov10 RISC complex RNA helicase	356					epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|mRNA cleavage involved in gene silencing by miRNA (GO:0035279)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|extracellular space (GO:0005615)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|prostate(1)|skin(3)|urinary_tract(3)	38	Lung SC(450;0.246)	all_cancers(81;3.31e-11)|all_epithelial(167;5.69e-10)|all_lung(203;3.73e-05)|Breast(1374;0.000525)|Lung NSC(69;0.000954)|Ovarian(761;0.0367)|Lung SC(238;0.114)		OV - Ovarian serous cystadenocarcinoma(397;3.99e-67)|all cancers(265;1e-62)|Epithelial(280;4.78e-61)|Lung(183;0.0234)|Colorectal(144;0.0686)|READ - Rectum adenocarcinoma(129;0.0929)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|BRCA - Breast invasive adenocarcinoma(282;0.24)		GCATGATATCCGGCACTATGA	0.602																																						ENST00000369644.1																			0				breast(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|prostate(1)|skin(3)|urinary_tract(3)	38						c.(898-900)Cgg>Tgg		Mov10, Moloney leukemia virus 10, homolog (mouse)							52	44	47					1																	113235477		2203	4300	6503	SO:0001583	missense	4343				mRNA cleavage involved in gene silencing by miRNA|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body	ATP binding|helicase activity|protein binding|RNA binding	g.chr1:113235477C>T	AL833353	CCDS853.1, CCDS65615.1	1p13.2	2014-07-02	2014-07-02		ENSG00000155363	ENSG00000155363			7200	protein-coding gene	gene with protein product	"functional spliceosome-associated protein 113"	610742	"Mov10 (Moloney leukemia virus 10, mouse) homolog", "Mov10, Moloney leukemia virus 10, homolog (mouse)"			12226669	Standard	NM_001286072		Approved	gb110, MGC2948, fSAP113	uc001eck.3	Q9HCE1	OTTHUMG00000011906	ENST00000413052.2:c.1066C>T	1.37:g.113235477C>T	ENSP00000399797:p.Arg356Trp					MOV10_ENST00000413052.2_Missense_Mutation_p.R356W|MOV10_ENST00000468624.1_3'UTR|MOV10_ENST00000357443.2_Missense_Mutation_p.R356W|MOV10_ENST00000369645.1_Missense_Mutation_p.R356W	p.R300W			Q9HCE1	MOV10_HUMAN		OV - Ovarian serous cystadenocarcinoma(397;3.99e-67)|all cancers(265;1e-62)|Epithelial(280;4.78e-61)|Lung(183;0.0234)|Colorectal(144;0.0686)|READ - Rectum adenocarcinoma(129;0.0929)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|BRCA - Breast invasive adenocarcinoma(282;0.24)	8	1927	+	Lung SC(450;0.246)	all_cancers(81;3.31e-11)|all_epithelial(167;5.69e-10)|all_lung(203;3.73e-05)|Breast(1374;0.000525)|Lung NSC(69;0.000954)|Ovarian(761;0.0367)|Lung SC(238;0.114)	356					Q5JR03|Q8TEF0|Q9BSY3|Q9BUJ9	Missense_Mutation	SNP	ENST00000413052.2	37	c.898C>T	CCDS853.1	.	.	.	.	.	.	.	.	.	.	C	27.2	4.807823	0.90623	.	.	ENSG00000155363	ENST00000413052;ENST00000369645;ENST00000285733;ENST00000369644;ENST00000357443;ENST00000369648	D;D;D;D	0.92965	-3.14;-3.14;-3.12;-3.14	6.06	5.1	0.69264	.	0.207319	0.49916	D	0.000140	D	0.94555	0.8246	M	0.64997	1.995	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.81914	0.995;0.96;0.995	D	0.94565	0.7766	10	0.87932	D	0	-18.0026	15.8333	0.78778	0.1365:0.8635:0.0:0.0	.	300;356;356	Q5JR04;Q9H8T8;Q9HCE1	.;.;MOV10_HUMAN	W	356;356;356;300;356;294	ENSP00000399797:R356W;ENSP00000358659:R356W;ENSP00000358658:R300W;ENSP00000350028:R356W	ENSP00000285733:R356W	R	+	1	2	MOV10	113037000	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.288000	0.51739	2.882000	0.98803	0.655000	0.94253	CGG		0.602	MOV10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032906.1	NM_020963		6	14	0	0	0	1	0	6	14					T	113235477	C	T	113235477	3	4	134	1	0	0	0	0	1	0	0	0	9718	643	23	2	1088	2	MOV10	1	113235477	Missense_Mutation	SNP	C	TCGA-EJ-A8FN-01A-11D-A34U-08	9763804	113235477	136015144	4	6825											
PTPRC	5788	broad.mit.edu	37	chr1	198678866	198678866	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aattagaaaaccttgaacccGaacatgagtataagtgtgac	17	9	8	7	1	0	4	0	3	0	1	0	5	0	4	2	0	3	1	2	0	8	4			TCGA-EJ-A8FN-01A-11D-A34U-08	TCGA-EJ-A8FN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4526e2b2-d20d-4290-baf5-8d331fce6902	626f7f57-e6e8-4413-8a05-942c859a6d61	g.chr1:198678866G>A	ENST00000367376.2	+	11	1249	c.1078G>A	c.(1078-1080)Gaa>Aaa	p.E360K	PTPRC_ENST00000594404.1_Missense_Mutation_p.E199K|PTPRC_ENST00000442510.2_Missense_Mutation_p.E362K|PTPRC_ENST00000352140.3_Missense_Mutation_p.E312K|PTPRC_ENST00000348564.6_Missense_Mutation_p.E201K	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	360					axon guidance (GO:0007411)|B cell proliferation (GO:0042100)|B cell receptor signaling pathway (GO:0050853)|bone marrow development (GO:0048539)|cell cycle phase transition (GO:0044770)|cell surface receptor signaling pathway (GO:0007166)|defense response to virus (GO:0051607)|dephosphorylation (GO:0016311)|hematopoietic progenitor cell differentiation (GO:0002244)|immunoglobulin biosynthetic process (GO:0002378)|negative regulation of cell adhesion involved in substrate-bound cell migration (GO:0006933)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of T cell mediated cytotoxicity (GO:0001915)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of antigen receptor-mediated signaling pathway (GO:0050857)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of hematopoietic stem cell migration (GO:2000473)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of stem cell proliferation (GO:2000648)|positive regulation of T cell proliferation (GO:0042102)|protein dephosphorylation (GO:0006470)|regulation of cell cycle (GO:0051726)|release of sequestered calcium ion into cytosol (GO:0051209)|stem cell development (GO:0048864)|T cell differentiation (GO:0030217)|T cell receptor signaling pathway (GO:0050852)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.E360K(1)		breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						CCTTGAACCCGAACATGAGTA	0.279																																						ENST00000367376.2																			1	Substitution - Missense(1)	p.E360K(1)	large_intestine(1)	breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						c.(1078-1080)Gaa>Aaa		protein tyrosine phosphatase, receptor type, C							55	66	62					1																	198678866		2195	4271	6466	SO:0001583	missense	5788				axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway	focal adhesion|integral to plasma membrane|membrane raft	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr1:198678866G>A	Y00062	CCDS1397.1, CCDS1398.1, CCDS44291.1, CCDS1397.2, CCDS1398.2, CCDS44291.2	1q31-q32	2014-09-17			ENSG00000081237	ENSG00000081237		"CD molecules", "Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Fibronectin type III domain containing"	9666	protein-coding gene	gene with protein product		151460		CD45		2169617	Standard	NM_001267798		Approved	LCA, T200, GP180	uc001gur.2	P08575	OTTHUMG00000035702	ENST00000367376.2:c.1078G>A	1.37:g.198678866G>A	ENSP00000356346:p.Glu360Lys					PTPRC_ENST00000442510.2_Missense_Mutation_p.E362K|PTPRC_ENST00000352140.3_Missense_Mutation_p.E312K|PTPRC_ENST00000594404.1_Missense_Mutation_p.E199K|PTPRC_ENST00000348564.6_Missense_Mutation_p.E201K	p.E360K	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN			11	1249	+			360					A8K7W6|Q16614|Q9H0Y6	Missense_Mutation	SNP	ENST00000367376.2	37	c.1078G>A		.	.	.	.	.	.	.	.	.	.	G	1.015	-0.686746	0.03328	.	.	ENSG00000081237	ENST00000367376;ENST00000367366;ENST00000352140;ENST00000535566;ENST00000530727;ENST00000442510;ENST00000367367;ENST00000348564	T;T;T;T;T;T	0.11604	4.31;4.32;2.76;4.32;3.78;4.32	4.48	-8.97	0.00758	.	1.933800	0.02480	N	0.088376	T	0.05914	0.0154	N	0.19112	0.55	0.09310	N	1	B;B;B;B;B	0.19935	0.04;0.024;0.002;0.002;0.003	B;B;B;B;B	0.09377	0.004;0.002;0.001;0.001;0.001	T	0.30475	-0.9977	10	0.07175	T	0.84	.	11.9291	0.52837	0.1448:0.318:0.5371:0.0	.	296;296;201;312;360	F5GXZ3;B4DSZ5;B1ALS3;E9PC28;P08575	.;.;.;.;PTPRC_HUMAN	K	362;296;312;312;246;360;294;199	ENSP00000356346:E362K;ENSP00000193532:E312K;ENSP00000433536:E246K;ENSP00000411355:E360K;ENSP00000356337:E294K;ENSP00000306782:E199K	ENSP00000306782:E199K	E	+	1	0	PTPRC	196945489	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-3.639000	0.00407	-2.675000	0.00411	-0.964000	0.02622	GAA		0.279	PTPRC-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding				4	121	0	0	0	1	0	4	121					A	198678866	G	A	198678866	3	1	134	1	0	0	0	0	1	0	0	0	12797	1059	37	2	1127	2	PTPRC	1	198678866	Missense_Mutation	SNP	G	TCGA-EJ-A8FN-01A-11D-A34U-08	85443389	198678866	50571755	5	6826											
TRIM67	440730	broad.mit.edu	37	chr1	231337222	231337222	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggacagcgagccgctgctgcAggccatccaccagctggact	8	5	13	15	2	0	0	0	0	0	0	1	3	1	2	4	3	5	4	4	3	0	0			TCGA-EJ-A8FN-01A-11D-A34U-08	TCGA-EJ-A8FN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4526e2b2-d20d-4290-baf5-8d331fce6902	626f7f57-e6e8-4413-8a05-942c859a6d61	g.chr1:231337222A>C	ENST00000366653.5	+	5	1493	c.1493A>C	c.(1492-1494)cAg>cCg	p.Q498P	TRIM67_ENST00000444294.3_Missense_Mutation_p.Q498P|TRIM67_ENST00000366652.2_Missense_Mutation_p.Q498P|TRIM67_ENST00000449018.3_Missense_Mutation_p.Q436P			Q6ZTA4	TRI67_HUMAN	tripartite motif containing 67	498	COS. {ECO:0000255|PROSITE- ProRule:PRU00586}.				negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	zinc ion binding (GO:0008270)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29	Breast(184;0.0871)	all_cancers(173;0.189)|Prostate(94;0.167)				CCGCTGCTGCAGGCCATCCAC	0.572																																						ENST00000444294.3																			0				breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29						c.(1492-1494)cAg>cCg		tripartite motif containing 67							38	43	41					1																	231337222		2031	4204	6235	SO:0001583	missense	440730					cytoplasm|cytoskeleton	zinc ion binding	g.chr1:231337222A>C	AK126782	CCDS44333.1, CCDS73048.1	1q42.2	2014-02-17	2011-01-25		ENSG00000119283	ENSG00000119283		"Tripartite motif containing / Tripartite motif containing", "Fibronectin type III domain containing", "RING-type (C3HC4) zinc fingers"	31859	protein-coding gene	gene with protein product		610584	"tripartite motif-containing 67"				Standard	NM_001004342		Approved	TNL	uc009xfn.1	Q6ZTA4	OTTHUMG00000037958	ENST00000366653.5:c.1493A>C	1.37:g.231337222A>C	ENSP00000355613:p.Gln498Pro					TRIM67_ENST00000366652.2_Missense_Mutation_p.Q498P|TRIM67_ENST00000366653.5_Missense_Mutation_p.Q498P|TRIM67_ENST00000449018.3_Missense_Mutation_p.Q436P	p.Q498P	NM_001004342.3	NP_001004342.3	Q6ZTA4	TRI67_HUMAN			5	2351	+	Breast(184;0.0871)	all_cancers(173;0.189)|Prostate(94;0.167)	498			COS.		Q5TER7|Q5TER8|Q7Z4K7	Missense_Mutation	SNP	ENST00000366653.5	37	c.1493A>C	CCDS44333.1	.	.	.	.	.	.	.	.	.	.	A	23.3	4.398234	0.83120	.	.	ENSG00000119283	ENST00000444294;ENST00000366652;ENST00000449018;ENST00000366653	T;T;T;T	0.71222	-0.55;-0.45;-0.48;-0.55	5.41	3.0	0.34707	COS domain (1);	0.056519	0.64402	N	0.000001	T	0.75079	0.3801	L	0.60455	1.87	0.58432	D	0.999993	D	0.64830	0.994	P	0.58331	0.837	T	0.72792	-0.4186	10	0.56958	D	0.05	.	8.5796	0.33621	0.735:0.1357:0.0:0.1293	.	498	Q6ZTA4	TRI67_HUMAN	P	498;498;436;498	ENSP00000412124:Q498P;ENSP00000355612:Q498P;ENSP00000400163:Q436P;ENSP00000355613:Q498P	ENSP00000355612:Q498P	Q	+	2	0	TRIM67	229403845	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.262000	0.72514	0.313000	0.23062	0.454000	0.30748	CAG		0.572	TRIM67-001	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000092649.3	NM_001004342		5	19	0	0	0	1	0	5	19					C	231337222	A	C	231337222	3	2	134	1	0	0	0	0	1	0	0	0	16537	188	7	5	1511	5	TRIM67	1	231337222	Missense_Mutation	SNP	A	TCGA-EJ-A8FN-01A-11D-A34U-08	32658356	231337222	17913399	6	6827											
LMAN2L	81562	broad.mit.edu	37	chr2	97377673	97377673	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgcggacaatggctgtgcaGcctcccagctctgtaggccg	6	9	13	13	2	1	0	0	0	1	0	2	1	2	1	3	3	4	4	3	3	2	2			TCGA-EJ-A8FN-01A-11D-A34U-08	TCGA-EJ-A8FN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4526e2b2-d20d-4290-baf5-8d331fce6902	626f7f57-e6e8-4413-8a05-942c859a6d61	g.chr2:97377673G>A	ENST00000264963.4	-	5	619	c.597C>T	c.(595-597)ggC>ggT	p.G199G	LMAN2L_ENST00000537039.1_Silent_p.G61G|LMAN2L_ENST00000377079.4_Silent_p.G210G|LMAN2L_ENST00000426463.2_Silent_p.G65G|LMAN2L_ENST00000534882.1_Silent_p.G54G	NM_030805.3	NP_110432.1	Q9H0V9	LMA2L_HUMAN	lectin, mannose-binding 2-like	199	L-type lectin-like. {ECO:0000255|PROSITE- ProRule:PRU00658}.				ER to Golgi vesicle-mediated transport (GO:0006888)|protein folding (GO:0006457)|protein transport (GO:0015031)	endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle (GO:0030134)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	mannose binding (GO:0005537)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(1)|lung(2)|skin(1)|urinary_tract(1)	7						TGGCTGTGCAGCCTCCCAGCT	0.557																																						ENST00000264963.4																			0				NS(1)|breast(1)|endometrium(1)|lung(2)|skin(1)|urinary_tract(1)	7						c.(595-597)ggC>ggT		lectin, mannose-binding 2-like							92	75	81					2																	97377673		2203	4300	6503	SO:0001819	synonymous_variant	81562				ER to Golgi vesicle-mediated transport|protein folding|protein transport	endoplasmic reticulum membrane|ER to Golgi transport vesicle|Golgi membrane|integral to membrane	mannose binding|metal ion binding	g.chr2:97377673G>A	AL136617	CCDS2023.1, CCDS46365.1	2q11.1	2008-02-05			ENSG00000114988	ENSG00000114988			19263	protein-coding gene	gene with protein product		609552				12609988	Standard	NM_001142292		Approved	DKFZp564L2423, VIPL	uc002swv.3	Q9H0V9	OTTHUMG00000130453	ENST00000264963.4:c.597C>T	2.37:g.97377673G>A						LMAN2L_ENST00000534882.1_Silent_p.G54G|LMAN2L_ENST00000377079.4_Silent_p.G210G|LMAN2L_ENST00000426463.2_Silent_p.G65G|LMAN2L_ENST00000537039.1_Silent_p.G61G	p.G199G	NM_030805.3	NP_110432.1	Q9H0V9	LMA2L_HUMAN			5	619	-			199			L-type lectin-like.		B4DSH3|D3DXH6|Q53GV3|Q53S67|Q63HN6|Q8NBQ6|Q9BQ14	Silent	SNP	ENST00000264963.4	37	c.597C>T	CCDS2023.1																																																																																				0.557	LMAN2L-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000252844.1	NM_030805		11	46	0	0	0	1	0	11	46					A	97377673	G	A	97377673	2	1	134	1	0	0	0	0	0	0	0	1	8839	958	34	3		3	LMAN2L	2	97377673	Silent	SNP	G	TCGA-EJ-A8FN-01A-11D-A34U-08		97377673	145821700	7	6828											
DPP10	57628	broad.mit.edu	37	chr2	116066820	116066820	+	Silent	SNP	G	G	T																															tttctatctcggtaggaactGggaagtaacagccctccaca																										TCGA-EJ-A8FN-01A-11D-A34U-08	TCGA-EJ-A8FN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4526e2b2-d20d-4290-baf5-8d331fce6902	626f7f57-e6e8-4413-8a05-942c859a6d61	g.chr2:116066820G>T	ENST00000410059.1	+	2	546	c.66G>T	c.(64-66)ctG>ctT	p.L22L	DPP10_ENST00000409163.1_5'UTR|DPP10_ENST00000310323.8_Silent_p.L15L|DPP10_ENST00000393147.2_Silent_p.L26L	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919	Q8N608	DPP10_HUMAN	dipeptidyl-peptidase 10 (non-functional)	22	Mediates effects on KCND2.					integral component of membrane (GO:0016021)|membrane (GO:0016020)	serine-type peptidase activity (GO:0008236)			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						GGTAGGAACTGGGAAGTAACA	0.393																																						ENST00000410059.1																			0				breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						c.(64-66)ctG>ctT		dipeptidyl-peptidase 10 (non-functional)							165	152	157					2																	116066820		2203	4300	6503	SO:0001819	synonymous_variant	57628				proteolysis	integral to membrane|membrane fraction	serine-type peptidase activity	g.chr2:116066820G>T	AY172661	CCDS33278.1, CCDS46400.1, CCDS54388.1, CCDS54389.1	2q14.1	2010-05-04	2010-05-04		ENSG00000175497	ENSG00000175497			20823	protein-coding gene	gene with protein product		608209	"dipeptidylpeptidase 10", "dipeptidyl-peptidase 10"			10819331, 12662155	Standard	NM_020868		Approved	DPRP3	uc002tle.3	Q8N608	OTTHUMG00000153294	ENST00000410059.1:c.66G>T	2.37:g.116066820G>T						DPP10_ENST00000393147.2_Silent_p.L26L|DPP10_ENST00000409163.1_5'UTR|DPP10_ENST00000310323.8_Silent_p.L15L	p.L22L	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919.2	Q8N608	DPP10_HUMAN			2	546	+			22			Mediates effects on KCND2.		A8K1Q2|J3KPP2|J3KQ46|Q0GLB8|Q53QT3|Q53S86|Q53SL8|Q53SS4|Q6TTV4|Q86YR9|Q9P236	Silent	SNP	ENST00000410059.1	37	c.66G>T	CCDS46400.1																																																																																				0.393	DPP10-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000330580.4	NM_020868		14	32	1	0	7.93312e-07	1	8.2216e-07	14	32					T	116066820	G	T	116066820	2	4	134	1	0	0	0	0	0	0	0	1	4727	1335	47	5		5	DPP10	2	116066820	Silent	SNP	G	TCGA-EJ-A8FN-01A-11D-A34U-08	18689147	116066820	127132553	8	6829	40	2									
DPP10	57628	broad.mit.edu	37	chr2	116066821	116066821	+	Nonsense_Mutation	SNP	G	G	T																															ttctatctcggtaggaactgGgaagtaacagccctccacag																										TCGA-EJ-A8FN-01A-11D-A34U-08	TCGA-EJ-A8FN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4526e2b2-d20d-4290-baf5-8d331fce6902	626f7f57-e6e8-4413-8a05-942c859a6d61	g.chr2:116066821G>T	ENST00000410059.1	+	2	547	c.67G>T	c.(67-69)Gga>Tga	p.G23*	DPP10_ENST00000409163.1_5'UTR|DPP10_ENST00000310323.8_Nonsense_Mutation_p.G16*|DPP10_ENST00000393147.2_Nonsense_Mutation_p.G27*	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919	Q8N608	DPP10_HUMAN	dipeptidyl-peptidase 10 (non-functional)	23	Mediates effects on KCND2.					integral component of membrane (GO:0016021)|membrane (GO:0016020)	serine-type peptidase activity (GO:0008236)			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						GTAGGAACTGGGAAGTAACAG	0.393																																						ENST00000410059.1																			0				breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						c.(67-69)Gga>Tga		dipeptidyl-peptidase 10 (non-functional)							169	155	160					2																	116066821		2203	4300	6503	SO:0001587	stop_gained	57628				proteolysis	integral to membrane|membrane fraction	serine-type peptidase activity	g.chr2:116066821G>T	AY172661	CCDS33278.1, CCDS46400.1, CCDS54388.1, CCDS54389.1	2q14.1	2010-05-04	2010-05-04		ENSG00000175497	ENSG00000175497			20823	protein-coding gene	gene with protein product		608209	"dipeptidylpeptidase 10", "dipeptidyl-peptidase 10"			10819331, 12662155	Standard	NM_020868		Approved	DPRP3	uc002tle.3	Q8N608	OTTHUMG00000153294	ENST00000410059.1:c.67G>T	2.37:g.116066821G>T	ENSP00000386565:p.Gly23*					DPP10_ENST00000393147.2_Nonsense_Mutation_p.G27*|DPP10_ENST00000409163.1_5'UTR|DPP10_ENST00000310323.8_Nonsense_Mutation_p.G16*	p.G23*	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919.2	Q8N608	DPP10_HUMAN			2	547	+			23			Mediates effects on KCND2.		A8K1Q2|J3KPP2|J3KQ46|Q0GLB8|Q53QT3|Q53S86|Q53SL8|Q53SS4|Q6TTV4|Q86YR9|Q9P236	Nonsense_Mutation	SNP	ENST00000410059.1	37	c.67G>T	CCDS46400.1	.	.	.	.	.	.	.	.	.	.	G	40	8.510064	0.98843	.	.	ENSG00000175497	ENST00000410059;ENST00000393146;ENST00000393147;ENST00000310323	.	.	.	5.6	5.6	0.85130	.	0.067792	0.64402	D	0.000019	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.52906	T	0.07	-9.7656	18.602	0.91250	0.0:0.0:1.0:0.0	.	.	.	.	X	23;19;27;16	.	ENSP00000309066:G16X	G	+	1	0	DPP10	115783291	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.238000	0.95380	2.643000	0.89663	0.655000	0.94253	GGA		0.393	DPP10-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000330580.4	NM_020868		15	32	1	0	1.3612e-06	1	1.38551e-06	15	32					T	116066821	G	T	116066821	4	4	134	1	0	0	0	0	0	1	0	0	4727	1233	43	5	244	5	DPP10	2	116066821	Nonsense_Mutation	SNP	G	TCGA-EJ-A8FN-01A-11D-A34U-08	1	116066821	127132552	9	6830	40	2									
DNAH7	56171	broad.mit.edu	37	chr2	196689149	196689149	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	caaaataggatctagttcttCgccaacattttctagcaaca	14	12	5	10	1	3	0	0	0	3	0	4	1	3	1	1	1	3	2	1	1	7	7			TCGA-EJ-A8FN-01A-11D-A34U-08	TCGA-EJ-A8FN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4526e2b2-d20d-4290-baf5-8d331fce6902	626f7f57-e6e8-4413-8a05-942c859a6d61	g.chr2:196689149C>T	ENST00000312428.6	-	49	9221	c.9121G>A	c.(9121-9123)Gaa>Aaa	p.E3041K		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	3041	AAA 5. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)	axonemal dynein complex (GO:0005858)|cilium (GO:0005929)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|microtubule motor activity (GO:0003777)			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						TCTAGTTCTTCGCCAACATTT	0.348																																						ENST00000312428.6																			0				NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						c.(9121-9123)Gaa>Aaa		dynein, axonemal, heavy chain 7							124	114	117					2																	196689149		1822	4079	5901	SO:0001583	missense	56171				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr2:196689149C>T	AF327442	CCDS42794.1	2q33.1	2013-01-10	2006-09-04		ENSG00000118997	ENSG00000118997		"Axonemal dyneins", "EF-hand domain containing"	18661	protein-coding gene	gene with protein product		610061	"dynein, axonemal, heavy polypeptide 7"			9373155, 11877439	Standard	NM_018897		Approved	KIAA0944	uc002utj.4	Q8WXX0	OTTHUMG00000154438	ENST00000312428.6:c.9121G>A	2.37:g.196689149C>T	ENSP00000311273:p.Glu3041Lys						p.E3041K	NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN			49	9221	-			3041			AAA 5 (By similarity).		B8ZZX8|O00433|O95492|Q4G152|Q53QX7|Q53S64|Q53T02|Q68CY5|Q8N1Z2|Q9UMS3|Q9Y2F3	Missense_Mutation	SNP	ENST00000312428.6	37	c.9121G>A	CCDS42794.1	.	.	.	.	.	.	.	.	.	.	C	17.78	3.473197	0.63737	.	.	ENSG00000118997	ENST00000312428	T	0.31247	1.5	4.97	4.97	0.65823	.	0.053821	0.64402	D	0.000001	T	0.73353	0.3576	H	0.98951	4.38	0.80722	D	1	D	0.89917	1.0	D	0.75484	0.986	D	0.85034	0.0919	10	0.87932	D	0	.	18.3781	0.90441	0.0:1.0:0.0:0.0	.	3041	Q8WXX0	DYH7_HUMAN	K	3041	ENSP00000311273:E3041K	ENSP00000311273:E3041K	E	-	1	0	DNAH7	196397394	1.000000	0.71417	0.999000	0.59377	0.138000	0.21146	7.475000	0.81041	2.740000	0.93945	0.650000	0.86243	GAA		0.348	DNAH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335202.3	NM_018897		6	64	0	0	0	1	0	6	64					T	196689149	C	T	196689149	3	4	134	1	0	0	0	0	1	0	0	0	4606	893	31	2	3021	2	DNAH7	2	196689149	Missense_Mutation	SNP	C	TCGA-EJ-A8FN-01A-11D-A34U-08	80622328	196689149	46510224	10	6831											
LIMD1	8994	broad.mit.edu	37	chr3	45637533	45637533	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccaagctcagccccaccagtCttgtccatccagtgatgtcc	8	9	7	17	0	2	1	1	1	1	0	5	1	5	1	7	0	2	1	7	0	1	1			TCGA-EJ-A8FN-01A-11D-A34U-08	TCGA-EJ-A8FN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4526e2b2-d20d-4290-baf5-8d331fce6902	626f7f57-e6e8-4413-8a05-942c859a6d61	g.chr3:45637533C>T	ENST00000273317.4	+	1	1183	c.1162C>T	c.(1162-1164)Ctt>Ttt	p.L388F	LIMD1_ENST00000465039.1_Intron|LIMD1_ENST00000440097.1_Missense_Mutation_p.L388F	NM_014240.2	NP_055055.1	Q9UGP4	LIMD1_HUMAN	LIM domains containing 1	388					cell migration (GO:0016477)|cytoplasmic mRNA processing body assembly (GO:0033962)|cytoskeleton organization (GO:0007010)|gene silencing by miRNA (GO:0035195)|multicellular organismal development (GO:0007275)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of hippo signaling (GO:0035331)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of transcription, DNA-templated (GO:0045892)|osteoblast development (GO:0002076)|phosphorylation (GO:0016310)|positive regulation of gene silencing by miRNA (GO:2000637)|regulation of cell shape (GO:0008360)|regulation of transcription, DNA-templated (GO:0006355)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	adherens junction (GO:0005912)|cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|RISC complex (GO:0016442)	transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)	10				BRCA - Breast invasive adenocarcinoma(193;0.011)|KIRC - Kidney renal clear cell carcinoma(197;0.0264)|Kidney(197;0.0315)		CCCCACCAGTCTTGTCCATCC	0.612																																						ENST00000273317.4																			0				endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)	10						c.(1162-1164)Ctt>Ttt		LIM domains containing 1							79	75	76					3																	45637533		2203	4300	6503	SO:0001583	missense	8994				cytoplasmic mRNA processing body assembly|gene silencing by miRNA|multicellular organismal development|negative regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	cytoplasmic mRNA processing body|nucleus|RNA-induced silencing complex	protein binding|zinc ion binding	g.chr3:45637533C>T	AJ132408	CCDS2729.1	3p21.31	2008-02-01			ENSG00000144791	ENSG00000144791			6612	protein-coding gene	gene with protein product		604543				10647888	Standard	NM_014240		Approved		uc003coq.3	Q9UGP4	OTTHUMG00000133453	ENST00000273317.4:c.1162C>T	3.37:g.45637533C>T	ENSP00000273317:p.Leu388Phe					LIMD1_ENST00000465039.1_Intron|LIMD1_ENST00000440097.1_Missense_Mutation_p.L388F	p.L388F	NM_014240.2	NP_055055.1	Q9UGP4	LIMD1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.011)|KIRC - Kidney renal clear cell carcinoma(197;0.0264)|Kidney(197;0.0315)	1	1183	+			388					Q17RQ1|Q9BQQ9|Q9NQ47	Missense_Mutation	SNP	ENST00000273317.4	37	c.1162C>T	CCDS2729.1	.	.	.	.	.	.	.	.	.	.	C	12.41	1.928162	0.34002	.	.	ENSG00000144791	ENST00000440097;ENST00000273317	T;T	0.58358	0.34;0.54	4.73	2.85	0.33270	.	2.357600	0.01347	N	0.011773	T	0.35128	0.0921	N	0.19112	0.55	0.09310	N	1	B	0.09022	0.002	B	0.08055	0.003	T	0.24693	-1.0153	10	0.09590	T	0.72	.	3.8765	0.09059	0.1748:0.5784:0.1575:0.0894	.	388	Q9UGP4	LIMD1_HUMAN	F	388	ENSP00000394537:L388F;ENSP00000273317:L388F	ENSP00000273317:L388F	L	+	1	0	LIMD1	45612537	0.001000	0.12720	0.277000	0.24703	0.993000	0.82548	1.006000	0.29847	0.915000	0.36847	0.655000	0.94253	CTT		0.612	LIMD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257327.1	NM_014240		14	20	0	0	0	1	0	14	20					T	45637533	C	T	45637533	3	4	134	1	0	0	0	0	1	0	0	0	8798	913	32	3	1164	3	LIMD1	3	45637533	Missense_Mutation	SNP	C	TCGA-EJ-A8FN-01A-11D-A34U-08		45637533	152384897	11	6832											
IMPDH2	54870	broad.mit.edu	37	chr3	49065748	49065748	+	IGR	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ggtggatgaagccaataccgCctgtaagctacaggataaaa	15	7	11	8	1	0	1	0	1	0	0	0	3	0	3	3	3	4	2	3	3	7	4			TCGA-EJ-A8FN-01A-11D-A34U-08	TCGA-EJ-A8FN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4526e2b2-d20d-4290-baf5-8d331fce6902	626f7f57-e6e8-4413-8a05-942c859a6d61	g.chr3:49065748C>T	ENST00000395443.2	-	0	3549				RP13-131K19.6_ENST00000607245.1_RNA|IMPDH2_ENST00000326739.4_Missense_Mutation_p.G86D	NM_198880.1	NP_942581.1	Q2TAL8	QRIC1_HUMAN	glutamine-rich 1							nucleus (GO:0005634)				breast(2)|endometrium(5)|large_intestine(8)|lung(8)|ovary(1)|skin(1)	25				BRCA - Breast invasive adenocarcinoma(193;8.88e-05)|Kidney(197;0.00239)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)		GCCAATACCGCCTGTAAGCTA	0.493																																						ENST00000326739.4																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(2)|stomach(1)|urinary_tract(1)	16						c.(256-258)gGc>gAc		IMP (inosine 5'-monophosphate) dehydrogenase 2	Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|NADH(DB00157)						85	79	81					3																	49065748		2203	4300	6503	SO:0001628	intergenic_variant	3615				GMP biosynthetic process|purine base metabolic process	cytosol|nucleus	IMP dehydrogenase activity|metal ion binding|nucleotide binding|protein binding	g.chr3:49065748C>T		CCDS2787.1	3p21.31	2011-06-03			ENSG00000198218	ENSG00000198218			24713	protein-coding gene	gene with protein product						12477932	Standard	NM_017730		Approved	FLJ20259	uc003cvv.3	Q2TAL8	OTTHUMG00000156772		3.37:g.49065748C>T							p.G86D	NM_000884.2	NP_000875.2	P12268	IMDH2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	4	296	-			86					Q4G0F7|Q7L621|Q8TEA5	Missense_Mutation	SNP	ENST00000395443.2	37	c.257G>A	CCDS2787.1	.	.	.	.	.	.	.	.	.	.	C	37	6.633421	0.97722	.	.	ENSG00000178035	ENST00000537036;ENST00000326739	D	0.83673	-1.75	6.08	6.08	0.98989	Aldolase-type TIM barrel (1);IMP dehydrogenase/GMP reductase (1);	0.000000	0.85682	D	0.000000	D	0.95162	0.8432	H	0.97918	4.105	0.80722	D	1	D	0.76494	0.999	D	0.81914	0.995	D	0.96045	0.9027	10	0.87932	D	0	-19.8807	20.6634	0.99662	0.0:1.0:0.0:0.0	.	86	P12268	IMDH2_HUMAN	D	86	ENSP00000321584:G86D	ENSP00000321584:G86D	G	-	2	0	IMPDH2	49040752	1.000000	0.71417	0.884000	0.34674	0.721000	0.41392	7.710000	0.84655	2.894000	0.99253	0.655000	0.94253	GGC		0.493	QRICH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345669.1	NM_017730		8	61	0	0	0	1	0	8	61					T	49065748	C	T	49065748	1	4	134	0	1	0	0	0	0	0	0	0	7727	739	26	3		3	IMPDH2	3	49065748	IGR	SNP	C	TCGA-EJ-A8FN-01A-11D-A34U-08	3428215	49065748	148956682	12	6833											
TGFBI	7045	broad.mit.edu	37	chr5	135382985	135382985	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgtaactgtgaactgtgcccGgctgctgaaagccgaccacc	9	8	11	13	2	0	2	0	2	0	0	0	3	0	2	4	1	5	3	4	1	3	1	rs373585898		TCGA-EJ-A8FN-01A-11D-A34U-08	TCGA-EJ-A8FN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4526e2b2-d20d-4290-baf5-8d331fce6902	626f7f57-e6e8-4413-8a05-942c859a6d61	g.chr5:135382985G>A	ENST00000442011.2	+	6	808	c.647G>A	c.(646-648)cGg>cAg	p.R216Q	TGFBI_ENST00000305126.8_Missense_Mutation_p.R216Q	NM_000358.2	NP_000349.1	Q15582	BGH3_HUMAN	transforming growth factor, beta-induced, 68kDa	216	FAS1 1. {ECO:0000255|PROSITE- ProRule:PRU00082}.				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|chondrocyte differentiation (GO:0002062)|extracellular matrix organization (GO:0030198)|negative regulation of cell adhesion (GO:0007162)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	collagen binding (GO:0005518)|extracellular matrix binding (GO:0050840)|integrin binding (GO:0005178)			breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			AACTGTGCCCGGCTGCTGAAA	0.532																																						ENST00000442011.2																			0				breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32						c.(646-648)cGg>cAg		transforming growth factor, beta-induced, 68kDa							116	112	113					5																	135382985		2073	4216	6289	SO:0001583	missense	7045				angiogenesis|cell adhesion|cell proliferation|negative regulation of cell adhesion|response to stimulus|visual perception	extracellular space|proteinaceous extracellular matrix	integrin binding	g.chr5:135382985G>A	M77349	CCDS47266.1	5q31	2008-02-05	2002-08-29		ENSG00000120708	ENSG00000120708			11771	protein-coding gene	gene with protein product		601692	"transforming growth factor, beta-induced, 68kD"	CSD3, LCD1, CSD1, CSD2		9463327	Standard	NM_000358		Approved	BIGH3, CDB1, CDGG1	uc003lbf.4	Q15582	OTTHUMG00000163213	ENST00000442011.2:c.647G>A	5.37:g.135382985G>A	ENSP00000416330:p.Arg216Gln					TGFBI_ENST00000305126.8_Missense_Mutation_p.R216Q	p.R216Q	NM_000358.2	NP_000349.1	Q15582	BGH3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)		6	808	+			216			FAS1 1.		D3DQB1|O14471|O14472|O14476|O43216|O43217|O43218|O43219|Q53XM1	Missense_Mutation	SNP	ENST00000442011.2	37	c.647G>A	CCDS47266.1	.	.	.	.	.	.	.	.	.	.	G	36	5.907549	0.97093	.	.	ENSG00000120708	ENST00000442011;ENST00000305126	D;D	0.91068	-2.78;-2.78	6.04	6.04	0.98038	FAS1 domain (5);	0.000000	0.85682	D	0.000000	D	0.94902	0.8352	M	0.64404	1.975	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	D	0.94281	0.7520	10	0.62326	D	0.03	-5.3662	20.5792	0.99380	0.0:0.0:1.0:0.0	.	216	Q15582	BGH3_HUMAN	Q	216	ENSP00000416330:R216Q;ENSP00000306306:R216Q	ENSP00000306306:R216Q	R	+	2	0	TGFBI	135410884	1.000000	0.71417	1.000000	0.80357	0.892000	0.51952	9.869000	0.99810	2.873000	0.98535	0.561000	0.74099	CGG		0.532	TGFBI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372108.1			21	78	0	0	0	1	0	21	78					A	135382985	G	A	135382985	3	1	134	1	0	0	0	0	1	0	0	0	15817	1116	39	2	669	2	TGFBI	5	135382985	Missense_Mutation	SNP	G	TCGA-EJ-A8FN-01A-11D-A34U-08		135382985	45532275	13	6834											
SGCD	6444	broad.mit.edu	37	chr5	156186353	156186353	+	Frame_Shift_Del	DEL	G	G	-																															gggagattattcctgtctcaGgcaggagctgggtccacttg																										TCGA-EJ-A8FN-01A-11D-A34U-08	TCGA-EJ-A8FN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4526e2b2-d20d-4290-baf5-8d331fce6902	626f7f57-e6e8-4413-8a05-942c859a6d61	g.chr5:156186353delG	ENST00000435422.3	+	8	1309	c.822delG	c.(820-822)cagfs	p.Q274fs	SGCD_ENST00000337851.4_Frame_Shift_Del_p.Q275fs	NM_001128209.1	NP_001121681.1	Q92629	SGCD_HUMAN	sarcoglycan, delta (35kDa dystrophin-associated glycoprotein)	274					muscle organ development (GO:0007517)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dystrophin-associated glycoprotein complex (GO:0016010)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sarcoglycan complex (GO:0016012)|sarcolemma (GO:0042383)				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(16)|prostate(1)	24	Renal(175;0.00488)	Medulloblastoma(196;0.0378)|all_neural(177;0.106)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TCCTGTCTCAGGCAGGAGCTG	0.502																																						ENST00000435422.3																			0				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(16)|prostate(1)	24						c.(820-822)cafs		sarcoglycan, delta (35kDa dystrophin-associated glycoprotein)							134	128	130					5																	156186353		1968	4165	6133	SO:0001589	frameshift_variant	6444				cytoskeleton organization|muscle organ development	cytoplasm|cytoskeleton|integral to membrane|sarcoglycan complex|sarcolemma		g.chr5:156186353delG	BX537948	CCDS47325.1, CCDS47326.1, CCDS47327.1	5q33-q34	2014-09-17	2002-08-29						10807	protein-coding gene	gene with protein product		601411	"sarcoglycan, delta (35kD dystrophin-associated glycoprotein)"			8776597, 8841194, 10974018	Standard	NM_000337		Approved	DAGD, LGMD2F, CMD1L	uc003lwd.4	Q92629		ENST00000435422.3:c.822delG	5.37:g.156186353delG	ENSP00000403003:p.Gln274fs					SGCD_ENST00000337851.4_Frame_Shift_Del_p.Q275fs	p.Q274fs	NM_001128209.1	NP_001121681.1	Q92629	SGCD_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		8	1309	+	Renal(175;0.00488)	Medulloblastoma(196;0.0378)|all_neural(177;0.106)	274					A8K9S9|Q53XA5|Q99644	Frame_Shift_Del	DEL	ENST00000435422.3	37	c.822delG	CCDS47327.1																																																																																				0.502	SGCD-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000373469.3			9	157						9	157	---	---	---	---	-	156186353	G	-	156186353	7	5	134	1	0	1	0	1	0	0	0	0	14201	991	35	0	927	0	SGCD	5	156186353	Frame_Shift_Del	DEL	G	TCGA-EJ-A8FN-01A-11D-A34U-08	20803368	156186353	24728907	14	6835											
COL11A2	1302	broad.mit.edu	37	chr6	33132638	33132638	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagctctcacctgcgtgacGtcatccctaggcgtcacaca	8	8	8	17	3	3	1	3	1	1	0	5	1	4	1	3	1	2	1	3	1	1	1	rs151319255	byFrequency	TCGA-EJ-A8FN-01A-11D-A34U-08	TCGA-EJ-A8FN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4526e2b2-d20d-4290-baf5-8d331fce6902	626f7f57-e6e8-4413-8a05-942c859a6d61	g.chr6:33132638G>A	ENST00000374708.4	-	62	4854	c.4596C>T	c.(4594-4596)gaC>gaT	p.D1532D	COL11A2_ENST00000374712.1_Silent_p.D1537D|COL11A2_ENST00000361917.1_Silent_p.D1511D|COL11A2_ENST00000357486.1_Silent_p.D1597D|COL11A2_ENST00000374714.1_Silent_p.D1592D|COL11A2_ENST00000341947.2_Silent_p.D1618D|COL11A2_ENST00000477772.1_5'UTR|COL11A2_ENST00000395197.1_Silent_p.D1558D|COL11A2_ENST00000374713.1_Silent_p.D1571D	NM_080681.2	NP_542412.2	P13942	COBA2_HUMAN	collagen, type XI, alpha 2	1618					cartilage development (GO:0051216)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|palate development (GO:0060021)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|soft palate development (GO:0060023)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)	p.D1618D(1)|p.D1618E(1)		biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						CCTGCGTGACGTCATCCCTAG	0.622													G|||	2	0.000399361	0	0	5008	,	,		14507	0		0	False		,,,				2504	0.002				Melanoma(1;90 116 3946 5341 17093)	ENST00000341947.2																			2	Substitution - Missense(1)|Substitution - coding silent(1)	p.D1618D(1)|p.D1618E(1)	ovary(1)|prostate(1)	biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						c.(4852-4854)gaC>gaT		collagen, type XI, alpha 2							62	55	57					6																	33132638		2201	4291	6492	SO:0001819	synonymous_variant	1302				cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development	collagen type XI	extracellular matrix structural constituent conferring tensile strength|protein binding, bridging	g.chr6:33132638G>A	U32169	CCDS43452.1, CCDS54992.1	6p21.3	2013-01-16			ENSG00000204248	ENSG00000204248		"Collagens"	2187	protein-coding gene	gene with protein product		120290		DFNA13, DFNB53		7559422, 10581026	Standard	NM_080679		Approved	HKE5	uc003ocx.1	P13942	OTTHUMG00000031036	ENST00000374708.4:c.4596C>T	6.37:g.33132638G>A						COL11A2_ENST00000395197.1_Silent_p.D1558D|COL11A2_ENST00000361917.1_Silent_p.D1511D|COL11A2_ENST00000374708.4_Silent_p.D1532D|COL11A2_ENST00000374714.1_Silent_p.D1592D|COL11A2_ENST00000477772.1_5'UTR|COL11A2_ENST00000374712.1_Silent_p.D1537D|COL11A2_ENST00000374713.1_Silent_p.D1571D|COL11A2_ENST00000357486.1_Silent_p.D1597D	p.D1618D	NM_080680.2	NP_542411.2	P13942	COBA2_HUMAN			64	5081	-			1618			Fibrillar collagen NC1.		A6NLX2|E7ER90|Q07751|Q13271|Q13272|Q13273|Q5JP94|Q5SUI8|Q7Z6C3|Q99866|Q9UIP9	Silent	SNP	ENST00000374708.4	37	c.4854C>T	CCDS43452.1																																																																																				0.622	COL11A2-001	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000076032.2			3	9	0	0	0	1	0	3	9					A	33132638	G	A	33132638	2	1	134	1	0	0	0	0	0	0	0	1	3668	1136	40	1		1	COL11A2	6	33132638	Silent	SNP	G	TCGA-EJ-A8FN-01A-11D-A34U-08		33132638	137982429	15	6836											
PACSIN1	29993	broad.mit.edu	37	chr6	34499460	34499460	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cccctttgggggcagtgagaCcaacgggggcgccaacccct	7	5	14	15	2	0	1	0	1	0	1	0	2	0	1	6	4	2	1	6	4	2	1			TCGA-EJ-A8FN-01A-11D-A34U-08	TCGA-EJ-A8FN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4526e2b2-d20d-4290-baf5-8d331fce6902	626f7f57-e6e8-4413-8a05-942c859a6d61	g.chr6:34499460C>A	ENST00000538621.1	+	9	1366	c.1121C>A	c.(1120-1122)aCc>aAc	p.T374N	PACSIN1_ENST00000244458.2_Missense_Mutation_p.T374N|PACSIN1_ENST00000374043.2_Missense_Mutation_p.T332N	NM_001199583.2	NP_001186512.1	Q9BY11	PACN1_HUMAN	protein kinase C and casein kinase substrate in neurons 1	374					actin filament organization (GO:0007015)|establishment of protein localization to plasma membrane (GO:0090002)|membrane tubulation (GO:0097320)|neuron projection morphogenesis (GO:0048812)|positive regulation of dendrite development (GO:1900006)|protein localization to membrane (GO:0072657)|synaptic vesicle endocytosis (GO:0048488)	axon terminus (GO:0043679)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|synapse (GO:0045202)	phospholipid binding (GO:0005543)			endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)	13						GGCAGTGAGACCAACGGGGGC	0.627																																						ENST00000538621.1																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)	13						c.(1120-1122)aCc>aAc		protein kinase C and casein kinase substrate in neurons 1							93	99	97					6																	34499460		2203	4300	6503	SO:0001583	missense	0				endocytosis		protein kinase activity	g.chr6:34499460C>A	AB037800	CCDS4793.1	6p21.3	2008-02-05			ENSG00000124507	ENSG00000124507			8570	protein-coding gene	gene with protein product	"syndapin I"	606512				11179684	Standard	NM_020804		Approved	SDPI	uc003ojp.4	Q9BY11	OTTHUMG00000014547	ENST00000538621.1:c.1121C>A	6.37:g.34499460C>A	ENSP00000439639:p.Thr374Asn					PACSIN1_ENST00000244458.2_Missense_Mutation_p.T374N|PACSIN1_ENST00000374043.2_Missense_Mutation_p.T332N	p.T374N	NM_001199583.1	NP_001186512.1	Q9BY11	PACN1_HUMAN			9	1366	+			374					Q9P2G8	Missense_Mutation	SNP	ENST00000538621.1	37	c.1121C>A	CCDS4793.1	.	.	.	.	.	.	.	.	.	.	C	16.36	3.101301	0.56183	.	.	ENSG00000124507	ENST00000244458;ENST00000374043;ENST00000436831;ENST00000538621	T;T;T	0.22743	1.94;1.94;1.94	4.94	4.07	0.47477	.	0.302472	0.36101	N	0.002789	T	0.06371	0.0164	L	0.29908	0.895	0.33764	D	0.62221	B	0.02656	0.0	B	0.01281	0.0	T	0.18209	-1.0344	10	0.18710	T	0.47	-16.1111	14.4315	0.67254	0.1485:0.8515:0.0:0.0	.	374	Q9BY11	PACN1_HUMAN	N	374;332;374;374	ENSP00000244458:T374N;ENSP00000363155:T332N;ENSP00000439639:T374N	ENSP00000244458:T374N	T	+	2	0	PACSIN1	34607438	1.000000	0.71417	0.998000	0.56505	0.923000	0.55619	5.666000	0.68059	1.304000	0.44892	0.561000	0.74099	ACC		0.627	PACSIN1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040236.1			13	148	1	0	9.05144e-12	1	9.73457e-12	13	148					A	34499460	C	A	34499460	3	1	134	1	0	0	0	0	1	0	0	0	11374	507	18	5	1151	5	PACSIN1	6	34499460	Missense_Mutation	SNP	C	TCGA-EJ-A8FN-01A-11D-A34U-08	1366822	34499460	136615607	16	6837											
DAGLB	221955	broad.mit.edu	37	chr7	6449551	6449551	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaccacgctgtccaaggcccGcatcaggatgtctggcatgt	8	8	12	13	2	2	0	1	0	1	0	3	2	3	1	3	3	0	3	3	3	1	0	rs138713047	byFrequency	TCGA-EJ-A8FN-01A-11D-A34U-08	TCGA-EJ-A8FN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4526e2b2-d20d-4290-baf5-8d331fce6902	626f7f57-e6e8-4413-8a05-942c859a6d61	g.chr7:6449551G>A	ENST00000297056.6	-	15	2105	c.1936C>T	c.(1936-1938)Cgg>Tgg	p.R646W	DAGLB_ENST00000425398.2_Missense_Mutation_p.R517W|DAGLB_ENST00000436575.1_Missense_Mutation_p.R605W	NM_139179.3	NP_631918.3	Q8NCG7	DGLB_HUMAN	diacylglycerol lipase, beta	646					arachidonic acid metabolic process (GO:0019369)|blood coagulation (GO:0007596)|lipid catabolic process (GO:0016042)|neuroblast proliferation (GO:0007405)|neurotransmitter biosynthetic process (GO:0042136)|platelet activation (GO:0030168)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)	p.R646W(1)		breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|urinary_tract(2)	26		Ovarian(82;0.232)		UCEC - Uterine corpus endometrioid carcinoma (126;0.102)		TCCAAGGCCCGCATCAGGATG	0.587													G|||	4	0.000798722	0	0.0014	5008	,	,		19416	0		0.003	False		,,,				2504	0					ENST00000297056.6																			1	Substitution - Missense(1)	p.R646W(1)	lung(1)	breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|urinary_tract(2)	26						c.(1936-1938)Cgg>Tgg		diacylglycerol lipase, beta		G	TRP/ARG,TRP/ARG	0,4406		0,0,2203	118	112	114		1549,1936	-0.9	0.2	7	dbSNP_134	114	4,8596		0,4,4296	yes	missense,missense	DAGLB	NM_001142936.1,NM_139179.3	101,101	0,4,6499	AA,AG,GG		0.0465,0.0,0.0308	probably-damaging,probably-damaging	517/544,646/673	6449551	4,13002	2203	4300	6503	SO:0001583	missense	221955				lipid catabolic process|platelet activation	integral to membrane|plasma membrane	acylglycerol lipase activity|metal ion binding|triglyceride lipase activity	g.chr7:6449551G>A	AF450090	CCDS5350.1, CCDS47536.1	7p22.1	2008-03-18			ENSG00000164535	ENSG00000164535	3.1.1.-		28923	protein-coding gene	gene with protein product		614016					Standard	NM_139179		Approved	KCCR13L, DAGLBETA	uc003sqa.3	Q8NCG7	OTTHUMG00000125513	ENST00000297056.6:c.1936C>T	7.37:g.6449551G>A	ENSP00000297056:p.Arg646Trp					DAGLB_ENST00000436575.1_Missense_Mutation_p.R605W|DAGLB_ENST00000425398.2_Missense_Mutation_p.R517W	p.R646W	NM_139179.3	NP_631918.3	Q8NCG7	DGLB_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.102)	15	2105	-		Ovarian(82;0.232)	646					A4D2P3|B3KV90|B4DQU0|Q6PIX3|Q8N2N2|Q8N9S1|Q8TED3|Q8WXE6	Missense_Mutation	SNP	ENST00000297056.6	37	c.1936C>T	CCDS5350.1	2	9.157509157509158E-4	0	0.0	1	0.0027624309392265192	0	0.0	1	0.0013192612137203166	.	15.79	2.936977	0.52972	0.0	4.65E-4	ENSG00000164535	ENST00000297056;ENST00000425398;ENST00000436575	T;T;T	0.37584	1.19;1.19;1.19	5.79	-0.949	0.10376	.	0.310453	0.33005	N	0.005381	T	0.56688	0.2002	M	0.73598	2.24	0.24550	N	0.994027	D;D;D;D	0.89917	1.0;0.999;0.997;0.999	D;P;P;P	0.66847	0.947;0.739;0.65;0.798	T	0.61202	-0.7110	10	0.62326	D	0.03	-22.8734	17.4647	0.87629	0.0:0.0:0.6315:0.3685	.	517;460;646;343	B4DQU0;B4DQQ6;Q8NCG7;B3KRA0	.;.;DGLB_HUMAN;.	W	646;517;605	ENSP00000297056:R646W;ENSP00000391171:R517W;ENSP00000404785:R605W	ENSP00000297056:R646W	R	-	1	2	DAGLB	6416076	0.141000	0.22595	0.240000	0.24138	0.416000	0.31233	1.347000	0.33975	-0.397000	0.07691	-0.271000	0.10264	CGG		0.587	DAGLB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246840.2	NM_139179		4	117	0	0	0	1	0	4	117					A	6449551	G	A	6449551	3	1	134	1	0	0	0	0	1	0	0	0	4227	1086	38	1	86	1	DAGLB	7	6449551	Missense_Mutation	SNP	G	TCGA-EJ-A8FN-01A-11D-A34U-08		6449551	152689112	17	6838											
TWISTNB	221830	broad.mit.edu	37	chr7	19738113	19738113	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgaacttcctggtgctttttCttcttcttctttttctttgg	2	24	6	9	0	5	1	0	1	5	0	6	1	6	1	1	2	2	1	1	2	1	9	rs561305387	byFrequency	TCGA-EJ-A8FN-01A-11D-A34U-08	TCGA-EJ-A8FN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4526e2b2-d20d-4290-baf5-8d331fce6902	626f7f57-e6e8-4413-8a05-942c859a6d61	g.chr7:19738113C>T	ENST00000222567.5	-	4	913	c.843G>A	c.(841-843)aaG>aaA	p.K281K		NM_001002926.1	NP_001002926.1	Q3B726	RPA43_HUMAN	TWIST neighbor	281	Lys-rich.				transcription from RNA polymerase I promoter (GO:0006360)	DNA-directed RNA polymerase I complex (GO:0005736)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA-directed RNA polymerase activity (GO:0003899)			kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(2)	20						GGTGCTTTTTCTTCTTCTTCT	0.433																																						ENST00000222567.5																			0				kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(2)	20						c.(841-843)aaG>aaA		TWIST neighbor							237	261	253					7																	19738113		2203	4300	6503	SO:0001819	synonymous_variant	221830					microtubule cytoskeleton|nucleolus	DNA-directed RNA polymerase activity	g.chr7:19738113C>T	AK090846	CCDS34606.1	7p21.1	2010-08-05			ENSG00000105849	ENSG00000105849			18027	protein-coding gene	gene with protein product		608312				12438708	Standard	NM_001002926		Approved		uc003sup.1	Q3B726	OTTHUMG00000152497	ENST00000222567.5:c.843G>A	7.37:g.19738113C>T							p.K281K	NM_001002926.1	NP_001002926.1	Q3B726	RPA43_HUMAN			4	913	-			281			Lys-rich.		A0PJ45|B7Z724	Silent	SNP	ENST00000222567.5	37	c.843G>A	CCDS34606.1																																																																																				0.433	TWISTNB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326463.1			12	486	0	0	0	1	0	12	486					T	19738113	C	T	19738113	2	4	134	1	0	0	0	0	0	0	0	1	16781	912	32	3		3	TWISTNB	7	19738113	Silent	SNP	C	TCGA-EJ-A8FN-01A-11D-A34U-08	13288562	19738113	139400550	18	6839											
HOXA9	3205	broad.mit.edu	37	chr7	27204581	27204581	+	Nonsense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttcgctgggttgtttttctcTatcaactggaggagaaccac	8	14	10	9	1	2	1	1	0	1	1	4	3	2	2	1	3	2	3	1	3	3	5			TCGA-EJ-A8FN-01A-11D-A34U-08	TCGA-EJ-A8FN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4526e2b2-d20d-4290-baf5-8d331fce6902	626f7f57-e6e8-4413-8a05-942c859a6d61	g.chr7:27204581T>A	ENST00000343483.6	-	1	568	c.496A>T	c.(496-498)Aga>Tga	p.R166*	RP1-170O19.20_ENST00000470747.4_Nonsense_Mutation_p.R6*|HOXA9_ENST00000497089.1_Intron|RP1-170O19.20_ENST00000465941.1_Intron|HOXA9_ENST00000396345.1_3'UTR	NM_152739.3	NP_689952.1	P31269	HXA9_HUMAN	homeobox A9	166					endothelial cell activation (GO:0042118)|multicellular organismal development (GO:0007275)|negative regulation of myeloid cell differentiation (GO:0045638)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	enzyme binding (GO:0019899)|sequence-specific DNA binding (GO:0043565)			central_nervous_system(1)|endometrium(1)|lung(5)|prostate(1)	8						TGTTTTTCTCTATCAACTGGA	0.537			T	"NUP98, MSI2"	AML*																																	ENST00000343483.6				Dom	yes		7	7p15-p14.2	3205	T	homeo box A9			L	"NUP98, MSI2"		AML*		0				central_nervous_system(1)|endometrium(1)|lung(5)|prostate(1)	8						c.(496-498)Aga>Tga		homeobox A9							59	63	62					7																	27204581		2203	4300	6503	SO:0001587	stop_gained	3205						protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:27204581T>A		CCDS5409.1	7p15.2	2011-06-20	2005-12-22		ENSG00000078399	ENSG00000078399		"Homeoboxes / ANTP class : HOXL subclass"	5109	protein-coding gene	gene with protein product		142956	"homeo box A9"	HOX1G, HOX1		1973146, 1358459	Standard	NM_152739		Approved		uc003syt.3	P31269	OTTHUMG00000023220	ENST00000343483.6:c.496A>T	7.37:g.27204581T>A	ENSP00000343619:p.Arg166*					RP1-170O19.20_ENST00000470747.4_Nonsense_Mutation_p.R6*|HOXA9_ENST00000497089.1_Intron|HOXA9_ENST00000396345.1_3'UTR|RP1-170O19.20_ENST00000465941.1_Intron	p.R166*	NM_152739.3	NP_689952.1	P31269	HXA9_HUMAN			1	568	-			166					O43369|O43429|Q99820	Nonsense_Mutation	SNP	ENST00000343483.6	37	c.496A>T	CCDS5409.1	.	.	.	.	.	.	.	.	.	.	T	37	6.517563	0.97629	.	.	ENSG00000078399;ENSG00000078399;ENSG00000257184	ENST00000343483;ENST00000242050;ENST00000470747	.	.	.	5.86	5.86	0.93980	.	0.000000	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.7243	0.57162	0.0:0.0:0.1371:0.8629	.	.	.	.	X	166;157;6	.	ENSP00000242050:R157X	R	-	1	2	RP1-170O19.20;HOXA9	27171106	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.928000	0.40104	2.242000	0.73789	0.459000	0.35465	AGA		0.537	HOXA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358706.2			9	50	0	0	0	1	0	9	50					A	27204581	T	A	27204581	4	1	134	1	0	0	0	0	0	1	0	0	7298	1530	53	5	330	5	HOXA9	7	27204581	Nonsense_Mutation	SNP	T	TCGA-EJ-A8FN-01A-11D-A34U-08	7466468	27204581	131934082	19	6840											
ABCB4	5244	broad.mit.edu	37	chr7	87060768	87060768	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccttccttcttcatcagttcGctgtggcttccttgctccac	3	16	6	16	1	3	0	2	0	1	0	7	0	6	0	4	1	1	4	4	1	0	6			TCGA-EJ-A8FN-01A-11D-A34U-08	TCGA-EJ-A8FN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4526e2b2-d20d-4290-baf5-8d331fce6902	626f7f57-e6e8-4413-8a05-942c859a6d61	g.chr7:87060768G>T	ENST00000265723.4	-	15	1956	c.1845C>A	c.(1843-1845)agC>agA	p.S615R	ABCB4_ENST00000358400.3_Missense_Mutation_p.S615R|ABCB4_ENST00000545634.1_Missense_Mutation_p.S615R|ABCB4_ENST00000453593.1_Missense_Mutation_p.S615R|ABCB4_ENST00000359206.3_Missense_Mutation_p.S615R	NM_000443.3|NM_018849.2	NP_000434.1|NP_061337.1	P21439	MDR3_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 4	615	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				cellular lipid metabolic process (GO:0044255)|lipid metabolic process (GO:0006629)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intercellular canaliculus (GO:0046581)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|xenobiotic-transporting ATPase activity (GO:0008559)			breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)				Colchicine(DB01394)|Etravirine(DB06414)|Silodosin(DB06207)	TCATCAGTTCGCTGTGGCTTC	0.458																																						ENST00000265723.4																			0				breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77						c.(1843-1845)agC>agA		ATP-binding cassette, sub-family B (MDR/TAP), member 4							212	181	192					7																	87060768		2203	4300	6503	SO:0001583	missense	5244				cellular lipid metabolic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|xenobiotic-transporting ATPase activity	g.chr7:87060768G>T	M23234	CCDS5605.1, CCDS5606.1, CCDS5607.1	7q21	2012-03-14			ENSG00000005471	ENSG00000005471		"ATP binding cassette transporters / subfamily B"	45	protein-coding gene	gene with protein product		171060		PGY3, MDR3		2892668, 11313316	Standard	NM_018850		Approved	MDR2, PFIC-3, GBD1	uc003uiv.1	P21439	OTTHUMG00000023396	ENST00000265723.4:c.1845C>A	7.37:g.87060768G>T	ENSP00000265723:p.Ser615Arg					ABCB4_ENST00000545634.1_Missense_Mutation_p.S615R|ABCB4_ENST00000453593.1_Missense_Mutation_p.S615R|ABCB4_ENST00000359206.3_Missense_Mutation_p.S615R|ABCB4_ENST00000358400.3_Missense_Mutation_p.S615R	p.S615R	NM_000443.3|NM_018849.2	NP_000434.1|NP_061337.1	P21439	MDR3_HUMAN			15	1956	-	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)		615			ABC transporter 1.		A0A2V7|A4D1D3|A4D1D4|A4D1D5|D6W5P3|D6W5P4|Q14813	Missense_Mutation	SNP	ENST00000265723.4	37	c.1845C>A	CCDS5606.1	.	.	.	.	.	.	.	.	.	.	G	10.83	1.461176	0.26248	.	.	ENSG00000005471	ENST00000359206;ENST00000358400;ENST00000265723;ENST00000453593;ENST00000545634	T;T;T;T;T	0.65364	-0.15;-0.15;-0.15;-0.15;-0.15	5.49	-11.0	0.00169	ABC transporter-like (1);	0.531719	0.23575	N	0.046714	T	0.29458	0.0734	N	0.17474	0.49	0.23787	N	0.996844	B;B;B	0.09022	0.002;0.002;0.001	B;B;B	0.10450	0.005;0.005;0.004	T	0.05683	-1.0870	10	0.45353	T	0.12	-0.6039	2.3868	0.04367	0.4702:0.0847:0.2663:0.1788	.	615;615;615	A4D1D5;P21439-2;P21439	.;.;MDR3_HUMAN	R	615	ENSP00000352135:S615R;ENSP00000351172:S615R;ENSP00000265723:S615R;ENSP00000392983:S615R;ENSP00000437465:S615R	ENSP00000265723:S615R	S	-	3	2	ABCB4	86898704	0.000000	0.05858	0.265000	0.24526	0.672000	0.39443	-0.274000	0.08537	-2.795000	0.00354	-0.952000	0.02654	AGC		0.458	ABCB4-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000336083.1	NM_000443		42	75	1	0	1.15183e-24	1	1.28734e-24	42	75					T	87060768	G	T	87060768	3	4	134	1	0	0	0	0	1	0	0	0	43	1078	38	5	2071	5	ABCB4	7	87060768	Missense_Mutation	SNP	G	TCGA-EJ-A8FN-01A-11D-A34U-08	59856187	87060768	72077895	20	6841											
LMOD2	442721	broad.mit.edu	37	chr7	123302800	123302800	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaaagaggaacacctagctCttcaccttatgtatctccca	12	10	6	13	0	3	1	1	0	2	1	4	2	3	2	3	1	2	3	3	1	5	4			TCGA-EJ-A8FN-01A-11D-A34U-08	TCGA-EJ-A8FN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4526e2b2-d20d-4290-baf5-8d331fce6902	626f7f57-e6e8-4413-8a05-942c859a6d61	g.chr7:123302800C>A	ENST00000458573.2	+	2	1317	c.1160C>A	c.(1159-1161)tCt>tAt	p.S387Y	LMOD2_ENST00000456238.2_Intron	NM_207163.1	NP_997046.1	Q6P5Q4	LMOD2_HUMAN	leiomodin 2 (cardiac)	387	Pro-rich.					cytoskeleton (GO:0005856)											ACACCTAGCTCTTCACCTTAT	0.512																																						ENST00000458573.2																			0											c.(1159-1161)tCt>tAt		leiomodin 2 (cardiac)							113	111	112					7																	123302800		1981	4161	6142	SO:0001583	missense	442721					cytoskeleton	actin binding|tropomyosin binding	g.chr7:123302800C>A	AC006333	CCDS47693.1	7q31.32	2008-08-08			ENSG00000170807	ENSG00000170807			6648	protein-coding gene	gene with protein product		608006					Standard	NM_207163		Approved		uc003vky.2	Q6P5Q4	OTTHUMG00000157149	ENST00000458573.2:c.1160C>A	7.37:g.123302800C>A	ENSP00000411932:p.Ser387Tyr					LMOD2_ENST00000456238.2_Intron	p.S387Y	NM_207163.1	NP_997046.1	Q6P5Q4	LMOD2_HUMAN			2	1317	+			387			Pro-rich.		A4D0W9|A4D0Y2|Q8WVJ8	Missense_Mutation	SNP	ENST00000458573.2	37	c.1160C>A	CCDS47693.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.028677	0.75390	.	.	ENSG00000170807	ENST00000458573;ENST00000444702;ENST00000332074	D	0.92348	-3.02	5.11	5.11	0.69529	.	.	.	.	.	D	0.94768	0.8311	M	0.61703	1.905	0.80722	D	1	D	0.64830	0.994	P	0.60173	0.87	D	0.94955	0.8103	9	0.62326	D	0.03	.	18.8957	0.92423	0.0:1.0:0.0:0.0	.	387	Q6P5Q4	LMOD2_HUMAN	Y	387;347;358	ENSP00000411932:S387Y	ENSP00000405123:S358Y	S	+	2	0	LMOD2	123090036	0.999000	0.42202	0.994000	0.49952	0.816000	0.46133	4.643000	0.61390	2.539000	0.85634	0.313000	0.20887	TCT		0.512	LMOD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348525.1			31	79	1	0	5.60225e-13	1	6.14093e-13	31	79					A	123302800	C	A	123302800	3	1	134	1	0	0	0	0	1	0	0	0	8857	913	32	5	1166	5	LMOD2	7	123302800	Missense_Mutation	SNP	C	TCGA-EJ-A8FN-01A-11D-A34U-08	36242032	123302800	35835863	21	6842											
GPR172A	79581	broad.mit.edu	37	chr8	145583708	145583708	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcacccctggccccccgctcGacttccttgagcgttttccc	3	10	8	20	3	0	1	0	1	0	0	3	2	2	1	7	1	1	3	7	1	0	4			TCGA-EJ-A8FN-01A-11D-A34U-08	TCGA-EJ-A8FN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4526e2b2-d20d-4290-baf5-8d331fce6902	626f7f57-e6e8-4413-8a05-942c859a6d61	g.chr8:145583708G>A	ENST00000532887.1	+	3	1139	c.556G>A	c.(556-558)Gac>Aac	p.D186N	SLC52A2_ENST00000402965.1_Missense_Mutation_p.D186N|FBXL6_ENST00000526524.1_5'Flank|SLC52A2_ENST00000329994.2_Missense_Mutation_p.D186N|FBXL6_ENST00000331890.5_5'Flank|SLC52A2_ENST00000540505.1_Missense_Mutation_p.D98N|FBXL6_ENST00000455319.2_5'Flank|SLC52A2_ENST00000526752.1_Intron|SLC52A2_ENST00000527078.1_Missense_Mutation_p.D186N|SLC52A2_ENST00000530047.1_Missense_Mutation_p.D186N			Q9HAB3	S52A2_HUMAN	solute carrier family 52 (riboflavin transporter), member 2	186					riboflavin transport (GO:0032218)	integral component of plasma membrane (GO:0005887)	riboflavin transporter activity (GO:0032217)|virus receptor activity (GO:0001618)									Gamma Hydroxybutyric Acid(DB01440)	CCCCCCGCTCGACTTCCTTGA	0.672																																						ENST00000532887.1																			0											c.(556-558)Gac>Aac		solute carrier family 52 (riboflavin transporter), member 2							47	51	50					8																	145583708		2203	4297	6500	SO:0001583	missense	79581					integral to plasma membrane	receptor activity|riboflavin transporter activity	g.chr8:145583708G>A	AY070774	CCDS6423.1	8q24.3	2013-07-17	2013-07-17	2012-02-29		ENSG00000185803		"Solute carriers"	30224	protein-coding gene	gene with protein product		607882	"G protein-coupled receptor 172A"	GPR172A		12740431	Standard	NM_024531		Approved	FLJ11856, PAR1, GPCR41, D15Ertd747e, RFVT2, hRFT3	uc003zcd.2	Q9HAB3		ENST00000532887.1:c.556G>A	8.37:g.145583708G>A	ENSP00000436768:p.Asp186Asn					SLC52A2_ENST00000402965.1_Missense_Mutation_p.D186N|SLC52A2_ENST00000526752.1_Intron|SLC52A2_ENST00000540505.1_Missense_Mutation_p.D98N|SLC52A2_ENST00000329994.2_Missense_Mutation_p.D186N|SLC52A2_ENST00000530047.1_Missense_Mutation_p.D186N|SLC52A2_ENST00000527078.1_Missense_Mutation_p.D186N	p.D186N			Q9HAB3	RFT3_HUMAN			3	1139	+			186					A8K6B6|D3DWL8|G1UCY1|Q86UT1	Missense_Mutation	SNP	ENST00000532887.1	37	c.556G>A	CCDS6423.1	.	.	.	.	.	.	.	.	.	.	G	3.332	-0.136548	0.06711	.	.	ENSG00000185803	ENST00000530047;ENST00000527078;ENST00000402965;ENST00000532887;ENST00000329994;ENST00000540505	T;T;T;T;T;T	0.74315	-0.83;-0.83;-0.83;-0.83;-0.83;-0.59	4.34	-8.69	0.00855	.	0.536026	0.19910	N	0.103309	T	0.41558	0.1164	N	0.13043	0.29	0.09310	N	1	B	0.09022	0.002	B	0.01281	0.0	T	0.33752	-0.9856	9	.	.	.	.	1.6204	0.02712	0.1341:0.1507:0.3575:0.3578	.	186	Q9HAB3	RFT3_HUMAN	N	186;186;186;186;186;98	ENSP00000435820:D186N;ENSP00000434728:D186N;ENSP00000385961:D186N;ENSP00000436768:D186N;ENSP00000333638:D186N;ENSP00000440400:D98N	.	D	+	1	0	GPR172A	145554516	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	-0.236000	0.09003	-4.026000	0.00080	-0.448000	0.05591	GAC		0.672	SLC52A2-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382405.1	NM_024531		5	77	0	0	0	1	0	5	77					A	145583708	G	A	145583708	3	1	134	1	0	0	0	0	1	0	0	0	6669	1058	37	2	562	2	GPR172A	8	145583708	Missense_Mutation	SNP	G	TCGA-EJ-A8FN-01A-11D-A34U-08		145583708	780314	22	6843											
RFX3	5991	broad.mit.edu	37	chr9	3293175	3293175	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccagtttgtgttcctgacaGtgtcgaaggtagtggttgta	7	15	13	6	1	0	1	0	1	0	0	3	2	2	1	2	2	0	5	2	2	3	5			TCGA-EJ-A8FN-01A-11D-A34U-08	TCGA-EJ-A8FN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4526e2b2-d20d-4290-baf5-8d331fce6902	626f7f57-e6e8-4413-8a05-942c859a6d61	g.chr9:3293175G>A	ENST00000382004.3	-	7	944	c.633C>T	c.(631-633)caC>caT	p.H211H	RFX3_ENST00000302303.1_Silent_p.H211H|RFX3_ENST00000358730.2_Silent_p.H211H	NM_001282116.1|NM_134428.1	NP_001269045.1|NP_602304.1	P48380	RFX3_HUMAN	regulatory factor X, 3 (influences HLA class II expression)	211					cell maturation (GO:0048469)|cilium assembly (GO:0042384)|cilium-dependent cell motility (GO:0060285)|endocrine pancreas development (GO:0031018)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type B pancreatic cell development (GO:2000078)|regulation of insulin secretion (GO:0050796)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)|type B pancreatic cell maturation (GO:0072560)	nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(11)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	40				GBM - Glioblastoma multiforme(50;0.00124)|Lung(2;0.0337)		GTTCCTGACAGTGTCGAAGGT	0.463																																						ENST00000382004.3																			0				central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(11)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	40						c.(631-633)caC>caT		regulatory factor X, 3 (influences HLA class II expression)							134	120	125					9																	3293175		2203	4300	6503	SO:0001819	synonymous_variant	5991				cell maturation|ciliary cell motility|cilium assembly|cilium movement involved in determination of left/right asymmetry|endocrine pancreas development|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type B pancreatic cell development|regulation of insulin secretion	nuclear chromatin	protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding	g.chr9:3293175G>A	AI811824	CCDS6449.1, CCDS6450.1, CCDS75809.1	9p24.2	2008-02-05			ENSG00000080298	ENSG00000080298			9984	protein-coding gene	gene with protein product		601337				8289803	Standard	XM_005251534		Approved		uc003zhr.3	P48380	OTTHUMG00000019456	ENST00000382004.3:c.633C>T	9.37:g.3293175G>A						RFX3_ENST00000302303.1_Silent_p.H211H|RFX3_ENST00000358730.2_Silent_p.H211H	p.H211H	NM_134428.1	NP_602304.1	P48380	RFX3_HUMAN		GBM - Glioblastoma multiforme(50;0.00124)|Lung(2;0.0337)	7	944	-			211					A8K0H5|D3DRH8|D3DRH9|Q5JTL7|Q5JTL8|Q6NW13|Q8WTU4|Q95HL5|Q95HL6	Silent	SNP	ENST00000382004.3	37	c.633C>T	CCDS6449.1																																																																																				0.463	RFX3-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051545.1	NM_002919		5	80	0	0	0	1	0	5	80					A	3293175	G	A	3293175	2	1	134	1	0	0	0	0	0	0	0	1	13264	1020	36	3		3	RFX3	9	3293175	Silent	SNP	G	TCGA-EJ-A8FN-01A-11D-A34U-08		3293175	137920256	23	6844											
ADAMTSL1	92949	broad.mit.edu	37	chr9	18504838	18504838	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctcacagagttccaggacCgcacgctccgaggaggaccg	9	6	12	14	4	1	1	1	0	1	1	4	5	3	4	4	3	0	3	4	3	0	2			TCGA-EJ-A8FN-01A-11D-A34U-08	TCGA-EJ-A8FN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4526e2b2-d20d-4290-baf5-8d331fce6902	626f7f57-e6e8-4413-8a05-942c859a6d61	g.chr9:18504838C>T	ENST00000380548.4	+	2	414	c.75C>T	c.(73-75)acC>acT	p.T25T	ADAMTSL1_ENST00000327883.7_Silent_p.T25T|ADAMTSL1_ENST00000380566.4_Silent_p.T25T|ADAMTSL1_ENST00000276935.6_Silent_p.T25T|ADAMTSL1_ENST00000431052.2_Silent_p.T25T|ADAMTSL1_ENST00000380570.4_Silent_p.T25T	NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1	25						proteinaceous extracellular matrix (GO:0005578)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		GTTCCAGGACCGCACGCTCCG	0.577																																						ENST00000380548.4																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42						c.(73-75)acC>acT		ADAMTS-like 1							70	76	74					9																	18504838		2203	4300	6503	SO:0001819	synonymous_variant	92949					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding	g.chr9:18504838C>T	AF176313	CCDS6485.1, CCDS47954.1	9p21.3	2013-01-11			ENSG00000178031	ENSG00000178031		"Immunoglobulin superfamily / I-set domain containing"	14632	protein-coding gene	gene with protein product	"punctin"	609198	"chromosome 9 open reading frame 94"	C9orf94		9628581, 11805097	Standard	NM_001040272		Approved	ADAMTSR1, FLJ35283	uc003zne.4	Q8N6G6	OTTHUMG00000019604	ENST00000380548.4:c.75C>T	9.37:g.18504838C>T						ADAMTSL1_ENST00000380570.4_Silent_p.T25T|ADAMTSL1_ENST00000431052.2_Silent_p.T25T|ADAMTSL1_ENST00000380566.4_Silent_p.T25T|ADAMTSL1_ENST00000276935.6_Silent_p.T25T|ADAMTSL1_ENST00000327883.7_Silent_p.T25T	p.T25T	NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN		GBM - Glioblastoma multiforme(50;1.29e-17)	2	414	+			25					A6PVN1|A8K7E1|Q496M6|Q496M8|Q5T708|Q5VZT8|Q8NAI9|Q96RW4|Q9BXY3	Silent	SNP	ENST00000380548.4	37	c.75C>T	CCDS47954.1																																																																																				0.577	ADAMTSL1-012	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401206.1			5	81	0	0	0	1	0	5	81					T	18504838	C	T	18504838	2	4	134	1	0	0	0	0	0	0	0	1	274	639	23	2		2	ADAMTSL1	9	18504838	Silent	SNP	C	TCGA-EJ-A8FN-01A-11D-A34U-08	15211663	18504838	122708593	24	6845											
FRMPD1	22844	broad.mit.edu	37	chr9	37746501	37746501	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agagatgcagggggccgtgcGtgacaccttccagcacctgg	8	6	15	12	2	0	2	0	1	0	1	1	3	1	2	4	3	3	2	4	3	0	1			TCGA-EJ-A8FN-01A-11D-A34U-08	TCGA-EJ-A8FN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4526e2b2-d20d-4290-baf5-8d331fce6902	626f7f57-e6e8-4413-8a05-942c859a6d61	g.chr9:37746501G>A	ENST00000539465.1	+	16	5065	c.4472G>A	c.(4471-4473)cGt>cAt	p.R1491H	RP11-613M10.9_ENST00000540557.1_Intron|FRMPD1_ENST00000377765.3_Missense_Mutation_p.R1491H			Q5SYB0	FRPD1_HUMAN	FERM and PDZ domain containing 1	1491						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)				NS(3)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(34)|ovary(5)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	93				GBM - Glioblastoma multiforme(29;0.00655)		GGGGCCGTGCGTGACACCTTC	0.657																																						ENST00000539465.1																			0				NS(3)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(34)|ovary(5)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	93						c.(4471-4473)cGt>cAt		FERM and PDZ domain containing 1							33	35	34					9																	37746501		2203	4300	6503	SO:0001583	missense	22844					cytoskeleton|cytosol|plasma membrane		g.chr9:37746501G>A	AB023184	CCDS6612.1	9p13.1	2008-02-05			ENSG00000070601	ENSG00000070601			29159	protein-coding gene	gene with protein product						10231032	Standard	NM_014907		Approved	KIAA0967, FRMD2	uc004aag.1	Q5SYB0	OTTHUMG00000019927	ENST00000539465.1:c.4472G>A	9.37:g.37746501G>A	ENSP00000444411:p.Arg1491His					FRMPD1_ENST00000377765.3_Missense_Mutation_p.R1491H|RP11-613M10.9_ENST00000540557.1_Intron	p.R1491H			Q5SYB0	FRPD1_HUMAN		GBM - Glioblastoma multiforme(29;0.00655)	16	5065	+			1491					B4DZC8|B7Z807|D3DRQ3|Q14C73|Q5HY96|Q9Y2H3	Missense_Mutation	SNP	ENST00000539465.1	37	c.4472G>A	CCDS6612.1	.	.	.	.	.	.	.	.	.	.	G	15.03	2.710947	0.48517	.	.	ENSG00000070601	ENST00000377765;ENST00000539465	T;T	0.07800	3.16;3.16	5.53	3.45	0.39498	.	0.354800	0.28365	N	0.015610	T	0.05868	0.0153	L	0.29908	0.895	0.80722	D	1	B	0.14438	0.01	B	0.10450	0.005	T	0.27400	-1.0075	10	0.62326	D	0.03	-4.424	3.7683	0.08632	0.2428:0.2013:0.5559:0.0	.	1491	Q5SYB0	FRPD1_HUMAN	H	1491	ENSP00000366995:R1491H;ENSP00000444411:R1491H	ENSP00000366995:R1491H	R	+	2	0	FRMPD1	37736501	0.917000	0.31117	0.540000	0.28089	0.932000	0.56968	2.072000	0.41510	1.337000	0.45525	0.655000	0.94253	CGT		0.657	FRMPD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402969.1	NM_014907		6	30	0	0	0	1	0	6	30					A	37746501	G	A	37746501	3	1	134	1	0	0	0	0	1	0	0	0	6057	1145	40	1	4530	1	FRMPD1	9	37746501	Missense_Mutation	SNP	G	TCGA-EJ-A8FN-01A-11D-A34U-08	19241663	37746501	103466930	25	6846											
STRBP	55342	broad.mit.edu	37	chr9	125936108	125936108	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cattacaccacacaatgtccGaccaccttgatccctaaaaa	15	8	3	15	1	0	1	0	1	0	0	2	2	2	1	5	0	1	0	5	0	5	3			TCGA-EJ-A8FN-01A-11D-A34U-08	TCGA-EJ-A8FN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4526e2b2-d20d-4290-baf5-8d331fce6902	626f7f57-e6e8-4413-8a05-942c859a6d61	g.chr9:125936108G>A	ENST00000348403.5	-	5	667	c.238C>T	c.(238-240)Cgg>Tgg	p.R80W	STRBP_ENST00000447404.2_Missense_Mutation_p.R80W|STRBP_ENST00000360998.3_Missense_Mutation_p.R66W	NM_018387.4	NP_060857.2	Q96SI9	STRBP_HUMAN	spermatid perinuclear RNA binding protein	80	DZF. {ECO:0000255|PROSITE- ProRule:PRU01040}.				cellular component movement (GO:0006928)|mechanosensory behavior (GO:0007638)|multicellular organismal development (GO:0007275)|spermatid development (GO:0007286)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)	DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)|single-stranded RNA binding (GO:0003727)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(6)|prostate(1)|skin(2)	26						CACAATGTCCGACCACCTTGA	0.393																																						ENST00000447404.2																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(6)|prostate(1)|skin(2)	26						c.(238-240)Cgg>Tgg		spermatid perinuclear RNA binding protein							175	162	167					9																	125936108		2203	4300	6503	SO:0001583	missense	0				multicellular organismal development	cytoplasm|nucleus	DNA binding	g.chr9:125936108G>A	AK002169	CCDS6851.1, CCDS55337.1	9q33.1-q33.3	2008-08-29	2001-11-28		ENSG00000165209	ENSG00000165209			16462	protein-coding gene	gene with protein product		611138	"spermatid perinuclear RNA-binding protein", "interleukin enhancer binding factor 3-like"	ILF3L			Standard	NM_018387		Approved	FLJ11307, SPNR	uc004bns.3	Q96SI9	OTTHUMG00000020636	ENST00000348403.5:c.238C>T	9.37:g.125936108G>A	ENSP00000321347:p.Arg80Trp					STRBP_ENST00000360998.3_Missense_Mutation_p.R66W|STRBP_ENST00000348403.5_Missense_Mutation_p.R80W	p.R80W			Q96SI9	STRBP_HUMAN			4	542	-			80					Q32NB9|Q9BUE1|Q9BXG4|Q9H0B4|Q9H7V1|Q9NUK4	Missense_Mutation	SNP	ENST00000348403.5	37	c.238C>T	CCDS6851.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.988050	0.74589	.	.	ENSG00000165209	ENST00000447404;ENST00000348403;ENST00000360998	T;T;T	0.31247	1.72;1.72;1.5	5.64	4.74	0.60224	.	0.122937	0.56097	D	0.000032	T	0.53948	0.1828	M	0.81341	2.54	0.51767	D	0.999932	D	0.69078	0.997	P	0.61132	0.884	T	0.60110	-0.7327	10	0.87932	D	0	-6.728	14.9641	0.71176	0.0696:0.0:0.9304:0.0	.	80	Q96SI9	STRBP_HUMAN	W	80;80;66	ENSP00000415968:R80W;ENSP00000321347:R80W;ENSP00000354271:R66W	ENSP00000321347:R80W	R	-	1	2	STRBP	124975929	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.963000	0.49184	2.673000	0.90976	0.591000	0.81541	CGG		0.393	STRBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053982.1			28	67	0	0	0	1	0	28	67					A	125936108	G	A	125936108	3	1	134	1	0	0	0	0	1	0	0	0	15326	1057	37	2	1840	2	STRBP	9	125936108	Missense_Mutation	SNP	G	TCGA-EJ-A8FN-01A-11D-A34U-08	88189607	125936108	15277323	26	6847											
ACBD5	91452	broad.mit.edu	37	chr10	27499985	27499985	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agtaatactgaaatggtccaTtgttggacgtaaagctgtct	12	13	10	6	1	1	1	0	1	1	0	2	2	2	2	1	2	2	4	1	2	5	5			TCGA-EJ-A8FN-01A-11D-A34U-08	TCGA-EJ-A8FN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4526e2b2-d20d-4290-baf5-8d331fce6902	626f7f57-e6e8-4413-8a05-942c859a6d61	g.chr10:27499985T>C	ENST00000375888.1	-	9	1053	c.989A>G	c.(988-990)aAt>aGt	p.N330S	ACBD5_ENST00000375901.1_Missense_Mutation_p.N212S|ACBD5_ENST00000375905.4_Missense_Mutation_p.N286S|ACBD5_ENST00000375897.3_Missense_Mutation_p.N144S|ACBD5_ENST00000476758.1_5'UTR|ACBD5_ENST00000396271.3_Missense_Mutation_p.N321S			Q5T8D3	ACBD5_HUMAN	acyl-CoA binding domain containing 5	330					peroxisome degradation (GO:0030242)|transport (GO:0006810)	integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)|peroxisome (GO:0005777)	fatty-acyl-CoA binding (GO:0000062)|lipid binding (GO:0008289)			breast(1)|endometrium(1)|large_intestine(3)|lung(7)|prostate(1)	13						AAATGGTCCATTGTTGGACGT	0.363																																						ENST00000396271.3																			0				breast(1)|endometrium(1)|large_intestine(3)|lung(7)|prostate(1)	13						c.(961-963)aAt>aGt		acyl-CoA binding domain containing 5							85	81	82					10																	27499985		2203	4300	6503	SO:0001583	missense	91452				transport	integral to membrane|peroxisomal membrane	fatty-acyl-CoA binding	g.chr10:27499985T>C	AF505653	CCDS7154.1, CCDS44368.1, CCDS73079.1	10p12.1	2010-04-30	2010-04-30		ENSG00000107897	ENSG00000107897			23338	protein-coding gene	gene with protein product			"acyl-Coenzyme A binding domain containing 5"			12056414	Standard	NR_024150		Approved	DKFZp434A2417, KIAA1996	uc010qdp.2	Q5T8D3	OTTHUMG00000017854	ENST00000375888.1:c.989A>G	10.37:g.27499985T>C	ENSP00000365049:p.Asn330Ser					ACBD5_ENST00000375897.3_Missense_Mutation_p.N144S|ACBD5_ENST00000375901.1_Missense_Mutation_p.N212S|ACBD5_ENST00000375905.4_Missense_Mutation_p.N286S|ACBD5_ENST00000375888.1_Missense_Mutation_p.N330S|ACBD5_ENST00000476758.1_5'UTR	p.N321S	NM_145698.3	NP_663736.2	Q5T8D3	ACBD5_HUMAN			9	1088	-			330					B3KQ56|D3DRW0|Q5T8D4|Q5T8E1|Q5T8E2|Q86UV1|Q8N6E3|Q9UFB5	Missense_Mutation	SNP	ENST00000375888.1	37	c.962A>G		.	.	.	.	.	.	.	.	.	.	T	2.517	-0.311610	0.05422	.	.	ENSG00000107897	ENST00000375889;ENST00000396271;ENST00000375905;ENST00000375901;ENST00000375897;ENST00000375888	T;T;T;T;T	0.30448	2.53;2.27;1.53;1.56;2.53	5.5	-6.54	0.01860	.	0.979395	0.08373	N	0.955839	T	0.21718	0.0523	L	0.54323	1.7	0.18873	N	0.999982	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.04013	0.001;0.0;0.0;0.0	T	0.39078	-0.9631	10	0.10902	T	0.67	-3.2722	9.4304	0.38606	0.0:0.4571:0.1073:0.4355	.	321;144;319;330	Q5T8D3-3;B7Z2A7;B7Z2R7;Q5T8D3	.;.;.;ACBD5_HUMAN	S	327;321;286;212;144;330	ENSP00000379568:N321S;ENSP00000365070:N286S;ENSP00000365066:N212S;ENSP00000365062:N144S;ENSP00000365049:N330S	ENSP00000365049:N330S	N	-	2	0	ACBD5	27539991	0.043000	0.20138	0.328000	0.25416	0.099000	0.18886	-1.424000	0.02448	-1.287000	0.02381	-1.144000	0.01866	AAT		0.363	ACBD5-005	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000047314.1	NM_145698		13	88	0	0	0	1	0	13	88					C	27499985	T	C	27499985	3	2	134	1	0	0	0	0	1	0	0	0	125	1493	52	4	635	4	ACBD5	10	27499985	Missense_Mutation	SNP	T	TCGA-EJ-A8FN-01A-11D-A34U-08		27499985	108034762	27	6848											
NUDT13	25961	broad.mit.edu	37	chr10	74881976	74881976	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttggacaggatgcacaaagAatagaagattctgtgctgat	14	11	11	5	0	1	4	0	1	1	3	1	6	1	6	0	2	2	2	0	2	4	3			TCGA-EJ-A8FN-01A-11D-A34U-08	TCGA-EJ-A8FN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4526e2b2-d20d-4290-baf5-8d331fce6902	626f7f57-e6e8-4413-8a05-942c859a6d61	g.chr10:74881976A>C	ENST00000357321.4	+	4	385	c.267A>C	c.(265-267)agA>agC	p.R89S	NUDT13_ENST00000488223.1_3'UTR|NUDT13_ENST00000544879.1_5'UTR|NUDT13_ENST00000537969.1_5'UTR|RP11-152N13.16_ENST00000608444.1_RNA|NUDT13_ENST00000372997.3_Missense_Mutation_p.R89S|NUDT13_ENST00000349051.5_Missense_Mutation_p.R89S	NM_001283016.1|NM_015901.4	NP_001269945.1|NP_056985.3			nudix (nucleoside diphosphate linked moiety X)-type motif 13											large_intestine(2)|lung(5)	7	Prostate(51;0.0119)					ATGCACAAAGAATAGAAGATT	0.433																																						ENST00000357321.4																			0				large_intestine(2)|lung(5)	7						c.(265-267)agA>agC		nudix (nucleoside diphosphate linked moiety X)-type motif 13							167	161	163					10																	74881976		2203	4300	6503	SO:0001583	missense	25961						hydrolase activity|metal ion binding	g.chr10:74881976A>C	AL050114	CCDS31220.1, CCDS60551.1, CCDS60552.1, CCDS60553.1, CCDS73148.1	10q22.3	2014-04-24			ENSG00000166321	ENSG00000166321		"Nudix motif containing"	18827	protein-coding gene	gene with protein product		609233				15164054	Standard	NM_001283019		Approved	DKFZp586P2219	uc001jtj.3	Q86X67	OTTHUMG00000018453	ENST00000357321.4:c.267A>C	10.37:g.74881976A>C	ENSP00000349874:p.Arg89Ser					NUDT13_ENST00000349051.5_Missense_Mutation_p.R89S|NUDT13_ENST00000544879.1_5'UTR|NUDT13_ENST00000537969.1_5'UTR|NUDT13_ENST00000488223.1_3'UTR|NUDT13_ENST00000372997.3_Missense_Mutation_p.R89S	p.R89S	NM_015901.4	NP_056985.3	Q86X67	NUD13_HUMAN			4	385	+	Prostate(51;0.0119)		89						Missense_Mutation	SNP	ENST00000357321.4	37	c.267A>C	CCDS31220.1	.	.	.	.	.	.	.	.	.	.	A	14.68	2.607006	0.46527	.	.	ENSG00000166321	ENST00000357321;ENST00000349051;ENST00000372997	T;T;T	0.28069	1.63;1.63;1.63	6.08	2.52	0.30459	NADH pyrophosphatase-like, N-terminal (1);	0.489485	0.25001	N	0.033906	T	0.23014	0.0556	L	0.54323	1.7	0.09310	N	0.999998	B;B;B	0.27140	0.169;0.082;0.033	B;B;B	0.24155	0.051;0.035;0.012	T	0.17653	-1.0362	10	0.11794	T	0.64	.	8.2288	0.31587	0.7402:0.0:0.2598:0.0	.	89;89;89	Q86X67-2;Q5SQM6;Q86X67	.;.;NUD13_HUMAN	S	89	ENSP00000349874:R89S;ENSP00000335326:R89S;ENSP00000362088:R89S	ENSP00000335326:R89S	R	+	3	2	NUDT13	74551982	0.972000	0.33761	0.187000	0.23214	0.985000	0.73830	0.453000	0.21811	1.084000	0.41184	0.533000	0.62120	AGA		0.433	NUDT13-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048614.1	NM_015901		5	129	0	0	0	1	0	5	129					C	74881976	A	C	74881976	3	2	134	1	0	0	0	0	1	0	0	0	10729	243	9	5	277	5	NUDT13	10	74881976	Missense_Mutation	SNP	A	TCGA-EJ-A8FN-01A-11D-A34U-08	47381991	74881976	60652771	28	6849											
GLYATL2	219970	broad.mit.edu	37	chr11	58604621	58604621	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttttgaagttgcaacctttcTtattgcttcatccaagccct	8	17	5	11	0	2	1	1	1	1	0	3	1	3	1	3	0	4	3	3	0	4	7			TCGA-EJ-A8FN-01A-11D-A34U-08	TCGA-EJ-A8FN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4526e2b2-d20d-4290-baf5-8d331fce6902	626f7f57-e6e8-4413-8a05-942c859a6d61	g.chr11:58604621T>G	ENST00000287275.1	-	5	733	c.343A>C	c.(343-345)Aga>Cga	p.R115R	GLYATL2_ENST00000532258.1_Silent_p.R115R|GLYATL2_ENST00000533636.1_5'UTR	NM_145016.3	NP_659453.3	Q8WU03	GLYL2_HUMAN	glycine-N-acyltransferase-like 2	115						endoplasmic reticulum (GO:0005783)|mitochondrion (GO:0005739)	glycine N-acyltransferase activity (GO:0047961)			breast(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	23		Breast(21;0.0044)|all_epithelial(135;0.0216)			Glycine(DB00145)	GCAACCTTTCTTATTGCTTCA	0.398																																						ENST00000287275.1																			0				breast(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	23						c.(343-345)Aga>Cga		glycine-N-acyltransferase-like 2	Glycine(DB00145)						171	151	157					11																	58604621		1868	4100	5968	SO:0001819	synonymous_variant	219970					mitochondrion	glycine N-acyltransferase activity	g.chr11:58604621T>G	AF426250	CCDS41649.1	11q12.1	2008-02-05				ENSG00000156689			24178	protein-coding gene	gene with protein product		614762				12477932	Standard	NM_145016		Approved	BXMAS2-10, MGC24009	uc001nnd.4	Q8WU03		ENST00000287275.1:c.343A>C	11.37:g.58604621T>G						GLYATL2_ENST00000532258.1_Silent_p.R115R|GLYATL2_ENST00000533636.1_5'UTR	p.R115R	NM_145016.3	NP_659453.3	Q8WU03	GLYL2_HUMAN			5	733	-		Breast(21;0.0044)|all_epithelial(135;0.0216)	115					A5LGC7|Q86WC3|Q96AT2	Silent	SNP	ENST00000287275.1	37	c.343A>C	CCDS41649.1																																																																																				0.398	GLYATL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394599.1	NM_145016		42	86	0	0	0	1	0	42	86					G	58604621	T	G	58604621	2	3	134	1	0	0	0	0	0	0	0	1	6481	1617	56	5		5	GLYATL2	11	58604621	Silent	SNP	T	TCGA-EJ-A8FN-01A-11D-A34U-08		58604621	76401895	29	6850											
BSX	390259	broad.mit.edu	37	chr11	122848488	122848488	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcggtggcggcctctgaacCgcgggggctgccctcggggc	2	5	20	14	5	1	1	0	1	1	0	2	1	1	1	3	8	2	1	3	8	1	0			TCGA-EJ-A8FN-01A-11D-A34U-08	TCGA-EJ-A8FN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4526e2b2-d20d-4290-baf5-8d331fce6902	626f7f57-e6e8-4413-8a05-942c859a6d61	g.chr11:122848488C>A	ENST00000343035.2	-	3	619	c.571G>T	c.(571-573)Ggt>Tgt	p.G191C		NM_001098169.1	NP_001091639.1	Q3C1V8	BSH_HUMAN	brain-specific homeobox	191					eating behavior (GO:0042755)|locomotory behavior (GO:0007626)|mammary gland involution (GO:0060056)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(2)	10		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0361)		GCCTCTGAACCGCGGGGGCTG	0.657																																						ENST00000343035.2																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(2)	10						c.(571-573)Ggt>Tgt		brain-specific homeobox							26	30	29					11																	122848488		1855	4084	5939	SO:0001583	missense	390259							g.chr11:122848488C>A		CCDS41728.1	11q24.1	2011-07-19			ENSG00000188909	ENSG00000188909		"Homeoboxes / ANTP class : NKL subclass"	20450	protein-coding gene	gene with protein product		611074					Standard	NM_001098169		Approved	BSX1	uc010rzs.2	Q3C1V8	OTTHUMG00000150247	ENST00000343035.2:c.571G>T	11.37:g.122848488C>A	ENSP00000344285:p.Gly191Cys						p.G191C	NM_001098169.1	NP_001091639.1	Q3C1V8	BSH_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0361)	3	619	-		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	191						Missense_Mutation	SNP	ENST00000343035.2	37	c.571G>T	CCDS41728.1	.	.	.	.	.	.	.	.	.	.	C	13.57	2.277746	0.40294	.	.	ENSG00000188909	ENST00000343035	D	0.94232	-3.38	5.4	3.48	0.39840	.	0.491488	0.21033	N	0.081315	D	0.86397	0.5923	N	0.14661	0.345	0.32002	N	0.603285	B	0.33612	0.419	B	0.34779	0.189	D	0.87421	0.2382	10	0.59425	D	0.04	.	11.2053	0.48765	0.0:0.8031:0.1269:0.07	.	191	Q3C1V8	BSH_HUMAN	C	191	ENSP00000344285:G191C	ENSP00000344285:G191C	G	-	1	0	BSX	122353698	0.985000	0.35326	0.126000	0.21872	0.302000	0.27658	2.095000	0.41729	1.243000	0.43853	0.561000	0.74099	GGT		0.657	BSX-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317076.1	NM_001098169		10	25	1	0	4.68919e-08	1	4.9497e-08	10	25					A	122848488	C	A	122848488	3	1	134	1	0	0	0	0	1	0	0	0	1535	652	23	5	133	5	BSX	11	122848488	Missense_Mutation	SNP	C	TCGA-EJ-A8FN-01A-11D-A34U-08	64243867	122848488	12158028	30	6851											
MLL2	8085	broad.mit.edu	37	chr12	49445273	49445274	+	Frame_Shift_Del	DEL	CT	CT	-																															gaccgggggcagagttgcggCtcctcaggtagtggcaacag																										TCGA-EJ-A8FN-01A-11D-A34U-08	TCGA-EJ-A8FN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4526e2b2-d20d-4290-baf5-8d331fce6902	626f7f57-e6e8-4413-8a05-942c859a6d61	g.chr12:49445273_49445274delCT	ENST00000301067.7	-	10	2191_2192	c.2192_2193delAG	c.(2191-2193)gagfs	p.E731fs		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	731	Pro-rich.			Missing (in Ref. 1; AAC51734). {ECO:0000305}.	chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)										AGAGTTGCGGCTCCTCAGGTAG	0.688																																						ENST00000301067.7																			0											c.(2191-2193)gfs		lysine (K)-specific methyltransferase 2D																																				SO:0001589	frameshift_variant	8085							g.chr12:49445273_49445274delCT	AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	7133	protein-coding gene	gene with protein product		602113	"trinucleotide repeat containing 21", "myeloid/lymphoid or mixed-lineage leukemia 2"	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.2192_2193delAG	12.37:g.49445273_49445274delCT	ENSP00000301067:p.Glu731fs						p.E731fs	NM_003482.3	NP_003473.3					10	2191_2192	-								O14687	Frame_Shift_Del	DEL	ENST00000301067.7	37	c.2192_2193delAG	CCDS44873.1																																																																																				0.688	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2			28	59						28	59	---	---	---	---	-	49445274	CT	-	49445273	7	5	134	1	0	1	0	1	0	0	0	0	9621	796	28	0	14600	0	MLL2	12	49445273	Frame_Shift_Del	DEL	CT	TCGA-EJ-A8FN-01A-11D-A34U-08		49445273	84406622	31	6852											
PPP2R5E	5529	broad.mit.edu	37	chr14	64006397	64006397	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggaggagtagttggtgctgAggacatatccctactgaaga	11	10	14	6	0	0	3	0	2	0	1	1	6	1	6	1	4	2	3	1	4	4	4			TCGA-EJ-A8FN-01A-11D-A34U-08	TCGA-EJ-A8FN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4526e2b2-d20d-4290-baf5-8d331fce6902	626f7f57-e6e8-4413-8a05-942c859a6d61	g.chr14:64006397A>G	ENST00000337537.3	-	2	609	c.7T>C	c.(7-9)Tca>Cca	p.S3P	PPP2R5E_ENST00000555899.1_Missense_Mutation_p.S3P|PPP2R5E_ENST00000553266.1_5'UTR	NM_001282179.1|NM_001282180.1|NM_001282181.1|NM_001282182.1|NM_006246.2	NP_001269108.1|NP_001269109.1|NP_001269110.1|NP_001269111.1|NP_006237.1	Q16537	2A5E_HUMAN	protein phosphatase 2, regulatory subunit B', epsilon isoform	3					regulation of catalytic activity (GO:0050790)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|protein phosphatase type 2A complex (GO:0000159)	protein phosphatase type 2A regulator activity (GO:0008601)			endometrium(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|soft_tissue(1)	15				OV - Ovarian serous cystadenocarcinoma(108;0.00197)|all cancers(60;0.0153)|BRCA - Breast invasive adenocarcinoma(234;0.128)		GTTGGTGCTGAGGACATATCC	0.418																																						ENST00000337537.3																			0				endometrium(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|soft_tissue(1)	15						c.(7-9)Tca>Cca		protein phosphatase 2, regulatory subunit B', epsilon isoform							88	80	83					14																	64006397		2203	4300	6503	SO:0001583	missense	5529				signal transduction	cytoplasm|intracellular membrane-bounded organelle|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity	g.chr14:64006397A>G	L76703	CCDS9758.1, CCDS61467.1, CCDS61468.1	14q23.2	2010-06-18	2007-01-22		ENSG00000154001	ENSG00000154001		"Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"	9313	protein-coding gene	gene with protein product		601647	"protein phosphatase 2, regulatory subunit B (B56), epsilon isoform"			7592815	Standard	NM_006246		Approved		uc001xgd.1	Q16537	OTTHUMG00000140341	ENST00000337537.3:c.7T>C	14.37:g.64006397A>G	ENSP00000337641:p.Ser3Pro					PPP2R5E_ENST00000553266.1_5'UTR|PPP2R5E_ENST00000555899.1_Missense_Mutation_p.S3P	p.S3P	NM_006246.2	NP_006237.1	Q16537	2A5E_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00197)|all cancers(60;0.0153)|BRCA - Breast invasive adenocarcinoma(234;0.128)	2	609	-			3					A4FU37|B7ZAW5|B7ZKK8|B7ZKK9|J3KQN6|Q52LW4	Missense_Mutation	SNP	ENST00000337537.3	37	c.7T>C	CCDS9758.1	.	.	.	.	.	.	.	.	.	.	A	17.96	3.515611	0.64634	.	.	ENSG00000154001	ENST00000337537;ENST00000555899	.	.	.	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	T	0.40247	0.1109	N	0.08118	0	0.80722	D	1	B;B;B	0.10296	0.001;0.003;0.001	B;B;B	0.04013	0.001;0.001;0.001	T	0.29792	-1.0000	9	0.62326	D	0.03	-6.2538	15.5325	0.75974	1.0:0.0:0.0:0.0	.	3;3;3	B7ZKK9;B7Z5X1;Q16537	.;.;2A5E_HUMAN	P	3	.	ENSP00000337641:S3P	S	-	1	0	PPP2R5E	63076150	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.703000	0.91344	2.053000	0.61076	0.528000	0.53228	TCA		0.418	PPP2R5E-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276973.1	NM_006246		14	48	0	0	0	1	0	14	48					G	64006397	A	G	64006397	3	3	134	1	0	0	0	0	1	0	0	0	12396	304	11	4	1448	4	PPP2R5E	14	64006397	Missense_Mutation	SNP	A	TCGA-EJ-A8FN-01A-11D-A34U-08		64006397	43343143	32	6853											
BBS4	585	broad.mit.edu	37	chr15	73007695	73007695	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	actcttccagacatgtgcagTtcttagtcctcagagtgctg	8	13	9	11	0	3	2	1	0	2	2	5	2	5	2	2	0	2	3	2	0	1	3			TCGA-EJ-A8FN-01A-11D-A34U-08	TCGA-EJ-A8FN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4526e2b2-d20d-4290-baf5-8d331fce6902	626f7f57-e6e8-4413-8a05-942c859a6d61	g.chr15:73007695T>A	ENST00000268057.4	+	5	325	c.284T>A	c.(283-285)gTt>gAt	p.V95D	BBS4_ENST00000564239.1_3'UTR|BBS4_ENST00000542334.1_5'UTR|BBS4_ENST00000395205.2_Missense_Mutation_p.V103D|BBS4_ENST00000539603.1_Missense_Mutation_p.V83D	NM_033028.4	NP_149017.2	Q96RK4	BBS4_HUMAN	Bardet-Biedl syndrome 4	95					adult behavior (GO:0030534)|brain morphogenesis (GO:0048854)|centrosome organization (GO:0051297)|cerebral cortex development (GO:0021987)|cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|convergent extension involved in gastrulation (GO:0060027)|dendrite development (GO:0016358)|fat cell differentiation (GO:0045444)|heart looping (GO:0001947)|hippocampus development (GO:0021766)|intracellular transport (GO:0046907)|maintenance of protein location in nucleus (GO:0051457)|melanosome transport (GO:0032402)|metabolic process (GO:0008152)|microtubule anchoring at centrosome (GO:0034454)|microtubule cytoskeleton organization (GO:0000226)|mitotic cytokinesis (GO:0000281)|negative regulation of appetite by leptin-mediated signaling pathway (GO:0038108)|negative regulation of gene expression (GO:0010629)|negative regulation of systemic arterial blood pressure (GO:0003085)|neural tube closure (GO:0001843)|nonmotile primary cilium assembly (GO:0035058)|photoreceptor cell maintenance (GO:0045494)|pigment granule aggregation in cell center (GO:0051877)|positive regulation of cilium assembly (GO:0045724)|positive regulation of multicellular organism growth (GO:0040018)|protein localization to centrosome (GO:0071539)|protein localization to organelle (GO:0033365)|protein transport (GO:0015031)|regulation of cilium beat frequency involved in ciliary motility (GO:0060296)|regulation of cytokinesis (GO:0032465)|regulation of lipid metabolic process (GO:0019216)|retina homeostasis (GO:0001895)|retinal rod cell development (GO:0046548)|sensory perception of smell (GO:0007608)|sensory processing (GO:0050893)|spermatid development (GO:0007286)|striatum development (GO:0021756)|visual perception (GO:0007601)	BBSome (GO:0034464)|centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|ciliary membrane (GO:0060170)|cilium (GO:0005929)|motile cilium (GO:0031514)|nonmotile primary cilium (GO:0031513)|pericentriolar material (GO:0000242)	alpha-tubulin binding (GO:0043014)|beta-tubulin binding (GO:0048487)|dynactin binding (GO:0034452)|microtubule motor activity (GO:0003777)|RNA polymerase II repressing transcription factor binding (GO:0001103)			autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|prostate(2)|urinary_tract(1)	19						ACATGTGCAGTTCTTAGTCCT	0.433									Bardet-Biedl syndrome																													ENST00000268057.4																			0				autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|prostate(2)|urinary_tract(1)	19						c.(283-285)gTt>gAt		Bardet-Biedl syndrome 4							133	127	129					15																	73007695		2198	4297	6495	SO:0001583	missense	585	Bardet-Biedl syndrome	Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome	adult behavior|brain morphogenesis|cell cycle cytokinesis|centrosome organization|cerebral cortex development|convergent extension involved in gastrulation|dendrite development|fat cell differentiation|heart looping|hippocampus development|intracellular transport|maintenance of protein location in nucleus|melanosome transport|microtubule anchoring at centrosome|neural tube closure|nonmotile primary cilium assembly|photoreceptor cell maintenance|pigment granule aggregation in cell center|positive regulation of flagellum assembly|regulation of cilium beat frequency involved in ciliary motility|regulation of cytokinesis|regulation of lipid metabolic process|retina homeostasis|retinal rod cell development|sensory perception of smell|sensory processing|spermatid development|striatum development	BBSome|centriolar satellite|centriole|cilium membrane|microtubule basal body|motile cilium|nonmotile primary cilium|nucleus|pericentriolar material	alpha-tubulin binding|beta-tubulin binding|dynactin binding|microtubule motor activity	g.chr15:73007695T>A	AF090947	CCDS10246.1, CCDS58377.1	15q22.3-q23	2013-01-10			ENSG00000140463	ENSG00000140463		"Tetratricopeptide (TTC) repeat domain containing"	969	protein-coding gene	gene with protein product		600374				7711739, 11381270	Standard	NM_033028		Approved		uc002avb.3	Q96RK4	OTTHUMG00000133510	ENST00000268057.4:c.284T>A	15.37:g.73007695T>A	ENSP00000268057:p.Val95Asp					BBS4_ENST00000564239.1_3'UTR|BBS4_ENST00000539603.1_Missense_Mutation_p.V83D|BBS4_ENST00000542334.1_5'UTR|BBS4_ENST00000395205.2_Missense_Mutation_p.V103D	p.V95D	NM_033028.4	NP_149017.2	Q96RK4	BBS4_HUMAN			5	325	+			95					B4E178|Q53DZ5|Q8NHU9|Q96H45	Missense_Mutation	SNP	ENST00000268057.4	37	c.284T>A	CCDS10246.1	.	.	.	.	.	.	.	.	.	.	T	14.31	2.498195	0.44455	.	.	ENSG00000140463	ENST00000268057;ENST00000539603;ENST00000395205	T;T;T	0.62364	0.03;0.03;0.03	5.36	5.36	0.76844	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.298002	0.37715	N	0.001976	T	0.53642	0.1809	L	0.44542	1.39	0.80722	D	1	B;P;B	0.35208	0.016;0.49;0.02	B;B;B	0.36289	0.088;0.221;0.032	T	0.50285	-0.8846	10	0.15066	T	0.55	-1.947	14.3512	0.66702	0.0:0.0:0.0:1.0	.	83;103;95	F5H7I8;Q96RK4-2;Q96RK4	.;.;BBS4_HUMAN	D	95;83;103	ENSP00000268057:V95D;ENSP00000442492:V83D;ENSP00000378631:V103D	ENSP00000268057:V95D	V	+	2	0	BBS4	70794748	1.000000	0.71417	0.959000	0.39883	0.707000	0.40811	7.043000	0.76572	2.045000	0.60652	0.460000	0.39030	GTT		0.433	BBS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257473.2	NM_033028		16	33	0	0	0	1	0	16	33					A	73007695	T	A	73007695	3	1	134	1	0	0	0	0	1	0	0	0	1339	1725	60	5	302	5	BBS4	15	73007695	Missense_Mutation	SNP	T	TCGA-EJ-A8FN-01A-11D-A34U-08		73007695	29523697	33	6854											
MAN2C1	4123	broad.mit.edu	37	chr15	75651127	75651127	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagcacaaactggttccccaCggcgccctcagcaatggcct	9	7	9	16	2	1	0	1	0	0	0	2	0	2	0	4	3	3	3	4	3	3	2	rs140277288		TCGA-EJ-A8FN-01A-11D-A34U-08	TCGA-EJ-A8FN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4526e2b2-d20d-4290-baf5-8d331fce6902	626f7f57-e6e8-4413-8a05-942c859a6d61	g.chr15:75651127C>T	ENST00000267978.5	-	19	2210	c.2164G>A	c.(2164-2166)Gtg>Atg	p.V722M	MAN2C1_ENST00000569482.1_Missense_Mutation_p.V722M|MAN2C1_ENST00000563622.1_Missense_Mutation_p.V623M|MAN2C1_ENST00000565683.1_Missense_Mutation_p.V739M	NM_006715.3	NP_006706.2	Q9NTJ4	MA2C1_HUMAN	mannosidase, alpha, class 2C, member 1	722					mannose metabolic process (GO:0006013)		alpha-mannosidase activity (GO:0004559)|carbohydrate binding (GO:0030246)|zinc ion binding (GO:0008270)			central_nervous_system(4)|endometrium(4)|kidney(6)|large_intestine(6)|lung(20)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	44						TGGTTCCCCACGGCGCCCTCA	0.572													C|||	1	0.000199681	8e-04	0	5008	,	,		20675	0		0	False		,,,				2504	0					ENST00000565683.1																			0				central_nervous_system(4)|endometrium(4)|kidney(6)|large_intestine(6)|lung(20)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	44						c.(2215-2217)Gtg>Atg		mannosidase, alpha, class 2C, member 1		C	MET/VAL	6,4388	12.9+/-30.5	0,6,2191	110	76	88		2164	1.5	0.6	15	dbSNP_134	88	0,8588		0,0,4294	yes	missense	MAN2C1	NM_006715.2	21	0,6,6485	TT,TC,CC		0.0,0.1365,0.0462	benign	722/1041	75651127	6,12976	2197	4294	6491	SO:0001583	missense	4123				mannose metabolic process		alpha-mannosidase activity|carbohydrate binding|protein binding|zinc ion binding	g.chr15:75651127C>T	AF044414	CCDS32298.1, CCDS58389.1, CCDS58390.1, CCDS58391.1	15q24.2	2013-09-19			ENSG00000140400	ENSG00000140400	3.2.1.24		6827	protein-coding gene	gene with protein product		154580		MANA1, MANA		1757461, 752528	Standard	NM_006715		Approved		uc002bah.4	Q9NTJ4	OTTHUMG00000172698	ENST00000267978.5:c.2164G>A	15.37:g.75651127C>T	ENSP00000267978:p.Val722Met					MAN2C1_ENST00000267978.5_Missense_Mutation_p.V722M|MAN2C1_ENST00000563622.1_Missense_Mutation_p.V623M|MAN2C1_ENST00000569482.1_Missense_Mutation_p.V722M	p.V739M	NM_001256494.1	NP_001243423.1	Q9NTJ4	MA2C1_HUMAN			19	2226	-			722					H3BMX2|H3BQY8|H3BUT6|Q13358|Q68EM8|Q9UL64	Missense_Mutation	SNP	ENST00000267978.5	37	c.2215G>A	CCDS32298.1	.	.	.	.	.	.	.	.	.	.	C	10.71	1.426085	0.25726	0.001365	0.0	ENSG00000140400	ENST00000267978	T	0.18338	2.22	5.72	1.45	0.22620	Glycosyl hydrolases 38, C-terminal (1);Glycoside hydrolase-type carbohydrate-binding (1);	0.879792	0.10190	N	0.704731	T	0.11452	0.0279	L	0.42245	1.32	0.09310	N	1	P;P	0.42941	0.794;0.643	B;B	0.37198	0.243;0.243	T	0.21109	-1.0255	10	0.34782	T	0.22	-7.1219	2.4186	0.04442	0.2438:0.3718:0.2853:0.0991	.	722;722	Q68EM8;Q9NTJ4	.;MA2C1_HUMAN	M	722	ENSP00000267978:V722M	ENSP00000267978:V722M	V	-	1	0	MAN2C1	73438180	0.004000	0.15560	0.587000	0.28692	0.805000	0.45488	1.083000	0.30815	0.765000	0.33221	0.561000	0.74099	GTG		0.572	MAN2C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419965.1			3	41	0	0	0	1	0	3	41					T	75651127	C	T	75651127	3	4	134	1	0	0	0	0	1	0	0	0	9218	536	19	1	990	1	MAN2C1	15	75651127	Missense_Mutation	SNP	C	TCGA-EJ-A8FN-01A-11D-A34U-08	2643432	75651127	26880265	34	6855											
ITFG1	81533	broad.mit.edu	37	chr16	47493029	47493029	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cttacttgaaagatacctttActttgggtttaaaatagggt	12	16	8	5	0	0	2	0	1	0	1	0	2	0	2	1	2	3	1	1	2	7	9			TCGA-EJ-A8FN-01A-11D-A34U-08	TCGA-EJ-A8FN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4526e2b2-d20d-4290-baf5-8d331fce6902	626f7f57-e6e8-4413-8a05-942c859a6d61	g.chr16:47493029A>G	ENST00000320640.6	-	2	494	c.266T>C	c.(265-267)gTa>gCa	p.V89A	PHKB_ENST00000566044.1_5'Flank|PHKB_ENST00000299167.8_5'Flank|PHKB_ENST00000323584.5_5'Flank|ITFG1_ENST00000544001.2_5'UTR|PHKB_ENST00000455779.1_5'Flank	NM_030790.3	NP_110417.2	Q8TB96	TIP_HUMAN	integrin alpha FG-GAP repeat containing 1	89						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	19		all_cancers(37;0.0613)|all_lung(18;0.0543)|Lung NSC(13;0.227)				AGATACCTTTACTTTGGGTTT	0.274																																						ENST00000320640.6																			0				breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	19						c.(265-267)gTa>gCa		integrin alpha FG-GAP repeat containing 1							51	58	56					16																	47493029		2201	4295	6496	SO:0001583	missense	81533					extracellular region|integral to membrane		g.chr16:47493029A>G	AF503339	CCDS10728.1	16q12.1	2008-02-05			ENSG00000129636	ENSG00000129636			30697	protein-coding gene	gene with protein product	"T cell immunomodulatory protein"	611803				12598909	Standard	NM_030790		Approved	CDA08, TIP	uc002eet.3	Q8TB96	OTTHUMG00000133103	ENST00000320640.6:c.266T>C	16.37:g.47493029A>G	ENSP00000319918:p.Val89Ala					ITFG1_ENST00000544001.2_5'UTR	p.V89A	NM_030790.3	NP_110417.2	Q8TB96	TIP_HUMAN			2	494	-		all_cancers(37;0.0613)|all_lung(18;0.0543)|Lung NSC(13;0.227)	89					Q96SR4|Q9BRE2|Q9H2V9	Missense_Mutation	SNP	ENST00000320640.6	37	c.266T>C	CCDS10728.1	.	.	.	.	.	.	.	.	.	.	A	15.97	2.988529	0.53934	.	.	ENSG00000129636	ENST00000320640	T	0.22336	1.96	5.14	5.14	0.70334	.	0.000000	0.64402	D	0.000002	T	0.16557	0.0398	L	0.43152	1.355	0.80722	D	1	B	0.33637	0.42	B	0.30782	0.12	T	0.02868	-1.1100	10	0.07813	T	0.8	-7.97	14.1568	0.65422	1.0:0.0:0.0:0.0	.	89	Q8TB96	TIP_HUMAN	A	89	ENSP00000319918:V89A	ENSP00000319918:V89A	V	-	2	0	ITFG1	46050530	1.000000	0.71417	0.988000	0.46212	0.552000	0.35366	7.208000	0.77907	1.932000	0.55993	0.533000	0.62120	GTA		0.274	ITFG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256768.3	NM_030790		14	57	0	0	0	1	0	14	57					G	47493029	A	G	47493029	3	3	134	1	0	0	0	0	1	0	0	0	7869	391	14	4	1640	4	ITFG1	16	47493029	Missense_Mutation	SNP	A	TCGA-EJ-A8FN-01A-11D-A34U-08		47493029	42861724	35	6856											
DYNC1LI2	1783	broad.mit.edu	37	chr16	66770010	66770010	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caccaacaccgggatccccaGgttatgagtcagcacattgt	11	8	9	13	1	1	1	1	1	0	0	2	2	2	2	4	2	2	2	4	2	2	2			TCGA-EJ-A8FN-01A-11D-A34U-08	TCGA-EJ-A8FN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4526e2b2-d20d-4290-baf5-8d331fce6902	626f7f57-e6e8-4413-8a05-942c859a6d61	g.chr16:66770010G>A	ENST00000258198.2	-	5	873	c.667C>T	c.(667-669)Ctg>Ttg	p.L223L	DYNC1LI2_ENST00000440564.2_Silent_p.L184L|RP11-63M22.1_ENST00000565082.1_lincRNA|DYNC1LI2_ENST00000443351.2_Silent_p.L146L|DYNC1LI2_ENST00000379482.2_Intron	NM_006141.2	NP_006132.1	O43237	DC1L2_HUMAN	dynein, cytoplasmic 1, light intermediate chain 2	223					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|centrosome localization (GO:0051642)|microtubule cytoskeleton organization (GO:0000226)|microtubule-based movement (GO:0007018)|transport (GO:0006810)	centrosome (GO:0005813)|cytoplasmic dynein complex (GO:0005868)|cytosol (GO:0005829)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			central_nervous_system(3)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|skin(4)|stomach(1)	15		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0907)|Epithelial(162;0.212)		GGGATCCCCAGGTTATGAGTC	0.552																																						ENST00000258198.2																			0				central_nervous_system(3)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|skin(4)|stomach(1)	15						c.(667-669)Ctg>Ttg		dynein, cytoplasmic 1, light intermediate chain 2							140	125	130					16																	66770010		2200	4300	6500	SO:0001819	synonymous_variant	1783				transport	centrosome|cytoplasmic dynein complex|microtubule	ATP binding|motor activity	g.chr16:66770010G>A	AF035812	CCDS10818.1, CCDS67049.1	16q22.1	2008-02-05	2005-11-25	2005-11-25	ENSG00000135720	ENSG00000135720		"Cytoplasmic dyneins"	2966	protein-coding gene	gene with protein product		611406	"dynein, cytoplasmic, light intermediate polypeptide 2"	DNCLI2		16260502	Standard	NM_006141		Approved		uc002eqb.1	O43237	OTTHUMG00000137523	ENST00000258198.2:c.667C>T	16.37:g.66770010G>A						DYNC1LI2_ENST00000440564.2_Silent_p.L184L|DYNC1LI2_ENST00000379482.2_Intron|DYNC1LI2_ENST00000443351.2_Silent_p.L146L	p.L223L	NM_006141.2	NP_006132.1	O43237	DC1L2_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0907)|Epithelial(162;0.212)	5	873	-		Ovarian(137;0.0563)	223					A8K6V1|B4DZP4|Q8TAT3	Silent	SNP	ENST00000258198.2	37	c.667C>T	CCDS10818.1																																																																																				0.552	DYNC1LI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268846.1	NM_006141		4	50	0	0	0	1	0	4	50					A	66770010	G	A	66770010	2	1	134	1	0	0	0	0	0	0	0	1	4845	991	35	3		3	DYNC1LI2	16	66770010	Silent	SNP	G	TCGA-EJ-A8FN-01A-11D-A34U-08	19276981	66770010	23584743	36	6857											
BAHCC1	57597	broad.mit.edu	37	chr17	79409111	79409111	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagcggcagaggaggacggtGgcaaggagcggcacaagctg	11	2	19	9	3	0	1	0	0	0	1	0	4	0	4	0	7	3	4	0	7	2	0			TCGA-EJ-A8FN-01A-11D-A34U-08	TCGA-EJ-A8FN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4526e2b2-d20d-4290-baf5-8d331fce6902	626f7f57-e6e8-4413-8a05-942c859a6d61	g.chr17:79409111G>A	ENST00000307745.7	+	9	736	c.736G>A	c.(736-738)Ggc>Agc	p.G246S																								GGAGGACGGTGGCAAGGAGCG	0.721																																						ENST00000307745.7																			0											c.(736-738)Ggc>Agc									9	13	12					17																	79409111		2066	4149	6215	SO:0001583	missense	0							g.chr17:79409111G>A																												ENST00000307745.7:c.736G>A	17.37:g.79409111G>A	ENSP00000303486:p.Gly246Ser						p.G246S							9	736	+									Missense_Mutation	SNP	ENST00000307745.7	37	c.736G>A		.	.	.	.	.	.	.	.	.	.	g	8.918	0.960449	0.18583	.	.	ENSG00000171282	ENST00000307745	T	0.10192	2.9	4.39	2.34	0.29019	.	.	.	.	.	T	0.06735	0.0172	L	0.27053	0.805	0.09310	N	1	B	0.12013	0.005	B	0.08055	0.003	T	0.44221	-0.9342	9	0.09338	T	0.73	.	8.3909	0.32528	0.2695:0.0:0.7305:0.0	.	246	Q9P281	BAHC1_HUMAN	S	246	ENSP00000303486:G246S	ENSP00000303486:G246S	G	+	1	0	AC110285.1	77023706	0.000000	0.05858	0.022000	0.16811	0.591000	0.36615	0.303000	0.19210	0.405000	0.25532	0.298000	0.19748	GGC		0.721	RP11-1055B8.7-201	KNOWN	basic|appris_principal	protein_coding	protein_coding				3	14	0	0	0	1	0	3	14					A	79409111	G	A	79409111	3	1	134	1	0	0	0	0	1	0	0	0	1296	1348	47	3	585	3	BAHCC1	17	79409111	Missense_Mutation	SNP	G	TCGA-EJ-A8FN-01A-11D-A34U-08		79409111	1786099	37	6858											
MLL4	9757	broad.mit.edu	37	chr19	36213342	36213342	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gccctgtccggtctgaagatGagtcggtggaagctaagaga	10	8	15	8	2	1	4	0	2	1	2	3	6	2	5	2	3	1	1	2	3	3	1			TCGA-EJ-A8FN-01A-11D-A34U-08	TCGA-EJ-A8FN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4526e2b2-d20d-4290-baf5-8d331fce6902	626f7f57-e6e8-4413-8a05-942c859a6d61	g.chr19:36213342G>A	ENST00000222270.7	+	4	2539	c.2539G>A	c.(2539-2541)Gag>Aag	p.E847K	KMT2B_ENST00000420124.1_Missense_Mutation_p.E847K|KMT2B_ENST00000607650.1_RNA	NM_014727.1	NP_055542.1	Q9UMN6	KMT2B_HUMAN	lysine (K)-specific methyltransferase 2B	847					chromatin-mediated maintenance of transcription (GO:0048096)|gene silencing (GO:0016458)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|oocyte differentiation (GO:0009994)|ovarian follicle development (GO:0001541)|ovulation (GO:0030728)|regulation of histone H3-K4 methylation (GO:0051569)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)										GTCTGAAGATGAGTCGGTGGA	0.637																																						ENST00000420124.1																			0											c.(2539-2541)Gag>Aag									45	49	48					19																	36213342		1944	4129	6073	SO:0001583	missense	0							g.chr19:36213342G>A	AJ007041	CCDS46055.1	19q13.1	2014-02-18			ENSG00000105663	ENSG00000272333		"Chromatin-modifying enzymes / K-methyltransferases"	15840	protein-coding gene	gene with protein product	"myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila) 4"	606834				10409430, 10637508	Standard	XM_006723513		Approved	KIAA0304, MLL2, TRX2, HRX2, WBP7, MLL1B, MLL4		Q9UMN6	OTTHUMG00000048119	ENST00000222270.7:c.2539G>A	19.37:g.36213342G>A	ENSP00000222270:p.Glu847Lys					WBP7_ENST00000222270.7_Missense_Mutation_p.E847K|KMT2B_ENST00000607650.1_RNA	p.E847K							4	2539	+								O15022|O95836|Q96GP2|Q96IP3|Q9UK25|Q9Y668|Q9Y669	Missense_Mutation	SNP	ENST00000222270.7	37	c.2539G>A	CCDS46055.1	.	.	.	.	.	.	.	.	.	.	G	10.94	1.491526	0.26774	.	.	ENSG00000105663	ENST00000222270;ENST00000420124	D;D	0.82433	-1.61;-1.61	5.92	4.83	0.62350	.	0.000000	0.41294	D	0.000909	T	0.74680	0.3748	L	0.36672	1.1	0.34303	D	0.684586	P	0.43094	0.799	B	0.38378	0.272	T	0.83113	-0.0122	10	0.56958	D	0.05	.	12.2498	0.54591	0.0:0.1704:0.8296:0.0	.	847	Q9UMN6	MLL4_HUMAN	K	847	ENSP00000222270:E847K;ENSP00000398837:E847K	ENSP00000222270:E847K	E	+	1	0	AD000671.1	40905182	1.000000	0.71417	1.000000	0.80357	0.447000	0.32167	4.235000	0.58666	2.804000	0.96469	0.655000	0.94253	GAG		0.637	KMT2B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_014727		6	18	0	0	0	1	0	6	18					A	36213342	G	A	36213342	3	1	134	1	0	0	0	0	1	0	0	0	9623	1291	45	3	2553	3	MLL4	19	36213342	Missense_Mutation	SNP	G	TCGA-EJ-A8FN-01A-11D-A34U-08		36213342	22915641	38	6859											
ATP5SL	55101	broad.mit.edu	37	chr19	41939481	41939481	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtagttgatgtcacagtcacCggcatccacagcttcgacag	10	9	10	12	2	2	1	2	1	0	0	4	2	3	1	2	1	1	4	2	1	1	3			TCGA-EJ-A8FN-01A-11D-A34U-08	TCGA-EJ-A8FN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4526e2b2-d20d-4290-baf5-8d331fce6902	626f7f57-e6e8-4413-8a05-942c859a6d61	g.chr19:41939481C>T	ENST00000221943.9	-	4	399	c.394G>A	c.(394-396)Ggt>Agt	p.G132S	ATP5SL_ENST00000301183.11_Missense_Mutation_p.G138S|ATP5SL_ENST00000417807.3_Missense_Mutation_p.G138S|ATP5SL_ENST00000590641.2_Missense_Mutation_p.G111S|ATP5SL_ENST00000438807.3_Missense_Mutation_p.G105S|ATP5SL_ENST00000592922.2_Missense_Mutation_p.G105S|ATP5SL_ENST00000595425.1_Missense_Mutation_p.G105S|ATP5SL_ENST00000589970.1_Missense_Mutation_p.G132S|ATP5SL_ENST00000597457.1_Missense_Mutation_p.G105S	NM_018035.2	NP_060505.2	Q9NW81	AT5SL_HUMAN	ATP5S-like	132						mitochondrion (GO:0005739)				breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(2)|stomach(1)	11						TCACAGTCACCGGCATCCACA	0.537																																						ENST00000221943.9																			0				breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(2)|stomach(1)	11						c.(394-396)Ggt>Agt		ATP5S-like							196	181	186					19																	41939481		2203	4300	6503	SO:0001583	missense	55101							g.chr19:41939481C>T	AK001103	CCDS33032.1, CCDS54269.1, CCDS54270.1, CCDS54271.1, CCDS59389.1, CCDS59390.1	19q13.2	2007-12-13				ENSG00000105341			25496	protein-coding gene	gene with protein product						12477932	Standard	NM_001167867		Approved	FLJ10241	uc002oqv.3	Q9NW81		ENST00000221943.9:c.394G>A	19.37:g.41939481C>T	ENSP00000221943:p.Gly132Ser					ATP5SL_ENST00000597457.1_Missense_Mutation_p.G105S|ATP5SL_ENST00000595425.1_Missense_Mutation_p.G105S|ATP5SL_ENST00000592922.2_Missense_Mutation_p.G105S|ATP5SL_ENST00000590641.2_Missense_Mutation_p.G111S|ATP5SL_ENST00000589970.1_Missense_Mutation_p.G132S|ATP5SL_ENST00000438807.3_Missense_Mutation_p.G105S|ATP5SL_ENST00000417807.3_Missense_Mutation_p.G138S|ATP5SL_ENST00000301183.11_Missense_Mutation_p.G138S	p.G132S	NM_018035.2	NP_060505.2	Q9NW81	AT5SL_HUMAN			4	399	-			132					B4DDC0|B4DMZ4|B4DP55|B4DXE8|F5H4W7|K7EMF6|Q96D43	Missense_Mutation	SNP	ENST00000221943.9	37	c.394G>A	CCDS33032.1	.	.	.	.	.	.	.	.	.	.	T	0.374	-0.932566	0.02359	.	.	ENSG00000105341	ENST00000221943;ENST00000438807;ENST00000417807;ENST00000301183;ENST00000507129	T;T;T;T	0.73897	-0.79;2.51;-0.79;2.34	3.8	3.8	0.43715	.	0.000000	0.85682	N	0.000000	T	0.20210	0.0486	N	0.00005	-3.29	0.19775	N	0.999958	B;B;B;B;B;B;B	0.10296	0.0;0.0;0.0;0.0;0.0;0.003;0.003	B;B;B;B;B;B;B	0.06405	0.0;0.0;0.0;0.0;0.0;0.002;0.002	T	0.48917	-0.8992	10	0.02654	T	1	-10.8946	8.5114	0.33220	0.0:0.0969:0.0:0.9031	.	111;138;105;132;105;132;138	B4DFT4;B4DDC0;Q9NW81-2;B4DMZ4;E9PDC6;Q9NW81;F5H4W7	.;.;.;.;.;AT5SL_HUMAN;.	S	132;105;138;138;208	ENSP00000221943:G132S;ENSP00000397413:G105S;ENSP00000403910:G138S;ENSP00000301183:G138S	ENSP00000221943:G132S	G	-	1	0	ATP5SL	46631321	1.000000	0.71417	1.000000	0.80357	0.053000	0.15095	1.626000	0.37039	0.630000	0.30394	-0.521000	0.04368	GGT		0.537	ATP5SL-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460602.1	NM_018035		44	114	0	0	0	1	0	44	114					T	41939481	C	T	41939481	3	4	134	1	0	0	0	0	1	0	0	0	1164	652	23	2	391	2	ATP5SL	19	41939481	Missense_Mutation	SNP	C	TCGA-EJ-A8FN-01A-11D-A34U-08	5726139	41939481	17189502	39	6860											
PSG4	5672	broad.mit.edu	37	chr19	43698504	43698504	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccacttaccagagactttgaCtgtgatggatttggagcttt	9	14	10	8	0	0	3	0	2	0	1	0	6	0	5	2	2	2	1	2	2	1	4			TCGA-EJ-A8FN-01A-11D-A34U-08	TCGA-EJ-A8FN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4526e2b2-d20d-4290-baf5-8d331fce6902	626f7f57-e6e8-4413-8a05-942c859a6d61	g.chr19:43698504C>T	ENST00000405312.3	-	5	1468	c.1231G>A	c.(1231-1233)Gtc>Atc	p.V411I	PSG4_ENST00000244295.9_Missense_Mutation_p.V318I|PSG4_ENST00000433626.2_Missense_Mutation_p.V318I	NM_002780.3	NP_002771.2	Q00888	PSG4_HUMAN	pregnancy specific beta-1-glycoprotein 4	411					female pregnancy (GO:0007565)	extracellular vesicular exosome (GO:0070062)				central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	24		Prostate(69;0.00682)				GAGACTTTGACTGTGATGGAT	0.453																																						ENST00000405312.3																			0				central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	24						c.(1231-1233)Gtc>Atc		pregnancy specific beta-1-glycoprotein 4							228	224	225					19																	43698504		2203	4295	6498	SO:0001583	missense	5672				defense response|female pregnancy	extracellular region		g.chr19:43698504C>T		CCDS33039.1, CCDS46093.1, CCDS62695.1	19q13.2	2013-01-29			ENSG00000243137	ENSG00000243137		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	9521	protein-coding gene	gene with protein product	"pregnancy-specific beta-1-glycoprotein 4"	176393				2783133	Standard	NM_002780		Approved		uc002ovy.4	Q00888	OTTHUMG00000151544	ENST00000405312.3:c.1231G>A	19.37:g.43698504C>T	ENSP00000384770:p.Val411Ile					PSG4_ENST00000433626.2_Missense_Mutation_p.V318I|PSG4_ENST00000244295.9_Missense_Mutation_p.V318I	p.V411I	NM_002780.3	NP_002771.2	Q00888	PSG4_HUMAN			5	1468	-		Prostate(69;0.00682)	411					E7EX79|Q13047|Q13048|Q15234|Q15240|Q9UQ76	Missense_Mutation	SNP	ENST00000405312.3	37	c.1231G>A	CCDS46093.1	.	.	.	.	.	.	.	.	.	.	c	3.407	-0.120978	0.06838	.	.	ENSG00000243137	ENST00000244295;ENST00000405312;ENST00000433626	T;T;T	0.15017	2.46;2.46;2.46	1.18	-1.7	0.08159	Immunoglobulin-like fold (1);	.	.	.	.	T	0.14527	0.0351	N	0.21508	0.67	0.09310	N	1	B;B;B	0.30114	0.269;0.003;0.06	P;B;B	0.49708	0.62;0.058;0.152	T	0.45293	-0.9271	9	0.02654	T	1	.	4.3548	0.11172	0.0:0.5608:0.0:0.4392	.	318;318;411	E7EX79;Q00888-2;Q00888	.;.;PSG4_HUMAN	I	318;411;318	ENSP00000244295:V318I;ENSP00000384770:V411I;ENSP00000387864:V318I	ENSP00000244295:V318I	V	-	1	0	PSG4	48390344	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	-2.158000	0.01281	-0.300000	0.08895	-0.550000	0.04213	GTC		0.453	PSG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323073.1	NM_213633		76	210	0	0	0	1	0	76	210					T	43698504	C	T	43698504	3	4	134	1	0	0	0	0	1	0	0	0	12657	565	20	3	36	3	PSG4	19	43698504	Missense_Mutation	SNP	C	TCGA-EJ-A8FN-01A-11D-A34U-08	1759023	43698504	15430479	40	6861											
SIGLEC9	27180	broad.mit.edu	37	chr19	51629378	51629378	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgactgtcttccaaggagaCggcacaggtaggatggagct	11	8	14	8	1	1	2	0	1	1	1	2	5	2	4	1	5	1	3	1	5	2	2			TCGA-EJ-A8FN-01A-11D-A34U-08	TCGA-EJ-A8FN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4526e2b2-d20d-4290-baf5-8d331fce6902	626f7f57-e6e8-4413-8a05-942c859a6d61	g.chr19:51629378C>T	ENST00000250360.3	+	3	808	c.741C>T	c.(739-741)gaC>gaT	p.D247D	SIGLEC9_ENST00000440804.3_Silent_p.D247D	NM_014441.2	NP_055256.1	Q9Y336	SIGL9_HUMAN	sialic acid binding Ig-like lectin 9	247	Ig-like C2-type 2.				cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)	integral component of plasma membrane (GO:0005887)	carbohydrate binding (GO:0030246)			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(3)|lung(25)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	45		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.000826)|OV - Ovarian serous cystadenocarcinoma(262;0.00295)		TCCAAGGAGACGGCACAGGTA	0.597																																						ENST00000440804.3																			0				NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(3)|lung(25)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	45						c.(739-741)gaC>gaT		sialic acid binding Ig-like lectin 9							103	91	95					19																	51629378		2203	4300	6503	SO:0001819	synonymous_variant	27180				cell adhesion|cell surface receptor linked signaling pathway	integral to plasma membrane	sugar binding	g.chr19:51629378C>T	AF135027	CCDS12825.1, CCDS56100.1	19q13.3-q13.4	2013-01-29			ENSG00000129450	ENSG00000129450		"Sialic acid binding Ig-like lectins", "CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	10878	protein-coding gene	gene with protein product		605640				10903842	Standard	NM_014441		Approved	CD329	uc002pvu.3	Q9Y336		ENST00000250360.3:c.741C>T	19.37:g.51629378C>T						SIGLEC9_ENST00000250360.3_Silent_p.D247D	p.D247D	NM_001198558.1	NP_001185487.1	Q9Y336	SIGL9_HUMAN		GBM - Glioblastoma multiforme(134;0.000826)|OV - Ovarian serous cystadenocarcinoma(262;0.00295)	3	808	+		all_neural(266;0.0529)	247			Ig-like C2-type 2.		Q6GTU4|Q9BYI9	Silent	SNP	ENST00000250360.3	37	c.741C>T	CCDS12825.1																																																																																				0.597	SIGLEC9-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000464224.1	NM_014441		15	67	0	0	0	1	0	15	67					T	51629378	C	T	51629378	2	4	134	1	0	0	0	0	0	0	0	1	14315	535	19	1		1	SIGLEC9	19	51629378	Silent	SNP	C	TCGA-EJ-A8FN-01A-11D-A34U-08	7930874	51629378	7499605	41	6862											
PRPF31	26121	broad.mit.edu	37	chr19	54627954	54627954	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctcggggcccagcgcaagacGctgtcgggcttctcgtctac	5	8	13	15	5	2	1	0	0	2	1	5	1	2	1	1	3	2	3	1	3	2	2			TCGA-EJ-A8FN-01A-11D-A34U-08	TCGA-EJ-A8FN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4526e2b2-d20d-4290-baf5-8d331fce6902	626f7f57-e6e8-4413-8a05-942c859a6d61	g.chr19:54627954G>A	ENST00000321030.4	+	8	1123	c.774G>A	c.(772-774)acG>acA	p.T258T	PRPF31_ENST00000498612.1_3'UTR|AC012314.8_ENST00000452097.1_RNA|PRPF31_ENST00000419967.1_Silent_p.T258T|PRPF31_ENST00000391755.1_Silent_p.T258T	NM_015629.3	NP_056444.3	Q8WWY3	PRP31_HUMAN	pre-mRNA processing factor 31	258	Nop. {ECO:0000255|PROSITE- ProRule:PRU00690}.				mRNA splicing, via spliceosome (GO:0000398)|spliceosomal tri-snRNP complex assembly (GO:0000244)	Cajal body (GO:0015030)|MLL1 complex (GO:0071339)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|U2-type spliceosomal complex (GO:0005684)|U4 snRNP (GO:0005687)|U4/U6 x U5 tri-snRNP complex (GO:0046540)|U4atac snRNP (GO:0005690)	poly(A) RNA binding (GO:0044822)|ribonucleoprotein complex binding (GO:0043021)|snRNP binding (GO:0070990)			breast(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(2)|urinary_tract(3)	12	all_cancers(19;0.00681)|all_epithelial(19;0.00362)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					AGCGCAAGACGCTGTCGGGCT	0.652																																						ENST00000321030.4																			0				breast(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(2)|urinary_tract(3)	12						c.(772-774)acG>acA		pre-mRNA processing factor 31							82	70	74					19																	54627954		2203	4300	6503	SO:0001819	synonymous_variant	26121				assembly of spliceosomal tri-snRNP	Cajal body|MLL1 complex|nuclear speck|U4 snRNP|U4/U6 x U5 tri-snRNP complex|U4atac snRNP	RNA binding|snRNP binding	g.chr19:54627954G>A	AL050369	CCDS12879.1	19q13.4	2013-07-16	2013-06-10		ENSG00000105618	ENSG00000105618			15446	protein-coding gene	gene with protein product		606419	"PRP31 pre-mRNA processing factor 31 homolog (yeast)", "PRP31 pre-mRNA processing factor 31 homolog (S. cerevisiae)"	RP11		11545739	Standard	NM_015629		Approved	NY-BR-99, PRP31, hPrp31, SNRNP61	uc002qdh.2	Q8WWY3	OTTHUMG00000066040	ENST00000321030.4:c.774G>A	19.37:g.54627954G>A						PRPF31_ENST00000498612.1_3'UTR|PRPF31_ENST00000419967.1_Silent_p.T258T|AC012314.8_ENST00000452097.1_RNA|PRPF31_ENST00000391755.1_Silent_p.T258T	p.T258T	NM_015629.3	NP_056444.3	Q8WWY3	PRP31_HUMAN			8	1123	+	all_cancers(19;0.00681)|all_epithelial(19;0.00362)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)		258			Nop.		Q17RB4|Q8N7F9|Q9H271|Q9Y439	Silent	SNP	ENST00000321030.4	37	c.774G>A	CCDS12879.1																																																																																				0.652	PRPF31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000141417.2			14	34	0	0	0	1	0	14	34					A	54627954	G	A	54627954	2	1	134	1	0	0	0	0	0	0	0	1	12566	1074	38	1		1	PRPF31	19	54627954	Silent	SNP	G	TCGA-EJ-A8FN-01A-11D-A34U-08	2998576	54627954	4501029	42	6863											
LILRB5	10990	broad.mit.edu	37	chr19	54760375	54760375	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgccaccagctccagggggTcactgggctctgaccagcct	6	7	12	16	1	2	1	1	1	1	0	4	1	3	1	5	3	2	2	5	3	0	0			TCGA-EJ-A8FN-01A-11D-A34U-08	TCGA-EJ-A8FN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4526e2b2-d20d-4290-baf5-8d331fce6902	626f7f57-e6e8-4413-8a05-942c859a6d61	g.chr19:54760375T>A	ENST00000316219.5	-	3	439	c.332A>T	c.(331-333)gAc>gTc	p.D111V	LILRB5_ENST00000450632.1_Missense_Mutation_p.D111V|LILRB5_ENST00000449561.2_Missense_Mutation_p.D111V|LILRB5_ENST00000345866.6_Missense_Mutation_p.D111V	NM_001081442.1|NM_006840.3	NP_001074911.1|NP_006831.1	O75023	LIRB5_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5	111	Ig-like C2-type 1.|Ig-like C2-type 2.				cell surface receptor signaling pathway (GO:0007166)|defense response (GO:0006952)|immune system process (GO:0002376)	integral component of membrane (GO:0016021)	transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		CTCCAGGGGGTCACTGGGCTC	0.622																																						ENST00000450632.1																			0				NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	56						c.(331-333)gAc>gTc		leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5							99	100	100					19																	54760375		2203	4300	6503	SO:0001583	missense	0				cell surface receptor linked signaling pathway|defense response	integral to membrane	transmembrane receptor activity	g.chr19:54760375T>A	AF025534	CCDS12885.1, CCDS42611.1, CCDS46176.1	19q13.4	2013-01-11			ENSG00000105609	ENSG00000105609		"Leukocyte immunoglobulin-like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6609	protein-coding gene	gene with protein product		604814				9548455	Standard	NM_006840		Approved	LIR-8, LIR8, CD85c	uc002qey.3	O75023	OTTHUMG00000066636	ENST00000316219.5:c.332A>T	19.37:g.54760375T>A	ENSP00000320390:p.Asp111Val					LILRB5_ENST00000449561.2_Missense_Mutation_p.D111V|LILRB5_ENST00000316219.5_Missense_Mutation_p.D111V|LILRB5_ENST00000345866.6_Missense_Mutation_p.D111V	p.D111V			O75023	LIRB5_HUMAN		GBM - Glioblastoma multiforme(193;0.105)	3	409	-	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)		111			Ig-like C2-type 1.|Ig-like C2-type 2.		Q8N760	Missense_Mutation	SNP	ENST00000316219.5	37	c.332A>T	CCDS12885.1	.	.	.	.	.	.	.	.	.	.	T	9.486	1.099372	0.20552	.	.	ENSG00000105609	ENST00000316219;ENST00000450632;ENST00000449561;ENST00000345866	T;T;T;T	0.13089	2.62;2.62;2.62;2.62	3.29	2.23	0.28157	Immunoglobulin-like fold (1);	0.339090	0.25310	N	0.031587	T	0.40222	0.1108	M	0.93420	3.415	0.26939	N	0.966293	D;D;D;D;P	0.64830	0.991;0.981;0.976;0.994;0.671	D;D;D;D;P	0.71870	0.968;0.966;0.975;0.957;0.569	T	0.28267	-1.0049	10	0.87932	D	0	.	5.535	0.17005	0.0:0.1365:0.0:0.8635	.	111;102;111;111;111	C9JMK7;Q8NF80;O75023-2;O75023-3;O75023	.;.;.;.;LIRB5_HUMAN	V	111	ENSP00000320390:D111V;ENSP00000414225:D111V;ENSP00000406478:D111V;ENSP00000263430:D111V	ENSP00000320390:D111V	D	-	2	0	LILRB5	59452187	0.789000	0.28775	0.035000	0.18076	0.034000	0.12701	1.875000	0.39578	0.440000	0.26502	0.477000	0.44152	GAC		0.622	LILRB5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000142877.2			32	93	0	0	0	1	0	32	93					A	54760375	T	A	54760375	3	1	134	1	0	0	0	0	1	0	0	0	8794	1667	58	5	1487	5	LILRB5	19	54760375	Missense_Mutation	SNP	T	TCGA-EJ-A8FN-01A-11D-A34U-08	132421	54760375	4368608	43	6864											
ZNF295	49854	broad.mit.edu	37	chr21	43412284	43412284	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgaaaaccaggcttgccgcGccttaacttaatgatcaggg	11	9	10	11	2	1	2	1	2	0	0	1	2	1	2	3	2	3	1	3	2	4	3	rs368176716		TCGA-EJ-A8FN-01A-11D-A34U-08	TCGA-EJ-A8FN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4526e2b2-d20d-4290-baf5-8d331fce6902	626f7f57-e6e8-4413-8a05-942c859a6d61	g.chr21:43412284G>A	ENST00000310826.5	-	3	2104	c.1921C>T	c.(1921-1923)Cgc>Tgc	p.R641C	ZBTB21_ENST00000398511.3_Missense_Mutation_p.R641C|ZBTB21_ENST00000398505.3_Intron|ZBTB21_ENST00000398499.1_Missense_Mutation_p.R641C|ZBTB21_ENST00000465968.1_Intron	NM_001098402.1	NP_001091872.1	Q9ULJ3	ZBT21_HUMAN	zinc finger and BTB domain containing 21	641					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|methyl-CpG binding (GO:0008327)										GGCTTGCCGCGCCTTAACTTA	0.433													G|||	1	0.000199681	0	0	5008	,	,		18135	0		0	False		,,,				2504	0.001					ENST00000310826.5																			0											c.(1921-1923)Cgc>Tgc		zinc finger and BTB domain containing 21		G	CYS/ARG,CYS/ARG,	2,4404	4.2+/-10.8	0,2,2201	65	64	64		1921,1921,	5.4	1	21		64	0,8600		0,0,4300	no	missense,missense,intron	ZNF295	NM_001098402.1,NM_020727.4,NM_001098403.1	180,180,	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	probably-damaging,probably-damaging,	641/1067,641/1067,	43412284	2,13004	2203	4300	6503	SO:0001583	missense	49854							g.chr21:43412284G>A	AB033053	CCDS13678.1, CCDS42934.1	21q22.3	2013-01-09	2013-01-09	2013-01-09	ENSG00000173276	ENSG00000173276		"-", "BTB/POZ domain containing", "Zinc fingers, C2H2-type"	13083	protein-coding gene	gene with protein product			"zinc finger protein 295"	ZNF295			Standard	NM_020727		Approved	KIAA1227	uc002yzy.4	Q9ULJ3	OTTHUMG00000086789	ENST00000310826.5:c.1921C>T	21.37:g.43412284G>A	ENSP00000308759:p.Arg641Cys					ZBTB21_ENST00000465968.1_Intron|ZBTB21_ENST00000398499.1_Missense_Mutation_p.R641C|ZBTB21_ENST00000398511.3_Missense_Mutation_p.R641C|ZBTB21_ENST00000398505.3_Intron	p.R641C	NM_001098402.1	NP_001091872.1					3	2104	-								Q5R2W1|Q5R2W2|Q6P4R0	Missense_Mutation	SNP	ENST00000310826.5	37	c.1921C>T	CCDS13678.1	.	.	.	.	.	.	.	.	.	.	G	18.84	3.708846	0.68615	4.54E-4	0.0	ENSG00000173276	ENST00000310826;ENST00000398499;ENST00000398511	T;T;T	0.09538	2.97;2.97;2.97	5.44	5.44	0.79542	.	0.000000	0.85682	D	0.000000	T	0.23014	0.0556	N	0.24115	0.695	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.02632	-1.1131	10	0.59425	D	0.04	-18.697	19.2587	0.93959	0.0:0.0:1.0:0.0	.	641	Q9ULJ3	ZN295_HUMAN	C	641	ENSP00000308759:R641C;ENSP00000381512:R641C;ENSP00000381523:R641C	ENSP00000308759:R641C	R	-	1	0	ZNF295	42285353	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.760000	0.74939	2.560000	0.86352	0.591000	0.81541	CGC		0.433	ZBTB21-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195308.1	NM_020727		4	104	0	0	0	1	0	4	104					A	43412284	G	A	43412284	3	1	134	1	0	0	0	0	1	0	0	0	17824	1087	38	1	1283	1	ZNF295	21	43412284	Missense_Mutation	SNP	G	TCGA-EJ-A8FN-01A-11D-A34U-08		43412284	4717611	44	6865											
TTLL12	23170	broad.mit.edu	37	chr22	43576901	43576901	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acctgctgcagctgctggcgCgcgtgctccacacggcacgt	5	7	13	16	5	0	0	0	0	0	0	1	0	1	0	2	2	5	6	2	2	0	0	rs372715406		TCGA-EJ-A8FN-01A-11D-A34U-08	TCGA-EJ-A8FN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4526e2b2-d20d-4290-baf5-8d331fce6902	626f7f57-e6e8-4413-8a05-942c859a6d61	g.chr22:43576901C>T	ENST00000216129.6	-	3	456	c.393G>A	c.(391-393)gcG>gcA	p.A131A		NM_015140.3	NP_055955.1	Q14166	TTL12_HUMAN	tubulin tyrosine ligase-like family, member 12	131					cellular protein modification process (GO:0006464)					central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)	13		Ovarian(80;0.221)|Glioma(61;0.222)				GCTGCTGGCGCGCGTGCTCCA	0.667																																						ENST00000216129.6																			0				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)	13						c.(391-393)gcG>gcA		tubulin tyrosine ligase-like family, member 12		C		0,4406		0,0,2203	49	44	45		393	-3.2	0.8	22		45	1,8595	1.2+/-3.3	0,1,4297	no	coding-synonymous	TTLL12	NM_015140.3		0,1,6500	TT,TC,CC		0.0116,0.0,0.0077		131/645	43576901	1,13001	2203	4298	6501	SO:0001819	synonymous_variant	23170				protein modification process		tubulin-tyrosine ligase activity	g.chr22:43576901C>T	D63487	CCDS14047.1	22q13.31	2013-02-14	2006-02-02		ENSG00000100304	ENSG00000100304		"Tubulin tyrosine ligase-like family"	28974	protein-coding gene	gene with protein product						15890843	Standard	NM_015140		Approved	KIAA0153	uc003bdp.3	Q14166	OTTHUMG00000150682	ENST00000216129.6:c.393G>A	22.37:g.43576901C>T							p.A131A	NM_015140.3	NP_055955.1	Q14166	TTL12_HUMAN			3	456	-		Ovarian(80;0.221)|Glioma(61;0.222)	131					Q20WK5|Q9UGU3	Silent	SNP	ENST00000216129.6	37	c.393G>A	CCDS14047.1																																																																																				0.667	TTLL12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319611.1	NM_015140		4	69	0	0	0	1	0	4	69					T	43576901	C	T	43576901	2	4	134	1	0	0	0	0	0	0	0	1	16722	755	27	1		1	TTLL12	22	43576901	Silent	SNP	C	TCGA-EJ-A8FN-01A-11D-A34U-08		43576901	7727665	45	6866											
VCX	26609	broad.mit.edu	37	chrX	7811726	7811726	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccggaggagccagtgagcgAggggacccagcacgaccccc	9	1	16	15	3	0	1	0	1	0	0	0	6	0	4	5	4	3	1	5	4	0	0			TCGA-EJ-A8FN-01A-11D-A34U-08	TCGA-EJ-A8FN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4526e2b2-d20d-4290-baf5-8d331fce6902	626f7f57-e6e8-4413-8a05-942c859a6d61	g.chrX:7811726A>G	ENST00000381059.3	+	3	509	c.290A>G	c.(289-291)gAg>gGg	p.E97G	VCX_ENST00000341408.4_Missense_Mutation_p.E97G	NM_013452.2	NP_038480.2	Q9H320	VCX1_HUMAN	variable charge, X-linked	97	Glu-rich.				chromatin organization (GO:0006325)|ribosome assembly (GO:0042255)|spermatogenesis (GO:0007283)	nucleolus (GO:0005730)|nucleus (GO:0005634)	chromatin binding (GO:0003682)			NS(1)|endometrium(4)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	10		Colorectal(8;0.0136)|Medulloblastoma(8;0.184)				CCAGTGAGCGAGGGGACCCAG	0.697																																						ENST00000381059.3																			0				NS(1)|endometrium(4)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	10						c.(289-291)gAg>gGg		variable charge, X-linked							42	54	50					X																	7811726		2119	4063	6182	SO:0001583	missense	26609				chromatin organization|ribosome assembly|spermatogenesis	nucleolus	chromatin binding	g.chrX:7811726A>G	AF167081	CCDS14128.1	Xp22.31	2008-02-05	2003-09-12		ENSG00000182583	ENSG00000182583			12667	protein-coding gene	gene with protein product		300229	"variable charge, X chromosome"			10607842, 10903929	Standard	NM_013452		Approved	VCX1, VCX10R, VCX-10r, VCX-B1	uc004crz.3	Q9H320	OTTHUMG00000028608	ENST00000381059.3:c.290A>G	X.37:g.7811726A>G	ENSP00000370447:p.Glu97Gly					VCX_ENST00000341408.4_Missense_Mutation_p.E97G	p.E97G	NM_013452.2	NP_038480.2	Q9H320	VCX1_HUMAN			3	509	+		Colorectal(8;0.0136)|Medulloblastoma(8;0.184)	97			Glu-rich.		A0JNS5|Q4V774|Q9P0H3	Missense_Mutation	SNP	ENST00000381059.3	37	c.290A>G	CCDS14128.1	.	.	.	.	.	.	.	.	.	.	-	7.238	0.600711	0.13939	.	.	ENSG00000182583	ENST00000381059;ENST00000341408	T;T	0.30448	1.53;1.53	.	.	.	.	.	.	.	.	T	0.23133	0.0559	L	0.48642	1.525	0.09310	N	0.999996	B	0.19817	0.039	B	0.09377	0.004	T	0.21586	-1.0241	7	0.44086	T	0.13	.	.	.	.	.	97	Q9H320	VCX1_HUMAN	G	97	ENSP00000370447:E97G;ENSP00000344144:E97G	ENSP00000344144:E97G	E	+	2	0	VCX	7771726	0.974000	0.33945	0.091000	0.20842	0.092000	0.18411	1.232000	0.32636	0.138000	0.18790	0.137000	0.15966	GAG		0.697	VCX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000071474.1	NM_013452		4	79	0	0	0	1	0	4	79					G	7811726	A	G	7811726	3	3	134	1	0	0	0	0	1	0	0	0	17139	304	11	4	296	4	VCX	23	7811726	Missense_Mutation	SNP	A	TCGA-EJ-A8FN-01A-11D-A34U-08		7811726	147458834	46	6867											
SMARCA1	6594	broad.mit.edu	37	chrX	128631828	128631829	+	Frame_Shift_Ins	INS	-	-	T																															atttattactcaccctgttcINStttgagtttggccaatagtt																										TCGA-EJ-A8FN-01A-11D-A34U-08	TCGA-EJ-A8FN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4526e2b2-d20d-4290-baf5-8d331fce6902	626f7f57-e6e8-4413-8a05-942c859a6d61	g.chrX:128631828_128631829insT	ENST00000371122.4	-	11	1626_1627	c.1497_1498insA	c.(1495-1500)aaagaafs	p.E500fs	SMARCA1_ENST00000371121.3_Frame_Shift_Ins_p.E500fs|SMARCA1_ENST00000371123.1_Frame_Shift_Ins_p.E500fs	NM_003069.3	NP_003060.2	P28370	SMCA1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1	500	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|brain development (GO:0007420)|chromatin remodeling (GO:0006338)|DNA strand renaturation (GO:0000733)|neuron differentiation (GO:0030182)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of neural precursor cell proliferation (GO:2000177)|transcription, DNA-templated (GO:0006351)	CERF complex (GO:0090537)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|NURF complex (GO:0016589)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(13)|ovary(5)|prostate(1)|skin(1)	45						TCACCCTGTTCTTTGAGTTTGG	0.312																																						ENST00000371122.4																			0				biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(13)|ovary(5)|prostate(1)|skin(1)	45						c.(1495-1500)aaaacafs		SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1																																				SO:0001589	frameshift_variant	6594				ATP-dependent chromatin remodeling|brain development|neuron differentiation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	NURF complex	ATP binding|DNA binding|helicase activity|nucleosome binding|protein binding	g.chrX:128631828_128631829insT	M88163	CCDS14612.1, CCDS76018.1, CCDS76019.1	Xq25	2008-02-05			ENSG00000102038	ENSG00000102038			11097	protein-coding gene	gene with protein product		300012		SNF2L1, SNF2L		1408766, 14609955	Standard	XM_005262461		Approved	SNF2LB, NURF140, ISWI, SWI	uc004eun.4	P28370	OTTHUMG00000022370	ENST00000371122.4:c.1498dupA	X.37:g.128631831_128631831dupT	ENSP00000360163:p.Glu500fs					SMARCA1_ENST00000371123.1_Frame_Shift_Ins_p.T500fs|SMARCA1_ENST00000371121.3_Frame_Shift_Ins_p.T500fs	p.T500fs	NM_003069.3	NP_003060.2	P28370	SMCA1_HUMAN			11	1626_1627	-			500			Helicase C-terminal.		Q5JV41|Q5JV42	Frame_Shift_Ins	INS	ENST00000371122.4	37	c.1497_1498insA	CCDS14612.1																																																																																				0.312	SMARCA1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058206.1	NM_003069		28	18						28	18	---	---	---	---	T	128631829	-	T	128631828	7	5	134	1	0	1	1	0	0	0	0	0	14768	922	32	0	1722	0	SMARCA1	23	128631828	Frame_Shift_Ins	INS	-	TCGA-EJ-A8FN-01A-11D-A34U-08	120820102	128631828	26638732	47	6868											
L1CAM	3897	broad.mit.edu	37	chrX	153137810	153137810	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	catccctcgtccagcggaacCtgtgggcggaaaaaggccca	10	5	12	14	3	0	0	0	0	0	0	3	2	2	2	4	4	2	0	4	4	3	0			TCGA-EJ-A8FN-01A-11D-A34U-08	TCGA-EJ-A8FN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4526e2b2-d20d-4290-baf5-8d331fce6902	626f7f57-e6e8-4413-8a05-942c859a6d61	g.chrX:153137810C>T	ENST00000370060.1	-	5	387		c.e5-1		L1CAM_ENST00000361981.3_Splice_Site|L1CAM_ENST00000538883.1_Splice_Site|L1CAM_ENST00000370057.3_Splice_Site|L1CAM_ENST00000370055.1_Splice_Site|L1CAM_ENST00000361699.4_Splice_Site|L1CAM_ENST00000543994.1_Splice_Site	NM_001278116.1	NP_001265045.1	P32004	L1CAM_HUMAN	L1 cell adhesion molecule						axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell death (GO:0008219)|cell surface receptor signaling pathway (GO:0007166)|cell-cell adhesion mediated by integrin (GO:0033631)|chemotaxis (GO:0006935)|heterophilic cell-cell adhesion (GO:0007157)|homophilic cell adhesion (GO:0007156)|homotypic cell-cell adhesion (GO:0034109)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|nervous system development (GO:0007399)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of cell-cell adhesion (GO:0022409)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	sialic acid binding (GO:0033691)			NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	81	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CCAGCGGAACCTGTGGGCGGA	0.647																																						ENST00000370060.1																			0				NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	81						c.e5-1		L1 cell adhesion molecule							59	51	54					X																	153137810		2203	4300	6503	SO:0001630	splice_region_variant	3897				axon guidance|blood coagulation|cell death|leukocyte migration	integral to membrane		g.chrX:153137810C>T	M74387	CCDS14733.1, CCDS14734.1, CCDS48192.1	Xq28	2014-09-17	2003-04-07		ENSG00000198910	ENSG00000198910		"CD molecules", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	6470	protein-coding gene	gene with protein product		308840	"antigen identified by monoclonal antibody R1"	HSAS1, SPG1, HSAS, MASA, MIC5, S10			Standard	NM_001278116		Approved	CD171	uc031tks.1	P32004	OTTHUMG00000024221	ENST00000370060.1:c.198-1G>A	X.37:g.153137810C>T						L1CAM_ENST00000370055.1_Splice_Site|L1CAM_ENST00000361699.4_Splice_Site|L1CAM_ENST00000361981.3_Splice_Site|L1CAM_ENST00000543994.1_Splice_Site|L1CAM_ENST00000538883.1_Splice_Site|L1CAM_ENST00000370057.3_Splice_Site		NM_001278116.1	NP_001265045.1	P32004	L1CAM_HUMAN			5	387	-	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)							A0AV65|A4ZYW4|B2RMU7|G3XAF4|Q8TA87	Splice_Site	SNP	ENST00000370060.1	37		CCDS14733.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.164597	0.78339	.	.	ENSG00000198910	ENST00000370060;ENST00000543994;ENST00000370057;ENST00000538883;ENST00000361981;ENST00000370055;ENST00000361699;ENST00000439496;ENST00000407935;ENST00000420165;ENST00000458029	.	.	.	4.87	4.87	0.63330	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.868	0.79080	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	L1CAM	152791004	1.000000	0.71417	1.000000	0.80357	0.821000	0.46438	6.985000	0.76193	2.259000	0.74868	0.529000	0.55759	.		0.647	L1CAM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000061094.2	NM_024003	Intron	7	9	0	0	0	1	0	7	9					T	153137810	C	T	153137810	5	4	134	1	0	0	0	0	0	0	1	0	8588	695	24	3	3676	3	L1CAM	23	153137810	Splice_Site	SNP	C	TCGA-EJ-A8FN-01A-11D-A34U-08	24505982	153137810	2132750	48	6869											
GJA8	2703	broad.mit.edu	37	chr1	147380281	147380281	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gctgcgagaacgtctgctacGacgaggcctttcccatctcc	7	9	10	15	4	2	1	0	0	2	1	4	4	3	1	3	1	4	2	3	1	2	2			TCGA-EJ-A8FO-01A-21D-A364-08	TCGA-EJ-A8FO-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97bc618f-218f-4eb3-a7f9-ad32524a0be0	109b048e-6856-44d8-a162-3d4c46493327	g.chr1:147380281G>A	ENST00000369235.1	+	1	199	c.199G>A	c.(199-201)Gac>Aac	p.D67N	GJA8_ENST00000240986.4_Missense_Mutation_p.D67N			P48165	CXA8_HUMAN	gap junction protein, alpha 8, 50kDa	67			D -> G (in CTRCT1). {ECO:0000269|PubMed:23508780}.		cell-cell signaling (GO:0007267)|lens development in camera-type eye (GO:0002088)|protein homooligomerization (GO:0051260)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	connexon complex (GO:0005922)|integral component of plasma membrane (GO:0005887)	channel activity (GO:0015267)	p.D67N(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)	37	all_hematologic(923;0.0276)					CGTCTGCTACGACGAGGCCTT	0.612																																					Melanoma(76;1255 1795 8195 52096)	ENST00000240986.4																			1	Substitution - Missense(1)	p.D67N(1)	lung(1)	NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)	37						c.(199-201)Gac>Aac		gap junction protein, alpha 8, 50kDa							145	112	123					1																	147380281		2203	4300	6503	SO:0001583	missense	2703				cell communication|visual perception	connexon complex|integral to plasma membrane	channel activity	g.chr1:147380281G>A	U34802	CCDS30834.1	1q21.1	2008-02-05	2007-01-16		ENSG00000121634	ENSG00000121634		"Ion channels / Gap junction proteins (connexins)"	4281	protein-coding gene	gene with protein product	"connexin 50"	600897	"gap junction protein, alpha 8, 50kD (connexin 50)", "gap junction protein, alpha 8, 50kDa (connexin 50)"	CAE1, CZP1, CAE		9497259, 7796604	Standard	NM_005267		Approved	CX50	uc001epu.2	P48165	OTTHUMG00000024085	ENST00000369235.1:c.199G>A	1.37:g.147380281G>A	ENSP00000358238:p.Asp67Asn					GJA8_ENST00000369235.1_Missense_Mutation_p.D67N	p.D67N	NM_005267.4	NP_005258.2	P48165	CXA8_HUMAN			2	252	+	all_hematologic(923;0.0276)		67					A7L5M5|Q5VVN9|Q9NP25	Missense_Mutation	SNP	ENST00000369235.1	37	c.199G>A	CCDS30834.1	.	.	.	.	.	.	.	.	.	.	g	31	5.087785	0.94100	.	.	ENSG00000121634	ENST00000240986;ENST00000369235	D;D	0.99409	-5.85;-5.85	5.2	5.2	0.72013	Connexin, conserved site (1);Connexin, N-terminal (2);	0.000000	0.85682	D	0.000000	D	0.99426	0.9797	M	0.66506	2.035	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99282	1.0896	10	0.87932	D	0	.	18.721	0.91692	0.0:0.0:1.0:0.0	.	67	P48165	CXA8_HUMAN	N	67	ENSP00000240986:D67N;ENSP00000358238:D67N	ENSP00000240986:D67N	D	+	1	0	GJA8	145846905	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.941000	0.87700	2.409000	0.81822	0.491000	0.48974	GAC		0.612	GJA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060647.1	NM_005267		13	42	0	0	0	1	0	13	42					A	147380281	G	A	147380281	3	1	135	1	0	0	0	0	1	0	0	0	6405	1058	37	2	201	2	GJA8	1	147380281	Missense_Mutation	SNP	G	TCGA-EJ-A8FO-01A-21D-A364-08		147380281	101870340	1	6870											
KCNN3	3782	broad.mit.edu	37	chr1	154841694	154841694	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gggaaggtggtgctgctggcGgtggtgccggcatgctggtg	3	9	22	7	2	0	0	0	0	0	0	0	1	0	1	1	8	4	4	1	8	1	0	rs558590709		TCGA-EJ-A8FO-01A-21D-A364-08	TCGA-EJ-A8FO-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97bc618f-218f-4eb3-a7f9-ad32524a0be0	109b048e-6856-44d8-a162-3d4c46493327	g.chr1:154841694G>A	ENST00000271915.4	-	1	1062	c.747C>T	c.(745-747)acC>acT	p.T249T	KCNN3_ENST00000358505.2_5'Flank	NM_001204087.1|NM_002249.5	NP_001191016.1|NP_002240.3	Q9UGI6	KCNN3_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3	254					potassium ion transmembrane transport (GO:0071805)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	calmodulin binding (GO:0005516)|small conductance calcium-activated potassium channel activity (GO:0016286)			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(11)|prostate(4)|skin(1)	28	all_lung(78;2.29e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.108)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00819)		Miconazole(DB01110)|Procaine(DB00721)	TGCTGCTGGCGGTGGTGCCGG	0.582																																						ENST00000271915.3																			0				cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(11)|prostate(4)|skin(1)	28						c.(745-747)acC>acT		potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3							105	101	102					1																	154841694		2203	4300	6503	SO:0001819	synonymous_variant	3782					integral to membrane	calmodulin binding	g.chr1:154841694G>A	AF031815	CCDS1072.1, CCDS30880.1, CCDS72928.1	1q21.3	2012-07-05			ENSG00000143603	ENSG00000143603		"Potassium channels", "Voltage-gated ion channels / Potassium channels, calcium-activated"	6292	protein-coding gene	gene with protein product		602983				9491810, 16382103	Standard	NM_002249		Approved	KCa2.3, hSK3, SKCA3	uc021pah.1	Q9UGI6	OTTHUMG00000037260	ENST00000271915.4:c.747C>T	1.37:g.154841694G>A							p.T249T	NM_002249.5	NP_002240.3	Q9UGI6	KCNN3_HUMAN	BRCA - Breast invasive adenocarcinoma(34;0.00819)		1	1062	-	all_lung(78;2.29e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.108)|all_neural(408;0.245)		254					B1ANX0|O43517|Q86VF9|Q8WXG7	Silent	SNP	ENST00000271915.4	37	c.747C>T	CCDS30880.1																																																																																				0.582	KCNN3-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090688.3	NM_002249		5	54	0	0	0	1	0	5	54					A	154841694	G	A	154841694	2	1	135	1	0	0	0	0	0	0	0	1	8080	1103	39	2		2	KCNN3	1	154841694	Silent	SNP	G	TCGA-EJ-A8FO-01A-21D-A364-08	7461413	154841694	94408927	2	6871											
SOAT1	6646	broad.mit.edu	37	chr1	179310184	179310184	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctggtgcttgagttcagcctCctgtcttatgcttttggcaa	5	16	10	10	0	2	1	1	1	1	0	3	1	3	1	2	2	3	4	2	2	2	5			TCGA-EJ-A8FO-01A-21D-A364-08	TCGA-EJ-A8FO-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97bc618f-218f-4eb3-a7f9-ad32524a0be0	109b048e-6856-44d8-a162-3d4c46493327	g.chr1:179310184C>A	ENST00000367619.3	+	7	662	c.519C>A	c.(517-519)ctC>ctA	p.L173L	SOAT1_ENST00000535686.1_De_novo_Start_OutOfFrame|SOAT1_ENST00000539888.1_Silent_p.L108L|SOAT1_ENST00000540564.1_Silent_p.L115L	NM_003101.5	NP_003092.4	P35610	SOAT1_HUMAN	sterol O-acyltransferase 1	173					cholesterol efflux (GO:0033344)|cholesterol esterification (GO:0034435)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol storage (GO:0010878)|macrophage derived foam cell differentiation (GO:0010742)|positive regulation of amyloid precursor protein biosynthetic process (GO:0042986)|very-low-density lipoprotein particle assembly (GO:0034379)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	cholesterol binding (GO:0015485)|cholesterol O-acyltransferase activity (GO:0034736)|fatty-acyl-CoA binding (GO:0000062)|sterol O-acyltransferase activity (GO:0004772)			central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(10)|prostate(1)|skin(3)|stomach(1)	20					Ezetimibe(DB00973)|Hesperetin(DB01094)	AGTTCAGCCTCCTGTCTTATG	0.393																																						ENST00000535686.1																			0				central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(10)|prostate(1)|skin(3)|stomach(1)	20								sterol O-acyltransferase 1	Ezetimibe(DB00973)|Hesperetin(DB01094)						124	116	118					1																	179310184		2203	4300	6503	SO:0001819	synonymous_variant	6646				cholesterol efflux|cholesterol esterification|cholesterol homeostasis|cholesterol metabolic process|cholesterol storage|macrophage derived foam cell differentiation|positive regulation of amyloid precursor protein biosynthetic process|very-low-density lipoprotein particle assembly	endoplasmic reticulum membrane|integral to membrane|microsome	cholesterol binding|cholesterol O-acyltransferase activity|fatty-acyl-CoA binding	g.chr1:179310184C>A	L21934	CCDS1330.1, CCDS58047.1, CCDS58048.1	1q25	2008-08-26	2008-08-26		ENSG00000057252	ENSG00000057252	2.3.1.26		11177	protein-coding gene	gene with protein product	"acyl-Coenzyme A: cholesterol acyltransferase"	102642	"sterol O-acyltransferase (acyl-Coenzyme A: cholesterol acyltransferase) 1"	SOAT, STAT		8407899	Standard	NM_003101		Approved	ACAT	uc001gml.3	P35610	OTTHUMG00000035253	ENST00000367619.3:c.519C>A	1.37:g.179310184C>A						SOAT1_ENST00000540564.1_Silent_p.L115L|SOAT1_ENST00000367619.3_Silent_p.L173L|SOAT1_ENST00000539888.1_Silent_p.L108L				P35610	SOAT1_HUMAN			0	482	+								A6NC40|A8K3P4|A9Z1V7|B4DU95|Q5T0X4|Q8N1E4	Translation_Start_Site	SNP	ENST00000367619.3	37		CCDS1330.1																																																																																				0.393	SOAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085286.2	NM_003101		9	40	1	0	0.00448238	1	0.00488987	9	40					A	179310184	C	A	179310184	2	1	135	1	0	0	0	0	0	0	0	1	14910	842	30	5		5	SOAT1	1	179310184	Silent	SNP	C	TCGA-EJ-A8FO-01A-21D-A364-08	24468490	179310184	69940437	3	6872											
ATP5G3	518	broad.mit.edu	37	chr2	176043113	176043113	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagcatatgagaacagctgcTgcttcagcgaagggtttcta	11	11	11	8	1	2	1	1	1	1	1	2	3	2	1	0	1	6	5	0	1	5	5			TCGA-EJ-A8FO-01A-21D-A364-08	TCGA-EJ-A8FO-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97bc618f-218f-4eb3-a7f9-ad32524a0be0	109b048e-6856-44d8-a162-3d4c46493327	g.chr2:176043113T>C	ENST00000284727.4	-	5	3356	c.332A>G	c.(331-333)cAg>cGg	p.Q111R	Y_RNA_ENST00000363251.1_RNA|ATP5G3_ENST00000409194.1_Missense_Mutation_p.Q111R|ATP5G3_ENST00000392541.3_Missense_Mutation_p.Q111R	NM_001002258.4|NM_001689.4	NP_001002258.1|NP_001680.1	P48201	AT5G3_HUMAN	ATP synthase, H+ transporting, mitochondrial Fo complex, subunit C3 (subunit 9)	111					ATP hydrolysis coupled proton transport (GO:0015991)|ATP synthesis coupled proton transport (GO:0015986)	integral component of membrane (GO:0016021)|mitochondrial proton-transporting ATP synthase complex (GO:0005753)|proton-transporting ATP synthase complex, coupling factor F(o) (GO:0045263)	hydrogen ion transmembrane transporter activity (GO:0015078)|lipid binding (GO:0008289)|transporter activity (GO:0005215)			large_intestine(1)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	5			OV - Ovarian serous cystadenocarcinoma(117;0.147)			GAACAGCTGCTGCTTCAGCGA	0.363																																					GBM(30;387 605 18606 28805 47989)	ENST00000284727.4																			0				large_intestine(1)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	5						c.(331-333)cAg>cGg		ATP synthase, H+ transporting, mitochondrial Fo complex, subunit C3 (subunit 9)							115	109	111					2																	176043113		2203	4300	6503	SO:0001583	missense	518				ATP hydrolysis coupled proton transport|ATP synthesis coupled proton transport	integral to membrane|mitochondrial proton-transporting ATP synthase complex|proton-transporting ATP synthase complex, coupling factor F(o)	hydrogen ion transmembrane transporter activity|lipid binding|protein binding	g.chr2:176043113T>C	BC106881	CCDS2263.1	2q31.1	2012-10-12	2010-06-11		ENSG00000154518	ENSG00000154518		"Mitochondrial respiratory chain complex / Complex V", "ATPases / F-type"	843	protein-coding gene	gene with protein product		602736	"ATP synthase, H+ transporting, mitochondrial F0 complex, subunit c (subunit 9) isoform 3", "ATP synthase, H+ transporting, mitochondrial F0 complex, subunit C3 (subunit 9)"			7698763	Standard	NM_001002258		Approved		uc002ujz.4	P48201	OTTHUMG00000132425	ENST00000284727.4:c.332A>G	2.37:g.176043113T>C	ENSP00000284727:p.Gln111Arg					ATP5G3_ENST00000392541.3_Missense_Mutation_p.Q111R|ATP5G3_ENST00000409194.1_Missense_Mutation_p.Q111R	p.Q111R	NM_001002258.4|NM_001689.4	NP_001002258.1|NP_001680.1	P48201	AT5G3_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.147)		5	3356	-			111					B2R4Z0|D3DPF0|Q4ZFX7	Missense_Mutation	SNP	ENST00000284727.4	37	c.332A>G	CCDS2263.1	.	.	.	.	.	.	.	.	.	.	T	25.1	4.602382	0.87157	.	.	ENSG00000154518	ENST00000284727;ENST00000409194;ENST00000392541	T;T;T	0.41758	0.99;0.99;0.99	5.93	5.93	0.95920	ATPase, F0/V0 complex, subunit C (3);	0.000000	0.85682	D	0.000000	T	0.60457	0.2270	L	0.54863	1.705	0.80722	D	1	D	0.76494	0.999	D	0.71656	0.974	T	0.61700	-0.7009	10	0.62326	D	0.03	-0.9338	16.3943	0.83563	0.0:0.0:0.0:1.0	.	111	P48201	AT5G3_HUMAN	R	111	ENSP00000284727:Q111R;ENSP00000387317:Q111R;ENSP00000376324:Q111R	ENSP00000284727:Q111R	Q	-	2	0	ATP5G3	175751359	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	7.992000	0.88273	2.281000	0.76405	0.533000	0.62120	CAG		0.363	ATP5G3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255563.1	NM_001689		7	56	0	0	0	1	0	7	56					C	176043113	T	C	176043113	3	2	135	1	0	0	0	0	1	0	0	0	1155	1580	55	4	100	4	ATP5G3	2	176043113	Missense_Mutation	SNP	T	TCGA-EJ-A8FO-01A-21D-A364-08		176043113	67156260	4	6873											
CAND2	23066	broad.mit.edu	37	chr3	12845101	12845101	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cggctcctggaggacaagaaCggtgaggtgcagaacctggc	10	5	16	10	2	0	3	0	1	0	2	1	5	1	5	2	6	3	2	2	6	3	0			TCGA-EJ-A8FO-01A-21D-A364-08	TCGA-EJ-A8FO-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97bc618f-218f-4eb3-a7f9-ad32524a0be0	109b048e-6856-44d8-a162-3d4c46493327	g.chr3:12845101C>T	ENST00000456430.2	+	2	224	c.183C>T	c.(181-183)aaC>aaT	p.N61N	CAND2_ENST00000295989.5_Silent_p.N61N	NM_001162499.1	NP_001155971.1	O75155	CAND2_HUMAN	cullin-associated and neddylation-dissociated 2 (putative)	61					positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	intracellular (GO:0005622)|nucleus (GO:0005634)				breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(8)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						AGGACAAGAACGGTGAGGTGC	0.622																																					GBM(43;676 868 1633 6395 37496)	ENST00000456430.2																			0				breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(8)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						c.(181-183)aaC>aaT		cullin-associated and neddylation-dissociated 2 (putative)							54	59	58					3																	12845101		2203	4300	6503	SO:0001819	synonymous_variant	23066				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	g.chr3:12845101C>T		CCDS43053.1, CCDS54554.1	3p25.2	2008-02-05			ENSG00000144712	ENSG00000144712			30689	protein-coding gene	gene with protein product	"TBP interacting protein"	610403				9734811, 10441524	Standard	NM_012298		Approved	TIP120B, KIAA0667, Tp120b	uc003bxk.2	O75155	OTTHUMG00000155397	ENST00000456430.2:c.183C>T	3.37:g.12845101C>T						CAND2_ENST00000295989.5_Silent_p.N61N	p.N61N	NM_001162499.1	NP_001155971.1	O75155	CAND2_HUMAN			2	224	+			61					B9EGM9|E9KL24	Silent	SNP	ENST00000456430.2	37	c.183C>T	CCDS54554.1																																																																																				0.622	CAND2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339856.4	XM_371617		4	36	0	0	0	1	0	4	36					T	12845101	C	T	12845101	2	4	135	1	0	0	0	0	0	0	0	1	2616	535	19	1		1	CAND2	3	12845101	Silent	SNP	C	TCGA-EJ-A8FO-01A-21D-A364-08		12845101	185177329	5	6874											
LPA	4018	broad.mit.edu	37	chr6	160998309	160998309	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggtagcaatcctggaccacaGggcttttctcaggtggtgct	7	11	13	10	0	1	0	1	0	1	0	3	1	2	1	2	5	2	4	2	5	2	3			TCGA-EJ-A8FO-01A-21D-A364-08	TCGA-EJ-A8FO-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97bc618f-218f-4eb3-a7f9-ad32524a0be0	109b048e-6856-44d8-a162-3d4c46493327	g.chr6:160998309G>A	ENST00000316300.5	-	28	4534	c.4490C>T	c.(4489-4491)cCt>cTt	p.P1497L	LPA_ENST00000447678.1_Missense_Mutation_p.P1497L			P08519	APOA_HUMAN	lipoprotein, Lp(a)	4005	Kringle 13. {ECO:0000255|PROSITE- ProRule:PRU00121}.				blood circulation (GO:0008015)|lipid metabolic process (GO:0006629)|lipid transport (GO:0006869)|lipoprotein metabolic process (GO:0042157)|negative regulation of endopeptidase activity (GO:0010951)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|plasma lipoprotein particle (GO:0034358)	apolipoprotein binding (GO:0034185)|endopeptidase inhibitor activity (GO:0004866)|fibronectin binding (GO:0001968)|heparin binding (GO:0008201)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	CTGGACCACAGGGCTTTTCTC	0.428																																						ENST00000447678.1																			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107						c.(4489-4491)cCt>cTt		lipoprotein, Lp(a)	Aminocaproic Acid(DB00513)						99	105	103					6																	160998309		2191	4297	6488	SO:0001583	missense	4018				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity	g.chr6:160998309G>A	X06290	CCDS43523.1	6q25-q26	2012-10-02			ENSG00000198670	ENSG00000198670			6667	protein-coding gene	gene with protein product		152200		LP		3670400	Standard	NM_005577		Approved		uc003qtl.3	P08519	OTTHUMG00000015956	ENST00000316300.5:c.4490C>T	6.37:g.160998309G>A	ENSP00000321334:p.Pro1497Leu					LPA_ENST00000316300.5_Missense_Mutation_p.P1497L	p.P1497L	NM_005577.2	NP_005568.2	P08519	APOA_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	29	4610	-		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)	4005			Kringle 13.		Q5VTD7|Q9UD88	Missense_Mutation	SNP	ENST00000316300.5	37	c.4490C>T	CCDS43523.1	.	.	.	.	.	.	.	.	.	.	g	10.36	1.327546	0.24080	.	.	ENSG00000198670	ENST00000316300;ENST00000447678	T;T	0.61392	0.11;0.11	2.39	1.33	0.21861	Kringle (1);Kringle-like fold (1);	.	.	.	.	T	0.61135	0.2323	M	0.82923	2.615	0.27265	N	0.958537	P	0.51147	0.942	D	0.66497	0.944	T	0.46775	-0.9167	9	0.52906	T	0.07	.	5.5302	0.16980	0.0:0.0:0.6729:0.3271	.	4005	P08519	APOA_HUMAN	L	1497	ENSP00000321334:P1497L;ENSP00000395608:P1497L	ENSP00000321334:P1497L	P	-	2	0	LPA	160918299	0.943000	0.32029	0.960000	0.40013	0.259000	0.26198	2.511000	0.45476	1.318000	0.45170	0.195000	0.17529	CCT		0.428	LPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042957.1	NM_005577		17	91	0	0	0	1	0	17	91					A	160998309	G	A	160998309	3	1	135	1	0	0	0	0	1	0	0	0	8903	1000	35	3	1680	3	LPA	6	160998309	Missense_Mutation	SNP	G	TCGA-EJ-A8FO-01A-21D-A364-08		160998309	10116758	6	6875											
ABCA13	154664	broad.mit.edu	37	chr7	48390281	48390281	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttaaccatgcaggcgctggaCgcttccgtttcttgggcagc	6	11	12	12	3	1	0	0	0	1	0	2	1	2	1	2	3	3	5	2	3	1	4	rs370018894		TCGA-EJ-A8FO-01A-21D-A364-08	TCGA-EJ-A8FO-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97bc618f-218f-4eb3-a7f9-ad32524a0be0	109b048e-6856-44d8-a162-3d4c46493327	g.chr7:48390281C>T	ENST00000435803.1	+	30	10270	c.10246C>T	c.(10246-10248)Cgc>Tgc	p.R3416C		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	3416					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						AGGCGCTGGACGCTTCCGTTT	0.527																																						ENST00000435803.1																			0				breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						c.(10246-10248)Cgc>Tgc		ATP-binding cassette, sub-family A (ABC1), member 13		C	CYS/ARG	0,4118		0,0,2059	161	160	160		10246	3.8	0	7		160	1,8425		0,1,4212	no	missense	ABCA13	NM_152701.3	180	0,1,6271	TT,TC,CC		0.0119,0.0,0.0080	probably-damaging	3416/5059	48390281	1,12543	2059	4213	6272	SO:0001583	missense	154664				transport	integral to membrane	ATP binding|ATPase activity	g.chr7:48390281C>T	AY204751	CCDS47584.1	7p12.3	2012-03-14			ENSG00000179869	ENSG00000179869		"ATP binding cassette transporters / subfamily A"	14638	protein-coding gene	gene with protein product		607807				12697998	Standard	NM_152701		Approved	FLJ33876, FLJ33951	uc003toq.2	Q86UQ4	OTTHUMG00000155840	ENST00000435803.1:c.10246C>T	7.37:g.48390281C>T	ENSP00000411096:p.Arg3416Cys						p.R3416C	NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN			30	10270	+			3416					K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Missense_Mutation	SNP	ENST00000435803.1	37	c.10246C>T	CCDS47584.1	.	.	.	.	.	.	.	.	.	.	C	14.89	2.670882	0.47781	0.0	1.19E-4	ENSG00000179869	ENST00000435803	D	0.85339	-1.97	4.66	3.77	0.43336	.	1.013390	0.07924	N	0.976401	D	0.84224	0.5425	L	0.44542	1.39	0.24401	N	0.994707	D;D	0.61697	0.965;0.99	P;P	0.47075	0.481;0.536	T	0.72327	-0.4327	10	0.72032	D	0.01	.	11.7247	0.51702	0.1757:0.8243:0.0:0.0	.	1118;3416	Q86UQ4-3;Q86UQ4	.;ABCAD_HUMAN	C	3416	ENSP00000411096:R3416C	ENSP00000411096:R3416C	R	+	1	0	ABCA13	48360827	0.000000	0.05858	0.001000	0.08648	0.006000	0.05464	0.578000	0.23773	0.910000	0.36722	0.655000	0.94253	CGC		0.527	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341964.2	NM_152701		3	54	0	0	0	1	0	3	54					T	48390281	C	T	48390281	3	4	135	1	0	0	0	0	1	0	0	0	31	536	19	1	10193	1	ABCA13	7	48390281	Missense_Mutation	SNP	C	TCGA-EJ-A8FO-01A-21D-A364-08		48390281	110748382	7	6876											
MORN4	118812	broad.mit.edu	37	chr10	99377062	99377062	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atctgcaaacatcagttgacCaaaaccatgcctgcggcctg	12	8	8	13	1	2	1	1	1	1	0	2	1	2	1	4	1	5	2	4	1	3	1			TCGA-EJ-A8FO-01A-21D-A364-08	TCGA-EJ-A8FO-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97bc618f-218f-4eb3-a7f9-ad32524a0be0	109b048e-6856-44d8-a162-3d4c46493327	g.chr10:99377062C>T	ENST00000307450.6	-	3	248	c.85G>A	c.(85-87)Ggt>Agt	p.G29S	MORN4_ENST00000478953.1_Missense_Mutation_p.G29S|PI4K2A_ENST00000555577.1_Intron|MORN4_ENST00000335628.3_Missense_Mutation_p.G87S|PI4K2A_ENST00000370649.3_Intron	NM_001098831.1|NM_178832.3	NP_001092301.1|NP_849154.1	Q8NDC4	MORN4_HUMAN	MORN repeat containing 4	29										large_intestine(1)|lung(1)|stomach(2)	4						ATCAGTTGACCAAAACCATGC	0.498																																						ENST00000335628.3																			0				large_intestine(1)|lung(1)|stomach(2)	4						c.(259-261)Ggt>Agt		MORN repeat containing 4							134	126	129					10																	99377062		2203	4300	6503	SO:0001583	missense	118812							g.chr10:99377062C>T	AJ431726	CCDS7468.1	10q24.2	2008-06-23	2008-06-23	2008-06-23	ENSG00000171160	ENSG00000171160			24001	protein-coding gene	gene with protein product	"44050 protein"		"chromosome 10 open reading frame 83"	C10orf83		12477932	Standard	NM_178832		Approved	bA548K23.4, FLJ25925	uc001koe.3	Q8NDC4	OTTHUMG00000018861	ENST00000307450.6:c.85G>A	10.37:g.99377062C>T	ENSP00000307636:p.Gly29Ser					PI4K2A_ENST00000370649.3_Intron|MORN4_ENST00000307450.6_Missense_Mutation_p.G29S|MORN4_ENST00000478953.1_Missense_Mutation_p.G29S|PI4K2A_ENST00000555577.1_Intron	p.G87S			Q8NDC4	MORN4_HUMAN			2	258	-			29					Q86Y54	Missense_Mutation	SNP	ENST00000307450.6	37	c.259G>A	CCDS7468.1	.	.	.	.	.	.	.	.	.	.	C	36	5.740969	0.96873	.	.	ENSG00000171160	ENST00000307450;ENST00000478953;ENST00000515674;ENST00000335628	D;D;T	0.95885	-3.84;-3.84;0.36	6.07	6.07	0.98685	.	0.049002	0.85682	D	0.000000	D	0.98839	0.9608	H	0.98178	4.165	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.98945	1.0792	10	0.87932	D	0	-23.5316	20.6439	0.99570	0.0:1.0:0.0:0.0	.	87;29	Q8NDC4-2;Q8NDC4	.;MORN4_HUMAN	S	29;29;29;87	ENSP00000307636:G29S;ENSP00000441070:G29S;ENSP00000335498:G87S	ENSP00000307636:G29S	G	-	1	0	MORN4	99367052	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.781000	0.85668	2.884000	0.98904	0.655000	0.94253	GGT		0.498	MORN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049730.1	NM_178832		12	75	0	0	0	1	0	12	75					T	99377062	C	T	99377062	3	4	135	1	0	0	0	0	1	0	0	0	9710	594	21	3	367	3	MORN4	10	99377062	Missense_Mutation	SNP	C	TCGA-EJ-A8FO-01A-21D-A364-08		99377062	36157685	8	6877											
GSTO1	9446	broad.mit.edu	37	chr10	106019439	106019439	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aacagtcagggtcagctgatCtacgagtctgccatcacctg	10	9	10	12	1	5	1	3	1	2	0	5	2	5	1	2	1	4	1	2	1	2	1			TCGA-EJ-A8FO-01A-21D-A364-08	TCGA-EJ-A8FO-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97bc618f-218f-4eb3-a7f9-ad32524a0be0	109b048e-6856-44d8-a162-3d4c46493327	g.chr10:106019439C>G	ENST00000369713.5	+	3	443	c.249C>G	c.(247-249)atC>atG	p.I83M	GSTO1_ENST00000369710.4_Missense_Mutation_p.I83M|GSTO1_ENST00000493946.1_3'UTR|GSTO1_ENST00000539281.1_Missense_Mutation_p.I55M	NM_004832.2	NP_004823.1	P78417	GSTO1_HUMAN	glutathione S-transferase omega 1	83	GST N-terminal.				cellular response to arsenic-containing substance (GO:0071243)|glutathione derivative biosynthetic process (GO:1901687)|L-ascorbic acid metabolic process (GO:0019852)|negative regulation of ryanodine-sensitive calcium-release channel activity (GO:0060315)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|positive regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014810)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|small molecule metabolic process (GO:0044281)|xenobiotic catabolic process (GO:0042178)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	glutathione dehydrogenase (ascorbate) activity (GO:0045174)|glutathione transferase activity (GO:0004364)|methylarsonate reductase activity (GO:0050610)|oxidoreductase activity (GO:0016491)			large_intestine(1)|lung(1)|stomach(1)	3		Colorectal(252;0.102)|Breast(234;0.122)		Epithelial(162;8.07e-10)|all cancers(201;2.72e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0147)	Glutathione(DB00143)|Vitamin E(DB00163)	GTCAGCTGATCTACGAGTCTG	0.463																																						ENST00000539281.1																			0				large_intestine(1)|lung(1)|stomach(1)	3						c.(163-165)atC>atG		glutathione S-transferase omega 1	Glutathione(DB00143)						117	116	116					10																	106019439		2203	4300	6503	SO:0001583	missense	9446				xenobiotic metabolic process	cytosol	glutathione transferase activity|monodehydroascorbate reductase (NADH) activity	g.chr10:106019439C>G	AF212303	CCDS7555.1, CCDS53572.1, CCDS53573.1	10q25.1	2012-06-21			ENSG00000148834	ENSG00000148834	2.5.1.18, 1.8.5.1, 1.20.4.2	"Glutathione S-transferases / Soluble"	13312	protein-coding gene	gene with protein product		605482				10783391, 12618591	Standard	NM_004832		Approved	GSTTLp28, P28	uc001kya.3	P78417	OTTHUMG00000019001	ENST00000369713.5:c.249C>G	10.37:g.106019439C>G	ENSP00000358727:p.Ile83Met					GSTO1_ENST00000493946.1_3'UTR|GSTO1_ENST00000369710.4_Missense_Mutation_p.I83M|GSTO1_ENST00000369713.5_Missense_Mutation_p.I83M	p.I55M	NM_001191003.1	NP_001177932.1	P78417	GSTO1_HUMAN		Epithelial(162;8.07e-10)|all cancers(201;2.72e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0147)	3	521	+		Colorectal(252;0.102)|Breast(234;0.122)	83			GST N-terminal.		D3DRA3|F5H7H0|Q5TA03|Q7Z3T2	Missense_Mutation	SNP	ENST00000369713.5	37	c.165C>G	CCDS7555.1	.	.	.	.	.	.	.	.	.	.	C	15.23	2.772896	0.49680	.	.	ENSG00000148834	ENST00000539281;ENST00000369710;ENST00000369713;ENST00000445155;ENST00000432659	T;T;T;T;T	0.31510	1.49;1.49;1.49;1.49;1.49	5.66	2.78	0.32641	Glutathione S-transferase, N-terminal (2);Thioredoxin-like fold (2);	0.187820	0.56097	D	0.000034	T	0.52869	0.1761	M	0.83312	2.635	0.54753	D	0.999982	D	0.76494	0.999	D	0.80764	0.994	T	0.51834	-0.8655	10	0.87932	D	0	-8.9637	7.2905	0.26364	0.0:0.6746:0.123:0.2025	.	83	P78417	GSTO1_HUMAN	M	55;83;83;55;55	ENSP00000441488:I55M;ENSP00000358724:I83M;ENSP00000358727:I83M;ENSP00000406708:I55M;ENSP00000405325:I55M	ENSP00000358724:I83M	I	+	3	3	GSTO1	106009429	0.958000	0.32768	0.008000	0.14137	0.736000	0.42039	0.876000	0.28092	0.408000	0.25621	-0.136000	0.14681	ATC		0.463	GSTO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050193.1	NM_004832		14	44	0	0	0	1	0	14	44					G	106019439	C	G	106019439	3	3	135	1	0	0	0	0	1	0	0	0	6842	903	32	5	259	5	GSTO1	10	106019439	Missense_Mutation	SNP	C	TCGA-EJ-A8FO-01A-21D-A364-08	6642377	106019439	29515308	9	6878											
BCCIP	56647	broad.mit.edu	37	chr10	127512145	127512145	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acatggcgtccaggtctaagCggcgtgccgtggaaagtggg	8	7	17	9	4	1	0	0	0	1	0	2	1	2	1	2	5	2	0	2	5	2	1	rs138579130		TCGA-EJ-A8FO-01A-21D-A364-08	TCGA-EJ-A8FO-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97bc618f-218f-4eb3-a7f9-ad32524a0be0	109b048e-6856-44d8-a162-3d4c46493327	g.chr10:127512145C>G	ENST00000278100.6	+	1	31	c.19C>G	c.(19-21)Cgg>Ggg	p.R7G	UROS_ENST00000368778.3_5'Flank|UROS_ENST00000368774.1_5'Flank|UROS_ENST00000368797.4_5'Flank|BCCIP_ENST00000429863.2_Missense_Mutation_p.R7G|BCCIP_ENST00000368759.5_Missense_Mutation_p.R7G|BCCIP_ENST00000299130.3_Missense_Mutation_p.R7G	NM_078468.2	NP_510868.1	Q9P287	BCCIP_HUMAN	BRCA2 and CDKN1A interacting protein	7					cell cycle (GO:0007049)|DNA repair (GO:0006281)|neuroendocrine cell differentiation (GO:0061101)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)	nuclear cyclin-dependent protein kinase holoenzyme complex (GO:0019908)|nucleus (GO:0005634)	kinase regulator activity (GO:0019207)|poly(A) RNA binding (GO:0044822)			breast(1)|kidney(2)|large_intestine(3)|lung(1)|ovary(1)	8		all_lung(145;0.00751)|Lung NSC(174;0.0115)|Colorectal(57;0.0846)|all_neural(114;0.0936)				CAGGTCTAAGCGGCGTGCCGT	0.612													C|||	1	0.000199681	8e-04	0	5008	,	,		17417	0		0	False		,,,				2504	0					ENST00000299130.3																			0				breast(1)|kidney(2)|large_intestine(3)|lung(1)|ovary(1)	8						c.(19-21)Cgg>Ggg		BRCA2 and CDKN1A interacting protein		C	GLY/ARG,GLY/ARG,GLY/ARG	0,4406		0,0,2203	108	114	112		19,19,19	-3	0	10	dbSNP_134	112	3,8597	3.0+/-9.4	0,3,4297	yes	missense,missense,missense	BCCIP	NM_016567.3,NM_078468.2,NM_078469.2	125,125,125	0,3,6500	GG,GC,CC		0.0349,0.0,0.0231	possibly-damaging,possibly-damaging,possibly-damaging	7/323,7/315,7/293	127512145	3,13003	2203	4300	6503	SO:0001583	missense	56647				cell cycle|DNA repair|neuroendocrine cell differentiation|regulation of cyclin-dependent protein kinase activity	nuclear cyclin-dependent protein kinase holoenzyme complex	kinase regulator activity|protein binding	g.chr10:127512145C>G	AB040451	CCDS7649.1, CCDS7650.1, CCDS7651.1	10q26.2	2008-05-14	2001-11-29		ENSG00000107949	ENSG00000107949			978	protein-coding gene	gene with protein product		611883	"BRCA2 and CDKN1A-interacting protein"			11313963, 10878006	Standard	NM_016567		Approved	BCCIPalpha, TOK-1	uc001ljd.4	Q9P287	OTTHUMG00000019237	ENST00000278100.6:c.19C>G	10.37:g.127512145C>G	ENSP00000278100:p.Arg7Gly					BCCIP_ENST00000429863.2_Missense_Mutation_p.R7G|BCCIP_ENST00000368759.5_Missense_Mutation_p.R7G|BCCIP_ENST00000278100.6_Missense_Mutation_p.R7G	p.R7G	NM_078469.2	NP_510869.1	Q9P287	BCCIP_HUMAN			1	31	+		all_lung(145;0.00751)|Lung NSC(174;0.0115)|Colorectal(57;0.0846)|all_neural(114;0.0936)	7					B3KP45|Q8ND15|Q96GC4|Q9P288	Missense_Mutation	SNP	ENST00000278100.6	37	c.19C>G	CCDS7651.1	.	.	.	.	.	.	.	.	.	.	C	17.90	3.501840	0.64298	0.0	3.49E-4	ENSG00000107949	ENST00000278100;ENST00000299130;ENST00000368759;ENST00000429863;ENST00000392718	T;T;T;T	0.53423	0.77;0.67;0.62;0.69	5.05	-2.98	0.05513	.	0.132002	0.47852	D	0.000205	T	0.27205	0.0667	N	0.08118	0	0.09310	N	1	P;P;P;P;P	0.46064	0.649;0.649;0.872;0.761;0.499	B;B;P;B;B	0.49085	0.253;0.199;0.6;0.363;0.067	T	0.29671	-1.0004	10	0.87932	D	0	-2.1449	4.3624	0.11208	0.5875:0.2202:0.1054:0.0868	.	7;7;7;7;7	B4E318;B4DUS0;Q9P287-2;Q9P287-4;Q9P287	.;.;.;.;BCCIP_HUMAN	G	7	ENSP00000278100:R7G;ENSP00000299130:R7G;ENSP00000357748:R7G;ENSP00000394758:R7G	ENSP00000278100:R7G	R	+	1	2	BCCIP	127502135	0.995000	0.38212	0.000000	0.03702	0.009000	0.06853	0.168000	0.16622	-0.436000	0.07254	0.561000	0.74099	CGG		0.612	BCCIP-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050941.1			14	60	0	0	0	1	0	14	60					G	127512145	C	G	127512145	3	3	135	1	0	0	0	0	1	0	0	0	1356	759	27	5	21	5	BCCIP	10	127512145	Missense_Mutation	SNP	C	TCGA-EJ-A8FO-01A-21D-A364-08	21492706	127512145	8022602	10	6879											
OPCML	4978	broad.mit.edu	37	chr11	132306614	132306614	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgcagaggcttcacagctcaGgatgcccttctgaccgactg	8	9	11	13	1	3	2	2	1	1	1	3	4	3	3	2	2	3	3	2	2	0	2			TCGA-EJ-A8FO-01A-21D-A364-08	TCGA-EJ-A8FO-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97bc618f-218f-4eb3-a7f9-ad32524a0be0	109b048e-6856-44d8-a162-3d4c46493327	g.chr11:132306614G>T	ENST00000331898.7	-	5	1302	c.724C>A	c.(724-726)Ctg>Atg	p.L242M	OPCML_ENST00000529038.1_5'UTR|OPCML_ENST00000524381.1_Missense_Mutation_p.L235M|OPCML_ENST00000541867.1_Missense_Mutation_p.L242M|OPCML_ENST00000374778.4_Missense_Mutation_p.L201M	NM_002545.3	NP_002536.1	Q14982	OPCM_HUMAN	opioid binding protein/cell adhesion molecule-like	242	Ig-like C2-type 3.				cell adhesion (GO:0007155)|neuron recognition (GO:0008038)|opioid receptor signaling pathway (GO:0038003)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	opioid receptor activity (GO:0004985)			endometrium(5)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|skin(2)|urinary_tract(8)	47	all_hematologic(175;0.019)	all_cancers(12;5.86e-24)|all_epithelial(12;2.65e-17)|all_lung(97;2.89e-05)|Lung NSC(97;6.16e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0269)|all_neural(223;0.0326)|Esophageal squamous(93;0.129)		all cancers(11;4.61e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.012)		TCACAGCTCAGGATGCCCTTC	0.502																																						ENST00000331898.7																			0				endometrium(5)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|skin(2)|urinary_tract(8)	47						c.(724-726)Ctg>Atg		opioid binding protein/cell adhesion molecule-like							133	115	121					11																	132306614		2201	4297	6498	SO:0001583	missense	4978				cell adhesion|neuron recognition	anchored to membrane|integral to plasma membrane	opioid receptor activity	g.chr11:132306614G>T	BX537377	CCDS8492.1, CCDS31722.1	11q25	2013-01-11	2001-11-28		ENSG00000183715	ENSG00000183715		"Immunoglobulin superfamily / I-set domain containing"	8143	protein-coding gene	gene with protein product	"IgLON family member 1"	600632	"opioid-binding protein/cell adhesion molecule-like"			8244387	Standard	XM_005271578		Approved	OPCM, OBCAM, IGLON1	uc001qgs.3	Q14982	OTTHUMG00000163658	ENST00000331898.7:c.724C>A	11.37:g.132306614G>T	ENSP00000330862:p.Leu242Met					OPCML_ENST00000529038.1_5'UTR|OPCML_ENST00000524381.1_Missense_Mutation_p.L235M|OPCML_ENST00000374778.4_Missense_Mutation_p.L201M|OPCML_ENST00000541867.1_Missense_Mutation_p.L242M	p.L242M	NM_002545.3	NP_002536.1	Q14982	OPCM_HUMAN		all cancers(11;4.61e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.012)	5	1302	-	all_hematologic(175;0.019)	all_cancers(12;5.86e-24)|all_epithelial(12;2.65e-17)|all_lung(97;2.89e-05)|Lung NSC(97;6.16e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0269)|all_neural(223;0.0326)|Esophageal squamous(93;0.129)	242			Ig-like C2-type 3.		B2CZX2|B7ZLQ1|Q17RN7|Q7Z3W6	Missense_Mutation	SNP	ENST00000331898.7	37	c.724C>A	CCDS8492.1	.	.	.	.	.	.	.	.	.	.	G	18.46	3.628729	0.67015	.	.	ENSG00000183715	ENST00000331898;ENST00000524381;ENST00000374778;ENST00000416724;ENST00000541867	D;D;D;D	0.83250	-1.7;-1.7;-1.7;-1.7	5.68	-4.03	0.04021	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);	0.000000	0.64402	D	0.000001	D	0.90553	0.7039	M	0.89968	3.075	0.45502	D	0.998462	D;D;D;D	0.76494	0.988;0.988;0.988;0.999	D;D;D;D	0.73380	0.971;0.971;0.971;0.98	D	0.89950	0.4079	10	0.87932	D	0	-12.3761	14.6521	0.68805	0.188:0.0:0.812:0.0	.	242;235;241;242	B7ZLQ1;Q7Z3W6;B7ZLQ0;Q14982	.;.;.;OPCM_HUMAN	M	242;235;201;209;242	ENSP00000330862:L242M;ENSP00000434750:L235M;ENSP00000363910:L201M;ENSP00000445496:L242M	ENSP00000330862:L242M	L	-	1	2	OPCML	131811824	1.000000	0.71417	0.905000	0.35620	0.859000	0.49053	1.286000	0.33273	-1.028000	0.03321	0.650000	0.86243	CTG		0.502	OPCML-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374689.3	NM_001012393		3	33	1	0	6.4e-05	1	7.31429e-05	3	33					T	132306614	G	T	132306614	3	4	135	1	0	0	0	0	1	0	0	0	10874	991	35	5	325	5	OPCML	11	132306614	Missense_Mutation	SNP	G	TCGA-EJ-A8FO-01A-21D-A364-08		132306614	2699902	11	6880											
ATP12A	479	broad.mit.edu	37	chr13	25266991	25266991	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gataataacattgtgtaaccGagcagagttcaagccaggac	15	8	10	8	1	1	1	1	0	0	1	1	4	1	2	2	1	4	3	2	1	4	5			TCGA-EJ-A8FO-01A-21D-A364-08	TCGA-EJ-A8FO-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97bc618f-218f-4eb3-a7f9-ad32524a0be0	109b048e-6856-44d8-a162-3d4c46493327	g.chr13:25266991G>A	ENST00000381946.3	+	10	1501	c.1334G>A	c.(1333-1335)cGa>cAa	p.R445Q	ATP12A_ENST00000218548.6_Missense_Mutation_p.R451Q			P54707	AT12A_HUMAN	ATPase, H+/K+ transporting, nongastric, alpha polypeptide	445					ATP biosynthetic process (GO:0006754)|ion transmembrane transport (GO:0034220)|potassium ion homeostasis (GO:0055075)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|hydrogen:potassium-exchanging ATPase complex (GO:0005889)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|hydrogen:potassium-exchanging ATPase activity (GO:0008900)|metal ion binding (GO:0046872)	p.R445L(1)		breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5)	74		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)		TTGTGTAACCGAGCAGAGTTC	0.463																																					Pancreas(156;1582 1935 18898 22665 26498)	ENST00000218548.6																			1	Substitution - Missense(1)	p.R445L(1)	lung(1)	breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5)	74						c.(1351-1353)cGa>cAa		ATPase, H+/K+ transporting, nongastric, alpha polypeptide	Esomeprazole(DB00736)|Pantoprazole(DB00213)						196	187	190					13																	25266991		2203	4300	6503	SO:0001583	missense	479				ATP biosynthetic process	hydrogen:potassium-exchanging ATPase complex	ATP binding|hydrogen:potassium-exchanging ATPase activity|metal ion binding	g.chr13:25266991G>A	L42558	CCDS31948.1, CCDS53858.1	13q11-q12.1	2010-04-20	2002-02-25		ENSG00000075673	ENSG00000075673	3.6.3.10	"ATPases / P-type"	13816	protein-coding gene	gene with protein product	"ATPase, Na+K+ transporting, alpha-1 polypeptide-like", "potassium-transporting ATPase alpha chain 2", "proton pump", "non-gastric H(+)/K(+) ATPase alpha subunit", "sodium/potassium ATPase, alpha polypeptide-like"	182360	"ATPase, Na+/K+ transporting, alpha polypeptide-like 1"	ATP1AL1		8838794, 2842249	Standard	NM_001676		Approved		uc010aaa.3	P54707	OTTHUMG00000016588	ENST00000381946.3:c.1334G>A	13.37:g.25266991G>A	ENSP00000371372:p.Arg445Gln					ATP12A_ENST00000381946.3_Missense_Mutation_p.R445Q	p.R451Q	NM_001185085.1|NM_001676.5	NP_001172014.1|NP_001667.4	P54707	AT12A_HUMAN		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)	10	1685	+		Lung SC(185;0.0225)|Breast(139;0.077)	445					Q13816|Q13817|Q16734|Q5W035|Q8N5U2	Missense_Mutation	SNP	ENST00000381946.3	37	c.1352G>A	CCDS31948.1	.	.	.	.	.	.	.	.	.	.	G	30	5.050677	0.93740	.	.	ENSG00000075673	ENST00000218548;ENST00000381946	D;D	0.95756	-3.8;-3.8	5.65	5.65	0.86999	ATPase, cation-transporting, domain N (1);Haloacid dehalogenase-like hydrolase (1);HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	0.000000	0.64402	D	0.000008	D	0.96956	0.9006	M	0.73217	2.22	0.80722	D	1	D;D	0.76494	0.999;0.989	P;B	0.59761	0.863;0.434	D	0.97311	0.9937	10	0.87932	D	0	.	17.2166	0.86946	0.0:0.0:1.0:0.0	.	451;445	P54707-2;P54707	.;AT12A_HUMAN	Q	451;445	ENSP00000218548:R451Q;ENSP00000371372:R445Q	ENSP00000218548:R451Q	R	+	2	0	ATP12A	24164991	1.000000	0.71417	0.996000	0.52242	0.856000	0.48823	7.378000	0.79679	2.667000	0.90743	0.655000	0.94253	CGA		0.463	ATP12A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044199.1	NM_001676		22	131	0	0	0	1	0	22	131					A	25266991	G	A	25266991	3	1	135	1	0	0	0	0	1	0	0	0	1122	1058	37	2	1390	2	ATP12A	13	25266991	Missense_Mutation	SNP	G	TCGA-EJ-A8FO-01A-21D-A364-08		25266991	89902887	12	6881											
SGK269	79834	broad.mit.edu	37	chr15	77406832	77406832	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tggccagctgctgcagacccCgggagtagggggagcggaat	8	5	18	10	2	0	1	0	0	0	1	0	4	0	4	3	5	4	4	3	5	2	1	rs200619883		TCGA-EJ-A8FO-01A-21D-A364-08	TCGA-EJ-A8FO-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97bc618f-218f-4eb3-a7f9-ad32524a0be0	109b048e-6856-44d8-a162-3d4c46493327	g.chr15:77406832C>T	ENST00000560626.2	-	7	5382	c.4907G>A	c.(4906-4908)cGg>cAg	p.R1636Q	PEAK1_ENST00000312493.4_Missense_Mutation_p.R1636Q			Q9H792	PEAK1_HUMAN	pseudopodium-enriched atypical kinase 1	1636	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell migration (GO:0016477)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein autophosphorylation (GO:0046777)|substrate adhesion-dependent cell spreading (GO:0034446)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)										CTGCAGACCCCGGGAGTAGGG	0.602																																						ENST00000560626.2																			0											c.(4906-4908)cGg>cAg		pseudopodium-enriched atypical kinase 1							55	59	57					15																	77406832		1929	4127	6056	SO:0001583	missense	79834				cell migration|protein autophosphorylation|substrate adhesion-dependent cell spreading	actin cytoskeleton|cytoplasm|focal adhesion	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding	g.chr15:77406832C>T		CCDS42062.1	15q24.3	2013-09-27			ENSG00000173517	ENSG00000173517			29431	protein-coding gene	gene with protein product		614248				16879967, 20534451	Standard	NM_024776		Approved	KIAA2002, sgk269		Q9H792	OTTHUMG00000172618	ENST00000560626.2:c.4907G>A	15.37:g.77406832C>T	ENSP00000452796:p.Arg1636Gln					PEAK1_ENST00000312493.4_Missense_Mutation_p.R1636Q	p.R1636Q			Q9H792	PEAK1_HUMAN			7	5382	-			1636			Protein kinase.		Q6ZS78|Q8NAZ4|Q8NCM3|Q8TEG7	Missense_Mutation	SNP	ENST00000560626.2	37	c.4907G>A	CCDS42062.1	.	.	.	.	.	.	.	.	.	.	C	9.483	1.098650	0.20552	.	.	ENSG00000173517	ENST00000312493	T	0.64803	-0.12	5.57	3.58	0.41010	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.373801	0.25156	U	0.032707	T	0.32010	0.0815	N	0.08118	0	0.24154	N	0.995684	B	0.10296	0.003	B	0.04013	0.001	T	0.11397	-1.0589	10	0.11485	T	0.65	-2.9805	3.1669	0.06539	0.1444:0.5535:0.1401:0.162	.	1636	Q9H792	PEAK1_HUMAN	Q	1636	ENSP00000309230:R1636Q	ENSP00000309230:R1636Q	R	-	2	0	AC087465.1	75193887	0.212000	0.23540	0.998000	0.56505	0.986000	0.74619	1.211000	0.32382	1.361000	0.45981	0.561000	0.74099	CGG		0.602	PEAK1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419483.3			6	24	0	0	0	1	0	6	24					T	77406832	C	T	77406832	3	4	135	1	0	0	0	0	1	0	0	0	14211	652	23	2	337	2	SGK269	15	77406832	Missense_Mutation	SNP	C	TCGA-EJ-A8FO-01A-21D-A364-08		77406832	25124560	13	6882											
TEKT5	146279	broad.mit.edu	37	chr16	10729651	10729651	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggatgtccctgcacagctccAtgttggggcgccgggtccgg	4	8	16	13	3	0	0	0	0	0	0	3	1	3	1	4	5	2	3	4	5	0	1			TCGA-EJ-A8FO-01A-21D-A364-08	TCGA-EJ-A8FO-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97bc618f-218f-4eb3-a7f9-ad32524a0be0	109b048e-6856-44d8-a162-3d4c46493327	g.chr16:10729651A>C	ENST00000283025.2	-	6	1282	c.1211T>G	c.(1210-1212)aTg>aGg	p.M404R	TEKT5_ENST00000574923.1_5'UTR	NM_144674.1	NP_653275.1	Q96M29	TEKT5_HUMAN	tektin 5	404						cilium (GO:0005929)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)	34						GCACAGCTCCATGTTGGGGCG	0.622																																						ENST00000283025.2																			0				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)	34						c.(1210-1212)aTg>aGg		tektin 5							97	103	101					16																	10729651		2197	4300	6497	SO:0001583	missense	146279				microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule		g.chr16:10729651A>C		CCDS10542.1	16p13.13	2014-01-21			ENSG00000153060	ENSG00000153060			26554	protein-coding gene	gene with protein product							Standard	NM_144674		Approved	FLJ32871, CT149	uc002czz.1	Q96M29	OTTHUMG00000129750	ENST00000283025.2:c.1211T>G	16.37:g.10729651A>C	ENSP00000283025:p.Met404Arg					TEKT5_ENST00000574923.1_5'UTR	p.M404R	NM_144674.1	NP_653275.1	Q96M29	TEKT5_HUMAN			6	1282	-			404					A1L3Z3	Missense_Mutation	SNP	ENST00000283025.2	37	c.1211T>G	CCDS10542.1	.	.	.	.	.	.	.	.	.	.	A	17.23	3.337044	0.60963	.	.	ENSG00000153060	ENST00000283025	T	0.02631	4.22	4.56	4.56	0.56223	.	0.373885	0.23010	N	0.052970	T	0.05731	0.0150	L	0.49126	1.545	0.28905	N	0.893011	B	0.33266	0.404	B	0.40101	0.319	T	0.03695	-1.1012	10	0.87932	D	0	-24.5501	12.7601	0.57359	1.0:0.0:0.0:0.0	.	404	Q96M29	TEKT5_HUMAN	R	404	ENSP00000283025:M404R	ENSP00000283025:M404R	M	-	2	0	TEKT5	10637152	0.994000	0.37717	0.988000	0.46212	0.837000	0.47467	8.638000	0.91019	1.699000	0.51192	0.454000	0.30748	ATG		0.622	TEKT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251963.1	NM_144674		14	95	0	0	0	1	0	14	95					C	10729651	A	C	10729651	3	2	135	1	0	0	0	0	1	0	0	0	15753	217	8	5	254	5	TEKT5	16	10729651	Missense_Mutation	SNP	A	TCGA-EJ-A8FO-01A-21D-A364-08		10729651	79625102	14	6883											
EEF2K	29904	broad.mit.edu	37	chr16	22268604	22268604	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acttcacttttgagcgttccGgccatcagctgatagtggtg	7	13	11	10	2	2	2	2	2	0	0	3	2	3	2	2	2	2	2	2	2	1	5	rs371880159		TCGA-EJ-A8FO-01A-21D-A364-08	TCGA-EJ-A8FO-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97bc618f-218f-4eb3-a7f9-ad32524a0be0	109b048e-6856-44d8-a162-3d4c46493327	g.chr16:22268604G>A	ENST00000263026.5	+	8	1273	c.799G>A	c.(799-801)Ggc>Agc	p.G267S		NM_013302.3	NP_037434	O00418	EF2K_HUMAN	eukaryotic elongation factor-2 kinase	267	Alpha-type protein kinase. {ECO:0000255|PROSITE-ProRule:PRU00501}.				insulin receptor signaling pathway (GO:0008286)|protein autophosphorylation (GO:0046777)|regulation of protein autophosphorylation (GO:0031952)|translational elongation (GO:0006414)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|elongation factor-2 kinase activity (GO:0004686)|protein kinase activity (GO:0004672)|translation factor activity, nucleic acid binding (GO:0008135)			breast(1)|central_nervous_system(1)|endometrium(8)|large_intestine(2)|lung(13)|ovary(1)|prostate(1)|skin(2)	29				GBM - Glioblastoma multiforme(48;0.0223)		TGAGCGTTCCGGCCATCAGCT	0.572																																					NSCLC(195;1411 2157 20319 27471 51856)	ENST00000263026.5																			0				breast(1)|central_nervous_system(1)|endometrium(8)|large_intestine(2)|lung(13)|ovary(1)|prostate(1)|skin(2)	29						c.(799-801)Ggc>Agc		eukaryotic elongation factor-2 kinase		G	SER/GLY	0,4394		0,0,2197	134	113	120		799	5.9	1	16		120	1,8599	1.2+/-3.3	0,1,4299	no	missense	EEF2K	NM_013302.3	56	0,1,6496	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging	267/726	22268604	1,12993	2197	4300	6497	SO:0001583	missense	29904				insulin receptor signaling pathway|translational elongation	cytosol	ATP binding|calcium ion binding|calmodulin binding|elongation factor-2 kinase activity|translation factor activity, nucleic acid binding	g.chr16:22268604G>A	U93850	CCDS10604.1	16p12	2008-02-05			ENSG00000103319	ENSG00000103319			24615	protein-coding gene	gene with protein product		606968				9144159, 12051769	Standard	NM_013302		Approved	eEF-2K	uc002dki.3	O00418	OTTHUMG00000094771	ENST00000263026.5:c.799G>A	16.37:g.22268604G>A	ENSP00000263026:p.Gly267Ser						p.G267S	NM_013302.3	NP_037434.1	O00418	EF2K_HUMAN		GBM - Glioblastoma multiforme(48;0.0223)	8	1273	+			267			Alpha-type protein kinase.		Q8N588	Missense_Mutation	SNP	ENST00000263026.5	37	c.799G>A	CCDS10604.1	.	.	.	.	.	.	.	.	.	.	G	36	5.724899	0.96847	0.0	1.16E-4	ENSG00000103319	ENST00000263026	T	0.07800	3.16	5.87	5.87	0.94306	MHCK/EF2 kinase (3);Protein kinase-like domain (1);	0.048066	0.85682	D	0.000000	T	0.26774	0.0655	M	0.66506	2.035	0.80722	D	1	D	0.63046	0.992	P	0.59546	0.859	T	0.00044	-1.2222	10	0.54805	T	0.06	-11.8672	20.2191	0.98319	0.0:0.0:1.0:0.0	.	267	O00418	EF2K_HUMAN	S	267	ENSP00000263026:G267S	ENSP00000263026:G267S	G	+	1	0	EEF2K	22176105	1.000000	0.71417	0.980000	0.43619	0.968000	0.65278	9.185000	0.94900	2.780000	0.95670	0.655000	0.94253	GGC		0.572	EEF2K-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211580.2	NM_013302		5	30	0	0	0	1	0	5	30					A	22268604	G	A	22268604	3	1	135	1	0	0	0	0	1	0	0	0	4930	1116	39	2	825	2	EEF2K	16	22268604	Missense_Mutation	SNP	G	TCGA-EJ-A8FO-01A-21D-A364-08	11538953	22268604	68086149	15	6884											
MYH2	4620	broad.mit.edu	37	chr17	10428898	10428898	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gaggcctcaagctcagcatgCgtttcctcacatttctgttt	7	14	8	12	1	4	0	3	0	1	0	5	1	5	0	2	1	3	4	2	1	1	3	rs144654838		TCGA-EJ-A8FO-01A-21D-A364-08	TCGA-EJ-A8FO-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97bc618f-218f-4eb3-a7f9-ad32524a0be0	109b048e-6856-44d8-a162-3d4c46493327	g.chr17:10428898C>T	ENST00000245503.5	-	32	4791	c.4407G>A	c.(4405-4407)acG>acA	p.T1469T	RP11-799N11.1_ENST00000581304.1_RNA|MYH2_ENST00000397183.2_Silent_p.T1469T|CTC-297N7.11_ENST00000587182.2_RNA|MYH2_ENST00000532183.2_Intron|RP11-799N11.1_ENST00000399342.2_RNA	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	1469					Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|plasma membrane repair (GO:0001778)|response to activity (GO:0014823)	A band (GO:0031672)|actomyosin contractile ring (GO:0005826)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|protein complex (GO:0043234)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						GCTCAGCATGCGTTTCCTCAC	0.463																																						ENST00000245503.5																			0				NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						c.(4405-4407)acG>acA		myosin, heavy chain 2, skeletal muscle, adult		C	,	0,4406		0,0,2203	71	74	73		4407,4407	-10.4	0.2	17	dbSNP_134	73	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous,coding-synonymous	MYH2	NM_001100112.1,NM_017534.5	,	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	,	1469/1942,1469/1942	10428898	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	4620				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr17:10428898C>T		CCDS11156.1	17p13.1	2014-02-04	2006-09-29		ENSG00000125414	ENSG00000125414		"Myosins / Myosin superfamily : Class II"	7572	protein-coding gene	gene with protein product		160740	"myosin, heavy polypeptide 2, skeletal muscle, adult", "inclusion body myopathy 3, autosomal dominant"	IBM3		7545970, 11889243	Standard	NM_001100112		Approved	MYH2A, MYHSA2, MyHC-IIa, MYHas8, MyHC-2A	uc010coi.3	Q9UKX2	OTTHUMG00000130363	ENST00000245503.5:c.4407G>A	17.37:g.10428898C>T						CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA|MYH2_ENST00000532183.1_Intron|MYH2_ENST00000397183.2_Silent_p.T1469T|CTC-297N7.7_ENST00000399342.2_RNA	p.T1469T	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN			32	4791	-			1469					A0AVL4|Q14322|Q16229|Q567P6|Q86T56	Silent	SNP	ENST00000245503.5	37	c.4407G>A	CCDS11156.1																																																																																				0.463	MYH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252726.3	NM_017534		9	42	0	0	0	1	0	9	42					T	10428898	C	T	10428898	2	4	135	1	0	0	0	0	0	0	0	1	10035	755	27	1		1	MYH2	17	10428898	Silent	SNP	C	TCGA-EJ-A8FO-01A-21D-A364-08		10428898	70766312	16	6885											
SLC16A5	9121	broad.mit.edu	37	chr17	73096383	73096383	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aatgtcccccgccacctcccGagacacctgcacttggctgc	7	7	8	19	2	0	1	0	0	0	1	2	2	2	1	6	1	2	2	6	1	1	1	rs61735759		TCGA-EJ-A8FO-01A-21D-A364-08	TCGA-EJ-A8FO-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97bc618f-218f-4eb3-a7f9-ad32524a0be0	109b048e-6856-44d8-a162-3d4c46493327	g.chr17:73096383G>A	ENST00000450736.2	+	4	1040	c.625G>A	c.(625-627)Gag>Aag	p.E209K	SLC16A5_ENST00000329783.4_Missense_Mutation_p.E209K|SLC16A5_ENST00000580123.1_Missense_Mutation_p.E209K|SLC16A5_ENST00000538213.2_Missense_Mutation_p.E249K			O15375	MOT6_HUMAN	solute carrier family 16 (monocarboxylate transporter), member 5	209					monocarboxylic acid transport (GO:0015718)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	monocarboxylic acid transmembrane transporter activity (GO:0008028)|secondary active monocarboxylate transmembrane transporter activity (GO:0015355)|symporter activity (GO:0015293)			central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	22	all_lung(278;0.226)		LUSC - Lung squamous cell carcinoma(166;0.162)|Lung(188;0.235)		Pyruvic acid(DB00119)	GCCACCTCCCGAGACACCTGC	0.637																																						ENST00000450736.2																			0				central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	22						c.(625-627)Gag>Aag		solute carrier family 16 (monocarboxylate transporter), member 5	Pyruvic acid(DB00119)	G	LYS/GLU	1,4405	2.1+/-5.4	0,1,2202	60	55	57		625	2.2	0.1	17	dbSNP_129	57	0,8600		0,0,4300	no	missense	SLC16A5	NM_004695.2	56	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	209/506	73096383	1,13005	2203	4300	6503	SO:0001583	missense	9121				organic anion transport	integral to plasma membrane|membrane fraction	secondary active monocarboxylate transmembrane transporter activity|symporter activity	g.chr17:73096383G>A	U59299	CCDS11713.1	17q25.1	2013-07-18	2013-07-18		ENSG00000170190	ENSG00000170190		"Solute carriers"	10926	protein-coding gene	gene with protein product		603879	"solute carrier family 16 (monocarboxylic acid transporters), member 5", "solute carrier family 16, member 5 (monocarboxylic acid transporter 6)"			9425115	Standard	NM_004695		Approved	MCT5, MCT6	uc002jmr.4	O15375	OTTHUMG00000179277	ENST00000450736.2:c.625G>A	17.37:g.73096383G>A	ENSP00000390564:p.Glu209Lys					SLC16A5_ENST00000538213.2_Missense_Mutation_p.E249K|SLC16A5_ENST00000580123.1_Missense_Mutation_p.E209K|SLC16A5_ENST00000329783.4_Missense_Mutation_p.E209K	p.E209K			O15375	MOT6_HUMAN	LUSC - Lung squamous cell carcinoma(166;0.162)|Lung(188;0.235)		4	1040	+	all_lung(278;0.226)		209					B4E288	Missense_Mutation	SNP	ENST00000450736.2	37	c.625G>A	CCDS11713.1	.	.	.	.	.	.	.	.	.	.	G	3.324	-0.138157	0.06669	2.27E-4	0.0	ENSG00000170190	ENST00000329783;ENST00000450736;ENST00000538213	T;T;T	0.56776	0.44;0.44;0.44	4.58	2.17	0.27698	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.857501	0.10673	N	0.647319	T	0.16171	0.0389	N	0.00621	-1.32	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.30822	-0.9965	10	0.07175	T	0.84	.	4.7462	0.13038	0.522:0.1588:0.3191:0.0	.	249;209	B4E288;O15375	.;MOT6_HUMAN	K	209;209;249	ENSP00000330141:E209K;ENSP00000390564:E209K;ENSP00000440212:E249K	ENSP00000330141:E209K	E	+	1	0	SLC16A5	70607978	0.837000	0.29446	0.140000	0.22221	0.102000	0.19082	1.345000	0.33953	0.704000	0.31869	-0.459000	0.05422	GAG		0.637	SLC16A5-004	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000445547.1	NM_004695		3	22	0	0	0	1	0	3	22					A	73096383	G	A	73096383	3	1	135	1	0	0	0	0	1	0	0	0	14411	1059	37	2	635	2	SLC16A5	17	73096383	Missense_Mutation	SNP	G	TCGA-EJ-A8FO-01A-21D-A364-08	62667485	73096383	8098827	17	6886											
NCAN	1463	broad.mit.edu	37	chr19	19338368	19338368	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	aagagtggatgctaccacacCccacccccatctccaccgag	11	5	7	18	1	1	1	0	0	1	1	2	3	1	2	7	1	2	1	7	1	2	1			TCGA-EJ-A8FO-01A-21D-A364-08	TCGA-EJ-A8FO-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97bc618f-218f-4eb3-a7f9-ad32524a0be0	109b048e-6856-44d8-a162-3d4c46493327	g.chr19:19338368C>A	ENST00000252575.6	+	8	2038	c.1939C>A	c.(1939-1941)Ccc>Acc	p.P647T	NCAN_ENST00000538881.1_Missense_Mutation_p.P98T	NM_004386.2	NP_004377.2	O14594	NCAN_HUMAN	neurocan	647					axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|regulation of synapse structural plasticity (GO:0051823)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|hyaluronic acid binding (GO:0005540)			breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64			Epithelial(12;0.00544)		Hyaluronan(DB08818)	GCTACCACACCCCACCCCCAT	0.632																																						ENST00000252575.5																			0				breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64						c.(1939-1941)Ccc>Acc		neurocan							68	66	67					19																	19338368		2203	4300	6503	SO:0001583	missense	1463				axon guidance|cell adhesion	extracellular region	calcium ion binding|hyaluronic acid binding|sugar binding	g.chr19:19338368C>A	AF026547	CCDS12397.1	19p12	2014-01-30	2007-02-15	2007-02-15	ENSG00000130287	ENSG00000130287		"Immunoglobulin superfamily / V-set domain containing", "Proteoglycans / Extracellular Matrix : Hyalectans", "Endogenous ligands"	2465	protein-coding gene	gene with protein product	"neurocan proteoglycan"	600826	"chondroitin sulfate proteoglycan 3"	CSPG3		1326557, 21353194	Standard	NM_004386		Approved		uc002nlz.3	O14594		ENST00000252575.6:c.1939C>A	19.37:g.19338368C>A	ENSP00000252575:p.Pro647Thr					NCAN_ENST00000538881.1_Missense_Mutation_p.P98T	p.P647T	NM_004386.2	NP_004377.2	O14594	NCAN_HUMAN	Epithelial(12;0.00544)		8	1982	+			647					Q9UPK6	Missense_Mutation	SNP	ENST00000252575.6	37	c.1939C>A	CCDS12397.1	.	.	.	.	.	.	.	.	.	.	C	9.563	1.118959	0.20877	.	.	ENSG00000130287	ENST00000539499;ENST00000252575;ENST00000538881	D;D	0.86769	-1.91;-2.17	4.4	1.02	0.19986	.	0.678119	0.12264	N	0.484464	T	0.74816	0.3766	N	0.24115	0.695	0.09310	N	1	B;B	0.27823	0.19;0.041	B;B	0.30029	0.11;0.037	T	0.58983	-0.7539	10	0.18276	T	0.48	-0.107	5.4929	0.16787	0.0:0.5439:0.0:0.4561	.	661;647	Q4LE67;O14594	.;NCAN_HUMAN	T	661;647;98	ENSP00000252575:P647T;ENSP00000442202:P98T	ENSP00000252575:P647T	P	+	1	0	NCAN	19199368	0.003000	0.15002	0.008000	0.14137	0.006000	0.05464	0.294000	0.19047	0.148000	0.19059	-1.036000	0.02392	CCC		0.632	NCAN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460111.2	NM_004386		3	43	1	0	0.115264	1	0.115264	3	43					A	19338368	C	A	19338368	3	1	135	1	0	0	0	0	1	0	0	0	10204	623	22	5	1965	5	NCAN	19	19338368	Missense_Mutation	SNP	C	TCGA-EJ-A8FO-01A-21D-A364-08		19338368	39790615	18	6887											
ATAD3B	83858	broad.mit.edu	37	chr1	1425747	1425747	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagcaggaggagcgggagcGcctggtgagactgcattttg	8	7	18	8	2	0	1	0	1	0	1	0	5	0	4	1	4	4	3	1	4	0	2			TCGA-EJ-A8FP-01A-21D-A364-08	TCGA-EJ-A8FP-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac97df1b-05e5-4a00-a8b6-62d758397f3b	2f1be801-cd94-47b5-90b7-e2aea915e66b	g.chr1:1425747G>A	ENST00000308647.7	+	14	1564	c.1448G>A	c.(1447-1449)cGc>cAc	p.R483H		NM_031921.4	NP_114127.3	Q5T9A4	ATD3B_HUMAN	ATPase family, AAA domain containing 3B	483						mitochondrial inner membrane (GO:0005743)	ATP binding (GO:0005524)			endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(2)|urinary_tract(1)	10	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		GAGCGGGAGCGCCTGGTGAGA	0.592																																						ENST00000308647.7																			0				endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(2)|urinary_tract(1)	10						c.(1447-1449)cGc>cAc		ATPase family, AAA domain containing 3B							74	65	68					1																	1425747		2202	4299	6501	SO:0001583	missense	83858						ATP binding|nucleoside-triphosphatase activity	g.chr1:1425747G>A	AL834179	CCDS30.1	1p36.33	2010-04-21		2007-02-08	ENSG00000160072	ENSG00000160072		"ATPases / AAA-type"	24007	protein-coding gene	gene with protein product		612317				10574462	Standard	XM_005244806		Approved	TOB3, KIAA1273	uc001afv.3	Q5T9A4	OTTHUMG00000000577	ENST00000308647.7:c.1448G>A	1.37:g.1425747G>A	ENSP00000311766:p.Arg483His						p.R483H	NM_031921.4	NP_114127.3	Q5T9A4	ATD3B_HUMAN		Epithelial(90;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)	14	1564	+	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)	483					A8K3H1|Q6ZRB5|Q9BUK4|Q9ULE7	Missense_Mutation	SNP	ENST00000308647.7	37	c.1448G>A	CCDS30.1	.	.	.	.	.	.	.	.	.	.	.	14.82	2.650807	0.47362	.	.	ENSG00000160072	ENST00000378737;ENST00000308647	D	0.95137	-3.62	2.07	2.07	0.26955	.	0.000000	0.85682	D	0.000000	D	0.96713	0.8927	M	0.83852	2.665	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.991	D	0.96520	0.9385	10	0.87932	D	0	.	11.3902	0.49809	0.0:0.0:1.0:0.0	.	437;483	Q5T9A4-3;Q5T9A4	.;ATD3B_HUMAN	H	286;483	ENSP00000311766:R483H	ENSP00000311766:R483H	R	+	2	0	ATAD3B	1415610	1.000000	0.71417	1.000000	0.80357	0.051000	0.14879	9.351000	0.97073	1.139000	0.42245	0.205000	0.17691	CGC		0.592	ATAD3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001369.2	NM_031921		3	55	0	0	0	1	0	3	55					A	1425747	G	A	1425747	3	1	136	1	0	0	0	0	1	0	0	0	1074	1087	38	1	1502	1	ATAD3B	1	1425747	Missense_Mutation	SNP	G	TCGA-EJ-A8FP-01A-21D-A364-08		1425747	247824874	1	6888											
CACNA1E	777	broad.mit.edu	37	chr1	181745336	181745336	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acttggacgagtttgtccgcGtctgggcagaatatgaccga	9	10	13	9	4	1	2	0	1	1	1	2	5	2	3	2	2	0	2	2	2	2	3	rs368636412		TCGA-EJ-A8FP-01A-21D-A364-08	TCGA-EJ-A8FP-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac97df1b-05e5-4a00-a8b6-62d758397f3b	2f1be801-cd94-47b5-90b7-e2aea915e66b	g.chr1:181745336G>A	ENST00000367573.2	+	38	5239	c.5239G>A	c.(5239-5241)Gtc>Atc	p.V1747I	CACNA1E_ENST00000526775.1_Missense_Mutation_p.V1728I|CACNA1E_ENST00000367570.1_Missense_Mutation_p.V1747I|CACNA1E_ENST00000357570.5_Missense_Mutation_p.V1698I|CACNA1E_ENST00000360108.3_Missense_Mutation_p.V1728I|CACNA1E_ENST00000358338.5_Missense_Mutation_p.V1679I|CACNA1E_ENST00000367567.4_Missense_Mutation_p.V1354I	NM_001205293.1	NP_001192222.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	1747	EF-hand. {ECO:0000255|PROSITE- ProRule:PRU00448}.				calcium ion import (GO:0070509)|energy reserve metabolic process (GO:0006112)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|voltage-gated calcium channel activity (GO:0005245)			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						GTTTGTCCGCGTCTGGGCAGA	0.612													G|||	1	0.000199681	0	0	5008	,	,		18929	0.001		0	False		,,,				2504	0					ENST00000526775.1																			0				NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						c.(5182-5184)Gtc>Atc		calcium channel, voltage-dependent, R type, alpha 1E subunit		G	ILE/VAL,ILE/VAL,ILE/VAL	1,3941		0,1,1970	122	123	123		5239,5239,5182	4	0.9	1		123	0,8296		0,0,4148	no	missense,missense,missense	CACNA1E	NM_000721.3,NM_001205293.1,NM_001205294.1	29,29,29	0,1,6118	AA,AG,GG		0.0,0.0254,0.0082	benign,benign,benign	1747/2271,1747/2314,1728/2252	181745336	1,12237	1971	4148	6119	SO:0001583	missense	777				energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr1:181745336G>A	AK096563	CCDS53443.1, CCDS55664.1, CCDS55665.1	1q25.3	2013-01-10	2007-02-16		ENSG00000198216	ENSG00000198216		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels", "EF-hand domain containing"	1392	protein-coding gene	gene with protein product		601013		CACNL1A6		8388125, 16382099	Standard	NM_001205293		Approved	Cav2.3, BII, CACH6	uc009wxt.3	Q15878	OTTHUMG00000037301	ENST00000367573.2:c.5239G>A	1.37:g.181745336G>A	ENSP00000356545:p.Val1747Ile					CACNA1E_ENST00000357570.5_Missense_Mutation_p.V1698I|CACNA1E_ENST00000367570.1_Missense_Mutation_p.V1747I|CACNA1E_ENST00000367573.2_Missense_Mutation_p.V1747I|CACNA1E_ENST00000360108.3_Missense_Mutation_p.V1728I|CACNA1E_ENST00000358338.5_Missense_Mutation_p.V1679I|CACNA1E_ENST00000367567.4_Missense_Mutation_p.V1354I	p.V1728I	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN			37	5347	+			1747					B1AM12|B1AM13|B1AM14|Q14580|Q14581	Missense_Mutation	SNP	ENST00000367573.2	37	c.5182G>A	CCDS55664.1	.	.	.	.	.	.	.	.	.	.	G	15.68	2.904911	0.52333	2.54E-4	0.0	ENSG00000198216	ENST00000367570;ENST00000526775;ENST00000357570;ENST00000358338;ENST00000367567;ENST00000360108;ENST00000367573	D;D;D;D;D;D;D	0.96104	-3.86;-3.85;-3.91;-3.84;-3.9;-3.91;-3.91	5.83	3.95	0.45737	.	0.050953	0.85682	D	0.000000	D	0.88123	0.6352	N	0.25201	0.72	0.44030	D	0.996754	B;B;B	0.15141	0.003;0.012;0.005	B;B;B	0.15052	0.012;0.005;0.004	T	0.79902	-0.1607	10	0.12430	T	0.62	.	5.692	0.17835	0.3568:0.0:0.6432:0.0	.	1728;1747;1747	Q15878-2;Q15878;Q15878-3	.;CAC1E_HUMAN;.	I	1747;1728;1698;1679;1354;1728;1747	ENSP00000356542:V1747I;ENSP00000434814:V1728I;ENSP00000350183:V1698I;ENSP00000351101:V1679I;ENSP00000356539:V1354I;ENSP00000353222:V1728I;ENSP00000356545:V1747I	ENSP00000350183:V1698I	V	+	1	0	CACNA1E	180011959	1.000000	0.71417	0.938000	0.37757	0.993000	0.82548	4.211000	0.58507	1.472000	0.48140	0.655000	0.94253	GTC		0.612	CACNA1E-003	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090793.2	NM_000721		5	156	0	0	0	1	0	5	156					A	181745336	G	A	181745336	3	1	136	1	0	0	0	0	1	0	0	0	2542	1145	40	1	5389	1	CACNA1E	1	181745336	Missense_Mutation	SNP	G	TCGA-EJ-A8FP-01A-21D-A364-08	180319589	181745336	67505285	2	6889											
NRXN1	9378	broad.mit.edu	37	chr2	50765424	50765424	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgccaagatagcctgttcCggaacaatcacagacatatc	13	8	7	13	1	1	2	1	0	0	2	3	3	2	3	4	1	3	1	4	1	5	3			TCGA-EJ-A8FP-01A-21D-A364-08	TCGA-EJ-A8FP-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac97df1b-05e5-4a00-a8b6-62d758397f3b	2f1be801-cd94-47b5-90b7-e2aea915e66b	g.chr2:50765424C>A	ENST00000406316.2	-	10	3586	c.2110G>T	c.(2110-2112)Gga>Tga	p.G704*	NRXN1_ENST00000406859.3_Nonsense_Mutation_p.G704*|NRXN1_ENST00000404971.1_Nonsense_Mutation_p.G744*|NRXN1_ENST00000401669.2_Nonsense_Mutation_p.G704*|NRXN1_ENST00000405472.3_Nonsense_Mutation_p.G696*|NRXN1_ENST00000331040.5_5'UTR|NRXN1_ENST00000402717.3_Nonsense_Mutation_p.G696*	NM_004801.4	NP_004792.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	704	EGF-like 2. {ECO:0000255|PROSITE- ProRule:PRU00076}.				adult behavior (GO:0030534)|axon guidance (GO:0007411)|calcium-dependent cell-cell adhesion (GO:0016339)|cerebellar granule cell differentiation (GO:0021707)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|gamma-aminobutyric acid receptor clustering (GO:0097112)|gephyrin clustering (GO:0097116)|guanylate kinase-associated protein clustering (GO:0097117)|heterophilic cell-cell adhesion (GO:0007157)|learning (GO:0007612)|N-methyl-D-aspartate receptor clustering (GO:0097114)|negative regulation of filopodium assembly (GO:0051490)|neuroligin clustering (GO:0097118)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|neuron maturation (GO:0042551)|neurotransmitter secretion (GO:0007269)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|receptor localization to synapse (GO:0097120)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic vesicle clustering (GO:0097091)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	axonal growth cone (GO:0044295)|cell junction (GO:0030054)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	acetylcholine receptor binding (GO:0033130)|calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|cell adhesion molecule binding (GO:0050839)|neuroligin family protein binding (GO:0097109)|receptor activity (GO:0004872)			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			TAGCCTGTTCCGGAACAATCA	0.463																																						ENST00000404971.1																			0				breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58						c.(2230-2232)Gga>Tga		neurexin 1							144	143	143					2																	50765424		2006	4177	6183	SO:0001587	stop_gained	9378				adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity	g.chr2:50765424C>A	AB011150	CCDS1845.1, CCDS46282.1, CCDS54360.1	2p16.3	2008-05-15			ENSG00000179915	ENSG00000179915			8008	protein-coding gene	gene with protein product		600565					Standard	NM_001135659		Approved	KIAA0578, Hs.22998	uc021vhj.1	P58400	OTTHUMG00000129263	ENST00000406316.2:c.2110G>T	2.37:g.50765424C>A	ENSP00000384311:p.Gly704*					NRXN1_ENST00000331040.5_5'UTR|NRXN1_ENST00000406859.3_Nonsense_Mutation_p.G704*|NRXN1_ENST00000405472.3_Nonsense_Mutation_p.G696*|NRXN1_ENST00000401669.2_Nonsense_Mutation_p.G704*|NRXN1_ENST00000402717.3_Nonsense_Mutation_p.G696*|NRXN1_ENST00000406316.2_Nonsense_Mutation_p.G704*	p.G744*	NM_001135659.1	NP_001129131.1	Q9ULB1	NRX1A_HUMAN	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)		11	3569	-		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	704			Laminin G-like 4.		A7KRL9|O60323|Q53TJ9|Q53TQ1|Q9C079|Q9C080|Q9C081|Q9H3M2|Q9UDM6	Nonsense_Mutation	SNP	ENST00000406316.2	37	c.2230G>T	CCDS54360.1	.	.	.	.	.	.	.	.	.	.	C	49	15.610563	0.99839	.	.	ENSG00000179915	ENST00000404971;ENST00000406316;ENST00000405472;ENST00000401669;ENST00000536085;ENST00000402717;ENST00000406859	.	.	.	5.11	5.11	0.69529	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	.	18.7326	0.91741	0.0:1.0:0.0:0.0	.	.	.	.	X	744;704;696;704;745;696;704	.	ENSP00000385017:G704X	G	-	1	0	NRXN1	50618928	1.000000	0.71417	0.998000	0.56505	0.991000	0.79684	7.651000	0.83577	2.649000	0.89929	0.650000	0.86243	GGA		0.463	NRXN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000325291.2			4	176	1	0	2.56e-06	1	2.98667e-06	4	176					A	50765424	C	A	50765424	4	1	136	1	0	0	0	0	0	1	0	0	10665	661	23	5	2732	5	NRXN1	2	50765424	Nonsense_Mutation	SNP	C	TCGA-EJ-A8FP-01A-21D-A364-08		50765424	192433949	3	6890											
KBTBD10	10324	broad.mit.edu	37	chr2	170367317	170367317	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cattccagcattgttacccaGcaaaatcagatatatgtggt	13	12	7	9	0	1	1	1	0	0	1	2	1	2	1	2	1	3	3	2	1	5	5			TCGA-EJ-A8FP-01A-21D-A364-08	TCGA-EJ-A8FP-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac97df1b-05e5-4a00-a8b6-62d758397f3b	2f1be801-cd94-47b5-90b7-e2aea915e66b	g.chr2:170367317G>C	ENST00000284669.1	+	1	1106	c.1029G>C	c.(1027-1029)caG>caC	p.Q343H	RP11-724O16.1_ENST00000513963.1_Intron|BBS5_ENST00000554017.1_Intron	NM_006063.2	NP_006054.2	O60662	KLH41_HUMAN	kelch-like family member 41	343					myofibril assembly (GO:0030239)|protein ubiquitination (GO:0016567)|regulation of lateral pseudopodium assembly (GO:0031275)|regulation of myoblast differentiation (GO:0045661)|regulation of myoblast proliferation (GO:2000291)|regulation of skeletal muscle cell differentiation (GO:2001014)|skeletal muscle cell differentiation (GO:0035914)|striated muscle contraction (GO:0006941)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|M band (GO:0031430)|pseudopodium (GO:0031143)											TTGTTACCCAGCAAAATCAGA	0.423																																						ENST00000284669.1																			0											c.(1027-1029)caG>caC		kelch-like family member 41							94	96	95					2																	170367317		2203	4300	6503	SO:0001583	missense	10324							g.chr2:170367317G>C	AF056929	CCDS2234.1	2q31.1	2013-02-22	2013-02-22	2013-01-08	ENSG00000239474	ENSG00000239474		"Kelch-like", "BTB/POZ domain containing"	16905	protein-coding gene	gene with protein product	"sarcomeric muscle protein"	607701	"kelch repeat and BTB (POZ) domain containing 10", "kelch-like 41 (Drosophila)"	KBTBD10		9655184	Standard	NM_006063		Approved	SARCOSIN, Krp1	uc002ueu.1	O60662	OTTHUMG00000132205	ENST00000284669.1:c.1029G>C	2.37:g.170367317G>C	ENSP00000284669:p.Gln343His					BBS5_ENST00000554017.1_Intron|RP11-724O16.1_ENST00000513963.1_Intron	p.Q343H	NM_006063.2	NP_006054.2					1	1106	+								Q53R42	Missense_Mutation	SNP	ENST00000284669.1	37	c.1029G>C	CCDS2234.1	.	.	.	.	.	.	.	.	.	.	G	9.524	1.108988	0.20714	.	.	ENSG00000239474	ENST00000284669	T	0.65732	-0.17	5.47	0.245	0.15512	Kelch-type beta propeller (1);	0.099932	0.64402	D	0.000003	T	0.42765	0.1217	N	0.19112	0.55	0.33846	D	0.632009	B	0.14438	0.01	B	0.20384	0.029	T	0.36065	-0.9763	10	0.42905	T	0.14	.	9.3042	0.37865	0.7076:0.0:0.2924:0.0	.	343	O60662	KBTBA_HUMAN	H	343	ENSP00000284669:Q343H	ENSP00000284669:Q343H	Q	+	3	2	KBTBD10	170075563	1.000000	0.71417	0.997000	0.53966	0.979000	0.70002	1.006000	0.29847	-0.188000	0.10499	0.467000	0.42956	CAG		0.423	KLHL41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255263.1	NM_006063		3	69	0	0	0	1	0	3	69					C	170367317	G	C	170367317	3	2	136	1	0	0	0	0	1	0	0	0	7990	962	34	5	1031	5	KBTBD10	2	170367317	Missense_Mutation	SNP	G	TCGA-EJ-A8FP-01A-21D-A364-08	119601893	170367317	72832056	4	6891											
SKIL	6498	broad.mit.edu	37	chr3	170078822	170078822	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gattatgtaatgctttattgCggccacgaacttttcctcaa	10	15	7	9	2	1	0	1	0	0	0	2	2	2	0	2	1	3	2	2	1	5	7			TCGA-EJ-A8FP-01A-21D-A364-08	TCGA-EJ-A8FP-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac97df1b-05e5-4a00-a8b6-62d758397f3b	2f1be801-cd94-47b5-90b7-e2aea915e66b	g.chr3:170078822C>A	ENST00000458537.3	+	1	1412	c.703C>A	c.(703-705)Cgg>Agg	p.R235R	SKIL_ENST00000413427.2_Silent_p.R235R|SKIL_ENST00000259119.4_Silent_p.R235R|SKIL_ENST00000426052.2_Silent_p.R215R	NM_001145097.2|NM_001248008.1|NM_005414.4	NP_001138569.1|NP_001234937.1|NP_005405.2	P12757	SKIL_HUMAN	SKI-like proto-oncogene	235					blastocyst formation (GO:0001825)|cell cycle arrest (GO:0007050)|gene expression (GO:0010467)|lens fiber cell differentiation (GO:0070306)|lymphocyte homeostasis (GO:0002260)|negative regulation of cell differentiation (GO:0045596)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|positive regulation of axonogenesis (GO:0050772)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902231)|protein heterotrimerization (GO:0070208)|protein homotrimerization (GO:0070207)|regulation of apoptotic process (GO:0042981)|response to antibiotic (GO:0046677)|response to cytokine (GO:0034097)|response to growth factor (GO:0070848)|skeletal muscle tissue development (GO:0007519)|spermatogenesis (GO:0007283)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	acrosomal vesicle (GO:0001669)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|protein complex binding (GO:0032403)|protein domain specific binding (GO:0019904)|SMAD binding (GO:0046332)|transcription corepressor activity (GO:0003714)			cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(12)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	25	all_cancers(22;7.13e-23)|all_epithelial(15;9.95e-28)|all_lung(20;1.23e-16)|Lung NSC(18;5.15e-16)|Ovarian(172;0.000337)|Breast(254;0.137)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197)			TGCTTTATTGCGGCCACGAAC	0.433																																						ENST00000458537.3																			0				cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(12)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	25						c.(703-705)Cgg>Agg		SKI-like oncogene							112	98	103					3																	170078822		2203	4300	6503	SO:0001819	synonymous_variant	6498				cell cycle arrest|negative regulation of cell differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of axonogenesis|protein heterotrimerization|protein homotrimerization|regulation of apoptosis|response to antibiotic|response to growth factor stimulus|skeletal muscle tissue development	cytoplasm|PML body	chromatin binding|nucleotide binding|protein complex binding|protein domain specific binding|SMAD binding|transcription corepressor activity|transcription repressor activity	g.chr3:170078822C>A	X15217	CCDS33890.1, CCDS46953.1, CCDS46954.1	3q26	2014-06-25	2014-06-25		ENSG00000136603	ENSG00000136603		"SKI transcriptional corepressors"	10897	protein-coding gene	gene with protein product		165340	"SKI-like oncogene"			2762147	Standard	NM_005414		Approved	SNO, SnoN, SnoA	uc003fgw.3	P12757	OTTHUMG00000158831	ENST00000458537.3:c.703C>A	3.37:g.170078822C>A						SKIL_ENST00000259119.4_Silent_p.R235R|SKIL_ENST00000426052.2_Silent_p.R215R|SKIL_ENST00000413427.2_Silent_p.R235R	p.R235R	NM_001145097.2|NM_001248008.1|NM_005414.4	NP_001138569.1|NP_001234937.1|NP_005405.2	P12757	SKIL_HUMAN	Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197)		1	1412	+	all_cancers(22;7.13e-23)|all_epithelial(15;9.95e-28)|all_lung(20;1.23e-16)|Lung NSC(18;5.15e-16)|Ovarian(172;0.000337)|Breast(254;0.137)		235					A6NGT1|B4DT50|O00464|P12756|Q07501	Silent	SNP	ENST00000458537.3	37	c.703C>A	CCDS33890.1																																																																																				0.433	SKIL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352351.4	NM_005414		4	145	1	0	0.00909568	1	0.0093632	4	145					A	170078822	C	A	170078822	2	1	136	1	0	0	0	0	0	0	0	1	14358	759	27	5		5	SKIL	3	170078822	Silent	SNP	C	TCGA-EJ-A8FP-01A-21D-A364-08		170078822	27943608	5	6892											
SPATA18	132671	broad.mit.edu	37	chr4	52927028	52927028	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cctttactgctgcttccctgGgaaaatctgttgacagcaag	9	12	9	11	0	1	1	0	1	1	0	2	2	2	2	2	1	4	4	2	1	4	4			TCGA-EJ-A8FP-01A-21D-A364-08	TCGA-EJ-A8FP-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac97df1b-05e5-4a00-a8b6-62d758397f3b	2f1be801-cd94-47b5-90b7-e2aea915e66b	g.chr4:52927028G>A	ENST00000295213.4	+	3	648	c.274G>A	c.(274-276)Gga>Aga	p.G92R	SPATA18_ENST00000419395.2_Missense_Mutation_p.G92R|SPATA18_ENST00000506829.1_Intron	NM_145263.2	NP_660306.1	Q8TC71	MIEAP_HUMAN	spermatogenesis associated 18	92					cellular response to DNA damage stimulus (GO:0006974)|mitochondrial protein catabolic process (GO:0035694)|mitochondrion degradation by induced vacuole formation (GO:0035695)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrial outer membrane (GO:0005741)				breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41			GBM - Glioblastoma multiforme(4;1.77e-13)|LUSC - Lung squamous cell carcinoma(32;0.00204)			TGCTTCCCTGGGAAAATCTGT	0.468																																						ENST00000295213.4																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						c.(274-276)Gga>Aga		spermatogenesis associated 18							139	114	122					4																	52927028		2203	4300	6503	SO:0001583	missense	132671				mitochondrial protein catabolic process|mitochondrion degradation by induced vacuole formation|response to DNA damage stimulus	mitochondrial outer membrane	protein binding	g.chr4:52927028G>A	BC025396	CCDS3489.1, CCDS75124.1	4q11	2012-01-23	2012-01-23		ENSG00000163071	ENSG00000163071			29579	protein-coding gene	gene with protein product		612814	"spermatogenesis associated 18 homolog (rat)"			21300779	Standard	XR_245253		Approved	FLJ32906	uc003gzl.3	Q8TC71	OTTHUMG00000128698	ENST00000295213.4:c.274G>A	4.37:g.52927028G>A	ENSP00000295213:p.Gly92Arg					SPATA18_ENST00000419395.2_Missense_Mutation_p.G92R|SPATA18_ENST00000506829.1_Intron	p.G92R	NM_145263.2	NP_660306.1	Q8TC71	MIEAP_HUMAN	GBM - Glioblastoma multiforme(4;1.77e-13)|LUSC - Lung squamous cell carcinoma(32;0.00204)		3	648	+			92					B4E2R0|E5RLK1|Q8IY48|Q8N7D7	Missense_Mutation	SNP	ENST00000295213.4	37	c.274G>A	CCDS3489.1	.	.	.	.	.	.	.	.	.	.	G	19.08	3.757670	0.69648	.	.	ENSG00000163071	ENST00000295213;ENST00000419395	T;T	0.33865	1.87;1.39	4.81	4.81	0.61882	.	0.265321	0.37809	N	0.001931	T	0.57858	0.2082	M	0.70275	2.135	0.23366	N	0.997821	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.79108	0.992;0.992;0.986	T	0.51888	-0.8648	10	0.72032	D	0.01	-20.9189	13.5497	0.61726	0.0:0.0:1.0:0.0	.	92;92;92	Q8TC71-2;Q8TC71;Q96M13	.;MIEAP_HUMAN;.	R	92	ENSP00000295213:G92R;ENSP00000415309:G92R	ENSP00000295213:G92R	G	+	1	0	SPATA18	52621785	1.000000	0.71417	0.547000	0.28179	0.519000	0.34347	3.568000	0.53820	2.651000	0.90000	0.462000	0.41574	GGA		0.468	SPATA18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250597.2	NM_145263		3	56	0	0	0	1	0	3	56					A	52927028	G	A	52927028	3	1	136	1	0	0	0	0	1	0	0	0	15002	1233	43	3	284	3	SPATA18	4	52927028	Missense_Mutation	SNP	G	TCGA-EJ-A8FP-01A-21D-A364-08		52927028	138227248	6	6893											
PRDM8	56978	broad.mit.edu	37	chr4	81123252	81123252	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggcggcggtggcaaagaccaGcagcagcagcagcaggaggc	11	1	18	11	2	0	1	0	0	0	1	0	2	0	2	1	6	5	6	1	6	1	0			TCGA-EJ-A8FP-01A-21D-A364-08	TCGA-EJ-A8FP-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac97df1b-05e5-4a00-a8b6-62d758397f3b	2f1be801-cd94-47b5-90b7-e2aea915e66b	g.chr4:81123252G>C	ENST00000504452.1	+	8	1475	c.636G>C	c.(634-636)caG>caC	p.Q212H	PRDM8_ENST00000415738.2_Missense_Mutation_p.Q212H|PRDM8_ENST00000339711.4_Missense_Mutation_p.Q212H			Q9NQV8	PRDM8_HUMAN	PR domain containing 8	212	Gly-rich.|Poly-Gln.				corpus callosum morphogenesis (GO:0021540)|corticospinal tract morphogenesis (GO:0021957)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone methyltransferase activity (H3-K9 specific) (GO:0046974)|metal ion binding (GO:0046872)|transcription corepressor activity (GO:0003714)			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(2)	10						gcaaagaccagcagcagcagc	0.652											OREG0016246	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000339711.4																			0				breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(2)	10						c.(634-636)caG>caC		PR domain containing 8							21	27	25					4																	81123252		2021	4184	6205	SO:0001583	missense	56978				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr4:81123252G>C	AF275815	CCDS43243.1	4q21	2008-08-21				ENSG00000152784			13993	protein-coding gene	gene with protein product							Standard	NM_020226		Approved		uc003hmc.4	Q9NQV8		ENST00000504452.1:c.636G>C	4.37:g.81123252G>C	ENSP00000423985:p.Gln212His		OREG0016246	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1203	PRDM8_ENST00000504452.1_Missense_Mutation_p.Q212H|PRDM8_ENST00000415738.2_Missense_Mutation_p.Q212H	p.Q212H	NM_020226.3	NP_064611.3	Q9NQV8	PRDM8_HUMAN			10	1867	+			212			Gly-rich.|Poly-Gln.		A8K7X2|Q6IQ36	Missense_Mutation	SNP	ENST00000504452.1	37	c.636G>C	CCDS43243.1	.	.	.	.	.	.	.	.	.	.	G	3.493	-0.103514	0.06967	.	.	ENSG00000152784	ENST00000504452;ENST00000515013;ENST00000339711;ENST00000415738	T;T;T;T	0.65916	-0.18;0.4;-0.18;-0.18	4.62	-4.47	0.03525	.	5.058670	0.00559	N	0.000261	T	0.46132	0.1377	N	0.24115	0.695	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.26985	-1.0087	10	0.29301	T	0.29	.	8.4825	0.33052	0.2299:0.4579:0.3122:0.0	.	212	Q9NQV8	PRDM8_HUMAN	H	212	ENSP00000423985:Q212H;ENSP00000425149:Q212H;ENSP00000339764:Q212H;ENSP00000406998:Q212H	ENSP00000339764:Q212H	Q	+	3	2	PRDM8	81342276	0.732000	0.28121	0.000000	0.03702	0.003000	0.03518	-1.260000	0.02858	-1.567000	0.01671	-2.229000	0.00292	CAG		0.652	PRDM8-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362793.1			6	59	0	0	0	1	0	6	59					C	81123252	G	C	81123252	3	2	136	1	0	0	0	0	1	0	0	0	12462	962	34	5	646	5	PRDM8	4	81123252	Missense_Mutation	SNP	G	TCGA-EJ-A8FP-01A-21D-A364-08	28196224	81123252	110031024	7	6894											
TAP1	6890	broad.mit.edu	37	chr6	32813387	32813387	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catctgcaggagcctgcaccAtggcccagtagcaccccttt	8	8	9	16	0	1	0	0	0	1	0	1	1	1	1	5	2	4	4	5	2	1	2			TCGA-EJ-A8FP-01A-21D-A364-08	TCGA-EJ-A8FP-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac97df1b-05e5-4a00-a8b6-62d758397f3b	2f1be801-cd94-47b5-90b7-e2aea915e66b	g.chr6:32813387A>G	ENST00000354258.4	-	11	2557	c.2396T>C	c.(2395-2397)aTg>aCg	p.M799T	PSMB8_ENST00000374882.3_5'Flank|TAP1_ENST00000425148.2_Missense_Mutation_p.M538T|PSMB8_ENST00000374881.2_5'Flank|PSMB9_ENST00000395330.1_Intron|PSMB8_ENST00000395339.3_5'Flank|TAPSAR1_ENST00000453426.1_lincRNA	NM_000593.5	NP_000584.2	Q03518	TAP1_HUMAN	transporter 1, ATP-binding cassette, sub-family B (MDR/TAP)	799	ABC transporter. {ECO:0000255|PROSITE- ProRule:PRU00434}.				antigen processing and presentation of endogenous peptide antigen via MHC class I (GO:0019885)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytosol to ER transport (GO:0046967)|defense response (GO:0006952)|intracellular transport of viral protein in host cell (GO:0019060)|peptide transport (GO:0015833)|transmembrane transport (GO:0055085)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrion (GO:0005739)|TAP complex (GO:0042825)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|MHC class Ib protein binding (GO:0023029)|peptide antigen binding (GO:0042605)|peptide transporter activity (GO:0015197)|protein homodimerization activity (GO:0042803)|TAP1 binding (GO:0046978)|TAP2 binding (GO:0046979)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(4)|prostate(1)|skin(1)	21					Lapatinib(DB01259)	AGCCTGCACCATGGCCCAGTA	0.582																																						ENST00000354258.4																			0				breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(4)|prostate(1)|skin(1)	21						c.(2395-2397)aTg>aCg		transporter 1, ATP-binding cassette, sub-family B (MDR/TAP)							59	58	58					6																	32813387		1511	2709	4220	SO:0001583	missense	6890				antigen processing and presentation of endogenous peptide antigen via MHC class I|cytosol to ER transport|intracellular transport of viral proteins in host cell|positive regulation of T cell mediated cytotoxicity	cytosol|plasma membrane|TAP complex	ADP binding|ATP binding|MHC class I protein binding|oligopeptide-transporting ATPase activity|peptide antigen binding|protein homodimerization activity|TAP1 binding|TAP2 binding|tapasin binding	g.chr6:32813387A>G		CCDS4758.1	6p21.3	2014-09-17			ENSG00000168394	ENSG00000168394		"ATP binding cassette transporters / subfamily B"	43	protein-coding gene	gene with protein product		170260		ABCB2		1529427, 1946428	Standard	NM_000593		Approved	PSF1, RING4, D6S114E	uc003ocg.3	Q03518	OTTHUMG00000031067	ENST00000354258.4:c.2396T>C	6.37:g.32813387A>G	ENSP00000346206:p.Met799Thr					XXbac-BPG246D15.8_ENST00000453426.1_lincRNA|PSMB9_ENST00000395330.1_Intron|TAP1_ENST00000425148.2_Missense_Mutation_p.M538T	p.M799T	NM_000593.5	NP_000584.2	Q03518	TAP1_HUMAN			11	2557	-			799			ABC transporter.		Q16149|Q96CP4	Missense_Mutation	SNP	ENST00000354258.4	37	c.2396T>C	CCDS4758.1	.	.	.	.	.	.	.	.	.	.	A	12.97	2.097118	0.37048	.	.	ENSG00000168394	ENST00000354258;ENST00000425148	T;T	0.76316	-1.01;-1.01	5.85	5.85	0.93711	ABC transporter-like (1);	0.000000	0.64402	D	0.000015	T	0.66396	0.2785	L	0.38175	1.15	0.40275	D	0.978331	P	0.43314	0.803	P	0.45881	0.496	T	0.74250	-0.3726	10	0.87932	D	0	-19.9923	12.625	0.56623	1.0:0.0:0.0:0.0	.	799	Q03518	TAP1_HUMAN	T	799;538	ENSP00000346206:M799T;ENSP00000401919:M538T	ENSP00000346206:M799T	M	-	2	0	TAP1	32921365	1.000000	0.71417	0.998000	0.56505	0.065000	0.16274	5.005000	0.63972	2.233000	0.73108	0.523000	0.50628	ATG		0.582	TAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076087.2	NM_000593		3	37	0	0	0	1	0	3	37					G	32813387	A	G	32813387	3	3	136	1	0	0	0	0	1	0	0	0	15547	217	8	4	34	4	TAP1	6	32813387	Missense_Mutation	SNP	A	TCGA-EJ-A8FP-01A-21D-A364-08		32813387	138301680	8	6895											
KCNH2	3757	broad.mit.edu	37	chr7	150647430	150647430	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cttggtggcccctcggaaggGtttgcagtgctgcagcagtg	5	10	16	10	1	0	0	0	0	0	0	1	1	0	1	2	4	4	5	2	4	1	2			TCGA-EJ-A8FP-01A-21D-A364-08	TCGA-EJ-A8FP-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac97df1b-05e5-4a00-a8b6-62d758397f3b	2f1be801-cd94-47b5-90b7-e2aea915e66b	g.chr7:150647430G>C	ENST00000262186.5	-	9	2625	c.2224C>G	c.(2224-2226)Ccc>Gcc	p.P742A	KCNH2_ENST00000430723.3_Missense_Mutation_p.P742A|KCNH2_ENST00000392968.2_Missense_Mutation_p.P646A|KCNH2_ENST00000330883.4_Missense_Mutation_p.P402A	NM_000238.3	NP_000229.1	Q12809	KCNH2_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 2	742					cardiac muscle contraction (GO:0060048)|cellular response to drug (GO:0035690)|membrane depolarization during action potential (GO:0086010)|membrane repolarization during action potential (GO:0086011)|membrane repolarization during cardiac muscle cell action potential (GO:0086013)|negative regulation of potassium ion export (GO:1902303)|negative regulation of potassium ion transmembrane transport (GO:1901380)|positive regulation of potassium ion transmembrane transport (GO:1901381)|potassium ion export (GO:0071435)|potassium ion homeostasis (GO:0055075)|potassium ion transmembrane transport (GO:0071805)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of heart rate by hormone (GO:0003064)|regulation of membrane potential (GO:0042391)|regulation of membrane repolarization (GO:0060306)|regulation of potassium ion transmembrane transport (GO:1901379)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|synaptic transmission (GO:0007268)|ventricular cardiac muscle cell action potential (GO:0086005)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|identical protein binding (GO:0042802)|inward rectifier potassium channel activity (GO:0005242)|phosphorelay sensor kinase activity (GO:0000155)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization (GO:1902282)			NS(1)|cervix(1)|endometrium(10)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	42	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Alfuzosin(DB00346)|Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Cisapride(DB00604)|Dofetilide(DB00204)|Doxazosin(DB00590)|Doxepin(DB01142)|Dronedarone(DB04855)|Halofantrine(DB01218)|Ibutilide(DB00308)|Imipramine(DB00458)|Miconazole(DB01110)|Pimozide(DB01100)|Prazosin(DB00457)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terazosin(DB01162)|Thioridazine(DB00679)|Verapamil(DB00661)	CCTCGGAAGGGTTTGCAGTGC	0.652																																					GBM(137;110 1844 13671 20123 45161)	ENST00000392968.2																			0				NS(1)|cervix(1)|endometrium(10)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	42						c.(1936-1938)Ccc>Gcc		potassium voltage-gated channel, subfamily H (eag-related), member 2	Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Cisapride(DB00604)|Dofetilide(DB00204)|Halofantrine(DB01218)|Ibutilide(DB00308)|Pimozide(DB01100)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terfenadine(DB00342)|Verapamil(DB00661)						65	56	59					7																	150647430		2203	4300	6503	SO:0001583	missense	3757				blood circulation|muscle contraction|regulation of heart contraction|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|two-component sensor activity	g.chr7:150647430G>C	U04270	CCDS5910.1, CCDS5911.1	7q36.1	2014-09-17			ENSG00000055118	ENSG00000055118		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6251	protein-coding gene	gene with protein product		152427		LQT2		18616963, 7842012, 8159766, 16382104	Standard	NM_000238		Approved	Kv11.1, HERG, erg1	uc003wic.3	Q12809	OTTHUMG00000158341	ENST00000262186.5:c.2224C>G	7.37:g.150647430G>C	ENSP00000262186:p.Pro742Ala					KCNH2_ENST00000430723.3_Missense_Mutation_p.P742A|KCNH2_ENST00000330883.4_Missense_Mutation_p.P402A|KCNH2_ENST00000262186.5_Missense_Mutation_p.P742A	p.P646A			Q12809	KCNH2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	7	3056	-	all_neural(206;0.219)		742					A5H1P7|C4PFH9|D3DX04|O75418|O75680|Q708S9|Q9BT72|Q9BUT7|Q9H3P0	Missense_Mutation	SNP	ENST00000262186.5	37	c.1936C>G	CCDS5910.1	.	.	.	.	.	.	.	.	.	.	G	3.248	-0.153820	0.06585	.	.	ENSG00000055118	ENST00000330883;ENST00000392968;ENST00000262186;ENST00000430723	D;D;D;D	0.96619	-4.07;-4.07;-4.07;-4.07	4.84	4.84	0.62591	Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);Cyclic nucleotide-binding domain (2);	0.062800	0.64402	D	0.000005	T	0.80025	0.4548	N	0.00064	-2.31	0.49798	D	0.99982	B;B;B;B;B	0.17038	0.02;0.012;0.0;0.004;0.003	B;B;B;B;B	0.12156	0.007;0.006;0.001;0.003;0.004	T	0.82032	-0.0658	10	0.02654	T	1	.	15.4653	0.75394	0.0:0.0:1.0:0.0	.	646;742;402;742;402	C4PFH9;G5E9I0;Q708S9;Q12809;Q12809-2	.;.;.;KCNH2_HUMAN;.	A	402;646;742;742	ENSP00000328531:P402A;ENSP00000376695:P646A;ENSP00000262186:P742A;ENSP00000387657:P742A	ENSP00000262186:P742A	P	-	1	0	KCNH2	150278363	0.986000	0.35501	1.000000	0.80357	0.807000	0.45602	2.210000	0.42816	2.236000	0.73375	0.305000	0.20034	CCC		0.652	KCNH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350741.2	NM_000238		4	87	0	0	0	1	0	4	87					C	150647430	G	C	150647430	3	2	136	1	0	0	0	0	1	0	0	0	8032	1261	44	5	1552	5	KCNH2	7	150647430	Missense_Mutation	SNP	G	TCGA-EJ-A8FP-01A-21D-A364-08		150647430	8491233	9	6896											
PRKG1	5592	broad.mit.edu	37	chr10	54042040	54042040	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	catttcagccgactactggtCactgggaatcctaatgtatg	10	12	9	10	1	2	0	2	0	0	0	3	2	3	1	2	2	2	1	2	2	4	4			TCGA-EJ-A8FP-01A-21D-A364-08	TCGA-EJ-A8FP-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac97df1b-05e5-4a00-a8b6-62d758397f3b	2f1be801-cd94-47b5-90b7-e2aea915e66b	g.chr10:54042040C>T	ENST00000401604.2	+	14	1822	c.1628C>T	c.(1627-1629)tCa>tTa	p.S543L	PRKG1_ENST00000373980.4_Missense_Mutation_p.S558L|PRKG1-AS1_ENST00000426785.2_RNA|PRKG1_ENST00000373985.1_Missense_Mutation_p.S531L|PRKG1_ENST00000373975.2_Missense_Mutation_p.S261L|PRKG1-AS1_ENST00000452247.2_RNA			Q13976	KGP1_HUMAN	protein kinase, cGMP-dependent, type I	543	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				actin cytoskeleton organization (GO:0030036)|blood coagulation (GO:0007596)|cGMP-mediated signaling (GO:0019934)|dendrite development (GO:0016358)|forebrain development (GO:0030900)|negative regulation of platelet aggregation (GO:0090331)|neuron migration (GO:0001764)|protein phosphorylation (GO:0006468)|regulation of GTPase activity (GO:0043087)|relaxation of vascular smooth muscle (GO:0060087)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium channel regulator activity (GO:0005246)|cGMP binding (GO:0030553)|cGMP-dependent protein kinase activity (GO:0004692)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	53		all_cancers(4;2.13e-08)|all_epithelial(4;2.44e-08)|all_lung(4;0.000173)		all cancers(4;1.18e-05)|GBM - Glioblastoma multiforme(4;0.000359)|Epithelial(53;0.00532)|Lung(62;0.0606)		GACTACTGGTCACTGGGAATC	0.453																																						ENST00000373980.4																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	53						c.(1672-1674)tCa>tTa		protein kinase, cGMP-dependent, type I							106	94	98					10																	54042040		2203	4300	6503	SO:0001583	missense	5592				actin cytoskeleton organization|platelet activation|signal transduction	cytosol	ATP binding|cGMP binding|cGMP-dependent protein kinase activity	g.chr10:54042040C>T		CCDS7244.1	10q11.2	2009-07-10			ENSG00000185532	ENSG00000185532	2.7.11.1		9414	protein-coding gene	gene with protein product		176894		PRKGR1B, PRKG1B		2792381, 1544322	Standard	NM_001098512		Approved	PGK, PKG	uc001jjo.3	Q13976	OTTHUMG00000018248	ENST00000401604.2:c.1628C>T	10.37:g.54042040C>T	ENSP00000384200:p.Ser543Leu					PRKG1_ENST00000401604.2_Missense_Mutation_p.S543L|PRKG1_ENST00000373985.1_Missense_Mutation_p.S531L|PRKG1_ENST00000373975.2_Missense_Mutation_p.S261L|PRKG1-AS1_ENST00000452247.2_RNA|PRKG1-AS1_ENST00000426785.2_RNA	p.S558L	NM_006258.3	NP_006249.1	Q13976	KGP1_HUMAN		all cancers(4;1.18e-05)|GBM - Glioblastoma multiforme(4;0.000359)|Epithelial(53;0.00532)|Lung(62;0.0606)	14	2090	+		all_cancers(4;2.13e-08)|all_epithelial(4;2.44e-08)|all_lung(4;0.000173)	543			Protein kinase.		A5YM56|B3KSF3|E2PU10|P14619|Q5JP05|Q5JSJ6|Q6P5T7	Missense_Mutation	SNP	ENST00000401604.2	37	c.1673C>T	CCDS44399.1	.	.	.	.	.	.	.	.	.	.	C	34	5.341967	0.95783	.	.	ENSG00000185532	ENST00000401604;ENST00000373985;ENST00000373980;ENST00000332193;ENST00000373975	T;T;T	0.21361	2.01;2.01;2.01	5.63	5.63	0.86233	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.63768	0.2539	H	0.96720	3.87	0.80722	D	1	D;D;D	0.76494	0.996;0.999;0.999	D;D;D	0.77557	0.959;0.982;0.99	T	0.76231	-0.3035	10	0.87932	D	0	-11.8371	19.6346	0.95724	0.0:1.0:0.0:0.0	.	261;558;543	B3KSF3;Q13976-2;Q13976	.;.;KGP1_HUMAN	L	543;531;558;261;155	ENSP00000384200:S543L;ENSP00000363097:S531L;ENSP00000363092:S558L	ENSP00000327642:S261L	S	+	2	0	PRKG1	53712046	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.770000	0.85390	2.814000	0.96858	0.563000	0.77884	TCA		0.453	PRKG1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				4	68	0	0	0	1	0	4	68					T	54042040	C	T	54042040	3	4	136	1	0	0	0	0	1	0	0	0	12522	838	29	3	1997	3	PRKG1	10	54042040	Missense_Mutation	SNP	C	TCGA-EJ-A8FP-01A-21D-A364-08		54042040	81492707	10	6897											
BBS4	585	broad.mit.edu	37	chr15	73004613	73004613	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caaagaacagcttcaagagaCtcagggattgtgtgaatatg	15	9	11	6	0	2	3	2	1	0	2	2	5	2	4	0	1	2	1	0	1	5	3			TCGA-EJ-A8FP-01A-21D-A364-08	TCGA-EJ-A8FP-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac97df1b-05e5-4a00-a8b6-62d758397f3b	2f1be801-cd94-47b5-90b7-e2aea915e66b	g.chr15:73004613C>A	ENST00000268057.4	+	4	226	c.185C>A	c.(184-186)aCt>aAt	p.T62N	BBS4_ENST00000539603.1_Missense_Mutation_p.T50N|BBS4_ENST00000542334.1_5'UTR|BBS4_ENST00000564239.1_3'UTR|BBS4_ENST00000395205.2_Missense_Mutation_p.T70N	NM_033028.4	NP_149017.2	Q96RK4	BBS4_HUMAN	Bardet-Biedl syndrome 4	62	Required for localization to centrosomes.				adult behavior (GO:0030534)|brain morphogenesis (GO:0048854)|centrosome organization (GO:0051297)|cerebral cortex development (GO:0021987)|cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|convergent extension involved in gastrulation (GO:0060027)|dendrite development (GO:0016358)|fat cell differentiation (GO:0045444)|heart looping (GO:0001947)|hippocampus development (GO:0021766)|intracellular transport (GO:0046907)|maintenance of protein location in nucleus (GO:0051457)|melanosome transport (GO:0032402)|metabolic process (GO:0008152)|microtubule anchoring at centrosome (GO:0034454)|microtubule cytoskeleton organization (GO:0000226)|mitotic cytokinesis (GO:0000281)|negative regulation of appetite by leptin-mediated signaling pathway (GO:0038108)|negative regulation of gene expression (GO:0010629)|negative regulation of systemic arterial blood pressure (GO:0003085)|neural tube closure (GO:0001843)|nonmotile primary cilium assembly (GO:0035058)|photoreceptor cell maintenance (GO:0045494)|pigment granule aggregation in cell center (GO:0051877)|positive regulation of cilium assembly (GO:0045724)|positive regulation of multicellular organism growth (GO:0040018)|protein localization to centrosome (GO:0071539)|protein localization to organelle (GO:0033365)|protein transport (GO:0015031)|regulation of cilium beat frequency involved in ciliary motility (GO:0060296)|regulation of cytokinesis (GO:0032465)|regulation of lipid metabolic process (GO:0019216)|retina homeostasis (GO:0001895)|retinal rod cell development (GO:0046548)|sensory perception of smell (GO:0007608)|sensory processing (GO:0050893)|spermatid development (GO:0007286)|striatum development (GO:0021756)|visual perception (GO:0007601)	BBSome (GO:0034464)|centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|ciliary membrane (GO:0060170)|cilium (GO:0005929)|motile cilium (GO:0031514)|nonmotile primary cilium (GO:0031513)|pericentriolar material (GO:0000242)	alpha-tubulin binding (GO:0043014)|beta-tubulin binding (GO:0048487)|dynactin binding (GO:0034452)|microtubule motor activity (GO:0003777)|RNA polymerase II repressing transcription factor binding (GO:0001103)			autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|prostate(2)|urinary_tract(1)	19						CTTCAAGAGACTCAGGGATTG	0.378									Bardet-Biedl syndrome																													ENST00000268057.4																			0				autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|prostate(2)|urinary_tract(1)	19						c.(184-186)aCt>aAt		Bardet-Biedl syndrome 4							137	121	126					15																	73004613		2198	4297	6495	SO:0001583	missense	585	Bardet-Biedl syndrome	Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome	adult behavior|brain morphogenesis|cell cycle cytokinesis|centrosome organization|cerebral cortex development|convergent extension involved in gastrulation|dendrite development|fat cell differentiation|heart looping|hippocampus development|intracellular transport|maintenance of protein location in nucleus|melanosome transport|microtubule anchoring at centrosome|neural tube closure|nonmotile primary cilium assembly|photoreceptor cell maintenance|pigment granule aggregation in cell center|positive regulation of flagellum assembly|regulation of cilium beat frequency involved in ciliary motility|regulation of cytokinesis|regulation of lipid metabolic process|retina homeostasis|retinal rod cell development|sensory perception of smell|sensory processing|spermatid development|striatum development	BBSome|centriolar satellite|centriole|cilium membrane|microtubule basal body|motile cilium|nonmotile primary cilium|nucleus|pericentriolar material	alpha-tubulin binding|beta-tubulin binding|dynactin binding|microtubule motor activity	g.chr15:73004613C>A	AF090947	CCDS10246.1, CCDS58377.1	15q22.3-q23	2013-01-10			ENSG00000140463	ENSG00000140463		"Tetratricopeptide (TTC) repeat domain containing"	969	protein-coding gene	gene with protein product		600374				7711739, 11381270	Standard	NM_033028		Approved		uc002avb.3	Q96RK4	OTTHUMG00000133510	ENST00000268057.4:c.185C>A	15.37:g.73004613C>A	ENSP00000268057:p.Thr62Asn					BBS4_ENST00000564239.1_3'UTR|BBS4_ENST00000539603.1_Missense_Mutation_p.T50N|BBS4_ENST00000395205.2_Missense_Mutation_p.T70N|BBS4_ENST00000542334.1_5'UTR	p.T62N	NM_033028.4	NP_149017.2	Q96RK4	BBS4_HUMAN			4	226	+			62			Required for localization to centrosomes.		B4E178|Q53DZ5|Q8NHU9|Q96H45	Missense_Mutation	SNP	ENST00000268057.4	37	c.185C>A	CCDS10246.1	.	.	.	.	.	.	.	.	.	.	C	16.89	3.246263	0.59103	.	.	ENSG00000140463	ENST00000268057;ENST00000539603;ENST00000395205	T;T;T	0.72394	-0.65;-0.62;-0.65	5.24	4.31	0.51392	Tetratricopeptide-like helical (1);	0.045717	0.85682	D	0.000000	T	0.69869	0.3159	L	0.53249	1.67	0.80722	D	1	P;D;P	0.59357	0.946;0.985;0.848	B;P;B	0.51999	0.413;0.687;0.374	T	0.69057	-0.5246	10	0.02654	T	1	-15.093	14.5882	0.68344	0.0:0.8525:0.1475:0.0	.	50;70;62	F5H7I8;Q96RK4-2;Q96RK4	.;.;BBS4_HUMAN	N	62;50;70	ENSP00000268057:T62N;ENSP00000442492:T50N;ENSP00000378631:T70N	ENSP00000268057:T62N	T	+	2	0	BBS4	70791666	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	4.836000	0.62789	1.171000	0.42768	0.591000	0.81541	ACT		0.378	BBS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257473.2	NM_033028		3	54	1	0	0.004672	1	0.00511	3	54					A	73004613	C	A	73004613	3	1	136	1	0	0	0	0	1	0	0	0	1339	565	20	5	199	5	BBS4	15	73004613	Missense_Mutation	SNP	C	TCGA-EJ-A8FP-01A-21D-A364-08		73004613	29526779	11	6898											
ZNF207	7756	broad.mit.edu	37	chr17	30685544	30685544	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	acataaagaaacaatagatgCcgtaccaaatgcaatacctg	19	7	6	9	1	0	2	0	0	0	2	0	2	0	2	3	0	5	2	3	0	9	4			TCGA-EJ-A8FP-01A-21D-A364-08	TCGA-EJ-A8FP-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac97df1b-05e5-4a00-a8b6-62d758397f3b	2f1be801-cd94-47b5-90b7-e2aea915e66b	g.chr17:30685544C>T	ENST00000321233.6	+	3	345	c.191C>T	c.(190-192)gCc>gTc	p.A64V	ZNF207_ENST00000577908.1_Missense_Mutation_p.A64V|ZNF207_ENST00000342555.6_Missense_Mutation_p.A67V|ZNF207_ENST00000394670.4_Missense_Mutation_p.A64V|RP11-227G15.3_ENST00000581915.1_RNA|ZNF207_ENST00000394673.2_Missense_Mutation_p.A64V|ZNF207_ENST00000341711.6_Intron	NM_003457.3	NP_003448.1	O43670	ZN207_HUMAN	zinc finger protein 207	64	Microtubule-binding region.				attachment of spindle microtubules to kinetochore (GO:0008608)|mitotic sister chromatid segregation (GO:0000070)|mitotic spindle assembly checkpoint (GO:0007094)|protein stabilization (GO:0050821)|regulation of chromosome segregation (GO:0051983)|regulation of transcription, DNA-templated (GO:0006355)	kinetochore (GO:0000776)|microtubule (GO:0005874)|nucleus (GO:0005634)	DNA binding (GO:0003677)|heparin binding (GO:0008201)|microtubule binding (GO:0008017)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.A64G(1)		breast(1)|endometrium(2)|kidney(2)|lung(3)|urinary_tract(2)	10		Breast(31;0.116)|Ovarian(249;0.182)	BRCA - Breast invasive adenocarcinoma(9;0.239)			ACAATAGATGCCGTACCAAAT	0.323																																						ENST00000394670.4																			1	Substitution - Missense(1)	p.A64G(1)	urinary_tract(1)	breast(1)|endometrium(2)|kidney(2)|lung(3)|urinary_tract(2)	10						c.(190-192)gCc>gTc		zinc finger protein 207							81	82	82					17																	30685544		2203	4300	6503	SO:0001583	missense	7756					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr17:30685544C>T	AF046001	CCDS11271.1, CCDS32614.1, CCDS42294.1	17q11.2	2008-07-10			ENSG00000010244	ENSG00000010244		"Zinc fingers, C2H2-type"	12998	protein-coding gene	gene with protein product		603428				9799612	Standard	NM_001098507		Approved		uc002hhj.4	O43670	OTTHUMG00000132810	ENST00000321233.6:c.191C>T	17.37:g.30685544C>T	ENSP00000322777:p.Ala64Val					ZNF207_ENST00000341711.6_Intron|RP11-227G15.3_ENST00000581915.1_RNA|ZNF207_ENST00000394673.2_Missense_Mutation_p.A64V|ZNF207_ENST00000577908.1_Missense_Mutation_p.A64V|ZNF207_ENST00000321233.6_Missense_Mutation_p.A64V|ZNF207_ENST00000342555.6_Missense_Mutation_p.A67V	p.A64V	NM_001098507.1	NP_001091977.1	O43670	ZN207_HUMAN	BRCA - Breast invasive adenocarcinoma(9;0.239)		3	360	+		Breast(31;0.116)|Ovarian(249;0.182)	64					A8K6Y6|E1P660|E1P661|E1P662|Q53XS9|Q96HW5|Q9BUQ7	Missense_Mutation	SNP	ENST00000321233.6	37	c.191C>T	CCDS11271.1	.	.	.	.	.	.	.	.	.	.	C	15.06	2.720980	0.48728	.	.	ENSG00000010244	ENST00000394670;ENST00000394673;ENST00000394679;ENST00000321233;ENST00000342555	T;T;T	0.42900	0.96;0.96;0.96	4.81	4.81	0.61882	.	0.103913	0.64402	D	0.000003	T	0.43964	0.1271	L	0.54323	1.7	0.80722	D	1	P;P;P;P;P	0.46784	0.782;0.884;0.884;0.728;0.728	B;B;B;B;B	0.42916	0.327;0.402;0.402;0.277;0.277	T	0.41324	-0.9515	10	0.37606	T	0.19	.	18.2267	0.89920	0.0:1.0:0.0:0.0	.	64;67;64;64;64	A8MTG3;Q59G94;E1P660;O43670-2;O43670	.;.;.;.;ZN207_HUMAN	V	64;64;67;64;64	ENSP00000378165:A64V;ENSP00000378168:A64V;ENSP00000322777:A64V	ENSP00000322777:A64V	A	+	2	0	ZNF207	27709657	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.762000	0.68809	2.381000	0.81170	0.650000	0.86243	GCC		0.323	ZNF207-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256251.2			4	76	0	0	0	1	0	4	76					T	30685544	C	T	30685544	3	4	136	1	0	0	0	0	1	0	0	0	17762	739	26	3	201	3	ZNF207	17	30685544	Missense_Mutation	SNP	C	TCGA-EJ-A8FP-01A-21D-A364-08		30685544	50509666	12	6899											
ABHD8	79575	broad.mit.edu	37	chr19	17412031	17412031	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cgctgcctgcgctgccggggGccaagcggccatcgctgccc	3	5	15	18	5	0	0	0	0	0	0	1	0	0	0	5	3	5	3	5	3	1	0			TCGA-EJ-A8FP-01A-21D-A364-08	TCGA-EJ-A8FP-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac97df1b-05e5-4a00-a8b6-62d758397f3b	2f1be801-cd94-47b5-90b7-e2aea915e66b	g.chr19:17412031G>A	ENST00000247706.3	-	2	634	c.395C>T	c.(394-396)gCc>gTc	p.A132V	MRPL34_ENST00000594999.1_5'Flank|MRPL34_ENST00000600434.1_Intron|MRPL34_ENST00000595444.1_Intron	NM_024527.4	NP_078803.4	Q96I13	ABHD8_HUMAN	abhydrolase domain containing 8	132							hydrolase activity (GO:0016787)			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(5)|urinary_tract(1)	9						gctgccgGGGGCCAAGCGGCC	0.726																																					Ovarian(156;1368 2543 15275 41187)	ENST00000247706.3																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|lung(5)|urinary_tract(1)	9						c.(394-396)gCc>gTc		abhydrolase domain containing 8							9	11	10					19																	17412031		1894	3727	5621	SO:0001583	missense	79575						hydrolase activity	g.chr19:17412031G>A	AK021805	CCDS12355.1	19p13.12	2010-12-09			ENSG00000127220	ENSG00000127220		"Abhydrolase domain containing"	23759	protein-coding gene	gene with protein product						12477932	Standard	NM_024527		Approved	FLJ11743, MGC14280, MGC2512	uc002ngb.4	Q96I13		ENST00000247706.3:c.395C>T	19.37:g.17412031G>A	ENSP00000247706:p.Ala132Val					MRPL34_ENST00000595444.1_Intron|MRPL34_ENST00000600434.1_Intron	p.A132V	NM_024527.4	NP_078803.4	Q96I13	ABHD8_HUMAN			2	634	-			132					Q9HAE9	Missense_Mutation	SNP	ENST00000247706.3	37	c.395C>T	CCDS12355.1	.	.	.	.	.	.	.	.	.	.	G	4.772	0.143592	0.09134	.	.	ENSG00000127220	ENST00000247706;ENST00000544788	T	0.30714	1.52	5.33	-1.59	0.08453	.	0.950455	0.08804	N	0.891310	T	0.11239	0.0274	N	0.03608	-0.345	0.09310	N	1	B	0.06786	0.001	B	0.09377	0.004	T	0.26780	-1.0093	10	0.28530	T	0.3	-0.1383	3.7919	0.08724	0.141:0.302:0.4451:0.1119	.	132	Q96I13	ABHD8_HUMAN	V	132;78	ENSP00000247706:A132V	ENSP00000247706:A132V	A	-	2	0	ABHD8	17273031	0.001000	0.12720	0.000000	0.03702	0.019000	0.09904	-0.057000	0.11768	-0.530000	0.06349	-0.311000	0.09066	GCC		0.726	ABHD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462937.1	NM_024527		3	42	0	0	0	1	0	3	42					A	17412031	G	A	17412031	3	1	136	1	0	0	0	0	1	0	0	0	87	1203	42	3	940	3	ABHD8	19	17412031	Missense_Mutation	SNP	G	TCGA-EJ-A8FP-01A-21D-A364-08		17412031	41716952	13	6900											
PPP1R16B	26051	broad.mit.edu	37	chr20	37536550	37536550	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcacaagtcatccttgagcCggaggacctccagcgcaggc	9	5	13	14	2	1	1	1	1	0	0	3	3	3	3	4	4	2	2	4	4	1	1			TCGA-EJ-A8FP-01A-21D-A364-08	TCGA-EJ-A8FP-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac97df1b-05e5-4a00-a8b6-62d758397f3b	2f1be801-cd94-47b5-90b7-e2aea915e66b	g.chr20:37536550C>T	ENST00000299824.1	+	9	1189	c.1000C>T	c.(1000-1002)Cgg>Tgg	p.R334W	PPP1R16B_ENST00000373331.2_Missense_Mutation_p.R292W	NM_015568.2	NP_056383.1	Q96T49	PP16B_HUMAN	protein phosphatase 1, regulatory subunit 16B	334					regulation of filopodium assembly (GO:0051489)|signal transduction (GO:0007165)	nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein phosphatase binding (GO:0019903)			biliary_tract(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(23)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	49		Myeloproliferative disorder(115;0.00878)				ATCCTTGAGCCGGAGGACCTC	0.607																																						ENST00000299824.1																			0				biliary_tract(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(23)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	49						c.(1000-1002)Cgg>Tgg		protein phosphatase 1, regulatory subunit 16B							54	51	52					20																	37536550		2203	4300	6503	SO:0001583	missense	26051				regulation of filopodium assembly|signal transduction	nucleus|plasma membrane	protein phosphatase binding	g.chr20:37536550C>T	AB020630	CCDS13309.1, CCDS54462.1	20q11.23	2013-01-10	2011-10-04		ENSG00000101445	ENSG00000101445		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "Ankyrin repeat domain containing"	15850	protein-coding gene	gene with protein product	"TGF-beta-inhibited membrane-associated protein", "ankyrin repeat domain protein 4"	613275	"protein phosphatase 1, regulatory (inhibitor) subunit 16B"			10048485, 12055102	Standard	NM_001172735		Approved	KIAA0823, TIMAP, ANKRD4	uc002xje.3	Q96T49	OTTHUMG00000032465	ENST00000299824.1:c.1000C>T	20.37:g.37536550C>T	ENSP00000299824:p.Arg334Trp					PPP1R16B_ENST00000373331.2_Missense_Mutation_p.R292W	p.R334W	NM_015568.2	NP_056383.1	Q96T49	PP16B_HUMAN			9	1189	+		Myeloproliferative disorder(115;0.00878)	334					A2RRR6|E9PFS8|O94912|Q5W9G4|Q9NQG4	Missense_Mutation	SNP	ENST00000299824.1	37	c.1000C>T	CCDS13309.1	.	.	.	.	.	.	.	.	.	.	C	18.91	3.724390	0.68959	.	.	ENSG00000101445	ENST00000299824;ENST00000373331	T;T	0.80304	-0.55;-1.36	5.02	4.07	0.47477	.	0.071774	0.64402	D	0.000009	D	0.86847	0.6031	L	0.54323	1.7	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.78314	0.991;0.991	D	0.88319	0.2961	10	0.87932	D	0	.	14.9629	0.71169	0.1438:0.8562:0.0:0.0	.	292;334	E9PFS8;Q96T49	.;PP16B_HUMAN	W	334;292	ENSP00000299824:R334W;ENSP00000362428:R292W	ENSP00000299824:R334W	R	+	1	2	PPP1R16B	36969964	0.990000	0.36364	1.000000	0.80357	0.908000	0.53690	1.136000	0.31467	1.339000	0.45563	0.644000	0.83932	CGG		0.607	PPP1R16B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079220.2	NM_015568		4	47	0	0	0	1	0	4	47					T	37536550	C	T	37536550	3	4	136	1	0	0	0	0	1	0	0	0	12366	643	23	2	1030	2	PPP1R16B	20	37536550	Missense_Mutation	SNP	C	TCGA-EJ-A8FP-01A-21D-A364-08		37536550	25488970	14	6901											
UBXN11	91544	broad.mit.edu	37	chr1	26608892	26608892	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctggggccgggaccgggaccGggacagggaccaggactgaa	9	2	19	11	3	0	1	0	1	0	0	0	6	0	6	4	7	0	0	4	7	1	0	rs367932248|rs200210107		TCGA-EJ-A8FS-01A-11D-A34U-08	TCGA-EJ-A8FS-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d86eaa-de07-46a6-aa08-8906f255ae65	e3c8391f-2734-44a4-b1d4-729d7637f6d6	g.chr1:26608892G>A	ENST00000374222.1	-	16	1925	c.1461C>T	c.(1459-1461)ccC>ccT	p.P487P	UBXN11_ENST00000314675.7_Silent_p.P367P|UBXN11_ENST00000374217.2_Silent_p.P454P|UBXN11_ENST00000374221.3_Silent_p.P487P|UBXN11_ENST00000357089.4_Silent_p.P454P|UBXN11_ENST00000374223.1_Silent_p.P244P			Q5T124	UBX11_HUMAN	UBX domain protein 11	487	3 X 8 AA tandem repeats of P-G-P-G-P-G-P- S.|Pro-rich.		Missing. {ECO:0000269|PubMed:14702039, ECO:0000269|Ref.2}.			cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(3)	23						gaccgggaccgggacagggac	0.716													G|||	1	0.000199681	0	0	5008	,	,		11883	0		0.001	False		,,,				2504	0					ENST00000314675.7																			0				endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(3)	23						c.(1099-1101)ccC>ccT		UBX domain protein 11		G	,,	1,3703		0,1,1851	49	60	56		1101,1362,1461	0.6	0	1		56	4,8126		0,4,4061	no	coding-synonymous,coding-synonymous,coding-synonymous	UBXN11	NM_001077262.1,NM_145345.2,NM_183008.2	,,	0,5,5912	AA,AG,GG		0.0492,0.027,0.0423	,,	367/401,454/488,487/521	26608892	5,11829	1852	4065	5917	SO:0001819	synonymous_variant	91544					cytoplasm|cytoskeleton		g.chr1:26608892G>A	AF521017	CCDS41286.1, CCDS41287.1, CCDS41288.1	1p36.11	2008-07-25	2008-07-25	2008-07-25	ENSG00000158062	ENSG00000158062		"UBX domain containing"	30600	protein-coding gene	gene with protein product	"socius"	609151	"UBX domain containing 5"	UBXD5		11940653	Standard	NM_183008		Approved	SOC, SOCI	uc001blw.3	Q5T124	OTTHUMG00000003382	ENST00000374222.1:c.1461C>T	1.37:g.26608892G>A						UBXN11_ENST00000374217.2_Silent_p.P454P|UBXN11_ENST00000374223.1_Silent_p.P244P|UBXN11_ENST00000357089.4_Silent_p.P454P|UBXN11_ENST00000374222.1_Silent_p.P487P|UBXN11_ENST00000374221.3_Silent_p.P487P	p.P367P	NM_001077262.1	NP_001070730.1	Q5T124	UBX11_HUMAN			11	1180	-			487					D3DPK6|Q5T117|Q5T120|Q5T125|Q5T126|Q5T129|Q5T131|Q5T133|Q63HM6|Q71RB3|Q8IY27|Q8N1L6|Q8N9M4|Q8NA18|Q8NFE3|Q8NFE4|Q8NFE6	Silent	SNP	ENST00000374222.1	37	c.1101C>T	CCDS41288.1																																																																																				0.716	UBXN11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000009500.1	NM_145345		3	32	0	0	0	1	0	3	32					A	26608892	G	A	26608892	2	1	137	1	0	0	0	0	0	0	0	1	16910	1103	39	2		2	UBXN11	1	26608892	Silent	SNP	G	TCGA-EJ-A8FS-01A-11D-A34U-08		26608892	222641729	1	6902											
ASH1L	55870	broad.mit.edu	37	chr1	155429593	155429593	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acaaatagcactagcctgttGaagaagtactctcagatgaa	16	9	8	8	0	1	4	1	2	1	2	2	4	1	4	1	0	3	3	1	0	7	4			TCGA-EJ-A8FS-01A-11D-A34U-08	TCGA-EJ-A8FS-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d86eaa-de07-46a6-aa08-8906f255ae65	e3c8391f-2734-44a4-b1d4-729d7637f6d6	g.chr1:155429593G>C	ENST00000368346.3	-	4	5720	c.5081C>G	c.(5080-5082)tCa>tGa	p.S1694*	ASH1L_ENST00000392403.3_Nonsense_Mutation_p.S1694*			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	1694	Ser-rich.				cell-cell signaling (GO:0007267)|DNA packaging (GO:0006323)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|tight junction (GO:0005923)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			CTAGCCTGTTGAAGAAGTACT	0.423																																						ENST00000368346.3																			0				autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124						c.(5080-5082)tCa>tGa		ash1 (absent, small, or homeotic)-like (Drosophila)							76	73	74					1																	155429593		2203	4300	6503	SO:0001587	stop_gained	55870				cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|Golgi apparatus|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding	g.chr1:155429593G>C	AB037841	CCDS1113.2	1q22	2013-01-28			ENSG00000116539	ENSG00000116539		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	19088	protein-coding gene	gene with protein product		607999				10860993, 16545939	Standard	NM_018489		Approved	huASH1, ASH1, ASH1L1, KMT2H	uc001fkt.3	Q9NR48	OTTHUMG00000014011	ENST00000368346.3:c.5081C>G	1.37:g.155429593G>C	ENSP00000357330:p.Ser1694*					ASH1L_ENST00000392403.3_Nonsense_Mutation_p.S1694*	p.S1694*			Q9NR48	ASH1L_HUMAN	Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)		4	5720	-	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		1694			Ser-rich.		Q59GP1|Q5T714|Q5T715|Q9P2C7	Nonsense_Mutation	SNP	ENST00000368346.3	37	c.5081C>G		.	.	.	.	.	.	.	.	.	.	G	49	15.387945	0.99832	.	.	ENSG00000116539	ENST00000368346;ENST00000392403	.	.	.	4.19	4.19	0.49359	.	0.503837	0.19787	N	0.106094	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	.	14.4894	0.67639	0.0:0.0:1.0:0.0	.	.	.	.	X	1694	.	ENSP00000357330:S1694X	S	-	2	0	ASH1L	153696217	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.344000	0.65981	2.175000	0.68902	0.591000	0.81541	TCA		0.423	ASH1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000039400.1	NM_018489		7	16	0	0	0	1	0	7	16					C	155429593	G	C	155429593	4	2	137	1	0	0	0	0	0	1	0	0	1041	1294	45	5	3913	5	ASH1L	1	155429593	Nonsense_Mutation	SNP	G	TCGA-EJ-A8FS-01A-11D-A34U-08	128820701	155429593	93821028	2	6903											
SMG7	9887	broad.mit.edu	37	chr1	183514379	183514379	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttcaagctctaactcagcaaCaacaatcccctacaaaagct	16	8	3	14	0	3	0	2	0	1	0	4	0	4	0	2	0	7	3	2	0	8	3			TCGA-EJ-A8FS-01A-11D-A34U-08	TCGA-EJ-A8FS-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d86eaa-de07-46a6-aa08-8906f255ae65	e3c8391f-2734-44a4-b1d4-729d7637f6d6	g.chr1:183514379C>T	ENST00000347615.2	+	16	2421	c.2302C>T	c.(2302-2304)Caa>Taa	p.Q768*	SMG7_ENST00000367537.3_Nonsense_Mutation_p.Q751*|SMG7_ENST00000508461.1_Nonsense_Mutation_p.Q726*|SMG7_ENST00000456731.2_Nonsense_Mutation_p.Q680*|SMG7_ENST00000515829.2_Nonsense_Mutation_p.Q722*|SMG7_ENST00000507469.1_Nonsense_Mutation_p.Q722*	NM_173156.2	NP_775179.1	Q92540	SMG7_HUMAN	SMG7 nonsense mediated mRNA decay factor	768	Gln/Pro-rich.				gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of dephosphorylation (GO:0035303)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)	protein phosphatase 2A binding (GO:0051721)			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(16)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						AACTCAGCAACAACAATCCCC	0.512																																						ENST00000367537.3																			0				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(16)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						c.(2251-2253)Caa>Taa		SMG7 nonsense mediated mRNA decay factor							127	133	131					1																	183514379		2203	4300	6503	SO:0001587	stop_gained	9887				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation	cytoplasm|intermediate filament cytoskeleton|nucleus	protein phosphatase 2A binding	g.chr1:183514379C>T	D87437	CCDS1355.1, CCDS41445.1, CCDS41445.2, CCDS53444.1, CCDS53445.1	1q25	2013-07-02	2013-07-02	2006-02-16	ENSG00000116698	ENSG00000116698			16792	protein-coding gene	gene with protein product	"EST1 telomerase component homolog C (S. cerevisiae)"	610964	"chromosome 1 open reading frame 16", "smg-7 homolog, nonsense mediated mRNA decay factor (C. elegans)"	C1orf16		14636577, 15721257	Standard	NM_173156		Approved	KIAA0250, EST1C, SGA56M, SMG-7	uc001gqf.3	Q92540	OTTHUMG00000035221	ENST00000347615.2:c.2302C>T	1.37:g.183514379C>T	ENSP00000340766:p.Gln768*					SMG7_ENST00000515829.2_Nonsense_Mutation_p.Q722*|SMG7_ENST00000507469.1_Nonsense_Mutation_p.Q722*|SMG7_ENST00000508461.1_Nonsense_Mutation_p.Q726*|SMG7_ENST00000456731.2_Nonsense_Mutation_p.Q680*|SMG7_ENST00000347615.2_Nonsense_Mutation_p.Q768*	p.Q751*			Q92540	SMG7_HUMAN			17	2446	+			768			Gln/Pro-rich.		B4DRB2|E9PCI0|E9PEH2|Q5T1Q0|Q6PIE0|Q7Z7H9|Q8IXC1|Q8IXC2	Nonsense_Mutation	SNP	ENST00000347615.2	37	c.2251C>T	CCDS1355.1	.	.	.	.	.	.	.	.	.	.	C	38	6.867259	0.97897	.	.	ENSG00000116698	ENST00000456731;ENST00000367537;ENST00000508461;ENST00000419169;ENST00000347615;ENST00000507469;ENST00000515829	.	.	.	5.69	5.69	0.88448	.	0.260319	0.38164	N	0.001787	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.12103	T	0.63	-10.4124	19.8045	0.96525	0.0:1.0:0.0:0.0	.	.	.	.	X	680;751;726;680;768;722;722	.	ENSP00000340766:Q768X	Q	+	1	0	SMG7	181781002	1.000000	0.71417	0.951000	0.38953	0.808000	0.45660	6.348000	0.73009	2.676000	0.91093	0.655000	0.94253	CAA		0.512	SMG7-002	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000085432.1	NM_014837		4	74	0	0	0	1	0	4	74					T	183514379	C	T	183514379	4	4	137	1	0	0	0	0	0	1	0	0	14798	479	17	3	2364	3	SMG7	1	183514379	Nonsense_Mutation	SNP	C	TCGA-EJ-A8FS-01A-11D-A34U-08	28084786	183514379	65736242	3	6904											
LRRN2	10446	broad.mit.edu	37	chr1	204589109	204589109	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gctagcaagagtggggccacGagaagcctcatggtggagct	10	6	16	9	1	1	2	1	0	0	2	1	4	1	3	2	4	3	3	2	4	3	1			TCGA-EJ-A8FS-01A-11D-A34U-08	TCGA-EJ-A8FS-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d86eaa-de07-46a6-aa08-8906f255ae65	e3c8391f-2734-44a4-b1d4-729d7637f6d6	g.chr1:204589109G>A	ENST00000367175.1	-	1	2224	c.12C>T	c.(10-12)ctC>ctT	p.L4L	LRRN2_ENST00000367177.3_Silent_p.L4L|LRRN2_ENST00000367176.3_Silent_p.L4L|LRRN2_ENST00000496057.1_5'UTR			O75325	LRRN2_HUMAN	leucine rich repeat neuronal 2	4					cell adhesion (GO:0007155)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|liver(1)|lung(22)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	38	all_cancers(21;0.0519)|Breast(84;0.112)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)			GTGGGGCCACGAGAAGCCTCA	0.617																																						ENST00000367175.1																			0				central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|liver(1)|lung(22)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	38						c.(10-12)ctC>ctT		leucine rich repeat neuronal 2							13	14	14					1																	204589109		2181	4282	6463	SO:0001819	synonymous_variant	10446				cell adhesion	integral to membrane	receptor activity	g.chr1:204589109G>A	AF030435	CCDS1448.1	1q32.1	2013-01-11	2007-01-31	2007-01-31	ENSG00000170382	ENSG00000170382		"Immunoglobulin superfamily / I-set domain containing"	16914	protein-coding gene	gene with protein product	"leucine rich and ankyrin repeats 1", "fibronectin type III, immunoglobulin and leucine rich repeat domain 7"	605492	"leucine rich repeat neuronal 5"	LRRN5		9662332	Standard	NM_006338		Approved	GAC1, LRANK1, FIGLER7	uc001hbf.1	O75325	OTTHUMG00000035989	ENST00000367175.1:c.12C>T	1.37:g.204589109G>A						LRRN2_ENST00000496057.1_5'UTR|LRRN2_ENST00000367176.3_Silent_p.L4L|LRRN2_ENST00000367177.3_Silent_p.L4L	p.L4L			O75325	LRRN2_HUMAN	KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)		1	2224	-	all_cancers(21;0.0519)|Breast(84;0.112)|Prostate(682;0.19)		4					B2R624|Q5T0Y0|Q6UXM0|Q8N182	Silent	SNP	ENST00000367175.1	37	c.12C>T	CCDS1448.1																																																																																				0.617	LRRN2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089894.1	NM_006338		3	5	0	0	0	1	0	3	5					A	204589109	G	A	204589109	2	1	137	1	0	0	0	0	0	0	0	1	9035	1045	37	2		2	LRRN2	1	204589109	Silent	SNP	G	TCGA-EJ-A8FS-01A-11D-A34U-08	21074730	204589109	44661512	4	6905											
NUP133	55746	broad.mit.edu	37	chr1	229580721	229580721	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gtctttagatacttcaattgGatcatctttgccatcagaac	11	15	6	9	0	5	2	3	0	2	2	5	3	5	3	1	1	3	0	1	1	4	6			TCGA-EJ-A8FS-01A-11D-A34U-08	TCGA-EJ-A8FS-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d86eaa-de07-46a6-aa08-8906f255ae65	e3c8391f-2734-44a4-b1d4-729d7637f6d6	g.chr1:229580721G>A	ENST00000261396.3	-	25	3365	c.3274C>T	c.(3274-3276)Cca>Tca	p.P1092S	NUP133_ENST00000537506.1_Missense_Mutation_p.P1076S	NM_018230.2	NP_060700.2	Q8WUM0	NU133_HUMAN	nucleoporin 133kDa	1092					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA export from nucleus (GO:0006406)|nuclear pore organization (GO:0006999)|paraxial mesoderm development (GO:0048339)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)|nuclear pore outer ring (GO:0031080)	nucleocytoplasmic transporter activity (GO:0005487)			NS(1)|breast(7)|endometrium(1)|kidney(6)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(4)	56	Breast(184;0.104)|Ovarian(103;0.249)	Prostate(94;0.167)				ACTTCAATTGGATCATCTTTG	0.318																																						ENST00000261396.3																			0				NS(1)|breast(7)|endometrium(1)|kidney(6)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(4)	56						c.(3274-3276)Cca>Tca		nucleoporin 133kDa							129	140	136					1																	229580721		2203	4300	6503	SO:0001583	missense	55746				carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|nuclear pore organization|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex	nucleocytoplasmic transporter activity|protein binding	g.chr1:229580721G>A		CCDS1579.1	1q42.13	2008-02-05	2002-08-29		ENSG00000069248	ENSG00000069248			18016	protein-coding gene	gene with protein product		607613	"nucleoporin 133kD"			11684705	Standard	NM_018230		Approved	FLJ10814	uc001htn.3	Q8WUM0	OTTHUMG00000039462	ENST00000261396.3:c.3274C>T	1.37:g.229580721G>A	ENSP00000261396:p.Pro1092Ser					NUP133_ENST00000537506.1_Missense_Mutation_p.P1076S|NUP133_ENST00000366679.1_Missense_Mutation_p.P1021S	p.P1092S	NM_018230.2	NP_060700.2	Q8WUM0	NU133_HUMAN			25	3365	-	Breast(184;0.104)|Ovarian(103;0.249)	Prostate(94;0.167)	1092					B2RAZ8|Q5T8N0|Q9H9W2|Q9NV71|Q9NVC4	Missense_Mutation	SNP	ENST00000261396.3	37	c.3274C>T	CCDS1579.1	.	.	.	.	.	.	.	.	.	.	G	23.3	4.396842	0.83120	.	.	ENSG00000069248	ENST00000366681;ENST00000261396;ENST00000366679;ENST00000537506	T;T;T	0.36157	1.27;1.35;1.29	5.79	5.79	0.91817	Nucleoporin, Nup133/Nup155-like, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.57007	0.2024	M	0.72894	2.215	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	T	0.50363	-0.8837	10	0.08381	T	0.77	-1.992	18.204	0.89848	0.0:0.0:1.0:0.0	.	1092	Q8WUM0	NU133_HUMAN	S	1021;1092;1021;1076	ENSP00000261396:P1092S;ENSP00000355640:P1021S;ENSP00000443496:P1076S	ENSP00000261396:P1092S	P	-	1	0	NUP133	227647344	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.659000	0.91116	2.727000	0.93392	0.563000	0.77884	CCA		0.318	NUP133-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095224.1	NM_018230		31	98	0	0	0	1	0	31	98					A	229580721	G	A	229580721	3	1	137	1	0	0	0	0	1	0	0	0	10754	1174	41	3	204	3	NUP133	1	229580721	Missense_Mutation	SNP	G	TCGA-EJ-A8FS-01A-11D-A34U-08	24991612	229580721	19669900	5	6906											
OTX1	5013	broad.mit.edu	37	chr2	63282953	63282953	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgccaggctcagcgcccgcGtccgtgtcggtgccggagcc	3	6	15	17	7	1	0	1	0	0	0	4	1	2	1	5	3	3	1	5	3	0	0			TCGA-EJ-A8FS-01A-11D-A34U-08	TCGA-EJ-A8FS-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d86eaa-de07-46a6-aa08-8906f255ae65	e3c8391f-2734-44a4-b1d4-729d7637f6d6	g.chr2:63282953G>A	ENST00000282549.2	+	5	843	c.567G>A	c.(565-567)gcG>gcA	p.A189A	OTX1_ENST00000366671.3_Silent_p.A189A	NM_014562.3	NP_055377.1	P32242	OTX1_HUMAN	orthodenticle homeobox 1	189					anterior/posterior pattern specification (GO:0009952)|diencephalon morphogenesis (GO:0048852)|inner ear morphogenesis (GO:0042472)|metencephalon development (GO:0022037)|midbrain development (GO:0030901)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|pancreas(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	20	Lung NSC(7;0.121)|all_lung(7;0.211)					CAGCGCCCGCGTCCGTGTCGG	0.682																																						ENST00000282549.2																			0				endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|pancreas(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	20						c.(565-567)gcG>gcA		orthodenticle homeobox 1							13	15	14					2																	63282953		2190	4285	6475	SO:0001819	synonymous_variant	5013					nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:63282953G>A		CCDS1873.1	2p15	2011-06-20	2007-02-15		ENSG00000115507	ENSG00000115507		"Homeoboxes / PRD class"	8521	protein-coding gene	gene with protein product		600036	"orthodenticle (Drosophila) homolog 1", "orthodenticle homolog 1 (Drosophila)"			7959790	Standard	NM_001199770		Approved		uc002scd.3	P32242	OTTHUMG00000129454	ENST00000282549.2:c.567G>A	2.37:g.63282953G>A						OTX1_ENST00000366671.3_Silent_p.A189A	p.A189A	NM_014562.3	NP_055377.1	P32242	OTX1_HUMAN			5	843	+	Lung NSC(7;0.121)|all_lung(7;0.211)		189					A6NHA2|B3KTJ4|Q53TG6	Silent	SNP	ENST00000282549.2	37	c.567G>A	CCDS1873.1																																																																																				0.682	OTX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251617.1			7	11	0	0	0	1	0	7	11					A	63282953	G	A	63282953	2	1	137	1	0	0	0	0	0	0	0	1	11320	1132	40	1		1	OTX1	2	63282953	Silent	SNP	G	TCGA-EJ-A8FS-01A-11D-A34U-08		63282953	179916420	6	6907											
MARCO	8685	broad.mit.edu	37	chr2	119727707	119727707	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagttctgaatctgcaggcgCggctccgggtcctggagatg	6	9	15	11	3	2	2	0	1	2	1	4	3	4	2	2	4	1	3	2	4	1	1	rs377491060		TCGA-EJ-A8FS-01A-11D-A34U-08	TCGA-EJ-A8FS-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d86eaa-de07-46a6-aa08-8906f255ae65	e3c8391f-2734-44a4-b1d4-729d7637f6d6	g.chr2:119727707C>T	ENST00000327097.4	+	3	352	c.217C>T	c.(217-219)Cgg>Tgg	p.R73W	MARCO_ENST00000541757.1_5'UTR	NM_006770.3	NP_006761.1	Q9UEW3	MARCO_HUMAN	macrophage receptor with collagenous structure	73					apoptotic cell clearance (GO:0043277)|cell surface receptor signaling pathway (GO:0007166)|innate immune response (GO:0045087)|pattern recognition receptor signaling pathway (GO:0002221)	collagen trimer (GO:0005581)|endocytic vesicle membrane (GO:0030666)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)|signaling pattern recognition receptor activity (GO:0008329)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(12)|lung(37)|ovary(4)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	70						TCTGCAGGCGCGGCTCCGGGT	0.547																																					GBM(8;18 374 7467 11269 32796)	ENST00000327097.4																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(12)|lung(37)|ovary(4)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	70						c.(217-219)Cgg>Tgg		macrophage receptor with collagenous structure		C	TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	66	75	72		217	3.5	1	2		72	0,8600		0,0,4300	no	missense	MARCO	NM_006770.3	101	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	73/521	119727707	1,13005	2203	4300	6503	SO:0001583	missense	8685				cell surface receptor linked signaling pathway|innate immune response	collagen|integral to plasma membrane	pattern recognition receptor activity|scavenger receptor activity	g.chr2:119727707C>T	AF035819	CCDS2124.1	2q14.2	2011-10-11			ENSG00000019169	ENSG00000019169			6895	protein-coding gene	gene with protein product	"scavenger receptor class A, member 2"	604870				9468508, 7867067, 10331948	Standard	NM_006770		Approved	SCARA2	uc002tln.1	Q9UEW3	OTTHUMG00000131400	ENST00000327097.4:c.217C>T	2.37:g.119727707C>T	ENSP00000318916:p.Arg73Trp					MARCO_ENST00000541757.1_5'UTR	p.R73W	NM_006770.3	NP_006761.1	Q9UEW3	MARCO_HUMAN			3	352	+			73					B4DW79|Q9Y5S3	Missense_Mutation	SNP	ENST00000327097.4	37	c.217C>T	CCDS2124.1	.	.	.	.	.	.	.	.	.	.	C	11.23	1.578018	0.28180	2.27E-4	0.0	ENSG00000019169	ENST00000327097;ENST00000410021	D	0.90955	-2.76	4.43	3.53	0.40419	.	0.593254	0.15121	N	0.279406	D	0.90099	0.6907	L	0.27053	0.805	0.80722	D	1	D	0.89917	1.0	D	0.67548	0.952	D	0.86873	0.2037	9	.	.	.	.	9.7722	0.40595	0.2052:0.7948:0.0:0.0	.	73	Q9UEW3	MARCO_HUMAN	W	73	ENSP00000318916:R73W	.	R	+	1	2	MARCO	119444177	0.733000	0.28132	0.998000	0.56505	0.824000	0.46624	0.892000	0.28322	1.425000	0.47237	0.561000	0.74099	CGG		0.547	MARCO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254190.2	NM_006770		17	37	0	0	0	1	0	17	37					T	119727707	C	T	119727707	3	4	137	1	0	0	0	0	1	0	0	0	9311	759	27	1	227	1	MARCO	2	119727707	Missense_Mutation	SNP	C	TCGA-EJ-A8FS-01A-11D-A34U-08	56444754	119727707	123471666	7	6908											
MLPH	79083	broad.mit.edu	37	chr2	238402143	238402143	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttggaagttgttcaacgagAttttgacctccgaaggaaag	12	11	11	7	2	1	2	1	1	0	1	2	6	2	4	2	2	1	2	2	2	4	5			TCGA-EJ-A8FS-01A-11D-A34U-08	TCGA-EJ-A8FS-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d86eaa-de07-46a6-aa08-8906f255ae65	e3c8391f-2734-44a4-b1d4-729d7637f6d6	g.chr2:238402143A>T	ENST00000264605.3	+	2	368	c.74A>T	c.(73-75)gAt>gTt	p.D25V	MLPH_ENST00000409373.1_Missense_Mutation_p.D25V|MLPH_ENST00000338530.4_Missense_Mutation_p.D25V|MLPH_ENST00000468178.1_3'UTR|MLPH_ENST00000445024.2_Missense_Mutation_p.D25V|MLPH_ENST00000410032.1_Missense_Mutation_p.D25V	NM_024101.5	NP_077006.1	Q9BV36	MELPH_HUMAN	melanophilin	25	RabBD. {ECO:0000255|PROSITE- ProRule:PRU00234}.				melanocyte differentiation (GO:0030318)|melanosome localization (GO:0032400)|protein targeting (GO:0006605)	cortical actin cytoskeleton (GO:0030864)|extracellular vesicular exosome (GO:0070062)|microtubule organizing center (GO:0005815)|microtubule plus-end (GO:0035371)|stress fiber (GO:0001725)	metal ion binding (GO:0046872)			NS(1)|breast(3)|cervix(1)|endometrium(3)|large_intestine(2)|lung(11)|ovary(1)|stomach(2)|upper_aerodigestive_tract(1)	25		Breast(86;0.000381)|Renal(207;0.000966)|Ovarian(221;0.0695)|all_hematologic(139;0.095)|all_lung(227;0.17)|Melanoma(123;0.203)		Epithelial(121;1.17e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.02e-10)|Kidney(56;4.23e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.15e-07)|BRCA - Breast invasive adenocarcinoma(100;0.000439)|Lung(119;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0316)		GTTCAACGAGATTTTGACCTC	0.542																																						ENST00000264605.3																			0				NS(1)|breast(3)|cervix(1)|endometrium(3)|large_intestine(2)|lung(11)|ovary(1)|stomach(2)|upper_aerodigestive_tract(1)	25						c.(73-75)gAt>gTt		melanophilin							163	158	160					2																	238402143		2203	4300	6503	SO:0001583	missense	79083						metal ion binding	g.chr2:238402143A>T	AY358857	CCDS2518.1, CCDS42836.1, CCDS63172.1, CCDS63173.1	2q37.2	2014-09-17			ENSG00000115648	ENSG00000115648			29643	protein-coding gene	gene with protein product		606526				11980908, 11504925	Standard	NM_024101		Approved	l1Rk3, l(1)-3Rk, Slac-2a, ln, exophilin-3	uc002vwt.3	Q9BV36	OTTHUMG00000133298	ENST00000264605.3:c.74A>T	2.37:g.238402143A>T	ENSP00000264605:p.Asp25Val					MLPH_ENST00000409373.1_Missense_Mutation_p.D25V|MLPH_ENST00000468178.1_3'UTR|MLPH_ENST00000410032.1_Missense_Mutation_p.D25V|MLPH_ENST00000445024.2_Missense_Mutation_p.D25V|MLPH_ENST00000338530.4_Missense_Mutation_p.D25V	p.D25V	NM_024101.5	NP_077006.1	Q9BV36	MELPH_HUMAN		Epithelial(121;1.17e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.02e-10)|Kidney(56;4.23e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.15e-07)|BRCA - Breast invasive adenocarcinoma(100;0.000439)|Lung(119;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0316)	2	368	+		Breast(86;0.000381)|Renal(207;0.000966)|Ovarian(221;0.0695)|all_hematologic(139;0.095)|all_lung(227;0.17)|Melanoma(123;0.203)	25			RabBD.		B3KSS2|B4DKW7|G5E9G5|Q9HA71	Missense_Mutation	SNP	ENST00000264605.3	37	c.74A>T	CCDS2518.1	.	.	.	.	.	.	.	.	.	.	A	19.38	3.817438	0.70912	.	.	ENSG00000115648	ENST00000422695;ENST00000429898;ENST00000410032;ENST00000264605;ENST00000445024;ENST00000338530;ENST00000409373	T;T;T;T;T;T;T	0.80214	-1.35;-1.35;-1.35;-1.35;-1.35;-1.35;-1.35	5.05	5.05	0.67936	Zinc finger, RING/FYVE/PHD-type (1);Rab-binding domain (1);Zinc finger, FYVE/PHD-type (1);	0.000000	0.85682	D	0.000000	D	0.91402	0.7287	M	0.93150	3.385	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0	D	0.92908	0.6345	10	0.87932	D	0	-34.7271	11.1979	0.48724	1.0:0.0:0.0:0.0	.	25;25;25;25;25	B4DKW7;B8ZZ97;Q9BV36-2;Q9BV36;G5E9G5	.;.;.;MELPH_HUMAN;.	V	25	ENSP00000409170:D25V;ENSP00000403909:D25V;ENSP00000386338:D25V;ENSP00000264605:D25V;ENSP00000414849:D25V;ENSP00000341845:D25V;ENSP00000386780:D25V	ENSP00000264605:D25V	D	+	2	0	MLPH	238066882	1.000000	0.71417	1.000000	0.80357	0.649000	0.38597	7.680000	0.84062	1.900000	0.55004	0.472000	0.43445	GAT		0.542	MLPH-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257083.2	NM_024101		22	74	0	0	0	1	0	22	74					T	238402143	A	T	238402143	3	4	137	1	0	0	0	0	1	0	0	0	9633	333	12	5	76	5	MLPH	2	238402143	Missense_Mutation	SNP	A	TCGA-EJ-A8FS-01A-11D-A34U-08	118674436	238402143	4797230	8	6909											
SLC38A3	10991	broad.mit.edu	37	chr3	50255182	50255182	+	RNA	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accacaggcaacttcagccaCgtggagatcgtgaaggagaa	14	5	12	10	2	1	3	1	1	0	2	2	5	1	3	2	3	2	1	2	3	3	1			TCGA-EJ-A8FS-01A-11D-A34U-08	TCGA-EJ-A8FS-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d86eaa-de07-46a6-aa08-8906f255ae65	e3c8391f-2734-44a4-b1d4-729d7637f6d6	g.chr3:50255182C>T	ENST00000420502.1	+	0	918									solute carrier family 38, member 3											breast(1)|cervix(1)|endometrium(1)|lung(3)	6				BRCA - Breast invasive adenocarcinoma(193;0.000275)|KIRC - Kidney renal clear cell carcinoma(197;0.00548)|Kidney(197;0.00615)		ACTTCAGCCACGTGGAGATCG	0.572																																						ENST00000420502.1																			0				breast(1)|cervix(1)|endometrium(1)|lung(3)	6								solute carrier family 38, member 3	L-Asparagine(DB00174)|L-Glutamine(DB00130)|L-Histidine(DB00117)						65	67	66					3																	50255182		2049	4182	6231			10991				cellular nitrogen compound metabolic process|sodium ion transport	integral to plasma membrane	antiporter activity|L-alanine transmembrane transporter activity|L-asparagine transmembrane transporter activity|L-glutamine transmembrane transporter activity|L-histidine transmembrane transporter activity|symporter activity	g.chr3:50255182C>T	U49082	CCDS74940.1	3p21.3	2013-05-22			ENSG00000188338	ENSG00000188338		"Solute carriers"	18044	protein-coding gene	gene with protein product		604437				10619430, 10823827	Standard	XM_006712954		Approved	G17, SN1	uc003cyn.4	Q99624	OTTHUMG00000156764		3.37:g.50255182C>T										Q99624	S38A3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000275)|KIRC - Kidney renal clear cell carcinoma(197;0.00548)|Kidney(197;0.00615)	0	918	+									RNA	SNP	ENST00000420502.1	37																																																																																						0.572	SLC38A3-001	KNOWN	sequence_error|basic	processed_transcript	processed_transcript	OTTHUMT00000345635.2	NM_006841		17	31	0	0	0	1	0	17	31					T	50255182	C	T	50255182	1	4	137	0	1	0	0	0	0	0	0	0	14605	535	19	1		1	SLC38A3	3	50255182	RNA	SNP	C	TCGA-EJ-A8FS-01A-11D-A34U-08		50255182	147767248	9	6910											
KALRN	8997	broad.mit.edu	37	chr3	123988044	123988044	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcaccagatgtggcatgtgcGcaagctcaagctggaccagt	10	7	13	11	1	1	1	1	0	0	1	1	2	1	2	2	2	3	5	2	2	2	0			TCGA-EJ-A8FS-01A-11D-A34U-08	TCGA-EJ-A8FS-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d86eaa-de07-46a6-aa08-8906f255ae65	e3c8391f-2734-44a4-b1d4-729d7637f6d6	g.chr3:123988044G>A	ENST00000240874.3	+	5	1062	c.905G>A	c.(904-906)cGc>cAc	p.R302H	KALRN_ENST00000360013.3_Missense_Mutation_p.R302H|KALRN_ENST00000460856.1_Missense_Mutation_p.R302H	NM_003947.4	NP_003938.1	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	302					apoptotic signaling pathway (GO:0097190)|intracellular signal transduction (GO:0035556)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|protein phosphorylation (GO:0006468)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						TGGCATGTGCGCAAGCTCAAG	0.612																																						ENST00000360013.3																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						c.(904-906)cGc>cAc		kalirin, RhoGEF kinase							39	40	40					3																	123988044		2202	4299	6501	SO:0001583	missense	8997				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity	g.chr3:123988044G>A	U94190	CCDS3027.1, CCDS3028.1	3q21.2	2013-02-11	2005-03-11	2005-03-12	ENSG00000160145	ENSG00000160145		"Rho guanine nucleotide exchange factors", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	4814	protein-coding gene	gene with protein product	"serine/threonine kinase with Dbl and pleckstrin homology domains"	604605	"huntingtin-associated protein interacting protein (duo)"	HAPIP		9285789, 10023074	Standard	NM_001024660		Approved	duo, Hs.8004, TRAD, DUET, Kalirin, ARHGEF24	uc003ehd.3	O60229	OTTHUMG00000125545	ENST00000240874.3:c.905G>A	3.37:g.123988044G>A	ENSP00000240874:p.Arg302His					KALRN_ENST00000240874.3_Missense_Mutation_p.R302H|KALRN_ENST00000460856.1_Missense_Mutation_p.R302H	p.R302H	NM_001024660.3	NP_001019831.2	O60229	KALRN_HUMAN			5	1032	+			302					A8MSI4|C9JQ37|Q6ZN45|Q8TBQ5|Q9NSZ4|Q9Y2A5	Missense_Mutation	SNP	ENST00000240874.3	37	c.905G>A	CCDS3027.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	29.9|29.9	5.041694|5.041694	0.93685|0.93685	.|.	.|.	ENSG00000160145|ENSG00000160145	ENST00000354186|ENST00000460856;ENST00000240874;ENST00000360013	.|T;T;T	.|0.76060	.|-0.99;-0.99;-0.99	5.32|5.32	5.32|5.32	0.75619|0.75619	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.84284|0.84284	0.5438|0.5438	M|M	0.67625|0.67625	2.065|2.065	0.80722|0.80722	D|D	1|1	.|P;D;P	.|0.76494	.|0.902;0.999;0.941	.|B;D;P	.|0.76071	.|0.291;0.987;0.485	T|T	0.79303|0.79303	-0.1859|-0.1859	5|10	.|0.18276	.|T	.|0.48	.|.	19.1899|19.1899	0.93660|0.93660	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|302;302;302	.|C9IZQ6;O60229;O60229-2	.|.;KALRN_HUMAN;.	T|H	280|302	.|ENSP00000418611:R302H;ENSP00000240874:R302H;ENSP00000353109:R302H	.|ENSP00000240874:R302H	A|R	+|+	1|2	0|0	KALRN|KALRN	125470734|125470734	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.984000|0.984000	0.73092|0.73092	9.657000|9.657000	0.98554|0.98554	2.760000|2.760000	0.94817|0.94817	0.655000|0.655000	0.94253|0.94253	GCA|CGC		0.612	KALRN-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000258843.4	NM_003947		3	51	0	0	0	1	0	3	51					A	123988044	G	A	123988044	3	1	137	1	0	0	0	0	1	0	0	0	7975	1087	38	1	923	1	KALRN	3	123988044	Missense_Mutation	SNP	G	TCGA-EJ-A8FS-01A-11D-A34U-08	73732862	123988044	74034386	10	6911											
N4BP2	55728	broad.mit.edu	37	chr4	40123039	40123039	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taaactgtttggatccttttCattagaagccctgaaagact	12	14	7	8	0	1	3	1	1	0	2	2	4	2	4	2	1	2	1	2	1	5	5			TCGA-EJ-A8FS-01A-11D-A34U-08	TCGA-EJ-A8FS-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d86eaa-de07-46a6-aa08-8906f255ae65	e3c8391f-2734-44a4-b1d4-729d7637f6d6	g.chr4:40123039C>A	ENST00000261435.6	+	9	3724	c.3308C>A	c.(3307-3309)tCa>tAa	p.S1103*		NM_018177.4	NP_060647.2	Q86UW6	N4BP2_HUMAN	NEDD4 binding protein 2	1103					nucleic acid phosphodiester bond hydrolysis (GO:0090305)|phosphorylation (GO:0016310)	cytosol (GO:0005829)	ATP binding (GO:0005524)|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity (GO:0046404)|endonuclease activity (GO:0004519)			breast(4)|endometrium(3)|kidney(12)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	60						GGATCCTTTTCATTAGAAGCC	0.348																																						ENST00000261435.6																			0				breast(4)|endometrium(3)|kidney(12)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	60						c.(3307-3309)tCa>tAa		NEDD4 binding protein 2							68	74	72					4																	40123039		2202	4299	6501	SO:0001587	stop_gained	55728					cytoplasm	ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|endonuclease activity|protein binding	g.chr4:40123039C>A	AB037834	CCDS3457.1	4p14	2008-01-18			ENSG00000078177	ENSG00000078177			29851	protein-coding gene	gene with protein product	"BCL-3 binding protein"					10718198, 11717310	Standard	NM_018177		Approved	B3BP	uc003guy.4	Q86UW6	OTTHUMG00000128599	ENST00000261435.6:c.3308C>A	4.37:g.40123039C>A	ENSP00000261435:p.Ser1103*						p.S1103*	NM_018177.4	NP_060647.2	Q86UW6	N4BP2_HUMAN			9	3724	+			1103					A0AVR3|Q9NVK2|Q9P2D4	Nonsense_Mutation	SNP	ENST00000261435.6	37	c.3308C>A	CCDS3457.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	38|38	6.929252|6.929252	0.97944|0.97944	.|.	.|.	ENSG00000078177|ENSG00000078177	ENST00000513269|ENST00000261435;ENST00000381804	T|.	0.31769|.	1.48|.	5.86|5.86	5.86|5.86	0.93980|0.93980	.|.	.|0.235176	.|0.35495	.|N	.|0.003170	T|.	0.49592|.	0.1566|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.38607|.	-0.9653|.	5|.	0.51188|0.02654	T|T	0.08|1	-6.8203|-6.8203	20.1931|20.1931	0.98233|0.98233	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	L|X	749|1103;1023	ENSP00000426430:F749L|.	ENSP00000426430:F749L|ENSP00000261435:S1103X	F|S	+|+	3|2	2|0	N4BP2|N4BP2	39799434|39799434	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.924000|0.924000	0.55760|0.55760	5.369000|5.369000	0.66138|0.66138	2.771000|2.771000	0.95319|0.95319	0.563000|0.563000	0.77884|0.77884	TTC|TCA		0.348	N4BP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250458.2	NM_018177		18	39	1	0	7.21436e-19	1	7.76931e-19	18	39					A	40123039	C	A	40123039	4	1	137	1	0	0	0	0	0	1	0	0	10110	838	29	5	3334	5	N4BP2	4	40123039	Nonsense_Mutation	SNP	C	TCGA-EJ-A8FS-01A-11D-A34U-08		40123039	151031237	11	6912											
CHRNA9	55584	broad.mit.edu	37	chr4	40351353	40351353	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaaggtctccctgggagtgAccatcctgttggccatgact	9	10	11	11	0	1	2	0	2	1	0	3	3	2	3	4	3	0	1	4	3	2	1			TCGA-EJ-A8FS-01A-11D-A34U-08	TCGA-EJ-A8FS-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d86eaa-de07-46a6-aa08-8906f255ae65	e3c8391f-2734-44a4-b1d4-729d7637f6d6	g.chr4:40351353A>G	ENST00000310169.2	+	4	959	c.820A>G	c.(820-822)Acc>Gcc	p.T274A		NM_017581.3	NP_060051.2	Q9UGM1	ACHA9_HUMAN	cholinergic receptor, nicotinic, alpha 9 (neuronal)	274					detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|inner ear morphogenesis (GO:0042472)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|synaptic transmission (GO:0007268)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine-activated cation-selective channel activity (GO:0004889)|calcium channel activity (GO:0005262)			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(4)|stomach(1)	33					Galantamine(DB00674)|Nicotine(DB00184)	CCTGGGAGTGACCATCCTGTT	0.507																																					Esophageal Squamous(115;1297 1602 22235 25158 43327)	ENST00000310169.2																			0				breast(4)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(4)|stomach(1)	33						c.(820-822)Acc>Gcc		cholinergic receptor, nicotinic, alpha 9 (neuronal)	Nicotine(DB00184)						131	139	136					4																	40351353		2203	4300	6503	SO:0001583	missense	55584				elevation of cytosolic calcium ion concentration|synaptic transmission	cell junction|postsynaptic membrane	calcium channel activity|receptor activity	g.chr4:40351353A>G	AF227732	CCDS3459.1	4p14	2012-02-11	2012-02-07		ENSG00000174343	ENSG00000174343		"Cholinergic receptors", "Ligand-gated ion channels / Acetylcholine receptors, nicotinic"	14079	protein-coding gene	gene with protein product	"acetylcholine receptor, nicotinic, alpha 9 (neuronal)"	605116	"cholinergic receptor, nicotinic, alpha polypeptide 9"				Standard	NM_017581		Approved	NACHRA9	uc003gva.2	Q9UGM1	OTTHUMG00000099375	ENST00000310169.2:c.820A>G	4.37:g.40351353A>G	ENSP00000312663:p.Thr274Ala						p.T274A	NM_017581.3	NP_060051.2	Q9UGM1	ACHA9_HUMAN			4	959	+			274					Q14CY7|Q4W5A2|Q9NYV2	Missense_Mutation	SNP	ENST00000310169.2	37	c.820A>G	CCDS3459.1	.	.	.	.	.	.	.	.	.	.	A	20.8	4.056222	0.76074	.	.	ENSG00000174343	ENST00000310169	D	0.90261	-2.64	5.55	5.55	0.83447	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.000000	0.85682	D	0.000000	D	0.95822	0.8640	M	0.87758	2.905	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.96515	0.9381	10	0.87932	D	0	.	15.6992	0.77528	1.0:0.0:0.0:0.0	.	274	Q9UGM1	ACHA9_HUMAN	A	274	ENSP00000312663:T274A	ENSP00000312663:T274A	T	+	1	0	CHRNA9	40046110	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.327000	0.79147	2.122000	0.65172	0.459000	0.35465	ACC		0.507	CHRNA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216822.1			84	151	0	0	0	1	0	84	151					G	40351353	A	G	40351353	3	3	137	1	0	0	0	0	1	0	0	0	3389	275	10	4	834	4	CHRNA9	4	40351353	Missense_Mutation	SNP	A	TCGA-EJ-A8FS-01A-11D-A34U-08	228314	40351353	150802923	12	6913											
ELF2	1998	broad.mit.edu	37	chr4	139980684	139980684	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atggtgcacctgcattaactGactgaactgccacagttgaa	12	10	9	10	0	0	3	0	3	0	0	0	3	0	3	2	1	5	3	2	1	3	2			TCGA-EJ-A8FS-01A-11D-A34U-08	TCGA-EJ-A8FS-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d86eaa-de07-46a6-aa08-8906f255ae65	e3c8391f-2734-44a4-b1d4-729d7637f6d6	g.chr4:139980684G>C	ENST00000394235.2	-	10	1701	c.1199C>G	c.(1198-1200)tCa>tGa	p.S400*	ELF2_ENST00000510408.1_Nonsense_Mutation_p.S340*|ELF2_ENST00000379549.2_Nonsense_Mutation_p.S323*|ELF2_ENST00000265495.4_Nonsense_Mutation_p.S400*|ELF2_ENST00000515489.1_Intron|ELF2_ENST00000379550.1_Nonsense_Mutation_p.S412*|ELF2_ENST00000358635.3_Nonsense_Mutation_p.S352*	NM_001276458.1	NP_001263387.1			E74-like factor 2 (ets domain transcription factor)											endometrium(1)|kidney(4)|large_intestine(5)|lung(7)|ovary(1)|skin(1)	19	all_hematologic(180;0.162)					TGCATTAACTGACTGAACTGC	0.433																																						ENST00000394235.2																			0				endometrium(1)|kidney(4)|large_intestine(5)|lung(7)|ovary(1)|skin(1)	19						c.(1198-1200)tCa>tGa		E74-like factor 2 (ets domain transcription factor)							90	85	87					4																	139980684		2203	4300	6503	SO:0001587	stop_gained	1998				negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter	cytoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr4:139980684G>C	AF256222	CCDS3744.1, CCDS3745.1, CCDS64062.1, CCDS64063.1	4q28	2008-02-05			ENSG00000109381	ENSG00000109381			3317	protein-coding gene	gene with protein product						8756667	Standard	NM_201999		Approved	EU32, NERF, NERF-2, NERF-1A, NERF-1B	uc003ihm.2	Q15723	OTTHUMG00000133383	ENST00000394235.2:c.1199C>G	4.37:g.139980684G>C	ENSP00000377782:p.Ser400*					ELF2_ENST00000379549.2_Nonsense_Mutation_p.S323*|ELF2_ENST00000265495.4_Nonsense_Mutation_p.S400*|ELF2_ENST00000515489.1_Intron|ELF2_ENST00000379550.1_Nonsense_Mutation_p.S412*|ELF2_ENST00000358635.3_Nonsense_Mutation_p.S352*|ELF2_ENST00000510408.1_Nonsense_Mutation_p.S340*	p.S400*	NM_001276458.1	NP_001263387.1	Q15723	ELF2_HUMAN			10	1701	-	all_hematologic(180;0.162)		412						Nonsense_Mutation	SNP	ENST00000394235.2	37	c.1199C>G	CCDS3744.1	.	.	.	.	.	.	.	.	.	.	G	24.8	4.566552	0.86439	.	.	ENSG00000109381	ENST00000358635;ENST00000394235;ENST00000379550;ENST00000265495;ENST00000379549;ENST00000540754;ENST00000510408	.	.	.	5.6	5.6	0.85130	.	0.256048	0.40554	N	0.001069	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.6057	0.95580	0.0:0.0:1.0:0.0	.	.	.	.	X	352;400;412;400;323;215;340	.	.	S	-	2	0	ELF2	140200134	1.000000	0.71417	0.989000	0.46669	0.991000	0.79684	8.259000	0.89855	2.629000	0.89072	0.650000	0.86243	TCA		0.433	ELF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257233.2	NM_006874		4	105	0	0	0	1	0	4	105					C	139980684	G	C	139980684	4	2	137	1	0	0	0	0	0	1	0	0	5054	1294	45	5	550	5	ELF2	4	139980684	Nonsense_Mutation	SNP	G	TCGA-EJ-A8FS-01A-11D-A34U-08	99629331	139980684	51173592	13	6914											
FAT1	2195	broad.mit.edu	37	chr4	187540591	187540591	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aagagtggtggattatcattGaggtcggtaacgtccaccgt	10	11	13	7	3	1	2	1	1	0	1	3	3	2	3	2	4	1	1	2	4	3	3			TCGA-EJ-A8FS-01A-11D-A34U-08	TCGA-EJ-A8FS-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d86eaa-de07-46a6-aa08-8906f255ae65	e3c8391f-2734-44a4-b1d4-729d7637f6d6	g.chr4:187540591G>A	ENST00000441802.2	-	10	7358	c.7149C>T	c.(7147-7149)ctC>ctT	p.L2383L		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	2383	Cadherin 21. {ECO:0000255|PROSITE- ProRule:PRU00043}.				actin filament organization (GO:0007015)|anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						GATTATCATTGAGGTCGGTAA	0.502										HNSCC(5;0.00058)																											Colon(197;1040 2055 4143 4984 49344)	ENST00000441802.2																			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						c.(7147-7149)ctC>ctT		FAT atypical cadherin 1							56	57	57					4																	187540591		2076	4213	6289	SO:0001819	synonymous_variant	2195				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding	g.chr4:187540591G>A	X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857		"Cadherins / Cadherin-related"	3595	protein-coding gene	gene with protein product	"cadherin-related family member 8"	600976	"FAT tumor suppressor (Drosophila) homolog", "FAT tumor suppressor homolog 1 (Drosophila)"	FAT		8586420	Standard	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.7149C>T	4.37:g.187540591G>A		HNSCC(5;0.00058)					p.L2383L	NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN			10	7358	-			2383			Cadherin 21.			Silent	SNP	ENST00000441802.2	37	c.7149C>T	CCDS47177.1																																																																																				0.502	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3	NM_005245		18	44	0	0	0	1	0	18	44					A	187540591	G	A	187540591	2	1	137	1	0	0	0	0	0	0	0	1	5689	1277	45	3		3	FAT1	4	187540591	Silent	SNP	G	TCGA-EJ-A8FS-01A-11D-A34U-08	47559907	187540591	3613685	14	6915											
PDZD2	23037	broad.mit.edu	37	chr5	32089032	32089032	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaggaacaacctctaatgccTgccagaagtcccgactccaa	14	6	7	14	1	1	1	0	0	1	1	3	3	3	2	5	1	4	0	5	1	6	1			TCGA-EJ-A8FS-01A-11D-A34U-08	TCGA-EJ-A8FS-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d86eaa-de07-46a6-aa08-8906f255ae65	e3c8391f-2734-44a4-b1d4-729d7637f6d6	g.chr5:32089032T>C	ENST00000438447.1	+	20	5866	c.5478T>C	c.(5476-5478)ccT>ccC	p.P1826P	PDZD2_ENST00000282493.3_Silent_p.P1826P			O15018	PDZD2_HUMAN	PDZ domain containing 2	1826					cell adhesion (GO:0007155)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|nucleus (GO:0005634)				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						CTCTAATGCCTGCCAGAAGTC	0.468																																						ENST00000438447.1																			0				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						c.(5476-5478)ccT>ccC		PDZ domain containing 2							109	114	112					5																	32089032		2203	4300	6503	SO:0001819	synonymous_variant	23037				cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus		g.chr5:32089032T>C	AB002298	CCDS34137.1	5p14.1	2008-02-05	2006-01-24	2006-01-24		ENSG00000133401			18486	protein-coding gene	gene with protein product		610697	"PDZ domain containing 3"	PDZK3		9205841	Standard	XM_005248271		Approved	KIAA0300	uc003jhm.3	O15018		ENST00000438447.1:c.5478T>C	5.37:g.32089032T>C						PDZD2_ENST00000282493.3_Silent_p.P1826P	p.P1826P			O15018	PDZD2_HUMAN			20	5866	+			1826					Q9BXD4	Silent	SNP	ENST00000438447.1	37	c.5478T>C	CCDS34137.1																																																																																				0.468	PDZD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366608.1			29	46	0	0	0	1	0	29	46					C	32089032	T	C	32089032	2	2	137	1	0	0	0	0	0	0	0	1	11701	1567	55	4		4	PDZD2	5	32089032	Silent	SNP	T	TCGA-EJ-A8FS-01A-11D-A34U-08		32089032	148826228	15	6916											
APC	324	broad.mit.edu	37	chr5	112174658	112174658	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gttctaatcatggaattaatCaaaatgtaagccagtctttg	14	14	7	6	0	4	0	2	0	2	0	4	1	4	1	1	1	1	2	1	1	6	5			TCGA-EJ-A8FS-01A-11D-A34U-08	TCGA-EJ-A8FS-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d86eaa-de07-46a6-aa08-8906f255ae65	e3c8391f-2734-44a4-b1d4-729d7637f6d6	g.chr5:112174658C>T	ENST00000457016.1	+	16	3747	c.3367C>T	c.(3367-3369)Caa>Taa	p.Q1123*	CTC-554D6.1_ENST00000520401.1_Intron|APC_ENST00000257430.4_Nonsense_Mutation_p.Q1123*|APC_ENST00000508376.2_Nonsense_Mutation_p.Q1123*			P25054	APC_HUMAN	adenomatous polyposis coli	1123	Responsible for down-regulation through a process mediated by direct ubiquitination.|Ser-rich.				anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|axis specification (GO:0009798)|axonogenesis (GO:0007409)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|canonical Wnt signaling pathway involved in positive regulation of apoptotic process (GO:0044337)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to DNA damage stimulus (GO:0006974)|chromosome organization (GO:0051276)|cytoplasmic microtubule organization (GO:0031122)|dorsal/ventral pattern formation (GO:0009953)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cytokinesis (GO:0000281)|mitotic spindle assembly checkpoint (GO:0007094)|muscle cell cellular homeostasis (GO:0046716)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of odontogenesis (GO:0042483)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell division (GO:0051781)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of pseudopodium assembly (GO:0031274)|protein complex assembly (GO:0006461)|proximal/distal pattern formation (GO:0009954)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|regulation of microtubule-based process (GO:0032886)|regulation of nitrogen compound metabolic process (GO:0051171)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoclast differentiation (GO:0045670)|retina development in camera-type eye (GO:0060041)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tight junction assembly (GO:0070830)	axonal growth cone (GO:0044295)|beta-catenin destruction complex (GO:0030877)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|kinetochore (GO:0000776)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|microtubule plus-end (GO:0035371)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)	beta-catenin binding (GO:0008013)|gamma-catenin binding (GO:0045295)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|protein kinase binding (GO:0019901)|protein kinase regulator activity (GO:0019887)	p.?(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		TGGAATTAATCAAAATGTAAG	0.403		12	"D, Mis, N, F, S"		"colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"	"colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)																											NSCLC(107;854 1218 9699 17025 28335 47076 52975)|Esophageal Squamous(32;282 584 32991 36563 39392 49665 50115)	ENST00000457016.1		12	yes	Rec	yes	Adenomatous polyposis coli; Turcot syndrome	5	5q21	324	"D, Mis, N, F, S"	adenomatous polyposis of the colon gene			"E, M, O"		"colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"	"colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"		1	Unknown(1)	p.?(1)	skin(1)	NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261	GRCh37	CM011276	APC	M		c.(3367-3369)Caa>Taa		adenomatous polyposis coli							81	73	76					5																	112174658		2202	4300	6502	SO:0001587	stop_gained	324	Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome;Familial Infiltrative Mesenteric Fibromatosis;FAP, incl.: Gardner s., Attenuated FAP, Flat Adenoma s., Oldfield s,	canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly	adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction	beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity	g.chr5:112174658C>T	M74088	CCDS4107.1	5q21-q22	2014-09-17	2008-01-08		ENSG00000134982	ENSG00000134982		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "Armadillo repeat containing"	583	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 46"	611731	"adenomatosis polyposis coli"			1651563	Standard	NM_001127511		Approved	DP2, DP3, DP2.5, PPP1R46	uc003kpy.4	P25054	OTTHUMG00000128806	ENST00000457016.1:c.3367C>T	5.37:g.112174658C>T	ENSP00000413133:p.Gln1123*	TSP Lung(16;0.13)				APC_ENST00000257430.4_Nonsense_Mutation_p.Q1123*|CTC-554D6.1_ENST00000520401.1_Intron|APC_ENST00000508376.2_Nonsense_Mutation_p.Q1123*	p.Q1123*			P25054	APC_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)	16	3747	+		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)	1123			Responsible for down-regulation through a process mediated by direct ubiquitination.|Ser-rich.		D3DT03|Q15162|Q15163|Q93042	Nonsense_Mutation	SNP	ENST00000457016.1	37	c.3367C>T	CCDS4107.1	.	.	.	.	.	.	.	.	.	.	C	38	6.727967	0.97792	.	.	ENSG00000134982	ENST00000457016;ENST00000507379;ENST00000257430;ENST00000508376;ENST00000512211	.	.	.	5.76	5.76	0.90799	.	0.190358	0.45867	D	0.000327	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.29301	T	0.29	-14.8121	13.2077	0.59807	0.0:0.9274:0.0:0.0726	.	.	.	.	X	1123;1105;1123;1123;1123	.	ENSP00000257430:Q1123X	Q	+	1	0	APC	112202557	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.439000	0.52878	2.732000	0.93576	0.655000	0.94253	CAA		0.403	APC-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250738.2	NM_000038		15	22	0	0	0	1	0	15	22					T	112174658	C	T	112174658	4	4	137	1	0	0	0	0	0	1	0	0	763	827	29	3	3425	3	APC	5	112174658	Nonsense_Mutation	SNP	C	TCGA-EJ-A8FS-01A-11D-A34U-08	80085626	112174658	68740602	16	6917											
EGR1	1958	broad.mit.edu	37	chr5	137802637	137802637	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gcctagtgagcatgaccaacCcaccggcctcctcgtcctca	8	7	8	18	2	1	2	1	2	0	0	4	2	3	2	7	1	2	1	7	1	2	1			TCGA-EJ-A8FS-01A-11D-A34U-08	TCGA-EJ-A8FS-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d86eaa-de07-46a6-aa08-8906f255ae65	e3c8391f-2734-44a4-b1d4-729d7637f6d6	g.chr5:137802637C>G	ENST00000239938.4	+	2	771	c.499C>G	c.(499-501)Cca>Gca	p.P167A		NM_001964.2	NP_001955.1	P18146	EGR1_HUMAN	early growth response 1	167					BMP signaling pathway (GO:0030509)|cellular response to antibiotic (GO:0071236)|cellular response to cAMP (GO:0071320)|cellular response to drug (GO:0035690)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to gamma radiation (GO:0071480)|cellular response to gonadotropin stimulus (GO:0071371)|cellular response to growth factor stimulus (GO:0071363)|cellular response to heparin (GO:0071504)|cellular response to hyperoxia (GO:0071455)|cellular response to hypoxia (GO:0071456)|cellular response to insulin stimulus (GO:0032869)|cellular response to isoquinoline alkaloid (GO:0071317)|cellular response to mechanical stimulus (GO:0071260)|cellular response to mycophenolic acid (GO:0071506)|cellular response to steroid hormone stimulus (GO:0071383)|circadian rhythm (GO:0007623)|cytokine-mediated signaling pathway (GO:0019221)|glomerular mesangial cell proliferation (GO:0072110)|interleukin-1-mediated signaling pathway (GO:0070498)|learning or memory (GO:0007611)|long-term synaptic potentiation (GO:0060291)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|oligodendrocyte differentiation (GO:0048709)|positive regulation of glomerular metanephric mesangial cell proliferation (GO:0072303)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of protein sumoylation (GO:0033233)|response to amphetamine (GO:0001975)|response to carbon monoxide (GO:0034465)|response to cocaine (GO:0042220)|response to electrical stimulus (GO:0051602)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to norepinephrine (GO:0071873)|response to nutrient levels (GO:0031667)|skeletal muscle cell differentiation (GO:0035914)|T cell differentiation (GO:0030217)|transcription from RNA polymerase II promoter (GO:0006366)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|histone acetyltransferase binding (GO:0035035)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|ovary(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			CATGACCAACCCACCGGCCTC	0.652																																						ENST00000239938.4																			0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|ovary(1)	6						c.(499-501)Cca>Gca		early growth response 1							114	117	116					5																	137802637		2203	4300	6503	SO:0001583	missense	1958				cellular response to heparin|cellular response to mycophenolic acid|glomerular mesangial cell proliferation|interleukin-1-mediated signaling pathway|positive regulation of glomerular metanephric mesangial cell proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of protein sumoylation|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	cytoplasm|nucleus	histone acetyltransferase binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr5:137802637C>G	M62829	CCDS4206.1	5q23-q31	2013-01-08			ENSG00000120738	ENSG00000120738		"Zinc fingers, C2H2-type"	3238	protein-coding gene	gene with protein product	"nerve growth factor-induced protein A", "transcription factor ETR103", "zinc finger protein 225", "early growth response protein 1"	128990				3127059	Standard	NM_001964		Approved	TIS8, G0S30, NGFI-A, KROX-24, ZIF-268, AT225, ZNF225	uc003ldb.1	P18146	OTTHUMG00000129197	ENST00000239938.4:c.499C>G	5.37:g.137802637C>G	ENSP00000239938:p.Pro167Ala						p.P167A	NM_001964.2	NP_001955.1	P18146	EGR1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)		2	771	+			167						Missense_Mutation	SNP	ENST00000239938.4	37	c.499C>G	CCDS4206.1	.	.	.	.	.	.	.	.	.	.	C	0.006	-2.046602	0.00398	.	.	ENSG00000120738	ENST00000535792;ENST00000239938	T	0.23754	1.89	4.89	4.02	0.46733	.	0.114530	0.64402	D	0.000011	T	0.14098	0.0341	N	0.25485	0.75	0.36872	D	0.888947	B	0.02656	0.0	B	0.09377	0.004	T	0.11591	-1.0581	10	0.07030	T	0.85	-2.4788	8.3922	0.32535	0.0:0.6214:0.2881:0.0905	.	167	P18146	EGR1_HUMAN	A	167	ENSP00000239938:P167A	ENSP00000239938:P167A	P	+	1	0	EGR1	137830536	1.000000	0.71417	0.960000	0.40013	0.019000	0.09904	3.228000	0.51270	1.053000	0.40415	-0.379000	0.06801	CCA		0.652	EGR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251274.1	NM_001964		48	74	0	0	0	1	0	48	74					G	137802637	C	G	137802637	3	3	137	1	0	0	0	0	1	0	0	0	4971	623	22	5	505	5	EGR1	5	137802637	Missense_Mutation	SNP	C	TCGA-EJ-A8FS-01A-11D-A34U-08	25627979	137802637	43112623	17	6918											
PCDHA7	56141	broad.mit.edu	37	chr5	140215504	140215504	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agctacgtgtcagtgcacgcGgagagcggcaaggtgtacgc	9	6	16	10	5	1	1	1	0	0	1	1	2	1	1	0	3	5	4	0	3	3	2			TCGA-EJ-A8FS-01A-11D-A34U-08	TCGA-EJ-A8FS-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d86eaa-de07-46a6-aa08-8906f255ae65	e3c8391f-2734-44a4-b1d4-729d7637f6d6	g.chr5:140215504G>T	ENST00000525929.1	+	1	1536	c.1536G>T	c.(1534-1536)gcG>gcT	p.A512A	PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA7_ENST00000378125.3_Silent_p.A512A|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529619.1_Intron	NM_018910.2	NP_061733.1	Q9UN72	PCDA7_HUMAN	protocadherin alpha 7	512	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAGTGCACGCGGAGAGCGGCA	0.701																																					NSCLC(160;258 2013 5070 22440 28951)	ENST00000525929.1																			0				NS(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63						c.(1534-1536)gcG>gcT									68	73	72					5																	140215504		2203	4296	6499	SO:0001819	synonymous_variant	0							g.chr5:140215504G>T	AF152485	CCDS54918.1	5q31	2010-11-26				ENSG00000204963		"Cadherins / Protocadherins : Clustered"	8673	other	complex locus constituent	"KIAA0345-like 7", "ortholog to mouse CNR4"	606313		CNRS4		10380929, 10662547	Standard	NM_018910		Approved	CNR4, CRNR4		Q9UN72		ENST00000525929.1:c.1536G>T	5.37:g.140215504G>T						PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000378125.3_Silent_p.A512A|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron	p.A512A	NM_018910.2	NP_061733.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1536	+								O75282	Silent	SNP	ENST00000525929.1	37	c.1536G>T	CCDS54918.1																																																																																				0.701	PCDHA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372887.2	NM_018910		61	101	1	0	9.40535e-28	1	1.0534e-27	61	101					T	140215504	G	T	140215504	2	4	137	1	0	0	0	0	0	0	0	1	11529	1103	39	5		5	PCDHA7	5	140215504	Silent	SNP	G	TCGA-EJ-A8FS-01A-11D-A34U-08	2412867	140215504	40699756	18	6919											
GTF3C6	112495	broad.mit.edu	37	chr6	111288987	111288987	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttatggaaactcaaatgctGccttagaaatcactcctaga	14	12	6	9	0	2	2	2	0	0	2	3	3	3	3	2	1	3	1	2	1	6	4			TCGA-EJ-A8FS-01A-11D-A34U-08	TCGA-EJ-A8FS-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d86eaa-de07-46a6-aa08-8906f255ae65	e3c8391f-2734-44a4-b1d4-729d7637f6d6	g.chr6:111288987G>A	ENST00000329970.7	+	6	846	c.636G>A	c.(634-636)ctG>ctA	p.L212L	GTF3C6_ENST00000480191.1_3'UTR|AL357515.1_ENST00000583422.1_RNA	NM_138408.3	NP_612417.1	Q969F1	TF3C6_HUMAN	general transcription factor IIIC, polypeptide 6, alpha 35kDa	212					5S class rRNA transcription from RNA polymerase III type 1 promoter (GO:0042791)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)|tRNA transcription from RNA polymerase III promoter (GO:0042797)	transcription factor TFIIIC complex (GO:0000127)	DNA binding (GO:0003677)			NS(1)|kidney(1)|large_intestine(1)|lung(1)	4		all_cancers(87;0.00328)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|Colorectal(196;0.0466)|all_epithelial(87;0.0575)		OV - Ovarian serous cystadenocarcinoma(136;0.105)|all cancers(137;0.179)|Epithelial(106;0.186)		CTCAAATGCTGCCTTAGAAAT	0.338																																						ENST00000329970.7																			0				NS(1)|kidney(1)|large_intestine(1)|lung(1)	4						c.(634-636)ctG>ctA		general transcription factor IIIC, polypeptide 6, alpha 35kDa							76	79	78					6																	111288987		2203	4299	6502	SO:0001819	synonymous_variant	112495					transcription factor TFIIIC complex	DNA binding|protein binding	g.chr6:111288987G>A	AK057977	CCDS5087.1	6q21	2010-03-23	2007-07-26	2007-07-26	ENSG00000155115	ENSG00000155115		"General transcription factors"	20872	protein-coding gene	gene with protein product		611784	"chromosome 6 open reading frame 51"	C6orf51		17409385	Standard	NM_138408		Approved	bA397G5.3, TFIIIC35	uc003pum.3	Q969F1	OTTHUMG00000015370	ENST00000329970.7:c.636G>A	6.37:g.111288987G>A						GTF3C6_ENST00000480191.1_3'UTR	p.L212L	NM_138408.3	NP_612417.1	Q969F1	TF3C6_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.105)|all cancers(137;0.179)|Epithelial(106;0.186)	6	846	+		all_cancers(87;0.00328)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|Colorectal(196;0.0466)|all_epithelial(87;0.0575)	212					Q5VXN2	Silent	SNP	ENST00000329970.7	37	c.636G>A	CCDS5087.1																																																																																				0.338	GTF3C6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041820.1	NM_138408		3	29	0	0	0	1	0	3	29					A	111288987	G	A	111288987	2	1	137	1	0	0	0	0	0	0	0	1	6877	1306	46	3		3	GTF3C6	6	111288987	Silent	SNP	G	TCGA-EJ-A8FS-01A-11D-A34U-08		111288987	59826080	19	6920											
RFPL4B	442247	broad.mit.edu	37	chr6	112671567	112671568	+	Frame_Shift_Ins	INS	-	-	T																															ctgacttagaagaaatccagINSttttttgatgttgacaataa																										TCGA-EJ-A8FS-01A-11D-A34U-08	TCGA-EJ-A8FS-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d86eaa-de07-46a6-aa08-8906f255ae65	e3c8391f-2734-44a4-b1d4-729d7637f6d6	g.chr6:112671567_112671568insT	ENST00000441065.2	+	3	969_970	c.657_658insT	c.(658-660)tttfs	p.F220fs	RP11-506B6.6_ENST00000590673.1_RNA|RP11-506B6.6_ENST00000587816.1_RNA|RP11-506B6.6_ENST00000585611.1_RNA	NM_001013734.2	NP_001013756.2	Q6ZWI9	RFPLB_HUMAN	ret finger protein-like 4B	220	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.						zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|skin(1)	14		all_cancers(87;9.44e-05)|all_hematologic(75;0.000114)|all_epithelial(87;0.00265)|Colorectal(196;0.0209)		all cancers(137;0.0202)|OV - Ovarian serous cystadenocarcinoma(136;0.0477)|Epithelial(106;0.0646)|GBM - Glioblastoma multiforme(226;0.0866)|BRCA - Breast invasive adenocarcinoma(108;0.244)		AAGAAATCCAGTTTTTTGATGT	0.455																																						ENST00000441065.2																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|skin(1)	14						c.(655-660)cattttfs		ret finger protein-like 4B																																				SO:0001589	frameshift_variant	442247						zinc ion binding	g.chr6:112671567_112671568insT	AK122906	CCDS34515.1	6q21	2007-04-24			ENSG00000251258	ENSG00000251258		"RING-type (C3HC4) zinc fingers"	33264	protein-coding gene	gene with protein product							Standard	NM_001013734		Approved	RNF211	uc003pvx.1	Q6ZWI9	OTTHUMG00000015390	ENST00000441065.2:c.663dupT	6.37:g.112671573_112671573dupT	ENSP00000423391:p.Phe220fs						p.HF219fs	NM_001013734.2	NP_001013756.2	Q6ZWI9	RFPLB_HUMAN		all cancers(137;0.0202)|OV - Ovarian serous cystadenocarcinoma(136;0.0477)|Epithelial(106;0.0646)|GBM - Glioblastoma multiforme(226;0.0866)|BRCA - Breast invasive adenocarcinoma(108;0.244)	3	969_970	+		all_cancers(87;9.44e-05)|all_hematologic(75;0.000114)|all_epithelial(87;0.00265)|Colorectal(196;0.0209)	219			B30.2/SPRY.		A2RU91	Frame_Shift_Ins	INS	ENST00000441065.2	37	c.657_658insT	CCDS34515.1																																																																																				0.455	RFPL4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041885.2	NM_001013734		17	25						17	25	---	---	---	---	T	112671568	-	T	112671567	7	5	137	1	0	1	1	0	0	0	0	0	13256	1020	36	0	659	0	RFPL4B	6	112671567	Frame_Shift_Ins	INS	-	TCGA-EJ-A8FS-01A-11D-A34U-08	1382580	112671567	58443500	20	6921											
TIAM2	26230	broad.mit.edu	37	chr6	155565186	155565186	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttatacttggagccacttcaGaatgagacctttcttaccca	11	13	6	11	0	2	2	1	1	1	2	2	4	2	3	3	1	3	0	3	1	4	6			TCGA-EJ-A8FS-01A-11D-A34U-08	TCGA-EJ-A8FS-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d86eaa-de07-46a6-aa08-8906f255ae65	e3c8391f-2734-44a4-b1d4-729d7637f6d6	g.chr6:155565186G>C	ENST00000461783.3	+	19	4663	c.3390G>C	c.(3388-3390)caG>caC	p.Q1130H	TIAM2_ENST00000528391.2_Missense_Mutation_p.Q466H|TIAM2_ENST00000318981.5_Missense_Mutation_p.Q1130H|TIAM2_ENST00000275246.7_Missense_Mutation_p.Q55H|TIAM2_ENST00000367174.2_Missense_Mutation_p.Q506H|TIAM2_ENST00000456144.1_Missense_Mutation_p.Q1130H|TIAM2_ENST00000529824.2_Missense_Mutation_p.Q1130H|TIAM2_ENST00000456877.2_Missense_Mutation_p.Q442H|TIAM2_ENST00000360366.4_Missense_Mutation_p.Q1154H			Q8IVF5	TIAM2_HUMAN	T-cell lymphoma invasion and metastasis 2	1130	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				apoptotic signaling pathway (GO:0097190)|cellular lipid metabolic process (GO:0044255)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	cell projection (GO:0042995)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)|receptor signaling protein activity (GO:0005057)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)		AGCCACTTCAGAATGAGACCT	0.398																																						ENST00000461783.3																			0				breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65						c.(3388-3390)caG>caC		T-cell lymphoma invasion and metastasis 2							160	150	153					6																	155565186		2203	4300	6503	SO:0001583	missense	26230				apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|filopodium|growth cone|lamellipodium	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity	g.chr6:155565186G>C		CCDS34558.1, CCDS34559.1	6q25	2013-01-10			ENSG00000146426	ENSG00000146426		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	11806	protein-coding gene	gene with protein product		604709				10512681	Standard	NM_012454		Approved	STEF	uc003qqe.3	Q8IVF5	OTTHUMG00000015880	ENST00000461783.3:c.3390G>C	6.37:g.155565186G>C	ENSP00000437188:p.Gln1130His					TIAM2_ENST00000529824.2_Missense_Mutation_p.Q1130H|TIAM2_ENST00000360366.4_Missense_Mutation_p.Q1154H|TIAM2_ENST00000456877.2_Missense_Mutation_p.Q442H|TIAM2_ENST00000367174.2_Missense_Mutation_p.Q506H|TIAM2_ENST00000456144.1_Missense_Mutation_p.Q1130H|TIAM2_ENST00000318981.5_Missense_Mutation_p.Q1130H|TIAM2_ENST00000275246.7_Missense_Mutation_p.Q55H|TIAM2_ENST00000528391.2_Missense_Mutation_p.Q466H	p.Q1130H			Q8IVF5	TIAM2_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)	19	4663	+		Ovarian(120;0.196)	1130			DH.		B2RP56|C9JZV2|Q6NXN9|Q6ZUP9|Q9UFG6|Q9UKV9|Q9UKW0	Missense_Mutation	SNP	ENST00000461783.3	37	c.3390G>C	CCDS34558.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.947910	0.73787	.	.	ENSG00000146426	ENST00000461783;ENST00000528928;ENST00000528535;ENST00000456144;ENST00000318981;ENST00000367174;ENST00000360366;ENST00000529824;ENST00000456877;ENST00000528391;ENST00000275246;ENST00000462408	T;T;T;T;T;T;T;T;T;T;T	0.64085	-0.08;-0.08;-0.08;-0.08;-0.08;-0.08;-0.08;-0.08;-0.08;-0.08;-0.08	5.29	-2.21	0.06973	Dbl homology (DH) domain (5);	0.057473	0.64402	D	0.000001	T	0.68137	0.2968	M	0.78223	2.4	0.40603	D	0.981608	P;D;D;D	0.89917	0.873;1.0;1.0;0.994	P;D;D;D	0.91635	0.749;0.999;0.997;0.992	T	0.73553	-0.3946	10	0.56958	D	0.05	.	13.689	0.62533	0.3879:0.0:0.6121:0.0	.	466;1130;1154;1130	E9PKT1;Q8IVF5-2;Q8IVF5-5;Q8IVF5	.;.;.;TIAM2_HUMAN	H	1130;1376;1130;1130;1130;506;1154;1130;442;466;55;68	ENSP00000437188:Q1130H;ENSP00000434901:Q1130H;ENSP00000407746:Q1130H;ENSP00000327315:Q1130H;ENSP00000356142:Q506H;ENSP00000353528:Q1154H;ENSP00000433348:Q1130H;ENSP00000407183:Q442H;ENSP00000435335:Q466H;ENSP00000275246:Q55H;ENSP00000431269:Q68H	ENSP00000275246:Q55H	Q	+	3	2	TIAM2	155606878	0.987000	0.35691	0.895000	0.35142	0.993000	0.82548	0.209000	0.17435	-0.540000	0.06265	0.561000	0.74099	CAG		0.398	TIAM2-005	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000387980.2	NM_012454		39	65	0	0	0	1	0	39	65					C	155565186	G	C	155565186	3	2	137	1	0	0	0	0	1	0	0	0	15888	933	33	5	3444	5	TIAM2	6	155565186	Missense_Mutation	SNP	G	TCGA-EJ-A8FS-01A-11D-A34U-08	42893619	155565186	15549881	21	6922											
PPP1R3A	5506	broad.mit.edu	37	chr7	113519779	113519779	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gccattagttgatctgaagaGgggcaaggtatttgcactgt	10	12	13	6	0	1	3	0	2	1	1	1	3	1	3	1	3	1	4	1	3	4	4			TCGA-EJ-A8FS-01A-11D-A34U-08	TCGA-EJ-A8FS-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d86eaa-de07-46a6-aa08-8906f255ae65	e3c8391f-2734-44a4-b1d4-729d7637f6d6	g.chr7:113519779G>C	ENST00000284601.3	-	4	1436	c.1368C>G	c.(1366-1368)ccC>ccG	p.P456P		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	456					glycogen metabolic process (GO:0005977)	integral component of membrane (GO:0016021)				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						GATCTGAAGAGGGGCAAGGTA	0.398																																						ENST00000284601.3																			0				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						c.(1366-1368)ccC>ccG		protein phosphatase 1, regulatory subunit 3A							89	82	84					7																	113519779		2203	4299	6502	SO:0001819	synonymous_variant	5506				glycogen metabolic process	integral to membrane		g.chr7:113519779G>C	AF024578	CCDS5759.1	7q31.1	2012-04-17	2011-10-04	2001-07-02	ENSG00000154415	ENSG00000154415	3.1.3.16	"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	9291	protein-coding gene	gene with protein product	"glycogen-associated regulatory subunit of protein phosphatase-1", "protein phosphatase 1 regulatory subunit GM"	600917	"protein phosphatase 1, regulatory (inhibitor) subunit 3A (glycogen and sarcoplasmic reticulum binding subunit, skeletal muscle)", "protein phosphatase 1, regulatory (inhibitor) subunit 3A"	PPP1R3		7926294	Standard	NM_002711		Approved	GM	uc010ljy.1	Q16821	OTTHUMG00000156944	ENST00000284601.3:c.1368C>G	7.37:g.113519779G>C							p.P456P	NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN			4	1436	-			456					A0AVQ2|A4D0T6|O43476|Q75LN8|Q7KYM8|Q86UI6	Silent	SNP	ENST00000284601.3	37	c.1368C>G	CCDS5759.1																																																																																				0.398	PPP1R3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346724.1	NM_002711		5	103	0	0	0	1	0	5	103					C	113519779	G	C	113519779	2	2	137	1	0	0	0	0	0	0	0	1	12371	987	35	5		5	PPP1R3A	7	113519779	Silent	SNP	G	TCGA-EJ-A8FS-01A-11D-A34U-08		113519779	45618884	22	6923											
KIAA1147	57189	broad.mit.edu	37	chr7	141385300	141385300	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aacctggttctccaagaagtGcatgtagcggtaaagcagtg	12	9	12	8	1	1	1	0	0	1	1	2	1	1	1	2	2	4	5	2	2	6	3			TCGA-EJ-A8FS-01A-11D-A34U-08	TCGA-EJ-A8FS-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d86eaa-de07-46a6-aa08-8906f255ae65	e3c8391f-2734-44a4-b1d4-729d7637f6d6	g.chr7:141385300G>C	ENST00000536163.1	-	3	504	c.505C>G	c.(505-507)Cac>Gac	p.H169D	KIAA1147_ENST00000482493.1_Missense_Mutation_p.H78D	NM_001080392.1	NP_001073861.1	A4D1U4	LCHN_HUMAN	KIAA1147	169										breast(3)|endometrium(4)|kidney(2)|large_intestine(1)|ovary(1)|skin(1)	12	Melanoma(164;0.0171)					TCCAAGAAGTGCATGTAGCGG	0.592																																						ENST00000536163.1																			0				breast(3)|endometrium(4)|kidney(2)|large_intestine(1)|ovary(1)|skin(1)	12						c.(505-507)Cac>Gac		KIAA1147							158	163	161					7																	141385300		2165	4262	6427	SO:0001583	missense	57189							g.chr7:141385300G>C	AB032973	CCDS47726.1	7q34	2012-10-04			ENSG00000257093	ENSG00000257093			29472	protein-coding gene	gene with protein product							Standard	NM_001080392		Approved	LCHN	uc003vwk.3	A4D1U4	OTTHUMG00000157539	ENST00000536163.1:c.505C>G	7.37:g.141385300G>C	ENSP00000445768:p.His169Asp					KIAA1147_ENST00000482493.1_Missense_Mutation_p.H78D	p.H169D	NM_001080392.1	NP_001073861.1	A4D1U4	LCHN_HUMAN			3	504	-	Melanoma(164;0.0171)		169					Q9ULS3	Missense_Mutation	SNP	ENST00000536163.1	37	c.505C>G	CCDS47726.1	.	.	.	.	.	.	.	.	.	.	G	8.352	0.831039	0.16820	.	.	ENSG00000257093	ENST00000536163;ENST00000482493	.	.	.	5.02	5.02	0.67125	.	0.000000	0.85682	D	0.000000	T	0.52677	0.1749	L	0.39898	1.24	0.58432	D	0.999999	B	0.14438	0.01	B	0.19391	0.025	T	0.48736	-0.9009	9	0.10902	T	0.67	-30.7111	16.5356	0.84372	0.0:0.0:1.0:0.0	.	169	A4D1U4	LCHN_HUMAN	D	169;78	.	ENSP00000297761:H169D	H	-	1	0	KIAA1147	141031769	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.412000	0.90232	2.329000	0.79093	0.591000	0.81541	CAC		0.592	KIAA1147-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349104.1			51	77	0	0	0	1	0	51	77					C	141385300	G	C	141385300	3	2	137	1	0	0	0	0	1	0	0	0	8210	1319	46	5	890	5	KIAA1147	7	141385300	Missense_Mutation	SNP	G	TCGA-EJ-A8FS-01A-11D-A34U-08	27865521	141385300	17753363	23	6924											
ADHFE1	137872	broad.mit.edu	37	chr8	67356974	67356974	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	taatgtgagagtggaaccaaCggattcaaggtattcttgta	13	12	11	5	1	2	1	1	1	1	1	2	4	2	3	1	3	2	2	1	3	6	6			TCGA-EJ-A8FS-01A-11D-A34U-08	TCGA-EJ-A8FS-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d86eaa-de07-46a6-aa08-8906f255ae65	e3c8391f-2734-44a4-b1d4-729d7637f6d6	g.chr8:67356974C>T	ENST00000396623.3	+	5	375	c.344C>T	c.(343-345)aCg>aTg	p.T115M	ADHFE1_ENST00000496501.1_3'UTR|ADHFE1_ENST00000379385.4_Missense_Mutation_p.T115M|ADHFE1_ENST00000415254.1_Missense_Mutation_p.T67M	NM_144650.2	NP_653251.2	Q8IWW8	HOT_HUMAN	alcohol dehydrogenase, iron containing, 1	115					2-oxoglutarate metabolic process (GO:0006103)|cellular metabolic process (GO:0044237)|molecular hydrogen transport (GO:0015993)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	hydroxyacid-oxoacid transhydrogenase activity (GO:0047988)|metal ion binding (GO:0046872)	p.T67M(1)|p.T115M(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	29		Lung NSC(129;0.197)	Epithelial(68;0.0321)|all cancers(69;0.0751)|BRCA - Breast invasive adenocarcinoma(89;0.0855)|OV - Ovarian serous cystadenocarcinoma(28;0.226)			GTGGAACCAACGGATTCAAGG	0.438																																						ENST00000396623.3																			2	Substitution - Missense(2)	p.T67M(1)|p.T115M(1)	endometrium(2)	breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	29						c.(343-345)aCg>aTg		alcohol dehydrogenase, iron containing, 1							258	243	248					8																	67356974		2203	4300	6503	SO:0001583	missense	137872				2-oxoglutarate metabolic process|molecular hydrogen transport	mitochondrial matrix	hydroxyacid-oxoacid transhydrogenase activity|metal ion binding	g.chr8:67356974C>T	AK056992	CCDS6190.2	8q12.3	2013-05-21			ENSG00000147576	ENSG00000147576	1.1.99.24	"Alcohol dehydrogenases"	16354	protein-coding gene	gene with protein product	"hydroxyacid-oxoacid transhydrogenase"	611083				12592711	Standard	NM_144650		Approved	ADHFe1, FLJ32430	uc003xwb.4	Q8IWW8	OTTHUMG00000150215	ENST00000396623.3:c.344C>T	8.37:g.67356974C>T	ENSP00000379865:p.Thr115Met					ADHFE1_ENST00000379385.4_Missense_Mutation_p.T115M|ADHFE1_ENST00000496501.1_3'UTR|ADHFE1_ENST00000415254.1_Missense_Mutation_p.T67M	p.T115M	NM_144650.2	NP_653251.2	Q8IWW8	HOT_HUMAN	Epithelial(68;0.0321)|all cancers(69;0.0751)|BRCA - Breast invasive adenocarcinoma(89;0.0855)|OV - Ovarian serous cystadenocarcinoma(28;0.226)		5	375	+		Lung NSC(129;0.197)	115					B4DTJ8|Q49A19|Q68CI7|Q6P2B6|Q96MF9	Missense_Mutation	SNP	ENST00000396623.3	37	c.344C>T	CCDS6190.2	.	.	.	.	.	.	.	.	.	.	C	21.7	4.181662	0.78677	.	.	ENSG00000147576	ENST00000523113;ENST00000379385;ENST00000396623;ENST00000415254	T;T;T;T	0.51574	0.7;0.7;0.7;0.7	4.8	4.8	0.61643	Alcohol dehydrogenase, iron-type (1);	0.000000	0.85682	D	0.000000	T	0.79747	0.4499	H	0.96833	3.89	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	D	0.87609	0.2502	10	0.87932	D	0	.	17.8523	0.88751	0.0:1.0:0.0:0.0	.	115	Q8IWW8	HOT_HUMAN	M	50;115;115;67	ENSP00000428055:T50M;ENSP00000368695:T115M;ENSP00000379865:T115M;ENSP00000407115:T67M	ENSP00000368695:T115M	T	+	2	0	ADHFE1	67519528	1.000000	0.71417	0.303000	0.25071	0.068000	0.16541	5.458000	0.66679	2.228000	0.72767	0.591000	0.81541	ACG		0.438	ADHFE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316867.3	NM_144650		4	195	0	0	0	1	0	4	195					T	67356974	C	T	67356974	3	4	137	1	0	0	0	0	1	0	0	0	314	536	19	1	362	1	ADHFE1	8	67356974	Missense_Mutation	SNP	C	TCGA-EJ-A8FS-01A-11D-A34U-08		67356974	79007048	24	6925											
KCNB2	9312	broad.mit.edu	37	chr8	73849587	73849587	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acctgctgccagggatggcaCgctggagtatgccccagttg	7	8	14	12	1	0	0	0	0	0	0	0	2	0	2	4	3	3	5	4	3	1	2			TCGA-EJ-A8FS-01A-11D-A34U-08	TCGA-EJ-A8FS-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d86eaa-de07-46a6-aa08-8906f255ae65	e3c8391f-2734-44a4-b1d4-729d7637f6d6	g.chr8:73849587C>T	ENST00000523207.1	+	3	2585	c.1997C>T	c.(1996-1998)aCg>aTg	p.T666M		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	666					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of smooth muscle contraction (GO:0006940)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)		Dalfampridine(DB06637)	AGGGATGGCACGCTGGAGTAT	0.562																																						ENST00000523207.1																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85						c.(1996-1998)aCg>aTg		potassium voltage-gated channel, Shab-related subfamily, member 2							54	54	54					8																	73849587		2203	4300	6503	SO:0001583	missense	9312				regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding	g.chr8:73849587C>T	U69962	CCDS6209.1	8q13.2	2012-07-05			ENSG00000182674	ENSG00000182674		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6232	protein-coding gene	gene with protein product		607738				9612272, 16382104	Standard	NM_004770		Approved	Kv2.2	uc003xzb.3	Q92953	OTTHUMG00000164498	ENST00000523207.1:c.1997C>T	8.37:g.73849587C>T	ENSP00000430846:p.Thr666Met						p.T666M	NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	Epithelial(68;0.105)		3	2585	+	Breast(64;0.137)		666					Q7Z7D0|Q9BXD3	Missense_Mutation	SNP	ENST00000523207.1	37	c.1997C>T	CCDS6209.1	.	.	.	.	.	.	.	.	.	.	T	0.081	-1.183592	0.01620	.	.	ENSG00000182674	ENST00000523207	T	0.25085	1.82	4.53	-0.951	0.10369	.	6.807010	0.01997	N	0.045941	T	0.23806	0.0576	L	0.48642	1.525	0.09310	N	1	P	0.40602	0.723	B	0.39660	0.306	T	0.12167	-1.0558	10	0.30078	T	0.28	.	5.3601	0.16083	0.1075:0.5522:0.2095:0.1308	.	666	Q92953	KCNB2_HUMAN	M	666	ENSP00000430846:T666M	ENSP00000430846:T666M	T	+	2	0	KCNB2	74012141	0.000000	0.05858	0.000000	0.03702	0.221000	0.24807	0.726000	0.25984	-0.703000	0.05049	-1.178000	0.01721	ACG		0.562	KCNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378998.1	NM_004770		19	31	0	0	0	1	0	19	31					T	73849587	C	T	73849587	3	4	137	1	0	0	0	0	1	0	0	0	8013	536	19	1	2003	1	KCNB2	8	73849587	Missense_Mutation	SNP	C	TCGA-EJ-A8FS-01A-11D-A34U-08	6492613	73849587	72514435	25	6926											
RNF20	56254	broad.mit.edu	37	chr9	104309224	104309225	+	Frame_Shift_Del	DEL	AC	AC	-																															agggaacagcgactcaaccgAcacttagcagaagtcctaga																										TCGA-EJ-A8FS-01A-11D-A34U-08	TCGA-EJ-A8FS-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d86eaa-de07-46a6-aa08-8906f255ae65	e3c8391f-2734-44a4-b1d4-729d7637f6d6	g.chr9:104309224_104309225delAC	ENST00000389120.3	+	7	960_961	c.870_871delAC	c.(868-873)cgacacfs	p.H291fs	AL591377.1_ENST00000584534.1_RNA	NM_019592.5	NP_062538.5	Q5VTR2	BRE1A_HUMAN	ring finger protein 20, E3 ubiquitin protein ligase	291					histone H2B ubiquitination (GO:0033523)|histone monoubiquitination (GO:0010390)|negative regulation of cell migration (GO:0030336)|positive regulation of histone methylation (GO:0031062)|positive regulation of transcription, DNA-templated (GO:0045893)|protein polyubiquitination (GO:0000209)|regulation of transcription, DNA-templated (GO:0006355)|ubiquitin-dependent protein catabolic process (GO:0006511)	HULC complex (GO:0033503)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	chromatin binding (GO:0003682)|histone binding (GO:0042393)|ligase activity (GO:0016874)|p53 binding (GO:0002039)|transcription coactivator activity (GO:0003713)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|endometrium(3)|kidney(6)|large_intestine(7)|lung(23)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	54		all_hematologic(171;8.99e-06)|Acute lymphoblastic leukemia(62;0.000365)|Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;2.88e-19)|STAD - Stomach adenocarcinoma(157;0.00311)		GACTCAACCGACACTTAGCAGA	0.48																																						ENST00000389120.3																			0				breast(3)|endometrium(3)|kidney(6)|large_intestine(7)|lung(23)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						c.(868-873)cgacfs		ring finger protein 20, E3 ubiquitin protein ligase																																				SO:0001589	frameshift_variant	56254				histone H2B ubiquitination|histone monoubiquitination|negative regulation of cell migration|positive regulation of transcription, DNA-dependent|protein polyubiquitination|ubiquitin-dependent protein catabolic process	nucleolus|ubiquitin ligase complex	histone binding|p53 binding|transcription coactivator activity|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr9:104309224_104309225delAC	AF265230	CCDS35084.1	9q22	2012-02-23	2012-02-23	2008-12-12	ENSG00000155827	ENSG00000155827		"RING-type (C3HC4) zinc fingers"	10062	protein-coding gene	gene with protein product	"BRE1 E3 ubiquitin ligase homolog (S. cerevisiae)"	607699	"ring finger protein 20"			16337599, 12876294, 18832071, 19037095	Standard	NM_019592		Approved	FLJ20382, FLJ11189, KAIA2779, BRE1A, hBRE1, BRE1	uc004bbn.3	Q5VTR2	OTTHUMG00000020385	ENST00000389120.3:c.870_871delAC	9.37:g.104309226_104309227delAC	ENSP00000373772:p.His291fs						p.RH290fs	NM_019592.5	NP_062538.5	Q5VTR2	BRE1A_HUMAN		OV - Ovarian serous cystadenocarcinoma(323;2.88e-19)|STAD - Stomach adenocarcinoma(157;0.00311)	7	960_961	+		all_hematologic(171;8.99e-06)|Acute lymphoblastic leukemia(62;0.000365)|Myeloproliferative disorder(762;0.0255)	290					A7MCT5|Q2TB34|Q69YL5|Q6P527|Q8N3J4|Q96JD3|Q9H9Y7|Q9HA51|Q9NUR4|Q9NWQ3|Q9NX83	Frame_Shift_Del	DEL	ENST00000389120.3	37	c.870_871delAC	CCDS35084.1																																																																																				0.48	RNF20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356402.1	NM_019592		31	25						31	25	---	---	---	---	-	104309225	AC	-	104309224	7	5	137	1	0	1	0	1	0	0	0	0	13473	262	10	0	892	0	RNF20	9	104309224	Frame_Shift_Del	DEL	AC	TCGA-EJ-A8FS-01A-11D-A34U-08		104309224	36904207	26	6927											
SMC2	10592	broad.mit.edu	37	chr9	106876995	106876995	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tccagagaagaactggaataGaaattgtgtgaaaggacttg	16	9	12	4	0	0	4	0	1	0	3	1	7	1	6	1	2	1	0	1	2	6	3			TCGA-EJ-A8FS-01A-11D-A34U-08	TCGA-EJ-A8FS-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d86eaa-de07-46a6-aa08-8906f255ae65	e3c8391f-2734-44a4-b1d4-729d7637f6d6	g.chr9:106876995G>C	ENST00000286398.7	+	13	1844	c.1556G>C	c.(1555-1557)aGa>aCa	p.R519T	SMC2_ENST00000374787.3_Missense_Mutation_p.R519T|SMC2_ENST00000374793.3_Missense_Mutation_p.R519T|SMC2_ENST00000303219.8_Missense_Mutation_p.R519T	NM_001042551.1|NM_001265602.1|NM_006444.2	NP_001036016.1|NP_001252531.1|NP_006435.2	O95347	SMC2_HUMAN	structural maintenance of chromosomes 2	519	Flexible hinge.				kinetochore organization (GO:0051383)|meiotic chromosome condensation (GO:0010032)|meiotic chromosome segregation (GO:0045132)|mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	condensed chromosome (GO:0000793)|condensin complex (GO:0000796)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein heterodimerization activity (GO:0046982)			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(14)|ovary(5)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	48						AACTGGAATAGAAATTGTGTG	0.358																																						ENST00000286398.7																			0				breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(14)|ovary(5)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	48						c.(1555-1557)aGa>aCa		structural maintenance of chromosomes 2							106	105	105					9																	106876995		2203	4300	6503	SO:0001583	missense	10592				cell division|mitotic chromosome condensation|symbiosis, encompassing mutualism through parasitism	condensin complex|cytoplasm|nuclear chromosome	ATP binding|protein heterodimerization activity	g.chr9:106876995G>C	AF092563	CCDS35086.1	9q31.1	2008-05-14	2006-07-06	2006-07-06	ENSG00000136824	ENSG00000136824		"Structural maintenance of chromosomes proteins"	14011	protein-coding gene	gene with protein product		605576	"SMC2 (structural maintenance of chromosomes 2, yeast)-like 1", "SMC2 structural maintenance of chromosomes 2-like 1 (yeast)"	SMC2L1		9789013	Standard	NM_006444		Approved	hCAP-E, CAP-E	uc011lvl.2	O95347	OTTHUMG00000020401	ENST00000286398.7:c.1556G>C	9.37:g.106876995G>C	ENSP00000286398:p.Arg519Thr					SMC2_ENST00000374793.3_Missense_Mutation_p.R519T|SMC2_ENST00000303219.8_Missense_Mutation_p.R519T|SMC2_ENST00000374787.3_Missense_Mutation_p.R519T	p.R519T	NM_001042551.1|NM_001265602.1|NM_006444.2	NP_001036016.1|NP_001252531.1|NP_006435.2	O95347	SMC2_HUMAN			13	1844	+			519			Flexible hinge.		Q6IEE0|Q9P1P2	Missense_Mutation	SNP	ENST00000286398.7	37	c.1556G>C	CCDS35086.1	.	.	.	.	.	.	.	.	.	.	G	13.12	2.141567	0.37825	.	.	ENSG00000136824	ENST00000286398;ENST00000374793;ENST00000303219;ENST00000374787	D;D;D;D	0.85629	-2.01;-2.01;-2.01;-2.01	5.45	4.56	0.56223	SMCs flexible hinge (1);RecF/RecN/SMC (1);	0.298027	0.37012	N	0.002296	D	0.86732	0.6003	M	0.87269	2.87	0.41468	D	0.98808	B;B	0.34103	0.437;0.262	B;B	0.39094	0.29;0.151	D	0.86502	0.1804	10	0.54805	T	0.06	-15.9845	7.9296	0.29895	0.0838:0.2542:0.6619:0.0	.	519;519	O95347;Q2KQ72	SMC2_HUMAN;.	T	519	ENSP00000286398:R519T;ENSP00000363925:R519T;ENSP00000306152:R519T;ENSP00000363919:R519T	ENSP00000286398:R519T	R	+	2	0	SMC2	105916816	0.978000	0.34361	1.000000	0.80357	0.998000	0.95712	3.077000	0.50089	1.542000	0.49330	0.655000	0.94253	AGA		0.358	SMC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053470.1			26	54	0	0	0	1	0	26	54					C	106876995	G	C	106876995	3	2	137	1	0	0	0	0	1	0	0	0	14783	942	33	5	1602	5	SMC2	9	106876995	Missense_Mutation	SNP	G	TCGA-EJ-A8FS-01A-11D-A34U-08	2567771	106876995	34336436	27	6928											
ITIH2	3698	broad.mit.edu	37	chr10	7745433	7745433	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctttttcatctgcttcttTctttctgaagtatcaggctt	5	21	6	9	0	6	1	2	1	4	0	6	1	6	1	0	1	2	4	0	1	2	7			TCGA-EJ-A8FS-01A-11D-A34U-08	TCGA-EJ-A8FS-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d86eaa-de07-46a6-aa08-8906f255ae65	e3c8391f-2734-44a4-b1d4-729d7637f6d6	g.chr10:7745433T>A	ENST00000358415.4	+	1	202	c.36T>A	c.(34-36)ttT>ttA	p.F12L	ITIH2_ENST00000480387.1_3'UTR|ITIH2_ENST00000379587.4_Missense_Mutation_p.F12L	NM_002216.2	NP_002207.2	P19823	ITIH2_HUMAN	inter-alpha-trypsin inhibitor heavy chain 2	12					hyaluronan metabolic process (GO:0030212)|negative regulation of endopeptidase activity (GO:0010951)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)			NS(2)|breast(1)|endometrium(8)|kidney(1)|large_intestine(17)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						TCTGCTTCTTTCTTTCTGAAG	0.428																																						ENST00000358415.4																			0				NS(2)|breast(1)|endometrium(8)|kidney(1)|large_intestine(17)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						c.(34-36)ttT>ttA		inter-alpha-trypsin inhibitor heavy chain 2							141	131	135					10																	7745433		2203	4300	6503	SO:0001583	missense	3698				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	g.chr10:7745433T>A	X07173	CCDS31141.1	10p14	2011-10-26	2011-10-26		ENSG00000151655	ENSG00000151655			6167	protein-coding gene	gene with protein product		146640	"inter-alpha (globulin) inhibitor, H2 polypeptide"			1385302, 10100603	Standard	NM_002216		Approved	H2P	uc001ijs.3	P19823	OTTHUMG00000017633	ENST00000358415.4:c.36T>A	10.37:g.7745433T>A	ENSP00000351190:p.Phe12Leu					ITIH2_ENST00000480387.1_3'UTR|ITIH2_ENST00000379587.4_Missense_Mutation_p.F12L	p.F12L	NM_002216.2	NP_002207.2	P19823	ITIH2_HUMAN			1	202	+			12					Q14659|Q15484|Q5T986	Missense_Mutation	SNP	ENST00000358415.4	37	c.36T>A	CCDS31141.1	.	.	.	.	.	.	.	.	.	.	T	10.79	1.450594	0.26074	.	.	ENSG00000151655	ENST00000358415;ENST00000429820;ENST00000379587	T;T;T	0.17691	4.94;2.26;4.9	5.66	0.101	0.14517	.	0.249082	0.41294	N	0.000917	T	0.06554	0.0168	N	0.17474	0.49	0.09310	N	1	B	0.06786	0.001	B	0.10450	0.005	T	0.32268	-0.9913	10	0.10902	T	0.67	-4.8105	2.2496	0.04040	0.1163:0.2404:0.1192:0.5241	.	12	P19823	ITIH2_HUMAN	L	12	ENSP00000351190:F12L;ENSP00000388826:F12L;ENSP00000368906:F12L	ENSP00000351190:F12L	F	+	3	2	ITIH2	7785439	0.144000	0.22641	0.038000	0.18304	0.027000	0.11550	-0.100000	0.10990	0.366000	0.24427	0.533000	0.62120	TTT		0.428	ITIH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046678.2	NM_002216		37	95	0	0	0	1	0	37	95					A	7745433	T	A	7745433	3	1	137	1	0	0	0	0	1	0	0	0	7904	1780	62	5	38	5	ITIH2	10	7745433	Missense_Mutation	SNP	T	TCGA-EJ-A8FS-01A-11D-A34U-08		7745433	127789314	28	6929											
SEC24C	9632	broad.mit.edu	37	chr10	75519789	75519789	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttctcaggcccaccaacatcGctggcttcagcctcaggaag	9	8	9	15	1	3	0	3	0	1	0	5	1	3	1	3	3	2	2	3	3	2	2			TCGA-EJ-A8FS-01A-11D-A34U-08	TCGA-EJ-A8FS-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d86eaa-de07-46a6-aa08-8906f255ae65	e3c8391f-2734-44a4-b1d4-729d7637f6d6	g.chr10:75519789G>A	ENST00000339365.2	+	6	657	c.495G>A	c.(493-495)tcG>tcA	p.S165S	SEC24C_ENST00000535742.1_Intron|SEC24C_ENST00000540668.1_Intron|SEC24C_ENST00000345254.4_Silent_p.S165S|SEC24C_ENST00000411652.2_Silent_p.S23S|SEC24C_ENST00000546025.1_Silent_p.S23S	NM_004922.3	NP_004913.2	P53992	SC24C_HUMAN	SEC24 family member C	165					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular protein metabolic process (GO:0044267)|COPII vesicle coating (GO:0048208)|ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|small molecule metabolic process (GO:0044281)	COPII vesicle coat (GO:0030127)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)	zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(12)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	Prostate(51;0.0112)					CACCAACATCGCTGGCTTCAG	0.537																																						ENST00000339365.2																			0				breast(2)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(12)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32						c.(493-495)tcG>tcA		SEC24 family member C							95	88	91					10																	75519789		2199	4291	6490	SO:0001819	synonymous_variant	9632				COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	protein binding|zinc ion binding	g.chr10:75519789G>A	D38555	CCDS7332.1	10q22	2013-10-21	2013-10-21		ENSG00000176986	ENSG00000176986			10705	protein-coding gene	gene with protein product		607185	"SEC24 (S. cerevisiae) related gene family, member C", "SEC24 family, member C (S. cerevisiae)"			10214955, 7584044	Standard	NM_004922		Approved	KIAA0079	uc001jux.3	P53992	OTTHUMG00000018476	ENST00000339365.2:c.495G>A	10.37:g.75519789G>A						SEC24C_ENST00000345254.4_Silent_p.S165S|SEC24C_ENST00000546025.1_Silent_p.S23S|SEC24C_ENST00000540668.1_Intron|SEC24C_ENST00000535742.1_Intron|SEC24C_ENST00000411652.2_Silent_p.S23S	p.S165S	NM_004922.3	NP_004913.2	P53992	SC24C_HUMAN			6	657	+	Prostate(51;0.0112)		165					B4DZT4|Q8WV25	Silent	SNP	ENST00000339365.2	37	c.495G>A	CCDS7332.1																																																																																				0.537	SEC24C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048679.1			4	93	0	0	0	1	0	4	93					A	75519789	G	A	75519789	2	1	137	1	0	0	0	0	0	0	0	1	13996	1074	38	1		1	SEC24C	10	75519789	Silent	SNP	G	TCGA-EJ-A8FS-01A-11D-A34U-08	67774356	75519789	60014958	29	6930											
FAM178A	55719	broad.mit.edu	37	chr10	102684014	102684014	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tggcaattctggccaccattCtaccaggaatagtgaccaaa	13	9	8	11	0	2	1	0	1	2	0	2	2	2	2	4	3	1	1	4	3	5	4			TCGA-EJ-A8FS-01A-11D-A34U-08	TCGA-EJ-A8FS-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d86eaa-de07-46a6-aa08-8906f255ae65	e3c8391f-2734-44a4-b1d4-729d7637f6d6	g.chr10:102684014C>G	ENST00000238961.4	+	5	1798	c.1256C>G	c.(1255-1257)tCt>tGt	p.S419C	FAM178A_ENST00000370271.3_Missense_Mutation_p.S419C|FAM178A_ENST00000370269.3_Missense_Mutation_p.S419C	NM_018121.3	NP_060591.3	Q8IX21	F178A_HUMAN	family with sequence similarity 178, member A	419						chromatin (GO:0000785)|extracellular space (GO:0005615)|nucleus (GO:0005634)											GGCCACCATTCTACCAGGAAT	0.443																																						ENST00000238961.3																			0											c.(1255-1257)tCt>tGt		family with sequence similarity 178, member A							122	125	124					10																	102684014		2203	4300	6503	SO:0001583	missense	0							g.chr10:102684014C>G	AF460991	CCDS7500.1, CCDS44470.1, CCDS65918.1	10q24.31	2008-07-18	2008-07-18	2008-07-18	ENSG00000119906	ENSG00000119906			17814	protein-coding gene	gene with protein product		610348	"chromosome 10 open reading frame 6"	C10orf6		12459258	Standard	NM_018121		Approved	FLJ10512, FLJ25012	uc001krs.3	Q8IX21	OTTHUMG00000018919	ENST00000238961.4:c.1256C>G	10.37:g.102684014C>G	ENSP00000238961:p.Ser419Cys					FAM178A_ENST00000370269.3_Missense_Mutation_p.S419C|FAM178A_ENST00000370271.3_Missense_Mutation_p.S419C	p.S419C	NM_018121.3	NP_060591.3	Q8IX21	F178A_HUMAN			5	1404	+			419					A8K950|B1AL17|Q5W0L8|Q6GMU6|Q9NPE8	Missense_Mutation	SNP	ENST00000238961.4	37	c.1256C>G	CCDS7500.1	.	.	.	.	.	.	.	.	.	.	C	14.42	2.528932	0.44969	.	.	ENSG00000119906	ENST00000370271;ENST00000238961;ENST00000370269	T;T;T	0.53206	0.63;1.3;1.29	5.1	3.22	0.36961	.	0.306936	0.24481	N	0.038143	T	0.42607	0.1210	N	0.24115	0.695	0.33250	D	0.558348	D;D;D;D	0.61697	0.99;0.969;0.969;0.99	P;P;P;P	0.56474	0.799;0.639;0.639;0.799	T	0.54761	-0.8245	10	0.56958	D	0.05	-5.8774	5.8112	0.18467	0.193:0.7115:0.0:0.0955	.	68;419;419;419	Q96LW0;Q8IX21;B1AL17;B1AL16	.;F178A_HUMAN;.;.	C	419	ENSP00000359294:S419C;ENSP00000238961:S419C;ENSP00000359292:S419C	ENSP00000238961:S419C	S	+	2	0	FAM178A	102674004	0.982000	0.34865	1.000000	0.80357	0.985000	0.73830	0.836000	0.27545	1.504000	0.48704	0.650000	0.86243	TCT		0.443	FAM178A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049897.3			48	65	0	0	0	1	0	48	65					G	102684014	C	G	102684014	3	3	137	1	0	0	0	0	1	0	0	0	5503	913	32	5	1274	5	FAM178A	10	102684014	Missense_Mutation	SNP	C	TCGA-EJ-A8FS-01A-11D-A34U-08	27164225	102684014	32850733	30	6931											
PAK1	5058	broad.mit.edu	37	chr11	77069990	77069992	+	In_Frame_Del	DEL	CAT	CAT	-																															aatcactggtggtggggtagCatcatcatcatcatcatcct																										TCGA-EJ-A8FS-01A-11D-A34U-08	TCGA-EJ-A8FS-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d86eaa-de07-46a6-aa08-8906f255ae65	e3c8391f-2734-44a4-b1d4-729d7637f6d6	g.chr11:77069990_77069992delCAT	ENST00000356341.3	-	6	1079_1081	c.548_550delATG	c.(547-552)gatgct>gct	p.D183del	PAK1_ENST00000530617.1_In_Frame_Del_p.D183del|PAK1_ENST00000528203.1_In_Frame_Del_p.D85del|PAK1_ENST00000278568.4_In_Frame_Del_p.D183del|PAK1_ENST00000525542.1_5'UTR	NM_002576.4	NP_002567.3	Q13153	PAK1_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 1	183	Interaction with CRIPAK.				actin cytoskeleton reorganization (GO:0031532)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|branching morphogenesis of an epithelial tube (GO:0048754)|cellular response to insulin stimulus (GO:0032869)|dendrite development (GO:0016358)|exocytosis (GO:0006887)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|negative regulation of cell proliferation involved in contact inhibition (GO:0060244)|neuromuscular junction development (GO:0007528)|neuron projection morphogenesis (GO:0048812)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of stress fiber assembly (GO:0051496)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|receptor clustering (GO:0043113)|response to hypoxia (GO:0001666)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|wound healing (GO:0042060)	axon (GO:0030424)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|growth cone (GO:0030426)|intercalated disc (GO:0014704)|nuclear membrane (GO:0031965)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ruffle (GO:0001726)|Z disc (GO:0030018)	ATP binding (GO:0005524)|collagen binding (GO:0005518)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(13)|skin(2)|stomach(1)	29	all_cancers(14;1.75e-18)					GGTGGGGTAGcatcatcatcatc	0.478																																						ENST00000356341.3																			0				NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(13)|skin(2)|stomach(1)	29						c.(547-552)gct>g		p21 protein (Cdc42/Rac)-activated kinase 1			,	392,0,3872		189,0,14,0,0,1929					,	3.9	1		dbSNP_134	110	824,25,7405		391,0,42,0,25,3669	no	codingComplex,codingComplex	PAK1	NM_002576.4,NM_001128620.1	,	580,0,56,0,25,5598	A1A1,A1A2,A1R,A2A2,A2R,RR		10.2859,9.1932,9.9137	,	,		1216,25,11277				SO:0001651	inframe_deletion	5058				apoptosis|axon guidance|cytoskeleton organization|ER-nucleus signaling pathway|positive regulation of JUN kinase activity|positive regulation of peptidyl-serine phosphorylation|protein autophosphorylation|T cell costimulation|T cell receptor signaling pathway	cytosol|focal adhesion|Golgi apparatus	ATP binding|collagen binding|protein binding|protein serine/threonine kinase activity	g.chr11:77069990_77069992delCAT	U51120	CCDS8250.1, CCDS44687.1	11q13-q14	2008-06-17	2008-06-17						8590	protein-coding gene	gene with protein product	"STE20 homolog, yeast"	602590	"p21/Cdc42/Rac1-activated kinase 1 (yeast Ste20-related)", "p21/Cdc42/Rac1-activated kinase 1 (STE20 homolog, yeast)"			8805275, 9533029	Standard	NM_002576		Approved		uc001oyg.4	Q13153		ENST00000356341.3:c.548_550delATG	11.37:g.77069999_77070001delCAT	ENSP00000348696:p.Asp183del					PAK1_ENST00000278568.4_In_Frame_Del_p.DA183del|PAK1_ENST00000525542.1_5'UTR|PAK1_ENST00000530617.1_In_Frame_Del_p.DA183del|PAK1_ENST00000528203.1_In_Frame_Del_p.DA85del	p.DA183del	NM_002576.4	NP_002567.3	Q13153	PAK1_HUMAN			6	1079_1081	-	all_cancers(14;1.75e-18)		183			Interaction with CRIPAK.		O75561|Q13567|Q32M53|Q32M54|Q86W79	In_Frame_Del	DEL	ENST00000356341.3	37	c.548_550delATG	CCDS8250.1																																																																																				0.478	PAK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382083.2	NM_002576		8	170						8	170	---	---	---	---	-	77069992	CAT	-	77069990	7	5	137	1	0	1	0	1	0	0	0	0	11399	710	25	0	1180	0	PAK1	11	77069990	In_Frame_Del	DEL	CAT	TCGA-EJ-A8FS-01A-11D-A34U-08		77069990	57936526	31	6932											
PPP1R13B	23368	broad.mit.edu	37	chr14	104212714	104212714	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggccaggaccactcaccggaTttggatcttccatgagcagc	9	8	11	13	1	2	1	1	1	1	0	3	4	3	4	4	4	2	1	4	4	0	2			TCGA-EJ-A8FS-01A-11D-A34U-08	TCGA-EJ-A8FS-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d86eaa-de07-46a6-aa08-8906f255ae65	e3c8391f-2734-44a4-b1d4-729d7637f6d6	g.chr14:104212714T>C	ENST00000202556.9	-	9	1428	c.1146A>G	c.(1144-1146)aaA>aaG	p.K382K	PPP1R13B_ENST00000555391.1_5'Flank|PPP1R13B_ENST00000423488.2_5'UTR	NM_015316.2	NP_056131.2	Q96KQ4	ASPP1_HUMAN	protein phosphatase 1, regulatory subunit 13B	382					intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|negative regulation of cell cycle (GO:0045786)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				endometrium(6)|kidney(2)|large_intestine(7)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)	33		all_cancers(154;0.173)|all_epithelial(191;0.131)|Melanoma(154;0.155)				ACTCACCGGATTTGGATCTTC	0.607																																						ENST00000202556.9																			0				endometrium(6)|kidney(2)|large_intestine(7)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)	33						c.(1144-1146)aaA>aaG		protein phosphatase 1, regulatory subunit 13B							56	63	61					14																	104212714		1895	4110	6005	SO:0001819	synonymous_variant	23368				apoptosis|induction of apoptosis|negative regulation of cell cycle	cytoplasm|nucleus|plasma membrane	protein binding	g.chr14:104212714T>C	AB018314	CCDS41997.1	14q32.33	2013-01-10	2011-10-04		ENSG00000088808	ENSG00000088808		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "Ankyrin repeat domain containing"	14950	protein-coding gene	gene with protein product		606455	"protein phosphatase 1, regulatory (inhibitor) subunit 13B"			9872452	Standard	NM_015316		Approved	p53BP2-like, KIAA0771, p85, ASPP1	uc001yof.1	Q96KQ4	OTTHUMG00000171647	ENST00000202556.9:c.1146A>G	14.37:g.104212714T>C						PPP1R13B_ENST00000423488.2_5'UTR	p.K382K	NM_015316.2	NP_056131.2	Q96KQ4	ASPP1_HUMAN			9	1428	-		all_cancers(154;0.173)|all_epithelial(191;0.131)|Melanoma(154;0.155)	382					B2RMX5|O94870	Silent	SNP	ENST00000202556.9	37	c.1146A>G	CCDS41997.1																																																																																				0.607	PPP1R13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414591.1	NM_015316		15	17	0	0	0	1	0	15	17					C	104212714	T	C	104212714	2	2	137	1	0	0	0	0	0	0	0	1	12357	1490	52	4		4	PPP1R13B	14	104212714	Silent	SNP	T	TCGA-EJ-A8FS-01A-11D-A34U-08		104212714	3136826	32	6933											
EPB42	2038	broad.mit.edu	37	chr15	43500934	43500934	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgccctgtgctgaggcaaacGtggtcaccacgcgggcaggg	7	6	16	12	3	1	1	1	1	0	0	1	1	1	1	2	4	3	3	2	4	1	0			TCGA-EJ-A8FS-01A-11D-A34U-08	TCGA-EJ-A8FS-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d86eaa-de07-46a6-aa08-8906f255ae65	e3c8391f-2734-44a4-b1d4-729d7637f6d6	g.chr15:43500934G>A	ENST00000441366.2	-	7	1097	c.872C>T	c.(871-873)aCg>aTg	p.T291M	EPB42_ENST00000300215.3_Missense_Mutation_p.T321M|EPB42_ENST00000563128.1_5'Flank|EPB42_ENST00000540029.1_Missense_Mutation_p.T213M	NM_000119.2|NM_001114134.1	NP_000110.2|NP_001107606.1	P16452	EPB42_HUMAN	erythrocyte membrane protein band 4.2	291					cell morphogenesis (GO:0000902)|erythrocyte maturation (GO:0043249)|hemoglobin metabolic process (GO:0020027)|iron ion homeostasis (GO:0055072)|peptide cross-linking (GO:0018149)|regulation of cell shape (GO:0008360)|spleen development (GO:0048536)	cortical cytoskeleton (GO:0030863)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)|structural constituent of cytoskeleton (GO:0005200)			endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;8.7e-07)		TGAGGCAAACGTGGTCACCAC	0.612																																						ENST00000300215.3																			0				endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						c.(961-963)aCg>aTg		erythrocyte membrane protein band 4.2							69	71	70					15																	43500934		2203	4299	6502	SO:0001583	missense	2038				erythrocyte maturation|peptide cross-linking|regulation of cell shape	cytoplasm|cytoskeleton|plasma membrane	ATP binding|protein binding|protein-glutamine gamma-glutamyltransferase activity|structural constituent of cytoskeleton	g.chr15:43500934G>A	M60298	CCDS10093.1, CCDS45249.1	15q15-q21	2013-05-02			ENSG00000166947	ENSG00000166947		"Transglutaminases"	3381	protein-coding gene	gene with protein product	"Erythrocyte surface protein band 4.2"	177070				1284644	Standard	NM_000119		Approved	PA, MGC116735, MGC116737	uc001zrb.4	P16452	OTTHUMG00000130701	ENST00000441366.2:c.872C>T	15.37:g.43500934G>A	ENSP00000396616:p.Thr291Met					EPB42_ENST00000540029.1_Missense_Mutation_p.T213M|EPB42_ENST00000441366.2_Missense_Mutation_p.T291M	p.T321M			P16452	EPB42_HUMAN		GBM - Glioblastoma multiforme(94;8.7e-07)	7	1419	-		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)	291					Q4KKX0|Q4VB97	Missense_Mutation	SNP	ENST00000441366.2	37	c.962C>T	CCDS45249.1	.	.	.	.	.	.	.	.	.	.	G	7.565	0.665570	0.14710	.	.	ENSG00000166947	ENST00000300215;ENST00000540029;ENST00000441366;ENST00000397027	T;T;T	0.52295	0.67;0.67;0.67	5.15	2.88	0.33553	Transglutaminase-like (2);	0.269168	0.41396	N	0.000899	T	0.37732	0.1014	M	0.65975	2.015	0.21290	N	0.99974	P;P;P;P	0.45212	0.789;0.853;0.823;0.853	B;B;B;B	0.37198	0.116;0.243;0.11;0.243	T	0.47471	-0.9115	10	0.87932	D	0	-5.4873	3.7516	0.08569	0.2152:0.0:0.5964:0.1885	.	213;291;321;291	F5H563;B7Z4C3;P16452-2;P16452	.;.;.;EPB42_HUMAN	M	321;213;291;291	ENSP00000300215:T321M;ENSP00000444699:T213M;ENSP00000396616:T291M	ENSP00000300215:T321M	T	-	2	0	EPB42	41288226	0.508000	0.26154	0.208000	0.23602	0.047000	0.14425	0.755000	0.26405	1.238000	0.43771	0.561000	0.74099	ACG		0.612	EPB42-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432219.1	NM_000119		31	54	0	0	0	1	0	31	54					A	43500934	G	A	43500934	3	1	137	1	0	0	0	0	1	0	0	0	5158	1145	40	1	1231	1	EPB42	15	43500934	Missense_Mutation	SNP	G	TCGA-EJ-A8FS-01A-11D-A34U-08		43500934	59030458	33	6934											
TRAP1	10131	broad.mit.edu	37	chr16	3713497	3713497	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtctccacagagatcagctTcttcttgtcaaactcacgaa	11	11	6	13	2	6	1	3	0	3	1	7	3	6	1	1	0	2	1	1	0	2	3	rs143144399	byFrequency	TCGA-EJ-A8FS-01A-11D-A34U-08	TCGA-EJ-A8FS-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d86eaa-de07-46a6-aa08-8906f255ae65	e3c8391f-2734-44a4-b1d4-729d7637f6d6	g.chr16:3713497T>G	ENST00000246957.5	-	14	1724	c.1636A>C	c.(1636-1638)Aag>Cag	p.K546Q	TRAP1_ENST00000538171.1_Missense_Mutation_p.K493Q|TRAP1_ENST00000575671.1_Missense_Mutation_p.K337Q|DNASE1_ENST00000575152.1_3'UTR|DNASE1_ENST00000414110.2_3'UTR|TRAP1_ENST00000573872.1_5'Flank	NM_016292.2	NP_057376.2	Q12931	TRAP1_HUMAN	TNF receptor-associated protein 1	546					chaperone-mediated protein folding (GO:0061077)|negative regulation of cellular respiration (GO:1901856)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|regulation of reactive oxygen species metabolic process (GO:2000377)|response to stress (GO:0006950)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|tumor necrosis factor receptor binding (GO:0005164)			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19		Ovarian(90;0.0261)				GAGATCAGCTTCTTCTTGTCA	0.552													T|||	2	0.000399361	0	0	5008	,	,		19766	0.002		0	False		,,,				2504	0					ENST00000575671.1																			0				central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						c.(1009-1011)Aag>Cag		TNF receptor-associated protein 1		T	GLN/LYS	1,4393	2.1+/-5.4	0,1,2196	139	128	132		1636	2.3	1	16	dbSNP_134	132	1,8599	1.2+/-3.3	0,1,4299	yes	missense	TRAP1	NM_016292.2	53	0,2,6495	GG,GT,TT		0.0116,0.0228,0.0154	benign	546/705	3713497	2,12992	2197	4300	6497	SO:0001583	missense	10131				cellular response to oxidative stress|protein folding	mitochondrion	ATP binding|tumor necrosis factor receptor binding|unfolded protein binding	g.chr16:3713497T>G	AF154108	CCDS10508.1, CCDS61824.1	16p13.3	2011-09-02			ENSG00000126602	ENSG00000126602		"Heat shock proteins / HSPC"	16264	protein-coding gene	gene with protein product		606219				10652318, 7876093	Standard	NM_016292		Approved	HSP75, HSP90L	uc002cvt.4	Q12931	OTTHUMG00000129427	ENST00000246957.5:c.1636A>C	16.37:g.3713497T>G	ENSP00000246957:p.Lys546Gln					TRAP1_ENST00000246957.5_Missense_Mutation_p.K546Q|DNASE1_ENST00000575152.1_3'UTR|TRAP1_ENST00000538171.1_Missense_Mutation_p.K493Q|DNASE1_ENST00000414110.2_3'UTR	p.K337Q			Q12931	TRAP1_HUMAN			9	1738	-		Ovarian(90;0.0261)	546					B4DR68|D3DUC8|F5H897|O43642|O75235|Q9UHL5	Missense_Mutation	SNP	ENST00000246957.5	37	c.1009A>C	CCDS10508.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	T	5.083	0.200915	0.09652	2.28E-4	1.16E-4	ENSG00000126602	ENST00000246957;ENST00000538171	T;T	0.11930	2.73;2.73	5.83	2.28	0.28536	Ribosomal protein S5 domain 2-type fold (1);	0.161204	0.56097	N	0.000039	T	0.08980	0.0222	L	0.35341	1.055	0.58432	D	0.999997	B;B	0.12630	0.004;0.006	B;B	0.18871	0.013;0.023	T	0.27673	-1.0067	10	0.08381	T	0.77	-36.1249	9.6988	0.40173	0.0:0.0625:0.2228:0.7148	.	493;546	F5H897;Q12931	.;TRAP1_HUMAN	Q	546;493	ENSP00000246957:K546Q;ENSP00000442070:K493Q	ENSP00000246957:K546Q	K	-	1	0	TRAP1	3653498	1.000000	0.71417	0.997000	0.53966	0.020000	0.10135	3.939000	0.56591	-0.116000	0.11893	-3.431000	0.00037	AAG		0.552	TRAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251586.2	NM_016292		22	53	0	0	0	1	0	22	53					G	3713497	T	G	3713497	3	3	137	1	0	0	0	0	1	0	0	0	16452	1792	62	5	498	5	TRAP1	16	3713497	Missense_Mutation	SNP	T	TCGA-EJ-A8FS-01A-11D-A34U-08		3713497	86641256	34	6935											
MYH11	4629	broad.mit.edu	37	chr16	15808890	15808890	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ctgggactcctcctctgcctCctccagctgcctcttgagct	3	12	8	18	0	2	1	0	1	2	0	6	2	6	2	6	1	4	2	6	1	0	1			TCGA-EJ-A8FS-01A-11D-A34U-08	TCGA-EJ-A8FS-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d86eaa-de07-46a6-aa08-8906f255ae65	e3c8391f-2734-44a4-b1d4-729d7637f6d6	g.chr16:15808890C>T	ENST00000300036.5	-	40	5771	c.5662G>A	c.(5662-5664)Gag>Aag	p.E1888K	NDE1_ENST00000396354.1_Intron|MYH11_ENST00000396324.3_Missense_Mutation_p.E1895K|NDE1_ENST00000342673.5_Intron|MYH11_ENST00000576790.2_Missense_Mutation_p.E1888K|NDE1_ENST00000396355.1_Intron|MYH11_ENST00000452625.2_Missense_Mutation_p.E1895K	NM_002474.2	NP_002465.1	P35749	MYH11_HUMAN	myosin, heavy chain 11, smooth muscle	1888					axon guidance (GO:0007411)|cardiac muscle fiber development (GO:0048739)|elastic fiber assembly (GO:0048251)|muscle contraction (GO:0006936)|skeletal muscle myosin thick filament assembly (GO:0030241)|smooth muscle contraction (GO:0006939)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|smooth muscle contractile fiber (GO:0030485)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|motor activity (GO:0003774)|structural constituent of muscle (GO:0008307)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						TCCTCTGCCTCCTCCAGCTGC	0.667			T	CBFB	AML																																	ENST00000338282.6				Dom	yes		16	16p13.13-p13.12	4629	T	"myosin, heavy polypeptide 11, smooth muscle"			L	CBFB		AML		0				NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						c.(5662-5664)Gag>Aag		myosin, heavy chain 11, smooth muscle							124	118	120					16																	15808890		2197	4300	6497	SO:0001583	missense	4629				axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction	cytosol|melanosome|muscle myosin complex|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle	g.chr16:15808890C>T	X69292	CCDS10565.1, CCDS10566.1, CCDS45423.1, CCDS45424.1	16p13.11	2011-09-27	2006-09-29		ENSG00000133392	ENSG00000133392		"Myosins / Myosin superfamily : Class II"	7569	protein-coding gene	gene with protein product		160745	"myosin, heavy polypeptide 11, smooth muscle"			7684189	Standard	NM_001040113		Approved	SMMHC, SMHC	uc002ddx.3	P35749	OTTHUMG00000129935	ENST00000300036.5:c.5662G>A	16.37:g.15808890C>T	ENSP00000300036:p.Glu1888Lys					MYH11_ENST00000396324.3_Missense_Mutation_p.E1895K|MYH11_ENST00000300036.5_Missense_Mutation_p.E1888K|MYH11_ENST00000576790.1_Missense_Mutation_p.E1888K|NDE1_ENST00000396355.1_Intron|NDE1_ENST00000396354.1_Intron|NDE1_ENST00000342673.5_Intron|MYH11_ENST00000452625.2_Missense_Mutation_p.E1895K	p.E1888K	NM_022844.2	NP_074035.1	P35749	MYH11_HUMAN			40	5768	-			1888					D2JYH7|O00396|O94944|P78422|Q3MIV8|Q3MNF0|Q3MNF1	Missense_Mutation	SNP	ENST00000300036.5	37	c.5662G>A	CCDS10565.1	.	.	.	.	.	.	.	.	.	.	C	34	5.346841	0.95807	.	.	ENSG00000133392	ENST00000300036;ENST00000338282;ENST00000396320;ENST00000396324;ENST00000452625	D;D;D;D	0.85339	-1.97;-1.97;-1.97;-1.97	4.64	4.64	0.57946	Myosin tail (1);	0.000000	0.85682	D	0.000000	D	0.94125	0.8116	M	0.94063	3.49	0.80722	D	1	D;D;D;D;D	0.76494	0.999;0.999;0.999;0.999;0.994	D;D;D;D;D	0.74674	0.984;0.984;0.984;0.984;0.973	D	0.95784	0.8819	10	0.87932	D	0	.	16.4871	0.84187	0.0:1.0:0.0:0.0	.	1895;1888;1895;1888;1895	B1PS43;P35749;Q3MNF1;Q3MIV8;Q3MNF0	.;MYH11_HUMAN;.;.;.	K	1888;1888;1895;1895;1895	ENSP00000300036:E1888K;ENSP00000345136:E1888K;ENSP00000379616:E1895K;ENSP00000407821:E1895K	ENSP00000300036:E1888K	E	-	1	0	MYH11	15716391	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.562000	0.82300	2.110000	0.64415	0.455000	0.32223	GAG		0.667	MYH11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252192.2	NM_001040113		62	179	0	0	0	1	0	62	179					T	15808890	C	T	15808890	3	4	137	1	0	0	0	0	1	0	0	0	10031	864	30	3	299	3	MYH11	16	15808890	Missense_Mutation	SNP	C	TCGA-EJ-A8FS-01A-11D-A34U-08	12095393	15808890	74545863	35	6936											
SPOP	8405	broad.mit.edu	37	chr17	47696643	47696643	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cattcaggatggagaatttgAattttgcccgaacttcactc	11	13	8	9	1	2	2	2	1	0	1	3	5	2	3	1	2	2	0	1	2	3	5	rs193920894		TCGA-EJ-A8FS-01A-11D-A34U-08	TCGA-EJ-A8FS-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d86eaa-de07-46a6-aa08-8906f255ae65	e3c8391f-2734-44a4-b1d4-729d7637f6d6	g.chr17:47696643A>G	ENST00000393328.2	-	5	670	c.305T>C	c.(304-306)tTc>tCc	p.F102S	SPOP_ENST00000513080.1_5'Flank|SPOP_ENST00000393331.3_Missense_Mutation_p.F102S|SPOP_ENST00000503676.1_Missense_Mutation_p.F102S|SPOP_ENST00000347630.2_Missense_Mutation_p.F102S|SPOP_ENST00000504102.1_Missense_Mutation_p.F102S	NM_003563.3	NP_003554.1	O43791	SPOP_HUMAN	speckle-type POZ protein	102	MATH. {ECO:0000255|PROSITE- ProRule:PRU00129}.|Required for nuclear localization.				glucose homeostasis (GO:0042593)|positive regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902237)|positive regulation of type B pancreatic cell apoptotic process (GO:2000676)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	Cul3-RING ubiquitin ligase complex (GO:0031463)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	ubiquitin protein ligase binding (GO:0031625)	p.F102C(2)		endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						GGAGAATTTGAATTTTGCCCG	0.408										Prostate(2;0.17)																												ENST00000393331.3																			2	Substitution - Missense(2)	p.F102C(2)	prostate(2)	endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						c.(304-306)tTc>tCc		speckle-type POZ protein							147	136	140					17																	47696643		2203	4300	6503	SO:0001583	missense	8405				mRNA processing	nucleus	protein binding	g.chr17:47696643A>G	AJ000644	CCDS11551.1	17q21.33	2013-01-09			ENSG00000121067	ENSG00000121067		"BTB/POZ domain containing"	11254	protein-coding gene	gene with protein product		602650				9414087	Standard	NM_001007227		Approved	TEF2, BTBD32	uc002ipg.3	O43791	OTTHUMG00000161496	ENST00000393328.2:c.305T>C	17.37:g.47696643A>G	ENSP00000377001:p.Phe102Ser	Prostate(2;0.17)				SPOP_ENST00000347630.2_Missense_Mutation_p.F102S|SPOP_ENST00000504102.1_Missense_Mutation_p.F102S|SPOP_ENST00000503676.1_Missense_Mutation_p.F102S|SPOP_ENST00000393328.2_Missense_Mutation_p.F102S	p.F102S	NM_001007226.1|NM_001007227.1	NP_001007227.1|NP_001007228.1	O43791	SPOP_HUMAN			6	775	-			102			MATH.|Required for nuclear localization.		B2R6S3|D3DTW7|Q53HJ1	Missense_Mutation	SNP	ENST00000393328.2	37	c.305T>C	CCDS11551.1	.	.	.	.	.	.	.	.	.	.	A	26.1	4.706704	0.89018	.	.	ENSG00000121067	ENST00000393328;ENST00000393331;ENST00000347630;ENST00000504102;ENST00000503676;ENST00000513872;ENST00000509079;ENST00000505581;ENST00000507970;ENST00000514121;ENST00000515508	T;T;T;T;T;T;T;T;T;T	0.68765	-0.35;-0.35;-0.35;-0.35;-0.35;-0.35;-0.35;-0.35;-0.35;-0.35	5.52	5.52	0.82312	TRAF-type (1);TRAF-like (1);MATH (3);	0.000000	0.85682	D	0.000000	D	0.83445	0.5256	M	0.85462	2.755	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.86271	0.1661	10	0.87932	D	0	-11.8278	15.4649	0.75390	1.0:0.0:0.0:0.0	.	102	O43791	SPOP_HUMAN	S	102;102;102;102;102;55;102;102;102;102;102	ENSP00000377001:F102S;ENSP00000377004:F102S;ENSP00000240327:F102S;ENSP00000425905:F102S;ENSP00000420908:F102S;ENSP00000426986:F102S;ENSP00000420960:F102S;ENSP00000426262:F102S;ENSP00000424119:F102S;ENSP00000426537:F102S	ENSP00000240327:F102S	F	-	2	0	SPOP	45051642	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.135000	0.94478	2.317000	0.78254	0.460000	0.39030	TTC		0.408	SPOP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365154.2	NM_003563		55	72	0	0	0	1	0	55	72					G	47696643	A	G	47696643	3	3	137	1	0	0	0	0	1	0	0	0	15083	246	9	4	847	4	SPOP	17	47696643	Missense_Mutation	SNP	A	TCGA-EJ-A8FS-01A-11D-A34U-08		47696643	33498567	36	6937											
EPB41L3	23136	broad.mit.edu	37	chr18	5428394	5428394	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gccaggcaaatctgtttattCgcagccggtcgcgatatatc	9	11	10	11	4	1	0	0	0	1	0	4	1	1	0	2	2	1	3	2	2	4	5			TCGA-EJ-A8FS-01A-11D-A34U-08	TCGA-EJ-A8FS-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d86eaa-de07-46a6-aa08-8906f255ae65	e3c8391f-2734-44a4-b1d4-729d7637f6d6	g.chr18:5428394C>T	ENST00000341928.2	-	9	1323	c.983G>A	c.(982-984)cGa>cAa	p.R328Q	EPB41L3_ENST00000540638.2_Missense_Mutation_p.R328Q|EPB41L3_ENST00000342933.3_Missense_Mutation_p.R328Q|EPB41L3_ENST00000400111.3_Missense_Mutation_p.R328Q|EPB41L3_ENST00000542652.2_5'UTR|EPB41L3_ENST00000544123.1_Missense_Mutation_p.R328Q	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	328	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				apoptotic process (GO:0006915)|cortical actin cytoskeleton organization (GO:0030866)|cortical cytoskeleton organization (GO:0030865)|cytoskeletal anchoring at plasma membrane (GO:0007016)|myelin maintenance (GO:0043217)|neuron projection morphogenesis (GO:0048812)|paranodal junction assembly (GO:0030913)|protein localization to juxtaparanode region of axon (GO:0071205)|protein localization to paranode region of axon (GO:0002175)|protein localization to plasma membrane (GO:0072659)|regulation of cell shape (GO:0008360)	axolemma (GO:0030673)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)|juxtaparanode region of axon (GO:0044224)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						TCTGTTTATTCGCAGCCGGTC	0.418																																						ENST00000341928.2																			0				breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						c.(982-984)cGa>cAa		erythrocyte membrane protein band 4.1-like 3							144	148	146					18																	5428394		2203	4300	6503	SO:0001583	missense	23136				cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity	g.chr18:5428394C>T	AB023204	CCDS11838.1, CCDS62381.1, CCDS62382.1	18p11.32	2006-06-28			ENSG00000082397	ENSG00000082397			3380	protein-coding gene	gene with protein product		605331				9828140, 9892180	Standard	NM_012307		Approved	DAL1, KIAA0987, 4.1B	uc002kmt.1	Q9Y2J2	OTTHUMG00000131562	ENST00000341928.2:c.983G>A	18.37:g.5428394C>T	ENSP00000343158:p.Arg328Gln					EPB41L3_ENST00000542652.2_5'UTR|EPB41L3_ENST00000540638.2_Missense_Mutation_p.R328Q|EPB41L3_ENST00000544123.1_Missense_Mutation_p.R328Q|EPB41L3_ENST00000400111.3_Missense_Mutation_p.R328Q|EPB41L3_ENST00000342933.3_Missense_Mutation_p.R328Q	p.R328Q	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN			9	1323	-			328			FERM.		B7Z4I5|F5GX05|O95713|Q9BRP5	Missense_Mutation	SNP	ENST00000341928.2	37	c.983G>A	CCDS11838.1	.	.	.	.	.	.	.	.	.	.	C	36	5.949500	0.97134	.	.	ENSG00000082397	ENST00000341928;ENST00000540638;ENST00000544123;ENST00000545076;ENST00000342933;ENST00000400111	D;D;D;D	0.87412	-2.25;-2.25;-2.25;-2.25	5.31	5.31	0.75309	FERM, C-terminal PH-like domain (1);FERM domain (1);Pleckstrin homology-type (1);	0.000000	0.85682	D	0.000000	D	0.92658	0.7667	M	0.63208	1.945	0.80722	D	1	D;D;D;D;D	0.89917	0.999;0.993;1.0;1.0;0.983	D;P;D;D;P	0.79108	0.959;0.703;0.992;0.979;0.79	D	0.93072	0.6483	10	0.66056	D	0.02	.	18.973	0.92722	0.0:1.0:0.0:0.0	.	328;328;219;328;328	F5GX05;Q9Y2J2-3;A8K968;Q9Y2J2-2;Q9Y2J2	.;.;.;.;E41L3_HUMAN	Q	328;219;328;219;328;328	ENSP00000343158:R328Q;ENSP00000441174:R328Q;ENSP00000341138:R328Q;ENSP00000382981:R328Q	ENSP00000343158:R328Q	R	-	2	0	EPB41L3	5418394	1.000000	0.71417	0.954000	0.39281	0.981000	0.71138	7.772000	0.85439	2.455000	0.83008	0.655000	0.94253	CGA		0.418	EPB41L3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254424.1	NM_012307		52	103	0	0	0	1	0	52	103					T	5428394	C	T	5428394	3	4	137	1	0	0	0	0	1	0	0	0	5154	884	31	2	2336	2	EPB41L3	18	5428394	Missense_Mutation	SNP	C	TCGA-EJ-A8FS-01A-11D-A34U-08		5428394	72648854	37	6938											
ALPK2	115701	broad.mit.edu	37	chr18	56246451	56246451	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cataagtcctttccccccacTctcttgtcagctgccgtctc	5	13	5	18	1	3	0	1	0	2	0	7	0	5	0	5	0	2	1	5	0	1	3			TCGA-EJ-A8FS-01A-11D-A34U-08	TCGA-EJ-A8FS-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d86eaa-de07-46a6-aa08-8906f255ae65	e3c8391f-2734-44a4-b1d4-729d7637f6d6	g.chr18:56246451T>A	ENST00000361673.3	-	4	1770	c.1557A>T	c.(1555-1557)agA>agT	p.R519S	ALPK2_ENST00000587399.1_5'Flank	NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	519						nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						TTCCCCCCACTCTCTTGTCAG	0.522											OREG0025011	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000361673.3																			0				NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						c.(1555-1557)agA>agT		alpha-kinase 2							217	217	217					18																	56246451		2203	4300	6503	SO:0001583	missense	115701						ATP binding|protein serine/threonine kinase activity	g.chr18:56246451T>A	AY044450	CCDS11966.2	18q21.31	2013-01-11			ENSG00000198796	ENSG00000198796		"Immunoglobulin superfamily / I-set domain containing"	20565	protein-coding gene	gene with protein product	"heart alpha-kinase"					10021370	Standard	NM_052947		Approved	HAK	uc002lhj.4	Q86TB3	OTTHUMG00000132755	ENST00000361673.3:c.1557A>T	18.37:g.56246451T>A	ENSP00000354991:p.Arg519Ser		OREG0025011	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1014		p.R519S	NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN			4	1770	-			519					Q6ZUX0|Q8NAT5|Q96L95	Missense_Mutation	SNP	ENST00000361673.3	37	c.1557A>T	CCDS11966.2	.	.	.	.	.	.	.	.	.	.	T	15.45	2.838266	0.51057	.	.	ENSG00000198796	ENST00000361673	T	0.52057	0.68	5.14	1.03	0.20045	.	1.544590	0.04399	N	0.363947	T	0.35913	0.0948	L	0.41824	1.3	0.09310	N	1	B	0.15141	0.012	B	0.14578	0.011	T	0.20571	-1.0271	10	0.37606	T	0.19	-1.5845	1.1691	0.01822	0.1869:0.1819:0.1178:0.5134	.	519	Q86TB3	ALPK2_HUMAN	S	519	ENSP00000354991:R519S	ENSP00000354991:R519S	R	-	3	2	ALPK2	54397431	0.000000	0.05858	0.001000	0.08648	0.005000	0.04900	-0.025000	0.12413	0.277000	0.22141	0.533000	0.62120	AGA		0.522	ALPK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256126.1	NM_052947		48	105	0	0	0	1	0	48	105					A	56246451	T	A	56246451	3	1	137	1	0	0	0	0	1	0	0	0	545	1548	54	5	4995	5	ALPK2	18	56246451	Missense_Mutation	SNP	T	TCGA-EJ-A8FS-01A-11D-A34U-08	50818057	56246451	21830797	38	6939											
DNASE2	1777	broad.mit.edu	37	chr19	12986907	12986907	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agagggctggcagctgggcaCacagtgtgcccccaccccgt	7	5	14	15	1	0	1	0	0	0	1	0	1	0	1	4	3	2	4	4	3	0	0			TCGA-EJ-A8FS-01A-11D-A34U-08	TCGA-EJ-A8FS-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d86eaa-de07-46a6-aa08-8906f255ae65	e3c8391f-2734-44a4-b1d4-729d7637f6d6	g.chr19:12986907C>A	ENST00000222219.3	-	6	1072	c.980G>T	c.(979-981)tGt>tTt	p.C327F	DNASE2_ENST00000538460.1_Missense_Mutation_p.C272F	NM_001375.2	NP_001366.1	O00115	DNS2A_HUMAN	deoxyribonuclease II, lysosomal	327					apoptotic DNA fragmentation (GO:0006309)|DNA metabolic process (GO:0006259)|erythrocyte differentiation (GO:0030218)	extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|lysosome (GO:0005764)	deoxyribonuclease II activity (GO:0004531)|DNA binding (GO:0003677)			breast(1)|large_intestine(1)|lung(4)|ovary(1)	7						CAGCTGGGCACACAGTGTGCC	0.602																																						ENST00000222219.3																			0				breast(1)|large_intestine(1)|lung(4)|ovary(1)	7						c.(979-981)tGt>tTt		deoxyribonuclease II, lysosomal							56	54	54					19																	12986907		2203	4300	6503	SO:0001583	missense	1777				apoptosis	lysosome	deoxyribonuclease II activity|DNA binding|protein binding	g.chr19:12986907C>A	AF045937	CCDS12284.1	19p13.2	2012-10-02			ENSG00000105612	ENSG00000105612	3.1.22.1		2960	protein-coding gene	gene with protein product		126350		DNL, DNL2		1586130	Standard	NM_001375		Approved		uc002mvn.1	O00115		ENST00000222219.3:c.980G>T	19.37:g.12986907C>A	ENSP00000222219:p.Cys327Phe					DNASE2_ENST00000538460.1_Missense_Mutation_p.C272F	p.C327F	NM_001375.2	NP_001366.1	O00115	DNS2A_HUMAN			6	1072	-			327					B2RD06|B7Z4K6|O43910	Missense_Mutation	SNP	ENST00000222219.3	37	c.980G>T	CCDS12284.1	.	.	.	.	.	.	.	.	.	.	C	19.96	3.923879	0.73213	.	.	ENSG00000105612	ENST00000222219;ENST00000538460	T;T	0.26518	1.73;1.73	4.99	4.99	0.66335	.	0.000000	0.85682	D	0.000000	T	0.61937	0.2387	M	0.93898	3.47	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.73525	-0.3955	10	0.87932	D	0	.	15.772	0.78176	0.0:1.0:0.0:0.0	.	272;327	B7Z4K6;O00115	.;DNS2A_HUMAN	F	327;272	ENSP00000222219:C327F;ENSP00000445988:C272F	ENSP00000222219:C327F	C	-	2	0	DNASE2	12847907	1.000000	0.71417	0.838000	0.33150	0.961000	0.63080	6.472000	0.73567	2.327000	0.79052	0.462000	0.41574	TGT		0.602	DNASE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451790.1			37	59	1	0	4.62619e-21	1	5.07974e-21	37	59					A	12986907	C	A	12986907	3	1	137	1	0	0	0	0	1	0	0	0	4664	478	17	5	106	5	DNASE2	19	12986907	Missense_Mutation	SNP	C	TCGA-EJ-A8FS-01A-11D-A34U-08		12986907	46142076	39	6940											
ARHGAP33	115703	broad.mit.edu	37	chr19	36278974	36278974	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acaccgcctgagcccctctaCgtcaacctagctctagggcc	8	7	8	18	2	3	1	1	1	2	0	3	1	3	1	6	1	4	1	6	1	4	3			TCGA-EJ-A8FS-01A-11D-A34U-08	TCGA-EJ-A8FS-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d86eaa-de07-46a6-aa08-8906f255ae65	e3c8391f-2734-44a4-b1d4-729d7637f6d6	g.chr19:36278974C>T	ENST00000007510.4	+	21	3651	c.3507C>T	c.(3505-3507)taC>taT	p.Y1169Y	ARHGAP33_ENST00000378944.5_Silent_p.Y1005Y|ARHGAP33_ENST00000314737.5_Silent_p.Y1008Y|AC002398.5_ENST00000433059.1_lincRNA			O14559	RHG33_HUMAN	Rho GTPase activating protein 33	1169					protein transport (GO:0015031)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	phosphatidylinositol binding (GO:0035091)|Rac GTPase activator activity (GO:0030675)			endometrium(7)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	37						AGCCCCTCTACGTCAACCTAG	0.682																																						ENST00000007510.4																			0				endometrium(7)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	37						c.(3505-3507)taC>taT		Rho GTPase activating protein 33							33	35	34					19																	36278974		2200	4298	6498	SO:0001819	synonymous_variant	115703				cell communication|protein transport|signal transduction	intracellular	GTPase activator activity|phosphatidylinositol binding|protein binding	g.chr19:36278974C>T	AY044864	CCDS12477.1, CCDS54254.1	19q13.13	2011-06-29	2010-02-19	2010-02-19		ENSG00000004777		"Rho GTPase activating proteins"	23085	protein-coding gene	gene with protein product		614902	"sorting nexin 26"	SNX26		12297274, 12461558	Standard	NM_052948		Approved	FLJ39019, TCGAP	uc002obs.2	O14559		ENST00000007510.4:c.3507C>T	19.37:g.36278974C>T						ARHGAP33_ENST00000314737.5_Silent_p.Y1008Y|ARHGAP33_ENST00000378944.5_Silent_p.Y1005Y	p.Y1169Y			O14559	RHG33_HUMAN			21	3651	+			1169					O14552|O14560|Q6ZSP6|Q96CP3|Q9NT23	Silent	SNP	ENST00000007510.4	37	c.3507C>T																																																																																					0.682	ARHGAP33-201	KNOWN	basic	protein_coding	protein_coding		NM_052948		22	42	0	0	0	1	0	22	42					T	36278974	C	T	36278974	2	4	137	1	0	0	0	0	0	0	0	1	882	547	19	1		1	ARHGAP33	19	36278974	Silent	SNP	C	TCGA-EJ-A8FS-01A-11D-A34U-08	23292067	36278974	22850009	40	6941											
CYP2A13	1553	broad.mit.edu	37	chr19	41595990	41595990	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gggagcgcgccaagcagctcCggcgcttctccatcgccacc	6	5	12	18	5	1	0	0	0	1	0	4	1	2	1	5	2	3	3	5	2	1	1			TCGA-EJ-A8FS-01A-11D-A34U-08	TCGA-EJ-A8FS-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d86eaa-de07-46a6-aa08-8906f255ae65	e3c8391f-2734-44a4-b1d4-729d7637f6d6	g.chr19:41595990C>T	ENST00000330436.3	+	3	382	c.382C>T	c.(382-384)Cgg>Tgg	p.R128W		NM_000766.4	NP_000757.2	Q16696	CP2AD_HUMAN	cytochrome P450, family 2, subfamily A, polypeptide 13	128					small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			breast(3)|endometrium(6)|kidney(4)|large_intestine(8)|lung(13)|ovary(3)|prostate(3)|skin(2)	42					Methoxsalen(DB00553)|Nicotine(DB00184)|Testosterone(DB00624)	CAAGCAGCTCCGGCGCTTCTC	0.701																																						ENST00000330436.3																			0				breast(3)|endometrium(6)|kidney(4)|large_intestine(8)|lung(13)|ovary(3)|prostate(3)|skin(2)	42						c.(382-384)Cgg>Tgg		cytochrome P450, family 2, subfamily A, polypeptide 13	Clomipramine(DB01242)|Nicotine(DB00184)						18	19	19					19																	41595990		2202	4296	6498	SO:0001583	missense	1553				xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|coumarin 7-hydroxylase activity|electron carrier activity|heme binding	g.chr19:41595990C>T	U22028	CCDS12571.1	19q13.2	2013-11-11	2003-01-14		ENSG00000197838	ENSG00000197838		"Cytochrome P450s"	2608	protein-coding gene	gene with protein product		608055	"cytochrome P450, subfamily IIA (phenobarbital-inducible), polypeptide 13"			7668294, 15128046	Standard	NM_000766		Approved	CPAD, CYP2A	uc002opt.4	Q16696	OTTHUMG00000182762	ENST00000330436.3:c.382C>T	19.37:g.41595990C>T	ENSP00000332679:p.Arg128Trp						p.R128W	NM_000766.4	NP_000757.2	Q16696	CP2AD_HUMAN			3	382	+			128					Q53YR8|Q6R569|Q6R570|Q9H2X2	Missense_Mutation	SNP	ENST00000330436.3	37	c.382C>T	CCDS12571.1	.	.	.	.	.	.	.	.	.	.	.	9.852	1.194046	0.22037	.	.	ENSG00000197838	ENST00000330436	T	0.06294	3.32	3.43	-6.85	0.01681	.	0.000000	0.85682	U	0.000000	T	0.32376	0.0827	H	0.96916	3.905	0.21697	N	0.999588	D	0.89917	1.0	D	0.87578	0.998	T	0.43734	-0.9373	10	0.87932	D	0	.	16.9995	0.86378	0.7368:0.2632:0.0:0.0	.	128	Q16696	CP2AD_HUMAN	W	128	ENSP00000332679:R128W	ENSP00000332679:R128W	R	+	1	2	CYP2A13	46287830	0.000000	0.05858	0.013000	0.15412	0.000000	0.00434	-2.575000	0.00910	-2.102000	0.00845	-4.920000	0.00002	CGG		0.701	CYP2A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463505.1	NM_000766		3	23	0	0	0	1	0	3	23					T	41595990	C	T	41595990	3	4	137	1	0	0	0	0	1	0	0	0	4161	643	23	2	392	2	CYP2A13	19	41595990	Missense_Mutation	SNP	C	TCGA-EJ-A8FS-01A-11D-A34U-08	5317016	41595990	17532993	41	6942											
C20orf177	63939	broad.mit.edu	37	chr20	58519620	58519620	+	Frame_Shift_Del	DEL	C	C	-																															caaaggggggcaaagcaaggCcccccactgcccctgggacc																										TCGA-EJ-A8FS-01A-11D-A34U-08	TCGA-EJ-A8FS-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d86eaa-de07-46a6-aa08-8906f255ae65	e3c8391f-2734-44a4-b1d4-729d7637f6d6	g.chr20:58519620delC	ENST00000358293.3	+	5	1037	c.622delC	c.(622-624)cccfs	p.P209fs	FAM217B_ENST00000469084.1_3'UTR|FAM217B_ENST00000360816.3_Frame_Shift_Del_p.P209fs	NM_001190826.1	NP_001177755.1	Q9NTX9	F217B_HUMAN	family with sequence similarity 217, member B	209																	CAAAGCAAGGCCCCCCACTGC	0.542																																						ENST00000358293.3																			0											c.(622-624)ccfs		family with sequence similarity 217, member B							34	41	38					20																	58519620		2203	4300	6503	SO:0001589	frameshift_variant	63939							g.chr20:58519620delC	AL109928	CCDS13484.1	20q13.33	2012-02-07	2012-02-07	2012-02-07	ENSG00000196227	ENSG00000196227			16170	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 177"	C20orf177			Standard	NM_022106		Approved	dJ551D2.5	uc002ybc.3	Q9NTX9	OTTHUMG00000032873	ENST00000358293.3:c.622delC	20.37:g.58519620delC	ENSP00000351040:p.Pro209fs					FAM217B_ENST00000469084.1_3'UTR|FAM217B_ENST00000360816.3_Frame_Shift_Del_p.P209fs	p.P209fs	NM_001190826.1	NP_001177755.1	Q9NTX9	CT177_HUMAN			5	1037	+			209					B3KWH1|Q9NTA3	Frame_Shift_Del	DEL	ENST00000358293.3	37	c.622delC	CCDS13484.1																																																																																				0.542	FAM217B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268139.1	NM_022106		22	31						22	31	---	---	---	---	-	58519620	C	-	58519620	7	5	137	1	0	1	0	1	0	0	0	0	2096	739	26	0	624	0	C20orf177	20	58519620	Frame_Shift_Del	DEL	C	TCGA-EJ-A8FS-01A-11D-A34U-08		58519620	4505900	42	6943											
PDE9A	5152	broad.mit.edu	37	chr21	44190855	44190855	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tcatgctgcagccactttggGaatcccgagatcgctacgag	9	9	11	12	3	1	1	1	0	0	1	3	4	2	2	2	1	4	3	2	1	2	2			TCGA-EJ-A8FS-01A-11D-A34U-08	TCGA-EJ-A8FS-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d86eaa-de07-46a6-aa08-8906f255ae65	e3c8391f-2734-44a4-b1d4-729d7637f6d6	g.chr21:44190855G>T	ENST00000291539.6	+	18	1693	c.1633G>T	c.(1633-1635)Gaa>Taa	p.E545*	PDE9A_ENST00000328862.6_Nonsense_Mutation_p.E519*|PDE9A_ENST00000398229.3_Nonsense_Mutation_p.E411*|PDE9A_ENST00000398224.3_Nonsense_Mutation_p.E418*|PDE9A_ENST00000335440.6_Nonsense_Mutation_p.E443*|PDE9A_ENST00000470987.1_3'UTR|PDE9A_ENST00000335512.4_Nonsense_Mutation_p.E485*|PDE9A_ENST00000398232.3_Nonsense_Mutation_p.E478*|PDE9A_ENST00000380328.2_Nonsense_Mutation_p.E492*|PDE9A_ENST00000398234.3_Nonsense_Mutation_p.E444*|PDE9A_ENST00000398236.3_Nonsense_Mutation_p.E459*|PDE9A_ENST00000349112.3_Nonsense_Mutation_p.E417*|PDE9A_ENST00000398225.3_Nonsense_Mutation_p.E504*|PDE9A_ENST00000398227.3_Nonsense_Mutation_p.E385*|PDE9A_ENST00000539837.1_Nonsense_Mutation_p.E417*	NM_002606.2	NP_002597.1	O76083	PDE9A_HUMAN	phosphodiesterase 9A	545	Catalytic. {ECO:0000250}.				blood coagulation (GO:0007596)|cGMP-mediated signaling (GO:0019934)|metabolic process (GO:0008152)|signal transduction (GO:0007165)	cell projection (GO:0042995)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|metal ion binding (GO:0046872)			breast(1)|endometrium(4)|large_intestine(6)|lung(8)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	27					Caffeine(DB00201)	GCCACTTTGGGAATCCCGAGA	0.527																																						ENST00000291539.6																			0				breast(1)|endometrium(4)|large_intestine(6)|lung(8)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	27						c.(1633-1635)Gaa>Taa		phosphodiesterase 9A							140	113	122					21																	44190855		2203	4300	6503	SO:0001587	stop_gained	5152				platelet activation|signal transduction	cytosol|endoplasmic reticulum|Golgi apparatus|perinuclear region of cytoplasm|ruffle membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding|protein binding	g.chr21:44190855G>T	AF048837	CCDS13690.1, CCDS33567.1, CCDS33568.1, CCDS33569.1, CCDS33570.1, CCDS33571.1, CCDS42941.1, CCDS42942.1, CCDS42943.1, CCDS42944.1, CCDS42945.1, CCDS42946.1, CCDS42947.1	21q22.3	2005-11-29			ENSG00000160191	ENSG00000160191	3.1.4.17	"Phosphodiesterases"	8795	protein-coding gene	gene with protein product		602973				9624146	Standard	NM_001001584		Approved		uc002zbm.3	O76083	OTTHUMG00000086825	ENST00000291539.6:c.1633G>T	21.37:g.44190855G>T	ENSP00000291539:p.Glu545*					PDE9A_ENST00000470987.1_3'UTR|PDE9A_ENST00000398224.3_Nonsense_Mutation_p.E418*|PDE9A_ENST00000398236.3_Nonsense_Mutation_p.E459*|PDE9A_ENST00000398225.3_Nonsense_Mutation_p.E504*|PDE9A_ENST00000539837.1_Nonsense_Mutation_p.E417*|PDE9A_ENST00000335512.4_Nonsense_Mutation_p.E485*|PDE9A_ENST00000398229.3_Nonsense_Mutation_p.E411*|PDE9A_ENST00000398232.3_Nonsense_Mutation_p.E478*|PDE9A_ENST00000398234.3_Nonsense_Mutation_p.E444*|PDE9A_ENST00000380328.2_Nonsense_Mutation_p.E492*|PDE9A_ENST00000398227.3_Nonsense_Mutation_p.E385*|PDE9A_ENST00000335440.6_Nonsense_Mutation_p.E443*|PDE9A_ENST00000349112.3_Nonsense_Mutation_p.E417*|PDE9A_ENST00000328862.6_Nonsense_Mutation_p.E519*	p.E545*	NM_002606.2	NP_002597.1	O76083	PDE9A_HUMAN			18	1693	+			545			Catalytic (By similarity).		B2RBI5|B4DFI5|D3DSJ8|D3DSJ9|O75490|O75491|O95225|Q53Y40|Q5QD39|Q86SF7|Q86SI6|Q86SJ3|Q86WN3|Q86WN4|Q86WN5|Q86WN6|Q86WN7|Q86WN8|Q86WN9|Q86WP0	Nonsense_Mutation	SNP	ENST00000291539.6	37	c.1633G>T	CCDS13690.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.273779	0.80580	.	.	ENSG00000160191	ENST00000335512;ENST00000539837;ENST00000291539;ENST00000380328;ENST00000398232;ENST00000398234;ENST00000398236;ENST00000328862;ENST00000335440;ENST00000398225;ENST00000398229;ENST00000398227;ENST00000349112;ENST00000398224	.	.	.	4.64	3.73	0.42828	.	0.159596	0.53938	D	0.000050	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.30078	T	0.28	.	13.5942	0.61979	0.0807:0.0:0.9193:0.0	.	.	.	.	X	485;417;545;492;478;444;459;519;443;504;411;385;417;418	.	ENSP00000291539:E545X	E	+	1	0	PDE9A	43063924	1.000000	0.71417	0.984000	0.44739	0.025000	0.11179	6.169000	0.71913	2.301000	0.77427	0.557000	0.71058	GAA		0.527	PDE9A-016	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000195466.1			21	6	1	0	1.50039e-11	1	1.55596e-11	21	6					T	44190855	G	T	44190855	4	4	137	1	0	0	0	0	0	1	0	0	11655	1175	41	5	1783	5	PDE9A	21	44190855	Nonsense_Mutation	SNP	G	TCGA-EJ-A8FS-01A-11D-A34U-08		44190855	3939040	43	6944											
DDX17	11015	broad.mit.edu	37	chr22	38881961	38881961	+	IGR	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catttacgtgaaggaggaggAgggggaggaggaggagggta	12	5	22	2	1	0	1	0	1	0	0	0	8	0	8	0	9	1	1	0	9	3	3			TCGA-EJ-A8FS-01A-11D-A34U-08	TCGA-EJ-A8FS-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d86eaa-de07-46a6-aa08-8906f255ae65	e3c8391f-2734-44a4-b1d4-729d7637f6d6	g.chr22:38881961A>G	ENST00000216014.4	+	0	1728				DDX17_ENST00000381633.3_Silent_p.P646P|DDX17_ENST00000444597.1_Silent_p.P175P|DDX17_ENST00000396821.3_Silent_p.P725P	NM_006855.2	NP_006846.1	O43731	ERD23_HUMAN	KDEL (Lys-Asp-Glu-Leu) endoplasmic reticulum protein retention receptor 3						activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|protein retention in ER lumen (GO:0006621)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	ER retention sequence binding (GO:0046923)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)	13	Melanoma(58;0.0286)					Aaggaggaggagggggaggag	0.473																																					Ovarian(11;103 529 24120 28493 32980)	ENST00000396821.3																			0				breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(6)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	25						c.(2173-2175)ccT>ccC		DEAD (Asp-Glu-Ala-Asp) box helicase 17							115	107	110					22																	38881961		2203	4300	6503	SO:0001628	intergenic_variant	10521				RNA processing	nucleus	ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity|RNA-dependent ATPase activity	g.chr22:38881961A>G	AL035081	CCDS13972.1, CCDS46705.1	22q13	2008-05-02			ENSG00000100196	ENSG00000100196			6306	protein-coding gene	gene with protein product							Standard	NM_006855		Approved		uc003avu.3	O43731	OTTHUMG00000153520		22.37:g.38881961A>G						DDX17_ENST00000444597.1_Silent_p.P175P|DDX17_ENST00000381633.3_Silent_p.P646P	p.P725P	NM_001098504.1|NM_006386.4	NP_001091974.1|NP_006377.2	Q92841	DDX17_HUMAN			13	2274	-	Melanoma(58;0.0286)		644					A8K7T7|B8ZZ26|O95557|Q4V750|Q4V767|Q53FP4|Q53GK1	Silent	SNP	ENST00000216014.4	37	c.2175T>C	CCDS13972.1	.	.	.	.	.	.	.	.	.	.	A	0.950	-0.706751	0.03230	.	.	ENSG00000100201	ENST00000404499	.	.	.	5.26	-7.23	0.01480	.	.	.	.	.	T	0.33789	0.0875	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.46541	-0.9184	4	.	.	.	-6.8524	1.3423	0.02157	0.3598:0.0885:0.2865:0.2652	.	.	.	.	P	716	.	.	L	-	2	0	DDX17	37211907	0.707000	0.27866	0.227000	0.23927	0.389000	0.30415	-0.308000	0.08156	-0.565000	0.06061	-0.384000	0.06662	CTC		0.473	KDELR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331474.1			3	51	0	0	0	1	0	3	51					G	38881961	A	G	38881961	1	3	137	0	1	0	0	0	0	0	0	0	4344	291	11	4		4	DDX17	22	38881961	IGR	SNP	A	TCGA-EJ-A8FS-01A-11D-A34U-08		38881961	12422605	44	6945											
NKAP	79576	broad.mit.edu	37	chrX	119077407	119077407	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccagctgatgggtgagtccAttccggtccccggaccgaga	7	7	13	14	3	0	3	0	2	0	1	3	5	3	4	6	3	1	1	6	3	0	1			TCGA-EJ-A8FS-01A-11D-A34U-08	TCGA-EJ-A8FS-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d86eaa-de07-46a6-aa08-8906f255ae65	e3c8391f-2734-44a4-b1d4-729d7637f6d6	g.chrX:119077407A>G	ENST00000371410.3	-	1	328	c.162T>C	c.(160-162)aaT>aaC	p.N54N		NM_024528.3	NP_078804.2	Q8N5F7	NKAP_HUMAN	NFKB activating protein	54	Ser-rich.				granulocyte differentiation (GO:0030851)|hematopoietic stem cell proliferation (GO:0071425)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|stem cell maintenance (GO:0019827)|T cell differentiation in thymus (GO:0033077)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)	20						GGGTGAGTCCATTCCGGTCCC	0.682																																						ENST00000371410.3																			0				breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)	20						c.(160-162)aaT>aaC		NFKB activating protein							32	34	33					X																	119077407		2202	4293	6495	SO:0001819	synonymous_variant	79576				negative regulation of transcription, DNA-dependent|Notch signaling pathway|positive regulation of alpha-beta T cell differentiation|transcription, DNA-dependent	cytoplasm|nucleus	chromatin binding|protein binding	g.chrX:119077407A>G	BC012770	CCDS14592.1	Xq24	2010-07-20			ENSG00000101882	ENSG00000101882			29873	protein-coding gene	gene with protein product	"NF kappaB activating protein"	300766				14550261	Standard	NM_024528		Approved	FLJ22626	uc004esh.3	Q8N5F7	OTTHUMG00000022284	ENST00000371410.3:c.162T>C	X.37:g.119077407A>G							p.N54N	NM_024528.3	NP_078804.2	Q8N5F7	NKAP_HUMAN			1	328	-			54			Ser-rich.		Q6IPW6|Q96BQ2|Q9H638	Silent	SNP	ENST00000371410.3	37	c.162T>C	CCDS14592.1																																																																																				0.682	NKAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058072.1	NM_024528		5	1	0	0	0	1	0	5	1					G	119077407	A	G	119077407	2	3	137	1	0	0	0	0	0	0	0	1	10439	214	8	4		4	NKAP	23	119077407	Silent	SNP	A	TCGA-EJ-A8FS-01A-11D-A34U-08		119077407	36193153	45	6946											
FMN2	56776	broad.mit.edu	37	chr1	240492719	240492719	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccagtccacattttcagaaaGcatttgctcaattcgtcgca	11	12	6	12	2	2	1	2	0	0	1	5	1	3	1	2	0	2	3	2	0	2	4			TCGA-EJ-A8FU-01A-11D-A364-08	TCGA-EJ-A8FU-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	293f781c-c2c7-479b-b1a6-5f951a2c5e5a	e77da017-5dc6-4e32-9568-755e4ee9b533	g.chr1:240492719G>T	ENST00000319653.9	+	10	4618	c.4388G>T	c.(4387-4389)aGc>aTc	p.S1463I	FMN2_ENST00000545751.1_Missense_Mutation_p.S59I	NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	1463	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.				cellular response to DNA damage stimulus (GO:0006974)|cellular response to hypoxia (GO:0071456)|establishment of meiotic spindle localization (GO:0051295)|formin-nucleated actin cable assembly (GO:0070649)|homologous chromosome movement towards spindle pole involved in homologous chromosome segregation (GO:0051758)|intracellular signal transduction (GO:0035556)|intracellular transport (GO:0046907)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein catabolic process (GO:0042177)|oogenesis (GO:0048477)|polar body extrusion after meiotic divisions (GO:0040038)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cell cortex (GO:0005938)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|microvillus (GO:0005902)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|spindle (GO:0005819)	actin binding (GO:0003779)			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			TTTTCAGAAAGCATTTGCTCA	0.408																																						ENST00000319653.9																			0				NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178						c.(4387-4389)aGc>aTc		formin 2							160	149	153					1																	240492719		2203	4300	6503	SO:0001583	missense	56776				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding	g.chr1:240492719G>T	AF218942	CCDS31069.2	1q43	2008-02-05			ENSG00000155816	ENSG00000155816			14074	protein-coding gene	gene with protein product		606373				10781961	Standard	NM_020066		Approved		uc010pyd.2	Q9NZ56	OTTHUMG00000039883	ENST00000319653.9:c.4388G>T	1.37:g.240492719G>T	ENSP00000318884:p.Ser1463Ile					FMN2_ENST00000545751.1_Missense_Mutation_p.S59I	p.S1463I	NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0106)		10	4618	+	Ovarian(103;0.127)	all_cancers(173;0.013)	1463			FH2.		B0QZA7|B4DP05|Q59GF6|Q5VU37|Q9NZ55	Missense_Mutation	SNP	ENST00000319653.9	37	c.4388G>T	CCDS31069.2	.	.	.	.	.	.	.	.	.	.	G	21.5	4.160006	0.78226	.	.	ENSG00000155816	ENST00000319653;ENST00000545751;ENST00000537355	T;T	0.19394	2.15;2.15	5.65	5.65	0.86999	Actin-binding FH2/DRF autoregulatory (1);Actin-binding FH2 (3);	0.000000	0.64402	D	0.000001	T	0.42426	0.1202	L	0.45581	1.43	0.80722	D	1	P;P;D;P	0.76494	0.801;0.552;0.999;0.933	B;B;D;P	0.70016	0.412;0.271;0.967;0.808	T	0.13442	-1.0509	10	0.62326	D	0.03	.	19.7243	0.96157	0.0:0.0:1.0:0.0	.	59;109;92;1463	B4DP05;F5H2C1;B4DN09;Q9NZ56	.;.;.;FMN2_HUMAN	I	1463;59;90	ENSP00000318884:S1463I;ENSP00000437918:S59I	ENSP00000318884:S1463I	S	+	2	0	FMN2	238559342	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	4.783000	0.62403	2.647000	0.89833	0.655000	0.94253	AGC		0.408	FMN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096217.2	XM_371352		5	80	1	0	0.184627	1	0.184627	5	80					T	240492719	G	T	240492719	3	4	138	1	0	0	0	0	1	0	0	0	5950	971	34	5	4426	5	FMN2	1	240492719	Missense_Mutation	SNP	G	TCGA-EJ-A8FU-01A-11D-A364-08		240492719	8757902	1	6947											
ZNF638	27332	broad.mit.edu	37	chr2	71654016	71654016	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtcagtggctgaagaacaaGatctcctcaaacaggaacgc	14	7	10	10	1	3	3	2	1	1	2	4	4	3	4	1	2	3	1	1	2	5	0			TCGA-EJ-A8FU-01A-11D-A364-08	TCGA-EJ-A8FU-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	293f781c-c2c7-479b-b1a6-5f951a2c5e5a	e77da017-5dc6-4e32-9568-755e4ee9b533	g.chr2:71654016G>T	ENST00000409544.1	+	24	5647	c.5017G>T	c.(5017-5019)Gat>Tat	p.D1673Y	ZNF638_ENST00000409407.1_Missense_Mutation_p.D613Y|ZNF638_ENST00000264447.4_Missense_Mutation_p.D1673Y|ZNF638_ENST00000355812.3_3'UTR	NM_001252612.1	NP_001239541.1	Q14966	ZN638_HUMAN	zinc finger protein 638	1673					regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|lung(28)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	63						TGAAGAACAAGATCTCCTCAA	0.378																																						ENST00000409544.1																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|lung(28)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	63						c.(5017-5019)Gat>Tat		zinc finger protein 638							80	80	80					2																	71654016		2203	4300	6503	SO:0001583	missense	27332				RNA splicing	cytoplasm|nuclear speck	double-stranded DNA binding|nucleotide binding|RNA binding|zinc ion binding	g.chr2:71654016G>T	D83032	CCDS1917.1	2p13.1	2013-02-12	2004-07-29	2004-07-30	ENSG00000075292	ENSG00000075292		"RNA binding motif (RRM) containing"	17894	protein-coding gene	gene with protein product		614349	"zinc finger, matrin-like"	ZFML		8647861	Standard	NM_014497		Approved	NP220, MGC26130, Zfp638	uc002shy.3	Q14966	OTTHUMG00000129735	ENST00000409544.1:c.5017G>T	2.37:g.71654016G>T	ENSP00000386433:p.Asp1673Tyr					ZNF638_ENST00000409407.1_Missense_Mutation_p.D613Y|ZNF638_ENST00000355812.3_3'UTR|ZNF638_ENST00000264447.4_Missense_Mutation_p.D1673Y	p.D1673Y	NM_001252612.1	NP_001239541.1	Q14966	ZN638_HUMAN			24	5647	+			1673					B5MDV1|B7ZLD1|Q53R34|Q5XJ05|Q68DP3|Q6P2H2|Q7Z3T7|Q8NF92|Q8TCA1|Q9H2G1|Q9NP37	Missense_Mutation	SNP	ENST00000409544.1	37	c.5017G>T	CCDS1917.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.976382	0.74360	.	.	ENSG00000075292	ENST00000264447;ENST00000409544;ENST00000409407	T;T;T	0.37915	1.17;1.17;1.53	5.32	5.32	0.75619	.	0.147419	0.44483	D	0.000446	T	0.45975	0.1369	N	0.19112	0.55	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.40720	-0.9548	10	0.46703	T	0.11	-18.0374	16.5466	0.84448	0.0:0.0:1.0:0.0	.	1673;1673	Q14966-3;Q14966	.;ZN638_HUMAN	Y	1673;1673;613	ENSP00000264447:D1673Y;ENSP00000386433:D1673Y;ENSP00000386813:D613Y	ENSP00000264447:D1673Y	D	+	1	0	ZNF638	71507524	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.287000	0.65645	2.773000	0.95371	0.655000	0.94253	GAT		0.378	ZNF638-002	NOVEL	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000327431.1	NM_014497		4	85	1	0	0.00024832	1	0.000266714	4	85					T	71654016	G	T	71654016	3	4	138	1	0	0	0	0	1	0	0	0	18052	942	33	5	5107	5	ZNF638	2	71654016	Missense_Mutation	SNP	G	TCGA-EJ-A8FU-01A-11D-A364-08		71654016	171545357	2	6948											
CNTN4	152330	broad.mit.edu	37	chr3	2944670	2944670	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	catggagttatcttttccaaCgcagagcttagtgttatagg	10	14	10	7	1	1	1	0	0	1	1	2	2	2	2	1	2	2	4	1	2	5	6			TCGA-EJ-A8FU-01A-11D-A364-08	TCGA-EJ-A8FU-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	293f781c-c2c7-479b-b1a6-5f951a2c5e5a	e77da017-5dc6-4e32-9568-755e4ee9b533	g.chr3:2944670C>T	ENST00000397461.1	+	11	1572	c.1188C>T	c.(1186-1188)aaC>aaT	p.N396N	CNTN4_ENST00000448906.2_Silent_p.N68N|CNTN4_ENST00000427331.1_Silent_p.N396N|CNTN4_ENST00000358480.3_Silent_p.N177N|CNTN4_ENST00000418658.1_Silent_p.N396N|CNTN4_ENST00000475817.1_3'UTR|CNTN4_ENST00000397459.2_Silent_p.N68N	NM_001206955.1	NP_001193884.1	Q8IWV2	CNTN4_HUMAN	contactin 4	396	Ig-like C2-type 4.				axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|axonogenesis (GO:0007409)|brain development (GO:0007420)|negative regulation of neuron differentiation (GO:0045665)|nervous system development (GO:0007399)|neuron cell-cell adhesion (GO:0007158)|neuron projection development (GO:0031175)|regulation of synaptic plasticity (GO:0048167)	anchored component of membrane (GO:0031225)|axon (GO:0030424)|extracellular region (GO:0005576)|plasma membrane (GO:0005886)				NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		TCTTTTCCAACGCAGAGCTTA	0.353																																						ENST00000397461.1																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						c.(1186-1188)aaC>aaT		contactin 4							86	83	84					3																	2944670		2203	4300	6503	SO:0001819	synonymous_variant	152330				axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity	anchored to membrane|axon|extracellular region|plasma membrane	protein binding	g.chr3:2944670C>T	AW665944	CCDS2558.1, CCDS43041.1	3p26.3	2013-02-11			ENSG00000144619	ENSG00000144619		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	2174	protein-coding gene	gene with protein product		607280				8586965, 12202991	Standard	NM_175607		Approved	BIG-2	uc003bpc.3	Q8IWV2	OTTHUMG00000119031	ENST00000397461.1:c.1188C>T	3.37:g.2944670C>T						CNTN4_ENST00000448906.2_Silent_p.N68N|CNTN4_ENST00000397459.2_Silent_p.N68N|CNTN4_ENST00000427331.1_Silent_p.N396N|CNTN4_ENST00000418658.1_Silent_p.N396N|CNTN4_ENST00000475817.1_3'UTR|CNTN4_ENST00000358480.3_Silent_p.N177N	p.N396N	NM_001206955.1	NP_001193884.1	Q8IWV2	CNTN4_HUMAN		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)	11	1572	+		Ovarian(110;0.156)	396			Ig-like C2-type 4.		B2RAX3|Q8IX14|Q8TC35	Silent	SNP	ENST00000397461.1	37	c.1188C>T	CCDS43041.1																																																																																				0.353	CNTN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239236.2			4	51	0	0	0	1	0	4	51					T	2944670	C	T	2944670	2	4	138	1	0	0	0	0	0	0	0	1	3643	535	19	1		1	CNTN4	3	2944670	Silent	SNP	C	TCGA-EJ-A8FU-01A-11D-A364-08		2944670	195077760	3	6949											
ABCG2	9429	broad.mit.edu	37	chr4	89042815	89042815	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gagcaaaaggacagcatttgCtgtgcttgagtctaagccag	12	9	12	8	0	1	1	0	1	1	0	1	3	1	2	1	1	5	4	1	1	3	3			TCGA-EJ-A8FU-01A-11D-A364-08	TCGA-EJ-A8FU-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	293f781c-c2c7-479b-b1a6-5f951a2c5e5a	e77da017-5dc6-4e32-9568-755e4ee9b533	g.chr4:89042815C>T	ENST00000237612.3	-	6	1206	c.661G>A	c.(661-663)Gca>Aca	p.A221T	ABCG2_ENST00000515655.1_Missense_Mutation_p.A221T	NM_004827.2	NP_004818.2	Q9UNQ0	ABCG2_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 2 (Junior blood group)	221	ABC transporter. {ECO:0000255|PROSITE- ProRule:PRU00434}.				cellular iron ion homeostasis (GO:0006879)|drug export (GO:0046618)|drug transmembrane transport (GO:0006855)|embryonic process involved in female pregnancy (GO:0060136)|heme transport (GO:0015886)|response to drug (GO:0042493)|response to folic acid (GO:0051593)|response to glucocorticoid (GO:0051384)|response to iron ion (GO:0010039)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)|urate metabolic process (GO:0046415)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|heme transporter activity (GO:0015232)|protein homodimerization activity (GO:0042803)|transporter activity (GO:0005215)|xenobiotic-transporting ATPase activity (GO:0008559)			breast(5)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(13)|lung(10)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	42		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;7.02e-05)	Afatinib(DB08916)|Apixaban(DB06605)|Buprenorphine(DB00921)|Cabazitaxel(DB06772)|Carboplatin(DB00958)|Cisplatin(DB00515)|Cladribine(DB00242)|Clofarabine(DB00631)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Dabrafenib(DB08912)|Dactinomycin(DB00970)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Dexamethasone(DB01234)|Diethylstilbestrol(DB00255)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Dronabinol(DB00470)|Erlotinib(DB00530)|Estradiol(DB00783)|Estrone(DB00655)|Etoposide(DB00773)|Ezetimibe(DB00973)|Fluorouracil(DB00544)|Folic Acid(DB00158)|Gefitinib(DB00317)|Glyburide(DB01016)|Hesperetin(DB01094)|Hydrocortisone(DB00741)|Imatinib(DB00619)|Irinotecan(DB00762)|Ivermectin(DB00602)|Lamivudine(DB00709)|Lansoprazole(DB00448)|Leflunomide(DB01097)|Methotrexate(DB00563)|Mitoxantrone(DB01204)|Mycophenolate mofetil(DB00688)|Nelfinavir(DB00220)|Nilotinib(DB04868)|Nitrofurantoin(DB00698)|Novobiocin(DB01051)|Omeprazole(DB00338)|Oxaliplatin(DB00526)|Paclitaxel(DB01229)|Pantoprazole(DB00213)|Pazopanib(DB06589)|Pitavastatin(DB08860)|Ponatinib(DB08901)|Pravastatin(DB00175)|Prazosin(DB00457)|Rabeprazole(DB01129)|Regorafenib(DB08896)|Rilpivirine(DB08864)|Riluzole(DB00740)|Ritonavir(DB00503)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Sorafenib(DB00398)|Sulfasalazine(DB00795)|Sumatriptan(DB00669)|Sunitinib(DB01268)|Tamoxifen(DB00675)|Telmisartan(DB00966)|Teniposide(DB00444)|Teriflunomide(DB08880)|Testosterone(DB00624)|Topotecan(DB01030)|Vandetanib(DB05294)|Vemurafenib(DB08881)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vincristine(DB00541)|Vismodegib(DB08828)|Zafirlukast(DB00549)|Zidovudine(DB00495)	ACAGCATTTGCTGTGCTTGAG	0.403																																						ENST00000237612.3																			0				breast(5)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(13)|lung(10)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	42						c.(661-663)Gca>Aca		ATP-binding cassette, sub-family G (WHITE), member 2	Imatinib(DB00619)|Mitoxantrone(DB01204)|Nicardipine(DB00622)|Nitrendipine(DB01054)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Topotecan(DB01030)						108	101	103					4																	89042815		2203	4300	6503	SO:0001583	missense	9429				cellular iron ion homeostasis|urate metabolic process	integral to membrane|plasma membrane	ATP binding|heme transporter activity|protein homodimerization activity|xenobiotic-transporting ATPase activity	g.chr4:89042815C>T	AF103796	CCDS3628.1, CCDS58910.1	4q22.1	2014-08-27	2014-08-27		ENSG00000118777	ENSG00000118777		"CD molecules", "ATP binding cassette transporters / subfamily G"	74	protein-coding gene	gene with protein product		603756	"ATP-binding cassette, sub-family G (WHITE), member 2"			8894702, 9861027	Standard	NM_001257386		Approved	EST157481, MXR, BCRP, ABCP, CD338	uc003hrg.3	Q9UNQ0	OTTHUMG00000130601	ENST00000237612.3:c.661G>A	4.37:g.89042815C>T	ENSP00000237612:p.Ala221Thr					ABCG2_ENST00000515655.1_Missense_Mutation_p.A221T	p.A221T	NM_004827.2	NP_004818.2	Q9UNQ0	ABCG2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;7.02e-05)	6	1206	-		Hepatocellular(203;0.114)	221			ABC transporter.		A0A1W3|A8K1T5|O95374|Q4W5I3|Q53ZQ1|Q569L4|Q5YLG4|Q86V64|Q8IX16|Q96LD6|Q96TA8|Q9BY73|Q9NUS0	Missense_Mutation	SNP	ENST00000237612.3	37	c.661G>A	CCDS3628.1	.	.	.	.	.	.	.	.	.	.	C	28.2	4.902255	0.92035	.	.	ENSG00000118777	ENST00000515655;ENST00000237612	T;T	0.64618	-0.11;-0.11	5.54	5.54	0.83059	ATPase, AAA+ type, core (1);ABC transporter-like (1);	0.000000	0.85682	D	0.000000	T	0.76969	0.4062	M	0.66378	2.025	0.80722	D	1	D;D;D	0.76494	0.999;0.965;0.998	D;P;P	0.63877	0.919;0.751;0.831	T	0.76187	-0.3051	10	0.45353	T	0.12	-27.6425	19.1053	0.93293	0.0:1.0:0.0:0.0	.	221;221;221	Q9UNQ0-2;Q9UNQ0;Q4W5I3	.;ABCG2_HUMAN;.	T	221	ENSP00000426917:A221T;ENSP00000237612:A221T	ENSP00000237612:A221T	A	-	1	0	ABCG2	89261839	1.000000	0.71417	0.998000	0.56505	0.878000	0.50629	5.758000	0.68776	2.613000	0.88420	0.650000	0.86243	GCA		0.403	ABCG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253051.1	NM_004827		3	40	0	0	0	1	0	3	40					T	89042815	C	T	89042815	3	4	138	1	0	0	0	0	1	0	0	0	69	797	28	3	1350	3	ABCG2	4	89042815	Missense_Mutation	SNP	C	TCGA-EJ-A8FU-01A-11D-A364-08		89042815	102111461	4	6950											
FRG1	2483	broad.mit.edu	37	chr4	190874243	190874243	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	ttgatgagggccctagtcctCcagagcagtttacggctgtc	7	11	12	11	1	0	3	0	2	0	1	3	3	2	3	3	2	2	3	3	2	2	4			TCGA-EJ-A8FU-01A-11D-A364-08	TCGA-EJ-A8FU-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	293f781c-c2c7-479b-b1a6-5f951a2c5e5a	e77da017-5dc6-4e32-9568-755e4ee9b533	g.chr4:190874243C>G	ENST00000226798.4	+	4	502	c.280C>G	c.(280-282)Cca>Gca	p.P94A	FRG1_ENST00000514482.1_3'UTR	NM_004477.2	NP_004468.1	Q14331	FRG1_HUMAN	FSHD region gene 1	94					mRNA splicing, via spliceosome (GO:0000398)|muscle organ development (GO:0007517)|rRNA processing (GO:0006364)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|lung(11)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|urinary_tract(1)	32		all_cancers(14;1.44e-58)|all_epithelial(14;6.32e-41)|all_lung(41;8.13e-17)|Lung NSC(41;2.13e-16)|Breast(6;2.54e-06)|Melanoma(20;0.000263)|Hepatocellular(41;0.00213)|Renal(120;0.0183)|all_hematologic(60;0.0358)|Prostate(90;0.0421)|all_neural(102;0.147)		all cancers(3;1.73e-30)|Epithelial(3;5.85e-30)|OV - Ovarian serous cystadenocarcinoma(60;5.56e-15)|BRCA - Breast invasive adenocarcinoma(30;9.14e-06)|Lung(3;3.54e-05)|STAD - Stomach adenocarcinoma(60;8.83e-05)|LUSC - Lung squamous cell carcinoma(40;0.000198)|GBM - Glioblastoma multiforme(59;0.00892)|READ - Rectum adenocarcinoma(43;0.161)		CCCTAGTCCTCCAGAGCAGTT	0.279																																						ENST00000226798.4																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|lung(11)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|urinary_tract(1)	32						c.(280-282)Cca>Gca		FSHD region gene 1							11	11	11					4																	190874243		2038	4135	6173	SO:0001583	missense	2483				rRNA processing	Cajal body|catalytic step 2 spliceosome|nuclear speck|nucleolus		g.chr4:190874243C>G	L76159	CCDS34121.1	4q35	2008-02-05			ENSG00000109536	ENSG00000109536			3954	protein-coding gene	gene with protein product		601278				8733123	Standard	XM_005262880		Approved	FSG1, FRG1A	uc003izs.3	Q14331	OTTHUMG00000160202	ENST00000226798.4:c.280C>G	4.37:g.190874243C>G	ENSP00000226798:p.Pro94Ala					FRG1_ENST00000514482.1_3'UTR	p.P94A	NM_004477.2	NP_004468.1	Q14331	FRG1_HUMAN		all cancers(3;1.73e-30)|Epithelial(3;5.85e-30)|OV - Ovarian serous cystadenocarcinoma(60;5.56e-15)|BRCA - Breast invasive adenocarcinoma(30;9.14e-06)|Lung(3;3.54e-05)|STAD - Stomach adenocarcinoma(60;8.83e-05)|LUSC - Lung squamous cell carcinoma(40;0.000198)|GBM - Glioblastoma multiforme(59;0.00892)|READ - Rectum adenocarcinoma(43;0.161)	4	502	+		all_cancers(14;1.44e-58)|all_epithelial(14;6.32e-41)|all_lung(41;8.13e-17)|Lung NSC(41;2.13e-16)|Breast(6;2.54e-06)|Melanoma(20;0.000263)|Hepatocellular(41;0.00213)|Renal(120;0.0183)|all_hematologic(60;0.0358)|Prostate(90;0.0421)|all_neural(102;0.147)	94					A8K775	Missense_Mutation	SNP	ENST00000226798.4	37	c.280C>G	CCDS34121.1	.	.	.	.	.	.	.	.	.	.	.	15.87	2.960073	0.53400	.	.	ENSG00000109536	ENST00000226798;ENST00000531991	T;T	0.40476	2.02;1.03	3.71	3.71	0.42584	Actin cross-linking (1);	0.051440	0.85682	D	0.000000	T	0.46795	0.1411	M	0.76838	2.35	0.80722	D	1	P	0.40931	0.733	B	0.44133	0.442	T	0.46034	-0.9220	10	0.12103	T	0.63	-4.7451	13.8593	0.63550	0.0:1.0:0.0:0.0	.	94	Q14331	FRG1_HUMAN	A	94;31	ENSP00000226798:P94A;ENSP00000435943:P31A	ENSP00000226798:P94A	P	+	1	0	FRG1	191111237	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	7.060000	0.76692	2.022000	0.59522	0.632000	0.83419	CCA		0.279	FRG1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000359622.4	NM_004477		3	22	0	0	0	1	0	3	22					G	190874243	C	G	190874243	3	3	138	1	0	0	0	0	1	0	0	0	6046	855	30	5	294	5	FRG1	4	190874243	Missense_Mutation	SNP	C	TCGA-EJ-A8FU-01A-11D-A364-08	101831428	190874243	280033	5	6951											
DNAJC2	27000	broad.mit.edu	37	chr7	102953049	102953049	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctacttgcattcagcacttgTtcttgagcagctttctttgc	6	17	7	11	0	3	1	1	1	2	0	3	1	3	1	0	0	6	5	0	0	1	8			TCGA-EJ-A8FU-01A-11D-A364-08	TCGA-EJ-A8FU-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	293f781c-c2c7-479b-b1a6-5f951a2c5e5a	e77da017-5dc6-4e32-9568-755e4ee9b533	g.chr7:102953049T>C	ENST00000379263.3	-	17	2083	c.1833A>G	c.(1831-1833)gaA>gaG	p.E611E	PMPCB_ENST00000249269.4_3'UTR|DNAJC2_ENST00000249270.7_Silent_p.E558E|PMPCB_ENST00000420236.2_Intron	NM_014377.1	NP_055192.1	Q99543	DNJC2_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 2	611					'de novo' cotranslational protein folding (GO:0051083)|chromatin modification (GO:0016568)|DNA replication (GO:0006260)|negative regulation of cell growth (GO:0030308)|negative regulation of DNA biosynthetic process (GO:2000279)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone binding (GO:0042393)|Hsp70 protein binding (GO:0030544)|poly(A) RNA binding (GO:0044822)|ubiquitin binding (GO:0043130)			endometrium(1)|kidney(9)|large_intestine(6)|lung(4)|ovary(1)	21						TCAGCACTTGTTCTTGAGCAG	0.328																																						ENST00000379263.3																			0				endometrium(1)|kidney(9)|large_intestine(6)|lung(4)|ovary(1)	21						c.(1831-1833)gaA>gaG		DnaJ (Hsp40) homolog, subfamily C, member 2							179	159	166					7																	102953049		1855	4101	5956	SO:0001819	synonymous_variant	27000				'de novo' cotranslational protein folding|chromatin modification|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nuclear membrane	chromatin binding|DNA binding|histone binding|Hsp70 protein binding|ubiquitin binding	g.chr7:102953049T>C	X98260	CCDS43628.1, CCDS47679.1	7q22-q32	2011-09-02	2008-07-01	2008-07-01	ENSG00000105821	ENSG00000105821		"Heat shock proteins / DNAJ (HSP40)"	13192	protein-coding gene	gene with protein product		605502	"zuotin related factor 1"	ZRF1		8885239	Standard	NM_001129887		Approved	MPP11, MPHOSPH11, ZUO1, zuotin	uc003vbo.3	Q99543	OTTHUMG00000157202	ENST00000379263.3:c.1833A>G	7.37:g.102953049T>C						PMPCB_ENST00000249269.4_3'UTR|DNAJC2_ENST00000249270.7_Silent_p.E558E|PMPCB_ENST00000420236.2_Intron	p.E611E	NM_014377.1	NP_055192.1	Q99543	DNJC2_HUMAN			17	2083	-			611					A4VCI0|Q9BVX1	Silent	SNP	ENST00000379263.3	37	c.1833A>G	CCDS43628.1																																																																																				0.328	DNAJC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347891.1			6	91	0	0	0	1	0	6	91					C	102953049	T	C	102953049	2	2	138	1	0	0	0	0	0	0	0	1	4639	1722	60	4		4	DNAJC2	7	102953049	Silent	SNP	T	TCGA-EJ-A8FU-01A-11D-A364-08		102953049	56185614	6	6952											
TSPYL5	85453	broad.mit.edu	37	chr8	98289030	98289030	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aaaaccacccaaagaaactaCggttgttttctgggtttccc	12	11	7	11	1	1	1	0	0	1	1	2	1	2	1	3	2	3	3	3	2	5	5			TCGA-EJ-A8FU-01A-11D-A364-08	TCGA-EJ-A8FU-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	293f781c-c2c7-479b-b1a6-5f951a2c5e5a	e77da017-5dc6-4e32-9568-755e4ee9b533	g.chr8:98289030C>T	ENST00000322128.3	-	1	1146	c.1043G>A	c.(1042-1044)cGt>cAt	p.R348H		NM_033512.2	NP_277047.2	Q86VY4	TSYL5_HUMAN	TSPY-like 5	348					cellular response to gamma radiation (GO:0071480)|nucleosome assembly (GO:0006334)|positive regulation of cell proliferation (GO:0008284)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein ubiquitination (GO:0031398)|regulation of growth (GO:0040008)	nucleus (GO:0005634)				cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|lung(3)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	20	Breast(36;2.56e-06)					AAAGAAACTACGGTTGTTTTC	0.498																																						ENST00000322128.3																			0				cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|lung(3)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	20						c.(1042-1044)cGt>cAt		TSPY-like 5							115	117	116					8																	98289030		2203	4300	6503	SO:0001583	missense	85453				cellular response to gamma radiation|nucleosome assembly|positive regulation of cell proliferation|positive regulation of protein kinase B signaling cascade|positive regulation of protein ubiquitination|regulation of growth	nucleus	protein binding	g.chr8:98289030C>T	AB051537	CCDS34927.1	8q22.1	2011-05-24			ENSG00000180543	ENSG00000180543			29367	protein-coding gene	gene with protein product		614721				11214970	Standard	NM_033512		Approved	KIAA1750	uc003yhy.3	Q86VY4	OTTHUMG00000164857	ENST00000322128.3:c.1043G>A	8.37:g.98289030C>T	ENSP00000322802:p.Arg348His						p.R348H	NM_033512.2	NP_277047.2	Q86VY4	TSYL5_HUMAN			1	1146	-	Breast(36;2.56e-06)		348					B3KRF0|Q9C0B3	Missense_Mutation	SNP	ENST00000322128.3	37	c.1043G>A	CCDS34927.1	.	.	.	.	.	.	.	.	.	.	C	7.286	0.610064	0.14066	.	.	ENSG00000180543	ENST00000322128	T	0.25912	1.77	4.3	1.41	0.22369	.	0.265497	0.20106	N	0.099132	T	0.17534	0.0421	L	0.35644	1.08	0.09310	N	1	B	0.32031	0.352	B	0.37047	0.24	T	0.13764	-1.0497	10	0.35671	T	0.21	-0.1916	2.7484	0.05273	0.1902:0.5238:0.1842:0.1017	.	348	Q86VY4	TSYL5_HUMAN	H	348	ENSP00000322802:R348H	ENSP00000322802:R348H	R	-	2	0	TSPYL5	98358206	0.001000	0.12720	0.182000	0.23118	0.996000	0.88848	0.286000	0.18902	0.307000	0.22880	0.563000	0.77884	CGT		0.498	TSPYL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380611.1	NM_033512		5	117	0	0	0	1	0	5	117					T	98289030	C	T	98289030	3	4	138	1	0	0	0	0	1	0	0	0	16659	536	19	1	214	1	TSPYL5	8	98289030	Missense_Mutation	SNP	C	TCGA-EJ-A8FU-01A-11D-A364-08		98289030	48074992	7	6953											
STK3	6788	broad.mit.edu	37	chr8	99718756	99718756	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ccatttctatagaagtaatgCcaagggaccagatgtcggcc	12	9	10	10	1	1	2	0	0	1	2	2	3	1	3	4	2	1	1	4	2	5	4			TCGA-EJ-A8FU-01A-11D-A364-08	TCGA-EJ-A8FU-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	293f781c-c2c7-479b-b1a6-5f951a2c5e5a	e77da017-5dc6-4e32-9568-755e4ee9b533	g.chr8:99718756C>G	ENST00000419617.2	-	6	763	c.623G>C	c.(622-624)gGc>gCc	p.G208A	STK3_ENST00000523601.1_Missense_Mutation_p.G236A	NM_006281.3	NP_006272.2	Q13188	STK3_HUMAN	serine/threonine kinase 3	208	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|cell differentiation involved in embryonic placenta development (GO:0060706)|central nervous system development (GO:0007417)|endocardium development (GO:0003157)|hepatocyte apoptotic process (GO:0097284)|hippo signaling (GO:0035329)|intracellular signal transduction (GO:0035556)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of organ growth (GO:0046621)|neural tube formation (GO:0001841)|positive regulation of apoptotic process (GO:0043065)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of JNK cascade (GO:0046330)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|primitive hemopoiesis (GO:0060215)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein dimerization activity (GO:0046983)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activator activity (GO:0043539)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	17	Breast(36;2.4e-06)	Breast(495;0.106)	OV - Ovarian serous cystadenocarcinoma(57;0.0382)	KIRC - Kidney renal clear cell carcinoma(542;9.44e-06)		AGAAGTAATGCCAAGGGACCA	0.398																																						ENST00000523601.1																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	17						c.(706-708)gGc>gCc		serine/threonine kinase 3							107	108	108					8																	99718756		2069	4243	6312	SO:0001583	missense	6788				apoptosis|hippo signaling cascade|intracellular protein kinase cascade|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of apoptosis	cytoplasm|nucleus	ATP binding|magnesium ion binding|protein dimerization activity|protein serine/threonine kinase activator activity|protein serine/threonine kinase activity	g.chr8:99718756C>G	BC010640	CCDS47900.1, CCDS59108.1, CCDS75774.1	8q22.2	2011-05-24	2010-06-25		ENSG00000104375	ENSG00000104375			11406	protein-coding gene	gene with protein product		605030	"serine/threonine kinase 3 (Ste20, yeast homolog)"			8816758	Standard	NM_006281		Approved	MST2, KRS1	uc003yip.4	Q13188	OTTHUMG00000164651	ENST00000419617.2:c.623G>C	8.37:g.99718756C>G	ENSP00000390500:p.Gly208Ala					STK3_ENST00000419617.2_Missense_Mutation_p.G208A	p.G236A	NM_001256312.1	NP_001243241.1	Q13188	STK3_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.0382)	KIRC - Kidney renal clear cell carcinoma(542;9.44e-06)	8	1106	-	Breast(36;2.4e-06)	Breast(495;0.106)	208			Protein kinase.		A8K722|B3KYA7|Q15445|Q15801|Q96FM6	Missense_Mutation	SNP	ENST00000419617.2	37	c.707G>C	CCDS47900.1	.	.	.	.	.	.	.	.	.	.	C	16.57	3.159547	0.57368	.	.	ENSG00000104375	ENST00000419617;ENST00000523601	T;T	0.71934	-0.61;-0.61	5.0	5.0	0.66597	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.86456	0.5937	M	0.87381	2.88	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	D	0.89151	0.3523	10	0.87932	D	0	.	17.8821	0.88843	0.0:1.0:0.0:0.0	.	208;236	Q13188;B3KYA7	STK3_HUMAN;.	A	208;236	ENSP00000390500:G208A;ENSP00000429744:G236A	ENSP00000390500:G208A	G	-	2	0	STK3	99787932	1.000000	0.71417	1.000000	0.80357	0.004000	0.04260	7.794000	0.85869	2.308000	0.77769	0.563000	0.77884	GGC		0.398	STK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379635.1	NM_006281		4	97	0	0	0	1	0	4	97					G	99718756	C	G	99718756	3	3	138	1	0	0	0	0	1	0	0	0	15294	739	26	5	876	5	STK3	8	99718756	Missense_Mutation	SNP	C	TCGA-EJ-A8FU-01A-11D-A364-08	1429726	99718756	46645266	8	6954											
TMEM71	137835	broad.mit.edu	37	chr8	133764058	133764058	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agttctccttatacataacgCtggtctgggatgggttcaga	9	13	11	8	1	3	1	1	0	2	1	4	2	3	2	1	3	2	3	1	3	3	5			TCGA-EJ-A8FU-01A-11D-A364-08	TCGA-EJ-A8FU-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	293f781c-c2c7-479b-b1a6-5f951a2c5e5a	e77da017-5dc6-4e32-9568-755e4ee9b533	g.chr8:133764058C>T	ENST00000356838.3	-	4	429	c.287G>A	c.(286-288)aGc>aAc	p.S96N	TMEM71_ENST00000377901.4_Missense_Mutation_p.S96N|TMEM71_ENST00000523829.1_Missense_Mutation_p.S96N|TMEM71_ENST00000517538.1_5'UTR	NM_144649.2	NP_653250.2	Q6P5X7	TMM71_HUMAN	transmembrane protein 71	96						integral component of membrane (GO:0016021)		p.S96T(1)		endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|skin(2)	16	all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;4.46e-05)			ATACATAACGCTGGTCTGGGA	0.403																																						ENST00000356838.3																			1	Substitution - Missense(1)	p.S96T(1)	ovary(1)	endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|skin(2)	16						c.(286-288)aGc>aAc		transmembrane protein 71							162	147	152					8																	133764058		2203	4300	6503	SO:0001583	missense	137835					integral to membrane		g.chr8:133764058C>T	AK057631	CCDS6366.1, CCDS47921.1	8q24.22	2005-09-02				ENSG00000165071			26572	protein-coding gene	gene with protein product						12477932	Standard	NM_144649		Approved	FLJ33069	uc003ytn.3	Q6P5X7		ENST00000356838.3:c.287G>A	8.37:g.133764058C>T	ENSP00000349296:p.Ser96Asn					TMEM71_ENST00000523829.1_Missense_Mutation_p.S96N|TMEM71_ENST00000517538.1_5'UTR|TMEM71_ENST00000377901.4_Missense_Mutation_p.S96N	p.S96N	NM_144649.2	NP_653250.2	Q6P5X7	TMM71_HUMAN	BRCA - Breast invasive adenocarcinoma(115;4.46e-05)		4	429	-	all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155)		96					Q3KRC2|Q8WVZ4|Q96LX9	Missense_Mutation	SNP	ENST00000356838.3	37	c.287G>A	CCDS6366.1	.	.	.	.	.	.	.	.	.	.	C	11.92	1.782189	0.31502	.	.	ENSG00000165071	ENST00000523829;ENST00000356838;ENST00000377901;ENST00000519187	.	.	.	5.95	4.04	0.47022	.	0.208574	0.48767	D	0.000172	T	0.40956	0.1138	M	0.63843	1.955	0.29054	N	0.88435	B;B;P	0.42692	0.433;0.25;0.787	B;B;B	0.42959	0.183;0.084;0.403	T	0.38824	-0.9643	9	0.36615	T	0.2	-0.9598	9.1924	0.37207	0.0:0.647:0.278:0.075	.	96;96;96	Q6P5X7;Q6P5X7-3;Q6P5X7-2	TMM71_HUMAN;.;.	N	96	.	ENSP00000349296:S96N	S	-	2	0	TMEM71	133833240	0.999000	0.42202	0.990000	0.47175	0.148000	0.21650	1.367000	0.34204	1.507000	0.48752	0.655000	0.94253	AGC		0.403	TMEM71-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379591.1	NM_144649		7	115	0	0	0	1	0	7	115					T	133764058	C	T	133764058	3	4	138	1	0	0	0	0	1	0	0	0	16197	797	28	3	628	3	TMEM71	8	133764058	Missense_Mutation	SNP	C	TCGA-EJ-A8FU-01A-11D-A364-08	34045302	133764058	12599964	9	6955											
PIP5KL1	138429	broad.mit.edu	37	chr9	130688198	130688198	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tccttcagcaccagaacaagGgggctgccctcaggggcggg	8	5	15	13	1	2	1	2	0	0	1	3	1	3	1	3	5	3	2	3	5	2	1	rs199964448		TCGA-EJ-A8FU-01A-11D-A364-08	TCGA-EJ-A8FU-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	293f781c-c2c7-479b-b1a6-5f951a2c5e5a	e77da017-5dc6-4e32-9568-755e4ee9b533	g.chr9:130688198G>A	ENST00000388747.4	-	8	755	c.711C>T	c.(709-711)ccC>ccT	p.P237P	PIP5KL1_ENST00000490773.1_Intron|PIP5KL1_ENST00000300432.3_Silent_p.P34P	NM_001135219.1	NP_001128691.1	Q5T9C9	PI5L1_HUMAN	phosphatidylinositol-4-phosphate 5-kinase-like 1	237	PIPK. {ECO:0000255|PROSITE- ProRule:PRU00781}.					cell projection (GO:0042995)|cytoplasm (GO:0005737)|membrane (GO:0016020)	1-phosphatidylinositol-4-phosphate 5-kinase activity (GO:0016308)|ATP binding (GO:0005524)			endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|skin(1)	8						CCAGAACAAGGGGGCTGCCCT	0.582																																						ENST00000388747.4																			0				endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|skin(1)	8						c.(709-711)ccC>ccT		phosphatidylinositol-4-phosphate 5-kinase-like 1							53	52	52					9																	130688198		2203	4300	6503	SO:0001819	synonymous_variant	138429					cytoplasm|membrane	1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding	g.chr9:130688198G>A	BC042184	CCDS6885.1, CCDS48030.1	9q34.13	2008-02-05			ENSG00000167103	ENSG00000167103			28711	protein-coding gene	gene with protein product		612865				12477932	Standard	NM_001135219		Approved	bA203J24.5, MGC46424	uc011mao.2	Q5T9C9	OTTHUMG00000020719	ENST00000388747.4:c.711C>T	9.37:g.130688198G>A						PIP5KL1_ENST00000490773.1_Intron|PIP5KL1_ENST00000300432.3_Silent_p.P34P	p.P237P	NM_001135219.1	NP_001128691.1	Q5T9C9	PI5L1_HUMAN			8	755	-			237			PIPK.		Q8IVS3	Silent	SNP	ENST00000388747.4	37	c.711C>T	CCDS48030.1																																																																																				0.582	PIP5KL1-004	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054289.2	NM_173492		3	52	0	0	0	1	0	3	52					A	130688198	G	A	130688198	2	1	138	1	0	0	0	0	0	0	0	1	11942	1219	43	3		3	PIP5KL1	9	130688198	Silent	SNP	G	TCGA-EJ-A8FU-01A-11D-A364-08		130688198	10525233	10	6956											
OR4D5	219875	broad.mit.edu	37	chr11	123810795	123810795	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggggcttcatccactccataGtacagattgcattgactatc	10	12	8	11	0	1	2	1	1	0	1	4	2	3	2	2	2	2	3	2	2	3	6			TCGA-EJ-A8FU-01A-11D-A364-08	TCGA-EJ-A8FU-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	293f781c-c2c7-479b-b1a6-5f951a2c5e5a	e77da017-5dc6-4e32-9568-755e4ee9b533	g.chr11:123810795G>A	ENST00000307033.2	+	1	546	c.472G>A	c.(472-474)Gta>Ata	p.V158I		NM_001001965.1	NP_001001965.1	Q8NGN0	OR4D5_HUMAN	olfactory receptor, family 4, subfamily D, member 5	158						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		CCACTCCATAGTACAGATTGC	0.512																																						ENST00000307033.2																			0				autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						c.(472-474)Gta>Ata		olfactory receptor, family 4, subfamily D, member 5							102	95	98					11																	123810795		2202	4299	6501	SO:0001583	missense	219875				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:123810795G>A	BK004316	CCDS31699.1	11q24.1	2012-08-09			ENSG00000171014	ENSG00000171014		"GPCR / Class A : Olfactory receptors"	14852	protein-coding gene	gene with protein product							Standard	NM_001001965		Approved		uc001pzk.1	Q8NGN0	OTTHUMG00000165961	ENST00000307033.2:c.472G>A	11.37:g.123810795G>A	ENSP00000305970:p.Val158Ile						p.V158I	NM_001001965.1	NP_001001965.1	Q8NGN0	OR4D5_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)	1	546	+		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	158					B9EGZ4|Q6IFE6	Missense_Mutation	SNP	ENST00000307033.2	37	c.472G>A	CCDS31699.1	.	.	.	.	.	.	.	.	.	.	G	10.86	1.470139	0.26423	.	.	ENSG00000171014	ENST00000307033	T	0.37058	1.22	5.5	5.5	0.81552	GPCR, rhodopsin-like superfamily (1);	0.344162	0.20743	N	0.086507	T	0.21186	0.0510	N	0.13168	0.305	0.21386	N	0.999704	B	0.24186	0.099	B	0.34180	0.177	T	0.32851	-0.9891	10	0.05721	T	0.95	-3.6143	9.2281	0.37418	0.078:0.1476:0.7744:0.0	.	158	Q8NGN0	OR4D5_HUMAN	I	158	ENSP00000305970:V158I	ENSP00000305970:V158I	V	+	1	0	OR4D5	123316005	0.003000	0.15002	0.938000	0.37757	0.896000	0.52359	0.803000	0.27083	2.575000	0.86900	0.655000	0.94253	GTA		0.512	OR4D5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387263.1	NM_001001965		4	91	0	0	0	1	0	4	91					A	123810795	G	A	123810795	3	1	138	1	0	0	0	0	1	0	0	0	11057	1029	36	3	474	3	OR4D5	11	123810795	Missense_Mutation	SNP	G	TCGA-EJ-A8FU-01A-11D-A364-08		123810795	11195721	11	6957											
FBXO21	23014	broad.mit.edu	37	chr12	117624369	117624369	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caatgtcactgaagccattaCaaggaacctatgaagaagac	17	7	8	9	0	1	4	1	2	0	2	1	5	1	5	2	1	3	0	2	1	8	2			TCGA-EJ-A8FU-01A-11D-A364-08	TCGA-EJ-A8FU-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	293f781c-c2c7-479b-b1a6-5f951a2c5e5a	e77da017-5dc6-4e32-9568-755e4ee9b533	g.chr12:117624369C>T	ENST00000330622.5	-	3	382	c.383G>A	c.(382-384)tGt>tAt	p.C128Y	FBXO21_ENST00000427718.2_Missense_Mutation_p.C128Y|FBXO21_ENST00000549689.1_5'UTR			O94952	FBX21_HUMAN	F-box protein 21	128					protein ubiquitination (GO:0016567)|ubiquitin-dependent protein catabolic process (GO:0006511)	ubiquitin ligase complex (GO:0000151)	DNA binding (GO:0003677)|ubiquitin-protein transferase activity (GO:0004842)			breast(4)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|pancreas(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	29	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0291)		GAAGCCATTACAAGGAACCTA	0.383																																					GBM(168;452 2038 13535 17701 43680)	ENST00000427718.2																			0				breast(4)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|pancreas(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	29						c.(382-384)tGt>tAt		F-box protein 21							75	74	75					12																	117624369		2203	4300	6503	SO:0001583	missense	23014				ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	ubiquitin-protein ligase activity	g.chr12:117624369C>T	AB020682	CCDS9184.1, CCDS44989.1	12q24.23	2004-06-15	2004-06-15					"F-boxes /  "other""	13592	protein-coding gene	gene with protein product		609095	"F-box only protein 21"			10048485, 10531035	Standard	NM_033624		Approved	FBX21, KIAA0875	uc001twk.3	O94952	OTTHUMG00000169495	ENST00000330622.5:c.383G>A	12.37:g.117624369C>T	ENSP00000328187:p.Cys128Tyr					FBXO21_ENST00000330622.5_Missense_Mutation_p.C128Y|FBXO21_ENST00000549689.1_5'UTR	p.C128Y	NM_015002.2|NM_033624.2	NP_055817.1|NP_296373.1	O94952	FBX21_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.0291)	3	457	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		128					B3KMF0|Q5BJG0|Q9H087	Missense_Mutation	SNP	ENST00000330622.5	37	c.383G>A	CCDS9184.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.971702	0.74246	.	.	ENSG00000135108	ENST00000427718;ENST00000257563;ENST00000535590;ENST00000330622	T;T	0.42131	0.98;0.98	5.4	5.4	0.78164	F-box domain, Skp2-like (1);	0.126528	0.56097	D	0.000036	T	0.58906	0.2155	L	0.51422	1.61	0.58432	D	0.999996	D;D;P	0.65815	0.981;0.995;0.852	P;D;B	0.72982	0.491;0.979;0.36	T	0.50533	-0.8817	10	0.24483	T	0.36	-16.2303	18.7754	0.91910	0.0:1.0:0.0:0.0	.	44;128;128	Q8IUQ5;O94952;O94952-1	.;FBX21_HUMAN;.	Y	128;44;44;128	ENSP00000414468:C128Y;ENSP00000328187:C128Y	ENSP00000257563:C44Y	C	-	2	0	FBXO21	116108752	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	4.803000	0.62546	2.520000	0.84964	0.655000	0.94253	TGT		0.383	FBXO21-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000404409.1	NM_033624		7	76	0	0	0	1	0	7	76					T	117624369	C	T	117624369	3	4	138	1	0	0	0	0	1	0	0	0	5733	478	17	3	1543	3	FBXO21	12	117624369	Missense_Mutation	SNP	C	TCGA-EJ-A8FU-01A-11D-A364-08		117624369	16227526	12	6958											
FRY	10129	broad.mit.edu	37	chr13	32747510	32747510	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttattgcataacagctcatcGcaaatggctccagtcacaga	13	10	7	11	1	2	1	2	0	0	1	4	1	3	1	1	1	3	4	1	1	3	3			TCGA-EJ-A8FU-01A-11D-A364-08	TCGA-EJ-A8FU-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	293f781c-c2c7-479b-b1a6-5f951a2c5e5a	e77da017-5dc6-4e32-9568-755e4ee9b533	g.chr13:32747510G>A	ENST00000380250.3	+	19	2654	c.2158G>A	c.(2158-2160)Gca>Aca	p.A720T		NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	720						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		ACAGCTCATCGCAAATGGCTC	0.413																																						ENST00000380250.3																			0				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132						c.(2158-2160)Gca>Aca		furry homolog (Drosophila)							122	121	121					13																	32747510		1962	4154	6116	SO:0001583	missense	10129				regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane		g.chr13:32747510G>A	AL049784	CCDS41875.1	13q13.1	2008-02-05	2005-11-24	2005-11-24	ENSG00000073910	ENSG00000073910			20367	protein-coding gene	gene with protein product		614818	"chromosome 13 open reading frame 14"	C13orf14		14702039, 8812419	Standard	NM_023037		Approved	bA37E23.1, 13CDNA73, CG003	uc001utx.3	Q5TBA9	OTTHUMG00000016696	ENST00000380250.3:c.2158G>A	13.37:g.32747510G>A	ENSP00000369600:p.Ala720Thr						p.A720T	NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)	19	2654	+		Lung SC(185;0.0271)	720					Q9Y3N6	Missense_Mutation	SNP	ENST00000380250.3	37	c.2158G>A	CCDS41875.1	.	.	.	.	.	.	.	.	.	.	G	15.80	2.939465	0.52972	.	.	ENSG00000073910	ENST00000380250	T	0.23754	1.89	6.02	-4.64	0.03349	.	0.729557	0.14356	N	0.324749	T	0.13072	0.0317	N	0.04959	-0.14	0.23435	N	0.997685	B	0.18610	0.029	B	0.17433	0.018	T	0.06197	-1.0840	10	0.21014	T	0.42	.	21.2827	0.99950	0.0:0.6982:0.2469:0.0549	.	720	Q5TBA9	FRY_HUMAN	T	720	ENSP00000369600:A720T	ENSP00000369600:A720T	A	+	1	0	FRY	31645510	0.151000	0.22747	0.000000	0.03702	0.424000	0.31475	0.674000	0.25218	-1.225000	0.02578	-0.171000	0.13296	GCA		0.413	FRY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044405.1	NM_023037		6	77	0	0	0	1	0	6	77					A	32747510	G	A	32747510	3	1	138	1	0	0	0	0	1	0	0	0	6063	1087	38	1	2232	1	FRY	13	32747510	Missense_Mutation	SNP	G	TCGA-EJ-A8FU-01A-11D-A364-08		32747510	82422368	13	6959											
SRP54	6729	broad.mit.edu	37	chr14	35480857	35480857	+	Frame_Shift_Del	DEL	A	A	-																															aagaaatgcttcaagttgctAatgctatagtaagtagcttt																										TCGA-EJ-A8FU-01A-11D-A364-08	TCGA-EJ-A8FU-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	293f781c-c2c7-479b-b1a6-5f951a2c5e5a	e77da017-5dc6-4e32-9568-755e4ee9b533	g.chr14:35480857delA	ENST00000556994.1	+	9	1025	c.628delA	c.(628-630)aatfs	p.N210fs	SRP54_ENST00000546080.1_Frame_Shift_Del_p.N161fs|SRP54_ENST00000216774.6_Frame_Shift_Del_p.N210fs|SRP54_ENST00000555557.1_Frame_Shift_Del_p.N146fs			P61011	SRP54_HUMAN	signal recognition particle 54kDa	210	G-domain.				cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|GTP catabolic process (GO:0006184)|protein targeting to ER (GO:0045047)|response to drug (GO:0042493)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|SRP-dependent cotranslational protein targeting to membrane, signal sequence recognition (GO:0006617)|SRP-dependent cotranslational protein targeting to membrane, translocation (GO:0006616)|translation (GO:0006412)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleus (GO:0005634)|signal recognition particle, endoplasmic reticulum targeting (GO:0005786)	7S RNA binding (GO:0008312)|drug binding (GO:0008144)|endoplasmic reticulum signal peptide binding (GO:0030942)|GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|ribonucleoprotein complex binding (GO:0043021)			NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	14	Breast(36;0.0545)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(48;2.48e-05)|Lung(238;3.13e-05)|Epithelial(34;0.0314)|all cancers(34;0.0797)|BRCA - Breast invasive adenocarcinoma(188;0.243)	GBM - Glioblastoma multiforme(112;0.0396)		TCAAGTTGCTAATGCTATAGT	0.274																																						ENST00000556994.1																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	14						c.(628-630)atfs		signal recognition particle 54kDa							57	60	59					14																	35480857		2203	4298	6501	SO:0001589	frameshift_variant	6729				GTP catabolic process|response to drug|SRP-dependent cotranslational protein targeting to membrane, signal sequence recognition|SRP-dependent cotranslational protein targeting to membrane, translocation	cytosol|nuclear speck|signal recognition particle, endoplasmic reticulum targeting	7S RNA binding|drug binding|endoplasmic reticulum signal peptide binding|GDP binding|GTP binding|nucleoside-triphosphatase activity|ribonucleoprotein binding	g.chr14:35480857delA	X86373	CCDS9652.1, CCDS53893.1	14q13.2	2014-06-02	2002-08-29		ENSG00000100883	ENSG00000100883			11301	protein-coding gene	gene with protein product		604857	"signal recognition particle 54kD"			8722571	Standard	NM_003136		Approved		uc001wso.3	P61011	OTTHUMG00000140214	ENST00000556994.1:c.628delA	14.37:g.35480857delA	ENSP00000451818:p.Asn210fs					SRP54_ENST00000216774.6_Frame_Shift_Del_p.N210fs|SRP54_ENST00000546080.1_Frame_Shift_Del_p.N161fs|SRP54_ENST00000555557.1_Frame_Shift_Del_p.N146fs	p.N210fs			P61011	SRP54_HUMAN	LUAD - Lung adenocarcinoma(48;2.48e-05)|Lung(238;3.13e-05)|Epithelial(34;0.0314)|all cancers(34;0.0797)|BRCA - Breast invasive adenocarcinoma(188;0.243)	GBM - Glioblastoma multiforme(112;0.0396)	9	1025	+	Breast(36;0.0545)|Hepatocellular(127;0.158)		210			G-domain.		B2R759|B4DUW6|P13624	Frame_Shift_Del	DEL	ENST00000556994.1	37	c.628delA	CCDS9652.1																																																																																				0.274	SRP54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276643.2	NM_003136		9	174						9	174	---	---	---	---	-	35480857	A	-	35480857	7	5	138	1	0	1	0	1	0	0	0	0	15154	362	13	0	654	0	SRP54	14	35480857	Frame_Shift_Del	DEL	A	TCGA-EJ-A8FU-01A-11D-A364-08		35480857	71868683	14	6960											
CTCFL	140690	broad.mit.edu	37	chr20	56093824	56093824	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	atggctttacctccacactgGcatacttgcacatggaacat	11	11	7	12	0	0	0	0	0	0	0	1	1	1	1	2	3	4	3	2	3	3	4			TCGA-EJ-A8FU-01A-11D-A364-08	TCGA-EJ-A8FU-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	293f781c-c2c7-479b-b1a6-5f951a2c5e5a	e77da017-5dc6-4e32-9568-755e4ee9b533	g.chr20:56093824G>A	ENST00000608263.1	-	4	1710	c.1049C>T	c.(1048-1050)gCc>gTc	p.A350V	CTCFL_ENST00000433949.3_Missense_Mutation_p.A145V|CTCFL_ENST00000608858.1_5'UTR|CTCFL_ENST00000608158.1_Missense_Mutation_p.A350V|CTCFL_ENST00000243914.3_Missense_Mutation_p.A350V|CTCFL_ENST00000429804.3_Missense_Mutation_p.A350V|CTCFL_ENST00000608425.1_Missense_Mutation_p.A350V|CTCFL_ENST00000539382.1_Missense_Mutation_p.A145V|CTCFL_ENST00000422869.2_Missense_Mutation_p.A350V|CTCFL_ENST00000609232.1_Missense_Mutation_p.A350V|CTCFL_ENST00000432255.2_Missense_Mutation_p.A350V|CTCFL_ENST00000502686.2_Missense_Mutation_p.A88V|CTCFL_ENST00000481655.2_Missense_Mutation_p.A350V|CTCFL_ENST00000371196.2_Missense_Mutation_p.A350V|CTCFL_ENST00000608903.1_Missense_Mutation_p.A88V|CTCFL_ENST00000608440.1_Missense_Mutation_p.A350V|CTCFL_ENST00000423479.3_Missense_Mutation_p.A350V	NM_001269041.1	NP_001255970.1	Q8NI51	CTCFL_HUMAN	CCCTC-binding factor (zinc finger protein)-like	350					cell cycle (GO:0007049)|DNA methylation involved in gamete generation (GO:0043046)|histone methylation (GO:0016571)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of histone H3-K4 methylation (GO:0051569)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone binding (GO:0042393)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(28)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58	Lung NSC(12;0.00132)|all_lung(29;0.00433)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;3.95e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.09e-07)			CTCCACACTGGCATACTTGCA	0.443																																						ENST00000426658.2																			0				NS(1)|breast(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(28)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						c.(1048-1050)gCc>gTc		CCCTC-binding factor (zinc finger protein)-like							193	180	184					20																	56093824		2203	4300	6503	SO:0001583	missense	140690				cell cycle|DNA methylation involved in gamete generation|histone methylation|positive regulation of transcription, DNA-dependent|regulation of gene expression by genetic imprinting|regulation of histone H3-K4 methylation|transcription, DNA-dependent	cytoplasm|nucleus	histone binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding	g.chr20:56093824G>A		CCDS13459.1, CCDS58776.1, CCDS58777.1, CCDS58778.1, CCDS58779.1, CCDS58780.1, CCDS58781.1, CCDS58782.1, CCDS68161.1, CCDS68162.1, CCDS68163.1, CCDS68164.1	20q13.31	2013-01-08			ENSG00000124092	ENSG00000124092		"Zinc fingers, C2H2-type"	16234	protein-coding gene	gene with protein product	"cancer/testis antigen 27"	607022					Standard	NM_001269040		Approved	dJ579F20.2, BORIS, CT27	uc010giw.1	Q8NI51	OTTHUMG00000032829	ENST00000608263.1:c.1049C>T	20.37:g.56093824G>A	ENSP00000476783:p.Ala350Val					CTCFL_ENST00000423479.2_Missense_Mutation_p.A350V|CTCFL_ENST00000539382.1_Missense_Mutation_p.A145V|CTCFL_ENST00000502686.2_Missense_Mutation_p.A88V|CTCFL_ENST00000243914.3_Missense_Mutation_p.A350V|CTCFL_ENST00000432255.2_Missense_Mutation_p.A350V|CTCFL_ENST00000422869.2_Missense_Mutation_p.A350V|CTCFL_ENST00000429804.2_Missense_Mutation_p.A350V|CTCFL_ENST00000371196.2_Missense_Mutation_p.A350V|CTCFL_ENST00000433949.2_Missense_Mutation_p.A350V|CTCFL_ENST00000422109.2_Missense_Mutation_p.A350V|CTCFL_ENST00000481655.1_5'UTR	p.A350V			Q8NI51	CTCFL_HUMAN	BRCA - Breast invasive adenocarcinoma(13;3.95e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.09e-07)		4	1710	-	Lung NSC(12;0.00132)|all_lung(29;0.00433)|Melanoma(10;0.242)		350					A0S6W1|A1L4C6|A6XGL8|A6XGM2|A6XGM3|A6XGM8|A6XGN0|A6XGN1|A6XGN2|A6XGN3|A6XGN4|E7EQ27|E7EUE3|E9PBA9|Q5JUG4|Q9BZ30|Q9NQJ3	Missense_Mutation	SNP	ENST00000608263.1	37	c.1049C>T	CCDS13459.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.384711	0.82792	.	.	ENSG00000124092	ENST00000423479;ENST00000243914;ENST00000371196;ENST00000429804;ENST00000433949;ENST00000502686;ENST00000422109;ENST00000426658;ENST00000432255;ENST00000539382;ENST00000422869	T;T;T;T;T;T;T;T;T;T;T	0.19105	3.12;3.12;3.12;2.17;3.12;3.12;2.17;3.12;2.17;3.12;3.12	4.77	4.77	0.60923	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.41294	D	0.000902	T	0.39064	0.1064	L	0.41632	1.29	0.42331	D	0.992293	D;D;P;D;D;P;D;D	0.89917	1.0;0.994;0.89;1.0;0.999;0.94;0.999;0.999	D;D;P;D;D;P;D;D	0.87578	0.989;0.963;0.758;0.998;0.985;0.897;0.985;0.985	T	0.25847	-1.0120	10	0.72032	D	0.01	-29.0302	16.9368	0.86205	0.0:0.0:1.0:0.0	.	350;350;350;350;350;350;350;350	A6XGM3;A6XGM0;A6XGM9;A6XGM8;A6XGM2;E7EUE3;A6XGL8;Q8NI51	.;.;.;.;.;.;.;CTCFL_HUMAN	V	350;350;350;350;350;88;350;350;350;145;350	ENSP00000415579:A350V;ENSP00000243914:A350V;ENSP00000360239:A350V;ENSP00000415329:A350V;ENSP00000392034:A350V;ENSP00000437999:A88V;ENSP00000413713:A350V;ENSP00000403369:A350V;ENSP00000409344:A350V;ENSP00000439998:A145V;ENSP00000399061:A350V	ENSP00000243914:A350V	A	-	2	0	CTCFL	55527230	1.000000	0.71417	0.386000	0.26170	0.637000	0.38172	5.077000	0.64419	2.346000	0.79739	0.591000	0.81541	GCC		0.443	CTCFL-019	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000472040.1	NM_080618		4	157	0	0	0	1	0	4	157					A	56093824	G	A	56093824	3	1	138	1	0	0	0	0	1	0	0	0	4001	1203	42	3	970	3	CTCFL	20	56093824	Missense_Mutation	SNP	G	TCGA-EJ-A8FU-01A-11D-A364-08		56093824	6931696	15	6961											
CABIN1	23523	broad.mit.edu	37	chr22	24530349	24530349	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cacatgccggcacaggggctCttctgcgagaggaacaagac	11	5	13	12	2	2	2	0	0	2	2	2	4	2	3	1	4	3	2	1	4	2	1			TCGA-EJ-A8FU-01A-11D-A364-08	TCGA-EJ-A8FU-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	293f781c-c2c7-479b-b1a6-5f951a2c5e5a	e77da017-5dc6-4e32-9568-755e4ee9b533	g.chr22:24530349C>G	ENST00000398319.2	+	29	5098	c.4713C>G	c.(4711-4713)ctC>ctG	p.L1571L	CABIN1_ENST00000263119.5_Silent_p.L1571L|CABIN1_ENST00000405822.2_Silent_p.L1492L	NM_001199281.1	NP_001186210.1	Q9Y6J0	CABIN_HUMAN	calcineurin binding protein 1	1571					cell surface receptor signaling pathway (GO:0007166)|chromatin modification (GO:0016568)|DNA replication-independent nucleosome assembly (GO:0006336)|negative regulation of catalytic activity (GO:0043086)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein phosphatase inhibitor activity (GO:0004864)			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						CACAGGGGCTCTTCTGCGAGA	0.532																																						ENST00000398319.2																			0				breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						c.(4711-4713)ctC>ctG		calcineurin binding protein 1							71	60	64					22																	24530349		2203	4300	6503	SO:0001819	synonymous_variant	23523				cell surface receptor linked signaling pathway|chromatin modification	nucleus	protein phosphatase inhibitor activity	g.chr22:24530349C>G	AF072441	CCDS13823.1, CCDS74830.1	22q11.23	2008-09-16			ENSG00000099991	ENSG00000099991			24187	protein-coding gene	gene with protein product		604251				9655484, 9205841	Standard	NM_001199281		Approved	KIAA0330, PPP3IN	uc002zzi.1	Q9Y6J0	OTTHUMG00000150797	ENST00000398319.2:c.4713C>G	22.37:g.24530349C>G						CABIN1_ENST00000405822.2_Silent_p.L1492L|CABIN1_ENST00000263119.5_Silent_p.L1571L	p.L1571L	NM_001199281.1	NP_001186210.1	Q9Y6J0	CABIN_HUMAN			29	5098	+			1571					G5E9F3|Q6PHY0|Q9Y460	Silent	SNP	ENST00000398319.2	37	c.4713C>G	CCDS13823.1																																																																																				0.532	CABIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320161.2	NM_012295		3	18	0	0	0	1	0	3	18					G	24530349	C	G	24530349	2	3	138	1	0	0	0	0	0	0	0	1	2528	900	32	5		5	CABIN1	22	24530349	Silent	SNP	C	TCGA-EJ-A8FU-01A-11D-A364-08		24530349	26774217	16	6962											
LRP5L	91355	broad.mit.edu	37	chr22	25753228	25753228	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	catgggagcctcacctcgatCttgtctgtcttggcatctcc	5	13	9	14	1	5	0	1	0	4	0	7	2	5	1	3	2	1	1	3	2	0	2			TCGA-EJ-A8FU-01A-11D-A364-08	TCGA-EJ-A8FU-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	293f781c-c2c7-479b-b1a6-5f951a2c5e5a	e77da017-5dc6-4e32-9568-755e4ee9b533	g.chr22:25753228C>G	ENST00000402785.2	-	2	528	c.432G>C	c.(430-432)aaG>aaC	p.K144N	LRP5L_ENST00000402859.2_Missense_Mutation_p.K144N|LRP5L_ENST00000444995.3_Missense_Mutation_p.K144N			A4QPB2	LRP5L_HUMAN	low density lipoprotein receptor-related protein 5-like	144					canonical Wnt signaling pathway (GO:0060070)|Wnt signaling pathway involved in dorsal/ventral axis specification (GO:0044332)		Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(2)	6						TCACCTCGATCTTGTCTGTCT	0.657																																						ENST00000444995.3																			0				central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(2)	6						c.(430-432)aaG>aaC		low density lipoprotein receptor-related protein 5-like							117	91	100					22																	25753228		2201	4300	6501	SO:0001583	missense	91355							g.chr22:25753228C>G	AL137651	CCDS33626.1	22q11.23	2013-05-30			ENSG00000100068	ENSG00000100068			25323	protein-coding gene	gene with protein product							Standard	NM_182492		Approved	DKFZp434O0213	uc011ajz.2	A4QPB2	OTTHUMG00000150900	ENST00000402785.2:c.432G>C	22.37:g.25753228C>G	ENSP00000384562:p.Lys144Asn					LRP5L_ENST00000402859.2_Missense_Mutation_p.K144N|LRP5L_ENST00000402785.2_Missense_Mutation_p.K144N	p.K144N			A4QPB2	LRP5L_HUMAN			5	1132	-			144					B0QYF3|B0QYF4|B2RPI5	Missense_Mutation	SNP	ENST00000402785.2	37	c.432G>C	CCDS33626.1	.	.	.	.	.	.	.	.	.	.	c	10.59	1.394165	0.25205	.	.	ENSG00000100068	ENST00000402859;ENST00000444995;ENST00000402785	D;D;D	0.96459	-4.02;-4.02;-4.02	2.25	-1.41	0.08941	Six-bladed beta-propeller, TolB-like (1);	.	.	.	.	D	0.97315	0.9122	M	0.88640	2.97	0.45662	D	0.998586	D;D	0.71674	0.997;0.998	P;D	0.65010	0.886;0.931	D	0.94999	0.8141	9	0.59425	D	0.04	.	6.4421	0.21854	0.0:0.4236:0.0:0.5764	.	144;144	A4QPB2-2;A4QPB2	.;LRP5L_HUMAN	N	144	ENSP00000384291:K144N;ENSP00000407283:K144N;ENSP00000384562:K144N	ENSP00000384562:K144N	K	-	3	2	LRP5L	24083228	1.000000	0.71417	0.962000	0.40283	0.102000	0.19082	0.872000	0.28037	-0.311000	0.08754	0.173000	0.16961	AAG		0.657	LRP5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320477.2	NM_182492		5	45	0	0	0	1	0	5	45					G	25753228	C	G	25753228	3	3	138	1	0	0	0	0	1	0	0	0	8961	912	32	5	338	5	LRP5L	22	25753228	Missense_Mutation	SNP	C	TCGA-EJ-A8FU-01A-11D-A364-08	1222879	25753228	25551338	17	6963											
FAM83F	113828	broad.mit.edu	37	chr22	40415250	40415250	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	atgctgcctgtaagcgccggGtcccagtgtacatcatcctg	7	10	11	13	2	1	0	1	0	0	0	3	0	3	0	4	1	4	3	4	1	2	2			TCGA-EJ-A8FU-01A-11D-A364-08	TCGA-EJ-A8FU-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	293f781c-c2c7-479b-b1a6-5f951a2c5e5a	e77da017-5dc6-4e32-9568-755e4ee9b533	g.chr22:40415250G>C	ENST00000333407.6	+	2	662	c.568G>C	c.(568-570)Gtc>Ctc	p.V190L	FAM83F_ENST00000473717.1_Missense_Mutation_p.V22L	NM_138435.2	NP_612444.2	Q8NEG4	FA83F_HUMAN	family with sequence similarity 83, member F	190										breast(1)|endometrium(2)|large_intestine(1)|lung(4)|skin(4)|urinary_tract(2)	14						TAAGCGCCGGGTCCCAGTGTA	0.532																																						ENST00000333407.5																			0				breast(1)|endometrium(2)|large_intestine(1)|lung(4)|skin(4)|urinary_tract(2)	14						c.(568-570)Gtc>Ctc		family with sequence similarity 83, member F							185	143	157					22																	40415250		2203	4300	6503	SO:0001583	missense	113828							g.chr22:40415250G>C		CCDS14000.2	22q13.1	2006-03-22			ENSG00000133477	ENSG00000133477			25148	protein-coding gene	gene with protein product						12477932	Standard	NM_138435		Approved		uc003ayk.1	Q8NEG4	OTTHUMG00000150688	ENST00000333407.6:c.568G>C	22.37:g.40415250G>C	ENSP00000330432:p.Val190Leu					FAM83F_ENST00000473717.1_3'UTR	p.V190L	NM_138435.2	NP_612444.2	Q8NEG4	FA83F_HUMAN			2	662	+			190					Q96FD6	Missense_Mutation	SNP	ENST00000333407.6	37	c.568G>C	CCDS14000.2	.	.	.	.	.	.	.	.	.	.	G	22.9	4.348832	0.82132	.	.	ENSG00000133477	ENST00000333407	T	0.20738	2.05	4.94	4.94	0.65067	.	0.067471	0.64402	D	0.000014	T	0.45074	0.1324	M	0.89414	3.03	0.48830	D	0.999716	D	0.58970	0.984	P	0.55871	0.786	T	0.52540	-0.8562	10	0.66056	D	0.02	-45.389	12.1949	0.54292	0.0888:0.0:0.9111:0.0	.	190	Q8NEG4	FA83F_HUMAN	L	190	ENSP00000330432:V190L	ENSP00000330432:V190L	V	+	1	0	FAM83F	38745196	1.000000	0.71417	1.000000	0.80357	0.775000	0.43874	6.872000	0.75536	2.560000	0.86352	0.561000	0.74099	GTC		0.532	FAM83F-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319624.3	NM_138435		3	83	0	0	0	1	0	3	83					C	40415250	G	C	40415250	3	2	138	1	0	0	0	0	1	0	0	0	5638	1261	44	5	574	5	FAM83F	22	40415250	Missense_Mutation	SNP	G	TCGA-EJ-A8FU-01A-11D-A364-08	14662022	40415250	10889316	18	6964											
LPPR4	9890	broad.mit.edu	37	chr1	99772424	99772424	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcgaaattggctcagagaCgctgtccatttcttcttccc	8	12	8	13	2	3	1	1	0	2	1	5	3	5	1	2	1	1	2	2	1	1	4			TCGA-EJ-AB20-01A-12D-A41K-08	TCGA-EJ-AB20-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42430570-8b50-44a2-88bc-57b1aab9fad7	aad0c72f-096f-4d7b-8cf7-46c5ab0939d5	g.chr1:99772424C>T	ENST00000370185.3	+	7	2647	c.2150C>T	c.(2149-2151)aCg>aTg	p.T717M	LPPR4_ENST00000370184.1_Missense_Mutation_p.T559M|LPPR4_ENST00000457765.1_Missense_Mutation_p.T659M	NM_014839.4	NP_055654.2	Q7Z2D5	LPPR4_HUMAN		717					axonogenesis (GO:0007409)|inner ear development (GO:0048839)|phospholipid dephosphorylation (GO:0046839)	integral component of plasma membrane (GO:0005887)	lipid phosphatase activity (GO:0042577)|phosphatidate phosphatase activity (GO:0008195)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(39)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	72		all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202)		Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22)		GGCTCAGAGACGCTGTCCATT	0.502																																						ENST00000370185.3																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(39)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	72						c.(2149-2151)aCg>aTg									68	61	63					1																	99772424		2203	4300	6503	SO:0001583	missense	0						phosphatidate phosphatase activity	g.chr1:99772424C>T																												ENST00000370185.3:c.2150C>T	1.37:g.99772424C>T	ENSP00000359204:p.Thr717Met					LPPR4_ENST00000370184.1_Missense_Mutation_p.T559M|LPPR4_ENST00000457765.1_Missense_Mutation_p.T659M	p.T717M	NM_014839.4	NP_055654.2	Q7Z2D5	LPPR4_HUMAN		Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22)	7	2647	+		all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202)	717					E7EPS1|O75043|Q5T9R9|Q86XQ5|Q8N3F1|Q96MP0	Missense_Mutation	SNP	ENST00000370185.3	37	c.2150C>T	CCDS757.1	.	.	.	.	.	.	.	.	.	.	C	16.54	3.151865	0.57151	.	.	ENSG00000117600	ENST00000370185;ENST00000457765;ENST00000370184	T;T;T	0.25085	2.39;2.39;1.82	6.02	6.02	0.97574	.	0.107851	0.64402	D	0.000005	T	0.28466	0.0704	L	0.36672	1.1	0.49299	D	0.999776	P;D	0.71674	0.871;0.998	B;P	0.56865	0.385;0.808	T	0.00279	-1.1853	9	.	.	.	-23.0053	20.5407	0.99260	0.0:1.0:0.0:0.0	.	659;717	E7EPS1;Q7Z2D5	.;LPPR4_HUMAN	M	717;659;559	ENSP00000359204:T717M;ENSP00000394913:T659M;ENSP00000359203:T559M	.	T	+	2	0	RP4-788L13.1	99545012	0.996000	0.38824	0.985000	0.45067	0.950000	0.60333	2.778000	0.47726	2.865000	0.98341	0.655000	0.94253	ACG		0.502	LPPR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029670.2			17	27	0	0	0	1	0	17	27					T	99772424	C	T	99772424	3	4	139	1	0	0	0	0	1	0	0	0	8927	536	19	1	2176	1	LPPR4	1	99772424	Missense_Mutation	SNP	C	TCGA-EJ-AB20-01A-12D-A41K-08		99772424	149478197	1	6965											
C1orf125	126859	broad.mit.edu	37	chr1	179380298	179380298	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagaatagtagaagaatatcAtgacttatatacattacaaa	20	12	5	4	0	1	4	1	1	0	3	1	4	1	4	0	0	2	1	0	0	12	8			TCGA-EJ-AB20-01A-12D-A41K-08	TCGA-EJ-AB20-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42430570-8b50-44a2-88bc-57b1aab9fad7	aad0c72f-096f-4d7b-8cf7-46c5ab0939d5	g.chr1:179380298A>G	ENST00000367618.3	+	12	1514	c.1127A>G	c.(1126-1128)cAt>cGt	p.H376R	AXDND1_ENST00000457238.2_Missense_Mutation_p.H376R|AXDND1_ENST00000461179.2_3'UTR	NM_144696.4	NP_653297.3	Q5T1B0	AXDN1_HUMAN	axonemal dynein light chain domain containing 1	376										NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(27)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	59						GAAGAATATCATGACTTATAT	0.279																																						ENST00000367618.3																			0				NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(27)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	59						c.(1126-1128)cAt>cGt		axonemal dynein light chain domain containing 1							58	69	65					1																	179380298		2203	4296	6499	SO:0001583	missense	126859							g.chr1:179380298A>G	BX647935	CCDS30948.1	1q25.2	2011-02-18	2011-02-18	2011-02-18	ENSG00000162779	ENSG00000162779			26564	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 125"	C1orf125		14702039	Standard	NM_144696		Approved	FLJ32940	uc001gmo.3	Q5T1B0	OTTHUMG00000035266	ENST00000367618.3:c.1127A>G	1.37:g.179380298A>G	ENSP00000356590:p.His376Arg					AXDND1_ENST00000457238.2_Missense_Mutation_p.H376R|AXDND1_ENST00000461179.2_3'UTR	p.H376R	NM_144696.4	NP_653297.3	Q5T1B0	AXDN1_HUMAN			12	1514	+			376					Q6AWB2|Q96LJ3|Q96M01	Missense_Mutation	SNP	ENST00000367618.3	37	c.1127A>G	CCDS30948.1	.	.	.	.	.	.	.	.	.	.	A	11.75	1.731095	0.30684	.	.	ENSG00000162779	ENST00000367618;ENST00000360322;ENST00000457238;ENST00000434088	T;T;T	0.51817	1.94;0.69;1.98	5.18	4.05	0.47172	.	0.122857	0.56097	D	0.000028	T	0.50565	0.1623	L	0.29908	0.895	0.30916	N	0.728547	D;D;P	0.76494	0.991;0.999;0.687	D;D;B	0.85130	0.991;0.997;0.259	T	0.50372	-0.8836	10	0.36615	T	0.2	-9.3555	7.1124	0.25399	0.9004:0.0:0.0996:0.0	.	334;376;376	E9PCJ4;Q5T1B0;F5GWM2	.;AXDN1_HUMAN;.	R	376;334;376;310	ENSP00000356590:H376R;ENSP00000416712:H376R;ENSP00000391716:H310R	ENSP00000353471:H334R	H	+	2	0	AXDND1	177646921	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	2.620000	0.46410	2.064000	0.61679	0.477000	0.44152	CAT		0.279	AXDND1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085312.1	NM_144696		4	57	0	0	0	1	0	4	57					G	179380298	A	G	179380298	3	3	139	1	0	0	0	0	1	0	0	0	1993	217	8	4	1169	4	C1orf125	1	179380298	Missense_Mutation	SNP	A	TCGA-EJ-AB20-01A-12D-A41K-08	79607874	179380298	69870323	2	6966											
LRP2	4036	broad.mit.edu	37	chr2	170134406	170134406	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gttgctgccatccatgaatgCcctttccagcttaggttccc	6	13	8	14	0	0	1	0	1	0	0	3	1	3	1	5	1	4	4	5	1	2	4			TCGA-EJ-AB20-01A-12D-A41K-08	TCGA-EJ-AB20-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42430570-8b50-44a2-88bc-57b1aab9fad7	aad0c72f-096f-4d7b-8cf7-46c5ab0939d5	g.chr2:170134406C>T	ENST00000263816.3	-	13	1906	c.1621G>A	c.(1621-1623)Gca>Aca	p.A541T	LRP2_ENST00000443831.1_Intron	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	541					cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"	TCCATGAATGCCCTTTCCAGC	0.423																																						ENST00000263816.3																			0				biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315						c.(1621-1623)Gca>Aca		low density lipoprotein receptor-related protein 2	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)						119	116	117					2																	170134406		2203	4300	6503	SO:0001583	missense	4036				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding	g.chr2:170134406C>T		CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"Low density lipoprotein receptors"	6694	protein-coding gene	gene with protein product	"megalin"	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.1621G>A	2.37:g.170134406C>T	ENSP00000263816:p.Ala541Thr					LRP2_ENST00000443831.1_Intron	p.A541T	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN		STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	13	1906	-			541					O00711|Q16215	Missense_Mutation	SNP	ENST00000263816.3	37	c.1621G>A	CCDS2232.1	.	.	.	.	.	.	.	.	.	.	C	23.8	4.456547	0.84317	.	.	ENSG00000081479	ENST00000263816	D	0.91464	-2.85	5.79	5.79	0.91817	Six-bladed beta-propeller, TolB-like (1);	0.048540	0.85682	D	0.000000	D	0.95516	0.8543	M	0.77712	2.385	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.94729	0.7908	10	0.49607	T	0.09	.	20.0377	0.97569	0.0:1.0:0.0:0.0	.	541	P98164	LRP2_HUMAN	T	541	ENSP00000263816:A541T	ENSP00000263816:A541T	A	-	1	0	LRP2	169842652	1.000000	0.71417	1.000000	0.80357	0.359000	0.29487	7.697000	0.84279	2.736000	0.93811	0.555000	0.69702	GCA		0.423	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2	NM_004525		4	108	0	0	0	1	0	4	108					T	170134406	C	T	170134406	3	4	139	1	0	0	0	0	1	0	0	0	8956	739	26	3	12614	3	LRP2	2	170134406	Missense_Mutation	SNP	C	TCGA-EJ-AB20-01A-12D-A41K-08		170134406	73064967	3	6967											
UGT1A7	54577	broad.mit.edu	37	chr2	234591304	234591304	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ttctccaaacccctgtcacgGcatatgatctctacagccac	10	10	5	16	1	3	1	1	1	2	0	5	1	3	1	4	1	3	1	4	1	3	3			TCGA-EJ-AB20-01A-12D-A41K-08	TCGA-EJ-AB20-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42430570-8b50-44a2-88bc-57b1aab9fad7	aad0c72f-096f-4d7b-8cf7-46c5ab0939d5	g.chr2:234591304G>A	ENST00000373426.3	+	1	721	c.721G>A	c.(721-723)Gca>Aca	p.A241T	UGT1A1_ENST00000373450.4_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A1_ENST00000609637.1_Intron	NM_019077.2	NP_061950.2	Q9HAW7	UD17_HUMAN	UDP glucuronosyltransferase 1 family, polypeptide A7	241					cellular glucuronidation (GO:0052695)|coumarin metabolic process (GO:0009804)|drug metabolic process (GO:0017144)|excretion (GO:0007588)|flavone metabolic process (GO:0051552)|flavonoid glucuronidation (GO:0052696)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cellular glucuronidation (GO:2001030)|negative regulation of fatty acid metabolic process (GO:0045922)|retinoic acid metabolic process (GO:0042573)|xenobiotic glucuronidation (GO:0052697)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	drug binding (GO:0008144)|enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|glucuronosyltransferase activity (GO:0015020)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase C binding (GO:0005080)|retinoic acid binding (GO:0001972)			NS(1)|endometrium(6)|kidney(5)|large_intestine(5)|liver(1)|lung(12)|ovary(1)|prostate(1)|skin(1)	33		Breast(86;0.000765)|all_lung(227;0.00267)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0457)|Lung SC(224;0.128)		Epithelial(121;8.93e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000412)|Lung(119;0.00333)|LUSC - Lung squamous cell carcinoma(224;0.00746)	Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)	CCCTGTCACGGCATATGATCT	0.413																																						ENST00000373426.3																			0				NS(1)|endometrium(6)|kidney(5)|large_intestine(5)|liver(1)|lung(12)|ovary(1)|prostate(1)|skin(1)	33						c.(721-723)Gca>Aca									202	212	208					2																	234591304		2203	4300	6503	SO:0001583	missense	0							g.chr2:234591304G>A	U39570	CCDS2506.1	2q37	2010-03-05	2005-07-20		ENSG00000244122	ENSG00000244122		"UDP glucuronosyltransferases"	12539	other	complex locus constituent		606432	"UDP glycosyltransferase 1 family, polypeptide A6"			9295054, 11434514	Standard	NM_019077		Approved	UGT1G		Q9HAW7	OTTHUMG00000059004	ENST00000373426.3:c.721G>A	2.37:g.234591304G>A	ENSP00000362525:p.Ala241Thr					UGT1A8_ENST00000373450.4_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A10_ENST00000344644.5_Intron	p.A241T	NM_019077.2	NP_061950.2				Epithelial(121;8.93e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000412)|Lung(119;0.00333)|LUSC - Lung squamous cell carcinoma(224;0.00746)	1	721	+		Breast(86;0.000765)|all_lung(227;0.00267)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0457)|Lung SC(224;0.128)						B8K293|O00473	Missense_Mutation	SNP	ENST00000373426.3	37	c.721G>A	CCDS2506.1	.	.	.	.	.	.	.	.	.	.	G	12.10	1.835794	0.32421	.	.	ENSG00000244122	ENST00000373426	T	0.06371	3.31	4.16	-3.33	0.04958	.	.	.	.	.	T	0.04048	0.0113	L	0.31578	0.945	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.12837	0.008;0.008	T	0.44345	-0.9334	9	0.66056	D	0.02	.	1.7841	0.03038	0.171:0.3672:0.238:0.2239	.	241;241	Q5DSZ7;Q9HAW7	.;UD17_HUMAN	T	241	ENSP00000362525:A241T	ENSP00000362525:A241T	A	+	1	0	UGT1A7	234256043	0.000000	0.05858	0.000000	0.03702	0.151000	0.21798	-2.710000	0.00818	-0.390000	0.07774	0.485000	0.47835	GCA		0.413	UGT1A7-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000130614.1	NM_019077		5	309	0	0	0	1	0	5	309					A	234591304	G	A	234591304	3	1	139	1	0	0	0	0	1	0	0	0	16947	1203	42	3	723	3	UGT1A7	2	234591304	Missense_Mutation	SNP	G	TCGA-EJ-AB20-01A-12D-A41K-08	64456898	234591304	8608069	4	6968											
QRICH1	54870	broad.mit.edu	37	chr3	49094842	49094842	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tggccagcacggtggccaccGgctgccctgagatggcgtag	6	6	16	13	3	0	1	0	1	0	1	0	2	0	1	4	5	2	3	4	5	1	1			TCGA-EJ-AB20-01A-12D-A41K-08	TCGA-EJ-AB20-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42430570-8b50-44a2-88bc-57b1aab9fad7	aad0c72f-096f-4d7b-8cf7-46c5ab0939d5	g.chr3:49094842G>A	ENST00000395443.2	-	3	1263	c.791C>T	c.(790-792)cCg>cTg	p.P264L	QRICH1_ENST00000357496.2_Missense_Mutation_p.P264L|QRICH1_ENST00000479449.1_Intron|QRICH1_ENST00000424300.1_Missense_Mutation_p.P264L	NM_198880.1	NP_942581.1	Q2TAL8	QRIC1_HUMAN	glutamine-rich 1	264	Gln-rich.					nucleus (GO:0005634)				breast(2)|endometrium(5)|large_intestine(8)|lung(8)|ovary(1)|skin(1)	25				BRCA - Breast invasive adenocarcinoma(193;8.88e-05)|Kidney(197;0.00239)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)		GGTGGCCACCGGCTGCCCTGA	0.602																																						ENST00000395443.2																			0				breast(2)|endometrium(5)|large_intestine(8)|lung(8)|ovary(1)|skin(1)	25						c.(790-792)cCg>cTg		glutamine-rich 1							54	53	53					3																	49094842		2203	4299	6502	SO:0001583	missense	54870							g.chr3:49094842G>A		CCDS2787.1	3p21.31	2011-06-03			ENSG00000198218	ENSG00000198218			24713	protein-coding gene	gene with protein product						12477932	Standard	NM_017730		Approved	FLJ20259	uc003cvv.3	Q2TAL8	OTTHUMG00000156772	ENST00000395443.2:c.791C>T	3.37:g.49094842G>A	ENSP00000378830:p.Pro264Leu					QRICH1_ENST00000424300.1_Missense_Mutation_p.P264L|QRICH1_ENST00000479449.1_Intron|QRICH1_ENST00000357496.2_Missense_Mutation_p.P264L	p.P264L	NM_198880.1	NP_942581.1	Q2TAL8	QRIC1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.88e-05)|Kidney(197;0.00239)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)	3	1263	-			264			Gln-rich.		Q4G0F7|Q7L621|Q8TEA5	Missense_Mutation	SNP	ENST00000395443.2	37	c.791C>T	CCDS2787.1	.	.	.	.	.	.	.	.	.	.	G	15.28	2.785980	0.49997	.	.	ENSG00000198218	ENST00000395443;ENST00000357496;ENST00000424300	T;T;T	0.20738	2.05;2.05;2.05	6.07	6.07	0.98685	.	0.047167	0.85682	D	0.000000	T	0.14917	0.0360	N	0.14661	0.345	0.80722	D	1	D	0.53619	0.961	B	0.36989	0.238	T	0.02942	-1.1091	10	0.72032	D	0.01	-4.894	20.6439	0.99570	0.0:0.0:1.0:0.0	.	264	Q2TAL8	QRIC1_HUMAN	L	264	ENSP00000378830:P264L;ENSP00000350094:P264L;ENSP00000412890:P264L	ENSP00000350094:P264L	P	-	2	0	QRICH1	49069846	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	6.993000	0.76245	2.890000	0.99128	0.650000	0.86243	CCG		0.602	QRICH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345669.1	NM_017730		14	31	0	0	0	1	0	14	31					A	49094842	G	A	49094842	3	1	139	1	0	0	0	0	1	0	0	0	12879	1116	39	2	1571	2	QRICH1	3	49094842	Missense_Mutation	SNP	G	TCGA-EJ-AB20-01A-12D-A41K-08		49094842	148927588	5	6969											
SGEF	26084	broad.mit.edu	37	chr3	153840317	153840317	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gcccactgcaaatggccttgCcgctaataacgactctcctg	9	9	8	15	2	1	0	0	0	1	0	2	1	1	0	4	1	3	2	4	1	3	3			TCGA-EJ-AB20-01A-12D-A41K-08	TCGA-EJ-AB20-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42430570-8b50-44a2-88bc-57b1aab9fad7	aad0c72f-096f-4d7b-8cf7-46c5ab0939d5	g.chr3:153840317C>T	ENST00000356448.4	+	2	820	c.536C>T	c.(535-537)gCc>gTc	p.A179V	ARHGEF26-AS1_ENST00000467912.1_RNA|ARHGEF26-AS1_ENST00000480639.1_RNA|ARHGEF26_ENST00000465817.1_Missense_Mutation_p.A179V|ARHGEF26_ENST00000465093.1_Missense_Mutation_p.A179V|ARHGEF26-AS1_ENST00000491862.1_RNA|ARHGEF26-AS1_ENST00000479270.1_RNA	NM_001251962.1	NP_001238891.1	Q96DR7	ARHGQ_HUMAN	Rho guanine nucleotide exchange factor (GEF) 26	179					endothelial cell morphogenesis (GO:0001886)|ruffle assembly (GO:0097178)	cell projection (GO:0042995)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			endometrium(4)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1)	23						AATGGCCTTGCCGCTAATAAC	0.652																																					GBM(163;191 2003 24758 29593 48540)|Ovarian(152;631 1885 20165 22910 51013)	ENST00000356448.4																			0				endometrium(4)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1)	23						c.(535-537)gCc>gTc		Rho guanine nucleotide exchange factor (GEF) 26							17	19	18					3																	153840317		1893	4102	5995	SO:0001583	missense	26084				regulation of Rho protein signal transduction	intracellular|ruffle	Rho guanyl-nucleotide exchange factor activity	g.chr3:153840317C>T	BC016628	CCDS46938.1, CCDS58858.1	3q25.2	2013-01-10			ENSG00000114790	ENSG00000114790		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	24490	protein-coding gene	gene with protein product	"Src homology 3 domain-containing guanine nucleotide exchange factor"					15133129, 12697679	Standard	NM_015595		Approved	DKFZP434D146, SGEF	uc021xgc.1	Q96DR7	OTTHUMG00000159098	ENST00000356448.4:c.536C>T	3.37:g.153840317C>T	ENSP00000348828:p.Ala179Val					ARHGEF26_ENST00000465817.1_Missense_Mutation_p.A179V|ARHGEF26_ENST00000465093.1_Missense_Mutation_p.A179V	p.A179V	NM_001251962.1	NP_001238891.1	Q96DR7	ARHGQ_HUMAN			2	820	+			179					B3KVP8|E9PBD0|Q68CL1|Q6AZ96|Q6Q8Q8|Q96AW8|Q96DR6|Q9H9D7|Q9H9R2|Q9UFW5	Missense_Mutation	SNP	ENST00000356448.4	37	c.536C>T	CCDS46938.1	.	.	.	.	.	.	.	.	.	.	C	10.78	1.445720	0.25987	.	.	ENSG00000114790	ENST00000356448;ENST00000465093;ENST00000465817	T;T;T	0.57595	0.39;0.39;2.18	4.64	1.64	0.23874	.	0.876760	0.09991	N	0.729743	T	0.28134	0.0694	N	0.08118	0	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.04013	0.001;0.001	T	0.22382	-1.0218	10	0.16420	T	0.52	-4.7862	7.2571	0.26183	0.0:0.7009:0.1387:0.1605	.	179;179	E9PBD0;Q96DR7	.;ARHGQ_HUMAN	V	179	ENSP00000348828:A179V;ENSP00000423418:A179V;ENSP00000423295:A179V	ENSP00000348828:A179V	A	+	2	0	ARHGEF26	155323007	0.000000	0.05858	0.006000	0.13384	0.105000	0.19272	0.036000	0.13819	0.380000	0.24823	0.561000	0.74099	GCC		0.652	ARHGEF26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353287.3	NM_015595		3	36	0	0	0	1	0	3	36					T	153840317	C	T	153840317	3	4	139	1	0	0	0	0	1	0	0	0	14205	739	26	3	538	3	SGEF	3	153840317	Missense_Mutation	SNP	C	TCGA-EJ-AB20-01A-12D-A41K-08	104745475	153840317	44182113	6	6970											
SORBS2	8470	broad.mit.edu	37	chr4	186545479	186545479	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtgctgctccagatttctgcGttttgccgggccatttgcca	4	14	11	12	2	1	1	0	0	1	1	2	1	2	1	4	1	5	3	4	1	0	4			TCGA-EJ-AB20-01A-12D-A41K-08	TCGA-EJ-AB20-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42430570-8b50-44a2-88bc-57b1aab9fad7	aad0c72f-096f-4d7b-8cf7-46c5ab0939d5	g.chr4:186545479G>A	ENST00000284776.7	-	13	1601	c.1092C>T	c.(1090-1092)aaC>aaT	p.N364N	SORBS2_ENST00000431808.1_Silent_p.N364N|SORBS2_ENST00000319471.9_Intron|SORBS2_ENST00000498125.1_Intron|SORBS2_ENST00000393528.3_Intron|SORBS2_ENST00000449407.2_Intron|SORBS2_ENST00000448662.2_Intron|SORBS2_ENST00000437304.2_Intron|SORBS2_ENST00000418609.1_Silent_p.N268N|SORBS2_ENST00000355634.5_Silent_p.N464N	NM_021069.4	NP_066547.1	O94875	SRBS2_HUMAN	sorbin and SH3 domain containing 2	364					actin filament organization (GO:0007015)|cell adhesion (GO:0007155)|cell migration (GO:0016477)	actin cytoskeleton (GO:0015629)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|Z disc (GO:0030018)	cytoskeletal adaptor activity (GO:0008093)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)			endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1)	53		all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)		AGATTTCTGCGTTTTGCCGGG	0.517																																					Esophageal Squamous(153;41 2433 9491 36028)	ENST00000431808.1																			0				endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1)	53						c.(1090-1092)aaC>aaT		sorbin and SH3 domain containing 2							68	68	68					4																	186545479		2203	4300	6503	SO:0001819	synonymous_variant	8470					actin cytoskeleton|nucleus|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding	g.chr4:186545479G>A		CCDS3845.1, CCDS43289.2, CCDS47173.1, CCDS47174.1, CCDS47175.1, CCDS47176.1, CCDS54825.1, CCDS59482.1	4q35.1	2008-02-05			ENSG00000154556	ENSG00000154556			24098	protein-coding gene	gene with protein product	"Arg/Abl interacting protein"					9211900, 9872452	Standard	NM_021069		Approved	ARGBP2, KIAA0777	uc003iym.3	O94875	OTTHUMG00000157215	ENST00000284776.7:c.1092C>T	4.37:g.186545479G>A						SORBS2_ENST00000498125.1_Intron|SORBS2_ENST00000448662.2_Intron|SORBS2_ENST00000437304.2_Intron|SORBS2_ENST00000449407.2_Intron|SORBS2_ENST00000418609.1_Silent_p.N268N|SORBS2_ENST00000284776.7_Silent_p.N364N|SORBS2_ENST00000393528.3_Intron|SORBS2_ENST00000355634.5_Silent_p.N464N|SORBS2_ENST00000319471.9_Intron	p.N364N			O94875	SRBS2_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)	14	1655	-		all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244)	364					A6NEK9|B3KPQ7|B7Z1G5|B7Z3X6|C9JKV9|D3DP62|D3DP63|E9PAS5|E9PAW4|G3XAI0|H7BXR4|J3KNZ5|O60592|O60593|Q96EX0	Silent	SNP	ENST00000284776.7	37	c.1092C>T	CCDS3845.1																																																																																				0.517	SORBS2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000347944.3	NM_003603		32	58	0	0	0	1	0	32	58					A	186545479	G	A	186545479	2	1	139	1	0	0	0	0	0	0	0	1	14928	1136	40	1		1	SORBS2	4	186545479	Silent	SNP	G	TCGA-EJ-AB20-01A-12D-A41K-08		186545479	4608797	7	6971											
ATG10	83734	broad.mit.edu	37	chr5	81548458	81548458	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttcatgactcctgtattaaaGaattctcagaaaatcaataa	17	13	4	7	0	3	3	3	1	1	2	5	3	4	3	1	0	0	1	1	0	8	5			TCGA-EJ-AB20-01A-12D-A41K-08	TCGA-EJ-AB20-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42430570-8b50-44a2-88bc-57b1aab9fad7	aad0c72f-096f-4d7b-8cf7-46c5ab0939d5	g.chr5:81548458G>A	ENST00000282185.3	+	6	825	c.531G>A	c.(529-531)aaG>aaA	p.K177K	ATG10_ENST00000458350.3_Silent_p.K177K|ATG10_ENST00000513634.1_Silent_p.K177K|ATG10_ENST00000514253.2_Intron	NM_031482.4	NP_113670.1	Q9H0Y0	ATG10_HUMAN	autophagy related 10	177					autophagy (GO:0006914)|autophagy in response to ER overload (GO:0034263)|positive regulation of protein modification process (GO:0031401)|protein lipidation (GO:0006497)|protein modification by small protein conjugation (GO:0032446)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|intracellular (GO:0005622)	Atg12 ligase activity (GO:0019777)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(4)|prostate(2)	9		Lung NSC(167;0.0258)|all_lung(232;0.0294)|Ovarian(174;0.135)		OV - Ovarian serous cystadenocarcinoma(54;9.94e-41)|Epithelial(54;6.3e-36)|all cancers(79;2.31e-30)		CTGTATTAAAGAATTCTCAGA	0.343																																						ENST00000282185.3																			0				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(4)|prostate(2)	9						c.(529-531)aaG>aaA		autophagy related 10							71	73	72					5																	81548458		2203	4300	6503	SO:0001819	synonymous_variant	83734				autophagy in response to ER overload|positive regulation of protein modification process|protein lipidation|protein modification by small protein conjugation|protein transport	cytoplasm	Atg12 ligase activity|protein binding	g.chr5:81548458G>A	AK024016	CCDS4057.1	5q14.1	2014-02-12	2012-06-06	2005-09-11	ENSG00000152348	ENSG00000152348			20315	protein-coding gene	gene with protein product		610800	"APG10 autophagy 10-like (S. cerevisiae)", "ATG10 autophagy related 10 homolog (S. cerevisiae)"	APG10L			Standard	NM_031482		Approved	DKFZP586I0418, FLJ13954	uc003khr.3	Q9H0Y0	OTTHUMG00000119041	ENST00000282185.3:c.531G>A	5.37:g.81548458G>A						ATG10_ENST00000514253.2_Intron|ATG10_ENST00000513634.1_Silent_p.K177K|ATG10_ENST00000458350.3_Silent_p.K177K	p.K177K	NM_031482.4	NP_113670.1	Q9H0Y0	ATG10_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;9.94e-41)|Epithelial(54;6.3e-36)|all cancers(79;2.31e-30)	6	825	+		Lung NSC(167;0.0258)|all_lung(232;0.0294)|Ovarian(174;0.135)	177					B2RE09|Q6PIX1|Q9H842	Silent	SNP	ENST00000282185.3	37	c.531G>A	CCDS4057.1																																																																																				0.343	ATG10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239252.2	NM_001131028		4	55	0	0	0	1	0	4	55					A	81548458	G	A	81548458	2	1	139	1	0	0	0	0	0	0	0	1	1089	933	33	3		3	ATG10	5	81548458	Silent	SNP	G	TCGA-EJ-AB20-01A-12D-A41K-08		81548458	99366802	8	6972											
NDST1	3340	broad.mit.edu	37	chr5	149915370	149915370	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaagcaggtgtggagcatcCgcgtgaccagcacggaggag	10	4	18	9	3	0	1	0	1	0	0	1	5	1	5	2	5	3	3	2	5	1	0	rs150009231		TCGA-EJ-AB20-01A-12D-A41K-08	TCGA-EJ-AB20-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42430570-8b50-44a2-88bc-57b1aab9fad7	aad0c72f-096f-4d7b-8cf7-46c5ab0939d5	g.chr5:149915370C>T	ENST00000261797.6	+	6	1862	c.1360C>T	c.(1360-1362)Cgc>Tgc	p.R454C	NDST1_ENST00000523767.1_Missense_Mutation_p.R454C	NM_001543.4	NP_001534.1	P52848	NDST1_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 1	454	Heparan sulfate N-deacetylase 1.				carbohydrate metabolic process (GO:0005975)|embryonic neurocranium morphogenesis (GO:0048702)|embryonic viscerocranium morphogenesis (GO:0048703)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain development (GO:0030900)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparin biosynthetic process (GO:0030210)|inflammatory response (GO:0006954)|MAPK cascade (GO:0000165)|midbrain development (GO:0030901)|polysaccharide biosynthetic process (GO:0000271)|respiratory gaseous exchange (GO:0007585)|small molecule metabolic process (GO:0044281)|smoothened signaling pathway (GO:0007224)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine N-sulfotransferase activity (GO:0015016)|deacetylase activity (GO:0019213)			breast(2)|central_nervous_system(3)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	34		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GTGGAGCATCCGCGTGACCAG	0.642																																						ENST00000261797.6																			0				breast(2)|central_nervous_system(3)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	34						c.(1360-1362)Cgc>Tgc		N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 1		C	CYS/ARG	2,4404	4.2+/-10.8	0,2,2201	85	70	75		1360	4.8	1	5	dbSNP_134	75	0,8600		0,0,4300	yes	missense	NDST1	NM_001543.4	180	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	possibly-damaging	454/883	149915370	2,13004	2203	4300	6503	SO:0001583	missense	3340				heparan sulfate proteoglycan biosynthetic process|inflammatory response	Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity	g.chr5:149915370C>T	U18918	CCDS34277.1, CCDS75358.1	5q33.1	2008-02-05				ENSG00000070614		"Sulfotransferases, membrane-bound"	7680	protein-coding gene	gene with protein product		600853		HSST		7601448, 9230113	Standard	NM_001543		Approved	NST1	uc003lsk.4	P52848		ENST00000261797.6:c.1360C>T	5.37:g.149915370C>T	ENSP00000261797:p.Arg454Cys					NDST1_ENST00000523767.1_Missense_Mutation_p.R454C	p.R454C	NM_001543.4	NP_001534.1	P52848	NDST1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		6	1862	+		all_hematologic(541;0.224)	454			Heparan sulfate N-deacetylase 1.		Q96E57	Missense_Mutation	SNP	ENST00000261797.6	37	c.1360C>T	CCDS34277.1	.	.	.	.	.	.	.	.	.	.	C	24.2	4.500435	0.85176	4.54E-4	0.0	ENSG00000070614	ENST00000523767;ENST00000261797	T;T	0.46451	0.87;1.2	4.79	4.79	0.61399	.	0.235220	0.43416	D	0.000565	T	0.52869	0.1761	L	0.55481	1.735	0.53005	D	0.999964	D;D;D	0.64830	0.977;0.994;0.977	P;P;P	0.58520	0.67;0.84;0.67	T	0.55952	-0.8059	10	0.87932	D	0	.	11.626	0.51145	0.3043:0.6957:0.0:0.0	.	454;454;454	E7EVJ3;P52848-2;P52848	.;.;NDST1_HUMAN	C	454	ENSP00000428604:R454C;ENSP00000261797:R454C	ENSP00000261797:R454C	R	+	1	0	NDST1	149895563	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.375000	0.66173	2.372000	0.80975	0.655000	0.94253	CGC		0.642	NDST1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374314.2	NM_001543		8	14	0	0	0	1	0	8	14					T	149915370	C	T	149915370	3	4	139	1	0	0	0	0	1	0	0	0	10255	652	23	2	1378	2	NDST1	5	149915370	Missense_Mutation	SNP	C	TCGA-EJ-AB20-01A-12D-A41K-08	68366912	149915370	30999890	9	6973											
FYN	2534	broad.mit.edu	37	chr6	111995769	111995769	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaaaagaccacacgtcagaCttgattgtgaacctcccgta	13	8	7	13	2	1	4	1	2	0	2	2	4	2	4	4	0	1	1	4	0	4	3			TCGA-EJ-AB20-01A-12D-A41K-08	TCGA-EJ-AB20-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42430570-8b50-44a2-88bc-57b1aab9fad7	aad0c72f-096f-4d7b-8cf7-46c5ab0939d5	g.chr6:111995769C>A	ENST00000354650.3	-	13	1944	c.1338G>T	c.(1336-1338)aaG>aaT	p.K446N	FYN_ENST00000368682.3_Missense_Mutation_p.K443N|FYN_ENST00000368678.4_Missense_Mutation_p.K443N|FYN_ENST00000229470.5_Missense_Mutation_p.K394N|FYN_ENST00000368667.2_Missense_Mutation_p.K446N|FYN_ENST00000356013.2_Missense_Mutation_p.K391N|FYN_ENST00000229471.4_Missense_Mutation_p.K391N|FYN_ENST00000538466.1_Missense_Mutation_p.K443N	NM_002037.5	NP_002028.1	P06241	FYN_HUMAN	FYN proto-oncogene, Src family tyrosine kinase	446	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activated T cell proliferation (GO:0050798)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|cellular response to peptide hormone stimulus (GO:0071375)|dendrite morphogenesis (GO:0048813)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|feeding behavior (GO:0007631)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain development (GO:0030900)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|learning (GO:0007612)|leukocyte migration (GO:0050900)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of gene expression (GO:0010629)|negative regulation of protein catabolic process (GO:0042177)|neuron migration (GO:0001764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein localization to nucleus (GO:1900182)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of cell shape (GO:0008360)|regulation of defense response to virus by virus (GO:0050690)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	cytosol (GO:0005829)|endosome (GO:0005768)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	ATP binding (GO:0005524)|ephrin receptor binding (GO:0046875)|glycoprotein binding (GO:0001948)|growth factor receptor binding (GO:0070851)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(17)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	30		all_cancers(87;1.37e-05)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.00125)|Colorectal(196;0.0211)		all cancers(137;0.0451)|OV - Ovarian serous cystadenocarcinoma(136;0.0476)|Epithelial(106;0.102)	Dasatinib(DB01254)	ACACGTCAGACTTGATTGTGA	0.537																																						ENST00000354650.3																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(17)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	30						c.(1336-1338)aaG>aaT		FYN oncogene related to SRC, FGR, YES	Dasatinib(DB01254)						148	145	146					6																	111995769		2203	4300	6503	SO:0001583	missense	2534				axon guidance|calcium ion transport|feeding behavior|interspecies interaction between organisms|intracellular protein kinase cascade|learning|leukocyte migration|platelet activation|regulation of defense response to virus by virus|T cell costimulation|T cell receptor signaling pathway|viral reproduction	cytosol|endosome|plasma membrane	ATP binding|glycoprotein binding|identical protein binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity	g.chr6:111995769C>A	AK056699	CCDS5094.1, CCDS5095.1, CCDS5096.1	6q21	2014-06-25	2014-06-25		ENSG00000010810	ENSG00000010810		"SH2 domain containing"	4037	protein-coding gene	gene with protein product		137025	"FYN oncogene related to SRC, FGR, YES"			3526330	Standard	NM_002037		Approved	SYN, SLK, MGC45350	uc003pvh.3	P06241	OTTHUMG00000016305	ENST00000354650.3:c.1338G>T	6.37:g.111995769C>A	ENSP00000346671:p.Lys446Asn					FYN_ENST00000538466.1_Missense_Mutation_p.K443N|FYN_ENST00000368678.4_Missense_Mutation_p.K443N|FYN_ENST00000229470.5_Missense_Mutation_p.K394N|FYN_ENST00000368682.3_Missense_Mutation_p.K443N|FYN_ENST00000229471.4_Missense_Mutation_p.K391N|FYN_ENST00000368667.2_Missense_Mutation_p.K446N|FYN_ENST00000356013.2_Missense_Mutation_p.K391N	p.K446N	NM_002037.5	NP_002028.1	P06241	FYN_HUMAN		all cancers(137;0.0451)|OV - Ovarian serous cystadenocarcinoma(136;0.0476)|Epithelial(106;0.102)	13	1944	-		all_cancers(87;1.37e-05)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.00125)|Colorectal(196;0.0211)	446			Protein kinase.		B5BU57|E1P557|H0UI48|Q16248|Q5R3A6|Q5R3A7|Q8N5D7	Missense_Mutation	SNP	ENST00000354650.3	37	c.1338G>T	CCDS5094.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.026538	0.75390	.	.	ENSG00000010810	ENST00000368682;ENST00000354650;ENST00000229471;ENST00000368667;ENST00000368678;ENST00000229470;ENST00000356013;ENST00000538466;ENST00000544792	T;T;T;T;T;T;T;T	0.14516	2.5;2.5;2.5;2.5;2.5;2.5;2.5;2.5	5.67	2.92	0.33932	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.111388	0.56097	D	0.000033	T	0.26304	0.0642	M	0.82323	2.585	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.996;0.993;1.0	T	0.06127	-1.0844	10	0.87932	D	0	.	10.0411	0.42158	0.0:0.7285:0.0:0.2715	.	446;391;443	P06241;P06241-3;E1P556	FYN_HUMAN;.;.	N	443;446;391;446;443;394;391;443;394	ENSP00000357671:K443N;ENSP00000346671:K446N;ENSP00000229471:K391N;ENSP00000357656:K446N;ENSP00000357667:K443N;ENSP00000229470:K394N;ENSP00000348295:K391N;ENSP00000440646:K443N	ENSP00000229470:K394N	K	-	3	2	FYN	112102462	0.999000	0.42202	1.000000	0.80357	0.978000	0.69477	0.698000	0.25571	0.768000	0.33290	0.462000	0.41574	AAG		0.537	FYN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043655.1			12	107	1	0	6.40141e-05	1	7.06363e-05	12	107					A	111995769	C	A	111995769	3	1	139	1	0	0	0	0	1	0	0	0	6126	564	20	5	283	5	FYN	6	111995769	Missense_Mutation	SNP	C	TCGA-EJ-AB20-01A-12D-A41K-08		111995769	59119298	10	6974											
ELN	2006	broad.mit.edu	37	chr7	73478019	73478019	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gagttccaggtgttgggggcCttggaggtgagagttgttct	5	13	18	5	0	1	1	0	1	1	1	2	4	2	2	2	5	0	4	2	5	0	5			TCGA-EJ-AB20-01A-12D-A41K-08	TCGA-EJ-AB20-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42430570-8b50-44a2-88bc-57b1aab9fad7	aad0c72f-096f-4d7b-8cf7-46c5ab0939d5	g.chr7:73478019C>A	ENST00000252034.7	+	29	2386	c.1987C>A	c.(1987-1989)Ctt>Att	p.L663I	ELN_ENST00000458204.1_Missense_Mutation_p.L653I|ELN_ENST00000357036.5_Missense_Mutation_p.L668I|ELN_ENST00000380584.4_Missense_Mutation_p.L615I|ELN_ENST00000429192.1_Missense_Mutation_p.L649I|CTB-51J22.1_ENST00000435932.1_RNA|ELN_ENST00000414324.1_Missense_Mutation_p.L639I|ELN_ENST00000445912.1_Missense_Mutation_p.L663I|ELN_ENST00000358929.4_Missense_Mutation_p.L731I|ELN_ENST00000380553.4_Missense_Mutation_p.L527I|ELN_ENST00000320399.6_Missense_Mutation_p.L696I|ELN_ENST00000380575.4_Missense_Mutation_p.L634I|ELN_ENST00000320492.7_Missense_Mutation_p.L582I|ELN_ENST00000380562.4_Missense_Mutation_p.L669I|ELN_ENST00000380576.5_Missense_Mutation_p.L644I	NM_000501.2|NM_001278915.1	NP_000492.2|NP_001265844.1	P15502	ELN_HUMAN	elastin	0	Ala-rich.				blood circulation (GO:0008015)|blood vessel remodeling (GO:0001974)|cell proliferation (GO:0008283)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|organ morphogenesis (GO:0009887)|regulation of actin filament polymerization (GO:0030833)|respiratory gaseous exchange (GO:0007585)|skeletal muscle tissue development (GO:0007519)|stress fiber assembly (GO:0043149)	elastic fiber (GO:0071953)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix binding (GO:0050840)|extracellular matrix constituent conferring elasticity (GO:0030023)|extracellular matrix structural constituent (GO:0005201)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(4)|pancreas(2)|prostate(1)|skin(2)|stomach(1)	32		Lung NSC(55;0.159)				TGTTGGGGGCCTTGGAGGTGA	0.572			T	PAX5	B-ALL		"Supravalvular Aortic Stenosis, Cutis laxa , Williams-Beuren Syndrome"																															ENST00000252034.7				Dom	yes		7	7q11.23	2006	T	elastin	yes	"Supravalvular Aortic Stenosis, Cutis laxa , Williams-Beuren Syndrome"	L	PAX5		B-ALL		0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(4)|pancreas(2)|prostate(1)|skin(2)|stomach(1)	32						c.(1987-1989)Ctt>Att		elastin	Rofecoxib(DB00533)						189	140	156					7																	73478019		2203	4300	6503	SO:0001583	missense	2006				blood circulation|cell proliferation|organ morphogenesis|respiratory gaseous exchange	proteinaceous extracellular matrix	extracellular matrix constituent conferring elasticity|protein binding	g.chr7:73478019C>A		CCDS5562.2, CCDS43598.1, CCDS43599.1, CCDS47611.1, CCDS47612.1, CCDS64673.1, CCDS64674.1, CCDS64675.1, CCDS64676.1, CCDS64677.1, CCDS64678.1, CCDS75616.1, CCDS75617.1	7q11.1-q21.1	2008-08-01	2008-08-01		ENSG00000049540	ENSG00000049540			3327	protein-coding gene	gene with protein product	"tropoelastin", "supravalvular aortic stenosis", "Williams-Beuren syndrome"	130160				8096434	Standard	NM_001278939		Approved	WBS, WS, SVAS	uc003tzn.3	P15502	OTTHUMG00000150229	ENST00000252034.7:c.1987C>A	7.37:g.73478019C>A	ENSP00000252034:p.Leu663Ile					ELN_ENST00000320492.7_Missense_Mutation_p.L582I|ELN_ENST00000380584.4_Missense_Mutation_p.L615I|ELN_ENST00000358929.4_Missense_Mutation_p.L731I|ELN_ENST00000380575.4_Missense_Mutation_p.L634I|ELN_ENST00000380562.4_Missense_Mutation_p.L669I|ELN_ENST00000445912.1_Missense_Mutation_p.L663I|ELN_ENST00000429192.1_Missense_Mutation_p.L649I|ELN_ENST00000458204.1_Missense_Mutation_p.L653I|ELN_ENST00000357036.5_Missense_Mutation_p.L668I|ELN_ENST00000320399.6_Missense_Mutation_p.L696I|ELN_ENST00000380576.5_Missense_Mutation_p.L644I|ELN_ENST00000380553.4_Missense_Mutation_p.L527I|ELN_ENST00000414324.1_Missense_Mutation_p.L639I	p.L663I	NM_000501.2	NP_000492.2	P15502	ELN_HUMAN			29	2386	+		Lung NSC(55;0.159)	725			Ala-rich.		B3KTS6|O15336|O15337|Q14233|Q14234|Q14235|Q14238|Q6P0L4|Q6ZWJ6|Q75MU5|Q7Z316|Q7Z3F5|Q9UMF5	Missense_Mutation	SNP	ENST00000252034.7	37	c.1987C>A	CCDS5562.2	.	.	.	.	.	.	.	.	.	.	c	5.490	0.275436	0.10403	.	.	ENSG00000049540	ENST00000445912;ENST00000252034;ENST00000358929;ENST00000320492;ENST00000414324;ENST00000380562;ENST00000380575;ENST00000380584;ENST00000458204;ENST00000357036;ENST00000429192;ENST00000442462;ENST00000380553;ENST00000380576;ENST00000320399	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.35605	1.45;1.5;1.46;1.52;1.51;1.5;1.35;1.43;1.5;1.3;1.45;1.44;1.51;1.57	2.91	-4.36	0.03645	.	.	.	.	.	T	0.22781	0.0550	.	.	.	0.09310	N	1	B;B;B;B;B;B;B;B;B;B;B;B;B	0.32101	0.356;0.356;0.356;0.356;0.356;0.356;0.356;0.356;0.356;0.356;0.356;0.356;0.356	B;B;B;B;B;B;B;B;B;B;B;B;B	0.30401	0.115;0.115;0.115;0.115;0.115;0.115;0.115;0.115;0.115;0.115;0.115;0.115;0.115	T	0.14699	-1.0463	8	0.36615	T	0.2	.	10.574	0.45217	0.0:0.7282:0.0:0.2718	.	663;582;639;653;669;634;649;668;644;527;574;615;663	E7ENM0;G5E950;G3V0G6;E7EN65;P15502-1;P15502-7;P15502-12;P15502-5;P15502-13;P15502-11;B3KRT8;P15502-8;P15502-2	.;.;.;.;.;.;.;.;.;.;.;.;.	I	663;663;731;582;639;669;634;615;653;668;649;602;527;644;696	ENSP00000389857:L663I;ENSP00000252034:L663I;ENSP00000351807:L731I;ENSP00000315607:L582I;ENSP00000392575:L639I;ENSP00000369936:L669I;ENSP00000369949:L634I;ENSP00000369958:L615I;ENSP00000403162:L653I;ENSP00000349540:L668I;ENSP00000391129:L649I;ENSP00000369926:L527I;ENSP00000369950:L644I;ENSP00000313565:L696I	ENSP00000252034:L663I	L	+	1	0	ELN	73115955	0.000000	0.05858	0.001000	0.08648	0.020000	0.10135	-1.090000	0.03372	-0.964000	0.03595	-0.384000	0.06662	CTT		0.572	ELN-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000316913.1	NM_000501		4	84	1	0	0.150653	1	0.155513	4	84					A	73478019	C	A	73478019	3	1	139	1	0	0	0	0	1	0	0	0	5071	681	24	5	2116	5	ELN	7	73478019	Missense_Mutation	SNP	C	TCGA-EJ-AB20-01A-12D-A41K-08		73478019	85660644	11	6975											
JHDM1D	80853	broad.mit.edu	37	chr7	139810907	139810907	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actcttacctctattgctcgAattactttagaaagttcttt	10	18	4	9	1	3	1	0	0	3	1	4	2	3	1	1	0	3	2	1	0	6	8			TCGA-EJ-AB20-01A-12D-A41K-08	TCGA-EJ-AB20-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42430570-8b50-44a2-88bc-57b1aab9fad7	aad0c72f-096f-4d7b-8cf7-46c5ab0939d5	g.chr7:139810907A>C	ENST00000397560.2	-	11	1513	c.1416T>G	c.(1414-1416)atT>atG	p.I472M	JHDM1D_ENST00000006967.5_Missense_Mutation_p.I472M	NM_030647.1	NP_085150.1	Q6ZMT4	KDM7A_HUMAN		472					histone H3-K27 demethylation (GO:0071557)|histone H3-K36 demethylation (GO:0070544)|histone H3-K9 demethylation (GO:0033169)|histone H4-K20 demethylation (GO:0035574)|midbrain development (GO:0030901)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|nucleus (GO:0005634)	histone demethylase activity (H3-K27 specific) (GO:0071558)|histone demethylase activity (H3-K36 specific) (GO:0051864)|histone demethylase activity (H3-K9 specific) (GO:0032454)|histone demethylase activity (H4-K20 specific) (GO:0035575)|iron ion binding (GO:0005506)|methylated histone binding (GO:0035064)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|zinc ion binding (GO:0008270)			central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1)	22	Melanoma(164;0.0142)					CTATTGCTCGAATTACTTTAG	0.323																																						ENST00000397560.2																			0				central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1)	22						c.(1414-1416)atT>atG									117	110	112					7																	139810907		1822	4078	5900	SO:0001583	missense	0				midbrain development|transcription, DNA-dependent	nucleolus	histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding	g.chr7:139810907A>C																												ENST00000397560.2:c.1416T>G	7.37:g.139810907A>C	ENSP00000380692:p.Ile472Met					JHDM1D_ENST00000006967.5_Missense_Mutation_p.I472M	p.I472M	NM_030647.1	NP_085150.1	Q6ZMT4	KDM7_HUMAN			11	1513	-	Melanoma(164;0.0142)		472					A4D1S9|C9JJH9|C9JQU2|Q6MZL8|Q9C0E5	Missense_Mutation	SNP	ENST00000397560.2	37	c.1416T>G	CCDS43658.1	.	.	.	.	.	.	.	.	.	.	A	18.54	3.646605	0.67358	.	.	ENSG00000006459	ENST00000397560;ENST00000006967	T;T	0.56776	0.44;0.44	5.3	2.94	0.34122	.	0.000000	0.85682	D	0.000000	T	0.60971	0.2310	M	0.72353	2.195	0.58432	D	0.999995	D	0.61697	0.99	P	0.54629	0.757	T	0.64158	-0.6473	10	0.87932	D	0	-17.8045	9.1482	0.36946	0.8512:0.0:0.1488:0.0	.	472	Q6ZMT4	KDM7_HUMAN	M	472	ENSP00000380692:I472M;ENSP00000006967:I472M	ENSP00000006967:I472M	I	-	3	3	JHDM1D	139457376	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.393000	0.44442	0.965000	0.38133	0.533000	0.62120	ATT		0.323	JHDM1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348460.1			3	53	0	0	0	1	0	3	53					C	139810907	A	C	139810907	3	2	139	1	0	0	0	0	1	0	0	0	7948	242	9	5	1449	5	JHDM1D	7	139810907	Missense_Mutation	SNP	A	TCGA-EJ-AB20-01A-12D-A41K-08	66332888	139810907	19327756	12	6976											
MS4A13	503497	broad.mit.edu	37	chr11	60285574	60285574	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attatgattggcatctttcaCattttcatgtggtactttct	8	20	6	7	0	4	1	2	1	2	0	4	1	4	1	0	2	1	2	0	2	2	7			TCGA-EJ-AB20-01A-12D-A41K-08	TCGA-EJ-AB20-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42430570-8b50-44a2-88bc-57b1aab9fad7	aad0c72f-096f-4d7b-8cf7-46c5ab0939d5	g.chr11:60285574C>T	ENST00000527948.1	+	2	576	c.18C>T	c.(16-18)caC>caT	p.H6H	MS4A13_ENST00000378185.2_Silent_p.H6H|MS4A13_ENST00000378186.2_Silent_p.H6H|MS4A13_ENST00000437058.2_Silent_p.H6H			Q96JA4	M4A14_HUMAN	membrane-spanning 4-domains, subfamily A, member 13	0						integral component of membrane (GO:0016021)				endometrium(3)|large_intestine(1)|lung(2)|skin(2)	8						GCATCTTTCACATTTTCATGT	0.313																																						ENST00000378186.2																			0				endometrium(3)|large_intestine(1)|lung(2)|skin(2)	8						c.(16-18)caC>caT		membrane-spanning 4-domains, subfamily A, member 13							116	113	114					11																	60285574		2203	4300	6503	SO:0001819	synonymous_variant	503497					integral to membrane		g.chr11:60285574C>T	AY324188	CCDS31571.1, CCDS41653.1, CCDS60801.1	11q12.2	2005-12-05	2005-12-05		ENSG00000204979	ENSG00000204979			16674	protein-coding gene	gene with protein product							Standard	NM_001012417		Approved		uc001nps.3	Q5J8X5	OTTHUMG00000167615	ENST00000527948.1:c.18C>T	11.37:g.60285574C>T						MS4A13_ENST00000437058.2_Silent_p.H6H|MS4A13_ENST00000378185.2_Silent_p.H6H|MS4A13_ENST00000527948.1_Silent_p.H6H	p.H6H	NM_001012417.2	NP_001012417.2	Q5J8X5	M4A13_HUMAN			3	341	+			6					E9PJE3|Q2TVT5|Q3B7W3|Q86XH8|Q9NTC2	Silent	SNP	ENST00000527948.1	37	c.18C>T																																																																																					0.313	MS4A13-003	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000395411.1	NM_001012417		9	37	0	0	0	1	0	9	37					T	60285574	C	T	60285574	2	4	139	1	0	0	0	0	0	0	0	1	9857	477	17	3		3	MS4A13	11	60285574	Silent	SNP	C	TCGA-EJ-AB20-01A-12D-A41K-08		60285574	74720942	13	6977											
ANO1	55107	broad.mit.edu	37	chr11	70009403	70009403	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tttcaggtttgttggacgccCgggcgactacgtgtacattt	6	14	12	9	4	1	0	1	0	0	0	1	2	1	1	1	3	2	3	1	3	2	6			TCGA-EJ-AB20-01A-12D-A41K-08	TCGA-EJ-AB20-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42430570-8b50-44a2-88bc-57b1aab9fad7	aad0c72f-096f-4d7b-8cf7-46c5ab0939d5	g.chr11:70009403C>T	ENST00000355303.5	+	19	2212	c.1907C>T	c.(1906-1908)cCg>cTg	p.P636L	ANO1_ENST00000531349.1_Missense_Mutation_p.P345L|ANO1_ENST00000538023.1_Missense_Mutation_p.P636L|ANO1_ENST00000530676.1_Missense_Mutation_p.P490L|ANO1_ENST00000398543.2_Missense_Mutation_p.P490L|ANO1_ENST00000316296.5_Missense_Mutation_p.P578L	NM_018043.5	NP_060513.5	Q5XXA6	ANO1_HUMAN	anoctamin 1, calcium activated chloride channel	636					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|regulation of membrane potential (GO:0042391)|trachea development (GO:0060438)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|chloride channel complex (GO:0034707)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|intracellular calcium activated chloride channel activity (GO:0005229)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(12)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)	29					Crofelemer(DB04941)	GTTGGACGCCCGGGCGACTAC	0.532																																						ENST00000355303.5																			0				central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(12)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)	29						c.(1906-1908)cCg>cTg		anoctamin 1, calcium activated chloride channel							60	63	62					11																	70009403		1943	4123	6066	SO:0001583	missense	55107				multicellular organismal development	chloride channel complex|cytoplasm|plasma membrane	intracellular calcium activated chloride channel activity	g.chr11:70009403C>T	BC033036	CCDS44663.1	11q13.2	2014-04-09	2008-08-28	2008-08-28	ENSG00000131620	ENSG00000131620		"Ion channels / Chloride channels : Calcium activated : Anoctamins"	21625	protein-coding gene	gene with protein product		610108	"oral cancer overexpressed 2", "transmembrane protein 16A"	ORAOV2, TMEM16A		15067359, 18724360, 24692353	Standard	NM_018043		Approved	TAOS2, FLJ10261, DOG1	uc001opj.3	Q5XXA6	OTTHUMG00000167204	ENST00000355303.5:c.1907C>T	11.37:g.70009403C>T	ENSP00000347454:p.Pro636Leu					ANO1_ENST00000316296.5_Missense_Mutation_p.P578L|ANO1_ENST00000538023.1_Missense_Mutation_p.P636L|ANO1_ENST00000530676.1_Missense_Mutation_p.P490L|ANO1_ENST00000398543.2_Missense_Mutation_p.P490L|ANO1_ENST00000531349.1_Missense_Mutation_p.P345L	p.P636L	NM_018043.5	NP_060513.5	Q5XXA6	ANO1_HUMAN			19	2212	+			636					A8KAM3|Q8IYY8|Q8N7V3	Missense_Mutation	SNP	ENST00000355303.5	37	c.1907C>T	CCDS44663.1	.	.	.	.	.	.	.	.	.	.	C	19.13	3.768117	0.69878	.	.	ENSG00000131620	ENST00000355303;ENST00000538023;ENST00000398543;ENST00000546327;ENST00000316296;ENST00000530676;ENST00000531349	T;T;T;T;T;T	0.73681	-0.34;-0.43;-0.77;-0.35;-0.77;-0.44	5.08	5.08	0.68730	.	0.056642	0.64402	D	0.000001	D	0.90707	0.7084	H	0.95187	3.635	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.997;1.0;0.999	D	0.93376	0.6739	9	.	.	.	.	18.8833	0.92365	0.0:1.0:0.0:0.0	.	345;578;636	E9PNA7;Q5XXA6-3;Q5XXA6	.;.;ANO1_HUMAN	L	636;636;490;394;578;490;345	ENSP00000347454:P636L;ENSP00000444689:P636L;ENSP00000381551:P490L;ENSP00000319477:P578L;ENSP00000435797:P490L;ENSP00000432843:P345L	.	P	+	2	0	ANO1	69687051	1.000000	0.71417	0.952000	0.39060	0.200000	0.23975	6.972000	0.76110	2.535000	0.85469	0.655000	0.94253	CCG		0.532	ANO1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000393685.1	NM_018043		15	48	0	0	0	1	0	15	48					T	70009403	C	T	70009403	3	4	139	1	0	0	0	0	1	0	0	0	695	652	23	2	1981	2	ANO1	11	70009403	Missense_Mutation	SNP	C	TCGA-EJ-AB20-01A-12D-A41K-08	9723829	70009403	64997113	14	6978											
NUMA1	4926	broad.mit.edu	37	chr11	71727189	71727189	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttcttcttcgaagtggccccGctcagcaagcagcttggctt	6	12	10	13	2	3	0	1	0	2	0	4	1	3	0	2	2	3	5	2	2	2	5			TCGA-EJ-AB20-01A-12D-A41K-08	TCGA-EJ-AB20-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42430570-8b50-44a2-88bc-57b1aab9fad7	aad0c72f-096f-4d7b-8cf7-46c5ab0939d5	g.chr11:71727189G>A	ENST00000393695.3	-	15	1691	c.1360C>T	c.(1360-1362)Cgg>Tgg	p.R454W	RP11-849H4.4_ENST00000502284.1_RNA|NUMA1_ENST00000351960.6_Intron|NUMA1_ENST00000358965.6_Missense_Mutation_p.R454W	NM_006185.2	NP_006176.2			nuclear mitotic apparatus protein 1											central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	65						AAGTGGCCCCGCTCAGCAAGC	0.577			T	RARA	APL						OREG0021187	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000393695.3				Dom	yes		11	11q13	4926	T	nuclear mitotic apparatus protein 1			L	RARA		APL		0				central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	65						c.(1360-1362)Cgg>Tgg		nuclear mitotic apparatus protein 1							70	69	69					11																	71727189		2200	4293	6493	SO:0001583	missense	0				G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization	chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole	protein binding|structural molecule activity	g.chr11:71727189G>A	Z11584	CCDS31633.1, CCDS66156.1	11q13	2008-02-05				ENSG00000137497			8059	protein-coding gene	gene with protein product		164009				8406455	Standard	NM_006185		Approved		uc001orl.1	Q14980		ENST00000393695.3:c.1360C>T	11.37:g.71727189G>A	ENSP00000377298:p.Arg454Trp		OREG0021187	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1132	RP11-849H4.4_ENST00000502284.1_RNA|NUMA1_ENST00000358965.6_Missense_Mutation_p.R454W|NUMA1_ENST00000351960.6_Intron	p.R454W	NM_006185.2	NP_006176.2	Q14980	NUMA1_HUMAN			15	1691	-			454						Missense_Mutation	SNP	ENST00000393695.3	37	c.1360C>T	CCDS31633.1	.	.	.	.	.	.	.	.	.	.	G	10.95	1.496279	0.26861	.	.	ENSG00000137497	ENST00000358965;ENST00000393695;ENST00000359652;ENST00000542977;ENST00000537217	T;T;T;T	0.52526	2.34;2.42;1.22;0.66	5.8	4.87	0.63330	.	0.253459	0.32802	N	0.005630	T	0.57592	0.2064	L	0.59436	1.845	0.09310	N	1	D;D;D	0.76494	0.999;0.994;0.999	P;P;P	0.55667	0.781;0.721;0.781	T	0.55270	-0.8167	10	0.87932	D	0	.	12.8894	0.58064	0.0:0.0:0.5623:0.4377	.	460;454;454	Q4LE64;Q14980-2;Q14980	.;.;NUMA1_HUMAN	W	454;454;17;454;454	ENSP00000351851:R454W;ENSP00000377298:R454W;ENSP00000444880:R454W;ENSP00000442936:R454W	ENSP00000351851:R454W	R	-	1	2	NUMA1	71404837	0.756000	0.28383	0.041000	0.18516	0.004000	0.04260	1.736000	0.38187	1.408000	0.46895	0.655000	0.94253	CGG		0.577	NUMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395769.1			8	87	0	0	0	1	0	8	87					A	71727189	G	A	71727189	3	1	139	1	0	0	0	0	1	0	0	0	10750	1086	38	1	5039	1	NUMA1	11	71727189	Missense_Mutation	SNP	G	TCGA-EJ-AB20-01A-12D-A41K-08	1717786	71727189	63279327	15	6979											
GPR19	2842	broad.mit.edu	37	chr12	12814629	12814629	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcggccatctgtgcctattcTccaaatatattttatgacct	9	16	5	11	1	2	1	0	1	2	0	4	1	2	1	4	1	1	0	4	1	5	6			TCGA-EJ-AB20-01A-12D-A41K-08	TCGA-EJ-AB20-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42430570-8b50-44a2-88bc-57b1aab9fad7	aad0c72f-096f-4d7b-8cf7-46c5ab0939d5	g.chr12:12814629T>C	ENST00000540510.1	-	2	946	c.754A>G	c.(754-756)Aga>Gga	p.R252G	GPR19_ENST00000332427.2_Missense_Mutation_p.R252G			P46093	GPR4_HUMAN	G protein-coupled receptor 19	205					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	17		Prostate(47;0.0802)		BRCA - Breast invasive adenocarcinoma(232;0.048)		GTGCCTATTCTCCAAATATAT	0.403																																						ENST00000540510.1																			0				breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	17						c.(754-756)Aga>Gga		G protein-coupled receptor 19							37	41	39					12																	12814629		2203	4300	6503	SO:0001583	missense	2842					integral to plasma membrane	G-protein coupled receptor activity	g.chr12:12814629T>C		CCDS8652.1	12p12.3	2014-01-30				ENSG00000183150		"GPCR / Class A : Orphans"	4473	protein-coding gene	gene with protein product		602927					Standard	NM_006143		Approved		uc001raq.2	Q15760		ENST00000540510.1:c.754A>G	12.37:g.12814629T>C	ENSP00000441832:p.Arg252Gly					GPR19_ENST00000332427.2_Missense_Mutation_p.R252G	p.R252G			Q15760	GPR19_HUMAN		BRCA - Breast invasive adenocarcinoma(232;0.048)	2	946	-		Prostate(47;0.0802)	252					A8K3T3|B0M0K1|Q6NWM4	Missense_Mutation	SNP	ENST00000540510.1	37	c.754A>G	CCDS8652.1	.	.	.	.	.	.	.	.	.	.	T	13.13	2.144990	0.37825	.	.	ENSG00000183150	ENST00000540510;ENST00000332427	T;T	0.42900	0.96;0.96	5.62	5.62	0.85841	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.55162	0.1903	M	0.62209	1.925	0.58432	D	0.999998	D	0.64830	0.994	D	0.63793	0.918	T	0.51585	-0.8687	10	0.18710	T	0.47	-20.0544	11.5028	0.50448	0.0:0.0:0.1499:0.8501	.	252	Q15760	GPR19_HUMAN	G	252	ENSP00000441832:R252G;ENSP00000333744:R252G	ENSP00000333744:R252G	R	-	1	2	GPR19	12705896	1.000000	0.71417	0.989000	0.46669	0.884000	0.51177	4.945000	0.63568	2.136000	0.66102	0.533000	0.62120	AGA		0.403	GPR19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400662.1	NM_006143		3	44	0	0	0	1	0	3	44					C	12814629	T	C	12814629	3	2	139	1	0	0	0	0	1	0	0	0	6679	1559	54	4	497	4	GPR19	12	12814629	Missense_Mutation	SNP	T	TCGA-EJ-AB20-01A-12D-A41K-08		12814629	121037266	16	6980											
KIAA0564	23078	broad.mit.edu	37	chr13	42249395	42249395	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttctttgattgaagatcagtGacttctatataaccagatgt	12	16	7	6	0	3	5	1	3	2	2	3	5	3	5	1	0	1	0	1	0	4	7			TCGA-EJ-AB20-01A-12D-A41K-08	TCGA-EJ-AB20-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42430570-8b50-44a2-88bc-57b1aab9fad7	aad0c72f-096f-4d7b-8cf7-46c5ab0939d5	g.chr13:42249395G>C	ENST00000379310.3	-	36	4433	c.4365C>G	c.(4363-4365)gtC>gtG	p.V1455V		NM_015058.1	NP_055873.1	A3KMH1	VWA8_HUMAN	von Willebrand factor A domain containing 8	1455						extracellular region (GO:0005576)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)										GAAGATCAGTGACTTCTATAT	0.343																																						ENST00000379310.3																			0											c.(4363-4365)gtC>gtG		von Willebrand factor A domain containing 8							129	120	123					13																	42249395		1832	4095	5927	SO:0001819	synonymous_variant	23078							g.chr13:42249395G>C	AB011136	CCDS31963.1, CCDS41881.1	13q14.11	2013-11-18	2012-08-02	2012-08-02	ENSG00000102763	ENSG00000102763			29071	protein-coding gene	gene with protein product			"KIAA0564"	KIAA0564		9628581	Standard	NM_015058		Approved		uc001uyj.3	A3KMH1	OTTHUMG00000016799	ENST00000379310.3:c.4365C>G	13.37:g.42249395G>C							p.V1455V	NM_015058.1	NP_055873.1					36	4433	-								O60310|Q5JTP6|Q5VW08|Q7Z6I9|Q86YC9|Q8N3E4	Silent	SNP	ENST00000379310.3	37	c.4365C>G	CCDS41881.1																																																																																				0.343	VWA8-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354828.2	NM_015058		4	33	0	0	0	1	0	4	33					C	42249395	G	C	42249395	2	2	139	1	0	0	0	0	0	0	0	1	8185	1277	45	5		5	KIAA0564	13	42249395	Silent	SNP	G	TCGA-EJ-AB20-01A-12D-A41K-08		42249395	72920483	17	6981											
USP3	9960	broad.mit.edu	37	chr15	63824850	63824850	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tttttctttttattagtgtgCcggtccaacaaaagcccttg	8	17	7	9	1	1	0	0	0	1	0	2	0	2	0	3	1	3	0	3	1	5	7			TCGA-EJ-AB20-01A-12D-A41K-08	TCGA-EJ-AB20-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42430570-8b50-44a2-88bc-57b1aab9fad7	aad0c72f-096f-4d7b-8cf7-46c5ab0939d5	g.chr15:63824850C>T	ENST00000380324.3	+	2	225	c.96C>T	c.(94-96)tgC>tgT	p.C32C	USP3_ENST00000558285.1_Silent_p.C15C|USP3_ENST00000536001.1_Silent_p.C32C|USP3_ENST00000268049.7_Silent_p.C10C|USP3_ENST00000539772.1_Intron|USP3_ENST00000540797.1_Silent_p.C32C	NM_006537.3	NP_006528.2	Q9Y6I4	UBP3_HUMAN	ubiquitin specific peptidase 3	32					DNA repair (GO:0006281)|histone deubiquitination (GO:0016578)|mitotic cell cycle (GO:0000278)|regulation of protein stability (GO:0031647)|ubiquitin-dependent protein catabolic process (GO:0006511)	nuclear chromatin (GO:0000790)	histone binding (GO:0042393)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			endometrium(3)|large_intestine(7)|lung(4)	14				GBM - Glioblastoma multiforme(80;0.0187)		TATTAGTGTGCCGGTCCAACA	0.363																																						ENST00000268049.7																			0				endometrium(3)|large_intestine(7)|lung(4)	14						c.(28-30)tgC>tgT		ubiquitin specific peptidase 3							195	180	185					15																	63824850		2203	4300	6503	SO:0001819	synonymous_variant	9960				DNA repair|histone deubiquitination|mitotic cell cycle|regulation of protein stability|ubiquitin-dependent protein catabolic process	nuclear chromatin	histone binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding	g.chr15:63824850C>T	AF073344	CCDS32265.1, CCDS58370.1	15q22.3	2008-04-11	2005-08-08			ENSG00000140455		"Ubiquitin-specific peptidases"	12626	protein-coding gene	gene with protein product		604728	"ubiquitin specific protease 3"			12838346	Standard	NM_006537		Approved		uc002amf.4	Q9Y6I4		ENST00000380324.3:c.96C>T	15.37:g.63824850C>T						USP3_ENST00000536001.1_Silent_p.C32C|USP3_ENST00000539772.1_Intron|USP3_ENST00000380324.3_Silent_p.C32C|USP3_ENST00000540797.1_Silent_p.C32C|USP3_ENST00000558285.1_Silent_p.C15C	p.C10C			Q9Y6I4	UBP3_HUMAN		GBM - Glioblastoma multiforme(80;0.0187)	3	354	+			32					B4DVU5|F5H1A6|Q8WVD0	Silent	SNP	ENST00000380324.3	37	c.30C>T	CCDS32265.1																																																																																				0.363	USP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417773.1			4	116	0	0	0	1	0	4	116					T	63824850	C	T	63824850	2	4	139	1	0	0	0	0	0	0	0	1	17057	747	26	3		3	USP3	15	63824850	Silent	SNP	C	TCGA-EJ-AB20-01A-12D-A41K-08		63824850	38706542	18	6982											
SYNM	23336	broad.mit.edu	37	chr15	99672880	99672880	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagcggactcccctgagctaGgcaagttagcagacagcagc	11	5	12	13	1	0	2	0	1	0	1	1	3	1	3	2	2	5	5	2	2	3	2			TCGA-EJ-AB20-01A-12D-A41K-08	TCGA-EJ-AB20-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42430570-8b50-44a2-88bc-57b1aab9fad7	aad0c72f-096f-4d7b-8cf7-46c5ab0939d5	g.chr15:99672880G>C	ENST00000336292.6	+	5	4432	c.4312G>C	c.(4312-4314)Ggc>Cgc	p.G1438R	RP11-6O2.4_ENST00000566974.1_RNA|SYNM_ENST00000328642.7_Intron|SYNM_ENST00000561323.1_3'UTR|SYNM_ENST00000560674.1_Intron	NM_145728.2	NP_663780.2	O15061	SYNEM_HUMAN	synemin, intermediate filament protein	1439	Interaction with DMD and UTRN.|Interaction with TLN1 and VCL.|Tail.				intermediate filament cytoskeleton organization (GO:0045104)	adherens junction (GO:0005912)|costamere (GO:0043034)|intermediate filament (GO:0005882)|membrane (GO:0016020)|neurofilament cytoskeleton (GO:0060053)	intermediate filament binding (GO:0019215)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(6)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	29						CCCTGAGCTAGGCAAGTTAGC	0.512																																					Pancreas(125;1071 1762 21750 40003 40381)	ENST00000336292.6																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(6)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	29						c.(4312-4314)Ggc>Cgc		synemin, intermediate filament protein							186	189	188					15																	99672880		2092	4211	6303	SO:0001583	missense	23336				intermediate filament cytoskeleton organization	adherens junction|costamere|intermediate filament|neurofilament cytoskeleton	intermediate filament binding|structural constituent of cytoskeleton|structural constituent of muscle|vinculin binding	g.chr15:99672880G>C	AK026420	CCDS73786.1, CCDS73787.1	15q26.3	2014-09-17	2008-09-19	2008-09-19	ENSG00000182253	ENSG00000182253		"A-kinase anchor proteins", "Intermediate filaments type IV"	24466	protein-coding gene	gene with protein product	"synemin alpha", "synemin beta"	606087	"desmuslin"	DMN		11737198, 11454237	Standard	NM_145728		Approved	KIAA0353, SYN	uc002bup.3	O15061		ENST00000336292.6:c.4312G>C	15.37:g.99672880G>C	ENSP00000336775:p.Gly1438Arg					SYNM_ENST00000328642.7_Intron|SYNM_ENST00000560674.1_Intron|SYNM_ENST00000561323.1_3'UTR	p.G1438R	NM_145728.2	NP_663780.2	O15061	SYNEM_HUMAN			5	4432	+			1439			Interaction with DMD and UTRN.|Interaction with TLN1 and VCL.|Tail.		A7E2Y2|Q2TBJ4|Q5NJJ9|Q8TE61|Q8TE62	Missense_Mutation	SNP	ENST00000336292.6	37	c.4312G>C		.	.	.	.	.	.	.	.	.	.	G	6.723	0.502047	0.12822	.	.	ENSG00000182253	ENST00000336292	T	0.16897	2.31	5.52	3.66	0.41972	.	.	.	.	.	T	0.07369	0.0186	.	.	.	0.19945	N	0.999947	B	0.19073	0.033	B	0.20577	0.03	T	0.39820	-0.9595	8	0.05959	T	0.93	.	8.1413	0.31084	0.146:0.1305:0.7234:0.0	.	1439	O15061	SYNEM_HUMAN	R	1438	ENSP00000336775:G1438R	ENSP00000336775:G1438R	G	+	1	0	SYNM	97490403	0.029000	0.19370	0.001000	0.08648	0.016000	0.09150	1.575000	0.36493	0.698000	0.31739	0.655000	0.94253	GGC		0.512	SYNM-202	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_145728		4	157	0	0	0	1	0	4	157					C	99672880	G	C	99672880	3	2	139	1	0	0	0	0	1	0	0	0	15452	1000	35	5	4328	5	SYNM	15	99672880	Missense_Mutation	SNP	G	TCGA-EJ-AB20-01A-12D-A41K-08	35848030	99672880	2858512	19	6983											
AXIN2	8313	broad.mit.edu	37	chr17	63554356	63554356	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agatcgctttggctactcgtAaagttttggtatccttcagg	8	15	10	8	2	1	1	1	0	0	1	4	1	2	1	1	3	1	5	1	3	4	7			TCGA-EJ-AB20-01A-12D-A41K-08	TCGA-EJ-AB20-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42430570-8b50-44a2-88bc-57b1aab9fad7	aad0c72f-096f-4d7b-8cf7-46c5ab0939d5	g.chr17:63554356A>G	ENST00000375702.5	-	1	491	c.383T>C	c.(382-384)tTa>tCa	p.L128S	AXIN2_ENST00000307078.5_Missense_Mutation_p.L128S|CTD-2535L24.2_ENST00000577662.1_3'UTR			Q9Y2T1	AXIN2_HUMAN	axin 2	128	RGS. {ECO:0000255|PROSITE- ProRule:PRU00171}.				bone mineralization (GO:0030282)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to organic cyclic compound (GO:0071407)|chondrocyte differentiation involved in endochondral bone morphogenesis (GO:0003413)|dorsal/ventral axis specification (GO:0009950)|intramembranous ossification (GO:0001957)|maintenance of DNA repeat elements (GO:0043570)|mRNA stabilization (GO:0048255)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catenin import into nucleus (GO:0035414)|negative regulation of cell proliferation (GO:0008285)|negative regulation of osteoblast differentiation (GO:0045668)|odontogenesis (GO:0042476)|positive regulation of cell death (GO:0010942)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein phosphorylation (GO:0001934)|regulation of centromeric sister chromatid cohesion (GO:0070602)|regulation of chondrocyte development (GO:0061181)|regulation of mismatch repair (GO:0032423)|secondary heart field specification (GO:0003139)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|Wnt signaling pathway involved in somitogenesis (GO:0090244)	beta-catenin destruction complex (GO:0030877)|cell cortex (GO:0005938)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoplasmic microtubule (GO:0005881)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	armadillo repeat domain binding (GO:0070016)|beta-catenin binding (GO:0008013)|enzyme binding (GO:0019899)|GTPase activator activity (GO:0005096)|protein kinase binding (GO:0019901)|ubiquitin protein ligase binding (GO:0031625)			NS(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	34						GGCTACTCGTAAAGTTTTGGT	0.463									Oligodontia, Ectodermal Dysplasia and Colorectal Polyp syndrome																													ENST00000307078.5																			0				NS(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	34						c.(382-384)tTa>tCa		axin 2							294	256	269					17																	63554356		2203	4300	6503	SO:0001583	missense	8313	Oligodontia, Ectodermal Dysplasia and Colorectal Polyp syndrome	Familial Cancer Database	Oligodontia-Colorectal Cancer syndrome, Tooth Agenesis-Colorectal Cancer Syndrome	cellular protein localization|cellular response to organic cyclic compound|dorsal/ventral axis specification|intramembranous ossification|maintenance of DNA repeat elements|mRNA stabilization|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of cell proliferation|negative regulation of osteoblast differentiation|odontogenesis|positive regulation of cell death|positive regulation of epithelial to mesenchymal transition|positive regulation of protein phosphorylation|regulation of centromeric sister chromatid cohesion|regulation of mismatch repair|Wnt receptor signaling pathway involved in somitogenesis	Axin-APC-beta-catenin-GSK3B complex|cell cortex|centrosome|cytoplasmic membrane-bounded vesicle|cytoplasmic microtubule|nucleus|plasma membrane|postsynaptic density	armadillo repeat domain binding|beta-catenin binding|GTPase activator activity|protein kinase binding|signal transducer activity|ubiquitin protein ligase binding	g.chr17:63554356A>G	AF078165	CCDS11662.1	17q24.1	2014-09-17	2008-08-01		ENSG00000168646				904	protein-coding gene	gene with protein product	"conductin", "axil"	604025				10049590	Standard	NM_004655		Approved	MGC126582, DKFZp781B0869	uc002jfi.3	Q9Y2T1	OTTHUMG00000179353	ENST00000375702.5:c.383T>C	17.37:g.63554356A>G	ENSP00000364854:p.Leu128Ser					AXIN2_ENST00000375702.5_Missense_Mutation_p.L128S|CTD-2535L24.2_ENST00000577662.1_3'UTR	p.L128S	NM_004655.3	NP_004646.3	Q9Y2T1	AXIN2_HUMAN			2	696	-			128			RGS.		Q3MJ88|Q9H3M6|Q9UH84	Missense_Mutation	SNP	ENST00000375702.5	37	c.383T>C		.	.	.	.	.	.	.	.	.	.	A	5.824	0.336341	0.11013	.	.	ENSG00000168646	ENST00000307078;ENST00000544103;ENST00000375702	T;T;T	0.24538	1.85;1.85;1.85	4.44	4.44	0.53790	Regulator of G protein signalling (3);Regulator of G protein signalling superfamily (1);	0.675739	0.13265	N	0.400969	T	0.19927	0.0479	L	0.31157	0.91	0.39851	D	0.973246	B;B;B	0.25719	0.132;0.018;0.132	B;B;B	0.26517	0.07;0.061;0.07	T	0.06023	-1.0850	10	0.39692	T	0.17	-1.975	9.9866	0.41846	0.9162:0.0:0.0838:0.0	.	128;128;128	B7ZKL5;Q9Y2T1;E7ES00	.;AXIN2_HUMAN;.	S	128	ENSP00000302625:L128S;ENSP00000441151:L128S;ENSP00000364854:L128S	ENSP00000302625:L128S	L	-	2	0	AXIN2	60984818	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	1.536000	0.36072	1.629000	0.50426	0.374000	0.22700	TTA		0.463	AXIN2-004	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000445901.1	NM_004655		5	144	0	0	0	1	0	5	144					G	63554356	A	G	63554356	3	3	139	1	0	0	0	0	1	0	0	0	1237	372	13	4	2188	4	AXIN2	17	63554356	Missense_Mutation	SNP	A	TCGA-EJ-AB20-01A-12D-A41K-08		63554356	17640854	20	6984											
ZNF699	374879	broad.mit.edu	37	chr19	9407214	9407214	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctgtgagcgatgaggaacaaCtaaaacctttcccacattct	13	10	7	11	1	1	2	0	2	1	0	2	4	2	3	2	1	4	0	2	1	4	3			TCGA-EJ-AB20-01A-12D-A41K-08	TCGA-EJ-AB20-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42430570-8b50-44a2-88bc-57b1aab9fad7	aad0c72f-096f-4d7b-8cf7-46c5ab0939d5	g.chr19:9407214C>T	ENST00000591998.1	-	6	1094	c.866G>A	c.(865-867)aGt>aAt	p.S289N	CTC-325H20.4_ENST00000591336.1_RNA|ZNF699_ENST00000308650.3_Missense_Mutation_p.S289N			Q32M78	ZN699_HUMAN	zinc finger protein 699	289					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						TGAGGAACAACTAAAACCTTT	0.413																																						ENST00000591998.1																			0				central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						c.(865-867)aGt>aAt		zinc finger protein 699							123	120	121					19																	9407214		2135	4265	6400	SO:0001583	missense	374879				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:9407214C>T	BC109268	CCDS42495.1	19p13.2	2013-01-08				ENSG00000196110		"Zinc fingers, C2H2-type", "-"	24750	protein-coding gene	gene with protein product	hangover homolog (Drosophila)	609571				16940975	Standard	NM_198535		Approved	FLJ38144, hang	uc002mlc.1	Q32M78		ENST00000591998.1:c.866G>A	19.37:g.9407214C>T	ENSP00000467723:p.Ser289Asn					ZNF699_ENST00000308650.3_Missense_Mutation_p.S289N	p.S289N			Q32M78	ZN699_HUMAN			6	1094	-			289					Q8N9A1	Missense_Mutation	SNP	ENST00000591998.1	37	c.866G>A	CCDS42495.1	.	.	.	.	.	.	.	.	.	.	c	11.57	1.676773	0.29783	.	.	ENSG00000196110	ENST00000308650	T	0.07567	3.18	3.28	1.09	0.20402	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.42294	D	0.000732	T	0.07188	0.0182	L	0.50847	1.595	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.27157	-1.0082	10	0.38643	T	0.18	.	5.3455	0.16006	0.0:0.4696:0.4112:0.1192	.	289	Q32M78	ZN699_HUMAN	N	289	ENSP00000311596:S289N	ENSP00000311596:S289N	S	-	2	0	ZNF699	9268214	0.169000	0.23002	0.001000	0.08648	0.004000	0.04260	-0.364000	0.07583	0.399000	0.25367	0.550000	0.68814	AGT		0.413	ZNF699-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449010.1	NM_198535		10	62	0	0	0	1	0	10	62					T	9407214	C	T	9407214	3	4	139	1	0	0	0	0	1	0	0	0	18098	565	20	3	1066	3	ZNF699	19	9407214	Missense_Mutation	SNP	C	TCGA-EJ-AB20-01A-12D-A41K-08		9407214	49721769	21	6985											
NTSR2	23620	broad.mit.edu	37	chr2	11810004	11810006	+	In_Frame_Del	DEL	CAG	CAG	-																															agctccaccggcacgccgacCagcagcagcagcaggcccgc																										TCGA-EJ-AB27-01A-11D-A41K-08	TCGA-EJ-AB27-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62df5841-58c1-43a6-a145-848601f9209c	a5c0313c-ca6b-401e-b90c-7d321d458a31	g.chr2:11810004_11810006delCAG	ENST00000306928.5	-	1	284_286	c.250_252delCTG	c.(250-252)ctgdel	p.L84del		NM_012344.3	NP_036476	O95665	NTR2_HUMAN	neurotensin receptor 2	84					cell surface receptor signaling pathway (GO:0007166)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|regulation of membrane potential (GO:0042391)|sensory perception (GO:0007600)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled neurotensin receptor activity (GO:0016492)|G-protein coupled receptor activity (GO:0004930)			breast(1)|large_intestine(7)|lung(7)|prostate(1)|urinary_tract(1)	17	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.129)|OV - Ovarian serous cystadenocarcinoma(76;0.24)	Levocabastine(DB01106)	GCACGCCGACCAGCAGCAGCAGC	0.719																																						ENST00000306928.5																			0				breast(1)|large_intestine(7)|lung(7)|prostate(1)|urinary_tract(1)	17						c.(250-252)del		neurotensin receptor 2	Levocabastine(DB01106)			77,3647		3,71,1788						0.2	0.8			7	168,7346		5,158,3594	no	coding	NTSR2	NM_012344.3		8,229,5382	A1A1,A1R,RR		2.2358,2.0677,2.1801				245,10993				SO:0001651	inframe_deletion	23620				sensory perception	integral to plasma membrane		g.chr2:11810004_11810006delCAG	Y10148	CCDS1681.1	2p25.1	2012-08-08			ENSG00000169006	ENSG00000169006		"GPCR / Class A : Neurotensin receptors"	8040	protein-coding gene	gene with protein product		605538				8647296, 9851594	Standard	NM_012344		Approved	NTR2	uc002rbq.4	O95665	OTTHUMG00000119083	ENST00000306928.5:c.250_252delCTG	2.37:g.11810013_11810015delCAG	ENSP00000303686:p.Leu84del						p.L84del	NM_012344.3	NP_036476.1	O95665	NTR2_HUMAN		Epithelial(75;0.129)|OV - Ovarian serous cystadenocarcinoma(76;0.24)	1	284_286	-	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		84					Q53QQ5|Q57Z87|Q8IY58|Q8TBH6	In_Frame_Del	DEL	ENST00000306928.5	37	c.250_252delCTG	CCDS1681.1																																																																																				0.719	NTSR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239297.1			4	5						4	5	---	---	---	---	-	11810006	CAG	-	11810004	7	5	140	1	0	1	0	1	0	0	0	0	10711	581	21	0	996	0	NTSR2	2	11810004	In_Frame_Del	DEL	CAG	TCGA-EJ-AB27-01A-11D-A41K-08		11810004	231389369	1	6986											
PLB1	151056	broad.mit.edu	37	chr2	28752222	28752222	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gatatttcagtccttctgttCcaatgcctgtgtgccacact	7	15	7	12	0	2	0	1	0	1	0	4	1	4	0	4	0	2	1	4	0	2	4			TCGA-EJ-AB27-01A-11D-A41K-08	TCGA-EJ-AB27-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62df5841-58c1-43a6-a145-848601f9209c	a5c0313c-ca6b-401e-b90c-7d321d458a31	g.chr2:28752222C>A	ENST00000327757.5	+	7	408	c.364C>A	c.(364-366)Cca>Aca	p.P122T	PLB1_ENST00000422425.2_Missense_Mutation_p.P122T	NM_153021.4	NP_694566.4	Q6P1J6	PLB1_HUMAN	phospholipase B1	122	4 X 308-326 AA approximate repeats.				glycerophospholipid biosynthetic process (GO:0046474)|lipid catabolic process (GO:0016042)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phospholipid metabolic process (GO:0006644)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	lysophospholipase activity (GO:0004622)|phospholipase A2 activity (GO:0004623)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(31)|ovary(6)|prostate(1)|skin(7)|stomach(2)	69	Acute lymphoblastic leukemia(172;0.155)					TCCTTCTGTTCCAATGCCTGT	0.488																																						ENST00000422425.2																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(31)|ovary(6)|prostate(1)|skin(7)|stomach(2)	69						c.(364-366)Cca>Aca		phospholipase B1							216	190	199					2																	28752222		2203	4300	6503	SO:0001583	missense	151056				lipid catabolic process|retinoid metabolic process|steroid metabolic process	apical plasma membrane|integral to membrane	lysophospholipase activity|phospholipase A2 activity|retinyl-palmitate esterase activity	g.chr2:28752222C>A		CCDS33168.1, CCDS54340.1	2p23.3	2014-03-14			ENSG00000163803	ENSG00000163803	3.1.1.4, 3.1.1.5		30041	protein-coding gene	gene with protein product		610179				12150957	Standard	NM_153021		Approved	PLB, FLJ30866	uc002rmb.2	Q6P1J6	OTTHUMG00000152014	ENST00000327757.5:c.364C>A	2.37:g.28752222C>A	ENSP00000330442:p.Pro122Thr					PLB1_ENST00000327757.5_Missense_Mutation_p.P122T	p.P122T	NM_001170585.1	NP_001164056.1	Q6P1J6	PLB1_HUMAN			7	408	+	Acute lymphoblastic leukemia(172;0.155)		122			4 X 308-326 AA approximate repeats.		A8KAX2|Q53S03|Q8IUP7|Q96DP9	Missense_Mutation	SNP	ENST00000327757.5	37	c.364C>A	CCDS33168.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	6.833|6.833	0.522837|0.522837	0.13066|0.13066	.|.	.|.	ENSG00000163803|ENSG00000163803	ENST00000404858|ENST00000416713;ENST00000327757;ENST00000422425	.|T;T;T	.|0.19938	.|2.11;2.83;2.82	5.8|5.8	2.59|2.59	0.31030|0.31030	.|.	.|0.313524	.|0.26612	.|N	.|0.023416	T|T	0.07728|0.07728	0.0194|0.0194	N|N	0.03608|0.03608	-0.345|-0.345	0.09310|0.09310	N|N	0.999992|0.999992	.|B;B	.|0.18461	.|0.028;0.02	.|B;B	.|0.21360	.|0.034;0.009	T|T	0.35051|0.35051	-0.9804|-0.9804	5|10	.|0.19147	.|T	.|0.46	-4.2781|-4.2781	6.4898|6.4898	0.22109|0.22109	0.0:0.6635:0.1545:0.1821|0.0:0.6635:0.1545:0.1821	.|.	.|122;122	.|Q6P1J6-3;Q6P1J6	.|.;PLB1_HUMAN	L|T	120|66;122;122	.|ENSP00000407076:P66T;ENSP00000330442:P122T;ENSP00000416440:P122T	.|ENSP00000330442:P122T	F|P	+|+	3|1	2|0	PLB1|PLB1	28605726|28605726	0.360000|0.360000	0.24964|0.24964	0.073000|0.073000	0.20177|0.20177	0.004000|0.004000	0.04260|0.04260	0.752000|0.752000	0.26362|0.26362	0.797000|0.797000	0.33971|0.33971	-0.137000|-0.137000	0.14449|0.14449	TTC|CCA		0.488	PLB1-012	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000353348.2			5	38	1	0	0.0293803	1	0.0293803	5	38					A	28752222	C	A	28752222	3	1	140	1	0	0	0	0	1	0	0	0	12024	855	30	5	390	5	PLB1	2	28752222	Missense_Mutation	SNP	C	TCGA-EJ-AB27-01A-11D-A41K-08	16942218	28752222	214447151	2	6987											
NEB	4703	broad.mit.edu	37	chr2	152474877	152474877	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcagcgtttctggacgctgaCggtagatagtatcactaagt	10	12	11	8	3	3	2	2	1	1	1	3	3	3	3	0	2	1	4	0	2	4	5	rs550715282		TCGA-EJ-AB27-01A-11D-A41K-08	TCGA-EJ-AB27-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62df5841-58c1-43a6-a145-848601f9209c	a5c0313c-ca6b-401e-b90c-7d321d458a31	g.chr2:152474877C>T	ENST00000172853.10	-	70	10406	c.10259G>A	c.(10258-10260)cGt>cAt	p.R3420H	NEB_ENST00000427231.2_Missense_Mutation_p.R3663H|NEB_ENST00000603639.1_Missense_Mutation_p.R3663H|NEB_ENST00000409198.1_Missense_Mutation_p.R3420H|NEB_ENST00000397345.3_Missense_Mutation_p.R3663H|NEB_ENST00000604864.1_Missense_Mutation_p.R3663H			P20929	NEBU_HUMAN	nebulin	3420					muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		TGGACGCTGACGGTAGATAGT	0.443																																						ENST00000397345.3																			0				NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301						c.(10987-10989)cGt>cAt		nebulin							171	166	167					2																	152474877		1945	4141	6086	SO:0001583	missense	4703				muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle	g.chr2:152474877C>T	X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"nemaline myopathy type 2"	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.10259G>A	2.37:g.152474877C>T	ENSP00000172853:p.Arg3420His					NEB_ENST00000172853.10_Missense_Mutation_p.R3420H|NEB_ENST00000409198.1_Missense_Mutation_p.R3420H|NEB_ENST00000603639.1_Missense_Mutation_p.R3663H|NEB_ENST00000427231.2_Missense_Mutation_p.R3663H|NEB_ENST00000604864.1_Missense_Mutation_p.R3663H	p.R3663H	NM_001164508.1	NP_001157980.1	P20929	NEBU_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.219)	74	11190	-			3663					F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Missense_Mutation	SNP	ENST00000172853.10	37	c.10988G>A		.	.	.	.	.	.	.	.	.	.	C	18.59	3.656838	0.67586	.	.	ENSG00000183091	ENST00000409198;ENST00000397345;ENST00000427231;ENST00000172853	T;T;T;T	0.10763	2.88;2.91;2.84;2.88	5.68	5.68	0.88126	.	0.211738	0.40554	N	0.001066	T	0.35711	0.0941	M	0.84683	2.71	0.80722	D	1	D	0.89917	1.0	D	0.68621	0.959	T	0.09862	-1.0655	10	0.87932	D	0	.	13.3796	0.60761	0.0:0.9281:0.0:0.0719	.	3420	P20929	NEBU_HUMAN	H	3420;3663;3663;3420	ENSP00000386259:R3420H;ENSP00000380505:R3663H;ENSP00000416578:R3663H;ENSP00000172853:R3420H	ENSP00000172853:R3420H	R	-	2	0	NEB	152183123	1.000000	0.71417	1.000000	0.80357	0.079000	0.17450	5.961000	0.70356	2.835000	0.97688	0.650000	0.86243	CGT		0.443	NEB-201	KNOWN	basic	protein_coding	protein_coding		NM_004543		5	112	0	0	0	1	0	5	112					T	152474877	C	T	152474877	3	4	140	1	0	0	0	0	1	0	0	0	10302	536	19	1	15134	1	NEB	2	152474877	Missense_Mutation	SNP	C	TCGA-EJ-AB27-01A-11D-A41K-08	123722655	152474877	90724496	3	6988											
TTN	7273	broad.mit.edu	37	chr2	179568878	179568878	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atagtgtttcacgcaccttcGattctgagttctgctgaagt	8	15	9	9	2	3	2	1	2	2	0	4	3	3	2	1	0	1	4	1	0	2	5	rs369709449		TCGA-EJ-AB27-01A-11D-A41K-08	TCGA-EJ-AB27-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62df5841-58c1-43a6-a145-848601f9209c	a5c0313c-ca6b-401e-b90c-7d321d458a31	g.chr2:179568878G>A	ENST00000591111.1	-	104	29492	c.29268C>T	c.(29266-29268)atC>atT	p.I9756I	TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000589042.1_Silent_p.I10073I|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Silent_p.I8829I|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000342175.6_Intron			Q8WZ42	TITIN_HUMAN	titin	13834					adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ACGCACCTTCGATTCTGAGTT	0.468																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(30217-30219)atC>atT		titin							230	216	220					2																	179568878		1961	4151	6112	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179568878G>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.29268C>T	2.37:g.179568878G>A						TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Silent_p.I8829I|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000591111.1_Silent_p.I9756I|TTN-AS1_ENST00000431752.1_RNA	p.I10073I	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		106	30443	-			9756			Glu-rich.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	ENST00000591111.1	37	c.30219C>T																																																																																					0.468	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		4	122	0	0	0	1	0	4	122					A	179568878	G	A	179568878	2	1	140	1	0	0	0	0	0	0	0	1	16732	1048	37	2		2	TTN	2	179568878	Silent	SNP	G	TCGA-EJ-AB27-01A-11D-A41K-08	27094001	179568878	63630495	4	6989											
MITF	4286	broad.mit.edu	37	chr3	69987117	69987117	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtccaaaccagcctggcgatCatgtcatgccaccggtgccg	8	7	11	15	3	2	0	2	0	0	0	3	1	3	0	6	2	4	0	6	2	1	0			TCGA-EJ-AB27-01A-11D-A41K-08	TCGA-EJ-AB27-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62df5841-58c1-43a6-a145-848601f9209c	a5c0313c-ca6b-401e-b90c-7d321d458a31	g.chr3:69987117C>T	ENST00000448226.2	+	3	626	c.499C>T	c.(499-501)Cat>Tat	p.H167Y	MITF_ENST00000352241.4_Missense_Mutation_p.H167Y|MITF_ENST00000314589.5_Missense_Mutation_p.H151Y|MITF_ENST00000328528.6_Missense_Mutation_p.H166Y|MITF_ENST00000314557.6_Missense_Mutation_p.H60Y|MITF_ENST00000472437.1_Missense_Mutation_p.H115Y|MITF_ENST00000394348.1_3'UTR|MITF_ENST00000531774.1_Intron|MITF_ENST00000394355.2_Missense_Mutation_p.H142Y|MITF_ENST00000394351.3_Missense_Mutation_p.H60Y			O75030	MITF_HUMAN	microphthalmia-associated transcription factor	167					bone remodeling (GO:0046849)|camera-type eye development (GO:0043010)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|cell fate commitment (GO:0045165)|melanocyte differentiation (GO:0030318)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|osteoclast differentiation (GO:0030316)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|regulation of cell proliferation (GO:0042127)|regulation of osteoclast differentiation (GO:0045670)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)			NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|skin(6)|stomach(1)|urinary_tract(2)	30		Lung NSC(201;0.0384)|Prostate(884;0.0526)		BRCA - Breast invasive adenocarcinoma(55;3.07e-05)|Epithelial(33;0.000138)|LUSC - Lung squamous cell carcinoma(21;0.008)|Lung(16;0.0107)|KIRC - Kidney renal clear cell carcinoma(39;0.204)|Kidney(39;0.239)		GCCTGGCGATCATGTCATGCC	0.522			A		melanoma		"Waardenburg syndrome type 2, Tietz syndrome"																														Melanoma(29;269 969 31479 41502 42961)	ENST00000352241.4				Dom	yes		3	3p14.1	4286	A	microphthalmia-associated transcription factor	yes	"Waardenburg syndrome type 2, Tietz syndrome"	E			melanoma		0				NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|skin(6)|stomach(1)|urinary_tract(2)	30						c.(499-501)Cat>Tat		microphthalmia-associated transcription factor							96	83	87					3																	69987117		2203	4300	6503	SO:0001583	missense	4286				melanocyte differentiation|multicellular organismal development|protein complex assembly	nucleus|protein complex	DNA binding|protein binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription	g.chr3:69987117C>T		CCDS2913.1, CCDS43106.1, CCDS43107.1, CCDS46865.1, CCDS46866.1, CCDS46866.2, CCDS54607.1, CCDS74962.1	3p14.1-p12.3	2014-09-17			ENSG00000187098	ENSG00000187098		"Basic helix-loop-helix proteins"	7105	protein-coding gene	gene with protein product	"homolog of mouse microphthalmia"	156845	"Waardenburg syndrome, type 2A"	WS2A, WS2		8069297, 7874167, 7951321	Standard	NM_198159		Approved	MI, bHLHe32	uc003dnz.3	O75030	OTTHUMG00000149921	ENST00000448226.2:c.499C>T	3.37:g.69987117C>T	ENSP00000391803:p.His167Tyr					MITF_ENST00000314589.5_Missense_Mutation_p.H151Y|MITF_ENST00000314557.6_Missense_Mutation_p.H60Y|MITF_ENST00000531774.1_Intron|MITF_ENST00000448226.2_Missense_Mutation_p.H167Y|MITF_ENST00000472437.1_Missense_Mutation_p.H115Y|MITF_ENST00000394348.1_3'UTR|MITF_ENST00000394351.3_Missense_Mutation_p.H60Y|MITF_ENST00000328528.6_Missense_Mutation_p.H166Y|MITF_ENST00000394355.2_Missense_Mutation_p.H142Y	p.H167Y	NM_198159.2	NP_937802.1	O75030	MITF_HUMAN		BRCA - Breast invasive adenocarcinoma(55;3.07e-05)|Epithelial(33;0.000138)|LUSC - Lung squamous cell carcinoma(21;0.008)|Lung(16;0.0107)|KIRC - Kidney renal clear cell carcinoma(39;0.204)|Kidney(39;0.239)	3	662	+		Lung NSC(201;0.0384)|Prostate(884;0.0526)	167					B4DJL2|D3K197|E9PFN0|Q14841|Q9P2V0|Q9P2V1|Q9P2V2|Q9P2Y8	Missense_Mutation	SNP	ENST00000448226.2	37	c.499C>T		.	.	.	.	.	.	.	.	.	.	C	16.03	3.007721	0.54361	.	.	ENSG00000187098	ENST00000352241;ENST00000448226;ENST00000472437;ENST00000328528;ENST00000451708;ENST00000314589;ENST00000394355;ENST00000314557;ENST00000394351	T;T;T;T;T;T;T;T;T	0.25749	2.6;2.12;2.37;2.58;1.78;2.58;2.58;2.38;1.8	5.69	5.69	0.88448	.	0.091631	0.85682	D	0.000000	T	0.50820	0.1638	M	0.72118	2.19	0.58432	D	0.999991	D;D;D;D;D;D;D	0.65815	0.979;0.995;0.995;0.995;0.988;0.975;0.995	P;D;D;D;P;P;D	0.63488	0.579;0.915;0.915;0.915;0.759;0.877;0.915	T	0.41680	-0.9495	9	.	.	.	.	19.8068	0.96534	0.0:1.0:0.0:0.0	.	115;60;60;142;151;166;167	E9PFN0;O75030-9;O75030-10;O75030-4;O75030-8;O75030-6;O75030-2	.;.;.;.;.;.;.	Y	167;167;115;166;151;151;142;60;60	ENSP00000295600:H167Y;ENSP00000391803:H167Y;ENSP00000418845:H115Y;ENSP00000327867:H166Y;ENSP00000398639:H151Y;ENSP00000324443:H151Y;ENSP00000377884:H142Y;ENSP00000324246:H60Y;ENSP00000377880:H60Y	.	H	+	1	0	MITF	70069807	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.696000	0.84270	2.658000	0.90341	0.655000	0.94253	CAT		0.522	MITF-007	KNOWN	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000313947.1	NM_198159		6	25	0	0	0	1	0	6	25					T	69987117	C	T	69987117	3	4	140	1	0	0	0	0	1	0	0	0	9596	826	29	3	711	3	MITF	3	69987117	Missense_Mutation	SNP	C	TCGA-EJ-AB27-01A-11D-A41K-08		69987117	128035313	5	6990											
FILIP1L	11259	broad.mit.edu	37	chr3	99569630	99569630	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggtgaaactttgtggtctgcGtttgcagttccttctctagt	5	17	11	8	1	2	1	0	1	2	0	4	1	3	1	1	2	3	3	1	2	2	5			TCGA-EJ-AB27-01A-11D-A41K-08	TCGA-EJ-AB27-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62df5841-58c1-43a6-a145-848601f9209c	a5c0313c-ca6b-401e-b90c-7d321d458a31	g.chr3:99569630G>A	ENST00000354552.3	-	5	1360	c.890C>T	c.(889-891)aCg>aTg	p.T297M	FILIP1L_ENST00000471562.1_Missense_Mutation_p.T57M|FILIP1L_ENST00000383694.2_Missense_Mutation_p.T57M|CMSS1_ENST00000421999.2_Intron|FILIP1L_ENST00000487087.1_Intron|CMSS1_ENST00000496116.1_Intron|FILIP1L_ENST00000476723.1_Intron|FILIP1L_ENST00000331335.5_Missense_Mutation_p.T297M	NM_182909.2	NP_878913.2	Q4L180	FIL1L_HUMAN	filamin A interacting protein 1-like	297						cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	35						TGTGGTCTGCGTTTGCAGTTC	0.478																																						ENST00000331335.5																			0				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	35						c.(889-891)aCg>aTg		filamin A interacting protein 1-like							294	285	288					3																	99569630		1980	4154	6134	SO:0001583	missense	11259					cytoplasm|membrane|myosin complex|nucleus		g.chr3:99569630G>A		CCDS43117.1, CCDS43118.1, CCDS43119.1, CCDS63700.1, CCDS74969.1	3q12.1	2011-10-21			ENSG00000168386	ENSG00000168386			24589	protein-coding gene	gene with protein product	"downregulated in ovarian cancer 1", "GPBP-interacting protein of 130 kDa"	612993				8314147, 15935955, 21832087	Standard	NM_001282793		Approved	DOC-1, GIP130	uc003dtm.3	Q4L180	OTTHUMG00000159055	ENST00000354552.3:c.890C>T	3.37:g.99569630G>A	ENSP00000346560:p.Thr297Met					FILIP1L_ENST00000487087.1_Intron|FILIP1L_ENST00000471562.1_Missense_Mutation_p.T57M|FILIP1L_ENST00000354552.3_Missense_Mutation_p.T297M|CMSS1_ENST00000421999.2_Intron|FILIP1L_ENST00000476723.1_Intron|CMSS1_ENST00000496116.1_Intron|FILIP1L_ENST00000383694.2_Missense_Mutation_p.T57M	p.T297M	NM_001042459.1	NP_001035924.1	Q4L180	FIL1L_HUMAN			5	1360	-			297					B2CNV7|B2CNV8|Q13597|Q2YDY5|Q6KFX5|Q6KFX6|Q6KFX7|Q8IUM3|Q8N6Z0	Missense_Mutation	SNP	ENST00000354552.3	37	c.890C>T	CCDS43117.1	.	.	.	.	.	.	.	.	.	.	G	12.09	1.833531	0.32421	.	.	ENSG00000168386	ENST00000354552;ENST00000471562;ENST00000331335;ENST00000383694;ENST00000441620;ENST00000495625	T;T;T;T;T	0.23348	2.22;1.91;2.22;1.91;1.91	5.96	2.98	0.34508	.	0.251539	0.27725	N	0.018115	T	0.22936	0.0554	L	0.36672	1.1	0.09310	N	1	D;D	0.56746	0.977;0.961	P;B	0.47206	0.541;0.339	T	0.06789	-1.0807	10	0.66056	D	0.02	-4.681	8.2445	0.31680	0.0635:0.2423:0.5915:0.1027	.	297;297	Q4L180-2;Q4L180	.;FIL1L_HUMAN	M	297;57;297;57;57;57	ENSP00000346560:T297M;ENSP00000419642:T57M;ENSP00000327880:T297M;ENSP00000373192:T57M;ENSP00000419874:T57M	ENSP00000327880:T297M	T	-	2	0	FILIP1L	101052320	0.233000	0.23772	0.953000	0.39169	0.982000	0.71751	2.639000	0.46570	1.419000	0.47118	0.655000	0.94253	ACG		0.478	FILIP1L-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000353069.1	NM_014890		8	169	0	0	0	1	0	8	169					A	99569630	G	A	99569630	3	1	140	1	0	0	0	0	1	0	0	0	5895	1145	40	1	2546	1	FILIP1L	3	99569630	Missense_Mutation	SNP	G	TCGA-EJ-AB27-01A-11D-A41K-08	29582513	99569630	98452800	6	6991											
POLR2B	5431	broad.mit.edu	37	chr4	57876598	57876598	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aattctcctattggtagagaCggcaagctagcaaaaccaag	15	8	9	9	1	1	1	0	0	1	1	2	2	1	1	2	2	3	4	2	2	8	5			TCGA-EJ-AB27-01A-11D-A41K-08	TCGA-EJ-AB27-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62df5841-58c1-43a6-a145-848601f9209c	a5c0313c-ca6b-401e-b90c-7d321d458a31	g.chr4:57876598C>T	ENST00000381227.1	+	12	1889	c.1476C>T	c.(1474-1476)gaC>gaT	p.D492D	POLR2B_ENST00000314595.5_Silent_p.D492D|POLR2B_ENST00000510355.1_3'UTR|POLR2B_ENST00000431623.2_Silent_p.D417D|POLR2B_ENST00000441246.2_Silent_p.D485D			P30876	RPB2_HUMAN	polymerase (RNA) II (DNA directed) polypeptide B, 140kDa	492					7-methylguanosine mRNA capping (GO:0006370)|DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|nucleotide-excision repair (GO:0006289)|positive regulation of viral transcription (GO:0050434)|RNA splicing (GO:0008380)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032)	DNA-directed RNA polymerase II, core complex (GO:0005665)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|ribonucleoside binding (GO:0032549)			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(10)|large_intestine(9)|lung(17)|ovary(2)|prostate(4)|skin(1)	52	Glioma(25;0.08)|all_neural(26;0.181)					TTGGTAGAGACGGCAAGCTAG	0.428																																						ENST00000381227.1																			0				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(10)|large_intestine(9)|lung(17)|ovary(2)|prostate(4)|skin(1)	52						c.(1474-1476)gaC>gaT		polymerase (RNA) II (DNA directed) polypeptide B, 140kDa							126	130	129					4																	57876598		2203	4300	6503	SO:0001819	synonymous_variant	5431				mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|protein binding|ribonucleoside binding	g.chr4:57876598C>T		CCDS3511.1	4q12	2013-01-21	2002-08-29		ENSG00000047315	ENSG00000047315		"RNA polymerase subunits"	9188	protein-coding gene	gene with protein product		180661	"polymerase (RNA) II (DNA directed) polypeptide B (140kD)"			1518060, 8034326	Standard	NM_000938		Approved	RPB2	uc003hcl.1	P30876	OTTHUMG00000128771	ENST00000381227.1:c.1476C>T	4.37:g.57876598C>T						POLR2B_ENST00000431623.2_Silent_p.D417D|POLR2B_ENST00000314595.5_Silent_p.D492D|POLR2B_ENST00000441246.2_Silent_p.D485D|POLR2B_ENST00000510355.1_3'UTR	p.D492D			P30876	RPB2_HUMAN			12	1889	+	Glioma(25;0.08)|all_neural(26;0.181)		492					A8K1A8|Q8IZ61	Silent	SNP	ENST00000381227.1	37	c.1476C>T	CCDS3511.1																																																																																				0.428	POLR2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250692.1	NM_000938		4	90	0	0	0	1	0	4	90					T	57876598	C	T	57876598	2	4	140	1	0	0	0	0	0	0	0	1	12215	535	19	1		1	POLR2B	4	57876598	Silent	SNP	C	TCGA-EJ-AB27-01A-11D-A41K-08		57876598	133277678	7	6992											
UBA6	55236	broad.mit.edu	37	chr4	68500187	68500187	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tggtatgttcaatagcagctGgaaaggattttagagtacaa	14	12	11	4	0	1	1	1	0	0	1	1	3	1	3	0	3	3	5	0	3	7	6			TCGA-EJ-AB27-01A-11D-A41K-08	TCGA-EJ-AB27-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62df5841-58c1-43a6-a145-848601f9209c	a5c0313c-ca6b-401e-b90c-7d321d458a31	g.chr4:68500187G>A	ENST00000322244.5	-	21	1951	c.1892C>T	c.(1891-1893)cCa>cTa	p.P631L		NM_018227.5	NP_060697.4	A0AVT1	UBA6_HUMAN	ubiquitin-like modifier activating enzyme 6	631					protein ubiquitination (GO:0016567)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|FAT10 activating enzyme activity (GO:0019780)|ligase activity (GO:0016874)			central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(6)|liver(1)|lung(23)|skin(2)|upper_aerodigestive_tract(2)	44						AATAGCAGCTGGAAAGGATTT	0.343																																						ENST00000322244.4																			0				central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(6)|liver(1)|lung(23)|skin(2)|upper_aerodigestive_tract(2)	44						c.(1891-1893)cCa>cTa		ubiquitin-like modifier activating enzyme 6							68	76	73					4																	68500187		2202	4298	6500	SO:0001583	missense	55236				protein ubiquitination|ubiquitin-dependent protein catabolic process	cytoplasm	ATP binding|FAT10 activating enzyme activity|ligase activity|protein binding	g.chr4:68500187G>A	AK094164	CCDS3516.1	4q13.2	2008-02-05	2007-11-30	2007-11-30	ENSG00000033178	ENSG00000033178		"Ubiquitin-like modifier activating enzymes"	25581	protein-coding gene	gene with protein product	"UBA6, ubiquitin-activating enzyme E1"	611361	"ubiquitin-activating enzyme E1-like 2"	UBE1L2		17580310	Standard	NM_018227		Approved	FLJ10808	uc003hdg.4	A0AVT1	OTTHUMG00000129299	ENST00000322244.5:c.1892C>T	4.37:g.68500187G>A	ENSP00000313454:p.Pro631Leu						p.P631L	NM_018227.5	NP_060697.4	A0AVT1	UBA6_HUMAN			21	1951	-			631					A6N8M7|B2RAV3|Q4W5K0|Q6UV21|Q86T78|Q86TC7|Q8N5T3|Q8N9E4|Q9H3T7|Q9NVC9	Missense_Mutation	SNP	ENST00000322244.5	37	c.1892C>T	CCDS3516.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	23.3|23.3	4.397570|4.397570	0.83120|0.83120	.|.	.|.	ENSG00000033178|ENSG00000033178	ENST00000322244|ENST00000505673	T|.	0.78246|.	-1.16|.	5.79|5.79	4.93|4.93	0.64822|0.64822	Molybdenum cofactor biosynthesis, MoeB (1);Ubiquitin-activating enzyme (1);Ubiquitin-like 1 activating enzyme, catalytic cysteine domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|.	0.86810|.	0.6022|.	H|H	0.94542|0.94542	3.55|3.55	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.97110|.	1.0|.	D|.	0.90931|.	0.4790|.	10|.	0.72032|.	D|.	0.01|.	-18.0656|-18.0656	16.7832|16.7832	0.85567|0.85567	0.0:0.1291:0.8709:0.0|0.0:0.1291:0.8709:0.0	.|.	631|.	A0AVT1|.	UBA6_HUMAN|.	L|X	631|165	ENSP00000313454:P631L|.	ENSP00000313454:P631L|.	P|Q	-|-	2|1	0|0	UBA6|UBA6	68182782|68182782	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.887000|0.887000	0.51463|0.51463	9.476000|9.476000	0.97823|0.97823	1.431000|1.431000	0.47355|0.47355	0.591000|0.591000	0.81541|0.81541	CCA|CAG		0.343	UBA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251429.2	NM_018227		7	62	0	0	0	1	0	7	62					A	68500187	G	A	68500187	3	1	140	1	0	0	0	0	1	0	0	0	16829	1348	47	3	1318	3	UBA6	4	68500187	Missense_Mutation	SNP	G	TCGA-EJ-AB27-01A-11D-A41K-08	10623589	68500187	122654089	8	6993											
PCSK1	5122	broad.mit.edu	37	chr5	95746638	95746638	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtcacaattatctccctgaCgccccccgtttcccgaagcc	8	9	6	18	3	2	1	1	1	1	0	4	2	3	1	6	0	1	1	6	0	3	2	rs138879299		TCGA-EJ-AB27-01A-11D-A41K-08	TCGA-EJ-AB27-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62df5841-58c1-43a6-a145-848601f9209c	a5c0313c-ca6b-401e-b90c-7d321d458a31	g.chr5:95746638C>T	ENST00000311106.3	-	8	1172	c.935G>A	c.(934-936)cGt>cAt	p.R312H	CTD-2337A12.1_ENST00000502645.2_RNA|PCSK1_ENST00000513085.1_Intron|PCSK1_ENST00000508626.1_Missense_Mutation_p.R265H	NM_000439.4|NM_001177876.1	NP_000430.3|NP_001171347.1	P29120	NEC1_HUMAN	proprotein convertase subtilisin/kexin type 1	312	Peptidase S8.				cell-cell signaling (GO:0007267)|cellular protein metabolic process (GO:0044267)|metabolic process (GO:0008152)|peptide biosynthetic process (GO:0043043)|peptide hormone processing (GO:0016486)|proteolysis (GO:0006508)|regulation of insulin secretion (GO:0050796)	extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|secretory granule lumen (GO:0034774)	serine-type endopeptidase activity (GO:0004252)			NS(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	36		all_cancers(142;2.67e-06)|all_epithelial(76;6.92e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0112)|Colorectal(57;0.0341)|Breast(839;0.244)		all cancers(79;3.44e-16)	"""Insulin(DB00071)|Insulin Regular(DB00030)"	ATCTCCCTGACGCCCCCCGTT	0.532																																						ENST00000311106.3																			0				NS(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	36						c.(934-936)cGt>cAt		proprotein convertase subtilisin/kexin type 1	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	C	HIS/ARG,HIS/ARG,	1,4405	2.1+/-5.4	0,1,2202	189	173	179		935,794,	5.6	0.6	5	dbSNP_134	179	0,8600		0,0,4300	no	missense,missense,intron	PCSK1	NM_000439.4,NM_001177875.1,NM_001177876.1	29,29,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign,benign,	312/754,265/707,	95746638	1,13005	2203	4300	6503	SO:0001583	missense	5122				cell-cell signaling|cellular nitrogen compound metabolic process|energy reserve metabolic process|hormone biosynthetic process|peptide biosynthetic process|peptide hormone processing|regulation of insulin secretion	extracellular space|stored secretory granule|transport vesicle	serine-type endopeptidase activity	g.chr5:95746638C>T		CCDS4081.1, CCDS54881.1	5q15-q21	2008-07-18			ENSG00000175426	ENSG00000175426			8743	protein-coding gene	gene with protein product	"prohormone convertase 3", "prohormone convertase 1", "neuroendocrine convertase 1", "proprotein convertase 1"	162150		NEC1		1765368	Standard	NM_000439		Approved	PC1, PC3, SPC3	uc003kls.2	P29120	OTTHUMG00000122089	ENST00000311106.3:c.935G>A	5.37:g.95746638C>T	ENSP00000308024:p.Arg312His					PCSK1_ENST00000508626.1_Missense_Mutation_p.R265H|PCSK1_ENST00000513085.1_Intron|CTD-2337A12.1_ENST00000502645.2_RNA	p.R312H	NM_000439.4|NM_001177876.1	NP_000430.3|NP_001171347.1	P29120	NEC1_HUMAN		all cancers(79;3.44e-16)	8	1172	-		all_cancers(142;2.67e-06)|all_epithelial(76;6.92e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0112)|Colorectal(57;0.0341)|Breast(839;0.244)	312			Catalytic.		B7Z8T7|E9PHA1|P78478|Q92532	Missense_Mutation	SNP	ENST00000311106.3	37	c.935G>A	CCDS4081.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.020706	0.75275	2.27E-4	0.0	ENSG00000175426	ENST00000311106;ENST00000508626	D;D	0.87809	-2.3;-2.3	5.62	5.62	0.85841	Peptidase S8/S53, subtilisin/kexin/sedolisin (3);	0.000000	0.85682	D	0.000000	T	0.79941	0.4533	L	0.34521	1.04	0.80722	D	1	P	0.41546	0.754	B	0.26969	0.075	T	0.82997	-0.0179	10	0.66056	D	0.02	-12.4163	19.2542	0.93940	0.0:1.0:0.0:0.0	.	312	P29120	NEC1_HUMAN	H	312;265	ENSP00000308024:R312H;ENSP00000421600:R265H	ENSP00000308024:R312H	R	-	2	0	PCSK1	95772394	1.000000	0.71417	0.629000	0.29254	0.905000	0.53344	5.999000	0.70665	2.631000	0.89168	0.650000	0.86243	CGT		0.532	PCSK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000242851.1	NM_000439		4	143	0	0	0	1	0	4	143					T	95746638	C	T	95746638	3	4	140	1	0	0	0	0	1	0	0	0	11600	536	19	1	1354	1	PCSK1	5	95746638	Missense_Mutation	SNP	C	TCGA-EJ-AB27-01A-11D-A41K-08		95746638	85168622	9	6994											
PCDHB6	56130	broad.mit.edu	37	chr5	140531962	140531962	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcggtgctcctgttcgtggcGgtgcggctgtgcaggaggag	3	10	19	9	4	0	0	0	0	0	0	3	2	1	2	1	6	3	4	1	6	0	1	rs375622168		TCGA-EJ-AB27-01A-11D-A41K-08	TCGA-EJ-AB27-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62df5841-58c1-43a6-a145-848601f9209c	a5c0313c-ca6b-401e-b90c-7d321d458a31	g.chr5:140531962G>A	ENST00000231136.1	+	1	2124	c.2124G>A	c.(2122-2124)gcG>gcA	p.A708A	PCDHB6_ENST00000543635.1_Silent_p.A572A	NM_018939.2	NP_061762.1	Q9Y5E3	PCDB6_HUMAN	protocadherin beta 6	708					calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.A708A(1)		cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGTTCGTGGCGGTGCGGCTGT	0.682																																						ENST00000231136.1																			1	Substitution - coding silent(1)	p.A708A(1)	lung(1)	cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84						c.(2122-2124)gcG>gcA				G		2,4392		0,2,2195	78	91	87		2124	-1.4	0.6	5		87	0,8548		0,0,4274	no	coding-synonymous	PCDHB6	NM_018939.2		0,2,6469	AA,AG,GG		0.0,0.0455,0.0155		708/795	140531962	2,12940	2197	4274	6471	SO:0001819	synonymous_variant	0				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	g.chr5:140531962G>A	AF152499	CCDS4248.1	5q31	2010-01-26			ENSG00000113211	ENSG00000113211		"Cadherins / Protocadherins : Clustered"	8691	other	protocadherin		606332				10380929	Standard	NM_018939		Approved	PCDH-BETA6	uc003lir.3	Q9Y5E3	OTTHUMG00000129623	ENST00000231136.1:c.2124G>A	5.37:g.140531962G>A						PCDHB6_ENST00000543635.1_Silent_p.A572A	p.A708A	NM_018939.2	NP_061762.1	Q9Y5E3	PCDB6_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	2124	+			708					B2R8R9	Silent	SNP	ENST00000231136.1	37	c.2124G>A	CCDS4248.1																																																																																				0.682	PCDHB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251818.2	NM_018939		10	153	0	0	0	1	0	10	153					A	140531962	G	A	140531962	2	1	140	1	0	0	0	0	0	0	0	1	11546	1103	39	2		2	PCDHB6	5	140531962	Silent	SNP	G	TCGA-EJ-AB27-01A-11D-A41K-08	44785324	140531962	40383298	10	6995											
HIST1H2AA	221613	broad.mit.edu	37	chr6	25726459	25726459	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctgggcaatggtcacgccGcccaaaagcttattgagttc	9	9	10	13	2	1	1	1	1	0	0	2	1	1	1	3	2	1	3	3	2	4	3	rs367946056		TCGA-EJ-AB27-01A-11D-A41K-08	TCGA-EJ-AB27-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62df5841-58c1-43a6-a145-848601f9209c	a5c0313c-ca6b-401e-b90c-7d321d458a31	g.chr6:25726459G>A	ENST00000297012.3	-	1	331	c.297C>T	c.(295-297)ggC>ggT	p.G99G	HIST1H2BA_ENST00000274764.2_5'Flank	NM_170745.3	NP_734466.1	Q96QV6	H2A1A_HUMAN	histone cluster 1, H2aa	99						extracellular vesicular exosome (GO:0070062)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|endometrium(2)|large_intestine(2)|lung(8)	13						TGGTCACGCCGCCCAAAAGCT	0.532													G|||	1	0.000199681	0	0.0014	5008	,	,		18409	0		0	False		,,,				2504	0					ENST00000297012.3																			0				breast(1)|endometrium(2)|large_intestine(2)|lung(8)	13						c.(295-297)ggC>ggT		histone cluster 1, H2aa		G		1,4405	2.1+/-5.4	0,1,2202	298	252	268		297	-7.3	0	6		268	0,8600		0,0,4300	no	coding-synonymous	HIST1H2AA	NM_170745.3		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		99/132	25726459	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	221613				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr6:25726459G>A	AY131982	CCDS4562.1	6p22.2	2011-01-27	2006-10-11		ENSG00000164508	ENSG00000164508		"Histones / Replication-dependent"	18729	protein-coding gene	gene with protein product		613499	"H2A histone family, member R", "histone 1, H2aa"			12408966	Standard	NM_170745		Approved	bA317E16.2, H2AFR	uc003nfc.3	Q96QV6	OTTHUMG00000014407	ENST00000297012.3:c.297C>T	6.37:g.25726459G>A							p.G99G	NM_170745.3	NP_734466.1	Q96QV6	H2A1A_HUMAN			1	331	-			99						Silent	SNP	ENST00000297012.3	37	c.297C>T	CCDS4562.1																																																																																				0.532	HIST1H2AA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040065.1	NM_170745		4	131	0	0	0	1	0	4	131					A	25726459	G	A	25726459	2	1	140	1	0	0	0	0	0	0	0	1	7128	1074	38	1		1	HIST1H2AA	6	25726459	Silent	SNP	G	TCGA-EJ-AB27-01A-11D-A41K-08		25726459	145388608	11	6996											
TMEM30A	55754	broad.mit.edu	37	chr6	75994253	75994253	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	caagctggcagccgttgctgTttgaaggccgtgttatccgg	6	11	14	10	3	0	1	0	1	0	0	1	1	1	1	3	3	3	6	3	3	3	3			TCGA-EJ-AB27-01A-11D-A41K-08	TCGA-EJ-AB27-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62df5841-58c1-43a6-a145-848601f9209c	a5c0313c-ca6b-401e-b90c-7d321d458a31	g.chr6:75994253T>G	ENST00000230461.6	-	1	431	c.102A>C	c.(100-102)aaA>aaC	p.K34N	TMEM30A_ENST00000475111.2_Missense_Mutation_p.K34N|RP1-234P15.4_ENST00000607221.1_lincRNA	NM_018247.3	NP_060717.1	Q9NV96	CC50A_HUMAN	transmembrane protein 30A	34					drug transmembrane transport (GO:0006855)|phospholipid translocation (GO:0045332)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein exit from endoplasmic reticulum (GO:0070863)|protein localization to endosome (GO:0036010)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)				NS(1)|haematopoietic_and_lymphoid_tissue(8)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						GCCGTTGCTGTTTGAAGGCCG	0.582																																						ENST00000230461.6																			0				NS(1)|haematopoietic_and_lymphoid_tissue(8)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(100-102)aaA>aaC		transmembrane protein 30A							81	76	78					6																	75994253		2203	4300	6503	SO:0001583	missense	55754					integral to membrane		g.chr6:75994253T>G	AK001718	CCDS4983.1, CCDS47453.1	6q14.1	2014-01-28	2004-06-17	2004-06-18	ENSG00000112697	ENSG00000112697			16667	protein-coding gene	gene with protein product		611028	"chromosome 6 open reading frame 67"	C6orf67		15375526	Standard	NM_001143958		Approved	FLJ10856, CDC50A	uc003phw.2	Q9NV96	OTTHUMG00000015050	ENST00000230461.6:c.102A>C	6.37:g.75994253T>G	ENSP00000230461:p.Lys34Asn					TMEM30A_ENST00000475111.2_Missense_Mutation_p.K34N	p.K34N	NM_018247.3	NP_060717.1	Q9NV96	CC50A_HUMAN			1	431	-			34					A8K9V8|E1P539|Q658Z3|Q96H09|Q9NSL9	Missense_Mutation	SNP	ENST00000230461.6	37	c.102A>C	CCDS4983.1	.	.	.	.	.	.	.	.	.	.	T	22.4	4.279289	0.80692	.	.	ENSG00000112697	ENST00000230461;ENST00000545449;ENST00000475111	.	.	.	5.24	1.57	0.23409	.	0.000000	0.85682	D	0.000000	T	0.52533	0.1740	L	0.53671	1.685	0.80722	D	1	D;D	0.63880	0.97;0.993	P;D	0.63703	0.889;0.917	T	0.55179	-0.8181	9	0.62326	D	0.03	-8.7779	6.7514	0.23489	0.0:0.4601:0.0:0.5399	.	34;34	Q9NV96-2;Q9NV96	.;CC50A_HUMAN	N	34;18;34	.	ENSP00000230461:K34N	K	-	3	2	TMEM30A	76050973	0.986000	0.35501	1.000000	0.80357	0.987000	0.75469	0.132000	0.15891	0.328000	0.23435	-0.250000	0.11733	AAA		0.582	TMEM30A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041248.2	NM_018247		14	66	0	0	0	1	0	14	66					G	75994253	T	G	75994253	3	3	140	1	0	0	0	0	1	0	0	0	16150	1722	60	5	1011	5	TMEM30A	6	75994253	Missense_Mutation	SNP	T	TCGA-EJ-AB27-01A-11D-A41K-08	50267794	75994253	95120814	12	6997											
PKD1L1	168507	broad.mit.edu	37	chr7	47920349	47920349	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagacacttgcaggacgtacGtctctccactgctcagagag	10	8	10	13	2	2	2	1	0	1	2	4	4	3	3	1	1	3	3	1	1	1	2	rs566918758		TCGA-EJ-AB27-01A-11D-A41K-08	TCGA-EJ-AB27-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62df5841-58c1-43a6-a145-848601f9209c	a5c0313c-ca6b-401e-b90c-7d321d458a31	g.chr7:47920349G>A	ENST00000289672.2	-	21	3547	c.3497C>T	c.(3496-3498)aCg>aTg	p.T1166M		NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	1166	REJ. {ECO:0000255|PROSITE- ProRule:PRU00511}.				detection of mechanical stimulus (GO:0050982)|detection of nodal flow (GO:0003127)|left/right axis specification (GO:0070986)|single organismal cell-cell adhesion (GO:0016337)	calcium channel complex (GO:0034704)|cilium (GO:0005929)|membrane (GO:0016020)|nonmotile primary cilium (GO:0031513)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)		BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						CAGGACGTACGTCTCTCCACT	0.468													G|||	1	0.000199681	0	0	5008	,	,		19140	0		0	False		,,,				2504	0.001					ENST00000289672.2																		BBS9/PKD1L1(2)	0				NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						c.(3496-3498)aCg>aTg		polycystic kidney disease 1 like 1							215	165	182					7																	47920349		2203	4300	6503	SO:0001583	missense	168507				cell-cell adhesion	integral to membrane		g.chr7:47920349G>A	AB061683	CCDS34633.1	7p12.3	2008-07-18			ENSG00000158683	ENSG00000158683			18053	protein-coding gene	gene with protein product	"polycystin-1L1"	609721				11863367	Standard	NM_138295		Approved	PRO19563	uc003tny.2	Q8TDX9	OTTHUMG00000155649	ENST00000289672.2:c.3497C>T	7.37:g.47920349G>A	ENSP00000289672:p.Thr1166Met						p.T1166M	NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN			21	3547	-			1166			REJ.		Q6UWK1	Missense_Mutation	SNP	ENST00000289672.2	37	c.3497C>T	CCDS34633.1	.	.	.	.	.	.	.	.	.	.	G	12.34	1.908560	0.33721	.	.	ENSG00000158683	ENST00000289672	T	0.70516	-0.49	4.43	2.54	0.30619	Egg jelly receptor, REJ-like (1);PKD/REJ-like protein (1);	0.305707	0.23902	N	0.043434	T	0.58552	0.2130	L	0.39633	1.23	0.22591	N	0.998955	P	0.48834	0.916	B	0.43360	0.417	T	0.50800	-0.8785	10	0.39692	T	0.17	-13.9199	6.6628	0.23024	0.2212:0.0:0.7788:0.0	.	1166	Q8TDX9	PK1L1_HUMAN	M	1166	ENSP00000289672:T1166M	ENSP00000289672:T1166M	T	-	2	0	PKD1L1	47886874	0.781000	0.28676	0.520000	0.27837	0.891000	0.51852	0.961000	0.29267	0.982000	0.38575	0.650000	0.86243	ACG		0.468	PKD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340974.1	NM_138295		4	34	0	0	0	1	0	4	34					A	47920349	G	A	47920349	3	1	140	1	0	0	0	0	1	0	0	0	11964	1145	40	1	5200	1	PKD1L1	7	47920349	Missense_Mutation	SNP	G	TCGA-EJ-AB27-01A-11D-A41K-08		47920349	111218314	13	6998											
CPSF4	10898	broad.mit.edu	37	chr7	99051618	99051618	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatccgccattacaaaggtcGtcctccttgatccagttaac	11	11	6	13	2	0	1	0	1	0	0	5	1	4	1	5	1	2	1	5	1	4	3	rs186458191		TCGA-EJ-AB27-01A-11D-A41K-08	TCGA-EJ-AB27-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62df5841-58c1-43a6-a145-848601f9209c	a5c0313c-ca6b-401e-b90c-7d321d458a31	g.chr7:99051618G>A	ENST00000292476.5	+	7	610	c.600G>A	c.(598-600)tcG>tcA	p.S200S	CPSF4_ENST00000451876.1_Intron|ATP5J2_ENST00000466753.1_Intron|ATP5J2-PTCD1_ENST00000437572.1_Intron|CPSF4_ENST00000471455.1_3'UTR|PTCD1_ENST00000555673.1_Intron|CPSF4_ENST00000436336.2_Intron|ATP5J2-PTCD1_ENST00000413834.1_Intron|CPSF4_ENST00000441580.1_Intron			O95639	CPSF4_HUMAN	cleavage and polyadenylation specific factor 4, 30kDa	200					modification by virus of host mRNA processing (GO:0046778)|modulation by virus of host morphology or physiology (GO:0019048)|modulation by virus of host process (GO:0019054)|mRNA processing (GO:0006397)|viral life cycle (GO:0019058)	mRNA cleavage and polyadenylation specificity factor complex (GO:0005847)|nucleoplasm (GO:0005654)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.S200S(1)		breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(5)|lung(5)	14	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)					TACAAAGGTCGTCCTCCTTGA	0.512													G|||	1	0.000199681	0	0	5008	,	,		20816	0		0.001	False		,,,				2504	0					ENST00000292476.5																			1	Substitution - coding silent(1)	p.S200S(1)	large_intestine(1)	breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(5)|lung(5)	14						c.(598-600)tcG>tcA		cleavage and polyadenylation specific factor 4, 30kDa							230	240	237					7																	99051618		2203	4300	6503	SO:0001819	synonymous_variant	10898				modification by virus of host mRNA processing|mRNA processing|viral infectious cycle	mRNA cleavage and polyadenylation specificity factor complex	RNA binding|zinc ion binding	g.chr7:99051618G>A		CCDS5664.1, CCDS47652.1	7q22	2007-10-18	2002-08-29		ENSG00000160917	ENSG00000160917			2327	protein-coding gene	gene with protein product		603052	"cleavage and polyadenylation specific factor 4, 30kD subunit"			9651582, 9224719	Standard	NM_006693		Approved	NAR, CPSF30	uc003uqj.3	O95639	OTTHUMG00000154599	ENST00000292476.5:c.600G>A	7.37:g.99051618G>A						CPSF4_ENST00000436336.2_Intron|CPSF4_ENST00000451876.1_Intron|CPSF4_ENST00000471455.1_3'UTR|PTCD1_ENST00000555673.1_Intron|ATP5J2-PTCD1_ENST00000413834.1_Intron|CPSF4_ENST00000441580.1_Intron|ATP5J2_ENST00000466753.1_Intron	p.S200S			O95639	CPSF4_HUMAN			7	610	+	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)		200					D6W5S8|Q6FGE6|Q86TF8|Q9BTW6	Silent	SNP	ENST00000292476.5	37	c.600G>A	CCDS5664.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	8.599	0.886498	0.17540	.	.	ENSG00000160917	ENST00000440514	.	.	.	5.67	5.67	0.87782	.	.	.	.	.	T	0.57562	0.2062	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.56523	-0.7965	4	.	.	.	-7.1225	6.9773	0.24683	0.14:0.0:0.7129:0.1471	.	.	.	.	I	82	.	.	V	+	1	0	CPSF4	98889554	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.218000	0.32467	2.686000	0.91538	0.655000	0.94253	GTC		0.512	CPSF4-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000336254.1			8	213	0	0	0	1	0	8	213					A	99051618	G	A	99051618	2	1	140	1	0	0	0	0	0	0	0	1	3828	1132	40	1		1	CPSF4	7	99051618	Silent	SNP	G	TCGA-EJ-AB27-01A-11D-A41K-08	51131269	99051618	60087045	14	6999											
TSGA14	95681	broad.mit.edu	37	chr7	130038878	130038878	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggagttagcttggttcagtcGgcctgaagggagcaagaaag	11	8	16	6	1	1	2	1	1	0	1	2	4	1	4	1	4	2	4	1	4	4	3			TCGA-EJ-AB27-01A-11D-A41K-08	TCGA-EJ-AB27-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62df5841-58c1-43a6-a145-848601f9209c	a5c0313c-ca6b-401e-b90c-7d321d458a31	g.chr7:130038878G>A	ENST00000223208.5	-	11	1246	c.976C>T	c.(976-978)Cga>Tga	p.R326*	CEP41_ENST00000343969.5_Nonsense_Mutation_p.R254*|CEP41_ENST00000541543.1_Nonsense_Mutation_p.R238*	NM_001257158.1|NM_018718.2	NP_001244087.1|NP_061188.1	Q9BYV8	CEP41_HUMAN	centrosomal protein 41kDa	326					cilium assembly (GO:0042384)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|protein polyglutamylation (GO:0018095)|protein transport (GO:0015031)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytosol (GO:0005829)|membrane (GO:0016020)|primary cilium (GO:0072372)											TGGTTCAGTCGGCCTGAAGGG	0.547																																						ENST00000223208.4																			0											c.(976-978)Cga>Tga		centrosomal protein 41kDa							84	96	92					7																	130038878		2203	4300	6503	SO:0001587	stop_gained	95681				G2/M transition of mitotic cell cycle	centrosome|cytosol		g.chr7:130038878G>A	AJ278890	CCDS5821.1, CCDS59078.1, CCDS59079.1, CCDS59080.1	7q32	2014-02-20	2011-10-04	2011-10-04	ENSG00000106477	ENSG00000106477			12370	protein-coding gene	gene with protein product		610523	"testis specific, 14"	TSGA14		14654843, 22246503	Standard	NM_018718		Approved	DKFZp762H1311, FLJ22445, JBTS15	uc003vpz.4	Q9BYV8	OTTHUMG00000157823	ENST00000223208.5:c.976C>T	7.37:g.130038878G>A	ENSP00000223208:p.Arg326*					CEP41_ENST00000541543.1_Nonsense_Mutation_p.R238*|CEP41_ENST00000343969.5_Nonsense_Mutation_p.R254*	p.R326*	NM_001257158.1|NM_018718.2	NP_001244087.1|NP_061188.1	Q9BYV8	CEP41_HUMAN			11	1246	-			326					A4D1M0|B4DQ35|F5H0V6|Q7Z496|Q86TM1|Q8NFU8|Q9H6A3|Q9NPV3	Nonsense_Mutation	SNP	ENST00000223208.5	37	c.976C>T	CCDS5821.1	.	.	.	.	.	.	.	.	.	.	G	17.31	3.357803	0.61403	.	.	ENSG00000106477	ENST00000223208;ENST00000541543;ENST00000343969	.	.	.	5.63	4.75	0.60458	.	0.461395	0.22086	N	0.064823	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-5.0418	11.1237	0.48306	0.086:0.0:0.914:0.0	.	.	.	.	X	326;238;254	.	ENSP00000223208:R326X	R	-	1	2	TSGA14	129826114	1.000000	0.71417	0.996000	0.52242	0.347000	0.29111	2.821000	0.48065	1.503000	0.48686	0.655000	0.94253	CGA		0.547	CEP41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349702.2	NM_018718		5	76	0	0	0	1	0	5	76					A	130038878	G	A	130038878	4	1	140	1	0	0	0	0	0	1	0	0	16617	1124	39	2	149	2	TSGA14	7	130038878	Nonsense_Mutation	SNP	G	TCGA-EJ-AB27-01A-11D-A41K-08	30987260	130038878	29099785	15	7000											
TRPV6	55503	broad.mit.edu	37	chr7	142569697	142569697	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgggtgtggaaggcctgtgcGtagcgttggatccgctgccg	4	9	18	10	5	0	0	0	0	0	0	1	2	1	2	3	4	3	3	3	4	2	2	rs368789088		TCGA-EJ-AB27-01A-11D-A41K-08	TCGA-EJ-AB27-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62df5841-58c1-43a6-a145-848601f9209c	a5c0313c-ca6b-401e-b90c-7d321d458a31	g.chr7:142569697G>A	ENST00000359396.3	-	15	2186	c.1941C>T	c.(1939-1941)taC>taT	p.Y647Y		NM_018646.3	NP_061116	Q9H1D0	TRPV6_HUMAN	transient receptor potential cation channel, subfamily V, member 6	647					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|regulation of calcium ion-dependent exocytosis (GO:0017158)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|calmodulin binding (GO:0005516)			breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	42	Melanoma(164;0.059)					AGGCCTGTGCGTAGCGTTGGA	0.567													G|||	1	0.000199681	0	0	5008	,	,		17996	0		0	False		,,,				2504	0.001					ENST00000359396.3																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	42						c.(1939-1941)taC>taT		transient receptor potential cation channel, subfamily V, member 6		G		0,4406		0,0,2203	121	114	116		1941	-6.8	0.4	7		116	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	TRPV6	NM_018646.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		647/726	142569697	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	55503				regulation of calcium ion-dependent exocytosis	integral to plasma membrane	calcium channel activity|calmodulin binding	g.chr7:142569697G>A	AJ277909	CCDS5874.1	7q34	2013-01-10	2002-01-29	2002-02-01	ENSG00000165125	ENSG00000165125		"Voltage-gated ion channels / Transient receptor potential cation channels", "Ankyrin repeat domain containing"	14006	protein-coding gene	gene with protein product		606680	"epithelial calcium channel 2"	ECAC2		11097838, 11549322, 16382100, 16717058	Standard	NM_018646		Approved	CaT1	uc003wbx.2	Q9H1D0	OTTHUMG00000157158	ENST00000359396.3:c.1941C>T	7.37:g.142569697G>A							p.Y647Y	NM_018646.3	NP_061116.2	Q9H1D0	TRPV6_HUMAN			15	2186	-	Melanoma(164;0.059)		647					A4D2I8|Q8TDL3|Q8WXR8|Q96LC5|Q9H1D1|Q9H296	Silent	SNP	ENST00000359396.3	37	c.1941C>T	CCDS5874.1																																																																																				0.567	TRPV6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347662.1	NM_014274		4	71	0	0	0	1	0	4	71					A	142569697	G	A	142569697	2	1	140	1	0	0	0	0	0	0	0	1	16597	1140	40	1		1	TRPV6	7	142569697	Silent	SNP	G	TCGA-EJ-AB27-01A-11D-A41K-08	12530819	142569697	16568966	16	7001											
CA2	760	broad.mit.edu	37	chr8	86389399	86389399	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cctcgtggcctccttcctgaAtccttggattactggaccta	6	13	8	14	1	0	1	0	1	0	0	4	3	3	3	6	3	1	0	6	3	3	4			TCGA-EJ-AB27-01A-11D-A41K-08	TCGA-EJ-AB27-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62df5841-58c1-43a6-a145-848601f9209c	a5c0313c-ca6b-401e-b90c-7d321d458a31	g.chr8:86389399A>T	ENST00000285379.5	+	6	788	c.558A>T	c.(556-558)gaA>gaT	p.E186D		NM_000067.2	NP_000058.1	P00918	CAH2_HUMAN	carbonic anhydrase II	186					angiotensin-activated signaling pathway (GO:0038166)|bicarbonate transport (GO:0015701)|kidney development (GO:0001822)|morphogenesis of an epithelium (GO:0002009)|odontogenesis of dentin-containing tooth (GO:0042475)|one-carbon metabolic process (GO:0006730)|positive regulation of bone resorption (GO:0045780)|positive regulation of cellular pH reduction (GO:0032849)|positive regulation of dipeptide transmembrane transport (GO:2001150)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|regulation of anion transport (GO:0044070)|regulation of chloride transport (GO:2001225)|regulation of intracellular pH (GO:0051453)|response to estrogen (GO:0043627)|response to pH (GO:0009268)|response to zinc ion (GO:0010043)|secretion (GO:0046903)|small molecule metabolic process (GO:0044281)	apical part of cell (GO:0045177)|axon (GO:0030424)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|microvillus (GO:0005902)|myelin sheath (GO:0043209)|plasma membrane (GO:0005886)	carbonate dehydratase activity (GO:0004089)|zinc ion binding (GO:0008270)			central_nervous_system(2)|cervix(1)|large_intestine(2)|lung(5)|prostate(1)	11					Acetazolamide(DB00819)|Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Brinzolamide(DB01194)|Chlorothiazide(DB00880)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Diclofenamide(DB01144)|Dorzolamide(DB00869)|Ethinamate(DB01031)|Furosemide(DB00695)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methazolamide(DB00703)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Topiramate(DB00273)|Trichlormethiazide(DB01021)|Zonisamide(DB00909)	TCCTTCCTGAATCCTTGGATT	0.517																																						ENST00000285379.5																			0				central_nervous_system(2)|cervix(1)|large_intestine(2)|lung(5)|prostate(1)	11						c.(556-558)gaA>gaT		carbonic anhydrase II	Acetazolamide(DB00819)|Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Brinzolamide(DB01194)|Chlorothiazide(DB00880)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Dorzolamide(DB00869)|Ethinamate(DB01031)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Topiramate(DB00273)|Trichlormethiazide(DB01021)						280	253	262					8																	86389399		2203	4300	6503	SO:0001583	missense	760				one-carbon metabolic process	apical part of cell	carbonate dehydratase activity|zinc ion binding	g.chr8:86389399A>T	J03037	CCDS6239.1	8q21.2	2012-10-02			ENSG00000104267	ENSG00000104267	4.2.1.1	"Carbonic anhydrases"	1373	protein-coding gene	gene with protein product		611492				3107918	Standard	NM_000067		Approved	Car2, CA-II, CAII	uc003ydk.2	P00918	OTTHUMG00000164944	ENST00000285379.5:c.558A>T	8.37:g.86389399A>T	ENSP00000285379:p.Glu186Asp						p.E186D	NM_000067.2	NP_000058.1	P00918	CAH2_HUMAN			6	788	+			186					B2R7G8|Q6FI12|Q96ET9	Missense_Mutation	SNP	ENST00000285379.5	37	c.558A>T	CCDS6239.1	.	.	.	.	.	.	.	.	.	.	A	13.24	2.177221	0.38413	.	.	ENSG00000104267	ENST00000285379	D	0.83914	-1.78	5.54	-5.94	0.02247	Carbonic anhydrase, alpha-class, catalytic domain (4);	1.187640	0.05514	N	0.560855	T	0.60753	0.2293	N	0.16166	0.38	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.49082	-0.8976	10	0.12430	T	0.62	-9.4	3.2829	0.06921	0.2618:0.396:0.2438:0.0985	.	186	P00918	CAH2_HUMAN	D	186	ENSP00000285379:E186D	ENSP00000285379:E186D	E	+	3	2	CA2	86576651	0.000000	0.05858	0.000000	0.03702	0.035000	0.12851	-1.238000	0.02919	-0.279000	0.09167	0.454000	0.30748	GAA		0.517	CA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381097.2	NM_000067		6	127	0	0	0	1	0	6	127					T	86389399	A	T	86389399	3	4	140	1	0	0	0	0	1	0	0	0	2516	98	4	5	580	5	CA2	8	86389399	Missense_Mutation	SNP	A	TCGA-EJ-AB27-01A-11D-A41K-08		86389399	59974623	17	7002											
COL5A1	1289	broad.mit.edu	37	chr9	137688229	137688229	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tccctctcaagggcaactccGgaggtgacggcccagctggc	7	6	13	15	2	1	1	1	1	1	0	4	2	3	2	3	5	2	2	3	5	2	0			TCGA-EJ-AB27-01A-11D-A41K-08	TCGA-EJ-AB27-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62df5841-58c1-43a6-a145-848601f9209c	a5c0313c-ca6b-401e-b90c-7d321d458a31	g.chr9:137688229G>A	ENST00000371817.3	+	35	3223	c.2809G>A	c.(2809-2811)Gga>Aga	p.G937R		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	937	Triple-helical region.				axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular fibril organization (GO:0043206)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|eye morphogenesis (GO:0048592)|heart morphogenesis (GO:0003007)|integrin biosynthetic process (GO:0045112)|negative regulation of endodermal cell differentiation (GO:1903225)|regulation of cellular component organization (GO:0051128)|skin development (GO:0043588)|tendon development (GO:0035989)|wound healing, spreading of epidermal cells (GO:0035313)	basement membrane (GO:0005604)|collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|proteoglycan binding (GO:0043394)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		GGGCAACTCCGGAGGTGACGG	0.567																																						ENST00000371817.3																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115						c.(2809-2811)Gga>Aga		collagen, type V, alpha 1							84	88	87					9																	137688229		2203	4300	6503	SO:0001583	missense	1289				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding	g.chr9:137688229G>A	D90279	CCDS6982.1, CCDS75932.1	9q34.2-q34.3	2014-09-17			ENSG00000130635	ENSG00000130635		"Collagens"	2209	protein-coding gene	gene with protein product	"alpha 1 type V collagen"	120215				1572660	Standard	NM_001278074		Approved		uc031tfl.1	P20908	OTTHUMG00000020891	ENST00000371817.3:c.2809G>A	9.37:g.137688229G>A	ENSP00000360882:p.Gly937Arg						p.G937R	NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)	35	3223	+		Myeloproliferative disorder(178;0.0341)	937			Triple-helical region.		Q15094|Q5SUX4	Missense_Mutation	SNP	ENST00000371817.3	37	c.2809G>A	CCDS6982.1	.	.	.	.	.	.	.	.	.	.	G	16.48	3.135780	0.56828	.	.	ENSG00000130635	ENST00000371817	T	0.56103	0.48	4.51	4.51	0.55191	.	0.000000	0.85682	U	0.000000	D	0.82967	0.5152	H	0.97918	4.105	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.90327	0.4349	10	0.87932	D	0	.	17.1987	0.86900	0.0:0.0:1.0:0.0	.	937	P20908	CO5A1_HUMAN	R	937	ENSP00000360882:G937R	ENSP00000360882:G937R	G	+	1	0	COL5A1	136828050	1.000000	0.71417	0.948000	0.38648	0.088000	0.18126	8.503000	0.90509	2.048000	0.60808	0.297000	0.19635	GGA		0.567	COL5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054954.2	NM_000093		4	74	0	0	0	1	0	4	74					A	137688229	G	A	137688229	3	1	140	1	0	0	0	0	1	0	0	0	3696	1117	39	2	2947	2	COL5A1	9	137688229	Missense_Mutation	SNP	G	TCGA-EJ-AB27-01A-11D-A41K-08		137688229	3525202	18	7003											
CUBN	8029	broad.mit.edu	37	chr10	16870875	16870875	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagtgtgagatagttctggaCacagtctcctggatcgtcaa	10	11	12	8	1	3	1	1	1	2	1	5	5	3	3	1	2	0	1	1	2	2	2			TCGA-EJ-AB27-01A-11D-A41K-08	TCGA-EJ-AB27-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62df5841-58c1-43a6-a145-848601f9209c	a5c0313c-ca6b-401e-b90c-7d321d458a31	g.chr10:16870875C>T	ENST00000377833.4	-	66	10758	c.10693G>A	c.(10693-10695)Gtc>Atc	p.V3565I		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	3565	CUB 27. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cholesterol metabolic process (GO:0008203)|cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|tissue homeostasis (GO:0001894)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|cobalamin binding (GO:0031419)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)|transporter activity (GO:0005215)			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TAGTTCTGGACACAGTCTCCT	0.498											OREG0020047	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000377833.4																			0				breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241						c.(10693-10695)Gtc>Atc		cubilin (intrinsic factor-cobalamin receptor)	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)						166	143	151					10																	16870875		2203	4300	6503	SO:0001583	missense	8029				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity	g.chr10:16870875C>T	AF034611	CCDS7113.1	10p12	2014-09-17			ENSG00000107611	ENSG00000107611			2548	protein-coding gene	gene with protein product		602997		MGA1		9572993, 9478979	Standard	NM_001081		Approved	IFCR, gp280	uc001ioo.3	O60494	OTTHUMG00000017741	ENST00000377833.4:c.10693G>A	10.37:g.16870875C>T	ENSP00000367064:p.Val3565Ile		OREG0020047	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	713		p.V3565I	NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN			66	10758	-			3565			CUB 27.		B0YIZ4|Q5VTA6|Q96RU9	Missense_Mutation	SNP	ENST00000377833.4	37	c.10693G>A	CCDS7113.1	.	.	.	.	.	.	.	.	.	.	C	6.488	0.458208	0.12342	.	.	ENSG00000107611	ENST00000377833;ENST00000545090	T	0.28255	1.62	5.94	0.284	0.15701	CUB (5);	1.005790	0.08011	N	0.990393	T	0.16811	0.0404	N	0.16130	0.375	0.09310	N	1	B	0.15473	0.013	B	0.17433	0.018	T	0.29671	-1.0004	10	0.36615	T	0.2	.	5.2467	0.15500	0.0:0.4291:0.1479:0.423	.	3565	O60494	CUBN_HUMAN	I	3565;406	ENSP00000367064:V3565I	ENSP00000367064:V3565I	V	-	1	0	CUBN	16910881	0.311000	0.24536	0.011000	0.14972	0.005000	0.04900	1.117000	0.31234	0.126000	0.18424	-0.291000	0.09656	GTC		0.498	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047009.1	NM_001081		4	49	0	0	0	1	0	4	49					T	16870875	C	T	16870875	3	4	140	1	0	0	0	0	1	0	0	0	4051	478	17	3	186	3	CUBN	10	16870875	Missense_Mutation	SNP	C	TCGA-EJ-AB27-01A-11D-A41K-08		16870875	118663872	19	7004											
NRP1	8829	broad.mit.edu	37	chr10	33474632	33474632	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccaccaaggtttccttttccGatttcgccctcgaaaatcac	9	12	5	15	3	1	0	1	0	0	0	5	2	3	0	5	1	0	1	5	1	3	4	rs138261778	byFrequency	TCGA-EJ-AB27-01A-11D-A41K-08	TCGA-EJ-AB27-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62df5841-58c1-43a6-a145-848601f9209c	a5c0313c-ca6b-401e-b90c-7d321d458a31	g.chr10:33474632G>A	ENST00000265371.4	-	16	2880	c.2355C>T	c.(2353-2355)atC>atT	p.I785I	NRP1_ENST00000395995.1_Silent_p.I785I|NRP1_ENST00000374875.1_Silent_p.I597I|NRP1_ENST00000374867.2_Silent_p.I785I			O14786	NRP1_HUMAN	neuropilin 1	785	MAM. {ECO:0000255|PROSITE- ProRule:PRU00128}.				angiogenesis (GO:0001525)|angiogenesis involved in coronary vascular morphogenesis (GO:0060978)|artery morphogenesis (GO:0048844)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|axonogenesis involved in innervation (GO:0060385)|branchiomotor neuron axon guidance (GO:0021785)|cell adhesion (GO:0007155)|cell migration involved in sprouting angiogenesis (GO:0002042)|cell-cell signaling (GO:0007267)|cellular response to hepatocyte growth factor stimulus (GO:0035729)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|commissural neuron axon guidance (GO:0071679)|coronary artery morphogenesis (GO:0060982)|dendrite development (GO:0016358)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|endothelial cell chemotaxis (GO:0035767)|endothelial tip cell fate specification (GO:0097102)|facial nerve structural organization (GO:0021612)|gonadotrophin-releasing hormone neuronal migration to the hypothalamus (GO:0021828)|hepatocyte growth factor receptor signaling pathway (GO:0048012)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of neuron apoptotic process (GO:0043524)|nerve development (GO:0021675)|neural crest cell migration involved in autonomic nervous system development (GO:1901166)|neuron migration (GO:0001764)|organ morphogenesis (GO:0009887)|patterning of blood vessels (GO:0001569)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive chemotaxis (GO:0050918)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of cytokine activity (GO:0060301)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of retinal ganglion cell axon guidance (GO:1902336)|positive regulation of smooth muscle cell migration (GO:0014911)|protein localization to early endosome (GO:1902946)|regulation of retinal ganglion cell axon guidance (GO:0090259)|regulation of vesicle-mediated transport (GO:0060627)|renal artery morphogenesis (GO:0061441)|response to wounding (GO:0009611)|retina vasculature morphogenesis in camera-type eye (GO:0061299)|retinal ganglion cell axon guidance (GO:0031290)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|semaphorin-plexin signaling pathway involved in neuron projection guidance (GO:1902285)|signal transduction (GO:0007165)|sprouting angiogenesis (GO:0002040)|sympathetic ganglion development (GO:0061549)|sympathetic neuron projection extension (GO:0097490)|sympathetic neuron projection guidance (GO:0097491)|trigeminal nerve structural organization (GO:0021637)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|VEGF-activated neuropilin signaling pathway (GO:0038190)|VEGF-activated neuropilin signaling pathway involved in axon guidance (GO:1902378)	axon (GO:0030424)|cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|early endosome (GO:0005769)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|neurofilament (GO:0005883)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|semaphorin receptor complex (GO:0002116)|sorting endosome (GO:0097443)	coreceptor activity (GO:0015026)|cytokine binding (GO:0019955)|growth factor binding (GO:0019838)|heparin binding (GO:0008201)|metal ion binding (GO:0046872)|semaphorin receptor activity (GO:0017154)|vascular endothelial growth factor binding (GO:0038085)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(2)|breast(6)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	48					Palifermin(DB00039)|Pegaptanib(DB04895)	TTCCTTTTCCGATTTCGCCCT	0.388																																					Melanoma(104;886 1489 44640 45944 51153)	ENST00000265371.4																			0				NS(2)|breast(6)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	48						c.(2353-2355)atC>atT		neuropilin 1	Palifermin(DB00039)|Pegaptanib(DB04895)	G		0,4406		0,0,2203	114	101	105		2355	0.1	1	10	dbSNP_134	105	1,8599	1.2+/-3.3	0,1,4299	yes	coding-synonymous	NRP1	NM_003873.5		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		785/924	33474632	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	8829				axon guidance|cell adhesion|cell-cell signaling|organ morphogenesis|positive regulation of cell proliferation	extracellular region|integral to membrane|plasma membrane	growth factor binding|heparin binding|metal ion binding|vascular endothelial growth factor receptor activity	g.chr10:33474632G>A	AF016050	CCDS7177.1, CCDS31179.1, CCDS31180.1	10p12	2006-02-23			ENSG00000099250	ENSG00000099250		"CD molecules"	8004	protein-coding gene	gene with protein product		602069				9529250, 9331348	Standard	NM_003873		Approved	NRP, VEGF165R, CD304	uc001iwx.4	O14786	OTTHUMG00000019343	ENST00000265371.4:c.2355C>T	10.37:g.33474632G>A						NRP1_ENST00000374867.2_Silent_p.I785I|NRP1_ENST00000395995.1_Silent_p.I785I	p.I785I			O14786	NRP1_HUMAN			16	2880	-			785			MAM.		B0LPG9|O60461|Q5T7F1|Q5T7F2|Q5T7F3|Q86T59|Q96I90|Q96IH5	Silent	SNP	ENST00000265371.4	37	c.2355C>T	CCDS7177.1																																																																																				0.388	NRP1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051203.2			3	45	0	0	0	1	0	3	45					A	33474632	G	A	33474632	2	1	140	1	0	0	0	0	0	0	0	1	10660	1048	37	2		2	NRP1	10	33474632	Silent	SNP	G	TCGA-EJ-AB27-01A-11D-A41K-08	16603757	33474632	102060115	20	7005											
HSPA12A	259217	broad.mit.edu	37	chr10	118464682	118464682	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcatcacatggatgcattcCggctccttggtgaagctgta	8	12	10	11	1	2	1	2	1	0	0	4	2	4	2	2	3	2	4	2	3	2	3	rs199810572		TCGA-EJ-AB27-01A-11D-A41K-08	TCGA-EJ-AB27-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62df5841-58c1-43a6-a145-848601f9209c	a5c0313c-ca6b-401e-b90c-7d321d458a31	g.chr10:118464682C>T	ENST00000369209.3	-	3	338	c.234G>A	c.(232-234)ccG>ccA	p.P78P		NM_025015.2	NP_079291.2	O43301	HS12A_HUMAN	heat shock 70kDa protein 12A	78						extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	32				all cancers(201;0.0158)		GGATGCATTCCGGCTCCTTGG	0.582																																						ENST00000369209.3																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	32						c.(232-234)ccG>ccA		heat shock 70kDa protein 12A		C		1,4305		0,1,2152	104	113	110		234	-1.4	1	10		110	0,8530		0,0,4265	no	coding-synonymous	HSPA12A	NM_025015.2		0,1,6417	TT,TC,CC		0.0,0.0232,0.0078		78/676	118464682	1,12835	2153	4265	6418	SO:0001819	synonymous_variant	259217						ATP binding	g.chr10:118464682C>T	AB007877	CCDS41569.1	10q25.3	2011-09-02	2002-08-29		ENSG00000165868	ENSG00000165868		"Heat shock proteins / HSP70"	19022	protein-coding gene	gene with protein product		610701	"heat shock 70kD protein 12A"			12552099	Standard	NM_025015		Approved	FLJ13874, KIAA0417	uc001lct.3	O43301	OTTHUMG00000019107	ENST00000369209.3:c.234G>A	10.37:g.118464682C>T							p.P78P	NM_025015.2	NP_079291.2	O43301	HS12A_HUMAN		all cancers(201;0.0158)	3	338	-			78						Silent	SNP	ENST00000369209.3	37	c.234G>A	CCDS41569.1																																																																																				0.582	HSPA12A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050530.1	NM_025015		3	32	0	0	0	1	0	3	32					T	118464682	C	T	118464682	2	4	140	1	0	0	0	0	0	0	0	1	7404	639	23	2		2	HSPA12A	10	118464682	Silent	SNP	C	TCGA-EJ-AB27-01A-11D-A41K-08	84990050	118464682	17070065	21	7006											
ABCC8	6833	broad.mit.edu	37	chr11	17415834	17415834	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggccatgtcaatggaagcCgtggcctcgtccatgatgaa	9	9	13	10	2	1	2	1	2	0	0	3	3	2	3	4	3	1	0	4	3	3	0	rs553746345		TCGA-EJ-AB27-01A-11D-A41K-08	TCGA-EJ-AB27-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62df5841-58c1-43a6-a145-848601f9209c	a5c0313c-ca6b-401e-b90c-7d321d458a31	g.chr11:17415834C>T	ENST00000389817.3	-	37	4592	c.4524G>A	c.(4522-4524)acG>acA	p.T1508T	ABCC8_ENST00000302539.4_Silent_p.T1509T			Q09428	ABCC8_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 8	1508	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				carbohydrate metabolic process (GO:0005975)|energy reserve metabolic process (GO:0006112)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|ion channel binding (GO:0044325)|potassium ion transmembrane transporter activity (GO:0015079)|sulfonylurea receptor activity (GO:0008281)			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Chlorpropamide(DB00672)|Gliclazide(DB01120)|Glimepiride(DB00222)|Glipizide(DB01067)|Gliquidone(DB01251)|Glyburide(DB01016)|Glycodiazine(DB01382)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)|Tolbutamide(DB01124)	CAATGGAAGCCGTGGCCTCGT	0.577													C|||	1	0.000199681	0	0.0014	5008	,	,		17914	0		0	False		,,,				2504	0					ENST00000302539.4																			0				NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						c.(4525-4527)acG>acA		ATP-binding cassette, sub-family C (CFTR/MRP), member 8	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)						72	71	71					11																	17415834		2200	4293	6493	SO:0001819	synonymous_variant	6833				carbohydrate metabolic process|energy reserve metabolic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity	g.chr11:17415834C>T	L78207	CCDS31437.1, CCDS73264.1	11p15.1	2014-09-17			ENSG00000006071	ENSG00000006071		"ATP binding cassette transporters / subfamily C"	59	protein-coding gene	gene with protein product	"sulfonylurea receptor (hyperinsulinemia)"	600509		SUR, HRINS		7920639, 7716548	Standard	NM_000352		Approved	HI, PHHI, SUR1, MRP8, ABC36, HHF1, TNDM2	uc001mnc.3	Q09428	OTTHUMG00000166316	ENST00000389817.3:c.4524G>A	11.37:g.17415834C>T						ABCC8_ENST00000389817.3_Silent_p.T1508T	p.T1509T	NM_000352.3	NP_000343.2	Q09428	ABCC8_HUMAN		READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	37	4652	-			1508			ABC transporter 2.		A6NMX8|E3UYX6|O75948|Q16583	Silent	SNP	ENST00000389817.3	37	c.4527G>A	CCDS31437.1																																																																																				0.577	ABCC8-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000389093.1	NM_000352		4	63	0	0	0	1	0	4	63					T	17415834	C	T	17415834	2	4	140	1	0	0	0	0	0	0	0	1	58	639	23	2		2	ABCC8	11	17415834	Silent	SNP	C	TCGA-EJ-AB27-01A-11D-A41K-08		17415834	117590682	22	7007											
KAT5	10524	broad.mit.edu	37	chr11	65482370	65482370	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttctttgagattgatggaCgtaagaacaaggttagtgct	11	13	11	6	1	1	3	0	2	1	2	1	5	1	4	1	2	2	3	1	2	4	5			TCGA-EJ-AB27-01A-11D-A41K-08	TCGA-EJ-AB27-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62df5841-58c1-43a6-a145-848601f9209c	a5c0313c-ca6b-401e-b90c-7d321d458a31	g.chr11:65482370C>T	ENST00000377046.3	+	9	1191	c.919C>T	c.(919-921)Cgt>Tgt	p.R307C	KAT5_ENST00000530446.1_Missense_Mutation_p.R288C|KAT5_ENST00000534650.1_Missense_Mutation_p.R96C|KAT5_ENST00000341318.4_Missense_Mutation_p.R340C|KAT5_ENST00000352980.4_Missense_Mutation_p.R255C	NM_006388.3	NP_006379.2	Q92993	KAT5_HUMAN	K(lysine) acetyltransferase 5	307	MYST-type HAT.				androgen receptor signaling pathway (GO:0030521)|cellular response to estradiol stimulus (GO:0071392)|chromatin organization (GO:0006325)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|double-strand break repair (GO:0006302)|histone acetylation (GO:0016573)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|regulation of growth (GO:0040008)|response to ionizing radiation (GO:0010212)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytosol (GO:0005829)|NuA4 histone acetyltransferase complex (GO:0035267)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Piccolo NuA4 histone acetyltransferase complex (GO:0032777)|Swr1 complex (GO:0000812)|transcription factor complex (GO:0005667)	androgen receptor binding (GO:0050681)|histone acetyltransferase activity (GO:0004402)|metal ion binding (GO:0046872)|repressing transcription factor binding (GO:0070491)|transcription coactivator activity (GO:0003713)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)	21						GATTGATGGACGTAAGAACAA	0.507																																						ENST00000341318.4																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)	21						c.(1018-1020)Cgt>Tgt		K(lysine) acetyltransferase 5							111	89	96					11																	65482370		2201	4297	6498	SO:0001583	missense	10524				androgen receptor signaling pathway|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|double-strand break repair|interspecies interaction between organisms|negative regulation of interleukin-2 production|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|regulation of growth|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nucleolus|perinuclear region of cytoplasm|Piccolo NuA4 histone acetyltransferase complex	androgen receptor binding|histone acetyltransferase activity|metal ion binding|repressing transcription factor binding|transcription coactivator activity	g.chr11:65482370C>T	U74667	CCDS8109.1, CCDS8110.1, CCDS31610.1, CCDS55771.1	11q13	2013-01-10	2008-07-04	2008-07-04	ENSG00000172977	ENSG00000172977		"Chromatin-modifying enzymes / K-acetyltransferases", "Zinc fingers, C2HC-type containing"	5275	protein-coding gene	gene with protein product	"Tat interacting protein, 60kDa", "K-acetyltransferase 5"	601409	"HIV-1 Tat interactive protein, 60kDa"	HTATIP		8607265	Standard	NM_006388		Approved	TIP60, PLIP, cPLA2, HTATIP1, ESA1, ZC2HC5	uc001ofk.3	Q92993	OTTHUMG00000166617	ENST00000377046.3:c.919C>T	11.37:g.65482370C>T	ENSP00000366245:p.Arg307Cys					KAT5_ENST00000534650.1_Missense_Mutation_p.R96C|KAT5_ENST00000377046.3_Missense_Mutation_p.R307C|KAT5_ENST00000352980.4_Missense_Mutation_p.R255C|KAT5_ENST00000530446.1_Missense_Mutation_p.R288C	p.R340C	NM_182710.2	NP_874369.1	Q92993	KAT5_HUMAN			8	1252	+			307					B4E3C7|C9JL99|O95624|Q13430|Q17RW5|Q561W3|Q6GSE8|Q9BWK7	Missense_Mutation	SNP	ENST00000377046.3	37	c.1018C>T	CCDS31610.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.076045	0.76415	.	.	ENSG00000172977	ENST00000377046;ENST00000352980;ENST00000341318;ENST00000530446;ENST00000534650	T;T;T;T	0.50001	0.78;0.78;0.76;0.77	5.0	5.0	0.66597	Acyl-CoA N-acyltransferase (2);MOZ/SAS-like protein (1);	0.000000	0.85682	D	0.000000	T	0.77184	0.4093	H	0.95004	3.61	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.999;0.999	D	0.83910	0.0295	10	0.87932	D	0	-12.9844	15.8333	0.78778	0.0:1.0:0.0:0.0	.	288;340;255;307	B4E3C7;Q92993-3;Q92993-2;Q92993	.;.;.;KAT5_HUMAN	C	307;255;340;288;96	ENSP00000366245:R307C;ENSP00000344955:R255C;ENSP00000340330:R340C;ENSP00000434765:R288C	ENSP00000340330:R340C	R	+	1	0	KAT5	65238946	0.988000	0.35896	0.925000	0.36789	0.907000	0.53573	2.874000	0.48483	2.579000	0.87056	0.561000	0.74099	CGT		0.507	KAT5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390866.2	NM_006388		4	37	0	0	0	1	0	4	37					T	65482370	C	T	65482370	3	4	140	1	0	0	0	0	1	0	0	0	7983	536	19	1	1048	1	KAT5	11	65482370	Missense_Mutation	SNP	C	TCGA-EJ-AB27-01A-11D-A41K-08	48066536	65482370	69524146	23	7008											
SYNRG	11276	broad.mit.edu	37	chr17	35902595	35902595	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	catccctgtctgaccagtcaTagcttgtaagtgtgctcact	8	13	8	12	0	3	1	2	1	1	0	4	1	4	1	2	0	2	3	2	0	2	3			TCGA-EJ-AB27-01A-11D-A41K-08	TCGA-EJ-AB27-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62df5841-58c1-43a6-a145-848601f9209c	a5c0313c-ca6b-401e-b90c-7d321d458a31	g.chr17:35902595T>C	ENST00000339208.6	-	15	2821	c.2681A>G	c.(2680-2682)tAt>tGt	p.Y894C	SYNRG_ENST00000346661.4_Missense_Mutation_p.Y894C|SYNRG_ENST00000345615.4_Missense_Mutation_p.Y816C|SYNRG_ENST00000585472.1_Missense_Mutation_p.Y815C|SYNRG_ENST00000394378.2_Missense_Mutation_p.Y816C|SYNRG_ENST00000502449.2_Intron|SYNRG_ENST00000591288.1_Intron	NM_001163544.1|NM_001163545.1|NM_007247.4	NP_001157016.1|NP_001157017.1|NP_009178.3	Q9UMZ2	SYNRG_HUMAN	synergin, gamma	894					endocytosis (GO:0006897)|intracellular protein transport (GO:0006886)	AP-1 adaptor complex (GO:0030121)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)	calcium ion binding (GO:0005509)			breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						TGACCAGTCATAGCTTGTAAG	0.443																																						ENST00000339208.6																			0				breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						c.(2680-2682)tAt>tGt		synergin, gamma							73	75	75					17																	35902595		2203	4300	6503	SO:0001583	missense	11276				endocytosis|intracellular protein transport	AP-1 adaptor complex	calcium ion binding	g.chr17:35902595T>C	AF169548	CCDS11321.1, CCDS11322.1, CCDS11322.2, CCDS54113.1, CCDS54114.1, CCDS59284.1, CCDS59285.1	17q12	2014-04-16	2009-07-20	2009-07-20	ENSG00000006114	ENSG00000275066			557	protein-coding gene	gene with protein product	"gamma-synergin", "adaptor-related protein complex 1 gamma subunit-binding protein 1"	607291	"AP1 gamma subunit binding protein 1"	AP1GBP1		10477754	Standard	XM_005256980		Approved	SYNG, MGC104959	uc010wdf.2	Q9UMZ2	OTTHUMG00000188473	ENST00000339208.6:c.2681A>G	17.37:g.35902595T>C	ENSP00000343610:p.Tyr894Cys					SYNRG_ENST00000345615.4_Missense_Mutation_p.Y816C|SYNRG_ENST00000591288.1_Intron|SYNRG_ENST00000394378.2_Missense_Mutation_p.Y816C|SYNRG_ENST00000585472.1_Missense_Mutation_p.Y815C|SYNRG_ENST00000502449.2_Intron|SYNRG_ENST00000346661.4_Missense_Mutation_p.Y894C	p.Y894C	NM_001163544.1|NM_001163545.1|NM_007247.4	NP_001157016.1|NP_001157017.1|NP_009178.3	Q9UMZ2	SYNRG_HUMAN			15	2821	-			894					A8MWU4|B7ZKZ2|B7ZKZ3|Q17RI2|Q5BKU5|Q6ZT17	Missense_Mutation	SNP	ENST00000339208.6	37	c.2681A>G	CCDS11321.1	.	.	.	.	.	.	.	.	.	.	T	9.910	1.209375	0.22289	.	.	ENSG00000006114	ENST00000346661;ENST00000345615;ENST00000502449;ENST00000394378	T;T	0.47177	1.42;0.85	5.95	-10.5	0.00291	.	0.700990	0.14713	N	0.302819	T	0.13072	0.0317	N	0.01874	-0.695	0.23361	N	0.997839	B;B;B;B;B	0.13145	0.007;0.007;0.007;0.001;0.001	B;B;B;B;B	0.11329	0.006;0.006;0.006;0.002;0.002	T	0.11494	-1.0585	10	0.38643	T	0.18	3.4872	5.2044	0.15283	0.0682:0.335:0.2662:0.3306	.	816;816;816;894;894	Q9UMZ2-3;A8MWU4;Q9UMZ2-4;Q9UMZ2-5;Q9UMZ2	.;.;.;.;SYNRG_HUMAN	C	894;894;816;816	ENSP00000005279:Y894C;ENSP00000377903:Y816C	ENSP00000315722:Y894C	Y	-	2	0	SYNRG	32976708	0.882000	0.30256	0.416000	0.26546	0.982000	0.71751	0.077000	0.14738	-2.198000	0.00749	-1.139000	0.01908	TAT		0.443	SYNRG-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256811.2	NM_007247		6	57	0	0	0	1	0	6	57					C	35902595	T	C	35902595	3	2	140	1	0	0	0	0	1	0	0	0	15457	1406	49	4	1368	4	SYNRG	17	35902595	Missense_Mutation	SNP	T	TCGA-EJ-AB27-01A-11D-A41K-08		35902595	45292615	24	7009											
THRA	7067	broad.mit.edu	37	chr17	38245543	38245543	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgagcactacgtcaaccaccGcaaacacaacattccgcact	14	5	5	17	4	1	0	1	0	0	0	2	1	2	0	3	0	5	3	3	0	4	2			TCGA-EJ-AB27-01A-11D-A41K-08	TCGA-EJ-AB27-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62df5841-58c1-43a6-a145-848601f9209c	a5c0313c-ca6b-401e-b90c-7d321d458a31	g.chr17:38245543G>A	ENST00000264637.4	+	9	1647	c.1067G>A	c.(1066-1068)cGc>cAc	p.R356H	THRA_ENST00000546243.1_Missense_Mutation_p.R356H|THRA_ENST00000584985.1_Missense_Mutation_p.R356H|THRA_ENST00000450525.2_Missense_Mutation_p.R356H|THRA_ENST00000394121.4_Missense_Mutation_p.R356H	NM_003250.5	NP_003241.2	P10827	THA_HUMAN	thyroid hormone receptor, alpha	356	Ligand-binding.				cartilage condensation (GO:0001502)|cytoplasmic sequestering of transcription factor (GO:0042994)|erythrocyte differentiation (GO:0030218)|female courtship behavior (GO:0008050)|gene expression (GO:0010467)|hormone-mediated signaling pathway (GO:0009755)|learning or memory (GO:0007611)|negative regulation of DNA-templated transcription, initiation (GO:2000143)|negative regulation of RNA polymerase II transcriptional preinitiation complex assembly (GO:0017055)|negative regulation of transcription, DNA-templated (GO:0045892)|ossification (GO:0001503)|positive regulation of female receptivity (GO:0045925)|positive regulation of myotube differentiation (GO:0010831)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of heart contraction (GO:0008016)|regulation of lipid catabolic process (GO:0050994)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of thyroid hormone mediated signaling pathway (GO:0002155)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to cold (GO:0009409)|thyroid gland development (GO:0030878)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|Type I pneumocyte differentiation (GO:0060509)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|protein domain specific binding (GO:0019904)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|steroid receptor RNA activator RNA binding (GO:0002153)|TBP-class protein binding (GO:0017025)|thyroid hormone binding (GO:0070324)|thyroid hormone receptor activity (GO:0004887)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(3)|large_intestine(2)|lung(4)|prostate(1)	11	Colorectal(19;0.000442)	Myeloproliferative disorder(1115;0.0255)			Dextrothyroxine(DB00509)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)	GTCAACCACCGCAAACACAAC	0.597																																						ENST00000450525.2																			0				endometrium(1)|kidney(3)|large_intestine(2)|lung(4)|prostate(1)	11						c.(1066-1068)cGc>cAc		thyroid hormone receptor, alpha	Levothyroxine(DB00451)|Liothyronine(DB00279)						257	196	217					17																	38245543		2203	4300	6503	SO:0001583	missense	7067				negative regulation of RNA polymerase II transcriptional preinitiation complex assembly|negative regulation of transcription initiation, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription from RNA polymerase II promoter	cytosol|nucleoplasm	protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|TBP-class protein binding|thyroid hormone binding|thyroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr17:38245543G>A	J03239	CCDS11360.1, CCDS42316.1, CCDS58546.1	17q21.1	2013-01-16	2011-05-19		ENSG00000126351	ENSG00000126351		"Nuclear hormone receptors"	11796	protein-coding gene	gene with protein product		190120	"thyroid hormone receptor, alpha (avian erythroblastic leukemia viral (v-erb-a) oncogene homolog)", "thyroid hormone receptor, alpha (erythroblastic leukemia viral (v-erb-a) oncogene homolog, avian)"	THRA1, THRA2, ERBA1		6323162, 6589608	Standard	NM_003250		Approved	EAR-7.1/EAR-7.2, THRA3, AR7, ERBA, NR1A1	uc002htw.3	P10827	OTTHUMG00000133332	ENST00000264637.4:c.1067G>A	17.37:g.38245543G>A	ENSP00000264637:p.Arg356His					THRA_ENST00000546243.1_Missense_Mutation_p.R356H|THRA_ENST00000264637.4_Missense_Mutation_p.R356H|THRA_ENST00000584985.1_Missense_Mutation_p.R356H|THRA_ENST00000394121.4_Missense_Mutation_p.R356H	p.R356H	NM_199334.3	NP_955366.1	P10827	THA_HUMAN			9	1558	+	Colorectal(19;0.000442)	Myeloproliferative disorder(1115;0.0255)	356			Ligand-binding.		A8K3B5|P21205|Q8N6A1|Q96H73	Missense_Mutation	SNP	ENST00000264637.4	37	c.1067G>A	CCDS11360.1	.	.	.	.	.	.	.	.	.	.	g	25.5	4.648442	0.87958	.	.	ENSG00000126351	ENST00000394121;ENST00000264637;ENST00000450525;ENST00000546243	D;D;D;D	0.96830	-4.14;-4.14;-4.14;-4.14	4.5	4.5	0.54988	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	0.000000	0.85682	D	0.000000	D	0.96855	0.8973	L	0.56396	1.775	0.80722	D	1	D;D;D	0.65815	0.991;0.971;0.995	P;P;P	0.58620	0.806;0.842;0.659	D	0.96930	0.9680	10	0.52906	T	0.07	.	16.1444	0.81555	0.0:0.0:1.0:0.0	.	356;356;356	P10827-3;P10827;Q6FH41	.;THA_HUMAN;.	H	356	ENSP00000377679:R356H;ENSP00000264637:R356H;ENSP00000395641:R356H;ENSP00000443972:R356H	ENSP00000264637:R356H	R	+	2	0	THRA	35499069	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.520000	0.81821	2.319000	0.78375	0.424000	0.28305	CGC		0.597	THRA-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000257160.2			6	162	0	0	0	1	0	6	162					A	38245543	G	A	38245543	3	1	140	1	0	0	0	0	1	0	0	0	15870	1087	38	1	1097	1	THRA	17	38245543	Missense_Mutation	SNP	G	TCGA-EJ-AB27-01A-11D-A41K-08	2342948	38245543	42949667	25	7010											
DGKE	8526	broad.mit.edu	37	chr17	54940143	54940143	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gatcaagaagatataaaggcGactgaatagatggatgaggg	17	7	14	3	1	1	5	1	2	0	3	1	8	1	6	0	3	0	0	0	3	7	3			TCGA-EJ-AB27-01A-11D-A41K-08	TCGA-EJ-AB27-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62df5841-58c1-43a6-a145-848601f9209c	a5c0313c-ca6b-401e-b90c-7d321d458a31	g.chr17:54940143G>A	ENST00000284061.3	+	12	1875	c.1695G>A	c.(1693-1695)gcG>gcA	p.A565A		NM_003647.2	NP_003638.1	P52429	DGKE_HUMAN	diacylglycerol kinase, epsilon 64kDa	565					blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|phospholipid biosynthetic process (GO:0008654)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)			breast(3)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	25	Breast(9;3.59e-07)					ATATAAAGGCGACTGAATAGA	0.363																																						ENST00000284061.3																			0				breast(3)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	25						c.(1693-1695)gcG>gcA		diacylglycerol kinase, epsilon 64kDa							77	71	73					17																	54940143		2203	4300	6503	SO:0001819	synonymous_variant	8526				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|phospholipid biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding|protein binding	g.chr17:54940143G>A	U49379	CCDS11590.1	17q22	2008-07-18	2002-08-29			ENSG00000153933	2.7.1.107		2852	protein-coding gene	gene with protein product		601440	"diacylglycerol kinase, epsilon (64kD)"			8626589, 10051413	Standard	NM_003647		Approved	DAGK6, DGK	uc002iur.3	P52429		ENST00000284061.3:c.1695G>A	17.37:g.54940143G>A							p.A565A	NM_003647.2	NP_003638.1	P52429	DGKE_HUMAN			12	1875	+	Breast(9;3.59e-07)		565					Q8TBM4|Q9UKQ3	Silent	SNP	ENST00000284061.3	37	c.1695G>A	CCDS11590.1																																																																																				0.363	DGKE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440601.1	NM_003647		4	37	0	0	0	1	0	4	37					A	54940143	G	A	54940143	2	1	140	1	0	0	0	0	0	0	0	1	4468	1045	37	2		2	DGKE	17	54940143	Silent	SNP	G	TCGA-EJ-AB27-01A-11D-A41K-08	16694600	54940143	26255067	26	7011											
NPC1	4864	broad.mit.edu	37	chr18	21112187	21112187	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagaaatttagaagccgttcGcgctctgttcctttgtatcg	8	15	9	9	4	1	2	0	0	1	2	4	2	2	2	2	0	1	4	2	0	5	7	rs375797728		TCGA-EJ-AB27-01A-11D-A41K-08	TCGA-EJ-AB27-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62df5841-58c1-43a6-a145-848601f9209c	a5c0313c-ca6b-401e-b90c-7d321d458a31	g.chr18:21112187G>A	ENST00000269228.5	-	25	4370	c.3816C>T	c.(3814-3816)cgC>cgT	p.R1272R	NPC1_ENST00000412552.2_Silent_p.R954R	NM_000271.4	NP_000262.2	O15118	NPC1_HUMAN	Niemann-Pick disease, type C1	1272					adult walking behavior (GO:0007628)|autophagy (GO:0006914)|bile acid metabolic process (GO:0008206)|cellular response to low-density lipoprotein particle stimulus (GO:0071404)|cellular response to steroid hormone stimulus (GO:0071383)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|endocytosis (GO:0006897)|establishment of protein localization to membrane (GO:0090150)|lysosomal transport (GO:0007041)|membrane raft organization (GO:0031579)|negative regulation of cell death (GO:0060548)|negative regulation of macroautophagy (GO:0016242)|protein glycosylation (GO:0006486)|response to cadmium ion (GO:0046686)|response to drug (GO:0042493)|signal transduction (GO:0007165)	endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|membrane raft (GO:0045121)|nuclear envelope (GO:0005635)|perinuclear region of cytoplasm (GO:0048471)	cholesterol binding (GO:0015485)|hedgehog receptor activity (GO:0008158)|receptor activity (GO:0004872)|sterol transporter activity (GO:0015248)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(10)|lung(13)|ovary(2)|stomach(1)	38	all_cancers(21;0.000106)|all_epithelial(16;6.57e-07)|Lung NSC(20;0.00166)|all_lung(20;0.00536)|Colorectal(14;0.0202)|Ovarian(20;0.127)					GAAGCCGTTCGCGCTCTGTTC	0.498																																						ENST00000269228.5																			0				breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(10)|lung(13)|ovary(2)|stomach(1)	38						c.(3814-3816)cgC>cgT		Niemann-Pick disease, type C1							184	168	174					18																	21112187		2203	4300	6503	SO:0001819	synonymous_variant	4864				autophagy|bile acid metabolic process|cholesterol efflux|cholesterol homeostasis|lysosomal transport	endoplasmic reticulum|integral to plasma membrane|late endosome membrane|lysosomal membrane|nuclear envelope|perinuclear region of cytoplasm	hedgehog receptor activity|protein binding|sterol transporter activity	g.chr18:21112187G>A	AF002020	CCDS11878.1	18q11.2	2014-06-17			ENSG00000141458	ENSG00000141458			7897	protein-coding gene	gene with protein product		607623				8446622	Standard	NM_000271		Approved		uc002kum.4	O15118	OTTHUMG00000131873	ENST00000269228.5:c.3816C>T	18.37:g.21112187G>A						NPC1_ENST00000412552.2_Silent_p.R954R	p.R1272R	NM_000271.4	NP_000262.2	O15118	NPC1_HUMAN			25	4370	-	all_cancers(21;0.000106)|all_epithelial(16;6.57e-07)|Lung NSC(20;0.00166)|all_lung(20;0.00536)|Colorectal(14;0.0202)|Ovarian(20;0.127)		1272					B4DET3|Q9P130	Silent	SNP	ENST00000269228.5	37	c.3816C>T	CCDS11878.1																																																																																				0.498	NPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254823.2	NM_000271		5	97	0	0	0	1	0	5	97					A	21112187	G	A	21112187	2	1	140	1	0	0	0	0	0	0	0	1	10570	1074	38	1		1	NPC1	18	21112187	Silent	SNP	G	TCGA-EJ-AB27-01A-11D-A41K-08		21112187	56965061	27	7012											
RNF138	51444	broad.mit.edu	37	chr18	29706716	29706716	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gccagattaccagaaatttcGttagtcatctaaatcagaga	15	11	7	8	1	3	3	2	0	1	3	4	4	3	3	2	0	1	1	2	0	5	4			TCGA-EJ-AB27-01A-11D-A41K-08	TCGA-EJ-AB27-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62df5841-58c1-43a6-a145-848601f9209c	a5c0313c-ca6b-401e-b90c-7d321d458a31	g.chr18:29706716G>A	ENST00000261593.3	+	7	1080	c.622G>A	c.(622-624)Gtt>Att	p.V208I	RNF138_ENST00000257190.5_Missense_Mutation_p.V114I|RP11-53I6.4_ENST00000583138.1_RNA	NM_001191324.1|NM_016271.4	NP_001178253.2|NP_057355.2	Q8WVD3	RN138_HUMAN	ring finger protein 138, E3 ubiquitin protein ligase	208					protein ubiquitination (GO:0016567)|Wnt signaling pathway (GO:0016055)	nucleus (GO:0005634)	ligase activity (GO:0016874)|protein kinase binding (GO:0019901)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(6)|skin(1)	12						CAGAAATTTCGTTAGTCATCT	0.289																																						ENST00000261593.3																			0				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(6)|skin(1)	12						c.(622-624)Gtt>Att		ring finger protein 138, E3 ubiquitin protein ligase							74	74	74					18																	29706716		2203	4296	6499	SO:0001583	missense	51444				Wnt receptor signaling pathway	intracellular	ligase activity|protein kinase binding|zinc ion binding	g.chr18:29706716G>A	AF162680	CCDS11903.1, CCDS11904.1	18q12.1	2013-01-28	2012-02-23		ENSG00000134758	ENSG00000134758		"RING-type (C3HC4) zinc fingers"	17765	protein-coding gene	gene with protein product	"nemo-like kinase associated ring finger protein"		"ring finger protein 138"			22155992, 16714285	Standard	NM_016271		Approved	STRIN, NARF	uc021uip.2	Q8WVD3	OTTHUMG00000132265	ENST00000261593.3:c.622G>A	18.37:g.29706716G>A	ENSP00000261593:p.Val208Ile					RNF138_ENST00000257190.5_Missense_Mutation_p.V114I	p.V208I	NM_001191324.1|NM_016271.4	NP_001178253.2|NP_057355.2	Q8WVD3	RN138_HUMAN			7	1080	+			208					B2RE17|Q9H8K2|Q9UF87|Q9UKI6	Missense_Mutation	SNP	ENST00000261593.3	37	c.622G>A	CCDS11903.1	.	.	.	.	.	.	.	.	.	.	G	5.224	0.226783	0.09916	.	.	ENSG00000134758	ENST00000261593;ENST00000257190	D	0.87334	-2.24	4.98	4.98	0.66077	.	0.084455	0.50627	D	0.000119	T	0.70842	0.3270	N	0.19112	0.55	0.80722	D	1	P;P	0.45428	0.858;0.778	B;B	0.33846	0.171;0.074	T	0.74203	-0.3741	10	0.05833	T	0.94	-0.1167	12.0644	0.53580	0.0789:0.0:0.921:0.0	.	114;208	Q8WVD3-2;Q8WVD3	.;RN138_HUMAN	I	208;114	ENSP00000261593:V208I	ENSP00000257190:V114I	V	+	1	0	RNF138	27960714	1.000000	0.71417	1.000000	0.80357	0.585000	0.36419	3.588000	0.53964	2.473000	0.83533	0.561000	0.74099	GTT		0.289	RNF138-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255352.2	NM_016271		6	97	0	0	0	1	0	6	97					A	29706716	G	A	29706716	3	1	140	1	0	0	0	0	1	0	0	0	13441	1145	40	1	644	1	RNF138	18	29706716	Missense_Mutation	SNP	G	TCGA-EJ-AB27-01A-11D-A41K-08	8594529	29706716	48370532	28	7013											
NETO1	81832	broad.mit.edu	37	chr18	70461400	70461400	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cacttgcaatcaacagcctcGctagcagtagctttgccttc	9	11	7	14	1	1	0	1	0	0	0	3	0	1	0	2	0	6	5	2	0	4	5			TCGA-EJ-AB27-01A-11D-A41K-08	TCGA-EJ-AB27-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62df5841-58c1-43a6-a145-848601f9209c	a5c0313c-ca6b-401e-b90c-7d321d458a31	g.chr18:70461400G>A	ENST00000327305.6	-	6	1248	c.591C>T	c.(589-591)agC>agT	p.S197S	NETO1_ENST00000583169.1_Silent_p.S197S|NETO1_ENST00000299430.2_Silent_p.S196S	NM_138966.3	NP_620416	Q8TDF5	NETO1_HUMAN	neuropilin (NRP) and tolloid (TLL)-like 1	197	CUB 2. {ECO:0000255|PROSITE- ProRule:PRU00059}.				memory (GO:0007613)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|receptor localization to synapse (GO:0097120)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|visual learning (GO:0008542)	cell junction (GO:0030054)|excitatory synapse (GO:0060076)|extracellular region (GO:0005576)|kainate selective glutamate receptor complex (GO:0032983)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)		p.S197S(1)		NS(3)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(36)|ovary(2)|prostate(3)|skin(3)|stomach(1)	63		Esophageal squamous(42;0.129)		READ - Rectum adenocarcinoma(1;0.0487)		CAACAGCCTCGCTAGCAGTAG	0.463																																						ENST00000327305.6																			1	Substitution - coding silent(1)	p.S197S(1)	endometrium(1)	NS(3)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(36)|ovary(2)|prostate(3)|skin(3)|stomach(1)	63						c.(589-591)agC>agT		neuropilin (NRP) and tolloid (TLL)-like 1							187	163	171					18																	70461400		2203	4300	6503	SO:0001819	synonymous_variant	81832				memory|regulation of long-term neuronal synaptic plasticity|visual learning	cell junction|excitatory synapse|extracellular region|integral to membrane|postsynaptic density|postsynaptic membrane	receptor activity	g.chr18:70461400G>A	AF448838	CCDS12000.1, CCDS42444.1	18q22.2	2008-08-01			ENSG00000166342	ENSG00000166342			13823	protein-coding gene	gene with protein product		607973				11943477, 12810072	Standard	NM_138999		Approved	BTCL1, BCTL1	uc002lkw.3	Q8TDF5	OTTHUMG00000132834	ENST00000327305.6:c.591C>T	18.37:g.70461400G>A						NETO1_ENST00000299430.2_Silent_p.S196S|NETO1_ENST00000583169.1_Silent_p.S197S	p.S197S	NM_138966.3	NP_620416.1	Q8TDF5	NETO1_HUMAN		READ - Rectum adenocarcinoma(1;0.0487)	6	1248	-		Esophageal squamous(42;0.129)	197			CUB 2.		Q86W85|Q8ND78|Q8TDF4	Silent	SNP	ENST00000327305.6	37	c.591C>T	CCDS12000.1																																																																																				0.463	NETO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256301.2	NM_138999		4	64	0	0	0	1	0	4	64					A	70461400	G	A	70461400	2	1	140	1	0	0	0	0	0	0	0	1	10339	1078	38	1		1	NETO1	18	70461400	Silent	SNP	G	TCGA-EJ-AB27-01A-11D-A41K-08	40754684	70461400	7615848	29	7014											
ZNF407	55628	broad.mit.edu	37	chr18	72589312	72589312	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atgaaagaccactacaggacGcacacaggtgtgccgcgccg	12	4	12	13	4	0	2	0	1	0	1	0	3	0	3	3	2	2	1	3	2	2	1			TCGA-EJ-AB27-01A-11D-A41K-08	TCGA-EJ-AB27-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62df5841-58c1-43a6-a145-848601f9209c	a5c0313c-ca6b-401e-b90c-7d321d458a31	g.chr18:72589312G>A	ENST00000299687.5	+	4	5037	c.5037G>A	c.(5035-5037)acG>acA	p.T1679T	ZNF407_ENST00000577538.1_Silent_p.T1679T|ZNF407_ENST00000584235.1_3'UTR	NM_017757.2	NP_060227.2	Q9C0G0	ZN407_HUMAN	zinc finger protein 407	1679					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2)	67		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.184)		ACTACAGGACGCACACAGGTG	0.537																																						ENST00000299687.5																			0				central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2)	67						c.(5035-5037)acG>acA		zinc finger protein 407							85	87	86					18																	72589312		1952	4145	6097	SO:0001819	synonymous_variant	55628				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr18:72589312G>A	AB051490	CCDS45885.1, CCDS54191.1, CCDS58634.1	18q23	2013-01-08			ENSG00000215421	ENSG00000215421		"Zinc fingers, C2H2-type"	19904	protein-coding gene	gene with protein product		615894				11214970	Standard	NM_017757		Approved	FLJ20307, FLJ13839, KIAA1703	uc002llw.2	Q9C0G0		ENST00000299687.5:c.5037G>A	18.37:g.72589312G>A						ZNF407_ENST00000584235.1_3'UTR|ZNF407_ENST00000577538.1_Silent_p.T1679T	p.T1679T	NM_017757.2	NP_060227.2	Q9C0G0	ZN407_HUMAN		BRCA - Breast invasive adenocarcinoma(31;0.184)	4	5037	+		Esophageal squamous(42;0.131)|Prostate(75;0.173)	1679					B5MD54|Q96MY0|Q9H8A1|Q9NXD4|Q9NXD7	Silent	SNP	ENST00000299687.5	37	c.5037G>A	CCDS45885.1																																																																																				0.537	ZNF407-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444903.1	NM_017757		4	46	0	0	0	1	0	4	46					A	72589312	G	A	72589312	2	1	140	1	0	0	0	0	0	0	0	1	17884	1074	38	1		1	ZNF407	18	72589312	Silent	SNP	G	TCGA-EJ-AB27-01A-11D-A41K-08	2127912	72589312	5487936	30	7015											
ATP13A1	57130	broad.mit.edu	37	chr19	19766138	19766138	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cactcacagagcttggccagGgcgatgagggaggtgttgac	9	7	16	9	1	1	3	1	2	0	1	1	5	1	4	1	4	1	2	1	4	0	2	rs530016450		TCGA-EJ-AB27-01A-11D-A41K-08	TCGA-EJ-AB27-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62df5841-58c1-43a6-a145-848601f9209c	a5c0313c-ca6b-401e-b90c-7d321d458a31	g.chr19:19766138G>A	ENST00000357324.6	-	11	1547	c.1521C>T	c.(1519-1521)gcC>gcT	p.A507A	ATP13A1_ENST00000496082.1_5'UTR|ATP13A1_ENST00000291503.5_Silent_p.A389A	NM_020410.2	NP_065143.2	Q9HD20	AT131_HUMAN	ATPase type 13A1	507						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)			central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29						GCTTGGCCAGGGCGATGAGGG	0.627																																					Esophageal Squamous(142;920 1789 9047 14684 24777)	ENST00000357324.6																			0				central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29						c.(1519-1521)gcC>gcT		ATPase type 13A1							90	78	82					19																	19766138		2203	4300	6503	SO:0001819	synonymous_variant	57130				ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding	g.chr19:19766138G>A	AK056420	CCDS32970.2	19p13.11	2010-04-20	2005-01-12	2005-01-12	ENSG00000105726	ENSG00000105726		"ATPases / P-type"	24215	protein-coding gene	gene with protein product	"cation transporting ATPase"		"ATPase type 13A"	ATP13A		11347906	Standard	NM_020410		Approved	KIAA1825, FLJ31858, CGI-152	uc002nnh.4	Q9HD20	OTTHUMG00000153016	ENST00000357324.6:c.1521C>T	19.37:g.19766138G>A						ATP13A1_ENST00000291503.5_Silent_p.A389A|ATP13A1_ENST00000496082.1_5'UTR	p.A507A	NM_020410.2	NP_065143.2	Q9HD20	AT131_HUMAN			11	1547	-			507					B3KPJ2|B3KTA7|Q6NT90|Q6ZMG7|Q9H6C6	Silent	SNP	ENST00000357324.6	37	c.1521C>T	CCDS32970.2																																																																																				0.627	ATP13A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329005.1	NM_020410		3	24	0	0	0	1	0	3	24					A	19766138	G	A	19766138	2	1	140	1	0	0	0	0	0	0	0	1	1123	1219	43	3		3	ATP13A1	19	19766138	Silent	SNP	G	TCGA-EJ-AB27-01A-11D-A41K-08		19766138	39362845	31	7016											
RALGAPA2	57186	broad.mit.edu	37	chr20	20592031	20592031	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctttggcttctgcatgacAgcttctgttatcctgagtag	6	16	9	10	0	2	2	0	2	2	0	4	2	4	2	2	1	2	5	2	1	2	5			TCGA-EJ-AB27-01A-11D-A41K-08	TCGA-EJ-AB27-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62df5841-58c1-43a6-a145-848601f9209c	a5c0313c-ca6b-401e-b90c-7d321d458a31	g.chr20:20592031A>G	ENST00000202677.7	-	14	1735	c.1728T>C	c.(1726-1728)gcT>gcC	p.A576A		NM_020343.3	NP_065076.2	Q2PPJ7	RGPA2_HUMAN	Ral GTPase activating protein, alpha subunit 2 (catalytic)	576					activation of Ral GTPase activity (GO:0032859)|membrane organization (GO:0061024)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	protein heterodimerization activity (GO:0046982)|Ral GTPase activator activity (GO:0017123)			endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	54						TCTGCATGACAGCTTCTGTTA	0.378																																						ENST00000202677.6																			0				endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	54						c.(1726-1728)gcT>gcC		Ral GTPase activating protein, alpha subunit 2 (catalytic)							247	235	238					20																	20592031		1855	4100	5955	SO:0001819	synonymous_variant	57186				activation of Ral GTPase activity	cytosol|nucleus	protein heterodimerization activity|Ral GTPase activator activity	g.chr20:20592031A>G	AL078634, DQ310704	CCDS46584.1	20p11.23	2009-09-09	2009-09-09	2009-09-09	ENSG00000188559	ENSG00000188559			16207	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 74"	C20orf74		16490346, 19520869	Standard	NM_020343		Approved	dJ1049G11.4, AS250, KIAA1272, RapGAPalpha2	uc002wrz.3	Q2PPJ7	OTTHUMG00000032010	ENST00000202677.7:c.1728T>C	20.37:g.20592031A>G							p.A576A	NM_020343.3	NP_065076.2	Q2PPJ7	RGPA2_HUMAN			14	1870	-			576					Q4VXU6|Q5JUA3|Q5JUA4|Q5T9K3|Q96CX9|Q9BQT7|Q9H9D9|Q9ULE8	Silent	SNP	ENST00000202677.7	37	c.1728T>C	CCDS46584.1	.	.	.	.	.	.	.	.	.	.	A	10.17	1.275695	0.23307	.	.	ENSG00000188559	ENST00000430436	.	.	.	4.96	2.46	0.29980	.	.	.	.	.	T	0.43500	0.1250	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.29912	-0.9996	4	.	.	.	.	1.7933	0.03056	0.5748:0.1386:0.1529:0.1337	.	.	.	.	P	393	.	.	L	-	2	0	RALGAPA2	20540031	0.989000	0.36119	1.000000	0.80357	0.997000	0.91878	0.361000	0.20267	0.681000	0.31386	0.383000	0.25322	CTG		0.378	RALGAPA2-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000471941.1	NM_020343		4	140	0	0	0	1	0	4	140					G	20592031	A	G	20592031	2	3	140	1	0	0	0	0	0	0	0	1	13014	175	7	4		4	RALGAPA2	20	20592031	Silent	SNP	A	TCGA-EJ-AB27-01A-11D-A41K-08		20592031	42433489	32	7017											
RNF160	26046	broad.mit.edu	37	chr21	30354640	30354640	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgaaacaatacaacttactgCgggtcactgagtgtatcagg	13	10	10	8	1	2	2	2	2	0	0	2	2	2	2	0	2	5	1	0	2	6	3	rs529154128		TCGA-EJ-AB27-01A-11D-A41K-08	TCGA-EJ-AB27-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62df5841-58c1-43a6-a145-848601f9209c	a5c0313c-ca6b-401e-b90c-7d321d458a31	g.chr21:30354640C>T	ENST00000361371.5	-	5	706	c.627G>A	c.(625-627)ccG>ccA	p.P209P	LTN1_ENST00000389194.2_Silent_p.P255P|LTN1_ENST00000389195.2_Silent_p.P255P			O94822	LTN1_HUMAN	listerin E3 ubiquitin protein ligase 1	209					protein ubiquitination (GO:0016567)		ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(19)|ovary(5)|pancreas(1)|prostate(2)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)	60						CAACTTACTGCGGGTCACTGA	0.348													C|||	1	0.000199681	0	0	5008	,	,		18468	0		0	False		,,,				2504	0.001					ENST00000361371.4																			0				NS(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(19)|ovary(5)|pancreas(1)|prostate(2)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)	60						c.(625-627)ccG>ccA		listerin E3 ubiquitin protein ligase 1							86	85	85					21																	30354640		2203	4300	6503	SO:0001819	synonymous_variant	26046						ligase activity|zinc ion binding	g.chr21:30354640C>T	AK001915	CCDS33527.1, CCDS33527.2	21q21.3	2013-01-09	2010-09-17	2010-09-17	ENSG00000198862	ENSG00000198862		"RING-type (C3HC4) zinc fingers"	13082	protein-coding gene	gene with protein product	"listerin"	613083	"chromosome 21 open reading frame 98", "zinc finger protein 294", "ring finger protein 160"	C21orf98, C21orf10, ZNF294, RNF160		20835226, 19196968	Standard	NM_015565		Approved	KIAA0714, FLJ11053, LISTERIN	uc002ymr.2	O94822	OTTHUMG00000078803	ENST00000361371.5:c.627G>A	21.37:g.30354640C>T						LTN1_ENST00000389194.2_Silent_p.P255P|LTN1_ENST00000389195.2_Silent_p.P255P	p.P209P	NM_015565.2	NP_056380.2	O94822	LTN1_HUMAN			5	777	-			209					A6NL41|A7E2D0|B2RTS0|C9J7U3|J3KPL4|Q05C47|Q9H8M4|Q9NUY5|Q9P0E9	Silent	SNP	ENST00000361371.5	37	c.627G>A																																																																																					0.348	LTN1-008	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000472108.1	NM_015565		4	38	0	0	0	1	0	4	38					T	30354640	C	T	30354640	2	4	140	1	0	0	0	0	0	0	0	1	13455	755	27	1		1	RNF160	21	30354640	Silent	SNP	C	TCGA-EJ-AB27-01A-11D-A41K-08		30354640	17775255	33	7018											
IGLL1	3543	broad.mit.edu	37	chr22	23917238	23917238	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cccccggggccagcacctggGgccagtccaggagccgcgct	5	3	15	18	3	0	0	0	0	0	0	1	1	1	1	7	5	2	2	7	5	0	0			TCGA-EJ-AB27-01A-11D-A41K-08	TCGA-EJ-AB27-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62df5841-58c1-43a6-a145-848601f9209c	a5c0313c-ca6b-401e-b90c-7d321d458a31	g.chr22:23917238G>C	ENST00000330377.2	-	2	355	c.238C>G	c.(238-240)Ccc>Gcc	p.P80A	IGLL1_ENST00000249053.3_Intron|AP000345.2_ENST00000458318.1_RNA|AP000345.2_ENST00000454863.1_RNA	NM_020070.3	NP_064455.1	P15814	IGLL1_HUMAN	immunoglobulin lambda-like polypeptide 1	80					immune response (GO:0006955)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)				kidney(1)|large_intestine(1)|lung(5)|skin(4)|stomach(1)	12						CAGCACCTGGGGCCAGTCCAG	0.622																																						ENST00000330377.2																			0				kidney(1)|large_intestine(1)|lung(5)|skin(4)|stomach(1)	12						c.(238-240)Ccc>Gcc		immunoglobulin lambda-like polypeptide 1							52	53	52					22																	23917238		2203	4300	6503	SO:0001583	missense	3543				immune response	extracellular region|membrane		g.chr22:23917238G>C	X52204	CCDS13809.1, CCDS13810.1	22q11.23	2014-09-17			ENSG00000128322	ENSG00000128322		"CD molecules", "Immunoglobulin superfamily / C1-set domain containing"	5870	protein-coding gene	gene with protein product		146770		IGLL		3139558, 2511029	Standard	NM_020070		Approved	IGVPB, IGL5, 14.1, CD179B	uc002zxd.3	P15814	OTTHUMG00000150673	ENST00000330377.2:c.238C>G	22.37:g.23917238G>C	ENSP00000329312:p.Pro80Ala					IGLL1_ENST00000249053.3_Intron	p.P80A	NM_020070.3	NP_064455.1	P15814	IGLL1_HUMAN			2	355	-			80					Q0P681	Missense_Mutation	SNP	ENST00000330377.2	37	c.238C>G	CCDS13809.1	.	.	.	.	.	.	.	.	.	.	-	10.27	1.304787	0.23736	.	.	ENSG00000128322	ENST00000330377;ENST00000438703	T;T	0.01025	6.72;5.43	1.74	0.286	0.15710	.	.	.	.	.	T	0.00875	0.0029	M	0.61703	1.905	0.22001	N	0.999423	P	0.43477	0.808	B	0.33254	0.16	T	0.40175	-0.9577	9	0.10111	T	0.7	.	4.3958	0.11362	0.0:0.0:0.6139:0.3861	.	80	P15814	IGLL1_HUMAN	A	80;81	ENSP00000329312:P80A;ENSP00000403391:P81A	ENSP00000329312:P80A	P	-	1	0	IGLL1	22247238	0.023000	0.18921	0.996000	0.52242	0.016000	0.09150	0.312000	0.19397	0.936000	0.37367	0.152000	0.16155	CCC		0.622	IGLL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319569.1	NM_020070		4	34	0	0	0	1	0	4	34					C	23917238	G	C	23917238	3	2	140	1	0	0	0	0	1	0	0	0	7593	1232	43	5	411	5	IGLL1	22	23917238	Missense_Mutation	SNP	G	TCGA-EJ-AB27-01A-11D-A41K-08		23917238	27387328	34	7019											
EMD	2010	broad.mit.edu	37	chrX	153609503	153609503	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cttttcctggtctttgtgatCgtcctcttcttcatttacca	4	20	5	12	1	4	1	1	1	3	0	7	1	6	1	3	1	1	0	3	1	1	7			TCGA-EJ-AB27-01A-11D-A41K-08	TCGA-EJ-AB27-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62df5841-58c1-43a6-a145-848601f9209c	a5c0313c-ca6b-401e-b90c-7d321d458a31	g.chrX:153609503C>T	ENST00000369842.4	+	6	999	c.711C>T	c.(709-711)atC>atT	p.I237I	EMD_ENST00000369835.3_Silent_p.I202I|EMD_ENST00000492448.1_3'UTR	NM_000117.2	NP_000108.1	P50402	EMD_HUMAN	emerin	237					cellular response to growth factor stimulus (GO:0071363)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mitotic nuclear envelope reassembly (GO:0007084)|muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|negative regulation of catenin import into nucleus (GO:0035414)|negative regulation of fibroblast proliferation (GO:0048147)|positive regulation of protein export from nucleus (GO:0046827)|regulation of canonical Wnt signaling pathway (GO:0060828)|skeletal muscle cell differentiation (GO:0035914)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|microtubule (GO:0005874)|nuclear envelope (GO:0005635)|nuclear inner membrane (GO:0005637)|nuclear membrane (GO:0031965)|nuclear outer membrane (GO:0005640)	actin binding (GO:0003779)|beta-tubulin binding (GO:0048487)			lung(5)	5	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					TCTTTGTGATCGTCCTCTTCT	0.592																																						ENST00000369842.4																			0				lung(5)	5						c.(709-711)atC>atT		emerin							62	55	57					X																	153609503		2202	4300	6502	SO:0001819	synonymous_variant	2010				cellular response to growth factor stimulus|muscle contraction|muscle organ development|negative regulation of catenin import into nucleus|negative regulation of fibroblast proliferation|positive regulation of protein export from nucleus|regulation of canonical Wnt receptor signaling pathway	endoplasmic reticulum|integral to membrane|microtubule|nuclear inner membrane|nuclear outer membrane	actin binding|beta-tubulin binding	g.chrX:153609503C>T	X82434	CCDS14745.1	Xq27.3-q28	2014-09-17	2008-07-29		ENSG00000102119	ENSG00000102119			3331	protein-coding gene	gene with protein product	"LEM domain containing 5"	300384	"Emery-Dreifuss muscular dystrophy"				Standard	NM_000117		Approved	STA, LEMD5	uc004fkl.3	P50402	OTTHUMG00000033186	ENST00000369842.4:c.711C>T	X.37:g.153609503C>T						EMD_ENST00000492448.1_3'UTR|EMD_ENST00000369835.3_Silent_p.I202I	p.I237I	NM_000117.2	NP_000108.1	P50402	EMD_HUMAN			6	999	+	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)		237					Q6FI02	Silent	SNP	ENST00000369842.4	37	c.711C>T	CCDS14745.1																																																																																				0.592	EMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080921.1			5	12	0	0	0	1	0	5	12					T	153609503	C	T	153609503	2	4	140	1	0	0	0	0	0	0	0	1	5087	874	31	2		2	EMD	23	153609503	Silent	SNP	C	TCGA-EJ-AB27-01A-11D-A41K-08		153609503	1661057	35	7020											
FLG2	388698	broad.mit.edu	37	chr1	152324407	152324407	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	tgtactcactgtggccagatCcccttcttccagttgtcctg	5	14	8	14	0	2	1	1	0	1	1	5	1	5	1	5	1	1	2	5	1	1	4			TCGA-FC-7708-01A-11D-2114-08	TCGA-FC-7708-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c977d3c1-60f0-4987-b74d-d523a17f3784	00d07ccd-92c1-4e36-9ccc-4dae23baa878	g.chr1:152324407C>G	ENST00000388718.5	-	3	5927	c.5855G>C	c.(5854-5856)gGa>gCa	p.G1952A	FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	1952					establishment of skin barrier (GO:0061436)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GTGGCCAGATCCCCTTCTTCC	0.527																																						ENST00000388718.5																			0				NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188						c.(5854-5856)gGa>gCa		filaggrin family member 2							326	307	313					1																	152324407		2203	4300	6503	SO:0001583	missense	388698						calcium ion binding|structural molecule activity	g.chr1:152324407C>G	AY827490	CCDS30861.1	1q21.3	2013-01-10			ENSG00000143520	ENSG00000143520		"EF-hand domain containing"	33276	protein-coding gene	gene with protein product						12477932	Standard	NM_001014342		Approved	IFPS	uc001ezw.4	Q5D862	OTTHUMG00000012245	ENST00000388718.5:c.5855G>C	1.37:g.152324407C>G	ENSP00000373370:p.Gly1952Ala					FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	p.G1952A	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	5927	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1952					Q9H4U1	Missense_Mutation	SNP	ENST00000388718.5	37	c.5855G>C	CCDS30861.1	.	.	.	.	.	.	.	.	.	.	c	1.767	-0.485355	0.04352	.	.	ENSG00000143520	ENST00000388718	T	0.04360	3.64	3.91	-3.47	0.04753	.	.	.	.	.	T	0.01222	0.0040	L	0.59436	1.845	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.48305	-0.9047	9	0.10377	T	0.69	0.2959	6.2752	0.20977	0.0:0.2193:0.4883:0.2924	.	1952	Q5D862	FILA2_HUMAN	A	1952	ENSP00000373370:G1952A	ENSP00000373370:G1952A	G	-	2	0	FLG2	150591031	0.000000	0.05858	0.000000	0.03702	0.046000	0.14306	-1.819000	0.01716	-0.486000	0.06744	-0.371000	0.07208	GGA		0.527	FLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034018.5	NM_001014342		4	347	0	0	0	1	0	4	347					G	152324407	C	G	152324407	3	3	141	1	0	0	0	0	1	0	0	0	5923	855	30	5	1324	5	FLG2	1	152324407	Missense_Mutation	SNP	C	TCGA-FC-7708-01A-11D-2114-08		152324407	96926214	1	7021											
GPATCH4	54865	broad.mit.edu	37	chr1	156565214	156565214	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcctccaagacccccatctTctcctcttcatggtgccacc	6	12	4	19	0	4	1	1	0	3	1	7	1	6	1	7	1	1	0	7	1	1	3			TCGA-FC-7708-01A-11D-2114-08	TCGA-FC-7708-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c977d3c1-60f0-4987-b74d-d523a17f3784	00d07ccd-92c1-4e36-9ccc-4dae23baa878	g.chr1:156565214T>C	ENST00000438976.2	-	8	949	c.919A>G	c.(919-921)Aag>Gag	p.K307E	GPATCH4_ENST00000368232.4_Missense_Mutation_p.K302E|GPATCH4_ENST00000497287.1_5'Flank			Q5T3I0	GPTC4_HUMAN	G patch domain containing 4	302							poly(A) RNA binding (GO:0044822)			autonomic_ganglia(1)|breast(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(2)|skin(3)|stomach(1)	17	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					ACCCCCATCTTCTCCTCTTCA	0.537																																						ENST00000368232.4																			0				autonomic_ganglia(1)|breast(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(2)|skin(3)|stomach(1)	17						c.(904-906)Aag>Gag		G patch domain containing 4							241	232	235					1																	156565214		2203	4300	6503	SO:0001583	missense	54865					intracellular	nucleic acid binding	g.chr1:156565214T>C	BC056904	CCDS1146.1, CCDS44245.1	1q22	2013-01-28		2006-12-13	ENSG00000160818	ENSG00000160818		"G patch domain containing"	25982	protein-coding gene	gene with protein product				GPATC4		12477932	Standard	NM_015590		Approved	FLJ20249, DKFZP434F1735	uc001fpl.3	Q5T3I0	OTTHUMG00000033203	ENST00000438976.2:c.919A>G	1.37:g.156565214T>C	ENSP00000396441:p.Lys307Glu					GPATCH4_ENST00000438976.2_Missense_Mutation_p.K307E	p.K302E	NM_015590.3|NM_182679.2	NP_056405.2|NP_872620.1	Q5T3I0	GPTC4_HUMAN			8	1036	-	all_hematologic(923;0.088)|Hepatocellular(266;0.158)		302					Q5T3I1|Q6ZUE7|Q8IWG8|Q9NXH4	Missense_Mutation	SNP	ENST00000438976.2	37	c.904A>G	CCDS44245.1	.	.	.	.	.	.	.	.	.	.	T	9.566	1.119799	0.20877	.	.	ENSG00000160818	ENST00000368232;ENST00000368229;ENST00000438976	T;T	0.43294	0.95;0.95	4.84	0.438	0.16560	.	1.997720	0.02395	N	0.080114	T	0.08403	0.0209	N	0.20807	0.61	0.19775	N	0.999959	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.08371	-1.0725	10	0.11794	T	0.64	.	4.5203	0.11956	0.1524:0.5536:0.0:0.294	.	307;302	E9PAV9;Q5T3I0	.;GPTC4_HUMAN	E	302;302;307	ENSP00000357215:K302E;ENSP00000396441:K307E	ENSP00000357212:K302E	K	-	1	0	GPATCH4	154831838	0.000000	0.05858	0.000000	0.03702	0.510000	0.34073	-0.310000	0.08135	-0.017000	0.14103	0.455000	0.32223	AAG		0.537	GPATCH4-015	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386947.1	NM_017725		25	172	0	0	0	1	0	25	172					C	156565214	T	C	156565214	3	2	141	1	0	0	0	0	1	0	0	0	6593	1792	62	4	212	4	GPATCH4	1	156565214	Missense_Mutation	SNP	T	TCGA-FC-7708-01A-11D-2114-08	4240807	156565214	92685407	2	7022											
FCGR2A	2212	broad.mit.edu	37	chr1	161479821	161479821	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cactgcacaggaaacataggCtacacgctgttctcatccaa	13	8	7	13	1	1	0	1	0	1	0	3	1	2	1	1	2	3	4	1	2	4	3	rs368752463		TCGA-FC-7708-01A-11D-2114-08	TCGA-FC-7708-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c977d3c1-60f0-4987-b74d-d523a17f3784	00d07ccd-92c1-4e36-9ccc-4dae23baa878	g.chr1:161479821C>A	ENST00000271450.6	+	4	614	c.576C>A	c.(574-576)ggC>ggA	p.G192G	FCGR2A_ENST00000367972.4_Silent_p.G191G	NM_001136219.1|NM_021642.3	NP_001129691.1|NP_067674.2	P12318	FCG2A_HUMAN	Fc fragment of IgG, low affinity IIa, receptor (CD32)	192	Ig-like C2-type 2.				Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(2)|endometrium(2)|large_intestine(2)|lung(11)|ovary(1)	19	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Intravenous Immunoglobulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	GAAACATAGGCTACACGCTGT	0.512																																						ENST00000271450.6																			0				autonomic_ganglia(1)|breast(2)|endometrium(2)|large_intestine(2)|lung(11)|ovary(1)	19						c.(574-576)ggC>ggA		Fc fragment of IgG, low affinity IIa, receptor (CD32)	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)						118	101	107					1																	161479821		2203	4300	6503	SO:0001819	synonymous_variant	2212					integral to membrane|plasma membrane	IgG binding|receptor activity	g.chr1:161479821C>A	J03619	CCDS30922.1, CCDS44264.1	1q23	2013-01-11	2005-02-02		ENSG00000143226	ENSG00000143226		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	3616	protein-coding gene	gene with protein product	"Immunoglobulin G Fc receptor II"	146790	"Fc fragment of IgG, low affinity IIa, receptor for (CD32)"	FCG2, FCGR2A1, FCGR2		2139735	Standard	NM_021642		Approved	CD32, CD32A, IGFR2, CDw32	uc001gan.3	P12318	OTTHUMG00000034469	ENST00000271450.6:c.576C>A	1.37:g.161479821C>A						FCGR2A_ENST00000367972.4_Silent_p.G191G|FCGR2A_ENST00000467525.1_3'UTR	p.G192G	NM_001136219.1|NM_021642.3	NP_001129691.1|NP_067674.2	P12318	FCG2A_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00376)		4	614	+	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		192			Ig-like C2-type 2.		Q8WUN1|Q8WW64	Silent	SNP	ENST00000271450.6	37	c.576C>A	CCDS44264.1																																																																																				0.512	FCGR2A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000083318.3	NM_021642		12	89	1	0	7.93312e-07	1	8.96788e-07	12	89					A	161479821	C	A	161479821	2	1	141	1	0	0	0	0	0	0	0	1	5781	784	28	5		5	FCGR2A	1	161479821	Silent	SNP	C	TCGA-FC-7708-01A-11D-2114-08	4914607	161479821	87770800	3	7023											
DCAF6	55827	broad.mit.edu	37	chr1	167973820	167973820	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttcctacggtcccatcaagTcctgatttggaagtgagtga	9	12	10	10	1	1	3	1	3	0	0	4	4	4	4	3	2	1	0	3	2	3	3			TCGA-FC-7708-01A-11D-2114-08	TCGA-FC-7708-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c977d3c1-60f0-4987-b74d-d523a17f3784	00d07ccd-92c1-4e36-9ccc-4dae23baa878	g.chr1:167973820T>C	ENST00000312263.6	+	10	1371	c.1167T>C	c.(1165-1167)agT>agC	p.S389S	DCAF6_ENST00000367843.3_Silent_p.S389S|DCAF6_ENST00000432587.2_Silent_p.S358S|DCAF6_ENST00000367840.3_Silent_p.S389S	NM_001017977.2	NP_001017977.1	Q58WW2	DCAF6_HUMAN	DDB1 and CUL4 associated factor 6	389					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein ubiquitination (GO:0016567)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(8)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	36						tcccatcaagtcctgatttgg	0.378																																						ENST00000367840.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(8)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	36						c.(1165-1167)agT>agC		DDB1 and CUL4 associated factor 6							56	52	53					1																	167973820		2202	4300	6502	SO:0001819	synonymous_variant	55827				positive regulation of transcription from RNA polymerase II promoter	CUL4 RING ubiquitin ligase complex|nucleus	ligand-dependent nuclear receptor transcription coactivator activity	g.chr1:167973820T>C	AL136738	CCDS1267.2, CCDS30933.1, CCDS55657.1, CCDS55658.1	1q23.3	2013-01-09	2009-07-17	2009-07-17	ENSG00000143164	ENSG00000143164		"WD repeat domain containing", "DDB1 and CUL4 associated factors"	30002	protein-coding gene	gene with protein product		610494	"IQ motif and WD repeats 1"	IQWD1		12032826	Standard	NM_018442		Approved	PC326	uc001gex.3	Q58WW2	OTTHUMG00000034572	ENST00000312263.6:c.1167T>C	1.37:g.167973820T>C						DCAF6_ENST00000312263.6_Silent_p.S389S|DCAF6_ENST00000367843.3_Silent_p.S389S|DCAF6_ENST00000432587.2_Silent_p.S358S	p.S389S	NM_001198956.1	NP_001185885.1	Q58WW2	DCAF6_HUMAN			10	1261	+			389					A2A295|B4DNB8|Q7L8I0|Q8IXH3|Q8TB19	Silent	SNP	ENST00000312263.6	37	c.1167T>C	CCDS30933.1																																																																																				0.378	DCAF6-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000083661.2	NM_018442		2	14	0	0	0	1	0	2	14					C	167973820	T	C	167973820	2	2	141	1	0	0	0	0	0	0	0	1	4274	1664	58	4		4	DCAF6	1	167973820	Silent	SNP	T	TCGA-FC-7708-01A-11D-2114-08	6493999	167973820	81276801	4	7024											
TRAF5	7188	broad.mit.edu	37	chr1	211534503	211534503	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcactatggctgtgctgtaaCggtatggaatgactttttgt	8	15	12	6	1	0	1	0	1	0	0	0	2	0	2	0	3	2	5	0	3	4	5	rs113925874	byFrequency	TCGA-FC-7708-01A-11D-2114-08	TCGA-FC-7708-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c977d3c1-60f0-4987-b74d-d523a17f3784	00d07ccd-92c1-4e36-9ccc-4dae23baa878	g.chr1:211534503C>T	ENST00000261464.5	+	7	749	c.695C>T	c.(694-696)aCg>aTg	p.T232M	TRAF5_ENST00000336184.2_Splice_Site_p.T232M|TRAF5_ENST00000367004.3_Splice_Site_p.T232M|TRAF5_ENST00000427925.2_Intron|TRAF5_ENST00000462410.1_3'UTR	NM_001033910.2	NP_001029082.1	O00463	TRAF5_HUMAN	TNF receptor-associated factor 5	232					apoptotic process (GO:0006915)|positive regulation of cell proliferation (GO:0008284)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)	CD40 receptor complex (GO:0035631)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)	signal transducer activity (GO:0004871)|thioesterase binding (GO:0031996)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				OV - Ovarian serous cystadenocarcinoma(81;0.00946)|all cancers(67;0.0808)|Epithelial(68;0.144)		TGTGCTGTAACGGTATGGAAT	0.413																																						ENST00000336184.2																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.e7+1		TNF receptor-associated factor 5		C	MET/THR,MET/THR,MET/THR	0,4406		0,0,2203	173	141	152		695,695,695	0.5	0.5	1	dbSNP_132	152	2,8598	2.2+/-6.3	0,2,4298	no	missense-near-splice,missense-near-splice,missense-near-splice	TRAF5	NM_001033910.2,NM_004619.3,NM_145759.2	81,81,81	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	benign,benign,benign	232/558,232/558,232/558	211534503	2,13004	2203	4300	6503	SO:0001630	splice_region_variant	7188				apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis	CD40 receptor complex|centrosome|internal side of plasma membrane	protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr1:211534503C>T	AB000509	CCDS1497.1	1q32	2008-02-05			ENSG00000082512	ENSG00000082512		"RING-type (C3HC4) zinc fingers"	12035	protein-coding gene	gene with protein product		602356				9126477	Standard	NM_001033910		Approved	RNF84	uc001hii.3	O00463	OTTHUMG00000036997	ENST00000261464.5:c.696+1C>T	1.37:g.211534503C>T						TRAF5_ENST00000367004.3_Splice_Site_p.T232_splice|TRAF5_ENST00000427925.2_Intron|TRAF5_ENST00000261464.5_Splice_Site_p.T232_splice|TRAF5_ENST00000462410.1_3'UTR	p.T232_splice	NM_004619.3	NP_004610.1	O00463	TRAF5_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.00946)|all cancers(67;0.0808)|Epithelial(68;0.144)	7	755	+			232					B4DIS9|B4E0A2|Q6FHY1	Splice_Site	SNP	ENST00000261464.5	37	c.696_splice	CCDS1497.1	.	.	.	.	.	.	.	.	.	.	C	7.032	0.560895	0.13498	0.0	2.33E-4	ENSG00000082512	ENST00000336184;ENST00000261464;ENST00000367004	T;T;T	0.31510	1.49;1.49;1.49	5.54	0.505	0.16953	Zinc finger, TRAF-type (1);TRAF-like (1);	0.119659	0.56097	D	0.000035	T	0.13157	0.0319	N	0.08118	0	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.08269	-1.0730	10	0.40728	T	0.16	-9.8049	6.7201	0.23325	0.4155:0.2435:0.0:0.341	.	243;232	B4E0A2;O00463	.;TRAF5_HUMAN	M	232	ENSP00000336825:T232M;ENSP00000261464:T232M;ENSP00000355971:T232M	ENSP00000261464:T232M	T	+	2	0	TRAF5	209601126	0.994000	0.37717	0.475000	0.27278	0.169000	0.22640	1.101000	0.31037	-0.162000	0.10964	-1.072000	0.02254	ACG		0.413	TRAF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089825.1	NM_004619	Missense_Mutation	10	55	0	0	0	1	0	10	55					T	211534503	C	T	211534503	5	4	141	1	0	0	0	0	0	0	1	0	16441	550	19	1	717	1	TRAF5	1	211534503	Splice_Site	SNP	C	TCGA-FC-7708-01A-11D-2114-08	43560683	211534503	37716118	5	7025											
ITPKB	3707	broad.mit.edu	37	chr1	226924561	226924561	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccccccaggactttgtcctcCgttcctcgctccgggcgccc	2	9	9	21	4	0	0	0	0	0	0	5	1	4	1	8	2	0	2	8	2	0	2			TCGA-FC-7708-01A-11D-2114-08	TCGA-FC-7708-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c977d3c1-60f0-4987-b74d-d523a17f3784	00d07ccd-92c1-4e36-9ccc-4dae23baa878	g.chr1:226924561C>A	ENST00000272117.3	-	1	598	c.599G>T	c.(598-600)cGg>cTg	p.R200L	ITPKB_ENST00000429204.1_Missense_Mutation_p.R200L|ITPKB_ENST00000366784.1_Missense_Mutation_p.R200L			P27987	IP3KB_HUMAN	inositol-trisphosphate 3-kinase B	200					cell surface receptor signaling pathway (GO:0007166)|inositol phosphate metabolic process (GO:0043647)|MAPK cascade (GO:0000165)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of Ras protein signal transduction (GO:0046579)|positive thymic T cell selection (GO:0045059)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	ATP binding (GO:0005524)|inositol-1,4,5-trisphosphate 3-kinase activity (GO:0008440)			central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(4)|prostate(1)|skin(1)	30		Prostate(94;0.0773)				CTTTGTCCTCCGTTCCTCGCT	0.662																																					Colon(84;110 1851 5306 33547)	ENST00000429204.1																			0				central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(4)|prostate(1)|skin(1)	30						c.(598-600)cGg>cTg		inositol-trisphosphate 3-kinase B							30	36	34					1																	226924561		2199	4281	6480	SO:0001583	missense	3707						ATP binding|calmodulin binding|inositol trisphosphate 3-kinase activity	g.chr1:226924561C>A	AJ242780	CCDS1555.1	1q42.12	2011-04-28	2011-04-28		ENSG00000143772	ENSG00000143772	2.7.1.127		6179	protein-coding gene	gene with protein product		147522	"inositol 1,4,5-trisphosphate 3-kinase B"			1654894, 1330886	Standard	NM_002221		Approved	IP3KB, IP3-3KB	uc010pvo.2	P27987	OTTHUMG00000037582	ENST00000272117.3:c.599G>T	1.37:g.226924561C>A	ENSP00000272117:p.Arg200Leu					ITPKB_ENST00000366784.1_Missense_Mutation_p.R200L|ITPKB_ENST00000272117.3_Missense_Mutation_p.R200L	p.R200L	NM_002221.3	NP_002212.3	P27987	IP3KB_HUMAN			2	926	-		Prostate(94;0.0773)	200					Q5VWL9|Q5VWM0|Q96BZ2|Q96JS1|Q9UH47	Missense_Mutation	SNP	ENST00000272117.3	37	c.599G>T	CCDS1555.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.055678	0.75960	.	.	ENSG00000143772	ENST00000272117;ENST00000429204;ENST00000366784	T;T;T	0.37411	1.26;1.26;1.2	4.6	4.6	0.57074	.	0.000000	0.47455	D	0.000224	T	0.39733	0.1089	L	0.27053	0.805	0.31771	N	0.632077	D	0.69078	0.997	P	0.60117	0.869	T	0.35325	-0.9793	10	0.27785	T	0.31	.	12.3982	0.55397	0.0:0.8301:0.1699:0.0	.	200	P27987	IP3KB_HUMAN	L	200	ENSP00000272117:R200L;ENSP00000411152:R200L;ENSP00000355748:R200L	ENSP00000272117:R200L	R	-	2	0	ITPKB	224991184	0.947000	0.32204	0.988000	0.46212	0.985000	0.73830	2.977000	0.49297	2.374000	0.81015	0.561000	0.74099	CGG		0.662	ITPKB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091632.1	NM_002221		3	71	1	0	1	1	1	3	71					A	226924561	C	A	226924561	3	1	141	1	0	0	0	0	1	0	0	0	7918	652	23	5	2269	5	ITPKB	1	226924561	Missense_Mutation	SNP	C	TCGA-FC-7708-01A-11D-2114-08	15390058	226924561	22326060	6	7026											
ANKRD36	375248	broad.mit.edu	37	chr2	97847365	97847368	+	Splice_Site	DEL	TAAT	TAAT	-																															gaaacaaccagctgagaaggTaattaaagtctcatttatat																								rs375413411		TCGA-FC-7708-01A-11D-2114-08	TCGA-FC-7708-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c977d3c1-60f0-4987-b74d-d523a17f3784	00d07ccd-92c1-4e36-9ccc-4dae23baa878	g.chr2:97847365_97847368delTAAT	ENST00000461153.2	+	25	2008		c.e25+2		ANKRD36_ENST00000420699.2_Splice_Site			A6QL64	AN36A_HUMAN	ankyrin repeat domain 36											endometrium(9)|kidney(5)|liver(1)|lung(3)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23						GCTGAGAAGGTAATTAAAGTCTCA	0.314																																						ENST00000420699.2																			0				endometrium(9)|kidney(5)|liver(1)|lung(3)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23						c.e25+2		ankyrin repeat domain 36																																				SO:0001630	splice_region_variant	375248							g.chr2:97847365_97847368delTAAT	BC046186	CCDS54379.1	2q11.2	2013-09-24			ENSG00000135976	ENSG00000135976		"Ankyrin repeat domain containing"	24079	protein-coding gene	gene with protein product						12975309	Standard	NM_001164315		Approved	UNQ2430	uc010yva.2	A6QL64	OTTHUMG00000155256	ENST00000461153.2:c.1764+2TAAT>-	2.37:g.97847365_97847368delTAAT						ANKRD36_ENST00000461153.2_Splice_Site		NM_001164315.1	NP_001157787.1	A6QL64	AN36A_HUMAN			25	2008	+								B4E3I8|Q6UX02|Q86X62|Q9HCD1	Splice_Site	DEL	ENST00000461153.2	37		CCDS54379.1																																																																																				0.314	ANKRD36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339154.5		Intron	6	13						6	13	---	---	---	---	-	97847368	TAAT	-	97847365	8	5	141	1	0	1	0	1	0	0	1	0	665	1652	57	0	1864	0	ANKRD36	2	97847365	Splice_Site	DEL	TAAT	TCGA-FC-7708-01A-11D-2114-08		97847365	145352008	7	7027											
ZAP70	7535	broad.mit.edu	37	chr2	98351131	98351131	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gctgacattgaacttggctgCggcaactttggctcagtgcg	7	11	13	10	2	1	2	1	2	0	0	1	2	1	2	0	3	4	4	0	3	2	3			TCGA-FC-7708-01A-11D-2114-08	TCGA-FC-7708-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c977d3c1-60f0-4987-b74d-d523a17f3784	00d07ccd-92c1-4e36-9ccc-4dae23baa878	g.chr2:98351131C>T	ENST00000264972.5	+	9	1253	c.1038C>T	c.(1036-1038)tgC>tgT	p.C346C	ZAP70_ENST00000442208.1_Silent_p.C220C|ZAP70_ENST00000451498.2_Silent_p.C39C|ZAP70_ENST00000463643.1_3'UTR	NM_001079.3	NP_001070.2	P43403	ZAP70_HUMAN	zeta-chain (TCR) associated protein kinase 70kDa	346	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				adaptive immune response (GO:0002250)|B cell activation (GO:0042113)|beta selection (GO:0043366)|immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|negative thymic T cell selection (GO:0045060)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of alpha-beta T cell proliferation (GO:0046641)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of T cell differentiation (GO:0045582)|positive thymic T cell selection (GO:0045059)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|T cell activation (GO:0042110)|T cell aggregation (GO:0070489)|T cell differentiation (GO:0030217)|T cell migration (GO:0072678)|T cell receptor signaling pathway (GO:0050852)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|immunological synapse (GO:0001772)|plasma membrane (GO:0005886)|T cell receptor complex (GO:0042101)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	29						AACTTGGCTGCGGCAACTTTG	0.627																																						ENST00000264972.5																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	29						c.(1036-1038)tgC>tgT		zeta-chain (TCR) associated protein kinase 70kDa							150	127	135					2																	98351131		2203	4300	6503	SO:0001819	synonymous_variant	7535				immune response|intracellular protein kinase cascade|positive thymic T cell selection|T cell receptor signaling pathway	cytosol|T cell receptor complex	ATP binding|non-membrane spanning protein tyrosine kinase activity	g.chr2:98351131C>T	L05148	CCDS33254.1, CCDS33255.1	2q11-q13	2014-09-17	2002-08-29		ENSG00000115085	ENSG00000115085		"SH2 domain containing"	12858	protein-coding gene	gene with protein product		176947	"zeta-chain (TCR) associated protein kinase (70 kD)"	SRK		1423621	Standard	NM_001079		Approved	ZAP-70, STD	uc002syd.1	P43403	OTTHUMG00000153060	ENST00000264972.5:c.1038C>T	2.37:g.98351131C>T						ZAP70_ENST00000463643.1_3'UTR|ZAP70_ENST00000451498.2_Silent_p.C39C|ZAP70_ENST00000442208.1_Silent_p.C220C	p.C346C	NM_001079.3	NP_001070.2	P43403	ZAP70_HUMAN			9	1253	+			346			Protein kinase.		A6NFP4|Q6PIA4|Q8IXD6|Q9UBS6	Silent	SNP	ENST00000264972.5	37	c.1038C>T	CCDS33254.1																																																																																				0.627	ZAP70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329278.1			35	136	0	0	0	1	0	35	136					T	98351131	C	T	98351131	2	4	141	1	0	0	0	0	0	0	0	1	17511	776	27	1		1	ZAP70	2	98351131	Silent	SNP	C	TCGA-FC-7708-01A-11D-2114-08	503766	98351131	144848242	8	7028											
EPB41L5	57669	broad.mit.edu	37	chr2	120918486	120918486	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaatgagaataatgtgccccTccccaaagagtctcttgaga	14	9	8	10	0	1	3	0	2	1	3	3	5	2	3	4	0	1	0	4	0	4	2			TCGA-FC-7708-01A-11D-2114-08	TCGA-FC-7708-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c977d3c1-60f0-4987-b74d-d523a17f3784	00d07ccd-92c1-4e36-9ccc-4dae23baa878	g.chr2:120918486T>C	ENST00000263713.5	+	21	2037	c.1823T>C	c.(1822-1824)cTc>cCc	p.L608P	EPB41L5_ENST00000443902.2_Missense_Mutation_p.L608P|EPB41L5_ENST00000488691.1_3'UTR|EPB41L5_ENST00000452780.1_Missense_Mutation_p.L608P	NM_020909.3	NP_065960.2	Q9HCM4	E41L5_HUMAN	erythrocyte membrane protein band 4.1 like 5	608					actomyosin structure organization (GO:0031032)|apical constriction (GO:0003383)|axial mesoderm morphogenesis (GO:0048319)|cellular response to transforming growth factor beta stimulus (GO:0071560)|ectoderm development (GO:0007398)|embryonic foregut morphogenesis (GO:0048617)|endoderm development (GO:0007492)|epithelial to mesenchymal transition (GO:0001837)|in utero embryonic development (GO:0001701)|left/right axis specification (GO:0070986)|mesoderm migration involved in gastrulation (GO:0007509)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of protein binding (GO:0032091)|neural plate morphogenesis (GO:0001839)|paraxial mesoderm development (GO:0048339)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of protein binding (GO:0032092)|posttranscriptional regulation of gene expression (GO:0010608)|regulation of establishment of protein localization (GO:0070201)|somite rostral/caudal axis specification (GO:0032525)|substrate-dependent cell migration, cell attachment to substrate (GO:0006931)|unidimensional cell growth (GO:0009826)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(5)|lung(12)|ovary(1)	26						AATGTGCCCCTCCCCAAAGAG	0.393																																						ENST00000263713.5																			0				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(5)|lung(12)|ovary(1)	26						c.(1822-1824)cTc>cCc		erythrocyte membrane protein band 4.1 like 5							137	143	141					2																	120918486		2203	4300	6503	SO:0001583	missense	57669					cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding	g.chr2:120918486T>C	AK023019	CCDS2130.1, CCDS54392.1, CCDS54393.1	2q14.2	2009-07-28			ENSG00000115109	ENSG00000115109			19819	protein-coding gene	gene with protein product		611730					Standard	NM_001184937		Approved	KIAA1548, FLJ12957, BE37, YMO1	uc002tmg.3	Q9HCM4	OTTHUMG00000131433	ENST00000263713.5:c.1823T>C	2.37:g.120918486T>C	ENSP00000263713:p.Leu608Pro					EPB41L5_ENST00000452780.1_Missense_Mutation_p.L608P|EPB41L5_ENST00000443902.2_Missense_Mutation_p.L608P|EPB41L5_ENST00000488691.1_3'UTR	p.L608P	NM_020909.3	NP_065960.2	Q9HCM4	E41L5_HUMAN			21	2037	+			608					Q7Z5S1|Q8IZ12|Q9H975	Missense_Mutation	SNP	ENST00000263713.5	37	c.1823T>C	CCDS2130.1	.	.	.	.	.	.	.	.	.	.	T	14.29	2.492300	0.44352	.	.	ENSG00000115109	ENST00000263713;ENST00000443902;ENST00000452780	D;D;D	0.82433	-1.59;-1.61;-1.6	5.4	4.24	0.50183	.	0.824612	0.10499	N	0.667479	T	0.70098	0.3185	L	0.27053	0.805	0.19575	N	0.999969	P;B;B	0.34757	0.467;0.34;0.229	B;B;B	0.30495	0.116;0.116;0.04	T	0.58429	-0.7638	10	0.29301	T	0.29	.	7.4194	0.27063	0.0:0.0962:0.0:0.9038	.	608;608;608	Q9HCM4-3;Q9HCM4-4;Q9HCM4	.;.;E41L5_HUMAN	P	608	ENSP00000263713:L608P;ENSP00000393856:L608P;ENSP00000390439:L608P	ENSP00000263713:L608P	L	+	2	0	EPB41L5	120634956	0.009000	0.17119	0.010000	0.14722	0.551000	0.35334	0.899000	0.28417	2.160000	0.67779	0.533000	0.62120	CTC		0.393	EPB41L5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254230.2	NM_020909		3	167	0	0	0	1	0	3	167					C	120918486	T	C	120918486	3	2	141	1	0	0	0	0	1	0	0	0	5157	1551	54	4	2086	4	EPB41L5	2	120918486	Missense_Mutation	SNP	T	TCGA-FC-7708-01A-11D-2114-08	22567355	120918486	122280887	9	7029											
LYPD6B	130576	broad.mit.edu	37	chr2	150071135	150071135	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acactaatgcagtgtttgccGtaatgcacgctcagagaaca	13	9	9	10	2	1	1	1	0	0	1	1	2	1	1	1	0	4	5	1	0	3	3	rs373317284		TCGA-FC-7708-01A-11D-2114-08	TCGA-FC-7708-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c977d3c1-60f0-4987-b74d-d523a17f3784	00d07ccd-92c1-4e36-9ccc-4dae23baa878	g.chr2:150071135G>A	ENST00000409029.1	+	7	665	c.463G>A	c.(463-465)Gta>Ata	p.V155I	LYPD6B_ENST00000409876.1_Missense_Mutation_p.V155I|LYPD6B_ENST00000280115.7_Missense_Mutation_p.V179I|LYPD6B_ENST00000498249.1_3'UTR|LYPD6B_ENST00000409642.3_Missense_Mutation_p.V179I			Q8NI32	LPD6B_HUMAN	LY6/PLAUR domain containing 6B	155						anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				endometrium(3)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	11						AGTGTTTGCCGTAATGCACGC	0.483																																						ENST00000409642.3																			0				endometrium(3)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	11						c.(535-537)Gta>Ata		LY6/PLAUR domain containing 6B		G	ILE/VAL	0,4126		0,0,2063	176	176	176		535	0.9	0	2		176	1,8403		0,1,4201	no	missense	LYPD6B	NM_177964.3	29	0,1,6264	AA,AG,GG		0.0119,0.0,0.0080	benign	179/208	150071135	1,12529	2063	4202	6265	SO:0001583	missense	130576					anchored to membrane|plasma membrane		g.chr2:150071135G>A		CCDS46423.1	2q23.2	2012-07-20			ENSG00000150556	ENSG00000150556			27018	protein-coding gene	gene with protein product	"cancer/testis antigen 116"					18360792	Standard	NM_177964		Approved	CT116, LYPD7	uc002twv.1	Q8NI32	OTTHUMG00000153743	ENST00000409029.1:c.463G>A	2.37:g.150071135G>A	ENSP00000386650:p.Val155Ile					LYPD6B_ENST00000409029.1_Missense_Mutation_p.V155I|LYPD6B_ENST00000498249.1_3'UTR|LYPD6B_ENST00000409876.1_Missense_Mutation_p.V155I|LYPD6B_ENST00000280115.7_Missense_Mutation_p.V179I	p.V179I	NM_177964.3	NP_808879.2	Q8NI32	LPD6B_HUMAN			7	936	+			155					D3DP90|Q53TK0|Q7Z747|Q8IXK7	Missense_Mutation	SNP	ENST00000409029.1	37	c.535G>A		.	.	.	.	.	.	.	.	.	.	G	10.06	1.245572	0.22796	0.0	1.19E-4	ENSG00000150556	ENST00000409642;ENST00000409876;ENST00000409029;ENST00000280115	T;T;T;T	0.16597	2.33;2.33;2.33;2.33	5.78	0.937	0.19494	.	0.357652	0.26983	N	0.021502	T	0.11922	0.0290	L	0.35723	1.085	0.09310	N	1	B;B	0.21821	0.035;0.061	B;B	0.16722	0.01;0.016	T	0.28586	-1.0039	9	.	.	.	-22.7644	10.208	0.43124	0.3397:0.0:0.6603:0.0	.	155;179	Q8NI32;Q8NI32-2	LPD6B_HUMAN;.	I	179;155;155;179	ENSP00000387077:V179I;ENSP00000386479:V155I;ENSP00000386650:V155I;ENSP00000280115:V179I	.	V	+	1	0	LYPD6B	149779381	0.832000	0.29368	0.002000	0.10522	0.186000	0.23388	1.506000	0.35747	0.113000	0.18004	-1.871000	0.00553	GTA		0.483	LYPD6B-003	KNOWN	alternative_5_UTR|basic	protein_coding	protein_coding	OTTHUMT00000332299.2	NM_177964		4	189	0	0	0	1	0	4	189					A	150071135	G	A	150071135	3	1	141	1	0	0	0	0	1	0	0	0	9115	1145	40	1	557	1	LYPD6B	2	150071135	Missense_Mutation	SNP	G	TCGA-FC-7708-01A-11D-2114-08	29152649	150071135	93128238	10	7030											
TMEFF2	23671	broad.mit.edu	37	chr2	192863886	192863886	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	taagatttcccatcagaagcGcagaggggattgaagttggt	12	10	13	6	1	1	4	1	1	0	3	2	5	2	5	1	3	1	2	1	3	3	4			TCGA-FC-7708-01A-11D-2114-08	TCGA-FC-7708-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c977d3c1-60f0-4987-b74d-d523a17f3784	00d07ccd-92c1-4e36-9ccc-4dae23baa878	g.chr2:192863886G>A	ENST00000272771.5	-	6	1769	c.585C>T	c.(583-585)tgC>tgT	p.C195C	TMEFF2_ENST00000487771.1_5'UTR|TMEFF2_ENST00000392314.1_Silent_p.C195C|AC098617.1_ENST00000424116.2_RNA|AC098617.1_ENST00000428980.2_RNA	NM_016192.2	NP_057276.2	Q9UIK5	TEFF2_HUMAN	transmembrane protein with EGF-like and two follistatin-like domains 2	195	Kazal-like 2. {ECO:0000255|PROSITE- ProRule:PRU00798}.					extracellular region (GO:0005576)|integral component of membrane (GO:0016021)				breast(2)|cervix(1)|kidney(2)|large_intestine(4)|liver(1)|lung(12)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27			OV - Ovarian serous cystadenocarcinoma(117;0.0835)			CATCAGAAGCGCAGAGGGGAT	0.373																																					Pancreas(50;1277 1381 28487 47072)	ENST00000392314.1																			0				breast(2)|cervix(1)|kidney(2)|large_intestine(4)|liver(1)|lung(12)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						c.(583-585)tgC>tgT		transmembrane protein with EGF-like and two follistatin-like domains 2							124	116	119					2																	192863886		2203	4299	6502	SO:0001819	synonymous_variant	23671					extracellular region|integral to membrane		g.chr2:192863886G>A	AB017269	CCDS2314.1	2q32.3	2010-05-04			ENSG00000144339	ENSG00000144339			11867	protein-coding gene	gene with protein product	"transmembrane protein TENB2", "tomoregulin", "cancer/testis antigen family 120, member 2"	605734				10903839	Standard	NM_016192		Approved	TENB2, HPP1, TR, TPEF, CT120.2	uc002utc.3	Q9UIK5	OTTHUMG00000132723	ENST00000272771.5:c.585C>T	2.37:g.192863886G>A						AC098617.1_ENST00000428980.2_RNA|TMEFF2_ENST00000272771.5_Silent_p.C195C|TMEFF2_ENST00000487771.1_5'UTR|AC098617.1_ENST00000424116.2_RNA	p.C195C			Q9UIK5	TEFF2_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0835)		6	976	-			195			Kazal-like 2.		Q2FA44|Q4ZFW4|Q53H90|Q53RE1|Q8N2R5|Q9NR15|Q9NSS5|Q9P2Y9|Q9UK65	Silent	SNP	ENST00000272771.5	37	c.585C>T	CCDS2314.1																																																																																				0.373	TMEFF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256065.2	NM_016192		14	72	0	0	0	1	0	14	72					A	192863886	G	A	192863886	2	1	141	1	0	0	0	0	0	0	0	1	16011	1079	38	1		1	TMEFF2	2	192863886	Silent	SNP	G	TCGA-FC-7708-01A-11D-2114-08	42792751	192863886	50335487	11	7031											
USP37	57695	broad.mit.edu	37	chr2	219353074	219353074	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	aattgaacgaggagggagtgGttttttcctacgaggaaggt	11	11	15	4	2	0	1	0	1	0	0	1	6	1	4	1	5	2	1	1	5	4	5			TCGA-FC-7708-01A-11D-2114-08	TCGA-FC-7708-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c977d3c1-60f0-4987-b74d-d523a17f3784	00d07ccd-92c1-4e36-9ccc-4dae23baa878	g.chr2:219353074G>T	ENST00000258399.3	-	15	1955	c.1543C>A	c.(1543-1545)Cca>Aca	p.P515T	USP37_ENST00000418019.1_Missense_Mutation_p.P515T|USP37_ENST00000454775.1_Missense_Mutation_p.P515T|USP37_ENST00000415516.1_Missense_Mutation_p.P443T|USP37_ENST00000475553.1_5'Flank	NM_020935.2	NP_065986	Q86T82	UBP37_HUMAN	ubiquitin specific peptidase 37	515	USP.				G1/S transition of mitotic cell cycle (GO:0000082)|mitotic nuclear division (GO:0007067)|protein deubiquitination (GO:0016579)|protein K11-linked deubiquitination (GO:0035871)|protein K48-linked deubiquitination (GO:0071108)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|protein kinase binding (GO:0019901)|ubiquitin-specific protease activity (GO:0004843)			NS(2)|breast(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|skin(5)|stomach(1)	35		Renal(207;0.0915)		Epithelial(149;1.08e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.00375)|Lung(261;0.00487)		GGAGGGAGTGGTTTTTTCCTA	0.323																																						ENST00000258399.3																			0				NS(2)|breast(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|skin(5)|stomach(1)	35						c.(1543-1545)Cca>Aca		ubiquitin specific peptidase 37							115	117	116					2																	219353074		2203	4300	6503	SO:0001583	missense	57695				ubiquitin-dependent protein catabolic process	nucleus	cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr2:219353074G>T	AB046814	CCDS2418.1	2q35	2008-02-05	2005-08-08		ENSG00000135913	ENSG00000135913		"Ubiquitin-specific peptidases"	20063	protein-coding gene	gene with protein product			"ubiquitin specific protease 37"			12838346	Standard	NM_020935		Approved	KIAA1594	uc010fvs.1	Q86T82	OTTHUMG00000133113	ENST00000258399.3:c.1543C>A	2.37:g.219353074G>T	ENSP00000258399:p.Pro515Thr					USP37_ENST00000415516.1_Missense_Mutation_p.P443T|USP37_ENST00000418019.1_Missense_Mutation_p.P515T|USP37_ENST00000454775.1_Missense_Mutation_p.P515T	p.P515T	NM_020935.2	NP_065986.2	Q86T82	UBP37_HUMAN		Epithelial(149;1.08e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.00375)|Lung(261;0.00487)	15	1955	-		Renal(207;0.0915)	515					A2RUQ8|B7ZM38|B7ZM41|E9PHL3|Q2KHT2|Q53S10|Q7Z3A5|Q9HCH8	Missense_Mutation	SNP	ENST00000258399.3	37	c.1543C>A	CCDS2418.1	.	.	.	.	.	.	.	.	.	.	G	10.96	1.498130	0.26861	.	.	ENSG00000135913	ENST00000258399;ENST00000454775;ENST00000415516;ENST00000418019	T;T;T;T	0.41400	1.0;1.0;1.03;1.0	5.16	5.16	0.70880	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.184108	0.47093	D	0.000249	T	0.23451	0.0567	N	0.04880	-0.145	0.80722	D	1	B;B	0.13594	0.008;0.002	B;B	0.15484	0.013;0.006	T	0.06075	-1.0847	10	0.36615	T	0.2	-10.9939	12.8558	0.57884	0.0855:0.0:0.9145:0.0	.	443;515	Q86T82-2;Q86T82	.;UBP37_HUMAN	T	515;515;443;515	ENSP00000258399:P515T;ENSP00000393662:P515T;ENSP00000400902:P443T;ENSP00000396585:P515T	ENSP00000258399:P515T	P	-	1	0	USP37	219061318	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	5.501000	0.66950	2.587000	0.87381	0.655000	0.94253	CCA		0.323	USP37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256779.3	NM_020935		8	85	1	0	7.48243e-07	1	8.64636e-07	8	85					T	219353074	G	T	219353074	3	4	141	1	0	0	0	0	1	0	0	0	17065	1261	44	5	1444	5	USP37	2	219353074	Missense_Mutation	SNP	G	TCGA-FC-7708-01A-11D-2114-08	26489188	219353074	23846299	12	7032											
CUL3	8452	broad.mit.edu	37	chr2	225370686	225370686	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tacttacccctttgactcccTttttcagcttatcatcaata	9	17	2	13	0	3	1	3	1	0	0	4	1	4	1	3	0	3	1	3	0	5	7			TCGA-FC-7708-01A-11D-2114-08	TCGA-FC-7708-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c977d3c1-60f0-4987-b74d-d523a17f3784	00d07ccd-92c1-4e36-9ccc-4dae23baa878	g.chr2:225370686T>C	ENST00000264414.4	-	8	1531	c.1193A>G	c.(1192-1194)aAg>aGg	p.K398R	CUL3_ENST00000409777.1_Missense_Mutation_p.K374R|CUL3_ENST00000344951.4_Missense_Mutation_p.K332R|CUL3_ENST00000409096.1_Missense_Mutation_p.K374R	NM_003590.4	NP_003581.1	Q13618	CUL3_HUMAN	cullin 3	398					cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|COPII vesicle coating (GO:0048208)|cyclin catabolic process (GO:0008054)|embryonic cleavage (GO:0040016)|ER to Golgi vesicle-mediated transport (GO:0006888)|G1/S transition of mitotic cell cycle (GO:0000082)|gastrulation (GO:0007369)|integrin-mediated signaling pathway (GO:0007229)|intrinsic apoptotic signaling pathway (GO:0097193)|mitotic metaphase plate congression (GO:0007080)|negative regulation of Rho protein signal transduction (GO:0035024)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokinesis (GO:0032467)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|stem cell division (GO:0017145)|stress fiber assembly (GO:0043149)|trophectodermal cellular morphogenesis (GO:0001831)|Wnt signaling pathway (GO:0016055)	Cul3-RING ubiquitin ligase complex (GO:0031463)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|membrane (GO:0016020)|nucleus (GO:0005634)|polar microtubule (GO:0005827)	POZ domain binding (GO:0031208)			endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(2)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	46		all_lung(227;0.00877)|Lung NSC(271;0.011)|Renal(207;0.0112)|all_hematologic(139;0.138)		Epithelial(121;1.58e-11)|all cancers(144;1.43e-08)|Lung(261;0.00863)|LUSC - Lung squamous cell carcinoma(224;0.00902)		TTTGACTCCCTTTTTCAGCTT	0.294																																						ENST00000264414.4																			0				endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(2)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	46						c.(1192-1194)aAg>aGg		cullin 3							69	69	69					2																	225370686		2203	4300	6503	SO:0001583	missense	8452				cell cycle arrest|cell migration|cyclin catabolic process|cytokinesis|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|mitotic anaphase|negative regulation of Rho protein signal transduction|positive regulation of cell proliferation|protein ubiquitination|stress fiber assembly	Cul3-RING ubiquitin ligase complex|Golgi apparatus|nucleus|polar microtubule	ubiquitin protein ligase binding	g.chr2:225370686T>C	U58089	CCDS2462.1, CCDS58751.1	2q36.2	2011-05-24			ENSG00000036257	ENSG00000036257			2553	protein-coding gene	gene with protein product		603136				8681378, 17192413	Standard	NM_003590		Approved		uc002vny.3	Q13618	OTTHUMG00000133167	ENST00000264414.4:c.1193A>G	2.37:g.225370686T>C	ENSP00000264414:p.Lys398Arg					CUL3_ENST00000409096.1_Missense_Mutation_p.K374R|CUL3_ENST00000344951.4_Missense_Mutation_p.K332R|CUL3_ENST00000409777.1_Missense_Mutation_p.K374R	p.K398R	NM_003590.4	NP_003581.1	Q13618	CUL3_HUMAN		Epithelial(121;1.58e-11)|all cancers(144;1.43e-08)|Lung(261;0.00863)|LUSC - Lung squamous cell carcinoma(224;0.00902)	8	1531	-		all_lung(227;0.00877)|Lung NSC(271;0.011)|Renal(207;0.0112)|all_hematologic(139;0.138)	398					A8K536|B8ZZC3|O75415|Q569L3|Q9UBI8|Q9UET7	Missense_Mutation	SNP	ENST00000264414.4	37	c.1193A>G	CCDS2462.1	.	.	.	.	.	.	.	.	.	.	T	17.44	3.390529	0.62066	.	.	ENSG00000036257	ENST00000264414;ENST00000344951;ENST00000409096;ENST00000409777	T;T;T;T	0.76448	-1.02;-1.02;-1.02;-1.02	5.63	5.63	0.86233	Cullin, N-terminal (1);Cullin homology (2);	0.000000	0.85682	D	0.000000	T	0.77968	0.4210	L	0.58925	1.835	0.80722	D	1	P;P;P	0.39131	0.661;0.579;0.579	B;B;B	0.42593	0.2;0.392;0.392	T	0.76852	-0.2806	10	0.34782	T	0.22	.	16.1413	0.81528	0.0:0.0:0.0:1.0	.	332;376;398	Q13618-3;Q53S54;Q13618	.;.;CUL3_HUMAN	R	398;332;374;374	ENSP00000264414:K398R;ENSP00000343601:K332R;ENSP00000387200:K374R;ENSP00000386525:K374R	ENSP00000264414:K398R	K	-	2	0	CUL3	225078930	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.655000	0.83696	2.270000	0.75569	0.482000	0.46254	AAG		0.294	CUL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256871.2			3	63	0	0	0	1	0	3	63					C	225370686	T	C	225370686	3	2	141	1	0	0	0	0	1	0	0	0	4056	1609	56	4	1149	4	CUL3	2	225370686	Missense_Mutation	SNP	T	TCGA-FC-7708-01A-11D-2114-08	6017612	225370686	17828687	13	7033											
SCN10A	6336	broad.mit.edu	37	chr3	38766807	38766807	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cttgctgcagctgctcctgcTagtgagagagggtcccaact	7	10	12	12	0	0	2	0	1	0	1	2	3	2	2	2	1	6	5	2	1	2	2			TCGA-FC-7708-01A-11D-2114-08	TCGA-FC-7708-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c977d3c1-60f0-4987-b74d-d523a17f3784	00d07ccd-92c1-4e36-9ccc-4dae23baa878	g.chr3:38766807T>C	ENST00000449082.2	-	17	3087		c.e17-2			NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit						AV node cell to bundle of His cell communication (GO:0086067)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of cardiac muscle contraction (GO:0055117)|regulation of heart rate (GO:0002027)|regulation of ion transmembrane transport (GO:0034765)|sensory perception (GO:0007600)|sensory perception of pain (GO:0019233)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	C-fiber (GO:0044299)|extracellular vesicular exosome (GO:0070062)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cinchocaine(DB00527)|Cocaine(DB00907)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Lacosamide(DB06218)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Orphenadrine(DB01173)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)|Valproic Acid(DB00313)	CTGCTCCTGCTAGTGAGAGAG	0.582																																						ENST00000449082.2																			0				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150						c.e17-2		sodium channel, voltage-gated, type X, alpha subunit	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)						47	42	44					3																	38766807		2203	4300	6503	SO:0001630	splice_region_variant	6336				sensory perception	voltage-gated sodium channel complex		g.chr3:38766807T>C	AF117907	CCDS33736.1	3p22.2	2012-02-26	2007-01-23		ENSG00000185313	ENSG00000185313		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10582	protein-coding gene	gene with protein product		604427	"sodium channel, voltage-gated, type X, alpha polypeptide"			9839820, 10198179, 16382098	Standard	NM_006514		Approved	Nav1.8, hPN3, SNS, PN3	uc003ciq.3	Q9Y5Y9	OTTHUMG00000048245	ENST00000449082.2:c.3088-2A>G	3.37:g.38766807T>C								NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	17	3087	-								A6NDQ1	Splice_Site	SNP	ENST00000449082.2	37		CCDS33736.1	.	.	.	.	.	.	.	.	.	.	T	11.88	1.771639	0.31320	.	.	ENSG00000185313	ENST00000449082	.	.	.	4.38	1.83	0.25207	.	.	.	.	.	.	.	.	.	.	.	0.49299	D	0.999778	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.2116	0.25937	0.3578:0.0:0.0:0.6422	.	.	.	.	.	-1	.	.	.	-	.	.	SCN10A	38741811	0.002000	0.14202	0.303000	0.25071	0.650000	0.38633	0.158000	0.16422	0.261000	0.21753	0.454000	0.30748	.		0.582	SCN10A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109745.3	NM_006514	Intron	7	28	0	0	0	1	0	7	28					C	38766807	T	C	38766807	5	2	141	1	0	0	0	0	0	0	1	0	13912	1536	53	4	2828	4	SCN10A	3	38766807	Splice_Site	SNP	T	TCGA-FC-7708-01A-11D-2114-08		38766807	159255623	14	7034											
DNAJC13	23317	broad.mit.edu	37	chr3	132196839	132196839	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atctaggtatgaatttttcaAtgagctttatcatcgcttct	10	18	6	7	1	4	2	2	2	2	0	5	2	4	2	0	1	1	3	0	1	5	7	rs387907571		TCGA-FC-7708-01A-11D-2114-08	TCGA-FC-7708-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c977d3c1-60f0-4987-b74d-d523a17f3784	00d07ccd-92c1-4e36-9ccc-4dae23baa878	g.chr3:132196839A>G	ENST00000260818.6	+	24	2812	c.2564A>G	c.(2563-2565)aAt>aGt	p.N855S		NM_015268.3	NP_056083.3	O75165	DJC13_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 13	855					osteoblast differentiation (GO:0001649)	extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)				breast(4)|endometrium(2)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|urinary_tract(1)	34						GAATTTTTCAATGAGCTTTAT	0.343																																						ENST00000260818.6																			0				breast(4)|endometrium(2)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|urinary_tract(1)	34						c.(2563-2565)aAt>aGt		DnaJ (Hsp40) homolog, subfamily C, member 13							58	61	60					3																	132196839		2203	4300	6503	SO:0001583	missense	23317						heat shock protein binding	g.chr3:132196839A>G	AB014578	CCDS33857.1	3q22.1	2011-09-02			ENSG00000138246	ENSG00000138246		"Heat shock proteins / DNAJ (HSP40)"	30343	protein-coding gene	gene with protein product		614334				12438707	Standard	NM_015268		Approved	RME8, KIAA0678	uc003eor.3	O75165	OTTHUMG00000159674	ENST00000260818.6:c.2564A>G	3.37:g.132196839A>G	ENSP00000260818:p.Asn855Ser						p.N855S	NM_015268.3	NP_056083.3	O75165	DJC13_HUMAN			24	2812	+			855					Q3L0T1|Q6PI82|Q6UJ77|Q6ZSW1|Q6ZUT5|Q86XG3|Q96DC1|Q9BWK9	Missense_Mutation	SNP	ENST00000260818.6	37	c.2564A>G	CCDS33857.1	.	.	.	.	.	.	.	.	.	.	A	19.97	3.924742	0.73213	.	.	ENSG00000138246	ENST00000260818	T	0.12361	2.69	5.41	5.41	0.78517	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.34832	0.0911	M	0.64170	1.965	0.80722	D	1	D	0.63880	0.993	D	0.72625	0.978	T	0.02705	-1.1121	10	0.49607	T	0.09	.	15.7331	0.77822	1.0:0.0:0.0:0.0	.	855	O75165	DJC13_HUMAN	S	855	ENSP00000260818:N855S	ENSP00000260818:N855S	N	+	2	0	DNAJC13	133679529	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	8.743000	0.91592	2.169000	0.68431	0.528000	0.53228	AAT		0.343	DNAJC13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356807.2	NM_015268		5	25	0	0	0	1	0	5	25					G	132196839	A	G	132196839	3	3	141	1	0	0	0	0	1	0	0	0	4632	101	4	4	2654	4	DNAJC13	3	132196839	Missense_Mutation	SNP	A	TCGA-FC-7708-01A-11D-2114-08	93430032	132196839	65825591	15	7035											
GABRB1	2560	broad.mit.edu	37	chr4	47427856	47427856	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagccgcgaggcctacgggCgcgccctggaccggcacggg	5	2	18	16	7	0	0	0	0	0	0	0	2	0	1	4	5	2	2	4	5	1	1			TCGA-FC-7708-01A-11D-2114-08	TCGA-FC-7708-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c977d3c1-60f0-4987-b74d-d523a17f3784	00d07ccd-92c1-4e36-9ccc-4dae23baa878	g.chr4:47427856C>T	ENST00000295454.3	+	9	1538	c.1246C>T	c.(1246-1248)Cgc>Tgc	p.R416C	GABRB1_ENST00000538619.1_Missense_Mutation_p.R346C	NM_000812.3	NP_000803.2	P18505	GBRB1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 1	416					cellular response to histamine (GO:0071420)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|GABA-A receptor complex (GO:1902711)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)|ligand-gated ion channel activity (GO:0015276)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44					Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Gamma Hydroxybutyric Acid(DB01440)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lindane(DB00431)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	GGCCTACGGGCGCGCCCTGGA	0.642																																						ENST00000295454.3																			0				central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						c.(1246-1248)Cgc>Tgc		gamma-aminobutyric acid (GABA) A receptor, beta 1	Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)						40	46	44					4																	47427856		2203	4299	6502	SO:0001583	missense	2560				synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chr4:47427856C>T		CCDS3474.1	4p12	2012-06-22			ENSG00000163288	ENSG00000163288		"GABA receptors", "Ligand-gated ion channels / GABA(A) receptors"	4081	protein-coding gene	gene with protein product	"GABA(A) receptor, beta 1"	137190					Standard	NM_000812		Approved		uc003gxh.3	P18505	OTTHUMG00000044269	ENST00000295454.3:c.1246C>T	4.37:g.47427856C>T	ENSP00000295454:p.Arg416Cys					GABRB1_ENST00000538619.1_Missense_Mutation_p.R346C	p.R416C	NM_000812.3	NP_000803.2	P18505	GBRB1_HUMAN			9	1538	+			416					B2R6U7|D6REL3|Q16166|Q8TBK3	Missense_Mutation	SNP	ENST00000295454.3	37	c.1246C>T	CCDS3474.1	.	.	.	.	.	.	.	.	.	.	C	11.28	1.593133	0.28357	.	.	ENSG00000163288	ENST00000295454;ENST00000538619	D;D	0.85861	-2.04;-2.04	5.38	5.38	0.77491	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.222175	0.37715	N	0.001962	D	0.90212	0.6940	M	0.81802	2.56	0.58432	D	0.999999	D;D	0.71674	0.998;0.996	P;P	0.57776	0.827;0.567	D	0.90597	0.4541	10	0.62326	D	0.03	-8.6877	11.9948	0.53196	0.287:0.713:0.0:0.0	.	346;416	F5GXV5;P18505	.;GBRB1_HUMAN	C	416;346	ENSP00000295454:R416C;ENSP00000440330:R346C	ENSP00000295454:R416C	R	+	1	0	GABRB1	47122613	0.999000	0.42202	0.993000	0.49108	0.039000	0.13416	2.371000	0.44248	2.803000	0.96430	0.650000	0.86243	CGC		0.642	GABRB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216896.1			8	28	0	0	0	1	0	8	28					T	47427856	C	T	47427856	3	4	141	1	0	0	0	0	1	0	0	0	6166	768	27	1	1280	1	GABRB1	4	47427856	Missense_Mutation	SNP	C	TCGA-FC-7708-01A-11D-2114-08		47427856	143726420	16	7036											
LRRC66	339977	broad.mit.edu	37	chr4	52869403	52869403	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tagaacctgtaattttttgaGgtccttgaaggcttgtgggg	8	15	13	5	0	0	3	0	2	0	1	1	3	1	3	2	4	1	2	2	4	4	7			TCGA-FC-7708-01A-11D-2114-08	TCGA-FC-7708-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c977d3c1-60f0-4987-b74d-d523a17f3784	00d07ccd-92c1-4e36-9ccc-4dae23baa878	g.chr4:52869403G>A	ENST00000343457.3	-	2	658	c.652C>T	c.(652-654)Ctc>Ttc	p.L218F		NM_001024611.1	NP_001019782.1	Q68CR7	LRC66_HUMAN	leucine rich repeat containing 66	218						integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(8)|lung(34)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	58						AATTTTTTGAGGTCCTTGAAG	0.348																																						ENST00000343457.3																			0				central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(8)|lung(34)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	58						c.(652-654)Ctc>Ttc		leucine rich repeat containing 66							86	80	82					4																	52869403		1806	4067	5873	SO:0001583	missense	339977					integral to membrane		g.chr4:52869403G>A	BC040414	CCDS43229.1	4q12	2008-08-08			ENSG00000188993	ENSG00000188993			34299	protein-coding gene	gene with protein product							Standard	XM_005265739		Approved		uc003gzi.3	Q68CR7	OTTHUMG00000160623	ENST00000343457.3:c.652C>T	4.37:g.52869403G>A	ENSP00000341944:p.Leu218Phe						p.L218F	NM_001024611.1	NP_001019782.1	Q68CR7	LRC66_HUMAN			2	658	-			218						Missense_Mutation	SNP	ENST00000343457.3	37	c.652C>T	CCDS43229.1	.	.	.	.	.	.	.	.	.	.	G	12.15	1.851691	0.32699	.	.	ENSG00000188993	ENST00000343457	T	0.70749	-0.51	5.55	3.81	0.43845	.	0.164203	0.29335	N	0.012456	D	0.83492	0.5266	M	0.87269	2.87	0.29523	N	0.85331	D	0.89917	1.0	D	0.81914	0.995	T	0.79376	-0.1829	10	0.72032	D	0.01	-5.429	8.6605	0.34091	0.0806:0.1521:0.7673:0.0	.	218	Q68CR7	LRC66_HUMAN	F	218	ENSP00000341944:L218F	ENSP00000341944:L218F	L	-	1	0	LRRC66	52564160	1.000000	0.71417	1.000000	0.80357	0.037000	0.13140	2.982000	0.49337	0.883000	0.36040	-0.136000	0.14681	CTC		0.348	LRRC66-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361473.1	NM_001024611		5	52	0	0	0	1	0	5	52					A	52869403	G	A	52869403	3	1	141	1	0	0	0	0	1	0	0	0	9018	1000	35	3	2002	3	LRRC66	4	52869403	Missense_Mutation	SNP	G	TCGA-FC-7708-01A-11D-2114-08	5441547	52869403	138284873	17	7037											
OTUD4	54726	broad.mit.edu	37	chr4	146058891	146058891	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtctttgcactctgctatcAacagagttggccccagggct	7	11	11	12	0	3	1	1	0	2	1	3	1	3	1	2	3	3	4	2	3	2	3			TCGA-FC-7708-01A-11D-2114-08	TCGA-FC-7708-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c977d3c1-60f0-4987-b74d-d523a17f3784	00d07ccd-92c1-4e36-9ccc-4dae23baa878	g.chr4:146058891A>C	ENST00000447906.2	-	21	3223	c.3036T>G	c.(3034-3036)gtT>gtG	p.V1012V	OTUD4_ENST00000454497.2_Silent_p.V947V|OTUD4_ENST00000455611.2_Intron			Q01804	OTUD4_HUMAN	OTU deubiquitinase 4	1012					protein K48-linked deubiquitination (GO:0071108)		poly(A) RNA binding (GO:0044822)|ubiquitin-specific protease activity (GO:0004843)			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33	all_hematologic(180;0.151)					CTCTGCTATCAACAGAGTTGG	0.388																																						ENST00000454497.2																			0				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33						c.(2839-2841)gtT>gtG		OTU domain containing 4							142	149	146					4																	146058891		2203	4299	6502	SO:0001819	synonymous_variant	54726						protein binding	g.chr4:146058891A>C		CCDS3764.1, CCDS47139.1	4q31.21	2014-02-24	2014-02-24		ENSG00000164164	ENSG00000164164		"OTU domain containing"	24949	protein-coding gene	gene with protein product		611744	"OTU domain containing 4"			1475186, 12727813, 19996094	Standard	NM_001102653		Approved	HSHIN1, KIAA1046, DUBA6	uc003ika.4	Q01804	OTTHUMG00000161480	ENST00000447906.2:c.3036T>G	4.37:g.146058891A>C						OTUD4_ENST00000447906.2_Silent_p.V1012V|OTUD4_ENST00000455611.2_Intron	p.V947V	NM_001102653.1	NP_001096123.1	Q01804	OTUD4_HUMAN			21	2978	-	all_hematologic(180;0.151)		1011					B4DYS4|Q147U2|Q1ZYK1|Q6PG39|Q96MQ5|Q9NT94|Q9UPV6	Silent	SNP	ENST00000447906.2	37	c.2841T>G																																																																																					0.388	OTUD4-004	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000365117.2	NM_017493		3	166	0	0	0	1	0	3	166					C	146058891	A	C	146058891	2	2	141	1	0	0	0	0	0	0	0	1	11314	117	5	5		5	OTUD4	4	146058891	Silent	SNP	A	TCGA-FC-7708-01A-11D-2114-08	93189488	146058891	45095385	18	7038											
FGF10	2255	broad.mit.edu	37	chr5	44388715	44388717	+	In_Frame_Del	DEL	AGC	AGC	-																															caccaagaacagcaacaaaaAgcagcagcagcagcagccgg																								rs576181814		TCGA-FC-7708-01A-11D-2114-08	TCGA-FC-7708-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c977d3c1-60f0-4987-b74d-d523a17f3784	00d07ccd-92c1-4e36-9ccc-4dae23baa878	g.chr5:44388715_44388717delAGC	ENST00000264664.4	-	1	182_184	c.68_70delGCT	c.(67-72)tgcttt>ttt	p.C23del	RP11-473L15.2_ENST00000502457.1_RNA	NM_004465.1	NP_004456.1	O15520	FGF10_HUMAN	fibroblast growth factor 10	23					actin cytoskeleton reorganization (GO:0031532)|activation of MAPK activity (GO:0000187)|angiogenesis (GO:0001525)|blood vessel remodeling (GO:0001974)|branch elongation involved in salivary gland morphogenesis (GO:0060667)|branching morphogenesis of an epithelial tube (GO:0048754)|bronchiole morphogenesis (GO:0060436)|bud elongation involved in lung branching (GO:0060449)|bud outgrowth involved in lung branching (GO:0060447)|determination of left/right symmetry (GO:0007368)|embryonic camera-type eye development (GO:0031076)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic genitalia morphogenesis (GO:0030538)|embryonic pattern specification (GO:0009880)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell migration (GO:0010631)|epithelial cell proliferation (GO:0050673)|epithelial cell proliferation involved in salivary gland morphogenesis (GO:0060664)|ERK1 and ERK2 cascade (GO:0070371)|establishment of mitotic spindle orientation (GO:0000132)|Fc-epsilon receptor signaling pathway (GO:0038095)|female genitalia morphogenesis (GO:0048807)|fibroblast growth factor receptor signaling pathway (GO:0008543)|fibroblast growth factor receptor signaling pathway involved in mammary gland specification (GO:0060595)|hair follicle morphogenesis (GO:0031069)|Harderian gland development (GO:0070384)|induction of positive chemotaxis (GO:0050930)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|keratinocyte proliferation (GO:0043616)|lacrimal gland development (GO:0032808)|limb bud formation (GO:0060174)|lung epithelium development (GO:0060428)|lung proximal/distal axis specification (GO:0061115)|lung saccule development (GO:0060430)|male genitalia morphogenesis (GO:0048808)|mammary gland bud formation (GO:0060615)|mesenchymal cell differentiation involved in lung development (GO:0060915)|mesenchymal-epithelial cell signaling involved in lung development (GO:0060496)|mesonephros development (GO:0001823)|metanephros development (GO:0001656)|metanephros morphogenesis (GO:0003338)|muscle cell fate commitment (GO:0042693)|negative regulation of cell cycle arrest (GO:0071157)|negative regulation of cell proliferation (GO:0008285)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|neurotrophin TRK receptor signaling pathway (GO:0048011)|odontogenesis of dentin-containing tooth (GO:0042475)|organ induction (GO:0001759)|otic vesicle formation (GO:0030916)|pancreas development (GO:0031016)|phosphatidylinositol-mediated signaling (GO:0048015)|pituitary gland development (GO:0021983)|positive chemotaxis (GO:0050918)|positive regulation of ATPase activity (GO:0032781)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of DNA repair (GO:0045739)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial cell proliferation involved in wound healing (GO:0060054)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of hair follicle cell proliferation (GO:0071338)|positive regulation of keratinocyte migration (GO:0051549)|positive regulation of keratinocyte proliferation (GO:0010838)|positive regulation of lymphocyte proliferation (GO:0050671)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of Ras protein signal transduction (GO:0046579)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of urothelial cell proliferation (GO:0050677)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|positive regulation of white fat cell proliferation (GO:0070352)|prostatic bud formation (GO:0060513)|protein localization to cell surface (GO:0034394)|radial glial cell differentiation (GO:0060019)|regulation of activin receptor signaling pathway (GO:0032925)|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling (GO:0060665)|regulation of saliva secretion (GO:0046877)|regulation of smoothened signaling pathway (GO:0008589)|response to estradiol (GO:0032355)|response to lipopolysaccharide (GO:0032496)|salivary gland development (GO:0007431)|secretion by lung epithelial cell involved in lung growth (GO:0061033)|semicircular canal fusion (GO:0060879)|smooth muscle cell differentiation (GO:0051145)|somatic stem cell maintenance (GO:0035019)|spleen development (GO:0048536)|submandibular salivary gland formation (GO:0060661)|tear secretion (GO:0070075)|thymus development (GO:0048538)|thyroid gland development (GO:0030878)|tissue regeneration (GO:0042246)|Type II pneumocyte differentiation (GO:0060510)|urothelial cell proliferation (GO:0050674)|white fat cell differentiation (GO:0050872)|wound healing (GO:0042060)	cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	chemoattractant activity (GO:0042056)|fibroblast growth factor receptor binding (GO:0005104)|growth factor activity (GO:0008083)|heparin binding (GO:0008201)|type 2 fibroblast growth factor receptor binding (GO:0005111)			haematopoietic_and_lymphoid_tissue(1)|lung(11)|skin(1)	13	Lung NSC(6;1.12e-06)					AGCAACAAAAAGCAGCAGCAGCA	0.537																																						ENST00000264664.4																			0				haematopoietic_and_lymphoid_tissue(1)|lung(11)|skin(1)	13						c.(67-72)ttt>t		fibroblast growth factor 10																																				SO:0001651	inframe_deletion	2255				actin cytoskeleton reorganization|activation of MAPK activity|bud outgrowth involved in lung branching|ERK1 and ERK2 cascade|fibroblast growth factor receptor signaling pathway involved in mammary gland specification|insulin receptor signaling pathway|lacrimal gland development|lung saccule development|mesonephros development|negative regulation of cell cycle arrest|positive regulation of ATPase activity|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of DNA repair|positive regulation of DNA replication|positive regulation of epithelial cell migration|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of ERK1 and ERK2 cascade|positive regulation of hair follicle cell proliferation|positive regulation of keratinocyte migration|positive regulation of keratinocyte proliferation|positive regulation of lymphocyte proliferation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of Ras protein signal transduction|positive regulation of transcription, DNA-dependent|positive regulation of urothelial cell proliferation|protein localization at cell surface|radial glial cell differentiation|regulation of saliva secretion|response to protein stimulus|secretion by lung epithelial cell involved in lung growth|tear secretion|thymus development|urothelial cell proliferation	cell surface|extracellular space|nucleus|plasma membrane	chemoattractant activity|growth factor activity|heparin binding|type 2 fibroblast growth factor receptor binding	g.chr5:44388715_44388717delAGC		CCDS3950.1	5p13-p12	2008-02-05			ENSG00000070193	ENSG00000070193			3666	protein-coding gene	gene with protein product		602115				9287324	Standard	NM_004465		Approved		uc003jog.1	O15520	OTTHUMG00000131153	ENST00000264664.4:c.68_70delGCT	5.37:g.44388724_44388726delAGC	ENSP00000264664:p.Cys23del						p.CF23del	NM_004465.1	NP_004456.1	O15520	FGF10_HUMAN			1	182_184	-	Lung NSC(6;1.12e-06)		23					C7FDY0|Q6FHR3|Q6FHT6|Q96P59	In_Frame_Del	DEL	ENST00000264664.4	37	c.68_70delGCT	CCDS3950.1																																																																																				0.537	FGF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253845.2	NM_004465		7	102						7	102	---	---	---	---	-	44388717	AGC	-	44388715	7	5	141	1	0	1	0	1	0	0	0	0	5839	72	3	0	568	0	FGF10	5	44388715	In_Frame_Del	DEL	AGC	TCGA-FC-7708-01A-11D-2114-08		44388715	136526545	19	7039											
CMYA5	202333	broad.mit.edu	37	chr5	79058905	79058905	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caccctccacccctgtgatcCgcgctgaggactgtactgtg	6	9	10	16	2	0	2	0	2	0	0	2	3	2	3	5	1	1	2	5	1	1	1			TCGA-FC-7708-01A-11D-2114-08	TCGA-FC-7708-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c977d3c1-60f0-4987-b74d-d523a17f3784	00d07ccd-92c1-4e36-9ccc-4dae23baa878	g.chr5:79058905C>A	ENST00000446378.2	+	9	11459	c.11428C>A	c.(11428-11430)Cgc>Agc	p.R3810S	CMYA5_ENST00000505466.1_3'UTR	NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	3810	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.			APSTPVIRAEDCTVCWNTAT -> GKEMDAKGALEDNAQFF TDS (in Ref. 2; CAD91143). {ECO:0000305}.	negative regulation of calcineurin-NFAT signaling cascade (GO:0070885)|negative regulation of protein phosphatase type 2B activity (GO:0032513)|regulation of skeletal muscle adaptation (GO:0014733)	costamere (GO:0043034)				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		CCCTGTGATCCGCGCTGAGGA	0.587																																						ENST00000446378.2																			0				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128						c.(11428-11430)Cgc>Agc		cardiomyopathy associated 5							52	54	54					5																	79058905		2101	4230	6331	SO:0001583	missense	202333					perinuclear region of cytoplasm		g.chr5:79058905C>A	AW755254, AL831986	CCDS47238.1	5q14.1	2013-02-11			ENSG00000164309	ENSG00000164309		"Tripartite motif containing / Tripartite motif containing", "A-kinase anchor proteins", "Fibronectin type III domain containing"	14305	protein-coding gene	gene with protein product	"genethonin-3", "tripartite motif-containing 76"	612193	"chromosome 5 open reading frame 10"	C5orf10		14688250	Standard	NM_153610		Approved	myospryn, SPRYD2, DKFZp451G223, TRIM76	uc003kgc.3	Q8N3K9	OTTHUMG00000162548	ENST00000446378.2:c.11428C>A	5.37:g.79058905C>A	ENSP00000394770:p.Arg3810Ser					CMYA5_ENST00000505466.1_3'UTR	p.R3810S	NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)	9	11459	+		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)	3810	APSTPVIRAEDCTVCWNTAT -> GKEMDAKGALEDNAQFF TDS (in Ref. 2; CAD91143).		Fibronectin type-III 2.		A0PJB7|Q05CT4|Q2NKX1|Q2T9G9|Q69YQ8|Q69YQ9|Q6P517|Q6P5U3|Q7Z4I1|Q86T34|Q86T49|Q8N3S4|Q8N3S7|Q8NAG8|Q9UK88	Missense_Mutation	SNP	ENST00000446378.2	37	c.11428C>A	CCDS47238.1	.	.	.	.	.	.	.	.	.	.	C	7.853	0.724432	0.15439	.	.	ENSG00000164309	ENST00000446378	T	0.51817	0.69	5.64	1.46	0.22682	Fibronectin, type III (3);	.	.	.	.	T	0.30727	0.0774	L	0.27053	0.805	0.09310	N	1	B	0.25809	0.135	B	0.22601	0.04	T	0.19451	-1.0305	9	0.46703	T	0.11	.	5.776	0.18279	0.2369:0.6367:0.0:0.1264	.	3810	Q8N3K9	CMYA5_HUMAN	S	3810	ENSP00000394770:R3810S	ENSP00000394770:R3810S	R	+	1	0	CMYA5	79094661	0.434000	0.25570	0.001000	0.08648	0.045000	0.14185	1.669000	0.37492	0.324000	0.23333	0.655000	0.94253	CGC		0.587	CMYA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369497.1	NM_153610		3	82	1	0	1	1	1	3	82					A	79058905	C	A	79058905	3	1	141	1	0	0	0	0	1	0	0	0	3590	652	23	5	11462	5	CMYA5	5	79058905	Missense_Mutation	SNP	C	TCGA-FC-7708-01A-11D-2114-08	34670190	79058905	101856355	20	7040											
HIST1H2BG	8339	broad.mit.edu	37	chr6	26216686	26216706	+	In_Frame_Del	DEL	GATGCCCATGGCCTTGGATGA	GATGCCCATGGCCTTGGATGA	-																															tcgttaacgaaggaattcatGatgcccatggccttggatga																								rs140919872|rs372917727|rs200965546	byFrequency	TCGA-FC-7708-01A-11D-2114-08	TCGA-FC-7708-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c977d3c1-60f0-4987-b74d-d523a17f3784	00d07ccd-92c1-4e36-9ccc-4dae23baa878	g.chr6:26216686_26216706delGATGCCCATGGCCTTGGATGA	ENST00000244601.3	-	1	166_186	c.166_186delTCATCCAAGGCCATGGGCATC	c.(166-186)tcatccaaggccatgggcatcdel	p.SSKAMGI56del	HIST1H2AE_ENST00000303910.2_5'Flank	NM_003518.3	NP_003509.1	P62807	H2B1C_HUMAN	histone cluster 1, H2bg	56					antibacterial humoral response (GO:0019731)|chromatin organization (GO:0006325)|defense response to Gram-positive bacterium (GO:0050830)|innate immune response in mucosa (GO:0002227)|nucleosome assembly (GO:0006334)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	8		all_hematologic(11;0.196)				AGGAATTCATGATGCCCATGGCCTTGGATGAGATGCCAGTA	0.538																																						ENST00000244601.3																			0				endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	8						c.(166-186)del		histone cluster 1, H2bg																																				SO:0001651	inframe_deletion	8339				defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding	g.chr6:26216686_26216706delGATGCCCATGGCCTTGGATGA	M60750	CCDS4594.1	6p21.3	2011-01-27	2006-10-11	2003-02-14	ENSG00000187990	ENSG00000273802		"Histones / Replication-dependent"	4746	protein-coding gene	gene with protein product		602798	"H2B histone family, member A", "histone 1, H2bg"	H2BFA		1916825, 12408966	Standard	NM_003518		Approved	H2B/a, H2B.1A	uc003ngz.2	P62807	OTTHUMG00000014446	ENST00000244601.3:c.166_186delTCATCCAAGGCCATGGGCATC	6.37:g.26216686_26216706delGATGCCCATGGCCTTGGATGA	ENSP00000244601:p.Ser56_Ile62del						p.SSKAMGI56del	NM_003518.3	NP_003509.1	P62807	H2B1C_HUMAN			1	166_186	-		all_hematologic(11;0.196)	56					P02278|Q3B872|Q4VB69|Q93078|Q93080	In_Frame_Del	DEL	ENST00000244601.3	37	c.166_186delTCATCCAAGGCCATGGGCATC	CCDS4594.1																																																																																				0.538	HIST1H2BG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040109.2	NM_003518		12	228						12	228	---	---	---	---	-	26216706	GATGCCCATGGCCTTGGATGA	-	26216686	7	5	141	1	0	1	0	1	0	0	0	0	7146	1280	45	0	198	0	HIST1H2BG	6	26216686	In_Frame_Del	DEL	GATGCCCATGGCCTTGGATGA	TCGA-FC-7708-01A-11D-2114-08		26216686	144898381	21	7041											
SNRPC	6631	broad.mit.edu	37	chr6	34738121	34738121	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccatatggggggccctcccAtgatgccaatgatgggccct	7	8	12	14	0	0	2	0	2	0	0	1	2	1	2	5	4	1	0	5	4	2	1			TCGA-FC-7708-01A-11D-2114-08	TCGA-FC-7708-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c977d3c1-60f0-4987-b74d-d523a17f3784	00d07ccd-92c1-4e36-9ccc-4dae23baa878	g.chr6:34738121A>T	ENST00000244520.5	+	5	442	c.304A>T	c.(304-306)Atg>Ttg	p.M102L	SNRPC_ENST00000374017.3_Missense_Mutation_p.M123L|SNRPC_ENST00000374018.1_Missense_Mutation_p.M61L|SNRPC_ENST00000474635.1_3'UTR	NM_003093.2	NP_003084.1			small nuclear ribonucleoprotein polypeptide C											endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|pancreas(1)	6						GGGCCCTCCCATGATGCCAAT	0.502																																					NSCLC(131;576 1831 5287 11175 13324)	ENST00000374017.3																			0				endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|pancreas(1)	6						c.(367-369)Atg>Ttg		small nuclear ribonucleoprotein polypeptide C							95	99	97					6																	34738121		2203	4300	6503	SO:0001583	missense	6631				spliceosomal snRNP assembly	Cajal body|U1 snRNP	protein homodimerization activity|single-stranded RNA binding|zinc ion binding	g.chr6:34738121A>T		CCDS34436.1	6p21	2014-03-06			ENSG00000124562	ENSG00000124562			11157	protein-coding gene	gene with protein product		603522				2971157, 8532530	Standard	NR_029472		Approved	U1-C, Yhc1	uc003ojt.2	P09234	OTTHUMG00000014555	ENST00000244520.5:c.304A>T	6.37:g.34738121A>T	ENSP00000244520:p.Met102Leu					SNRPC_ENST00000374018.1_Missense_Mutation_p.M61L|SNRPC_ENST00000474635.1_3'UTR|SNRPC_ENST00000244520.5_Missense_Mutation_p.M102L	p.M123L			P09234	RU1C_HUMAN			4	654	+			102						Missense_Mutation	SNP	ENST00000244520.5	37	c.367A>T	CCDS34436.1	.	.	.	.	.	.	.	.	.	.	A	18.97	3.735629	0.69189	.	.	ENSG00000124562	ENST00000244520;ENST00000374018;ENST00000374017	T;T;T	0.48522	0.81;0.81;0.81	5.0	5.0	0.66597	.	0.000000	0.85682	D	0.000000	T	0.30823	0.0777	L	0.49126	1.545	0.58432	D	0.999999	B	0.27068	0.167	B	0.38194	0.267	T	0.18713	-1.0328	10	0.10902	T	0.67	.	14.738	0.69430	1.0:0.0:0.0:0.0	.	102	P09234	RU1C_HUMAN	L	102;61;123	ENSP00000244520:M102L;ENSP00000363130:M61L;ENSP00000363129:M123L	ENSP00000244520:M102L	M	+	1	0	SNRPC	34846099	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.037000	0.93765	1.889000	0.54706	0.523000	0.50628	ATG		0.502	SNRPC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040255.1	NM_003093		16	90	0	0	0	1	0	16	90					T	34738121	A	T	34738121	3	4	141	1	0	0	0	0	1	0	0	0	14863	217	8	5	322	5	SNRPC	6	34738121	Missense_Mutation	SNP	A	TCGA-FC-7708-01A-11D-2114-08	8521435	34738121	136376946	22	7042											
MRPL2	51069	broad.mit.edu	37	chr6	43023654	43023654	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cctgcagctcggatatattgGgcaccccggcctggctcact	6	9	11	15	2	1	0	1	0	0	0	2	1	1	1	4	4	2	4	4	4	2	3			TCGA-FC-7708-01A-11D-2114-08	TCGA-FC-7708-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c977d3c1-60f0-4987-b74d-d523a17f3784	00d07ccd-92c1-4e36-9ccc-4dae23baa878	g.chr6:43023654G>A	ENST00000388752.3	-	5	1036	c.612C>T	c.(610-612)gcC>gcT	p.A204A	CUL7_ENST00000535468.1_5'Flank|CUL7_ENST00000265348.3_5'Flank|MRPL2_ENST00000489623.1_Intron|MRPL2_ENST00000230413.5_Silent_p.A204A	NM_015950.3	NP_057034.2	Q5T653	RM02_HUMAN	mitochondrial ribosomal protein L2	204					translation (GO:0006412)	mitochondrion (GO:0005739)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			breast(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(2)	9		Ovarian(999;0.0014)	Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|all cancers(41;0.00708)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)	BRCA - Breast invasive adenocarcinoma(397;0.0026)		GGATATATTGGGCACCCCGGC	0.557																																						ENST00000388752.3																			0				breast(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(2)	9						c.(610-612)gcC>gcT		mitochondrial ribosomal protein L2							46	41	43					6																	43023654		2203	4300	6503	SO:0001819	synonymous_variant	51069				translation	mitochondrion|ribosome	structural constituent of ribosome	g.chr6:43023654G>A	AB051617	CCDS34454.1, CCDS75458.1	6p21.3	2012-09-13			ENSG00000112651	ENSG00000112651		"Mitochondrial ribosomal proteins / large subunits"	14056	protein-coding gene	gene with protein product		611822					Standard	XM_005249161		Approved	MRP-L14, RPML14, CGI-22	uc003ots.1	Q5T653	OTTHUMG00000014719	ENST00000388752.3:c.612C>T	6.37:g.43023654G>A						MRPL2_ENST00000230413.5_Silent_p.A204A|MRPL2_ENST00000489623.1_Intron	p.A204A	NM_015950.3	NP_057034.2	Q5T653	RM02_HUMAN	Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|all cancers(41;0.00708)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)	BRCA - Breast invasive adenocarcinoma(397;0.0026)	5	1036	-		Ovarian(999;0.0014)	204					B2RC56|Q8WUL1|Q96Q56|Q9Y311	Silent	SNP	ENST00000388752.3	37	c.612C>T	CCDS34454.1																																																																																				0.557	MRPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040577.2			5	50	0	0	0	1	0	5	50					A	43023654	G	A	43023654	2	1	141	1	0	0	0	0	0	0	0	1	9785	1219	43	3		3	MRPL2	6	43023654	Silent	SNP	G	TCGA-FC-7708-01A-11D-2114-08	8285533	43023654	128091413	23	7043											
EPHA7	2045	broad.mit.edu	37	chr6	94120325	94120325	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcatcctgggggcgttttcCgcttcttcctctgcactgct	2	15	10	14	2	2	0	0	0	2	0	5	0	5	0	3	2	3	5	3	2	0	4	rs148725762		TCGA-FC-7708-01A-11D-2114-08	TCGA-FC-7708-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c977d3c1-60f0-4987-b74d-d523a17f3784	00d07ccd-92c1-4e36-9ccc-4dae23baa878	g.chr6:94120325C>T	ENST00000369303.4	-	3	910	c.726G>A	c.(724-726)gcG>gcA	p.A242A	EPHA7_ENST00000369297.1_Silent_p.A242A	NM_004440.3	NP_004431.1	Q15375	EPHA7_HUMAN	EPH receptor A7	242	Cys-rich.				brain development (GO:0007420)|branching morphogenesis of a nerve (GO:0048755)|ephrin receptor signaling pathway (GO:0048013)|negative chemotaxis (GO:0050919)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of neuron apoptotic process (GO:0043525)|regulation of cell-cell adhesion (GO:0022407)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|regulation of protein autophosphorylation (GO:0031952)|retinal ganglion cell axon guidance (GO:0031290)	dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|chemorepellent activity (GO:0045499)|GPI-linked ephrin receptor activity (GO:0005004)|protein tyrosine kinase activity (GO:0004713)			NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)		BRCA - Breast invasive adenocarcinoma(108;0.0847)		GGGCGTTTTCCGCTTCTTCCT	0.473																																						ENST00000369303.4																			0				NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112						c.(724-726)gcG>gcA		EPH receptor A7		C		0,4406		0,0,2203	91	90	90		726	-4.1	1	6	dbSNP_134	90	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	EPHA7	NM_004440.3		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		242/999	94120325	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	2045					integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr6:94120325C>T	L36642	CCDS5031.1, CCDS75494.1	6q16.3	2013-02-11	2004-10-28		ENSG00000135333	ENSG00000135333		"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3390	protein-coding gene	gene with protein product		602190	"EphA7"			9267020	Standard	NM_004440		Approved	Hek11	uc003poe.3	Q15375	OTTHUMG00000015228	ENST00000369303.4:c.726G>A	6.37:g.94120325C>T						EPHA7_ENST00000369297.1_Silent_p.A242A	p.A242A	NM_004440.3	NP_004431.1	Q15375	EPHA7_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0847)	3	910	-		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)	242			Cys-rich.		A0AUX7|B2R8W1|B7ZLJ9|B7ZLK0|Q59G40|Q5VTU0|Q8N368|Q9H124	Silent	SNP	ENST00000369303.4	37	c.726G>A	CCDS5031.1																																																																																				0.473	EPHA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041545.1			6	45	0	0	0	1	0	6	45					T	94120325	C	T	94120325	2	4	141	1	0	0	0	0	0	0	0	1	5172	639	23	2		2	EPHA7	6	94120325	Silent	SNP	C	TCGA-FC-7708-01A-11D-2114-08	51096671	94120325	76994742	24	7044											
CFTR	1080	broad.mit.edu	37	chr7	117243692	117243692	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgttttacatttacgtgggaGtagccgacactttgcttgct	7	16	10	8	2	0	0	0	0	0	0	0	2	0	1	1	1	5	4	1	1	3	7			TCGA-FC-7708-01A-11D-2114-08	TCGA-FC-7708-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c977d3c1-60f0-4987-b74d-d523a17f3784	00d07ccd-92c1-4e36-9ccc-4dae23baa878	g.chr7:117243692G>A	ENST00000003084.6	+	17	2896	c.2764G>A	c.(2764-2766)Gta>Ata	p.V922I	AC000111.6_ENST00000456270.1_RNA|CFTR_ENST00000454343.1_Missense_Mutation_p.V861I	NM_000492.3	NP_000483.3	P13569	CFTR_HUMAN	cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)	922	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.				cellular response to cAMP (GO:0071320)|cellular response to hormone stimulus (GO:0032870)|chloride transmembrane transport (GO:1902476)|cholesterol biosynthetic process (GO:0006695)|cholesterol transport (GO:0030301)|intracellular pH elevation (GO:0051454)|iodide transport (GO:0015705)|lung development (GO:0030324)|membrane hyperpolarization (GO:0060081)|positive regulation of vasodilation (GO:0045909)|positive regulation of voltage-gated chloride channel activity (GO:1902943)|respiratory gaseous exchange (GO:0007585)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to peptide hormone (GO:0043434)|sperm capacitation (GO:0048240)|transepithelial chloride transport (GO:0030321)|transmembrane transport (GO:0055085)|transport (GO:0006810)|vasodilation (GO:0042311)|water transport (GO:0006833)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|chloride channel complex (GO:0034707)|cytoplasmic vesicle membrane (GO:0030659)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|microvillus (GO:0005902)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	ATP binding (GO:0005524)|ATP-binding and phosphorylation-dependent chloride channel activity (GO:0005224)|bicarbonate transmembrane transporter activity (GO:0015106)|channel-conductance-controlling ATPase activity (GO:0005260)|chloride channel activity (GO:0005254)|chloride channel inhibitor activity (GO:0019869)|chloride transmembrane transporter activity (GO:0015108)|enzyme binding (GO:0019899)|PDZ domain binding (GO:0030165)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Crofelemer(DB04941)|Glyburide(DB01016)|Ibuprofen(DB01050)|Ivacaftor(DB08820)	TTACGTGGGAGTAGCCGACAC	0.393									Cystic Fibrosis																													ENST00000003084.6																			0				NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69	GRCh37	CI972572	CFTR	I		c.(2764-2766)Gta>Ata		cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)	Bumetanide(DB00887)|Glibenclamide(DB01016)						213	183	194					7																	117243692		2203	4300	6503	SO:0001583	missense	1080	Cystic Fibrosis	Familial Cancer Database	CF	respiratory gaseous exchange	apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane	ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding|PDZ domain binding	g.chr7:117243692G>A	M28668	CCDS5773.1	7q31-q32	2014-09-17	2006-09-18		ENSG00000001626	ENSG00000001626		"Ion channels / Chloride channels : Cystic fibrosis transmembrane conductance regulators", "ATP binding cassette transporters / subfamily C"	1884	protein-coding gene	gene with protein product	"ATP-binding cassette sub-family C, member 7"	602421	"cystic fibrosis transmembrane conductance regulator, ATP-binding cassette (sub-family C, member 7)"	CF, ABCC7		2772657	Standard	XM_006715842		Approved	MRP7, ABC35, TNR-CFTR, dJ760C5.1, CFTR/MRP	uc003vjd.3	P13569	OTTHUMG00000023076	ENST00000003084.6:c.2764G>A	7.37:g.117243692G>A	ENSP00000003084:p.Val922Ile					CFTR_ENST00000454343.1_Missense_Mutation_p.V861I	p.V922I	NM_000492.3	NP_000483.3	P13569	CFTR_HUMAN	STAD - Stomach adenocarcinoma(10;0.000534)		17	2896	+	Lung NSC(10;0.00148)|all_lung(10;0.00171)		922			ABC transmembrane type-1 2.		Q20BG8|Q20BH2|Q2I0A1|Q2I102	Missense_Mutation	SNP	ENST00000003084.6	37	c.2764G>A	CCDS5773.1	.	.	.	.	.	.	.	.	.	.	G	12.25	1.881113	0.33255	.	.	ENSG00000001626	ENST00000003084;ENST00000454343;ENST00000426809	D;D;D	0.94232	-3.38;-3.38;-3.38	5.64	3.84	0.44239	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.415672	0.29106	N	0.013140	D	0.82829	0.5122	N	0.10733	0.035	0.31616	N	0.650951	B	0.02656	0.0	B	0.12837	0.008	T	0.72603	-0.4243	10	0.08179	T	0.78	-12.32	11.4187	0.49967	0.2028:0.0:0.7972:0.0	.	922	P13569	CFTR_HUMAN	I	922;861;892	ENSP00000003084:V922I;ENSP00000403677:V861I;ENSP00000389119:V892I	ENSP00000003084:V922I	V	+	1	0	CFTR	117030928	1.000000	0.71417	0.996000	0.52242	0.940000	0.58332	1.517000	0.35867	0.746000	0.32786	0.585000	0.79938	GTA		0.393	CFTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059397.3	NM_000492		3	109	0	0	0	1	0	3	109					A	117243692	G	A	117243692	3	1	141	1	0	0	0	0	1	0	0	0	3294	1029	36	3	2830	3	CFTR	7	117243692	Missense_Mutation	SNP	G	TCGA-FC-7708-01A-11D-2114-08		117243692	41894971	25	7045											
CHD7	55636	broad.mit.edu	37	chr8	61777895	61777895	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gctgctgtgctgcccctgatGctgccaggaatggcgggcct	4	9	15	13	1	0	1	0	1	0	0	0	2	0	2	4	3	5	4	4	3	1	0			TCGA-FC-7708-01A-11D-2114-08	TCGA-FC-7708-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c977d3c1-60f0-4987-b74d-d523a17f3784	00d07ccd-92c1-4e36-9ccc-4dae23baa878	g.chr8:61777895G>A	ENST00000423902.2	+	38	8876	c.8397G>A	c.(8395-8397)atG>atA	p.M2799I	CHD7_ENST00000524602.1_Missense_Mutation_p.M750I	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	2799					adult heart development (GO:0007512)|adult walking behavior (GO:0007628)|artery morphogenesis (GO:0048844)|blood circulation (GO:0008015)|central nervous system development (GO:0007417)|chromatin modification (GO:0016568)|cognition (GO:0050890)|cranial nerve development (GO:0021545)|embryonic hindlimb morphogenesis (GO:0035116)|epithelium development (GO:0060429)|face development (GO:0060324)|female genitalia development (GO:0030540)|genitalia development (GO:0048806)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|inner ear morphogenesis (GO:0042472)|limb development (GO:0060173)|nose development (GO:0043584)|olfactory behavior (GO:0042048)|olfactory bulb development (GO:0021772)|olfactory nerve development (GO:0021553)|palate development (GO:0060021)|positive regulation of multicellular organism growth (GO:0040018)|regulation of growth hormone secretion (GO:0060123)|regulation of neurogenesis (GO:0050767)|regulation of transcription, DNA-templated (GO:0006355)|retina development in camera-type eye (GO:0060041)|rRNA processing (GO:0006364)|semicircular canal morphogenesis (GO:0048752)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|T cell differentiation (GO:0030217)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			TGCCCCTGATGCTGCCAGGAA	0.622																																						ENST00000423902.2																			0				NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123						c.(8395-8397)atG>atA		chromodomain helicase DNA binding protein 7							27	28	28					8																	61777895		2022	4189	6211	SO:0001583	missense	55636				central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent	nucleus	ATP binding|chromatin binding|DNA binding|helicase activity	g.chr8:61777895G>A	AB037837	CCDS47865.1	8q12.2	2014-09-17				ENSG00000171316			20626	protein-coding gene	gene with protein product		608892	"CHARGE association"	CRG		15300250, 18834967	Standard	NM_017780		Approved	KIAA1416, FLJ20357, FLJ20361	uc003xue.3	Q9P2D1		ENST00000423902.2:c.8397G>A	8.37:g.61777895G>A	ENSP00000392028:p.Met2799Ile					CHD7_ENST00000524602.1_Missense_Mutation_p.M750I	p.M2799I	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.143)		38	8876	+		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	2799					D0VBA5|E9PNZ2|Q05DI5|Q2TAN4|Q66K35|Q7Z6C0|Q7Z7Q2|Q9NXA0|Q9NXA3	Missense_Mutation	SNP	ENST00000423902.2	37	c.8397G>A	CCDS47865.1	.	.	.	.	.	.	.	.	.	.	G	19.42	3.823468	0.71143	.	.	ENSG00000171316	ENST00000307121;ENST00000423902;ENST00000524602	D;T	0.82711	-1.64;1.93	5.14	5.14	0.70334	.	0.112500	0.64402	D	0.000018	T	0.81964	0.4934	L	0.61218	1.895	0.80722	D	1	B	0.06786	0.001	B	0.09377	0.004	T	0.77566	-0.2540	10	0.36615	T	0.2	-7.9773	18.5845	0.91183	0.0:0.0:1.0:0.0	.	2799	Q9P2D1	CHD7_HUMAN	I	2799;2799;750	ENSP00000392028:M2799I;ENSP00000437061:M750I	ENSP00000307304:M2799I	M	+	3	0	CHD7	61940449	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.205000	0.95048	2.373000	0.80994	0.591000	0.81541	ATG		0.622	CHD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383468.2	XM_098762		3	14	0	0	0	1	0	3	14					A	61777895	G	A	61777895	3	1	141	1	0	0	0	0	1	0	0	0	3330	1319	46	3	8543	3	CHD7	8	61777895	Missense_Mutation	SNP	G	TCGA-FC-7708-01A-11D-2114-08		61777895	84586127	26	7046											
SNX31	169166	broad.mit.edu	37	chr8	101612649	101612649	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgtgtgggtttggcccatccTttttcaatgtcctgtattgc	4	18	10	9	0	1	0	1	0	0	0	3	0	3	0	3	2	1	2	3	2	2	5			TCGA-FC-7708-01A-11D-2114-08	TCGA-FC-7708-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c977d3c1-60f0-4987-b74d-d523a17f3784	00d07ccd-92c1-4e36-9ccc-4dae23baa878	g.chr8:101612649T>C	ENST00000311812.2	-	9	852	c.702A>G	c.(700-702)aaA>aaG	p.K234K	SNX31_ENST00000428383.2_Silent_p.K135K	NM_152628.3	NP_689841.3	Q8N9S9	SNX31_HUMAN	sorting nexin 31	234					protein transport (GO:0015031)	protein complex (GO:0043234)	phosphatidylinositol binding (GO:0035091)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|prostate(1)|skin(3)|urinary_tract(1)	26	all_cancers(14;4.01e-05)|all_epithelial(15;1.26e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125)		Epithelial(11;1.21e-11)|all cancers(13;2.62e-09)|OV - Ovarian serous cystadenocarcinoma(57;3.22e-06)|STAD - Stomach adenocarcinoma(118;0.206)			TGGCCCATCCTTTTTCAATGT	0.358																																						ENST00000311812.2																			0				NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|prostate(1)|skin(3)|urinary_tract(1)	26						c.(700-702)aaA>aaG		sorting nexin 31							199	185	189					8																	101612649		2203	4300	6503	SO:0001819	synonymous_variant	169166				cell communication|protein transport		phosphatidylinositol binding	g.chr8:101612649T>C		CCDS6288.1	8q22.3	2011-05-03			ENSG00000174226	ENSG00000174226		"Sorting nexins"	28605	protein-coding gene	gene with protein product						16782399	Standard	NM_152628		Approved	MGC39715	uc003yjr.3	Q8N9S9	OTTHUMG00000164725	ENST00000311812.2:c.702A>G	8.37:g.101612649T>C						SNX31_ENST00000428383.2_Silent_p.K135K	p.K234K	NM_152628.3	NP_689841.3	Q8N9S9	SNX31_HUMAN	Epithelial(11;1.21e-11)|all cancers(13;2.62e-09)|OV - Ovarian serous cystadenocarcinoma(57;3.22e-06)|STAD - Stomach adenocarcinoma(118;0.206)		9	852	-	all_cancers(14;4.01e-05)|all_epithelial(15;1.26e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125)		234					C9J6L9|Q8N0U9	Silent	SNP	ENST00000311812.2	37	c.702A>G	CCDS6288.1																																																																																				0.358	SNX31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379910.1	NM_152628		3	129	0	0	0	1	0	3	129					C	101612649	T	C	101612649	2	2	141	1	0	0	0	0	0	0	0	1	14901	1606	56	4		4	SNX31	8	101612649	Silent	SNP	T	TCGA-FC-7708-01A-11D-2114-08	39834754	101612649	44751373	27	7047											
FAM122A	116224	broad.mit.edu	37	chr9	71395167	71395167	+	Silent	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcggtggcagcggcggcggCgggggcctcaggaggtctaa	5	4	22	10	5	2	0	1	0	1	0	2	1	2	1	1	10	1	1	1	10	1	1			TCGA-FC-7708-01A-11D-2114-08	TCGA-FC-7708-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c977d3c1-60f0-4987-b74d-d523a17f3784	00d07ccd-92c1-4e36-9ccc-4dae23baa878	g.chr9:71395167C>G	ENST00000394264.3	+	1	204	c.87C>G	c.(85-87)ggC>ggG	p.G29G	PIP5K1B_ENST00000541509.1_Intron|PIP5K1B_ENST00000265382.3_Intron	NM_138333.3	NP_612206.3	Q96E09	F122A_HUMAN	family with sequence similarity 122A	29	Poly-Gly.									endometrium(1)|lung(2)	3						GCGGCGGCGGCGGGGGCCTCA	0.721																																						ENST00000394264.3																			0				endometrium(1)|lung(2)	3						c.(85-87)ggC>ggG		family with sequence similarity 122A							6	9	8					9																	71395167		1947	3946	5893	SO:0001819	synonymous_variant	116224							g.chr9:71395167C>G	AK126379	CCDS6623.1	9q21.13	2011-02-10	2006-07-11	2006-07-11	ENSG00000187866	ENSG00000187866			23490	protein-coding gene	gene with protein product			"chromosome 9 open reading frame 42"	C9orf42		12477932	Standard	NM_138333		Approved	MGC17347	uc004agw.1	Q96E09	OTTHUMG00000019971	ENST00000394264.3:c.87C>G	9.37:g.71395167C>G						PIP5K1B_ENST00000265382.3_Intron|PIP5K1B_ENST00000541509.1_Intron	p.G29G	NM_138333.3	NP_612206.3	Q96E09	F122A_HUMAN			1	204	+			29			Poly-Gly.			Silent	SNP	ENST00000394264.3	37	c.87C>G	CCDS6623.1																																																																																				0.721	FAM122A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052556.1	NM_138333		2	11	0	0	0	1	0	2	11					G	71395167	C	G	71395167	2	3	141	1	0	0	0	0	0	0	0	1	5419	755	27	5		5	FAM122A	9	71395167	Silent	SNP	C	TCGA-FC-7708-01A-11D-2114-08		71395167	69818264	28	7048											
CDH23	5660	broad.mit.edu	37	chr10	73574941	73574941	+	IGR	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgccgaggccactgccttcgAgcgcaacgcccgcacagaat	9	5	11	16	5	0	1	0	0	0	1	1	3	0	1	4	1	4	2	4	1	2	1			TCGA-FC-7708-01A-11D-2114-08	TCGA-FC-7708-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c977d3c1-60f0-4987-b74d-d523a17f3784	00d07ccd-92c1-4e36-9ccc-4dae23baa878	g.chr10:73574941A>C	ENST00000394936.3	-	0	2866				CDH23_ENST00000398788.3_Missense_Mutation_p.E1084A|CDH23_ENST00000224721.6_Missense_Mutation_p.E3329A|CDH23_ENST00000475158.1_3'UTR			P07602	SAP_HUMAN	prosaposin						blood coagulation (GO:0007596)|cellular response to organic substance (GO:0071310)|epithelial cell differentiation involved in prostate gland development (GO:0060742)|glycosphingolipid metabolic process (GO:0006687)|lipid transport (GO:0006869)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of catalytic activity (GO:0043085)|prostate gland growth (GO:0060736)|regulation of lipid metabolic process (GO:0019216)|regulation of MAPK cascade (GO:0043408)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal lumen (GO:0043202)|lysosomal membrane (GO:0005765)|mitochondrion (GO:0005739)	enzyme activator activity (GO:0008047)|lipid binding (GO:0008289)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	13						ACTGCCTTCGAGCGCAACGCC	0.642																																						ENST00000224721.6																			0				NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						c.(9985-9987)gAg>gCg		cadherin-related 23							20	27	25					10																	73574941		2162	4248	6410	SO:0001628	intergenic_variant	64072				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding	g.chr10:73574941A>C	BC004275	CCDS7311.1	10q21-q22	2014-01-30	2008-07-31		ENSG00000197746	ENSG00000197746		"Endogenous ligands"	9498	protein-coding gene	gene with protein product	"variant Gaucher disease and variant metachromatic leukodystrophy"	176801	"sphingolipid activator protein-1"	SAP1, GLBA		2717620	Standard	NM_001042465		Approved		uc001jsm.3	P07602	OTTHUMG00000018429		10.37:g.73574941A>C						CDH23_ENST00000398788.3_Missense_Mutation_p.E1084A|CDH23_ENST00000475158.1_3'UTR	p.E3329A	NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN			69	9991	+			3324					P07292|P15793|P78538|P78541|P78546|P78547|P78558|Q53Y86|Q6IBQ6|Q92739|Q92740|Q92741|Q92742	Missense_Mutation	SNP	ENST00000394936.3	37	c.9986A>C	CCDS7311.1	.	.	.	.	.	.	.	.	.	.	A	19.03	3.748419	0.69533	.	.	ENSG00000107736	ENST00000398860;ENST00000398855;ENST00000224721;ENST00000398788	T	0.80304	-1.36	5.14	5.14	0.70334	.	0.065602	0.64402	D	0.000012	D	0.83862	0.5346	L	0.29908	0.895	0.52099	D	0.999947	B;D;P;P	0.61697	0.323;0.99;0.792;0.792	B;D;B;B	0.72982	0.073;0.979;0.257;0.257	D	0.86036	0.1516	10	0.72032	D	0.01	.	14.9831	0.71327	1.0:0.0:0.0:0.0	.	186;221;3289;3324	Q5QGS5;Q5QGS6;E9PEX1;Q9H251	.;.;.;CAD23_HUMAN	A	3329;3289;3327;1084	ENSP00000381768:E1084A	ENSP00000224721:E3329A	E	+	2	0	CDH23	73244947	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	8.580000	0.90784	1.954000	0.56735	0.533000	0.62120	GAG		0.642	PSAP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000048553.1	NM_002778		4	16	0	0	0	1	0	4	16					C	73574941	A	C	73574941	1	2	141	0	1	0	0	0	0	0	0	0	3108	304	11	5		5	CDH23	10	73574941	IGR	SNP	A	TCGA-FC-7708-01A-11D-2114-08		73574941	61959806	29	7049											
KRT85	3891	broad.mit.edu	37	chr12	52756045	52756045	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttagccccacctgtgttcctCgccctccagcaggcgcctgt	4	10	9	18	2	0	0	0	0	0	0	3	0	2	0	7	1	2	2	7	1	1	2	rs529091727		TCGA-FC-7708-01A-11D-2114-08	TCGA-FC-7708-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c977d3c1-60f0-4987-b74d-d523a17f3784	00d07ccd-92c1-4e36-9ccc-4dae23baa878	g.chr12:52756045C>T	ENST00000257901.3	-	7	1363	c.1288G>A	c.(1288-1290)Gag>Aag	p.E430K	KRT85_ENST00000544265.1_Missense_Mutation_p.E218K	NM_002283.3	NP_002274.1	P78386	KRT85_HUMAN	keratin 85	430	Coil 2.|Rod.				epidermis development (GO:0008544)	extracellular space (GO:0005615)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(7)|liver(1)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	36	Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088)			BRCA - Breast invasive adenocarcinoma(357;0.189)		CTGTGTTCCTCGCCCTCCAGC	0.582													C|||	1	0.000199681	0	0	5008	,	,		16892	0		0.001	False		,,,				2504	0					ENST00000257901.3																			0				NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(7)|liver(1)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	36						c.(1288-1290)Gag>Aag		keratin 85							63	67	66					12																	52756045		2203	4300	6503	SO:0001583	missense	3891				epidermis development	keratin filament	protein binding|structural molecule activity	g.chr12:52756045C>T	X99140	CCDS8824.1, CCDS73472.1	12q13.13	2013-06-20	2006-07-17	2006-07-17	ENSG00000135443	ENSG00000135443		"-", "Intermediate filaments type II, keratins (basic)"	6462	protein-coding gene	gene with protein product	"hard keratin type II"	602767	"keratin, hair, basic, 5"	KRTHB5		9084137, 16831889	Standard	NM_002283		Approved	Hb-5	uc001sag.3	P78386	OTTHUMG00000169633	ENST00000257901.3:c.1288G>A	12.37:g.52756045C>T	ENSP00000257901:p.Glu430Lys					KRT85_ENST00000544265.1_Missense_Mutation_p.E218K	p.E430K	NM_002283.3	NP_002274.1	P78386	KRT85_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.189)	7	1363	-	Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088)		430			Coil 2.|Rod.		Q9NSB1	Missense_Mutation	SNP	ENST00000257901.3	37	c.1288G>A	CCDS8824.1	.	.	.	.	.	.	.	.	.	.	C	36	5.664649	0.96745	.	.	ENSG00000135443	ENST00000257901;ENST00000544265	D;D	0.93366	-3.21;-3.21	5.06	5.06	0.68205	Filament (1);	0.265160	0.28425	N	0.015397	D	0.97139	0.9065	M	0.88979	2.995	0.46798	D	0.999207	D	0.76494	0.999	D	0.69142	0.962	D	0.97976	1.0346	10	0.87932	D	0	.	18.434	0.90638	0.0:1.0:0.0:0.0	.	430	P78386	KRT85_HUMAN	K	430;218	ENSP00000257901:E430K;ENSP00000440240:E218K	ENSP00000257901:E430K	E	-	1	0	KRT85	51042312	1.000000	0.71417	1.000000	0.80357	0.931000	0.56810	6.090000	0.71397	2.363000	0.80096	0.561000	0.74099	GAG		0.582	KRT85-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405184.1	NM_002283		19	70	0	0	0	1	0	19	70					T	52756045	C	T	52756045	3	4	141	1	0	0	0	0	1	0	0	0	8499	893	31	2	247	2	KRT85	12	52756045	Missense_Mutation	SNP	C	TCGA-FC-7708-01A-11D-2114-08		52756045	81095850	30	7050											
DTX3	196403	broad.mit.edu	37	chr12	58002362	58002362	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acacgggtggcctacctcccGgactgccctgagggcaacaa	9	5	12	15	2	0	1	0	1	0	0	1	2	1	2	4	4	3	1	4	4	3	1	rs368303983	byFrequency	TCGA-FC-7708-01A-11D-2114-08	TCGA-FC-7708-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c977d3c1-60f0-4987-b74d-d523a17f3784	00d07ccd-92c1-4e36-9ccc-4dae23baa878	g.chr12:58002362G>A	ENST00000548198.1	+	4	2314	c.810G>A	c.(808-810)ccG>ccA	p.P270P	DTX3_ENST00000548804.1_Silent_p.P270P|DTX3_ENST00000337737.3_Silent_p.P270P|ARHGEF25_ENST00000286494.4_5'Flank|ARHGEF25_ENST00000333972.7_5'Flank|DTX3_ENST00000551632.1_Silent_p.P273P			Q8N9I9	DTX3_HUMAN	deltex 3, E3 ubiquitin ligase	270					Notch signaling pathway (GO:0007219)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(6)|urinary_tract(1)	12	Melanoma(17;0.122)					CCTACCTCCCGGACTGCCCTG	0.617													G|||	2	0.000399361	0	0	5008	,	,		21884	0		0	False		,,,				2504	0.002					ENST00000548198.1																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(6)|urinary_tract(1)	12						c.(808-810)ccG>ccA		deltex homolog 3 (Drosophila)		G		0,4206		0,0,2103	71	75	74		810	-4.2	1	12		74	2,8466		0,2,4232	no	coding-synonymous	DTX3	NM_178502.2		0,2,6335	AA,AG,GG		0.0236,0.0,0.0158		270/348	58002362	2,12672	2103	4234	6337	SO:0001819	synonymous_variant	196403				Notch signaling pathway	cytoplasm	zinc ion binding	g.chr12:58002362G>A	AK094385	CCDS41800.1, CCDS66410.1	12q13.2	2014-01-28	2014-01-28			ENSG00000178498		"RING-type (C3HC4) zinc fingers"	24457	protein-coding gene	gene with protein product		613142	"deltex 3 homolog (Drosophila)", "deltex homolog 3 (Drosophila)"			12670957	Standard	XM_005268697		Approved	FLJ34766, RNF154	uc001sow.1	Q8N9I9		ENST00000548198.1:c.810G>A	12.37:g.58002362G>A						DTX3_ENST00000548804.1_Silent_p.P270P|DTX3_ENST00000551632.1_Silent_p.P273P|DTX3_ENST00000337737.3_Silent_p.P270P	p.P270P			Q8N9I9	DTX3_HUMAN			4	2314	+	Melanoma(17;0.122)		270					Q53ZZ2|Q8NAU6|Q8NDS8	Silent	SNP	ENST00000548198.1	37	c.810G>A	CCDS41800.1																																																																																				0.617	DTX3-003	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000407848.1	NM_178502		3	56	0	0	0	1	0	3	56					A	58002362	G	A	58002362	2	1	141	1	0	0	0	0	0	0	0	1	4795	1103	39	2		2	DTX3	12	58002362	Silent	SNP	G	TCGA-FC-7708-01A-11D-2114-08	5246317	58002362	75849533	31	7051											
NUP107	57122	broad.mit.edu	37	chr12	69085781	69085781	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atgacagtaactgggcagctGcattttcatcacagcgttcc	10	11	9	11	1	2	1	2	1	0	0	3	1	3	1	1	1	4	5	1	1	1	4			TCGA-FC-7708-01A-11D-2114-08	TCGA-FC-7708-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c977d3c1-60f0-4987-b74d-d523a17f3784	00d07ccd-92c1-4e36-9ccc-4dae23baa878	g.chr12:69085781G>T	ENST00000229179.4	+	5	669	c.337G>T	c.(337-339)Gca>Tca	p.A113S	NUP107_ENST00000539906.1_Missense_Mutation_p.A84S|NUP107_ENST00000378905.2_Intron	NM_020401.2	NP_065134.1	P57740	NU107_HUMAN	nucleoporin 107kDa	113					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA export from nucleus (GO:0006406)|nuclear pore complex assembly (GO:0051292)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	centrosome (GO:0005813)|cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)|nuclear pore outer ring (GO:0031080)|nucleus (GO:0005634)	nucleocytoplasmic transporter activity (GO:0005487)|structural constituent of nuclear pore (GO:0017056)		NUP107/LGR5(2)	breast(3)|endometrium(4)|kidney(4)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(2)	39	Breast(13;6.25e-06)		Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00694)			CTGGGCAGCTGCATTTTCATC	0.393																																						ENST00000229179.4																		NUP107/LGR5(2)	0				breast(3)|endometrium(4)|kidney(4)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(2)	39						c.(337-339)Gca>Tca		nucleoporin 107kDa							83	75	78					12																	69085781		2203	4300	6503	SO:0001583	missense	57122				carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex	nucleocytoplasmic transporter activity|protein binding	g.chr12:69085781G>T	AK055629	CCDS8985.1	12q14	2004-03-19			ENSG00000111581	ENSG00000111581			29914	protein-coding gene	gene with protein product		607617				12552102, 12705868	Standard	XM_005269037		Approved	NUP84	uc001suf.3	P57740	OTTHUMG00000169265	ENST00000229179.4:c.337G>T	12.37:g.69085781G>T	ENSP00000229179:p.Ala113Ser					NUP107_ENST00000539906.1_Missense_Mutation_p.A84S|NUP107_ENST00000378905.2_Intron	p.A113S	NM_020401.2	NP_065134.1	P57740	NU107_HUMAN	Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00694)		5	669	+	Breast(13;6.25e-06)		113					B4DZ67|Q6PJE1	Missense_Mutation	SNP	ENST00000229179.4	37	c.337G>T	CCDS8985.1	.	.	.	.	.	.	.	.	.	.	G	11.37	1.619921	0.28801	.	.	ENSG00000111581	ENST00000229179;ENST00000539906;ENST00000538549	.	.	.	5.5	5.5	0.81552	.	0.205029	0.49916	D	0.000128	T	0.45776	0.1359	L	0.36672	1.1	0.80722	D	1	B;B	0.14012	0.009;0.009	B;B	0.11329	0.006;0.006	T	0.30327	-0.9982	8	.	.	.	-12.6252	11.9696	0.53055	0.0807:0.0:0.9193:0.0	.	84;113	B4DZ67;P57740	.;NU107_HUMAN	S	113;84;13	.	.	A	+	1	0	NUP107	67372048	0.985000	0.35326	1.000000	0.80357	0.934000	0.57294	2.179000	0.42528	2.756000	0.94617	0.563000	0.77884	GCA		0.393	NUP107-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403195.1	NM_020401		6	42	1	0	0.00198382	1	0.00219486	6	42					T	69085781	G	T	69085781	3	4	141	1	0	0	0	0	1	0	0	0	10753	1319	46	5	355	5	NUP107	12	69085781	Missense_Mutation	SNP	G	TCGA-FC-7708-01A-11D-2114-08	11083419	69085781	64766114	32	7052											
C12orf51	283450	broad.mit.edu	37	chr12	112673539	112673539	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtcaagcagcagggagaggaGtttggacacacaagctggct	12	6	15	8	0	1	1	1	0	0	1	1	4	1	3	0	4	3	5	0	4	2	1			TCGA-FC-7708-01A-11D-2114-08	TCGA-FC-7708-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c977d3c1-60f0-4987-b74d-d523a17f3784	00d07ccd-92c1-4e36-9ccc-4dae23baa878	g.chr12:112673539G>A	ENST00000430131.2	-	35	5373	c.4228C>T	c.(4228-4230)Ctc>Ttc	p.L1410F	HECTD4_ENST00000550722.1_Missense_Mutation_p.L1686F|HECTD4_ENST00000377560.5_Missense_Mutation_p.L1660F			Q9Y4D8	HECD4_HUMAN	HECT domain containing E3 ubiquitin protein ligase 4	1410					glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)										AGGGAGAGGAGTTTGGACACA	0.522																																						ENST00000550722.1																			0											c.(5056-5058)Ctc>Ttc		HECT domain containing E3 ubiquitin protein ligase 4							34	35	35					12																	112673539		2026	4191	6217	SO:0001583	missense	283450							g.chr12:112673539G>A	AK091473		12q24.13	2013-07-17	2012-08-14	2012-08-14	ENSG00000173064	ENSG00000173064			26611	protein-coding gene	gene with protein product			"chromosome 12 open reading frame 51"	C12orf51		21270382	Standard	NM_001109662		Approved	FLJ34154, KIAA0614	uc021reb.1	Q9Y4D8	OTTHUMG00000150719	ENST00000430131.2:c.4228C>T	12.37:g.112673539G>A	ENSP00000404379:p.Leu1410Phe					HECTD4_ENST00000430131.2_Missense_Mutation_p.L1410F|HECTD4_ENST00000377560.5_Missense_Mutation_p.L1660F	p.L1686F	NM_001109662.3	NP_001103132.3					36	5451	-								L8B0P6|Q3MJD5|Q6P0A0|Q7L530|Q8NB70|Q8WU73|Q96NT9|Q9NZS4|Q9UFT6	Missense_Mutation	SNP	ENST00000430131.2	37	c.5056C>T		.	.	.	.	.	.	.	.	.	.	G	36	5.705855	0.96812	.	.	ENSG00000173064	ENST00000377560;ENST00000430131;ENST00000550722	T;T;T	0.67171	-0.25;-0.23;-0.25	6.03	6.03	0.97812	.	.	.	.	.	T	0.75012	0.3792	L	0.27053	0.805	0.80722	D	1	D	0.65815	0.995	D	0.72982	0.979	T	0.76629	-0.2889	9	0.87932	D	0	.	20.5666	0.99351	0.0:0.0:1.0:0.0	.	1410	Q9Y4D8	K0614_HUMAN	F	1660;1410;1686	ENSP00000366783:L1660F;ENSP00000404379:L1410F;ENSP00000449784:L1686F	ENSP00000366783:L1660F	L	-	1	0	C12orf51	111157922	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.363000	0.97131	2.854000	0.98071	0.655000	0.94253	CTC		0.522	HECTD4-202	KNOWN	basic	protein_coding	protein_coding		NM_173813		4	20	0	0	0	1	0	4	20					A	112673539	G	A	112673539	3	1	141	1	0	0	0	0	1	0	0	0	1696	1029	36	3	7926	3	C12orf51	12	112673539	Missense_Mutation	SNP	G	TCGA-FC-7708-01A-11D-2114-08	43587758	112673539	21178356	33	7053											
C13orf18	80183	broad.mit.edu	37	chr13	46918950	46918950	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ggcaaaattcacaaataaagCcctttccttgacacagctgt	14	10	6	11	0	1	1	1	1	0	0	2	1	2	1	2	1	2	2	2	1	5	4	rs530267659	byFrequency	TCGA-FC-7708-01A-11D-2114-08	TCGA-FC-7708-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c977d3c1-60f0-4987-b74d-d523a17f3784	00d07ccd-92c1-4e36-9ccc-4dae23baa878	g.chr13:46918950C>A	ENST00000429979.1	-	14	2406	c.1802G>T	c.(1801-1803)gGc>gTc	p.G601V	KIAA0226L_ENST00000322896.6_Missense_Mutation_p.G444V|KIAA0226L_ENST00000409879.2_Missense_Mutation_p.G444V|KIAA0226L_ENST00000378787.3_Missense_Mutation_p.A550S|KIAA0226L_ENST00000389908.3_Missense_Mutation_p.G601V|KIAA0226L_ENST00000378784.4_Missense_Mutation_p.G534V|KIAA0226L_ENST00000378781.3_3'UTR|KIAA0226L_ENST00000534925.1_Missense_Mutation_p.G466V|KIAA0226L_ENST00000378797.2_Missense_Mutation_p.A550S	NM_025113.2	NP_079389.2	Q9H714	K226L_HUMAN	KIAA0226-like	601										NS(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(7)|pancreas(1)	26						ACAAATAAAGCCCTTTCCTTG	0.338													C|||	2	0.000399361	0	0	5008	,	,		19741	0		0	False		,,,				2504	0.002					ENST00000429979.1																			0				NS(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(7)|pancreas(1)	26						c.(1801-1803)gGc>gTc		KIAA0226-like							81	72	75					13																	46918950		2203	4300	6503	SO:0001583	missense	80183							g.chr13:46918950C>A	AK025215	CCDS31970.2, CCDS66543.1, CCDS66544.1, CCDS66545.1, CCDS73569.1	13q14.11	2011-08-09	2011-08-09	2011-08-09	ENSG00000102445	ENSG00000102445			20420	protein-coding gene	gene with protein product			"chromosome 13 open reading frame 18"	C13orf18			Standard	NM_001286766		Approved	FLJ21562	uc010acl.3	Q9H714	OTTHUMG00000016868	ENST00000429979.1:c.1802G>T	13.37:g.46918950C>A	ENSP00000396935:p.Gly601Val					KIAA0226L_ENST00000409879.2_Missense_Mutation_p.G444V|KIAA0226L_ENST00000378797.2_Missense_Mutation_p.A550S|KIAA0226L_ENST00000378781.3_3'UTR|KIAA0226L_ENST00000389908.3_Missense_Mutation_p.G601V|KIAA0226L_ENST00000378787.3_Missense_Mutation_p.A550S|KIAA0226L_ENST00000534925.1_Missense_Mutation_p.G466V|KIAA0226L_ENST00000378784.4_Missense_Mutation_p.G534V|KIAA0226L_ENST00000322896.6_Missense_Mutation_p.G444V	p.G601V	NM_025113.2	NP_079389.2	Q9H714	CM018_HUMAN			14	2406	-			601					A8KAG9|A8XR19|B3KS87|Q5W051|Q5W053|Q6PJ74|Q6PK94|Q86XH7|Q8N5J6	Missense_Mutation	SNP	ENST00000429979.1	37	c.1802G>T	CCDS31970.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	25.5|25.5	4.643059|4.643059	0.87859|0.87859	.|.	.|.	ENSG00000102445|ENSG00000102445	ENST00000378797;ENST00000378787|ENST00000429979;ENST00000378784;ENST00000389908;ENST00000409879;ENST00000322896;ENST00000534925	T;T|T;T;T;T	0.42131|0.69175	0.98;0.98|-0.38;-0.36;-0.38;-0.29	5.93|5.93	5.93|5.93	0.95920|0.95920	.|.	1.003200|.	0.08035|.	N|.	0.994137|.	D|D	0.86443|0.86443	0.5934|0.5934	M|M	0.91920|0.91920	3.255|3.255	0.80722|0.80722	D|D	1|1	D|D;D;D;D;D	0.61697|0.89917	0.99|1.0;1.0;1.0;1.0;1.0	P|D;D;D;D;D	0.55749|0.97110	0.783|1.0;1.0;0.999;0.999;0.999	D|D	0.88461|0.88461	0.3055|0.3055	10|9	0.14656|0.87932	T|D	0.56|0	-20.6098|-20.6098	19.3377|19.3377	0.94326|0.94326	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	550|444;444;601;466;534	Q9H714-4|B7ZBN5;B7Z6E4;Q9H714;A8KAG9;Q9H714-3	.|.;.;K226L_HUMAN;.;.	S|V	550|601;534;601;444;444;466	ENSP00000368074:A550S;ENSP00000368064:A550S|ENSP00000396935:G601V;ENSP00000368061:G534V;ENSP00000374558:G601V;ENSP00000437501:G466V	ENSP00000368064:A550S|ENSP00000315633:G444V	A|G	-|-	1|2	0|0	KIAA0226L|KIAA0226L	45816951|45816951	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	7.380000|7.380000	0.79704|0.79704	2.814000|2.814000	0.96858|0.96858	0.591000|0.591000	0.81541|0.81541	GCT|GGC		0.338	KIAA0226L-204	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044809.2	NM_025113		3	25	1	0	0.00909568	1	0.00965256	3	25					A	46918950	C	A	46918950	3	1	141	1	0	0	0	0	1	0	0	0	1720	739	26	5	194	5	C13orf18	13	46918950	Missense_Mutation	SNP	C	TCGA-FC-7708-01A-11D-2114-08		46918950	68250928	34	7054											
PCID2	55795	broad.mit.edu	37	chr13	113854766	113854766	+	Frame_Shift_Del	DEL	G	G	-																															gtcgtgggtttgcaacatgaGgatgtttaaaagacaccaac																										TCGA-FC-7708-01A-11D-2114-08	TCGA-FC-7708-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c977d3c1-60f0-4987-b74d-d523a17f3784	00d07ccd-92c1-4e36-9ccc-4dae23baa878	g.chr13:113854766delG	ENST00000337344.4	-	2	177	c.101delC	c.(100-102)cctfs	p.P34fs	PCID2_ENST00000375479.2_Frame_Shift_Del_p.P34fs|PCID2_ENST00000375477.1_Frame_Shift_Del_p.P34fs|PCID2_ENST00000375457.2_Frame_Shift_Del_p.P32fs|PCID2_ENST00000246505.5_Frame_Shift_Del_p.P34fs|PCID2_ENST00000375459.1_Frame_Shift_Del_p.P32fs	NM_001127202.2	NP_001120674.1	Q5JVF3	PCID2_HUMAN	PCI domain containing 2	34					negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity (GO:2000117)|positive regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090267)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of mRNA stability (GO:0043488)|spleen development (GO:0048536)					breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)	20	Lung NSC(43;0.0161)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_lung(25;0.216)|all_epithelial(44;0.234)	all cancers(43;0.104)			TGCAACATGAGGATGTTTAAA	0.443																																						ENST00000375457.2																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)	20						c.(94-96)ctfs		PCI domain containing 2							117	117	117					13																	113854766		2203	4300	6503	SO:0001589	frameshift_variant	55795				negative regulation of apoptosis|negative regulation of cysteine-type endopeptidase activity|positive regulation of mitotic cell cycle spindle assembly checkpoint|positive regulation of transcription, DNA-dependent|regulation of mRNA stability|spleen development		protein binding	g.chr13:113854766delG	AK002167	CCDS9532.2, CCDS58301.1, CCDS58302.1	13q34	2006-03-31			ENSG00000126226	ENSG00000126226			25653	protein-coding gene	gene with protein product		613713				12477932	Standard	NM_001127203		Approved	FLJ11305	uc031qnm.1	Q5JVF3	OTTHUMG00000017385	ENST00000337344.4:c.101delC	13.37:g.113854766delG	ENSP00000337405:p.Pro34fs					PCID2_ENST00000337344.4_Frame_Shift_Del_p.P34fs|PCID2_ENST00000246505.5_Frame_Shift_Del_p.P34fs|PCID2_ENST00000375479.2_Frame_Shift_Del_p.P34fs|PCID2_ENST00000351317.3_Frame_Shift_Del_p.P34fs|PCID2_ENST00000375477.1_Frame_Shift_Del_p.P34fs|PCID2_ENST00000375459.1_Frame_Shift_Del_p.P32fs	p.P32fs	NM_001258213.1	NP_001245142.1	Q5JVF3	PCID2_HUMAN	all cancers(43;0.104)		2	691	-	Lung NSC(43;0.0161)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_lung(25;0.216)|all_epithelial(44;0.234)	34					A6NK09|Q3ZCX1|Q5TC57|Q5TC58|Q9H7K1|Q9HBZ7|Q9NUK6|Q9NVY1|Q9NW44|Q9NWH3	Frame_Shift_Del	DEL	ENST00000337344.4	37	c.95delC	CCDS9532.2																																																																																				0.443	PCID2-002	KNOWN	alternative_3_UTR|non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045897.1	NM_018386		35	93						35	93	---	---	---	---	-	113854766	G	-	113854766	7	5	141	1	0	1	0	1	0	0	0	0	11579	1000	35	0	1150	0	PCID2	13	113854766	Frame_Shift_Del	DEL	G	TCGA-FC-7708-01A-11D-2114-08	66935816	113854766	1315112	35	7055											
SLC7A8	23428	broad.mit.edu	37	chr14	23652104	23652104	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttttcggtgttgtttcggTgcctggctccttcttccatc	1	19	9	12	2	2	0	0	0	2	0	7	0	4	0	3	3	1	3	3	3	0	6			TCGA-FC-7708-01A-11D-2114-08	TCGA-FC-7708-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c977d3c1-60f0-4987-b74d-d523a17f3784	00d07ccd-92c1-4e36-9ccc-4dae23baa878	g.chr14:23652104T>C	ENST00000316902.7	-	1	745	c.20A>G	c.(19-21)cAc>cGc	p.H7R	C14orf164_ENST00000399910.1_5'Flank|SLC7A8_ENST00000469263.1_Missense_Mutation_p.H7R	NM_012244.3	NP_036376.2	Q9UHI5	LAT2_HUMAN	solute carrier family 7 (amino acid transporter light chain, L system), member 8	7					amino acid transport (GO:0006865)|blood coagulation (GO:0007596)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|leukocyte migration (GO:0050900)|metal ion homeostasis (GO:0055065)|neutral amino acid transport (GO:0015804)|organic cation transport (GO:0015695)|response to toxic substance (GO:0009636)|toxin transport (GO:1901998)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	amino acid transmembrane transporter activity (GO:0015171)|L-amino acid transmembrane transporter activity (GO:0015179)|neutral amino acid transmembrane transporter activity (GO:0015175)|organic cation transmembrane transporter activity (GO:0015101)|peptide antigen binding (GO:0042605)|toxin transporter activity (GO:0019534)			autonomic_ganglia(1)|endometrium(6)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|skin(1)	24	all_cancers(95;4.6e-05)			GBM - Glioblastoma multiforme(265;0.00809)	L-Alanine(DB00160)|L-DOPA(DB01235)|L-Glutamine(DB00130)|L-Phenylalanine(DB00120)	GTTGTTTCGGTGCCTGGCTCC	0.537																																						ENST00000316902.7																			0				autonomic_ganglia(1)|endometrium(6)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|skin(1)	24						c.(19-21)cAc>cGc		solute carrier family 7 (amino acid transporter light chain, L system), member 8	L-Alanine(DB00160)|L-Glutamine(DB00130)|L-Phenylalanine(DB00120)						140	150	147					14																	23652104		2203	4300	6503	SO:0001583	missense	23428				blood coagulation|cellular amino acid metabolic process|leukocyte migration|metal ion homeostasis|response to toxin	basolateral plasma membrane|cytoplasm|integral to plasma membrane	neutral amino acid transmembrane transporter activity|organic cation transmembrane transporter activity|peptide antigen binding|protein binding|toxin transporter activity	g.chr14:23652104T>C	Y18483	CCDS9590.1, CCDS41924.1, CCDS58304.1, CCDS58305.1	14q11.2	2013-05-22	2011-07-12		ENSG00000092068	ENSG00000092068		"Solute carriers"	11066	protein-coding gene	gene with protein product		604235				10080183, 10391915	Standard	NM_001267036		Approved	LPI-PC1, LAT2	uc001wiz.4	Q9UHI5	OTTHUMG00000028720	ENST00000316902.7:c.20A>G	14.37:g.23652104T>C	ENSP00000320378:p.His7Arg					SLC7A8_ENST00000469263.1_Missense_Mutation_p.H7R	p.H7R	NM_012244.3	NP_036376.2	Q9UHI5	LAT2_HUMAN		GBM - Glioblastoma multiforme(265;0.00809)	1	745	-	all_cancers(95;4.6e-05)		7					B2R8Q4|B4DKT4|B4DTV6|D3DS46|F2Z2J4|Q86U05|Q9UKQ6|Q9UKQ7|Q9UKQ8|Q9Y445	Missense_Mutation	SNP	ENST00000316902.7	37	c.20A>G	CCDS9590.1	.	.	.	.	.	.	.	.	.	.	T	10.92	1.486217	0.26686	.	.	ENSG00000092068	ENST00000316902;ENST00000469263;ENST00000524758;ENST00000525062	D;D;D;D	0.93906	-2.56;-2.89;-2.69;-3.31	5.58	5.58	0.84498	.	1.742010	0.02748	N	0.117153	D	0.86389	0.5921	N	0.08118	0	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.65471	-0.6160	10	0.15066	T	0.55	.	9.0661	0.36465	0.1637:0.0:0.0:0.8362	.	7;7	E9PLV9;Q9UHI5	.;LAT2_HUMAN	R	7	ENSP00000320378:H7R;ENSP00000435114:H7R;ENSP00000434352:H7R;ENSP00000436665:H7R	ENSP00000320378:H7R	H	-	2	0	SLC7A8	22721944	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	2.031000	0.41117	2.118000	0.64928	0.459000	0.35465	CAC		0.537	SLC7A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071718.3			6	186	0	0	0	1	0	6	186					C	23652104	T	C	23652104	3	2	141	1	0	0	0	0	1	0	0	0	14704	1696	59	4	1631	4	SLC7A8	14	23652104	Missense_Mutation	SNP	T	TCGA-FC-7708-01A-11D-2114-08		23652104	83697436	36	7056											
RNF31	55072	broad.mit.edu	37	chr14	24619808	24619809	+	Splice_Site	INS	-	-	G																															ttctctctgccttcccagcaINSgggggatgctttgctggcct																										TCGA-FC-7708-01A-11D-2114-08	TCGA-FC-7708-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c977d3c1-60f0-4987-b74d-d523a17f3784	00d07ccd-92c1-4e36-9ccc-4dae23baa878	g.chr14:24619808_24619809insG	ENST00000324103.6	+	8	1519_1520	c.1199_1200insG	c.(1198-1203)cagggg>caGgggg	p.QG400fs	RNF31_ENST00000382687.3_Splice_Site_p.QG249fs|RNF31_ENST00000559275.1_Splice_Site_p.QG249fs|RP11-468E2.4_ENST00000558468.1_5'Flank	NM_017999.4	NP_060469.4	Q96EP0	RNF31_HUMAN	ring finger protein 31	400	Polyubiquitin-binding.				CD40 signaling pathway (GO:0023035)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein linear polyubiquitination (GO:0097039)|protein polyubiquitination (GO:0000209)|T cell receptor signaling pathway (GO:0050852)	CD40 receptor complex (GO:0035631)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|LUBAC complex (GO:0071797)	ligase activity (GO:0016874)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|prostate(4)|skin(2)|soft_tissue(1)	39				GBM - Glioblastoma multiforme(265;0.00861)		CCTTCCCAGCAGGGGGATGCTT	0.52																																						ENST00000324103.6																			0				breast(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|prostate(4)|skin(2)|soft_tissue(1)	39						c.e8-1		ring finger protein 31																																				SO:0001630	splice_region_variant	55072				CD40 signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protein linear polyubiquitination|T cell receptor signaling pathway	CD40 receptor complex|internal side of plasma membrane|LUBAC complex	ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr14:24619808_24619809insG	AK000973	CCDS41931.1	14q11.2	2012-09-20			ENSG00000092098	ENSG00000092098		"RING-type (C3HC4) zinc fingers"	16031	protein-coding gene	gene with protein product	"HOIL-1-interacting protein"	612487				10422847	Standard	NM_017999		Approved	ZIBRA, FLJ10111, FLJ23501, HOIP	uc001wmn.1	Q96EP0	OTTHUMG00000028798	ENST00000324103.6:c.1198-1->G	14.37:g.24619813_24619813dupG						RNF31_ENST00000559275.1_Splice_Site_p.R249_splice|RNF31_ENST00000382687.3_Splice_Site_p.R249_splice	p.R400_splice	NM_017999.4	NP_060469.4	Q96EP0	RNF31_HUMAN		GBM - Glioblastoma multiforme(265;0.00861)	8	1519_1520	+			400			Polyubiquitin-binding.		A0A962|Q86VI2|Q8TEI0|Q96GB4|Q96NF1|Q9H5F1|Q9NWD2	Splice_Site	INS	ENST00000324103.6	37	c.1197_splice	CCDS41931.1																																																																																				0.52	RNF31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071921.3	NM_017999	Frame_Shift_Ins	51	382						51	382	---	---	---	---	G	24619809	-	G	24619808	8	5	141	1	0	1	1	0	0	0	1	0	13487	202	7	0	1229	0	RNF31	14	24619808	Splice_Site	INS	-	TCGA-FC-7708-01A-11D-2114-08	967704	24619808	82729732	37	7057											
NID2	22795	broad.mit.edu	37	chr14	52520915	52520915	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtagcatggctgaaggaacGtcccaggggaacagaagagt	13	6	15	7	1	0	3	0	1	0	2	1	5	1	5	1	4	3	3	1	4	5	1	rs147980330		TCGA-FC-7708-01A-11D-2114-08	TCGA-FC-7708-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c977d3c1-60f0-4987-b74d-d523a17f3784	00d07ccd-92c1-4e36-9ccc-4dae23baa878	g.chr14:52520915G>A	ENST00000216286.5	-	4	891	c.892C>T	c.(892-894)Cgt>Tgt	p.R298C	NID2_ENST00000541773.1_Missense_Mutation_p.R245C	NM_007361.3	NP_031387.3	Q14112	NID2_HUMAN	nidogen 2 (osteonidogen)	298					basement membrane organization (GO:0071711)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|cell surface (GO:0009986)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)			NS(1)|breast(5)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(40)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	87	Breast(41;0.0639)|all_epithelial(31;0.123)					CTGAAGGAACGTCCCAGGGGA	0.517																																						ENST00000216286.5																			0				NS(1)|breast(5)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(40)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	87						c.(892-894)Cgt>Tgt		nidogen 2 (osteonidogen)		G	CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	53	51	52		892	4.6	0	14	dbSNP_134	52	4,8596	3.7+/-12.6	0,4,4296	yes	missense	NID2	NM_007361.3	180	0,5,6498	AA,AG,GG		0.0465,0.0227,0.0384	possibly-damaging	298/1376	52520915	5,13001	2203	4300	6503	SO:0001583	missense	22795					basement membrane	calcium ion binding|collagen binding	g.chr14:52520915G>A	AB009799	CCDS9706.1	14q22.1	2008-05-14			ENSG00000087303	ENSG00000087303			13389	protein-coding gene	gene with protein product		605399				9733643	Standard	NM_007361		Approved		uc001wzo.3	Q14112	OTTHUMG00000140298	ENST00000216286.5:c.892C>T	14.37:g.52520915G>A	ENSP00000216286:p.Arg298Cys					NID2_ENST00000541773.1_Missense_Mutation_p.R245C	p.R298C	NM_007361.3	NP_031387.3	Q14112	NID2_HUMAN			4	891	-	Breast(41;0.0639)|all_epithelial(31;0.123)		298					A8K6I7|B4DU19|O43710	Missense_Mutation	SNP	ENST00000216286.5	37	c.892C>T	CCDS9706.1	.	.	.	.	.	.	.	.	.	.	G	13.07	2.127347	0.37533	2.27E-4	4.65E-4	ENSG00000087303	ENST00000216286;ENST00000541773;ENST00000395707	D;D	0.83914	-1.78;-1.67	5.52	4.6	0.57074	.	1.355620	0.04247	N	0.338017	T	0.74794	0.3763	N	0.14661	0.345	0.09310	N	1	B;D;D	0.58620	0.004;0.983;0.97	B;B;B	0.43575	0.001;0.424;0.332	T	0.65425	-0.6171	10	0.56958	D	0.05	.	8.9489	0.35776	0.0:0.1435:0.5605:0.2959	.	245;300;298	Q14112-2;Q5CZI2;Q14112	.;.;NID2_HUMAN	C	298;245;300	ENSP00000216286:R298C;ENSP00000443730:R245C	ENSP00000216286:R298C	R	-	1	0	NID2	51590665	0.003000	0.15002	0.002000	0.10522	0.013000	0.08279	1.364000	0.34171	1.394000	0.46624	0.655000	0.94253	CGT		0.517	NID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276888.1			6	26	0	0	0	1	0	6	26					A	52520915	G	A	52520915	3	1	141	1	0	0	0	0	1	0	0	0	10415	1145	40	1	3311	1	NID2	14	52520915	Missense_Mutation	SNP	G	TCGA-FC-7708-01A-11D-2114-08	27901107	52520915	54828625	38	7058											
CASC5	57082	broad.mit.edu	37	chr15	40915989	40915989	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatactgttttcattgactGtcaagccacagagaaaatac	14	11	6	10	0	2	2	2	1	0	1	2	3	2	2	2	0	3	1	2	0	5	5	rs377752647		TCGA-FC-7708-01A-11D-2114-08	TCGA-FC-7708-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c977d3c1-60f0-4987-b74d-d523a17f3784	00d07ccd-92c1-4e36-9ccc-4dae23baa878	g.chr15:40915989G>A	ENST00000346991.5	+	11	3995	c.3605G>A	c.(3604-3606)tGt>tAt	p.C1202Y	CASC5_ENST00000399668.2_Missense_Mutation_p.C1176Y			Q8NG31	CASC5_HUMAN	cancer susceptibility candidate 5	1202					acrosome assembly (GO:0001675)|attachment of spindle microtubules to kinetochore (GO:0008608)|CENP-A containing nucleosome assembly (GO:0034080)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of phosphatase activity (GO:0010923)|nucleosome assembly (GO:0006334)|protein localization to kinetochore (GO:0034501)|spindle assembly checkpoint (GO:0071173)	acrosomal vesicle (GO:0001669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				NS(1)|breast(7)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(13)|lung(16)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_cancers(109;2.03e-18)|all_epithelial(112;4.26e-15)|Lung NSC(122;1.12e-10)|all_lung(180;2.59e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;4.99e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0861)|COAD - Colon adenocarcinoma(120;0.211)		TTCATTGACTGTCAAGCCACA	0.373																																						ENST00000346991.5																			0				NS(1)|breast(7)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(13)|lung(16)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	57						c.(3604-3606)tGt>tAt		cancer susceptibility candidate 5							52	50	50					15																	40915989		1830	4089	5919	SO:0001583	missense	57082				acrosome assembly|attachment of spindle microtubules to kinetochore|cell division|CenH3-containing nucleosome assembly at centromere|mitotic prometaphase|spindle assembly checkpoint	acrosomal vesicle|condensed chromosome kinetochore|cytosol|nucleoplasm	protein binding	g.chr15:40915989G>A	AF173994	CCDS42023.1, CCDS42024.1	15q14	2013-07-03			ENSG00000137812	ENSG00000137812		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	24054	protein-coding gene	gene with protein product	"cancer/testis antigen 29", "kinetochore null 1 homolog (C. elegans)", "blinkin, bub-linking kinetochore protein", "protein phosphatase 1, regulatory subunit 55"	609173				10980622, 10780384, 18045986	Standard	NM_170589		Approved	D40, AF15Q14, CT29, hKNL-1, KNL1, hSpc105, PPP1R55, Spc7	uc010bbt.1	Q8NG31	OTTHUMG00000166532	ENST00000346991.5:c.3605G>A	15.37:g.40915989G>A	ENSP00000335463:p.Cys1202Tyr					CASC5_ENST00000399668.2_Missense_Mutation_p.C1176Y	p.C1202Y			Q8NG31	CASC5_HUMAN		GBM - Glioblastoma multiforme(113;4.99e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0861)|COAD - Colon adenocarcinoma(120;0.211)	11	3995	+		all_cancers(109;2.03e-18)|all_epithelial(112;4.26e-15)|Lung NSC(122;1.12e-10)|all_lung(180;2.59e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)	1202					Q8NHE1|Q8WXA6|Q9HCK2|Q9NR92	Missense_Mutation	SNP	ENST00000346991.5	37	c.3605G>A	CCDS42023.1	.	.	.	.	.	.	.	.	.	.	G	2.178	-0.388296	0.04932	.	.	ENSG00000137812	ENST00000346991;ENST00000260369;ENST00000399668	T;T	0.27557	1.66;1.66	5.38	2.0	0.26442	.	0.252063	0.28796	N	0.014106	T	0.20941	0.0504	L	0.39397	1.21	0.21325	N	0.999722	B;B;B	0.25667	0.091;0.037;0.131	B;B;B	0.21151	0.032;0.022;0.033	T	0.17806	-1.0357	10	0.66056	D	0.02	.	5.8494	0.18683	0.1451:0.0:0.5599:0.295	.	1176;1202;1176	Q8NG31-2;Q8NG31;Q8NG31-4	.;CASC5_HUMAN;.	Y	1202;1176;1176	ENSP00000335463:C1202Y;ENSP00000382576:C1176Y	ENSP00000260369:C1176Y	C	+	2	0	CASC5	38703281	1.000000	0.71417	1.000000	0.80357	0.628000	0.37860	1.016000	0.29976	1.230000	0.43646	0.650000	0.86243	TGT		0.373	CASC5-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390224.2	NM_144508		9	40	0	0	0	1	0	9	40					A	40915989	G	A	40915989	3	1	141	1	0	0	0	0	1	0	0	0	2663	1377	48	3	3643	3	CASC5	15	40915989	Missense_Mutation	SNP	G	TCGA-FC-7708-01A-11D-2114-08		40915989	61615403	39	7059											
VPS13C	54832	broad.mit.edu	37	chr15	62320582	62320582	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttgatgtccttgtaaacaaaGttctccaagccatatatgaa	14	13	6	8	0	1	2	0	2	1	0	3	2	2	2	3	0	2	2	3	0	7	6			TCGA-FC-7708-01A-11D-2114-08	TCGA-FC-7708-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c977d3c1-60f0-4987-b74d-d523a17f3784	00d07ccd-92c1-4e36-9ccc-4dae23baa878	g.chr15:62320582G>A	ENST00000261517.5	-	6	496	c.423C>T	c.(421-423)aaC>aaT	p.N141N	VPS13C_ENST00000249837.3_Intron|VPS13C_ENST00000395896.4_Silent_p.N141N|VPS13C_ENST00000395898.3_Intron	NM_020821.2	NP_065872.1			vacuolar protein sorting 13 homolog C (S. cerevisiae)											NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						TGTAAACAAAGTTCTCCAAGC	0.388																																						ENST00000261517.5																			0				NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						c.(421-423)aaC>aaT		vacuolar protein sorting 13 homolog C (S. cerevisiae)							87	82	84					15																	62320582		2203	4300	6503	SO:0001819	synonymous_variant	54832				protein localization			g.chr15:62320582G>A	AJ608770	CCDS10180.1, CCDS32257.1, CCDS45272.1, CCDS58367.1	15q21.3	2009-07-09	2006-04-04		ENSG00000129003	ENSG00000129003			23594	protein-coding gene	gene with protein product		608879	"vacuolar protein sorting 13C (yeast)"				Standard	NM_018080		Approved	FLJ20136, FLJ10381, KIAA1421	uc002agz.3	Q709C8	OTTHUMG00000132801	ENST00000261517.5:c.423C>T	15.37:g.62320582G>A						VPS13C_ENST00000395896.4_Silent_p.N141N|VPS13C_ENST00000249837.3_Intron|VPS13C_ENST00000395898.3_Intron	p.N141N	NM_020821.2	NP_065872.1	Q709C8	VP13C_HUMAN			6	496	-			141						Silent	SNP	ENST00000261517.5	37	c.423C>T	CCDS32257.1																																																																																				0.388	VPS13C-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000415997.1	NM_017684		13	105	0	0	0	1	0	13	105					A	62320582	G	A	62320582	2	1	141	1	0	0	0	0	0	0	0	1	17188	1020	36	3		3	VPS13C	15	62320582	Silent	SNP	G	TCGA-FC-7708-01A-11D-2114-08	21404593	62320582	40210810	40	7060											
SLC16A13	201232	broad.mit.edu	37	chr17	6941915	6941915	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agttgttgctatttctgaccTcgtggggcgtgtggtctccg	3	15	14	9	3	2	1	0	1	2	0	4	1	2	1	2	3	1	3	2	3	1	4			TCGA-FC-7708-01A-11D-2114-08	TCGA-FC-7708-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c977d3c1-60f0-4987-b74d-d523a17f3784	00d07ccd-92c1-4e36-9ccc-4dae23baa878	g.chr17:6941915T>A	ENST00000308027.6	+	3	1096	c.788T>A	c.(787-789)cTc>cAc	p.L263H		NM_201566.2	NP_963860.1	Q7RTY0	MOT13_HUMAN	solute carrier family 16, member 13	263						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	symporter activity (GO:0015293)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	10						ATTTCTGACCTCGTGGGGCGT	0.587																																						ENST00000308027.6																			0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	10						c.(787-789)cTc>cAc		solute carrier family 16, member 13							120	109	113					17																	6941915		2203	4300	6503	SO:0001583	missense	201232					integral to membrane|plasma membrane	symporter activity	g.chr17:6941915T>A	BN000145	CCDS11085.1	17p13.1	2013-07-18	2013-07-18		ENSG00000174327	ENSG00000174327		"Solute carriers"	31037	protein-coding gene	gene with protein product	"monocarboxylic acid transporter 13"		"solute carrier family 16 (monocarboxylic acid transporters), member 13"				Standard	NM_201566		Approved	MCT13	uc002geh.3	Q7RTY0	OTTHUMG00000102089	ENST00000308027.6:c.788T>A	17.37:g.6941915T>A	ENSP00000309751:p.Leu263His						p.L263H	NM_201566.2	NP_963860.1	Q7RTY0	MOT13_HUMAN			3	1096	+			263					A3KMG3|A5PKU5|Q2VP92	Missense_Mutation	SNP	ENST00000308027.6	37	c.788T>A	CCDS11085.1	.	.	.	.	.	.	.	.	.	.	T	19.57	3.852844	0.71719	.	.	ENSG00000174327	ENST00000308027	T	0.61274	0.12	5.59	4.51	0.55191	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.376195	0.26761	N	0.022628	T	0.72342	0.3448	M	0.76170	2.325	0.36717	D	0.880962	D	0.76494	0.999	D	0.74674	0.984	T	0.76833	-0.2813	10	0.51188	T	0.08	.	9.9076	0.41386	0.0:0.0812:0.0:0.9188	.	263	Q7RTY0	MOT13_HUMAN	H	263	ENSP00000309751:L263H	ENSP00000309751:L263H	L	+	2	0	SLC16A13	6882639	0.958000	0.32768	0.956000	0.39512	0.980000	0.70556	2.465000	0.45075	0.942000	0.37525	0.455000	0.32223	CTC		0.587	SLC16A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219923.2			12	123	0	0	0	1	0	12	123					A	6941915	T	A	6941915	3	1	141	1	0	0	0	0	1	0	0	0	14406	1551	54	5	798	5	SLC16A13	17	6941915	Missense_Mutation	SNP	T	TCGA-FC-7708-01A-11D-2114-08		6941915	74253295	41	7061											
ZNF99	7652	broad.mit.edu	37	chr19	22939400	22939400	+	IGR	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggtgtgaggattgcttaaaaGctttgccacattcttcacat	10	14	9	8	0	2	1	1	1	1	0	2	2	2	2	1	2	3	2	1	2	2	5	rs561180336		TCGA-FC-7708-01A-11D-2114-08	TCGA-FC-7708-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c977d3c1-60f0-4987-b74d-d523a17f3784	00d07ccd-92c1-4e36-9ccc-4dae23baa878	g.chr19:22939400G>C	ENST00000596209.1	-	0	2686				ZNF99_ENST00000397104.3_Missense_Mutation_p.A924G|CTC-451A6.4_ENST00000442497.2_lincRNA	NM_001080409.2	NP_001073878.2	A8MXY4	ZNF99_HUMAN	zinc finger protein 99						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				TTGCTTAAAAGCTTTGCCACA	0.368																																						ENST00000397104.3																			0				NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124						c.(2770-2772)gCt>gGt		zinc finger protein 99							37	50	46					19																	22939400		1990	4259	6249	SO:0001628	intergenic_variant	7652							g.chr19:22939400G>C	BC021822	CCDS59369.1	19p12	2013-01-08	2006-01-17		ENSG00000213973	ENSG00000213973		"Zinc fingers, C2H2-type", "-"	13175	protein-coding gene	gene with protein product		603981	"zinc finger protein 99 (F8281)", "chromosome 19 open reading frame 9"	C19orf9			Standard	NM_001080409		Approved	MGC24986	uc021urt.1	A8MXY4			19.37:g.22939400G>C							p.A924G							7	2770	-		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)						M0R335	Missense_Mutation	SNP	ENST00000596209.1	37	c.2771C>G	CCDS59369.1	.	.	.	.	.	.	.	.	.	.	N	12.32	1.902513	0.33628	.	.	ENSG00000213973	ENST00000397104	T	0.01043	5.41	1.26	1.26	0.21427	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.01905	0.0060	.	.	.	0.09310	N	1	B	0.34103	0.437	B	0.43251	0.413	T	0.46289	-0.9202	8	0.66056	D	0.02	.	6.7624	0.23548	0.0:0.528:0.472:0.0	.	924	A8MXY4	ZNF99_HUMAN	G	924	ENSP00000380293:A924G	ENSP00000380293:A924G	A	-	2	0	ZNF99	22731240	0.000000	0.05858	0.004000	0.12327	0.157000	0.22087	-4.529000	0.00220	0.663000	0.31027	0.380000	0.24917	GCT		0.368	ZNF99-001	NOVEL	not_best_in_genome_evidence|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000464591.1	XM_065124		3	51	0	0	0	1	0	3	51					C	22939400	G	C	22939400	1	2	141	0	1	0	0	0	0	0	0	0	18201	971	34	5		5	ZNF99	19	22939400	IGR	SNP	G	TCGA-FC-7708-01A-11D-2114-08		22939400	36189583	42	7062											
ZNF146	7705	broad.mit.edu	37	chr19	36728180	36728180	+	Nonsense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgggaaagctttcagccagAagtcacaccacattagacac	14	7	9	11	0	2	2	2	0	0	2	2	3	2	3	2	1	2	1	2	1	3	2			TCGA-FC-7708-01A-11D-2114-08	TCGA-FC-7708-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c977d3c1-60f0-4987-b74d-d523a17f3784	00d07ccd-92c1-4e36-9ccc-4dae23baa878	g.chr19:36728180A>T	ENST00000443387.2	+	4	1830	c.838A>T	c.(838-840)Aag>Tag	p.K280*	ZNF565_ENST00000355114.5_Intron|ZNF146_ENST00000456324.1_Nonsense_Mutation_p.K280*	NM_007145.2	NP_009076.2	Q15072	OZF_HUMAN	zinc finger protein 146	280	Interaction with TERF2IP.				regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|heparin binding (GO:0008201)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			kidney(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	11	Esophageal squamous(110;0.162)					TTTCAGCCAGAAGTCACACCA	0.413																																						ENST00000456324.1																			0				kidney(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	11						c.(838-840)Aag>Tag		zinc finger protein 146							63	58	60					19																	36728180		2203	4300	6503	SO:0001587	stop_gained	7705				regulation of transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|heparin binding|zinc ion binding	g.chr19:36728180A>T	X70394	CCDS12492.1	19q13.1	2013-01-08				ENSG00000167635		"Zinc fingers, C2H2-type"	12931	protein-coding gene	gene with protein product		601505				10449921, 8641144	Standard	NM_001099639		Approved	OZF	uc010eeu.3	Q15072		ENST00000443387.2:c.838A>T	19.37:g.36728180A>T	ENSP00000392095:p.Lys280*					ZNF146_ENST00000443387.2_Nonsense_Mutation_p.K280*|ZNF565_ENST00000355114.5_Intron	p.K280*	NM_001099638.1|NM_001099639.1	NP_001093108.1|NP_001093109.1	Q15072	OZF_HUMAN			3	2287	+	Esophageal squamous(110;0.162)		280			Interaction with TERF2IP.		Q2TB94	Nonsense_Mutation	SNP	ENST00000443387.2	37	c.838A>T	CCDS12492.1	.	.	.	.	.	.	.	.	.	.	A	48	14.576353	0.99801	.	.	ENSG00000167635	ENST00000443387;ENST00000456324	.	.	.	4.48	4.48	0.54585	.	0.000000	0.42053	D	0.000779	.	.	.	.	.	.	0.37684	D	0.923604	.	.	.	.	.	.	.	.	.	.	0.22706	T	0.39	-10.969	8.5933	0.33701	0.9088:0.0:0.0911:0.0	.	.	.	.	X	280	.	ENSP00000392095:K280X	K	+	1	0	ZNF146	41420020	0.001000	0.12720	1.000000	0.80357	0.989000	0.77384	1.706000	0.37878	2.242000	0.73789	0.459000	0.35465	AAG		0.413	ZNF146-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451706.1	NM_007145		5	44	0	0	0	1	0	5	44					T	36728180	A	T	36728180	4	4	141	1	0	0	0	0	0	1	0	0	17730	247	9	5	840	5	ZNF146	19	36728180	Nonsense_Mutation	SNP	A	TCGA-FC-7708-01A-11D-2114-08	13788780	36728180	22400803	43	7063											
ZNF578	147660	broad.mit.edu	37	chr19	53014710	53014710	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cagttacaagtcatcccttaGatgccatcgtagacttcata	12	12	6	11	1	2	2	2	0	0	2	4	2	3	2	2	0	2	2	2	0	5	5			TCGA-FC-7708-01A-11D-2114-08	TCGA-FC-7708-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c977d3c1-60f0-4987-b74d-d523a17f3784	00d07ccd-92c1-4e36-9ccc-4dae23baa878	g.chr19:53014710G>C	ENST00000421239.2	+	6	1320	c.1076G>C	c.(1075-1077)aGa>aCa	p.R359T	CTD-3099C6.5_ENST00000599143.1_RNA	NM_001099694.1	NP_001093164.1	Q96N58	ZN578_HUMAN	zinc finger protein 578	359					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)								GBM - Glioblastoma multiforme(134;0.00819)|OV - Ovarian serous cystadenocarcinoma(262;0.01)		TCATCCCTTAGATGCCATCGT	0.388																																						ENST00000421239.2																			0											c.(1075-1077)aGa>aCa		zinc finger protein 578							111	116	115					19																	53014710		2203	4299	6502	SO:0001583	missense	147660				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53014710G>C	AK095562	CCDS54310.1	19q13.41	2013-09-20			ENSG00000258405	ENSG00000258405		"Zinc fingers, C2H2-type", "-"	26449	protein-coding gene	gene with protein product							Standard	NM_001099694		Approved	FLJ31384	uc002pzp.4	Q96N58	OTTHUMG00000156468	ENST00000421239.2:c.1076G>C	19.37:g.53014710G>C	ENSP00000459216:p.Arg359Thr					CTD-3099C6.5_ENST00000599143.1_RNA	p.R359T	NM_001099694.1	NP_001093164.1	Q96N58	ZN578_HUMAN		GBM - Glioblastoma multiforme(134;0.00819)|OV - Ovarian serous cystadenocarcinoma(262;0.01)	6	1320	+			134					B4DR51|I3L1Y6	Missense_Mutation	SNP	ENST00000421239.2	37	c.1076G>C	CCDS54310.1	.	.	.	.	.	.	.	.	.	.	-	0.004	-2.245049	0.00271	.	.	ENSG00000258405	ENST00000553364	.	.	.	1.48	-2.97	0.05530	.	.	.	.	.	T	0.22820	0.0551	N	0.20807	0.61	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.24835	-1.0149	7	.	.	.	.	8.39	0.32522	0.0:0.5274:0.4726:0.0	.	359	G3V4F6	.	T	359	.	.	R	+	2	0	ZNF578	57706522	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	-4.880000	0.00174	-0.575000	0.05982	-0.989000	0.02550	AGA		0.388	ZNF578-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344298.3	NM_152472		3	126	0	0	0	1	0	3	126					C	53014710	G	C	53014710	3	2	141	1	0	0	0	0	1	0	0	0	18007	942	33	5	1086	5	ZNF578	19	53014710	Missense_Mutation	SNP	G	TCGA-FC-7708-01A-11D-2114-08	16286530	53014710	6114273	44	7064											
FRMD7	90167	broad.mit.edu	37	chrX	131212858	131212858	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgggatccgcctctggtttgGaatgctccagctcagttgca	6	12	12	11	1	2	0	1	0	1	0	4	2	4	2	3	3	3	5	3	3	1	2			TCGA-FC-7708-01A-11D-2114-08	TCGA-FC-7708-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c977d3c1-60f0-4987-b74d-d523a17f3784	00d07ccd-92c1-4e36-9ccc-4dae23baa878	g.chrX:131212858G>T	ENST00000298542.4	-	12	1362	c.1187C>A	c.(1186-1188)tCc>tAc	p.S396Y	FRMD7_ENST00000370879.1_Missense_Mutation_p.S276Y|FRMD7_ENST00000464296.1_Missense_Mutation_p.S381Y	NM_194277.2	NP_919253.1	Q6ZUT3	FRMD7_HUMAN	FERM domain containing 7	396					regulation of neuron projection development (GO:0010975)	cytoskeleton (GO:0005856)|extracellular space (GO:0005615)|growth cone (GO:0030426)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)				breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(12)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24	Acute lymphoblastic leukemia(192;0.000127)					CTCTGGTTTGGAatgctccag	0.478																																						ENST00000298542.4																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(12)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24						c.(1186-1188)tCc>tAc		FERM domain containing 7							184	163	170					X																	131212858		2203	4300	6503	SO:0001583	missense	90167				regulation of neuron projection development	cytoskeleton|growth cone|neuronal cell body	binding	g.chrX:131212858G>T	AL161984	CCDS35397.1	Xq26.2	2014-09-17	2006-09-01	2006-09-01	ENSG00000165694	ENSG00000165694			8079	protein-coding gene	gene with protein product		300628	"nystagmus 1, congenital"	NYS, NYS1		2063919, 17013395	Standard	NM_194277		Approved	FLJ43346	uc004ewn.3	Q6ZUT3	OTTHUMG00000022421	ENST00000298542.4:c.1187C>A	X.37:g.131212858G>T	ENSP00000298542:p.Ser396Tyr					FRMD7_ENST00000370879.1_Missense_Mutation_p.S276Y|FRMD7_ENST00000464296.1_Missense_Mutation_p.S381Y	p.S396Y	NM_194277.2	NP_919253.1	Q6ZUT3	FRMD7_HUMAN			12	1362	-	Acute lymphoblastic leukemia(192;0.000127)		396					C0LLJ3|Q5JX99	Missense_Mutation	SNP	ENST00000298542.4	37	c.1187C>A	CCDS35397.1	.	.	.	.	.	.	.	.	.	.	G	11.24	1.581116	0.28180	.	.	ENSG00000165694	ENST00000370879;ENST00000298542;ENST00000464296	D;D;D	0.89343	-2.5;-2.12;-2.22	5.83	5.83	0.93111	.	0.081565	0.52532	D	0.000067	D	0.92606	0.7651	M	0.69823	2.125	0.30639	N	0.756654	D;D	0.64830	0.994;0.99	P;P	0.60682	0.878;0.825	D	0.91378	0.5125	10	0.54805	T	0.06	.	13.2594	0.60097	0.0793:0.0:0.9207:0.0	.	381;396	Q6ZUT3-2;Q6ZUT3	.;FRMD7_HUMAN	Y	276;396;381	ENSP00000359916:S276Y;ENSP00000298542:S396Y;ENSP00000417996:S381Y	ENSP00000298542:S396Y	S	-	2	0	FRMD7	131040539	1.000000	0.71417	0.880000	0.34516	0.066000	0.16364	5.255000	0.65462	2.460000	0.83146	0.600000	0.82982	TCC		0.478	FRMD7-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000355031.1	NM_194277		40	100	1	0	5.20006e-24	1	6.14553e-24	40	100					T	131212858	G	T	131212858	3	4	141	1	0	0	0	0	1	0	0	0	6055	1174	41	5	961	5	FRMD7	23	131212858	Missense_Mutation	SNP	G	TCGA-FC-7708-01A-11D-2114-08		131212858	24057702	45	7065											
CA6	765	broad.mit.edu	37	chr1	9031007	9031007	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaggacccagcccctgaacCacagagtggtggaatccaac	12	4	11	14	0	0	2	0	1	0	1	1	4	1	4	5	3	3	1	5	3	3	0			TCGA-FC-7961-01A-11D-A29Q-08	TCGA-FC-7961-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fdfbae-715d-4b84-9c40-5f5823a79bef	610916cc-7c38-42e8-8b8d-591284520b3e	g.chr1:9031007C>T	ENST00000377443.2	+	7	815	c.811C>T	c.(811-813)Cac>Tac	p.H271Y	CA6_ENST00000476083.1_3'UTR|CA6_ENST00000377436.3_Missense_Mutation_p.H271Y|CA6_ENST00000377442.2_Missense_Mutation_p.H211Y	NM_001215.3	NP_001206.2	P23280	CAH6_HUMAN	carbonic anhydrase VI	271					bicarbonate transport (GO:0015701)|detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|one-carbon metabolic process (GO:0006730)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	carbonate dehydratase activity (GO:0004089)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|skin(5)	16	Ovarian(185;0.112)|all_lung(157;0.143)	all_epithelial(116;1.02e-19)|all_lung(118;3.6e-06)|Lung NSC(185;7.94e-06)|Renal(390;0.000147)|Breast(348;0.00123)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.9e-07)|COAD - Colon adenocarcinoma(227;8.28e-05)|Kidney(185;0.000268)|KIRC - Kidney renal clear cell carcinoma(229;0.000971)|STAD - Stomach adenocarcinoma(132;0.00184)|BRCA - Breast invasive adenocarcinoma(304;0.00192)|READ - Rectum adenocarcinoma(331;0.0649)	Mafenide(DB06795)|Zonisamide(DB00909)	GCCCCTGAACCACAGAGTGGT	0.532																																						ENST00000377443.2																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|skin(5)	16						c.(811-813)Cac>Tac		carbonic anhydrase VI							137	122	127					1																	9031007		2203	4300	6503	SO:0001583	missense	765				one-carbon metabolic process	extracellular region	carbonate dehydratase activity|zinc ion binding	g.chr1:9031007C>T	M57892	CCDS30578.1, CCDS57970.1, CCDS57971.1	1p36.2	2008-02-05			ENSG00000131686	ENSG00000131686	4.2.1.1	"Carbonic anhydrases"	1380	protein-coding gene	gene with protein product		114780				9691177	Standard	NM_001215		Approved		uc031plc.1	P23280	OTTHUMG00000001763	ENST00000377443.2:c.811C>T	1.37:g.9031007C>T	ENSP00000366662:p.His271Tyr					CA6_ENST00000377442.2_Missense_Mutation_p.H211Y|CA6_ENST00000377436.3_Missense_Mutation_p.H271Y|CA6_ENST00000476083.1_3'UTR	p.H271Y	NM_001215.3	NP_001206.2	P23280	CAH6_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.9e-07)|COAD - Colon adenocarcinoma(227;8.28e-05)|Kidney(185;0.000268)|KIRC - Kidney renal clear cell carcinoma(229;0.000971)|STAD - Stomach adenocarcinoma(132;0.00184)|BRCA - Breast invasive adenocarcinoma(304;0.00192)|READ - Rectum adenocarcinoma(331;0.0649)	7	815	+	Ovarian(185;0.112)|all_lung(157;0.143)	all_epithelial(116;1.02e-19)|all_lung(118;3.6e-06)|Lung NSC(185;7.94e-06)|Renal(390;0.000147)|Breast(348;0.00123)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)	271					E7EMQ1|Q5FBW3|Q5FC00|Q96QX8|Q9UF03	Missense_Mutation	SNP	ENST00000377443.2	37	c.811C>T	CCDS30578.1	.	.	.	.	.	.	.	.	.	.	C	10.31	1.315862	0.23908	.	.	ENSG00000131686	ENST00000377443;ENST00000377436;ENST00000377442	T;T;T	0.52983	0.64;0.64;0.64	5.71	-11.4	0.00090	Carbonic anhydrase, alpha-class, catalytic domain (4);	1.524830	0.03385	N	0.200976	T	0.35799	0.0944	L	0.52126	1.63	0.18873	N	0.999986	P;P	0.44478	0.836;0.836	B;B	0.40565	0.333;0.333	T	0.52646	-0.8548	10	0.51188	T	0.08	.	7.0136	0.24875	0.4702:0.1241:0.3469:0.0588	.	211;271	E7EMQ1;P23280	.;CAH6_HUMAN	Y	271;271;211	ENSP00000366662:H271Y;ENSP00000366654:H271Y;ENSP00000366661:H211Y	ENSP00000366654:H271Y	H	+	1	0	CA6	8953594	0.000000	0.05858	0.000000	0.03702	0.098000	0.18820	-3.006000	0.00650	-3.473000	0.00156	0.195000	0.17529	CAC		0.532	CA6-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000004911.1			15	74	0	0	0	1	0	15	74					T	9031007	C	T	9031007	3	4	142	1	0	0	0	0	1	0	0	0	2521	594	21	3	837	3	CA6	1	9031007	Missense_Mutation	SNP	C	TCGA-FC-7961-01A-11D-A29Q-08		9031007	240219614	1	7066											
NOTCH2	4853	broad.mit.edu	37	chr1	120480514	120480514	+	Frame_Shift_Del	DEL	G	G	-																															gctatgtcacaagagacattGggcacgtcacaataggcacc																										TCGA-FC-7961-01A-11D-A29Q-08	TCGA-FC-7961-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fdfbae-715d-4b84-9c40-5f5823a79bef	610916cc-7c38-42e8-8b8d-591284520b3e	g.chr1:120480514delG	ENST00000256646.2	-	20	3522	c.3303delC	c.(3301-3303)cccfs	p.P1101fs		NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2	1101	EGF-like 29. {ECO:0000255|PROSITE- ProRule:PRU00076}.				apoptotic process (GO:0006915)|atrial septum morphogenesis (GO:0060413)|bone remodeling (GO:0046849)|cell cycle arrest (GO:0007050)|cell fate determination (GO:0001709)|cell growth (GO:0016049)|ciliary body morphogenesis (GO:0061073)|determination of left/right symmetry (GO:0007368)|embryonic limb morphogenesis (GO:0030326)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|humoral immune response (GO:0006959)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|intracellular receptor signaling pathway (GO:0030522)|morphogenesis of an epithelial sheet (GO:0002011)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|placenta blood vessel development (GO:0060674)|positive regulation of apoptotic process (GO:0043065)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation (GO:0008284)|positive regulation of Ras protein signal transduction (GO:0046579)|pulmonary valve morphogenesis (GO:0003184)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell surface (GO:0009986)|cilium (GO:0005929)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|ligand-activated RNA polymerase II transcription factor binding transcription factor activity (GO:0038049)|receptor activity (GO:0004872)			breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		AAGAGACATTGGGCACGTCAC	0.498			"N, F, Mis"		"marginal zone lymphoma, DLBCL"				Alagille Syndrome																													ENST00000256646.2				Dom	yes		1	1p13-p11	4853	"N, F, Mis"	Notch homolog 2			L			"marginal zone lymphoma, DLBCL"		0				breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158						c.(3301-3303)ccfs		notch 2							127	111	117					1																	120480514		2203	4300	6503	SO:0001589	frameshift_variant	4853	Alagille Syndrome	Familial Cancer Database	ALGS1, ALGS2.Alagille-Watson syndrome	anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity	g.chr1:120480514delG	AF315356	CCDS908.1	1p13-p11	2013-01-10	2010-06-24		ENSG00000134250	ENSG00000134250		"Ankyrin repeat domain containing"	7882	protein-coding gene	gene with protein product		600275	"Notch (Drosophila) homolog 2", "Notch homolog 2 (Drosophila)"			7698746	Standard	NM_001200001		Approved		uc001eik.3	Q04721	OTTHUMG00000012177	ENST00000256646.2:c.3303delC	1.37:g.120480514delG	ENSP00000256646:p.Pro1101fs						p.P1101fs	NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)	20	3522	-	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)	1101			EGF-like 29.		Q5T3X7|Q99734|Q9H240	Frame_Shift_Del	DEL	ENST00000256646.2	37	c.3303delC	CCDS908.1																																																																																				0.498	NOTCH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033679.1	NM_024408		14	60						14	60	---	---	---	---	-	120480514	G	-	120480514	7	5	142	1	0	1	0	1	0	0	0	0	10548	1335	47	0	4172	0	NOTCH2	1	120480514	Frame_Shift_Del	DEL	G	TCGA-FC-7961-01A-11D-A29Q-08	111449507	120480514	128770107	2	7067											
NBPF10	100132406	broad.mit.edu	37	chr1	145368503	145368503	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acaggactcactggatagatGttattcgactccgtcaatgt	11	12	9	9	2	2	1	2	0	0	1	4	4	3	3	1	2	0	1	1	2	3	3			TCGA-FC-7961-01A-11D-A29Q-08	TCGA-FC-7961-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fdfbae-715d-4b84-9c40-5f5823a79bef	610916cc-7c38-42e8-8b8d-591284520b3e	g.chr1:145368503G>C	ENST00000369339.3	+	17	2088	c.1835G>C	c.(1834-1836)tGt>tCt	p.C612S	NBPF10_ENST00000369338.1_Missense_Mutation_p.C610S|NBPF10_ENST00000342960.5_Missense_Mutation_p.C3494S			Q6P3W6	NBPFA_HUMAN	neuroblastoma breakpoint family, member 10	789	NBPF 4. {ECO:0000255|PROSITE- ProRule:PRU00647}.					cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		CTGGATAGATGTTATTCGACT	0.463																																						ENST00000342960.5																			0				NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73						c.(10480-10482)tGt>tCt		neuroblastoma breakpoint family, member 10																																				SO:0001583	missense	100132406							g.chr1:145368503G>C	BC021111		1q21.1	2013-01-17			ENSG00000163386	ENSG00000271425		"neuroblastoma breakpoint family"	31992	protein-coding gene	gene with protein product		614000				16079250	Standard	NM_001039703		Approved	AG1		Q6P3W6	OTTHUMG00000013757	ENST00000369339.3:c.1835G>C	1.37:g.145368503G>C	ENSP00000358345:p.Cys612Ser					NBPF10_ENST00000369338.1_Missense_Mutation_p.C610S|NBPF10_ENST00000369339.2_Missense_Mutation_p.C612S	p.C3494S	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN		Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	84	10516	+	all_hematologic(923;0.032)		3494					Q5RHC0|Q9NWN6	Missense_Mutation	SNP	ENST00000369339.3	37	c.10481G>C		.	.	.	.	.	.	.	.	.	.	.	0.175	-1.068202	0.01934	.	.	ENSG00000163386	ENST00000369339;ENST00000369338;ENST00000342960	T;T	0.08984	3.03;3.03	0.732	-1.46	0.08800	.	.	.	.	.	T	0.02571	0.0078	M	0.76170	2.325	0.09310	N	1	B	0.06786	0.001	B	0.12837	0.008	T	0.42085	-0.9472	9	0.42905	T	0.14	.	2.7878	0.05379	0.4398:0.2529:0.3073:0.0	.	558	Q4VC10	.	S	614;610;3494	ENSP00000358344:C610S;ENSP00000345684:C3494S	ENSP00000345684:C3494S	C	+	2	0	NBPF10	144079860	0.481000	0.25941	0.000000	0.03702	0.001000	0.01503	-1.422000	0.02453	-2.197000	0.00750	-0.909000	0.02823	TGT		0.463	NBPF10-001	KNOWN	not_best_in_genome_evidence|basic	protein_coding	protein_coding	OTTHUMT00000038550.3	NM_001039703		10	663	0	0	0	1	0	10	663					C	145368503	G	C	145368503	3	2	142	1	0	0	0	0	1	0	0	0	10193	1377	48	5	10815	5	NBPF10	1	145368503	Missense_Mutation	SNP	G	TCGA-FC-7961-01A-11D-A29Q-08	24887989	145368503	103882118	3	7068											
SMCP	4184	broad.mit.edu	37	chr1	152857072	152857072	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccaccaaaacacaatcactgCtgccagccaaaacccccatg	15	4	4	18	0	1	0	1	0	0	0	1	0	1	0	6	0	5	1	6	0	5	0			TCGA-FC-7961-01A-11D-A29Q-08	TCGA-FC-7961-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fdfbae-715d-4b84-9c40-5f5823a79bef	610916cc-7c38-42e8-8b8d-591284520b3e	g.chr1:152857072C>T	ENST00000368765.3	+	2	324	c.174C>T	c.(172-174)tgC>tgT	p.C58C		NM_030663.2	NP_109588.2	P49901	MCSP_HUMAN	sperm mitochondria-associated cysteine-rich protein	58	7 X 7 (OR 8) AA approximate repeats.				penetration of zona pellucida (GO:0007341)|sperm motility (GO:0030317)	cytoplasm (GO:0005737)|membrane (GO:0016020)|mitochondrion (GO:0005739)				breast(1)|cervix(1)|endometrium(1)|lung(4)|urinary_tract(1)	8	Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			ACAATCACTGCTGCCAGCCAA	0.537																																						ENST00000368765.3																			0				breast(1)|cervix(1)|endometrium(1)|lung(4)|urinary_tract(1)	8						c.(172-174)tgC>tgT		sperm mitochondria-associated cysteine-rich protein							156	143	147					1																	152857072		2203	4300	6503	SO:0001819	synonymous_variant	4184				penetration of zona pellucida|sperm motility	mitochondrial membrane		g.chr1:152857072C>T	BC014593	CCDS1029.1	1q21.3	2009-03-19	2005-10-06	2005-10-06	ENSG00000163206	ENSG00000163206			6962	protein-coding gene	gene with protein product		601148	"mitochondrial capsule selenoprotein"	MCSP		8833144	Standard	NM_030663		Approved		uc001fat.3	P49901	OTTHUMG00000012452	ENST00000368765.3:c.174C>T	1.37:g.152857072C>T							p.C58C	NM_030663.2	NP_109588.2	P49901	MCSP_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		2	324	+	Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		58			7 X 7 (OR 8) AA approximate repeats.		Q96A42	Silent	SNP	ENST00000368765.3	37	c.174C>T	CCDS1029.1																																																																																				0.537	SMCP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034665.1	NM_030663		18	200	0	0	0	1	0	18	200					T	152857072	C	T	152857072	2	4	142	1	0	0	0	0	0	0	0	1	14789	805	28	3		3	SMCP	1	152857072	Silent	SNP	C	TCGA-FC-7961-01A-11D-A29Q-08	7488569	152857072	96393549	4	7069											
INTS3	65123	broad.mit.edu	37	chr1	153732836	153732836	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgaagccccacccagccatCactgccacactcctggactt	10	7	6	18	0	1	1	1	1	0	0	2	2	2	2	6	1	3	0	6	1	1	1	rs373150550		TCGA-FC-7961-01A-11D-A29Q-08	TCGA-FC-7961-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fdfbae-715d-4b84-9c40-5f5823a79bef	610916cc-7c38-42e8-8b8d-591284520b3e	g.chr1:153732836C>A	ENST00000318967.2	+	12	1855	c.1287C>A	c.(1285-1287)atC>atA	p.I429I	INTS3_ENST00000476843.1_3'UTR|INTS3_ENST00000512605.1_Silent_p.I223I|INTS3_ENST00000435409.2_Silent_p.I429I|INTS3_ENST00000456435.1_Silent_p.I223I	NM_023015.3	NP_075391.3	Q68E01	INT3_HUMAN	integrator complex subunit 3	430					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|mitotic cell cycle checkpoint (GO:0007093)|response to ionizing radiation (GO:0010212)|snRNA processing (GO:0016180)	integrator complex (GO:0032039)|nucleus (GO:0005634)|SOSS complex (GO:0070876)				breast(1)|cervix(4)|endometrium(10)|kidney(1)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	38	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			ACCCAGCCATCACTGCCACAC	0.522																																						ENST00000456435.1																			0				breast(1)|cervix(4)|endometrium(10)|kidney(1)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						c.(667-669)atC>atA		integrator complex subunit 3							125	87	100					1																	153732836		2203	4300	6503	SO:0001819	synonymous_variant	65123				DNA repair|G2/M transition checkpoint|response to ionizing radiation|snRNA processing	integrator complex|SOSS complex	protein binding	g.chr1:153732836C>A	BX640950	CCDS1052.1	1q21.3	2012-03-16	2006-03-15	2006-03-15	ENSG00000143624	ENSG00000143624			26153	protein-coding gene	gene with protein product	"sensor of single-strand DNA complex subunit A"	611347	"chromosome 1 open reading frame 60"	C1orf60		16239144	Standard	NM_023015		Approved	FLJ21919, INT3, SOSS-A	uc001fct.3	Q68E01	OTTHUMG00000037089	ENST00000318967.2:c.1287C>A	1.37:g.153732836C>A						INTS3_ENST00000512605.1_Silent_p.I223I|INTS3_ENST00000318967.2_Silent_p.I429I|INTS3_ENST00000476843.1_3'UTR|INTS3_ENST00000435409.2_Silent_p.I429I	p.I223I			Q68E01	INT3_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.151)		12	1855	+	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		430					A8K1W0|B4DQC8|B4E3U9|D3DV57|Q4G0E5|Q5VUQ5|Q5VUQ6|Q5VUR0|Q5VUR1|Q68DJ1|Q69YR5|Q6AI57|Q6DKG7|Q6MZQ4|Q6MZZ9|Q8NC46|Q8TB23|Q9H6S9	Silent	SNP	ENST00000318967.2	37	c.669C>A	CCDS1052.1																																																																																				0.522	INTS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090045.2	NM_023015		5	54	1	0	1	1	1	5	54					A	153732836	C	A	153732836	2	1	142	1	0	0	0	0	0	0	0	1	7779	816	29	5		5	INTS3	1	153732836	Silent	SNP	C	TCGA-FC-7961-01A-11D-A29Q-08	875764	153732836	95517785	5	7070											
SLC27A3	11000	broad.mit.edu	37	chr1	153748614	153748615	+	Frame_Shift_Del	DEL	GC	GC	-																															gcactgcctccgcagctgcgGcgcgcgcgcgctggtgctgg																										TCGA-FC-7961-01A-11D-A29Q-08	TCGA-FC-7961-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fdfbae-715d-4b84-9c40-5f5823a79bef	610916cc-7c38-42e8-8b8d-591284520b3e	g.chr1:153748614_153748615delGC	ENST00000368661.3	+	1	847_848	c.782_783delGC	c.(781-783)ggcfs	p.G261fs	SLC27A3_ENST00000271857.2_Frame_Shift_Del_p.G342fs|SLC27A3_ENST00000484014.1_3'UTR	NM_024330.1	NP_077306.1	Q5K4L6	S27A3_HUMAN	solute carrier family 27 (fatty acid transporter), member 3	261					fatty acid metabolic process (GO:0006631)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrion (GO:0005739)	fatty-acyl-CoA synthase activity (GO:0004321)|ligase activity (GO:0016874)|nucleotide binding (GO:0000166)			NS(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	14	all_lung(78;6.47e-32)|Lung NSC(65;2.52e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			CGCAGCTGCGGCGCGCGCGCGC	0.718																																						ENST00000271857.2																			0				NS(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	14						c.(1024-1026)gfs		solute carrier family 27 (fatty acid transporter), member 3				26,2210		5,16,1097						2.7	1			3	69,5013		8,53,2480	no	frameshift	SLC27A3	NM_024330.1		13,69,3577	A1A1,A1R,RR		1.3577,1.1628,1.2982				95,7223				SO:0001589	frameshift_variant	11000				fatty acid metabolic process	integral to membrane|mitochondrial membrane	ligase activity|nucleotide binding	g.chr1:153748614_153748615delGC	BC009916	CCDS1053.1	1q21.1	2013-05-22			ENSG00000143554	ENSG00000143554		"Acyl-CoA synthetase family", "Solute carriers"	10997	protein-coding gene	gene with protein product		604193				9671728	Standard	NM_024330		Approved	FATP3, MGC4365, ACSVL3	uc001fcz.3	Q5K4L6	OTTHUMG00000037155	ENST00000368661.3:c.782_783delGC	1.37:g.153748624_153748625delGC	ENSP00000357650:p.Gly261fs					SLC27A3_ENST00000368661.3_Frame_Shift_Del_p.G261fs|SLC27A3_ENST00000484014.1_3'UTR	p.G342fs			Q5K4L6	S27A3_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.151)		1	1785_1786	+	all_lung(78;6.47e-32)|Lung NSC(65;2.52e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		261					Q5VUQ7|Q5VUQ8|Q5VUR3|Q6ZV16|Q8N2X7|Q8TEJ0|Q96SW5|Q9BTJ5|Q9BTY5	Frame_Shift_Del	DEL	ENST00000368661.3	37	c.1025_1026delGC	CCDS1053.1																																																																																				0.718	SLC27A3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_024330		2	4						2	4	---	---	---	---	-	153748615	GC	-	153748614	7	5	142	1	0	1	0	1	0	0	0	0	14527	1203	42	0	784	0	SLC27A3	1	153748614	Frame_Shift_Del	DEL	GC	TCGA-FC-7961-01A-11D-A29Q-08	15778	153748614	95502007	6	7071											
SPTA1	6708	broad.mit.edu	37	chr1	158605702	158605702	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ggccttctgtatcccactcaCcgggccttggccaactcttt	5	12	8	16	1	3	0	1	0	2	0	4	0	4	0	5	3	1	1	5	3	2	4			TCGA-FC-7961-01A-11D-A29Q-08	TCGA-FC-7961-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fdfbae-715d-4b84-9c40-5f5823a79bef	610916cc-7c38-42e8-8b8d-591284520b3e	g.chr1:158605702C>A	ENST00000368147.4	-	38	5613		c.e38+1			NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1						actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					ATCCCACTCACCGGGCCTTGG	0.537																																						ENST00000368148.3																			0				NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307						c.e38+1		spectrin, alpha, erythrocytic 1 (elliptocytosis 2)							73	76	75					1																	158605702		1924	4141	6065	SO:0001630	splice_region_variant	6708				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	g.chr1:158605702C>A	M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"EF-hand domain containing"	11272	protein-coding gene	gene with protein product	"elliptocytosis 2"	182860	"spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.5432+1G>T	1.37:g.158605702C>A						SPTA1_ENST00000368147.3_Splice_Site		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN			38	5613	-	all_hematologic(112;0.0378)							Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Splice_Site	SNP	ENST00000368147.4	37		CCDS41423.1	.	.	.	.	.	.	.	.	.	.	C	27.3	4.815614	0.90790	.	.	ENSG00000163554	ENST00000368148;ENST00000368147	.	.	.	5.65	5.65	0.86999	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.4695	0.90767	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SPTA1	156872326	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	7.106000	0.77039	2.941000	0.99782	0.655000	0.94253	.		0.537	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126	Intron	4	115	1	0	0.00116845	1	0.001255	4	115					A	158605702	C	A	158605702	5	1	142	1	0	0	0	0	0	0	1	0	15115	521	18	5	1886	5	SPTA1	1	158605702	Splice_Site	SNP	C	TCGA-FC-7961-01A-11D-A29Q-08	4857088	158605702	90644919	7	7072											
FCRLB	127943	broad.mit.edu	37	chr1	161697142	161697142	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aaagcccccggtgtccagatCggtcccgttggtcacctccg	6	8	11	16	4	1	1	1	0	0	1	5	1	4	1	6	3	1	1	6	3	1	1			TCGA-FC-7961-01A-11D-A29Q-08	TCGA-FC-7961-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fdfbae-715d-4b84-9c40-5f5823a79bef	610916cc-7c38-42e8-8b8d-591284520b3e	g.chr1:161697142C>T	ENST00000367948.2	+	8	1186	c.971C>T	c.(970-972)tCg>tTg	p.S324L	FCRLB_ENST00000495397.1_3'UTR|FCRLB_ENST00000392158.1_Missense_Mutation_p.S324L|FCRLB_ENST00000367944.3_3'UTR|FCRLB_ENST00000367945.1_Missense_Mutation_p.R269W|FCRLB_ENST00000336830.5_3'UTR|FCRLB_ENST00000367946.3_Missense_Mutation_p.R276W			Q6BAA4	FCRLB_HUMAN	Fc receptor-like B	324					negative regulation of immune response (GO:0050777)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|skin(1)	17	all_hematologic(112;0.0359)		BRCA - Breast invasive adenocarcinoma(70;0.00634)			GTGTCCAGATCGGTCCCGTTG	0.721																																						ENST00000367948.2																			0				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|skin(1)	17						c.(970-972)tCg>tTg		Fc receptor-like B							20	21	21					1																	161697142		2203	4298	6501	SO:0001583	missense	127943					endoplasmic reticulum		g.chr1:161697142C>T	AY670683	CCDS30927.1, CCDS72962.1, CCDS72963.1, CCDS72964.1, CCDS72965.1	1q23.3	2013-01-11	2006-09-26	2006-09-26	ENSG00000162746	ENSG00000162746		"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	26431	protein-coding gene	gene with protein product		609251	"Fc receptor-like and mucin-like 2"	FCRLM2		15676285	Standard	NM_001288829		Approved	FLJ31052, FCRL2, FREB-2, FCRLY	uc001gbi.3	Q6BAA4	OTTHUMG00000133629	ENST00000367948.2:c.971C>T	1.37:g.161697142C>T	ENSP00000356925:p.Ser324Leu					FCRLB_ENST00000336830.5_3'UTR|FCRLB_ENST00000367946.3_Missense_Mutation_p.R276W|FCRLB_ENST00000367944.3_3'UTR|FCRLB_ENST00000367945.1_Missense_Mutation_p.R269W|FCRLB_ENST00000495397.1_3'UTR|FCRLB_ENST00000392158.1_Missense_Mutation_p.S324L	p.S324L			Q6BAA4	FCRLB_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00634)		8	1186	+	all_hematologic(112;0.0359)		324					A2A3J5|A2A3J7|Q5VXA6|Q6BAA0|Q6BAA1|Q6BAA2|Q6BAA3|Q8IXZ7	Missense_Mutation	SNP	ENST00000367948.2	37	c.971C>T	CCDS30927.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.31|14.31	2.496575|2.496575	0.44352|0.44352	.|.	.|.	ENSG00000162746|ENSG00000162746	ENST00000367946;ENST00000367945|ENST00000367948;ENST00000392158	T;T|D;D	0.02301|0.96522	4.35;4.37|-4.04;-4.04	4.27|4.27	3.33|3.33	0.38152|0.38152	.|.	.|0.605970	.|0.14305	.|N	.|0.328074	D|D	0.89068|0.89068	0.6610|0.6610	L|L	0.45581|0.45581	1.43|1.43	0.19300|0.19300	N|N	0.999976|0.999976	B;B|B	0.14438|0.14805	0.01;0.01|0.011	B;B|B	0.10450|0.04013	0.003;0.005|0.001	D|D	0.83535|0.83535	0.0093|0.0093	9|10	0.66056|0.45353	D|T	0.02|0.12	.|.	8.1342|8.1342	0.31046|0.31046	0.0:0.8856:0.0:0.1144|0.0:0.8856:0.0:0.1144	.|.	269;276|324	Q6BAA4-5;Q6BAA4-4|Q6BAA4	.;.|FCRLB_HUMAN	W|L	276;269|324	ENSP00000356923:R276W;ENSP00000356922:R269W|ENSP00000356925:S324L;ENSP00000375999:S324L	ENSP00000356922:R269W|ENSP00000356925:S324L	R|S	+|+	1|2	2|0	FCRLB|FCRLB	159963766|159963766	0.616000|0.616000	0.27035|0.27035	0.505000|0.505000	0.27651|0.27651	0.853000|0.853000	0.48598|0.48598	0.659000|0.659000	0.24994|0.24994	2.195000|2.195000	0.70347|0.70347	0.455000|0.455000	0.32223|0.32223	CGG|TCG		0.721	FCRLB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083585.1	NM_152378		3	58	0	0	0	1	0	3	58					T	161697142	C	T	161697142	3	4	142	1	0	0	0	0	1	0	0	0	5801	893	31	2	993	2	FCRLB	1	161697142	Missense_Mutation	SNP	C	TCGA-FC-7961-01A-11D-A29Q-08	3091440	161697142	87553479	8	7073											
ZNF281	23528	broad.mit.edu	37	chr1	200376763	200376763	+	Missense_Mutation	SNP	G	G	C																															tgaagacaaactgacaaattGgaaaccgtgtccaagagtaa																										TCGA-FC-7961-01A-11D-A29Q-08	TCGA-FC-7961-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fdfbae-715d-4b84-9c40-5f5823a79bef	610916cc-7c38-42e8-8b8d-591284520b3e	g.chr1:200376763G>C	ENST00000294740.3	-	2	2195	c.2071C>G	c.(2071-2073)Caa>Gaa	p.Q691E	ZNF281_ENST00000367352.3_Missense_Mutation_p.Q655E|ZNF281_ENST00000367353.1_Missense_Mutation_p.Q691E	NM_001281293.1|NM_001281294.1|NM_012482.4	NP_001268222.1|NP_001268223.1|NP_036614.1	Q9Y2X9	ZN281_HUMAN	zinc finger protein 281	691					embryonic body morphogenesis (GO:0010172)|negative regulation of gene expression (GO:0010629)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|stem cell differentiation (GO:0048863)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	core promoter binding (GO:0001047)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)			breast(4)|endometrium(3)|kidney(3)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	27						CTGACAAATTGGAAACCGTGT	0.388																																						ENST00000294740.2																			0				breast(4)|endometrium(3)|kidney(3)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	27						c.(2071-2073)Caa>Gaa		zinc finger protein 281							131	143	139					1																	200376763		2203	4300	6503	SO:0001583	missense	23528				negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr1:200376763G>C	AF125158	CCDS1402.1, CCDS60384.1	1q32.1	2012-08-08			ENSG00000162702	ENSG00000162702		"Zinc fingers, C2H2-type"	13075	protein-coding gene	gene with protein product						10448078	Standard	NM_012482		Approved	ZBP-99	uc001gve.3	Q9Y2X9	OTTHUMG00000035724	ENST00000294740.3:c.2071C>G	1.37:g.200376763G>C	ENSP00000294740:p.Gln691Glu					ZNF281_ENST00000367352.3_Missense_Mutation_p.Q655E|ZNF281_ENST00000367353.1_Missense_Mutation_p.Q691E	p.Q691E	NM_012482.3	NP_036614.1	Q9Y2X9	ZN281_HUMAN			2	2195	-			691					A6NF48|B3KMX2|Q5RKW5|Q9NY92	Missense_Mutation	SNP	ENST00000294740.3	37	c.2071C>G	CCDS1402.1	.	.	.	.	.	.	.	.	.	.	G	16.36	3.101072	0.56183	.	.	ENSG00000162702	ENST00000294740;ENST00000367353;ENST00000367352;ENST00000537759	T;T;T	0.44083	0.93;0.93;0.93	5.54	5.54	0.83059	.	0.056520	0.64402	D	0.000001	T	0.42653	0.1212	L	0.51422	1.61	0.50632	D	0.999886	P;P	0.48764	0.915;0.915	B;B	0.40940	0.344;0.344	T	0.42999	-0.9418	10	0.52906	T	0.07	-2.5674	19.4807	0.95008	0.0:0.0:1.0:0.0	.	655;691	A6NF48;Q9Y2X9	.;ZN281_HUMAN	E	691;691;655;396	ENSP00000294740:Q691E;ENSP00000356322:Q691E;ENSP00000356321:Q655E	ENSP00000294740:Q691E	Q	-	1	0	ZNF281	198643386	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	5.003000	0.63959	2.597000	0.87782	0.655000	0.94253	CAA		0.388	ZNF281-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000086879.2	NM_012482		6	157	0	0	0	1	0	6	157					C	200376763	G	C	200376763	3	2	142	1	0	0	0	0	1	0	0	0	17815	1357	47	5	620	5	ZNF281	1	200376763	Missense_Mutation	SNP	G	TCGA-FC-7961-01A-11D-A29Q-08	38679621	200376763	48873858	9	7074	41	2									
ZNF281	23528	broad.mit.edu	37	chr1	200376772	200376772	+	Missense_Mutation	SNP	G	G	C																															actgacaaattggaaaccgtGtccaagagtaaaacttgcat																										TCGA-FC-7961-01A-11D-A29Q-08	TCGA-FC-7961-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fdfbae-715d-4b84-9c40-5f5823a79bef	610916cc-7c38-42e8-8b8d-591284520b3e	g.chr1:200376772G>C	ENST00000294740.3	-	2	2186	c.2062C>G	c.(2062-2064)Cac>Gac	p.H688D	ZNF281_ENST00000367352.3_Missense_Mutation_p.H652D|ZNF281_ENST00000367353.1_Missense_Mutation_p.H688D	NM_001281293.1|NM_001281294.1|NM_012482.4	NP_001268222.1|NP_001268223.1|NP_036614.1	Q9Y2X9	ZN281_HUMAN	zinc finger protein 281	688					embryonic body morphogenesis (GO:0010172)|negative regulation of gene expression (GO:0010629)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|stem cell differentiation (GO:0048863)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	core promoter binding (GO:0001047)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)			breast(4)|endometrium(3)|kidney(3)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	27						TGGAAACCGTGTCCAAGAGTA	0.393																																						ENST00000294740.2																			0				breast(4)|endometrium(3)|kidney(3)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	27						c.(2062-2064)Cac>Gac		zinc finger protein 281							133	146	141					1																	200376772		2203	4300	6503	SO:0001583	missense	23528				negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr1:200376772G>C	AF125158	CCDS1402.1, CCDS60384.1	1q32.1	2012-08-08			ENSG00000162702	ENSG00000162702		"Zinc fingers, C2H2-type"	13075	protein-coding gene	gene with protein product						10448078	Standard	NM_012482		Approved	ZBP-99	uc001gve.3	Q9Y2X9	OTTHUMG00000035724	ENST00000294740.3:c.2062C>G	1.37:g.200376772G>C	ENSP00000294740:p.His688Asp					ZNF281_ENST00000367352.3_Missense_Mutation_p.H652D|ZNF281_ENST00000367353.1_Missense_Mutation_p.H688D	p.H688D	NM_012482.3	NP_036614.1	Q9Y2X9	ZN281_HUMAN			2	2186	-			688					A6NF48|B3KMX2|Q5RKW5|Q9NY92	Missense_Mutation	SNP	ENST00000294740.3	37	c.2062C>G	CCDS1402.1	.	.	.	.	.	.	.	.	.	.	G	11.49	1.654816	0.29425	.	.	ENSG00000162702	ENST00000294740;ENST00000367353;ENST00000367352;ENST00000537759	T;T;T	0.39229	1.09;1.09;1.09	5.54	5.54	0.83059	.	0.114504	0.64402	D	0.000007	T	0.28995	0.0720	N	0.08118	0	0.42869	D	0.994133	B;B	0.16166	0.016;0.016	B;B	0.15484	0.013;0.013	T	0.08597	-1.0714	10	0.52906	T	0.07	-3.3781	19.4807	0.95008	0.0:0.0:1.0:0.0	.	652;688	A6NF48;Q9Y2X9	.;ZN281_HUMAN	D	688;688;652;393	ENSP00000294740:H688D;ENSP00000356322:H688D;ENSP00000356321:H652D	ENSP00000294740:H688D	H	-	1	0	ZNF281	198643395	1.000000	0.71417	0.787000	0.31911	0.875000	0.50365	9.183000	0.94887	2.597000	0.87782	0.655000	0.94253	CAC		0.393	ZNF281-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000086879.2	NM_012482		7	163	0	0	0	1	0	7	163					C	200376772	G	C	200376772	3	2	142	1	0	0	0	0	1	0	0	0	17815	1377	48	5	629	5	ZNF281	1	200376772	Missense_Mutation	SNP	G	TCGA-FC-7961-01A-11D-A29Q-08	9	200376772	48873849	10	7075	41	2									
CSRP1	1465	broad.mit.edu	37	chr1	201453913	201453913	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggcccgaagtttttagcataAcatcctgcagagagaggaga	13	8	12	8	1	0	3	0	0	0	3	1	6	1	3	2	2	3	3	2	2	3	4			TCGA-FC-7961-01A-11D-A29Q-08	TCGA-FC-7961-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fdfbae-715d-4b84-9c40-5f5823a79bef	610916cc-7c38-42e8-8b8d-591284520b3e	g.chr1:201453913A>G	ENST00000367306.1	-	7	873	c.510T>C	c.(508-510)tgT>tgC	p.C170C	CSRP1_ENST00000531916.1_Intron|CSRP1_ENST00000533432.1_Silent_p.C170C|CSRP1_ENST00000340006.2_Silent_p.C170C|CSRP1_ENST00000526723.1_Silent_p.C137C|CSRP1_ENST00000532460.1_Silent_p.C170C|CSRP1_ENST00000458271.2_5'Flank			P21291	CSRP1_HUMAN	cysteine and glycine-rich protein 1	170	LIM zinc-binding 2. {ECO:0000255|PROSITE- ProRule:PRU00125}.				platelet aggregation (GO:0070527)	extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			large_intestine(3)|lung(2)|ovary(1)	6						TTTTAGCATAACATCCTGCAG	0.592																																						ENST00000367306.1																			0				large_intestine(3)|lung(2)|ovary(1)	6						c.(508-510)tgT>tgC		cysteine and glycine-rich protein 1							82	83	83					1																	201453913		2203	4300	6503	SO:0001819	synonymous_variant	1465					nucleus	zinc ion binding	g.chr1:201453913A>G	M33146	CCDS1413.1	1q32	2008-02-05			ENSG00000159176	ENSG00000159176			2469	protein-coding gene	gene with protein product		123876		CYRP		2115670, 9925910	Standard	NM_004078		Approved	CSRP, D1S181E	uc021phh.1	P21291	OTTHUMG00000035773	ENST00000367306.1:c.510T>C	1.37:g.201453913A>G						CSRP1_ENST00000533432.1_Silent_p.C170C|CSRP1_ENST00000340006.2_Silent_p.C170C|CSRP1_ENST00000532460.1_Silent_p.C170C|CSRP1_ENST00000531916.1_Intron|CSRP1_ENST00000526723.1_Silent_p.C137C	p.C170C			P21291	CSRP1_HUMAN			7	873	-			170			LIM zinc-binding 2.		A8K268|Q5U0J2	Silent	SNP	ENST00000367306.1	37	c.510T>C	CCDS1413.1																																																																																				0.592	CSRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087027.1	NM_004078		6	26	0	0	0	1	0	6	26					G	201453913	A	G	201453913	2	3	142	1	0	0	0	0	0	0	0	1	3966	41	2	4		4	CSRP1	1	201453913	Silent	SNP	A	TCGA-FC-7961-01A-11D-A29Q-08	1077141	201453913	47796708	11	7076											
SPTBN1	6711	broad.mit.edu	37	chr2	54895540	54895540	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttccgccatctcctctgataAacacgaggtgtctgccagca	9	10	8	14	2	3	1	0	1	3	0	5	2	4	1	4	1	3	1	4	1	2	2			TCGA-FC-7961-01A-11D-A29Q-08	TCGA-FC-7961-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fdfbae-715d-4b84-9c40-5f5823a79bef	610916cc-7c38-42e8-8b8d-591284520b3e	g.chr2:54895540A>G	ENST00000356805.4	+	36	7210	c.6929A>G	c.(6928-6930)aAa>aGa	p.K2310R		NM_003128.2	NP_003119.2	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1	2310					actin filament capping (GO:0051693)|axon guidance (GO:0007411)|Golgi to plasma membrane protein transport (GO:0043001)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|plasma membrane organization (GO:0007009)|protein targeting to plasma membrane (GO:0072661)	axolemma (GO:0030673)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|protein complex (GO:0043234)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin binding (GO:0003779)|ankyrin binding (GO:0030506)|phospholipid binding (GO:0005543)|poly(A) RNA binding (GO:0044822)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	82			Lung(47;0.24)			TCCTCTGATAAACACGAGGTG	0.592																																						ENST00000356805.4																			0				NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	82						c.(6928-6930)aAa>aGa		spectrin, beta, non-erythrocytic 1							71	69	69					2																	54895540		2203	4300	6503	SO:0001583	missense	0				actin filament capping|axon guidance	cytosol|nucleolus|plasma membrane|sarcomere|spectrin	actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton	g.chr2:54895540A>G		CCDS33198.1, CCDS33199.1	2p21	2013-01-10			ENSG00000115306	ENSG00000115306		"Pleckstrin homology (PH) domain containing"	11275	protein-coding gene	gene with protein product		182790					Standard	NM_003128		Approved		uc002rxu.3	Q01082	OTTHUMG00000133746	ENST00000356805.4:c.6929A>G	2.37:g.54895540A>G	ENSP00000349259:p.Lys2310Arg						p.K2310R	NM_003128.2	NP_003119.2	Q01082	SPTB2_HUMAN	Lung(47;0.24)		36	7210	+			2310					B2RP63|O60837|Q16057|Q53R99|Q59ER3|Q8IX99	Missense_Mutation	SNP	ENST00000356805.4	37	c.6929A>G	CCDS33198.1	.	.	.	.	.	.	.	.	.	.	A	11.49	1.655304	0.29425	.	.	ENSG00000115306	ENST00000356805	T	0.29917	1.55	5.83	4.67	0.58626	.	0.060740	0.64402	N	0.000008	T	0.21307	0.0513	N	0.19112	0.55	0.80722	D	1	B;B	0.14438	0.006;0.01	B;B	0.16289	0.015;0.005	T	0.02417	-1.1162	10	0.36615	T	0.2	.	13.2179	0.59871	0.8672:0.1328:0.0:0.0	.	300;2310	B4DIF8;Q01082	.;SPTB2_HUMAN	R	2310	ENSP00000349259:K2310R	ENSP00000349259:K2310R	K	+	2	0	SPTBN1	54749044	0.313000	0.24554	0.008000	0.14137	0.957000	0.61999	2.654000	0.46699	1.022000	0.39626	0.533000	0.62120	AAA		0.592	SPTBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258115.3			27	59	0	0	0	1	0	27	59					G	54895540	A	G	54895540	3	3	142	1	0	0	0	0	1	0	0	0	15118	14	1	4	7267	4	SPTBN1	2	54895540	Missense_Mutation	SNP	A	TCGA-FC-7961-01A-11D-A29Q-08		54895540	188303833	12	7077											
SCN2A	6326	broad.mit.edu	37	chr2	166246006	166246006	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agtctcttatgagcccattaCgaccacgttgaaacgcaaac	13	9	7	12	3	1	2	0	2	1	0	2	3	1	2	2	0	4	2	2	0	4	3			TCGA-FC-7961-01A-11D-A29Q-08	TCGA-FC-7961-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fdfbae-715d-4b84-9c40-5f5823a79bef	610916cc-7c38-42e8-8b8d-591284520b3e	g.chr2:166246006C>T	ENST00000375437.2	+	27	5980	c.5690C>T	c.(5689-5691)aCg>aTg	p.T1897M	SCN2A_ENST00000375427.2_Missense_Mutation_p.T1897M|SCN2A_ENST00000283256.6_Missense_Mutation_p.T1897M|SCN2A_ENST00000357398.3_Missense_Mutation_p.T1897M	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	1897					intrinsic apoptotic signaling pathway in response to osmotic stress (GO:0008627)|membrane depolarization during action potential (GO:0086010)|myelination (GO:0042552)|neuron apoptotic process (GO:0051402)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon (GO:0030424)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intrinsic component of plasma membrane (GO:0031226)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|sodium channel complex (GO:0034706)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)|Propofol(DB00818)|Valproic Acid(DB00313)|Zonisamide(DB00909)	GAGCCCATTACGACCACGTTG	0.453																																						ENST00000357398.3																			0				NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118						c.(5689-5691)aCg>aTg		sodium channel, voltage-gated, type II, alpha subunit	Lamotrigine(DB00555)						90	83	85					2																	166246006		2203	4300	6503	SO:0001583	missense	6326				myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:166246006C>T	AB208888	CCDS33313.1, CCDS33314.1	2q24.3	2012-02-26	2007-01-23	2007-01-23	ENSG00000136531	ENSG00000136531		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10588	protein-coding gene	gene with protein product		182390	"sodium channel, voltage-gated, type II, alpha 2 polypeptide", "sodium channel, voltage-gated, type II, alpha 1 polypeptide"	SCN2A1, SCN2A2		1317301, 16382098	Standard	XM_005246753		Approved	Nav1.2, HBSCII, HBSCI	uc002ude.3	Q99250	OTTHUMG00000044172	ENST00000375437.2:c.5690C>T	2.37:g.166246006C>T	ENSP00000364586:p.Thr1897Met					SCN2A_ENST00000375427.2_Missense_Mutation_p.T1897M|SCN2A_ENST00000375437.2_Missense_Mutation_p.T1897M|SCN2A_ENST00000283256.6_Missense_Mutation_p.T1897M	p.T1897M			Q99250	SCN2A_HUMAN			27	5980	+			1897					A6NC14|A6NIQ5|Q14472|Q53T77|Q9BZC9|Q9BZD0	Missense_Mutation	SNP	ENST00000375437.2	37	c.5690C>T	CCDS33314.1	.	.	.	.	.	.	.	.	.	.	C	18.68	3.676648	0.67928	.	.	ENSG00000136531	ENST00000375437;ENST00000357398;ENST00000283256;ENST00000375427	D;D;D;D	0.96716	-4.1;-4.1;-4.1;-4.1	5.87	5.87	0.94306	.	0.000000	0.64402	D	0.000001	D	0.98308	0.9439	M	0.84082	2.675	0.80722	D	1	D;D	0.89917	0.998;1.0	D;D	0.91635	0.924;0.999	D	0.98745	1.0718	10	0.87932	D	0	.	20.2011	0.98259	0.0:1.0:0.0:0.0	.	1897;1897	Q99250-2;Q99250	.;SCN2A_HUMAN	M	1897	ENSP00000364586:T1897M;ENSP00000349973:T1897M;ENSP00000283256:T1897M;ENSP00000364576:T1897M	ENSP00000283256:T1897M	T	+	2	0	SCN2A	165954252	1.000000	0.71417	0.791000	0.31998	0.981000	0.71138	7.782000	0.85680	2.785000	0.95823	0.585000	0.79938	ACG		0.453	SCN2A-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000102659.2	NM_021007		9	40	0	0	0	1	0	9	40					T	166246006	C	T	166246006	3	4	142	1	0	0	0	0	1	0	0	0	13916	536	19	1	5888	1	SCN2A	2	166246006	Missense_Mutation	SNP	C	TCGA-FC-7961-01A-11D-A29Q-08	111350466	166246006	76953367	13	7078											
BARD1	580	broad.mit.edu	37	chr2	215645757	215645757	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ctctatttgctcagccaatgGtaaagagacttcagttaaac	13	12	7	9	0	3	1	2	0	1	1	3	2	3	1	1	1	3	3	1	1	6	5	rs200059956		TCGA-FC-7961-01A-11D-A29Q-08	TCGA-FC-7961-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fdfbae-715d-4b84-9c40-5f5823a79bef	610916cc-7c38-42e8-8b8d-591284520b3e	g.chr2:215645757G>A	ENST00000260947.4	-	4	975	c.841C>T	c.(841-843)Cca>Tca	p.P281S	BARD1_ENST00000471787.1_5'UTR|BARD1_ENST00000449967.2_Missense_Mutation_p.P137S	NM_000465.2|NM_001282543.1|NM_001282545.1|NM_001282548.1	NP_000456.2|NP_001269472.1|NP_001269474.1|NP_001269477.1	Q99728	BARD1_HUMAN	BRCA1 associated RING domain 1	281					cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|negative regulation of apoptotic process (GO:0043066)|negative regulation of mRNA 3'-end processing (GO:0031441)|negative regulation of protein export from nucleus (GO:0046826)|positive regulation of apoptotic process (GO:0043065)|positive regulation of protein catabolic process (GO:0045732)|protein K6-linked ubiquitination (GO:0085020)|protein ubiquitination (GO:0016567)|regulation of phosphorylation (GO:0042325)|tissue homeostasis (GO:0001894)	BRCA1-A complex (GO:0070531)|BRCA1-BARD1 complex (GO:0031436)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	kinase binding (GO:0019900)|ligase activity (GO:0016874)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|RNA binding (GO:0003723)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(2)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|prostate(4)|upper_aerodigestive_tract(1)	35		Renal(323;0.0243)		Epithelial(149;3.2e-06)|all cancers(144;0.000461)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		TCAGCCAATGGTAAAGAGACT	0.383									Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome																													ENST00000260947.4																			0				NS(2)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|prostate(4)|upper_aerodigestive_tract(1)	35						c.(841-843)Cca>Tca		BRCA1 associated RING domain 1							64	66	65					2																	215645757		2203	4298	6501	SO:0001583	missense	580	Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome	Familial Cancer Database	Familial Neuroblastoma;CCHS, Ondine Curse, incl. Ondine-Hirschsprung Disease	cell cycle arrest|DNA repair|negative regulation of apoptosis|negative regulation of mRNA 3'-end processing|negative regulation of protein export from nucleus|positive regulation of apoptosis|positive regulation of protein catabolic process|protein K6-linked ubiquitination|regulation of phosphorylation|tissue homeostasis	BRCA1-A complex|BRCA1-BARD1 complex|cytoplasm	kinase binding|protein heterodimerization activity|protein homodimerization activity|RNA binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr2:215645757G>A		CCDS2397.1, CCDS74645.1, CCDS74646.1, CCDS74647.1, CCDS74648.1	2q34-q35	2013-01-10			ENSG00000138376	ENSG00000138376		"Ankyrin repeat domain containing"	952	protein-coding gene	gene with protein product		601593				8944023, 9425226, 15159397	Standard	NM_001282548		Approved		uc002veu.2	Q99728	OTTHUMG00000133016	ENST00000260947.4:c.841C>T	2.37:g.215645757G>A	ENSP00000260947:p.Pro281Ser					BARD1_ENST00000449967.2_Missense_Mutation_p.P137S|BARD1_ENST00000471787.1_5'UTR	p.P281S	NM_000465.2	NP_000456.2	Q99728	BARD1_HUMAN		Epithelial(149;3.2e-06)|all cancers(144;0.000461)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)	4	975	-		Renal(323;0.0243)	281					F6MDH7|F6MDH8|F6MDH9|O43574|Q53SS5	Missense_Mutation	SNP	ENST00000260947.4	37	c.841C>T	CCDS2397.1	.	.	.	.	.	.	.	.	.	.	G	14.28	2.488124	0.44249	.	.	ENSG00000138376	ENST00000260947;ENST00000449967	T;T	0.72394	-0.65;0.03	5.62	4.72	0.59763	.	0.258113	0.32273	N	0.006330	T	0.58409	0.2120	M	0.67953	2.075	0.09310	N	1	P;P	0.39480	0.675;0.506	B;B	0.28553	0.091;0.051	T	0.56974	-0.7890	10	0.06625	T	0.88	-6.9067	12.3432	0.55105	0.1323:0.0:0.8677:0.0	.	137;281	E7EUI3;Q99728	.;BARD1_HUMAN	S	281;137	ENSP00000260947:P281S;ENSP00000406752:P137S	ENSP00000260947:P281S	P	-	1	0	BARD1	215354002	0.992000	0.36948	0.945000	0.38365	0.928000	0.56348	2.883000	0.48554	2.795000	0.96236	0.655000	0.94253	CCA		0.383	BARD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256602.1	NM_000465		20	45	0	0	0	1	0	20	45					A	215645757	G	A	215645757	3	1	142	1	0	0	0	0	1	0	0	0	1312	1261	44	3	1524	3	BARD1	2	215645757	Missense_Mutation	SNP	G	TCGA-FC-7961-01A-11D-A29Q-08	49399751	215645757	27553616	14	7079											
MTERFD2	130916	broad.mit.edu	37	chr2	242039186	242039186	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	taactcctcaatgacccctcCattggaggctgtagtcagtt	9	12	8	12	0	2	1	2	1	0	0	4	2	4	2	4	2	1	3	4	2	3	4			TCGA-FC-7961-01A-11D-A29Q-08	TCGA-FC-7961-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fdfbae-715d-4b84-9c40-5f5823a79bef	610916cc-7c38-42e8-8b8d-591284520b3e	g.chr2:242039186C>A	ENST00000391980.2	-	2	203	c.145G>T	c.(145-147)Gga>Tga	p.G49*	MTERFD2_ENST00000406593.1_Intron|MTERFD2_ENST00000407095.3_Nonsense_Mutation_p.G49*|MTERFD2_ENST00000495694.1_Nonsense_Mutation_p.G49*|MTERFD2_ENST00000464344.2_Intron	NM_182501.3	NP_872307.2	Q7Z6M4	MTEF4_HUMAN		49					rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|mitochondrial large ribosomal subunit (GO:0005762)|mitochondrion (GO:0005739)	rRNA binding (GO:0019843)			endometrium(3)|large_intestine(6)|lung(5)|ovary(1)|skin(2)|urinary_tract(3)	20		all_cancers(19;4.67e-31)|all_epithelial(40;8.67e-13)|Breast(86;0.000141)|Renal(207;0.00528)|Ovarian(221;0.104)|Esophageal squamous(248;0.131)|all_lung(227;0.17)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;2.47e-32)|all cancers(36;1.79e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.59e-14)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;2.81e-06)|Lung(119;0.000509)|LUSC - Lung squamous cell carcinoma(224;0.00442)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0886)		ATGACCCCTCCATTGGAGGCT	0.512																																						ENST00000391980.2																			0				endometrium(3)|large_intestine(6)|lung(5)|ovary(1)|skin(2)|urinary_tract(3)	20						c.(145-147)Gga>Tga		MTERF domain containing 2							73	73	73					2																	242039186		2203	4300	6503	SO:0001587	stop_gained	130916							g.chr2:242039186C>A																												ENST00000391980.2:c.145G>T	2.37:g.242039186C>A	ENSP00000375840:p.Gly49*					MTERFD2_ENST00000495694.1_Nonsense_Mutation_p.G49*|MTERFD2_ENST00000407095.3_Nonsense_Mutation_p.G49*|MTERFD2_ENST00000406593.1_Intron	p.G49*	NM_182501.3	NP_872307.2	Q7Z6M4	MTER2_HUMAN		Epithelial(32;2.47e-32)|all cancers(36;1.79e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.59e-14)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;2.81e-06)|Lung(119;0.000509)|LUSC - Lung squamous cell carcinoma(224;0.00442)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0886)	2	203	-		all_cancers(19;4.67e-31)|all_epithelial(40;8.67e-13)|Breast(86;0.000141)|Renal(207;0.00528)|Ovarian(221;0.104)|Esophageal squamous(248;0.131)|all_lung(227;0.17)|all_hematologic(139;0.182)|Melanoma(123;0.238)	49					A8K6K0|Q9P0E0	Nonsense_Mutation	SNP	ENST00000391980.2	37	c.145G>T	CCDS2544.1	.	.	.	.	.	.	.	.	.	.	C	17.43	3.387666	0.61956	.	.	ENSG00000122085	ENST00000495694;ENST00000401626;ENST00000391980;ENST00000424798;ENST00000407095;ENST00000434791	.	.	.	4.57	-2.56	0.06268	.	1.223890	0.06050	N	0.656468	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.31617	T	0.26	-0.1581	0.8676	0.01207	0.1507:0.2593:0.2964:0.2935	.	.	.	.	X	49;49;49;42;49;28	.	ENSP00000241527:G49X	G	-	1	0	MTERFD2	241687859	0.000000	0.05858	0.000000	0.03702	0.253000	0.25986	-0.725000	0.04942	-0.234000	0.09782	-0.229000	0.12294	GGA		0.512	MTERFD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323798.4			8	87	1	0	0.000157383	1	0.000171154	8	87					A	242039186	C	A	242039186	4	1	142	1	0	0	0	0	0	1	0	0	9920	603	21	5	1012	5	MTERFD2	2	242039186	Nonsense_Mutation	SNP	C	TCGA-FC-7961-01A-11D-A29Q-08	26393429	242039186	1160187	15	7080											
CAV3	859	broad.mit.edu	37	chr3	8787407	8787407	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tctgccacatctgggcggtgGtgccatgcattaagagctac	8	10	12	11	1	2	1	0	0	2	1	2	1	2	1	2	3	5	2	2	3	2	2	rs199476338		TCGA-FC-7961-01A-11D-A29Q-08	TCGA-FC-7961-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fdfbae-715d-4b84-9c40-5f5823a79bef	610916cc-7c38-42e8-8b8d-591284520b3e	g.chr3:8787407G>C	ENST00000343849.2	+	2	387	c.310G>C	c.(310-312)Gtg>Ctg	p.V104L	CAV3_ENST00000472766.1_Intron|CAV3_ENST00000397368.2_Missense_Mutation_p.V104L|SSUH2_ENST00000478513.1_5'Flank	NM_001234.4|NM_033337.2	NP_001225.1|NP_203123.1	P56539	CAV3_HUMAN	caveolin 3	104	Required for interaction with DAG1.				actin filament organization (GO:0007015)|cardiac muscle cell development (GO:0055013)|caveola assembly (GO:0070836)|cell differentiation (GO:0030154)|cell growth (GO:0016049)|cholesterol homeostasis (GO:0042632)|cytoplasmic microtubule organization (GO:0031122)|endocytosis (GO:0006897)|establishment of protein localization to plasma membrane (GO:0090002)|glucose homeostasis (GO:0042593)|heart trabecula formation (GO:0060347)|membrane raft organization (GO:0031579)|muscle cell cellular homeostasis (GO:0046716)|muscle organ development (GO:0007517)|myoblast fusion (GO:0007520)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of cardiac muscle hypertrophy (GO:0010614)|negative regulation of cell growth involved in cardiac muscle cell development (GO:0061052)|negative regulation of cell size (GO:0045792)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of nitric-oxide synthase activity (GO:0051001)|negative regulation of potassium ion transmembrane transport (GO:1901380)|negative regulation of potassium ion transmembrane transporter activity (GO:1901017)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein localization to cell surface (GO:2000009)|negative regulation of sarcomere organization (GO:0060299)|nucleus localization (GO:0051647)|plasma membrane organization (GO:0007009)|plasma membrane repair (GO:0001778)|positive regulation of caveolin-mediated endocytosis (GO:2001288)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of myotube differentiation (GO:0010831)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|protein localization (GO:0008104)|protein localization to plasma membrane (GO:0072659)|regulation of branching involved in mammary gland duct morphogenesis (GO:0060762)|regulation of calcium ion import (GO:0090279)|regulation of calcium ion transmembrane transporter activity (GO:1901019)|regulation of cardiac muscle contraction (GO:0055117)|regulation of heart contraction (GO:0008016)|regulation of heart rate (GO:0002027)|regulation of membrane depolarization during cardiac muscle cell action potential (GO:1900825)|regulation of membrane potential (GO:0042391)|regulation of nerve growth factor receptor activity (GO:0051394)|regulation of p38MAPK cascade (GO:1900744)|regulation of protein kinase B signaling (GO:0051896)|regulation of signal transduction by receptor internalization (GO:0038009)|regulation of skeletal muscle contraction (GO:0014819)|regulation of sodium ion transmembrane transporter activity (GO:2000649)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|regulation of ventricular cardiac muscle cell membrane depolarization (GO:0060373)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|T-tubule organization (GO:0033292)|triglyceride metabolic process (GO:0006641)|ventricular cardiac muscle cell action potential (GO:0086005)	caveola (GO:0005901)|cell surface (GO:0009986)|dystrophin-associated glycoprotein complex (GO:0016010)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|membrane raft (GO:0045121)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	calcium channel regulator activity (GO:0005246)|connexin binding (GO:0071253)|ion channel binding (GO:0044325)|potassium channel inhibitor activity (GO:0019870)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|protein complex scaffold (GO:0032947)|sodium channel regulator activity (GO:0017080)			breast(1)|kidney(2)|large_intestine(4)|lung(3)|prostate(1)	11						CTGGGCGGTGGTGCCATGCAT	0.607																																						ENST00000343849.2																			0				breast(1)|kidney(2)|large_intestine(4)|lung(3)|prostate(1)	11						c.(310-312)Gtg>Ctg		caveolin 3							137	105	115					3																	8787407		2203	4300	6503	SO:0001583	missense	859				cell growth|elevation of cytosolic calcium ion concentration|muscle organ development|negative regulation of cardiac muscle hypertrophy|negative regulation of cell size|negative regulation of MAP kinase activity|negative regulation of sarcomere organization|positive regulation of microtubule polymerization|regulation of skeletal muscle contraction|regulation of ventricular cardiomyocyte membrane repolarization|T-tubule organization	caveola|dystrophin-associated glycoprotein complex|Golgi membrane|neuromuscular junction|T-tubule	protein C-terminus binding|protein complex binding|protein complex scaffold|sodium channel regulator activity	g.chr3:8787407G>C	AF043101	CCDS2569.1	3p25	2014-09-17			ENSG00000182533	ENSG00000182533			1529	protein-coding gene	gene with protein product	"M-caveolin"	601253				9536092, 9537420	Standard	NM_033337		Approved	VIP-21, LGMD1C, VIP21, LQT9	uc003brb.3	P56539	OTTHUMG00000090519	ENST00000343849.2:c.310G>C	3.37:g.8787407G>C	ENSP00000341940:p.Val104Leu					CAV3_ENST00000472766.1_Intron|CAV3_ENST00000397368.2_Missense_Mutation_p.V104L	p.V104L	NM_001234.4|NM_033337.2	NP_001225.1|NP_203123.1	P56539	CAV3_HUMAN			2	387	+			104			Required for interaction with DAG1.		A8K777|Q3T1A4	Missense_Mutation	SNP	ENST00000343849.2	37	c.310G>C	CCDS2569.1	.	.	.	.	.	.	.	.	.	.	G	23.3	4.404094	0.83230	.	.	ENSG00000182533	ENST00000343849;ENST00000397368	D;D	0.92858	-3.12;-3.12	4.79	4.79	0.61399	.	0.060431	0.64402	D	0.000003	D	0.94971	0.8373	M	0.87180	2.865	0.80722	D	1	P	0.40107	0.703	P	0.49597	0.616	D	0.94426	0.7645	10	0.36615	T	0.2	1.8431	16.5605	0.84565	0.0:0.0:1.0:0.0	.	104	P56539	CAV3_HUMAN	L	104	ENSP00000341940:V104L;ENSP00000380525:V104L	ENSP00000341940:V104L	V	+	1	0	CAV3	8762407	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	4.818000	0.62657	2.472000	0.83506	0.491000	0.48974	GTG		0.607	CAV3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207008.2	NM_033337		7	51	0	0	0	1	0	7	51					C	8787407	G	C	8787407	3	2	142	1	0	0	0	0	1	0	0	0	2695	1261	44	5	316	5	CAV3	3	8787407	Missense_Mutation	SNP	G	TCGA-FC-7961-01A-11D-A29Q-08		8787407	189235023	16	7081											
BRPF1	7862	broad.mit.edu	37	chr3	9783062	9783063	+	Frame_Shift_Ins	INS	-	-	G																															cagcggctccggcatgacttINSggagcgagctcggctgctcg																										TCGA-FC-7961-01A-11D-A29Q-08	TCGA-FC-7961-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fdfbae-715d-4b84-9c40-5f5823a79bef	610916cc-7c38-42e8-8b8d-591284520b3e	g.chr3:9783062_9783063insG	ENST00000457855.1	+	4	1804_1805	c.1793_1794insG	c.(1792-1797)ttggagfs	p.E599fs	BRPF1_ENST00000424362.1_Frame_Shift_Ins_p.E599fs|BRPF1_ENST00000302054.3_Frame_Shift_Ins_p.E599fs|BRPF1_ENST00000383829.2_Frame_Shift_Ins_p.E599fs|BRPF1_ENST00000433861.2_Frame_Shift_Ins_p.E599fs			P55201	BRPF1_HUMAN	bromodomain and PHD finger containing, 1	599	Interaction with MEAF6 and ING5.|Required for RUNX1 and RUNX2 transcriptional activation.				chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	49	Medulloblastoma(99;0.227)					CGGCATGACTTGGAGCGAGCTC	0.51																																						ENST00000383829.2																			0				central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	49						c.(1792-1794)tgafs		bromodomain and PHD finger containing, 1																																				SO:0001589	frameshift_variant	7862				histone H3 acetylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|MOZ/MORF histone acetyltransferase complex|plasma membrane	DNA binding|zinc ion binding	g.chr3:9783062_9783063insG	M91585	CCDS2575.1, CCDS33692.1	3p26-p25	2008-07-18			ENSG00000156983	ENSG00000156983			14255	protein-coding gene	gene with protein product	"peregrin", "bromodomain-containing protein, 140kD"	602410				8946209, 7906940	Standard	NM_001003694		Approved	BR140	uc003bsf.3	P55201	OTTHUMG00000097033	ENST00000457855.1:c.1795dupG	3.37:g.9783064_9783064dupG	ENSP00000410210:p.Glu599fs					BRPF1_ENST00000302054.3_Frame_Shift_Ins_p.*598fs|BRPF1_ENST00000433861.2_Frame_Shift_Ins_p.*598fs|BRPF1_ENST00000457855.1_Frame_Shift_Ins_p.*598fs|BRPF1_ENST00000424362.1_Frame_Shift_Ins_p.*598fs	p.*598fs	NM_001003694.1	NP_001003694.1	P55201	BRPF1_HUMAN			5	2197_2198	+	Medulloblastoma(99;0.227)		598			Interaction with MEAF6 and ING5.|Required for RUNX1 and RUNX2 transcriptional activation.		B4DEZ6|Q7Z6E0|Q8TCM6|Q9UHI0	Frame_Shift_Ins	INS	ENST00000457855.1	37	c.1793_1794insG	CCDS2575.1																																																																																				0.51	BRPF1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000338485.1	NM_001003694		50	87						50	87	---	---	---	---	G	9783063	-	G	9783062	7	5	142	1	0	1	1	0	0	0	0	0	1520	1821	63	0	1807	0	BRPF1	3	9783062	Frame_Shift_Ins	INS	-	TCGA-FC-7961-01A-11D-A29Q-08	995655	9783062	188239368	17	7082											
NKTR	4820	broad.mit.edu	37	chr3	42684054	42684054	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagaggccgaaccagaagcCggagcagttcctaccggagt	11	4	14	12	3	0	2	0	0	0	2	1	5	1	4	5	3	4	3	5	3	3	2			TCGA-FC-7961-01A-11D-A29Q-08	TCGA-FC-7961-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fdfbae-715d-4b84-9c40-5f5823a79bef	610916cc-7c38-42e8-8b8d-591284520b3e	g.chr3:42684054C>T	ENST00000232978.8	+	14	4296	c.4108C>T	c.(4108-4110)Cgg>Tgg	p.R1370W	RP4-613B23.1_ENST00000438017.1_RNA|RP4-613B23.1_ENST00000434363.1_RNA|RP4-613B23.1_ENST00000445452.1_RNA	NM_005385.3	NP_005376.2	P30414	NKTR_HUMAN	natural killer cell triggering receptor	1370					protein folding (GO:0006457)	membrane (GO:0016020)	cyclosporin A binding (GO:0016018)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	41				KIRC - Kidney renal clear cell carcinoma(284;0.24)		AACCAGAAGCCGGAGCAGTTC	0.438																																						ENST00000232978.8																			0				breast(3)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	41						c.(4108-4110)Cgg>Tgg		natural killer-tumor recognition sequence							104	100	101					3																	42684054		2203	4300	6503	SO:0001583	missense	4820				protein folding	membrane	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity	g.chr3:42684054C>T		CCDS2702.1	3p22.1	2014-01-20	2014-01-20		ENSG00000114857	ENSG00000114857			7833	protein-coding gene	gene with protein product	"NK-tumor recognition protein", "natural-killer cells cyclophilin-related protein", "NK-TR protein"	161565	"natural killer-tumor recognition sequence"			8314596, 8144875	Standard	XM_005265173		Approved	p104	uc003clo.3	P30414	OTTHUMG00000133037	ENST00000232978.8:c.4108C>T	3.37:g.42684054C>T	ENSP00000232978:p.Arg1370Trp					RP4-613B23.1_ENST00000445452.1_RNA|RP4-613B23.1_ENST00000434363.1_RNA|RP4-613B23.1_ENST00000438017.1_RNA	p.R1370W	NM_005385.3	NP_005376.2	P30414	NKTR_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.24)	14	4296	+			1370						Missense_Mutation	SNP	ENST00000232978.8	37	c.4108C>T	CCDS2702.1	.	.	.	.	.	.	.	.	.	.	C	17.54	3.414799	0.62511	.	.	ENSG00000114857	ENST00000232978	T	0.34859	1.34	5.49	4.61	0.57282	.	0.060947	0.64402	D	0.000002	T	0.59985	0.2234	M	0.70275	2.135	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.985	T	0.65360	-0.6187	10	0.87932	D	0	-3.0641	15.6414	0.77006	0.1385:0.8615:0.0:0.0	.	1070;1370	Q6M1B8;P30414	.;NKTR_HUMAN	W	1370	ENSP00000232978:R1370W	ENSP00000232978:R1370W	R	+	1	2	NKTR	42659058	1.000000	0.71417	1.000000	0.80357	0.750000	0.42670	7.147000	0.77382	1.291000	0.44653	-0.182000	0.12963	CGG		0.438	NKTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256642.2	NM_005385		5	76	0	0	0	1	0	5	76					T	42684054	C	T	42684054	3	4	142	1	0	0	0	0	1	0	0	0	10448	643	23	2	4158	2	NKTR	3	42684054	Missense_Mutation	SNP	C	TCGA-FC-7961-01A-11D-A29Q-08	32900992	42684054	155338376	18	7083											
CCDC52	152185	broad.mit.edu	37	chr3	113172713	113172713	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatcaataggtaaggtcttcTcttcccaattttgttccttc	8	18	5	10	0	3	0	1	0	2	0	7	0	5	0	2	2	0	2	2	2	5	9			TCGA-FC-7961-01A-11D-A29Q-08	TCGA-FC-7961-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fdfbae-715d-4b84-9c40-5f5823a79bef	610916cc-7c38-42e8-8b8d-591284520b3e	g.chr3:113172713T>C	ENST00000295872.4	-	14	2001	c.1742A>G	c.(1741-1743)gAg>gGg	p.E581G		NM_144718.3	NP_653319.1	Q8N0Z3	SPICE_HUMAN	spindle and centriole associated protein 1	581					metaphase plate congression (GO:0051310)|regulation of centriole replication (GO:0046599)|spindle assembly involved in mitosis (GO:0090307)	centriole (GO:0005814)|centrosome (GO:0005813)|spindle (GO:0005819)				NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(3)|large_intestine(9)|lung(10)|ovary(2)|skin(2)|urinary_tract(1)	33						TAAGGTCTTCTCTTCCCAATT	0.403																																						ENST00000295872.4																			0				NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(3)|large_intestine(9)|lung(10)|ovary(2)|skin(2)|urinary_tract(1)	33						c.(1741-1743)gAg>gGg		spindle and centriole associated protein 1							92	96	95					3																	113172713		2203	4300	6503	SO:0001583	missense	152185				cell division|mitosis	centriole|spindle	protein binding	g.chr3:113172713T>C	AY099107	CCDS2973.1	3q13.2	2010-09-01	2010-09-01	2010-09-01	ENSG00000163611	ENSG00000163611			25083	protein-coding gene	gene with protein product	"spindle and centriole protein"	613447	"coiled-coil domain containing 52"	CCDC52		20736305	Standard	NM_144718		Approved	SPICE	uc003eag.4	Q8N0Z3	OTTHUMG00000159261	ENST00000295872.4:c.1742A>G	3.37:g.113172713T>C	ENSP00000295872:p.Glu581Gly						p.E581G	NM_144718.3	NP_653319.1	Q8N0Z3	SPICE_HUMAN			14	2001	-			581					D3DN72|Q8WUX6	Missense_Mutation	SNP	ENST00000295872.4	37	c.1742A>G	CCDS2973.1	.	.	.	.	.	.	.	.	.	.	T	12.72	2.022268	0.35701	.	.	ENSG00000163611	ENST00000295872	T	0.35789	1.29	5.53	3.17	0.36434	.	1.062460	0.07146	N	0.848312	T	0.25680	0.0625	N	0.19112	0.55	0.32950	D	0.519599	B;B	0.22146	0.065;0.027	B;B	0.19391	0.025;0.025	T	0.27226	-1.0080	10	0.59425	D	0.04	-1.4547	6.9526	0.24554	0.0:0.1809:0.0:0.8191	.	477;581	B3KX77;Q8N0Z3	.;SPICE_HUMAN	G	581	ENSP00000295872:E581G	ENSP00000295872:E581G	E	-	2	0	SPICE1	114655403	1.000000	0.71417	1.000000	0.80357	0.890000	0.51754	1.189000	0.32114	0.403000	0.25479	0.460000	0.39030	GAG		0.403	SPICE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354177.2	NM_144718		4	88	0	0	0	1	0	4	88					C	113172713	T	C	113172713	3	2	142	1	0	0	0	0	1	0	0	0	2822	1551	54	4	845	4	CCDC52	3	113172713	Missense_Mutation	SNP	T	TCGA-FC-7961-01A-11D-A29Q-08	70488659	113172713	84849717	19	7084											
ARHGAP31	57514	broad.mit.edu	37	chr3	119134256	119134256	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccctggagggtttactcccaGgacccccaggacctggacat	8	7	11	15	0	0	0	0	0	0	0	1	4	1	4	5	5	1	1	5	5	1	2			TCGA-FC-7961-01A-11D-A29Q-08	TCGA-FC-7961-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fdfbae-715d-4b84-9c40-5f5823a79bef	610916cc-7c38-42e8-8b8d-591284520b3e	g.chr3:119134256G>C	ENST00000264245.4	+	12	4012	c.3480G>C	c.(3478-3480)caG>caC	p.Q1160H		NM_020754.2	NP_065805.2	Q2M1Z3	RHG31_HUMAN	Rho GTPase activating protein 31	1160					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell junction (GO:0030054)|cytosol (GO:0005829)|lamellipodium (GO:0030027)	GTPase activator activity (GO:0005096)			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(3)|large_intestine(11)|lung(29)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	67						TTTACTCCCAGGACCCCCAGG	0.532																																					Pancreas(7;176 297 5394 51128 51241)	ENST00000264245.4																			0				breast(5)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(3)|large_intestine(11)|lung(29)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	67						c.(3478-3480)caG>caC		Rho GTPase activating protein 31							54	55	54					3																	119134256		1924	4122	6046	SO:0001583	missense	57514				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion|lamellipodium	GTPase activator activity	g.chr3:119134256G>C		CCDS43135.1	3q13.33	2011-06-29			ENSG00000031081	ENSG00000031081		"Rho GTPase activating proteins"	29216	protein-coding gene	gene with protein product		610911				9786927, 12819203, 16519628	Standard	NM_020754		Approved	CDGAP	uc003ecj.4	Q2M1Z3	OTTHUMG00000159362	ENST00000264245.4:c.3480G>C	3.37:g.119134256G>C	ENSP00000264245:p.Gln1160His						p.Q1160H	NM_020754.2	NP_065805.2	Q2M1Z3	RHG31_HUMAN			12	4012	+			1160					Q9ULL6	Missense_Mutation	SNP	ENST00000264245.4	37	c.3480G>C	CCDS43135.1	.	.	.	.	.	.	.	.	.	.	G	14.66	2.603110	0.46423	.	.	ENSG00000031081	ENST00000264245	T	0.06528	3.29	5.35	1.33	0.21861	.	0.428438	0.20736	N	0.086637	T	0.06280	0.0162	L	0.57536	1.79	0.28487	N	0.914643	B	0.10296	0.003	B	0.06405	0.002	T	0.23154	-1.0196	10	0.44086	T	0.13	.	3.3566	0.07171	0.351:0.0:0.3406:0.3084	.	1160	Q2M1Z3	RHG31_HUMAN	H	1160	ENSP00000264245:Q1160H	ENSP00000264245:Q1160H	Q	+	3	2	ARHGAP31	120616946	0.998000	0.40836	0.995000	0.50966	0.931000	0.56810	0.534000	0.23098	0.122000	0.18314	0.655000	0.94253	CAG		0.532	ARHGAP31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354942.2			25	35	0	0	0	1	0	25	35					C	119134256	G	C	119134256	3	2	142	1	0	0	0	0	1	0	0	0	880	991	35	5	3526	5	ARHGAP31	3	119134256	Missense_Mutation	SNP	G	TCGA-FC-7961-01A-11D-A29Q-08	5961543	119134256	78888174	20	7085											
CLCN3	1182	broad.mit.edu	37	chr4	170625290	170625290	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgaggtcggggctgattgcAttacacctggcctttatgcc	6	12	13	10	1	0	2	0	2	0	0	1	2	0	2	3	4	3	2	3	4	2	4			TCGA-FC-7961-01A-11D-A29Q-08	TCGA-FC-7961-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fdfbae-715d-4b84-9c40-5f5823a79bef	610916cc-7c38-42e8-8b8d-591284520b3e	g.chr4:170625290A>T	ENST00000513761.1	+	10	2264	c.1705A>T	c.(1705-1707)Att>Ttt	p.I569F	CLCN3_ENST00000347613.4_Missense_Mutation_p.I569F|CLCN3_ENST00000360642.3_Missense_Mutation_p.I542F|CLCN3_ENST00000504131.2_Missense_Mutation_p.I552F	NM_001829.3	NP_001820.2	P51790	CLCN3_HUMAN	chloride channel, voltage-sensitive 3	569					chloride transmembrane transport (GO:1902476)|endosomal lumen acidification (GO:0048388)|ion transmembrane transport (GO:0034220)|regulation of anion transport (GO:0044070)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|membrane (GO:0016020)|vesicle membrane (GO:0012506)	antiporter activity (GO:0015297)|ATP binding (GO:0005524)|chloride channel activity (GO:0005254)|PDZ domain binding (GO:0030165)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|voltage-gated chloride channel activity (GO:0005247)			breast(5)|endometrium(3)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	29		Prostate(90;0.00601)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0233)|LUSC - Lung squamous cell carcinoma(193;0.131)		GGCTGATTGCATTACACCTGG	0.517																																						ENST00000513761.1																			0				breast(5)|endometrium(3)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	29						c.(1705-1707)Att>Ttt		chloride channel, voltage-sensitive 3							242	205	217					4																	170625290		2203	4300	6503	SO:0001583	missense	0				endosomal lumen acidification	cell surface|early endosome membrane|Golgi membrane|integral to membrane|late endosome membrane|transport vesicle membrane	antiporter activity|ATP binding|PDZ domain binding|protein heterodimerization activity|protein homodimerization activity|voltage-gated chloride channel activity	g.chr4:170625290A>T	X78520	CCDS34100.1, CCDS34101.1, CCDS58932.1, CCDS75208.1	4q	2012-09-26	2012-02-23		ENSG00000109572	ENSG00000109572		"Ion channels / Chloride channels : Voltage-sensitive"	2021	protein-coding gene	gene with protein product		600580	"chloride channel 3"				Standard	NM_001243374		Approved	CLC3, ClC-3	uc003ish.3	P51790	OTTHUMG00000160973	ENST00000513761.1:c.1705A>T	4.37:g.170625290A>T	ENSP00000424603:p.Ile569Phe					CLCN3_ENST00000347613.4_Missense_Mutation_p.I569F|CLCN3_ENST00000360642.3_Missense_Mutation_p.I542F|CLCN3_ENST00000504131.2_Missense_Mutation_p.I552F	p.I569F	NM_001829.3	NP_001820.2	P51790	CLCN3_HUMAN		GBM - Glioblastoma multiforme(119;0.0233)|LUSC - Lung squamous cell carcinoma(193;0.131)	10	2264	+		Prostate(90;0.00601)|Renal(120;0.0183)	569					B7Z932|B9EGJ9|D3DP34|E9PB97|O14918|Q86Z21	Missense_Mutation	SNP	ENST00000513761.1	37	c.1705A>T	CCDS34101.1	.	.	.	.	.	.	.	.	.	.	A	27.4	4.826594	0.90955	.	.	ENSG00000109572	ENST00000513761;ENST00000347613;ENST00000360642;ENST00000504131;ENST00000507875	D;D;D;D;D	0.93604	-3.25;-3.25;-3.25;-3.25;-3.25	5.22	5.22	0.72569	Chloride channel, core (2);	0.043100	0.85682	D	0.000000	D	0.97259	0.9104	M	0.91818	3.245	0.80722	D	1	P;D;D;D;D	0.58970	0.925;0.984;0.957;0.972;0.965	D;D;D;D;D	0.72075	0.961;0.968;0.949;0.976;0.959	D	0.98227	1.0481	10	0.87932	D	0	-5.9402	15.4441	0.75216	1.0:0.0:0.0:0.0	.	542;552;542;569;569	B7Z932;B9EGJ9;E9PE15;P51790;P51790-2	.;.;.;CLCN3_HUMAN;.	F	569;569;542;552;542	ENSP00000424603:I569F;ENSP00000261514:I569F;ENSP00000353857:I542F;ENSP00000424540:I552F;ENSP00000425323:I542F	ENSP00000261514:I569F	I	+	1	0	CLCN3	170861865	1.000000	0.71417	0.997000	0.53966	0.936000	0.57629	6.258000	0.72487	2.113000	0.64589	0.449000	0.29647	ATT		0.517	CLCN3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000363210.2			4	51	0	0	0	1	0	4	51					T	170625290	A	T	170625290	3	4	142	1	0	0	0	0	1	0	0	0	3464	217	8	5	1739	5	CLCN3	4	170625290	Missense_Mutation	SNP	A	TCGA-FC-7961-01A-11D-A29Q-08		170625290	20528986	21	7086											
ANKRD55	79722	broad.mit.edu	37	chr5	55422829	55422829	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atatcgctgaagcccgctgcCgctgcgatatgtacacatgt	9	10	10	12	4	0	1	0	1	0	0	1	2	0	1	2	0	4	4	2	0	4	3	rs376402466		TCGA-FC-7961-01A-11D-A29Q-08	TCGA-FC-7961-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fdfbae-715d-4b84-9c40-5f5823a79bef	610916cc-7c38-42e8-8b8d-591284520b3e	g.chr5:55422829C>T	ENST00000341048.4	-	8	868	c.717G>A	c.(715-717)gcG>gcA	p.A239A	ANKRD55_ENST00000504958.2_Silent_p.A196A|RNU6-299P_ENST00000517223.1_RNA|ANKRD55_ENST00000505970.2_Intron	NM_024669.2	NP_078945.2	Q3KP44	ANR55_HUMAN	ankyrin repeat domain 55	239										breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(1)	34		Lung NSC(810;8.69e-05)|Prostate(74;0.00634)|Breast(144;0.0334)|Ovarian(174;0.223)				AGCCCGCTGCCGCTGCGATAT	0.493																																						ENST00000341048.4																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(1)	34						c.(715-717)gcG>gcA		ankyrin repeat domain 55		C		0,4406		0,0,2203	131	125	127		717	-11.2	0	5		127	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	ANKRD55	NM_024669.2		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		239/615	55422829	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	79722							g.chr5:55422829C>T	AK021857	CCDS34161.1	5q11.2	2013-01-10			ENSG00000164512	ENSG00000164512		"Ankyrin repeat domain containing"	25681	protein-coding gene	gene with protein product		615189					Standard	XM_005248599		Approved	FLJ11795	uc003jqu.3	Q3KP44	OTTHUMG00000162305	ENST00000341048.4:c.717G>A	5.37:g.55422829C>T						ANKRD55_ENST00000505970.2_Intron|ANKRD55_ENST00000504958.2_Silent_p.A196A	p.A239A	NM_024669.2	NP_078945.2	Q3KP44	ANR55_HUMAN			8	868	-		Lung NSC(810;8.69e-05)|Prostate(74;0.00634)|Breast(144;0.0334)|Ovarian(174;0.223)	238					B3KVT8|Q3KP45|Q9HAD3	Silent	SNP	ENST00000341048.4	37	c.717G>A	CCDS34161.1																																																																																				0.493	ANKRD55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368510.4	NM_024669		4	124	0	0	0	1	0	4	124					T	55422829	C	T	55422829	2	4	142	1	0	0	0	0	0	0	0	1	681	639	23	2		2	ANKRD55	5	55422829	Silent	SNP	C	TCGA-FC-7961-01A-11D-A29Q-08		55422829	125492431	22	7087											
PCDHA12	56137	broad.mit.edu	37	chr5	140257020	140257020	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tggtgctggtgaaggaccacGgtgagcccgcgctgacgtcc	6	7	16	12	4	0	3	0	3	0	0	1	4	1	4	3	4	2	2	3	4	1	0			TCGA-FC-7961-01A-11D-A29Q-08	TCGA-FC-7961-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fdfbae-715d-4b84-9c40-5f5823a79bef	610916cc-7c38-42e8-8b8d-591284520b3e	g.chr5:140257020G>A	ENST00000398631.2	+	1	1963	c.1963G>A	c.(1963-1965)Ggt>Agt	p.G655S	PCDHA8_ENST00000531613.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA7_ENST00000525929.1_Intron	NM_018903.2|NM_031864.2	NP_061726.1|NP_114070.1	Q9UN75	PCDAC_HUMAN	protocadherin alpha 12	655	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(4)|breast(2)|cervix(1)|endometrium(19)|kidney(8)|large_intestine(8)|liver(2)|lung(25)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAAGGACCACGGTGAGCCCGC	0.687																																					Pancreas(113;759 1672 13322 24104 50104)	ENST00000398631.2																			0				NS(4)|breast(2)|cervix(1)|endometrium(19)|kidney(8)|large_intestine(8)|liver(2)|lung(25)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	78						c.(1963-1965)Ggt>Agt									86	87	87					5																	140257020		2203	4299	6502	SO:0001583	missense	0							g.chr5:140257020G>A	AF152477	CCDS47285.1, CCDS75327.1	5q31	2010-11-26			ENSG00000251664	ENSG00000251664		"Cadherins / Protocadherins : Clustered"	8666	other	complex locus constituent	"KIAA0345-like 2"	606318				10380929	Standard	NM_018903		Approved	PCDH-ALPHA12	uc003lic.2	Q9UN75	OTTHUMG00000163366	ENST00000398631.2:c.1963G>A	5.37:g.140257020G>A	ENSP00000381628:p.Gly655Ser					PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA8_ENST00000531613.1_Intron	p.G655S	NM_018903.2|NM_031864.1	NP_061726.1|NP_114070.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1963	+								O75278|Q2M1N8	Missense_Mutation	SNP	ENST00000398631.2	37	c.1963G>A	CCDS47285.1	.	.	.	.	.	.	.	.	.	.	G	17.53	3.411655	0.62399	.	.	ENSG00000251664	ENST00000398631	T	0.48522	0.81	4.81	4.81	0.61882	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.78355	0.4270	H	0.95504	3.68	0.43698	D	0.996158	D;D	0.89917	1.0;1.0	D;D	0.80764	0.994;0.994	D	0.86045	0.1522	9	0.87932	D	0	.	17.4901	0.87701	0.0:0.0:1.0:0.0	.	655;655	Q9UN75-2;Q9UN75	.;PCDAC_HUMAN	S	655	ENSP00000381628:G655S	ENSP00000381628:G655S	G	+	1	0	PCDHA12	140237204	1.000000	0.71417	0.980000	0.43619	0.030000	0.12068	9.096000	0.94182	2.213000	0.71641	0.561000	0.74099	GGT		0.687	PCDHA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372882.2	NM_018903		4	81	0	0	0	1	0	4	81					A	140257020	G	A	140257020	3	1	142	1	0	0	0	0	1	0	0	0	11522	1116	39	2	1965	2	PCDHA12	5	140257020	Missense_Mutation	SNP	G	TCGA-FC-7961-01A-11D-A29Q-08	84834191	140257020	40658240	23	7088											
PCDHB6	56130	broad.mit.edu	37	chr5	140531641	140531641	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggccagaacgcctggctgtcGtaccagctgctcaaggccac	8	6	12	15	2	1	1	1	0	0	1	2	1	1	1	4	3	4	4	4	3	3	1			TCGA-FC-7961-01A-11D-A29Q-08	TCGA-FC-7961-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fdfbae-715d-4b84-9c40-5f5823a79bef	610916cc-7c38-42e8-8b8d-591284520b3e	g.chr5:140531641G>A	ENST00000231136.1	+	1	1803	c.1803G>A	c.(1801-1803)tcG>tcA	p.S601S	PCDHB6_ENST00000543635.1_Silent_p.S465S	NM_018939.2	NP_061762.1	Q9Y5E3	PCDB6_HUMAN	protocadherin beta 6	601	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCTGGCTGTCGTACCAGCTGC	0.716																																						ENST00000231136.1																			0				cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84						c.(1801-1803)tcG>tcA									13	17	16					5																	140531641		1880	3874	5754	SO:0001819	synonymous_variant	0				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	g.chr5:140531641G>A	AF152499	CCDS4248.1	5q31	2010-01-26			ENSG00000113211	ENSG00000113211		"Cadherins / Protocadherins : Clustered"	8691	other	protocadherin		606332				10380929	Standard	NM_018939		Approved	PCDH-BETA6	uc003lir.3	Q9Y5E3	OTTHUMG00000129623	ENST00000231136.1:c.1803G>A	5.37:g.140531641G>A						PCDHB6_ENST00000543635.1_Silent_p.S465S	p.S601S	NM_018939.2	NP_061762.1	Q9Y5E3	PCDB6_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1803	+			601			Cadherin 6.		B2R8R9	Silent	SNP	ENST00000231136.1	37	c.1803G>A	CCDS4248.1																																																																																				0.716	PCDHB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251818.2	NM_018939		23	75	0	0	0	1	0	23	75					A	140531641	G	A	140531641	2	1	142	1	0	0	0	0	0	0	0	1	11546	1132	40	1		1	PCDHB6	5	140531641	Silent	SNP	G	TCGA-FC-7961-01A-11D-A29Q-08	274621	140531641	40383619	24	7089											
PCDHGA9	56107	broad.mit.edu	37	chr5	140784549	140784549	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catcctggctgacctgggcaGtcttcagatccctgcagacc	7	9	10	15	0	2	3	1	1	1	2	4	3	4	3	4	2	1	3	4	2	0	1			TCGA-FC-7961-01A-11D-A29Q-08	TCGA-FC-7961-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fdfbae-715d-4b84-9c40-5f5823a79bef	610916cc-7c38-42e8-8b8d-591284520b3e	g.chr5:140784549G>T	ENST00000573521.1	+	1	2030	c.2030G>T	c.(2029-2031)aGt>aTt	p.S677I	PCDHGA3_ENST00000253812.6_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA8_ENST00000398604.2_Intron	NM_018921.2|NM_032089.1	NP_061744.1|NP_114478.1	Q9Y5G4	PCDG9_HUMAN	protocadherin gamma subfamily A, 9	677	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GACCTGGGCAGTCTTCAGATC	0.592																																						ENST00000573521.1																			0				endometrium(1)|kidney(1)|lung(3)	5						c.(2029-2031)aGt>aTt									97	108	104					5																	140784549		2183	4294	6477	SO:0001583	missense	0							g.chr5:140784549G>T	AF152516	CCDS58981.1, CCDS75341.1	5q31	2010-01-26						"Cadherins / Protocadherins : Clustered"	8707	other	protocadherin		606296				10380929	Standard	NM_018921		Approved	PCDH-GAMMA-A9		Q9Y5G4		ENST00000573521.1:c.2030G>T	5.37:g.140784549G>T	ENSP00000460274:p.Ser677Ile					PCDHGA8_ENST00000398604.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB2_ENST00000522605.1_Intron	p.S677I	NM_018921.2|NM_032089.1	NP_061744.1|NP_114478.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2030	+								A2RU65|Q9Y5C9	Missense_Mutation	SNP	ENST00000573521.1	37	c.2030G>T	CCDS58981.1																																																																																				0.592	PCDHGA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437105.1	NM_018921		18	118	1	0	2.21704e-12	1	2.60651e-12	18	118					T	140784549	G	T	140784549	3	4	142	1	0	0	0	0	1	0	0	0	11561	1029	36	5	2032	5	PCDHGA9	5	140784549	Missense_Mutation	SNP	G	TCGA-FC-7961-01A-11D-A29Q-08	252908	140784549	40130711	25	7090											
SLC26A2	1836	broad.mit.edu	37	chr5	149359955	149359955	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctccttcactattcttacaTctcaggccaagtatcttctt	8	16	3	14	0	5	0	2	0	4	0	7	0	6	0	3	1	1	1	3	1	4	7			TCGA-FC-7961-01A-11D-A29Q-08	TCGA-FC-7961-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fdfbae-715d-4b84-9c40-5f5823a79bef	610916cc-7c38-42e8-8b8d-591284520b3e	g.chr5:149359955T>A	ENST00000286298.4	+	3	1067	c.799T>A	c.(799-801)Tct>Act	p.S267T		NM_000112.3	NP_000103.2	P50443	S26A2_HUMAN	solute carrier family 26 (anion exchanger), member 2	267					3'-phosphoadenosine 5'-phosphosulfate biosynthetic process (GO:0050428)|3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|ion transport (GO:0006811)|ossification (GO:0001503)|small molecule metabolic process (GO:0044281)|sulfate transmembrane transport (GO:1902358)|sulfate transport (GO:0008272)|transmembrane transport (GO:0055085)|xenobiotic metabolic process (GO:0006805)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	secondary active sulfate transmembrane transporter activity (GO:0008271)|sulfate transmembrane transporter activity (GO:0015116)			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(1)|prostate(2)|stomach(1)	18			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			TATTCTTACATCTCAGGCCAA	0.473																																						ENST00000286298.4																			0				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(1)|prostate(2)|stomach(1)	18						c.(799-801)Tct>Act		solute carrier family 26 (anion exchanger), member 2							197	183	187					5																	149359955		2203	4300	6503	SO:0001583	missense	1836					integral to plasma membrane|membrane fraction	secondary active sulfate transmembrane transporter activity	g.chr5:149359955T>A	U14528	CCDS4300.1	5q31-q34	2014-09-17	2013-07-18		ENSG00000155850	ENSG00000155850		"Solute carriers"	10994	protein-coding gene	gene with protein product		606718	"solute carrier family 26 (sulfate transporter), member 2"	DTD		7923357	Standard	NM_000112		Approved	DTDST	uc003lrh.3	P50443	OTTHUMG00000130054	ENST00000286298.4:c.799T>A	5.37:g.149359955T>A	ENSP00000286298:p.Ser267Thr						p.S267T	NM_000112.3	NP_000103.2	P50443	S26A2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		3	1067	+			267					A8K2U3|B2R6J1|Q6N051	Missense_Mutation	SNP	ENST00000286298.4	37	c.799T>A	CCDS4300.1	.	.	.	.	.	.	.	.	.	.	T	16.72	3.201908	0.58234	.	.	ENSG00000155850	ENST00000286298	D	0.93076	-3.16	5.12	5.12	0.69794	Sulphate transporter (1);	0.000000	0.85682	D	0.000000	D	0.96417	0.8831	M	0.85299	2.745	0.40907	D	0.984206	D	0.76494	0.999	D	0.74348	0.983	D	0.97001	0.9729	10	0.72032	D	0.01	.	11.0391	0.47820	0.0:0.0:0.1556:0.8444	.	267	P50443	S26A2_HUMAN	T	267	ENSP00000286298:S267T	ENSP00000286298:S267T	S	+	1	0	SLC26A2	149340148	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.201000	0.72124	1.938000	0.56188	0.472000	0.43445	TCT		0.473	SLC26A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252333.2	NM_000112		4	133	0	0	0	1	0	4	133					A	149359955	T	A	149359955	3	1	142	1	0	0	0	0	1	0	0	0	14517	1435	50	5	805	5	SLC26A2	5	149359955	Missense_Mutation	SNP	T	TCGA-FC-7961-01A-11D-A29Q-08	8575406	149359955	31555305	26	7091											
CCDC99	54908	broad.mit.edu	37	chr5	169015536	169015536	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gagtcaaaatgaattacagaAtcaattggataaatgtcgta	18	11	8	4	1	2	2	2	1	0	1	3	4	2	3	0	1	1	1	0	1	9	4			TCGA-FC-7961-01A-11D-A29Q-08	TCGA-FC-7961-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fdfbae-715d-4b84-9c40-5f5823a79bef	610916cc-7c38-42e8-8b8d-591284520b3e	g.chr5:169015536A>T	ENST00000265295.4	+	2	395	c.116A>T	c.(115-117)aAt>aTt	p.N39I	SPDL1_ENST00000510751.1_3'UTR	NM_017785.4	NP_060255.3			spindle apparatus coiled-coil protein 1																		GAATTACAGAATCAATTGGAT	0.408																																						ENST00000265295.4																			0											c.(115-117)aAt>aTt		spindle apparatus coiled-coil protein 1							112	108	109					5																	169015536		2203	4300	6503	SO:0001583	missense	54908							g.chr5:169015536A>T	BC012568	CCDS4370.1	5q35.1	2012-09-27	2012-09-27	2012-09-27	ENSG00000040275	ENSG00000040275			26010	protein-coding gene	gene with protein product	"spindly homolog (Drosophila)"		"coiled-coil domain containing 99"	CCDC99		20427577	Standard	NM_017785		Approved	FLJ20364, hSpindly	uc003mae.4	Q96EA4	OTTHUMG00000130438	ENST00000265295.4:c.116A>T	5.37:g.169015536A>T	ENSP00000265295:p.Asn39Ile					SPDL1_ENST00000510751.1_3'UTR	p.N39I	NM_017785.4	NP_060255.3					2	395	+									Missense_Mutation	SNP	ENST00000265295.4	37	c.116A>T	CCDS4370.1	.	.	.	.	.	.	.	.	.	.	A	10.89	1.478077	0.26511	.	.	ENSG00000040275	ENST00000265295;ENST00000274631;ENST00000506574;ENST00000515224;ENST00000508247;ENST00000513941;ENST00000513795	T	0.35973	1.28	5.6	0.438	0.16560	.	0.467809	0.25975	N	0.027110	T	0.28101	0.0693	M	0.62723	1.935	0.35262	D	0.779684	B	0.13145	0.007	B	0.15484	0.013	T	0.11767	-1.0574	10	0.48119	T	0.1	-2.5824	2.4674	0.04556	0.6029:0.1408:0.1379:0.1184	.	39	Q96EA4	SPDLY_HUMAN	I	39	ENSP00000265295:N39I	ENSP00000265295:N39I	N	+	2	0	CCDC99	168948114	1.000000	0.71417	0.183000	0.23137	0.302000	0.27658	1.468000	0.35332	-0.081000	0.12662	0.533000	0.62120	AAT		0.408	SPDL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252829.2	NM_017785		15	42	0	0	0	1	0	15	42					T	169015536	A	T	169015536	3	4	142	1	0	0	0	0	1	0	0	0	2876	101	4	5	118	5	CCDC99	5	169015536	Missense_Mutation	SNP	A	TCGA-FC-7961-01A-11D-A29Q-08	19655581	169015536	11899724	27	7092											
HRH2	3274	broad.mit.edu	37	chr5	175110245	175110245	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tagagtcccaggatggcaccCaatggcacagcctcttcctt	9	9	9	14	0	1	1	0	0	1	1	3	2	3	2	4	3	1	2	4	3	2	3			TCGA-FC-7961-01A-11D-A29Q-08	TCGA-FC-7961-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fdfbae-715d-4b84-9c40-5f5823a79bef	610916cc-7c38-42e8-8b8d-591284520b3e	g.chr5:175110245C>A	ENST00000231683.2	+	1	1782	c.9C>A	c.(7-9)ccC>ccA	p.P3P	HRH2_ENST00000377291.2_Silent_p.P3P	NM_022304.2	NP_071640.1	P25021	HRH2_HUMAN	histamine receptor H2	3					digestive tract development (GO:0048565)|epithelial cell morphogenesis (GO:0003382)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|gastrin-induced gastric acid secretion (GO:0001698)|gland development (GO:0048732)|histamine-induced gastric acid secretion (GO:0001697)|immune response (GO:0006955)|memory (GO:0007613)|positive regulation of vasoconstriction (GO:0045907)|regulation of synaptic plasticity (GO:0048167)|visual learning (GO:0008542)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	histamine receptor activity (GO:0004969)			breast(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(10)|ovary(1)	22	all_cancers(89;0.00805)|Renal(175;0.000269)|Lung NSC(126;0.00419)|all_lung(126;0.00711)	Medulloblastoma(196;0.0208)|all_neural(177;0.0277)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)	Colorectal(1;0.0154)|COAD - Colon adenocarcinoma(1;0.149)	Amitriptyline(DB00321)|Asenapine(DB06216)|Betazole(DB00272)|Cimetidine(DB00501)|Doxepin(DB01142)|Epinastine(DB00751)|Famotidine(DB00927)|Histamine Phosphate(DB00667)|Loxapine(DB00408)|Methantheline(DB00940)|Nizatidine(DB00585)|Olanzapine(DB00334)|Ranitidine(DB00863)|Roxatidine acetate(DB08806)|Tolazoline(DB00797)	GGATGGCACCCAATGGCACAG	0.567																																						ENST00000231683.2																			0				breast(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(10)|ovary(1)	22						c.(7-9)ccC>ccA		histamine receptor H2	Betazole(DB00272)|Cimetidine(DB00501)|Doxepin(DB01142)|Epinastine(DB00751)|Famotidine(DB00927)|Histamine Phosphate(DB00667)|Nizatidine(DB00585)|Ranitidine(DB00863)						165	157	160					5																	175110245		2203	4300	6503	SO:0001819	synonymous_variant	0				G-protein signaling, coupled to cyclic nucleotide second messenger|immune response	integral to plasma membrane	histamine receptor activity	g.chr5:175110245C>A		CCDS4395.1, CCDS47344.1	5q35	2012-08-08			ENSG00000113749	ENSG00000113749		"GPCR / Class A : Histamine receptors"	5183	protein-coding gene	gene with protein product		142703				1714721	Standard	NM_022304		Approved		uc003mdc.4	P25021	OTTHUMG00000130660	ENST00000231683.2:c.9C>A	5.37:g.175110245C>A						HRH2_ENST00000377291.2_Silent_p.P3P	p.P3P	NM_022304.2	NP_071640.1	P25021	HRH2_HUMAN	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)	Colorectal(1;0.0154)|COAD - Colon adenocarcinoma(1;0.149)	1	1782	+	all_cancers(89;0.00805)|Renal(175;0.000269)|Lung NSC(126;0.00419)|all_lung(126;0.00711)	Medulloblastoma(196;0.0208)|all_neural(177;0.0277)|all_hematologic(541;0.214)	3					B5BUP7|Q14464|Q7Z5R9	Silent	SNP	ENST00000231683.2	37	c.9C>A	CCDS4395.1																																																																																				0.567	HRH2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253151.1			5	236	1	0	1	1	1	5	236					A	175110245	C	A	175110245	2	1	142	1	0	0	0	0	0	0	0	1	7356	581	21	5		5	HRH2	5	175110245	Silent	SNP	C	TCGA-FC-7961-01A-11D-A29Q-08	6094709	175110245	5805015	28	7093											
TMED9	54732	broad.mit.edu	37	chr5	177019240	177019240	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctgtggagctgggcgtgctgCtcgtccggccccggcccgga	2	7	17	15	5	0	0	0	0	0	0	2	2	1	2	4	5	3	3	4	5	0	0			TCGA-FC-7961-01A-11D-A29Q-08	TCGA-FC-7961-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fdfbae-715d-4b84-9c40-5f5823a79bef	610916cc-7c38-42e8-8b8d-591284520b3e	g.chr5:177019240C>A	ENST00000332598.6	+	1	82	c.25C>A	c.(25-27)Ctc>Atc	p.L9I		NM_017510.4	NP_059980.2	Q9BVK6	TMED9_HUMAN	transmembrane emp24 protein transport domain containing 9	9					COPI coating of Golgi vesicle (GO:0048205)|Golgi organization (GO:0007030)|positive regulation of organelle organization (GO:0010638)|protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|trans-Golgi network transport vesicle (GO:0030140)	syntaxin binding (GO:0019905)			endometrium(1)|large_intestine(1)|lung(5)|prostate(1)|upper_aerodigestive_tract(2)	10	all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GGGCGTGCTGCTCGTCCGGCC	0.736																																						ENST00000332598.6																			0				endometrium(1)|large_intestine(1)|lung(5)|prostate(1)|upper_aerodigestive_tract(2)	10						c.(25-27)Ctc>Atc		transmembrane emp24 protein transport domain containing 9							12	16	14					5																	177019240		2189	4287	6476	SO:0001583	missense	54732				transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment|integral to membrane		g.chr5:177019240C>A	AF441399	CCDS4428.1	5q35.3	2008-02-05			ENSG00000184840	ENSG00000184840			24878	protein-coding gene	gene with protein product						12477932	Standard	NM_017510		Approved	HSGP25L2G	uc003mhx.3	Q9BVK6	OTTHUMG00000130859	ENST00000332598.6:c.25C>A	5.37:g.177019240C>A	ENSP00000330945:p.Leu9Ile						p.L9I	NM_017510.4	NP_059980.2	Q9BVK6	TMED9_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		1	82	+	all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	9					Q14437|Q8WZ61	Missense_Mutation	SNP	ENST00000332598.6	37	c.25C>A	CCDS4428.1	.	.	.	.	.	.	.	.	.	.	G	1.150	-0.647077	0.03506	.	.	ENSG00000184840	ENST00000332598	T	0.14391	2.51	4.83	2.99	0.34606	.	1.560350	0.03787	N	0.262243	T	0.07234	0.0183	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.36625	-0.9740	10	0.18710	T	0.47	-5.4368	3.0826	0.06267	0.086:0.1588:0.4267:0.3284	.	9	Q9BVK6	TMED9_HUMAN	I	9	ENSP00000330945:L9I	ENSP00000330945:L9I	L	+	1	0	TMED9	176951846	0.130000	0.22417	0.001000	0.08648	0.033000	0.12548	0.412000	0.21131	0.229000	0.21039	-0.371000	0.07208	CTC		0.736	TMED9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253433.1	NM_017510		4	30	1	0	2.56e-06	1	2.85538e-06	4	30					A	177019240	C	A	177019240	3	1	142	1	0	0	0	0	1	0	0	0	16009	797	28	5	27	5	TMED9	5	177019240	Missense_Mutation	SNP	C	TCGA-FC-7961-01A-11D-A29Q-08	1908995	177019240	3896020	29	7094											
MOG	4340	broad.mit.edu	37	chr6	29627139	29627139	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agacaccctatccgggctctGgtcggggatgaagtggaatt	9	9	14	9	2	1	2	0	1	1	1	3	4	2	4	2	5	0	1	2	5	3	2			TCGA-FC-7961-01A-11D-A29Q-08	TCGA-FC-7961-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fdfbae-715d-4b84-9c40-5f5823a79bef	610916cc-7c38-42e8-8b8d-591284520b3e	g.chr6:29627139G>C	ENST00000376917.3	+	2	361	c.132G>C	c.(130-132)ctG>ctC	p.L44L	MOG_ENST00000533330.2_Silent_p.L44L|MOG_ENST00000396701.2_Silent_p.L44L|MOG_ENST00000376891.4_Silent_p.L44L|MOG_ENST00000376898.3_Silent_p.L44L|MOG_ENST00000483013.1_Intron|MOG_ENST00000376894.4_Silent_p.L44L|MOG_ENST00000494692.1_Silent_p.L44L|MOG_ENST00000376888.2_Intron|MOG_ENST00000490427.1_Intron|MOG_ENST00000431798.2_Silent_p.L44L|MOG_ENST00000376902.3_Silent_p.L44L|MOG_ENST00000469603.1_3'UTR|MOG_ENST00000396704.3_Silent_p.L44L|MOG_ENST00000416766.2_Silent_p.L44L	NM_002433.4|NM_206809.3	NP_002424.3|NP_996532.2	Q16653	MOG_HUMAN	myelin oligodendrocyte glycoprotein	44	Ig-like V-type.				cell adhesion (GO:0007155)|central nervous system development (GO:0007417)|positive regulation of MyD88-dependent toll-like receptor signaling pathway (GO:0034126)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|skin(2)	19						TCCGGGCTCTGGTCGGGGATG	0.552																																						ENST00000376894.4																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|skin(2)	19						c.(130-132)ctG>ctC		myelin oligodendrocyte glycoprotein							208	226	220					6																	29627139		1511	2709	4220	SO:0001819	synonymous_variant	4340				cell adhesion|central nervous system development|positive regulation of MyD88-dependent toll-like receptor signaling pathway	integral to membrane|plasma membrane		g.chr6:29627139G>C		CCDS4667.1, CCDS34366.1, CCDS34367.1, CCDS34368.1, CCDS34369.1, CCDS34370.1, CCDS47394.1, CCDS47395.1, CCDS47395.2, CCDS54977.1	6p22.1	2014-01-16			ENSG00000204655	ENSG00000204655		"Immunoglobulin superfamily / V-set domain containing", "Butyrophilins"	7197	protein-coding gene	gene with protein product		159465					Standard	NM_002433		Approved	BTN6, BTNL11	uc003nne.3	Q16653	OTTHUMG00000031099	ENST00000376917.3:c.132G>C	6.37:g.29627139G>C						MOG_ENST00000376917.3_Silent_p.L44L|MOG_ENST00000376898.3_Silent_p.L44L|MOG_ENST00000533330.2_Silent_p.L44L|MOG_ENST00000494692.1_Silent_p.L44L|MOG_ENST00000490427.1_Intron|MOG_ENST00000376902.3_Silent_p.L44L|MOG_ENST00000431798.2_Silent_p.L44L|MOG_ENST00000483013.1_Intron|MOG_ENST00000416766.2_Silent_p.L44L|MOG_ENST00000469603.1_3'UTR|MOG_ENST00000376891.4_Silent_p.L44L|MOG_ENST00000396704.3_Silent_p.L44L|MOG_ENST00000376888.2_Intron|MOG_ENST00000396701.2_Silent_p.L44L	p.L44L			Q16653	MOG_HUMAN			2	250	+			44			Ig-like V-type.		A6NDR4|A6NNJ9|A8MY31|B0UZR9|E9PGF0|F8W9D5|O00713|O00714|O00715|Q13054|Q13055|Q14855|Q29ZN8|Q56UY0|Q5JNX7|Q5JNY1|Q5JNY2|Q5JNY4|Q5SSB5|Q5SSB6|Q5STL9|Q5STM0|Q5STM1|Q5STM2|Q5STM5|Q5SUK5|Q5SUK7|Q5SUK8|Q5SUK9|Q5SUL0|Q5SUL1|Q8IYG5|Q92891|Q92892|Q92893|Q92894|Q92895|Q93053|Q96KU9|Q96KV0|Q96KV1|Q99605	Silent	SNP	ENST00000376917.3	37	c.132G>C	CCDS34370.1																																																																																				0.552	MOG-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000076160.3	NM_002433		60	192	0	0	0	1	0	60	192					C	29627139	G	C	29627139	2	2	142	1	0	0	0	0	0	0	0	1	9693	1335	47	5		5	MOG	6	29627139	Silent	SNP	G	TCGA-FC-7961-01A-11D-A29Q-08		29627139	141487928	30	7095											
ITPR3	3710	broad.mit.edu	37	chr6	33656197	33656197	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caacgagatggagtggcagcGcaagctccgcagtgaggacc	11	4	15	11	3	0	2	0	1	0	1	1	5	1	4	2	3	3	4	2	3	2	0			TCGA-FC-7961-01A-11D-A29Q-08	TCGA-FC-7961-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fdfbae-715d-4b84-9c40-5f5823a79bef	610916cc-7c38-42e8-8b8d-591284520b3e	g.chr6:33656197G>A	ENST00000374316.5	+	49	7617	c.6557G>A	c.(6556-6558)cGc>cAc	p.R2186H	ITPR3_ENST00000605930.1_Missense_Mutation_p.R2186H			Q14573	ITPR3_HUMAN	inositol 1,4,5-trisphosphate receptor, type 3	2186					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|calcium ion transport into cytosol (GO:0060402)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|long-term synaptic potentiation (GO:0060291)|memory (GO:0007613)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|response to calcium ion (GO:0051592)|sensory perception of bitter taste (GO:0050913)|sensory perception of sweet taste (GO:0050916)|sensory perception of umami taste (GO:0050917)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	apical part of cell (GO:0045177)|brush border (GO:0005903)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|myelin sheath (GO:0043209)|neuronal cell body (GO:0043025)|nuclear outer membrane (GO:0005640)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|receptor complex (GO:0043235)	inositol 1,3,4,5 tetrakisphosphate binding (GO:0043533)|inositol 1,4,5 trisphosphate binding (GO:0070679)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|inositol hexakisphosphate binding (GO:0000822)|intracellular ligand-gated calcium channel activity (GO:0005218)|phosphatidylinositol binding (GO:0035091)			NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85					Caffeine(DB00201)	GAGTGGCAGCGCAAGCTCCGC	0.622																																						ENST00000374316.5																			0				NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85						c.(6556-6558)cGc>cAc		inositol 1,4,5-trisphosphate receptor, type 3							44	35	38					6																	33656197		2203	4300	6503	SO:0001583	missense	3710				activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion	apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane	inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding	g.chr6:33656197G>A	D26351	CCDS4783.1	6p21.31	2011-11-24	2011-04-28		ENSG00000096433	ENSG00000096433		"Ion channels / Inositol triphosphate receptors"	6182	protein-coding gene	gene with protein product		147267	"inositol 1,4,5-triphosphate receptor, type 3"			8081734, 8288584	Standard	NM_002224		Approved	IP3R3	uc021ywr.1	Q14573	OTTHUMG00000014532	ENST00000374316.5:c.6557G>A	6.37:g.33656197G>A	ENSP00000363435:p.Arg2186His					ITPR3_ENST00000605930.1_Missense_Mutation_p.R2186H	p.R2186H			Q14573	ITPR3_HUMAN			49	7617	+			2186					Q14649|Q5TAQ2	Missense_Mutation	SNP	ENST00000374316.5	37	c.6557G>A	CCDS4783.1	.	.	.	.	.	.	.	.	.	.	G	24.6	4.548664	0.86127	.	.	ENSG00000096433	ENST00000374316	D	0.91740	-2.9	5.37	4.5	0.54988	.	0.154798	0.53938	D	0.000060	D	0.86924	0.6050	L	0.46157	1.445	0.45718	D	0.99862	P;P	0.42123	0.771;0.521	P;B	0.46362	0.514;0.128	D	0.88302	0.2950	10	0.87932	D	0	-31.0845	7.2509	0.26148	0.2727:0.0:0.7273:0.0	.	2186;1856	Q14573;Q59ES2	ITPR3_HUMAN;.	H	2186	ENSP00000363435:R2186H	ENSP00000363435:R2186H	R	+	2	0	ITPR3	33764175	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.500000	0.66943	2.516000	0.84829	0.655000	0.94253	CGC		0.622	ITPR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040204.2	NM_002224		3	30	0	0	0	1	0	3	30					A	33656197	G	A	33656197	3	1	142	1	0	0	0	0	1	0	0	0	7922	1087	38	1	6747	1	ITPR3	6	33656197	Missense_Mutation	SNP	G	TCGA-FC-7961-01A-11D-A29Q-08	4029058	33656197	137458870	31	7096											
BTBD9	114781	broad.mit.edu	37	chr6	38545497	38545497	+	Splice_Site	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatgaagtatgagtaagaccTgtgaatcaaaaggaaaaagc	20	7	10	4	0	1	4	1	3	0	1	1	5	1	5	1	1	1	2	1	1	9	2			TCGA-FC-7961-01A-11D-A29Q-08	TCGA-FC-7961-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fdfbae-715d-4b84-9c40-5f5823a79bef	610916cc-7c38-42e8-8b8d-591284520b3e	g.chr6:38545497T>A	ENST00000481247.1	-	6	1186		c.e6-2		BTBD9_ENST00000419706.2_Splice_Site|BTBD9_ENST00000408958.1_Splice_Site|BTBD9_ENST00000403056.1_Splice_Site|BTBD9_ENST00000314100.6_Splice_Site	NM_001099272.1|NM_052893.1	NP_001092742.1|NP_443125.1	Q96Q07	BTBD9_HUMAN	BTB (POZ) domain containing 9						adult locomotory behavior (GO:0008344)|cell adhesion (GO:0007155)|circadian sleep/wake cycle, non-REM sleep (GO:0042748)|long-term memory (GO:0007616)|multicellular organismal iron ion homeostasis (GO:0060586)|regulation of synaptic vesicle endocytosis (GO:1900242)|sensory perception of temperature stimulus (GO:0050951)|serotonin metabolic process (GO:0042428)			p.?(2)		breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(3)|prostate(1)	12						GAGTAAGACCTGTGAATCAAA	0.308																																						ENST00000481247.1																			2	Unknown(2)	p.?(2)	kidney(2)	breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(3)|prostate(1)	12						c.e6-2		BTB (POZ) domain containing 9							72	66	68					6																	38545497		1843	4084	5927	SO:0001630	splice_region_variant	114781				cell adhesion			g.chr6:38545497T>A		CCDS43458.1, CCDS47418.1, CCDS54998.1	6p21	2014-01-28			ENSG00000183826	ENSG00000183826		"BTB/POZ domain containing"	21228	protein-coding gene	gene with protein product		611237				11572484	Standard	NM_052893		Approved	KIAA1880, dJ322I12.1	uc010jwx.3	Q96Q07	OTTHUMG00000014634	ENST00000481247.1:c.1035-2A>T	6.37:g.38545497T>A						BTBD9_ENST00000314100.6_Splice_Site|BTBD9_ENST00000419706.2_Splice_Site|BTBD9_ENST00000403056.1_Splice_Site|BTBD9_ENST00000408958.1_Splice_Site		NM_001099272.1|NM_052893.1	NP_001092742.1|NP_443125.1	Q96Q07	BTBD9_HUMAN			6	1186	-								Q494V9|Q494W1|Q96M00	Splice_Site	SNP	ENST00000481247.1	37		CCDS47418.1	.	.	.	.	.	.	.	.	.	.	T	19.68	3.873585	0.72180	.	.	ENSG00000183826	ENST00000314100;ENST00000481247;ENST00000419706;ENST00000403056;ENST00000408958	.	.	.	5.86	4.71	0.59529	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.6204	0.51115	0.0:0.0691:0.0:0.9309	.	.	.	.	.	-1	.	.	.	-	.	.	BTBD9	38653475	1.000000	0.71417	0.571000	0.28486	0.954000	0.61252	7.854000	0.86942	1.056000	0.40484	0.528000	0.53228	.		0.308	BTBD9-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040433.2	NM_152733	Intron	3	40	0	0	0	1	0	3	40					A	38545497	T	A	38545497	5	1	142	1	0	0	0	0	0	0	1	0	1548	1594	55	5	920	5	BTBD9	6	38545497	Splice_Site	SNP	T	TCGA-FC-7961-01A-11D-A29Q-08	4889300	38545497	132569570	32	7097											
UPP1	7378	broad.mit.edu	37	chr7	48146608	48146608	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctggtgcaggagctgttgcTgtgttctgcagagctgagcg	5	11	17	8	1	1	2	0	1	1	1	1	3	1	3	0	2	6	8	0	2	0	2			TCGA-FC-7961-01A-11D-A29Q-08	TCGA-FC-7961-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fdfbae-715d-4b84-9c40-5f5823a79bef	610916cc-7c38-42e8-8b8d-591284520b3e	g.chr7:48146608T>C	ENST00000331803.4	+	8	1198	c.575T>C	c.(574-576)cTg>cCg	p.L192P	UPP1_ENST00000429491.2_Missense_Mutation_p.L55P|UPP1_ENST00000341253.4_Missense_Mutation_p.L192P|UPP1_ENST00000482015.1_3'UTR|UPP1_ENST00000395564.4_Missense_Mutation_p.L192P			Q16831	UPP1_HUMAN	uridine phosphorylase 1	192					cellular response to glucose starvation (GO:0042149)|nucleobase-containing compound metabolic process (GO:0006139)|nucleobase-containing small molecule metabolic process (GO:0055086)|nucleotide catabolic process (GO:0009166)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|pyrimidine nucleoside salvage (GO:0043097)|small molecule metabolic process (GO:0044281)|UMP salvage (GO:0044206)|uridine metabolic process (GO:0046108)	cytosol (GO:0005829)	uridine phosphorylase activity (GO:0004850)			breast(1)|endometrium(2)|large_intestine(1)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	18					Fluorouracil(DB00544)	GAGCTGTTGCTGTGTTCTGCA	0.542																																						ENST00000331803.4																			0				breast(1)|endometrium(2)|large_intestine(1)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	18						c.(574-576)cTg>cCg		uridine phosphorylase 1							126	115	119					7																	48146608		2203	4300	6503	SO:0001583	missense	7378				nucleotide catabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process|pyrimidine nucleoside salvage	cytosol	uridine phosphorylase activity	g.chr7:48146608T>C	AK096167	CCDS5507.1	7p12.3	2012-10-02	2003-08-28	2003-08-29	ENSG00000183696	ENSG00000183696	2.4.2.3		12576	protein-coding gene	gene with protein product		191730	"uridine phosphorylase"	UP		752472, 11807789	Standard	NM_003364		Approved	UPASE, UPP, UDRPASE	uc003toj.3	Q16831	OTTHUMG00000129253	ENST00000331803.4:c.575T>C	7.37:g.48146608T>C	ENSP00000330032:p.Leu192Pro					UPP1_ENST00000395564.4_Missense_Mutation_p.L192P|UPP1_ENST00000482015.1_3'UTR|UPP1_ENST00000429491.2_Missense_Mutation_p.L55P|UPP1_ENST00000341253.4_Missense_Mutation_p.L192P	p.L192P			Q16831	UPP1_HUMAN			8	1198	+			192					D3DVM4|Q15362	Missense_Mutation	SNP	ENST00000331803.4	37	c.575T>C	CCDS5507.1	.	.	.	.	.	.	.	.	.	.	T	8.267	0.812410	0.16537	.	.	ENSG00000183696	ENST00000331803;ENST00000341253;ENST00000395564;ENST00000429491	D;D;D;D	0.86865	-2.18;-2.18;-2.18;-2.18	5.9	-6.21	0.02065	Nucleoside phosphorylase domain (1);	0.577096	0.19866	N	0.104306	T	0.71409	0.3336	N	0.14661	0.345	0.09310	N	0.999994	B;B	0.24618	0.107;0.107	B;B	0.38020	0.263;0.263	T	0.61926	-0.6962	10	0.45353	T	0.12	-5.2689	1.6695	0.02808	0.4315:0.1011:0.2794:0.188	.	55;192	Q86Y75;Q16831	.;UPP1_HUMAN	P	192;192;192;55	ENSP00000330032:L192P;ENSP00000342878:L192P;ENSP00000378931:L192P;ENSP00000406224:L55P	ENSP00000330032:L192P	L	+	2	0	UPP1	48113133	0.691000	0.27709	0.001000	0.08648	0.224000	0.24922	1.292000	0.33342	-0.765000	0.04645	-0.347000	0.07816	CTG		0.542	UPP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251360.1	NM_003364		19	75	0	0	0	1	0	19	75					C	48146608	T	C	48146608	3	2	142	1	0	0	0	0	1	0	0	0	17009	1580	55	4	593	4	UPP1	7	48146608	Missense_Mutation	SNP	T	TCGA-FC-7961-01A-11D-A29Q-08		48146608	110992055	33	7098											
CDCA2	157313	broad.mit.edu	37	chr8	25341516	25341516	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tttgaagcacctgcctttctAaatatgaggaagaggaagag	14	10	11	6	0	1	4	0	2	1	2	1	6	1	6	2	2	2	1	2	2	6	4			TCGA-FC-7961-01A-11D-A29Q-08	TCGA-FC-7961-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fdfbae-715d-4b84-9c40-5f5823a79bef	610916cc-7c38-42e8-8b8d-591284520b3e	g.chr8:25341516A>C	ENST00000330560.3	+	10	1632	c.1155A>C	c.(1153-1155)ctA>ctC	p.L385L	CDCA2_ENST00000521098.2_3'UTR|CDCA2_ENST00000380665.3_Silent_p.L370L	NM_152562.2	NP_689775.2	Q69YH5	CDCA2_HUMAN	cell division cycle associated 2	385					mitotic nuclear division (GO:0007067)|positive regulation of protein dephosphorylation (GO:0035307)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(3)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(7)|lung(10)|ovary(1)|prostate(3)	35		all_cancers(63;0.0378)|Ovarian(32;0.000878)|all_epithelial(46;0.0162)|Breast(100;0.0164)|Prostate(55;0.191)		UCEC - Uterine corpus endometrioid carcinoma (27;0.022)|Epithelial(17;1.37e-11)|Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0443)		CTGCCTTTCTAAATATGAGGA	0.338																																						ENST00000330560.3																			0				breast(3)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(7)|lung(10)|ovary(1)|prostate(3)	35						c.(1153-1155)ctA>ctC		cell division cycle associated 2							45	48	47					8																	25341516		2203	4300	6503	SO:0001819	synonymous_variant	157313				cell division|mitosis	cytoplasm|nucleus		g.chr8:25341516A>C	BG354575	CCDS6049.1	8p21.2	2014-06-12			ENSG00000184661	ENSG00000184661			14623	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 81"					12188893, 16492807	Standard	NM_152562		Approved	Repo-Man, PPP1R81	uc003xep.1	Q69YH5	OTTHUMG00000099429	ENST00000330560.3:c.1155A>C	8.37:g.25341516A>C						CDCA2_ENST00000380665.3_Silent_p.L370L|CDCA2_ENST00000521098.2_3'UTR	p.L385L	NM_152562.2	NP_689775.2	Q69YH5	CDCA2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.022)|Epithelial(17;1.37e-11)|Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0443)	10	1632	+		all_cancers(63;0.0378)|Ovarian(32;0.000878)|all_epithelial(46;0.0162)|Breast(100;0.0164)|Prostate(55;0.191)	385					Q3SX74|Q4G0W0|Q5RKN0|Q69YI4|Q6P464|Q8N7C1	Silent	SNP	ENST00000330560.3	37	c.1155A>C	CCDS6049.1																																																																																				0.338	CDCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216891.3	NM_152562		12	32	0	0	0	1	0	12	32					C	25341516	A	C	25341516	2	2	142	1	0	0	0	0	0	0	0	1	3086	349	13	5		5	CDCA2	8	25341516	Silent	SNP	A	TCGA-FC-7961-01A-11D-A29Q-08		25341516	121022506	34	7099											
CDCA2	157313	broad.mit.edu	37	chr8	25341608	25341608	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agcaaatactccattgcgtaAaggaggaacacctgtttgta	14	10	9	8	1	0	0	0	0	0	0	1	2	1	2	2	2	4	4	2	2	6	5			TCGA-FC-7961-01A-11D-A29Q-08	TCGA-FC-7961-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fdfbae-715d-4b84-9c40-5f5823a79bef	610916cc-7c38-42e8-8b8d-591284520b3e	g.chr8:25341608A>T	ENST00000330560.3	+	10	1724	c.1247A>T	c.(1246-1248)aAa>aTa	p.K416I	CDCA2_ENST00000521098.2_3'UTR|CDCA2_ENST00000380665.3_Missense_Mutation_p.K401I	NM_152562.2	NP_689775.2	Q69YH5	CDCA2_HUMAN	cell division cycle associated 2	416					mitotic nuclear division (GO:0007067)|positive regulation of protein dephosphorylation (GO:0035307)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(3)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(7)|lung(10)|ovary(1)|prostate(3)	35		all_cancers(63;0.0378)|Ovarian(32;0.000878)|all_epithelial(46;0.0162)|Breast(100;0.0164)|Prostate(55;0.191)		UCEC - Uterine corpus endometrioid carcinoma (27;0.022)|Epithelial(17;1.37e-11)|Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0443)		CCATTGCGTAAAGGAGGAACA	0.438																																						ENST00000330560.3																			0				breast(3)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(7)|lung(10)|ovary(1)|prostate(3)	35						c.(1246-1248)aAa>aTa		cell division cycle associated 2							101	98	99					8																	25341608		2203	4300	6503	SO:0001583	missense	157313				cell division|mitosis	cytoplasm|nucleus		g.chr8:25341608A>T	BG354575	CCDS6049.1	8p21.2	2014-06-12			ENSG00000184661	ENSG00000184661			14623	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 81"					12188893, 16492807	Standard	NM_152562		Approved	Repo-Man, PPP1R81	uc003xep.1	Q69YH5	OTTHUMG00000099429	ENST00000330560.3:c.1247A>T	8.37:g.25341608A>T	ENSP00000328228:p.Lys416Ile					CDCA2_ENST00000380665.3_Missense_Mutation_p.K401I|CDCA2_ENST00000521098.2_3'UTR	p.K416I	NM_152562.2	NP_689775.2	Q69YH5	CDCA2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.022)|Epithelial(17;1.37e-11)|Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0443)	10	1724	+		all_cancers(63;0.0378)|Ovarian(32;0.000878)|all_epithelial(46;0.0162)|Breast(100;0.0164)|Prostate(55;0.191)	416					Q3SX74|Q4G0W0|Q5RKN0|Q69YI4|Q6P464|Q8N7C1	Missense_Mutation	SNP	ENST00000330560.3	37	c.1247A>T	CCDS6049.1	.	.	.	.	.	.	.	.	.	.	A	22.8	4.334520	0.81801	.	.	ENSG00000184661	ENST00000330560;ENST00000380665	T;T	0.51325	0.71;0.71	6.01	4.87	0.63330	.	0.000000	0.85682	D	0.000000	T	0.65585	0.2705	M	0.77103	2.36	0.37329	D	0.909881	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.83275	0.996;0.991;0.991	T	0.72858	-0.4165	10	0.87932	D	0	-38.6887	8.0744	0.30708	0.9124:0.0:0.0876:0.0	.	416;401;416	B7Z5Q5;E9PEI0;Q69YH5	.;.;CDCA2_HUMAN	I	416;401	ENSP00000328228:K416I;ENSP00000370040:K401I	ENSP00000328228:K416I	K	+	2	0	CDCA2	25397525	1.000000	0.71417	0.997000	0.53966	0.946000	0.59487	1.805000	0.38883	2.307000	0.77673	0.528000	0.53228	AAA		0.438	CDCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216891.3	NM_152562		22	61	0	0	0	1	0	22	61					T	25341608	A	T	25341608	3	4	142	1	0	0	0	0	1	0	0	0	3086	14	1	5	1281	5	CDCA2	8	25341608	Missense_Mutation	SNP	A	TCGA-FC-7961-01A-11D-A29Q-08	92	25341608	121022414	35	7100											
SQLE	6713	broad.mit.edu	37	chr8	126030321	126030321	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtgttcttcttttgggagacGcatataatatgaggcatcca	10	14	10	7	1	2	2	0	1	2	1	3	3	3	2	1	2	0	3	1	2	3	7			TCGA-FC-7961-01A-11D-A29Q-08	TCGA-FC-7961-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fdfbae-715d-4b84-9c40-5f5823a79bef	610916cc-7c38-42e8-8b8d-591284520b3e	g.chr8:126030321G>A	ENST00000265896.5	+	8	2123	c.1225G>A	c.(1225-1227)Gca>Aca	p.A409T	SQLE_ENST00000523430.1_Missense_Mutation_p.A314T	NM_003129.3	NP_003120.2	Q14534	ERG1_HUMAN	squalene epoxidase	409					cellular aromatic compound metabolic process (GO:0006725)|cholesterol biosynthetic process (GO:0006695)|response to organic substance (GO:0010033)|small molecule metabolic process (GO:0044281)|sterol biosynthetic process (GO:0016126)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	flavin adenine dinucleotide binding (GO:0050660)|squalene monooxygenase activity (GO:0004506)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)	14	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)		Butenafine(DB01091)|Naftifine(DB00735)|Terbinafine(DB00857)	TTTGGGAGACGCATATAATAT	0.353																																						ENST00000265896.5																			0				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)	14						c.(1225-1227)Gca>Aca		squalene epoxidase	Butenafine(DB01091)|Naftifine(DB00735)|Terbinafine(DB00857)						109	103	105					8																	126030321		1828	4076	5904	SO:0001583	missense	6713				cholesterol biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome	flavin adenine dinucleotide binding|squalene monooxygenase activity	g.chr8:126030321G>A	D78130	CCDS47918.1	8q24.1	2014-06-23			ENSG00000104549	ENSG00000104549	1.14.13.132		11279	protein-coding gene	gene with protein product	"squalene monooxygenase"	602019				9286711	Standard	NM_003129		Approved		uc011liq.2	Q14534	OTTHUMG00000164990	ENST00000265896.5:c.1225G>A	8.37:g.126030321G>A	ENSP00000265896:p.Ala409Thr					SQLE_ENST00000523430.1_Missense_Mutation_p.A314T	p.A409T	NM_003129.3	NP_003120.2	Q14534	ERG1_HUMAN	STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)		8	2123	+	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		409					Q9UEK6	Missense_Mutation	SNP	ENST00000265896.5	37	c.1225G>A	CCDS47918.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.039032	0.75617	.	.	ENSG00000104549	ENST00000523430;ENST00000265896;ENST00000541193;ENST00000518931	T;T;T	0.75050	-0.9;-0.9;-0.9	5.48	5.48	0.80851	Aromatic-ring hydroxylase-like (1);Squalene epoxidase (1);	0.000000	0.85682	D	0.000000	D	0.89639	0.6773	M	0.91872	3.25	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.91448	0.5179	10	0.72032	D	0.01	-14.8692	19.3542	0.94404	0.0:0.0:1.0:0.0	.	409	Q14534	ERG1_HUMAN	T	314;409;214;61	ENSP00000430331:A314T;ENSP00000265896:A409T;ENSP00000429916:A61T	ENSP00000265896:A409T	A	+	1	0	SQLE	126099503	1.000000	0.71417	0.950000	0.38849	0.012000	0.07955	9.609000	0.98334	2.575000	0.86900	0.655000	0.94253	GCA		0.353	SQLE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381362.1	NM_003129		14	27	0	0	0	1	0	14	27					A	126030321	G	A	126030321	3	1	142	1	0	0	0	0	1	0	0	0	15127	1087	38	1	1154	1	SQLE	8	126030321	Missense_Mutation	SNP	G	TCGA-FC-7961-01A-11D-A29Q-08	100688713	126030321	20333701	36	7101											
BAI1	575	broad.mit.edu	37	chr8	143558527	143558527	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agcgtgtgctccagcacctgCggcgagggctggcagacccg	6	5	16	14	4	0	1	0	0	0	1	1	2	1	1	3	3	4	4	3	3	0	0	rs534391651		TCGA-FC-7961-01A-11D-A29Q-08	TCGA-FC-7961-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fdfbae-715d-4b84-9c40-5f5823a79bef	610916cc-7c38-42e8-8b8d-591284520b3e	g.chr8:143558527C>T	ENST00000517894.1	+	5	2004	c.1110C>T	c.(1108-1110)tgC>tgT	p.C370C	BAI1_ENST00000323289.5_Silent_p.C370C			O14514	BAI1_HUMAN	brain-specific angiogenesis inhibitor 1	370	TSP type-1 2. {ECO:0000255|PROSITE- ProRule:PRU00210}.				axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell proliferation (GO:0008285)|neuropeptide signaling pathway (GO:0007218)|peripheral nervous system development (GO:0007422)|signal transduction (GO:0007165)	cell-cell junction (GO:0005911)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(28)|ovary(4)|pancreas(1)|prostate(7)	57	all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					CCAGCACCTGCGGCGAGGGCT	0.697													C|||	1	0.000199681	0	0	5008	,	,		15948	0		0.001	False		,,,				2504	0					ENST00000517894.1																			0				NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(28)|ovary(4)|pancreas(1)|prostate(7)	57						c.(1108-1110)tgC>tgT		brain-specific angiogenesis inhibitor 1							14	19	18					8																	143558527		2066	4193	6259	SO:0001819	synonymous_variant	575				axonogenesis|cell adhesion|negative regulation of angiogenesis|negative regulation of cell proliferation|neuropeptide signaling pathway|peripheral nervous system development	cell-cell junction|integral to plasma membrane	G-protein coupled receptor activity|protein binding	g.chr8:143558527C>T	AB005297	CCDS64985.1	8q24.3	2014-08-08			ENSG00000181790	ENSG00000181790		"-", "GPCR / Class B : Orphans"	943	protein-coding gene	gene with protein product		602682				9533023	Standard	NM_001702		Approved		uc003ywm.3	O14514	OTTHUMG00000164732	ENST00000517894.1:c.1110C>T	8.37:g.143558527C>T						BAI1_ENST00000323289.5_Silent_p.C370C	p.C370C			O14514	BAI1_HUMAN			5	2004	+	all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)		370			TSP type-1 2.			Silent	SNP	ENST00000517894.1	37	c.1110C>T																																																																																					0.697	BAI1-001	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000379963.3	NM_001702		5	22	0	0	0	1	0	5	22					T	143558527	C	T	143558527	2	4	142	1	0	0	0	0	0	0	0	1	1298	776	27	1		1	BAI1	8	143558527	Silent	SNP	C	TCGA-FC-7961-01A-11D-A29Q-08	17528206	143558527	2805495	37	7102											
INSL6	11172	broad.mit.edu	37	chr9	5185354	5185354	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cgggccggggaagcggtttgCgggctttcgaactggtatgg	5	9	19	8	5	0	0	0	0	0	0	1	2	0	1	1	7	3	3	1	7	3	3	rs146054352		TCGA-FC-7961-01A-11D-A29Q-08	TCGA-FC-7961-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fdfbae-715d-4b84-9c40-5f5823a79bef	610916cc-7c38-42e8-8b8d-591284520b3e	g.chr9:5185354C>T	ENST00000381641.3	-	1	314	c.249G>A	c.(247-249)ccG>ccA	p.P83P		NM_007179.2	NP_009110.2	Q9Y581	INSL6_HUMAN	insulin-like 6	83					fertilization (GO:0009566)|male gonad development (GO:0008584)|negative regulation of apoptotic process (GO:0043066)|sperm motility (GO:0030317)|spermatid development (GO:0007286)	extracellular region (GO:0005576)	hormone activity (GO:0005179)			breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|lung(2)	15	all_hematologic(13;0.137)	Breast(48;0.147)|Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.0128)|Lung(218;0.145)		AAGCGGTTTGCGGGCTTTCGA	0.527													C|||	1	0.000199681	0	0	5008	,	,		16405	0.001		0	False		,,,				2504	0					ENST00000381641.3																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|lung(2)	15						c.(247-249)ccG>ccA		insulin-like 6							114	124	121					9																	5185354		2203	4300	6503	SO:0001819	synonymous_variant	11172					extracellular region	hormone activity	g.chr9:5185354C>T	AF156094	CCDS6458.1	9p24	2008-07-21			ENSG00000120210	ENSG00000120210			6089	protein-coding gene	gene with protein product	"relaxin/insulin-like factor 1"	606414				10819760	Standard	NM_007179		Approved	RIF1	uc003zix.3	Q9Y581	OTTHUMG00000019489	ENST00000381641.3:c.249G>A	9.37:g.5185354C>T							p.P83P	NM_007179.2	NP_009110.2	Q9Y581	INSL6_HUMAN		GBM - Glioblastoma multiforme(50;0.0128)|Lung(218;0.145)	1	314	-	all_hematologic(13;0.137)	Breast(48;0.147)|Acute lymphoblastic leukemia(23;0.158)	83					A0AVS0|Q9NS16	Silent	SNP	ENST00000381641.3	37	c.249G>A	CCDS6458.1																																																																																				0.527	INSL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051608.3	NM_007179		14	181	0	0	0	1	0	14	181					T	5185354	C	T	5185354	2	4	142	1	0	0	0	0	0	0	0	1	7770	755	27	1		1	INSL6	9	5185354	Silent	SNP	C	TCGA-FC-7961-01A-11D-A29Q-08		5185354	136028077	38	7103											
NOL6	65083	broad.mit.edu	37	chr9	33465277	33465277	+	Frame_Shift_Del	DEL	C	C	-																															ccaggctctcatcagcgaaaCcctcaccaagaagctgggca																										TCGA-FC-7961-01A-11D-A29Q-08	TCGA-FC-7961-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fdfbae-715d-4b84-9c40-5f5823a79bef	610916cc-7c38-42e8-8b8d-591284520b3e	g.chr9:33465277delC	ENST00000379471.2	-	20	2696	c.2609delG	c.(2608-2610)ggtfs	p.G870fs	NOL6_ENST00000455041.2_Frame_Shift_Del_p.G818fs|NOL6_ENST00000464829.1_Intron			Q9H6R4	NOL6_HUMAN	nucleolar protein 6 (RNA-associated)	870					rRNA processing (GO:0006364)	condensed nuclear chromosome (GO:0000794)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(4)|kidney(4)|large_intestine(5)|lung(8)|ovary(2)|prostate(2)|skin(2)	27			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.152)		ATCAGCGAAACCCTCACCAAG	0.627																																						ENST00000379471.2																			0				endometrium(4)|kidney(4)|large_intestine(5)|lung(8)|ovary(2)|prostate(2)|skin(2)	27						c.(2608-2610)gtfs		nucleolar protein 6 (RNA-associated)							36	27	30					9																	33465277		2202	4299	6501	SO:0001589	frameshift_variant	65083				rRNA processing	condensed nuclear chromosome|nucleolus	RNA binding	g.chr9:33465277delC	AF361079	CCDS6543.1, CCDS6544.1	9p12	2013-02-22	2013-02-22		ENSG00000165271	ENSG00000165271			19910	protein-coding gene	gene with protein product		611532	"nucleolar protein family 6 (RNA-associated)"			11895476, 15590835	Standard	NM_022917		Approved	bA311H10.1, Nrap, FLJ21959, MGC14896, MGC14921, MGC20838, UTP22	uc003zsz.3	Q9H6R4	OTTHUMG00000000394	ENST00000379471.2:c.2609delG	9.37:g.33465277delC	ENSP00000368784:p.Gly870fs					NOL6_ENST00000464829.1_Intron|NOL6_ENST00000455041.2_Frame_Shift_Del_p.G818fs	p.G870fs			Q9H6R4	NOL6_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.152)	20	2696	-			870					Q5T5M3|Q5T5M4|Q7L4G6|Q8N6I0|Q8TEY9|Q8TEZ0|Q8TEZ1|Q9H675	Frame_Shift_Del	DEL	ENST00000379471.2	37	c.2609delG																																																																																					0.627	NOL6-005	NOVEL	non_canonical_TEC|basic	protein_coding	protein_coding	OTTHUMT00000001019.2	NM_022917		2	4						2	4	---	---	---	---	-	33465277	C	-	33465277	7	5	142	1	0	1	0	1	0	0	0	0	10525	507	18	0	859	0	NOL6	9	33465277	Frame_Shift_Del	DEL	C	TCGA-FC-7961-01A-11D-A29Q-08	28279923	33465277	107748154	39	7104											
C9orf100	84904	broad.mit.edu	37	chr9	35662653	35662653	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcttggccatgaggagcacAtcagtgaagaggaagaacat	14	6	14	7	0	1	4	1	2	0	2	1	6	1	6	1	4	2	2	1	4	3	1			TCGA-FC-7961-01A-11D-A29Q-08	TCGA-FC-7961-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fdfbae-715d-4b84-9c40-5f5823a79bef	610916cc-7c38-42e8-8b8d-591284520b3e	g.chr9:35662653A>G	ENST00000378387.3	-	7	876	c.759T>C	c.(757-759)gaT>gaC	p.D253D	ARHGEF39_ENST00000343259.3_Intron|ARHGEF39_ENST00000490970.1_5'UTR|ARHGEF39_ENST00000378395.2_Silent_p.D217D	NM_032818.2	NP_116207.2	Q8N4T4	ARG39_HUMAN	Rho guanine nucleotide exchange factor (GEF) 39	253	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				positive regulation of cell migration (GO:0030335)	plasma membrane (GO:0005886)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)										TGAGGAGCACATCAGTGAAGA	0.647																																						ENST00000378387.3																			0											c.(757-759)gaT>gaC		Rho guanine nucleotide exchange factor (GEF) 39							29	28	28					9																	35662653		2203	4300	6503	SO:0001819	synonymous_variant	84904							g.chr9:35662653A>G	AK001187	CCDS6584.2	9p13.3	2012-08-08	2012-08-08	2012-08-08	ENSG00000137135	ENSG00000137135			25909	protein-coding gene	gene with protein product			"chromosome 9 open reading frame 100"	C9orf100		22327280	Standard	XR_242516		Approved	FLJ14642	uc003zxm.1	Q8N4T4	OTTHUMG00000019869	ENST00000378387.3:c.759T>C	9.37:g.35662653A>G						ARHGEF39_ENST00000378395.2_Silent_p.D217D|ARHGEF39_ENST00000490970.1_5'UTR|ARHGEF39_ENST00000343259.3_Intron	p.D253D	NM_032818.2	NP_116207.2					7	876	-								Q49AG0|Q6TPQ2|Q96ST6	Silent	SNP	ENST00000378387.3	37	c.759T>C	CCDS6584.2																																																																																				0.647	ARHGEF39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052330.1	NM_032818		5	17	0	0	0	1	0	5	17					G	35662653	A	G	35662653	2	3	142	1	0	0	0	0	0	0	0	1	2444	214	8	4		4	C9orf100	9	35662653	Silent	SNP	A	TCGA-FC-7961-01A-11D-A29Q-08	2197376	35662653	105550778	40	7105											
TLN1	7094	broad.mit.edu	37	chr9	35725562	35725562	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	accgggggagtcagactcacGaggaccagctggggcctctg	8	5	16	12	2	3	1	2	0	1	1	3	4	3	3	3	5	1	1	3	5	0	0	rs543841478		TCGA-FC-7961-01A-11D-A29Q-08	TCGA-FC-7961-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fdfbae-715d-4b84-9c40-5f5823a79bef	610916cc-7c38-42e8-8b8d-591284520b3e	g.chr9:35725562G>A	ENST00000314888.9	-	2	483	c.130C>T	c.(130-132)Ccc>Tcc	p.P44S	TLN1_ENST00000540444.1_Splice_Site_p.P44S	NM_006289.3	NP_006280.3	Q9Y490	TLN1_HUMAN	talin 1	44					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-cell junction assembly (GO:0007043)|cell-substrate junction assembly (GO:0007044)|cellular component movement (GO:0006928)|cellular protein metabolic process (GO:0044267)|cortical actin cytoskeleton organization (GO:0030866)|cytoskeletal anchoring at plasma membrane (GO:0007016)|endoplasmic reticulum unfolded protein response (GO:0030968)|muscle contraction (GO:0006936)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|microtubule organizing center (GO:0005815)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	integrin binding (GO:0005178)|LIM domain binding (GO:0030274)|structural constituent of cytoskeleton (GO:0005200)|vinculin binding (GO:0017166)			NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6)	85	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			TCAGACTCACGAGGACCAGCT	0.587																																						ENST00000314888.9																			0				NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6)	85						c.e2+1		talin 1							109	104	106					9																	35725562		2203	4300	6503	SO:0001630	splice_region_variant	7094				axon guidance|cell adhesion|cell-cell junction assembly|cellular component movement|cytoskeletal anchoring at plasma membrane|muscle contraction|platelet activation|platelet degranulation	actin cytoskeleton|centrosome|cytosol|extracellular region|focal adhesion|intracellular membrane-bounded organelle|ruffle membrane	actin binding|insulin receptor binding|LIM domain binding|structural constituent of cytoskeleton|vinculin binding	g.chr9:35725562G>A	AB028950	CCDS35009.1	9p23-p21	2008-02-05			ENSG00000137076	ENSG00000137076			11845	protein-coding gene	gene with protein product		186745		TLN		7635475, 10610730	Standard	NM_006289		Approved	ILWEQ	uc003zxt.2	Q9Y490	OTTHUMG00000019874	ENST00000314888.9:c.130+1C>T	9.37:g.35725562G>A						TLN1_ENST00000540444.1_Splice_Site_p.P44_splice	p.P44_splice	NM_006289.3	NP_006280.3	Q9Y490	TLN1_HUMAN	Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)		2	483	-	all_epithelial(49;0.167)		44					A6NMY0|Q86YD0|Q9NZQ2|Q9UHH8|Q9UPX3	Splice_Site	SNP	ENST00000314888.9	37	c.130_splice	CCDS35009.1	.	.	.	.	.	.	.	.	.	.	G	15.97	2.988438	0.53934	.	.	ENSG00000137076	ENST00000314888;ENST00000540444	T;T	0.70045	-0.44;-0.45	5.38	5.38	0.77491	.	0.000000	0.85682	D	0.000000	T	0.67202	0.2868	M	0.80616	2.505	0.80722	D	1	B;B	0.10296	0.003;0.003	B;B	0.11329	0.001;0.006	T	0.63598	-0.6601	9	.	.	.	-15.3147	12.6939	0.56992	0.0786:0.0:0.9214:0.0	.	44;44	Q5TCU5;Q9Y490	.;TLN1_HUMAN	S	44	ENSP00000316029:P44S;ENSP00000442981:P44S	.	P	-	1	0	TLN1	35715562	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.618000	0.54188	2.529000	0.85273	0.655000	0.94253	CCC		0.587	TLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052353.2	NM_006289	Missense_Mutation	46	91	0	0	0	1	0	46	91					A	35725562	G	A	35725562	5	1	142	1	0	0	0	0	0	0	1	0	15944	1072	37	2	7719	2	TLN1	9	35725562	Splice_Site	SNP	G	TCGA-FC-7961-01A-11D-A29Q-08	62909	35725562	105487869	41	7106											
MED27	9442	broad.mit.edu	37	chr9	134889831	134889831	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctgatttaaaaggccagaTgctagtcctgcatggtactg	10	12	11	8	0	0	2	0	1	0	1	1	2	1	2	2	2	4	4	2	2	4	4			TCGA-FC-7961-01A-11D-A29Q-08	TCGA-FC-7961-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fdfbae-715d-4b84-9c40-5f5823a79bef	610916cc-7c38-42e8-8b8d-591284520b3e	g.chr9:134889831T>C	ENST00000292035.5	-	3	435	c.372A>G	c.(370-372)gcA>gcG	p.A124A	MED27_ENST00000357028.2_Silent_p.A124A	NM_004269.3	NP_004260.2	Q6P2C8	MED27_HUMAN	mediator complex subunit 27	124					gene expression (GO:0010467)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|mediator complex (GO:0016592)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	transcription coactivator activity (GO:0003713)			breast(1)|endometrium(4)|kidney(3)|large_intestine(3)|lung(5)|skin(1)|urinary_tract(1)	18		Myeloproliferative disorder(178;0.206)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000193)		AAAGGCCAGATGCTAGTCCTG	0.423																																					Colon(41;784 923 6932 42329 52483)	ENST00000292035.5																			0				breast(1)|endometrium(4)|kidney(3)|large_intestine(3)|lung(5)|skin(1)|urinary_tract(1)	18						c.(370-372)gcA>gcG		mediator complex subunit 27							99	82	88					9																	134889831		2203	4300	6503	SO:0001819	synonymous_variant	9442				regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	cytoplasm|nucleolus|transcription factor complex	protein binding|transcription coactivator activity	g.chr9:134889831T>C	AF104252	CCDS6945.1, CCDS59153.1, CCDS69689.1	9q34.13	2008-02-05	2007-07-30	2007-07-30	ENSG00000160563	ENSG00000160563			2377	protein-coding gene	gene with protein product		605044	"cofactor required for Sp1 transcriptional activation, subunit 8, 34kDa"	CRSP8		9989412	Standard	NM_004269		Approved	TRAP37, CRSP34	uc004cbe.2	Q6P2C8	OTTHUMG00000020833	ENST00000292035.5:c.372A>G	9.37:g.134889831T>C						MED27_ENST00000357028.2_Silent_p.A86A|MED27_ENST00000372184.3_Silent_p.A124A	p.A124A	NM_004269.3	NP_004260.2	Q6P2C8	MED27_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000193)	3	435	-		Myeloproliferative disorder(178;0.206)	124					O95401|Q4F964|Q5VTA4|Q5VTA5|Q9BU57|Q9NYR4|V9GYV9	Silent	SNP	ENST00000292035.5	37	c.372A>G	CCDS6945.1																																																																																				0.423	MED27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054770.2	NM_004269		6	34	0	0	0	1	0	6	34					C	134889831	T	C	134889831	2	2	142	1	0	0	0	0	0	0	0	1	9445	1451	51	4		4	MED27	9	134889831	Silent	SNP	T	TCGA-FC-7961-01A-11D-A29Q-08	99164269	134889831	6323600	42	7107											
PTEN	5728	broad.mit.edu	37	chr10	89717695	89717696	+	Frame_Shift_Ins	INS	-	-	T																															gggaagacaagttcatgtacINStttgagttccctcagccgtt																								rs190070312		TCGA-FC-7961-01A-11D-A29Q-08	TCGA-FC-7961-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fdfbae-715d-4b84-9c40-5f5823a79bef	610916cc-7c38-42e8-8b8d-591284520b3e	g.chr10:89717695_89717696insT	ENST00000371953.3	+	7	2077_2078	c.720_721insT	c.(721-723)tttfs	p.F241fs	PTEN_ENST00000472832.1_3'UTR	NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	241	C2 tensin-type. {ECO:0000255|PROSITE- ProRule:PRU00589}.		F -> S (in MCEPHAS). {ECO:0000269|PubMed:15805158}.		activation of mitotic anaphase-promoting complex activity (GO:0007092)|aging (GO:0007568)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|brain morphogenesis (GO:0048854)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle tissue development (GO:0048738)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|central nervous system myelin maintenance (GO:0032286)|central nervous system neuron axonogenesis (GO:0021955)|dendritic spine morphogenesis (GO:0060997)|dentate gyrus development (GO:0021542)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|innate immune response (GO:0045087)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|learning or memory (GO:0007611)|locomotor rhythm (GO:0045475)|locomotory behavior (GO:0007626)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|male mating behavior (GO:0060179)|maternal behavior (GO:0042711)|memory (GO:0007613)|multicellular organismal response to stress (GO:0033555)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell aging (GO:0090344)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031658)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myelination (GO:0031642)|negative regulation of organ growth (GO:0046621)|negative regulation of phagocytosis (GO:0050765)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of ribosome biogenesis (GO:0090071)|negative regulation of synaptic vesicle clustering (GO:2000808)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell proliferation (GO:0008284)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|postsynaptic density assembly (GO:0097107)|prepulse inhibition (GO:0060134)|presynaptic membrane assembly (GO:0097105)|prostate gland growth (GO:0060736)|protein dephosphorylation (GO:0006470)|protein kinase B signaling (GO:0043491)|protein stabilization (GO:0050821)|regulation of B cell apoptotic process (GO:0002902)|regulation of cellular component size (GO:0032535)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of neuron projection development (GO:0010975)|regulation of protein stability (GO:0031647)|response to arsenic-containing substance (GO:0046685)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse maturation (GO:0060074)|T cell receptor signaling pathway (GO:0050852)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|myelin sheath adaxonal region (GO:0035749)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)	anaphase-promoting complex binding (GO:0010997)|enzyme binding (GO:0019899)|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity (GO:0051717)|lipid binding (GO:0008289)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity (GO:0051800)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.0?(37)|p.R55fs*1(5)|p.N212fs*1(2)|p.Y27fs*1(2)|p.F241L(1)|p.G165_*404del(1)|p.?(1)|p.F241fs*1(1)|p.Y240*(1)|p.R234fs*9(1)|p.F241fs*17(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		AGTTCATGTACTTTGAGTTCCC	0.411		31	"D, Mis, N, F, S"		"glioma,  prostate, endometrial"	"harmartoma, glioma,  prostate, endometrial"			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																												ENST00000371953.3		31	yes	Rec	yes	"Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"	10	10q23.3	5728	"D, Mis, N, F, S"	phosphatase and tensin homolog gene			"L, E, M, O"		"harmartoma, glioma,  prostate, endometrial"	"glioma,  prostate, endometrial"		53	Whole gene deletion(37)|Deletion - Frameshift(11)|Deletion - In frame(1)|Substitution - Nonsense(1)|Complex - frameshift(1)|Unknown(1)|Substitution - Missense(1)	p.0?(37)|p.R55fs*1(5)|p.N212fs*1(2)|p.Y27fs*1(2)|p.F241L(1)|p.G165_*404del(1)|p.?(1)|p.F241fs*1(1)|p.Y240*(1)|p.R234fs*9(1)|p.F241fs*17(1)	prostate(16)|central_nervous_system(11)|skin(6)|haematopoietic_and_lymphoid_tissue(5)|lung(4)|breast(3)|ovary(3)|endometrium(2)|urinary_tract(2)|soft_tissue(1)	NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771						c.(718-723)tattgafs		phosphatase and tensin homolog																																				SO:0001589	frameshift_variant	5728	Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	Familial Cancer Database	Incl.: Encephalocraniocutaneous Lipomatosis, ECCL, Proteus-like s.;incl.: Juvenile Polyposis of the Stomach;HMPS1, Colorectal Adenoma Carcinoma syndrome, CRAC, CRAC1;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;subset of PTEN-Hamartoma Tumor Syndrome; incl.: Ruvalcaba-Myhre-Smith s.	activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr10:89717695_89717696insT	U92436	CCDS31238.1	10q23	2014-09-17	2008-07-31		ENSG00000171862	ENSG00000171862		"Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"	9588	protein-coding gene	gene with protein product	"mutated in multiple advanced cancers 1"	601728		BZS, MHAM		9090379	Standard	NM_000314		Approved	MMAC1, TEP1, PTEN1	uc001kfb.3	P60484	OTTHUMG00000018688	ENST00000371953.3:c.723dupT	10.37:g.89717698_89717698dupT	ENSP00000361021:p.Phe241fs	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)				PTEN_ENST00000472832.1_3'UTR	p.*241fs	NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)	7	2077_2078	+		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	241		F -> S (in MCEPHAS).	C2 tensin-type.		B2R904|F2YHV0|O00633|O02679|Q6ICT7	Frame_Shift_Ins	INS	ENST00000371953.3	37	c.720_721insT	CCDS31238.1																																																																																				0.411	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1	NM_000314		27	51						27	51	---	---	---	---	T	89717696	-	T	89717695	7	5	142	1	0	1	1	0	0	0	0	0	12738	576	20	0	746	0	PTEN	10	89717695	Frame_Shift_Ins	INS	-	TCGA-FC-7961-01A-11D-A29Q-08		89717695	45817052	43	7108											
ITPRIP	85450	broad.mit.edu	37	chr10	106075334	106075334	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cttccaggaactcccgggtaCgggctgcatcggccgtggcc	5	7	14	15	4	0	0	0	0	0	0	3	1	2	1	4	5	3	3	4	5	2	2	rs145318706		TCGA-FC-7961-01A-11D-A29Q-08	TCGA-FC-7961-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fdfbae-715d-4b84-9c40-5f5823a79bef	610916cc-7c38-42e8-8b8d-591284520b3e	g.chr10:106075334C>T	ENST00000337478.1	-	2	647	c.476G>A	c.(475-477)cGt>cAt	p.R159H	ITPRIP_ENST00000278071.2_Missense_Mutation_p.R159H|RP11-127L20.5_ENST00000472915.2_RNA|ITPRIP_ENST00000358187.2_Missense_Mutation_p.R159H	NM_001272013.1	NP_001258942.1	Q8IWB1	IPRI_HUMAN	inositol 1,4,5-trisphosphate receptor interacting protein	159						membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(1)|endometrium(3)|large_intestine(5)|liver(1)|lung(9)|upper_aerodigestive_tract(1)	20						CTCCCGGGTACGGGCTGCATC	0.657																																						ENST00000278071.2																			0				breast(1)|endometrium(3)|large_intestine(5)|liver(1)|lung(9)|upper_aerodigestive_tract(1)	20						c.(475-477)cGt>cAt		inositol 1,4,5-trisphosphate receptor interacting protein							39	43	42					10																	106075334		2203	4299	6502	SO:0001583	missense	85450					plasma membrane		g.chr10:106075334C>T	AB051541	CCDS7557.1	10q25.1	2011-04-28	2011-04-28	2008-08-11	ENSG00000148841	ENSG00000148841			29370	protein-coding gene	gene with protein product			"KIAA1754", "inositol 1,4,5-triphosphate receptor interacting protein"	KIAA1754		11214970, 16990268	Standard	NM_001272012		Approved	bA127L20.2, DANGER	uc001kye.4	Q8IWB1	OTTHUMG00000019003	ENST00000337478.1:c.476G>A	10.37:g.106075334C>T	ENSP00000337178:p.Arg159His					ITPRIP_ENST00000358187.2_Missense_Mutation_p.R159H|ITPRIP_ENST00000337478.1_Missense_Mutation_p.R159H	p.R159H	NM_033397.2	NP_203755.1	Q8IWB1	IPRI_HUMAN			3	928	-			159					D3DRA5|Q5JU17|Q96MS8|Q9C0A9	Missense_Mutation	SNP	ENST00000337478.1	37	c.476G>A	CCDS7557.1	.	.	.	.	.	.	.	.	.	.	C	19.96	3.922933	0.73213	.	.	ENSG00000148841	ENST00000337478;ENST00000278071;ENST00000358187	T;T;T	0.25912	1.77;1.77;1.77	5.68	5.68	0.88126	.	0.048150	0.85682	D	0.000000	T	0.53642	0.1809	M	0.74881	2.28	0.44880	D	0.997892	D	0.89917	1.0	D	0.73708	0.981	T	0.50575	-0.8812	10	0.48119	T	0.1	-35.904	19.7782	0.96405	0.0:1.0:0.0:0.0	.	159	Q8IWB1	IPRI_HUMAN	H	159	ENSP00000337178:R159H;ENSP00000278071:R159H;ENSP00000350915:R159H	ENSP00000278071:R159H	R	-	2	0	ITPRIP	106065324	1.000000	0.71417	1.000000	0.80357	0.765000	0.43378	5.503000	0.66962	2.676000	0.91093	0.563000	0.77884	CGT		0.657	ITPRIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050204.1	NM_033397		4	67	0	0	0	1	0	4	67					T	106075334	C	T	106075334	3	4	142	1	0	0	0	0	1	0	0	0	7923	536	19	1	1171	1	ITPRIP	10	106075334	Missense_Mutation	SNP	C	TCGA-FC-7961-01A-11D-A29Q-08	16357639	106075334	29459413	44	7109											
FAM196A	642938	broad.mit.edu	37	chr10	128973613	128973613	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	accacttccgtatgaggcacGattcgttggcattcttcacc	8	12	8	13	3	2	1	1	1	1	0	4	2	3	1	3	2	0	4	3	2	1	6	rs184333971	byFrequency	TCGA-FC-7961-01A-11D-A29Q-08	TCGA-FC-7961-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fdfbae-715d-4b84-9c40-5f5823a79bef	610916cc-7c38-42e8-8b8d-591284520b3e	g.chr10:128973613G>A	ENST00000522781.1	-	4	1602	c.1047C>T	c.(1045-1047)atC>atT	p.I349I	FAM196A_ENST00000424811.2_Silent_p.I349I|DOCK1_ENST00000280333.6_Intron	NM_001039762.2	NP_001034851.1	Q6ZSG2	F196A_HUMAN	family with sequence similarity 196, member A	349								p.I349I(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						TATGAGGCACGATTCGTTGGC	0.552													G|||	3	0.000599042	8e-04	0	5008	,	,		18634	0		0.002	False		,,,				2504	0					ENST00000522781.1																			1	Substitution - coding silent(1)	p.I349I(1)	large_intestine(1)	breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						c.(1045-1047)atC>atT		family with sequence similarity 196, member A							146	152	150					10																	128973613		2203	4300	6503	SO:0001819	synonymous_variant	642938							g.chr10:128973613G>A		CCDS31312.1	10q26.2	2009-09-11	2009-09-11	2009-09-11		ENSG00000188916			33859	protein-coding gene	gene with protein product			"chromosome 10 open reading frame 141"	C10orf141			Standard	NM_001039762		Approved	FLJ45557	uc001ljv.1	Q6ZSG2		ENST00000522781.1:c.1047C>T	10.37:g.128973613G>A						FAM196A_ENST00000424811.2_Silent_p.I349I|DOCK1_ENST00000280333.6_Intron	p.I349I	NM_001039762.2	NP_001034851.1	Q6ZSG2	F196A_HUMAN			4	1602	-			349					B2RNT4|B7ZME7	Silent	SNP	ENST00000522781.1	37	c.1047C>T	CCDS31312.1																																																																																				0.552	FAM196A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050978.2	NM_001039762		4	209	0	0	0	1	0	4	209					A	128973613	G	A	128973613	2	1	142	1	0	0	0	0	0	0	0	1	5528	1048	37	2		2	FAM196A	10	128973613	Silent	SNP	G	TCGA-FC-7961-01A-11D-A29Q-08	22898279	128973613	6561134	45	7110											
ADAM8	101	broad.mit.edu	37	chr10	135085058	135085058	+	Frame_Shift_Del	DEL	C	C	-																															ggggccgcagtcgcactgctCcccacgctccacaaacaggt																										TCGA-FC-7961-01A-11D-A29Q-08	TCGA-FC-7961-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fdfbae-715d-4b84-9c40-5f5823a79bef	610916cc-7c38-42e8-8b8d-591284520b3e	g.chr10:135085058delC	ENST00000445355.3	-	12	1308	c.1258delG	c.(1258-1260)gagfs	p.E420fs	ADAM8_ENST00000485491.2_Frame_Shift_Del_p.E381fs|ADAM8_ENST00000415217.3_Frame_Shift_Del_p.E420fs|ADAM8_ENST00000559180.1_5'Flank	NM_001109.4	NP_001100.3	P78325	ADAM8_HUMAN	ADAM metallopeptidase domain 8	420	Disintegrin. {ECO:0000255|PROSITE- ProRule:PRU00068}.				activation of MAPK activity involved in innate immune response (GO:0035419)|angiogenesis (GO:0001525)|cell morphogenesis (GO:0000902)|cellular response to hypoxia (GO:0071456)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|inflammatory response (GO:0006954)|leukocyte migration involved in inflammatory response (GO:0002523)|lymphocyte chemotaxis (GO:0048247)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of bone resorption (GO:0045780)|positive regulation of cell adhesion (GO:0045785)|positive regulation of eosinophil migration (GO:2000418)|positive regulation of fibronectin-dependent thymocyte migration (GO:2000415)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|positive regulation of neutrophil extravasation (GO:2000391)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein processing (GO:0010954)|positive regulation of protein secretion (GO:0050714)|positive regulation of T cell differentiation in thymus (GO:0033089)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of tumor necrosis factor (ligand) superfamily member 11 production (GO:2000309)|regulation of cell-cell adhesion (GO:0022407)|single organismal cell-cell adhesion (GO:0016337)	alpha9-beta1 integrin-ADAM8 complex (GO:0071133)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|dense core granule membrane (GO:0032127)|integral component of plasma membrane (GO:0005887)|phagolysosome (GO:0032010)|plasma membrane (GO:0005886)|podosome (GO:0002102)|specific granule (GO:0042581)|tertiary granule (GO:0070820)	calcium ion binding (GO:0005509)|cell adhesion molecule binding (GO:0050839)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|protein self-association (GO:0043621)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)	17		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		all cancers(32;7.72e-06)|OV - Ovarian serous cystadenocarcinoma(35;8.23e-06)|Epithelial(32;1.02e-05)		TCGCACTGCTCCCCACGCTCC	0.682																																						ENST00000445355.3																			0				central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)	17						c.(1258-1260)agfs		ADAM metallopeptidase domain 8							14	12	13					10																	135085058		2111	4203	6314	SO:0001589	frameshift_variant	101				integrin-mediated signaling pathway|proteolysis		metalloendopeptidase activity	g.chr10:135085058delC	D26579	CCDS31319.2, CCDS58102.1, CCDS58103.1	10q26.3	2014-03-20	2005-08-18		ENSG00000151651	ENSG00000151651		"ADAM metallopeptidase domain containing", "CD molecules"	215	protein-coding gene	gene with protein product		602267	"a disintegrin and metalloproteinase domain 8"			9126482	Standard	NM_001109		Approved	CD156, MS2, CD156a	uc021qbe.1	P78325	OTTHUMG00000019309	ENST00000445355.3:c.1258delG	10.37:g.135085058delC	ENSP00000453302:p.Glu420fs					ADAM8_ENST00000485491.2_Frame_Shift_Del_p.E381fs|ADAM8_ENST00000415217.3_Frame_Shift_Del_p.E420fs	p.E420fs	NM_001109.4	NP_001100.3	B4DVM6	B4DVM6_HUMAN		all cancers(32;7.72e-06)|OV - Ovarian serous cystadenocarcinoma(35;8.23e-06)|Epithelial(32;1.02e-05)	12	1308	-		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)	381					B4DVM6|H0YL36|H0YLR0|H0YN39	Frame_Shift_Del	DEL	ENST00000445355.3	37	c.1258delG	CCDS31319.2																																																																																				0.682	ADAM8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051118.4	NM_001109		2	4						2	4	---	---	---	---	-	135085058	C	-	135085058	7	5	142	1	0	1	0	1	0	0	0	0	252	864	30	0	1182	0	ADAM8	10	135085058	Frame_Shift_Del	DEL	C	TCGA-FC-7961-01A-11D-A29Q-08	6111445	135085058	449689	46	7111											
SYT9	143425	broad.mit.edu	37	chr11	7437324	7437324	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ccctgtgctatcttccaacgGctggcaggctgaccattacc	7	10	9	15	1	1	1	0	1	1	0	2	1	2	1	4	3	3	4	4	3	3	3			TCGA-FC-7961-01A-11D-A29Q-08	TCGA-FC-7961-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fdfbae-715d-4b84-9c40-5f5823a79bef	610916cc-7c38-42e8-8b8d-591284520b3e	g.chr11:7437324G>T	ENST00000318881.6	+	4	1333	c.1096G>T	c.(1096-1098)Gct>Tct	p.A366S		NM_175733.3	NP_783860.1	Q86SS6	SYT9_HUMAN	synaptotagmin IX	366	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				positive regulation of calcium ion-dependent exocytosis (GO:0045956)|regulation of insulin secretion (GO:0050796)	cell junction (GO:0030054)|dense core granule (GO:0031045)|integral component of membrane (GO:0016021)|secretory granule membrane (GO:0030667)|synaptic vesicle (GO:0008021)	metal ion binding (GO:0046872)|transporter activity (GO:0005215)			NS(1)|endometrium(2)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	38				Epithelial(150;1.34e-07)|LUSC - Lung squamous cell carcinoma(625;0.0949)		TCTTCCAACGGCTGGCAGGCT	0.443																																						ENST00000318881.6																			0				NS(1)|endometrium(2)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	38						c.(1096-1098)Gct>Tct		synaptotagmin IX							164	148	154					11																	7437324		2201	4296	6497	SO:0001583	missense	143425					cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity	g.chr11:7437324G>T	AK055003	CCDS7778.1	11p15.4	2013-01-21			ENSG00000170743	ENSG00000170743		"Synaptotagmins"	19265	protein-coding gene	gene with protein product		613528				11543631	Standard	NM_175733		Approved		uc001mfe.3	Q86SS6	OTTHUMG00000165499	ENST00000318881.6:c.1096G>T	11.37:g.7437324G>T	ENSP00000324419:p.Ala366Ser						p.A366S	NM_175733.3	NP_783860.1	Q86SS6	SYT9_HUMAN		Epithelial(150;1.34e-07)|LUSC - Lung squamous cell carcinoma(625;0.0949)	4	1333	+			366			C2 2.			Missense_Mutation	SNP	ENST00000318881.6	37	c.1096G>T	CCDS7778.1	.	.	.	.	.	.	.	.	.	.	G	27.9	4.868876	0.91587	.	.	ENSG00000170743	ENST00000318881	T	0.71461	-0.57	4.85	4.85	0.62838	C2 membrane targeting protein (1);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.53938	D	0.000048	T	0.65595	0.2706	N	0.05534	-0.03	0.80722	D	1	P	0.38370	0.628	P	0.51487	0.671	T	0.71487	-0.4578	10	0.59425	D	0.04	.	15.8291	0.78739	0.0:0.0:1.0:0.0	.	366	Q86SS6	SYT9_HUMAN	S	366	ENSP00000324419:A366S	ENSP00000324419:A366S	A	+	1	0	SYT9	7393900	1.000000	0.71417	0.979000	0.43373	0.998000	0.95712	9.180000	0.94867	2.675000	0.91044	0.655000	0.94253	GCT		0.443	SYT9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384483.1	NM_175733		22	59	1	0	1.55795e-14	1	1.88252e-14	22	59					T	7437324	G	T	7437324	3	4	142	1	0	0	0	0	1	0	0	0	15478	1203	42	5	1110	5	SYT9	11	7437324	Missense_Mutation	SNP	G	TCGA-FC-7961-01A-11D-A29Q-08		7437324	127569192	47	7112											
SLC22A11	55867	broad.mit.edu	37	chr11	64326610	64326610	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gcaccctcctcttgcagtggGacctggtgtgcagctcccag	5	9	12	15	0	1	0	0	0	1	0	3	1	3	1	4	2	3	4	4	2	0	1			TCGA-FC-7961-01A-11D-A29Q-08	TCGA-FC-7961-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fdfbae-715d-4b84-9c40-5f5823a79bef	610916cc-7c38-42e8-8b8d-591284520b3e	g.chr11:64326610G>A	ENST00000301891.4	+	2	771	c.397G>A	c.(397-399)Gac>Aac	p.D133N	SLC22A11_ENST00000377585.3_Missense_Mutation_p.D133N|SLC22A11_ENST00000377581.3_Missense_Mutation_p.D133N|SLC22A11_ENST00000490834.1_Intron	NM_018484.2	NP_060954.1	Q9NSA0	S22AB_HUMAN	solute carrier family 22 (organic anion/urate transporter), member 11	133					organic anion transport (GO:0015711)|transmembrane transport (GO:0055085)|urate metabolic process (GO:0046415)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|organic anion transmembrane transporter activity (GO:0008514)|sodium-independent organic anion transmembrane transporter activity (GO:0015347)			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	23					Aminohippurate(DB00345)|Aspartame(DB00168)|Benzylpenicillin(DB01053)|Bumetanide(DB00887)|Cefalotin(DB00456)|Cefamandole(DB01326)|Cefazolin(DB01327)|Cefoperazone(DB01329)|Cefotaxime(DB00493)|Ceftriaxone(DB01212)|Cimetidine(DB00501)|Conjugated Estrogens(DB00286)|Diclofenac(DB00586)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Doxycycline(DB00254)|Estradiol(DB00783)|Furosemide(DB00695)|Ibuprofen(DB01050)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Methotrexate(DB00563)|Minocycline(DB01017)|Novobiocin(DB01051)|Oxytetracycline(DB00595)|Phenylbutazone(DB00812)|Piroxicam(DB00554)|Pravastatin(DB00175)|Probenecid(DB01032)|Salicylic acid(DB00936)|Tetracycline(DB00759)|Zidovudine(DB00495)	CTTGCAGTGGGACCTGGTGTG	0.637																																						ENST00000301891.4																			0				breast(1)|central_nervous_system(3)|endometrium(3)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	23						c.(397-399)Gac>Aac		solute carrier family 22 (organic anion/urate transporter), member 11	Probenecid(DB01032)						111	101	104					11																	64326610		2201	4297	6498	SO:0001583	missense	55867				urate metabolic process	apical plasma membrane|external side of plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium-independent organic anion transmembrane transporter activity	g.chr11:64326610G>A	AB026116	CCDS8074.1	11q13.3	2013-05-22	2008-01-11		ENSG00000168065	ENSG00000168065		"Solute carriers"	18120	protein-coding gene	gene with protein product		607097				10660625, 15576633, 17229912	Standard	NM_018484		Approved	OAT4	uc001oai.3	Q9NSA0	OTTHUMG00000045142	ENST00000301891.4:c.397G>A	11.37:g.64326610G>A	ENSP00000301891:p.Asp133Asn					SLC22A11_ENST00000490834.1_Intron|SLC22A11_ENST00000377585.3_Missense_Mutation_p.D133N|SLC22A11_ENST00000377581.3_Missense_Mutation_p.D133N	p.D133N	NM_018484.2	NP_060954.1	Q9NSA0	S22AB_HUMAN			2	771	+			133					A8K426|Q53GR2|Q6ZP72|Q8NBU4	Missense_Mutation	SNP	ENST00000301891.4	37	c.397G>A	CCDS8074.1	.	.	.	.	.	.	.	.	.	.	.	16.92	3.254221	0.59212	.	.	ENSG00000168065	ENST00000301891;ENST00000377585;ENST00000377581	T;T;T	0.80994	-1.44;-1.44;-1.44	3.48	1.5	0.22942	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.056548	0.64402	N	0.000002	T	0.71986	0.3405	L	0.48642	1.525	0.34040	D	0.654865	P;P;P	0.40144	0.67;0.704;0.704	B;B;B	0.42030	0.373;0.366;0.366	T	0.70952	-0.4732	10	0.25106	T	0.35	.	7.6615	0.28407	0.2237:0.0:0.7763:0.0	.	133;133;133	Q9NSA0-2;A6NCG2;Q9NSA0	.;.;S22AB_HUMAN	N	133	ENSP00000301891:D133N;ENSP00000366809:D133N;ENSP00000366804:D133N	ENSP00000301891:D133N	D	+	1	0	SLC22A11	64083186	1.000000	0.71417	0.998000	0.56505	0.823000	0.46562	2.018000	0.40991	0.278000	0.22164	0.485000	0.47835	GAC		0.637	SLC22A11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000104886.4	NM_018484		27	76	0	0	0	1	0	27	76					A	64326610	G	A	64326610	3	1	142	1	0	0	0	0	1	0	0	0	14442	1174	41	3	403	3	SLC22A11	11	64326610	Missense_Mutation	SNP	G	TCGA-FC-7961-01A-11D-A29Q-08	56889286	64326610	70679906	48	7113											
GDPD5	81544	broad.mit.edu	37	chr11	75146556	75146556	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acagacatgtcttcagctaaCgcccactccgctctatgagg	10	9	8	14	2	3	2	1	1	2	1	4	2	4	2	2	1	2	2	2	1	2	3	rs551593132	byFrequency	TCGA-FC-7961-01A-11D-A29Q-08	TCGA-FC-7961-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fdfbae-715d-4b84-9c40-5f5823a79bef	610916cc-7c38-42e8-8b8d-591284520b3e	g.chr11:75146556C>T	ENST00000336898.3	-	17	2651	c.1814G>A	c.(1813-1815)cGt>cAt	p.R605H	GDPD5_ENST00000533784.1_Missense_Mutation_p.R486H|GDPD5_ENST00000529721.1_Missense_Mutation_p.R605H|GDPD5_ENST00000526177.1_Missense_Mutation_p.R467H|GDPD5_ENST00000533805.1_Missense_Mutation_p.R360H|GDPD5_ENST00000443276.2_3'UTR|GDPD5_ENST00000376282.3_Missense_Mutation_p.R486H	NM_030792.6	NP_110419.5	Q8WTR4	GDPD5_HUMAN	glycerophosphodiester phosphodiesterase domain containing 5	605					cerebral cortex neuron differentiation (GO:0021895)|glycerol metabolic process (GO:0006071)|lipid metabolic process (GO:0006629)|negative regulation of Notch signaling pathway (GO:0045746)|neuron projection development (GO:0031175)|positive regulation of neuron differentiation (GO:0045666)|regulation of timing of cell differentiation (GO:0048505)|spinal cord motor neuron differentiation (GO:0021522)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	glycerophosphodiester phosphodiesterase activity (GO:0008889)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|skin(2)	20						CTTCAGCTAACGCCCACTCCG	0.592													C|||	4	0.000798722	0	0	5008	,	,		19386	0		0	False		,,,				2504	0.0041					ENST00000526177.1																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|skin(2)	20						c.(1399-1401)cGt>cAt		glycerophosphodiester phosphodiesterase domain containing 5							66	59	61					11																	75146556		2200	4293	6493	SO:0001583	missense	81544				glycerol metabolic process|lipid metabolic process|nervous system development	endomembrane system|growth cone|integral to membrane|perinuclear region of cytoplasm	glycerophosphodiester phosphodiesterase activity	g.chr11:75146556C>T	AF318377	CCDS8238.1	11q13.4-q13.5	2011-01-25				ENSG00000158555			28804	protein-coding gene	gene with protein product		609632				18667693, 17275818	Standard	NM_030792		Approved	PP1665, GDE2	uc001owp.4	Q8WTR4		ENST00000336898.3:c.1814G>A	11.37:g.75146556C>T	ENSP00000337972:p.Arg605His					GDPD5_ENST00000336898.3_Missense_Mutation_p.R605H|GDPD5_ENST00000529721.1_Missense_Mutation_p.R605H|GDPD5_ENST00000443276.2_3'UTR|GDPD5_ENST00000533784.1_Missense_Mutation_p.R486H|GDPD5_ENST00000533805.1_Missense_Mutation_p.R360H|GDPD5_ENST00000376282.3_Missense_Mutation_p.R486H	p.R467H			Q8WTR4	GDPD5_HUMAN			13	3278	-			605			GDPD.		Q49AQ5|Q6UX76|Q7Z4S0|Q8N781|Q8NCB7|Q8TB77	Missense_Mutation	SNP	ENST00000336898.3	37	c.1400G>A	CCDS8238.1	.	.	.	.	.	.	.	.	.	.	C	20.5	4.008051	0.75046	.	.	ENSG00000158555	ENST00000526177;ENST00000533784;ENST00000529721;ENST00000336898;ENST00000533805;ENST00000376282	T;T;T;T;T;T	0.16597	2.33;2.34;2.36;2.36;2.35;2.34	4.74	-1.98	0.07480	.	0.602094	0.15213	N	0.274342	T	0.06962	0.0177	N	0.08118	0	0.22266	N	0.999243	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.24941	-1.0146	10	0.87932	D	0	.	5.0714	0.14609	0.0:0.3104:0.1639:0.5257	.	486;605	Q8WTR4-2;Q8WTR4	.;GDPD5_HUMAN	H	467;486;605;605;360;486	ENSP00000434050:R467H;ENSP00000437049:R486H;ENSP00000433214:R605H;ENSP00000337972:R605H;ENSP00000435196:R360H;ENSP00000365459:R486H	ENSP00000337972:R605H	R	-	2	0	GDPD5	74824204	0.012000	0.17670	0.748000	0.31131	0.982000	0.71751	-0.589000	0.05767	-0.220000	0.09988	0.655000	0.94253	CGT		0.592	GDPD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384409.1	NM_030792		13	61	0	0	0	1	0	13	61					T	75146556	C	T	75146556	3	4	142	1	0	0	0	0	1	0	0	0	6327	536	19	1	7	1	GDPD5	11	75146556	Missense_Mutation	SNP	C	TCGA-FC-7961-01A-11D-A29Q-08	10819946	75146556	59859960	49	7114											
GUCY1A2	2977	broad.mit.edu	37	chr11	106810483	106810483	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gaggttccctgtggaaggttCttcatgatattagtattttc	8	17	10	6	0	2	1	1	1	1	0	4	3	3	2	1	3	0	3	1	3	4	8			TCGA-FC-7961-01A-11D-A29Q-08	TCGA-FC-7961-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fdfbae-715d-4b84-9c40-5f5823a79bef	610916cc-7c38-42e8-8b8d-591284520b3e	g.chr11:106810483C>T	ENST00000526355.2	-	4	1377	c.909G>A	c.(907-909)aaG>aaA	p.K303K	GUCY1A2_ENST00000347596.2_Silent_p.K303K|GUCY1A2_ENST00000282249.2_Silent_p.K303K	NM_000855.2	NP_000846.1	P33402	GCYA2_HUMAN	guanylate cyclase 1, soluble, alpha 2	303					blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|positive regulation of cGMP biosynthetic process (GO:0030828)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|heme binding (GO:0020037)			breast(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(18)|liver(1)|lung(32)|ovary(1)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	74		all_epithelial(67;3.66e-05)|Melanoma(852;0.000382)|Acute lymphoblastic leukemia(157;0.001)|all_hematologic(158;0.0017)|Breast(348;0.026)|all_neural(303;0.068)		BRCA - Breast invasive adenocarcinoma(274;8.04e-05)|Epithelial(105;0.0036)|all cancers(92;0.0476)	Isosorbide Mononitrate(DB01020)|Nitric Oxide(DB00435)	GTGGAAGGTTCTTCATGATAT	0.428																																						ENST00000526355.1																			0				breast(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(18)|liver(1)|lung(32)|ovary(1)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	74						c.(907-909)aaG>aaA		guanylate cyclase 1, soluble, alpha 2							82	80	80					11																	106810483		2201	4298	6499	SO:0001819	synonymous_variant	2977				intracellular signal transduction|platelet activation	cytoplasm	GTP binding|guanylate cyclase activity|heme binding	g.chr11:106810483C>T	X63282	CCDS8335.1, CCDS58170.1	11q21-q22	2008-03-18			ENSG00000152402	ENSG00000152402	4.6.1.2		4684	protein-coding gene	gene with protein product		601244		GUC1A2		1683630	Standard	NM_000855		Approved	GC-SA2	uc001pjg.2	P33402	OTTHUMG00000166296	ENST00000526355.2:c.909G>A	11.37:g.106810483C>T						GUCY1A2_ENST00000347596.2_Silent_p.K303K|GUCY1A2_ENST00000282249.2_Silent_p.K303K	p.K303K	NM_000855.2	NP_000846.1	P33402	GCYA2_HUMAN		BRCA - Breast invasive adenocarcinoma(274;8.04e-05)|Epithelial(105;0.0036)|all cancers(92;0.0476)	4	1377	-		all_epithelial(67;3.66e-05)|Melanoma(852;0.000382)|Acute lymphoblastic leukemia(157;0.001)|all_hematologic(158;0.0017)|Breast(348;0.026)|all_neural(303;0.068)	303					A1L4C4|B7ZLT5	Silent	SNP	ENST00000526355.2	37	c.909G>A	CCDS8335.1																																																																																				0.428	GUCY1A2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389003.2			9	35	0	0	0	1	0	9	35					T	106810483	C	T	106810483	2	4	142	1	0	0	0	0	0	0	0	1	6893	912	32	3		3	GUCY1A2	11	106810483	Silent	SNP	C	TCGA-FC-7961-01A-11D-A29Q-08	31663927	106810483	28196033	50	7115											
MLL	4297	broad.mit.edu	37	chr11	118343036	118343037	+	Frame_Shift_Ins	INS	-	-	A																															gggggctcaaaagaaaattgINSaaaaagaagcagctcagctg																										TCGA-FC-7961-01A-11D-A29Q-08	TCGA-FC-7961-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fdfbae-715d-4b84-9c40-5f5823a79bef	610916cc-7c38-42e8-8b8d-591284520b3e	g.chr11:118343036_118343037insA	ENST00000389506.5	+	3	1162_1163	c.1162_1163insA	c.(1162-1164)gaafs	p.E388fs	KMT2A_ENST00000534358.1_Frame_Shift_Ins_p.E388fs|KMT2A_ENST00000354520.4_Frame_Shift_Ins_p.E388fs			Q03164	KMT2A_HUMAN	lysine (K)-specific methyltransferase 2A	388					anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|DNA methylation (GO:0006306)|embryonic hemopoiesis (GO:0035162)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|histone H4-K16 acetylation (GO:0043984)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cellular response to drug (GO:2001040)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transporter activity (GO:0032411)|protein complex assembly (GO:0006461)|regulation of histone H3-K4 methylation (GO:0051569)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|histone methyltransferase complex (GO:0035097)|MLL1 complex (GO:0071339)|nucleus (GO:0005634)	AT DNA binding (GO:0003680)|chromatin binding (GO:0003682)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|identical protein binding (GO:0042802)|lysine-acetylated histone binding (GO:0070577)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|unmethylated CpG binding (GO:0045322)|zinc ion binding (GO:0008270)										AAAGAAAATTGAAAAAGAAGCA	0.431																																						ENST00000534358.1																			0											c.(1162-1164)aaafs		lysine (K)-specific methyltransferase 2A																																				SO:0001589	frameshift_variant	4297							g.chr11:118343036_118343037insA	L04284	CCDS31686.1, CCDS55791.1	11q23	2014-09-17	2013-05-09	2013-05-09	ENSG00000118058	ENSG00000118058		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	7132	protein-coding gene	gene with protein product		159555	"myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog)", "myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila)"	MLL		1720549	Standard	NM_001197104		Approved	TRX1, HRX, ALL-1, HTRX1, CXXC7, MLL1A		Q03164	OTTHUMG00000166337	ENST00000389506.5:c.1167dupA	11.37:g.118343041_118343041dupA	ENSP00000374157:p.Glu388fs					KMT2A_ENST00000354520.4_Frame_Shift_Ins_p.K388fs|KMT2A_ENST00000389506.5_Frame_Shift_Ins_p.K388fs	p.K388fs	NM_001197104.1|NM_005933.3	NP_001184033.1|NP_005924.2					3	1185_1186	+								E9PQG7|Q13743|Q13744|Q14845|Q16364|Q59FF2|Q6UBD1|Q9HBJ3|Q9UD94|Q9UMA3	Frame_Shift_Ins	INS	ENST00000389506.5	37	c.1162_1163insA	CCDS31686.1																																																																																				0.431	KMT2A-015	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399085.2	NM_005933		13	81						13	81	---	---	---	---	A	118343037	-	A	118343036	7	5	142	1	0	1	1	0	0	0	0	0	9620	1291	45	0	1172	0	MLL	11	118343036	Frame_Shift_Ins	INS	-	TCGA-FC-7961-01A-11D-A29Q-08	11532553	118343036	16663480	51	7116											
CHD4	1108	broad.mit.edu	37	chr12	6703665	6703665	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggaagactgctgtctgtacaGttttcccaaggcccatctca	9	11	9	12	0	2	1	1	0	2	1	4	2	3	2	2	2	2	3	2	2	3	3			TCGA-FC-7961-01A-11D-A29Q-08	TCGA-FC-7961-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fdfbae-715d-4b84-9c40-5f5823a79bef	610916cc-7c38-42e8-8b8d-591284520b3e	g.chr12:6703665G>A	ENST00000357008.2	-	15	2436	c.2273C>T	c.(2272-2274)aCt>aTt	p.T758I	CHD4_ENST00000544040.1_Missense_Mutation_p.T751I|CHD4_ENST00000544484.1_Missense_Mutation_p.T755I|CHD4_ENST00000309577.6_Missense_Mutation_p.T758I	NM_001273.2	NP_001264.2	Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	758	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				ATP-dependent chromatin remodeling (GO:0043044)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|spindle assembly (GO:0051225)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|NuRD complex (GO:0016581)|protein complex (GO:0043234)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|RNA polymerase II repressing transcription factor binding (GO:0001103)|zinc ion binding (GO:0008270)			central_nervous_system(2)	2						TGTCTGTACAGTTTTCCCAAG	0.493																																					Colon(32;586 792 4568 16848 45314)	ENST00000309577.6																			0				central_nervous_system(2)	2						c.(2272-2274)aCt>aTt		chromodomain helicase DNA binding protein 4							129	122	125					12																	6703665		2203	4300	6503	SO:0001583	missense	1108				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding	g.chr12:6703665G>A	X86691	CCDS8552.1	12p13	2013-01-28				ENSG00000111642		"Zinc fingers, PHD-type"	1919	protein-coding gene	gene with protein product		603277				7575689, 8843877	Standard	XM_006718958		Approved	Mi-2b, Mi2-BETA	uc001qpo.3	Q14839		ENST00000357008.2:c.2273C>T	12.37:g.6703665G>A	ENSP00000349508:p.Thr758Ile					CHD4_ENST00000544484.1_Missense_Mutation_p.T755I|CHD4_ENST00000357008.2_Missense_Mutation_p.T758I|CHD4_ENST00000544040.1_Missense_Mutation_p.T751I	p.T758I			Q14839	CHD4_HUMAN			15	2436	-			758			Helicase ATP-binding.		Q8IXZ5	Missense_Mutation	SNP	ENST00000357008.2	37	c.2273C>T	CCDS8552.1	.	.	.	.	.	.	.	.	.	.	G	29.9	5.043151	0.93685	.	.	ENSG00000111642	ENST00000544484;ENST00000544040;ENST00000309577;ENST00000357008;ENST00000537464	D;D;D;D	0.99298	-5.71;-5.71;-5.71;-5.71	5.17	5.17	0.71159	DEAD-like helicase (2);SNF2-related (1);	0.000000	0.85682	D	0.000000	D	0.99771	0.9906	H	0.99634	4.67	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.97110	0.997;1.0;0.994	D	0.96738	0.9544	10	0.87932	D	0	.	18.8674	0.92298	0.0:0.0:1.0:0.0	.	758;758;751	Q14839-2;Q14839;F5GWX5	.;CHD4_HUMAN;.	I	755;751;758;758;732	ENSP00000440392:T755I;ENSP00000440542:T751I;ENSP00000312419:T758I;ENSP00000349508:T758I	ENSP00000312419:T758I	T	-	2	0	CHD4	6573926	1.000000	0.71417	0.991000	0.47740	0.990000	0.78478	9.623000	0.98386	2.686000	0.91538	0.591000	0.81541	ACT		0.493	CHD4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001273		26	62	0	0	0	1	0	26	62					A	6703665	G	A	6703665	3	1	142	1	0	0	0	0	1	0	0	0	3327	1029	36	3	3569	3	CHD4	12	6703665	Missense_Mutation	SNP	G	TCGA-FC-7961-01A-11D-A29Q-08		6703665	127148230	52	7117											
SOAT2	8435	broad.mit.edu	37	chr12	53509947	53509947	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgggacccttcgtgccagaCgaggtgaggccttcatcttg	6	10	13	12	2	2	2	1	1	1	1	3	4	2	3	3	3	1	0	3	3	0	3			TCGA-FC-7961-01A-11D-A29Q-08	TCGA-FC-7961-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fdfbae-715d-4b84-9c40-5f5823a79bef	610916cc-7c38-42e8-8b8d-591284520b3e	g.chr12:53509947C>T	ENST00000301466.3	+	7	835	c.775C>T	c.(775-777)Cga>Tga	p.R259*		NM_003578.3	NP_003569.1	O75908	SOAT2_HUMAN	sterol O-acyltransferase 2	259					cholesterol efflux (GO:0033344)|cholesterol esterification (GO:0034435)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|intestinal cholesterol absorption (GO:0030299)|macrophage derived foam cell differentiation (GO:0010742)|very-low-density lipoprotein particle assembly (GO:0034379)	brush border (GO:0005903)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	cholesterol binding (GO:0015485)|cholesterol O-acyltransferase activity (GO:0034736)|fatty-acyl-CoA binding (GO:0000062)|transferase activity, transferring acyl groups (GO:0016746)			endometrium(5)|kidney(3)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|skin(1)	18					Hesperetin(DB01094)	TCGTGCCAGACGAGGTGAGGC	0.542																																						ENST00000301466.3																			0				endometrium(5)|kidney(3)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|skin(1)	18						c.(775-777)Cga>Tga		sterol O-acyltransferase 2							144	121	129					12																	53509947		2203	4300	6503	SO:0001587	stop_gained	8435				cholesterol efflux|cholesterol esterification|cholesterol homeostasis|cholesterol metabolic process|macrophage derived foam cell differentiation|very-low-density lipoprotein particle assembly	brush border|endoplasmic reticulum membrane|integral to membrane|microsome	cholesterol binding|cholesterol O-acyltransferase activity|fatty-acyl-CoA binding	g.chr12:53509947C>T	AF059203	CCDS8847.1	12q13.13	2012-09-20			ENSG00000167780	ENSG00000167780	2.3.1.26		11178	protein-coding gene	gene with protein product		601311				9756920	Standard	NM_003578		Approved	ACAT2	uc001sbv.3	O75908	OTTHUMG00000169774	ENST00000301466.3:c.775C>T	12.37:g.53509947C>T	ENSP00000301466:p.Arg259*						p.R259*	NM_003578.3	NP_003569.1	O75908	SOAT2_HUMAN			7	835	+			259					F5H7W4|I6L9H9|Q4VB99|Q4VBA1|Q96TD4|Q9UNR2	Nonsense_Mutation	SNP	ENST00000301466.3	37	c.775C>T	CCDS8847.1	.	.	.	.	.	.	.	.	.	.	C	14.90	2.674005	0.47781	.	.	ENSG00000167780	ENST00000301466	.	.	.	4.96	2.11	0.27256	.	0.542173	0.18630	N	0.135612	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.20519	T	0.43	0.0987	2.2549	0.04052	0.1584:0.1263:0.4835:0.2318	.	.	.	.	X	259	.	ENSP00000301466:R259X	R	+	1	2	SOAT2	51796214	1.000000	0.71417	0.999000	0.59377	0.334000	0.28698	1.022000	0.30052	0.352000	0.24053	-1.897000	0.00531	CGA		0.542	SOAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405817.1			6	60	0	0	0	1	0	6	60					T	53509947	C	T	53509947	4	4	142	1	0	0	0	0	0	1	0	0	14911	528	19	1	801	1	SOAT2	12	53509947	Nonsense_Mutation	SNP	C	TCGA-FC-7961-01A-11D-A29Q-08	46806282	53509947	80341948	53	7118											
FAM123A	219287	broad.mit.edu	37	chr13	25744275	25744275	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atggggctcgatgggaatccGgttgagcctcctgcgcttga	6	10	15	10	3	0	2	0	2	0	0	3	4	2	3	3	4	2	3	3	4	1	2	rs372214037		TCGA-FC-7961-01A-11D-A29Q-08	TCGA-FC-7961-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fdfbae-715d-4b84-9c40-5f5823a79bef	610916cc-7c38-42e8-8b8d-591284520b3e	g.chr13:25744275G>T	ENST00000515384.1	-	1	2150	c.1483C>A	c.(1483-1485)Cgg>Agg	p.R495R	AMER2-AS1_ENST00000413501.1_lincRNA|AMER2_ENST00000381853.3_Silent_p.R376R|AMER2_ENST00000357816.2_Silent_p.R376R			Q8N7J2	AMER2_HUMAN	APC membrane recruitment protein 2	495					ectoderm development (GO:0007398)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|Wnt signaling pathway (GO:0016055)	plasma membrane (GO:0005886)	phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)										ATGGGAATCCGGTTGAGCCTC	0.642																																						ENST00000357816.2																			0											c.(1126-1128)Cgg>Agg		APC membrane recruitment protein 2							46	44	45					13																	25744275		2203	4300	6503	SO:0001819	synonymous_variant	219287							g.chr13:25744275G>T	AK055049	CCDS9312.1, CCDS53859.1	13q12.13	2013-10-11	2012-12-03	2012-12-03	ENSG00000165566	ENSG00000165566		"-"	26360	protein-coding gene	gene with protein product		614659	"family with sequence similarity 123A"	FAM123A		20843316	Standard	XM_005266279		Approved	FLJ25477	uc001uqb.3	Q8N7J2	OTTHUMG00000016602	ENST00000515384.1:c.1483C>A	13.37:g.25744275G>T						AMER2_ENST00000381853.3_Silent_p.R376R|AMER2_ENST00000515384.1_Silent_p.R495R	p.R376R							3	1601	-								Q5RL80|Q5VX56|Q8N593|Q96NN5	Silent	SNP	ENST00000515384.1	37	c.1126C>A	CCDS53859.1																																																																																				0.642	AMER2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000370229.1	NM_152704		9	56	1	0	3.09899e-07	1	3.50145e-07	9	56					T	25744275	G	T	25744275	2	4	142	1	0	0	0	0	0	0	0	1	5422	1115	39	5		5	FAM123A	13	25744275	Silent	SNP	G	TCGA-FC-7961-01A-11D-A29Q-08		25744275	89425603	54	7119											
SNAPC1	6617	broad.mit.edu	37	chr14	62233593	62233593	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tattttctctctgtttattaGtggcagaatgagaaatttag	11	18	8	4	0	2	2	0	1	2	2	3	3	2	2	0	1	0	2	0	1	6	8			TCGA-FC-7961-01A-11D-A29Q-08	TCGA-FC-7961-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fdfbae-715d-4b84-9c40-5f5823a79bef	610916cc-7c38-42e8-8b8d-591284520b3e	g.chr14:62233593G>T	ENST00000216294.4	+	2	232		c.e2-1		RP11-618G20.1_ENST00000555937.1_RNA	NM_003082.3	NP_003073.1	Q16533	SNPC1_HUMAN	small nuclear RNA activating complex, polypeptide 1, 43kDa						gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase III promoter (GO:0006383)	nucleoplasm (GO:0005654)	DNA binding (GO:0003677)			endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)	13				OV - Ovarian serous cystadenocarcinoma(108;0.0639)|BRCA - Breast invasive adenocarcinoma(234;0.186)		CTGTTTATTAGTGGCAGAATG	0.308																																					NSCLC(27;223 907 37180 39193 46568)	ENST00000216294.4																			0				endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)	13						c.e2-1		small nuclear RNA activating complex, polypeptide 1, 43kDa							63	65	65					14																	62233593		2203	4298	6501	SO:0001630	splice_region_variant	6617				regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding	g.chr14:62233593G>T	Z47542	CCDS9755.1	14q22	2008-08-11	2002-08-29		ENSG00000023608	ENSG00000023608			11134	protein-coding gene	gene with protein product		600591	"small nuclear RNA activating complex, polypeptide 1, 43kD"			9644240	Standard	NM_003082		Approved	SNAP43, PTFgamma	uc001xft.3	Q16533	OTTHUMG00000140343	ENST00000216294.4:c.129-1G>T	14.37:g.62233593G>T						RP11-618G20.1_ENST00000555937.1_RNA		NM_003082.3	NP_003073.1	Q16533	SNPC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0639)|BRCA - Breast invasive adenocarcinoma(234;0.186)	2	232	+									Splice_Site	SNP	ENST00000216294.4	37		CCDS9755.1	.	.	.	.	.	.	.	.	.	.	G	15.27	2.784438	0.49997	.	.	ENSG00000023608	ENST00000216294	.	.	.	5.76	5.76	0.90799	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.3242	0.98691	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SNAPC1	61303346	1.000000	0.71417	1.000000	0.80357	0.460000	0.32559	8.078000	0.89507	2.882000	0.98803	0.655000	0.94253	.		0.308	SNAPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276976.2	NM_003082	Intron	8	14	1	0	5.18039e-06	1	5.70499e-06	8	14					T	62233593	G	T	62233593	5	4	142	1	0	0	0	0	0	0	1	0	14834	1043	36	5	134	5	SNAPC1	14	62233593	Splice_Site	SNP	G	TCGA-FC-7961-01A-11D-A29Q-08		62233593	45115947	55	7120											
ATP8B4	79895	broad.mit.edu	37	chr15	50158587	50158587	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agatgccaaagatgccattaCtgtgcattgtaaataaaatg	16	11	8	6	0	0	2	0	0	0	2	0	2	0	2	2	0	4	2	2	0	6	4			TCGA-FC-7961-01A-11D-A29Q-08	TCGA-FC-7961-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fdfbae-715d-4b84-9c40-5f5823a79bef	610916cc-7c38-42e8-8b8d-591284520b3e	g.chr15:50158587C>T	ENST00000284509.6	-	26	3263	c.3122G>A	c.(3121-3123)aGt>aAt	p.S1041N	ATP8B4_ENST00000559829.1_Missense_Mutation_p.S1041N	NM_024837.2	NP_079113.2	Q8TF62	AT8B4_HUMAN	ATPase, class I, type 8B, member 4	1041						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1)	73		all_lung(180;0.00183)		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)		GATGCCATTACTGTGCATTGT	0.403																																						ENST00000284509.6																			0				breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1)	73						c.(3121-3123)aGt>aAt		ATPase, class I, type 8B, member 4							102	93	96					15																	50158587		2196	4295	6491	SO:0001583	missense	79895				ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr15:50158587C>T	AB075819	CCDS32238.1	15q21.2	2010-04-20	2007-09-19		ENSG00000104043	ENSG00000104043		"ATPases / P-type"	13536	protein-coding gene	gene with protein product		609123	"ATPase, Class I, type 8B, member 4"			11015572	Standard	NM_024837		Approved	ATPIM, KIAA1939	uc001zxu.3	Q8TF62		ENST00000284509.6:c.3122G>A	15.37:g.50158587C>T	ENSP00000284509:p.Ser1041Asn					ATP8B4_ENST00000559829.1_Missense_Mutation_p.S1041N	p.S1041N	NM_024837.2	NP_079113.2	Q8TF62	AT8B4_HUMAN		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)	26	3263	-		all_lung(180;0.00183)	1041					Q9H727	Missense_Mutation	SNP	ENST00000284509.6	37	c.3122G>A	CCDS32238.1	.	.	.	.	.	.	.	.	.	.	C	19.69	3.875313	0.72180	.	.	ENSG00000104043	ENST00000284509	D	0.88818	-2.43	5.15	5.15	0.70609	.	0.047234	0.85682	D	0.000000	D	0.93164	0.7823	M	0.69463	2.115	0.43110	D	0.994819	D;D	0.65815	0.995;0.991	D;D	0.68621	0.959;0.91	D	0.92599	0.6089	10	0.40728	T	0.16	.	16.4737	0.84125	0.0:1.0:0.0:0.0	.	119;1041	Q6PG43;Q8TF62	.;AT8B4_HUMAN	N	1041	ENSP00000284509:S1041N	ENSP00000284509:S1041N	S	-	2	0	ATP8B4	47945879	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.004000	0.70709	2.541000	0.85698	0.591000	0.81541	AGT		0.403	ATP8B4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418100.1	NM_024837		23	68	0	0	0	1	0	23	68					T	50158587	C	T	50158587	3	4	142	1	0	0	0	0	1	0	0	0	1197	565	20	3	468	3	ATP8B4	15	50158587	Missense_Mutation	SNP	C	TCGA-FC-7961-01A-11D-A29Q-08		50158587	52372805	56	7121											
SEPX1	51734	broad.mit.edu	37	chr16	1990838	1990838	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	atcgggactgccccggcttgGggccgtcgttcaggaactcg	5	8	15	13	5	1	0	1	0	0	0	4	2	1	2	3	5	2	2	3	5	1	2			TCGA-FC-7961-01A-11D-A29Q-08	TCGA-FC-7961-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fdfbae-715d-4b84-9c40-5f5823a79bef	610916cc-7c38-42e8-8b8d-591284520b3e	g.chr16:1990838G>T	ENST00000361871.3	-	3	429	c.260C>A	c.(259-261)cCc>cAc	p.P87H	MSRB1_ENST00000564908.1_Silent_p.P133P|MSRB1_ENST00000489198.1_5'Flank|MSRB1_ENST00000399753.2_Silent_p.P208P	NM_016332.2	NP_057416.1	Q9NZV6	MSRB1_HUMAN	methionine sulfoxide reductase B1	87					actin filament polymerization (GO:0030041)|innate immune response (GO:0045087)|protein repair (GO:0030091)|response to oxidative stress (GO:0006979)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	actin binding (GO:0003779)|methionine-R-sulfoxide reductase activity (GO:0070191)|peptide-methionine (R)-S-oxide reductase activity (GO:0033743)|zinc ion binding (GO:0008270)									L-Methionine(DB00134)	CCCCGGCTTGGGGCCGTCGTT	0.577																																						ENST00000361871.3																			0											c.(259-261)cCc>cAc		methionine sulfoxide reductase B1	L-Methionine(DB00134)						43	45	44					16																	1990838		1930	4135	6065	SO:0001583	missense	51734				protein repair	cytoplasm|nucleus	peptide-methionine-(S)-S-oxide reductase activity|zinc ion binding	g.chr16:1990838G>T	AF166124	CCDS42100.1	16p13.3	2012-05-22	2012-03-01	2012-03-01	ENSG00000198736	ENSG00000198736			14133	protein-coding gene	gene with protein product		606216	"selenoprotein X, 1"	SEPX1		10608886, 20634897	Standard	NM_016332		Approved	SelR, SepR, SelX	uc021tam.1	Q9NZV6	OTTHUMG00000129143	ENST00000361871.3:c.260C>A	16.37:g.1990838G>T	ENSP00000355084:p.Pro87His					MSRB1_ENST00000564908.1_Silent_p.P133P|MSRB1_ENST00000399753.2_Silent_p.P208P	p.P87H	NM_016332.2	NP_057416.1	Q9NZV6	MSRB1_HUMAN			3	429	-			87					Q96RX6|Q9BTV2|Q9P0B1	Missense_Mutation	SNP	ENST00000361871.3	37	c.260C>A	CCDS42100.1	.	.	.	.	.	.	.	.	.	.	G	16.27	3.076825	0.55753	.	.	ENSG00000198736	ENST00000361871	T	0.78707	-1.2	4.61	3.64	0.41730	Mss4-like (1);Methionine sulphoxide reductase B (2);	0.000000	0.85682	D	0.000000	D	0.91081	0.7193	H	0.96576	3.845	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.92245	0.5804	10	0.87932	D	0	.	11.2958	0.49277	0.0908:0.0:0.9092:0.0	.	87	Q9NZV6	MSRB1_HUMAN	H	87	ENSP00000355084:P87H	ENSP00000355084:P87H	P	-	2	0	SEPX1	1930839	1.000000	0.71417	0.993000	0.49108	0.191000	0.23601	7.326000	0.79133	0.916000	0.36871	0.650000	0.86243	CCC		0.577	MSRB1-001	KNOWN	basic|appris_principal|CCDS|seleno	protein_coding	protein_coding	OTTHUMT00000251203.1	NM_016332		6	72	1	0	4.096e-09	1	4.75136e-09	6	72					T	1990838	G	T	1990838	3	4	142	1	0	0	0	0	1	0	0	0	14073	1232	43	5	98	5	SEPX1	16	1990838	Missense_Mutation	SNP	G	TCGA-FC-7961-01A-11D-A29Q-08		1990838	88363915	57	7122											
ADCY9	115	broad.mit.edu	37	chr16	4165101	4165101	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaagagcgcataccggaaccGgcgctgggtctgcgggaagc	9	4	17	11	5	1	1	0	0	1	1	1	4	1	3	2	4	5	2	2	4	4	1			TCGA-FC-7961-01A-11D-A29Q-08	TCGA-FC-7961-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fdfbae-715d-4b84-9c40-5f5823a79bef	610916cc-7c38-42e8-8b8d-591284520b3e	g.chr16:4165101G>A	ENST00000294016.3	-	2	881	c.343C>T	c.(343-345)Cgg>Tgg	p.R115W		NM_001116.3	NP_001107.2	O60503	ADCY9_HUMAN	adenylate cyclase 9	115					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						TACCGGAACCGGCGCTGGGTC	0.627																																						ENST00000294016.3																			0				breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						c.(343-345)Cgg>Tgg		adenylate cyclase 9							53	61	58					16																	4165101		2197	4300	6497	SO:0001583	missense	115				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding	g.chr16:4165101G>A	AF036927	CCDS32382.1	16p13.3	2013-02-04				ENSG00000162104	4.6.1.1	"Adenylate cyclases"	240	protein-coding gene	gene with protein product		603302				9628827	Standard	NM_001116		Approved	AC9	uc002cvx.3	O60503		ENST00000294016.3:c.343C>T	16.37:g.4165101G>A	ENSP00000294016:p.Arg115Trp						p.R115W	NM_001116.3	NP_001107.2	O60503	ADCY9_HUMAN			2	881	-			115					A7E2V5|A7E2X2|D3DUD1|O60273|Q4ZHT9|Q4ZIR5|Q9BWT4|Q9UGP2	Missense_Mutation	SNP	ENST00000294016.3	37	c.343C>T	CCDS32382.1	.	.	.	.	.	.	.	.	.	.	G	18.38	3.610380	0.66558	.	.	ENSG00000162104	ENST00000294016	T	0.74842	-0.88	5.32	4.27	0.50696	.	0.000000	0.85682	D	0.000000	D	0.84665	0.5522	M	0.69823	2.125	0.58432	D	0.999998	D	0.89917	1.0	D	0.73708	0.981	D	0.86721	0.1942	10	0.87932	D	0	.	15.8774	0.79178	0.0:0.0:0.775:0.225	.	115	O60503	ADCY9_HUMAN	W	115	ENSP00000294016:R115W	ENSP00000294016:R115W	R	-	1	2	ADCY9	4105102	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	2.766000	0.47629	2.501000	0.84356	0.555000	0.69702	CGG		0.627	ADCY9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438076.1			13	59	0	0	0	1	0	13	59					A	4165101	G	A	4165101	3	1	142	1	0	0	0	0	1	0	0	0	301	1115	39	2	3758	2	ADCY9	16	4165101	Missense_Mutation	SNP	G	TCGA-FC-7961-01A-11D-A29Q-08	2174263	4165101	86189652	58	7123											
PYCARD	29108	broad.mit.edu	37	chr16	31213495	31213495	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ggctgccgactgaggaggggCctggatcccagctggcgcgg	5	5	19	12	3	0	1	0	1	0	0	1	4	1	3	3	7	2	2	3	7	0	0			TCGA-FC-7961-01A-11D-A29Q-08	TCGA-FC-7961-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fdfbae-715d-4b84-9c40-5f5823a79bef	610916cc-7c38-42e8-8b8d-591284520b3e	g.chr16:31213495C>T	ENST00000247470.9	-	2	605	c.304G>A	c.(304-306)Gcc>Acc	p.A102T	C16orf98_ENST00000561916.2_Intron|PYCARD_ENST00000350605.4_Intron	NM_013258.4	NP_037390.2	Q9ULZ3	ASC_HUMAN	PYD and CARD domain containing	102					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of innate immune response (GO:0002218)|apoptotic process (GO:0006915)|cellular response to interleukin-1 (GO:0071347)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to tumor necrosis factor (GO:0071356)|defense response to Gram-negative bacterium (GO:0050829)|defense response to virus (GO:0051607)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|macropinocytosis (GO:0044351)|myeloid dendritic cell activation (GO:0001773)|myeloid dendritic cell activation involved in immune response (GO:0002277)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of interferon-beta production (GO:0032688)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of adaptive immune response (GO:0002821)|positive regulation of antigen processing and presentation of peptide antigen via MHC class II (GO:0002588)|positive regulation of apoptotic process (GO:0043065)|positive regulation of chemokine secretion (GO:0090197)|positive regulation of cysteine-type endopeptidase activity (GO:2001056)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of interleukin-10 secretion (GO:2001181)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-6 secretion (GO:2000778)|positive regulation of interleukin-8 secretion (GO:2000484)|positive regulation of JNK cascade (GO:0046330)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of phagocytosis (GO:0050766)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell migration (GO:2000406)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of intrinsic apoptotic signaling pathway (GO:2001242)|regulation of protein stability (GO:0031647)|regulation of tumor necrosis factor-mediated signaling pathway (GO:0010803)|signal transduction (GO:0007165)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	AIM2 inflammasome complex (GO:0097169)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|IkappaB kinase complex (GO:0008385)|mitochondrion (GO:0005739)|NLRP1 inflammasome complex (GO:0072558)|NLRP3 inflammasome complex (GO:0072559)|nucleolus (GO:0005730)|nucleus (GO:0005634)	cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|protein homodimerization activity (GO:0042803)|Pyrin domain binding (GO:0032090)			NS(1)|kidney(1)	2						TGAGGAGGGGCCTGGATCCCA	0.701																																						ENST00000247470.9																			0				NS(1)|kidney(1)	2						c.(304-306)Gcc>Acc		PYD and CARD domain containing							21	25	24					16																	31213495		2196	4297	6493	SO:0001583	missense	29108				induction of apoptosis|positive regulation of interleukin-1 beta secretion|positive regulation of NF-kappaB transcription factor activity|proteolysis|tumor necrosis factor-mediated signaling pathway	IkappaB kinase complex	caspase activator activity|cysteine-type endopeptidase activity|protein homodimerization activity|Pyrin domain binding	g.chr16:31213495C>T	AB023416	CCDS10708.1, CCDS10709.1	16p11.2	2013-01-22			ENSG00000103490	ENSG00000103490			16608	protein-coding gene	gene with protein product		606838					Standard	NM_013258		Approved	TMS-1, CARD5, ASC	uc010cak.3	Q9ULZ3	OTTHUMG00000176753	ENST00000247470.9:c.304G>A	16.37:g.31213495C>T	ENSP00000247470:p.Ala102Thr					C16orf98_ENST00000561916.2_Intron|PYCARD_ENST00000350605.4_Intron	p.A102T	NM_013258.4	NP_037390.2	Q9ULZ3	ASC_HUMAN			2	605	-			102					Q96D12|Q9BSZ5|Q9HBD0|Q9NXJ8	Missense_Mutation	SNP	ENST00000247470.9	37	c.304G>A	CCDS10708.1	.	.	.	.	.	.	.	.	.	.	C	12.90	2.076956	0.36662	.	.	ENSG00000103490	ENST00000247470;ENST00000355986	T	0.70749	-0.51	3.31	1.26	0.21427	.	1.707430	0.03267	N	0.184210	T	0.60728	0.2291	L	0.40543	1.245	0.19300	N	0.99997	B	0.22211	0.066	B	0.18561	0.022	T	0.40079	-0.9582	10	0.35671	T	0.21	.	4.5341	0.12020	0.0:0.6403:0.2303:0.1294	.	102	Q9ULZ3	ASC_HUMAN	T	102;42	ENSP00000247470:A102T	ENSP00000247470:A102T	A	-	1	0	PYCARD	31120996	0.000000	0.05858	0.002000	0.10522	0.320000	0.28249	0.675000	0.25232	0.381000	0.24851	0.655000	0.94253	GCC		0.701	PYCARD-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255539.13	NM_013258		11	28	0	0	0	1	0	11	28					T	31213495	C	T	31213495	3	4	142	1	0	0	0	0	1	0	0	0	12854	739	26	3	291	3	PYCARD	16	31213495	Missense_Mutation	SNP	C	TCGA-FC-7961-01A-11D-A29Q-08	27048394	31213495	59141258	59	7124											
SPOP	8405	broad.mit.edu	37	chr17	47696425	47696425	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctacggatgaatttcttgAatccccagtctttgccttgc	7	15	7	12	1	3	2	0	2	3	0	4	3	4	3	3	1	3	0	3	1	3	5			TCGA-FC-7961-01A-11D-A29Q-08	TCGA-FC-7961-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fdfbae-715d-4b84-9c40-5f5823a79bef	610916cc-7c38-42e8-8b8d-591284520b3e	g.chr17:47696425A>C	ENST00000393328.2	-	6	763	c.398T>G	c.(397-399)tTc>tGc	p.F133C	SPOP_ENST00000513080.1_5'Flank|SPOP_ENST00000393331.3_Missense_Mutation_p.F133C|SPOP_ENST00000347630.2_Missense_Mutation_p.F133C|SPOP_ENST00000503676.1_Missense_Mutation_p.F133C|SPOP_ENST00000504102.1_Missense_Mutation_p.F133C	NM_003563.3	NP_003554.1	O43791	SPOP_HUMAN	speckle-type POZ protein	133	Important for binding substrate proteins.|MATH. {ECO:0000255|PROSITE- ProRule:PRU00129}.|Required for nuclear localization.				glucose homeostasis (GO:0042593)|positive regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902237)|positive regulation of type B pancreatic cell apoptotic process (GO:2000676)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	Cul3-RING ubiquitin ligase complex (GO:0031463)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	ubiquitin protein ligase binding (GO:0031625)	p.F133C(3)|p.F133S(2)		endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						GAATTTCTTGAATCCCCAGTC	0.448										Prostate(2;0.17)																												ENST00000393331.3																			5	Substitution - Missense(5)	p.F133C(3)|p.F133S(2)	prostate(5)	endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						c.(397-399)tTc>tGc		speckle-type POZ protein							119	120	120					17																	47696425		2203	4300	6503	SO:0001583	missense	8405				mRNA processing	nucleus	protein binding	g.chr17:47696425A>C	AJ000644	CCDS11551.1	17q21.33	2013-01-09			ENSG00000121067	ENSG00000121067		"BTB/POZ domain containing"	11254	protein-coding gene	gene with protein product		602650				9414087	Standard	NM_001007227		Approved	TEF2, BTBD32	uc002ipg.3	O43791	OTTHUMG00000161496	ENST00000393328.2:c.398T>G	17.37:g.47696425A>C	ENSP00000377001:p.Phe133Cys	Prostate(2;0.17)				SPOP_ENST00000393328.2_Missense_Mutation_p.F133C|SPOP_ENST00000347630.2_Missense_Mutation_p.F133C|SPOP_ENST00000504102.1_Missense_Mutation_p.F133C|SPOP_ENST00000503676.1_Missense_Mutation_p.F133C	p.F133C	NM_001007226.1|NM_001007227.1	NP_001007227.1|NP_001007228.1	O43791	SPOP_HUMAN			7	868	-			133			MATH.|Required for nuclear localization.		B2R6S3|D3DTW7|Q53HJ1	Missense_Mutation	SNP	ENST00000393328.2	37	c.398T>G	CCDS11551.1	.	.	.	.	.	.	.	.	.	.	A	20.8	4.055575	0.75960	.	.	ENSG00000121067	ENST00000393328;ENST00000393331;ENST00000347630;ENST00000504102;ENST00000503536;ENST00000503676;ENST00000513872;ENST00000509079;ENST00000505581;ENST00000507970;ENST00000514121	T;T;T;T;T;T;T;T;T	0.46063	0.88;0.88;0.88;0.88;0.88;0.88;0.88;0.88;0.88	5.41	5.41	0.78517	TRAF-type (1);TRAF-like (1);MATH (3);	0.000000	0.85682	D	0.000000	T	0.64789	0.2630	M	0.76328	2.33	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.67321	-0.5700	10	0.54805	T	0.06	-9.6576	15.258	0.73599	1.0:0.0:0.0:0.0	.	133	O43791	SPOP_HUMAN	C	133;133;133;133;17;133;86;133;133;133;133	ENSP00000377001:F133C;ENSP00000377004:F133C;ENSP00000240327:F133C;ENSP00000425905:F133C;ENSP00000420908:F133C;ENSP00000426986:F133C;ENSP00000420960:F133C;ENSP00000426262:F133C;ENSP00000424119:F133C	ENSP00000240327:F133C	F	-	2	0	SPOP	45051424	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.131000	0.94446	2.261000	0.74972	0.460000	0.39030	TTC		0.448	SPOP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365154.2	NM_003563		29	126	0	0	0	1	0	29	126					C	47696425	A	C	47696425	3	2	142	1	0	0	0	0	1	0	0	0	15083	246	9	5	750	5	SPOP	17	47696425	Missense_Mutation	SNP	A	TCGA-FC-7961-01A-11D-A29Q-08		47696425	33498785	60	7125											
COX11	1353	broad.mit.edu	37	chr17	53040259	53040259	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcttggggattaagcctttgTtcttcaaaacagaagcactg	11	13	9	8	0	3	1	1	0	2	1	3	2	3	2	1	2	3	2	1	2	4	5			TCGA-FC-7961-01A-11D-A29Q-08	TCGA-FC-7961-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fdfbae-715d-4b84-9c40-5f5823a79bef	610916cc-7c38-42e8-8b8d-591284520b3e	g.chr17:53040259T>G	ENST00000299335.3	-	4	804	c.666A>C	c.(664-666)gaA>gaC	p.E222D	COX11_ENST00000573912.1_5'Flank	NM_004375.3	NP_004366.1	Q9Y6N1	COX11_HUMAN	cytochrome c oxidase assembly homolog 11 (yeast)	222					hydrogen ion transmembrane transport (GO:1902600)|negative regulation of glucokinase activity (GO:0033132)|respiratory chain complex IV assembly (GO:0008535)|respiratory gaseous exchange (GO:0007585)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	copper ion binding (GO:0005507)|cytochrome-c oxidase activity (GO:0004129)|electron carrier activity (GO:0009055)			endometrium(1)|kidney(1)|large_intestine(1)|liver(2)|lung(2)|ovary(1)|prostate(1)	9						TAAGCCTTTGTTCTTCAAAAC	0.308																																						ENST00000299335.3																			0				endometrium(1)|kidney(1)|large_intestine(1)|liver(2)|lung(2)|ovary(1)|prostate(1)	9						c.(664-666)gaA>gaC		cytochrome c oxidase assembly homolog 11 (yeast)							67	66	67					17																	53040259		2203	4300	6503	SO:0001583	missense	1353				respiratory chain complex IV assembly|respiratory gaseous exchange	integral to membrane|mitochondrial inner membrane	copper ion binding|cytochrome-c oxidase activity|electron carrier activity	g.chr17:53040259T>G	AF044321	CCDS11583.1, CCDS58579.1	17q22	2012-10-15	2012-10-15			ENSG00000166260		"Mitochondrial respiratory chain complex assembly factors"	2261	protein-coding gene	gene with protein product	"cytochrome c oxidase subunit 11", "cytochrome c oxidase assembly protein COX11"	603648	"COX11 (yeast) homolog, cytochrome c oxidase assembly protein", "COX11 cytochrome c oxidase assembly homolog (yeast)"			9878253	Standard	NM_004375		Approved	COX11P	uc010wng.1	Q9Y6N1		ENST00000299335.3:c.666A>C	17.37:g.53040259T>G	ENSP00000299335:p.Glu222Asp						p.E222D	NM_004375.3	NP_004366.1	Q9Y6N1	COX11_HUMAN			4	804	-			222					D3DTY5|I3L220|Q6FHB7|Q9BRX0|Q9UME8	Missense_Mutation	SNP	ENST00000299335.3	37	c.666A>C	CCDS11583.1	.	.	.	.	.	.	.	.	.	.	T	21.7	4.186095	0.78789	.	.	ENSG00000166260	ENST00000299335	T	0.55930	0.49	5.33	5.33	0.75918	Cytochrome c oxidase assembly protein CtaG/Cox11, domain (2);	0.000000	0.85682	D	0.000000	T	0.71434	0.3339	.	.	.	0.80722	D	1	D	0.60160	0.987	D	0.72982	0.979	T	0.73895	-0.3838	9	0.52906	T	0.07	-20.8717	14.7737	0.69699	0.0:0.0:0.0:1.0	.	222	Q9Y6N1	COX11_HUMAN	D	222	ENSP00000299335:E222D	ENSP00000299335:E222D	E	-	3	2	COX11	50395258	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.524000	0.35942	2.134000	0.65973	0.528000	0.53228	GAA		0.308	COX11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439182.1	NM_004375		7	63	0	0	0	1	0	7	63					G	53040259	T	G	53040259	3	3	142	1	0	0	0	0	1	0	0	0	3763	1722	60	5	234	5	COX11	17	53040259	Missense_Mutation	SNP	T	TCGA-FC-7961-01A-11D-A29Q-08	5343834	53040259	28154951	61	7126											
USP32	84669	broad.mit.edu	37	chr17	58300782	58300782	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aattacttacctttactggtTcttgagttactaatggctga	10	17	7	7	0	1	2	0	2	1	0	1	2	1	2	1	2	4	3	1	2	6	8			TCGA-FC-7961-01A-11D-A29Q-08	TCGA-FC-7961-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fdfbae-715d-4b84-9c40-5f5823a79bef	610916cc-7c38-42e8-8b8d-591284520b3e	g.chr17:58300782T>G	ENST00000300896.4	-	14	1792	c.1598A>C	c.(1597-1599)gAa>gCa	p.E533A	USP32_ENST00000592339.1_Missense_Mutation_p.E203A	NM_032582.3	NP_115971.2	Q8NFA0	UBP32_HUMAN	ubiquitin specific peptidase 32	533	DUSP. {ECO:0000255|PROSITE- ProRule:PRU00613}.				protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)	Golgi apparatus (GO:0005794)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			NS(3)|breast(5)|endometrium(5)|kidney(4)|large_intestine(12)|liver(1)|lung(24)|pancreas(1)|prostate(3)|skin(3)|urinary_tract(1)	62	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;2.02e-11)|all cancers(12;5.23e-10)|Colorectal(3;0.198)			CTTTACTGGTTCTTGAGTTAC	0.338																																						ENST00000300896.4																			0				NS(3)|breast(5)|endometrium(5)|kidney(4)|large_intestine(12)|liver(1)|lung(24)|pancreas(1)|prostate(3)|skin(3)|urinary_tract(1)	62						c.(1597-1599)gAa>gCa		ubiquitin specific peptidase 32							90	88	89					17																	58300782		2203	4300	6503	SO:0001583	missense	84669				protein deubiquitination|ubiquitin-dependent protein catabolic process	Golgi apparatus|membrane	calcium ion binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr17:58300782T>G	AF533230	CCDS32697.1	17q23.3	2013-01-10	2005-08-08		ENSG00000170832	ENSG00000170832		"Ubiquitin-specific peptidases", "EF-hand domain containing"	19143	protein-coding gene	gene with protein product		607740	"ubiquitin specific protease 32"			12838346	Standard	NM_032582		Approved	NY-REN-60, USP10	uc002iyo.1	Q8NFA0		ENST00000300896.4:c.1598A>C	17.37:g.58300782T>G	ENSP00000300896:p.Glu533Ala					USP32_ENST00000592339.1_Missense_Mutation_p.E203A	p.E533A	NM_032582.3	NP_115971.2	Q8NFA0	UBP32_HUMAN	Epithelial(12;2.02e-11)|all cancers(12;5.23e-10)|Colorectal(3;0.198)		14	1792	-	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		533			DUSP.		Q7Z5T3|Q9BX85|Q9Y591	Missense_Mutation	SNP	ENST00000300896.4	37	c.1598A>C	CCDS32697.1	.	.	.	.	.	.	.	.	.	.	T	14.88	2.667123	0.47677	.	.	ENSG00000170832	ENST00000300896	T	0.44881	0.91	4.53	4.53	0.55603	Peptidase C19, ubiquitin-specific peptidase, DUSP domain (3);	0.105912	0.64402	D	0.000005	T	0.33147	0.0853	L	0.35288	1.05	0.80722	D	1	B	0.26195	0.144	B	0.31191	0.125	T	0.08868	-1.0701	10	0.16420	T	0.52	.	13.9012	0.63804	0.0:0.0:0.0:1.0	.	533	Q8NFA0	UBP32_HUMAN	A	533	ENSP00000300896:E533A	ENSP00000300896:E533A	E	-	2	0	USP32	55655564	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	7.617000	0.83032	1.680000	0.50976	0.372000	0.22366	GAA		0.338	USP32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449235.2	NM_032582		15	30	0	0	0	1	0	15	30					G	58300782	T	G	58300782	3	3	142	1	0	0	0	0	1	0	0	0	17060	1783	62	5	3300	5	USP32	17	58300782	Missense_Mutation	SNP	T	TCGA-FC-7961-01A-11D-A29Q-08	5260523	58300782	22894428	62	7127											
DSC3	1825	broad.mit.edu	37	chr18	28576863	28576863	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	agtccagggtatgatgatgcCcagccccccggcaggattcc	8	7	12	14	1	0	2	0	2	0	0	2	3	2	3	6	3	2	2	6	3	1	2			TCGA-FC-7961-01A-11D-A29Q-08	TCGA-FC-7961-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fdfbae-715d-4b84-9c40-5f5823a79bef	610916cc-7c38-42e8-8b8d-591284520b3e	g.chr18:28576863C>T	ENST00000360428.4	-	15	2467	c.2387G>A	c.(2386-2388)gGg>gAg	p.G796E	DSC3_ENST00000434452.1_Missense_Mutation_p.G796E	NM_001941.3	NP_001932.2	Q14574	DSC3_HUMAN	desmocollin 3	796					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|in utero embryonic development (GO:0001701)|protein stabilization (GO:0050821)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|desmosome (GO:0030057)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|gamma-catenin binding (GO:0045295)			endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(29)|ovary(2)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56			OV - Ovarian serous cystadenocarcinoma(10;0.125)			ATGATGATGCCCAGCCCCCCG	0.517																																						ENST00000434452.1																			0				endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(29)|ovary(2)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						c.(2386-2388)gGg>gAg		desmocollin 3							102	85	90					18																	28576863		2203	4300	6503	SO:0001583	missense	1825				homophilic cell adhesion|protein stabilization	desmosome|integral to membrane|membrane fraction	calcium ion binding|gamma-catenin binding	g.chr18:28576863C>T	X83929	CCDS32810.1	18q12.1	2014-07-30			ENSG00000134762	ENSG00000134762		"Cadherins / Major cadherins"	3037	protein-coding gene	gene with protein product		600271		DSC4		7774948, 8486729	Standard	NM_001941		Approved	CDHF3, DSC, DSC1, DSC2	uc002kwj.4	Q14574	OTTHUMG00000179622	ENST00000360428.4:c.2387G>A	18.37:g.28576863C>T	ENSP00000353608:p.Gly796Glu					DSC3_ENST00000360428.4_Missense_Mutation_p.G796E	p.G796E	NM_024423.2	NP_077741.2	Q14574	DSC3_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.125)		15	2541	-			796					A6NN35|Q14200|Q9HAZ9	Missense_Mutation	SNP	ENST00000360428.4	37	c.2387G>A	CCDS32810.1	.	.	.	.	.	.	.	.	.	.	C	7.671	0.686961	0.14973	.	.	ENSG00000134762	ENST00000360428;ENST00000434452	T;T	0.76316	-1.01;0.39	4.51	3.63	0.41609	Cadherin, cytoplasmic domain (1);	0.000000	0.33346	N	0.005013	D	0.87107	0.6095	M	0.84219	2.685	0.43172	D	0.99497	D;D	0.69078	0.997;0.996	D;D	0.74348	0.942;0.983	D	0.87358	0.2342	10	0.42905	T	0.14	.	12.6117	0.56554	0.1662:0.8338:0.0:0.0	.	796;796	Q14574;Q14574-2	DSC3_HUMAN;.	E	796	ENSP00000353608:G796E;ENSP00000392068:G796E	ENSP00000353608:G796E	G	-	2	0	DSC3	26830861	0.846000	0.29590	0.149000	0.22428	0.486000	0.33341	2.524000	0.45589	1.222000	0.43521	0.563000	0.77884	GGG		0.517	DSC3-001	KNOWN	non_canonical_genome_sequence_error|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000447384.1	NM_001941, NM_024423		12	37	0	0	0	1	0	12	37					T	28576863	C	T	28576863	3	4	142	1	0	0	0	0	1	0	0	0	4767	623	22	3	342	3	DSC3	18	28576863	Missense_Mutation	SNP	C	TCGA-FC-7961-01A-11D-A29Q-08		28576863	49500385	63	7128											
TNFSF14	8740	broad.mit.edu	37	chr19	6670031	6670031	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gcctcgtgaatgggatgtcgGtctgtccatccaccacaaac	9	9	10	13	2	1	1	0	1	1	0	5	2	3	2	4	2	1	0	4	2	2	0			TCGA-FC-7961-01A-11D-A29Q-08	TCGA-FC-7961-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fdfbae-715d-4b84-9c40-5f5823a79bef	610916cc-7c38-42e8-8b8d-591284520b3e	g.chr19:6670031G>A	ENST00000599359.1	-	2	431	c.50C>T	c.(49-51)aCc>aTc	p.T17I	TNFSF14_ENST00000326176.9_Missense_Mutation_p.T17I|TNFSF14_ENST00000245912.3_Missense_Mutation_p.T17I			O43557	TNF14_HUMAN	tumor necrosis factor (ligand) superfamily, member 14	17					apoptotic process (GO:0006915)|cellular response to mechanical stimulus (GO:0071260)|immune response (GO:0006955)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|positive regulation of T cell chemotaxis (GO:0010820)|release of cytoplasmic sequestered NF-kappaB (GO:0008588)|signal transduction (GO:0007165)|T cell activation (GO:0042110)|T cell costimulation (GO:0031295)|T cell homeostasis (GO:0043029)|T cell proliferation (GO:0042098)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|receptor binding (GO:0005102)			breast(1)|kidney(2)|large_intestine(4)|liver(1)|lung(4)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	18						TGGGATGTCGGTCTGTCCATC	0.627																																						ENST00000326176.9																			0				breast(1)|kidney(2)|large_intestine(4)|liver(1)|lung(4)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	18						c.(49-51)aCc>aTc		tumor necrosis factor (ligand) superfamily, member 14							129	101	110					19																	6670031		2203	4300	6503	SO:0001583	missense	0				cellular response to mechanical stimulus|immune response|induction of apoptosis|release of cytoplasmic sequestered NF-kappaB|T cell homeostasis|T cell proliferation	cytoplasm|extracellular space|integral to membrane|plasma membrane	caspase inhibitor activity|cytokine activity|tumor necrosis factor receptor binding	g.chr19:6670031G>A	AF036581	CCDS12171.1, CCDS45939.1	19p13.3	2008-02-05				ENSG00000125735		"Tumor necrosis factor (ligand) superfamily", "CD molecules"	11930	protein-coding gene	gene with protein product		604520				9462508	Standard	NM_172014		Approved	LIGHT, LTg, HVEM-L, CD258	uc002mfk.2	O43557		ENST00000599359.1:c.50C>T	19.37:g.6670031G>A	ENSP00000469049:p.Thr17Ile					TNFSF14_ENST00000599359.1_Missense_Mutation_p.T17I|TNFSF14_ENST00000245912.3_Missense_Mutation_p.T17I	p.T17I	NM_003807.3|NM_172014.2	NP_003798.2|NP_742011.2	O43557	TNF14_HUMAN			2	431	-			17					A8K7M2|C9J5H4|O75476|Q6FHA1|Q8WVF8|Q96LD2	Missense_Mutation	SNP	ENST00000599359.1	37	c.50C>T	CCDS12171.1	.	.	.	.	.	.	.	.	.	.	G	15.18	2.757998	0.49468	.	.	ENSG00000125735	ENST00000245912;ENST00000326176	T;T	0.37915	1.17;1.17	5.04	3.92	0.45320	.	0.503599	0.17222	N	0.182297	T	0.48409	0.1498	M	0.65975	2.015	0.27918	N	0.938367	D;D	0.56746	0.961;0.977	P;P	0.55923	0.617;0.787	T	0.36601	-0.9741	10	0.45353	T	0.12	-11.0272	10.2186	0.43184	0.0:0.0:0.8021:0.1979	.	17;17	O43557;O43557-2	TNF14_HUMAN;.	I	17	ENSP00000245912:T17I;ENSP00000326940:T17I	ENSP00000245912:T17I	T	-	2	0	TNFSF14	6621031	0.967000	0.33354	0.853000	0.33588	0.132000	0.20833	1.854000	0.39368	2.490000	0.84030	0.563000	0.77884	ACC		0.627	TNFSF14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457863.1			6	127	0	0	0	1	0	6	127					A	6670031	G	A	6670031	3	1	142	1	0	0	0	0	1	0	0	0	16304	1261	44	3	688	3	TNFSF14	19	6670031	Missense_Mutation	SNP	G	TCGA-FC-7961-01A-11D-A29Q-08		6670031	52458952	64	7129											
FCGRT	2217	broad.mit.edu	37	chr19	50028719	50028719	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	gttctctggctgcagaatctCcagccaagtcctccgtgctc	6	11	9	15	1	2	1	0	0	2	1	7	1	4	1	4	1	3	4	4	1	2	1			TCGA-FC-7961-01A-11D-A29Q-08	TCGA-FC-7961-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fdfbae-715d-4b84-9c40-5f5823a79bef	610916cc-7c38-42e8-8b8d-591284520b3e	g.chr19:50028719C>G	ENST00000221466.5	+	6	1363	c.877C>G	c.(877-879)Cca>Gca	p.P293A	FCGRT_ENST00000596975.1_Missense_Mutation_p.P201A|FCGRT_ENST00000599988.1_Missense_Mutation_p.P27A|RCN3_ENST00000270645.3_5'Flank|FCGRT_ENST00000426395.3_Missense_Mutation_p.P293A	NM_001136019.2	NP_001129491.1	P55899	FCGRN_HUMAN	Fc fragment of IgG, receptor, transporter, alpha	293	Connecting peptide.				antigen processing and presentation (GO:0019882)|IgG immunoglobulin transcytosis in epithelial cells mediated by FcRn immunoglobulin receptor (GO:0002416)|immune response (GO:0006955)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	IgG binding (GO:0019864)			endometrium(3)|kidney(2)|lung(1)|ovary(1)|prostate(1)|skin(1)	9		all_lung(116;7.84e-06)|Lung NSC(112;2.8e-05)|all_neural(266;0.0966)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00291)|GBM - Glioblastoma multiforme(134;0.0156)		TGCAGAATCTCCAGCCAAGTC	0.617																																						ENST00000221466.5																			0				endometrium(3)|kidney(2)|lung(1)|ovary(1)|prostate(1)|skin(1)	9						c.(877-879)Cca>Gca		Fc fragment of IgG, receptor, transporter, alpha							100	85	90					19																	50028719		2203	4300	6503	SO:0001583	missense	2217				antigen processing and presentation|female pregnancy|immune response	integral to membrane|MHC class I protein complex	IgG binding|receptor activity	g.chr19:50028719C>G	U12255	CCDS12770.1	19q13.3	2013-01-11				ENSG00000104870		"Immunoglobulin superfamily / C1-set domain containing"	3621	protein-coding gene	gene with protein product		601437				7964511, 8646894	Standard	NM_001136019		Approved	FCRN, alpha-chain	uc002pog.2	P55899		ENST00000221466.5:c.877C>G	19.37:g.50028719C>G	ENSP00000221466:p.Pro293Ala					FCGRT_ENST00000426395.3_Missense_Mutation_p.P293A|FCGRT_ENST00000596975.1_Missense_Mutation_p.P201A|FCGRT_ENST00000599988.1_Missense_Mutation_p.P27A	p.P293A	NM_001136019.2	NP_001129491.1	P55899	FCGRN_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00291)|GBM - Glioblastoma multiforme(134;0.0156)	6	1363	+		all_lung(116;7.84e-06)|Lung NSC(112;2.8e-05)|all_neural(266;0.0966)|Ovarian(192;0.231)	293			Connecting peptide.		Q5HYM5|Q9HBV7|Q9NZ19	Missense_Mutation	SNP	ENST00000221466.5	37	c.877C>G	CCDS12770.1	.	.	.	.	.	.	.	.	.	.	C	11.75	1.732807	0.30684	.	.	ENSG00000104870	ENST00000221466;ENST00000426395	T;T	0.00966	5.49;5.49	4.49	-0.113	0.13568	Immunoglobulin-like fold (1);	0.384917	0.19174	N	0.120880	T	0.01156	0.0038	M	0.70595	2.14	0.23336	N	0.997887	P	0.39282	0.666	B	0.31869	0.137	T	0.46638	-0.9177	10	0.62326	D	0.03	.	6.6034	0.22712	0.0:0.588:0.0:0.412	.	293	P55899	FCGRN_HUMAN	A	293	ENSP00000221466:P293A;ENSP00000410798:P293A	ENSP00000221466:P293A	P	+	1	0	FCGRT	54720531	0.000000	0.05858	0.091000	0.20842	0.021000	0.10359	-0.446000	0.06837	0.233000	0.21120	0.563000	0.77884	CCA		0.617	FCGRT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465267.1			12	127	0	0	0	1	0	12	127					G	50028719	C	G	50028719	3	3	142	1	0	0	0	0	1	0	0	0	5786	855	30	5	895	5	FCGRT	19	50028719	Missense_Mutation	SNP	C	TCGA-FC-7961-01A-11D-A29Q-08	43358688	50028719	9100264	65	7130											
IRF3	3661	broad.mit.edu	37	chr19	50165379	50165379	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgccagagagccagtccccCacccaggcagctcagcacat	10	3	9	19	1	1	1	1	0	0	1	2	2	2	1	6	1	3	3	6	1	0	0	rs142339594		TCGA-FC-7961-01A-11D-A29Q-08	TCGA-FC-7961-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fdfbae-715d-4b84-9c40-5f5823a79bef	610916cc-7c38-42e8-8b8d-591284520b3e	g.chr19:50165379C>A	ENST00000597198.1	-	6	1189	c.808G>T	c.(808-810)Ggg>Tgg	p.G270W	IRF3_ENST00000593922.1_Missense_Mutation_p.G124W|IRF3_ENST00000377135.4_Intron|IRF3_ENST00000309877.7_Missense_Mutation_p.G270W|IRF3_ENST00000596765.1_Intron|IRF3_ENST00000599680.1_5'Flank|IRF3_ENST00000600911.1_Missense_Mutation_p.G270W|IRF3_ENST00000600022.1_Intron|IRF3_ENST00000599144.1_Missense_Mutation_p.G124W|IRF3_ENST00000377139.3_Missense_Mutation_p.G270W|IRF3_ENST00000601291.1_Missense_Mutation_p.G270W|IRF3_ENST00000599223.1_Intron|IRF3_ENST00000598808.1_Missense_Mutation_p.G124W|IRF3_ENST00000596822.1_Intron			Q14653	IRF3_HUMAN	interferon regulatory factor 3	270	Involved in HERC5 binding.				apoptotic process (GO:0006915)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to dsRNA (GO:0071359)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|interferon-gamma-mediated signaling pathway (GO:0060333)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|macrophage apoptotic process (GO:0071888)|MDA-5 signaling pathway (GO:0039530)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of defense response to virus by host (GO:0050689)|negative regulation of interferon-beta biosynthetic process (GO:0045358)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of type I interferon production (GO:0032480)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of type I interferon production (GO:0032481)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340)|programmed necrotic cell death (GO:0097300)|response to exogenous dsRNA (GO:0043330)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|transcription from RNA polymerase II promoter (GO:0006366)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|type I interferon biosynthetic process (GO:0045351)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription cofactor activity (GO:0003712)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|large_intestine(2)|lung(4)|ovary(2)|stomach(1)	10		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.02)		GCCAGTCCCCCACCCAGGCAG	0.667																																						ENST00000597198.1																			0				breast(1)|large_intestine(2)|lung(4)|ovary(2)|stomach(1)	10						c.(808-810)Ggg>Tgg		interferon regulatory factor 3			TRP/GLY,TRP/GLY,,TRP/GLY,TRP/GLY,,,TRP/GLY	0,4406		0,0,2203	38	38	38		808,703,,370,370,,,808	0.1	0	19	dbSNP_134	38	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,intron,missense,missense,intron,intron,missense	IRF3	NM_001197122.1,NM_001197123.1,NM_001197124.1,NM_001197125.1,NM_001197126.1,NM_001197127.1,NM_001197128.1,NM_001571.5	184,184,,184,184,,,184	0,1,6502	AA,AC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging,,probably-damaging,probably-damaging,,,probably-damaging	270/453,235/393,,124/282,124/282,,,270/428	50165379	1,13005	2203	4300	6503	SO:0001583	missense	3661				interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|MyD88-independent toll-like receptor signaling pathway|negative regulation of type I interferon production|response to virus|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	cytosol|endosome membrane|nucleoplasm|plasma membrane	DNA binding|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription cofactor activity	g.chr19:50165379C>A		CCDS12775.1, CCDS56099.1, CCDS59407.1, CCDS59408.1, CCDS59409.1	19q13.3-q13.4	2008-07-16				ENSG00000126456			6118	protein-coding gene	gene with protein product		603734				8524823	Standard	NM_001571		Approved		uc002pow.3	Q14653		ENST00000597198.1:c.808G>T	19.37:g.50165379C>A	ENSP00000469113:p.Gly270Trp					IRF3_ENST00000598808.1_Missense_Mutation_p.G124W|IRF3_ENST00000596822.1_Intron|IRF3_ENST00000377139.3_Missense_Mutation_p.G270W|IRF3_ENST00000599144.1_Missense_Mutation_p.G124W|IRF3_ENST00000600022.1_Intron|IRF3_ENST00000600911.1_Missense_Mutation_p.G270W|IRF3_ENST00000601291.1_Missense_Mutation_p.G270W|IRF3_ENST00000593922.1_Missense_Mutation_p.G124W|IRF3_ENST00000596765.1_Intron|IRF3_ENST00000309877.7_Missense_Mutation_p.G270W|IRF3_ENST00000599223.1_Intron|IRF3_ENST00000377135.4_Intron	p.G270W			Q14653	IRF3_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.02)	6	1189	-		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)	270			Involved in HERC5 binding.		A8K7L2|B2RAZ3|Q5FBY1|Q5FBY2|Q5FBY4|Q7Z5G6	Missense_Mutation	SNP	ENST00000597198.1	37	c.808G>T	CCDS12775.1	.	.	.	.	.	.	.	.	.	.	c	15.49	2.847985	0.51164	0.0	1.16E-4	ENSG00000126456	ENST00000377139;ENST00000309877	D;D	0.95035	-3.59;-3.59	4.72	0.0506	0.14294	SMAD domain-like (1);SMAD/FHA domain (1);Interferon regulatory factor-3 (1);	0.822791	0.10800	N	0.632829	D	0.95655	0.8587	M	0.69823	2.125	0.09310	N	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.85130	0.989;0.997;0.997;0.987	D	0.87047	0.2144	10	0.66056	D	0.02	-14.2111	4.0105	0.09621	0.0:0.4228:0.1754:0.4018	.	270;270;270;270	B2RAZ3;Q96GL3;Q7Z5G6;Q14653	.;.;.;IRF3_HUMAN	W	270	ENSP00000366344:G270W;ENSP00000310127:G270W	ENSP00000310127:G270W	G	-	1	0	IRF3	54857191	0.000000	0.05858	0.001000	0.08648	0.255000	0.26057	-0.362000	0.07602	-0.037000	0.13646	0.550000	0.68814	GGG		0.667	IRF3-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465962.1	NM_001571		4	54	1	0	1	1	1	4	54					A	50165379	C	A	50165379	3	1	142	1	0	0	0	0	1	0	0	0	7831	594	21	5	487	5	IRF3	19	50165379	Missense_Mutation	SNP	C	TCGA-FC-7961-01A-11D-A29Q-08	136660	50165379	8963604	66	7131											
ZNF813	126017	broad.mit.edu	37	chr19	53993793	53993793	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acttagagtttcagtggcaaGaagatgaaagaaatagccat	17	9	10	5	0	1	5	1	1	0	4	1	5	1	5	1	1	1	2	1	1	6	3			TCGA-FC-7961-01A-11D-A29Q-08	TCGA-FC-7961-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fdfbae-715d-4b84-9c40-5f5823a79bef	610916cc-7c38-42e8-8b8d-591284520b3e	g.chr19:53993793G>C	ENST00000396403.4	+	4	435	c.307G>C	c.(307-309)Gaa>Caa	p.E103Q	ZNF813_ENST00000396421.4_Intron	NM_001004301.3	NP_001004301.2	Q6ZN06	ZN813_HUMAN	zinc finger protein 813	103					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.E103K(1)		large_intestine(1)	1				GBM - Glioblastoma multiforme(134;0.00619)		TCAGTGGCAAGAAGATGAAAG	0.403																																						ENST00000396403.4																			1	Substitution - Missense(1)	p.E103K(1)	soft_tissue(1)	large_intestine(1)	1						c.(307-309)Gaa>Caa		zinc finger protein 813							109	115	113					19																	53993793		2201	4300	6501	SO:0001583	missense	126017				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53993793G>C	AK091460	CCDS46172.1	19q13.41	2013-01-08			ENSG00000198346	ENSG00000198346		"Zinc fingers, C2H2-type", "-"	33257	protein-coding gene	gene with protein product							Standard	NM_001004301		Approved	FLJ16542	uc002qbu.2	Q6ZN06	OTTHUMG00000158309	ENST00000396403.4:c.307G>C	19.37:g.53993793G>C	ENSP00000379684:p.Glu103Gln					ZNF813_ENST00000396421.4_Intron	p.E103Q	NM_001004301.3	NP_001004301.2	Q6ZN06	ZN813_HUMAN		GBM - Glioblastoma multiforme(134;0.00619)	4	435	+			103						Missense_Mutation	SNP	ENST00000396403.4	37	c.307G>C	CCDS46172.1	.	.	.	.	.	.	.	.	.	.	G	11.04	1.521363	0.27211	.	.	ENSG00000198346	ENST00000468450;ENST00000396403;ENST00000490956	T;T;T	0.06068	4.01;3.35;5.03	0.467	-0.934	0.10428	.	.	.	.	.	T	0.11922	0.0290	L	0.59436	1.845	0.09310	N	1	D	0.58620	0.983	P	0.58454	0.839	T	0.22277	-1.0221	9	0.21014	T	0.42	.	5.6469	0.17594	0.0:0.3413:0.6586:0.0	.	103	Q6ZN06	ZN813_HUMAN	Q	50;103;134	ENSP00000419821:E50Q;ENSP00000379684:E103Q;ENSP00000418289:E134Q	ENSP00000379684:E103Q	E	+	1	0	ZNF813	58685605	0.006000	0.16342	0.032000	0.17829	0.299000	0.27559	0.965000	0.29319	-0.622000	0.05626	0.205000	0.17691	GAA		0.403	ZNF813-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350638.1	NM_001004301		37	103	0	0	0	1	0	37	103					C	53993793	G	C	53993793	3	2	142	1	0	0	0	0	1	0	0	0	18172	943	33	5	317	5	ZNF813	19	53993793	Missense_Mutation	SNP	G	TCGA-FC-7961-01A-11D-A29Q-08	3828414	53993793	5135190	67	7132											
NLRP13	126204	broad.mit.edu	37	chr19	56424212	56424212	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgagccatcatccaagctcTcagagcgtgactcagatatg	11	8	10	12	2	3	3	3	1	1	2	5	4	4	3	2	0	3	1	2	0	2	1			TCGA-FC-7961-01A-11D-A29Q-08	TCGA-FC-7961-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fdfbae-715d-4b84-9c40-5f5823a79bef	610916cc-7c38-42e8-8b8d-591284520b3e	g.chr19:56424212T>G	ENST00000342929.3	-	5	970	c.971A>C	c.(970-972)gAg>gCg	p.E324A	NLRP13_ENST00000588751.1_Missense_Mutation_p.E324A	NM_176810.2	NP_789780.2	Q86W25	NAL13_HUMAN	NLR family, pyrin domain containing 13	324	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.						ATP binding (GO:0005524)			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		ATCCAAGCTCTCAGAGCGTGA	0.458																																						ENST00000588751.1																			0				NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109						c.(970-972)gAg>gCg		NLR family, pyrin domain containing 13							85	84	84					19																	56424212		2203	4300	6503	SO:0001583	missense	126204						ATP binding	g.chr19:56424212T>G	AY154468	CCDS33119.1	19q13.43	2008-02-05	2006-12-08	2006-12-08	ENSG00000173572	ENSG00000173572		"Nucleotide-binding domain and leucine rich repeat containing"	22937	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 13"	609660	"NACHT, leucine rich repeat and PYD containing 13"	NALP13		12563287	Standard	NM_176810		Approved	NOD14, PAN13, CLR19.7	uc010ygg.2	Q86W25	OTTHUMG00000167839	ENST00000342929.3:c.971A>C	19.37:g.56424212T>G	ENSP00000343891:p.Glu324Ala					NLRP13_ENST00000342929.3_Missense_Mutation_p.E324A	p.E324A			Q86W25	NAL13_HUMAN		GBM - Glioblastoma multiforme(193;0.0642)	5	995	-		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)	324			NACHT.		Q7RTR5	Missense_Mutation	SNP	ENST00000342929.3	37	c.971A>C	CCDS33119.1	.	.	.	.	.	.	.	.	.	.	T	4.252	0.045798	0.08196	.	.	ENSG00000173572	ENST00000342929	T	0.74842	-0.88	1.55	1.55	0.23275	NACHT nucleoside triphosphatase (1);	.	.	.	.	T	0.49474	0.1559	N	0.08118	0	0.09310	N	1	B	0.17038	0.02	B	0.19946	0.027	T	0.33624	-0.9861	9	0.20046	T	0.44	.	5.4469	0.16539	0.0:0.0:0.0:1.0	.	324	Q86W25	NAL13_HUMAN	A	324	ENSP00000343891:E324A	ENSP00000343891:E324A	E	-	2	0	NLRP13	61116024	0.000000	0.05858	0.001000	0.08648	0.003000	0.03518	0.003000	0.13083	0.622000	0.30249	0.482000	0.46254	GAG		0.458	NLRP13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396560.1	NM_176810		16	63	0	0	0	1	0	16	63					G	56424212	T	G	56424212	3	3	142	1	0	0	0	0	1	0	0	0	10475	1551	54	5	2186	5	NLRP13	19	56424212	Missense_Mutation	SNP	T	TCGA-FC-7961-01A-11D-A29Q-08	2430419	56424212	2704771	68	7133											
ZFP28	140612	broad.mit.edu	37	chr19	57065054	57065054	+	Splice_Site	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ttttcttggtatctttcaggCcagcgatctgtacatgagac	8	15	9	9	1	4	1	1	1	3	1	4	3	4	1	1	2	2	2	1	2	2	6			TCGA-FC-7961-01A-11D-A29Q-08	TCGA-FC-7961-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fdfbae-715d-4b84-9c40-5f5823a79bef	610916cc-7c38-42e8-8b8d-591284520b3e	g.chr19:57065054C>G	ENST00000301318.3	+	8	971	c.900C>G	c.(898-900)ggC>ggG	p.G300G	AC007228.11_ENST00000596587.1_RNA	NM_020828.1	NP_065879.1	Q8NHY6	ZFP28_HUMAN	ZFP28 zinc finger protein	300					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(2)|kidney(1)|large_intestine(14)|lung(6)|ovary(1)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	35		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0302)		ATCTTTCAGGCCAGCGATCTG	0.378																																					Ovarian(124;554 1662 19430 21141 52494)	ENST00000301318.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(14)|lung(6)|ovary(1)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	35						c.e8-1		ZFP28 zinc finger protein							58	54	55					19																	57065054		2203	4300	6503	SO:0001630	splice_region_variant	140612				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57065054C>G		CCDS12946.1	19q13.43	2013-01-08	2012-11-27			ENSG00000196867		"Zinc fingers, C2H2-type", "-"	17801	protein-coding gene	gene with protein product			"zinc finger protein 28 homolog (mouse)"				Standard	NM_020828		Approved	KIAA1431, mkr5	uc002qnj.3	Q8NHY6		ENST00000301318.3:c.899-1C>G	19.37:g.57065054C>G						AC007228.11_ENST00000596587.1_RNA	p.G300_splice	NM_020828.1	NP_065879.1	Q8NHY6	ZFP28_HUMAN		GBM - Glioblastoma multiforme(193;0.0302)	8	971	+		Colorectal(82;0.000256)|Ovarian(87;0.243)	300					A0JNV6|K7ES88|Q8NHU8|Q9BY30|Q9P2B6	Splice_Site	SNP	ENST00000301318.3	37	c.898_splice	CCDS12946.1																																																																																				0.378	ZFP28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458409.1	NM_020828	Silent	8	51	0	0	0	1	0	8	51					G	57065054	C	G	57065054	5	3	142	1	0	0	0	0	0	0	1	0	17639	753	26	5	930	5	ZFP28	19	57065054	Splice_Site	SNP	C	TCGA-FC-7961-01A-11D-A29Q-08	640842	57065054	2063929	69	7134											
BIK	638	broad.mit.edu	37	chr22	43523734	43523734	+	Frame_Shift_Del	DEL	G	G	-																															ccctgcggctggcctgcatcGgggacgagatggacgtgagc																										TCGA-FC-7961-01A-11D-A29Q-08	TCGA-FC-7961-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fdfbae-715d-4b84-9c40-5f5823a79bef	610916cc-7c38-42e8-8b8d-591284520b3e	g.chr22:43523734delG	ENST00000216115.2	+	3	256	c.193delG	c.(193-195)gggfs	p.G65fs		NM_001197.4	NP_001188.1	Q13323	BIK_HUMAN	BCL2-interacting killer (apoptosis-inducing)	65					apoptotic mitochondrial changes (GO:0008637)|apoptotic process (GO:0006915)|male gonad development (GO:0008584)|positive regulation of protein homooligomerization (GO:0032464)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|mitochondrial envelope (GO:0005740)				breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|urinary_tract(1)	5		Ovarian(80;0.0694)				GGCCTGCATCGGGGACGAGAT	0.677																																						ENST00000216115.2																			0				breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|urinary_tract(1)	5						c.(193-195)ggfs		BCL2-interacting killer (apoptosis-inducing)							24	20	21					22																	43523734		2147	4197	6344	SO:0001589	frameshift_variant	638				apoptosis|induction of apoptosis|positive regulation of protein homooligomerization|positive regulation of release of cytochrome c from mitochondria	endomembrane system|integral to membrane		g.chr22:43523734delG	U34584	CCDS14044.1	22q13.31	2014-03-07			ENSG00000100290	ENSG00000100290			1051	protein-coding gene	gene with protein product		603392				7478623, 10591208	Standard	NM_001197		Approved	NBK	uc003bdk.3	Q13323	OTTHUMG00000150703	ENST00000216115.2:c.193delG	22.37:g.43523734delG	ENSP00000216115:p.Gly65fs						p.G65fs	NM_001197.4	NP_001188.1	Q13323	BIK_HUMAN			3	256	+		Ovarian(80;0.0694)	65					Q16582|Q6FH93	Frame_Shift_Del	DEL	ENST00000216115.2	37	c.193delG	CCDS14044.1																																																																																				0.677	BIK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319676.1	NM_001197		2	4						2	4	---	---	---	---	-	43523734	G	-	43523734	7	5	142	1	0	1	0	1	0	0	0	0	1431	1116	39	0	199	0	BIK	22	43523734	Frame_Shift_Del	DEL	G	TCGA-FC-7961-01A-11D-A29Q-08		43523734	7780832	70	7135											
EIF2S3	1968	broad.mit.edu	37	chrX	24075812	24075812	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tatagatcttgtgggagcagTacacctgacgagtttcctac	10	12	10	9	1	1	2	0	1	1	1	2	4	2	3	2	1	3	3	2	1	4	6			TCGA-FC-7961-01A-11D-A29Q-08	TCGA-FC-7961-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fdfbae-715d-4b84-9c40-5f5823a79bef	610916cc-7c38-42e8-8b8d-591284520b3e	g.chrX:24075812T>C	ENST00000253039.4	+	4	577	c.324T>C	c.(322-324)agT>agC	p.S108S		NM_001415.3	NP_001406.1	P41091	IF2G_HUMAN	eukaryotic translation initiation factor 2, subunit 3 gamma, 52kDa	108	tr-type G. {ECO:0000255|PROSITE- ProRule:PRU01059}.				cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|GTP catabolic process (GO:0006184)|translation (GO:0006412)|translational initiation (GO:0006413)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			breast(1)|cervix(1)|endometrium(4)|large_intestine(1)|lung(4)|ovary(1)	12						GTGGGAGCAGTACACCTGACG	0.373																																						ENST00000253039.4																			0				breast(1)|cervix(1)|endometrium(4)|large_intestine(1)|lung(4)|ovary(1)	12						c.(322-324)agT>agC		eukaryotic translation initiation factor 2, subunit 3 gamma, 52kDa							67	65	66					X																	24075812		2203	4300	6503	SO:0001819	synonymous_variant	1968					cytosol	GTP binding|GTPase activity|protein binding|translation initiation factor activity	g.chrX:24075812T>C	L19161	CCDS14210.1	Xp22.2-p22.1	2008-07-31	2002-08-29		ENSG00000130741	ENSG00000130741			3267	protein-coding gene	gene with protein product	"eukaryotic translation initiation factor 2G"	300161	"eukaryotic translation initiation factor 2, subunit 3 (gamma, 52kD)"	EIF2G		8106381, 9736774	Standard	NM_001415		Approved	EIF2gamma, EIF2	uc004dbc.3	P41091	OTTHUMG00000021262	ENST00000253039.4:c.324T>C	X.37:g.24075812T>C							p.S108S	NM_001415.3	NP_001406.1	P41091	IF2G_HUMAN			4	577	+			108					B5BTZ4	Silent	SNP	ENST00000253039.4	37	c.324T>C	CCDS14210.1	.	.	.	.	.	.	.	.	.	.	T	10.46	1.357210	0.24598	.	.	ENSG00000130741	ENST00000423068	.	.	.	5.03	-3.98	0.04082	.	.	.	.	.	T	0.64940	0.2644	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.65005	-0.6273	4	.	.	.	.	15.107	0.72329	0.0:0.6181:0.0:0.3819	.	.	.	.	H	108	.	.	Y	+	1	0	EIF2S3	23985733	0.989000	0.36119	0.565000	0.28409	0.932000	0.56968	0.266000	0.18534	-0.736000	0.04831	0.417000	0.27973	TAC		0.373	EIF2S3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056079.1	NM_001415		4	33	0	0	0	1	0	4	33					C	24075812	T	C	24075812	2	2	142	1	0	0	0	0	0	0	0	1	5011	1635	57	4		4	EIF2S3	23	24075812	Silent	SNP	T	TCGA-FC-7961-01A-11D-A29Q-08		24075812	131194748	71	7136											
NADK	65220	broad.mit.edu	37	chr1	1688005	1688005	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ttcatcgctggcgatggcagGgtcttctagcactttctttt	5	16	10	10	2	4	0	1	0	3	0	5	1	4	0	0	3	1	3	0	3	1	6	rs147892956		TCGA-FC-A4JI-01A-11D-A257-08	TCGA-FC-A4JI-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf6e6dd2-52d7-488b-8552-3e174d19744f	d4794705-4c1b-44dc-9a70-ee6671ee7c62	g.chr1:1688005G>A	ENST00000341426.5	-	5	657	c.436C>T	c.(436-438)Cct>Tct	p.P146S	NADK_ENST00000341991.3_Missense_Mutation_p.P146S|NADK_ENST00000344463.4_Missense_Mutation_p.P291S|NADK_ENST00000342348.5_Missense_Mutation_p.P114S|NADK_ENST00000492768.1_5'Flank|NADK_ENST00000378625.1_Missense_Mutation_p.P291S	NM_023018.4	NP_075394.3	O95544	NADK_HUMAN	NAD kinase	146					ATP metabolic process (GO:0046034)|NAD metabolic process (GO:0019674)|NADP biosynthetic process (GO:0006741)|phosphorylation (GO:0016310)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)			NS(1)|autonomic_ganglia(1)|endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|prostate(2)|stomach(1)|urinary_tract(1)	17	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;5.61e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;8.75e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.33e-23)|GBM - Glioblastoma multiforme(42;1.35e-07)|Colorectal(212;0.000203)|COAD - Colon adenocarcinoma(227;0.000225)|Kidney(185;0.00265)|STAD - Stomach adenocarcinoma(132;0.00655)|BRCA - Breast invasive adenocarcinoma(365;0.00855)|KIRC - Kidney renal clear cell carcinoma(229;0.0382)|Lung(427;0.207)		GCGATGGCAGGGTCTTCTAGC	0.527																																						ENST00000344463.4																			0				NS(1)|autonomic_ganglia(1)|endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|prostate(2)|stomach(1)|urinary_tract(1)	17						c.(871-873)Cct>Tct		NAD kinase		G	SER/PRO,SER/PRO,SER/PRO,SER/PRO	0,4406		0,0,2203	145	122	130		436,871,340,436	5.8	1	1	dbSNP_134	130	3,8597	3.0+/-9.4	0,3,4297	yes	missense,missense,missense,missense	NADK	NM_001198993.1,NM_001198994.1,NM_001198995.1,NM_023018.4	74,74,74,74	0,3,6500	AA,AG,GG		0.0349,0.0,0.0231	benign,benign,benign,benign	146/447,291/592,114/415,146/447	1688005	3,13003	2203	4300	6503	SO:0001583	missense	65220				ATP metabolic process|NAD metabolic process|water-soluble vitamin metabolic process	cytosol	ATP binding|metal ion binding|NAD+ kinase activity|protein binding	g.chr1:1688005G>A	BC001709	CCDS30565.1, CCDS55561.1, CCDS55562.1	1p36.33	2013-04-29			ENSG00000008130	ENSG00000008130	2.7.1.23		29831	protein-coding gene	gene with protein product		611616				11594753	Standard	NM_023018		Approved	FLJ13052	uc001aie.3	O95544	OTTHUMG00000000942	ENST00000341426.5:c.436C>T	1.37:g.1688005G>A	ENSP00000341679:p.Pro146Ser					NADK_ENST00000342348.5_Missense_Mutation_p.P114S|NADK_ENST00000378625.1_Missense_Mutation_p.P291S|NADK_ENST00000341426.5_Missense_Mutation_p.P146S|NADK_ENST00000341991.3_Missense_Mutation_p.P146S	p.P291S			O95544	NADK_HUMAN		Epithelial(90;8.75e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.33e-23)|GBM - Glioblastoma multiforme(42;1.35e-07)|Colorectal(212;0.000203)|COAD - Colon adenocarcinoma(227;0.000225)|Kidney(185;0.00265)|STAD - Stomach adenocarcinoma(132;0.00655)|BRCA - Breast invasive adenocarcinoma(365;0.00855)|KIRC - Kidney renal clear cell carcinoma(229;0.0382)|Lung(427;0.207)	7	1092	-	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;5.61e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)	146					A6NNN3|A8K296|B7Z434|F5GXR5|Q5QPS4|Q9H2P2|Q9H931	Missense_Mutation	SNP	ENST00000341426.5	37	c.871C>T	CCDS30565.1	.	.	.	.	.	.	.	.	.	.	G	17.74	3.463212	0.63513	0.0	3.49E-4	ENSG00000008130	ENST00000341426;ENST00000341991;ENST00000378625;ENST00000344463;ENST00000342348;ENST00000400922	T;T;T;T;T;T	0.40476	1.06;1.06;1.03;1.03;1.06;1.06	5.77	5.77	0.91146	ATP-NAD kinase, PpnK-type, alpha/beta (1);ATP-NAD kinase, PpnK-type (1);	0.052436	0.85682	D	0.000000	T	0.51907	0.1702	M	0.68317	2.08	0.80722	D	1	B;B;P;P	0.42123	0.371;0.417;0.771;0.624	B;P;P;B	0.48334	0.142;0.475;0.574;0.3	T	0.38023	-0.9680	10	0.15499	T	0.54	-14.0529	18.5425	0.91033	0.0:0.0:1.0:0.0	.	114;291;291;146	F5GXR5;Q9H2P2;Q5QPS4;O95544	.;.;.;NADK_HUMAN	S	146;146;291;291;114;114	ENSP00000341679:P146S;ENSP00000344340:P146S;ENSP00000367890:P291S;ENSP00000340925:P291S;ENSP00000339727:P114S;ENSP00000383713:P114S	ENSP00000341679:P146S	P	-	1	0	NADK	1677865	1.000000	0.71417	1.000000	0.80357	0.933000	0.57130	6.235000	0.72332	2.733000	0.93635	0.561000	0.74099	CCT		0.527	NADK-003	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000002769.1	NM_023018		3	31	0	0	0	1	0	3	31					A	1688005	G	A	1688005	3	1	143	1	0	0	0	0	1	0	0	0	10137	1232	43	3	936	3	NADK	1	1688005	Missense_Mutation	SNP	G	TCGA-FC-A4JI-01A-11D-A257-08		1688005	247562616	1	7137											
PRKCZ	5590	broad.mit.edu	37	chr1	2082320	2082320	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctaatcagagtcatcgggcGcgggagctacgccaaggttc	9	7	13	12	4	2	1	2	0	0	1	4	2	2	2	2	3	2	2	2	3	3	3			TCGA-FC-A4JI-01A-11D-A257-08	TCGA-FC-A4JI-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf6e6dd2-52d7-488b-8552-3e174d19744f	d4794705-4c1b-44dc-9a70-ee6671ee7c62	g.chr1:2082320G>A	ENST00000400921.2	+	6	913	c.230G>A	c.(229-231)cGc>cAc	p.R77H	PRKCZ_ENST00000479263.1_3'UTR|PRKCZ_ENST00000400920.1_Missense_Mutation_p.R77H	NM_001033581.1	NP_001028753.1	Q05513	KPCZ_HUMAN	protein kinase C, zeta	260	OPR.				actin cytoskeleton reorganization (GO:0031532)|activation of phospholipase D activity (GO:0031584)|activation of protein kinase B activity (GO:0032148)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|establishment of cell polarity (GO:0030010)|inflammatory response (GO:0006954)|insulin receptor signaling pathway (GO:0008286)|long-term memory (GO:0007616)|long-term synaptic potentiation (GO:0060291)|membrane hyperpolarization (GO:0060081)|microtubule cytoskeleton organization (GO:0000226)|negative regulation of apoptotic process (GO:0043066)|negative regulation of hydrolase activity (GO:0051346)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of peptidyl-tyrosine phosphorylation (GO:0050732)|negative regulation of protein complex assembly (GO:0031333)|neuron projection extension (GO:1990138)|peptidyl-serine phosphorylation (GO:0018105)|platelet activation (GO:0030168)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of glucose import (GO:0046326)|positive regulation of insulin receptor signaling pathway (GO:0046628)|positive regulation of interleukin-10 secretion (GO:2001181)|positive regulation of interleukin-13 secretion (GO:2000667)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of interleukin-5 secretion (GO:2000664)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of T-helper 2 cell cytokine production (GO:2000553)|positive regulation of T-helper 2 cell differentiation (GO:0045630)|protein heterooligomerization (GO:0051291)|protein kinase C signaling (GO:0070528)|protein localization to plasma membrane (GO:0072659)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)|transforming growth factor beta receptor signaling pathway (GO:0007179)|vesicle transport along microtubule (GO:0047496)	apical cortex (GO:0045179)|apical plasma membrane (GO:0016324)|axon hillock (GO:0043203)|cell junction (GO:0030054)|cell leading edge (GO:0031252)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|membrane raft (GO:0045121)|microtubule organizing center (GO:0005815)|myelin sheath abaxonal region (GO:0035748)|nuclear envelope (GO:0005635)|nuclear matrix (GO:0016363)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|tight junction (GO:0005923)	ATP binding (GO:0005524)|insulin receptor substrate binding (GO:0043560)|potassium channel regulator activity (GO:0015459)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)|zinc ion binding (GO:0008270)	p.R260H(1)		breast(2)|central_nervous_system(4)|endometrium(1)|large_intestine(5)|lung(5)|stomach(1)	18	all_cancers(77;0.000177)|all_epithelial(69;6.41e-05)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;1.14e-19)|all_lung(118;1.22e-08)|Lung NSC(185;1.24e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;2.96e-37)|OV - Ovarian serous cystadenocarcinoma(86;3.3e-23)|GBM - Glioblastoma multiforme(42;2.85e-08)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.00294)|BRCA - Breast invasive adenocarcinoma(365;0.00493)|STAD - Stomach adenocarcinoma(132;0.00669)|KIRC - Kidney renal clear cell carcinoma(229;0.0411)|Lung(427;0.213)	Tamoxifen(DB00675)	GTCATCGGGCGCGGGAGCTAC	0.512																																						ENST00000400921.2																			1	Substitution - Missense(1)	p.R260H(1)	central_nervous_system(1)	breast(2)|central_nervous_system(4)|endometrium(1)|large_intestine(5)|lung(5)|stomach(1)	18						c.(229-231)cGc>cAc		protein kinase C, zeta							79	77	78					1																	2082320		2203	4300	6503	SO:0001583	missense	5590				anti-apoptosis|intracellular signal transduction|negative regulation of insulin receptor signaling pathway|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of protein complex assembly|peptidyl-serine phosphorylation|platelet activation	endosome	ATP binding|protein kinase C activity|zinc ion binding	g.chr1:2082320G>A	BC014270	CCDS37.1, CCDS41229.1, CCDS55563.1	1p36.33-p36.2	2009-07-10			ENSG00000067606	ENSG00000067606	2.7.11.1		9412	protein-coding gene	gene with protein product		176982					Standard	NM_001242874		Approved	PKC2	uc001aiq.3	Q05513	OTTHUMG00000001238	ENST00000400921.2:c.230G>A	1.37:g.2082320G>A	ENSP00000383712:p.Arg77His					PRKCZ_ENST00000400920.1_Missense_Mutation_p.R77H|PRKCZ_ENST00000479263.1_3'UTR	p.R77H	NM_001033581.1	NP_001028753.1	Q05513	KPCZ_HUMAN		Epithelial(90;2.96e-37)|OV - Ovarian serous cystadenocarcinoma(86;3.3e-23)|GBM - Glioblastoma multiforme(42;2.85e-08)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.00294)|BRCA - Breast invasive adenocarcinoma(365;0.00493)|STAD - Stomach adenocarcinoma(132;0.00669)|KIRC - Kidney renal clear cell carcinoma(229;0.0411)|Lung(427;0.213)	6	913	+	all_cancers(77;0.000177)|all_epithelial(69;6.41e-05)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;1.14e-19)|all_lung(118;1.22e-08)|Lung NSC(185;1.24e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)	260			OPR.		A8K4N0|A8MU64|B7Z2J7|E9PCW2|Q15207|Q5SYT5|Q969S4	Missense_Mutation	SNP	ENST00000400921.2	37	c.230G>A	CCDS41229.1	.	.	.	.	.	.	.	.	.	.	G	26.5	4.747721	0.89663	.	.	ENSG00000067606	ENST00000378567;ENST00000400921;ENST00000461106;ENST00000470596;ENST00000400920;ENST00000486681;ENST00000470986;ENST00000470511;ENST00000497183	T;T;T;T;T;T;T;T	0.66995	-0.24;-0.24;-0.24;1.88;-0.24;-0.24;-0.24;-0.24	4.8	4.8	0.61643	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.80639	0.4661	M	0.69358	2.11	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.998;0.998;0.999	T	0.82908	-0.0224	10	0.87932	D	0	.	17.0179	0.86424	0.0:0.0:1.0:0.0	.	156;84;260	E9PCW2;B3KUN5;Q05513	.;.;KPCZ_HUMAN	H	260;77;156;77;77;73;77;77;73	ENSP00000367830:R260H;ENSP00000383712:R77H;ENSP00000426412:R156H;ENSP00000424228:R77H;ENSP00000383711:R77H;ENSP00000424763:R73H;ENSP00000421219:R77H;ENSP00000422764:R73H	ENSP00000367830:R260H	R	+	2	0	PRKCZ	2072180	1.000000	0.71417	0.987000	0.45799	0.679000	0.39708	8.977000	0.93446	2.493000	0.84123	0.591000	0.81541	CGC		0.512	PRKCZ-009	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000098533.3	NM_002744		3	33	0	0	0	1	0	3	33					A	2082320	G	A	2082320	3	1	143	1	0	0	0	0	1	0	0	0	12517	1087	38	1	813	1	PRKCZ	1	2082320	Missense_Mutation	SNP	G	TCGA-FC-A4JI-01A-11D-A257-08	394315	2082320	247168301	2	7138											
PADI3	51702	broad.mit.edu	37	chr1	17599873	17599873	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tacgttcaggcgccgcacaaGaccctcccggtggtctttga	7	9	11	14	4	2	2	1	1	1	1	3	2	3	2	3	3	1	2	3	3	2	3			TCGA-FC-A4JI-01A-11D-A257-08	TCGA-FC-A4JI-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf6e6dd2-52d7-488b-8552-3e174d19744f	d4794705-4c1b-44dc-9a70-ee6671ee7c62	g.chr1:17599873G>C	ENST00000375460.3	+	10	1126	c.1086G>C	c.(1084-1086)aaG>aaC	p.K362N		NM_016233.2	NP_057317.2	Q9ULW8	PADI3_HUMAN	peptidyl arginine deiminase, type III	362					protein citrullination (GO:0018101)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|protein-arginine deiminase activity (GO:0004668)			breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|liver(2)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;1.17e-05)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	L-Citrulline(DB00155)	CGCCGCACAAGACCCTCCCGG	0.602																																						ENST00000375460.3																			0				breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|liver(2)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(1084-1086)aaG>aaC		peptidyl arginine deiminase, type III	L-Citrulline(DB00155)						59	59	59					1																	17599873		2203	4300	6503	SO:0001583	missense	51702				peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity	g.chr1:17599873G>C	AB026831	CCDS179.1	1p36.13	2008-02-05			ENSG00000142619	ENSG00000142619	3.5.3.15	"Peptidyl arginine deiminases"	18337	protein-coding gene	gene with protein product		606755				11069618	Standard	NM_016233		Approved	PDI3	uc001bai.3	Q9ULW8	OTTHUMG00000002373	ENST00000375460.3:c.1086G>C	1.37:g.17599873G>C	ENSP00000364609:p.Lys362Asn						p.K362N	NM_016233.2	NP_057317.2	Q9ULW8	PADI3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;1.17e-05)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	10	1126	+		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)	362					Q58EY7|Q70SX5	Missense_Mutation	SNP	ENST00000375460.3	37	c.1086G>C	CCDS179.1	.	.	.	.	.	.	.	.	.	.	G	17.14	3.312378	0.60414	.	.	ENSG00000142619	ENST00000375460	T	0.32988	1.43	5.31	3.45	0.39498	Protein-arginine deiminase, C-terminal (1);	0.062085	0.64402	D	0.000004	T	0.47637	0.1456	M	0.89785	3.06	0.37217	D	0.905057	P	0.48589	0.912	P	0.49192	0.602	T	0.59279	-0.7484	10	0.66056	D	0.02	-39.0138	9.0676	0.36473	0.2398:0.0:0.7602:0.0	.	362	Q9ULW8	PADI3_HUMAN	N	362	ENSP00000364609:K362N	ENSP00000364609:K362N	K	+	3	2	PADI3	17472460	1.000000	0.71417	1.000000	0.80357	0.919000	0.55068	0.541000	0.23207	0.624000	0.30286	0.511000	0.50034	AAG		0.602	PADI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006805.1			8	25	0	0	0	1	0	8	25					C	17599873	G	C	17599873	3	2	143	1	0	0	0	0	1	0	0	0	11379	933	33	5	1124	5	PADI3	1	17599873	Missense_Mutation	SNP	G	TCGA-FC-A4JI-01A-11D-A257-08	15517553	17599873	231650748	3	7139											
SLC44A5	204962	broad.mit.edu	37	chr1	75805314	75805314	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggtcatatgtccttggatcAcctgcatttaaaacaaagac	13	11	8	9	0	2	1	2	0	0	1	3	2	3	2	2	2	2	1	2	2	4	4			TCGA-FC-A4JI-01A-11D-A257-08	TCGA-FC-A4JI-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf6e6dd2-52d7-488b-8552-3e174d19744f	d4794705-4c1b-44dc-9a70-ee6671ee7c62	g.chr1:75805314A>G	ENST00000370855.5	-	4	167	c.54T>C	c.(52-54)ggT>ggC	p.G18G	SLC44A5_ENST00000370859.3_Splice_Site_p.G18G|SLC44A5_ENST00000535611.1_5'UTR|SLC44A5_ENST00000469525.1_5'UTR	NM_152697.4	NP_689910.2	Q8NCS7	CTL5_HUMAN	solute carrier family 44, member 5	18					glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				kidney(1)|large_intestine(13)|lung(35)|ovary(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						TCCTTGGATCACCTGCATTTA	0.323																																						ENST00000370855.5																			0				kidney(1)|large_intestine(13)|lung(35)|ovary(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						c.e4-1		solute carrier family 44, member 5							176	192	187					1																	75805314		2203	4300	6503	SO:0001630	splice_region_variant	204962					integral to membrane|plasma membrane	choline transmembrane transporter activity	g.chr1:75805314A>G	BC034580	CCDS667.1, CCDS44164.1	1p31.1	2013-05-22			ENSG00000137968	ENSG00000137968		"Solute carriers"	28524	protein-coding gene	gene with protein product						15715662	Standard	NM_152697		Approved	MGC34032, CTL5	uc001dgu.3	Q8NCS7	OTTHUMG00000009721	ENST00000370855.5:c.53-1T>C	1.37:g.75805314A>G						SLC44A5_ENST00000370859.3_Splice_Site_p.G18_splice|SLC44A5_ENST00000535611.1_5'UTR|SLC44A5_ENST00000469525.1_5'UTR	p.G18_splice	NM_152697.4	NP_689910.2	Q8NCS7	CTL5_HUMAN			4	167	-			18					B5MCU3|Q4G0K0|Q8NA44|Q8NB86	Splice_Site	SNP	ENST00000370855.5	37	c.52_splice	CCDS667.1																																																																																				0.323	SLC44A5-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000026921.1	NM_152697	Silent	42	156	0	0	0	1	0	42	156					G	75805314	A	G	75805314	5	3	143	1	0	0	0	0	0	0	1	0	14639	173	6	4	2300	4	SLC44A5	1	75805314	Splice_Site	SNP	A	TCGA-FC-A4JI-01A-11D-A257-08	58205441	75805314	173445307	4	7140											
BMP10	27302	broad.mit.edu	37	chr2	69092997	69092997	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccacggcattcataggcttcGtatccaggcggagcgatgat	9	9	12	11	4	1	1	1	1	0	0	3	3	2	2	2	4	1	3	2	4	2	4	rs557332981		TCGA-FC-A4JI-01A-11D-A257-08	TCGA-FC-A4JI-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf6e6dd2-52d7-488b-8552-3e174d19744f	d4794705-4c1b-44dc-9a70-ee6671ee7c62	g.chr2:69092997G>A	ENST00000295379.1	-	2	1199	c.1041C>T	c.(1039-1041)taC>taT	p.Y347Y		NM_014482.1	NP_055297.1	O95393	BMP10_HUMAN	bone morphogenetic protein 10	347					activin receptor signaling pathway (GO:0032924)|adult heart development (GO:0007512)|atrial cardiac muscle tissue morphogenesis (GO:0055009)|BMP signaling pathway (GO:0030509)|cardiac muscle cell proliferation (GO:0060038)|cardiac muscle hypertrophy in response to stress (GO:0014898)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|heart trabecula formation (GO:0060347)|negative regulation of cardiac muscle hypertrophy (GO:0010614)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of endothelial cell migration (GO:0010596)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|positive regulation of cell proliferation involved in heart morphogenesis (GO:2000138)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of sarcomere organization (GO:0060298)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cardiac muscle contraction (GO:0055117)|sarcomere organization (GO:0045214)|ventricular cardiac muscle cell development (GO:0055015)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Z disc (GO:0030018)	hormone activity (GO:0005179)|receptor serine/threonine kinase binding (GO:0033612)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(15)|ovary(2)	27						CATAGGCTTCGTATCCAGGCG	0.517													G|||	1	0.000199681	0	0	5008	,	,		19526	0		0	False		,,,				2504	0.001					ENST00000295379.1																			0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(15)|ovary(2)	27						c.(1039-1041)taC>taT		bone morphogenetic protein 10							116	110	112					2																	69092997		2203	4300	6503	SO:0001819	synonymous_variant	27302				activin receptor signaling pathway|adult heart development|atrial cardiac muscle tissue morphogenesis|BMP signaling pathway|cardiac muscle cell proliferation|heart trabecula formation|negative regulation of cardiac muscle hypertrophy|negative regulation of cell growth|negative regulation of endothelial cell migration|Notch signaling pathway|pathway-restricted SMAD protein phosphorylation|positive regulation of cardiac muscle cell proliferation|positive regulation of cardiac muscle hypertrophy|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent|sarcomere organization|ventricular cardiac muscle cell development|ventricular cardiac muscle tissue morphogenesis	cell surface|extracellular space|Z disc	cytokine activity|growth factor activity|receptor serine/threonine kinase binding	g.chr2:69092997G>A	AF101441	CCDS1890.1	2p13.2	2014-09-17			ENSG00000163217	ENSG00000163217		"Bone morphogenetic proteins", "Endogenous ligands"	20869	protein-coding gene	gene with protein product		608748				10072785	Standard	NM_014482		Approved		uc002sez.1	O95393	OTTHUMG00000129573	ENST00000295379.1:c.1041C>T	2.37:g.69092997G>A							p.Y347Y	NM_014482.1	NP_055297.1	O95393	BMP10_HUMAN			2	1199	-			347					Q53R17|Q6NTE0	Silent	SNP	ENST00000295379.1	37	c.1041C>T	CCDS1890.1																																																																																				0.517	BMP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251768.1	NM_014482		21	48	0	0	0	1	0	21	48					A	69092997	G	A	69092997	2	1	143	1	0	0	0	0	0	0	0	1	1457	1140	40	1		1	BMP10	2	69092997	Silent	SNP	G	TCGA-FC-A4JI-01A-11D-A257-08		69092997	174106376	5	7141											
LRRTM1	347730	broad.mit.edu	37	chr2	80530543	80530543	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctgcgcaggttgggcatgggCcggaaggtggtgttgggcag	5	8	21	7	2	0	0	0	0	0	0	0	1	0	1	1	7	1	5	1	7	1	2			TCGA-FC-A4JI-01A-11D-A257-08	TCGA-FC-A4JI-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf6e6dd2-52d7-488b-8552-3e174d19744f	d4794705-4c1b-44dc-9a70-ee6671ee7c62	g.chr2:80530543C>T	ENST00000295057.3	-	2	1058	c.402G>A	c.(400-402)cgG>cgA	p.R134R	CTNNA2_ENST00000466387.1_Intron|LRRTM1_ENST00000409148.1_Silent_p.R134R|CTNNA2_ENST00000496558.1_Intron|CTNNA2_ENST00000361291.4_Intron|CTNNA2_ENST00000402739.4_Intron|CTNNA2_ENST00000540488.1_Intron|CTNNA2_ENST00000541047.1_Intron	NM_178839.4	NP_849161.2	Q86UE6	LRRT1_HUMAN	leucine rich repeat transmembrane neuronal 1	134					exploration behavior (GO:0035640)|locomotory behavior (GO:0007626)|long-term synaptic potentiation (GO:0060291)|negative regulation of receptor internalization (GO:0002091)|protein localization to synapse (GO:0035418)|synapse organization (GO:0050808)	axon (GO:0030424)|cell junction (GO:0030054)|endoplasmic reticulum (GO:0005783)|excitatory synapse (GO:0060076)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)				NS(1)|breast(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(33)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	63						TGGGCATGGGCCGGAAGGTGG	0.622										HNSCC(69;0.2)																												ENST00000295057.3																			0				NS(1)|breast(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(33)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	63						c.(400-402)cgG>cgA		leucine rich repeat transmembrane neuronal 1							170	172	171					2																	80530543		2203	4300	6503	SO:0001819	synonymous_variant	347730					axon|endoplasmic reticulum membrane|growth cone|integral to membrane		g.chr2:80530543C>T	AY358310	CCDS1966.1	2p12	2004-06-22			ENSG00000162951	ENSG00000162951			19408	protein-coding gene	gene with protein product		610867				12676565	Standard	XR_244930		Approved	FLJ32082	uc002sok.1	Q86UE6	OTTHUMG00000130021	ENST00000295057.3:c.402G>A	2.37:g.80530543C>T		HNSCC(69;0.2)				CTNNA2_ENST00000361291.4_Intron|LRRTM1_ENST00000409148.1_Silent_p.R134R|CTNNA2_ENST00000496558.1_Intron|CTNNA2_ENST00000402739.4_Intron|CTNNA2_ENST00000466387.1_Intron|CTNNA2_ENST00000541047.1_Intron|CTNNA2_ENST00000540488.1_Intron	p.R134R	NM_178839.4	NP_849161.2	Q86UE6	LRRT1_HUMAN			2	1058	-			134					A8K397|D6W5K1|Q96DN1	Silent	SNP	ENST00000295057.3	37	c.402G>A	CCDS1966.1																																																																																				0.622	LRRTM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313614.1	NM_178839		40	58	0	0	0	1	0	40	58					T	80530543	C	T	80530543	2	4	143	1	0	0	0	0	0	0	0	1	9039	726	26	3		3	LRRTM1	2	80530543	Silent	SNP	C	TCGA-FC-A4JI-01A-11D-A257-08	11437546	80530543	162668830	6	7142											
NCKAP5	344148	broad.mit.edu	37	chr2	134275094	134275094	+	Frame_Shift_Del	DEL	C	C	-																															ctcaagctgtctctttccctCcatggatgaagttatttatt																										TCGA-FC-A4JI-01A-11D-A257-08	TCGA-FC-A4JI-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf6e6dd2-52d7-488b-8552-3e174d19744f	d4794705-4c1b-44dc-9a70-ee6671ee7c62	g.chr2:134275094delC	ENST00000409261.1	-	3	377	c.4delG	c.(4-6)gagfs	p.E2fs	NCKAP5_ENST00000409213.1_Frame_Shift_Del_p.E2fs|NCKAP5_ENST00000317721.6_Frame_Shift_Del_p.E2fs|NCKAP5_ENST00000405974.3_Frame_Shift_Del_p.E2fs	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	2										NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						CTCTTTCCCTCCATGGATGAA	0.378																																						ENST00000409261.1																			0				NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						c.(4-6)agfs		NCK-associated protein 5							74	73	73					2																	134275094		1819	4063	5882	SO:0001589	frameshift_variant	344148						protein binding	g.chr2:134275094delC	AB005217	CCDS46417.1, CCDS46418.1	2q21.2	2010-02-17			ENSG00000176771	ENSG00000176771			29847	protein-coding gene	gene with protein product	"Nck associated protein 5", "peripheral clock protein"	608789				9344857	Standard	NM_207363		Approved	NAP5, ERIH1, ERIH2	uc002ttp.3	O14513	OTTHUMG00000153573	ENST00000409261.1:c.4delG	2.37:g.134275094delC	ENSP00000387128:p.Glu2fs					NCKAP5_ENST00000405974.3_Frame_Shift_Del_p.E2fs|NCKAP5_ENST00000317721.6_Frame_Shift_Del_p.E2fs|NCKAP5_ENST00000409213.1_Frame_Shift_Del_p.E2fs	p.E2fs	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN			3	377	-			2					B8ZZL0|Q29SS9|Q29ST0|Q2NL90|Q6ZVE2|Q8NAS3	Frame_Shift_Del	DEL	ENST00000409261.1	37	c.4delG	CCDS46418.1																																																																																				0.378	NCKAP5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331663.1	NM_207481		2	4						2	4	---	---	---	---	-	134275094	C	-	134275094	7	5	143	1	0	1	0	1	0	0	0	0	10223	864	30	0	5797	0	NCKAP5	2	134275094	Frame_Shift_Del	DEL	C	TCGA-FC-A4JI-01A-11D-A257-08	53744551	134275094	108924279	7	7143											
ZEB2	9839	broad.mit.edu	37	chr2	145156431	145156431	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	attactcctggagtggtccaAtttttcaactggtttaatat	10	17	7	7	0	1	0	1	0	0	0	3	1	3	1	2	3	2	1	2	3	5	6			TCGA-FC-A4JI-01A-11D-A257-08	TCGA-FC-A4JI-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf6e6dd2-52d7-488b-8552-3e174d19744f	d4794705-4c1b-44dc-9a70-ee6671ee7c62	g.chr2:145156431A>G	ENST00000558170.2	-	8	3507	c.2323T>C	c.(2323-2325)Ttg>Ctg	p.L775L	ZEB2_ENST00000539609.3_Silent_p.L751L|ZEB2_ENST00000409487.3_Silent_p.L775L|ZEB2_ENST00000303660.4_Silent_p.L775L	NM_014795.3	NP_055610.1	O60315	ZEB2_HUMAN	zinc finger E-box binding homeobox 2	775					cell proliferation in forebrain (GO:0021846)|developmental pigmentation (GO:0048066)|hippocampus development (GO:0021766)|melanocyte migration (GO:0097324)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|neural tube closure (GO:0001843)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of melanin biosynthetic process (GO:0048023)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of melanosome organization (GO:1903056)|somitogenesis (GO:0001756)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|phosphatase regulator activity (GO:0019208)			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(6)|large_intestine(23)|lung(45)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	107				BRCA - Breast invasive adenocarcinoma(221;0.112)		GAGTGGTCCAATTTTTCAACT	0.403																																					Melanoma(33;1235 1264 5755 16332)	ENST00000558170.2																			0				breast(3)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(6)|large_intestine(23)|lung(45)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	107						c.(2323-2325)Ttg>Ctg		zinc finger E-box binding homeobox 2							160	170	167					2																	145156431		2203	4299	6502	SO:0001819	synonymous_variant	9839					cytoplasm|nucleolus	phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|SMAD binding|zinc ion binding	g.chr2:145156431A>G	AB011141	CCDS2186.1, CCDS54403.1	2q22.3	2013-01-08	2007-02-15	2007-02-15	ENSG00000169554	ENSG00000169554		"Zinc fingers, C2H2-type", "Homeoboxes / ZF class"	14881	protein-coding gene	gene with protein product	"SMAD interacting protein 1"	605802	"zinc finger homeobox 1b"	ZFHX1B			Standard	NM_014795		Approved	KIAA0569, SIP-1, SIP1	uc002tvu.3	O60315	OTTHUMG00000131834	ENST00000558170.2:c.2323T>C	2.37:g.145156431A>G						ZEB2_ENST00000539609.3_Silent_p.L751L|ZEB2_ENST00000303660.4_Silent_p.L775L|ZEB2_ENST00000409487.3_Silent_p.L775L	p.L775L	NM_014795.3	NP_055610.1	O60315	ZEB2_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.112)	8	3507	-			775					A0JP09|B7Z2P2|F5H814|Q9UED1	Silent	SNP	ENST00000558170.2	37	c.2323T>C	CCDS2186.1																																																																																				0.403	ZEB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254778.5	NM_014795		46	154	0	0	0	1	0	46	154					G	145156431	A	G	145156431	2	3	143	1	0	0	0	0	0	0	0	1	17621	98	4	4		4	ZEB2	2	145156431	Silent	SNP	A	TCGA-FC-A4JI-01A-11D-A257-08	10881337	145156431	98042942	8	7144											
LRP2	4036	broad.mit.edu	37	chr2	170068629	170068629	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttaaatccagtggcacaggcGcaggaaaacaatcctcctgg	13	7	10	11	1	0	0	0	0	0	0	3	1	3	1	3	4	1	2	3	4	5	1	rs111909155		TCGA-FC-A4JI-01A-11D-A257-08	TCGA-FC-A4JI-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf6e6dd2-52d7-488b-8552-3e174d19744f	d4794705-4c1b-44dc-9a70-ee6671ee7c62	g.chr2:170068629G>A	ENST00000263816.3	-	37	6414	c.6129C>T	c.(6127-6129)tgC>tgT	p.C2043C		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	2043	EGF-like 8. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"	TGGCACAGGCGCAGGAAAACA	0.448																																						ENST00000263816.3																			0				biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315						c.(6127-6129)tgC>tgT		low density lipoprotein receptor-related protein 2	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	G		0,4406		0,0,2203	109	118	115		6129	-9	0.7	2	dbSNP_132	115	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	LRP2	NM_004525.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		2043/4656	170068629	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	4036				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding	g.chr2:170068629G>A		CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"Low density lipoprotein receptors"	6694	protein-coding gene	gene with protein product	"megalin"	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.6129C>T	2.37:g.170068629G>A							p.C2043C	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN		STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	37	6414	-			2043			EGF-like 8.		O00711|Q16215	Silent	SNP	ENST00000263816.3	37	c.6129C>T	CCDS2232.1																																																																																				0.448	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2	NM_004525		21	91	0	0	0	1	0	21	91					A	170068629	G	A	170068629	2	1	143	1	0	0	0	0	0	0	0	1	8956	1079	38	1		1	LRP2	2	170068629	Silent	SNP	G	TCGA-FC-A4JI-01A-11D-A257-08	24912198	170068629	73130744	9	7145											
CRYGA	1418	broad.mit.edu	37	chr2	209027941	209027941	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gactcacatgaggaattataCggcaggattggaccgagtcg	12	8	13	8	3	1	1	1	1	0	0	2	6	1	4	1	4	1	1	1	4	3	3	rs139353014	byFrequency	TCGA-FC-A4JI-01A-11D-A257-08	TCGA-FC-A4JI-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf6e6dd2-52d7-488b-8552-3e174d19744f	d4794705-4c1b-44dc-9a70-ee6671ee7c62	g.chr2:209027941C>T	ENST00000304502.4	-	2	258	c.239G>A	c.(238-240)cGt>cAt	p.R80H		NM_014617.3	NP_055432.2	P11844	CRGA_HUMAN	crystallin, gamma A	80	Beta/gamma crystallin 'Greek key' 2. {ECO:0000255|PROSITE-ProRule:PRU00028}.				lens development in camera-type eye (GO:0002088)|visual perception (GO:0007601)		structural constituent of eye lens (GO:0005212)			endometrium(1)|kidney(3)|large_intestine(1)|lung(7)	12				Epithelial(149;0.067)|LUSC - Lung squamous cell carcinoma(261;0.0708)|Lung(261;0.135)		AGGAATTATACGGCAGGATTG	0.498													C|||	11	0.00219649	0	0.0014	5008	,	,		17676	0		0.005	False		,,,				2504	0.0051					ENST00000304502.4																			0				endometrium(1)|kidney(3)|large_intestine(1)|lung(7)	12						c.(238-240)cGt>cAt		crystallin, gamma A		C	HIS/ARG	2,4404	4.2+/-10.8	0,2,2201	69	73	72		239	-1.3	0	2	dbSNP_134	72	25,8575	17.3+/-56.4	1,23,4276	yes	missense	CRYGA	NM_014617.3	29	1,25,6477	TT,TC,CC		0.2907,0.0454,0.2076	benign	80/175	209027941	27,12979	2203	4300	6503	SO:0001583	missense	1418							g.chr2:209027941C>T		CCDS33367.1	2q34	2013-02-14			ENSG00000168582	ENSG00000168582			2408	protein-coding gene	gene with protein product	"gamma crystallin 5"	123660		CRYG1			Standard	NM_014617		Approved	CRYG5, CRY-g-A		P11844	OTTHUMG00000154796	ENST00000304502.4:c.239G>A	2.37:g.209027941C>T	ENSP00000302105:p.Arg80His						p.R80H	NM_014617.3	NP_055432.2				Epithelial(149;0.067)|LUSC - Lung squamous cell carcinoma(261;0.0708)|Lung(261;0.135)	2	258	-								Q53ST5	Missense_Mutation	SNP	ENST00000304502.4	37	c.239G>A	CCDS33367.1	4	0.0018315018315018315	0	0.0	1	0.0027624309392265192	0	0.0	3	0.00395778364116095	C	13.16	2.155217	0.38021	4.54E-4	0.002907	ENSG00000168582	ENST00000304502	D	0.82984	-1.67	4.64	-1.3	0.09259	Beta/gamma crystallin (4);Gamma-crystallin-related (1);	0.171461	0.50627	N	0.000117	D	0.84383	0.5460	H	0.96996	3.92	0.42466	D	0.992809	P	0.47302	0.893	B	0.36504	0.226	T	0.82936	-0.0210	10	0.54805	T	0.06	.	9.5546	0.39330	0.0:0.5511:0.0:0.4489	.	80	P11844	CRGA_HUMAN	H	80	ENSP00000302105:R80H	ENSP00000302105:R80H	R	-	2	0	CRYGA	208736186	0.218000	0.23608	0.023000	0.16930	0.070000	0.16714	0.859000	0.27858	-0.361000	0.08125	-0.345000	0.07892	CGT		0.498	CRYGA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337096.1	NM_014617		32	27	0	0	0	1	0	32	27					T	209027941	C	T	209027941	3	4	143	1	0	0	0	0	1	0	0	0	3914	536	19	1	293	1	CRYGA	2	209027941	Missense_Mutation	SNP	C	TCGA-FC-A4JI-01A-11D-A257-08	38959312	209027941	34171432	10	7146											
C2orf80	389073	broad.mit.edu	37	chr2	209036736	209036736	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tttgcgggcgtatgctgctgCtttgggtgctgttaacatgg	4	15	15	7	2	0	0	0	0	0	0	0	0	0	0	0	3	6	6	0	3	2	4			TCGA-FC-A4JI-01A-11D-A257-08	TCGA-FC-A4JI-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf6e6dd2-52d7-488b-8552-3e174d19744f	d4794705-4c1b-44dc-9a70-ee6671ee7c62	g.chr2:209036736C>A	ENST00000341287.4	-	7	625	c.430G>T	c.(430-432)Gca>Tca	p.A144S	C2orf80_ENST00000451346.1_Missense_Mutation_p.A125S|C2orf80_ENST00000453017.1_Intron	NM_001099334.2	NP_001092804	Q0P641	CB080_HUMAN	chromosome 2 open reading frame 80	144										endometrium(2)|large_intestine(3)|lung(6)|skin(2)	13						TATGCTGCTGCTTTGGGTGCT	0.463																																						ENST00000341287.4																			0				endometrium(2)|large_intestine(3)|lung(6)|skin(2)	13						c.(430-432)Gca>Tca		chromosome 2 open reading frame 80							239	242	241					2																	209036736		1954	4150	6104	SO:0001583	missense	389073							g.chr2:209036736C>A	AC016697, AW136505, BC035737	CCDS42809.1	2q33.3	2013-10-31			ENSG00000188674	ENSG00000188674			34352	protein-coding gene	gene with protein product	"gonad development associated 1"	615536				22080834, 24055526	Standard	NM_001099334		Approved	LOC389073, GONDA1	uc002vcr.3	Q0P641	OTTHUMG00000154751	ENST00000341287.4:c.430G>T	2.37:g.209036736C>A	ENSP00000343171:p.Ala144Ser					C2orf80_ENST00000453017.1_Intron|C2orf80_ENST00000451346.1_Missense_Mutation_p.A125S	p.A144S	NM_001099334.2	NP_001092804.1	Q0P641	CB080_HUMAN			7	625	-			144					A6NKZ3	Missense_Mutation	SNP	ENST00000341287.4	37	c.430G>T	CCDS42809.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.31|18.31	3.596327|3.596327	0.66332|0.66332	.|.	.|.	ENSG00000188674|ENSG00000188674	ENST00000451342;ENST00000341287;ENST00000451346;ENST00000423952|ENST00000428015	T;T;T;T|.	0.49432|.	0.88;1.38;1.27;0.78|.	5.25|5.25	5.25|5.25	0.73442|0.73442	.|.	0.000000|.	0.53938|.	D|.	0.000054|.	T|T	0.57651|0.57651	0.2068|0.2068	L|L	0.34521|0.34521	1.04|1.04	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.85130|.	0.997|.	T|T	0.50499|0.50499	-0.8821|-0.8821	10|5	0.87932|.	D|.	0|.	-18.1825|-18.1825	16.2046|16.2046	0.82114|0.82114	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	144|.	Q0P641|.	CB080_HUMAN|.	S|I	69;144;125;57|95	ENSP00000389385:A69S;ENSP00000343171:A144S;ENSP00000405393:A125S;ENSP00000413016:A57S|.	ENSP00000343171:A144S|.	A|S	-|-	1|2	0|0	C2orf80|C2orf80	208744981|208744981	1.000000|1.000000	0.71417|0.71417	0.995000|0.995000	0.50966|0.50966	0.243000|0.243000	0.25628|0.25628	4.558000|4.558000	0.60789|0.60789	2.885000|2.885000	0.99019|0.99019	0.650000|0.650000	0.86243|0.86243	GCA|AGC		0.463	C2orf80-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336931.1	NM_001099334		55	154	1	0	1.67886e-27	1	1.77762e-27	55	154					A	209036736	C	A	209036736	3	1	143	1	0	0	0	0	1	0	0	0	2197	797	28	5	163	5	C2orf80	2	209036736	Missense_Mutation	SNP	C	TCGA-FC-A4JI-01A-11D-A257-08	8795	209036736	34162637	11	7147											
PTPRN	5798	broad.mit.edu	37	chr2	220162005	220162005	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gttggcttgggccggctcctCgcaccaggacggggtgctgc	3	8	17	13	3	0	0	0	0	0	0	2	1	1	1	3	6	2	5	3	6	0	2			TCGA-FC-A4JI-01A-11D-A257-08	TCGA-FC-A4JI-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf6e6dd2-52d7-488b-8552-3e174d19744f	d4794705-4c1b-44dc-9a70-ee6671ee7c62	g.chr2:220162005C>T	ENST00000295718.2	-	14	2278	c.2038G>A	c.(2038-2040)Gag>Aag	p.E680K	PTPRN_ENST00000409251.3_Missense_Mutation_p.E651K|PTPRN_ENST00000497977.1_5'Flank|AC114803.3_ENST00000417355.1_RNA|PTPRN_ENST00000423636.2_Missense_Mutation_p.E590K	NM_002846.3	NP_002837.1	Q16849	PTPRN_HUMAN	protein tyrosine phosphatase, receptor type, N	680					cytokine-mediated signaling pathway (GO:0019221)|peptidyl-tyrosine dephosphorylation (GO:0035335)|response to cAMP (GO:0051591)|response to estrogen (GO:0043627)|response to glucose (GO:0009749)|response to insulin (GO:0032868)|response to reactive oxygen species (GO:0000302)	integral component of plasma membrane (GO:0005887)	spectrin binding (GO:0030507)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(3)|prostate(4)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Renal(207;0.0474)		Epithelial(149;4.22e-07)|all cancers(144;8.82e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)|STAD - Stomach adenocarcinoma(1183;0.0875)		GCCGGCTCCTCGCACCAGGAC	0.652																																						ENST00000295718.2																			0				breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(3)|prostate(4)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						c.(2038-2040)Gag>Aag		protein tyrosine phosphatase, receptor type, N							52	49	50					2																	220162005		2203	4300	6503	SO:0001583	missense	5798				response to reactive oxygen species	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity	g.chr2:220162005C>T		CCDS2440.1, CCDS56167.1, CCDS56168.1	2q35-q36.1	2011-06-09			ENSG00000054356	ENSG00000054356		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"	9676	protein-coding gene	gene with protein product		601773				8024693	Standard	NM_001199763		Approved	IA-2	uc002vkz.3	Q16849	OTTHUMG00000133129	ENST00000295718.2:c.2038G>A	2.37:g.220162005C>T	ENSP00000295718:p.Glu680Lys					PTPRN_ENST00000423636.2_Missense_Mutation_p.E590K|PTPRN_ENST00000409251.3_Missense_Mutation_p.E651K	p.E680K	NM_002846.3	NP_002837.1	Q16849	PTPRN_HUMAN		Epithelial(149;4.22e-07)|all cancers(144;8.82e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)|STAD - Stomach adenocarcinoma(1183;0.0875)	14	2278	-		Renal(207;0.0474)	680					B4DK12|F5GZS3|Q08319|Q53QD6|Q6NSL1	Missense_Mutation	SNP	ENST00000295718.2	37	c.2038G>A	CCDS2440.1	.	.	.	.	.	.	.	.	.	.	C	26.3	4.723666	0.89298	.	.	ENSG00000054356	ENST00000409251;ENST00000295718;ENST00000539342;ENST00000537666	T;T;T	0.14266	2.52;2.52;2.52	4.28	4.28	0.50868	.	0.000000	0.64402	D	0.000001	T	0.41236	0.1150	M	0.82823	2.61	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.81914	0.986;0.995	T	0.47623	-0.9103	10	0.62326	D	0.03	.	16.5377	0.84377	0.0:1.0:0.0:0.0	.	651;680	Q6NSL1;Q16849	.;PTPRN_HUMAN	K	651;680;651;590	ENSP00000386638:E651K;ENSP00000295718:E680K;ENSP00000444244:E590K	ENSP00000295718:E680K	E	-	1	0	PTPRN	219870249	1.000000	0.71417	0.992000	0.48379	0.820000	0.46376	7.115000	0.77110	2.216000	0.71823	0.561000	0.74099	GAG		0.652	PTPRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256819.2			25	20	0	0	0	1	0	25	20					T	220162005	C	T	220162005	3	4	143	1	0	0	0	0	1	0	0	0	12807	893	31	2	941	2	PTPRN	2	220162005	Missense_Mutation	SNP	C	TCGA-FC-A4JI-01A-11D-A257-08	11125269	220162005	23037368	12	7148											
GNAI2	2771	broad.mit.edu	37	chr3	50289913	50289913	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aacaccatccagtccatcatGgccattgtcaaagccatggg	12	8	8	13	0	2	0	2	0	0	0	4	0	4	0	5	2	2	0	5	2	2	1			TCGA-FC-A4JI-01A-11D-A257-08	TCGA-FC-A4JI-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf6e6dd2-52d7-488b-8552-3e174d19744f	d4794705-4c1b-44dc-9a70-ee6671ee7c62	g.chr3:50289913G>C	ENST00000313601.6	+	3	630	c.246G>C	c.(244-246)atG>atC	p.M82I	GNAI2_ENST00000422163.1_Missense_Mutation_p.M66I|GNAI2_ENST00000491100.1_3'UTR|GNAI2_ENST00000266027.5_Missense_Mutation_p.M66I|GNAI2_ENST00000536647.1_Start_Codon_SNP_p.M1I|GNAI2_ENST00000451956.1_Missense_Mutation_p.M45I|GNAI2_ENST00000440628.1_Missense_Mutation_p.M30I	NM_002070.2	NP_002061.1	P04899	GNAI2_HUMAN	guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 2	82					activation of MAPKK activity (GO:0000186)|adenosine receptor signaling pathway (GO:0001973)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|blood coagulation (GO:0007596)|cell cycle (GO:0007049)|cell division (GO:0051301)|cell proliferation (GO:0008283)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|G-protein coupled receptor signaling pathway (GO:0007186)|gamma-aminobutyric acid signaling pathway (GO:0007214)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of synaptic transmission (GO:0050805)|platelet activation (GO:0030168)|positive regulation of cell proliferation (GO:0008284)|regulation of calcium ion transport (GO:0051924)|response to nutrient (GO:0007584)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|membrane (GO:0016020)|membrane raft (GO:0045121)|midbody (GO:0030496)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	G-protein beta/gamma-subunit complex binding (GO:0031683)|G-protein coupled receptor binding (GO:0001664)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|liver(2)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	16				BRCA - Breast invasive adenocarcinoma(193;0.000288)|KIRC - Kidney renal clear cell carcinoma(197;0.00571)|Kidney(197;0.00651)		AGTCCATCATGGCCATTGTCA	0.597																																						ENST00000313601.6																			0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|liver(2)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	16						c.(244-246)atG>atC		guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 2							75	65	68					3																	50289913		2203	4300	6503	SO:0001583	missense	2771				adenosine receptor signaling pathway|cell cycle|cell division|gamma-aminobutyric acid signaling pathway|inhibition of adenylate cyclase activity by G-protein signaling pathway|negative regulation of calcium ion transport via voltage-gated calcium channel activity|platelet activation|response to nutrient|synaptic transmission	centrosome|heterotrimeric G-protein complex|midbody	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity	g.chr3:50289913G>C	X04828	CCDS2813.1, CCDS54587.1, CCDS63642.1, CCDS63644.1	3p21.31	2010-08-27			ENSG00000114353	ENSG00000114353			4385	protein-coding gene	gene with protein product	"GTP-binding regulatory protein Gi alpha-2 chain"	139360		GNAI2B		3100330, 1733849	Standard	NM_001166425		Approved	GIP	uc003cyq.1	P04899	OTTHUMG00000156940	ENST00000313601.6:c.246G>C	3.37:g.50289913G>C	ENSP00000312999:p.Met82Ile					GNAI2_ENST00000440628.1_Missense_Mutation_p.M30I|GNAI2_ENST00000422163.1_Missense_Mutation_p.M66I|GNAI2_ENST00000266027.5_Missense_Mutation_p.M66I|GNAI2_ENST00000451956.1_Missense_Mutation_p.M45I|GNAI2_ENST00000536647.1_Start_Codon_SNP_p.M1I|GNAI2_ENST00000491100.1_3'UTR	p.M82I	NM_002070.2	NP_002061.1	P04899	GNAI2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000288)|KIRC - Kidney renal clear cell carcinoma(197;0.00571)|Kidney(197;0.00651)	3	630	+			82					B3KTZ0|B4DYA0|B4E2X5|Q6B6N3|Q8IZ71	Missense_Mutation	SNP	ENST00000313601.6	37	c.246G>C	CCDS2813.1	.	.	.	.	.	.	.	.	.	.	G	11.48	1.652533	0.29336	.	.	ENSG00000114353	ENST00000422163;ENST00000313601;ENST00000536647;ENST00000540560;ENST00000440628;ENST00000451956;ENST00000266027	D;D;D;D;D;D	0.87809	-2.3;-2.3;-1.73;-2.3;-2.3;-2.3	5.1	5.1	0.69264	G protein alpha subunit, helical insertion (2);	0.000000	0.85682	D	0.000000	T	0.72676	0.3490	N	0.05441	-0.05	0.52099	D	0.999947	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.09377	0.002;0.002;0.004;0.002	T	0.68096	-0.5499	10	0.02654	T	1	.	16.8172	0.85737	0.0:0.0:1.0:0.0	.	45;82;66;66	B4DYA0;P04899;B3KTZ0;P04899-2	.;GNAI2_HUMAN;.;.	I	66;82;1;82;30;45;66	ENSP00000406871:M66I;ENSP00000312999:M82I;ENSP00000444360:M1I;ENSP00000395736:M30I;ENSP00000406369:M45I;ENSP00000266027:M66I	ENSP00000266027:M66I	M	+	3	0	GNAI2	50264917	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.640000	0.74319	2.757000	0.94681	0.655000	0.94253	ATG		0.597	GNAI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346688.1	NM_002070		19	32	0	0	0	1	0	19	32					C	50289913	G	C	50289913	3	2	143	1	0	0	0	0	1	0	0	0	6505	1348	47	5	267	5	GNAI2	3	50289913	Missense_Mutation	SNP	G	TCGA-FC-A4JI-01A-11D-A257-08		50289913	147732517	13	7149											
LEPREL1	55214	broad.mit.edu	37	chr3	189838441	189838441	+	Frame_Shift_Del	DEL	G	G	-																															gctcccggcgtgggctgtccGgggggccgccccacagtggc																										TCGA-FC-A4JI-01A-11D-A257-08	TCGA-FC-A4JI-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf6e6dd2-52d7-488b-8552-3e174d19744f	d4794705-4c1b-44dc-9a70-ee6671ee7c62	g.chr3:189838441delG	ENST00000319332.5	-	1	277	c.80delC	c.(79-81)ccgfs	p.P27fs	LEPREL1-AS1_ENST00000412203.1_RNA|LEPREL1_ENST00000427335.2_Intron	NM_018192.3	NP_060662.2	Q8IVL5	P3H2_HUMAN	leprecan-like 1	27					collagen metabolic process (GO:0032963)|extracellular matrix organization (GO:0030198)|negative regulation of cell proliferation (GO:0008285)|peptidyl-proline hydroxylation (GO:0019511)	basement membrane (GO:0005604)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|Golgi apparatus (GO:0005794)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|procollagen-proline 3-dioxygenase activity (GO:0019797)			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(5)	41	all_cancers(143;4.01e-10)|Ovarian(172;0.0925)		Lung(62;4.35e-05)	GBM - Glioblastoma multiforme(93;0.02)	L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	TGGGCTGTCCGGGGGGCCGCC	0.746																																						ENST00000319332.5																			0				NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(5)	41						c.(79-81)cgfs		leprecan-like 1	L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)						2	2	2					3																	189838441		1261	2868	4129	SO:0001589	frameshift_variant	55214				collagen metabolic process|negative regulation of cell proliferation|peptidyl-proline hydroxylation	basement membrane|endoplasmic reticulum|Golgi apparatus	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 3-dioxygenase activity	g.chr3:189838441delG		CCDS3294.1, CCDS46981.1	3q29	2014-01-28			ENSG00000090530	ENSG00000090530	1.14.11.7		19317	protein-coding gene	gene with protein product	"prolyl 3-hydroxylase 2"	610341				15063763, 21885030	Standard	NM_018192		Approved	FLJ10718, MLAT4, P3H2	uc011bsk.2	Q8IVL5	OTTHUMG00000156312	ENST00000319332.5:c.80delC	3.37:g.189838441delG	ENSP00000316881:p.Pro27fs					LEPREL1_ENST00000427335.2_Intron	p.P27fs	NM_018192.3	NP_060662.2	Q8IVL5	P3H2_HUMAN	Lung(62;4.35e-05)	GBM - Glioblastoma multiforme(93;0.02)	1	277	-	all_cancers(143;4.01e-10)|Ovarian(172;0.0925)		27					B3KPK0|B3KWI9|D3DNV8|Q9NVI2	Frame_Shift_Del	DEL	ENST00000319332.5	37	c.80delC	CCDS3294.1																																																																																				0.746	LEPREL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343855.1	NM_018192		2	4						2	4	---	---	---	---	-	189838441	G	-	189838441	7	5	143	1	0	1	0	1	0	0	0	0	8730	1116	39	0	2106	0	LEPREL1	3	189838441	Frame_Shift_Del	DEL	G	TCGA-FC-A4JI-01A-11D-A257-08	139548528	189838441	8183989	14	7150											
HTT	3064	broad.mit.edu	37	chr4	3234976	3234976	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcagggttggagccctgcaCggcgtcctctatgtgctgga	6	9	15	11	2	1	0	0	0	1	0	2	2	2	2	2	4	4	4	2	4	1	2			TCGA-FC-A4JI-01A-11D-A257-08	TCGA-FC-A4JI-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf6e6dd2-52d7-488b-8552-3e174d19744f	d4794705-4c1b-44dc-9a70-ee6671ee7c62	g.chr4:3234976C>T	ENST00000355072.5	+	61	8497	c.8352C>T	c.(8350-8352)caC>caT	p.H2784H	HTT_ENST00000513806.1_Intron	NM_002111.6	NP_002102	P42858	HD_HUMAN	huntingtin	2784					anterior/posterior pattern specification (GO:0009952)|axon cargo transport (GO:0008088)|cell aging (GO:0007569)|citrulline metabolic process (GO:0000052)|determination of adult lifespan (GO:0008340)|dopamine receptor signaling pathway (GO:0007212)|endoplasmic reticulum organization (GO:0007029)|endosomal transport (GO:0016197)|ER to Golgi vesicle-mediated transport (GO:0006888)|establishment of mitotic spindle orientation (GO:0000132)|Golgi organization (GO:0007030)|grooming behavior (GO:0007625)|hormone metabolic process (GO:0042445)|insulin secretion (GO:0030073)|iron ion homeostasis (GO:0055072)|L-glutamate import (GO:0051938)|lactate biosynthetic process from pyruvate (GO:0019244)|locomotory behavior (GO:0007626)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of neuron apoptotic process (GO:0043524)|neural plate formation (GO:0021990)|neuron apoptotic process (GO:0051402)|neuron development (GO:0048666)|olfactory lobe development (GO:0021988)|organ development (GO:0048513)|paraxial mesoderm formation (GO:0048341)|positive regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031587)|protein import into nucleus (GO:0006606)|quinolinate biosynthetic process (GO:0019805)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of protein phosphatase type 2A activity (GO:0034047)|regulation of synaptic plasticity (GO:0048167)|response to calcium ion (GO:0051592)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|social behavior (GO:0035176)|spermatogenesis (GO:0007283)|striatum development (GO:0021756)|urea cycle (GO:0000050)|vesicle transport along microtubule (GO:0047496)|visual learning (GO:0008542)	autophagic vacuole (GO:0005776)|axon (GO:0030424)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|inclusion body (GO:0016234)|late endosome (GO:0005770)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein complex (GO:0043234)	beta-tubulin binding (GO:0048487)|diazepam binding (GO:0050809)|dynactin binding (GO:0034452)|dynein intermediate chain binding (GO:0045505)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|p53 binding (GO:0002039)|transcription factor binding (GO:0008134)			breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		GAGCCCTGCACGGCGTCCTCT	0.637																																						ENST00000355072.5																			0				breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87						c.(8350-8352)caC>caT		huntingtin							91	103	99					4																	3234976		2121	4238	6359	SO:0001819	synonymous_variant	3064				establishment of mitotic spindle orientation|Golgi organization|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule	autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|Golgi apparatus|late endosome|membrane fraction|nucleus|protein complex	beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding	g.chr4:3234976C>T	L12392	CCDS43206.1	4p16.3	2014-09-17	2007-12-04	2007-12-04	ENSG00000197386	ENSG00000197386		"Endogenous ligands"	4851	protein-coding gene	gene with protein product		613004	"huntingtin (Huntington disease)"	HD		8458085	Standard	NM_002111		Approved	IT15	uc021xkv.1	P42858	OTTHUMG00000159916	ENST00000355072.5:c.8352C>T	4.37:g.3234976C>T						HTT_ENST00000513806.1_Intron	p.H2784H	NM_002111.6	NP_002102.4	P42858	HD_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)	61	8497	+		all_epithelial(65;0.18)	2784					Q9UQB7	Silent	SNP	ENST00000355072.5	37	c.8352C>T	CCDS43206.1																																																																																				0.637	HTT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358234.2	NM_002111		28	95	0	0	0	1	0	28	95					T	3234976	C	T	3234976	2	4	143	1	0	0	0	0	0	0	0	1	7457	535	19	1		1	HTT	4	3234976	Silent	SNP	C	TCGA-FC-A4JI-01A-11D-A257-08		3234976	187919300	15	7151											
NNT	23530	broad.mit.edu	37	chr5	43624173	43624173	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtgttgctgggcttgcttctGcaggcgcagcaaagtcgatg	6	11	15	9	2	1	0	0	0	1	0	2	1	1	0	0	2	4	7	0	2	1	3	rs548915718		TCGA-FC-A4JI-01A-11D-A257-08	TCGA-FC-A4JI-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf6e6dd2-52d7-488b-8552-3e174d19744f	d4794705-4c1b-44dc-9a70-ee6671ee7c62	g.chr5:43624173G>A	ENST00000264663.5	+	6	948	c.727G>A	c.(727-729)Gca>Aca	p.A243T	NNT_ENST00000512996.2_Missense_Mutation_p.A112T|NNT_ENST00000344920.4_Missense_Mutation_p.A243T	NM_012343.3	NP_036475.3	Q13423	NNTM_HUMAN	nicotinamide nucleotide transhydrogenase	243					cellular metabolic process (GO:0044237)|hydrogen ion transmembrane transport (GO:1902600)|oxidation-reduction process (GO:0055114)|proton transport (GO:0015992)|reactive oxygen species metabolic process (GO:0072593)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain (GO:0005746)|mitochondrion (GO:0005739)	NAD binding (GO:0051287)|NAD(P)+ transhydrogenase (AB-specific) activity (GO:0008750)|NAD(P)+ transhydrogenase (B-specific) activity (GO:0003957)|NAD(P)+ transhydrogenase activity (GO:0008746)|NADP binding (GO:0050661)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(7)|large_intestine(6)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	Lung NSC(6;2.58e-06)					GCTTGCTTCTGCAGGCGCAGC	0.413																																						ENST00000264663.5																			0				breast(1)|central_nervous_system(2)|endometrium(2)|kidney(7)|large_intestine(6)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						c.(727-729)Gca>Aca		nicotinamide nucleotide transhydrogenase	NADH(DB00157)						342	314	324					5																	43624173		2203	4300	6503	SO:0001583	missense	23530				tricarboxylic acid cycle	integral to membrane|mitochondrial respiratory chain	NAD binding|NAD(P)+ transhydrogenase (AB-specific) activity|NAD(P)+ transhydrogenase (B-specific) activity|NADP binding	g.chr5:43624173G>A	U40490	CCDS3949.1	5p12	2008-02-05			ENSG00000112992	ENSG00000112992	1.6.1.1		7863	protein-coding gene	gene with protein product		607878				9271681, 9524818	Standard	NM_182977		Approved		uc003jof.3	Q13423	OTTHUMG00000096961	ENST00000264663.5:c.727G>A	5.37:g.43624173G>A	ENSP00000264663:p.Ala243Thr					NNT_ENST00000344920.4_Missense_Mutation_p.A243T|NNT_ENST00000512996.2_Missense_Mutation_p.A112T	p.A243T	NM_012343.3	NP_036475.3	Q13423	NNTM_HUMAN			6	948	+	Lung NSC(6;2.58e-06)		243					Q16796|Q2TB60|Q8N3V4	Missense_Mutation	SNP	ENST00000264663.5	37	c.727G>A	CCDS3949.1	.	.	.	.	.	.	.	.	.	.	G	36	5.667540	0.96745	.	.	ENSG00000112992	ENST00000264663;ENST00000344920;ENST00000512996	D;D;D	0.91011	-2.77;-2.77;-2.77	5.89	5.89	0.94794	Alanine dehydrogenase/pyridine nucleotide transhydrogenase, conserved site-2 (1);Alanine dehydrogenase/PNT, C-terminal (1);NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.92466	0.7608	M	0.72624	2.21	0.80722	D	1	P	0.38863	0.65	B	0.43701	0.428	D	0.92487	0.5997	10	0.87932	D	0	-14.2183	20.2566	0.98424	0.0:0.0:1.0:0.0	.	243	Q13423	NNTM_HUMAN	T	243;243;112	ENSP00000264663:A243T;ENSP00000343873:A243T;ENSP00000426343:A112T	ENSP00000264663:A243T	A	+	1	0	NNT	43659930	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	9.334000	0.96470	2.793000	0.96121	0.561000	0.74099	GCA		0.413	NNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214026.1	NM_182977		89	141	0	0	0	1	0	89	141					A	43624173	G	A	43624173	3	1	143	1	0	0	0	0	1	0	0	0	10510	1319	46	3	745	3	NNT	5	43624173	Missense_Mutation	SNP	G	TCGA-FC-A4JI-01A-11D-A257-08		43624173	137291087	16	7152											
KIF13A	63971	broad.mit.edu	37	chr6	17828567	17828567	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctatgccaaaaagctggataTcttgagaggtatctgcaccc	12	10	9	10	0	2	1	0	1	2	1	2	3	2	2	2	2	3	3	2	2	5	4			TCGA-FC-A4JI-01A-11D-A257-08	TCGA-FC-A4JI-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf6e6dd2-52d7-488b-8552-3e174d19744f	d4794705-4c1b-44dc-9a70-ee6671ee7c62	g.chr6:17828567T>C	ENST00000259711.6	-	14	1541	c.1436A>G	c.(1435-1437)gAt>gGt	p.D479G	KIF13A_ENST00000378814.5_Missense_Mutation_p.D479G|KIF13A_ENST00000378816.5_Missense_Mutation_p.D479G|KIF13A_ENST00000378826.2_Missense_Mutation_p.D479G|KIF13A_ENST00000378843.2_Missense_Mutation_p.D479G	NM_022113.5	NP_071396.4	Q9H1H9	KI13A_HUMAN	kinesin family member 13A	479	FHA.				ATP catabolic process (GO:0006200)|cargo loading into vesicle (GO:0035459)|cytokinesis (GO:0000910)|endosome to lysosome transport (GO:0008333)|Golgi to plasma membrane protein transport (GO:0043001)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|plus-end-directed vesicle transport along microtubule (GO:0072383)	centrosome (GO:0005813)|endosome membrane (GO:0010008)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|midbody (GO:0030496)|trans-Golgi network membrane (GO:0032588)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	64	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	all cancers(50;0.0865)|Epithelial(50;0.0974)			AAGCTGGATATCTTGAGAGGT	0.403																																						ENST00000378814.5																			0				breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	64						c.(1435-1437)gAt>gGt		kinesin family member 13A							70	65	67					6																	17828567		1895	4115	6010	SO:0001583	missense	63971				cargo loading into vesicle|cell cycle|cytokinesis|endosome to lysosome transport|Golgi to plasma membrane protein transport|melanosome organization|plus-end-directed vesicle transport along microtubule	centrosome|endosome membrane|microtubule|midbody|trans-Golgi network membrane	ATP binding|microtubule motor activity|protein binding	g.chr6:17828567T>C	AJ291578	CCDS47380.1, CCDS47381.1, CCDS54967.1, CCDS54968.1, CCDS58998.1	6p23	2008-10-21			ENSG00000137177	ENSG00000137177		"Kinesins"	14566	protein-coding gene	gene with protein product		605433				11106728	Standard	NM_022113		Approved	bA500C11.2	uc003ncg.4	Q9H1H9	OTTHUMG00000014313	ENST00000259711.6:c.1436A>G	6.37:g.17828567T>C	ENSP00000259711:p.Asp479Gly					KIF13A_ENST00000259711.6_Missense_Mutation_p.D479G|KIF13A_ENST00000378816.5_Missense_Mutation_p.D479G|KIF13A_ENST00000378826.2_Missense_Mutation_p.D479G|KIF13A_ENST00000378843.2_Missense_Mutation_p.D479G	p.D479G	NM_001105568.2	NP_001099038.1	Q9H1H9	KI13A_HUMAN	all cancers(50;0.0865)|Epithelial(50;0.0974)		14	1435	-	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	479			FHA.		A0JP21|A0JP22|F2Z382|Q5THQ2|Q5THQ3|Q9H193|Q9H194|Q9H1H8	Missense_Mutation	SNP	ENST00000259711.6	37	c.1436A>G	CCDS47381.1	.	.	.	.	.	.	.	.	.	.	T	29.1	4.979922	0.92982	.	.	ENSG00000137177	ENST00000378814;ENST00000259711;ENST00000378826;ENST00000378843;ENST00000378816	D;D;D;D;D	0.90788	-2.73;-2.73;-2.73;-2.73;-2.73	6.04	6.04	0.98038	Forkhead-associated (FHA) domain (3);SMAD/FHA domain (1);	0.000000	0.85682	D	0.000000	D	0.95487	0.8534	M	0.87180	2.865	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;0.999;1.0;1.0	D;D;D;D;D	0.87578	0.996;0.972;0.971;0.997;0.998	D	0.96129	0.9091	10	0.87932	D	0	.	16.5885	0.84745	0.0:0.0:0.0:1.0	.	450;479;479;479;479	E7ER65;Q9H1H9-4;Q9H1H9-2;Q9H1H9;Q9H1H9-3	.;.;.;KI13A_HUMAN;.	G	479	ENSP00000368091:D479G;ENSP00000259711:D479G;ENSP00000368103:D479G;ENSP00000368120:D479G;ENSP00000368093:D479G	ENSP00000259711:D479G	D	-	2	0	KIF13A	17936546	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	8.040000	0.89188	2.317000	0.78254	0.460000	0.39030	GAT		0.403	KIF13A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000039954.4			10	9	0	0	0	1	0	10	9					C	17828567	T	C	17828567	3	2	143	1	0	0	0	0	1	0	0	0	8274	1435	50	4	4110	4	KIF13A	6	17828567	Missense_Mutation	SNP	T	TCGA-FC-A4JI-01A-11D-A257-08		17828567	153286500	17	7153											
AHI1	54806	broad.mit.edu	37	chr6	135787209	135787209	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcacttttctgatgatcaacGcctggctgtggctttgtatg	6	16	10	9	1	3	2	2	2	1	0	3	2	3	2	1	2	1	3	1	2	2	4			TCGA-FC-A4JI-01A-11D-A257-08	TCGA-FC-A4JI-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf6e6dd2-52d7-488b-8552-3e174d19744f	d4794705-4c1b-44dc-9a70-ee6671ee7c62	g.chr6:135787209G>A	ENST00000367800.4	-	5	708	c.492C>T	c.(490-492)ggC>ggT	p.G164G	AHI1_ENST00000327035.6_Silent_p.G164G|AHI1_ENST00000457866.2_Silent_p.G164G	NM_001134830.1	NP_001128302.1	Q8N157	AHI1_HUMAN	Abelson helper integration site 1	164	Interaction with HAP1.				cellular protein localization (GO:0034613)|central nervous system development (GO:0007417)|cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|cloaca development (GO:0035844)|heart looping (GO:0001947)|hindbrain development (GO:0030902)|Kupffer's vesicle development (GO:0070121)|left/right axis specification (GO:0070986)|morphogenesis of a polarized epithelium (GO:0001738)|negative regulation of apoptotic process (GO:0043066)|otic vesicle development (GO:0071599)|photoreceptor cell outer segment organization (GO:0035845)|positive regulation of polarized epithelial cell differentiation (GO:0030862)|positive regulation of receptor internalization (GO:0002092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|pronephric duct morphogenesis (GO:0039023)|pronephric nephron tubule morphogenesis (GO:0039008)|protein localization to organelle (GO:0033365)|regulation of behavior (GO:0050795)|retina layer formation (GO:0010842)|specification of axis polarity (GO:0065001)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vesicle targeting (GO:0006903)|vesicle-mediated transport (GO:0016192)	adherens junction (GO:0005912)|cell-cell junction (GO:0005911)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|nonmotile primary cilium (GO:0031513)|photoreceptor outer segment (GO:0001750)|primary cilium (GO:0072372)|TCTN-B9D complex (GO:0036038)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)	37	Breast(56;0.239)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00904)|OV - Ovarian serous cystadenocarcinoma(155;0.00991)		GATGATCAACGCCTGGCTGTG	0.443																																						ENST00000367800.4																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)	37						c.(490-492)ggC>ggT		Abelson helper integration site 1							246	218	227					6																	135787209		1942	4135	6077	SO:0001819	synonymous_variant	54806					adherens junction|cilium|microtubule basal body		g.chr6:135787209G>A	AJ459824	CCDS47483.1, CCDS47484.1	6q23.2	2013-01-10	2005-11-29		ENSG00000135541	ENSG00000135541		"WD repeat domain containing"	21575	protein-coding gene	gene with protein product	"Jouberin"	608894	"Abelson helper integration site"			15060101, 16240161	Standard	NM_017651		Approved	FLJ20069, ORF1, JBTS3	uc003qgj.3	Q8N157	OTTHUMG00000015631	ENST00000367800.4:c.492C>T	6.37:g.135787209G>A						AHI1_ENST00000327035.6_Silent_p.G164G|AHI1_ENST00000457866.2_Silent_p.G164G	p.G164G	NM_001134830.1	NP_001128302.1	Q8N157	AHI1_HUMAN		GBM - Glioblastoma multiforme(68;0.00904)|OV - Ovarian serous cystadenocarcinoma(155;0.00991)	5	708	-	Breast(56;0.239)|Colorectal(23;0.24)		164					E1P584|Q4FD35|Q504T3|Q5TCP9|Q6P098|Q6PIT6|Q8NDX0|Q9H0H2	Silent	SNP	ENST00000367800.4	37	c.492C>T	CCDS47483.1																																																																																				0.443	AHI1-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391948.1	NM_017651		19	43	0	0	0	1	0	19	43					A	135787209	G	A	135787209	2	1	143	1	0	0	0	0	0	0	0	1	413	1074	38	1		1	AHI1	6	135787209	Silent	SNP	G	TCGA-FC-A4JI-01A-11D-A257-08	117958642	135787209	35327858	18	7154											
KIAA0415	9907	broad.mit.edu	37	chr7	4824568	4824568	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cagagcaggagggctccactCtgtcggtgatctccgccacc	7	7	12	15	2	2	2	0	1	2	1	5	3	3	3	4	3	1	2	4	3	0	0			TCGA-FC-A4JI-01A-11D-A257-08	TCGA-FC-A4JI-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf6e6dd2-52d7-488b-8552-3e174d19744f	d4794705-4c1b-44dc-9a70-ee6671ee7c62	g.chr7:4824568C>G	ENST00000348624.4	+	7	914	c.820C>G	c.(820-822)Ctg>Gtg	p.L274V	AP5Z1_ENST00000401897.1_Missense_Mutation_p.L274V	NM_014855.2	NP_055670.1	O43299	AP5Z1_HUMAN	adaptor-related protein complex 5, zeta 1 subunit	274					cell death (GO:0008219)|double-strand break repair via homologous recombination (GO:0000724)|endosomal transport (GO:0016197)|protein transport (GO:0015031)	AP-5 adaptor complex (GO:0044599)|AP-type membrane coat adaptor complex (GO:0030119)|cytoplasm (GO:0005737)|nucleus (GO:0005634)											GGGCTCCACTCTGTCGGTGAT	0.677																																						ENST00000348624.4																			0											c.(820-822)Ctg>Gtg		adaptor-related protein complex 5, zeta 1 subunit							15	18	17					7																	4824568		2006	4155	6161	SO:0001583	missense	9907				cell death|double-strand break repair via homologous recombination	cytoplasm|nucleus	protein binding	g.chr7:4824568C>G	AB007875	CCDS47528.1	7p22.1	2012-03-20	2012-03-20	2012-03-20	ENSG00000242802	ENSG00000242802			22197	protein-coding gene	gene with protein product		613653	"KIAA0415"	KIAA0415		20613862, 22022230	Standard	NM_014855		Approved	SPG48, zeta	uc003sne.3	O43299	OTTHUMG00000151754	ENST00000348624.4:c.820C>G	7.37:g.4824568C>G	ENSP00000297562:p.Leu274Val					AP5Z1_ENST00000401897.1_Missense_Mutation_p.L274V	p.L274V	NM_014855.2	NP_055670.1	O43299	K0415_HUMAN			7	914	+			274					Q8N3X2|Q96H80	Missense_Mutation	SNP	ENST00000348624.4	37	c.820C>G	CCDS47528.1	.	.	.	.	.	.	.	.	.	.	C	0.006	-2.081094	0.00371	.	.	ENSG00000242802	ENST00000348624;ENST00000401897	T;T	0.40476	1.03;1.03	4.73	1.41	0.22369	.	0.646924	0.14615	N	0.308783	T	0.16428	0.0395	N	0.04686	-0.185	0.19945	N	0.999943	B	0.09022	0.002	B	0.09377	0.004	T	0.29822	-0.9999	10	0.05525	T	0.97	.	7.8031	0.29187	0.364:0.4192:0.2169:0.0	.	274	O43299	K0415_HUMAN	V	274	ENSP00000297562:L274V;ENSP00000384980:L274V	ENSP00000297562:L274V	L	+	1	2	KIAA0415	4791094	0.198000	0.23374	0.189000	0.23252	0.050000	0.14768	0.688000	0.25422	0.388000	0.25054	0.561000	0.74099	CTG		0.677	AP5Z1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323771.1			5	13	0	0	0	1	0	5	13					G	4824568	C	G	4824568	3	3	143	1	0	0	0	0	1	0	0	0	8175	912	32	5	846	5	KIAA0415	7	4824568	Missense_Mutation	SNP	C	TCGA-FC-A4JI-01A-11D-A257-08		4824568	154314095	19	7155											
ZNF716	441234	broad.mit.edu	37	chr7	57528490	57528490	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggcataaaagattcactccAaaaagtgatactgagaagat	18	8	9	6	0	1	4	1	2	0	3	2	5	2	4	1	1	1	1	1	1	6	3			TCGA-FC-A4JI-01A-11D-A257-08	TCGA-FC-A4JI-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf6e6dd2-52d7-488b-8552-3e174d19744f	d4794705-4c1b-44dc-9a70-ee6671ee7c62	g.chr7:57528490A>T	ENST00000420713.1	+	4	435	c.323A>T	c.(322-324)cAa>cTa	p.Q108L		NM_001159279.1	NP_001152751.1	A6NP11	ZN716_HUMAN	zinc finger protein 716	108					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|kidney(1)|lung(20)|ovary(2)	24						GATTCACTCCAAAAAGTGATA	0.383																																						ENST00000420713.1																			0				breast(1)|kidney(1)|lung(20)|ovary(2)	24						c.(322-324)cAa>cTa		zinc finger protein 716							111	108	109					7																	57528490		692	1591	2283	SO:0001583	missense	441234							g.chr7:57528490A>T	AK131575	CCDS55112.1	7p11.1	2013-01-08			ENSG00000182111	ENSG00000182111		"Zinc fingers, C2H2-type", "-"	32458	protein-coding gene	gene with protein product							Standard	NM_001159279		Approved	FLJ46189	uc011kdi.1	A6NP11	OTTHUMG00000156689	ENST00000420713.1:c.323A>T	7.37:g.57528490A>T	ENSP00000394248:p.Gln108Leu						p.Q108L	NM_001159279.1	NP_001152751.1					4	435	+									Missense_Mutation	SNP	ENST00000420713.1	37	c.323A>T	CCDS55112.1	.	.	.	.	.	.	.	.	.	.	A	11.38	1.620417	0.28801	.	.	ENSG00000182111	ENST00000420713;ENST00000418732	T	0.05717	3.4	0.195	0.195	0.15151	.	.	.	.	.	T	0.14830	0.0358	M	0.65320	2	0.22489	N	0.999053	D	0.60160	0.987	D	0.67725	0.953	T	0.15093	-1.0449	9	0.59425	D	0.04	.	2.6102	0.04889	0.5591:0.0:0.4409:0.0	.	96	A6NP11	ZN716_HUMAN	L	108;96	ENSP00000394248:Q108L	ENSP00000387687:Q96L	Q	+	2	0	ZNF716	57532432	0.003000	0.15002	0.083000	0.20561	0.083000	0.17756	1.687000	0.37680	0.257000	0.21650	0.254000	0.18369	CAA		0.383	ZNF716-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345309.1	NM_001159279		8	28	0	0	0	1	0	8	28					T	57528490	A	T	57528490	3	4	143	1	0	0	0	0	1	0	0	0	18116	130	5	5	337	5	ZNF716	7	57528490	Missense_Mutation	SNP	A	TCGA-FC-A4JI-01A-11D-A257-08	52703922	57528490	101610173	20	7156											
NUP205	23165	broad.mit.edu	37	chr7	135282771	135282771	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	actaaatgaaatagaatcccGgtgtgaagaatacccattga	17	9	8	7	1	0	5	0	3	0	2	1	5	1	5	2	1	1	0	2	1	8	4			TCGA-FC-A4JI-01A-11D-A257-08	TCGA-FC-A4JI-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf6e6dd2-52d7-488b-8552-3e174d19744f	d4794705-4c1b-44dc-9a70-ee6671ee7c62	g.chr7:135282771G>A	ENST00000285968.6	+	15	2116	c.2090G>A	c.(2089-2091)cGg>cAg	p.R697Q	NUP205_ENST00000440390.2_3'UTR	NM_015135.2	NP_055950	Q92621	NU205_HUMAN	nucleoporin 205kDa	697					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|nucleocytoplasmic transport (GO:0006913)|protein import into nucleus, docking (GO:0000059)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)	structural constituent of nuclear pore (GO:0017056)			breast(4)|central_nervous_system(2)|endometrium(9)|kidney(7)|large_intestine(17)|liver(4)|lung(36)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	93						ATAGAATCCCGGTGTGAAGAA	0.403																																						ENST00000285968.6																			0				breast(4)|central_nervous_system(2)|endometrium(9)|kidney(7)|large_intestine(17)|liver(4)|lung(36)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	93						c.(2089-2091)cGg>cAg		nucleoporin 205kDa							145	158	154					7																	135282771		2203	4300	6503	SO:0001583	missense	23165				carbohydrate metabolic process|glucose transport|mRNA transport|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding	g.chr7:135282771G>A	D86978	CCDS34759.1	7q31.32	2007-03-26	2004-01-06	2004-01-07	ENSG00000155561	ENSG00000155561			18658	protein-coding gene	gene with protein product		614352	"chromosome 7 open reading frame 14"	C7orf14		9039502, 9348540	Standard	NM_015135		Approved	KIAA0225	uc003vsw.3	Q92621	OTTHUMG00000155497	ENST00000285968.6:c.2090G>A	7.37:g.135282771G>A	ENSP00000285968:p.Arg697Gln					NUP205_ENST00000440390.2_3'UTR	p.R697Q	NM_015135.2	NP_055950.1	Q92621	NU205_HUMAN			15	2116	+			697					A6H8X3|Q86YC1	Missense_Mutation	SNP	ENST00000285968.6	37	c.2090G>A	CCDS34759.1	.	.	.	.	.	.	.	.	.	.	G	31	5.070255	0.93950	.	.	ENSG00000155561	ENST00000285968	T	0.33216	1.42	5.73	5.73	0.89815	.	0.043737	0.85682	D	0.000000	T	0.46795	0.1411	L	0.55103	1.725	0.80722	D	1	D	0.71674	0.998	P	0.59761	0.863	T	0.13308	-1.0514	10	0.13470	T	0.59	-22.7226	19.8824	0.96903	0.0:0.0:1.0:0.0	.	697	Q92621	NU205_HUMAN	Q	697	ENSP00000285968:R697Q	ENSP00000285968:R697Q	R	+	2	0	NUP205	134933311	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.819000	0.99357	2.696000	0.92011	0.591000	0.81541	CGG		0.403	NUP205-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340358.1			38	159	0	0	0	1	0	38	159					A	135282771	G	A	135282771	3	1	143	1	0	0	0	0	1	0	0	0	10759	1116	39	2	2148	2	NUP205	7	135282771	Missense_Mutation	SNP	G	TCGA-FC-A4JI-01A-11D-A257-08	77754281	135282771	23855892	21	7157											
STAU2	27067	broad.mit.edu	37	chr8	74601015	74601015	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgccttcggattcccatgTctgctcaccaagactcagct	7	11	8	15	1	3	1	2	0	1	1	5	2	4	2	3	1	3	3	3	1	1	2			TCGA-FC-A4JI-01A-11D-A257-08	TCGA-FC-A4JI-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf6e6dd2-52d7-488b-8552-3e174d19744f	d4794705-4c1b-44dc-9a70-ee6671ee7c62	g.chr8:74601015T>C	ENST00000521419.1	-	4	340	c.34A>G	c.(34-36)Aca>Gca	p.T12A	STAU2_ENST00000524300.1_Missense_Mutation_p.T50A|STAU2_ENST00000521727.1_Missense_Mutation_p.T30A|RP11-463D19.2_ENST00000358757.5_3'UTR|STAU2_ENST00000522509.1_Missense_Mutation_p.T18A|STAU2_ENST00000523558.1_Intron|STAU2_ENST00000521451.1_Intron|RP11-463D19.1_ENST00000533978.1_lincRNA|STAU2_ENST00000517542.1_Missense_Mutation_p.T12A|STAU2_ENST00000519961.1_Missense_Mutation_p.T50A|STAU2_ENST00000524104.1_Missense_Mutation_p.T18A|STAU2_ENST00000521210.1_Intron|STAU2_ENST00000355780.5_Missense_Mutation_p.T18A|STAU2_ENST00000522962.1_5'UTR|STAU2_ENST00000522695.1_Missense_Mutation_p.T18A			Q9NUL3	STAU2_HUMAN	staufen double-stranded RNA binding protein 2	50	DRBM 1. {ECO:0000255|PROSITE- ProRule:PRU00266}.				transport (GO:0006810)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|microtubule (GO:0005874)|nucleus (GO:0005634)	double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)	19	Breast(64;0.0138)		Epithelial(68;0.026)|BRCA - Breast invasive adenocarcinoma(89;0.0483)|all cancers(69;0.0972)			GATTCCCATGTCTGCTCACCA	0.418																																						ENST00000355780.5																			0				breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)	19						c.(52-54)Aca>Gca		staufen double-stranded RNA binding protein 2							152	144	147					8																	74601015		2203	4300	6503	SO:0001583	missense	27067				transport	endoplasmic reticulum|microtubule|nucleolus	double-stranded RNA binding	g.chr8:74601015T>C	Y19062	CCDS6214.1, CCDS55244.1, CCDS55245.1, CCDS55246.1, CCDS55247.1, CCDS55248.1	8q21.11	2013-06-05	2013-06-05		ENSG00000040341	ENSG00000040341			11371	protein-coding gene	gene with protein product		605920	"staufen (Drosophila, RNA-binding protein) homolog 2", "staufen, RNA binding protein, homolog 2 (Drosophila)"			10585778	Standard	NM_014393		Approved	39K2	uc003xzm.3	Q9NUL3	OTTHUMG00000164499	ENST00000521419.1:c.34A>G	8.37:g.74601015T>C	ENSP00000428681:p.Thr12Ala					RP11-463D19.1_ENST00000533978.1_lincRNA|STAU2_ENST00000521727.1_Missense_Mutation_p.T30A|STAU2_ENST00000523558.1_Intron|RP11-463D19.2_ENST00000358757.5_3'UTR|STAU2_ENST00000521419.1_Missense_Mutation_p.T12A|STAU2_ENST00000517542.1_Missense_Mutation_p.T12A|STAU2_ENST00000524300.1_Missense_Mutation_p.T50A|STAU2_ENST00000521451.1_Intron|STAU2_ENST00000524104.1_Missense_Mutation_p.T18A|STAU2_ENST00000522695.1_Missense_Mutation_p.T18A|STAU2_ENST00000519961.1_Missense_Mutation_p.T50A|STAU2_ENST00000522509.1_Missense_Mutation_p.T18A|STAU2_ENST00000521210.1_Intron|STAU2_ENST00000522962.1_5'UTR	p.T18A	NM_014393.2	NP_055208.2	Q9NUL3	STAU2_HUMAN	Epithelial(68;0.026)|BRCA - Breast invasive adenocarcinoma(89;0.0483)|all cancers(69;0.0972)		4	270	-	Breast(64;0.0138)		50			DRBM 1.		B7Z1I6|B7Z292|B7Z8B4|E7ER74|E9PEI3|E9PF26|E9PF50|Q6AHY7|Q96HM0|Q96HM1|Q9NVI5|Q9UGG6	Missense_Mutation	SNP	ENST00000521419.1	37	c.52A>G		.	.	.	.	.	.	.	.	.	.	T	11.51	1.661445	0.29515	.	.	ENSG00000040341	ENST00000522695;ENST00000524300;ENST00000355780;ENST00000519961;ENST00000521727;ENST00000522509;ENST00000517542;ENST00000521447;ENST00000524104;ENST00000521419;ENST00000521736	T;T;T;T;T;T;T;T	0.77229	1.55;-1.08;1.56;-1.08;1.56;1.56;1.56;0.97	5.73	3.21	0.36854	.	0.219182	0.48286	N	0.000200	T	0.62708	0.2450	L	0.35542	1.07	0.41995	D	0.990866	B;B;B;B;B;B;B	0.28850	0.144;0.144;0.004;0.225;0.001;0.004;0.034	B;B;B;B;B;B;B	0.29440	0.035;0.035;0.009;0.078;0.004;0.003;0.102	T	0.53795	-0.8388	10	0.15066	T	0.55	-17.456	8.3042	0.32032	0.0:0.0691:0.1336:0.7974	.	30;18;12;18;50;18;50	E7EPX0;A8K276;E5RGT3;F8VPI7;E7EVJ4;E9PH62;E9PF26	.;.;.;.;.;.;.	A	18;50;18;50;30;18;12;18;18;12;18	ENSP00000428456:T18A;ENSP00000428756:T50A;ENSP00000348026:T18A;ENSP00000430907:T50A;ENSP00000429973:T30A;ENSP00000427977:T18A;ENSP00000431111:T12A;ENSP00000428829:T18A	ENSP00000348026:T18A	T	-	1	0	STAU2	74763569	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.381000	0.34362	1.120000	0.41904	0.524000	0.50904	ACA		0.418	STAU2-013	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000379012.2	NM_001164380		52	174	0	0	0	1	0	52	174					C	74601015	T	C	74601015	3	2	143	1	0	0	0	0	1	0	0	0	15272	1667	58	4	1732	4	STAU2	8	74601015	Missense_Mutation	SNP	T	TCGA-FC-A4JI-01A-11D-A257-08		74601015	71763007	22	7158											
ST3GAL1	6482	broad.mit.edu	37	chr8	134488066	134488066	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaaccaggccgagagcttgcGctgcccgatgcagtgggtgc	7	6	16	12	3	0	1	0	0	0	1	0	4	0	1	3	2	6	3	3	2	1	1			TCGA-FC-A4JI-01A-11D-A257-08	TCGA-FC-A4JI-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf6e6dd2-52d7-488b-8552-3e174d19744f	d4794705-4c1b-44dc-9a70-ee6671ee7c62	g.chr8:134488066G>A	ENST00000319914.5	-	4	1229	c.202C>T	c.(202-204)Cgc>Tgc	p.R68C	ST3GAL1_ENST00000522652.1_Missense_Mutation_p.R68C|ST3GAL1_ENST00000519435.1_5'Flank|ST3GAL1_ENST00000399640.2_Missense_Mutation_p.R68C|ST3GAL1_ENST00000521180.1_Missense_Mutation_p.R68C			Q11201	SIA4A_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase 1	68					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|cellular protein modification process (GO:0006464)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|N-acetylneuraminate metabolic process (GO:0006054)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation (GO:0006487)|protein phosphorylation (GO:0006468)|sialylation (GO:0097503)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)|membrane (GO:0016020)	beta-galactoside (CMP) alpha-2,3-sialyltransferase activity (GO:0003836)			endometrium(3)|large_intestine(2)|lung(11)|prostate(1)	17	all_epithelial(106;1.53e-23)|Lung NSC(106;3.15e-07)|all_lung(105;1.26e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.00721)			GAGAGCTTGCGCTGCCCGATG	0.612																																						ENST00000319914.5																			0				endometrium(3)|large_intestine(2)|lung(11)|prostate(1)	17						c.(202-204)Cgc>Tgc		ST3 beta-galactoside alpha-2,3-sialyltransferase 1							80	61	67					8																	134488066		2203	4300	6503	SO:0001583	missense	6482				protein glycosylation	extracellular region|Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,3-sialyltransferase activity	g.chr8:134488066G>A	L29555	CCDS6373.1	8q24.22	2013-03-01	2003-01-14	2005-02-07	ENSG00000008513	ENSG00000008513	2.4.99.4	"Sialyltransferases"	10862	protein-coding gene	gene with protein product	"ST3Gal I"	607187	"sialyltransferase 4A (beta-galactosidase alpha-2,3-sialytransferase)"	SIAT4A		10504389, 7655169	Standard	NM_003033		Approved	ST3O, SIATFL, ST3GalA.1	uc003yuk.2	Q11201	OTTHUMG00000164534	ENST00000319914.5:c.202C>T	8.37:g.134488066G>A	ENSP00000318445:p.Arg68Cys					ST3GAL1_ENST00000399640.2_Missense_Mutation_p.R68C|ST3GAL1_ENST00000521180.1_Missense_Mutation_p.R68C|ST3GAL1_ENST00000522652.1_Missense_Mutation_p.R68C	p.R68C			Q11201	SIA4A_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.00721)		4	1229	-	all_epithelial(106;1.53e-23)|Lung NSC(106;3.15e-07)|all_lung(105;1.26e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)		68					O60677|Q9UN51	Missense_Mutation	SNP	ENST00000319914.5	37	c.202C>T	CCDS6373.1	.	.	.	.	.	.	.	.	.	.	G	10.11	1.259953	0.23051	.	.	ENSG00000008513	ENST00000319914;ENST00000399640;ENST00000521180;ENST00000522652;ENST00000523634	T;T;T;T	0.18657	2.2;2.2;2.2;2.2	5.55	3.52	0.40303	.	1.119980	0.06488	N	0.734078	T	0.15565	0.0375	N	0.08118	0	0.23325	N	0.997901	P	0.44659	0.84	B	0.42522	0.39	T	0.36866	-0.9730	10	0.54805	T	0.06	-16.4776	12.5723	0.56344	0.0:0.1221:0.7442:0.1337	.	68	Q11201	SIA4A_HUMAN	C	68	ENSP00000318445:R68C;ENSP00000414073:R68C;ENSP00000428540:R68C;ENSP00000430515:R68C	ENSP00000318445:R68C	R	-	1	0	ST3GAL1	134557248	0.833000	0.29383	0.058000	0.19502	0.082000	0.17680	1.527000	0.35975	1.320000	0.45209	0.561000	0.74099	CGC		0.612	ST3GAL1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379132.1	NM_003033		18	85	0	0	0	1	0	18	85					A	134488066	G	A	134488066	3	1	143	1	0	0	0	0	1	0	0	0	15213	1087	38	1	844	1	ST3GAL1	8	134488066	Missense_Mutation	SNP	G	TCGA-FC-A4JI-01A-11D-A257-08	59887051	134488066	11875956	23	7159											
FAM196A	642938	broad.mit.edu	37	chr10	128973673	128973673	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctaggctggttccccagcccCggcggggtgtgagtctgcga	4	8	16	13	3	1	1	0	1	1	0	2	2	2	1	4	5	2	2	4	5	1	2	rs527749367		TCGA-FC-A4JI-01A-11D-A257-08	TCGA-FC-A4JI-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf6e6dd2-52d7-488b-8552-3e174d19744f	d4794705-4c1b-44dc-9a70-ee6671ee7c62	g.chr10:128973673C>T	ENST00000522781.1	-	4	1542	c.987G>A	c.(985-987)ccG>ccA	p.P329P	DOCK1_ENST00000280333.6_Intron|FAM196A_ENST00000424811.2_Silent_p.P329P	NM_001039762.2	NP_001034851.1	Q6ZSG2	F196A_HUMAN	family with sequence similarity 196, member A	329										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						TCCCCAGCCCCGGCGGGGTGT	0.632													C|||	1	0.000199681	0	0	5008	,	,		17434	0		0	False		,,,				2504	0.001					ENST00000522781.1																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						c.(985-987)ccG>ccA		family with sequence similarity 196, member A							82	89	87					10																	128973673		2203	4300	6503	SO:0001819	synonymous_variant	642938							g.chr10:128973673C>T		CCDS31312.1	10q26.2	2009-09-11	2009-09-11	2009-09-11		ENSG00000188916			33859	protein-coding gene	gene with protein product			"chromosome 10 open reading frame 141"	C10orf141			Standard	NM_001039762		Approved	FLJ45557	uc001ljv.1	Q6ZSG2		ENST00000522781.1:c.987G>A	10.37:g.128973673C>T						FAM196A_ENST00000424811.2_Silent_p.P329P|DOCK1_ENST00000280333.6_Intron	p.P329P	NM_001039762.2	NP_001034851.1	Q6ZSG2	F196A_HUMAN			4	1542	-			329					B2RNT4|B7ZME7	Silent	SNP	ENST00000522781.1	37	c.987G>A	CCDS31312.1																																																																																				0.632	FAM196A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050978.2	NM_001039762		55	67	0	0	0	1	0	55	67					T	128973673	C	T	128973673	2	4	143	1	0	0	0	0	0	0	0	1	5528	639	23	2		2	FAM196A	10	128973673	Silent	SNP	C	TCGA-FC-A4JI-01A-11D-A257-08		128973673	6561074	24	7160											
ROBO3	64221	broad.mit.edu	37	chr11	124742974	124742974	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaacggtaccctgtacatcGccaatgtgcaggtgagtgtc	9	9	11	12	2	0	1	0	1	0	0	2	1	0	1	3	2	4	3	3	2	4	2	rs529624379		TCGA-FC-A4JI-01A-11D-A257-08	TCGA-FC-A4JI-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf6e6dd2-52d7-488b-8552-3e174d19744f	d4794705-4c1b-44dc-9a70-ee6671ee7c62	g.chr11:124742974G>A	ENST00000397801.1	+	9	1717	c.1525G>A	c.(1525-1527)Gcc>Acc	p.A509T	ROBO3_ENST00000538940.1_Missense_Mutation_p.A487T	NM_022370.3	NP_071765.2	Q96MS0	ROBO3_HUMAN	roundabout, axon guidance receptor, homolog 3 (Drosophila)	509	Ig-like C2-type 5.				axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|neuron migration (GO:0001764)	axon (GO:0030424)|integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	35	all_hematologic(175;0.215)	Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|Breast(109;0.0481)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0296)		CCTGTACATCGCCAATGTGCA	0.562													G|||	1	0.000199681	0	0.0014	5008	,	,		20369	0		0	False		,,,				2504	0					ENST00000397801.1																			0				breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	35						c.(1525-1527)Gcc>Acc		roundabout, axon guidance receptor, homolog 3 (Drosophila)							68	73	72					11																	124742974		2077	4207	6284	SO:0001583	missense	64221				axon midline choice point recognition	integral to membrane	receptor activity	g.chr11:124742974G>A	AK024697	CCDS44755.1	11q24	2013-02-11	2001-11-28		ENSG00000154134	ENSG00000154134		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	13433	protein-coding gene	gene with protein product		608630	"roundabout (axon guidance receptor, Drosophila) homolog 3", "horizontal gaze palsy with progressive scoliosis"	HGPPS		15105459	Standard	NM_022370		Approved	RBIG1, FLJ21044, HGPS	uc001qbc.3	Q96MS0	OTTHUMG00000165934	ENST00000397801.1:c.1525G>A	11.37:g.124742974G>A	ENSP00000380903:p.Ala509Thr					ROBO3_ENST00000538940.1_Missense_Mutation_p.A487T	p.A509T	NM_022370.3	NP_071765.2	Q96MS0	ROBO3_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0296)	9	1717	+	all_hematologic(175;0.215)	Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|Breast(109;0.0481)|all_neural(223;0.112)	509			Ig-like C2-type 5.			Missense_Mutation	SNP	ENST00000397801.1	37	c.1525G>A	CCDS44755.1	.	.	.	.	.	.	.	.	.	.	G	0.040	-1.288368	0.01387	.	.	ENSG00000154134	ENST00000397801;ENST00000538940	T;T	0.66815	-0.23;-0.23	4.39	0.075	0.14397	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.389904	0.18716	N	0.133155	T	0.41166	0.1147	N	0.14661	0.345	0.19775	N	0.999951	B	0.16396	0.017	B	0.06405	0.002	T	0.17258	-1.0375	10	0.20046	T	0.44	.	6.9632	0.24610	0.6565:0.0:0.3435:0.0	.	509	Q96MS0	ROBO3_HUMAN	T	509;487	ENSP00000380903:A509T;ENSP00000441797:A487T	ENSP00000380903:A509T	A	+	1	0	ROBO3	124248184	0.015000	0.18098	0.034000	0.17996	0.222000	0.24845	1.127000	0.31357	0.142000	0.18901	-0.379000	0.06801	GCC		0.562	ROBO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387091.1	XM_370663		6	27	0	0	0	1	0	6	27					A	124742974	G	A	124742974	3	1	143	1	0	0	0	0	1	0	0	0	13515	1087	38	1	1559	1	ROBO3	11	124742974	Missense_Mutation	SNP	G	TCGA-FC-A4JI-01A-11D-A257-08		124742974	10263542	25	7161											
RAD52	5893	broad.mit.edu	37	chr12	1025570	1025570	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgcttctccatccgctcccGgaactgctgctgcagctgct	4	11	9	17	2	1	0	0	0	1	0	4	1	3	1	3	1	7	7	3	1	1	1			TCGA-FC-A4JI-01A-11D-A257-08	TCGA-FC-A4JI-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf6e6dd2-52d7-488b-8552-3e174d19744f	d4794705-4c1b-44dc-9a70-ee6671ee7c62	g.chr12:1025570G>A	ENST00000358495.3	-	9	943	c.805C>T	c.(805-807)Cgg>Tgg	p.R269W	RAD52_ENST00000535376.1_5'UTR|RAD52_ENST00000536177.1_Missense_Mutation_p.P286L|RAD52_ENST00000539046.1_Missense_Mutation_p.R192W|RAD52_ENST00000430095.2_Missense_Mutation_p.R269W	NM_134424.2	NP_602296.2	P43351	RAD52_HUMAN	RAD52 homolog (S. cerevisiae)	269	Mediates interaction with RPA2.				DNA recombinase assembly (GO:0000730)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)			central_nervous_system(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	19	all_cancers(10;0.0119)|all_epithelial(11;0.0171)|all_lung(10;0.0521)|Ovarian(42;0.0816)|Lung NSC(10;0.0987)		OV - Ovarian serous cystadenocarcinoma(31;0.00123)|BRCA - Breast invasive adenocarcinoma(9;0.0323)			atccgctcccggaactgctgc	0.677								Homologous recombination																														ENST00000358495.3																			0				central_nervous_system(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	19						c.(805-807)Cgg>Tgg	Homologous recombination	RAD52 homolog (S. cerevisiae)							16	21	19					12																	1025570		2148	4266	6414	SO:0001583	missense	5893				DNA recombinase assembly|mitotic recombination|reciprocal meiotic recombination	nucleoplasm	DNA binding|protein binding	g.chr12:1025570G>A		CCDS8507.2	12p13-p12.2	2008-08-05	2001-11-28		ENSG00000002016	ENSG00000002016			9824	protein-coding gene	gene with protein product		600392	"RAD52 (S. cerevisiae) homolog"			7774919, 18313388	Standard	XM_005253721		Approved		uc001qis.1	P43351	OTTHUMG00000090361	ENST00000358495.3:c.805C>T	12.37:g.1025570G>A	ENSP00000351284:p.Arg269Trp					RAD52_ENST00000535376.1_5'UTR|RAD52_ENST00000539046.1_Missense_Mutation_p.R192W|RAD52_ENST00000430095.2_Missense_Mutation_p.R269W|RAD52_ENST00000536177.1_Missense_Mutation_p.P286L	p.R269W	NM_134424.2	NP_602296.2	P43351	RAD52_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00123)|BRCA - Breast invasive adenocarcinoma(9;0.0323)		9	943	-	all_cancers(10;0.0119)|all_epithelial(11;0.0171)|all_lung(10;0.0521)|Ovarian(42;0.0816)|Lung NSC(10;0.0987)		269					Q13205|Q9Y5T7|Q9Y5T8|Q9Y5T9	Missense_Mutation	SNP	ENST00000358495.3	37	c.805C>T	CCDS8507.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.58|15.58	2.875350|2.875350	0.51695|0.51695	.|.	.|.	ENSG00000002016|ENSG00000002016	ENST00000536177|ENST00000358495;ENST00000430095;ENST00000539046	T|T;T;T	0.46063|0.44482	0.88|1.33;1.33;0.92	4.97|4.97	4.08|4.08	0.47627|0.47627	.|.	.|0.239981	.|0.40818	.|N	.|0.001003	T|T	0.37705|0.37705	0.1013|0.1013	M|M	0.64404|0.64404	1.975|1.975	0.80722|0.80722	D|D	1|1	B|B	0.31640|0.30114	0.333|0.269	B|B	0.22880|0.22152	0.042|0.038	T|T	0.31806|0.31806	-0.9930|-0.9930	9|10	0.87932|0.48119	D|T	0|0.1	-20.9833|-20.9833	10.9711|10.9711	0.47441|0.47441	0.0876:0.0:0.9124:0.0|0.0876:0.0:0.9124:0.0	.|.	286|269	F5GX32|P43351	.|RAD52_HUMAN	L|W	286|269;269;192	ENSP00000440486:P286L|ENSP00000351284:R269W;ENSP00000387901:R269W;ENSP00000445245:R192W	ENSP00000440486:P286L|ENSP00000351284:R269W	P|R	-|-	2|1	0|2	RAD52|RAD52	895831|895831	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.987000|0.987000	0.75469|0.75469	4.810000|4.810000	0.62598|0.62598	1.469000|1.469000	0.48083|0.48083	0.561000|0.561000	0.74099|0.74099	CCG|CGG		0.677	RAD52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206733.2	NM_134424		3	21	0	0	0	1	0	3	21					A	1025570	G	A	1025570	3	1	143	1	0	0	0	0	1	0	0	0	12991	1115	39	2	467	2	RAD52	12	1025570	Missense_Mutation	SNP	G	TCGA-FC-A4JI-01A-11D-A257-08		1025570	132826325	26	7162											
LASS5	91012	broad.mit.edu	37	chr12	50536935	50536935	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accagcattggatttttcggAcattccaatccagctgcttt	9	14	7	11	1	0	0	0	0	0	0	3	2	2	2	3	2	3	3	3	2	1	5			TCGA-FC-A4JI-01A-11D-A257-08	TCGA-FC-A4JI-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf6e6dd2-52d7-488b-8552-3e174d19744f	d4794705-4c1b-44dc-9a70-ee6671ee7c62	g.chr12:50536935A>G	ENST00000317551.6	-	3	480	c.356T>C	c.(355-357)gTc>gCc	p.V119A	CERS5_ENST00000422340.2_Missense_Mutation_p.V61A	NM_147190.2	NP_671723.1	Q8N5B7	CERS5_HUMAN	ceramide synthase 5	119					ceramide biosynthetic process (GO:0046513)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sphingosine N-acyltransferase activity (GO:0050291)										GATTTTTCGGACATTCCAATC	0.493																																						ENST00000317551.6																			0											c.(355-357)gTc>gCc		ceramide synthase 5							172	177	175					12																	50536935		2203	4300	6503	SO:0001583	missense	91012				ceramide biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|nuclear membrane	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sphingosine N-acyltransferase activity	g.chr12:50536935A>G		CCDS8801.1, CCDS61120.1	12q13.12	2014-09-04	2011-07-08	2011-07-08	ENSG00000139624			"Homeoboxes / CERS class"	23749	protein-coding gene	gene with protein product		615335	"LAG1 longevity assurance homolog 5 (S. cerevisiae)", "LAG1 homolog, ceramide synthase 5"	LASS5			Standard	NM_147190		Approved	Trh4, MGC45411, FLJ25304	uc001rwd.4	Q8N5B7	OTTHUMG00000169819	ENST00000317551.6:c.356T>C	12.37:g.50536935A>G	ENSP00000325485:p.Val119Ala					CERS5_ENST00000422340.2_Missense_Mutation_p.V61A	p.V119A	NM_147190.2	NP_671723.1	Q8N5B7	CERS5_HUMAN			3	480	-			119					B4DV54	Missense_Mutation	SNP	ENST00000317551.6	37	c.356T>C	CCDS8801.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	11.96|11.96	1.794095|1.794095	0.31777|0.31777	.|.	.|.	ENSG00000139624|ENSG00000139624	ENST00000547800|ENST00000551005;ENST00000317551;ENST00000422340	.|D;D;D	.|0.96041	.|-3.89;-3.89;-3.89	4.52|4.52	4.52|4.52	0.55395|0.55395	.|Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	.|0.126562	.|0.52532	.|D	.|0.000065	D|D	0.92522|0.92522	0.7625|0.7625	M|M	0.65498|0.65498	2.005|2.005	0.46203|0.46203	D|D	0.998927|0.998927	.|B;B;B	.|0.18741	.|0.012;0.002;0.03	.|B;B;B	.|0.22880	.|0.042;0.014;0.03	D|D	0.86605|0.86605	0.1869|0.1869	6|10	0.38643|0.10377	T|T	0.18|0.69	-8.2376|-8.2376	8.9459|8.9459	0.35758|0.35758	0.9161:0.0:0.0839:0.0|0.9161:0.0:0.0839:0.0	.|.	.|61;119;38	.|B4DV54;Q8N5B7;F8W0U5	.|.;CERS5_HUMAN;.	P|A	54|38;119;61	.|ENSP00000447556:V38A;ENSP00000325485:V119A;ENSP00000389050:V61A	ENSP00000407896:S84P|ENSP00000325485:V119A	S|V	-|-	1|2	0|0	CERS5|CERS5	48823202|48823202	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.990000|0.990000	0.78478|0.78478	7.352000|7.352000	0.79404|0.79404	2.033000|2.033000	0.60031|0.60031	0.528000|0.528000	0.53228|0.53228	TCC|GTC		0.493	CERS5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000406069.3	NM_147190		83	136	0	0	0	1	0	83	136					G	50536935	A	G	50536935	3	3	143	1	0	0	0	0	1	0	0	0	8642	275	10	4	854	4	LASS5	12	50536935	Missense_Mutation	SNP	A	TCGA-FC-A4JI-01A-11D-A257-08	49511365	50536935	83314960	27	7163											
CENPJ	55835	broad.mit.edu	37	chr13	25480341	25480341	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgacaggggtggaagacatcCggtgacctttgcagatctgt	9	10	14	8	1	1	4	0	2	1	2	2	5	2	5	2	4	1	1	2	4	1	1	rs141856342	byFrequency	TCGA-FC-A4JI-01A-11D-A257-08	TCGA-FC-A4JI-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf6e6dd2-52d7-488b-8552-3e174d19744f	d4794705-4c1b-44dc-9a70-ee6671ee7c62	g.chr13:25480341C>T	ENST00000381884.4	-	7	2020	c.1835G>A	c.(1834-1836)cGg>cAg	p.R612Q	CENPJ_ENST00000545981.1_Missense_Mutation_p.R612Q	NM_018451.4	NP_060921.3	Q9HC77	CENPJ_HUMAN	centromere protein J	612					cell division (GO:0051301)|centriole replication (GO:0007099)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|microtubule polymerization (GO:0046785)|mitotic cell cycle (GO:0000278)|regulation of centriole replication (GO:0046599)	centriole (GO:0005814)|centrosome (GO:0005813)|cytosol (GO:0005829)|gamma-tubulin small complex (GO:0008275)|microtubule (GO:0005874)	protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)|tubulin binding (GO:0015631)			endometrium(5)|kidney(4)|large_intestine(14)|lung(13)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.00793)|Epithelial(112;0.0411)|OV - Ovarian serous cystadenocarcinoma(117;0.139)		GGAAGACATCCGGTGACCTTT	0.428																																						ENST00000381884.4																			0				endometrium(5)|kidney(4)|large_intestine(14)|lung(13)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						c.(1834-1836)cGg>cAg		centromere protein J		C	GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	89	88	88		1835	3.4	1	13	dbSNP_134	88	1,8599	1.2+/-3.3	0,1,4299	yes	missense	CENPJ	NM_018451.3	43	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	benign	612/1339	25480341	2,13004	2203	4300	6503	SO:0001583	missense	55835				cell division|centriole replication|G2/M transition of mitotic cell cycle|microtubule nucleation|microtubule polymerization	centriole|cytosol|gamma-tubulin small complex|microtubule	protein domain specific binding|tubulin binding	g.chr13:25480341C>T	AF139625	CCDS9310.1	13q12.12	2013-11-05			ENSG00000151849	ENSG00000151849			17272	protein-coding gene	gene with protein product	"centrosomal P4.1-associated protein"	609279	"microcephaly, primary autosomal recessive 6"	MCPH6		11003675, 22699936	Standard	NM_018451		Approved	CPAP, BM032, LAP, LIP1, Sas-4, SASS4, SCKL4	uc001upt.5	Q9HC77	OTTHUMG00000016595	ENST00000381884.4:c.1835G>A	13.37:g.25480341C>T	ENSP00000371308:p.Arg612Gln					CENPJ_ENST00000545981.1_Missense_Mutation_p.R612Q	p.R612Q	NM_018451.4	NP_060921.3	Q9HC77	CENPJ_HUMAN		all cancers(112;0.00793)|Epithelial(112;0.0411)|OV - Ovarian serous cystadenocarcinoma(117;0.139)	7	2020	-		Lung SC(185;0.0225)|Breast(139;0.0602)	612					Q2KHM6|Q5JPD5|Q5T6R5|Q96KS5|Q9C067	Missense_Mutation	SNP	ENST00000381884.4	37	c.1835G>A	CCDS9310.1	.	.	.	.	.	.	.	.	.	.	C	14.55	2.568688	0.45798	2.27E-4	1.16E-4	ENSG00000151849	ENST00000381884;ENST00000545981;ENST00000445729	T;T	0.72051	-0.62;-0.1	6.02	3.37	0.38596	.	0.125660	0.49916	N	0.000136	T	0.56077	0.1961	L	0.50333	1.59	0.33022	D	0.529028	P	0.43519	0.809	B	0.27608	0.081	T	0.66874	-0.5813	10	0.42905	T	0.14	.	11.1934	0.48698	0.0:0.7935:0.0:0.2065	.	612	Q9HC77	CENPJ_HUMAN	Q	612	ENSP00000371308:R612Q;ENSP00000441090:R612Q	ENSP00000371308:R612Q	R	-	2	0	CENPJ	24378341	0.992000	0.36948	0.978000	0.43139	0.785000	0.44390	1.713000	0.37951	0.885000	0.36088	-0.142000	0.14014	CGG		0.428	CENPJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044209.1	NM_018451		9	31	0	0	0	1	0	9	31					T	25480341	C	T	25480341	3	4	143	1	0	0	0	0	1	0	0	0	3234	652	23	2	2225	2	CENPJ	13	25480341	Missense_Mutation	SNP	C	TCGA-FC-A4JI-01A-11D-A257-08		25480341	89689537	28	7164											
KBTBD7	84078	broad.mit.edu	37	chr13	41767137	41767137	+	Frame_Shift_Del	DEL	T	T	-																															tcacgacacagcaagcgatcTgcaagttgctgccaactatt																										TCGA-FC-A4JI-01A-11D-A257-08	TCGA-FC-A4JI-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf6e6dd2-52d7-488b-8552-3e174d19744f	d4794705-4c1b-44dc-9a70-ee6671ee7c62	g.chr13:41767137delT	ENST00000379483.3	-	1	1565	c.1257delA	c.(1255-1257)gcafs	p.A419fs		NM_032138.4	NP_115514.2	Q8WVZ9	KBTB7_HUMAN	kelch repeat and BTB (POZ) domain containing 7	419										central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(8)|ovary(4)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24		Lung NSC(96;0.000105)|Breast(139;0.00715)|Prostate(109;0.0233)|Lung SC(185;0.0367)		all cancers(112;6.21e-09)|Epithelial(112;6.99e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000196)|GBM - Glioblastoma multiforme(144;0.000857)|BRCA - Breast invasive adenocarcinoma(63;0.0669)		GCAAGCGATCTGCAAGTTGCT	0.498																																						ENST00000379483.3																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(8)|ovary(4)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24						c.(1255-1257)gcfs		kelch repeat and BTB (POZ) domain containing 7							115	106	109					13																	41767137		2203	4297	6500	SO:0001589	frameshift_variant	84078						protein binding	g.chr13:41767137delT	AL136782	CCDS9377.1	13q13.3	2013-01-08			ENSG00000120696	ENSG00000120696		"BTB/POZ domain containing"	25266	protein-coding gene	gene with protein product						11230166	Standard	NM_032138		Approved	DKFZP434E2318	uc001uxw.1	Q8WVZ9	OTTHUMG00000016789	ENST00000379483.3:c.1257delA	13.37:g.41767137delT	ENSP00000368797:p.Ala419fs						p.A419fs	NM_032138.4	NP_115514.2	Q8WVZ9	KBTB7_HUMAN		all cancers(112;6.21e-09)|Epithelial(112;6.99e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000196)|GBM - Glioblastoma multiforme(144;0.000857)|BRCA - Breast invasive adenocarcinoma(63;0.0669)	1	1565	-		Lung NSC(96;0.000105)|Breast(139;0.00715)|Prostate(109;0.0233)|Lung SC(185;0.0367)	419					B5TZ86|Q5T6Y7|Q8NB99|Q9H0I6	Frame_Shift_Del	DEL	ENST00000379483.3	37	c.1257delA	CCDS9377.1																																																																																				0.498	KBTBD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044660.1	NM_032138		20	83						20	83	---	---	---	---	-	41767137	T	-	41767137	7	5	143	1	0	1	0	1	0	0	0	0	7998	1567	55	0	801	0	KBTBD7	13	41767137	Frame_Shift_Del	DEL	T	TCGA-FC-A4JI-01A-11D-A257-08	16286796	41767137	73402741	29	7165											
MYCBP2	23077	broad.mit.edu	37	chr13	77853046	77853046	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acaaaggccaacctcaataaTctatttaaaaggaaaaaata	22	8	4	7	0	2	0	1	0	1	0	2	1	2	1	2	2	1	0	2	2	11	5			TCGA-FC-A4JI-01A-11D-A257-08	TCGA-FC-A4JI-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf6e6dd2-52d7-488b-8552-3e174d19744f	d4794705-4c1b-44dc-9a70-ee6671ee7c62	g.chr13:77853046T>C	ENST00000544440.2	-	4	498	c.481A>G	c.(481-483)Att>Gtt	p.I161V	MYCBP2_ENST00000357337.6_Splice_Site_p.I161V|MYCBP2_ENST00000407578.2_Splice_Site_p.I199V|MYCBP2_ENST00000360084.5_5'UTR					MYC binding protein 2, E3 ubiquitin protein ligase											NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		ACCTCAATAATCTATTTAAAA	0.358																																						ENST00000407578.2																			0				NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118						c.e4-1		MYC binding protein 2, E3 ubiquitin protein ligase							29	32	31					13																	77853046		2203	4299	6502	SO:0001630	splice_region_variant	23077				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding	g.chr13:77853046T>C	AB020723		13q22	2012-02-23	2012-02-23		ENSG00000005810	ENSG00000005810			23386	protein-coding gene	gene with protein product		610392	"MYC binding protein 2"			9689053, 15057823	Standard	NM_015057		Approved	PAM, KIAA0916, FLJ10106	uc021rks.1	O75592	OTTHUMG00000017105	ENST00000544440.2:c.481-1A>G	13.37:g.77853046T>C						MYCBP2_ENST00000360084.5_5'UTR|MYCBP2_ENST00000544440.2_Splice_Site_p.I161_splice|MYCBP2_ENST00000357337.6_Splice_Site_p.I161_splice	p.I199_splice	NM_015057.4	NP_055872.4	O75592	MYCB2_HUMAN		GBM - Glioblastoma multiforme(99;0.109)	4	861	-		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)	161						Splice_Site	SNP	ENST00000544440.2	37	c.594_splice		.	.	.	.	.	.	.	.	.	.	T	13.92	2.382043	0.42207	.	.	ENSG00000005810	ENST00000357337;ENST00000407578;ENST00000544440	T;T;T	0.30714	1.53;1.52;1.53	5.74	5.74	0.90152	.	0.000000	0.85682	D	0.000000	T	0.33847	0.0877	N	0.21617	0.685	0.58432	D	0.999999	P	0.35745	0.518	P	0.47827	0.558	T	0.11470	-1.0586	10	0.32370	T	0.25	.	16.0351	0.80621	0.0:0.0:0.0:1.0	.	161	O75592	MYCB2_HUMAN	V	161;199;161	ENSP00000349892:I161V;ENSP00000384288:I199V;ENSP00000444596:I161V	ENSP00000349892:I161V	I	-	1	0	MYCBP2	76751047	1.000000	0.71417	1.000000	0.80357	0.856000	0.48823	8.040000	0.89188	2.186000	0.69663	0.533000	0.62120	ATT		0.358	MYCBP2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000045326.1	NM_015057	Missense_Mutation	10	25	0	0	0	1	0	10	25					C	77853046	T	C	77853046	5	2	143	1	0	0	0	0	0	0	1	0	10018	1449	50	4	13761	4	MYCBP2	13	77853046	Splice_Site	SNP	T	TCGA-FC-A4JI-01A-11D-A257-08	36085909	77853046	37316832	30	7166											
C14orf21	161424	broad.mit.edu	37	chr14	24769365	24769365	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggatatttccgccgggcgCtgtcagcattgaaagaggct	8	10	14	9	3	1	2	1	1	0	1	2	3	2	3	2	3	1	3	2	3	2	3			TCGA-FC-A4JI-01A-11D-A257-08	TCGA-FC-A4JI-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf6e6dd2-52d7-488b-8552-3e174d19744f	d4794705-4c1b-44dc-9a70-ee6671ee7c62	g.chr14:24769365C>T	ENST00000267425.3	+	1	298	c.205C>T	c.(205-207)Ctg>Ttg	p.L69L	DHRS1_ENST00000288111.7_5'Flank|DHRS1_ENST00000396813.1_5'Flank|NOP9_ENST00000396802.3_Silent_p.L69L	NM_174913.1	NP_777573.1	Q86U38	NOP9_HUMAN	NOP9 nucleolar protein	69							poly(A) RNA binding (GO:0044822)										CCGCCGGGCGCTGTCAGCATT	0.617																																						ENST00000267425.3																			0											c.(205-207)Ctg>Ttg		NOP9 nucleolar protein							50	59	56					14																	24769365		2180	4274	6454	SO:0001819	synonymous_variant	161424							g.chr14:24769365C>T		CCDS9624.1, CCDS66616.1	14q12	2012-12-10	2012-12-10	2012-06-06	ENSG00000196943	ENSG00000196943			19826	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 21", "NOP9 nucleolar protein homolog (yeast)"	C14orf21		21653694	Standard	XM_005267385		Approved		uc001wol.1	Q86U38	OTTHUMG00000029342	ENST00000267425.3:c.205C>T	14.37:g.24769365C>T						NOP9_ENST00000396802.3_Silent_p.L69L	p.L69L	NM_174913.1	NP_777573.1					1	298	+								A8MY76|Q8IVF0|Q8TBS6	Silent	SNP	ENST00000267425.3	37	c.205C>T	CCDS9624.1																																																																																				0.617	NOP9-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073186.2			42	87	0	0	0	1	0	42	87					T	24769365	C	T	24769365	2	4	143	1	0	0	0	0	0	0	0	1	1769	796	28	3		3	C14orf21	14	24769365	Silent	SNP	C	TCGA-FC-A4JI-01A-11D-A257-08		24769365	82580175	31	7167											
TP53BP1	7158	broad.mit.edu	37	chr15	43701249	43701249	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	caggaagtacttccgggttcGacaatgctgatccgcaatta	11	10	10	10	3	0	1	0	1	0	0	3	3	2	2	2	2	2	4	2	2	5	4			TCGA-FC-A4JI-01A-11D-A257-08	TCGA-FC-A4JI-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf6e6dd2-52d7-488b-8552-3e174d19744f	d4794705-4c1b-44dc-9a70-ee6671ee7c62	g.chr15:43701249G>A	ENST00000263801.3	-	26	5683	c.5431C>T	c.(5431-5433)Cga>Tga	p.R1811*	TP53BP1_ENST00000450115.2_Nonsense_Mutation_p.R1814*|TP53BP1_ENST00000382039.3_Nonsense_Mutation_p.R1766*|TP53BP1_ENST00000382044.4_Nonsense_Mutation_p.R1816*	NM_005657.2	NP_005648.1	Q12888	TP53B_HUMAN	tumor protein p53 binding protein 1	1811	BRCT 1. {ECO:0000255|PROSITE- ProRule:PRU00033}.				cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|replication fork (GO:0005657)	damaged DNA binding (GO:0003684)|methylated histone binding (GO:0035064)|p53 binding (GO:0002039)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II transcription cofactor activity (GO:0001104)|telomeric DNA binding (GO:0042162)			breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3)	72		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;1.59e-06)		TTCCGGGTTCGACAATGCTGA	0.498								Other conserved DNA damage response genes																														ENST00000263801.3																			0				breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3)	72						c.(5431-5433)Cga>Tga	Other conserved DNA damage response genes	tumor protein p53 binding protein 1							144	108	120					15																	43701249		2201	4298	6499	SO:0001587	stop_gained	7158				double-strand break repair via homologous recombination|positive regulation of transcription from RNA polymerase II promoter	condensed chromosome kinetochore|cytoplasm|nucleoplasm	p53 binding|RNA polymerase II activating transcription factor binding|RNA polymerase II transcription cofactor activity	g.chr15:43701249G>A	U09477	CCDS10096.1, CCDS45250.1, CCDS45251.1	15q15-q21	2007-08-02	2007-08-02		ENSG00000067369	ENSG00000067369			11999	protein-coding gene	gene with protein product		605230	"tumor protein p53-binding protein, 1"			8016121, 9748285	Standard	NM_005657		Approved	53BP1, p202	uc001zrr.4	Q12888	OTTHUMG00000059757	ENST00000263801.3:c.5431C>T	15.37:g.43701249G>A	ENSP00000263801:p.Arg1811*					TP53BP1_ENST00000382039.3_Nonsense_Mutation_p.R1766*|TP53BP1_ENST00000382044.4_Nonsense_Mutation_p.R1816*|TP53BP1_ENST00000450115.2_Nonsense_Mutation_p.R1814*	p.R1811*	NM_005657.2	NP_005648.1	Q12888	TP53B_HUMAN		GBM - Glioblastoma multiforme(94;1.59e-06)	26	5683	-		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)	1811			BRCT 1.		F8VY86|Q2M1Z7|Q4LE46|Q5FWZ3|Q7Z3U4	Nonsense_Mutation	SNP	ENST00000263801.3	37	c.5431C>T	CCDS10096.1	.	.	.	.	.	.	.	.	.	.	G	18.32	3.599130	0.66332	.	.	ENSG00000067369	ENST00000263801;ENST00000382044;ENST00000382039;ENST00000450115	.	.	.	5.35	5.35	0.76521	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-6.8155	19.425	0.94737	0.0:0.0:1.0:0.0	.	.	.	.	X	1811;1816;1766;1814	.	ENSP00000263801:R1811X	R	-	1	2	TP53BP1	41488541	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.120000	0.94369	2.664000	0.90586	0.655000	0.94253	CGA		0.498	TP53BP1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000132897.3			7	40	0	0	0	1	0	7	40					A	43701249	G	A	43701249	4	1	143	1	0	0	0	0	0	1	0	0	16380	1066	37	2	499	2	TP53BP1	15	43701249	Nonsense_Mutation	SNP	G	TCGA-FC-A4JI-01A-11D-A257-08		43701249	58830143	32	7168											
MYO15A	51168	broad.mit.edu	37	chr17	18023051	18023051	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gctacggctacgacgattacGaacccccatatgcgcccccg	9	6	9	17	6	0	0	0	0	0	0	0	3	0	0	4	1	5	2	4	1	5	4			TCGA-FC-A4JI-01A-11D-A257-08	TCGA-FC-A4JI-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf6e6dd2-52d7-488b-8552-3e174d19744f	d4794705-4c1b-44dc-9a70-ee6671ee7c62	g.chr17:18023051G>A	ENST00000205890.5	+	2	1275	c.937G>A	c.(937-939)Gaa>Aaa	p.E313K		NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	313					inner ear morphogenesis (GO:0042472)|locomotory behavior (GO:0007626)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|stereocilium (GO:0032420)	ATP binding (GO:0005524)|motor activity (GO:0003774)	p.E313K(1)		breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					CGACGATTACGAACCCCCATA	0.612																																						ENST00000205890.5																			1	Substitution - Missense(1)	p.E313K(1)	breast(1)	breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99						c.(937-939)Gaa>Aaa		myosin XVA							47	54	52					17																	18023051		1916	4112	6028	SO:0001583	missense	51168				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity	g.chr17:18023051G>A	AF144094	CCDS42271.1	17p11.2	2011-09-27			ENSG00000091536	ENSG00000091536		"Myosins / Myosin superfamily : Class XV"	7594	protein-coding gene	gene with protein product		602666		DFNB3, MYO15		9603736	Standard	NM_016239		Approved		uc021trl.1	Q9UKN7	OTTHUMG00000059390	ENST00000205890.5:c.937G>A	17.37:g.18023051G>A	ENSP00000205890:p.Glu313Lys						p.E313K	NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN			2	1275	+	all_neural(463;0.228)		313			Myosin head-like.		B4DFC7	Missense_Mutation	SNP	ENST00000205890.5	37	c.937G>A	CCDS42271.1	.	.	.	.	.	.	.	.	.	.	G	12.66	2.006030	0.35415	.	.	ENSG00000091536	ENST00000205890	D	0.87809	-2.3	5.82	4.83	0.62350	.	.	.	.	.	T	0.74558	0.3732	N	0.24115	0.695	0.58432	D	0.999998	P	0.50710	0.938	B	0.25405	0.06	T	0.77672	-0.2500	9	0.48119	T	0.1	.	16.3486	0.83191	0.0:0.1324:0.8676:0.0	.	313	Q9UKN7	MYO15_HUMAN	K	313	ENSP00000205890:E313K	ENSP00000205890:E313K	E	+	1	0	MYO15A	17963776	0.162000	0.22906	0.845000	0.33349	0.015000	0.08874	2.752000	0.47516	1.427000	0.47276	0.561000	0.74099	GAA		0.612	MYO15A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132048.1	NM_016239		24	47	0	0	0	1	0	24	47					A	18023051	G	A	18023051	3	1	143	1	0	0	0	0	1	0	0	0	10063	1059	37	2	939	2	MYO15A	17	18023051	Missense_Mutation	SNP	G	TCGA-FC-A4JI-01A-11D-A257-08		18023051	63172159	33	7169											
ACACA	31	broad.mit.edu	37	chr17	35479506	35479506	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgggatacttagttctactgTtcgggtttctacagcaacaa	10	14	9	8	1	2	0	0	0	2	0	3	1	2	1	0	2	5	4	0	2	6	7			TCGA-FC-A4JI-01A-11D-A257-08	TCGA-FC-A4JI-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf6e6dd2-52d7-488b-8552-3e174d19744f	d4794705-4c1b-44dc-9a70-ee6671ee7c62	g.chr17:35479506T>C	ENST00000394406.2	-	49	6164	c.5974A>G	c.(5974-5976)Aca>Gca	p.T1992A	ACACA_ENST00000335166.5_Missense_Mutation_p.T1914A|ACACA_ENST00000361253.5_Missense_Mutation_p.T118A|ACACA_ENST00000360679.3_Missense_Mutation_p.T1934A|ACACA_ENST00000353139.5_Missense_Mutation_p.T2029A	NM_198836.1	NP_942133.1	Q13085	ACACA_HUMAN	acetyl-CoA carboxylase alpha	1992	Carboxyltransferase.				acetyl-CoA metabolic process (GO:0006084)|biotin metabolic process (GO:0006768)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|lipid homeostasis (GO:0055088)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|malonyl-CoA biosynthetic process (GO:2001295)|multicellular organismal protein metabolic process (GO:0044268)|positive regulation of cellular metabolic process (GO:0031325)|protein homotetramerization (GO:0051289)|small molecule metabolic process (GO:0044281)|tissue homeostasis (GO:0001894)|triglyceride biosynthetic process (GO:0019432)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	acetyl-CoA carboxylase activity (GO:0003989)|ATP binding (GO:0005524)|biotin carboxylase activity (GO:0004075)|metal ion binding (GO:0046872)			NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	AGTTCTACTGTTCGGGTTTCT	0.463																																					Colon(23;82 258 739 2117 10493 24037 27661 34815 35438 36249)	ENST00000353139.5																			0				NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83						c.(6085-6087)Aca>Gca		acetyl-CoA carboxylase alpha	Biotin(DB00121)						197	178	184					17																	35479506		2203	4300	6503	SO:0001583	missense	31				acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding	g.chr17:35479506T>C	U19822	CCDS11317.1, CCDS11318.1, CCDS42302.1, CCDS42303.1	17q21	2014-05-06	2010-04-30		ENSG00000132142	ENSG00000278540	6.4.1.2		84	protein-coding gene	gene with protein product	"acetyl-CoA carboxylase 1"	200350	"acetyl-Coenzyme A carboxylase alpha"	ACAC, ACC			Standard	NM_198837		Approved	ACC1	uc002hno.3	Q13085	OTTHUMG00000188463	ENST00000394406.2:c.5974A>G	17.37:g.35479506T>C	ENSP00000377928:p.Thr1992Ala					ACACA_ENST00000361253.5_Missense_Mutation_p.T118A|ACACA_ENST00000394406.2_Missense_Mutation_p.T1992A|ACACA_ENST00000360679.3_Missense_Mutation_p.T1934A|ACACA_ENST00000335166.5_Missense_Mutation_p.T1914A	p.T2029A	NM_198834.1|NM_198839.1	NP_942131.1|NP_942136.1	Q13085	ACACA_HUMAN			49	6566	-		Breast(25;0.00157)|Ovarian(249;0.15)	1992			Carboxyltransferase.		B2RP68|Q6KEV6|Q6XDA8|Q7Z2G8|Q7Z561|Q7Z563|Q7Z564|Q86WB2|Q86WB3	Missense_Mutation	SNP	ENST00000394406.2	37	c.6085A>G	CCDS11317.1	.	.	.	.	.	.	.	.	.	.	T	16.91	3.252112	0.59212	.	.	ENSG00000132142	ENST00000353139;ENST00000360679;ENST00000394406;ENST00000452074;ENST00000335166;ENST00000427330;ENST00000361253	T;T;T;T;T	0.30714	1.52;1.52;1.52;1.52;1.52	5.96	5.96	0.96718	Acetyl-coenzyme A carboxyltransferase, C-terminal (1);Carboxyl transferase (1);	0.054275	0.85682	D	0.000000	T	0.37652	0.1011	M	0.72479	2.2	0.80722	D	1	B;B;B;B;B	0.17038	0.012;0.02;0.002;0.013;0.01	B;B;B;B;B	0.19946	0.021;0.019;0.006;0.027;0.016	T	0.11767	-1.0574	10	0.42905	T	0.14	-11.8385	16.4444	0.83913	0.0:0.0:0.0:1.0	.	30;691;2029;1992;1934	B4DIG6;F8W6G0;Q13085-4;Q13085;Q13085-2	.;.;.;ACACA_HUMAN;.	A	2029;1934;1992;2016;1914;691;118	ENSP00000344789:T2029A;ENSP00000353898:T1934A;ENSP00000377928:T1992A;ENSP00000335323:T1914A;ENSP00000354565:T118A	ENSP00000335323:T1914A	T	-	1	0	ACACA	32553619	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.547000	0.45786	2.280000	0.76307	0.519000	0.50382	ACA		0.463	ACACA-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256696.1	NM_198836		20	73	0	0	0	1	0	20	73					C	35479506	T	C	35479506	3	2	143	1	0	0	0	0	1	0	0	0	106	1725	60	4	1098	4	ACACA	17	35479506	Missense_Mutation	SNP	T	TCGA-FC-A4JI-01A-11D-A257-08	17456455	35479506	45715704	34	7170											
PRKAR1A	5573	broad.mit.edu	37	chr17	66519943	66519943	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgctgttttcacatcttgaTgataatgagagaaggtagga	12	13	12	4	0	2	4	1	3	1	1	2	6	2	5	0	2	1	3	0	2	3	5	rs3730371		TCGA-FC-A4JI-01A-11D-A257-08	TCGA-FC-A4JI-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf6e6dd2-52d7-488b-8552-3e174d19744f	d4794705-4c1b-44dc-9a70-ee6671ee7c62	g.chr17:66519943T>C	ENST00000589228.1	+	4	554	c.426T>C	c.(424-426)gaT>gaC	p.D142D	PRKAR1A_ENST00000588188.2_Silent_p.D142D|PRKAR1A_ENST00000392711.1_Silent_p.D142D|PRKAR1A_ENST00000358598.2_Silent_p.D142D|PRKAR1A_ENST00000536854.2_Silent_p.D142D|PRKAR1A_ENST00000586397.1_Silent_p.D142D	NM_001276289.1|NM_001278433.1	NP_001263218.1|NP_001265362.1	P10644	KAP0_HUMAN	protein kinase, cAMP-dependent, regulatory, type I, alpha	142					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|blood coagulation (GO:0007596)|cardiac muscle cell proliferation (GO:0060038)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|female meiotic division (GO:0007143)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|mesoderm formation (GO:0001707)|negative regulation of cAMP-dependent protein kinase activity (GO:2000480)|negative regulation of meiosis (GO:0045835)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of insulin secretion (GO:0050796)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|sarcomere organization (GO:0045214)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	AMP-activated protein kinase complex (GO:0031588)|cAMP-dependent protein kinase complex (GO:0005952)|cytosol (GO:0005829)|membrane (GO:0016020)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	cAMP binding (GO:0030552)|cAMP-dependent protein kinase inhibitor activity (GO:0004862)|cAMP-dependent protein kinase regulator activity (GO:0008603)|protein kinase A catalytic subunit binding (GO:0034236)|ubiquitin protein ligase binding (GO:0031625)			adrenal_gland(4)|breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(8)|soft_tissue(2)|stomach(2)|testis(1)|thyroid(2)|upper_aerodigestive_tract(1)	31	Breast(10;1.64e-13)					CACATCTTGATGATAATGAGA	0.368			"T, Mis, N, F, S"	RET	papillary thyroid	"myxoma, endocrine, papillary thyroid"			Primary Pigmented Nodular Adrenocortical Disease, Familial;Carney Complex;Cardiac Myxomas, Familial Clustering of																												Ovarian(167;637 1670 33025 39608 46699 51856)	ENST00000589228.1			yes	"Dom, Rec"	yes	Carney complex	17	17q23-q24	5573	"T, Mis, N, F, S"	"protein kinase, cAMP-dependent, regulatory, type I, alpha (tissue specific extinguisher 1)"			"E, M"	RET	"myxoma, endocrine, papillary thyroid"	papillary thyroid		0				adrenal_gland(4)|breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(8)|soft_tissue(2)|stomach(2)|testis(1)|thyroid(2)|upper_aerodigestive_tract(1)	31						c.(424-426)gaT>gaC		protein kinase, cAMP-dependent, regulatory, type I, alpha							100	95	97					17																	66519943		2203	4300	6503	SO:0001819	synonymous_variant	5573	Primary Pigmented Nodular Adrenocortical Disease, Familial;Carney Complex;Cardiac Myxomas, Familial Clustering of	Familial Cancer Database	iPPNAD, PPNAD1, incl. familial micronodular adrenocortical hyperplasia, PPNAD2;Carney syndrome, NAME syndrome, LAMB syndrome, Familial Myxoma syndrome;	activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|intracellular signal transduction|nerve growth factor receptor signaling pathway|regulation of insulin secretion|regulation of transcription from RNA polymerase II promoter|transmembrane transport|water transport	cAMP-dependent protein kinase complex|cytosol	cAMP binding|cAMP-dependent protein kinase regulator activity|protein binding	g.chr17:66519943T>C		CCDS11678.1, CCDS62307.1	17q24.2	2014-09-17	2012-07-31		ENSG00000108946	ENSG00000108946	2.7.11.1		9388	protein-coding gene	gene with protein product	"Carney complex type 1"	188830	"tissue specific extinguisher 1"	PRKAR1, TSE1		3479018, 10973256	Standard	NM_212471		Approved	CNC1	uc002jhg.4	P10644	OTTHUMG00000180128	ENST00000589228.1:c.426T>C	17.37:g.66519943T>C						PRKAR1A_ENST00000536854.2_Silent_p.D142D|PRKAR1A_ENST00000358598.2_Silent_p.D142D|PRKAR1A_ENST00000586397.1_Silent_p.D142D|PRKAR1A_ENST00000588188.2_Silent_p.D142D|PRKAR1A_ENST00000392711.1_Silent_p.D142D	p.D142D	NM_001276289.1|NM_001278433.1	NP_001263218.1|NP_001265362.1	P10644	KAP0_HUMAN			4	554	+	Breast(10;1.64e-13)		142					K7ER48|Q567S7	Silent	SNP	ENST00000589228.1	37	c.426T>C	CCDS11678.1																																																																																				0.368	PRKAR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449884.1			12	21	0	0	0	1	0	12	21					C	66519943	T	C	66519943	2	2	143	1	0	0	0	0	0	0	0	1	12503	1461	51	4		4	PRKAR1A	17	66519943	Silent	SNP	T	TCGA-FC-A4JI-01A-11D-A257-08	31040437	66519943	14675267	35	7171											
RNF213	57674	broad.mit.edu	37	chr17	78320681	78320681	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttagatgaggtggggctggCggaagactcacccaaaatgc	11	7	15	8	1	1	3	1	1	0	2	1	4	1	4	1	5	1	2	1	5	4	1			TCGA-FC-A4JI-01A-11D-A257-08	TCGA-FC-A4JI-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf6e6dd2-52d7-488b-8552-3e174d19744f	d4794705-4c1b-44dc-9a70-ee6671ee7c62	g.chr17:78320681C>T	ENST00000582970.1	+	29	8689	c.8546C>T	c.(8545-8547)gCg>gTg	p.A2849V	RNF213_ENST00000508628.2_Missense_Mutation_p.A2898V|RNF213_ENST00000336301.6_Missense_Mutation_p.A922V	NM_001256071.1	NP_001243000.1	Q63HN8	RN213_HUMAN	ring finger protein 213	2849					ATP catabolic process (GO:0006200)|protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATPase activity (GO:0016887)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			GTGGGGCTGGCGGAAGACTCA	0.602																																						ENST00000582970.1																			0				NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130						c.(8545-8547)gCg>gTg		ring finger protein 213							57	52	53					17																	78320681		2203	4300	6503	SO:0001583	missense	57674							g.chr17:78320681C>T	AK074030	CCDS58606.1	17q25.3	2013-01-09	2007-02-08	2007-02-08		ENSG00000173821		"RING-type (C3HC4) zinc fingers"	14539	protein-coding gene	gene with protein product		613768	"chromosome 17 open reading frame 27", "KIAA1618", "moyamoya disease 2", "Moyamoya disease 2"	C17orf27, KIAA1618, MYMY2		10997877, 21048783, 21799892	Standard	NM_020954		Approved	KIAA1554, NET57	uc021uen.2	Q63HN8		ENST00000582970.1:c.8546C>T	17.37:g.78320681C>T	ENSP00000464087:p.Ala2849Val					RNF213_ENST00000336301.6_Missense_Mutation_p.A922V|RNF213_ENST00000508628.2_Missense_Mutation_p.A2898V	p.A2849V	NM_001256071.1	NP_001243000.1	Q9HCF4	ALO17_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)		29	8689	+	all_neural(118;0.0538)		0					C9JCP4|D6RI12|F8WKS1|Q658P6|Q69YK7|Q6MZR1|Q8IWF4|Q8IZX1|Q8IZX2|Q8N406|Q8TEU0|Q9H6C9|Q9H6H9|Q9H6P3|Q9H8A9|Q9HCF4|Q9HCL8	Missense_Mutation	SNP	ENST00000582970.1	37	c.8546C>T	CCDS58606.1	.	.	.	.	.	.	.	.	.	.	C	15.93	2.978282	0.53720	.	.	ENSG00000173821	ENST00000508628;ENST00000411702;ENST00000336301	T	0.32988	1.43	5.82	5.82	0.92795	ATPase, AAA+ type, core (1);	0.000000	0.85682	D	0.000000	T	0.55081	0.1898	L	0.58583	1.82	0.49389	D	0.999785	D	0.89917	1.0	D	0.77557	0.99	T	0.51702	-0.8672	10	0.59425	D	0.04	.	20.093	0.97828	0.0:1.0:0.0:0.0	.	922	Q63HN8	RN213_HUMAN	V	2849;2898;922	ENSP00000338218:A922V	ENSP00000338218:A922V	A	+	2	0	RNF213	75935276	1.000000	0.71417	0.923000	0.36655	0.708000	0.40852	7.699000	0.84547	2.751000	0.94390	0.563000	0.77884	GCG		0.602	RNF213-020	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000443298.1	NM_020914		11	35	0	0	0	1	0	11	35					T	78320681	C	T	78320681	3	4	143	1	0	0	0	0	1	0	0	0	13477	768	27	1	8975	1	RNF213	17	78320681	Missense_Mutation	SNP	C	TCGA-FC-A4JI-01A-11D-A257-08	11800738	78320681	2874529	36	7172											
ZNF236	7776	broad.mit.edu	37	chr18	74620423	74620423	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagacggcagaggtggtcgcAgcgaaccccgaggccatgct	9	4	15	13	4	0	2	0	0	0	2	1	4	0	2	3	4	3	3	3	4	1	0			TCGA-FC-A4JI-01A-11D-A257-08	TCGA-FC-A4JI-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf6e6dd2-52d7-488b-8552-3e174d19744f	d4794705-4c1b-44dc-9a70-ee6671ee7c62	g.chr18:74620423A>G	ENST00000253159.8	+	14	2637	c.2439A>G	c.(2437-2439)gcA>gcG	p.A813A	ZNF236_ENST00000320610.9_Silent_p.A815A	NM_007345.3	NP_031371.3	Q9UL36	ZN236_HUMAN	zinc finger protein 236	813					cellular response to glucose stimulus (GO:0071333)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(43)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	94		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)		AGGTGGTCGCAGCGAACCCCG	0.632																																						ENST00000253159.8																			0				NS(1)|breast(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(43)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	94						c.(2437-2439)gcA>gcG		zinc finger protein 236							50	58	55					18																	74620423		2105	4211	6316	SO:0001819	synonymous_variant	7776				cellular response to glucose stimulus	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr18:74620423A>G	AF085243	CCDS42447.1	18q22-q23	2013-01-08				ENSG00000130856		"Zinc fingers, C2H2-type"	13028	protein-coding gene	gene with protein product		604760				10458916	Standard	NM_007345		Approved		uc002lmi.3	Q9UL36		ENST00000253159.8:c.2439A>G	18.37:g.74620423A>G						ZNF236_ENST00000320610.9_Silent_p.A815A	p.A813A	NM_007345.3	NP_031371.3	Q9UL36	ZN236_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)	14	2637	+		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)	813					B2RTX9|Q9UL37	Silent	SNP	ENST00000253159.8	37	c.2439A>G	CCDS42447.1																																																																																				0.632	ZNF236-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000445776.1			40	39	0	0	0	1	0	40	39					G	74620423	A	G	74620423	2	3	143	1	0	0	0	0	0	0	0	1	17786	175	7	4		4	ZNF236	18	74620423	Silent	SNP	A	TCGA-FC-A4JI-01A-11D-A257-08		74620423	3456825	37	7173											
PSG8	440533	broad.mit.edu	37	chr19	43268388	43268388	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggttggctgggcttcaatcGtgacttgggcagtcgtgggt	4	13	17	7	2	1	1	1	1	0	0	3	1	1	1	0	5	0	4	0	5	1	3	rs142689447		TCGA-FC-A4JI-01A-11D-A257-08	TCGA-FC-A4JI-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf6e6dd2-52d7-488b-8552-3e174d19744f	d4794705-4c1b-44dc-9a70-ee6671ee7c62	g.chr19:43268388G>A	ENST00000306511.4	-	2	207	c.110C>T	c.(109-111)aCg>aTg	p.T37M	PSG8_ENST00000406636.3_Intron|PSG8_ENST00000404209.4_Missense_Mutation_p.T37M|PSG8_ENST00000401467.2_Missense_Mutation_p.T37M	NM_182707.2	NP_874366.1	Q9UQ74	PSG8_HUMAN	pregnancy specific beta-1-glycoprotein 8	37	Ig-like V-type.					extracellular region (GO:0005576)				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(19)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	40		Prostate(69;0.00899)				GGCTTCAATCGTGACTTGGGC	0.463													.|||	1	0.000199681	0	0	5008	,	,		21250	0		0.001	False		,,,				2504	0					ENST00000404209.4																			0				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(19)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	40						c.(109-111)aCg>aTg		pregnancy specific beta-1-glycoprotein 8		G	MET/THR,,MET/THR	0,4406		0,0,2203	173	170	171		110,,110	1.4	0	19	dbSNP_134	171	8,8590	6.4+/-24.3	0,8,4291	no	missense,intron,missense	PSG8	NM_001130167.1,NM_001130168.1,NM_182707.2	81,,81	0,8,6494	AA,AG,GG		0.093,0.0,0.0615	benign,,benign	37/420,,37/427	43268388	8,12996	2203	4299	6502	SO:0001583	missense	0					extracellular region		g.chr19:43268388G>A	M74106	CCDS33037.1, CCDS46090.1, CCDS46091.1	19q13.2	2013-01-29			ENSG00000124467	ENSG00000124467		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	9525	protein-coding gene	gene with protein product		176397				1672663, 1572651	Standard	NM_182707		Approved		uc002ouo.2	Q9UQ74	OTTHUMG00000151118	ENST00000306511.4:c.110C>T	19.37:g.43268388G>A	ENSP00000305005:p.Thr37Met					PSG8_ENST00000306511.4_Missense_Mutation_p.T37M|PSG8_ENST00000406636.3_Intron|PSG8_ENST00000401467.2_Missense_Mutation_p.T37M	p.T37M	NM_001130167.1	NP_001123639.1	Q9UQ74	PSG8_HUMAN			2	206	-		Prostate(69;0.00899)	37			Ig-like V-type.		A5PKV3|B2RPL4|B4DTI6|O60410|Q68CR6	Missense_Mutation	SNP	ENST00000306511.4	37	c.110C>T	CCDS33037.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	g	5.019	0.189287	0.09547	0.0	9.3E-4	ENSG00000124467	ENST00000404209;ENST00000401467;ENST00000407488;ENST00000306511	T;T;T	0.68331	-0.32;-0.32;-0.32	1.35	1.35	0.21983	Immunoglobulin V-set (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.72415	0.3457	M	0.77712	2.385	0.09310	N	1	P;B;P;B;B	0.44690	0.841;0.062;0.538;0.174;0.208	P;B;B;B;B	0.52646	0.705;0.063;0.204;0.066;0.109	T	0.60662	-0.7219	9	0.49607	T	0.09	.	6.1568	0.20342	0.0:0.0:1.0:0.0	.	37;37;37;37;37	B5MCQ0;Q9UQ74;E7ENH0;Q9UQ74-3;A5PKV3	.;PSG8_HUMAN;.;.;.	M	37	ENSP00000385869:T37M;ENSP00000386090:T37M;ENSP00000305005:T37M	ENSP00000305005:T37M	T	-	2	0	PSG8	47960228	0.007000	0.16637	0.011000	0.14972	0.031000	0.12232	2.204000	0.42761	1.063000	0.40649	0.184000	0.17185	ACG		0.463	PSG8-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000464526.1			38	97	0	0	0	1	0	38	97					A	43268388	G	A	43268388	3	1	143	1	0	0	0	0	1	0	0	0	12661	1145	40	1	1207	1	PSG8	19	43268388	Missense_Mutation	SNP	G	TCGA-FC-A4JI-01A-11D-A257-08		43268388	15860595	38	7174											
PSG7	5676	broad.mit.edu	37	chr19	43439764	43439764	+	RNA	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gatgtaacataatggtagagGtccctgatttgtcctttgta	10	15	10	6	0	0	2	0	1	0	1	2	3	2	2	2	2	1	3	2	2	4	6			TCGA-FC-A4JI-01A-11D-A257-08	TCGA-FC-A4JI-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf6e6dd2-52d7-488b-8552-3e174d19744f	d4794705-4c1b-44dc-9a70-ee6671ee7c62	g.chr19:43439764G>A	ENST00000406070.2	-	0	318				PSG7_ENST00000471557.1_RNA|PSG7_ENST00000446844.3_RNA	NM_002783.2	NP_002774.2	Q13046	PSG7_HUMAN	pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene)						female pregnancy (GO:0007565)	extracellular region (GO:0005576)							Prostate(69;0.00682)				AATGGTAGAGGTCCCTGATTT	0.423																																						ENST00000406070.2																			0													pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene)							188	193	191					19																	43439764		2201	4299	6500			5676				female pregnancy	extracellular region		g.chr19:43439764G>A			19q13.2	2013-01-29	2010-02-26		ENSG00000221878	ENSG00000221878		"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	9524	protein-coding gene	gene with protein product		176396	"pregnancy specific beta-1-glycoprotein 7"				Standard	NM_002783		Approved		uc010xwl.2	Q13046	OTTHUMG00000151125		19.37:g.43439764G>A						PSG7_ENST00000446844.3_RNA		NM_002783.2	NP_002774.2	Q13046	PSG7_HUMAN			0	318	-		Prostate(69;0.00682)						Q15232	RNA	SNP	ENST00000406070.2	37																																																																																						0.423	PSG7-001	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000321431.2	NM_001206650		48	152	0	0	0	1	0	48	152					A	43439764	G	A	43439764	1	1	143	0	1	0	0	0	0	0	0	0	12660	1252	44	3		3	PSG7	19	43439764	RNA	SNP	G	TCGA-FC-A4JI-01A-11D-A257-08	171376	43439764	15689219	39	7175											
CACNG7	59284	broad.mit.edu	37	chr19	54444869	54444869	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcctccttcctactcaaagaGgtgacgtccgtgggacctag	8	10	10	13	2	1	2	1	1	0	1	5	3	5	3	5	2	1	0	5	2	3	3			TCGA-FC-A4JI-01A-11D-A257-08	TCGA-FC-A4JI-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf6e6dd2-52d7-488b-8552-3e174d19744f	d4794705-4c1b-44dc-9a70-ee6671ee7c62	g.chr19:54444869G>A	ENST00000391767.1	+	5	782	c.570G>A	c.(568-570)gaG>gaA	p.E190E	CACNG7_ENST00000222212.2_Splice_Site_p.E190E|CACNG7_ENST00000391766.1_Silent_p.E190E			P62955	CCG7_HUMAN	calcium channel, voltage-dependent, gamma subunit 7	190					calcium ion transport (GO:0006816)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)			NS(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0711)		TACTCAAAGAGGTGACGTCCG	0.552																																						ENST00000391767.1																			0				NS(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23						c.e5+1		calcium channel, voltage-dependent, gamma subunit 7							127	115	119					19																	54444869		2203	4300	6503	SO:0001630	splice_region_variant	59284				regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr19:54444869G>A	AF288387	CCDS12868.1	19q13.4	2008-05-02			ENSG00000105605	ENSG00000105605		"Calcium channel subunits"	13626	protein-coding gene	gene with protein product		606899				11170751	Standard	NM_031896		Approved		uc002qcr.2	P62955	OTTHUMG00000064852	ENST00000391767.1:c.570+1G>A	19.37:g.54444869G>A						CACNG7_ENST00000391766.1_Silent_p.E190E|CACNG7_ENST00000222212.2_Splice_Site_p.E190_splice	p.E190_splice			P62955	CCG7_HUMAN		GBM - Glioblastoma multiforme(134;0.0711)	5	782	+	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)		190					Q52LL8|Q8VBX3|Q8WXS6|Q9BXT1	Splice_Site	SNP	ENST00000391767.1	37	c.570_splice	CCDS12868.1																																																																																				0.552	CACNG7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139240.2		Silent	4	77	0	0	0	1	0	4	77					A	54444869	G	A	54444869	5	1	143	1	0	0	0	0	0	0	1	0	2562	1014	35	3	584	3	CACNG7	19	54444869	Splice_Site	SNP	G	TCGA-FC-A4JI-01A-11D-A257-08	11005105	54444869	4684114	40	7176											
MAGEB4	4115	broad.mit.edu	37	chrX	30260826	30260826	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acgatggaaaccagagcagtGcctggacccttccaaggaat	13	6	11	11	1	0	1	0	0	0	1	1	5	1	4	4	3	3	1	4	3	3	1			TCGA-FC-A4JI-01A-11D-A257-08	TCGA-FC-A4JI-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf6e6dd2-52d7-488b-8552-3e174d19744f	d4794705-4c1b-44dc-9a70-ee6671ee7c62	g.chrX:30260826G>T	ENST00000378982.2	+	1	770	c.574G>T	c.(574-576)Gcc>Tcc	p.A192S	MAGEB1_ENST00000397550.1_5'Flank|MAGEB1_ENST00000378981.3_5'Flank	NM_002367.3	NP_002358.1	O15481	MAGB4_HUMAN	melanoma antigen family B, 4	192	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.									breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	27						CCAGAGCAGTGCCTGGACCCT	0.532																																						ENST00000378982.2																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	27						c.(574-576)Gcc>Tcc		melanoma antigen family B, 4							85	68	74					X																	30260826		2202	4300	6502	SO:0001583	missense	4115							g.chrX:30260826G>T		CCDS14221.1	Xp21.3	2009-03-17			ENSG00000120289	ENSG00000120289			6811	protein-coding gene	gene with protein product	"melanoma-associated antigen B4", "cancer/testis antigen family 3, member 6"	300153				9441743	Standard	NM_002367		Approved	MGC33144, CT3.6	uc004dcb.3	O15481	OTTHUMG00000021321	ENST00000378982.2:c.574G>T	X.37:g.30260826G>T	ENSP00000368266:p.Ala192Ser						p.A192S	NM_002367.3	NP_002358.1	O15481	MAGB4_HUMAN			1	770	+			192			MAGE.		B2R9G0|Q6FHH4|Q8IZ00	Missense_Mutation	SNP	ENST00000378982.2	37	c.574G>T	CCDS14221.1	.	.	.	.	.	.	.	.	.	.	G	3.937	-0.015064	0.07681	.	.	ENSG00000120289	ENST00000378982	T	0.04454	3.62	2.96	-1.45	0.08828	.	0.669254	0.12499	U	0.463521	T	0.00906	0.0030	N	0.00265	-1.74	0.09310	N	1	B	0.06786	0.001	B	0.14023	0.01	T	0.44360	-0.9333	10	0.12430	T	0.62	.	1.0307	0.01537	0.1369:0.1904:0.2821:0.3906	.	192	O15481	MAGB4_HUMAN	S	192	ENSP00000368266:A192S	ENSP00000368266:A192S	A	+	1	0	MAGEB4	30170747	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.220000	0.09215	-0.482000	0.06782	-1.453000	0.01033	GCC		0.532	MAGEB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056159.1	NM_002367		4	9	1	0	0.150653	1	0.150653	4	9					T	30260826	G	T	30260826	3	4	143	1	0	0	0	0	1	0	0	0	9178	1319	46	5	576	5	MAGEB4	23	30260826	Missense_Mutation	SNP	G	TCGA-FC-A4JI-01A-11D-A257-08		30260826	125009734	41	7177											
TRO	7216	broad.mit.edu	37	chrX	54957661	54957661	+	3'UTR	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	attccccatgtttacagataCcgctaataaattgcagtagt	13	13	6	9	1	0	1	0	0	0	1	1	1	1	1	3	0	3	4	3	0	6	8			TCGA-FC-A4JI-01A-11D-A257-08	TCGA-FC-A4JI-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf6e6dd2-52d7-488b-8552-3e174d19744f	d4794705-4c1b-44dc-9a70-ee6671ee7c62	g.chrX:54957661C>G	ENST00000173898.7	+	0	4444				TRO_ENST00000375022.4_Missense_Mutation_p.P671A|TRO_ENST00000420798.2_3'UTR|TRO_ENST00000399736.1_Missense_Mutation_p.P274A|TRO_ENST00000319167.8_Missense_Mutation_p.P671A|TRO_ENST00000375041.2_3'UTR	NM_001039705.2	NP_001034794.1	Q12816	TROP_HUMAN	trophinin						embryo implantation (GO:0007566)|homophilic cell adhesion (GO:0007156)|negative regulation of cell growth (GO:0030308)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|skin(2)|urinary_tract(1)	37						TTTACAGATACCGCTAATAAA	0.413																																						ENST00000319167.8																			0				breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|skin(2)|urinary_tract(1)	37						c.(2011-2013)Ccg>Gcg		trophinin							185	158	167					X																	54957661		1940	4113	6053	SO:0001624	3_prime_UTR_variant	7216				embryo implantation|homophilic cell adhesion	integral to plasma membrane		g.chrX:54957661C>G	U04811	CCDS43958.1, CCDS43959.1, CCDS59527.1, CCDS59528.1, CCDS59529.1	Xp11.22-p11.21	2008-02-05			ENSG00000067445	ENSG00000067445			12326	protein-coding gene	gene with protein product		300132				9533028, 11454705	Standard	NM_001039705		Approved	MAGE-D3, KIAA1114, MAGED3	uc004dtq.4	Q12816	OTTHUMG00000021640	ENST00000173898.7:c.*36C>G	X.37:g.54957661C>G						TRO_ENST00000399736.1_Missense_Mutation_p.P274A|TRO_ENST00000375041.2_3'UTR|TRO_ENST00000420798.2_3'UTR|TRO_ENST00000375022.4_Missense_Mutation_p.P671A|TRO_ENST00000173898.7_3'UTR	p.P671A	NM_016157.2	NP_057241.2	Q12816	TROP_HUMAN			13	2123	+			0					B1AKE9|B1AKF1|F5GY27|Q96SX2|Q9NU89|Q9UPN8	Missense_Mutation	SNP	ENST00000173898.7	37	c.2011C>G	CCDS43959.1	.	.	.	.	.	.	.	.	.	.	C	0.033	-1.321413	0.01320	.	.	ENSG00000067445	ENST00000319167;ENST00000375022;ENST00000399736	T;T;T	0.04194	3.93;3.93;3.68	2.9	0.922	0.19408	.	.	.	.	.	T	0.02610	0.0079	N	0.08118	0	0.09310	N	1	B;B	0.17465	0.007;0.022	B;B	0.19666	0.018;0.026	T	0.47724	-0.9095	9	0.30078	T	0.28	.	6.6275	0.22839	0.5137:0.4863:0.0:0.0	.	274;671	B1AKF1;Q96SX2	.;.	A	671;671;274	ENSP00000318278:P671A;ENSP00000364162:P671A;ENSP00000382641:P274A	ENSP00000318278:P671A	P	+	1	0	TRO	54974386	0.000000	0.05858	0.001000	0.08648	0.019000	0.09904	-0.065000	0.11617	0.113000	0.18004	0.600000	0.82982	CCG		0.413	TRO-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056837.3	NM_016157		16	9	0	0	0	1	0	16	9					G	54957661	C	G	54957661	1	3	143	0	1	0	0	0	0	0	0	0	16571	507	18	5		5	TRO	23	54957661	3'UTR	SNP	C	TCGA-FC-A4JI-01A-11D-A257-08	24696835	54957661	100312899	42	7178											
C1orf51	148523	broad.mit.edu	37	chr1	150255959	150255959	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cctatggcaggatctggggcGaaaagatcaagagatggtga	13	7	15	6	1	2	3	1	1	1	2	2	6	2	4	1	5	0	1	1	5	4	1			TCGA-FC-A5OB-01A-11D-A29Q-08	TCGA-FC-A5OB-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcaa1a41-14fc-43fa-b8d5-fe4b38c53b26	13d967a8-324f-4f11-a766-db89703af761	g.chr1:150255959G>A	ENST00000290363.5	+	1	731	c.282G>A	c.(280-282)gcG>gcA	p.A94A	C1orf51_ENST00000369095.1_Silent_p.A94A|C1orf51_ENST00000469255.1_3'UTR|C1orf51_ENST00000369094.1_Silent_p.A6A	NM_144697.2	NP_653298.1	Q8N365	CIART_HUMAN		94					circadian regulation of gene expression (GO:0032922)|locomotor rhythm (GO:0045475)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|E-box binding (GO:0070888)			endometrium(3)|large_intestine(2)|lung(3)|urinary_tract(2)	10	Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			GATCTGGGGCGAAAAGATCAA	0.527																																						ENST00000290363.5																			0				endometrium(3)|large_intestine(2)|lung(3)|urinary_tract(2)	10						c.(280-282)gcG>gcA		chromosome 1 open reading frame 51							98	95	96					1																	150255959		2203	4300	6503	SO:0001819	synonymous_variant	148523							g.chr1:150255959G>A																												ENST00000290363.5:c.282G>A	1.37:g.150255959G>A						C1orf51_ENST00000469255.1_3'UTR|C1orf51_ENST00000369094.1_Silent_p.A6A|C1orf51_ENST00000369095.1_Silent_p.A94A	p.A94A	NM_144697.2	NP_653298.1	Q8N365	CA051_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		1	731	+	Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		94					B2RD43|D3DV01|Q8N795|Q96MG6	Silent	SNP	ENST00000290363.5	37	c.282G>A	CCDS949.1																																																																																				0.527	C1orf51-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000035058.1			4	173	0	0	0	1	0	4	173					A	150255959	G	A	150255959	2	1	144	1	0	0	0	0	0	0	0	1	2043	1045	37	2		2	C1orf51	1	150255959	Silent	SNP	G	TCGA-FC-A5OB-01A-11D-A29Q-08		150255959	98994662	1	7179											
NR1I3	9970	broad.mit.edu	37	chr1	161206260	161206260	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gactctcacctgaagaaaccCttgcagccctcacaagtcag	12	7	7	15	0	3	2	3	1	1	1	4	3	3	2	3	0	3	1	3	0	3	1			TCGA-FC-A5OB-01A-11D-A29Q-08	TCGA-FC-A5OB-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcaa1a41-14fc-43fa-b8d5-fe4b38c53b26	13d967a8-324f-4f11-a766-db89703af761	g.chr1:161206260C>G	ENST00000367982.4	-	2	251	c.96G>C	c.(94-96)aaG>aaC	p.K32N	NR1I3_ENST00000508387.1_Intron|NR1I3_ENST00000505005.1_Missense_Mutation_p.K32N|NR1I3_ENST00000506209.1_Intron|NR1I3_ENST00000504010.1_Intron|NR1I3_ENST00000367984.4_Missense_Mutation_p.K32N|NR1I3_ENST00000511944.1_Missense_Mutation_p.K32N|NR1I3_ENST00000512372.1_Intron|NR1I3_ENST00000367979.2_Missense_Mutation_p.K32N|NR1I3_ENST00000511748.1_Intron|NR1I3_ENST00000508740.1_Intron|NR1I3_ENST00000502985.1_Missense_Mutation_p.K32N|NR1I3_ENST00000412844.2_Intron|NR1I3_ENST00000515452.1_Missense_Mutation_p.K32N|NR1I3_ENST00000367983.4_Missense_Mutation_p.K32N|NR1I3_ENST00000367985.3_Missense_Mutation_p.K32N|NR1I3_ENST00000442691.2_Missense_Mutation_p.K32N|NR1I3_ENST00000511676.1_Intron|NR1I3_ENST00000515621.1_Intron|NR1I3_ENST00000437437.2_Intron|NR1I3_ENST00000428574.2_Missense_Mutation_p.K32N|NR1I3_ENST00000367981.3_Intron|NR1I3_ENST00000367980.2_Missense_Mutation_p.K32N			Q14994	NR1I3_HUMAN	nuclear receptor subfamily 1, group I, member 3	32					androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	androgen receptor activity (GO:0004882)|DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|thyroid hormone receptor activity (GO:0004887)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1)	15	all_cancers(52;1.86e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00376)			TGAAGAAACCCTTGCAGCCCT	0.537																																						ENST00000367983.4																			0				endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1)	15						c.(94-96)aaG>aaC		nuclear receptor subfamily 1, group I, member 3							170	155	160					1																	161206260		2203	4300	6503	SO:0001583	missense	0				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	androgen receptor activity|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|thyroid hormone receptor activity|transcription coactivator activity|zinc ion binding	g.chr1:161206260C>G	Z30425	CCDS1228.1, CCDS41427.1, CCDS41428.1, CCDS41429.1, CCDS41430.1, CCDS44260.1, CCDS44261.1, CCDS44262.1, CCDS53405.1, CCDS53406.1, CCDS53407.1, CCDS53408.1, CCDS53409.1, CCDS53410.1, CCDS53411.1	1q23.3	2013-01-16			ENSG00000143257	ENSG00000143257		"Nuclear hormone receptors"	7969	protein-coding gene	gene with protein product	"constitutive androstane receptor"	603881				8114692	Standard	NM_001077480		Approved	MB67, CAR1, CAR	uc001fzp.3	Q14994	OTTHUMG00000034347	ENST00000367982.4:c.96G>C	1.37:g.161206260C>G	ENSP00000356961:p.Lys32Asn					NR1I3_ENST00000511944.1_Missense_Mutation_p.K32N|NR1I3_ENST00000515452.1_Missense_Mutation_p.K32N|NR1I3_ENST00000511676.1_Intron|NR1I3_ENST00000511748.1_Intron|NR1I3_ENST00000508740.1_Intron|NR1I3_ENST00000508387.1_Intron|NR1I3_ENST00000428574.2_Missense_Mutation_p.K32N|NR1I3_ENST00000505005.1_Missense_Mutation_p.K32N|NR1I3_ENST00000504010.1_Intron|NR1I3_ENST00000367982.4_Missense_Mutation_p.K32N|NR1I3_ENST00000412844.2_Intron|NR1I3_ENST00000512372.1_Intron|NR1I3_ENST00000367979.2_Missense_Mutation_p.K32N|NR1I3_ENST00000515621.1_Intron|NR1I3_ENST00000367980.2_Missense_Mutation_p.K32N|NR1I3_ENST00000367981.3_Intron|NR1I3_ENST00000502985.1_Missense_Mutation_p.K32N|NR1I3_ENST00000367985.3_Missense_Mutation_p.K32N|NR1I3_ENST00000506209.1_Intron|NR1I3_ENST00000367984.4_Missense_Mutation_p.K32N|NR1I3_ENST00000437437.2_Intron|NR1I3_ENST00000442691.2_Missense_Mutation_p.K32N	p.K32N			Q14994	NR1I3_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00376)		2	390	-	all_cancers(52;1.86e-18)|all_hematologic(112;0.093)		32					E9PB75|E9PC13|E9PDU3|E9PGH6|E9PH10|E9PHC8|E9PHN4|F1D8Q0|F1D8Q1|Q0VAC9|Q4U0F0|Q5VTW5|Q5VTW6|Q6GZ68|Q6GZ76|Q6GZ77|Q6GZ78|Q6GZ79|Q6GZ82|Q6GZ83|Q6GZ84|Q6GZ85|Q6GZ87|Q6GZ89	Missense_Mutation	SNP	ENST00000367982.4	37	c.96G>C	CCDS41430.1	.	.	.	.	.	.	.	.	.	.	C	18.61	3.661588	0.67700	.	.	ENSG00000143257	ENST00000367983;ENST00000367980;ENST00000442691;ENST00000428574;ENST00000505005;ENST00000367982;ENST00000502985;ENST00000511944;ENST00000367984;ENST00000367985;ENST00000367979;ENST00000515452	D;D;D;D;D;D;D;D;D;D;D;D	0.98264	-4.83;-4.83;-4.83;-4.83;-4.83;-4.83;-4.83;-4.83;-4.83;-4.83;-4.83;-4.83	5.44	-1.21	0.09524	Zinc finger, NHR/GATA-type (1);Zinc finger, nuclear hormone receptor-type (5);	0.145674	0.64402	D	0.000014	D	0.98770	0.9586	H	0.95224	3.64	0.43039	D	0.994621	D;D;D;D;D;D;D;D;D;D	0.89917	1.0;0.998;0.999;0.998;0.998;0.998;0.997;1.0;0.998;0.997	D;D;D;D;D;D;D;D;D;D	0.87578	0.998;0.997;0.979;0.997;0.99;0.99;0.95;0.989;0.99;0.95	D	0.98525	1.0625	9	0.87932	D	0	.	9.2748	0.37692	0.0:0.4013:0.0:0.5987	.	32;32;32;32;32;32;32;32;32;32	B7Z8R7;Q6GZ85;E9PHC8;Q0VAC9;F1D8Q1;Q14994;E9PC13;Q6GZ72;Q4U0F0;E9PB75	.;.;.;.;.;NR1I3_HUMAN;.;.;.;.	N	32	ENSP00000356962:K32N;ENSP00000356959:K32N;ENSP00000406493:K32N;ENSP00000412672:K32N;ENSP00000424934:K32N;ENSP00000356961:K32N;ENSP00000421374:K32N;ENSP00000426292:K32N;ENSP00000356963:K32N;ENSP00000356965:K32N;ENSP00000356958:K32N;ENSP00000427034:K32N	ENSP00000356958:K32N	K	-	3	2	NR1I3	159472884	0.607000	0.26958	0.996000	0.52242	0.982000	0.71751	-0.244000	0.08903	-0.068000	0.12953	-0.150000	0.13652	AAG		0.537	NR1I3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000083048.2			40	53	0	0	0	1	0	40	53					G	161206260	C	G	161206260	3	3	144	1	0	0	0	0	1	0	0	0	10621	680	24	5	1104	5	NR1I3	1	161206260	Missense_Mutation	SNP	C	TCGA-FC-A5OB-01A-11D-A29Q-08	10950301	161206260	88044361	2	7180											
SPEG	10290	broad.mit.edu	37	chr2	220329189	220329189	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agcccgtgcgcccagaccagCggcgctttgcggaggaggct	6	5	16	14	5	0	1	0	0	0	1	0	3	0	3	3	4	4	2	3	4	0	1			TCGA-FC-A5OB-01A-11D-A29Q-08	TCGA-FC-A5OB-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcaa1a41-14fc-43fa-b8d5-fe4b38c53b26	13d967a8-324f-4f11-a766-db89703af761	g.chr2:220329189C>T	ENST00000312358.7	+	9	2872	c.2740C>T	c.(2740-2742)Cgg>Tgg	p.R914W	SPEG_ENST00000396689.2_Missense_Mutation_p.R65W|SPEG_ENST00000396695.2_Missense_Mutation_p.R122W|SPEG_ENST00000396688.1_Missense_Mutation_p.R65W|SPEG_ENST00000396686.1_Missense_Mutation_p.R65W|SPEG_ENST00000485813.1_3'UTR|SPEG_ENST00000396698.1_Missense_Mutation_p.R810W	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	914	Ig-like 3.				cardiac muscle cell development (GO:0055013)|in utero embryonic development (GO:0001701)|muscle organ development (GO:0007517)|negative regulation of cell proliferation (GO:0008285)|respiratory system development (GO:0060541)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		CCCAGACCAGCGGCGCTTTGC	0.652																																						ENST00000312358.7																			0				breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100						c.(2740-2742)Cgg>Tgg		SPEG complex locus							57	65	62					2																	220329189		2091	4214	6305	SO:0001583	missense	10290				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity	g.chr2:220329189C>T	BC006346	CCDS42824.1, CCDS54432.1	2q35	2013-01-11	2006-04-27	2006-04-27	ENSG00000072195	ENSG00000072195		"Immunoglobulin superfamily / I-set domain containing"	16901	protein-coding gene	gene with protein product		615950	"aortic preferentially expressed gene 1"	APEG1		8663449, 10973969	Standard	NM_005876		Approved	MGC12676, KIAA1297, SPEGalpha, SPEGbeta, BPEG	uc010fwg.3	Q15772	OTTHUMG00000058925	ENST00000312358.7:c.2740C>T	2.37:g.220329189C>T	ENSP00000311684:p.Arg914Trp					SPEG_ENST00000396689.2_Missense_Mutation_p.R65W|SPEG_ENST00000396686.1_Missense_Mutation_p.R65W|SPEG_ENST00000396695.2_Missense_Mutation_p.R122W|SPEG_ENST00000396698.1_Missense_Mutation_p.R810W|SPEG_ENST00000485813.1_3'UTR|SPEG_ENST00000396688.1_Missense_Mutation_p.R65W	p.R914W	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)	9	2872	+		Renal(207;0.0183)	914			Ig-like 3.		A8K0G6|A8MRU0|Q27J74|Q695L1|Q6FGA6|Q6ZQW1|Q6ZTL8|Q9P2P9	Missense_Mutation	SNP	ENST00000312358.7	37	c.2740C>T	CCDS42824.1	.	.	.	.	.	.	.	.	.	.	C	23.8	4.454007	0.84209	.	.	ENSG00000072195	ENST00000312358;ENST00000265327;ENST00000396698;ENST00000396695;ENST00000396688;ENST00000396686;ENST00000396689	T;T;T;T;T;T	0.70749	-0.51;-0.51;-0.51;-0.51;-0.51;-0.51	5.1	1.78	0.24846	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.36002	N	0.002845	D	0.83492	0.5266	M	0.84326	2.69	0.44181	D	0.996991	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.992;0.997	D	0.85473	0.1174	10	0.87932	D	0	.	13.5772	0.61881	0.4088:0.5912:0.0:0.0	.	914;122;810	Q15772;Q15772-3;B9ZVR7	SPEG_HUMAN;.;.	W	914;914;810;122;65;65;65	ENSP00000311684:R914W;ENSP00000379926:R810W;ENSP00000379923:R122W;ENSP00000379919:R65W;ENSP00000379917:R65W;ENSP00000379920:R65W	ENSP00000265327:R914W	R	+	1	2	SPEG	220037433	1.000000	0.71417	1.000000	0.80357	0.931000	0.56810	3.053000	0.49901	0.503000	0.28060	0.561000	0.74099	CGG		0.652	SPEG-004	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130252.2	NM_005876		30	73	0	0	0	1	0	30	73					T	220329189	C	T	220329189	3	4	144	1	0	0	0	0	1	0	0	0	15035	759	27	1	2774	1	SPEG	2	220329189	Missense_Mutation	SNP	C	TCGA-FC-A5OB-01A-11D-A29Q-08		220329189	22870184	3	7181											
SGOL1	151648	broad.mit.edu	37	chr3	20215804	20215804	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atctgtgtatttcagtgctcTtttagctagaggcctggtga	7	16	11	7	0	3	2	1	1	2	1	3	2	3	2	1	2	2	3	1	2	3	5			TCGA-FC-A5OB-01A-11D-A29Q-08	TCGA-FC-A5OB-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcaa1a41-14fc-43fa-b8d5-fe4b38c53b26	13d967a8-324f-4f11-a766-db89703af761	g.chr3:20215804T>G	ENST00000263753.4	-	6	1358	c.1219A>C	c.(1219-1221)Aga>Cga	p.R407R	SGOL1_ENST00000429446.3_Intron|SGOL1_ENST00000412868.1_Silent_p.R407R|SGOL1_ENST00000442720.1_Intron|SGOL1_ENST00000306698.2_Intron|SGOL1_ENST00000383774.1_Intron|SGOL1_ENST00000425061.1_Intron|SGOL1_ENST00000452020.1_Intron|SGOL1_ENST00000412997.1_Silent_p.R407R|SGOL1-AS1_ENST00000441442.1_RNA|SGOL1_ENST00000421451.1_Silent_p.R407R|SGOL1_ENST00000437051.1_Intron|SGOL1_ENST00000443724.1_Intron|SGOL1_ENST00000419233.2_Intron|SGOL1-AS1_ENST00000448208.1_RNA|SGOL1_ENST00000417364.1_Intron	NM_001012410.3|NM_001199252.1	NP_001012410.1|NP_001186181.1	Q5FBB7	SGOL1_HUMAN	shugoshin-like 1 (S. pombe)	407					attachment of spindle microtubules to kinetochore (GO:0008608)|centriole-centriole cohesion (GO:0010457)|chromosome segregation (GO:0007059)|meiotic chromosome segregation (GO:0045132)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	centrosome (GO:0005813)|chromosome, centromeric region (GO:0000775)|condensed chromosome, centromeric region (GO:0000779)|condensed nuclear chromosome, centromeric region (GO:0000780)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|mitotic cohesin complex (GO:0030892)|nucleus (GO:0005634)|spindle pole (GO:0000922)	kinase binding (GO:0019900)			kidney(1)|large_intestine(4)|lung(6)|skin(1)|urinary_tract(2)	14						TTCAGTGCTCTTTTAGCTAGA	0.413																																						ENST00000412997.1																			0				kidney(1)|large_intestine(4)|lung(6)|skin(1)|urinary_tract(2)	14						c.(1219-1221)Aga>Cga		shugoshin-like 1 (S. pombe)							118	123	122					3																	20215804		2203	4300	6503	SO:0001819	synonymous_variant	151648				attachment of spindle microtubules to kinetochore|cell division|centriole-centriole cohesion|meiotic chromosome segregation|mitotic prometaphase	centrosome|condensed chromosome kinetochore|cytosol|mitotic cohesin complex|spindle pole	protein binding	g.chr3:20215804T>G	BC001339	CCDS2635.1, CCDS33716.1, CCDS46771.1, CCDS46772.1, CCDS46773.1, CCDS46774.1, CCDS56243.1	3p24.3	2005-07-27			ENSG00000129810	ENSG00000129810			25088	protein-coding gene	gene with protein product		609168				12747765	Standard	NM_001199251		Approved	NY-BR-85	uc003cbu.3	Q5FBB7	OTTHUMG00000130479	ENST00000263753.4:c.1219A>C	3.37:g.20215804T>G						SGOL1_ENST00000419233.2_Intron|SGOL1-AS1_ENST00000448208.1_RNA|SGOL1_ENST00000421451.1_Silent_p.R407R|SGOL1_ENST00000417364.1_Intron|SGOL1_ENST00000443724.1_Intron|SGOL1_ENST00000306698.2_Intron|SGOL1_ENST00000412868.1_Silent_p.R407R|SGOL1_ENST00000452020.1_Intron|SGOL1_ENST00000429446.3_Intron|SGOL1_ENST00000263753.4_Silent_p.R407R|SGOL1_ENST00000425061.1_Intron|SGOL1_ENST00000442720.1_Intron|SGOL1_ENST00000383774.1_Intron|SGOL1_ENST00000437051.1_Intron|SGOL1-AS1_ENST00000441442.1_RNA	p.R407R	NM_001199251.1	NP_001186180.1	Q5FBB7	SGOL1_HUMAN			6	1570	-			407					Q588H5|Q5FBB4|Q5FBB5|Q5FBB6|Q5FBB8|Q8N579|Q8WVL0|Q9BVA8|Q9H275	Silent	SNP	ENST00000263753.4	37	c.1219A>C	CCDS33716.1																																																																																				0.413	SGOL1-009	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000340498.1	NM_138484		7	94	0	0	0	1	0	7	94					G	20215804	T	G	20215804	2	3	144	1	0	0	0	0	0	0	0	1	14216	1617	56	5		5	SGOL1	3	20215804	Silent	SNP	T	TCGA-FC-A5OB-01A-11D-A29Q-08		20215804	177806626	4	7182											
BCHE	590	broad.mit.edu	37	chr3	165491240	165491240	+	Frame_Shift_Del	DEL	T	T	-																															ttttccagtccatcatgtaaTtgttccagcgatggaatcct																										TCGA-FC-A5OB-01A-11D-A29Q-08	TCGA-FC-A5OB-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcaa1a41-14fc-43fa-b8d5-fe4b38c53b26	13d967a8-324f-4f11-a766-db89703af761	g.chr3:165491240delT	ENST00000264381.3	-	4	1905	c.1739delA	c.(1738-1740)aatfs	p.N580fs	BCHE_ENST00000540653.1_Frame_Shift_Del_p.N42fs	NM_000055.2	NP_000046.1	P06276	CHLE_HUMAN	butyrylcholinesterase	580					cellular protein metabolic process (GO:0044267)|choline metabolic process (GO:0019695)|cocaine metabolic process (GO:0050783)|learning (GO:0007612)|negative regulation of cell proliferation (GO:0008285)|negative regulation of synaptic transmission (GO:0050805)|neuroblast differentiation (GO:0014016)|response to alkaloid (GO:0043279)|response to drug (GO:0042493)|response to folic acid (GO:0051593)|response to glucocorticoid (GO:0051384)|synaptic transmission, cholinergic (GO:0007271)	blood microparticle (GO:0072562)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|nuclear envelope lumen (GO:0005641)	acetylcholinesterase activity (GO:0003990)|beta-amyloid binding (GO:0001540)|catalytic activity (GO:0003824)|choline binding (GO:0033265)|cholinesterase activity (GO:0004104)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)			breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(34)|ovary(4)|pancreas(2)|stomach(1)	55					Aclidinium(DB08897)|Ambenonium(DB01122)|Bambuterol(DB01408)|Chloroprocaine(DB01161)|Chlorphenesin(DB00856)|Chlorpromazine(DB00477)|Choline(DB00122)|Cinchocaine(DB00527)|Cisplatin(DB00515)|Clevidipine(DB04920)|Cyclopentolate(DB00979)|Decamethonium(DB01245)|Demecarium(DB00944)|Diethylcarbamazine(DB00711)|Dipivefrin(DB00449)|Doxacurium chloride(DB01135)|Drospirenone(DB01395)|Echothiophate(DB01057)|Edrophonium(DB01010)|Ephedrine(DB01364)|Ethopropazine(DB00392)|Galantamine(DB00674)|Hexafluronium(DB00941)|Irinotecan(DB00762)|Isoflurophate(DB00677)|Malathion(DB00772)|Mefloquine(DB00358)|Mirabegron(DB08893)|Mivacurium(DB01226)|Neostigmine(DB01400)|Nizatidine(DB00585)|Oxybuprocaine(DB00892)|Pancuronium(DB01337)|Pegvisomant(DB00082)|Pentagastrin(DB00183)|Perindopril(DB00790)|Pipecuronium(DB01338)|Pralidoxime(DB00733)|Procainamide(DB01035)|Procaine(DB00721)|Pyridostigmine(DB00545)|Ramipril(DB00178)|Rivastigmine(DB00989)|Succinylcholine(DB00202)|Sulpiride(DB00391)|Terbutaline(DB00871)|Triamcinolone(DB00620)|Triflupromazine(DB00508)|Trimethaphan(DB01116)	CATCATGTAATTGTTCCAGCG	0.313																																						ENST00000264381.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(34)|ovary(4)|pancreas(2)|stomach(1)	55						c.(1738-1740)atfs		butyrylcholinesterase	Ambenonium(DB01122)|Atropine(DB00572)|Bambuterol(DB01408)|Chlorpromazine(DB00477)|Choline(DB00122)|Cinnarizine(DB00568)|Demecarium bromide(DB00944)|Dibucaine(DB00527)|Donepezil(DB00843)|Echothiophate Iodide(DB01057)|Edrophonium(DB01010)|Ethopropazine(DB00392)|Etomidate(DB00292)|Galantamine(DB00674)|Hexafluronium bromide(DB00941)|Isoflurophate(DB00677)|Mefloquine(DB00358)|Mivacurium(DB01226)|Neostigmine(DB01400)|Pancuronium(DB01337)|Pralidoxime(DB00733)|Procainamide(DB01035)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Succinylcholine(DB00202)|Terbutaline(DB00871)|Trimethaphan(DB01116)						126	121	123					3																	165491240		2202	4300	6502	SO:0001589	frameshift_variant	590				choline metabolic process|cocaine metabolic process|synaptic transmission, cholinergic	endoplasmic reticulum lumen|extracellular space|membrane	acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|enzyme binding	g.chr3:165491240delT	M16541	CCDS3198.1	3q26.1-q26.2	2013-07-10			ENSG00000114200	ENSG00000114200	3.1.1.8		983	protein-coding gene	gene with protein product		177400	"cholinesterase 1", "cholinesterase (serum) 2"	CHE1, CHE2		1769657, 2318303	Standard	NM_000055		Approved	E1	uc003fem.4	P06276	OTTHUMG00000158131	ENST00000264381.3:c.1739delA	3.37:g.165491240delT	ENSP00000264381:p.Asn580fs					BCHE_ENST00000540653.1_Frame_Shift_Del_p.N42fs	p.N580fs	NM_000055.2	NP_000046.1	P06276	CHLE_HUMAN			4	1905	-			580					A8K7P8	Frame_Shift_Del	DEL	ENST00000264381.3	37	c.1739delA	CCDS3198.1																																																																																				0.313	BCHE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350254.1			13	7						13	7	---	---	---	---	-	165491240	T	-	165491240	7	5	144	1	0	1	0	1	0	0	0	0	1358	1493	52	0	73	0	BCHE	3	165491240	Frame_Shift_Del	DEL	T	TCGA-FC-A5OB-01A-11D-A29Q-08	145275436	165491240	32531190	5	7183											
EIF5A2	56648	broad.mit.edu	37	chr3	170624851	170624851	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	aaatatcttcatattttttgCccgtgaaaatatcaattcca	14	16	3	8	1	3	1	2	1	1	0	4	1	4	1	2	0	1	0	2	0	7	8			TCGA-FC-A5OB-01A-11D-A29Q-08	TCGA-FC-A5OB-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcaa1a41-14fc-43fa-b8d5-fe4b38c53b26	13d967a8-324f-4f11-a766-db89703af761	g.chr3:170624851C>T	ENST00000295822.2	-	3	382	c.197G>A	c.(196-198)gGc>gAc	p.G66D	EIF5A2_ENST00000474096.1_Missense_Mutation_p.G66D|EIF5A2_ENST00000487522.1_Missense_Mutation_p.G66D|EIF5A2_ENST00000460117.1_Intron	NM_020390.5	NP_065123.1	Q9GZV4	IF5A2_HUMAN	eukaryotic translation initiation factor 5A2	66					cellular protein metabolic process (GO:0044267)|mRNA transport (GO:0051028)|peptidyl-lysine modification to peptidyl-hypusine (GO:0008612)|polyamine homeostasis (GO:0010509)|positive regulation of cell proliferation (GO:0008284)|positive regulation of translational elongation (GO:0045901)|positive regulation of translational termination (GO:0045905)|post-translational protein modification (GO:0043687)|protein transport (GO:0015031)|spermatogenesis (GO:0007283)|translational frameshifting (GO:0006452)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|nuclear pore (GO:0005643)	ribosome binding (GO:0043022)|translation elongation factor activity (GO:0003746)			large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	3	all_cancers(22;1.61e-19)|all_lung(20;1.59e-15)|Lung NSC(18;7.08e-15)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;9.8e-16)|Lung(28;4.28e-15)			ATATTTTTTGCCCGTGAAAAT	0.343																																						ENST00000295822.2																			0				large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	3						c.(196-198)gGc>gAc		eukaryotic translation initiation factor 5A2							84	84	84					3																	170624851		2203	4299	6502	SO:0001583	missense	56648				mRNA transport|peptidyl-lysine modification to hypusine|polyamine homeostasis|positive regulation of cell proliferation|positive regulation of translational elongation|positive regulation of translational termination|post-translational protein modification|protein transport|spermatogenesis|translational frameshifting|transmembrane transport	cytosol|endoplasmic reticulum membrane|nuclear pore	protein binding|ribosome binding|translation elongation factor activity	g.chr3:170624851C>T	AF293386	CCDS3214.1	3q26.2	2008-05-15			ENSG00000163577	ENSG00000163577			3301	protein-coding gene	gene with protein product		605782					Standard	NM_020390		Approved		uc003fhd.3	Q9GZV4	OTTHUMG00000158958	ENST00000295822.2:c.197G>A	3.37:g.170624851C>T	ENSP00000295822:p.Gly66Asp					EIF5A2_ENST00000474096.1_Missense_Mutation_p.G66D|EIF5A2_ENST00000487522.1_Missense_Mutation_p.G66D|EIF5A2_ENST00000460117.1_Intron	p.G66D	NM_020390.5	NP_065123.1	Q9GZV4	IF5A2_HUMAN	LUSC - Lung squamous cell carcinoma(14;9.8e-16)|Lung(28;4.28e-15)		3	382	-	all_cancers(22;1.61e-19)|all_lung(20;1.59e-15)|Lung NSC(18;7.08e-15)|Ovarian(172;0.00197)|Breast(254;0.122)		66					B2R4V5	Missense_Mutation	SNP	ENST00000295822.2	37	c.197G>A	CCDS3214.1	.	.	.	.	.	.	.	.	.	.	C	18.96	3.733865	0.69189	.	.	ENSG00000163577	ENST00000295822;ENST00000487522;ENST00000474096;ENST00000474417	T;T;T;T	0.47177	0.85;0.85;0.85;0.85	5.58	5.58	0.84498	Translation protein SH3-like (1);Translation protein SH3-like, subgroup (1);	0.000000	0.85682	D	0.000000	T	0.63803	0.2542	M	0.91717	3.235	0.58432	D	0.999999	D	0.54047	0.964	B	0.43916	0.436	T	0.75391	-0.3334	10	0.72032	D	0.01	-21.2456	19.5675	0.95401	0.0:1.0:0.0:0.0	.	66	Q9GZV4	IF5A2_HUMAN	D	66;66;66;47	ENSP00000295822:G66D;ENSP00000418305:G66D;ENSP00000418370:G66D;ENSP00000417133:G47D	ENSP00000295822:G66D	G	-	2	0	EIF5A2	172107545	0.788000	0.28762	1.000000	0.80357	0.988000	0.76386	2.793000	0.47845	2.640000	0.89533	0.561000	0.74099	GGC		0.343	EIF5A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352681.1			3	29	0	0	0	1	0	3	29					T	170624851	C	T	170624851	3	4	144	1	0	0	0	0	1	0	0	0	5042	739	26	3	276	3	EIF5A2	3	170624851	Missense_Mutation	SNP	C	TCGA-FC-A5OB-01A-11D-A29Q-08	5133611	170624851	27397579	6	7184											
KLHL24	54800	broad.mit.edu	37	chr3	183368748	183368748	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttgaggatgtatcccagcacGaagaatttcttgagcttgac	11	12	10	8	1	1	4	0	3	1	1	2	6	2	5	1	1	2	3	1	1	3	5			TCGA-FC-A5OB-01A-11D-A29Q-08	TCGA-FC-A5OB-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcaa1a41-14fc-43fa-b8d5-fe4b38c53b26	13d967a8-324f-4f11-a766-db89703af761	g.chr3:183368748G>A	ENST00000454652.2	+	4	990	c.604G>A	c.(604-606)Gaa>Aaa	p.E202K	KLHL24_ENST00000242810.6_Missense_Mutation_p.E202K|KLHL24_ENST00000476808.1_Missense_Mutation_p.E202K	NM_017644.3	NP_060114.2	Q6TFL4	KLH24_HUMAN	kelch-like family member 24	202	BACK.					cell projection (GO:0042995)|cytoplasm (GO:0005737)				NS(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(10)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27	all_cancers(143;2.88e-10)|Ovarian(172;0.0303)		all cancers(12;1.43e-42)|Epithelial(37;1.73e-36)|OV - Ovarian serous cystadenocarcinoma(80;8.75e-22)			ATCCCAGCACGAAGAATTTCT	0.378																																						ENST00000454652.1																			0				NS(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(10)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						c.(604-606)Gaa>Aaa		kelch-like family member 24							114	118	117					3																	183368748		2203	4300	6503	SO:0001583	missense	54800					axon|cytoplasm|perikaryon		g.chr3:183368748G>A		CCDS3246.1	3q27.1	2013-02-22	2013-02-22		ENSG00000114796	ENSG00000114796		"Kelch-like", "BTB/POZ domain containing"	25947	protein-coding gene	gene with protein product		611295	"kelch-like 24 (Drosophila)"				Standard	XM_005247552		Approved	DRE1, FLJ20059	uc003flv.3	Q6TFL4	OTTHUMG00000156911	ENST00000454652.2:c.604G>A	3.37:g.183368748G>A	ENSP00000395012:p.Glu202Lys					KLHL24_ENST00000242810.6_Missense_Mutation_p.E202K|KLHL24_ENST00000476808.1_Missense_Mutation_p.E202K	p.E202K			Q6TFL4	KLH24_HUMAN	all cancers(12;1.43e-42)|Epithelial(37;1.73e-36)|OV - Ovarian serous cystadenocarcinoma(80;8.75e-22)		4	990	+	all_cancers(143;2.88e-10)|Ovarian(172;0.0303)		202			BACK.		A5PLN8|Q9H620|Q9NXT9	Missense_Mutation	SNP	ENST00000454652.2	37	c.604G>A	CCDS3246.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.209603	0.79240	.	.	ENSG00000114796	ENST00000242810;ENST00000454652;ENST00000476808	T;T;T	0.71222	-0.55;-0.55;-0.55	5.3	5.3	0.74995	BTB/Kelch-associated (2);	0.045227	0.85682	D	0.000000	D	0.84115	0.5401	M	0.80508	2.5	0.80722	D	1	D;D	0.69078	0.997;0.991	P;P	0.62560	0.776;0.904	D	0.86473	0.1786	10	0.87932	D	0	.	18.958	0.92668	0.0:0.0:1.0:0.0	.	202;202	Q6TFL4-2;Q6TFL4	.;KLH24_HUMAN	K	202	ENSP00000242810:E202K;ENSP00000395012:E202K;ENSP00000419010:E202K	ENSP00000242810:E202K	E	+	1	0	KLHL24	184851442	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	9.476000	0.97823	2.472000	0.83506	0.460000	0.39030	GAA		0.378	KLHL24-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346586.2	NM_017644		4	86	0	0	0	1	0	4	86					A	183368748	G	A	183368748	3	1	144	1	0	0	0	0	1	0	0	0	8379	1059	37	2	606	2	KLHL24	3	183368748	Missense_Mutation	SNP	G	TCGA-FC-A5OB-01A-11D-A29Q-08	12743897	183368748	14653682	7	7185											
RANBP17	64901	broad.mit.edu	37	chr5	170640699	170640699	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggtatggagagccaacatgtAcaactcccatcttgaaactt	13	10	8	10	0	1	2	0	1	1	1	2	3	2	2	2	2	5	2	2	2	5	4	rs148262159		TCGA-FC-A5OB-01A-11D-A29Q-08	TCGA-FC-A5OB-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcaa1a41-14fc-43fa-b8d5-fe4b38c53b26	13d967a8-324f-4f11-a766-db89703af761	g.chr5:170640699A>G	ENST00000523189.1	+	21	2460	c.2296A>G	c.(2296-2298)Aca>Gca	p.T766A	RANBP17_ENST00000521759.1_3'UTR	NM_022897.3	NP_075048.1	Q9H2T7	RBP17_HUMAN	RAN binding protein 17	766					mRNA transport (GO:0051028)|protein import into nucleus (GO:0006606)	cytoplasm (GO:0005737)|nuclear pore (GO:0005643)	GTP binding (GO:0005525)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	50	Renal(175;0.000159)|Lung NSC(126;0.00751)|all_lung(126;0.0123)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			GCCAACATGTACAACTCCCAT	0.418			T	TRD@	ALL																																	ENST00000523189.1				Dom	yes		5	5q34	64901	T	RAN binding protein 17			L	TRD@		ALL		0				breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	50						c.(2296-2298)Aca>Gca		RAN binding protein 17		A	ALA/THR	0,4406		0,0,2203	197	183	188		2296	6	0.7	5	dbSNP_134	188	1,8599	1.2+/-3.3	0,1,4299	yes	missense	RANBP17	NM_022897.3	58	0,1,6502	GG,GA,AA		0.0116,0.0,0.0077	possibly-damaging	766/1089	170640699	1,13005	2203	4300	6503	SO:0001583	missense	64901				mRNA transport|protein import into nucleus|transmembrane transport	cytoplasm|nuclear pore	GTP binding|protein transporter activity	g.chr5:170640699A>G	AF222747	CCDS34287.1	5q34	2009-01-12			ENSG00000204764	ENSG00000204764			14428	protein-coding gene	gene with protein product		606141				11024021	Standard	NM_022897		Approved		uc003mba.3	Q9H2T7	OTTHUMG00000163203	ENST00000523189.1:c.2296A>G	5.37:g.170640699A>G	ENSP00000427975:p.Thr766Ala					RANBP17_ENST00000521759.1_3'UTR	p.T766A	NM_022897.3	NP_075048.1	Q9H2T7	RBP17_HUMAN	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)		21	2460	+	Renal(175;0.000159)|Lung NSC(126;0.00751)|all_lung(126;0.0123)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	766					Q8IU74	Missense_Mutation	SNP	ENST00000523189.1	37	c.2296A>G	CCDS34287.1	.	.	.	.	.	.	.	.	.	.	A	16.14	3.040224	0.55003	0.0	1.16E-4	ENSG00000204764	ENST00000523189;ENST00000534916	T	0.66815	-0.23	5.97	5.97	0.96955	Armadillo-type fold (1);	0.000000	0.64402	D	0.000005	T	0.70193	0.3196	M	0.83692	2.655	0.47698	D	0.999495	B;B	0.14012	0.009;0.009	B;B	0.15052	0.012;0.012	T	0.66638	-0.5873	10	0.32370	T	0.25	-13.9153	16.1223	0.81369	1.0:0.0:0.0:0.0	.	766;766	Q546R4;Q9H2T7	.;RBP17_HUMAN	A	766;196	ENSP00000427975:T766A	ENSP00000427975:T766A	T	+	1	0	RANBP17	170573304	1.000000	0.71417	0.701000	0.30321	0.624000	0.37722	4.719000	0.61937	2.288000	0.76882	0.533000	0.62120	ACA		0.418	RANBP17-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000372036.1	NM_022897		47	63	0	0	0	1	0	47	63					G	170640699	A	G	170640699	3	3	144	1	0	0	0	0	1	0	0	0	13027	391	14	4	2378	4	RANBP17	5	170640699	Missense_Mutation	SNP	A	TCGA-FC-A5OB-01A-11D-A29Q-08		170640699	10274561	8	7186											
MUC21	394263	broad.mit.edu	37	chr6	30954349	30954349	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcacaccctccagtggggccAgcacagccaccaactctgac	10	4	9	18	0	1	1	0	1	1	0	2	1	2	1	5	2	3	2	5	2	1	0			TCGA-FC-A5OB-01A-11D-A29Q-08	TCGA-FC-A5OB-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcaa1a41-14fc-43fa-b8d5-fe4b38c53b26	13d967a8-324f-4f11-a766-db89703af761	g.chr6:30954349A>G	ENST00000376296.3	+	2	638	c.397A>G	c.(397-399)Agc>Ggc	p.S133G	MUC21_ENST00000486149.2_5'UTR	NM_001010909.2	NP_001010909.2	Q5SSG8	MUC21_HUMAN	mucin 21, cell surface associated	133	28 X 15 AA approximate tandem repeats.|Ser-rich.				cellular protein metabolic process (GO:0044267)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of cell-substrate adhesion (GO:0010812)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(4)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	42						CAGTGGGGCCAGCACAGCCAC	0.612																																						ENST00000376296.3																			0				NS(4)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	42						c.(397-399)Agc>Ggc		mucin 21, cell surface associated							165	154	158					6																	30954349		2203	4300	6503	SO:0001583	missense	394263					integral to membrane|plasma membrane		g.chr6:30954349A>G	AK056612	CCDS34388.1	6p21.33	2008-05-14	2008-05-14	2008-05-14	ENSG00000204544	ENSG00000204544		"Mucins"	21661	protein-coding gene	gene with protein product	"epiglycanin"		"chromosome 6 open reading frame 205"	C6orf205		17977904	Standard	NM_001010909		Approved	bCX31G15.2	uc003nsh.2	Q5SSG8	OTTHUMG00000031216	ENST00000376296.3:c.397A>G	6.37:g.30954349A>G	ENSP00000365473:p.Ser133Gly					MUC21_ENST00000486149.2_5'UTR	p.S133G	NM_001010909.2	NP_001010909.2	Q5SSG8	MUC21_HUMAN			2	638	+			133			28 X 15 AA approximate tandem repeats.|Ser-rich.		B0UZT7|B4DQ55|C9JMK2|D9N007|Q0VGF1|Q3B7T2|Q5SS94|Q6UXC5	Missense_Mutation	SNP	ENST00000376296.3	37	c.397A>G	CCDS34388.1	.	.	.	.	.	.	.	.	.	.	A	13.25	2.181861	0.38511	.	.	ENSG00000204544	ENST00000450707;ENST00000376296	T	0.02369	4.32	3.56	0.787	0.18596	.	.	.	.	.	T	0.00666	0.0022	L	0.27053	0.805	0.09310	N	1	B	0.19073	0.033	B	0.22601	0.04	T	0.46789	-0.9166	8	.	.	.	-0.1118	4.2711	0.10787	0.7116:0.0:0.1109:0.1775	.	133	Q5SSG8	MUC21_HUMAN	G	133	ENSP00000365473:S133G	.	S	+	1	0	MUC21	31062328	0.000000	0.05858	0.004000	0.12327	0.164000	0.22412	0.014000	0.13333	0.527000	0.28560	0.397000	0.26171	AGC		0.612	MUC21-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000128579.3	NM_001010909		5	338	0	0	0	1	0	5	338					G	30954349	A	G	30954349	3	3	144	1	0	0	0	0	1	0	0	0	9977	188	7	4	403	4	MUC21	6	30954349	Missense_Mutation	SNP	A	TCGA-FC-A5OB-01A-11D-A29Q-08		30954349	140160718	9	7187											
DNAH8	1769	broad.mit.edu	37	chr6	38820472	38820472	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttttcctctgtcttacagccGcatctccctgcagtatctga	6	15	6	14	1	4	1	0	1	4	0	6	1	5	1	3	0	3	3	3	0	2	4	rs61757626		TCGA-FC-A5OB-01A-11D-A29Q-08	TCGA-FC-A5OB-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcaa1a41-14fc-43fa-b8d5-fe4b38c53b26	13d967a8-324f-4f11-a766-db89703af761	g.chr6:38820472G>A	ENST00000359357.3	+	38	5072	c.4818G>A	c.(4816-4818)ccG>ccA	p.P1606P	DNAH8_ENST00000441566.1_Silent_p.P1606P|DNAH8_ENST00000449981.2_Silent_p.P1823P			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	1606					cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						TCTTACAGCCGCATCTCCCTG	0.393																																						ENST00000359357.3																			0				NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						c.(4816-4818)ccG>ccA		dynein, axonemal, heavy chain 8							90	87	88					6																	38820472		2203	4300	6503	SO:0001819	synonymous_variant	1769							g.chr6:38820472G>A	Z83806	CCDS75447.1	6p21.2	2012-04-19	2006-09-04		ENSG00000124721	ENSG00000124721		"Axonemal dyneins"	2952	protein-coding gene	gene with protein product		603337	"dynein, axonemal, heavy polypeptide 8"			9373155	Standard	NM_001206927		Approved	hdhc9	uc021yzh.1	Q96JB1	OTTHUMG00000016253	ENST00000359357.3:c.4818G>A	6.37:g.38820472G>A						DNAH8_ENST00000449981.2_Silent_p.P1823P|DNAH8_ENST00000441566.1_Silent_p.P1606P	p.P1606P							38	5072	+								O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Silent	SNP	ENST00000359357.3	37	c.4818G>A																																																																																					0.393	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000043574.1	NM_001206927		3	44	0	0	0	1	0	3	44					A	38820472	G	A	38820472	2	1	144	1	0	0	0	0	0	0	0	1	4607	1074	38	1		1	DNAH8	6	38820472	Silent	SNP	G	TCGA-FC-A5OB-01A-11D-A29Q-08	7866123	38820472	132294595	10	7188											
PAQR8	85315	broad.mit.edu	37	chr6	52268580	52268580	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgccttctgtggctggttatCttgtgctggctgttgctatg	2	18	13	8	0	2	0	0	0	2	0	2	0	2	0	1	3	3	6	1	3	2	5			TCGA-FC-A5OB-01A-11D-A29Q-08	TCGA-FC-A5OB-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcaa1a41-14fc-43fa-b8d5-fe4b38c53b26	13d967a8-324f-4f11-a766-db89703af761	g.chr6:52268580C>G	ENST00000442253.2	+	2	743	c.569C>G	c.(568-570)tCt>tGt	p.S190C	PAQR8_ENST00000360726.3_Missense_Mutation_p.S190C	NM_133367.4	NP_588608.1	Q8TEZ7	MPRB_HUMAN	progestin and adipoQ receptor family member VIII	190					multicellular organismal development (GO:0007275)|oogenesis (GO:0048477)|response to steroid hormone (GO:0048545)|steroid hormone mediated signaling pathway (GO:0043401)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)			endometrium(1)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|skin(1)|urinary_tract(2)	17	Lung NSC(77;0.0875)					GGCTGGTTATCTTGTGCTGGC	0.512																																						ENST00000442253.2																			0				endometrium(1)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|skin(1)|urinary_tract(2)	17						c.(568-570)tCt>tGt		progestin and adipoQ receptor family member VIII							117	99	105					6																	52268580		2203	4300	6503	SO:0001583	missense	85315				cell differentiation|multicellular organismal development|oogenesis	integral to membrane|plasma membrane	receptor activity|steroid binding	g.chr6:52268580C>G	AF347029	CCDS4941.1	6p12	2012-08-10	2005-05-20	2005-05-20	ENSG00000170915	ENSG00000170915			15708	protein-coding gene	gene with protein product		607780	"chromosome 6 open reading frame 33"	C6orf33		11676489, 12574519	Standard	NM_133367		Approved	LMPB1, MPRB	uc003pao.4	Q8TEZ7	OTTHUMG00000014846	ENST00000442253.2:c.569C>G	6.37:g.52268580C>G	ENSP00000406197:p.Ser190Cys					PAQR8_ENST00000360726.3_Missense_Mutation_p.S190C	p.S190C	NM_133367.4	NP_588608.1	Q8TEZ7	MPRB_HUMAN			2	743	+	Lung NSC(77;0.0875)		190					B2RCF6|Q86WL0|Q8N6D3|Q9HD02	Missense_Mutation	SNP	ENST00000442253.2	37	c.569C>G	CCDS4941.1	.	.	.	.	.	.	.	.	.	.	C	17.51	3.408756	0.62399	.	.	ENSG00000170915	ENST00000442253;ENST00000360726	T;T	0.32753	1.44;1.44	5.41	4.54	0.55810	.	0.000000	0.85682	D	0.000000	T	0.43188	0.1236	M	0.73217	2.22	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.42155	-0.9468	9	.	.	.	-12.9309	13.2266	0.59919	0.0:0.9233:0.0:0.0767	.	190	Q8TEZ7	MPRB_HUMAN	C	190	ENSP00000406197:S190C;ENSP00000353953:S190C	.	S	+	2	0	PAQR8	52376539	1.000000	0.71417	0.055000	0.19348	0.902000	0.53008	7.818000	0.86416	1.278000	0.44430	0.563000	0.77884	TCT		0.512	PAQR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040903.2	NM_133367		4	86	0	0	0	1	0	4	86					G	52268580	C	G	52268580	3	3	144	1	0	0	0	0	1	0	0	0	11441	913	32	5	571	5	PAQR8	6	52268580	Missense_Mutation	SNP	C	TCGA-FC-A5OB-01A-11D-A29Q-08	13448108	52268580	118846487	11	7189			1	19		5	5	310	C		1.978634e-15
PAQR8	85315	broad.mit.edu	37	chr6	52268632	52268632	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	taccggaggccttatccagtCatgaggaagatctgtcaagt	11	10	11	9	1	3	2	2	1	1	1	4	4	4	4	3	3	1	0	3	3	4	2			TCGA-FC-A5OB-01A-11D-A29Q-08	TCGA-FC-A5OB-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcaa1a41-14fc-43fa-b8d5-fe4b38c53b26	13d967a8-324f-4f11-a766-db89703af761	g.chr6:52268632C>T	ENST00000442253.2	+	2	795	c.621C>T	c.(619-621)gtC>gtT	p.V207V	PAQR8_ENST00000360726.3_Silent_p.V207V	NM_133367.4	NP_588608.1	Q8TEZ7	MPRB_HUMAN	progestin and adipoQ receptor family member VIII	207					multicellular organismal development (GO:0007275)|oogenesis (GO:0048477)|response to steroid hormone (GO:0048545)|steroid hormone mediated signaling pathway (GO:0043401)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)	p.V207V(1)		endometrium(1)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|skin(1)|urinary_tract(2)	17	Lung NSC(77;0.0875)					CTTATCCAGTCATGAGGAAGA	0.547																																						ENST00000442253.2																			1	Substitution - coding silent(1)	p.V207V(1)	urinary_tract(1)	endometrium(1)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|skin(1)|urinary_tract(2)	17						c.(619-621)gtC>gtT		progestin and adipoQ receptor family member VIII							106	100	102					6																	52268632		2203	4300	6503	SO:0001819	synonymous_variant	85315				cell differentiation|multicellular organismal development|oogenesis	integral to membrane|plasma membrane	receptor activity|steroid binding	g.chr6:52268632C>T	AF347029	CCDS4941.1	6p12	2012-08-10	2005-05-20	2005-05-20	ENSG00000170915	ENSG00000170915			15708	protein-coding gene	gene with protein product		607780	"chromosome 6 open reading frame 33"	C6orf33		11676489, 12574519	Standard	NM_133367		Approved	LMPB1, MPRB	uc003pao.4	Q8TEZ7	OTTHUMG00000014846	ENST00000442253.2:c.621C>T	6.37:g.52268632C>T						PAQR8_ENST00000360726.3_Silent_p.V207V	p.V207V	NM_133367.4	NP_588608.1	Q8TEZ7	MPRB_HUMAN			2	795	+	Lung NSC(77;0.0875)		207					B2RCF6|Q86WL0|Q8N6D3|Q9HD02	Silent	SNP	ENST00000442253.2	37	c.621C>T	CCDS4941.1																																																																																				0.547	PAQR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040903.2	NM_133367		5	83	0	0	0	1	0	5	83					T	52268632	C	T	52268632	2	4	144	1	0	0	0	0	0	0	0	1	11441	813	29	3		3	PAQR8	6	52268632	Silent	SNP	C	TCGA-FC-A5OB-01A-11D-A29Q-08	52	52268632	118846435	12	7190			1	19		5	5	310	C		1.978634e-15
PAQR8	85315	broad.mit.edu	37	chr6	52268717	52268717	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cacaccgtgtggcgctctgtCacctggctggctgccaggag	5	8	14	14	2	2	0	1	0	1	0	2	1	2	1	3	4	1	3	3	4	0	0	rs200866188		TCGA-FC-A5OB-01A-11D-A29Q-08	TCGA-FC-A5OB-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcaa1a41-14fc-43fa-b8d5-fe4b38c53b26	13d967a8-324f-4f11-a766-db89703af761	g.chr6:52268717C>T	ENST00000442253.2	+	2	880	c.706C>T	c.(706-708)Cac>Tac	p.H236Y	PAQR8_ENST00000360726.3_Missense_Mutation_p.H236Y	NM_133367.4	NP_588608.1	Q8TEZ7	MPRB_HUMAN	progestin and adipoQ receptor family member VIII	236					multicellular organismal development (GO:0007275)|oogenesis (GO:0048477)|response to steroid hormone (GO:0048545)|steroid hormone mediated signaling pathway (GO:0043401)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)			endometrium(1)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|skin(1)|urinary_tract(2)	17	Lung NSC(77;0.0875)					GGCGCTCTGTCACCTGGCTGG	0.567													C|||	1	0.000199681	0	0	5008	,	,		21617	0		0.001	False		,,,				2504	0					ENST00000442253.2																			0				endometrium(1)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|skin(1)|urinary_tract(2)	17						c.(706-708)Cac>Tac		progestin and adipoQ receptor family member VIII		C	TYR/HIS	0,4406		0,0,2203	89	85	86		706	5.5	1	6		86	2,8598	2.2+/-6.3	0,2,4298	yes	missense	PAQR8	NM_133367.4	83	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	benign	236/355	52268717	2,13004	2203	4300	6503	SO:0001583	missense	85315				cell differentiation|multicellular organismal development|oogenesis	integral to membrane|plasma membrane	receptor activity|steroid binding	g.chr6:52268717C>T	AF347029	CCDS4941.1	6p12	2012-08-10	2005-05-20	2005-05-20	ENSG00000170915	ENSG00000170915			15708	protein-coding gene	gene with protein product		607780	"chromosome 6 open reading frame 33"	C6orf33		11676489, 12574519	Standard	NM_133367		Approved	LMPB1, MPRB	uc003pao.4	Q8TEZ7	OTTHUMG00000014846	ENST00000442253.2:c.706C>T	6.37:g.52268717C>T	ENSP00000406197:p.His236Tyr					PAQR8_ENST00000360726.3_Missense_Mutation_p.H236Y	p.H236Y	NM_133367.4	NP_588608.1	Q8TEZ7	MPRB_HUMAN			2	880	+	Lung NSC(77;0.0875)		236					B2RCF6|Q86WL0|Q8N6D3|Q9HD02	Missense_Mutation	SNP	ENST00000442253.2	37	c.706C>T	CCDS4941.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	4.168	0.029677	0.08101	0.0	2.33E-4	ENSG00000170915	ENST00000442253;ENST00000360726	T;T	0.30182	1.54;1.54	5.54	5.54	0.83059	.	0.209909	0.42682	D	0.000662	T	0.15089	0.0364	L	0.36672	1.1	0.45295	D	0.99829	B	0.14438	0.01	B	0.18871	0.023	T	0.04664	-1.0935	9	.	.	.	-12.9109	18.4725	0.90779	0.0:1.0:0.0:0.0	.	236	Q8TEZ7	MPRB_HUMAN	Y	236	ENSP00000406197:H236Y;ENSP00000353953:H236Y	.	H	+	1	0	PAQR8	52376676	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.646000	0.61411	2.610000	0.88304	0.655000	0.94253	CAC		0.567	PAQR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040903.2	NM_133367		5	63	0	0	0	1	0	5	63					T	52268717	C	T	52268717	3	4	144	1	0	0	0	0	1	0	0	0	11441	826	29	3	708	3	PAQR8	6	52268717	Missense_Mutation	SNP	C	TCGA-FC-A5OB-01A-11D-A29Q-08	85	52268717	118846350	13	7191			1	19		5	5	310	C		1.978634e-15
PAQR8	85315	broad.mit.edu	37	chr6	52268842	52268842	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcccgggttcctgtgacatCgtgggccatgggcatcagat	6	11	13	11	2	1	2	1	1	0	1	4	2	3	2	3	3	0	2	3	3	0	2	rs34615735	byFrequency	TCGA-FC-A5OB-01A-11D-A29Q-08	TCGA-FC-A5OB-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcaa1a41-14fc-43fa-b8d5-fe4b38c53b26	13d967a8-324f-4f11-a766-db89703af761	g.chr6:52268842C>A	ENST00000442253.2	+	2	1005	c.831C>A	c.(829-831)atC>atA	p.I277I	PAQR8_ENST00000360726.3_Silent_p.I277I	NM_133367.4	NP_588608.1	Q8TEZ7	MPRB_HUMAN	progestin and adipoQ receptor family member VIII	277					multicellular organismal development (GO:0007275)|oogenesis (GO:0048477)|response to steroid hormone (GO:0048545)|steroid hormone mediated signaling pathway (GO:0043401)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)			endometrium(1)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|skin(1)|urinary_tract(2)	17	Lung NSC(77;0.0875)					CCTGTGACATCGTGGGCCATG	0.572																																						ENST00000442253.2																			0				endometrium(1)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|skin(1)|urinary_tract(2)	17						c.(829-831)atC>atA		progestin and adipoQ receptor family member VIII							119	108	112					6																	52268842		2203	4300	6503	SO:0001819	synonymous_variant	85315				cell differentiation|multicellular organismal development|oogenesis	integral to membrane|plasma membrane	receptor activity|steroid binding	g.chr6:52268842C>A	AF347029	CCDS4941.1	6p12	2012-08-10	2005-05-20	2005-05-20	ENSG00000170915	ENSG00000170915			15708	protein-coding gene	gene with protein product		607780	"chromosome 6 open reading frame 33"	C6orf33		11676489, 12574519	Standard	NM_133367		Approved	LMPB1, MPRB	uc003pao.4	Q8TEZ7	OTTHUMG00000014846	ENST00000442253.2:c.831C>A	6.37:g.52268842C>A						PAQR8_ENST00000360726.3_Silent_p.I277I	p.I277I	NM_133367.4	NP_588608.1	Q8TEZ7	MPRB_HUMAN			2	1005	+	Lung NSC(77;0.0875)		277					B2RCF6|Q86WL0|Q8N6D3|Q9HD02	Silent	SNP	ENST00000442253.2	37	c.831C>A	CCDS4941.1																																																																																				0.572	PAQR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040903.2	NM_133367		5	68	1	0	0.217242	1	0.217242	5	68					A	52268842	C	A	52268842	2	1	144	1	0	0	0	0	0	0	0	1	11441	874	31	5		5	PAQR8	6	52268842	Silent	SNP	C	TCGA-FC-A5OB-01A-11D-A29Q-08	125	52268842	118846225	14	7192			1	19		5	5	310	C		1.978634e-15
PAQR8	85315	broad.mit.edu	37	chr6	52268889	52268889	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgcatttctgtccatctgtaCgctctcccagctggaggcca	6	12	9	14	1	3	0	0	0	3	0	5	1	4	1	3	2	3	4	3	2	1	2			TCGA-FC-A5OB-01A-11D-A29Q-08	TCGA-FC-A5OB-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcaa1a41-14fc-43fa-b8d5-fe4b38c53b26	13d967a8-324f-4f11-a766-db89703af761	g.chr6:52268889C>T	ENST00000442253.2	+	2	1052	c.878C>T	c.(877-879)aCg>aTg	p.T293M	PAQR8_ENST00000360726.3_Missense_Mutation_p.T293M	NM_133367.4	NP_588608.1	Q8TEZ7	MPRB_HUMAN	progestin and adipoQ receptor family member VIII	293					multicellular organismal development (GO:0007275)|oogenesis (GO:0048477)|response to steroid hormone (GO:0048545)|steroid hormone mediated signaling pathway (GO:0043401)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)			endometrium(1)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|skin(1)|urinary_tract(2)	17	Lung NSC(77;0.0875)					TCCATCTGTACGCTCTCCCAG	0.587																																						ENST00000442253.2																			0				endometrium(1)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|skin(1)|urinary_tract(2)	17						c.(877-879)aCg>aTg		progestin and adipoQ receptor family member VIII							89	84	86					6																	52268889		2203	4300	6503	SO:0001583	missense	85315				cell differentiation|multicellular organismal development|oogenesis	integral to membrane|plasma membrane	receptor activity|steroid binding	g.chr6:52268889C>T	AF347029	CCDS4941.1	6p12	2012-08-10	2005-05-20	2005-05-20	ENSG00000170915	ENSG00000170915			15708	protein-coding gene	gene with protein product		607780	"chromosome 6 open reading frame 33"	C6orf33		11676489, 12574519	Standard	NM_133367		Approved	LMPB1, MPRB	uc003pao.4	Q8TEZ7	OTTHUMG00000014846	ENST00000442253.2:c.878C>T	6.37:g.52268889C>T	ENSP00000406197:p.Thr293Met					PAQR8_ENST00000360726.3_Missense_Mutation_p.T293M	p.T293M	NM_133367.4	NP_588608.1	Q8TEZ7	MPRB_HUMAN			2	1052	+	Lung NSC(77;0.0875)		293					B2RCF6|Q86WL0|Q8N6D3|Q9HD02	Missense_Mutation	SNP	ENST00000442253.2	37	c.878C>T	CCDS4941.1	.	.	.	.	.	.	.	.	.	.	C	24.1	4.493186	0.84962	.	.	ENSG00000170915	ENST00000442253;ENST00000360726	T;T	0.32515	1.45;1.45	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	T	0.56906	0.2017	M	0.87682	2.9	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.61652	-0.7019	9	.	.	.	-10.1123	18.6884	0.91574	0.0:1.0:0.0:0.0	.	293	Q8TEZ7	MPRB_HUMAN	M	293	ENSP00000406197:T293M;ENSP00000353953:T293M	.	T	+	2	0	PAQR8	52376848	1.000000	0.71417	0.996000	0.52242	0.975000	0.68041	7.818000	0.86416	2.657000	0.90304	0.655000	0.94253	ACG		0.587	PAQR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040903.2	NM_133367		5	56	0	0	0	1	0	5	56					T	52268889	C	T	52268889	3	4	144	1	0	0	0	0	1	0	0	0	11441	536	19	1	880	1	PAQR8	6	52268889	Missense_Mutation	SNP	C	TCGA-FC-A5OB-01A-11D-A29Q-08	47	52268889	118846178	15	7193			1	19		5	5	310	C		1.978634e-15
TINAG	27283	broad.mit.edu	37	chr6	54186159	54186159	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgttcgttcagaattaattGaacaggtcaataaaggagac	15	12	9	5	1	2	3	2	1	0	2	3	4	2	3	0	2	1	2	0	2	6	6	rs554215844		TCGA-FC-A5OB-01A-11D-A29Q-08	TCGA-FC-A5OB-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcaa1a41-14fc-43fa-b8d5-fe4b38c53b26	13d967a8-324f-4f11-a766-db89703af761	g.chr6:54186159G>T	ENST00000259782.4	+	3	580	c.484G>T	c.(484-486)Gaa>Taa	p.E162*	TINAG_ENST00000370864.3_Nonsense_Mutation_p.E144*|TINAG_ENST00000486436.1_3'UTR|TINAG_ENST00000370869.3_Nonsense_Mutation_p.E158*	NM_014464.3	NP_055279.3	Q9UJW2	TINAG_HUMAN	tubulointerstitial nephritis antigen	162					cell adhesion (GO:0007155)|immune response (GO:0006955)	basement membrane (GO:0005604)	cysteine-type endopeptidase activity (GO:0004197)|nucleotide binding (GO:0000166)|polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(1)	34	Lung NSC(77;0.0518)		LUSC - Lung squamous cell carcinoma(124;0.246)			AGAATTAATTGAACAGGTCAA	0.398																																						ENST00000259782.4																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(1)	34						c.(484-486)Gaa>Taa		tubulointerstitial nephritis antigen							127	117	120					6																	54186159		2203	4300	6503	SO:0001587	stop_gained	27283				cell adhesion|immune response|Malpighian tubule morphogenesis|proteolysis	basement membrane	cysteine-type endopeptidase activity|nucleotide binding|polysaccharide binding|scavenger receptor activity	g.chr6:54186159G>T	AB022277	CCDS4955.1	6p12.1	2008-05-15			ENSG00000137251	ENSG00000137251			14599	protein-coding gene	gene with protein product		606749				10652240	Standard	NM_014464		Approved		uc003pcj.2	Q9UJW2	OTTHUMG00000014893	ENST00000259782.4:c.484G>T	6.37:g.54186159G>T	ENSP00000259782:p.Glu162*					TINAG_ENST00000486436.1_3'UTR|TINAG_ENST00000370869.3_Nonsense_Mutation_p.E158*|TINAG_ENST00000370864.3_Nonsense_Mutation_p.E144*	p.E162*	NM_014464.3	NP_055279.3	Q9UJW2	TINAG_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.246)		3	580	+	Lung NSC(77;0.0518)		162					Q5T467|Q9UJW1|Q9ULZ4	Nonsense_Mutation	SNP	ENST00000259782.4	37	c.484G>T	CCDS4955.1	.	.	.	.	.	.	.	.	.	.	G	28.3	4.911640	0.92178	.	.	ENSG00000137251	ENST00000370869;ENST00000259782;ENST00000370864	.	.	.	5.79	4.87	0.63330	.	0.513205	0.19729	N	0.107396	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.12430	T	0.62	.	11.9948	0.53196	0.0:0.1738:0.8261:0.0	.	.	.	.	X	158;162;144	.	ENSP00000259782:E162X	E	+	1	0	TINAG	54294118	1.000000	0.71417	0.954000	0.39281	0.763000	0.43281	2.240000	0.43088	2.727000	0.93392	0.563000	0.77884	GAA		0.398	TINAG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040984.1	NM_014464		3	32	1	0	0.00909568	1	0.00938909	3	32					T	54186159	G	T	54186159	4	4	144	1	0	0	0	0	0	1	0	0	15918	1291	45	5	494	5	TINAG	6	54186159	Nonsense_Mutation	SNP	G	TCGA-FC-A5OB-01A-11D-A29Q-08	1917270	54186159	116928908	16	7194											
PTPN12	5782	broad.mit.edu	37	chr7	77221501	77221502	+	Splice_Site	INS	-	-	A																															tttttttttttggatgacagINSaaaaaatgtgagcgctattg																										TCGA-FC-A5OB-01A-11D-A29Q-08	TCGA-FC-A5OB-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcaa1a41-14fc-43fa-b8d5-fe4b38c53b26	13d967a8-324f-4f11-a766-db89703af761	g.chr7:77221501_77221502insA	ENST00000248594.6	+	6	692_693		c.e6-1		PTPN12_ENST00000415482.2_Splice_Site|PTPN12_ENST00000435495.2_Splice_Site	NM_002835.3	NP_002826.3	Q05209	PTN12_HUMAN	protein tyrosine phosphatase, non-receptor type 12						protein dephosphorylation (GO:0006470)|tissue regeneration (GO:0042246)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)|podosome (GO:0002102)	non-membrane spanning protein tyrosine phosphatase activity (GO:0004726)|SH3 domain binding (GO:0017124)			breast(2)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(12)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	39						TTGGATGACAGAAAAAATGTGA	0.317																																						ENST00000248594.6																			0				breast(2)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(12)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	39						c.e6-1		protein tyrosine phosphatase, non-receptor type 12																																				SO:0001630	splice_region_variant	0					soluble fraction	non-membrane spanning protein tyrosine phosphatase activity|SH3 domain binding	g.chr7:77221501_77221502insA		CCDS5592.1, CCDS47619.1, CCDS47620.1	7q11.23	2011-06-09			ENSG00000127947	ENSG00000127947		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"	9645	protein-coding gene	gene with protein product		600079				7509295	Standard	NM_002835		Approved	PTPG1, PTP-PEST	uc003ugh.2	Q05209	OTTHUMG00000023501	ENST00000248594.6:c.421-1->A	7.37:g.77221507_77221507dupA						PTPN12_ENST00000435495.2_Splice_Site|PTPN12_ENST00000415482.2_Splice_Site		NM_002835.3	NP_002826.3	Q05209	PTN12_HUMAN			6	692_693	+								A4D1C5|B4DKY2|E9PBR5|E9PEH9|Q16130|Q59FD6|Q75MN8|Q86XU4	Splice_Site	INS	ENST00000248594.6	37		CCDS5592.1																																																																																				0.317	PTPN12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253183.3		Intron	27	53						27	53	---	---	---	---	A	77221502	-	A	77221501	8	5	144	1	0	1	1	0	0	0	1	0	12781	956	33	0	442	0	PTPN12	7	77221501	Splice_Site	INS	-	TCGA-FC-A5OB-01A-11D-A29Q-08		77221501	81917162	17	7195											
OR2AE1	81392	broad.mit.edu	37	chr7	99474462	99474462	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atcagatccatgagggagagCtggctgagcaggaaatacat	14	7	13	7	0	1	4	1	2	0	2	2	6	2	5	1	3	3	3	1	3	2	1			TCGA-FC-A5OB-01A-11D-A29Q-08	TCGA-FC-A5OB-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcaa1a41-14fc-43fa-b8d5-fe4b38c53b26	13d967a8-324f-4f11-a766-db89703af761	g.chr7:99474462C>T	ENST00000316368.2	-	1	218	c.195G>A	c.(193-195)caG>caA	p.Q65Q		NM_001005276.1	NP_001005276.1	Q8NHA4	O2AE1_HUMAN	olfactory receptor, family 2, subfamily AE, member 1	65						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|prostate(2)	11	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)					TGAGGGAGAGCTGGCTGAGCA	0.488																																						ENST00000316368.2																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|prostate(2)	11						c.(193-195)caG>caA		olfactory receptor, family 2, subfamily AE, member 1							102	89	94					7																	99474462		2203	4300	6503	SO:0001819	synonymous_variant	81392				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr7:99474462C>T	AC011904	CCDS34696.1	7q22.1	2014-02-19	2002-02-28		ENSG00000244623	ENSG00000244623		"GPCR / Class A : Olfactory receptors"	15087	protein-coding gene	gene with protein product			"olfactory receptor, family 2, subfamily AE, member 2"	OR2AE2			Standard	NM_001005276		Approved		uc003usc.1	Q8NHA4	OTTHUMG00000156650	ENST00000316368.2:c.195G>A	7.37:g.99474462C>T							p.Q65Q	NM_001005276.1	NP_001005276.1	Q8NHA4	O2AE1_HUMAN			1	218	-	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)		65					B2RPD2	Silent	SNP	ENST00000316368.2	37	c.195G>A	CCDS34696.1																																																																																				0.488	OR2AE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345053.1			26	37	0	0	0	1	0	26	37					T	99474462	C	T	99474462	2	4	144	1	0	0	0	0	0	0	0	1	10983	796	28	3		3	OR2AE1	7	99474462	Silent	SNP	C	TCGA-FC-A5OB-01A-11D-A29Q-08	22252961	99474462	59664201	18	7196											
TSGA13	114960	broad.mit.edu	37	chr7	130357704	130357704	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gttctcagtgggtttgtgctGatgatgactttcctgtaggg	5	16	14	6	0	1	3	1	3	1	0	3	3	2	3	1	2	1	4	1	2	1	4			TCGA-FC-A5OB-01A-11D-A29Q-08	TCGA-FC-A5OB-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcaa1a41-14fc-43fa-b8d5-fe4b38c53b26	13d967a8-324f-4f11-a766-db89703af761	g.chr7:130357704G>A	ENST00000456951.1	-	7	1251	c.400C>T	c.(400-402)Cag>Tag	p.Q134*	TSGA13_ENST00000356588.3_Nonsense_Mutation_p.Q134*			Q96PP4	TSG13_HUMAN	testis specific, 13	134										endometrium(1)|kidney(3)|large_intestine(3)|lung(6)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	18	Melanoma(18;0.0435)					GGTTTGTGCTGATGATGACTT	0.463																																						ENST00000456951.1																			0				endometrium(1)|kidney(3)|large_intestine(3)|lung(6)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	18						c.(400-402)Cag>Tag		testis specific, 13							107	100	102					7																	130357704		2203	4300	6503	SO:0001587	stop_gained	114960							g.chr7:130357704G>A	AK093329	CCDS5824.1	7q32	2008-02-04			ENSG00000213265	ENSG00000213265			12369	protein-coding gene	gene with protein product							Standard	NM_052933		Approved		uc003vqi.3	Q96PP4	OTTHUMG00000154999	ENST00000456951.1:c.400C>T	7.37:g.130357704G>A	ENSP00000406047:p.Gln134*					TSGA13_ENST00000356588.3_Nonsense_Mutation_p.Q134*	p.Q134*			Q96PP4	TSG13_HUMAN			7	1251	-	Melanoma(18;0.0435)		134					B3KSC9	Nonsense_Mutation	SNP	ENST00000456951.1	37	c.400C>T	CCDS5824.1	.	.	.	.	.	.	.	.	.	.	G	36	5.857781	0.97036	.	.	ENSG00000213265	ENST00000456951;ENST00000418126;ENST00000356588	.	.	.	5.12	4.23	0.50019	.	1.498440	0.04127	N	0.317232	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.28530	T	0.3	0.0662	11.2132	0.48810	0.0:0.0:0.8161:0.1839	.	.	.	.	X	134	.	ENSP00000348996:Q134X	Q	-	1	0	TSGA13	130008244	0.027000	0.19231	0.002000	0.10522	0.026000	0.11368	1.864000	0.39469	1.247000	0.43917	0.563000	0.77884	CAG		0.463	TSGA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337997.1	NM_052933		4	37	0	0	0	1	0	4	37					A	130357704	G	A	130357704	4	1	144	1	0	0	0	0	0	1	0	0	16616	1299	45	3	439	3	TSGA13	7	130357704	Nonsense_Mutation	SNP	G	TCGA-FC-A5OB-01A-11D-A29Q-08	30883242	130357704	28780959	19	7197											
GLIS3	169792	broad.mit.edu	37	chr9	3828281	3828281	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caagagagcttttagccttcGgtgtagacagaggagagctg	11	9	14	7	1	0	4	0	0	0	4	1	6	0	4	1	2	3	3	1	2	3	4			TCGA-FC-A5OB-01A-11D-A29Q-08	TCGA-FC-A5OB-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcaa1a41-14fc-43fa-b8d5-fe4b38c53b26	13d967a8-324f-4f11-a766-db89703af761	g.chr9:3828281G>A	ENST00000324333.10	-	10	2512	c.2319C>T	c.(2317-2319)acC>acT	p.T773T	GLIS3_ENST00000381971.3_Silent_p.T928T|GLIS3_ENST00000461870.1_5'UTR	NM_152629.3	NP_689842.3	Q8NEA6	GLIS3_HUMAN	GLIS family zinc finger 3	773					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription from RNA polymerase II promoter (GO:0006366)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(12)|lung(4)|ovary(2)|prostate(1)|skin(1)	26		Acute lymphoblastic leukemia(2;0.00464)|Breast(48;0.148)		Lung(2;0.00163)|GBM - Glioblastoma multiforme(50;0.00301)|LUSC - Lung squamous cell carcinoma(2;0.0148)		TTTAGCCTTCGGTGTAGACAG	0.552																																						ENST00000324333.10																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(12)|lung(4)|ovary(2)|prostate(1)|skin(1)	26						c.(2317-2319)acC>acT		GLIS family zinc finger 3							58	60	59					9																	3828281		2203	4300	6503	SO:0001819	synonymous_variant	169792				negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter		DNA binding|zinc ion binding	g.chr9:3828281G>A	BC033899	CCDS6451.1, CCDS43784.1	9p24.2	2008-05-02	2004-07-16	2004-07-16	ENSG00000107249	ENSG00000107249		"Zinc fingers, C2H2-type"	28510	protein-coding gene	gene with protein product		610192	"zinc finger protein 515"	ZNF515		14500813	Standard	NM_152629		Approved	MGC33662	uc003zhx.1	Q8NEA6	OTTHUMG00000019463	ENST00000324333.10:c.2319C>T	9.37:g.3828281G>A						GLIS3_ENST00000461870.1_5'UTR|GLIS3_ENST00000381971.3_Silent_p.T928T	p.T773T	NM_152629.3	NP_689842.3	Q8NEA6	GLIS3_HUMAN		Lung(2;0.00163)|GBM - Glioblastoma multiforme(50;0.00301)|LUSC - Lung squamous cell carcinoma(2;0.0148)	10	2512	-		Acute lymphoblastic leukemia(2;0.00464)|Breast(48;0.148)	773					B1AL19|Q1PHK5	Silent	SNP	ENST00000324333.10	37	c.2319C>T	CCDS6451.1																																																																																				0.552	GLIS3-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000051559.1	NM_152629		3	56	0	0	0	1	0	3	56					A	3828281	G	A	3828281	2	1	144	1	0	0	0	0	0	0	0	1	6447	1103	39	2		2	GLIS3	9	3828281	Silent	SNP	G	TCGA-FC-A5OB-01A-11D-A29Q-08		3828281	137385150	20	7198											
BARHL1	56751	broad.mit.edu	37	chr9	135458234	135458234	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccattctctcccaccgcgCgggcagccccgcccttccca	4	7	7	23	4	1	0	0	0	1	0	5	0	4	0	7	1	1	1	7	1	0	2	rs141976331		TCGA-FC-A5OB-01A-11D-A29Q-08	TCGA-FC-A5OB-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcaa1a41-14fc-43fa-b8d5-fe4b38c53b26	13d967a8-324f-4f11-a766-db89703af761	g.chr9:135458234C>T	ENST00000263610.2	+	1	663	c.50C>T	c.(49-51)gCg>gTg	p.A17V	BARHL1_ENST00000542090.1_Missense_Mutation_p.A17V	NM_020064.3	NP_064448.1	Q9BZE3	BARH1_HUMAN	BarH-like homeobox 1	17					midbrain development (GO:0030901)|negative regulation of neuron apoptotic process (GO:0043524)|neuron migration (GO:0001764)|sensory perception of sound (GO:0007605)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)			cervix(1)|large_intestine(2)|lung(2)|skin(3)	8				OV - Ovarian serous cystadenocarcinoma(145;1.79e-06)|Epithelial(140;3.12e-05)		TCCCACCGCGCGGGCAGCCCC	0.662													C|||	1	0.000199681	0	0	5008	,	,		11133	0		0.001	False		,,,				2504	0					ENST00000263610.2																			0				cervix(1)|large_intestine(2)|lung(2)|skin(3)	8						c.(49-51)gCg>gTg		BarH-like homeobox 1		C	VAL/ALA	0,4406		0,0,2203	53	57	55		50	4.1	1	9	dbSNP_134	55	4,8596	4.3+/-15.6	0,4,4296	yes	missense	BARHL1	NM_020064.3	64	0,4,6499	TT,TC,CC		0.0465,0.0,0.0308	benign	17/328	135458234	4,13002	2203	4300	6503	SO:0001583	missense	56751					nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr9:135458234C>T	AJ237816	CCDS6950.1	9q34.13	2011-06-20	2007-07-09		ENSG00000125492	ENSG00000125492		"Homeoboxes / ANTP class : NKL subclass"	953	protein-coding gene	gene with protein product		605211	"BarH (Drosophila)-like 1"				Standard	NM_020064		Approved		uc004cbp.1	Q9BZE3	OTTHUMG00000020839	ENST00000263610.2:c.50C>T	9.37:g.135458234C>T	ENSP00000263610:p.Ala17Val					BARHL1_ENST00000542090.1_Missense_Mutation_p.A17V	p.A17V	NM_020064.3	NP_064448.1	Q9BZE3	BARH1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.79e-06)|Epithelial(140;3.12e-05)	1	663	+			17					Q5T6V2|Q9NY88	Missense_Mutation	SNP	ENST00000263610.2	37	c.50C>T	CCDS6950.1	3	0.0013736263736263737	2	0.0040650406504065045	0	0.0	0	0.0	1	0.0013192612137203166	C	15.23	2.773221	0.49680	0.0	4.65E-4	ENSG00000125492	ENST00000263610;ENST00000542090	D;D	0.91011	-2.77;-2.77	4.1	4.1	0.47936	.	0.064266	0.64402	D	0.000008	D	0.82356	0.5019	N	0.14661	0.345	0.44587	D	0.997555	B	0.17852	0.024	B	0.08055	0.003	T	0.78463	-0.2194	10	0.37606	T	0.19	.	15.0759	0.72077	0.0:1.0:0.0:0.0	.	17	Q9BZE3	BARH1_HUMAN	V	17	ENSP00000263610:A17V;ENSP00000444704:A17V	ENSP00000263610:A17V	A	+	2	0	BARHL1	134448055	1.000000	0.71417	0.981000	0.43875	0.996000	0.88848	5.135000	0.64777	2.109000	0.64355	0.549000	0.68633	GCG		0.662	BARHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054789.2			4	107	0	0	0	1	0	4	107					T	135458234	C	T	135458234	3	4	144	1	0	0	0	0	1	0	0	0	1313	768	27	1	52	1	BARHL1	9	135458234	Missense_Mutation	SNP	C	TCGA-FC-A5OB-01A-11D-A29Q-08	131629953	135458234	5755197	21	7199											
CAMSAP1	157922	broad.mit.edu	37	chr9	138714198	138714198	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgtcctcctgcagtttggccGactcttcctccccaatgtat	5	14	7	15	1	1	0	0	0	1	0	5	1	5	0	6	1	1	3	6	1	2	3			TCGA-FC-A5OB-01A-11D-A29Q-08	TCGA-FC-A5OB-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcaa1a41-14fc-43fa-b8d5-fe4b38c53b26	13d967a8-324f-4f11-a766-db89703af761	g.chr9:138714198G>A	ENST00000389532.4	-	11	2373	c.2309C>T	c.(2308-2310)tCg>tTg	p.S770L	CAMSAP1_ENST00000409386.3_Missense_Mutation_p.S781L|CAMSAP1_ENST00000483991.1_5'UTR|CAMSAP1_ENST00000312405.6_Missense_Mutation_p.S492L	NM_015447.3	NP_056262.3	Q5T5Y3	CAMP1_HUMAN	calmodulin regulated spectrin-associated protein 1	770					cytoskeleton organization (GO:0007010)|neuron projection development (GO:0031175)|regulation of cell morphogenesis (GO:0022604)	cytoplasm (GO:0005737)|microtubule (GO:0005874)	calmodulin binding (GO:0005516)|microtubule binding (GO:0008017)|spectrin binding (GO:0030507)			breast(3)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(11)|lung(16)|ovary(3)|pancreas(1)|skin(1)	47				OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05)		CAGTTTGGCCGACTCTTCCTC	0.557																																						ENST00000389532.4																			0				breast(3)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(11)|lung(16)|ovary(3)|pancreas(1)|skin(1)	47						c.(2308-2310)tCg>tTg		calmodulin regulated spectrin-associated protein 1							106	114	112					9																	138714198		2203	4300	6503	SO:0001583	missense	157922					cytoplasm|microtubule		g.chr9:138714198G>A	AJ519841	CCDS35176.2	9q34.3	2008-02-05			ENSG00000130559	ENSG00000130559			19946	protein-coding gene	gene with protein product		613774				12477932	Standard	NM_015447		Approved	FLJ31228, DKFZp434F195	uc004cgr.4	Q5T5Y3	OTTHUMG00000020918	ENST00000389532.4:c.2309C>T	9.37:g.138714198G>A	ENSP00000374183:p.Ser770Leu					CAMSAP1_ENST00000483991.1_5'UTR|CAMSAP1_ENST00000409386.3_Missense_Mutation_p.S781L|CAMSAP1_ENST00000312405.6_Missense_Mutation_p.S492L	p.S770L	NM_015447.3	NP_056262.3	Q5T5Y3	CAMP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05)	11	2373	-			770					A1L4L2|B2REB2|B2REB3|Q70W33|Q8NCY0|Q96E80|Q96FM3|Q9UFJ5	Missense_Mutation	SNP	ENST00000389532.4	37	c.2309C>T	CCDS35176.2	.	.	.	.	.	.	.	.	.	.	G	19.42	3.823361	0.71143	.	.	ENSG00000130559	ENST00000389532;ENST00000312405;ENST00000409386	T;T;T	0.22743	1.97;1.94;1.97	5.14	5.14	0.70334	.	0.000000	0.85682	D	0.000000	T	0.51534	0.1680	M	0.81239	2.535	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.993	T	0.57015	-0.7883	10	0.87932	D	0	-11.6306	18.9649	0.92692	0.0:0.0:1.0:0.0	.	770;781	Q5T5Y3;Q5T5Y3-3	CAMP1_HUMAN;.	L	770;492;781	ENSP00000374183:S770L;ENSP00000312463:S492L;ENSP00000386420:S781L	ENSP00000312463:S492L	S	-	2	0	CAMSAP1	137854019	1.000000	0.71417	0.994000	0.49952	0.074000	0.17049	9.425000	0.97467	2.553000	0.86117	0.655000	0.94253	TCG		0.557	CAMSAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055024.2	XM_351857		4	153	0	0	0	1	0	4	153					A	138714198	G	A	138714198	3	1	144	1	0	0	0	0	1	0	0	0	2611	1059	37	2	2527	2	CAMSAP1	9	138714198	Missense_Mutation	SNP	G	TCGA-FC-A5OB-01A-11D-A29Q-08	3255964	138714198	2499233	22	7200											
AGAP11	119385	broad.mit.edu	37	chr10	88768854	88768854	+	RNA	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tatgattgtgtccgtcactgGccaaacgtgccactttaaag	10	12	9	10	2	1	1	1	1	0	0	2	1	2	1	3	1	2	0	3	1	4	4			TCGA-FC-A5OB-01A-11D-A29Q-08	TCGA-FC-A5OB-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcaa1a41-14fc-43fa-b8d5-fe4b38c53b26	13d967a8-324f-4f11-a766-db89703af761	g.chr10:88768854G>A	ENST00000444431.1	+	0	3454				RP11-96C23.10_ENST00000451760.1_RNA|RP11-96C23.14_ENST00000444180.3_RNA|RP11-96C23.5_ENST00000433214.2_RNA			Q8TF27	AGA11_HUMAN	ankyrin repeat and GTPase domain Arf GTPase activating protein 11						regulation of ARF GTPase activity (GO:0032312)		ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)										TCCGTCACTGGCCAAACGTGC	0.507																																						ENST00000444431.1																			0													ankyrin repeat and GTPase domain Arf GTPase activating protein 11							104	113	110					10																	88768854		2203	4300	6503			119385				regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding	g.chr10:88768854G>A			10q23.2	2013-01-11			ENSG00000151303	ENSG00000151303		"ADP-ribosylation factor GTPase activating proteins", "Ankyrin repeat domain containing"	29421	protein-coding gene	gene with protein product						11853319	Standard	NM_133447		Approved	KIAA1975	uc001kee.2	Q8TF27	OTTHUMG00000018667		10.37:g.88768854G>A						RP11-96C23.14_ENST00000444180.3_RNA|RP11-96C23.5_ENST00000433214.2_RNA				Q8TF27	AGA11_HUMAN			0	3454	+								B9EIP7|D3DWE4	RNA	SNP	ENST00000444431.1	37																																																																																						0.507	AGAP11-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000049193.1	NM_133447		5	194	0	0	0	1	0	5	194					A	88768854	G	A	88768854	1	1	144	0	1	0	0	0	0	0	0	0	367	1203	42	3		3	AGAP11	10	88768854	RNA	SNP	G	TCGA-FC-A5OB-01A-11D-A29Q-08		88768854	46765893	23	7201											
FAT3	120114	broad.mit.edu	37	chr11	92577146	92577146	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtttctcacacttacatccGcgtgcgagtcattgaggaaa	11	11	9	10	3	2	1	2	1	1	0	4	3	3	2	1	1	2	1	1	1	2	3			TCGA-FC-A5OB-01A-11D-A29Q-08	TCGA-FC-A5OB-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcaa1a41-14fc-43fa-b8d5-fe4b38c53b26	13d967a8-324f-4f11-a766-db89703af761	g.chr11:92577146G>A	ENST00000298047.6	+	18	10630	c.10613G>A	c.(10612-10614)cGc>cAc	p.R3538H	FAT3_ENST00000409404.2_Missense_Mutation_p.R3538H|FAT3_ENST00000533797.1_5'Flank|FAT3_ENST00000525166.1_Missense_Mutation_p.R3388H			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	3538	Cadherin 32. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				ACTTACATCCGCGTGCGAGTC	0.468										TCGA Ovarian(4;0.039)																												ENST00000298047.6																			0				NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85						c.(10612-10614)cGc>cAc		FAT atypical cadherin 3							169	165	166					11																	92577146		1935	4142	6077	SO:0001583	missense	120114				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr11:92577146G>A	AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"Cadherins / Cadherin-related"	23112	protein-coding gene	gene with protein product	"cadherin-related family member 10"	612483	"FAT tumor suppressor homolog 3 (Drosophila)"			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.10613G>A	11.37:g.92577146G>A	ENSP00000298047:p.Arg3538His	TCGA Ovarian(4;0.039)				FAT3_ENST00000525166.1_Missense_Mutation_p.R3388H|FAT3_ENST00000409404.2_Missense_Mutation_p.R3538H	p.R3538H			Q8TDW7	FAT3_HUMAN			18	10630	+		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)	3538			Cadherin 32.		B5MDB0|Q96AU6	Missense_Mutation	SNP	ENST00000298047.6	37	c.10613G>A		.	.	.	.	.	.	.	.	.	.	G	4.008	-0.001180	0.07819	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000525166	T;T;T	0.07800	3.16;3.16;3.16	5.62	1.7	0.24286	.	.	.	.	.	T	0.04048	0.0113	N	0.05510	-0.035	0.33044	D	0.53182	B	0.09022	0.002	B	0.06405	0.002	T	0.28933	-1.0028	9	0.31617	T	0.26	.	7.2209	0.25985	0.5237:0.0:0.4763:0.0	.	3538	Q8TDW7-3	.	H	3538;3538;3388	ENSP00000298047:R3538H;ENSP00000387040:R3538H;ENSP00000432586:R3388H	ENSP00000298047:R3538H	R	+	2	0	FAT3	92216794	0.260000	0.24053	0.100000	0.21137	0.179000	0.23085	1.490000	0.35573	0.332000	0.23536	-0.254000	0.11334	CGC		0.468	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781		10	237	0	0	0	1	0	10	237					A	92577146	G	A	92577146	3	1	144	1	0	0	0	0	1	0	0	0	5691	1087	38	1	10683	1	FAT3	11	92577146	Missense_Mutation	SNP	G	TCGA-FC-A5OB-01A-11D-A29Q-08		92577146	42429370	24	7202											
VWA5A	4013	broad.mit.edu	37	chr11	124016065	124016065	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtggcctggatgcgtgcccAtgcaggtaggagcacaatcc	8	7	14	12	2	0	0	0	0	0	0	1	2	1	2	3	4	4	3	3	4	2	1	rs200614108		TCGA-FC-A5OB-01A-11D-A29Q-08	TCGA-FC-A5OB-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcaa1a41-14fc-43fa-b8d5-fe4b38c53b26	13d967a8-324f-4f11-a766-db89703af761	g.chr11:124016065A>G	ENST00000456829.2	+	18	2527	c.2276A>G	c.(2275-2277)cAt>cGt	p.H759R	VWA5A_ENST00000360334.4_3'UTR|VWA5A_ENST00000392748.1_Missense_Mutation_p.H759R	NM_001130142.1	NP_001123614.1	O00534	VMA5A_HUMAN	von Willebrand factor A domain containing 5A	759			H -> R. {ECO:0000269|PubMed:9417908}.					p.H759R(1)		autonomic_ganglia(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	47						ATGCGTGCCCATGCAGGTAGG	0.587																																						ENST00000456829.2																			1	Substitution - Missense(1)	p.H759R(1)	endometrium(1)	autonomic_ganglia(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	47						c.(2275-2277)cAt>cGt		von Willebrand factor A domain containing 5A		A	ARG/HIS,ARG/HIS	0,4402		0,0,2201	90	86	87		2276,2276	1	0	11		87	1,8597	1.2+/-3.3	0,1,4298	yes	missense,missense	VWA5A	NM_001130142.1,NM_014622.4	29,29	0,1,6499	GG,GA,AA		0.0116,0.0,0.0077	benign,benign	759/787,759/787	124016065	1,12999	2201	4299	6500	SO:0001583	missense	4013							g.chr11:124016065A>G	AF002672	CCDS8444.1, CCDS8445.1	11q24.1	2008-07-25	2008-07-25	2008-07-25	ENSG00000110002	ENSG00000110002			6658	protein-coding gene	gene with protein product		602929	"loss of heterozygosity, 11, chromosomal region 2, gene A"	LOH11CR2A		9417908, 14504409	Standard	NM_001130142		Approved	BCSC-1	uc001pzt.3	O00534	OTTHUMG00000165971	ENST00000456829.2:c.2276A>G	11.37:g.124016065A>G	ENSP00000407726:p.His759Arg					VWA5A_ENST00000392748.1_Missense_Mutation_p.H759R|VWA5A_ENST00000360334.4_3'UTR	p.H759R	NM_001130142.1	NP_001123614.1	O00534	VMA5A_HUMAN			18	2527	+			759		H -> R.			Q6UN19|Q6UN20|Q9BVF8	Missense_Mutation	SNP	ENST00000456829.2	37	c.2276A>G	CCDS8444.1	.	.	.	.	.	.	.	.	.	.	A	8.282	0.815718	0.16607	0.0	1.16E-4	ENSG00000110002	ENST00000456829;ENST00000392748	T;T	0.27890	1.64;1.64	4.87	1.03	0.20045	.	0.648730	0.16352	N	0.218142	T	0.19805	0.0476	L	0.43152	1.355	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.24548	-1.0157	10	0.19147	T	0.46	-4.0969	4.4868	0.11794	0.6864:0.0:0.1688:0.1448	.	759	O00534	VMA5A_HUMAN	R	759	ENSP00000407726:H759R;ENSP00000376504:H759R	ENSP00000376504:H759R	H	+	2	0	VWA5A	123521275	0.000000	0.05858	0.007000	0.13788	0.048000	0.14542	0.794000	0.26958	0.065000	0.16485	-0.256000	0.11100	CAT		0.587	VWA5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387273.1	NM_014622		33	33	0	0	0	1	0	33	33					G	124016065	A	G	124016065	3	3	144	1	0	0	0	0	1	0	0	0	17239	217	8	4	2342	4	VWA5A	11	124016065	Missense_Mutation	SNP	A	TCGA-FC-A5OB-01A-11D-A29Q-08	31438919	124016065	10990451	25	7203											
IGSF9B	22997	broad.mit.edu	37	chr11	133814172	133814172	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggtgtcatactgctggtccaGcatgagcactttgcactcat	8	12	10	11	0	2	1	2	1	0	0	3	1	3	1	1	2	5	4	1	2	1	2	rs531377479		TCGA-FC-A5OB-01A-11D-A29Q-08	TCGA-FC-A5OB-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcaa1a41-14fc-43fa-b8d5-fe4b38c53b26	13d967a8-324f-4f11-a766-db89703af761	g.chr11:133814172G>A	ENST00000321016.8	-	3	582	c.352C>T	c.(352-354)Ctg>Ttg	p.L118L	IGSF9B_ENST00000533871.2_Silent_p.L118L			Q9UPX0	TUTLB_HUMAN	immunoglobulin superfamily, member 9B	118	Ig-like 1.				homophilic cell adhesion (GO:0007156)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)	dendrite (GO:0030425)|inhibitory synapse (GO:0060077)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)				breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)		TGCTGGTCCAGCATGAGCACT	0.577																																						ENST00000321016.8																			0				breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						c.(352-354)Ctg>Ttg		immunoglobulin superfamily, member 9B							102	111	108					11																	133814172		2099	4231	6330	SO:0001819	synonymous_variant	22997					integral to membrane|plasma membrane		g.chr11:133814172G>A	AK097578	CCDS61010.1	11q25	2013-02-11	2005-10-12	2005-11-20				"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	32326	protein-coding gene	gene with protein product		613773					Standard	NM_001277285		Approved	KIAA1030	uc031qfh.1	Q9UPX0		ENST00000321016.8:c.352C>T	11.37:g.133814172G>A						IGSF9B_ENST00000533871.2_Silent_p.L118L	p.L118L			Q9UPX0	TUTLB_HUMAN		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)	3	582	-	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)	118			Ig-like 1.		G5EA26	Silent	SNP	ENST00000321016.8	37	c.352C>T																																																																																					0.577	IGSF9B-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		XM_290502		3	33	0	0	0	1	0	3	33					A	133814172	G	A	133814172	2	1	144	1	0	0	0	0	0	0	0	1	7606	962	34	3		3	IGSF9B	11	133814172	Silent	SNP	G	TCGA-FC-A5OB-01A-11D-A29Q-08	9798107	133814172	1192344	26	7204											
NACA	4666	broad.mit.edu	37	chr12	57112272	57112272	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cctttgggggagggaggagtCacagctgggggtgtgggggc	5	7	23	6	0	1	0	1	0	0	0	1	3	1	3	1	8	1	1	1	8	0	1			TCGA-FC-A5OB-01A-11D-A29Q-08	TCGA-FC-A5OB-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcaa1a41-14fc-43fa-b8d5-fe4b38c53b26	13d967a8-324f-4f11-a766-db89703af761	g.chr12:57112272C>T	ENST00000454682.1	-	3	3323	c.3042G>A	c.(3040-3042)gtG>gtA	p.V1014V	NACA_ENST00000551793.1_Intron|NACA_ENST00000552540.1_Intron|NACA_ENST00000550952.1_Intron|NACA_ENST00000356769.3_Intron|NACA_ENST00000393891.4_Intron|NACA_ENST00000546392.1_Intron|NACA_ENST00000548563.1_Intron	NM_001113203.2	NP_001106674.2	E9PAV3	NACAM_HUMAN	nascent polypeptide-associated complex alpha subunit	1014	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						AGGGAGGAGTCACAGCTGGGG	0.657			T	BCL6	NHL																																	ENST00000454682.1				Dom	yes		12	12q23-q24.1	4666	T	nascent-polypeptide-associated complex alpha polypeptide			L	BCL6		NHL		0				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						c.(3040-3042)gtG>gtA		nascent polypeptide-associated complex alpha subunit							31	37	35					12																	57112272		1543	3531	5074	SO:0001819	synonymous_variant	4666				interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation	nascent polypeptide-associated complex|nucleus	DNA binding	g.chr12:57112272C>T	X80909	CCDS31837.1, CCDS44925.1, CCDS44925.2	12q23-q24.1	2008-09-05	2007-04-20		ENSG00000196531	ENSG00000196531			7629	protein-coding gene	gene with protein product		601234	"nascent-polypeptide-associated complex alpha polypeptide"			8047162	Standard	NM_001113202		Approved	NACA1	uc001sma.2	E9PAV3		ENST00000454682.1:c.3042G>A	12.37:g.57112272C>T						NACA_ENST00000393891.4_Intron|NACA_ENST00000356769.3_Intron|NACA_ENST00000548563.1_Intron|NACA_ENST00000551793.1_Intron|NACA_ENST00000546392.1_Intron|NACA_ENST00000550952.1_Intron|NACA_ENST00000552540.1_Intron	p.V1014V	NM_001113203.2	NP_001106674.2	Q13765	NACA_HUMAN			3	3323	-			0						Silent	SNP	ENST00000454682.1	37	c.3042G>A																																																																																					0.657	NACA-201	KNOWN	basic	protein_coding	protein_coding		NM_005594		4	116	0	0	0	1	0	4	116					T	57112272	C	T	57112272	2	4	144	1	0	0	0	0	0	0	0	1	10133	813	29	3		3	NACA	12	57112272	Silent	SNP	C	TCGA-FC-A5OB-01A-11D-A29Q-08		57112272	76739623	27	7205											
SRGAP1	57522	broad.mit.edu	37	chr12	64491035	64491035	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ttttaggtgaaaatcctttgGctgatgaccagagtaaccat	12	13	9	7	0	0	4	0	3	0	1	1	4	1	4	3	2	1	2	3	2	4	4			TCGA-FC-A5OB-01A-11D-A29Q-08	TCGA-FC-A5OB-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcaa1a41-14fc-43fa-b8d5-fe4b38c53b26	13d967a8-324f-4f11-a766-db89703af761	g.chr12:64491035G>A	ENST00000355086.3	+	15	2217	c.1693G>A	c.(1693-1695)Gct>Act	p.A565T	SRGAP1_ENST00000357825.3_Missense_Mutation_p.A542T|SRGAP1_ENST00000543397.1_Missense_Mutation_p.A502T|RP11-196H14.2_ENST00000535594.1_RNA	NM_020762.2	NP_065813.1	Q7Z6B7	SRGP1_HUMAN	SLIT-ROBO Rho GTPase activating protein 1	565	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				axon guidance (GO:0007411)|cell migration (GO:0016477)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	Rho GTPase activator activity (GO:0005100)			breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	65			GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225)	GBM - Glioblastoma multiforme(28;0.0608)		AAATCCTTTGGCTGATGACCA	0.353																																						ENST00000355086.3																			0				breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	65						c.(1693-1695)Gct>Act		SLIT-ROBO Rho GTPase activating protein 1							69	68	68					12																	64491035		2203	4300	6503	SO:0001583	missense	57522				axon guidance	cytosol		g.chr12:64491035G>A	AB037725	CCDS8967.1	12q13.13	2011-07-04			ENSG00000196935	ENSG00000196935		"Rho GTPase activating proteins"	17382	protein-coding gene	gene with protein product		606523				11672528	Standard	NM_020762		Approved	KIAA1304, ARHGAP13	uc010ssp.1	Q7Z6B7	OTTHUMG00000168750	ENST00000355086.3:c.1693G>A	12.37:g.64491035G>A	ENSP00000347198:p.Ala565Thr					RP11-196H14.2_ENST00000535594.1_RNA|SRGAP1_ENST00000357825.3_Missense_Mutation_p.A542T|SRGAP1_ENST00000543397.1_Missense_Mutation_p.A502T	p.A565T	NM_020762.2	NP_065813.1	Q7Z6B7	SRGP1_HUMAN	GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225)	GBM - Glioblastoma multiforme(28;0.0608)	15	2217	+			565			Rho-GAP.		Q9H8A3|Q9P2P2	Missense_Mutation	SNP	ENST00000355086.3	37	c.1693G>A	CCDS8967.1	.	.	.	.	.	.	.	.	.	.	G	12.83	2.055757	0.36277	.	.	ENSG00000196935	ENST00000355086;ENST00000357825;ENST00000543397	T;T;T	0.18657	2.2;2.2;2.2	5.12	4.21	0.49690	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	0.227080	0.21023	U	0.081468	T	0.15046	0.0363	L	0.35249	1.045	0.34686	D	0.725199	B;B	0.09022	0.002;0.0	B;B	0.15052	0.012;0.007	T	0.15321	-1.0441	9	.	.	.	.	9.4587	0.38772	0.0731:0.0:0.7829:0.144	.	565;502	Q7Z6B7;G5EA48	SRGP1_HUMAN;.	T	565;542;502	ENSP00000347198:A565T;ENSP00000350480:A542T;ENSP00000437948:A502T	.	A	+	1	0	SRGAP1	62777302	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.488000	0.45276	1.440000	0.47531	0.650000	0.86243	GCT		0.353	SRGAP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000400896.1			6	38	0	0	0	1	0	6	38					A	64491035	G	A	64491035	3	1	144	1	0	0	0	0	1	0	0	0	15144	1203	42	3	1751	3	SRGAP1	12	64491035	Missense_Mutation	SNP	G	TCGA-FC-A5OB-01A-11D-A29Q-08	7378763	64491035	69360860	28	7206											
NUAK1	9891	broad.mit.edu	37	chr12	106500261	106500261	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tctgatgtgaaccatgtcttGttcatccttaattttgtcct	7	19	6	9	0	3	2	1	2	2	0	5	2	5	2	3	0	1	1	3	0	2	5			TCGA-FC-A5OB-01A-11D-A29Q-08	TCGA-FC-A5OB-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcaa1a41-14fc-43fa-b8d5-fe4b38c53b26	13d967a8-324f-4f11-a766-db89703af761	g.chr12:106500261G>C	ENST00000261402.2	-	2	1662	c.283C>G	c.(283-285)Caa>Gaa	p.Q95E	RP11-114F10.3_ENST00000548901.1_RNA	NM_014840.2	NP_055655.1	O60285	NUAK1_HUMAN	NUAK family, SNF1-like kinase, 1	95	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell adhesion (GO:0007155)|cellular response to DNA damage stimulus (GO:0006974)|regulation of cell adhesion (GO:0030155)|regulation of cell proliferation (GO:0042127)|regulation of cellular senescence (GO:2000772)|regulation of myosin-light-chain-phosphatase activity (GO:0035507)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|p53 binding (GO:0002039)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	37						ACCATGTCTTGTTCATCCTTA	0.338																																						ENST00000261402.2																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	37						c.(283-285)Caa>Gaa		NUAK family, SNF1-like kinase, 1							190	158	169					12																	106500261		2203	4300	6503	SO:0001583	missense	9891						ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr12:106500261G>C	AB011109	CCDS31892.1	12q23.3	2005-08-09				ENSG00000074590			14311	protein-coding gene	gene with protein product	"AMP-activated protein kinase family member 5"	608130				12409306, 13679856	Standard	NM_014840		Approved	ARK5, KIAA0537, NuaK1	uc001tlj.1	O60285	OTTHUMG00000169763	ENST00000261402.2:c.283C>G	12.37:g.106500261G>C	ENSP00000261402:p.Gln95Glu						p.Q95E	NM_014840.2	NP_055655.1	O60285	NUAK1_HUMAN			2	1662	-			95			Protein kinase.		A7MD39|Q96KA8	Missense_Mutation	SNP	ENST00000261402.2	37	c.283C>G	CCDS31892.1	.	.	.	.	.	.	.	.	.	.	G	15.87	2.961134	0.53400	.	.	ENSG00000074590	ENST00000261402;ENST00000359413	T	0.64618	-0.11	6.07	5.18	0.71444	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.115266	0.39146	N	0.001445	T	0.39118	0.1066	N	0.01515	-0.825	0.48975	D	0.999739	B	0.25521	0.128	B	0.38056	0.264	T	0.39231	-0.9624	10	0.07482	T	0.82	.	15.3608	0.74472	0.0665:0.0:0.9335:0.0	.	95	O60285	NUAK1_HUMAN	E	95	ENSP00000261402:Q95E	ENSP00000261402:Q95E	Q	-	1	0	NUAK1	105024391	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	9.869000	0.99810	1.591000	0.50007	-0.142000	0.14014	CAA		0.338	NUAK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405767.2	NM_014840		3	42	0	0	0	1	0	3	42					C	106500261	G	C	106500261	3	2	144	1	0	0	0	0	1	0	0	0	10712	1386	48	5	1726	5	NUAK1	12	106500261	Missense_Mutation	SNP	G	TCGA-FC-A5OB-01A-11D-A29Q-08	42009226	106500261	27351634	29	7207											
RIMBP2	23504	broad.mit.edu	37	chr12	130919341	130919341	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcgcccctcctcttgaagtCtggagagtcataggcgtcct	6	10	12	13	2	3	2	1	1	2	1	5	3	5	2	4	3	0	0	4	3	2	2			TCGA-FC-A5OB-01A-11D-A29Q-08	TCGA-FC-A5OB-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcaa1a41-14fc-43fa-b8d5-fe4b38c53b26	13d967a8-324f-4f11-a766-db89703af761	g.chr12:130919341C>A	ENST00000261655.4	-	11	2303	c.2140G>T	c.(2140-2142)Gac>Tac	p.D714Y	RIMBP2_ENST00000535703.1_Missense_Mutation_p.D622Y|RIMBP2_ENST00000536002.1_Missense_Mutation_p.D622Y	NM_015347.4	NP_056162.4	O15034	RIMB2_HUMAN	RIMS binding protein 2	714					negative regulation of phosphatase activity (GO:0010923)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|synapse (GO:0045202)				NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		CTCTTGAAGTCTGGAGAGTCA	0.597																																						ENST00000261655.4																			0				NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96						c.(2140-2142)Gac>Tac		RIMS binding protein 2							74	81	78					12																	130919341		2203	4300	6503	SO:0001583	missense	23504					cell junction|synapse		g.chr12:130919341C>A	AB002316	CCDS31925.1	12q24.33	2014-06-13				ENSG00000060709			30339	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 133"	611602				10748113	Standard	NM_015347		Approved	KIAA0318, RBP2, MGC15831, RIM-BP2, PPP1R133	uc001uil.2	O15034		ENST00000261655.4:c.2140G>T	12.37:g.130919341C>A	ENSP00000261655:p.Asp714Tyr					RIMBP2_ENST00000536002.1_Missense_Mutation_p.D622Y|RIMBP2_ENST00000535703.1_Missense_Mutation_p.D622Y	p.D714Y	NM_015347.4	NP_056162.4	O15034	RIMB2_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)	11	2303	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)	714					Q96ID2	Missense_Mutation	SNP	ENST00000261655.4	37	c.2140G>T	CCDS31925.1	.	.	.	.	.	.	.	.	.	.	C	7.169	0.587189	0.13812	.	.	ENSG00000060709	ENST00000261655;ENST00000392375;ENST00000535703;ENST00000536002	T;T;T	0.20069	2.1;2.91;2.91	5.0	4.11	0.48088	.	0.504399	0.19910	N	0.103318	T	0.11836	0.0288	N	0.22421	0.69	0.09310	N	1	P;P;P	0.39094	0.468;0.659;0.468	B;B;B	0.37387	0.086;0.248;0.086	T	0.19976	-1.0289	10	0.62326	D	0.03	-13.4069	1.9986	0.03462	0.1624:0.5009:0.1573:0.1793	.	622;622;714	C9JWN3;O15034-2;O15034	.;.;RIMB2_HUMAN	Y	714;622;622;622	ENSP00000261655:D714Y;ENSP00000440347:D622Y;ENSP00000439159:D622Y	ENSP00000261655:D714Y	D	-	1	0	RIMBP2	129485294	0.902000	0.30710	0.005000	0.12908	0.014000	0.08584	3.496000	0.53288	1.093000	0.41377	0.561000	0.74099	GAC		0.597	RIMBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399520.1	NM_015347		7	159	1	0	0.0381472	1	0.0387527	7	159					A	130919341	C	A	130919341	3	1	144	1	0	0	0	0	1	0	0	0	13363	913	32	5	1054	5	RIMBP2	12	130919341	Missense_Mutation	SNP	C	TCGA-FC-A5OB-01A-11D-A29Q-08	24419080	130919341	2932554	30	7208											
SLC10A2	6555	broad.mit.edu	37	chr13	103701637	103701637	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgggattggcatgattccttAcatcctaagaatattgcggc	10	13	10	8	1	0	2	0	1	0	1	2	3	2	3	2	3	2	1	2	3	4	6			TCGA-FC-A5OB-01A-11D-A29Q-08	TCGA-FC-A5OB-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcaa1a41-14fc-43fa-b8d5-fe4b38c53b26	13d967a8-324f-4f11-a766-db89703af761	g.chr13:103701637A>G	ENST00000245312.3	-	5	1516		c.e5+1			NM_000452.2	NP_000443	Q12908	NTCP2_HUMAN	solute carrier family 10 (sodium/bile acid cotransporter), member 2						bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|integral component of plasma membrane (GO:0005887)|microvillus (GO:0005902)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|proteasome complex (GO:0000502)	bile acid:sodium symporter activity (GO:0008508)			breast(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_neural(89;0.0662)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)				Aciclovir(DB00787)|Cyclosporine(DB00091)|Ursodeoxycholic acid(DB01586)|Valaciclovir(DB00577)	ATGATTCCTTACATCCTAAGA	0.423																																						ENST00000245312.3																			0				breast(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						c.e5+1		solute carrier family 10 (sodium/bile acid cotransporter), member 2							150	134	139					13																	103701637		2203	4300	6503	SO:0001630	splice_region_variant	6555				bile acid metabolic process|organic anion transport	integral to plasma membrane	bile acid:sodium symporter activity	g.chr13:103701637A>G	U10417	CCDS9506.1	13q33	2013-07-18	2013-07-18		ENSG00000125255	ENSG00000125255		"Solute carriers"	10906	protein-coding gene	gene with protein product		601295		ASBT, ISBT		8661017	Standard	NM_000452		Approved		uc001vpy.4	Q12908	OTTHUMG00000017313	ENST00000245312.3:c.919+1T>C	13.37:g.103701637A>G								NM_000452.2	NP_000443.1	Q12908	NTCP2_HUMAN			5	1516	-	all_neural(89;0.0662)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)							A1L4F4|Q13839	Splice_Site	SNP	ENST00000245312.3	37		CCDS9506.1	.	.	.	.	.	.	.	.	.	.	A	10.75	1.438445	0.25900	.	.	ENSG00000125255	ENST00000245312	.	.	.	5.42	4.24	0.50183	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.355	0.49611	0.9288:0.0:0.0712:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SLC10A2	102499638	1.000000	0.71417	0.447000	0.26932	0.051000	0.14879	8.839000	0.92120	0.990000	0.38787	0.533000	0.62120	.		0.423	SLC10A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045716.1		Intron	4	96	0	0	0	1	0	4	96					G	103701637	A	G	103701637	5	3	144	1	0	0	0	0	0	0	1	0	14374	405	14	4	133	4	SLC10A2	13	103701637	Splice_Site	SNP	A	TCGA-FC-A5OB-01A-11D-A29Q-08		103701637	11468241	31	7209											
AHNAK2	113146	broad.mit.edu	37	chr14	105414144	105414144	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggccctctgggagtttcacGtccacttggccagcctggac	5	9	13	14	1	2	0	1	0	1	0	3	2	3	2	4	4	1	1	4	4	0	2			TCGA-FC-A5OB-01A-11D-A29Q-08	TCGA-FC-A5OB-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcaa1a41-14fc-43fa-b8d5-fe4b38c53b26	13d967a8-324f-4f11-a766-db89703af761	g.chr14:105414144G>A	ENST00000333244.5	-	7	7763	c.7644C>T	c.(7642-7644)gaC>gaT	p.D2548D	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	2548						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GGAGTTTCACGTCCACTTGGC	0.637																																						ENST00000333244.5																			0				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33						c.(7642-7644)gaC>gaT		AHNAK nucleoprotein 2							107	119	115					14																	105414144		1903	4116	6019	SO:0001819	synonymous_variant	113146					nucleus		g.chr14:105414144G>A	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"chromosome 14 open reading frame 78"	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.7644C>T	14.37:g.105414144G>A						AHNAK2_ENST00000557457.1_Intron	p.D2548D	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)		7	7763	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	2548					Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Silent	SNP	ENST00000333244.5	37	c.7644C>T	CCDS45177.1																																																																																				0.637	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		5	310	0	0	0	1	0	5	310					A	105414144	G	A	105414144	2	1	144	1	0	0	0	0	0	0	0	1	415	1136	40	1		1	AHNAK2	14	105414144	Silent	SNP	G	TCGA-FC-A5OB-01A-11D-A29Q-08		105414144	1935396	32	7210											
HERC2	8924	broad.mit.edu	37	chr15	28359926	28359926	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tgtctcggatgtacatgagtCcaggaataaaatccttatca	13	12	8	8	1	2	1	1	1	1	0	5	3	4	3	2	2	1	1	2	2	5	3			TCGA-FC-A5OB-01A-11D-A29Q-08	TCGA-FC-A5OB-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcaa1a41-14fc-43fa-b8d5-fe4b38c53b26	13d967a8-324f-4f11-a766-db89703af761	g.chr15:28359926C>T	ENST00000261609.7	-	90	13853	c.13745G>A	c.(13744-13746)gGa>gAa	p.G4582E		NM_004667.5	NP_004658.3			HECT and RLD domain containing E3 ubiquitin protein ligase 2											NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		GTACATGAGTCCAGGAATAAA	0.502																																						ENST00000261609.7																			0				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204						c.(13744-13746)gGa>gAa		HECT and RLD domain containing E3 ubiquitin protein ligase 2							102	92	96					15																	28359926		2203	4300	6503	SO:0001583	missense	8924				DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr15:28359926C>T	AF071172	CCDS10021.1	15q13	2012-02-23	2012-02-23		ENSG00000128731	ENSG00000128731			4868	protein-coding gene	gene with protein product		605837	"hect domain and RLD 2"			9949213	Standard	NM_004667		Approved	jdf2, p528, D15F37S1	uc001zbj.4	O95714	OTTHUMG00000129251	ENST00000261609.7:c.13745G>A	15.37:g.28359926C>T	ENSP00000261609:p.Gly4582Glu						p.G4582E	NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)	90	13853	-		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)	4582			HECT.			Missense_Mutation	SNP	ENST00000261609.7	37	c.13745G>A	CCDS10021.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.240706	0.79912	.	.	ENSG00000128731	ENST00000261609	T	0.57595	0.39	5.17	5.17	0.71159	HECT (4);	0.057343	0.64402	D	0.000001	T	0.69106	0.3074	M	0.77486	2.375	0.80722	D	1	D;P	0.56035	0.974;0.741	P;P	0.54590	0.756;0.589	T	0.74438	-0.3665	10	0.72032	D	0.01	.	18.6672	0.91495	0.0:1.0:0.0:0.0	.	4582;271	O95714;Q8ND39	HERC2_HUMAN;.	E	4582	ENSP00000261609:G4582E	ENSP00000261609:G4582E	G	-	2	0	HERC2	26033521	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.811000	0.86092	2.407000	0.81776	0.655000	0.94253	GGA		0.502	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251358.2	NM_004667		13	61	0	0	0	1	0	13	61					T	28359926	C	T	28359926	3	4	144	1	0	0	0	0	1	0	0	0	7058	855	30	3	775	3	HERC2	15	28359926	Missense_Mutation	SNP	C	TCGA-FC-A5OB-01A-11D-A29Q-08		28359926	74171466	33	7211											
FMN1	342184	broad.mit.edu	37	chr15	33261413	33261413	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	aggagatattcagctttttgGgtactaattgattacttctg	10	17	9	5	0	2	2	1	1	1	1	2	3	2	2	0	2	3	2	0	2	4	9			TCGA-FC-A5OB-01A-11D-A29Q-08	TCGA-FC-A5OB-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcaa1a41-14fc-43fa-b8d5-fe4b38c53b26	13d967a8-324f-4f11-a766-db89703af761	g.chr15:33261413G>T	ENST00000559047.1	-	5	2488	c.2489C>A	c.(2488-2490)cCc>cAc	p.P830H	FMN1_ENST00000561249.1_Missense_Mutation_p.P732H|FMN1_ENST00000334528.9_Missense_Mutation_p.P607H|SNORD77_ENST00000391113.1_RNA			Q68DA7	FMN1_HUMAN	formin 1	830	Mediates interaction with alpha-catenin. {ECO:0000250}.				actin nucleation (GO:0045010)	actin filament (GO:0005884)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|upper_aerodigestive_tract(3)	29		all_lung(180;1.14e-07)		all cancers(64;3.05e-15)|Epithelial(43;1.67e-10)|GBM - Glioblastoma multiforme(186;4.95e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0262)		CAGCTTTTTGGGTACTAATTG	0.468																																						ENST00000334528.9																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|upper_aerodigestive_tract(3)	29						c.(1819-1821)cCc>cAc		formin 1							272	252	259					15																	33261413		1986	4173	6159	SO:0001583	missense	342184				actin cytoskeleton organization	actin cytoskeleton|adherens junction|cytoplasm|nucleus	actin binding	g.chr15:33261413G>T	AH002864	CCDS45209.1, CCDS61581.1, CCDS61582.1	15q13.3	2013-06-13	2005-01-20	2005-01-22	ENSG00000248905	ENSG00000248905			3768	protein-coding gene	gene with protein product	"limb deformity protein"	136535	"formin (limb deformity)"	LD, FMN		1673046	Standard	NM_001277313		Approved	DKFZP686C2281, FLJ45135, MGC125288, MGC125289	uc031qrh.1	Q68DA7	OTTHUMG00000172201	ENST00000559047.1:c.2489C>A	15.37:g.33261413G>T	ENSP00000454047:p.Pro830His					FMN1_ENST00000559047.1_Missense_Mutation_p.P830H|FMN1_ENST00000561249.1_Missense_Mutation_p.P732H	p.P607H	NM_001103184.2	NP_001096654.1	Q68DA7	FMN1_HUMAN		all cancers(64;3.05e-15)|Epithelial(43;1.67e-10)|GBM - Glioblastoma multiforme(186;4.95e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0262)	4	1819	-		all_lung(180;1.14e-07)	830			Mediates interaction with alpha-catenin (By similarity).|Microtubule-binding (By similarity).		Q3B7I6|Q3ZAR4|Q6ZSY1	Missense_Mutation	SNP	ENST00000559047.1	37	c.1820C>A		.	.	.	.	.	.	.	.	.	.	G	15.92	2.974692	0.53720	.	.	ENSG00000248905	ENST00000334528	T	0.56611	0.45	4.42	4.42	0.53409	.	0.000000	0.85682	D	0.000000	T	0.71178	0.3309	M	0.68952	2.095	.	.	.	D	0.89917	1.0	D	0.97110	1.0	T	0.76841	-0.2810	9	0.87932	D	0	.	17.2271	0.86973	0.0:0.0:1.0:0.0	.	607	Q68DA7-5	.	H	607	ENSP00000333950:P607H	ENSP00000333950:P607H	P	-	2	0	FMN1	31048705	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	7.538000	0.82048	2.291000	0.77112	0.555000	0.69702	CCC		0.468	FMN1-005	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000417414.1	NM_001103184		99	133	1	0	3.77759e-48	1	4.02943e-48	99	133					T	33261413	G	T	33261413	3	4	144	1	0	0	0	0	1	0	0	0	5949	1232	43	5	1826	5	FMN1	15	33261413	Missense_Mutation	SNP	G	TCGA-FC-A5OB-01A-11D-A29Q-08	4901487	33261413	69269979	34	7212											
BUB1B	701	broad.mit.edu	37	chr15	40501921	40501921	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttaagtgcctctgcagagttGtgtatagaagacagaccaat	13	11	10	7	0	1	4	0	0	1	4	1	4	1	4	2	0	2	3	2	0	5	4			TCGA-FC-A5OB-01A-11D-A29Q-08	TCGA-FC-A5OB-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcaa1a41-14fc-43fa-b8d5-fe4b38c53b26	13d967a8-324f-4f11-a766-db89703af761	g.chr15:40501921G>A	ENST00000287598.6	+	17	2424	c.2229G>A	c.(2227-2229)ttG>ttA	p.L743L	BUB1B_ENST00000412359.3_Silent_p.L757L	NM_001211.5	NP_001202	O60566	BUB1B_HUMAN	BUB1 mitotic checkpoint serine/threonine kinase B	743					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|protein localization to chromosome, centromeric region (GO:0071459)|protein localization to kinetochore (GO:0034501)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|condensed chromosome kinetochore (GO:0000777)|condensed chromosome outer kinetochore (GO:0000940)|condensed nuclear chromosome kinetochore (GO:0000778)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|perinuclear region of cytoplasm (GO:0048471)|spindle midzone (GO:0051233)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|liver(2)|lung(17)|ovary(1)|stomach(2)|urinary_tract(2)	36		all_cancers(109;1.12e-18)|all_epithelial(112;1.61e-15)|Lung NSC(122;5.63e-11)|all_lung(180;1.4e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;1.83e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0556)		CTGCAGAGTTGTGTATAGAAG	0.448			"Mis, N, F, S"			rhabdomyosarcoma			Mosaic Variegated Aneuploidy Syndrome																													ENST00000287598.6			yes	Rec		Mosaic variegated aneuploidy	15	15q15	701	"Mis, N, F, S"	BUB1 budding uninhibited by benzimidazoles 1 homolog beta (yeast)			M		rhabdomyosarcoma			0				breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|liver(2)|lung(17)|ovary(1)|stomach(2)|urinary_tract(2)	36						c.(2227-2229)ttG>ttA		BUB1 mitotic checkpoint serine/threonine kinase B							130	130	130					15																	40501921		2203	4300	6503	SO:0001819	synonymous_variant	701	Mosaic Variegated Aneuploidy Syndrome	Familial Cancer Database	MVA, MVA syndrome, VMA syndrome, variegated mosaic aneuploidy syndrome, premature centromere division	anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell division|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|phosphatidylinositol-mediated signaling|protein localization to kinetochore|spindle organization	anaphase-promoting complex|condensed chromosome outer kinetochore|cytosol|microtubule organizing center|perinuclear region of cytoplasm|spindle midzone	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr15:40501921G>A	AF107297	CCDS10053.1	15q15	2014-09-17	2013-01-17		ENSG00000156970	ENSG00000156970			1149	protein-coding gene	gene with protein product		602860	"budding uninhibited by benzimidazoles 1 (yeast homolog), beta", "budding uninhibited by benzimidazoles 1 homolog beta (yeast)"			9889005	Standard	NM_001211		Approved	BUBR1, MAD3L, Bub1A, SSK1	uc001zkx.4	O60566	OTTHUMG00000129877	ENST00000287598.6:c.2229G>A	15.37:g.40501921G>A						BUB1B_ENST00000412359.3_Silent_p.L757L	p.L743L	NM_001211.5	NP_001202.4	O60566	BUB1B_HUMAN		GBM - Glioblastoma multiforme(113;1.83e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0556)	17	2424	+		all_cancers(109;1.12e-18)|all_epithelial(112;1.61e-15)|Lung NSC(122;5.63e-11)|all_lung(180;1.4e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)	743					B2R6U0|B4DL09|B4DLG3|O60501|O60627|O60758|O75389|Q59HH6|Q8WV50|Q96KM4	Silent	SNP	ENST00000287598.6	37	c.2229G>A	CCDS10053.1																																																																																				0.448	BUB1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252122.4			39	61	0	0	0	1	0	39	61					A	40501921	G	A	40501921	2	1	144	1	0	0	0	0	0	0	0	1	1571	1368	48	3		3	BUB1B	15	40501921	Silent	SNP	G	TCGA-FC-A5OB-01A-11D-A29Q-08	7240508	40501921	62029471	35	7213											
PTX4	390667	broad.mit.edu	37	chr16	1537738	1537738	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctcgcccagggtgaggtcCaaggcccgcagccgcgtgtc	5	6	14	16	4	1	1	0	1	1	0	4	1	2	1	4	3	1	1	4	3	1	0			TCGA-FC-A5OB-01A-11D-A29Q-08	TCGA-FC-A5OB-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcaa1a41-14fc-43fa-b8d5-fe4b38c53b26	13d967a8-324f-4f11-a766-db89703af761	g.chr16:1537738C>T	ENST00000447419.2	-	2	400	c.375G>A	c.(373-375)ttG>ttA	p.L125L	PTX4_ENST00000440447.2_Intron|PTX4_ENST00000293922.1_Silent_p.L120L			Q96A99	PTX4_HUMAN	pentraxin 4, long	125						extracellular region (GO:0005576)	metal ion binding (GO:0046872)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	17						GGGTGAGGTCCAAGGCCCGCA	0.701																																						ENST00000447419.2																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	17						c.(373-375)ttG>ttA		pentraxin 4, long							24	30	28					16																	1537738		2195	4291	6486	SO:0001819	synonymous_variant	390667					extracellular region	metal ion binding	g.chr16:1537738C>T		CCDS32362.1	16p13.3	2011-01-06	2010-03-30	2010-03-30	ENSG00000251692	ENSG00000251692			14171	protein-coding gene	gene with protein product		613442	"chromosome 16 open reading frame 38"	C16orf38			Standard	NM_001013658		Approved		uc010uvf.2	Q96A99		ENST00000447419.2:c.375G>A	16.37:g.1537738C>T						PTX4_ENST00000440447.2_Intron|PTX4_ENST00000293922.1_Silent_p.L120L	p.L125L			Q96A99	PTX4_HUMAN			2	400	-			125						Silent	SNP	ENST00000447419.2	37	c.375G>A																																																																																					0.701	PTX4-001	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000432526.1	NM_001013658		33	49	0	0	0	1	0	33	49					T	1537738	C	T	1537738	2	4	144	1	0	0	0	0	0	0	0	1	12823	593	21	3		3	PTX4	16	1537738	Silent	SNP	C	TCGA-FC-A5OB-01A-11D-A29Q-08		1537738	88817015	36	7214											
NXN	64359	broad.mit.edu	37	chr17	722762	722762	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gccagggcatctcactgaagTactgtttgaaggactcctcc	9	10	10	12	0	1	2	1	2	1	0	4	3	3	3	3	2	1	3	3	2	3	2			TCGA-FC-A5OB-01A-11D-A29Q-08	TCGA-FC-A5OB-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcaa1a41-14fc-43fa-b8d5-fe4b38c53b26	13d967a8-324f-4f11-a766-db89703af761	g.chr17:722762T>C	ENST00000336868.3	-	5	828	c.737A>G	c.(736-738)tAc>tGc	p.Y246C	NXN_ENST00000537628.2_5'UTR|NXN_ENST00000575801.1_Missense_Mutation_p.Y138C|NXN_ENST00000538650.1_5'UTR	NM_022463.4	NP_071908.2	Q6DKJ4	NXN_HUMAN	nucleoredoxin	246	Thioredoxin. {ECO:0000255|PROSITE- ProRule:PRU00691}.				cardiovascular system development (GO:0072358)|cell differentiation (GO:0030154)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of Wnt signaling pathway (GO:0030178)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein-disulfide reductase activity (GO:0047134)|thioredoxin-disulfide reductase activity (GO:0004791)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)|ovary(2)|pancreas(1)|prostate(1)	13				UCEC - Uterine corpus endometrioid carcinoma (25;0.0237)		CTCACTGAAGTACTGTTTGAA	0.632																																						ENST00000336868.3																			0				breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)|ovary(2)|pancreas(1)|prostate(1)	13						c.(736-738)tAc>tGc		nucleoredoxin							79	74	75					17																	722762		2203	4300	6503	SO:0001583	missense	64359				cell differentiation|cell redox homeostasis|multicellular organismal development|Wnt receptor signaling pathway	cytosol|nucleus	protein-disulfide reductase activity	g.chr17:722762T>C		CCDS10998.1, CCDS56013.1	17p13	2007-08-10			ENSG00000167693	ENSG00000167693			18008	protein-coding gene	gene with protein product		612895					Standard	NM_022463		Approved	FLJ12614, NRX	uc002fsa.3	Q6DKJ4	OTTHUMG00000090307	ENST00000336868.3:c.737A>G	17.37:g.722762T>C	ENSP00000337443:p.Tyr246Cys					NXN_ENST00000538650.1_5'UTR|NXN_ENST00000537628.2_5'UTR|NXN_ENST00000575801.1_Missense_Mutation_p.Y138C	p.Y246C	NM_022463.4	NP_071908.2	Q6DKJ4	NXN_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.0237)	5	828	-			246			Thioredoxin.		B4DXQ0|D3DTH2|Q3SWW6|Q6P3U6|Q7L4C6|Q9H9Q1	Missense_Mutation	SNP	ENST00000336868.3	37	c.737A>G	CCDS10998.1	.	.	.	.	.	.	.	.	.	.	T	29.3	4.997485	0.93227	.	.	ENSG00000167693	ENST00000336868;ENST00000537628	D	0.82255	-1.59	6.0	6.0	0.97389	Alkyl hydroperoxide reductase subunit C/ Thiol specific antioxidant (1);Thioredoxin-like fold (3);	0.000000	0.85682	D	0.000000	D	0.94235	0.8149	H	0.96691	3.865	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.87578	0.964;0.998;0.998	D	0.95769	0.8807	10	0.66056	D	0.02	-19.3587	15.6874	0.77421	0.0:0.0:0.0:1.0	.	138;133;246	B4DXQ0;Q6DKJ4-2;Q6DKJ4	.;.;NXN_HUMAN	C	246;138	ENSP00000337443:Y246C	ENSP00000337443:Y246C	Y	-	2	0	NXN	669512	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.888000	0.87302	2.298000	0.77334	0.496000	0.49642	TAC		0.632	NXN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206669.1			29	66	0	0	0	1	0	29	66					C	722762	T	C	722762	3	2	144	1	0	0	0	0	1	0	0	0	10787	1638	57	4	586	4	NXN	17	722762	Missense_Mutation	SNP	T	TCGA-FC-A5OB-01A-11D-A29Q-08		722762	80472448	37	7215											
TEKT3	64518	broad.mit.edu	37	chr17	15207265	15207265	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tggggtccctagcagaagccGaccagccggagggtgttggg	7	6	18	10	2	0	1	0	0	0	1	1	3	1	2	4	5	3	2	4	5	2	2	rs1047882		TCGA-FC-A5OB-01A-11D-A29Q-08	TCGA-FC-A5OB-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcaa1a41-14fc-43fa-b8d5-fe4b38c53b26	13d967a8-324f-4f11-a766-db89703af761	g.chr17:15207265G>A	ENST00000395930.1	-	9	1647	c.1461C>T	c.(1459-1461)gtC>gtT	p.V487V	TEKT3_ENST00000338696.2_Silent_p.V487V|TEKT3_ENST00000462175.1_5'UTR	NM_031898.2	NP_114104.1	Q9BXF9	TEKT3_HUMAN	tektin 3	487					cilium morphogenesis (GO:0060271)|regulation of fertilization (GO:0080154)|sperm motility (GO:0030317)	acrosomal membrane (GO:0002080)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|nucleus (GO:0005634)|sperm flagellum (GO:0036126)				endometrium(1)|kidney(3)|large_intestine(5)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	23				UCEC - Uterine corpus endometrioid carcinoma (92;0.0877)		AGCAGAAGCCGACCAGCCGGA	0.527													G|||	1	0.000199681	0	0.0014	5008	,	,		19614	0		0	False		,,,				2504	0					ENST00000395930.1																			0				endometrium(1)|kidney(3)|large_intestine(5)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	23						c.(1459-1461)gtC>gtT		tektin 3							98	87	91					17																	15207265		2203	4300	6503	SO:0001819	synonymous_variant	64518				microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule		g.chr17:15207265G>A	AF334676	CCDS11169.1	17p12	2011-05-23			ENSG00000125409	ENSG00000125409			14293	protein-coding gene	gene with protein product		612683				11381029, 14735490	Standard	NM_031898		Approved	FLJ32828	uc002gon.3	Q9BXF9	OTTHUMG00000058965	ENST00000395930.1:c.1461C>T	17.37:g.15207265G>A						TEKT3_ENST00000462175.1_5'UTR|TEKT3_ENST00000338696.2_Silent_p.V487V	p.V487V	NM_031898.2	NP_114104.1	Q9BXF9	TEKT3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.0877)	9	1647	-			487					B2RAS7|D3DTT0|Q8N5R5|Q96M48	Silent	SNP	ENST00000395930.1	37	c.1461C>T	CCDS11169.1																																																																																				0.527	TEKT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130385.2	NM_031898		28	46	0	0	0	1	0	28	46					A	15207265	G	A	15207265	2	1	144	1	0	0	0	0	0	0	0	1	15751	1045	37	2		2	TEKT3	17	15207265	Silent	SNP	G	TCGA-FC-A5OB-01A-11D-A29Q-08	14484503	15207265	65987945	38	7216											
FKBP10	60681	broad.mit.edu	37	chr17	39974421	39974421	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	acaaggaagacaccgtgcagGtgagcacattgctgcgcccg	11	5	13	12	3	0	2	0	1	0	1	0	3	0	3	2	2	4	3	2	2	2	1			TCGA-FC-A5OB-01A-11D-A29Q-08	TCGA-FC-A5OB-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcaa1a41-14fc-43fa-b8d5-fe4b38c53b26	13d967a8-324f-4f11-a766-db89703af761	g.chr17:39974421G>T	ENST00000321562.4	+	3	576	c.472G>T	c.(472-474)Gtg>Ttg	p.V158L	FKBP10_ENST00000544340.1_5'Flank	NM_021939.3	NP_068758.3	Q96AY3	FKB10_HUMAN	FK506 binding protein 10, 65 kDa	158					chaperone-mediated protein folding (GO:0061077)|protein peptidyl-prolyl isomerization (GO:0000413)	endoplasmic reticulum membrane (GO:0005789)	calcium ion binding (GO:0005509)|FK506 binding (GO:0005528)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			cervix(1)|endometrium(3)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	14		Breast(137;0.00122)		BRCA - Breast invasive adenocarcinoma(366;0.148)		CACCGTGCAGGTGAGCACATT	0.622																																						ENST00000321562.4																			0				cervix(1)|endometrium(3)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	14						c.(472-474)Gtg>Ttg		FK506 binding protein 10, 65 kDa							65	60	62					17																	39974421		2203	4300	6503	SO:0001583	missense	60681				protein folding	endoplasmic reticulum lumen|membrane	calcium ion binding|FK506 binding|peptidyl-prolyl cis-trans isomerase activity	g.chr17:39974421G>T	AB045981	CCDS11409.1	17q21.2	2014-09-17	2002-08-29		ENSG00000141756	ENSG00000141756		"EF-hand domain containing"	18169	protein-coding gene	gene with protein product		607063	"FK506 binding protein 10 (65 kDa)"			11071917, 18786928	Standard	NM_021939		Approved	hFKBP65, FLJ22041, FKBP6, FLJ20683, FLJ23833	uc002hxv.2	Q96AY3	OTTHUMG00000133497	ENST00000321562.4:c.472G>T	17.37:g.39974421G>T	ENSP00000317232:p.Val158Leu						p.V158L	NM_021939.3	NP_068758.3	Q96AY3	FKB10_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.148)	3	576	+		Breast(137;0.00122)	158					Q7Z3R4|Q9H3N3|Q9H6J3|Q9H6N5|Q9UF89	Missense_Mutation	SNP	ENST00000321562.4	37	c.472G>T	CCDS11409.1	.	.	.	.	.	.	.	.	.	.	G	15.66	2.897990	0.52227	.	.	ENSG00000141756	ENST00000269598;ENST00000321562;ENST00000414352	T	0.55052	0.54	5.53	4.54	0.55810	.	0.412895	0.22837	N	0.055037	T	0.39886	0.1095	L	0.60455	1.87	0.80722	D	1	B	0.20164	0.042	B	0.22601	0.04	T	0.21484	-1.0244	10	0.05833	T	0.94	-22.4168	4.3584	0.11190	0.1891:0.0:0.6145:0.1964	.	158	Q96AY3	FKB10_HUMAN	L	158	ENSP00000317232:V158L	ENSP00000269598:V158L	V	+	1	0	FKBP10	37227947	1.000000	0.71417	1.000000	0.80357	0.820000	0.46376	3.778000	0.55371	1.297000	0.44761	0.561000	0.74099	GTG		0.622	FKBP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257410.2	NM_021939		27	28	1	0	2.44723e-14	1	2.56759e-14	27	28					T	39974421	G	T	39974421	3	4	144	1	0	0	0	0	1	0	0	0	5902	1261	44	5	482	5	FKBP10	17	39974421	Missense_Mutation	SNP	G	TCGA-FC-A5OB-01A-11D-A29Q-08	24767156	39974421	41220789	39	7217											
FDXR	2232	broad.mit.edu	37	chr17	72858969	72858969	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggaggcgcagcatctcctgAggatccaccagcttctccct	8	8	10	15	1	2	1	0	1	2	0	5	3	3	3	4	3	2	3	4	3	0	1			TCGA-FC-A5OB-01A-11D-A29Q-08	TCGA-FC-A5OB-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcaa1a41-14fc-43fa-b8d5-fe4b38c53b26	13d967a8-324f-4f11-a766-db89703af761	g.chr17:72858969A>C	ENST00000293195.5	-	12	1524	c.1446T>G	c.(1444-1446)ccT>ccG	p.P482P	GRIN2C_ENST00000293190.5_5'Flank|FDXR_ENST00000413947.2_Silent_p.P513P|FDXR_ENST00000581530.1_Silent_p.P488P|FDXR_ENST00000582944.1_Silent_p.P474P|GRIN2C_ENST00000578159.1_5'Flank|FDXR_ENST00000420580.2_Silent_p.P442P|FDXR_ENST00000583917.1_Silent_p.P454P|FDXR_ENST00000442102.2_Silent_p.P525P|FDXR_ENST00000455107.2_3'UTR|GRIN2C_ENST00000347612.4_5'Flank|FDXR_ENST00000544854.1_Silent_p.P430P	NM_001258014.1|NM_004110.3|NM_024417.2	NP_001244943.1|NP_004101.2|NP_077728.2	P22570	ADRO_HUMAN	ferredoxin reductase	482					cholesterol metabolic process (GO:0008203)|generation of precursor metabolites and energy (GO:0006091)|NADPH oxidation (GO:0070995)|oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281)|steroid biosynthetic process (GO:0006694)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ferredoxin-NADP+ reductase activity (GO:0004324)|NADPH binding (GO:0070402)|NADPH-adrenodoxin reductase activity (GO:0015039)			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(9)|prostate(1)|skin(1)	16	all_lung(278;0.172)|Lung NSC(278;0.207)				Flavin adenine dinucleotide(DB03147)	GCATCTCCTGAGGATCCACCA	0.692																																						ENST00000442102.2																			0				central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(9)|prostate(1)|skin(1)	16						c.(1573-1575)ccT>ccG		ferredoxin reductase							42	50	47					17																	72858969		2203	4299	6502	SO:0001819	synonymous_variant	2232				cholesterol metabolic process|electron transport chain|steroid biosynthetic process|transport	mitochondrial matrix	ferredoxin-NADP+ reductase activity|protein binding	g.chr17:72858969A>C	J03826	CCDS11707.1, CCDS58591.1, CCDS58592.1, CCDS58593.1, CCDS58594.1, CCDS58595.1, CCDS58596.1	17q25.1	2013-06-18			ENSG00000161513	ENSG00000161513	1.18.1.6		3642	protein-coding gene	gene with protein product	"adrenodoxin-NADP(+) reductase", "adrenodoxin reductase"	103270		ADXR		2969697	Standard	NM_001258014		Approved		uc010wrl.2	P22570	OTTHUMG00000179026	ENST00000293195.5:c.1446T>G	17.37:g.72858969A>C						FDXR_ENST00000581530.1_Silent_p.P488P|FDXR_ENST00000420580.2_Silent_p.P442P|FDXR_ENST00000455107.2_3'UTR|FDXR_ENST00000583917.1_Silent_p.P454P|FDXR_ENST00000293195.5_Silent_p.P482P|FDXR_ENST00000544854.1_Silent_p.P430P|FDXR_ENST00000413947.2_Silent_p.P513P|FDXR_ENST00000582944.1_Silent_p.P474P	p.P525P	NM_001258012.1	NP_001244941.1	P22570	ADRO_HUMAN			12	1661	-	all_lung(278;0.172)|Lung NSC(278;0.207)		482					B4DDI7|B4DHX5|B4DQQ4|B4DX24|B7Z7G2|E7EQC1|Q13716|Q4PJI0|Q9BU12	Silent	SNP	ENST00000293195.5	37	c.1575T>G	CCDS58593.1																																																																																				0.692	FDXR-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000444449.1	NM_004110		5	68	0	0	0	1	0	5	68					C	72858969	A	C	72858969	2	2	144	1	0	0	0	0	0	0	0	1	5807	291	11	5		5	FDXR	17	72858969	Silent	SNP	A	TCGA-FC-A5OB-01A-11D-A29Q-08	32884548	72858969	8336241	40	7218											
CRLF1	9244	broad.mit.edu	37	chr19	18704899	18704899	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgccgtgccccgtctgcccgAgggcaggatcccctcgtcct	3	7	12	19	5	1	0	0	0	1	0	4	2	3	1	7	2	2	1	7	2	0	0			TCGA-FC-A5OB-01A-11D-A29Q-08	TCGA-FC-A5OB-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcaa1a41-14fc-43fa-b8d5-fe4b38c53b26	13d967a8-324f-4f11-a766-db89703af761	g.chr19:18704899A>G	ENST00000392386.3	-	8	1424	c.1231T>C	c.(1231-1233)Tcg>Ccg	p.S411P	CRLF1_ENST00000594325.1_Intron	NM_004750.4	NP_004741.1	O75462	CRLF1_HUMAN	cytokine receptor-like factor 1	411					negative regulation of motor neuron apoptotic process (GO:2000672)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of cell proliferation (GO:0008284)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|ureteric bud development (GO:0001657)	CRLF-CLCF1 complex (GO:0097058)|extracellular space (GO:0005615)	cytokine binding (GO:0019955)|protein heterodimerization activity (GO:0046982)|receptor activity (GO:0004872)			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)	9						CGTCTGCCCGAGGGCAGGATC	0.662																																						ENST00000392386.3																			0				central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)	9						c.(1231-1233)Tcg>Ccg		cytokine receptor-like factor 1							13	11	12					19																	18704899		2172	4269	6441	SO:0001583	missense	9244				negative regulation of neuron apoptosis|positive regulation of cell proliferation|positive regulation of tyrosine phosphorylation of Stat3 protein	extracellular space	cytokine binding|protein heterodimerization activity|receptor activity	g.chr19:18704899A>G	AF059293	CCDS32962.1	19p12	2013-02-11				ENSG00000006016		"Fibronectin type III domain containing"	2364	protein-coding gene	gene with protein product	"cold-induced sweating syndrome"	604237				9686600	Standard	NM_004750		Approved	CLF-1, CLF, CISS, CISS1	uc010ebt.2	O75462		ENST00000392386.3:c.1231T>C	19.37:g.18704899A>G	ENSP00000376188:p.Ser411Pro					CRLF1_ENST00000594325.1_Intron	p.S411P	NM_004750.4	NP_004741.1	O75462	CRLF1_HUMAN			8	1424	-			411					Q9UHH5	Missense_Mutation	SNP	ENST00000392386.3	37	c.1231T>C	CCDS32962.1	.	.	.	.	.	.	.	.	.	.	A	12.55	1.972992	0.34848	.	.	ENSG00000006016	ENST00000392386	D	0.83673	-1.75	4.1	1.9	0.25705	.	0.879646	0.09439	N	0.802041	T	0.68146	0.2969	N	0.19112	0.55	0.28970	N	0.889318	B	0.02656	0.0	B	0.01281	0.0	T	0.58358	-0.7650	10	0.44086	T	0.13	-17.9175	3.443	0.07470	0.6885:0.0:0.1132:0.1983	.	411	O75462	CRLF1_HUMAN	P	411	ENSP00000376188:S411P	ENSP00000376188:S411P	S	-	1	0	CRLF1	18565899	0.999000	0.42202	1.000000	0.80357	0.967000	0.64934	0.371000	0.20450	0.606000	0.29965	0.260000	0.18958	TCG		0.662	CRLF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465129.1			4	7	0	0	0	1	0	4	7					G	18704899	A	G	18704899	3	3	144	1	0	0	0	0	1	0	0	0	3886	304	11	4	45	4	CRLF1	19	18704899	Missense_Mutation	SNP	A	TCGA-FC-A5OB-01A-11D-A29Q-08		18704899	40424084	41	7219											
ZNF714	148206	broad.mit.edu	37	chr19	21299769	21299769	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgagtgtaaggtgtacaaaaAaggttatgaactaaaccagt	17	10	10	4	0	0	2	0	2	0	0	0	2	0	2	1	2	3	3	1	2	9	4			TCGA-FC-A5OB-01A-11D-A29Q-08	TCGA-FC-A5OB-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcaa1a41-14fc-43fa-b8d5-fe4b38c53b26	13d967a8-324f-4f11-a766-db89703af761	g.chr19:21299769A>T	ENST00000596143.1	+	5	624	c.299A>T	c.(298-300)aAa>aTa	p.K100I	ZNF714_ENST00000601416.1_3'UTR|ZNF714_ENST00000291770.7_3'UTR|ZNF714_ENST00000596053.1_Intron	NM_182515.3	NP_872321	Q96N38	ZN714_HUMAN	zinc finger protein 714	100					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(2)|kidney(3)|lung(11)|urinary_tract(2)	18						GTGTACAAAAAAGGTTATGAA	0.318																																						ENST00000596143.1																			0				endometrium(2)|kidney(3)|lung(11)|urinary_tract(2)	18						c.(298-300)aAa>aTa		zinc finger protein 714							44	44	44					19																	21299769		2187	4293	6480	SO:0001583	missense	148206				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:21299769A>T	AK056006	CCDS54239.1	19p12	2013-01-08				ENSG00000160352		"Zinc fingers, C2H2-type"	27124	protein-coding gene	gene with protein product						12477932	Standard	NM_182515		Approved		uc002npo.4	Q96N38		ENST00000596143.1:c.299A>T	19.37:g.21299769A>T	ENSP00000472368:p.Lys100Ile					ZNF714_ENST00000291770.7_3'UTR|ZNF714_ENST00000601416.1_3'UTR|ZNF714_ENST00000596053.1_Intron	p.K100I	NM_182515.3	NP_872321.2	Q96N38	ZN714_HUMAN			5	624	+			100					Q49AI1|Q86W65|Q8ND40	Missense_Mutation	SNP	ENST00000596143.1	37	c.299A>T	CCDS54239.1	.	.	.	.	.	.	.	.	.	.	.	3.302	-0.142634	0.06669	.	.	ENSG00000160352	ENST00000343332;ENST00000291770	.	.	.	0.601	-0.979	0.10276	.	.	.	.	.	T	0.18425	0.0442	N	0.19112	0.55	0.09310	N	1	B;B	0.23442	0.085;0.001	B;B	0.18561	0.022;0.0	T	0.19976	-1.0289	8	0.56958	D	0.05	.	1.7709	0.03011	0.3789:0.3106:0.0:0.3105	.	100;100	Q96N38-2;A6NEM4	.;.	I	100	.	ENSP00000291770:K100I	K	+	2	0	ZNF714	21091609	0.001000	0.12720	0.000000	0.03702	0.003000	0.03518	-0.192000	0.09587	-0.425000	0.07371	-0.714000	0.03626	AAA		0.318	ZNF714-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463930.1	NM_182515		13	27	0	0	0	1	0	13	27					T	21299769	A	T	21299769	3	4	144	1	0	0	0	0	1	0	0	0	18115	14	1	5	309	5	ZNF714	19	21299769	Missense_Mutation	SNP	A	TCGA-FC-A5OB-01A-11D-A29Q-08	2594870	21299769	37829214	42	7220											
MAG	4099	broad.mit.edu	37	chr19	35793406	35793406	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtggccgtagagggggagacGgtctctatcttgtgctccac	6	10	15	10	2	2	2	0	0	2	2	4	3	3	2	2	4	1	2	2	4	2	3	rs200660504		TCGA-FC-A5OB-01A-11D-A29Q-08	TCGA-FC-A5OB-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcaa1a41-14fc-43fa-b8d5-fe4b38c53b26	13d967a8-324f-4f11-a766-db89703af761	g.chr19:35793406G>A	ENST00000392213.3	+	7	1185	c.1026G>A	c.(1024-1026)acG>acA	p.T342T	MAG_ENST00000537831.2_Silent_p.T317T|MAG_ENST00000361922.4_Silent_p.T342T	NM_002361.3	NP_002352.1	P20916	MAG_HUMAN	myelin associated glycoprotein	342	Ig-like C2-type 3.				blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|leukocyte migration (GO:0050900)|negative regulation of axonogenesis (GO:0050771)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of axonogenesis (GO:0050770)|substantia nigra development (GO:0021762)	integral component of membrane (GO:0016021)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|Schmidt-Lanterman incisure (GO:0043220)	carbohydrate binding (GO:0030246)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(11)|skin(2)|upper_aerodigestive_tract(2)	34	all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162)	Renal(1328;0.242)	Epithelial(14;3.14e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.5e-18)|all cancers(14;1.5e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)			AGGGGGAGACGGTCTCTATCT	0.577													G|||	1	0.000199681	0	0	5008	,	,		20000	0.001		0	False		,,,				2504	0					ENST00000361922.4																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(11)|skin(2)|upper_aerodigestive_tract(2)	34						c.(1024-1026)acG>acA		myelin associated glycoprotein							108	89	96					19																	35793406		2203	4300	6503	SO:0001819	synonymous_variant	4099				blood coagulation|cell adhesion|leukocyte migration|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway	integral to membrane|plasma membrane	sugar binding	g.chr19:35793406G>A	M29273	CCDS12455.1, CCDS12456.1, CCDS56090.1	19q13.1	2013-01-29			ENSG00000105695	ENSG00000105695		"Sialic acid binding Ig-like lectins", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6783	protein-coding gene	gene with protein product	"sialic acid binding Ig-like lectin 4A"	159460		GMA		2476987, 8432525	Standard	NM_080600		Approved	SIGLEC4A, SIGLEC-4A, S-MAG	uc002nyy.2	P20916		ENST00000392213.3:c.1026G>A	19.37:g.35793406G>A						MAG_ENST00000392213.3_Silent_p.T342T|MAG_ENST00000537831.2_Silent_p.T317T	p.T342T	NM_080600.2	NP_542167.1	P20916	MAG_HUMAN	Epithelial(14;3.14e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.5e-18)|all cancers(14;1.5e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)		7	1176	+	all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162)	Renal(1328;0.242)	342			Ig-like C2-type 3.		B7Z2E5|F5GYC0|Q567S4	Silent	SNP	ENST00000392213.3	37	c.1026G>A	CCDS12455.1																																																																																				0.577	MAG-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000466071.1	NM_080600		27	47	0	0	0	1	0	27	47					A	35793406	G	A	35793406	2	1	144	1	0	0	0	0	0	0	0	1	9162	1103	39	2		2	MAG	19	35793406	Silent	SNP	G	TCGA-FC-A5OB-01A-11D-A29Q-08	14493637	35793406	23335577	43	7221											
TNFRSF6B	8771	broad.mit.edu	37	chr20	62328731	62328731	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtgccccccaggcaccttcTcagccagcagctccagctca	7	6	8	20	1	2	0	2	0	1	0	4	0	3	0	6	1	5	4	6	1	0	1			TCGA-FC-A5OB-01A-11D-A29Q-08	TCGA-FC-A5OB-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcaa1a41-14fc-43fa-b8d5-fe4b38c53b26	13d967a8-324f-4f11-a766-db89703af761	g.chr20:62328731T>A	ENST00000369996.1	+	2	575	c.475T>A	c.(475-477)Tca>Aca	p.S159T	RTEL1-TNFRSF6B_ENST00000482936.1_3'UTR|ARFRP1_ENST00000485858.1_5'Flank	NM_003823.3	NP_003814.1	O95407	TNF6B_HUMAN	tumor necrosis factor receptor superfamily, member 6b, decoy	159					apoptotic process (GO:0006915)|negative regulation of apoptotic process (GO:0043066)	extracellular space (GO:0005615)	receptor activity (GO:0004872)			central_nervous_system(1)|lung(2)|skin(1)	4	all_cancers(38;4.66e-12)|all_epithelial(29;2.56e-13)|Lung NSC(23;1.06e-08)|all_lung(23;3.34e-08)		Epithelial(9;1.78e-08)|all cancers(9;7.89e-08)|OV - Ovarian serous cystadenocarcinoma(5;0.00504)			AGGCACCTTCTCAGCCAGCAG	0.662																																						ENST00000369996.1																			0				central_nervous_system(1)|lung(2)|skin(1)	4						c.(475-477)Tca>Aca		tumor necrosis factor receptor superfamily, member 6b, decoy							33	29	31					20																	62328731		2181	4280	6461	SO:0001583	missense	8771				anti-apoptosis|apoptosis	extracellular region|soluble fraction	protein binding|receptor activity	g.chr20:62328731T>A	AF104419	CCDS13532.1	20q13.33	2012-06-27						"Tumor necrosis factor receptor superfamily"	11921	protein-coding gene	gene with protein product		603361				9872321, 10318773	Standard	NM_003823		Approved	DcR3, DCR3, TR6, M68	uc002yfz.3	O95407	OTTHUMG00000143724	ENST00000369996.1:c.475T>A	20.37:g.62328731T>A	ENSP00000359013:p.Ser159Thr					RTEL1-TNFRSF6B_ENST00000482936.1_3'UTR	p.S159T	NM_003823.3	NP_003814.1	O95407	TNF6B_HUMAN	Epithelial(9;1.78e-08)|all cancers(9;7.89e-08)|OV - Ovarian serous cystadenocarcinoma(5;0.00504)		2	575	+	all_cancers(38;4.66e-12)|all_epithelial(29;2.56e-13)|Lung NSC(23;1.06e-08)|all_lung(23;3.34e-08)		159						Missense_Mutation	SNP	ENST00000369996.1	37	c.475T>A	CCDS13532.1	.	.	.	.	.	.	.	.	.	.	T	26.9	4.778445	0.90195	.	.	ENSG00000243509	ENST00000370006;ENST00000369996	T	0.65549	-0.16	4.44	4.44	0.53790	TNFR/CD27/30/40/95 cysteine-rich region (2);	.	.	.	.	T	0.78648	0.4316	M	0.90542	3.125	0.25176	N	0.99025	P	0.39551	0.678	P	0.52031	0.688	T	0.72261	-0.4345	9	0.87932	D	0	-26.0544	11.9162	0.52767	0.0:0.0:0.0:1.0	.	159	O95407	TNF6B_HUMAN	T	159	ENSP00000359013:S159T	ENSP00000359010:S159T	S	+	1	0	TNFRSF6B	61799175	0.006000	0.16342	0.948000	0.38648	0.721000	0.41392	0.886000	0.28241	1.640000	0.50565	0.459000	0.35465	TCA		0.662	TNFRSF6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080182.1			11	22	0	0	0	1	0	11	22					A	62328731	T	A	62328731	3	1	144	1	0	0	0	0	1	0	0	0	16295	1551	54	5	481	5	TNFRSF6B	20	62328731	Missense_Mutation	SNP	T	TCGA-FC-A5OB-01A-11D-A29Q-08		62328731	696789	44	7222											
SSTR3	6753	broad.mit.edu	37	chr22	37602836	37602836	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccacagtgggctcctggctgCgcacacggcgggagggccgc	5	4	17	15	4	0	0	0	0	0	0	1	1	1	1	3	5	1	3	3	5	0	0	rs143937169		TCGA-FC-A5OB-01A-11D-A29Q-08	TCGA-FC-A5OB-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcaa1a41-14fc-43fa-b8d5-fe4b38c53b26	13d967a8-324f-4f11-a766-db89703af761	g.chr22:37602836C>T	ENST00000328544.3	-	2	1540	c.1007G>A	c.(1006-1008)cGc>cAc	p.R336H	SSTR3_ENST00000402501.1_Missense_Mutation_p.R336H	NM_001051.3	NP_001042.1	P32745	SSR3_HUMAN	somatostatin receptor 3	336			R -> C (in dbSNP:rs4988469).		cell-cell signaling (GO:0007267)|cellular response to estradiol stimulus (GO:0071392)|cellular response to glucocorticoid stimulus (GO:0071385)|cerebellum development (GO:0021549)|forebrain development (GO:0030900)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|hormone-mediated apoptotic signaling pathway (GO:0008628)|negative regulation of cell proliferation (GO:0008285)|response to starvation (GO:0042594)|somatostatin signaling pathway (GO:0038170)|spermatogenesis (GO:0007283)	ciliary membrane (GO:0060170)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|nonmotile primary cilium (GO:0031513)|plasma membrane (GO:0005886)	somatostatin receptor activity (GO:0004994)			NS(1)|breast(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)	14					Pasireotide(DB06663)	CTCCTGGCTGCGCACACGGCG	0.657																																						ENST00000328544.3																			0				NS(1)|breast(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)	14						c.(1006-1008)cGc>cAc		somatostatin receptor 3		C	HIS/ARG	2,4402		0,2,2200	30	36	34		1007	2.2	0.3	22	dbSNP_134	34	1,8595		0,1,4297	yes	missense	SSTR3	NM_001051.2	29	0,3,6497	TT,TC,CC		0.0116,0.0454,0.0231	possibly-damaging	336/419	37602836	3,12997	2202	4298	6500	SO:0001583	missense	0				G-protein signaling, coupled to cyclic nucleotide second messenger|induction of apoptosis by hormones|negative regulation of cell proliferation	integral to plasma membrane|nonmotile primary cilium	somatostatin receptor activity	g.chr22:37602836C>T		CCDS13944.1	22q13.1	2012-08-08			ENSG00000183473	ENSG00000278195		"GPCR / Class A : Somatostatin receptors"	11332	protein-coding gene	gene with protein product		182453				8449518	Standard	XM_006724311		Approved		uc003arb.3	P32745	OTTHUMG00000150537	ENST00000328544.3:c.1007G>A	22.37:g.37602836C>T	ENSP00000330138:p.Arg336His					SSTR3_ENST00000402501.1_Missense_Mutation_p.R336H	p.R336H	NM_001051.3	NP_001042.1	P32745	SSR3_HUMAN			2	1540	-			336		R -> C (in dbSNP:rs4988469).			A8K550|Q53ZR7	Missense_Mutation	SNP	ENST00000328544.3	37	c.1007G>A	CCDS13944.1	.	.	.	.	.	.	.	.	.	.	C	7.587	0.669886	0.14776	4.54E-4	1.16E-4	ENSG00000183473	ENST00000328544;ENST00000402501	T;T	0.38240	1.15;1.15	5.42	2.17	0.27698	.	0.965284	0.08602	N	0.921288	T	0.32194	0.0821	L	0.60455	1.87	0.09310	N	1	P	0.50156	0.932	B	0.38616	0.277	T	0.20207	-1.0282	10	0.49607	T	0.09	.	7.6597	0.28396	0.0:0.6117:0.0:0.3883	.	336	P32745	SSR3_HUMAN	H	336	ENSP00000330138:R336H;ENSP00000384904:R336H	ENSP00000330138:R336H	R	-	2	0	SSTR3	35932782	0.999000	0.42202	0.259000	0.24435	0.032000	0.12392	1.559000	0.36320	0.659000	0.30945	0.655000	0.94253	CGC		0.657	SSTR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318802.1			34	68	0	0	0	1	0	34	68					T	37602836	C	T	37602836	3	4	144	1	0	0	0	0	1	0	0	0	15198	768	27	1	253	1	SSTR3	22	37602836	Missense_Mutation	SNP	C	TCGA-FC-A5OB-01A-11D-A29Q-08		37602836	13701730	45	7223											
CACNA1F	778	broad.mit.edu	37	chrX	49072961	49072961	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accaggggccgtgacacgtcTccatctgggtataccaggaa	10	7	12	12	2	2	1	0	1	2	0	3	2	2	2	4	4	1	1	4	4	3	2			TCGA-FC-A5OB-01A-11D-A29Q-08	TCGA-FC-A5OB-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcaa1a41-14fc-43fa-b8d5-fe4b38c53b26	13d967a8-324f-4f11-a766-db89703af761	g.chrX:49072961T>G	ENST00000376265.2	-	27	3211	c.3150A>C	c.(3148-3150)ggA>ggC	p.G1050G	CACNA1F_ENST00000376251.1_Silent_p.G985G|CACNA1F_ENST00000323022.5_Silent_p.G1039G	NM_005183.2	NP_005174.2	O60840	CAC1F_HUMAN	calcium channel, voltage-dependent, L type, alpha 1F subunit	1050					axonogenesis (GO:0007409)|calcium ion import (GO:0070509)|cellular calcium ion homeostasis (GO:0006874)|dendrite morphogenesis (GO:0048813)|detection of light stimulus involved in visual perception (GO:0050908)|membrane depolarization during action potential (GO:0086010)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|perikaryon (GO:0043204)|photoreceptor outer segment (GO:0001750)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			autonomic_ganglia(1)|breast(8)|central_nervous_system(3)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(4)|urinary_tract(1)	85					Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Nimodipine(DB00393)|Spironolactone(DB00421)|Verapamil(DB00661)	GTGACACGTCTCCATCTGGGT	0.567																																						ENST00000376265.2																			0				autonomic_ganglia(1)|breast(8)|central_nervous_system(3)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(4)|urinary_tract(1)	85						c.(3148-3150)ggA>ggC		calcium channel, voltage-dependent, L type, alpha 1F subunit	Verapamil(DB00661)						55	44	48					X																	49072961		2203	4300	6503	SO:0001819	synonymous_variant	778				axon guidance|detection of light stimulus involved in visual perception	voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity	g.chrX:49072961T>G	AA019975	CCDS35253.1, CCDS59166.1, CCDS59167.1	Xp11.23	2013-01-23	2007-02-16		ENSG00000102001	ENSG00000102001		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1393	protein-coding gene	gene with protein product		300110	"Aland island eye disease (Forsius-Eriksson ocular albinism, ocular albinism type 2)"	CSNB2, AIED		9344658, 9662400, 16382099, 12111638, 17525176	Standard	NM_005183		Approved	Cav1.4, JM8, JMC8, CSNBX2, CORDX3, CSNB2A, OA2	uc010nip.3	O60840	OTTHUMG00000022703	ENST00000376265.2:c.3150A>C	X.37:g.49072961T>G						CACNA1F_ENST00000376251.1_Silent_p.G985G|CACNA1F_ENST00000323022.5_Silent_p.G1039G	p.G1050G	NM_005183.2	NP_005174.2	O60840	CAC1F_HUMAN			27	3211	-			1050					A6NI29|F5CIQ9|O43901|O95226|Q9UHB1	Silent	SNP	ENST00000376265.2	37	c.3150A>C	CCDS35253.1																																																																																				0.567	CACNA1F-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358157.1	NM_005183		13	1	0	0	0	1	0	13	1					G	49072961	T	G	49072961	2	3	144	1	0	0	0	0	0	0	0	1	2543	1538	54	5		5	CACNA1F	23	49072961	Silent	SNP	T	TCGA-FC-A5OB-01A-11D-A29Q-08		49072961	106197599	46	7224											
NUDT10	170685	broad.mit.edu	37	chrX	51076024	51076024	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtccgagaggtgtacgaagaGgcgggagtcaaggggaagtt	11	6	19	5	3	1	2	1	0	0	2	2	6	2	4	1	5	1	2	1	5	4	2	rs143435240		TCGA-FC-A5OB-01A-11D-A29Q-08	TCGA-FC-A5OB-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcaa1a41-14fc-43fa-b8d5-fe4b38c53b26	13d967a8-324f-4f11-a766-db89703af761	g.chrX:51076024G>A	ENST00000376006.3	+	2	427	c.207G>A	c.(205-207)gaG>gaA	p.E69E	NUDT10_ENST00000356450.2_Silent_p.E69E	NM_153183.2	NP_694853.1	Q9BW91	NUDT9_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 10	234					ADP catabolic process (GO:0046032)|IDP catabolic process (GO:0046709)|nucleobase-containing small molecule catabolic process (GO:0034656)|nucleobase-containing small molecule metabolic process (GO:0055086)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|mitochondrial matrix (GO:0005759)	adenosine-diphosphatase activity (GO:0043262)|ADP-ribose diphosphatase activity (GO:0047631)|ADP-sugar diphosphatase activity (GO:0019144)	p.E69E(8)		cervix(1)|endometrium(8)|kidney(1)|large_intestine(1)|lung(1)|prostate(3)|upper_aerodigestive_tract(1)	16	Ovarian(276;0.236)					TGTACGAAGAGGCGGGAGTCA	0.657																																					NSCLC(90;1817 2035 37909 38249)	ENST00000376006.3																			8	Substitution - coding silent(8)	p.E69E(8)	endometrium(5)|cervix(1)|prostate(1)|lung(1)	cervix(1)|endometrium(8)|kidney(1)|large_intestine(1)|lung(1)|prostate(3)|upper_aerodigestive_tract(1)	16						c.(205-207)gaG>gaA		nudix (nucleoside diphosphate linked moiety X)-type motif 10							52	62	59					X																	51076024		2203	4300	6503	SO:0001819	synonymous_variant	170685					cytoplasm	diphosphoinositol-polyphosphate diphosphatase activity|metal ion binding	g.chrX:51076024G>A	AF469196	CCDS35278.1	Xp11.22-p11.1	2014-05-20			ENSG00000122824	ENSG00000122824		"Nudix motif containing"	17621	protein-coding gene	gene with protein product		300527				12105228	Standard	NM_153183		Approved	DIPP3a, hDIPP3alpha	uc004dph.3	Q8NFP7	OTTHUMG00000021530	ENST00000376006.3:c.207G>A	X.37:g.51076024G>A						NUDT10_ENST00000356450.2_Silent_p.E69E	p.E69E	NM_153183.2	NP_694853.1	Q8NFP7	NUD10_HUMAN			2	427	+	Ovarian(276;0.236)		69			Nudix hydrolase.		Q8NBN1|Q8NCB9|Q8NG25	Silent	SNP	ENST00000376006.3	37	c.207G>A	CCDS35278.1																																																																																				0.657	NUDT10-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056578.1	NM_153183		3	29	0	0	0	1	0	3	29					A	51076024	G	A	51076024	2	1	144	1	0	0	0	0	0	0	0	1	10726	991	35	3		3	NUDT10	23	51076024	Silent	SNP	G	TCGA-FC-A5OB-01A-11D-A29Q-08	2003063	51076024	104194536	47	7225											
HIST1H2BK	85236	broad.mit.edu	37	chr6	27114417	27114417	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ccatggccttagaggagatgCcggtgtcggggtggacctgc	6	8	17	10	2	0	2	0	0	0	2	1	4	0	3	4	6	2	0	4	6	1	1			TCGA-FC-A66V-01A-21D-A30E-08	TCGA-FC-A66V-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0108ed61-8918-4ab9-b932-05cfd43ab22e	61d23977-669f-4308-8e10-682b9c3c969d	g.chr6:27114417C>T	ENST00000356950.1	-	1	160	c.161G>A	c.(160-162)gGc>gAc	p.G54D	HIST1H2AH_ENST00000377459.1_5'Flank|HIST1H2BK_ENST00000396891.4_Missense_Mutation_p.G54D|MIR3143_ENST00000584253.1_RNA			O60814	H2B1K_HUMAN	histone cluster 1, H2bk	54					antibacterial humoral response (GO:0019731)|chromatin organization (GO:0006325)|defense response to Gram-positive bacterium (GO:0050830)|innate immune response in mucosa (GO:0002227)	extracellular space (GO:0005615)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	13						AGAGGAGATGCCGGTGTCGGG	0.582																																						ENST00000396891.4																			0				breast(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	13						c.(160-162)gGc>gAc		histone cluster 1, H2bk							106	96	99					6																	27114417		2203	4296	6499	SO:0001583	missense	85236				defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr6:27114417C>T	AJ223352	CCDS4621.1	6p22.1	2011-01-27	2006-10-11	2003-02-28	ENSG00000197903	ENSG00000197903		"Histones / Replication-dependent"	13954	protein-coding gene	gene with protein product		615045	"H2B histone family, member T", "histone 1, H2bk"	H2BFT		12408966	Standard	NM_080593		Approved	H2BFAiii	uc003nix.2	O60814	OTTHUMG00000014473	ENST00000356950.1:c.161G>A	6.37:g.27114417C>T	ENSP00000349430:p.Gly54Asp					HIST1H2BK_ENST00000356950.1_Missense_Mutation_p.G54D	p.G54D	NM_080593.2	NP_542160.1	O60814	H2B1K_HUMAN			1	202	-			54					A8K7P7|Q2VPI7	Missense_Mutation	SNP	ENST00000356950.1	37	c.161G>A	CCDS4621.1	.	.	.	.	.	.	.	.	.	.	.	23.2	4.382839	0.82792	.	.	ENSG00000197903	ENST00000396891;ENST00000356950	T;T	0.69435	-0.4;-0.4	4.05	3.14	0.36123	Histone-fold (2);Histone core (1);	.	.	.	.	D	0.84817	0.5556	H	0.98487	4.245	0.46317	D	0.998988	D	0.71674	0.998	D	0.72075	0.976	D	0.89042	0.3449	9	0.87932	D	0	.	11.8762	0.52548	0.0:0.821:0.179:0.0	.	54	O60814	H2B1K_HUMAN	D	54	ENSP00000380100:G54D;ENSP00000349430:G54D	ENSP00000349430:G54D	G	-	2	0	HIST1H2BK	27222396	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.198000	0.65147	0.961000	0.38030	0.650000	0.86243	GGC		0.582	HIST1H2BK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040141.1	NM_080593		5	293	0	0	0	1	0	5	293					T	27114417	C	T	27114417	3	4	145	1	0	0	0	0	1	0	0	0	7150	739	26	3	223	3	HIST1H2BK	6	27114417	Missense_Mutation	SNP	C	TCGA-FC-A66V-01A-21D-A30E-08		27114417	144000650	1	7226											
TMEM223	79064	broad.mit.edu	37	chr11	62559255	62559255	+	Frame_Shift_Del	DEL	G	G	-																															ccagaggctgcaccggaaccGggggccgggacacggctgcc																										TCGA-FC-A66V-01A-21D-A30E-08	TCGA-FC-A66V-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0108ed61-8918-4ab9-b932-05cfd43ab22e	61d23977-669f-4308-8e10-682b9c3c969d	g.chr11:62559255delG	ENST00000307366.7	-	1	238	c.212delC	c.(211-213)ccgfs	p.P71fs	TMEM223_ENST00000525631.1_Frame_Shift_Del_p.P71fs|TMEM223_ENST00000527073.1_5'Flank|NXF1_ENST00000533048.1_5'Flank	NM_001080501.2	NP_001073970.1	A0PJW6	TM223_HUMAN	transmembrane protein 223	71						integral component of membrane (GO:0016021)											CACCGGAACCGGGGGCCGGGA	0.706																																						ENST00000307366.7																			0											c.(211-213)cgfs		transmembrane protein 223							11	19	16					11																	62559255		1848	4047	5895	SO:0001589	frameshift_variant	79064					integral to membrane		g.chr11:62559255delG		CCDS44628.1	11q12.3	2008-12-08				ENSG00000168569			28464	protein-coding gene	gene with protein product							Standard	NM_001080501		Approved	MGC3196	uc001nve.2	A0PJW6		ENST00000307366.7:c.212delC	11.37:g.62559255delG	ENSP00000303987:p.Pro71fs					TMEM223_ENST00000525631.1_Frame_Shift_Del_p.P71fs	p.P71fs	NM_001080501.2	NP_001073970.1	A0PJW6	TM223_HUMAN			1	238	-			71					Q504S0|Q86YD4|Q8WUC5|Q96HG0	Frame_Shift_Del	DEL	ENST00000307366.7	37	c.212delC	CCDS44628.1																																																																																				0.706	TMEM223-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395674.1			2	4						2	4	---	---	---	---	-	62559255	G	-	62559255	7	5	145	1	0	1	0	1	0	0	0	0	16143	1116	39	0	404	0	TMEM223	11	62559255	Frame_Shift_Del	DEL	G	TCGA-FC-A66V-01A-21D-A30E-08		62559255	72447261	2	7227											
ALDH3B1	221	broad.mit.edu	37	chr11	67782802	67782802	+	Frame_Shift_Del	DEL	G	G	-																															ggacacgctgcggcgactgcGggaggccttccacgcggggc																										TCGA-FC-A66V-01A-21D-A30E-08	TCGA-FC-A66V-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0108ed61-8918-4ab9-b932-05cfd43ab22e	61d23977-669f-4308-8e10-682b9c3c969d	g.chr11:67782802delG	ENST00000539229.1	+	2	151	c.35delG	c.(34-36)cggfs	p.R12fs	ALDH3B1_ENST00000316367.6_Frame_Shift_Del_p.R12fs|ALDH3B1_ENST00000342456.6_Frame_Shift_Del_p.R12fs|ALDH3B1_ENST00000434449.1_3'UTR|ALDH3B1_ENST00000007633.8_Frame_Shift_Del_p.R12fs	NM_001161473.1	NP_001154945.1	P43353	AL3B1_HUMAN	aldehyde dehydrogenase 3 family, member B1	12					alcohol metabolic process (GO:0006066)|aldehyde catabolic process (GO:0046185)|cellular response to oxidative stress (GO:0034599)|ethanol catabolic process (GO:0006068)|lipid metabolic process (GO:0006629)|oxidation-reduction process (GO:0055114)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	3-chloroallyl aldehyde dehydrogenase activity (GO:0004028)|aldehyde dehydrogenase [NAD(P)+] activity (GO:0004030)										CGGCGACTGCGGGAGGCCTTC	0.687																																						ENST00000539229.1																			0											c.(34-36)cgfs		aldehyde dehydrogenase 3 family, member B1	NADH(DB00157)						7	9	9					11																	67782802		1974	4062	6036	SO:0001589	frameshift_variant	221				alcohol metabolic process|cellular aldehyde metabolic process|lipid metabolic process		3-chloroallyl aldehyde dehydrogenase activity|aldehyde dehydrogenase	g.chr11:67782802delG	U10868	CCDS73335.1, CCDS73336.1	11q13	2010-04-27			ENSG00000006534	ENSG00000006534	1.2.1.5	"Aldehyde dehydrogenases"	410	protein-coding gene	gene with protein product	"aldehyde dehydrogenase 7", "aldehyde dehydrogenase 3B1"	600466		ALDH7		9161417, 7828891	Standard	NM_000694		Approved		uc001ona.3	P43353	OTTHUMG00000154910	ENST00000539229.1:c.35delG	11.37:g.67782802delG	ENSP00000474034:p.Arg12fs					ALDH3B1_ENST00000316367.6_Frame_Shift_Del_p.R12fs|ALDH3B1_ENST00000342456.6_Frame_Shift_Del_p.R12fs|ALDH3B1_ENST00000434449.1_3'UTR|ALDH3B1_ENST00000007633.8_Frame_Shift_Del_p.R12fs	p.R12fs	NM_001161473.1	NP_001154945.1	P43353	AL3B1_HUMAN			2	151	+			12					A3FMP9|Q53XL5|Q8N515|Q96CK8	Frame_Shift_Del	DEL	ENST00000539229.1	37	c.35delG																																																																																					0.687	ALDH3B1-204	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_000694		2	4						2	4	---	---	---	---	-	67782802	G	-	67782802	7	5	145	1	0	1	0	1	0	0	0	0	499	1116	39	0	37	0	ALDH3B1	11	67782802	Frame_Shift_Del	DEL	G	TCGA-FC-A66V-01A-21D-A30E-08	5223547	67782802	67223714	3	7228											
FOXA1	3169	broad.mit.edu	37	chr14	38060702	38060702	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctggcgggcaacgtagagccGtaaggcgagtattgcagtgc	9	7	16	9	4	0	1	0	0	0	1	0	2	0	1	1	3	4	5	1	3	4	4			TCGA-FC-A66V-01A-21D-A30E-08	TCGA-FC-A66V-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0108ed61-8918-4ab9-b932-05cfd43ab22e	61d23977-669f-4308-8e10-682b9c3c969d	g.chr14:38060702G>A	ENST00000250448.2	-	2	1348	c.1287C>T	c.(1285-1287)taC>taT	p.Y429Y	FOXA1_ENST00000540786.1_Silent_p.Y396Y|FOXA1_ENST00000545425.2_5'UTR	NM_004496.3	NP_004487.2	P55317	FOXA1_HUMAN	forkhead box A1	429					anatomical structure formation involved in morphogenesis (GO:0048646)|chromatin remodeling (GO:0006338)|dorsal/ventral neural tube patterning (GO:0021904)|epithelial cell maturation involved in prostate gland development (GO:0060743)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|epithelial-mesenchymal signaling involved in prostate gland development (GO:0060738)|glucose homeostasis (GO:0042593)|hormone metabolic process (GO:0042445)|lung epithelial cell differentiation (GO:0060487)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron fate specification (GO:0048665)|positive regulation of cell-cell adhesion mediated by cadherin (GO:2000049)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prostate gland epithelium morphogenesis (GO:0060740)|prostate gland stromal morphogenesis (GO:0060741)|response to estradiol (GO:0032355)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)	microvillus (GO:0005902)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|endometrium(1)|large_intestine(2)|lung(3)|prostate(12)	19	Breast(36;0.0954)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		Lung(238;5.41e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0454)|LUSC - Lung squamous cell carcinoma(13;0.0917)|all cancers(34;0.0925)|BRCA - Breast invasive adenocarcinoma(188;0.239)	GBM - Glioblastoma multiforme(112;0.0222)		ACGTAGAGCCGTAAGGCGAGT	0.607																																						ENST00000250448.2																			0				breast(1)|endometrium(1)|large_intestine(2)|lung(3)|prostate(12)	19						c.(1285-1287)taC>taT		forkhead box A1							106	88	94					14																	38060702		2203	4300	6503	SO:0001819	synonymous_variant	3169				chromatin remodeling|embryo development|epithelial cell maturation involved in prostate gland development|epithelial tube branching involved in lung morphogenesis|epithelial-mesenchymal signaling involved in prostate gland development|glucose homeostasis|lung epithelial cell differentiation|negative regulation of survival gene product expression|neuron fate specification|pattern specification process|positive regulation of estrogen receptor signaling pathway|positive regulation of mitotic cell cycle|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|prostate gland epithelium morphogenesis|prostate gland stromal morphogenesis|response to estradiol stimulus|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development	transcription factor complex	DNA bending activity|double-stranded DNA binding|protein domain specific binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding	g.chr14:38060702G>A	U39840	CCDS9665.1	14q12-q13	2008-04-10		2002-09-20	ENSG00000129514	ENSG00000129514		"Forkhead boxes"	5021	protein-coding gene	gene with protein product		602294	"hepatocyte nuclear factor 3, alpha"	HNF3A		9119385, 8652662	Standard	NM_004496		Approved		uc001wuf.4	P55317	OTTHUMG00000140253	ENST00000250448.2:c.1287C>T	14.37:g.38060702G>A						FOXA1_ENST00000540786.1_Silent_p.Y396Y|FOXA1_ENST00000545425.2_5'UTR	p.Y429Y	NM_004496.3	NP_004487.2	P55317	FOXA1_HUMAN	Lung(238;5.41e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0454)|LUSC - Lung squamous cell carcinoma(13;0.0917)|all cancers(34;0.0925)|BRCA - Breast invasive adenocarcinoma(188;0.239)	GBM - Glioblastoma multiforme(112;0.0222)	2	1348	-	Breast(36;0.0954)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		429					B2R9H6|B7ZAP5|Q9H2A0	Silent	SNP	ENST00000250448.2	37	c.1287C>T	CCDS9665.1																																																																																				0.607	FOXA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276735.1			4	64	0	0	0	1	0	4	64					A	38060702	G	A	38060702	2	1	145	1	0	0	0	0	0	0	0	1	5989	1140	40	1		1	FOXA1	14	38060702	Silent	SNP	G	TCGA-FC-A66V-01A-21D-A30E-08		38060702	69288838	4	7229											
SLC12A3	6559	broad.mit.edu	37	chr16	56938317	56938317	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcccgcccagtcccttcggcAggtgaggctgaatgagattg	7	9	13	12	2	0	3	0	3	0	1	3	4	2	3	3	3	0	2	3	3	1	2			TCGA-FC-A66V-01A-21D-A30E-08	TCGA-FC-A66V-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0108ed61-8918-4ab9-b932-05cfd43ab22e	61d23977-669f-4308-8e10-682b9c3c969d	g.chr16:56938317A>G	ENST00000563236.1	+	25	2892	c.2867A>G	c.(2866-2868)cAg>cGg	p.Q956R	SLC12A3_ENST00000566786.1_Missense_Mutation_p.Q964R|SLC12A3_ENST00000438926.2_Missense_Mutation_p.Q965R|SLC12A3_ENST00000262502.5_Missense_Mutation_p.Q955R			P55017	S12A3_HUMAN	solute carrier family 12 (sodium/chloride transporter), member 3	956					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	sodium:chloride symporter activity (GO:0015378)|transporter activity (GO:0005215)			breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(28)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50					Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Metolazone(DB00524)|Polythiazide(DB01324)|Quinethazone(DB01325)	TCCCTTCGGCAGGTGAGGCTG	0.537																																						ENST00000438926.2																			0				breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(28)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50						c.(2893-2895)cAg>cGg		solute carrier family 12 (sodium/chloride transporter), member 3	Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Metolazone(DB00524)|Polythiazide(DB01324)|Quinethazone(DB01325)						153	146	148					16																	56938317		2198	4300	6498	SO:0001583	missense	0				sodium ion transmembrane transport	apical plasma membrane|integral to plasma membrane|membrane fraction	sodium:chloride symporter activity	g.chr16:56938317A>G		CCDS10770.1, CCDS45491.1, CCDS58464.1	16q13	2013-07-18	2013-07-18		ENSG00000070915	ENSG00000070915		"Solute carriers"	10912	protein-coding gene	gene with protein product		600968				8812482	Standard	NM_000339		Approved	NCCT	uc002ekd.4	P55017	OTTHUMG00000133284	ENST00000563236.1:c.2867A>G	16.37:g.56938317A>G	ENSP00000456149:p.Gln956Arg					SLC12A3_ENST00000566786.1_Missense_Mutation_p.Q964R|SLC12A3_ENST00000262502.5_Missense_Mutation_p.Q955R|SLC12A3_ENST00000563236.1_Missense_Mutation_p.Q956R	p.Q965R	NM_000339.2|NM_001126107.1|NM_001126108.1	NP_000330.2|NP_001119579.1|NP_001119580.1	P55017	S12A3_HUMAN			25	2923	+			956					A8MSJ2|C9JNN9	Missense_Mutation	SNP	ENST00000563236.1	37	c.2894A>G	CCDS58464.1	.	.	.	.	.	.	.	.	.	.	A	24.9	4.576515	0.86645	.	.	ENSG00000070915	ENST00000438926;ENST00000262502	.	.	.	5.37	5.37	0.77165	.	0.000000	0.85682	D	0.000000	T	0.76652	0.4017	M	0.88640	2.97	0.58432	D	0.999997	D;P;P	0.53745	0.962;0.695;0.798	P;B;P	0.52672	0.706;0.313;0.511	T	0.81475	-0.0916	9	0.56958	D	0.05	.	14.2153	0.65788	1.0:0.0:0.0:0.0	.	964;956;965	P55017-3;P55017;P55017-2	.;S12A3_HUMAN;.	R	964;965	.	ENSP00000262502:Q965R	Q	+	2	0	SLC12A3	55495818	1.000000	0.71417	1.000000	0.80357	0.817000	0.46193	8.997000	0.93544	2.027000	0.59764	0.460000	0.39030	CAG		0.537	SLC12A3-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000432337.1			4	136	0	0	0	1	0	4	136					G	56938317	A	G	56938317	3	3	145	1	0	0	0	0	1	0	0	0	14384	188	7	4	2992	4	SLC12A3	16	56938317	Missense_Mutation	SNP	A	TCGA-FC-A66V-01A-21D-A30E-08		56938317	33416436	5	7230											
EMID1	129080	broad.mit.edu	37	chr22	29628273	29628273	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ggccccccagggagccctggCcgggctggagctgtgggcac	4	4	18	15	1	0	0	0	0	0	0	0	2	0	2	5	6	2	3	5	6	0	0			TCGA-FC-A66V-01A-21D-A30E-08	TCGA-FC-A66V-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0108ed61-8918-4ab9-b932-05cfd43ab22e	61d23977-669f-4308-8e10-682b9c3c969d	g.chr22:29628273C>T	ENST00000404820.3	+	8	832	c.705C>T	c.(703-705)ggC>ggT	p.G235G	EMID1_ENST00000484039.1_3'UTR|EMID1_ENST00000404755.3_Silent_p.G235G|EMID1_ENST00000334018.6_Silent_p.G235G			Q96A84	EMID1_HUMAN	EMI domain containing 1	233	Collagen-like.					collagen trimer (GO:0005581)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(2)|skin(3)	12						GGAGCCCTGGCCGGGCTGGAG	0.697																																						ENST00000334018.6																			0				NS(1)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(2)|skin(3)	12						c.(703-705)ggC>ggT		EMI domain containing 1							22	28	26					22																	29628273		2164	4221	6385	SO:0001819	synonymous_variant	129080					collagen		g.chr22:29628273C>T	AJ416090	CCDS33630.1	22q12.2	2009-08-04			ENSG00000186998	ENSG00000186998		"EMI domain containing"	18036	protein-coding gene	gene with protein product	"emilin and multimerin-domain containing protein 1", "putative emu1"	608926				12221002	Standard	NM_001267895		Approved	EMU1, hEmu1, EMI5	uc003aem.4	Q96A84	OTTHUMG00000151013	ENST00000404820.3:c.705C>T	22.37:g.29628273C>T						EMID1_ENST00000404755.3_Silent_p.G235G|EMID1_ENST00000404820.3_Silent_p.G235G|EMID1_ENST00000484039.1_3'UTR	p.G235G	NM_001267895.1|NM_133455.3	NP_001254824.1|NP_597712.2	Q96A84	EMID1_HUMAN			8	893	+			233			Collagen-like.		B0QYK6|Q6ICG1|Q86SS7	Silent	SNP	ENST00000404820.3	37	c.705C>T		.	.	.	.	.	.	.	.	.	.	C	10.34	1.323237	0.24080	.	.	ENSG00000186998	ENST00000433143	.	.	.	4.85	3.75	0.43078	.	.	.	.	.	T	0.49167	0.1541	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.44605	-0.9317	4	.	.	.	-11.5436	5.2502	0.15517	0.0:0.812:0.0:0.188	.	.	.	.	V	98	.	.	A	+	2	0	EMID1	27958273	0.426000	0.25506	0.999000	0.59377	0.969000	0.65631	0.070000	0.14573	2.249000	0.74217	0.555000	0.69702	GCC		0.697	EMID1-002	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000321075.1	NM_133455		4	69	0	0	0	1	0	4	69					T	29628273	C	T	29628273	2	4	145	1	0	0	0	0	0	0	0	1	5091	726	26	3		3	EMID1	22	29628273	Silent	SNP	C	TCGA-FC-A66V-01A-21D-A30E-08		29628273	21676293	6	7231											
POU3F1	5453	broad.mit.edu	37	chr1	38512169	38512171	+	In_Frame_Del	DEL	CGC	CGC	-																															gtgcgggccgccggcccaatCgccgccgccgcctcctcccg																										TCGA-FC-A6HD-01A-11D-A31L-08	TCGA-FC-A6HD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b784d464-ed48-4b7e-ae31-b3fe20d63594	955bd0b6-b0f9-4092-9509-d09a7c632fd1	g.chr1:38512169_38512171delCGC	ENST00000373012.2	-	1	279_281	c.245_247delGCG	c.(244-249)ggcgat>gat	p.G82del	RP5-884C9.2_ENST00000432922.1_lincRNA	NM_002699.3	NP_002690.3	Q03052	PO3F1_HUMAN	POU class 3 homeobox 1	82	Gly-rich.				axon ensheathment (GO:0008366)|forebrain development (GO:0030900)|keratinocyte differentiation (GO:0030216)|myelination in peripheral nervous system (GO:0022011)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription, DNA-templated (GO:0045893)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	RNA polymerase II transcription coactivator activity (GO:0001105)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(1)|lung(1)|upper_aerodigestive_tract(1)	3	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				CCGGCCCAATCGCCGCCGCCGCC	0.773																																						ENST00000373012.2																			0				cervix(1)|lung(1)|upper_aerodigestive_tract(1)	3						c.(244-249)gat>g		POU class 3 homeobox 1																																				SO:0001651	inframe_deletion	5453				positive regulation of transcription, DNA-dependent		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr1:38512169_38512171delCGC	L26494	CCDS30679.1	1p34.3	2011-06-20	2007-07-13		ENSG00000185668	ENSG00000185668		"Homeoboxes / POU class"	9214	protein-coding gene	gene with protein product		602479	"POU domain class 3, transcription factor 1"	OTF6		8451175	Standard	NM_002699		Approved	OCT6, SCIP	uc001ccp.1	Q03052	OTTHUMG00000000485	ENST00000373012.2:c.245_247delGCG	1.37:g.38512178_38512180delCGC	ENSP00000362103:p.Gly82del						p.GD82del	NM_002699.3	NP_002690.3	Q03052	PO3F1_HUMAN			1	279_281	-	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)	82			Gly-rich.		Q5TAG2	In_Frame_Del	DEL	ENST00000373012.2	37	c.245_247delGCG	CCDS30679.1																																																																																				0.773	POU3F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001213.1	NM_002699		2	4						2	4	---	---	---	---	-	38512171	CGC	-	38512169	7	5	146	1	0	1	0	1	0	0	0	0	12274	884	31	0	1112	0	POU3F1	1	38512169	In_Frame_Del	DEL	CGC	TCGA-FC-A6HD-01A-11D-A31L-08		38512169	210738452	1	7232											
PTGFR	5737	broad.mit.edu	37	chr1	78959037	78959037	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gaagatagattttatcttctActtttttcttttctggggct	7	21	7	6	0	4	2	0	0	4	2	4	3	4	2	0	2	1	1	0	2	4	10			TCGA-FC-A6HD-01A-11D-A31L-08	TCGA-FC-A6HD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b784d464-ed48-4b7e-ae31-b3fe20d63594	955bd0b6-b0f9-4092-9509-d09a7c632fd1	g.chr1:78959037A>C	ENST00000370757.3	+	2	846	c.609A>C	c.(607-609)ctA>ctC	p.L203L	PTGFR_ENST00000370758.1_Silent_p.L203L|PTGFR_ENST00000370756.3_Silent_p.L203L	NM_000959.3	NP_000950.1	P43088	PF2R_HUMAN	prostaglandin F receptor (FP)	203					calcium-mediated signaling using intracellular calcium source (GO:0035584)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of apoptotic process (GO:0043066)|parturition (GO:0007567)|response to lipopolysaccharide (GO:0032496)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	prostaglandin F receptor activity (GO:0004958)			breast(6)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	33				Colorectal(170;0.248)	Bimatoprost(DB00905)|Dinoprost Tromethamine(DB01160)|Latanoprost(DB00654)|Tafluprost(DB08819)|Travoprost(DB00287)	TTTATCTTCTACTTTTTTCTT	0.393																																						ENST00000370756.3																			0				breast(6)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	33						c.(607-609)ctA>ctC		prostaglandin F receptor (FP)	Bimatoprost(DB00905)|Latanoprost(DB00654)|Travoprost(DB00287)						71	76	74					1																	78959037		2203	4300	6503	SO:0001819	synonymous_variant	5737				parturition	extracellular region|integral to plasma membrane	prostaglandin F receptor activity	g.chr1:78959037A>C	AF004021	CCDS686.1, CCDS30759.1	1p31.1	2012-08-08			ENSG00000122420	ENSG00000122420		"GPCR / Class A : Prostanoid receptors"	9600	protein-coding gene	gene with protein product		600563				8300593, 7759114	Standard	XM_006710781		Approved	FP	uc001din.3	P43088	OTTHUMG00000009644	ENST00000370757.3:c.609A>C	1.37:g.78959037A>C						PTGFR_ENST00000370757.3_Silent_p.L203L|PTGFR_ENST00000370758.1_Silent_p.L203L	p.L203L	NM_001039585.1	NP_001034674.1	P43088	PF2R_HUMAN		Colorectal(170;0.248)	2	846	+			203					A8K9Y0|Q2KHP3|Q6RYQ6|Q9P1X4	Silent	SNP	ENST00000370757.3	37	c.609A>C	CCDS686.1																																																																																				0.393	PTGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026582.1	NM_000959		26	45	0	0	0	1	0	26	45					C	78959037	A	C	78959037	2	2	146	1	0	0	0	0	0	0	0	1	12749	378	14	5		5	PTGFR	1	78959037	Silent	SNP	A	TCGA-FC-A6HD-01A-11D-A31L-08	40446868	78959037	170291584	2	7233											
SPRR2E	6704	broad.mit.edu	37	chr1	153066083	153066083	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aggacatttttgctggcactGctgaggtgggcagggctgtg	6	11	17	7	0	0	1	0	1	0	0	0	2	0	2	0	5	2	5	0	5	0	2			TCGA-FC-A6HD-01A-11D-A31L-08	TCGA-FC-A6HD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b784d464-ed48-4b7e-ae31-b3fe20d63594	955bd0b6-b0f9-4092-9509-d09a7c632fd1	g.chr1:153066083G>T	ENST00000368751.1	-	2	219	c.145C>A	c.(145-147)Cag>Aag	p.Q49K	SPRR2B_ENST00000368752.4_Intron|SPRR2E_ENST00000368750.3_Missense_Mutation_p.Q49K			P22531	SPR2E_HUMAN	small proline-rich protein 2E	49					epidermis development (GO:0008544)|keratinization (GO:0031424)	cornified envelope (GO:0001533)|cytoplasm (GO:0005737)	structural molecule activity (GO:0005198)			NS(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)	14	Lung NSC(65;1.49e-28)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			TGCTGGCACTGCTGAGGTGGG	0.592																																						ENST00000368751.1																			0				NS(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)	14						c.(145-147)Cag>Aag		small proline-rich protein 2E							208	203	204					1																	153066083		2203	4300	6503	SO:0001583	missense	6704				keratinization	cornified envelope|cytoplasm	protein binding|structural molecule activity	g.chr1:153066083G>T	AF333955	CCDS30866.1	1q21-q22	2008-02-05			ENSG00000203785	ENSG00000203785			11265	protein-coding gene	gene with protein product						8325635	Standard	NM_001024209		Approved		uc001fbh.3	P22531	OTTHUMG00000014397	ENST00000368751.1:c.145C>A	1.37:g.153066083G>T	ENSP00000357740:p.Gln49Lys					SPRR2B_ENST00000368752.4_Intron|SPRR2E_ENST00000368750.3_Missense_Mutation_p.Q49K	p.Q49K			P22531	SPR2E_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		2	219	-	Lung NSC(65;1.49e-28)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		49					Q5T9T4|Q96RM2	Missense_Mutation	SNP	ENST00000368751.1	37	c.145C>A	CCDS30866.1	.	.	.	.	.	.	.	.	.	.	G	4.501	0.092839	0.08632	.	.	ENSG00000203785	ENST00000368751;ENST00000368750	T;T	0.27557	1.66;1.66	2.88	-2.22	0.06952	.	.	.	.	.	T	0.03564	0.0102	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.42616	-0.9441	8	0.14656	T	0.56	.	3.1244	0.06402	0.2464:0.0:0.4355:0.3181	.	49	P22531	SPR2E_HUMAN	K	49	ENSP00000357740:Q49K;ENSP00000357739:Q49K	ENSP00000357739:Q49K	Q	-	1	0	SPRR2E	151332707	0.000000	0.05858	0.000000	0.03702	0.014000	0.08584	0.108000	0.15396	-0.655000	0.05387	-0.491000	0.04670	CAG		0.592	SPRR2E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040054.1			74	239	1	0	1.2582e-26	1	1.35688e-26	74	239					T	153066083	G	T	153066083	3	4	146	1	0	0	0	0	1	0	0	0	15099	1328	46	5	77	5	SPRR2E	1	153066083	Missense_Mutation	SNP	G	TCGA-FC-A6HD-01A-11D-A31L-08	74107046	153066083	96184538	3	7234											
ZBTB41	360023	broad.mit.edu	37	chr1	197128614	197128637	+	In_Frame_Del	DEL	TATTTGCAGGTTGAGGAGTAAGAG	TATTTGCAGGTTGAGGAGTAAGAG	-																															aggtcgaactgggtgaactaTatttgcaggttgaggagtaa																								rs35114924		TCGA-FC-A6HD-01A-11D-A31L-08	TCGA-FC-A6HD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b784d464-ed48-4b7e-ae31-b3fe20d63594	955bd0b6-b0f9-4092-9509-d09a7c632fd1	g.chr1:197128614_197128637delTATTTGCAGGTTGAGGAGTAAGAG	ENST00000367405.4	-	10	2650_2673	c.2582_2605delCTCTTACTCCTCAACCTGCAAATA	c.(2581-2607)actcttactcctcaacctgcaaatata>ata	p.TLTPQPAN861del	ZBTB41_ENST00000467322.1_5'UTR	NM_194314.2	NP_919290.2	Q5SVQ8	ZBT41_HUMAN	zinc finger and BTB domain containing 41	861					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(11)|lung(11)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)	40						GGGTGAACTATATTTGCAGGTTGAGGAGTAAGAGTATATTTTTC	0.42																																						ENST00000367405.4																			0				NS(2)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(11)|lung(11)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)	40						c.(2581-2607)ata>a		zinc finger and BTB domain containing 41																																				SO:0001651	inframe_deletion	360023				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:197128614_197128637delTATTTGCAGGTTGAGGAGTAAGAG		CCDS30960.1	1q31.3	2013-01-08			ENSG00000177888	ENSG00000177888		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	24819	protein-coding gene	gene with protein product							Standard	NM_194314		Approved	FRBZ1, FLJ36199, DKFZp686C06120, ZNF924	uc001gtx.1	Q5SVQ8	OTTHUMG00000036275	ENST00000367405.4:c.2582_2605delCTCTTACTCCTCAACCTGCAAATA	1.37:g.197128614_197128637delTATTTGCAGGTTGAGGAGTAAGAG	ENSP00000356375:p.Thr861_Asn868del					ZBTB41_ENST00000467322.1_5'UTR	p.TLTPQPANI861del	NM_194314.2	NP_919290.2	Q5SVQ8	ZBT41_HUMAN			10	2650_2673	-			861					A2RUA8|Q6MZT8|Q6ZR25|Q7Z4T1|Q8IZ99	In_Frame_Del	DEL	ENST00000367405.4	37	c.2582_2605delCTCTTACTCCTCAACCTGCAAATA	CCDS30960.1																																																																																				0.42	ZBTB41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088249.2	NM_194314		19	187						19	187	---	---	---	---	-	197128637	TATTTGCAGGTTGAGGAGTAAGAG	-	197128614	7	5	146	1	0	1	0	1	0	0	0	0	17540	1406	49	0	128	0	ZBTB41	1	197128614	In_Frame_Del	DEL	TATTTGCAGGTTGAGGAGTAAGAG	TCGA-FC-A6HD-01A-11D-A31L-08	44062531	197128614	52122007	4	7235											
CACNA1S	779	broad.mit.edu	37	chr1	201047221	201047221	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaagagggacagcagcacccGgttggcaatgtctgtagggt	10	7	16	8	1	1	1	0	0	1	1	1	3	1	2	1	4	2	5	1	4	3	2			TCGA-FC-A6HD-01A-11D-A31L-08	TCGA-FC-A6HD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b784d464-ed48-4b7e-ae31-b3fe20d63594	955bd0b6-b0f9-4092-9509-d09a7c632fd1	g.chr1:201047221G>A	ENST00000362061.3	-	11	1631	c.1405C>T	c.(1405-1407)Cgg>Tgg	p.R469W	CACNA1S_ENST00000367338.3_Missense_Mutation_p.R469W	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	469					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport (GO:0006816)|endoplasmic reticulum organization (GO:0007029)|extraocular skeletal muscle development (GO:0002074)|membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|myoblast fusion (GO:0007520)|neuromuscular junction development (GO:0007528)|skeletal muscle adaptation (GO:0043501)|skeletal muscle fiber development (GO:0048741)|skeletal system development (GO:0001501)|striated muscle contraction (GO:0006941)	cytoplasm (GO:0005737)|I band (GO:0031674)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	AGCAGCACCCGGTTGGCAATG	0.587																																						ENST00000362061.3																			0				NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102						c.(1405-1407)Cgg>Tgg		calcium channel, voltage-dependent, L type, alpha 1S subunit	Magnesium Sulfate(DB00653)|Verapamil(DB00661)						111	107	108					1																	201047221		2203	4300	6503	SO:0001583	missense	779				axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity	g.chr1:201047221G>A	L33798	CCDS1407.1	1q32	2012-03-07			ENSG00000081248	ENSG00000081248		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1397	protein-coding gene	gene with protein product		114208		HOKPP, MHS5, CACNL1A3		7916735, 16382099	Standard	NM_000069		Approved	Cav1.1, hypoPP	uc001gvv.3	Q13698	OTTHUMG00000035784	ENST00000362061.3:c.1405C>T	1.37:g.201047221G>A	ENSP00000355192:p.Arg469Trp					CACNA1S_ENST00000367338.3_Missense_Mutation_p.R469W	p.R469W	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN			11	1631	-			469					A4IF51|B1ALM2|Q12896|Q13934	Missense_Mutation	SNP	ENST00000362061.3	37	c.1405C>T	CCDS1407.1	.	.	.	.	.	.	.	.	.	.	G	12.60	1.987871	0.35036	.	.	ENSG00000081248	ENST00000362061;ENST00000367338	D;D	0.98419	-4.92;-4.92	4.63	3.64	0.41730	Ion transport (1);	0.672691	0.15229	N	0.273539	D	0.97340	0.9130	N	0.21282	0.65	0.36168	D	0.848559	D	0.76494	0.999	D	0.70935	0.971	D	0.96978	0.9713	10	0.39692	T	0.17	.	11.8301	0.52290	0.0:0.0:0.6942:0.3058	.	469	Q13698	CAC1S_HUMAN	W	469	ENSP00000355192:R469W;ENSP00000356307:R469W	ENSP00000355192:R469W	R	-	1	2	CACNA1S	199313844	0.854000	0.29725	0.997000	0.53966	0.330000	0.28571	1.214000	0.32419	2.262000	0.75019	0.643000	0.83706	CGG		0.587	CACNA1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087049.1	NM_000069		30	43	0	0	0	1	0	30	43					A	201047221	G	A	201047221	3	1	146	1	0	0	0	0	1	0	0	0	2547	1115	39	2	4352	2	CACNA1S	1	201047221	Missense_Mutation	SNP	G	TCGA-FC-A6HD-01A-11D-A31L-08	3918607	201047221	48203400	5	7236											
OBSCN	84033	broad.mit.edu	37	chr1	228558822	228558822	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tccctcggcgtagcccggcaCctctgcagggacactggtgg	5	7	14	15	3	1	0	0	0	1	0	3	1	2	1	3	5	2	3	3	5	1	1			TCGA-FC-A6HD-01A-11D-A31L-08	TCGA-FC-A6HD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b784d464-ed48-4b7e-ae31-b3fe20d63594	955bd0b6-b0f9-4092-9509-d09a7c632fd1	g.chr1:228558822C>A	ENST00000422127.1	+	94	20387	c.20343C>A	c.(20341-20343)caC>caA	p.H6781Q	OBSCN_ENST00000366707.4_Missense_Mutation_p.H4415Q|OBSCN_ENST00000570156.2_Missense_Mutation_p.H7738Q	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	6781					apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				TAGCCCGGCACCTCTGCAGGG	0.657																																						ENST00000570156.2																			0				NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223						c.(23212-23214)caC>caA		obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF							29	34	32					1																	228558822		2083	4212	6295	SO:0001583	missense	84033				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	g.chr1:228558822C>A	AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"Rho guanine nucleotide exchange factors", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.20343C>A	1.37:g.228558822C>A	ENSP00000409493:p.His6781Gln					OBSCN_ENST00000422127.1_Missense_Mutation_p.H6781Q|OBSCN_ENST00000366707.4_Missense_Mutation_p.H4415Q	p.H7738Q	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN			105	23288	+		Prostate(94;0.0405)	6781			Protein kinase 2.		Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Missense_Mutation	SNP	ENST00000422127.1	37	c.23214C>A	CCDS58065.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.44|11.44	1.640587|1.640587	0.29157|0.29157	.|.	.|.	ENSG00000154358|ENSG00000154358	ENST00000422127;ENST00000366707|ENST00000441106	T;T|.	0.63744|.	-0.06;0.01|.	4.79|4.79	3.88|3.88	0.44766|0.44766	Protein kinase-like domain (1);|.	.|.	.|.	.|.	.|.	T|T	0.62660|0.62660	0.2446|0.2446	L|L	0.55481|0.55481	1.735|1.735	0.80722|0.80722	D|D	1|1	B|.	0.26195|.	0.144|.	B|.	0.19148|.	0.024|.	T|T	0.61058|0.61058	-0.7139|-0.7139	9|5	0.26408|.	T|.	0.33|.	.|.	13.1463|13.1463	0.59463|0.59463	0.0:0.9225:0.0:0.0775|0.0:0.9225:0.0:0.0775	.|.	6781|.	Q5VST9|.	OBSCN_HUMAN|.	Q|T	6781;4415|1398	ENSP00000409493:H6781Q;ENSP00000355668:H4415Q|.	ENSP00000355668:H4415Q|.	H|P	+|+	3|1	2|0	OBSCN|OBSCN	226625445|226625445	0.625000|0.625000	0.27111|0.27111	0.999000|0.999000	0.59377|0.59377	0.090000|0.090000	0.18270|0.18270	-0.079000|-0.079000	0.11357|0.11357	1.244000|1.244000	0.43870|0.43870	0.555000|0.555000	0.69702|0.69702	CAC|CCT		0.657	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843		15	30	1	0	1.3612e-06	1	1.41257e-06	15	30					A	228558822	C	A	228558822	3	1	146	1	0	0	0	0	1	0	0	0	10812	506	18	5	21923	5	OBSCN	1	228558822	Missense_Mutation	SNP	C	TCGA-FC-A6HD-01A-11D-A31L-08	27511601	228558822	20691799	6	7237											
FH	2271	broad.mit.edu	37	chr1	241669308	241669308	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cacgtgatcactaacctgtaAgtgcagccacttttgcagca	11	10	8	12	1	1	1	1	1	0	0	1	1	1	1	2	0	5	4	2	0	2	4			TCGA-FC-A6HD-01A-11D-A31L-08	TCGA-FC-A6HD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b784d464-ed48-4b7e-ae31-b3fe20d63594	955bd0b6-b0f9-4092-9509-d09a7c632fd1	g.chr1:241669308A>T	ENST00000366560.3	-	6	937	c.899T>A	c.(898-900)cTt>cAt	p.L300H		NM_000143.3	NP_000134.2	P07954	FUMH_HUMAN	fumarate hydratase	300					cellular metabolic process (GO:0044237)|fumarate metabolic process (GO:0006106)|homeostasis of number of cells within a tissue (GO:0048873)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|tricarboxylic acid cycle enzyme complex (GO:0045239)	fumarate hydratase activity (GO:0004333)			biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|skin(2)	26	Ovarian(103;0.103)	all_cancers(173;2.37e-314)|all_epithelial(177;5.17e-286)|Breast(1374;1.06e-10)|Acute lymphoblastic leukemia(190;4.93e-10)|all_neural(198;0.00118)	OV - Ovarian serous cystadenocarcinoma(106;0.0214)	Colorectal(1306;2.33e-53)|COAD - Colon adenocarcinoma(196;1.05e-44)|KIRC - Kidney renal clear cell carcinoma(1967;0.000109)		CTAACCTGTAAGTGCAGCCAC	0.398			"Mis, N, F"			"lieomyomatosis, renal"			Hereditary Leiomyomatosis and Renal Cell Cancer																												Melanoma(148;1573 2486 7381 46575)	ENST00000366560.3			yes	Rec		hereditary leiomyomatosis and renal cell cancer	1	1q42.1	2271	"Mis, N, F"	fumarate hydratase			"E, M"		"lieomyomatosis, renal"			0				biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|skin(2)	26						c.(898-900)cTt>cAt		fumarate hydratase							121	113	116					1																	241669308		2203	4300	6503	SO:0001583	missense	2271	Hereditary Leiomyomatosis and Renal Cell Cancer	Familial Cancer Database	HLRCC, Reed syndrome, Hereditary Multiple Leiomyomata of Skin and Uterus	fumarate metabolic process|tricarboxylic acid cycle	cell junction|mitochondrial matrix|tricarboxylic acid cycle enzyme complex	fumarate hydratase activity	g.chr1:241669308A>T	BC003108	CCDS1617.1	1q42.1	2014-09-17			ENSG00000091483	ENSG00000091483	4.2.1.2		3700	protein-coding gene	gene with protein product		136850					Standard	NM_000143		Approved	fumarase	uc001hyx.3	P07954	OTTHUMG00000039597	ENST00000366560.3:c.899T>A	1.37:g.241669308A>T	ENSP00000355518:p.Leu300His						p.L300H	NM_000143.3	NP_000134.2	P07954	FUMH_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0214)	Colorectal(1306;2.33e-53)|COAD - Colon adenocarcinoma(196;1.05e-44)|KIRC - Kidney renal clear cell carcinoma(1967;0.000109)	6	937	-	Ovarian(103;0.103)	all_cancers(173;2.37e-314)|all_epithelial(177;5.17e-286)|Breast(1374;1.06e-10)|Acute lymphoblastic leukemia(190;4.93e-10)|all_neural(198;0.00118)	300					B1ANK7	Missense_Mutation	SNP	ENST00000366560.3	37	c.899T>A	CCDS1617.1	.	.	.	.	.	.	.	.	.	.	A	15.28	2.787037	0.49997	.	.	ENSG00000091483	ENST00000366560	D	0.99488	-6.0	5.76	5.76	0.90799	Lyase 1, N-terminal (1);L-Aspartase-like (1);	0.127263	0.56097	D	0.000034	D	0.99542	0.9836	M	0.92268	3.29	0.80722	D	1	D	0.54397	0.966	P	0.61070	0.883	D	0.98113	1.0421	10	0.66056	D	0.02	-10.3015	14.0363	0.64646	1.0:0.0:0.0:0.0	.	300	P07954	FUMH_HUMAN	H	300	ENSP00000355518:L300H	ENSP00000355518:L300H	L	-	2	0	FH	239735931	1.000000	0.71417	0.998000	0.56505	0.653000	0.38743	8.673000	0.91186	2.191000	0.70037	0.533000	0.62120	CTT		0.398	FH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095490.1	NM_000143		35	47	0	0	0	1	0	35	47					T	241669308	A	T	241669308	3	4	146	1	0	0	0	0	1	0	0	0	5875	72	3	5	653	5	FH	1	241669308	Missense_Mutation	SNP	A	TCGA-FC-A6HD-01A-11D-A31L-08	13110486	241669308	7581313	7	7238											
OTX1	5013	broad.mit.edu	37	chr2	63283375	63283375	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cgccgctgctgcttcctccgCctggaaactcaacttcaact	7	10	7	17	3	2	0	2	0	0	0	4	1	4	1	4	1	5	3	4	1	3	2			TCGA-FC-A6HD-01A-11D-A31L-08	TCGA-FC-A6HD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b784d464-ed48-4b7e-ae31-b3fe20d63594	955bd0b6-b0f9-4092-9509-d09a7c632fd1	g.chr2:63283375C>G	ENST00000282549.2	+	5	1265	c.989C>G	c.(988-990)gCc>gGc	p.A330G	OTX1_ENST00000366671.3_Missense_Mutation_p.A330G	NM_014562.3	NP_055377.1	P32242	OTX1_HUMAN	orthodenticle homeobox 1	330					anterior/posterior pattern specification (GO:0009952)|diencephalon morphogenesis (GO:0048852)|inner ear morphogenesis (GO:0042472)|metencephalon development (GO:0022037)|midbrain development (GO:0030901)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|pancreas(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	20	Lung NSC(7;0.121)|all_lung(7;0.211)					GCTTCCTCCGCCTGGAAACTC	0.577																																						ENST00000366671.3																			0				endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|pancreas(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	20						c.(988-990)gCc>gGc		orthodenticle homeobox 1							63	59	60					2																	63283375		2203	4300	6503	SO:0001583	missense	5013					nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:63283375C>G		CCDS1873.1	2p15	2011-06-20	2007-02-15		ENSG00000115507	ENSG00000115507		"Homeoboxes / PRD class"	8521	protein-coding gene	gene with protein product		600036	"orthodenticle (Drosophila) homolog 1", "orthodenticle homolog 1 (Drosophila)"			7959790	Standard	NM_001199770		Approved		uc002scd.3	P32242	OTTHUMG00000129454	ENST00000282549.2:c.989C>G	2.37:g.63283375C>G	ENSP00000282549:p.Ala330Gly					OTX1_ENST00000282549.2_Missense_Mutation_p.A330G	p.A330G	NM_001199770.1	NP_001186699.1	P32242	OTX1_HUMAN			5	1265	+	Lung NSC(7;0.121)|all_lung(7;0.211)		330					A6NHA2|B3KTJ4|Q53TG6	Missense_Mutation	SNP	ENST00000282549.2	37	c.989C>G	CCDS1873.1	.	.	.	.	.	.	.	.	.	.	C	18.92	3.726346	0.69074	.	.	ENSG00000115507	ENST00000366671;ENST00000282549	D;D	0.90788	-2.73;-2.73	3.76	3.76	0.43208	.	0.213429	0.39985	N	0.001217	D	0.85617	0.5738	L	0.32530	0.975	0.46131	D	0.99888	B	0.25667	0.131	B	0.24541	0.054	D	0.85088	0.0950	10	0.66056	D	0.02	.	14.8544	0.70326	0.0:1.0:0.0:0.0	.	330	P32242	OTX1_HUMAN	G	330	ENSP00000355631:A330G;ENSP00000282549:A330G	ENSP00000282549:A330G	A	+	2	0	OTX1	63136879	1.000000	0.71417	0.982000	0.44146	0.859000	0.49053	6.927000	0.75840	2.069000	0.61940	0.561000	0.74099	GCC		0.577	OTX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251617.1			27	55	0	0	0	1	0	27	55					G	63283375	C	G	63283375	3	3	146	1	0	0	0	0	1	0	0	0	11320	739	26	5	999	5	OTX1	2	63283375	Missense_Mutation	SNP	C	TCGA-FC-A6HD-01A-11D-A31L-08		63283375	179915998	8	7239											
UGT1A8	54658	broad.mit.edu	37	chr2	234526724	234526724	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	taacttatttttttcgcattGcaggagtttgtttaatgacc	9	19	7	6	1	0	1	0	1	0	0	1	2	0	2	1	1	2	4	1	1	3	9			TCGA-FC-A6HD-01A-11D-A31L-08	TCGA-FC-A6HD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b784d464-ed48-4b7e-ae31-b3fe20d63594	955bd0b6-b0f9-4092-9509-d09a7c632fd1	g.chr2:234526724G>T	ENST00000373450.4	+	1	434	c.371G>T	c.(370-372)tGc>tTc	p.C124F		NM_019076.4	NP_061949.3	P22309	UD11_HUMAN	UDP glucuronosyltransferase 1 family, polypeptide A1	127					acute-phase response (GO:0006953)|bilirubin conjugation (GO:0006789)|biphenyl catabolic process (GO:0070980)|cellular glucuronidation (GO:0052695)|cellular response to ethanol (GO:0071361)|cellular response to glucocorticoid stimulus (GO:0071385)|digestion (GO:0007586)|drug metabolic process (GO:0017144)|estrogen metabolic process (GO:0008210)|flavone metabolic process (GO:0051552)|flavonoid glucuronidation (GO:0052696)|heme catabolic process (GO:0042167)|heterocycle metabolic process (GO:0046483)|liver development (GO:0001889)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cellular glucuronidation (GO:2001030)|negative regulation of steroid metabolic process (GO:0045939)|organ regeneration (GO:0031100)|porphyrin-containing compound metabolic process (GO:0006778)|response to drug (GO:0042493)|response to lipopolysaccharide (GO:0032496)|response to nutrient (GO:0007584)|response to starvation (GO:0042594)|retinoic acid metabolic process (GO:0042573)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|xenobiotic glucuronidation (GO:0052697)|xenobiotic metabolic process (GO:0006805)	cytochrome complex (GO:0070069)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)	enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|glucuronosyltransferase activity (GO:0015020)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|retinoic acid binding (GO:0001972)|steroid binding (GO:0005496)			breast(1)|central_nervous_system(2)|endometrium(7)|large_intestine(5)|lung(9)|skin(4)|urinary_tract(2)	30		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;4.1e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000435)|Lung(119;0.00211)|LUSC - Lung squamous cell carcinoma(224;0.0054)	Abacavir(DB01048)|Acetaminophen(DB00316)|Adenine(DB00173)|Atorvastatin(DB01076)|Axitinib(DB06626)|Diclofenac(DB00586)|Dolutegravir(DB08930)|Eltrombopag(DB06210)|Erlotinib(DB00530)|Estradiol(DB00783)|Etoposide(DB00773)|Ezetimibe(DB00973)|Ezogabine(DB04953)|Flunitrazepam(DB01544)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Ibuprofen(DB01050)|Indacaterol(DB05039)|Indomethacin(DB00328)|Irinotecan(DB00762)|Losartan(DB00678)|Lovastatin(DB00227)|Morphine(DB00295)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Naltrexone(DB00704)|Naproxen(DB00788)|Nilotinib(DB04868)|Pazopanib(DB06589)|Propofol(DB00818)|Raltegravir(DB06817)|Regorafenib(DB08896)|Rifampicin(DB01045)|Simvastatin(DB00641)|Sorafenib(DB00398)|Suprofen(DB00870)|Testosterone Propionate(DB01420)	TTTTCGCATTGCAGGAGTTTG	0.353																																						ENST00000373450.4																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(3)	30						c.(370-372)tGc>tTc									119	127	124					2																	234526724		2203	4300	6503	SO:0001583	missense	0							g.chr2:234526724G>T	M57899	CCDS2510.1	2q37.1	2014-09-17	2005-07-20		ENSG00000242366	ENSG00000242366	2.4.1.17	"UDP glucuronosyltransferases"	12530	other	complex locus constituent		191740	"UDP glycosyltransferase 1 family, polypeptide A1"	UGT1, GNT1		9295054, 9535849	Standard	NM_000463		Approved	UGT1A		P22309	OTTHUMG00000059117	ENST00000373450.4:c.371G>T	2.37:g.234526724G>T	ENSP00000362549:p.Cys124Phe						p.C124F	NM_019076.4	NP_061949.3				Epithelial(121;2.56e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000482)|Lung(119;0.00404)|LUSC - Lung squamous cell carcinoma(224;0.008)	1	434	+		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0334)|Lung NSC(271;0.0461)|Lung SC(224;0.128)						A6NJC3|B8K286	Missense_Mutation	SNP	ENST00000373450.4	37	c.371G>T	CCDS33402.1	.	.	.	.	.	.	.	.	.	.	G	11.72	1.721590	0.30503	.	.	ENSG00000242366	ENST00000373450	T	0.79247	-1.25	3.78	3.78	0.43462	.	.	.	.	.	D	0.89227	0.6655	M	0.90019	3.08	0.42975	D	0.994448	D;D	0.61697	0.99;0.99	D;D	0.66602	0.945;0.945	D	0.92302	0.5850	9	0.87932	D	0	.	16.2097	0.82148	0.0:0.0:1.0:0.0	.	124;124	Q5DSZ6;Q9HAW9	.;UD18_HUMAN	F	124	ENSP00000362549:C124F	ENSP00000362549:C124F	C	+	2	0	UGT1A8	234191463	1.000000	0.71417	0.131000	0.22000	0.252000	0.25951	6.854000	0.75440	2.122000	0.65172	0.505000	0.49811	TGC		0.353	UGT1A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000130994.1			5	146	1	0	1.024e-07	1	1.08308e-07	5	146					T	234526724	G	T	234526724	3	4	146	1	0	0	0	0	1	0	0	0	16948	1319	46	5	373	5	UGT1A8	2	234526724	Missense_Mutation	SNP	G	TCGA-FC-A6HD-01A-11D-A31L-08	171243349	234526724	8672649	9	7240											
ATG7	10533	broad.mit.edu	37	chr3	11402103	11402103	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acacatttgttgtcatgagaCatggtctgaagaaaccaaag	15	10	9	7	0	2	3	1	2	1	2	2	4	2	3	1	1	1	1	1	1	3	2			TCGA-FC-A6HD-01A-11D-A31L-08	TCGA-FC-A6HD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b784d464-ed48-4b7e-ae31-b3fe20d63594	955bd0b6-b0f9-4092-9509-d09a7c632fd1	g.chr3:11402103C>G	ENST00000354449.3	+	14	1553	c.1528C>G	c.(1528-1530)Cat>Gat	p.H510D	ATG7_ENST00000446450.2_Missense_Mutation_p.H471D|ATG7_ENST00000354956.5_Missense_Mutation_p.H510D	NM_006395.2	NP_006386.1	O95352	ATG7_HUMAN	autophagy related 7	510					adult walking behavior (GO:0007628)|C-terminal protein lipidation (GO:0006501)|cardiac muscle cell development (GO:0055013)|cellular amino acid metabolic process (GO:0006520)|cellular protein modification process (GO:0006464)|cellular response to hyperoxia (GO:0071455)|cellular response to nitrogen starvation (GO:0006995)|cellular response to starvation (GO:0009267)|central nervous system neuron axonogenesis (GO:0021955)|cerebellar Purkinje cell layer development (GO:0021680)|cerebral cortex development (GO:0021987)|late nucleophagy (GO:0044805)|liver development (GO:0001889)|membrane fusion (GO:0061025)|mitochondrion degradation (GO:0000422)|mitochondrion organization (GO:0007005)|negative regulation of apoptotic process (GO:0043066)|negative stranded viral RNA replication (GO:0039689)|neurological system process (GO:0050877)|piecemeal microautophagy of nucleus (GO:0034727)|positive regulation of apoptotic process (GO:0043065)|positive regulation of autophagy (GO:0010508)|positive regulation of macroautophagy (GO:0016239)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein modification process (GO:0031401)|post-embryonic development (GO:0009791)|protein catabolic process (GO:0030163)|protein lipidation (GO:0006497)|protein modification by small protein conjugation (GO:0032446)|protein transport (GO:0015031)|pyramidal neuron development (GO:0021860)|regulation of protein ubiquitination (GO:0031396)	axoneme (GO:0005930)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|pre-autophagosomal structure (GO:0000407)	Atg12 activating enzyme activity (GO:0019778)|Atg8 activating enzyme (GO:0019779)|protein homodimerization activity (GO:0042803)|transcription factor binding (GO:0008134)|ubiquitin activating enzyme activity (GO:0004839)			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(14)|prostate(1)|skin(2)|urinary_tract(1)	34						TGTCATGAGACATGGTCTGAA	0.458																																						ENST00000354449.3																			0				central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(14)|prostate(1)|skin(2)|urinary_tract(1)	34						c.(1528-1530)Cat>Gat		autophagy related 7							170	153	159					3																	11402103		2203	4300	6503	SO:0001583	missense	10533				autophagy|cellular membrane fusion|positive regulation of protein modification process|protein lipidation|protein transport	cytoplasm	APG12 activating enzyme activity|protein homodimerization activity|ubiquitin activating enzyme activity	g.chr3:11402103C>G	AF094516	CCDS2605.1, CCDS46752.1, CCDS46753.1	3p25.3-p25.2	2014-02-18	2012-06-06	2005-09-11	ENSG00000197548	ENSG00000197548		"Ubiquitin-like modifier activating enzymes"	16935	protein-coding gene	gene with protein product	"ubiquitin-activating enzyme E1-like protein"	608760	"APG7 autophagy 7-like (S. cerevisiae)", "ATG7 autophagy related 7 homolog (S. cerevisiae)"	APG7L		10233149	Standard	NM_006395		Approved	GSA7, DKFZp434N0735	uc003bwc.3	O95352	OTTHUMG00000129740	ENST00000354449.3:c.1528C>G	3.37:g.11402103C>G	ENSP00000346437:p.His510Asp					ATG7_ENST00000446450.2_Missense_Mutation_p.H471D|ATG7_ENST00000354956.5_Missense_Mutation_p.H510D	p.H510D	NM_006395.2	NP_006386.1	O95352	ATG7_HUMAN			14	1553	+			510					B4E170|E9PB95|Q7L8L0|Q9BWP2|Q9UFH4	Missense_Mutation	SNP	ENST00000354449.3	37	c.1528C>G	CCDS2605.1	.	.	.	.	.	.	.	.	.	.	C	25.9	4.683116	0.88542	.	.	ENSG00000197548	ENST00000446450;ENST00000354956;ENST00000354449	T;T;T	0.13307	2.6;2.6;2.6	5.74	5.74	0.90152	Molybdenum cofactor biosynthesis, MoeB (1);NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	T	0.53449	0.1797	H	0.96301	3.8	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.997;1.0	T	0.68277	-0.5451	10	0.87932	D	0	-9.2916	18.0951	0.89487	0.0:1.0:0.0:0.0	.	471;510;510	E9PB95;O95352-2;O95352	.;.;ATG7_HUMAN	D	471;510;510	ENSP00000412580:H471D;ENSP00000347042:H510D;ENSP00000346437:H510D	ENSP00000346437:H510D	H	+	1	0	ATG7	11377103	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.367000	0.79558	2.709000	0.92574	0.655000	0.94253	CAT		0.458	ATG7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251951.3	NM_006395		87	99	0	0	0	1	0	87	99					G	11402103	C	G	11402103	3	3	146	1	0	0	0	0	1	0	0	0	1101	478	17	5	1578	5	ATG7	3	11402103	Missense_Mutation	SNP	C	TCGA-FC-A6HD-01A-11D-A31L-08		11402103	186620327	10	7241											
TMEM40	55287	broad.mit.edu	37	chr3	12783981	12783981	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agttgaagctcatccttcaaAacgtcaggctccccatgccc	10	9	7	15	1	3	1	3	1	0	0	5	1	5	1	4	1	3	3	4	1	3	2			TCGA-FC-A6HD-01A-11D-A31L-08	TCGA-FC-A6HD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b784d464-ed48-4b7e-ae31-b3fe20d63594	955bd0b6-b0f9-4092-9509-d09a7c632fd1	g.chr3:12783981A>G	ENST00000314124.7	-	5	683	c.327T>C	c.(325-327)gtT>gtC	p.V109V	TMEM40_ENST00000435575.1_Silent_p.V33V|TMEM40_ENST00000431022.2_Silent_p.V125V|TMEM40_ENST00000264728.8_Silent_p.V109V|TMEM40_ENST00000476331.1_5'Flank|TMEM40_ENST00000435218.2_Silent_p.V79V	NM_001284406.1|NM_018306.2	NP_001271335.1|NP_060776.2	Q8WWA1	TMM40_HUMAN	transmembrane protein 40	109						integral component of membrane (GO:0016021)				breast(1)|large_intestine(3)|lung(5)|urinary_tract(1)	10						CATCCTTCAAAACGTCAGGCT	0.512																																						ENST00000314124.7																			0				breast(1)|large_intestine(3)|lung(5)|urinary_tract(1)	10						c.(325-327)gtT>gtC		transmembrane protein 40							128	124	125					3																	12783981		2203	4300	6503	SO:0001819	synonymous_variant	55287					integral to membrane		g.chr3:12783981A>G	BC020658	CCDS2613.1, CCDS68347.1, CCDS68348.1	3p25.2	2005-01-10			ENSG00000088726	ENSG00000088726			25620	protein-coding gene	gene with protein product						12477932	Standard	NM_018306		Approved	FLJ11036	uc003bxg.1	Q8WWA1	OTTHUMG00000129801	ENST00000314124.7:c.327T>C	3.37:g.12783981A>G						TMEM40_ENST00000435575.1_Silent_p.V33V|TMEM40_ENST00000435218.2_Silent_p.V79V|TMEM40_ENST00000264728.8_Silent_p.V109V|TMEM40_ENST00000431022.2_Silent_p.V125V	p.V109V	NM_018306.2	NP_060776.2	Q8WWA1	TMM40_HUMAN			5	683	-			109					C9JID5|Q8NAL4|Q9NUZ4	Silent	SNP	ENST00000314124.7	37	c.327T>C	CCDS2613.1																																																																																				0.512	TMEM40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252029.2	NM_018306		53	80	0	0	0	1	0	53	80					G	12783981	A	G	12783981	2	3	146	1	0	0	0	0	0	0	0	1	16160	1	1	4		4	TMEM40	3	12783981	Silent	SNP	A	TCGA-FC-A6HD-01A-11D-A31L-08	1381878	12783981	185238449	11	7242											
PIGX	54965	broad.mit.edu	37	chr3	196460770	196460770	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aaatatggccatttttccctAtaagttttatgtagttaaat	13	18	5	5	0	0	0	0	0	0	0	1	0	1	0	2	1	0	3	2	1	8	9	rs144273559	byFrequency	TCGA-FC-A6HD-01A-11D-A31L-08	TCGA-FC-A6HD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b784d464-ed48-4b7e-ae31-b3fe20d63594	955bd0b6-b0f9-4092-9509-d09a7c632fd1	g.chr3:196460770A>G	ENST00000314118.4	+	6	933	c.651A>G	c.(649-651)ctA>ctG	p.L217L	PIGX_ENST00000541663.1_Silent_p.L168L	NM_017861.3	NP_060331.3	Q8TBF5	PIGX_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class X	258					C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(5)|lung(4)|stomach(1)	11	all_cancers(143;1.41e-08)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;1.07e-23)|all cancers(36;1.08e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.5e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00322)		ATTTTTCCCTATAAGTTTTAT	0.333																																						ENST00000314118.4																			0				endometrium(1)|large_intestine(5)|lung(4)|stomach(1)	11						c.(649-651)ctA>ctG		phosphatidylinositol glycan anchor biosynthesis, class X							148	136	140					3																	196460770		2202	4300	6502	SO:0001819	synonymous_variant	54965				C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane		g.chr3:196460770A>G	AK000529	CCDS3320.1, CCDS3320.2, CCDS54701.1	3q29	2013-02-26	2006-06-28		ENSG00000163964	ENSG00000163964		"Phosphatidylinositol glycan anchor biosynthesis"	26046	protein-coding gene	gene with protein product		610276	"phosphatidylinositol glycan, class X"			15635094	Standard	NM_017861		Approved	FLJ20522	uc010iaj.3	Q8TBF5	OTTHUMG00000155535	ENST00000314118.4:c.651A>G	3.37:g.196460770A>G						PIGX_ENST00000541663.1_Silent_p.L168L	p.L217L	NM_017861.3	NP_060331.3	Q8TBF5	PIGX_HUMAN	Epithelial(36;1.07e-23)|all cancers(36;1.08e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.5e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00322)	6	933	+	all_cancers(143;1.41e-08)|Ovarian(172;0.0634)|Breast(254;0.135)		258					Q9NWZ2	Silent	SNP	ENST00000314118.4	37	c.651A>G																																																																																					0.333	PIGX-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_017861		21	42	0	0	0	1	0	21	42					G	196460770	A	G	196460770	2	3	146	1	0	0	0	0	0	0	0	1	11903	436	16	4		4	PIGX	3	196460770	Silent	SNP	A	TCGA-FC-A6HD-01A-11D-A31L-08	183676789	196460770	1561660	12	7243											
C4orf19	55286	broad.mit.edu	37	chr4	37591965	37591965	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggaggggaacaccatgcctgCggtgtcaacggcatcggccc	8	5	15	13	3	1	0	1	0	0	0	2	2	1	2	3	6	4	1	3	6	2	0			TCGA-FC-A6HD-01A-11D-A31L-08	TCGA-FC-A6HD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b784d464-ed48-4b7e-ae31-b3fe20d63594	955bd0b6-b0f9-4092-9509-d09a7c632fd1	g.chr4:37591965C>T	ENST00000284437.6	+	3	466	c.288C>T	c.(286-288)tgC>tgT	p.C96C	C4orf19_ENST00000381980.4_Silent_p.C96C|C4orf19_ENST00000508175.1_Intron|RP11-36B15.1_ENST00000503034.1_RNA	NM_018302.2	NP_060772.2	Q8IY42	CD019_HUMAN	chromosome 4 open reading frame 19	96										large_intestine(1)|lung(3)|skin(3)|stomach(1)|urinary_tract(1)	9						ACCATGCCTGCGGTGTCAACG	0.647																																						ENST00000284437.6																			0				large_intestine(1)|lung(3)|skin(3)|stomach(1)|urinary_tract(1)	9						c.(286-288)tgC>tgT		chromosome 4 open reading frame 19							35	37	36					4																	37591965		2203	4300	6503	SO:0001819	synonymous_variant	55286							g.chr4:37591965C>T	BC037906	CCDS3442.1	4p14	2008-02-05			ENSG00000154274	ENSG00000154274			25618	protein-coding gene	gene with protein product						12477932	Standard	NM_001104629		Approved	FLJ11017	uc003gsw.4	Q8IY42	OTTHUMG00000128580	ENST00000284437.6:c.288C>T	4.37:g.37591965C>T						C4orf19_ENST00000508175.1_Intron|C4orf19_ENST00000381980.4_Silent_p.C96C	p.C96C	NM_018302.2	NP_060772.2	Q8IY42	CD019_HUMAN			3	466	+			96					Q9NV03	Silent	SNP	ENST00000284437.6	37	c.288C>T	CCDS3442.1																																																																																				0.647	C4orf19-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250432.1	NM_018302		34	46	0	0	0	1	0	34	46					T	37591965	C	T	37591965	2	4	146	1	0	0	0	0	0	0	0	1	2253	776	27	1		1	C4orf19	4	37591965	Silent	SNP	C	TCGA-FC-A6HD-01A-11D-A31L-08		37591965	153562311	13	7244											
MAD2L1	4085	broad.mit.edu	37	chr4	120982029	120982029	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaagttgtataatacttacAagaaacttccaacagtggca	17	10	7	7	0	0	2	0	0	0	2	1	2	1	2	1	1	4	3	1	1	8	6			TCGA-FC-A6HD-01A-11D-A31L-08	TCGA-FC-A6HD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b784d464-ed48-4b7e-ae31-b3fe20d63594	955bd0b6-b0f9-4092-9509-d09a7c632fd1	g.chr4:120982029A>G	ENST00000296509.6	-	4	784	c.445T>C	c.(445-447)Tgt>Cgt	p.C149R		NM_002358.3	NP_002349.1	Q13257	MD2L1_HUMAN	MAD2 mitotic arrest deficient-like 1 (yeast)	149	HORMA. {ECO:0000255|PROSITE- ProRule:PRU00109}.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic sister chromatid segregation (GO:0000070)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of apoptotic process (GO:0043066)|negative regulation of mitotic anaphase-promoting complex activity (GO:0060564)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090267)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	cytosol (GO:0005829)|kinetochore (GO:0000776)|mitotic spindle (GO:0072686)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|spindle pole (GO:0000922)	identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)			breast(2)|kidney(2)|large_intestine(2)|lung(3)	9						TAATACTTACAAGAAACTTCC	0.368																																						ENST00000296509.5																			0				breast(2)|kidney(2)|large_intestine(2)|lung(3)	9						c.e4+1		MAD2 mitotic arrest deficient-like 1 (yeast)							43	43	43					4																	120982029		2203	4300	6503	SO:0001630	splice_region_variant	4085				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|negative regulation of apoptosis|negative regulation of mitotic anaphase-promoting complex activity|positive regulation of mitotic cell cycle spindle assembly checkpoint	condensed chromosome kinetochore|cytosol|nucleus|perinuclear region of cytoplasm	protein homodimerization activity	g.chr4:120982029A>G	U65410	CCDS3715.1	4q27	2013-01-17	2001-11-28		ENSG00000164109	ENSG00000164109			6763	protein-coding gene	gene with protein product		601467	"MAD2 (mitotic arrest deficient, yeast, homolog)-like 1"			8824189, 9345911	Standard	NM_002358		Approved	MAD2, HSMAD2	uc003idl.2	Q13257	OTTHUMG00000132967	ENST00000296509.6:c.445+1T>C	4.37:g.120982029A>G							p.C149_splice	NM_002358.3	NP_002349.1	Q13257	MD2L1_HUMAN			4	784	-			149			HORMA.		Q53F56|Q548X9|Q6IRW7|Q8IZX3	Splice_Site	SNP	ENST00000296509.6	37	c.445_splice	CCDS3715.1	.	.	.	.	.	.	.	.	.	.	A	18.35	3.605236	0.66445	.	.	ENSG00000164109	ENST00000296509	.	.	.	5.03	5.03	0.67393	DNA-binding HORMA (4);	0.000000	0.85682	D	0.000000	T	0.80889	0.4710	M	0.86651	2.83	0.80722	D	1	D	0.71674	0.998	D	0.71656	0.974	D	0.84164	0.0430	8	.	.	.	-12.6294	15.0672	0.72005	1.0:0.0:0.0:0.0	.	149	Q13257	MD2L1_HUMAN	R	149	.	.	C	-	1	0	MAD2L1	121201477	1.000000	0.71417	0.955000	0.39395	0.545000	0.35147	8.587000	0.90810	2.025000	0.59659	0.459000	0.35465	TGT		0.368	MAD2L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256525.2		Missense_Mutation	7	10	0	0	0	1	0	7	10					G	120982029	A	G	120982029	5	3	146	1	0	0	0	0	0	0	1	0	9148	144	5	4	180	4	MAD2L1	4	120982029	Splice_Site	SNP	A	TCGA-FC-A6HD-01A-11D-A31L-08	83390064	120982029	70172247	14	7245											
LIFR	3977	broad.mit.edu	37	chr5	38493716	38493716	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aattcatcttaccagattctAttacagtttcagtgctgttt	10	18	5	8	0	4	1	2	0	2	1	4	1	4	1	1	0	3	3	1	0	4	7			TCGA-FC-A6HD-01A-11D-A31L-08	TCGA-FC-A6HD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b784d464-ed48-4b7e-ae31-b3fe20d63594	955bd0b6-b0f9-4092-9509-d09a7c632fd1	g.chr5:38493716A>C	ENST00000263409.4	-	14	2219	c.2057T>G	c.(2056-2058)aTa>aGa	p.I686R	LIFR_ENST00000503088.1_5'UTR|LIFR_ENST00000453190.2_Missense_Mutation_p.I686R	NM_002310.5	NP_002301.1	P42702	LIFR_HUMAN	leukemia inhibitory factor receptor alpha	686	Fibronectin type-III 5. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell surface receptor signaling pathway (GO:0007166)|ciliary neurotrophic factor-mediated signaling pathway (GO:0070120)|cytokine-mediated signaling pathway (GO:0019221)|leukemia inhibitory factor signaling pathway (GO:0048861)|oncostatin-M-mediated signaling pathway (GO:0038165)|positive regulation of cell proliferation (GO:0008284)|response to cytokine (GO:0034097)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	ciliary neurotrophic factor receptor binding (GO:0005127)|growth factor binding (GO:0019838)|leukemia inhibitory factor receptor activity (GO:0004923)			NS(2)|breast(4)|endometrium(6)|kidney(2)|large_intestine(30)|liver(2)|lung(21)|ovary(3)|skin(5)|stomach(1)|urinary_tract(2)	78	all_lung(31;0.00021)					ACCAGATTCTATTACAGTTTC	0.398			T	PLAG1	salivary adenoma																																Melanoma(13;4 730 6426 9861 34751)	ENST00000263409.4				Dom	yes		5	5p13-p12	3977	T	leukemia inhibitory factor receptor			E	PLAG1		salivary adenoma		0				NS(2)|breast(4)|endometrium(6)|kidney(2)|large_intestine(30)|liver(2)|lung(21)|ovary(3)|skin(5)|stomach(1)|urinary_tract(2)	78						c.(2056-2058)aTa>aGa		leukemia inhibitory factor receptor alpha							123	116	118					5																	38493716		2203	4300	6503	SO:0001583	missense	3977				positive regulation of cell proliferation	extracellular region|integral to plasma membrane	ciliary neurotrophic factor receptor binding|growth factor binding|leukemia inhibitory factor receptor activity	g.chr5:38493716A>C	X61615	CCDS3927.1	5p13-p12	2013-02-11	2006-05-17		ENSG00000113594	ENSG00000113594		"CD molecules", "Fibronectin type III domain containing"	6597	protein-coding gene	gene with protein product		151443	"leukemia inhibitory factor receptor"			1915266	Standard	NM_001127671		Approved	CD118	uc003jli.2	P42702	OTTHUMG00000131138	ENST00000263409.4:c.2057T>G	5.37:g.38493716A>C	ENSP00000263409:p.Ile686Arg					LIFR_ENST00000503088.1_5'UTR|LIFR_ENST00000453190.2_Missense_Mutation_p.I686R	p.I686R	NM_002310.5	NP_002301.1	P42702	LIFR_HUMAN			14	2219	-	all_lung(31;0.00021)		686			Fibronectin type-III 5.		Q6LCD9	Missense_Mutation	SNP	ENST00000263409.4	37	c.2057T>G	CCDS3927.1	.	.	.	.	.	.	.	.	.	.	A	18.92	3.724710	0.68959	.	.	ENSG00000113594	ENST00000263409;ENST00000453190	T;T	0.55052	0.54;0.54	5.68	5.68	0.88126	Fibronectin, type III (1);	0.297066	0.38663	N	0.001605	T	0.69628	0.3132	M	0.79258	2.445	0.33249	D	0.558239	D	0.64830	0.994	P	0.60173	0.87	T	0.80966	-0.1146	10	0.87932	D	0	-23.4255	13.9631	0.64193	1.0:0.0:0.0:0.0	.	686	P42702	LIFR_HUMAN	R	686	ENSP00000263409:I686R;ENSP00000398368:I686R	ENSP00000263409:I686R	I	-	2	0	LIFR	38529473	0.775000	0.28604	0.056000	0.19401	0.014000	0.08584	3.959000	0.56744	2.289000	0.77006	0.482000	0.46254	ATA		0.398	LIFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253823.1	NM_002310		45	66	0	0	0	1	0	45	66					C	38493716	A	C	38493716	3	2	146	1	0	0	0	0	1	0	0	0	8780	449	16	5	1264	5	LIFR	5	38493716	Missense_Mutation	SNP	A	TCGA-FC-A6HD-01A-11D-A31L-08		38493716	142421544	15	7246											
HSPA4	3308	broad.mit.edu	37	chr5	132425287	132425291	+	Frame_Shift_Del	DEL	TCCTT	TCCTT	-																															ttttccaaaaatcatgctgcTcctttctctaaagttcttac																										TCGA-FC-A6HD-01A-11D-A31L-08	TCGA-FC-A6HD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b784d464-ed48-4b7e-ae31-b3fe20d63594	955bd0b6-b0f9-4092-9509-d09a7c632fd1	g.chr5:132425287_132425291delTCCTT	ENST00000304858.2	+	11	1567_1571	c.1278_1282delTCCTT	c.(1276-1284)gctcctttcfs	p.PF427fs		NM_002154.3	NP_002145.3	P34932	HSP74_HUMAN	heat shock 70kDa protein 4	427					chaperone-mediated protein complex assembly (GO:0051131)|protein import into mitochondrial outer membrane (GO:0045040)|response to unfolded protein (GO:0006986)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(10)|stomach(1)	32			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			ATCATGCTGCTCCTTTCTCTAAAGT	0.385																																					Colon(114;1299 1588 6063 12302 48757)	ENST00000304858.2																			0				NS(2)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(10)|stomach(1)	32						c.(1276-1284)gctcfs		heat shock 70kDa protein 4																																				SO:0001589	frameshift_variant	3308				cellular chaperone-mediated protein complex assembly|protein import into mitochondrial outer membrane|response to unfolded protein	cytoplasm|nucleus	ATP binding	g.chr5:132425287_132425291delTCCTT	AB023420	CCDS4166.1	5q31.1	2011-09-07	2002-08-29		ENSG00000170606	ENSG00000170606		"Heat shock proteins / HSP70"	5237	protein-coding gene	gene with protein product	"hsp70 RY"	601113	"heat shock 70kD protein 4"			8335910	Standard	NM_002154		Approved	HS24/P52, HSPH2	uc003kyj.3	P34932	OTTHUMG00000129012	ENST00000304858.2:c.1278_1282delTCCTT	5.37:g.132425287_132425291delTCCTT	ENSP00000302961:p.Pro427fs						p.APF426fs	NM_002154.3	NP_002145.3	P34932	HSP74_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		11	1567_1571	+			426					O95756|Q2TAL4|Q9BUK9	Frame_Shift_Del	DEL	ENST00000304858.2	37	c.1278_1282delTCCTT	CCDS4166.1																																																																																				0.385	HSPA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251011.1	NM_002154, NM_198431		12	34						12	34	---	---	---	---	-	132425291	TCCTT	-	132425287	7	5	146	1	0	1	0	1	0	0	0	0	7412	1538	54	0	1320	0	HSPA4	5	132425287	Frame_Shift_Del	DEL	TCCTT	TCGA-FC-A6HD-01A-11D-A31L-08	93931571	132425287	48489973	16	7247											
PCDHB16	57717	broad.mit.edu	37	chr5	140563061	140563061	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctgagaaagcaagtagatttCgaaatggttacgtcttatga	14	12	10	5	2	1	3	0	2	1	2	2	5	1	3	0	1	2	3	0	1	6	4			TCGA-FC-A6HD-01A-11D-A31L-08	TCGA-FC-A6HD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b784d464-ed48-4b7e-ae31-b3fe20d63594	955bd0b6-b0f9-4092-9509-d09a7c632fd1	g.chr5:140563061C>T	ENST00000361016.2	+	1	2082	c.927C>T	c.(925-927)ttC>ttT	p.F309F		NM_020957.1	NP_066008.1	Q9NRJ7	PCDBG_HUMAN	protocadherin beta 16	309	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|endometrium(10)|kidney(3)|large_intestine(14)|lung(29)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|urinary_tract(1)	69			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AAGTAGATTTCGAAATGGTTA	0.443																																						ENST00000361016.2																			0				breast(1)|endometrium(10)|kidney(3)|large_intestine(14)|lung(29)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|urinary_tract(1)	69						c.(925-927)ttC>ttT									85	93	90					5																	140563061		2202	4300	6502	SO:0001819	synonymous_variant	0				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140563061C>T	AF217757	CCDS4251.1	5q31	2014-04-11			ENSG00000196963			"Cadherins / Protocadherins : Clustered"	14546	other	protocadherin	"cadherin ME1", "protocadherin-3x", "PCDHbeta 16"	606345				11230163, 11322959	Standard	NM_020957		Approved	PCDHB8a, PCDH3X, KIAA1621, PCDH-BETA16, ME1	uc003liv.3	Q9NRJ7	OTTHUMG00000188325	ENST00000361016.2:c.927C>T	5.37:g.140563061C>T							p.F309F	NM_020957.1	NP_066008.1	Q9NRJ7	PCDBG_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	2082	+			309			Cadherin 3.		B3KPK5|Q8IYD5|Q96SE9|Q9HCF1	Silent	SNP	ENST00000361016.2	37	c.927C>T	CCDS4251.1																																																																																				0.443	PCDHB16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251800.1	NM_020957		20	73	0	0	0	1	0	20	73					T	140563061	C	T	140563061	2	4	146	1	0	0	0	0	0	0	0	1	11541	883	31	2		2	PCDHB16	5	140563061	Silent	SNP	C	TCGA-FC-A6HD-01A-11D-A31L-08	8137774	140563061	40352199	17	7248											
C5orf41	153222	broad.mit.edu	37	chr5	172517939	172517939	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacagagccggcccttgttgAgccagattcacacagatgca	12	7	10	12	1	1	4	1	1	0	3	1	4	1	4	3	1	4	2	3	1	1	3			TCGA-FC-A6HD-01A-11D-A31L-08	TCGA-FC-A6HD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b784d464-ed48-4b7e-ae31-b3fe20d63594	955bd0b6-b0f9-4092-9509-d09a7c632fd1	g.chr5:172517939A>T	ENST00000296953.2	+	4	1076	c.757A>T	c.(757-759)Agc>Tgc	p.S253C	CREBRF_ENST00000522692.1_Missense_Mutation_p.S253C|CREBRF_ENST00000540014.1_Missense_Mutation_p.S253C|CREBRF_ENST00000520420.1_Missense_Mutation_p.S253C	NM_153607.2	NP_705835.2	Q8IUR6	CRERF_HUMAN	CREB3 regulatory factor	253					negative regulation of endoplasmic reticulum unfolded protein response (GO:1900102)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of intracellular transport (GO:0032388)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein transport (GO:0051222)|response to endoplasmic reticulum stress (GO:0034976)|response to unfolded protein (GO:0006986)|transcription, DNA-templated (GO:0006351)|transport (GO:0006810)	cytoplasm (GO:0005737)|nuclear body (GO:0016604)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)										GCCCTTGTTGAGCCAGATTCA	0.443																																						ENST00000540014.1																			0											c.(757-759)Agc>Tgc		CREB3 regulatory factor							71	71	71					5																	172517939		2203	4300	6503	SO:0001583	missense	153222						protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr5:172517939A>T	AY139008	CCDS34293.1, CCDS54948.1	5q35.2	2012-03-06	2012-03-06	2012-03-06	ENSG00000164463	ENSG00000164463			24050	protein-coding gene	gene with protein product	"luman/CREB3 recruitment factor"		"chromosome 5 open reading frame 41"	C5orf41		18391022	Standard	NM_153607		Approved	LRF	uc003mch.3	Q8IUR6	OTTHUMG00000163322	ENST00000296953.2:c.757A>T	5.37:g.172517939A>T	ENSP00000296953:p.Ser253Cys					CREBRF_ENST00000296953.2_Missense_Mutation_p.S253C|CREBRF_ENST00000522692.1_Missense_Mutation_p.S253C|CREBRF_ENST00000520420.1_Missense_Mutation_p.S253C	p.S253C			Q8IUR6	CE041_HUMAN			4	1076	+			253					B3DFH2|B3KW49|D3DQM2|F5GXN3|Q5HYG4|Q5HYK0|Q86YR3|Q8IZG1	Missense_Mutation	SNP	ENST00000296953.2	37	c.757A>T	CCDS34293.1	.	.	.	.	.	.	.	.	.	.	A	20.7	4.028432	0.75390	.	.	ENSG00000164463	ENST00000522692;ENST00000296953;ENST00000540014;ENST00000520420;ENST00000538538;ENST00000393776	T;T	0.49720	0.77;0.77	5.43	5.43	0.79202	.	0.212395	0.49916	D	0.000123	T	0.54791	0.1880	L	0.32530	0.975	0.54753	D	0.999984	D;D	0.69078	0.99;0.997	P;P	0.59889	0.785;0.865	T	0.58901	-0.7554	10	0.72032	D	0.01	.	15.4644	0.75387	1.0:0.0:0.0:0.0	.	253;253	Q8IUR6;Q8IUR6-2	CE041_HUMAN;.	C	253	ENSP00000296953:S253C;ENSP00000440075:S253C	ENSP00000296953:S253C	S	+	1	0	C5orf41	172450545	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	4.116000	0.57871	2.060000	0.61445	0.460000	0.39030	AGC		0.443	CREBRF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372667.1	NM_153607		5	79	0	0	0	1	0	5	79					T	172517939	A	T	172517939	3	4	146	1	0	0	0	0	1	0	0	0	2300	304	11	5	767	5	C5orf41	5	172517939	Missense_Mutation	SNP	A	TCGA-FC-A6HD-01A-11D-A31L-08	31954878	172517939	8397321	18	7249											
CUTA	51596	broad.mit.edu	37	chr6	33385083	33385083	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctaggcgcttctccaccaCggccctggagtgaagagaca	9	7	12	13	2	1	2	0	1	1	1	2	4	1	3	3	3	1	2	3	3	2	2			TCGA-FC-A6HD-01A-11D-A31L-08	TCGA-FC-A6HD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b784d464-ed48-4b7e-ae31-b3fe20d63594	955bd0b6-b0f9-4092-9509-d09a7c632fd1	g.chr6:33385083C>T	ENST00000488034.1	-	3	383	c.262G>A	c.(262-264)Gtg>Atg	p.V88M	CUTA_ENST00000492510.1_5'Flank|CUTA_ENST00000440279.3_Missense_Mutation_p.V65M|SYNGAP1_ENST00000418600.2_5'Flank|CUTA_ENST00000488478.1_Missense_Mutation_p.V88M|SYNGAP1_ENST00000293748.5_5'Flank|CUTA_ENST00000494751.1_Missense_Mutation_p.V65M|CUTA_ENST00000374500.5_Missense_Mutation_p.V107M|CUTA_ENST00000607266.1_Missense_Mutation_p.V65M|CUTA_ENST00000374496.3_Missense_Mutation_p.V65M	NM_001014837.1|NM_001014838.1|NM_001014840.1|NM_015921.2	NP_001014837.1|NP_001014838.1|NP_001014840.1|NP_057005.1	O60888	CUTA_HUMAN	cutA divalent cation tolerance homolog (E. coli)	88					protein localization (GO:0008104)|response to metal ion (GO:0010038)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	enzyme binding (GO:0019899)		SLC22A1/CUTA(2)	kidney(1)|lung(3)|urinary_tract(1)	5						TTCTCCACCACGGCCCTGGAG	0.537																																						ENST00000374500.5																		SLC22A1/CUTA(2)	0				kidney(1)|lung(3)|urinary_tract(1)	5						c.(319-321)Gtg>Atg		cutA divalent cation tolerance homolog (E. coli)							73	74	74					6																	33385083		2203	4300	6503	SO:0001583	missense	51596				protein localization|response to metal ion	membrane	enzyme binding	g.chr6:33385083C>T	AF106943	CCDS4779.1, CCDS34432.1, CCDS34433.1	6p21.32	2008-02-04	2006-02-15	2006-02-15	ENSG00000112514	ENSG00000112514			21101	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 82", "acetylcholinesterase-associated protein"	C6orf82, ACHAP			Standard	XM_006715108		Approved		uc003oen.1	O60888	OTTHUMG00000031254	ENST00000488034.1:c.262G>A	6.37:g.33385083C>T	ENSP00000417544:p.Val88Met					CUTA_ENST00000494751.1_Missense_Mutation_p.V65M|CUTA_ENST00000440279.3_Missense_Mutation_p.V65M|CUTA_ENST00000488478.1_Missense_Mutation_p.V88M|CUTA_ENST00000607266.1_Missense_Mutation_p.V65M|CUTA_ENST00000488034.1_Missense_Mutation_p.V88M|CUTA_ENST00000374496.3_Missense_Mutation_p.V65M	p.V107M	NM_001014433.2	NP_001014433.1	O60888	CUTA_HUMAN			3	450	-			88					A2AB26|A2BEL4|Q3B784|Q5JXM9|Q5SU05|Q9NYQ9	Missense_Mutation	SNP	ENST00000488034.1	37	c.319G>A	CCDS34433.1	.	.	.	.	.	.	.	.	.	.	C	16.49	3.136754	0.56936	.	.	ENSG00000112514	ENST00000374500;ENST00000440279;ENST00000488034;ENST00000494751;ENST00000488478;ENST00000374496	.	.	.	5.31	4.43	0.53597	Nitrogen regulatory PII-like, alpha/beta (1);	0.184707	0.48767	D	0.000176	T	0.59702	0.2213	L	0.49640	1.575	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.71184	0.953;0.972	T	0.65809	-0.6078	9	0.87932	D	0	-2.0359	11.1377	0.48383	0.184:0.816:0.0:0.0	.	107;88	O60888-2;O60888	.;CUTA_HUMAN	M	107;65;88;65;88;65	.	ENSP00000363620:V65M	V	-	1	0	CUTA	33493061	0.634000	0.27190	1.000000	0.80357	0.618000	0.37518	0.543000	0.23237	1.453000	0.47775	0.561000	0.74099	GTG		0.537	CUTA-008	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000076541.3	NM_015921		22	33	0	0	0	1	0	22	33					T	33385083	C	T	33385083	3	4	146	1	0	0	0	0	1	0	0	0	4062	536	19	1	293	1	CUTA	6	33385083	Missense_Mutation	SNP	C	TCGA-FC-A6HD-01A-11D-A31L-08		33385083	137729984	19	7250											
GPNMB	10457	broad.mit.edu	37	chr7	23300355	23300355	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaccttgtccgccaccgccAccaccacccagaccttcaaa	10	5	6	20	2	1	1	1	0	0	1	2	2	2	2	9	1	0	0	9	1	1	2			TCGA-FC-A6HD-01A-11D-A31L-08	TCGA-FC-A6HD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b784d464-ed48-4b7e-ae31-b3fe20d63594	955bd0b6-b0f9-4092-9509-d09a7c632fd1	g.chr7:23300355A>G	ENST00000381990.2	+	6	1142	c.981A>G	c.(979-981)ccA>ccG	p.P327P	GPNMB_ENST00000258733.4_Silent_p.P327P|GPNMB_ENST00000453162.2_Silent_p.P269P|GPNMB_ENST00000539136.1_Silent_p.P228P	NM_001005340.1|NM_002510.2	NP_001005340.1|NP_002501.1	Q14956	GPNMB_HUMAN	glycoprotein (transmembrane) nmb	327	PKD. {ECO:0000255|PROSITE- ProRule:PRU00151}.|Poly-Pro.				bone mineralization (GO:0030282)|cell adhesion (GO:0007155)|negative regulation of cell proliferation (GO:0008285)|osteoblast differentiation (GO:0001649)	cytoplasmic membrane-bounded vesicle (GO:0016023)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	heparin binding (GO:0008201)			breast(5)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(2)|lung(17)|ovary(3)|stomach(2)	41			GBM - Glioblastoma multiforme(13;0.154)			CGCCACCGCCACCACCACCCA	0.502																																						ENST00000258733.4																			0				breast(5)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(2)|lung(17)|ovary(3)|stomach(2)	41						c.(979-981)ccA>ccG		glycoprotein (transmembrane) nmb							120	129	126					7																	23300355		2203	4300	6503	SO:0001819	synonymous_variant	10457				negative regulation of cell proliferation	melanosome		g.chr7:23300355A>G	X76534	CCDS5380.1, CCDS34610.1	7p	2008-07-18			ENSG00000136235	ENSG00000136235			4462	protein-coding gene	gene with protein product	"transmembrane glycoprotein", "glycoprotein NMB", "glycoprotein nmb-like protein", "osteoactivin"	604368				7814155	Standard	NM_002510		Approved	NMB, HGFIN	uc003swc.3	Q14956	OTTHUMG00000022811	ENST00000381990.2:c.981A>G	7.37:g.23300355A>G						GPNMB_ENST00000539136.1_Silent_p.P228P|GPNMB_ENST00000381990.2_Silent_p.P327P|GPNMB_ENST00000453162.2_Silent_p.P269P	p.P327P			Q14956	GPNMB_HUMAN	GBM - Glioblastoma multiforme(13;0.154)		6	1276	+			327			PKD.|Poly-Pro.		A4D155|Q6UVX1|Q8N1A1	Silent	SNP	ENST00000381990.2	37	c.981A>G	CCDS34610.1																																																																																				0.502	GPNMB-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000327152.1	NM_001005340		48	114	0	0	0	1	0	48	114					G	23300355	A	G	23300355	2	3	146	1	0	0	0	0	0	0	0	1	6620	146	6	4		4	GPNMB	7	23300355	Silent	SNP	A	TCGA-FC-A6HD-01A-11D-A31L-08		23300355	135838308	20	7251											
SRCRB4D	136853	broad.mit.edu	37	chr7	76029672	76029672	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccagccgcggctgccgcactCgctcagcgcagcttcctgcc	4	6	11	20	5	1	0	1	0	0	0	3	0	2	0	5	1	5	5	5	1	0	1			TCGA-FC-A6HD-01A-11D-A31L-08	TCGA-FC-A6HD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b784d464-ed48-4b7e-ae31-b3fe20d63594	955bd0b6-b0f9-4092-9509-d09a7c632fd1	g.chr7:76029672C>T	ENST00000275560.3	-	4	753	c.406G>A	c.(406-408)Gag>Aag	p.E136K	ZP3_ENST00000336517.4_Intron	NM_080744.1	NP_542782.1														autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(9)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	21						CTGCCGCACTCGCTCAGCGCA	0.672																																						ENST00000275560.3																			0				autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(9)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	21						c.(406-408)Gag>Aag		scavenger receptor cysteine rich domain containing, group B (4 domains)							29	31	31					7																	76029672		2191	4282	6473	SO:0001583	missense	136853					extracellular region|membrane	scavenger receptor activity	g.chr7:76029672C>T																												ENST00000275560.3:c.406G>A	7.37:g.76029672C>T	ENSP00000275560:p.Glu136Lys					ZP3_ENST00000336517.4_Intron	p.E136K	NM_080744.1	NP_542782.1	Q8WTU2	SRB4D_HUMAN			4	753	-			136			SRCR 1.			Missense_Mutation	SNP	ENST00000275560.3	37	c.406G>A	CCDS5585.1	.	.	.	.	.	.	.	.	.	.	C	18.09	3.545195	0.65198	.	.	ENSG00000146700	ENST00000275560	T	0.51325	0.71	5.45	2.58	0.30949	Speract/scavenger receptor (2);Speract/scavenger receptor-related (2);	0.179318	0.49916	D	0.000129	T	0.40067	0.1102	L	0.51914	1.62	0.80722	D	1	P	0.43826	0.818	B	0.43413	0.419	T	0.14755	-1.0461	10	0.12430	T	0.62	.	10.0474	0.42195	0.0:0.509:0.4181:0.0729	.	136	Q8WTU2	SRB4D_HUMAN	K	136	ENSP00000275560:E136K	ENSP00000275560:E136K	E	-	1	0	SRCRB4D	75867608	1.000000	0.71417	0.968000	0.41197	0.905000	0.53344	2.345000	0.44018	0.321000	0.23259	0.563000	0.77884	GAG		0.672	SRCRB4D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253001.3			7	75	0	0	0	1	0	7	75					T	76029672	C	T	76029672	3	4	146	1	0	0	0	0	1	0	0	0	15136	893	31	2	1353	2	SRCRB4D	7	76029672	Missense_Mutation	SNP	C	TCGA-FC-A6HD-01A-11D-A31L-08	52729317	76029672	83108991	21	7252											
OR2A2	442361	broad.mit.edu	37	chr7	143806868	143806868	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtacttcttcctctcacacCtggccatcattgacatgtcc	7	14	5	15	0	3	1	2	1	2	0	6	1	5	1	4	1	1	1	4	1	1	4			TCGA-FC-A6HD-01A-11D-A31L-08	TCGA-FC-A6HD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b784d464-ed48-4b7e-ae31-b3fe20d63594	955bd0b6-b0f9-4092-9509-d09a7c632fd1	g.chr7:143806868C>T	ENST00000408979.2	+	1	262	c.193C>T	c.(193-195)Ctg>Ttg	p.L65L		NM_001005480.2	NP_001005480.2	Q6IF42	OR2A2_HUMAN	olfactory receptor, family 2, subfamily A, member 2	65						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)|skin(4)	22	Melanoma(164;0.0783)					CCTCTCACACCTGGCCATCAT	0.453																																						ENST00000408979.2																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)|skin(4)	22						c.(193-195)Ctg>Ttg		olfactory receptor, family 2, subfamily A, member 2							215	211	212					7																	143806868		2105	4252	6357	SO:0001819	synonymous_variant	442361				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr7:143806868C>T		CCDS43671.1	7q35	2013-09-20		2004-03-10	ENSG00000221989	ENSG00000221989		"GPCR / Class A : Olfactory receptors"	8230	protein-coding gene	gene with protein product				OR2A2P, OR2A17P			Standard	NM_001005480		Approved	OST008	uc011ktz.2	Q6IF42	OTTHUMG00000158001	ENST00000408979.2:c.193C>T	7.37:g.143806868C>T							p.L65L	NM_001005480.2	NP_001005480.2	Q6IF42	OR2A2_HUMAN			1	262	+	Melanoma(164;0.0783)		65					B2RN85|Q8NGT6	Silent	SNP	ENST00000408979.2	37	c.193C>T	CCDS43671.1																																																																																				0.453	OR2A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349978.1			7	194	0	0	0	1	0	7	194					T	143806868	C	T	143806868	2	4	146	1	0	0	0	0	0	0	0	1	10977	680	24	3		3	OR2A2	7	143806868	Silent	SNP	C	TCGA-FC-A6HD-01A-11D-A31L-08	67777196	143806868	15331795	22	7253											
KIAA1967	57805	broad.mit.edu	37	chr8	22464425	22464425	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggcttgtgtgctgacagtgTggtgaagggccgtctgcccc	4	11	16	10	1	1	2	0	2	1	0	1	2	1	2	3	3	2	2	3	3	1	1			TCGA-FC-A6HD-01A-11D-A31L-08	TCGA-FC-A6HD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b784d464-ed48-4b7e-ae31-b3fe20d63594	955bd0b6-b0f9-4092-9509-d09a7c632fd1	g.chr8:22464425T>C	ENST00000308511.4	+	5	494	c.245T>C	c.(244-246)gTg>gCg	p.V82A	CCAR2_ENST00000389279.3_Missense_Mutation_p.V82A|CCAR2_ENST00000520861.1_5'UTR			Q8N163	CCAR2_HUMAN	cell cycle and apoptosis regulator 2	82					cell cycle (GO:0007049)|cellular response to DNA damage stimulus (GO:0006974)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|mRNA processing (GO:0006397)|negative regulation of catalytic activity (GO:0043086)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902230)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA damage checkpoint (GO:2000003)|regulation of circadian rhythm (GO:0042752)|regulation of DNA-templated transcription, elongation (GO:0032784)|regulation of protein stability (GO:0031647)|response to UV (GO:0009411)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|DBIRD complex (GO:0044609)|mitochondrial matrix (GO:0005759)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|poly(A) RNA binding (GO:0044822)|RNA polymerase II core binding (GO:0000993)										GCTGACAGTGTGGTGAAGGGC	0.602																																						ENST00000308511.4																			0				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(3)|ovary(1)|skin(5)	25						c.(244-246)gTg>gCg									59	56	57					8																	22464425		2203	4300	6503	SO:0001583	missense	0				apoptosis|positive regulation of apoptosis	mitochondrial matrix|nucleus	enzyme binding|enzyme inhibitor activity	g.chr8:22464425T>C	AL834351	CCDS34863.1	8p22	2013-08-22	2013-08-22	2013-08-22		ENSG00000158941			23360	protein-coding gene	gene with protein product	"deleted in breast cancer"	607359	"KIAA1967"	KIAA1967		12370419	Standard	NM_021174		Approved	DBC-1, DBC1, NET35	uc003xci.3	Q8N163		ENST00000308511.4:c.245T>C	8.37:g.22464425T>C	ENSP00000310670:p.Val82Ala					KIAA1967_ENST00000389279.3_Missense_Mutation_p.V82A|KIAA1967_ENST00000520861.1_5'UTR	p.V82A			Q8N163	K1967_HUMAN		BRCA - Breast invasive adenocarcinoma(99;0.00593)|Colorectal(74;0.0157)|COAD - Colon adenocarcinoma(73;0.064)	5	494	+		Prostate(55;0.0421)|Breast(100;0.102)|all_epithelial(46;0.142)	82					A6NL03|B2RB79|D3DSR6|Q6P0Q9|Q8N3G7|Q8N8M1|Q8TF34|Q9H9Q9|Q9HD12|Q9NT55	Missense_Mutation	SNP	ENST00000308511.4	37	c.245T>C	CCDS34863.1	.	.	.	.	.	.	.	.	.	.	T	10.39	1.336978	0.24253	.	.	ENSG00000158941	ENST00000308511;ENST00000389279;ENST00000521837;ENST00000523349	T;T	0.32515	1.45;1.45	6.17	6.17	0.99709	.	0.000000	0.64402	D	0.000004	T	0.16938	0.0407	N	0.10782	0.045	0.80722	D	1	B	0.30326	0.276	B	0.33254	0.16	T	0.21075	-1.0256	10	0.21014	T	0.42	-25.0029	9.2172	0.37355	0.0:0.0796:0.0:0.9204	.	82	Q8N163	K1967_HUMAN	A	82	ENSP00000310670:V82A;ENSP00000373930:V82A	ENSP00000310670:V82A	V	+	2	0	KIAA1967	22520370	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.530000	0.45641	2.371000	0.80710	0.533000	0.62120	GTG		0.602	CCAR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375865.1	NM_021174		30	34	0	0	0	1	0	30	34					C	22464425	T	C	22464425	3	2	146	1	0	0	0	0	1	0	0	0	8265	1696	59	4	259	4	KIAA1967	8	22464425	Missense_Mutation	SNP	T	TCGA-FC-A6HD-01A-11D-A31L-08		22464425	123899597	23	7254											
DCAF4L2	138009	broad.mit.edu	37	chr8	88886040	88886040	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggacctttttcctctgcaTgcagcttacacgcagctcgc	6	12	8	15	2	1	0	0	0	1	0	3	1	2	1	2	1	5	5	2	1	1	3			TCGA-FC-A6HD-01A-11D-A31L-08	TCGA-FC-A6HD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b784d464-ed48-4b7e-ae31-b3fe20d63594	955bd0b6-b0f9-4092-9509-d09a7c632fd1	g.chr8:88886040T>C	ENST00000319675.3	-	1	256	c.160A>G	c.(160-162)Atg>Gtg	p.M54V		NM_152418.3	NP_689631.1	Q8NA75	DC4L2_HUMAN	DDB1 and CUL4 associated factor 4-like 2	54										breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	83						TTCCTCTGCATGCAGCTTACA	0.507																																						ENST00000319675.3																			0				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	83						c.(160-162)Atg>Gtg		DDB1 and CUL4 associated factor 4-like 2							119	108	112					8																	88886040		2203	4300	6503	SO:0001583	missense	138009							g.chr8:88886040T>C	AL833507	CCDS6245.1	8q21.3	2013-01-09	2009-07-17	2009-07-17		ENSG00000176566		"WD repeat domain containing"	26657	protein-coding gene	gene with protein product			"WD repeat domain 21C"	WDR21C		14702039	Standard	NM_152418		Approved		uc003ydz.3	Q8NA75		ENST00000319675.3:c.160A>G	8.37:g.88886040T>C	ENSP00000316496:p.Met54Val						p.M54V	NM_152418.3	NP_689631.1	Q8NA75	DC4L2_HUMAN			1	256	-			54						Missense_Mutation	SNP	ENST00000319675.3	37	c.160A>G	CCDS6245.1	.	.	.	.	.	.	.	.	.	.	T	9.013	0.982984	0.18889	.	.	ENSG00000176566	ENST00000319675	T	0.68624	-0.34	1.92	-3.84	0.04256	WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.64768	0.2628	M	0.71581	2.175	0.09310	N	1	P	0.51240	0.943	P	0.53146	0.719	T	0.59273	-0.7485	10	0.48119	T	0.1	.	3.6001	0.08021	0.0:0.188:0.4621:0.35	.	54	Q8NA75	DC4L2_HUMAN	V	54	ENSP00000316496:M54V	ENSP00000316496:M54V	M	-	1	0	DCAF4L2	88955156	1.000000	0.71417	0.008000	0.14137	0.093000	0.18481	1.018000	0.30002	-0.874000	0.04027	0.383000	0.25322	ATG		0.507	DCAF4L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375302.1	NM_152418		32	59	0	0	0	1	0	32	59					C	88886040	T	C	88886040	3	2	146	1	0	0	0	0	1	0	0	0	4272	1464	51	4	1031	4	DCAF4L2	8	88886040	Missense_Mutation	SNP	T	TCGA-FC-A6HD-01A-11D-A31L-08	66421615	88886040	57477982	24	7255											
SLC2A8	29988	broad.mit.edu	37	chr9	130167187	130167187	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctcctcgcacgtggccatctCggcgcctgtctctgcacagc	4	9	10	18	4	2	0	0	0	2	0	6	0	3	0	3	2	2	2	3	2	0	0			TCGA-FC-A6HD-01A-11D-A31L-08	TCGA-FC-A6HD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b784d464-ed48-4b7e-ae31-b3fe20d63594	955bd0b6-b0f9-4092-9509-d09a7c632fd1	g.chr9:130167187C>T	ENST00000373371.3	+	8	1156	c.1067C>T	c.(1066-1068)tCg>tTg	p.S356L	SLC2A8_ENST00000485806.1_3'UTR|SLC2A8_ENST00000373360.3_Missense_Mutation_p.S356L|SLC2A8_ENST00000373352.1_Missense_Mutation_p.S93L	NM_001271712.1|NM_014580.3	NP_001258641.1|NP_055395.2	Q9NY64	GTR8_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 8	356					carbohydrate metabolic process (GO:0005975)|glucose transport (GO:0015758)|insulin receptor signaling pathway (GO:0008286)|male meiosis I (GO:0007141)|response to hypoxia (GO:0001666)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	glucose binding (GO:0005536)|glucose transmembrane transporter activity (GO:0005355)	p.S356L(1)		cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)	11						GTGGCCATCTCGGCGCCTGTC	0.667																																						ENST00000373371.3																			1	Substitution - Missense(1)	p.S356L(1)	cervix(1)	cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)	11						c.(1066-1068)tCg>tTg		solute carrier family 2 (facilitated glucose transporter), member 8							69	64	66					9																	130167187		2203	4298	6501	SO:0001583	missense	29988					cytoplasmic vesicle membrane|integral to plasma membrane	D-glucose transmembrane transporter activity	g.chr9:130167187C>T	AJ245937	CCDS6870.1, CCDS65138.1, CCDS75903.1	9q33.3	2013-05-22	2008-09-02		ENSG00000136856	ENSG00000136856		"Solute carriers"	13812	protein-coding gene	gene with protein product		605245	"solute carrier family 2 (facilitated glucose transporter) member 8"			10671487, 10821868	Standard	NM_014580		Approved	GLUTX1, GLUT8	uc004bqu.4	Q9NY64	OTTHUMG00000020702	ENST00000373371.3:c.1067C>T	9.37:g.130167187C>T	ENSP00000362469:p.Ser356Leu					SLC2A8_ENST00000485806.1_3'UTR|SLC2A8_ENST00000373352.1_Missense_Mutation_p.S93L|SLC2A8_ENST00000373360.3_Missense_Mutation_p.S356L	p.S356L	NM_001271712.1|NM_014580.3	NP_001258641.1|NP_055395.2	Q9NY64	GTR8_HUMAN			8	1156	+			356					Q8WUZ9|Q9NSC4	Missense_Mutation	SNP	ENST00000373371.3	37	c.1067C>T	CCDS6870.1	.	.	.	.	.	.	.	.	.	.	C	3.997	-0.003275	0.07773	.	.	ENSG00000136856	ENST00000373371;ENST00000451404;ENST00000373352;ENST00000373360;ENST00000439597;ENST00000423934;ENST00000373350;ENST00000430147	D;T;D;T;D;T;T	0.88741	-1.63;-1.48;-2.39;0.54;-2.42;-1.36;-1.29	5.43	0.452	0.16634	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	1.704240	0.03143	N	0.166919	T	0.68403	0.2997	N	0.01482	-0.84	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.04013	0.001;0.0	T	0.66952	-0.5793	10	0.05525	T	0.97	.	4.7436	0.13026	0.1327:0.3124:0.0:0.5549	.	356;356	Q5VVV9;Q9NY64	.;GTR8_HUMAN	L	356;193;93;356;195;221;221;195	ENSP00000362469:S356L;ENSP00000392434:S193L;ENSP00000362450:S93L;ENSP00000362458:S356L;ENSP00000404893:S195L;ENSP00000389070:S221L;ENSP00000391213:S195L	ENSP00000362448:S221L	S	+	2	0	SLC2A8	129207008	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.087000	0.14958	-0.093000	0.12396	-0.302000	0.09304	TCG		0.667	SLC2A8-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054177.1	NM_014580		43	67	0	0	0	1	0	43	67					T	130167187	C	T	130167187	3	4	146	1	0	0	0	0	1	0	0	0	14551	893	31	2	1097	2	SLC2A8	9	130167187	Missense_Mutation	SNP	C	TCGA-FC-A6HD-01A-11D-A31L-08		130167187	11046244	25	7256											
P2RY6	5031	broad.mit.edu	37	chr11	73007592	73007592	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggacaatggcacaggccaggCtctgggcttgccacccacca	9	5	12	15	0	1	0	0	0	1	0	1	1	1	1	4	5	1	3	4	5	1	1			TCGA-FC-A6HD-01A-11D-A31L-08	TCGA-FC-A6HD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b784d464-ed48-4b7e-ae31-b3fe20d63594	955bd0b6-b0f9-4092-9509-d09a7c632fd1	g.chr11:73007592C>G	ENST00000393590.2	+	2	328	c.29C>G	c.(28-30)gCt>gGt	p.A10G	P2RY6_ENST00000393591.1_Missense_Mutation_p.A10G|P2RY6_ENST00000542092.1_Missense_Mutation_p.A10G|P2RY6_ENST00000349767.2_Missense_Mutation_p.A10G|P2RY6_ENST00000540124.1_Missense_Mutation_p.A10G|P2RY6_ENST00000538328.1_Missense_Mutation_p.A10G|P2RY6_ENST00000393592.2_Missense_Mutation_p.A10G|P2RY6_ENST00000540342.1_Missense_Mutation_p.A10G	NM_001277207.1|NM_001277208.1	NP_001264136.1|NP_001264137.1	Q15077	P2RY6_HUMAN	pyrimidinergic receptor P2Y, G-protein coupled, 6	10					phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled purinergic nucleotide receptor activity (GO:0045028)|G-protein coupled receptor activity (GO:0004930)			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(2)	14						ACAGGCCAGGCTCTGGGCTTG	0.602																																						ENST00000393590.2																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(2)	14						c.(28-30)gCt>gGt		pyrimidinergic receptor P2Y, G-protein coupled, 6							88	91	90					11																	73007592		2200	4293	6493	SO:0001583	missense	0				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger	integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	g.chr11:73007592C>G		CCDS8220.1	11q13.5	2012-08-08				ENSG00000171631		"Purinergic receptors", "GPCR / Class A : Purinergic receptors, P2Y"	8543	protein-coding gene	gene with protein product		602451				8670200	Standard	NM_176797		Approved	P2Y6	uc001otr.4	Q15077		ENST00000393590.2:c.29C>G	11.37:g.73007592C>G	ENSP00000377215:p.Ala10Gly					P2RY6_ENST00000538328.1_Missense_Mutation_p.A10G|P2RY6_ENST00000393591.1_Missense_Mutation_p.A10G|P2RY6_ENST00000540342.1_Missense_Mutation_p.A10G|P2RY6_ENST00000542092.1_Missense_Mutation_p.A10G|P2RY6_ENST00000393592.2_Missense_Mutation_p.A10G|P2RY6_ENST00000540124.1_Missense_Mutation_p.A10G|P2RY6_ENST00000349767.2_Missense_Mutation_p.A10G	p.A10G	NM_001277207.1|NM_001277208.1	NP_001264136.1|NP_001264137.1	Q15077	P2RY6_HUMAN			2	328	+			10					Q15754	Missense_Mutation	SNP	ENST00000393590.2	37	c.29C>G	CCDS8220.1	.	.	.	.	.	.	.	.	.	.	C	12.98	2.099888	0.37048	.	.	ENSG00000171631	ENST00000540342;ENST00000542092;ENST00000349767;ENST00000393592;ENST00000544437;ENST00000393591;ENST00000540124;ENST00000393590;ENST00000535931;ENST00000538328	T;T;T;T;T;T;T;T;T;T	0.71461	-0.29;-0.29;-0.29;-0.29;1.25;-0.29;-0.29;-0.29;-0.57;-0.29	3.95	0.521	0.17046	.	1.246590	0.05778	N	0.608101	T	0.42291	0.1196	N	0.08118	0	0.09310	N	1	B	0.13594	0.008	B	0.09377	0.004	T	0.33369	-0.9871	10	0.02654	T	1	.	3.1399	0.06452	0.3926:0.3789:0.0:0.2285	.	10	Q15077	P2RY6_HUMAN	G	10	ENSP00000443427:A10G;ENSP00000445652:A10G;ENSP00000309771:A10G;ENSP00000377217:A10G;ENSP00000441079:A10G;ENSP00000377216:A10G;ENSP00000442551:A10G;ENSP00000377215:A10G;ENSP00000440770:A10G;ENSP00000442990:A10G	ENSP00000309771:A10G	A	+	2	0	P2RY6	72685240	0.000000	0.05858	0.000000	0.03702	0.964000	0.63967	-0.891000	0.04135	-0.009000	0.14296	0.491000	0.48974	GCT		0.602	P2RY6-007	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397349.1			5	207	0	0	0	1	0	5	207					G	73007592	C	G	73007592	3	3	146	1	0	0	0	0	1	0	0	0	11354	797	28	5	31	5	P2RY6	11	73007592	Missense_Mutation	SNP	C	TCGA-FC-A6HD-01A-11D-A31L-08		73007592	61998924	26	7257											
TAS2R42	353164	broad.mit.edu	37	chr12	11339091	11339091	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atattgagtgagatatcaatAaatatttctagcactaaact	17	14	5	5	0	2	2	1	2	1	1	2	3	2	2	0	0	2	1	0	0	9	8			TCGA-FC-A6HD-01A-11D-A31L-08	TCGA-FC-A6HD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b784d464-ed48-4b7e-ae31-b3fe20d63594	955bd0b6-b0f9-4092-9509-d09a7c632fd1	g.chr12:11339091A>T	ENST00000334266.1	-	1	452	c.453T>A	c.(451-453)ttT>ttA	p.F151L		NM_181429.1	NP_852094.1	Q7RTR8	T2R42_HUMAN	taste receptor, type 2, member 42	151					sensory perception of taste (GO:0050909)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(1)|kidney(2)|lung(4)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11			OV - Ovarian serous cystadenocarcinoma(49;0.0455)			AGATATCAATAAATATTTCTA	0.289																																					Melanoma(15;352 722 10077 19546 48810)	ENST00000334266.1																			0				breast(1)|kidney(2)|lung(4)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						c.(451-453)ttT>ttA		taste receptor, type 2, member 42							38	40	39					12																	11339091		2196	4294	6490	SO:0001583	missense	353164				sensory perception of taste	integral to membrane	G-protein coupled receptor activity	g.chr12:11339091A>T	AX097739, AB199241	CCDS31747.1	12p13	2012-08-22			ENSG00000186136	ENSG00000186136		"Taste receptors / Type 2", "GPCR / Unclassified : Taste receptors"	18888	protein-coding gene	gene with protein product		613966				12679530	Standard	NM_181429		Approved	T2R24, T2R55, hT2R55, TAS2R55	uc001qzr.1	Q7RTR8	OTTHUMG00000168567	ENST00000334266.1:c.453T>A	12.37:g.11339091A>T	ENSP00000334050:p.Phe151Leu						p.F151L	NM_181429.1	NP_852094.1	Q7RTR8	T2R42_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;0.0455)		1	452	-			151					A2RRP4|Q645X0	Missense_Mutation	SNP	ENST00000334266.1	37	c.453T>A	CCDS31747.1	.	.	.	.	.	.	.	.	.	.	A	2.269	-0.367536	0.05069	.	.	ENSG00000186136	ENST00000334266	T	0.34072	1.38	3.7	-0.394	0.12434	GPCR, rhodopsin-like superfamily (1);	11.790700	0.00166	N	0.000014	T	0.23094	0.0558	N	0.26092	0.79	0.09310	N	1	B	0.20780	0.048	B	0.18871	0.023	T	0.08146	-1.0736	10	0.11485	T	0.65	.	4.309	0.10962	0.4642:0.4173:0.1185:0.0	.	151	Q7RTR8	T2R42_HUMAN	L	151	ENSP00000334050:F151L	ENSP00000334050:F151L	F	-	3	2	TAS2R42	11230358	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.249000	0.08842	0.157000	0.19338	0.533000	0.62120	TTT		0.289	TAS2R42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400243.1	NM_181429		4	40	0	0	0	1	0	4	40					T	11339091	A	T	11339091	3	4	146	1	0	0	0	0	1	0	0	0	15577	359	13	5	495	5	TAS2R42	12	11339091	Missense_Mutation	SNP	A	TCGA-FC-A6HD-01A-11D-A31L-08		11339091	122512804	27	7258											
RECQL	5965	broad.mit.edu	37	chr12	21630844	21630844	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgatttgttgcagttgcagTcagcccaattagtgatgcgt	8	14	12	7	1	1	2	1	2	0	0	1	2	1	2	1	0	4	4	1	0	2	4	rs200538229		TCGA-FC-A6HD-01A-11D-A31L-08	TCGA-FC-A6HD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b784d464-ed48-4b7e-ae31-b3fe20d63594	955bd0b6-b0f9-4092-9509-d09a7c632fd1	g.chr12:21630844T>C	ENST00000444129.2	-	7	1228	c.760A>G	c.(760-762)Act>Gct	p.T254A	RECQL_ENST00000421138.2_Missense_Mutation_p.T254A	NM_002907.3|NM_032941.2	NP_002898.2|NP_116559.1	P46063	RECQ1_HUMAN	RecQ helicase-like	254	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA strand renaturation (GO:0000733)	membrane (GO:0016020)|nucleus (GO:0005634)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|ATP-dependent 3'-5' DNA helicase activity (GO:0043140)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)			endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	17						GCAGTTGCAGTCAGCCCAATT	0.368								Other identified genes with known or suspected DNA repair function																														ENST00000444129.2																			0				endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	17						c.(760-762)Act>Gct	Other identified genes with known or suspected DNA repair function	RecQ protein-like (DNA helicase Q1-like)							96	95	96					12																	21630844		2203	4300	6503	SO:0001583	missense	5965				DNA recombination|DNA repair|DNA replication	nucleus	ATP binding|ATP-dependent 3'-5' DNA helicase activity|DNA strand annealing activity|protein binding	g.chr12:21630844T>C	D37984	CCDS31756.1	12p12.1	2014-03-07	2014-03-07	2014-03-07	ENSG00000004700	ENSG00000004700			9948	protein-coding gene	gene with protein product	"DNA helicase Q1-like"	600537	"RecQ protein-like (DNA helicase Q1-like)"			7527136, 7961977	Standard	NM_002907		Approved	RecQ1, RecQL1	uc001rex.3	P46063	OTTHUMG00000169131	ENST00000444129.2:c.760A>G	12.37:g.21630844T>C	ENSP00000416739:p.Thr254Ala					RECQL_ENST00000421138.2_Missense_Mutation_p.T254A	p.T254A	NM_002907.3|NM_032941.2	NP_002898.2|NP_116559.1	P46063	RECQ1_HUMAN			7	1228	-			254			Helicase ATP-binding.		A8K6G2	Missense_Mutation	SNP	ENST00000444129.2	37	c.760A>G	CCDS31756.1	.	.	.	.	.	.	.	.	.	.	T	16.19	3.053472	0.55218	.	.	ENSG00000004700	ENST00000444129;ENST00000421138	T;T	0.17370	2.28;2.28	4.8	4.8	0.61643	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.64193	0.2576	H	0.99794	4.785	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.82145	-0.0602	10	0.87932	D	0	-4.2972	14.8094	0.69982	0.0:0.0:0.0:1.0	.	254	P46063	RECQ1_HUMAN	A	254	ENSP00000416739:T254A;ENSP00000395449:T254A	ENSP00000395449:T254A	T	-	1	0	RECQL	21522111	1.000000	0.71417	0.933000	0.37362	0.004000	0.04260	7.576000	0.82467	2.144000	0.66660	0.528000	0.53228	ACT		0.368	RECQL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402371.1	NM_002907		33	60	0	0	0	1	0	33	60					C	21630844	T	C	21630844	3	2	146	1	0	0	0	0	1	0	0	0	13201	1667	58	4	1225	4	RECQL	12	21630844	Missense_Mutation	SNP	T	TCGA-FC-A6HD-01A-11D-A31L-08	10291753	21630844	112221051	28	7259											
MYL6B	140465	broad.mit.edu	37	chr12	56548975	56548975	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aaggtcctggggaaccccaaGagtgatggtgaggggaccct	10	6	16	9	0	0	3	0	2	0	1	1	5	1	5	4	6	1	0	4	6	3	0			TCGA-FC-A6HD-01A-11D-A31L-08	TCGA-FC-A6HD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b784d464-ed48-4b7e-ae31-b3fe20d63594	955bd0b6-b0f9-4092-9509-d09a7c632fd1	g.chr12:56548975G>C	ENST00000553066.1	+	4	761	c.339G>C	c.(337-339)aaG>aaC	p.K113N	MYL6B_ENST00000552568.1_Missense_Mutation_p.K113N|MYL6_ENST00000550697.1_5'Flank|RP11-603J24.14_ENST00000548731.1_RNA|MYL6B_ENST00000550152.1_3'UTR|MYL6B_ENST00000550443.1_Missense_Mutation_p.K113N|MYL6B_ENST00000207437.5_Missense_Mutation_p.K113N			P14649	MYL6B_HUMAN	myosin, light chain 6B, alkali, smooth muscle and non-muscle	113					metabolic process (GO:0008152)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|skeletal muscle tissue development (GO:0007519)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myosin complex (GO:0016459)|unconventional myosin complex (GO:0016461)	calcium ion binding (GO:0005509)|motor activity (GO:0003774)|structural constituent of muscle (GO:0008307)			endometrium(2)|kidney(1)|large_intestine(4)	7			OV - Ovarian serous cystadenocarcinoma(18;0.0979)			GGAACCCCAAGAGTGATGGTG	0.522																																						ENST00000553066.1																			0				endometrium(2)|kidney(1)|large_intestine(4)	7						c.(337-339)aaG>aaC		myosin, light chain 6B, alkali, smooth muscle and non-muscle							72	78	76					12																	56548975		2203	4300	6503	SO:0001583	missense	140465				muscle filament sliding|skeletal muscle tissue development	cytosol|muscle myosin complex|unconventional myosin complex	calcium ion binding|motor activity|protein binding|structural constituent of muscle	g.chr12:56548975G>C	M31211	CCDS8905.1	12q13.2	2013-01-10	2006-09-29			ENSG00000196465		"Myosins / Light chain", "EF-hand domain containing"	29823	protein-coding gene	gene with protein product	"myosin light chain 1 slow a"	609930	"myosin, light polypeptide 6B, alkali, smooth muscle and non-muscle"			2602161, 2304459	Standard	NM_002475		Approved	MLC1SA	uc001sjs.3	P14649		ENST00000553066.1:c.339G>C	12.37:g.56548975G>C	ENSP00000450385:p.Lys113Asn					MYL6B_ENST00000550443.1_Missense_Mutation_p.K113N|MYL6B_ENST00000552568.1_Missense_Mutation_p.K113N|MYL6B_ENST00000207437.5_Missense_Mutation_p.K113N|RP11-603J24.14_ENST00000548731.1_RNA|MYL6B_ENST00000550152.1_3'UTR	p.K113N			P14649	MYL6B_HUMAN	OV - Ovarian serous cystadenocarcinoma(18;0.0979)		4	761	+			113						Missense_Mutation	SNP	ENST00000553066.1	37	c.339G>C	CCDS8905.1	.	.	.	.	.	.	.	.	.	.	G	13.31	2.198573	0.38806	.	.	ENSG00000196465	ENST00000553066;ENST00000550443;ENST00000207437;ENST00000552568	T;T;T;T	0.79454	-1.27;-1.27;-1.27;-1.27	4.28	0.541	0.17168	EF-hand-like domain (1);	0.155077	0.56097	D	0.000032	D	0.85762	0.5772	M	0.88640	2.97	0.44439	D	0.997361	B;D	0.65815	0.113;0.995	B;P	0.61874	0.103;0.895	D	0.84005	0.0345	10	0.52906	T	0.07	-20.1875	8.8779	0.35356	0.3118:0.0:0.6882:0.0	.	113;113	B4E368;P14649	.;MYL6B_HUMAN	N	113	ENSP00000450385:K113N;ENSP00000446643:K113N;ENSP00000207437:K113N;ENSP00000446965:K113N	ENSP00000207437:K113N	K	+	3	2	MYL6B	54835242	0.047000	0.20315	0.999000	0.59377	0.983000	0.72400	0.254000	0.18314	0.112000	0.17975	0.484000	0.47621	AAG		0.522	MYL6B-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407920.2	NM_002475		5	109	0	0	0	1	0	5	109					C	56548975	G	C	56548975	3	2	146	1	0	0	0	0	1	0	0	0	10052	933	33	5	349	5	MYL6B	12	56548975	Missense_Mutation	SNP	G	TCGA-FC-A6HD-01A-11D-A31L-08	34918131	56548975	77302920	29	7260											
RASAL1	8437	broad.mit.edu	37	chr12	113539707	113539707	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacccacctgagctggtcccGccccaggagcagctgccgat	7	5	11	18	2	0	1	0	1	0	0	1	3	1	2	6	2	4	3	6	2	0	0			TCGA-FC-A6HD-01A-11D-A31L-08	TCGA-FC-A6HD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b784d464-ed48-4b7e-ae31-b3fe20d63594	955bd0b6-b0f9-4092-9509-d09a7c632fd1	g.chr12:113539707G>A	ENST00000261729.5	-	20	2524	c.2209C>T	c.(2209-2211)Cgg>Tgg	p.R737W	RASAL1_ENST00000446861.3_Missense_Mutation_p.R709W|RASAL1_ENST00000546530.1_Missense_Mutation_p.R739W|RASAL1_ENST00000548055.1_Missense_Mutation_p.R738W|RASAL1_ENST00000418411.2_5'Flank			O95294	RASL1_HUMAN	RAS protein activator like 1 (GAP1 like)	737					intracellular signal transduction (GO:0035556)|negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	metal ion binding (GO:0046872)|phospholipid binding (GO:0005543)|Ras GTPase activator activity (GO:0005099)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(3)|prostate(2)|skin(2)	43						AGCTGGTCCCGCCCCAGGAGC	0.627																																						ENST00000546530.1																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(3)|prostate(2)|skin(2)	43						c.(2215-2217)Cgg>Tgg		RAS protein activator like 1 (GAP1 like)							50	44	46					12																	113539707		2203	4300	6503	SO:0001583	missense	8437				intracellular signal transduction|negative regulation of Ras protein signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	metal ion binding|phospholipid binding|Ras GTPase activator activity	g.chr12:113539707G>A	AF086713	CCDS9165.1, CCDS55888.1, CCDS55889.1, CCDS73529.1	12q23-q24	2013-01-10			ENSG00000111344	ENSG00000111344		"Pleckstrin homology (PH) domain containing"	9873	protein-coding gene	gene with protein product		604118				9751798	Standard	NM_001193520		Approved	RASAL	uc001tul.3	O95294	OTTHUMG00000169705	ENST00000261729.5:c.2209C>T	12.37:g.113539707G>A	ENSP00000261729:p.Arg737Trp					RASAL1_ENST00000548055.1_Missense_Mutation_p.R738W|RASAL1_ENST00000261729.5_Missense_Mutation_p.R737W|RASAL1_ENST00000446861.3_Missense_Mutation_p.R709W	p.R739W	NM_001193520.1|NM_004658.2	NP_001180449.1|NP_004649.2	O95294	RASL1_HUMAN			20	2500	-			737					B7ZKM4|C9JFK5|F8VQX1|Q52M03|Q59H24|Q96CC7	Missense_Mutation	SNP	ENST00000261729.5	37	c.2215C>T	CCDS9165.1	.	.	.	.	.	.	.	.	.	.	g	19.80	3.895478	0.72639	.	.	ENSG00000111344	ENST00000546530;ENST00000261729;ENST00000446861;ENST00000548055	T;T;T;T	0.70399	-0.47;-0.39;-0.48;-0.47	5.16	4.19	0.49359	.	0.196943	0.41712	D	0.000840	T	0.76521	0.3999	M	0.70275	2.135	0.30704	N	0.750018	D;D;D;D	0.71674	0.996;0.998;0.992;0.998	P;P;P;P	0.55824	0.721;0.785;0.614;0.702	T	0.76296	-0.3011	10	0.46703	T	0.11	.	10.0546	0.42237	0.0:0.0:0.6026:0.3974	.	738;739;737;709	F8VRH9;F8VQX1;O95294;O95294-2	.;.;RASL1_HUMAN;.	W	739;737;709;738	ENSP00000450244:R739W;ENSP00000261729:R737W;ENSP00000395920:R709W;ENSP00000448510:R738W	ENSP00000261729:R737W	R	-	1	2	RASAL1	112024090	0.875000	0.30112	1.000000	0.80357	0.989000	0.77384	1.172000	0.31908	2.393000	0.81446	0.556000	0.70494	CGG		0.627	RASAL1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000405522.2	NM_004658		8	69	0	0	0	1	0	8	69					A	113539707	G	A	113539707	3	1	146	1	0	0	0	0	1	0	0	0	13063	1086	38	1	217	1	RASAL1	12	113539707	Missense_Mutation	SNP	G	TCGA-FC-A6HD-01A-11D-A31L-08	56990732	113539707	20312188	30	7261											
WSB2	55884	broad.mit.edu	37	chr12	118474220	118474220	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	taagaagccgtgacaagcagGgcagagtcgggggagaagtc	13	4	17	7	2	0	4	0	1	0	3	2	5	0	4	1	3	2	2	1	3	4	1			TCGA-FC-A6HD-01A-11D-A31L-08	TCGA-FC-A6HD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b784d464-ed48-4b7e-ae31-b3fe20d63594	955bd0b6-b0f9-4092-9509-d09a7c632fd1	g.chr12:118474220G>C	ENST00000315436.3	-	6	897	c.756C>G	c.(754-756)gcC>gcG	p.A252A	WSB2_ENST00000536738.1_5'UTR|WSB2_ENST00000441406.2_Silent_p.A269A|WSB2_ENST00000544233.1_Silent_p.A42A|WSB2_ENST00000535496.1_Silent_p.A254A|WSB2_ENST00000542304.1_Silent_p.A27A	NM_001278557.1|NM_018639.3	NP_001265486.1|NP_061109.1	Q9NYS7	WSB2_HUMAN	WD repeat and SOCS box containing 2	252					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)					breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	17	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TGACAAGCAGGGCAGAGTCGG	0.517																																						ENST00000315436.3																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	17						c.(754-756)gcC>gcG		WD repeat and SOCS box containing 2							164	148	154					12																	118474220		2203	4300	6503	SO:0001819	synonymous_variant	55884				intracellular signal transduction			g.chr12:118474220G>C	AF038187	CCDS9186.1, CCDS61251.1, CCDS61252.1	12q24.23	2013-01-09	2011-01-25		ENSG00000176871	ENSG00000176871		"WD repeat domain containing"	19222	protein-coding gene	gene with protein product			"WD repeat and SOCS box-containing 2"			12076535	Standard	NM_018639		Approved	SBA2, MGC10210	uc001twr.2	Q9NYS7	OTTHUMG00000168885	ENST00000315436.3:c.756C>G	12.37:g.118474220G>C						WSB2_ENST00000536738.1_5'UTR|WSB2_ENST00000544233.1_Silent_p.A42A|WSB2_ENST00000535496.1_Silent_p.A254A|WSB2_ENST00000542304.1_Silent_p.A27A|WSB2_ENST00000441406.2_Silent_p.A269A	p.A252A	NM_001278557.1|NM_018639.3	NP_001265486.1|NP_061109.1	Q9NYS7	WSB2_HUMAN			6	897	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		252					B4DIE6|B4DPV6|Q9NRX9	Silent	SNP	ENST00000315436.3	37	c.756C>G	CCDS9186.1																																																																																				0.517	WSB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401515.1	NM_018639		28	123	0	0	0	1	0	28	123					C	118474220	G	C	118474220	2	2	146	1	0	0	0	0	0	0	0	1	17402	1219	43	5		5	WSB2	12	118474220	Silent	SNP	G	TCGA-FC-A6HD-01A-11D-A31L-08	4934513	118474220	15377675	31	7262											
MYCBP2	23077	broad.mit.edu	37	chr13	77765887	77765887	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tcctgacactcgggcccatgCcacataccaccacccagctt	9	7	6	19	1	0	1	0	1	0	0	2	1	1	1	6	1	3	1	6	1	1	2			TCGA-FC-A6HD-01A-11D-A31L-08	TCGA-FC-A6HD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b784d464-ed48-4b7e-ae31-b3fe20d63594	955bd0b6-b0f9-4092-9509-d09a7c632fd1	g.chr13:77765887C>T	ENST00000544440.2	-	28	3900	c.3883G>A	c.(3883-3885)Gca>Aca	p.A1295T	MYCBP2_ENST00000360084.5_5'UTR|MYCBP2_ENST00000357337.6_Missense_Mutation_p.A1295T|MYCBP2_ENST00000407578.2_Missense_Mutation_p.A1333T					MYC binding protein 2, E3 ubiquitin protein ligase											NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		CGGGCCCATGCCACATACCAC	0.428																																						ENST00000407578.2																			0				NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118						c.(3997-3999)Gca>Aca		MYC binding protein 2, E3 ubiquitin protein ligase							93	77	82					13																	77765887		2203	4300	6503	SO:0001583	missense	23077				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding	g.chr13:77765887C>T	AB020723		13q22	2012-02-23	2012-02-23		ENSG00000005810	ENSG00000005810			23386	protein-coding gene	gene with protein product		610392	"MYC binding protein 2"			9689053, 15057823	Standard	NM_015057		Approved	PAM, KIAA0916, FLJ10106	uc021rks.1	O75592	OTTHUMG00000017105	ENST00000544440.2:c.3883G>A	13.37:g.77765887C>T	ENSP00000444596:p.Ala1295Thr					MYCBP2_ENST00000544440.2_Missense_Mutation_p.A1295T|MYCBP2_ENST00000357337.6_Missense_Mutation_p.A1295T|MYCBP2_ENST00000360084.5_5'UTR	p.A1333T	NM_015057.4	NP_055872.4	O75592	MYCB2_HUMAN		GBM - Glioblastoma multiforme(99;0.109)	28	4263	-		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)	1295						Missense_Mutation	SNP	ENST00000544440.2	37	c.3997G>A		.	.	.	.	.	.	.	.	.	.	C	35	5.583342	0.96578	.	.	ENSG00000005810	ENST00000357337;ENST00000407578;ENST00000544440	T;T;T	0.38077	1.17;1.16;1.17	5.55	5.55	0.83447	PHR (1);	0.000000	0.85682	D	0.000000	T	0.65015	0.2651	M	0.79926	2.475	0.80722	D	1	D	0.71674	0.998	D	0.77557	0.99	T	0.67393	-0.5682	10	0.66056	D	0.02	.	19.8764	0.96873	0.0:1.0:0.0:0.0	.	1295	O75592	MYCB2_HUMAN	T	1295;1333;1295	ENSP00000349892:A1295T;ENSP00000384288:A1333T;ENSP00000444596:A1295T	ENSP00000349892:A1295T	A	-	1	0	MYCBP2	76663888	1.000000	0.71417	0.664000	0.29753	0.953000	0.61014	7.445000	0.80570	2.768000	0.95171	0.655000	0.94253	GCA		0.428	MYCBP2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000045326.1	NM_015057		3	28	0	0	0	1	0	3	28					T	77765887	C	T	77765887	3	4	146	1	0	0	0	0	1	0	0	0	10018	739	26	3	10263	3	MYCBP2	13	77765887	Missense_Mutation	SNP	C	TCGA-FC-A6HD-01A-11D-A31L-08		77765887	37403991	32	7263											
NYNRIN	57523	broad.mit.edu	37	chr14	24880387	24880387	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtgtttgtacccacctggcaGctgaagaagaaccggagggt	10	8	14	9	1	0	3	0	1	0	2	0	4	0	4	3	3	3	4	3	3	4	2			TCGA-FC-A6HD-01A-11D-A31L-08	TCGA-FC-A6HD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b784d464-ed48-4b7e-ae31-b3fe20d63594	955bd0b6-b0f9-4092-9509-d09a7c632fd1	g.chr14:24880387G>A	ENST00000382554.3	+	5	2838	c.2520G>A	c.(2518-2520)caG>caA	p.Q840Q		NM_025081.2	NP_079357.2	Q9P2P1	NYNRI_HUMAN	NYN domain and retroviral integrase containing	840					DNA integration (GO:0015074)	integral component of membrane (GO:0016021)	nucleic acid binding (GO:0003676)			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						CCACCTGGCAGCTGAAGAAGA	0.592											OREG0022626	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000382554.3																			0				breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						c.(2518-2520)caG>caA		NYN domain and retroviral integrase containing							109	121	117					14																	24880387		2068	4205	6273	SO:0001819	synonymous_variant	57523				DNA integration	integral to membrane	DNA binding	g.chr14:24880387G>A	AB037726	CCDS45090.1	14q11.2	2009-10-14	2009-10-14	2009-10-14		ENSG00000205978			20165	protein-coding gene	gene with protein product	"Cousin of GIN1"		"KIAA1305"	KIAA1305		19561090, 17114934	Standard	NM_025081		Approved	FLJ11811, CGIN1	uc001wpf.4	Q9P2P1		ENST00000382554.3:c.2520G>A	14.37:g.24880387G>A			OREG0022626	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	774		p.Q840Q	NM_025081.2	NP_079357.2	Q9P2P1	NYNRI_HUMAN			5	2838	+			840					Q6P153|Q86TR3|Q9HAC4	Silent	SNP	ENST00000382554.3	37	c.2520G>A	CCDS45090.1																																																																																				0.592	NYNRIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412939.1			4	135	0	0	0	1	0	4	135					A	24880387	G	A	24880387	2	1	146	1	0	0	0	0	0	0	0	1	10796	962	34	3		3	NYNRIN	14	24880387	Silent	SNP	G	TCGA-FC-A6HD-01A-11D-A31L-08		24880387	82469153	33	7264											
PTGDR	5729	broad.mit.edu	37	chr14	52735165	52735165	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	agcctcatggcgctgctggtCctcgccaccgtgctgtgcaa	5	9	12	15	3	1	0	1	0	0	0	3	0	2	0	4	2	4	4	4	2	1	0			TCGA-FC-A6HD-01A-11D-A31L-08	TCGA-FC-A6HD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b784d464-ed48-4b7e-ae31-b3fe20d63594	955bd0b6-b0f9-4092-9509-d09a7c632fd1	g.chr14:52735165C>T	ENST00000306051.2	+	1	735	c.633C>T	c.(631-633)gtC>gtT	p.V211V	PTGDR_ENST00000553372.1_Silent_p.V211V	NM_000953.2	NP_000944.1	Q13258	PD2R_HUMAN	prostaglandin D2 receptor (DP)	211					adenosine metabolic process (GO:0046085)|cellular response to prostaglandin D stimulus (GO:0071799)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|male sex determination (GO:0030238)|sleep (GO:0030431)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	prostaglandin D receptor activity (GO:0004956)|prostaglandin J receptor activity (GO:0001785)			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Breast(41;0.0639)|all_epithelial(31;0.0887)				Nedocromil(DB00716)	CGCTGCTGGTCCTCGCCACCG	0.677																																						ENST00000306051.2																			0				breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						c.(631-633)gtC>gtT		prostaglandin D2 receptor (DP)	Nedocromil(DB00716)						78	63	68					14																	52735165		2203	4300	6503	SO:0001819	synonymous_variant	5729					integral to membrane|plasma membrane	prostaglandin D receptor activity|protein binding	g.chr14:52735165C>T	U31332	CCDS9707.1, CCDS61454.1	14q22.1	2012-08-08			ENSG00000168229	ENSG00000168229		"GPCR / Class A : Prostanoid receptors"	9591	protein-coding gene	gene with protein product		604687				7642548	Standard	NM_000953		Approved	DP, DP1, PTGDR1	uc001wzq.3	Q13258	OTTHUMG00000140299	ENST00000306051.2:c.633C>T	14.37:g.52735165C>T						PTGDR_ENST00000553372.1_Silent_p.V211V	p.V211V	NM_000953.2	NP_000944.1	Q13258	PD2R_HUMAN			1	735	+	Breast(41;0.0639)|all_epithelial(31;0.0887)		211					G3V5L3|Q13250|Q13251|Q1ZZ52	Silent	SNP	ENST00000306051.2	37	c.633C>T	CCDS9707.1																																																																																				0.677	PTGDR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276889.1	NM_000953		37	56	0	0	0	1	0	37	56					T	52735165	C	T	52735165	2	4	146	1	0	0	0	0	0	0	0	1	12741	842	30	3		3	PTGDR	14	52735165	Silent	SNP	C	TCGA-FC-A6HD-01A-11D-A31L-08	27854778	52735165	54614375	34	7265											
AGBL1	123624	broad.mit.edu	37	chr15	87066160	87066160	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccacctgagcagcattggccGaagtcccgtggtgagtcact	8	8	12	13	2	1	2	1	2	0	0	2	3	2	2	4	2	2	2	4	2	1	1			TCGA-FC-A6HD-01A-11D-A31L-08	TCGA-FC-A6HD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b784d464-ed48-4b7e-ae31-b3fe20d63594	955bd0b6-b0f9-4092-9509-d09a7c632fd1	g.chr15:87066160G>A	ENST00000441037.2	+	18	2632	c.2537G>A	c.(2536-2538)cGa>cAa	p.R846Q	AGBL1_ENST00000389298.3_Missense_Mutation_p.R577Q|AGBL1_ENST00000421325.2_Missense_Mutation_p.R846Q	NM_152336.2	NP_689549.2	Q96MI9	CBPC4_HUMAN	ATP/GTP binding protein-like 1	846					C-terminal protein deglutamylation (GO:0035609)|protein side chain deglutamylation (GO:0035610)	cytoplasm (GO:0005737)	metallocarboxypeptidase activity (GO:0004181)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)			NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	62						AGCATTGGCCGAAGTCCCGTG	0.522																																						ENST00000441037.2																			0				NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	62						c.(2536-2538)cGa>cAa		ATP/GTP binding protein-like 1							183	178	179					15																	87066160		2051	4208	6259	SO:0001583	missense	123624				C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis	cytosol	metallocarboxypeptidase activity|tubulin binding|zinc ion binding	g.chr15:87066160G>A	AK056872	CCDS58398.1	15q25.3	2014-06-23			ENSG00000166748	ENSG00000166748			26504	protein-coding gene	gene with protein product	"cytosolic carboxypeptidase 4"	615496				21074048, 24094747	Standard	NM_152336		Approved	FLJ32310, CCP4	uc002blz.1	Q96MI9	OTTHUMG00000149978	ENST00000441037.2:c.2537G>A	15.37:g.87066160G>A	ENSP00000413001:p.Arg846Gln					AGBL1_ENST00000421325.2_Missense_Mutation_p.R846Q|AGBL1_ENST00000389298.3_Missense_Mutation_p.R577Q	p.R846Q	NM_152336.2	NP_689549.2	Q96MI9	CBPC4_HUMAN			18	2632	+			846					A1A4X5|A6NJH6|C9JHL5	Missense_Mutation	SNP	ENST00000441037.2	37	c.2537G>A	CCDS58398.1	.	.	.	.	.	.	.	.	.	.	G	17.88	3.497497	0.64186	.	.	ENSG00000166748	ENST00000441037;ENST00000421325;ENST00000389298	T;T	0.11063	2.81;2.81	5.93	3.05	0.35203	Peptidase M14, carboxypeptidase A (1);	0.110670	0.33382	U	0.004974	T	0.18173	0.0436	L	0.60845	1.875	0.21652	N	0.999604	D	0.64830	0.994	P	0.55785	0.784	T	0.07252	-1.0782	10	0.72032	D	0.01	-6.4693	5.4182	0.16386	0.2144:0.0:0.6437:0.1419	.	846	Q96MI9	CBPC4_HUMAN	Q	875;846;577	ENSP00000397173:R846Q;ENSP00000373949:R577Q	ENSP00000373949:R577Q	R	+	2	0	AGBL1	84867164	0.843000	0.29541	0.406000	0.26421	0.801000	0.45260	2.828000	0.48120	0.398000	0.25338	-0.182000	0.12963	CGA		0.522	AGBL1-001	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000314929.5	NM_152336		4	195	0	0	0	1	0	4	195					A	87066160	G	A	87066160	3	1	146	1	0	0	0	0	1	0	0	0	375	1058	37	2	2603	2	AGBL1	15	87066160	Missense_Mutation	SNP	G	TCGA-FC-A6HD-01A-11D-A31L-08		87066160	15465232	35	7266											
NOS2	4843	broad.mit.edu	37	chr17	26110004	26110004	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	actggatcctcccaatgcagCgtggggcattgcgccaggcc	7	7	13	14	2	0	0	0	0	0	0	2	1	2	1	4	4	3	2	4	4	1	1			TCGA-FC-A6HD-01A-11D-A31L-08	TCGA-FC-A6HD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b784d464-ed48-4b7e-ae31-b3fe20d63594	955bd0b6-b0f9-4092-9509-d09a7c632fd1	g.chr17:26110004C>T	ENST00000313735.6	-	6	829	c.596G>A	c.(595-597)cGc>cAc	p.R199H		NM_000625.4	NP_000616.3	P35228	NOS2_HUMAN	nitric oxide synthase 2, inducible	199					arginine catabolic process (GO:0006527)|blood coagulation (GO:0007596)|cellular response to interferon-gamma (GO:0071346)|cellular response to lipopolysaccharide (GO:0071222)|circadian rhythm (GO:0007623)|defense response to bacterium (GO:0042742)|defense response to Gram-negative bacterium (GO:0050829)|inflammatory response (GO:0006954)|innate immune response in mucosa (GO:0002227)|interaction with host (GO:0051701)|negative regulation of blood pressure (GO:0045776)|negative regulation of gene expression (GO:0010629)|negative regulation of protein catabolic process (GO:0042177)|nitric oxide biosynthetic process (GO:0006809)|nitric oxide mediated signal transduction (GO:0007263)|peptidyl-cysteine S-nitrosylation (GO:0018119)|phagosome maturation (GO:0090382)|positive regulation of guanylate cyclase activity (GO:0031284)|positive regulation of killing of cells of other organism (GO:0051712)|positive regulation of leukocyte mediated cytotoxicity (GO:0001912)|positive regulation of vasodilation (GO:0045909)|regulation of cell proliferation (GO:0042127)|regulation of cellular respiration (GO:0043457)|regulation of insulin secretion (GO:0050796)|response to bacterium (GO:0009617)|response to hypoxia (GO:0001666)|superoxide metabolic process (GO:0006801)	cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular (GO:0005622)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|peroxisome (GO:0005777)	arginine binding (GO:0034618)|flavin adenine dinucleotide binding (GO:0050660)|FMN binding (GO:0010181)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|NADP binding (GO:0050661)|NADPH-hemoprotein reductase activity (GO:0003958)|nitric-oxide synthase activity (GO:0004517)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|tetrahydrobiopterin binding (GO:0034617)			autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(28)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	56					Dexamethasone(DB01234)|Doxorubicin(DB00997)|L-Arginine(DB00125)|L-Citrulline(DB00155)|Miconazole(DB01110)|Triflusal(DB08814)	CCCAATGCAGCGTGGGGCATT	0.577																																						ENST00000313735.6																			0				autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(28)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	56						c.(595-597)cGc>cAc		nitric oxide synthase 2, inducible	Dexamethasone(DB01234)|Hydrocortisone(DB00741)|L-Arginine(DB00125)|L-Citrulline(DB00155)						192	139	157					17																	26110004		2203	4300	6503	SO:0001583	missense	4843				arginine catabolic process|defense response to Gram-negative bacterium|innate immune response in mucosa|nitric oxide biosynthetic process|peptidyl-cysteine S-nitrosylation|platelet activation|positive regulation of killing of cells of other organism|positive regulation of leukocyte mediated cytotoxicity|regulation of cellular respiration|regulation of insulin secretion|superoxide metabolic process	cytosol|nucleus	arginine binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|protein homodimerization activity|tetrahydrobiopterin binding	g.chr17:26110004C>T	U20141	CCDS11223.1	17q11.2	2014-06-12	2008-09-16	2008-09-16	ENSG00000007171	ENSG00000007171	1.14.13.39		7873	protein-coding gene	gene with protein product		163730	"nitric oxide synthase 2A (inducible, hepatocytes)"	NOS2A		7682706	Standard	NM_000625		Approved	iNOS, NOS, HEP-NOS	uc002gzu.3	P35228	OTTHUMG00000132445	ENST00000313735.6:c.596G>A	17.37:g.26110004C>T	ENSP00000327251:p.Arg199His						p.R199H	NM_000625.4	NP_000616.3	P35228	NOS2_HUMAN			6	829	-			199					A1L3U5|B7ZLY2|O60757|O94994|Q16263|Q16692|Q4TTS5|Q9UD42	Missense_Mutation	SNP	ENST00000313735.6	37	c.596G>A	CCDS11223.1	.	.	.	.	.	.	.	.	.	.	C	26.2	4.716386	0.89205	.	.	ENSG00000007171	ENST00000313735;ENST00000379105;ENST00000302153	T	0.31247	1.5	5.62	5.62	0.85841	Nitric oxide synthase, oxygenase domain (4);	0.000000	0.64402	D	0.000001	T	0.68109	0.2965	H	0.94847	3.59	0.58432	D	0.999999	D;D	0.89917	0.999;1.0	P;D	0.72982	0.879;0.979	T	0.77616	-0.2521	10	0.87932	D	0	.	18.6591	0.91465	0.0:1.0:0.0:0.0	.	199;199	F8WEM3;P35228	.;NOS2_HUMAN	H	199	ENSP00000327251:R199H	ENSP00000305638:R199H	R	-	2	0	NOS2	23134131	1.000000	0.71417	1.000000	0.80357	0.499000	0.33736	7.751000	0.85126	2.664000	0.90586	0.603000	0.83216	CGC		0.577	NOS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255597.1	NM_000625		5	71	0	0	0	1	0	5	71					T	26110004	C	T	26110004	3	4	146	1	0	0	0	0	1	0	0	0	10543	768	27	1	2953	1	NOS2	17	26110004	Missense_Mutation	SNP	C	TCGA-FC-A6HD-01A-11D-A31L-08		26110004	55085206	36	7267											
JUP	3728	broad.mit.edu	37	chr17	39912083	39912083	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagtctccatccatgtccatGtgcatctccagcgggtcaag	8	11	9	13	1	3	0	1	0	2	0	7	0	5	0	4	1	2	1	4	1	2	1			TCGA-FC-A6HD-01A-11D-A31L-08	TCGA-FC-A6HD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b784d464-ed48-4b7e-ae31-b3fe20d63594	955bd0b6-b0f9-4092-9509-d09a7c632fd1	g.chr17:39912083G>A	ENST00000393931.3	-	14	2269	c.2151C>T	c.(2149-2151)caC>caT	p.H717H	JUP_ENST00000393930.1_Silent_p.H717H|JUP_ENST00000310706.5_Silent_p.H717H|JUP_ENST00000540235.1_Intron	NM_002230.2	NP_002221.1	P14923	PLAK_HUMAN	junction plakoglobin	717					adherens junction organization (GO:0034332)|atrioventricular valve morphogenesis (GO:0003181)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cell junction assembly (GO:0034329)|cell migration (GO:0016477)|cell morphogenesis (GO:0000902)|cell-cell junction organization (GO:0045216)|cellular response to indole-3-methanol (GO:0071681)|cytoskeletal anchoring at plasma membrane (GO:0007016)|desmosome assembly (GO:0002159)|detection of mechanical stimulus (GO:0050982)|ectoderm development (GO:0007398)|endothelial cell-cell adhesion (GO:0071603)|establishment of protein localization to plasma membrane (GO:0090002)|gastrulation (GO:0007369)|morphogenesis of embryonic epithelium (GO:0016331)|negative regulation of heart induction by canonical Wnt signaling pathway (GO:0003136)|negative regulation of Wnt signaling pathway involved in heart development (GO:0003308)|nervous system development (GO:0007399)|oocyte development (GO:0048599)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein heterooligomerization (GO:0051291)|regulation of cell proliferation (GO:0042127)|regulation of heart rate by cardiac conduction (GO:0086091)|single organismal cell-cell adhesion (GO:0016337)|skin development (GO:0043588)|ventricular cardiac muscle cell action potential (GO:0086005)	actin cytoskeleton (GO:0015629)|apicolateral plasma membrane (GO:0016327)|basolateral plasma membrane (GO:0016323)|catenin complex (GO:0016342)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|gamma-catenin-TCF7L2 complex (GO:0071665)|intercalated disc (GO:0014704)|intermediate filament (GO:0005882)|lateral plasma membrane (GO:0016328)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein-DNA complex (GO:0032993)|Z disc (GO:0030018)|zonula adherens (GO:0005915)	alpha-catenin binding (GO:0045294)|cadherin binding (GO:0045296)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|structural constituent of cell wall (GO:0005199)|structural molecule activity (GO:0005198)|transcription coactivator activity (GO:0003713)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)	23		Breast(137;0.000162)	BRCA - Breast invasive adenocarcinoma(4;0.233)	BRCA - Breast invasive adenocarcinoma(366;0.15)		CCATGTCCATGTGCATCTCCA	0.637																																					Colon(16;42 520 6044 17852 28530)	ENST00000393931.3																			0				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)	23						c.(2149-2151)caC>caT		junction plakoglobin							93	84	87					17																	39912083		2203	4300	6503	SO:0001819	synonymous_variant	3728				adherens junction organization|atrioventricular valve morphogenesis|cell migration|cell morphogenesis|cellular response to indole-3-methanol|cytoskeletal anchoring at plasma membrane|detection of mechanical stimulus|ectoderm development|endothelial cell-cell adhesion|gastrulation|morphogenesis of embryonic epithelium|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of Wnt receptor signaling pathway involved in heart development|nervous system development|oocyte development|positive regulation of protein import into nucleus|positive regulation of sequence-specific DNA binding transcription factor activity|skin development	actin cytoskeleton|Axin-APC-beta-catenin-GSK3B complex|basolateral plasma membrane|catenin complex|desmosome|fascia adherens|gamma-catenin-TCF7L2 complex|internal side of plasma membrane|nucleus|protein-DNA complex|Z disc|zonula adherens	alpha-catenin binding|cadherin binding|protein homodimerization activity|protein kinase binding|protein phosphatase binding|RPTP-like protein binding|specific RNA polymerase II transcription factor activity|transcription coactivator activity	g.chr17:39912083G>A	AF233882	CCDS11407.1	17q21	2014-09-17	2004-08-09		ENSG00000173801	ENSG00000173801		"Armadillo repeat containing"	6207	protein-coding gene	gene with protein product		173325	"catenin (cadherin-associated protein), gamma 80kDa"	CTNNG		1889810, 7604000	Standard	NM_021991		Approved	DP3, PDGB, PKGB, DPIII	uc002hxs.2	P14923	OTTHUMG00000133494	ENST00000393931.3:c.2151C>T	17.37:g.39912083G>A						JUP_ENST00000540235.1_Intron|JUP_ENST00000393930.1_Silent_p.H717H|JUP_ENST00000310706.5_Silent_p.H717H	p.H717H	NM_002230.2	NP_002221.1	P14923	PLAK_HUMAN	BRCA - Breast invasive adenocarcinoma(4;0.233)	BRCA - Breast invasive adenocarcinoma(366;0.15)	14	2269	-		Breast(137;0.000162)	717					Q15093|Q15151|Q7L3S5|Q86W21|Q9BWC4|Q9HCX9	Silent	SNP	ENST00000393931.3	37	c.2151C>T	CCDS11407.1																																																																																				0.637	JUP-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257406.1			17	21	0	0	0	1	0	17	21					A	39912083	G	A	39912083	2	1	146	1	0	0	0	0	0	0	0	1	7972	1368	48	3		3	JUP	17	39912083	Silent	SNP	G	TCGA-FC-A6HD-01A-11D-A31L-08	13802079	39912083	41283127	37	7268											
MED13	9969	broad.mit.edu	37	chr17	60062197	60062197	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttgttccaatgatggtggtgTaggatacattttatgaagat	11	16	11	3	0	0	3	0	2	0	1	1	4	1	4	1	3	1	2	1	3	5	6			TCGA-FC-A6HD-01A-11D-A31L-08	TCGA-FC-A6HD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b784d464-ed48-4b7e-ae31-b3fe20d63594	955bd0b6-b0f9-4092-9509-d09a7c632fd1	g.chr17:60062197T>C	ENST00000397786.2	-	14	2582	c.2506A>G	c.(2506-2508)Aca>Gca	p.T836A		NM_005121.2	NP_005112.2	Q9UHV7	MED13_HUMAN	mediator complex subunit 13	836					androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|receptor activity (GO:0004872)|RNA polymerase II transcription cofactor activity (GO:0001104)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			breast(4)|central_nervous_system(1)|endometrium(10)|kidney(24)|large_intestine(15)|liver(1)|lung(20)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						GATGGTGGTGTAGGATACATT	0.323																																						ENST00000397786.2																			0				breast(4)|central_nervous_system(1)|endometrium(10)|kidney(24)|large_intestine(15)|liver(1)|lung(20)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						c.(2506-2508)Aca>Gca		mediator complex subunit 13							68	60	63					17																	60062197		1815	4068	5883	SO:0001583	missense	9969				androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	g.chr17:60062197T>C	AB011165	CCDS42366.1	17q22-q23	2007-07-30	2007-07-30	2007-07-30		ENSG00000108510			22474	protein-coding gene	gene with protein product		603808	"thyroid hormone receptor associated protein 1"	THRAP1		1019863	Standard	NM_005121		Approved	KIAA0593, TRAP240	uc002izo.3	Q9UHV7		ENST00000397786.2:c.2506A>G	17.37:g.60062197T>C	ENSP00000380888:p.Thr836Ala						p.T836A	NM_005121.2	NP_005112.2	Q9UHV7	MED13_HUMAN			14	2582	-			836					B2RU05|O60334	Missense_Mutation	SNP	ENST00000397786.2	37	c.2506A>G	CCDS42366.1	.	.	.	.	.	.	.	.	.	.	T	23.7	4.442896	0.83993	.	.	ENSG00000108510	ENST00000397786;ENST00000262436	D	0.89875	-2.58	6.16	6.16	0.99307	.	0.000000	0.85682	D	0.000000	D	0.94709	0.8293	M	0.84082	2.675	0.80722	D	1	D	0.64830	0.994	D	0.70716	0.97	D	0.94936	0.8087	10	0.62326	D	0.03	-29.6291	16.8061	0.85666	0.0:0.0:0.0:1.0	.	836	Q9UHV7	MED13_HUMAN	A	836;835	ENSP00000380888:T836A	ENSP00000262436:T835A	T	-	1	0	MED13	57416979	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.698000	0.84413	2.367000	0.80283	0.528000	0.53228	ACA		0.323	MED13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445461.1	NM_005121		7	15	0	0	0	1	0	7	15					C	60062197	T	C	60062197	3	2	146	1	0	0	0	0	1	0	0	0	9430	1638	57	4	4086	4	MED13	17	60062197	Missense_Mutation	SNP	T	TCGA-FC-A6HD-01A-11D-A31L-08	20150114	60062197	21133013	38	7269											
TSEN54	283989	broad.mit.edu	37	chr17	73518111	73518111	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccgccacacccttctgcgcGccccagccccagagctgctc	5	5	9	22	3	1	1	0	0	1	1	2	1	1	1	7	0	4	2	7	0	0	1	rs201125812	byFrequency	TCGA-FC-A6HD-01A-11D-A31L-08	TCGA-FC-A6HD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b784d464-ed48-4b7e-ae31-b3fe20d63594	955bd0b6-b0f9-4092-9509-d09a7c632fd1	g.chr17:73518111G>T	ENST00000333213.6	+	8	985	c.949G>T	c.(949-951)Gcc>Tcc	p.A317S		NM_207346.2	NP_997229.2	Q7Z6J9	SEN54_HUMAN	TSEN54 tRNA splicing endonuclease subunit	317					mRNA processing (GO:0006397)|tRNA splicing, via endonucleolytic cleavage and ligation (GO:0006388)	nucleus (GO:0005634)				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(5)|ovary(2)	13	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;4.57e-07)|Epithelial(20;2.92e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			CCTTCTGCGCGCCCCAGCCCC	0.652													G|||	2	0.000399361	0	0	5008	,	,		15385	0.002		0	False		,,,				2504	0					ENST00000333213.6																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(5)|ovary(2)	13						c.(949-951)Gcc>Tcc		TSEN54 tRNA splicing endonuclease subunit							12	12	12					17																	73518111		2182	4280	6462	SO:0001583	missense	283989				mRNA processing|tRNA splicing, via endonucleolytic cleavage and ligation	nucleolus		g.chr17:73518111G>T	AK097583	CCDS11724.1	17q25.1	2013-08-06	2013-08-06		ENSG00000182173	ENSG00000182173		"tRNA splicing endonuclease subunits"	27561	protein-coding gene	gene with protein product		608755	"tRNA splicing endonuclease 54 homolog (SEN54, S. cerevisiae)", "tRNA splicing endonuclease 54 homolog (S. cerevisiae)"			15109492	Standard	NM_207346		Approved	SEN54, SEN54L	uc002jof.1	Q7Z6J9		ENST00000333213.6:c.949G>T	17.37:g.73518111G>T	ENSP00000327487:p.Ala317Ser						p.A317S	NM_207346.2	NP_997229.2	Q7Z6J9	SEN54_HUMAN	all cancers(21;4.57e-07)|Epithelial(20;2.92e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)		8	985	+	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		317					Q86WV3|Q86XE4|Q8N9H2	Missense_Mutation	SNP	ENST00000333213.6	37	c.949G>T	CCDS11724.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	9.996	1.232283	0.22626	.	.	ENSG00000182173	ENST00000333213	T	0.57273	0.41	5.24	5.24	0.73138	.	0.170208	0.52532	D	0.000075	T	0.43344	0.1243	L	0.49126	1.545	0.36177	D	0.849165	B	0.23735	0.09	B	0.18561	0.022	T	0.47341	-0.9125	10	0.23891	T	0.37	-8.068	9.6635	0.39969	0.0749:0.0:0.7828:0.1423	.	317	Q7Z6J9	SEN54_HUMAN	S	317	ENSP00000327487:A317S	ENSP00000327487:A317S	A	+	1	0	TSEN54	71029706	0.009000	0.17119	0.794000	0.32065	0.519000	0.34347	0.640000	0.24705	2.427000	0.82271	0.561000	0.74099	GCC		0.652	TSEN54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447618.1	NM_207346		4	6	1	0	0.00024832	1	0.00024832	4	6					T	73518111	G	T	73518111	3	4	146	1	0	0	0	0	1	0	0	0	16611	1087	38	5	979	5	TSEN54	17	73518111	Missense_Mutation	SNP	G	TCGA-FC-A6HD-01A-11D-A31L-08	13455914	73518111	7677099	39	7270											
SMAD7	4092	broad.mit.edu	37	chr18	46447811	46447811	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aactggcgggtgtagcactgGccccagcccttcacaaagct	9	7	11	14	1	1	0	1	0	0	0	1	0	1	0	3	3	4	3	3	3	3	2	rs1052572		TCGA-FC-A6HD-01A-11D-A31L-08	TCGA-FC-A6HD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b784d464-ed48-4b7e-ae31-b3fe20d63594	955bd0b6-b0f9-4092-9509-d09a7c632fd1	g.chr18:46447811G>A	ENST00000262158.2	-	4	1498	c.1212C>T	c.(1210-1212)ggC>ggT	p.G404G	SMAD7_ENST00000591805.1_Silent_p.G189G|SMAD7_ENST00000585986.1_5'Flank|SMAD7_ENST00000589634.1_Silent_p.G403G	NM_001190821.1|NM_005904.3	NP_001177750.1|NP_005895.1	O15105	SMAD7_HUMAN	SMAD family member 7	404	MH2. {ECO:0000255|PROSITE- ProRule:PRU00439}.				adherens junction assembly (GO:0034333)|artery morphogenesis (GO:0048844)|BMP signaling pathway (GO:0030509)|cellular protein complex localization (GO:0034629)|cellular response to transforming growth factor beta stimulus (GO:0071560)|gene expression (GO:0010467)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of cell migration (GO:0030336)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of pathway-restricted SMAD protein phosphorylation (GO:0060394)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription by competitive promoter binding (GO:0010944)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of ubiquitin-protein transferase activity (GO:0051444)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein stabilization (GO:0050821)|regulation of activin receptor signaling pathway (GO:0032925)|regulation of cardiac muscle contraction (GO:0055117)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|regulation of ventricular cardiac muscle cell membrane depolarization (GO:0060373)|response to laminar fluid shear stress (GO:0034616)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ureteric bud development (GO:0001657)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|transcription factor complex (GO:0005667)	activin binding (GO:0048185)|beta-catenin binding (GO:0008013)|I-SMAD binding (GO:0070411)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|transforming growth factor beta receptor, inhibitory cytoplasmic mediator activity (GO:0030617)|type I transforming growth factor beta receptor binding (GO:0034713)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)	10	Colorectal(1;0.0518)					TGTAGCACTGGCCCCAGCCCT	0.617																																						ENST00000262158.2																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)	10						c.(1210-1212)ggC>ggT		SMAD family member 7							46	44	44					18																	46447811		2203	4300	6503	SO:0001819	synonymous_variant	4092				adherens junction assembly|artery morphogenesis|BMP signaling pathway|cellular protein complex localization|negative regulation of BMP signaling pathway|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|negative regulation of pathway-restricted SMAD protein phosphorylation|negative regulation of peptidyl-serine phosphorylation|negative regulation of peptidyl-threonine phosphorylation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription by competitive promoter binding|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|negative regulation of ubiquitin-protein ligase activity|pathway-restricted SMAD protein phosphorylation|positive regulation of anti-apoptosis|positive regulation of cell-cell adhesion|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein stabilization|regulation of activin receptor signaling pathway|response to laminar fluid shear stress|transforming growth factor beta receptor signaling pathway|ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	centrosome|cytosol|nucleolus|plasma membrane|transcription factor complex	activin binding|beta-catenin binding|I-SMAD binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transforming growth factor beta receptor, inhibitory cytoplasmic mediator activity|type I transforming growth factor beta receptor binding|ubiquitin protein ligase binding	g.chr18:46447811G>A	AF010193	CCDS11936.1, CCDS54186.1, CCDS59317.1	18q21.1	2006-11-06	2006-11-06	2004-05-26	ENSG00000101665	ENSG00000101665		"SMADs"	6773	protein-coding gene	gene with protein product		602932	"MAD, mothers against decapentaplegic homolog 7 (Drosophila)", "SMAD, mothers against DPP homolog 7 (Drosophila)"	MADH8, MADH7		9256479, 9730599	Standard	NM_005904		Approved		uc002ldg.3	O15105	OTTHUMG00000132655	ENST00000262158.2:c.1212C>T	18.37:g.46447811G>A						SMAD7_ENST00000591805.1_Silent_p.G189G|SMAD7_ENST00000589634.1_Silent_p.G403G	p.G404G	NM_001190821.1|NM_005904.3	NP_001177750.1|NP_005895.1	O15105	SMAD7_HUMAN			4	1498	-	Colorectal(1;0.0518)		404			MH2.		B7Z773|K7EQ10|O14740|Q6DK23	Silent	SNP	ENST00000262158.2	37	c.1212C>T	CCDS11936.1																																																																																				0.617	SMAD7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255906.1	NM_005904		8	32	0	0	0	1	0	8	32					A	46447811	G	A	46447811	2	1	146	1	0	0	0	0	0	0	0	1	14763	1190	42	3		3	SMAD7	18	46447811	Silent	SNP	G	TCGA-FC-A6HD-01A-11D-A31L-08		46447811	31629437	40	7271											
FBN3	84467	broad.mit.edu	37	chr19	8188379	8188379	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cgttcctgggcatccagggcGaagccccccgcacaggcgca	7	4	13	17	4	0	0	0	0	0	0	2	1	2	0	5	3	1	4	5	3	1	1			TCGA-FC-A6HD-01A-11D-A31L-08	TCGA-FC-A6HD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b784d464-ed48-4b7e-ae31-b3fe20d63594	955bd0b6-b0f9-4092-9509-d09a7c632fd1	g.chr19:8188379G>A	ENST00000600128.1	-	24	3465	c.3051C>T	c.(3049-3051)ttC>ttT	p.F1017F	FBN3_ENST00000270509.2_Silent_p.F1017F|FBN3_ENST00000601739.1_Silent_p.F1017F			Q75N90	FBN3_HUMAN	fibrillin 3	1017	EGF-like 12; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.					proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						CATCCAGGGCGAAGCCCCCCG	0.597																																						ENST00000600128.1																			0				NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						c.(3049-3051)ttC>ttT		fibrillin 3							55	55	55					19																	8188379		2203	4300	6503	SO:0001819	synonymous_variant	84467					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent	g.chr19:8188379G>A		CCDS12196.1	19p13	2008-02-05							18794	protein-coding gene	gene with protein product		608529					Standard	NM_032447		Approved		uc002mjf.3	Q75N90		ENST00000600128.1:c.3051C>T	19.37:g.8188379G>A						FBN3_ENST00000601739.1_Silent_p.F1017F|FBN3_ENST00000270509.2_Silent_p.F1017F	p.F1017F			Q75N90	FBN3_HUMAN			24	3465	-			1017			EGF-like 12; calcium-binding.		Q75N91|Q75N92|Q75N93|Q86SJ5|Q96JP8	Silent	SNP	ENST00000600128.1	37	c.3051C>T	CCDS12196.1																																																																																				0.597	FBN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461428.2	NM_032447		7	25	0	0	0	1	0	7	25					A	8188379	G	A	8188379	2	1	146	1	0	0	0	0	0	0	0	1	5704	1049	37	2		2	FBN3	19	8188379	Silent	SNP	G	TCGA-FC-A6HD-01A-11D-A31L-08		8188379	50940604	41	7272											
ESF1	51575	broad.mit.edu	37	chr20	13763443	13763443	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gattagccttcttggtttctTtctttttctcaactagattt	6	22	5	8	0	4	1	1	0	4	1	5	2	4	1	1	1	2	1	1	1	3	9			TCGA-FC-A6HD-01A-11D-A31L-08	TCGA-FC-A6HD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b784d464-ed48-4b7e-ae31-b3fe20d63594	955bd0b6-b0f9-4092-9509-d09a7c632fd1	g.chr20:13763443T>C	ENST00000202816.1	-	2	451	c.344A>G	c.(343-345)aAa>aGa	p.K115R	NDUFAF5_ENST00000378106.5_5'Flank|NDUFAF5_ENST00000463598.1_5'Flank	NM_001276380.1|NM_016649.3	NP_001263309.1|NP_057733.2	Q9H501	ESF1_HUMAN	ESF1, nucleolar pre-rRNA processing protein, homolog (S. cerevisiae)	115	Lys-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	extracellular space (GO:0005615)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(2)|skin(1)|stomach(1)	31						CTTGGTTTCTTTCTTTTTCTC	0.274																																						ENST00000202816.1																			0				endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(2)|skin(1)|stomach(1)	31						c.(343-345)aAa>aGa		ESF1, nucleolar pre-rRNA processing protein, homolog (S. cerevisiae)							33	36	35					20																	13763443		2162	4270	6432	SO:0001583	missense	51575				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus|nucleoplasm		g.chr20:13763443T>C		CCDS13117.1	20p12.1	2007-02-12	2006-11-13	2006-11-13	ENSG00000089048	ENSG00000089048			15898	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 6"	C20orf6			Standard	NM_016649		Approved	bA526K24.1	uc002wok.2	Q9H501	OTTHUMG00000031906	ENST00000202816.1:c.344A>G	20.37:g.13763443T>C	ENSP00000202816:p.Lys115Arg						p.K115R	NM_001276380.1|NM_016649.3	NP_001263309.1|NP_057733.2	Q9H501	ESF1_HUMAN			2	451	-			115			Lys-rich.		Q86X92|Q9H9Q5|Q9HA35|Q9NX93|Q9P1S6	Missense_Mutation	SNP	ENST00000202816.1	37	c.344A>G	CCDS13117.1	.	.	.	.	.	.	.	.	.	.	T	6.845	0.525207	0.13066	.	.	ENSG00000089048	ENST00000202816	T	0.24908	1.83	4.73	3.62	0.41486	.	0.591795	0.16868	N	0.196257	T	0.17492	0.0420	L	0.29908	0.895	0.09310	N	1	P	0.46395	0.877	B	0.40741	0.339	T	0.06844	-1.0804	10	0.35671	T	0.21	.	7.6167	0.28163	0.0:0.1695:0.0:0.8305	.	115	Q9H501	ESF1_HUMAN	R	115	ENSP00000202816:K115R	ENSP00000202816:K115R	K	-	2	0	ESF1	13711443	0.869000	0.29996	0.313000	0.25210	0.112000	0.19704	2.249000	0.43169	0.647000	0.30713	0.482000	0.46254	AAA		0.274	ESF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078049.1	NM_016649		14	19	0	0	0	1	0	14	19					C	13763443	T	C	13763443	3	2	146	1	0	0	0	0	1	0	0	0	5251	1841	64	4	2263	4	ESF1	20	13763443	Missense_Mutation	SNP	T	TCGA-FC-A6HD-01A-11D-A31L-08		13763443	49262077	42	7273											
PIK3R3	8503	broad.mit.edu	37	chr1	46546396	46546396	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atttggaactgctgaagtcaTtggcttaggtggctttggtg	7	15	14	5	0	1	1	1	1	0	0	1	2	1	2	0	5	2	3	0	5	3	4			TCGA-FC-A8O0-01A-41D-A377-08	TCGA-FC-A8O0-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79086298-47f2-4553-bf73-fc0572aebf2e	c3e0e54f-67a2-4cc7-9b98-51cd1fc1c318	g.chr1:46546396T>C	ENST00000262741.5	-	2	822	c.133A>G	c.(133-135)Atg>Gtg	p.M45V	PIK3R3_ENST00000354242.4_Missense_Mutation_p.M45V|PIK3R3_ENST00000423209.1_Missense_Mutation_p.M45V|PIK3R3_ENST00000372006.1_Missense_Mutation_p.M45V|PIK3R3_ENST00000340332.6_Intron|PIK3R3_ENST00000420542.1_Missense_Mutation_p.M45V|PIK3R3_ENST00000540385.1_Missense_Mutation_p.M91V	NM_003629.3	NP_003620.3	Q92569	P55G_HUMAN	phosphoinositide-3-kinase, regulatory subunit 3 (gamma)	45					insulin receptor signaling pathway (GO:0008286)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|phosphatidylinositol 3-kinase complex (GO:0005942)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|phosphatidylinositol 3-kinase regulator activity (GO:0035014)			endometrium(1)|large_intestine(5)|lung(6)|prostate(2)	14	Acute lymphoblastic leukemia(166;0.155)				Isoprenaline(DB01064)	GCTGAAGTCATTGGCTTAGGT	0.403																																						ENST00000262741.5																			0				endometrium(1)|large_intestine(5)|lung(6)|prostate(2)	14						c.(133-135)Atg>Gtg		phosphoinositide-3-kinase, regulatory subunit 3 (gamma)							237	249	245					1																	46546396		2203	4300	6503	SO:0001583	missense	8503				insulin receptor signaling pathway|platelet activation|T cell costimulation		1-phosphatidylinositol-3-kinase activity|protein binding	g.chr1:46546396T>C	BC021622	CCDS529.1	1p34.1	2013-02-14	2008-02-04		ENSG00000117461	ENSG00000117461		"SH2 domain containing"	8981	protein-coding gene	gene with protein product		606076				9524259	Standard	NM_003629		Approved	p55	uc001cpb.4	Q92569	OTTHUMG00000008096	ENST00000262741.5:c.133A>G	1.37:g.46546396T>C	ENSP00000262741:p.Met45Val					PIK3R3_ENST00000423209.1_Missense_Mutation_p.M45V|PIK3R3_ENST00000372006.1_Missense_Mutation_p.M45V|PIK3R3_ENST00000420542.1_Missense_Mutation_p.M45V|PIK3R3_ENST00000354242.4_Missense_Mutation_p.M45V|PIK3R3_ENST00000340332.6_Intron|PIK3R3_ENST00000540385.1_Missense_Mutation_p.M91V	p.M45V	NM_003629.3	NP_003620.3	Q92569	P55G_HUMAN			2	822	-	Acute lymphoblastic leukemia(166;0.155)		45					B2R9C1|D3DQ12|O60482|Q5T4P1|Q5T4P2	Missense_Mutation	SNP	ENST00000262741.5	37	c.133A>G	CCDS529.1	.	.	.	.	.	.	.	.	.	.	T	7.033	0.561044	0.13498	.	.	ENSG00000117461	ENST00000372006;ENST00000262741;ENST00000420542;ENST00000354242;ENST00000540385;ENST00000423209;ENST00000425892	T;T;T;T;T;T;T	0.79845	-1.15;-1.15;-1.15;-1.31;-1.15;-1.31;1.13	5.07	-0.627	0.11541	.	0.219989	0.51477	N	0.000090	T	0.65606	0.2707	L	0.47716	1.5	0.80722	D	1	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.04013	0.0;0.001;0.0;0.0	T	0.48559	-0.9025	10	0.09084	T	0.74	.	6.3609	0.21427	0.0:0.2216:0.122:0.6564	.	91;78;45;45	F6TDL0;Q7Z3W2;Q92569-2;Q92569	.;.;.;P55G_HUMAN	V	45;45;45;45;91;45;45	ENSP00000361075:M45V;ENSP00000262741:M45V;ENSP00000412546:M45V;ENSP00000346188:M45V;ENSP00000439913:M91V;ENSP00000391431:M45V;ENSP00000416647:M45V	ENSP00000262741:M45V	M	-	1	0	PIK3R3	46318983	0.978000	0.34361	0.999000	0.59377	0.995000	0.86356	0.099000	0.15210	0.014000	0.14944	0.383000	0.25322	ATG		0.403	PIK3R3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022171.1	NM_003629		7	252	0	0	0	1	0	7	252					C	46546396	T	C	46546396	3	2	147	1	0	0	0	0	1	0	0	0	11920	1493	52	4	1288	4	PIK3R3	1	46546396	Missense_Mutation	SNP	T	TCGA-FC-A8O0-01A-41D-A377-08		46546396	202704225	1	7274											
VWA3B	200403	broad.mit.edu	37	chr2	98844684	98844684	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gaatgaagatctgactctttTagttaaggaaatggaacagg	15	11	11	4	0	2	3	0	2	2	1	2	6	2	5	0	3	1	1	0	3	6	3			TCGA-FC-A8O0-01A-41D-A377-08	TCGA-FC-A8O0-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79086298-47f2-4553-bf73-fc0572aebf2e	c3e0e54f-67a2-4cc7-9b98-51cd1fc1c318	g.chr2:98844684T>C	ENST00000477737.1	+	15	2243	c.2039T>C	c.(2038-2040)tTa>tCa	p.L680S		NM_144992.4	NP_659429.4	Q502W6	VWA3B_HUMAN	von Willebrand factor A domain containing 3B	680	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.									NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						CTGACTCTTTTAGTTAAGGAA	0.368																																						ENST00000477737.1																			0				NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						c.(2038-2040)tTa>tCa		von Willebrand factor A domain containing 3B							101	100	100					2																	98844684		1930	4134	6064	SO:0001583	missense	200403							g.chr2:98844684T>C	AL832761	CCDS42718.1	2q11.2	2008-02-05			ENSG00000168658	ENSG00000168658			28385	protein-coding gene	gene with protein product						12477932	Standard	NM_144992		Approved	DKFZp686F2227, MGC26733	uc002syo.3	Q502W6	OTTHUMG00000153104	ENST00000477737.1:c.2039T>C	2.37:g.98844684T>C	ENSP00000417955:p.Leu680Ser						p.L680S	NM_144992.4	NP_659429.4	Q502W6	VWA3B_HUMAN			15	2243	+			680			VWFA.		B9EK71|Q86T73|Q8N2D0|Q8N770|Q8NA79|Q8ND63|Q8ND65|Q8WW02	Missense_Mutation	SNP	ENST00000477737.1	37	c.2039T>C	CCDS42718.1	.	.	.	.	.	.	.	.	.	.	T	14.68	2.608108	0.46527	.	.	ENSG00000168658	ENST00000477737	T	0.12361	2.69	5.8	5.8	0.92144	von Willebrand factor, type A (1);	0.118324	0.34156	N	0.004206	T	0.36771	0.0979	M	0.82056	2.57	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;0.995	D;D;D;D	0.91635	0.999;0.993;0.997;0.909	T	0.23976	-1.0173	10	0.87932	D	0	.	8.6151	0.33826	0.0:0.0847:0.0:0.9153	.	72;680;680;680	Q502W6-5;Q502W6;Q502W6-8;Q502W6-6	.;VWA3B_HUMAN;.;.	S	680	ENSP00000417955:L680S	ENSP00000417955:L680S	L	+	2	0	VWA3B	98211116	0.998000	0.40836	0.404000	0.26397	0.490000	0.33462	4.388000	0.59633	2.211000	0.71520	0.383000	0.25322	TTA		0.368	VWA3B-020	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353469.2	NM_144992		29	45	0	0	0	1	0	29	45					C	98844684	T	C	98844684	3	2	147	1	0	0	0	0	1	0	0	0	17238	1764	61	4	2093	4	VWA3B	2	98844684	Missense_Mutation	SNP	T	TCGA-FC-A8O0-01A-41D-A377-08		98844684	144354689	2	7275											
ADAM29	11086	broad.mit.edu	37	chr4	175898876	175898876	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	agttacctccccagagtcaaCcttgggtgatgccttcccag	8	10	9	14	0	1	2	1	1	0	1	3	2	3	2	6	1	3	1	6	1	2	3	rs138923714		TCGA-FC-A8O0-01A-41D-A377-08	TCGA-FC-A8O0-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79086298-47f2-4553-bf73-fc0572aebf2e	c3e0e54f-67a2-4cc7-9b98-51cd1fc1c318	g.chr4:175898876C>A	ENST00000359240.3	+	5	2870	c.2200C>A	c.(2200-2202)Cct>Act	p.P734T	RP13-577H12.2_ENST00000507525.1_RNA|ADAM29_ENST00000404450.4_Missense_Mutation_p.P734T|ADAM29_ENST00000514159.1_Missense_Mutation_p.P734T|ADAM29_ENST00000445694.1_Missense_Mutation_p.P734T	NM_001278125.1|NM_014269.4	NP_001265054.1|NP_055084.3	Q9UKF5	ADA29_HUMAN	ADAM metallopeptidase domain 29	734					spermatogenesis (GO:0007283)	integral component of plasma membrane (GO:0005887)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)		CCAGAGTCAACCTTGGGTGAT	0.493													C|||	1	0.000199681	0	0	5008	,	,		20453	0		0	False		,,,				2504	0.001				Ovarian(140;1727 1835 21805 25838 41440)	ENST00000359240.3																			0				NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93						c.(2200-2202)Cct>Act		ADAM metallopeptidase domain 29		C	THR/PRO,THR/PRO,THR/PRO,THR/PRO	4,4402	8.1+/-20.4	0,4,2199	118	108	112		2200,2200,2200,2200	1.2	0	4	dbSNP_134	112	0,8600		0,0,4300	no	missense,missense,missense,missense	ADAM29	NM_001130703.1,NM_001130704.1,NM_001130705.1,NM_014269.4	38,38,38,38	0,4,6499	AA,AC,CC		0.0,0.0908,0.0308	possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging	734/821,734/821,734/821,734/821	175898876	4,13002	2203	4300	6503	SO:0001583	missense	11086				proteolysis|spermatogenesis	integral to plasma membrane	metalloendopeptidase activity|zinc ion binding	g.chr4:175898876C>A	AF171929	CCDS3823.1	4q34.1	2012-05-16	2005-08-18		ENSG00000168594	ENSG00000168594		"ADAM metallopeptidase domain containing"	207	protein-coding gene	gene with protein product	"cancer/testis antigen 73"	604778	"a disintegrin and metalloproteinase domain 29"			10644455	Standard	NM_014269		Approved	svph1, CT73	uc031shw.1	Q9UKF5	OTTHUMG00000160764	ENST00000359240.3:c.2200C>A	4.37:g.175898876C>A	ENSP00000352177:p.Pro734Thr					ADAM29_ENST00000514159.1_Missense_Mutation_p.P734T|ADAM29_ENST00000404450.4_Missense_Mutation_p.P734T|RP13-577H12.2_ENST00000507525.1_RNA|ADAM29_ENST00000445694.1_Missense_Mutation_p.P734T	p.P734T	NM_001278125.1|NM_014269.4	NP_001265054.1|NP_055084.3	Q9UKF5	ADA29_HUMAN		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)	5	2870	+		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)	734					Q4W5F3|Q9UHP1|Q9UKF3|Q9UKF4	Missense_Mutation	SNP	ENST00000359240.3	37	c.2200C>A	CCDS3823.1	.	.	.	.	.	.	.	.	.	.	C	6.903	0.536185	0.13188	9.08E-4	0.0	ENSG00000168594	ENST00000359240;ENST00000445694;ENST00000404450;ENST00000514159	T;T;T;T	0.01981	4.52;4.52;4.52;4.52	2.13	1.24	0.21308	.	.	.	.	.	T	0.00998	0.0033	N	0.08118	0	0.09310	N	1	P	0.51933	0.949	B	0.34346	0.18	T	0.51553	-0.8691	8	.	.	.	.	4.851	0.13537	0.0:0.6435:0.0:0.3565	.	734	Q9UKF5	ADA29_HUMAN	T	734	ENSP00000352177:P734T;ENSP00000414544:P734T;ENSP00000384229:P734T;ENSP00000423517:P734T	.	P	+	1	0	ADAM29	176135451	0.005000	0.15991	0.014000	0.15608	0.019000	0.09904	-0.347000	0.07750	0.179000	0.19938	0.297000	0.19635	CCT		0.493	ADAM29-201	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding				44	50	1	0	1.48734e-19	1	1.60793e-19	44	50					A	175898876	C	A	175898876	3	1	147	1	0	0	0	0	1	0	0	0	247	507	18	5	2202	5	ADAM29	4	175898876	Missense_Mutation	SNP	C	TCGA-FC-A8O0-01A-41D-A377-08		175898876	15255400	3	7276											
FAM170A	340069	broad.mit.edu	37	chr5	118970330	118970330	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggaggaagagaaaccagaagCaaaggaggaggaggggcagc	17	0	19	5	0	0	2	0	0	0	2	0	8	0	7	1	7	3	2	1	7	4	0			TCGA-FC-A8O0-01A-41D-A377-08	TCGA-FC-A8O0-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79086298-47f2-4553-bf73-fc0572aebf2e	c3e0e54f-67a2-4cc7-9b98-51cd1fc1c318	g.chr5:118970330C>A	ENST00000515256.1	+	3	1059	c.887C>A	c.(886-888)gCa>gAa	p.A296E				A1A519	F170A_HUMAN	family with sequence similarity 170, member A	296	Glu-rich.				positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(7)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	24						aaaccagaagcaaaggaggag	0.527																																						ENST00000515256.1																			0				breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(7)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	24						c.(886-888)gCa>gAa		family with sequence similarity 170, member A							101	127	119					5																	118970330		2014	4163	6177	SO:0001583	missense	340069					intracellular	zinc ion binding	g.chr5:118970330C>A	AF427126	CCDS43353.1, CCDS54889.1	5q23.1	2008-06-12			ENSG00000164334	ENSG00000164334			27963	protein-coding gene	gene with protein product						12477932	Standard	NM_182761		Approved		uc003ksn.3	A1A519	OTTHUMG00000162946	ENST00000515256.1:c.887C>A	5.37:g.118970330C>A	ENSP00000422684:p.Ala296Glu						p.A296E			A1A519	F170A_HUMAN			3	1059	+			296			Glu-rich.		Q66LM8|Q7Z4V2|Q8IW94	Missense_Mutation	SNP	ENST00000515256.1	37	c.887C>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	1.510|1.510	-0.549765|-0.549765	0.03996|0.03996	.|.	.|.	ENSG00000164334|ENSG00000164334	ENST00000515256|ENST00000296787	T|.	0.28255|.	1.62|.	4.15|4.15	1.65|1.65	0.23941|0.23941	.|.	1.844240|.	0.02466|.	N|.	0.087027|.	T|T	0.07324|0.07324	0.0185|0.0185	N|N	0.00347|0.00347	-1.61|-1.61	0.09310|0.09310	N|N	1|1	B;B|.	0.02656|.	0.0;0.0|.	B;B|.	0.04013|.	0.0;0.001|.	T|T	0.37033|0.37033	-0.9723|-0.9723	9|5	.|.	.|.	.|.	-3.4698|-3.4698	8.4743|8.4743	0.33003|0.33003	0.5989:0.4011:0.0:0.0|0.5989:0.4011:0.0:0.0	.|.	249;296|.	D6RIE9;A1A519|.	.;F170A_HUMAN|.	E|K	296|231	ENSP00000422684:A296E|.	.|.	A|Q	+|+	2|1	0|0	FAM170A|FAM170A	118998229|118998229	0.001000|0.001000	0.12720|0.12720	0.002000|0.002000	0.10522|0.10522	0.006000|0.006000	0.05464|0.05464	0.512000|0.512000	0.22755|0.22755	0.354000|0.354000	0.24105|0.24105	-0.266000|-0.266000	0.10368|0.10368	GCA|CAA		0.527	FAM170A-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000371126.1	NM_182761		11	60	1	0	0.000978159	1	0.00102964	11	60					A	118970330	C	A	118970330	3	1	147	1	0	0	0	0	1	0	0	0	5489	710	25	5	897	5	FAM170A	5	118970330	Missense_Mutation	SNP	C	TCGA-FC-A8O0-01A-41D-A377-08		118970330	61944930	4	7277											
CEP120	153241	broad.mit.edu	37	chr5	122682431	122682431	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggaatcctggtattgtttttGctcttgttgccttaacctga	6	18	9	8	0	1	1	0	1	1	0	2	2	2	2	3	2	3	4	3	2	3	7			TCGA-FC-A8O0-01A-41D-A377-08	TCGA-FC-A8O0-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79086298-47f2-4553-bf73-fc0572aebf2e	c3e0e54f-67a2-4cc7-9b98-51cd1fc1c318	g.chr5:122682431G>C	ENST00000306467.5	-	20	3047	c.2743C>G	c.(2743-2745)Caa>Gaa	p.Q915E	CEP120_ENST00000328236.5_Missense_Mutation_p.Q915E|CEP120_ENST00000306481.6_Missense_Mutation_p.Q889E			Q8N960	CE120_HUMAN	centrosomal protein 120kDa	915					astral microtubule organization (GO:0030953)|cerebral cortex development (GO:0021987)|interkinetic nuclear migration (GO:0022027)|neurogenesis (GO:0022008)|regulation of microtubule-based process (GO:0032886)|regulation of protein localization (GO:0032880)	centrosome (GO:0005813)|cytoplasm (GO:0005737)				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	29						TATTGTTTTTGCTCTTGTTGC	0.393																																						ENST00000306467.5																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	29						c.(2743-2745)Caa>Gaa		centrosomal protein 120kDa							107	115	112					5																	122682431		2203	4300	6503	SO:0001583	missense	153241					centrosome		g.chr5:122682431G>C	AK095646	CCDS4134.2, CCDS54890.1	5q23.2	2014-02-20	2008-08-14	2008-08-14	ENSG00000168944	ENSG00000168944			26690	protein-coding gene	gene with protein product		613446	"coiled-coil domain containing 100"	CCDC100		17920017	Standard	NM_153223		Approved	FLJ36090	uc003ktk.3	Q8N960	OTTHUMG00000128922	ENST00000306467.5:c.2743C>G	5.37:g.122682431G>C	ENSP00000303058:p.Gln915Glu					CEP120_ENST00000306481.6_Missense_Mutation_p.Q889E|CEP120_ENST00000328236.5_Missense_Mutation_p.Q915E	p.Q915E			Q8N960	CE120_HUMAN			20	3047	-			915					Q6AI52|Q6AW89|Q8IWB5|Q8N9Y0|Q8NDE8	Missense_Mutation	SNP	ENST00000306467.5	37	c.2743C>G	CCDS4134.2	.	.	.	.	.	.	.	.	.	.	G	0.690	-0.794784	0.02862	.	.	ENSG00000168944	ENST00000306467;ENST00000328236;ENST00000306481	T;T;T	0.20881	2.04;2.04;2.04	5.76	3.65	0.41850	.	0.412335	0.18886	U	0.128423	T	0.06462	0.0166	N	0.02011	-0.69	0.45528	D	0.99848	B	0.02656	0.0	B	0.04013	0.001	T	0.21008	-1.0258	10	0.02654	T	1	-5.716	9.6184	0.39706	0.0839:0.3866:0.5295:0.0	.	915	Q8N960	CE120_HUMAN	E	915;915;889	ENSP00000303058:Q915E;ENSP00000327504:Q915E;ENSP00000307419:Q889E	ENSP00000303058:Q915E	Q	-	1	0	CEP120	122710330	0.992000	0.36948	0.990000	0.47175	0.966000	0.64601	2.489000	0.45285	1.431000	0.47355	0.655000	0.94253	CAA		0.393	CEP120-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250899.2	NM_153223		30	44	0	0	0	1	0	30	44					C	122682431	G	C	122682431	3	2	147	1	0	0	0	0	1	0	0	0	3246	1328	46	5	221	5	CEP120	5	122682431	Missense_Mutation	SNP	G	TCGA-FC-A8O0-01A-41D-A377-08	3712101	122682431	58232829	5	7278											
HNRNPH1	3187	broad.mit.edu	37	chr5	179043911	179043911	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tttggctaccataagcaccaCcgcttgctcctgctgtagaa	9	11	8	13	1	0	1	0	0	0	1	1	1	1	1	4	1	4	6	4	1	4	5			TCGA-FC-A8O0-01A-41D-A377-08	TCGA-FC-A8O0-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79086298-47f2-4553-bf73-fc0572aebf2e	c3e0e54f-67a2-4cc7-9b98-51cd1fc1c318	g.chr5:179043911C>T	ENST00000356731.5	-	10	2701	c.1166G>A	c.(1165-1167)gGt>gAt	p.G389D	HNRNPH1_ENST00000393432.4_Missense_Mutation_p.G389D|HNRNPH1_ENST00000511300.2_Intron|HNRNPH1_ENST00000442819.2_Missense_Mutation_p.G389D|HNRNPH1_ENST00000510411.1_Intron|HNRNPH1_ENST00000329433.6_Missense_Mutation_p.G389D|HNRNPH1_ENST00000524180.1_5'Flank			P31943	HNRH1_HUMAN	heterogeneous nuclear ribonucleoprotein H1 (H)	389	2 X 16 AA Gly-rich approximate repeats.|2 X 19 AA perfect repeats.				gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|regulation of RNA splicing (GO:0043484)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|poly(U) RNA binding (GO:0008266)|RNA binding (GO:0003723)			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(4)|skin(1)	14						ATAAGCACCACCGCTTGCTCC	0.353																																						ENST00000356731.5																			0				breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(4)|skin(1)	14						c.(1165-1167)gGt>gAt		heterogeneous nuclear ribonucleoprotein H1 (H)							107	105	106					5																	179043911		2203	4300	6503	SO:0001583	missense	3187				regulation of RNA splicing	actin cytoskeleton|catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|poly(U) RNA binding|protein binding	g.chr5:179043911C>T	BC001348	CCDS4446.1	5q35.3	2013-02-12		2008-04-18	ENSG00000169045	ENSG00000169045		"RNA binding motif (RRM) containing"	5041	protein-coding gene	gene with protein product		601035		HNRPH1		7499401	Standard	NM_005520		Approved	hnRNPH	uc003mkf.5	P31943	OTTHUMG00000130908	ENST00000356731.5:c.1166G>A	5.37:g.179043911C>T	ENSP00000349168:p.Gly389Asp					HNRNPH1_ENST00000511300.2_Intron|HNRNPH1_ENST00000510411.1_Intron|HNRNPH1_ENST00000442819.2_Missense_Mutation_p.G389D|HNRNPH1_ENST00000393432.4_Missense_Mutation_p.G389D|HNRNPH1_ENST00000329433.6_Missense_Mutation_p.G389D	p.G389D			P31943	HNRH1_HUMAN			10	2701	-			389			2 X 16 AA Gly-rich approximate repeats.|2 X 19 AA perfect repeats.		B3KW86|D3DWQ2|Q6IBM4	Missense_Mutation	SNP	ENST00000356731.5	37	c.1166G>A	CCDS4446.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	16.14|16.14	3.038742|3.038742	0.55003|0.55003	.|.	.|.	ENSG00000169045|ENSG00000169045	ENST00000393432;ENST00000442819;ENST00000356731;ENST00000329433;ENST00000523921|ENST00000521173	T;T;T;T;T|.	0.11385|.	2.78;2.78;2.78;2.78;2.78|.	5.84|5.84	5.84|5.84	0.93424|0.93424	.|.	0.000000|.	0.64402|.	D|.	0.000016|.	T|T	0.58438|0.58438	0.2122|0.2122	L|L	0.27053|0.27053	0.805|0.805	0.80722|0.80722	D|D	1|1	P|.	0.37423|.	0.594|.	B|.	0.30316|.	0.114|.	T|T	0.50709|0.50709	-0.8796|-0.8796	10|5	0.36615|.	T|.	0.2|.	-4.0964|-4.0964	20.13|20.13	0.97997|0.97997	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	389|.	P31943|.	HNRH1_HUMAN|.	D|M	389;389;389;389;183|264	ENSP00000377082:G389D;ENSP00000397797:G389D;ENSP00000349168:G389D;ENSP00000327539:G389D;ENSP00000429270:G183D|.	ENSP00000327539:G389D|.	G|V	-|-	2|1	0|0	HNRNPH1|HNRNPH1	178976517|178976517	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	4.499000|4.499000	0.60380|0.60380	2.751000|2.751000	0.94390|0.94390	0.650000|0.650000	0.86243|0.86243	GGT|GTG		0.353	HNRNPH1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253497.3	NM_005520		25	101	0	0	0	1	0	25	101					T	179043911	C	T	179043911	3	4	147	1	0	0	0	0	1	0	0	0	7266	507	18	3	195	3	HNRNPH1	5	179043911	Missense_Mutation	SNP	C	TCGA-FC-A8O0-01A-41D-A377-08	56361480	179043911	1871349	6	7279											
BAT5	7920	broad.mit.edu	37	chr6	31668722	31668722	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtttcctctccacctacctcGgaggcaggccacacctgcca	7	8	8	18	1	1	0	0	0	1	0	4	1	2	1	7	3	2	2	7	3	1	2			TCGA-FC-A8O0-01A-41D-A377-08	TCGA-FC-A8O0-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79086298-47f2-4553-bf73-fc0572aebf2e	c3e0e54f-67a2-4cc7-9b98-51cd1fc1c318	g.chr6:31668722G>A	ENST00000395952.3	-	4	502	c.340C>T	c.(340-342)Cga>Tga	p.R114*	ABHD16A_ENST00000440843.2_Nonsense_Mutation_p.R81*|XXbac-BPG32J3.20_ENST00000461287.1_3'UTR|MIR4646_ENST00000580775.1_RNA|ABHD16A_ENST00000375842.4_5'UTR|ABHD16A_ENST00000538874.1_Silent_p.S15S	NM_021160.2	NP_066983.1	O95870	ABHGA_HUMAN	abhydrolase domain containing 16A	114						integral component of membrane (GO:0016021)	hydrolase activity (GO:0016787)			endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)	10						CACCTACCTCGGAGGCAGGCC	0.483																																						ENST00000395952.3																			0				endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)	10						c.(340-342)Cga>Tga		abhydrolase domain containing 16A							82	74	77					6																	31668722		2203	4300	6503	SO:0001587	stop_gained	7920					integral to membrane	hydrolase activity|protein binding	g.chr6:31668722G>A	AF129756	CCDS4713.1, CCDS54988.1	6p21.3	2013-01-17	2010-12-09	2010-12-09	ENSG00000204427	ENSG00000204427		"Abhydrolase domain containing"	13921	protein-coding gene	gene with protein product		142620	"HLA-B associated transcript 5"	BAT5		2911734, 2813433	Standard	NM_021160		Approved	NG26, D6S82E	uc003nvy.2	O95870	OTTHUMG00000031177	ENST00000395952.3:c.340C>T	6.37:g.31668722G>A	ENSP00000379282:p.Arg114*					XXbac-BPG32J3.20_ENST00000461287.1_3'UTR|ABHD16A_ENST00000375842.4_5'UTR|ABHD16A_ENST00000440843.2_Nonsense_Mutation_p.R81*|ABHD16A_ENST00000538874.1_Silent_p.S15S	p.R114*	NM_021160.2	NP_066983.1	O95870	ABHGA_HUMAN			4	502	-			114					A2BEY3|B7Z4R6|Q5SRR1|Q5SRR2|Q8WYH0|Q9NW33	Nonsense_Mutation	SNP	ENST00000395952.3	37	c.340C>T	CCDS4713.1	.	.	.	.	.	.	.	.	.	.	G	37	6.181496	0.97352	.	.	ENSG00000204427	ENST00000395952;ENST00000440843	.	.	.	5.13	5.13	0.70059	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.5142	0.50511	0.0:0.0:0.8208:0.1792	.	.	.	.	X	114;81	.	ENSP00000379282:R114X	R	-	1	2	ABHD16A	31776701	1.000000	0.71417	1.000000	0.80357	0.838000	0.47535	3.249000	0.51437	2.547000	0.85894	0.491000	0.48974	CGA		0.483	ABHD16A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076342.4			15	25	0	0	0	1	0	15	25					A	31668722	G	A	31668722	4	1	147	1	0	0	0	0	0	1	0	0	1324	1124	39	2	1404	2	BAT5	6	31668722	Nonsense_Mutation	SNP	G	TCGA-FC-A8O0-01A-41D-A377-08		31668722	139446345	7	7280											
DAAM2	23500	broad.mit.edu	37	chr6	39869131	39869131	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacagcaagatgcagccagaCgaattctttggcatctttga	12	10	10	9	1	2	3	0	1	2	2	2	5	2	3	1	1	3	3	1	1	2	3	rs368026649		TCGA-FC-A8O0-01A-41D-A377-08	TCGA-FC-A8O0-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79086298-47f2-4553-bf73-fc0572aebf2e	c3e0e54f-67a2-4cc7-9b98-51cd1fc1c318	g.chr6:39869131C>T	ENST00000398904.2	+	24	3047	c.2865C>T	c.(2863-2865)gaC>gaT	p.D955D	DAAM2_ENST00000274867.4_Silent_p.D955D|RP11-61I13.3_ENST00000437947.1_RNA|DAAM2_ENST00000538976.1_Silent_p.D954D			Q86T65	DAAM2_HUMAN	dishevelled associated activator of morphogenesis 2	955	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.				actin cytoskeleton organization (GO:0030036)|determination of left/right symmetry (GO:0007368)					NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(18)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)	49	Ovarian(28;0.0355)|Colorectal(47;0.196)					TGCAGCCAGACGAATTCTTTG	0.577																																						ENST00000538976.1																			0				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(18)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)	49						c.(2860-2862)gaC>gaT		dishevelled associated activator of morphogenesis 2							155	158	157					6																	39869131		2069	4207	6276	SO:0001819	synonymous_variant	23500				actin cytoskeleton organization		actin binding|Rho GTPase binding	g.chr6:39869131C>T	AB002379	CCDS54999.1, CCDS56426.1	6p21.1	2008-07-30			ENSG00000146122	ENSG00000146122			18143	protein-coding gene	gene with protein product		606627				11779461, 12632087	Standard	NM_015345		Approved	KIAA0381	uc003oow.3	Q86T65	OTTHUMG00000014653	ENST00000398904.2:c.2865C>T	6.37:g.39869131C>T						DAAM2_ENST00000398904.2_Silent_p.D955D|DAAM2_ENST00000274867.4_Silent_p.D955D	p.D954D	NM_015345.3	NP_056160.2	Q86T65	DAAM2_HUMAN			24	3044	+	Ovarian(28;0.0355)|Colorectal(47;0.196)		955			FH2.		G5EA45|Q5T4T8|Q5T4U0|Q9NQI5|Q9Y4G0	Silent	SNP	ENST00000398904.2	37	c.2862C>T	CCDS56426.1																																																																																				0.577	DAAM2-003	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000280648.1			6	161	0	0	0	1	0	6	161					T	39869131	C	T	39869131	2	4	147	1	0	0	0	0	0	0	0	1	4216	535	19	1		1	DAAM2	6	39869131	Silent	SNP	C	TCGA-FC-A8O0-01A-41D-A377-08	8200409	39869131	131245936	8	7281											
ENPP5	59084	broad.mit.edu	37	chr6	46129452	46129452	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atgggctaaaaatattggatGcatatctgctaacgcattat	14	13	8	6	1	1	0	0	0	1	0	1	1	1	1	0	2	3	4	0	2	7	6			TCGA-FC-A8O0-01A-41D-A377-08	TCGA-FC-A8O0-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79086298-47f2-4553-bf73-fc0572aebf2e	c3e0e54f-67a2-4cc7-9b98-51cd1fc1c318	g.chr6:46129452G>A	ENST00000371383.2	-	5	1305	c.1045C>T	c.(1045-1047)Cat>Tat	p.H349Y	ENPP5_ENST00000230565.3_Missense_Mutation_p.H349Y					ectonucleotide pyrophosphatase/phosphodiesterase 5 (putative)											endometrium(3)|kidney(1)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	12						AATATTGGATGCATATCTGCT	0.388																																						ENST00000371383.2																			0				endometrium(3)|kidney(1)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	12						c.(1045-1047)Cat>Tat		ectonucleotide pyrophosphatase/phosphodiesterase 5 (putative)							230	244	239					6																	46129452		2203	4300	6503	SO:0001583	missense	59084					extracellular region|integral to membrane	hydrolase activity	g.chr6:46129452G>A	AL035701	CCDS4915.1	6p21.1-p11.2	2010-06-24	2010-06-24		ENSG00000112796	ENSG00000112796			13717	protein-coding gene	gene with protein product						11027689	Standard	XM_005249259		Approved		uc003oxz.1	Q9UJA9	OTTHUMG00000014781	ENST00000371383.2:c.1045C>T	6.37:g.46129452G>A	ENSP00000360436:p.His349Tyr					ENPP5_ENST00000230565.3_Missense_Mutation_p.H349Y	p.H349Y			Q9UJA9	ENPP5_HUMAN			5	1305	-			349						Missense_Mutation	SNP	ENST00000371383.2	37	c.1045C>T	CCDS4915.1	.	.	.	.	.	.	.	.	.	.	G	29.0	4.966086	0.92855	.	.	ENSG00000112796	ENST00000371383;ENST00000230565	T;T	0.75260	-0.92;-0.92	5.63	5.63	0.86233	Alkaline phosphatase-like, alpha/beta/alpha (1);Alkaline-phosphatase-like, core domain (1);	0.185047	0.48286	D	0.000192	T	0.69646	0.3134	M	0.66939	2.045	0.49915	D	0.999836	P	0.42483	0.781	B	0.41466	0.358	T	0.75918	-0.3148	10	0.72032	D	0.01	-15.6285	17.8577	0.88771	0.0:0.0:1.0:0.0	.	349	Q9UJA9	ENPP5_HUMAN	Y	349	ENSP00000360436:H349Y;ENSP00000230565:H349Y	ENSP00000230565:H349Y	H	-	1	0	ENPP5	46237411	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.855000	0.92236	2.656000	0.90262	0.655000	0.94253	CAT		0.388	ENPP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040779.2			84	172	0	0	0	1	0	84	172					A	46129452	G	A	46129452	3	1	147	1	0	0	0	0	1	0	0	0	5133	1319	46	3	392	3	ENPP5	6	46129452	Missense_Mutation	SNP	G	TCGA-FC-A8O0-01A-41D-A377-08	6260321	46129452	124985615	9	7282											
ANGPT2	285	broad.mit.edu	37	chr8	6360776	6360776	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aaggaccacatgcatcaaacCaccagcctgtgaaagtaaaa	18	5	7	11	0	1	1	1	1	0	0	1	2	1	2	4	1	3	2	4	1	5	1			TCGA-FC-A8O0-01A-41D-A377-08	TCGA-FC-A8O0-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79086298-47f2-4553-bf73-fc0572aebf2e	c3e0e54f-67a2-4cc7-9b98-51cd1fc1c318	g.chr8:6360776C>T	ENST00000325203.5	-	9	1811	c.1337G>A	c.(1336-1338)tGg>tAg	p.W446*	ANGPT2_ENST00000338312.6_Nonsense_Mutation_p.W394*|ANGPT2_ENST00000415216.1_Nonsense_Mutation_p.W445*|MCPH1_ENST00000344683.5_Intron			O15123	ANGP2_HUMAN	angiopoietin 2	446	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cellular response to growth factor stimulus (GO:0071363)|germ cell development (GO:0007281)|glomerulus vasculature development (GO:0072012)|leukocyte migration (GO:0050900)|maternal process involved in female pregnancy (GO:0060135)|negative regulation of angiogenesis (GO:0016525)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of positive chemotaxis (GO:0050928)|organ regeneration (GO:0031100)|positive regulation of angiogenesis (GO:0045766)|response to activity (GO:0014823)|response to glucose (GO:0009749)|response to hypoxia (GO:0001666)|response to mechanical stimulus (GO:0009612)|response to organic cyclic compound (GO:0014070)|response to radiation (GO:0009314)|signal transduction (GO:0007165)|Tie signaling pathway (GO:0048014)	cell projection (GO:0042995)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|receptor binding (GO:0005102)|receptor tyrosine kinase binding (GO:0030971)			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	17		Hepatocellular(245;0.0663)		Colorectal(4;0.0142)|READ - Rectum adenocarcinoma(4;0.19)|COAD - Colon adenocarcinoma(4;0.226)		TGCATCAAACCACCAGCCTGT	0.468																																						ENST00000325203.5																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	17						c.(1336-1338)tGg>tAg		angiopoietin 2							147	122	131					8																	6360776		2203	4300	6503	SO:0001587	stop_gained	285				angiogenesis|blood coagulation|leukocyte migration|negative regulation of blood vessel endothelial cell migration|negative regulation of positive chemotaxis|Tie receptor signaling pathway	extracellular space	metal ion binding|receptor tyrosine kinase binding	g.chr8:6360776C>T	AF004327	CCDS5958.1, CCDS47761.1	8p23	2013-02-06			ENSG00000091879	ENSG00000091879		"Fibrinogen C domain containing"	485	protein-coding gene	gene with protein product		601922				9545648	Standard	NM_001147		Approved	Ang2	uc003wqj.4	O15123	OTTHUMG00000090365	ENST00000325203.5:c.1337G>A	8.37:g.6360776C>T	ENSP00000314897:p.Trp446*					ANGPT2_ENST00000415216.1_Nonsense_Mutation_p.W445*|MCPH1_ENST00000344683.5_Intron|ANGPT2_ENST00000338312.6_Nonsense_Mutation_p.W394*	p.W446*			O15123	ANGP2_HUMAN		Colorectal(4;0.0142)|READ - Rectum adenocarcinoma(4;0.19)|COAD - Colon adenocarcinoma(4;0.226)	9	1811	-		Hepatocellular(245;0.0663)	446			Fibrinogen C-terminal.		A0AV38|A8K205|B7ZLM7|Q9NRR7|Q9P2Y7	Nonsense_Mutation	SNP	ENST00000325203.5	37	c.1337G>A	CCDS5958.1	.	.	.	.	.	.	.	.	.	.	C	41	8.583948	0.98872	.	.	ENSG00000091879	ENST00000325203;ENST00000415216;ENST00000338312	.	.	.	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	18.0718	0.89410	0.0:1.0:0.0:0.0	.	.	.	.	X	446;445;394	.	ENSP00000314897:W446X	W	-	2	0	ANGPT2	6348184	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.600000	0.82769	2.941000	0.99782	0.655000	0.94253	TGG		0.468	ANGPT2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206737.1	NM_001147		9	92	0	0	0	1	0	9	92					T	6360776	C	T	6360776	4	4	147	1	0	0	0	0	0	1	0	0	611	595	21	3	157	3	ANGPT2	8	6360776	Nonsense_Mutation	SNP	C	TCGA-FC-A8O0-01A-41D-A377-08		6360776	140003246	10	7283											
TRPS1	7227	broad.mit.edu	37	chr8	116632180	116632180	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catctgatctgcagaaaattCtttgttctttccagatacct	10	16	5	10	0	4	3	0	1	4	2	5	3	5	3	2	0	2	2	2	0	3	5			TCGA-FC-A8O0-01A-41D-A377-08	TCGA-FC-A8O0-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79086298-47f2-4553-bf73-fc0572aebf2e	c3e0e54f-67a2-4cc7-9b98-51cd1fc1c318	g.chr8:116632180C>A	ENST00000220888.5	-	2	265	c.106G>T	c.(106-108)Gaa>Taa	p.E36*	TRPS1_ENST00000395715.3_Nonsense_Mutation_p.E49*|TRPS1_ENST00000519674.1_Nonsense_Mutation_p.E36*|TRPS1_ENST00000520276.1_Nonsense_Mutation_p.E40*|TRPS1_ENST00000519076.1_Nonsense_Mutation_p.E36*			Q9UHF7	TRPS1_HUMAN	trichorhinophalangeal syndrome I	36					chondrocyte differentiation (GO:0002062)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|NLS-bearing protein import into nucleus (GO:0006607)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|regulation of chondrocyte differentiation (GO:0032330)|regulation of histone deacetylation (GO:0031063)|skeletal system development (GO:0001501)|transcription from RNA polymerase II promoter (GO:0006366)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	111	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)			GCAGAAAATTCTTTGTTCTTT	0.448									Langer-Giedion syndrome																													ENST00000395715.3																			0				autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	111						c.(145-147)Gaa>Taa		trichorhinophalangeal syndrome I							113	101	105					8																	116632180		1862	4124	5986	SO:0001587	stop_gained	7227	Langer-Giedion syndrome	Familial Cancer Database	Trichorhinophalangeal syndrome type 2, TRPS II	negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:116632180C>A	AF183810	CCDS6318.2, CCDS64957.1	8q23.3	2014-06-23			ENSG00000104447	ENSG00000104447		"GATA zinc finger domain containing", "Zinc fingers, C2H2-type"	12340	protein-coding gene	gene with protein product		604386				8530105, 10615131, 10647898	Standard	NM_001282903		Approved	LGCR	uc003yny.3	Q9UHF7	OTTHUMG00000142829	ENST00000220888.5:c.106G>T	8.37:g.116632180C>A	ENSP00000220888:p.Glu36*					TRPS1_ENST00000220888.5_Nonsense_Mutation_p.E36*|TRPS1_ENST00000519674.1_Nonsense_Mutation_p.E36*|TRPS1_ENST00000519076.1_Nonsense_Mutation_p.E36*|TRPS1_ENST00000520276.1_Nonsense_Mutation_p.E40*	p.E49*	NM_014112.2	NP_054831.2	Q9UHF7	TRPS1_HUMAN	Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)		3	722	-	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		36					B4E1Z5|Q08AU2|Q9NWE1|Q9UHH6	Nonsense_Mutation	SNP	ENST00000220888.5	37	c.145G>T		.	.	.	.	.	.	.	.	.	.	C	31	5.089198	0.94100	.	.	ENSG00000104447	ENST00000395715;ENST00000220888;ENST00000519076;ENST00000520276;ENST00000519674;ENST00000395713;ENST00000519815;ENST00000422939	.	.	.	5.82	5.82	0.92795	.	0.233067	0.36893	N	0.002347	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-11.592	20.0966	0.97849	0.0:1.0:0.0:0.0	.	.	.	.	X	49;36;36;40;36;49;49;49	.	ENSP00000220888:E36X	E	-	1	0	TRPS1	116701355	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.123000	0.57917	2.751000	0.94390	0.650000	0.86243	GAA		0.448	TRPS1-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000286436.3	NM_014112		15	49	1	0	0.00244969	1	0.00251251	15	49					A	116632180	C	A	116632180	4	1	147	1	0	0	0	0	0	1	0	0	16590	922	32	5	3759	5	TRPS1	8	116632180	Nonsense_Mutation	SNP	C	TCGA-FC-A8O0-01A-41D-A377-08	110271404	116632180	29731842	11	7284											
ITIH2	3698	broad.mit.edu	37	chr10	7780626	7780626	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agtggttccagattccacccCgtcttgggccaatccttcac	7	11	8	15	1	2	1	1	0	1	1	5	1	5	1	6	2	0	1	6	2	1	4			TCGA-FC-A8O0-01A-41D-A377-08	TCGA-FC-A8O0-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79086298-47f2-4553-bf73-fc0572aebf2e	c3e0e54f-67a2-4cc7-9b98-51cd1fc1c318	g.chr10:7780626C>T	ENST00000358415.4	+	16	2166	c.2000C>T	c.(1999-2001)cCg>cTg	p.P667L	ITIH2_ENST00000379587.4_Missense_Mutation_p.P656L	NM_002216.2	NP_002207.2	P19823	ITIH2_HUMAN	inter-alpha-trypsin inhibitor heavy chain 2	667	O-glycosylated at three sites.				hyaluronan metabolic process (GO:0030212)|negative regulation of endopeptidase activity (GO:0010951)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)			NS(2)|breast(1)|endometrium(8)|kidney(1)|large_intestine(17)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						GATTCCACCCCGTCTTGGGCC	0.527																																						ENST00000358415.4																			0				NS(2)|breast(1)|endometrium(8)|kidney(1)|large_intestine(17)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						c.(1999-2001)cCg>cTg		inter-alpha-trypsin inhibitor heavy chain 2							128	111	116					10																	7780626		2203	4300	6503	SO:0001583	missense	3698				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	g.chr10:7780626C>T	X07173	CCDS31141.1	10p14	2011-10-26	2011-10-26		ENSG00000151655	ENSG00000151655			6167	protein-coding gene	gene with protein product		146640	"inter-alpha (globulin) inhibitor, H2 polypeptide"			1385302, 10100603	Standard	NM_002216		Approved	H2P	uc001ijs.3	P19823	OTTHUMG00000017633	ENST00000358415.4:c.2000C>T	10.37:g.7780626C>T	ENSP00000351190:p.Pro667Leu					ITIH2_ENST00000379587.4_Missense_Mutation_p.P656L	p.P667L	NM_002216.2	NP_002207.2	P19823	ITIH2_HUMAN			16	2166	+			667					Q14659|Q15484|Q5T986	Missense_Mutation	SNP	ENST00000358415.4	37	c.2000C>T	CCDS31141.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.032778	0.75504	.	.	ENSG00000151655	ENST00000358415;ENST00000379587	T;T	0.01516	4.82;4.81	5.23	5.23	0.72850	.	0.558033	0.18234	N	0.147470	T	0.08133	0.0203	M	0.78916	2.43	0.80722	D	1	D	0.69078	0.997	P	0.55713	0.782	T	0.10314	-1.0635	10	0.41790	T	0.15	-14.2203	16.5895	0.84761	0.0:1.0:0.0:0.0	.	667	P19823	ITIH2_HUMAN	L	667;656	ENSP00000351190:P667L;ENSP00000368906:P656L	ENSP00000351190:P667L	P	+	2	0	ITIH2	7820632	0.987000	0.35691	0.408000	0.26446	0.053000	0.15095	3.986000	0.56937	2.451000	0.82905	0.556000	0.70494	CCG		0.527	ITIH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046678.2	NM_002216		27	36	0	0	0	1	0	27	36					T	7780626	C	T	7780626	3	4	147	1	0	0	0	0	1	0	0	0	7904	652	23	2	2062	2	ITIH2	10	7780626	Missense_Mutation	SNP	C	TCGA-FC-A8O0-01A-41D-A377-08		7780626	127754121	12	7285											
SLC22A9	114571	broad.mit.edu	37	chr11	63176239	63176239	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	taagtgtgtattctccacccCtgccctggatcatctatgga	8	13	8	12	0	3	0	1	0	2	0	4	2	3	2	4	2	1	1	4	2	3	4			TCGA-FC-A8O0-01A-41D-A377-08	TCGA-FC-A8O0-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79086298-47f2-4553-bf73-fc0572aebf2e	c3e0e54f-67a2-4cc7-9b98-51cd1fc1c318	g.chr11:63176239C>T	ENST00000279178.3	+	9	1738	c.1489C>T	c.(1489-1491)Ctg>Ttg	p.L497L	SLC22A9_ENST00000310969.4_3'UTR	NM_080866.2	NP_543142.2	Q8IVM8	S22A9_HUMAN	solute carrier family 22 (organic anion transporter), member 9	497					hormone transport (GO:0009914)|short-chain fatty acid import (GO:0015913)|sodium-independent organic anion transport (GO:0043252)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)	anion:anion antiporter activity (GO:0015301)|short-chain fatty acid uptake transporter activity (GO:0015636)|sodium-independent organic anion transmembrane transporter activity (GO:0015347)			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)	18						TTCTCCACCCCTGCCCTGGAT	0.507																																						ENST00000279178.3																			0				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)	18						c.(1489-1491)Ctg>Ttg		solute carrier family 22 (organic anion transporter), member 9							149	133	138					11																	63176239		2201	4298	6499	SO:0001819	synonymous_variant	114571				transmembrane transport	integral to membrane		g.chr11:63176239C>T	AP001880	CCDS8043.1	11q12.3	2014-05-20	2008-01-11		ENSG00000149742	ENSG00000149742		"Solute carriers"	16261	protein-coding gene	gene with protein product		607579				11327718, 17393504	Standard	NM_080866		Approved	OAT4, FLJ23666, UST3, OAT7	uc001nww.3	Q8IVM8	OTTHUMG00000167805	ENST00000279178.3:c.1489C>T	11.37:g.63176239C>T						SLC22A9_ENST00000310969.4_3'UTR	p.L497L	NM_080866.2	NP_543142.2	Q8IVM8	S22A9_HUMAN			9	1738	+			497					A0AVB7|A4PB24|Q8TCC8|Q8TEC0|Q8WYN7	Silent	SNP	ENST00000279178.3	37	c.1489C>T	CCDS8043.1																																																																																				0.507	SLC22A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396371.1	NM_080866		23	41	0	0	0	1	0	23	41					T	63176239	C	T	63176239	2	4	147	1	0	0	0	0	0	0	0	1	14461	680	24	3		3	SLC22A9	11	63176239	Silent	SNP	C	TCGA-FC-A8O0-01A-41D-A377-08		63176239	71830277	13	7286											
PARP11	57097	broad.mit.edu	37	chr12	3923277	3923277	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcagattgcttccacaaatTcactgctggtaccatgaaac	12	11	7	11	0	1	2	1	1	0	1	2	2	2	2	2	1	5	4	2	1	3	4			TCGA-FC-A8O0-01A-41D-A377-08	TCGA-FC-A8O0-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79086298-47f2-4553-bf73-fc0572aebf2e	c3e0e54f-67a2-4cc7-9b98-51cd1fc1c318	g.chr12:3923277T>A	ENST00000228820.4	-	7	770	c.626A>T	c.(625-627)gAa>gTa	p.E209V	PARP11_ENST00000427057.2_Missense_Mutation_p.E128V|PARP11_ENST00000447133.3_Missense_Mutation_p.E128V|PARP11_ENST00000476985.1_5'UTR|PARP11_ENST00000397096.2_Missense_Mutation_p.E202V	NM_020367.4	NP_065100.2	Q9NR21	PAR11_HUMAN	poly (ADP-ribose) polymerase family, member 11	202	PARP catalytic. {ECO:0000255|PROSITE- ProRule:PRU00397}.						NAD+ ADP-ribosyltransferase activity (GO:0003950)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)	17			all cancers(3;1.58e-07)|OV - Ovarian serous cystadenocarcinoma(31;0.00287)|GBM - Glioblastoma multiforme(3;0.0141)|COAD - Colon adenocarcinoma(12;0.0264)			TTCCACAAATTCACTGCTGGT	0.368																																						ENST00000228820.4																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)	17						c.(625-627)gAa>gTa		poly (ADP-ribose) polymerase family, member 11							149	141	144					12																	3923277		2203	4300	6503	SO:0001583	missense	57097						NAD+ ADP-ribosyltransferase activity	g.chr12:3923277T>A	AF263540	CCDS8523.2, CCDS66281.1	12p13.3	2014-01-28	2004-08-25	2004-08-26	ENSG00000111224	ENSG00000111224		"Poly (ADP-ribose) polymerases"	1186	protein-coding gene	gene with protein product			"chromosome 12 open reading frame 6"	C12orf6		15273990	Standard	NM_001286522		Approved		uc001qml.2	Q9NR21	OTTHUMG00000156442	ENST00000228820.4:c.626A>T	12.37:g.3923277T>A	ENSP00000228820:p.Glu209Val					PARP11_ENST00000476985.1_5'UTR|PARP11_ENST00000397096.2_Missense_Mutation_p.E202V|PARP11_ENST00000447133.3_Missense_Mutation_p.E128V|PARP11_ENST00000427057.2_Missense_Mutation_p.E128V	p.E209V	NM_020367.4	NP_065100.2	Q9NR21	PAR11_HUMAN	all cancers(3;1.58e-07)|OV - Ovarian serous cystadenocarcinoma(31;0.00287)|GBM - Glioblastoma multiforme(3;0.0141)|COAD - Colon adenocarcinoma(12;0.0264)		7	770	-			202			PARP catalytic.		B4DRQ0|Q68DS1|Q8N5Y9	Missense_Mutation	SNP	ENST00000228820.4	37	c.626A>T	CCDS8523.2	.	.	.	.	.	.	.	.	.	.	T	13.68	2.308258	0.40895	.	.	ENSG00000111224	ENST00000397096;ENST00000427057;ENST00000228820;ENST00000447133	T;T;T;T	0.15718	2.4;2.4;2.4;2.4	5.41	5.41	0.78517	Poly(ADP-ribose) polymerase, catalytic domain (2);	0.174859	0.56097	D	0.000040	T	0.12774	0.0310	L	0.31926	0.97	0.38990	D	0.959124	B;P;P	0.43826	0.243;0.782;0.818	B;B;B	0.39465	0.138;0.199;0.3	T	0.08868	-1.0701	10	0.32370	T	0.25	.	9.5081	0.39060	0.0:0.0:0.1775:0.8224	.	128;209;202	Q9NR21-2;Q9NR21-4;Q9NR21	.;.;PAR11_HUMAN	V	202;128;209;128	ENSP00000380284:E202V;ENSP00000397058:E128V;ENSP00000228820:E209V;ENSP00000405385:E128V	ENSP00000228820:E209V	E	-	2	0	PARP11	3793538	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.285000	0.58989	2.270000	0.75569	0.482000	0.46254	GAA		0.368	PARP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344213.1			8	55	0	0	0	1	0	8	55					A	3923277	T	A	3923277	3	1	147	1	0	0	0	0	1	0	0	0	11456	1783	62	5	398	5	PARP11	12	3923277	Missense_Mutation	SNP	T	TCGA-FC-A8O0-01A-41D-A377-08		3923277	129928618	14	7287											
DBX2	440097	broad.mit.edu	37	chr12	45417627	45417627	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcttcttaaaatgcccctccGagctttggaattagagtcct	9	14	7	11	1	2	1	0	0	2	1	4	3	4	2	4	1	2	1	4	1	4	4	rs368330243	byFrequency	TCGA-FC-A8O0-01A-41D-A377-08	TCGA-FC-A8O0-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79086298-47f2-4553-bf73-fc0572aebf2e	c3e0e54f-67a2-4cc7-9b98-51cd1fc1c318	g.chr12:45417627G>A	ENST00000332700.6	-	3	721	c.550C>T	c.(550-552)Cgg>Tgg	p.R184W		NM_001004329.2	NP_001004329.2	Q6ZNG2	DBX2_HUMAN	developing brain homeobox 2	184					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			endometrium(3)|kidney(1)|large_intestine(3)|lung(9)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	22	Lung SC(27;0.192)	Lung NSC(34;0.142)		GBM - Glioblastoma multiforme(48;0.0515)		ATGCCCCTCCGAGCTTTGGAA	0.433													G|||	4	0.000798722	0.0023	0	5008	,	,		19077	0.001		0	False		,,,				2504	0					ENST00000332700.6																			0				endometrium(3)|kidney(1)|large_intestine(3)|lung(9)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	22						c.(550-552)Cgg>Tgg		developing brain homeobox 2		G	TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	64	68	66		550	4.6	1	12		66	0,8600		0,0,4300	no	missense	DBX2	NM_001004329.2	101	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	184/340	45417627	1,13005	2203	4300	6503	SO:0001583	missense	440097					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr12:45417627G>A		CCDS31781.1	12q12	2011-06-20				ENSG00000185610		"Homeoboxes / ANTP class : NKL subclass"	33186	protein-coding gene	gene with protein product						11239429	Standard	NM_001004329		Approved	FLJ16139	uc001rok.1	Q6ZNG2	OTTHUMG00000169559	ENST00000332700.6:c.550C>T	12.37:g.45417627G>A	ENSP00000331470:p.Arg184Trp						p.R184W	NM_001004329.2	NP_001004329.2	Q6ZNG2	DBX2_HUMAN		GBM - Glioblastoma multiforme(48;0.0515)	3	721	-	Lung SC(27;0.192)	Lung NSC(34;0.142)	184						Missense_Mutation	SNP	ENST00000332700.6	37	c.550C>T	CCDS31781.1	.	.	.	.	.	.	.	.	.	.	G	19.94	3.919983	0.73098	2.27E-4	0.0	ENSG00000185610	ENST00000332700	D	0.95853	-3.83	5.49	4.59	0.56863	Homeodomain-related (1);Homeobox (1);Homeodomain-like (1);	0.114269	0.39985	N	0.001202	D	0.95784	0.8628	L	0.32530	0.975	0.54753	D	0.999982	D	0.89917	1.0	D	0.78314	0.991	D	0.96199	0.9144	10	0.87932	D	0	-18.5997	13.5055	0.61481	0.0:0.0:0.7159:0.2841	.	184	Q6ZNG2	DBX2_HUMAN	W	184	ENSP00000331470:R184W	ENSP00000331470:R184W	R	-	1	2	DBX2	43703894	1.000000	0.71417	0.999000	0.59377	0.962000	0.63368	3.167000	0.50793	1.318000	0.45170	-0.152000	0.13540	CGG		0.433	DBX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404810.1	NM_001004329		7	70	0	0	0	1	0	7	70					A	45417627	G	A	45417627	3	1	147	1	0	0	0	0	1	0	0	0	4260	1057	37	2	477	2	DBX2	12	45417627	Missense_Mutation	SNP	G	TCGA-FC-A8O0-01A-41D-A377-08	41494350	45417627	88434268	15	7288											
ARHGAP5	394	broad.mit.edu	37	chr14	32561297	32561297	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gaggctgatagcaaagaggtAtatggtaggcatcagcgaga	14	7	15	5	1	1	3	1	1	0	2	1	5	1	3	0	4	2	5	0	4	5	4			TCGA-FC-A8O0-01A-41D-A377-08	TCGA-FC-A8O0-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79086298-47f2-4553-bf73-fc0572aebf2e	c3e0e54f-67a2-4cc7-9b98-51cd1fc1c318	g.chr14:32561297A>G	ENST00000345122.3	+	2	1737	c.1422A>G	c.(1420-1422)gtA>gtG	p.V474V	ARHGAP5_ENST00000432921.1_Silent_p.V474V|ARHGAP5_ENST00000433497.1_Intron|ARHGAP5_ENST00000556611.1_Silent_p.V474V|ARHGAP5_ENST00000396582.2_Intron|ARHGAP5_ENST00000539826.2_Silent_p.V474V	NM_001030055.1	NP_001025226.1	Q13017	RHG05_HUMAN	Rho GTPase activating protein 5	474	FF 3.				cell adhesion (GO:0007155)|GTP catabolic process (GO:0006184)|mammary gland development (GO:0030879)|positive regulation of cell migration (GO:0030335)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell size (GO:0008361)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|Rho GTPase activator activity (GO:0005100)|SH2 domain binding (GO:0042169)			NS(2)|breast(10)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(12)|ovary(4)|skin(1)|stomach(1)|urinary_tract(4)	55	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00566)		GCAAAGAGGTATATGGTAGGC	0.373																																					NSCLC(9;77 350 3443 29227 41353)	ENST00000345122.3																			0				NS(2)|breast(10)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(12)|ovary(4)|skin(1)|stomach(1)|urinary_tract(4)	55						c.(1420-1422)gtA>gtG		Rho GTPase activating protein 5							74	76	75					14																	32561297		2203	4297	6500	SO:0001819	synonymous_variant	394				cell adhesion|Rho protein signal transduction	cytosol|membrane	GTP binding|GTPase activity|Rho GTPase activator activity|SH2 domain binding	g.chr14:32561297A>G	U17032	CCDS32062.1, CCDS45095.1	14q12	2010-02-05						"Rho GTPase activating proteins"	675	protein-coding gene	gene with protein product		602680	"growth factor independent 2"	GFI2		8537347	Standard	XM_005267635		Approved	RhoGAP5, p190-B, p190BRhoGAP	uc001wrn.3	Q13017		ENST00000345122.3:c.1422A>G	14.37:g.32561297A>G						ARHGAP5_ENST00000556611.1_Silent_p.V474V|ARHGAP5_ENST00000396582.2_Intron|ARHGAP5_ENST00000432921.1_Silent_p.V474V|ARHGAP5_ENST00000433497.1_Intron|ARHGAP5_ENST00000539826.2_Silent_p.V474V	p.V474V	NM_001030055.1	NP_001025226.1	Q13017	RHG05_HUMAN	LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00566)	2	1737	+	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186)		474			FF 3.		A1L375|A1L376|A8KAA1|D3DS89|D3DS90|Q05BE8|Q05BU8|Q59ER0|Q6DHZ3	Silent	SNP	ENST00000345122.3	37	c.1422A>G	CCDS32062.1																																																																																				0.373	ARHGAP5-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000409735.1	NM_001030055		3	70	0	0	0	1	0	3	70					G	32561297	A	G	32561297	2	3	147	1	0	0	0	0	0	0	0	1	886	436	16	4		4	ARHGAP5	14	32561297	Silent	SNP	A	TCGA-FC-A8O0-01A-41D-A377-08		32561297	74788243	16	7289											
KRT35	3886	broad.mit.edu	37	chr17	39635635	39635635	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcaggcagagcagctcctcCttcagggactccacctgggc	7	8	11	15	0	2	1	2	0	0	1	5	2	5	2	4	3	2	3	4	3	0	2			TCGA-FC-A8O0-01A-41D-A377-08	TCGA-FC-A8O0-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79086298-47f2-4553-bf73-fc0572aebf2e	c3e0e54f-67a2-4cc7-9b98-51cd1fc1c318	g.chr17:39635635C>T	ENST00000393989.1	-	3	717	c.675G>A	c.(673-675)aaG>aaA	p.K225K	KRT35_ENST00000246639.2_Silent_p.K195K	NM_002280.4	NP_002271.3	Q92764	KRT35_HUMAN	keratin 35	225	Coil 1B.|Rod.				anatomical structure morphogenesis (GO:0009653)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	29		Breast(137;0.000286)				GCAGCTCCTCCTTCAGGGACT	0.602																																						ENST00000246639.2																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	29						c.(583-585)aaG>aaA		keratin 35							102	98	99					17																	39635635		2203	4300	6503	SO:0001819	synonymous_variant	3886				anatomical structure morphogenesis	intermediate filament	protein binding|structural molecule activity	g.chr17:39635635C>T	X90762	CCDS11394.2	17q21.2	2013-01-16	2006-07-17	2006-07-17	ENSG00000197079	ENSG00000197079		"-", "Intermediate filaments type I, keratins (acidic)"	6453	protein-coding gene	gene with protein product	"hard keratin type I 5"	602764	"keratin, hair, acidic, 5"	KRTHA5		8823373, 16831889	Standard	NM_002280		Approved	Ha-5	uc002hws.3	Q92764	OTTHUMG00000133425	ENST00000393989.1:c.675G>A	17.37:g.39635635C>T						KRT35_ENST00000393989.1_Silent_p.K225K	p.K195K			Q92764	KRT35_HUMAN			3	717	-		Breast(137;0.000286)	225			Coil 1B.|Rod.		O76012|Q92651	Silent	SNP	ENST00000393989.1	37	c.585G>A	CCDS11394.2																																																																																				0.602	KRT35-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_002280		3	74	0	0	0	1	0	3	74					T	39635635	C	T	39635635	2	4	147	1	0	0	0	0	0	0	0	1	8472	680	24	3		3	KRT35	17	39635635	Silent	SNP	C	TCGA-FC-A8O0-01A-41D-A377-08		39635635	41559575	17	7290											
TTLL6	284076	broad.mit.edu	37	chr17	46862423	46862423	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaactgaagggcttcgcagaCgtcagcttggggaaaacaga	13	6	14	8	2	1	3	1	1	0	2	2	5	1	4	0	3	3	3	0	3	4	2	rs200226705		TCGA-FC-A8O0-01A-41D-A377-08	TCGA-FC-A8O0-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79086298-47f2-4553-bf73-fc0572aebf2e	c3e0e54f-67a2-4cc7-9b98-51cd1fc1c318	g.chr17:46862423C>T	ENST00000393382.3	-	13	2043	c.1902G>A	c.(1900-1902)acG>acA	p.T634T	TTLL6_ENST00000433608.2_Silent_p.T327T	NM_001130918.1	NP_001124390.1			tubulin tyrosine ligase-like family, member 6											endometrium(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2)	18						GCTTCGCAGACGTCAGCTTGG	0.527																																						ENST00000393382.3																			0				endometrium(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2)	18						c.(1900-1902)acG>acA		tubulin tyrosine ligase-like family, member 6							152	153	153					17																	46862423		2203	4300	6503	SO:0001819	synonymous_variant	284076					cilium|microtubule basal body	ATP binding|tubulin binding|tubulin-tyrosine ligase activity	g.chr17:46862423C>T	AK093127	CCDS11537.2, CCDS45724.1	17q21.32	2013-02-14			ENSG00000170703	ENSG00000170703		"Tubulin tyrosine ligase-like family"	26664	protein-coding gene	gene with protein product		610849				15890843	Standard	NM_173623		Approved	FLJ35808	uc021tzm.1	Q8N841	OTTHUMG00000156978	ENST00000393382.3:c.1902G>A	17.37:g.46862423C>T						TTLL6_ENST00000433608.2_Silent_p.T327T	p.T634T	NM_001130918.1	NP_001124390.1	Q8N841	TTLL6_HUMAN			13	2043	-			586						Silent	SNP	ENST00000393382.3	37	c.1902G>A	CCDS45724.1																																																																																				0.527	TTLL6-003	KNOWN	downstream_ATG|non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346939.3	NM_173623		4	108	0	0	0	1	0	4	108					T	46862423	C	T	46862423	2	4	147	1	0	0	0	0	0	0	0	1	16728	523	19	1		1	TTLL6	17	46862423	Silent	SNP	C	TCGA-FC-A8O0-01A-41D-A377-08	7226788	46862423	34332787	18	7291											
DYM	54808	broad.mit.edu	37	chr18	46783426	46783426	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	atggagagaacgaaactgtgCcgacatatttgctaaagctg	14	9	11	7	2	0	1	0	0	0	1	0	5	0	2	1	1	5	2	1	1	5	3			TCGA-FC-A8O0-01A-41D-A377-08	TCGA-FC-A8O0-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79086298-47f2-4553-bf73-fc0572aebf2e	c3e0e54f-67a2-4cc7-9b98-51cd1fc1c318	g.chr18:46783426C>T	ENST00000269445.6	-	13	1871	c.1414G>A	c.(1414-1416)Gca>Aca	p.A472T	DYM_ENST00000442713.2_Missense_Mutation_p.A282T	NM_017653.3	NP_060123.3	Q7RTS9	DYM_HUMAN	dymeclin	472					bone development (GO:0060348)|Golgi organization (GO:0007030)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)	enzyme binding (GO:0019899)			NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	18						CGAAACTGTGCCGACATATTT	0.393																																						ENST00000269445.6																			0				NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	18						c.(1414-1416)Gca>Aca		dymeclin							144	114	124					18																	46783426		2203	4300	6503	SO:0001583	missense	54808					Golgi apparatus		g.chr18:46783426C>T	AK000078	CCDS11937.1	18q21.1	2008-03-12			ENSG00000141627	ENSG00000141627			21317	protein-coding gene	gene with protein product		607461					Standard	NM_017653		Approved	FLJ20071, DMC, SMC	uc002ldi.1	Q7RTS9	OTTHUMG00000132659	ENST00000269445.6:c.1414G>A	18.37:g.46783426C>T	ENSP00000269445:p.Ala472Thr					DYM_ENST00000442713.2_Missense_Mutation_p.A282T	p.A472T	NM_017653.3	NP_060123.3	Q7RTS9	DYM_HUMAN			13	1871	-			472					A8K5I8|B2RCF9|B4DKI7|Q3ZTS8|Q6P2P5|Q8N2M0|Q9BVE9|Q9NPU7	Missense_Mutation	SNP	ENST00000269445.6	37	c.1414G>A	CCDS11937.1	.	.	.	.	.	.	.	.	.	.	C	27.8	4.867280	0.91511	.	.	ENSG00000141627	ENST00000418472;ENST00000442713;ENST00000269445	D;D	0.82984	-1.67;-1.67	5.54	4.66	0.58398	.	0.000000	0.85682	D	0.000000	D	0.90191	0.6934	M	0.77103	2.36	0.80722	D	1	P;D;P;P	0.67145	0.872;0.996;0.892;0.885	P;D;P;P	0.67382	0.495;0.951;0.61;0.589	D	0.91285	0.5054	10	0.72032	D	0.01	-11.3633	14.5907	0.68362	0.1476:0.8524:0.0:0.0	.	282;26;294;472	Q7RTS9-2;A5XEI3;Q9NXS9;Q7RTS9	.;.;.;DYM_HUMAN	T	77;282;472	ENSP00000395942:A282T;ENSP00000269445:A472T	ENSP00000269445:A472T	A	-	1	0	DYM	45037424	1.000000	0.71417	0.726000	0.30738	0.956000	0.61745	5.647000	0.67923	1.312000	0.45043	0.655000	0.94253	GCA		0.393	DYM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255912.3	NM_017653		27	34	0	0	0	1	0	27	34					T	46783426	C	T	46783426	3	4	147	1	0	0	0	0	1	0	0	0	4840	739	26	3	615	3	DYM	18	46783426	Missense_Mutation	SNP	C	TCGA-FC-A8O0-01A-41D-A377-08		46783426	31293822	19	7292											
AR	367	broad.mit.edu	37	chrX	66905872	66905872	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaaacagaagtacctgtgcGccagcagaaatgattgcact	14	7	11	9	1	0	3	0	1	0	2	0	4	0	4	2	1	5	3	2	1	4	2	rs137852569		TCGA-FC-A8O0-01A-41D-A377-08	TCGA-FC-A8O0-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79086298-47f2-4553-bf73-fc0572aebf2e	c3e0e54f-67a2-4cc7-9b98-51cd1fc1c318	g.chrX:66905872G>A	ENST00000374690.3	+	3	2313	c.1789G>A	c.(1789-1791)Gcc>Acc	p.A597T	AR_ENST00000396043.2_Missense_Mutation_p.A65T|AR_ENST00000513847.1_3'UTR|AR_ENST00000504326.1_Missense_Mutation_p.A597T|AR_ENST00000396044.3_Missense_Mutation_p.A597T	NM_000044.3	NP_000035.2	P10275	ANDR_HUMAN	androgen receptor	596	Interaction with HIPK3. {ECO:0000250}.|Interaction with LPXN.		S -> G (in PAIS; high dissociation rate; associated with P-617 in a PAIS patient; partially restores DNA-binding activity of P-617 mutant receptors). {ECO:0000269|PubMed:1316540}.|S -> T (in a patient with severe hypospadias). {ECO:0000269|PubMed:10092153}.		androgen receptor signaling pathway (GO:0030521)|cell death (GO:0008219)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of integrin biosynthetic process (GO:0045720)|positive regulation of cell proliferation (GO:0008284)|positive regulation of integrin biosynthetic process (GO:0045726)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of phosphorylation (GO:0042327)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland development (GO:0030850)|protein oligomerization (GO:0051259)|regulation of establishment of protein localization to plasma membrane (GO:0090003)|sex differentiation (GO:0007548)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transport (GO:0006810)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	androgen binding (GO:0005497)|androgen receptor activity (GO:0004882)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein dimerization activity (GO:0046983)|receptor binding (GO:0005102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|prostate(11)|stomach(2)|upper_aerodigestive_tract(3)	67	all_cancers(1;0.173)|Prostate(1;2.27e-16)|all_epithelial(1;0.102)	all_lung(315;1.3e-11)			Bicalutamide(DB01128)|Cyproterone acetate(DB04839)|Danazol(DB01406)|Drospirenone(DB01395)|Drostanolone(DB00858)|Enzalutamide(DB08899)|Fludrocortisone(DB00687)|Fluoxymesterone(DB01185)|Flutamide(DB00499)|Ketoconazole(DB01026)|Levonorgestrel(DB00367)|Methyltestosterone(DB06710)|Nandrolone decanoate(DB08804)|Nandrolone phenpropionate(DB00984)|Nilutamide(DB00665)|Oxandrolone(DB00621)|Spironolactone(DB00421)|Testosterone Propionate(DB01420)|Testosterone(DB00624)	GTACCTGTGCGCCAGCAGAAA	0.413									Androgen Insensitivity Syndrome																													ENST00000374690.3																			0				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|prostate(11)|stomach(2)|upper_aerodigestive_tract(3)	67	GRCh37	CM920071	AR	M	rs137852569	c.(1789-1791)Gcc>Acc		androgen receptor	Bicalutamide(DB01128)|Cyproterone(DB04839)|Dromostanolone(DB00858)|Finasteride(DB01216)|Fluoxymesterone(DB01185)|Flutamide(DB00499)|Nandrolone(DB00984)|Nilutamide(DB00665)|Oxandrolone(DB00621)|Testosterone(DB00624)						106	93	97					X																	66905872		2203	4300	6503	SO:0001583	missense	367	Androgen Insensitivity Syndrome	Familial Cancer Database	CAIS, Testicular Feminisation, AIS, Morris syndrome; incl. Reifenstein Syndrome	cell death|cell growth|cell proliferation|cell-cell signaling|negative regulation of apoptosis|negative regulation of integrin biosynthetic process|positive regulation of cell proliferation|positive regulation of integrin biosynthetic process|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|regulation of establishment of protein localization in plasma membrane|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transport	cytoplasm|nuclear chromatin|nucleoplasm	androgen binding|androgen receptor activity|beta-catenin binding|enzyme binding|ligand-regulated transcription factor activity|protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding	g.chrX:66905872G>A	M20132	CCDS14387.1, CCDS43965.1	Xq12	2013-01-16	2008-08-07		ENSG00000169083	ENSG00000169083		"Nuclear hormone receptors"	644	protein-coding gene	gene with protein product	"testicular feminization", "Kennedy disease"	313700	"dihydrotestosterone receptor", "spinal and bulbar muscular atrophy"	DHTR, SBMA		3353726, 3377788	Standard	NM_000044		Approved	AIS, NR3C4, SMAX1, HUMARA	uc004dwu.2	P10275	OTTHUMG00000021740	ENST00000374690.3:c.1789G>A	X.37:g.66905872G>A	ENSP00000363822:p.Ala597Thr					AR_ENST00000396044.3_Missense_Mutation_p.A597T|AR_ENST00000504326.1_Missense_Mutation_p.A597T|AR_ENST00000513847.1_3'UTR|AR_ENST00000396043.2_Missense_Mutation_p.A65T	p.A597T	NM_000044.3	NP_000035.2	P10275	ANDR_HUMAN			3	2313	+	all_cancers(1;0.173)|Prostate(1;2.27e-16)|all_epithelial(1;0.102)	all_lung(315;1.3e-11)	596		S -> G (in PAIS; high dissociation rate; associated with P-617 in a PAIS patient; partially restores DNA-binding activity of P-617 mutant receptors).|S -> T (in a patient with severe hypospadias).	Interaction with HIPK3 (By similarity).		A2RUN2|B1AKD7|Q9UD95	Missense_Mutation	SNP	ENST00000374690.3	37	c.1789G>A	CCDS14387.1	.	.	.	.	.	.	.	.	.	.	G	16.77	3.214457	0.58452	.	.	ENSG00000169083	ENST00000544984;ENST00000374690;ENST00000504326;ENST00000396044;ENST00000396043	D;D;D;D	0.97209	-4.29;-4.29;-4.29;-4.29	5.32	4.47	0.54385	Zinc finger, NHR/GATA-type (1);Zinc finger, nuclear hormone receptor-type (3);	0.000000	0.85682	D	0.000000	D	0.97155	0.9070	L	0.45352	1.415	0.80722	D	1	P;P;D;B	0.89917	0.881;0.881;1.0;0.343	B;B;D;B	0.97110	0.175;0.175;1.0;0.076	D	0.97171	0.9844	10	0.87932	D	0	.	10.6719	0.45764	0.0936:0.0:0.9064:0.0	.	597;597;65;596	E7EVX6;D3YPQ2;F1D8N5;P10275	.;.;.;ANDR_HUMAN	T	407;597;597;597;65	ENSP00000363822:A597T;ENSP00000421155:A597T;ENSP00000379359:A597T;ENSP00000379358:A65T	ENSP00000363822:A597T	A	+	1	0	AR	66822597	1.000000	0.71417	0.987000	0.45799	0.102000	0.19082	9.050000	0.93843	1.228000	0.43614	-0.306000	0.09157	GCC		0.413	AR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057007.1	NM_000044		26	8	0	0	0	1	0	26	8					A	66905872	G	A	66905872	3	1	147	1	0	0	0	0	1	0	0	0	836	1087	38	1	1823	1	AR	23	66905872	Missense_Mutation	SNP	G	TCGA-FC-A8O0-01A-41D-A377-08		66905872	88364688	20	7293											
CELSR2	1952	broad.mit.edu	37	chr1	109803688	109803688	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcactgtgaggtgagtgctcGctcaggccgttgcaccccgg	5	8	15	13	3	1	2	1	2	0	0	2	2	1	2	3	3	2	5	3	3	0	1			TCGA-G9-6329-01A-13D-1961-08	TCGA-G9-6329-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da75b98c-dc27-4169-b36b-136c6fbd2afe	9586dcd1-086c-4204-b6f8-2fd2965f1c22	g.chr1:109803688G>T	ENST00000271332.3	+	3	4044	c.3983G>T	c.(3982-3984)cGc>cTc	p.R1328L		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	1328	EGF-like 3; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				cerebrospinal fluid secretion (GO:0033326)|cilium assembly (GO:0042384)|cilium movement (GO:0003341)|dendrite morphogenesis (GO:0048813)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neural plate anterior/posterior regionalization (GO:0021999)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of cell-cell adhesion (GO:0022407)|regulation of protein localization (GO:0032880)|regulation of transcription, DNA-templated (GO:0006355)|ventricular system development (GO:0021591)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		GTGAGTGCTCGCTCAGGCCGT	0.597																																					NSCLC(158;1285 2011 34800 34852 42084)	ENST00000271332.3																			0				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82						c.(3982-3984)cGc>cTc		cadherin, EGF LAG seven-pass G-type receptor 2							80	75	77					1																	109803688		2203	4300	6503	SO:0001583	missense	1952				dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding	g.chr1:109803688G>T	D87469	CCDS796.1	1p13.3	2014-08-08	2013-02-18		ENSG00000143126	ENSG00000143126		"Cadherins / Major cadherins", "-", "GPCR / Class B : Orphans"	3231	protein-coding gene	gene with protein product		604265	"cadherin, EGF LAG seven-pass G-type receptor 2, flamingo (Drosophila) homolog"	EGFL2		9693030, 10907856	Standard	NM_001408		Approved	KIAA0279, MEGF3, Flamingo1, CDHF10	uc001dxa.4	Q9HCU4	OTTHUMG00000012003	ENST00000271332.3:c.3983G>T	1.37:g.109803688G>T	ENSP00000271332:p.Arg1328Leu						p.R1328L	NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)	3	4044	+		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)	1328			EGF-like 3; calcium-binding.		Q5T2Y7|Q92566	Missense_Mutation	SNP	ENST00000271332.3	37	c.3983G>T	CCDS796.1	.	.	.	.	.	.	.	.	.	.	G	29.7	5.028650	0.93518	.	.	ENSG00000143126	ENST00000271332	D	0.86627	-2.15	4.77	3.84	0.44239	EGF-like, laminin (1);Epidermal growth factor-like, type 3 (1);	.	.	.	.	D	0.91456	0.7303	M	0.87456	2.885	0.52501	D	0.999956	D	0.89917	1.0	D	0.70016	0.967	D	0.90687	0.4610	9	0.32370	T	0.25	.	13.486	0.61366	0.0764:0.0:0.9236:0.0	.	1328	Q9HCU4	CELR2_HUMAN	L	1328	ENSP00000271332:R1328L	ENSP00000271332:R1328L	R	+	2	0	CELSR2	109605211	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.554000	0.60760	1.203000	0.43233	0.561000	0.74099	CGC		0.597	CELSR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033200.1	NM_001408		6	96	1	0	5.18039e-06	0.00308	6.5087e-06	6	96					T	109803688	G	T	109803688	3	4	148	1	0	0	0	0	1	0	0	0	3222	1087	38	5	3993	5	CELSR2	1	109803688	Missense_Mutation	SNP	G	TCGA-G9-6329-01A-13D-1961-08		109803688	139446933	1	7294											
TTC13	79573	broad.mit.edu	37	chr1	231069565	231069565	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttatatgcatcaataaagtCaactttctgcttcaaagctt	13	16	4	8	0	4	0	3	0	1	0	4	0	4	0	0	0	4	3	0	0	7	7			TCGA-G9-6329-01A-13D-1961-08	TCGA-G9-6329-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da75b98c-dc27-4169-b36b-136c6fbd2afe	9586dcd1-086c-4204-b6f8-2fd2965f1c22	g.chr1:231069565C>A	ENST00000366661.4	-	9	950	c.943G>T	c.(943-945)Gac>Tac	p.D315Y	TTC13_ENST00000366662.4_Missense_Mutation_p.D262Y|TTC13_ENST00000414259.1_Missense_Mutation_p.D262Y	NM_024525.4	NP_078801.3	Q8NBP0	TTC13_HUMAN	tetratricopeptide repeat domain 13	315										central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	39	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.167)		COAD - Colon adenocarcinoma(196;0.243)		TCAATAAAGTCAACTTTCTGC	0.353																																						ENST00000366661.4																			0				central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	39						c.(943-945)Gac>Tac		tetratricopeptide repeat domain 13							71	75	73					1																	231069565		2203	4299	6502	SO:0001583	missense	79573						binding	g.chr1:231069565C>A		CCDS1588.1, CCDS44332.1, CCDS44332.2	1q42.2	2013-01-10			ENSG00000143643	ENSG00000143643		"Tetratricopeptide (TTC) repeat domain containing"	26204	protein-coding gene	gene with protein product							Standard	NM_024525		Approved	FLJ22584	uc001huf.4	Q8NBP0	OTTHUMG00000037788	ENST00000366661.4:c.943G>T	1.37:g.231069565C>A	ENSP00000355621:p.Asp315Tyr					TTC13_ENST00000366662.4_Missense_Mutation_p.D262Y|TTC13_ENST00000414259.1_Missense_Mutation_p.D262Y	p.D315Y	NM_024525.4	NP_078801.3	Q8NBP0	TTC13_HUMAN		COAD - Colon adenocarcinoma(196;0.243)	9	950	-	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.167)	315					B1AQI1|B1AQI2|Q8IVP8|Q8NBI0|Q8ND20	Missense_Mutation	SNP	ENST00000366661.4	37	c.943G>T	CCDS1588.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	24.4|24.4	4.528312|4.528312	0.85706|0.85706	.|.	.|.	ENSG00000143643|ENSG00000143643	ENST00000366661;ENST00000366662;ENST00000414259|ENST00000522821	T;T;T|.	0.62105|.	1.02;0.05;0.05|.	5.66|5.66	5.66|5.66	0.87406|0.87406	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.57755|0.57755	0.2075|0.2075	L|L	0.39245|0.39245	1.2|1.2	0.80722|0.80722	D|D	1|1	P;D;P;D|.	0.56287|.	0.922;0.968;0.919;0.975|.	P;P;P;P|.	0.57620|.	0.736;0.824;0.507;0.793|.	T|T	0.53258|0.53258	-0.8464|-0.8464	10|5	0.87932|.	D|.	0|.	-1.9201|-1.9201	13.0036|13.0036	0.58690|0.58690	0.0:0.9263:0.0:0.0737|0.0:0.9263:0.0:0.0737	.|.	240;262;262;315|.	Q69YR0;E9PGV4;Q8NBP0-2;Q8NBP0|.	.;.;.;TTC13_HUMAN|.	Y|F	315;262;262|174	ENSP00000355621:D315Y;ENSP00000355622:D262Y;ENSP00000416631:D262Y|.	ENSP00000355621:D315Y|.	D|L	-|-	1|3	0|2	TTC13|TTC13	229136188|229136188	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	5.727000|5.727000	0.68523|0.68523	2.657000|2.657000	0.90304|0.90304	0.563000|0.563000	0.77884|0.77884	GAC|TTG		0.353	TTC13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092229.2	NM_024525		9	98	1	0	0.00829132	0.008291	0.0096732	9	98					A	231069565	C	A	231069565	3	1	148	1	0	0	0	0	1	0	0	0	16677	826	29	5	1699	5	TTC13	1	231069565	Missense_Mutation	SNP	C	TCGA-G9-6329-01A-13D-1961-08	121265877	231069565	18181056	2	7295											
RAB3GAP1	22930	broad.mit.edu	37	chr2	135870798	135870798	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cagcgaatctaagtgcaaccTtcttctgagttctgtttcta	9	15	7	10	1	5	1	0	1	5	0	5	2	5	1	1	0	3	3	1	0	4	6			TCGA-G9-6329-01A-13D-1961-08	TCGA-G9-6329-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da75b98c-dc27-4169-b36b-136c6fbd2afe	9586dcd1-086c-4204-b6f8-2fd2965f1c22	g.chr2:135870798T>G	ENST00000264158.8	+	6	483	c.440T>G	c.(439-441)cTt>cGt	p.L147R	RAB3GAP1_ENST00000539493.1_Missense_Mutation_p.L103R|RAB3GAP1_ENST00000487003.1_3'UTR|RAB3GAP1_ENST00000442034.1_Missense_Mutation_p.L147R	NM_012233.2	NP_036365.1	Q15042	RB3GP_HUMAN	RAB3 GTPase activating protein subunit 1 (catalytic)	147					brain development (GO:0007420)|camera-type eye development (GO:0043010)|establishment of protein localization to endoplasmic reticulum membrane (GO:0097051)|face morphogenesis (GO:0060325)|hypothalamus development (GO:0021854)|lipid particle organization (GO:0034389)|positive regulation of endoplasmic reticulum tubular network organization (GO:1903373)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of Rab GTPase activity (GO:0032851)|regulation of calcium ion-dependent exocytosis of neurotransmitter (GO:1903233)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of GTPase activity (GO:0043087)|regulation of short-term neuronal synaptic plasticity (GO:0048172)	cytoplasm (GO:0005737)|endoplasmic reticulum tubular network (GO:0071782)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)	Rab GTPase activator activity (GO:0005097)|Rab GTPase binding (GO:0017137)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(10)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	32				BRCA - Breast invasive adenocarcinoma(221;0.117)		AAGTGCAACCTTCTTCTGAGT	0.398																																						ENST00000264158.8																			0				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(10)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	32						c.(439-441)cTt>cGt		RAB3 GTPase activating protein subunit 1 (catalytic)							170	153	159					2																	135870798		2203	4300	6503	SO:0001583	missense	22930					centrosome|nucleus|soluble fraction	Rab GTPase activator activity|Rab GTPase binding	g.chr2:135870798T>G	D31886	CCDS33294.1, CCDS54402.1	2q21.3	2013-07-09			ENSG00000115839	ENSG00000115839			17063	protein-coding gene	gene with protein product		602536				9030515, 15696165	Standard	NM_012233		Approved	RAB3GAP, KIAA0066, RAB3GAP130, WARBM1	uc010fnf.3	Q15042	OTTHUMG00000154889	ENST00000264158.8:c.440T>G	2.37:g.135870798T>G	ENSP00000264158:p.Leu147Arg					RAB3GAP1_ENST00000442034.1_Missense_Mutation_p.L147R|RAB3GAP1_ENST00000539493.1_Missense_Mutation_p.L103R|RAB3GAP1_ENST00000487003.1_3'UTR	p.L147R	NM_012233.2	NP_036365.1	Q15042	RB3GP_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.117)	6	483	+			147					A6H8Z3|C9J837|Q659F5|Q8TBB4	Missense_Mutation	SNP	ENST00000264158.8	37	c.440T>G	CCDS33294.1	.	.	.	.	.	.	.	.	.	.	T	21.2	4.120222	0.77323	.	.	ENSG00000115839	ENST00000264158;ENST00000539493;ENST00000442034	T;T;T	0.53640	0.65;0.61;0.65	5.12	3.94	0.45596	.	0.000000	0.85682	D	0.000000	T	0.63534	0.2519	M	0.69823	2.125	0.58432	D	0.999994	D;D	0.76494	0.999;0.999	D;D	0.69307	0.963;0.963	T	0.62205	-0.6903	10	0.39692	T	0.17	-16.2928	11.4543	0.50171	0.1351:0.0:0.0:0.8649	.	147;147	C9J837;Q15042	.;RB3GP_HUMAN	R	147;103;147	ENSP00000264158:L147R;ENSP00000444306:L103R;ENSP00000411418:L147R	ENSP00000264158:L147R	L	+	2	0	RAB3GAP1	135587268	1.000000	0.71417	1.000000	0.80357	0.933000	0.57130	7.601000	0.82783	0.870000	0.35726	0.260000	0.18958	CTT		0.398	RAB3GAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337514.2	NM_012233		16	111	0	0	0	0.00499	0	16	111					G	135870798	T	G	135870798	3	3	148	1	0	0	0	0	1	0	0	0	12935	1609	56	5	462	5	RAB3GAP1	2	135870798	Missense_Mutation	SNP	T	TCGA-G9-6329-01A-13D-1961-08		135870798	107328575	3	7296											
THSD7B	80731	broad.mit.edu	37	chr2	137814555	137814555	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cccatttcctgtcctcttggGgaagaggaatatacatttag	10	13	9	9	0	1	1	0	0	1	1	3	3	3	3	3	3	1	0	3	3	5	6			TCGA-G9-6329-01A-13D-1961-08	TCGA-G9-6329-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da75b98c-dc27-4169-b36b-136c6fbd2afe	9586dcd1-086c-4204-b6f8-2fd2965f1c22	g.chr2:137814555G>T	ENST00000409968.1	+	3	883	c.705G>T	c.(703-705)ggG>ggT	p.G235G	THSD7B_ENST00000543459.1_Silent_p.G94G|THSD7B_ENST00000272643.3_Silent_p.G235G|THSD7B_ENST00000413152.2_Silent_p.G204G			Q9C0I4	THS7B_HUMAN	thrombospondin, type I, domain containing 7B	235						integral component of membrane (GO:0016021)				NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		GTCCTCTTGGGGAAGAGGAAT	0.463																																						ENST00000409968.1																			0				NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134						c.(703-705)ggG>ggT		thrombospondin, type I, domain containing 7B							163	159	160					2																	137814555		1893	4132	6025	SO:0001819	synonymous_variant	80731							g.chr2:137814555G>T			2q22.1	2006-11-24			ENSG00000144229	ENSG00000144229			29348	protein-coding gene	gene with protein product						11214970	Standard	NM_001080427		Approved	KIAA1679	uc002tva.1	Q9C0I4	OTTHUMG00000153590	ENST00000409968.1:c.705G>T	2.37:g.137814555G>T						THSD7B_ENST00000413152.2_Silent_p.G204G|THSD7B_ENST00000543459.1_Silent_p.G94G|THSD7B_ENST00000272643.3_Silent_p.G235G	p.G235G						BRCA - Breast invasive adenocarcinoma(221;0.19)	3	883	+									Silent	SNP	ENST00000409968.1	37	c.705G>T																																																																																					0.463	THSD7B-001	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000331769.2	XM_046570.9		32	254	1	0	1.61788e-16	0.012213	2.1426e-16	32	254					T	137814555	G	T	137814555	2	4	148	1	0	0	0	0	0	0	0	1	15877	1219	43	5		5	THSD7B	2	137814555	Silent	SNP	G	TCGA-G9-6329-01A-13D-1961-08	1943757	137814555	105384818	4	7297											
ALS2CR8	79800	broad.mit.edu	37	chr2	203839140	203839140	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttttccaactgtaaatgataTaaaaaatcacatccatgagg	17	12	5	7	0	1	2	1	2	0	0	3	2	3	2	2	1	1	1	2	1	7	5			TCGA-G9-6329-01A-13D-1961-08	TCGA-G9-6329-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da75b98c-dc27-4169-b36b-136c6fbd2afe	9586dcd1-086c-4204-b6f8-2fd2965f1c22	g.chr2:203839140T>C	ENST00000402905.3	+	12	1736	c.1415T>C	c.(1414-1416)aTa>aCa	p.I472T	CARF_ENST00000320443.8_Missense_Mutation_p.I472T|CARF_ENST00000545253.1_Missense_Mutation_p.I384T|WDR12_ENST00000477723.1_Intron|CARF_ENST00000428585.1_Missense_Mutation_p.I396T|CARF_ENST00000545262.1_Missense_Mutation_p.I396T|CARF_ENST00000438828.2_Missense_Mutation_p.I472T|CARF_ENST00000414439.1_Missense_Mutation_p.I370T	NM_001104586.1|NM_001282910.1|NM_001282911.1|NM_001282912.1	NP_001098056.1|NP_001269839.1|NP_001269840.1|NP_001269841.1	Q8N187	CARTF_HUMAN	calcium responsive transcription factor	472					cellular response to calcium ion (GO:0071277)|cellular response to potassium ion (GO:0035865)|positive regulation of transcription from RNA polymerase II promoter in response to calcium ion (GO:0061400)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)										GTAAATGATATAAAAAATCAC	0.328																																						ENST00000320443.8																			0											c.(1414-1416)aTa>aCa		calcium responsive transcription factor							87	91	90					2																	203839140		1824	4070	5894	SO:0001583	missense	79800							g.chr2:203839140T>C	AB053309	CCDS42801.1, CCDS63091.1	2q33.3	2013-06-12	2013-06-12	2013-06-12	ENSG00000138380	ENSG00000138380			14435	protein-coding gene	gene with protein product	"calcium-response factor"	607586	"amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 8"	ALS2CR8		11586298, 11832226	Standard	XM_005246858		Approved	FLJ21579, CaRF, NYD-SP24	uc002uzo.2	Q8N187	OTTHUMG00000154528	ENST00000402905.3:c.1415T>C	2.37:g.203839140T>C	ENSP00000384006:p.Ile472Thr					CARF_ENST00000414439.1_Missense_Mutation_p.I370T|CARF_ENST00000402905.2_Missense_Mutation_p.I472T|CARF_ENST00000545262.1_Missense_Mutation_p.I396T|WDR12_ENST00000477723.1_Intron|CARF_ENST00000428585.1_Missense_Mutation_p.I396T|CARF_ENST00000438828.2_Missense_Mutation_p.I472T|CARF_ENST00000545253.1_Missense_Mutation_p.I384T	p.I472T							12	2458	+								B4E1W7|G3V1K7|Q8ND29|Q8WXC0|Q96J78|Q96Q38|Q96Q39|Q9H712	Missense_Mutation	SNP	ENST00000402905.3	37	c.1415T>C	CCDS42801.1	.	.	.	.	.	.	.	.	.	.	T	20.8	4.046323	0.75846	.	.	ENSG00000138380	ENST00000402905;ENST00000414439;ENST00000428585;ENST00000545253;ENST00000545262;ENST00000320443;ENST00000438828	.	.	.	5.04	5.04	0.67666	.	0.189532	0.42548	D	0.000690	T	0.67924	0.2945	M	0.71581	2.175	0.36789	D	0.88475	P;P;P	0.45827	0.642;0.867;0.642	P;P;P	0.51777	0.58;0.679;0.557	T	0.77664	-0.2503	9	0.87932	D	0	-7.4137	14.2623	0.66092	0.0:0.0:0.0:1.0	.	384;396;472	B4DIA7;G3V1K7;Q8N187	.;.;AL2S8_HUMAN	T	472;370;396;384;396;472;472	.	ENSP00000316224:I472T	I	+	2	0	ALS2CR8	203547385	1.000000	0.71417	0.996000	0.52242	0.977000	0.68977	5.922000	0.70036	2.018000	0.59344	0.455000	0.32223	ATA		0.328	CARF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335768.5	NM_001104586		8	65	0	0	0	0.00308	0	8	65					C	203839140	T	C	203839140	3	2	148	1	0	0	0	0	1	0	0	0	555	1406	49	4	1453	4	ALS2CR8	2	203839140	Missense_Mutation	SNP	T	TCGA-G9-6329-01A-13D-1961-08	66024585	203839140	39360233	5	7298											
ATIC	471	broad.mit.edu	37	chr2	216177305	216177305	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tttgaatctggtcgcttccgGagggactgcaaaagctctca	9	11	11	10	2	2	1	1	1	2	0	5	3	3	3	1	3	2	3	1	3	3	2			TCGA-G9-6329-01A-13D-1961-08	TCGA-G9-6329-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da75b98c-dc27-4169-b36b-136c6fbd2afe	9586dcd1-086c-4204-b6f8-2fd2965f1c22	g.chr2:216177305G>A	ENST00000236959.9	+	2	430	c.104G>A	c.(103-105)gGa>gAa	p.G35E	ATIC_ENST00000435675.1_Missense_Mutation_p.G34E|ATIC_ENST00000540518.1_5'UTR	NM_004044.6	NP_004035.2	P31939	PUR9_HUMAN	5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase	35					'de novo' IMP biosynthetic process (GO:0006189)|brainstem development (GO:0003360)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|dihydrofolate metabolic process (GO:0046452)|nucleobase-containing compound metabolic process (GO:0006139)|nucleobase-containing small molecule metabolic process (GO:0055086)|nucleoside metabolic process (GO:0009116)|organ regeneration (GO:0031100)|purine nucleobase metabolic process (GO:0006144)|purine ribonucleoside monophosphate biosynthetic process (GO:0009168)|response to inorganic substance (GO:0010035)|small molecule metabolic process (GO:0044281)|tetrahydrofolate biosynthetic process (GO:0046654)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)	IMP cyclohydrolase activity (GO:0003937)|phosphoribosylaminoimidazolecarboxamide formyltransferase activity (GO:0004643)|protein homodimerization activity (GO:0042803)		ATIC/ALK(24)	large_intestine(2)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	8		Renal(323;0.229)		Epithelial(149;2.02e-06)|all cancers(144;0.000316)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.0097)	Methotrexate(DB00563)|Pemetrexed(DB00642)|Tetrahydrofolic acid(DB00116)	GTCGCTTCCGGAGGGACTGCA	0.473			T	ALK	ALCL																																	ENST00000435675.1				Dom	yes		2	2q35	471	T	5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase			L	ALK		ALCL	ATIC/ALK(24)	0				large_intestine(2)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	8						c.(100-102)gGa>gAa		5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase	Tetrahydrofolic acid(DB00116)						86	85	86					2																	216177305		2203	4300	6503	SO:0001583	missense	471				IMP biosynthetic process|purine base metabolic process	cytosol	IMP cyclohydrolase activity|phosphoribosylaminoimidazolecarboxamide formyltransferase activity|protein homodimerization activity	g.chr2:216177305G>A		CCDS2398.1	2q35	2010-04-27			ENSG00000138363	ENSG00000138363	2.1.2.3, 3.5.4.10		794	protein-coding gene	gene with protein product	"phosphoribosylaminoimidazolecarboxamide formyltransferase/IMP cyclohydrolase"	601731				8567683, 9378707	Standard	NM_004044		Approved	PURH, AICARFT, IMPCHASE	uc002vex.4	P31939	OTTHUMG00000133023	ENST00000236959.9:c.104G>A	2.37:g.216177305G>A	ENSP00000236959:p.Gly35Glu					ATIC_ENST00000236959.9_Missense_Mutation_p.G35E|ATIC_ENST00000540518.1_5'UTR	p.G34E			P31939	PUR9_HUMAN		Epithelial(149;2.02e-06)|all cancers(144;0.000316)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.0097)	1	492	+		Renal(323;0.229)	35					A8K202|E9PBU3|Q13856|Q53S28	Missense_Mutation	SNP	ENST00000236959.9	37	c.101G>A	CCDS2398.1	.	.	.	.	.	.	.	.	.	.	G	34	5.382004	0.95967	.	.	ENSG00000138363	ENST00000236959;ENST00000435675	D;D	0.82711	-1.64;-1.64	5.41	5.41	0.78517	Methylglyoxal synthase-like domain (4);	0.053204	0.85682	D	0.000000	D	0.93006	0.7774	M	0.89534	3.04	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.94135	0.7392	10	0.87932	D	0	-18.1947	18.8107	0.92057	0.0:0.0:1.0:0.0	.	34;35	E9PBU3;P31939	.;PUR9_HUMAN	E	35;34	ENSP00000236959:G35E;ENSP00000415935:G34E	ENSP00000236959:G35E	G	+	2	0	ATIC	215885550	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	8.103000	0.89550	2.544000	0.85801	0.655000	0.94253	GGA		0.473	ATIC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256610.1	NM_004044		20	84	0	0	0	0.008871	0	20	84					A	216177305	G	A	216177305	3	1	148	1	0	0	0	0	1	0	0	0	1105	1174	41	3	110	3	ATIC	2	216177305	Missense_Mutation	SNP	G	TCGA-G9-6329-01A-13D-1961-08	12338165	216177305	27022068	6	7299											
ZBTB11	27107	broad.mit.edu	37	chr3	101384241	101384241	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cagctatacatcctactgatGacagggcagattcagcctct	11	10	8	12	0	2	3	1	2	1	1	3	3	3	3	2	1	4	2	2	1	3	4			TCGA-G9-6329-01A-13D-1961-08	TCGA-G9-6329-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da75b98c-dc27-4169-b36b-136c6fbd2afe	9586dcd1-086c-4204-b6f8-2fd2965f1c22	g.chr3:101384241G>C	ENST00000312938.4	-	4	1770	c.1190C>G	c.(1189-1191)tCa>tGa	p.S397*		NM_014415.3	NP_055230.2	O95625	ZBT11_HUMAN	zinc finger and BTB domain containing 11	397					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						TCCTACTGATGACAGGGCAGA	0.438																																						ENST00000312938.4																			0				breast(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						c.(1189-1191)tCa>tGa		zinc finger and BTB domain containing 11							84	86	85					3																	101384241		2203	4300	6503	SO:0001587	stop_gained	27107				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr3:101384241G>C	U69274	CCDS2943.1	3q12.3	2013-01-09			ENSG00000066422	ENSG00000066422		"-", "BTB/POZ domain containing", "Zinc fingers, C2H2-type"	16740	protein-coding gene	gene with protein product							Standard	NM_014415		Approved	ZNF-U69274, ZNF913	uc003dve.4	O95625	OTTHUMG00000159133	ENST00000312938.4:c.1190C>G	3.37:g.101384241G>C	ENSP00000326200:p.Ser397*						p.S397*	NM_014415.3	NP_055230.2	O95625	ZBT11_HUMAN			4	1770	-			397					Q2NKP9	Nonsense_Mutation	SNP	ENST00000312938.4	37	c.1190C>G	CCDS2943.1	.	.	.	.	.	.	.	.	.	.	G	37	6.621083	0.97714	.	.	ENSG00000066422	ENST00000312938	.	.	.	4.87	4.87	0.63330	.	0.482216	0.20981	N	0.082214	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.51188	T	0.08	-0.6623	16.3246	0.82970	0.0:0.0:1.0:0.0	.	.	.	.	X	397	.	ENSP00000326200:S397X	S	-	2	0	ZBTB11	102866931	0.169000	0.23002	0.017000	0.16124	0.174000	0.22865	3.130000	0.50508	2.635000	0.89317	0.655000	0.94253	TCA		0.438	ZBTB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353441.2	NM_014415		13	106	0	0	0	0.013537	0	13	106					C	101384241	G	C	101384241	4	2	148	1	0	0	0	0	0	1	0	0	17521	1294	45	5	2003	5	ZBTB11	3	101384241	Nonsense_Mutation	SNP	G	TCGA-G9-6329-01A-13D-1961-08		101384241	96638189	7	7300											
EDNRA	1909	broad.mit.edu	37	chr4	148407185	148407185	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaggaatggccccaacgcgCtgatagccagtcttgccctt	8	9	11	13	2	1	2	0	2	1	0	1	3	1	3	4	2	3	1	4	2	3	3			TCGA-G9-6329-01A-13D-1961-08	TCGA-G9-6329-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da75b98c-dc27-4169-b36b-136c6fbd2afe	9586dcd1-086c-4204-b6f8-2fd2965f1c22	g.chr4:148407185C>T	ENST00000324300.5	+	2	867	c.352C>T	c.(352-354)Ctg>Ttg	p.L118L	EDNRA_ENST00000511804.1_Intron|EDNRA_ENST00000339690.5_Silent_p.L118L|EDNRA_ENST00000506066.1_Silent_p.L118L|EDNRA_ENST00000358556.4_Silent_p.L118L	NM_001957.3	NP_001948.1	P25101	EDNRA_HUMAN	endothelin receptor type A	118					activation of adenylate cyclase activity (GO:0007190)|activation of phospholipase C activity (GO:0007202)|aging (GO:0007568)|artery smooth muscle contraction (GO:0014824)|cell proliferation (GO:0008283)|cellular response to mechanical stimulus (GO:0071260)|endothelin receptor signaling pathway (GO:0086100)|enteric nervous system development (GO:0048484)|fibroblast proliferation (GO:0048144)|G-protein coupled receptor signaling pathway (GO:0007186)|glomerular filtration (GO:0003094)|glucose transport (GO:0015758)|head development (GO:0060322)|heart development (GO:0007507)|histamine secretion (GO:0001821)|in utero embryonic development (GO:0001701)|maternal process involved in parturition (GO:0060137)|metabolic process (GO:0008152)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cAMP biosynthetic process (GO:0030818)|neural crest cell development (GO:0014032)|patterning of blood vessels (GO:0001569)|penile erection (GO:0043084)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of inflammatory response (GO:0050729)|positive regulation of kidney development (GO:0090184)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of odontogenesis (GO:0042482)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of blood pressure (GO:0008217)|regulation of epithelial cell proliferation (GO:0050678)|respiratory gaseous exchange (GO:0007585)|response to hypoxia (GO:0001666)|response to lipopolysaccharide (GO:0032496)|response to morphine (GO:0043278)|Rho protein signal transduction (GO:0007266)|sensory perception of pain (GO:0019233)|signal transduction (GO:0007165)|smooth muscle cell proliferation (GO:0048659)|smooth muscle contraction (GO:0006939)|vasoconstriction (GO:0042310)	integral component of plasma membrane (GO:0005887)|nuclear membrane (GO:0031965)|plasma membrane (GO:0005886)|T-tubule (GO:0030315)	endothelin receptor activity (GO:0004962)|phosphatidylinositol phospholipase C activity (GO:0004435)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(3)|ovary(1)	17	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.154)	Acetylsalicylic acid(DB00945)|Bosentan(DB00559)|MACITENTAN(DB08932)|Sitaxentan(DB06268)	CCCCAACGCGCTGATAGCCAG	0.418																																						ENST00000324300.5																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(3)|ovary(1)	17						c.(352-354)Ctg>Ttg		endothelin receptor type A	Bosentan(DB00559)						115	107	110					4																	148407185		2203	4300	6503	SO:0001819	synonymous_variant	1909				activation of adenylate cyclase activity|artery smooth muscle contraction|cell proliferation|glucose transport|respiratory gaseous exchange	integral to plasma membrane	endothelin-A receptor activity|phosphatidylinositol phospholipase C activity	g.chr4:148407185C>T	D90348	CCDS3769.1, CCDS54810.1, CCDS58927.1	4q31.22	2013-09-20			ENSG00000151617	ENSG00000151617		"GPCR / Class A : Endothelin receptors"	3179	protein-coding gene	gene with protein product		131243				1659806	Standard	NM_001957		Approved		uc003iky.3	P25101	OTTHUMG00000161354	ENST00000324300.5:c.352C>T	4.37:g.148407185C>T						EDNRA_ENST00000511804.1_Intron|EDNRA_ENST00000339690.5_Silent_p.L118L|EDNRA_ENST00000358556.4_Silent_p.L118L|EDNRA_ENST00000506066.1_Silent_p.L118L	p.L118L	NM_001957.3	NP_001948.1	P25101	EDNRA_HUMAN		GBM - Glioblastoma multiforme(119;0.154)	2	867	+	all_hematologic(180;0.151)		118					B2R723|B4E2V6|B7Z9G6|D3DP03|E7ER36|O43441|Q16432|Q16433|Q8TBH2	Silent	SNP	ENST00000324300.5	37	c.352C>T	CCDS3769.1																																																																																				0.418	EDNRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364635.1			15	86	0	0	0	0.00245	0	15	86					T	148407185	C	T	148407185	2	4	148	1	0	0	0	0	0	0	0	1	4919	796	28	3		3	EDNRA	4	148407185	Silent	SNP	C	TCGA-G9-6329-01A-13D-1961-08		148407185	42747091	8	7301											
WDR17	116966	broad.mit.edu	37	chr4	177058761	177058761	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aattatacaacgatttaatgAggtaagatttatttattgct	15	17	6	3	1	0	2	0	1	0	1	0	3	0	2	0	1	3	2	0	1	8	10			TCGA-G9-6329-01A-13D-1961-08	TCGA-G9-6329-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da75b98c-dc27-4169-b36b-136c6fbd2afe	9586dcd1-086c-4204-b6f8-2fd2965f1c22	g.chr4:177058761A>G	ENST00000280190.4	+	10	1586	c.1430A>G	c.(1429-1431)gAg>gGg	p.E477G	WDR17_ENST00000508596.1_Splice_Site_p.E453G|WDR17_ENST00000393643.2_Splice_Site_p.E453G|WDR17_ENST00000507824.2_Splice_Site_p.E460G			Q8IZU2	WDR17_HUMAN	WD repeat domain 17	477										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(18)|lung(46)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	92		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)		CGATTTAATGAGGTAAGATTT	0.249																																						ENST00000393643.2																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(18)|lung(46)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	92						c.e9+1		WD repeat domain 17							59	62	61					4																	177058761		2201	4293	6494	SO:0001630	splice_region_variant	116966							g.chr4:177058761A>G	AF492460	CCDS3825.1, CCDS43284.1, CCDS43284.2	4q34	2013-01-09			ENSG00000150627	ENSG00000150627		"WD repeat domain containing"	16661	protein-coding gene	gene with protein product		609005				12401215	Standard	NM_170710		Approved		uc003iuj.3	Q8IZU2	OTTHUMG00000160791	ENST00000280190.4:c.1431+1A>G	4.37:g.177058761A>G						WDR17_ENST00000507824.2_Splice_Site_p.E460_splice|WDR17_ENST00000508596.1_Splice_Site_p.E453_splice|WDR17_ENST00000280190.4_Splice_Site_p.E477_splice	p.E453_splice	NM_170710.4	NP_733828.2	Q8IZU2	WDR17_HUMAN		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)	9	1610	+		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)	477					E7EQX0|Q0QD35	Splice_Site	SNP	ENST00000280190.4	37	c.1359_splice	CCDS3825.1	.	.	.	.	.	.	.	.	.	.	A	23.6	4.440224	0.83993	.	.	ENSG00000150627	ENST00000508596;ENST00000393643;ENST00000280190;ENST00000507824	T;T;T	0.60299	3.87;0.2;3.87	5.32	5.32	0.75619	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.65112	0.2660	L	0.31420	0.93	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.63129	-0.6706	10	0.31617	T	0.26	-22.0046	15.5766	0.76397	1.0:0.0:0.0:0.0	.	453;477	E7EQX0;Q8IZU2	.;WDR17_HUMAN	G	453;453;477;460	ENSP00000422763:E453G;ENSP00000377258:E453G;ENSP00000280190:E477G	ENSP00000280190:E477G	E	+	2	0	WDR17	177295755	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	7.899000	0.87370	2.138000	0.66242	0.533000	0.62120	GAG		0.249	WDR17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362334.2		Missense_Mutation	5	52	0	0	0	0.000602	0	5	52					G	177058761	A	G	177058761	5	3	148	1	0	0	0	0	0	0	1	0	17274	318	11	4	1464	4	WDR17	4	177058761	Splice_Site	SNP	A	TCGA-G9-6329-01A-13D-1961-08	28651576	177058761	14095515	9	7302											
TRIO	7204	broad.mit.edu	37	chr5	14504503	14504503	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cccctgacatattttacaggGgcagattctctgtcgttaag	9	13	9	10	1	1	2	0	1	1	1	3	2	1	2	2	2	1	2	2	2	3	5			TCGA-G9-6329-01A-13D-1961-08	TCGA-G9-6329-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da75b98c-dc27-4169-b36b-136c6fbd2afe	9586dcd1-086c-4204-b6f8-2fd2965f1c22	g.chr5:14504503G>A	ENST00000344204.4	+	55	8437	c.8413G>A	c.(8413-8415)Ggc>Agc	p.G2805S	TRIO_ENST00000537187.1_Splice_Site_p.G2629S|TRIO_ENST00000344135.5_Splice_Site_p.G304S	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	2805	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	cytosol (GO:0005829)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					ATTTTACAGGGGCAGATTCTC	0.502																																						ENST00000344204.4																			0				NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118						c.e55-1		trio Rho guanine nucleotide exchange factor							65	70	68					5																	14504503		2203	4300	6503	SO:0001630	splice_region_variant	7204				apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity	g.chr5:14504503G>A	AF091395	CCDS3883.1	5p14-p15.1	2013-01-11	2012-07-12		ENSG00000038382	ENSG00000038382		"Rho guanine nucleotide exchange factors", "Immunoglobulin superfamily / I-set domain containing"	12303	protein-coding gene	gene with protein product		601893	"triple functional domain (PTPRF interacting)"			8643598	Standard	NM_007118		Approved	ARHGEF23	uc003jff.3	O75962	OTTHUMG00000131057	ENST00000344204.4:c.8412-1G>A	5.37:g.14504503G>A						TRIO_ENST00000537187.1_Splice_Site_p.G2629_splice|TRIO_ENST00000344135.5_Splice_Site_p.G304_splice	p.G2805_splice	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN			55	8437	+	Lung NSC(4;0.000742)		2805			Protein kinase.		D3DTD1|Q13458|Q59EQ7|Q6PJC9|Q6ZN05|Q8IWK8	Splice_Site	SNP	ENST00000344204.4	37	c.8411_splice	CCDS3883.1	.	.	.	.	.	.	.	.	.	.	G	31	5.092582	0.94149	.	.	ENSG00000038382	ENST00000344204;ENST00000537187;ENST00000344135	D;D;D	0.90676	-2.71;-2.71;-2.71	5.38	5.38	0.77491	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.97117	0.9058	H	0.96142	3.775	0.46222	D	0.998932	D	0.89917	1.0	D	0.97110	1.0	D	0.98225	1.0480	10	0.87932	D	0	.	19.1195	0.93357	0.0:0.0:1.0:0.0	.	2805	O75962	TRIO_HUMAN	S	2805;2629;304	ENSP00000339299:G2805S;ENSP00000446348:G2629S;ENSP00000339291:G304S	ENSP00000339291:G304S	G	+	1	0	TRIO	14557503	1.000000	0.71417	1.000000	0.80357	0.723000	0.41478	9.441000	0.97557	2.515000	0.84797	0.491000	0.48974	GGC		0.502	TRIO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253711.2	NM_007118	Missense_Mutation	6	85	0	0	0	0.001984	0	6	85					A	14504503	G	A	14504503	5	1	148	1	0	0	0	0	0	0	1	0	16549	1246	43	3	8631	3	TRIO	5	14504503	Splice_Site	SNP	G	TCGA-G9-6329-01A-13D-1961-08		14504503	166410757	10	7303											
NMUR2	56923	broad.mit.edu	37	chr5	151784352	151784352	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cgaacaagaaagggtagttgCgccacatctcatagacctcc	13	7	9	12	2	1	2	1	0	1	2	3	3	2	2	3	1	2	2	3	1	5	3	rs368505984		TCGA-G9-6329-01A-13D-1961-08	TCGA-G9-6329-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da75b98c-dc27-4169-b36b-136c6fbd2afe	9586dcd1-086c-4204-b6f8-2fd2965f1c22	g.chr5:151784352C>T	ENST00000255262.3	-	1	488	c.323G>A	c.(322-324)cGc>cAc	p.R108H	NMUR2_ENST00000518933.1_Intron	NM_020167.4	NP_064552.3	Q9GZQ4	NMUR2_HUMAN	neuromedin U receptor 2	108					activation of phospholipase A2 activity by calcium-mediated signaling (GO:0043006)|arachidonic acid secretion (GO:0050482)|calcium ion transport (GO:0006816)|calcium-mediated signaling (GO:0019722)|cell-cell signaling (GO:0007267)|central nervous system development (GO:0007417)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|feeding behavior (GO:0007631)|grooming behavior (GO:0007625)|inositol phosphate-mediated signaling (GO:0048016)|neuropeptide signaling pathway (GO:0007218)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|reduction of food intake in response to dietary excess (GO:0002023)|regulation of smooth muscle contraction (GO:0006940)|response to pain (GO:0048265)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|GTP binding (GO:0005525)|intracellular calcium activated chloride channel activity (GO:0005229)|neuromedin U binding (GO:0042924)|neuromedin U receptor activity (GO:0001607)			breast(1)|endometrium(1)|kidney(2)|large_intestine(12)|liver(1)|lung(15)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	44		Medulloblastoma(196;0.091)|all_hematologic(541;0.103)	Kidney(363;0.000106)|KIRC - Kidney renal clear cell carcinoma(527;0.000672)			AGGGTAGTTGCGCCACATCTC	0.587																																						ENST00000255262.3																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(12)|liver(1)|lung(15)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	44						c.(322-324)cGc>cAc		neuromedin U receptor 2		C	HIS/ARG	2,4404	4.2+/-10.8	0,2,2201	89	94	92		323	-2.8	1	5		92	0,8600		0,0,4300	no	missense	NMUR2	NM_020167.4	29	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	benign	108/416	151784352	2,13004	2203	4300	6503	SO:0001583	missense	56923				activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|arachidonic acid secretion|calcium ion transport|central nervous system development|elevation of cytosolic calcium ion concentration|regulation of smooth muscle contraction	integral to membrane|plasma membrane	GTP binding|intracellular calcium activated chloride channel activity|neuromedin U receptor activity	g.chr5:151784352C>T	AF242874	CCDS4321.1	5q33.1	2012-08-08		2004-05-28	ENSG00000132911	ENSG00000132911		"GPCR / Class A : Neuromedin U receptors"	16454	protein-coding gene	gene with protein product		605108		NMU2R		8940772, 10894543	Standard	NM_020167		Approved		uc003luv.2	Q9GZQ4	OTTHUMG00000130131	ENST00000255262.3:c.323G>A	5.37:g.151784352C>T	ENSP00000255262:p.Arg108His					NMUR2_ENST00000518933.1_Intron	p.R108H	NM_020167.4	NP_064552.3	Q9GZQ4	NMUR2_HUMAN	Kidney(363;0.000106)|KIRC - Kidney renal clear cell carcinoma(527;0.000672)		1	488	-		Medulloblastoma(196;0.091)|all_hematologic(541;0.103)	108					Q7LC54|Q96AM5|Q9NRA6	Missense_Mutation	SNP	ENST00000255262.3	37	c.323G>A	CCDS4321.1	.	.	.	.	.	.	.	.	.	.	C	8.164	0.790184	0.16258	4.54E-4	0.0	ENSG00000132911	ENST00000255262	T	0.37058	1.22	5.54	-2.77	0.05877	GPCR, rhodopsin-like superfamily (1);	0.631366	0.15933	N	0.237584	T	0.16041	0.0386	N	0.11154	0.105	0.21064	N	0.999792	B	0.13145	0.007	B	0.04013	0.001	T	0.28618	-1.0038	10	0.14252	T	0.57	-3.716	12.1639	0.54119	0.0:0.4542:0.0:0.5458	.	108	Q9GZQ4	NMUR2_HUMAN	H	108	ENSP00000255262:R108H	ENSP00000255262:R108H	R	-	2	0	NMUR2	151764545	0.964000	0.33143	0.962000	0.40283	0.984000	0.73092	0.152000	0.16302	-0.460000	0.07003	-0.136000	0.14681	CGC		0.587	NMUR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252439.1	NM_020167		19	149	0	0	0	0.007413	0	19	149					T	151784352	C	T	151784352	3	4	148	1	0	0	0	0	1	0	0	0	10507	768	27	1	940	1	NMUR2	5	151784352	Missense_Mutation	SNP	C	TCGA-G9-6329-01A-13D-1961-08	137279849	151784352	29130908	11	7304											
F12	2161	broad.mit.edu	37	chr5	176830536	176830536	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctcgtgcaagcggtaggagcGcacggccaacgtctggcacg	8	5	15	13	6	1	0	0	0	1	0	2	1	1	1	1	4	4	4	1	4	3	1			TCGA-G9-6329-01A-13D-1961-08	TCGA-G9-6329-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da75b98c-dc27-4169-b36b-136c6fbd2afe	9586dcd1-086c-4204-b6f8-2fd2965f1c22	g.chr5:176830536G>A	ENST00000253496.3	-	11	1381	c.1333C>T	c.(1333-1335)Cgc>Tgc	p.R445C	F12_ENST00000514943.1_5'Flank|PFN3_ENST00000358571.2_5'Flank	NM_000505.3	NP_000496.2	P00748	FA12_HUMAN	coagulation factor XII (Hageman factor)	445	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|Factor XII activation (GO:0002542)|fibrinolysis (GO:0042730)|innate immune response (GO:0045087)|plasma kallikrein-kinin cascade (GO:0002353)|positive regulation of blood coagulation (GO:0030194)|positive regulation of fibrinolysis (GO:0051919)|positive regulation of plasminogen activation (GO:0010756)|protein autoprocessing (GO:0016540)|protein processing (GO:0016485)|response to misfolded protein (GO:0051788)|zymogen activation (GO:0031638)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	misfolded protein binding (GO:0051787)|serine-type aminopeptidase activity (GO:0070009)|serine-type endopeptidase activity (GO:0004252)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	12	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		Ethanolamine Oleate(DB06689)	CGGTAGGAGCGCACGGCCAAC	0.721									Hereditary Angioedema																													ENST00000253496.3																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	12						c.(1333-1335)Cgc>Tgc		coagulation factor XII (Hageman factor)							15	18	17					5																	176830536		2184	4291	6475	SO:0001583	missense	2161	Hereditary Angioedema	Familial Cancer Database	HAE, type I-III, Hereditary Angioneurotic Edema, HANE,	Factor XII activation|fibrinolysis|innate immune response|positive regulation of blood coagulation|positive regulation of fibrinolysis|positive regulation of plasminogen activation|protein autoprocessing|response to misfolded protein|zymogen activation	extracellular space|plasma membrane	serine-type endopeptidase activity	g.chr5:176830536G>A	M31315	CCDS34302.1	5q35.3	2014-09-17			ENSG00000131187	ENSG00000131187	3.4.21.38		3530	protein-coding gene	gene with protein product		610619					Standard	NM_000505		Approved		uc003mgo.4	P00748	OTTHUMG00000163403	ENST00000253496.3:c.1333C>T	5.37:g.176830536G>A	ENSP00000253496:p.Arg445Cys						p.R445C	NM_000505.3	NP_000496.2	P00748	FA12_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		11	1381	-	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	445			Peptidase S1.		P78339	Missense_Mutation	SNP	ENST00000253496.3	37	c.1333C>T	CCDS34302.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.280221	0.80692	.	.	ENSG00000131187	ENST00000253496	D	0.89196	-2.48	5.31	5.31	0.75309	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.136308	0.34245	N	0.004124	D	0.91798	0.7405	L	0.49571	1.57	0.80722	D	1	D	0.76494	0.999	D	0.63597	0.916	D	0.92464	0.5980	10	0.87932	D	0	.	14.4726	0.67526	0.0:0.0:1.0:0.0	.	445	P00748	FA12_HUMAN	C	445	ENSP00000253496:R445C	ENSP00000253496:R445C	R	-	1	0	F12	176763142	0.988000	0.35896	0.999000	0.59377	0.712000	0.41017	2.320000	0.43797	2.489000	0.83994	0.491000	0.48974	CGC		0.721	F12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373217.1			3	16	0	0	0	0.004672	0	3	16					A	176830536	G	A	176830536	3	1	148	1	0	0	0	0	1	0	0	0	5339	1087	38	1	530	1	F12	5	176830536	Missense_Mutation	SNP	G	TCGA-G9-6329-01A-13D-1961-08	25046184	176830536	4084724	12	7305											
COL12A1	1303	broad.mit.edu	37	chr6	75892975	75892975	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgaattcctcagttttatcGcaggatctctgaaagcatct	10	14	7	10	1	3	2	1	2	2	0	6	3	4	3	1	1	1	3	1	1	3	3			TCGA-G9-6329-01A-13D-1961-08	TCGA-G9-6329-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da75b98c-dc27-4169-b36b-136c6fbd2afe	9586dcd1-086c-4204-b6f8-2fd2965f1c22	g.chr6:75892975G>A	ENST00000322507.8	-	10	1991	c.1682C>T	c.(1681-1683)gCg>gTg	p.A561V	COL12A1_ENST00000483888.2_Missense_Mutation_p.A561V|COL12A1_ENST00000345356.6_Intron|COL12A1_ENST00000416123.2_Missense_Mutation_p.A561V	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	561	VWFA 2. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	collagen type XII trimer (GO:0005595)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|vesicle (GO:0031982)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)			breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						CAGTTTTATCGCAGGATCTCT	0.443																																						ENST00000322507.8																			0				breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						c.(1681-1683)gCg>gTg		collagen, type XII, alpha 1							161	151	154					6																	75892975		1914	4130	6044	SO:0001583	missense	1303				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength	g.chr6:75892975G>A	U73779	CCDS43481.1, CCDS43482.1	6q12-q13	2013-02-11	2003-07-24		ENSG00000111799	ENSG00000111799		"Proteoglycans / Extracellular Matrix : Collagen proteoglycans", "Collagens", "Fibronectin type III domain containing"	2188	protein-coding gene	gene with protein product	"collagen type XII proteoglycan"	120320	"collagen, type XII, alpha 1-like"	COL12A1L		9143499	Standard	XM_006715334		Approved		uc003phs.3	Q99715	OTTHUMG00000015051	ENST00000322507.8:c.1682C>T	6.37:g.75892975G>A	ENSP00000325146:p.Ala561Val					COL12A1_ENST00000345356.6_Intron|COL12A1_ENST00000416123.2_Missense_Mutation_p.A561V|COL12A1_ENST00000483888.2_Missense_Mutation_p.A561V	p.A561V	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN			10	1991	-			561			VWFA 2.		O43853|Q15955|Q5VYK1|Q5VYK2|Q71UR3|Q99716	Missense_Mutation	SNP	ENST00000322507.8	37	c.1682C>T	CCDS43482.1	.	.	.	.	.	.	.	.	.	.	G	31	5.068994	0.93950	.	.	ENSG00000111799	ENST00000322507;ENST00000432784;ENST00000416123;ENST00000483888	T;T;T	0.81330	-1.48;-1.48;-1.48	5.56	5.56	0.83823	von Willebrand factor, type A (3);	0.000000	0.64402	D	0.000001	D	0.88062	0.6336	M	0.73753	2.245	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.85005	0.0902	10	0.34782	T	0.22	.	19.8835	0.96906	0.0:0.0:1.0:0.0	.	561;561	D6RGG3;Q99715	.;COCA1_HUMAN	V	561	ENSP00000325146:A561V;ENSP00000412864:A561V;ENSP00000421216:A561V	ENSP00000325146:A561V	A	-	2	0	COL12A1	75949695	1.000000	0.71417	0.996000	0.52242	0.988000	0.76386	9.813000	0.99286	2.777000	0.95525	0.655000	0.94253	GCG		0.443	COL12A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041249.3	NM_004370		18	131	0	0	0	0.007413	0	18	131					A	75892975	G	A	75892975	3	1	148	1	0	0	0	0	1	0	0	0	3669	1087	38	1	7737	1	COL12A1	6	75892975	Missense_Mutation	SNP	G	TCGA-G9-6329-01A-13D-1961-08		75892975	95222092	13	7306											
MDN1	23195	broad.mit.edu	37	chr6	90426386	90426386	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacttgcagaagttaacattGtccatcagaagccagtctcc	12	11	7	11	0	2	2	1	0	1	2	4	2	3	2	3	0	4	2	3	0	4	4			TCGA-G9-6329-01A-13D-1961-08	TCGA-G9-6329-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da75b98c-dc27-4169-b36b-136c6fbd2afe	9586dcd1-086c-4204-b6f8-2fd2965f1c22	g.chr6:90426386G>A	ENST00000369393.3	-	44	6841	c.6726C>T	c.(6724-6726)gaC>gaT	p.D2242D	MDN1_ENST00000428876.1_Silent_p.D2242D			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	2242					ATP catabolic process (GO:0006200)|protein complex assembly (GO:0006461)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|unfolded protein binding (GO:0051082)			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		AGTTAACATTGTCCATCAGAA	0.463																																						ENST00000369393.3																			0				NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218						c.(6724-6726)gaC>gaT		MDN1, midasin homolog (yeast)							104	85	91					6																	90426386		2203	4300	6503	SO:0001819	synonymous_variant	23195				protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding	g.chr6:90426386G>A	AF503925	CCDS5024.1	6q15	2014-01-28			ENSG00000112159	ENSG00000112159			18302	protein-coding gene	gene with protein product						9205841, 12102729	Standard	XM_005248699		Approved	KIAA0301	uc003pnn.1	Q9NU22	OTTHUMG00000015213	ENST00000369393.3:c.6726C>T	6.37:g.90426386G>A						MDN1_ENST00000428876.1_Silent_p.D2242D	p.D2242D			Q9NU22	MDN1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0193)	44	6841	-		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)	2242					O15019|Q5T794	Silent	SNP	ENST00000369393.3	37	c.6726C>T	CCDS5024.1																																																																																				0.463	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041514.2			8	51	0	0	0	0.006214	0	8	51					A	90426386	G	A	90426386	2	1	148	1	0	0	0	0	0	0	0	1	9415	1368	48	3		3	MDN1	6	90426386	Silent	SNP	G	TCGA-G9-6329-01A-13D-1961-08	14533411	90426386	80688681	14	7307											
CCDC129	223075	broad.mit.edu	37	chr7	31617858	31617858	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctgtgatgatttgctaccttAtcctcctcatggtcttctga	6	17	7	11	0	3	3	1	3	2	0	5	3	5	3	3	1	2	1	3	1	2	4			TCGA-G9-6329-01A-13D-1961-08	TCGA-G9-6329-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da75b98c-dc27-4169-b36b-136c6fbd2afe	9586dcd1-086c-4204-b6f8-2fd2965f1c22	g.chr7:31617858A>G	ENST00000407970.3	+	8	1018	c.980A>G	c.(979-981)tAt>tGt	p.Y327C	CCDC129_ENST00000409210.1_Missense_Mutation_p.Y235C|CCDC129_ENST00000319386.3_Intron|CCDC129_ENST00000451887.2_Missense_Mutation_p.Y353C	NM_001257967.1|NM_194300.3	NP_001244896.1|NP_919276.2	Q6ZRS4	CC129_HUMAN	coiled-coil domain containing 129	327										cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31)	44						TTGCTACCTTATCCTCCTCAT	0.512																																						ENST00000409210.1																			0				cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31)	44						c.(703-705)tAt>tGt		coiled-coil domain containing 129							81	80	80					7																	31617858		2060	4197	6257	SO:0001583	missense	223075							g.chr7:31617858A>G	AK128026	CCDS5435.2, CCDS59050.1, CCDS75577.1	7p14.3	2006-08-21			ENSG00000180347	ENSG00000180347			27363	protein-coding gene	gene with protein product						14702039	Standard	NM_001257967		Approved	FLJ38344	uc011kad.1	Q6ZRS4	OTTHUMG00000128611	ENST00000407970.3:c.980A>G	7.37:g.31617858A>G	ENSP00000384416:p.Tyr327Cys					CCDC129_ENST00000319386.3_Intron|CCDC129_ENST00000407970.3_Missense_Mutation_p.Y327C|CCDC129_ENST00000451887.2_Missense_Mutation_p.Y353C	p.Y235C			Q6ZRS4	CC129_HUMAN			6	888	+			327					A2RU17|B3KTI9|B4DHB0|B4E2R1|F5H3V5	Missense_Mutation	SNP	ENST00000407970.3	37	c.704A>G	CCDS5435.2	.	.	.	.	.	.	.	.	.	.	A	9.528	1.109983	0.20714	.	.	ENSG00000180347	ENST00000407970;ENST00000451887;ENST00000538406;ENST00000409210	T;T;T	0.16597	2.6;2.59;2.33	5.08	-1.37	0.09056	.	.	.	.	.	T	0.09202	0.0227	N	0.08118	0	0.09310	N	1	P;P;P	0.48230	0.907;0.846;0.846	P;P;P	0.46452	0.517;0.517;0.517	T	0.29427	-1.0012	8	.	.	.	-3.2264	6.3968	0.21616	0.3229:0.2837:0.3934:0.0	.	353;337;327	F5H3V5;F5H2J8;Q6ZRS4	.;.;CC129_HUMAN	C	327;353;337;235	ENSP00000384416:Y327C;ENSP00000395835:Y353C;ENSP00000387214:Y235C	.	Y	+	2	0	CCDC129	31584383	0.000000	0.05858	0.007000	0.13788	0.008000	0.06430	0.419000	0.21247	-0.301000	0.08882	0.533000	0.62120	TAT		0.512	CCDC129-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318975.1	NM_194300		9	75	0	0	0	0.006214	0	9	75					G	31617858	A	G	31617858	3	3	148	1	0	0	0	0	1	0	0	0	2764	449	16	4	1006	4	CCDC129	7	31617858	Missense_Mutation	SNP	A	TCGA-G9-6329-01A-13D-1961-08		31617858	127520805	15	7308											
KIAA1967	57805	broad.mit.edu	37	chr8	22472959	22472959	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tggcgctttgccgagtttcaGtacctgcagccgggaccccc	5	9	12	15	3	1	0	1	0	0	0	1	2	1	1	5	2	4	4	5	2	1	3			TCGA-G9-6329-01A-13D-1961-08	TCGA-G9-6329-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da75b98c-dc27-4169-b36b-136c6fbd2afe	9586dcd1-086c-4204-b6f8-2fd2965f1c22	g.chr8:22472959G>A	ENST00000308511.4	+	12	1476	c.1227G>A	c.(1225-1227)caG>caA	p.Q409Q	CCAR2_ENST00000520861.1_Silent_p.Q84Q|CCAR2_ENST00000389279.3_Silent_p.Q409Q|RP11-582J16.5_ENST00000521025.1_RNA			Q8N163	CCAR2_HUMAN	cell cycle and apoptosis regulator 2	409					cell cycle (GO:0007049)|cellular response to DNA damage stimulus (GO:0006974)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|mRNA processing (GO:0006397)|negative regulation of catalytic activity (GO:0043086)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902230)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA damage checkpoint (GO:2000003)|regulation of circadian rhythm (GO:0042752)|regulation of DNA-templated transcription, elongation (GO:0032784)|regulation of protein stability (GO:0031647)|response to UV (GO:0009411)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|DBIRD complex (GO:0044609)|mitochondrial matrix (GO:0005759)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|poly(A) RNA binding (GO:0044822)|RNA polymerase II core binding (GO:0000993)										CCGAGTTTCAGTACCTGCAGC	0.582																																						ENST00000308511.4																			0				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(3)|ovary(1)|skin(5)	25						c.(1225-1227)caG>caA									71	82	79					8																	22472959		2203	4300	6503	SO:0001819	synonymous_variant	0				apoptosis|positive regulation of apoptosis	mitochondrial matrix|nucleus	enzyme binding|enzyme inhibitor activity	g.chr8:22472959G>A	AL834351	CCDS34863.1	8p22	2013-08-22	2013-08-22	2013-08-22		ENSG00000158941			23360	protein-coding gene	gene with protein product	"deleted in breast cancer"	607359	"KIAA1967"	KIAA1967		12370419	Standard	NM_021174		Approved	DBC-1, DBC1, NET35	uc003xci.3	Q8N163		ENST00000308511.4:c.1227G>A	8.37:g.22472959G>A						KIAA1967_ENST00000389279.3_Silent_p.Q409Q|RP11-582J16.5_ENST00000521025.1_RNA|KIAA1967_ENST00000520861.1_Silent_p.Q84Q	p.Q409Q			Q8N163	K1967_HUMAN		BRCA - Breast invasive adenocarcinoma(99;0.00593)|Colorectal(74;0.0157)|COAD - Colon adenocarcinoma(73;0.064)	12	1476	+		Prostate(55;0.0421)|Breast(100;0.102)|all_epithelial(46;0.142)	409					A6NL03|B2RB79|D3DSR6|Q6P0Q9|Q8N3G7|Q8N8M1|Q8TF34|Q9H9Q9|Q9HD12|Q9NT55	Silent	SNP	ENST00000308511.4	37	c.1227G>A	CCDS34863.1	.	.	.	.	.	.	.	.	.	.	G	15.85	2.954196	0.53293	.	.	ENSG00000158941	ENST00000520738	.	.	.	5.65	5.65	0.86999	.	.	.	.	.	T	0.65091	0.2658	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.61282	-0.7094	4	.	.	.	-27.9391	12.7286	0.57185	0.0:0.1644:0.8355:0.0	.	.	.	.	N	101	.	.	S	+	2	0	KIAA1967	22528904	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	2.387000	0.44389	2.941000	0.99782	0.655000	0.94253	AGT		0.582	CCAR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375865.1	NM_021174		30	132	0	0	0	0.012213	0	30	132					A	22472959	G	A	22472959	2	1	148	1	0	0	0	0	0	0	0	1	8265	1020	36	3		3	KIAA1967	8	22472959	Silent	SNP	G	TCGA-G9-6329-01A-13D-1961-08		22472959	123891063	16	7309											
COL5A1	1289	broad.mit.edu	37	chr9	137657572	137657572	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aggggcccccaggtcctcccGgacctcccgtaagtcccatt	6	7	10	18	2	0	0	0	0	0	0	4	1	4	1	7	4	0	1	7	4	1	2			TCGA-G9-6329-01A-13D-1961-08	TCGA-G9-6329-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da75b98c-dc27-4169-b36b-136c6fbd2afe	9586dcd1-086c-4204-b6f8-2fd2965f1c22	g.chr9:137657572G>A	ENST00000371817.3	+	21	2494	c.2080G>A	c.(2080-2082)Gga>Aga	p.G694R		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	694	Triple-helical region.			PPGPPGVT -> VTGEPGAP (in Ref. 4; AA sequence). {ECO:0000305}.	axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular fibril organization (GO:0043206)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|eye morphogenesis (GO:0048592)|heart morphogenesis (GO:0003007)|integrin biosynthetic process (GO:0045112)|negative regulation of endodermal cell differentiation (GO:1903225)|regulation of cellular component organization (GO:0051128)|skin development (GO:0043588)|tendon development (GO:0035989)|wound healing, spreading of epidermal cells (GO:0035313)	basement membrane (GO:0005604)|collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|proteoglycan binding (GO:0043394)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		AGGTCCTCCCGGACCTCCCGT	0.637																																						ENST00000371817.3																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115						c.(2080-2082)Gga>Aga		collagen, type V, alpha 1							91	93	92					9																	137657572		2203	4300	6503	SO:0001583	missense	1289				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding	g.chr9:137657572G>A	D90279	CCDS6982.1, CCDS75932.1	9q34.2-q34.3	2014-09-17			ENSG00000130635	ENSG00000130635		"Collagens"	2209	protein-coding gene	gene with protein product	"alpha 1 type V collagen"	120215				1572660	Standard	NM_001278074		Approved		uc031tfl.1	P20908	OTTHUMG00000020891	ENST00000371817.3:c.2080G>A	9.37:g.137657572G>A	ENSP00000360882:p.Gly694Arg						p.G694R	NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)	21	2494	+		Myeloproliferative disorder(178;0.0341)	694	PPGPPGVT -> VTGEPGAP (in Ref. 4; AA sequence).		Triple-helical region.		Q15094|Q5SUX4	Missense_Mutation	SNP	ENST00000371817.3	37	c.2080G>A	CCDS6982.1	.	.	.	.	.	.	.	.	.	.	G	14.02	2.412147	0.42817	.	.	ENSG00000130635	ENST00000371817	D	0.99186	-5.53	4.28	3.37	0.38596	.	0.000000	0.64402	U	0.000001	D	0.98893	0.9625	H	0.99435	4.565	0.44345	D	0.997235	B	0.15473	0.013	B	0.08055	0.003	D	0.97256	0.9901	10	0.87932	D	0	.	5.38	0.16186	0.1045:0.0:0.693:0.2025	.	694	P20908	CO5A1_HUMAN	R	694	ENSP00000360882:G694R	ENSP00000360882:G694R	G	+	1	0	COL5A1	136797393	1.000000	0.71417	0.543000	0.28128	0.868000	0.49771	5.514000	0.67043	0.783000	0.33636	0.561000	0.74099	GGA		0.637	COL5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054954.2	NM_000093		21	116	0	0	0	0.00278	0	21	116					A	137657572	G	A	137657572	3	1	148	1	0	0	0	0	1	0	0	0	3696	1117	39	2	2162	2	COL5A1	9	137657572	Missense_Mutation	SNP	G	TCGA-G9-6329-01A-13D-1961-08		137657572	3555859	17	7310											
PKD2L1	9033	broad.mit.edu	37	chr10	102048747	102048747	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	accactctcctgcccaccctGgactccccaggggtctgggg	5	7	11	18	0	2	0	0	0	2	0	4	1	3	1	6	5	1	0	6	5	0	0			TCGA-G9-6329-01A-13D-1961-08	TCGA-G9-6329-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da75b98c-dc27-4169-b36b-136c6fbd2afe	9586dcd1-086c-4204-b6f8-2fd2965f1c22	g.chr10:102048747G>A	ENST00000318222.3	-	15	2699	c.2317C>T	c.(2317-2319)Cag>Tag	p.Q773*	BLOC1S2_ENST00000370372.2_5'Flank|BLOC1S2_ENST00000361832.2_5'Flank|PKD2L1_ENST00000338519.3_Nonsense_Mutation_p.Q698*|PKD2L1_ENST00000353274.3_Intron|BLOC1S2_ENST00000441611.1_5'Flank	NM_001253837.1|NM_016112.2	NP_001240766.1|NP_057196.2	Q9P0L9	PK2L1_HUMAN	polycystic kidney disease 2-like 1	773					cation transport (GO:0006812)|cellular response to acidic pH (GO:0071468)|detection of chemical stimulus involved in sensory perception of sour taste (GO:0001581)|detection of mechanical stimulus (GO:0050982)|potassium ion transmembrane transport (GO:0071805)|protein homotrimerization (GO:0070207)|sensory perception of sour taste (GO:0050915)|smoothened signaling pathway (GO:0007224)|sodium ion transmembrane transport (GO:0035725)	calcium channel complex (GO:0034704)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nonmotile primary cilium (GO:0031513)|plasma membrane (GO:0005886)	alpha-actinin binding (GO:0051393)|calcium activated cation channel activity (GO:0005227)|calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-activated potassium channel activity (GO:0015269)|cation channel activity (GO:0005261)|cytoskeletal protein binding (GO:0008092)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|sodium channel activity (GO:0005272)|sour taste receptor activity (GO:0033040)			NS(2)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	43		Colorectal(252;0.117)		Epithelial(162;6.15e-10)|all cancers(201;5.14e-08)		TGCCCACCCTGGACTCCCCAG	0.602																																						ENST00000318222.3																			0				NS(2)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	43						c.(2317-2319)Cag>Tag		polycystic kidney disease 2-like 1							49	52	51					10																	102048747		2203	4300	6503	SO:0001587	stop_gained	9033				signal transduction	integral to membrane	calcium activated cation channel activity|calcium ion binding|cytoskeletal protein binding	g.chr10:102048747G>A	AF094827	CCDS7492.1	10q24.31	2011-12-16			ENSG00000107593	ENSG00000107593		"Voltage-gated ion channels / Transient receptor potential cation channels"	9011	protein-coding gene	gene with protein product	"transient receptor potential cation channel, subfamily P, member 3"	604532		PKD2L, PKDL		9878261, 9748274	Standard	NM_016112		Approved	PCL, TRPP3	uc001kqx.1	Q9P0L9	OTTHUMG00000018910	ENST00000318222.3:c.2317C>T	10.37:g.102048747G>A	ENSP00000325296:p.Gln773*					PKD2L1_ENST00000338519.3_Nonsense_Mutation_p.Q698*|PKD2L1_ENST00000353274.3_Intron	p.Q773*	NM_001253837.1|NM_016112.2	NP_001240766.1|NP_057196.2	Q9P0L9	PK2L1_HUMAN		Epithelial(162;6.15e-10)|all cancers(201;5.14e-08)	15	2699	-		Colorectal(252;0.117)	773					O75972|Q5W039|Q9UP35|Q9UPA2	Nonsense_Mutation	SNP	ENST00000318222.3	37	c.2317C>T	CCDS7492.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	40|40	8.142496|8.142496	0.98675|0.98675	.|.	.|.	ENSG00000107593|ENSG00000107593	ENST00000339977|ENST00000338519;ENST00000318222	.|.	.|.	.|.	4.28|4.28	1.33|1.33	0.21861|0.21861	.|.	.|1.626820	.|0.03478	.|N	.|0.214668	T|.	0.28200|.	0.0696|.	.|.	.|.	.|.	0.09310|0.09310	N|N	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.22591|.	-1.0212|.	5|.	0.87932|0.41790	D|T	0|0.15	.|.	2.9142|2.9142	0.05746|0.05746	0.0996:0.18:0.5344:0.186|0.0996:0.18:0.5344:0.186	.|.	.|.	.|.	.|.	L|X	770|698;773	.|.	ENSP00000343736:P770L|ENSP00000325296:Q773X	P|Q	-|-	2|1	0|0	PKD2L1|PKD2L1	102038737|102038737	0.006000|0.006000	0.16342|0.16342	0.009000|0.009000	0.14445|0.14445	0.885000|0.885000	0.51271|0.51271	0.249000|0.249000	0.18216|0.18216	0.311000|0.311000	0.23014|0.23014	0.484000|0.484000	0.47621|0.47621	CCA|CAG		0.602	PKD2L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049863.2	NM_016112		15	90	0	0	0	0.007413	0	15	90					A	102048747	G	A	102048747	4	1	148	1	0	0	0	0	0	1	0	0	11967	1357	47	3	108	3	PKD2L1	10	102048747	Nonsense_Mutation	SNP	G	TCGA-G9-6329-01A-13D-1961-08		102048747	33486000	18	7311											
OR4P4	81300	broad.mit.edu	37	chr11	55406192	55406192	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cacagggatggcctatgaccGctatgtggccatttgcaagc	9	9	12	11	1	0	1	0	1	0	0	0	2	0	2	3	3	2	2	3	3	3	3	rs143338269	byFrequency	TCGA-G9-6329-01A-13D-1961-08	TCGA-G9-6329-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da75b98c-dc27-4169-b36b-136c6fbd2afe	9586dcd1-086c-4204-b6f8-2fd2965f1c22	g.chr11:55406192G>A	ENST00000314612.2	+	1	359	c.359G>A	c.(358-360)cGc>cAc	p.R120H		NM_001004124.1	NP_001004124.1	Q8NGL7	OR4P4_HUMAN	olfactory receptor, family 4, subfamily P, member 4	120						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			autonomic_ganglia(1)|central_nervous_system(1)|kidney(4)|large_intestine(4)|lung(28)|ovary(1)|upper_aerodigestive_tract(1)	40						GCCTATGACCGCTATGTGGCC	0.403													g|||	5	0.000998403	0.0038	0	5008	,	,		15032	0		0	False		,,,				2504	0					ENST00000314612.2																			0				autonomic_ganglia(1)|central_nervous_system(1)|kidney(4)|large_intestine(4)|lung(28)|ovary(1)|upper_aerodigestive_tract(1)	40						c.(358-360)cGc>cAc		olfactory receptor, family 4, subfamily P, member 4		G	HIS/ARG	10,4348		1,8,2170	92	80	84		359	3.5	1	11	dbSNP_134	84	0,8032		0,0,4016	yes	missense	OR4P4	NM_001004124.1	29	1,8,6186	AA,AG,GG		0.0,0.2295,0.0807	benign	120/313	55406192	10,12380	2179	4016	6195	SO:0001583	missense	81300				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55406192G>A	AB065775	CCDS31504.1	11q11	2012-08-09			ENSG00000181927	ENSG00000181927		"GPCR / Class A : Olfactory receptors"	15180	protein-coding gene	gene with protein product				OR4P3P			Standard	NM_001004124		Approved		uc010rij.2	Q8NGL7	OTTHUMG00000165300	ENST00000314612.2:c.359G>A	11.37:g.55406192G>A	ENSP00000324831:p.Arg120His						p.R120H	NM_001004124.1	NP_001004124.1	Q8NGL7	OR4P4_HUMAN			1	359	+			120						Missense_Mutation	SNP	ENST00000314612.2	37	c.359G>A	CCDS31504.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	11.25	1.582094	0.28180	0.002295	0.0	ENSG00000181927	ENST00000314612	T	0.77489	-1.1	5.37	3.51	0.40186	GPCR, rhodopsin-like superfamily (1);	0.175331	0.27927	N	0.017297	T	0.78117	0.4233	M	0.84773	2.715	0.34429	D	0.698286	B	0.22480	0.07	B	0.19148	0.024	T	0.79581	-0.1744	10	0.59425	D	0.04	-3.8644	10.5555	0.45114	0.1571:0.0:0.8429:0.0	.	120	Q8NGL7	OR4P4_HUMAN	H	120	ENSP00000324831:R120H	ENSP00000324831:R120H	R	+	2	0	OR4P4	55162768	0.865000	0.29922	0.965000	0.40720	0.063000	0.16089	4.768000	0.62293	0.645000	0.30675	-0.154000	0.13518	CGC		0.403	OR4P4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383356.1	NM_001004124		16	41	0	0	0	0.004007	0	16	41					A	55406192	G	A	55406192	3	1	148	1	0	0	0	0	1	0	0	0	11080	1087	38	1	361	1	OR4P4	11	55406192	Missense_Mutation	SNP	G	TCGA-G9-6329-01A-13D-1961-08		55406192	79600324	19	7312											
PRPF19	27339	broad.mit.edu	37	chr11	60666069	60666069	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctgttccaaagatgagtcCgtcagggtggaactgtgcac	9	10	12	10	1	1	2	1	1	0	1	4	3	4	3	3	2	2	2	3	2	2	1			TCGA-G9-6329-01A-13D-1961-08	TCGA-G9-6329-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da75b98c-dc27-4169-b36b-136c6fbd2afe	9586dcd1-086c-4204-b6f8-2fd2965f1c22	g.chr11:60666069C>A	ENST00000227524.4	-	13	1289	c.1084G>T	c.(1084-1086)Gga>Tga	p.G362*		NM_014502.4	NP_055317.1			pre-mRNA processing factor 19											haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|urinary_tract(1)	22						AAGATGAGTCCGTCAGGGTGG	0.562																																						ENST00000227524.4																			0				haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|urinary_tract(1)	22						c.(1084-1086)Gga>Tga		pre-mRNA processing factor 19							95	84	88					11																	60666069		2203	4299	6502	SO:0001587	stop_gained	27339				DNA repair|protein polyubiquitination|spliceosome assembly	catalytic step 2 spliceosome|nuclear speck|spindle|ubiquitin ligase complex	DNA binding|identical protein binding|ubiquitin-ubiquitin ligase activity	g.chr11:60666069C>A	BC018698	CCDS7995.1	11q12.2	2014-05-20	2013-06-10	2005-04-01	ENSG00000110107	ENSG00000110107		"WD repeat domain containing", "U-box domain containing"	17896	protein-coding gene	gene with protein product	"nuclear matrix protein NMP200 related to splicing factor PRP19", "psoralen 4"	608330	"PRP19/PSO4 homolog (S. cerevisiae)", "PRP19/PSO4 pre-mRNA processing factor 19 homolog (S. cerevisiae)"	PRP19		12960389	Standard	NM_014502		Approved	UBOX4, NMP200, PSO4, hPSO4	uc001nqf.3	Q9UMS4	OTTHUMG00000167798	ENST00000227524.4:c.1084G>T	11.37:g.60666069C>A	ENSP00000227524:p.Gly362*						p.G362*	NM_014502.4	NP_055317.1	Q9UMS4	PRP19_HUMAN			13	1289	-			362						Nonsense_Mutation	SNP	ENST00000227524.4	37	c.1084G>T	CCDS7995.1	.	.	.	.	.	.	.	.	.	.	C	27.7	4.853116	0.91355	.	.	ENSG00000110107	ENST00000227524;ENST00000535326	.	.	.	5.17	5.17	0.71159	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-9.6313	18.4838	0.90821	0.0:1.0:0.0:0.0	.	.	.	.	X	362;34	.	ENSP00000227524:G362X	G	-	1	0	PRPF19	60422645	1.000000	0.71417	0.991000	0.47740	0.950000	0.60333	7.296000	0.78790	2.683000	0.91414	0.655000	0.94253	GGA		0.562	PRPF19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396334.1	NM_014502		9	56	1	0	0.000274275	0.004482	0.000335987	9	56					A	60666069	C	A	60666069	4	1	148	1	0	0	0	0	0	1	0	0	12564	661	23	5	446	5	PRPF19	11	60666069	Nonsense_Mutation	SNP	C	TCGA-G9-6329-01A-13D-1961-08	5259877	60666069	74340447	20	7313											
DNAH3	55567	broad.mit.edu	37	chr16	21109952	21109952	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caaacctcaaactctgcaaaCgcccgatttaggttctttga	12	11	6	12	2	3	1	1	1	2	0	3	2	3	1	2	1	4	2	2	1	4	4	rs376343061		TCGA-G9-6329-01A-13D-1961-08	TCGA-G9-6329-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da75b98c-dc27-4169-b36b-136c6fbd2afe	9586dcd1-086c-4204-b6f8-2fd2965f1c22	g.chr16:21109952C>T	ENST00000261383.3	-	17	2504	c.2505G>A	c.(2503-2505)gcG>gcA	p.A835A	DNAH3_ENST00000415178.1_Silent_p.A835A	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	835	Stem. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		ACTCTGCAAACGCCCGATTTA	0.403																																						ENST00000261383.3																			0				NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202						c.(2503-2505)gcG>gcA		dynein, axonemal, heavy chain 3		C		0,4402		0,0,2201	146	133	137		2505	-11.4	0.2	16		137	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	DNAH3	NM_017539.1		0,1,6500	TT,TC,CC		0.0116,0.0,0.0077		835/4117	21109952	1,13001	2201	4300	6501	SO:0001819	synonymous_variant	55567				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr16:21109952C>T	U83574	CCDS10594.1	16p12.2	2008-08-01	2006-09-04		ENSG00000158486	ENSG00000158486		"Axonemal dyneins"	2949	protein-coding gene	gene with protein product		603334	"dynein, axonemal, heavy polypeptide 3"			9256245, 9373155	Standard	NM_017539		Approved	Dnahc3b, DLP3, Hsadhc3, DKFZp434N074	uc010vbe.2	Q8TD57	OTTHUMG00000090677	ENST00000261383.3:c.2505G>A	16.37:g.21109952C>T						DNAH3_ENST00000415178.1_Silent_p.A835A	p.A835A	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN		GBM - Glioblastoma multiforme(48;0.207)	17	2504	-			835			Stem (By similarity).		O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Silent	SNP	ENST00000261383.3	37	c.2505G>A	CCDS10594.1																																																																																				0.403	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207361.1	NM_017539		7	119	0	0	0	0.00308	0	7	119					T	21109952	C	T	21109952	2	4	148	1	0	0	0	0	0	0	0	1	4603	523	19	1		1	DNAH3	16	21109952	Silent	SNP	C	TCGA-G9-6329-01A-13D-1961-08		21109952	69244801	21	7314											
ERN2	10595	broad.mit.edu	37	chr16	23716455	23716455	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aggcccatcccgcaggacgcCaggtggctcatgtctgccga	7	6	13	15	3	2	0	1	0	1	0	3	2	3	1	4	4	1	2	4	4	0	0			TCGA-G9-6329-01A-13D-1961-08	TCGA-G9-6329-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da75b98c-dc27-4169-b36b-136c6fbd2afe	9586dcd1-086c-4204-b6f8-2fd2965f1c22	g.chr16:23716455C>T	ENST00000457008.2	-	8	641	c.603G>A	c.(601-603)ctG>ctA	p.L201L	ERN2_ENST00000256797.4_Silent_p.L249L					endoplasmic reticulum to nucleus signaling 2											large_intestine(2)|lung(2)|ovary(2)	6				GBM - Glioblastoma multiforme(48;0.0156)		CGCAGGACGCCAGGTGGCTCA	0.637																																						ENST00000256797.4																			0				large_intestine(2)|lung(2)|ovary(2)	6						c.(745-747)ctG>ctA		endoplasmic reticulum to nucleus signaling 2							40	40	40					16																	23716455		2197	4300	6497	SO:0001819	synonymous_variant	10595				apoptosis|induction of apoptosis|mRNA processing|negative regulation of transcription, DNA-dependent|rRNA catabolic process|transcription, DNA-dependent	endoplasmic reticulum membrane|integral to membrane	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein serine/threonine kinase activity	g.chr16:23716455C>T	AA527544	CCDS32407.1	16p12.2	2008-02-05	2007-08-14			ENSG00000134398			16942	protein-coding gene	gene with protein product		604034	"ER to nucleus signalling 2"			9755171, 11175748	Standard	NM_033266		Approved	IRE1b	uc002dma.4	Q76MJ5		ENST00000457008.2:c.603G>A	16.37:g.23716455C>T						ERN2_ENST00000457008.2_Silent_p.L201L	p.L249L	NM_033266.3	NP_150296.3	Q76MJ5	ERN2_HUMAN		GBM - Glioblastoma multiforme(48;0.0156)	8	915	-			201						Silent	SNP	ENST00000457008.2	37	c.747G>A																																																																																					0.637	ERN2-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000434886.1			5	50	0	0	0	0.000602	0	5	50					T	23716455	C	T	23716455	2	4	148	1	0	0	0	0	0	0	0	1	5238	581	21	3		3	ERN2	16	23716455	Silent	SNP	C	TCGA-G9-6329-01A-13D-1961-08	2606503	23716455	66638298	22	7315											
WIPI1	55062	broad.mit.edu	37	chr17	66425017	66425017	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cctccatcctgaggatccaaAttgtacatataaaggtgtcc	12	11	7	11	0	0	1	0	1	0	0	4	2	4	2	5	2	1	1	5	2	5	4			TCGA-G9-6329-01A-13D-1961-08	TCGA-G9-6329-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da75b98c-dc27-4169-b36b-136c6fbd2afe	9586dcd1-086c-4204-b6f8-2fd2965f1c22	g.chr17:66425017A>C	ENST00000262139.5	-	10	1025	c.1026T>G	c.(1024-1026)aaT>aaG	p.N342K	WIPI1_ENST00000546360.1_Missense_Mutation_p.N260K|RP11-120M18.2_ENST00000592030.1_RNA|WIPI1_ENST00000589459.1_5'UTR	NM_017983.5	NP_060453.3	Q5MNZ9	WIPI1_HUMAN	WD repeat domain, phosphoinositide interacting 1	342					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|autophagy (GO:0006914)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|vesicle targeting, trans-Golgi to endosome (GO:0048203)	autophagic vacuole membrane (GO:0000421)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|pre-autophagosomal structure (GO:0000407)|pre-autophagosomal structure membrane (GO:0034045)|trans-Golgi network (GO:0005802)	androgen receptor binding (GO:0050681)|estrogen receptor binding (GO:0030331)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|receptor binding (GO:0005102)			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	18						GAGGATCCAAATTGTACATAT	0.468																																						ENST00000262139.5																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	18						c.(1024-1026)aaT>aaG		WD repeat domain, phosphoinositide interacting 1							110	90	97					17																	66425017		2203	4300	6503	SO:0001583	missense	55062				macroautophagy|vesicle targeting, trans-Golgi to endosome	autophagic vacuole membrane|clathrin-coated vesicle|cytosol|endosome membrane|PAS complex|pre-autophagosomal structure membrane|trans-Golgi network	androgen receptor binding|estrogen receptor binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding	g.chr17:66425017A>C		CCDS11677.1	17q24.2	2014-02-12				ENSG00000070540		"WD repeat domain containing"	25471	protein-coding gene	gene with protein product		609224				15020712, 15602573	Standard	NM_017983		Approved	FLJ10055, WIPI49, Atg18, ATG18A	uc010dey.3	Q5MNZ9		ENST00000262139.5:c.1026T>G	17.37:g.66425017A>C	ENSP00000262139:p.Asn342Lys					WIPI1_ENST00000546360.1_Missense_Mutation_p.N260K|WIPI1_ENST00000589459.1_5'UTR	p.N342K	NM_017983.5	NP_060453.3	Q5MNZ9	WIPI1_HUMAN			10	1025	-			342					Q8IXM5|Q9NWF8	Missense_Mutation	SNP	ENST00000262139.5	37	c.1026T>G	CCDS11677.1	.	.	.	.	.	.	.	.	.	.	A	17.94	3.511724	0.64522	.	.	ENSG00000070540	ENST00000262139;ENST00000546360	T;T	0.50001	0.76;2.22	5.46	-4.29	0.03721	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.57154	0.2034	M	0.80847	2.515	0.40530	D	0.980921	P	0.51537	0.946	P	0.52957	0.714	T	0.65717	-0.6100	10	0.34782	T	0.22	-21.4324	16.9577	0.86264	0.2194:0.0:0.7806:0.0	.	342	Q5MNZ9	WIPI1_HUMAN	K	342;260	ENSP00000262139:N342K;ENSP00000437345:N260K	ENSP00000262139:N342K	N	-	3	2	WIPI1	63936612	0.002000	0.14202	0.023000	0.16930	0.737000	0.42083	-0.069000	0.11542	-0.905000	0.03871	0.528000	0.53228	AAT		0.468	WIPI1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448739.1	NM_017983		4	56	0	0	0	0.000602	0	4	56					C	66425017	A	C	66425017	3	2	148	1	0	0	0	0	1	0	0	0	17367	98	4	5	330	5	WIPI1	17	66425017	Missense_Mutation	SNP	A	TCGA-G9-6329-01A-13D-1961-08		66425017	14770193	23	7316											
CBX4	8535	broad.mit.edu	37	chr17	77809099	77809099	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgtactgatgcccctggccCttcccctgcgcgcccaaatc	5	9	8	19	3	0	1	0	1	0	0	3	1	1	1	6	1	3	1	6	1	2	2			TCGA-G9-6329-01A-13D-1961-08	TCGA-G9-6329-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da75b98c-dc27-4169-b36b-136c6fbd2afe	9586dcd1-086c-4204-b6f8-2fd2965f1c22	g.chr17:77809099C>T	ENST00000269397.4	-	5	519	c.342G>A	c.(340-342)aaG>aaA	p.K114K	CBX4_ENST00000448310.1_3'UTR	NM_003655.2	NP_003646.2	O00257	CBX4_HUMAN	chromobox homolog 4	114	Interaction with BMI1.				chromatin modification (GO:0016568)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|protein sumoylation (GO:0016925)|transcription, DNA-templated (GO:0006351)	nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)	chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|ligase activity (GO:0016874)|single-stranded RNA binding (GO:0003727)|SUMO binding (GO:0032183)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			GCCCCTGGCCCTTCCCCTGCG	0.657											OREG0024799	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000269397.4																			0				breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	18						c.(340-342)aaG>aaA		chromobox homolog 4							97	92	93					17																	77809099		2203	4300	6503	SO:0001819	synonymous_variant	8535				anti-apoptosis|chromatin modification|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|PcG protein complex	enzyme binding|transcription corepressor activity	g.chr17:77809099C>T	AF013956	CCDS32758.1	17q25.3	2010-07-06	2010-06-24		ENSG00000141582	ENSG00000141582			1554	protein-coding gene	gene with protein product	"NS5ATP1-binding protein 16", "Pc class 2 homolog (Drosophila)"	603079	"chromobox homolog 4 (Drosophila Pc class)"			9315667	Standard	NM_003655		Approved	hPC2, PC2, NBP16	uc002jxe.3	O00257	OTTHUMG00000150415	ENST00000269397.4:c.342G>A	17.37:g.77809099C>T			OREG0024799	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1178	CBX4_ENST00000448310.1_3'UTR	p.K114K	NM_003655.2	NP_003646.2	O00257	CBX4_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)		5	519	-			114			Interaction with BMI1.		B1PJR7|Q6TPI8|Q96C04	Silent	SNP	ENST00000269397.4	37	c.342G>A	CCDS32758.1																																																																																				0.657	CBX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318007.1	NM_003655		16	127	0	0	0	0.00499	0	16	127					T	77809099	C	T	77809099	2	4	148	1	0	0	0	0	0	0	0	1	2720	680	24	3		3	CBX4	17	77809099	Silent	SNP	C	TCGA-G9-6329-01A-13D-1961-08	11384082	77809099	3386111	24	7317											
ABHD8	79575	broad.mit.edu	37	chr19	17411726	17411726	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgcttgaagattgctcgcaTgtcctcagccagcgcataga	9	9	11	12	3	1	3	1	1	0	2	3	3	2	3	2	0	3	4	2	0	2	3			TCGA-G9-6329-01A-13D-1961-08	TCGA-G9-6329-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da75b98c-dc27-4169-b36b-136c6fbd2afe	9586dcd1-086c-4204-b6f8-2fd2965f1c22	g.chr19:17411726T>C	ENST00000247706.3	-	2	939	c.700A>G	c.(700-702)Atg>Gtg	p.M234V	MRPL34_ENST00000595444.1_Intron|MRPL34_ENST00000600434.1_Intron|MRPL34_ENST00000594999.1_5'Flank	NM_024527.4	NP_078803.4	Q96I13	ABHD8_HUMAN	abhydrolase domain containing 8	234							hydrolase activity (GO:0016787)			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(5)|urinary_tract(1)	9						ATTGCTCGCATGTCCTCAGCC	0.617																																					Ovarian(156;1368 2543 15275 41187)	ENST00000247706.3																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|lung(5)|urinary_tract(1)	9						c.(700-702)Atg>Gtg		abhydrolase domain containing 8							81	86	85					19																	17411726		2203	4299	6502	SO:0001583	missense	79575						hydrolase activity	g.chr19:17411726T>C	AK021805	CCDS12355.1	19p13.12	2010-12-09			ENSG00000127220	ENSG00000127220		"Abhydrolase domain containing"	23759	protein-coding gene	gene with protein product						12477932	Standard	NM_024527		Approved	FLJ11743, MGC14280, MGC2512	uc002ngb.4	Q96I13		ENST00000247706.3:c.700A>G	19.37:g.17411726T>C	ENSP00000247706:p.Met234Val					MRPL34_ENST00000600434.1_Intron|MRPL34_ENST00000595444.1_Intron	p.M234V	NM_024527.4	NP_078803.4	Q96I13	ABHD8_HUMAN			2	939	-			234					Q9HAE9	Missense_Mutation	SNP	ENST00000247706.3	37	c.700A>G	CCDS12355.1	.	.	.	.	.	.	.	.	.	.	T	9.846	1.192410	0.21954	.	.	ENSG00000127220	ENST00000247706;ENST00000544788	T	0.62788	0.0	5.6	5.6	0.85130	.	0.088628	0.85682	D	0.000000	T	0.29223	0.0727	N	0.01109	-1.01	0.45806	D	0.998685	B	0.06786	0.001	B	0.04013	0.001	T	0.38415	-0.9662	10	0.05959	T	0.93	-58.7545	13.7295	0.62779	0.0:0.0:0.0:1.0	.	234	Q96I13	ABHD8_HUMAN	V	234;180	ENSP00000247706:M234V	ENSP00000247706:M234V	M	-	1	0	ABHD8	17272726	1.000000	0.71417	1.000000	0.80357	0.864000	0.49448	5.734000	0.68580	2.135000	0.66039	0.459000	0.35465	ATG		0.617	ABHD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462937.1	NM_024527		13	143	0	0	0	0.00245	0	13	143					C	17411726	T	C	17411726	3	2	148	1	0	0	0	0	1	0	0	0	87	1464	51	4	635	4	ABHD8	19	17411726	Missense_Mutation	SNP	T	TCGA-G9-6329-01A-13D-1961-08		17411726	41717257	25	7318											
ZNF675	171392	broad.mit.edu	37	chr19	23837046	23837046	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagttctgtcacattcttgaCatttgtagagtttctcacaa	11	16	6	8	0	4	2	2	1	3	1	5	2	4	2	0	0	0	3	0	0	3	6			TCGA-G9-6329-01A-13D-1961-08	TCGA-G9-6329-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da75b98c-dc27-4169-b36b-136c6fbd2afe	9586dcd1-086c-4204-b6f8-2fd2965f1c22	g.chr19:23837046C>T	ENST00000359788.4	-	4	857	c.689G>A	c.(688-690)tGt>tAt	p.C230Y	ZNF675_ENST00000600313.1_Intron|ZNF675_ENST00000601935.1_Intron|ZNF675_ENST00000596211.1_Intron	NM_138330.2	NP_612203.2	Q8TD23	ZN675_HUMAN	zinc finger protein 675	230					bone resorption (GO:0045453)|cytokine-mediated signaling pathway (GO:0019221)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|negative regulation of interleukin-1-mediated signaling pathway (GO:2000660)|negative regulation of JNK cascade (GO:0046329)|negative regulation of JUN kinase activity (GO:0043508)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|negative regulation of tumor necrosis factor-mediated signaling pathway (GO:0010804)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	DNA binding (GO:0003677)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)				ACATTCTTGACATTTGTAGAG	0.308																																						ENST00000359788.4																			0				endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27						c.(688-690)tGt>tAt		zinc finger protein 675							51	53	52					19																	23837046		2201	4296	6497	SO:0001583	missense	171392				bone resorption|cytokine-mediated signaling pathway|hemopoiesis|I-kappaB kinase/NF-kappaB cascade|negative regulation of JNK cascade|negative regulation of osteoclast differentiation|negative regulation of protein kinase activity|negative regulation of transcription, DNA-dependent|regulation of ossification|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding	g.chr19:23837046C>T		CCDS32981.1	19p12	2013-01-08						"Zinc fingers, C2H2-type", "-"	30768	protein-coding gene	gene with protein product	"TRAF6 inhibitory zinc finger"					11751921	Standard	NM_138330		Approved	TIZ, TBZF	uc002nri.3	Q8TD23		ENST00000359788.4:c.689G>A	19.37:g.23837046C>T	ENSP00000352836:p.Cys230Tyr					ZNF675_ENST00000596211.1_Intron|ZNF675_ENST00000600313.1_Intron|ZNF675_ENST00000601935.1_Intron	p.C230Y	NM_138330.2	NP_612203.2	Q8TD23	ZN675_HUMAN			4	857	-		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)	230					Q8N211	Missense_Mutation	SNP	ENST00000359788.4	37	c.689G>A	CCDS32981.1	.	.	.	.	.	.	.	.	.	.	.	12.66	2.003977	0.35320	.	.	ENSG00000197372	ENST00000359788	T	0.38560	1.13	0.916	0.916	0.19373	Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.57548	0.2061	M	0.88570	2.965	0.38238	D	0.941234	P	0.46912	0.886	P	0.52823	0.71	T	0.64084	-0.6490	9	0.66056	D	0.02	.	8.5828	0.33640	0.0:1.0:0.0:0.0	.	230	Q8TD23	ZN675_HUMAN	Y	230	ENSP00000352836:C230Y	ENSP00000352836:C230Y	C	-	2	0	ZNF675	23628886	0.985000	0.35326	0.280000	0.24747	0.278000	0.26855	4.786000	0.62425	0.300000	0.22699	0.305000	0.20034	TGT		0.308	ZNF675-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466433.1	NM_138330		12	37	0	0	0	0.001855	0	12	37					T	23837046	C	T	23837046	3	4	148	1	0	0	0	0	1	0	0	0	18079	478	17	3	1021	3	ZNF675	19	23837046	Missense_Mutation	SNP	C	TCGA-G9-6329-01A-13D-1961-08	6425320	23837046	35291937	26	7319											
ESF1	51575	broad.mit.edu	37	chr20	13763318	13763318	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ttgtgtaaattctttgctatCcttcttcggacttatgtttg	6	21	7	7	1	2	0	0	0	2	0	4	1	3	1	1	1	1	3	1	1	4	9			TCGA-G9-6329-01A-13D-1961-08	TCGA-G9-6329-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da75b98c-dc27-4169-b36b-136c6fbd2afe	9586dcd1-086c-4204-b6f8-2fd2965f1c22	g.chr20:13763318C>T	ENST00000202816.1	-	2	576	c.469G>A	c.(469-471)Gat>Aat	p.D157N	NDUFAF5_ENST00000463598.1_5'Flank|NDUFAF5_ENST00000378106.5_5'Flank	NM_001276380.1|NM_016649.3	NP_001263309.1|NP_057733.2	Q9H501	ESF1_HUMAN	ESF1, nucleolar pre-rRNA processing protein, homolog (S. cerevisiae)	157	Lys-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	extracellular space (GO:0005615)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(2)|skin(1)|stomach(1)	31						TCTTTGCTATCCTTCTTCGGA	0.279																																						ENST00000202816.1																			0				endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(2)|skin(1)|stomach(1)	31						c.(469-471)Gat>Aat		ESF1, nucleolar pre-rRNA processing protein, homolog (S. cerevisiae)							38	39	38					20																	13763318		2196	4288	6484	SO:0001583	missense	51575				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus|nucleoplasm		g.chr20:13763318C>T		CCDS13117.1	20p12.1	2007-02-12	2006-11-13	2006-11-13	ENSG00000089048	ENSG00000089048			15898	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 6"	C20orf6			Standard	NM_016649		Approved	bA526K24.1	uc002wok.2	Q9H501	OTTHUMG00000031906	ENST00000202816.1:c.469G>A	20.37:g.13763318C>T	ENSP00000202816:p.Asp157Asn						p.D157N	NM_001276380.1|NM_016649.3	NP_001263309.1|NP_057733.2	Q9H501	ESF1_HUMAN			2	576	-			157			Lys-rich.		Q86X92|Q9H9Q5|Q9HA35|Q9NX93|Q9P1S6	Missense_Mutation	SNP	ENST00000202816.1	37	c.469G>A	CCDS13117.1	.	.	.	.	.	.	.	.	.	.	C	4.731	0.135985	0.09032	.	.	ENSG00000089048	ENST00000202816	T	0.22743	1.94	4.96	-0.326	0.12698	.	1.210830	0.05615	N	0.578808	T	0.13243	0.0321	N	0.19112	0.55	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.36601	-0.9741	10	0.14656	T	0.56	.	9.4105	0.38489	0.0:0.5319:0.0:0.4681	.	157	Q9H501	ESF1_HUMAN	N	157	ENSP00000202816:D157N	ENSP00000202816:D157N	D	-	1	0	ESF1	13711318	0.000000	0.05858	0.000000	0.03702	0.073000	0.16967	-0.338000	0.07842	-0.335000	0.08451	0.591000	0.81541	GAT		0.279	ESF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078049.1	NM_016649		5	34	0	0	0	0.001168	0	5	34					T	13763318	C	T	13763318	3	4	148	1	0	0	0	0	1	0	0	0	5251	855	30	3	2138	3	ESF1	20	13763318	Missense_Mutation	SNP	C	TCGA-G9-6329-01A-13D-1961-08		13763318	49262202	27	7320											
RTEL1	51750	broad.mit.edu	37	chr20	62320908	62320908	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggccgtggtgtgattgtcacGggcctcccgtaccccccacg	4	8	13	16	4	1	1	1	1	0	0	2	1	2	1	6	3	1	1	6	3	1	2	rs374107857		TCGA-G9-6329-01A-13D-1961-08	TCGA-G9-6329-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da75b98c-dc27-4169-b36b-136c6fbd2afe	9586dcd1-086c-4204-b6f8-2fd2965f1c22	g.chr20:62320908G>T	ENST00000360203.5	+	23	2257	c.1932G>T	c.(1930-1932)acG>acT	p.T644T	RTEL1_ENST00000370003.1_5'Flank|RTEL1_ENST00000370018.3_Silent_p.T644T|RTEL1_ENST00000318100.4_Silent_p.T644T|RTEL1_ENST00000508582.2_Silent_p.T668T|RTEL1-TNFRSF6B_ENST00000482936.1_Silent_p.T644T					regulator of telomere elongation helicase 1											NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_cancers(38;6.47e-12)|all_epithelial(29;3.75e-13)		Epithelial(9;1.25e-09)|all cancers(9;5.13e-09)|BRCA - Breast invasive adenocarcinoma(10;7.26e-05)|OV - Ovarian serous cystadenocarcinoma(5;0.00223)|Colorectal(105;0.107)			TGATTGTCACGGGCCTCCCGT	0.662																																						ENST00000318100.4																			0				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						c.(1930-1932)acG>acT		regulator of telomere elongation helicase 1							43	39	40					20																	62320908		2194	4288	6482	SO:0001819	synonymous_variant	51750				DNA repair|regulation of double-strand break repair via homologous recombination|telomere maintenance	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding	g.chr20:62320908G>T	AB029011	CCDS13530.2, CCDS13531.1, CCDS13530.3, CCDS63331.1, CCDS74751.1	20q13.3	2012-06-27	2004-10-29	2004-10-29	ENSG00000258366	ENSG00000258366			15888	protein-coding gene	gene with protein product		608833	"chromosome 20 open reading frame 41"	C20orf41		10655513, 15210109	Standard	NM_016434		Approved	bK3184A7.3, NHL, DKFZP434C013, KIAA1088, RTEL	uc011abd.2	Q9NZ71	OTTHUMG00000032992	ENST00000360203.5:c.1932G>T	20.37:g.62320908G>T						RTEL1_ENST00000370018.3_Silent_p.T644T|RTEL1_ENST00000360203.5_Silent_p.T644T|RTEL1_ENST00000508582.2_Silent_p.T668T|RTEL1-TNFRSF6B_ENST00000482936.1_Silent_p.T644T	p.T644T			Q9NZ71	RTEL1_HUMAN	Epithelial(9;1.25e-09)|all cancers(9;5.13e-09)|BRCA - Breast invasive adenocarcinoma(10;7.26e-05)|OV - Ovarian serous cystadenocarcinoma(5;0.00223)|Colorectal(105;0.107)		23	2759	+	all_cancers(38;6.47e-12)|all_epithelial(29;3.75e-13)		644						Silent	SNP	ENST00000360203.5	37	c.1932G>T																																																																																					0.662	RTEL1-011	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000289781.1	NM_032957		3	49	1	0	0.004672	0.004672	0.00558361	3	49					T	62320908	G	T	62320908	2	4	148	1	0	0	0	0	0	0	0	1	13720	1103	39	5		5	RTEL1	20	62320908	Silent	SNP	G	TCGA-G9-6329-01A-13D-1961-08	48557590	62320908	704612	28	7321											
NUP50	10762	broad.mit.edu	37	chr22	45574602	45574602	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgcctcatttaatttcggcaAgaaagttgatagctctgttt	10	16	8	7	1	2	2	1	1	1	1	3	2	2	2	1	1	2	4	1	1	4	6	rs564086226		TCGA-G9-6329-01A-13D-1961-08	TCGA-G9-6329-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da75b98c-dc27-4169-b36b-136c6fbd2afe	9586dcd1-086c-4204-b6f8-2fd2965f1c22	g.chr22:45574602A>G	ENST00000347635.4	+	5	1290	c.824A>G	c.(823-825)aAg>aGg	p.K275R	NUP50_ENST00000425733.2_Missense_Mutation_p.K25R|NUP50_ENST00000407019.2_Missense_Mutation_p.K247R|NUP50_ENST00000396096.2_Missense_Mutation_p.K247R|CTA-268H5.12_ENST00000610217.1_RNA	NM_007172.3	NP_009103.2	Q9UKX7	NUP50_HUMAN	nucleoporin 50kDa	275	5 X 2 AA repeats of F-G.|Ser-rich.				carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|intracellular transport (GO:0046907)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	9		Ovarian(80;0.00965)|all_neural(38;0.0244)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)		AATTTCGGCAAGAAAGTTGAT	0.438													A|||	1	0.000199681	0	0	5008	,	,		21736	0.001		0	False		,,,				2504	0					ENST00000347635.3																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	9						c.(823-825)aAg>aGg		nucleoporin 50kDa							34	30	31					22																	45574602		2203	4297	6500	SO:0001583	missense	10762				carbohydrate metabolic process|glucose transport|intracellular transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear membrane|nuclear pore|nucleoplasm	protein binding	g.chr22:45574602A>G	AF107840	CCDS14062.1, CCDS14063.1	22q13.3	2007-01-22	2002-08-29		ENSG00000093000	ENSG00000093000			8065	protein-coding gene	gene with protein product		604646	"nucleoporin 50kD"	NPAP60L		10449902	Standard	XM_005261312		Approved		uc003bfr.3	Q9UKX7	OTTHUMG00000151265	ENST00000347635.4:c.824A>G	22.37:g.45574602A>G	ENSP00000345895:p.Lys275Arg					NUP50_ENST00000425733.2_Missense_Mutation_p.K25R|NUP50_ENST00000407019.2_Missense_Mutation_p.K247R|NUP50_ENST00000396096.2_Missense_Mutation_p.K247R	p.K275R	NM_007172.3	NP_009103.2	Q9UKX7	NUP50_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)	5	1290	+		Ovarian(80;0.00965)|all_neural(38;0.0244)	275			5 X 2 AA repeats of F-G.|Ser-rich.		B1AHA4|B2RB15|O75644|Q8N6V5|Q9NPM9|Q9NPR6|Q9P1K5	Missense_Mutation	SNP	ENST00000347635.4	37	c.824A>G	CCDS14062.1	.	.	.	.	.	.	.	.	.	.	A	14.91	2.676245	0.47886	.	.	ENSG00000093000	ENST00000347635;ENST00000407019;ENST00000425733;ENST00000396096	.	.	.	5.46	4.41	0.53225	Nuclear pore complex, NUP2/50/61 (1);	0.162974	0.53938	D	0.000051	T	0.55800	0.1943	L	0.58669	1.825	0.42659	D	0.993479	B;B	0.19445	0.022;0.036	B;B	0.20577	0.018;0.03	T	0.52866	-0.8518	9	0.22706	T	0.39	-33.1723	11.9419	0.52905	0.9289:0.0:0.0711:0.0	.	25;275	B4E2D3;Q9UKX7	.;NUP50_HUMAN	R	275;247;25;247	.	ENSP00000345895:K275R	K	+	2	0	NUP50	43953266	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.515000	0.73751	2.191000	0.70037	0.533000	0.62120	AAG		0.438	NUP50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321993.2			3	20	0	0	0	0.001984	0	3	20					G	45574602	A	G	45574602	3	3	148	1	0	0	0	0	1	0	0	0	10766	72	3	4	838	4	NUP50	22	45574602	Missense_Mutation	SNP	A	TCGA-G9-6329-01A-13D-1961-08		45574602	5729964	29	7322											
DENND2D	79961	broad.mit.edu	37	chr1	111737241	111737241	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atgatttttctctccagcacGgcagaggcaaagatctgaag	12	10	10	9	1	2	4	0	2	2	2	4	4	3	4	1	2	1	3	1	2	2	2			TCGA-G9-6332-01A-11D-1786-08	TCGA-G9-6332-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50f0a6a4-1453-4dc2-b963-53a6075ce4cd	23c4ade3-dc70-4bd0-95f0-c7be9eec4d99	g.chr1:111737241G>A	ENST00000357640.4	-	7	982	c.753C>T	c.(751-753)gcC>gcT	p.A251A	DENND2D_ENST00000369752.5_Silent_p.A248A|DENND2D_ENST00000473682.1_5'Flank	NM_024901.3	NP_079177.2	Q9H6A0	DEN2D_HUMAN	DENN/MADD domain containing 2D	251	DENN. {ECO:0000255|PROSITE- ProRule:PRU00304}.				positive regulation of Rab GTPase activity (GO:0032851)	cytoplasm (GO:0005737)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)	p.A251A(1)		breast(1)|endometrium(1)|kidney(7)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	25		all_cancers(81;0.00198)|all_epithelial(167;0.000686)|all_lung(203;0.00318)|Lung NSC(277;0.00499)		Lung(183;0.0162)|Colorectal(144;0.069)|all cancers(265;0.0757)|LUSC - Lung squamous cell carcinoma(189;0.0845)|Epithelial(280;0.114)|COAD - Colon adenocarcinoma(174;0.14)		TCTCCAGCACGGCAGAGGCAA	0.537																																						ENST00000357640.4																			1	Substitution - coding silent(1)	p.A251A(1)	prostate(1)	breast(1)|endometrium(1)|kidney(7)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	25						c.(751-753)gcC>gcT		DENN/MADD domain containing 2D							60	63	62					1																	111737241		2203	4300	6503	SO:0001819	synonymous_variant	79961							g.chr1:111737241G>A		CCDS831.1, CCDS60219.1	1p13.3	2014-02-12	2005-08-17		ENSG00000162777	ENSG00000162777		"DENN/MADD domain containing"	26192	protein-coding gene	gene with protein product		615111				12477932	Standard	NM_024901		Approved	FLJ22457, RP5-1180E21.2	uc001eal.2	Q9H6A0	OTTHUMG00000012356	ENST00000357640.4:c.753C>T	1.37:g.111737241G>A						DENND2D_ENST00000369752.5_Silent_p.A248A	p.A251A	NM_024901.3	NP_079177.2	Q9H6A0	DEN2D_HUMAN		Lung(183;0.0162)|Colorectal(144;0.069)|all cancers(265;0.0757)|LUSC - Lung squamous cell carcinoma(189;0.0845)|Epithelial(280;0.114)|COAD - Colon adenocarcinoma(174;0.14)	7	982	-		all_cancers(81;0.00198)|all_epithelial(167;0.000686)|all_lung(203;0.00318)|Lung NSC(277;0.00499)	251			DENN.		Q5T5V6|Q9BSU0	Silent	SNP	ENST00000357640.4	37	c.753C>T	CCDS831.1																																																																																				0.537	DENND2D-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000034456.1	NM_024901		13	55	0	0	0	0.001855	0	13	55					A	111737241	G	A	111737241	2	1	149	1	0	0	0	0	0	0	0	1	4431	1103	39	2		2	DENND2D	1	111737241	Silent	SNP	G	TCGA-G9-6332-01A-11D-1786-08		111737241	137513380	1	7323											
S100A8	6279	broad.mit.edu	37	chr1	153362715	153362715	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgaaccagacgtctgcacccTttttctgtcaagattgagga	10	12	9	10	1	3	4	1	2	2	2	3	5	3	5	2	1	2	1	2	1	2	3			TCGA-G9-6332-01A-11D-1786-08	TCGA-G9-6332-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50f0a6a4-1453-4dc2-b963-53a6075ce4cd	23c4ade3-dc70-4bd0-95f0-c7be9eec4d99	g.chr1:153362715T>C	ENST00000368733.3	-	3	315	c.146A>G	c.(145-147)aAg>aGg	p.K49R	S100A8_ENST00000477801.1_5'UTR|S100A8_ENST00000368732.1_Missense_Mutation_p.K49R	NM_002964.4	NP_002955.2	P05109	S10A8_HUMAN	S100 calcium binding protein A8	49	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|acute inflammatory response (GO:0002526)|autophagy (GO:0006914)|chemokine production (GO:0032602)|chronic inflammatory response (GO:0002544)|cytokine production (GO:0001816)|defense response to bacterium (GO:0042742)|defense response to fungus (GO:0050832)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|leukocyte migration involved in inflammatory response (GO:0002523)|neutrophil aggregation (GO:0070488)|neutrophil chemotaxis (GO:0030593)|positive regulation of cell growth (GO:0030307)|positive regulation of inflammatory response (GO:0050729)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|regulation of cytoskeleton organization (GO:0051493)|response to ethanol (GO:0045471)|response to lipopolysaccharide (GO:0032496)|response to zinc ion (GO:0010043)|sequestering of zinc ion (GO:0032119)|wound healing (GO:0042060)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	arachidonic acid binding (GO:0050544)|calcium ion binding (GO:0005509)|microtubule binding (GO:0008017)|RAGE receptor binding (GO:0050786)|Toll-like receptor 4 binding (GO:0035662)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|lung(1)|urinary_tract(1)	4	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.171)			GTCTGCACCCTTTTTCTGTCA	0.507																																						ENST00000368733.3																			0				breast(1)|endometrium(1)|lung(1)|urinary_tract(1)	4						c.(145-147)aAg>aGg		S100 calcium binding protein A8							115	115	115					1																	153362715		2203	4300	6503	SO:0001583	missense	6279				chemotaxis	cytoplasm|cytoskeleton|plasma membrane	calcium ion binding|protein binding	g.chr1:153362715T>C	BC005928	CCDS1038.1	1q12-q22	2013-01-10	2006-09-11		ENSG00000143546	ENSG00000143546		"S100 calcium binding proteins", "EF-hand domain containing"	10498	protein-coding gene	gene with protein product		123885	"S100 calcium-binding protein A8 (calgranulin A)", "S100 calcium binding protein A8 (calgranulin A)"	CAGA, CFAG			Standard	NM_002964		Approved	P8, MRP8, 60B8AG, CGLA	uc001fbs.3	P05109	OTTHUMG00000013124	ENST00000368733.3:c.146A>G	1.37:g.153362715T>C	ENSP00000357722:p.Lys49Arg					S100A8_ENST00000477801.1_5'UTR|S100A8_ENST00000368732.1_Missense_Mutation_p.K49R	p.K49R	NM_002964.4	NP_002955.2	P05109	S10A8_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		3	315	-	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		49			EF-hand 2.		A8K5L3|D3DV37|Q5SY70|Q9UC84|Q9UC92|Q9UCJ0|Q9UCM6	Missense_Mutation	SNP	ENST00000368733.3	37	c.146A>G	CCDS1038.1	.	.	.	.	.	.	.	.	.	.	.	11.89	1.773606	0.31411	.	.	ENSG00000143546	ENST00000368733;ENST00000368732	T;T	0.07021	3.23;3.23	4.37	2.01	0.26516	EF-hand-like domain (1);	0.146302	0.64402	N	0.000011	T	0.01523	0.0049	.	.	.	0.09310	N	1	B	0.18741	0.03	B	0.17098	0.017	T	0.45877	-0.9231	9	0.36615	T	0.2	.	3.8238	0.08846	0.1858:0.1009:0.0:0.7134	.	49	P05109	S10A8_HUMAN	R	49	ENSP00000357722:K49R;ENSP00000357721:K49R	ENSP00000357721:K49R	K	-	2	0	S100A8	151629339	0.137000	0.22531	0.024000	0.17045	0.196000	0.23810	1.062000	0.30555	0.437000	0.26423	0.524000	0.50904	AAG		0.507	S100A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036791.1	NM_002964		3	149	0	0	0	0.004672	0	3	149					C	153362715	T	C	153362715	3	2	149	1	0	0	0	0	1	0	0	0	13786	1609	56	4	139	4	S100A8	1	153362715	Missense_Mutation	SNP	T	TCGA-G9-6332-01A-11D-1786-08	41625474	153362715	95887906	2	7324											
TBX19	9095	broad.mit.edu	37	chr1	168278015	168278015	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gctcaagcaataatctgcaaGttttctcgggacctgacagc	11	10	9	11	1	3	1	1	1	2	0	4	2	3	2	1	1	3	4	1	1	4	3			TCGA-G9-6332-01A-11D-1786-08	TCGA-G9-6332-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50f0a6a4-1453-4dc2-b963-53a6075ce4cd	23c4ade3-dc70-4bd0-95f0-c7be9eec4d99	g.chr1:168278015G>C	ENST00000367821.3	+	7	1003	c.952G>C	c.(952-954)Gtt>Ctt	p.V318L	TBX19_ENST00000465440.1_3'UTR	NM_005149.2	NP_005140.1	O60806	TBX19_HUMAN	T-box 19	318					anatomical structure morphogenesis (GO:0009653)|cell fate commitment (GO:0045165)|pituitary gland development (GO:0021983)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell differentiation (GO:0045595)|regulation of cell proliferation (GO:0042127)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	enhancer sequence-specific DNA binding (GO:0001158)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.V318L(1)		NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|liver(1)|lung(11)|prostate(2)|skin(2)|urinary_tract(1)	34	all_hematologic(923;0.215)					TAATCTGCAAGTTTTCTCGGG	0.463																																						ENST00000367821.3																			1	Substitution - Missense(1)	p.V318L(1)	prostate(1)	NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|liver(1)|lung(11)|prostate(2)|skin(2)|urinary_tract(1)	34						c.(952-954)Gtt>Ctt		T-box 19							144	132	136					1																	168278015		2203	4300	6503	SO:0001583	missense	9095				anatomical structure morphogenesis	nucleus	DNA binding	g.chr1:168278015G>C	AJ010277	CCDS1272.1	1q23-q24	2008-02-05			ENSG00000143178	ENSG00000143178		"T-boxes"	11596	protein-coding gene	gene with protein product	"TBS 19"	604614				9888994	Standard	NM_005149		Approved	dj747L4.1, TPIT	uc001gfl.3	O60806	OTTHUMG00000034648	ENST00000367821.3:c.952G>C	1.37:g.168278015G>C	ENSP00000356795:p.Val318Leu					TBX19_ENST00000465440.1_3'UTR	p.V318L	NM_005149.2	NP_005140.1	O60806	TBX19_HUMAN			7	1003	+	all_hematologic(923;0.215)		318					Q52M53	Missense_Mutation	SNP	ENST00000367821.3	37	c.952G>C	CCDS1272.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.04|13.04	2.119207|2.119207	0.37436|0.37436	.|.	.|.	ENSG00000143178|ENSG00000143178	ENST00000431969;ENST00000441464|ENST00000367821;ENST00000367828	.|D	.|0.94537	.|-3.45	5.46|5.46	4.55|4.55	0.56014|0.56014	.|.	.|0.169040	.|0.37219	.|N	.|0.002199	D|D	0.94311|0.94311	0.8172|0.8172	L|L	0.54323|0.54323	1.7|1.7	.|0.09310	.|N	.|0.999998	.|D;D	.|0.58970	.|0.984;0.984	.|D;D	.|0.70016	.|0.967;0.956	D|D	0.92808|0.92808	0.6262|0.6262	4|9	.|0.21540	.|T	.|0.41	.|.	14.3979|14.3979	0.67022|0.67022	0.0:0.1476:0.8524:0.0|0.0:0.1476:0.8524:0.0	.|.	.|318;186	.|O60806;B3KRD9	.|TBX19_HUMAN;.	T|L	187;150|318;195	.|ENSP00000356795:V318L	.|ENSP00000356795:V318L	S|V	+|+	2|1	0|0	TBX19|TBX19	166544639|166544639	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	3.709000|3.709000	0.54853|0.54853	1.290000|1.290000	0.44636|0.44636	-0.150000|-0.150000	0.13652|0.13652	AGT|GTT		0.463	TBX19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083825.1	NM_005149		3	92	0	0	0	0.004672	0	3	92					C	168278015	G	C	168278015	3	2	149	1	0	0	0	0	1	0	0	0	15651	1029	36	5	978	5	TBX19	1	168278015	Missense_Mutation	SNP	G	TCGA-G9-6332-01A-11D-1786-08	14915300	168278015	80972606	3	7325											
DPT	1805	broad.mit.edu	37	chr1	168698284	168698284	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cactggtagctgaagccttgCcggttcaaattcacccaccc	9	9	8	15	1	2	1	2	1	0	0	2	1	2	1	4	2	3	3	4	2	3	4			TCGA-G9-6332-01A-11D-1786-08	TCGA-G9-6332-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50f0a6a4-1453-4dc2-b963-53a6075ce4cd	23c4ade3-dc70-4bd0-95f0-c7be9eec4d99	g.chr1:168698284C>T	ENST00000367817.3	-	1	218	c.129G>A	c.(127-129)cgG>cgA	p.R43R		NM_001937.4	NP_001928.2	Q07507	DERM_HUMAN	dermatopontin	43	2 X 53-55 AA tandem repeats.				cell adhesion (GO:0007155)|collagen fibril organization (GO:0030199)|negative regulation of cell proliferation (GO:0008285)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)		p.R43R(1)		kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)	12	all_hematologic(923;0.208)					TGAAGCCTTGCCGGTTCAAAT	0.542																																						ENST00000367817.3																			1	Substitution - coding silent(1)	p.R43R(1)	prostate(1)	kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)	12						c.(127-129)cgG>cgA		dermatopontin							115	95	102					1																	168698284		2203	4300	6503	SO:0001819	synonymous_variant	1805				cell adhesion	extracellular space|proteinaceous extracellular matrix		g.chr1:168698284C>T	BC033736	CCDS1275.1	1q12-q23	2008-02-05			ENSG00000143196	ENSG00000143196			3011	protein-coding gene	gene with protein product		125597				8104875	Standard	NM_001937		Approved		uc001gfp.3	Q07507	OTTHUMG00000034554	ENST00000367817.3:c.129G>A	1.37:g.168698284C>T							p.R43R	NM_001937.4	NP_001928.2	Q07507	DERM_HUMAN			1	218	-	all_hematologic(923;0.208)		43			2 X 53-55 AA tandem repeats.		A8K981|Q8N4R2|Q9UIX8	Silent	SNP	ENST00000367817.3	37	c.129G>A	CCDS1275.1																																																																																				0.542	DPT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083618.1	NM_001937		4	64	0	0	0	0.009096	0	4	64					T	168698284	C	T	168698284	2	4	149	1	0	0	0	0	0	0	0	1	4739	726	26	3		3	DPT	1	168698284	Silent	SNP	C	TCGA-G9-6332-01A-11D-1786-08	420269	168698284	80552337	4	7326											
TTN	7273	broad.mit.edu	37	chr2	179412752	179412752	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cttaatgatgacagaagagaAggcttctctgggttcactat	12	12	10	7	0	2	4	1	2	1	2	3	5	2	4	0	2	0	2	0	2	4	4			TCGA-G9-6332-01A-11D-1786-08	TCGA-G9-6332-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50f0a6a4-1453-4dc2-b963-53a6075ce4cd	23c4ade3-dc70-4bd0-95f0-c7be9eec4d99	g.chr2:179412752A>G	ENST00000591111.1	-	289	88902	c.88678T>C	c.(88678-88680)Ttc>Ctc	p.F29560L	TTN_ENST00000342992.6_Missense_Mutation_p.F28633L|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.F31201L|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.F22261L|TTN_ENST00000460472.2_Missense_Mutation_p.F22136L|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.F22328L|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000585451.1_RNA|RP11-65L3.2_ENST00000603415.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000456053.1_RNA			Q8WZ42	TITIN_HUMAN	titin	29560	Fibronectin type-III 115. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.F22136L(2)|p.F22261L(1)|p.F28633L(1)|p.F28631L(1)|p.F22328L(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ACAGAAGAGAAGGCTTCTCTG	0.443																																						ENST00000589042.1																			6	Substitution - Missense(6)	p.F22136L(2)|p.F22261L(1)|p.F28633L(1)|p.F28631L(1)|p.F22328L(1)	prostate(6)	NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(93601-93603)Ttc>Ctc		titin							63	66	65					2																	179412752		1928	4134	6062	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179412752A>G	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.88678T>C	2.37:g.179412752A>G	ENSP00000465570:p.Phe29560Leu					TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.F29560L|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.F22136L|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.F22328L|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.F22261L|TTN_ENST00000342992.6_Missense_Mutation_p.F28633L|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA	p.F31201L	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		339	93825	-			29560			Fibronectin type-III 127.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.93601T>C		.	.	.	.	.	.	.	.	.	.	A	14.28	2.488554	0.44249	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.50813	0.73;0.73;0.73;0.73	5.92	5.92	0.95590	Fibronectin, type III (2);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.30198	0.0757	N	0.04320	-0.23	0.80722	D	1	B;B;B;B	0.21753	0.06;0.06;0.06;0.06	B;B;B;B	0.17433	0.018;0.018;0.018;0.018	T	0.15665	-1.0429	9	0.87932	D	0	.	16.3526	0.83220	1.0:0.0:0.0:0.0	.	22136;22261;22328;29560	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	L	28633;22136;22328;22261;22133	ENSP00000343764:F28633L;ENSP00000434586:F22136L;ENSP00000340554:F22328L;ENSP00000352154:F22261L	ENSP00000340554:F22328L	F	-	1	0	TTN	179120998	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.933000	0.70130	2.255000	0.74692	0.533000	0.62120	TTC		0.443	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		33	52	0	0	0	0.012213	0	33	52					G	179412752	A	G	179412752	3	3	149	1	0	0	0	0	1	0	0	0	16732	72	3	4	14474	4	TTN	2	179412752	Missense_Mutation	SNP	A	TCGA-G9-6332-01A-11D-1786-08		179412752	63786621	5	7327											
FAT1	2195	broad.mit.edu	37	chr4	187540359	187540359	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cactgacaggttaagactgtAaaatggcttcagggcgtgcc	11	9	12	9	1	1	2	1	1	0	1	1	2	1	2	1	3	1	3	1	3	3	3			TCGA-G9-6332-01A-11D-1786-08	TCGA-G9-6332-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50f0a6a4-1453-4dc2-b963-53a6075ce4cd	23c4ade3-dc70-4bd0-95f0-c7be9eec4d99	g.chr4:187540359A>G	ENST00000441802.2	-	10	7590	c.7381T>C	c.(7381-7383)Tac>Cac	p.Y2461H		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	2461	Cadherin 22. {ECO:0000255|PROSITE- ProRule:PRU00043}.				actin filament organization (GO:0007015)|anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.Y2461H(2)|p.Y2464H(1)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						TTAAGACTGTAAAATGGCTTC	0.443										HNSCC(5;0.00058)																											Colon(197;1040 2055 4143 4984 49344)	ENST00000441802.2																			3	Substitution - Missense(3)	p.Y2461H(2)|p.Y2464H(1)	prostate(3)	NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						c.(7381-7383)Tac>Cac		FAT atypical cadherin 1							189	190	190					4																	187540359		1997	4161	6158	SO:0001583	missense	2195				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding	g.chr4:187540359A>G	X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857		"Cadherins / Cadherin-related"	3595	protein-coding gene	gene with protein product	"cadherin-related family member 8"	600976	"FAT tumor suppressor (Drosophila) homolog", "FAT tumor suppressor homolog 1 (Drosophila)"	FAT		8586420	Standard	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.7381T>C	4.37:g.187540359A>G	ENSP00000406229:p.Tyr2461His	HNSCC(5;0.00058)					p.Y2461H	NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN			10	7590	-			2461			Cadherin 22.			Missense_Mutation	SNP	ENST00000441802.2	37	c.7381T>C	CCDS47177.1	.	.	.	.	.	.	.	.	.	.	A	8.027	0.760904	0.15914	.	.	ENSG00000083857	ENST00000441802;ENST00000260147	T	0.69561	-0.41	5.24	4.05	0.47172	Cadherin (4);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.66237	0.2769	M	0.70903	2.155	0.80722	D	1	B	0.20988	0.05	B	0.28139	0.086	T	0.65257	-0.6212	10	0.52906	T	0.07	.	11.5211	0.50551	0.9294:0.0:0.0706:0.0	.	2461	Q14517	FAT1_HUMAN	H	2461;2463	ENSP00000406229:Y2461H	ENSP00000260147:Y2463H	Y	-	1	0	FAT1	187777353	1.000000	0.71417	0.100000	0.21137	0.036000	0.12997	6.062000	0.71155	1.108000	0.41662	0.528000	0.53228	TAC		0.443	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3	NM_005245		6	234	0	0	0	0.001168	0	6	234					G	187540359	A	G	187540359	3	3	149	1	0	0	0	0	1	0	0	0	5689	362	13	4	6457	4	FAT1	4	187540359	Missense_Mutation	SNP	A	TCGA-G9-6332-01A-11D-1786-08		187540359	3613917	6	7328											
ADAMTS19	171019	broad.mit.edu	37	chr5	128983512	128983512	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagcacctgaacatctggccGgagagtggagcctgtggagt	9	7	15	10	1	1	2	0	1	1	1	1	5	1	4	3	4	3	1	3	4	1	0	rs368867511		TCGA-G9-6332-01A-11D-1786-08	TCGA-G9-6332-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50f0a6a4-1453-4dc2-b963-53a6075ce4cd	23c4ade3-dc70-4bd0-95f0-c7be9eec4d99	g.chr5:128983512G>A	ENST00000274487.4	+	12	2054	c.1909G>A	c.(1909-1911)Gga>Aga	p.G637R	CTC-575N7.1_ENST00000503616.1_RNA	NM_133638.3	NP_598377.3	Q8TE59	ATS19_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 19	637	TSP type-1 1. {ECO:0000255|PROSITE- ProRule:PRU00210}.					proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.G637R(2)		NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)		ACATCTGGCCGGAGAGTGGAG	0.522																																						ENST00000274487.4																			2	Substitution - Missense(2)	p.G637R(2)	prostate(2)	NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91						c.(1909-1911)Gga>Aga		ADAM metallopeptidase with thrombospondin type 1 motif, 19		G	ARG/GLY	0,4406		0,0,2203	143	142	142		1909	4.5	1	5		142	1,8599	1.2+/-3.3	0,1,4299	no	missense	ADAMTS19	NM_133638.3	125	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	637/1208	128983512	1,13005	2203	4300	6503	SO:0001583	missense	171019				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:128983512G>A	AJ311904	CCDS4146.1	5q23.3	2009-04-27	2005-08-19		ENSG00000145808	ENSG00000145808		"ADAM metallopeptidases with thrombospondin type 1 motif"	17111	protein-coding gene	gene with protein product		607513	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 19"			11867212	Standard	NM_133638		Approved		uc003kvb.1	Q8TE59	OTTHUMG00000128990	ENST00000274487.4:c.1909G>A	5.37:g.128983512G>A	ENSP00000274487:p.Gly637Arg					CTC-575N7.1_ENST00000503616.1_RNA	p.G637R	NM_133638.3	NP_598377.3	Q8TE59	ATS19_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)	12	2054	+		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	637			TSP type-1 1.			Missense_Mutation	SNP	ENST00000274487.4	37	c.1909G>A	CCDS4146.1	.	.	.	.	.	.	.	.	.	.	G	25.0	4.595049	0.86953	0.0	1.16E-4	ENSG00000145808	ENST00000274487	T	0.61742	0.08	4.52	4.52	0.55395	.	0.000000	0.64402	D	0.000002	T	0.80121	0.4565	M	0.89030	3	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.83146	-0.0106	9	.	.	.	.	18.5478	0.91053	0.0:0.0:1.0:0.0	.	637	Q8TE59	ATS19_HUMAN	R	637	ENSP00000274487:G637R	.	G	+	1	0	ADAMTS19	129011411	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	5.804000	0.69135	2.797000	0.96272	0.650000	0.86243	GGA		0.522	ADAMTS19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250979.2	NM_133638		55	27	0	0	0	0.01441	0	55	27					A	128983512	G	A	128983512	3	1	149	1	0	0	0	0	1	0	0	0	264	1117	39	2	1955	2	ADAMTS19	5	128983512	Missense_Mutation	SNP	G	TCGA-G9-6332-01A-11D-1786-08		128983512	51931748	7	7329											
FOXC1	2296	broad.mit.edu	37	chr6	1611154	1611154	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tggacgctggacccggactcCtacaacatgttcgagaacgg	10	7	12	12	4	0	1	0	0	0	1	2	5	1	4	2	4	3	2	2	4	3	2	rs369346224	byFrequency	TCGA-G9-6332-01A-11D-1786-08	TCGA-G9-6332-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50f0a6a4-1453-4dc2-b963-53a6075ce4cd	23c4ade3-dc70-4bd0-95f0-c7be9eec4d99	g.chr6:1611154C>T	ENST00000380874.2	+	1	474	c.474C>T	c.(472-474)tcC>tcT	p.S158S		NM_001453.2	NP_001444.2	Q12948	FOXC1_HUMAN	forkhead box C1	158					artery morphogenesis (GO:0048844)|blood vessel remodeling (GO:0001974)|brain development (GO:0007420)|camera-type eye development (GO:0043010)|cardiac muscle cell proliferation (GO:0060038)|collagen fibril organization (GO:0030199)|embryonic heart tube development (GO:0035050)|eye development (GO:0001654)|germ cell migration (GO:0008354)|glycosaminoglycan metabolic process (GO:0030203)|heart development (GO:0007507)|in utero embryonic development (GO:0001701)|lacrimal gland development (GO:0032808)|lymph vessel development (GO:0001945)|negative regulation of apoptotic process involved in outflow tract morphogenesis (GO:1902257)|negative regulation of mitotic cell cycle (GO:0045930)|neural crest cell development (GO:0014032)|Notch signaling pathway (GO:0007219)|odontogenesis of dentin-containing tooth (GO:0042475)|ossification (GO:0001503)|ovarian follicle development (GO:0001541)|paraxial mesoderm formation (GO:0048341)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of blood vessel size (GO:0050880)|regulation of organ growth (GO:0046620)|regulation of transcription, DNA-templated (GO:0006355)|skeletal system development (GO:0001501)|somitogenesis (GO:0001756)|ureteric bud development (GO:0001657)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cytoplasm (GO:0005737)|nuclear heterochromatin (GO:0005720)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA binding, bending (GO:0008301)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)	p.S158S(2)		large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1)	8	Ovarian(93;0.0733)	all_cancers(2;4.45e-07)|all_epithelial(2;4.33e-05)|all_lung(73;0.0713)|all_hematologic(90;0.0895)		Epithelial(2;0.0904)|OV - Ovarian serous cystadenocarcinoma(45;0.095)|all cancers(2;0.168)		ACCCGGACTCCTACAACATGT	0.627													c|||	5	0.000998403	0	0	5008	,	,		11409	0.003		0	False		,,,				2504	0.002				Pancreas(133;719 1821 3197 26645 35015)	ENST00000380874.2																			2	Substitution - coding silent(2)	p.S158S(2)	prostate(2)	large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1)	8						c.(472-474)tcC>tcT		forkhead box C1							50	54	53					6																	1611154		2203	4300	6503	SO:0001819	synonymous_variant	2296				anti-apoptosis|artery morphogenesis|blood vessel remodeling|brain development|camera-type eye development|cardiac muscle cell proliferation|collagen fibril organization|embryonic heart tube development|germ cell migration|glycosaminoglycan metabolic process|lacrimal gland development|lymphangiogenesis|metanephros development|negative regulation of mitotic cell cycle|neural crest cell fate commitment|Notch signaling pathway|odontogenesis of dentine-containing tooth|ossification|ovarian follicle development|paraxial mesodermal cell fate commitment|positive regulation of transcription from RNA polymerase II promoter|regulation of blood vessel size|regulation of organ growth|regulation of sequence-specific DNA binding transcription factor activity|somitogenesis|ureteric bud development|vascular endothelial growth factor receptor signaling pathway|vasculogenesis|ventricular cardiac muscle tissue morphogenesis	nuclear heterochromatin|transcription factor complex	chromatin DNA binding|DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding	g.chr6:1611154C>T	AF048693	CCDS4473.1	6p25	2008-04-10			ENSG00000054598	ENSG00000054598		"Forkhead boxes"	3800	protein-coding gene	gene with protein product		601090		FKHL7, IRID1		7957066, 9620769	Standard	NM_001453		Approved	FREAC3, ARA, IGDA, IHG1	uc003mtp.3	Q12948	OTTHUMG00000016182	ENST00000380874.2:c.474C>T	6.37:g.1611154C>T							p.S158S	NM_001453.2	NP_001444.2	Q12948	FOXC1_HUMAN		Epithelial(2;0.0904)|OV - Ovarian serous cystadenocarcinoma(45;0.095)|all cancers(2;0.168)	1	474	+	Ovarian(93;0.0733)	all_cancers(2;4.45e-07)|all_epithelial(2;4.33e-05)|all_lung(73;0.0713)|all_hematologic(90;0.0895)	158					Q86UP7|Q9BYM1|Q9NUE5|Q9UDD0|Q9UP06	Silent	SNP	ENST00000380874.2	37	c.474C>T	CCDS4473.1																																																																																				0.627	FOXC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043450.1			8	38	0	0	0	0.00308	0	8	38					T	1611154	C	T	1611154	2	4	149	1	0	0	0	0	0	0	0	1	5994	668	24	3		3	FOXC1	6	1611154	Silent	SNP	C	TCGA-G9-6332-01A-11D-1786-08		1611154	169503913	8	7330											
RIPK1	8737	broad.mit.edu	37	chr6	3077128	3077128	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctggagagtgcagaactggAcagcggaggctttgggaagg	10	6	18	7	1	0	2	0	0	0	2	0	6	0	5	1	6	3	2	1	6	2	1	rs375750553		TCGA-G9-6332-01A-11D-1786-08	TCGA-G9-6332-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50f0a6a4-1453-4dc2-b963-53a6075ce4cd	23c4ade3-dc70-4bd0-95f0-c7be9eec4d99	g.chr6:3077128A>G	ENST00000259808.4	+	2	369	c.71A>G	c.(70-72)gAc>gGc	p.D24G	RIPK1_ENST00000479389.1_Intron|RIPK1_ENST00000380409.2_Missense_Mutation_p.D24G|RIPK1_ENST00000541791.1_Missense_Mutation_p.D24G			Q13546	RIPK1_HUMAN	receptor (TNFRSF)-interacting serine-threonine kinase 1	24	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of JUN kinase activity (GO:0007257)|amyloid fibril formation (GO:1990000)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cellular protein catabolic process (GO:0044257)|cellular response to growth factor stimulus (GO:0071363)|cellular response to tumor necrosis factor (GO:0071356)|extrinsic apoptotic signaling pathway (GO:0097191)|innate immune response (GO:0045087)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|necroptotic process (GO:0070266)|necroptotic signaling pathway (GO:0097527)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|peptidyl-serine autophosphorylation (GO:0036289)|positive regulation of apoptotic process (GO:0043065)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of JNK cascade (GO:0046330)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of necroptotic process (GO:0060545)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of programmed cell death (GO:0043068)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of type I interferon production (GO:0032481)|protein autophosphorylation (GO:0046777)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|regulation of ATP:ADP antiporter activity (GO:0070926)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|response to tumor necrosis factor (GO:0034612)|ripoptosome assembly (GO:0097343)|ripoptosome assembly involved in necroptotic process (GO:1901026)|T cell apoptotic process (GO:0070231)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	cytosol (GO:0005829)|death-inducing signaling complex (GO:0031264)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|receptor complex (GO:0043235)|ripoptosome (GO:0097342)	ATP binding (GO:0005524)|death domain binding (GO:0070513)|death receptor binding (GO:0005123)|identical protein binding (GO:0042802)|protein complex binding (GO:0032403)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|ubiquitin protein ligase binding (GO:0031625)	p.D24G(2)		breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	23	Ovarian(93;0.0386)	all_hematologic(90;0.0895)				GCAGAACTGGACAGCGGAGGC	0.478																																						ENST00000259808.4																			2	Substitution - Missense(2)	p.D24G(2)	prostate(2)	breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	23						c.(70-72)gAc>gGc		receptor (TNFRSF)-interacting serine-threonine kinase 1							85	76	79					6																	3077128		2203	4300	6503	SO:0001583	missense	8737				activation of caspase activity|activation of JUN kinase activity|activation of pro-apoptotic gene products|induction of apoptosis by extracellular signals|induction of necroptosis by extracellular signals|innate immune response|MyD88-independent toll-like receptor signaling pathway|positive regulation of anti-apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-8 production|positive regulation of NF-kappaB transcription factor activity|positive regulation of reactive oxygen species metabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|protein autophosphorylation|regulation of ATP:ADP antiporter activity|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|death-inducing signaling complex|endosome membrane|mitochondrion|receptor complex	ATP binding|death domain binding|death receptor binding|protein serine/threonine kinase activity	g.chr6:3077128A>G	U25994	CCDS4482.1	6p25.2	2008-02-05			ENSG00000137275	ENSG00000137275			10019	protein-coding gene	gene with protein product		603453				7538908, 8612133	Standard	XM_005249458		Approved	RIP	uc003mux.3	Q13546	OTTHUMG00000014134	ENST00000259808.4:c.71A>G	6.37:g.3077128A>G	ENSP00000259808:p.Asp24Gly					RIPK1_ENST00000541791.1_Missense_Mutation_p.D24G|RIPK1_ENST00000479389.1_Intron|RIPK1_ENST00000380409.2_Missense_Mutation_p.D24G	p.D24G			Q13546	RIPK1_HUMAN			2	369	+	Ovarian(93;0.0386)	all_hematologic(90;0.0895)	24			Protein kinase.		A0AV89|B2RAG1|B4E3F9|Q13180|Q59H33	Missense_Mutation	SNP	ENST00000259808.4	37	c.71A>G	CCDS4482.1	.	.	.	.	.	.	.	.	.	.	A	14.14	2.445431	0.43429	.	.	ENSG00000137275	ENST00000259808;ENST00000541791;ENST00000380409	T;T;T	0.35421	1.4;1.31;1.4	5.56	4.4	0.53042	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.041422	0.85682	D	0.000000	T	0.09862	0.0242	N	0.00263	-1.745	0.80722	D	1	D;D	0.76494	0.999;0.961	D;P	0.65233	0.933;0.817	T	0.40515	-0.9559	10	0.22109	T	0.4	-28.3983	11.3347	0.49496	0.9279:0.0:0.0721:0.0	.	24;24	Q13546-2;Q13546	.;RIPK1_HUMAN	G	24	ENSP00000259808:D24G;ENSP00000442294:D24G;ENSP00000369773:D24G	ENSP00000259808:D24G	D	+	2	0	RIPK1	3022127	1.000000	0.71417	0.991000	0.47740	0.859000	0.49053	5.845000	0.69437	1.050000	0.40346	0.533000	0.62120	GAC		0.478	RIPK1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039659.2	NM_003804		8	49	0	0	0	0.00308	0	8	49					G	3077128	A	G	3077128	3	3	149	1	0	0	0	0	1	0	0	0	13380	275	10	4	73	4	RIPK1	6	3077128	Missense_Mutation	SNP	A	TCGA-G9-6332-01A-11D-1786-08	1465974	3077128	168037939	9	7331											
VARS	7407	broad.mit.edu	37	chr6	31752254	31752254	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caggcacggagagcagggtgCgacctgtcagctccttctta	8	8	13	12	2	2	1	1	0	1	1	3	3	3	1	2	3	3	3	2	3	1	2	rs199533729		TCGA-G9-6332-01A-11D-1786-08	TCGA-G9-6332-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50f0a6a4-1453-4dc2-b963-53a6075ce4cd	23c4ade3-dc70-4bd0-95f0-c7be9eec4d99	g.chr6:31752254C>T	ENST00000375663.3	-	12	1933	c.1493G>A	c.(1492-1494)cGc>cAc	p.R498H	VARS_ENST00000444930.2_Missense_Mutation_p.R203H|VARS_ENST00000482996.1_5'Flank	NM_006295.2	NP_006286.1	P26640	SYVC_HUMAN	valyl-tRNA synthetase	498					gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)|valyl-tRNA aminoacylation (GO:0006438)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|valine-tRNA ligase activity (GO:0004832)	p.R498H(2)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	30					L-Valine(DB00161)	GAGCAGGGTGCGACCTGTCAG	0.597																																						ENST00000375663.3																			2	Substitution - Missense(2)	p.R498H(2)	prostate(1)|lung(1)	central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	30						c.(1492-1494)cGc>cAc		valyl-tRNA synthetase	L-Valine(DB00161)						73	77	76					6																	31752254		2203	4300	6503	SO:0001583	missense	7407				translational elongation|valyl-tRNA aminoacylation	cytosol	ATP binding|protein binding|valine-tRNA ligase activity	g.chr6:31752254C>T	BC012808	CCDS34412.1	6p21.3	2011-07-01		2005-07-05	ENSG00000204394	ENSG00000204394	6.1.1.9	"Aminoacyl tRNA synthetases / Class I"	12651	protein-coding gene	gene with protein product	"valine tRNA ligase 1, cytoplasmic"	192150	"valyl-tRNA synthetase 2"	VARS2		15779907	Standard	XM_005249362		Approved		uc003nxe.3	P26640	OTTHUMG00000031286	ENST00000375663.3:c.1493G>A	6.37:g.31752254C>T	ENSP00000364815:p.Arg498His					VARS_ENST00000444930.2_Missense_Mutation_p.R203H	p.R498H	NM_006295.2	NP_006286.1	P26640	SYVC_HUMAN			12	1933	-			498					B0V1N1|B4DZ61|Q5JQ90|Q96E77|Q9UQM2	Missense_Mutation	SNP	ENST00000375663.3	37	c.1493G>A	CCDS34412.1	.	.	.	.	.	.	.	.	.	.	C	29.6	5.020064	0.93462	.	.	ENSG00000204394	ENST00000375663;ENST00000444930	T	0.04406	3.63	5.82	5.82	0.92795	Aminoacyl-tRNA synthetase, class Ia (1);	0.000000	0.85682	D	0.000000	T	0.16896	0.0406	M	0.83692	2.655	0.58432	D	0.999996	D	0.89917	1.0	D	0.83275	0.996	T	0.00824	-1.1551	10	0.35671	T	0.21	-13.372	17.587	0.87984	0.0:1.0:0.0:0.0	.	498	P26640	SYVC_HUMAN	H	498;203	ENSP00000364815:R498H	ENSP00000364815:R498H	R	-	2	0	VARS	31860233	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.403000	0.66338	2.747000	0.94245	0.655000	0.94253	CGC		0.597	VARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076619.2	NM_006295		25	56	0	0	0	0.00632	0	25	56					T	31752254	C	T	31752254	3	4	149	1	0	0	0	0	1	0	0	0	17120	768	27	1	2377	1	VARS	6	31752254	Missense_Mutation	SNP	C	TCGA-G9-6332-01A-11D-1786-08	28675126	31752254	139362813	10	7332											
ATF6B	1388	broad.mit.edu	37	chr6	32093899	32093899	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aggctgttttattacctgagGaatcatcagaggtggggata	11	12	13	5	0	2	2	2	1	0	1	2	4	2	4	1	5	1	2	1	5	4	4			TCGA-G9-6332-01A-11D-1786-08	TCGA-G9-6332-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50f0a6a4-1453-4dc2-b963-53a6075ce4cd	23c4ade3-dc70-4bd0-95f0-c7be9eec4d99	g.chr6:32093899G>T	ENST00000375203.3	-	5	505	c.473C>A	c.(472-474)tCc>tAc	p.S158Y	ATF6B_ENST00000468502.1_5'UTR|ATF6B_ENST00000375201.4_Missense_Mutation_p.S155Y	NM_001136153.1|NM_004381.4	NP_001129625.1|NP_004372.3	Q99941	ATF6B_HUMAN	activating transcription factor 6 beta	158					response to unfolded protein (GO:0006986)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.S158Y(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|prostate(2)|skin(1)|urinary_tract(1)	22						ATTACCTGAGGAATCATCAGA	0.507																																						ENST00000375201.4																			1	Substitution - Missense(1)	p.S158Y(1)	prostate(1)	endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|prostate(2)|skin(1)|urinary_tract(1)	22						c.(463-465)tCc>tAc		activating transcription factor 6 beta							151	135	140					6																	32093899		2203	4300	6503	SO:0001583	missense	1388				response to unfolded protein|signal transduction	endoplasmic reticulum membrane|integral to membrane|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr6:32093899G>T		CCDS47408.1, CCDS4737.1	6p21.3	2013-01-10	2008-10-21	2008-10-21	ENSG00000213676	ENSG00000213676		"basic leucine zipper proteins"	2349	protein-coding gene	gene with protein product		600984	"cAMP responsive element binding protein-like 1"	CREBL1		11256944, 14973138	Standard	NM_004381		Approved	G13	uc003nzn.3	Q99941	OTTHUMG00000031296	ENST00000375203.3:c.473C>A	6.37:g.32093899G>T	ENSP00000364349:p.Ser158Tyr					ATF6B_ENST00000375203.3_Missense_Mutation_p.S158Y|ATF6B_ENST00000468502.1_5'UTR	p.S155Y			Q99941	ATF6B_HUMAN			5	509	-			158					B0UYX6|Q13269|Q14343|Q14345|Q5SSW7|Q99635|Q99637|Q9H3V9|Q9H3W1|Q9NPL0	Missense_Mutation	SNP	ENST00000375203.3	37	c.464C>A	CCDS4737.1	.	.	.	.	.	.	.	.	.	.	G	0.019	-1.454131	0.01071	.	.	ENSG00000213676	ENST00000375203;ENST00000375201	T;T	0.56275	0.47;1.19	5.01	1.21	0.21127	.	0.433718	0.17612	U	0.168048	T	0.15046	0.0363	L	0.27053	0.805	0.09310	N	1	P;B;B	0.43094	0.799;0.415;0.105	B;B;B	0.38020	0.263;0.179;0.054	T	0.07158	-1.0787	10	0.48119	T	0.1	-1.009	4.3729	0.11256	0.2812:0.1651:0.5537:0.0	.	158;155;158	Q96QL7;Q99941-2;Q99941	.;.;ATF6B_HUMAN	Y	158;155	ENSP00000364349:S158Y;ENSP00000364347:S155Y	ENSP00000364347:S155Y	S	-	2	0	ATF6B	32201877	0.693000	0.27728	0.065000	0.19835	0.703000	0.40648	1.271000	0.33098	0.042000	0.15717	-0.872000	0.02987	TCC		0.507	ATF6B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000076638.2			42	81	1	0	5.7616e-29	0.01441	7.51513e-29	42	81					T	32093899	G	T	32093899	3	4	149	1	0	0	0	0	1	0	0	0	1085	1174	41	5	1694	5	ATF6B	6	32093899	Missense_Mutation	SNP	G	TCGA-G9-6332-01A-11D-1786-08	341645	32093899	139021168	11	7333											
LIMK1	3984	broad.mit.edu	37	chr7	73498339	73498339	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcatgaggttgacgctacttTgttgcacctggagggaagaa	10	10	14	7	1	0	3	0	2	0	1	0	5	0	5	1	3	2	5	1	3	3	4			TCGA-G9-6332-01A-11D-1786-08	TCGA-G9-6332-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50f0a6a4-1453-4dc2-b963-53a6075ce4cd	23c4ade3-dc70-4bd0-95f0-c7be9eec4d99	g.chr7:73498339T>G	ENST00000336180.2	+	1	70	c.19T>G	c.(19-21)Tgt>Ggt	p.C7G	LIMK1_ENST00000418310.1_Intron	NM_002314.3	NP_002305.1	P53667	LIMK1_HUMAN	LIM domain kinase 1	7					actin cytoskeleton organization (GO:0030036)|axon guidance (GO:0007411)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|negative regulation of ubiquitin-protein transferase activity (GO:0051444)|nervous system development (GO:0007399)|positive regulation of actin filament bundle assembly (GO:0032233)|positive regulation of axon extension (GO:0045773)|positive regulation of stress fiber assembly (GO:0051496)|protein phosphorylation (GO:0006468)|Rho protein signal transduction (GO:0007266)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|neuron projection (GO:0043005)|nucleus (GO:0005634)	ATP binding (GO:0005524)|heat shock protein binding (GO:0031072)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	21		Lung NSC(55;0.137)			Dabrafenib(DB08912)	GACGCTACTTTGTTGCACCTG	0.776																																						ENST00000336180.2																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	21						c.(19-21)Tgt>Ggt		LIM domain kinase 1							11	11	11					7																	73498339		2143	4193	6336	SO:0001583	missense	3984				actin cytoskeleton organization|axon guidance|negative regulation of ubiquitin-protein ligase activity|positive regulation of actin filament bundle assembly|positive regulation of axon extension|Rho protein signal transduction	cytosol|growth cone|nucleus	ATP binding|heat shock protein binding|protein serine/threonine kinase activity|zinc ion binding	g.chr7:73498339T>G	D26309	CCDS5563.1, CCDS56491.1	7q11.23	2005-01-21			ENSG00000106683	ENSG00000106683			6613	protein-coding gene	gene with protein product		601329				8673124, 8812460	Standard	NM_002314		Approved	LIMK	uc003uaa.2	P53667	OTTHUMG00000023448	ENST00000336180.2:c.19T>G	7.37:g.73498339T>G	ENSP00000336740:p.Cys7Gly					LIMK1_ENST00000418310.1_Intron	p.C7G	NM_002314.3	NP_002305.1	P53667	LIMK1_HUMAN			1	70	+		Lung NSC(55;0.137)	7					B7Z6I8|D3DXF4|D3DXF5|O15283|Q15820|Q15821|Q75MU3|Q9Y5Q1	Missense_Mutation	SNP	ENST00000336180.2	37	c.19T>G	CCDS5563.1	.	.	.	.	.	.	.	.	.	.	t	10.08	1.252214	0.22880	.	.	ENSG00000106683	ENST00000419043;ENST00000336180	T	0.74632	-0.86	2.77	2.77	0.32553	.	0.000000	0.85682	U	0.000000	T	0.67515	0.2901	L	0.60455	1.87	0.80722	D	1	B	0.18013	0.025	B	0.21708	0.036	T	0.66724	-0.5851	10	0.87932	D	0	.	7.4141	0.27034	0.0:0.0:0.0:1.0	.	7	P53667	LIMK1_HUMAN	G	7	ENSP00000336740:C7G	ENSP00000336740:C7G	C	+	1	0	LIMK1	73136275	1.000000	0.71417	1.000000	0.80357	0.193000	0.23685	4.471000	0.60182	1.043000	0.40175	0.156000	0.16432	TGT		0.776	LIMK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252335.2	NM_002314		4	5	0	0	0	0.009096	0	4	5					G	73498339	T	G	73498339	3	3	149	1	0	0	0	0	1	0	0	0	8801	1812	63	5	21	5	LIMK1	7	73498339	Missense_Mutation	SNP	T	TCGA-G9-6332-01A-11D-1786-08		73498339	85640324	12	7334											
CSMD3	114788	broad.mit.edu	37	chr8	113529332	113529332	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aatgcaggttattctttcctCtccttgaagttcatatcctg	8	17	6	10	0	3	1	1	1	2	0	6	1	5	1	3	1	1	3	3	1	4	6			TCGA-G9-6332-01A-11D-1786-08	TCGA-G9-6332-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50f0a6a4-1453-4dc2-b963-53a6075ce4cd	23c4ade3-dc70-4bd0-95f0-c7be9eec4d99	g.chr8:113529332C>T	ENST00000297405.5	-	28	4931	c.4687G>A	c.(4687-4689)Gag>Aag	p.E1563K	CSMD3_ENST00000455883.2_Missense_Mutation_p.E1459K|CSMD3_ENST00000343508.3_Missense_Mutation_p.E1523K|CSMD3_ENST00000352409.3_Missense_Mutation_p.E1563K	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1563	Sushi 8. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.E1563K(1)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						ATTCTTTCCTCTCCTTGAAGT	0.438										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												ENST00000297405.5																			1	Substitution - Missense(1)	p.E1563K(1)	prostate(1)	breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						c.(4687-4689)Gag>Aag		CUB and Sushi multiple domains 3							131	121	124					8																	113529332		2203	4300	6503	SO:0001583	missense	114788					integral to membrane|plasma membrane		g.chr8:113529332C>T	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.4687G>A	8.37:g.113529332C>T	ENSP00000297405:p.Glu1563Lys	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_ENST00000352409.3_Missense_Mutation_p.E1563K|CSMD3_ENST00000455883.2_Missense_Mutation_p.E1459K|CSMD3_ENST00000343508.3_Missense_Mutation_p.E1523K	p.E1563K	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN			28	4931	-			1563			Sushi 8.		Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	c.4687G>A	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	C	12.49	1.953388	0.34471	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.64260	-0.09;-0.09;-0.09;-0.09;-0.09	4.88	3.05	0.35203	Complement control module (2);Sushi/SCR/CCP (3);	0.240484	0.33938	N	0.004414	T	0.57489	0.2057	L	0.58583	1.82	0.30635	N	0.75703	B;B;B	0.14012	0.009;0.004;0.0	B;B;B	0.15484	0.012;0.013;0.002	T	0.54820	-0.8236	10	0.23891	T	0.37	.	15.7115	0.77631	0.0:0.8033:0.1967:0.0	.	1459;1563;1523	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	K	1523;1563;903;1459;1563	ENSP00000345799:E1523K;ENSP00000297405:E1563K;ENSP00000341558:E903K;ENSP00000412263:E1459K;ENSP00000343124:E1563K	ENSP00000297405:E1563K	E	-	1	0	CSMD3	113598508	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.617000	0.46385	0.628000	0.30357	0.585000	0.79938	GAG		0.438	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		32	66	0	0	0	0.009535	0	32	66					T	113529332	C	T	113529332	3	4	149	1	0	0	0	0	1	0	0	0	3946	922	32	3	6612	3	CSMD3	8	113529332	Missense_Mutation	SNP	C	TCGA-G9-6332-01A-11D-1786-08		113529332	32834690	13	7335											
SEPHS1	22929	broad.mit.edu	37	chr10	13375855	13375855	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggcagacagtggtagccacTcctcccaggacaatccaggg	10	6	12	13	0	0	1	0	0	0	1	3	2	3	2	4	4	1	2	4	4	2	1			TCGA-G9-6332-01A-11D-1786-08	TCGA-G9-6332-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50f0a6a4-1453-4dc2-b963-53a6075ce4cd	23c4ade3-dc70-4bd0-95f0-c7be9eec4d99	g.chr10:13375855T>C	ENST00000327347.5	-	5	897	c.522A>G	c.(520-522)ggA>ggG	p.G174G	SEPHS1_ENST00000545675.1_Silent_p.G174G|SEPHS1_ENST00000378614.4_Silent_p.G174G|SEPHS1_ENST00000537130.1_Silent_p.G107G	NM_001195602.1|NM_012247.4	NP_001182531.1|NP_036379.2	P49903	SPS1_HUMAN	selenophosphate synthetase 1	174					cellular protein modification process (GO:0006464)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|selenide, water dikinase activity (GO:0004756)	p.G174G(2)		cervix(1)|endometrium(3)|large_intestine(3)|lung(6)|prostate(1)|skin(1)|stomach(1)	16						TGGTAGCCACTCCTCCCAGGA	0.438																																						ENST00000327347.5																			2	Substitution - coding silent(2)	p.G174G(2)	prostate(2)	cervix(1)|endometrium(3)|large_intestine(3)|lung(6)|prostate(1)|skin(1)|stomach(1)	16						c.(520-522)ggA>ggG		selenophosphate synthetase 1							89	85	86					10																	13375855		2203	4300	6503	SO:0001819	synonymous_variant	22929				protein modification process		ATP binding|GTP binding|selenide, water dikinase activity	g.chr10:13375855T>C	BC000941	CCDS7098.1, CCDS55702.1, CCDS55703.1	10p14	2006-10-06			ENSG00000086475	ENSG00000086475			19685	protein-coding gene	gene with protein product		600902				7665581	Standard	NM_012247		Approved	SPS, SPS1	uc001imk.3	P49903	OTTHUMG00000017696	ENST00000327347.5:c.522A>G	10.37:g.13375855T>C						SEPHS1_ENST00000378614.4_Silent_p.G174G|SEPHS1_ENST00000545675.1_Silent_p.G174G|SEPHS1_ENST00000537130.1_Silent_p.G107G	p.G174G	NM_001195602.1|NM_012247.4	NP_001182531.1|NP_036379.2	P49903	SPS1_HUMAN			5	897	-			174					B4DWK0|D3DRS9|D6PSQ9|Q5T5U8|Q5T5U9|Q9BVT4	Silent	SNP	ENST00000327347.5	37	c.522A>G	CCDS7098.1																																																																																				0.438	SEPHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046856.1	NM_012247		16	28	0	0	0	0.00499	0	16	28					C	13375855	T	C	13375855	2	2	149	1	0	0	0	0	0	0	0	1	14054	1538	54	4		4	SEPHS1	10	13375855	Silent	SNP	T	TCGA-G9-6332-01A-11D-1786-08		13375855	122158892	14	7336											
HPS1	3257	broad.mit.edu	37	chr10	100177455	100177455	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctgacagcctcggttgggcGgttcttgctgtagtagcgca	5	11	14	11	3	1	1	0	1	1	0	2	1	1	1	2	3	3	6	2	3	2	5			TCGA-G9-6332-01A-11D-1786-08	TCGA-G9-6332-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50f0a6a4-1453-4dc2-b963-53a6075ce4cd	23c4ade3-dc70-4bd0-95f0-c7be9eec4d99	g.chr10:100177455G>A	ENST00000325103.6	-	20	2202	c.1969C>T	c.(1969-1971)Cgc>Tgc	p.R657C	HPS1_ENST00000361490.4_Missense_Mutation_p.R657C|HPS1_ENST00000467246.1_5'UTR|PYROXD2_ENST00000370575.4_5'Flank	NM_000195.3	NP_000186.2	Q92902	HPS1_HUMAN	Hermansky-Pudlak syndrome 1	657					blood coagulation (GO:0007596)|eye pigmentation (GO:0048069)|lysosome organization (GO:0007040)|melanocyte differentiation (GO:0030318)|positive regulation of natural killer cell activation (GO:0032816)|retina development in camera-type eye (GO:0060041)|secretion of lysosomal enzymes (GO:0033299)|visual perception (GO:0007601)	BLOC-3 complex (GO:0031085)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)	protein dimerization activity (GO:0046983)	p.R657C(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(9)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	23		Colorectal(252;0.234)		Epithelial(162;3.87e-12)|all cancers(201;5.63e-10)		TCGGTTGGGCGGTTCTTGCTG	0.662									Hermansky-Pudlak syndrome																													ENST00000325103.6																			1	Substitution - Missense(1)	p.R657C(1)	prostate(1)	breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(9)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	23						c.(1969-1971)Cgc>Tgc		Hermansky-Pudlak syndrome 1							69	63	65					10																	100177455		2203	4300	6503	SO:0001583	missense	3257	Hermansky-Pudlak syndrome	Familial Cancer Database	HPS, HPS1-8	lysosome organization|response to stimulus|visual perception	cytoplasmic membrane-bounded vesicle|integral to plasma membrane|lysosome|membrane fraction|soluble fraction	protein dimerization activity	g.chr10:100177455G>A	U79136	CCDS7475.1, CCDS7476.1	10q23.1-q23.3	2014-06-18		2002-05-01	ENSG00000107521	ENSG00000107521			5163	protein-coding gene	gene with protein product		604982	"Hermansky-Pudlak syndrome"	HPS		8541858, 7573033	Standard	NM_182639		Approved		uc021pwv.1	Q92902	OTTHUMG00000018876	ENST00000325103.6:c.1969C>T	10.37:g.100177455G>A	ENSP00000326649:p.Arg657Cys					HPS1_ENST00000361490.4_Missense_Mutation_p.R657C|HPS1_ENST00000467246.1_5'UTR	p.R657C	NM_000195.3	NP_000186.2	Q92902	HPS1_HUMAN		Epithelial(162;3.87e-12)|all cancers(201;5.63e-10)	20	2202	-		Colorectal(252;0.234)	657					A8MRT2|O15402|O15502|Q5TAA3|Q8WXE5	Missense_Mutation	SNP	ENST00000325103.6	37	c.1969C>T	CCDS7475.1	.	.	.	.	.	.	.	.	.	.	G	18.54	3.646100	0.67358	.	.	ENSG00000107521	ENST00000325103;ENST00000361490;ENST00000407891	T;T	0.33438	1.41;1.41	5.5	4.59	0.56863	.	0.252703	0.46442	D	0.000298	T	0.36880	0.0983	L	0.44542	1.39	0.80722	D	1	D;D	0.71674	0.998;0.997	P;P	0.52856	0.599;0.711	T	0.03524	-1.1028	10	0.38643	T	0.18	.	13.7676	0.63004	0.0735:0.0:0.9265:0.0	.	624;658	Q92902-2;D3DR62	.;.	C	657;657;624	ENSP00000326649:R657C;ENSP00000355310:R657C	ENSP00000326649:R657C	R	-	1	0	HPS1	100167445	1.000000	0.71417	0.998000	0.56505	0.533000	0.34776	7.607000	0.82883	2.593000	0.87608	0.456000	0.33151	CGC		0.662	HPS1-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049776.1	NM_000195, NM_182637, NM_182638, NM_182639		21	31	0	0	0	0.00333	0	21	31					A	100177455	G	A	100177455	3	1	149	1	0	0	0	0	1	0	0	0	7339	1116	39	2	137	2	HPS1	10	100177455	Missense_Mutation	SNP	G	TCGA-G9-6332-01A-11D-1786-08	86801600	100177455	35357292	15	7337											
KCNJ11	3767	broad.mit.edu	37	chr11	17409274	17409274	+	Missense_Mutation	SNP	A	A	C																															cttggacctcaatggagaaaAggaaggcagacgagaaggag																										TCGA-G9-6332-01A-11D-1786-08	TCGA-G9-6332-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50f0a6a4-1453-4dc2-b963-53a6075ce4cd	23c4ade3-dc70-4bd0-95f0-c7be9eec4d99	g.chr11:17409274A>C	ENST00000339994.4	-	1	932	c.365T>G	c.(364-366)cTt>cGt	p.L122R	KCNJ11_ENST00000528731.1_Missense_Mutation_p.L35R|KCNJ11_ENST00000526747.1_5'Flank	NM_000525.3	NP_000516.3	Q14654	KCJ11_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 11	122					cellular response to glucose stimulus (GO:0071333)|cellular response to nicotine (GO:0071316)|cellular response to tumor necrosis factor (GO:0071356)|energy reserve metabolic process (GO:0006112)|glucose metabolic process (GO:0006006)|negative regulation of insulin secretion (GO:0046676)|neurological system process (GO:0050877)|positive regulation of cation channel activity (GO:2001259)|potassium ion import (GO:0010107)|potassium ion transmembrane transport (GO:0071805)|regulation of insulin secretion (GO:0050796)|regulation of membrane potential (GO:0042391)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ischemia (GO:0002931)|response to testosterone (GO:0033574)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	ATP-sensitive potassium channel complex (GO:0008282)|axolemma (GO:0030673)|cell body fiber (GO:0070852)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|mitochondrion (GO:0005739)|myelin sheath (GO:0043209)|neuronal cell body (GO:0043025)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)|T-tubule (GO:0030315)|voltage-gated potassium channel complex (GO:0008076)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|ATP-activated inward rectifier potassium channel activity (GO:0015272)|ion channel binding (GO:0044325)|potassium ion binding (GO:0030955)|voltage-gated potassium channel activity (GO:0005249)	p.L122R(1)		endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|prostate(3)|skin(2)	16				READ - Rectum adenocarcinoma(2;0.0276)|Colorectal(2;0.0633)	Diazoxide(DB01119)|Glimepiride(DB00222)|Glyburide(DB01016)|Ibutilide(DB00308)|Levosimendan(DB00922)|Thiamylal(DB01154)|Verapamil(DB00661)|Yohimbine(DB01392)	AATGGAGAAAAGGAAGGCAGA	0.607																																						ENST00000339994.4																			1	Substitution - Missense(1)	p.L122R(1)	prostate(1)	endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|prostate(3)|skin(2)	16						c.(364-366)cTt>cGt		potassium inwardly-rectifying channel, subfamily J, member 11							123	98	106					11																	17409274		2200	4293	6493	SO:0001583	missense	3767					integral to membrane	ATP-activated inward rectifier potassium channel activity	g.chr11:17409274A>C	D50582	CCDS31436.1, CCDS53606.1	11p15.1	2011-07-05						"Potassium channels", "Voltage-gated ion channels / Potassium channels, Inwardly rectifying"	6257	protein-coding gene	gene with protein product		600937				7502040, 16382105	Standard	NM_001166290		Approved	Kir6.2, BIR	uc001mna.3	Q14654		ENST00000339994.4:c.365T>G	11.37:g.17409274A>C	ENSP00000345708:p.Leu122Arg					KCNJ11_ENST00000528731.1_Missense_Mutation_p.L35R	p.L122R	NM_000525.3	NP_000516.3	B4DWI4	B4DWI4_HUMAN		READ - Rectum adenocarcinoma(2;0.0276)|Colorectal(2;0.0633)	1	932	-			35					B4DWI4|E9PNK0|Q2M1H7|Q58EX3|Q8IW96	Missense_Mutation	SNP	ENST00000339994.4	37	c.365T>G	CCDS31436.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	14.50|14.50	2.552866|2.552866	0.45487|0.45487	.|.	.|.	ENSG00000187486|ENSG00000187486	ENST00000528992|ENST00000339994;ENST00000528731;ENST00000526912	.|D;D;D	.|0.96200	.|-3.94;-3.94;-3.94	5.02|5.02	5.02|5.02	0.67125|0.67125	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.95297|0.95297	0.8474|0.8474	M|M	0.87547|0.87547	2.89|2.89	0.80722|0.80722	D|D	1|1	.|B	.|0.31519	.|0.327	.|B	.|0.28011	.|0.085	D|D	0.95048|0.95048	0.8184|0.8184	5|10	.|0.72032	.|D	.|0.01	.|.	14.4217|14.4217	0.67187|0.67187	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|122	.|B2RC52	.|.	V|R	128|122;35;35	.|ENSP00000345708:L122R;ENSP00000434755:L35R;ENSP00000432729:L35R	.|ENSP00000345708:L122R	F|L	-|-	1|2	0|0	KCNJ11|KCNJ11	17365850|17365850	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.938000|0.938000	0.57974|0.57974	9.339000|9.339000	0.96797|0.96797	1.896000|1.896000	0.54893|0.54893	0.379000|0.379000	0.24179|0.24179	TTT|CTT		0.607	KCNJ11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387037.1	NM_000525		8	41	0	0	0	0.004482	0	8	41					C	17409274	A	C	17409274	3	2	149	1	0	0	0	0	1	0	0	0	8045	72	3	5	811	5	KCNJ11	11	17409274	Missense_Mutation	SNP	A	TCGA-G9-6332-01A-11D-1786-08		17409274	117597242	16	7338	42	2									
KCNJ11	3767	broad.mit.edu	37	chr11	17409276	17409276	+	Silent	SNP	G	G	A																															tggacctcaatggagaaaagGaaggcagacgagaaggagtg																										TCGA-G9-6332-01A-11D-1786-08	TCGA-G9-6332-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50f0a6a4-1453-4dc2-b963-53a6075ce4cd	23c4ade3-dc70-4bd0-95f0-c7be9eec4d99	g.chr11:17409276G>A	ENST00000339994.4	-	1	930	c.363C>T	c.(361-363)ttC>ttT	p.F121F	KCNJ11_ENST00000528731.1_Silent_p.F34F|KCNJ11_ENST00000526747.1_5'Flank	NM_000525.3	NP_000516.3	Q14654	KCJ11_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 11	121					cellular response to glucose stimulus (GO:0071333)|cellular response to nicotine (GO:0071316)|cellular response to tumor necrosis factor (GO:0071356)|energy reserve metabolic process (GO:0006112)|glucose metabolic process (GO:0006006)|negative regulation of insulin secretion (GO:0046676)|neurological system process (GO:0050877)|positive regulation of cation channel activity (GO:2001259)|potassium ion import (GO:0010107)|potassium ion transmembrane transport (GO:0071805)|regulation of insulin secretion (GO:0050796)|regulation of membrane potential (GO:0042391)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ischemia (GO:0002931)|response to testosterone (GO:0033574)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	ATP-sensitive potassium channel complex (GO:0008282)|axolemma (GO:0030673)|cell body fiber (GO:0070852)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|mitochondrion (GO:0005739)|myelin sheath (GO:0043209)|neuronal cell body (GO:0043025)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)|T-tubule (GO:0030315)|voltage-gated potassium channel complex (GO:0008076)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|ATP-activated inward rectifier potassium channel activity (GO:0015272)|ion channel binding (GO:0044325)|potassium ion binding (GO:0030955)|voltage-gated potassium channel activity (GO:0005249)	p.F121F(1)		endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|prostate(3)|skin(2)	16				READ - Rectum adenocarcinoma(2;0.0276)|Colorectal(2;0.0633)	Diazoxide(DB01119)|Glimepiride(DB00222)|Glyburide(DB01016)|Ibutilide(DB00308)|Levosimendan(DB00922)|Thiamylal(DB01154)|Verapamil(DB00661)|Yohimbine(DB01392)	TGGAGAAAAGGAAGGCAGACG	0.607																																						ENST00000339994.4																			1	Substitution - coding silent(1)	p.F121F(1)	prostate(1)	endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|prostate(3)|skin(2)	16						c.(361-363)ttC>ttT		potassium inwardly-rectifying channel, subfamily J, member 11							124	98	107					11																	17409276		2200	4293	6493	SO:0001819	synonymous_variant	3767					integral to membrane	ATP-activated inward rectifier potassium channel activity	g.chr11:17409276G>A	D50582	CCDS31436.1, CCDS53606.1	11p15.1	2011-07-05						"Potassium channels", "Voltage-gated ion channels / Potassium channels, Inwardly rectifying"	6257	protein-coding gene	gene with protein product		600937				7502040, 16382105	Standard	NM_001166290		Approved	Kir6.2, BIR	uc001mna.3	Q14654		ENST00000339994.4:c.363C>T	11.37:g.17409276G>A						KCNJ11_ENST00000528731.1_Silent_p.F34F	p.F121F	NM_000525.3	NP_000516.3	B4DWI4	B4DWI4_HUMAN		READ - Rectum adenocarcinoma(2;0.0276)|Colorectal(2;0.0633)	1	930	-			34					B4DWI4|E9PNK0|Q2M1H7|Q58EX3|Q8IW96	Silent	SNP	ENST00000339994.4	37	c.363C>T	CCDS31436.1	.	.	.	.	.	.	.	.	.	.	G	4.664	0.123395	0.08931	.	.	ENSG00000187486	ENST00000528992	.	.	.	5.02	4.11	0.48088	.	.	.	.	.	T	0.68035	0.2957	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.66504	-0.5907	4	.	.	.	.	13.1236	0.59340	0.0787:0.0:0.9213:0.0	.	.	.	.	F	127	.	.	S	-	2	0	KCNJ11	17365852	1.000000	0.71417	1.000000	0.80357	0.917000	0.54804	3.549000	0.53681	1.126000	0.42016	0.462000	0.41574	TCC		0.607	KCNJ11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387037.1	NM_000525		8	41	0	0	0	0.006214	0	8	41					A	17409276	G	A	17409276	2	1	149	1	0	0	0	0	0	0	0	1	8045	1165	41	3		3	KCNJ11	11	17409276	Silent	SNP	G	TCGA-G9-6332-01A-11D-1786-08	2	17409276	117597240	17	7339	42	2									
CCDC34	91057	broad.mit.edu	37	chr11	27379087	27379087	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attttctgattcaacctgagTgctacaaaagagaggctact	13	12	8	8	0	2	3	1	2	1	1	2	4	2	3	1	1	4	2	1	1	5	5			TCGA-G9-6332-01A-11D-1786-08	TCGA-G9-6332-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50f0a6a4-1453-4dc2-b963-53a6075ce4cd	23c4ade3-dc70-4bd0-95f0-c7be9eec4d99	g.chr11:27379087T>C	ENST00000328697.6	-	2	1034	c.361A>G	c.(361-363)Act>Gct	p.T121A	CCDC34_ENST00000317945.6_Splice_Site_p.T121A	NM_030771.1	NP_110398.1	Q96HJ3	CCD34_HUMAN	coiled-coil domain containing 34	121								p.T121A(2)		endometrium(2)|large_intestine(4)|lung(1)|prostate(1)|urinary_tract(1)	9						TCAACCTGAGTGCTACAAAAG	0.398																																						ENST00000317945.6																			2	Substitution - Missense(2)	p.T121A(2)	prostate(2)	endometrium(2)|large_intestine(4)|lung(1)|prostate(1)|urinary_tract(1)	9						c.e2-1		coiled-coil domain containing 34							118	110	113					11																	27379087		2202	4299	6501	SO:0001630	splice_region_variant	91057							g.chr11:27379087T>C	AF382034	CCDS7863.1, CCDS31448.1	11p14.1	2010-03-30			ENSG00000109881	ENSG00000109881			25079	protein-coding gene	gene with protein product		612324				11173847	Standard	NM_080654		Approved	NY-REN-41, L15, RAMA3	uc001mrh.1	Q96HJ3	OTTHUMG00000166211	ENST00000328697.6:c.360-1A>G	11.37:g.27379087T>C						CCDC34_ENST00000328697.6_Splice_Site_p.T121_splice	p.T121_splice	NM_080654.2	NP_542385.1	Q96HJ3	CCD34_HUMAN			2	400	-			121					B2R8G2|Q8IX69|Q9H2A6|Q9Y599	Splice_Site	SNP	ENST00000328697.6	37	c.359_splice	CCDS31448.1	.	.	.	.	.	.	.	.	.	.	T	8.958	0.969909	0.18659	.	.	ENSG00000109881	ENST00000328697;ENST00000317945	T;T	0.21734	1.99;1.99	5.17	-0.093	0.13652	.	1.051550	0.07402	N	0.891014	T	0.08758	0.0217	N	0.14661	0.345	0.09310	N	1	B;B	0.09022	0.002;0.0	B;B	0.04013	0.001;0.001	T	0.34477	-0.9827	10	0.05351	T	0.99	1.6188	3.329	0.07077	0.2718:0.1758:0.0:0.5524	.	121;121	Q96HJ3-2;Q96HJ3	.;CCD34_HUMAN	A	121	ENSP00000330240:T121A;ENSP00000321563:T121A	ENSP00000321563:T121A	T	-	1	0	CCDC34	27335663	0.007000	0.16637	0.000000	0.03702	0.179000	0.23085	1.496000	0.35638	-0.110000	0.12022	-0.263000	0.10527	ACT		0.398	CCDC34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388396.2	NM_030771	Missense_Mutation	17	75	0	0	0	0.00499	0	17	75					C	27379087	T	C	27379087	5	2	149	1	0	0	0	0	0	0	1	0	2807	1710	59	4	864	4	CCDC34	11	27379087	Splice_Site	SNP	T	TCGA-G9-6332-01A-11D-1786-08	9969811	27379087	107627429	18	7340											
OR4C3	256144	broad.mit.edu	37	chr11	48347071	48347071	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggtcctttggttgcccttCtgtgggcccaatgtgatcaa	5	14	11	11	0	2	1	1	1	1	0	3	1	3	1	3	3	1	1	3	3	2	3	rs138317832		TCGA-G9-6332-01A-11D-1786-08	TCGA-G9-6332-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50f0a6a4-1453-4dc2-b963-53a6075ce4cd	23c4ade3-dc70-4bd0-95f0-c7be9eec4d99	g.chr11:48347071C>A	ENST00000319856.4	+	1	600	c.579C>A	c.(577-579)ttC>ttA	p.F193L		NM_001004702.1	NP_001004702.1	Q8NH37	OR4C3_HUMAN	olfactory receptor, family 4, subfamily C, member 3	166						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.F193L(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	32						GGTTGCCCTTCTGTGGGCCCA	0.532																																						ENST00000319856.4																			1	Substitution - Missense(1)	p.F193L(1)	prostate(1)	breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	32						c.(577-579)ttC>ttA		olfactory receptor, family 4, subfamily C, member 3		C	LEU/PHE	1,4401	2.1+/-5.4	0,1,2200	177	158	165		579	4.9	1	11	dbSNP_134	165	0,8596		0,0,4298	no	missense	OR4C3	NM_001004702.1	22	0,1,6498	AA,AC,CC		0.0,0.0227,0.0077	probably-damaging	193/330	48347071	1,12997	2201	4298	6499	SO:0001583	missense	256144				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:48347071C>A	AB065567	CCDS31489.1	11p11.2	2012-08-09				ENSG00000176547		"GPCR / Class A : Olfactory receptors"	14697	protein-coding gene	gene with protein product							Standard	NM_001004702		Approved		uc010rhv.2	Q8NH37	OTTHUMG00000166579	ENST00000319856.4:c.579C>A	11.37:g.48347071C>A	ENSP00000321419:p.Phe193Leu						p.F193L	NM_001004702.1	NP_001004702.1	Q8NH37	OR4C3_HUMAN			1	600	+			166					B2RNF2|Q6IFB3	Missense_Mutation	SNP	ENST00000319856.4	37	c.579C>A	CCDS31489.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.053995	0.75960	2.27E-4	0.0	ENSG00000176547	ENST00000319856;ENST00000395239	T	0.00039	8.85	5.78	4.88	0.63580	GPCR, rhodopsin-like superfamily (1);	0.000000	0.53938	D	0.000041	T	0.00468	0.0015	M	0.85859	2.78	0.36084	D	0.842984	D	0.89917	1.0	D	0.97110	1.0	T	0.66670	-0.5865	10	0.87932	D	0	.	9.0108	0.36139	0.0:0.8341:0.0:0.1659	.	166	Q8NH37	OR4C3_HUMAN	L	193;56	ENSP00000321419:F193L	ENSP00000321419:F193L	F	+	3	2	OR4C3	48303647	0.976000	0.34144	1.000000	0.80357	0.903000	0.53119	0.645000	0.24782	1.495000	0.48549	0.478000	0.44815	TTC		0.532	OR4C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390557.1	NM_001004702		23	63	1	0	1.96895e-08	0.00278	2.46118e-08	23	63					A	48347071	C	A	48347071	3	1	149	1	0	0	0	0	1	0	0	0	11050	912	32	5	581	5	OR4C3	11	48347071	Missense_Mutation	SNP	C	TCGA-G9-6332-01A-11D-1786-08	20967984	48347071	86659445	19	7341											
MPEG1	219972	broad.mit.edu	37	chr11	58978336	58978336	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaaggtgataacaacagccAgaatggtggtgacccccact	13	6	10	12	0	0	3	0	2	0	1	0	3	0	3	4	3	3	0	4	3	4	1			TCGA-G9-6332-01A-11D-1786-08	TCGA-G9-6332-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50f0a6a4-1453-4dc2-b963-53a6075ce4cd	23c4ade3-dc70-4bd0-95f0-c7be9eec4d99	g.chr11:58978336A>C	ENST00000361050.3	-	1	2088	c.2003T>G	c.(2002-2004)cTg>cGg	p.L668R		NM_001039396.1	NP_001034485.1	Q2M385	MPEG1_HUMAN	macrophage expressed 1	668						integral component of membrane (GO:0016021)		p.L668R(1)		NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(21)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		all_epithelial(135;0.125)				AACAACAGCCAGAATGGTGGT	0.557																																						ENST00000361050.3																			1	Substitution - Missense(1)	p.L668R(1)	prostate(1)	NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(21)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						c.(2002-2004)cTg>cGg		macrophage expressed 1							120	126	124					11																	58978336		2044	4178	6222	SO:0001583	missense	219972					integral to membrane		g.chr11:58978336A>C	AK097211	CCDS41650.1	11q12.1	2013-07-31				ENSG00000197629			29619	protein-coding gene	gene with protein product	"macrophage expressed gene 1"	610390				7888681, 23257510	Standard	NM_001039396		Approved	MPG1	uc001nnu.4	Q2M385		ENST00000361050.3:c.2003T>G	11.37:g.58978336A>C	ENSP00000354335:p.Leu668Arg						p.L668R	NM_001039396.1	NP_001034485.1	Q2M385	MPEG1_HUMAN			1	2088	-		all_epithelial(135;0.125)	668					Q2M1T6|Q8TEF8	Missense_Mutation	SNP	ENST00000361050.3	37	c.2003T>G	CCDS41650.1	.	.	.	.	.	.	.	.	.	.	A	13.58	2.280229	0.40294	.	.	ENSG00000197629	ENST00000361050	T	0.29142	1.58	5.69	5.69	0.88448	.	0.143329	0.48286	D	0.000193	T	0.51398	0.1672	M	0.64997	1.995	0.44719	D	0.997717	D	0.89917	1.0	D	0.69307	0.963	T	0.53989	-0.8360	10	0.87932	D	0	-10.1694	13.4674	0.61263	1.0:0.0:0.0:0.0	.	668	Q2M385	MPEG1_HUMAN	R	668	ENSP00000354335:L668R	ENSP00000354335:L668R	L	-	2	0	MPEG1	58734912	1.000000	0.71417	0.527000	0.27925	0.063000	0.16089	7.592000	0.82676	2.166000	0.68216	0.533000	0.62120	CTG		0.557	MPEG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370027.1	NM_001039396		32	79	0	0	0	0.013726	0	32	79					C	58978336	A	C	58978336	3	2	149	1	0	0	0	0	1	0	0	0	9723	188	7	5	151	5	MPEG1	11	58978336	Missense_Mutation	SNP	A	TCGA-G9-6332-01A-11D-1786-08	10631265	58978336	76028180	20	7342											
OR4D9	390199	broad.mit.edu	37	chr11	59282589	59282589	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgctccgcaacctgtctatTcttgacatctgcttttcctc	5	16	5	15	1	3	1	0	1	3	0	6	1	5	1	3	0	3	3	3	0	2	5			TCGA-G9-6332-01A-11D-1786-08	TCGA-G9-6332-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50f0a6a4-1453-4dc2-b963-53a6075ce4cd	23c4ade3-dc70-4bd0-95f0-c7be9eec4d99	g.chr11:59282589T>G	ENST00000329328.3	+	1	204	c.204T>G	c.(202-204)atT>atG	p.I68M		NM_001004711.1	NP_001004711.1	Q8NGE8	OR4D9_HUMAN	olfactory receptor, family 4, subfamily D, member 9	68						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.I68M(1)		endometrium(1)|kidney(2)|large_intestine(3)|lung(14)|prostate(5)|upper_aerodigestive_tract(1)	26						ACCTGTCTATTCTTGACATCT	0.443																																						ENST00000329328.3																			1	Substitution - Missense(1)	p.I68M(1)	prostate(1)	endometrium(1)|kidney(2)|large_intestine(3)|lung(14)|prostate(5)|upper_aerodigestive_tract(1)	26						c.(202-204)atT>atG		olfactory receptor, family 4, subfamily D, member 9							198	189	192					11																	59282589		2201	4295	6496	SO:0001583	missense	390199				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:59282589T>G	AB065861	CCDS31564.1	11q12.1	2012-08-09	2003-12-15		ENSG00000172742	ENSG00000172742		"GPCR / Class A : Olfactory receptors"	15178	protein-coding gene	gene with protein product			"olfactory receptor, family 4, subfamily D, member 9 pseudogene"				Standard	NM_001004711		Approved		uc010rkv.2	Q8NGE8	OTTHUMG00000167343	ENST00000329328.3:c.204T>G	11.37:g.59282589T>G	ENSP00000328563:p.Ile68Met						p.I68M	NM_001004711.1	NP_001004711.1	Q8NGE8	OR4D9_HUMAN			1	204	+			68					Q6IFF3	Missense_Mutation	SNP	ENST00000329328.3	37	c.204T>G	CCDS31564.1	.	.	.	.	.	.	.	.	.	.	T	2.325	-0.354724	0.05138	.	.	ENSG00000172742	ENST00000329328	T	0.00551	6.65	3.76	-7.52	0.01341	GPCR, rhodopsin-like superfamily (1);	1.058250	0.07568	U	0.918069	T	0.00637	0.0021	L	0.42686	1.345	0.09310	N	1	B	0.25609	0.13	B	0.39419	0.299	T	0.36359	-0.9751	10	0.87932	D	0	.	7.6406	0.28292	0.1181:0.6117:0.1192:0.151	.	68	Q8NGE8	OR4D9_HUMAN	M	68	ENSP00000328563:I68M	ENSP00000328563:I68M	I	+	3	3	OR4D9	59039165	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-3.920000	0.00334	-2.078000	0.00872	-1.421000	0.01109	ATT		0.443	OR4D9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394237.1	NM_001004711		79	123	0	0	0	0.01441	0	79	123					G	59282589	T	G	59282589	3	3	149	1	0	0	0	0	1	0	0	0	11059	1771	62	5	206	5	OR4D9	11	59282589	Missense_Mutation	SNP	T	TCGA-G9-6332-01A-11D-1786-08	304253	59282589	75723927	21	7343											
SPTBN2	6712	broad.mit.edu	37	chr11	66457286	66457286	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cctcacccacctcctcggccGcatagtggctcctggccagc	5	7	9	20	2	1	0	1	0	0	0	4	0	3	0	7	3	1	2	7	3	1	1			TCGA-G9-6332-01A-11D-1786-08	TCGA-G9-6332-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50f0a6a4-1453-4dc2-b963-53a6075ce4cd	23c4ade3-dc70-4bd0-95f0-c7be9eec4d99	g.chr11:66457286G>A	ENST00000533211.1	-	29	6270	c.5939C>T	c.(5938-5940)gCg>gTg	p.A1980V	SPTBN2_ENST00000309996.2_Missense_Mutation_p.A1980V|SPTBN2_ENST00000529997.1_Missense_Mutation_p.A1980V			O15020	SPTN2_HUMAN	spectrin, beta, non-erythrocytic 2	1980					actin filament capping (GO:0051693)|adult behavior (GO:0030534)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon guidance (GO:0007411)|cell death (GO:0008219)|cerebellar Purkinje cell layer morphogenesis (GO:0021692)|multicellular organism growth (GO:0035264)|synapse assembly (GO:0007416)|vesicle-mediated transport (GO:0016192)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular space (GO:0005615)|neuronal cell body (GO:0043025)|spectrin (GO:0008091)	actin binding (GO:0003779)|phospholipid binding (GO:0005543)|structural constituent of cytoskeleton (GO:0005200)			autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	74						CTCCTCGGCCGCATAGTGGCT	0.602																																						ENST00000533211.1																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	74						c.(5938-5940)gCg>gTg		spectrin, beta, non-erythrocytic 2							92	99	97					11																	66457286		2200	4295	6495	SO:0001583	missense	6712				actin filament capping|axon guidance|cell death|vesicle-mediated transport	cytosol|spectrin	actin binding|structural constituent of cytoskeleton	g.chr11:66457286G>A	AB008567, AF026487, AF026488, AF079569	CCDS8150.1	11q13.2	2013-01-10			ENSG00000173898	ENSG00000173898		"Pleckstrin homology (PH) domain containing"	11276	protein-coding gene	gene with protein product		604985	"spinocerebellar ataxia 5"	SCA5		9826670, 16429157	Standard	NM_006946		Approved		uc001ojd.3	O15020	OTTHUMG00000167262	ENST00000533211.1:c.5939C>T	11.37:g.66457286G>A	ENSP00000432568:p.Ala1980Val					SPTBN2_ENST00000309996.2_Missense_Mutation_p.A1980V|SPTBN2_ENST00000529997.1_Missense_Mutation_p.A1980V	p.A1980V			O15020	SPTN2_HUMAN			29	6270	-			1980					O14872|O14873	Missense_Mutation	SNP	ENST00000533211.1	37	c.5939C>T	CCDS8150.1	.	.	.	.	.	.	.	.	.	.	G	33	5.284480	0.95517	.	.	ENSG00000173898	ENST00000533211;ENST00000309996;ENST00000529997	T;T;T	0.54279	0.58;0.58;0.58	5.12	5.12	0.69794	.	0.000000	0.85682	D	0.000000	T	0.73171	0.3553	M	0.88906	2.99	0.80722	D	1	D	0.76494	0.999	P	0.59221	0.854	T	0.74768	-0.3553	10	0.33141	T	0.24	.	17.4906	0.87702	0.0:0.0:1.0:0.0	.	1980	O15020	SPTN2_HUMAN	V	1980	ENSP00000432568:A1980V;ENSP00000311489:A1980V;ENSP00000433593:A1980V	ENSP00000311489:A1980V	A	-	2	0	SPTBN2	66213862	1.000000	0.71417	0.814000	0.32528	0.895000	0.52256	5.519000	0.67074	2.664000	0.90586	0.655000	0.94253	GCG		0.602	SPTBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393892.2	NM_006946		4	141	0	0	0	0.009096	0	4	141					A	66457286	G	A	66457286	3	1	149	1	0	0	0	0	1	0	0	0	15119	1087	38	1	1273	1	SPTBN2	11	66457286	Missense_Mutation	SNP	G	TCGA-G9-6332-01A-11D-1786-08	7174697	66457286	68549230	22	7344											
ADRBK1	156	broad.mit.edu	37	chr11	67052768	67052768	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	catgtgcagagcgaccctgaGctggtgcagtggaagaagga	11	6	16	8	1	0	3	0	1	0	2	0	6	0	5	1	3	4	3	1	3	2	0			TCGA-G9-6332-01A-11D-1786-08	TCGA-G9-6332-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50f0a6a4-1453-4dc2-b963-53a6075ce4cd	23c4ade3-dc70-4bd0-95f0-c7be9eec4d99	g.chr11:67052768G>A	ENST00000308595.5	+	21	2207	c.1917G>A	c.(1915-1917)gaG>gaA	p.E639E	ADRBK1_ENST00000526285.1_Intron	NM_001619.3	NP_001610.2	P25098	ARBK1_HUMAN	adrenergic, beta, receptor kinase 1	639	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				activation of phospholipase C activity (GO:0007202)|cardiac muscle contraction (GO:0060048)|desensitization of G-protein coupled receptor protein signaling pathway (GO:0002029)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|heart development (GO:0007507)|innate immune response (GO:0045087)|negative regulation of striated muscle contraction (GO:0045988)|negative regulation of the force of heart contraction by chemical signal (GO:0003108)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of catecholamine secretion (GO:0033605)|receptor internalization (GO:0031623)|signal transduction (GO:0007165)|tachykinin receptor signaling pathway (GO:0007217)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	alpha-2A adrenergic receptor binding (GO:0031694)|ATP binding (GO:0005524)|beta-adrenergic receptor kinase activity (GO:0047696)|Edg-2 lysophosphatidic acid receptor binding (GO:0031755)|G-protein coupled receptor kinase activity (GO:0004703)|protein kinase activity (GO:0004672)	p.E639E(2)		cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|liver(2)|lung(8)|prostate(2)	22			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)		Adenosine triphosphate(DB00171)	GCGACCCTGAGCTGGTGCAGT	0.697																																						ENST00000308595.5																			2	Substitution - coding silent(2)	p.E639E(2)	prostate(2)	cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|liver(2)|lung(8)|prostate(2)	22						c.(1915-1917)gaG>gaA		adrenergic, beta, receptor kinase 1	Adenosine triphosphate(DB00171)						40	37	38					11																	67052768		2200	4293	6493	SO:0001819	synonymous_variant	156				activation of phospholipase C activity|cardiac muscle contraction|desensitization of G-protein coupled receptor protein signaling pathway|muscarinic acetylcholine receptor signaling pathway|negative regulation of striated muscle contraction|negative regulation of the force of heart contraction by chemical signal|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|positive regulation of catecholamine secretion|tachykinin receptor signaling pathway	cytosol|soluble fraction	alpha-2A adrenergic receptor binding|ATP binding|beta-adrenergic receptor kinase activity|Edg-2 lysophosphatidic acid receptor binding|G-protein coupled receptor kinase activity|signal transducer activity	g.chr11:67052768G>A	X61157	CCDS8156.1	11q13	2013-01-10			ENSG00000173020	ENSG00000173020		"Pleckstrin homology (PH) domain containing"	289	protein-coding gene	gene with protein product		109635				2037065	Standard	NM_001619		Approved	GRK2, BARK1	uc009yrn.1	P25098	OTTHUMG00000167104	ENST00000308595.5:c.1917G>A	11.37:g.67052768G>A						ADRBK1_ENST00000526285.1_Intron	p.E639E	NM_001619.3	NP_001610.2	P25098	ARBK1_HUMAN	BRCA - Breast invasive adenocarcinoma(15;2.26e-06)		21	2207	+			639			PH.		B0ZBE1|Q13837|Q6GTT3	Silent	SNP	ENST00000308595.5	37	c.1917G>A	CCDS8156.1																																																																																				0.697	ADRBK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393153.1	NM_001619		21	31	0	0	0	0.010504	0	21	31					A	67052768	G	A	67052768	2	1	149	1	0	0	0	0	0	0	0	1	343	962	34	3		3	ADRBK1	11	67052768	Silent	SNP	G	TCGA-G9-6332-01A-11D-1786-08	595482	67052768	67953748	23	7345											
OR10G8	219869	broad.mit.edu	37	chr11	123900753	123900753	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgactgggcgctcgtgtactCttctggccaccagcacttgg	5	11	12	13	2	2	1	0	1	2	0	3	1	2	1	2	3	2	3	2	3	1	3			TCGA-G9-6332-01A-11D-1786-08	TCGA-G9-6332-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50f0a6a4-1453-4dc2-b963-53a6075ce4cd	23c4ade3-dc70-4bd0-95f0-c7be9eec4d99	g.chr11:123900753C>T	ENST00000431524.1	+	1	457	c.424C>T	c.(424-426)Ctt>Ttt	p.L142F		NM_001004464.1	NP_001004464.1	Q8NGN5	O10G8_HUMAN	olfactory receptor, family 10, subfamily G, member 8	142						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L142F(1)		breast(1)|endometrium(7)|large_intestine(2)|lung(21)|ovary(1)|prostate(5)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	44		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		CTCGTGTACTCTTCTGGCCAC	0.557																																						ENST00000431524.1																			1	Substitution - Missense(1)	p.L142F(1)	prostate(1)	breast(1)|endometrium(7)|large_intestine(2)|lung(21)|ovary(1)|prostate(5)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	44						c.(424-426)Ctt>Ttt		olfactory receptor, family 10, subfamily G, member 8							162	148	153					11																	123900753		2201	4299	6500	SO:0001583	missense	219869				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:123900753C>T	AB065755	CCDS31704.1	11q24.1	2012-08-09			ENSG00000234560	ENSG00000234560		"GPCR / Class A : Olfactory receptors"	14845	protein-coding gene	gene with protein product							Standard	NM_001004464		Approved		uc001pzp.1	Q8NGN5	OTTHUMG00000165968	ENST00000431524.1:c.424C>T	11.37:g.123900753C>T	ENSP00000389072:p.Leu142Phe						p.L142F	NM_001004464.1	NP_001004464.1	Q8NGN5	O10G8_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)	1	457	+		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	142					B2RNJ3|Q6IEV2	Missense_Mutation	SNP	ENST00000431524.1	37	c.424C>T	CCDS31704.1	.	.	.	.	.	.	.	.	.	.	C	0.940	-0.710004	0.03230	.	.	ENSG00000234560	ENST00000431524	T	0.00188	8.59	3.04	2.11	0.27256	GPCR, rhodopsin-like superfamily (1);	0.846972	0.09830	N	0.750276	T	0.00178	0.0005	L	0.50993	1.605	0.09310	N	1	B	0.15141	0.012	B	0.24269	0.052	T	0.18023	-1.0350	10	0.27785	T	0.31	.	6.2922	0.21067	0.0:0.7524:0.0:0.2476	.	142	Q8NGN5	O10G8_HUMAN	F	142	ENSP00000389072:L142F	ENSP00000389072:L142F	L	+	1	0	OR10G8	123405963	0.000000	0.05858	0.401000	0.26359	0.006000	0.05464	-3.214000	0.00555	0.589000	0.29677	0.650000	0.86243	CTT		0.557	OR10G8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387270.1	NM_001004464		6	152	0	0	0	0.001168	0	6	152					T	123900753	C	T	123900753	3	4	149	1	0	0	0	0	1	0	0	0	10903	913	32	3	426	3	OR10G8	11	123900753	Missense_Mutation	SNP	C	TCGA-G9-6332-01A-11D-1786-08	56847985	123900753	11105763	24	7346											
RASAL1	8437	broad.mit.edu	37	chr12	113544983	113544983	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cagcaggaaggggtgcagggGggccatccacagttccttgc	8	6	16	11	0	0	0	0	0	0	0	2	1	2	1	3	6	3	3	3	6	1	2			TCGA-G9-6332-01A-11D-1786-08	TCGA-G9-6332-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50f0a6a4-1453-4dc2-b963-53a6075ce4cd	23c4ade3-dc70-4bd0-95f0-c7be9eec4d99	g.chr12:113544983G>T	ENST00000261729.5	-	16	1891	c.1576C>A	c.(1576-1578)Ccc>Acc	p.P526T	RASAL1_ENST00000548055.1_Missense_Mutation_p.P526T|RASAL1_ENST00000446861.3_Missense_Mutation_p.P526T|RASAL1_ENST00000418411.2_5'UTR|RASAL1_ENST00000546530.1_Missense_Mutation_p.P527T			O95294	RASL1_HUMAN	RAS protein activator like 1 (GAP1 like)	526					intracellular signal transduction (GO:0035556)|negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	metal ion binding (GO:0046872)|phospholipid binding (GO:0005543)|Ras GTPase activator activity (GO:0005099)	p.P526T(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(3)|prostate(2)|skin(2)	43						GGGTGCAGGGGGGCCATCCAC	0.622																																						ENST00000546530.1																			2	Substitution - Missense(2)	p.P526T(2)	prostate(2)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(3)|prostate(2)|skin(2)	43						c.(1579-1581)Ccc>Acc		RAS protein activator like 1 (GAP1 like)							73	65	68					12																	113544983		2203	4300	6503	SO:0001583	missense	8437				intracellular signal transduction|negative regulation of Ras protein signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	metal ion binding|phospholipid binding|Ras GTPase activator activity	g.chr12:113544983G>T	AF086713	CCDS9165.1, CCDS55888.1, CCDS55889.1, CCDS73529.1	12q23-q24	2013-01-10			ENSG00000111344	ENSG00000111344		"Pleckstrin homology (PH) domain containing"	9873	protein-coding gene	gene with protein product		604118				9751798	Standard	NM_001193520		Approved	RASAL	uc001tul.3	O95294	OTTHUMG00000169705	ENST00000261729.5:c.1576C>A	12.37:g.113544983G>T	ENSP00000261729:p.Pro526Thr					RASAL1_ENST00000446861.3_Missense_Mutation_p.P526T|RASAL1_ENST00000261729.5_Missense_Mutation_p.P526T|RASAL1_ENST00000418411.2_5'UTR|RASAL1_ENST00000548055.1_Missense_Mutation_p.P526T	p.P527T	NM_001193520.1|NM_004658.2	NP_001180449.1|NP_004649.2	O95294	RASL1_HUMAN			16	1864	-			526					B7ZKM4|C9JFK5|F8VQX1|Q52M03|Q59H24|Q96CC7	Missense_Mutation	SNP	ENST00000261729.5	37	c.1579C>A	CCDS9165.1	.	.	.	.	.	.	.	.	.	.	G	18.76	3.693709	0.68386	.	.	ENSG00000111344	ENST00000546530;ENST00000261729;ENST00000446861;ENST00000548055	T;T;T;T	0.20463	2.07;2.07;2.07;2.07	4.94	4.94	0.65067	Rho GTPase activation protein (1);Ras GTPase-activating protein (2);	0.000000	0.85682	D	0.000000	T	0.44973	0.1319	M	0.79475	2.455	0.58432	D	0.999997	P;D;D;P;P;D	0.57571	0.942;0.98;0.967;0.772;0.662;0.98	P;P;P;P;B;P	0.59595	0.662;0.86;0.728;0.628;0.424;0.86	T	0.46105	-0.9215	10	0.52906	T	0.07	.	16.9465	0.86231	0.0:0.0:1.0:0.0	.	526;526;539;527;526;526	B4DG06;F8VRH9;Q59H24;F8VQX1;O95294;O95294-2	.;.;.;.;RASL1_HUMAN;.	T	527;526;526;526	ENSP00000450244:P527T;ENSP00000261729:P526T;ENSP00000395920:P526T;ENSP00000448510:P526T	ENSP00000261729:P526T	P	-	1	0	RASAL1	112029366	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.333000	0.96459	2.287000	0.76781	0.561000	0.74099	CCC		0.622	RASAL1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000405522.2	NM_004658		18	30	1	0	2.48551e-13	0.00499	3.17299e-13	18	30					T	113544983	G	T	113544983	3	4	149	1	0	0	0	0	1	0	0	0	13063	1232	43	5	866	5	RASAL1	12	113544983	Missense_Mutation	SNP	G	TCGA-G9-6332-01A-11D-1786-08		113544983	20306912	25	7347											
HCN4	10021	broad.mit.edu	37	chr15	73615456	73615456	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccgtgggggtgtctctggcGtgctcagtgggccagtggcc	2	9	19	11	2	2	0	1	0	1	0	3	0	2	0	3	5	1	1	3	5	0	0	rs199798661		TCGA-G9-6332-01A-11D-1786-08	TCGA-G9-6332-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50f0a6a4-1453-4dc2-b963-53a6075ce4cd	23c4ade3-dc70-4bd0-95f0-c7be9eec4d99	g.chr15:73615456G>T	ENST00000261917.3	-	8	3971	c.2978C>A	c.(2977-2979)aCg>aAg	p.T993K		NM_005477.2	NP_005468.1	Q9Y3Q4	HCN4_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 4	993	Pro-rich.				blood circulation (GO:0008015)|cation transport (GO:0006812)|cellular response to cAMP (GO:0071320)|cellular response to cGMP (GO:0071321)|in utero embryonic development (GO:0001701)|muscle contraction (GO:0006936)|potassium ion transmembrane transport (GO:0071805)|regulation of heart rate (GO:0002027)|regulation of membrane potential (GO:0042391)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|plasma membrane (GO:0005886)|terminal bouton (GO:0043195)	cAMP binding (GO:0030552)|cation channel activity (GO:0005261)|identical protein binding (GO:0042802)|intracellular cAMP activated cation channel activity (GO:0005222)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated sodium channel activity (GO:0005248)	p.T993K(1)		NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(13)|liver(1)|lung(18)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				COAD - Colon adenocarcinoma(1;0.142)		TGTCTCTGGCGTGCTCAGTGG	0.697																																						ENST00000261917.3																			1	Substitution - Missense(1)	p.T993K(1)	prostate(1)	NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(13)|liver(1)|lung(18)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	55						c.(2977-2979)aCg>aAg		hyperpolarization activated cyclic nucleotide-gated potassium channel 4							6	8	7					15																	73615456		1960	4040	6000	SO:0001583	missense	10021				blood circulation|muscle contraction	integral to membrane	cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity	g.chr15:73615456G>T	AJ132429	CCDS10248.1	15q24.1	2011-07-05			ENSG00000138622	ENSG00000138622		"Voltage-gated ion channels / Cyclic nucleotide-regulated channels"	16882	protein-coding gene	gene with protein product		605206				10228147, 10430953, 16382102	Standard	NM_005477		Approved		uc002avp.3	Q9Y3Q4	OTTHUMG00000137563	ENST00000261917.3:c.2978C>A	15.37:g.73615456G>T	ENSP00000261917:p.Thr993Lys						p.T993K	NM_005477.2	NP_005468.1	Q9Y3Q4	HCN4_HUMAN		COAD - Colon adenocarcinoma(1;0.142)	8	3971	-			993			Pro-rich.		Q9UMQ7	Missense_Mutation	SNP	ENST00000261917.3	37	c.2978C>A	CCDS10248.1	.	.	.	.	.	.	.	.	.	.	G	1.620	-0.521866	0.04171	.	.	ENSG00000138622	ENST00000261917	D	0.97404	-4.37	2.76	2.76	0.32466	.	.	.	.	.	D	0.93035	0.7783	L	0.29908	0.895	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	D	0.84374	0.0545	9	0.22109	T	0.4	.	11.7502	0.51843	0.0:0.0:1.0:0.0	.	993	Q9Y3Q4	HCN4_HUMAN	K	993	ENSP00000261917:T993K	ENSP00000261917:T993K	T	-	2	0	HCN4	71402509	0.012000	0.17670	0.722000	0.30670	0.070000	0.16714	1.550000	0.36223	1.369000	0.46134	0.448000	0.29417	ACG		0.697	HCN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268900.2	NM_005477		7	13	1	0	0.000157383	0.00308	0.000192714	7	13					T	73615456	G	T	73615456	3	4	149	1	0	0	0	0	1	0	0	0	6999	1145	40	5	637	5	HCN4	15	73615456	Missense_Mutation	SNP	G	TCGA-G9-6332-01A-11D-1786-08		73615456	28915936	26	7348											
AGBL1	123624	broad.mit.edu	37	chr15	86838596	86838596	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgtcccttggtgaccatcacGgccatgcctgagtccaacag	8	9	10	14	1	1	2	1	2	0	0	3	2	3	2	5	2	2	0	5	2	1	1			TCGA-G9-6332-01A-11D-1786-08	TCGA-G9-6332-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50f0a6a4-1453-4dc2-b963-53a6075ce4cd	23c4ade3-dc70-4bd0-95f0-c7be9eec4d99	g.chr15:86838596G>A	ENST00000441037.2	+	16	2288	c.2193G>A	c.(2191-2193)acG>acA	p.T731T	AGBL1-AS1_ENST00000564487.1_RNA|AGBL1_ENST00000389298.3_Silent_p.T462T|AGBL1-AS1_ENST00000566878.1_RNA|AGBL1_ENST00000421325.2_Silent_p.T731T	NM_152336.2	NP_689549.2	Q96MI9	CBPC4_HUMAN	ATP/GTP binding protein-like 1	731					C-terminal protein deglutamylation (GO:0035609)|protein side chain deglutamylation (GO:0035610)	cytoplasm (GO:0005737)	metallocarboxypeptidase activity (GO:0004181)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)	p.T731T(1)		NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	62						TGACCATCACGGCCATGCCTG	0.498																																						ENST00000441037.2																			1	Substitution - coding silent(1)	p.T731T(1)	prostate(1)	NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	62						c.(2191-2193)acG>acA		ATP/GTP binding protein-like 1							110	110	110					15																	86838596		1998	4176	6174	SO:0001819	synonymous_variant	123624				C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis	cytosol	metallocarboxypeptidase activity|tubulin binding|zinc ion binding	g.chr15:86838596G>A	AK056872	CCDS58398.1	15q25.3	2014-06-23			ENSG00000166748	ENSG00000166748			26504	protein-coding gene	gene with protein product	"cytosolic carboxypeptidase 4"	615496				21074048, 24094747	Standard	NM_152336		Approved	FLJ32310, CCP4	uc002blz.1	Q96MI9	OTTHUMG00000149978	ENST00000441037.2:c.2193G>A	15.37:g.86838596G>A						AGBL1_ENST00000421325.2_Silent_p.T731T|AGBL1_ENST00000389298.3_Silent_p.T462T	p.T731T	NM_152336.2	NP_689549.2	Q96MI9	CBPC4_HUMAN			16	2288	+			731					A1A4X5|A6NJH6|C9JHL5	Silent	SNP	ENST00000441037.2	37	c.2193G>A	CCDS58398.1																																																																																				0.498	AGBL1-001	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000314929.5	NM_152336		37	68	0	0	0	0.007835	0	37	68					A	86838596	G	A	86838596	2	1	149	1	0	0	0	0	0	0	0	1	375	1103	39	2		2	AGBL1	15	86838596	Silent	SNP	G	TCGA-G9-6332-01A-11D-1786-08	13223140	86838596	15692796	27	7349											
CDH5	1003	broad.mit.edu	37	chr16	66436911	66436911	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acgacacgctgcacatctacGgctacgagggctccgagtcc	9	6	11	15	5	1	0	0	0	1	0	3	3	3	0	2	2	3	4	2	2	2	2			TCGA-G9-6332-01A-11D-1786-08	TCGA-G9-6332-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50f0a6a4-1453-4dc2-b963-53a6075ce4cd	23c4ade3-dc70-4bd0-95f0-c7be9eec4d99	g.chr16:66436911G>A	ENST00000341529.3	+	12	2342	c.2194G>A	c.(2194-2196)Ggc>Agc	p.G732S	CDH5_ENST00000539168.1_Missense_Mutation_p.G171S	NM_001795.3	NP_001786.2	P33151	CADH5_HUMAN	cadherin 5, type 2 (vascular endothelium)	732					adherens junction organization (GO:0034332)|blood vessel maturation (GO:0001955)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|negative regulation of cell proliferation (GO:0008285)|regulation of establishment of cell polarity (GO:2000114)	cell junction (GO:0030054)|cell-cell junction (GO:0005911)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)|ion channel binding (GO:0044325)|receptor binding (GO:0005102)	p.G732S(1)		central_nervous_system(1)|endometrium(3)|kidney(18)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	54		Ovarian(137;0.0955)		OV - Ovarian serous cystadenocarcinoma(108;0.107)	Lenalidomide(DB00480)	GCACATCTACGGCTACGAGGG	0.642																																						ENST00000341529.3																			1	Substitution - Missense(1)	p.G732S(1)	prostate(1)	central_nervous_system(1)|endometrium(3)|kidney(18)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	54						c.(2194-2196)Ggc>Agc		cadherin 5, type 2 (vascular endothelium)							54	45	48					16																	66436911		2201	4300	6501	SO:0001583	missense	1003				adherens junction organization|cell junction assembly|homophilic cell adhesion|regulation of establishment of cell polarity	integral to membrane|membrane fraction	beta-catenin binding|calcium ion binding|ion channel binding|receptor binding	g.chr16:66436911G>A	X79981	CCDS10804.1	16q22.1	2010-01-26	2008-07-25		ENSG00000179776	ENSG00000179776		"CD molecules", "Cadherins / Major cadherins"	1764	protein-coding gene	gene with protein product	"VE-cadherin"	601120	"cadherin 5, type 2, VE-cadherin (vascular epithelium)"			2059658	Standard	NM_001795		Approved	7B4, CD144	uc002eom.4	P33151	OTTHUMG00000137495	ENST00000341529.3:c.2194G>A	16.37:g.66436911G>A	ENSP00000344115:p.Gly732Ser					CDH5_ENST00000539168.1_Missense_Mutation_p.G171S	p.G732S	NM_001795.3	NP_001786.2	P33151	CADH5_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.107)	12	2342	+		Ovarian(137;0.0955)	732					Q4VAI5|Q4VAI6	Missense_Mutation	SNP	ENST00000341529.3	37	c.2194G>A	CCDS10804.1	.	.	.	.	.	.	.	.	.	.	G	36	5.805268	0.96967	.	.	ENSG00000179776	ENST00000341529;ENST00000379531;ENST00000539262;ENST00000539168	T;T	0.76839	-1.05;-1.05	5.46	5.46	0.80206	Cadherin, cytoplasmic domain (1);	.	.	.	.	D	0.86264	0.5891	L	0.59912	1.85	0.80722	D	1	D	0.89917	1.0	D	0.72075	0.976	D	0.86566	0.1844	9	0.56958	D	0.05	.	18.288	0.90120	0.0:0.0:1.0:0.0	.	732	P33151	CADH5_HUMAN	S	732;617;473;171	ENSP00000344115:G732S;ENSP00000461880:G171S	ENSP00000344115:G732S	G	+	1	0	CDH5	64994412	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.799000	0.99117	2.550000	0.86006	0.563000	0.77884	GGC		0.642	CDH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268767.1	NM_001795		11	19	0	0	0	0.010729	0	11	19					A	66436911	G	A	66436911	3	1	149	1	0	0	0	0	1	0	0	0	3113	1116	39	2	2236	2	CDH5	16	66436911	Missense_Mutation	SNP	G	TCGA-G9-6332-01A-11D-1786-08		66436911	23917842	28	7350											
ARHGEF15	22899	broad.mit.edu	37	chr17	8221715	8221715	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgtccccagaatatcctgcGccagacagaagaggggtcca	11	7	11	12	1	0	4	0	0	0	4	3	4	3	4	5	2	1	0	5	2	3	2			TCGA-G9-6332-01A-11D-1786-08	TCGA-G9-6332-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50f0a6a4-1453-4dc2-b963-53a6075ce4cd	23c4ade3-dc70-4bd0-95f0-c7be9eec4d99	g.chr17:8221715G>A	ENST00000361926.3	+	10	1825	c.1715G>A	c.(1714-1716)cGc>cAc	p.R572H	ARHGEF15_ENST00000421050.1_Missense_Mutation_p.R572H|AC135178.7_ENST00000458568.1_RNA	NM_173728.3	NP_776089.2	O94989	ARHGF_HUMAN	Rho guanine nucleotide exchange factor (GEF) 15	572	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				negative regulation of synapse maturation (GO:2000297)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of stress fiber assembly (GO:0051496)|regulation of catalytic activity (GO:0050790)|retina vasculature morphogenesis in camera-type eye (GO:0061299)	cytoplasm (GO:0005737)|dendrite (GO:0030425)	GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.R572H(1)		breast(1)|endometrium(9)|large_intestine(5)|lung(11)|ovary(5)|prostate(3)|skin(2)|urinary_tract(1)	37						AATATCCTGCGCCAGACAGAA	0.627																																						ENST00000361926.3																			1	Substitution - Missense(1)	p.R572H(1)	prostate(1)	breast(1)|endometrium(9)|large_intestine(5)|lung(11)|ovary(5)|prostate(3)|skin(2)|urinary_tract(1)	37						c.(1714-1716)cGc>cAc		Rho guanine nucleotide exchange factor (GEF) 15							77	84	82					17																	8221715		2203	4300	6503	SO:0001583	missense	22899				negative regulation of synapse maturation|regulation of Rho protein signal transduction	dendrite|intracellular	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	g.chr17:8221715G>A	AB020722	CCDS11139.1	17p13.1	2011-11-16			ENSG00000198844	ENSG00000198844		"Rho guanine nucleotide exchange factors"	15590	protein-coding gene	gene with protein product	"Rho guanine exchange factor (GEF) 15"	608504				10048485	Standard	NM_173728		Approved	KIAA0915, Vsm-RhoGEF, ARGEF15, FLJ13791, MGC44868	uc002glc.3	O94989	OTTHUMG00000108187	ENST00000361926.3:c.1715G>A	17.37:g.8221715G>A	ENSP00000355026:p.Arg572His					ARHGEF15_ENST00000421050.1_Missense_Mutation_p.R572H|AC135178.7_ENST00000458568.1_RNA	p.R572H	NM_173728.3	NP_776089.2	O94989	ARHGF_HUMAN			10	1825	+			572			DH.		A8K6G1|Q8N449|Q9H8B4	Missense_Mutation	SNP	ENST00000361926.3	37	c.1715G>A	CCDS11139.1	.	.	.	.	.	.	.	.	.	.	g	9.504	1.103943	0.20632	.	.	ENSG00000198844	ENST00000361926;ENST00000455564;ENST00000421050	T;T	0.30981	1.51;1.51	5.29	-0.146	0.13432	Dbl homology (DH) domain (5);	0.903044	0.09761	N	0.759275	T	0.14527	0.0351	N	0.05124	-0.11	0.09310	N	1	B;B	0.22346	0.068;0.068	B;B	0.12837	0.008;0.008	T	0.24297	-1.0164	10	0.72032	D	0.01	-0.0636	7.7365	0.28817	0.501:0.0:0.499:0.0	.	572;572	D3DTR7;O94989	.;ARHGF_HUMAN	H	572;362;572	ENSP00000355026:R572H;ENSP00000412505:R572H	ENSP00000355026:R572H	R	+	2	0	ARHGEF15	8162440	0.838000	0.29461	0.319000	0.25293	0.739000	0.42172	0.317000	0.19487	-0.143000	0.11334	-0.300000	0.09419	CGC		0.627	ARHGEF15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226993.2	NM_173728		47	84	0	0	0	0.01441	0	47	84					A	8221715	G	A	8221715	3	1	149	1	0	0	0	0	1	0	0	0	898	1087	38	1	1749	1	ARHGEF15	17	8221715	Missense_Mutation	SNP	G	TCGA-G9-6332-01A-11D-1786-08		8221715	72973495	29	7351											
PRKCSH	5589	broad.mit.edu	37	chr19	11552168	11552168	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gaagaaggcacgggaggagaAgcaggtaaggaacccgcggg	14	1	19	7	3	0	2	0	0	0	2	0	6	0	4	1	6	2	3	1	6	5	1			TCGA-G9-6332-01A-11D-1786-08	TCGA-G9-6332-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50f0a6a4-1453-4dc2-b963-53a6075ce4cd	23c4ade3-dc70-4bd0-95f0-c7be9eec4d99	g.chr19:11552168A>G	ENST00000589838.1	+	5	464	c.464A>G	c.(463-465)aAg>aGg	p.K155R	PRKCSH_ENST00000412601.1_Missense_Mutation_p.K155R|snoU13_ENST00000459022.1_RNA|PRKCSH_ENST00000252455.2_Missense_Mutation_p.K155R|PRKCSH_ENST00000587327.1_Missense_Mutation_p.K155R|PRKCSH_ENST00000592741.1_Missense_Mutation_p.K155R|PRKCSH_ENST00000591462.1_Missense_Mutation_p.K155R			P14314	GLU2B_HUMAN	protein kinase C substrate 80K-H	155					cellular protein metabolic process (GO:0044267)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|liver development (GO:0001889)|N-glycan processing (GO:0006491)|negative regulation of neuron projection development (GO:0010977)|nitrogen compound metabolic process (GO:0006807)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein heterooligomerization (GO:0051291)|protein N-linked glycosylation via asparagine (GO:0018279)|renal system development (GO:0072001)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|intracellular (GO:0005622)	calcium ion binding (GO:0005509)|ion channel binding (GO:0044325)|phosphoprotein binding (GO:0051219)|protein kinase C binding (GO:0005080)|RNA binding (GO:0003723)	p.K155R(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|prostate(3)	19						CGGGAGGAGAAGCAGGTAAGG	0.612																																						ENST00000252455.2																			1	Substitution - Missense(1)	p.K155R(1)	prostate(1)	breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|prostate(3)	19	GRCh37	CM063069	PRKCSH	M		c.(463-465)aAg>aGg		protein kinase C substrate 80K-H							82	89	87					19																	11552168		2203	4300	6503	SO:0001583	missense	5589				innate immune response|intracellular protein kinase cascade|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen	calcium ion binding|protein kinase C binding	g.chr19:11552168A>G		CCDS32911.1, CCDS45977.1, CCDS74286.1	19p13.2	2014-01-30			ENSG00000130175	ENSG00000130175	2.7.11.1	"EF-hand domain containing"	9411	protein-coding gene	gene with protein product		177060	"polycystic liver disease"	G19P1, PCLD, PLD1		12529853	Standard	NM_002743		Approved		uc002mrt.3	P14314	OTTHUMG00000182029	ENST00000589838.1:c.464A>G	19.37:g.11552168A>G	ENSP00000465461:p.Lys155Arg					PRKCSH_ENST00000591462.1_Missense_Mutation_p.K155R|PRKCSH_ENST00000412601.1_Missense_Mutation_p.K155R|PRKCSH_ENST00000589838.1_Missense_Mutation_p.K155R|PRKCSH_ENST00000587327.1_Missense_Mutation_p.K155R|PRKCSH_ENST00000592741.1_Missense_Mutation_p.K155R	p.K155R	NM_002743.2	NP_002734.2	P14314	GLU2B_HUMAN			6	800	+			155					A8K318|Q96BU9|Q96D06|Q9P0W9	Missense_Mutation	SNP	ENST00000589838.1	37	c.464A>G	CCDS32911.1	.	.	.	.	.	.	.	.	.	.	A	10.28	1.307210	0.23821	.	.	ENSG00000130175	ENST00000252455;ENST00000412601	T;T	0.71698	-0.59;-0.59	5.13	5.13	0.70059	.	0.051201	0.85682	D	0.000000	T	0.56906	0.2017	N	0.17764	0.52	0.58432	D	0.999998	P;B;B	0.35401	0.499;0.005;0.081	B;B;B	0.39503	0.301;0.014;0.14	T	0.54125	-0.8340	10	0.15066	T	0.55	-59.3671	12.9039	0.58141	1.0:0.0:0.0:0.0	.	155;155;155	E7EQZ9;A8K318;P14314	.;.;GLU2B_HUMAN	R	155	ENSP00000252455:K155R;ENSP00000395616:K155R	ENSP00000252455:K155R	K	+	2	0	PRKCSH	11413168	1.000000	0.71417	1.000000	0.80357	0.266000	0.26442	7.327000	0.79147	1.947000	0.56498	0.459000	0.35465	AAG		0.612	PRKCSH-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000458817.1			52	113	0	0	0	0.01441	0	52	113					G	11552168	A	G	11552168	3	3	149	1	0	0	0	0	1	0	0	0	12516	72	3	4	482	4	PRKCSH	19	11552168	Missense_Mutation	SNP	A	TCGA-G9-6332-01A-11D-1786-08		11552168	47576815	30	7352											
CABP5	56344	broad.mit.edu	37	chr19	48533840	48533840	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agacatcatcttcacaaactCtgcaaagaaaaaaaaaaatc	22	7	3	9	0	4	2	2	0	2	2	5	2	4	2	0	0	2	1	0	0	7	1			TCGA-G9-6332-01A-11D-1786-08	TCGA-G9-6332-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50f0a6a4-1453-4dc2-b963-53a6075ce4cd	23c4ade3-dc70-4bd0-95f0-c7be9eec4d99	g.chr19:48533840C>T	ENST00000293255.2	-	6	627		c.e6-1			NM_019855.4	NP_062829.1	Q9NP86	CABP5_HUMAN	calcium binding protein 5						signal transduction (GO:0007165)	cytosol (GO:0005829)	calcium ion binding (GO:0005509)	p.?(1)		endometrium(1)|large_intestine(3)|lung(3)|prostate(2)|skin(2)	11		all_cancers(25;1.86e-08)|all_lung(116;1.14e-06)|all_epithelial(76;1.16e-06)|Lung NSC(112;2.54e-06)|all_neural(266;0.0138)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;4.09e-05)|all cancers(93;0.000322)|Epithelial(262;0.01)|GBM - Glioblastoma multiforme(486;0.058)		TTCACAAACTCTGCAAAGAAA	0.493																																						ENST00000293255.2																			1	Unknown(1)	p.?(1)	prostate(1)	endometrium(1)|large_intestine(3)|lung(3)|prostate(2)|skin(2)	11						c.e6-1		calcium binding protein 5							81	82	82					19																	48533840		2203	4300	6503	SO:0001630	splice_region_variant	56344				signal transduction	cytoplasm	calcium ion binding	g.chr19:48533840C>T	AF169159	CCDS12709.1	19q13.33	2014-08-12			ENSG00000105507	ENSG00000105507		"EF-hand domain containing"	13714	protein-coding gene	gene with protein product		607315	"calcium binding protein 3"	CABP3		10625670	Standard	NM_019855		Approved	CaBP3	uc002phu.2	Q9NP86	OTTHUMG00000183139	ENST00000293255.2:c.497-1G>A	19.37:g.48533840C>T								NM_019855.4	NP_062829.1	Q9NP86	CABP5_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;4.09e-05)|all cancers(93;0.000322)|Epithelial(262;0.01)|GBM - Glioblastoma multiforme(486;0.058)	6	627	-		all_cancers(25;1.86e-08)|all_lung(116;1.14e-06)|all_epithelial(76;1.16e-06)|Lung NSC(112;2.54e-06)|all_neural(266;0.0138)|Ovarian(192;0.0261)|Breast(70;0.203)						A0AUY4	Splice_Site	SNP	ENST00000293255.2	37		CCDS12709.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.294491	0.81025	.	.	ENSG00000105507	ENST00000293255	.	.	.	5.31	5.31	0.75309	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.92	0.86161	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CABP5	53225652	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	6.478000	0.73596	2.676000	0.91093	0.650000	0.86243	.		0.493	CABP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465212.1	NM_019855	Intron	31	62	0	0	0	0.003755	0	31	62					T	48533840	C	T	48533840	5	4	149	1	0	0	0	0	0	0	1	0	2534	927	32	3	29	3	CABP5	19	48533840	Splice_Site	SNP	C	TCGA-G9-6332-01A-11D-1786-08	36981672	48533840	10595143	31	7353											
SNAP25	6616	broad.mit.edu	37	chr20	10273562	10273562	+	Intron	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgtcgaagaaggcatgaacCatatcaaccaagacatgaag	17	6	10	8	1	1	4	1	2	0	2	2	5	1	4	2	1	2	1	2	1	7	1			TCGA-G9-6332-01A-11D-1786-08	TCGA-G9-6332-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50f0a6a4-1453-4dc2-b963-53a6075ce4cd	23c4ade3-dc70-4bd0-95f0-c7be9eec4d99	g.chr20:10273562C>G	ENST00000254976.2	+	5	374				SNAP25_ENST00000304886.2_Missense_Mutation_p.H66D|SNAP25-AS1_ENST00000421143.2_RNA|SNAP25-AS1_ENST00000453544.1_RNA	NM_130811.2	NP_570824.1	P60880	SNP25_HUMAN	synaptosomal-associated protein, 25kDa						energy reserve metabolic process (GO:0006112)|glutamate secretion (GO:0014047)|long-term synaptic potentiation (GO:0060291)|neurotransmitter secretion (GO:0007269)|neurotransmitter uptake (GO:0001504)|regulation of establishment of protein localization (GO:0070201)|regulation of insulin secretion (GO:0050796)|regulation of neuron projection development (GO:0010975)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|synaptic vesicle docking involved in exocytosis (GO:0016081)|synaptic vesicle exocytosis (GO:0016079)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|growth cone (GO:0030426)|membrane (GO:0016020)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)|SNARE complex (GO:0031201)|synaptobrevin 2-SNAP-25-syntaxin-1a-complexin I complex (GO:0070032)|trans-Golgi network (GO:0005802)	calcium-dependent protein binding (GO:0048306)	p.H66D(1)		endometrium(1)|large_intestine(2)|lung(8)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	18					Botulinum Toxin Type A(DB00083)	AGGCATGAACCATATCAACCA	0.413																																						ENST00000304886.2																			1	Substitution - Missense(1)	p.H66D(1)	prostate(1)	endometrium(1)|large_intestine(2)|lung(8)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	18						c.(196-198)Cat>Gat		synaptosomal-associated protein, 25kDa	Botulinum Toxin Type A(DB00083)						115	110	111					20																	10273562		2203	4300	6503	SO:0001627	intron_variant	6616				energy reserve metabolic process|glutamate secretion|neurotransmitter uptake|synaptic vesicle docking involved in exocytosis	cell junction|growth cone|perinuclear region of cytoplasm|synapse|synaptosome		g.chr20:10273562C>G		CCDS13109.1, CCDS13110.1	20p12-p11.2	2008-08-01	2002-08-29		ENSG00000132639	ENSG00000132639			11132	protein-coding gene	gene with protein product	"resistance to inhibitors of cholinesterase 4 homolog"	600322	"synaptosomal-associated protein, 25kD"	SNAP		8661740, 10692432	Standard	NM_003081		Approved	SNAP-25, RIC-4, RIC4, SEC9, bA416N4.2, dJ1068F16.2	uc002wnr.2	P60880	OTTHUMG00000031863	ENST00000254976.2:c.164-247C>G	20.37:g.10273562C>G						SNAP25_ENST00000254976.2_Intron|SNAP25-AS1_ENST00000421143.2_RNA|SNAP25-AS1_ENST00000453544.1_RNA	p.H66D	NM_003081.3	NP_003072.2	P60880	SNP25_HUMAN			5	404	+			66			Interaction with CENPF (By similarity).|t-SNARE coiled-coil homology 1.		B2RAU4|D3DW16|D3DW17|P13795|P36974|P70557|P70558|Q53EM2|Q5U0B5|Q8IXK3|Q96FM2|Q9BR45	Missense_Mutation	SNP	ENST00000254976.2	37	c.196C>G	CCDS13110.1	.	.	.	.	.	.	.	.	.	.	C	14.35	2.508591	0.44660	.	.	ENSG00000132639	ENST00000304886	.	.	.	6.16	6.16	0.99307	.	.	.	.	.	T	0.49321	0.1550	.	.	.	0.49687	D	0.99981	B	0.18863	0.031	B	0.20384	0.029	T	0.46162	-0.9211	7	0.08599	T	0.76	.	20.8598	0.99761	0.0:1.0:0.0:0.0	.	66	P60880-2	.	D	66	.	ENSP00000307341:H66D	H	+	1	0	SNAP25	10221562	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.975000	0.70475	2.937000	0.99478	0.650000	0.86243	CAT		0.413	SNAP25-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000077976.3	NM_130811		12	84	0	0	0	0.013537	0	12	84					G	10273562	C	G	10273562	1	3	149	0	1	0	0	0	0	0	0	0	14830	594	21	5		5	SNAP25	20	10273562	Intron	SNP	C	TCGA-G9-6332-01A-11D-1786-08		10273562	52751958	32	7354											
ADAMTS5	11096	broad.mit.edu	37	chr21	28315754	28315754	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagtgcatttggaccagggCttagatgcatcaatgctggt	10	11	13	7	0	1	1	1	0	0	1	1	3	1	2	1	3	3	4	1	3	3	2	rs528381319	byFrequency	TCGA-G9-6332-01A-11D-1786-08	TCGA-G9-6332-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50f0a6a4-1453-4dc2-b963-53a6075ce4cd	23c4ade3-dc70-4bd0-95f0-c7be9eec4d99	g.chr21:28315754C>A	ENST00000284987.5	-	3	1471	c.1350G>T	c.(1348-1350)aaG>aaT	p.K450N		NM_007038.3	NP_008969.2	Q9UNA0	ATS5_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 5	450	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				defense response to bacterium (GO:0042742)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|proteolysis (GO:0006508)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.K450N(2)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	72						TGGACCAGGGCTTAGATGCAT	0.448																																					Esophageal Squamous(53;683 1080 10100 14424 45938)	ENST00000284987.5																			2	Substitution - Missense(2)	p.K450N(2)	prostate(2)	breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	72						c.(1348-1350)aaG>aaT		ADAM metallopeptidase with thrombospondin type 1 motif, 5							121	102	108					21																	28315754		2203	4300	6503	SO:0001583	missense	11096				proteolysis	proteinaceous extracellular matrix	integrin binding|metalloendopeptidase activity|zinc ion binding	g.chr21:28315754C>A	AF142099	CCDS13579.1	21q21.3	2008-07-31	2008-07-31		ENSG00000154736	ENSG00000154736		"ADAM metallopeptidases with thrombospondin type 1 motif"	221	protein-coding gene	gene with protein product	"aggrecanase-2"	605007	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 5 (aggrecanase-2)"			10438522	Standard	NM_007038		Approved	ADMP-2, ADAMTS11	uc002ymg.3	Q9UNA0	OTTHUMG00000078686	ENST00000284987.5:c.1350G>T	21.37:g.28315754C>A	ENSP00000284987:p.Lys450Asn						p.K450N	NM_007038.3	NP_008969.2	Q9UNA0	ATS5_HUMAN			3	1471	-			450			Peptidase M12B.		Q52LV4|Q9UKP2	Missense_Mutation	SNP	ENST00000284987.5	37	c.1350G>T	CCDS13579.1	.	.	.	.	.	.	.	.	.	.	C	11.08	1.534293	0.27475	.	.	ENSG00000154736	ENST00000284987	T	0.03524	3.9	5.4	-4.14	0.03892	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.046469	0.85682	D	0.000000	T	0.03827	0.0108	N	0.11023	0.085	0.45837	D	0.998702	D	0.63880	0.993	P	0.55667	0.781	T	0.06917	-1.0800	10	0.25106	T	0.35	.	15.1452	0.72643	0.0:0.2824:0.0:0.7176	.	450	Q9UNA0	ATS5_HUMAN	N	450	ENSP00000284987:K450N	ENSP00000284987:K450N	K	-	3	2	ADAMTS5	27237625	0.035000	0.19736	0.933000	0.37362	0.669000	0.39330	-0.794000	0.04584	-0.678000	0.05224	-0.145000	0.13849	AAG		0.448	ADAMTS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171648.1			4	34	1	0	0.00024832	0.009096	0.000292141	4	34					A	28315754	C	A	28315754	3	1	149	1	0	0	0	0	1	0	0	0	269	796	28	5	1466	5	ADAMTS5	21	28315754	Missense_Mutation	SNP	C	TCGA-G9-6332-01A-11D-1786-08		28315754	19814141	33	7355											
PHTF1	10745	broad.mit.edu	37	chr1	114254647	114254647	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aggccccttccacactcctaCgcaataatatcatctgtgtc	10	11	5	15	1	2	0	1	0	1	0	5	0	4	0	4	1	1	1	4	1	4	4			TCGA-G9-6333-01A-12D-1961-08	TCGA-G9-6333-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ec7131a-d645-47a5-baa3-10b19f243846	62d82fd8-e94f-4dae-a171-a8eab417bc41	g.chr1:114254647C>T	ENST00000369604.1	-	9	1355	c.872G>A	c.(871-873)cGt>cAt	p.R291H	PHTF1_ENST00000357783.2_Missense_Mutation_p.R291H|PHTF1_ENST00000369598.1_Missense_Mutation_p.R246H|PHTF1_ENST00000369596.2_Missense_Mutation_p.R238H|PHTF1_ENST00000369600.1_Missense_Mutation_p.R238H|PHTF1_ENST00000393357.2_Missense_Mutation_p.R291H|PHTF1_ENST00000474926.1_5'UTR|PHTF1_ENST00000447664.2_3'UTR			Q9UMS5	PHTF1_HUMAN	putative homeodomain transcription factor 1	291					transcription, DNA-templated (GO:0006351)	cis-Golgi network (GO:0005801)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27	Lung SC(450;0.184)	all_cancers(81;3.78e-08)|all_epithelial(167;5.56e-08)|all_lung(203;6.97e-06)|Lung NSC(69;1.18e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CACACTCCTACGCAATAATAT	0.413																																						ENST00000369604.1																			0				breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27						c.(871-873)cGt>cAt		putative homeodomain transcription factor 1							130	127	128					1																	114254647		2203	4300	6503	SO:0001583	missense	10745					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr1:114254647C>T	AJ011863	CCDS861.1	1p13-p11	2008-07-18			ENSG00000116793	ENSG00000116793			8939	protein-coding gene	gene with protein product		604950		PHTF		10395808	Standard	NM_006608		Approved		uc009wgp.1	Q9UMS5	OTTHUMG00000011800	ENST00000369604.1:c.872G>A	1.37:g.114254647C>T	ENSP00000358617:p.Arg291His					PHTF1_ENST00000369596.2_Missense_Mutation_p.R238H|PHTF1_ENST00000474926.1_5'UTR|PHTF1_ENST00000357783.2_Missense_Mutation_p.R291H|PHTF1_ENST00000393357.2_Missense_Mutation_p.R291H|PHTF1_ENST00000369598.1_Missense_Mutation_p.R246H|PHTF1_ENST00000447664.2_3'UTR|PHTF1_ENST00000369600.1_Missense_Mutation_p.R238H	p.R291H			Q9UMS5	PHTF1_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	9	1355	-	Lung SC(450;0.184)	all_cancers(81;3.78e-08)|all_epithelial(167;5.56e-08)|all_lung(203;6.97e-06)|Lung NSC(69;1.18e-05)	291					Q5VWP7|Q5VWP8|Q9BUP2|Q9H1X8	Missense_Mutation	SNP	ENST00000369604.1	37	c.872G>A	CCDS861.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.30|17.30	3.353537|3.353537	0.61293|0.61293	.|.	.|.	ENSG00000116793|ENSG00000116793	ENST00000369597;ENST00000393357;ENST00000369596;ENST00000369598;ENST00000369600;ENST00000369604;ENST00000357783|ENST00000412670	.|.	.|.	.|.	5.57|5.57	5.57|5.57	0.84162|0.84162	.|.	0.277859|.	0.38548|.	N|.	0.001643|.	T|T	0.40272|0.40272	0.1110|0.1110	N|N	0.24115|0.24115	0.695|0.695	0.80722|0.80722	D|D	1|1	B;D;B|.	0.63046|.	0.074;0.992;0.231|.	B;P;B|.	0.47786|.	0.008;0.557;0.018|.	T|T	0.30179|0.30179	-0.9987|-0.9987	9|5	0.72032|.	D|.	0.01|.	-14.2617|-14.2617	15.0834|15.0834	0.72133|0.72133	0.0:0.8587:0.1413:0.0|0.0:0.8587:0.1413:0.0	.|.	291;46;291|.	Q9UMS5;Q5TCR1;Q9UMS5-2|.	PHTF1_HUMAN;.;.|.	H|I	246;291;238;246;238;291;291|47	.|.	ENSP00000350428:R291H|.	R|V	-|-	2|1	0|0	PHTF1|PHTF1	114056170|114056170	0.956000|0.956000	0.32656|0.32656	0.893000|0.893000	0.35052|0.35052	0.457000|0.457000	0.32468|0.32468	2.059000|2.059000	0.41384|0.41384	2.627000|2.627000	0.88993|0.88993	0.460000|0.460000	0.39030|0.39030	CGT|GTA		0.413	PHTF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032666.1	NM_006608		22	63	0	0	0	0.016522	0	22	63					T	114254647	C	T	114254647	3	4	150	1	0	0	0	0	1	0	0	0	11862	536	19	1	1460	1	PHTF1	1	114254647	Missense_Mutation	SNP	C	TCGA-G9-6333-01A-12D-1961-08		114254647	134995974	1	7356											
RXRG	6258	broad.mit.edu	37	chr1	165370515	165370515	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggggctcaggtgatctgcagCggggtctccaacatctccat	7	9	13	12	1	4	1	1	1	3	0	6	1	4	1	2	5	3	2	2	5	1	0	rs149087358		TCGA-G9-6333-01A-12D-1961-08	TCGA-G9-6333-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ec7131a-d645-47a5-baa3-10b19f243846	62d82fd8-e94f-4dae-a171-a8eab417bc41	g.chr1:165370515C>T	ENST00000359842.5	-	10	1679	c.1377G>A	c.(1375-1377)ccG>ccA	p.P459P		NM_001256570.1|NM_006917.4	NP_001243499.1|NP_008848.1	P48443	RXRG_HUMAN	retinoid X receptor, gamma	459	Ligand-binding. {ECO:0000250}.				gene expression (GO:0010467)|heart development (GO:0007507)|neuron differentiation (GO:0030182)|peripheral nervous system development (GO:0007422)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of myelination (GO:0031641)|response to retinoic acid (GO:0032526)|skeletal muscle tissue development (GO:0007519)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)	9-cis retinoic acid receptor activity (GO:0004886)|sequence-specific DNA binding (GO:0043565)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(3)|large_intestine(6)|lung(22)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	38	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)				Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Bexarotene(DB00307)|Tretinoin(DB00755)	TGATCTGCAGCGGGGTCTCCA	0.607													C|||	1	0.000199681	8e-04	0	5008	,	,		13329	0		0	False		,,,				2504	0					ENST00000359842.5																			0				endometrium(1)|kidney(3)|large_intestine(6)|lung(22)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	38						c.(1375-1377)ccG>ccA		retinoid X receptor, gamma	Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tretinoin(DB00755)	C		3,4403	6.2+/-15.9	0,3,2200	80	79	80		1377	-8.8	0.9	1	dbSNP_134	80	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	RXRG	NM_006917.4		0,4,6499	TT,TC,CC		0.0116,0.0681,0.0308		459/464	165370515	4,13002	2203	4300	6503	SO:0001819	synonymous_variant	6258				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding	g.chr1:165370515C>T	U38480	CCDS1248.1, CCDS72970.1	1q22-q23	2013-01-16			ENSG00000143171	ENSG00000143171		"Nuclear hormone receptors"	10479	protein-coding gene	gene with protein product	"nuclear receptor subfamily 2 group B member 3"	180247				8034312	Standard	NR_033824		Approved	NR2B3	uc001gda.3	P48443	OTTHUMG00000034626	ENST00000359842.5:c.1377G>A	1.37:g.165370515C>T							p.P459P	NM_001256570.1|NM_006917.4	NP_001243499.1|NP_008848.1	P48443	RXRG_HUMAN			10	1679	-	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)		459			Ligand-binding (By similarity).		A6NIP1|Q6IBU7	Silent	SNP	ENST00000359842.5	37	c.1377G>A	CCDS1248.1																																																																																				0.607	RXRG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083794.2	NM_006917		22	94	0	0	0	0.00333	0	22	94					T	165370515	C	T	165370515	2	4	150	1	0	0	0	0	0	0	0	1	13765	755	27	1		1	RXRG	1	165370515	Silent	SNP	C	TCGA-G9-6333-01A-12D-1961-08	51115868	165370515	83880106	2	7357											
KIF21B	23046	broad.mit.edu	37	chr1	200972744	200972744	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tccatcagctccatctgcagCcgagcaatctcagcccgcag	9	7	8	17	2	3	0	2	0	2	0	6	1	5	0	4	0	5	4	4	0	1	0			TCGA-G9-6333-01A-12D-1961-08	TCGA-G9-6333-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ec7131a-d645-47a5-baa3-10b19f243846	62d82fd8-e94f-4dae-a171-a8eab417bc41	g.chr1:200972744C>T	ENST00000422435.2	-	8	1498	c.1182G>A	c.(1180-1182)cgG>cgA	p.R394R	KIF21B_ENST00000360529.5_Silent_p.R394R|KIF21B_ENST00000461742.2_Silent_p.R394R|KIF21B_ENST00000332129.2_Silent_p.R394R	NM_001252100.1	NP_001239029.1	O75037	KI21B_HUMAN	kinesin family member 21B	394					ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.R394R(1)		autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						CCATCTGCAGCCGAGCAATCT	0.562																																						ENST00000332129.2																			1	Substitution - coding silent(1)	p.R394R(1)	endometrium(1)	autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						c.(1180-1182)cgG>cgA		kinesin family member 21B							142	111	122					1																	200972744		2203	4300	6503	SO:0001819	synonymous_variant	23046				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr1:200972744C>T	BC031927	CCDS30965.1, CCDS58054.1, CCDS58055.1, CCDS58056.1	1q32.1	2013-01-10			ENSG00000116852	ENSG00000116852		"Kinesins", "WD repeat domain containing"	29442	protein-coding gene	gene with protein product		608322				9455484	Standard	NM_001252100		Approved	DKFZP434J212, KIAA0449	uc001gvs.2	O75037	OTTHUMG00000035787	ENST00000422435.2:c.1182G>A	1.37:g.200972744C>T						KIF21B_ENST00000461742.2_Silent_p.R394R|KIF21B_ENST00000422435.2_Silent_p.R394R|KIF21B_ENST00000360529.5_Silent_p.R394R	p.R394R	NM_001252102.1|NM_001252103.1|NM_017596.3	NP_001239031.1|NP_001239032.1|NP_060066.2	O75037	KI21B_HUMAN			8	1498	-			394					B2RP62|B7ZMI0|Q5T4J3	Silent	SNP	ENST00000422435.2	37	c.1182G>A	CCDS58056.1																																																																																				0.562	KIF21B-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382635.1	XM_371332		18	69	0	0	0	0.007413	0	18	69					T	200972744	C	T	200972744	2	4	150	1	0	0	0	0	0	0	0	1	8289	726	26	3		3	KIF21B	1	200972744	Silent	SNP	C	TCGA-G9-6333-01A-12D-1961-08	35602229	200972744	48277877	3	7358											
OBSCN	84033	broad.mit.edu	37	chr1	228433202	228433202	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gccatgctgagctgtgaggtGgcccagccccagacagaggt	8	6	15	12	0	0	4	0	2	0	2	0	4	0	4	4	3	3	2	4	3	0	0	rs374351944		TCGA-G9-6333-01A-12D-1961-08	TCGA-G9-6333-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ec7131a-d645-47a5-baa3-10b19f243846	62d82fd8-e94f-4dae-a171-a8eab417bc41	g.chr1:228433202G>C	ENST00000422127.1	+	12	3614	c.3570G>C	c.(3568-3570)gtG>gtC	p.V1190V	OBSCN_ENST00000284548.11_Silent_p.V1190V|OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000570156.2_Silent_p.V1282V	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	1190	Ig-like 12.				apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GCTGTGAGGTGGCCCAGCCCC	0.607																																						ENST00000570156.2																			0				NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223						c.(3844-3846)gtG>gtC		obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF							82	82	82					1																	228433202		2096	4202	6298	SO:0001819	synonymous_variant	84033				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	g.chr1:228433202G>C	AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"Rho guanine nucleotide exchange factors", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.3570G>C	1.37:g.228433202G>C						OBSCN_ENST00000422127.1_Silent_p.V1190V|OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000284548.11_Silent_p.V1190V	p.V1282V	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN			13	3920	+		Prostate(94;0.0405)	261			Ig-like 13.		Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Silent	SNP	ENST00000422127.1	37	c.3846G>C	CCDS58065.1																																																																																				0.607	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843		11	71	0	0	0	0.001855	0	11	71					C	228433202	G	C	228433202	2	2	150	1	0	0	0	0	0	0	0	1	10812	1335	47	5		5	OBSCN	1	228433202	Silent	SNP	G	TCGA-G9-6333-01A-12D-1961-08	27460458	228433202	20817419	4	7359											
RYR2	6262	broad.mit.edu	37	chr1	237711848	237711848	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatgcacataatgtgtgggcGcgggatcgaatccggcaggg	10	7	16	8	4	0	0	0	0	0	0	2	2	1	1	1	4	1	2	1	4	3	1	rs566157997		TCGA-G9-6333-01A-12D-1961-08	TCGA-G9-6333-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ec7131a-d645-47a5-baa3-10b19f243846	62d82fd8-e94f-4dae-a171-a8eab417bc41	g.chr1:237711848G>A	ENST00000366574.2	+	26	3341	c.3024G>A	c.(3022-3024)gcG>gcA	p.A1008A	RYR2_ENST00000542537.1_Silent_p.A992A|RYR2_ENST00000360064.6_Silent_p.A1006A	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1008	4 X approximate repeats.				BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			ATGTGTGGGCGCGGGATCGAA	0.473													G|||	1	0.000199681	8e-04	0	5008	,	,		19199	0		0	False		,,,				2504	0					ENST00000366574.2																			0				NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586						c.(3022-3024)gcG>gcA		ryanodine receptor 2 (cardiac)							62	59	60					1																	237711848		1930	4146	6076	SO:0001819	synonymous_variant	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237711848G>A	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"Ion channels / Ryanodine receptors", "EF-hand domain containing"	10484	protein-coding gene	gene with protein product		180902	"arrhythmogenic right ventricular dysplasia 2"	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.3024G>A	1.37:g.237711848G>A						RYR2_ENST00000542537.1_Silent_p.A992A|RYR2_ENST00000360064.6_Silent_p.A1006A	p.A1008A	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		26	3341	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	1008			4 X approximate repeats.		Q15411|Q546N8|Q5T3P2	Silent	SNP	ENST00000366574.2	37	c.3024G>A	CCDS55691.1																																																																																				0.473	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		12	41	0	0	0	0.010729	0	12	41					A	237711848	G	A	237711848	2	1	150	1	0	0	0	0	0	0	0	1	13769	1074	38	1		1	RYR2	1	237711848	Silent	SNP	G	TCGA-G9-6333-01A-12D-1961-08	9278646	237711848	11538773	5	7360											
HOXD4	3233	broad.mit.edu	37	chr2	177017450	177017450	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggtatctgacaaggcgccGtcggattgaaatcgctcaca	11	8	11	11	4	2	2	1	2	1	0	4	3	2	3	1	3	0	2	1	3	3	2			TCGA-G9-6333-01A-12D-1961-08	TCGA-G9-6333-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ec7131a-d645-47a5-baa3-10b19f243846	62d82fd8-e94f-4dae-a171-a8eab417bc41	g.chr2:177017450G>A	ENST00000306324.3	+	2	960	c.548G>A	c.(547-549)cGt>cAt	p.R183H	HOXD3_ENST00000468418.3_5'UTR|MIR10B_ENST00000385011.1_RNA	NM_014621.2	NP_055436.2	P09016	HXD4_HUMAN	homeobox D4	183					multicellular organismal development (GO:0007275)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	9			OV - Ovarian serous cystadenocarcinoma(117;0.00765)|Epithelial(96;0.105)	Colorectal(32;0.0224)|READ - Rectum adenocarcinoma(9;0.0556)		ACAAGGCGCCGTCGGATTGAA	0.527																																						ENST00000306324.3																			0				kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	9						c.(547-549)cGt>cAt		homeobox D4							73	76	75					2																	177017450		2203	4300	6503	SO:0001583	missense	3233					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:177017450G>A		CCDS2269.1	2q31.1	2011-06-20	2005-12-22		ENSG00000170166	ENSG00000170166		"Homeoboxes / ANTP class : HOXL subclass"	5138	protein-coding gene	gene with protein product		142981	"homeo box D4"	HOX4B, HOX4		1973146, 1358459	Standard	NM_014621		Approved		uc002uks.3	P09016	OTTHUMG00000132515	ENST00000306324.3:c.548G>A	2.37:g.177017450G>A	ENSP00000302548:p.Arg183His					HOXD3_ENST00000468418.3_5'UTR	p.R183H	NM_014621.2	NP_055436.2	P09016	HXD4_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00765)|Epithelial(96;0.105)	Colorectal(32;0.0224)|READ - Rectum adenocarcinoma(9;0.0556)	2	960	+			183					B2R9R3|Q96AU0	Missense_Mutation	SNP	ENST00000306324.3	37	c.548G>A	CCDS2269.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.043444	0.75732	.	.	ENSG00000170166	ENST00000306324	D	0.96168	-3.93	5.38	5.38	0.77491	Homeobox, eukaryotic (1);Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	D	0.98482	0.9494	M	0.94142	3.5	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99525	1.0959	10	0.87932	D	0	.	19.1342	0.93420	0.0:0.0:1.0:0.0	.	183	P09016	HXD4_HUMAN	H	183	ENSP00000302548:R183H	ENSP00000302548:R183H	R	+	2	0	HOXD4	176725696	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.859000	0.99545	2.516000	0.84829	0.643000	0.83706	CGT		0.527	HOXD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255697.2			6	71	0	0	0	0.001168	0	6	71					A	177017450	G	A	177017450	3	1	150	1	0	0	0	0	1	0	0	0	7324	1145	40	1	554	1	HOXD4	2	177017450	Missense_Mutation	SNP	G	TCGA-G9-6333-01A-12D-1961-08		177017450	66181923	6	7361											
INPP5D	3635	broad.mit.edu	37	chr2	233925310	233925310	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtccatctcccgggcatacgCgctctgcgtgctgtgagtac	5	10	12	14	4	2	1	0	1	2	0	4	1	3	1	2	1	4	4	2	1	2	2			TCGA-G9-6333-01A-12D-1961-08	TCGA-G9-6333-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ec7131a-d645-47a5-baa3-10b19f243846	62d82fd8-e94f-4dae-a171-a8eab417bc41	g.chr2:233925310C>T	ENST00000359570.5	+	1	122	c.122C>T	c.(121-123)gCg>gTg	p.A41V	INPP5D_ENST00000538935.1_Missense_Mutation_p.A41V			Q92835	SHIP1_HUMAN	inositol polyphosphate-5-phosphatase, 145kDa	41	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|determination of adult lifespan (GO:0008340)|immunoglobulin mediated immune response (GO:0016064)|inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|leukocyte migration (GO:0050900)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of bone resorption (GO:0045779)|negative regulation of immune response (GO:0050777)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|negative regulation of monocyte differentiation (GO:0045656)|negative regulation of neutrophil differentiation (GO:0045659)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of signal transduction (GO:0009968)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|positive regulation of apoptotic process (GO:0043065)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of erythrocyte differentiation (GO:0045648)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)	cytosol (GO:0005829)|membrane (GO:0016020)	inositol-polyphosphate 5-phosphatase activity (GO:0004445)|phosphatidylinositol trisphosphate phosphatase activity (GO:0034594)			central_nervous_system(1)|ovary(1)	2		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843)		Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185)		CGGGCATACGCGCTCTGCGTG	0.612																																					NSCLC(82;1215 1426 16163 20348 41018)	ENST00000359570.5																			0				central_nervous_system(1)|ovary(1)	2						c.(121-123)gCg>gTg		inositol polyphosphate-5-phosphatase, 145kDa							47	52	50					2																	233925310		2078	4202	6280	SO:0001583	missense	3635				apoptosis|blood coagulation|leukocyte migration|T cell receptor signaling pathway	cytosol	inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|SH3 domain binding	g.chr2:233925310C>T	U57650	CCDS74672.1	2q37.1	2013-02-14	2002-08-29		ENSG00000168918	ENSG00000168918		"SH2 domain containing"	6079	protein-coding gene	gene with protein product		601582	"inositol polyphosphate-5-phosphatase, 145kD"			8643691, 8874179	Standard	NM_001017915		Approved	SHIP, hp51CN	uc010zmp.2	Q92835	OTTHUMG00000133688	ENST00000359570.5:c.122C>T	2.37:g.233925310C>T	ENSP00000352575:p.Ala41Val					INPP5D_ENST00000538935.1_Missense_Mutation_p.A41V	p.A41V			Q92835	SHIP1_HUMAN		Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185)	1	122	+		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843)	41			SH2.		O00145|Q13544|Q13545|Q6P5A4|Q92656|Q9UE80	Missense_Mutation	SNP	ENST00000359570.5	37	c.122C>T		.	.	.	.	.	.	.	.	.	.	C	27.8	4.861212	0.91433	.	.	ENSG00000168918	ENST00000422935;ENST00000451407;ENST00000359570;ENST00000538935	D;D;D;D	0.87887	-2.31;-2.31;-2.31;-2.31	4.83	3.93	0.45458	SH2 motif (4);	0.179904	0.48286	D	0.000189	D	0.92789	0.7707	.	.	.	0.48236	D	0.999614	D;D	0.89917	0.999;1.0	D;D	0.67103	0.915;0.949	D	0.93471	0.6819	9	0.87932	D	0	.	14.3637	0.66789	0.1492:0.8508:0.0:0.0	.	41;41	Q92835-2;Q92835	.;SHIP1_HUMAN	V	41	ENSP00000409018:A41V;ENSP00000415253:A41V;ENSP00000352575:A41V;ENSP00000441010:A41V	ENSP00000352575:A41V	A	+	2	0	INPP5D	233633554	1.000000	0.71417	0.999000	0.59377	0.946000	0.59487	7.130000	0.77235	1.015000	0.39444	0.485000	0.47835	GCG		0.612	INPP5D-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001017915		12	51	0	0	0	0.010729	0	12	51					T	233925310	C	T	233925310	3	4	150	1	0	0	0	0	1	0	0	0	7756	768	27	1	124	1	INPP5D	2	233925310	Missense_Mutation	SNP	C	TCGA-G9-6333-01A-12D-1961-08	56907860	233925310	9274063	7	7362											
ROBO1	6091	broad.mit.edu	37	chr3	78685112	78685112	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctgatggattgacaaaacGcccatccttcagatttgggc	10	10	9	12	1	1	3	1	2	0	1	2	4	2	4	3	2	1	0	3	2	2	3			TCGA-G9-6333-01A-12D-1961-08	TCGA-G9-6333-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ec7131a-d645-47a5-baa3-10b19f243846	62d82fd8-e94f-4dae-a171-a8eab417bc41	g.chr3:78685112G>A	ENST00000464233.1	-	23	3297	c.3184C>T	c.(3184-3186)Cgt>Tgt	p.R1062C	ROBO1_ENST00000467549.1_Intron|ROBO1_ENST00000495273.1_Missense_Mutation_p.R1017C|ROBO1_ENST00000436010.2_Missense_Mutation_p.R1023C	NM_002941.3	NP_002932.1	Q9Y6N7	ROBO1_HUMAN	roundabout, axon guidance receptor, homolog 1 (Drosophila)	1062					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|cell adhesion (GO:0007155)|cell migration involved in sprouting angiogenesis (GO:0002042)|chemorepulsion involved in postnatal olfactory bulb interneuron migration (GO:0021836)|homophilic cell adhesion (GO:0007156)|mammary duct terminal end bud growth (GO:0060763)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|negative regulation of negative chemotaxis (GO:0050925)|nervous system development (GO:0007399)|positive regulation of axonogenesis (GO:0050772)|Roundabout signaling pathway (GO:0035385)	axolemma (GO:0030673)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	axon guidance receptor activity (GO:0008046)|identical protein binding (GO:0042802)|LRR domain binding (GO:0030275)			breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1)	44		Lung SC(41;0.0257)|Lung NSC(201;0.0439)		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)		TTGACAAAACGCCCATCCTTC	0.468																																						ENST00000436010.2																			0				breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1)	44						c.(3067-3069)Cgt>Tgt		roundabout, axon guidance receptor, homolog 1 (Drosophila)							151	154	153					3																	78685112		2100	4224	6324	SO:0001583	missense	6091				activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis|Roundabout signaling pathway	cell surface|cytoplasm|integral to plasma membrane	axon guidance receptor activity|identical protein binding|LRR domain binding	g.chr3:78685112G>A	AF040990	CCDS46872.1, CCDS46872.2, CCDS54610.1, CCDS54611.1	3p12.3	2013-02-11	2001-11-28		ENSG00000169855	ENSG00000169855		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	10249	protein-coding gene	gene with protein product		602430	"roundabout (axon guidance receptor, Drosophila) homolog 1"			9458045, 9608531	Standard	NM_002941		Approved	DUTT1, FLJ21882, SAX3	uc003dqe.2	Q9Y6N7	OTTHUMG00000158843	ENST00000464233.1:c.3184C>T	3.37:g.78685112G>A	ENSP00000420321:p.Arg1062Cys					ROBO1_ENST00000464233.1_Missense_Mutation_p.R1062C|ROBO1_ENST00000467549.1_Intron|ROBO1_ENST00000495273.1_Missense_Mutation_p.R1017C	p.R1023C			Q9Y6N7	ROBO1_HUMAN		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)	21	4064	-		Lung SC(41;0.0257)|Lung NSC(201;0.0439)	1062					B2RXI1|D3DU36|E9PD49|Q1RMC7|Q7Z300|Q9BUS7	Missense_Mutation	SNP	ENST00000464233.1	37	c.3067C>T	CCDS54611.1	.	.	.	.	.	.	.	.	.	.	G	15.79	2.936108	0.52972	.	.	ENSG00000169855	ENST00000436010;ENST00000398412;ENST00000464233;ENST00000495273;ENST00000398414	T;T;T	0.61980	0.09;0.06;0.12	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	T	0.71375	0.3332	L	0.44542	1.39	0.80722	D	1	D;D;B;D	0.89917	1.0;0.996;0.092;0.999	D;P;B;D	0.83275	0.996;0.786;0.019;0.921	T	0.68644	-0.5354	9	.	.	.	.	13.1478	0.59472	0.0:0.0:0.7365:0.2635	.	1026;1062;1017;1023	Q9Y6N7-3;Q9Y6N7;B2RXI1;Q9Y6N7-4	.;ROBO1_HUMAN;.;.	C	1023;1017;1062;1017;1066	ENSP00000406043:R1023C;ENSP00000420321:R1062C;ENSP00000420637:R1017C	.	R	-	1	0	ROBO1	78767802	1.000000	0.71417	1.000000	0.80357	0.883000	0.51084	4.581000	0.60949	2.765000	0.95021	0.650000	0.86243	CGT		0.468	ROBO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352610.1	NM_002941		6	116	0	0	0	0.001168	0	6	116					A	78685112	G	A	78685112	3	1	150	1	0	0	0	0	1	0	0	0	13513	1087	38	1	1807	1	ROBO1	3	78685112	Missense_Mutation	SNP	G	TCGA-G9-6333-01A-12D-1961-08		78685112	119337318	8	7363											
MME	4311	broad.mit.edu	37	chr3	154861330	154861330	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtggggaggctttatgtggaAgcagcatttgctggagagag	9	10	18	4	0	0	1	0	0	0	1	0	5	0	4	0	5	3	4	0	5	2	3			TCGA-G9-6333-01A-12D-1961-08	TCGA-G9-6333-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ec7131a-d645-47a5-baa3-10b19f243846	62d82fd8-e94f-4dae-a171-a8eab417bc41	g.chr3:154861330A>G	ENST00000460393.1	+	13	1407	c.1287A>G	c.(1285-1287)gaA>gaG	p.E429E	MME_ENST00000492661.1_Silent_p.E429E|MME_ENST00000493237.1_Silent_p.E429E|MME_ENST00000360490.2_Silent_p.E429E|MME_ENST00000462745.1_Silent_p.E429E	NM_000902.3|NM_007287.2	NP_000893.2|NP_009218.2	P08473	NEP_HUMAN	membrane metallo-endopeptidase	429					angiotensin maturation (GO:0002003)|beta-amyloid metabolic process (GO:0050435)|cellular protein metabolic process (GO:0044267)|cellular response to cytokine stimulus (GO:0071345)|cellular response to UV-A (GO:0071492)|cellular response to UV-B (GO:0071493)|creatinine metabolic process (GO:0046449)|kidney development (GO:0001822)|peptide metabolic process (GO:0006518)|proteolysis (GO:0006508)|replicative senescence (GO:0090399)|sensory perception of pain (GO:0019233)	axon (GO:0030424)|brush border (GO:0005903)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|neuron projection terminus (GO:0044306)|plasma membrane (GO:0005886)|synapse (GO:0045202)|synaptic vesicle (GO:0008021)	endopeptidase activity (GO:0004175)|metalloendopeptidase activity (GO:0004222)|peptide binding (GO:0042277)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(31)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64		all_neural(597;0.00391)|Myeloproliferative disorder(1037;0.0122)	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.135)		Candoxatril(DB00616)|Liraglutide(DB06655)	TTTATGTGGAAGCAGCATTTG	0.413																																						ENST00000460393.1																			0				central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(31)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64						c.(1285-1287)gaA>gaG		membrane metallo-endopeptidase	Candoxatril(DB00616)						211	207	209					3																	154861330		2203	4300	6503	SO:0001819	synonymous_variant	4311				cell-cell signaling|proteolysis	integral to plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding	g.chr3:154861330A>G		CCDS3172.1	3q25.2	2012-01-31	2007-02-21		ENSG00000196549	ENSG00000196549	3.4.24.11	"CD molecules"	7154	protein-coding gene	gene with protein product	"neutral endopeptidase", "enkephalinase", "neprilysin"	120520					Standard	NM_007287		Approved	CALLA, CD10, NEP	uc003fad.1	P08473	OTTHUMG00000158455	ENST00000460393.1:c.1287A>G	3.37:g.154861330A>G						MME_ENST00000492661.1_Silent_p.E429E|MME_ENST00000493237.1_Silent_p.E429E|MME_ENST00000360490.2_Silent_p.E429E|MME_ENST00000462745.1_Silent_p.E429E	p.E429E	NM_000902.3|NM_007287.2	NP_000893.2|NP_009218.2	P08473	NEP_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.135)		13	1407	+		all_neural(597;0.00391)|Myeloproliferative disorder(1037;0.0122)	429					A8K6U6|D3DNJ9|Q3MIX4	Silent	SNP	ENST00000460393.1	37	c.1287A>G	CCDS3172.1																																																																																				0.413	MME-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351076.1	NM_000902		20	91	0	0	0	0.010504	0	20	91					G	154861330	A	G	154861330	2	3	150	1	0	0	0	0	0	0	0	1	9645	69	3	4		4	MME	3	154861330	Silent	SNP	A	TCGA-G9-6333-01A-12D-1961-08	76176218	154861330	43161100	9	7364											
FAM190A	401145	broad.mit.edu	37	chr4	91229733	91229733	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctcaacctggtcacagcaatAtgcagaaactgagtttggaa	14	9	9	9	0	2	2	2	1	0	1	2	3	2	3	1	2	4	3	1	2	5	2			TCGA-G9-6333-01A-12D-1961-08	TCGA-G9-6333-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ec7131a-d645-47a5-baa3-10b19f243846	62d82fd8-e94f-4dae-a171-a8eab417bc41	g.chr4:91229733A>C	ENST00000509176.1	+	2	586	c.298A>C	c.(298-300)Atg>Ctg	p.M100L	CCSER1_ENST00000432775.2_Missense_Mutation_p.M100L|CCSER1_ENST00000333691.8_Missense_Mutation_p.M100L	NM_001145065.1	NP_001138537.1	Q9C0I3	CCSE1_HUMAN	coiled-coil serine-rich protein 1	100																	TCACAGCAATATGCAGAAACT	0.408																																						ENST00000509176.1																			0											c.(298-300)Atg>Ctg		coiled-coil serine-rich protein 1							107	99	102					4																	91229733		1877	4112	5989	SO:0001583	missense	401145							g.chr4:91229733A>C		CCDS47099.1, CCDS47100.1	4q22.1	2012-12-03	2012-12-03	2012-12-03	ENSG00000184305	ENSG00000184305			29349	protein-coding gene	gene with protein product			"family with sequence similarity 190, member A"	FAM190A		11214970	Standard	NM_001145065		Approved	KIAA1680	uc003hsv.4	Q9C0I3	OTTHUMG00000160950	ENST00000509176.1:c.298A>C	4.37:g.91229733A>C	ENSP00000425040:p.Met100Leu					CCSER1_ENST00000432775.2_Missense_Mutation_p.M100L|CCSER1_ENST00000333691.8_Missense_Mutation_p.M100L	p.M100L	NM_001145065.1	NP_001138537.1					2	586	+								Q4W5M0|Q86V57	Missense_Mutation	SNP	ENST00000509176.1	37	c.298A>C	CCDS47099.1	.	.	.	.	.	.	.	.	.	.	A	5.629	0.300712	0.10678	.	.	ENSG00000184305	ENST00000509176;ENST00000432775;ENST00000333691;ENST00000458365	T;T;T	0.39787	1.61;1.06;1.61	5.18	-0.519	0.11939	.	0.894192	0.10087	N	0.717668	T	0.21427	0.0516	N	0.25647	0.755	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.29212	-1.0019	10	0.06757	T	0.87	-2.0694	4.2399	0.10643	0.3561:0.0:0.1718:0.4721	.	100;100;100	Q9C0I3-2;Q9C0I3;E7EUW0	.;F190A_HUMAN;.	L	100	ENSP00000425040:M100L;ENSP00000389283:M100L;ENSP00000329482:M100L	ENSP00000329482:M100L	M	+	1	0	FAM190A	91448756	0.998000	0.40836	0.100000	0.21137	0.994000	0.84299	1.369000	0.34227	0.121000	0.18284	0.533000	0.62120	ATG		0.408	CCSER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363109.3	NM_001145065		5	85	0	0	0	0.001168	0	5	85					C	91229733	A	C	91229733	3	2	150	1	0	0	0	0	1	0	0	0	5521	449	16	5	300	5	FAM190A	4	91229733	Missense_Mutation	SNP	A	TCGA-G9-6333-01A-12D-1961-08		91229733	99924543	10	7365											
TRIO	7204	broad.mit.edu	37	chr5	14363859	14363859	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agattatctcagacctcgagTcttggaatgatgagctttct	10	14	9	8	1	3	4	1	2	3	2	5	6	3	5	1	1	1	1	1	1	2	3			TCGA-G9-6333-01A-12D-1961-08	TCGA-G9-6333-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ec7131a-d645-47a5-baa3-10b19f243846	62d82fd8-e94f-4dae-a171-a8eab417bc41	g.chr5:14363859T>G	ENST00000344204.4	+	14	2434	c.2410T>G	c.(2410-2412)Tct>Gct	p.S804A	TRIO_ENST00000509967.2_Missense_Mutation_p.S755A|TRIO_ENST00000537187.1_Missense_Mutation_p.S804A	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	804					apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	cytosol (GO:0005829)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					AGACCTCGAGTCTTGGAATGA	0.438																																						ENST00000344204.4																			0				NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118						c.(2410-2412)Tct>Gct		trio Rho guanine nucleotide exchange factor							110	108	108					5																	14363859		2203	4300	6503	SO:0001583	missense	7204				apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity	g.chr5:14363859T>G	AF091395	CCDS3883.1	5p14-p15.1	2013-01-11	2012-07-12		ENSG00000038382	ENSG00000038382		"Rho guanine nucleotide exchange factors", "Immunoglobulin superfamily / I-set domain containing"	12303	protein-coding gene	gene with protein product		601893	"triple functional domain (PTPRF interacting)"			8643598	Standard	NM_007118		Approved	ARHGEF23	uc003jff.3	O75962	OTTHUMG00000131057	ENST00000344204.4:c.2410T>G	5.37:g.14363859T>G	ENSP00000339299:p.Ser804Ala					TRIO_ENST00000509967.2_Missense_Mutation_p.S755A|TRIO_ENST00000537187.1_Missense_Mutation_p.S804A	p.S804A	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN			14	2434	+	Lung NSC(4;0.000742)		804					D3DTD1|Q13458|Q59EQ7|Q6PJC9|Q6ZN05|Q8IWK8	Missense_Mutation	SNP	ENST00000344204.4	37	c.2410T>G	CCDS3883.1	.	.	.	.	.	.	.	.	.	.	T	7.185	0.590403	0.13812	.	.	ENSG00000038382	ENST00000344204;ENST00000537187;ENST00000509967;ENST00000513206	T;T;T	0.42131	0.98;0.98;0.98	5.03	5.03	0.67393	.	0.119414	0.64402	D	0.000014	T	0.13372	0.0324	N	0.00707	-1.245	0.50632	D	0.999888	B;B;B	0.27416	0.002;0.178;0.012	B;B;B	0.24155	0.005;0.051;0.005	T	0.29822	-0.9999	10	0.05721	T	0.95	.	14.7897	0.69830	0.0:0.0:0.0:1.0	.	755;804;804	F5H228;O75962-5;O75962	.;.;TRIO_HUMAN	A	804;804;755;491	ENSP00000339299:S804A;ENSP00000446348:S804A;ENSP00000445592:S755A	ENSP00000339299:S804A	S	+	1	0	TRIO	14416859	1.000000	0.71417	0.999000	0.59377	0.910000	0.53928	4.017000	0.57167	1.908000	0.55244	0.533000	0.62120	TCT		0.438	TRIO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253711.2	NM_007118		6	85	0	0	0	0.001168	0	6	85					G	14363859	T	G	14363859	3	3	150	1	0	0	0	0	1	0	0	0	16549	1667	58	5	2464	5	TRIO	5	14363859	Missense_Mutation	SNP	T	TCGA-G9-6333-01A-12D-1961-08		14363859	166551401	11	7366											
MAST4	375449	broad.mit.edu	37	chr5	66458987	66458987	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	atccacaggtactaattcctCccagagcagctcccctagtt	10	10	6	15	0	0	1	0	0	0	1	4	1	4	1	5	1	3	4	5	1	3	5			TCGA-G9-6333-01A-12D-1961-08	TCGA-G9-6333-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ec7131a-d645-47a5-baa3-10b19f243846	62d82fd8-e94f-4dae-a171-a8eab417bc41	g.chr5:66458987C>T	ENST00000403625.2	+	29	4275	c.3980C>T	c.(3979-3981)tCc>tTc	p.S1327F	MAST4_ENST00000261569.7_Missense_Mutation_p.S1133F|MAST4_ENST00000405643.1_Missense_Mutation_p.S1148F|MAST4_ENST00000404260.3_Missense_Mutation_p.S1330F|MAST4_ENST00000403666.1_Missense_Mutation_p.S1138F	NM_001164664.1	NP_001158136.1	O15021	MAST4_HUMAN	microtubule associated serine/threonine kinase family member 4	1330	Ser-rich.					cytoplasm (GO:0005737)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)		ACTAATTCCTCCCAGAGCAGC	0.552																																						ENST00000404260.3																			0				breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13						c.(3988-3990)tCc>tTc		microtubule associated serine/threonine kinase family member 4							108	117	114					5																	66458987		1934	4118	6052	SO:0001583	missense	375449					cytoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr5:66458987C>T	AY830839	CCDS47224.1, CCDS47225.1, CCDS54861.1, CCDS75254.1	5q12.3	2007-06-20			ENSG00000069020	ENSG00000069020			19037	protein-coding gene	gene with protein product						9205841	Standard	NM_198828		Approved	KIAA0303	uc021xzk.1	O15021	OTTHUMG00000152471	ENST00000403625.2:c.3980C>T	5.37:g.66458987C>T	ENSP00000385727:p.Ser1327Phe					MAST4_ENST00000403625.2_Missense_Mutation_p.S1327F|MAST4_ENST00000405643.1_Missense_Mutation_p.S1148F|MAST4_ENST00000403666.1_Missense_Mutation_p.S1138F|MAST4_ENST00000261569.7_Missense_Mutation_p.S1133F	p.S1330F			O15021	MAST4_HUMAN		Lung(70;0.011)	29	4297	+		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)	1330			Ser-rich.		A6NL49|B5ME48|Q05EE6|Q6ZN07|Q8N4X4|Q96LY3	Missense_Mutation	SNP	ENST00000403625.2	37	c.3989C>T	CCDS54861.1	.	.	.	.	.	.	.	.	.	.	C	25.4	4.629424	0.87660	.	.	ENSG00000069020	ENST00000404260;ENST00000403625;ENST00000403666;ENST00000405643;ENST00000380908;ENST00000261569	T;T;T;T;T	0.41400	1.0;1.0;1.0;1.0;1.0	5.74	5.74	0.90152	.	0.056550	0.64402	D	0.000001	T	0.70842	0.3270	M	0.85373	2.75	0.52099	D	0.999941	D;D	0.89917	0.999;1.0	D;D	0.83275	0.994;0.996	T	0.74250	-0.3726	10	0.72032	D	0.01	-11.0371	19.9853	0.97342	0.0:1.0:0.0:0.0	.	1330;1138	O15021;O15021-3	MAST4_HUMAN;.	F	1330;1327;1138;1148;1148;1133	ENSP00000385048:S1330F;ENSP00000385727:S1327F;ENSP00000384313:S1138F;ENSP00000384099:S1148F;ENSP00000261569:S1133F	ENSP00000261569:S1133F	S	+	2	0	MAST4	66494743	1.000000	0.71417	1.000000	0.80357	0.912000	0.54170	7.776000	0.85560	2.741000	0.93983	0.549000	0.68633	TCC		0.552	MAST4-001	NOVEL	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000326324.2			12	222	0	0	0	0.001855	0	12	222					T	66458987	C	T	66458987	3	4	150	1	0	0	0	0	1	0	0	0	9327	855	30	3	4224	3	MAST4	5	66458987	Missense_Mutation	SNP	C	TCGA-G9-6333-01A-12D-1961-08	52095128	66458987	114456273	12	7367											
CAMK4	814	broad.mit.edu	37	chr5	110710553	110710554	+	Frame_Shift_Ins	INS	-	-	A																															attttgccttttaggtggacINSaaaaaaatcgtaagaactga																										TCGA-G9-6333-01A-12D-1961-08	TCGA-G9-6333-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ec7131a-d645-47a5-baa3-10b19f243846	62d82fd8-e94f-4dae-a171-a8eab417bc41	g.chr5:110710553_110710554insA	ENST00000282356.4	+	3	644_645	c.246_247insA	c.(247-249)aaafs	p.K83fs	CAMK4_ENST00000512453.1_Frame_Shift_Ins_p.K83fs	NM_001744.4	NP_001735.1	Q16566	KCC4_HUMAN	calcium/calmodulin-dependent protein kinase IV	83	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of phospholipase C activity (GO:0007202)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|long-term memory (GO:0007616)|myeloid dendritic cell differentiation (GO:0043011)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nucleocytoplasmic transport (GO:0006913)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of osteoclast differentiation (GO:0045670)|regulation of T cell differentiation in thymus (GO:0033081)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(3)|prostate(2)|skin(1)|urinary_tract(1)	30		all_cancers(142;1.49e-05)|all_epithelial(76;1.82e-07)|Prostate(80;0.00964)|all_lung(232;0.0181)|Lung NSC(167;0.0298)|Ovarian(225;0.0446)|Colorectal(57;0.0478)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;3.79e-08)|Epithelial(69;5.29e-08)|all cancers(49;1.1e-05)|COAD - Colon adenocarcinoma(37;0.109)		TTTAGGTGGACAAAAAAATCGT	0.376																																						ENST00000282356.4																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(3)|prostate(2)|skin(1)|urinary_tract(1)	30						c.(244-249)gaaaaafs		calcium/calmodulin-dependent protein kinase IV																																				SO:0001589	frameshift_variant	814				activation of phospholipase C activity|nerve growth factor receptor signaling pathway|synaptic transmission	cytosol|nucleoplasm	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity	g.chr5:110710553_110710554insA	D30742	CCDS4103.1	5q22.1	2012-09-20			ENSG00000152495	ENSG00000152495	2.7.11.17		1464	protein-coding gene	gene with protein product	"brain Ca++-calmodulin-dependent protein kinase type IV", "calcium/calmodulin-dependent protein kinase type IV catalytic chain", "CAM kinase IV", "CAM kinase- GR"	114080				2536634	Standard	NM_001744		Approved	CaMK-GR	uc003kpf.3	Q16566	OTTHUMG00000128792	ENST00000282356.4:c.253dupA	5.37:g.110710560_110710560dupA	ENSP00000282356:p.Lys83fs					CAMK4_ENST00000512453.1_Frame_Shift_Ins_p.EK82fs	p.EK82fs	NM_001744.4	NP_001735.1	Q16566	KCC4_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;3.79e-08)|Epithelial(69;5.29e-08)|all cancers(49;1.1e-05)|COAD - Colon adenocarcinoma(37;0.109)	3	644_645	+		all_cancers(142;1.49e-05)|all_epithelial(76;1.82e-07)|Prostate(80;0.00964)|all_lung(232;0.0181)|Lung NSC(167;0.0298)|Ovarian(225;0.0446)|Colorectal(57;0.0478)|Breast(839;0.244)	82			Protein kinase.		D3DSZ7	Frame_Shift_Ins	INS	ENST00000282356.4	37	c.246_247insA	CCDS4103.1																																																																																				0.376	CAMK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250719.2	NM_001744		15	51						15	51	---	---	---	---	A	110710554	-	A	110710553	7	5	150	1	0	1	1	0	0	0	0	0	2605	477	17	0	256	0	CAMK4	5	110710553	Frame_Shift_Ins	INS	-	TCGA-G9-6333-01A-12D-1961-08	44251566	110710553	70204707	13	7368											
PHACTR1	221692	broad.mit.edu	37	chr6	13228134	13228134	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	caccaaagcaggacctatggGccttccagaaataagacaag	16	5	9	11	0	0	2	0	0	0	2	1	3	1	3	4	2	1	1	4	2	5	3			TCGA-G9-6333-01A-12D-1961-08	TCGA-G9-6333-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ec7131a-d645-47a5-baa3-10b19f243846	62d82fd8-e94f-4dae-a171-a8eab417bc41	g.chr6:13228134G>A	ENST00000379350.1	+	8	1202	c.1073G>A	c.(1072-1074)gGc>gAc	p.G358D	PHACTR1_ENST00000379345.2_Intron|PHACTR1_ENST00000332995.7_Missense_Mutation_p.G358D|PHACTR1_ENST00000457702.2_Missense_Mutation_p.G213D			Q9C0D0	PHAR1_HUMAN	phosphatase and actin regulator 1	358					actin cytoskeleton reorganization (GO:0031532)|actomyosin structure organization (GO:0031032)|cell motility (GO:0048870)|stress fiber assembly (GO:0043149)	cell junction (GO:0030054)|cytosol (GO:0005829)|nucleus (GO:0005634)|synapse (GO:0045202)	actin binding (GO:0003779)|protein phosphatase inhibitor activity (GO:0004864)			breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	26	Breast(50;0.0427)|Ovarian(93;0.12)	all_hematologic(90;0.122)|Lung SC(78;0.195)	Epithelial(50;0.146)|BRCA - Breast invasive adenocarcinoma(129;0.239)			GGACCTATGGGCCTTCCAGAA	0.483																																						ENST00000379350.1																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	26						c.(1072-1074)gGc>gAc		phosphatase and actin regulator 1							165	166	166					6																	13228134		1940	4141	6081	SO:0001583	missense	221692					cell junction|cytoplasm|synapse	actin binding|protein phosphatase inhibitor activity	g.chr6:13228134G>A	AB051520	CCDS75401.1	6p23	2013-01-24	2004-05-20	2004-05-21	ENSG00000112137	ENSG00000112137		"Phosphatase and actin regulators"	20990	protein-coding gene	gene with protein product		608723	"RPEL repeat containing 1"	RPEL1		11214970, 15107502	Standard	NM_030948		Approved	KIAA1733, dJ257A7.2	uc010jpc.3	Q9C0D0	OTTHUMG00000014270	ENST00000379350.1:c.1073G>A	6.37:g.13228134G>A	ENSP00000368655:p.Gly358Asp					PHACTR1_ENST00000332995.7_Missense_Mutation_p.G358D|PHACTR1_ENST00000457702.2_Missense_Mutation_p.G213D|PHACTR1_ENST00000379345.2_Intron	p.G358D			Q9C0D0	PHAR1_HUMAN	Epithelial(50;0.146)|BRCA - Breast invasive adenocarcinoma(129;0.239)		8	1202	+	Breast(50;0.0427)|Ovarian(93;0.12)	all_hematologic(90;0.122)|Lung SC(78;0.195)	358					A8K1V2|Q3MJ93|Q5JSJ2	Missense_Mutation	SNP	ENST00000379350.1	37	c.1073G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	22.0|22.0	4.225531|4.225531	0.79576|0.79576	.|.	.|.	ENSG00000112137|ENSG00000112137	ENST00000415087|ENST00000379350;ENST00000332995;ENST00000432934;ENST00000457702	.|T;T;T	.|0.33654	.|1.4;1.44;1.48	5.87|5.87	5.87|5.87	0.94306|0.94306	.|.	.|0.218683	.|0.48767	.|D	.|0.000173	T|T	0.38214|0.38214	0.1032|0.1032	N|N	0.14661|0.14661	0.345|0.345	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|1.0;0.999;0.999	.|D;D;D	.|0.97110	.|1.0;0.922;0.964	T|T	0.41787|0.41787	-0.9489|-0.9489	5|10	.|0.62326	.|D	.|0.03	-20.4581|-20.4581	19.5705|19.5705	0.95413|0.95413	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|427;358;358	.|E7ESR5;Q9C0D0;Q9C0D0-2	.|.;PHAR1_HUMAN;.	T|D	193|358;358;427;213	.|ENSP00000368655:G358D;ENSP00000329880:G358D;ENSP00000397669:G213D	.|ENSP00000329880:G358D	A|G	+|+	1|2	0|0	PHACTR1|PHACTR1	13336113|13336113	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	4.666000|4.666000	0.61554|0.61554	2.941000|2.941000	0.99782|0.99782	0.655000|0.655000	0.94253|0.94253	GCC|GGC		0.483	PHACTR1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000039876.1	XM_166420		18	160	0	0	0	0.007413	0	18	160					A	13228134	G	A	13228134	3	1	150	1	0	0	0	0	1	0	0	0	11809	1203	42	3	1099	3	PHACTR1	6	13228134	Missense_Mutation	SNP	G	TCGA-G9-6333-01A-12D-1961-08		13228134	157886933	14	7369											
SP8	221833	broad.mit.edu	37	chr7	20824912	20824912	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggagatgaacaccggctggTgggagccgtcctgcgagtgc	7	7	17	10	3	0	2	0	1	0	1	1	5	1	3	3	4	4	1	3	4	1	0			TCGA-G9-6333-01A-12D-1961-08	TCGA-G9-6333-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ec7131a-d645-47a5-baa3-10b19f243846	62d82fd8-e94f-4dae-a171-a8eab417bc41	g.chr7:20824912T>C	ENST00000361443.4	-	3	707	c.470A>G	c.(469-471)cAc>cGc	p.H157R	SP8_ENST00000418710.2_Missense_Mutation_p.H175R	NM_198956.2	NP_945194.1	Q8IXZ3	SP8_HUMAN	Sp8 transcription factor	157					dorsal/ventral pattern formation (GO:0009953)|embryonic limb morphogenesis (GO:0030326)|proximal/distal pattern formation (GO:0009954)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(1)|large_intestine(2)|lung(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	8						CACCGGCTGGTGGGAGCCGTC	0.706																																						ENST00000361443.4																			0				NS(1)|central_nervous_system(1)|large_intestine(2)|lung(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	8						c.(469-471)cAc>cGc		Sp8 transcription factor							4	5	5					7																	20824912		1553	3089	4642	SO:0001583	missense	221833				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:20824912T>C		CCDS5372.1, CCDS43555.1	7p21.2	2013-01-08			ENSG00000164651	ENSG00000164651		"Specificity protein transcription factors", "Zinc fingers, C2H2-type"	19196	protein-coding gene	gene with protein product		608306					Standard	NM_182700		Approved		uc003suz.3	Q8IXZ3	OTTHUMG00000094788	ENST00000361443.4:c.470A>G	7.37:g.20824912T>C	ENSP00000354482:p.His157Arg					SP8_ENST00000418710.2_Missense_Mutation_p.H175R	p.H157R	NM_198956.2	NP_945194.1	Q8IXZ3	SP8_HUMAN			3	707	-			157					Q7Z615|Q7Z616|Q96MJ1	Missense_Mutation	SNP	ENST00000361443.4	37	c.470A>G	CCDS5372.1	.	.	.	.	.	.	.	.	.	.	T	15.61	2.884050	0.51908	.	.	ENSG00000164651	ENST00000297210;ENST00000418710;ENST00000361443	T;T	0.11277	2.79;2.79	3.26	3.26	0.37387	.	0.130609	0.50627	U	0.000104	T	0.11452	0.0279	L	0.53249	1.67	0.54753	D	0.999982	P;P	0.41524	0.753;0.753	B;B	0.40009	0.316;0.316	T	0.15521	-1.0434	10	0.22109	T	0.4	.	11.4081	0.49911	0.0:0.0:0.0:1.0	.	157;157	Q7Z615;Q8IXZ3	.;SP8_HUMAN	R	133;175;157	ENSP00000408792:H175R;ENSP00000354482:H157R	ENSP00000297210:H133R	H	-	2	0	SP8	20791437	1.000000	0.71417	0.996000	0.52242	0.965000	0.64279	1.592000	0.36676	1.355000	0.45865	0.260000	0.18958	CAC		0.706	SP8-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000326904.2			4	7	0	0	0	0.009096	0	4	7					C	20824912	T	C	20824912	3	2	150	1	0	0	0	0	1	0	0	0	14970	1696	59	4	1006	4	SP8	7	20824912	Missense_Mutation	SNP	T	TCGA-G9-6333-01A-12D-1961-08		20824912	138313751	15	7370											
LMTK2	22853	broad.mit.edu	37	chr7	97823753	97823753	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ccatcatcctcagcaacgagGacggaaggcacctgcggagt	11	5	12	13	3	2	0	2	0	0	0	3	4	3	3	3	4	3	2	3	4	2	0	rs373561525		TCGA-G9-6333-01A-12D-1961-08	TCGA-G9-6333-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ec7131a-d645-47a5-baa3-10b19f243846	62d82fd8-e94f-4dae-a171-a8eab417bc41	g.chr7:97823753G>T	ENST00000297293.5	+	11	4269	c.3976G>T	c.(3976-3978)Gac>Tac	p.D1326Y		NM_014916.3	NP_055731.2	Q8IWU2	LMTK2_HUMAN	lemur tyrosine kinase 2	1326					early endosome to late endosome transport (GO:0045022)|endocytic recycling (GO:0032456)|negative regulation of catalytic activity (GO:0043086)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|receptor recycling (GO:0001881)|transferrin transport (GO:0033572)	early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)	ATP binding (GO:0005524)|myosin VI binding (GO:0070853)|protein phosphatase inhibitor activity (GO:0004864)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3)	59	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)					CAGCAACGAGGACGGAAGGCA	0.622																																						ENST00000297293.5																			0				NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3)	59						c.(3976-3978)Gac>Tac		lemur tyrosine kinase 2							105	100	102					7																	97823753		2203	4300	6503	SO:0001583	missense	22853				early endosome to late endosome transport|endocytic recycling|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation|receptor recycling|transferrin transport	early endosome|Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|recycling endosome	ATP binding|myosin VI binding|protein phosphatase inhibitor activity|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr7:97823753G>T	AB029002	CCDS5654.1	7q22.1	2014-06-12			ENSG00000164715	ENSG00000164715			17880	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 100"	610989				15005709	Standard	NM_014916		Approved	KIAA1079, KPI2, KPI-2, cprk, LMR2, BREK, AATYK2, PPP1R100	uc003upd.2	Q8IWU2	OTTHUMG00000154256	ENST00000297293.5:c.3976G>T	7.37:g.97823753G>T	ENSP00000297293:p.Asp1326Tyr						p.D1326Y	NM_014916.3	NP_055731.2	Q8IWU2	LMTK2_HUMAN			11	4269	+	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)		1326					A4D272|Q75MG7|Q9UPS3	Missense_Mutation	SNP	ENST00000297293.5	37	c.3976G>T	CCDS5654.1	.	.	.	.	.	.	.	.	.	.	G	19.29	3.798275	0.70567	.	.	ENSG00000164715	ENST00000297293	T	0.80824	-1.42	6.08	5.19	0.71726	.	0.222398	0.53938	D	0.000052	D	0.87038	0.6078	M	0.72118	2.19	0.44254	D	0.997105	D	0.76494	0.999	P	0.60173	0.87	D	0.87772	0.2606	10	0.72032	D	0.01	.	14.7973	0.69886	0.0696:0.0:0.9304:0.0	.	1326	Q8IWU2	LMTK2_HUMAN	Y	1326	ENSP00000297293:D1326Y	ENSP00000297293:D1326Y	D	+	1	0	LMTK2	97661689	1.000000	0.71417	0.923000	0.36655	0.617000	0.37484	4.128000	0.57951	2.894000	0.99253	0.655000	0.94253	GAC		0.622	LMTK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334560.1	NM_014916		29	89	1	0	2.24059e-21	0.00632	5.62754e-21	29	89					T	97823753	G	T	97823753	3	4	150	1	0	0	0	0	1	0	0	0	8859	1174	41	5	4018	5	LMTK2	7	97823753	Missense_Mutation	SNP	G	TCGA-G9-6333-01A-12D-1961-08	76998841	97823753	61314910	16	7371											
AGK	55750	broad.mit.edu	37	chr7	141351367	141351367	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aagctgcacgtggagggcacGgagtgtctccaagccagcca	10	5	14	12	2	1	0	0	0	1	0	2	2	1	2	3	3	4	3	3	3	2	0			TCGA-G9-6333-01A-12D-1961-08	TCGA-G9-6333-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ec7131a-d645-47a5-baa3-10b19f243846	62d82fd8-e94f-4dae-a171-a8eab417bc41	g.chr7:141351367G>A	ENST00000355413.4	+	15	1349	c.1089G>A	c.(1087-1089)acG>acA	p.T363T	AGK_ENST00000535825.1_3'UTR|RP5-894A10.2_ENST00000467537.1_RNA|AGK_ENST00000473247.1_Silent_p.T335T	NM_018238.3	NP_060708.1	Q53H12	AGK_HUMAN	acylglycerol kinase	363					ceramide biosynthetic process (GO:0046513)|glycerolipid metabolic process (GO:0046486)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)	intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrion (GO:0005739)	acylglycerol kinase activity (GO:0047620)|ATP binding (GO:0005524)|ceramide kinase activity (GO:0001729)|diacylglycerol kinase activity (GO:0004143)|NAD+ kinase activity (GO:0003951)			breast(1)|endometrium(1)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(3)	17	Melanoma(164;0.0171)					TGGAGGGCACGGAGTGTCTCC	0.552																																						ENST00000355413.4																			0				breast(1)|endometrium(1)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(3)	17						c.(1087-1089)acG>acA		acylglycerol kinase							108	85	93					7																	141351367		2203	4300	6503	SO:0001819	synonymous_variant	55750				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway	mitochondrial membrane	acylglycerol kinase activity|ATP binding|diacylglycerol kinase activity|NAD+ kinase activity	g.chr7:141351367G>A	BC022777	CCDS5865.1	7q34	2010-05-04	2007-01-11	2007-01-11	ENSG00000006530	ENSG00000006530	2.7.1.94		21869	protein-coding gene	gene with protein product		610345	"multiple substrate lipid kinase"	MULK		15252046, 15939762, 17135245	Standard	NM_018238		Approved	FLJ10842	uc003vwi.2	Q53H12	OTTHUMG00000157499	ENST00000355413.4:c.1089G>A	7.37:g.141351367G>A						AGK_ENST00000473247.1_Silent_p.T335T|AGK_ENST00000535825.1_3'UTR	p.T363T	NM_018238.3	NP_060708.1	Q53H12	AGK_HUMAN			15	1349	+	Melanoma(164;0.0171)		363					Q75KN1|Q96GC3|Q9NP48	Silent	SNP	ENST00000355413.4	37	c.1089G>A	CCDS5865.1																																																																																				0.552	AGK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348969.1	NM_018238		5	78	0	0	0	0.001168	0	5	78					A	141351367	G	A	141351367	2	1	150	1	0	0	0	0	0	0	0	1	383	1103	39	2		2	AGK	7	141351367	Silent	SNP	G	TCGA-G9-6333-01A-12D-1961-08	43527614	141351367	17787296	17	7372											
ESYT2	57488	broad.mit.edu	37	chr7	158534551	158534551	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gacttgagctgagtgttggtGgtctggaggcctttctcgct	4	14	15	8	1	2	2	0	2	2	0	3	4	2	3	1	4	1	3	1	4	0	3			TCGA-G9-6333-01A-12D-1961-08	TCGA-G9-6333-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ec7131a-d645-47a5-baa3-10b19f243846	62d82fd8-e94f-4dae-a171-a8eab417bc41	g.chr7:158534551G>C	ENST00000251527.5	-	17	1977	c.1912C>G	c.(1912-1914)Cac>Gac	p.H638D	ESYT2_ENST00000435514.2_Missense_Mutation_p.H73D	NM_020728.2	NP_065779.1	A0FGR8	ESYT2_HUMAN	extended synaptotagmin-like protein 2	666			S -> G (in dbSNP:rs2305473). {ECO:0000269|PubMed:14702039}.		endocytosis (GO:0006897)|lipid transport (GO:0006869)	extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|integral component of plasma membrane (GO:0005887)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)|membrane (GO:0016020)|organelle membrane contact site (GO:0044232)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|identical protein binding (GO:0042802)|phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|phosphatidylinositol binding (GO:0035091)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(16)|prostate(2)	32						GAGTGTTGGTGGTCTGGAGGC	0.478																																						ENST00000251527.5																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(16)|prostate(2)	32						c.(1912-1914)Cac>Gac		extended synaptotagmin-like protein 2							73	81	78					7																	158534551		2198	4295	6493	SO:0001583	missense	57488					integral to membrane|plasma membrane		g.chr7:158534551G>C	AB033054	CCDS34791.1	7q36.3	2014-07-02	2009-06-23	2009-06-23	ENSG00000117868	ENSG00000117868		"Synaptotagmins"	22211	protein-coding gene	gene with protein product			"family with sequence similarity 62 (C2 domain containing), member B"	FAM62B		17672888	Standard	NM_020728		Approved	KIAA1228, CHR2SYT	uc003wob.1	A0FGR8	OTTHUMG00000151436	ENST00000251527.5:c.1912C>G	7.37:g.158534551G>C	ENSP00000251527:p.His638Asp					ESYT2_ENST00000435514.2_Missense_Mutation_p.H73D	p.H638D	NM_020728.2	NP_065779.1	A0FGR8	ESYT2_HUMAN			17	1977	-			666		S -> G (in dbSNP:rs2305473).			A4D229|Q69YJ2|Q6UKI4|Q6ZTU0|Q6ZVU1|Q9BQS0|Q9NW47|Q9ULJ2	Missense_Mutation	SNP	ENST00000251527.5	37	c.1912C>G	CCDS34791.1	.	.	.	.	.	.	.	.	.	.	G	1.164	-0.642951	0.03531	.	.	ENSG00000117868	ENST00000251527;ENST00000421679;ENST00000275418;ENST00000435514;ENST00000377650;ENST00000429474	T;T;T	0.22743	1.94;1.94;1.94	5.75	1.79	0.24919	C2 calcium/lipid-binding domain, CaLB (1);	0.562630	0.20891	N	0.083833	T	0.15392	0.0371	L	0.55481	1.735	0.35696	D	0.815191	B;B	0.22851	0.076;0.025	B;B	0.23574	0.047;0.045	T	0.14839	-1.0458	10	0.12103	T	0.63	-12.6164	4.7828	0.13210	0.3438:0.148:0.5082:0.0	.	638;666	A0FGR8-2;A0FGR8	.;ESYT2_HUMAN	D	638;687;629;73;73;462	ENSP00000251527:H638D;ENSP00000275418:H629D;ENSP00000411488:H73D	ENSP00000251527:H638D	H	-	1	0	ESYT2	158227312	1.000000	0.71417	0.990000	0.47175	0.123000	0.20343	1.791000	0.38744	0.306000	0.22856	-0.142000	0.14014	CAC		0.478	ESYT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322647.1	NM_020728		26	98	0	0	0	0.007291	0	26	98					C	158534551	G	C	158534551	3	2	150	1	0	0	0	0	1	0	0	0	5265	1348	47	5	793	5	ESYT2	7	158534551	Missense_Mutation	SNP	G	TCGA-G9-6333-01A-12D-1961-08	17183184	158534551	604112	18	7373											
ARFGEF1	10565	broad.mit.edu	37	chr8	68178397	68178397	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgtatctgtttattgtctcaGggtgtttgatttcactcatc	6	19	8	8	1	4	1	3	1	2	0	6	1	4	1	0	1	0	3	0	1	2	6			TCGA-G9-6333-01A-12D-1961-08	TCGA-G9-6333-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ec7131a-d645-47a5-baa3-10b19f243846	62d82fd8-e94f-4dae-a171-a8eab417bc41	g.chr8:68178397G>C	ENST00000262215.3	-	14	2356	c.1967C>G	c.(1966-1968)cCt>cGt	p.P656R	ARFGEF1_ENST00000520381.1_Missense_Mutation_p.P110R	NM_006421.4	NP_006412.2	Q9Y6D6	BIG1_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited)	656					endomembrane system organization (GO:0010256)|exocytosis (GO:0006887)|Golgi organization (GO:0007030)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of Rho GTPase activity (GO:0034259)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein glycosylation in Golgi (GO:0090284)|positive regulation of wound healing (GO:0090303)|protein transport (GO:0015031)|regulation of ARF protein signal transduction (GO:0032012)|regulation of establishment of cell polarity (GO:2000114)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|small nuclear ribonucleoprotein complex (GO:0030532)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|guanyl-nucleotide exchange factor activity (GO:0005085)|myosin binding (GO:0017022)|protein kinase A regulatory subunit binding (GO:0034237)	p.P656H(1)		breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)			TATTGTCTCAGGGTGTTTGAT	0.373																																						ENST00000262215.3																			1	Substitution - Missense(1)	p.P656H(1)	endometrium(1)	breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	65						c.(1966-1968)cCt>cGt		ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited)							133	123	127					8																	68178397		2202	4300	6502	SO:0001583	missense	10565				exocytosis|regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity|myosin binding	g.chr8:68178397G>C	AF084520	CCDS6199.1	8q13	2011-08-18	2011-08-18		ENSG00000066777	ENSG00000066777			15772	protein-coding gene	gene with protein product		604141				10212200, 8917509	Standard	NM_006421		Approved	DKFZP434L057, BIG1, ARFGEP1, p200	uc003xxo.2	Q9Y6D6	OTTHUMG00000164626	ENST00000262215.3:c.1967C>G	8.37:g.68178397G>C	ENSP00000262215:p.Pro656Arg					ARFGEF1_ENST00000520381.1_Missense_Mutation_p.P110R	p.P656R	NM_006421.4	NP_006412.2	Q9Y6D6	BIG1_HUMAN	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)		14	2356	-	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	656					Q9NV46|Q9UFV2|Q9UNL0	Missense_Mutation	SNP	ENST00000262215.3	37	c.1967C>G	CCDS6199.1	.	.	.	.	.	.	.	.	.	.	G	14.32	2.501326	0.44455	.	.	ENSG00000066777	ENST00000520381;ENST00000262215	T;T	0.20200	2.96;2.09	5.83	5.83	0.93111	Armadillo-type fold (1);	0.106577	0.64402	D	0.000003	T	0.16981	0.0408	N	0.20766	0.605	0.80722	D	1	B;B	0.25850	0.136;0.0	B;B	0.26094	0.066;0.002	T	0.08953	-1.0697	10	0.18710	T	0.47	.	20.1099	0.97909	0.0:0.0:1.0:0.0	.	656;110	Q9Y6D6;E5RIF2	BIG1_HUMAN;.	R	110;656	ENSP00000428429:P110R;ENSP00000262215:P656R	ENSP00000262215:P656R	P	-	2	0	ARFGEF1	68340951	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.771000	0.98977	2.753000	0.94483	0.585000	0.79938	CCT		0.373	ARFGEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379441.4	NM_006421		9	42	0	0	0	0.006214	0	9	42					C	68178397	G	C	68178397	3	2	150	1	0	0	0	0	1	0	0	0	852	1000	35	5	3686	5	ARFGEF1	8	68178397	Missense_Mutation	SNP	G	TCGA-G9-6333-01A-12D-1961-08		68178397	78185625	19	7374											
FAM135B	51059	broad.mit.edu	37	chr8	139180230	139180230	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ggcactctgcaggcagcgggGgcatgctagtgaggtactcc	7	7	16	11	1	1	1	0	1	1	0	2	1	2	1	1	5	4	6	1	5	2	2			TCGA-G9-6333-01A-12D-1961-08	TCGA-G9-6333-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ec7131a-d645-47a5-baa3-10b19f243846	62d82fd8-e94f-4dae-a171-a8eab417bc41	g.chr8:139180230G>A	ENST00000395297.1	-	12	1336	c.1166C>T	c.(1165-1167)cCc>cTc	p.P389L		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	389										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			AGGCAGCGGGGGCATGCTAGT	0.602										HNSCC(54;0.14)																												ENST00000395297.1																			0				NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238						c.(1165-1167)cCc>cTc		family with sequence similarity 135, member B							112	120	117					8																	139180230		2108	4227	6335	SO:0001583	missense	51059							g.chr8:139180230G>A	AB196635	CCDS6375.2	8q24.23	2008-11-05			ENSG00000147724	ENSG00000147724			28029	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_015912		Approved	C8ORFK32	uc003yuy.3	Q49AJ0	OTTHUMG00000149864	ENST00000395297.1:c.1166C>T	8.37:g.139180230G>A	ENSP00000378710:p.Pro389Leu	HNSCC(54;0.14)					p.P389L	NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0805)		12	1336	-	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		389					B5MDB3|O95879|Q2WGJ7|Q3KP46	Missense_Mutation	SNP	ENST00000395297.1	37	c.1166C>T	CCDS6375.2	.	.	.	.	.	.	.	.	.	.	G	24.5	4.543226	0.86022	.	.	ENSG00000147724	ENST00000395297	D	0.93547	-3.24	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	D	0.96978	0.9013	M	0.83118	2.625	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.97157	0.9835	10	0.87932	D	0	-22.3234	18.6786	0.91539	0.0:0.0:1.0:0.0	.	389	Q49AJ0	F135B_HUMAN	L	389	ENSP00000378710:P389L	ENSP00000276737:P389L	P	-	2	0	FAM135B	139249412	1.000000	0.71417	1.000000	0.80357	0.478000	0.33099	8.684000	0.91242	2.824000	0.97209	0.655000	0.94253	CCC		0.602	FAM135B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313590.3	NM_015912		27	111	0	0	0	0.005443	0	27	111					A	139180230	G	A	139180230	3	1	150	1	0	0	0	0	1	0	0	0	5449	1232	43	3	3090	3	FAM135B	8	139180230	Missense_Mutation	SNP	G	TCGA-G9-6333-01A-12D-1961-08	71001833	139180230	7183792	20	7375											
COL22A1	169044	broad.mit.edu	37	chr8	139890294	139890294	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccgtgatgtagcggagcgcGtctcccgtgttggtgttgcc	3	11	16	11	5	1	1	0	1	1	0	2	2	1	2	3	2	3	3	3	2	1	3	rs371320801		TCGA-G9-6333-01A-12D-1961-08	TCGA-G9-6333-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ec7131a-d645-47a5-baa3-10b19f243846	62d82fd8-e94f-4dae-a171-a8eab417bc41	g.chr8:139890294G>A	ENST00000303045.6	-	3	803	c.357C>T	c.(355-357)gaC>gaT	p.D119D	COL22A1_ENST00000435777.1_Silent_p.D119D	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	119	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			AGCGGAGCGCGTCTCCCGTGT	0.706										HNSCC(7;0.00092)																												ENST00000303045.6																			0				breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211						c.(355-357)gaC>gaT		collagen, type XXII, alpha 1		G		0,4364		0,0,2182	20	22	21		357	-1.4	1	8		21	1,8505		0,1,4252	no	coding-synonymous	COL22A1	NM_152888.1		0,1,6434	AA,AG,GG		0.0118,0.0,0.0078		119/1627	139890294	1,12869	2182	4253	6435	SO:0001819	synonymous_variant	169044				cell adhesion	collagen|cytoplasm	structural molecule activity	g.chr8:139890294G>A	AF406780	CCDS6376.1	8q24.3	2013-01-16			ENSG00000169436	ENSG00000169436		"Collagens"	22989	protein-coding gene	gene with protein product		610026					Standard	NM_152888		Approved		uc003yvd.3	Q8NFW1	OTTHUMG00000150035	ENST00000303045.6:c.357C>T	8.37:g.139890294G>A		HNSCC(7;0.00092)				COL22A1_ENST00000435777.1_Silent_p.D119D	p.D119D	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0517)		3	803	-	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		119			VWFA.		B7ZMH0|C9K0G4|Q8IVT9	Silent	SNP	ENST00000303045.6	37	c.357C>T	CCDS6376.1																																																																																				0.706	COL22A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000315905.2	XM_291257		4	17	0	0	0	0.009096	0	4	17					A	139890294	G	A	139890294	2	1	150	1	0	0	0	0	0	0	0	1	3681	1136	40	1		1	COL22A1	8	139890294	Silent	SNP	G	TCGA-G9-6333-01A-12D-1961-08	710064	139890294	6473728	21	7376											
CNTLN	54875	broad.mit.edu	37	chr9	17273768	17273768	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aattgaagcaaggaaagaagTtgaagtatcacagagtaaat	20	8	10	3	0	1	4	1	2	0	2	1	5	1	5	0	1	1	4	0	1	9	4			TCGA-G9-6333-01A-12D-1961-08	TCGA-G9-6333-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ec7131a-d645-47a5-baa3-10b19f243846	62d82fd8-e94f-4dae-a171-a8eab417bc41	g.chr9:17273768T>C	ENST00000380647.3	+	6	971	c.887T>C	c.(886-888)gTt>gCt	p.V296A	CNTLN_ENST00000262360.5_Missense_Mutation_p.V296A|CNTLN_ENST00000425824.1_Missense_Mutation_p.V296A|CNTLN_ENST00000380641.4_Missense_Mutation_p.V296A			Q9NXG0	CNTLN_HUMAN	centlein, centrosomal protein	296					centriole-centriole cohesion (GO:0010457)|protein localization to organelle (GO:0033365)	centriole (GO:0005814)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	phosphorelay sensor kinase activity (GO:0000155)|protein binding, bridging (GO:0030674)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			breast(6)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53				GBM - Glioblastoma multiforme(50;6.14e-10)		AGGAAAGAAGTTGAAGTATCA	0.308																																						ENST00000380647.3																			0				breast(6)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53						c.(886-888)gTt>gCt		centlein, centrosomal protein							97	98	98					9																	17273768		1821	4073	5894	SO:0001583	missense	54875					centriole|membrane	two-component sensor activity	g.chr9:17273768T>C	AK000283	CCDS43789.1, CCDS47953.1	9p22.2-p22.1	2008-11-11	2008-02-08	2008-02-08	ENSG00000044459	ENSG00000044459			23432	protein-coding gene	gene with protein product		611870	"chromosome 9 open reading frame 101", "chromosome 9 open reading frame 39"	C9orf101, C9orf39		18086554	Standard	XM_005251492		Approved	FLJ20276, bA340N12.1, OTTHUMG00000019597	uc003zmy.3	Q9NXG0	OTTHUMG00000019599	ENST00000380647.3:c.887T>C	9.37:g.17273768T>C	ENSP00000370021:p.Val296Ala					CNTLN_ENST00000380641.4_Missense_Mutation_p.V296A|CNTLN_ENST00000425824.1_Missense_Mutation_p.V296A|CNTLN_ENST00000262360.5_Missense_Mutation_p.V296A	p.V296A			Q9NXG0	CNTLN_HUMAN		GBM - Glioblastoma multiforme(50;6.14e-10)	6	971	+			296					A5Z2X6|Q5VYJ0|Q8N1G9|Q9HAJ5	Missense_Mutation	SNP	ENST00000380647.3	37	c.887T>C	CCDS43789.1	.	.	.	.	.	.	.	.	.	.	T	13.21	2.169822	0.38315	.	.	ENSG00000044459	ENST00000380647;ENST00000425824;ENST00000262360;ENST00000380641	T;T;T;T	0.10763	2.84;2.84;3.35;2.84	4.48	4.48	0.54585	.	.	.	.	.	T	0.06781	0.0173	N	0.08118	0	0.23611	N	0.9973	B;B;B	0.18741	0.003;0.003;0.03	B;B;B	0.18561	0.006;0.006;0.022	T	0.31194	-0.9952	9	0.39692	T	0.17	.	12.3066	0.54906	0.0:0.0:0.0:1.0	.	296;296;296	C9J1F9;Q9NXG0-2;Q9NXG0-3	.;.;.	A	296	ENSP00000370021:V296A;ENSP00000392798:V296A;ENSP00000262360:V296A;ENSP00000370015:V296A	ENSP00000262360:V296A	V	+	2	0	CNTLN	17263768	1.000000	0.71417	1.000000	0.80357	0.832000	0.47134	4.348000	0.59379	1.788000	0.52465	0.254000	0.18369	GTT		0.308	CNTLN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051793.3	NM_017738		14	83	0	0	0	0.00245	0	14	83					C	17273768	T	C	17273768	3	2	150	1	0	0	0	0	1	0	0	0	3639	1725	60	4	909	4	CNTLN	9	17273768	Missense_Mutation	SNP	T	TCGA-G9-6333-01A-12D-1961-08		17273768	123939663	22	7377											
CTNNA3	29119	broad.mit.edu	37	chr10	67680276	67680276	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cccagcaggactctggattcGgatgatcttggttgaggcaa	9	10	13	9	1	2	2	0	2	2	0	3	5	2	5	1	5	1	3	1	5	1	3	rs202196166		TCGA-G9-6333-01A-12D-1961-08	TCGA-G9-6333-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ec7131a-d645-47a5-baa3-10b19f243846	62d82fd8-e94f-4dae-a171-a8eab417bc41	g.chr10:67680276G>A	ENST00000433211.2	-	18	2674	c.2500C>T	c.(2500-2502)Cga>Tga	p.R834*	CTNNA3_ENST00000373744.4_Nonsense_Mutation_p.R834*|CTNNA3_ENST00000373735.1_5'UTR	NM_013266.2	NP_037398.2			catenin (cadherin-associated protein), alpha 3									p.R834*(2)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	95						CTCTGGATTCGGATGATCTTG	0.463																																						ENST00000433211.1																			2	Substitution - Nonsense(2)	p.R834*(2)	endometrium(2)	breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	95						c.(2500-2502)Cga>Tga		catenin (cadherin-associated protein), alpha 3							94	90	91					10																	67680276		2203	4300	6503	SO:0001587	stop_gained	29119				cell-cell adhesion	actin cytoskeleton|cytoplasm|fascia adherens	cadherin binding|structural molecule activity	g.chr10:67680276G>A	AF091606	CCDS7269.1	10q21	2006-11-24			ENSG00000183230	ENSG00000183230			2511	protein-coding gene	gene with protein product		607667				12596047, 11590244	Standard	XM_005269717		Approved	VR22, MGC26194	uc001jmw.2	Q9UI47	OTTHUMG00000018334	ENST00000433211.2:c.2500C>T	10.37:g.67680276G>A	ENSP00000389714:p.Arg834*					CTNNA3_ENST00000373735.1_Nonsense_Mutation_p.R173*|CTNNA3_ENST00000373744.4_Nonsense_Mutation_p.R834*	p.R834*	NM_013266.2	NP_037398.2	Q9UI47	CTNA3_HUMAN			18	2674	-			834						Nonsense_Mutation	SNP	ENST00000433211.2	37	c.2500C>T	CCDS7269.1	.	.	.	.	.	.	.	.	.	.	G	40	8.073432	0.98640	.	.	ENSG00000183230	ENST00000433211;ENST00000373744;ENST00000373735	.	.	.	5.88	3.89	0.44902	.	0.325448	0.22238	N	0.062738	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-3.2647	8.1478	0.31121	0.0:0.1272:0.5851:0.2877	.	.	.	.	X	834;834;173	.	ENSP00000362840:R173X	R	-	1	2	CTNNA3	67350282	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	6.916000	0.75776	1.511000	0.48818	-0.148000	0.13756	CGA		0.463	CTNNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048282.2	NM_013266		25	108	0	0	0	0.005443	0	25	108					A	67680276	G	A	67680276	4	1	150	1	0	0	0	0	0	1	0	0	4014	1124	39	2	191	2	CTNNA3	10	67680276	Nonsense_Mutation	SNP	G	TCGA-G9-6333-01A-12D-1961-08		67680276	67854471	23	7378											
PAPSS2	9060	broad.mit.edu	37	chr10	89505689	89505689	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tggcccccaaagcatggaagGtcctgacagattattacagg	12	8	11	10	0	0	2	0	1	0	1	1	3	1	3	3	4	2	1	3	4	4	2			TCGA-G9-6333-01A-12D-1961-08	TCGA-G9-6333-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ec7131a-d645-47a5-baa3-10b19f243846	62d82fd8-e94f-4dae-a171-a8eab417bc41	g.chr10:89505689G>A	ENST00000361175.4	+	12	2176	c.1807G>A	c.(1807-1809)Gtc>Atc	p.V603I	PAPSS2_ENST00000427144.2_Missense_Mutation_p.V607I|PAPSS2_ENST00000456849.1_Missense_Mutation_p.V608I	NM_004670.3	NP_004661.2	O95340	PAPS2_HUMAN	3'-phosphoadenosine 5'-phosphosulfate synthase 2	603					3'-phosphoadenosine 5'-phosphosulfate biosynthetic process (GO:0050428)|3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|blood coagulation (GO:0007596)|bone development (GO:0060348)|carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)|sulfate assimilation (GO:0000103)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	adenylylsulfate kinase activity (GO:0004020)|ATP binding (GO:0005524)|nucleotidyltransferase activity (GO:0016779)|sulfate adenylyltransferase (ATP) activity (GO:0004781)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|stomach(1)	20		Melanoma(5;0.019)|Colorectal(252;0.123)		UCEC - Uterine corpus endometrioid carcinoma (6;0.00164)|Colorectal(12;0.000323)|COAD - Colon adenocarcinoma(12;0.00124)		AGCATGGAAGGTCCTGACAGA	0.463																																						ENST00000361175.4																			0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|stomach(1)	20						c.(1807-1809)Gtc>Atc		3'-phosphoadenosine 5'-phosphosulfate synthase 2							80	88	85					10																	89505689		2203	4300	6503	SO:0001583	missense	9060				3'-phosphoadenosine 5'-phosphosulfate biosynthetic process|skeletal system development|sulfate assimilation|xenobiotic metabolic process	cytosol	adenylylsulfate kinase activity|ATP binding|protein binding|sulfate adenylyltransferase (ATP) activity	g.chr10:89505689G>A	AF091242	CCDS7385.1, CCDS44453.1	10q24	2008-02-07			ENSG00000198682	ENSG00000198682	2.7.7.4, 2.7.1.25		8604	protein-coding gene	gene with protein product		603005				9771708	Standard	NM_004670		Approved	ATPSK2	uc001kex.3	O95340	OTTHUMG00000018683	ENST00000361175.4:c.1807G>A	10.37:g.89505689G>A	ENSP00000354436:p.Val603Ile					PAPSS2_ENST00000456849.1_Missense_Mutation_p.V608I|PAPSS2_ENST00000427144.2_Missense_Mutation_p.V607I	p.V603I	NM_004670.3	NP_004661.2	O95340	PAPS2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (6;0.00164)|Colorectal(12;0.000323)|COAD - Colon adenocarcinoma(12;0.00124)	12	2176	+		Melanoma(5;0.019)|Colorectal(252;0.123)	603					Q9BZL2|Q9P0G6|Q9UHM1|Q9UKD3|Q9UP30	Missense_Mutation	SNP	ENST00000361175.4	37	c.1807G>A	CCDS7385.1	.	.	.	.	.	.	.	.	.	.	G	16.95	3.264004	0.59431	.	.	ENSG00000198682	ENST00000361175;ENST00000456849;ENST00000427144;ENST00000371981	T;T;T	0.30714	1.52;1.52;1.52	5.95	5.05	0.67936	Sulphate adenylyltransferase (2);Rossmann-like alpha/beta/alpha sandwich fold (1);	0.051225	0.85682	N	0.000000	T	0.24967	0.0606	N	0.19112	0.55	0.80722	D	1	B;P	0.45902	0.023;0.868	B;P	0.46339	0.153;0.513	T	0.02603	-1.1135	10	0.14252	T	0.57	-25.4065	14.9077	0.70733	0.0681:0.0:0.9319:0.0	.	603;608	O95340;O95340-2	PAPS2_HUMAN;.	I	603;608;607;607	ENSP00000354436:V603I;ENSP00000406157:V608I;ENSP00000397123:V607I	ENSP00000354436:V603I	V	+	1	0	PAPSS2	89495669	1.000000	0.71417	0.973000	0.42090	0.995000	0.86356	5.473000	0.66774	1.530000	0.49136	0.655000	0.94253	GTC		0.463	PAPSS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049229.1			7	100	0	0	0	0.006214	0	7	100					A	89505689	G	A	89505689	3	1	150	1	0	0	0	0	1	0	0	0	11435	1261	44	3	1872	3	PAPSS2	10	89505689	Missense_Mutation	SNP	G	TCGA-G9-6333-01A-12D-1961-08	21825413	89505689	46029058	24	7379											
NT5C2	22978	broad.mit.edu	37	chr10	104866420	104866420	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atagaaactaatctctccacAgtaagctcaaaaccaaggga	18	7	6	10	0	2	1	1	0	1	1	4	2	3	2	2	1	3	2	2	1	7	3	rs146517994		TCGA-G9-6333-01A-12D-1961-08	TCGA-G9-6333-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ec7131a-d645-47a5-baa3-10b19f243846	62d82fd8-e94f-4dae-a171-a8eab417bc41	g.chr10:104866420A>C	ENST00000404739.3	-	3	242	c.219T>G	c.(217-219)acT>acG	p.T73T	NT5C2_ENST00000343289.5_Silent_p.T73T|NT5C2_ENST00000369857.4_Intron|NT5C2_ENST00000423468.2_Silent_p.T44T			P49902	5NTC_HUMAN	5'-nucleotidase, cytosolic II	73					cell death (GO:0008219)|dephosphorylation (GO:0016311)|drug metabolic process (GO:0017144)|nucleobase-containing small molecule metabolic process (GO:0055086)|phosphorylation (GO:0016310)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide catabolic process (GO:0006195)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	5'-nucleotidase activity (GO:0008253)|metal ion binding (GO:0046872)|nucleoside phosphotransferase activity (GO:0050146)|nucleotide binding (GO:0000166)			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|urinary_tract(1)	16		all_hematologic(284;0.176)|Colorectal(252;0.178)		Epithelial(162;1.33e-08)|all cancers(201;1.04e-07)|BRCA - Breast invasive adenocarcinoma(275;0.159)	Adenosine triphosphate(DB00171)|Ribavirin(DB00811)	ATCTCTCCACAGTAAGCTCAA	0.388																																						ENST00000343289.5																			0				cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|urinary_tract(1)	16						c.(217-219)acT>acG		5'-nucleotidase, cytosolic II	Adenosine triphosphate(DB00171)|Ribavirin(DB00811)						149	150	150					10																	104866420		2203	4300	6503	SO:0001819	synonymous_variant	22978				purine base metabolic process|purine nucleotide catabolic process	cytosol	5'-nucleotidase activity|metal ion binding|nucleotide binding|protein binding	g.chr10:104866420A>C	D38524	CCDS7544.1	10q24.32	2014-03-03	2002-04-18	2002-04-19	ENSG00000076685	ENSG00000076685			8022	protein-coding gene	gene with protein product	"purine 5' nucleotidase"	600417	"5'-nucleotidase (purine), cytosolic type B"	NT5B		7999131, 24482476	Standard	NM_012229		Approved	PNT5, GMP, cN-II, SPG65	uc001kwq.3	P49902	OTTHUMG00000018981	ENST00000404739.3:c.219T>G	10.37:g.104866420A>C						NT5C2_ENST00000404739.3_Silent_p.T73T|NT5C2_ENST00000423468.2_Silent_p.T44T|NT5C2_ENST00000369857.4_Intron	p.T73T	NM_001134373.2|NM_012229.4	NP_001127845.1|NP_036361.1	P49902	5NTC_HUMAN		Epithelial(162;1.33e-08)|all cancers(201;1.04e-07)|BRCA - Breast invasive adenocarcinoma(275;0.159)	4	306	-		all_hematologic(284;0.176)|Colorectal(252;0.178)	73					B7Z382|D3DR91|Q5JUV5	Silent	SNP	ENST00000404739.3	37	c.219T>G	CCDS7544.1																																																																																				0.388	NT5C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050121.1	NM_012229		5	164	0	0	0	0.001168	0	5	164					C	104866420	A	C	104866420	2	2	150	1	0	0	0	0	0	0	0	1	10687	175	7	5		5	NT5C2	10	104866420	Silent	SNP	A	TCGA-G9-6333-01A-12D-1961-08	15360731	104866420	30668327	25	7380											
OR9G4	283189	broad.mit.edu	37	chr11	56510819	56510819	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggagccagcaacaagcccagTacagagggcggtggacatgg	12	3	16	10	1	0	1	0	0	0	1	0	3	0	3	2	5	5	2	2	5	3	1			TCGA-G9-6333-01A-12D-1961-08	TCGA-G9-6333-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ec7131a-d645-47a5-baa3-10b19f243846	bf76247b-356d-41c3-b5bf-5e9859046a1a	g.chr11:56510819T>G	ENST00000302957.3	-	1	468	c.469A>C	c.(469-471)Act>Cct	p.T157P		NM_001005284.1	NP_001005284.1	Q8NGQ1	OR9G4_HUMAN	olfactory receptor, family 9, subfamily G, member 4	157						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	34						ACAAGCCCAGTACAGAGGGCG	0.463																																						ENST00000302957.3																			0				NS(1)|autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	34						c.(469-471)Act>Cct		olfactory receptor, family 9, subfamily G, member 4							94	98	97					11																	56510819		2201	4296	6497	SO:0001583	missense	283189				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56510819T>G	BK004400	CCDS31537.1	11q11	2012-08-09			ENSG00000172457	ENSG00000172457		"GPCR / Class A : Olfactory receptors"	15322	protein-coding gene	gene with protein product							Standard	NM_001005284		Approved		uc010rjo.2	Q8NGQ1	OTTHUMG00000166932	ENST00000302957.3:c.469A>C	11.37:g.56510819T>G	ENSP00000307515:p.Thr157Pro						p.T157P	NM_001005284.1	NP_001005284.1	Q8NGQ1	OR9G4_HUMAN			1	468	-			157					Q6IF62|Q96RA9	Missense_Mutation	SNP	ENST00000302957.3	37	c.469A>C	CCDS31537.1	.	.	.	.	.	.	.	.	.	.	T	12.10	1.835132	0.32421	.	.	ENSG00000172457	ENST00000302957	T	0.37915	1.17	5.07	-0.207	0.13189	GPCR, rhodopsin-like superfamily (1);	1.013840	0.07926	N	0.976716	T	0.34890	0.0913	M	0.62209	1.925	0.09310	N	1	P	0.50819	0.939	P	0.46629	0.522	T	0.24297	-1.0164	10	0.40728	T	0.16	-3.7997	1.6291	0.02729	0.1325:0.2954:0.1368:0.4353	.	157	Q8NGQ1	OR9G4_HUMAN	P	157	ENSP00000307515:T157P	ENSP00000307515:T157P	T	-	1	0	OR9G4	56267395	0.000000	0.05858	0.002000	0.10522	0.639000	0.38242	-0.638000	0.05452	0.046000	0.15833	-0.304000	0.09214	ACT		0.463	OR9G4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391945.1	NM_001005284		7	147	0	0	0	0.001984	0	7	147					G	56510819	T	G	56510819	3	3	150	1	0	0	0	0	1	0	0	0	11251	1638	57	5	517	5	OR9G4	11	56510819	Missense_Mutation	SNP	T	TCGA-G9-6333-01A-12D-1961-08		56510819	78495697	26	7381											
MAGEL2	54551	broad.mit.edu	37	chr15	23890498	23890498	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	aaaggcattcagagaggcagGctgaaactgggaggtagctg	13	6	16	6	0	1	2	1	1	0	1	1	4	1	3	0	5	2	5	0	5	3	2			TCGA-G9-6333-01A-12D-1961-08	TCGA-G9-6333-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ec7131a-d645-47a5-baa3-10b19f243846	62d82fd8-e94f-4dae-a171-a8eab417bc41	g.chr15:23890498G>A	ENST00000532292.1	-	1	677	c.583C>T	c.(583-585)Cct>Tct	p.P195S		NM_019066.4	NP_061939.3	Q9UJ55	MAGL2_HUMAN	MAGE-like 2	78					Arp2/3 complex-mediated actin nucleation (GO:0034314)|protein K63-linked ubiquitination (GO:0070534)|retrograde transport, endosome to Golgi (GO:0042147)	endosome (GO:0005768)	ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;1.84e-06)|Epithelial(43;1.2e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)		AGAGAGGCAGGCTGAAACTGG	0.582																																						ENST00000532292.1																			0				breast(1)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7						c.(583-585)Cct>Tct		MAGE-like 2							68	74	72					15																	23890498		2023	4192	6215	SO:0001583	missense	54551							g.chr15:23890498G>A	AJ243531	CCDS73700.1	15q11-q12	2008-07-18				ENSG00000254585			6814	protein-coding gene	gene with protein product		605283		NDNL1		10556298	Standard	NM_019066		Approved	nM15	uc001ywj.4	Q9UJ55		ENST00000532292.1:c.583C>T	15.37:g.23890498G>A	ENSP00000433433:p.Pro195Ser						p.P195S	NM_019066.4	NP_061939.3				all cancers(64;1.84e-06)|Epithelial(43;1.2e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)	1	677	-		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)							Missense_Mutation	SNP	ENST00000532292.1	37	c.583C>T																																																																																					0.582	MAGEL2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000395182.2	NM_019066		8	89	0	0	0	0.004482	0	8	89					A	23890498	G	A	23890498	3	1	150	1	0	0	0	0	1	0	0	0	9189	1203	42	3	1361	3	MAGEL2	15	23890498	Missense_Mutation	SNP	G	TCGA-G9-6333-01A-12D-1961-08		23890498	78640894	27	7382											
KIAA1370	56204	broad.mit.edu	37	chr15	52901525	52901525	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccttatttttcttcaacaaaTttttgtcttcatatgaactc	10	20	2	9	0	4	1	2	1	2	0	5	1	4	1	1	0	2	0	1	0	5	8			TCGA-G9-6333-01A-12D-1961-08	TCGA-G9-6333-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ec7131a-d645-47a5-baa3-10b19f243846	62d82fd8-e94f-4dae-a171-a8eab417bc41	g.chr15:52901525T>G	ENST00000261844.7	-	6	1738	c.1586A>C	c.(1585-1587)aAt>aCt	p.N529T	FAM214A_ENST00000546305.2_Missense_Mutation_p.N536T	NM_019600.2	NP_062546.2	Q32MH5	F214A_HUMAN	family with sequence similarity 214, member A	529																	CTTCAACAAATTTTTGTCTTC	0.383																																						ENST00000261844.7																			0											c.(1585-1587)aAt>aCt		family with sequence similarity 214, member A							77	74	75					15																	52901525		1835	4100	5935	SO:0001583	missense	56204							g.chr15:52901525T>G	AB037791	CCDS45263.1, CCDS66773.1	15q21.2-q21.3	2011-12-01	2011-12-01	2011-12-01	ENSG00000047346	ENSG00000047346			25609	protein-coding gene	gene with protein product			"KIAA1370"	KIAA1370		10718198	Standard	XM_005254547		Approved	FLJ10980	uc002acg.4	Q32MH5		ENST00000261844.7:c.1586A>C	15.37:g.52901525T>G	ENSP00000261844:p.Asn529Thr					FAM214A_ENST00000546305.2_Missense_Mutation_p.N536T	p.N529T	NM_019600.2	NP_062546.2	Q32MH5	K1370_HUMAN			6	1738	-			529					A8KA52|B4DEP5|B4DF40|F5H8G0|Q32MH6|Q4G0R7|Q5XJ16|Q6PDA3|Q9NV24|Q9P2H7	Missense_Mutation	SNP	ENST00000261844.7	37	c.1586A>C	CCDS45263.1	.	.	.	.	.	.	.	.	.	.	T	6.094	0.385595	0.11524	.	.	ENSG00000047346	ENST00000261844;ENST00000399202;ENST00000534964;ENST00000546305	T;T	0.28895	1.59;1.59	6.17	3.7	0.42460	.	0.513373	0.23354	N	0.049095	T	0.21186	0.0510	L	0.29908	0.895	0.09310	N	0.999999	B;B	0.12630	0.006;0.003	B;B	0.12156	0.007;0.003	T	0.16335	-1.0406	10	0.09843	T	0.71	.	14.2781	0.66194	0.0:0.0:0.252:0.748	.	536;529	F5H8G0;Q32MH5	.;K1370_HUMAN	T	529;529;528;536	ENSP00000261844:N529T;ENSP00000443598:N536T	ENSP00000261844:N529T	N	-	2	0	KIAA1370	50688817	0.986000	0.35501	0.305000	0.25099	0.996000	0.88848	1.771000	0.38542	1.134000	0.42165	0.533000	0.62120	AAT		0.383	FAM214A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419914.1	NM_019600		31	85	0	0	0	0.007291	0	31	85					G	52901525	T	G	52901525	3	3	150	1	0	0	0	0	1	0	0	0	8226	1493	52	5	1676	5	KIAA1370	15	52901525	Missense_Mutation	SNP	T	TCGA-G9-6333-01A-12D-1961-08	29011027	52901525	49629867	28	7383											
MCTP2	55784	broad.mit.edu	37	chr15	95013613	95013613	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tctctggcctgtttgattctGgcagcagccaccatcatttt	6	15	8	12	0	3	1	1	1	2	0	4	1	3	1	3	2	2	3	3	2	0	4			TCGA-G9-6333-01A-12D-1961-08	TCGA-G9-6333-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ec7131a-d645-47a5-baa3-10b19f243846	62d82fd8-e94f-4dae-a171-a8eab417bc41	g.chr15:95013613G>A	ENST00000357742.4	+	20	2412	c.2412G>A	c.(2410-2412)ctG>ctA	p.L804L	MCTP2_ENST00000451018.3_Silent_p.L749L	NM_018349.3	NP_060819.3	Q6DN12	MCTP2_HUMAN	multiple C2 domains, transmembrane 2	804					calcium-mediated signaling (GO:0019722)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|liver(1)|lung(12)|ovary(1)|pancreas(1)|skin(9)|stomach(2)	49	Lung NSC(78;0.0821)|all_lung(78;0.148)		BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593)			GTTTGATTCTGGCAGCAGCCA	0.418																																						ENST00000357742.4																			0				autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|liver(1)|lung(12)|ovary(1)|pancreas(1)|skin(9)|stomach(2)	49						c.(2410-2412)ctG>ctA		multiple C2 domains, transmembrane 2							194	185	188					15																	95013613		2197	4298	6495	SO:0001819	synonymous_variant	55784				calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding	g.chr15:95013613G>A	AK002037	CCDS32338.1, CCDS53975.1, CCDS53976.1	15q26.2	2006-02-08				ENSG00000140563			25636	protein-coding gene	gene with protein product						15528213	Standard	NM_018349		Approved	FLJ11175, FLJ33303	uc002btj.3	Q6DN12		ENST00000357742.4:c.2412G>A	15.37:g.95013613G>A						MCTP2_ENST00000451018.3_Silent_p.L749L	p.L804L	NM_018349.3	NP_060819.3	Q6DN12	MCTP2_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593)		20	2412	+	Lung NSC(78;0.0821)|all_lung(78;0.148)		804					A2RRC2|C6G483|C6G484|Q49AB0|Q8TAX2|Q9NUS2|Q9NUW7	Silent	SNP	ENST00000357742.4	37	c.2412G>A	CCDS32338.1																																																																																				0.418	MCTP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415060.3	NM_018349		4	171	0	0	0	0.001168	0	4	171					A	95013613	G	A	95013613	2	1	150	1	0	0	0	0	0	0	0	1	9401	1335	47	3		3	MCTP2	15	95013613	Silent	SNP	G	TCGA-G9-6333-01A-12D-1961-08	42112088	95013613	7517779	29	7384											
LUC7L	55692	broad.mit.edu	37	chr16	242931	242931	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agccctcaggctcacctcctGctcagacgctcctcccgttc	5	9	7	20	2	3	1	3	0	0	1	7	1	6	1	5	1	2	4	5	1	0	1			TCGA-G9-6333-01A-12D-1961-08	TCGA-G9-6333-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ec7131a-d645-47a5-baa3-10b19f243846	62d82fd8-e94f-4dae-a171-a8eab417bc41	g.chr16:242931G>C	ENST00000293872.8	-	7	881	c.771C>G	c.(769-771)agC>agG	p.S257R	LUC7L_ENST00000397783.1_Missense_Mutation_p.S257R|LUC7L_ENST00000337351.4_Missense_Mutation_p.S257R|LUC7L_ENST00000397780.1_Missense_Mutation_p.S204R	NM_201412.1	NP_958815.1	Q9NQ29	LUC7L_HUMAN	LUC7-like (S. cerevisiae)	257	Arg/Ser-rich.				mRNA splice site selection (GO:0006376)|negative regulation of striated muscle tissue development (GO:0045843)	U1 snRNP (GO:0005685)	identical protein binding (GO:0042802)|mRNA binding (GO:0003729)			NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1)	11		all_cancers(16;1.1e-06)|all_epithelial(16;2.71e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.0138)|all_lung(18;0.0306)				CTCACCTCCTGCTCAGACGCT	0.552																																						ENST00000337351.4																			0				NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1)	11						c.(769-771)agC>agG		LUC7-like (S. cerevisiae)							224	196	205					16																	242931		2203	4300	6503	SO:0001583	missense	55692						metal ion binding	g.chr16:242931G>C	AY005111	CCDS10401.1, CCDS32348.1	16p13.3	2010-01-25	2001-11-28		ENSG00000007392	ENSG00000007392			6723	protein-coding gene	gene with protein product		607782	"LUC7 (S. cerevisiae)-like"				Standard	NM_201412		Approved	LUC7B1, hLuc7B1, Luc7	uc002cgc.1	Q9NQ29	OTTHUMG00000060730	ENST00000293872.8:c.771C>G	16.37:g.242931G>C	ENSP00000293872:p.Ser257Arg					LUC7L_ENST00000397780.1_Missense_Mutation_p.S204R|LUC7L_ENST00000397783.1_Missense_Mutation_p.S257R|LUC7L_ENST00000293872.8_Missense_Mutation_p.S257R	p.S257R	NM_018032.3	NP_060502.1	Q9NQ29	LUC7L_HUMAN			7	894	-		all_cancers(16;1.1e-06)|all_epithelial(16;2.71e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.0138)|all_lung(18;0.0306)	257			Arg/Ser-rich.		B8ZZ13|Q96S32|Q9NPH4	Missense_Mutation	SNP	ENST00000293872.8	37	c.771C>G	CCDS32348.1	.	.	.	.	.	.	.	.	.	.	G	4.090	0.014667	0.07959	.	.	ENSG00000007392	ENST00000337351;ENST00000293872;ENST00000397783;ENST00000429378;ENST00000397780;ENST00000430864	T;T;T;T	0.45668	0.89;0.89;0.97;3.62	5.13	0.907	0.19321	.	0.308092	0.41001	D	0.000969	T	0.15782	0.0380	N	0.03608	-0.345	0.24468	N	0.994406	B	0.02656	0.0	B	0.01281	0.0	T	0.29027	-1.0025	10	0.08599	T	0.76	.	9.7812	0.40649	0.3051:0.0:0.6949:0.0	.	257	Q9NQ29	LUC7L_HUMAN	R	257;257;257;56;204;171	ENSP00000337507:S257R;ENSP00000380885:S257R;ENSP00000413033:S56R;ENSP00000380882:S204R	ENSP00000293872:S257R	S	-	3	2	LUC7L	182932	0.998000	0.40836	1.000000	0.80357	0.962000	0.63368	0.204000	0.17335	0.277000	0.22141	0.462000	0.41574	AGC		0.552	LUC7L-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000134239.1			16	229	0	0	0	0.00499	0	16	229					C	242931	G	C	242931	3	2	150	1	0	0	0	0	1	0	0	0	9082	1310	46	5	364	5	LUC7L	16	242931	Missense_Mutation	SNP	G	TCGA-G9-6333-01A-12D-1961-08		242931	90111822	30	7385											
C16orf89	146556	broad.mit.edu	37	chr16	5094359	5094359	+	3'UTR	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	accgtccgtctcagcggctgCttggtggtggcggtgtggat	3	11	17	10	4	1	0	1	0	1	0	3	1	2	1	2	6	2	2	2	6	0	1			TCGA-G9-6333-01A-12D-1961-08	TCGA-G9-6333-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ec7131a-d645-47a5-baa3-10b19f243846	62d82fd8-e94f-4dae-a171-a8eab417bc41	g.chr16:5094359C>T	ENST00000315997.5	-	0	1635				C16orf89_ENST00000350219.4_3'UTR|ALG1_ENST00000588623.1_Intron|RP11-165E7.1_ENST00000588778.1_RNA|C16orf89_ENST00000422873.1_Missense_Mutation_p.S397N|C16orf89_ENST00000472572.3_Missense_Mutation_p.S359N|C16orf89_ENST00000474471.3_3'UTR	NM_152459.4	NP_689672.4	Q6UX73	CP089_HUMAN	chromosome 16 open reading frame 89							cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	12						TCAGCGGCTGCTTGGTGGTGG	0.602																																						ENST00000422873.1																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	12						c.(1189-1191)aGc>aAc		chromosome 16 open reading frame 89							61	71	68					16																	5094359		2089	4209	6298	SO:0001624	3_prime_UTR_variant	146556					extracellular region		g.chr16:5094359C>T		CCDS42116.1, CCDS45404.1, CCDS42116.2, CCDS45404.2	16p13.3	2011-12-12			ENSG00000153446	ENSG00000153446			28687	protein-coding gene	gene with protein product						12975309, 20578903	Standard	NM_001098514		Approved	MGC45438	uc010bud.3	Q6UX73	OTTHUMG00000159314	ENST00000315997.5:c.*225G>A	16.37:g.5094359C>T						C16orf89_ENST00000474471.3_3'UTR|C16orf89_ENST00000472572.3_Missense_Mutation_p.S359N|ALG1_ENST00000588623.1_Intron|C16orf89_ENST00000350219.4_3'UTR|C16orf89_ENST00000315997.5_3'UTR	p.S397N	NM_001098514.2	NP_001091984.2	Q6UX73	CP089_HUMAN			8	1277	-			0					B4DUM5|Q8N2I3|Q8N4T1	Missense_Mutation	SNP	ENST00000315997.5	37	c.1190G>A	CCDS42116.2	.	.	.	.	.	.	.	.	.	.	C	8.512	0.866771	0.17250	.	.	ENSG00000153446	ENST00000472572;ENST00000422873	T;T	0.34472	1.46;1.36	4.0	-1.39	0.08997	.	.	.	.	.	T	0.12902	0.0313	N	0.04508	-0.205	0.09310	N	1	B	0.11235	0.004	B	0.10450	0.005	T	0.33727	-0.9857	9	0.02654	T	1	.	8.0503	0.30575	0.0:0.6293:0.0:0.3707	.	397	G3V0F0	.	N	359;397	ENSP00000420566:S359N;ENSP00000390402:S397N	ENSP00000390402:S397N	S	-	2	0	C16orf89	5034360	0.000000	0.05858	0.000000	0.03702	0.129000	0.20672	-1.935000	0.01550	-0.484000	0.06763	0.448000	0.29417	AGC		0.602	C16orf89-001	KNOWN	upstream_ATG|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000354524.1	NM_152459		9	111	0	0	0	0.004482	0	9	111					T	5094359	C	T	5094359	1	4	150	0	1	0	0	0	0	0	0	0	1842	797	28	3		3	C16orf89	16	5094359	3'UTR	SNP	C	TCGA-G9-6333-01A-12D-1961-08	4851428	5094359	85260394	31	7386											
ZNF594	84622	broad.mit.edu	37	chr17	5085657	5085657	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gatctgagctacccctaaaaGatttcccacatttgttgcat	11	13	6	11	0	1	2	0	1	1	1	2	3	2	2	3	0	3	3	3	0	3	5			TCGA-G9-6333-01A-12D-1961-08	TCGA-G9-6333-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ec7131a-d645-47a5-baa3-10b19f243846	62d82fd8-e94f-4dae-a171-a8eab417bc41	g.chr17:5085657G>A	ENST00000399604.4	-	1	2035	c.1895C>T	c.(1894-1896)tCt>tTt	p.S632F	ZNF594_ENST00000575779.1_Missense_Mutation_p.S632F			Q96JF6	ZN594_HUMAN	zinc finger protein 594	632					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						ACCCCTAAAAGATTTCCCACA	0.398																																						ENST00000399604.4																			0				NS(1)|breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						c.(1894-1896)tCt>tTt		zinc finger protein 594							129	137	134					17																	5085657		2109	4270	6379	SO:0001583	missense	84622				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr17:5085657G>A	AB058774	CCDS42241.1	17p13	2013-01-08			ENSG00000180626	ENSG00000180626		"Zinc fingers, C2H2-type"	29392	protein-coding gene	gene with protein product						11347906	Standard	NM_032530		Approved	KIAA1871	uc010cla.1	Q96JF6	OTTHUMG00000132059	ENST00000399604.4:c.1895C>T	17.37:g.5085657G>A	ENSP00000382513:p.Ser632Phe					ZNF594_ENST00000575779.1_Missense_Mutation_p.S632F	p.S632F			Q96JF6	ZN594_HUMAN			1	2035	-			632					Q6RFS0	Missense_Mutation	SNP	ENST00000399604.4	37	c.1895C>T	CCDS42241.1	.	.	.	.	.	.	.	.	.	.	g	10.14	1.268606	0.23136	.	.	ENSG00000180626	ENST00000399604;ENST00000389222	T	0.36520	1.25	1.41	1.41	0.22369	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.48572	0.1507	M	0.64630	1.985	0.09310	N	1	D	0.71674	0.998	D	0.63597	0.916	T	0.24225	-1.0166	9	0.62326	D	0.03	.	5.5765	0.17227	0.0:0.3527:0.6473:0.0	.	632	Q96JF6	ZN594_HUMAN	F	632;227	ENSP00000382513:S632F	ENSP00000373874:S227F	S	-	2	0	ZNF594	5026381	0.000000	0.05858	0.001000	0.08648	0.008000	0.06430	-0.178000	0.09782	0.776000	0.33473	0.393000	0.25936	TCT		0.398	ZNF594-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438996.1	XM_290737		11	174	0	0	0	0.010729	0	11	174					A	5085657	G	A	5085657	3	1	150	1	0	0	0	0	1	0	0	0	18021	942	33	3	532	3	ZNF594	17	5085657	Missense_Mutation	SNP	G	TCGA-G9-6333-01A-12D-1961-08		5085657	76109553	32	7387											
MYH10	4628	broad.mit.edu	37	chr17	8409745	8409745	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcaggtcggtcgtctcccCgtcgagttttcttttggcct	2	15	11	13	4	2	0	0	0	2	0	6	1	2	0	3	3	1	2	3	3	0	4			TCGA-G9-6333-01A-12D-1961-08	TCGA-G9-6333-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ec7131a-d645-47a5-baa3-10b19f243846	62d82fd8-e94f-4dae-a171-a8eab417bc41	g.chr17:8409745C>T	ENST00000269243.4	-	25	3322	c.3184G>A	c.(3184-3186)Ggg>Agg	p.G1062R	MYH10_ENST00000360416.3_Missense_Mutation_p.G1093R|MYH10_ENST00000396239.1_Missense_Mutation_p.G1083R|MYH10_ENST00000379980.4_Missense_Mutation_p.G1078R	NM_005964.3	NP_005955.3	P35580	MYH10_HUMAN	myosin, heavy chain 10, non-muscle	1062					actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cardiac myofibril assembly (GO:0055003)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|cerebellar Purkinje cell layer development (GO:0021680)|exocytosis (GO:0006887)|fourth ventricle development (GO:0021592)|in utero embryonic development (GO:0001701)|lateral ventricle development (GO:0021670)|mitotic cytokinesis (GO:0000281)|neuromuscular process controlling balance (GO:0050885)|neuron migration (GO:0001764)|nuclear migration (GO:0007097)|plasma membrane repair (GO:0001778)|regulation of cell shape (GO:0008360)|retina development in camera-type eye (GO:0060041)|substrate-dependent cell migration, cell extension (GO:0006930)|third ventricle development (GO:0021678)|ventricular cardiac muscle cell development (GO:0055015)	actomyosin (GO:0042641)|axon (GO:0030424)|cell cortex (GO:0005938)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|midbody (GO:0030496)|myosin complex (GO:0016459)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle (GO:0005819)|stress fiber (GO:0001725)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1)	52						GTCGTCTCCCCGTCGAGTTTT	0.527																																						ENST00000360416.3																			0				breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1)	52						c.(3277-3279)Ggg>Agg		myosin, heavy chain 10, non-muscle							142	122	129					17																	8409745		2203	4300	6503	SO:0001583	missense	4628				actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape	cell cortex|cleavage furrow|midbody|myosin complex|stress fiber	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr17:8409745C>T	M69181	CCDS11144.1, CCDS58515.1, CCDS73984.1	17p13	2011-09-27	2006-09-29		ENSG00000133026	ENSG00000133026		"Myosins / Myosin superfamily : Class II"	7568	protein-coding gene	gene with protein product		160776	"myosin, heavy polypeptide 10, non-muscle"			1860190	Standard	NM_001256012		Approved	NMMHCB	uc002glm.4	P35580	OTTHUMG00000108195	ENST00000269243.4:c.3184G>A	17.37:g.8409745C>T	ENSP00000269243:p.Gly1062Arg					MYH10_ENST00000379980.4_Missense_Mutation_p.G1078R|MYH10_ENST00000269243.4_Missense_Mutation_p.G1062R|MYH10_ENST00000396239.1_Missense_Mutation_p.G1083R	p.G1093R	NM_001256012.1	NP_001242941.1	P35580	MYH10_HUMAN			27	3415	-			1062					B2RWP9|D3DTS1|F8VTL3|Q12989|Q149N3|Q149N4|Q16087|Q4LE45|Q6PK16|Q9BWG0	Missense_Mutation	SNP	ENST00000269243.4	37	c.3277G>A	CCDS11144.1	.	.	.	.	.	.	.	.	.	.	C	25.7	4.668570	0.88348	.	.	ENSG00000133026	ENST00000269243;ENST00000360416;ENST00000396239;ENST00000379980	D;D;D;D	0.93811	-3.29;-3.29;-3.29;-3.29	4.87	4.87	0.63330	.	0.106902	0.64402	D	0.000006	D	0.96485	0.8853	M	0.85777	2.775	0.54753	D	0.999988	P;P;P	0.49696	0.927;0.791;0.927	P;P;P	0.58210	0.689;0.835;0.689	D	0.97021	0.9743	10	0.87932	D	0	.	18.5613	0.91101	0.0:1.0:0.0:0.0	.	1071;1093;1062	B2RWP9;F8VTL3;P35580	.;.;MYH10_HUMAN	R	1062;1093;1083;1078	ENSP00000269243:G1062R;ENSP00000353590:G1093R;ENSP00000379539:G1083R;ENSP00000369315:G1078R	ENSP00000269243:G1062R	G	-	1	0	MYH10	8350470	0.997000	0.39634	0.227000	0.23927	0.563000	0.35712	5.867000	0.69597	2.672000	0.90937	0.563000	0.77884	GGG		0.527	MYH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000227001.2			24	69	0	0	0	0.004656	0	24	69					T	8409745	C	T	8409745	3	4	150	1	0	0	0	0	1	0	0	0	10030	652	23	2	2814	2	MYH10	17	8409745	Missense_Mutation	SNP	C	TCGA-G9-6333-01A-12D-1961-08	3324088	8409745	72785465	33	7388											
LASP1	3927	broad.mit.edu	37	chr17	37074903	37074903	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acagcgccgccgacgaggacGaggtctccttccaggacggg	8	4	15	14	6	1	0	0	0	1	0	3	5	2	2	4	4	1	0	4	4	0	1			TCGA-G9-6333-01A-12D-1961-08	TCGA-G9-6333-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ec7131a-d645-47a5-baa3-10b19f243846	62d82fd8-e94f-4dae-a171-a8eab417bc41	g.chr17:37074903G>T	ENST00000318008.6	+	7	989	c.658G>T	c.(658-660)Gag>Tag	p.E220*	RP1-56K13.3_ENST00000580121.1_RNA|LASP1_ENST00000433206.2_Nonsense_Mutation_p.E164*|LASP1_ENST00000435347.3_Nonsense_Mutation_p.E220*	NM_006148.2	NP_006139.1	Q14847	LASP1_HUMAN	LIM and SH3 protein 1	220	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.			E -> A (in Ref. 4; AAH12460). {ECO:0000305}.	ion transport (GO:0006811)|positive regulation of signal transduction (GO:0009967)	cortical actin cytoskeleton (GO:0030864)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)	ion transmembrane transporter activity (GO:0015075)|SH3/SH2 adaptor activity (GO:0005070)|zinc ion binding (GO:0008270)			breast(1)|large_intestine(2)|lung(4)|urinary_tract(2)	9						CGACGAGGACGAGGTCTCCTT	0.662			T	MLL	AML																																	ENST00000318008.6				Dom	yes		17	17q11-q21.3	3927	T	LIM and SH3 protein 1			L	MLL		AML		0				breast(1)|large_intestine(2)|lung(4)|urinary_tract(2)	9						c.(658-660)Gag>Tag		LIM and SH3 protein 1							117	102	107					17																	37074903		2203	4300	6503	SO:0001587	stop_gained	3927					cortical actin cytoskeleton	ion transmembrane transporter activity|SH3/SH2 adaptor activity|zinc ion binding	g.chr17:37074903G>T		CCDS11331.1, CCDS62164.1	17q11-q21.3	2008-07-18			ENSG00000002834	ENSG00000002834			6513	protein-coding gene	gene with protein product		602920				7490069	Standard	NM_006148		Approved	MLN50, Lasp-1	uc010cvq.3	Q14847	OTTHUMG00000133182	ENST00000318008.6:c.658G>T	17.37:g.37074903G>T	ENSP00000325240:p.Glu220*					LASP1_ENST00000435347.3_Nonsense_Mutation_p.E220*|LASP1_ENST00000433206.2_Nonsense_Mutation_p.E164*	p.E220*	NM_006148.2	NP_006139.1	Q14847	LASP1_HUMAN			7	989	+			220	E -> A (in Ref. 2; AAH12460).		SH3.		B4DGQ0|Q96ED2|Q96IG0	Nonsense_Mutation	SNP	ENST00000318008.6	37	c.658G>T	CCDS11331.1	.	.	.	.	.	.	.	.	.	.	G	38	7.066394	0.98040	.	.	ENSG00000002834	ENST00000318008;ENST00000433206;ENST00000435347	.	.	.	5.39	5.39	0.77823	.	0.847374	0.10729	N	0.640835	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	17.7153	0.88335	0.0:0.0:1.0:0.0	.	.	.	.	X	220;164;220	.	ENSP00000325240:E220X	E	+	1	0	LASP1	34328429	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	9.779000	0.99018	2.540000	0.85666	0.462000	0.41574	GAG		0.662	LASP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256890.3	NM_006148		5	135	1	0	0.00116845	0.001168	0.00274331	5	135					T	37074903	G	T	37074903	4	4	150	1	0	0	0	0	0	1	0	0	8637	1059	37	5	684	5	LASP1	17	37074903	Nonsense_Mutation	SNP	G	TCGA-G9-6333-01A-12D-1961-08	28665158	37074903	44120307	34	7389											
SPOP	8405	broad.mit.edu	37	chr17	47696424	47696424	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctctacggatgaatttcttGaatccccagtctttgccttg	7	16	7	11	1	3	2	0	2	3	0	5	3	4	3	3	1	2	0	3	1	3	5	rs193921065		TCGA-G9-6333-01A-12D-1961-08	TCGA-G9-6333-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ec7131a-d645-47a5-baa3-10b19f243846	62d82fd8-e94f-4dae-a171-a8eab417bc41	g.chr17:47696424G>T	ENST00000393328.2	-	6	764	c.399C>A	c.(397-399)ttC>ttA	p.F133L	SPOP_ENST00000503676.1_Missense_Mutation_p.F133L|SPOP_ENST00000504102.1_Missense_Mutation_p.F133L|SPOP_ENST00000347630.2_Missense_Mutation_p.F133L|SPOP_ENST00000513080.1_5'Flank|SPOP_ENST00000393331.3_Missense_Mutation_p.F133L	NM_003563.3	NP_003554.1	O43791	SPOP_HUMAN	speckle-type POZ protein	133	Important for binding substrate proteins.|MATH. {ECO:0000255|PROSITE- ProRule:PRU00129}.|Required for nuclear localization.				glucose homeostasis (GO:0042593)|positive regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902237)|positive regulation of type B pancreatic cell apoptotic process (GO:2000676)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	Cul3-RING ubiquitin ligase complex (GO:0031463)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	ubiquitin protein ligase binding (GO:0031625)	p.F133L(7)		endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						TGAATTTCTTGAATCCCCAGT	0.448										Prostate(2;0.17)																												ENST00000393331.3																			7	Substitution - Missense(7)	p.F133L(7)	prostate(7)	endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						c.(397-399)ttC>ttA		speckle-type POZ protein							118	120	119					17																	47696424		2203	4300	6503	SO:0001583	missense	8405				mRNA processing	nucleus	protein binding	g.chr17:47696424G>T	AJ000644	CCDS11551.1	17q21.33	2013-01-09			ENSG00000121067	ENSG00000121067		"BTB/POZ domain containing"	11254	protein-coding gene	gene with protein product		602650				9414087	Standard	NM_001007227		Approved	TEF2, BTBD32	uc002ipg.3	O43791	OTTHUMG00000161496	ENST00000393328.2:c.399C>A	17.37:g.47696424G>T	ENSP00000377001:p.Phe133Leu	Prostate(2;0.17)				SPOP_ENST00000504102.1_Missense_Mutation_p.F133L|SPOP_ENST00000503676.1_Missense_Mutation_p.F133L|SPOP_ENST00000393328.2_Missense_Mutation_p.F133L|SPOP_ENST00000347630.2_Missense_Mutation_p.F133L	p.F133L	NM_001007226.1|NM_001007227.1	NP_001007227.1|NP_001007228.1	O43791	SPOP_HUMAN			7	869	-			133			MATH.|Required for nuclear localization.		B2R6S3|D3DTW7|Q53HJ1	Missense_Mutation	SNP	ENST00000393328.2	37	c.399C>A	CCDS11551.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.981900	0.74474	.	.	ENSG00000121067	ENST00000393328;ENST00000393331;ENST00000347630;ENST00000504102;ENST00000503536;ENST00000503676;ENST00000513872;ENST00000509079;ENST00000505581;ENST00000507970;ENST00000514121	T;T;T;T;T;T;T;T;T	0.41758	0.99;0.99;0.99;0.99;0.99;0.99;0.99;0.99;0.99	5.41	4.33	0.51752	TRAF-type (1);TRAF-like (1);MATH (3);	0.000000	0.85682	D	0.000000	T	0.58722	0.2142	M	0.80847	2.515	0.80722	D	1	P	0.52692	0.955	P	0.55087	0.768	T	0.62732	-0.6792	10	0.44086	T	0.13	-9.6576	13.4952	0.61421	0.0813:0.0:0.9187:0.0	.	133	O43791	SPOP_HUMAN	L	133;133;133;133;17;133;86;133;133;133;133	ENSP00000377001:F133L;ENSP00000377004:F133L;ENSP00000240327:F133L;ENSP00000425905:F133L;ENSP00000420908:F133L;ENSP00000426986:F133L;ENSP00000420960:F133L;ENSP00000426262:F133L;ENSP00000424119:F133L	ENSP00000240327:F133L	F	-	3	2	SPOP	45051423	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.591000	0.36665	1.345000	0.45676	0.563000	0.77884	TTC		0.448	SPOP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365154.2	NM_003563		27	117	1	0	5.61819e-17	0.005443	1.37901e-16	27	117					T	47696424	G	T	47696424	3	4	150	1	0	0	0	0	1	0	0	0	15083	1281	45	5	749	5	SPOP	17	47696424	Missense_Mutation	SNP	G	TCGA-G9-6333-01A-12D-1961-08	10621521	47696424	33498786	35	7390											
USP36	57602	broad.mit.edu	37	chr17	76803039	76803039	+	Splice_Site	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcgagacccccacacacccAccttcttggcagaaagggcc	10	4	10	17	1	1	2	0	0	1	2	1	3	1	2	5	3	0	1	5	3	1	2			TCGA-G9-6333-01A-12D-1961-08	TCGA-G9-6333-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ec7131a-d645-47a5-baa3-10b19f243846	62d82fd8-e94f-4dae-a171-a8eab417bc41	g.chr17:76803039A>C	ENST00000542802.3	-	14	2529		c.e14+1		USP36_ENST00000312010.6_Splice_Site|USP36_ENST00000449938.2_Splice_Site|USP36_ENST00000588467.1_5'Flank			Q9P275	UBP36_HUMAN	ubiquitin specific peptidase 36						protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|ubiquitin-specific protease activity (GO:0004843)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	34			BRCA - Breast invasive adenocarcinoma(99;0.000842)|OV - Ovarian serous cystadenocarcinoma(97;0.151)			CCACACACCCACCTTCTTGGC	0.567																																						ENST00000312010.6																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	34						c.e14+1		ubiquitin specific peptidase 36							106	96	99					17																	76803039		2203	4300	6503	SO:0001630	splice_region_variant	57602				ubiquitin-dependent protein catabolic process	nucleolus	cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr17:76803039A>C	AB040886	CCDS32755.1	17q25.3	2008-02-05	2005-08-08			ENSG00000055483		"Ubiquitin-specific peptidases"	20062	protein-coding gene	gene with protein product		612543	"ubiquitin specific protease 36"			12838346	Standard	NM_025090		Approved	KIAA1453, FLJ12851	uc002jvz.1	Q9P275		ENST00000542802.3:c.2085+1T>G	17.37:g.76803039A>C						USP36_ENST00000449938.2_Splice_Site|USP36_ENST00000542802.2_Splice_Site		NM_025090.3	NP_079366.3	Q9P275	UBP36_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.000842)|OV - Ovarian serous cystadenocarcinoma(97;0.151)		14	2410	-								Q05C98|Q05DD0|Q6IQ38|Q8NDM8|Q9NVC8	Splice_Site	SNP	ENST00000542802.3	37		CCDS32755.1	.	.	.	.	.	.	.	.	.	.	A	24.3	4.521070	0.85495	.	.	ENSG00000055483	ENST00000312010;ENST00000449938;ENST00000542802	.	.	.	5.21	5.21	0.72293	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.3163	0.60409	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	USP36	74314634	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	8.248000	0.89832	1.974000	0.57490	0.533000	0.62120	.		0.567	USP36-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437472.3	NM_025090	Intron	8	90	0	0	0	0.006214	0	8	90					C	76803039	A	C	76803039	5	2	150	1	0	0	0	0	0	0	1	0	17064	173	6	5	1312	5	USP36	17	76803039	Splice_Site	SNP	A	TCGA-G9-6333-01A-12D-1961-08	29106615	76803039	4392171	36	7391											
SS18	6760	broad.mit.edu	37	chr18	23612376	23612376	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tacttacctggtcatatccaTaaggcctctgctggggtggc	7	12	11	11	0	2	0	1	0	1	0	3	0	3	0	3	5	3	1	3	5	4	4			TCGA-G9-6333-01A-12D-1961-08	TCGA-G9-6333-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ec7131a-d645-47a5-baa3-10b19f243846	62d82fd8-e94f-4dae-a171-a8eab417bc41	g.chr18:23612376T>G	ENST00000415083.2	-	10	1272	c.1217A>C	c.(1216-1218)tAt>tCt	p.Y406S	SS18_ENST00000539849.1_Missense_Mutation_p.Y324S|SS18_ENST00000269137.7_Missense_Mutation_p.Y375S|SS18_ENST00000545952.1_Missense_Mutation_p.Y323S|SS18_ENST00000542743.1_Missense_Mutation_p.Y323S|SS18_ENST00000542420.2_Missense_Mutation_p.Y383S	NM_001007559.1|NM_005637.2	NP_001007560.1|NP_005628.2	Q15532	SSXT_HUMAN	synovial sarcoma translocation, chromosome 18	406	Gln-rich.				cell morphogenesis (GO:0000902)|ephrin receptor signaling pathway (GO:0048013)|intracellular signal transduction (GO:0035556)|microtubule cytoskeleton organization (GO:0000226)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to drug (GO:0042493)|transcription, DNA-templated (GO:0006351)	cytoplasmic microtubule (GO:0005881)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)		SS18/SSX2(706)|SS18/SSX1(1169)|SS18/SSX4(12)	endometrium(1)|kidney(2)|large_intestine(4)|lung(11)|ovary(1)	19	all_cancers(21;0.000194)|Lung NSC(5;0.000413)|all_lung(6;0.00118)|Ovarian(20;0.124)					GTCATATCCATAAGGCCTCTG	0.453			T	"SSX1,  SSX2"	synovial sarcoma																																	ENST00000415083.2				Dom	yes		18	18q11.2	6760	T	"synovial sarcoma translocation, chromosome 18"			M	"SSX1,  SSX2"		synovial sarcoma	SS18/SSX2(706)|SS18/SSX1(1169)|SS18/SSX4(12)	0				endometrium(1)|kidney(2)|large_intestine(4)|lung(11)|ovary(1)	19						c.(1216-1218)tAt>tCt		synovial sarcoma translocation, chromosome 18							212	190	197					18																	23612376		2203	4300	6503	SO:0001583	missense	6760				positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	ligand-dependent nuclear receptor transcription coactivator activity|protein binding	g.chr18:23612376T>G	X79201	CCDS32807.1, CCDS54183.1	18q11.2	2008-07-28				ENSG00000141380			11340	protein-coding gene	gene with protein product		600192		SSXT		8152806, 7951320, 16484776	Standard	XM_005258334		Approved	SYT	uc002kvm.3	Q15532		ENST00000415083.2:c.1217A>C	18.37:g.23612376T>G	ENSP00000414516:p.Tyr406Ser					SS18_ENST00000545952.1_Missense_Mutation_p.Y323S|SS18_ENST00000542743.1_Missense_Mutation_p.Y323S|SS18_ENST00000539849.1_Missense_Mutation_p.Y324S|SS18_ENST00000542420.2_Missense_Mutation_p.Y383S|SS18_ENST00000269137.7_Missense_Mutation_p.Y375S	p.Y406S	NM_001007559.1|NM_005637.2	NP_001007560.1|NP_005628.2	Q15532	SSXT_HUMAN			10	1272	-	all_cancers(21;0.000194)|Lung NSC(5;0.000413)|all_lung(6;0.00118)|Ovarian(20;0.124)		406			Gln-rich.		B0YJ95|Q16404|Q4VAX1|Q9BXC6	Missense_Mutation	SNP	ENST00000415083.2	37	c.1217A>C	CCDS32807.1	.	.	.	.	.	.	.	.	.	.	T	17.25	3.342808	0.61073	.	.	ENSG00000141380	ENST00000415083;ENST00000269138;ENST00000269137;ENST00000542420;ENST00000542743;ENST00000539849;ENST00000545952;ENST00000539244	T;T;T;T;T	0.46063	0.88;1.0;0.99;0.97;0.99	5.01	5.01	0.66863	.	0.056198	0.64402	D	0.000001	T	0.37210	0.0995	L	0.46157	1.445	0.58432	D	0.999999	B;B;B	0.30482	0.18;0.281;0.281	B;B;B	0.22753	0.041;0.041;0.041	T	0.34329	-0.9833	10	0.87932	D	0	-5.8679	15.0182	0.71605	0.0:0.0:0.0:1.0	.	323;375;406	B4E2J6;Q4VAX0;Q15532	.;.;SSXT_HUMAN	S	409;406;375;383;323;324;323;121	ENSP00000269137:Y375S;ENSP00000438066:Y383S;ENSP00000444551:Y323S;ENSP00000444647:Y324S;ENSP00000443097:Y323S	ENSP00000269137:Y375S	Y	-	2	0	SS18	21866374	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	7.655000	0.83696	2.014000	0.59158	0.383000	0.25322	TAT		0.453	SS18-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000446226.1			6	196	0	0	0	0.001984	0	6	196					G	23612376	T	G	23612376	3	3	150	1	0	0	0	0	1	0	0	0	15174	1406	49	5	47	5	SS18	18	23612376	Missense_Mutation	SNP	T	TCGA-G9-6333-01A-12D-1961-08		23612376	54464872	37	7392											
TMPRSS9	360200	broad.mit.edu	37	chr19	2421893	2421893	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctgcgaggaggcccctggCgtgttttatctggcagggat	5	10	16	10	2	1	0	0	0	1	0	1	3	1	2	3	5	1	2	3	5	1	2			TCGA-G9-6333-01A-12D-1961-08	TCGA-G9-6333-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ec7131a-d645-47a5-baa3-10b19f243846	62d82fd8-e94f-4dae-a171-a8eab417bc41	g.chr19:2421893C>T	ENST00000332578.3	+	13	2094	c.2094C>T	c.(2092-2094)ggC>ggT	p.G698G		NM_182973.1	NP_892018.1	Q7Z410	TMPS9_HUMAN	transmembrane protease, serine 9	698	Peptidase S1 2. {ECO:0000255|PROSITE- ProRule:PRU00274}.				plasminogen activation (GO:0031639)	integral component of plasma membrane (GO:0005887)	serine-type endopeptidase activity (GO:0004252)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AGGCCCCTGGCGTGTTTTATC	0.617																																						ENST00000332578.3																			0				breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(2092-2094)ggC>ggT		transmembrane protease, serine 9							61	65	63					19																	2421893		2203	4300	6503	SO:0001819	synonymous_variant	360200				proteolysis	integral to plasma membrane	serine-type endopeptidase activity	g.chr19:2421893C>T	AJ488946	CCDS12088.1	19p13.3	2010-04-13						"Serine peptidases / Transmembrane"	30079	protein-coding gene	gene with protein product	"polyserase 1"	610477				12886014	Standard	NM_182973		Approved		uc010xgx.2	Q7Z410		ENST00000332578.3:c.2094C>T	19.37:g.2421893C>T							p.G698G	NM_182973.1	NP_892018.1	Q7Z410	TMPS9_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	13	2094	+			698			Peptidase S1 2.		Q6ZND6|Q7Z411	Silent	SNP	ENST00000332578.3	37	c.2094C>T	CCDS12088.1																																																																																				0.617	TMPRSS9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451330.3	NM_182973		11	137	0	0	0	0.013537	0	11	137					T	2421893	C	T	2421893	2	4	150	1	0	0	0	0	0	0	0	1	16250	755	27	1		1	TMPRSS9	19	2421893	Silent	SNP	C	TCGA-G9-6333-01A-12D-1961-08		2421893	56707090	38	7393											
COL6A1	1291	broad.mit.edu	37	chr21	47423618	47423618	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctgggctatgtgacccgcttCtaccgcgaggcctcgtccgg	4	9	13	15	5	1	1	0	1	1	0	3	2	2	1	4	3	1	2	4	3	2	3			TCGA-G9-6333-01A-12D-1961-08	TCGA-G9-6333-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ec7131a-d645-47a5-baa3-10b19f243846	62d82fd8-e94f-4dae-a171-a8eab417bc41	g.chr21:47423618C>T	ENST00000361866.3	+	35	2892	c.2778C>T	c.(2776-2778)ttC>ttT	p.F926F	COL6A1_ENST00000498614.1_3'UTR	NM_001848.2	NP_001839.2	P12109	CO6A1_HUMAN	collagen, type VI, alpha 1	926	C-terminal globular domain.|VWFA 3. {ECO:0000255|PROSITE- ProRule:PRU00219}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|osteoblast differentiation (GO:0001649)|protein heterotrimerization (GO:0070208)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|protein complex (GO:0043234)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)	platelet-derived growth factor binding (GO:0048407)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33	all_hematologic(128;0.24)			Colorectal(79;0.0265)|READ - Rectum adenocarcinoma(84;0.0649)		TGACCCGCTTCTACCGCGAGG	0.642																																						ENST00000361866.3																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33						c.(2776-2778)ttC>ttT		collagen, type VI, alpha 1	Palifermin(DB00039)						33	27	30					21																	47423618		2202	4299	6501	SO:0001819	synonymous_variant	1291				axon guidance|cell adhesion|protein heterotrimerization	collagen type VI|protein complex	platelet-derived growth factor binding	g.chr21:47423618C>T	M20776	CCDS13727.1	21q22.3	2014-09-17			ENSG00000142156	ENSG00000142156		"Collagens"	2211	protein-coding gene	gene with protein product		120220					Standard	XM_006723964		Approved		uc002zhu.1	P12109	OTTHUMG00000090440	ENST00000361866.3:c.2778C>T	21.37:g.47423618C>T						COL6A1_ENST00000498614.1_3'UTR	p.F926F	NM_001848.2	NP_001839.2	P12109	CO6A1_HUMAN		Colorectal(79;0.0265)|READ - Rectum adenocarcinoma(84;0.0649)	35	2892	+	all_hematologic(128;0.24)		926			C-terminal globular domain.|VWFA 3.		O00117|O00118|Q14040|Q14041|Q16258|Q7Z645|Q9BSA8	Silent	SNP	ENST00000361866.3	37	c.2778C>T	CCDS13727.1																																																																																				0.642	COL6A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206877.1	NM_001848		7	27	0	0	0	0.001984	0	7	27					T	47423618	C	T	47423618	2	4	150	1	0	0	0	0	0	0	0	1	3699	912	32	3		3	COL6A1	21	47423618	Silent	SNP	C	TCGA-G9-6333-01A-12D-1961-08		47423618	706277	39	7394											
ACR	49	broad.mit.edu	37	chr22	51178322	51178322	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tgggcgcttcattgggccggGctgcctgccccactttaagg	4	10	14	13	2	1	0	1	0	0	0	1	0	1	0	4	4	2	2	4	4	1	4			TCGA-G9-6333-01A-12D-1961-08	TCGA-G9-6333-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ec7131a-d645-47a5-baa3-10b19f243846	62d82fd8-e94f-4dae-a171-a8eab417bc41	g.chr22:51178322G>A	ENST00000216139.5	+	3	522	c.482G>A	c.(481-483)gGc>gAc	p.G161D	AC002056.5_ENST00000532913.1_RNA|ACR_ENST00000529621.1_Missense_Mutation_p.G161D|AC000036.4_ENST00000449652.1_RNA	NM_001097.2	NP_001088.2	P10323	ACRO_HUMAN	acrosin	161	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				acrosome matrix dispersal (GO:0002077)|acrosome reaction (GO:0007340)|activation of adenylate cyclase activity (GO:0007190)|binding of sperm to zona pellucida (GO:0007339)|multicellular organism reproduction (GO:0032504)|response to steroid hormone (GO:0048545)|single fertilization (GO:0007338)	acrosomal matrix (GO:0043159)|extracellular region (GO:0005576)|Golgi-associated vesicle (GO:0005798)|nucleus (GO:0005634)|protein complex (GO:0043234)	amidase activity (GO:0004040)|copper ion binding (GO:0005507)|DNA binding (GO:0003677)|drug binding (GO:0008144)|fucose binding (GO:0042806)|mannose binding (GO:0005537)|serine-type endopeptidase activity (GO:0004252)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|skin(1)	7		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;1.1e-06)|LUAD - Lung adenocarcinoma(64;0.247)		ATTGGGCCGGGCTGCCTGCCC	0.567																																						ENST00000216139.5																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|skin(1)	7						c.(481-483)gGc>gAc		acrosin							63	70	68					22																	51178322		2203	4300	6503	SO:0001583	missense	49				acrosome matrix dispersal|activation of adenylate cyclase activity	acrosomal matrix|protein complex	amidase activity|copper ion binding|DNA binding|drug binding|fucose binding|mannose binding|protein binding|serine-type endopeptidase activity|zinc ion binding	g.chr22:51178322G>A	CR456366	CCDS14101.1	22q13.33	2012-10-23	2012-10-23		ENSG00000100312	ENSG00000100312	3.4.21.10		126	protein-coding gene	gene with protein product	"preproacrosin", "acrosin light and heavy chain prepropeptide"	102480				2298447, 12398221	Standard	NM_001097		Approved		uc003bnh.4	P10323	OTTHUMG00000150155	ENST00000216139.5:c.482G>A	22.37:g.51178322G>A	ENSP00000216139:p.Gly161Asp					ACR_ENST00000529621.1_Missense_Mutation_p.G161D	p.G161D	NM_001097.2	NP_001088.2	P10323	ACRO_HUMAN		BRCA - Breast invasive adenocarcinoma(115;1.1e-06)|LUAD - Lung adenocarcinoma(64;0.247)	3	522	+		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)	161			Peptidase S1.		Q6ICK2	Missense_Mutation	SNP	ENST00000216139.5	37	c.482G>A	CCDS14101.1	.	.	.	.	.	.	.	.	.	.	g	17.39	3.378366	0.61735	.	.	ENSG00000100312	ENST00000216139;ENST00000529621	T;D	0.92858	0.28;-3.12	4.52	0.904	0.19302	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.408062	0.18094	N	0.151898	D	0.91626	0.7354	N	0.19112	0.55	0.23720	N	0.997023	D;D	0.89917	0.997;1.0	D;D	0.91635	0.995;0.999	D	0.85534	0.1211	10	0.54805	T	0.06	-9.7265	13.7399	0.62840	0.0:0.6254:0.3746:0.0	.	161;161	E9PLV5;P10323	.;ACRO_HUMAN	D	161	ENSP00000216139:G161D;ENSP00000435120:G161D	ENSP00000216139:G161D	G	+	2	0	ACR	49525188	0.055000	0.20627	0.722000	0.30670	0.934000	0.57294	0.017000	0.13399	0.607000	0.29982	0.455000	0.32223	GGC		0.567	ACR-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000316605.2	NM_001097		18	104	0	0	0	0.012319	0	18	104					A	51178322	G	A	51178322	3	1	150	1	0	0	0	0	1	0	0	0	169	1203	42	3	492	3	ACR	22	51178322	Missense_Mutation	SNP	G	TCGA-G9-6333-01A-12D-1961-08		51178322	126244	40	7395											
NUDT11	55190	broad.mit.edu	37	chrX	51239296	51239309	+	Start_Codon_Del	DEL	TCCTCGAGGCAGCC	TCCTCGAGGCAGCC	-																															ctggttgggtttgcacttcaTcctcgaggcagcctcctcga																								rs78182391		TCGA-G9-6333-01A-12D-1961-08	TCGA-G9-6333-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ec7131a-d645-47a5-baa3-10b19f243846	bf76247b-356d-41c3-b5bf-5e9859046a1a	g.chrX:51239296_51239309delTCCTCGAGGCAGCC	ENST00000375992.3	-	0	139_152					NM_018159.3	NP_060629.2	Q96G61	NUD11_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 11						inositol phosphate metabolic process (GO:0043647)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|intracellular (GO:0005622)	diphosphoinositol-polyphosphate diphosphatase activity (GO:0008486)|inositol diphosphate tetrakisphosphate diphosphatase activity (GO:0052840)|inositol-1,5-bisdiphosphate-2,3,4,6-tetrakisphosphate 1-diphosphatase activity (GO:0052846)|inositol-1,5-bisdiphosphate-2,3,4,6-tetrakisphosphate 5-diphosphatase activity (GO:0052847)|inositol-1-diphosphate-2,3,4,5,6-pentakisphosphate diphosphatase activity (GO:0052843)|inositol-3,5-bisdiphosphate-2,3,4,6-tetrakisphosphate 5-diphosphatase activity (GO:0052848)|inositol-3-diphosphate-1,2,4,5,6-pentakisphosphate diphosphatase activity (GO:0052844)|inositol-5-diphosphate-1,2,3,4,6-pentakisphosphate diphosphatase activity (GO:0052845)|metal ion binding (GO:0046872)	p.?(5)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|upper_aerodigestive_tract(2)	9	Ovarian(276;0.236)					TTGCACTTCATCCTCGAGGCAGCCTCCTCGAGGC	0.692										HNSCC(48;0.14)				2406	0.637351	0.497	0.4928	3775	,	,		5662	0.4464		0.4553	False		,,,				2504	0.5102				GBM(38;198 791 1498 11752 13599)	ENST00000375992.3																			5	Unknown(5)	p.?(5)	upper_aerodigestive_tract(2)|prostate(1)|breast(1)|central_nervous_system(1)	breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|upper_aerodigestive_tract(2)	9								nudix (nucleoside diphosphate linked moiety X)-type motif 11				1710,202		758,11,183,87,17						3	1		dbSNP_131	12	3133,173		1220,1,692,66,40	no	frameshift	NUDT11	NM_018159.3		1978,12,875,153,57	A1A1,A1R,A1,RR,R		5.2329,10.5649,7.1867				4843,375				SO:0001582	initiator_codon_variant	0					cytoplasm	diphosphoinositol-polyphosphate diphosphatase activity|metal ion binding	g.chrX:51239296_51239309delTCCTCGAGGCAGCC	AK001490	CCDS43952.1	Xp11.22-p11.1	2014-05-20			ENSG00000196368	ENSG00000196368		"Nudix motif containing"	18011	protein-coding gene	gene with protein product						12105228	Standard	NM_018159		Approved	DIPP3b, FLJ10628, hDIPP3beta	uc010njt.3	Q96G61	OTTHUMG00000021531		X.37:g.51239296_51239309delTCCTCGAGGCAGCC		HNSCC(48;0.14)						NM_018159.3	NP_060629.2	Q96G61	NUD11_HUMAN			0	139_152	-	Ovarian(276;0.236)							Q9NVN0	Translation_Start_Site	DEL	ENST00000375992.3	37		CCDS43952.1																																																																																				0.692	NUDT11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056579.1			4	4						4	4	---	---	---	---	-	51239309	TCCTCGAGGCAGCC	-	51239296	7	5	150	1	0	1	0	1	0	0	0	0	10727	1435	50	0	501	0	NUDT11	23	51239296	Start_Codon_Del	DEL	TCCTCGAGGCAGCC	TCGA-G9-6333-01A-12D-1961-08		51239296	104031264	41	7396											
HRNR	388697	broad.mit.edu	37	chr1	152192307	152192307	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atgacccgagctagatccgtGttgaccgtagccagaggact	10	8	12	11	3	0	4	0	2	0	2	1	6	1	5	4	1	2	3	4	1	2	3	rs200860192		TCGA-G9-6336-01A-11D-1786-08	TCGA-G9-6336-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab318624-db9d-41d8-b7b8-34712434f28f	aefe7099-96e0-481c-bbfe-1566024df395	g.chr1:152192307G>T	ENST00000368801.2	-	3	1873	c.1798C>A	c.(1798-1800)Cac>Aac	p.H600N	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	600					establishment of skin barrier (GO:0061436)|hematopoietic progenitor cell differentiation (GO:0002244)|keratinization (GO:0031424)	cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)	p.H600N(1)		autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTAGATCCGTGTTGACCGTAG	0.557																																						ENST00000368801.2																			1	Substitution - Missense(1)	p.H600N(1)	prostate(1)	autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192						c.(1798-1800)Cac>Aac		hornerin							267	239	248					1																	152192307		2203	4300	6503	SO:0001583	missense	388697				keratinization		calcium ion binding|protein binding	g.chr1:152192307G>T	AB104446	CCDS30859.1	1q21.3	2013-01-10			ENSG00000197915	ENSG00000197915		"EF-hand domain containing"	20846	protein-coding gene	gene with protein product	"filaggrin family member 3"						Standard	NM_001009931		Approved	S100a18, S100A16, FLG3	uc001ezt.2	Q86YZ3	OTTHUMG00000012243	ENST00000368801.2:c.1798C>A	1.37:g.152192307G>T	ENSP00000357791:p.His600Asn					FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	p.H600N	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	1873	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		600					Q5DT20|Q5U1F4	Missense_Mutation	SNP	ENST00000368801.2	37	c.1798C>A	CCDS30859.1	.	.	.	.	.	.	.	.	.	.	-	6.613	0.481421	0.12581	.	.	ENSG00000197915	ENST00000368801	T	0.04809	3.55	4.27	2.36	0.29203	.	.	.	.	.	T	0.00906	0.0030	N	0.24115	0.695	0.09310	N	1	P	0.42827	0.791	B	0.38755	0.281	T	0.41197	-0.9522	9	0.10902	T	0.67	.	6.5891	0.22636	0.0974:0.0:0.7238:0.1788	.	600	Q86YZ3	HORN_HUMAN	N	600	ENSP00000357791:H600N	ENSP00000357791:H600N	H	-	1	0	HRNR	150458931	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.018000	0.12568	0.435000	0.26365	-0.195000	0.12781	CAC		0.557	HRNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034016.1	XM_373868		47	427	1	0	9.52127e-25	0.870114	1.23776e-24	47	427					T	152192307	G	T	152192307	3	4	151	1	0	0	0	0	1	0	0	0	7359	1377	48	5	6758	5	HRNR	1	152192307	Missense_Mutation	SNP	G	TCGA-G9-6336-01A-11D-1786-08		152192307	97058314	1	7397											
KPRP	448834	broad.mit.edu	37	chr1	152733157	152733157	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcccgcagccctcctggggcGcctcctgccctgagctgagg	3	6	14	18	2	0	2	0	2	0	0	2	2	2	2	6	3	3	2	6	3	0	0			TCGA-G9-6336-01A-11D-1786-08	TCGA-G9-6336-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab318624-db9d-41d8-b7b8-34712434f28f	aefe7099-96e0-481c-bbfe-1566024df395	g.chr1:152733157G>A	ENST00000606109.1	+	1	1121	c.1093G>A	c.(1093-1095)Gcc>Acc	p.A365T	KPRP_ENST00000368773.1_Missense_Mutation_p.A365T			Q5T749	KPRP_HUMAN	keratinocyte proline-rich protein	365	Pro-rich.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)		p.A365T(1)		NS(1)|breast(1)|endometrium(9)|kidney(1)|large_intestine(10)|lung(21)|ovary(6)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTCCTGGGGCGCCTCCTGCCC	0.662																																						ENST00000368773.1																			1	Substitution - Missense(1)	p.A365T(1)	prostate(1)	NS(1)|breast(1)|endometrium(9)|kidney(1)|large_intestine(10)|lung(21)|ovary(6)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						c.(1093-1095)Gcc>Acc		keratinocyte proline-rich protein							60	62	61					1																	152733157		2203	4300	6503	SO:0001583	missense	448834					cytoplasm		g.chr1:152733157G>A	AY960854	CCDS30862.1	1q21.3	2008-02-05	2007-02-02	2006-12-07	ENSG00000203786	ENSG00000203786			31823	protein-coding gene	gene with protein product		613260	"chromosome 1 open reading frame 45"	C1orf45		16297201	Standard	NM_001025231		Approved		uc001fal.1	Q5T749	OTTHUMG00000012402	ENST00000606109.1:c.1093G>A	1.37:g.152733157G>A	ENSP00000475216:p.Ala365Thr					KPRP_ENST00000606109.1_Missense_Mutation_p.A365T	p.A365T	NM_001025231.1	NP_001020402.1	Q5T749	KPRP_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	1151	+	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		365			Pro-rich.			Missense_Mutation	SNP	ENST00000606109.1	37	c.1093G>A	CCDS30862.1	.	.	.	.	.	.	.	.	.	.	G	0.479	-0.880953	0.02530	.	.	ENSG00000203786	ENST00000368773	T	0.11930	2.73	4.62	-6.99	0.01605	.	0.929655	0.09000	N	0.863063	T	0.00998	0.0033	N	0.11560	0.145	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.42716	-0.9435	10	0.05436	T	0.98	0.0126	6.3376	0.21304	0.496:0.0:0.3045:0.1995	.	365	Q5T749	KPRP_HUMAN	T	365	ENSP00000357762:A365T	ENSP00000357762:A365T	A	+	1	0	KPRP	150999781	0.000000	0.05858	0.000000	0.03702	0.209000	0.24338	-0.811000	0.04500	-2.255000	0.00696	-1.598000	0.00824	GCC		0.662	KPRP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034522.2	NM_001025231		10	79	0	0	0	0.335167	0	10	79					A	152733157	G	A	152733157	3	1	151	1	0	0	0	0	1	0	0	0	8436	1087	38	1	1095	1	KPRP	1	152733157	Missense_Mutation	SNP	G	TCGA-G9-6336-01A-11D-1786-08	540850	152733157	96517464	2	7398											
PAPPA2	60676	broad.mit.edu	37	chr1	176668379	176668379	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tccaacacccggtccaagccGacaccctcaccctgtgggtc	8	6	8	19	2	1	0	1	0	0	0	4	1	3	0	6	2	2	0	6	2	2	0	rs201513629		TCGA-G9-6336-01A-11D-1786-08	TCGA-G9-6336-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab318624-db9d-41d8-b7b8-34712434f28f	aefe7099-96e0-481c-bbfe-1566024df395	g.chr1:176668379G>A	ENST00000367662.3	+	8	4054	c.2890G>A	c.(2890-2892)Gac>Aac	p.D964N		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	964					bone morphogenesis (GO:0060349)|cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|proteolysis (GO:0006508)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.D964N(1)		NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						GGTCCAAGCCGACACCCTCAC	0.577																																						ENST00000367662.3																			1	Substitution - Missense(1)	p.D964N(1)	prostate(1)	NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						c.(2890-2892)Gac>Aac		pappalysin 2							138	140	139					1																	176668379		2045	4189	6234	SO:0001583	missense	60676				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding	g.chr1:176668379G>A	BG354569	CCDS41438.1, CCDS41439.1	1q23-q25	2008-05-23	2004-07-07	2004-07-09	ENSG00000116183	ENSG00000116183			14615	protein-coding gene	gene with protein product			"placenta-specific 3"	PLAC3		11018262, 11264294	Standard	NM_021936		Approved	PAPPE, PAPP-A2	uc001gkz.3	Q9BXP8	OTTHUMG00000035025	ENST00000367662.3:c.2890G>A	1.37:g.176668379G>A	ENSP00000356634:p.Asp964Asn						p.D964N	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN			8	4054	+			964					A9Z1Y8|Q96PH7|Q96PH8|Q9H4C9	Missense_Mutation	SNP	ENST00000367662.3	37	c.2890G>A	CCDS41438.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.955353	0.73902	.	.	ENSG00000116183	ENST00000367662	T	0.01647	4.71	5.05	4.14	0.48551	Fibronectin, type III (2);	0.268541	0.42548	N	0.000695	T	0.04724	0.0128	M	0.64997	1.995	0.80722	D	1	D	0.65815	0.995	P	0.52793	0.709	T	0.31251	-0.9950	10	0.72032	D	0.01	-21.7285	8.7463	0.34589	0.0799:0.1516:0.7685:0.0	.	964	Q9BXP8	PAPP2_HUMAN	N	964	ENSP00000356634:D964N	ENSP00000356634:D964N	D	+	1	0	PAPPA2	174935002	0.997000	0.39634	0.747000	0.31113	0.779000	0.44077	2.669000	0.46825	1.342000	0.45619	0.655000	0.94253	GAC		0.577	PAPPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084763.1			23	158	0	0	0	0.608945	0	23	158					A	176668379	G	A	176668379	3	1	151	1	0	0	0	0	1	0	0	0	11433	1058	37	2	2969	2	PAPPA2	1	176668379	Missense_Mutation	SNP	G	TCGA-G9-6336-01A-11D-1786-08	23935222	176668379	72582242	3	7399											
GPM6A	2823	broad.mit.edu	37	chr4	176622807	176622807	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgttgacagttccagaaagcGcttcatgaccgcagccacag	11	8	10	12	2	1	3	1	2	0	1	2	3	2	3	3	0	2	4	3	0	1	3			TCGA-G9-6336-01A-11D-1786-08	TCGA-G9-6336-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab318624-db9d-41d8-b7b8-34712434f28f	aefe7099-96e0-481c-bbfe-1566024df395	g.chr4:176622807G>A	ENST00000280187.7	-	3	194	c.149C>T	c.(148-150)gCg>gTg	p.A50V	GPM6A_ENST00000393658.2_Missense_Mutation_p.A50V|GPM6A_ENST00000515090.1_Missense_Mutation_p.A43V|GPM6A_ENST00000506894.1_Missense_Mutation_p.A39V	NM_005277.4	NP_005268.1	P51674	GPM6A_HUMAN	glycoprotein M6A	50					neural retina development (GO:0003407)|neuron migration (GO:0001764)|neuron projection morphogenesis (GO:0048812)|positive regulation of filopodium assembly (GO:0051491)|stem cell differentiation (GO:0048863)|synapse assembly (GO:0007416)	axonal growth cone (GO:0044295)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	calcium channel activity (GO:0005262)	p.A50V(3)		NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	33		Breast(14;7.35e-05)|Melanoma(52;0.00909)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;9.21e-19)|Epithelial(43;3.01e-17)|OV - Ovarian serous cystadenocarcinoma(60;2.02e-09)|STAD - Stomach adenocarcinoma(60;0.00083)|GBM - Glioblastoma multiforme(59;0.00168)|LUSC - Lung squamous cell carcinoma(193;0.0388)		TCCAGAAAGCGCTTCATGACC	0.488																																						ENST00000280187.7																			3	Substitution - Missense(3)	p.A50V(3)	kidney(2)|prostate(1)	NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	33						c.(148-150)gCg>gTg		glycoprotein M6A							154	144	148					4																	176622807		2203	4300	6503	SO:0001583	missense	2823					cell surface|integral to membrane		g.chr4:176622807G>A		CCDS3824.1, CCDS54822.1, CCDS58936.1	4q34	2008-08-29				ENSG00000150625			4460	protein-coding gene	gene with protein product		601275		GPM6		8661015, 18574501	Standard	NM_005277		Approved		uc003iug.4	P51674		ENST00000280187.7:c.149C>T	4.37:g.176622807G>A	ENSP00000280187:p.Ala50Val					GPM6A_ENST00000515090.1_Missense_Mutation_p.A43V|GPM6A_ENST00000506894.1_Missense_Mutation_p.A39V|GPM6A_ENST00000393658.2_Missense_Mutation_p.A50V	p.A50V	NM_005277.4	NP_005268.1	P51674	GPM6A_HUMAN		all cancers(43;9.21e-19)|Epithelial(43;3.01e-17)|OV - Ovarian serous cystadenocarcinoma(60;2.02e-09)|STAD - Stomach adenocarcinoma(60;0.00083)|GBM - Glioblastoma multiforme(59;0.00168)|LUSC - Lung squamous cell carcinoma(193;0.0388)	3	194	-		Breast(14;7.35e-05)|Melanoma(52;0.00909)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)	50					B7Z642|E9PHI5|Q92602	Missense_Mutation	SNP	ENST00000280187.7	37	c.149C>T	CCDS3824.1	.	.	.	.	.	.	.	.	.	.	G	36	5.598683	0.96614	.	.	ENSG00000150625	ENST00000280187;ENST00000393658;ENST00000506894;ENST00000515090;ENST00000503397;ENST00000513365;ENST00000505304	D;D;D;D;D;D;D	0.99548	-6.14;-6.14;-6.14;-6.14;-6.14;-6.14;-6.14	6.01	6.01	0.97437	.	0.000000	0.85682	D	0.000000	D	0.99635	0.9866	M	0.80616	2.505	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.83275	0.996;0.996;0.996	D	0.98505	1.0616	10	0.87932	D	0	-0.21	20.5211	0.99222	0.0:0.0:1.0:0.0	.	43;39;50	B7Z642;E9PHI5;P51674	.;.;GPM6A_HUMAN	V	50;50;39;43;42;50;43	ENSP00000280187:A50V;ENSP00000377268:A50V;ENSP00000421578:A39V;ENSP00000423984:A43V;ENSP00000422959:A42V;ENSP00000423122:A50V;ENSP00000425463:A43V	ENSP00000280187:A50V	A	-	2	0	GPM6A	176859801	1.000000	0.71417	0.970000	0.41538	0.897000	0.52465	9.476000	0.97823	2.861000	0.98227	0.650000	0.86243	GCG		0.488	GPM6A-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362163.1			5	155	0	0	0	0.184627	0	5	155					A	176622807	G	A	176622807	3	1	151	1	0	0	0	0	1	0	0	0	6615	1087	38	1	711	1	GPM6A	4	176622807	Missense_Mutation	SNP	G	TCGA-G9-6336-01A-11D-1786-08		176622807	14531469	4	7400											
TCERG1	10915	broad.mit.edu	37	chr5	145890177	145890177	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acccccacctcccacagcatCggagcccacgagacgatcaa	12	3	7	19	3	1	1	1	0	0	1	3	4	2	2	5	1	2	1	5	1	1	0			TCGA-G9-6336-01A-11D-1786-08	TCGA-G9-6336-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab318624-db9d-41d8-b7b8-34712434f28f	aefe7099-96e0-481c-bbfe-1566024df395	g.chr5:145890177C>A	ENST00000296702.5	+	22	3307	c.3269C>A	c.(3268-3270)tCg>tAg	p.S1090*	TCERG1_ENST00000394421.2_Nonsense_Mutation_p.S1069*	NM_006706.3	NP_006697.2	O14776	TCRG1_HUMAN	transcription elongation regulator 1	1090					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA polymerase II repressing transcription factor binding (GO:0001103)|RNA polymerase II transcription corepressor activity (GO:0001106)|transcription coactivator activity (GO:0003713)	p.S1090*(1)		breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(18)|lung(9)|ovary(2)|prostate(3)|skin(1)	46		Lung NSC(249;0.00188)|all_lung(500;0.00307)|all_neural(839;0.0424)|Breast(839;0.0743)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CCCACAGCATCGGAGCCCACG	0.463																																						ENST00000296702.5																			1	Substitution - Nonsense(1)	p.S1090*(1)	prostate(1)	breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(18)|lung(9)|ovary(2)|prostate(3)|skin(1)	46						c.(3268-3270)tCg>tAg		transcription elongation regulator 1							78	74	76					5																	145890177		2203	4300	6503	SO:0001587	stop_gained	10915				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	protein binding|transcription coactivator activity	g.chr5:145890177C>A	AF017789	CCDS4282.1, CCDS43379.1	5q31	2010-01-25	2002-01-24	2002-01-25	ENSG00000113649	ENSG00000113649			15630	protein-coding gene	gene with protein product	"transcription factor CA150", "co-activator of 150 kDa", "TATA box binding protein (TBP)-associated factor, RNA polymerase II, S, 150kD", "TATA box-binding protein-associated factor 2S"	605409	"TATA box binding protein (TBP)-associated factor, RNA polymerase II, S, 150kD"	TAF2S		9315662, 11003711	Standard	XM_005268365		Approved	CA150, Urn1	uc003lob.3	O14776	OTTHUMG00000129683	ENST00000296702.5:c.3269C>A	5.37:g.145890177C>A	ENSP00000296702:p.Ser1090*					TCERG1_ENST00000394421.2_Nonsense_Mutation_p.S1069*	p.S1090*	NM_006706.3	NP_006697.2	O14776	TCRG1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		22	3307	+		Lung NSC(249;0.00188)|all_lung(500;0.00307)|all_neural(839;0.0424)|Breast(839;0.0743)	1090					Q2NKN2|Q59EA1	Nonsense_Mutation	SNP	ENST00000296702.5	37	c.3269C>A	CCDS4282.1	.	.	.	.	.	.	.	.	.	.	C	38	7.181790	0.98118	.	.	ENSG00000113649	ENST00000296702;ENST00000394421	.	.	.	6.16	6.16	0.99307	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-14.9243	20.8598	0.99761	0.0:1.0:0.0:0.0	.	.	.	.	X	1090;1069	.	ENSP00000296702:S1090X	S	+	2	0	TCERG1	145870370	1.000000	0.71417	0.998000	0.56505	0.919000	0.55068	5.960000	0.70348	2.937000	0.99478	0.650000	0.86243	TCG		0.463	TCERG1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251886.1	NM_001040006		3	97	1	0	0.115264	0.115264	0.121494	3	97					A	145890177	C	A	145890177	4	1	151	1	0	0	0	0	0	1	0	0	15682	893	31	5	3355	5	TCERG1	5	145890177	Nonsense_Mutation	SNP	C	TCGA-G9-6336-01A-11D-1786-08		145890177	35025083	5	7401											
CD109	135228	broad.mit.edu	37	chr6	74491004	74491004	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgtggactctgggtattgaCagatgcaaacctcacgaagg	12	9	12	8	1	2	2	1	1	1	1	2	4	2	3	1	3	2	2	1	3	3	2			TCGA-G9-6336-01A-11D-1786-08	TCGA-G9-6336-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab318624-db9d-41d8-b7b8-34712434f28f	aefe7099-96e0-481c-bbfe-1566024df395	g.chr6:74491004C>A	ENST00000287097.5	+	17	2037	c.1925C>A	c.(1924-1926)aCa>aAa	p.T642K	CD109_ENST00000437994.2_Missense_Mutation_p.T642K|CD109_ENST00000422508.2_Missense_Mutation_p.T565K			Q6YHK3	CD109_HUMAN	CD109 molecule	642	Bait region (approximate). {ECO:0000250}.				negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of wound healing (GO:0061045)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	serine-type endopeptidase inhibitor activity (GO:0004867)|transforming growth factor beta binding (GO:0050431)	p.T642K(2)		NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						TGGGTATTGACAGATGCAAAC	0.318																																						ENST00000437994.2																			2	Substitution - Missense(2)	p.T642K(2)	prostate(2)	NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						c.(1924-1926)aCa>aAa		CD109 molecule							158	150	153					6																	74491004		2203	4300	6503	SO:0001583	missense	135228					anchored to membrane|extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity	g.chr6:74491004C>A	AF410459	CCDS4982.1, CCDS55038.1, CCDS55039.1	6q14.1	2008-02-05	2006-03-28		ENSG00000156535	ENSG00000156535		"CD molecules"	21685	protein-coding gene	gene with protein product		608859	"CD109 antigen (Gov platelet alloantigens)"			11861284, 11861285	Standard	XM_005248659		Approved	FLJ38569, DKFZp762L1111, CPAMD7	uc003php.3	Q6YHK3	OTTHUMG00000015040	ENST00000287097.5:c.1925C>A	6.37:g.74491004C>A	ENSP00000287097:p.Thr642Lys					CD109_ENST00000287097.5_Missense_Mutation_p.T642K|CD109_ENST00000422508.2_Missense_Mutation_p.T565K	p.T642K	NM_001159587.1|NM_133493.3	NP_001153059.1|NP_598000.2	Q6YHK3	CD109_HUMAN			17	2356	+			642			Bait region (approximate) (By similarity).		A5YKK4|B2R948|B3KW25|Q0P6K7|Q5SYA8|Q5XUM7|Q5XUM9|Q6MZI7|Q8N3A7|Q8N915|Q8TDJ2|Q8TDJ3	Missense_Mutation	SNP	ENST00000287097.5	37	c.1925C>A	CCDS4982.1	.	.	.	.	.	.	.	.	.	.	C	14.64	2.595567	0.46318	.	.	ENSG00000156535	ENST00000437994;ENST00000422508;ENST00000287097	T;T;T	0.30981	1.51;1.72;1.51	4.48	3.6	0.41247	.	0.055528	0.64402	D	0.000001	T	0.24044	0.0582	N	0.19112	0.55	0.44424	D	0.997342	D;D;D;D	0.76494	0.997;0.997;0.999;0.991	D;D;D;P	0.67382	0.951;0.945;0.933;0.883	T	0.09862	-1.0655	10	0.87932	D	0	.	9.8406	0.40996	0.1563:0.693:0.1507:0.0	.	565;642;642;642	Q6YHK3-2;Q6YHK3-3;Q6YHK3-4;Q6YHK3	.;.;.;CD109_HUMAN	K	642;565;642	ENSP00000388062:T642K;ENSP00000404475:T565K;ENSP00000287097:T642K	ENSP00000287097:T642K	T	+	2	0	CD109	74547725	0.995000	0.38212	0.993000	0.49108	0.268000	0.26511	3.616000	0.54174	1.240000	0.43803	0.650000	0.86243	ACA		0.318	CD109-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041230.3	NM_133493		3	72	1	0	0.004672	0.115264	0.00520594	3	72					A	74491004	C	A	74491004	3	1	151	1	0	0	0	0	1	0	0	0	2963	478	17	5	1991	5	CD109	6	74491004	Missense_Mutation	SNP	C	TCGA-G9-6336-01A-11D-1786-08		74491004	96624063	6	7402											
MKLN1	4289	broad.mit.edu	37	chr7	131172448	131172448	+	Silent	SNP	T	T	G																															ttctttcctgacagcatgacTcctcctaaaggcaacctggt																										TCGA-G9-6336-01A-11D-1786-08	TCGA-G9-6336-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab318624-db9d-41d8-b7b8-34712434f28f	aefe7099-96e0-481c-bbfe-1566024df395	g.chr7:131172448T>G	ENST00000352689.6	+	18	2209	c.2169T>G	c.(2167-2169)acT>acG	p.T723T	MKLN1_ENST00000498778.1_3'UTR|MKLN1_ENST00000421797.2_Silent_p.T631T	NM_013255.4	NP_037387.2	Q9UL63	MKLN1_HUMAN	muskelin 1, intracellular mediator containing kelch motifs	723					signal transduction (GO:0007165)	cytoplasm (GO:0005737)		p.T723T(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	28	Melanoma(18;0.162)					ACAGCATGACTCCTCCTAAAG	0.433																																						ENST00000352689.6																			1	Substitution - coding silent(1)	p.T723T(1)	prostate(1)	breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	28						c.(2167-2169)acT>acG		muskelin 1, intracellular mediator containing kelch motifs							93	84	87					7																	131172448		2203	4300	6503	SO:0001819	synonymous_variant	4289				signal transduction	cytoplasm	protein binding	g.chr7:131172448T>G	AF047489	CCDS34754.1	7q32	2008-07-18			ENSG00000128585	ENSG00000128585			7109	protein-coding gene	gene with protein product		605623				10640805	Standard	NM_001145354		Approved	TWA2	uc011kpm.2	Q9UL63	OTTHUMG00000154880	ENST00000352689.6:c.2169T>G	7.37:g.131172448T>G						MKLN1_ENST00000421797.2_Silent_p.T631T|MKLN1_ENST00000498778.1_3'UTR	p.T723T	NM_013255.4	NP_037387.2	Q9UL63	MKLN1_HUMAN			18	2209	+	Melanoma(18;0.162)		723					A4D1M8|A6NG43|Q9NSK4|Q9NUS8	Silent	SNP	ENST00000352689.6	37	c.2169T>G	CCDS34754.1																																																																																				0.433	MKLN1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000337473.4	NM_013255		12	56	0	0	0	0.38729	0	12	56					G	131172448	T	G	131172448	2	3	151	1	0	0	0	0	0	0	0	1	9603	1538	54	5		5	MKLN1	7	131172448	Silent	SNP	T	TCGA-G9-6336-01A-11D-1786-08		131172448	27966215	7	7403	43	2									
MKLN1	4289	broad.mit.edu	37	chr7	131172449	131172449	+	Missense_Mutation	SNP	C	C	A																															tctttcctgacagcatgactCctcctaaaggcaacctggta																										TCGA-G9-6336-01A-11D-1786-08	TCGA-G9-6336-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab318624-db9d-41d8-b7b8-34712434f28f	aefe7099-96e0-481c-bbfe-1566024df395	g.chr7:131172449C>A	ENST00000352689.6	+	18	2210	c.2170C>A	c.(2170-2172)Cct>Act	p.P724T	MKLN1_ENST00000498778.1_3'UTR|MKLN1_ENST00000421797.2_Missense_Mutation_p.P632T	NM_013255.4	NP_037387.2	Q9UL63	MKLN1_HUMAN	muskelin 1, intracellular mediator containing kelch motifs	724					signal transduction (GO:0007165)	cytoplasm (GO:0005737)		p.P724T(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	28	Melanoma(18;0.162)					CAGCATGACTCCTCCTAAAGG	0.433																																						ENST00000352689.6																			1	Substitution - Missense(1)	p.P724T(1)	prostate(1)	breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	28						c.(2170-2172)Cct>Act		muskelin 1, intracellular mediator containing kelch motifs							91	83	86					7																	131172449		2203	4300	6503	SO:0001583	missense	4289				signal transduction	cytoplasm	protein binding	g.chr7:131172449C>A	AF047489	CCDS34754.1	7q32	2008-07-18			ENSG00000128585	ENSG00000128585			7109	protein-coding gene	gene with protein product		605623				10640805	Standard	NM_001145354		Approved	TWA2	uc011kpm.2	Q9UL63	OTTHUMG00000154880	ENST00000352689.6:c.2170C>A	7.37:g.131172449C>A	ENSP00000323527:p.Pro724Thr					MKLN1_ENST00000421797.2_Missense_Mutation_p.P632T|MKLN1_ENST00000498778.1_3'UTR	p.P724T	NM_013255.4	NP_037387.2	Q9UL63	MKLN1_HUMAN			18	2210	+	Melanoma(18;0.162)		724					A4D1M8|A6NG43|Q9NSK4|Q9NUS8	Missense_Mutation	SNP	ENST00000352689.6	37	c.2170C>A	CCDS34754.1	.	.	.	.	.	.	.	.	.	.	C	18.98	3.736842	0.69304	.	.	ENSG00000128585	ENST00000421797;ENST00000352689	T;T	0.42131	1.98;0.98	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	T	0.31104	0.0786	N	0.22421	0.69	0.80722	D	1	B;P	0.48764	0.105;0.915	B;B	0.36922	0.014;0.236	T	0.15549	-1.0433	10	0.52906	T	0.07	-12.2078	18.7915	0.91975	0.0:1.0:0.0:0.0	.	724;701	Q9UL63;B4DG30	MKLN1_HUMAN;.	T	632;724	ENSP00000398094:P632T;ENSP00000323527:P724T	ENSP00000323527:P724T	P	+	1	0	MKLN1	130822989	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.796000	0.85898	2.677000	0.91161	0.655000	0.94253	CCT		0.433	MKLN1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000337473.4	NM_013255		12	56	1	0	0.0809354	0.38729	0.08768	12	56					A	131172449	C	A	131172449	3	1	151	1	0	0	0	0	1	0	0	0	9603	855	30	5	2273	5	MKLN1	7	131172449	Missense_Mutation	SNP	C	TCGA-G9-6336-01A-11D-1786-08	1	131172449	27966214	8	7404	43	2									
PXDNL	137902	broad.mit.edu	37	chr8	52320734	52320734	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ctgaagtcaacatatggtggGatcccgtggtctctacccct	8	11	10	12	1	2	1	1	1	1	0	4	2	3	2	3	3	2	0	3	3	4	2			TCGA-G9-6336-01A-11D-1786-08	TCGA-G9-6336-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab318624-db9d-41d8-b7b8-34712434f28f	aefe7099-96e0-481c-bbfe-1566024df395	g.chr8:52320734G>T	ENST00000356297.4	-	17	3550	c.3450C>A	c.(3448-3450)atC>atA	p.I1150I	PXDNL_ENST00000543296.1_Silent_p.I1150I	NM_144651.4	NP_653252	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	1150					hydrogen peroxide catabolic process (GO:0042744)|oxidation-reduction process (GO:0055114)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	endonuclease activity (GO:0004519)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)	p.I349I(1)|p.I1150I(1)		NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				CATATGGTGGGATCCCGTGGT	0.448																																						ENST00000356297.4																			2	Substitution - coding silent(2)	p.I349I(1)|p.I1150I(1)	prostate(2)	NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48						c.(3448-3450)atC>atA		peroxidasin homolog (Drosophila)-like							96	97	97					8																	52320734		1854	4106	5960	SO:0001819	synonymous_variant	137902				hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity	g.chr8:52320734G>T		CCDS47855.1	8q11.21-q11.22	2013-02-18	2007-01-12		ENSG00000147485	ENSG00000147485		"Immunoglobulin superfamily / I-set domain containing"	26359	protein-coding gene	gene with protein product	"polysomal ribonuclease 1 homolog (Xenopus)"	615904	"peroxidasin homolog-like (Drosophila)"			22543864	Standard	NM_144651		Approved	FLJ25471, PMR1	uc003xqu.4	A1KZ92	OTTHUMG00000164244	ENST00000356297.4:c.3450C>A	8.37:g.52320734G>T						PXDNL_ENST00000543296.1_Silent_p.I1150I	p.I1150I	NM_144651.4	NP_653252.3	A1KZ92	PXDNL_HUMAN			17	3550	-		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)	1150					B5ME43|B6CGZ3|H0YBM9|Q6ZMR2|Q96LH9	Silent	SNP	ENST00000356297.4	37	c.3450C>A	CCDS47855.1	.	.	.	.	.	.	.	.	.	.	G	0.051	-1.250394	0.01469	.	.	ENSG00000147485	ENST00000522933	.	.	.	3.82	-0.651	0.11454	.	.	.	.	.	T	0.43678	0.1258	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.23833	-1.0177	4	.	.	.	.	3.8635	0.09005	0.2003:0.0:0.3378:0.4618	.	.	.	.	Y	269	.	.	S	-	2	0	PXDNL	52483287	0.115000	0.22152	0.000000	0.03702	0.002000	0.02628	-0.805000	0.04530	-0.218000	0.10018	-0.136000	0.14681	TCC		0.448	PXDNL-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377905.1	NM_144651		20	163	1	0	1.96292e-10	0.592651	2.46948e-10	20	163					T	52320734	G	T	52320734	2	4	151	1	0	0	0	0	0	0	0	1	12848	1164	41	5		5	PXDNL	8	52320734	Silent	SNP	G	TCGA-G9-6336-01A-11D-1786-08		52320734	94043288	9	7405											
RASEF	158158	broad.mit.edu	37	chr9	85597623	85597623	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aacaattcttcatctgtggtGactttttggaattggtcccg	8	16	9	8	1	3	1	1	1	2	0	4	2	4	2	1	3	1	0	1	3	3	5			TCGA-G9-6336-01A-11D-1786-08	TCGA-G9-6336-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab318624-db9d-41d8-b7b8-34712434f28f	aefe7099-96e0-481c-bbfe-1566024df395	g.chr9:85597623G>A	ENST00000376447.3	-	17	2452	c.2192C>T	c.(2191-2193)tCa>tTa	p.S731L		NM_152573.2	NP_689786.2	Q8IZ41	RASEF_HUMAN	RAS and EF-hand domain containing	731					protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|GTP binding (GO:0005525)	p.S731L(1)		NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(4)|liver(1)|lung(15)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	33						CATCTGTGGTGACTTTTTGGA	0.413																																						ENST00000376447.3																			1	Substitution - Missense(1)	p.S731L(1)	prostate(1)	NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(4)|liver(1)|lung(15)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	33						c.(2191-2193)tCa>tTa		RAS and EF-hand domain containing							389	358	369					9																	85597623		2203	4300	6503	SO:0001583	missense	158158				protein transport|small GTPase mediated signal transduction	perinuclear region of cytoplasm	calcium ion binding|GTP binding	g.chr9:85597623G>A	AK056176	CCDS6662.1	9q21.33	2014-05-09	2004-06-11	2004-06-16	ENSG00000165105	ENSG00000165105		"EF-hand domain containing", "RAB, member RAS oncogene"	26464	protein-coding gene	gene with protein product		611344	"RAB45, member RAS oncogene family"	RAB45		17448446	Standard	NM_152573		Approved	FLJ31614	uc004amo.2	Q8IZ41	OTTHUMG00000020100	ENST00000376447.3:c.2192C>T	9.37:g.85597623G>A	ENSP00000365630:p.Ser731Leu						p.S731L	NM_152573.2	NP_689786.2	Q8IZ41	RASEF_HUMAN			17	2452	-			731					A6NC29|Q96N04	Missense_Mutation	SNP	ENST00000376447.3	37	c.2192C>T	CCDS6662.1	.	.	.	.	.	.	.	.	.	.	G	15.68	2.905545	0.52333	.	.	ENSG00000165105	ENST00000376447	T	0.62232	0.04	5.05	5.05	0.67936	.	0.445847	0.22362	N	0.061066	T	0.52805	0.1757	L	0.29908	0.895	0.80722	D	1	B	0.25955	0.138	B	0.21917	0.037	T	0.53229	-0.8468	10	0.54805	T	0.06	.	17.2097	0.86927	0.0:0.0:1.0:0.0	.	731	Q8IZ41	RASEF_HUMAN	L	731	ENSP00000365630:S731L	ENSP00000365630:S731L	S	-	2	0	RASEF	84787443	1.000000	0.71417	0.279000	0.24732	0.831000	0.47069	5.775000	0.68915	2.360000	0.80028	0.591000	0.81541	TCA		0.413	RASEF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052825.1	NM_152573		22	178	0	0	0	0.592651	0	22	178					A	85597623	G	A	85597623	3	1	151	1	0	0	0	0	1	0	0	0	13068	1294	45	3	34	3	RASEF	9	85597623	Missense_Mutation	SNP	G	TCGA-G9-6336-01A-11D-1786-08		85597623	55615808	10	7406											
PAPPA	5069	broad.mit.edu	37	chr9	118950296	118950296	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gggatgagaactgtgaccccGagtgcaaccacacgctgacg	11	5	13	12	3	0	3	0	3	0	1	0	6	0	4	3	1	3	2	3	1	2	0			TCGA-G9-6336-01A-11D-1786-08	TCGA-G9-6336-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab318624-db9d-41d8-b7b8-34712434f28f	aefe7099-96e0-481c-bbfe-1566024df395	g.chr9:118950296G>A	ENST00000328252.3	+	2	1648	c.1279G>A	c.(1279-1281)Gag>Aag	p.E427K	PAPPA_ENST00000534838.1_5'Flank	NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A, pappalysin 1	427	Metalloprotease.				cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|female pregnancy (GO:0007565)|response to follicle-stimulating hormone (GO:0032354)|response to glucocorticoid (GO:0051384)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)	endopeptidase activity (GO:0004175)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.E427K(1)		NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						CTGTGACCCCGAGTGCAACCA	0.632																																						ENST00000328252.3																			1	Substitution - Missense(1)	p.E427K(1)	prostate(1)	NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						c.(1279-1281)Gag>Aag		pregnancy-associated plasma protein A, pappalysin 1							64	54	58					9																	118950296		2203	4300	6503	SO:0001583	missense	5069				cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding	g.chr9:118950296G>A		CCDS6813.1	9q33.1	2014-03-05			ENSG00000182752	ENSG00000182752			8602	protein-coding gene	gene with protein product	"insulin-like growth factor-dependent IGF binding protein-4 protease", "aspecific BCL2 ARE-binding protein 2", "differentially placenta 1 expressed protein"	176385				7679961	Standard	NM_002581		Approved	PAPP-A, PAPPA1, IGFBP-4ase, PAPA, ASBABP2, DIPLA1	uc004bjn.3	Q13219	OTTHUMG00000021045	ENST00000328252.3:c.1279G>A	9.37:g.118950296G>A	ENSP00000330658:p.Glu427Lys						p.E427K	NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN			2	1648	+			427			Metalloprotease.		B1AMF9|Q08371|Q68G52|Q9UDK7	Missense_Mutation	SNP	ENST00000328252.3	37	c.1279G>A	CCDS6813.1	.	.	.	.	.	.	.	.	.	.	G	34	5.389920	0.95988	.	.	ENSG00000182752	ENST00000328252	D	0.92446	-3.04	6.07	6.07	0.98685	Notch domain (2);	0.000000	0.85682	D	0.000000	D	0.96219	0.8767	M	0.73962	2.25	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.95811	0.8841	10	0.87932	D	0	-27.3797	20.6593	0.99626	0.0:0.0:1.0:0.0	.	427	Q13219	PAPP1_HUMAN	K	427	ENSP00000330658:E427K	ENSP00000330658:E427K	E	+	1	0	PAPPA	117990117	1.000000	0.71417	0.971000	0.41717	0.968000	0.65278	9.827000	0.99397	2.885000	0.99019	0.655000	0.94253	GAG		0.632	PAPPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055546.1	NM_002581		4	61	0	0	0	0.150653	0	4	61					A	118950296	G	A	118950296	3	1	151	1	0	0	0	0	1	0	0	0	11432	1059	37	2	1285	2	PAPPA	9	118950296	Missense_Mutation	SNP	G	TCGA-G9-6336-01A-11D-1786-08	33352673	118950296	22263135	11	7407											
NR6A1	2649	broad.mit.edu	37	chr9	127316735	127316735	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cccgtttgttgcaaatgctcCgcttgaaaaaccctttgcag	9	12	8	12	2	0	1	0	1	0	0	1	1	1	1	3	0	4	6	3	0	3	4			TCGA-G9-6336-01A-11D-1786-08	TCGA-G9-6336-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab318624-db9d-41d8-b7b8-34712434f28f	aefe7099-96e0-481c-bbfe-1566024df395	g.chr9:127316735C>T	ENST00000487099.2	-	3	414	c.257G>A	c.(256-258)cGg>cAg	p.R86Q	NR6A1_ENST00000373584.3_Missense_Mutation_p.R82Q|NR6A1_ENST00000344523.4_Missense_Mutation_p.R86Q|NR6A1_ENST00000416460.2_Missense_Mutation_p.R82Q	NM_001278546.1	NP_001265475.1	Q15406	NR6A1_HUMAN	nuclear receptor subfamily 6, group A, member 1	86					cell proliferation (GO:0008283)|gamete generation (GO:0007276)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|spermatogenesis (GO:0007283)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)	p.R86Q(1)		NS(1)|breast(1)|cervix(1)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(1)	17						GCAAATGCTCCGCTTGAAAAA	0.527																																					Esophageal Squamous(192;272 2884 6208 20560)	ENST00000487099.2																			1	Substitution - Missense(1)	p.R86Q(1)	prostate(1)	NS(1)|breast(1)|cervix(1)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(1)	17						c.(256-258)cGg>cAg		nuclear receptor subfamily 6, group A, member 1							141	124	130					9																	127316735		2203	4300	6503	SO:0001583	missense	2649				cell proliferation|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|spermatogenesis	transcription factor complex	protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	g.chr9:127316735C>T	U64876	CCDS35137.1, CCDS55340.1, CCDS65127.1	9q33.3	2014-01-21			ENSG00000148200	ENSG00000148200		"Nuclear hormone receptors"	7985	protein-coding gene	gene with protein product		602778		GCNF		9134503, 8982251	Standard	NM_001489		Approved	GCNF1, RTR, CT150	uc004bor.1	Q15406	OTTHUMG00000020661	ENST00000487099.2:c.257G>A	9.37:g.127316735C>T	ENSP00000420267:p.Arg86Gln					NR6A1_ENST00000373584.3_Missense_Mutation_p.R82Q|NR6A1_ENST00000344523.4_Missense_Mutation_p.R86Q|NR6A1_ENST00000416460.2_Missense_Mutation_p.R82Q	p.R86Q	NM_001278546.1	NP_001265475.1	Q15406	NR6A1_HUMAN			3	414	-			86					O00551|O00603|Q5T6F4|Q8NHQ0|Q92898|Q99802	Missense_Mutation	SNP	ENST00000487099.2	37	c.257G>A	CCDS35137.1	.	.	.	.	.	.	.	.	.	.	C	36	5.717555	0.96839	.	.	ENSG00000148200	ENST00000487099;ENST00000373584;ENST00000416460;ENST00000344523;ENST00000475178	D;D;D;D;D	0.98958	-5.27;-5.27;-5.27;-5.27;-5.27	5.66	5.66	0.87406	Zinc finger, NHR/GATA-type (1);Zinc finger, nuclear hormone receptor-type (5);	0.000000	0.85682	D	0.000000	D	0.99569	0.9845	H	0.99058	4.415	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.998	D;D;P	0.79784	0.991;0.993;0.845	D	0.97777	1.0230	10	0.87932	D	0	.	18.751	0.91814	0.0:1.0:0.0:0.0	.	82;86;82	F1DAM1;Q15406;Q15406-5	.;NR6A1_HUMAN;.	Q	86;82;82;86;44	ENSP00000420267:R86Q;ENSP00000362686:R82Q;ENSP00000413701:R82Q;ENSP00000341135:R86Q;ENSP00000420587:R44Q	ENSP00000341135:R86Q	R	-	2	0	NR6A1	126356556	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.814000	0.86154	2.653000	0.90120	0.563000	0.77884	CGG		0.527	NR6A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000054043.4			12	111	0	0	0	0.38729	0	12	111					T	127316735	C	T	127316735	3	4	151	1	0	0	0	0	1	0	0	0	10637	652	23	2	1217	2	NR6A1	9	127316735	Missense_Mutation	SNP	C	TCGA-G9-6336-01A-11D-1786-08	8366439	127316735	13896696	12	7408											
KIF11	3832	broad.mit.edu	37	chr10	94390060	94390060	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taaattacaacttgttaaagAagaatatatcacatcagctt	18	13	4	6	0	2	2	2	0	0	2	2	2	2	2	0	0	3	2	0	0	10	7			TCGA-G9-6336-01A-11D-1786-08	TCGA-G9-6336-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab318624-db9d-41d8-b7b8-34712434f28f	aefe7099-96e0-481c-bbfe-1566024df395	g.chr10:94390060A>G	ENST00000260731.3	+	12	1523	c.1433A>G	c.(1432-1434)gAa>gGa	p.E478G		NM_004523.3	NP_004514.2	P52732	KIF11_HUMAN	kinesin family member 11	478					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|chromosome segregation (GO:0007059)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic centrosome separation (GO:0007100)|mitotic nuclear division (GO:0007067)|mitotic spindle organization (GO:0007052)|spindle assembly involved in mitosis (GO:0090307)|spindle organization (GO:0007051)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)|spindle (GO:0005819)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)|protein complex binding (GO:0032403)|protein kinase binding (GO:0019901)	p.E478G(1)		breast(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CTTGTTAAAGAAGAATATATC	0.343																																					Colon(47;212 1003 2764 4062 8431)	ENST00000260731.3																			1	Substitution - Missense(1)	p.E478G(1)	prostate(1)	breast(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(1432-1434)gAa>gGa		kinesin family member 11							67	66	66					10																	94390060		2203	4299	6502	SO:0001583	missense	3832				blood coagulation|cell division|microtubule-based movement|spindle assembly involved in mitosis	chromatin remodeling complex|cytosol|kinesin complex|microtubule|spindle pole	ATP binding|microtubule motor activity|protein kinase binding	g.chr10:94390060A>G	X85137	CCDS7422.1	10q24.1	2008-03-03	2003-01-09	2003-01-10	ENSG00000138160	ENSG00000138160		"Kinesins"	6388	protein-coding gene	gene with protein product		148760	"kinesin-like 1"	KNSL1		1505978, 8548803	Standard	NM_004523		Approved	Eg5, HKSP, TRIP5	uc001kic.3	P52732	OTTHUMG00000018761	ENST00000260731.3:c.1433A>G	10.37:g.94390060A>G	ENSP00000260731:p.Glu478Gly						p.E478G	NM_004523.3	NP_004514.2	P52732	KIF11_HUMAN			12	1523	+			478					A0AV49|B2RMV3|Q15716|Q5VWX0	Missense_Mutation	SNP	ENST00000260731.3	37	c.1433A>G	CCDS7422.1	.	.	.	.	.	.	.	.	.	.	a	21.7	4.190339	0.78789	.	.	ENSG00000138160	ENST00000260731	T	0.75589	-0.95	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	D	0.85733	0.5765	M	0.79805	2.47	0.58432	D	0.999999	D	0.76494	0.999	D	0.66351	0.943	D	0.86674	0.1912	10	0.49607	T	0.09	.	15.6352	0.76946	1.0:0.0:0.0:0.0	.	478	P52732	KIF11_HUMAN	G	478	ENSP00000260731:E478G	ENSP00000260731:E478G	E	+	2	0	KIF11	94380040	1.000000	0.71417	0.995000	0.50966	0.965000	0.64279	6.941000	0.75922	2.165000	0.68154	0.528000	0.53228	GAA		0.343	KIF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049401.1	NM_004523		7	46	0	0	0	0.248553	0	7	46					G	94390060	A	G	94390060	3	3	151	1	0	0	0	0	1	0	0	0	8272	246	9	4	1479	4	KIF11	10	94390060	Missense_Mutation	SNP	A	TCGA-G9-6336-01A-11D-1786-08		94390060	41144687	13	7409											
COL17A1	1308	broad.mit.edu	37	chr10	105798253	105798253	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggggcccagggggccctggcGggcctgacacgtacatggta	6	5	18	12	2	0	1	0	1	0	0	0	1	0	1	3	7	1	2	3	7	2	2			TCGA-G9-6336-01A-11D-1786-08	TCGA-G9-6336-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab318624-db9d-41d8-b7b8-34712434f28f	aefe7099-96e0-481c-bbfe-1566024df395	g.chr10:105798253G>A	ENST00000353479.5	-	45	3271	c.2981C>T	c.(2980-2982)cCg>cTg	p.P994L	COL17A1_ENST00000369733.3_Missense_Mutation_p.P949L	NM_000494.3	NP_000485.3	Q9UMD9	COHA1_HUMAN	collagen, type XVII, alpha 1	994	Triple-helical region.				cell junction assembly (GO:0034329)|cell-matrix adhesion (GO:0007160)|collagen catabolic process (GO:0030574)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|hemidesmosome (GO:0030056)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)		p.P994L(2)		NS(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|liver(1)|lung(22)|ovary(5)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	62		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		GGGCCCTGGCGGGCCTGACAC	0.597																																						ENST00000353479.5																			2	Substitution - Missense(2)	p.P994L(2)	prostate(1)|endometrium(1)	NS(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|liver(1)|lung(22)|ovary(5)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	62						c.(2980-2982)cCg>cTg		collagen, type XVII, alpha 1							62	71	68					10																	105798253		2200	4294	6494	SO:0001583	missense	1308				cell-matrix adhesion|epidermis development|hemidesmosome assembly	basement membrane|cell-cell junction|collagen|hemidesmosome|integral to plasma membrane	protein binding	g.chr10:105798253G>A	M91669	CCDS7554.1	10q24.3	2013-01-16			ENSG00000065618	ENSG00000065618		"Collagens"	2194	protein-coding gene	gene with protein product		113811		BPAG2		7916703	Standard	NM_000494		Approved	BP180	uc001kxr.3	Q9UMD9	OTTHUMG00000018998	ENST00000353479.5:c.2981C>T	10.37:g.105798253G>A	ENSP00000340937:p.Pro994Leu					COL17A1_ENST00000369733.3_Missense_Mutation_p.P949L	p.P994L	NM_000494.3	NP_000485.3	Q9UMD9	COHA1_HUMAN		Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)	45	3271	-		Colorectal(252;0.103)|Breast(234;0.122)	994			Triple-helical region.		Q02802|Q5JV36|Q99018|Q9NQK9|Q9UC14	Missense_Mutation	SNP	ENST00000353479.5	37	c.2981C>T	CCDS7554.1	.	.	.	.	.	.	.	.	.	.	G	18.07	3.541454	0.65085	.	.	ENSG00000065618	ENST00000353479;ENST00000369733	D;D	0.91945	-1.76;-2.94	4.81	4.81	0.61882	.	0.000000	0.43579	D	0.000547	D	0.93743	0.8000	L	0.45581	1.43	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.91884	0.5518	10	0.23302	T	0.38	-9.4754	14.8213	0.70074	0.0:0.0:1.0:0.0	.	994	Q9UMD9	COHA1_HUMAN	L	994;949	ENSP00000340937:P994L;ENSP00000358748:P949L	ENSP00000340937:P994L	P	-	2	0	COL17A1	105788243	1.000000	0.71417	0.477000	0.27303	0.014000	0.08584	4.113000	0.57851	2.222000	0.72286	0.462000	0.41574	CCG		0.597	COL17A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050181.1	NM_130778, NM_000494		23	165	0	0	0	0.608945	0	23	165					A	105798253	G	A	105798253	3	1	151	1	0	0	0	0	1	0	0	0	3674	1116	39	2	1560	2	COL17A1	10	105798253	Missense_Mutation	SNP	G	TCGA-G9-6336-01A-11D-1786-08	11408193	105798253	29736494	14	7410											
ARHGAP20	57569	broad.mit.edu	37	chr11	110450382	110450382	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ggggacagtccttcagctgcCcttaagggcaagtctttttg	7	12	12	10	0	2	0	1	0	1	0	3	1	3	1	2	3	2	2	2	3	2	4			TCGA-G9-6336-01A-11D-1786-08	TCGA-G9-6336-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab318624-db9d-41d8-b7b8-34712434f28f	aefe7099-96e0-481c-bbfe-1566024df395	g.chr11:110450382C>T	ENST00000260283.4	-	16	3572	c.3288G>A	c.(3286-3288)agG>agA	p.R1096R	ARHGAP20_ENST00000357139.3_Silent_p.R1070R|ARHGAP20_ENST00000527598.1_Silent_p.R1060R|ARHGAP20_ENST00000528829.1_Silent_p.R1060R|ARHGAP20_ENST00000533353.1_Silent_p.R1070R|ARHGAP20_ENST00000529591.1_Silent_p.R639R|ARHGAP20_ENST00000524756.1_Silent_p.R1073R	NM_020809.3	NP_065860.2	Q9P2F6	RHG20_HUMAN	Rho GTPase activating protein 20	1096					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)	p.R1096R(1)		breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(18)|lung(13)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	60		all_cancers(61;3.26e-12)|all_epithelial(67;6.09e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000484)|Acute lymphoblastic leukemia(157;0.000967)|all_neural(223;0.0199)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;3.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|all cancers(92;0.000147)|OV - Ovarian serous cystadenocarcinoma(223;0.0475)		CTTCAGCTGCCCTTAAGGGCA	0.522																																						ENST00000260283.4																			1	Substitution - coding silent(1)	p.R1096R(1)	prostate(1)	breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(18)|lung(13)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	60						c.(3286-3288)agG>agA		Rho GTPase activating protein 20							73	76	75					11																	110450382		2201	4298	6499	SO:0001819	synonymous_variant	57569				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	g.chr11:110450382C>T	AB037812	CCDS31673.1, CCDS58175.1, CCDS58176.1, CCDS58177.1	11q23.2	2011-06-29			ENSG00000137727	ENSG00000137727		"Rho GTPase activating proteins"	18357	protein-coding gene	gene with protein product		609568				14532992	Standard	NM_020809		Approved	KIAA1391	uc001pkz.2	Q9P2F6	OTTHUMG00000166590	ENST00000260283.4:c.3288G>A	11.37:g.110450382C>T						ARHGAP20_ENST00000533353.1_Silent_p.R1070R|ARHGAP20_ENST00000528829.1_Silent_p.R1060R|ARHGAP20_ENST00000527598.1_Silent_p.R1060R|ARHGAP20_ENST00000529591.1_Silent_p.R639R|ARHGAP20_ENST00000357139.3_Silent_p.R1070R|ARHGAP20_ENST00000524756.1_Silent_p.R1073R	p.R1096R	NM_020809.3	NP_065860.2	Q9P2F6	RHG20_HUMAN		Epithelial(105;3.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|all cancers(92;0.000147)|OV - Ovarian serous cystadenocarcinoma(223;0.0475)	16	3572	-		all_cancers(61;3.26e-12)|all_epithelial(67;6.09e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000484)|Acute lymphoblastic leukemia(157;0.000967)|all_neural(223;0.0199)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)	1096					A8K8C5|B0YIW7|B0YIW8|Q6RJU1|Q6RJU2|Q6RJU3|Q6RJU5|Q8IXS1	Silent	SNP	ENST00000260283.4	37	c.3288G>A	CCDS31673.1																																																																																				0.522	ARHGAP20-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390628.1	NM_020809		4	139	0	0	0	0.150653	0	4	139					T	110450382	C	T	110450382	2	4	151	1	0	0	0	0	0	0	0	1	870	622	22	3		3	ARHGAP20	11	110450382	Silent	SNP	C	TCGA-G9-6336-01A-11D-1786-08		110450382	24556134	15	7411											
PANX3	116337	broad.mit.edu	37	chr11	124481615	124481615	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctgatgtccctggcattcGcccaggagttctcctctggt	4	13	11	13	1	2	1	0	1	2	0	5	2	3	2	3	3	1	3	3	3	0	2	rs142639637	byFrequency	TCGA-G9-6336-01A-11D-1786-08	TCGA-G9-6336-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab318624-db9d-41d8-b7b8-34712434f28f	aefe7099-96e0-481c-bbfe-1566024df395	g.chr11:124481615G>A	ENST00000284288.2	+	1	230	c.163G>A	c.(163-165)Gcc>Acc	p.A55T		NM_052959.2	NP_443191.1	Q96QZ0	PANX3_HUMAN	pannexin 3	55					cell-cell signaling (GO:0007267)|ion transport (GO:0006811)|protein hexamerization (GO:0034214)|transmembrane transport (GO:0055085)	gap junction (GO:0005921)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	gap junction hemi-channel activity (GO:0055077)	p.A55T(2)		NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(10)|prostate(2)|skin(2)|urinary_tract(1)	26	all_hematologic(175;0.215)	Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0219)		CCTGGCATTCGCCCAGGAGTT	0.587													G|||	10	0.00199681	0.0076	0	5008	,	,		15784	0		0	False		,,,				2504	0					ENST00000284288.2																			2	Substitution - Missense(2)	p.A55T(2)	large_intestine(1)|prostate(1)	NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(10)|prostate(2)|skin(2)|urinary_tract(1)	26						c.(163-165)Gcc>Acc		pannexin 3		G	THR/ALA	37,4365	42.3+/-75.8	1,35,2165	84	87	86		163	4.8	1	11	dbSNP_134	86	0,8598		0,0,4299	yes	missense	PANX3	NM_052959.2	58	1,35,6464	AA,AG,GG		0.0,0.8405,0.2846	probably-damaging	55/393	124481615	37,12963	2201	4299	6500	SO:0001583	missense	116337				protein hexamerization	gap junction|integral to membrane	gap junction hemi-channel activity|ion channel activity	g.chr11:124481615G>A	AF406650	CCDS8447.1	11q24.2	2011-12-02			ENSG00000154143	ENSG00000154143		"Ion channels / Pannexins"	20573	protein-coding gene	gene with protein product		608422					Standard	NM_052959		Approved	Px3	uc001qah.3	Q96QZ0	OTTHUMG00000165925	ENST00000284288.2:c.163G>A	11.37:g.124481615G>A	ENSP00000284288:p.Ala55Thr						p.A55T	NM_052959.2	NP_443191.1	Q96QZ0	PANX3_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0219)	1	230	+	all_hematologic(175;0.215)	Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	55						Missense_Mutation	SNP	ENST00000284288.2	37	c.163G>A	CCDS8447.1	4	0.0018315018315018315	4	0.008130081300813009	0	0.0	0	0.0	0	0.0	G	25.4	4.635799	0.87760	0.008405	0.0	ENSG00000154143	ENST00000284288	T	0.38887	1.11	4.78	4.78	0.61160	.	0.051343	0.85682	D	0.000000	T	0.51312	0.1667	L	0.50333	1.59	0.58432	D	0.999995	D	0.89917	1.0	D	0.75020	0.985	T	0.57300	-0.7835	10	0.51188	T	0.08	-16.2529	18.0228	0.89260	0.0:0.0:1.0:0.0	.	55	Q96QZ0	PANX3_HUMAN	T	55	ENSP00000284288:A55T	ENSP00000284288:A55T	A	+	1	0	PANX3	123986825	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	9.461000	0.97646	2.476000	0.83614	0.655000	0.94253	GCC		0.587	PANX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387064.1			14	37	0	0	0	0.457914	0	14	37					A	124481615	G	A	124481615	3	1	151	1	0	0	0	0	1	0	0	0	11422	1087	38	1	165	1	PANX3	11	124481615	Missense_Mutation	SNP	G	TCGA-G9-6336-01A-11D-1786-08	14031233	124481615	10524901	16	7412											
ARID2	196528	broad.mit.edu	37	chr12	46243943	46243943	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggtgttcatactgtggcacaAactgtttcaagaattccaca	12	12	8	9	0	2	1	2	0	0	1	3	1	3	1	1	2	2	3	1	2	4	4			TCGA-G9-6336-01A-11D-1786-08	TCGA-G9-6336-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab318624-db9d-41d8-b7b8-34712434f28f	aefe7099-96e0-481c-bbfe-1566024df395	g.chr12:46243943A>T	ENST00000334344.6	+	15	2209	c.2037A>T	c.(2035-2037)caA>caT	p.Q679H	ARID2_ENST00000422737.1_Missense_Mutation_p.Q530H|ARID2_ENST00000457135.1_5'Flank|ARID2_ENST00000479608.1_3'UTR|ARID2_ENST00000444670.1_Missense_Mutation_p.Q289H	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	679					chromatin modification (GO:0016568)|nucleosome disassembly (GO:0006337)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.Q679H(1)		NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		CTGTGGCACAAACTGTTTCAA	0.413			"N, S, F"		hepatocellular carcinoma																																	ENST00000334344.6				Rec	yes		12	12q12	196528	"N, S, F"	AT rich interactive domain 2			E			hepatocellular carcinoma		1	Substitution - Missense(1)	p.Q679H(1)	prostate(1)	NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116						c.(2035-2037)caA>caT		AT rich interactive domain 2 (ARID, RFX-like)							146	140	142					12																	46243943		2203	4300	6503	SO:0001583	missense	196528				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr12:46243943A>T		CCDS31783.1	12q13.11	2013-02-07			ENSG00000189079	ENSG00000189079		"-"	18037	protein-coding gene	gene with protein product		609539					Standard	NM_152641		Approved	KIAA1557, DKFZp686G052, FLJ30619, BAF200	uc001ros.1	Q68CP9	OTTHUMG00000150487	ENST00000334344.6:c.2037A>T	12.37:g.46243943A>T	ENSP00000335044:p.Gln679His					ARID2_ENST00000479608.1_3'UTR|ARID2_ENST00000444670.1_Missense_Mutation_p.Q289H|ARID2_ENST00000422737.1_Missense_Mutation_p.Q530H	p.Q679H	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)	15	2209	+	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	679					Q15KG9|Q5EB51|Q645I3|Q6ZRY5|Q7Z3I5|Q86T28|Q96SJ6|Q9HCL5	Missense_Mutation	SNP	ENST00000334344.6	37	c.2037A>T	CCDS31783.1	.	.	.	.	.	.	.	.	.	.	A	16.29	3.080461	0.55753	.	.	ENSG00000189079	ENST00000334344;ENST00000422737;ENST00000444670	T	0.32515	1.45	5.95	3.94	0.45596	.	0.325040	0.32002	N	0.006735	T	0.39306	0.1073	L	0.29908	0.895	0.80722	D	1	D;D;D	0.64830	0.994;0.994;0.992	D;D;D	0.78314	0.991;0.991;0.976	T	0.18871	-1.0323	10	0.54805	T	0.06	-3.6635	8.9844	0.35986	0.2514:0.0:0.7486:0.0	.	679;289;679	Q68CP9-3;F8W108;Q68CP9	.;.;ARID2_HUMAN	H	679;530;289	ENSP00000335044:Q679H	ENSP00000335044:Q679H	Q	+	3	2	ARID2	44530210	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.209000	0.32357	1.331000	0.45412	-0.408000	0.06270	CAA		0.413	ARID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318380.2	XM_350875		17	125	0	0	0	0.500413	0	17	125					T	46243943	A	T	46243943	3	4	151	1	0	0	0	0	1	0	0	0	915	11	1	5	2095	5	ARID2	12	46243943	Missense_Mutation	SNP	A	TCGA-G9-6336-01A-11D-1786-08		46243943	87607952	17	7413											
EP400	57634	broad.mit.edu	37	chr12	132547141	132547141	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagcagcagcagcagcaacaGcagcagcagcaacagacgac	16	0	11	14	1	0	1	0	0	0	1	0	2	0	1	0	0	11	9	0	0	2	0			TCGA-G9-6336-01A-11D-1786-08	TCGA-G9-6336-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab318624-db9d-41d8-b7b8-34712434f28f	aefe7099-96e0-481c-bbfe-1566024df395	g.chr12:132547141G>A	ENST00000333577.4	+	48	8446	c.8337G>A	c.(8335-8337)caG>caA	p.Q2779Q	EP400_ENST00000332482.4_Silent_p.Q2706Q|EP400_ENST00000330386.6_Silent_p.Q2662Q|EP400_ENST00000389561.2_Silent_p.Q2743Q|EP400_ENST00000389562.2_Silent_p.Q2742Q			Q96L91	EP400_HUMAN	E1A binding protein p400	2779	Interaction with ZNF42. {ECO:0000250}.|Poly-Gln.				chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)	p.Q2742Q(2)		NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		agcagcaacagcagcagcagc	0.597																																						ENST00000333577.4																			2	Substitution - coding silent(2)	p.Q2742Q(2)	kidney(2)	NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161						c.(8335-8337)caG>caA		E1A binding protein p400							52	42	46					12																	132547141		2203	4300	6503	SO:0001819	synonymous_variant	57634				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	g.chr12:132547141G>A	U80743	CCDS31929.1, CCDS31929.2	12q24.33	2008-02-01	2002-02-05	2002-02-08		ENSG00000183495			11958	protein-coding gene	gene with protein product		606265	"trinucleotide repeat containing 12"	TNRC12		9225980, 11509179	Standard	NM_015409		Approved	CAGH32, KIAA1498, P400, KIAA1818, DKFZP434I225	uc001ujn.3	Q96L91		ENST00000333577.4:c.8337G>A	12.37:g.132547141G>A						EP400_ENST00000330386.6_Silent_p.Q2662Q|EP400_ENST00000389561.2_Silent_p.Q2743Q|EP400_ENST00000389562.2_Silent_p.Q2742Q|EP400_ENST00000332482.4_Silent_p.Q2706Q	p.Q2779Q			Q96L91	EP400_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)	48	8446	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)	2779			Interaction with ZNF42 (By similarity).|Poly-Gln.		O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	Silent	SNP	ENST00000333577.4	37	c.8337G>A																																																																																					0.597	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015409		3	69	0	0	0	0.184627	0	3	69					A	132547141	G	A	132547141	2	1	151	1	0	0	0	0	0	0	0	1	5149	962	34	3		3	EP400	12	132547141	Silent	SNP	G	TCGA-G9-6336-01A-11D-1786-08	86303198	132547141	1304754	18	7414											
RCBTB2	1102	broad.mit.edu	37	chr13	49076874	49076874	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcttacccacggagaggaggCgccacgtgacggcgggcgtg	7	4	18	12	6	0	2	0	1	0	1	0	4	0	3	2	5	1	1	2	5	1	1			TCGA-G9-6336-01A-11D-1786-08	TCGA-G9-6336-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab318624-db9d-41d8-b7b8-34712434f28f	aefe7099-96e0-481c-bbfe-1566024df395	g.chr13:49076874C>A	ENST00000344532.3	-	11	1526	c.1103G>T	c.(1102-1104)cGc>cTc	p.R368L	RCBTB2_ENST00000430805.2_Missense_Mutation_p.R373L|RCBTB2_ENST00000544492.1_Missense_Mutation_p.R94L	NM_001268.2	NP_001259.1	O95199	RCBT2_HUMAN	regulator of chromosome condensation (RCC1) and BTB (POZ) domain containing protein 2	368					positive regulation of Ran GTPase activity (GO:0032853)	acrosomal vesicle (GO:0001669)	Ran guanyl-nucleotide exchange factor activity (GO:0005087)	p.R368L(1)		breast(5)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|prostate(3)|skin(3)	31		all_cancers(8;4.86e-71)|all_epithelial(8;2.11e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;2.3e-10)|Lung NSC(96;1.07e-07)|Breast(56;1.53e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.00826)|Myeloproliferative disorder(33;0.0179)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(99;1.8e-09)|LUSC - Lung squamous cell carcinoma(3;0.116)		GGAGAGGAGGCGCCACGTGAC	0.577																																						ENST00000344532.3																			1	Substitution - Missense(1)	p.R368L(1)	prostate(1)	breast(5)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|prostate(3)|skin(3)	31						c.(1102-1104)cGc>cTc		regulator of chromosome condensation (RCC1) and BTB (POZ) domain containing protein 2							63	59	60					13																	49076874		2203	4300	6503	SO:0001583	missense	1102						Ran guanyl-nucleotide exchange factor activity	g.chr13:49076874C>A	AF060219	CCDS9411.1, CCDS73570.1, CCDS73571.1, CCDS73572.1	13q14.3	2013-01-08	2005-05-09	2005-05-09	ENSG00000136161	ENSG00000136161		"BTB/POZ domain containing"	1914	protein-coding gene	gene with protein product		603524	"chromosome condensation 1-like"	CHC1L		9806834	Standard	XM_005266242		Approved		uc001vch.3	O95199	OTTHUMG00000016902	ENST00000344532.3:c.1103G>T	13.37:g.49076874C>A	ENSP00000345144:p.Arg368Leu					RCBTB2_ENST00000544492.1_Missense_Mutation_p.R94L|RCBTB2_ENST00000430805.2_Missense_Mutation_p.R373L	p.R368L	NM_001268.2	NP_001259.1	O95199	RCBT2_HUMAN		GBM - Glioblastoma multiforme(99;1.8e-09)|LUSC - Lung squamous cell carcinoma(3;0.116)	11	1526	-		all_cancers(8;4.86e-71)|all_epithelial(8;2.11e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;2.3e-10)|Lung NSC(96;1.07e-07)|Breast(56;1.53e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.00826)|Myeloproliferative disorder(33;0.0179)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)	368					B2RDW8	Missense_Mutation	SNP	ENST00000344532.3	37	c.1103G>T	CCDS9411.1	.	.	.	.	.	.	.	.	.	.	C	16.20	3.056708	0.55325	.	.	ENSG00000136161	ENST00000344532;ENST00000450343;ENST00000452987;ENST00000430805;ENST00000544492	T;T;T	0.75367	-0.02;-0.02;-0.93	5.59	5.59	0.84812	BTB/POZ fold (1);	0.043805	0.85682	D	0.000000	D	0.83741	0.5320	M	0.73598	2.24	0.80722	D	1	D;P;P;P	0.54772	0.968;0.802;0.91;0.802	P;P;P;P	0.55112	0.769;0.666;0.492;0.489	D	0.84182	0.0440	10	0.54805	T	0.06	.	19.956	0.97218	0.0:1.0:0.0:0.0	.	94;373;320;368	B4E372;B4DWG0;B3KVB1;O95199	.;.;.;RCBT2_HUMAN	L	368;320;373;373;94	ENSP00000345144:R368L;ENSP00000389910:R373L;ENSP00000443862:R94L	ENSP00000345144:R368L	R	-	2	0	RCBTB2	47974875	1.000000	0.71417	1.000000	0.80357	0.331000	0.28603	4.525000	0.60559	2.788000	0.95919	0.557000	0.71058	CGC		0.577	RCBTB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044888.2	NM_001268		15	106	1	0	5.3912e-06	0.539581	6.37142e-06	15	106					A	49076874	C	A	49076874	3	1	151	1	0	0	0	0	1	0	0	0	13172	768	27	5	572	5	RCBTB2	13	49076874	Missense_Mutation	SNP	C	TCGA-G9-6336-01A-11D-1786-08		49076874	66093004	19	7415											
RASA3	22821	broad.mit.edu	37	chr13	114780695	114780695	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggcactcaccctggaagcgCttggccgccgcctcccggag	5	5	14	17	4	1	0	1	0	0	0	2	2	2	2	5	4	1	2	5	4	1	1			TCGA-G9-6336-01A-11D-1786-08	TCGA-G9-6336-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab318624-db9d-41d8-b7b8-34712434f28f	aefe7099-96e0-481c-bbfe-1566024df395	g.chr13:114780695C>T	ENST00000334062.7	-	14	1516	c.1395G>A	c.(1393-1395)aaG>aaA	p.K465K	RASA3_ENST00000389544.4_Silent_p.K433K	NM_007368.2	NP_031394.2	Q14644	RASA3_HUMAN	RAS p21 protein activator 3	465	Ras-GAP. {ECO:0000255|PROSITE- ProRule:PRU00167}.				calcium ion transmembrane transport (GO:0070588)|intracellular signal transduction (GO:0035556)|negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	calcium-release channel activity (GO:0015278)|GTPase activator activity (GO:0005096)|metal ion binding (GO:0046872)|Ras GTPase activator activity (GO:0005099)	p.K465K(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(20)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	47	Lung NSC(43;0.00814)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.016)|all_epithelial(44;0.00577)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.188)	BRCA - Breast invasive adenocarcinoma(86;0.128)			CCTGGAAGCGCTTGGCCGCCG	0.627																																						ENST00000334062.7																			1	Substitution - coding silent(1)	p.K465K(1)	prostate(1)	breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(20)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	47						c.(1393-1395)aaG>aaA		RAS p21 protein activator 3							89	88	88					13																	114780695		2202	4300	6502	SO:0001819	synonymous_variant	22821				intracellular signal transduction|negative regulation of Ras protein signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	calcium-release channel activity|metal ion binding|Ras GTPase activator activity	g.chr13:114780695C>T		CCDS32016.1	13q34	2013-01-10			ENSG00000185989	ENSG00000185989		"Pleckstrin homology (PH) domain containing"	20331	protein-coding gene	gene with protein product		605182				7637787, 9382842	Standard	NM_007368		Approved	GAP1IP4BP, GAPIII	uc001vui.3	Q14644	OTTHUMG00000017399	ENST00000334062.7:c.1395G>A	13.37:g.114780695C>T						RASA3_ENST00000389544.4_Silent_p.K433K	p.K465K	NM_007368.2	NP_031394.2	Q14644	RASA3_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.128)		14	1516	-	Lung NSC(43;0.00814)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.016)|all_epithelial(44;0.00577)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.188)	465			Ras-GAP.		A6NL15|F8W6X8|Q8IUY2	Silent	SNP	ENST00000334062.7	37	c.1395G>A	CCDS32016.1																																																																																				0.627	RASA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045957.2	NM_007368		5	145	0	0	0	0.184627	0	5	145					T	114780695	C	T	114780695	2	4	151	1	0	0	0	0	0	0	0	1	13062	796	28	3		3	RASA3	13	114780695	Silent	SNP	C	TCGA-G9-6336-01A-11D-1786-08	65703821	114780695	389183	20	7416											
RASGRF1	5923	broad.mit.edu	37	chr15	79291122	79291122	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cacgattggtggctgctctgCggatcacaaactccttgtct	7	12	10	12	2	3	0	1	0	2	0	4	2	4	1	1	3	3	2	1	3	1	2			TCGA-G9-6336-01A-11D-1786-08	TCGA-G9-6336-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab318624-db9d-41d8-b7b8-34712434f28f	aefe7099-96e0-481c-bbfe-1566024df395	g.chr15:79291122C>A	ENST00000419573.3	-	19	3114	c.2840G>T	c.(2839-2841)cGc>cTc	p.R947L	RASGRF1_ENST00000394745.3_Missense_Mutation_p.R163L|RASGRF1_ENST00000558480.2_Missense_Mutation_p.R931L|RASGRF1_ENST00000560334.1_5'UTR	NM_002891.4	NP_002882.3	Q13972	RGRF1_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 1	947					activation of Rac GTPase activity (GO:0032863)|cell proliferation (GO:0008283)|long-term memory (GO:0007616)|neuron projection development (GO:0031175)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Ras protein signal transduction (GO:0046579)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of neuronal synaptic plasticity (GO:0048168)|regulation of Rac protein signal transduction (GO:0035020)|regulation of Ras protein signal transduction (GO:0046578)|regulation of synaptic plasticity (GO:0048167)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|growth cone (GO:0030426)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.R947L(1)		breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						GGCTGCTCTGCGGATCACAAA	0.612																																						ENST00000419573.3																			1	Substitution - Missense(1)	p.R947L(1)	prostate(1)	breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						c.(2839-2841)cGc>cTc		Ras protein-specific guanine nucleotide-releasing factor 1							117	108	111					15																	79291122		2196	4293	6489	SO:0001583	missense	5923				activation of Rac GTPase activity|apoptosis|induction of apoptosis by extracellular signals|long-term memory|nerve growth factor receptor signaling pathway|neuron projection development|regulation of Rac protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|growth cone|plasma membrane|synaptosome	Rho guanyl-nucleotide exchange factor activity	g.chr15:79291122C>A	M91815	CCDS10309.1, CCDS42065.1, CCDS45320.1	15q24	2013-01-10			ENSG00000058335	ENSG00000058335		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	9875	protein-coding gene	gene with protein product		606600		GRF1		7684828, 1379731	Standard	NM_153815		Approved	CDC25L, CDC25, GRF55, H-GRF55, GNRP, PP13187	uc002beq.3	Q13972	OTTHUMG00000144172	ENST00000419573.3:c.2840G>T	15.37:g.79291122C>A	ENSP00000405963:p.Arg947Leu					RASGRF1_ENST00000394745.3_Missense_Mutation_p.R163L|RASGRF1_ENST00000558480.2_Missense_Mutation_p.R931L|RASGRF1_ENST00000560334.1_5'UTR	p.R947L	NM_002891.4	NP_002882.3	Q13972	RGRF1_HUMAN			19	3114	-			949					F8VPA5|H0YKF2|J3KQP9|Q16027	Missense_Mutation	SNP	ENST00000419573.3	37	c.2840G>T	CCDS10309.1	.	.	.	.	.	.	.	.	.	.	C	17.69	3.451215	0.63290	.	.	ENSG00000058335	ENST00000419573;ENST00000394741;ENST00000394745	T;T	0.27256	1.68;1.68	4.74	3.81	0.43845	Ras guanine nucleotide exchange factor, domain (1);Ras-like guanine nucleotide exchange factor, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.31482	0.0798	M	0.77103	2.36	0.58432	D	0.999992	P;B;B;B	0.38223	0.623;0.052;0.366;0.168	B;B;B;B	0.38954	0.286;0.048;0.087;0.104	T	0.09640	-1.0665	10	0.30854	T	0.27	.	12.1452	0.54020	0.1719:0.828:0.0:0.0	.	343;931;949;931	B7Z6Z6;Q8IUU5;Q13972;F8VPA5	.;.;RGRF1_HUMAN;.	L	947;931;163	ENSP00000405963:R947L;ENSP00000378228:R163L	ENSP00000378224:R931L	R	-	2	0	RASGRF1	77078177	1.000000	0.71417	0.995000	0.50966	0.979000	0.70002	4.429000	0.59901	1.166000	0.42689	0.591000	0.81541	CGC		0.612	RASGRF1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000291371.3	NM_002891		13	69	1	0	4.3838e-07	0.435327	5.34276e-07	13	69					A	79291122	C	A	79291122	3	1	151	1	0	0	0	0	1	0	0	0	13072	768	27	5	1021	5	RASGRF1	15	79291122	Missense_Mutation	SNP	C	TCGA-G9-6336-01A-11D-1786-08		79291122	23240270	21	7417											
PSMD7	5713	broad.mit.edu	37	chr16	74336163	74336163	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctagggctgcctacagaagcGtacatttcagtggaagaagt	12	9	12	8	1	1	2	1	0	0	2	1	3	1	3	1	2	4	2	1	2	6	4			TCGA-G9-6336-01A-11D-1786-08	TCGA-G9-6336-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab318624-db9d-41d8-b7b8-34712434f28f	aefe7099-96e0-481c-bbfe-1566024df395	g.chr16:74336163G>A	ENST00000219313.4	+	5	551	c.411G>A	c.(409-411)gcG>gcA	p.A137A	PSMD7_ENST00000567958.1_Silent_p.A137A|PSMD7_ENST00000540379.1_Silent_p.A60A|AC009120.6_ENST00000566411.1_RNA|PSMD7_ENST00000568615.2_Silent_p.A137A|AC009120.6_ENST00000565313.1_RNA	NM_002811.4	NP_002802.2	P51665	PSMD7_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 7	137					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome complex (GO:0000502)|proteasome regulatory particle (GO:0005838)	protein homodimerization activity (GO:0042803)	p.A137A(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(6)|prostate(1)	15						CTACAGAAGCGTACATTTCAG	0.433																																						ENST00000219313.4																			1	Substitution - coding silent(1)	p.A137A(1)	prostate(1)	breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(6)|prostate(1)	15						c.(409-411)gcG>gcA		proteasome (prosome, macropain) 26S subunit, non-ATPase, 7							166	148	154					16																	74336163		2198	4300	6498	SO:0001819	synonymous_variant	5713				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome regulatory particle	protein binding	g.chr16:74336163G>A	D50063	CCDS10910.1	16q22.3	2010-10-15	2007-07-06		ENSG00000103035	ENSG00000103035		"Proteasome (prosome, macropain) subunits"	9565	protein-coding gene	gene with protein product	"Mov34 homolog"	157970	"proteasome (prosome, macropain) 26S subunit, non-ATPase, 7 (Mov34 homolog)"			7755639	Standard	NM_002811		Approved	S12, P40, MOV34, Rpn8	uc002fcq.3	P51665	OTTHUMG00000137601	ENST00000219313.4:c.411G>A	16.37:g.74336163G>A						PSMD7_ENST00000540379.1_Silent_p.A60A|PSMD7_ENST00000567958.1_Silent_p.A137A|PSMD7_ENST00000568615.2_Silent_p.A137A	p.A137A	NM_002811.4	NP_002802.2	P51665	PSD7_HUMAN			5	551	+			137					D3DWS9|Q6PKI2|Q96E97	Silent	SNP	ENST00000219313.4	37	c.411G>A	CCDS10910.1																																																																																				0.433	PSMD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269010.2	NM_002811		11	116	0	0	0	0.411799	0	11	116					A	74336163	G	A	74336163	2	1	151	1	0	0	0	0	0	0	0	1	12703	1132	40	1		1	PSMD7	16	74336163	Silent	SNP	G	TCGA-G9-6336-01A-11D-1786-08		74336163	16018590	22	7418											
COL1A1	1277	broad.mit.edu	37	chr17	48270010	48270010	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgaggcctcacctggaatccGggggagccagcagggccttg	7	6	16	12	1	1	1	1	1	0	0	2	3	2	3	5	5	2	1	5	5	1	1			TCGA-G9-6336-01A-11D-1786-08	TCGA-G9-6336-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab318624-db9d-41d8-b7b8-34712434f28f	aefe7099-96e0-481c-bbfe-1566024df395	g.chr17:48270010G>A	ENST00000225964.5	-	28	2038	c.1920C>T	c.(1918-1920)ccC>ccT	p.P640P		NM_000088.3	NP_000079	P02452	CO1A1_HUMAN	collagen, type I, alpha 1	640	Triple-helical region.				blood coagulation (GO:0007596)|blood vessel development (GO:0001568)|bone trabecula formation (GO:0060346)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|cellular response to amino acid stimulus (GO:0071230)|cellular response to mechanical stimulus (GO:0071260)|cellular response to retinoic acid (GO:0071300)|cellular response to transforming growth factor beta stimulus (GO:0071560)|collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|embryonic skeletal system development (GO:0048706)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|face morphogenesis (GO:0060325)|intramembranous ossification (GO:0001957)|leukocyte migration (GO:0050900)|negative regulation of cell-substrate adhesion (GO:0010812)|osteoblast differentiation (GO:0001649)|platelet activation (GO:0030168)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of transcription, DNA-templated (GO:0045893)|protein heterotrimerization (GO:0070208)|protein localization to nucleus (GO:0034504)|protein transport (GO:0015031)|response to cAMP (GO:0051591)|response to corticosteroid (GO:0031960)|response to estradiol (GO:0032355)|response to hydrogen peroxide (GO:0042542)|response to nutrient (GO:0007584)|response to peptide hormone (GO:0043434)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|skin morphogenesis (GO:0043589)|tooth mineralization (GO:0034505)|visual perception (GO:0007601)	collagen type I trimer (GO:0005584)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	extracellular matrix structural constituent (GO:0005201)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)	p.P640P(1)	COL1A1/PDGFB(429)	NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	71					Collagenase(DB00048)	CCTGGAATCCGGGGGAGCCAG	0.602			T	"PDGFB, USP6"	"dermatofibrosarcoma protuberans, aneurysmal bone cyst "		Osteogenesis imperfecta																															ENST00000225964.5				Dom	yes		17	17q21.31-q22	1277	T	"collagen, type I, alpha 1"	yes	Osteogenesis imperfecta	M	"PDGFB, USP6"		"dermatofibrosarcoma protuberans, aneurysmal bone cyst "	COL1A1/PDGFB(429)	1	Substitution - coding silent(1)	p.P640P(1)	prostate(1)	NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	71						c.(1918-1920)ccC>ccT		collagen, type I, alpha 1	Collagenase(DB00048)|Palifermin(DB00039)						89	104	99					17																	48270010		2203	4300	6503	SO:0001819	synonymous_variant	1277				axon guidance|blood vessel development|collagen biosynthetic process|collagen fibril organization|embryonic skeletal system development|leukocyte migration|platelet activation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|protein localization to nucleus|sensory perception of sound|skin morphogenesis|tooth mineralization|visual perception	collagen type I|extracellular space|plasma membrane	identical protein binding|platelet-derived growth factor binding	g.chr17:48270010G>A	Z74615	CCDS11561.1	17q21.33	2014-09-17			ENSG00000108821	ENSG00000108821		"Collagens"	2197	protein-coding gene	gene with protein product		120150				3178743, 2857713	Standard	NM_000088		Approved	OI4	uc002iqm.3	P02452	OTTHUMG00000148674	ENST00000225964.5:c.1920C>T	17.37:g.48270010G>A							p.P640P	NM_000088.3	NP_000079.2	P02452	CO1A1_HUMAN			28	2038	-			640			Triple-helical region.		O76045|P78441|Q13896|Q13902|Q13903|Q14037|Q14992|Q15176|Q15201|Q16050|Q59F64|Q7KZ30|Q7KZ34|Q8IVI5|Q8N473|Q9UML6|Q9UMM7	Silent	SNP	ENST00000225964.5	37	c.1920C>T	CCDS11561.1																																																																																				0.602	COL1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309036.2			19	166	0	0	0	0.575678	0	19	166					A	48270010	G	A	48270010	2	1	151	1	0	0	0	0	0	0	0	1	3677	1103	39	2		2	COL1A1	17	48270010	Silent	SNP	G	TCGA-G9-6336-01A-11D-1786-08		48270010	32925200	23	7419											
ZNF585B	92285	broad.mit.edu	37	chr19	37677246	37677246	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatgaattctctgatgcactGtgagtgctgacttctgagtg	8	15	11	7	0	2	5	0	5	2	0	3	5	2	5	0	0	2	2	0	0	2	3			TCGA-G9-6336-01A-11D-1786-08	TCGA-G9-6336-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab318624-db9d-41d8-b7b8-34712434f28f	aefe7099-96e0-481c-bbfe-1566024df395	g.chr19:37677246G>C	ENST00000532828.2	-	5	1444	c.1193C>G	c.(1192-1194)aCa>aGa	p.T398R	ZNF585B_ENST00000312908.5_5'UTR|ZNF585B_ENST00000531805.1_Missense_Mutation_p.T343R|CTC-454I21.3_ENST00000585860.2_Intron|ZNF585B_ENST00000527838.1_3'UTR	NM_152279.3	NP_689492.3	Q52M93	Z585B_HUMAN	zinc finger protein 585B	398					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.T398R(1)		NS(1)|breast(3)|endometrium(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)	29			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			CTGATGCACTGTGAGTGCTGA	0.413																																					Melanoma(93;882 1454 18863 28917 48427)	ENST00000532828.2																			1	Substitution - Missense(1)	p.T398R(1)	prostate(1)	NS(1)|breast(3)|endometrium(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)	29						c.(1192-1194)aCa>aGa		zinc finger protein 585B							105	99	101					19																	37677246		2203	4300	6503	SO:0001583	missense	92285				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	g.chr19:37677246G>C	AK027834	CCDS12500.1	19q13.13	2013-01-08				ENSG00000245680		"Zinc fingers, C2H2-type", "-"	30948	protein-coding gene	gene with protein product						12477932	Standard	NM_152279		Approved	FLJ14928, SZFP41	uc002ofq.3	Q52M93		ENST00000532828.2:c.1193C>G	19.37:g.37677246G>C	ENSP00000433773:p.Thr398Arg					CTC-454I21.3_ENST00000585860.2_Intron|ZNF585B_ENST00000531805.1_Missense_Mutation_p.T343R|ZNF585B_ENST00000527838.1_3'UTR|ZNF585B_ENST00000312908.5_5'UTR	p.T398R	NM_152279.3	NP_689492.3	Q52M93	Z585B_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		5	1444	-			398					Q8IZD3|Q96JW6	Missense_Mutation	SNP	ENST00000532828.2	37	c.1193C>G	CCDS12500.1	.	.	.	.	.	.	.	.	.	.	G	10.24	1.296244	0.23650	.	.	ENSG00000245680	ENST00000531805;ENST00000532828	T;T	0.35973	1.28;3.15	2.74	1.66	0.24008	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.38663	N	0.001614	T	0.24236	0.0587	N	0.11560	0.145	0.29119	N	0.880395	P;D	0.69078	0.894;0.997	B;P	0.52856	0.273;0.711	T	0.11916	-1.0568	10	0.23302	T	0.38	.	7.3754	0.26825	0.1439:0.0:0.8561:0.0	.	343;398	E9PQH3;Q52M93	.;Z585B_HUMAN	R	343;398	ENSP00000436774:T343R;ENSP00000433773:T398R	ENSP00000436774:T343R	T	-	2	0	ZNF585B	42369086	0.000000	0.05858	0.992000	0.48379	0.984000	0.73092	-0.611000	0.05622	0.461000	0.27071	0.455000	0.32223	ACA		0.413	ZNF585B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388272.2	NM_152279		3	91	0	0	0	0.115264	0	3	91					C	37677246	G	C	37677246	3	2	151	1	0	0	0	0	1	0	0	0	18015	1377	48	5	1120	5	ZNF585B	19	37677246	Missense_Mutation	SNP	G	TCGA-G9-6336-01A-11D-1786-08		37677246	21451737	24	7420											
DSN1	79980	broad.mit.edu	37	chr20	35399437	35399437	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttcctggtggctgagatcaCaatttcccccttttttaggg	6	16	9	10	0	1	1	1	1	0	1	3	2	3	1	3	3	0	1	3	3	2	5			TCGA-G9-6336-01A-11D-1786-08	TCGA-G9-6336-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab318624-db9d-41d8-b7b8-34712434f28f	aefe7099-96e0-481c-bbfe-1566024df395	g.chr20:35399437C>T	ENST00000426836.1	-	3	566	c.194G>A	c.(193-195)tGt>tAt	p.C65Y	DSN1_ENST00000373750.4_Missense_Mutation_p.C65Y|DSN1_ENST00000373745.3_Missense_Mutation_p.C65Y|DSN1_ENST00000373734.4_Intron|DSN1_ENST00000373740.3_Intron|DSN1_ENST00000473615.1_Intron|DSN1_ENST00000448110.2_Missense_Mutation_p.C49Y	NM_001145316.1	NP_001138788.1	Q9H410	DSN1_HUMAN	DSN1, MIS12 kinetochore complex component	65					chromosome segregation (GO:0007059)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	cytosol (GO:0005829)|MIS12/MIND type complex (GO:0000444)|nucleus (GO:0005634)		p.C65Y(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	16		Myeloproliferative disorder(115;0.00874)				GCTGAGATCACAATTTCCCCC	0.478																																						ENST00000426836.1																			1	Substitution - Missense(1)	p.C65Y(1)	prostate(1)	endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	16						c.(193-195)tGt>tAt		DSN1, MIS12 kinetochore complex component							141	141	141					20																	35399437		2203	4300	6503	SO:0001583	missense	79980				cell division|chromosome segregation|mitotic prometaphase	cytosol|MIS12/MIND type complex|nucleus	protein binding	g.chr20:35399437C>T	AK023408	CCDS13286.1, CCDS46596.1, CCDS46597.1	20q11.23	2013-07-03	2013-07-03	2006-11-07	ENSG00000149636	ENSG00000149636			16165	protein-coding gene	gene with protein product	"kinetochore null 3 homolog (C. elegans)"	609175	"chromosome 20 open reading frame 172", "DSN1, MIND kinetochore complex component, homolog (S. cerevisiae)"	C20orf172		16585270, 20819937	Standard	NM_001145315		Approved	dJ469A13.2, MIS13, KNL3, hKNL-3	uc002xfz.3	Q9H410	OTTHUMG00000032396	ENST00000426836.1:c.194G>A	20.37:g.35399437C>T	ENSP00000389810:p.Cys65Tyr					DSN1_ENST00000448110.1_Missense_Mutation_p.C49Y|DSN1_ENST00000373734.4_Intron|DSN1_ENST00000373740.3_Intron|DSN1_ENST00000373745.3_Missense_Mutation_p.C65Y|DSN1_ENST00000373750.4_Missense_Mutation_p.C65Y|DSN1_ENST00000473615.1_Intron	p.C65Y	NM_001145316.1	NP_001138788.1	Q9H410	DSN1_HUMAN			3	566	-		Myeloproliferative disorder(115;0.00874)	65					B4DWT2|E1P5U9|Q5JW55|Q5JW56|Q9H8P4	Missense_Mutation	SNP	ENST00000426836.1	37	c.194G>A	CCDS13286.1	.	.	.	.	.	.	.	.	.	.	c	3.144	-0.175701	0.06421	.	.	ENSG00000149636	ENST00000426836;ENST00000373745;ENST00000448110;ENST00000373750;ENST00000449595;ENST00000447406	.	.	.	5.11	0.768	0.18487	.	1.006700	0.07978	N	0.985140	T	0.23171	0.0560	L	0.29908	0.895	0.20196	N	0.999922	B	0.02656	0.0	B	0.01281	0.0	T	0.28299	-1.0048	9	0.02654	T	1	-6.0337	3.85	0.08951	0.0:0.5146:0.1816:0.3038	.	65	Q9H410	DSN1_HUMAN	Y	65;65;49;65;49;65	.	ENSP00000362850:C65Y	C	-	2	0	DSN1	34832851	0.394000	0.25246	0.484000	0.27391	0.365000	0.29674	0.219000	0.17641	0.320000	0.23234	-0.142000	0.14014	TGT		0.478	DSN1-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079043.2	NM_024918		11	186	0	0	0	0.38729	0	11	186					T	35399437	C	T	35399437	3	4	151	1	0	0	0	0	1	0	0	0	4780	478	17	3	912	3	DSN1	20	35399437	Missense_Mutation	SNP	C	TCGA-G9-6336-01A-11D-1786-08		35399437	27626083	25	7421											
SUSD2	56241	broad.mit.edu	37	chr22	24581177	24581177	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	gccaggcctgggaggagctgGaggatcagctgcccaacttc	8	6	15	12	0	1	0	1	0	0	0	2	4	1	4	3	5	4	2	3	5	1	1			TCGA-G9-6336-01A-11D-1786-08	TCGA-G9-6336-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab318624-db9d-41d8-b7b8-34712434f28f	aefe7099-96e0-481c-bbfe-1566024df395	g.chr22:24581177G>C	ENST00000358321.3	+	6	1159	c.898G>C	c.(898-900)Gag>Cag	p.E300Q		NM_019601.3	NP_062547.1	Q9UGT4	SUSD2_HUMAN	sushi domain containing 2	300	AMOP. {ECO:0000255|PROSITE- ProRule:PRU00347}.				immune response (GO:0006955)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)	p.E300Q(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	26						GGAGGAGCTGGAGGATCAGCT	0.672																																						ENST00000358321.3																			1	Substitution - Missense(1)	p.E300Q(1)	prostate(1)	NS(2)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	26						c.(898-900)Gag>Cag		sushi domain containing 2							28	28	28					22																	24581177		2203	4300	6503	SO:0001583	missense	56241				immune response	integral to membrane	polysaccharide binding|protein binding|scavenger receptor activity	g.chr22:24581177G>C	AK026431	CCDS13824.1	22q11-q12	2005-08-16			ENSG00000099994	ENSG00000099994			30667	protein-coding gene	gene with protein product		615825				12477932	Standard	NM_019601		Approved	BK65A6.2, FLJ22778	uc002zzn.1	Q9UGT4	OTTHUMG00000150792	ENST00000358321.3:c.898G>C	22.37:g.24581177G>C	ENSP00000351075:p.Glu300Gln						p.E300Q	NM_019601.3	NP_062547.1	Q9UGT4	SUSD2_HUMAN			6	1159	+			300			AMOP.		Q9H5Y6	Missense_Mutation	SNP	ENST00000358321.3	37	c.898G>C	CCDS13824.1	.	.	.	.	.	.	.	.	.	.	G	20.5	4.007312	0.75046	.	.	ENSG00000099994	ENST00000358321	T	0.22945	1.93	4.27	4.27	0.50696	AMOP (3);	0.182147	0.46758	D	0.000261	T	0.45074	0.1324	M	0.77820	2.39	0.36156	D	0.847772	D	0.62365	0.991	P	0.59825	0.864	T	0.55302	-0.8162	10	0.32370	T	0.25	-18.4309	12.6244	0.56622	0.0:0.0:1.0:0.0	.	300	Q9UGT4	SUSD2_HUMAN	Q	300	ENSP00000351075:E300Q	ENSP00000351075:E300Q	E	+	1	0	SUSD2	22911177	1.000000	0.71417	0.911000	0.35937	0.561000	0.35649	7.216000	0.77974	2.102000	0.63906	0.437000	0.28790	GAG		0.672	SUSD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320088.1	NM_019601		10	46	0	0	0	0.38729	0	10	46					C	24581177	G	C	24581177	3	2	151	1	0	0	0	0	1	0	0	0	15405	1175	41	5	920	5	SUSD2	22	24581177	Missense_Mutation	SNP	G	TCGA-G9-6336-01A-11D-1786-08		24581177	26723389	26	7422											
LCE2D	353141	broad.mit.edu	37	chr1	152636615	152636615	+	Frame_Shift_Del	DEL	C	C	-																															aaaaccagcagcagtgccagCcccctcccaaatgtcctccc																										TCGA-G9-6338-01A-12D-1961-08	TCGA-G9-6338-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9708a4f-76b5-4eb5-9831-a1f069096578	e152fd51-11d4-46c4-b803-1b79e8f6cf18	g.chr1:152636615delC	ENST00000368784.1	+	2	89	c.34delC	c.(34-36)cccfs	p.P14fs		NM_178430.2	NP_848517.1	Q5TA82	LCE2D_HUMAN	late cornified envelope 2D	14	Cys-rich.				keratinization (GO:0031424)					large_intestine(1)|lung(7)|prostate(2)	10	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCAGTGCCAGCCCCCTCCCAA	0.493																																						ENST00000368784.1																			0				large_intestine(1)|lung(7)|prostate(2)	10						c.(34-36)ccfs		late cornified envelope 2D							106	112	110					1																	152636615		2203	4300	6503	SO:0001589	frameshift_variant	353141				keratinization			g.chr1:152636615delC	BI670513	CCDS1018.1	1q21.3	2008-02-05	2004-10-11	2004-10-15	ENSG00000187223	ENSG00000187223		"Late cornified envelopes"	16518	protein-coding gene	gene with protein product		612612	"small proline rich-like (epidermal differentiation complex) 1A"	SPRL1A		11698679	Standard	NM_178430		Approved	LEP12	uc001fag.4	Q5TA82	OTTHUMG00000014400	ENST00000368784.1:c.34delC	1.37:g.152636615delC	ENSP00000357773:p.Pro14fs						p.P14fs	NM_178430.2	NP_848517.1	Q5TA82	LCE2D_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	89	+	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		14			Cys-rich.		A1L4M8	Frame_Shift_Del	DEL	ENST00000368784.1	37	c.34delC	CCDS1018.1																																																																																				0.493	LCE2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040058.1	NM_178430		15	145						15	145	---	---	---	---	-	152636615	C	-	152636615	7	5	152	1	0	1	0	1	0	0	0	0	8668	739	26	0	36	0	LCE2D	1	152636615	Frame_Shift_Del	DEL	C	TCGA-G9-6338-01A-12D-1961-08		152636615	96614006	1	7423											
C2orf44	80304	broad.mit.edu	37	chr2	24261454	24261454	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctgtcaagtagtccttttttCttagacaaataagagaatta	14	15	6	6	0	2	2	1	0	1	2	3	3	3	2	1	0	0	1	1	0	7	7			TCGA-G9-6338-01A-12D-1961-08	TCGA-G9-6338-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9708a4f-76b5-4eb5-9831-a1f069096578	e152fd51-11d4-46c4-b803-1b79e8f6cf18	g.chr2:24261454C>G	ENST00000295148.4	-	2	968	c.911G>C	c.(910-912)aGa>aCa	p.R304T	C2orf44_ENST00000406895.3_Missense_Mutation_p.R304T	NM_025203.2	NP_079479.1	Q9H6R7	CB044_HUMAN	chromosome 2 open reading frame 44	304									C2orf44/ALK(2)	breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	24	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GTCCTTTTTTCTTAGACAAAT	0.373			T	ALK	NSCLC																																	ENST00000295148.4				Dom	yes		2	2p23.3	80304	T	chromosome 2 open reading frame 44			E	ALK		NSCLC	C2orf44/ALK(2)	0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	24						c.(910-912)aGa>aCa		chromosome 2 open reading frame 44							60	61	60					2																	24261454		2203	4300	6503	SO:0001583	missense	80304						protein binding	g.chr2:24261454C>G	AK025598	CCDS1705.1, CCDS46229.1	2p23.3	2012-07-30			ENSG00000163026	ENSG00000163026			26157	protein-coding gene	gene with protein product						22327622	Standard	NM_025203		Approved	FLJ21945	uc002rep.2	Q9H6R7	OTTHUMG00000125498	ENST00000295148.4:c.911G>C	2.37:g.24261454C>G	ENSP00000295148:p.Arg304Thr					C2orf44_ENST00000406895.3_Missense_Mutation_p.R304T	p.R304T	NM_025203.2	NP_079479.1	Q9H6R7	CB044_HUMAN			2	968	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		304					D6W532|Q8IYK0|Q9HBP5	Missense_Mutation	SNP	ENST00000295148.4	37	c.911G>C	CCDS1705.1	.	.	.	.	.	.	.	.	.	.	C	15.48	2.846351	0.51164	.	.	ENSG00000163026	ENST00000295148;ENST00000406895	T;T	0.56103	0.48;0.48	5.6	3.39	0.38822	WD40/YVTN repeat-like-containing domain (1);	0.157288	0.56097	D	0.000021	T	0.51432	0.1674	M	0.71581	2.175	0.33505	D	0.590419	P;P	0.49358	0.923;0.923	P;P	0.46110	0.504;0.504	T	0.66744	-0.5846	10	0.87932	D	0	-7.4331	5.0358	0.14434	0.0:0.5973:0.2044:0.1983	.	304;304	Q9H6R7-2;Q9H6R7	.;CB044_HUMAN	T	304	ENSP00000295148:R304T;ENSP00000385816:R304T	ENSP00000295148:R304T	R	-	2	0	C2orf44	24114958	0.146000	0.22672	0.085000	0.20634	0.781000	0.44180	0.662000	0.25038	1.481000	0.48307	0.655000	0.94253	AGA		0.373	C2orf44-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000246825.1	NM_025203		13	54	0	0	0	0.00136819	0	13	54					G	24261454	C	G	24261454	3	3	152	1	0	0	0	0	1	0	0	0	2168	913	32	5	1266	5	C2orf44	2	24261454	Missense_Mutation	SNP	C	TCGA-G9-6338-01A-12D-1961-08		24261454	218937919	2	7424											
ZNF142	7701	broad.mit.edu	37	chr2	219505430	219505430	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttcagctggttgacccacttGcacttgtagccacactcagg	8	11	9	13	0	2	1	2	1	0	0	2	1	2	1	2	2	3	4	2	2	1	5			TCGA-G9-6338-01A-12D-1961-08	TCGA-G9-6338-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9708a4f-76b5-4eb5-9831-a1f069096578	e152fd51-11d4-46c4-b803-1b79e8f6cf18	g.chr2:219505430G>C	ENST00000449707.1	-	9	4972	c.4551C>G	c.(4549-4551)tgC>tgG	p.C1517W	ZNF142_ENST00000411696.2_Missense_Mutation_p.C1517W	NM_001105537.1	NP_001099007.1	P52746	ZN142_HUMAN	zinc finger protein 142	1517					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(7)|endometrium(7)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38		Renal(207;0.0474)		Epithelial(149;5.21e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		TGACCCACTTGCACTTGTAGC	0.493																																					Colon(170;867 1942 8995 15834 18053)	ENST00000411696.2																			0				breast(7)|endometrium(7)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38						c.(4549-4551)tgC>tgG		zinc finger protein 142							106	113	111					2																	219505430		2061	4215	6276	SO:0001583	missense	7701				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr2:219505430G>C	U09849	CCDS42817.1	2q35	2013-01-08	2006-06-13		ENSG00000115568	ENSG00000115568		"Zinc fingers, C2H2-type"	12927	protein-coding gene	gene with protein product		604083	"zinc finger protein 142 (clone pHZ-49)"				Standard	NM_001105537		Approved	KIAA0236, pHZ-49	uc002vin.4	P52746	OTTHUMG00000154736	ENST00000449707.1:c.4551C>G	2.37:g.219505430G>C	ENSP00000408643:p.Cys1517Trp					ZNF142_ENST00000449707.1_Missense_Mutation_p.C1517W	p.C1517W			P52746	ZN142_HUMAN		Epithelial(149;5.21e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	8	5330	-		Renal(207;0.0474)	1517					Q92510	Missense_Mutation	SNP	ENST00000449707.1	37	c.4551C>G	CCDS42817.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.250615	0.80135	.	.	ENSG00000115568	ENST00000449707;ENST00000411696	T;T	0.18174	2.23;2.23	5.94	5.07	0.68467	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.35770	0.0943	L	0.46157	1.445	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.08106	-1.0738	10	0.62326	D	0.03	-32.1027	15.1035	0.72303	0.0676:0.0:0.9324:0.0	.	1517;1354	P52746;A8MWU9	ZN142_HUMAN;.	W	1517	ENSP00000408643:C1517W;ENSP00000398798:C1517W	ENSP00000398798:C1517W	C	-	3	2	ZNF142	219213674	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.910000	0.87451	1.531000	0.49152	0.650000	0.86243	TGC		0.493	ZNF142-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336833.1	NM_005081		16	29	0	0	0	0.000566183	0	16	29					C	219505430	G	C	219505430	3	2	152	1	0	0	0	0	1	0	0	0	17728	1311	46	5	520	5	ZNF142	2	219505430	Missense_Mutation	SNP	G	TCGA-G9-6338-01A-12D-1961-08	195243976	219505430	23693943	3	7425											
CHDH	55349	broad.mit.edu	37	chr3	53857978	53857992	+	In_Frame_Del	DEL	CCAGGGCTCCCCGTG	CCAGGGCTCCCCGTG	-																															acccagggattgctgctgccCcagggctccccgtgccaggg																								rs200094235|rs61746180|rs557197311	byFrequency	TCGA-G9-6338-01A-12D-1961-08	TCGA-G9-6338-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9708a4f-76b5-4eb5-9831-a1f069096578	e152fd51-11d4-46c4-b803-1b79e8f6cf18	g.chr3:53857978_53857992delCCAGGGCTCCCCGTG	ENST00000315251.6	-	3	481_495	c.44_58delCACGGGGAGCCCTGG	c.(43-60)gcacggggagccctgggg>ggg	p.ARGAL15del		NM_018397.4	NP_060867.2	Q8NE62	CHDH_HUMAN	choline dehydrogenase	15					glycine betaine biosynthetic process from choline (GO:0019285)	mitochondrial inner membrane (GO:0005743)	choline dehydrogenase activity (GO:0008812)|flavin adenine dinucleotide binding (GO:0050660)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)	17		Hepatocellular(537;0.152)		BRCA - Breast invasive adenocarcinoma(193;0.000158)|KIRC - Kidney renal clear cell carcinoma(284;0.00588)|Kidney(284;0.00673)|OV - Ovarian serous cystadenocarcinoma(275;0.118)	Choline(DB00122)	TGCTGCTGCCCCAGGGCTCCCCGTGCCAGGGCTCC	0.665														3	0.000599042	0	0	5008	,	,		16626	0		0.003	False		,,,				2504	0					ENST00000315251.5																			0				NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)	17						c.(43-60)ggg>g		choline dehydrogenase	Choline(DB00122)			3,2879		1,1,1439						3.4	0.2			4	17,5595		5,7,2794	no	coding	CHDH	NM_018397.4		6,8,4233	A1A1,A1R,RR		0.3029,0.1041,0.2355				20,8474				SO:0001651	inframe_deletion	55349				alcohol metabolic process		choline dehydrogenase activity|flavin adenine dinucleotide binding	g.chr3:53857978_53857992delCCAGGGCTCCCCGTG	AJ272267	CCDS2873.1	3p21	2004-11-24			ENSG00000016391	ENSG00000016391	1.1.99.1		24288	protein-coding gene	gene with protein product							Standard	NM_018397		Approved		uc003dgz.3	Q8NE62	OTTHUMG00000158281	ENST00000315251.6:c.44_58delCACGGGGAGCCCTGG	3.37:g.53857978_53857992delCCAGGGCTCCCCGTG	ENSP00000319851:p.Ala15_Leu19del						p.ARGALG15del	NM_018397.4	NP_060867.2	Q8NE62	CHDH_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000158)|KIRC - Kidney renal clear cell carcinoma(284;0.00588)|Kidney(284;0.00673)|OV - Ovarian serous cystadenocarcinoma(275;0.118)	3	481_495	-		Hepatocellular(537;0.152)	15					Q9NY17	In_Frame_Del	DEL	ENST00000315251.6	37	c.44_58delCACGGGGAGCCCTGG	CCDS2873.1																																																																																				0.665	CHDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350567.2	NM_018397		3	4						3	4	---	---	---	---	-	53857992	CCAGGGCTCCCCGTG	-	53857978	7	5	152	1	0	1	0	1	0	0	0	0	3333	623	22	0	1754	0	CHDH	3	53857978	In_Frame_Del	DEL	CCAGGGCTCCCCGTG	TCGA-G9-6338-01A-12D-1961-08		53857978	144164452	4	7426											
PTPRG	5793	broad.mit.edu	37	chr3	62240850	62240850	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtcaaacacatcggtgagcTctattctaataaccagcatg	13	11	7	10	1	3	1	1	1	2	0	4	1	3	1	1	1	4	2	1	1	4	4			TCGA-G9-6338-01A-12D-1961-08	TCGA-G9-6338-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9708a4f-76b5-4eb5-9831-a1f069096578	e152fd51-11d4-46c4-b803-1b79e8f6cf18	g.chr3:62240850T>G	ENST00000474889.1	+	16	2896	c.2519T>G	c.(2518-2520)cTc>cGc	p.L840R	PTPRG_ENST00000295874.10_Missense_Mutation_p.L811R	NM_002841.3	NP_002832.3	P23470	PTPRG_HUMAN	protein tyrosine phosphatase, receptor type, G	840					brain development (GO:0007420)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of neuron projection development (GO:0010977)|peptidyl-tyrosine dephosphorylation (GO:0035335)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	identical protein binding (GO:0042802)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|liver(2)|lung(15)|ovary(7)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	62				BRCA - Breast invasive adenocarcinoma(55;0.000376)|KIRC - Kidney renal clear cell carcinoma(10;0.0499)|Kidney(10;0.065)		ATCGGTGAGCTCTATTCTAAT	0.368																																						ENST00000474889.1																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|liver(2)|lung(15)|ovary(7)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	62						c.(2518-2520)cTc>cGc		protein tyrosine phosphatase, receptor type, G							139	135	136					3																	62240850		2203	4300	6503	SO:0001583	missense	5793				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	identical protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr3:62240850T>G	L09247	CCDS2895.1	3p21-p14	2013-02-11			ENSG00000144724	ENSG00000144724		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Fibronectin type III domain containing"	9671	protein-coding gene	gene with protein product		176886		PTPG		1711217	Standard	NM_002841		Approved	RPTPG	uc003dlb.3	P23470	OTTHUMG00000158660	ENST00000474889.1:c.2519T>G	3.37:g.62240850T>G	ENSP00000418112:p.Leu840Arg					PTPRG_ENST00000295874.10_Missense_Mutation_p.L811R	p.L840R	NM_002841.3	NP_002832.3	P23470	PTPRG_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000376)|KIRC - Kidney renal clear cell carcinoma(10;0.0499)|Kidney(10;0.065)	16	2896	+			840					B2RU12|B7ZLX5|Q15623|Q59EE0|Q68DU5	Missense_Mutation	SNP	ENST00000474889.1	37	c.2519T>G	CCDS2895.1	.	.	.	.	.	.	.	.	.	.	T	20.5	3.993683	0.74703	.	.	ENSG00000144724	ENST00000474889;ENST00000295874	T;T	0.13420	2.59;2.59	5.56	5.56	0.83823	.	0.000000	0.85682	D	0.000000	T	0.28896	0.0717	L	0.46819	1.47	0.80722	D	1	B;D;D	0.76494	0.009;0.999;0.97	B;D;P	0.63113	0.006;0.911;0.618	T	0.00726	-1.1592	10	0.48119	T	0.1	.	15.7156	0.77667	0.0:0.0:0.0:1.0	.	86;811;840	B7Z3T1;P23470-2;P23470	.;.;PTPRG_HUMAN	R	840;811	ENSP00000418112:L840R;ENSP00000295874:L811R	ENSP00000295874:L811R	L	+	2	0	PTPRG	62215890	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.838000	0.69388	2.121000	0.65114	0.528000	0.53228	CTC		0.368	PTPRG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351674.1	NM_002841		34	60	0	0	0	0.000953801	0	34	60					G	62240850	T	G	62240850	3	3	152	1	0	0	0	0	1	0	0	0	12802	1551	54	5	2581	5	PTPRG	3	62240850	Missense_Mutation	SNP	T	TCGA-G9-6338-01A-12D-1961-08	8382872	62240850	135781580	5	7427											
GXYLT2	727936	broad.mit.edu	37	chr3	73016753	73016753	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cgtcccgatcactgcatgtaCggaagcaactgcagagaggc	11	6	12	12	3	1	1	1	0	0	1	2	4	2	2	1	2	5	4	1	2	3	1	rs370320248		TCGA-G9-6338-01A-12D-1961-08	TCGA-G9-6338-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9708a4f-76b5-4eb5-9831-a1f069096578	e152fd51-11d4-46c4-b803-1b79e8f6cf18	g.chr3:73016753C>T	ENST00000389617.4	+	6	1193	c.1032C>T	c.(1030-1032)taC>taT	p.Y344Y		NM_001080393.1	NP_001073862.1	A0PJZ3	GXLT2_HUMAN	glucoside xylosyltransferase 2	344					O-glycan processing (GO:0016266)	integral component of membrane (GO:0016021)	UDP-xylosyltransferase activity (GO:0035252)	p.Y344Y(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	18						ACTGCATGTACGGAAGCAACT	0.498																																						ENST00000389617.4																			1	Substitution - coding silent(1)	p.Y344Y(1)	large_intestine(1)	NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	18						c.(1030-1032)taC>taT		glucoside xylosyltransferase 2		C		0,4108		0,0,2054	100	97	98		1032	-11	0.2	3		98	1,8403		0,1,4201	no	coding-synonymous	GXYLT2	NM_001080393.1		0,1,6255	TT,TC,CC		0.0119,0.0,0.0080		344/444	73016753	1,12511	2054	4202	6256	SO:0001819	synonymous_variant	727936				O-glycan processing	integral to membrane	UDP-xylosyltransferase activity	g.chr3:73016753C>T	AC098481	CCDS46870.1	3p13	2013-02-22	2009-11-17	2009-11-17	ENSG00000172986	ENSG00000172986		"Glycosyltransferase family 8 domain containing"	33383	protein-coding gene	gene with protein product		613322	"glycosyltransferase 8 domain containing 4"	GLT8D4		19940119	Standard	NM_001080393		Approved		uc003dpg.3	A0PJZ3	OTTHUMG00000158815	ENST00000389617.4:c.1032C>T	3.37:g.73016753C>T							p.Y344Y	NM_001080393.1	NP_001073862.1	A0PJZ3	GXLT2_HUMAN			6	1193	+			344						Silent	SNP	ENST00000389617.4	37	c.1032C>T	CCDS46870.1																																																																																				0.498	GXYLT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352318.1	NM_001080393		5	19	0	0	0	0.000602214	0	5	19					T	73016753	C	T	73016753	2	4	152	1	0	0	0	0	0	0	0	1	6904	547	19	1		1	GXYLT2	3	73016753	Silent	SNP	C	TCGA-G9-6338-01A-12D-1961-08	10775903	73016753	125005677	6	7428											
OSTalpha	200931	broad.mit.edu	37	chr3	195959365	195959365	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gtgggcagattgcttgttcgCctccctattcctctaaaacc	7	13	8	13	1	1	1	0	0	1	1	4	1	3	1	4	1	2	3	4	1	3	6			TCGA-G9-6338-01A-12D-1961-08	TCGA-G9-6338-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9708a4f-76b5-4eb5-9831-a1f069096578	e152fd51-11d4-46c4-b803-1b79e8f6cf18	g.chr3:195959365C>T	ENST00000296327.5	+	8	1065	c.856C>T	c.(856-858)Cct>Tct	p.P286S	PCYT1A_ENST00000419333.1_Intron	NM_152672.5	NP_689885.4	Q86UW1	OSTA_HUMAN	solute carrier family 51, alpha subunit	286					bile acid and bile salt transport (GO:0015721)|transport (GO:0006810)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|transporter activity (GO:0005215)									Conjugated Estrogens(DB00286)|Digoxin(DB00390)|Dinoprostone(DB00917)	TGCTTGTTCGCCTCCCTATTC	0.552																																						ENST00000296327.5																			0											c.(856-858)Cct>Tct		solute carrier family 51, alpha subunit							163	130	142					3																	195959365		2203	4300	6503	SO:0001583	missense	200931							g.chr3:195959365C>T		CCDS3314.1	3q29	2013-05-22			ENSG00000163959	ENSG00000163959		"Solute carriers"	29955	protein-coding gene	gene with protein product	"organic solute transporter, alpha subunit"	612084				12719432, 20538072	Standard	NM_152672		Approved	OSTalpha	uc003fwd.3	Q86UW1	OTTHUMG00000155684	ENST00000296327.5:c.856C>T	3.37:g.195959365C>T	ENSP00000296327:p.Pro286Ser					PCYT1A_ENST00000419333.1_Intron	p.P286S	NM_152672.5	NP_689885.4					8	1065	+								Q6ZMC7	Missense_Mutation	SNP	ENST00000296327.5	37	c.856C>T	CCDS3314.1	.	.	.	.	.	.	.	.	.	.	C	27.2	4.812629	0.90707	.	.	ENSG00000163959	ENST00000296327	T	0.39229	1.09	6.03	6.03	0.97812	.	0.000000	0.49305	D	0.000151	T	0.66567	0.2802	M	0.83012	2.62	0.80722	D	1	D	0.76494	0.999	D	0.73380	0.98	T	0.60737	-0.7204	10	0.13108	T	0.6	.	19.545	0.95291	0.0:1.0:0.0:0.0	.	286	Q86UW1	OSTA_HUMAN	S	286	ENSP00000296327:P286S	ENSP00000296327:P286S	P	+	1	0	AC069257.9	197443762	0.999000	0.42202	0.984000	0.44739	0.902000	0.53008	5.432000	0.66514	2.861000	0.98227	0.655000	0.94253	CCT		0.552	SLC51A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341253.1	NM_152672		7	86	0	0	0	0.000157383	0	7	86					T	195959365	C	T	195959365	3	4	152	1	0	0	0	0	1	0	0	0	11300	739	26	3	886	3	OSTalpha	3	195959365	Missense_Mutation	SNP	C	TCGA-G9-6338-01A-12D-1961-08	122942612	195959365	2063065	7	7429											
HTT	3064	broad.mit.edu	37	chr4	3176835	3176835	+	Splice_Site	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gtcttctggattcagatcagGtttgtcacttttatctttca	7	19	7	8	0	7	1	4	0	3	1	7	2	7	2	0	2	0	1	0	2	1	6			TCGA-G9-6338-01A-12D-1961-08	TCGA-G9-6338-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9708a4f-76b5-4eb5-9831-a1f069096578	e152fd51-11d4-46c4-b803-1b79e8f6cf18	g.chr4:3176835G>C	ENST00000355072.5	+	33	4552		c.e33+1			NM_002111.6	NP_002102	P42858	HD_HUMAN	huntingtin						anterior/posterior pattern specification (GO:0009952)|axon cargo transport (GO:0008088)|cell aging (GO:0007569)|citrulline metabolic process (GO:0000052)|determination of adult lifespan (GO:0008340)|dopamine receptor signaling pathway (GO:0007212)|endoplasmic reticulum organization (GO:0007029)|endosomal transport (GO:0016197)|ER to Golgi vesicle-mediated transport (GO:0006888)|establishment of mitotic spindle orientation (GO:0000132)|Golgi organization (GO:0007030)|grooming behavior (GO:0007625)|hormone metabolic process (GO:0042445)|insulin secretion (GO:0030073)|iron ion homeostasis (GO:0055072)|L-glutamate import (GO:0051938)|lactate biosynthetic process from pyruvate (GO:0019244)|locomotory behavior (GO:0007626)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of neuron apoptotic process (GO:0043524)|neural plate formation (GO:0021990)|neuron apoptotic process (GO:0051402)|neuron development (GO:0048666)|olfactory lobe development (GO:0021988)|organ development (GO:0048513)|paraxial mesoderm formation (GO:0048341)|positive regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031587)|protein import into nucleus (GO:0006606)|quinolinate biosynthetic process (GO:0019805)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of protein phosphatase type 2A activity (GO:0034047)|regulation of synaptic plasticity (GO:0048167)|response to calcium ion (GO:0051592)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|social behavior (GO:0035176)|spermatogenesis (GO:0007283)|striatum development (GO:0021756)|urea cycle (GO:0000050)|vesicle transport along microtubule (GO:0047496)|visual learning (GO:0008542)	autophagic vacuole (GO:0005776)|axon (GO:0030424)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|inclusion body (GO:0016234)|late endosome (GO:0005770)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein complex (GO:0043234)	beta-tubulin binding (GO:0048487)|diazepam binding (GO:0050809)|dynactin binding (GO:0034452)|dynein intermediate chain binding (GO:0045505)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|p53 binding (GO:0002039)|transcription factor binding (GO:0008134)			breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		TTCAGATCAGGTTTGTCACTT	0.388																																						ENST00000355072.5																			0				breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87						c.e33+1		huntingtin							171	151	157					4																	3176835		1860	4103	5963	SO:0001630	splice_region_variant	3064				establishment of mitotic spindle orientation|Golgi organization|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule	autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|Golgi apparatus|late endosome|membrane fraction|nucleus|protein complex	beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding	g.chr4:3176835G>C	L12392	CCDS43206.1	4p16.3	2014-09-17	2007-12-04	2007-12-04	ENSG00000197386	ENSG00000197386		"Endogenous ligands"	4851	protein-coding gene	gene with protein product		613004	"huntingtin (Huntington disease)"	HD		8458085	Standard	NM_002111		Approved	IT15	uc021xkv.1	P42858	OTTHUMG00000159916	ENST00000355072.5:c.4407+1G>C	4.37:g.3176835G>C								NM_002111.6	NP_002102.4	P42858	HD_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)	33	4552	+		all_epithelial(65;0.18)						Q9UQB7	Splice_Site	SNP	ENST00000355072.5	37		CCDS43206.1	.	.	.	.	.	.	.	.	.	.	G	27.3	4.814444	0.90790	.	.	ENSG00000197386	ENST00000355072	.	.	.	5.34	5.34	0.76211	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.4054	0.94646	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	HTT	3146633	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	9.813000	0.99286	2.659000	0.90383	0.650000	0.86243	.		0.388	HTT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358234.2	NM_002111	Intron	10	117	0	0	0	0.000442599	0	10	117					C	3176835	G	C	3176835	5	2	152	1	0	0	0	0	0	0	1	0	7457	1275	44	5	4538	5	HTT	4	3176835	Splice_Site	SNP	G	TCGA-G9-6338-01A-12D-1961-08		3176835	187977441	8	7430											
ZNF827	152485	broad.mit.edu	37	chr4	146823855	146823855	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	attccatataaaacggttacTtggagtgtattggtcattct	11	16	8	6	1	2	0	1	0	1	0	3	1	3	1	1	3	2	2	1	3	5	8			TCGA-G9-6338-01A-12D-1961-08	TCGA-G9-6338-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9708a4f-76b5-4eb5-9831-a1f069096578	e152fd51-11d4-46c4-b803-1b79e8f6cf18	g.chr4:146823855T>G	ENST00000508784.1	-	2	783	c.556A>C	c.(556-558)Agt>Cgt	p.S186R	ZNF827_ENST00000379448.4_Missense_Mutation_p.S186R|ZNF827_ENST00000513320.1_Intron			Q17R98	ZN827_HUMAN	zinc finger protein 827	186					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48	all_hematologic(180;0.151)					AAACGGTTACTTGGAGTGTAT	0.517																																						ENST00000508784.1																			0				NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						c.(556-558)Agt>Cgt		zinc finger protein 827							91	84	86					4																	146823855		2203	4300	6503	SO:0001583	missense	152485				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr4:146823855T>G	AK091130	CCDS34072.1	4q31.22	2013-01-08			ENSG00000151612	ENSG00000151612		"Zinc fingers, C2H2-type"	27193	protein-coding gene	gene with protein product						12477932	Standard	NM_178835		Approved		uc003ikm.3	Q17R98	OTTHUMG00000161362	ENST00000508784.1:c.556A>C	4.37:g.146823855T>G	ENSP00000421863:p.Ser186Arg					ZNF827_ENST00000379448.4_Missense_Mutation_p.S186R|ZNF827_ENST00000513320.1_Intron	p.S186R			Q17R98	ZN827_HUMAN			2	783	-	all_hematologic(180;0.151)		186					B7ZL52|Q7Z4S7|Q8N279	Missense_Mutation	SNP	ENST00000508784.1	37	c.556A>C		.	.	.	.	.	.	.	.	.	.	T	13.30	2.196780	0.38806	.	.	ENSG00000151612	ENST00000508784;ENST00000379448;ENST00000281318	T;T	0.09445	2.98;3.02	5.77	4.4	0.53042	.	0.159855	0.64402	D	0.000002	T	0.08313	0.0207	N	0.24115	0.695	0.36397	D	0.86286	B;B	0.31859	0.232;0.343	B;B	0.30646	0.055;0.118	T	0.20739	-1.0266	10	0.72032	D	0.01	-3.1288	11.6707	0.51399	0.0:0.1237:0.0:0.8763	.	186;186	Q17R98;Q17R98-2	ZN827_HUMAN;.	R	186;186;185	ENSP00000421863:S186R;ENSP00000368761:S186R	ENSP00000281318:S185R	S	-	1	0	ZNF827	147043305	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	1.462000	0.35266	2.206000	0.71126	0.459000	0.35465	AGT		0.517	ZNF827-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000364654.2	NM_178835		6	83	0	0	0	0.00116845	0	6	83					G	146823855	T	G	146823855	3	3	152	1	0	0	0	0	1	0	0	0	18177	1609	56	5	2725	5	ZNF827	4	146823855	Missense_Mutation	SNP	T	TCGA-G9-6338-01A-12D-1961-08	143647020	146823855	44330421	9	7431											
PCDHB4	56131	broad.mit.edu	37	chr5	140502262	140502262	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggtctggcacggtcatggttCgaatcctgatcatggacatc	8	11	12	10	2	3	1	2	1	1	0	6	3	4	2	1	5	0	2	1	5	1	1	rs375620247		TCGA-G9-6338-01A-12D-1961-08	TCGA-G9-6338-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9708a4f-76b5-4eb5-9831-a1f069096578	e152fd51-11d4-46c4-b803-1b79e8f6cf18	g.chr5:140502262C>T	ENST00000194152.1	+	1	682	c.682C>T	c.(682-684)Cga>Tga	p.R228*	AC005754.8_ENST00000606030.1_lincRNA	NM_018938.2	NP_061761.1	Q9Y5E5	PCDB4_HUMAN	protocadherin beta 4	228	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.R228*(1)		autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	67			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGTCATGGTTCGAATCCTGAT	0.542																																						ENST00000194152.1																			1	Substitution - Nonsense(1)	p.R228*(1)	large_intestine(1)	autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	67						c.(682-684)Cga>Tga				C	stop/ARG	0,4406		0,0,2203	131	121	124		682	2.5	0	5		124	1,8599	1.2+/-3.3	0,1,4299	no	stop-gained	PCDHB4	NM_018938.2		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		228/796	140502262	1,13005	2203	4300	6503	SO:0001587	stop_gained	0				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton	calcium ion binding	g.chr5:140502262C>T	AF152497	CCDS4246.1	5q31	2010-01-26			ENSG00000081818	ENSG00000081818		"Cadherins / Protocadherins : Clustered"	8689	other	protocadherin		606330				10380929	Standard	NM_018938		Approved	PCDH-BETA4	uc003lip.1	Q9Y5E5	OTTHUMG00000129617	ENST00000194152.1:c.682C>T	5.37:g.140502262C>T	ENSP00000194152:p.Arg228*						p.R228*	NM_018938.2	NP_061761.1	Q9Y5E5	PCDB4_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	682	+			228			Cadherin 2.		Q4V761	Nonsense_Mutation	SNP	ENST00000194152.1	37	c.682C>T	CCDS4246.1	.	.	.	.	.	.	.	.	.	.	C	14.90	2.674784	0.47781	0.0	1.16E-4	ENSG00000081818	ENST00000194152	.	.	.	4.31	2.46	0.29980	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.5138	0.61528	0.5737:0.4263:0.0:0.0	.	.	.	.	X	228	.	ENSP00000194152:R228X	R	+	1	2	PCDHB4	140482446	0.000000	0.05858	0.034000	0.17996	0.747000	0.42532	-1.935000	0.01550	0.517000	0.28361	0.650000	0.86243	CGA		0.542	PCDHB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251812.2	NM_018938		6	123	0	0	0	0.00116845	0	6	123					T	140502262	C	T	140502262	4	4	152	1	0	0	0	0	0	1	0	0	11544	876	31	2	684	2	PCDHB4	5	140502262	Nonsense_Mutation	SNP	C	TCGA-G9-6338-01A-12D-1961-08		140502262	40412998	10	7432											
KCNK5	8645	broad.mit.edu	37	chr6	39158873	39158873	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggacttggaggtctcctcGtctgagaggccagcctccgt	6	9	14	12	2	2	1	0	1	2	1	5	5	3	3	4	4	1	0	4	4	0	1	rs144931567		TCGA-G9-6338-01A-12D-1961-08	TCGA-G9-6338-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9708a4f-76b5-4eb5-9831-a1f069096578	e152fd51-11d4-46c4-b803-1b79e8f6cf18	g.chr6:39158873G>A	ENST00000359534.3	-	5	1631	c.1293C>T	c.(1291-1293)gaC>gaT	p.D431D		NM_003740.3	NP_003731.1	O95279	KCNK5_HUMAN	potassium channel, subfamily K, member 5	431					excretion (GO:0007588)|potassium ion transport (GO:0006813)	integral component of plasma membrane (GO:0005887)	potassium channel activity (GO:0005267)|voltage-gated ion channel activity (GO:0005244)	p.D431D(1)		central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(4)|skin(3)	19						AGGTCTCCTCGTCTGAGAGGC	0.632																																						ENST00000359534.3																			1	Substitution - coding silent(1)	p.D431D(1)	large_intestine(1)	central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(4)|skin(3)	19						c.(1291-1293)gaC>gaT		potassium channel, subfamily K, member 5		G		1,4405	2.1+/-5.4	0,1,2202	56	54	55		1293	-9.9	0	6	dbSNP_134	55	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	KCNK5	NM_003740.3		0,3,6500	AA,AG,GG		0.0233,0.0227,0.0231		431/500	39158873	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	8645				excretion	integral to plasma membrane	potassium channel activity|voltage-gated ion channel activity	g.chr6:39158873G>A	AF084830	CCDS4841.1	6p21	2012-03-07			ENSG00000164626	ENSG00000164626		"Potassium channels", "Voltage-gated ion channels / Potassium channels, Two-P"	6280	protein-coding gene	gene with protein product		603493				9812978, 16382106	Standard	XM_005249456		Approved	K2p5.1, TASK-2	uc003oon.3	O95279	OTTHUMG00000014642	ENST00000359534.3:c.1293C>T	6.37:g.39158873G>A							p.D431D	NM_003740.3	NP_003731.1	O95279	KCNK5_HUMAN			5	1631	-			431					B2RAQ6|B5TJL2|Q5VV76	Silent	SNP	ENST00000359534.3	37	c.1293C>T	CCDS4841.1																																																																																				0.632	KCNK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040449.1	NM_003740		4	38	0	0	0	0.00024832	0	4	38					A	39158873	G	A	39158873	2	1	152	1	0	0	0	0	0	0	0	1	8069	1136	40	1		1	KCNK5	6	39158873	Silent	SNP	G	TCGA-G9-6338-01A-12D-1961-08		39158873	131956194	11	7433											
SLC22A16	85413	broad.mit.edu	37	chr6	110768172	110768172	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgctactgcttgtggcccaCaagaccacccggcgtcctag	8	8	10	15	2	0	1	0	0	0	1	1	1	1	1	4	2	3	2	4	2	3	3			TCGA-G9-6338-01A-12D-1961-08	TCGA-G9-6338-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9708a4f-76b5-4eb5-9831-a1f069096578	e152fd51-11d4-46c4-b803-1b79e8f6cf18	g.chr6:110768172C>A	ENST00000368919.3	-	3	621	c.555G>T	c.(553-555)ttG>ttT	p.L185F	SLC22A16_ENST00000330550.4_Missense_Mutation_p.L151F|SLC22A16_ENST00000439654.1_Missense_Mutation_p.L185F|SLC22A16_ENST00000456137.2_3'UTR	NM_033125.3	NP_149116.2	Q86VW1	S22AG_HUMAN	solute carrier family 22 (organic cation/carnitine transporter), member 16	185					acid secretion (GO:0046717)|amine transport (GO:0015837)|carnitine transmembrane transport (GO:1902603)|carnitine transport (GO:0015879)|cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|organic cation transport (GO:0015695)|single fertilization (GO:0007338)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	amine transmembrane transporter activity (GO:0005275)|carnitine transmembrane transporter activity (GO:0015226)|organic cation transmembrane transporter activity (GO:0015101)			breast(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	34		all_cancers(87;0.00221)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.0485)|Colorectal(196;0.101)		OV - Ovarian serous cystadenocarcinoma(136;0.0513)|Epithelial(106;0.0921)|all cancers(137;0.115)	Doxorubicin(DB00997)|L-Carnitine(DB00583)	TTGTGGCCCACAAGACCACCC	0.443																																						ENST00000368919.3																			0				breast(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	34						c.(553-555)ttG>ttT		solute carrier family 22 (organic cation/carnitine transporter), member 16							70	65	67					6																	110768172		2203	4300	6503	SO:0001583	missense	85413				acid secretion|cell differentiation|multicellular organismal development|single fertilization|sperm motility|spermatogenesis	integral to membrane	carnitine transporter activity	g.chr6:110768172C>A		CCDS5084.1	6q21	2013-05-22	2008-01-11		ENSG00000004809	ENSG00000004809		"Solute carriers"	20302	protein-coding gene	gene with protein product		608276	"solute carrier family 22 (organic cation transporter), member 16"			12372408, 12089149, 17473959	Standard	NM_033125		Approved	FLIPT2, CT2, OKB1, OAT6	uc003puf.3	Q86VW1	OTTHUMG00000016171	ENST00000368919.3:c.555G>T	6.37:g.110768172C>A	ENSP00000357915:p.Leu185Phe					SLC22A16_ENST00000330550.4_Missense_Mutation_p.L151F|SLC22A16_ENST00000439654.1_Missense_Mutation_p.L185F|SLC22A16_ENST00000456137.2_3'UTR	p.L185F	NM_033125.3	NP_149116.2	Q86VW1	S22AG_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.0513)|Epithelial(106;0.0921)|all cancers(137;0.115)	3	621	-		all_cancers(87;0.00221)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.0485)|Colorectal(196;0.101)	185					O14567|Q5JXM1|Q8IUG8|Q8IZD5|Q96M90|Q96RU0	Missense_Mutation	SNP	ENST00000368919.3	37	c.555G>T	CCDS5084.1	.	.	.	.	.	.	.	.	.	.	C	11.67	1.708472	0.30322	.	.	ENSG00000004809	ENST00000368919;ENST00000451557;ENST00000330550;ENST00000439654;ENST00000434949;ENST00000437378;ENST00000424139	T;T;T;T;T;T;T	0.79033	-1.23;-1.23;-1.23;-1.23;-1.23;-1.23;-1.23	5.14	2.37	0.29283	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.265904	0.35555	N	0.003128	T	0.69584	0.3127	L	0.45285	1.41	0.80722	D	1	D;D	0.64830	0.994;0.992	D;P	0.66497	0.944;0.907	T	0.65869	-0.6063	10	0.15499	T	0.54	.	10.493	0.44762	0.0:0.6998:0.0:0.3002	.	185;151	Q86VW1;Q86VW1-2	S22AG_HUMAN;.	F	185;102;151;185;15;142;142	ENSP00000357915:L185F;ENSP00000395642:L102F;ENSP00000328583:L151F;ENSP00000408799:L185F;ENSP00000409306:L15F;ENSP00000416310:L142F;ENSP00000401007:L142F	ENSP00000328583:L151F	L	-	3	2	SLC22A16	110874865	1.000000	0.71417	0.477000	0.27303	0.131000	0.20780	1.509000	0.35780	-0.031000	0.13781	-1.134000	0.01955	TTG		0.443	SLC22A16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043428.1	NM_033125		13	21	1	0	1.61879e-10	0.00136819	6.28091e-10	13	21					A	110768172	C	A	110768172	3	1	152	1	0	0	0	0	1	0	0	0	14447	477	17	5	1202	5	SLC22A16	6	110768172	Missense_Mutation	SNP	C	TCGA-G9-6338-01A-12D-1961-08	71609299	110768172	60346895	12	7434											
ENPP1	5167	broad.mit.edu	37	chr6	132195457	132195457	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggatttcatggctctgacAatgtattttcaaatatgcaa	12	15	8	6	0	3	1	2	1	1	0	3	2	3	2	0	2	1	3	0	2	5	5			TCGA-G9-6338-01A-12D-1961-08	TCGA-G9-6338-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9708a4f-76b5-4eb5-9831-a1f069096578	e152fd51-11d4-46c4-b803-1b79e8f6cf18	g.chr6:132195457A>G	ENST00000360971.2	+	16	1635	c.1615A>G	c.(1615-1617)Aat>Gat	p.N539D		NM_006208.2	NP_006199.2	P22413	ENPP1_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 1	539	Phosphodiesterase.				3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|ATP catabolic process (GO:0006200)|biomineral tissue development (GO:0031214)|bone remodeling (GO:0046849)|cellular phosphate ion homeostasis (GO:0030643)|cellular response to insulin stimulus (GO:0032869)|generation of precursor metabolites and energy (GO:0006091)|immune response (GO:0006955)|inorganic diphosphate transport (GO:0030505)|negative regulation of cell growth (GO:0030308)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of glucose import (GO:0046325)|negative regulation of glycogen biosynthetic process (GO:0045719)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of ossification (GO:0030279)|negative regulation of protein autophosphorylation (GO:0031953)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleoside triphosphate catabolic process (GO:0009143)|phosphate-containing compound metabolic process (GO:0006796)|regulation of bone mineralization (GO:0030500)|riboflavin metabolic process (GO:0006771)|sequestering of triglyceride (GO:0030730)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	3'-phosphoadenosine 5'-phosphosulfate binding (GO:0050656)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|insulin receptor binding (GO:0005158)|NADH pyrophosphatase activity (GO:0035529)|nucleic acid binding (GO:0003676)|nucleoside-triphosphate diphosphatase activity (GO:0047429)|nucleotide diphosphatase activity (GO:0004551)|phosphodiesterase I activity (GO:0004528)|polysaccharide binding (GO:0030247)|protein homodimerization activity (GO:0042803)|scavenger receptor activity (GO:0005044)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(22)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	46	Breast(56;0.0505)			GBM - Glioblastoma multiforme(226;0.0216)|OV - Ovarian serous cystadenocarcinoma(155;0.022)	Amifostine(DB01143)|Ribavirin(DB00811)	TGGCTCTGACAATGTATTTTC	0.279																																					Colon(104;336 1535 5856 11019 33782)	ENST00000360971.2																			0				autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(22)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	46						c.(1615-1617)Aat>Gat		ectonucleotide pyrophosphatase/phosphodiesterase 1	Amifostine(DB01143)|Ribavirin(DB00811)						97	106	103					6																	132195457		2203	4286	6489	SO:0001583	missense	5167				3'-phosphoadenosine 5'-phosphosulfate metabolic process|biomineral tissue development|cellular phosphate ion homeostasis|cellular response to insulin stimulus|generation of precursor metabolites and energy|immune response|inorganic diphosphate transport|negative regulation of cell growth|negative regulation of fat cell differentiation|negative regulation of glucose import|negative regulation of glycogen biosynthetic process|negative regulation of insulin receptor signaling pathway|negative regulation of protein autophosphorylation|nucleoside triphosphate catabolic process|phosphate metabolic process|sequestering of triglyceride|water-soluble vitamin metabolic process	basolateral plasma membrane|cell surface|extracellular space|integral to membrane	ATP binding|insulin receptor binding|metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|protein homodimerization activity|scavenger receptor activity	g.chr6:132195457A>G	M57736	CCDS5150.2	6q22-q23	2008-02-07			ENSG00000197594	ENSG00000197594	3.1.4.1, 3.6.1.9		3356	protein-coding gene	gene with protein product		173335		NPPS, M6S1, PDNP1		1315502	Standard	NM_006208		Approved	PC-1, PCA1	uc011ecf.2	P22413	OTTHUMG00000015572	ENST00000360971.2:c.1615A>G	6.37:g.132195457A>G	ENSP00000354238:p.Asn539Asp						p.N539D	NM_006208.2	NP_006199.2	P22413	ENPP1_HUMAN		GBM - Glioblastoma multiforme(226;0.0216)|OV - Ovarian serous cystadenocarcinoma(155;0.022)	16	1635	+	Breast(56;0.0505)		539			Phosphodiesterase.		Q5T9R6|Q9NPZ3|Q9P1P6|Q9UP61|Q9Y6K3	Missense_Mutation	SNP	ENST00000360971.2	37	c.1615A>G	CCDS5150.2	.	.	.	.	.	.	.	.	.	.	A	24.2	4.505537	0.85282	.	.	ENSG00000197594	ENST00000360971	T	0.76060	-0.99	5.95	5.95	0.96441	Alkaline phosphatase-like, alpha/beta/alpha (1);Alkaline-phosphatase-like, core domain (1);	0.047144	0.85682	D	0.000000	D	0.86665	0.5987	M	0.89287	3.02	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	D	0.89140	0.3516	10	0.72032	D	0.01	-31.2336	16.4237	0.83790	1.0:0.0:0.0:0.0	.	539;169	P22413;Q7Z3P5	ENPP1_HUMAN;.	D	539	ENSP00000354238:N539D	ENSP00000354238:N539D	N	+	1	0	ENPP1	132237150	1.000000	0.71417	0.968000	0.41197	0.889000	0.51656	7.548000	0.82154	2.279000	0.76181	0.533000	0.62120	AAT		0.279	ENPP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042238.2			39	67	0	0	0	0.00222228	0	39	67					G	132195457	A	G	132195457	3	3	152	1	0	0	0	0	1	0	0	0	5129	130	5	4	1677	4	ENPP1	6	132195457	Missense_Mutation	SNP	A	TCGA-G9-6338-01A-12D-1961-08	21427285	132195457	38919610	13	7435											
NRCAM	4897	broad.mit.edu	37	chr7	107880413	107880413	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	taatacttacgatcaagaggTacttccagtgcactaatcat	14	12	6	9	1	2	1	2	0	0	1	3	2	3	1	1	1	4	2	1	1	6	6			TCGA-G9-6338-01A-12D-1961-08	TCGA-G9-6338-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9708a4f-76b5-4eb5-9831-a1f069096578	e152fd51-11d4-46c4-b803-1b79e8f6cf18	g.chr7:107880413T>C	ENST00000425651.2	-	1	95	c.96A>G	c.(94-96)gtA>gtG	p.V32V	NRCAM_ENST00000351718.4_Silent_p.V32V|NRCAM_ENST00000379024.4_Silent_p.V32V|NRCAM_ENST00000379022.4_Silent_p.V32V|NRCAM_ENST00000413765.2_Silent_p.V32V|NRCAM_ENST00000379028.3_Silent_p.V32V	NM_001037132.2	NP_001032209.1	Q92823	NRCAM_HUMAN	neuronal cell adhesion molecule	32					angiogenesis (GO:0001525)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|axonogenesis (GO:0007409)|central nervous system development (GO:0007417)|clustering of voltage-gated sodium channels (GO:0045162)|heterotypic cell-cell adhesion (GO:0034113)|neuron migration (GO:0001764)|neuronal action potential propagation (GO:0019227)|positive regulation of neuron differentiation (GO:0045666)|protein localization (GO:0008104)|regulation of axon extension (GO:0030516)|retinal ganglion cell axon guidance (GO:0031290)|single organismal cell-cell adhesion (GO:0016337)|synapse assembly (GO:0007416)	axon initial segment (GO:0043194)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)	ankyrin binding (GO:0030506)			breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(1)|lung(36)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	65						GATCAAGAGGTACTTCCAGTG	0.458																																						ENST00000379028.3																			0				breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(1)|lung(36)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	65						c.(94-96)gtA>gtG		neuronal cell adhesion molecule							109	105	106					7																	107880413		2203	4300	6503	SO:0001819	synonymous_variant	4897				angiogenesis|axon guidance|axonal fasciculation|cell-cell adhesion|central nervous system development|clustering of voltage-gated sodium channels|neuron migration|positive regulation of neuron differentiation|regulation of axon extension|synapse assembly	external side of plasma membrane|integral to plasma membrane	ankyrin binding	g.chr7:107880413T>C		CCDS5751.1, CCDS47686.1, CCDS55153.1, CCDS75652.1	7q31	2013-02-11			ENSG00000091129	ENSG00000091129		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	7994	protein-coding gene	gene with protein product	"NgCAM-related cell adhesion molecule"	601581				8812479	Standard	NM_001037132		Approved	KIAA0343, Bravo	uc022aka.1	Q92823	OTTHUMG00000154973	ENST00000425651.2:c.96A>G	7.37:g.107880413T>C						NRCAM_ENST00000379022.4_Silent_p.V32V|NRCAM_ENST00000379024.4_Silent_p.V32V|NRCAM_ENST00000425651.2_Silent_p.V32V|NRCAM_ENST00000351718.4_Silent_p.V32V|NRCAM_ENST00000413765.2_Silent_p.V32V	p.V32V			Q92823	NRCAM_HUMAN			4	566	-			32					A4D0S3|E9PDA4|O15051|O15179|Q14BM2|Q9UHI3|Q9UHI4	Silent	SNP	ENST00000425651.2	37	c.96A>G	CCDS47686.1																																																																																				0.458	NRCAM-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337942.2	NM_001037132		16	152	0	0	0	0.00074312	0	16	152					C	107880413	T	C	107880413	2	2	152	1	0	0	0	0	0	0	0	1	10644	1625	57	4		4	NRCAM	7	107880413	Silent	SNP	T	TCGA-G9-6338-01A-12D-1961-08		107880413	51258250	14	7436											
NCAPG2	54892	broad.mit.edu	37	chr7	158443616	158443616	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggtgtctgtgtgccgagactGaacagcagtaatgaactcat	11	10	12	8	1	2	3	1	2	1	1	2	4	2	3	1	1	4	2	1	1	3	1			TCGA-G9-6338-01A-12D-1961-08	TCGA-G9-6338-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9708a4f-76b5-4eb5-9831-a1f069096578	e152fd51-11d4-46c4-b803-1b79e8f6cf18	g.chr7:158443616G>A	ENST00000409423.1	-	25	3155	c.2983C>T	c.(2983-2985)Cag>Tag	p.Q995*	NCAPG2_ENST00000409339.3_Nonsense_Mutation_p.Q995*|NCAPG2_ENST00000356309.3_Nonsense_Mutation_p.Q995*|NCAPG2_ENST00000541468.1_Intron|NCAPG2_ENST00000275830.10_Intron|NCAPG2_ENST00000449727.2_Nonsense_Mutation_p.Q995*	NM_001281932.1	NP_001268861.1	Q86XI2	CNDG2_HUMAN	non-SMC condensin II complex, subunit G2	995					chromosome condensation (GO:0030261)|inner cell mass cell proliferation (GO:0001833)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	methylated histone binding (GO:0035064)			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(7)|liver(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	39	Ovarian(565;0.152)	all_cancers(7;3.44e-11)|all_epithelial(9;3.05e-05)|all_hematologic(28;0.014)	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.187)|STAD - Stomach adenocarcinoma(7;0.18)		TGCCGAGACTGAACAGCAGTA	0.463																																						ENST00000409339.3																			0				NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(7)|liver(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	39						c.(2983-2985)Cag>Tag		non-SMC condensin II complex, subunit G2							100	100	100					7																	158443616		1895	4120	6015	SO:0001587	stop_gained	54892				cell division|chromosome condensation|mitosis	nucleus	methylated histone residue binding	g.chr7:158443616G>A	BC043404	CCDS43686.1, CCDS64816.1	7q36.3	2006-09-04	2006-09-04	2006-09-04	ENSG00000146918	ENSG00000146918			21904	protein-coding gene	gene with protein product		608532	"leucine zipper protein 5"	LUZP5		14532007	Standard	NM_001281933		Approved	FLJ20311, MTB, CAP-G2, hCAP-G2	uc003wnv.1	Q86XI2	OTTHUMG00000151438	ENST00000409423.1:c.2983C>T	7.37:g.158443616G>A	ENSP00000386569:p.Gln995*					NCAPG2_ENST00000356309.3_Nonsense_Mutation_p.Q995*|NCAPG2_ENST00000449727.2_Nonsense_Mutation_p.Q995*|NCAPG2_ENST00000275830.10_Intron|NCAPG2_ENST00000541468.1_Intron|NCAPG2_ENST00000409423.1_Nonsense_Mutation_p.Q995*	p.Q995*			Q86XI2	CNDG2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.187)|STAD - Stomach adenocarcinoma(7;0.18)	24	3096	-	Ovarian(565;0.152)	all_cancers(7;3.44e-11)|all_epithelial(9;3.05e-05)|all_hematologic(28;0.014)	995					A4D228|Q7Z3J9|Q8WUG8|Q9BRX6|Q9H8S2|Q9H9K6	Nonsense_Mutation	SNP	ENST00000409423.1	37	c.2983C>T	CCDS43686.1	.	.	.	.	.	.	.	.	.	.	G	39	7.795532	0.98495	.	.	ENSG00000146918	ENST00000356309;ENST00000409423;ENST00000409339;ENST00000545393;ENST00000449727	.	.	.	5.11	5.11	0.69529	.	0.062950	0.64402	D	0.000005	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.27785	T	0.31	-19.8354	17.5121	0.87763	0.0:0.0:1.0:0.0	.	.	.	.	X	995;995;995;438;995	.	ENSP00000348657:Q995X	Q	-	1	0	NCAPG2	158136377	1.000000	0.71417	0.948000	0.38648	0.210000	0.24377	6.362000	0.73077	2.354000	0.79902	0.655000	0.94253	CAG		0.463	NCAPG2-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327111.1	NM_017760		12	98	0	0	0	0.00136819	0	12	98					A	158443616	G	A	158443616	4	1	152	1	0	0	0	0	0	1	0	0	10208	1299	45	3	468	3	NCAPG2	7	158443616	Nonsense_Mutation	SNP	G	TCGA-G9-6338-01A-12D-1961-08	50563203	158443616	695047	15	7437											
RGP1	57704	broad.mit.edu	37	chr9	35751280	35751280	+	5'Flank	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	taggccttcaggatgtccggTttccccaggatgaggctgta	7	11	13	10	1	1	1	1	1	0	0	3	3	3	3	4	5	0	3	4	5	2	4			TCGA-G9-6338-01A-12D-1961-08	TCGA-G9-6338-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9708a4f-76b5-4eb5-9831-a1f069096578	e152fd51-11d4-46c4-b803-1b79e8f6cf18	g.chr9:35751280T>G	ENST00000378103.3	-	0	0				MSMP_ENST00000414286.1_5'Flank|GBA2_ENST00000378094.4_5'Flank|RGP1_ENST00000456972.2_Missense_Mutation_p.F209V|GBA2_ENST00000545786.1_5'Flank|RGP1_ENST00000378078.4_Missense_Mutation_p.F169V	NM_020944.2	NP_065995.1	Q9HCG7	GBA2_HUMAN	glucosidase, beta (bile acid) 2						bile acid metabolic process (GO:0008206)|cell death (GO:0008219)|central nervous system neuron development (GO:0021954)|glucosylceramide catabolic process (GO:0006680)|glycoside catabolic process (GO:0016139)|glycosphingolipid metabolic process (GO:0006687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|smooth endoplasmic reticulum (GO:0005790)	beta-glucosidase activity (GO:0008422)|glucosylceramidase activity (GO:0004348)			NS(1)|kidney(3)|large_intestine(5)|lung(5)|ovary(4)|skin(3)	21	all_epithelial(49;0.167)		Lung(28;0.00416)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			GGATGTCCGGTTTCCCCAGGA	0.512																																						ENST00000378078.4																			0				cervix(1)|kidney(3)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	14						c.(505-507)Ttt>Gtt		RGP1 retrograde golgi transport homolog (S. cerevisiae)							211	209	210					9																	35751280		1957	4138	6095	SO:0001631	upstream_gene_variant	9827							g.chr9:35751280T>G	AJ309567	CCDS6589.1	9p13.2	2013-09-11			ENSG00000070610	ENSG00000070610			18986	protein-coding gene	gene with protein product	"bile acid beta-glucosidase", "non-lysosomal glucosylceramidase"	609471	"spastic paraplegia 46 (autosomal recessive)"	SPG46		11489889, 23332916, 23332917	Standard	NM_020944		Approved	KIAA1605, AD035, DKFZp762K054	uc003zxw.3	Q9HCG7	OTTHUMG00000021024		9.37:g.35751280T>G	Exception_encountered					RGP1_ENST00000456972.2_Missense_Mutation_p.F209V	p.F169V	NM_001080496.2	NP_001073965.2	Q92546	RGP1_HUMAN	Lung(28;0.00416)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)		6	646	+	all_epithelial(49;0.167)		169					D3DRP2|Q5TCV6|Q96A51|Q96LY1|Q96SJ2|Q9H2L8	Missense_Mutation	SNP	ENST00000378103.3	37	c.505T>G	CCDS6589.1	.	.	.	.	.	.	.	.	.	.	T	4.822	0.152767	0.09185	.	.	ENSG00000107185	ENST00000456972;ENST00000378078	.	.	.	5.82	4.68	0.58851	.	0.146508	0.64402	D	0.000006	T	0.38134	0.1029	L	0.36672	1.1	0.35053	D	0.760844	B;B	0.22146	0.065;0.065	B;B	0.30251	0.113;0.113	T	0.38693	-0.9649	9	0.17369	T	0.5	-12.2496	4.2949	0.10897	0.1563:0.1563:0.0:0.6874	.	169;169	Q92546;A8K0K1	RGP1_HUMAN;.	V	209;169	.	ENSP00000367318:F169V	F	+	1	0	RGP1	35741280	1.000000	0.71417	0.958000	0.39756	0.725000	0.41563	5.155000	0.64900	1.038000	0.40049	0.459000	0.35465	TTT		0.512	GBA2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000055456.1	NM_020944		32	338	0	0	0	0.000692331	0	32	338					G	35751280	T	G	35751280	1	3	152	0	1	0	0	0	0	0	0	0	13284	1725	60	5		5	RGP1	9	35751280	5'Flank	SNP	T	TCGA-G9-6338-01A-12D-1961-08		35751280	105462151	16	7438											
KIN	22944	broad.mit.edu	37	chr10	7822139	7822139	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttgttgtggacccttttagTgcctgagaacaaaatatgac	11	13	10	7	0	0	2	0	2	0	1	0	4	0	3	2	1	2	2	2	1	5	5			TCGA-G9-6338-01A-12D-1961-08	TCGA-G9-6338-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9708a4f-76b5-4eb5-9831-a1f069096578	e152fd51-11d4-46c4-b803-1b79e8f6cf18	g.chr10:7822139T>G	ENST00000379562.4	-	4	303	c.256A>C	c.(256-258)Act>Cct	p.T86P	KIN_ENST00000543003.1_5'UTR|KIN_ENST00000535925.1_Missense_Mutation_p.T86P	NM_012311.3	NP_036443.1			Kin17 DNA and RNA binding protein											endometrium(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|pancreas(1)|skin(2)	19						ACCCTTTTAGTGCCTGAGAAC	0.388																																						ENST00000379562.3																			0				endometrium(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|pancreas(1)|skin(2)	19						c.(256-258)Act>Cct		KIN, antigenic determinant of recA protein homolog (mouse)							268	237	247					10																	7822139		2203	4300	6503	SO:0001583	missense	22944				DNA recombination|DNA repair|DNA replication|interspecies interaction between organisms|mRNA processing	cytoplasm|nuclear matrix	double-stranded DNA binding|RNA binding|zinc ion binding	g.chr10:7822139T>G	AJ005273	CCDS7080.1	10p15-p14	2014-07-15	2014-07-15		ENSG00000151657	ENSG00000151657			6327	protein-coding gene	gene with protein product		601720	"antigenic determinant of recA protein (mouse) homolog", "KIN, antigenic determinant of recA protein homolog (mouse)"			1923796, 24140279	Standard	NM_012311		Approved	KIN17, Rts2	uc001ijt.3	O60870	OTTHUMG00000017634	ENST00000379562.4:c.256A>C	10.37:g.7822139T>G	ENSP00000368881:p.Thr86Pro					KIN_ENST00000535925.1_Missense_Mutation_p.T86P|KIN_ENST00000543003.1_5'UTR	p.T86P			O60870	KIN17_HUMAN			4	303	-			86						Missense_Mutation	SNP	ENST00000379562.4	37	c.256A>C	CCDS7080.1	.	.	.	.	.	.	.	.	.	.	T	19.37	3.814667	0.70912	.	.	ENSG00000151657	ENST00000535925;ENST00000379562	.	.	.	5.65	5.65	0.86999	DNA/RNA-binding protein Kin17, conserved domain (1);	0.000000	0.85682	D	0.000000	D	0.84566	0.5500	M	0.92026	3.265	0.80722	D	1	D;D	0.60575	0.988;0.988	D;D	0.80764	0.994;0.994	D	0.86135	0.1577	9	0.39692	T	0.17	-12.7564	14.4602	0.67442	0.0:0.0:0.0:1.0	.	86;86	B4DX32;O60870	.;KIN17_HUMAN	P	86	.	ENSP00000368881:T86P	T	-	1	0	KIN	7862145	1.000000	0.71417	0.973000	0.42090	0.602000	0.36980	6.093000	0.71422	2.149000	0.67028	0.533000	0.62120	ACT		0.388	KIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046683.2	NM_012311		31	78	0	0	0	0.00209593	0	31	78					G	7822139	T	G	7822139	3	3	152	1	0	0	0	0	1	0	0	0	8315	1696	59	5	965	5	KIN	10	7822139	Missense_Mutation	SNP	T	TCGA-G9-6338-01A-12D-1961-08		7822139	127712608	17	7439											
ST8SIA6	338596	broad.mit.edu	37	chr10	17365107	17365107	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tatagtcacaagatttgtttTactgccaacatctttactaa	13	16	4	8	0	2	1	1	0	1	1	2	1	2	1	1	0	4	1	1	0	7	8			TCGA-G9-6338-01A-12D-1961-08	TCGA-G9-6338-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9708a4f-76b5-4eb5-9831-a1f069096578	e152fd51-11d4-46c4-b803-1b79e8f6cf18	g.chr10:17365107T>C	ENST00000377602.4	-	7	759	c.685A>G	c.(685-687)Aaa>Gaa	p.K229E		NM_001004470.1	NP_001004470.1	P61647	SIA8F_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 6	229					carbohydrate biosynthetic process (GO:0016051)|cellular protein metabolic process (GO:0044267)|ganglioside biosynthetic process (GO:0001574)|glycolipid biosynthetic process (GO:0009247)|glycoprotein metabolic process (GO:0009100)|oligosaccharide metabolic process (GO:0009311)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|protein O-linked glycosylation (GO:0006493)|sialylation (GO:0097503)	Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)	sialyltransferase activity (GO:0008373)			endometrium(3)|kidney(3)|large_intestine(4)|liver(1)|lung(24)|ovary(1)|skin(1)	37						AGATTTGTTTTACTGCCAACA	0.333																																						ENST00000377602.4																			0				endometrium(3)|kidney(3)|large_intestine(4)|liver(1)|lung(24)|ovary(1)|skin(1)	37						c.(685-687)Aaa>Gaa		ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 6							202	182	189					10																	17365107		2203	4300	6503	SO:0001583	missense	338596				post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity	g.chr10:17365107T>C		CCDS31158.1	10p13	2013-03-01	2005-02-07	2005-02-07	ENSG00000148488	ENSG00000148488		"Sialyltransferases"	23317	protein-coding gene	gene with protein product	"ST8Sia VI"	610139	"sialyltransferase 8F (alpha-2, 8-sialyltransferase)"	SIAT8F		11980897	Standard	XR_242697		Approved		uc001ipd.3	P61647	OTTHUMG00000017748	ENST00000377602.4:c.685A>G	10.37:g.17365107T>C	ENSP00000366827:p.Lys229Glu						p.K229E	NM_001004470.1	NP_001004470.1	P61647	SIA8F_HUMAN			7	759	-			229					B0YJ97|B9EH72|Q5VZH4	Missense_Mutation	SNP	ENST00000377602.4	37	c.685A>G	CCDS31158.1	.	.	.	.	.	.	.	.	.	.	T	22.5	4.302321	0.81136	.	.	ENSG00000148488	ENST00000377610;ENST00000377602	T	0.48836	0.8	5.12	5.12	0.69794	.	0.000000	0.85682	D	0.000000	T	0.75466	0.3853	M	0.92412	3.305	0.50632	D	0.999881	D	0.76494	0.999	D	0.79784	0.993	T	0.82400	-0.0476	10	0.87932	D	0	-2.0574	15.3779	0.74625	0.0:0.0:0.0:1.0	.	229	P61647	SIA8F_HUMAN	E	59;229	ENSP00000366827:K229E	ENSP00000366827:K229E	K	-	1	0	ST8SIA6	17405113	1.000000	0.71417	0.997000	0.53966	0.963000	0.63663	5.777000	0.68931	2.280000	0.76307	0.460000	0.39030	AAA		0.333	ST8SIA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047036.1	NM_001004470		25	50	0	0	0	0.00106085	0	25	50					C	17365107	T	C	17365107	3	2	152	1	0	0	0	0	1	0	0	0	15235	1763	61	4	519	4	ST8SIA6	10	17365107	Missense_Mutation	SNP	T	TCGA-G9-6338-01A-12D-1961-08	9542968	17365107	118169640	18	7440											
ANKRD30A	91074	broad.mit.edu	37	chr10	37508447	37508447	+	Nonsense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctaaaaattaatctcaattaTgcaggagatgctctaagaga	17	11	7	6	0	2	2	1	0	2	2	3	4	2	2	0	1	2	2	0	1	7	4			TCGA-G9-6338-01A-12D-1961-08	TCGA-G9-6338-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9708a4f-76b5-4eb5-9831-a1f069096578	e152fd51-11d4-46c4-b803-1b79e8f6cf18	g.chr10:37508447T>G	ENST00000602533.1	+	34	3738	c.3639T>G	c.(3637-3639)taT>taG	p.Y1213*	ANKRD30A_ENST00000361713.1_Nonsense_Mutation_p.Y1213*|ANKRD30A_ENST00000374660.1_Nonsense_Mutation_p.Y1332*			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	1269					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						ATCTCAATTATGCAGGAGATG	0.373																																						ENST00000374660.1																			0				NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						c.(3994-3996)taT>taG		ankyrin repeat domain 30A							58	51	53					10																	37508447		1862	4092	5954	SO:0001587	stop_gained	91074					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr10:37508447T>G	AF269087	CCDS7193.1	10p11.21	2013-01-10			ENSG00000148513	ENSG00000148513		"Ankyrin repeat domain containing"	17234	protein-coding gene	gene with protein product	"breast cancer antigen NY-BR-1"	610856				11280766	Standard	NM_052997		Approved	NY-BR-1	uc001iza.1	Q9BXX3	OTTHUMG00000017968	ENST00000602533.1:c.3639T>G	10.37:g.37508447T>G	ENSP00000473551:p.Tyr1213*					ANKRD30A_ENST00000602533.1_Nonsense_Mutation_p.Y1213*|ANKRD30A_ENST00000361713.1_Nonsense_Mutation_p.Y1213*	p.Y1332*			Q9BXX3	AN30A_HUMAN			40	4095	+			1269					Q5W025	Nonsense_Mutation	SNP	ENST00000602533.1	37	c.3996T>G		.	.	.	.	.	.	.	.	.	.	t	32	5.140807	0.94560	.	.	ENSG00000148513	ENST00000361713;ENST00000374660	.	.	.	2.91	-5.82	0.02333	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	1.7071	0.02884	0.1326:0.1472:0.2638:0.4564	.	.	.	.	X	1213;1332	.	ENSP00000354432:Y1213X	Y	+	3	2	ANKRD30A	37548453	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.363000	0.02592	-1.470000	0.01888	-0.457000	0.05445	TAT		0.373	ANKRD30A-001	KNOWN	NMD_exception|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000047588.2	NM_052997		3	36	0	0	0	6.4e-05	0	3	36					G	37508447	T	G	37508447	4	3	152	1	0	0	0	0	0	1	0	0	658	1471	51	5	3773	5	ANKRD30A	10	37508447	Nonsense_Mutation	SNP	T	TCGA-G9-6338-01A-12D-1961-08	20143340	37508447	98026300	19	7441											
AIFM2	84883	broad.mit.edu	37	chr10	71877572	71877572	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtgagggtgcacgtactcagCagcagctgcacgcccttccg	7	7	13	14	3	1	1	1	1	0	0	2	1	2	1	2	1	6	6	2	1	1	2			TCGA-G9-6338-01A-12D-1961-08	TCGA-G9-6338-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9708a4f-76b5-4eb5-9831-a1f069096578	e152fd51-11d4-46c4-b803-1b79e8f6cf18	g.chr10:71877572C>A	ENST00000307864.1	-	6	825	c.612G>T	c.(610-612)ctG>ctT	p.L204L	AIFM2_ENST00000373248.1_Silent_p.L204L|AIFM2_ENST00000482166.1_5'UTR	NM_001198696.1|NM_032797.5	NP_001185625.1|NP_116186.1	Q9BRQ8	AIFM2_HUMAN	apoptosis-inducing factor, mitochondrion-associated, 2	204					apoptotic mitochondrial changes (GO:0008637)|positive regulation of apoptotic process (GO:0043065)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|lipid particle (GO:0005811)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	DNA binding (GO:0003677)|electron-transferring-flavoprotein dehydrogenase activity (GO:0004174)|flavin adenine dinucleotide binding (GO:0050660)|NADH dehydrogenase (ubiquinone) activity (GO:0008137)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)|skin(2)|urinary_tract(2)	16						ACGTACTCAGCAGCAGCTGCA	0.637																																						ENST00000307864.1																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)|skin(2)|urinary_tract(2)	16						c.(610-612)ctG>ctT		apoptosis-inducing factor, mitochondrion-associated, 2							85	76	79					10																	71877572		2203	4300	6503	SO:0001819	synonymous_variant	84883				apoptotic mitochondrial changes|chromosome condensation|induction of apoptosis	cytosol|integral to membrane|mitochondrial outer membrane	DNA binding|electron-transferring-flavoprotein dehydrogenase activity|flavin adenine dinucleotide binding	g.chr10:71877572C>A	AK027403	CCDS7297.1	10q22.2	2006-11-16	2006-11-16	2006-11-16	ENSG00000042286	ENSG00000042286			21411	protein-coding gene	gene with protein product		605159	"apoptosis-inducing factor (AIF)-like mitochondrion-associated inducer of death"	AMID		12135761, 11980907, 15958387	Standard	NM_001198696		Approved	FLJ14497, PRG3	uc001jqp.2	Q9BRQ8	OTTHUMG00000018398	ENST00000307864.1:c.612G>T	10.37:g.71877572C>A						AIFM2_ENST00000373248.1_Silent_p.L204L|AIFM2_ENST00000482166.1_5'UTR	p.L204L	NM_001198696.1|NM_032797.5	NP_001185625.1|NP_116186.1	Q9BRQ8	AIFM2_HUMAN			6	825	-			204					B3KXI0|Q63Z39	Silent	SNP	ENST00000307864.1	37	c.612G>T	CCDS7297.1																																																																																				0.637	AIFM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048487.1	NM_032797		8	64	1	0	0.000442599	0.000442599	0.00168361	8	64					A	71877572	C	A	71877572	2	1	152	1	0	0	0	0	0	0	0	1	427	697	25	5		5	AIFM2	10	71877572	Silent	SNP	C	TCGA-G9-6338-01A-12D-1961-08	34369125	71877572	63657175	20	7442											
MADD	4607	broad.mit.edu	37	chr11	47350634	47350634	+	IGR	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctccgtattatgtctcttctCgtacgtggctgcagttcata	6	16	8	11	3	3	0	1	0	2	0	6	0	4	0	1	1	2	5	1	1	4	6			TCGA-G9-6338-01A-12D-1961-08	TCGA-G9-6338-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9708a4f-76b5-4eb5-9831-a1f069096578	e152fd51-11d4-46c4-b803-1b79e8f6cf18	g.chr11:47350634C>T	ENST00000545968.1	-	0	4217				MADD_ENST00000395344.3_Missense_Mutation_p.S1520L|MADD_ENST00000342922.4_Missense_Mutation_p.S1567L|MADD_ENST00000402192.2_Missense_Mutation_p.S1566L|MADD_ENST00000395336.3_3'UTR|MADD_ENST00000407859.3_Missense_Mutation_p.S1544L|MADD_ENST00000349238.3_Missense_Mutation_p.S1587L|MADD_ENST00000311027.5_Missense_Mutation_p.S1626L|MADD_ENST00000402799.1_Missense_Mutation_p.S1524L|MADD_ENST00000406482.1_3'UTR	NM_000256.3	NP_000247.2	Q14896	MYPC3_HUMAN	myosin binding protein C, cardiac						cardiac muscle contraction (GO:0060048)|cell adhesion (GO:0007155)|heart morphogenesis (GO:0003007)|muscle filament sliding (GO:0030049)|myosin filament assembly (GO:0031034)|positive regulation of ATPase activity (GO:0032781)|regulation of heart rate (GO:0002027)|regulation of muscle filament sliding (GO:0032971)|regulation of striated muscle contraction (GO:0006942)|sarcomere organization (GO:0045214)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	A band (GO:0031672)|C zone (GO:0014705)|cytosol (GO:0005829)|sarcomere (GO:0030017)|striated muscle myosin thick filament (GO:0005863)	ATPase activator activity (GO:0001671)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|myosin binding (GO:0017022)|myosin heavy chain binding (GO:0032036)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(4)|lung(16)|ovary(3)|prostate(3)|urinary_tract(2)	42				Lung(87;0.176)		TGTCTCTTCTCGTACGTGGCT	0.557																																						ENST00000342922.4																			0				breast(7)|central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(19)|lung(26)|ovary(6)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	84						c.(4699-4701)tCg>tTg		MAP-kinase activating death domain							192	166	175					11																	47350634		2201	4298	6499	SO:0001628	intergenic_variant	8567				activation of MAPK activity|apoptosis|cell surface receptor linked signaling pathway|regulation of apoptosis|regulation of cell cycle	cytoplasm|integral to membrane|plasma membrane	death receptor binding|protein kinase activator activity|Rab guanyl-nucleotide exchange factor activity	g.chr11:47350634C>T	X84075	CCDS53621.1	11p11.2	2014-09-17	2001-11-28			ENSG00000134571		"Myosin binding proteins", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	7551	protein-coding gene	gene with protein product		600958	"myosin-binding protein C, cardiac"	CMH4		7744002, 8358441	Standard	NM_000256		Approved	MYBP-C, FHC	uc021qis.1	Q14896			11.37:g.47350634C>T						MADD_ENST00000407859.3_Missense_Mutation_p.S1544L|MADD_ENST00000406482.1_3'UTR|MADD_ENST00000402799.1_Missense_Mutation_p.S1524L|MADD_ENST00000395336.3_3'UTR|MADD_ENST00000395344.3_Missense_Mutation_p.S1520L|MADD_ENST00000349238.3_Missense_Mutation_p.S1587L|MADD_ENST00000311027.5_Missense_Mutation_p.S1626L|MADD_ENST00000402192.2_Missense_Mutation_p.S1566L	p.S1567L	NM_130470.2	NP_569826.2	Q8WXG6	MADD_HUMAN		Lung(87;0.182)	33	5057	+			1626					A5PL00|Q16410|Q6R2F7|Q9UE27|Q9UM53	Missense_Mutation	SNP	ENST00000545968.1	37	c.4700C>T	CCDS53621.1	.	.	.	.	.	.	.	.	.	.	C	36	5.737356	0.96865	.	.	ENSG00000110514	ENST00000342922;ENST00000402799;ENST00000349238;ENST00000311027;ENST00000407859;ENST00000395344;ENST00000402192	T;T;T;T;T;T;T	0.10192	3.03;2.91;3.02;3.05;2.9;2.9;3.04	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	T	0.34106	0.0886	M	0.64170	1.965	0.80722	D	1	D;D;D;D;D;D;D	0.89917	0.999;0.999;0.999;1.0;0.999;0.998;1.0	D;D;D;D;D;D;D	0.83275	0.978;0.984;0.99;0.996;0.993;0.99;0.996	T	0.01068	-1.1462	10	0.87932	D	0	-6.8112	20.0016	0.97412	0.0:1.0:0.0:0.0	.	1520;1520;1524;1587;1544;1626;1567	B5MEE5;A8K8S7;Q8WXG6-5;Q8WXG6-2;Q8WXG6-4;Q8WXG6;Q8WXG6-3	.;.;.;.;.;MADD_HUMAN;.	L	1567;1524;1587;1626;1544;1520;1566	ENSP00000343902:S1567L;ENSP00000385585:S1524L;ENSP00000304505:S1587L;ENSP00000310933:S1626L;ENSP00000384204:S1544L;ENSP00000378753:S1520L;ENSP00000384287:S1566L	ENSP00000310933:S1626L	S	+	2	0	MADD	47307210	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.023000	0.76437	2.731000	0.93534	0.555000	0.69702	TCG		0.557	MYBPC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000392271.3			80	121	0	0	0	0.000781405	0	80	121					T	47350634	C	T	47350634	1	4	152	0	1	0	0	0	0	0	0	0	9152	893	31	2		2	MADD	11	47350634	IGR	SNP	C	TCGA-G9-6338-01A-12D-1961-08		47350634	87655882	21	7443											
OR1S2	219958	broad.mit.edu	37	chr11	57971223	57971223	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cccgcatgaaagttgtatagTtcagagggtggcagatcgcc	10	9	13	9	2	1	3	1	1	0	2	2	3	1	3	2	2	0	5	2	2	3	4			TCGA-G9-6338-01A-12D-1961-08	TCGA-G9-6338-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9708a4f-76b5-4eb5-9831-a1f069096578	e152fd51-11d4-46c4-b803-1b79e8f6cf18	g.chr11:57971223T>C	ENST00000302592.6	-	1	430	c.431A>G	c.(430-432)aAc>aGc	p.N144S		NM_001004459.1	NP_001004459.1	Q8NGQ3	OR1S2_HUMAN	olfactory receptor, family 1, subfamily S, member 2	144						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(11)|kidney(1)|large_intestine(4)|lung(23)|ovary(2)|skin(2)|stomach(2)|urinary_tract(1)	46		Breast(21;0.0589)				AGTTGTATAGTTCAGAGGGTG	0.463																																						ENST00000302592.6																			0				endometrium(11)|kidney(1)|large_intestine(4)|lung(23)|ovary(2)|skin(2)|stomach(2)|urinary_tract(1)	46						c.(430-432)aAc>aGc		olfactory receptor, family 1, subfamily S, member 2							152	144	147					11																	57971223		2201	4296	6497	SO:0001583	missense	219958				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:57971223T>C	BK004297	CCDS31545.1	11q12.1	2012-08-09			ENSG00000197887	ENSG00000197887		"GPCR / Class A : Olfactory receptors"	15141	protein-coding gene	gene with protein product							Standard	NM_001004459		Approved		uc010rkb.2	Q8NGQ3	OTTHUMG00000167541	ENST00000302592.6:c.431A>G	11.37:g.57971223T>C	ENSP00000305469:p.Asn144Ser						p.N144S	NM_001004459.1	NP_001004459.1	Q8NGQ3	OR1S2_HUMAN			1	430	-		Breast(21;0.0589)	144					Q6IFG5|Q96R85	Missense_Mutation	SNP	ENST00000302592.6	37	c.431A>G	CCDS31545.1	.	.	.	.	.	.	.	.	.	.	T	7.712	0.695390	0.15106	.	.	ENSG00000197887	ENST00000302592	T	0.00382	7.61	4.47	-0.94	0.10405	GPCR, rhodopsin-like superfamily (1);	0.664334	0.13806	N	0.361469	T	0.00178	0.0005	N	0.20401	0.57	0.24998	N	0.991486	B	0.19706	0.038	B	0.14023	0.01	T	0.35151	-0.9800	10	0.66056	D	0.02	.	5.5071	0.16860	0.0:0.1541:0.2708:0.5751	.	144	Q8NGQ3	OR1S2_HUMAN	S	144	ENSP00000305469:N144S	ENSP00000305469:N144S	N	-	2	0	OR1S2	57727799	0.000000	0.05858	0.149000	0.22428	0.192000	0.23643	-0.817000	0.04472	-0.253000	0.09514	-0.290000	0.09829	AAC		0.463	OR1S2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394703.2	NM_001004459		14	100	0	0	0	0.00244969	0	14	100					C	57971223	T	C	57971223	3	2	152	1	0	0	0	0	1	0	0	0	10973	1725	60	4	549	4	OR1S2	11	57971223	Missense_Mutation	SNP	T	TCGA-G9-6338-01A-12D-1961-08	10620589	57971223	77035293	22	7444											
FADS3	3995	broad.mit.edu	37	chr11	61641315	61641315	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggtaggcgtccagccagaTgtcaccagacttcttcaggg	9	8	13	11	1	3	2	2	0	1	2	4	3	4	2	3	3	1	1	3	3	1	3			TCGA-G9-6338-01A-12D-1961-08	TCGA-G9-6338-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9708a4f-76b5-4eb5-9831-a1f069096578	e152fd51-11d4-46c4-b803-1b79e8f6cf18	g.chr11:61641315T>C	ENST00000278829.2	-	12	1461	c.1309A>G	c.(1309-1311)Atc>Gtc	p.I437V	FADS3_ENST00000525588.1_Missense_Mutation_p.I409V|FADS3_ENST00000540820.1_3'UTR|FADS3_ENST00000527697.1_Missense_Mutation_p.I322V	NM_021727.3	NP_068373.1	Q9Y5Q0	FADS3_HUMAN	fatty acid desaturase 3	437					unsaturated fatty acid biosynthetic process (GO:0006636)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxidoreductase activity, acting on paired donors, with oxidation of a pair of donors resulting in the reduction of molecular oxygen to two molecules of water (GO:0016717)			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						TCCAGCCAGATGTCACCAGAC	0.622																																						ENST00000278829.2																			0				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						c.(1309-1311)Atc>Gtc		fatty acid desaturase 3							38	34	36					11																	61641315		2202	4298	6500	SO:0001583	missense	3995				electron transport chain|transport|unsaturated fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|membrane fraction	heme binding|oxidoreductase activity, acting on paired donors, with oxidation of a pair of donors resulting in the reduction of molecular oxygen to two molecules of water	g.chr11:61641315T>C		CCDS8013.1	11q12-q13.1	2013-01-25			ENSG00000221968	ENSG00000221968	1.14.19.3	"Fatty acid desaturases"	3576	protein-coding gene	gene with protein product	"delta-9-desaturase"	606150		LLCDL3			Standard	NM_021727		Approved	CYB5RP	uc001nsm.3	Q9Y5Q0	OTTHUMG00000167500	ENST00000278829.2:c.1309A>G	11.37:g.61641315T>C	ENSP00000278829:p.Ile437Val					FADS3_ENST00000525588.1_Missense_Mutation_p.I409V|FADS3_ENST00000527697.1_Missense_Mutation_p.I322V|FADS3_ENST00000540820.1_3'UTR	p.I437V	NM_021727.3	NP_068373.1	Q9Y5Q0	FADS3_HUMAN			12	1461	-			437					O60426	Missense_Mutation	SNP	ENST00000278829.2	37	c.1309A>G	CCDS8013.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	11.98|11.98	1.800762|1.800762	0.31869|0.31869	.|.	.|.	ENSG00000221968|ENSG00000221968	ENST00000525094|ENST00000527697;ENST00000278829;ENST00000525588	.|T;T;T	.|0.57107	.|2.0;0.42;0.42	4.78|4.78	-1.31|-1.31	0.09230|0.09230	.|.	.|.	.|.	.|.	.|.	T|T	0.19208|0.19208	0.0461|0.0461	N|N	0.00760|0.00760	-1.21|-1.21	0.26200|0.26200	N|N	0.979459|0.979459	.|B;B	.|0.02656	.|0.0;0.0	.|B;B	.|0.04013	.|0.001;0.001	T|T	0.17501|0.17501	-1.0367|-1.0367	5|9	.|0.44086	.|T	.|0.13	-6.3535|-6.3535	6.3752|6.3752	0.21503|0.21503	0.0:0.4474:0.2003:0.3523|0.0:0.4474:0.2003:0.3523	.|.	.|322;437	.|E9PKP8;Q9Y5Q0	.|.;FADS3_HUMAN	R|V	107|322;437;409	.|ENSP00000431533:I322V;ENSP00000278829:I437V;ENSP00000432206:I409V	.|ENSP00000278829:I437V	H|I	-|-	2|1	0|0	FADS3|FADS3	61397891|61397891	0.000000|0.000000	0.05858|0.05858	0.060000|0.060000	0.19600|0.19600	0.985000|0.985000	0.73830|0.73830	-1.292000|-1.292000	0.02772|0.02772	-0.644000|-0.644000	0.05465|0.05465	0.454000|0.454000	0.30748|0.30748	CAT|ATC		0.622	FADS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394836.1			3	28	0	0	0	0.00024832	0	3	28					C	61641315	T	C	61641315	3	2	152	1	0	0	0	0	1	0	0	0	5367	1464	51	4	32	4	FADS3	11	61641315	Missense_Mutation	SNP	T	TCGA-G9-6338-01A-12D-1961-08	3670092	61641315	73365201	23	7445											
WNK1	65125	broad.mit.edu	37	chr12	966384	966384	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctgaagtgaaggaaattattGaaggatgcatacgacaaaac	18	8	10	5	1	0	3	0	3	0	0	0	6	0	5	0	2	3	1	0	2	8	3			TCGA-G9-6338-01A-12D-1961-08	TCGA-G9-6338-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9708a4f-76b5-4eb5-9831-a1f069096578	e152fd51-11d4-46c4-b803-1b79e8f6cf18	g.chr12:966384G>A	ENST00000315939.6	+	5	2012	c.1369G>A	c.(1369-1371)Gaa>Aaa	p.E457K	WNK1_ENST00000540360.1_3'UTR|WNK1_ENST00000340908.4_Missense_Mutation_p.E50K|WNK1_ENST00000537687.1_Missense_Mutation_p.E457K|WNK1_ENST00000530271.2_Missense_Mutation_p.E457K|WNK1_ENST00000535572.1_Missense_Mutation_p.E457K	NM_018979.3	NP_061852.3	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1	457	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				intracellular signal transduction (GO:0035556)|ion transport (GO:0006811)|negative regulation of pancreatic juice secretion (GO:0090188)|negative regulation of phosphatase activity (GO:0010923)|neuron development (GO:0048666)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of systemic arterial blood pressure (GO:0003084)|protein phosphorylation (GO:0006468)|regulation of cellular process (GO:0050794)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|chloride channel inhibitor activity (GO:0019869)|phosphatase binding (GO:0019902)|protein kinase inhibitor activity (GO:0004860)|protein serine/threonine kinase activity (GO:0004674)			breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			GGAAATTATTGAAGGATGCAT	0.373																																					Colon(19;451 567 6672 12618 28860)	ENST00000537687.1																			0				breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104						c.(1369-1371)Gaa>Aaa		WNK lysine deficient protein kinase 1							97	94	95					12																	966384		2203	4300	6503	SO:0001583	missense	65125				intracellular protein kinase cascade|ion transport|neuron development	cytoplasm	ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity	g.chr12:966384G>A	AJ296290	CCDS8506.1, CCDS53731.1, CCDS73419.1	12p13.3	2014-09-17	2005-01-19	2005-01-21	ENSG00000060237	ENSG00000060237			14540	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 167"	605232	"protein kinase, lysine deficient 1", "hereditary sensory neuropathy, type II"	PRKWNK1, HSN2			Standard	NM_001184985		Approved	HSAN2, PPP1R167	uc031qfk.1	Q9H4A3	OTTHUMG00000090321	ENST00000315939.6:c.1369G>A	12.37:g.966384G>A	ENSP00000313059:p.Glu457Lys					WNK1_ENST00000530271.2_Missense_Mutation_p.E457K|WNK1_ENST00000540360.1_3'UTR|WNK1_ENST00000315939.6_Missense_Mutation_p.E457K|WNK1_ENST00000340908.4_Missense_Mutation_p.E50K|WNK1_ENST00000535572.1_Missense_Mutation_p.E457K	p.E457K	NM_001184985.1|NM_213655.4	NP_001171914.1|NP_998820.3	Q9H4A3	WNK1_HUMAN	Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)		5	2012	+	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		457			Protein kinase.		A1L4B0|C5HTZ5|C5HTZ6|C5HTZ7|H6WZW3|O15052|P54963|Q4VBX9|Q6IFS5|Q86WL5|Q8N673|Q96CZ6|Q9P1S9	Missense_Mutation	SNP	ENST00000315939.6	37	c.1369G>A	CCDS8506.1	.	.	.	.	.	.	.	.	.	.	G	34	5.341399	0.95783	.	.	ENSG00000060237	ENST00000535572;ENST00000315939;ENST00000537687;ENST00000530271;ENST00000340908	T;T;T;T;T	0.64803	-0.12;-0.12;-0.12;-0.12;1.9	5.84	5.84	0.93424	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	D	0.000005	T	0.67277	0.2876	N	0.20483	0.58	0.58432	D	0.999991	D;D	0.55172	0.963;0.97	P;P	0.61940	0.784;0.896	T	0.67241	-0.5720	10	0.44086	T	0.13	-18.3748	20.1466	0.98079	0.0:0.0:1.0:0.0	.	457;457	F5GWT4;Q9H4A3	.;WNK1_HUMAN	K	457;457;457;457;50	ENSP00000441972:E457K;ENSP00000313059:E457K;ENSP00000444465:E457K;ENSP00000433548:E457K;ENSP00000341292:E50K	ENSP00000313059:E457K	E	+	1	0	WNK1	836645	1.000000	0.71417	0.999000	0.59377	0.974000	0.67602	9.824000	0.99380	2.779000	0.95612	0.591000	0.81541	GAA		0.373	WNK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206683.1	NM_018979		23	29	0	0	0	0.000878237	0	23	29					A	966384	G	A	966384	3	1	152	1	0	0	0	0	1	0	0	0	17374	1291	45	3	1387	3	WNK1	12	966384	Missense_Mutation	SNP	G	TCGA-G9-6338-01A-12D-1961-08		966384	132885511	24	7446											
CNOT2	4848	broad.mit.edu	37	chr12	70723332	70723332	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accaacaatgtcacttcacaCgcctccatctccaagcaggt	12	8	5	16	1	3	0	2	0	1	0	5	0	4	0	4	1	2	1	4	1	3	1			TCGA-G9-6338-01A-12D-1961-08	TCGA-G9-6338-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9708a4f-76b5-4eb5-9831-a1f069096578	e152fd51-11d4-46c4-b803-1b79e8f6cf18	g.chr12:70723332C>T	ENST00000418359.3	+	6	819	c.368C>T	c.(367-369)aCg>aTg	p.T123M	CNOT2_ENST00000548230.1_3'UTR|CNOT2_ENST00000229195.3_Missense_Mutation_p.T123M	NM_001199302.1	NP_001186231.1	Q9NZN8	CNOT2_HUMAN	CCR4-NOT transcription complex, subunit 2	123					gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of cytoplasmic mRNA processing body assembly (GO:0010606)|regulation of stem cell maintenance (GO:2000036)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|transcription from RNA polymerase II promoter (GO:0006366)|trophectodermal cell differentiation (GO:0001829)	CCR4-NOT complex (GO:0030014)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	RNA polymerase II transcription cofactor activity (GO:0001104)|RNA polymerase II transcription corepressor binding (GO:0001226)			cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|pancreas(2)|urinary_tract(1)	20	Renal(347;0.236)		GBM - Glioblastoma multiforme(1;4.77e-09)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00243)|STAD - Stomach adenocarcinoma(21;0.0118)			TCACTTCACACGCCTCCATCT	0.398																																						ENST00000229195.3																			0				cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|pancreas(2)|urinary_tract(1)	20						c.(367-369)aCg>aTg		CCR4-NOT transcription complex, subunit 2							133	122	125					12																	70723332		2203	4300	6503	SO:0001583	missense	4848				nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	protein binding|RNA polymerase II transcription cofactor activity	g.chr12:70723332C>T	AF180473	CCDS31857.1	12q15	2008-05-14				ENSG00000111596			7878	protein-coding gene	gene with protein product		604909		NOT2		10637334	Standard	NM_014515		Approved	CDC36, NOT2H	uc001svv.3	Q9NZN8		ENST00000418359.3:c.368C>T	12.37:g.70723332C>T	ENSP00000412091:p.Thr123Met					CNOT2_ENST00000418359.3_Missense_Mutation_p.T123M|CNOT2_ENST00000548230.1_3'UTR	p.T123M	NM_014515.5	NP_055330.1	Q9NZN8	CNOT2_HUMAN	GBM - Glioblastoma multiforme(1;4.77e-09)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00243)|STAD - Stomach adenocarcinoma(21;0.0118)		5	947	+	Renal(347;0.236)		123					Q9H3E0|Q9NSX5|Q9NWR6|Q9P028	Missense_Mutation	SNP	ENST00000418359.3	37	c.368C>T	CCDS31857.1	.	.	.	.	.	.	.	.	.	.	C	15.85	2.956011	0.53293	.	.	ENSG00000111596	ENST00000552231;ENST00000229195;ENST00000418359;ENST00000552915;ENST00000550641;ENST00000548159;ENST00000549750;ENST00000551043;ENST00000551873;ENST00000550194	T;T;T;T	0.48836	0.8;0.8;0.81;0.8	5.5	5.5	0.81552	.	0.207589	0.50627	D	0.000118	T	0.41419	0.1158	N	0.24115	0.695	0.58432	D	0.999999	P	0.50943	0.94	P	0.44732	0.459	T	0.20273	-1.0280	10	0.33141	T	0.24	-4.9036	19.4076	0.94655	0.0:1.0:0.0:0.0	.	123	Q9NZN8	CNOT2_HUMAN	M	123;123;123;123;103;114;123;123;38;123	ENSP00000229195:T123M;ENSP00000412091:T123M;ENSP00000449659:T114M;ENSP00000449260:T123M	ENSP00000229195:T123M	T	+	2	0	CNOT2	69009599	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	7.487000	0.81328	2.586000	0.87340	0.460000	0.39030	ACG		0.398	CNOT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404260.1			24	50	0	0	0	0.000878237	0	24	50					T	70723332	C	T	70723332	3	4	152	1	0	0	0	0	1	0	0	0	3619	536	19	1	382	1	CNOT2	12	70723332	Missense_Mutation	SNP	C	TCGA-G9-6338-01A-12D-1961-08	69756948	70723332	63128563	25	7447											
TP53BP1	7158	broad.mit.edu	37	chr15	43748753	43748753	+	Nonsense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actctccatattttcttcttTgagttcctctccttgacttt	5	21	3	12	0	4	2	0	2	4	0	7	2	5	2	3	0	0	1	3	0	1	8			TCGA-G9-6338-01A-12D-1961-08	TCGA-G9-6338-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9708a4f-76b5-4eb5-9831-a1f069096578	e152fd51-11d4-46c4-b803-1b79e8f6cf18	g.chr15:43748753T>A	ENST00000263801.3	-	12	2290	c.2038A>T	c.(2038-2040)Aaa>Taa	p.K680*	TP53BP1_ENST00000450115.2_Nonsense_Mutation_p.K685*|TP53BP1_ENST00000382044.4_Nonsense_Mutation_p.K685*|TP53BP1_ENST00000382039.3_Nonsense_Mutation_p.K685*|TP53BP1_ENST00000605155.1_5'Flank	NM_005657.2	NP_005648.1	Q12888	TP53B_HUMAN	tumor protein p53 binding protein 1	680					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|replication fork (GO:0005657)	damaged DNA binding (GO:0003684)|methylated histone binding (GO:0035064)|p53 binding (GO:0002039)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II transcription cofactor activity (GO:0001104)|telomeric DNA binding (GO:0042162)			breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3)	72		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;1.59e-06)		TTTTCTTCTTTGAGTTCCTCT	0.443								Other conserved DNA damage response genes																														ENST00000263801.3																			0				breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3)	72						c.(2038-2040)Aaa>Taa	Other conserved DNA damage response genes	tumor protein p53 binding protein 1							97	102	101					15																	43748753		2201	4298	6499	SO:0001587	stop_gained	7158				double-strand break repair via homologous recombination|positive regulation of transcription from RNA polymerase II promoter	condensed chromosome kinetochore|cytoplasm|nucleoplasm	p53 binding|RNA polymerase II activating transcription factor binding|RNA polymerase II transcription cofactor activity	g.chr15:43748753T>A	U09477	CCDS10096.1, CCDS45250.1, CCDS45251.1	15q15-q21	2007-08-02	2007-08-02		ENSG00000067369	ENSG00000067369			11999	protein-coding gene	gene with protein product		605230	"tumor protein p53-binding protein, 1"			8016121, 9748285	Standard	NM_005657		Approved	53BP1, p202	uc001zrr.4	Q12888	OTTHUMG00000059757	ENST00000263801.3:c.2038A>T	15.37:g.43748753T>A	ENSP00000263801:p.Lys680*					TP53BP1_ENST00000450115.2_Nonsense_Mutation_p.K685*|TP53BP1_ENST00000382039.3_Nonsense_Mutation_p.K685*|TP53BP1_ENST00000382044.4_Nonsense_Mutation_p.K685*	p.K680*	NM_005657.2	NP_005648.1	Q12888	TP53B_HUMAN		GBM - Glioblastoma multiforme(94;1.59e-06)	12	2290	-		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)	680					F8VY86|Q2M1Z7|Q4LE46|Q5FWZ3|Q7Z3U4	Nonsense_Mutation	SNP	ENST00000263801.3	37	c.2038A>T	CCDS10096.1	.	.	.	.	.	.	.	.	.	.	T	38	6.870283	0.97901	.	.	ENSG00000067369	ENST00000263801;ENST00000382044;ENST00000382039;ENST00000450115;ENST00000413546	.	.	.	4.41	3.25	0.37280	.	0.766120	0.12532	N	0.460678	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.8095	5.5694	0.17188	0.0:0.0885:0.1756:0.7359	.	.	.	.	X	680;685;685;685;685	.	ENSP00000263801:K680X	K	-	1	0	TP53BP1	41536045	0.445000	0.25657	0.703000	0.30354	0.504000	0.33889	1.223000	0.32527	0.805000	0.34159	0.460000	0.39030	AAA		0.443	TP53BP1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000132897.3			10	127	0	0	0	0.000442599	0	10	127					A	43748753	T	A	43748753	4	1	152	1	0	0	0	0	0	1	0	0	16380	1821	63	5	3948	5	TP53BP1	15	43748753	Nonsense_Mutation	SNP	T	TCGA-G9-6338-01A-12D-1961-08		43748753	58782639	26	7448											
HS3ST6	64711	broad.mit.edu	37	chr16	1961822	1961822	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	acgacccgtttcaggcccagGaagtcctgcacgcggccgac	8	5	12	16	5	1	0	1	0	0	0	2	3	2	1	4	3	1	2	4	3	1	1			TCGA-G9-6338-01A-12D-1961-08	TCGA-G9-6338-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9708a4f-76b5-4eb5-9831-a1f069096578	e152fd51-11d4-46c4-b803-1b79e8f6cf18	g.chr16:1961822G>A	ENST00000293937.3	-	2	797	c.798C>T	c.(796-798)ttC>ttT	p.F266F	HS3ST6_ENST00000443547.1_Silent_p.F235F|HS3ST6_ENST00000454677.2_Silent_p.F283F			Q96QI5	HS3S6_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 6	266					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity (GO:0008467)			endometrium(2)|lung(2)	4						TCAGGCCCAGGAAGTCCTGCA	0.667																																						ENST00000454677.2																			0				endometrium(2)|lung(2)	4						c.(847-849)ttC>ttT		heparan sulfate (glucosamine) 3-O-sulfotransferase 6							70	81	77					16																	1961822		2197	4300	6497	SO:0001819	synonymous_variant	64711							g.chr16:1961822G>A			16p13.3	2008-10-30	2003-06-11	2003-06-13	ENSG00000162040	ENSG00000162040		"Sulfotransferases, membrane-bound"	14178	protein-coding gene	gene with protein product			"heparan sulfate (glucosamine) 3-O-sulfotransferase 5"	HS3ST5		11157797	Standard	NM_001009606		Approved		uc002cnf.3	Q96QI5	OTTHUMG00000047860	ENST00000293937.3:c.798C>T	16.37:g.1961822G>A						HS3ST6_ENST00000293937.3_Silent_p.F266F|HS3ST6_ENST00000443547.1_Silent_p.F235F	p.F283F			C9JH64	C9JH64_HUMAN			2	914	-			235					Q96RX7	Silent	SNP	ENST00000293937.3	37	c.849C>T																																																																																					0.667	HS3ST6-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001009606		13	143	0	0	0	0.00244969	0	13	143					A	1961822	G	A	1961822	2	1	152	1	0	0	0	0	0	0	0	1	7369	1165	41	3		3	HS3ST6	16	1961822	Silent	SNP	G	TCGA-G9-6338-01A-12D-1961-08		1961822	88392931	27	7449											
CDH3	1001	broad.mit.edu	37	chr16	68732283	68732283	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agaagctggcagacatgtacGgtggcggggaggacgactag	11	5	18	7	3	0	2	0	0	0	2	0	5	0	4	0	6	2	3	0	6	3	2			TCGA-G9-6338-01A-12D-1961-08	TCGA-G9-6338-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9708a4f-76b5-4eb5-9831-a1f069096578	e152fd51-11d4-46c4-b803-1b79e8f6cf18	g.chr16:68732283G>A	ENST00000264012.4	+	16	3014	c.2470G>A	c.(2470-2472)Ggt>Agt	p.G824S	CDH3_ENST00000429102.2_3'UTR|CDH3_ENST00000581171.1_Missense_Mutation_p.G769S	NM_001793.4	NP_001784.2	P22223	CADH3_HUMAN	cadherin 3, type 1, P-cadherin (placental)	824					adherens junction organization (GO:0034332)|canonical Wnt signaling pathway (GO:0060070)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|hair cycle process (GO:0022405)|homophilic cell adhesion (GO:0007156)|keratinization (GO:0031424)|negative regulation of catagen (GO:0051796)|negative regulation of transforming growth factor beta2 production (GO:0032912)|positive regulation of gene expression (GO:0010628)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of keratinocyte proliferation (GO:0010838)|positive regulation of melanin biosynthetic process (GO:0048023)|positive regulation of melanosome transport (GO:1902910)|positive regulation of monophenol monooxygenase activity (GO:0032773)|regulation of hair cycle by canonical Wnt signaling pathway (GO:0060901)|response to drug (GO:0042493)|retina homeostasis (GO:0001895)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)|wound healing (GO:0042060)	cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.?(2)		NS(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(3)|skin(1)|urinary_tract(1)	25		Ovarian(137;0.0564)		OV - Ovarian serous cystadenocarcinoma(108;0.000782)|Epithelial(162;0.0054)|all cancers(182;0.0384)		AGACATGTACGGTGGCGGGGA	0.617																																						ENST00000264012.4																			2	Unknown(2)	p.?(2)	breast(2)	NS(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(3)|skin(1)|urinary_tract(1)	25						c.(2470-2472)Ggt>Agt		cadherin 3, type 1, P-cadherin (placental)							73	71	72					16																	68732283		2198	4300	6498	SO:0001583	missense	1001				adherens junction organization|cell junction assembly|homophilic cell adhesion|response to stimulus|visual perception	integral to membrane	calcium ion binding	g.chr16:68732283G>A	X63629	CCDS10868.1	16q22.1	2013-01-08	2001-12-04		ENSG00000062038	ENSG00000062038		"Cadherins / Major cadherins"	1762	protein-coding gene	gene with protein product		114021	"cadherin 3, P-cadherin (placental)"			1427864	Standard	NM_001793		Approved	CDHP, PCAD	uc002ewf.2	P22223	OTTHUMG00000137560	ENST00000264012.4:c.2470G>A	16.37:g.68732283G>A	ENSP00000264012:p.Gly824Ser					CDH3_ENST00000581171.1_Missense_Mutation_p.G769S|CDH3_ENST00000429102.2_3'UTR	p.G824S	NM_001793.4	NP_001784.2	P22223	CADH3_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.000782)|Epithelial(162;0.0054)|all cancers(182;0.0384)	16	3014	+		Ovarian(137;0.0564)	824					B2R6F4|Q05DI6	Missense_Mutation	SNP	ENST00000264012.4	37	c.2470G>A	CCDS10868.1	.	.	.	.	.	.	.	.	.	.	G	20.5	3.996651	0.74818	.	.	ENSG00000062038	ENST00000264012;ENST00000542274	T	0.78707	-1.2	5.51	3.43	0.39272	Cadherin, cytoplasmic domain (1);	0.000000	0.42294	D	0.000732	D	0.87055	0.6082	M	0.84683	2.71	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.87621	0.2510	10	0.87932	D	0	.	8.8678	0.35298	0.0836:0.1515:0.7649:0.0	.	824	P22223	CADH3_HUMAN	S	824;769	ENSP00000264012:G824S	ENSP00000264012:G824S	G	+	1	0	CDH3	67289784	1.000000	0.71417	0.220000	0.23810	0.349000	0.29174	7.800000	0.85949	1.463000	0.47967	0.655000	0.94253	GGT		0.617	CDH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268896.2	NM_001793		40	58	0	0	0	0.00285205	0	40	58					A	68732283	G	A	68732283	3	1	152	1	0	0	0	0	1	0	0	0	3111	1116	39	2	2532	2	CDH3	16	68732283	Missense_Mutation	SNP	G	TCGA-G9-6338-01A-12D-1961-08	66770461	68732283	21622470	28	7450											
CCDC55	84081	broad.mit.edu	37	chr17	28511696	28511696	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtaagttcaaaaaacagaatAccacaagagaaatgcattct	20	8	6	7	0	2	2	1	0	1	2	2	3	2	2	1	0	3	3	1	0	8	4			TCGA-G9-6338-01A-12D-1961-08	TCGA-G9-6338-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9708a4f-76b5-4eb5-9831-a1f069096578	e152fd51-11d4-46c4-b803-1b79e8f6cf18	g.chr17:28511696A>G	ENST00000247026.5	+	7	744	c.681A>G	c.(679-681)atA>atG	p.I227M	NSRP1_ENST00000540900.3_3'UTR	NM_001261467.1|NM_032141.3	NP_001248396.1|NP_115517.1	Q9H0G5	NSRP1_HUMAN	nuclear speckle splicing regulatory protein 1	227					developmental process (GO:0032502)|mRNA processing (GO:0006397)|nucleocytoplasmic transport (GO:0006913)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing (GO:0008380)	nuclear speck (GO:0016607)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)			autonomic_ganglia(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)	14						AAAACAGAATACCACAAGAGA	0.368																																						ENST00000247026.5																			0				autonomic_ganglia(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)	14						c.(679-681)atA>atG		nuclear speckle splicing regulatory protein 1							58	58	58					17																	28511696		2203	4300	6503	SO:0001583	missense	84081				developmental process|nucleocytoplasmic transport|regulation of alternative nuclear mRNA splicing, via spliceosome	nuclear speck|ribonucleoprotein complex	mRNA binding|protein binding	g.chr17:28511696A>G	AL136806	CCDS11255.1, CCDS74025.1	17q11.2	2011-05-24	2011-05-24	2011-05-24	ENSG00000126653	ENSG00000126653			25305	protein-coding gene	gene with protein product			"coiled-coil domain containing 55"	CCDC55		11230166	Standard	NM_032141		Approved	DKFZP434K1421, NSrp70	uc002heu.4	Q9H0G5	OTTHUMG00000132754	ENST00000247026.5:c.681A>G	17.37:g.28511696A>G	ENSP00000247026:p.Ile227Met					NSRP1_ENST00000540900.3_3'UTR	p.I227M	NM_001261467.1|NM_032141.3	NP_001248396.1|NP_115517.1	Q9H0G5	NSRP1_HUMAN			7	744	+			227					Q6FI71	Missense_Mutation	SNP	ENST00000247026.5	37	c.681A>G	CCDS11255.1	.	.	.	.	.	.	.	.	.	.	A	1.032	-0.681594	0.03353	.	.	ENSG00000126653	ENST00000247026;ENST00000540900;ENST00000394826	T	0.42513	0.97	5.96	0.909	0.19332	.	1.041630	0.07527	N	0.911615	T	0.32224	0.0822	L	0.51422	1.61	0.09310	N	1	B	0.19445	0.036	B	0.11329	0.006	T	0.36792	-0.9733	10	0.48119	T	0.1	0.5117	0.9696	0.01413	0.3897:0.2115:0.0914:0.3074	.	227	Q9H0G5	NSRP1_HUMAN	M	227;158;173	ENSP00000247026:I227M	ENSP00000247026:I227M	I	+	3	3	NSRP1	25535822	0.000000	0.05858	0.001000	0.08648	0.006000	0.05464	0.193000	0.17116	0.408000	0.25621	0.528000	0.53228	ATA		0.368	NSRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256121.2	NM_032141		3	51	0	0	0	6.4e-05	0	3	51					G	28511696	A	G	28511696	3	3	152	1	0	0	0	0	1	0	0	0	2825	381	14	4	707	4	CCDC55	17	28511696	Missense_Mutation	SNP	A	TCGA-G9-6338-01A-12D-1961-08		28511696	52683514	29	7451											
HOXB13	10481	broad.mit.edu	37	chr17	46805442	46805442	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagccaccagcgagagcccAagactggtaactgtccacag	12	4	10	15	1	0	2	0	0	0	2	1	3	1	2	5	1	4	1	5	1	2	1			TCGA-G9-6338-01A-12D-1961-08	TCGA-G9-6338-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9708a4f-76b5-4eb5-9831-a1f069096578	e152fd51-11d4-46c4-b803-1b79e8f6cf18	g.chr17:46805442A>C	ENST00000290295.7	-	1	1098	c.514T>G	c.(514-516)Tgg>Ggg	p.W172G	PRAC2_ENST00000422730.2_RNA	NM_006361.5	NP_006352.2	Q92826	HXB13_HUMAN	homeobox B13	172					angiogenesis (GO:0001525)|epidermis development (GO:0008544)|epithelial cell maturation involved in prostate gland development (GO:0060743)|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis (GO:0060527)|regulation of growth (GO:0040008)|regulation of transcription, DNA-templated (GO:0006355)|response to testosterone (GO:0033574)|response to wounding (GO:0009611)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	sequence-specific DNA binding (GO:0043565)			endometrium(2)|kidney(2)|lung(6)|prostate(1)	11						GCGAGAGCCCAAGACTGGTAA	0.567																																						ENST00000290295.7																			0				endometrium(2)|kidney(2)|lung(6)|prostate(1)	11						c.(514-516)Tgg>Ggg		homeobox B13							76	72	73					17																	46805442		2203	4300	6503	SO:0001583	missense	10481				angiogenesis|epidermis development|response to wounding		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr17:46805442A>C	U57052	CCDS11536.1	17q21.32	2014-09-17	2005-12-22		ENSG00000159184	ENSG00000159184		"Homeoboxes / ANTP class : HOXL subclass"	5112	protein-coding gene	gene with protein product		604607	"homeo box B13"			8756292, 9665387	Standard	NM_006361		Approved		uc002ioa.3	Q92826	OTTHUMG00000159900	ENST00000290295.7:c.514T>G	17.37:g.46805442A>C	ENSP00000290295:p.Trp172Gly						p.W172G	NM_006361.5	NP_006352.2	Q92826	HXB13_HUMAN			1	1098	-			172					B2R878|Q96QM4|Q99810	Missense_Mutation	SNP	ENST00000290295.7	37	c.514T>G	CCDS11536.1	.	.	.	.	.	.	.	.	.	.	A	19.53	3.845232	0.71603	.	.	ENSG00000159184	ENST00000290295	D	0.92249	-3.0	4.79	4.79	0.61399	.	0.000000	0.85682	D	0.000000	D	0.95840	0.8646	M	0.83603	2.65	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	D	0.96343	0.9252	10	0.87932	D	0	.	13.3212	0.60434	1.0:0.0:0.0:0.0	.	172	Q92826	HXB13_HUMAN	G	172	ENSP00000290295:W172G	ENSP00000290295:W172G	W	-	1	0	HOXB13	44160441	1.000000	0.71417	0.998000	0.56505	0.987000	0.75469	8.761000	0.91691	2.023000	0.59567	0.459000	0.35465	TGG		0.567	HOXB13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358087.3	NM_006361		30	41	0	0	0	0.00178596	0	30	41					C	46805442	A	C	46805442	3	2	152	1	0	0	0	0	1	0	0	0	7300	130	5	5	348	5	HOXB13	17	46805442	Missense_Mutation	SNP	A	TCGA-G9-6338-01A-12D-1961-08	18293746	46805442	34389768	30	7452											
SPOP	8405	broad.mit.edu	37	chr17	47696637	47696637	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttggcattcaggatggagAatttgaattttgcccgaact	10	13	10	8	1	1	2	1	1	0	1	1	5	1	3	2	3	2	1	2	3	3	5			TCGA-G9-6338-01A-12D-1961-08	TCGA-G9-6338-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9708a4f-76b5-4eb5-9831-a1f069096578	e152fd51-11d4-46c4-b803-1b79e8f6cf18	g.chr17:47696637A>G	ENST00000393328.2	-	5	676	c.311T>C	c.(310-312)tTc>tCc	p.F104S	SPOP_ENST00000347630.2_Missense_Mutation_p.F104S|SPOP_ENST00000504102.1_Missense_Mutation_p.F104S|SPOP_ENST00000513080.1_5'Flank|SPOP_ENST00000503676.1_Missense_Mutation_p.F104S|SPOP_ENST00000393331.3_Missense_Mutation_p.F104S	NM_003563.3	NP_003554.1	O43791	SPOP_HUMAN	speckle-type POZ protein	104	MATH. {ECO:0000255|PROSITE- ProRule:PRU00129}.|Required for nuclear localization.				glucose homeostasis (GO:0042593)|positive regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902237)|positive regulation of type B pancreatic cell apoptotic process (GO:2000676)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	Cul3-RING ubiquitin ligase complex (GO:0031463)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	ubiquitin protein ligase binding (GO:0031625)			endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						CAGGATGGAGAATTTGAATTT	0.408										Prostate(2;0.17)																												ENST00000393331.3																			0				endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						c.(310-312)tTc>tCc		speckle-type POZ protein							151	139	143					17																	47696637		2203	4300	6503	SO:0001583	missense	8405				mRNA processing	nucleus	protein binding	g.chr17:47696637A>G	AJ000644	CCDS11551.1	17q21.33	2013-01-09			ENSG00000121067	ENSG00000121067		"BTB/POZ domain containing"	11254	protein-coding gene	gene with protein product		602650				9414087	Standard	NM_001007227		Approved	TEF2, BTBD32	uc002ipg.3	O43791	OTTHUMG00000161496	ENST00000393328.2:c.311T>C	17.37:g.47696637A>G	ENSP00000377001:p.Phe104Ser	Prostate(2;0.17)				SPOP_ENST00000504102.1_Missense_Mutation_p.F104S|SPOP_ENST00000503676.1_Missense_Mutation_p.F104S|SPOP_ENST00000347630.2_Missense_Mutation_p.F104S|SPOP_ENST00000393328.2_Missense_Mutation_p.F104S	p.F104S	NM_001007226.1|NM_001007227.1	NP_001007227.1|NP_001007228.1	O43791	SPOP_HUMAN			6	781	-			104			MATH.|Required for nuclear localization.		B2R6S3|D3DTW7|Q53HJ1	Missense_Mutation	SNP	ENST00000393328.2	37	c.311T>C	CCDS11551.1	.	.	.	.	.	.	.	.	.	.	A	25.8	4.671845	0.88348	.	.	ENSG00000121067	ENST00000393328;ENST00000393331;ENST00000347630;ENST00000504102;ENST00000503676;ENST00000513872;ENST00000509079;ENST00000505581;ENST00000507970;ENST00000514121;ENST00000515508	T;T;T;T;T;T;T;T;T;T	0.69806	-0.43;-0.43;-0.43;-0.43;-0.43;-0.43;-0.43;-0.43;-0.43;-0.43	5.52	5.52	0.82312	TRAF-type (1);TRAF-like (1);MATH (3);	0.000000	0.85682	D	0.000000	D	0.87337	0.6152	H	0.96239	3.79	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	D	0.91256	0.5033	10	0.87932	D	0	-15.0693	15.4649	0.75390	1.0:0.0:0.0:0.0	.	104	O43791	SPOP_HUMAN	S	104;104;104;104;104;57;104;104;104;104;104	ENSP00000377001:F104S;ENSP00000377004:F104S;ENSP00000240327:F104S;ENSP00000425905:F104S;ENSP00000420908:F104S;ENSP00000426986:F104S;ENSP00000420960:F104S;ENSP00000426262:F104S;ENSP00000424119:F104S;ENSP00000426537:F104S	ENSP00000240327:F104S	F	-	2	0	SPOP	45051636	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.321000	0.79088	2.317000	0.78254	0.460000	0.39030	TTC		0.408	SPOP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365154.2	NM_003563		44	73	0	0	0	0.00285205	0	44	73					G	47696637	A	G	47696637	3	3	152	1	0	0	0	0	1	0	0	0	15083	246	9	4	841	4	SPOP	17	47696637	Missense_Mutation	SNP	A	TCGA-G9-6338-01A-12D-1961-08	891195	47696637	33498573	31	7453											
SFRS1	6426	broad.mit.edu	37	chr17	56083248	56083249	+	Frame_Shift_Ins	INS	-	-	A																															aactccacgacaccagtgccINSatctcggtaaacatcagcat																										TCGA-G9-6338-01A-12D-1961-08	TCGA-G9-6338-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9708a4f-76b5-4eb5-9831-a1f069096578	e152fd51-11d4-46c4-b803-1b79e8f6cf18	g.chr17:56083248_56083249insA	ENST00000258962.4	-	3	673_674	c.465_466insT	c.(463-468)gatggcfs	p.G156fs	SRSF1_ENST00000585096.1_Intron|SRSF1_ENST00000581497.1_5'Flank|SRSF1_ENST00000582730.2_Frame_Shift_Ins_p.G156fs|SRSF1_ENST00000584773.1_Frame_Shift_Ins_p.G156fs|RP11-159D12.5_ENST00000578794.1_5'Flank	NM_006924.4	NP_008855.1	Q07955	SRSF1_HUMAN	serine/arginine-rich splicing factor 1	156	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				cardiac muscle contraction (GO:0060048)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|mRNA 3'-end processing (GO:0031124)|mRNA 5'-splice site recognition (GO:0000395)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|mRNA splice site selection (GO:0006376)|mRNA splicing, via spliceosome (GO:0000398)|regulation of mRNA splicing, via spliceosome (GO:0048024)|regulation of mRNA stability (GO:0043488)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translation (GO:0006417)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						ACACCAGTGCCATCTCGGTAAA	0.426																																						ENST00000582730.2																			0				breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						c.(463-468)gagcacfs		serine/arginine-rich splicing factor 1																																				SO:0001589	frameshift_variant	6426				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA 5'-splice site recognition|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytoplasm|nuclear speck	nucleotide binding|RNA binding	g.chr17:56083248_56083249insA		CCDS11600.1, CCDS58580.1	17q22	2013-02-12	2010-06-22	2010-06-22	ENSG00000136450	ENSG00000136450		"Serine/arginine-rich splicing factors", "RNA binding motif (RRM) containing"	10780	protein-coding gene	gene with protein product	"splicing factor 2", "pre-mRNA-splicing factor SF2, P33 subunit", "alternate splicing factor", "SR splicing factor 1"	600812	"splicing factor, arginine/serine-rich 1"	SFRS1		8530103, 20516191	Standard	NM_006924		Approved	ASF, SF2, SRp30a, SF2p33, MGC5228	uc002ivi.3	Q07955		ENST00000258962.4:c.466dupT	17.37:g.56083249_56083249dupA	ENSP00000258962:p.Gly156fs					SRSF1_ENST00000584773.1_Frame_Shift_Ins_p.EH155fs|SRSF1_ENST00000585096.1_Intron|SRSF1_ENST00000258962.4_Frame_Shift_Ins_p.EH155fs	p.EH155fs	NM_001078166.1	NP_001071634.1	Q07955	SRSF1_HUMAN			3	588_589	-			155			RRM 2.		B2R6Z7|D3DTZ3|Q13809	Frame_Shift_Ins	INS	ENST00000258962.4	37	c.465_466insT	CCDS11600.1																																																																																				0.426	SRSF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443335.1	NM_006924		22	50						22	50	---	---	---	---	A	56083249	-	A	56083248	7	5	152	1	0	1	1	0	0	0	0	0	14165	594	21	0	342	0	SFRS1	17	56083248	Frame_Shift_Ins	INS	-	TCGA-G9-6338-01A-12D-1961-08	8386611	56083248	25111962	32	7454											
UNC13D	201294	broad.mit.edu	37	chr17	73838576	73838576	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atgacctgcgtgcggtgggtCtcctcctcggggatggtgtg	3	11	17	10	3	1	1	0	1	1	0	4	2	2	2	3	5	2	0	3	5	0	0			TCGA-G9-6338-01A-12D-1961-08	TCGA-G9-6338-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9708a4f-76b5-4eb5-9831-a1f069096578	e152fd51-11d4-46c4-b803-1b79e8f6cf18	g.chr17:73838576C>G	ENST00000207549.4	-	6	886	c.507G>C	c.(505-507)gaG>gaC	p.E169D	UNC13D_ENST00000587504.1_5'UTR|UNC13D_ENST00000412096.2_Missense_Mutation_p.E169D	NM_199242.2	NP_954712.1	Q70J99	UN13D_HUMAN	unc-13 homolog D (C. elegans)	169	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.				defense response to virus (GO:0051607)|germinal center formation (GO:0002467)|granuloma formation (GO:0002432)|natural killer cell degranulation (GO:0043320)|phagocytosis (GO:0006909)|positive regulation of exocytosis (GO:0045921)|regulation of mast cell degranulation (GO:0043304)	endosome (GO:0005768)|exocytic vesicle (GO:0070382)|lysosome (GO:0005764)|membrane (GO:0016020)				central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29			all cancers(21;2.11e-06)|Epithelial(20;2.32e-06)|BRCA - Breast invasive adenocarcinoma(9;0.000618)|LUSC - Lung squamous cell carcinoma(166;0.154)			TGCGGTGGGTCTCCTCCTCGG	0.667									Familial Hemophagocytic Lymphohistiocytosis																													ENST00000207549.4																			0				central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(505-507)gaG>gaC		unc-13 homolog D (C. elegans)							97	80	86					17																	73838576		2203	4300	6503	SO:0001583	missense	201294	Familial Hemophagocytic Lymphohistiocytosis	Familial Cancer Database	FHLH, FHL, Familial Hemophagocytic Reticulosis, FHR	positive regulation of exocytosis|regulation of mast cell degranulation	exocytic vesicle|late endosome|lysosome|membrane|recycling endosome	protein binding	g.chr17:73838576C>G	AK024474	CCDS11730.1	17q25.3	2014-09-17				ENSG00000092929			23147	protein-coding gene	gene with protein product		608897					Standard	NM_199242		Approved	Munc13-4	uc002jpp.3	Q70J99		ENST00000207549.4:c.507G>C	17.37:g.73838576C>G	ENSP00000207549:p.Glu169Asp					UNC13D_ENST00000412096.2_Missense_Mutation_p.E169D|UNC13D_ENST00000587504.1_5'UTR	p.E169D	NM_199242.2	NP_954712.1	Q70J99	UN13D_HUMAN	all cancers(21;2.11e-06)|Epithelial(20;2.32e-06)|BRCA - Breast invasive adenocarcinoma(9;0.000618)|LUSC - Lung squamous cell carcinoma(166;0.154)		6	886	-			169			C2 1.		B4DWG9|Q9H7K5	Missense_Mutation	SNP	ENST00000207549.4	37	c.507G>C	CCDS11730.1	.	.	.	.	.	.	.	.	.	.	C	9.710	1.156943	0.21454	.	.	ENSG00000092929	ENST00000207549;ENST00000412096;ENST00000448606	T;T	0.70282	-0.45;-0.47	4.45	4.45	0.53987	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.267677	0.30667	N	0.009135	T	0.60766	0.2294	L	0.41079	1.255	0.22185	N	0.999302	B	0.27971	0.196	B	0.30943	0.122	T	0.49457	-0.8938	10	0.20519	T	0.43	-9.4632	12.6112	0.56552	0.0:0.9163:0.0:0.0837	.	169	Q70J99	UN13D_HUMAN	D	169	ENSP00000207549:E169D;ENSP00000388093:E169D	ENSP00000207549:E169D	E	-	3	2	UNC13D	71350171	0.999000	0.42202	1.000000	0.80357	0.844000	0.47949	0.703000	0.25646	2.019000	0.59389	0.563000	0.77884	GAG		0.667	UNC13D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448847.2	XM_113950		12	69	0	0	0	0.00136819	0	12	69					G	73838576	C	G	73838576	3	3	152	1	0	0	0	0	1	0	0	0	16984	912	32	5	2873	5	UNC13D	17	73838576	Missense_Mutation	SNP	C	TCGA-G9-6338-01A-12D-1961-08	17755328	73838576	7356634	33	7455											
FBN3	84467	broad.mit.edu	37	chr19	8140171	8140171	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caaagctgggctgtaccttcAcagccatggcctgagctgac	9	8	11	13	0	1	2	1	2	0	0	1	2	1	2	3	2	4	4	3	2	2	2			TCGA-G9-6338-01A-12D-1961-08	TCGA-G9-6338-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9708a4f-76b5-4eb5-9831-a1f069096578	e152fd51-11d4-46c4-b803-1b79e8f6cf18	g.chr19:8140171A>C	ENST00000600128.1	-	60	7992	c.7578T>G	c.(7576-7578)tgT>tgG	p.C2526W	FBN3_ENST00000270509.2_Missense_Mutation_p.C2526W|FBN3_ENST00000601739.1_Missense_Mutation_p.C2526W			Q75N90	FBN3_HUMAN	fibrillin 3	2526	EGF-like 41; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.					proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						CTGTACCTTCACAGCCATGGC	0.602																																						ENST00000600128.1																			0				NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						c.(7576-7578)tgT>tgG		fibrillin 3							51	46	48					19																	8140171		2203	4300	6503	SO:0001583	missense	84467					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent	g.chr19:8140171A>C		CCDS12196.1	19p13	2008-02-05							18794	protein-coding gene	gene with protein product		608529					Standard	NM_032447		Approved		uc002mjf.3	Q75N90		ENST00000600128.1:c.7578T>G	19.37:g.8140171A>C	ENSP00000470498:p.Cys2526Trp					FBN3_ENST00000601739.1_Missense_Mutation_p.C2526W|FBN3_ENST00000270509.2_Missense_Mutation_p.C2526W	p.C2526W			Q75N90	FBN3_HUMAN			60	7992	-			2526			EGF-like 41; calcium-binding.		Q75N91|Q75N92|Q75N93|Q86SJ5|Q96JP8	Missense_Mutation	SNP	ENST00000600128.1	37	c.7578T>G	CCDS12196.1	.	.	.	.	.	.	.	.	.	.	A	13.25	2.180279	0.38511	.	.	ENSG00000142449	ENST00000270509	D	0.91237	-2.81	3.93	-3.17	0.05202	EGF-like region, conserved site (1);EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	0.116409	0.64402	U	0.000014	D	0.95937	0.8677	H	0.98646	4.29	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.92548	0.6047	10	0.87932	D	0	.	6.8287	0.23897	0.5145:0.1233:0.3622:0.0	.	2526	Q75N90	FBN3_HUMAN	W	2526	ENSP00000270509:C2526W	ENSP00000270509:C2526W	C	-	3	2	FBN3	8046171	0.331000	0.24713	0.972000	0.41901	0.298000	0.27526	-0.166000	0.09954	-0.530000	0.06349	0.379000	0.24179	TGT		0.602	FBN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461428.2	NM_032447		22	40	0	0	0	0.00229938	0	22	40					C	8140171	A	C	8140171	3	2	152	1	0	0	0	0	1	0	0	0	5704	157	6	5	871	5	FBN3	19	8140171	Missense_Mutation	SNP	A	TCGA-G9-6338-01A-12D-1961-08		8140171	50988812	34	7456											
SLC24A3	57419	broad.mit.edu	37	chr20	19566136	19566136	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tggcaccatcgtgggctcagCggtattcaacatcctgtgca	8	10	11	12	2	2	0	2	0	0	0	4	0	3	0	2	3	3	4	2	3	2	2			TCGA-G9-6338-01A-12D-1961-08	TCGA-G9-6338-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9708a4f-76b5-4eb5-9831-a1f069096578	e152fd51-11d4-46c4-b803-1b79e8f6cf18	g.chr20:19566136C>T	ENST00000328041.6	+	6	757	c.560C>T	c.(559-561)gCg>gTg	p.A187V		NM_020689.3	NP_065740.2	Q9HC58	NCKX3_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 3	187					ion transport (GO:0006811)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium, potassium:sodium antiporter activity (GO:0008273)|symporter activity (GO:0015293)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						GTGGGCTCAGCGGTATTCAAC	0.527																																						ENST00000328041.6																			0				breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						c.(559-561)gCg>gTg		solute carrier family 24 (sodium/potassium/calcium exchanger), member 3							321	284	297					20																	19566136		2203	4300	6503	SO:0001583	missense	57419					integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity	g.chr20:19566136C>T	AF169257	CCDS13140.1	20p13	2013-05-22			ENSG00000185052	ENSG00000185052		"Solute carriers"	10977	protein-coding gene	gene with protein product		609839					Standard	NM_020689		Approved		uc002wrl.3	Q9HC58	OTTHUMG00000031993	ENST00000328041.6:c.560C>T	20.37:g.19566136C>T	ENSP00000333519:p.Ala187Val						p.A187V	NM_020689.3	NP_065740.2	Q9HC58	NCKX3_HUMAN			6	757	+			187					B1AKV7|Q9BQJ9|Q9BQL7|Q9BQY3|Q9H519	Missense_Mutation	SNP	ENST00000328041.6	37	c.560C>T	CCDS13140.1	.	.	.	.	.	.	.	.	.	.	C	24.9	4.581596	0.86748	.	.	ENSG00000185052	ENST00000328041	T	0.64085	-0.08	5.63	5.63	0.86233	Sodium/calcium exchanger membrane region (1);	0.000000	0.85682	D	0.000000	D	0.87156	0.6107	H	0.98068	4.14	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	D	0.91628	0.5316	9	.	.	.	.	17.1718	0.86832	0.0:1.0:0.0:0.0	.	187	Q9HC58	NCKX3_HUMAN	V	187	ENSP00000333519:A187V	.	A	+	2	0	SLC24A3	19514136	1.000000	0.71417	0.058000	0.19502	0.550000	0.35303	7.468000	0.80943	2.650000	0.89964	0.467000	0.42956	GCG		0.527	SLC24A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078207.4	NM_020689		10	288	0	0	0	0.000978159	0	10	288					T	19566136	C	T	19566136	3	4	152	1	0	0	0	0	1	0	0	0	14467	768	27	1	582	1	SLC24A3	20	19566136	Missense_Mutation	SNP	C	TCGA-G9-6338-01A-12D-1961-08		19566136	43459384	35	7457											
PRAMEF12	390999	broad.mit.edu	37	chr1	12836145	12836145	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgcctgcattcccctagaCaggaaggagcagtttgtcat	9	11	10	11	0	2	1	1	0	1	1	3	3	3	3	3	2	3	3	3	2	2	3			TCGA-G9-6339-01A-12D-A30X-08	TCGA-G9-6339-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e297e93-6cfe-43b1-aeb2-1151c6fe2a8a	23a6d650-d249-4674-a652-4669df3e3d64	g.chr1:12836145C>G	ENST00000357726.4	+	2	774	c.747C>G	c.(745-747)gaC>gaG	p.D249E		NM_001080830.1	NP_001074299.1	O95522	PRA12_HUMAN	PRAME family member 12	249					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)					NS(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(9)|ovary(3)|skin(1)|urinary_tract(1)	23	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00818)|Colorectal(212;5.04e-06)|Kidney(185;4.99e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000198)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		TTCCCCTAGACAGGAAGGAGC	0.498																																						ENST00000357726.4																			0				NS(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(9)|ovary(3)|skin(1)|urinary_tract(1)	23						c.(745-747)gaC>gaG		PRAME family member 12							130	135	133					1																	12836145		2203	4300	6503	SO:0001583	missense	390999							g.chr1:12836145C>G		CCDS41254.1	1p36.21	2013-01-17			ENSG00000116726	ENSG00000116726		"-"	22125	protein-coding gene	gene with protein product							Standard	NM_001080830		Approved	OTTHUMG00000001927	uc001aui.3	O95522	OTTHUMG00000001927	ENST00000357726.4:c.747C>G	1.37:g.12836145C>G	ENSP00000350358:p.Asp249Glu						p.D249E	NM_001080830.1	NP_001074299.1	O95522	PRA12_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00818)|Colorectal(212;5.04e-06)|Kidney(185;4.99e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000198)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)	2	774	+	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)	249						Missense_Mutation	SNP	ENST00000357726.4	37	c.747C>G	CCDS41254.1	.	.	.	.	.	.	.	.	.	.	.	0.010	-1.796742	0.00617	.	.	ENSG00000116726	ENST00000357726	T	0.43294	0.95	2.73	-0.293	0.12835	.	1.404070	0.04582	N	0.395194	T	0.12603	0.0306	N	0.01417	-0.88	0.09310	N	1	B	0.02656	0.0	B	0.08055	0.003	T	0.27468	-1.0073	10	0.02654	T	1	.	2.99	0.05980	0.3014:0.2492:0.4494:0.0	.	249	O95522	PRA12_HUMAN	E	249	ENSP00000350358:D249E	ENSP00000350358:D249E	D	+	3	2	PRAMEF12	12758732	0.000000	0.05858	0.000000	0.03702	0.024000	0.10985	-0.061000	0.11693	-0.065000	0.13021	0.205000	0.17691	GAC		0.498	PRAMEF12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005457.1	XM_372760		22	105	0	0	0	1	0	22	105					G	12836145	C	G	12836145	3	3	153	1	0	0	0	0	1	0	0	0	12428	477	17	5	753	5	PRAMEF12	1	12836145	Missense_Mutation	SNP	C	TCGA-G9-6339-01A-12D-A30X-08		12836145	236414476	1	7458											
SYTL1	84958	broad.mit.edu	37	chr1	27674032	27674032	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctctgaccttgtccgagcGtctatgcgcaggaagaagag	9	8	14	10	3	2	3	0	1	2	2	3	5	3	4	2	2	2	2	2	2	3	2			TCGA-G9-6339-01A-12D-A30X-08	TCGA-G9-6339-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e297e93-6cfe-43b1-aeb2-1151c6fe2a8a	23a6d650-d249-4674-a652-4669df3e3d64	g.chr1:27674032G>A	ENST00000543823.1	+	2	774	c.312G>A	c.(310-312)gcG>gcA	p.A104A	SYTL1_ENST00000318074.5_Silent_p.A104A			Q8IYJ3	SYTL1_HUMAN	synaptotagmin-like 1	104					exocytosis (GO:0006887)|intracellular protein transport (GO:0006886)	extracellular vesicular exosome (GO:0070062)|extrinsic component of plasma membrane (GO:0019897)|melanosome (GO:0042470)|plasma membrane (GO:0005886)	neurexin family protein binding (GO:0042043)			NS(1)|large_intestine(4)|lung(5)|ovary(1)|urinary_tract(1)	12		Colorectal(325;0.000147)|all_lung(284;0.000366)|Lung NSC(340;0.000548)|Renal(390;0.00211)|Breast(348;0.0115)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0908)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.5e-28)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.0013)|KIRC - Kidney renal clear cell carcinoma(1967;0.00158)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		TTGTCCGAGCGTCTATGCGCA	0.632																																						ENST00000543823.1																			0				NS(1)|large_intestine(4)|lung(5)|ovary(1)|urinary_tract(1)	12						c.(310-312)gcG>gcA		synaptotagmin-like 1							60	57	58					1																	27674032		2203	4300	6503	SO:0001819	synonymous_variant	84958				exocytosis|intracellular protein transport	extrinsic to plasma membrane|melanosome|soluble fraction	neurexin binding|Rab GTPase binding	g.chr1:27674032G>A	AK027902	CCDS298.1, CCDS53286.1	1p35.3	2008-02-05			ENSG00000142765	ENSG00000142765			15584	protein-coding gene	gene with protein product		608042				12137562	Standard	NM_032872		Approved	SLP1, JFC1, FLJ14996, exophilin-7	uc001bnw.2	Q8IYJ3	OTTHUMG00000005770	ENST00000543823.1:c.312G>A	1.37:g.27674032G>A						SYTL1_ENST00000318074.5_Silent_p.A104A	p.A104A			Q8IYJ3	SYTL1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.5e-28)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.0013)|KIRC - Kidney renal clear cell carcinoma(1967;0.00158)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)	2	774	+		Colorectal(325;0.000147)|all_lung(284;0.000366)|Lung NSC(340;0.000548)|Renal(390;0.00211)|Breast(348;0.0115)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0908)|all_neural(195;0.0966)	104					Q5SSC9|Q96BB6|Q96GU6|Q96S89|Q96SI0	Silent	SNP	ENST00000543823.1	37	c.312G>A	CCDS53286.1																																																																																				0.632	SYTL1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_032872		19	53	0	0	0	1	0	19	53					A	27674032	G	A	27674032	2	1	153	1	0	0	0	0	0	0	0	1	15479	1132	40	1		1	SYTL1	1	27674032	Silent	SNP	G	TCGA-G9-6339-01A-12D-A30X-08	14837887	27674032	221576589	2	7459											
KIAA0467	23334	broad.mit.edu	37	chr1	43906957	43906957	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctggatcggccagaagacActcggggccggaggcgtcac	8	5	15	13	4	1	2	1	0	0	2	4	4	2	4	3	6	0	0	3	6	1	0			TCGA-G9-6339-01A-12D-A30X-08	TCGA-G9-6339-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e297e93-6cfe-43b1-aeb2-1151c6fe2a8a	23a6d650-d249-4674-a652-4669df3e3d64	g.chr1:43906957A>T	ENST00000562955.1	+	52	7246	c.7246A>T	c.(7246-7248)Act>Tct	p.T2416S	SZT2_ENST00000372442.1_Missense_Mutation_p.T1574S	NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN	seizure threshold 2 homolog (mouse)	2473					central nervous system development (GO:0007417)|corpus callosum morphogenesis (GO:0021540)|embryo development (GO:0009790)|pigmentation (GO:0043473)|post-embryonic development (GO:0009791)|regulation of superoxide dismutase activity (GO:1901668)	extracellular vesicular exosome (GO:0070062)|peroxisome (GO:0005777)				NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						GCCAGAAGACACTCGGGGCCG	0.552																																						ENST00000562955.1																			0				NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						c.(7246-7248)Act>Tct		seizure threshold 2 homolog (mouse)							84	93	90					1																	43906957		2203	4300	6503	SO:0001583	missense	23334					peroxisome		g.chr1:43906957A>T	AB007936	CCDS30694.1, CCDS30694.2	1p34.2	2012-11-19	2011-06-10	2011-06-10	ENSG00000198198	ENSG00000198198			29040	protein-coding gene	gene with protein product	"seizure threshold 2 homolog A (mouse)", "seizure threshold 2 homolog B (mouse)"	615463	"chromosome 1 open reading frame 84", "KIAA0467"	C1orf84, KIAA0467		9455484	Standard	NM_015284		Approved	FLJ10387, SZT2B, RP11-506B15.1, FLJ34502, SZT2A	uc001cjk.3	Q5T011	OTTHUMG00000007423	ENST00000562955.1:c.7246A>T	1.37:g.43906957A>T	ENSP00000457168:p.Thr2416Ser					SZT2_ENST00000372442.1_Missense_Mutation_p.T1574S	p.T2416S	NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN			52	7246	+			2473					A0PJK5|A7E2X4|O75055|Q5JUY7|Q5T012|Q5XKC7|Q6ZNI8|Q6ZT24|Q7Z636|Q8NAY9|Q9H5H7|Q9UFQ8	Missense_Mutation	SNP	ENST00000562955.1	37	c.7246A>T	CCDS30694.2	.	.	.	.	.	.	.	.	.	.	A	10.19	1.281779	0.23392	.	.	ENSG00000198198	ENST00000372442	.	.	.	5.41	5.41	0.78517	.	0.411672	0.28549	N	0.014953	T	0.13970	0.0338	N	0.04508	-0.205	0.19300	N	0.999972	B	0.02656	0.0	B	0.04013	0.001	T	0.29027	-1.0025	9	0.07813	T	0.8	.	6.6541	0.22979	0.7604:0.1558:0.0838:0.0	.	2416	Q5T011-5	.	S	1574	.	ENSP00000361519:T1574S	T	+	1	0	SZT2	43679544	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	2.573000	0.46007	2.186000	0.69663	0.482000	0.46254	ACT		0.552	SZT2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019517.3	NM_015284		39	131	0	0	0	1	0	39	131					T	43906957	A	T	43906957	3	4	153	1	0	0	0	0	1	0	0	0	8178	159	6	5	4862	5	KIAA0467	1	43906957	Missense_Mutation	SNP	A	TCGA-G9-6339-01A-12D-A30X-08	16232925	43906957	205343664	3	7460											
ZNF326	284695	broad.mit.edu	37	chr1	90473286	90473286	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atgcttttggaggaccatcaAcaggcagaggccgaggccga	11	6	14	10	2	1	1	1	0	0	1	1	5	1	3	3	5	2	2	3	5	1	2			TCGA-G9-6339-01A-12D-A30X-08	TCGA-G9-6339-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e297e93-6cfe-43b1-aeb2-1151c6fe2a8a	23a6d650-d249-4674-a652-4669df3e3d64	g.chr1:90473286A>G	ENST00000340281.4	+	5	735	c.592A>G	c.(592-594)Aca>Gca	p.T198A	ZNF326_ENST00000370447.3_Missense_Mutation_p.T109A|ZNF326_ENST00000455342.2_Intron	NM_182976.2	NP_892021.1	Q5BKZ1	ZN326_HUMAN	zinc finger protein 326	198	Gly-rich.				mRNA processing (GO:0006397)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of DNA-templated transcription, elongation (GO:0032784)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	DBIRD complex (GO:0044609)|nuclear matrix (GO:0016363)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|RNA polymerase II core binding (GO:0000993)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(7)|ovary(1)	25		all_lung(203;0.0116)|Lung NSC(277;0.0417)		all cancers(265;0.00728)|Epithelial(280;0.0265)		AGGACCATCAACAGGCAGAGG	0.463																																						ENST00000340281.4																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(7)|ovary(1)	25						c.(592-594)Aca>Gca		zinc finger protein 326							71	74	73					1																	90473286		2203	4300	6503	SO:0001583	missense	284695				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear matrix	DNA binding	g.chr1:90473286A>G	BC013102	CCDS727.1, CCDS728.1	1p22	2012-04-19			ENSG00000162664	ENSG00000162664		"Zinc fingers, C2H2-type"	14104	protein-coding gene	gene with protein product	"ZNF-protein interacting with nuclear mRNPs and DBC1"	614601				22446626	Standard	NM_182976		Approved	Zfp326, ZAN75, FLJ20403, ZIRD	uc001dnq.2	Q5BKZ1	OTTHUMG00000010675	ENST00000340281.4:c.592A>G	1.37:g.90473286A>G	ENSP00000340796:p.Thr198Ala					ZNF326_ENST00000455342.2_Intron|ZNF326_ENST00000370447.2_Missense_Mutation_p.T109A	p.T198A	NM_182976.2	NP_892021.1	Q5BKZ1	ZN326_HUMAN		all cancers(265;0.00728)|Epithelial(280;0.0265)	5	735	+		all_lung(203;0.0116)|Lung NSC(277;0.0417)	198			Gly-rich.		A8MYX1|B4DLN0|B4E179|Q5VW93|Q5VW94|Q5VW96|Q5VW97|Q6NSA2|Q7Z638|Q7Z6C2	Missense_Mutation	SNP	ENST00000340281.4	37	c.592A>G	CCDS727.1	.	.	.	.	.	.	.	.	.	.	A	12.87	2.066685	0.36470	.	.	ENSG00000162664	ENST00000394590;ENST00000340281;ENST00000370447	T;T	0.43688	0.98;0.94	5.84	4.7	0.59300	.	0.138436	0.50627	D	0.000112	T	0.15262	0.0368	L	0.40543	1.245	0.80722	D	1	P;P	0.43431	0.807;0.702	B;B	0.39217	0.294;0.182	T	0.04386	-1.0955	10	0.08599	T	0.76	-10.08	12.3571	0.55182	0.8734:0.0:0.0:0.1266	.	198;198	A8MYX1;Q5BKZ1	.;ZN326_HUMAN	A	198;198;109	ENSP00000340796:T198A;ENSP00000359476:T109A	ENSP00000340796:T198A	T	+	1	0	ZNF326	90245874	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.521000	0.67086	1.000000	0.39049	-0.336000	0.08194	ACA		0.463	ZNF326-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029428.2	NM_181781		7	51	0	0	0	1	0	7	51					G	90473286	A	G	90473286	3	3	153	1	0	0	0	0	1	0	0	0	17843	43	2	4	614	4	ZNF326	1	90473286	Missense_Mutation	SNP	A	TCGA-G9-6339-01A-12D-A30X-08	46566329	90473286	158777335	4	7461											
C1orf103	55791	broad.mit.edu	37	chr1	111494344	111494344	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtcttttcttactggagtatCaggagaaacagaattctgtt	11	15	9	6	0	4	2	1	0	3	2	4	4	4	3	0	2	2	2	0	2	4	6			TCGA-G9-6339-01A-12D-A30X-08	TCGA-G9-6339-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e297e93-6cfe-43b1-aeb2-1151c6fe2a8a	23a6d650-d249-4674-a652-4669df3e3d64	g.chr1:111494344C>T	ENST00000369763.4	-	2	1552	c.1162G>A	c.(1162-1164)Gat>Aat	p.D388N	LRIF1_ENST00000494675.1_Intron|LRIF1_ENST00000485275.2_Intron|RP11-96K19.2_ENST00000440689.1_RNA	NM_018372.3	NP_060842.3	Q5T3J3	LRIF1_HUMAN	ligand dependent nuclear receptor interacting factor 1	388					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	actin cytoskeleton (GO:0015629)|nucleus (GO:0005634)				endometrium(2)|kidney(2)|large_intestine(7)|lung(12)|ovary(2)|skin(1)|urinary_tract(2)	28						ACTGGAGTATCAGGAGAAACA	0.373																																						ENST00000369763.4																			0				endometrium(2)|kidney(2)|large_intestine(7)|lung(12)|ovary(2)|skin(1)|urinary_tract(2)	28						c.(1162-1164)Gat>Aat		ligand dependent nuclear receptor interacting factor 1							173	178	176					1																	111494344		2203	4300	6503	SO:0001583	missense	55791				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear matrix	protein binding	g.chr1:111494344C>T	AY190122	CCDS30800.1, CCDS41366.1	1p13.3	2011-04-15	2011-04-15	2011-04-15	ENSG00000121931	ENSG00000121931			30299	protein-coding gene	gene with protein product	"receptor interacting factor 1"	615354	"chromosome 1 open reading frame 103"	C1orf103		17455211	Standard	NM_018372		Approved	RIF1, FLJ11269	uc001eaa.3	Q5T3J3	OTTHUMG00000011913	ENST00000369763.4:c.1162G>A	1.37:g.111494344C>T	ENSP00000358778:p.Asp388Asn					RP11-96K19.2_ENST00000440689.1_RNA|LRIF1_ENST00000494675.1_Intron|LRIF1_ENST00000485275.2_Intron	p.D388N	NM_018372.3	NP_060842.3	Q5T3J3	LRIF1_HUMAN			2	1552	-			388					Q86XS4|Q8N3B6|Q96HT4|Q9NUM5|Q9NV32	Missense_Mutation	SNP	ENST00000369763.4	37	c.1162G>A	CCDS30800.1	.	.	.	.	.	.	.	.	.	.	C	15.02	2.709654	0.48517	.	.	ENSG00000121931	ENST00000369763	T	0.26957	1.7	5.7	4.8	0.61643	.	0.275250	0.33691	N	0.004659	T	0.07908	0.0198	L	0.27053	0.805	0.80722	D	1	B	0.12630	0.006	B	0.17433	0.018	T	0.07443	-1.0772	10	0.42905	T	0.14	-1.705	8.2218	0.31545	0.0:0.7595:0.1574:0.0831	.	388	Q5T3J3	LRIF1_HUMAN	N	388	ENSP00000358778:D388N	ENSP00000358778:D388N	D	-	1	0	LRIF1	111295867	1.000000	0.71417	0.999000	0.59377	0.922000	0.55478	1.670000	0.37502	1.433000	0.47394	-0.229000	0.12294	GAT		0.373	LRIF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000032932.2	NM_018372		44	158	0	0	0	1	0	44	158					T	111494344	C	T	111494344	3	4	153	1	0	0	0	0	1	0	0	0	1977	826	29	3	1159	3	C1orf103	1	111494344	Missense_Mutation	SNP	C	TCGA-G9-6339-01A-12D-A30X-08	21021058	111494344	137756277	5	7462											
FLG	2312	broad.mit.edu	37	chr1	152279919	152279919	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gagtgtccagatctatctacCaattgctcgtagtgggatcc	9	12	10	10	1	2	1	0	0	2	1	5	3	4	2	3	1	2	2	3	1	4	4			TCGA-G9-6339-01A-12D-A30X-08	TCGA-G9-6339-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e297e93-6cfe-43b1-aeb2-1151c6fe2a8a	23a6d650-d249-4674-a652-4669df3e3d64	g.chr1:152279919C>T	ENST00000368799.1	-	3	7478	c.7443G>A	c.(7441-7443)ttG>ttA	p.L2481L	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2481	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ATCTATCTACCAATTGCTCGT	0.567									Ichthyosis																													ENST00000368799.1																			0				autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424						c.(7441-7443)ttG>ttA		filaggrin							353	325	335					1																	152279919		2203	4300	6503	SO:0001819	synonymous_variant	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152279919C>T	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"EF-hand domain containing"	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.7443G>A	1.37:g.152279919C>T						FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	p.L2481L	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	7478	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		2481			Ser-rich.		Q01720|Q5T583|Q9UC71	Silent	SNP	ENST00000368799.1	37	c.7443G>A	CCDS30860.1																																																																																				0.567	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		8	523	0	0	0	1	0	8	523					T	152279919	C	T	152279919	2	4	153	1	0	0	0	0	0	0	0	1	5922	593	21	3		3	FLG	1	152279919	Silent	SNP	C	TCGA-G9-6339-01A-12D-A30X-08	40785575	152279919	96970702	6	7463											
PBXIP1	57326	broad.mit.edu	37	chr1	154924328	154924328	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tgtcttggaggggctgtgagGggcctgcagggctctctcag	4	10	18	9	0	3	1	1	1	2	0	4	2	3	2	1	6	1	3	1	6	0	1			TCGA-G9-6339-01A-12D-A30X-08	TCGA-G9-6339-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e297e93-6cfe-43b1-aeb2-1151c6fe2a8a	23a6d650-d249-4674-a652-4669df3e3d64	g.chr1:154924328G>A	ENST00000368463.3	-	3	192	c.121C>T	c.(121-123)Cct>Tct	p.P41S	PBXIP1_ENST00000539880.1_Intron|PBXIP1_ENST00000498553.1_Intron|PBXIP1_ENST00000542459.1_Intron|PBXIP1_ENST00000368465.1_Missense_Mutation_p.P12S|PBXIP1_ENST00000368460.3_Missense_Mutation_p.P41S	NM_020524.2	NP_065385.2	Q96AQ6	PBIP1_HUMAN	pre-B-cell leukemia homeobox interacting protein 1	41					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|negative regulation of transcription, DNA-templated (GO:0045892)	cytosol (GO:0005829)|microtubule (GO:0005874)|nucleus (GO:0005634)	transcription corepressor activity (GO:0003714)			breast(1)|kidney(2)|large_intestine(6)|lung(13)|prostate(1)|urinary_tract(1)	24	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			GGGCTGTGAGGGGCCTGCAGG	0.582																																						ENST00000368463.3																			0				breast(1)|kidney(2)|large_intestine(6)|lung(13)|prostate(1)|urinary_tract(1)	24						c.(121-123)Cct>Tct		pre-B-cell leukemia homeobox interacting protein 1							126	131	129					1																	154924328		2203	4300	6503	SO:0001583	missense	57326				cell differentiation|multicellular organismal development|negative regulation of transcription, DNA-dependent	cytosol|microtubule|nucleus	protein binding|transcription corepressor activity	g.chr1:154924328G>A	AF221521	CCDS1074.1	1q22	2008-02-05	2007-01-30		ENSG00000163346	ENSG00000163346			21199	protein-coding gene	gene with protein product			"pre-B-cell leukemia transcription factor interacting protein 1"			7505766, 10825160	Standard	NM_020524		Approved	HPIP	uc001ffr.3	Q96AQ6	OTTHUMG00000037369	ENST00000368463.3:c.121C>T	1.37:g.154924328G>A	ENSP00000357448:p.Pro41Ser					PBXIP1_ENST00000542459.1_Intron|PBXIP1_ENST00000368465.1_Missense_Mutation_p.P12S|PBXIP1_ENST00000368460.3_Missense_Mutation_p.P41S|PBXIP1_ENST00000498553.1_Intron|PBXIP1_ENST00000539880.1_Intron	p.P41S	NM_020524.2	NP_065385.2	Q96AQ6	PBIP1_HUMAN	BRCA - Breast invasive adenocarcinoma(34;0.00034)		3	192	-	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245)		41					Q5T174|Q5T176|Q9H8X6|Q9HA02|Q9HD85	Missense_Mutation	SNP	ENST00000368463.3	37	c.121C>T	CCDS1074.1	.	.	.	.	.	.	.	.	.	.	G	10.28	1.305493	0.23736	.	.	ENSG00000163346	ENST00000368465;ENST00000368463;ENST00000351146;ENST00000368460	T;T;T	0.14391	2.51;2.51;2.51	4.15	2.09	0.27110	.	1.057230	0.07491	N	0.905557	T	0.03915	0.0110	L	0.36672	1.1	0.09310	N	0.999997	B	0.16396	0.017	B	0.16289	0.015	T	0.42447	-0.9451	10	0.66056	D	0.02	-0.0109	5.0079	0.14297	0.2811:0.0:0.7189:0.0	.	41	Q96AQ6	PBIP1_HUMAN	S	12;41;41;41	ENSP00000357450:P12S;ENSP00000357448:P41S;ENSP00000357445:P41S	ENSP00000295523:P41S	P	-	1	0	PBXIP1	153190952	0.018000	0.18449	0.002000	0.10522	0.007000	0.05969	1.085000	0.30840	0.963000	0.38082	0.555000	0.69702	CCT		0.582	PBXIP1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090943.1	NM_020524		39	190	0	0	0	1	0	39	190					A	154924328	G	A	154924328	3	1	153	1	0	0	0	0	1	0	0	0	11496	1232	43	3	2110	3	PBXIP1	1	154924328	Missense_Mutation	SNP	G	TCGA-G9-6339-01A-12D-A30X-08	2644409	154924328	94326293	7	7464											
NES	10763	broad.mit.edu	37	chr1	156641138	156641138	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtatcttcccacctctgcaCatctgcagactgcggcagct	7	10	8	16	2	3	1	0	0	3	1	4	1	4	1	2	1	4	5	2	1	1	2			TCGA-G9-6339-01A-12D-A30X-08	TCGA-G9-6339-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e297e93-6cfe-43b1-aeb2-1151c6fe2a8a	23a6d650-d249-4674-a652-4669df3e3d64	g.chr1:156641138C>T	ENST00000368223.3	-	4	2974	c.2842G>A	c.(2842-2844)Gtg>Atg	p.V948M		NM_006617.1	NP_006608.1	P48681	NEST_HUMAN	nestin	948	Tail.				brain development (GO:0007420)|cell projection morphogenesis (GO:0048858)|central nervous system development (GO:0007417)|embryonic camera-type eye development (GO:0031076)|G2/M transition of mitotic cell cycle (GO:0000086)|negative regulation of catalytic activity (GO:0043086)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of protein binding (GO:0032091)|positive regulation of intermediate filament depolymerization (GO:0030844)|positive regulation of neural precursor cell proliferation (GO:2000179)|stem cell proliferation (GO:0072089)	cytoplasm (GO:0005737)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)	intermediate filament binding (GO:0019215)|structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4)	64	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					CACCTCTGCACATCTGCAGAC	0.552																																						ENST00000368223.3																			0				central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4)	64						c.(2842-2844)Gtg>Atg		nestin							173	186	182					1																	156641138		2203	4300	6503	SO:0001583	missense	10763				brain development|embryonic camera-type eye development|G2/M transition of mitotic cell cycle|negative regulation of apoptosis|positive regulation of intermediate filament depolymerization|positive regulation of neural precursor cell proliferation|stem cell proliferation	cytoplasm|intermediate filament	intermediate filament binding|structural molecule activity	g.chr1:156641138C>T	X65964	CCDS1151.1	1q23	2013-01-16			ENSG00000132688	ENSG00000132688		"Intermediate filaments type IV"	7756	protein-coding gene	gene with protein product		600915				1478958, 9104587	Standard	NM_006617		Approved	FLJ21841	uc001fpq.3	P48681	OTTHUMG00000034299	ENST00000368223.3:c.2842G>A	1.37:g.156641138C>T	ENSP00000357206:p.Val948Met						p.V948M	NM_006617.1	NP_006608.1	P48681	NEST_HUMAN			4	2974	-	all_hematologic(923;0.088)|Hepatocellular(266;0.158)		948			Tail.		O00552|Q3LIF5|Q5SYZ6	Missense_Mutation	SNP	ENST00000368223.3	37	c.2842G>A	CCDS1151.1	.	.	.	.	.	.	.	.	.	.	C	10.42	1.345374	0.24426	.	.	ENSG00000132688	ENST00000368223	D	0.86956	-2.19	4.68	0.0275	0.14155	.	.	.	.	.	T	0.66015	0.2747	L	0.29908	0.895	0.09310	N	1	B	0.21071	0.051	B	0.25405	0.06	T	0.59820	-0.7382	9	0.48119	T	0.1	.	10.1171	0.42598	0.0903:0.6283:0.2813:0.0	.	948	P48681	NEST_HUMAN	M	948	ENSP00000357206:V948M	ENSP00000357206:V948M	V	-	1	0	NES	154907762	0.000000	0.05858	0.000000	0.03702	0.015000	0.08874	0.110000	0.15437	0.028000	0.15324	-0.300000	0.09419	GTG		0.552	NES-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000082844.2	NM_006617		5	247	0	0	0	1	0	5	247					T	156641138	C	T	156641138	3	4	153	1	0	0	0	0	1	0	0	0	10337	478	17	3	2027	3	NES	1	156641138	Missense_Mutation	SNP	C	TCGA-G9-6339-01A-12D-A30X-08	1716810	156641138	92609483	8	7465											
NUP133	55746	broad.mit.edu	37	chr1	229577702	229577702	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tttgctttcaaaacaaactcGaagtaaggattggactttaa	15	13	7	6	1	1	0	1	0	0	0	2	3	1	2	0	2	3	2	0	2	6	6			TCGA-G9-6339-01A-12D-A30X-08	TCGA-G9-6339-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e297e93-6cfe-43b1-aeb2-1151c6fe2a8a	23a6d650-d249-4674-a652-4669df3e3d64	g.chr1:229577702G>A	ENST00000261396.3	-	26	3511	c.3420C>T	c.(3418-3420)ttC>ttT	p.F1140F	NUP133_ENST00000537506.1_Silent_p.F1124F|RP5-1068B5.3_ENST00000434311.1_lincRNA	NM_018230.2	NP_060700.2	Q8WUM0	NU133_HUMAN	nucleoporin 133kDa	1140					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA export from nucleus (GO:0006406)|nuclear pore organization (GO:0006999)|paraxial mesoderm development (GO:0048339)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)|nuclear pore outer ring (GO:0031080)	nucleocytoplasmic transporter activity (GO:0005487)			NS(1)|breast(7)|endometrium(1)|kidney(6)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(4)	56	Breast(184;0.104)|Ovarian(103;0.249)	Prostate(94;0.167)				AAACAAACTCGAAGTAAGGAT	0.363																																						ENST00000261396.3																			0				NS(1)|breast(7)|endometrium(1)|kidney(6)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(4)	56						c.(3418-3420)ttC>ttT		nucleoporin 133kDa							91	99	96					1																	229577702		2203	4300	6503	SO:0001819	synonymous_variant	55746				carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|nuclear pore organization|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex	nucleocytoplasmic transporter activity|protein binding	g.chr1:229577702G>A		CCDS1579.1	1q42.13	2008-02-05	2002-08-29		ENSG00000069248	ENSG00000069248			18016	protein-coding gene	gene with protein product		607613	"nucleoporin 133kD"			11684705	Standard	NM_018230		Approved	FLJ10814	uc001htn.3	Q8WUM0	OTTHUMG00000039462	ENST00000261396.3:c.3420C>T	1.37:g.229577702G>A						NUP133_ENST00000537506.1_Silent_p.F1124F|NUP133_ENST00000366679.1_Intron	p.F1140F	NM_018230.2	NP_060700.2	Q8WUM0	NU133_HUMAN			26	3511	-	Breast(184;0.104)|Ovarian(103;0.249)	Prostate(94;0.167)	1140					B2RAZ8|Q5T8N0|Q9H9W2|Q9NV71|Q9NVC4	Silent	SNP	ENST00000261396.3	37	c.3420C>T	CCDS1579.1																																																																																				0.363	NUP133-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095224.1	NM_018230		24	68	0	0	0	1	0	24	68					A	229577702	G	A	229577702	2	1	153	1	0	0	0	0	0	0	0	1	10754	1049	37	2		2	NUP133	1	229577702	Silent	SNP	G	TCGA-G9-6339-01A-12D-A30X-08	72936564	229577702	19672919	9	7466											
NT5C1B	93034	broad.mit.edu	37	chr2	18745235	18745235	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtctatctctagaccccagcGtcgaagggtcttcagcacac	9	9	9	14	2	4	1	1	0	3	1	6	2	4	1	2	1	2	1	2	1	3	3			TCGA-G9-6339-01A-12D-A30X-08	TCGA-G9-6339-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e297e93-6cfe-43b1-aeb2-1151c6fe2a8a	23a6d650-d249-4674-a652-4669df3e3d64	g.chr2:18745235G>A	ENST00000359846.2	-	10	1737	c.1660C>T	c.(1660-1662)Cgc>Tgc	p.R554C	NT5C1B_ENST00000600945.1_Missense_Mutation_p.R554C|NT5C1B-RDH14_ENST00000532967.1_Missense_Mutation_p.R554C|NT5C1B_ENST00000304081.4_Missense_Mutation_p.R494C	NM_001002006.2|NM_001199086.1|NM_001199087.1|NM_001199088.1	NP_001002006.1|NP_001186015.1|NP_001186016.1|NP_001186017.1	Q96P26	5NT1B_HUMAN	5'-nucleotidase, cytosolic IB	554					nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide catabolic process (GO:0006195)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|nucleus (GO:0005634)	5'-nucleotidase activity (GO:0008253)|magnesium ion binding (GO:0000287)|nucleotide binding (GO:0000166)			endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	29	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.177)	Ovarian(717;0.208)				AGACCCCAGCGTCGAAGGGTC	0.522																																						ENST00000304081.4																			0				endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	29						c.(1480-1482)Cgc>Tgc		5'-nucleotidase, cytosolic IB							82	82	82					2																	18745235		2203	4300	6503	SO:0001583	missense	93034							g.chr2:18745235G>A	AF356185	CCDS33149.1, CCDS33150.1	2p24.2	2010-08-13			ENSG00000185013	ENSG00000185013	3.1.3.5		17818	protein-coding gene	gene with protein product		610526				11690631	Standard	NM_033253		Approved	AIRP, CN-IB		Q96P26	OTTHUMG00000151765	ENST00000359846.2:c.1660C>T	2.37:g.18745235G>A	ENSP00000352904:p.Arg554Cys					NT5C1B_ENST00000359846.2_Missense_Mutation_p.R554C|NT5C1B_ENST00000600945.1_Missense_Mutation_p.R554C|NT5C1B-RDH14_ENST00000532967.1_Missense_Mutation_p.R554C	p.R494C	NM_033253.3	NP_150278.2					9	1580	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.177)	Ovarian(717;0.208)						B5MCR0|B7ZVX7|Q53RX2|Q8N9W3|Q8NA26|Q96DU5|Q96KE6|Q96M25|Q96SA3	Missense_Mutation	SNP	ENST00000359846.2	37	c.1480C>T	CCDS33150.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	25.0|25.0	4.589018|4.589018	0.86851|0.86851	.|.	.|.	ENSG00000250741;ENSG00000185013;ENSG00000185013|ENSG00000185013	ENST00000532967;ENST00000304081;ENST00000359846|ENST00000418427	.|.	.|.	.|.	6.16|6.16	4.31|4.31	0.51392|0.51392	.|.	0.206930|.	0.64402|.	D|.	0.000019|.	T|T	0.55194|0.55194	0.1905|0.1905	L|L	0.43152|0.43152	1.355|1.355	0.45648|0.45648	D|D	0.99857|0.99857	D;D;D;D;D;D;D|.	0.89917|.	0.999;0.999;0.999;0.999;0.999;0.999;1.0|.	D;D;D;D;D;D;D|.	0.72625|.	0.953;0.953;0.953;0.953;0.921;0.953;0.978|.	T|T	0.47032|0.47032	-0.9148|-0.9148	9|5	0.66056|.	D|.	0.02|.	-20.4093|-20.4093	8.4862|8.4862	0.33074|0.33074	0.0:0.1221:0.5396:0.3383|0.0:0.1221:0.5396:0.3383	.|.	537;571;494;537;494;554;554|.	E7EXB7;B4DZ86;B4DXQ9;B4DXZ9;Q96P26-2;Q96P26;Q96P26-4|.	.;.;.;.;.;5NT1B_HUMAN;.|.	C|M	554;494;554|208	.|.	ENSP00000305979:R494C|.	R|T	-|-	1|2	0|0	NT5C1B-RDH14;NT5C1B|NT5C1B	18608716|18608716	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	3.867000|3.867000	0.56047|0.56047	2.937000|2.937000	0.99478|0.99478	0.650000|0.650000	0.86243|0.86243	CGC|ACG		0.522	NT5C1B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000323822.1			16	63	0	0	0	1	0	16	63					A	18745235	G	A	18745235	3	1	153	1	0	0	0	0	1	0	0	0	10686	1145	40	1	176	1	NT5C1B	2	18745235	Missense_Mutation	SNP	G	TCGA-G9-6339-01A-12D-A30X-08		18745235	224454138	10	7467											
TSGA10	80705	broad.mit.edu	37	chr2	99725896	99725896	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tggacttttagacctacttcGcatcatctttctcaaatgtt	9	17	5	10	1	3	1	2	0	2	1	5	2	3	2	1	1	1	2	1	1	3	6			TCGA-G9-6339-01A-12D-A30X-08	TCGA-G9-6339-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e297e93-6cfe-43b1-aeb2-1151c6fe2a8a	23a6d650-d249-4674-a652-4669df3e3d64	g.chr2:99725896G>A	ENST00000393483.3	-	6	851	c.7C>T	c.(7-9)Cga>Tga	p.R3*	TSGA10_ENST00000478090.1_5'UTR|TSGA10_ENST00000539964.1_Nonsense_Mutation_p.R3*|TSGA10_ENST00000542655.1_Nonsense_Mutation_p.R3*|TSGA10_ENST00000355053.4_Nonsense_Mutation_p.R3*|TSGA10_ENST00000410001.1_Nonsense_Mutation_p.R3*	NM_025244.2	NP_079520.1	Q9BZW7	TSG10_HUMAN	testis specific, 10	3					cell projection assembly (GO:0030031)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|membrane (GO:0016020)|motile cilium (GO:0031514)|neuron projection (GO:0043005)|nucleus (GO:0005634)				NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	34						GACCTACTTCGCATCATCTTT	0.393																																						ENST00000393483.3																			0				NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	34						c.(7-9)Cga>Tga		testis specific, 10							152	137	142					2																	99725896		2203	4300	6503	SO:0001587	stop_gained	80705				spermatogenesis	cytoplasm|nuclear membrane		g.chr2:99725896G>A	AF254756	CCDS2037.1	2q11.2	2009-08-06			ENSG00000135951	ENSG00000135951			14927	protein-coding gene	gene with protein product	"cancer/testis antigen 79"	607166				11179690	Standard	NM_025244		Approved	CEP4L, CT79	uc002szi.4	Q9BZW7	OTTHUMG00000130637	ENST00000393483.3:c.7C>T	2.37:g.99725896G>A	ENSP00000377123:p.Arg3*					TSGA10_ENST00000478090.1_5'UTR|TSGA10_ENST00000355053.4_Nonsense_Mutation_p.R3*|TSGA10_ENST00000542655.1_Nonsense_Mutation_p.R3*|TSGA10_ENST00000539964.1_Nonsense_Mutation_p.R3*|TSGA10_ENST00000410001.1_Nonsense_Mutation_p.R3*	p.R3*	NM_025244.2	NP_079520.1	Q9BZW7	TSG10_HUMAN			6	851	-			3					B7Z925|D3DVH7|Q8NEP0|Q9BWX0	Nonsense_Mutation	SNP	ENST00000393483.3	37	c.7C>T	CCDS2037.1	.	.	.	.	.	.	.	.	.	.	T	41	9.160297	0.99085	.	.	ENSG00000135951	ENST00000393483;ENST00000410001;ENST00000355053;ENST00000539964;ENST00000409564;ENST00000393482;ENST00000542655	.	.	.	5.18	4.02	0.46733	.	0.068641	0.56097	D	0.000021	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-14.2188	11.0639	0.47964	0.0:0.0:0.4985:0.5015	.	.	.	.	X	3	.	ENSP00000347161:R3X	R	-	1	2	TSGA10	99092328	0.417000	0.25432	0.994000	0.49952	0.985000	0.73830	0.434000	0.21494	0.988000	0.38734	-0.335000	0.08231	CGA		0.393	TSGA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253125.1	NM_182911		9	52	0	0	0	1	0	9	52					A	99725896	G	A	99725896	4	1	153	1	0	0	0	0	0	1	0	0	16614	1095	38	1	2153	1	TSGA10	2	99725896	Nonsense_Mutation	SNP	G	TCGA-G9-6339-01A-12D-A30X-08	80980661	99725896	143473477	11	7468											
SULT1C3	442038	broad.mit.edu	37	chr2	108863658	108863658	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcccagattcccaatggcgaAgattgagaaaaacgctccca	14	7	8	12	2	0	3	0	1	0	3	3	5	3	3	3	1	1	1	3	1	4	2			TCGA-G9-6339-01A-12D-A30X-08	TCGA-G9-6339-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e297e93-6cfe-43b1-aeb2-1151c6fe2a8a	23a6d650-d249-4674-a652-4669df3e3d64	g.chr2:108863658A>G	ENST00000329106.2	+	1	8	c.8A>G	c.(7-9)aAg>aGg	p.K3R	SULT1C3_ENST00000376700.1_Missense_Mutation_p.K3R	NM_001008743.1	NP_001008743.1	Q6IMI6	ST1C3_HUMAN	sulfotransferase family, cytosolic, 1C, member 3	3					sulfur compound metabolic process (GO:0006790)	cytoplasm (GO:0005737)	alcohol sulfotransferase activity (GO:0004027)|aryl sulfotransferase activity (GO:0004062)			breast(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(4)	16						CCAATGGCGAAGATTGAGAAA	0.358																																						ENST00000329106.2																			0				breast(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(4)	16						c.(7-9)aAg>aGg		sulfotransferase family, cytosolic, 1C, member 3							71	75	74					2																	108863658		2203	4300	6503	SO:0001583	missense	442038					cytoplasm	alcohol sulfotransferase activity	g.chr2:108863658A>G	BC146362	CCDS33267.1	2q12.3	2007-07-26			ENSG00000196228	ENSG00000196228		"Sulfotransferases, cytosolic"	33543	protein-coding gene	gene with protein product						14676822, 17425406	Standard	NM_001008743		Approved		uc010ywo.2	Q6IMI6	OTTHUMG00000153227	ENST00000329106.2:c.8A>G	2.37:g.108863658A>G	ENSP00000333310:p.Lys3Arg					SULT1C3_ENST00000376700.1_Missense_Mutation_p.K3R	p.K3R	NM_001008743.1	NP_001008743.1	Q6IMI6	ST1C3_HUMAN			1	8	+			3					Q6IMI5	Missense_Mutation	SNP	ENST00000329106.2	37	c.8A>G	CCDS33267.1	.	.	.	.	.	.	.	.	.	.	A	0.041	-1.285746	0.01387	.	.	ENSG00000196228	ENST00000329106;ENST00000376700	T;T	0.01484	4.84;4.84	2.13	-0.641	0.11490	.	6.948220	0.01455	U	0.015648	T	0.01254	0.0041	N	0.08118	0	0.09310	N	1	B	0.13145	0.007	B	0.12156	0.007	T	0.47045	-0.9147	10	0.14252	T	0.57	.	5.9517	0.19250	0.595:0.0:0.0:0.405	.	3	Q6IMI6	ST1C3_HUMAN	R	3	ENSP00000333310:K3R;ENSP00000365890:K3R	ENSP00000333310:K3R	K	+	2	0	SULT1C3	108230090	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.235000	0.09016	-0.604000	0.05760	-2.086000	0.00376	AAG		0.358	SULT1C3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000330255.1	NM_001008743		13	63	0	0	0	1	0	13	63					G	108863658	A	G	108863658	3	3	153	1	0	0	0	0	1	0	0	0	15375	72	3	4	10	4	SULT1C3	2	108863658	Missense_Mutation	SNP	A	TCGA-G9-6339-01A-12D-A30X-08	9137762	108863658	134335715	12	7469											
GCC2	9648	broad.mit.edu	37	chr2	109086210	109086210	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaatgagttgatggcagtacGttccaaatacagtgaagaca	16	9	10	6	1	0	4	0	3	0	1	1	4	1	4	1	1	2	4	1	1	5	4			TCGA-G9-6339-01A-12D-A30X-08	TCGA-G9-6339-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e297e93-6cfe-43b1-aeb2-1151c6fe2a8a	23a6d650-d249-4674-a652-4669df3e3d64	g.chr2:109086210G>T	ENST00000309863.6	+	6	1139	c.425G>T	c.(424-426)cGt>cTt	p.R142L	GCC2_ENST00000485546.1_3'UTR	NM_181453.3	NP_852118	Q8IWJ2	GCC2_HUMAN	GRIP and coiled-coil domain containing 2	142					Golgi ribbon formation (GO:0090161)|late endosome to Golgi transport (GO:0034499)|microtubule anchoring (GO:0034453)|microtubule organizing center organization (GO:0031023)|protein localization to Golgi apparatus (GO:0034067)|protein targeting to Golgi (GO:0000042)|protein targeting to lysosome (GO:0006622)|recycling endosome to Golgi transport (GO:0071955)|regulation of protein exit from endoplasmic reticulum (GO:0070861)|retrograde transport, endosome to Golgi (GO:0042147)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	identical protein binding (GO:0042802)			breast(8)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	54						ATGGCAGTACGTTCCAAATAC	0.338																																						ENST00000309863.6																			0				breast(8)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	54						c.(424-426)cGt>cTt		GRIP and coiled-coil domain containing 2							78	82	80					2																	109086210		2203	4300	6503	SO:0001583	missense	9648				Golgi ribbon formation|late endosome to Golgi transport|microtubule anchoring|microtubule organizing center organization|protein localization in Golgi apparatus|protein targeting to lysosome|recycling endosome to Golgi transport|regulation of protein exit from endoplasmic reticulum	membrane|trans-Golgi network	identical protein binding	g.chr2:109086210G>T	BC020645	CCDS33268.1	2q12.3	2008-02-05	2004-03-05		ENSG00000135968	ENSG00000135968			23218	protein-coding gene	gene with protein product		612711	"GRIP and coiled-coil domain-containing 2"			12446665	Standard	NM_181453		Approved	GCC185, KIAA0336	uc002tec.3	Q8IWJ2	OTTHUMG00000153214	ENST00000309863.6:c.425G>T	2.37:g.109086210G>T	ENSP00000307939:p.Arg142Leu					GCC2_ENST00000485546.1_3'UTR	p.R142L	NM_181453.3	NP_852118.1	Q8IWJ2	GCC2_HUMAN			6	1139	+			142					A6H8X8|O15045|Q4ZG46|Q8TDH3|Q9H2G8	Missense_Mutation	SNP	ENST00000309863.6	37	c.425G>T	CCDS33268.1	.	.	.	.	.	.	.	.	.	.	G	1.048	-0.676657	0.03378	.	.	ENSG00000135968	ENST00000435553;ENST00000309863;ENST00000409821;ENST00000409896	T	0.30182	1.54	5.37	2.92	0.33932	.	0.573392	0.19060	N	0.123788	T	0.14527	0.0351	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.23904	-1.0175	10	0.07482	T	0.82	.	13.6164	0.62110	0.9323:0.0:0.0677:0.0	.	142	Q8IWJ2	GCC2_HUMAN	L	142;142;145;105	ENSP00000307939:R142L	ENSP00000307939:R142L	R	+	2	0	GCC2	108452642	0.997000	0.39634	0.016000	0.15963	0.007000	0.05969	3.564000	0.53791	0.413000	0.25759	-1.799000	0.00621	CGT		0.338	GCC2-014	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358516.3	NM_014635		22	52	1	0	4.35082e-09	1	4.49117e-09	22	52					T	109086210	G	T	109086210	3	4	153	1	0	0	0	0	1	0	0	0	6286	1145	40	5	447	5	GCC2	2	109086210	Missense_Mutation	SNP	G	TCGA-G9-6339-01A-12D-A30X-08	222552	109086210	134113163	13	7470											
SPOPL	339745	broad.mit.edu	37	chr2	139318404	139318404	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaataaatgatttagacccTgaagtttttaaagaaatgat	18	13	7	3	0	0	5	0	3	0	2	0	6	0	5	1	0	0	1	1	0	8	6			TCGA-G9-6339-01A-12D-A30X-08	TCGA-G9-6339-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e297e93-6cfe-43b1-aeb2-1151c6fe2a8a	23a6d650-d249-4674-a652-4669df3e3d64	g.chr2:139318404T>C	ENST00000280098.4	+	8	1123	c.744T>C	c.(742-744)ccT>ccC	p.P248P		NM_001001664.2	NP_001001664.1	Q6IQ16	SPOPL_HUMAN	speckle-type POZ protein-like	248	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				negative regulation of protein ubiquitination (GO:0031397)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination (GO:0016567)	Cul3-RING ubiquitin ligase complex (GO:0031463)|nucleus (GO:0005634)				breast(2)|cervix(2)|endometrium(2)|large_intestine(2)|lung(11)|skin(2)	21				BRCA - Breast invasive adenocarcinoma(221;0.0296)		ATTTAGACCCTGAAGTTTTTA	0.333																																						ENST00000280098.4																			0				breast(2)|cervix(2)|endometrium(2)|large_intestine(2)|lung(11)|skin(2)	21						c.(742-744)ccT>ccC		speckle-type POZ protein-like							71	75	74					2																	139318404		2203	4300	6503	SO:0001819	synonymous_variant	339745					nucleus		g.chr2:139318404T>C		CCDS33298.1	2q22.1	2013-01-09			ENSG00000144228	ENSG00000144228		"BTB/POZ domain containing"	27934	protein-coding gene	gene with protein product	"HIB homolog 2", "roadkill homolog 2"						Standard	NM_001001664		Approved	BTBD33	uc002tvh.3	Q6IQ16	OTTHUMG00000153635	ENST00000280098.4:c.744T>C	2.37:g.139318404T>C							p.P248P	NM_001001664.2	NP_001001664.1	Q6IQ16	SPOPL_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0296)	8	1123	+			248			BTB.			Silent	SNP	ENST00000280098.4	37	c.744T>C	CCDS33298.1																																																																																				0.333	SPOPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331897.1			3	52	0	0	0	1	0	3	52					C	139318404	T	C	139318404	2	2	153	1	0	0	0	0	0	0	0	1	15084	1567	55	4		4	SPOPL	2	139318404	Silent	SNP	T	TCGA-G9-6339-01A-12D-A30X-08	30232194	139318404	103880969	14	7471											
RPL37	6167	broad.mit.edu	37	chr5	40834355	40834355	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tatttcgtcttttagccttgGcactccagttatctaaaaca	10	16	5	10	1	2	0	0	0	2	0	4	0	3	0	2	1	2	2	2	1	5	7			TCGA-G9-6339-01A-12D-A30X-08	TCGA-G9-6339-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e297e93-6cfe-43b1-aeb2-1151c6fe2a8a	23a6d650-d249-4674-a652-4669df3e3d64	g.chr5:40834355G>C	ENST00000274242.5	-	3	301	c.152C>G	c.(151-153)gCc>gGc	p.A51G	RPL37_ENST00000504562.1_5'UTR|RPL37_ENST00000508493.1_Missense_Mutation_p.A51G|SNORD72_ENST00000390994.1_RNA|RPL37_ENST00000509877.1_Intron	NM_000997.4	NP_000988.1	P61927	RL37_HUMAN	ribosomal protein L37	51					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)	metal ion binding (GO:0046872)|RNA binding (GO:0003723)|rRNA binding (GO:0019843)|structural constituent of ribosome (GO:0003735)			lung(3)|ovary(1)	4		Breast(839;0.238)				TTTAGCCTTGGCACTCCAGTT	0.408																																					Colon(188;1411 2035 4978 19588 31462)	ENST00000274242.5																			0				lung(3)|ovary(1)	4						c.(151-153)gCc>gGc		ribosomal protein L37							106	99	101					5																	40834355		2203	4300	6503	SO:0001583	missense	6167				endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	metal ion binding|protein binding|rRNA binding|structural constituent of ribosome	g.chr5:40834355G>C	L11567	CCDS3934.1	5p13.1	2013-09-23			ENSG00000145592	ENSG00000145592		"L ribosomal proteins"	10347	protein-coding gene	gene with protein product	"60S ribosomal protein L37a"	604181				7545944, 9582194	Standard	NM_000997		Approved	L37	uc003jme.1	P61927	OTTHUMG00000094774	ENST00000274242.5:c.152C>G	5.37:g.40834355G>C	ENSP00000274242:p.Ala51Gly					RPL37_ENST00000509877.1_Intron|RPL37_ENST00000508493.1_Missense_Mutation_p.A51G|RPL37_ENST00000504562.1_5'UTR	p.A51G	NM_000997.4	NP_000988.1	P61927	RL37_HUMAN			3	301	-		Breast(839;0.238)	51					B2R4H2|P02403|Q6IBB4|Q99883	Missense_Mutation	SNP	ENST00000274242.5	37	c.152C>G	CCDS3934.1	.	.	.	.	.	.	.	.	.	.	G	17.08	3.297490	0.60086	.	.	ENSG00000145592	ENST00000274242;ENST00000508493	T	0.45668	0.89	5.21	5.21	0.72293	Ribosomal protein L37ae/L37e, N-terminal (1);Ribosomal protein, zinc-binding domain (1);	0.000000	0.85682	D	0.000000	T	0.38026	0.1025	.	.	.	0.80722	D	1	B	0.12013	0.005	B	0.20955	0.032	T	0.10870	-1.0611	9	0.34782	T	0.22	.	18.7591	0.91843	0.0:0.0:1.0:0.0	.	51	P61927	RL37_HUMAN	G	51	ENSP00000274242:A51G	ENSP00000274242:A51G	A	-	2	0	RPL37	40870112	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	8.027000	0.88791	2.435000	0.82474	0.563000	0.77884	GCC		0.408	RPL37-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000211583.2	NM_000997		15	57	0	0	0	1	0	15	57					C	40834355	G	C	40834355	3	2	153	1	0	0	0	0	1	0	0	0	13589	1203	42	5	149	5	RPL37	5	40834355	Missense_Mutation	SNP	G	TCGA-G9-6339-01A-12D-A30X-08		40834355	140080905	15	7472											
HCN1	348980	broad.mit.edu	37	chr5	45695922	45695922	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaactgcctctgcatgaagcCgtactgccgccggggcccct	6	7	12	16	3	1	1	0	1	1	0	1	2	1	1	6	2	6	2	6	2	3	1			TCGA-G9-6339-01A-12D-A30X-08	TCGA-G9-6339-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e297e93-6cfe-43b1-aeb2-1151c6fe2a8a	23a6d650-d249-4674-a652-4669df3e3d64	g.chr5:45695922C>T	ENST00000303230.4	-	1	331	c.274G>A	c.(274-276)Ggc>Agc	p.G92S		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	92	Involved in subunit assembly. {ECO:0000250}.				apical protein localization (GO:0045176)|cellular response to cAMP (GO:0071320)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|retinal cone cell development (GO:0046549)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|intracellular cAMP activated cation channel activity (GO:0005222)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated sodium channel activity (GO:0005248)			NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						TGCATGAAGCCGTACTGCCGC	0.697																																						ENST00000303230.4																			0				NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						c.(274-276)Ggc>Agc		hyperpolarization activated cyclic nucleotide-gated potassium channel 1							21	24	23					5																	45695922		2175	4241	6416	SO:0001583	missense	348980					integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity	g.chr5:45695922C>T	AF064876	CCDS3952.1	5p12	2011-07-05			ENSG00000164588	ENSG00000164588		"Voltage-gated ion channels / Cyclic nucleotide-regulated channels"	4845	protein-coding gene	gene with protein product		602780		BCNG1		9405696, 9630217, 16382102	Standard	NM_021072		Approved	BCNG-1, HAC-2	uc003jok.3	O60741	OTTHUMG00000131155	ENST00000303230.4:c.274G>A	5.37:g.45695922C>T	ENSP00000307342:p.Gly92Ser						p.G92S	NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN			1	331	-			92			Involved in subunit assembly (By similarity).			Missense_Mutation	SNP	ENST00000303230.4	37	c.274G>A	CCDS3952.1	.	.	.	.	.	.	.	.	.	.	C	14.89	2.670384	0.47677	.	.	ENSG00000164588	ENST00000303230	D	0.97232	-4.3	4.18	4.18	0.49190	.	0.000000	0.46758	D	0.000279	D	0.91133	0.7208	N	0.17082	0.46	0.58432	D	0.999997	P	0.42161	0.772	B	0.32805	0.153	D	0.90932	0.4791	10	0.15066	T	0.55	.	16.2688	0.82603	0.0:1.0:0.0:0.0	.	92	O60741	HCN1_HUMAN	S	92	ENSP00000307342:G92S	ENSP00000307342:G92S	G	-	1	0	HCN1	45731679	0.984000	0.35163	0.999000	0.59377	0.902000	0.53008	2.679000	0.46909	2.132000	0.65825	0.462000	0.41574	GGC		0.697	HCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253847.1	NM_021072		7	28	0	0	0	1	0	7	28					T	45695922	C	T	45695922	3	4	153	1	0	0	0	0	1	0	0	0	6996	652	23	2	2430	2	HCN1	5	45695922	Missense_Mutation	SNP	C	TCGA-G9-6339-01A-12D-A30X-08	4861567	45695922	135219338	16	7473											
GLRA1	2741	broad.mit.edu	37	chr5	151239422	151239422	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ggtgatctcatggaagtgggCccccttctcgttggcaaaga	8	10	13	10	1	2	2	1	1	2	1	4	3	2	3	2	4	0	2	2	4	2	2			TCGA-G9-6339-01A-12D-A30X-08	TCGA-G9-6339-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e297e93-6cfe-43b1-aeb2-1151c6fe2a8a	23a6d650-d249-4674-a652-4669df3e3d64	g.chr5:151239422C>T	ENST00000455880.2	-	4	686	c.400G>A	c.(400-402)Gcc>Acc	p.A134T	GLRA1_ENST00000545569.1_Missense_Mutation_p.A51T|GLRA1_ENST00000471351.2_5'UTR|GLRA1_ENST00000274576.4_Missense_Mutation_p.A134T			P23415	GLRA1_HUMAN	glycine receptor, alpha 1	134					acrosome reaction (GO:0007340)|action potential (GO:0001508)|adult walking behavior (GO:0007628)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|muscle contraction (GO:0006936)|negative regulation of transmission of nerve impulse (GO:0051970)|neuromuscular process controlling posture (GO:0050884)|neuropeptide signaling pathway (GO:0007218)|positive regulation of acrosome reaction (GO:2000344)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of membrane potential (GO:0042391)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|righting reflex (GO:0060013)|startle response (GO:0001964)|synaptic transmission, glycinergic (GO:0060012)|transmembrane transport (GO:0055085)|visual perception (GO:0007601)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|external side of plasma membrane (GO:0009897)|inhibitory synapse (GO:0060077)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	extracellular-glycine-gated chloride channel activity (GO:0016934)|glycine binding (GO:0016594)|taurine binding (GO:0030977)|transmitter-gated ion channel activity (GO:0022824)			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	23		all_hematologic(541;0.0341)|Medulloblastoma(196;0.0912)	Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Ethanol(DB00898)|Ginkgo biloba(DB01381)|Glycine(DB00145)|Halothane(DB01159)|Isoflurane(DB00753)|Lindane(DB00431)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	TGGAAGTGGGCCCCCTTCTCG	0.522																																						ENST00000274576.4																			0				breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	23						c.(400-402)Gcc>Acc		glycine receptor, alpha 1	Desflurane(DB01189)|Enflurane(DB00228)|Ethanol(DB00898)|Glycine(DB00145)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)						187	166	173					5																	151239422		2203	4300	6503	SO:0001583	missense	2741				muscle contraction|negative regulation of transmission of nerve impulse|neuropeptide signaling pathway|positive regulation of acrosome reaction|regulation of membrane potential|startle response	cell junction|chloride channel complex|integral to plasma membrane|intracellular membrane-bounded organelle|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|glycine binding|protein binding|receptor activity|taurine binding|transmitter-gated ion channel activity	g.chr5:151239422C>T		CCDS4320.1, CCDS54942.1	5q33.1	2012-02-07	2008-01-24		ENSG00000145888	ENSG00000145888		"Ligand-gated ion channels / Glycine receptors"	4326	protein-coding gene	gene with protein product	"startle disease/hyperekplexia", "stiff person syndrome"	138491	"glycine receptor, alpha 1 (startle disease/hyperekplexia)"	STHE		1355335, 8298642	Standard	NM_000171		Approved		uc003lut.3	P23415	OTTHUMG00000130121	ENST00000455880.2:c.400G>A	5.37:g.151239422C>T	ENSP00000411593:p.Ala134Thr					GLRA1_ENST00000455880.2_Missense_Mutation_p.A134T|GLRA1_ENST00000471351.2_5'UTR|GLRA1_ENST00000545569.1_Missense_Mutation_p.A51T	p.A134T	NM_000171.3|NM_001146040.1	NP_000162.2|NP_001139512.1	P23415	GLRA1_HUMAN	Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		4	692	-		all_hematologic(541;0.0341)|Medulloblastoma(196;0.0912)	134					B2R6T3|Q14C77|Q6DJV9	Missense_Mutation	SNP	ENST00000455880.2	37	c.400G>A	CCDS54942.1	.	.	.	.	.	.	.	.	.	.	C	35	5.571039	0.96553	.	.	ENSG00000145888	ENST00000274576;ENST00000455880;ENST00000545569	T;T;T	0.79653	-1.29;-1.29;-1.29	5.51	5.51	0.81932	Neurotransmitter-gated ion-channel ligand-binding (3);	0.103704	0.64402	D	0.000003	D	0.82765	0.5108	M	0.66378	2.025	0.80722	D	1	P;P;P	0.39551	0.529;0.678;0.473	B;B;B	0.41619	0.361;0.361;0.247	D	0.84453	0.0589	10	0.72032	D	0.01	.	19.7859	0.96437	0.0:1.0:0.0:0.0	.	134;51;134	P23415;Q14C71;P23415-2	GLRA1_HUMAN;.;.	T	134;134;51	ENSP00000274576:A134T;ENSP00000411593:A134T;ENSP00000445913:A51T	ENSP00000274576:A134T	A	-	1	0	GLRA1	151219615	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	7.616000	0.83018	2.746000	0.94184	0.655000	0.94253	GCC		0.522	GLRA1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000373959.1			25	64	0	0	0	1	0	25	64					T	151239422	C	T	151239422	3	4	153	1	0	0	0	0	1	0	0	0	6454	739	26	3	997	3	GLRA1	5	151239422	Missense_Mutation	SNP	C	TCGA-G9-6339-01A-12D-A30X-08	105543500	151239422	29675838	17	7474											
TTC1	7265	broad.mit.edu	37	chr5	159476556	159476556	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccagctatatcagggcaataTtgaggagagcagagttgtat	13	10	12	6	0	1	3	1	1	0	2	1	4	1	3	1	2	2	5	1	2	5	6			TCGA-G9-6339-01A-12D-A30X-08	TCGA-G9-6339-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e297e93-6cfe-43b1-aeb2-1151c6fe2a8a	23a6d650-d249-4674-a652-4669df3e3d64	g.chr5:159476556T>C	ENST00000231238.5	+	6	687	c.577T>C	c.(577-579)Ttg>Ctg	p.L193L	TTC1_ENST00000520274.1_3'UTR|TTC1_ENST00000522793.1_Silent_p.L193L	NM_001282500.1|NM_003314.1	NP_001269429.1|NP_003305.1	Q99614	TTC1_HUMAN	tetratricopeptide repeat domain 1	193					protein folding (GO:0006457)	peroxisomal membrane (GO:0005778)	unfolded protein binding (GO:0051082)			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(2)|lung(1)|prostate(1)|skin(1)	12	Renal(175;0.00196)	all_hematologic(541;0.00014)|Breast(839;0.0101)|all_neural(177;0.0281)|Medulloblastoma(196;0.0425)|Lung NSC(249;0.119)|all_lung(500;0.163)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	Epithelial(171;8.37e-05)|all cancers(165;0.000694)|OV - Ovarian serous cystadenocarcinoma(192;0.0402)		CAGGGCAATATTGAGGAGAGC	0.348																																						ENST00000231238.5																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(2)|lung(1)|prostate(1)|skin(1)	12						c.(577-579)Ttg>Ctg		tetratricopeptide repeat domain 1							68	70	69					5																	159476556		2203	4300	6503	SO:0001819	synonymous_variant	7265				protein folding		unfolded protein binding	g.chr5:159476556T>C	U46570	CCDS4348.1	5q32-q33.2	2013-01-10			ENSG00000113312	ENSG00000113312		"Tetratricopeptide (TTC) repeat domain containing"	12391	protein-coding gene	gene with protein product		601963				8836031	Standard	NM_003314		Approved	TPR1	uc003lxu.3	Q99614	OTTHUMG00000130326	ENST00000231238.5:c.577T>C	5.37:g.159476556T>C						TTC1_ENST00000522793.1_Silent_p.L193L|TTC1_ENST00000520274.1_3'UTR	p.L193L	NM_003314.1	NP_003305.1	Q99614	TTC1_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	Epithelial(171;8.37e-05)|all cancers(165;0.000694)|OV - Ovarian serous cystadenocarcinoma(192;0.0402)	6	687	+	Renal(175;0.00196)	all_hematologic(541;0.00014)|Breast(839;0.0101)|all_neural(177;0.0281)|Medulloblastoma(196;0.0425)|Lung NSC(249;0.119)|all_lung(500;0.163)	193					B2RCT2|D3DQJ8|Q9BVT3	Silent	SNP	ENST00000231238.5	37	c.577T>C	CCDS4348.1																																																																																				0.348	TTC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252675.3	NM_003314		12	30	0	0	0	1	0	12	30					C	159476556	T	C	159476556	2	2	153	1	0	0	0	0	0	0	0	1	16675	1490	52	4		4	TTC1	5	159476556	Silent	SNP	T	TCGA-G9-6339-01A-12D-A30X-08	8237134	159476556	21438704	18	7475											
ODZ2	57451	broad.mit.edu	37	chr5	167655091	167655091	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	ttgagtggcgcctaagaaagGaacagattaaaggcaaagtc	16	7	12	6	1	0	3	0	1	0	2	1	4	0	4	1	3	1	1	1	3	6	3			TCGA-G9-6339-01A-12D-A30X-08	TCGA-G9-6339-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e297e93-6cfe-43b1-aeb2-1151c6fe2a8a	23a6d650-d249-4674-a652-4669df3e3d64	g.chr5:167655091G>C	ENST00000518659.1	+	25	5515	c.5476G>C	c.(5476-5478)Gaa>Caa	p.E1826Q	TENM2_ENST00000519204.1_Missense_Mutation_p.E1705Q|TENM2_ENST00000545108.1_Missense_Mutation_p.E1825Q|TENM2_ENST00000520394.1_Missense_Mutation_p.E1587Q|CTB-178M22.2_ENST00000519795.1_RNA|TENM2_ENST00000403607.2_Missense_Mutation_p.E1650Q	NM_001122679.1	NP_001116151.1	Q9NT68	TEN2_HUMAN	teneurin transmembrane protein 2	1826					axon guidance (GO:0007411)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|heterophilic cell-cell adhesion (GO:0007157)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of filopodium assembly (GO:0051491)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cell-cell junction (GO:0005911)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|endoplasmic reticulum (GO:0005783)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)										CCTAAGAAAGGAACAGATTAA	0.517																																						ENST00000519204.1																			0											c.(5113-5115)Gaa>Caa		teneurin transmembrane protein 2							49	49	49					5																	167655091		1997	4178	6175	SO:0001583	missense	57451							g.chr5:167655091G>C	AB032953		5q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000145934	ENSG00000145934			29943	protein-coding gene	gene with protein product		610119	"odz, odd Oz/ten-m homolog 2 (Drosophila)"	ODZ2		10625539	Standard	NM_001122679		Approved	KIAA1127, Ten-M2	uc010jjd.3	Q9NT68	OTTHUMG00000162928	ENST00000518659.1:c.5476G>C	5.37:g.167655091G>C	ENSP00000429430:p.Glu1826Gln					TENM2_ENST00000518659.1_Missense_Mutation_p.E1826Q|TENM2_ENST00000520394.1_Missense_Mutation_p.E1587Q|TENM2_ENST00000403607.2_Missense_Mutation_p.E1650Q|TENM2_ENST00000545108.1_Missense_Mutation_p.E1825Q	p.E1705Q							24	5231	+								Q9ULU2	Missense_Mutation	SNP	ENST00000518659.1	37	c.5113G>C		.	.	.	.	.	.	.	.	.	.	G	25.4	4.638968	0.87760	.	.	ENSG00000145934	ENST00000518659;ENST00000545108;ENST00000519204;ENST00000520394;ENST00000403607	D;D;D;D;D	0.90385	-2.18;-2.17;-2.29;-2.62;-2.66	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	D	0.95611	0.8573	M	0.81942	2.565	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.996	D;D;D	0.91635	0.999;0.999;0.986	D	0.94784	0.7956	10	0.45353	T	0.12	.	19.7398	0.96223	0.0:0.0:1.0:0.0	.	1825;1826;1587	F5H2D1;Q9NT68;F8VNQ3	.;TEN2_HUMAN;.	Q	1826;1825;1705;1587;1650	ENSP00000429430:E1826Q;ENSP00000438635:E1825Q;ENSP00000428964:E1705Q;ENSP00000427874:E1587Q;ENSP00000384905:E1650Q	ENSP00000384905:E1650Q	E	+	1	0	ODZ2	167587669	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	9.830000	0.99415	2.665000	0.90641	0.561000	0.74099	GAA		0.517	TENM2-001	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000376096.1	NM_001122679		3	21	0	0	0	1	0	3	21					C	167655091	G	C	167655091	3	2	153	1	0	0	0	0	1	0	0	0	10835	1175	41	5	5547	5	ODZ2	5	167655091	Missense_Mutation	SNP	G	TCGA-G9-6339-01A-12D-A30X-08	8178535	167655091	13260169	19	7476											
TJAP1	93643	broad.mit.edu	37	chr6	43473228	43473228	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agcgcacagcctttggacgcGatgccctccctgagctgcag	7	7	12	15	3	0	1	0	1	0	0	1	3	1	2	3	1	5	3	3	1	0	1	rs142853495		TCGA-G9-6339-01A-12D-A30X-08	TCGA-G9-6339-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e297e93-6cfe-43b1-aeb2-1151c6fe2a8a	23a6d650-d249-4674-a652-4669df3e3d64	g.chr6:43473228G>A	ENST00000372445.5	+	11	1685	c.1309G>A	c.(1309-1311)Gat>Aat	p.D437N	TJAP1_ENST00000372452.1_Missense_Mutation_p.D427N|TJAP1_ENST00000259751.1_Missense_Mutation_p.D427N|TJAP1_ENST00000372449.1_Missense_Mutation_p.D437N|TJAP1_ENST00000438588.2_Missense_Mutation_p.D437N|TJAP1_ENST00000372444.2_Missense_Mutation_p.D427N|TJAP1_ENST00000483640.1_3'UTR|TJAP1_ENST00000436109.2_Missense_Mutation_p.D427N	NM_001146016.1	NP_001139488.1	Q5JTD0	TJAP1_HUMAN	tight junction associated protein 1 (peripheral)	437					Golgi organization (GO:0007030)	endosome (GO:0005768)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)|trans-Golgi network (GO:0005802)				cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|urinary_tract(2)	21	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0122)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)			CTTTGGACGCGATGCCCTCCC	0.622																																						ENST00000372444.2																			0				cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|urinary_tract(2)	21						c.(1279-1281)Gat>Aat		tight junction associated protein 1 (peripheral)		G	ASN/ASP,ASN/ASP,ASN/ASP,ASN/ASP,ASN/ASP,ASN/ASP	1,4405	2.1+/-5.4	0,1,2202	69	67	68		1309,1309,1279,1279,1279,1279	4.7	0.3	6	dbSNP_134	68	0,8600		0,0,4300	no	missense,missense,missense,missense,missense,missense	TJAP1	NM_001146016.1,NM_001146017.1,NM_001146018.1,NM_001146019.1,NM_001146020.1,NM_080604.2	23,23,23,23,23,23	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	437/558,437/558,427/548,427/548,427/548,427/548	43473228	1,13005	2203	4300	6503	SO:0001583	missense	93643					Golgi apparatus|tight junction	protein binding	g.chr6:43473228G>A	AK024269	CCDS4898.1, CCDS55004.1	6p21.1	2008-02-05	2005-07-05	2005-07-05	ENSG00000137221	ENSG00000137221			17949	protein-coding gene	gene with protein product		612658	"tight junction protein 4 (peripheral)"	TJP4		11602598	Standard	NM_001146016		Approved	PILT	uc011dvh.1	Q5JTD0	OTTHUMG00000014736	ENST00000372445.5:c.1309G>A	6.37:g.43473228G>A	ENSP00000361522:p.Asp437Asn					TJAP1_ENST00000483640.1_3'UTR|TJAP1_ENST00000372449.1_Missense_Mutation_p.D437N|TJAP1_ENST00000438588.2_Missense_Mutation_p.D437N|TJAP1_ENST00000436109.2_Missense_Mutation_p.D427N|TJAP1_ENST00000372452.1_Missense_Mutation_p.D427N|TJAP1_ENST00000259751.1_Missense_Mutation_p.D427N|TJAP1_ENST00000372445.5_Missense_Mutation_p.D437N	p.D427N	NM_001146018.1	NP_001139490.1	Q5JTD0	TJAP1_HUMAN	Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0122)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)		11	1712	+	all_lung(25;0.00536)		437					Q05BH9|Q5JTD1|Q5JWW1|Q68DB2|Q6P2P3|Q9H7V7	Missense_Mutation	SNP	ENST00000372445.5	37	c.1279G>A	CCDS55004.1	.	.	.	.	.	.	.	.	.	.	G	15.70	2.910068	0.52439	2.27E-4	0.0	ENSG00000137221	ENST00000372444;ENST00000372445;ENST00000436109;ENST00000259751;ENST00000372454;ENST00000372452;ENST00000372449;ENST00000438588	.	.	.	5.56	4.69	0.59074	.	0.216848	0.48767	D	0.000179	T	0.47040	0.1424	L	0.60455	1.87	0.43226	D	0.995119	D;D	0.57899	0.981;0.981	P;P	0.44696	0.458;0.458	T	0.54833	-0.8234	9	0.56958	D	0.05	-40.1993	13.8357	0.63408	0.0732:0.0:0.9268:0.0	.	437;427	Q5JTD0;Q5JTD0-2	TJAP1_HUMAN;.	N	427;437;427;427;427;427;437;437	.	ENSP00000259751:D427N	D	+	1	0	TJAP1	43581206	1.000000	0.71417	0.300000	0.25030	0.155000	0.21991	5.434000	0.66526	2.601000	0.87937	0.655000	0.94253	GAT		0.622	TJAP1-202	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000040629.1	NM_080604		18	58	0	0	0	1	0	18	58					A	43473228	G	A	43473228	3	1	153	1	0	0	0	0	1	0	0	0	15925	1058	37	2	1339	2	TJAP1	6	43473228	Missense_Mutation	SNP	G	TCGA-G9-6339-01A-12D-A30X-08		43473228	127641839	20	7477											
BAI3	577	broad.mit.edu	37	chr6	70064192	70064192	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	caatgcagattcttcgagttCgtttcctaatgggcatgctc	8	14	9	10	2	1	1	0	0	1	1	5	2	2	1	1	1	2	5	1	1	2	5	rs142863825		TCGA-G9-6339-01A-12D-A30X-08	TCGA-G9-6339-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e297e93-6cfe-43b1-aeb2-1151c6fe2a8a	23a6d650-d249-4674-a652-4669df3e3d64	g.chr6:70064192C>T	ENST00000370598.1	+	27	4348	c.3527C>T	c.(3526-3528)tCg>tTg	p.S1176L	BAI3_ENST00000546190.1_Missense_Mutation_p.S140L|BAI3_ENST00000238918.8_Missense_Mutation_p.S382L	NM_001704.2	NP_001695	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	1176	Poly-Ser.				G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				TCTTCGAGTTCGTTTCCTAAT	0.393																																						ENST00000370598.1																			0				NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210						c.(3526-3528)tCg>tTg		brain-specific angiogenesis inhibitor 3		C	LEU/SER	0,4406		0,0,2203	182	166	172		3527	5.1	1	6	dbSNP_134	172	1,8599	1.2+/-3.3	0,1,4299	yes	missense	BAI3	NM_001704.2	145	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	1176/1523	70064192	1,13005	2203	4300	6503	SO:0001583	missense	577				negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr6:70064192C>T	AB005299	CCDS4968.1	6q12	2014-08-08			ENSG00000135298	ENSG00000135298		"-", "GPCR / Class B : Orphans"	945	protein-coding gene	gene with protein product		602684				9533023	Standard	NM_001704		Approved	KIAA0550	uc003pev.4	O60242	OTTHUMG00000014982	ENST00000370598.1:c.3527C>T	6.37:g.70064192C>T	ENSP00000359630:p.Ser1176Leu					BAI3_ENST00000546190.1_Missense_Mutation_p.S140L|BAI3_ENST00000238918.8_Missense_Mutation_p.S382L	p.S1176L	NM_001704.2	NP_001695.1	O60242	BAI3_HUMAN			27	4348	+		all_lung(197;0.212)	1176			Poly-Ser.		B7Z1K0|O60297|Q2NKN6|Q5VY37|Q9BX54	Missense_Mutation	SNP	ENST00000370598.1	37	c.3527C>T	CCDS4968.1	.	.	.	.	.	.	.	.	.	.	C	15.50	2.852500	0.51270	0.0	1.16E-4	ENSG00000135298	ENST00000370598;ENST00000238918;ENST00000546190	T;T;T	0.53423	1.1;1.1;0.62	5.08	5.08	0.68730	.	0.165899	0.56097	D	0.000040	T	0.32882	0.0844	L	0.55213	1.73	0.48901	D	0.999722	P;P	0.45428	0.672;0.858	B;B	0.35114	0.057;0.196	T	0.47275	-0.9130	10	0.87932	D	0	.	18.8309	0.92139	0.0:1.0:0.0:0.0	.	382;1176	B7Z356;O60242	.;BAI3_HUMAN	L	1176;382;140	ENSP00000359630:S1176L;ENSP00000238918:S382L;ENSP00000441821:S140L	ENSP00000238918:S382L	S	+	2	0	BAI3	70120913	1.000000	0.71417	1.000000	0.80357	0.224000	0.24922	7.431000	0.80335	2.536000	0.85505	0.591000	0.81541	TCG		0.393	BAI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041120.1			23	77	0	0	0	1	0	23	77					T	70064192	C	T	70064192	3	4	153	1	0	0	0	0	1	0	0	0	1300	893	31	2	3625	2	BAI3	6	70064192	Missense_Mutation	SNP	C	TCGA-G9-6339-01A-12D-A30X-08	26590964	70064192	101050875	21	7478											
SLC4A2	6522	broad.mit.edu	37	chr7	150761318	150761318	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagagcttgggccctgggacGcctgggttccccgagcagga	6	6	17	12	2	0	1	0	0	0	1	1	5	1	3	4	4	2	3	4	4	0	2	rs142515597	byFrequency	TCGA-G9-6339-01A-12D-A30X-08	TCGA-G9-6339-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e297e93-6cfe-43b1-aeb2-1151c6fe2a8a	23a6d650-d249-4674-a652-4669df3e3d64	g.chr7:150761318G>A	ENST00000485713.1	+	3	1121	c.81G>A	c.(79-81)acG>acA	p.T27T	SLC4A2_ENST00000461735.1_Silent_p.T13T|SLC4A2_ENST00000413384.2_Silent_p.T27T|SLC4A2_ENST00000310317.5_Intron|SLC4A2_ENST00000392826.2_Silent_p.T18T	NM_001199692.1	NP_001186621.1	P04920	B3A2_HUMAN	solute carrier family 4 (anion exchanger), member 2	27	Pro-rich.				anion transport (GO:0006820)|bicarbonate transport (GO:0015701)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	anion transmembrane transporter activity (GO:0008509)|chloride transmembrane transporter activity (GO:0015108)|inorganic anion exchanger activity (GO:0005452)			NS(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(14)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	33			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GCCCTGGGACGCCTGGGTTCC	0.622													G|||	6	0.00119808	0.0038	0	5008	,	,		11998	0		0	False		,,,				2504	0.001					ENST00000485713.1																			0				NS(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(14)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	33						c.(79-81)acG>acA		solute carrier family 4 (anion exchanger), member 2		G	,,,	6,4400	12.9+/-30.5	0,6,2197	60	55	57		81,54,39,81	-8.6	0	7	dbSNP_134	57	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	SLC4A2	NM_001199692.1,NM_001199693.1,NM_001199694.1,NM_003040.3	,,,	0,6,6497	AA,AG,GG		0.0,0.1362,0.0461	,,,	27/1242,18/1233,13/1228,27/1242	150761318	6,13000	2203	4300	6503	SO:0001819	synonymous_variant	6522				bicarbonate transport	integral to membrane|membrane fraction	inorganic anion exchanger activity	g.chr7:150761318G>A		CCDS5917.1, CCDS56520.1, CCDS56521.1	7q36.1	2013-07-19	2013-07-19		ENSG00000164889	ENSG00000164889		"Solute carriers"	11028	protein-coding gene	gene with protein product	"anion exchanger 2 type a", "anion exchanger 2 type b1", "anion exchanger 2 type b2"	109280	"erythrocyte membrane protein band 3-like 1", "solute carrier family 4, anion exchanger, member 2 (erythrocyte membrane protein band 3-like 1)"	EPB3L1, AE2		8434259	Standard	NM_003040		Approved	HKB3, BND3L, NBND3	uc003wit.4	P04920	OTTHUMG00000158443	ENST00000485713.1:c.81G>A	7.37:g.150761318G>A						SLC4A2_ENST00000413384.2_Silent_p.T27T|SLC4A2_ENST00000392826.2_Silent_p.T18T|SLC4A2_ENST00000310317.5_Intron|SLC4A2_ENST00000461735.1_Silent_p.T13T	p.T27T	NM_001199692.1	NP_001186621.1	P04920	B3A2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	3	1121	+			27			Pro-rich.		B2R6T0|B4DIT0|D3DX05|F8W682|Q45EY5|Q969L3	Silent	SNP	ENST00000485713.1	37	c.81G>A	CCDS5917.1																																																																																				0.622	SLC4A2-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000351039.1	NM_003040		20	58	0	0	0	1	0	20	58					A	150761318	G	A	150761318	2	1	153	1	0	0	0	0	0	0	0	1	14654	1074	38	1		1	SLC4A2	7	150761318	Silent	SNP	G	TCGA-G9-6339-01A-12D-A30X-08		150761318	8377345	22	7479											
ZFAT	57623	broad.mit.edu	37	chr8	135612780	135612780	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcaagatgttactgtgttTctgaattacgtggcgtttaa	10	15	10	6	2	1	2	0	1	1	1	1	2	1	2	0	1	3	4	0	1	5	5			TCGA-G9-6339-01A-12D-A30X-08	TCGA-G9-6339-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e297e93-6cfe-43b1-aeb2-1151c6fe2a8a	23a6d650-d249-4674-a652-4669df3e3d64	g.chr8:135612780T>G	ENST00000377838.3	-	7	2548	c.2374A>C	c.(2374-2376)Aaa>Caa	p.K792Q	ZFAT-AS1_ENST00000505776.1_RNA|ZFAT_ENST00000523399.1_Missense_Mutation_p.K730Q|ZFAT_ENST00000429442.2_Missense_Mutation_p.K780Q|ZFAT_ENST00000520727.1_Missense_Mutation_p.K780Q|ZFAT_ENST00000520356.1_Missense_Mutation_p.K780Q|ZFAT_ENST00000520214.1_Missense_Mutation_p.K780Q	NM_001174157.1|NM_020863.3	NP_001167628.1|NP_065914.2	Q9P243	ZFAT_HUMAN	zinc finger and AT hook domain containing	792					hematopoietic progenitor cell differentiation (GO:0002244)|spongiotrophoblast layer development (GO:0060712)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(9)|large_intestine(8)|lung(16)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0432)			TTACTGTGTTTCTGAATTACG	0.438																																						ENST00000520727.1																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(9)|large_intestine(8)|lung(16)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	54						c.(2338-2340)Aaa>Caa		zinc finger and AT hook domain containing							165	163	163					8																	135612780		1973	4150	6123	SO:0001583	missense	57623				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	DNA binding|zinc ion binding	g.chr8:135612780T>G	BC025423	CCDS43768.1, CCDS47924.1, CCDS43768.2, CCDS55275.1, CCDS55276.1	8q24.23	2008-06-05	2008-01-25	2008-01-25	ENSG00000066827	ENSG00000066827		"Zinc fingers, C2H2-type"	19899	protein-coding gene	gene with protein product		610931	"zinc finger protein 406"	ZNF406, ZFAT1		10819331, 18329245	Standard	NM_020863		Approved	KIAA1485	uc003yup.3	Q9P243	OTTHUMG00000164321	ENST00000377838.3:c.2374A>C	8.37:g.135612780T>G	ENSP00000367069:p.Lys792Gln					ZFAT_ENST00000377838.3_Missense_Mutation_p.K792Q|ZFAT-AS1_ENST00000505776.1_RNA|ZFAT_ENST00000520214.1_Missense_Mutation_p.K780Q|ZFAT_ENST00000520356.1_Missense_Mutation_p.K780Q|ZFAT_ENST00000429442.2_Missense_Mutation_p.K780Q|ZFAT_ENST00000523399.1_Missense_Mutation_p.K730Q	p.K780Q	NM_001029939.3	NP_001025110.2	Q9P243	ZFAT_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0432)		8	2637	-	all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155)		792					B7ZL15|E9PER3|Q3MIM5|Q6PJ01|Q75PJ6|Q75PJ7|Q75PJ9|Q86X64	Missense_Mutation	SNP	ENST00000377838.3	37	c.2338A>C	CCDS47924.1	.	.	.	.	.	.	.	.	.	.	T	23.8	4.454245	0.84209	.	.	ENSG00000066827	ENST00000520356;ENST00000520727;ENST00000429442;ENST00000377838;ENST00000520214;ENST00000318135;ENST00000523399;ENST00000398946	T;T;T;T;T;T	0.14893	2.47;2.47;2.47;2.47;2.47;2.47	5.42	5.42	0.78866	Zinc finger, C2H2-like (1);	0.000000	0.85682	D	0.000000	T	0.32526	0.0832	L	0.37507	1.11	0.53005	D	0.99996	D;D;D;D	0.89917	1.0;0.999;0.999;0.994	D;D;D;D	0.77557	0.986;0.969;0.99;0.918	T	0.03750	-1.1007	10	0.72032	D	0.01	-19.4701	14.9503	0.71067	0.0:0.0:0.0:1.0	.	730;780;780;792	E9PER3;E9PBN4;Q9P243-3;Q9P243	.;.;.;ZFAT_HUMAN	Q	780;780;780;792;780;679;730;780	ENSP00000427879:K780Q;ENSP00000427831:K780Q;ENSP00000394501:K780Q;ENSP00000367069:K792Q;ENSP00000428483:K780Q;ENSP00000429091:K730Q	ENSP00000326997:K679Q	K	-	1	0	ZFAT	135681962	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.997000	0.88414	2.189000	0.69895	0.533000	0.62120	AAA		0.438	ZFAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378272.1	NM_001029939		31	109	0	0	0	1	0	31	109					G	135612780	T	G	135612780	3	3	153	1	0	0	0	0	1	0	0	0	17629	1792	62	5	1397	5	ZFAT	8	135612780	Missense_Mutation	SNP	T	TCGA-G9-6339-01A-12D-A30X-08		135612780	10751242	23	7480											
C9orf3	84909	broad.mit.edu	37	chr9	97843033	97843033	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agttcacgaaagcctacaaaAgtgtggagaggttccttcag	13	9	11	8	1	2	1	2	0	0	1	3	3	3	1	2	2	2	2	2	2	4	4			TCGA-G9-6339-01A-12D-A30X-08	TCGA-G9-6339-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e297e93-6cfe-43b1-aeb2-1151c6fe2a8a	23a6d650-d249-4674-a652-4669df3e3d64	g.chr9:97843033A>G	ENST00000375315.2	+	14	2290	c.2290A>G	c.(2290-2292)Agt>Ggt	p.S764G	C9orf3_ENST00000433691.2_Missense_Mutation_p.S105G|C9orf3_ENST00000425634.2_Missense_Mutation_p.S126G|C9orf3_ENST00000297979.5_Missense_Mutation_p.S665G	NM_001193329.1	NP_001180258.1	Q8N6M6	AMPO_HUMAN	chromosome 9 open reading frame 3	764					leukotriene biosynthetic process (GO:0019370)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(323;0.000275)		AGCCTACAAAAGTGTGGAGAG	0.512																																						ENST00000375315.2																			0				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						c.(2290-2292)Agt>Ggt		chromosome 9 open reading frame 3							167	146	153					9																	97843033		2203	4300	6503	SO:0001583	missense	84909				leukotriene biosynthetic process|proteolysis	cytoplasm	aminopeptidase activity|metallopeptidase activity|zinc ion binding	g.chr9:97843033A>G	AF043896	CCDS6713.1, CCDS55327.1, CCDS55328.1	9q22	2013-06-27			ENSG00000148120	ENSG00000148120			1361	protein-coding gene	gene with protein product	aminopeptidase O					15687497	Standard	NM_001193329		Approved	C90RF3, FLJ14675, APO, AOPEP, AP-O	uc004ava.3	Q8N6M6	OTTHUMG00000020276	ENST00000375315.2:c.2290A>G	9.37:g.97843033A>G	ENSP00000364464:p.Ser764Gly					C9orf3_ENST00000297979.5_Missense_Mutation_p.S665G|C9orf3_ENST00000433691.2_Missense_Mutation_p.S105G|C9orf3_ENST00000425634.2_Missense_Mutation_p.S126G	p.S764G	NM_001193329.1	NP_001180258.1	Q8N6M6	AMPO_HUMAN		OV - Ovarian serous cystadenocarcinoma(323;0.000275)	14	2290	+			764					Q5T9B1|Q5T9B3|Q5T9B4|Q8WUL6|Q96M23|Q96SS1	Missense_Mutation	SNP	ENST00000375315.2	37	c.2290A>G	CCDS55328.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	12.88|12.88	2.069963|2.069963	0.36566|0.36566	.|.	.|.	ENSG00000148120|ENSG00000148120	ENST00000445181|ENST00000297979;ENST00000375315;ENST00000424143;ENST00000428313;ENST00000425634;ENST00000433691;ENST00000375314	T|T;T;T;T;T;T	0.43294|0.43294	0.95|0.95;0.95;0.95;0.95;0.95;0.95	5.57|5.57	-2.53|-2.53	0.06326|0.06326	.|Peptidase M1, leukotriene A4 hydrolase, aminopeptidase C-terminal (1);Armadillo-type fold (1);	.|0.565185	.|0.19234	.|N	.|0.119332	T|T	0.18551|0.18551	0.0445|0.0445	N|N	0.08118|0.08118	0|0	0.09310|0.09310	N|N	1|1	.|B;B;B;B;B	.|0.27932	.|0.194;0.194;0.064;0.022;0.113	.|B;B;B;B;B	.|0.29663	.|0.073;0.105;0.034;0.009;0.033	T|T	0.22836|0.22836	-1.0205|-1.0205	7|10	0.15066|0.23302	T|T	0.55|0.38	7.9333|7.9333	9.2386|9.2386	0.37481|0.37481	0.2207:0.3203:0.459:0.0|0.2207:0.3203:0.459:0.0	.|.	.|105;126;764;665;665	.|B4DU39;B4DQU3;Q8N6M6;Q8N6M6-4;Q8N6M6-2	.|.;.;AMPO_HUMAN;.;.	R|G	128|665;764;488;546;126;105;128	ENSP00000413927:K128R|ENSP00000297979:S665G;ENSP00000364464:S764G;ENSP00000402171:S488G;ENSP00000401854:S546G;ENSP00000411815:S126G;ENSP00000399365:S105G	ENSP00000413927:K128R|ENSP00000297979:S665G	K|S	+|+	2|1	0|0	C9orf3|C9orf3	96882854|96882854	0.785000|0.785000	0.28726|0.28726	0.000000|0.000000	0.03702|0.03702	0.018000|0.018000	0.09664|0.09664	1.718000|1.718000	0.38001|0.38001	-0.527000|-0.527000	0.06374|0.06374	0.454000|0.454000	0.30748|0.30748	AAG|AGT		0.512	C9orf3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_032823		24	65	0	0	0	1	0	24	65					G	97843033	A	G	97843033	3	3	153	1	0	0	0	0	1	0	0	0	2477	72	3	4	2039	4	C9orf3	9	97843033	Missense_Mutation	SNP	A	TCGA-G9-6339-01A-12D-A30X-08		97843033	43370398	24	7481											
KIF12	113220	broad.mit.edu	37	chr9	116858369	116858369	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggttgatgctgttagcctcaAgcatcagctccccacgggat	8	10	11	12	1	2	1	2	1	0	0	3	2	3	2	3	2	4	5	3	2	2	2			TCGA-G9-6339-01A-12D-A30X-08	TCGA-G9-6339-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e297e93-6cfe-43b1-aeb2-1151c6fe2a8a	23a6d650-d249-4674-a652-4669df3e3d64	g.chr9:116858369A>G	ENST00000374118.3	-	6	680	c.443T>C	c.(442-444)cTt>cCt	p.L148P	KIF12_ENST00000473174.1_Intron	NM_138424.1	NP_612433.1	Q96FN5	KIF12_HUMAN	kinesin family member 12	281	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	17						GTTAGCCTCAAGCATCAGCTC	0.627																																						ENST00000374118.3																			0				breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	17						c.(442-444)cTt>cCt		kinesin family member 12							56	62	60					9																	116858369		2203	4300	6503	SO:0001583	missense	113220				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr9:116858369A>G	BC010626	CCDS6801.1	9q33.1	2008-02-05			ENSG00000136883	ENSG00000136883		"Kinesins"	21495	protein-coding gene	gene with protein product		611278					Standard	NM_138424		Approved		uc004bif.3	Q96FN5	OTTHUMG00000020533	ENST00000374118.3:c.443T>C	9.37:g.116858369A>G	ENSP00000363232:p.Leu148Pro					KIF12_ENST00000473174.1_Intron	p.L148P	NM_138424.1	NP_612433.1	Q96FN5	KIF12_HUMAN			6	680	-			281			Kinesin-motor.		Q5TBE0	Missense_Mutation	SNP	ENST00000374118.3	37	c.443T>C	CCDS6801.1	.	.	.	.	.	.	.	.	.	.	A	14.87	2.664394	0.47572	.	.	ENSG00000136883	ENST00000374118;ENST00000259410	T	0.75050	-0.9	5.69	3.27	0.37495	Kinesin, motor domain (4);	0.270973	0.26851	N	0.022170	T	0.75946	0.3919	L	0.46819	1.47	0.51012	D	0.999903	D	0.58970	0.984	P	0.61132	0.884	T	0.73401	-0.3994	10	0.66056	D	0.02	.	5.2892	0.15717	0.7608:0.0:0.0841:0.1551	.	281	Q96FN5	KIF12_HUMAN	P	148;281	ENSP00000363232:L148P	ENSP00000259410:L281P	L	-	2	0	KIF12	115898190	0.189000	0.23263	0.444000	0.26895	0.931000	0.56810	1.042000	0.30303	0.396000	0.25283	0.528000	0.53228	CTT		0.627	KIF12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053751.1	NM_138424		6	116	0	0	0	1	0	6	116					G	116858369	A	G	116858369	3	3	153	1	0	0	0	0	1	0	0	0	8273	72	3	4	1142	4	KIF12	9	116858369	Missense_Mutation	SNP	A	TCGA-G9-6339-01A-12D-A30X-08	19015336	116858369	24355062	25	7482											
C9orf119	375757	broad.mit.edu	37	chr9	131038453	131038453	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcgtggccagagggacctgtGgcgtcacaacaaaagctgcg	10	5	15	11	3	1	1	1	0	0	1	1	2	1	2	2	3	3	1	2	3	3	0			TCGA-G9-6339-01A-12D-A30X-08	TCGA-G9-6339-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e297e93-6cfe-43b1-aeb2-1151c6fe2a8a	23a6d650-d249-4674-a652-4669df3e3d64	g.chr9:131038453G>A	ENST00000320188.5	+	1	29	c.29G>A	c.(28-30)tGg>tAg	p.W10*	GOLGA2_ENST00000490628.1_5'Flank|SWI5_ENST00000495313.1_Intron|SWI5_ENST00000418976.1_5'Flank|SWI5_ENST00000419867.2_5'Flank|GOLGA2_ENST00000421699.2_5'Flank|GOLGA2_ENST00000609374.1_5'Flank|SWI5_ENST00000608796.1_5'Flank	NM_001040011.1	NP_001035100.1	Q1ZZU3	SWI5_HUMAN	SWI5 recombination repair homolog (yeast)	10					cellular response to ionizing radiation (GO:0071479)|double-strand break repair via homologous recombination (GO:0000724)	nucleus (GO:0005634)|Swi5-Sfr1 complex (GO:0032798)		p.W10L(1)									AGGGACCTGTGGCGTCACAAC	0.642																																						ENST00000320188.4																			1	Substitution - Missense(1)	p.W10L(1)	large_intestine(1)								c.(28-30)tGg>tAg		SWI5 recombination repair homolog (yeast)							40	48	46					9																	131038453		2031	4133	6164	SO:0001587	stop_gained	375757				double-strand break repair via homologous recombination	Swi5-Sfr1 complex	protein binding	g.chr9:131038453G>A	BC029911	CCDS43883.1	9q34.13	2011-07-29	2011-07-29	2011-07-29	ENSG00000175854	ENSG00000175854			31412	protein-coding gene	gene with protein product			"chromosome 9 open reading frame 119"	C9orf119		21252223, 20976249	Standard	NM_001040011		Approved	bA395P17.9	uc004bup.3	Q1ZZU3	OTTHUMG00000020729	ENST00000320188.5:c.29G>A	9.37:g.131038453G>A	ENSP00000316609:p.Trp10*						p.W10*	NM_001040011.1	NP_001035100.1	Q1ZZU3	SWI5_HUMAN			1	29	+			10					Q5SYX7|Q5SYX8|Q8N2W6	Nonsense_Mutation	SNP	ENST00000320188.5	37	c.29G>A	CCDS43883.1	.	.	.	.	.	.	.	.	.	.	G	16.39	3.110626	0.56398	.	.	ENSG00000175854	ENST00000320188	.	.	.	4.3	2.34	0.29019	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	6.9625	0.24605	0.0994:0.1749:0.7257:0.0	.	.	.	.	X	10	.	ENSP00000316609:W10X	W	+	2	0	SWI5	130078274	0.000000	0.05858	0.002000	0.10522	0.002000	0.02628	-0.018000	0.12568	1.011000	0.39340	0.557000	0.71058	TGG		0.642	SWI5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001040011		25	100	0	0	0	1	0	25	100					A	131038453	G	A	131038453	4	1	153	1	0	0	0	0	0	1	0	0	2452	1357	47	3	31	3	C9orf119	9	131038453	Nonsense_Mutation	SNP	G	TCGA-G9-6339-01A-12D-A30X-08	14180084	131038453	10174978	26	7483											
COBRA1	25920	broad.mit.edu	37	chr9	140161398	140161398	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggcctcccctcctcgtaggaGgtagagctcatcaccaggtt	7	9	11	14	1	2	1	2	0	0	1	5	2	4	2	5	4	1	4	5	4	2	3			TCGA-G9-6339-01A-12D-A30X-08	TCGA-G9-6339-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e297e93-6cfe-43b1-aeb2-1151c6fe2a8a	23a6d650-d249-4674-a652-4669df3e3d64	g.chr9:140161398G>C	ENST00000343053.4	+	9	1435	c.1098G>C	c.(1096-1098)gaG>gaC	p.E366D		NM_015456.3	NP_056271.2	Q8WX92	NELFB_HUMAN	negative elongation factor complex member B	366					gene expression (GO:0010467)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of viral transcription (GO:0050434)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	cytoplasm (GO:0005737)|NELF complex (GO:0032021)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)											CCTCGTAGGAGGTAGAGCTCA	0.642																																						ENST00000343053.4																			0											c.(1096-1098)gaG>gaC		negative elongation factor complex member B							69	48	55					9																	140161398		2203	4300	6503	SO:0001583	missense	25920							g.chr9:140161398G>C	AF464935	CCDS7040.1	9q34	2013-01-31	2013-01-31	2013-01-31	ENSG00000188986	ENSG00000188986			24324	protein-coding gene	gene with protein product		611180	"cofactor of BRCA1"	COBRA1		11230166, 10574461, 17910036, 17659869	Standard	NM_015456		Approved	KIAA1182, NELF-B	uc004cmm.4	Q8WX92	OTTHUMG00000131778	ENST00000343053.4:c.1098G>C	9.37:g.140161398G>C	ENSP00000339495:p.Glu366Asp						p.E366D	NM_015456.3	NP_056271.2					9	1435	+								A2BFA3|Q96EW5|Q9H9R4|Q9ULN8|Q9Y3W0	Missense_Mutation	SNP	ENST00000343053.4	37	c.1098G>C	CCDS7040.1	.	.	.	.	.	.	.	.	.	.	G	2.256	-0.370408	0.05069	.	.	ENSG00000188986	ENST00000343053	.	.	.	5.32	0.801	0.18679	.	0.205916	0.50627	D	0.000104	T	0.06416	0.0165	N	0.01003	-1.06	0.28000	N	0.935338	B	0.02656	0.0	B	0.06405	0.002	T	0.35076	-0.9803	9	0.02654	T	1	-36.071	3.502	0.07676	0.493:0.0:0.3216:0.1853	.	366	Q8WX92	NELFB_HUMAN	D	366	.	ENSP00000339495:E366D	E	+	3	2	COBRA1	139281219	0.207000	0.23482	0.989000	0.46669	0.805000	0.45488	0.035000	0.13797	0.249000	0.21456	0.478000	0.44815	GAG		0.642	NELFB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254710.1	NM_015456		8	35	0	0	0	1	0	8	35					C	140161398	G	C	140161398	3	2	153	1	0	0	0	0	1	0	0	0	3655	991	35	5	1132	5	COBRA1	9	140161398	Missense_Mutation	SNP	G	TCGA-G9-6339-01A-12D-A30X-08	9122945	140161398	1052033	27	7484											
C10orf140	387640	broad.mit.edu	37	chr10	21805058	21805058	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	taattgtcaggtcagttctcTttacagcattggaaatttca	11	16	7	7	0	4	0	3	0	1	0	5	1	4	1	0	2	2	2	0	2	3	7			TCGA-G9-6339-01A-12D-A30X-08	TCGA-G9-6339-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e297e93-6cfe-43b1-aeb2-1151c6fe2a8a	23a6d650-d249-4674-a652-4669df3e3d64	g.chr10:21805058T>A	ENST00000449193.2	-	4	3946	c.1694A>T	c.(1693-1695)aAg>aTg	p.K565M	SKIDA1_ENST00000444772.3_Missense_Mutation_p.K486M	NM_207371.3	NP_997254.3	Q1XH10	SKDA1_HUMAN	SKI/DACH domain containing 1	484						nucleus (GO:0005634)											GTCAGTTCTCTTTACAGCATT	0.483																																						ENST00000449193.2																			0											c.(1693-1695)aAg>aTg		SKI/DACH domain containing 1							88	89	89					10																	21805058		1923	4137	6060	SO:0001583	missense	387640							g.chr10:21805058T>A	AK131456	CCDS44363.1	10p12.31	2012-06-13	2012-06-13	2012-06-13	ENSG00000180592	ENSG00000180592			32697	protein-coding gene	gene with protein product			"chromosome 10 open reading frame 140"	C10orf140			Standard	NM_207371		Approved	FLJ45187	uc021pnx.1	Q1XH10	OTTHUMG00000017797	ENST00000449193.2:c.1694A>T	10.37:g.21805058T>A	ENSP00000410041:p.Lys565Met					SKIDA1_ENST00000444772.3_Missense_Mutation_p.K486M	p.K565M	NM_207371.3	NP_997254.3					4	3946	-								B1ANA5|Q6ZMX4|Q8N3C3	Missense_Mutation	SNP	ENST00000449193.2	37	c.1694A>T	CCDS44363.1	.	.	.	.	.	.	.	.	.	.	T	15.26	2.781147	0.49891	.	.	ENSG00000180592	ENST00000449193;ENST00000444772	.	.	.	5.88	4.73	0.59995	.	0.408336	0.26859	N	0.022133	T	0.61961	0.2389	L	0.29908	0.895	0.43160	D	0.994949	D	0.76494	0.999	D	0.64042	0.921	T	0.65001	-0.6274	9	0.87932	D	0	-0.4755	11.3886	0.49800	0.0:0.0712:0.0:0.9288	.	565	E9PAX1	.	M	565;486	.	ENSP00000442432:K486M	K	-	2	0	C10orf140	21845064	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	0.903000	0.28475	1.019000	0.39547	0.528000	0.53228	AAG		0.483	SKIDA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286950.2	NM_207371		20	65	0	0	0	1	0	20	65					A	21805058	T	A	21805058	3	1	153	1	0	0	0	0	1	0	0	0	1595	1609	56	5	1036	5	C10orf140	10	21805058	Missense_Mutation	SNP	T	TCGA-G9-6339-01A-12D-A30X-08		21805058	113729689	28	7485											
PCDH15	65217	broad.mit.edu	37	chr10	55591182	55591182	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatcctagactttctcctctCtttttaatgctggtcactgc	6	18	5	12	0	3	1	1	0	2	1	6	1	4	1	2	1	2	1	2	1	3	6			TCGA-G9-6339-01A-12D-A30X-08	TCGA-G9-6339-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e297e93-6cfe-43b1-aeb2-1151c6fe2a8a	23a6d650-d249-4674-a652-4669df3e3d64	g.chr10:55591182C>A	ENST00000320301.6	-	30	4489	c.4095G>T	c.(4093-4095)aaG>aaT	p.K1365N	PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000409834.1_Missense_Mutation_p.K976N|PCDH15_ENST00000361849.3_Missense_Mutation_p.K1365N|PCDH15_ENST00000395445.1_Missense_Mutation_p.K1372N|PCDH15_ENST00000395433.1_Missense_Mutation_p.K1343N|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395432.2_Missense_Mutation_p.K1328N|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000414778.1_Missense_Mutation_p.K1370N|PCDH15_ENST00000395438.1_Missense_Mutation_p.K1365N|PCDH15_ENST00000395430.1_Missense_Mutation_p.K1365N|PCDH15_ENST00000437009.1_Missense_Mutation_p.K1294N|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000373965.2_Missense_Mutation_p.K1372N	NM_033056.3	NP_149045.3	Q96QU1	PCD15_HUMAN	protocadherin-related 15	1365					equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	calcium ion binding (GO:0005509)			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				TTTCTCCTCTCTTTTTAATGC	0.483										HNSCC(58;0.16)																												ENST00000373965.2																			0				NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237						c.(4114-4116)aaG>aaT		protocadherin-related 15							252	215	228					10																	55591182		2203	4300	6503	SO:0001583	missense	65217				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding	g.chr10:55591182C>A	AY029205	CCDS7248.1, CCDS44400.1, CCDS44401.1, CCDS44403.1, CCDS44404.1, CCDS73134.1, CCDS73135.1, CCDS73136.1, CCDS73137.1, CCDS73138.1	10q21.1	2013-01-08	2010-01-25		ENSG00000150275	ENSG00000150275		"Cadherins / Cadherin-related"	14674	protein-coding gene	gene with protein product	"cadherin-related family member 15"	605514	"deafness, autosomal recessive 23", "protocadherin 15"	USH1F, DFNB23		11398101, 14570705	Standard	NM_033056		Approved	CDHR15	uc010qhy.1	Q96QU1	OTTHUMG00000018259	ENST00000320301.6:c.4095G>T	10.37:g.55591182C>A	ENSP00000322604:p.Lys1365Asn	HNSCC(58;0.16)				PCDH15_ENST00000437009.1_Missense_Mutation_p.K1294N|PCDH15_ENST00000320301.6_Missense_Mutation_p.K1365N|PCDH15_ENST00000395430.1_Missense_Mutation_p.K1365N|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395445.1_Missense_Mutation_p.K1372N|PCDH15_ENST00000409834.1_Missense_Mutation_p.K976N|PCDH15_ENST00000395433.1_Missense_Mutation_p.K1343N|PCDH15_ENST00000395432.2_Missense_Mutation_p.K1328N|PCDH15_ENST00000395438.1_Missense_Mutation_p.K1365N|PCDH15_ENST00000414778.1_Missense_Mutation_p.K1370N|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000361849.3_Missense_Mutation_p.K1365N|PCDH15_ENST00000395440.1_Intron	p.K1372N	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN			31	4510	-		Melanoma(3;0.117)|Lung SC(717;0.238)	1365					A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Missense_Mutation	SNP	ENST00000320301.6	37	c.4116G>T	CCDS7248.1	.	.	.	.	.	.	.	.	.	.	C	18.74	3.688995	0.68271	.	.	ENSG00000150275	ENST00000373965;ENST00000414778;ENST00000455746;ENST00000395438;ENST00000409834;ENST00000395445;ENST00000395432;ENST00000361849;ENST00000395433;ENST00000320301;ENST00000395430;ENST00000417177;ENST00000437009	T;T;T;T;T;T;T;T;T;T;T	0.59502	0.4;0.45;0.39;0.4;0.35;0.3;0.26;0.32;0.27;0.27;0.26	5.75	2.53	0.30540	.	.	.	.	.	T	0.63248	0.2495	L	0.34521	1.04	0.46586	D	0.999119	D;D;D;D;D;D;D;D;D;D;D;D;D	0.76494	0.999;0.999;0.999;0.996;0.999;0.999;0.999;0.997;0.999;0.999;0.997;0.998;0.999	D;D;D;D;D;D;D;D;D;D;D;D;D	0.85130	0.997;0.979;0.979;0.933;0.985;0.979;0.997;0.928;0.971;0.971;0.947;0.947;0.979	T	0.63139	-0.6704	9	0.59425	D	0.04	.	10.8101	0.46543	0.0:0.7278:0.0:0.2722	.	1343;1365;1365;1370;1294;1328;1365;1365;1372;1372;1365;1370;1365	A2A3E8;E7EMG4;A2A3E7;C9JIG1;E7EM53;E7EMG0;A2A3E6;A2A3E3;C6ZEF5;A2A3E2;C6ZEF7;C9J4F3;Q96QU1	.;.;.;.;.;.;.;.;.;.;.;.;PCD15_HUMAN	N	1372;1370;1365;1365;976;1372;1328;1365;1343;1365;1365;1370;1294	ENSP00000363076:K1372N;ENSP00000410304:K1370N;ENSP00000378826:K1365N;ENSP00000386693:K976N;ENSP00000378832:K1372N;ENSP00000378820:K1328N;ENSP00000354950:K1365N;ENSP00000378821:K1343N;ENSP00000322604:K1365N;ENSP00000378818:K1365N;ENSP00000412628:K1294N	ENSP00000322604:K1365N	K	-	3	2	PCDH15	55261188	0.981000	0.34729	0.999000	0.59377	0.976000	0.68499	0.296000	0.19083	0.773000	0.33404	0.585000	0.79938	AAG		0.483	PCDH15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000048121.2	NM_033056		12	51	1	0	2.80697e-09	1	2.94502e-09	12	51					A	55591182	C	A	55591182	3	1	153	1	0	0	0	0	1	0	0	0	11511	912	32	5	3407	5	PCDH15	10	55591182	Missense_Mutation	SNP	C	TCGA-G9-6339-01A-12D-A30X-08	33786124	55591182	79943565	29	7486											
CAT	847	broad.mit.edu	37	chr11	34474685	34474685	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaatcctcagacacatctgAaggatccggacatggtctgg	12	8	11	10	1	3	2	1	1	2	1	5	5	5	4	2	4	0	0	2	4	2	0			TCGA-G9-6339-01A-12D-A30X-08	TCGA-G9-6339-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e297e93-6cfe-43b1-aeb2-1151c6fe2a8a	23a6d650-d249-4674-a652-4669df3e3d64	g.chr11:34474685A>G	ENST00000241052.4	+	5	618	c.529A>G	c.(529-531)Aag>Gag	p.K177E		NM_001752.3	NP_001743.1	P04040	CATA_HUMAN	catalase	177					aerobic respiration (GO:0009060)|cellular response to growth factor stimulus (GO:0071363)|cholesterol metabolic process (GO:0008203)|hemoglobin metabolic process (GO:0020027)|hydrogen peroxide catabolic process (GO:0042744)|menopause (GO:0042697)|negative regulation of apoptotic process (GO:0043066)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|nucleobase-containing small molecule metabolic process (GO:0055086)|osteoblast differentiation (GO:0001649)|positive regulation of cell division (GO:0051781)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|protein homotetramerization (GO:0051289)|protein tetramerization (GO:0051262)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide catabolic process (GO:0006195)|response to hyperoxia (GO:0055093)|response to hypoxia (GO:0001666)|response to reactive oxygen species (GO:0000302)|response to vitamin E (GO:0033197)|small molecule metabolic process (GO:0044281)|triglyceride metabolic process (GO:0006641)|ureteric bud development (GO:0001657)|UV protection (GO:0009650)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|lysosome (GO:0005764)|membrane (GO:0016020)|mitochondrial intermembrane space (GO:0005758)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)|plasma membrane (GO:0005886)	aminoacylase activity (GO:0004046)|antioxidant activity (GO:0016209)|catalase activity (GO:0004096)|enzyme binding (GO:0019899)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|NADP binding (GO:0050661)|oxidoreductase activity, acting on peroxide as acceptor (GO:0016684)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)			breast(1)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|stomach(1)|urinary_tract(3)	26		Lung NSC(402;2.76e-08)|Acute lymphoblastic leukemia(5;0.00143)|all_hematologic(20;0.0116)|Melanoma(852;0.027)		BRCA - Breast invasive adenocarcinoma(625;0.000995)	Fomepizole(DB01213)	gacacatctgaaggatccgga	0.398																																						ENST00000241052.4																			0				breast(1)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|stomach(1)|urinary_tract(3)	26						c.(529-531)Aag>Gag		catalase	Fomepizole(DB01213)						80	77	78					11																	34474685		2202	4298	6500	SO:0001583	missense	847				hydrogen peroxide catabolic process|negative regulation of apoptosis|positive regulation of cell division|protein tetramerization|purine base metabolic process|purine nucleotide catabolic process|UV protection	peroxisomal matrix|peroxisomal membrane	catalase activity|heme binding|NADP binding|protein homodimerization activity	g.chr11:34474685A>G	AY028632	CCDS7891.1	11p13	2012-10-02			ENSG00000121691	ENSG00000121691	1.11.1.6		1516	protein-coding gene	gene with protein product		115500					Standard	NM_001752		Approved		uc001mvm.3	P04040	OTTHUMG00000044353	ENST00000241052.4:c.529A>G	11.37:g.34474685A>G	ENSP00000241052:p.Lys177Glu						p.K177E	NM_001752.3	NP_001743.1	P04040	CATA_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.000995)	5	618	+		Lung NSC(402;2.76e-08)|Acute lymphoblastic leukemia(5;0.00143)|all_hematologic(20;0.0116)|Melanoma(852;0.027)	177					A8K6C0|B2RCZ9|D3DR07|Q2M1U4|Q4VXX5|Q9BWT9|Q9UC85	Missense_Mutation	SNP	ENST00000241052.4	37	c.529A>G	CCDS7891.1	.	.	.	.	.	.	.	.	.	.	A	24.7	4.558986	0.86231	.	.	ENSG00000121691	ENST00000241052	D	0.91577	-2.87	6.08	6.08	0.98989	Catalase domain (1);Catalase, N-terminal (2);	0.000000	0.85682	D	0.000000	D	0.95815	0.8638	H	0.95043	3.615	0.80722	D	1	D	0.57257	0.979	P	0.53809	0.735	D	0.96834	0.9613	10	0.87932	D	0	-31.5767	16.6438	0.85155	1.0:0.0:0.0:0.0	.	177	P04040	CATA_HUMAN	E	177	ENSP00000241052:K177E	ENSP00000241052:K177E	K	+	1	0	CAT	34431261	1.000000	0.71417	1.000000	0.80357	0.799000	0.45148	6.053000	0.71089	2.333000	0.79357	0.533000	0.62120	AAG		0.398	CAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103197.2	NM_001752		7	23	0	0	0	1	0	7	23					G	34474685	A	G	34474685	3	3	153	1	0	0	0	0	1	0	0	0	2686	247	9	4	547	4	CAT	11	34474685	Missense_Mutation	SNP	A	TCGA-G9-6339-01A-12D-A30X-08		34474685	100531831	30	7487											
PPFIA2	8499	broad.mit.edu	37	chr12	81671195	81671195	+	Splice_Site	DEL	T	T	-																															tccatattgtaaacttgttcTtttttttttattaaaaaaaa																										TCGA-G9-6339-01A-12D-A30X-08	TCGA-G9-6339-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e297e93-6cfe-43b1-aeb2-1151c6fe2a8a	23a6d650-d249-4674-a652-4669df3e3d64	g.chr12:81671195delT	ENST00000549396.1	-	28	3373		c.e28-2		PPFIA2_ENST00000443686.3_Splice_Site|PPFIA2_ENST00000541570.2_Splice_Site|PPFIA2_ENST00000333447.7_Frame_Shift_Del_p.R1059fs|PPFIA2_ENST00000550359.2_Splice_Site|PPFIA2_ENST00000407050.4_Splice_Site|PPFIA2_ENST00000548586.1_Splice_Site|PPFIA2_ENST00000552948.1_Splice_Site|PPFIA2_ENST00000550584.2_Splice_Site|PPFIA2_ENST00000549325.1_Splice_Site|PPFIA2_ENST00000541017.1_Splice_Site|PPFIA2_ENST00000545296.2_Intron|RP11-121G22.3_ENST00000549161.1_lincRNA	NM_001220476.1|NM_001282536.1|NM_003625.3	NP_001207405.1|NP_001269465.1|NP_003616.2	O75334	LIPA2_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2						cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|presynaptic active zone (GO:0048786)				NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						AAACTTGTTCtttttttttta	0.333																																						ENST00000333447.7																			0				NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						c.(3175-3177)gafs		protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2			,,,,,,,,	31,81,3200		1,0,29,4,73,1549	43	38	40		,,,,,,,,	5.7	1	12		43	81,103,7316		0,0,81,6,91,3572	no	splice-3,splice-3,splice-3,splice-3,splice-3,splice-3,splice-3,splice-3,splice-3	PPFIA2	NM_003625.3,NM_001220480.1,NM_001220479.1,NM_001220478.1,NM_001220477.1,NM_001220476.1,NM_001220475.1,NM_001220474.1,NM_001220473.1	,,,,,,,,	1,0,110,10,164,5121	A1A1,A1A2,A1R,A2A2,A2R,RR		2.4533,3.3816,2.7377	,,,,,,,,	,,,,,,,,	81671195	112,184,10516	1760	4021	5781	SO:0001630	splice_region_variant	8499							g.chr12:81671195delT	AF034799	CCDS55850.1, CCDS55851.1, CCDS55852.1, CCDS55853.1, CCDS55854.1, CCDS55855.1, CCDS55856.1, CCDS55857.1, CCDS59236.1, CCDS73503.1	12q21.31	2013-01-10						"Sterile alpha motif (SAM) domain containing"	9246	protein-coding gene	gene with protein product	"Liprin-alpha2"	603143				9624153	Standard	NM_003625		Approved		uc031qis.1	O75334		ENST00000549396.1:c.3213-2A>-	12.37:g.81671195delT						PPFIA2_ENST00000541570.2_Splice_Site|PPFIA2_ENST00000545296.2_Intron|PPFIA2_ENST00000541017.1_Splice_Site|PPFIA2_ENST00000443686.3_Splice_Site|RP11-121G22.3_ENST00000549161.1_lincRNA|PPFIA2_ENST00000549396.1_Splice_Site|PPFIA2_ENST00000552948.1_Splice_Site|PPFIA2_ENST00000548586.1_Splice_Site|PPFIA2_ENST00000407050.4_Splice_Site|PPFIA2_ENST00000550584.2_Splice_Site|PPFIA2_ENST00000550359.2_Splice_Site|PPFIA2_ENST00000549325.1_Splice_Site	p.R1059fs			B7Z663	B7Z663_HUMAN			26	3174	-			970					B3KVT5|B3KXA0|B7Z2A6|B7Z3U9|B7Z663|B7ZKZ5|E7ERB8|E7ETG6|F8VP68|Q2M3G8	Frame_Shift_Del	DEL	ENST00000549396.1	37	c.3175delA	CCDS55857.1																																																																																				0.333	PPFIA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000408030.1		Intron	2	4						2	4	---	---	---	---	-	81671195	T	-	81671195	8	5	153	1	0	1	0	1	0	0	1	0	12310	1623	56	0	582	0	PPFIA2	12	81671195	Splice_Site	DEL	T	TCGA-G9-6339-01A-12D-A30X-08		81671195	52180700	31	7488											
ELK3	2004	broad.mit.edu	37	chr12	96641092	96641092	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aataaaaccgacaagcacgtCaccaggccggtggtgtccct	12	6	10	13	3	1	0	1	0	0	0	2	1	2	0	4	3	2	1	4	3	4	1			TCGA-G9-6339-01A-12D-A30X-08	TCGA-G9-6339-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e297e93-6cfe-43b1-aeb2-1151c6fe2a8a	23a6d650-d249-4674-a652-4669df3e3d64	g.chr12:96641092C>T	ENST00000228741.3	+	3	908	c.582C>T	c.(580-582)gtC>gtT	p.V194V	ELK3_ENST00000552142.1_Intron	NM_005230.2	NP_005221.2	P41970	ELK3_HUMAN	ELK3, ETS-domain protein (SRF accessory protein 2)	194					angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|transcription from RNA polymerase II promoter (GO:0006366)|wound healing (GO:0042060)	intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	purine-rich negative regulatory element binding (GO:0032422)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(1)|lung(5)|ovary(2)|prostate(1)|stomach(2)	20	all_cancers(2;0.00173)					ACAAGCACGTCACCAGGCCGG	0.607																																						ENST00000228741.3																			0				breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(1)|lung(5)|ovary(2)|prostate(1)|stomach(2)	20						c.(580-582)gtC>gtT		ELK3, ETS-domain protein (SRF accessory protein 2)							77	79	78					12																	96641092		2203	4300	6503	SO:0001819	synonymous_variant	2004				negative regulation of transcription, DNA-dependent|signal transduction	mitochondrion	protein binding|purine-rich negative regulatory element binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr12:96641092C>T	BC017371	CCDS9060.1	12q23	2006-12-30				ENSG00000111145			3325	protein-coding gene	gene with protein product		600247				7851904	Standard	NM_005230		Approved	ERP, NET, SAP2	uc001teo.1	P41970		ENST00000228741.3:c.582C>T	12.37:g.96641092C>T						ELK3_ENST00000552142.1_Intron	p.V194V	NM_005230.2	NP_005221.2	P41970	ELK3_HUMAN			3	908	+	all_cancers(2;0.00173)		194					B2R6S6|Q6FG57|Q6GU29|Q9UD17	Silent	SNP	ENST00000228741.3	37	c.582C>T	CCDS9060.1																																																																																				0.607	ELK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408694.1	NM_005230		7	76	0	0	0	1	0	7	76					T	96641092	C	T	96641092	2	4	153	1	0	0	0	0	0	0	0	1	5060	813	29	3		3	ELK3	12	96641092	Silent	SNP	C	TCGA-G9-6339-01A-12D-A30X-08	14969897	96641092	37210803	32	7489											
ANAPC5	51433	broad.mit.edu	37	chr12	121766164	121766164	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgttttctgtgcgatgctgAtatcgatgagctctgacagg	7	13	12	9	3	2	3	0	3	2	0	3	5	2	3	1	1	3	3	1	1	1	3			TCGA-G9-6339-01A-12D-A30X-08	TCGA-G9-6339-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e297e93-6cfe-43b1-aeb2-1151c6fe2a8a	23a6d650-d249-4674-a652-4669df3e3d64	g.chr12:121766164A>G	ENST00000261819.3	-	10	1380	c.1259T>C	c.(1258-1260)aTc>aCc	p.I420T	ANAPC5_ENST00000541887.1_Missense_Mutation_p.I407T|ANAPC5_ENST00000344395.4_Missense_Mutation_p.I308T|ANAPC5_ENST00000441917.2_Missense_Mutation_p.I308T|ANAPC5_ENST00000535482.1_Missense_Mutation_p.I86T|ANAPC5_ENST00000544314.1_5'UTR	NM_016237.4	NP_057321.2	Q9UJX4	APC5_HUMAN	anaphase promoting complex subunit 5	420					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein phosphatase binding (GO:0019903)			breast(6)|endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|prostate(1)|skin(3)	31	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					TGCGATGCTGATATCGATGAG	0.547																																						ENST00000261819.3																			0				breast(6)|endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|prostate(1)|skin(3)	31						c.(1258-1260)aTc>aCc		anaphase promoting complex subunit 5							136	106	116					12																	121766164		2203	4300	6503	SO:0001583	missense	51433				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|G2/M transition of mitotic cell cycle|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm	protein phosphatase binding|ubiquitin-protein ligase activity	g.chr12:121766164A>G	AF191339	CCDS9220.1, CCDS45000.1	12q24.31	2014-08-12			ENSG00000089053	ENSG00000089053		"Anaphase promoting complex subunits"	15713	protein-coding gene	gene with protein product		606948				9469815	Standard	NM_016237		Approved	APC5	uc001uag.3	Q9UJX4	OTTHUMG00000169157	ENST00000261819.3:c.1259T>C	12.37:g.121766164A>G	ENSP00000261819:p.Ile420Thr					ANAPC5_ENST00000535482.1_Missense_Mutation_p.I86T|ANAPC5_ENST00000441917.2_Missense_Mutation_p.I308T|ANAPC5_ENST00000544314.1_5'UTR|ANAPC5_ENST00000344395.4_Missense_Mutation_p.I308T|ANAPC5_ENST00000541887.1_Missense_Mutation_p.I407T	p.I420T	NM_016237.4	NP_057321.2	Q9UJX4	APC5_HUMAN			10	1380	-	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)		420					E9PFB2|Q8N4H7|Q9BQD4	Missense_Mutation	SNP	ENST00000261819.3	37	c.1259T>C	CCDS9220.1	.	.	.	.	.	.	.	.	.	.	A	8.805	0.933876	0.18206	.	.	ENSG00000089053	ENST00000441917;ENST00000541887;ENST00000261819;ENST00000535482;ENST00000544314;ENST00000344395	.	.	.	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	T	0.55609	0.1931	L	0.45581	1.43	0.80722	D	1	B;B;B;B	0.30326	0.234;0.043;0.129;0.276	B;B;B;B	0.33196	0.046;0.046;0.113;0.159	T	0.51980	-0.8636	9	0.10377	T	0.69	.	15.6048	0.76658	1.0:0.0:0.0:0.0	.	86;22;308;420	F5H0N1;B4DFK4;E9PFB2;Q9UJX4	.;.;.;APC5_HUMAN	T	308;407;420;86;22;308	.	ENSP00000261819:I420T	I	-	2	0	ANAPC5	120250547	1.000000	0.71417	0.999000	0.59377	0.972000	0.66771	8.468000	0.90393	2.279000	0.76181	0.533000	0.62120	ATC		0.547	ANAPC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402582.1			11	36	0	0	0	1	0	11	36					G	121766164	A	G	121766164	3	3	153	1	0	0	0	0	1	0	0	0	605	333	12	4	1040	4	ANAPC5	12	121766164	Missense_Mutation	SNP	A	TCGA-G9-6339-01A-12D-A30X-08	25125072	121766164	12085731	33	7490											
DYNC1H1	1778	broad.mit.edu	37	chr14	102482730	102482730	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tggtccctgtctggagacagCcggctaaaaatgagagcaga	12	7	13	9	1	1	3	0	1	1	3	2	5	2	3	2	3	2	2	2	3	3	1			TCGA-G9-6339-01A-12D-A30X-08	TCGA-G9-6339-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e297e93-6cfe-43b1-aeb2-1151c6fe2a8a	23a6d650-d249-4674-a652-4669df3e3d64	g.chr14:102482730C>T	ENST00000360184.4	+	37	7682	c.7518C>T	c.(7516-7518)agC>agT	p.S2506S		NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	2506					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|cytoplasmic mRNA processing body assembly (GO:0033962)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic spindle organization (GO:0007052)|stress granule assembly (GO:0034063)|transport (GO:0006810)	centrosome (GO:0005813)|cytoplasmic dynein complex (GO:0005868)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|poly(A) RNA binding (GO:0044822)			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						CTGGAGACAGCCGGCTAAAAA	0.418																																						ENST00000360184.4																			0				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						c.(7516-7518)agC>agT		dynein, cytoplasmic 1, heavy chain 1							67	66	66					14																	102482730		2203	4300	6503	SO:0001819	synonymous_variant	1778				cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding	g.chr14:102482730C>T	AB002323	CCDS9966.1	14q32.31	2006-12-21	2005-11-24	2005-11-24		ENSG00000197102		"Cytoplasmic dyneins"	2961	protein-coding gene	gene with protein product		600112	"dynein, cytoplasmic, heavy polypeptide 1"	DNECL, DNCL, DNCH1		16260502, 8666668	Standard	NM_001376		Approved	Dnchc1, HL-3, p22, DHC1	uc001yks.2	Q14204		ENST00000360184.4:c.7518C>T	14.37:g.102482730C>T							p.S2506S	NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN			37	7682	+			2506					B0I1R0|Q6DKQ7|Q8WU28|Q92814|Q9Y4G5	Silent	SNP	ENST00000360184.4	37	c.7518C>T	CCDS9966.1																																																																																				0.418	DYNC1H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414574.1	NM_001376		4	56	0	0	0	1	0	4	56					T	102482730	C	T	102482730	2	4	153	1	0	0	0	0	0	0	0	1	4841	738	26	3		3	DYNC1H1	14	102482730	Silent	SNP	C	TCGA-G9-6339-01A-12D-A30X-08		102482730	4866810	34	7491											
USP3	9960	broad.mit.edu	37	chr15	63852135	63852135	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaaaacagcaggaaggcggAcataccacaccaggagccaa	17	1	12	11	1	0	0	0	0	0	0	0	4	0	4	3	5	4	1	3	5	5	1			TCGA-G9-6339-01A-12D-A30X-08	TCGA-G9-6339-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e297e93-6cfe-43b1-aeb2-1151c6fe2a8a	23a6d650-d249-4674-a652-4669df3e3d64	g.chr15:63852135A>G	ENST00000380324.3	+	7	742	c.613A>G	c.(613-615)Aca>Gca	p.T205A	USP3_ENST00000268049.7_Missense_Mutation_p.T183A|USP3_ENST00000559711.1_Missense_Mutation_p.T116A|USP3_ENST00000539772.1_Intron|USP3_ENST00000540797.1_Missense_Mutation_p.T161A|USP3-AS1_ENST00000559861.1_RNA|USP3_ENST00000558285.1_Missense_Mutation_p.T188A|USP3-AS1_ENST00000559357.1_RNA|USP3_ENST00000536001.1_Intron|USP3-AS1_ENST00000560350.1_RNA	NM_006537.3	NP_006528.2	Q9Y6I4	UBP3_HUMAN	ubiquitin specific peptidase 3	205	USP.				DNA repair (GO:0006281)|histone deubiquitination (GO:0016578)|mitotic cell cycle (GO:0000278)|regulation of protein stability (GO:0031647)|ubiquitin-dependent protein catabolic process (GO:0006511)	nuclear chromatin (GO:0000790)	histone binding (GO:0042393)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			endometrium(3)|large_intestine(7)|lung(4)	14				GBM - Glioblastoma multiforme(80;0.0187)		AGGAAGGCGGACATACCACAC	0.413																																						ENST00000268049.7																			0				endometrium(3)|large_intestine(7)|lung(4)	14						c.(547-549)Aca>Gca		ubiquitin specific peptidase 3							105	97	100					15																	63852135		2203	4300	6503	SO:0001583	missense	9960				DNA repair|histone deubiquitination|mitotic cell cycle|regulation of protein stability|ubiquitin-dependent protein catabolic process	nuclear chromatin	histone binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding	g.chr15:63852135A>G	AF073344	CCDS32265.1, CCDS58370.1	15q22.3	2008-04-11	2005-08-08			ENSG00000140455		"Ubiquitin-specific peptidases"	12626	protein-coding gene	gene with protein product		604728	"ubiquitin specific protease 3"			12838346	Standard	NM_006537		Approved		uc002amf.4	Q9Y6I4		ENST00000380324.3:c.613A>G	15.37:g.63852135A>G	ENSP00000369681:p.Thr205Ala					USP3_ENST00000380324.3_Missense_Mutation_p.T205A|USP3_ENST00000536001.1_Intron|USP3_ENST00000558285.1_Missense_Mutation_p.T188A|USP3_ENST00000540797.1_Missense_Mutation_p.T161A|USP3_ENST00000539772.1_Intron|USP3_ENST00000559711.1_Missense_Mutation_p.T116A|USP3-AS1_ENST00000559357.1_RNA|USP3-AS1_ENST00000559861.1_RNA|USP3-AS1_ENST00000560350.1_RNA	p.T183A			Q9Y6I4	UBP3_HUMAN		GBM - Glioblastoma multiforme(80;0.0187)	8	871	+			205					B4DVU5|F5H1A6|Q8WVD0	Missense_Mutation	SNP	ENST00000380324.3	37	c.547A>G	CCDS32265.1	.	.	.	.	.	.	.	.	.	.	A	15.75	2.924718	0.52653	.	.	ENSG00000140455	ENST00000540797;ENST00000380324;ENST00000268049;ENST00000536848;ENST00000538686	T;T;T	0.20598	2.06;2.16;2.25	6.1	6.1	0.99115	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.040476	0.85682	D	0.000000	T	0.10208	0.0250	N	0.03608	-0.345	0.80722	D	1	B;B;B;B	0.06786	0.0;0.001;0.001;0.0	B;B;B;B	0.09377	0.001;0.003;0.002;0.004	T	0.21245	-1.0251	10	0.08599	T	0.76	.	16.686	0.85306	1.0:0.0:0.0:0.0	.	161;161;183;205	F5H1A6;B4DVU5;Q6JHV3;Q9Y6I4	.;.;.;UBP3_HUMAN	A	161;205;183;120;36	ENSP00000445828:T161A;ENSP00000369681:T205A;ENSP00000268049:T183A	ENSP00000268049:T183A	T	+	1	0	USP3	61639188	1.000000	0.71417	0.885000	0.34714	0.963000	0.63663	9.327000	0.96396	2.340000	0.79590	0.528000	0.53228	ACA		0.413	USP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417773.1			5	22	0	0	0	1	0	5	22					G	63852135	A	G	63852135	3	3	153	1	0	0	0	0	1	0	0	0	17057	275	10	4	639	4	USP3	15	63852135	Missense_Mutation	SNP	A	TCGA-G9-6339-01A-12D-A30X-08		63852135	38679257	35	7492											
PDPK1	5170	broad.mit.edu	37	chr16	2636776	2636776	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgggcctgccccagaggtcaGgcagcaacatagagcagtac	11	4	13	13	1	1	2	1	0	0	2	1	2	1	2	3	3	5	4	3	3	3	2			TCGA-G9-6339-01A-12D-A30X-08	TCGA-G9-6339-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e297e93-6cfe-43b1-aeb2-1151c6fe2a8a	23a6d650-d249-4674-a652-4669df3e3d64	g.chr16:2636776G>A	ENST00000342085.4	+	11	1374	c.1225G>A	c.(1225-1227)Ggc>Agc	p.G409S	PDPK1_ENST00000389224.3_Missense_Mutation_p.G382S|PDPK1_ENST00000354836.5_Missense_Mutation_p.G385S|PDPK1_ENST00000441549.3_Missense_Mutation_p.G409S|PDPK1_ENST00000268673.7_Missense_Mutation_p.G282S	NM_002613.4	NP_002604.1	O15530	PDPK1_HUMAN	3-phosphoinositide dependent protein kinase 1	409					actin cytoskeleton organization (GO:0030036)|activation of protein kinase B activity (GO:0032148)|blood coagulation (GO:0007596)|calcium-mediated signaling (GO:0019722)|cell migration (GO:0016477)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to insulin stimulus (GO:0032869)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway (GO:0097191)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|focal adhesion assembly (GO:0048041)|hyperosmotic response (GO:0006972)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|intracellular signal transduction (GO:0035556)|negative regulation of cardiac muscle cell apoptotic process (GO:0010667)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-threonine phosphorylation (GO:0018107)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of endothelial cell migration (GO:0010594)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of mast cell degranulation (GO:0043304)|regulation of transcription, DNA-templated (GO:0006355)|synaptic transmission (GO:0007268)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|transcription, DNA-templated (GO:0006351)|type B pancreatic cell development (GO:0003323)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	3-phosphoinositide-dependent protein kinase activity (GO:0004676)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phospholipase activator activity (GO:0016004)|phospholipase binding (GO:0043274)|protein serine/threonine kinase activity (GO:0004674)			central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(2)|ovary(1)	7		Ovarian(90;0.17)			Celecoxib(DB00482)	CCAGAGGTCAGGCAGCAACAT	0.527																																						ENST00000342085.4																			0				central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(2)|ovary(1)	7						c.(1225-1227)Ggc>Agc		3-phosphoinositide dependent protein kinase-1	Celecoxib(DB00482)						129	121	124					16																	2636776		2198	4300	6498	SO:0001583	missense	5170				actin cytoskeleton organization|activation of protein kinase B activity|insulin receptor signaling pathway|negative regulation of protein kinase activity|nerve growth factor receptor signaling pathway|peptidyl-threonine phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|synaptic transmission|T cell costimulation|T cell receptor signaling pathway	cytosol|nucleoplasm|plasma membrane	3-phosphoinositide-dependent protein kinase activity|ATP binding	g.chr16:2636776G>A	AF017995	CCDS10472.1, CCDS10473.1, CCDS58411.1	16p13.3	2014-03-20	2014-03-20		ENSG00000140992	ENSG00000140992			8816	protein-coding gene	gene with protein product	"PkB kinase"	605213				9094314, 9445477	Standard	NM_002613		Approved	PDK1	uc002cqs.4	O15530	OTTHUMG00000128874	ENST00000342085.4:c.1225G>A	16.37:g.2636776G>A	ENSP00000344220:p.Gly409Ser					PDPK1_ENST00000268673.7_Missense_Mutation_p.G282S|PDPK1_ENST00000441549.3_Missense_Mutation_p.G409S|PDPK1_ENST00000389224.3_Missense_Mutation_p.G382S|PDPK1_ENST00000354836.5_Missense_Mutation_p.G385S	p.G409S	NM_002613.4	NP_002604.1	O15530	PDPK1_HUMAN			11	1374	+		Ovarian(90;0.17)	409					H0Y4Z0|Q59EH6|Q6FI20|Q8IV52|Q9BRD5	Missense_Mutation	SNP	ENST00000342085.4	37	c.1225G>A	CCDS10472.1	.	.	.	.	.	.	.	.	.	.	G	9.183	1.024077	0.19433	.	.	ENSG00000140992	ENST00000342085;ENST00000441549;ENST00000268673;ENST00000354836;ENST00000389224	T;T;T;T	0.69685	-0.42;1.14;0.09;-0.42	5.05	4.07	0.47477	.	0.232209	0.44285	D	0.000462	T	0.36303	0.0962	N	0.02973	-0.45	0.47778	D	0.999513	B;B;B	0.19583	0.011;0.037;0.0	B;B;B	0.18561	0.005;0.022;0.001	T	0.39375	-0.9617	10	0.02654	T	1	-12.6287	12.8121	0.57645	0.0826:0.0:0.9174:0.0	.	447;282;409	Q59EH6;O15530-4;O15530	.;.;PDPK1_HUMAN	S	409;447;282;385;382	ENSP00000344220:G409S;ENSP00000268673:G282S;ENSP00000346895:G385S;ENSP00000373876:G382S	ENSP00000268673:G282S	G	+	1	0	PDPK1	2576777	1.000000	0.71417	0.959000	0.39883	0.986000	0.74619	4.466000	0.60148	2.627000	0.88993	0.655000	0.94253	GGC		0.527	PDPK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250831.3			36	111	0	0	0	1	0	36	111					A	2636776	G	A	2636776	3	1	153	1	0	0	0	0	1	0	0	0	11687	1000	35	3	1267	3	PDPK1	16	2636776	Missense_Mutation	SNP	G	TCGA-G9-6339-01A-12D-A30X-08		2636776	87717977	36	7493											
ITGAX	3687	broad.mit.edu	37	chr16	31372440	31372440	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gaattaaatgacattgcatcGaagccctcccaggaacacat	15	8	7	11	1	0	1	0	1	0	0	2	4	1	2	2	1	3	1	2	1	5	2			TCGA-G9-6339-01A-12D-A30X-08	TCGA-G9-6339-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e297e93-6cfe-43b1-aeb2-1151c6fe2a8a	23a6d650-d249-4674-a652-4669df3e3d64	g.chr16:31372440G>A	ENST00000268296.4	+	9	1039	c.918G>A	c.(916-918)tcG>tcA	p.S306S	ITGAX_ENST00000562522.1_Silent_p.S306S	NM_000887.3	NP_000878.2	P20702	ITAX_HUMAN	integrin, alpha X (complement component 3 receptor 4 subunit)	306	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|organ morphogenesis (GO:0009887)	cell surface (GO:0009986)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|receptor activity (GO:0004872)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	77						ACATTGCATCGAAGCCCTCCC	0.363																																						ENST00000268296.4																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	77						c.(916-918)tcG>tcA		integrin, alpha X (complement component 3 receptor 4 subunit)							120	129	126					16																	31372440		2197	4300	6497	SO:0001819	synonymous_variant	3687				blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis	integrin complex	protein binding|receptor activity	g.chr16:31372440G>A	BC038237	CCDS10711.1, CCDS67014.1	16p11.2	2010-03-23	2006-02-10		ENSG00000140678	ENSG00000140678		"CD molecules", "Complement system", "Integrins"	6152	protein-coding gene	gene with protein product		151510	"integrin, alpha X (antigen CD11C (p150), alpha polypeptide)"	CD11C		3284962, 2303426	Standard	NM_001286375		Approved	CD11c	uc002ebu.1	P20702	OTTHUMG00000132465	ENST00000268296.4:c.918G>A	16.37:g.31372440G>A						ITGAX_ENST00000562522.1_Silent_p.S306S	p.S306S	NM_000887.3	NP_000878.2	P20702	ITAX_HUMAN			9	1039	+			306			VWFA.		Q8IVA6	Silent	SNP	ENST00000268296.4	37	c.918G>A	CCDS10711.1																																																																																				0.363	ITGAX-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000255628.2	NM_000887		30	104	0	0	0	1	0	30	104					A	31372440	G	A	31372440	2	1	153	1	0	0	0	0	0	0	0	1	7889	1045	37	2		2	ITGAX	16	31372440	Silent	SNP	G	TCGA-G9-6339-01A-12D-A30X-08	28735664	31372440	58982313	37	7494											
TOX3	27324	broad.mit.edu	37	chr16	52484190	52484190	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	taaggcagttctaacttactCtgttggcttcatcagcatcc	9	14	7	11	0	4	0	2	0	2	0	5	0	5	0	1	2	3	5	1	2	3	6			TCGA-G9-6339-01A-12D-A30X-08	TCGA-G9-6339-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e297e93-6cfe-43b1-aeb2-1151c6fe2a8a	23a6d650-d249-4674-a652-4669df3e3d64	g.chr16:52484190C>T	ENST00000219746.9	-	4	961	c.677G>A	c.(676-678)aGa>aAa	p.R226K	TOX3_ENST00000407228.3_Splice_Site_p.R221K	NM_001080430.2	NP_001073899.2	O15405	TOX3_HUMAN	TOX high mobility group box family member 3	226					apoptotic process (GO:0006915)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|estrogen response element binding (GO:0034056)|phosphoprotein binding (GO:0051219)|protein homodimerization activity (GO:0042803)			NS(2)|endometrium(6)|kidney(1)|lung(8)|prostate(3)|stomach(3)|upper_aerodigestive_tract(1)	24						CTAACTTACTCTGTTGGCTTC	0.463																																						ENST00000219746.9																			0				NS(2)|endometrium(6)|kidney(1)|lung(8)|prostate(3)|stomach(3)|upper_aerodigestive_tract(1)	24						c.e4+1		TOX high mobility group box family member 3							84	82	82					16																	52484190		1981	4190	6171	SO:0001630	splice_region_variant	27324				apoptosis|negative regulation of neuron apoptosis|positive regulation of anti-apoptosis|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	chromatin binding|estrogen response element binding|phosphoprotein binding|protein homodimerization activity	g.chr16:52484190C>T	U80736	CCDS54008.1, CCDS54009.1	16q12.1	2008-02-05	2007-03-20	2007-03-20		ENSG00000103460		"Trinucleotide (CAG) repeat containing"	11972	protein-coding gene	gene with protein product		611416	"trinucleotide repeat containing 9"	TNRC9		9225980	Standard	NM_001080430		Approved	CAGF9	uc002egw.2	O15405		ENST00000219746.9:c.678+1G>A	16.37:g.52484190C>T						TOX3_ENST00000407228.3_Splice_Site_p.R221_splice	p.R226_splice	NM_001080430.2	NP_001073899.2	O15405	TOX3_HUMAN			4	961	-			226					B4DRD0|B5MCW4	Splice_Site	SNP	ENST00000219746.9	37	c.678_splice	CCDS54009.1	.	.	.	.	.	.	.	.	.	.	C	17.37	3.373115	0.61624	.	.	ENSG00000103460	ENST00000219746;ENST00000407228	T;T	0.10288	2.9;2.89	5.75	5.75	0.90469	.	0.000000	0.85682	D	0.000000	T	0.10594	0.0259	N	0.01209	-0.955	0.58432	D	0.999999	D;D	0.58268	0.982;0.982	D;D	0.67548	0.952;0.952	T	0.57388	-0.7820	10	0.15066	T	0.55	.	18.1038	0.89513	0.0:1.0:0.0:0.0	.	221;226	B4DRD0;O15405	.;TOX3_HUMAN	K	226;221	ENSP00000219746:R226K;ENSP00000385705:R221K	ENSP00000219746:R226K	R	-	2	0	TOX3	51041691	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	6.029000	0.70895	2.704000	0.92352	0.591000	0.81541	AGA		0.463	TOX3-003	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000422534.1	XM_049037	Missense_Mutation	13	41	0	0	0	1	0	13	41					T	52484190	C	T	52484190	5	4	153	1	0	0	0	0	0	0	1	0	16376	927	32	3	1069	3	TOX3	16	52484190	Splice_Site	SNP	C	TCGA-G9-6339-01A-12D-A30X-08	21111750	52484190	37870563	38	7495											
P2RX5	5026	broad.mit.edu	37	chr17	3593952	3593952	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtcgctgtccttggagcacGcgccatcaggaatgccttca	8	9	11	13	3	2	0	2	0	0	0	4	2	3	2	3	2	2	2	3	2	1	2	rs374084034		TCGA-G9-6339-01A-12D-A30X-08	TCGA-G9-6339-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e297e93-6cfe-43b1-aeb2-1151c6fe2a8a	23a6d650-d249-4674-a652-4669df3e3d64	g.chr17:3593952G>A	ENST00000225328.5	-	4	781	c.383C>T	c.(382-384)gCg>gTg	p.A128V	P2RX5_ENST00000550772.1_5'Flank|P2RX5_ENST00000552276.1_Missense_Mutation_p.A128V|P2RX5_ENST00000435558.1_Missense_Mutation_p.A128V|P2RX5_ENST00000551178.1_Missense_Mutation_p.A104V|P2RX5-TAX1BP3_ENST00000550383.1_Missense_Mutation_p.A128V|P2RX5_ENST00000547178.1_Missense_Mutation_p.A128V|P2RX5_ENST00000345901.3_Missense_Mutation_p.A104V|P2RX5_ENST00000552050.1_Missense_Mutation_p.A68V	NM_001204519.1|NM_002561.3	NP_001191448.1|NP_002552.2	Q93086	P2RX5_HUMAN	purinergic receptor P2X, ligand-gated ion channel, 5	128					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|ion transmembrane transport (GO:0034220)|nervous system development (GO:0007399)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of calcium-mediated signaling (GO:0050850)|purinergic nucleotide receptor signaling pathway (GO:0035590)|signal transduction (GO:0007165)|transport (GO:0006810)	integral component of nuclear inner membrane (GO:0005639)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|extracellular ATP-gated cation channel activity (GO:0004931)|ion channel activity (GO:0005216)|purinergic nucleotide receptor activity (GO:0001614)|transmembrane signaling receptor activity (GO:0004888)			endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	11						CTTGGAGCACGCGCCATCAGG	0.637																																						ENST00000550383.1																			0											c.(382-384)gCg>gTg				G	VAL/ALA,VAL/ALA,VAL/ALA,VAL/ALA	0,4406		0,0,2203	50	47	48		383,311,383,311	-9.9	0	17		48	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense	P2RX5	NM_001204519.1,NM_001204520.1,NM_002561.3,NM_175080.2	64,64,64,64	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign,benign,benign,benign	128/422,104/399,128/423,104/398	3593952	1,13005	2203	4300	6503	SO:0001583	missense	0							g.chr17:3593952G>A	AF016709	CCDS11034.1, CCDS11035.1, CCDS56014.1, CCDS56015.1	17p13.3	2012-01-17			ENSG00000083454	ENSG00000083454		"Purinergic receptors", "Ligand-gated ion channels / Purinergic receptors, ionotropic"	8536	protein-coding gene	gene with protein product		602836				9414125	Standard	NM_002561		Approved	P2X5	uc002fwi.3	Q93086	OTTHUMG00000090700	ENST00000225328.5:c.383C>T	17.37:g.3593952G>A	ENSP00000225328:p.Ala128Val					P2RX5_ENST00000435558.1_Missense_Mutation_p.A128V|P2RX5_ENST00000552276.1_Missense_Mutation_p.A128V|P2RX5_ENST00000552050.1_Missense_Mutation_p.A68V|P2RX5_ENST00000225328.5_Missense_Mutation_p.A128V|P2RX5_ENST00000551178.1_Missense_Mutation_p.A104V|P2RX5_ENST00000547178.1_Missense_Mutation_p.A128V|P2RX5_ENST00000345901.3_Missense_Mutation_p.A104V	p.A128V							4	571	-								G5E981|O43450|O75540|Q308M5|Q59F38|Q8IXW4|Q93087|Q9NZV0	Missense_Mutation	SNP	ENST00000225328.5	37	c.383C>T	CCDS11034.1	.	.	.	.	.	.	.	.	.	.	G	4.083	0.013257	0.07912	0.0	1.16E-4	ENSG00000083454	ENST00000435558;ENST00000551178;ENST00000547178;ENST00000225328;ENST00000345901;ENST00000552050;ENST00000440619	T;T;T;T;T;T	0.04406	3.63;3.63;3.63;3.63;3.63;3.63	4.95	-9.9	0.00461	.	5.299570	0.00166	N	0.000000	T	0.01558	0.0050	N	0.03016	-0.435	0.09310	N	1	B;B;B;B;B;B	0.20052	0.041;0.006;0.004;0.004;0.004;0.004	B;B;B;B;B;B	0.15870	0.005;0.008;0.011;0.008;0.014;0.008	T	0.42666	-0.9438	10	0.16420	T	0.52	-12.735	1.2496	0.01980	0.1565:0.316:0.256:0.2715	.	68;104;128;104;128;128	B4DEG2;G5E981;Q93086-1;Q93086-2;Q93086;Q93086-4	.;.;.;.;P2RX5_HUMAN;.	V	128;104;128;128;104;68;128	ENSP00000415370:A128V;ENSP00000447545:A104V;ENSP00000448355:A128V;ENSP00000225328:A128V;ENSP00000342161:A104V;ENSP00000450006:A68V	ENSP00000225328:A128V	A	-	2	0	P2RX5	3540701	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.836000	0.01690	-3.379000	0.00175	-1.851000	0.00568	GCG		0.637	P2RX5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207388.3	NM_002561, NM_175080, NM_175081		14	39	0	0	0	1	0	14	39					A	3593952	G	A	3593952	3	1	153	1	0	0	0	0	1	0	0	0	11343	1087	38	1	925	1	P2RX5	17	3593952	Missense_Mutation	SNP	G	TCGA-G9-6339-01A-12D-A30X-08		3593952	77601258	39	7496											
NOL4	8715	broad.mit.edu	37	chr18	31802972	31802972	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	accgtggtcttgacaggcacGtagagcacttgcttggcgcc	7	9	13	12	3	1	2	0	1	1	1	1	2	1	2	2	3	2	4	2	3	1	4			TCGA-G9-6339-01A-12D-A30X-08	TCGA-G9-6339-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e297e93-6cfe-43b1-aeb2-1151c6fe2a8a	23a6d650-d249-4674-a652-4669df3e3d64	g.chr18:31802972G>T	ENST00000261592.5	-	1	543	c.246C>A	c.(244-246)taC>taA	p.Y82*	NOL4_ENST00000589544.1_Nonsense_Mutation_p.Y82*|NOL4_ENST00000590846.1_5'Flank|RP11-379L18.1_ENST00000587528.1_RNA|NOL4_ENST00000269185.4_5'UTR|NOL4_ENST00000535475.1_5'Flank|NOL4_ENST00000538587.1_5'Flank	NM_001198546.1|NM_003787.4	NP_001185475.1|NP_003778.2	O94818	NOL4_HUMAN	nucleolar protein 4	82						nucleolus (GO:0005730)	RNA binding (GO:0003723)			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	51						TGACAGGCACGTAGAGCACTT	0.627																																						ENST00000261592.5																			0				NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	51						c.(244-246)taC>taA		nucleolar protein 4							38	41	40					18																	31802972		2041	4190	6231	SO:0001587	stop_gained	8715					nucleolus	RNA binding	g.chr18:31802972G>T	AB017800	CCDS11907.2, CCDS56058.1, CCDS56059.1, CCDS59308.1	18q12	2010-05-04			ENSG00000101746	ENSG00000101746			7870	protein-coding gene	gene with protein product	"cancer/testis antigen 125"	603577				9813152	Standard	NM_003787		Approved	NOLP, HRIHFB2255, CT125	uc010dmi.3	O94818	OTTHUMG00000132291	ENST00000261592.5:c.246C>A	18.37:g.31802972G>T	ENSP00000261592:p.Tyr82*					NOL4_ENST00000269185.4_5'UTR|RP11-379L18.1_ENST00000587528.1_RNA|NOL4_ENST00000589544.1_Nonsense_Mutation_p.Y82*	p.Y82*	NM_001198546.1|NM_003787.4	NP_001185475.1|NP_003778.2	O94818	NOL4_HUMAN			1	543	-			82					B4DSQ0|B7Z3Z7|F5H1E3|Q6IBS2|Q9BWF1	Nonsense_Mutation	SNP	ENST00000261592.5	37	c.246C>A	CCDS11907.2	.	.	.	.	.	.	.	.	.	.	G	39	7.803996	0.98498	.	.	ENSG00000101746	ENST00000261592	.	.	.	5.72	4.85	0.62838	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-2.8724	11.8733	0.52534	0.0817:0.0:0.9183:0.0	.	.	.	.	X	82	.	ENSP00000261592:Y82X	Y	-	3	2	NOL4	30056970	1.000000	0.71417	0.996000	0.52242	0.966000	0.64601	4.172000	0.58243	1.419000	0.47118	0.561000	0.74099	TAC		0.627	NOL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255386.1	NM_003787		9	38	1	0	7.48243e-07	1	7.48243e-07	9	38					T	31802972	G	T	31802972	4	4	153	1	0	0	0	0	0	1	0	0	10524	1140	40	5	1714	5	NOL4	18	31802972	Nonsense_Mutation	SNP	G	TCGA-G9-6339-01A-12D-A30X-08		31802972	46274276	40	7497											
ILVBL	10994	broad.mit.edu	37	chr19	15234004	15234004	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	agcattcttcaccgcagtcaCcgtgttggtgaggccagggc	7	9	13	12	2	3	1	2	1	1	0	3	1	3	1	3	3	1	3	3	3	0	3			TCGA-G9-6339-01A-12D-A30X-08	TCGA-G9-6339-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e297e93-6cfe-43b1-aeb2-1151c6fe2a8a	23a6d650-d249-4674-a652-4669df3e3d64	g.chr19:15234004C>A	ENST00000263383.3	-	4	527	c.388G>T	c.(388-390)Gtg>Ttg	p.V130L	AC003956.1_ENST00000598450.1_RNA|ILVBL_ENST00000534378.1_Missense_Mutation_p.V23L|ILVBL_ENST00000531635.1_5'UTR	NM_006844.3	NP_006835.2	A1L0T0	ILVBL_HUMAN	ilvB (bacterial acetolactate synthase)-like	130						integral component of membrane (GO:0016021)|membrane (GO:0016020)	magnesium ion binding (GO:0000287)|thiamine pyrophosphate binding (GO:0030976)|transferase activity (GO:0016740)			NS(3)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(1)	26						ACCGCAGTCACCGTGTTGGTG	0.627																																						ENST00000263383.3																			0				NS(3)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(1)	26						c.(388-390)Gtg>Ttg		ilvB (bacterial acetolactate synthase)-like							92	89	90					19																	15234004		2203	4300	6503	SO:0001583	missense	10994					integral to membrane	magnesium ion binding|thiamine pyrophosphate binding|transferase activity	g.chr19:15234004C>A	U61263	CCDS12325.1	19p13.1	2008-07-16			ENSG00000105135	ENSG00000105135			6041	protein-coding gene	gene with protein product	"acetolactate synthase homolog"	605770				8954801	Standard	NM_006844		Approved	209L8, AHAS, ILV2H, MGC1269, FLJ39061, MGC19535	uc002nam.3	A1L0T0	OTTHUMG00000165630	ENST00000263383.3:c.388G>T	19.37:g.15234004C>A	ENSP00000263383:p.Val130Leu					ILVBL_ENST00000534378.1_Missense_Mutation_p.V23L|ILVBL_ENST00000531635.1_5'UTR	p.V130L	NM_006844.3	NP_006835.2	A1L0T0	ILVBL_HUMAN			4	527	-			130					O43341|Q96F08|Q99651|Q9BWN5|Q9UEB2	Missense_Mutation	SNP	ENST00000263383.3	37	c.388G>T	CCDS12325.1	.	.	.	.	.	.	.	.	.	.	C	16.45	3.128087	0.56721	.	.	ENSG00000105135	ENST00000263383;ENST00000269733;ENST00000527093;ENST00000533747	T	0.32272	1.46	4.52	4.52	0.55395	Thiamine pyrophosphate enzyme, N-terminal TPP-binding domain (1);	0.000000	0.85682	D	0.000000	T	0.40222	0.1108	L	0.50919	1.6	0.58432	D	0.999999	P	0.41848	0.763	P	0.48982	0.597	T	0.35992	-0.9766	10	0.72032	D	0.01	-19.601	14.7176	0.69280	0.0:1.0:0.0:0.0	.	130	A1L0T0	ILVBL_HUMAN	L	130	ENSP00000263383:V130L	ENSP00000263383:V130L	V	-	1	0	ILVBL	15095004	0.998000	0.40836	0.323000	0.25347	0.056000	0.15407	3.775000	0.55349	2.085000	0.62840	0.462000	0.41574	GTG		0.627	ILVBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385439.1	NM_006844		25	103	1	0	7.38237e-10	1	7.87453e-10	25	103					A	15234004	C	A	15234004	3	1	153	1	0	0	0	0	1	0	0	0	7715	507	18	5	1562	5	ILVBL	19	15234004	Missense_Mutation	SNP	C	TCGA-G9-6339-01A-12D-A30X-08		15234004	43894979	41	7498											
USHBP1	83878	broad.mit.edu	37	chr19	17370705	17370705	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gattgaacttctcgcactcaCctgagtctcccagggttccc	7	11	8	15	1	3	2	1	2	2	0	6	3	4	2	3	1	1	2	3	1	1	3			TCGA-G9-6339-01A-12D-A30X-08	TCGA-G9-6339-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e297e93-6cfe-43b1-aeb2-1151c6fe2a8a	23a6d650-d249-4674-a652-4669df3e3d64	g.chr19:17370705C>T	ENST00000252597.3	-	5	942		c.e5+1		USHBP1_ENST00000431146.2_Splice_Site|USHBP1_ENST00000598570.1_5'Flank	NM_031941.3	NP_114147.2			Usher syndrome 1C binding protein 1											breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(10)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44						CTCGCACTCACCTGAGTCTCC	0.542																																						ENST00000252597.3																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(10)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44						c.e5+1		Usher syndrome 1C binding protein 1							73	67	69					19																	17370705		2203	4300	6503	SO:0001630	splice_region_variant	83878						PDZ domain binding	g.chr19:17370705C>T	AK096028	CCDS12353.1	19p13.11	2013-06-10			ENSG00000130307	ENSG00000130307			24058	protein-coding gene	gene with protein product		611810				11311560	Standard	XM_005260093		Approved	MCC2, AIEBP, FLJ38709	uc002nfs.1	Q8N6Y0	OTTHUMG00000182730	ENST00000252597.3:c.768+1G>A	19.37:g.17370705C>T						USHBP1_ENST00000431146.2_Splice_Site		NM_031941.3	NP_114147.2	Q8N6Y0	USBP1_HUMAN			5	942	-									Splice_Site	SNP	ENST00000252597.3	37		CCDS12353.1	.	.	.	.	.	.	.	.	.	.	C	15.86	2.957679	0.53400	.	.	ENSG00000130307	ENST00000252597;ENST00000431146;ENST00000324554	.	.	.	4.08	4.08	0.47627	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.0713	0.53618	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	USHBP1	17231705	1.000000	0.71417	0.991000	0.47740	0.785000	0.44390	3.353000	0.52247	2.560000	0.86352	0.655000	0.94253	.		0.542	USHBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463328.1	NM_031941	Intron	11	49	0	0	0	1	0	11	49					T	17370705	C	T	17370705	5	4	153	1	0	0	0	0	0	0	1	0	17034	521	18	3	1378	3	USHBP1	19	17370705	Splice_Site	SNP	C	TCGA-G9-6339-01A-12D-A30X-08	2136701	17370705	41758278	42	7499											
ZNF101	94039	broad.mit.edu	37	chr19	19790542	19790542	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attcatgttagaactcacacTggagaaaaaccttacaaatg	17	10	6	8	0	2	2	2	0	0	2	2	3	2	2	1	1	3	1	1	1	6	3			TCGA-G9-6339-01A-12D-A30X-08	TCGA-G9-6339-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e297e93-6cfe-43b1-aeb2-1151c6fe2a8a	23a6d650-d249-4674-a652-4669df3e3d64	g.chr19:19790542T>C	ENST00000592502.1	+	4	854	c.744T>C	c.(742-744)acT>acC	p.T248T	ZNF101_ENST00000415784.2_Silent_p.T128T|ZNF101_ENST00000444249.2_3'UTR			Q8IZC7	ZN101_HUMAN	zinc finger protein 101	248					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(4)|ovary(2)|prostate(1)	17						GAACTCACACTGGAGAAAAAC	0.383																																						ENST00000592502.1																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(4)|ovary(2)|prostate(1)	17						c.(742-744)acT>acC		zinc finger protein 101							34	34	34					19																	19790542		2203	4300	6503	SO:0001819	synonymous_variant	94039				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:19790542T>C	AK097169	CCDS32971.1	19p13.11	2013-01-08	2004-02-10		ENSG00000181896	ENSG00000181896		"Zinc fingers, C2H2-type", "-"	12881	protein-coding gene	gene with protein product		603983	"zinc finger protein 101 (Y2)"			11441184	Standard	XM_005260165		Approved	HZF12, DKFZp570I0164	uc002nni.2	Q8IZC7	OTTHUMG00000167736	ENST00000592502.1:c.744T>C	19.37:g.19790542T>C						ZNF101_ENST00000444249.2_3'UTR|ZNF101_ENST00000415784.2_Silent_p.T128T	p.T248T			Q8IZC7	ZN101_HUMAN			4	854	+			248					C9JU83|Q0VDG9	Silent	SNP	ENST00000592502.1	37	c.744T>C	CCDS32971.1																																																																																				0.383	ZNF101-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460559.1	NM_033204		6	23	0	0	0	1	0	6	23					C	19790542	T	C	19790542	2	2	153	1	0	0	0	0	0	0	0	1	17711	1567	55	4		4	ZNF101	19	19790542	Silent	SNP	T	TCGA-G9-6339-01A-12D-A30X-08	2419837	19790542	39338441	43	7500											
ZNF626	199777	broad.mit.edu	37	chr19	20828569	20828569	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agacaggtgatcaggtctggCttagaaacagtaatacctgt	13	10	11	7	0	2	3	1	1	1	2	2	3	2	3	1	3	2	2	1	3	4	3			TCGA-G9-6339-01A-12D-A30X-08	TCGA-G9-6339-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e297e93-6cfe-43b1-aeb2-1151c6fe2a8a	23a6d650-d249-4674-a652-4669df3e3d64	g.chr19:20828569C>A	ENST00000601440.1	-	3	293	c.147G>T	c.(145-147)aaG>aaT	p.K49N	CTC-513N18.7_ENST00000595094.1_lincRNA|ZNF626_ENST00000291750.6_Missense_Mutation_p.K49N	NM_001076675.2	NP_001070143.1	Q68DY1	ZN626_HUMAN	zinc finger protein 626	49	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(1)|lung(3)|skin(1)	6						TCAGGTCTGGCTTAGAAACAG	0.378																																						ENST00000601440.1																			0				breast(1)|endometrium(1)|lung(3)|skin(1)	6						c.(145-147)aaG>aaT		zinc finger protein 626							83	79	80					19																	20828569		2203	4300	6503	SO:0001583	missense	199777				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:20828569C>A	BC007116	CCDS32976.1, CCDS42535.1	19p13.11	2013-01-08				ENSG00000188171		"Zinc fingers, C2H2-type", "-"	30461	protein-coding gene	gene with protein product						12477932	Standard	NM_145297		Approved		uc002npb.1	Q68DY1		ENST00000601440.1:c.147G>T	19.37:g.20828569C>A	ENSP00000469958:p.Lys49Asn					CTC-513N18.7_ENST00000595094.1_lincRNA|ZNF626_ENST00000291750.6_Missense_Mutation_p.K49N	p.K49N	NM_001076675.2	NP_001070143.1	Q68DY1	ZN626_HUMAN			3	293	-			49			KRAB.		Q8N8T4|Q96QM1	Missense_Mutation	SNP	ENST00000601440.1	37	c.147G>T	CCDS42535.1	.	.	.	.	.	.	.	.	.	.	N	0.239	-1.014971	0.02078	.	.	ENSG00000188171	ENST00000392298;ENST00000305570;ENST00000291750	T	0.00932	5.53	0.171	-0.342	0.12635	Krueppel-associated box (3);	.	.	.	.	T	0.01558	0.0050	M	0.78456	2.415	0.09310	N	1	B;B	0.32753	0.383;0.032	B;B	0.35182	0.197;0.077	T	0.38436	-0.9661	8	0.49607	T	0.09	.	.	.	.	.	49;49	Q96QM1;Q68DY1	.;ZN626_HUMAN	N	49	ENSP00000291750:K49N	ENSP00000291750:K49N	K	-	3	2	ZNF626	20620409	0.009000	0.17119	0.014000	0.15608	0.014000	0.08584	-0.621000	0.05559	-0.843000	0.04189	-0.850000	0.03035	AAG		0.378	ZNF626-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447845.2	NM_145297		10	37	1	0	1.5842e-08	1	1.60935e-08	10	37					A	20828569	C	A	20828569	3	1	153	1	0	0	0	0	1	0	0	0	18047	796	28	5	1504	5	ZNF626	19	20828569	Missense_Mutation	SNP	C	TCGA-G9-6339-01A-12D-A30X-08	1038027	20828569	38300414	44	7501											
FCGBP	8857	broad.mit.edu	37	chr19	40374061	40374061	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acgtgcactgctgccgacagTtgtcaatgaggactgtctgc	8	10	12	11	2	2	1	1	1	1	0	2	3	2	2	1	1	4	3	1	1	1	1			TCGA-G9-6339-01A-12D-A30X-08	TCGA-G9-6339-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e297e93-6cfe-43b1-aeb2-1151c6fe2a8a	23a6d650-d249-4674-a652-4669df3e3d64	g.chr19:40374061T>C	ENST00000221347.6	-	26	12024	c.12017A>G	c.(12016-12018)aAc>aGc	p.N4006S	FCGBP_ENST00000595713.1_5'Flank	NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	4006	Cys-rich.					extracellular vesicular exosome (GO:0070062)				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			CTGCCGACAGTTGTCAATGAG	0.632																																						ENST00000221347.6																			0				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165						c.(12016-12018)aAc>aGc		Fc fragment of IgG binding protein							7	8	8					19																	40374061		1956	3876	5832	SO:0001583	missense	8857					extracellular region	protein binding	g.chr19:40374061T>C	D84239		19q13.2	2013-09-20			ENSG00000090920	ENSG00000275395			13572	protein-coding gene	gene with protein product	"IgG Fc binding protein", "Human Fc gamma BP"					9182547	Standard	NM_003890		Approved	FC(GAMMA)BP	uc002omp.4	Q9Y6R7	OTTHUMG00000182580	ENST00000221347.6:c.12017A>G	19.37:g.40374061T>C	ENSP00000221347:p.Asn4006Ser						p.N4006S	NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)		26	12024	-	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		4006			Cys-rich.		O95784	Missense_Mutation	SNP	ENST00000221347.6	37	c.12017A>G	CCDS12546.1	.	.	.	.	.	.	.	.	.	.	T	8.461	0.855272	0.17106	.	.	ENSG00000090920	ENST00000221347	T	0.05319	3.46	2.99	-2.0	0.07433	von Willebrand factor, type C (1);	.	.	.	.	T	0.04724	0.0128	L	0.41027	1.25	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.48525	-0.9028	9	0.10636	T	0.68	.	7.6372	0.28274	0.0:0.4375:0.0:0.5625	.	4006	Q9Y6R7	FCGBP_HUMAN	S	4006	ENSP00000221347:N4006S	ENSP00000221347:N4006S	N	-	2	0	FCGBP	45065901	0.984000	0.35163	0.046000	0.18839	0.213000	0.24496	-0.057000	0.11768	-0.739000	0.04809	0.254000	0.18369	AAC		0.632	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462507.1	NM_003890		4	11	0	0	0	1	0	4	11					C	40374061	T	C	40374061	3	2	153	1	0	0	0	0	1	0	0	0	5778	1725	60	4	4244	4	FCGBP	19	40374061	Missense_Mutation	SNP	T	TCGA-G9-6339-01A-12D-A30X-08	19545492	40374061	18754922	45	7502											
RAB4B	53916	broad.mit.edu	37	chr19	41289852	41289852	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gacatacaactcactggctgCctggctgacggatgcccgca	9	7	11	14	2	1	1	1	1	0	0	1	3	1	2	2	3	4	3	2	3	2	1			TCGA-G9-6339-01A-12D-A30X-08	TCGA-G9-6339-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e297e93-6cfe-43b1-aeb2-1151c6fe2a8a	23a6d650-d249-4674-a652-4669df3e3d64	g.chr19:41289852C>T	ENST00000594800.1	+	5	462	c.302C>T	c.(301-303)gCc>gTc	p.A101V	RAB4B-EGLN2_ENST00000601949.1_Intron|RAB4B_ENST00000602069.1_3'UTR|MIA-RAB4B_ENST00000600729.1_3'UTR|RAB4B-EGLN2_ENST00000594136.1_Missense_Mutation_p.A101V|RAB4B_ENST00000357052.2_Missense_Mutation_p.A101V			P61018	RAB4B_HUMAN	RAB4B, member RAS oncogene family	101					glucose import (GO:0046323)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	insulin-responsive compartment (GO:0032593)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	GTP binding (GO:0005525)			endometrium(2)|kidney(3)|large_intestine(3)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	11			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)			TCACTGGCTGCCTGGCTGACG	0.642																																						ENST00000594136.1																			0											c.(301-303)gCc>gTc									40	39	39					19																	41289852		2203	4300	6503	SO:0001583	missense	0							g.chr19:41289852C>T	AF165522	CCDS33030.1	19q13.2	2012-10-15			ENSG00000167578	ENSG00000167578		"RAB, member RAS oncogene"	9782	protein-coding gene	gene with protein product	"ras-related GTP-binding protein 4b", "small GTP binding protein RAB4B"	612945					Standard	NM_016154		Approved	FLJ78649, MGC52123	uc002opd.2	P61018		ENST00000594800.1:c.302C>T	19.37:g.41289852C>T	ENSP00000470246:p.Ala101Val					RAB4B_ENST00000594800.1_Missense_Mutation_p.A101V|RAB4B_ENST00000357052.2_Missense_Mutation_p.A101V|RAB4B_ENST00000602069.1_3'UTR|RAB4B-EGLN2_ENST00000601949.1_Intron|MIA-RAB4B_ENST00000600729.1_3'UTR	p.A101V							5	407	+								P22750|Q7Z514|Q9HBR6	Missense_Mutation	SNP	ENST00000594800.1	37	c.302C>T	CCDS33030.1	.	.	.	.	.	.	.	.	.	.	C	16.52	3.147680	0.57151	.	.	ENSG00000167578	ENST00000357052	T	0.77229	-1.08	4.75	2.47	0.30058	Small GTP-binding protein domain (1);	0.264898	0.33670	U	0.004676	T	0.60560	0.2278	N	0.16656	0.425	0.80722	D	1	B;B	0.29232	0.238;0.023	B;B	0.26614	0.071;0.045	T	0.60347	-0.7281	10	0.54805	T	0.06	.	10.4186	0.44338	0.6071:0.3929:0.0:0.0	.	136;101	P61018-2;P61018	.;RAB4B_HUMAN	V	101	ENSP00000349560:A101V	ENSP00000349560:A101V	A	+	2	0	RAB4B	45981692	1.000000	0.71417	0.991000	0.47740	0.950000	0.60333	5.471000	0.66762	0.962000	0.38057	0.491000	0.48974	GCC		0.642	RAB4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463168.1	NM_016154		15	36	0	0	0	1	0	15	36					T	41289852	C	T	41289852	3	4	153	1	0	0	0	0	1	0	0	0	12947	739	26	3	320	3	RAB4B	19	41289852	Missense_Mutation	SNP	C	TCGA-G9-6339-01A-12D-A30X-08	915791	41289852	17839131	46	7503											
FUT2	2524	broad.mit.edu	37	chr19	49206416	49206416	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggggatgtggacgatcaatgCaataggccgcctggggaacc	10	6	16	9	2	1	0	1	0	0	0	1	4	1	3	3	6	2	1	3	6	4	1			TCGA-G9-6339-01A-12D-A30X-08	TCGA-G9-6339-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e297e93-6cfe-43b1-aeb2-1151c6fe2a8a	23a6d650-d249-4674-a652-4669df3e3d64	g.chr19:49206416C>T	ENST00000425340.2	+	2	320	c.203C>T	c.(202-204)gCa>gTa	p.A68V	FUT2_ENST00000391876.4_Missense_Mutation_p.A68V	NM_000511.5|NM_001097638.2	NP_000502.4|NP_001091107.1	Q10981	FUT2_HUMAN	fucosyltransferase 2 (secretor status included)	68					carbohydrate metabolic process (GO:0005975)|fucosylation (GO:0036065)|L-fucose catabolic process (GO:0042355)|protein glycosylation (GO:0006486)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	fucosyltransferase activity (GO:0008417)|galactoside 2-alpha-L-fucosyltransferase activity (GO:0008107)			breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(2)	7		all_lung(116;4.89e-06)|all_epithelial(76;7.04e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.00011)|all cancers(93;0.000238)|GBM - Glioblastoma multiforme(486;0.0164)|Epithelial(262;0.017)		ACGATCAATGCAATAGGCCGC	0.607																																						ENST00000425340.2																			0				breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(2)	7						c.(202-204)gCa>gTa		fucosyltransferase 2 (secretor status included)							68	64	65					19																	49206416		2203	4300	6503	SO:0001583	missense	2524				L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to Golgi membrane	galactoside 2-alpha-L-fucosyltransferase activity	g.chr19:49206416C>T		CCDS33069.1	19q13.33	2014-07-19			ENSG00000176920	ENSG00000176920		"Fucosyltransferases"	4013	protein-coding gene	gene with protein product	"alpha (1,2) fucosyltransferase", "galactoside 2-alpha-L-fucosyltransferase 2", "GDP-L-fucose:beta-D-galactoside 2-alpha-L-fucosyltransferase 2", "alpha(1,2)FT2", "secretor factor", "secretor blood group alpha-2-fucosyltransferase"	182100		SE		1763885	Standard	NM_000511		Approved	sej, Se2, SEC2	uc010emc.3	Q10981	OTTHUMG00000164427	ENST00000425340.2:c.203C>T	19.37:g.49206416C>T	ENSP00000387498:p.Ala68Val					FUT2_ENST00000391876.4_Missense_Mutation_p.A68V	p.A68V	NM_000511.5|NM_001097638.2	NP_000502.4|NP_001091107.1	Q10981	FUT2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00011)|all cancers(93;0.000238)|GBM - Glioblastoma multiforme(486;0.0164)|Epithelial(262;0.017)	2	320	+		all_lung(116;4.89e-06)|all_epithelial(76;7.04e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)	68					Q0VAG5|Q14338|Q5D0G2	Missense_Mutation	SNP	ENST00000425340.2	37	c.203C>T	CCDS33069.1	.	.	.	.	.	.	.	.	.	.	C	10.47	1.359501	0.24598	.	.	ENSG00000176920	ENST00000522966;ENST00000425340;ENST00000391876	D;D;D	0.96136	-3.92;-3.92;-3.92	4.3	1.49	0.22878	.	.	.	.	.	D	0.92401	0.7588	L	0.54323	1.7	0.09310	N	1	B	0.11235	0.004	B	0.16289	0.015	D	0.84435	0.0579	9	0.44086	T	0.13	.	8.2317	0.31601	0.0:0.7593:0.0:0.2407	.	68	Q10981	FUT2_HUMAN	V	68	ENSP00000430227:A68V;ENSP00000387498:A68V;ENSP00000375748:A68V	ENSP00000375748:A68V	A	+	2	0	FUT2	53898228	0.006000	0.16342	0.001000	0.08648	0.048000	0.14542	2.194000	0.42668	0.309000	0.22966	0.543000	0.68304	GCA		0.607	FUT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378731.2	NM_000511		9	43	0	0	0	1	0	9	43					T	49206416	C	T	49206416	3	4	153	1	0	0	0	0	1	0	0	0	6104	710	25	3	205	3	FUT2	19	49206416	Missense_Mutation	SNP	C	TCGA-G9-6339-01A-12D-A30X-08	7916564	49206416	9922567	47	7504											
CDH4	1002	broad.mit.edu	37	chr20	60448832	60448832	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgatgctgacgacagcaccaCggccaacgggatggtgcggt	9	5	15	12	5	0	1	0	1	0	0	0	4	0	2	2	4	4	2	2	4	1	0			TCGA-G9-6339-01A-12D-A30X-08	TCGA-G9-6339-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e297e93-6cfe-43b1-aeb2-1151c6fe2a8a	23a6d650-d249-4674-a652-4669df3e3d64	g.chr20:60448832C>T	ENST00000360469.5	+	7	1014	c.926C>T	c.(925-927)aCg>aTg	p.T309M	CDH4_ENST00000543233.1_Missense_Mutation_p.T235M	NM_001794.3	NP_001785.2	P55283	CADH4_HUMAN	cadherin 4, type 1, R-cadherin (retinal)	309	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74			BRCA - Breast invasive adenocarcinoma(19;2.36e-08)			GACAGCACCACGGCCAACGGG	0.602																																						ENST00000360469.5																			0				NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74						c.(925-927)aCg>aTg		cadherin 4, type 1, R-cadherin (retinal)							150	116	127					20																	60448832		2203	4300	6503	SO:0001583	missense	1002				adherens junction organization|cell junction assembly		calcium ion binding	g.chr20:60448832C>T	L34059	CCDS13488.1, CCDS58784.1	20q13.3	2010-01-26			ENSG00000179242	ENSG00000179242		"Cadherins / Major cadherins"	1763	protein-coding gene	gene with protein product	"R-Cadherin"	603006				10191097, 10516427	Standard	NM_001794		Approved		uc002ybn.2	P55283	OTTHUMG00000032890	ENST00000360469.5:c.926C>T	20.37:g.60448832C>T	ENSP00000353656:p.Thr309Met					CDH4_ENST00000543233.1_Missense_Mutation_p.T235M	p.T309M	NM_001794.3	NP_001785.2	P55283	CADH4_HUMAN	BRCA - Breast invasive adenocarcinoma(19;2.36e-08)		7	1014	+			309			Cadherin 2.		B3KWB8|G3V1P8|Q2M208|Q5VZ44|Q9BZ05	Missense_Mutation	SNP	ENST00000360469.5	37	c.926C>T	CCDS13488.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.275387	0.80580	.	.	ENSG00000179242	ENST00000360469;ENST00000536643;ENST00000543233	T;T	0.54866	0.55;0.55	4.76	4.76	0.60689	Cadherin (4);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.73544	0.3600	M	0.78801	2.425	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.76099	-0.3083	9	.	.	.	.	17.8138	0.88624	0.0:1.0:0.0:0.0	.	309	P55283	CADH4_HUMAN	M	309;217;235	ENSP00000353656:T309M;ENSP00000443301:T235M	.	T	+	2	0	CDH4	59882227	1.000000	0.71417	0.995000	0.50966	0.938000	0.57974	4.621000	0.61233	2.196000	0.70406	0.460000	0.39030	ACG		0.602	CDH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079965.2	NM_001794		26	73	0	0	0	1	0	26	73					T	60448832	C	T	60448832	3	4	153	1	0	0	0	0	1	0	0	0	3112	536	19	1	952	1	CDH4	20	60448832	Missense_Mutation	SNP	C	TCGA-G9-6339-01A-12D-A30X-08		60448832	2576688	48	7505											
CACNA1I	8911	broad.mit.edu	37	chr22	40066135	40066135	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctcaacatgtttgtgggtgtCgtggtggagaacttccacaa	9	12	12	8	1	1	1	1	0	0	1	3	2	2	1	1	3	2	1	1	3	3	2			TCGA-G9-6339-01A-12D-A30X-08	TCGA-G9-6339-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e297e93-6cfe-43b1-aeb2-1151c6fe2a8a	23a6d650-d249-4674-a652-4669df3e3d64	g.chr22:40066135C>T	ENST00000402142.3	+	25	4287	c.4287C>T	c.(4285-4287)gtC>gtT	p.V1429V	CACNA1I_ENST00000336649.4_Silent_p.V1435V|CACNA1I_ENST00000404898.1_Silent_p.V1394V|CACNA1I_ENST00000407673.1_Silent_p.V1394V|CACNA1I_ENST00000400164.3_Silent_p.V1394V|CACNA1I_ENST00000401624.1_Silent_p.V1429V	NM_021096.3	NP_066919.2	Q9P0X4	CAC1I_HUMAN	calcium channel, voltage-dependent, T type, alpha 1I subunit	1429					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|signal transduction (GO:0007165)|sleep (GO:0030431)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Melanoma(58;0.0749)				Cinnarizine(DB00568)|Flunarizine(DB04841)|Paramethadione(DB00617)|Spironolactone(DB00421)|Verapamil(DB00661)|Zonisamide(DB00909)	TTGTGGGTGTCGTGGTGGAGA	0.602																																						ENST00000336649.4																			0				breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	60						c.(4303-4305)gtC>gtT		calcium channel, voltage-dependent, T type, alpha 1I subunit	Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661)						250	252	251					22																	40066135		2125	4238	6363	SO:0001819	synonymous_variant	8911				axon guidance|signal transduction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity|protein binding	g.chr22:40066135C>T	AF129133	CCDS46710.1, CCDS46711.1	22q13.1	2012-03-07	2007-02-16		ENSG00000100346	ENSG00000100346		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1396	protein-coding gene	gene with protein product		608230				10454147, 16382099	Standard	NM_021096		Approved	Cav3.3	uc003ayd.3	Q9P0X4	OTTHUMG00000151096	ENST00000402142.3:c.4287C>T	22.37:g.40066135C>T						CACNA1I_ENST00000401624.1_Silent_p.V1429V|CACNA1I_ENST00000400164.3_Silent_p.V1394V|CACNA1I_ENST00000402142.3_Silent_p.V1429V|CACNA1I_ENST00000404898.1_Silent_p.V1394V|CACNA1I_ENST00000407673.1_Silent_p.V1394V	p.V1435V			Q9P0X4	CAC1I_HUMAN			28	4305	+	Melanoma(58;0.0749)		1429					B0QY12|B0QY13|B0QY14|O95504|Q5JZ88|Q7Z6S9|Q8NFX6|Q9NZC8|Q9UH15|Q9UH30|Q9ULU9|Q9UNE6	Silent	SNP	ENST00000402142.3	37	c.4305C>T	CCDS46710.1																																																																																				0.602	CACNA1I-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000321290.1	NM_001003406		4	265	0	0	0	1	0	4	265					T	40066135	C	T	40066135	2	4	153	1	0	0	0	0	0	0	0	1	2546	871	31	2		2	CACNA1I	22	40066135	Silent	SNP	C	TCGA-G9-6339-01A-12D-A30X-08		40066135	11238431	49	7506											
IL1RAPL2	26280	broad.mit.edu	37	chrX	104999297	104999297	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgtcctggaaaaacactatgGatataaactcttcatcccag	14	11	6	10	0	2	0	1	0	1	0	4	2	4	2	2	2	2	0	2	2	6	4			TCGA-G9-6339-01A-12D-A30X-08	TCGA-G9-6339-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e297e93-6cfe-43b1-aeb2-1151c6fe2a8a	23a6d650-d249-4674-a652-4669df3e3d64	g.chrX:104999297G>T	ENST00000372582.1	+	10	2075	c.1319G>T	c.(1318-1320)gGa>gTa	p.G440V	IL1RAPL2_ENST00000344799.4_Missense_Mutation_p.G440V|IL1RAPL2_ENST00000485671.1_3'UTR	NM_017416.1	NP_059112.1	Q9NP60	IRPL2_HUMAN	interleukin 1 receptor accessory protein-like 2	440	TIR. {ECO:0000255|PROSITE- ProRule:PRU00204}.				central nervous system development (GO:0007417)|cytokine-mediated signaling pathway (GO:0019221)	integral component of membrane (GO:0016021)	interleukin-1 receptor activity (GO:0004908)|interleukin-1, Type II, blocking receptor activity (GO:0004910)			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(23)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						AAACACTATGGATATAAACTC	0.368																																						ENST00000372582.1																			0				breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(23)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						c.(1318-1320)gGa>gTa		interleukin 1 receptor accessory protein-like 2							114	107	110					X																	104999297		2203	4300	6503	SO:0001583	missense	26280				central nervous system development|innate immune response	integral to membrane	interleukin-1, Type II, blocking receptor activity	g.chrX:104999297G>T	AF181285	CCDS14517.1	Xq22	2013-01-11			ENSG00000189108	ENSG00000189108		"Interleukins and interleukin receptors", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5997	protein-coding gene	gene with protein product		300277				10757639	Standard	NM_017416		Approved	IL-1R9, TIGIRR-1, IL1RAPL-2, IL1R9	uc004elz.1	Q9NP60	OTTHUMG00000022141	ENST00000372582.1:c.1319G>T	X.37:g.104999297G>T	ENSP00000361663:p.Gly440Val					IL1RAPL2_ENST00000344799.4_Missense_Mutation_p.G440V|IL1RAPL2_ENST00000485671.1_3'UTR|IL1RAPL2_ENST00000538500.1_Missense_Mutation_p.G45V	p.G440V	NM_017416.1	NP_059112.1	Q9NP60	IRPL2_HUMAN			10	2075	+			440			TIR.		Q2M3U3|Q9NZN0	Missense_Mutation	SNP	ENST00000372582.1	37	c.1319G>T	CCDS14517.1	.	.	.	.	.	.	.	.	.	.	G	19.94	3.919564	0.73098	.	.	ENSG00000189108	ENST00000372582;ENST00000344799;ENST00000538500	T;T;T	0.04406	3.63;3.63;3.63	5.62	5.62	0.85841	Toll/interleukin-1 receptor homology (TIR) domain (4);	0.000000	0.64402	D	0.000007	T	0.30355	0.0762	M	0.91354	3.2	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.26087	-1.0113	10	0.87932	D	0	.	17.5212	0.87787	0.0:0.0:1.0:0.0	.	440	Q9NP60	IRPL2_HUMAN	V	440;440;45	ENSP00000361663:G440V;ENSP00000344976:G440V;ENSP00000445576:G45V	ENSP00000344976:G440V	G	+	2	0	IL1RAPL2	104885953	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.476000	0.97823	2.353000	0.79882	0.600000	0.82982	GGA		0.368	IL1RAPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057785.1	NM_017416		33	40	1	0	1.36161e-19	1	1.47701e-19	33	40					T	104999297	G	T	104999297	3	4	153	1	0	0	0	0	1	0	0	0	7662	1174	41	5	1353	5	IL1RAPL2	23	104999297	Missense_Mutation	SNP	G	TCGA-G9-6339-01A-12D-A30X-08		104999297	50271263	50	7507											
PRKAA2	5563	broad.mit.edu	37	chr1	57161759	57161759	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atatcccagaatatctcaatCgttctgtcgccactctcctg	9	13	5	14	2	3	1	1	0	3	1	8	1	4	1	3	0	0	1	3	0	4	3	rs141766544		TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr1:57161759C>T	ENST00000371244.4	+	6	781	c.715C>T	c.(715-717)Cgt>Tgt	p.R239C		NM_006252.3	NP_006243.2	P54646	AAPK2_HUMAN	protein kinase, AMP-activated, alpha 2 catalytic subunit	239	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				autophagy (GO:0006914)|carnitine shuttle (GO:0006853)|cell cycle arrest (GO:0007050)|cellular lipid metabolic process (GO:0044255)|cellular response to glucose starvation (GO:0042149)|cellular response to nutrient levels (GO:0031669)|cholesterol biosynthetic process (GO:0006695)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|fatty acid homeostasis (GO:0055089)|glucose homeostasis (GO:0042593)|insulin receptor signaling pathway (GO:0008286)|lipid biosynthetic process (GO:0008610)|membrane organization (GO:0061024)|negative regulation of apoptotic process (GO:0043066)|negative regulation of TOR signaling (GO:0032007)|positive regulation of autophagy (GO:0010508)|positive regulation of glycolytic process (GO:0045821)|protein phosphorylation (GO:0006468)|regulation of circadian rhythm (GO:0042752)|regulation of energy homeostasis (GO:2000505)|regulation of fatty acid biosynthetic process (GO:0042304)|regulation of transcription, DNA-templated (GO:0006355)|response to stress (GO:0006950)|rhythmic process (GO:0048511)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	[acetyl-CoA carboxylase] kinase activity (GO:0050405)|[hydroxymethylglutaryl-CoA reductase (NADPH)] kinase activity (GO:0047322)|AMP-activated protein kinase activity (GO:0004679)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|histone serine kinase activity (GO:0035174)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)	p.R239C(1)		breast(6)|endometrium(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|stomach(1)	23					Acetylsalicylic acid(DB00945)	ATATCTCAATCGTTCTGTCGC	0.428																																						ENST00000371244.4																			1	Substitution - Missense(1)	p.R239C(1)	skin(1)	breast(6)|endometrium(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|stomach(1)	23						c.(715-717)Cgt>Tgt		protein kinase, AMP-activated, alpha 2 catalytic subunit							248	248	248					1																	57161759		2203	4300	6503	SO:0001583	missense	5563				carnitine shuttle|cell cycle arrest|cholesterol biosynthetic process|energy reserve metabolic process|fatty acid biosynthetic process|insulin receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation	cytosol|nucleoplasm	ATP binding|metal ion binding	g.chr1:57161759C>T	BC069823	CCDS605.1	1p31	2011-08-25			ENSG00000162409	ENSG00000162409			9377	protein-coding gene	gene with protein product		600497		PRKAA		7959015	Standard	NM_006252		Approved	AMPK, AMPKa2	uc001cyk.4	P54646	OTTHUMG00000008282	ENST00000371244.4:c.715C>T	1.37:g.57161759C>T	ENSP00000360290:p.Arg239Cys						p.R239C	NM_006252.3	NP_006243.2	P54646	AAPK2_HUMAN			6	781	+			239			Protein kinase.		Q9H1E8|Q9UD43	Missense_Mutation	SNP	ENST00000371244.4	37	c.715C>T	CCDS605.1	.	.	.	.	.	.	.	.	.	.	C	35	5.494034	0.96339	.	.	ENSG00000162409	ENST00000371244	T	0.66815	-0.23	5.98	5.98	0.97165	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.72407	0.3456	L	0.35288	1.05	0.80722	D	1	D	0.76494	0.999	P	0.57009	0.811	T	0.73760	-0.3881	10	0.72032	D	0.01	-20.4177	20.4434	0.99119	0.0:1.0:0.0:0.0	.	239	P54646	AAPK2_HUMAN	C	239	ENSP00000360290:R239C	ENSP00000360290:R239C	R	+	1	0	PRKAA2	56934347	1.000000	0.71417	0.997000	0.53966	0.993000	0.82548	7.487000	0.81328	2.838000	0.97847	0.655000	0.94253	CGT		0.428	PRKAA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022753.2	NM_006252		10	337	0	0	0	0.000978159	0	10	337					T	57161759	C	T	57161759	3	4	154	1	0	0	0	0	1	0	0	0	12494	884	31	2	737	2	PRKAA2	1	57161759	Missense_Mutation	SNP	C	TCGA-G9-6342-01A-11D-1961-08		57161759	192088862	1	7508											
ASTN1	460	broad.mit.edu	37	chr1	176913135	176913135	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tggcagttgctggtctaaacCacgagcaaagttgttttgcc	9	12	11	9	1	1	0	0	0	1	0	1	1	1	0	2	2	4	6	2	2	3	5			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr1:176913135C>T	ENST00000367654.3	-	14	2504	c.2293G>A	c.(2293-2295)Ggt>Agt	p.G765S	ASTN1_ENST00000281881.3_5'UTR|ASTN1_ENST00000424564.2_Missense_Mutation_p.G757S|ASTN1_ENST00000367657.3_Missense_Mutation_p.G757S|ASTN1_ENST00000361833.2_Missense_Mutation_p.G757S	NM_004319.1	NP_004310.1	O14525	ASTN1_HUMAN	astrotactin 1	765					locomotory behavior (GO:0007626)|neuron cell-cell adhesion (GO:0007158)|neuron migration (GO:0001764)	endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						TGGTCTAAACCACGAGCAAAG	0.483																																						ENST00000367654.2																			0				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						c.(2293-2295)Ggt>Agt		astrotactin 1							120	113	115					1																	176913135		2203	4300	6503	SO:0001583	missense	460				cell migration|neuron cell-cell adhesion	integral to membrane		g.chr1:176913135C>T	AB006627	CCDS1319.1, CCDS44280.1, CCDS65732.1	1q25.2	2008-02-05	2006-08-24	2006-08-24	ENSG00000152092	ENSG00000152092			773	protein-coding gene	gene with protein product		600904	"astrotactin"	ASTN		9070947	Standard	NM_001286164		Approved		uc001glc.3	O14525	OTTHUMG00000035041	ENST00000367654.3:c.2293G>A	1.37:g.176913135C>T	ENSP00000356626:p.Gly765Ser					ASTN1_ENST00000424564.2_Missense_Mutation_p.G757S|ASTN1_ENST00000367657.3_Missense_Mutation_p.G757S|ASTN1_ENST00000361833.2_Missense_Mutation_p.G757S|ASTN1_ENST00000281881.3_5'UTR	p.G765S			O14525	ASTN1_HUMAN			14	2306	-			765					A5PL12|B4DHI9|E9PFR8|O60799|Q5W0V7|Q5W0V8	Missense_Mutation	SNP	ENST00000367654.3	37	c.2293G>A		.	.	.	.	.	.	.	.	.	.	C	32	5.136306	0.94517	.	.	ENSG00000152092	ENST00000367657;ENST00000361833;ENST00000367654;ENST00000424564;ENST00000541808	T;T;T;T	0.15718	2.4;2.82;2.82;2.41	5.48	5.48	0.80851	.	0.000000	0.85682	D	0.000000	T	0.27866	0.0686	N	0.19112	0.55	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.996;0.996	T	0.06162	-1.0842	10	0.19590	T	0.45	-20.1378	18.966	0.92697	0.0:1.0:0.0:0.0	.	765;757;757	O14525;O14525-2;B1AJS1	ASTN1_HUMAN;.;.	S	757;757;765;757;757	ENSP00000356629:G757S;ENSP00000354536:G757S;ENSP00000356626:G765S;ENSP00000395041:G757S	ENSP00000354536:G757S	G	-	1	0	ASTN1	175179758	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.837000	0.75354	2.576000	0.86940	0.655000	0.94253	GGT		0.483	ASTN1-201	KNOWN	basic	protein_coding	protein_coding		NM_004319		17	59	0	0	0	0.00152264	0	17	59					T	176913135	C	T	176913135	3	4	154	1	0	0	0	0	1	0	0	0	1064	594	21	3	1659	3	ASTN1	1	176913135	Missense_Mutation	SNP	C	TCGA-G9-6342-01A-11D-1961-08	119751376	176913135	72337486	2	7509											
HMCN1	83872	broad.mit.edu	37	chr1	185931777	185931777	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	accgttaacgatatgtttatCgtgggttcacacaggtactg	10	13	10	8	3	1	0	1	0	0	0	2	1	1	0	1	2	2	4	1	2	4	6			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr1:185931777C>T	ENST00000271588.4	+	12	2185	c.1956C>T	c.(1954-1956)atC>atT	p.I652I	HMCN1_ENST00000485744.1_3'UTR|HMCN1_ENST00000367492.2_Silent_p.I652I	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	652	Ig-like C2-type 3.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						ATATGTTTATCGTGGGTTCAC	0.408																																						ENST00000271588.4																			0				NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						c.(1954-1956)atC>atT		hemicentin 1							190	177	182					1																	185931777		2203	4300	6503	SO:0001819	synonymous_variant	83872				response to stimulus|visual perception	basement membrane	calcium ion binding	g.chr1:185931777C>T	AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"Fibulins", "Immunoglobulin superfamily / I-set domain containing"	19194	protein-coding gene	gene with protein product	"fibulin 6"	608548	"age-related macular degeneration 1 (senile macular degeneration)"	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.1956C>T	1.37:g.185931777C>T						HMCN1_ENST00000485744.1_3'UTR|HMCN1_ENST00000367492.2_Silent_p.I652I	p.I652I	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN			12	2185	+			652			Ig-like C2-type 3.		A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Silent	SNP	ENST00000271588.4	37	c.1956C>T	CCDS30956.1																																																																																				0.408	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935		21	95	0	0	0	0.00188189	0	21	95					T	185931777	C	T	185931777	2	4	154	1	0	0	0	0	0	0	0	1	7220	874	31	2		2	HMCN1	1	185931777	Silent	SNP	C	TCGA-G9-6342-01A-11D-1961-08	9018642	185931777	63318844	3	7510											
KCNT2	343450	broad.mit.edu	37	chr1	196254844	196254844	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accctcccagcagcaaaaggCagtcgaaacataaaggccaa	17	3	8	13	1	0	0	0	0	0	0	2	1	1	0	3	2	3	3	3	2	6	1			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr1:196254844C>T	ENST00000294725.9	-	23	3555	c.2640G>A	c.(2638-2640)ctG>ctA	p.L880L	KCNT2_ENST00000451324.2_3'UTR|KCNT2_ENST00000367433.5_Silent_p.L856L|KCNT2_ENST00000498426.1_5'UTR|KCNT2_ENST00000367431.4_Silent_p.L806L|KCNT2_ENST00000609185.1_Silent_p.L806L			Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	880					potassium ion transmembrane transport (GO:0071805)	voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|calcium-activated potassium channel activity (GO:0015269)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						CAGCAAAAGGCAGTCGAAACA	0.373																																						ENST00000367433.5																			0				NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						c.(2566-2568)ctG>ctA		potassium channel, subfamily T, member 2							85	83	83					1																	196254844		2203	4300	6503	SO:0001819	synonymous_variant	343450					voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity	g.chr1:196254844C>T	BX647852, AY359444, AK127807	CCDS1384.1, CCDS72994.1, CCDS72995.1	1q31.3	2012-07-05			ENSG00000162687	ENSG00000162687		"Potassium channels", "Voltage-gated ion channels / Potassium channels, calcium-activated"	18866	protein-coding gene	gene with protein product	"sodium and chloride activated ATP sensitive potassium channel"	610044				16382103	Standard	NM_198503		Approved	KCa4.2, SLICK, SLO2.1	uc001gtd.1	Q6UVM3	OTTHUMG00000035611	ENST00000294725.9:c.2640G>A	1.37:g.196254844C>T						KCNT2_ENST00000498426.1_5'UTR|KCNT2_ENST00000294725.8_Silent_p.L880L|KCNT2_ENST00000367431.4_Silent_p.L806L|KCNT2_ENST00000451324.2_3'UTR	p.L856L			Q6UVM3	KCNT2_HUMAN			22	2669	-			880					Q3SY59|Q5VTN1|Q6ZMT3	Silent	SNP	ENST00000294725.9	37	c.2568G>A	CCDS1384.1																																																																																				0.373	KCNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086418.2	NM_198503		15	44	0	0	0	0.000308642	0	15	44					T	196254844	C	T	196254844	2	4	154	1	0	0	0	0	0	0	0	1	8092	697	25	3		3	KCNT2	1	196254844	Silent	SNP	C	TCGA-G9-6342-01A-11D-1961-08	10323067	196254844	52995777	4	7511											
DSTYK	25778	broad.mit.edu	37	chr1	205132935	205132935	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	catcgttccagggttccgacGaagctttccctcaggtaatc	8	11	9	13	3	1	0	1	0	0	0	6	2	4	0	3	2	1	4	3	2	2	4			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr1:205132935G>A	ENST00000367162.3	-	4	1503	c.1473C>T	c.(1471-1473)ttC>ttT	p.F491F	DSTYK_ENST00000367160.4_Intron|DSTYK_ENST00000367161.3_Silent_p.F491F	NM_015375.2	NP_056190.1	Q6XUX3	DUSTY_HUMAN	dual serine/threonine and tyrosine protein kinase	491					cellular response to fibroblast growth factor stimulus (GO:0044344)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast growth factor receptor signaling pathway (GO:0045743)|positive regulation of kinase activity (GO:0033674)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)			breast(2)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(2)	14						GGGTTCCGACGAAGCTTTCCC	0.473																																						ENST00000367162.3																			0				breast(2)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(2)	14						c.(1471-1473)ttC>ttT		dual serine/threonine and tyrosine protein kinase							135	115	122					1																	205132935		2203	4300	6503	SO:0001819	synonymous_variant	25778					cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr1:205132935G>A	AF068286	CCDS1451.1, CCDS1452.1	1q32	2008-12-18	2008-12-18	2008-12-18	ENSG00000133059	ENSG00000133059			29043	protein-coding gene	gene with protein product		612666	"receptor interacting protein kinase 5"	RIPK5		15178406	Standard	NM_015375		Approved	KIAA0472, DustyPK, RIP5	uc001hbw.3	Q6XUX3	OTTHUMG00000037102	ENST00000367162.3:c.1473C>T	1.37:g.205132935G>A						DSTYK_ENST00000367161.3_Silent_p.F491F|DSTYK_ENST00000367160.4_Intron	p.F491F	NM_015375.2	NP_056190.1	Q6XUX3	DUSTY_HUMAN			4	1503	-			491					B7ZL64|O75060|Q17R94|Q5RKT0|Q6IN87|Q6P997|Q86Y03|Q9P1S5	Silent	SNP	ENST00000367162.3	37	c.1473C>T	CCDS1451.1																																																																																				0.473	DSTYK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090345.1	NM_015375		12	52	0	0	0	0.000978159	0	12	52					A	205132935	G	A	205132935	2	1	154	1	0	0	0	0	0	0	0	1	4785	1049	37	2		2	DSTYK	1	205132935	Silent	SNP	G	TCGA-G9-6342-01A-11D-1961-08	8878091	205132935	44117686	5	7512											
ERO1LB	56605	broad.mit.edu	37	chr1	236445067	236445067	+	Frame_Shift_Del	DEL	C	C	-																															cctgcccagcgcctgcccggCggaccccttggctcatgctg																										TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr1:236445067delC	ENST00000354619.5	-	1	218	c.17delG	c.(16-18)cgcfs	p.R7fs	ERO1LB_ENST00000327333.8_Frame_Shift_Del_p.R7fs	NM_019891.3	NP_063944.3	Q86YB8	ERO1B_HUMAN	ERO1-like beta (S. cerevisiae)	7					4-hydroxyproline metabolic process (GO:0019471)|cell redox homeostasis (GO:0045454)|extracellular matrix organization (GO:0030198)|glucose homeostasis (GO:0042593)|insulin processing (GO:0030070)|protein folding (GO:0006457)|protein maturation by protein folding (GO:0022417)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)	oxidoreductase activity (GO:0016491)|oxidoreductase activity, acting on a sulfur group of donors, disulfide as acceptor (GO:0016671)|protein disulfide isomerase activity (GO:0003756)|protein disulfide oxidoreductase activity (GO:0015035)|unfolded protein binding (GO:0051082)			NS(1)|endometrium(3)|large_intestine(8)|lung(8)|skin(2)|urinary_tract(1)	23	Ovarian(103;0.0634)|Breast(184;0.247)	all_cancers(173;0.123)|Acute lymphoblastic leukemia(190;0.205)|Prostate(94;0.219)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		Flavin adenine dinucleotide(DB03147)	GCCTGCCCGGCGGACCCCTTG	0.736																																						ENST00000354619.5																			0				NS(1)|endometrium(3)|large_intestine(8)|lung(8)|skin(2)|urinary_tract(1)	23						c.(16-18)ccfs		ERO1-like beta (S. cerevisiae)							6	7	7					1																	236445067		2077	4074	6151	SO:0001589	frameshift_variant	56605				electron transport chain|protein thiol-disulfide exchange|transport	endoplasmic reticulum membrane	flavin adenine dinucleotide binding|oxidoreductase activity, acting on a sulfur group of donors, disulfide as acceptor|unfolded protein binding	g.chr1:236445067delC	AF252538	CCDS31064.1	1q42.2-q43	2008-02-05			ENSG00000086619	ENSG00000086619			14355	protein-coding gene	gene with protein product		615437				10818100	Standard	NM_019891		Approved	ERO1-L(beta)	uc001hxt.3	Q86YB8	OTTHUMG00000039955	ENST00000354619.5:c.17delG	1.37:g.236445067delC	ENSP00000346635:p.Arg7fs					ERO1LB_ENST00000327333.8_Frame_Shift_Del_p.R7fs	p.R7fs	NM_019891.3	NP_063944.3	Q86YB8	ERO1B_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		1	218	-	Ovarian(103;0.0634)|Breast(184;0.247)	all_cancers(173;0.123)|Acute lymphoblastic leukemia(190;0.205)|Prostate(94;0.219)	7					B4DF57|Q5T1H4|Q8IZ11|Q9NR62	Frame_Shift_Del	DEL	ENST00000354619.5	37	c.17delG	CCDS31064.1																																																																																				0.736	ERO1LB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096371.1	NM_019891		2	4						2	4	---	---	---	---	-	236445067	C	-	236445067	7	5	154	1	0	1	0	1	0	0	0	0	5240	768	27	0	1450	0	ERO1LB	1	236445067	Frame_Shift_Del	DEL	C	TCGA-G9-6342-01A-11D-1961-08	31312132	236445067	12805554	6	7513											
BAZ2B	29994	broad.mit.edu	37	chr2	160193505	160193505	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atttctgtaattgctgaatgCacagagctacctgtgcagca	11	12	9	9	0	1	2	0	1	1	1	1	2	1	2	1	0	6	6	1	0	3	4			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr2:160193505C>T	ENST00000392783.2	-	33	6239	c.5744G>A	c.(5743-5745)tGc>tAc	p.C1915Y	BAZ2B_ENST00000355831.2_Missense_Mutation_p.C1881Y|BAZ2B_ENST00000343439.5_Missense_Mutation_p.C1815Y|BAZ2B_ENST00000392782.1_Missense_Mutation_p.C1879Y	NM_013450.2	NP_038478.2	Q9UIF8	BAZ2B_HUMAN	bromodomain adjacent to zinc finger domain, 2B	1915					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	82						TTGCTGAATGCACAGAGCTAC	0.363																																						ENST00000392783.2																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	82						c.(5743-5745)tGc>tAc		bromodomain adjacent to zinc finger domain, 2B							94	88	90					2																	160193505		1838	4088	5926	SO:0001583	missense	29994				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr2:160193505C>T	AB032255	CCDS2209.2, CCDS74594.1	2q24.2	2013-01-28			ENSG00000123636	ENSG00000123636		"Zinc fingers, PHD-type"	963	protein-coding gene	gene with protein product		605683				10662543	Standard	XM_005246488		Approved	WALp4	uc002uao.3	Q9UIF8	OTTHUMG00000132027	ENST00000392783.2:c.5744G>A	2.37:g.160193505C>T	ENSP00000376534:p.Cys1915Tyr					BAZ2B_ENST00000355831.2_Missense_Mutation_p.C1881Y|BAZ2B_ENST00000343439.5_Missense_Mutation_p.C1815Y|BAZ2B_ENST00000392782.1_Missense_Mutation_p.C1879Y	p.C1915Y	NM_013450.2	NP_038478.2	Q9UIF8	BAZ2B_HUMAN			33	6239	-			1915					D3DPA8|Q96EA1|Q96SQ8|Q9P252|Q9Y4N8	Missense_Mutation	SNP	ENST00000392783.2	37	c.5744G>A	CCDS2209.2	.	.	.	.	.	.	.	.	.	.	C	12.57	1.976440	0.34848	.	.	ENSG00000123636	ENST00000392782;ENST00000392783;ENST00000355831;ENST00000343439;ENST00000426648	T;T;T;T	0.60299	0.28;0.27;0.28;0.2	5.44	5.44	0.79542	.	0.000000	0.40728	U	0.001037	T	0.77705	0.4170	M	0.78049	2.395	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.76615	-0.2894	10	0.42905	T	0.14	-5.0936	19.6436	0.95767	0.0:1.0:0.0:0.0	.	1879;1915	Q9UIF8-5;Q9UIF8	.;BAZ2B_HUMAN	Y	1879;1915;1881;1815;168	ENSP00000376533:C1879Y;ENSP00000376534:C1915Y;ENSP00000348087:C1881Y;ENSP00000339670:C1815Y	ENSP00000339670:C1815Y	C	-	2	0	BAZ2B	159901751	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.776000	0.85560	2.712000	0.92718	0.650000	0.86243	TGC		0.363	BAZ2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255037.2			9	83	0	0	0	0.000274275	0	9	83					T	160193505	C	T	160193505	3	4	154	1	0	0	0	0	1	0	0	0	1332	710	25	3	782	3	BAZ2B	2	160193505	Missense_Mutation	SNP	C	TCGA-G9-6342-01A-11D-1961-08		160193505	83005868	7	7514											
HSPBAP1	79663	broad.mit.edu	37	chr3	122459555	122459555	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aagttctggctacctgtttgGcccacctccatgtggttgca	6	13	10	12	0	1	0	0	0	1	0	2	0	2	0	4	3	2	5	4	3	2	4			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr3:122459555G>A	ENST00000306103.2	-	8	1247	c.1104C>T	c.(1102-1104)ggC>ggT	p.G368G	HSPBAP1_ENST00000383659.1_3'UTR	NM_024610.5	NP_078886.2	Q96EW2	HBAP1_HUMAN	HSPB (heat shock 27kDa) associated protein 1	368						cytoplasm (GO:0005737)				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|urinary_tract(1)	16				GBM - Glioblastoma multiforme(114;0.0531)		TACCTGTTTGGCCCACCTCCA	0.502																																						ENST00000306103.2																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|urinary_tract(1)	16						c.(1102-1104)ggC>ggT		HSPB (heat shock 27kDa) associated protein 1							210	201	204					3																	122459555		2203	4300	6503	SO:0001819	synonymous_variant	79663					cytoplasm		g.chr3:122459555G>A	AF400663	CCDS3017.1	3q21.1	2008-07-18	2002-08-29		ENSG00000169087	ENSG00000169087			16389	protein-coding gene	gene with protein product		608263	"HSPB (heat shock 27kD) associated protein 1"			11978969	Standard	NM_024610		Approved	FLJ22623, PASS1	uc003efu.2	Q96EW2	OTTHUMG00000159550	ENST00000306103.2:c.1104C>T	3.37:g.122459555G>A						HSPBAP1_ENST00000383659.1_3'UTR	p.G368G	NM_024610.5	NP_078886.2	Q96EW2	HBAP1_HUMAN		GBM - Glioblastoma multiforme(114;0.0531)	8	1247	-			368					Q6P476|Q8N8J4|Q8NHH6|Q8WWF0	Silent	SNP	ENST00000306103.2	37	c.1104C>T	CCDS3017.1																																																																																				0.502	HSPBAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356161.1	NM_024610		29	296	0	0	0	0.00127121	0	29	296					A	122459555	G	A	122459555	2	1	154	1	0	0	0	0	0	0	0	1	7425	1190	42	3		3	HSPBAP1	3	122459555	Silent	SNP	G	TCGA-G9-6342-01A-11D-1961-08		122459555	75562875	8	7515											
KCNAB1	7881	broad.mit.edu	37	chr3	156234121	156234121	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tctcaggaaaatacggaaacGgggtgcctgaaagttccagg	13	7	13	8	2	1	1	1	1	1	0	3	3	2	3	2	5	3	1	2	5	5	2			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr3:156234121G>A	ENST00000490337.1	+	11	992	c.928G>A	c.(928-930)Ggg>Agg	p.G310R	KCNAB1_ENST00000389636.5_Missense_Mutation_p.G281R|KCNAB1_ENST00000302490.8_Missense_Mutation_p.G292R|KCNAB1_ENST00000471742.1_Missense_Mutation_p.G299R|KCNAB1_ENST00000497291.1_3'UTR|KCNAB1_ENST00000389634.5_Missense_Mutation_p.G263R	NM_172160.2	NP_751892.1	Q14722	KCAB1_HUMAN	potassium voltage-gated channel, shaker-related subfamily, beta member 1	310					learning or memory (GO:0007611)|potassium ion transport (GO:0006813)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	potassium channel regulator activity (GO:0015459)|voltage-gated potassium channel activity (GO:0005249)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	28			LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)			ATACGGAAACGGGGTGCCTGA	0.448																																						ENST00000302490.8																			0				breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	28						c.(874-876)Ggg>Agg		potassium voltage-gated channel, shaker-related subfamily, beta member 1							96	97	96					3																	156234121		2203	4300	6503	SO:0001583	missense	7881					cytoplasm|integral to membrane	oxidoreductase activity|potassium channel regulator activity|voltage-gated potassium channel activity	g.chr3:156234121G>A	U33428	CCDS3174.1, CCDS3175.1, CCDS33882.1	3q26.1	2006-11-29			ENSG00000169282	ENSG00000169282		"Potassium channels", "Aldo-keto reductases"	6228	protein-coding gene	gene with protein product		601141				8838324, 7499366	Standard	NM_172160		Approved	AKR6A3, KCNA1B, hKvBeta3, Kvb1.3, hKvb3	uc003far.2	Q14722	OTTHUMG00000158552	ENST00000490337.1:c.928G>A	3.37:g.156234121G>A	ENSP00000419952:p.Gly310Arg					KCNAB1_ENST00000490337.1_Missense_Mutation_p.G310R|KCNAB1_ENST00000471742.1_Missense_Mutation_p.G299R|KCNAB1_ENST00000497291.1_3'UTR|KCNAB1_ENST00000389634.5_Missense_Mutation_p.G263R|KCNAB1_ENST00000389636.5_Missense_Mutation_p.G281R	p.G292R	NM_172159.3	NP_751891.1	Q14722	KCAB1_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)		11	1745	+			310					A8K9H8|A8KAD4|B3KPZ4|Q13031|Q13302|Q16547|Q6PI60|Q99869	Missense_Mutation	SNP	ENST00000490337.1	37	c.874G>A	CCDS3174.1	.	.	.	.	.	.	.	.	.	.	G	17.52	3.409753	0.62399	.	.	ENSG00000169282	ENST00000490337;ENST00000389636;ENST00000471742;ENST00000302490;ENST00000389634	T;T;T;T;T	0.47177	0.85;0.85;0.85;0.85;0.85	4.77	4.77	0.60923	NADP-dependent oxidoreductase domain (3);	0.000000	0.85682	D	0.000000	T	0.44286	0.1286	L	0.45228	1.405	0.80722	D	1	B;B;B;B;B	0.18863	0.024;0.019;0.031;0.025;0.031	B;B;B;B;B	0.24269	0.052;0.03;0.011;0.007;0.011	T	0.37596	-0.9699	10	0.46703	T	0.11	-10.7145	16.9559	0.86259	0.0:0.0:1.0:0.0	.	281;263;292;299;310	B7Z8E5;F8W6W4;B3KPZ4;Q14722-3;Q14722	.;.;.;.;KCAB1_HUMAN	R	310;281;299;292;263	ENSP00000419952:G310R;ENSP00000374287:G281R;ENSP00000418956:G299R;ENSP00000305858:G292R;ENSP00000374285:G263R	ENSP00000305858:G292R	G	+	1	0	KCNAB1	157716815	1.000000	0.71417	0.994000	0.49952	0.981000	0.71138	9.392000	0.97252	2.364000	0.80123	0.561000	0.74099	GGG		0.448	KCNAB1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000351411.1	NM_003471		5	96	0	0	0	0.00116845	0	5	96					A	156234121	G	A	156234121	3	1	154	1	0	0	0	0	1	0	0	0	8009	1116	39	2	1441	2	KCNAB1	3	156234121	Missense_Mutation	SNP	G	TCGA-G9-6342-01A-11D-1961-08	33774566	156234121	41788309	9	7516											
PAK2	5062	broad.mit.edu	37	chr3	196509570	196509570	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccagcacctcctgtgcgaaTgagcagcaccatctttagca	10	9	8	14	1	1	1	0	1	1	0	3	2	3	1	4	0	5	4	4	0	2	2			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr3:196509570T>A	ENST00000327134.3	+	2	375	c.53T>A	c.(52-54)aTg>aAg	p.M18K	RNU6-42P_ENST00000384165.1_RNA	NM_002577.4	NP_002568.2	Q13177	PAK2_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 2	18					apoptotic process (GO:0006915)|axon guidance (GO:0007411)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in execution phase of apoptosis (GO:2001271)|negative regulation of protein kinase activity (GO:0006469)|peptidyl-serine phosphorylation (GO:0018105)|phosphorylation (GO:0016310)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein tyrosine kinase activity (GO:0061098)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of apoptotic process (GO:0042981)|regulation of defense response to virus by virus (GO:0050690)|regulation of growth (GO:0040008)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activator activity (GO:0030296)			breast(1)|cervix(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)	12	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;1.07e-23)|all cancers(36;6.38e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.5e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00405)		CCTGTGCGAATGAGCAGCACC	0.443																																						ENST00000327134.3																			0				breast(1)|cervix(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)	12						c.(52-54)aTg>aAg		p21 protein (Cdc42/Rac)-activated kinase 2							120	125	124					3																	196509570		2203	4300	6503	SO:0001583	missense	5062				axon guidance|cellular component disassembly involved in apoptosis|interspecies interaction between organisms|negative regulation of protein kinase activity|peptidyl-serine phosphorylation|positive regulation of peptidyl-tyrosine phosphorylation|protein autophosphorylation|regulation of apoptosis|regulation of defense response to virus by virus|regulation of growth|T cell costimulation|T cell receptor signaling pathway|viral reproduction	cytosol|nucleus|perinuclear region of cytoplasm|plasma membrane	ATP binding|identical protein binding|protein kinase binding|protein serine/threonine kinase activity|protein tyrosine kinase activator activity	g.chr3:196509570T>A	U24153	CCDS3321.1	3q29	2008-06-17	2008-06-17			ENSG00000180370	2.7.11.1		8591	protein-coding gene	gene with protein product	"S6/H4 kinase"	605022	"p21 (CDKN1A)-activated kinase 2"			7744004, 7618083	Standard	NM_002577		Approved	PAK65, PAKgamma	uc003fwy.4	Q13177		ENST00000327134.3:c.53T>A	3.37:g.196509570T>A	ENSP00000314067:p.Met18Lys						p.M18K	NM_002577.4	NP_002568.2	Q13177	PAK2_HUMAN	Epithelial(36;1.07e-23)|all cancers(36;6.38e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.5e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00405)	2	375	+	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135)		18					Q13154|Q6ISC3	Missense_Mutation	SNP	ENST00000327134.3	37	c.53T>A	CCDS3321.1	.	.	.	.	.	.	.	.	.	.	T	15.38	2.817561	0.50633	.	.	ENSG00000180370	ENST00000327134	T	0.68025	-0.3	5.21	5.21	0.72293	.	0.081660	0.85682	D	0.000000	T	0.59128	0.2171	L	0.44542	1.39	0.80722	D	1	B	0.22683	0.073	B	0.20184	0.028	T	0.55276	-0.8166	10	0.28530	T	0.3	.	15.084	0.72135	0.0:0.0:0.0:1.0	.	18	Q13177	PAK2_HUMAN	K	18	ENSP00000314067:M18K	ENSP00000314067:M18K	M	+	2	0	PAK2	197993967	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.527000	0.60573	1.988000	0.58038	0.533000	0.62120	ATG		0.443	PAK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340548.1	NM_002577		10	216	0	0	0	0.000978159	0	10	216					A	196509570	T	A	196509570	3	1	154	1	0	0	0	0	1	0	0	0	11401	1464	51	5	55	5	PAK2	3	196509570	Missense_Mutation	SNP	T	TCGA-G9-6342-01A-11D-1961-08	40275449	196509570	1512860	10	7517											
ZNF518B	85460	broad.mit.edu	37	chr4	10445720	10445720	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gccatctgcaaagtgtggatAtatttgttgatgagtaagct	11	14	11	5	0	1	2	0	2	1	0	1	3	1	3	1	1	2	4	1	1	4	5			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr4:10445720A>G	ENST00000326756.3	-	3	2671	c.2233T>C	c.(2233-2235)Tat>Cat	p.Y745H		NM_053042.2	NP_444270.2	Q9C0D4	Z518B_HUMAN	zinc finger protein 518B	745					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	42						AAGTGTGGATATATTTGTTGA	0.468																																						ENST00000326756.3																			0				breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	42						c.(2233-2235)Tat>Cat		zinc finger protein 518B							135	135	135					4																	10445720		2203	4300	6503	SO:0001583	missense	85460				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr4:10445720A>G	AB051516	CCDS33960.1	4p16.1	2007-12-07				ENSG00000178163		"Zinc fingers, C2H2-type"	29365	protein-coding gene	gene with protein product						11214970	Standard	XM_005248193		Approved	KIAA1729	uc003gmn.3	Q9C0D4		ENST00000326756.3:c.2233T>C	4.37:g.10445720A>G	ENSP00000317614:p.Tyr745His						p.Y745H	NM_053042.2	NP_444270.2	Q9C0D4	Z518B_HUMAN			3	2671	-			745					Q96LN8	Missense_Mutation	SNP	ENST00000326756.3	37	c.2233T>C	CCDS33960.1	.	.	.	.	.	.	.	.	.	.	A	13.75	2.329747	0.41297	.	.	ENSG00000178163	ENST00000326756	T	0.01538	4.79	6.02	0.561	0.17285	.	0.968666	0.08477	N	0.940030	T	0.01421	0.0046	L	0.29908	0.895	0.09310	N	1	P	0.46395	0.877	B	0.41723	0.365	T	0.41413	-0.9510	10	0.17832	T	0.49	-5.9707	1.3504	0.02171	0.5063:0.1452:0.208:0.1406	.	745	Q9C0D4	Z518B_HUMAN	H	745	ENSP00000317614:Y745H	ENSP00000317614:Y745H	Y	-	1	0	ZNF518B	10054818	0.000000	0.05858	0.002000	0.10522	0.003000	0.03518	0.372000	0.20467	0.496000	0.27904	-0.256000	0.11100	TAT		0.468	ZNF518B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359040.1	NM_053042		27	112	0	0	0	0.000720815	0	27	112					G	10445720	A	G	10445720	3	3	154	1	0	0	0	0	1	0	0	0	17960	449	16	4	995	4	ZNF518B	4	10445720	Missense_Mutation	SNP	A	TCGA-G9-6342-01A-11D-1961-08		10445720	180708556	11	7518											
UGT2B15	7367	broad.mit.edu	37	chr4	69416515	69416515	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caatgttatcatgttgatccGcaaacaagggaatgcccacc	13	9	8	11	1	1	1	1	1	0	0	2	2	2	2	3	1	2	3	3	1	5	2	rs377204498		TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr4:69416515G>C	ENST00000317746.2	-	5	1235	c.1193C>G	c.(1192-1194)gCg>gGg	p.A398G		NM_001077.3	NP_001068.1	O75795	UDB17_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B17	398					cellular glucuronidation (GO:0052695)|steroid metabolic process (GO:0008202)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	glucuronosyltransferase activity (GO:0015020)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(14)|ovary(2)|prostate(1)	30					Losartan(DB00678)	ATGTTGATCCGCAAACAAGGG	0.463																																					Melanoma(18;649 833 28984 37818 38500)	ENST00000317746.2																			0				central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(14)|ovary(2)|prostate(1)	30						c.(1192-1194)gCg>gGg		UDP glucuronosyltransferase 2 family, polypeptide B17							122	96	105					4																	69416515		2102	3970	6072	SO:0001583	missense	7367				steroid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	g.chr4:69416515G>C	U59209	CCDS3523.1	4q13	2008-02-05	2005-07-20		ENSG00000197888	ENSG00000197888		"UDP glucuronosyltransferases"	12547	protein-coding gene	gene with protein product		601903	"UDP glycosyltransferase 2 family, polypeptide B17"			8798464	Standard	NM_001077		Approved		uc021xov.1	O75795	OTTHUMG00000129305	ENST00000317746.2:c.1193C>G	4.37:g.69416515G>C	ENSP00000320401:p.Ala398Gly						p.A398G	NM_001077.3	NP_001068.1	O75795	UDB17_HUMAN			5	1235	-			398						Missense_Mutation	SNP	ENST00000317746.2	37	c.1193C>G	CCDS3523.1	.	.	.	.	.	.	.	.	.	.	G	0.001	-3.286964	0.00020	.	.	ENSG00000197888	ENST00000317746	T	0.52754	0.65	2.7	-0.991	0.10235	.	0.163682	0.38436	U	0.001681	T	0.21307	0.0513	N	0.11698	0.16	0.09310	N	1	.	.	.	.	.	.	T	0.32745	-0.9895	8	0.02654	T	1	.	11.3198	0.49415	0.0:0.5198:0.4802:0.0	.	.	.	.	G	398	ENSP00000320401:A398G	ENSP00000320401:A398G	A	-	2	0	UGT2B17	69099110	0.000000	0.05858	0.108000	0.21378	0.078000	0.17371	-1.423000	0.02450	-0.100000	0.12241	0.393000	0.25936	GCG		0.463	UGT2B17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251436.1	NM_001077		56	62	0	0	0	0.000781405	0	56	62					C	69416515	G	C	69416515	3	2	154	1	0	0	0	0	1	0	0	0	16955	1087	38	5	407	5	UGT2B15	4	69416515	Missense_Mutation	SNP	G	TCGA-G9-6342-01A-11D-1961-08	58970795	69416515	121737761	12	7519											
ANK2	287	broad.mit.edu	37	chr4	114275162	114275162	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agagtcaaaggcaaggaggaCgtgccaaaaaagaccaccca	18	2	11	10	1	1	2	1	0	0	2	1	4	1	4	3	3	1	1	3	3	5	0	rs374140329		TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr4:114275162C>T	ENST00000357077.4	+	38	5441	c.5388C>T	c.(5386-5388)gaC>gaT	p.D1796D	ANK2_ENST00000264366.6_Silent_p.D1763D|ANK2_ENST00000394537.3_Intron|ANK2_ENST00000506722.1_Intron|ANK2_ENST00000510275.2_Intron|ANK2_ENST00000509550.1_Intron	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	1796					atrial cardiac muscle cell action potential (GO:0086014)|atrial cardiac muscle cell to AV node cell communication (GO:0086066)|atrial septum development (GO:0003283)|axon guidance (GO:0007411)|cardiac muscle contraction (GO:0060048)|cellular calcium ion homeostasis (GO:0006874)|cellular protein localization (GO:0034613)|membrane depolarization during SA node cell action potential (GO:0086046)|paranodal junction assembly (GO:0030913)|positive regulation of calcium ion transmembrane transporter activity (GO:1901021)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cation channel activity (GO:2001259)|positive regulation of gene expression (GO:0010628)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein localization to cell surface (GO:0034394)|protein localization to endoplasmic reticulum (GO:0070972)|protein localization to M-band (GO:0036309)|protein localization to organelle (GO:0033365)|protein localization to plasma membrane (GO:0072659)|protein localization to T-tubule (GO:0036371)|protein stabilization (GO:0050821)|protein targeting to plasma membrane (GO:0072661)|regulation of calcium ion transmembrane transporter activity (GO:1901019)|regulation of calcium ion transport (GO:0051924)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to methylmercury (GO:0051597)|SA node cell action potential (GO:0086015)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|T-tubule organization (GO:0033292)|ventricular cardiac muscle cell action potential (GO:0086005)	A band (GO:0031672)|basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intracellular (GO:0005622)|M band (GO:0031430)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|potassium channel regulator activity (GO:0015459)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		GCAAGGAGGACGTGCCAAAAA	0.517																																						ENST00000357077.4																			0				NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248						c.(5386-5388)gaC>gaT		ankyrin 2, neuronal		C	,,	0,4406		0,0,2203	109	120	117		,5388,	-5.6	0.8	4		117	1,8599	1.2+/-3.3	0,1,4299	no	intron,coding-synonymous,intron	ANK2	NM_001127493.1,NM_001148.4,NM_020977.3	,,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,,	,1796/3958,	114275162	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	287				axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding	g.chr4:114275162C>T	M37123	CCDS3702.1, CCDS43261.1, CCDS54796.1	4q25-q26	2014-09-17	2003-03-12		ENSG00000145362	ENSG00000145362		"Ankyrin repeat domain containing"	493	protein-coding gene	gene with protein product		106410	"long (electrocardiographic) QT syndrome 4"	LQT4		7485162, 12571597	Standard	NM_001148		Approved		uc003ibe.4	Q01484	OTTHUMG00000132912	ENST00000357077.4:c.5388C>T	4.37:g.114275162C>T						ANK2_ENST00000509550.1_Intron|ANK2_ENST00000394537.3_Intron|ANK2_ENST00000264366.6_Silent_p.D1763D|ANK2_ENST00000510275.2_Intron|ANK2_ENST00000506722.1_Intron	p.D1796D	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)	38	5441	+		Ovarian(17;0.0448)|Hepatocellular(203;0.218)	1763			Repeat-rich region.		Q01485|Q08AC7|Q08AC8|Q7Z3L5	Silent	SNP	ENST00000357077.4	37	c.5388C>T	CCDS3702.1																																																																																				0.517	ANK2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256422.2	NM_001148		22	130	0	0	0	0.00188189	0	22	130					T	114275162	C	T	114275162	2	4	154	1	0	0	0	0	0	0	0	1	621	535	19	1		1	ANK2	4	114275162	Silent	SNP	C	TCGA-G9-6342-01A-11D-1961-08	44858647	114275162	76879114	13	7520											
INTU	27152	broad.mit.edu	37	chr4	128626838	128626838	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctgctgcctttagcagcaaaAcaaagaattggtcagttgat	13	11	9	8	0	1	2	1	1	0	1	1	2	1	2	1	1	5	4	1	1	5	4			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr4:128626838A>G	ENST00000335251.6	+	11	1762	c.1659A>G	c.(1657-1659)aaA>aaG	p.K553K	INTU_ENST00000512995.1_3'UTR	NM_015693.3	NP_056508.2	Q9ULD6	INTU_HUMAN	inturned planar cell polarity protein	553					cilium assembly (GO:0042384)|hair follicle morphogenesis (GO:0031069)|keratinocyte differentiation (GO:0030216)|limb development (GO:0060173)|negative regulation of cell division (GO:0051782)|negative regulation of keratinocyte proliferation (GO:0010839)|nervous system development (GO:0007399)|positive regulation of smoothened signaling pathway (GO:0045880)|regulation of smoothened signaling pathway (GO:0008589)|spinal cord dorsal/ventral patterning (GO:0021513)	cytoplasm (GO:0005737)				breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	43						TAGCAGCAAAACAAAGAATTG	0.438																																						ENST00000335251.5																			0				breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	43						c.(1657-1659)aaA>aaG		inturned planar cell polarity protein							180	165	170					4																	128626838		2203	4300	6503	SO:0001819	synonymous_variant	27152							g.chr4:128626838A>G	BC051698	CCDS34061.1	4q28.2	2013-03-05	2013-03-05	2006-10-24	ENSG00000164066	ENSG00000164066			29239	protein-coding gene	gene with protein product		610621	"PDZ domain containing 6", "inturned planar cell polarity effector homolog (Drosophila)"	PDZK6, PDZD6		10574462, 21761479	Standard	NM_015693		Approved	KIAA1284	uc003ifk.2	Q9ULD6	OTTHUMG00000161202	ENST00000335251.6:c.1659A>G	4.37:g.128626838A>G						INTU_ENST00000512995.1_3'UTR	p.K553K	NM_015693.3	NP_056508.2	Q9ULD6	PDZD6_HUMAN			11	1762	+			553					A1L4N5|D6RAE6|D6RBT4|Q4W5I8|Q86V55	Silent	SNP	ENST00000335251.6	37	c.1659A>G	CCDS34061.1																																																																																				0.438	INTU-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364147.2	XM_371707		25	127	0	0	0	0.00278032	0	25	127					G	128626838	A	G	128626838	2	3	154	1	0	0	0	0	0	0	0	1	7786	40	2	4		4	INTU	4	128626838	Silent	SNP	A	TCGA-G9-6342-01A-11D-1961-08	14351676	128626838	62527438	14	7521											
C9	735	broad.mit.edu	37	chr5	39311238	39311238	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gagctctatttctaggcataCctttccgcttcatggaagct	8	14	8	11	1	3	0	1	0	2	0	4	2	4	1	2	2	3	4	2	2	4	6	rs544567518		TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr5:39311238C>T	ENST00000263408.4	-	7	1207		c.e7+1			NM_001737.3	NP_001728.1	P02748	CO9_HUMAN	complement component 9						complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|hemolysis by symbiont of host erythrocytes (GO:0019836)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane attack complex (GO:0005579)|plasma membrane (GO:0005886)				central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	32	all_lung(31;0.000197)	all_neural(839;7.57e-10)|Lung NSC(810;2.62e-08)|Ovarian(839;0.00384)|Breast(839;0.0184)|Myeloproliferative disorder(839;0.0511)	Epithelial(62;0.158)			TCTAGGCATACCTTTCCGCTT	0.368																																						ENST00000263408.4																			0				central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	32						c.e7+1		complement component 9							98	99	99					5																	39311238		2203	4299	6502	SO:0001630	splice_region_variant	735				complement activation, alternative pathway|complement activation, classical pathway|cytolysis|hemolysis by symbiont of host erythrocytes	extracellular region|membrane attack complex		g.chr5:39311238C>T		CCDS3929.1	5p14-p12	2014-09-17			ENSG00000113600	ENSG00000113600		"Complement system"	1358	protein-coding gene	gene with protein product		120940					Standard	NM_001737		Approved		uc003jlv.4	P02748	OTTHUMG00000094767	ENST00000263408.4:c.1111+1G>A	5.37:g.39311238C>T								NM_001737.3	NP_001728.1	P02748	CO9_HUMAN	Epithelial(62;0.158)		7	1207	-	all_lung(31;0.000197)	all_neural(839;7.57e-10)|Lung NSC(810;2.62e-08)|Ovarian(839;0.00384)|Breast(839;0.0184)|Myeloproliferative disorder(839;0.0511)							Splice_Site	SNP	ENST00000263408.4	37		CCDS3929.1	.	.	.	.	.	.	.	.	.	.	C	13.64	2.298714	0.40694	.	.	ENSG00000113600	ENST00000263408	.	.	.	5.76	5.76	0.90799	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.7592	0.88460	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	C9	39346995	1.000000	0.71417	0.978000	0.43139	0.111000	0.19643	6.243000	0.72384	2.721000	0.93114	0.655000	0.94253	.		0.368	C9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211576.3		Intron	17	45	0	0	0	0.000422831	0	17	45					T	39311238	C	T	39311238	5	4	154	1	0	0	0	0	0	0	1	0	2443	521	18	3	587	3	C9	5	39311238	Splice_Site	SNP	C	TCGA-G9-6342-01A-11D-1961-08		39311238	141604022	15	7522											
BAI3	577	broad.mit.edu	37	chr6	70049277	70049277	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccttctggctttgacgtggAtgtctgcggttctggccatg	3	14	13	11	2	3	1	0	1	3	0	3	2	3	2	2	4	1	2	2	4	0	3			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr6:70049277A>T	ENST00000370598.1	+	26	4161	c.3340A>T	c.(3340-3342)Atg>Ttg	p.M1114L	BAI3_ENST00000238918.8_Missense_Mutation_p.M320L|BAI3_ENST00000546190.1_Missense_Mutation_p.M78L	NM_001704.2	NP_001695	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	1114					G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				TTTGACGTGGATGTCTGCGGT	0.453																																						ENST00000370598.1																			0				NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210						c.(3340-3342)Atg>Ttg		brain-specific angiogenesis inhibitor 3							305	277	286					6																	70049277		2203	4300	6503	SO:0001583	missense	577				negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr6:70049277A>T	AB005299	CCDS4968.1	6q12	2014-08-08			ENSG00000135298	ENSG00000135298		"-", "GPCR / Class B : Orphans"	945	protein-coding gene	gene with protein product		602684				9533023	Standard	NM_001704		Approved	KIAA0550	uc003pev.4	O60242	OTTHUMG00000014982	ENST00000370598.1:c.3340A>T	6.37:g.70049277A>T	ENSP00000359630:p.Met1114Leu					BAI3_ENST00000238918.8_Missense_Mutation_p.M320L|BAI3_ENST00000546190.1_Missense_Mutation_p.M78L	p.M1114L	NM_001704.2	NP_001695.1	O60242	BAI3_HUMAN			26	4161	+		all_lung(197;0.212)	1114					B7Z1K0|O60297|Q2NKN6|Q5VY37|Q9BX54	Missense_Mutation	SNP	ENST00000370598.1	37	c.3340A>T	CCDS4968.1	.	.	.	.	.	.	.	.	.	.	A	17.08	3.298027	0.60086	.	.	ENSG00000135298	ENST00000370598;ENST00000238918;ENST00000546190	T;T;T	0.40756	1.51;1.51;1.02	5.74	5.74	0.90152	GPCR, family 2-like (1);	0.039120	0.85682	D	0.000000	T	0.33059	0.0850	N	0.15975	0.35	0.54753	D	0.999983	P;P;B	0.40032	0.699;0.699;0.003	P;P;B	0.58130	0.833;0.768;0.015	T	0.30621	-0.9972	10	0.25751	T	0.34	.	16.0356	0.80625	1.0:0.0:0.0:0.0	.	320;1114;1114	B7Z356;A8K0Y1;O60242	.;.;BAI3_HUMAN	L	1114;320;78	ENSP00000359630:M1114L;ENSP00000238918:M320L;ENSP00000441821:M78L	ENSP00000238918:M320L	M	+	1	0	BAI3	70105998	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	9.339000	0.96797	2.187000	0.69744	0.528000	0.53228	ATG		0.453	BAI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041120.1			44	171	0	0	0	0.000680045	0	44	171					T	70049277	A	T	70049277	3	4	154	1	0	0	0	0	1	0	0	0	1300	333	12	5	3434	5	BAI3	6	70049277	Missense_Mutation	SNP	A	TCGA-G9-6342-01A-11D-1961-08		70049277	101065790	16	7523											
TAAR8	83551	broad.mit.edu	37	chr6	132874314	132874314	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcctggattctgcctctcacGtacagcggtgctgtgttcta	5	14	10	12	2	3	0	1	0	3	0	5	1	4	1	2	2	4	3	2	2	2	4			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr6:132874314G>A	ENST00000275200.1	+	1	483	c.483G>A	c.(481-483)acG>acA	p.T161T		NM_053278.1	NP_444508.1	Q969N4	TAAR8_HUMAN	trace amine associated receptor 8	161					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|trace-amine receptor activity (GO:0001594)			endometrium(3)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22	Breast(56;0.112)			OV - Ovarian serous cystadenocarcinoma(155;0.00412)|GBM - Glioblastoma multiforme(226;0.00792)		TGCCTCTCACGTACAGCGGTG	0.488																																						ENST00000275200.1																			0				endometrium(3)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22						c.(481-483)acG>acA		trace amine associated receptor 8							315	298	304					6																	132874314		2203	4300	6503	SO:0001819	synonymous_variant	83551					plasma membrane	G-protein coupled receptor activity	g.chr6:132874314G>A	AF380193	CCDS5154.1	6q23.2	2014-05-14	2005-02-23	2005-02-24	ENSG00000146385	ENSG00000146385		"GPCR / Class A : Trace amine associated receptors"	14964	protein-coding gene	gene with protein product		606927	"trace amine receptor 5"	GPR102, TRAR5		11574155, 15718104	Standard	NM_053278		Approved	TA5, TAR5	uc011ecj.2	Q969N4	OTTHUMG00000015586	ENST00000275200.1:c.483G>A	6.37:g.132874314G>A							p.T161T	NM_053278.1	NP_444508.1	Q969N4	TAAR8_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.00412)|GBM - Glioblastoma multiforme(226;0.00792)	1	483	+	Breast(56;0.112)		161					Q5VUQ0	Silent	SNP	ENST00000275200.1	37	c.483G>A	CCDS5154.1																																																																																				0.488	TAAR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042262.1	NM_053278		10	341	0	0	0	0.000673444	0	10	341					A	132874314	G	A	132874314	2	1	154	1	0	0	0	0	0	0	0	1	15490	1132	40	1		1	TAAR8	6	132874314	Silent	SNP	G	TCGA-G9-6342-01A-11D-1961-08	62825037	132874314	38240753	17	7524											
UTRN	7402	broad.mit.edu	37	chr6	145093097	145093097	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aaaatgaccgaactctttcaAtcccttggtaagtgttatta	13	14	6	8	1	2	1	1	1	1	0	3	2	3	1	2	1	1	2	2	1	7	5			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr6:145093097A>G	ENST00000367545.3	+	58	8550	c.8550A>G	c.(8548-8550)caA>caG	p.Q2850Q	UTRN_ENST00000367526.4_Silent_p.Q405Q	NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	2850	Interaction with SYNM.				aging (GO:0007568)|muscle cell differentiation (GO:0042692)|muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|neuron projection morphogenesis (GO:0048812)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of sodium ion transmembrane transporter activity (GO:2000649)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dystrophin-associated glycoprotein complex (GO:0016010)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane (GO:0016020)|membrane raft (GO:0045121)|myofibril (GO:0030016)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|protein kinase binding (GO:0019901)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		AACTCTTTCAATCCCTTGGTA	0.269																																						ENST00000367545.3																			0				NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148						c.(8548-8550)caA>caG		utrophin							64	69	68					6																	145093097		2203	4300	6503	SO:0001819	synonymous_variant	7402				muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding	g.chr6:145093097A>G	AK023675	CCDS34547.1	6q24	2008-02-05	2006-12-13		ENSG00000152818	ENSG00000152818			12635	protein-coding gene	gene with protein product		128240	"utrophin (homologous to dystrophin)"	DMDL		1426262	Standard	NM_007124		Approved	DRP, DRP1	uc003qkt.3	P46939	OTTHUMG00000015746	ENST00000367545.3:c.8550A>G	6.37:g.145093097A>G						UTRN_ENST00000367526.4_Silent_p.Q405Q	p.Q2850Q	NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)	58	8550	+		Ovarian(120;0.218)	2850			Interaction with SYNM.		Q5SYY1|Q5SZ57|Q9UJ40	Silent	SNP	ENST00000367545.3	37	c.8550A>G	CCDS34547.1																																																																																				0.269	UTRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042551.1			4	85	0	0	0	0.00116845	0	4	85					G	145093097	A	G	145093097	2	3	154	1	0	0	0	0	0	0	0	1	17100	98	4	4		4	UTRN	6	145093097	Silent	SNP	A	TCGA-G9-6342-01A-11D-1961-08	12218783	145093097	26021970	18	7525											
FOXP2	93986	broad.mit.edu	37	chr7	114269973	114269973	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cagcaacaacagcagcagcaAcaacaacaacaacagcagca	21	0	6	14	0	0	0	0	0	0	0	0	0	0	0	0	0	13	6	0	0	7	0	rs576887296|rs398124272	byFrequency	TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr7:114269973A>G	ENST00000393494.2	+	5	789	c.510A>G	c.(508-510)caA>caG	p.Q170Q	FOXP2_ENST00000390668.3_Silent_p.Q194Q|FOXP2_ENST00000378237.3_Silent_p.Q170Q|FOXP2_ENST00000403559.4_Silent_p.Q187Q|FOXP2_ENST00000393500.3_Silent_p.Q95Q|FOXP2_ENST00000408937.3_Silent_p.Q195Q|FOXP2_ENST00000360232.4_Silent_p.Q170Q|FOXP2_ENST00000393491.3_Silent_p.Q78Q|AC020606.1_ENST00000580664.1_RNA|FOXP2_ENST00000350908.4_Silent_p.Q170Q|FOXP2_ENST00000393489.3_Silent_p.Q78Q|FOXP2_ENST00000393498.2_Silent_p.Q150Q			O15409	FOXP2_HUMAN	forkhead box P2	170	Gln-rich.				camera-type eye development (GO:0043010)|caudate nucleus development (GO:0021757)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|growth (GO:0040007)|lung alveolus development (GO:0048286)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of epithelial cell proliferation involved in lung morphogenesis (GO:0060501)|positive regulation of mesenchymal cell proliferation (GO:0002053)|post-embryonic development (GO:0009791)|putamen development (GO:0021758)|righting reflex (GO:0060013)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|vocal learning (GO:0042297)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.Q195Q(1)		breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						agcagcagcaacaacaacaac	0.502																																						ENST00000393500.3																			1	Substitution - coding silent(1)	p.Q195Q(1)	kidney(1)	breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						c.(283-285)caA>caG		forkhead box P2							37	35	35					7																	114269973		2203	4294	6497	SO:0001819	synonymous_variant	93986				camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding	g.chr7:114269973A>G	U80741	CCDS5760.1, CCDS5761.1, CCDS43635.1, CCDS5761.2, CCDS55154.1	7q31	2008-07-18			ENSG00000128573	ENSG00000128573		"Forkhead boxes"	13875	protein-coding gene	gene with protein product	"trinucleotide repeat containing 10", "forkhead/winged-helix transcription factor", "speech and language disorder 1", "CAG repeat protein 44"	605317		TNRC10, SPCH1		11586359, 9225980	Standard	NM_014491		Approved	CAGH44	uc003vgz.3	O15409	OTTHUMG00000023131	ENST00000393494.2:c.510A>G	7.37:g.114269973A>G						FOXP2_ENST00000360232.4_Silent_p.Q170Q|FOXP2_ENST00000408937.3_Silent_p.Q195Q|FOXP2_ENST00000393491.3_Silent_p.Q78Q|FOXP2_ENST00000350908.4_Silent_p.Q170Q|FOXP2_ENST00000403559.4_Silent_p.Q187Q|FOXP2_ENST00000390668.3_Silent_p.Q194Q|FOXP2_ENST00000393489.3_Silent_p.Q78Q|FOXP2_ENST00000393498.2_Silent_p.Q150Q|FOXP2_ENST00000393494.2_Silent_p.Q170Q|AC020606.1_ENST00000580664.1_RNA|FOXP2_ENST00000378237.3_Silent_p.Q170Q	p.Q95Q			O15409	FOXP2_HUMAN			11	1105	+			170			Gln-rich.		A0AUV6|A4D0U8|A6NNW4|B4DLD9|Q6ZND1|Q75MJ3|Q8IZE0|Q8N0W2|Q8N6B7|Q8N6B8|Q8NFQ1|Q8NFQ2|Q8NFQ3|Q8NFQ4|Q8TD74	Silent	SNP	ENST00000393494.2	37	c.285A>G	CCDS5760.1																																																																																				0.502	FOXP2-014	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317366.1	NM_014491		3	39	0	0	0	6.4e-05	0	3	39					G	114269973	A	G	114269973	2	3	154	1	0	0	0	0	0	0	0	1	6027	40	2	4		4	FOXP2	7	114269973	Silent	SNP	A	TCGA-G9-6342-01A-11D-1961-08		114269973	44868690	19	7526											
PREX2	80243	broad.mit.edu	37	chr8	68965472	68965472	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctattttgaaagaaagagaaCggcggaaaggtgggtgtatg	14	9	15	3	2	0	3	0	1	0	2	0	5	0	4	0	4	1	1	0	4	6	4	rs200682883		TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr8:68965472C>T	ENST00000288368.4	+	9	1361	c.1084C>T	c.(1084-1086)Cgg>Tgg	p.R362W	PREX2_ENST00000529398.1_3'UTR	NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2	362					adult locomotory behavior (GO:0008344)|dendrite morphogenesis (GO:0048813)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|positive regulation of Rac GTPase activity (GO:0032855)		Rac GTPase activator activity (GO:0030675)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)			NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						AGAAAGAGAACGGCGGAAAGG	0.383													C|||	1	0.000199681	0	0	5008	,	,		17067	0		0.001	False		,,,				2504	0					ENST00000288368.4																			0				NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						c.(1084-1086)Cgg>Tgg		phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2							112	108	109					8																	68965472		2203	4300	6503	SO:0001583	missense	80243				G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity	g.chr8:68965472C>T	AK024079	CCDS6201.1	8q13.1	2014-06-13	2008-09-15	2008-09-15	ENSG00000046889	ENSG00000046889		"Rho guanine nucleotide exchange factors"	22950	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 129"	612139	"DEP domain containing 2"	DEPDC2		15304342, 15304343	Standard	NM_024870		Approved	DEP.2, FLJ12987, P-REX2, PPP1R129	uc003xxv.1	Q70Z35	OTTHUMG00000164402	ENST00000288368.4:c.1084C>T	8.37:g.68965472C>T	ENSP00000288368:p.Arg362Trp					PREX2_ENST00000529398.1_3'UTR	p.R362W	NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN			9	1361	+			362					B4DFX0|Q32KL0|Q32KL1|Q6R7Q3|Q6R7Q4|Q9H805|Q9H961	Missense_Mutation	SNP	ENST00000288368.4	37	c.1084C>T	CCDS6201.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	20.3	3.959465	0.74016	.	.	ENSG00000046889	ENST00000288368;ENST00000396539;ENST00000354677	D	0.88586	-2.4	5.74	3.76	0.43208	Pleckstrin homology-type (1);Pleckstrin homology domain (1);	0.000000	0.85682	D	0.000000	D	0.92974	0.7764	M	0.66439	2.03	0.58432	D	0.999999	D;D;D	0.89917	1.0;0.999;0.999	D;D;D	0.76575	0.988;0.929;0.968	D	0.93576	0.6908	10	0.87932	D	0	.	13.3616	0.60659	0.3985:0.6015:0.0:0.0	.	362;362;362	Q70Z35-2;Q70Z35;Q70Z35-3	.;PREX2_HUMAN;.	W	362	ENSP00000288368:R362W	ENSP00000288368:R362W	R	+	1	2	PREX2	69128026	1.000000	0.71417	0.995000	0.50966	0.994000	0.84299	1.554000	0.36266	1.395000	0.46643	0.655000	0.94253	CGG		0.383	PREX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378620.1	NM_025170		7	59	0	0	0	0.000157383	0	7	59					T	68965472	C	T	68965472	3	4	154	1	0	0	0	0	1	0	0	0	12477	527	19	1	1118	1	PREX2	8	68965472	Missense_Mutation	SNP	C	TCGA-G9-6342-01A-11D-1961-08		68965472	77398550	20	7527											
KAT5	10524	broad.mit.edu	37	chr11	65484372	65484372	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttctccaggagaaagaatcaAcggaagactacaatgtggcc	15	7	10	9	1	2	3	1	0	1	3	3	5	2	4	2	3	2	0	2	3	6	2			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr11:65484372A>G	ENST00000377046.3	+	11	1356	c.1084A>G	c.(1084-1086)Acg>Gcg	p.T362A	KAT5_ENST00000352980.4_Missense_Mutation_p.T310A|KAT5_ENST00000530446.1_Missense_Mutation_p.T343A|KAT5_ENST00000341318.4_Missense_Mutation_p.T395A|KAT5_ENST00000534650.1_Missense_Mutation_p.T151A	NM_006388.3	NP_006379.2	Q92993	KAT5_HUMAN	K(lysine) acetyltransferase 5	362	MYST-type HAT.				androgen receptor signaling pathway (GO:0030521)|cellular response to estradiol stimulus (GO:0071392)|chromatin organization (GO:0006325)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|double-strand break repair (GO:0006302)|histone acetylation (GO:0016573)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|regulation of growth (GO:0040008)|response to ionizing radiation (GO:0010212)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytosol (GO:0005829)|NuA4 histone acetyltransferase complex (GO:0035267)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Piccolo NuA4 histone acetyltransferase complex (GO:0032777)|Swr1 complex (GO:0000812)|transcription factor complex (GO:0005667)	androgen receptor binding (GO:0050681)|histone acetyltransferase activity (GO:0004402)|metal ion binding (GO:0046872)|repressing transcription factor binding (GO:0070491)|transcription coactivator activity (GO:0003713)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)	21						GAAAGAATCAACGGAAGACTA	0.592																																						ENST00000341318.4																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)	21						c.(1183-1185)Acg>Gcg		K(lysine) acetyltransferase 5							153	143	146					11																	65484372		2201	4297	6498	SO:0001583	missense	10524				androgen receptor signaling pathway|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|double-strand break repair|interspecies interaction between organisms|negative regulation of interleukin-2 production|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|regulation of growth|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nucleolus|perinuclear region of cytoplasm|Piccolo NuA4 histone acetyltransferase complex	androgen receptor binding|histone acetyltransferase activity|metal ion binding|repressing transcription factor binding|transcription coactivator activity	g.chr11:65484372A>G	U74667	CCDS8109.1, CCDS8110.1, CCDS31610.1, CCDS55771.1	11q13	2013-01-10	2008-07-04	2008-07-04	ENSG00000172977	ENSG00000172977		"Chromatin-modifying enzymes / K-acetyltransferases", "Zinc fingers, C2HC-type containing"	5275	protein-coding gene	gene with protein product	"Tat interacting protein, 60kDa", "K-acetyltransferase 5"	601409	"HIV-1 Tat interactive protein, 60kDa"	HTATIP		8607265	Standard	NM_006388		Approved	TIP60, PLIP, cPLA2, HTATIP1, ESA1, ZC2HC5	uc001ofk.3	Q92993	OTTHUMG00000166617	ENST00000377046.3:c.1084A>G	11.37:g.65484372A>G	ENSP00000366245:p.Thr362Ala					KAT5_ENST00000352980.4_Missense_Mutation_p.T310A|KAT5_ENST00000530446.1_Missense_Mutation_p.T343A|KAT5_ENST00000534650.1_Missense_Mutation_p.T151A|KAT5_ENST00000377046.3_Missense_Mutation_p.T362A	p.T395A	NM_182710.2	NP_874369.1	Q92993	KAT5_HUMAN			10	1417	+			362					B4E3C7|C9JL99|O95624|Q13430|Q17RW5|Q561W3|Q6GSE8|Q9BWK7	Missense_Mutation	SNP	ENST00000377046.3	37	c.1183A>G	CCDS31610.1	.	.	.	.	.	.	.	.	.	.	A	2.124	-0.400657	0.04865	.	.	ENSG00000172977	ENST00000377046;ENST00000352980;ENST00000341318;ENST00000530446;ENST00000534650	T;T;T;T	0.41065	1.02;1.04;1.01;1.04	5.58	5.58	0.84498	Acyl-CoA N-acyltransferase (2);MOZ/SAS-like protein (1);	0.000000	0.85682	D	0.000000	T	0.20007	0.0481	N	0.02973	-0.45	0.80722	D	1	B;B;B;B	0.31548	0.053;0.328;0.042;0.094	B;B;B;B	0.36186	0.145;0.219;0.051;0.206	T	0.18681	-1.0329	10	0.02654	T	1	-10.3484	13.7037	0.62624	1.0:0.0:0.0:0.0	.	343;395;310;362	B4E3C7;Q92993-3;Q92993-2;Q92993	.;.;.;KAT5_HUMAN	A	362;310;395;343;151	ENSP00000366245:T362A;ENSP00000344955:T310A;ENSP00000340330:T395A;ENSP00000434765:T343A	ENSP00000340330:T395A	T	+	1	0	KAT5	65240948	0.952000	0.32445	0.371000	0.25978	0.112000	0.19704	4.209000	0.58493	2.131000	0.65755	0.533000	0.62120	ACG		0.592	KAT5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390866.2	NM_006388		22	104	0	0	0	0.00278032	0	22	104					G	65484372	A	G	65484372	3	3	154	1	0	0	0	0	1	0	0	0	7983	43	2	4	1221	4	KAT5	11	65484372	Missense_Mutation	SNP	A	TCGA-G9-6342-01A-11D-1961-08		65484372	69522144	21	7528											
METTL7A	25840	broad.mit.edu	37	chr12	51318927	51318927	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gctggatatgcaaaaaatggTtcccctacttcttggtgagg	10	12	11	8	0	1	1	0	1	1	0	2	2	2	2	2	4	2	3	2	4	5	5			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr12:51318927T>C	ENST00000548553.1	+	2	1087	c.106T>C	c.(106-108)Ttc>Ctc	p.F36L	METTL7A_ENST00000332160.4_Missense_Mutation_p.F36L			Q9H8H3	MET7A_HUMAN	methyltransferase like 7A	36						endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|lipid particle (GO:0005811)|membrane (GO:0016020)	methyltransferase activity (GO:0008168)			endometrium(1)|large_intestine(4)|lung(4)|upper_aerodigestive_tract(1)	10						CAAAAAATGGTTCCCCTACTT	0.488																																						ENST00000548553.1																			0				endometrium(1)|large_intestine(4)|lung(4)|upper_aerodigestive_tract(1)	10						c.(106-108)Ttc>Ctc		methyltransferase like 7A							126	114	118					12																	51318927		2203	4300	6503	SO:0001583	missense	25840					endoplasmic reticulum|lipid particle|membrane	methyltransferase activity	g.chr12:51318927T>C		CCDS8804.1	12q13.12	2013-06-20			ENSG00000185432	ENSG00000185432			24550	protein-coding gene	gene with protein product						12975309	Standard	XM_006719332		Approved	DKFZP586A0522	uc001rxb.3	Q9H8H3	OTTHUMG00000169484	ENST00000548553.1:c.106T>C	12.37:g.51318927T>C	ENSP00000448785:p.Phe36Leu					METTL7A_ENST00000332160.4_Missense_Mutation_p.F36L	p.F36L			Q9H8H3	MET7A_HUMAN			2	1087	+			36					Q9H7R3|Q9UHZ7|Q9Y422	Missense_Mutation	SNP	ENST00000548553.1	37	c.106T>C	CCDS8804.1	.	.	.	.	.	.	.	.	.	.	T	11.67	1.708004	0.30322	.	.	ENSG00000185432	ENST00000548553;ENST00000550502;ENST00000332160;ENST00000433599	T;T;T	0.23147	2.25;1.92;2.25	5.0	3.84	0.44239	.	0.268823	0.42548	N	0.000687	T	0.27419	0.0673	M	0.69523	2.12	0.40179	D	0.977262	B;B	0.12013	0.001;0.005	B;B	0.20577	0.003;0.03	T	0.09509	-1.0671	10	0.49607	T	0.09	-0.4382	7.859	0.29499	0.0:0.1604:0.0:0.8396	.	36;36	B4DDW1;Q9H8H3	.;MET7A_HUMAN	L	36	ENSP00000448785:F36L;ENSP00000450239:F36L;ENSP00000331787:F36L	ENSP00000331787:F36L	F	+	1	0	METTL7A	49605194	0.918000	0.31147	0.595000	0.28798	0.152000	0.21847	2.092000	0.41700	1.036000	0.39998	0.533000	0.62120	TTC		0.488	METTL7A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404294.2	NM_014033		17	68	0	0	0	0.000566183	0	17	68					C	51318927	T	C	51318927	3	2	154	1	0	0	0	0	1	0	0	0	9505	1725	60	4	108	4	METTL7A	12	51318927	Missense_Mutation	SNP	T	TCGA-G9-6342-01A-11D-1961-08		51318927	82532968	22	7529											
BEST3	144453	broad.mit.edu	37	chr12	70091546	70091546	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaaatccaaaaaaagttgcAtttgctactttactggagta	15	13	7	6	0	0	1	0	1	0	0	1	2	1	2	1	1	4	4	1	1	7	6			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr12:70091546A>T	ENST00000330891.5	-	2	259	c.33T>A	c.(31-33)aaT>aaA	p.N11K	BEST3_ENST00000331471.4_Missense_Mutation_p.N11K|BEST3_ENST00000533674.1_Intron|BEST3_ENST00000393365.1_5'UTR|BEST3_ENST00000553096.1_Intron|BEST3_ENST00000551160.1_Intron|BEST3_ENST00000476098.1_Intron|BEST3_ENST00000266661.4_Intron	NM_001282613.1|NM_032735.2	NP_001269542.1|NP_116124.2	Q8N1M1	BEST3_HUMAN	bestrophin 3	11					negative regulation of ion transport (GO:0043271)	chloride channel complex (GO:0034707)|plasma membrane (GO:0005886)	chloride channel activity (GO:0005254)			cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(2)	12	Breast(13;2.31e-06)|Esophageal squamous(21;0.187)		Lung(24;0.000278)|OV - Ovarian serous cystadenocarcinoma(12;0.0019)|STAD - Stomach adenocarcinoma(21;0.00694)			AAAAAGTTGCATTTGCTACTT	0.353																																						ENST00000330891.5																			0				cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(2)	12						c.(31-33)aaT>aaA		bestrophin 3							113	110	111					12																	70091546		1830	4090	5920	SO:0001583	missense	144453					chloride channel complex|plasma membrane	chloride channel activity	g.chr12:70091546A>T	AF440758	CCDS8992.2, CCDS41810.1, CCDS61192.1, CCDS61193.1, CCDS73496.1	12q14.2-q15	2012-09-26	2006-10-18	2006-10-18	ENSG00000127325	ENSG00000127325		"Ion channels / Chloride channels : Calcium activated : Bestrophins"	17105	protein-coding gene	gene with protein product		607337	"vitelliform macular dystrophy 2-like 3"	VMD2L3		12032738	Standard	NM_032735		Approved	MGC40411, MGC13168	uc001svg.3	Q8N1M1	OTTHUMG00000149919	ENST00000330891.5:c.33T>A	12.37:g.70091546A>T	ENSP00000332413:p.Asn11Lys					BEST3_ENST00000551160.1_Intron|BEST3_ENST00000476098.1_Intron|BEST3_ENST00000393365.1_5'UTR|BEST3_ENST00000266661.4_Intron|BEST3_ENST00000331471.4_Missense_Mutation_p.N11K|BEST3_ENST00000553096.1_Intron|BEST3_ENST00000533674.1_Intron	p.N11K	NM_032735.2	NP_116124.2	Q8N1M1	BEST3_HUMAN	Lung(24;0.000278)|OV - Ovarian serous cystadenocarcinoma(12;0.0019)|STAD - Stomach adenocarcinoma(21;0.00694)		2	259	-	Breast(13;2.31e-06)|Esophageal squamous(21;0.187)		11					B5MDI8|F8VVZ2|Q53YQ7|Q8N356|Q8NFT9|Q9BR80	Missense_Mutation	SNP	ENST00000330891.5	37	c.33T>A	CCDS8992.2	.	.	.	.	.	.	.	.	.	.	A	16.20	3.054785	0.55325	.	.	ENSG00000127325	ENST00000331471;ENST00000330891;ENST00000548658	D;D;D	0.98362	-4.89;-4.89;-4.89	5.84	3.47	0.39725	.	0.000000	0.85682	D	0.000000	D	0.98077	0.9366	M	0.82323	2.585	0.80722	D	1	P;B	0.46395	0.877;0.081	P;B	0.51742	0.678;0.051	D	0.97098	0.9795	10	0.40728	T	0.16	-24.9836	10.5116	0.44866	0.8665:0.0:0.1335:0.0	.	11;11	Q8N1M1;Q8N1M1-1	BEST3_HUMAN;.	K	11	ENSP00000329064:N11K;ENSP00000332413:N11K;ENSP00000446575:N11K	ENSP00000332413:N11K	N	-	3	2	BEST3	68377813	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.106000	0.57804	1.038000	0.40049	0.528000	0.53228	AAT		0.353	BEST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313908.2	NM_152439		28	110	0	0	0	0.001512	0	28	110					T	70091546	A	T	70091546	3	4	154	1	0	0	0	0	1	0	0	0	1406	214	8	5	2009	5	BEST3	12	70091546	Missense_Mutation	SNP	A	TCGA-G9-6342-01A-11D-1961-08	18772619	70091546	63760349	23	7530											
XPO6	23214	broad.mit.edu	37	chr16	28115941	28115941	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctctggacactggccagcaCggtggacttgaagaagtacc	10	7	12	12	1	1	2	0	1	1	1	1	4	1	4	3	4	2	2	3	4	3	2			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr16:28115941C>T	ENST00000304658.5	-	21	3372	c.2872G>A	c.(2872-2874)Gtg>Atg	p.V958M	XPO6_ENST00000565698.1_Missense_Mutation_p.V944M	NM_015171.3	NP_055986.1	Q96QU8	XPO6_HUMAN	exportin 6	958					protein export from nucleus (GO:0006611)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein transporter activity (GO:0008565)			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	25						CTGGCCAGCACGGTGGACTTG	0.587																																						ENST00000304658.5																			0				breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	25						c.(2872-2874)Gtg>Atg		exportin 6							69	73	72					16																	28115941		2059	4211	6270	SO:0001583	missense	23214				protein export from nucleus		protein binding|protein transporter activity	g.chr16:28115941C>T	AY026388	CCDS42135.1, CCDS59266.1	16p11.2	2011-04-13	2003-03-11	2003-03-14		ENSG00000169180		"Exportins"	19733	protein-coding gene	gene with protein product		608411	"RAN binding protein 20"	RANBP20		14592989	Standard	NM_001270940		Approved	KIAA0370, FLJ22519	uc002dpa.2	Q96QU8		ENST00000304658.5:c.2872G>A	16.37:g.28115941C>T	ENSP00000302790:p.Val958Met					XPO6_ENST00000565698.1_Missense_Mutation_p.V944M	p.V958M	NM_015171.2	NP_055986.1	Q96QU8	XPO6_HUMAN			21	3372	-			958					A1L3W4|D3DWF9|Q2YDX3|Q53G88|Q68G50|Q76N88|Q96CP8|Q9BT21	Missense_Mutation	SNP	ENST00000304658.5	37	c.2872G>A	CCDS42135.1	.	.	.	.	.	.	.	.	.	.	C	25.8	4.674519	0.88445	.	.	ENSG00000169180	ENST00000304658	T	0.69306	-0.39	6.17	5.23	0.72850	Armadillo-type fold (1);	0.115570	0.64402	D	0.000018	T	0.77738	0.4175	M	0.66939	2.045	0.80722	D	1	D;D	0.67145	0.996;0.995	P;P	0.62435	0.902;0.765	T	0.80306	-0.1438	10	0.72032	D	0.01	-18.4053	13.4045	0.60903	0.0:0.9248:0.0:0.0752	.	958;958	B7ZM10;Q96QU8	.;XPO6_HUMAN	M	958	ENSP00000302790:V958M	ENSP00000302790:V958M	V	-	1	0	XPO6	28023442	0.999000	0.42202	0.985000	0.45067	0.986000	0.74619	4.088000	0.57678	1.634000	0.50500	0.655000	0.94253	GTG		0.587	XPO6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433732.1	XM_055195		7	60	0	0	0	0.000157383	0	7	60					T	28115941	C	T	28115941	3	4	154	1	0	0	0	0	1	0	0	0	17445	536	19	1	521	1	XPO6	16	28115941	Missense_Mutation	SNP	C	TCGA-G9-6342-01A-11D-1961-08		28115941	62238812	24	7531											
GPS2	2874	broad.mit.edu	37	chr17	7217275	7217275	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggctctgtcagctgccatgaGggtgcctgggcgattgtgtc	4	11	16	10	1	2	1	1	1	1	0	3	2	2	1	2	3	3	2	2	3	0	1			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr17:7217275G>C	ENST00000380728.2	-	6	730	c.430C>G	c.(430-432)Ctc>Gtc	p.L144V	GPS2_ENST00000391950.3_Missense_Mutation_p.L144V|GPS2_ENST00000389167.5_Missense_Mutation_p.L144V|RP11-542C16.2_ENST00000575474.1_3'UTR			Q13227	GPS2_HUMAN	G protein pathway suppressor 2	144					cell cycle (GO:0007049)|inactivation of MAPK activity (GO:0000188)|JNK cascade (GO:0007254)|negative regulation of JNK cascade (GO:0046329)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	GTPase inhibitor activity (GO:0005095)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(1)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(4)	24		Prostate(122;0.157)				GCTGCCATGAGGGTGCCTGGG	0.547																																						ENST00000380728.2																			0				breast(1)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(1)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(4)	24						c.(430-432)Ctc>Gtc		G protein pathway suppressor 2							133	126	128					17																	7217275		2203	4300	6503	SO:0001583	missense	2874				cell cycle|inactivation of MAPK activity|JNK cascade|negative regulation of JNK cascade|negative regulation of transcription from RNA polymerase II promoter	transcriptional repressor complex	GTPase inhibitor activity|protein binding|transcription corepressor activity	g.chr17:7217275G>C	U28963	CCDS11100.1	17p13.1	2006-04-29			ENSG00000132522	ENSG00000132522			4550	protein-coding gene	gene with protein product		601935				8943324	Standard	NM_004489		Approved		uc002gfx.1	Q13227	OTTHUMG00000102198	ENST00000380728.2:c.430C>G	17.37:g.7217275G>C	ENSP00000370104:p.Leu144Val					RP11-542C16.2_ENST00000575474.1_3'UTR|GPS2_ENST00000391950.3_Missense_Mutation_p.L144V|GPS2_ENST00000389167.5_Missense_Mutation_p.L144V	p.L144V			Q13227	GPS2_HUMAN			6	730	-		Prostate(122;0.157)	144					B4DXA1|Q6FHM8	Missense_Mutation	SNP	ENST00000380728.2	37	c.430C>G	CCDS11100.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.237038	0.79800	.	.	ENSG00000132522	ENST00000391950;ENST00000380728;ENST00000389167;ENST00000315601	T;T	0.52057	0.68;0.68	4.88	4.88	0.63580	.	0.000000	0.64402	U	0.000009	T	0.49779	0.1577	L	0.32530	0.975	0.58432	D	0.999995	D	0.64830	0.994	P	0.54706	0.759	T	0.40701	-0.9549	10	0.34782	T	0.22	.	15.0613	0.71955	0.0:0.0:1.0:0.0	.	144	Q13227	GPS2_HUMAN	V	144	ENSP00000370104:L144V;ENSP00000379841:L144V	ENSP00000319371:L144V	L	-	1	0	GPS2	7157999	1.000000	0.71417	0.994000	0.49952	0.928000	0.56348	6.675000	0.74493	2.548000	0.85928	0.655000	0.94253	CTC		0.547	GPS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000220048.4	NM_004489		35	90	0	0	0	0.00111076	0	35	90					C	7217275	G	C	7217275	3	2	154	1	0	0	0	0	1	0	0	0	6733	1000	35	5	577	5	GPS2	17	7217275	Missense_Mutation	SNP	G	TCGA-G9-6342-01A-11D-1961-08		7217275	73977935	25	7532											
DUS3L	56931	broad.mit.edu	37	chr19	5790299	5790299	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cccggcaagtcttctcctgcCctttggcttccaggaattgg	5	12	10	14	1	2	0	0	0	2	0	4	1	3	1	4	4	1	2	4	4	2	4			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr19:5790299C>A	ENST00000309061.7	-	2	242	c.146G>T	c.(145-147)gGg>gTg	p.G49V	DUS3L_ENST00000320699.8_Missense_Mutation_p.G49V|DUS3L_ENST00000590681.1_5'UTR	NM_020175.2	NP_064560.2	Q96G46	DUS3L_HUMAN	dihydrouridine synthase 3-like (S. cerevisiae)	49							flavin adenine dinucleotide binding (GO:0050660)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|tRNA dihydrouridine synthase activity (GO:0017150)			endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(2)	14						CTTCTCCTGCCCTTTGGCTTC	0.547																																						ENST00000309061.7																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(2)	14						c.(145-147)gGg>gTg		dihydrouridine synthase 3-like (S. cerevisiae)							77	72	74					19																	5790299		2203	4300	6503	SO:0001583	missense	56931				tRNA processing		flavin adenine dinucleotide binding|nucleic acid binding|tRNA dihydrouridine synthase activity|zinc ion binding	g.chr19:5790299C>A		CCDS32880.1, CCDS54202.1	19p13.3	2014-02-12			ENSG00000141994	ENSG00000141994			26920	protein-coding gene	gene with protein product						12477932	Standard	NM_020175		Approved	DUS3, FLJ13896	uc002mdc.3	Q96G46	OTTHUMG00000162311	ENST00000309061.7:c.146G>T	19.37:g.5790299C>A	ENSP00000311977:p.Gly49Val					DUS3L_ENST00000320699.8_Missense_Mutation_p.G49V|DUS3L_ENST00000590681.1_5'UTR	p.G49V	NM_020175.2	NP_064560.2	Q96G46	DUS3L_HUMAN			2	242	-			49					Q96HM5|Q9BSU4|Q9H877|Q9NPR1	Missense_Mutation	SNP	ENST00000309061.7	37	c.146G>T	CCDS32880.1	.	.	.	.	.	.	.	.	.	.	C	0.701	-0.790918	0.02884	.	.	ENSG00000141994	ENST00000309061;ENST00000320699	T;T	0.24350	2.27;1.86	4.74	1.38	0.22167	.	0.299395	0.34959	N	0.003555	T	0.19208	0.0461	L	0.48642	1.525	0.20403	N	0.999909	B;P	0.39717	0.161;0.684	B;B	0.35727	0.107;0.209	T	0.09509	-1.0671	10	0.54805	T	0.06	-10.0473	8.2212	0.31543	0.0:0.7206:0.0:0.2794	.	49;49	Q96G46-3;Q96G46	.;DUS3L_HUMAN	V	49	ENSP00000311977:G49V;ENSP00000315558:G49V	ENSP00000311977:G49V	G	-	2	0	DUS3L	5741299	0.000000	0.05858	0.001000	0.08648	0.010000	0.07245	0.718000	0.25866	0.158000	0.19367	-0.748000	0.03510	GGG		0.547	DUS3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451870.2	NM_020175		11	64	1	0	4.84862e-15	0.000978159	7.64024e-14	11	64					A	5790299	C	A	5790299	3	1	154	1	0	0	0	0	1	0	0	0	4807	623	22	5	1854	5	DUS3L	19	5790299	Missense_Mutation	SNP	C	TCGA-G9-6342-01A-11D-1961-08		5790299	53338684	26	7533											
ICAM5	7087	broad.mit.edu	37	chr19	10404518	10404518	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaactcggggccgtcatcgAggggctgttgcgtgtggccc	5	8	17	11	4	1	1	1	0	0	1	3	2	1	1	2	5	2	2	2	5	1	1			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr19:10404518A>C	ENST00000221980.4	+	7	1673	c.1610A>C	c.(1609-1611)gAg>gCg	p.E537A		NM_003259.3	NP_003250.3	Q9UMF0	ICAM5_HUMAN	intercellular adhesion molecule 5, telencephalin	537	Ig-like C2-type 6.				phagocytosis (GO:0006909)|single organismal cell-cell adhesion (GO:0016337)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(20;2.64e-09)|Epithelial(33;4.31e-06)|all cancers(31;9.75e-06)			GCCGTCATCGAGGGGCTGTTG	0.662																																						ENST00000221980.4																			0				breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	21						c.(1609-1611)gAg>gCg		intercellular adhesion molecule 5, telencephalin							72	78	76					19																	10404518		2203	4300	6503	SO:0001583	missense	7087				cell-cell adhesion	integral to plasma membrane		g.chr19:10404518A>C	U72671	CCDS12233.1	19p13.2	2013-01-14				ENSG00000105376		"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5348	protein-coding gene	gene with protein product	"telencephalin"	601852		TLCN		8995416, 9828136	Standard	NM_003259		Approved	TLN	uc002mnu.4	Q9UMF0		ENST00000221980.4:c.1610A>C	19.37:g.10404518A>C	ENSP00000221980:p.Glu537Ala						p.E537A	NM_003259.3	NP_003250.3	Q9UMF0	ICAM5_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;2.64e-09)|Epithelial(33;4.31e-06)|all cancers(31;9.75e-06)		7	1673	+			537			Ig-like C2-type 6.		Q9Y6F3	Missense_Mutation	SNP	ENST00000221980.4	37	c.1610A>C	CCDS12233.1	.	.	.	.	.	.	.	.	.	.	A	9.380	1.072640	0.20147	.	.	ENSG00000105376	ENST00000221980	T	0.08807	3.05	5.37	3.07	0.35406	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.354418	0.24005	N	0.042439	T	0.05456	0.0144	N	0.26130	0.795	0.27474	N	0.95277	B	0.31968	0.349	B	0.33846	0.171	T	0.35649	-0.9780	10	0.09590	T	0.72	-30.8883	8.4899	0.33093	0.674:0.0:0.0:0.326	.	537	Q9UMF0	ICAM5_HUMAN	A	537	ENSP00000221980:E537A	ENSP00000221980:E537A	E	+	2	0	ICAM5	10265518	0.999000	0.42202	0.712000	0.30502	0.064000	0.16182	1.646000	0.37249	0.867000	0.35654	0.368000	0.22195	GAG		0.662	ICAM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451217.1	NM_003259		21	93	0	0	0	0.00047179	0	21	93					C	10404518	A	C	10404518	3	2	154	1	0	0	0	0	1	0	0	0	7483	304	11	5	1636	5	ICAM5	19	10404518	Missense_Mutation	SNP	A	TCGA-G9-6342-01A-11D-1961-08	4614219	10404518	48724465	27	7534											
ZNF442	79973	broad.mit.edu	37	chr19	12461101	12461101	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	taccacattctttacattcaTagggtttctcaccagtatga	11	15	5	10	0	3	1	2	1	2	0	4	1	3	1	2	1	2	2	2	1	4	8			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr19:12461101T>C	ENST00000242804.4	-	6	1880	c.1298A>G	c.(1297-1299)tAt>tGt	p.Y433C	CTD-3105H18.13_ENST00000563695.2_lincRNA|ZNF442_ENST00000438182.1_Missense_Mutation_p.Y364C	NM_030824.2	NP_110451.1	Q9H7R0	ZN442_HUMAN	zinc finger protein 442	433					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	31						TTTACATTCATAGGGTTTCTC	0.413																																						ENST00000242804.4																			0				breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	31						c.(1297-1299)tAt>tGt		zinc finger protein 442							94	97	96					19																	12461101		2203	4300	6503	SO:0001583	missense	79973				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12461101T>C	AK024418	CCDS12271.1	19p13.13	2013-01-08			ENSG00000198342	ENSG00000198342		"Zinc fingers, C2H2-type", "-"	20877	protein-coding gene	gene with protein product							Standard	NM_030824		Approved	FLJ14356	uc002mtr.1	Q9H7R0	OTTHUMG00000156411	ENST00000242804.4:c.1298A>G	19.37:g.12461101T>C	ENSP00000242804:p.Tyr433Cys					ZNF442_ENST00000438182.1_Missense_Mutation_p.Y364C	p.Y433C	NM_030824.2	NP_110451.1	Q9H7R0	ZN442_HUMAN			6	1880	-			433					B4DJ48	Missense_Mutation	SNP	ENST00000242804.4	37	c.1298A>G	CCDS12271.1	.	.	.	.	.	.	.	.	.	.	T	15.46	2.839621	0.51057	.	.	ENSG00000198342	ENST00000242804;ENST00000438182	T;T	0.25414	1.8;1.8	0.832	0.832	0.18867	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.45074	0.1324	M	0.80332	2.49	0.30967	N	0.722984	D	0.89917	1.0	D	0.97110	1.0	T	0.47249	-0.9132	9	0.87932	D	0	.	2.9212	0.05770	0.4068:0.0:0.0:0.5932	.	433	Q9H7R0	ZN442_HUMAN	C	433;364	ENSP00000242804:Y433C;ENSP00000388634:Y364C	ENSP00000242804:Y433C	Y	-	2	0	ZNF442	12322101	0.001000	0.12720	0.953000	0.39169	0.793000	0.44817	0.188000	0.17018	0.617000	0.30160	0.260000	0.18958	TAT		0.413	ZNF442-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344109.1	NM_030824		4	87	0	0	0	0.00116845	0	4	87					C	12461101	T	C	12461101	3	2	154	1	0	0	0	0	1	0	0	0	17912	1406	49	4	589	4	ZNF442	19	12461101	Missense_Mutation	SNP	T	TCGA-G9-6342-01A-11D-1961-08	2056583	12461101	46667882	28	7535											
GPR112	139378	broad.mit.edu	37	chrX	135405107	135405107	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctcttatattactaataacGccctcctgggcagagaagac	12	11	7	11	1	1	2	0	0	1	2	3	3	2	2	2	1	2	1	2	1	6	5	rs142877839		TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chrX:135405107G>A	ENST00000394143.1	+	5	532	c.241G>A	c.(241-243)Gcc>Acc	p.A81T	GPR112_ENST00000370652.1_Missense_Mutation_p.A81T|GPR112_ENST00000287534.4_Missense_Mutation_p.A18T|GPR112_ENST00000394141.1_Intron|GPR112_ENST00000412101.1_Intron	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	81					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					TACTAATAACGCCCTCCTGGG	0.448													G|||	1	0.000264901	0	0	3775	,	,		14048	0.001		0	False		,,,				2504	0					ENST00000394143.1																			0				NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199						c.(241-243)Gcc>Acc		G protein-coupled receptor 112							126	117	121					X																	135405107		2203	4300	6503	SO:0001583	missense	139378				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chrX:135405107G>A	AY140954	CCDS35409.1	Xq26.3	2014-08-08			ENSG00000156920	ENSG00000156920		"-", "GPCR / Class B : Orphans"	18992	protein-coding gene	gene with protein product						12435584	Standard	XM_005262367		Approved	RP1-299I16, PGR17	uc004ezu.1	Q8IZF6	OTTHUMG00000022508	ENST00000394143.1:c.241G>A	X.37:g.135405107G>A	ENSP00000377699:p.Ala81Thr					GPR112_ENST00000412101.1_Intron|GPR112_ENST00000394141.1_Intron|GPR112_ENST00000370652.1_Missense_Mutation_p.A81T|GPR112_ENST00000287534.4_Missense_Mutation_p.A18T	p.A81T	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN			5	532	+	Acute lymphoblastic leukemia(192;0.000127)		81					A2A2J1|A2A2J2|Q5EGP2|Q86SM6	Missense_Mutation	SNP	ENST00000394143.1	37	c.241G>A	CCDS35409.1	1	6.027727546714888E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	0.010	-1.794628	0.00617	.	.	ENSG00000156920	ENST00000394143;ENST00000370652;ENST00000287534	T;T;T	0.26660	1.72;1.72;1.88	5.62	-3.42	0.04825	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);	.	.	.	.	T	0.11793	0.0287	N	0.25647	0.755	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.40794	-0.9544	9	0.02654	T	1	.	6.6765	0.23098	0.5944:0.1183:0.2873:0.0	.	81	Q8IZF6	GP112_HUMAN	T	81;81;18	ENSP00000377699:A81T;ENSP00000359686:A81T;ENSP00000287534:A18T	ENSP00000287534:A18T	A	+	1	0	GPR112	135232773	0.000000	0.05858	0.000000	0.03702	0.029000	0.11900	0.046000	0.14035	-1.043000	0.03258	-1.496000	0.00964	GCC		0.448	GPR112-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000286639.1			53	36	0	0	0	0.000781405	0	53	36					A	135405107	G	A	135405107	3	1	154	1	0	0	0	0	1	0	0	0	6629	1087	38	1	247	1	GPR112	23	135405107	Missense_Mutation	SNP	G	TCGA-G9-6342-01A-11D-1961-08		135405107	19865453	29	7536											
PDZD4	57595	broad.mit.edu	37	chrX	153073955	153073955	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccccccggaggcgggggctGcgtctcagcacctggatcac	5	6	14	16	3	2	0	2	0	1	0	4	2	3	2	4	5	2	2	4	5	0	0			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chrX:153073955G>A	ENST00000164640.4	-	2	347	c.156C>T	c.(154-156)cgC>cgT	p.R52R	PDZD4_ENST00000475140.1_5'UTR|PDZD4_ENST00000544474.1_Intron|PDZD4_ENST00000393758.2_5'UTR	NM_032512.2	NP_115901.2	Q76G19	PDZD4_HUMAN	PDZ domain containing 4	52						cytoplasm (GO:0005737)				breast(3)|cervix(1)|endometrium(5)|lung(13)|skin(1)	23	all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GGCGGGGGCTGCGTCTCAGCA	0.642																																						ENST00000164640.4																			0				breast(3)|cervix(1)|endometrium(5)|lung(13)|skin(1)	23						c.(154-156)cgC>cgT		PDZ domain containing 4							39	32	34					X																	153073955		2201	4298	6499	SO:0001819	synonymous_variant	57595					cell cortex		g.chrX:153073955G>A	AK091444	CCDS14732.1	Xq28	2008-02-05		2006-01-24	ENSG00000067840	ENSG00000067840			21167	protein-coding gene	gene with protein product		300634		PDZK4		10819331, 15077175	Standard	NM_032512		Approved	KIAA1444, LU1, FLJ34125, PDZRN4L	uc004fiz.1	Q76G19	OTTHUMG00000024209	ENST00000164640.4:c.156C>T	X.37:g.153073955G>A						PDZD4_ENST00000393758.2_5'UTR|PDZD4_ENST00000475140.1_5'UTR|PDZD4_ENST00000544474.1_Intron	p.R52R	NM_032512.2	NP_115901.2	Q76G19	PDZD4_HUMAN			2	347	-	all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		52					B3KXB1|B7ZKY3|Q8NB75|Q9BUH9|Q9P284	Silent	SNP	ENST00000164640.4	37	c.156C>T	CCDS14732.1																																																																																				0.642	PDZD4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061013.3	NM_032512		5	7	0	0	0	0.00116845	0	5	7					A	153073955	G	A	153073955	2	1	154	1	0	0	0	0	0	0	0	1	11703	1306	46	3		3	PDZD4	23	153073955	Silent	SNP	G	TCGA-G9-6342-01A-11D-1961-08	17668848	153073955	2196605	30	7537											
C1orf94	84970	broad.mit.edu	37	chr1	34684353	34684353	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcttccagtgggaatggcatAaacttttagatctcctcttc	9	15	7	10	0	3	1	0	0	3	1	6	2	4	2	2	2	1	1	2	2	4	5			TCGA-G9-6343-01A-21D-1961-08	TCGA-G9-6343-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdb78cfc-4a29-488a-b215-a4996b3ab873	e4bf7fcc-99b3-4e83-8336-2caacc77a011	g.chr1:34684353A>C	ENST00000488417.1	+	7	1908	c.1788A>C	c.(1786-1788)atA>atC	p.I596I	C1orf94_ENST00000373374.3_Silent_p.I406I	NM_001134734.1	NP_001128206.1	Q6P1W5	CA094_HUMAN	chromosome 1 open reading frame 94	596										central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(15)|skin(4)|upper_aerodigestive_tract(2)	32		Myeloproliferative disorder(586;0.0393)				GGAATGGCATAAACTTTTAGA	0.502																																						ENST00000488417.1																			0				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(15)|skin(4)|upper_aerodigestive_tract(2)	32						c.(1786-1788)atA>atC		chromosome 1 open reading frame 94							129	124	125					1																	34684353		2203	4300	6503	SO:0001819	synonymous_variant	84970						protein binding	g.chr1:34684353A>C	AK123355	CCDS381.1, CCDS44108.1	1p34.3	2012-06-26			ENSG00000142698	ENSG00000142698			28250	protein-coding gene	gene with protein product						12477932	Standard	NM_001134734		Approved	MGC15882	uc001bxt.3	Q6P1W5	OTTHUMG00000004012	ENST00000488417.1:c.1788A>C	1.37:g.34684353A>C						C1orf94_ENST00000373374.3_Silent_p.I406I	p.I596I	NM_001134734.1	NP_001128206.1	Q6P1W5	CA094_HUMAN			7	1908	+		Myeloproliferative disorder(586;0.0393)	406					B3KVT1|D3DPR3|E9PJ76|Q96IC8	Silent	SNP	ENST00000488417.1	37	c.1788A>C	CCDS44108.1																																																																																				0.502	C1orf94-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036845.2	NM_032884		9	86	0	0	0	0.008291	0	9	86					C	34684353	A	C	34684353	2	2	155	1	0	0	0	0	0	0	0	1	2071	352	13	5		5	C1orf94	1	34684353	Silent	SNP	A	TCGA-G9-6343-01A-21D-1961-08		34684353	214566268	1	7538											
GJB4	127534	broad.mit.edu	37	chr1	35226969	35226969	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgtgtgctggtgtacgtggtGgcagcggaggaggtgtggga	5	9	22	5	3	0	0	0	0	0	0	0	3	0	3	0	7	3	3	0	7	1	1			TCGA-G9-6343-01A-21D-1961-08	TCGA-G9-6343-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdb78cfc-4a29-488a-b215-a4996b3ab873	e4bf7fcc-99b3-4e83-8336-2caacc77a011	g.chr1:35226969G>A	ENST00000339480.1	+	2	484	c.114G>A	c.(112-114)gtG>gtA	p.V38V	RP1-34M23.5_ENST00000542839.1_RNA	NM_153212.2	NP_694944.1	Q9NTQ9	CXB4_HUMAN	gap junction protein, beta 4, 30.3kDa	38					cell communication (GO:0007154)|olfactory behavior (GO:0042048)|sensory perception of smell (GO:0007608)	connexon complex (GO:0005922)|integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|skin(1)	16		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.234)				TGTACGTGGTGGCAGCGGAGG	0.582																																						ENST00000339480.1																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|skin(1)	16						c.(112-114)gtG>gtA		gap junction protein, beta 4, 30.3kDa							239	161	188					1																	35226969		2203	4300	6503	SO:0001819	synonymous_variant	127534				cell communication	connexon complex|integral to membrane	gap junction channel activity	g.chr1:35226969G>A		CCDS383.1	1p35-p34	2008-05-14	2007-11-06		ENSG00000189433	ENSG00000189433		"Ion channels / Gap junction proteins (connexins)"	4286	protein-coding gene	gene with protein product	"connexin 30.3"	605425	"gap junction protein, beta 4 (connexin 30.3)", "gap junction protein, beta 4"				Standard	NM_153212		Approved	CX30.3	uc001bxv.1	Q9NTQ9	OTTHUMG00000004052	ENST00000339480.1:c.114G>A	1.37:g.35226969G>A							p.V38V	NM_153212.2	NP_694944.1	Q9NTQ9	CXB4_HUMAN			2	484	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.234)	38					B3KQ82	Silent	SNP	ENST00000339480.1	37	c.114G>A	CCDS383.1																																																																																				0.582	GJB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011560.1	NM_153212		6	47	0	0	0	0.00308	0	6	47					A	35226969	G	A	35226969	2	1	155	1	0	0	0	0	0	0	0	1	6410	1335	47	3		3	GJB4	1	35226969	Silent	SNP	G	TCGA-G9-6343-01A-21D-1961-08	542616	35226969	214023652	2	7539											
CHI3L1	1116	broad.mit.edu	37	chr1	203152888	203152888	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgacttgatgaaagtccggcGactctgggtgttggaggcta	8	11	15	7	2	1	3	0	3	1	0	2	5	2	4	1	4	0	2	1	4	2	3	rs199779694		TCGA-G9-6343-01A-21D-1961-08	TCGA-G9-6343-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdb78cfc-4a29-488a-b215-a4996b3ab873	e4bf7fcc-99b3-4e83-8336-2caacc77a011	g.chr1:203152888G>A	ENST00000255409.3	-	5	471	c.346C>T	c.(346-348)Cgc>Tgc	p.R116C		NM_001276.2	NP_001267.2	P36222	CH3L1_HUMAN	chitinase 3-like 1 (cartilage glycoprotein-39)	116					activation of NF-kappaB-inducing kinase activity (GO:0007250)|apoptotic process (GO:0006915)|carbohydrate metabolic process (GO:0005975)|cartilage development (GO:0051216)|cellular response to tumor necrosis factor (GO:0071356)|chitin catabolic process (GO:0006032)|inflammatory response (GO:0006954)|interleukin-8 secretion (GO:0072606)|lung development (GO:0030324)|positive regulation of angiogenesis (GO:0045766)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of protein kinase B signaling (GO:0051897)|response to interleukin-1 (GO:0070555)|response to interleukin-6 (GO:0070741)|response to mechanical stimulus (GO:0009612)|response to tumor necrosis factor (GO:0034612)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	carbohydrate binding (GO:0030246)|chitin binding (GO:0008061)|extracellular matrix structural constituent (GO:0005201)|hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)			breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|skin(1)	18						AAAGTCCGGCGACTCTGGGTG	0.552																																						ENST00000255409.3																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|skin(1)	18						c.(346-348)Cgc>Tgc		chitinase 3-like 1 (cartilage glycoprotein-39)							116	97	103					1																	203152888		2203	4300	6503	SO:0001583	missense	1116				chitin catabolic process	extracellular space|proteinaceous extracellular matrix	cation binding|chitinase activity|extracellular matrix structural constituent|sugar binding	g.chr1:203152888G>A	BC008568	CCDS1435.1	1q32.1	2008-02-05			ENSG00000133048	ENSG00000133048			1932	protein-coding gene	gene with protein product		601525				8245017, 9244440	Standard	NM_001276		Approved	GP39, YKL40	uc001gzi.2	P36222	OTTHUMG00000042122	ENST00000255409.3:c.346C>T	1.37:g.203152888G>A	ENSP00000255409:p.Arg116Cys						p.R116C	NM_001276.2	NP_001267.2	P36222	CH3L1_HUMAN			5	471	-			116					B2R7B0|P30923|Q8IVA4|Q96HI7	Missense_Mutation	SNP	ENST00000255409.3	37	c.346C>T	CCDS1435.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	19.38	3.817203	0.70912	.	.	ENSG00000133048	ENST00000255409	T	0.10573	2.86	5.69	5.69	0.88448	Chitinase II (1);Glycoside hydrolase, family 18, catalytic domain (1);Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.000000	0.56097	D	0.000024	T	0.55465	0.1922	H	0.99391	4.545	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.75988	-0.3123	10	0.72032	D	0.01	-28.6302	17.3057	0.87194	0.0:0.0:1.0:0.0	.	116	P36222	CH3L1_HUMAN	C	116	ENSP00000255409:R116C	ENSP00000255409:R116C	R	-	1	0	CHI3L1	201419511	1.000000	0.71417	0.137000	0.22149	0.371000	0.29859	4.947000	0.63583	2.664000	0.90586	0.655000	0.94253	CGC		0.552	CHI3L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000100265.1	NM_001276		5	91	0	0	0	0.000602	0	5	91					A	203152888	G	A	203152888	3	1	155	1	0	0	0	0	1	0	0	0	3340	1058	37	2	829	2	CHI3L1	1	203152888	Missense_Mutation	SNP	G	TCGA-G9-6343-01A-21D-1961-08	167925919	203152888	46097733	3	7540											
NRXN1	9378	broad.mit.edu	37	chr2	50850692	50850692	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctgctgctttgaatggggttTtgagacaagtcgtagcagaa	10	12	13	6	1	0	3	0	2	0	2	1	4	0	3	0	2	3	5	0	2	4	4			TCGA-G9-6343-01A-21D-1961-08	TCGA-G9-6343-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdb78cfc-4a29-488a-b215-a4996b3ab873	e4bf7fcc-99b3-4e83-8336-2caacc77a011	g.chr2:50850692T>C	ENST00000406316.2	-	6	2370	c.894A>G	c.(892-894)caA>caG	p.Q298Q	NRXN1_ENST00000406859.3_Silent_p.Q298Q|NRXN1_ENST00000405472.3_Silent_p.Q298Q|NRXN1_ENST00000401669.2_Silent_p.Q298Q|NRXN1_ENST00000402717.3_Silent_p.Q298Q|NRXN1_ENST00000331040.5_5'UTR|NRXN1_ENST00000404971.1_Silent_p.Q331Q	NM_004801.4	NP_004792.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	298	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				adult behavior (GO:0030534)|axon guidance (GO:0007411)|calcium-dependent cell-cell adhesion (GO:0016339)|cerebellar granule cell differentiation (GO:0021707)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|gamma-aminobutyric acid receptor clustering (GO:0097112)|gephyrin clustering (GO:0097116)|guanylate kinase-associated protein clustering (GO:0097117)|heterophilic cell-cell adhesion (GO:0007157)|learning (GO:0007612)|N-methyl-D-aspartate receptor clustering (GO:0097114)|negative regulation of filopodium assembly (GO:0051490)|neuroligin clustering (GO:0097118)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|neuron maturation (GO:0042551)|neurotransmitter secretion (GO:0007269)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|receptor localization to synapse (GO:0097120)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic vesicle clustering (GO:0097091)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	axonal growth cone (GO:0044295)|cell junction (GO:0030054)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	acetylcholine receptor binding (GO:0033130)|calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|cell adhesion molecule binding (GO:0050839)|neuroligin family protein binding (GO:0097109)|receptor activity (GO:0004872)			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			GAATGGGGTTTTGAGACAAGT	0.378																																						ENST00000404971.1																			0				breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58						c.(991-993)caA>caG		neurexin 1							135	124	127					2																	50850692		1870	4094	5964	SO:0001819	synonymous_variant	9378				adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity	g.chr2:50850692T>C	AB011150	CCDS1845.1, CCDS46282.1, CCDS54360.1	2p16.3	2008-05-15			ENSG00000179915	ENSG00000179915			8008	protein-coding gene	gene with protein product		600565					Standard	NM_001135659		Approved	KIAA0578, Hs.22998	uc021vhj.1	P58400	OTTHUMG00000129263	ENST00000406316.2:c.894A>G	2.37:g.50850692T>C						NRXN1_ENST00000406859.3_Silent_p.Q298Q|NRXN1_ENST00000331040.5_5'UTR|NRXN1_ENST00000406316.2_Silent_p.Q298Q|NRXN1_ENST00000405472.3_Silent_p.Q298Q|NRXN1_ENST00000401669.2_Silent_p.Q298Q|NRXN1_ENST00000402717.3_Silent_p.Q298Q	p.Q331Q	NM_001135659.1	NP_001129131.1	Q9ULB1	NRX1A_HUMAN	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)		7	2332	-		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	298			Laminin G-like 2.		A7KRL9|O60323|Q53TJ9|Q53TQ1|Q9C079|Q9C080|Q9C081|Q9H3M2|Q9UDM6	Silent	SNP	ENST00000406316.2	37	c.993A>G	CCDS54360.1																																																																																				0.378	NRXN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000325291.2			7	105	0	0	0	0.00308	0	7	105					C	50850692	T	C	50850692	2	2	155	1	0	0	0	0	0	0	0	1	10665	1838	64	4		4	NRXN1	2	50850692	Silent	SNP	T	TCGA-G9-6343-01A-21D-1961-08		50850692	192348681	4	7541											
SPRED2	200734	broad.mit.edu	37	chr2	65540895	65540895	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccggcggatgcaagttctcaCggagtcgggcgcgtcctggc	5	7	16	13	6	1	0	1	0	1	0	4	2	2	2	2	5	1	2	2	5	1	1			TCGA-G9-6343-01A-21D-1961-08	TCGA-G9-6343-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdb78cfc-4a29-488a-b215-a4996b3ab873	e4bf7fcc-99b3-4e83-8336-2caacc77a011	g.chr2:65540895C>T	ENST00000356388.4	-	6	1186	c.997G>A	c.(997-999)Gtg>Atg	p.V333M	SPRED2_ENST00000443619.2_Missense_Mutation_p.V330M|SPRED2_ENST00000474228.1_5'Flank	NM_181784.2	NP_861449.2	Q7Z698	SPRE2_HUMAN	sprouty-related, EVH1 domain containing 2	333	SPR. {ECO:0000255|PROSITE- ProRule:PRU00572}.				inactivation of MAPK activity (GO:0000188)|multicellular organismal development (GO:0007275)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|regulation of protein deacetylation (GO:0090311)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|protein serine/threonine kinase inhibitor activity (GO:0030291)|stem cell factor receptor binding (GO:0005173)			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(7)|ovary(2)|upper_aerodigestive_tract(3)	34						CAAGTTCTCACGGAGTCGGGC	0.637																																						ENST00000356388.4																			0				breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(7)|ovary(2)|upper_aerodigestive_tract(3)	34						c.(997-999)Gtg>Atg		sprouty-related, EVH1 domain containing 2							87	84	85					2																	65540895		2203	4300	6503	SO:0001583	missense	200734				inactivation of MAPK activity|multicellular organismal development	transport vesicle membrane	stem cell factor receptor binding	g.chr2:65540895C>T	AF052178	CCDS33211.1, CCDS46308.1	2p14	2003-06-02			ENSG00000198369	ENSG00000198369			17722	protein-coding gene	gene with protein product		609292					Standard	NM_181784		Approved	Spred-2, FLJ21897, FLJ31917	uc002sdr.4	Q7Z698	OTTHUMG00000152737	ENST00000356388.4:c.997G>A	2.37:g.65540895C>T	ENSP00000348753:p.Val333Met					SPRED2_ENST00000443619.2_Missense_Mutation_p.V330M	p.V333M	NM_181784.2	NP_861449.2	Q7Z698	SPRE2_HUMAN			6	1186	-			333			SPR.		A1L3V4|B7Z5K7|D6W5F7|E9PEP0|Q2NKX6	Missense_Mutation	SNP	ENST00000356388.4	37	c.997G>A	CCDS33211.1	.	.	.	.	.	.	.	.	.	.	C	19.64	3.865126	0.71949	.	.	ENSG00000198369	ENST00000356388;ENST00000443619;ENST00000452315;ENST00000421087	T;T;T;T	0.65549	-0.16;-0.16;-0.16;-0.16	5.75	4.69	0.59074	.	0.253441	0.40302	N	0.001129	T	0.68384	0.2995	L	0.43152	1.355	0.44395	D	0.997309	P;D	0.63046	0.683;0.992	B;P	0.59546	0.311;0.859	T	0.67891	-0.5553	10	0.46703	T	0.11	-19.561	14.6057	0.68478	0.0:0.8783:0.0:0.1217	.	330;333	E9PEP0;Q7Z698	.;SPRE2_HUMAN	M	333;330;348;215	ENSP00000348753:V333M;ENSP00000393697:V330M;ENSP00000390595:V348M;ENSP00000407627:V215M	ENSP00000348753:V333M	V	-	1	0	SPRED2	65394399	0.993000	0.37304	1.000000	0.80357	0.998000	0.95712	2.142000	0.42177	2.716000	0.92895	0.655000	0.94253	GTG		0.637	SPRED2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000327632.1			6	157	0	0	0	0.001168	0	6	157					T	65540895	C	T	65540895	3	4	155	1	0	0	0	0	1	0	0	0	15092	536	19	1	263	1	SPRED2	2	65540895	Missense_Mutation	SNP	C	TCGA-G9-6343-01A-21D-1961-08	14690203	65540895	177658478	5	7542											
CCDC108	255101	broad.mit.edu	37	chr2	219892530	219892530	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttcgcgtccagaccaccaTgatcttgcccttggtgtggt	5	12	10	14	2	1	2	0	1	1	1	3	2	2	2	5	2	1	0	5	2	0	3			TCGA-G9-6343-01A-21D-1961-08	TCGA-G9-6343-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdb78cfc-4a29-488a-b215-a4996b3ab873	e4bf7fcc-99b3-4e83-8336-2caacc77a011	g.chr2:219892530T>C	ENST00000341552.5	-	13	2136	c.2053A>G	c.(2053-2055)Atg>Gtg	p.M685V	CCDC108_ENST00000453220.1_Missense_Mutation_p.M685V|CCDC108_ENST00000410037.1_Missense_Mutation_p.M620V|CCDC108_ENST00000441968.1_Missense_Mutation_p.M685V|CCDC108_ENST00000409865.3_Missense_Mutation_p.M674V	NM_194302.2	NP_919278.2	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108	685						integral component of membrane (GO:0016021)	poly(A) RNA binding (GO:0044822)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CAGACCACCATGATCTTGCCC	0.622																																						ENST00000341552.5																			0				autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80						c.(2053-2055)Atg>Gtg		coiled-coil domain containing 108							70	64	66					2																	219892530		2203	4300	6503	SO:0001583	missense	255101					integral to membrane	structural molecule activity	g.chr2:219892530T>C	NM_194302, AL833882, AK127189	CCDS2430.2, CCDS2431.2, CCDS63125.1, CCDS63126.1	2q35	2008-02-05			ENSG00000181378	ENSG00000181378			25325	protein-coding gene	gene with protein product		614270				12477932	Standard	NM_194302		Approved	DKFZp434O0527, MGC35338	uc002vjl.2	Q6ZU64	OTTHUMG00000133013	ENST00000341552.5:c.2053A>G	2.37:g.219892530T>C	ENSP00000340776:p.Met685Val					CCDC108_ENST00000410037.1_Missense_Mutation_p.M620V|CCDC108_ENST00000441968.1_Missense_Mutation_p.M685V|CCDC108_ENST00000409865.3_Missense_Mutation_p.M674V|CCDC108_ENST00000453220.1_Missense_Mutation_p.M685V	p.M685V	NM_194302.2	NP_919278.2	Q6ZU64	CC108_HUMAN		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	13	2136	-		Renal(207;0.0915)	685					A2BDD8|E9PCR1|E9PG25|E9PG72|Q6ZSR8|Q8N0T4|Q8NDJ3	Missense_Mutation	SNP	ENST00000341552.5	37	c.2053A>G	CCDS2430.2	.	.	.	.	.	.	.	.	.	.	T	7.429	0.638309	0.14386	.	.	ENSG00000181378	ENST00000341552;ENST00000441968;ENST00000453220;ENST00000545086;ENST00000409865;ENST00000410037;ENST00000441164	T;T;T;T;T	0.06142	3.67;3.67;3.67;3.34;3.36	5.18	5.18	0.71444	.	0.358775	0.20948	N	0.082804	T	0.03095	0.0091	N	0.03608	-0.345	0.80722	D	1	B;B;B	0.10296	0.002;0.002;0.003	B;B;B	0.10450	0.001;0.005;0.005	T	0.51710	-0.8671	10	0.23891	T	0.37	-11.0456	9.6549	0.39919	0.0:0.0772:0.0:0.9228	.	674;619;685	E9PG25;B4DYZ8;Q6ZU64	.;.;CC108_HUMAN	V	685;685;685;161;674;620;619	ENSP00000340776:M685V;ENSP00000413377:M685V;ENSP00000409117:M685V;ENSP00000386945:M674V;ENSP00000386258:M620V	ENSP00000340776:M685V	M	-	1	0	CCDC108	219600774	1.000000	0.71417	0.974000	0.42286	0.493000	0.33554	2.642000	0.46596	2.172000	0.68678	0.533000	0.62120	ATG		0.622	CCDC108-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256598.4	NM_194302		13	47	0	0	0	0.001368	0	13	47					C	219892530	T	C	219892530	3	2	155	1	0	0	0	0	1	0	0	0	2743	1464	51	4	3816	4	CCDC108	2	219892530	Missense_Mutation	SNP	T	TCGA-G9-6343-01A-21D-1961-08	154351635	219892530	23306843	6	7543											
PIK3CA	5290	broad.mit.edu	37	chr3	178952050	178952050	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gataaaactgagcaagaggcTttggagtatttcatgaaaca	16	10	10	5	0	1	3	1	2	0	1	1	5	1	4	0	2	3	3	0	2	5	4			TCGA-G9-6343-01A-21D-1961-08	TCGA-G9-6343-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdb78cfc-4a29-488a-b215-a4996b3ab873	e4bf7fcc-99b3-4e83-8336-2caacc77a011	g.chr3:178952050T>G	ENST00000263967.3	+	21	3262	c.3105T>G	c.(3103-3105)gcT>gcG	p.A1035A	RP11-245C23.3_ENST00000609807.1_RNA	NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	1035	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.		A -> V (in MCAP; also found in an endometrial carcinoma sample). {ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:22729224}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)			NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	AGCAAGAGGCTTTGGAGTATT	0.393		57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	ENST00000263967.3		57		Dom	yes		3	3q26.3	5290	Mis	"phosphoinositide-3-kinase, catalytic, alpha polypeptide"			"E, O"			"colorectal, gastric, gliobastoma, breast"		0				NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269						c.(3103-3105)gcT>gcG		phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha							96	85	88					3																	178952050		1888	4127	6015	SO:0001819	synonymous_variant	5290				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	g.chr3:178952050T>G		CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"phosphoinositide-3-kinase, catalytic, alpha polypeptide"			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.3105T>G	3.37:g.178952050T>G		HNSCC(19;0.045)|TSP Lung(28;0.18)					p.A1035A	NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		21	3262	+	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		1035		A -> V (in cancer).	PI3K/PI4K.		Q14CW1|Q99762	Silent	SNP	ENST00000263967.3	37	c.3105T>G	CCDS43171.1																																																																																				0.393	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2			4	40	0	0	0	0.000248	0	4	40					G	178952050	T	G	178952050	2	3	155	1	0	0	0	0	0	0	0	1	11913	1596	56	5		5	PIK3CA	3	178952050	Silent	SNP	T	TCGA-G9-6343-01A-21D-1961-08		178952050	19070380	7	7544											
GUF1	60558	broad.mit.edu	37	chr4	44692859	44692859	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccagatgaatacactggaaaAataatgatgctttgcgaggt	15	10	10	6	1	0	3	0	2	0	1	0	5	0	4	1	2	3	1	1	2	5	3			TCGA-G9-6343-01A-21D-1961-08	TCGA-G9-6343-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdb78cfc-4a29-488a-b215-a4996b3ab873	e4bf7fcc-99b3-4e83-8336-2caacc77a011	g.chr4:44692859A>C	ENST00000281543.5	+	12	1655	c.1461A>C	c.(1459-1461)aaA>aaC	p.K487N	GUF1_ENST00000506793.1_3'UTR	NM_021927.2	NP_068746.2			GUF1 GTPase homolog (S. cerevisiae)											breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	19						ACACTGGAAAAATAATGATGC	0.318																																						ENST00000281543.5																			0				breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	19						c.(1459-1461)aaA>aaC		GUF1 GTPase homolog (S. cerevisiae)							72	75	74					4																	44692859		2203	4297	6500	SO:0001583	missense	60558				translation	mitochondrial inner membrane	GTP binding|GTPase activity	g.chr4:44692859A>C		CCDS3468.1	4p13	2006-02-16			ENSG00000151806	ENSG00000151806			25799	protein-coding gene	gene with protein product						8553703	Standard	NM_021927		Approved	FLJ13220	uc003gww.4	Q8N442	OTTHUMG00000128608	ENST00000281543.5:c.1461A>C	4.37:g.44692859A>C	ENSP00000281543:p.Lys487Asn					GUF1_ENST00000506793.1_3'UTR	p.K487N	NM_021927.2	NP_068746.2	Q8N442	GUF1_HUMAN			12	1655	+			487						Missense_Mutation	SNP	ENST00000281543.5	37	c.1461A>C	CCDS3468.1	.	.	.	.	.	.	.	.	.	.	A	12.97	2.098070	0.37048	.	.	ENSG00000151806	ENST00000281543	T	0.64085	-0.08	5.68	5.68	0.88126	Elongation factor G/III/V (1);Translation elongation factor EFG/EF2, C-terminal (3);	0.041568	0.85682	D	0.000000	T	0.55065	0.1897	N	0.11106	0.095	0.58432	D	0.999999	P	0.45672	0.864	P	0.51079	0.658	T	0.61068	-0.7137	10	0.46703	T	0.11	-12.3665	15.0989	0.72256	1.0:0.0:0.0:0.0	.	487	Q8N442	GUF1_HUMAN	N	487	ENSP00000281543:K487N	ENSP00000281543:K487N	K	+	3	2	GUF1	44387616	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	4.887000	0.63156	2.162000	0.67917	0.459000	0.35465	AAA		0.318	GUF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250469.3	NM_021927		8	87	0	0	0	0.006214	0	8	87					C	44692859	A	C	44692859	3	2	155	1	0	0	0	0	1	0	0	0	6899	11	1	5	1507	5	GUF1	4	44692859	Missense_Mutation	SNP	A	TCGA-G9-6343-01A-21D-1961-08		44692859	146461417	8	7545											
ADH1C	126	broad.mit.edu	37	chr4	100273819	100273819	+	RNA	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tatattttttgcttacttttCctgctgtgctcatattgatt	6	23	5	7	0	1	1	1	1	0	0	2	1	2	1	1	0	4	3	1	0	4	11			TCGA-G9-6343-01A-21D-1961-08	TCGA-G9-6343-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdb78cfc-4a29-488a-b215-a4996b3ab873	e4bf7fcc-99b3-4e83-8336-2caacc77a011	g.chr4:100273819C>T	ENST00000510055.1	-	0	68				ADH1C_ENST00000515683.1_RNA			P00326	ADH1G_HUMAN	alcohol dehydrogenase 1C (class I), gamma polypeptide						ethanol oxidation (GO:0006069)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	alcohol dehydrogenase (NAD) activity (GO:0004022)|zinc ion binding (GO:0008270)								OV - Ovarian serous cystadenocarcinoma(123;1.08e-07)	Ethanol(DB00898)|Fomepizole(DB01213)	GCTTACTTTTCCTGCTGTGCT	0.313																																						ENST00000510055.1																			0													alcohol dehydrogenase 1C (class I), gamma polypeptide	Fomepizole(DB01213)|NADH(DB00157)						129	125	126					4																	100273819		2203	4300	6503			126				ethanol oxidation|xenobiotic metabolic process	cytosol	alcohol dehydrogenase (NAD) activity|zinc ion binding	g.chr4:100273819C>T	M12272		4q23	2010-03-16			ENSG00000248144	ENSG00000248144	1.1.1.1	"Alcohol dehydrogenases"	251	protein-coding gene	gene with protein product		103730		ADH3		3006456	Standard	NM_000669		Approved		uc031sgp.1	P00326	OTTHUMG00000161422		4.37:g.100273819C>T						ADH1C_ENST00000515683.1_RNA				P00326	ADH1G_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;1.08e-07)	0	68	-								Q4PJ18|Q5WRV0|Q6LBW4|Q6NWV0|Q6NZA7	RNA	SNP	ENST00000510055.1	37																																																																																						0.313	ADH1C-004	KNOWN	mRNA_end_NF|basic	processed_transcript	polymorphic_pseudogene	OTTHUMT00000365189.2	NM_000669		12	86	0	0	0	0.001368	0	12	86					T	100273819	C	T	100273819	1	4	155	0	1	0	0	0	0	0	0	0	309	855	30	3		3	ADH1C	4	100273819	RNA	SNP	C	TCGA-G9-6343-01A-21D-1961-08	55580960	100273819	90880457	9	7546											
ETFDH	2110	broad.mit.edu	37	chr4	159601637	159601637	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	agcatatcagtgctttcatgCcttaaaaattaagaaaaatt	17	13	5	6	0	2	1	2	0	0	1	2	1	2	1	1	0	3	2	1	0	7	5			TCGA-G9-6343-01A-21D-1961-08	TCGA-G9-6343-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdb78cfc-4a29-488a-b215-a4996b3ab873	e4bf7fcc-99b3-4e83-8336-2caacc77a011	g.chr4:159601637C>T	ENST00000511912.1	+	2	385	c.53C>T	c.(52-54)gCc>gTc	p.A18V	ETFDH_ENST00000307738.5_Intron	NM_001281738.1|NM_004453.2	NP_001268667.1|NP_004444.2	Q16134	ETFD_HUMAN	electron-transferring-flavoprotein dehydrogenase	18					cellular metabolic process (GO:0044237)|electron transport chain (GO:0022900)|fatty acid beta-oxidation using acyl-CoA dehydrogenase (GO:0033539)|respiratory electron transport chain (GO:0022904)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)	integral component of mitochondrial inner membrane (GO:0031305)|mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)	4 iron, 4 sulfur cluster binding (GO:0051539)|electron carrier activity (GO:0009055)|electron-transferring-flavoprotein dehydrogenase activity (GO:0004174)|flavin adenine dinucleotide binding (GO:0050660)|metal ion binding (GO:0046872)|oxidoreductase activity (GO:0016491)|oxidoreductase activity, oxidizing metal ions with flavin as acceptor (GO:0043783)|quinone binding (GO:0048038)|ubiquinone binding (GO:0048039)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|prostate(1)|skin(3)	28	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0172)		TGCTTTCATGCCTTAAAAATT	0.318																																						ENST00000511912.1																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|prostate(1)|skin(3)	28						c.(52-54)gCc>gTc		electron-transferring-flavoprotein dehydrogenase							81	76	77					4																	159601637		2203	4300	6503	SO:0001583	missense	2110				fatty acid beta-oxidation using acyl-CoA dehydrogenase|respiratory electron transport chain|response to oxidative stress|transport	integral to mitochondrial inner membrane|mitochondrial matrix	4 iron, 4 sulfur cluster binding|electron carrier activity|electron-transferring-flavoprotein dehydrogenase activity|flavin adenine dinucleotide binding|metal ion binding|oxidoreductase activity, oxidizing metal ions with flavin as acceptor|ubiquinone binding	g.chr4:159601637C>T	S69232	CCDS3800.1, CCDS64090.1	4q32-q35	2008-08-26			ENSG00000171503	ENSG00000171503			3483	protein-coding gene	gene with protein product		231675					Standard	NM_004453		Approved	ETFQO	uc003iqb.3	Q16134	OTTHUMG00000161684	ENST00000511912.1:c.53C>T	4.37:g.159601637C>T	ENSP00000426638:p.Ala18Val					ETFDH_ENST00000307738.5_Intron	p.A18V	NM_004453.2	NP_004444.2	Q16134	ETFD_HUMAN		COAD - Colon adenocarcinoma(41;0.0172)	2	385	+	all_hematologic(180;0.24)	Renal(120;0.0458)	18					B4E3R9|J3KND9|Q7Z347	Missense_Mutation	SNP	ENST00000511912.1	37	c.53C>T	CCDS3800.1	.	.	.	.	.	.	.	.	.	.	C	14.96	2.690017	0.48097	.	.	ENSG00000171503	ENST00000511912	D	0.97232	-4.3	5.63	4.79	0.61399	.	0.252357	0.46145	D	0.000309	D	0.92880	0.7735	L	0.36672	1.1	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	D	0.88144	0.2846	10	0.30078	T	0.28	0.1293	6.5905	0.22644	0.1464:0.7039:0.0:0.1497	.	18	Q16134	ETFD_HUMAN	V	18	ENSP00000426638:A18V	ENSP00000426638:A18V	A	+	2	0	ETFDH	159821087	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.201000	0.42734	1.525000	0.49052	0.591000	0.81541	GCC		0.318	ETFDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365718.2			5	33	0	0	0	0.000602	0	5	33					T	159601637	C	T	159601637	3	4	155	1	0	0	0	0	1	0	0	0	5271	739	26	3	59	3	ETFDH	4	159601637	Missense_Mutation	SNP	C	TCGA-G9-6343-01A-21D-1961-08	59327818	159601637	31552639	10	7547											
APBB3	10307	broad.mit.edu	37	chr5	139940031	139940031	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggtcgcggccaacaccaataAatgtcacaaggcgcacaggg	13	4	12	12	3	1	0	1	0	0	0	2	0	1	0	2	4	1	1	2	4	5	1			TCGA-G9-6343-01A-21D-1961-08	TCGA-G9-6343-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdb78cfc-4a29-488a-b215-a4996b3ab873	e4bf7fcc-99b3-4e83-8336-2caacc77a011	g.chr5:139940031A>C	ENST00000357560.4	-	12	1534	c.1091T>G	c.(1090-1092)tTt>tGt	p.F364C	APBB3_ENST00000354402.5_Missense_Mutation_p.F371C|APBB3_ENST00000412920.3_Missense_Mutation_p.F362C|APBB3_ENST00000507279.1_5'Flank|APBB3_ENST00000356738.2_Missense_Mutation_p.F369C|SRA1_ENST00000520427.1_5'Flank|SRA1_ENST00000336283.6_5'Flank|APBB3_ENST00000358580.5_Missense_Mutation_p.I325M|APBB3_ENST00000508496.2_Missense_Mutation_p.F141C|APBB3_ENST00000511201.2_Missense_Mutation_p.I323M	NM_006051.3|NM_133173.2	NP_006042.3|NP_573419.2	O95704	APBB3_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 3	364	PID 2. {ECO:0000255|PROSITE- ProRule:PRU00148}.					actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)	11			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AACACCAATAAATGTCACAAG	0.632																																						ENST00000357560.4																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)	11						c.(1090-1092)tTt>tGt		amyloid beta (A4) precursor protein-binding, family B, member 3							55	42	46					5																	139940031		2203	4300	6503	SO:0001583	missense	10307					actin cytoskeleton|cytoplasm		g.chr5:139940031A>C	AB018247	CCDS4227.1, CCDS4228.1, CCDS4229.1, CCDS47279.1	5q31	2008-02-05			ENSG00000113108	ENSG00000113108			20708	protein-coding gene	gene with protein product		602711				9407065	Standard	NM_133172		Approved	FE65L2	uc003lgd.1	O95704	OTTHUMG00000129504	ENST00000357560.4:c.1091T>G	5.37:g.139940031A>C	ENSP00000350171:p.Phe364Cys					APBB3_ENST00000412920.3_Missense_Mutation_p.F362C|APBB3_ENST00000354402.5_Missense_Mutation_p.F371C|APBB3_ENST00000511201.2_Missense_Mutation_p.I323M|APBB3_ENST00000358580.5_Missense_Mutation_p.I325M|APBB3_ENST00000356738.2_Missense_Mutation_p.F369C|APBB3_ENST00000508496.2_Missense_Mutation_p.F141C	p.F364C	NM_006051.3|NM_133173.2	NP_006042.3|NP_573419.2	O95704	APBB3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		12	1534	-			364			PID 2.		B3KQN9|Q08AG4|Q96Q18|Q9BYD4|Q9NYX6|Q9NYX7|Q9NYX8	Missense_Mutation	SNP	ENST00000357560.4	37	c.1091T>G	CCDS4229.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	14.64|14.64	2.594715|2.594715	0.46318|0.46318	.|.	.|.	ENSG00000113108|ENSG00000113108	ENST00000356738;ENST00000354402;ENST00000357560;ENST00000508496;ENST00000412920|ENST00000358580;ENST00000511201	T;T;T;T;T|T;T	0.29397|0.25250	1.57;1.57;1.57;1.57;1.57|1.81;1.81	5.28|5.28	5.28|5.28	0.74379|0.74379	.|.	0.051045|.	0.85682|.	D|.	0.000000|.	T|T	0.31544|0.31544	0.0800|0.0800	M|M	0.73430|0.73430	2.235|2.235	0.35260|0.35260	D|D	0.779504|0.779504	D;D|B	0.89917|0.18461	1.0;1.0|0.028	D;D|B	0.97110|0.13407	1.0;1.0|0.009	T|T	0.34601|0.34601	-0.9822|-0.9822	9|8	.|.	.|.	.|.	-11.6344|-11.6344	15.2065|15.2065	0.73183|0.73183	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	362;369|323	O95704-2;O95704-3|D6RBA1	.;.|.	C|M	369;371;364;141;362|325;323	ENSP00000349177:F369C;ENSP00000346378:F371C;ENSP00000350171:F364C;ENSP00000444013:F141C;ENSP00000402591:F362C|ENSP00000351389:I325M;ENSP00000424317:I323M	.|.	F|I	-|-	2|3	0|3	APBB3|APBB3	139920215|139920215	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	9.191000|9.191000	0.94940|0.94940	1.997000|1.997000	0.58415|0.58415	0.533000|0.533000	0.62120|0.62120	TTT|ATT		0.632	APBB3-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251677.2	NM_006051		4	41	0	0	0	0.000248	0	4	41					C	139940031	A	C	139940031	3	2	155	1	0	0	0	0	1	0	0	0	762	14	1	5	377	5	APBB3	5	139940031	Missense_Mutation	SNP	A	TCGA-G9-6343-01A-21D-1961-08		139940031	40975229	11	7548											
PPP1R14C	81706	broad.mit.edu	37	chr6	150569956	150569956	+	Nonstop_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgcagaagaagagtgtatgAttctggaacagggtgaaact	14	8	13	6	1	1	5	0	2	1	3	1	6	1	6	1	2	2	2	1	2	5	2			TCGA-G9-6343-01A-21D-1961-08	TCGA-G9-6343-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdb78cfc-4a29-488a-b215-a4996b3ab873	e4bf7fcc-99b3-4e83-8336-2caacc77a011	g.chr6:150569956A>C	ENST00000361131.4	+	4	615	c.498A>C	c.(496-498)tgA>tgC	p.*166C		NM_030949.2	NP_112211.1	Q8TAE6	PP14C_HUMAN	protein phosphatase 1, regulatory (inhibitor) subunit 14C	0					regulation of phosphorylation (GO:0042325)	cytoplasm (GO:0005737)|membrane (GO:0016020)	protein serine/threonine phosphatase inhibitor activity (GO:0004865)			endometrium(1)|large_intestine(1)|prostate(1)	3		Ovarian(120;0.0284)	BRCA - Breast invasive adenocarcinoma(37;0.215)	OV - Ovarian serous cystadenocarcinoma(155;9.14e-12)		AGAGTGTATGATTCTGGAACA	0.413																																					Melanoma(165;1879 1941 2052 16588 48349)	ENST00000361131.4																			0				endometrium(1)|large_intestine(1)|prostate(1)	3						c.(496-498)tgA>tgC		protein phosphatase 1, regulatory (inhibitor) subunit 14C							46	47	47					6																	150569956		2203	4300	6503	SO:0001578	stop_lost	81706				regulation of phosphorylation	cytoplasm|membrane		g.chr6:150569956A>C	AF308297	CCDS5226.1	6q24.3-q25.3	2012-04-17			ENSG00000198729	ENSG00000198729		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	14952	protein-coding gene	gene with protein product	"kinase C-enhanced PP1 inhibitor"	613242				11948623	Standard	NM_030949		Approved	CPI17-like, NY-BR-81, KEPI	uc003qnt.3	Q8TAE6	OTTHUMG00000015818	ENST00000361131.4:c.498A>C	6.37:g.150569956A>C	ENSP00000355260:p.*166Cysext*21						p.*166C	NM_030949.2	NP_112211.1	Q8TAE6	PP14C_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.215)	OV - Ovarian serous cystadenocarcinoma(155;9.14e-12)	4	615	+		Ovarian(120;0.0284)	0					Q5VY83|Q96BB1|Q9H277	Nonstop_Mutation	SNP	ENST00000361131.4	37	c.498A>C	CCDS5226.1	.	.	.	.	.	.	.	.	.	.	A	15.88	2.962734	0.53507	.	.	ENSG00000198729	ENST00000361131	.	.	.	5.62	5.62	0.85841	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.8258	0.78706	1.0:0.0:0.0:0.0	.	.	.	.	C	166	.	.	X	+	3	0	PPP1R14C	150611649	1.000000	0.71417	0.641000	0.29422	0.924000	0.55760	6.505000	0.73708	2.133000	0.65898	0.528000	0.53228	TGA		0.413	PPP1R14C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042685.1	NM_030949		4	33	0	0	0	0.000602	0	4	33					C	150569956	A	C	150569956	4	2	155	1	0	0	0	0	0	0	0	0	12361	346	12	5	512	5	PPP1R14C	6	150569956	Nonstop_Mutation	SNP	A	TCGA-G9-6343-01A-21D-1961-08		150569956	20545111	12	7549											
AMZ1	155185	broad.mit.edu	37	chr7	2748832	2748832	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ggcccccctgcaggacagggGctgggccctgtgcttcagtg	4	7	16	14	0	1	0	1	0	0	0	1	1	1	1	4	5	2	3	4	5	0	1			TCGA-G9-6343-01A-21D-1961-08	TCGA-G9-6343-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdb78cfc-4a29-488a-b215-a4996b3ab873	e4bf7fcc-99b3-4e83-8336-2caacc77a011	g.chr7:2748832G>A	ENST00000312371.4	+	5	1093	c.725G>A	c.(724-726)gGc>gAc	p.G242D	AMZ1_ENST00000407112.1_Intron|AMZ1_ENST00000489665.1_Intron	NM_133463.1	NP_597720.1	Q400G9	AMZ1_HUMAN	archaelysin family metallopeptidase 1	242							metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(2)|kidney(1)|large_intestine(4)|lung(8)|skin(1)	16		Ovarian(82;0.0779)		OV - Ovarian serous cystadenocarcinoma(56;5.03e-14)		CAGGACAGGGGCTGGGCCCTG	0.687																																						ENST00000312371.4																			0				breast(2)|kidney(1)|large_intestine(4)|lung(8)|skin(1)	16						c.(724-726)gGc>gAc		archaelysin family metallopeptidase 1							15	19	17					7																	2748832		2198	4289	6487	SO:0001583	missense	155185						metallopeptidase activity|zinc ion binding	g.chr7:2748832G>A	AB075830	CCDS34589.1, CCDS64582.1	7p22.3	2008-01-17			ENSG00000174945	ENSG00000174945			22231	protein-coding gene	gene with protein product	"archaemetzincin-1"	615168				15972818	Standard	NM_133463		Approved	KIAA1950	uc003smr.1	Q400G9	OTTHUMG00000152111	ENST00000312371.4:c.725G>A	7.37:g.2748832G>A	ENSP00000308149:p.Gly242Asp					AMZ1_ENST00000489665.1_Intron|AMZ1_ENST00000407112.1_Intron	p.G242D	NM_133463.1	NP_597720.1	Q400G9	AMZ1_HUMAN		OV - Ovarian serous cystadenocarcinoma(56;5.03e-14)	5	1093	+		Ovarian(82;0.0779)	242					B3KRS0|Q8TF51	Missense_Mutation	SNP	ENST00000312371.4	37	c.725G>A	CCDS34589.1	.	.	.	.	.	.	.	.	.	.	G	11.66	1.705264	0.30232	.	.	ENSG00000174945	ENST00000312371	T	0.22336	1.96	4.55	2.28	0.28536	.	0.293110	0.31697	N	0.007212	T	0.09069	0.0224	N	0.19112	0.55	0.19300	N	0.99998	B	0.12013	0.005	B	0.09377	0.004	T	0.32402	-0.9908	10	0.08179	T	0.78	-38.549	4.0908	0.09968	0.4462:0.0:0.5538:0.0	.	242	Q400G9	AMZ1_HUMAN	D	242	ENSP00000308149:G242D	ENSP00000308149:G242D	G	+	2	0	AMZ1	2715358	0.077000	0.21312	0.037000	0.18230	0.965000	0.64279	1.549000	0.36212	1.038000	0.40049	0.462000	0.41574	GGC		0.687	AMZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325244.1	NM_133463		5	35	0	0	0	0.001168	0	5	35					A	2748832	G	A	2748832	3	1	155	1	0	0	0	0	1	0	0	0	596	1203	42	3	739	3	AMZ1	7	2748832	Missense_Mutation	SNP	G	TCGA-G9-6343-01A-21D-1961-08		2748832	156389831	13	7550											
SP4	6671	broad.mit.edu	37	chr7	21521732	21521732	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agctccagagacatagaagaAcccatacaggttagttgatt	15	9	9	8	0	0	4	0	1	0	3	1	5	1	4	2	1	3	3	2	1	5	5			TCGA-G9-6343-01A-21D-1961-08	TCGA-G9-6343-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdb78cfc-4a29-488a-b215-a4996b3ab873	e4bf7fcc-99b3-4e83-8336-2caacc77a011	g.chr7:21521732A>G	ENST00000222584.3	+	5	2316	c.2098A>G	c.(2098-2100)Acc>Gcc	p.T700A		NM_003112.3	NP_003103.2	Q02446	SP4_HUMAN	Sp4 transcription factor	700					regulation of heart contraction (GO:0008016)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(11)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	35						ACATAGAAGAACCCATACAGG	0.348																																						ENST00000222584.3																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(11)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	35						c.(2098-2100)Acc>Gcc		Sp4 transcription factor							112	109	110					7																	21521732		2203	4300	6503	SO:0001583	missense	6671				regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|transcription coactivator activity|zinc ion binding	g.chr7:21521732A>G		CCDS5373.1	7p15	2013-01-08			ENSG00000105866	ENSG00000105866		"Specificity protein transcription factors", "Zinc fingers, C2H2-type"	11209	protein-coding gene	gene with protein product		600540				1454515	Standard	XM_005249828		Approved	SPR-1, HF1B, MGC130008, MGC130009	uc003sva.3	Q02446	OTTHUMG00000094801	ENST00000222584.3:c.2098A>G	7.37:g.21521732A>G	ENSP00000222584:p.Thr700Ala						p.T700A	NM_003112.3	NP_003103.2	Q02446	SP4_HUMAN			5	2316	+			700					O60402|Q32M52	Missense_Mutation	SNP	ENST00000222584.3	37	c.2098A>G	CCDS5373.1	.	.	.	.	.	.	.	.	.	.	A	21.9	4.213547	0.79352	.	.	ENSG00000105866	ENST00000222584	T	0.41065	1.01	5.87	4.69	0.59074	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.053506	0.85682	D	0.000000	T	0.56543	0.1992	L	0.45744	1.44	0.80722	D	1	D	0.71674	0.998	D	0.83275	0.996	T	0.58200	-0.7678	10	0.87932	D	0	.	12.2788	0.54753	0.8727:0.0:0.0:0.1273	.	700	Q02446	SP4_HUMAN	A	700	ENSP00000222584:T700A	ENSP00000222584:T700A	T	+	1	0	SP4	21488257	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.339000	0.96797	1.006000	0.39211	0.482000	0.46254	ACC		0.348	SP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211617.2	NM_003112		6	66	0	0	0	0.001984	0	6	66					G	21521732	A	G	21521732	3	3	155	1	0	0	0	0	1	0	0	0	14966	43	2	4	2116	4	SP4	7	21521732	Missense_Mutation	SNP	A	TCGA-G9-6343-01A-21D-1961-08	18772900	21521732	137616931	14	7551											
ZNF394	84124	broad.mit.edu	37	chr7	99096409	99096409	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tccctccgtgctgggtccagGcgctcccactcctcccaggt	3	9	10	19	2	0	0	0	0	0	0	6	0	6	0	6	3	1	2	6	3	0	0			TCGA-G9-6343-01A-21D-1961-08	TCGA-G9-6343-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdb78cfc-4a29-488a-b215-a4996b3ab873	e4bf7fcc-99b3-4e83-8336-2caacc77a011	g.chr7:99096409G>A	ENST00000337673.6	-	2	716	c.513C>T	c.(511-513)cgC>cgT	p.R171R	ZNF394_ENST00000426306.2_Intron|ZNF789_ENST00000493485.1_Intron|ZNF394_ENST00000394177.3_5'UTR|ZNF789_ENST00000494186.1_Intron	NM_032164.2	NP_115540.2	Q53GI3	ZN394_HUMAN	zinc finger protein 394	171	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(5)|stomach(1)|urinary_tract(1)	16	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)					CTGGGTCCAGGCGCTCCCACT	0.582																																					Ovarian(24;589 697 9939 12704 40742)	ENST00000337673.6																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(5)|stomach(1)|urinary_tract(1)	16						c.(511-513)cgC>cgT		zinc finger protein 394							116	90	98					7																	99096409		2203	4300	6503	SO:0001819	synonymous_variant	84124				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr7:99096409G>A	BC025241	CCDS5666.1	7q22.1	2014-01-28			ENSG00000160908	ENSG00000160908		"Zinc fingers, C2H2-type", "-", "-", "-"	18832	protein-coding gene	gene with protein product							Standard	NM_032164		Approved	ZKSCAN14, FLJ12298, ZSCAN46	uc003uqs.3	Q53GI3	OTTHUMG00000154660	ENST00000337673.6:c.513C>T	7.37:g.99096409G>A						ZNF789_ENST00000494186.1_Intron|ZNF394_ENST00000426306.2_Intron|ZNF394_ENST00000394177.3_5'UTR|ZNF789_ENST00000493485.1_Intron	p.R171R	NM_032164.2	NP_115540.2	Q53GI3	ZN394_HUMAN			2	716	-	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)		171			KRAB.		A4D281|Q05DA6|Q6P5X9|Q8TB27|Q9HA37|Q9UD51	Silent	SNP	ENST00000337673.6	37	c.513C>T	CCDS5666.1																																																																																				0.582	ZNF394-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336498.1	NM_032164		5	56	0	0	0	0.001168	0	5	56					A	99096409	G	A	99096409	2	1	155	1	0	0	0	0	0	0	0	1	17877	1190	42	3		3	ZNF394	7	99096409	Silent	SNP	G	TCGA-G9-6343-01A-21D-1961-08	77574677	99096409	60042254	15	7552											
RP1	6101	broad.mit.edu	37	chr8	55542773	55542773	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcctcttagatatttgccaaGttgagacctccttaaatatt	11	15	6	9	0	1	2	0	1	1	2	2	3	2	2	4	0	1	1	4	0	6	7			TCGA-G9-6343-01A-21D-1961-08	TCGA-G9-6343-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdb78cfc-4a29-488a-b215-a4996b3ab873	e4bf7fcc-99b3-4e83-8336-2caacc77a011	g.chr8:55542773G>A	ENST00000220676.1	+	4	6479	c.6331G>A	c.(6331-6333)Gtt>Att	p.V2111I		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	2111					axoneme assembly (GO:0035082)|cellular response to light stimulus (GO:0071482)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|photoreceptor cell outer segment organization (GO:0035845)|phototransduction, visible light (GO:0007603)|retinal cone cell development (GO:0046549)|retinal rod cell development (GO:0046548)|visual perception (GO:0007601)	axoneme (GO:0005930)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)	microtubule binding (GO:0008017)	p.V2111I(1)		NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			TATTTGCCAAGTTGAGACCTC	0.333																																					Colon(91;1014 1389 7634 14542 40420)	ENST00000220676.1																			1	Substitution - Missense(1)	p.V2111I(1)	lung(1)	NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169						c.(6331-6333)Gtt>Att		retinitis pigmentosa 1 (autosomal dominant)							52	57	55					8																	55542773		2203	4293	6496	SO:0001583	missense	6101				axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding	g.chr8:55542773G>A	AF146592	CCDS6160.1	8q12.1	2013-01-08				ENSG00000104237			10263	protein-coding gene	gene with protein product		603937				1783394	Standard	NM_006269		Approved	DCDC4A	uc003xsd.1	P56715		ENST00000220676.1:c.6331G>A	8.37:g.55542773G>A	ENSP00000220676:p.Val2111Ile						p.V2111I	NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)		4	6479	+		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	2111						Missense_Mutation	SNP	ENST00000220676.1	37	c.6331G>A	CCDS6160.1	.	.	.	.	.	.	.	.	.	.	G	13.23	2.173648	0.38413	.	.	ENSG00000104237	ENST00000220676	T	0.28255	1.62	5.43	2.51	0.30379	.	0.787203	0.10767	N	0.636511	T	0.21631	0.0521	L	0.34521	1.04	0.19300	N	0.999978	B	0.15141	0.012	B	0.15052	0.012	T	0.22591	-1.0212	10	0.45353	T	0.12	.	5.2408	0.15471	0.2424:0.2846:0.473:0.0	.	2111	P56715	RP1_HUMAN	I	2111	ENSP00000220676:V2111I	ENSP00000220676:V2111I	V	+	1	0	RP1	55705326	0.958000	0.32768	0.972000	0.41901	0.980000	0.70556	0.113000	0.15499	0.580000	0.29522	0.655000	0.94253	GTT		0.333	RP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378532.2	NM_006269		10	56	0	0	0	0.001368	0	10	56					A	55542773	G	A	55542773	3	1	155	1	0	0	0	0	1	0	0	0	13532	1029	36	3	6341	3	RP1	8	55542773	Missense_Mutation	SNP	G	TCGA-G9-6343-01A-21D-1961-08		55542773	90821249	16	7553											
GSDMC	56169	broad.mit.edu	37	chr8	130762274	130762274	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gataaagaatggggtcctttGggttaaaccatgcatggttt	11	13	12	5	0	0	1	0	0	0	1	1	2	1	1	2	4	2	3	2	4	5	4			TCGA-G9-6343-01A-21D-1961-08	TCGA-G9-6343-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdb78cfc-4a29-488a-b215-a4996b3ab873	e4bf7fcc-99b3-4e83-8336-2caacc77a011	g.chr8:130762274G>A	ENST00000276708.4	-	12	2056	c.1175C>T	c.(1174-1176)cCa>cTa	p.P392L		NM_031415.2	NP_113603.1	Q9BYG8	GSDMC_HUMAN	gasdermin C	392						cytoplasm (GO:0005737)|microtubule organizing center (GO:0005815)|mitochondrion (GO:0005739)				autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|pancreas(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	26						GGGGTCCTTTGGGTTAAACCA	0.448																																						ENST00000276708.4																			0				autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|pancreas(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	26						c.(1174-1176)cCa>cTa		gasdermin C							44	44	44					8																	130762274		2203	4300	6503	SO:0001583	missense	56169					mitochondrion		g.chr8:130762274G>A	AB042405	CCDS6360.1	8q24.21	2014-05-14	2008-07-31	2008-07-31	ENSG00000147697	ENSG00000147697			7151	protein-coding gene	gene with protein product		608384	"melanoma-derived leucine zipper, extra-nuclear factor"	MLZE		17350798	Standard	NM_031415		Approved		uc003ysr.3	Q9BYG8	OTTHUMG00000164851	ENST00000276708.4:c.1175C>T	8.37:g.130762274G>A	ENSP00000276708:p.Pro392Leu						p.P392L	NM_031415.2	NP_113603.1	Q9BYG8	GSDMC_HUMAN			12	2056	-			392					Q5XKF3|Q6P494	Missense_Mutation	SNP	ENST00000276708.4	37	c.1175C>T	CCDS6360.1	.	.	.	.	.	.	.	.	.	.	G	6.440	0.449342	0.12223	.	.	ENSG00000147697	ENST00000276708	T	0.17528	2.27	4.19	-4.53	0.03462	.	2.750870	0.01593	N	0.021683	T	0.03959	0.0111	N	0.00599	-1.345	0.09310	N	1	B	0.18461	0.028	B	0.18263	0.021	T	0.21415	-1.0246	10	0.25751	T	0.34	.	1.1179	0.01718	0.3521:0.2609:0.2546:0.1324	.	392	Q9BYG8	GSDMC_HUMAN	L	392	ENSP00000276708:P392L	ENSP00000276708:P392L	P	-	2	0	GSDMC	130831456	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.345000	0.07770	-1.203000	0.02652	-0.499000	0.04595	CCA		0.448	GSDMC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380586.1			4	17	0	0	0	0.000248	0	4	17					A	130762274	G	A	130762274	3	1	155	1	0	0	0	0	1	0	0	0	6818	1348	47	3	363	3	GSDMC	8	130762274	Missense_Mutation	SNP	G	TCGA-G9-6343-01A-21D-1961-08	75219501	130762274	15601748	17	7554											
TOPORS	10210	broad.mit.edu	37	chr9	32544153	32544154	+	Frame_Shift_Del	DEL	AG	AG	-																															ctcctgtacacagcgaaaacAgaacttatgtaagcagcgat																										TCGA-G9-6343-01A-21D-1961-08	TCGA-G9-6343-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdb78cfc-4a29-488a-b215-a4996b3ab873	e4bf7fcc-99b3-4e83-8336-2caacc77a011	g.chr9:32544153_32544154delAG	ENST00000360538.2	-	3	485_486	c.369_370delCT	c.(367-372)ttctgtfs	p.FC123fs	TOPORS_ENST00000379858.1_Frame_Shift_Del_p.FC58fs	NM_005802.4	NP_005793.2	Q9NS56	TOPRS_HUMAN	topoisomerase I binding, arginine/serine-rich, E3 ubiquitin protein ligase	123	E3 ubiquitin-protein ligase activity.|Required for DNA-binding.				cellular response to DNA damage stimulus (GO:0006974)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|maintenance of protein location in nucleus (GO:0051457)|negative regulation of apoptotic process (GO:0043066)|photoreceptor cell outer segment organization (GO:0035845)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K48-linked ubiquitination (GO:0070936)|protein localization to nucleus (GO:0034504)|protein monoubiquitination (GO:0006513)|protein sumoylation (GO:0016925)|regulation of cell proliferation (GO:0042127)|retina layer formation (GO:0010842)|retinal cone cell development (GO:0046549)|retinal rod cell development (GO:0046548)|transcription, DNA-templated (GO:0006351)|ubiquitin-dependent protein catabolic process (GO:0006511)	centriole (GO:0005814)|ciliary basal body (GO:0036064)|gamma-tubulin complex (GO:0000930)|midbody (GO:0030496)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|photoreceptor connecting cilium (GO:0032391)|PML body (GO:0016605)|spindle pole (GO:0000922)|ubiquitin ligase complex (GO:0000151)	antigen binding (GO:0003823)|DNA binding (GO:0003677)|DNA topoisomerase binding (GO:0044547)|SUMO ligase activity (GO:0019789)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			large_intestine(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.0018)		CAGCGAAAACAGAACTTATGTA	0.401																																						ENST00000360538.2																			0				large_intestine(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12						c.(367-372)ttgtfs		topoisomerase I binding, arginine/serine-rich, E3 ubiquitin protein ligase																																				SO:0001589	frameshift_variant	10210				DNA damage response, signal transduction resulting in induction of apoptosis|maintenance of protein location in nucleus|proteasomal ubiquitin-dependent protein catabolic process|protein sumoylation|transcription, DNA-dependent	nuclear speck|PML body	antigen binding|DNA binding|DNA topoisomerase I binding|SUMO ligase activity|ubiquitin-protein ligase activity|zinc ion binding	g.chr9:32544153_32544154delAG	AF098300	CCDS6527.1, CCDS56566.1	9p21	2013-01-09	2010-09-17		ENSG00000197579	ENSG00000197579		"RING-type (C3HC4) zinc fingers"	21653	protein-coding gene	gene with protein product		609507	"retinitis pigmentosa 31 (autosomal dominant)", "topoisomerase I binding, arginine/serine-rich"	RP31		10352183, 12083797, 17924349	Standard	NM_005802		Approved	TP53BPL, LUN	uc003zrb.3	Q9NS56	OTTHUMG00000019743	ENST00000360538.2:c.369_370delCT	9.37:g.32544153_32544154delAG	ENSP00000353735:p.Phe123fs					TOPORS_ENST00000379858.1_Frame_Shift_Del_p.FC58fs	p.FC123fs	NM_005802.4	NP_005793.2	Q9NS56	TOPRS_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.0018)	3	485_486	-			123			E3 ubiquitin-protein ligase activity.|Required for DNA-binding.		O43273|Q6P987|Q9NS55|Q9UNR9	Frame_Shift_Del	DEL	ENST00000360538.2	37	c.369_370delCT	CCDS6527.1																																																																																				0.401	TOPORS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052007.1	NM_005802		20	115						20	115	---	---	---	---	-	32544154	AG	-	32544153	7	5	155	1	0	1	0	1	0	0	0	0	16367	188	7	0	2771	0	TOPORS	9	32544153	Frame_Shift_Del	DEL	AG	TCGA-G9-6343-01A-21D-1961-08		32544153	108669278	18	7555											
FZD8	8325	broad.mit.edu	37	chr10	35929635	35929635	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcgggtggcgctcgctggaCacgctcaccataggcgcgcg	6	5	16	14	7	1	0	1	0	0	0	2	1	1	1	1	4	1	3	1	4	1	1			TCGA-G9-6343-01A-21D-1961-08	TCGA-G9-6343-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdb78cfc-4a29-488a-b215-a4996b3ab873	e4bf7fcc-99b3-4e83-8336-2caacc77a011	g.chr10:35929635C>A	ENST00000374694.1	-	1	727	c.723G>T	c.(721-723)gtG>gtT	p.V241V	MIR4683_ENST00000579659.1_RNA	NM_031866.2	NP_114072.1	Q9H461	FZD8_HUMAN	frizzled class receptor 8	241					axonogenesis (GO:0007409)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|gonad development (GO:0008406)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron differentiation (GO:0030182)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|T cell differentiation in thymus (GO:0033077)|vasculature development (GO:0001944)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|ubiquitin protein ligase binding (GO:0031625)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	11						GCTCGCTGGACACGCTCACCA	0.736																																						ENST00000374694.1																			0				central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	11						c.(721-723)gtG>gtT		frizzled family receptor 8							25	27	26					10																	35929635		2203	4296	6499	SO:0001819	synonymous_variant	8325				axonogenesis|brain development|canonical Wnt receptor signaling pathway|embryo development|gonad development|T cell differentiation in thymus|vasculature development	cell projection|Golgi apparatus|integral to membrane|plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding	g.chr10:35929635C>A	AB043703	CCDS7192.1	10p11.2	2014-01-29	2014-01-29		ENSG00000177283	ENSG00000177283		"GPCR / Class F : Frizzled receptors"	4046	protein-coding gene	gene with protein product		606146	"frizzled (Drosophila) homolog 8", "frizzled homolog 8 (Drosophila)", "frizzled 8, seven transmembrane spanning receptor", "frizzled family receptor 8"			11295046	Standard	NM_031866		Approved		uc001iyz.1	Q9H461	OTTHUMG00000017956	ENST00000374694.1:c.723G>T	10.37:g.35929635C>A							p.V241V	NM_031866.2	NP_114072.1	Q9H461	FZD8_HUMAN			1	727	-			241						Silent	SNP	ENST00000374694.1	37	c.723G>T	CCDS7192.1																																																																																				0.736	FZD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047575.2	NM_031866		5	40	1	0	3.59834e-05	0.001168	9.87628e-05	5	40					A	35929635	C	A	35929635	2	1	155	1	0	0	0	0	0	0	0	1	6136	465	17	5		5	FZD8	10	35929635	Silent	SNP	C	TCGA-G9-6343-01A-21D-1961-08		35929635	99605112	19	7556											
POLR3A	11128	broad.mit.edu	37	chr10	79781714	79781714	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcactgttaatgtagagggCacactgcagctgcaggaaat	12	9	11	9	0	1	1	1	0	0	1	1	2	1	2	0	2	3	6	0	2	3	2			TCGA-G9-6343-01A-21D-1961-08	TCGA-G9-6343-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdb78cfc-4a29-488a-b215-a4996b3ab873	e4bf7fcc-99b3-4e83-8336-2caacc77a011	g.chr10:79781714C>T	ENST00000372371.3	-	7	1089	c.952G>A	c.(952-954)Gcc>Acc	p.A318T	POLR3A_ENST00000484760.1_5'Flank	NM_007055.3	NP_008986.2	O14802	RPC1_HUMAN	polymerase (RNA) III (DNA directed) polypeptide A, 155kDa	318					defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of type I interferon production (GO:0032481)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|DNA-directed RNA polymerase III complex (GO:0005666)|membrane (GO:0016020)|nucleoplasm (GO:0005654)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|ribonucleoside binding (GO:0032549)|zinc ion binding (GO:0008270)			breast(1)|endometrium(7)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	all_cancers(46;0.0356)|all_epithelial(25;0.00102)|Breast(12;0.00124)|Prostate(51;0.0095)		Epithelial(14;0.00161)|OV - Ovarian serous cystadenocarcinoma(4;0.00323)|all cancers(16;0.00646)			ATGTAGAGGGCACACTGCAGC	0.532																																						ENST00000372371.3																			0				breast(1)|endometrium(7)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59						c.(952-954)Gcc>Acc		polymerase (RNA) III (DNA directed) polypeptide A, 155kDa							85	76	79					10																	79781714		2203	4300	6503	SO:0001583	missense	11128				innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	DNA-directed RNA polymerase III complex	DNA binding|DNA-directed RNA polymerase activity|ribonucleoside binding|zinc ion binding	g.chr10:79781714C>T	AF021351	CCDS7354.1	10q22-q23	2013-01-21			ENSG00000148606	ENSG00000148606		"RNA polymerase subunits"	30074	protein-coding gene	gene with protein product		614258				9331371, 12391170	Standard	NM_007055		Approved	RPC1, RPC155, hRPC155	uc001jzn.3	O14802	OTTHUMG00000018550	ENST00000372371.3:c.952G>A	10.37:g.79781714C>T	ENSP00000361446:p.Ala318Thr						p.A318T	NM_007055.3	NP_008986.2	O14802	RPC1_HUMAN	Epithelial(14;0.00161)|OV - Ovarian serous cystadenocarcinoma(4;0.00323)|all cancers(16;0.00646)		7	1089	-	all_cancers(46;0.0356)|all_epithelial(25;0.00102)|Breast(12;0.00124)|Prostate(51;0.0095)		318					Q8IW34|Q8TCW5	Missense_Mutation	SNP	ENST00000372371.3	37	c.952G>A	CCDS7354.1	.	.	.	.	.	.	.	.	.	.	C	33	5.285269	0.95517	.	.	ENSG00000148606	ENST00000372371;ENST00000540842	T	0.68765	-0.35	5.72	5.72	0.89469	RNA polymerase, N-terminal (1);RNA polymerase Rpb1, domain 1 (1);	0.000000	0.85682	D	0.000000	T	0.78541	0.4299	L	0.59967	1.855	0.80722	D	1	D	0.63046	0.992	P	0.62382	0.901	T	0.76024	-0.3110	9	.	.	.	-26.7274	19.877	0.96880	0.0:1.0:0.0:0.0	.	318	O14802	RPC1_HUMAN	T	318	ENSP00000361446:A318T	.	A	-	1	0	POLR3A	79451720	1.000000	0.71417	0.987000	0.45799	0.693000	0.40251	7.479000	0.81095	2.696000	0.92011	0.650000	0.86243	GCC		0.532	POLR3A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048923.1	NM_007055		7	53	0	0	0	0.001984	0	7	53					T	79781714	C	T	79781714	3	4	155	1	0	0	0	0	1	0	0	0	12228	710	25	3	3320	3	POLR3A	10	79781714	Missense_Mutation	SNP	C	TCGA-G9-6343-01A-21D-1961-08	43852079	79781714	55753033	20	7557											
PPFIBP2	8495	broad.mit.edu	37	chr11	7670431	7670431	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aagaccagtttcatgaatctAgagttgacagacgaatgctg	14	10	10	7	1	2	5	1	2	1	3	2	6	2	5	1	0	1	3	1	0	4	3			TCGA-G9-6343-01A-21D-1961-08	TCGA-G9-6343-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdb78cfc-4a29-488a-b215-a4996b3ab873	e4bf7fcc-99b3-4e83-8336-2caacc77a011	g.chr11:7670431A>G	ENST00000299492.4	+	20	2351	c.1963A>G	c.(1963-1965)Aga>Gga	p.R655G	PPFIBP2_ENST00000530181.1_Missense_Mutation_p.R512G|PPFIBP2_ENST00000530582.1_3'UTR|PPFIBP2_ENST00000533792.1_Missense_Mutation_p.R497G|PPFIBP2_ENST00000528883.1_Missense_Mutation_p.R543G	NM_003621.3	NP_003612	Q8ND30	LIPB2_HUMAN	PTPRF interacting protein, binding protein 2 (liprin beta 2)	655	SAM 2. {ECO:0000255|PROSITE- ProRule:PRU00184}.				cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|intracellular (GO:0005622)|presynaptic active zone (GO:0048786)	DNA binding (GO:0003677)|integrase activity (GO:0008907)			breast(8)|cervix(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32				Epithelial(150;2.01e-07)|BRCA - Breast invasive adenocarcinoma(625;0.236)		TCATGAATCTAGAGTTGACAG	0.428																																						ENST00000299492.4																			0				breast(8)|cervix(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32						c.(1963-1965)Aga>Gga		PTPRF interacting protein, binding protein 2 (liprin beta 2)							121	111	114					11																	7670431		2201	4296	6497	SO:0001583	missense	8495				cell communication|DNA integration	intracellular	DNA binding|integrase activity|protein binding	g.chr11:7670431A>G	AF034803	CCDS31419.1, CCDS58116.1, CCDS58117.1	11p15.4	2013-01-10			ENSG00000166387	ENSG00000166387		"Sterile alpha motif (SAM) domain containing"	9250	protein-coding gene	gene with protein product		603142				9624153	Standard	NM_003621		Approved	Cclp1	uc001mfj.5	Q8ND30	OTTHUMG00000165617	ENST00000299492.4:c.1963A>G	11.37:g.7670431A>G	ENSP00000299492:p.Arg655Gly					PPFIBP2_ENST00000528883.1_Missense_Mutation_p.R543G|PPFIBP2_ENST00000530582.1_3'UTR|PPFIBP2_ENST00000530181.1_Missense_Mutation_p.R512G|PPFIBP2_ENST00000533792.1_Missense_Mutation_p.R497G	p.R655G	NM_003621.3	NP_003612.2	Q8ND30	LIPB2_HUMAN		Epithelial(150;2.01e-07)|BRCA - Breast invasive adenocarcinoma(625;0.236)	20	2351	+			655			SAM 2.		B7Z433|E9PK77|O75337|Q8WW26	Missense_Mutation	SNP	ENST00000299492.4	37	c.1963A>G	CCDS31419.1	.	.	.	.	.	.	.	.	.	.	A	18.25	3.581399	0.65992	.	.	ENSG00000166387	ENST00000299492;ENST00000533792;ENST00000541115;ENST00000528883;ENST00000530181	T;T;T;T	0.50813	0.73;0.73;0.73;0.73	5.3	5.3	0.74995	Sterile alpha motif domain (2);Sterile alpha motif/pointed domain (2);Sterile alpha motif, type 1 (1);	0.000000	0.85682	D	0.000000	T	0.52075	0.1712	N	0.16266	0.395	0.45272	D	0.998273	D;P;D;P;D;D	0.89917	1.0;0.856;1.0;0.925;1.0;0.996	D;P;D;P;D;D	0.97110	0.997;0.577;1.0;0.68;0.999;0.971	T	0.55477	-0.8135	10	0.46703	T	0.11	-17.4172	13.4818	0.61340	1.0:0.0:0.0:0.0	.	543;543;578;497;512;655	E9PK77;B7Z433;F5GWB0;E9PP16;E9PMU1;Q8ND30	.;.;.;.;.;LIPB2_HUMAN	G	655;497;578;543;512	ENSP00000299492:R655G;ENSP00000436498:R497G;ENSP00000435469:R543G;ENSP00000437321:R512G	ENSP00000299492:R655G	R	+	1	2	PPFIBP2	7627007	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	2.508000	0.45450	2.125000	0.65367	0.460000	0.39030	AGA		0.428	PPFIBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385345.2	NM_003621		4	58	0	0	0	0.000248	0	4	58					G	7670431	A	G	7670431	3	3	155	1	0	0	0	0	1	0	0	0	12314	412	15	4	2037	4	PPFIBP2	11	7670431	Missense_Mutation	SNP	A	TCGA-G9-6343-01A-21D-1961-08		7670431	127336085	21	7558											
TP53AIP1	63970	broad.mit.edu	37	chr11	128807545	128807545	+	Intron	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctgtggcaggcaaaagacCgtctcggttttcactgcagg	8	9	14	10	2	2	1	1	0	1	1	3	1	2	1	1	5	1	5	1	5	2	2			TCGA-G9-6343-01A-21D-1961-08	TCGA-G9-6343-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdb78cfc-4a29-488a-b215-a4996b3ab873	e4bf7fcc-99b3-4e83-8336-2caacc77a011	g.chr11:128807545C>A	ENST00000531399.1	-	2	351				TP53AIP1_ENST00000458238.2_Intron|TP53AIP1_ENST00000602346.1_Missense_Mutation_p.G57C|TP53AIP1_ENST00000530777.1_Intron	NM_022112.2	NP_071395.2	Q9HCN2	TPIP1_HUMAN	tumor protein p53 regulated apoptosis inducing protein 1						apoptotic process (GO:0006915)	mitochondrion (GO:0005739)				large_intestine(1)|lung(1)|skin(1)	3						GGCAAAAGACCGTCTCGGTTT	0.607																																						ENST00000602346.1																			0				large_intestine(1)|lung(1)|skin(1)	3						c.(169-171)Ggt>Tgt		tumor protein p53 regulated apoptosis inducing protein 1							75	69	71					11																	128807545		2201	4297	6498	SO:0001627	intron_variant	63970				apoptosis	mitochondrion		g.chr11:128807545C>A	AB045831	CCDS8480.1, CCDS8480.2, CCDS55797.1, CCDS55798.1, CCDS58195.1	11q24.3	2011-01-26	2009-03-09		ENSG00000120471	ENSG00000120471			29984	protein-coding gene	gene with protein product		605426				11030628, 12019168	Standard	NM_022112		Approved	p53AIP1	uc021qsd.1	Q9HCN2		ENST00000531399.1:c.141+27G>T	11.37:g.128807545C>A						TP53AIP1_ENST00000531399.1_Intron|TP53AIP1_ENST00000530777.1_Intron|TP53AIP1_ENST00000458238.2_Intron	p.G57C	NM_001251964.1	NP_001238893.1	Q9HCN2	TPIP1_HUMAN			2	378	-			0					Q6NT40|Q7Z6F7|Q9HCN0|Q9HCN1	Missense_Mutation	SNP	ENST00000531399.1	37	c.169G>T	CCDS8480.2	.	.	.	.	.	.	.	.	.	.	C	4.959	0.178179	0.09443	.	.	ENSG00000120471	ENST00000263583	.	.	.	2.09	-4.02	0.04034	.	.	.	.	.	T	0.24275	0.0588	.	.	.	0.09310	N	1	B	0.17667	0.023	B	0.15052	0.012	T	0.25641	-1.0126	7	0.87932	D	0	.	0.7576	0.01001	0.2579:0.3594:0.1395:0.2432	.	57	Q9HCN2-3	.	C	57	.	ENSP00000263583:G57C	G	-	1	0	TP53AIP1	128312755	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.698000	0.05092	-1.301000	0.02338	-2.598000	0.00163	GGT		0.607	TP53AIP1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386244.1	NM_022112		13	88	1	0	0.000308642	0.003163	0.000812547	13	88					A	128807545	C	A	128807545	1	1	155	0	1	0	0	0	0	0	0	0	16379	652	23	5		5	TP53AIP1	11	128807545	Intron	SNP	C	TCGA-G9-6343-01A-21D-1961-08	121137114	128807545	6198971	22	7559											
KIF21A	55605	broad.mit.edu	37	chr12	39696874	39696874	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgcttctatgccatcataatGagggggttcaaaattgtggg	10	13	12	6	0	3	1	2	1	1	0	3	1	3	1	1	3	2	2	1	3	4	5			TCGA-G9-6343-01A-21D-1961-08	TCGA-G9-6343-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdb78cfc-4a29-488a-b215-a4996b3ab873	e4bf7fcc-99b3-4e83-8336-2caacc77a011	g.chr12:39696874G>A	ENST00000361418.5	-	36	4639	c.4624C>T	c.(4624-4626)Cat>Tat	p.H1542Y	KIF21A_ENST00000541463.2_Missense_Mutation_p.H1489Y|KIF21A_ENST00000361961.3_Missense_Mutation_p.H1529Y|KIF21A_ENST00000395670.3_Missense_Mutation_p.H1543Y|KIF21A_ENST00000544797.2_Missense_Mutation_p.H1505Y			Q7Z4S6	KI21A_HUMAN	kinesin family member 21A	1542					ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	86		Lung NSC(34;0.179)|all_lung(34;0.213)				CCATCATAATGAGGGGGTTCA	0.393																																						ENST00000395670.3																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	86						c.(4627-4629)Cat>Tat		kinesin family member 21A							110	103	106					12																	39696874		2203	4300	6503	SO:0001583	missense	55605				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr12:39696874G>A	AK000059	CCDS31773.1, CCDS53774.1, CCDS53775.1, CCDS53776.1	12q12	2013-01-10						"Kinesins", "WD repeat domain containing"	19349	protein-coding gene	gene with protein product		608283	"fibrosis of the extraocular muscles, congenital, 1"	FEOM1		10225949	Standard	NM_017641		Approved	FLJ20052	uc001rly.3	Q7Z4S6	OTTHUMG00000169335	ENST00000361418.5:c.4624C>T	12.37:g.39696874G>A	ENSP00000354878:p.His1542Tyr					KIF21A_ENST00000541463.2_Missense_Mutation_p.H1489Y|KIF21A_ENST00000361418.5_Missense_Mutation_p.H1542Y|KIF21A_ENST00000361961.3_Missense_Mutation_p.H1529Y|KIF21A_ENST00000544797.2_Missense_Mutation_p.H1505Y	p.H1543Y			Q7Z4S6	KI21A_HUMAN			35	5046	-		Lung NSC(34;0.179)|all_lung(34;0.213)	1542					A8MX28|B0I1R9|B9EGE4|F5H0C3|F5H219|Q2UVF1|Q6UKL9|Q7Z668|Q86WZ5|Q8IVZ8|Q9C0F5|Q9NXU4|Q9Y590	Missense_Mutation	SNP	ENST00000361418.5	37	c.4627C>T	CCDS53776.1	.	.	.	.	.	.	.	.	.	.	G	26.7	4.764037	0.89932	.	.	ENSG00000139116	ENST00000361961;ENST00000395670;ENST00000341813;ENST00000545778;ENST00000551264;ENST00000544797;ENST00000361418;ENST00000541463	D;D;D;T;D;T	0.87029	-2.2;-2.2;-2.2;1.32;-2.2;-0.44	5.18	5.18	0.71444	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.53938	D	0.000050	D	0.95589	0.8566	H	0.94542	3.55	0.58432	D	0.999999	D;D;D;D;D;D	0.89917	0.996;0.996;0.999;0.996;0.999;1.0	D;D;D;D;D;D	0.91635	0.986;0.986;0.968;0.986;0.997;0.999	D	0.96772	0.9569	10	0.87932	D	0	.	18.7182	0.91684	0.0:0.0:1.0:0.0	.	1505;1489;1542;1529;1495;529	F5H219;F5H0C3;Q7Z4S6;Q7Z4S6-2;Q7Z4S6-3;F5H0V8	.;.;KI21A_HUMAN;.;.;.	Y	1529;1543;1495;529;523;1505;1542;1489	ENSP00000354851:H1529Y;ENSP00000379029:H1543Y;ENSP00000448792:H523Y;ENSP00000445606:H1505Y;ENSP00000354878:H1542Y;ENSP00000438075:H1489Y	ENSP00000344501:H1495Y	H	-	1	0	KIF21A	37983141	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.666000	0.98612	2.429000	0.82318	0.591000	0.81541	CAT		0.393	KIF21A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403581.1	NM_017641		10	85	0	0	0	0.008291	0	10	85					A	39696874	G	A	39696874	3	1	155	1	0	0	0	0	1	0	0	0	8288	1290	45	3	412	3	KIF21A	12	39696874	Missense_Mutation	SNP	G	TCGA-G9-6343-01A-21D-1961-08		39696874	94155021	23	7560											
OR6C2	341416	broad.mit.edu	37	chr12	55846662	55846662	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctacttgtacatagtcagaaCaattctgaagttcccttctg	11	14	6	10	0	3	2	1	1	2	1	4	2	4	2	1	0	3	2	1	0	6	7			TCGA-G9-6343-01A-21D-1961-08	TCGA-G9-6343-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdb78cfc-4a29-488a-b215-a4996b3ab873	e4bf7fcc-99b3-4e83-8336-2caacc77a011	g.chr12:55846662C>A	ENST00000322678.1	+	1	665	c.665C>A	c.(664-666)aCa>aAa	p.T222K	RP11-110A12.2_ENST00000556750.1_RNA|RP11-110A12.2_ENST00000555146.1_RNA|RP11-110A12.2_ENST00000554049.1_RNA|RP11-110A12.2_ENST00000555138.1_RNA	NM_054105.1	NP_473446.1	Q9NZP2	OR6C2_HUMAN	olfactory receptor, family 6, subfamily C, member 2	222					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			kidney(2)|large_intestine(5)|lung(8)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	23						ATAGTCAGAACAATTCTGAAG	0.403																																						ENST00000322678.1																			0				kidney(2)|large_intestine(5)|lung(8)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	23						c.(664-666)aCa>aAa		olfactory receptor, family 6, subfamily C, member 2							164	153	157					12																	55846662		2203	4300	6503	SO:0001583	missense	341416				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr12:55846662C>A	AF179766	CCDS31824.1	12q13.2	2012-08-09				ENSG00000179695		"GPCR / Class A : Olfactory receptors"	15436	protein-coding gene	gene with protein product							Standard	NM_054105		Approved	OR6C67	uc001sgz.1	Q9NZP2	OTTHUMG00000169957	ENST00000322678.1:c.665C>A	12.37:g.55846662C>A	ENSP00000323606:p.Thr222Lys					RP11-110A12.2_ENST00000555138.1_RNA|RP11-110A12.2_ENST00000555146.1_RNA|RP11-110A12.2_ENST00000556750.1_RNA|RP11-110A12.2_ENST00000554049.1_RNA	p.T222K	NM_054105.1	NP_473446.1	Q9NZP2	OR6C2_HUMAN			1	665	+			222						Missense_Mutation	SNP	ENST00000322678.1	37	c.665C>A	CCDS31824.1	.	.	.	.	.	.	.	.	.	.	C	23.5	4.428783	0.83667	.	.	ENSG00000179695	ENST00000322678	T	0.00152	8.66	5.28	5.28	0.74379	GPCR, rhodopsin-like superfamily (1);	0.196812	0.36268	N	0.002681	T	0.00552	0.0018	M	0.90483	3.12	0.31744	N	0.635462	D	0.55172	0.97	P	0.59056	0.851	T	0.40098	-0.9581	10	0.87932	D	0	.	17.6249	0.88091	0.0:1.0:0.0:0.0	.	222	Q9NZP2	OR6C2_HUMAN	K	222	ENSP00000323606:T222K	ENSP00000323606:T222K	T	+	2	0	OR6C2	54132929	0.000000	0.05858	0.533000	0.28001	0.262000	0.26303	0.479000	0.22228	2.741000	0.93983	0.609000	0.83330	ACA		0.403	OR6C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406676.1	NM_054105		14	145	1	0	1.5842e-08	0.001855	4.44265e-08	14	145					A	55846662	C	A	55846662	3	1	155	1	0	0	0	0	1	0	0	0	11191	478	17	5	667	5	OR6C2	12	55846662	Missense_Mutation	SNP	C	TCGA-G9-6343-01A-21D-1961-08	16149788	55846662	78005233	24	7561											
PTPRB	5787	broad.mit.edu	37	chr12	70925905	70925905	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ttggagtctaactgctggagGattcggtccaatgcaataaa	12	11	11	7	1	1	0	0	0	1	0	3	3	2	3	1	4	3	2	1	4	5	4			TCGA-G9-6343-01A-21D-1961-08	TCGA-G9-6343-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdb78cfc-4a29-488a-b215-a4996b3ab873	e4bf7fcc-99b3-4e83-8336-2caacc77a011	g.chr12:70925905G>A	ENST00000261266.5	-	30	5789	c.5760C>T	c.(5758-5760)atC>atT	p.I1920I	PTPRB_ENST00000550857.1_Silent_p.I1830I|PTPRB_ENST00000550358.1_Silent_p.I2050I|PTPRB_ENST00000538708.1_Silent_p.I1830I|RP11-588H23.3_ENST00000548687.1_RNA|RP11-588H23.3_ENST00000551438.1_RNA|PTPRB_ENST00000451516.2_Silent_p.I1830I|PTPRB_ENST00000334414.6_Silent_p.I2138I|RP11-588H23.3_ENST00000547656.1_RNA|RP11-588H23.3_ENST00000546836.1_RNA|RP11-588H23.3_ENST00000549460.1_RNA	NM_002837.4	NP_002828.3	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	1920	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				angiogenesis (GO:0001525)|dephosphorylation (GO:0016311)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|protein dephosphorylation (GO:0006470)	integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			ACTGCTGGAGGATTCGGTCCA	0.448																																						ENST00000334414.6																			0				breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107						c.(6412-6414)atC>atT		protein tyrosine phosphatase, receptor type, B							121	116	118					12																	70925905		1947	4141	6088	SO:0001819	synonymous_variant	0				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr12:70925905G>A	X54131	CCDS44943.1, CCDS44944.1, CCDS55845.1, CCDS55846.1	12q15-q21	2013-02-11						"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Fibronectin type III domain containing"	9665	protein-coding gene	gene with protein product		176882		PTPB		2169617	Standard	NM_001109754		Approved		uc001swc.4	P23467	OTTHUMG00000169499	ENST00000261266.5:c.5760C>T	12.37:g.70925905G>A						RP11-588H23.3_ENST00000546836.1_RNA|RP11-588H23.3_ENST00000549460.1_RNA|RP11-588H23.3_ENST00000547656.1_RNA|PTPRB_ENST00000550857.1_Silent_p.I1830I|PTPRB_ENST00000261266.5_Silent_p.I1920I|RP11-588H23.3_ENST00000551438.1_RNA|PTPRB_ENST00000451516.2_Silent_p.I1830I|PTPRB_ENST00000550358.1_Silent_p.I2050I|PTPRB_ENST00000538708.1_Silent_p.I1830I|RP11-588H23.3_ENST00000548687.1_RNA	p.I2138I	NM_001109754.2	NP_001103224.1	P23467	PTPRB_HUMAN	GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)		32	6458	-	Renal(347;0.236)		1920					B7ZKS8|B7ZKT0|C9JX87|F5H3G6|Q14D85|Q3MIV7	Silent	SNP	ENST00000261266.5	37	c.6414C>T	CCDS44944.1																																																																																				0.448	PTPRB-007	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000404439.1			6	40	0	0	0	0.001168	0	6	40					A	70925905	G	A	70925905	2	1	155	1	0	0	0	0	0	0	0	1	12796	1164	41	3		3	PTPRB	12	70925905	Silent	SNP	G	TCGA-G9-6343-01A-21D-1961-08	15079243	70925905	62925990	25	7562											
CCDC41	51134	broad.mit.edu	37	chr12	94763798	94763798	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atttccagtttgtttgaatgTttaagttcttttacctgttg	7	22	7	5	0	1	1	0	1	1	0	2	1	2	1	2	0	1	5	2	0	3	9			TCGA-G9-6343-01A-21D-1961-08	TCGA-G9-6343-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdb78cfc-4a29-488a-b215-a4996b3ab873	e4bf7fcc-99b3-4e83-8336-2caacc77a011	g.chr12:94763798T>C	ENST00000397809.5	-	9	1497	c.948A>G	c.(946-948)aaA>aaG	p.K316K	CCDC41_ENST00000549352.1_5'UTR|CCDC41_ENST00000547575.1_Silent_p.K316K|CCDC41_ENST00000397807.2_Silent_p.K283K|CCDC41_ENST00000339839.5_Silent_p.K316K	NM_016122.2	NP_057206.2	Q9Y592	CEP83_HUMAN		308					cilium assembly (GO:0042384)|protein localization to centrosome (GO:0071539)|vesicle docking (GO:0048278)	centriole (GO:0005814)|ciliary transition fiber (GO:0097539)|Golgi apparatus (GO:0005794)				breast(1)|central_nervous_system(3)|kidney(3)|large_intestine(8)|lung(8)|prostate(2)|skin(2)	27						TGTTTGAATGTTTAAGTTCTT	0.328																																						ENST00000397809.5																			0				breast(1)|central_nervous_system(3)|kidney(3)|large_intestine(8)|lung(8)|prostate(2)|skin(2)	27						c.(946-948)aaA>aaG		coiled-coil domain containing 41							235	213	220					12																	94763798		1846	4109	5955	SO:0001819	synonymous_variant	51134							g.chr12:94763798T>C																												ENST00000397809.5:c.948A>G	12.37:g.94763798T>C						CCDC41_ENST00000547575.1_Silent_p.K316K|CCDC41_ENST00000397807.2_Silent_p.K283K|CCDC41_ENST00000549352.1_5'UTR|CCDC41_ENST00000339839.5_Silent_p.K316K	p.K316K	NM_016122.2	NP_057206.2	Q9Y592	CCD41_HUMAN			9	1497	-			308					A4FVB1|Q08AP1	Silent	SNP	ENST00000397809.5	37	c.948A>G	CCDS41820.1																																																																																				0.328	CCDC41-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408147.3			5	153	0	0	0	0.001168	0	5	153					C	94763798	T	C	94763798	2	2	155	1	0	0	0	0	0	0	0	1	2813	1722	60	4		4	CCDC41	12	94763798	Silent	SNP	T	TCGA-G9-6343-01A-21D-1961-08	23837893	94763798	39088097	26	7563											
C16orf48	84080	broad.mit.edu	37	chr16	67700164	67700164	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gcgtttccctcgaggcgcccTtgagctgtggggcggagccg	3	8	17	13	5	0	1	0	1	0	0	2	3	1	2	3	4	2	2	3	4	0	2			TCGA-G9-6343-01A-21D-1961-08	TCGA-G9-6343-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdb78cfc-4a29-488a-b215-a4996b3ab873	e4bf7fcc-99b3-4e83-8336-2caacc77a011	g.chr16:67700164T>C	ENST00000243878.4	-	2	411	c.90A>G	c.(88-90)caA>caG	p.Q30Q	ENKD1_ENST00000602644.1_Silent_p.Q30Q|ENKD1_ENST00000602409.1_5'Flank|C16orf86_ENST00000403458.4_5'Flank	NM_032140.1	NP_115516.1	Q9H0I2	ENKD1_HUMAN	enkurin domain containing 1	30						cytoplasmic microtubule (GO:0005881)|microtubule cytoskeleton (GO:0015630)											CGAGGCGCCCTTGAGCTGTGG	0.731																																						ENST00000243878.4																			0											c.(88-90)caA>caG		enkurin domain containing 1							13	16	15					16																	67700164		2145	4229	6374	SO:0001819	synonymous_variant	84080							g.chr16:67700164T>C	BC008284	CCDS10844.1	16q22.1	2012-10-09	2012-10-09	2012-10-09	ENSG00000124074	ENSG00000124074			25246	protein-coding gene	gene with protein product			"chromosome 16 open reading frame 48"	C16orf48		11230166	Standard	NM_032140		Approved	DKFZP434A1319	uc002etw.1	Q9H0I2	OTTHUMG00000137550	ENST00000243878.4:c.90A>G	16.37:g.67700164T>C						ENKD1_ENST00000602644.1_Silent_p.Q30Q	p.Q30Q	NM_032140.1	NP_115516.1					2	411	-								Q6UWD7	Silent	SNP	ENST00000243878.4	37	c.90A>G	CCDS10844.1																																																																																				0.731	ENKD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268884.1	NM_032140		7	30	0	0	0	0.001984	0	7	30					C	67700164	T	C	67700164	2	2	155	1	0	0	0	0	0	0	0	1	1816	1606	56	4		4	C16orf48	16	67700164	Silent	SNP	T	TCGA-G9-6343-01A-21D-1961-08		67700164	22654589	27	7564											
MYH4	4622	broad.mit.edu	37	chr17	10366430	10366430	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tgagctctggtttcttattgGacaggatttgataaaatatg	11	16	10	4	0	2	2	0	2	2	0	2	4	2	4	0	3	1	2	0	3	4	6			TCGA-G9-6343-01A-21D-1961-08	TCGA-G9-6343-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdb78cfc-4a29-488a-b215-a4996b3ab873	e4bf7fcc-99b3-4e83-8336-2caacc77a011	g.chr17:10366430G>A	ENST00000255381.2	-	10	991	c.881C>T	c.(880-882)tCc>tTc	p.S294F	RP11-799N11.1_ENST00000581304.1_RNA|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	294	Myosin motor.				actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|membrane organization (GO:0061024)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|response to activity (GO:0014823)	muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|microfilament motor activity (GO:0000146)			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						TTTCTTATTGGACAGGATTTG	0.368																																						ENST00000255381.2																			0				NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						c.(880-882)tCc>tTc		myosin, heavy chain 4, skeletal muscle							98	97	97					17																	10366430		2203	4300	6503	SO:0001583	missense	4622				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr17:10366430G>A		CCDS11154.1	17p13.1	2013-09-19	2006-09-29		ENSG00000264424	ENSG00000264424		"Myosins / Myosin superfamily : Class II"	7574	protein-coding gene	gene with protein product		160742	"myosin, heavy polypeptide 4, skeletal muscle"			8518795	Standard	NM_017533		Approved	MYH2B, MyHC-2B, MyHC-IIb	uc002gmn.3	Q9Y623	OTTHUMG00000130365	ENST00000255381.2:c.881C>T	17.37:g.10366430G>A	ENSP00000255381:p.Ser294Phe					CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA	p.S294F	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN			10	991	-			294			Myosin head-like.			Missense_Mutation	SNP	ENST00000255381.2	37	c.881C>T	CCDS11154.1	.	.	.	.	.	.	.	.	.	.	G	26.8	4.767909	0.90020	.	.	ENSG00000141048	ENST00000255381	D	0.88277	-2.36	5.37	5.37	0.77165	Myosin head, motor domain (2);	0.000000	0.37304	U	0.002154	D	0.96408	0.8828	H	0.95780	3.72	0.80722	D	1	D	0.61080	0.989	D	0.74023	0.982	D	0.97265	0.9907	10	0.87932	D	0	.	19.4676	0.94950	0.0:0.0:1.0:0.0	.	294	Q9Y623	MYH4_HUMAN	F	294	ENSP00000255381:S294F	ENSP00000255381:S294F	S	-	2	0	MYH4	10307155	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.806000	0.99153	2.666000	0.90696	0.650000	0.86243	TCC		0.368	MYH4-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252731.1	NM_017533		6	58	0	0	0	0.00308	0	6	58					A	10366430	G	A	10366430	3	1	155	1	0	0	0	0	1	0	0	0	10037	1174	41	3	5062	3	MYH4	17	10366430	Missense_Mutation	SNP	G	TCGA-G9-6343-01A-21D-1961-08		10366430	70828780	28	7565											
NT5C3L	115024	broad.mit.edu	37	chr17	39983679	39983679	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gccctggtcctctacccaccTtgtcattcaggaagccaatt	8	11	7	15	0	3	0	2	0	1	0	4	1	4	1	5	2	2	0	5	2	3	4			TCGA-G9-6343-01A-21D-1961-08	TCGA-G9-6343-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdb78cfc-4a29-488a-b215-a4996b3ab873	e4bf7fcc-99b3-4e83-8336-2caacc77a011	g.chr17:39983679T>C	ENST00000435506.2	-	8	836	c.767A>G	c.(766-768)aAg>aGg	p.K256R	NT5C3B_ENST00000269534.8_Splice_Site_p.K248R|NT5C3B_ENST00000521789.1_Intron			Q969T7	5NT3B_HUMAN	5'-nucleotidase, cytosolic IIIB	256					nucleotide metabolic process (GO:0009117)	cytoplasm (GO:0005737)	5'-nucleotidase activity (GO:0008253)|magnesium ion binding (GO:0000287)|nucleotide binding (GO:0000166)										TCTACCCACCTTGTCATTCAG	0.453																																						ENST00000269534.8																			0											c.e8+1		5'-nucleotidase, cytosolic IIIB							120	120	120					17																	39983679		2203	4300	6503	SO:0001630	splice_region_variant	115024							g.chr17:39983679T>C		CCDS11410.1, CCDS11410.2	17q21.2	2013-01-31	2013-01-31	2013-01-31	ENSG00000141698	ENSG00000141698	3.1.3.5		28300	protein-coding gene	gene with protein product			"5'-nucleotidase, cytosolic III-like"	NT5C3L		23223233	Standard	NM_052935		Approved	MGC20781	uc021txo.1	Q969T7	OTTHUMG00000133499	ENST00000435506.2:c.768+1A>G	17.37:g.39983679T>C						NT5C3B_ENST00000435506.2_Splice_Site_p.K256_splice|NT5C3B_ENST00000521789.1_Intron	p.K248_splice	NM_052935.4	NP_443167.4					8	844	-								A8MWB9|C9JKC4|Q7L3B7	Splice_Site	SNP	ENST00000435506.2	37	c.744_splice	CCDS11410.2	.	.	.	.	.	.	.	.	.	.	T	13.85	2.360142	0.41801	.	.	ENSG00000141698	ENST00000269534;ENST00000393911;ENST00000435506;ENST00000415460	D;D;D	0.84146	-1.81;-1.81;-1.81	4.97	4.97	0.65823	HAD-like domain (1);	0.000000	0.85682	D	0.000000	T	0.76557	0.4004	L	0.39085	1.19	0.54753	D	0.999989	B;P	0.34757	0.241;0.467	B;B	0.33042	0.157;0.157	T	0.74318	-0.3704	10	0.31617	T	0.26	-0.3445	9.7984	0.40748	0.0:0.0815:0.0:0.9185	.	256;248	C9JKC4;Q969T7	.;5NT3L_HUMAN	R	248;290;256;226	ENSP00000269534:K248R;ENSP00000389948:K256R;ENSP00000397742:K226R	ENSP00000269534:K248R	K	-	2	0	NT5C3L	37237205	1.000000	0.71417	1.000000	0.80357	0.783000	0.44284	4.936000	0.63506	2.086000	0.62901	0.379000	0.24179	AAG		0.453	NT5C3B-008	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257430.2	NM_052935	Missense_Mutation	6	106	0	0	0	0.00308	0	6	106					C	39983679	T	C	39983679	5	2	155	1	0	0	0	0	0	0	1	0	10689	1623	56	4	143	4	NT5C3L	17	39983679	Splice_Site	SNP	T	TCGA-G9-6343-01A-21D-1961-08	29617249	39983679	41211531	29	7566											
MUC16	94025	broad.mit.edu	37	chr19	9087660	9087660	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgttcagttgtgtctgtgatGgtccatgcttttgtggccgg	3	17	14	7	1	2	1	1	1	1	0	3	1	3	1	2	3	1	3	2	3	0	4			TCGA-G9-6343-01A-21D-1961-08	TCGA-G9-6343-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdb78cfc-4a29-488a-b215-a4996b3ab873	e4bf7fcc-99b3-4e83-8336-2caacc77a011	g.chr19:9087660G>A	ENST00000397910.4	-	1	4358	c.4155C>T	c.(4153-4155)acC>acT	p.T1385T		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	1385	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TGTCTGTGATGGTCCATGCTT	0.473																																						ENST00000397910.4																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(4153-4155)acC>acT		mucin 16, cell surface associated							162	163	163					19																	9087660		2186	4286	6472	SO:0001819	synonymous_variant	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9087660G>A	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.4155C>T	19.37:g.9087660G>A							p.T1385T	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			1	4358	-			1385			Thr-rich.		Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	c.4155C>T	CCDS54212.1																																																																																				0.473	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		15	128	0	0	0	0.006122	0	15	128					A	9087660	G	A	9087660	2	1	155	1	0	0	0	0	0	0	0	1	9973	1335	47	3		3	MUC16	19	9087660	Silent	SNP	G	TCGA-G9-6343-01A-21D-1961-08		9087660	50041323	30	7567											
ZNF426	79088	broad.mit.edu	37	chr19	9640096	9640096	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggtatacaatatttggtgTcaggctgaagattttttcac	10	16	9	6	0	2	2	2	1	0	1	2	2	2	2	0	3	1	2	0	3	5	7			TCGA-G9-6343-01A-21D-1961-08	TCGA-G9-6343-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdb78cfc-4a29-488a-b215-a4996b3ab873	e4bf7fcc-99b3-4e83-8336-2caacc77a011	g.chr19:9640096T>C	ENST00000535489.1	-	6	961	c.625A>G	c.(625-627)Aca>Gca	p.T209A	ZNF426_ENST00000593003.1_Missense_Mutation_p.T171A|ZNF426_ENST00000589289.1_3'UTR|ZNF426_ENST00000253115.2_Missense_Mutation_p.T209A			Q9BUY5	ZN426_HUMAN	zinc finger protein 426	209					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(3)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	20						ATATTTGGTGTCAGGCTGAAG	0.373																																						ENST00000593003.1																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(3)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	20						c.(511-513)Aca>Gca		zinc finger protein 426							162	157	159					19																	9640096		2203	4300	6503	SO:0001583	missense	79088				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:9640096T>C	AK095759	CCDS12215.1, CCDS74279.1	19p13.2	2013-01-08				ENSG00000130818		"Zinc fingers, C2H2-type", "-"	20725	protein-coding gene	gene with protein product							Standard	NM_024106		Approved	MGC2663	uc002mlq.3	Q9BUY5		ENST00000535489.1:c.625A>G	19.37:g.9640096T>C	ENSP00000439017:p.Thr209Ala					ZNF426_ENST00000253115.2_Missense_Mutation_p.T209A|ZNF426_ENST00000589289.1_3'UTR|ZNF426_ENST00000535489.1_Missense_Mutation_p.T209A	p.T171A			Q9BUY5	ZN426_HUMAN			6	988	-			209					B3KTL2	Missense_Mutation	SNP	ENST00000535489.1	37	c.511A>G	CCDS12215.1	.	.	.	.	.	.	.	.	.	.	T	9.782	1.175493	0.21704	.	.	ENSG00000130818	ENST00000545189;ENST00000253115;ENST00000535489	T;T	0.05447	3.44;3.44	1.25	1.25	0.21368	.	.	.	.	.	T	0.03564	0.0102	N	0.13299	0.325	0.09310	N	1	B;B	0.21225	0.053;0.053	B;B	0.26614	0.071;0.071	T	0.48019	-0.9071	9	0.18710	T	0.47	.	4.6587	0.12632	0.0:0.0:0.0:1.0	.	196;209	Q59EH4;Q9BUY5	.;ZN426_HUMAN	A	196;209;209	ENSP00000253115:T209A;ENSP00000439017:T209A	ENSP00000253115:T209A	T	-	1	0	ZNF426	9501096	0.000000	0.05858	0.009000	0.14445	0.799000	0.45148	-0.238000	0.08977	0.814000	0.34374	0.260000	0.18958	ACA		0.373	ZNF426-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449905.1	NM_024106		4	121	0	0	0	0.000248	0	4	121					C	9640096	T	C	9640096	3	2	155	1	0	0	0	0	1	0	0	0	17897	1667	58	4	1043	4	ZNF426	19	9640096	Missense_Mutation	SNP	T	TCGA-G9-6343-01A-21D-1961-08	552436	9640096	49488887	31	7568											
MYO9B	4650	broad.mit.edu	37	chr19	17265124	17265124	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acccatgcctttgttttccaGcataacttgaagattgaaga	12	13	7	9	0	0	4	0	2	0	2	1	4	1	4	3	0	3	2	3	0	3	6			TCGA-G9-6343-01A-21D-1961-08	TCGA-G9-6343-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdb78cfc-4a29-488a-b215-a4996b3ab873	e4bf7fcc-99b3-4e83-8336-2caacc77a011	g.chr19:17265124G>A	ENST00000594824.1	+	6	1245		c.e6-1		CTD-3032J10.2_ENST00000599360.1_RNA|CTD-3032J10.2_ENST00000597216.1_RNA|MYO9B_ENST00000397274.2_Splice_Site|MYO9B_ENST00000595618.1_Splice_Site			Q13459	MYO9B_HUMAN	myosin IXB						actin filament-based movement (GO:0030048)|establishment of cell polarity (GO:0030010)|lamellipodium morphogenesis (GO:0072673)|macrophage chemotaxis (GO:0048246)|monocyte chemotaxis (GO:0002548)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|filamentous actin (GO:0031941)|filopodium tip (GO:0032433)|lamellipodium (GO:0030027)|membrane (GO:0016020)|myosin complex (GO:0016459)|perinuclear region of cytoplasm (GO:0048471)|ruffle (GO:0001726)	actin binding (GO:0003779)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|Rho GTPase activator activity (GO:0005100)|zinc ion binding (GO:0008270)			breast(3)|endometrium(9)|kidney(2)|large_intestine(1)|lung(19)|soft_tissue(1)|urinary_tract(4)	39						TTGTTTTCCAGCATAACTTGA	0.587																																						ENST00000595618.1																			0				breast(3)|endometrium(9)|kidney(2)|large_intestine(1)|lung(19)|soft_tissue(1)|urinary_tract(4)	39						c.e6-1		myosin IXB							66	69	68					19																	17265124		1965	4162	6127	SO:0001630	splice_region_variant	4650				actin filament-based movement	cell cortex|cytosol|filamentous actin|myosin complex|perinuclear region of cytoplasm	actin binding|ADP binding|ATP binding|ATPase activity|calmodulin binding|metal ion binding|microfilament motor activity|Rho GTPase activator activity	g.chr19:17265124G>A		CCDS46010.1	19p13.1	2011-09-27				ENSG00000099331		"Myosins / Myosin superfamily : Class IX"	7609	protein-coding gene	gene with protein product		602129		CELIAC4		9226381	Standard	NM_004145		Approved		uc010eak.3	Q13459		ENST00000594824.1:c.1099-1G>A	19.37:g.17265124G>A						CTD-3032J10.2_ENST00000597216.1_RNA|MYO9B_ENST00000594824.1_Splice_Site|MYO9B_ENST00000397274.2_Splice_Site|CTD-3032J10.2_ENST00000599360.1_RNA		NM_001130065.1|NM_004145.3	NP_001123537.1|NP_004136.2	Q13459	MYO9B_HUMAN			6	1250	+								O75314|Q9NUJ2|Q9UHN0	Splice_Site	SNP	ENST00000594824.1	37			.	.	.	.	.	.	.	.	.	.	G	19.00	3.742302	0.69418	.	.	ENSG00000099331	ENST00000397274	.	.	.	5.08	5.08	0.68730	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.4633	0.87625	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	MYO9B	17126124	1.000000	0.71417	0.997000	0.53966	0.882000	0.50991	9.044000	0.93805	2.357000	0.79964	0.563000	0.77884	.		0.587	MYO9B-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000463236.1		Intron	3	57	0	0	0	0.004672	0	3	57					A	17265124	G	A	17265124	5	1	155	1	0	0	0	0	0	0	1	0	10085	985	34	3	1116	3	MYO9B	19	17265124	Splice_Site	SNP	G	TCGA-G9-6343-01A-21D-1961-08	7625028	17265124	41863859	32	7569											
ZNF208	7757	broad.mit.edu	37	chr19	22156520	22156520	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttttcttatgttccataaggTttgaggaccagttgaaagct	10	16	9	6	0	1	2	0	2	1	0	2	3	2	3	2	2	1	4	2	2	3	7			TCGA-G9-6343-01A-21D-1961-08	TCGA-G9-6343-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdb78cfc-4a29-488a-b215-a4996b3ab873	e4bf7fcc-99b3-4e83-8336-2caacc77a011	g.chr19:22156520T>C	ENST00000397126.4	-	4	1464	c.1316A>G	c.(1315-1317)aAc>aGc	p.N439S	ZNF208_ENST00000601773.1_Intron|ZNF208_ENST00000599916.1_Intron	NM_007153.3	NP_009084.2	O43345	ZN208_HUMAN	zinc finger protein 208	439					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				TTCCATAAGGTTTGAGGACCA	0.373																																						ENST00000397126.4																			0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113						c.(1315-1317)aAc>aGc		zinc finger protein 208							82	89	87					19																	22156520		2109	4252	6361	SO:0001583	missense	7757							g.chr19:22156520T>C	BC038199	CCDS54240.1	19p12	2013-01-08				ENSG00000160321		"Zinc fingers, C2H2-type", "-"	12999	protein-coding gene	gene with protein product	"zinc finger protein 95"	603977				9724325	Standard	NM_007153		Approved	PMIDP, ZNF95	uc021urr.1	O43345		ENST00000397126.4:c.1316A>G	19.37:g.22156520T>C	ENSP00000380315:p.Asn439Ser					ZNF208_ENST00000601773.1_Intron|ZNF208_ENST00000599916.1_Intron	p.N439S	NM_007153.3	NP_009084.2					4	1464	-		all_lung(12;0.0961)|Lung NSC(12;0.103)							Missense_Mutation	SNP	ENST00000397126.4	37	c.1316A>G	CCDS54240.1	.	.	.	.	.	.	.	.	.	.	T	0.004	-2.337772	0.00224	.	.	ENSG00000160321	ENST00000397126;ENST00000428290	T	0.19938	2.11	2.83	-3.92	0.04155	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.06096	0.0158	.	.	.	0.09310	N	1	B	0.13594	0.008	B	0.09377	0.004	T	0.36212	-0.9757	8	0.02654	T	1	.	5.4678	0.16652	0.0:0.2078:0.3899:0.4022	.	439	O43345	ZN208_HUMAN	S	439	ENSP00000380315:N439S	ENSP00000380315:N439S	N	-	2	0	ZNF208	21948360	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-4.351000	0.00248	-1.201000	0.02659	-2.303000	0.00259	AAC		0.373	ZNF208-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464302.1	NM_007153		7	67	0	0	0	0.001984	0	7	67					C	22156520	T	C	22156520	3	2	155	1	0	0	0	0	1	0	0	0	17763	1725	60	4	2530	4	ZNF208	19	22156520	Missense_Mutation	SNP	T	TCGA-G9-6343-01A-21D-1961-08	4891396	22156520	36972463	33	7570											
NCF4	4689	broad.mit.edu	37	chr22	37263492	37263492	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atgcggatacctgccctcaaCgcctacatgaaggtaccagt	11	8	9	13	2	1	1	1	1	0	0	1	2	1	2	4	2	6	1	4	2	5	3	rs373828331		TCGA-G9-6343-01A-21D-1961-08	TCGA-G9-6343-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdb78cfc-4a29-488a-b215-a4996b3ab873	e4bf7fcc-99b3-4e83-8336-2caacc77a011	g.chr22:37263492C>T	ENST00000248899.6	+	4	514	c.330C>T	c.(328-330)aaC>aaT	p.N110N	CTA-833B7.2_ENST00000330602.2_RNA|NCF4_ENST00000397147.4_Silent_p.N110N|CTA-833B7.2_ENST00000431290.1_RNA	NM_000631.4	NP_000622.2	Q15080	NCF4_HUMAN	neutrophil cytosolic factor 4, 40kDa	110	PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.				antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|immune response (GO:0006955)|interaction with host (GO:0051701)|oxidation-reduction process (GO:0055114)|phagosome maturation (GO:0090382)|positive regulation of catalytic activity (GO:0043085)	cytosol (GO:0005829)|endosome membrane (GO:0010008)|membrane (GO:0016020)|NADPH oxidase complex (GO:0043020)|phagolysosome (GO:0032010)	phosphatidylinositol-3-phosphate binding (GO:0032266)|protein dimerization activity (GO:0046983)|superoxide-generating NADPH oxidase activator activity (GO:0016176)			cervix(1)|endometrium(4)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	16					Dextromethorphan(DB00514)	CTGCCCTCAACGCCTACATGA	0.577																																						ENST00000397147.4																			0				cervix(1)|endometrium(4)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	16						c.(328-330)aaC>aaT		neutrophil cytosolic factor 4, 40kDa		T	,	0,4406		0,0,2203	104	70	82		330,330	-4.9	0.8	22		82	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	NCF4	NM_000631.4,NM_013416.3	,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,	110/340,110/349	37263492	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	4689				cell communication|immune response|oxidation-reduction process	cytosol|NADPH oxidase complex	phosphatidylinositol binding|protein dimerization activity	g.chr22:37263492C>T	X77094	CCDS13934.1, CCDS13935.1	22q13.1	2014-09-17	2002-08-29		ENSG00000100365	ENSG00000100365			7662	protein-coding gene	gene with protein product	"neutrophil NADPH oxidase factor 4"	601488	"neutrophil cytosolic factor 4 (40kD)"			8839867	Standard	NM_013416		Approved	p40phox, SH3PXD4	uc003apy.4	Q15080	OTTHUMG00000150548	ENST00000248899.6:c.330C>T	22.37:g.37263492C>T						CTA-833B7.2_ENST00000330602.2_RNA|CTA-833B7.2_ENST00000431290.1_RNA|NCF4_ENST00000248899.6_Silent_p.N110N	p.N110N	NM_013416.3	NP_038202.2	Q15080	NCF4_HUMAN			4	514	+			110			PX.		A8K4F9|O60808|Q86U56|Q9BU98|Q9NP45	Silent	SNP	ENST00000248899.6	37	c.330C>T	CCDS13934.1																																																																																				0.577	NCF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318863.1	NM_000631		4	38	0	0	0	0.000248	0	4	38					T	37263492	C	T	37263492	2	4	155	1	0	0	0	0	0	0	0	1	10218	535	19	1		1	NCF4	22	37263492	Silent	SNP	C	TCGA-G9-6343-01A-21D-1961-08		37263492	14041074	34	7571											
PDGFB	5155	broad.mit.edu	37	chr22	39626111	39626111	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgctgctcctgggaacccccCgggcttcgggtcacaggccg	4	6	14	17	4	1	0	1	0	0	0	3	1	2	1	5	4	2	3	5	4	1	1	rs149693918		TCGA-G9-6343-01A-21D-1961-08	TCGA-G9-6343-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdb78cfc-4a29-488a-b215-a4996b3ab873	e4bf7fcc-99b3-4e83-8336-2caacc77a011	g.chr22:39626111C>T	ENST00000331163.6	-	5	1366	c.579G>A	c.(577-579)ccG>ccA	p.P193P	PDGFB_ENST00000381551.4_Silent_p.P178P	NM_002608.2	NP_002599.1	P01127	PDGFB_HUMAN	platelet-derived growth factor beta polypeptide	193					actin cytoskeleton organization (GO:0030036)|activation of protein kinase activity (GO:0032147)|activation of protein kinase B activity (GO:0032148)|blood coagulation (GO:0007596)|blood vessel morphogenesis (GO:0048514)|branching involved in salivary gland morphogenesis (GO:0060445)|cell chemotaxis (GO:0060326)|cell growth (GO:0016049)|cell projection assembly (GO:0030031)|cellular response to growth factor stimulus (GO:0071363)|cellular response to mycophenolic acid (GO:0071506)|DNA replication (GO:0006260)|embryonic placenta development (GO:0001892)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell proliferation involved in salivary gland morphogenesis (GO:0060664)|extracellular matrix organization (GO:0030198)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|metanephric glomerular endothelium development (GO:0072264)|metanephric glomerular mesangial cell development (GO:0072255)|metanephric glomerular mesangial cell proliferation involved in metanephros development (GO:0072262)|monocyte chemotaxis (GO:0002548)|negative regulation of cell migration (GO:0030336)|negative regulation of phosphatidylinositol biosynthetic process (GO:0010512)|negative regulation of platelet activation (GO:0010544)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|paracrine signaling (GO:0038001)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive chemotaxis (GO:0050918)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of calcium ion import (GO:0090280)|positive regulation of cell division (GO:0051781)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chemotaxis (GO:0050921)|positive regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045737)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of DNA replication (GO:0045740)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast growth factor receptor signaling pathway (GO:0045743)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of glomerular filtration (GO:0003104)|positive regulation of glomerular mesangial cell proliferation (GO:0072126)|positive regulation of hyaluronan biosynthetic process (GO:1900127)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of metanephric mesenchymal cell migration (GO:2000591)|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway (GO:0035793)|positive regulation of mitosis (GO:0045840)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein autophosphorylation (GO:0031954)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of smooth muscle cell migration (GO:0014911)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|reactive oxygen species metabolic process (GO:0072593)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to hypoxia (GO:0001666)|response to insulin (GO:0032868)|response to wounding (GO:0009611)|substrate-dependent cell migration (GO:0006929)|transforming growth factor beta receptor signaling pathway (GO:0007179)	basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi membrane (GO:0000139)|platelet alpha granule lumen (GO:0031093)	chemoattractant activity (GO:0042056)|collagen binding (GO:0005518)|growth factor activity (GO:0008083)|identical protein binding (GO:0042802)|platelet-derived growth factor binding (GO:0048407)|platelet-derived growth factor receptor binding (GO:0005161)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|superoxide-generating NADPH oxidase activator activity (GO:0016176)		COL1A1/PDGFB(429)	central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(2)	7	Melanoma(58;0.04)					GGGAACCCCCCGGGCTTCGGG	0.622			T	COL1A1	DFSP																																	ENST00000331163.6				Dom	yes		22	22q12.3-q13.1	5155	T	platelet-derived growth factor beta polypeptide (simian sarcoma viral (v-sis) oncogene homolog)			M	COL1A1		DFSP	COL1A1/PDGFB(429)	0				central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(2)	7						c.(577-579)ccG>ccA		platelet-derived growth factor beta polypeptide	Becaplermin(DB00102)						54	58	57					22																	39626111		2203	4300	6503	SO:0001819	synonymous_variant	5155				activation of protein kinase B activity|cellular response to mycophenolic acid|embryonic placenta development|heart development|hemopoiesis|metanephric glomerular mesangial cell development|monocyte chemotaxis|negative regulation of phosphatidylinositol biosynthetic process|negative regulation of platelet activation|negative regulation of transcription, DNA-dependent|paracrine signaling|peptidyl-serine phosphorylation|peptidyl-tyrosine phosphorylation|platelet activation|platelet degranulation|positive regulation of blood vessel endothelial cell migration|positive regulation of calcium ion import|positive regulation of cell division|positive regulation of chemotaxis|positive regulation of cyclin-dependent protein kinase activity|positive regulation of DNA biosynthetic process|positive regulation of DNA replication|positive regulation of endothelial cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of fibroblast proliferation|positive regulation of glomerular filtration|positive regulation of glomerular mesangial cell proliferation|positive regulation of MAP kinase activity|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of mitosis|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein autophosphorylation|positive regulation of protein tyrosine kinase activity|positive regulation of reactive oxygen species metabolic process|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|positive regulation of transcription, DNA-dependent|reactive oxygen species metabolic process|transforming growth factor beta receptor signaling pathway	basolateral plasma membrane|cell surface|endoplasmic reticulum lumen|extracellular region|Golgi membrane|platelet alpha granule lumen	collagen binding|eukaryotic cell surface binding|growth factor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein heterodimerization activity|protein homodimerization activity|superoxide-generating NADPH oxidase activator activity	g.chr22:39626111C>T		CCDS13987.1, CCDS33650.1	22q13.1	2012-10-02	2011-05-19		ENSG00000100311	ENSG00000100311			8800	protein-coding gene	gene with protein product	"oncogene SIS", "becaplermin"	190040	"platelet-derived growth factor beta polypeptide (simian sarcoma viral (v-sis) oncogene homolog)"	SIS		2991848, 1661670	Standard	NM_002608		Approved	SSV	uc003axf.3	P01127	OTTHUMG00000151029	ENST00000331163.6:c.579G>A	22.37:g.39626111C>T						PDGFB_ENST00000381551.4_Silent_p.P178P	p.P193P	NM_002608.2	NP_002599.1	P01127	PDGFB_HUMAN			5	1366	-	Melanoma(58;0.04)		193					G3XAG8|P78431|Q15354|Q6FHE7|Q9UF23	Silent	SNP	ENST00000331163.6	37	c.579G>A	CCDS13987.1																																																																																				0.622	PDGFB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321043.1	NM_002608		11	109	0	0	0	0.000978	0	11	109					T	39626111	C	T	39626111	2	4	155	1	0	0	0	0	0	0	0	1	11658	639	23	2		2	PDGFB	22	39626111	Silent	SNP	C	TCGA-G9-6343-01A-21D-1961-08	2362619	39626111	11678455	35	7572											
EFCAB6	64800	broad.mit.edu	37	chr22	44127674	44127674	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctgcagtatccttgtggatgTtgtagtgtttcgaaaaccta	9	15	10	7	1	0	0	0	0	0	0	2	2	1	1	2	1	2	5	2	1	5	6	rs150224112		TCGA-G9-6343-01A-21D-1961-08	TCGA-G9-6343-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdb78cfc-4a29-488a-b215-a4996b3ab873	e4bf7fcc-99b3-4e83-8336-2caacc77a011	g.chr22:44127674T>C	ENST00000262726.7	-	8	915	c.662A>G	c.(661-663)aAc>aGc	p.N221S	EFCAB6_ENST00000356087.4_Missense_Mutation_p.N115S|EFCAB6_ENST00000358439.4_Missense_Mutation_p.N115S|EFCAB6_ENST00000396231.2_Missense_Mutation_p.N69S	NM_022785.3	NP_073622.2	Q5THR3	EFCB6_HUMAN	EF-hand calcium binding domain 6	221					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68		Ovarian(80;0.0247)|all_neural(38;0.025)				CTTGTGGATGTTGTAGTGTTT	0.323																																						ENST00000262726.7																			0				breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68						c.(661-663)aAc>aGc		EF-hand calcium binding domain 6		T	SER/ASN,SER/ASN	0,4404		0,0,2202	124	113	117		662,206	-1.8	0.1	22	dbSNP_134	117	1,8597	1.2+/-3.3	0,1,4298	no	missense,missense	EFCAB6	NM_022785.3,NM_198856.2	46,46	0,1,6500	CC,CT,TT		0.0116,0.0,0.0077	probably-damaging,probably-damaging	221/1502,69/1350	44127674	1,13001	2202	4299	6501	SO:0001583	missense	64800				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	calcium ion binding	g.chr22:44127674T>C	Z82201	CCDS14049.1, CCDS14050.1	22q13.2	2013-01-10			ENSG00000186976	ENSG00000186976		"EF-hand domain containing"	24204	protein-coding gene	gene with protein product						11258795, 12612053	Standard	NM_022785		Approved	FLJ23588, DJBP, HSCBCIP1, KIAA1672, dJ185D5.1	uc003bdy.2	Q5THR3	OTTHUMG00000150522	ENST00000262726.7:c.662A>G	22.37:g.44127674T>C	ENSP00000262726:p.Asn221Ser					EFCAB6_ENST00000396231.2_Missense_Mutation_p.N69S|EFCAB6_ENST00000356087.4_Missense_Mutation_p.N115S|EFCAB6_ENST00000358439.4_Missense_Mutation_p.N115S	p.N221S	NM_022785.3	NP_073622.2	Q5THR3	EFCB6_HUMAN			8	915	-		Ovarian(80;0.0247)|all_neural(38;0.025)	221					A8K8P6|A8K8Y3|B0QYI4|B0QYI6|Q5U5T6|Q9BY88|Q9H5C4|Q9NSF5	Missense_Mutation	SNP	ENST00000262726.7	37	c.662A>G	CCDS14049.1	.	.	.	.	.	.	.	.	.	.	T	6.201	0.405272	0.11754	0.0	1.16E-4	ENSG00000186976	ENST00000396231;ENST00000262726;ENST00000358439;ENST00000356087	D;T;T;T	0.82167	-1.58;1.06;1.2;1.06	5.22	-1.78	0.07957	EF-hand-like domain (1);	0.398491	0.23906	N	0.043388	T	0.75087	0.3802	L	0.56769	1.78	0.09310	N	1	B;B;B;B	0.25667	0.037;0.131;0.029;0.007	B;B;B;B	0.22601	0.04;0.033;0.015;0.005	T	0.62124	-0.6920	10	0.32370	T	0.25	-26.3129	10.3669	0.44030	0.0:0.5259:0.0:0.4741	.	115;115;221;221	B4DKR4;B0QYI5;Q5THR3-6;Q5THR3	.;.;.;EFCB6_HUMAN	S	69;221;115;115	ENSP00000379533:N69S;ENSP00000262726:N221S;ENSP00000351219:N115S;ENSP00000348391:N115S	ENSP00000262726:N221S	N	-	2	0	EFCAB6	42459007	0.637000	0.27216	0.051000	0.19133	0.637000	0.38172	0.299000	0.19138	-0.278000	0.09180	0.533000	0.62120	AAC		0.323	EFCAB6-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353176.1	NM_022785		4	36	0	0	0	0.000602	0	4	36					C	44127674	T	C	44127674	3	2	155	1	0	0	0	0	1	0	0	0	4939	1725	60	4	3943	4	EFCAB6	22	44127674	Missense_Mutation	SNP	T	TCGA-G9-6343-01A-21D-1961-08	4501563	44127674	7176892	36	7573											
KLHDC7A	127707	broad.mit.edu	37	chr1	18807930	18807930	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cagaacagctgttggcagtaAccctgaccctccccatttcc	9	9	7	16	0	0	2	0	1	0	1	2	2	2	2	5	1	3	4	5	1	2	3			TCGA-G9-6347-01A-11D-A31L-08	TCGA-G9-6347-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	470a25cd-eea8-4ca6-b91c-86e36397135a	b63236ea-caa8-44c1-ba56-d36c6c394c23	g.chr1:18807930A>G	ENST00000400664.1	+	1	507	c.455A>G	c.(454-456)aAc>aGc	p.N152S		NM_152375.2	NP_689588.2	Q5VTJ3	KLD7A_HUMAN	kelch domain containing 7A	152						integral component of membrane (GO:0016021)				endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	22		Colorectal(325;3.46e-05)|all_lung(284;0.000152)|Lung NSC(340;0.000185)|Breast(348;0.00046)|Renal(390;0.000518)|Ovarian(437;0.0014)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.41e-05)|Kidney(64;0.00017)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		GTTGGCAGTAACCCTGACCCT	0.647																																						ENST00000400664.1																			0				endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	22						c.(454-456)aAc>aGc		kelch domain containing 7A							32	39	37					1																	18807930		2075	4211	6286	SO:0001583	missense	127707					integral to membrane		g.chr1:18807930A>G	AK096072	CCDS185.2	1p36.13	2008-02-05			ENSG00000179023	ENSG00000179023			26791	protein-coding gene	gene with protein product							Standard	NM_152375		Approved	FLJ38753	uc001bax.3	Q5VTJ3	OTTHUMG00000002431	ENST00000400664.1:c.455A>G	1.37:g.18807930A>G	ENSP00000383505:p.Asn152Ser						p.N152S	NM_152375.2	NP_689588.2	Q5VTJ3	KLD7A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.41e-05)|Kidney(64;0.00017)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	1	507	+		Colorectal(325;3.46e-05)|all_lung(284;0.000152)|Lung NSC(340;0.000185)|Breast(348;0.00046)|Renal(390;0.000518)|Ovarian(437;0.0014)|Myeloproliferative disorder(586;0.0255)	152					Q8N8W6	Missense_Mutation	SNP	ENST00000400664.1	37	c.455A>G	CCDS185.2	.	.	.	.	.	.	.	.	.	.	A	11.46	1.644687	0.29246	.	.	ENSG00000179023	ENST00000400664;ENST00000540290	T	0.71934	-0.61	5.33	5.33	0.75918	.	0.644262	0.12274	U	0.483562	T	0.49626	0.1568	N	0.08118	0	0.09310	N	0.999992	B	0.21381	0.055	B	0.16722	0.016	T	0.33727	-0.9857	10	0.31617	T	0.26	.	8.9826	0.35974	0.8351:0.0:0.0:0.1649	.	152	Q5VTJ3	KLD7A_HUMAN	S	152;89	ENSP00000383505:N152S	ENSP00000383505:N152S	N	+	2	0	KLHDC7A	18680517	0.017000	0.18338	0.880000	0.34516	0.201000	0.24016	1.856000	0.39389	2.136000	0.66102	0.482000	0.46254	AAC		0.647	KLHDC7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006923.3	NM_152375		4	71	0	0	0	1	0	4	71					G	18807930	A	G	18807930	3	3	156	1	0	0	0	0	1	0	0	0	8360	43	2	4	457	4	KLHDC7A	1	18807930	Missense_Mutation	SNP	A	TCGA-G9-6347-01A-11D-A31L-08		18807930	230442691	1	7574											
SETDB1	9869	broad.mit.edu	37	chr1	150936826	150936826	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtggggccattgaatgcagaGgacgtcttctttagaggaca	10	10	14	7	1	2	3	0	1	2	2	2	5	2	5	1	4	1	1	1	4	2	4			TCGA-G9-6347-01A-11D-A31L-08	TCGA-G9-6347-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	470a25cd-eea8-4ca6-b91c-86e36397135a	b63236ea-caa8-44c1-ba56-d36c6c394c23	g.chr1:150936826G>C	ENST00000271640.5	+	22	4052	c.3862G>C	c.(3862-3864)Gga>Cga	p.G1288R	SETDB1_ENST00000368969.4_Missense_Mutation_p.G1287R|CERS2_ENST00000345896.4_5'Flank|CERS2_ENST00000561294.1_Silent_p.S367S|RP11-316M1.12_ENST00000561111.1_RNA|RP11-316M1.12_ENST00000560481.1_RNA	NM_001145415.1|NM_012432.3	NP_001138887.1|NP_036564.3	Q15047	SETB1_HUMAN	SET domain, bifurcated 1	1288	Post-SET. {ECO:0000255|PROSITE- ProRule:PRU00155}.				bone development (GO:0060348)|histone H3-K9 trimethylation (GO:0036124)|inner cell mass cell proliferation (GO:0001833)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)			NS(1)|large_intestine(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|BRCA - Breast invasive adenocarcinoma(12;0.0152)|LUSC - Lung squamous cell carcinoma(543;0.211)			TGAATGCAGAGGACGTCTTCT	0.522																																						ENST00000271640.5																			0				NS(1)|large_intestine(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12						c.(3862-3864)Gga>Cga		SET domain, bifurcated 1							166	128	141					1																	150936826		2203	4300	6503	SO:0001583	missense	9869				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|Golgi apparatus|nucleus|plasma membrane	DNA binding|histone-lysine N-methyltransferase activity|protein binding|zinc ion binding	g.chr1:150936826G>C	D31891	CCDS972.1, CCDS44217.1, CCDS58026.1	1q21	2013-01-23			ENSG00000143379	ENSG00000143379		"Chromatin-modifying enzymes / K-methyltransferases", "Tudor domain containing"	10761	protein-coding gene	gene with protein product	"tudor domain containing 21"	604396				10343109	Standard	NM_001145415		Approved	KG1T, KIAA0067, ESET, KMT1E, TDRD21	uc001evu.2	Q15047	OTTHUMG00000035003	ENST00000271640.5:c.3862G>C	1.37:g.150936826G>C	ENSP00000271640:p.Gly1288Arg					CERS2_ENST00000561294.1_Silent_p.S367S|SETDB1_ENST00000368969.4_Missense_Mutation_p.G1287R	p.G1288R	NM_001145415.1|NM_012432.3	NP_001138887.1|NP_036564.3	Q15047	SETB1_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|BRCA - Breast invasive adenocarcinoma(12;0.0152)|LUSC - Lung squamous cell carcinoma(543;0.211)		22	4052	+	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		1288			Post-SET.		A6NEW2|Q5SZD8|Q5SZD9|Q5SZE0|Q5SZE7|Q96GM9	Missense_Mutation	SNP	ENST00000271640.5	37	c.3862G>C	CCDS44217.1	.	.	.	.	.	.	.	.	.	.	G	25.2	4.615728	0.87359	.	.	ENSG00000143379	ENST00000271640;ENST00000368969	D;D	0.91521	-2.86;-2.83	4.93	4.93	0.64822	Post-SET domain (2);	0.000000	0.85682	D	0.000000	D	0.95354	0.8492	M	0.85777	2.775	0.80722	D	1	P;D	0.89917	0.864;1.0	P;D	0.91635	0.502;0.999	D	0.95361	0.8455	10	0.59425	D	0.04	.	17.9225	0.88972	0.0:0.0:1.0:0.0	.	1287;1288	Q15047-3;Q15047	.;SETB1_HUMAN	R	1288;1287	ENSP00000271640:G1288R;ENSP00000357965:G1287R	ENSP00000271640:G1288R	G	+	1	0	SETDB1	149203450	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	6.424000	0.73366	2.565000	0.86533	0.462000	0.41574	GGA		0.522	SETDB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000084717.2			6	23	0	0	0	1	0	6	23					C	150936826	G	C	150936826	3	2	156	1	0	0	0	0	1	0	0	0	14138	1001	35	5	3944	5	SETDB1	1	150936826	Missense_Mutation	SNP	G	TCGA-G9-6347-01A-11D-A31L-08	132128896	150936826	98313795	2	7575											
OBSCN	84033	broad.mit.edu	37	chr1	228466419	228466419	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgaccctcgtgcgcccgctgCgggacaagattgccatggag	7	7	14	13	4	0	2	0	1	0	1	1	4	0	4	3	2	3	1	3	2	1	1			TCGA-G9-6347-01A-11D-A31L-08	TCGA-G9-6347-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	470a25cd-eea8-4ca6-b91c-86e36397135a	b63236ea-caa8-44c1-ba56-d36c6c394c23	g.chr1:228466419C>T	ENST00000422127.1	+	26	6933	c.6889C>T	c.(6889-6891)Cgg>Tgg	p.R2297W	OBSCN_ENST00000570156.2_Missense_Mutation_p.R2726W|OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000284548.11_Missense_Mutation_p.R2297W|OBSCN_ENST00000359599.6_Missense_Mutation_p.R1144W|RP5-1139B12.3_ENST00000602947.1_RNA|RP5-1139B12.3_ENST00000602529.1_RNA|OBSCN_ENST00000366707.4_5'UTR	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	2297	Ig-like 23.				apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GCGCCCGCTGCGGGACAAGAT	0.662																																						ENST00000570156.2																			0				NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223						c.(8176-8178)Cgg>Tgg		obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF							43	50	47					1																	228466419		2112	4224	6336	SO:0001583	missense	84033				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	g.chr1:228466419C>T	AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"Rho guanine nucleotide exchange factors", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.6889C>T	1.37:g.228466419C>T	ENSP00000409493:p.Arg2297Trp					OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000359599.6_Missense_Mutation_p.R1144W|OBSCN_ENST00000422127.1_Missense_Mutation_p.R2297W|OBSCN_ENST00000284548.11_Missense_Mutation_p.R2297W|OBSCN_ENST00000366709.4_5'UTR	p.R2726W	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN			31	8250	+		Prostate(94;0.0405)	1724			Ig-like 26.		Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Missense_Mutation	SNP	ENST00000422127.1	37	c.8176C>T	CCDS58065.1	.	.	.	.	.	.	.	.	.	.	C	14.07	2.425606	0.43020	.	.	ENSG00000154358	ENST00000284548;ENST00000422127;ENST00000359599	T;T;T	0.69040	-0.37;-0.37;-0.37	3.92	0.395	0.16304	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);	0.000000	0.64402	D	0.000011	D	0.82719	0.5098	M	0.90705	3.14	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.957;0.997	D	0.85372	0.1114	10	0.66056	D	0.02	.	13.5531	0.61745	0.4033:0.5967:0.0:0.0	.	2297;2297	Q5VST9;Q5VST9-3	OBSCN_HUMAN;.	W	2297;2297;1144	ENSP00000284548:R2297W;ENSP00000409493:R2297W;ENSP00000352613:R1144W	ENSP00000284548:R2297W	R	+	1	2	OBSCN	226533042	0.925000	0.31364	0.938000	0.37757	0.627000	0.37826	0.052000	0.14163	0.296000	0.22592	0.289000	0.19496	CGG		0.662	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843		5	79	0	0	0	1	0	5	79					T	228466419	C	T	228466419	3	4	156	1	0	0	0	0	1	0	0	0	10812	759	27	1	6987	1	OBSCN	1	228466419	Missense_Mutation	SNP	C	TCGA-G9-6347-01A-11D-A31L-08	77529593	228466419	20784202	3	7576											
KIF3C	3797	broad.mit.edu	37	chr2	26203359	26203359	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcaccaggctgcggtcatcCtggatggctgccttctcctc	4	11	10	16	1	3	0	2	0	1	0	6	1	4	1	4	4	2	2	4	4	0	1			TCGA-G9-6347-01A-11D-A31L-08	TCGA-G9-6347-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	470a25cd-eea8-4ca6-b91c-86e36397135a	b63236ea-caa8-44c1-ba56-d36c6c394c23	g.chr2:26203359C>T	ENST00000264712.3	-	1	2007	c.1428G>A	c.(1426-1428)caG>caA	p.Q476Q	KIF3C_ENST00000405914.1_Silent_p.Q476Q	NM_002254.6	NP_002245	O14782	KIF3C_HUMAN	kinesin family member 3C	476					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|organelle transport along microtubule (GO:0072384)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGCGGTCATCCTGGATGGCTG	0.617																																						ENST00000264712.3																			0				breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(1426-1428)caG>caA		kinesin family member 3C							76	76	76					2																	26203359		2203	4300	6503	SO:0001819	synonymous_variant	3797				blood coagulation|microtubule-based movement	cytosol|kinesin complex|microtubule	ATP binding|microtubule motor activity	g.chr2:26203359C>T		CCDS1719.1	2p23	2008-02-05			ENSG00000084731	ENSG00000084731		"Kinesins"	6321	protein-coding gene	gene with protein product		602845				9480755	Standard	NM_002254		Approved		uc002rgu.2	O14782	OTTHUMG00000094797	ENST00000264712.3:c.1428G>A	2.37:g.26203359C>T						KIF3C_ENST00000405914.1_Silent_p.Q476Q	p.Q476Q	NM_002254.6	NP_002245.4	O14782	KIF3C_HUMAN			1	2007	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		476					O43544|Q4ZG18|Q53SX5|Q562F7	Silent	SNP	ENST00000264712.3	37	c.1428G>A	CCDS1719.1																																																																																				0.617	KIF3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211611.1			6	123	0	0	0	1	0	6	123					T	26203359	C	T	26203359	2	4	156	1	0	0	0	0	0	0	0	1	8302	680	24	3		3	KIF3C	2	26203359	Silent	SNP	C	TCGA-G9-6347-01A-11D-A31L-08		26203359	216996014	4	7577											
R3HDM1	23518	broad.mit.edu	37	chr2	136481598	136481598	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggggaactctttaaaattggCgccaagatccggtggctccg	9	9	13	10	3	1	1	0	0	1	1	3	2	3	2	3	5	1	1	3	5	4	3			TCGA-G9-6347-01A-11D-A31L-08	TCGA-G9-6347-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	470a25cd-eea8-4ca6-b91c-86e36397135a	b63236ea-caa8-44c1-ba56-d36c6c394c23	g.chr2:136481598C>T	ENST00000264160.4	+	26	3406	c.3036C>T	c.(3034-3036)ggC>ggT	p.G1012G	R3HDM1_ENST00000410054.1_Silent_p.G957G|R3HDM1_ENST00000409478.1_Silent_p.G884G|R3HDM1_ENST00000409606.1_Silent_p.G1013G|R3HDM1_ENST00000329971.3_Silent_p.G883G	NM_001282798.1|NM_015361.2	NP_001269727.1|NP_056176.2	Q15032	R3HD1_HUMAN	R3H domain containing 1	1012							poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(6)|kidney(5)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	38				BRCA - Breast invasive adenocarcinoma(221;0.127)		TTAAAATTGGCGCCAAGATCC	0.517																																						ENST00000264160.4																			0				breast(2)|endometrium(6)|kidney(5)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	38						c.(3034-3036)ggC>ggT		R3H domain containing 1							65	75	72					2																	136481598		2203	4300	6503	SO:0001819	synonymous_variant	23518						nucleic acid binding	g.chr2:136481598C>T	D21852	CCDS2177.1, CCDS63024.1, CCDS63025.1, CCDS63026.1	2q21.3	2012-09-20	2005-09-02	2005-09-02	ENSG00000048991	ENSG00000048991			9757	protein-coding gene	gene with protein product			"R3H domain (binds single-stranded nucleic acids) containing"	R3HDM		7584026	Standard	NM_001282798		Approved	KIAA0029	uc002tuo.3	Q15032	OTTHUMG00000131740	ENST00000264160.4:c.3036C>T	2.37:g.136481598C>T						R3HDM1_ENST00000410054.1_Silent_p.G957G|R3HDM1_ENST00000409606.1_Silent_p.G1013G|R3HDM1_ENST00000329971.3_Silent_p.G883G|R3HDM1_ENST00000409478.1_Silent_p.G884G	p.G1012G	NM_015361.2	NP_056176.2	Q15032	R3HD1_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.127)	26	3406	+			1012					A8K1V0|B3KXQ9|E9PBB4|E9PG42|G5E9G8|Q8IW32	Silent	SNP	ENST00000264160.4	37	c.3036C>T	CCDS2177.1	.	.	.	.	.	.	.	.	.	.	C	5.379	0.255103	0.10185	.	.	ENSG00000048991	ENST00000429703	.	.	.	5.5	0.432	0.16529	.	.	.	.	.	T	0.42291	0.1196	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.22941	-1.0202	4	.	.	.	-10.0543	1.8292	0.03127	0.1307:0.3577:0.1285:0.3832	.	.	.	.	C	736	.	.	R	+	1	0	R3HDM1	136198068	0.986000	0.35501	0.999000	0.59377	0.992000	0.81027	0.196000	0.17176	0.087000	0.17167	-0.265000	0.10407	CGC		0.517	R3HDM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254659.1	NM_015361		4	110	0	0	0	1	0	4	110					T	136481598	C	T	136481598	2	4	156	1	0	0	0	0	0	0	0	1	12887	755	27	1		1	R3HDM1	2	136481598	Silent	SNP	C	TCGA-G9-6347-01A-11D-A31L-08	110278239	136481598	106717775	5	7578											
SF3B1	23451	broad.mit.edu	37	chr2	198265579	198265579	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttttctgtactgttcggcttCatctttcagatcatccacaa	8	17	5	11	1	5	1	3	0	2	1	7	1	6	1	1	1	1	3	1	1	2	6			TCGA-G9-6347-01A-11D-A31L-08	TCGA-G9-6347-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	470a25cd-eea8-4ca6-b91c-86e36397135a	b63236ea-caa8-44c1-ba56-d36c6c394c23	g.chr2:198265579C>T	ENST00000335508.6	-	18	2669	c.2578G>A	c.(2578-2580)Gaa>Aaa	p.E860K	SF3B1_ENST00000462613.1_5'Flank	NM_012433.2	NP_036565.2	O75533	SF3B1_HUMAN	splicing factor 3b, subunit 1, 155kDa	860					anterior/posterior pattern specification (GO:0009952)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U12-type spliceosomal complex (GO:0005689)	chromatin binding (GO:0003682)|poly(A) RNA binding (GO:0044822)			NS(35)|breast(10)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(524)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|pancreas(4)|prostate(6)|salivary_gland(1)|skin(4)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	633			OV - Ovarian serous cystadenocarcinoma(117;0.246)			TGTTCGGCTTCATCTTTCAGA	0.363			Mis		myelodysplastic syndrome																																	ENST00000335508.5				Dom	yes		2	2q33.1	23451	Mis	"splicing factor 3b, subunit 1, 155kDa"			L			myelodysplastic syndrome		0				NS(35)|breast(10)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(524)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|pancreas(4)|prostate(6)|salivary_gland(1)|skin(4)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	633						c.(2578-2580)Gaa>Aaa		splicing factor 3b, subunit 1, 155kDa							137	134	135					2																	198265579		2203	4300	6503	SO:0001583	missense	23451				nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|nuclear speck|U12-type spliceosomal complex	protein binding	g.chr2:198265579C>T	AF054284	CCDS33356.1, CCDS46479.1	2q33.1	2014-09-17	2002-08-29		ENSG00000115524	ENSG00000115524			10768	protein-coding gene	gene with protein product		605590	"splicing factor 3b, subunit 1, 155kD"			9585501	Standard	XM_005246428		Approved	SAP155, SF3b155, PRPF10, Prp10, Hsh155	uc002uue.3	O75533	OTTHUMG00000154447	ENST00000335508.6:c.2578G>A	2.37:g.198265579C>T	ENSP00000335321:p.Glu860Lys						p.E860K	NM_012433.2	NP_036565.2	O75533	SF3B1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.246)		18	2669	-			860					E9PCH3	Missense_Mutation	SNP	ENST00000335508.6	37	c.2578G>A	CCDS33356.1	.	.	.	.	.	.	.	.	.	.	C	23.8	4.459891	0.84317	.	.	ENSG00000115524	ENST00000335508	T	0.65364	-0.15	5.77	5.77	0.91146	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.82125	0.4969	M	0.89030	3	0.80722	D	1	D	0.58268	0.982	P	0.61477	0.889	D	0.83901	0.0290	10	0.62326	D	0.03	.	20.3627	0.98863	0.0:1.0:0.0:0.0	.	860	O75533	SF3B1_HUMAN	K	860	ENSP00000335321:E860K	ENSP00000335321:E860K	E	-	1	0	SF3B1	197973824	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.717000	0.84732	2.885000	0.99019	0.655000	0.94253	GAA		0.363	SF3B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335245.2			14	67	0	0	0	1	0	14	67					T	198265579	C	T	198265579	3	4	156	1	0	0	0	0	1	0	0	0	14149	835	29	3	1368	3	SF3B1	2	198265579	Missense_Mutation	SNP	C	TCGA-G9-6347-01A-11D-A31L-08	61783981	198265579	44933794	6	7579											
CDK5R2	8941	broad.mit.edu	37	chr2	219825271	219825271	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gtgttcgtgtacctgctgtgCcgcgagtcgctgcgtgggga	3	11	17	10	5	0	0	0	0	0	0	2	2	0	1	2	2	4	4	2	2	1	2			TCGA-G9-6347-01A-11D-A31L-08	TCGA-G9-6347-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	470a25cd-eea8-4ca6-b91c-86e36397135a	b63236ea-caa8-44c1-ba56-d36c6c394c23	g.chr2:219825271C>T	ENST00000302625.4	+	1	895	c.729C>T	c.(727-729)tgC>tgT	p.C243C	AC097468.7_ENST00000429343.1_RNA	NM_003936.4	NP_003927.1	Q13319	CD5R2_HUMAN	cyclin-dependent kinase 5, regulatory subunit 2 (p39)	243					cerebellum development (GO:0021549)|hippocampus development (GO:0021766)|layer formation in cerebral cortex (GO:0021819)|neuron migration (GO:0001764)|positive regulation of calcium ion-dependent exocytosis (GO:0045956)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|superior olivary nucleus maturation (GO:0021722)	cyclin-dependent protein kinase 5 holoenzyme complex (GO:0016533)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	cyclin-dependent protein kinase 5 activator activity (GO:0016534)|lipid binding (GO:0008289)			central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(1)|ovary(1)	8		Renal(207;0.0474)		Epithelial(149;9.77e-07)|all cancers(144;0.000167)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		ACCTGCTGTGCCGCGAGTCGC	0.662																																						ENST00000302625.4																			0				central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(1)|ovary(1)	8						c.(727-729)tgC>tgT		cyclin-dependent kinase 5, regulatory subunit 2 (p39)							93	94	94					2																	219825271		2203	4300	6503	SO:0001819	synonymous_variant	8941				regulation of cyclin-dependent protein kinase activity	cyclin-dependent protein kinase 5 holoenzyme complex	cyclin-dependent protein kinase 5 activator activity	g.chr2:219825271C>T	U34051	CCDS2427.1	2q35	2008-05-22			ENSG00000171450	ENSG00000171450			1776	protein-coding gene	gene with protein product	"neuronal CDK5 activator isoform"	603764				7592934	Standard	NM_003936		Approved	p39nck5ai, P39, NCK5AI	uc002vjf.4	Q13319	OTTHUMG00000133083	ENST00000302625.4:c.729C>T	2.37:g.219825271C>T						AC097468.7_ENST00000429343.1_RNA	p.C243C	NM_003936.4	NP_003927.1	Q13319	CD5R2_HUMAN		Epithelial(149;9.77e-07)|all cancers(144;0.000167)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	1	895	+		Renal(207;0.0474)	243					Q4ZFW6	Silent	SNP	ENST00000302625.4	37	c.729C>T	CCDS2427.1																																																																																				0.662	CDK5R2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256728.1	NM_003936		5	227	0	0	0	1	0	5	227					T	219825271	C	T	219825271	2	4	156	1	0	0	0	0	0	0	0	1	3144	747	26	3		3	CDK5R2	2	219825271	Silent	SNP	C	TCGA-G9-6347-01A-11D-A31L-08	21559692	219825271	23374102	7	7580											
SCN5A	6331	broad.mit.edu	37	chr3	38627374	38627374	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcgctgtccctcagctccgaGtagttcttgccaaagagctg	7	11	10	13	2	2	1	1	0	1	1	5	2	4	1	3	0	3	5	3	0	2	3			TCGA-G9-6347-01A-11D-A31L-08	TCGA-G9-6347-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	470a25cd-eea8-4ca6-b91c-86e36397135a	b63236ea-caa8-44c1-ba56-d36c6c394c23	g.chr3:38627374G>A	ENST00000333535.4	-	16	2744	c.2595C>T	c.(2593-2595)taC>taT	p.Y865Y	SCN5A_ENST00000443581.1_Silent_p.Y865Y|SCN5A_ENST00000450102.2_Silent_p.Y865Y|SCN5A_ENST00000413689.1_Silent_p.Y865Y|SCN5A_ENST00000451551.2_Silent_p.Y865Y|SCN5A_ENST00000414099.2_Silent_p.Y865Y|SCN5A_ENST00000423572.2_Silent_p.Y865Y|SCN5A_ENST00000425664.1_Silent_p.Y865Y|SCN5A_ENST00000449557.2_Silent_p.Y865Y|SCN5A_ENST00000455624.2_Silent_p.Y865Y			Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	865					AV node cell to bundle of His cell communication (GO:0086067)|brainstem development (GO:0003360)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cardiac muscle cell action potential involved in contraction (GO:0086002)|cardiac muscle contraction (GO:0060048)|cardiac ventricle development (GO:0003231)|cellular response to calcium ion (GO:0071277)|cerebellum development (GO:0021549)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane depolarization during SA node cell action potential (GO:0086046)|neuronal action potential (GO:0019228)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of action potential (GO:0045760)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of sodium ion transport (GO:0010765)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of sodium ion transmembrane transport (GO:1902305)|regulation of ventricular cardiac muscle cell membrane depolarization (GO:0060373)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|telencephalon development (GO:0021537)|ventricular cardiac muscle cell action potential (GO:0086005)	caveola (GO:0005901)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	ankyrin binding (GO:0030506)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|fibroblast growth factor binding (GO:0017134)|ion channel binding (GO:0044325)|nitric-oxide synthase binding (GO:0050998)|protein kinase binding (GO:0019901)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)|voltage-gated sodium channel activity (GO:0005248)|voltage-gated sodium channel activity involved in cardiac muscle cell action potential (GO:0086006)			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Ajmaline(DB01426)|Aprindine(DB01429)|Benzonatate(DB00868)|Carbamazepine(DB00564)|Cinchocaine(DB00527)|Cocaine(DB00907)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lidocaine(DB00281)|Mexiletine(DB00379)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine barbiturate(DB01346)|Quinidine(DB00908)|Ranolazine(DB00243)|Riluzole(DB00740)|Tocainide(DB01056)|Valproic Acid(DB00313)|Verapamil(DB00661)|Zonisamide(DB00909)	TCAGCTCCGAGTAGTTCTTGC	0.562																																						ENST00000413689.1																			0				NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107						c.(2593-2595)taC>taT		sodium channel, voltage-gated, type V, alpha subunit	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)						172	167	168					3																	38627374		2203	4300	6503	SO:0001819	synonymous_variant	6331				blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity	g.chr3:38627374G>A	AJ310893	CCDS46796.1, CCDS46797.1, CCDS46798.1, CCDS46799.1, CCDS54569.1, CCDS54570.1	3p21	2014-09-17	2007-01-23		ENSG00000183873	ENSG00000183873		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10593	protein-coding gene	gene with protein product	"long QT syndrome 3"	600163	"sodium channel, voltage-gated, type V, alpha (long QT syndrome 3)"	CMD1E		7842012, 15466643, 16382098	Standard	NM_198056		Approved	Nav1.5, LQT3, HB1, HBBD, PFHB1, IVF, HB2, HH1, SSS1, CDCD2, CMPD2, ICCD	uc021wvl.1	Q14524	OTTHUMG00000156166	ENST00000333535.4:c.2595C>T	3.37:g.38627374G>A						SCN5A_ENST00000414099.2_Silent_p.Y865Y|SCN5A_ENST00000455624.2_Silent_p.Y865Y|SCN5A_ENST00000425664.1_Silent_p.Y865Y|SCN5A_ENST00000451551.2_Silent_p.Y865Y|SCN5A_ENST00000333535.4_Silent_p.Y865Y|SCN5A_ENST00000450102.2_Silent_p.Y865Y|SCN5A_ENST00000449557.2_Silent_p.Y865Y|SCN5A_ENST00000443581.1_Silent_p.Y865Y|SCN5A_ENST00000423572.2_Silent_p.Y865Y	p.Y865Y	NM_001099404.1|NM_001160160.1	NP_001092874.1|NP_001153632.1	Q14524	SCN5A_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	16	2788	-	Medulloblastoma(35;0.163)		865					A5H1P8|A6N922|A6N923|B2RTU0|E7ET19|E9PEF3|E9PEK2|E9PFW7|Q59H93|Q75RX9|Q75RY0|Q86UR3|Q8IZC9|Q96J69	Silent	SNP	ENST00000333535.4	37	c.2595C>T	CCDS46796.1																																																																																				0.562	SCN5A-014	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000377958.1	NM_198056		9	127	0	0	0	1	0	9	127					A	38627374	G	A	38627374	2	1	156	1	0	0	0	0	0	0	0	1	13922	1024	36	3		3	SCN5A	3	38627374	Silent	SNP	G	TCGA-G9-6347-01A-11D-A31L-08		38627374	159395056	8	7581											
CD200R1L	344807	broad.mit.edu	37	chr3	112546303	112546303	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgtcatgagtggtgtccaccGgacgaatctgaaggtccgaa	10	8	13	10	4	2	2	1	2	1	0	4	5	4	3	3	3	0	0	3	3	3	0	rs199566328	byFrequency	TCGA-G9-6347-01A-11D-A31L-08	TCGA-G9-6347-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	470a25cd-eea8-4ca6-b91c-86e36397135a	b63236ea-caa8-44c1-ba56-d36c6c394c23	g.chr3:112546303G>A	ENST00000398214.1	-	3	566	c.341C>T	c.(340-342)cCg>cTg	p.P114L	CD200R1L_ENST00000488794.1_Missense_Mutation_p.P93L|CD200R1L_ENST00000448932.1_Missense_Mutation_p.P93L	NM_001008784.2	NP_001008784.2	Q6Q8B3	MO2R2_HUMAN	CD200 receptor 1-like	114	Ig-like V-type.					integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|urinary_tract(2)	19						GGTGTCCACCGGACGAATCTG	0.453													G|||	2	0.000399361	8e-04	0	5008	,	,		19896	0.001		0	False		,,,				2504	0					ENST00000488794.1																			0				breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|urinary_tract(2)	19						c.(277-279)cCg>cTg		CD200 receptor 1-like		G	LEU/PRO,LEU/PRO	1,4405	2.1+/-5.4	0,1,2202	148	144	145		341,278	3.1	0.2	3		145	0,8600		0,0,4300	yes	missense,missense	CD200R1L	NM_001008784.2,NM_001199215.1	98,98	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging	114/272,93/251	112546303	1,13005	2203	4300	6503	SO:0001583	missense	344807					integral to membrane	receptor activity	g.chr3:112546303G>A	AY284976	CCDS43131.1, CCDS56267.1	3q13.2	2014-05-15	2008-10-08		ENSG00000206531	ENSG00000206531		"Immunoglobulin superfamily / C2-set domain containing"	24665	protein-coding gene	gene with protein product	"CD200 receptor 2"						Standard	NM_001008784		Approved	CD200RLa, CD200R2	uc003dzi.1	Q6Q8B3	OTTHUMG00000159283	ENST00000398214.1:c.341C>T	3.37:g.112546303G>A	ENSP00000381272:p.Pro114Leu					CD200R1L_ENST00000398214.1_Missense_Mutation_p.P114L|CD200R1L_ENST00000448932.1_Missense_Mutation_p.P93L	p.P93L			Q6Q8B3	MO2R2_HUMAN			5	867	-			114			Ig-like V-type.		Q6WHB7	Missense_Mutation	SNP	ENST00000398214.1	37	c.278C>T	CCDS43131.1	.	.	.	.	.	.	.	.	.	.	G	16.77	3.214609	0.58452	2.27E-4	0.0	ENSG00000206531	ENST00000398214;ENST00000488794;ENST00000448932	T;T;T	0.30448	1.53;1.53;1.53	3.99	3.08	0.35506	Immunoglobulin-like fold (1);	0.578559	0.17694	N	0.165145	T	0.37999	0.1024	L	0.55990	1.75	0.24729	N	0.993108	D	0.76494	0.999	P	0.53006	0.715	T	0.13710	-1.0499	10	0.54805	T	0.06	.	9.5327	0.39205	0.0:0.2154:0.7846:0.0	.	114	Q6Q8B3	MO2R2_HUMAN	L	114;93;93	ENSP00000381272:P114L;ENSP00000418413:P93L;ENSP00000415132:P93L	ENSP00000381272:P114L	P	-	2	0	CD200R1L	114028993	0.583000	0.26757	0.211000	0.23655	0.068000	0.16541	1.189000	0.32114	0.963000	0.38082	0.655000	0.94253	CCG		0.453	CD200R1L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000354365.1	NM_001008784		5	81	0	0	0	1	0	5	81					A	112546303	G	A	112546303	3	1	156	1	0	0	0	0	1	0	0	0	2982	1116	39	2	490	2	CD200R1L	3	112546303	Missense_Mutation	SNP	G	TCGA-G9-6347-01A-11D-A31L-08	73918929	112546303	85476127	9	7582											
MYLK	4638	broad.mit.edu	37	chr3	123383037	123383037	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagccgcagtgctcctggcgCgcggccaggatggtgagctt	5	7	16	13	4	0	1	0	1	0	0	1	2	1	2	3	4	3	3	3	4	0	1	rs563116446		TCGA-G9-6347-01A-11D-A31L-08	TCGA-G9-6347-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	470a25cd-eea8-4ca6-b91c-86e36397135a	b63236ea-caa8-44c1-ba56-d36c6c394c23	g.chr3:123383037C>T	ENST00000475616.1	-	20	3899	c.3900G>A	c.(3898-3900)gcG>gcA	p.A1300A	MYLK_ENST00000360304.3_Silent_p.A1300A|MYLK_ENST00000354792.5_Silent_p.A100A|MYLK_ENST00000360772.3_Silent_p.A1300A|MYLK_ENST00000510775.1_5'Flank|MYLK_ENST00000346322.5_Silent_p.A1231A|MYLK_ENST00000359169.1_Silent_p.A1300A			Q15746	MYLK_HUMAN	myosin light chain kinase	1300	Actin-binding (calcium/calmodulin- insensitive). {ECO:0000250}.|Ig-like C2-type 8.			A -> G (in Ref. 1; CAA59685). {ECO:0000305}.	actin filament organization (GO:0007015)|aorta smooth muscle tissue morphogenesis (GO:0060414)|bleb assembly (GO:0032060)|cellular hypotonic response (GO:0071476)|muscle contraction (GO:0006936)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cell migration (GO:0030335)|positive regulation of wound healing (GO:0090303)|protein phosphorylation (GO:0006468)|smooth muscle contraction (GO:0006939)|tonic smooth muscle contraction (GO:0014820)	cell-cell junction (GO:0005911)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|metal ion binding (GO:0046872)|myosin light chain kinase activity (GO:0004687)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		GCTCCTGGCGCGCGGCCAGGA	0.627													C|||	1	0.000199681	0	0	5008	,	,		19042	0		0.001	False		,,,				2504	0					ENST00000360772.3																			0				NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113						c.(3898-3900)gcG>gcA		myosin light chain kinase							136	130	132					3																	123383037		2203	4300	6503	SO:0001819	synonymous_variant	4638				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity	g.chr3:123383037C>T	X85337	CCDS3023.1, CCDS43141.1, CCDS46896.1, CCDS46897.1, CCDS58849.1	3q21	2013-02-11	2008-01-23		ENSG00000065534	ENSG00000065534	2.7.11.18	"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	7590	protein-coding gene	gene with protein product	"smooth muscle myosin light chain kinase"	600922	"myosin, light polypeptide kinase"			8575746	Standard	NM_053026		Approved	MLCK, smMLCK, MYLK1, MLCK1	uc003ego.3	Q15746	OTTHUMG00000141304	ENST00000475616.1:c.3900G>A	3.37:g.123383037C>T						MYLK_ENST00000475616.1_Silent_p.A1300A|MYLK_ENST00000360304.3_Silent_p.A1300A|MYLK_ENST00000359169.1_Silent_p.A1300A|MYLK_ENST00000354792.5_Silent_p.A100A|MYLK_ENST00000346322.5_Silent_p.A1231A	p.A1300A			Q15746	MYLK_HUMAN		GBM - Glioblastoma multiforme(114;0.0736)	24	4278	-		Lung NSC(201;0.0496)	1300	A -> G (in Ref. 1; CAA59685).		Actin-binding (calcium/calmodulin- insensitive) (By similarity).|Ig-like C2-type 8.		B4DUE3|D3DN97|O95796|O95797|O95798|O95799|Q14844|Q16794|Q17S15|Q3ZCP9|Q5MY99|Q5MYA0|Q6P2N0|Q7Z4J0|Q9C0L5|Q9UBG5|Q9UBY6|Q9UIT9	Silent	SNP	ENST00000475616.1	37	c.3900G>A	CCDS46896.1																																																																																				0.627	MYLK-004	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356464.1	NM_053025		23	216	0	0	0	1	0	23	216					T	123383037	C	T	123383037	2	4	156	1	0	0	0	0	0	0	0	1	10056	755	27	1		1	MYLK	3	123383037	Silent	SNP	C	TCGA-G9-6347-01A-11D-A31L-08	10836734	123383037	74639393	10	7583											
PET112L	5188	broad.mit.edu	37	chr4	152592397	152592397	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcggctttgagtcgctttccGgaccaacccaatcagtttat	8	13	8	12	3	1	1	1	1	0	0	4	2	2	2	3	2	1	3	3	2	3	4	rs377007052		TCGA-G9-6347-01A-11D-A31L-08	TCGA-G9-6347-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	470a25cd-eea8-4ca6-b91c-86e36397135a	b63236ea-caa8-44c1-ba56-d36c6c394c23	g.chr4:152592397G>A	ENST00000515812.1	-	12	1496	c.1480C>T	c.(1480-1482)Cgg>Tgg	p.R494W	RP11-164P12.4_ENST00000508664.1_RNA|PET112_ENST00000263985.6_Missense_Mutation_p.R535W|PET112_ENST00000507592.1_5'UTR																breast(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	23						GTCGCTTTCCGGACCAACCCA	0.448																																						ENST00000263985.6																			0				breast(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	23						c.(1603-1605)Cgg>Tgg		PET112 homolog (yeast)	L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	G	TRP/ARG	0,4406		0,0,2203	134	130	131		1603	5	1	4		131	1,8599	1.2+/-3.3	0,1,4299	no	missense	PET112	NM_004564.2	101	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	535/558	152592397	1,13005	2203	4300	6503	SO:0001583	missense	5188					mitochondrion	ATP binding|carbon-nitrogen ligase activity, with glutamine as amido-N-donor|translation factor activity, nucleic acid binding	g.chr4:152592397G>A																												ENST00000515812.1:c.1480C>T	4.37:g.152592397G>A	ENSP00000426859:p.Arg494Trp					PET112_ENST00000515812.1_Missense_Mutation_p.R494W|PET112_ENST00000507592.1_5'UTR	p.R535W	NM_004564.2	NP_004555.1	O75879	GATB_HUMAN			13	1643	-			535						Missense_Mutation	SNP	ENST00000515812.1	37	c.1603C>T		.	.	.	.	.	.	.	.	.	.	G	21.1	4.097204	0.76870	0.0	1.16E-4	ENSG00000059691	ENST00000263985;ENST00000515812	T;T	0.43688	0.94;0.95	5.8	4.96	0.65561	Asn/Gln amidotransferase (2);	0.146950	0.48286	D	0.000191	T	0.55673	0.1935	M	0.63428	1.95	0.80722	D	1	D	0.71674	0.998	P	0.57846	0.828	T	0.60198	-0.7310	10	0.87932	D	0	-14.4399	12.7111	0.57089	0.0771:0.0:0.9229:0.0	.	535	O75879	GATB_HUMAN	W	535;494	ENSP00000263985:R535W;ENSP00000426859:R494W	ENSP00000263985:R535W	R	-	1	2	PET112	152811847	1.000000	0.71417	0.998000	0.56505	0.773000	0.43773	4.242000	0.58714	1.436000	0.47453	0.655000	0.94253	CGG		0.448	PET112-002	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000365672.1			7	120	0	0	0	1	0	7	120					A	152592397	G	A	152592397	3	1	156	1	0	0	0	0	1	0	0	0	11734	1115	39	2	74	2	PET112L	4	152592397	Missense_Mutation	SNP	G	TCGA-G9-6347-01A-11D-A31L-08		152592397	38561879	11	7584											
PCDHA7	56141	broad.mit.edu	37	chr5	140215658	140215658	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	acgagaacgacaacgcgccgGcactgctggcgcctcgggtg	8	4	15	14	7	0	1	0	0	0	1	1	3	0	1	2	3	3	2	2	3	2	0			TCGA-G9-6347-01A-11D-A31L-08	TCGA-G9-6347-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	470a25cd-eea8-4ca6-b91c-86e36397135a	b63236ea-caa8-44c1-ba56-d36c6c394c23	g.chr5:140215658G>T	ENST00000525929.1	+	1	1690	c.1690G>T	c.(1690-1692)Gca>Tca	p.A564S	PCDHA4_ENST00000512229.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA7_ENST00000378125.3_Missense_Mutation_p.A564S|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000504120.2_Intron	NM_018910.2	NP_061733.1	Q9UN72	PCDA7_HUMAN	protocadherin alpha 7	564	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAACGCGCCGGCACTGCTGGC	0.687																																					NSCLC(160;258 2013 5070 22440 28951)	ENST00000525929.1																			0				NS(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63						c.(1690-1692)Gca>Tca									83	90	88					5																	140215658		2203	4298	6501	SO:0001583	missense	0							g.chr5:140215658G>T	AF152485	CCDS54918.1	5q31	2010-11-26				ENSG00000204963		"Cadherins / Protocadherins : Clustered"	8673	other	complex locus constituent	"KIAA0345-like 7", "ortholog to mouse CNR4"	606313		CNRS4		10380929, 10662547	Standard	NM_018910		Approved	CNR4, CRNR4		Q9UN72		ENST00000525929.1:c.1690G>T	5.37:g.140215658G>T	ENSP00000436426:p.Ala564Ser					PCDHA1_ENST00000394633.3_Intron|PCDHA7_ENST00000378125.3_Missense_Mutation_p.A564S|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron	p.A564S	NM_018910.2	NP_061733.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1690	+								O75282	Missense_Mutation	SNP	ENST00000525929.1	37	c.1690G>T	CCDS54918.1	.	.	.	.	.	.	.	.	.	.	G	3.019	-0.202120	0.06219	.	.	ENSG00000204963	ENST00000525929;ENST00000378125	T;T	0.37915	1.17;1.17	3.91	0.891	0.19224	Cadherin (3);Cadherin-like (1);	7.921720	0.02726	U	0.114513	T	0.26340	0.0643	N	0.21508	0.67	0.09310	N	1	B;B	0.17465	0.022;0.006	B;B	0.26416	0.069;0.005	T	0.18366	-1.0339	10	0.39692	T	0.17	.	2.9913	0.05983	0.1509:0.1454:0.5551:0.1486	.	564;564	Q9UN72-2;Q9UN72	.;PCDA7_HUMAN	S	564	ENSP00000436426:A564S;ENSP00000367365:A564S	ENSP00000367365:A564S	A	+	1	0	PCDHA7	140195842	0.000000	0.05858	0.006000	0.13384	0.010000	0.07245	-1.640000	0.02009	-0.074000	0.12820	0.313000	0.20887	GCA		0.687	PCDHA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372887.2	NM_018910		19	184	1	0	1.56452e-12	1	1.56452e-12	19	184					T	140215658	G	T	140215658	3	4	156	1	0	0	0	0	1	0	0	0	11529	1203	42	5	1692	5	PCDHA7	5	140215658	Missense_Mutation	SNP	G	TCGA-G9-6347-01A-11D-A31L-08		140215658	40699602	12	7585											
MRPS10	55173	broad.mit.edu	37	chr6	42176031	42176031	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tggcctccctgaggctttatGacttgctttcttctttttct	3	20	7	11	0	3	2	0	2	3	0	4	2	4	2	2	2	1	2	2	2	1	7			TCGA-G9-6347-01A-11D-A31L-08	TCGA-G9-6347-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	470a25cd-eea8-4ca6-b91c-86e36397135a	b63236ea-caa8-44c1-ba56-d36c6c394c23	g.chr6:42176031G>A	ENST00000053468.3	-	7	617	c.602C>T	c.(601-603)tCa>tTa	p.S201L		NM_018141.3	NP_060611.2	P82664	RT10_HUMAN	mitochondrial ribosomal protein S10	201						mitochondrion (GO:0005739)|ribosome (GO:0005840)				endometrium(1)|lung(1)	2	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|Epithelial(12;0.00528)			GAGGCTTTATGACTTGCTTTC	0.393																																						ENST00000053468.3																			0				endometrium(1)|lung(1)	2						c.(601-603)tCa>tTa		mitochondrial ribosomal protein S10							269	270	269					6																	42176031		2203	4300	6503	SO:0001583	missense	55173				translation	actin cytoskeleton|mitochondrion|ribosome	structural constituent of ribosome	g.chr6:42176031G>A		CCDS4866.1	6p21.1	2012-09-13			ENSG00000048544	ENSG00000048544		"Mitochondrial ribosomal proteins / small subunits"	14502	protein-coding gene	gene with protein product		611976				11279123	Standard	NM_018141		Approved	FLJ10567	uc003osa.4	P82664	OTTHUMG00000014694	ENST00000053468.3:c.602C>T	6.37:g.42176031G>A	ENSP00000053468:p.Ser201Leu						p.S201L	NM_018141.3	NP_060611.2	P82664	RT10_HUMAN	Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|Epithelial(12;0.00528)		7	617	-	Colorectal(47;0.196)		201					B2RE89|Q9H3E5|Q9NVR3	Missense_Mutation	SNP	ENST00000053468.3	37	c.602C>T	CCDS4866.1	.	.	.	.	.	.	.	.	.	.	G	10.71	1.426262	0.25726	.	.	ENSG00000048544	ENST00000053468	.	.	.	5.89	4.08	0.47627	.	0.740084	0.12873	N	0.432101	T	0.27489	0.0675	M	0.63428	1.95	0.09310	N	1	B	0.12630	0.006	B	0.08055	0.003	T	0.38090	-0.9677	9	0.87932	D	0	.	10.8085	0.46531	0.072:0.1318:0.7962:0.0	.	201	P82664	RT10_HUMAN	L	201	.	ENSP00000053468:S201L	S	-	2	0	MRPS10	42284009	0.407000	0.25352	0.071000	0.20095	0.060000	0.15804	4.102000	0.57776	0.800000	0.34041	0.563000	0.77884	TCA		0.393	MRPS10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040547.1			10	324	0	0	0	1	0	10	324					A	42176031	G	A	42176031	3	1	156	1	0	0	0	0	1	0	0	0	9821	1294	45	3	7	3	MRPS10	6	42176031	Missense_Mutation	SNP	G	TCGA-G9-6347-01A-11D-A31L-08		42176031	128939036	13	7586											
TIAM2	26230	broad.mit.edu	37	chr6	155561701	155561701	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgcactgtgcaggagttttaAcgacagtcaggccaacggca	11	8	12	10	2	1	0	1	0	0	0	1	2	1	1	1	3	4	4	1	3	2	2			TCGA-G9-6347-01A-11D-A31L-08	TCGA-G9-6347-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	470a25cd-eea8-4ca6-b91c-86e36397135a	b63236ea-caa8-44c1-ba56-d36c6c394c23	g.chr6:155561701A>T	ENST00000461783.3	+	18	4479	c.3206A>T	c.(3205-3207)aAc>aTc	p.N1069I	TIAM2_ENST00000367174.2_Missense_Mutation_p.N445I|TIAM2_ENST00000275246.7_De_novo_Start_OutOfFrame|TIAM2_ENST00000456877.2_Missense_Mutation_p.N381I|TIAM2_ENST00000529824.2_Missense_Mutation_p.N1069I|TIAM2_ENST00000456144.1_Missense_Mutation_p.N1069I|TIAM2_ENST00000360366.4_Missense_Mutation_p.N1093I|TIAM2_ENST00000528391.2_Missense_Mutation_p.N405I|TIAM2_ENST00000318981.5_Missense_Mutation_p.N1069I			Q8IVF5	TIAM2_HUMAN	T-cell lymphoma invasion and metastasis 2	1069					apoptotic signaling pathway (GO:0097190)|cellular lipid metabolic process (GO:0044255)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	cell projection (GO:0042995)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)|receptor signaling protein activity (GO:0005057)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)		AGGAGTTTTAACGACAGTCAG	0.582																																						ENST00000275246.7																			0				breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65								T-cell lymphoma invasion and metastasis 2							79	71	74					6																	155561701		2203	4300	6503	SO:0001583	missense	26230				apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|filopodium|growth cone|lamellipodium	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity	g.chr6:155561701A>T		CCDS34558.1, CCDS34559.1	6q25	2013-01-10			ENSG00000146426	ENSG00000146426		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	11806	protein-coding gene	gene with protein product		604709				10512681	Standard	NM_012454		Approved	STEF	uc003qqe.3	Q8IVF5	OTTHUMG00000015880	ENST00000461783.3:c.3206A>T	6.37:g.155561701A>T	ENSP00000437188:p.Asn1069Ile					TIAM2_ENST00000318981.5_Missense_Mutation_p.N1069I|TIAM2_ENST00000456144.1_Missense_Mutation_p.N1069I|TIAM2_ENST00000461783.3_Missense_Mutation_p.N1069I|TIAM2_ENST00000528391.2_Missense_Mutation_p.N405I|TIAM2_ENST00000367174.2_Missense_Mutation_p.N445I|TIAM2_ENST00000360366.4_Missense_Mutation_p.N1093I|TIAM2_ENST00000529824.2_Missense_Mutation_p.N1069I|TIAM2_ENST00000456877.2_Missense_Mutation_p.N381I		NM_001010927.2	NP_001010927.1	Q8IVF5	TIAM2_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)	0	492	+		Ovarian(120;0.196)						B2RP56|C9JZV2|Q6NXN9|Q6ZUP9|Q9UFG6|Q9UKV9|Q9UKW0	Translation_Start_Site	SNP	ENST00000461783.3	37		CCDS34558.1	.	.	.	.	.	.	.	.	.	.	A	14.03	2.414430	0.42817	.	.	ENSG00000146426	ENST00000461783;ENST00000528928;ENST00000528535;ENST00000456144;ENST00000318981;ENST00000367174;ENST00000360366;ENST00000529824;ENST00000456877;ENST00000528391;ENST00000462408	T;T;T;T;T;T;T;T;T;T	0.18657	3.6;3.49;3.56;3.6;3.43;3.6;3.56;3.43;3.43;2.2	5.22	-4.21	0.03812	.	1.217390	0.05461	N	0.551316	T	0.05547	0.0146	L	0.27053	0.805	0.09310	N	0.999999	B;B;B;B	0.26002	0.005;0.139;0.06;0.086	B;B;B;B	0.24155	0.003;0.051;0.051;0.023	T	0.43393	-0.9394	10	0.54805	T	0.06	.	11.7281	0.51720	0.2712:0.657:0.0717:0.0	.	405;1069;1093;1069	E9PKT1;Q8IVF5-2;Q8IVF5-5;Q8IVF5	.;.;.;TIAM2_HUMAN	I	1069;1315;1069;1069;1069;445;1093;1069;381;405;7	ENSP00000437188:N1069I;ENSP00000434901:N1069I;ENSP00000407746:N1069I;ENSP00000327315:N1069I;ENSP00000356142:N445I;ENSP00000353528:N1093I;ENSP00000433348:N1069I;ENSP00000407183:N381I;ENSP00000435335:N405I;ENSP00000431269:N7I	ENSP00000327315:N1069I	N	+	2	0	TIAM2	155603393	0.000000	0.05858	0.000000	0.03702	0.131000	0.20780	0.029000	0.13666	-0.613000	0.05694	-0.655000	0.03904	AAC		0.582	TIAM2-005	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000387980.2	NM_012454		5	53	0	0	0	1	0	5	53					T	155561701	A	T	155561701	3	4	156	1	0	0	0	0	1	0	0	0	15888	43	2	5	3256	5	TIAM2	6	155561701	Missense_Mutation	SNP	A	TCGA-G9-6347-01A-11D-A31L-08	113385670	155561701	15553366	14	7587											
C6orf70	55780	broad.mit.edu	37	chr6	170162587	170162587	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tggacttaggaatgtttttgCcacacttaacagatgtccaa	12	13	8	8	0	0	1	0	0	0	1	1	3	1	3	2	2	2	1	2	2	4	4			TCGA-G9-6347-01A-11D-A31L-08	TCGA-G9-6347-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	470a25cd-eea8-4ca6-b91c-86e36397135a	b63236ea-caa8-44c1-ba56-d36c6c394c23	g.chr6:170162587C>T	ENST00000366773.3	+	9	953	c.920C>T	c.(919-921)gCc>gTc	p.A307V	ERMARD_ENST00000392095.4_Missense_Mutation_p.A181V|ERMARD_ENST00000588451.1_Missense_Mutation_p.A181V|ERMARD_ENST00000366772.2_Missense_Mutation_p.A307V|ERMARD_ENST00000418781.3_Missense_Mutation_p.A307V	NM_001278532.1|NM_018341.1	NP_001265461.1|NP_060811.1	Q5T6L9	EMARD_HUMAN	ER membrane-associated RNA degradation	307					multicellular organismal development (GO:0007275)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)											AATGTTTTTGCCACACTTAAC	0.383																																						ENST00000588451.1																			0				breast(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(7)|ovary(1)	20						c.(541-543)gCc>gTc									151	143	146					6																	170162587		2203	4300	6503	SO:0001583	missense	0					integral to membrane		g.chr6:170162587C>T	AK002014	CCDS34576.1, CCDS64572.1, CCDS64573.1, CCDS64574.1	6q27	2013-08-28	2013-08-28	2013-08-28	ENSG00000130023	ENSG00000130023			21056	protein-coding gene	gene with protein product		615532	"chromosome 6 open reading frame 70"	C6orf70		23768067	Standard	NM_018341		Approved	FLJ11152, dJ266L20.3	uc003qxg.1	Q5T6L9	OTTHUMG00000016067	ENST00000366773.3:c.920C>T	6.37:g.170162587C>T	ENSP00000355735:p.Ala307Val					C6orf70_ENST00000418781.3_Missense_Mutation_p.A307V|C6orf70_ENST00000366772.2_Missense_Mutation_p.A307V|C6orf70_ENST00000392095.4_Missense_Mutation_p.A181V|C6orf70_ENST00000366773.3_Missense_Mutation_p.A307V	p.A181V			Q5T6L9	CF070_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;1.2e-22)|BRCA - Breast invasive adenocarcinoma(81;1.49e-07)|GBM - Glioblastoma multiforme(31;0.00191)	9	1055	+		Breast(66;5.08e-05)|Ovarian(120;0.208)	307					B4DFH0|F8WAF1|Q3ZCS8|Q5T6L8|Q9NUT5|Q9NVU2	Missense_Mutation	SNP	ENST00000366773.3	37	c.542C>T	CCDS34576.1	.	.	.	.	.	.	.	.	.	.	C	13.34	2.206720	0.39003	.	.	ENSG00000130023	ENST00000366773;ENST00000366772;ENST00000418781;ENST00000392095	T;T	0.50813	0.76;0.73	5.08	4.21	0.49690	.	0.289980	0.24717	N	0.036166	T	0.48909	0.1526	L	0.48362	1.52	0.28415	N	0.91801	D;D;B	0.89917	0.998;1.0;0.451	D;D;B	0.85130	0.994;0.997;0.137	T	0.36432	-0.9748	10	0.59425	D	0.04	.	11.8739	0.52536	0.0:0.9136:0.0:0.0864	.	307;307;307	Q5T6L9-3;Q5T6L9-2;Q5T6L9	.;.;CF070_HUMAN	V	307;307;307;181	ENSP00000355735:A307V;ENSP00000375945:A181V	ENSP00000355734:A307V	A	+	2	0	C6orf70	169904512	0.781000	0.28676	0.108000	0.21378	0.017000	0.09413	2.252000	0.43196	2.355000	0.79922	0.655000	0.94253	GCC		0.383	ERMARD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043238.2	NM_018341		4	134	0	0	0	1	0	4	134					T	170162587	C	T	170162587	3	4	156	1	0	0	0	0	1	0	0	0	2370	739	26	3	954	3	C6orf70	6	170162587	Missense_Mutation	SNP	C	TCGA-G9-6347-01A-11D-A31L-08	14600886	170162587	952480	15	7588											
TBP	6908	broad.mit.edu	37	chr6	170871043	170871043	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagcagcagcagcagcaacaGcaacagcagcagcagcagca	16	0	11	14	0	0	0	0	0	0	0	0	0	0	0	0	0	13	11	0	0	2	0			TCGA-G9-6347-01A-11D-A31L-08	TCGA-G9-6347-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	470a25cd-eea8-4ca6-b91c-86e36397135a	b63236ea-caa8-44c1-ba56-d36c6c394c23	g.chr6:170871043G>A	ENST00000392092.2	+	3	498	c.219G>A	c.(217-219)caG>caA	p.Q73Q	TBP_ENST00000230354.6_Silent_p.Q73Q|TBP_ENST00000540980.1_Silent_p.Q53Q	NM_003194.4	NP_003185.1	P20226	TBP_HUMAN	TATA box binding protein	73	Poly-Gln.				cell death (GO:0008219)|gene expression (GO:0010467)|positive regulation of transcription, DNA-templated (GO:0045893)|spermatogenesis (GO:0007283)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription from RNA polymerase III promoter (GO:0006383)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	cytoplasm (GO:0005737)|female pronucleus (GO:0001939)|male pronucleus (GO:0001940)|nuclear euchromatin (GO:0005719)|nucleoplasm (GO:0005654)|transcription factor TFIIA complex (GO:0005672)|transcription factor TFIID complex (GO:0005669)	repressing transcription factor binding (GO:0070491)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)	p.Q73Q(1)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1)	26		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591)		agcagcaacagcaacagcagc	0.562																																						ENST00000392092.2																			1	Substitution - coding silent(1)	p.Q73Q(1)	endometrium(1)	breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1)	26						c.(217-219)caG>caA		TATA box binding protein							17	21	20					6																	170871043		1987	3877	5864	SO:0001819	synonymous_variant	6908				cell death|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription from RNA polymerase III promoter|viral reproduction	transcription factor TFIIA complex|transcription factor TFIID complex	repressing transcription factor binding|transcription regulatory region DNA binding	g.chr6:170871043G>A	M55654	CCDS5315.1, CCDS55077.1	6q27	2014-04-02			ENSG00000112592	ENSG00000112592		"General transcription factors"	11588	protein-coding gene	gene with protein product		600075		GTF2D1, SCA17		2194289, 11448935	Standard	NM_003194		Approved	TFIID	uc003qxu.3	P20226	OTTHUMG00000016084	ENST00000392092.2:c.219G>A	6.37:g.170871043G>A						TBP_ENST00000540980.1_Silent_p.Q53Q|TBP_ENST00000230354.6_Silent_p.Q73Q	p.Q73Q	NM_003194.4	NP_003185.1	P20226	TBP_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591)	3	498	+		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)	73			Poly-Gln.		B4E3B3|F5H869|Q16845|Q6IBM6|Q9UC02	Silent	SNP	ENST00000392092.2	37	c.219G>A	CCDS5315.1																																																																																				0.562	TBP-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043271.2	NM_003194		5	50	0	0	0	1	0	5	50					A	170871043	G	A	170871043	2	1	156	1	0	0	0	0	0	0	0	1	15641	962	34	3		3	TBP	6	170871043	Silent	SNP	G	TCGA-G9-6347-01A-11D-A31L-08	708456	170871043	244024	16	7589											
SAMD9L	219285	broad.mit.edu	37	chr7	92760915	92760916	+	Frame_Shift_Ins	INS	-	-	T																															gtactgtcccctgaaggatcINStatttaaggatgaaacatac																										TCGA-G9-6347-01A-11D-A31L-08	TCGA-G9-6347-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	470a25cd-eea8-4ca6-b91c-86e36397135a	b63236ea-caa8-44c1-ba56-d36c6c394c23	g.chr7:92760915_92760916insT	ENST00000318238.4	-	5	5585_5586	c.4369_4370insA	c.(4369-4371)agafs	p.R1457fs	SAMD9L_ENST00000437805.1_Frame_Shift_Ins_p.R1457fs|SAMD9L_ENST00000411955.1_Frame_Shift_Ins_p.R1457fs	NM_152703.2	NP_689916.2	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like	1457					common myeloid progenitor cell proliferation (GO:0035726)|endosomal vesicle fusion (GO:0034058)|hematopoietic progenitor cell differentiation (GO:0002244)|regulation of protein catabolic process (GO:0042176)|spleen development (GO:0048536)|stem cell division (GO:0017145)	early endosome (GO:0005769)				central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			CCTGAAGGATCTATTTAAGGAT	0.436																																						ENST00000318238.4																			0				central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88						c.(4369-4371)atcfs		sterile alpha motif domain containing 9-like																																				SO:0001589	frameshift_variant	219285							g.chr7:92760915_92760916insT	AB095926	CCDS34681.1	7q21.2	2013-01-10		2005-04-26	ENSG00000177409	ENSG00000177409		"Sterile alpha motif (SAM) domain containing"	1349	protein-coding gene	gene with protein product		611170	"chromosome 7 open reading frame 6"	C7orf6			Standard	NM_152703		Approved	KIAA2005, FLJ39885	uc003umh.1	Q8IVG5	OTTHUMG00000155807	ENST00000318238.4:c.4370dupA	7.37:g.92760916_92760916dupT	ENSP00000326247:p.Arg1457fs					SAMD9L_ENST00000411955.1_Frame_Shift_Ins_p.I1457fs|SAMD9L_ENST00000437805.1_Frame_Shift_Ins_p.I1457fs	p.I1457fs	NM_152703.2	NP_689916.2	Q8IVG5	SAM9L_HUMAN	STAD - Stomach adenocarcinoma(171;0.000302)		5	5585_5586	-	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		1457					A0JP23|A0JP24|A0PJG8|A4D1G8|D6W5Q6|Q2TV71|Q2TV75|Q2UZV8|Q8IWI4|Q8N3L9|Q8N875	Frame_Shift_Ins	INS	ENST00000318238.4	37	c.4369_4370insA	CCDS34681.1																																																																																				0.436	SAMD9L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341730.1	NM_152703		9	173						9	173	---	---	---	---	T	92760916	-	T	92760915	7	5	156	1	0	1	1	0	0	0	0	0	13827	913	32	0	388	0	SAMD9L	7	92760915	Frame_Shift_Ins	INS	-	TCGA-G9-6347-01A-11D-A31L-08		92760915	66377748	17	7590											
FSCN3	29999	broad.mit.edu	37	chr7	127235472	127235472	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atggcaccgtgtgttatggcCgcccaaggaccagccaccat	9	7	11	14	2	0	0	0	0	0	0	0	1	0	1	6	3	1	2	6	3	2	1	rs146886586		TCGA-G9-6347-01A-11D-A31L-08	TCGA-G9-6347-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	470a25cd-eea8-4ca6-b91c-86e36397135a	b63236ea-caa8-44c1-ba56-d36c6c394c23	g.chr7:127235472C>T	ENST00000265825.5	+	2	475	c.256C>T	c.(256-258)Cgc>Tgc	p.R86C	GCC1_ENST00000497650.1_5'Flank|FSCN3_ENST00000420086.2_5'UTR|FSCN3_ENST00000478328.1_3'UTR	NM_020369.2	NP_065102.1	Q9NQT6	FSCN3_HUMAN	fascin actin-bundling protein 3, testicular	86						actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				endometrium(2)|large_intestine(3)|liver(2)|lung(17)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30						GTGTTATGGCCGCCCAAGGAC	0.562																																						ENST00000265825.5																			0				endometrium(2)|large_intestine(3)|liver(2)|lung(17)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30						c.(256-258)Cgc>Tgc		fascin homolog 3, actin-bundling protein, testicular (Strongylocentrotus purpuratus)		C	CYS/ARG	2,4404	4.2+/-10.8	0,2,2201	132	108	117		256	2.6	0.3	7	dbSNP_134	117	0,8600		0,0,4300	no	missense	FSCN3	NM_020369.2	180	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	benign	86/499	127235472	2,13004	2203	4300	6503	SO:0001583	missense	29999					actin cytoskeleton|cytoplasm	actin filament binding|protein binding, bridging	g.chr7:127235472C>T		CCDS34746.1	7q31.3	2014-02-03	2014-02-03		ENSG00000106328	ENSG00000106328		"Fascins"	3961	protein-coding gene	gene with protein product		615800	"fascin (Strongylocentrotus purpuratus) homolog 3 (actin-bundling protein, testicular)", "fascin homolog 3, actin-bundling protein, testicular (Strongylocentrotus purpuratus)"			11925108	Standard	NM_020369		Approved		uc003vmd.2	Q9NQT6	OTTHUMG00000022935	ENST00000265825.5:c.256C>T	7.37:g.127235472C>T	ENSP00000265825:p.Arg86Cys					FSCN3_ENST00000478328.1_3'UTR|FSCN3_ENST00000420086.2_5'UTR	p.R86C	NM_020369.2	NP_065102.1	Q9NQT6	FSCN3_HUMAN			2	475	+			86					A4D0Z2|A6NLL7|B2RA62|B4DU68	Missense_Mutation	SNP	ENST00000265825.5	37	c.256C>T	CCDS34746.1	.	.	.	.	.	.	.	.	.	.	C	8.469	0.857118	0.17106	4.54E-4	0.0	ENSG00000106328	ENST00000265825	T	0.23754	1.89	5.59	2.62	0.31277	Fascin domain (1);Actin cross-linking (1);	0.505616	0.18064	N	0.152849	T	0.18002	0.0432	L	0.38838	1.175	0.19775	N	0.999955	B	0.17465	0.022	B	0.10450	0.005	T	0.15867	-1.0422	10	0.41790	T	0.15	-5.7056	6.6654	0.23037	0.3283:0.5845:0.0:0.0872	.	86	Q9NQT6	FSCN3_HUMAN	C	86	ENSP00000265825:R86C	ENSP00000265825:R86C	R	+	1	0	FSCN3	127022708	0.077000	0.21312	0.268000	0.24571	0.345000	0.29048	0.179000	0.16840	0.750000	0.32877	0.655000	0.94253	CGC		0.562	FSCN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059256.2	NM_020369		8	72	0	0	0	1	0	8	72					T	127235472	C	T	127235472	3	4	156	1	0	0	0	0	1	0	0	0	6069	652	23	2	262	2	FSCN3	7	127235472	Missense_Mutation	SNP	C	TCGA-G9-6347-01A-11D-A31L-08	34474557	127235472	31903191	18	7591											
CALD1	800	broad.mit.edu	37	chr7	134618474	134618476	+	In_Frame_Del	DEL	GGA	GGA	-																															gaagagagggaaaggatgagGgaggaagagaaaagggcagc																								rs573221724	byFrequency	TCGA-G9-6347-01A-11D-A31L-08	TCGA-G9-6347-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	470a25cd-eea8-4ca6-b91c-86e36397135a	b63236ea-caa8-44c1-ba56-d36c6c394c23	g.chr7:134618474_134618476delGGA	ENST00000361675.2	+	5	1183_1185	c.954_956delGGA	c.(952-957)agggag>agg	p.E321del	CALD1_ENST00000424922.1_Intron|CALD1_ENST00000361388.2_Intron|CALD1_ENST00000393118.2_Intron|CALD1_ENST00000417172.1_Intron|CALD1_ENST00000543443.1_Intron|CALD1_ENST00000361901.2_Intron|CALD1_ENST00000422748.1_Intron|CALD1_ENST00000495522.1_Intron			Q05682	CALD1_HUMAN	caldesmon 1	321	3 X 14 AA tandem repeats of E-E-E-K-R-A- A-E-E-R-Q-R-I-K.				cellular component movement (GO:0006928)|muscle contraction (GO:0006936)	actin cap (GO:0030478)|actin cytoskeleton (GO:0015629)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|calmodulin binding (GO:0005516)|tropomyosin binding (GO:0005523)			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(15)|lung(10)	43						aaaggatgagggaggaagagaaa	0.483														8	0.00159744	0	0.0029	5008	,	,		20620	0		0.006	False		,,,				2504	0					ENST00000361675.2																			0				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(15)|lung(10)	43						c.(952-957)agg>ag		caldesmon 1			,,,,	6,4242		0,6,2118					,,,,	2.6	0			118	69,8165		2,65,4050	no	intron,intron,intron,coding,intron	CALD1	NM_033157.3,NM_033140.3,NM_033139.3,NM_033138.3,NM_004342.6	,,,,	2,71,6168	A1A1,A1R,RR		0.838,0.1412,0.6009	,,,,	,,,,		75,12407				SO:0001651	inframe_deletion	800				cellular component movement|muscle contraction	cytosol|focal adhesion|myofibril	actin binding|calmodulin binding|myosin binding|tropomyosin binding	g.chr7:134618474_134618476delGGA	M64110	CCDS5834.1, CCDS5835.1, CCDS5836.1, CCDS47716.1, CCDS47717.1, CCDS5836.2	7q33	2007-04-23			ENSG00000122786	ENSG00000122786			1441	protein-coding gene	gene with protein product		114213				1885618	Standard	NM_004342		Approved	CDM, H-CAD, L-CAD	uc003vrz.3	Q05682	OTTHUMG00000155407	ENST00000361675.2:c.954_956delGGA	7.37:g.134618477_134618479delGGA	ENSP00000354826:p.Glu321del					CALD1_ENST00000393118.2_Intron|CALD1_ENST00000361388.2_Intron|CALD1_ENST00000417172.1_Intron|CALD1_ENST00000495522.1_Intron|CALD1_ENST00000422748.1_Intron|CALD1_ENST00000424922.1_Intron|CALD1_ENST00000361901.2_Intron|CALD1_ENST00000543443.1_Intron	p.RE318del			Q05682	CALD1_HUMAN			5	1183_1185	+			318					A8K0X1|Q13978|Q13979|Q14741|Q14742|Q9UD91	In_Frame_Del	DEL	ENST00000361675.2	37	c.954_956delGGA	CCDS5835.1																																																																																				0.483	CALD1-005	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339939.1	NM_033138		3	5						3	5	---	---	---	---	-	134618476	GGA	-	134618474	7	5	156	1	0	1	0	1	0	0	0	0	2581	1223	43	0	1021	0	CALD1	7	134618474	In_Frame_Del	DEL	GGA	TCGA-G9-6347-01A-11D-A31L-08	7383002	134618474	24520189	19	7592											
EGR3	1960	broad.mit.edu	37	chr8	22548994	22548994	+	Splice_Site	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agaccgatgtccattacattCtctgcggagagcgggggaga	10	8	14	9	3	1	3	0	0	1	3	3	6	2	3	2	3	3	0	2	3	1	2			TCGA-G9-6347-01A-11D-A31L-08	TCGA-G9-6347-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	470a25cd-eea8-4ca6-b91c-86e36397135a	b63236ea-caa8-44c1-ba56-d36c6c394c23	g.chr8:22548994C>G	ENST00000317216.2	-	2	513	c.156G>C	c.(154-156)gaG>gaC	p.E52D	EGR3_ENST00000524088.1_5'UTR|EGR3_ENST00000522910.1_Splice_Site_p.E14D|RP11-459E5.1_ENST00000523627.1_RNA|EGR3_ENST00000519492.1_Splice_Site_p.R70T	NM_001199881.1|NM_004430.2	NP_001186810.1|NP_004421.2	Q06889	EGR3_HUMAN	early growth response 3	52					cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to cAMP (GO:0071320)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to gonadotropin stimulus (GO:0071371)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|circadian rhythm (GO:0007623)|endothelial cell chemotaxis (GO:0035767)|muscle organ development (GO:0007517)|negative regulation of apoptotic process (GO:0043066)|neuromuscular synaptic transmission (GO:0007274)|peripheral nervous system development (GO:0007422)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of T cell differentiation in thymus (GO:0033089)|regulation of gamma-delta T cell differentiation (GO:0045586)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	10		Prostate(55;0.0421)|Breast(100;0.102)		Colorectal(74;0.0145)|BRCA - Breast invasive adenocarcinoma(99;0.053)|COAD - Colon adenocarcinoma(73;0.0608)		CCATTACATTCTCTGCGGAGA	0.667																																						ENST00000317216.2																			0				breast(1)|endometrium(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	10						c.e2-1		early growth response 3							43	50	47					8																	22548994		2202	4297	6499	SO:0001630	splice_region_variant	1960				circadian rhythm|muscle organ development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:22548994C>G	X63741	CCDS6033.1, CCDS56528.1	8p23-p21	2013-01-08			ENSG00000179388	ENSG00000179388		"Zinc fingers, C2H2-type"	3240	protein-coding gene	gene with protein product	"zinc finger protein pilot"	602419				1906159, 11909874	Standard	NM_004430		Approved	PILOT	uc003xcm.1	Q06889	OTTHUMG00000097825	ENST00000317216.2:c.155-1G>C	8.37:g.22548994C>G						EGR3_ENST00000519492.1_Splice_Site_p.R70_splice|EGR3_ENST00000524088.1_5'UTR|RP11-459E5.1_ENST00000523627.1_RNA|EGR3_ENST00000522910.1_Splice_Site_p.E14_splice	p.E52_splice	NM_001199881.1|NM_004430.2	NP_001186810.1|NP_004421.2	Q06889	EGR3_HUMAN		Colorectal(74;0.0145)|BRCA - Breast invasive adenocarcinoma(99;0.053)|COAD - Colon adenocarcinoma(73;0.0608)	2	513	-		Prostate(55;0.0421)|Breast(100;0.102)	52					A8K8U9|B4DHJ5|E7EW38|Q2M3W2	Splice_Site	SNP	ENST00000317216.2	37	c.154_splice	CCDS6033.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	1.135|1.135	-0.651377|-0.651377	0.03506|0.03506	.|.	.|.	ENSG00000179388|ENSG00000179388	ENST00000317216;ENST00000522910|ENST00000519492	T;T|.	0.05382|.	3.77;3.45|.	5.39|5.39	5.39|5.39	0.77823|0.77823	.|.	0.063349|.	0.64402|.	D|.	0.000007|.	T|T	0.11067|0.11067	0.0270|0.0270	N|N	0.00399|0.00399	-1.545|-1.545	0.25514|0.25514	N|N	0.987431|0.987431	B;B|.	0.02656|.	0.0;0.0|.	B;B|.	0.04013|.	0.001;0.0|.	T|T	0.11916|0.11916	-1.0568|-1.0568	10|6	0.02654|0.87932	T|D	1|0	.|.	11.7089|11.7089	0.51614|0.51614	0.1765:0.8235:0.0:0.0|0.1765:0.8235:0.0:0.0	.|.	14;52|.	E7EW38;Q06889|.	.;EGR3_HUMAN|.	D|T	52;14|70	ENSP00000318057:E52D;ENSP00000430310:E14D|.	ENSP00000318057:E52D|ENSP00000429370:R70T	E|R	-|-	3|2	2|0	EGR3|EGR3	22604939|22604939	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.992000|0.992000	0.81027|0.81027	0.845000|0.845000	0.27668|0.27668	2.517000|2.517000	0.84864|0.84864	0.462000|0.462000	0.41574|0.41574	GAG|AGA		0.667	EGR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000215098.1	NM_004430	Missense_Mutation	5	103	0	0	0	1	0	5	103					G	22548994	C	G	22548994	5	3	156	1	0	0	0	0	0	0	1	0	4973	927	32	5	1011	5	EGR3	8	22548994	Splice_Site	SNP	C	TCGA-G9-6347-01A-11D-A31L-08		22548994	123815028	20	7593											
BAT2L1	84726	broad.mit.edu	37	chr9	134366823	134366823	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcccagcagctgaccatgccActgcctcggtacggctccgg	6	6	12	17	3	0	1	0	1	0	0	2	1	1	1	5	3	5	4	5	3	1	1			TCGA-G9-6347-01A-11D-A31L-08	TCGA-G9-6347-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	470a25cd-eea8-4ca6-b91c-86e36397135a	b63236ea-caa8-44c1-ba56-d36c6c394c23	g.chr9:134366823A>T	ENST00000357304.4	+	28	6292	c.6237A>T	c.(6235-6237)ccA>ccT	p.P2079P	PRRC2B_ENST00000372249.1_Silent_p.P176P|SNORD62B_ENST00000426867.1_RNA|PRRC2B_ENST00000458550.1_Silent_p.P1385P|PRRC2B_ENST00000405995.1_Silent_p.P1385P|PRRC2B_ENST00000465931.1_3'UTR	NM_013318.3	NP_037450.2	Q5JSZ5	PRC2B_HUMAN	proline-rich coiled-coil 2B	2079							poly(A) RNA binding (GO:0044822)			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(20)|ovary(2)	44						TGACCATGCCACTGCCTCGGT	0.612																																						ENST00000357304.4																			0				cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(20)|ovary(2)	44						c.(6235-6237)ccA>ccT		proline-rich coiled-coil 2B							46	54	52					9																	134366823		2099	4217	6316	SO:0001819	synonymous_variant	84726						protein binding	g.chr9:134366823A>T	AB011087	CCDS48044.1	9q34.13	2010-12-09	2010-12-09	2010-12-09	ENSG00000130723	ENSG00000130723			28121	protein-coding gene	gene with protein product			"KIAA0515", "HLA-B associated transcript 2-like", "HLA-B associated transcript 2-like 1"	KIAA0515, BAT2L, BAT2L1		9628581	Standard	NM_013318		Approved	MGC10526, LQFBS-1	uc004can.4	Q5JSZ5	OTTHUMG00000020827	ENST00000357304.4:c.6237A>T	9.37:g.134366823A>T						PRRC2B_ENST00000458550.1_Silent_p.P1385P|PRRC2B_ENST00000405995.1_Silent_p.P1385P|PRRC2B_ENST00000372249.1_Silent_p.P176P|PRRC2B_ENST00000465931.1_3'UTR	p.P2079P	NM_013318.3	NP_037450.2	Q5JSZ5	PRC2B_HUMAN			28	6292	+			2079					O60270|Q5JSZ7|Q66VZ2|Q68CR0|Q96EI9|Q9H683	Silent	SNP	ENST00000357304.4	37	c.6237A>T	CCDS48044.1	.	.	.	.	.	.	.	.	.	.	A	10.33	1.319804	0.23994	.	.	ENSG00000130723	ENST00000320547	.	.	.	5.45	-5.55	0.02536	.	.	.	.	.	T	0.46795	0.1411	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.44590	-0.9318	4	.	.	.	-17.6988	5.9408	0.19192	0.116:0.1436:0.5427:0.1976	.	.	.	.	S	86	.	.	T	+	1	0	PRRC2B	133356644	1.000000	0.71417	0.879000	0.34478	0.922000	0.55478	0.216000	0.17585	-1.419000	0.02012	0.454000	0.30748	ACT		0.612	PRRC2B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				12	105	0	0	0	1	0	12	105					T	134366823	A	T	134366823	2	4	156	1	0	0	0	0	0	0	0	1	1320	146	6	5		5	BAT2L1	9	134366823	Silent	SNP	A	TCGA-G9-6347-01A-11D-A31L-08		134366823	6846608	21	7594											
TTC18	118491	broad.mit.edu	37	chr10	75104854	75104854	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atggaacttgcagaccgaccAtgtagttctgcccaggacct	10	9	10	12	1	1	1	0	0	1	1	1	4	1	3	4	2	3	3	4	2	2	3			TCGA-G9-6347-01A-11D-A31L-08	TCGA-G9-6347-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	470a25cd-eea8-4ca6-b91c-86e36397135a	b63236ea-caa8-44c1-ba56-d36c6c394c23	g.chr10:75104854A>G	ENST00000310715.3	-	6	698	c.578T>C	c.(577-579)aTg>aCg	p.M193T	TTC18_ENST00000401621.2_Missense_Mutation_p.M193T|TTC18_ENST00000493787.1_5'UTR|Y_RNA_ENST00000384742.1_RNA|TTC18_ENST00000394865.1_Missense_Mutation_p.M193T|TTC18_ENST00000340329.3_Missense_Mutation_p.M193T|TTC18_ENST00000355577.3_5'UTR	NM_145170.3	NP_660153.3	Q5T0N1	TTC18_HUMAN		193						extracellular vesicular exosome (GO:0070062)				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	Prostate(51;0.0119)					CAGACCGACCATGTAGTTCTG	0.488																																						ENST00000401621.2																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						c.(577-579)aTg>aCg		tetratricopeptide repeat domain 18							216	205	209					10																	75104854		2203	4300	6503	SO:0001583	missense	118491						binding	g.chr10:75104854A>G																												ENST00000310715.3:c.578T>C	10.37:g.75104854A>G	ENSP00000310829:p.Met193Thr					TTC18_ENST00000394865.1_Missense_Mutation_p.M193T|TTC18_ENST00000340329.3_Missense_Mutation_p.M193T|TTC18_ENST00000493787.1_5'UTR|TTC18_ENST00000355577.3_5'UTR|TTC18_ENST00000310715.3_Missense_Mutation_p.M193T	p.M193T			Q5T0N1	TTC18_HUMAN			6	698	-	Prostate(51;0.0119)		193					C9JIZ9|Q5T0M4|Q5T0M9|Q5T0N0|Q69YH9|Q8IYZ8|Q8N7D5|Q8NI30|Q8NI31	Missense_Mutation	SNP	ENST00000310715.3	37	c.578T>C	CCDS7324.3	.	.	.	.	.	.	.	.	.	.	A	10.48	1.362291	0.24684	.	.	ENSG00000156042	ENST00000310715;ENST00000401621;ENST00000355577;ENST00000340329;ENST00000372928;ENST00000394865	T;T;T;T	0.25579	1.79;1.79;1.79;1.79	5.61	5.61	0.85477	.	0.363185	0.35067	N	0.003480	T	0.23649	0.0572	L	0.41079	1.255	0.40112	D	0.976507	P;B	0.44195	0.828;0.02	B;B	0.41946	0.371;0.004	T	0.03443	-1.1036	10	0.24483	T	0.36	-25.1819	13.8047	0.63223	1.0:0.0:0.0:0.0	.	193;193	Q5T0N1-2;Q5T0N1	.;TTC18_HUMAN	T	193	ENSP00000310829:M193T;ENSP00000384479:M193T;ENSP00000343650:M193T;ENSP00000378334:M193T	ENSP00000310829:M193T	M	-	2	0	TTC18	74774860	1.000000	0.71417	1.000000	0.80357	0.849000	0.48306	5.218000	0.65257	2.133000	0.65898	0.473000	0.43528	ATG		0.488	TTC18-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding				22	247	0	0	0	1	0	22	247					G	75104854	A	G	75104854	3	3	156	1	0	0	0	0	1	0	0	0	16682	217	8	4	2879	4	TTC18	10	75104854	Missense_Mutation	SNP	A	TCGA-G9-6347-01A-11D-A31L-08		75104854	60429893	22	7595											
OR8K1	390157	broad.mit.edu	37	chr11	56113902	56113902	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caatggcctatgatcgctacGtagccatctgtaaacctctt	10	12	7	12	2	2	1	0	1	2	0	3	1	2	1	3	1	3	3	3	1	6	5			TCGA-G9-6347-01A-11D-A31L-08	TCGA-G9-6347-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	470a25cd-eea8-4ca6-b91c-86e36397135a	b63236ea-caa8-44c1-ba56-d36c6c394c23	g.chr11:56113902G>A	ENST00000279783.2	+	1	482	c.388G>A	c.(388-390)Gta>Ata	p.V130I		NM_001002907.1	NP_001002907.1	Q8NGG5	OR8K1_HUMAN	olfactory receptor, family 8, subfamily K, member 1	130						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V130I(1)		large_intestine(8)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33	Esophageal squamous(21;0.00448)					TGATCGCTACGTAGCCATCTG	0.413										HNSCC(65;0.19)																												ENST00000279783.2																			1	Substitution - Missense(1)	p.V130I(1)	upper_aerodigestive_tract(1)	large_intestine(8)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						c.(388-390)Gta>Ata		olfactory receptor, family 8, subfamily K, member 1							214	211	212					11																	56113902		2201	4296	6497	SO:0001583	missense	390157				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56113902G>A	AB065835	CCDS31528.1	11q11	2012-08-09			ENSG00000150261	ENSG00000150261		"GPCR / Class A : Olfactory receptors"	14831	protein-coding gene	gene with protein product							Standard	NM_001002907		Approved		uc010rjg.2	Q8NGG5	OTTHUMG00000166858	ENST00000279783.2:c.388G>A	11.37:g.56113902G>A	ENSP00000279783:p.Val130Ile	HNSCC(65;0.19)					p.V130I	NM_001002907.1	NP_001002907.1	Q8NGG5	OR8K1_HUMAN			1	482	+	Esophageal squamous(21;0.00448)		130					B9EJB1|Q6IFC3|Q96RC1	Missense_Mutation	SNP	ENST00000279783.2	37	c.388G>A	CCDS31528.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.211399	0.79240	.	.	ENSG00000150261	ENST00000279783	T	0.00397	7.57	5.0	5.0	0.66597	GPCR, rhodopsin-like superfamily (1);	0.000000	0.45606	D	0.000342	T	0.00468	0.0015	M	0.62209	1.925	0.35452	D	0.79574	D	0.61697	0.99	P	0.49752	0.621	T	0.74074	-0.3782	10	0.66056	D	0.02	-14.0461	9.3781	0.38295	0.0787:0.1443:0.777:0.0	.	130	Q8NGG5	OR8K1_HUMAN	I	130	ENSP00000279783:V130I	ENSP00000279783:V130I	V	+	1	0	OR8K1	55870478	0.993000	0.37304	0.911000	0.35937	0.974000	0.67602	2.417000	0.44653	2.297000	0.77311	0.549000	0.68633	GTA		0.413	OR8K1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391605.1	NM_001002907		10	196	0	0	0	1	0	10	196					A	56113902	G	A	56113902	3	1	156	1	0	0	0	0	1	0	0	0	11243	1145	40	1	390	1	OR8K1	11	56113902	Missense_Mutation	SNP	G	TCGA-G9-6347-01A-11D-A31L-08		56113902	78892614	23	7596											
MDM1	56890	broad.mit.edu	37	chr12	68710032	68710032	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccttttctcggagttctttaAcctattcaggagagttcaga	9	15	8	9	1	4	2	2	0	2	2	5	4	4	3	2	2	1	2	2	2	2	8			TCGA-G9-6347-01A-11D-A31L-08	TCGA-G9-6347-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	470a25cd-eea8-4ca6-b91c-86e36397135a	b63236ea-caa8-44c1-ba56-d36c6c394c23	g.chr12:68710032A>G	ENST00000303145.7	-	8	1093	c.1007T>C	c.(1006-1008)gTt>gCt	p.V336A	MDM1_ENST00000411698.2_Splice_Site_p.V301A|MDM1_ENST00000540418.1_Splice_Site_p.V56A	NM_017440.4	NP_059136.2	Q8TC05	MDM1_HUMAN	Mdm1 nuclear protein homolog (mouse)	336					retina development in camera-type eye (GO:0060041)	nucleus (GO:0005634)				breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(7)	33			Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018)	GBM - Glioblastoma multiforme(7;0.000174)		GAGTTCTTTAACCTATTCAGG	0.403																																						ENST00000303145.7																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(7)	33						c.e8-1		Mdm1 nuclear protein homolog (mouse)							64	63	63					12																	68710032		2203	4299	6502	SO:0001630	splice_region_variant	56890					nucleus		g.chr12:68710032A>G	AF007130	CCDS8983.1, CCDS44938.1, CCDS55841.1, CCDS55842.1	12q15	2008-04-14	2008-04-14			ENSG00000111554			29917	protein-coding gene	gene with protein product		613813	"Mdm4, transformed 3T3 cell double minute 1, p53 binding protein (mouse)"			8619474, 9110174	Standard	NM_017440		Approved		uc001stz.2	Q8TC05		ENST00000303145.7:c.1006-1T>C	12.37:g.68710032A>G						MDM1_ENST00000540418.1_Splice_Site_p.V56_splice|MDM1_ENST00000411698.2_Splice_Site_p.V301_splice	p.V336_splice	NM_017440.4	NP_059136.2	Q8TC05	MDM1_HUMAN	Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018)	GBM - Glioblastoma multiforme(7;0.000174)	8	1093	-			336					B4DM65|E7EPQ3|O43406|Q8WTV9|Q9NR04	Splice_Site	SNP	ENST00000303145.7	37	c.1005_splice	CCDS8983.1	.	.	.	.	.	.	.	.	.	.	A	18.90	3.721259	0.68959	.	.	ENSG00000111554	ENST00000540418;ENST00000303145;ENST00000411698	T;T;T	0.48836	0.8;0.8;0.8	5.77	4.61	0.57282	.	0.061993	0.64402	D	0.000005	T	0.68026	0.2956	M	0.77103	2.36	0.80722	D	1	D;D	0.89917	0.998;1.0	D;D	0.85130	0.99;0.997	T	0.69800	-0.5047	9	.	.	.	-17.5706	13.3137	0.60394	0.8679:0.1321:0.0:0.0	.	301;336	E7EPQ3;Q8TC05	.;MDM1_HUMAN	A	56;336;301	ENSP00000443815:V56A;ENSP00000302537:V336A;ENSP00000391006:V301A	.	V	-	2	0	MDM1	66996299	1.000000	0.71417	1.000000	0.80357	0.816000	0.46133	7.122000	0.77169	1.104000	0.41587	0.528000	0.53228	GTT		0.403	MDM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402402.1	NM_020128	Missense_Mutation	3	36	0	0	0	1	0	3	36					G	68710032	A	G	68710032	5	3	156	1	0	0	0	0	0	0	1	0	9412	57	2	4	1165	4	MDM1	12	68710032	Splice_Site	SNP	A	TCGA-G9-6347-01A-11D-A31L-08		68710032	65141863	24	7597											
PRKD1	5587	broad.mit.edu	37	chr14	30100144	30100144	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	acatttgccgtagtgatttcGaaacaatgaggattggcccc	11	11	10	9	2	0	2	0	2	0	0	1	4	0	3	3	2	2	1	3	2	3	4			TCGA-G9-6347-01A-11D-A31L-08	TCGA-G9-6347-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	470a25cd-eea8-4ca6-b91c-86e36397135a	b63236ea-caa8-44c1-ba56-d36c6c394c23	g.chr14:30100144G>A	ENST00000331968.5	-	10	1705	c.1476C>T	c.(1474-1476)ttC>ttT	p.F492F	PRKD1_ENST00000415220.2_Silent_p.F500F	NM_002742.2	NP_002733.2	Q15139	KPCD1_HUMAN	protein kinase D1	492	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|cellular response to oxidative stress (GO:0034599)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|Golgi organization (GO:0007030)|Golgi vesicle transport (GO:0048193)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|intracellular signal transduction (GO:0035556)|negative regulation of cell death (GO:0060548)|negative regulation of endocytosis (GO:0045806)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell chemotaxis by VEGF-activated vascular endothelial growth factor receptor signaling pathway (GO:0038033)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of histone deacetylase activity (GO:1901727)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of neuron projection development (GO:0010976)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein autophosphorylation (GO:0046777)|regulation of integrin-mediated signaling pathway (GO:2001044)|regulation of keratinocyte proliferation (GO:0010837)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cell cortex (GO:0005938)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|lung(32)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	78	Hepatocellular(127;0.0604)		LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252)	GBM - Glioblastoma multiforme(265;0.00888)		TAGTGATTTCGAAACAATGAG	0.398																																						ENST00000331968.5																			0				NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|lung(32)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	78						c.(1474-1476)ttC>ttT		protein kinase D1							130	121	124					14																	30100144		2203	4300	6503	SO:0001819	synonymous_variant	5587				cell proliferation|intracellular signal transduction|sphingolipid metabolic process	cytosol|integral to plasma membrane	ATP binding|metal ion binding|protein binding|protein kinase C activity	g.chr14:30100144G>A		CCDS9637.1	14q11	2013-01-10	2004-10-28	2004-10-30	ENSG00000184304	ENSG00000184304	2.7.11.1	"Pleckstrin homology (PH) domain containing"	9407	protein-coding gene	gene with protein product		605435	"protein kinase C, mu"	PRKCM		8119958, 10965134	Standard	NM_002742		Approved	PKCM, PKD, PKC-mu	uc001wqh.3	Q15139	OTTHUMG00000140203	ENST00000331968.5:c.1476C>T	14.37:g.30100144G>A						PRKD1_ENST00000415220.2_Silent_p.F500F	p.F492F	NM_002742.2	NP_002733.2	Q15139	KPCD1_HUMAN	LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252)	GBM - Glioblastoma multiforme(265;0.00888)	10	1705	-	Hepatocellular(127;0.0604)		492			PH.		A6NL64|B2RAF6	Silent	SNP	ENST00000331968.5	37	c.1476C>T	CCDS9637.1																																																																																				0.398	PRKD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000276611.2	NM_002742		6	88	0	0	0	1	0	6	88					A	30100144	G	A	30100144	2	1	156	1	0	0	0	0	0	0	0	1	12518	1049	37	2		2	PRKD1	14	30100144	Silent	SNP	G	TCGA-G9-6347-01A-11D-A31L-08		30100144	77249396	25	7598											
PKD1	5310	broad.mit.edu	37	chr16	2142146	2142146	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgctgaagcctcctgcggcCgagcacgtgtggaccctggg	5	7	16	13	3	0	1	0	1	0	0	1	3	1	2	4	3	4	2	4	3	1	0			TCGA-G9-6347-01A-11D-A31L-08	TCGA-G9-6347-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	470a25cd-eea8-4ca6-b91c-86e36397135a	b63236ea-caa8-44c1-ba56-d36c6c394c23	g.chr16:2142146C>T	ENST00000262304.4	-	40	11521	c.11313G>A	c.(11311-11313)tcG>tcA	p.S3771S	PKD1_ENST00000423118.1_Silent_p.S3770S|MIR1225_ENST00000408729.1_RNA|RP11-304L19.3_ENST00000565937.1_RNA|RP11-304L19.1_ENST00000570072.1_RNA	NM_001009944.2	NP_001009944	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	3771					anatomical structure morphogenesis (GO:0009653)|branching morphogenesis of an epithelial tube (GO:0048754)|calcium ion transmembrane transport (GO:0070588)|calcium-independent cell-matrix adhesion (GO:0007161)|cartilage condensation (GO:0001502)|cartilage development (GO:0051216)|cation transmembrane transport (GO:0098655)|cell cycle arrest (GO:0007050)|cell-matrix adhesion (GO:0007160)|cytoplasmic sequestering of transcription factor (GO:0042994)|detection of mechanical stimulus (GO:0050982)|digestive tract development (GO:0048565)|embryonic placenta development (GO:0001892)|genitalia development (GO:0048806)|heart development (GO:0007507)|homophilic cell adhesion (GO:0007156)|in utero embryonic development (GO:0001701)|JAK-STAT cascade (GO:0007259)|kidney development (GO:0001822)|liver development (GO:0001889)|lung epithelium development (GO:0060428)|mesonephric duct development (GO:0072177)|mesonephric tubule development (GO:0072164)|metanephric ascending thin limb development (GO:0072218)|metanephric collecting duct development (GO:0072205)|metanephric distal tubule morphogenesis (GO:0072287)|metanephric proximal tubule development (GO:0072237)|neural tube development (GO:0021915)|neuropeptide signaling pathway (GO:0007218)|nitrogen compound metabolic process (GO:0006807)|peptidyl-serine phosphorylation (GO:0018105)|placenta blood vessel development (GO:0060674)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of protein binding (GO:0032092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein export from nucleus (GO:0006611)|regulation of mitotic spindle organization (GO:0060236)|regulation of proteasomal protein catabolic process (GO:0061136)|response to fluid shear stress (GO:0034405)|skin development (GO:0043588)|spinal cord development (GO:0021510)	basolateral plasma membrane (GO:0016323)|cilium (GO:0005929)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|motile primary cilium (GO:0031512)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|polycystin complex (GO:0002133)	calcium channel activity (GO:0005262)|carbohydrate binding (GO:0030246)|cation channel activity (GO:0005261)|ion channel binding (GO:0044325)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						CTCCTGCGGCCGAGCACGTGT	0.647																																						ENST00000262304.4																			0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						c.(11311-11313)tcG>tcA		polycystic kidney disease 1 (autosomal dominant)							30	28	28					16																	2142146		2197	4298	6495	SO:0001819	synonymous_variant	5310				calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding	g.chr16:2142146C>T	L33243	CCDS32369.1, CCDS45385.1	16p13.3	2014-01-28			ENSG00000008710	ENSG00000008710		"Voltage-gated ion channels / Transient receptor potential cation channels"	9008	protein-coding gene	gene with protein product	"polycystin 1", "transient receptor potential cation channel, subfamily P, member 1"	601313					Standard	NM_001009944		Approved	PBP, Pc-1, TRPP1	uc002cos.1	P98161	OTTHUMG00000155795	ENST00000262304.4:c.11313G>A	16.37:g.2142146C>T						RP11-304L19.1_ENST00000570072.1_RNA|PKD1_ENST00000423118.1_Silent_p.S3770S	p.S3771S	NM_001009944.2	NP_001009944.2	P98161	PKD1_HUMAN			40	11521	-			3771					Q15140|Q15141	Silent	SNP	ENST00000262304.4	37	c.11313G>A	CCDS32369.1																																																																																				0.647	PKD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341688.1			7	32	0	0	0	1	0	7	32					T	2142146	C	T	2142146	2	4	156	1	0	0	0	0	0	0	0	1	11963	639	23	2		2	PKD1	16	2142146	Silent	SNP	C	TCGA-G9-6347-01A-11D-A31L-08		2142146	88212607	26	7599											
RNF135	84282	broad.mit.edu	37	chr17	29325769	29325769	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cagtgactgtgtctcaccgcCcacaaccctatcgctggagc	8	8	9	16	2	1	1	1	1	1	0	3	2	1	2	3	1	2	1	3	1	2	1			TCGA-G9-6347-01A-11D-A31L-08	TCGA-G9-6347-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	470a25cd-eea8-4ca6-b91c-86e36397135a	b63236ea-caa8-44c1-ba56-d36c6c394c23	g.chr17:29325769C>T	ENST00000328381.5	+	5	1732	c.859C>T	c.(859-861)Cca>Tca	p.P287S	RNF135_ENST00000443677.2_3'UTR|RNF135_ENST00000535306.2_3'UTR|RNF135_ENST00000324689.4_3'UTR	NM_032322.3	NP_115698.3	Q8IUD6	RN135_HUMAN	ring finger protein 135	287	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				innate immune response (GO:0045087)|negative regulation of type I interferon production (GO:0032480)|positive regulation of interferon-beta production (GO:0032728)|protein ubiquitination (GO:0016567)|regulation of innate immune response (GO:0045088)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ligase activity (GO:0016874)|ribonucleoprotein complex binding (GO:0043021)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.?(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(1)|skin(2)|urinary_tract(1)	10		all_cancers(10;8.65e-08)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Myeloproliferative disorder(56;0.0255)				GTCTCACCGCCCACAACCCTA	0.522																																						ENST00000328381.5																			1	Unknown(1)	p.?(1)	central_nervous_system(1)	breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(1)|skin(2)|urinary_tract(1)	10						c.(859-861)Cca>Tca		ring finger protein 135							86	82	83					17																	29325769		2203	4300	6503	SO:0001583	missense	84282				innate immune response|negative regulation of type I interferon production|positive regulation of interferon-beta production|regulation of innate immune response	cytosol	protein binding|ribonucleoprotein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr17:29325769C>T	AJ496729	CCDS11262.1, CCDS11263.1, CCDS54104.1	17q11.2	2013-01-09			ENSG00000181481	ENSG00000181481		"RING-type (C3HC4) zinc fingers"	21158	protein-coding gene	gene with protein product	"riplet"	611358				11468690, 19017631	Standard	NM_001184992		Approved	MGC13061	uc002hfz.3	Q8IUD6	OTTHUMG00000132867	ENST00000328381.5:c.859C>T	17.37:g.29325769C>T	ENSP00000328340:p.Pro287Ser					RNF135_ENST00000443677.2_3'UTR|RNF135_ENST00000535306.2_3'UTR|RNF135_ENST00000324689.4_3'UTR	p.P287S	NM_032322.3	NP_115698.3	Q8IUD6	RN135_HUMAN			5	1732	+		all_cancers(10;8.65e-08)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Myeloproliferative disorder(56;0.0255)	287			B30.2/SPRY.		A0AVM5|B2R7G9|B6ZLM5|F5GX60|Q9BSE9	Missense_Mutation	SNP	ENST00000328381.5	37	c.859C>T	CCDS11262.1	.	.	.	.	.	.	.	.	.	.	C	4.826	0.153543	0.09185	.	.	ENSG00000181481	ENST00000328381;ENST00000535605	T	0.61158	0.13	5.11	-1.09	0.09904	Concanavalin A-like lectin/glucanase (1);SPRY-associated (1);Butyrophylin-like (1);B30.2/SPRY domain (1);	1.451260	0.04455	N	0.373317	T	0.42787	0.1218	L	0.41079	1.255	0.09310	N	1	B	0.26120	0.142	B	0.24701	0.055	T	0.11867	-1.0570	10	0.15066	T	0.55	2.5694	3.564	0.07893	0.3948:0.3396:0.0:0.2656	.	287	Q8IUD6	RN135_HUMAN	S	287;106	ENSP00000328340:P287S	ENSP00000328340:P287S	P	+	1	0	RNF135	26349895	0.000000	0.05858	0.000000	0.03702	0.017000	0.09413	0.728000	0.26013	-0.013000	0.14199	0.655000	0.94253	CCA		0.522	RNF135-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256342.3	NM_032322		6	87	0	0	0	1	0	6	87					T	29325769	C	T	29325769	3	4	156	1	0	0	0	0	1	0	0	0	13440	623	22	3	946	3	RNF135	17	29325769	Missense_Mutation	SNP	C	TCGA-G9-6347-01A-11D-A31L-08		29325769	51869441	27	7600											
CDH7	1005	broad.mit.edu	37	chr18	63477082	63477082	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcgtgaggagcaggcctactAcacgctccgagctcaagcgc	9	6	12	14	4	1	1	1	1	0	0	3	3	2	2	2	2	5	3	2	2	3	2			TCGA-G9-6347-01A-11D-A31L-08	TCGA-G9-6347-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	470a25cd-eea8-4ca6-b91c-86e36397135a	b63236ea-caa8-44c1-ba56-d36c6c394c23	g.chr18:63477082A>G	ENST00000397968.2	+	3	779	c.353A>G	c.(352-354)tAc>tGc	p.Y118C	CDH7_ENST00000323011.3_Missense_Mutation_p.Y118C|CDH7_ENST00000536984.2_Missense_Mutation_p.Y118C	NM_004361.2	NP_004352.2	Q9ULB5	CADH7_HUMAN	cadherin 7, type 2	118	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	80		Esophageal squamous(42;0.129)				CAGGCCTACTACACGCTCCGA	0.502																																						ENST00000536984.2																			0				NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	80						c.(352-354)tAc>tGc		cadherin 7, type 2							77	71	73					18																	63477082		2203	4300	6503	SO:0001583	missense	1005				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr18:63477082A>G	AB035301	CCDS11993.1	18q22.1	2010-01-26			ENSG00000081138	ENSG00000081138		"Cadherins / Major cadherins"	1766	protein-coding gene	gene with protein product		605806				9615235	Standard	NM_033646		Approved		uc002ljz.3	Q9ULB5	OTTHUMG00000132800	ENST00000397968.2:c.353A>G	18.37:g.63477082A>G	ENSP00000381058:p.Tyr118Cys					CDH7_ENST00000397968.2_Missense_Mutation_p.Y118C|CDH7_ENST00000323011.3_Missense_Mutation_p.Y118C	p.Y118C			Q9ULB5	CADH7_HUMAN			3	1047	+		Esophageal squamous(42;0.129)	118			Cadherin 1.		Q9H157	Missense_Mutation	SNP	ENST00000397968.2	37	c.353A>G	CCDS11993.1	.	.	.	.	.	.	.	.	.	.	A	22.2	4.251614	0.80135	.	.	ENSG00000081138	ENST00000323011;ENST00000536984;ENST00000397966;ENST00000397968	T;T;T	0.69561	-0.41;-0.41;-0.41	5.83	5.83	0.93111	Cadherin (4);Cadherin-like (1);	0.066319	0.64402	D	0.000009	D	0.89181	0.6642	H	0.98333	4.205	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.93310	0.6684	10	0.87932	D	0	.	16.2193	0.82247	1.0:0.0:0.0:0.0	.	118;118	F5H5X9;Q9ULB5	.;CADH7_HUMAN	C	118	ENSP00000319166:Y118C;ENSP00000443030:Y118C;ENSP00000381058:Y118C	ENSP00000319166:Y118C	Y	+	2	0	CDH7	61628062	1.000000	0.71417	0.998000	0.56505	0.986000	0.74619	8.874000	0.92363	2.234000	0.73211	0.528000	0.53228	TAC		0.502	CDH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256217.2	NM_033646		3	73	0	0	0	1	0	3	73					G	63477082	A	G	63477082	3	3	156	1	0	0	0	0	1	0	0	0	3115	391	14	4	359	4	CDH7	18	63477082	Missense_Mutation	SNP	A	TCGA-G9-6347-01A-11D-A31L-08		63477082	14600166	28	7601											
KLK8	11202	broad.mit.edu	37	chr19	51499377	51499377	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcggcagatgttggtatagaCgccaggtttgtcggacctcc	7	10	14	10	3	0	2	0	0	0	2	2	3	1	3	3	4	0	4	3	4	2	4	rs56296296	byFrequency	TCGA-G9-6347-01A-11D-A31L-08	TCGA-G9-6347-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	470a25cd-eea8-4ca6-b91c-86e36397135a	b63236ea-caa8-44c1-ba56-d36c6c394c23	g.chr19:51499377C>T	ENST00000600767.1	-	7	1210	c.721G>A	c.(721-723)Gtc>Atc	p.V241I	CTB-147C22.9_ENST00000594512.1_RNA|KLK8_ENST00000391806.2_Missense_Mutation_p.V286I|KLK8_ENST00000593490.1_3'UTR|KLK8_ENST00000320838.5_3'UTR|KLK8_ENST00000347619.4_Missense_Mutation_p.V100I|KLK8_ENST00000291726.7_Missense_Mutation_p.V241I|KLK8_ENST00000598195.1_5'UTR			O60259	KLK8_HUMAN	kallikrein-related peptidase 8	241	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				cell death (GO:0008219)|keratinocyte proliferation (GO:0043616)|memory (GO:0007613)|negative regulation of axon regeneration (GO:0048681)|negative regulation of myelination (GO:0031642)|neuron projection morphogenesis (GO:0048812)|regulation of synapse organization (GO:0050807)|response to wounding (GO:0009611)|synapse organization (GO:0050808)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	serine-type endopeptidase activity (GO:0004252)	p.V286I(1)		central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(8)|prostate(1)	15		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.0033)|GBM - Glioblastoma multiforme(134;0.00888)		TTGGTATAGACGCCAGGTTTG	0.542																																						ENST00000600767.1																			1	Substitution - Missense(1)	p.V286I(1)	lung(1)	central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(8)|prostate(1)	15						c.(721-723)Gtc>Atc		kallikrein-related peptidase 8		C	ILE/VAL,ILE/VAL,ILE/VAL,	1,4405	2.1+/-5.4	0,1,2202	174	161	165		721,856,298,	3.6	0.9	19	dbSNP_129	165	0,8600		0,0,4300	no	missense,missense,missense,utr-3	KLK8	NM_007196.2,NM_144505.1,NM_144506.1,NM_144507.1	29,29,29,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging,probably-damaging,probably-damaging,	241/261,286/306,100/120,	51499377	1,13005	2203	4300	6503	SO:0001583	missense	11202				cell death|keratinocyte proliferation|memory|negative regulation of axon regeneration|negative regulation of myelination|neuron projection morphogenesis|proteolysis|regulation of synapse organization|response to wounding	cytoplasm|extracellular space	protein binding|serine-type endopeptidase activity	g.chr19:51499377C>T	AB008390	CCDS12813.1, CCDS12814.1, CCDS12815.1, CCDS42600.1, CCDS74433.1	19q13	2011-09-07	2006-10-27			ENSG00000129455		"Kallikreins", "Serine peptidases / Serine peptidases"	6369	protein-coding gene	gene with protein product		605644	"kallikrein 8 (neuropsin/ovasin)"	PRSS19		10102990, 9714609, 16800724, 16800723	Standard	NM_144505		Approved	HNP, TADG14, neuropsin, ovasin	uc002pur.1	O60259		ENST00000600767.1:c.721G>A	19.37:g.51499377C>T	ENSP00000472016:p.Val241Ile					KLK8_ENST00000391806.2_Missense_Mutation_p.V286I|KLK8_ENST00000347619.4_Missense_Mutation_p.V100I|KLK8_ENST00000320838.5_3'UTR|KLK8_ENST00000593490.1_3'UTR|KLK8_ENST00000598195.1_5'UTR|KLK8_ENST00000291726.7_Missense_Mutation_p.V241I|CTB-147C22.9_ENST00000594512.1_RNA	p.V241I			O60259	KLK8_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0033)|GBM - Glioblastoma multiforme(134;0.00888)	7	1210	-		all_neural(266;0.026)	241			Peptidase S1.		Q5V9X1|Q5V9X2|Q8IW69|Q9HCB3|Q9NR68|Q9NR69|Q9UIL9|Q9UQ47	Missense_Mutation	SNP	ENST00000600767.1	37	c.721G>A	CCDS12813.1	.	.	.	.	.	.	.	.	.	.	C	14.66	2.602044	0.46423	2.27E-4	0.0	ENSG00000129455	ENST00000391806;ENST00000291726;ENST00000347619	D;D;D	0.90732	-2.72;-2.72;-2.72	4.66	3.62	0.41486	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.39834	N	0.001253	D	0.92331	0.7567	L	0.52905	1.665	0.80722	D	1	D;D;D	0.89917	0.999;0.999;1.0	D;D;D	0.85130	0.995;0.968;0.997	D	0.90875	0.4749	10	0.48119	T	0.1	.	7.4155	0.27042	0.0:0.8058:0.0:0.1942	rs56296296	100;241;286	O60259-3;O60259;O60259-2	.;KLK8_HUMAN;.	I	286;241;100	ENSP00000375682:V286I;ENSP00000291726:V241I;ENSP00000341555:V100I	ENSP00000291726:V241I	V	-	1	0	KLK8	56191189	0.998000	0.40836	0.855000	0.33649	0.063000	0.16089	3.907000	0.56348	1.308000	0.44962	0.563000	0.77884	GTC		0.542	KLK8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465032.2	NM_007196		4	174	0	0	0	1	0	4	174					T	51499377	C	T	51499377	3	4	156	1	0	0	0	0	1	0	0	0	8410	536	19	1	65	1	KLK8	19	51499377	Missense_Mutation	SNP	C	TCGA-G9-6347-01A-11D-A31L-08		51499377	7629606	29	7602											
HM13	81502	broad.mit.edu	37	chr20	30115327	30115327	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	aacaatcaccagccgggatgCcgcccgcttccccatcatcg	9	6	8	18	4	2	0	2	0	0	0	4	1	3	1	6	1	3	1	6	1	2	1			TCGA-G9-6347-01A-11D-A31L-08	TCGA-G9-6347-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	470a25cd-eea8-4ca6-b91c-86e36397135a	b63236ea-caa8-44c1-ba56-d36c6c394c23	g.chr20:30115327C>T	ENST00000340852.5	+	2	348	c.224C>T	c.(223-225)gCc>gTc	p.A75V	HM13_ENST00000398174.3_Missense_Mutation_p.A75V|HM13_ENST00000335574.5_Missense_Mutation_p.A75V|HM13_ENST00000376127.3_Missense_Mutation_p.A75V	NM_030789.2	NP_110416.1	Q8TCT9	HM13_HUMAN	histocompatibility (minor) 13	75					membrane protein proteolysis (GO:0033619)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of cytoplasmic side of endoplasmic reticulum membrane (GO:0071458)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|membrane (GO:0016020)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)	aspartic endopeptidase activity, intramembrane cleaving (GO:0042500)|peptidase activity (GO:0008233)|protein homodimerization activity (GO:0042803)			breast(1)|endometrium(2)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	12	all_cancers(5;3.44e-05)|Lung NSC(7;4.38e-06)|all_lung(7;7.65e-06)|all_hematologic(12;0.158)|Ovarian(7;0.198)		all cancers(5;0.000479)|Colorectal(19;0.00202)|COAD - Colon adenocarcinoma(19;0.0264)			AGCCGGGATGCCGCCCGCTTC	0.502																																						ENST00000335574.5																			0				breast(1)|endometrium(2)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	12						c.(223-225)gCc>gTc		histocompatibility (minor) 13							150	150	150					20																	30115327		2203	4300	6503	SO:0001583	missense	81502				membrane protein proteolysis	cell surface|endoplasmic reticulum membrane|integral to membrane|plasma membrane	aspartic-type endopeptidase activity|protein binding	g.chr20:30115327C>T	AL110115	CCDS13182.1, CCDS13183.1, CCDS42861.1	20q11.21	2012-02-21			ENSG00000101294	ENSG00000101294			16435	protein-coding gene	gene with protein product	"signal peptide peptidase beta", "presenilin-like protein 3", "intramembrane protease", "signal peptide peptidase like 1"	607106				12077416, 14704149	Standard	NM_030789		Approved	H13, dJ324O17.1, SPP, PSL3, IMP1, IMPAS, PSENL3, SPPL1	uc002wwc.3	Q8TCT9	OTTHUMG00000032175	ENST00000340852.5:c.224C>T	20.37:g.30115327C>T	ENSP00000343032:p.Ala75Val					HM13_ENST00000340852.5_Missense_Mutation_p.A75V|HM13_ENST00000398174.3_Missense_Mutation_p.A75V|HM13_ENST00000376127.3_Missense_Mutation_p.A75V	p.A75V	NM_178580.1	NP_848695.1	Q8TCT9	HM13_HUMAN	all cancers(5;0.000479)|Colorectal(19;0.00202)|COAD - Colon adenocarcinoma(19;0.0264)		2	348	+	all_cancers(5;3.44e-05)|Lung NSC(7;4.38e-06)|all_lung(7;7.65e-06)|all_hematologic(12;0.158)|Ovarian(7;0.198)		75					B2RAY5|E1P5L3|Q15K36|Q540H8|Q5JWP2|Q5JWP3|Q5JWP4|Q5JWP5|Q7Z4F2|Q86Y35|Q95H87|Q9H110|Q9H111	Missense_Mutation	SNP	ENST00000340852.5	37	c.224C>T	CCDS13182.1	.	.	.	.	.	.	.	.	.	.	C	33	5.286089	0.95517	.	.	ENSG00000101294	ENST00000335574;ENST00000340852;ENST00000398174;ENST00000376127;ENST00000344042	T;T;T;T;T	0.29397	1.57;1.57;1.57;1.57;1.57	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	T	0.59824	0.2222	M	0.80508	2.5	0.80722	D	1	P;D;D;D	0.69078	0.952;0.997;0.994;0.996	P;D;P;D	0.74348	0.71;0.919;0.885;0.983	T	0.61715	-0.7006	10	0.59425	D	0.04	-14.1589	18.5426	0.91035	0.0:1.0:0.0:0.0	.	75;75;75;75	Q8TCT9;Q8TCT9-4;Q8TCT9-2;Q8TCT9-5	HM13_HUMAN;.;.;.	V	75	ENSP00000335294:A75V;ENSP00000343032:A75V;ENSP00000381237:A75V;ENSP00000365296:A75V;ENSP00000341347:A75V	ENSP00000335294:A75V	A	+	2	0	HM13	29578988	1.000000	0.71417	0.486000	0.27416	0.990000	0.78478	6.741000	0.74837	2.719000	0.93026	0.555000	0.69702	GCC		0.502	HM13-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078527.2	NM_178580		4	163	0	0	0	1	0	4	163					T	30115327	C	T	30115327	3	4	156	1	0	0	0	0	1	0	0	0	7217	739	26	3	230	3	HM13	20	30115327	Missense_Mutation	SNP	C	TCGA-G9-6347-01A-11D-A31L-08		30115327	32910193	30	7603											
SLCO4A1	28231	broad.mit.edu	37	chr20	61288286	61288286	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgcctctgcctcaccttcgtCagctacttcgggggctcagg	4	11	11	15	2	4	0	3	0	1	0	6	0	4	0	3	3	4	2	3	3	1	3			TCGA-G9-6347-01A-11D-A31L-08	TCGA-G9-6347-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	470a25cd-eea8-4ca6-b91c-86e36397135a	b63236ea-caa8-44c1-ba56-d36c6c394c23	g.chr20:61288286C>T	ENST00000370507.1	+	1	576	c.480C>T	c.(478-480)gtC>gtT	p.V160V	SLCO4A1_ENST00000217159.1_Silent_p.V160V			Q96BD0	SO4A1_HUMAN	solute carrier organic anion transporter family, member 4A1	160					sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			endometrium(6)|kidney(2)|large_intestine(1)|lung(7)|ovary(3)|prostate(2)	21	Breast(26;3.65e-08)		BRCA - Breast invasive adenocarcinoma(19;2.33e-06)		Benzylpenicillin(DB01053)|Conjugated Estrogens(DB00286)|Dextrothyroxine(DB00509)|Digoxin(DB00390)|Dinoprostone(DB00917)|Estradiol(DB00783)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)	TCACCTTCGTCAGCTACTTCG	0.667																																					Pancreas(168;741 2006 10379 40139 45334)	ENST00000217159.1																			0				endometrium(6)|kidney(2)|large_intestine(1)|lung(7)|ovary(3)|prostate(2)	21						c.(478-480)gtC>gtT		solute carrier organic anion transporter family, member 4A1							39	42	41					20																	61288286		2202	4297	6499	SO:0001819	synonymous_variant	28231				sodium-independent organic anion transport	integral to membrane|plasma membrane	thyroid hormone transmembrane transporter activity	g.chr20:61288286C>T	AB031051	CCDS13501.1	20q13.1	2013-05-22	2003-11-25	2003-11-26	ENSG00000101187	ENSG00000101187		"Solute carriers"	10953	protein-coding gene	gene with protein product		612436	"solute carrier family 21 (organic anion transporter), member 12"	SLC21A12		10873595	Standard	NM_016354		Approved	OATP-E, OATP4A1	uc002ydb.1	Q96BD0	OTTHUMG00000032923	ENST00000370507.1:c.480C>T	20.37:g.61288286C>T						SLCO4A1_ENST00000370507.1_Silent_p.V160V	p.V160V	NM_016354.3	NP_057438.3	Q96BD0	SO4A1_HUMAN	BRCA - Breast invasive adenocarcinoma(19;2.33e-06)		2	685	+	Breast(26;3.65e-08)		160					Q9H4T7|Q9H4T8|Q9H8P2|Q9NWX8|Q9UI35|Q9UIG7	Silent	SNP	ENST00000370507.1	37	c.480C>T	CCDS13501.1																																																																																				0.667	SLCO4A1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080048.2	NM_016354		9	73	0	0	0	1	0	9	73					T	61288286	C	T	61288286	2	4	156	1	0	0	0	0	0	0	0	1	14729	813	29	3		3	SLCO4A1	20	61288286	Silent	SNP	C	TCGA-G9-6347-01A-11D-A31L-08	31172959	61288286	1737234	31	7604											
MFN2	9927	broad.mit.edu	37	chr1	12058937	12058937	+	Splice_Site	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtccaccctgatgcagacggTaactcctcctctgccttctc	6	11	7	17	1	2	2	0	1	2	1	6	2	5	2	5	1	3	2	5	1	1	2			TCGA-G9-6348-01A-11D-1786-08	TCGA-G9-6348-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	663c2f26-4e49-4752-bde5-fb5e9229daf9	e6ab50da-966a-4429-95c9-36e22d269e25	g.chr1:12058937T>A	ENST00000235329.5	+	7	1030		c.e7+2		MFN2_ENST00000444836.1_Splice_Site	NM_014874.3	NP_055689.1	O95140	MFN2_HUMAN	mitofusin 2						apoptotic process (GO:0006915)|autophagy (GO:0006914)|blastocyst formation (GO:0001825)|blood coagulation (GO:0007596)|camera-type eye morphogenesis (GO:0048593)|mitochondrial fusion (GO:0008053)|mitochondrial membrane organization (GO:0007006)|mitochondrion localization (GO:0051646)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of smooth muscle cell proliferation (GO:0048662)|protein localization to pre-autophagosomal structure (GO:0034497)|protein targeting to mitochondrion (GO:0006626)|response to unfolded protein (GO:0006986)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|intrinsic component of mitochondrial outer membrane (GO:0031306)|microtubule cytoskeleton (GO:0015630)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|ubiquitin protein ligase binding (GO:0031625)	p.?(1)		endometrium(4)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(2)	20	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;7.25e-06)|COAD - Colon adenocarcinoma(227;0.000302)|BRCA - Breast invasive adenocarcinoma(304;0.000329)|Kidney(185;0.000896)|KIRC - Kidney renal clear cell carcinoma(229;0.00274)|STAD - Stomach adenocarcinoma(313;0.00773)|READ - Rectum adenocarcinoma(331;0.0656)		ATGCAGACGGTAACTCCTCCT	0.577																																						ENST00000235329.5																			1	Unknown(1)	p.?(1)	prostate(1)	endometrium(4)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(2)	20						c.e7+2		mitofusin 2							202	171	181					1																	12058937		2203	4300	6503	SO:0001630	splice_region_variant	9927				blood coagulation|mitochondrial fusion|mitochondrial membrane organization|mitochondrion localization|negative regulation of Ras protein signal transduction|negative regulation of smooth muscle cell proliferation|protein targeting to mitochondrion	cytosol|integral to membrane|intrinsic to mitochondrial outer membrane	GTP binding|GTPase activity|ubiquitin protein ligase binding	g.chr1:12058937T>A	AF036536	CCDS30587.1	1p36.22	2014-09-17			ENSG00000116688	ENSG00000116688			16877	protein-coding gene	gene with protein product		608507				12499352, 11181170	Standard	NM_014874		Approved	CPRP1, KIAA0214, MARF, CMT2A2	uc009vni.3	O95140	OTTHUMG00000002392	ENST00000235329.5:c.708+2T>A	1.37:g.12058937T>A						MFN2_ENST00000444836.1_Splice_Site		NM_014874.3	NP_055689.1	O95140	MFN2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;7.25e-06)|COAD - Colon adenocarcinoma(227;0.000302)|BRCA - Breast invasive adenocarcinoma(304;0.000329)|Kidney(185;0.000896)|KIRC - Kidney renal clear cell carcinoma(229;0.00274)|STAD - Stomach adenocarcinoma(313;0.00773)|READ - Rectum adenocarcinoma(331;0.0656)	7	1030	+	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)						A8K1B3|O95572|Q5JXC3|Q5JXC4|Q9H131|Q9NSX8	Splice_Site	SNP	ENST00000235329.5	37		CCDS30587.1	.	.	.	.	.	.	.	.	.	.	T	13.32	2.201407	0.38905	.	.	ENSG00000116688	ENST00000444836;ENST00000235329	.	.	.	4.9	3.75	0.43078	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.2221	0.43203	0.1486:0.0:0.0:0.8514	.	.	.	.	.	-1	.	.	.	+	.	.	MFN2	11981524	1.000000	0.71417	0.949000	0.38748	0.414000	0.31173	7.666000	0.83877	0.704000	0.31869	-0.336000	0.08194	.		0.577	MFN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006859.2	NM_014874	Intron	14	120	0	0	0	0.105934	0	14	120					A	12058937	T	A	12058937	5	1	157	1	0	0	0	0	0	0	1	0	9524	1652	57	5	728	5	MFN2	1	12058937	Splice_Site	SNP	T	TCGA-G9-6348-01A-11D-1786-08		12058937	237191684	1	7605											
GRIK3	2899	broad.mit.edu	37	chr1	37324731	37324731	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccttgatgaagttcatgaagCggccgccaaagcgccaggcc	10	6	12	13	3	1	3	1	3	0	0	1	3	1	3	5	2	2	1	5	2	3	2	rs569112734		TCGA-G9-6348-01A-11D-1786-08	TCGA-G9-6348-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	663c2f26-4e49-4752-bde5-fb5e9229daf9	e6ab50da-966a-4429-95c9-36e22d269e25	g.chr1:37324731C>T	ENST00000373091.3	-	7	1098	c.1082G>A	c.(1081-1083)cGc>cAc	p.R361H	GRIK3_ENST00000462621.1_5'UTR|GRIK3_ENST00000373093.4_Missense_Mutation_p.R361H	NM_000831.3	NP_000822.2	Q13003	GRIK3_HUMAN	glutamate receptor, ionotropic, kainate 3	361					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	axon (GO:0030424)|cell junction (GO:0030054)|dendrite (GO:0030425)|dendrite cytoplasm (GO:0032839)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	adenylate cyclase inhibiting G-protein coupled glutamate receptor activity (GO:0001640)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|ionotropic glutamate receptor activity (GO:0004970)|kainate selective glutamate receptor activity (GO:0015277)	p.R361H(2)		breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	89		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)				GTTCATGAAGCGGCCGCCAAA	0.627													C|||	1	0.000199681	0	0	5008	,	,		18567	0		0	False		,,,				2504	0.001					ENST00000373091.3																			2	Substitution - Missense(2)	p.R361H(2)	prostate(1)|lung(1)	breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	89						c.(1081-1083)cGc>cAc		glutamate receptor, ionotropic, kainate 3	L-Glutamic Acid(DB00142)						77	81	80					1																	37324731		2203	4300	6503	SO:0001583	missense	2899				negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission	cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button	adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|G-protein-coupled receptor binding|kainate selective glutamate receptor activity	g.chr1:37324731C>T	U16127	CCDS416.1	1p34.3	2012-08-29			ENSG00000163873	ENSG00000163873		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4581	protein-coding gene	gene with protein product		138243				8128318	Standard	NM_000831		Approved	GluK3, GLUR7	uc001caz.2	Q13003	OTTHUMG00000004189	ENST00000373091.3:c.1082G>A	1.37:g.37324731C>T	ENSP00000362183:p.Arg361His					GRIK3_ENST00000373093.4_Missense_Mutation_p.R361H|GRIK3_ENST00000462621.1_5'UTR	p.R361H	NM_000831.3	NP_000822.2	Q13003	GRIK3_HUMAN			7	1098	-		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)	361					A9Z1Z8|B1AMS6|Q13004|Q16136	Missense_Mutation	SNP	ENST00000373091.3	37	c.1082G>A	CCDS416.1	.	.	.	.	.	.	.	.	.	.	C	35	5.578993	0.96565	.	.	ENSG00000163873	ENST00000373091;ENST00000373093	D;D	0.83163	-1.69;-1.69	5.68	5.68	0.88126	Extracellular ligand-binding receptor (1);	0.000000	0.85682	D	0.000000	D	0.89037	0.6601	M	0.71581	2.175	0.80722	D	1	D;D	0.55605	0.972;0.963	P;P	0.55545	0.778;0.703	D	0.88965	0.3396	10	0.54805	T	0.06	.	19.7849	0.96432	0.0:1.0:0.0:0.0	.	361;361	A9Z1Z8;Q13003	.;GRIK3_HUMAN	H	361	ENSP00000362183:R361H;ENSP00000362185:R361H	ENSP00000362183:R361H	R	-	2	0	GRIK3	37097318	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.785000	0.68998	2.671000	0.90904	0.650000	0.86243	CGC		0.627	GRIK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012053.1	NM_000831		20	88	0	0	0	0.043863	0	20	88					T	37324731	C	T	37324731	3	4	157	1	0	0	0	0	1	0	0	0	6775	768	27	1	1717	1	GRIK3	1	37324731	Missense_Mutation	SNP	C	TCGA-G9-6348-01A-11D-1786-08	25265794	37324731	211925890	2	7606											
LRRIQ3	127255	broad.mit.edu	37	chr1	74507397	74507397	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gctctttgtggtgcaaaaaaCtctttcatactccgctccaa	10	13	6	12	1	3	0	1	0	2	0	5	0	5	0	2	1	3	3	2	1	5	3			TCGA-G9-6348-01A-11D-1786-08	TCGA-G9-6348-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	663c2f26-4e49-4752-bde5-fb5e9229daf9	e6ab50da-966a-4429-95c9-36e22d269e25	g.chr1:74507397C>A	ENST00000395089.1	-	6	1217	c.1218G>T	c.(1216-1218)gaG>gaT	p.E406D	LRRIQ3_ENST00000354431.4_Missense_Mutation_p.E406D			A6PVS8	LRIQ3_HUMAN	leucine-rich repeats and IQ motif containing 3	406								p.E406D(1)		NS(2)|breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(13)|liver(1)|lung(27)|ovary(3)|prostate(1)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(5)	73						GTGCAAAAAACTCTTTCATAC	0.343																																						ENST00000354431.4																			1	Substitution - Missense(1)	p.E406D(1)	prostate(1)	NS(2)|breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(13)|liver(1)|lung(27)|ovary(3)|prostate(1)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(5)	73						c.(1216-1218)gaG>gaT		leucine-rich repeats and IQ motif containing 3							121	109	113					1																	74507397		1841	4084	5925	SO:0001583	missense	127255							g.chr1:74507397C>A	BX647210	CCDS41350.1	1p31.1	2008-06-12	2008-06-12	2008-06-12	ENSG00000162620	ENSG00000162620			28318	protein-coding gene	gene with protein product			"leucine rich repeat containing 44"	LRRC44		12477932	Standard	NM_001105659		Approved	MGC22773	uc001dfy.4	A6PVS8	OTTHUMG00000009508	ENST00000395089.1:c.1218G>T	1.37:g.74507397C>A	ENSP00000378524:p.Glu406Asp					LRRIQ3_ENST00000395089.1_Missense_Mutation_p.E406D	p.E406D	NM_001105659.1	NP_001099129.1	A6PVS8	LRIQ3_HUMAN			7	1409	-			406					A6PVS9|Q6P5P7|Q6ZMV4|Q8WUE0	Missense_Mutation	SNP	ENST00000395089.1	37	c.1218G>T	CCDS41350.1	.	.	.	.	.	.	.	.	.	.	C	13.05	2.120528	0.37436	.	.	ENSG00000162620	ENST00000395089;ENST00000354431	T;T	0.09350	2.99;2.99	5.56	-3.38	0.04883	.	0.977354	0.08343	N	0.960578	T	0.02304	0.0071	L	0.32530	0.975	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.48854	-0.8998	10	0.66056	D	0.02	.	5.3268	0.15910	0.2353:0.2276:0.4624:0.0748	.	406	A6PVS8	LRIQ3_HUMAN	D	406	ENSP00000378524:E406D;ENSP00000346414:E406D	ENSP00000346414:E406D	E	-	3	2	LRRIQ3	74279985	0.002000	0.14202	0.043000	0.18650	0.073000	0.16967	-0.540000	0.06106	-0.428000	0.07339	-0.283000	0.09986	GAG		0.343	LRRIQ3-008	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316539.1	NM_145258		15	74	1	0	3.27435e-08	0.020292	4.00826e-08	15	74					A	74507397	C	A	74507397	3	1	157	1	0	0	0	0	1	0	0	0	9030	564	20	5	664	5	LRRIQ3	1	74507397	Missense_Mutation	SNP	C	TCGA-G9-6348-01A-11D-1786-08	37182666	74507397	174743224	3	7607											
SV2A	9900	broad.mit.edu	37	chr1	149885276	149885276	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacgatcttcgggaatattcGtcctggactctgtccaggcc	7	12	10	12	3	2	0	0	0	2	0	6	3	4	2	3	3	1	0	3	3	3	4	rs368036992		TCGA-G9-6348-01A-11D-1786-08	TCGA-G9-6348-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	663c2f26-4e49-4752-bde5-fb5e9229daf9	e6ab50da-966a-4429-95c9-36e22d269e25	g.chr1:149885276G>A	ENST00000369146.3	-	2	607	c.117C>T	c.(115-117)gaC>gaT	p.D39D	SV2A_ENST00000369145.1_Silent_p.D39D	NM_001278719.1|NM_014849.3	NP_001265648.1|NP_055664.3	Q7L0J3	SV2A_HUMAN	synaptic vesicle glycoprotein 2A	39	Interaction with SYT1. {ECO:0000250}.				cellular calcium ion homeostasis (GO:0006874)|neurotransmitter transport (GO:0006836)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuromuscular junction (GO:0031594)|neuron projection (GO:0043005)|presynaptic active zone (GO:0048786)|synaptic vesicle (GO:0008021)|synaptic vesicle membrane (GO:0030672)	protein kinase binding (GO:0019901)|receptor activity (GO:0004872)|transmembrane transporter activity (GO:0022857)	p.D39D(2)		breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(16)|ovary(6)|pancreas(1)|prostate(8)|skin(2)|urinary_tract(2)	55	Breast(34;0.00769)|all_hematologic(923;0.127)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)		Levetiracetam(DB01202)	GGGAATATTCGTCCTGGACTC	0.542																																						ENST00000369146.3																			2	Substitution - coding silent(2)	p.D39D(2)	prostate(2)	breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(16)|ovary(6)|pancreas(1)|prostate(8)|skin(2)|urinary_tract(2)	55						c.(115-117)gaC>gaT		synaptic vesicle glycoprotein 2A	Levetiracetam(DB01202)	G		1,4405	2.1+/-5.4	0,1,2202	140	124	130		117	-10.4	0.4	1		130	0,8600		0,0,4300	no	coding-synonymous	SV2A	NM_014849.3		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		39/743	149885276	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0				neurotransmitter transport	cell junction|endoplasmic reticulum|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity	g.chr1:149885276G>A	AB018279	CCDS940.1	1q21.2	2008-02-05			ENSG00000159164	ENSG00000159164			20566	protein-coding gene	gene with protein product		185860				7681585, 10611374	Standard	NM_014849		Approved	SV2, KIAA0736	uc001etg.3	Q7L0J3	OTTHUMG00000012209	ENST00000369146.3:c.117C>T	1.37:g.149885276G>A						SV2A_ENST00000369145.1_Silent_p.D39D	p.D39D	NM_014849.3	NP_055664.3	Q7L0J3	SV2A_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)		2	607	-	Breast(34;0.00769)|all_hematologic(923;0.127)|Colorectal(459;0.171)		39			Interaction with SYT1 (By similarity).		D3DUZ7|O94841|Q5QNX8|Q7Z3L6|Q8NBJ6|Q9BVZ9	Silent	SNP	ENST00000369146.3	37	c.117C>T	CCDS940.1																																																																																				0.542	SV2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033754.1			19	94	0	0	0	0.043863	0	19	94					A	149885276	G	A	149885276	2	1	157	1	0	0	0	0	0	0	0	1	15414	1136	40	1		1	SV2A	1	149885276	Silent	SNP	G	TCGA-G9-6348-01A-11D-1786-08	75377879	149885276	99365345	4	7608											
ARHGAP30	257106	broad.mit.edu	37	chr1	161022538	161022538	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ataaggtcctcggggctgccTgatgcccgggtccctggaag	6	8	15	12	2	0	1	0	1	0	0	3	2	2	2	4	5	2	1	4	5	2	1			TCGA-G9-6348-01A-11D-1786-08	TCGA-G9-6348-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	663c2f26-4e49-4752-bde5-fb5e9229daf9	e6ab50da-966a-4429-95c9-36e22d269e25	g.chr1:161022538T>C	ENST00000368013.3	-	7	1034	c.714A>G	c.(712-714)tcA>tcG	p.S238S	ARHGAP30_ENST00000368015.1_Silent_p.S61S|ARHGAP30_ENST00000368016.3_Silent_p.S238S	NM_001025598.1|NM_181720.2	NP_001020769.1|NP_859071.2	Q7Z6I6	RHG30_HUMAN	Rho GTPase activating protein 30	238					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)	GTPase activator activity (GO:0005096)	p.S238S(2)		breast(2)|cervix(3)|endometrium(4)|kidney(2)|large_intestine(4)|lung(6)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	all_cancers(52;8.05e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00122)			CGGGGCTGCCTGATGCCCGGG	0.607																																						ENST00000368013.3																			2	Substitution - coding silent(2)	p.S238S(2)	prostate(2)	breast(2)|cervix(3)|endometrium(4)|kidney(2)|large_intestine(4)|lung(6)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						c.(712-714)tcA>tcG		Rho GTPase activating protein 30							59	61	60					1																	161022538		2203	4300	6503	SO:0001819	synonymous_variant	257106				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	g.chr1:161022538T>C	AL832852	CCDS1215.1, CCDS30918.1, CCDS72958.1	1q23.3	2011-06-29			ENSG00000186517	ENSG00000186517		"Rho GTPase activating proteins"	27414	protein-coding gene	gene with protein product		614264					Standard	NM_001287602		Approved	FLJ00267	uc001fxl.3	Q7Z6I6	OTTHUMG00000031477	ENST00000368013.3:c.714A>G	1.37:g.161022538T>C						ARHGAP30_ENST00000368015.1_Silent_p.S61S|ARHGAP30_ENST00000368016.3_Silent_p.S238S	p.S238S	NM_001025598.1|NM_181720.2	NP_001020769.1|NP_859071.2	Q7Z6I6	RHG30_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00122)		7	1034	-	all_cancers(52;8.05e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		238					Q5SY52|Q5SY53|Q5SY54|Q6ZML6|Q7Z3J8|Q86XI7	Silent	SNP	ENST00000368013.3	37	c.714A>G	CCDS30918.1																																																																																				0.607	ARHGAP30-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077090.2	NM_181720		3	63	0	0	0	0.004672	0	3	63					C	161022538	T	C	161022538	2	2	157	1	0	0	0	0	0	0	0	1	879	1567	55	4		4	ARHGAP30	1	161022538	Silent	SNP	T	TCGA-G9-6348-01A-11D-1786-08	11137262	161022538	88228083	5	7609											
TNN	63923	broad.mit.edu	37	chr1	175086262	175086262	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtcctgacgggcctgaggccGggtgtggagtacacggtgca	6	7	18	10	3	0	2	0	2	0	0	1	3	1	3	3	5	2	2	3	5	1	1	rs138969989		TCGA-G9-6348-01A-11D-1786-08	TCGA-G9-6348-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	663c2f26-4e49-4752-bde5-fb5e9229daf9	e6ab50da-966a-4429-95c9-36e22d269e25	g.chr1:175086262G>A	ENST00000239462.4	+	10	2420	c.2307G>A	c.(2305-2307)ccG>ccA	p.P769P		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	769	Fibronectin type-III 6. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axonogenesis (GO:0007409)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)	cell surface (GO:0009986)|proteinaceous extracellular matrix (GO:0005578)		p.P769P(1)		NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		GCCTGAGGCCGGGTGTGGAGT	0.617													G|||	1	0.000199681	0	0	5008	,	,		18803	0.001		0	False		,,,				2504	0					ENST00000239462.4																			1	Substitution - coding silent(1)	p.P769P(1)	prostate(1)	NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156						c.(2305-2307)ccG>ccA		tenascin N							88	82	84					1																	175086262		2203	4300	6503	SO:0001819	synonymous_variant	63923				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix		g.chr1:175086262G>A	AK127044	CCDS30943.1	1q23-q24	2013-02-11			ENSG00000120332	ENSG00000120332		"Fibrinogen C domain containing", "Fibronectin type III domain containing"	22942	protein-coding gene	gene with protein product							Standard	NM_022093		Approved		uc001gkl.1	Q9UQP3	OTTHUMG00000034882	ENST00000239462.4:c.2307G>A	1.37:g.175086262G>A							p.P769P	NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)	10	2420	+		Breast(1374;0.000962)	769			Fibronectin type-III 6.		B9EGP3|Q5R360	Silent	SNP	ENST00000239462.4	37	c.2307G>A	CCDS30943.1																																																																																				0.617	TNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084422.1	XM_040527		19	101	0	0	0	0.038395	0	19	101					A	175086262	G	A	175086262	2	1	157	1	0	0	0	0	0	0	0	1	16320	1103	39	2		2	TNN	1	175086262	Silent	SNP	G	TCGA-G9-6348-01A-11D-1786-08	14063724	175086262	74164359	6	7610											
CFHR5	81494	broad.mit.edu	37	chr1	196952162	196952162	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttcaaaatccttttggactcGcataacatgcacagaagaag	15	10	7	9	1	1	2	1	0	0	2	3	3	2	3	1	1	2	2	1	1	5	4	rs375843181		TCGA-G9-6348-01A-11D-1786-08	TCGA-G9-6348-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	663c2f26-4e49-4752-bde5-fb5e9229daf9	e6ab50da-966a-4429-95c9-36e22d269e25	g.chr1:196952162G>A	ENST00000256785.4	+	2	315	c.206G>A	c.(205-207)cGc>cAc	p.R69H	CFHR5_ENST00000367414.5_Missense_Mutation_p.R93H			Q9BXR6	FHR5_HUMAN	complement factor H-related 5	69	Sushi 1. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation, alternative pathway (GO:0006957)	extracellular region (GO:0005576)		p.R69H(1)		NS(2)|breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(23)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	49						TTTTGGACTCGCATAACATGC	0.393																																						ENST00000367414.5																			1	Substitution - Missense(1)	p.R69H(1)	prostate(1)	NS(2)|breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(23)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	49						c.(277-279)cGc>cAc		complement factor H-related 5		G	HIS/ARG	1,4405		0,1,2202	117	105	109		206	-4.1	0	1		109	0,8600		0,0,4300	no	missense	CFHR5	NM_030787.3	29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	69/570	196952162	1,13005	2203	4300	6503	SO:0001583	missense	81494				complement activation, alternative pathway	extracellular region		g.chr1:196952162G>A	AF295327	CCDS1387.1	1q31.3	2014-09-17		2006-02-28	ENSG00000134389	ENSG00000134389		"Complement system"	24668	protein-coding gene	gene with protein product	"factor H related protein 5"	608593		CFHL5		11058592, 12041828	Standard	NM_030787		Approved	FHR5, FHR-5	uc001gts.4	Q9BXR6	OTTHUMG00000036517	ENST00000256785.4:c.206G>A	1.37:g.196952162G>A	ENSP00000256785:p.Arg69His					CFHR5_ENST00000256785.4_Missense_Mutation_p.R69H	p.R93H	NM_030787.3	NP_110414.1	Q9BXR6	FHR5_HUMAN			2	334	+			69			Sushi 2.		Q2NKK2	Missense_Mutation	SNP	ENST00000256785.4	37	c.278G>A	CCDS1387.1	.	.	.	.	.	.	.	.	.	.	.	11.96	1.794607	0.31777	2.27E-4	0.0	ENSG00000134389	ENST00000367414;ENST00000256785	T;T	0.64803	-0.12;-0.12	2.45	-4.13	0.03904	Complement control module (2);Sushi/SCR/CCP (2);	.	.	.	.	T	0.45296	0.1335	L	0.46157	1.445	0.09310	N	1	B	0.25521	0.128	B	0.20955	0.032	T	0.24728	-1.0152	9	0.31617	T	0.26	.	4.0223	0.09672	0.3876:0.3452:0.2672:0.0	.	69	Q9BXR6	FHR5_HUMAN	H	93;69	ENSP00000356384:R93H;ENSP00000256785:R69H	ENSP00000256785:R69H	R	+	2	0	CFHR5	195218785	0.000000	0.05858	0.002000	0.10522	0.603000	0.37013	-2.581000	0.00906	-1.048000	0.03238	0.305000	0.20034	CGC		0.393	CFHR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088814.2	NM_030787		10	57	0	0	0	0.058154	0	10	57					A	196952162	G	A	196952162	3	1	157	1	0	0	0	0	1	0	0	0	3288	1087	38	1	212	1	CFHR5	1	196952162	Missense_Mutation	SNP	G	TCGA-G9-6348-01A-11D-1786-08	21865900	196952162	52298459	7	7611											
NRXN1	9378	broad.mit.edu	37	chr2	51255226	51255226	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tagagcacgaggccgcgggcGctgcgagtcttgagctggaa	8	6	17	10	5	1	2	0	1	1	1	1	5	1	3	1	3	3	3	1	3	2	2			TCGA-G9-6348-01A-11D-1786-08	TCGA-G9-6348-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	663c2f26-4e49-4752-bde5-fb5e9229daf9	e6ab50da-966a-4429-95c9-36e22d269e25	g.chr2:51255226G>A	ENST00000406316.2	-	2	1662	c.186C>T	c.(184-186)agC>agT	p.S62S	NRXN1_ENST00000401669.2_Silent_p.S62S|NRXN1_ENST00000405472.3_Silent_p.S62S|NRXN1_ENST00000404971.1_Silent_p.S62S|NRXN1_ENST00000402717.3_Silent_p.S62S|NRXN1_ENST00000405581.1_Silent_p.S62S|NRXN1_ENST00000406859.3_Silent_p.S62S	NM_004801.4	NP_004792.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	62	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				adult behavior (GO:0030534)|axon guidance (GO:0007411)|calcium-dependent cell-cell adhesion (GO:0016339)|cerebellar granule cell differentiation (GO:0021707)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|gamma-aminobutyric acid receptor clustering (GO:0097112)|gephyrin clustering (GO:0097116)|guanylate kinase-associated protein clustering (GO:0097117)|heterophilic cell-cell adhesion (GO:0007157)|learning (GO:0007612)|N-methyl-D-aspartate receptor clustering (GO:0097114)|negative regulation of filopodium assembly (GO:0051490)|neuroligin clustering (GO:0097118)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|neuron maturation (GO:0042551)|neurotransmitter secretion (GO:0007269)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|receptor localization to synapse (GO:0097120)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic vesicle clustering (GO:0097091)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	axonal growth cone (GO:0044295)|cell junction (GO:0030054)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	acetylcholine receptor binding (GO:0033130)|calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|cell adhesion molecule binding (GO:0050839)|neuroligin family protein binding (GO:0097109)|receptor activity (GO:0004872)	p.S62S(3)		breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			GGCCGCGGGCGCTGCGAGTCT	0.662																																						ENST00000404971.1																			3	Substitution - coding silent(3)	p.S62S(3)	prostate(3)	breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58						c.(184-186)agC>agT		neurexin 1							10	14	13					2																	51255226		1986	4148	6134	SO:0001819	synonymous_variant	9378				adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity	g.chr2:51255226G>A	AB011150	CCDS1845.1, CCDS46282.1, CCDS54360.1	2p16.3	2008-05-15			ENSG00000179915	ENSG00000179915			8008	protein-coding gene	gene with protein product		600565					Standard	NM_001135659		Approved	KIAA0578, Hs.22998	uc021vhj.1	P58400	OTTHUMG00000129263	ENST00000406316.2:c.186C>T	2.37:g.51255226G>A						NRXN1_ENST00000401669.2_Silent_p.S62S|NRXN1_ENST00000405581.1_Silent_p.S62S|NRXN1_ENST00000402717.3_Silent_p.S62S|NRXN1_ENST00000406859.3_Silent_p.S62S|NRXN1_ENST00000406316.2_Silent_p.S62S|NRXN1_ENST00000405472.3_Silent_p.S62S	p.S62S	NM_001135659.1	NP_001129131.1	Q9ULB1	NRX1A_HUMAN	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)		2	1525	-		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	62			Laminin G-like 1.		A7KRL9|O60323|Q53TJ9|Q53TQ1|Q9C079|Q9C080|Q9C081|Q9H3M2|Q9UDM6	Silent	SNP	ENST00000406316.2	37	c.186C>T	CCDS54360.1																																																																																				0.662	NRXN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000325291.2			4	10	0	0	0	0.014758	0	4	10					A	51255226	G	A	51255226	2	1	157	1	0	0	0	0	0	0	0	1	10665	1078	38	1		1	NRXN1	2	51255226	Silent	SNP	G	TCGA-G9-6348-01A-11D-1786-08		51255226	191944147	8	7612											
GALNT13	114805	broad.mit.edu	37	chr2	155099377	155099377	+	Frame_Shift_Del	DEL	A	A	-																															gcacactgtgaatgcacgttAggatggctggagcctttgct																										TCGA-G9-6348-01A-11D-1786-08	TCGA-G9-6348-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	663c2f26-4e49-4752-bde5-fb5e9229daf9	e6ab50da-966a-4429-95c9-36e22d269e25	g.chr2:155099377delA	ENST00000392825.3	+	6	1212	c.645delA	c.(643-645)ttafs	p.L215fs	GALNT13_ENST00000409237.1_Frame_Shift_Del_p.L215fs	NM_052917.2	NP_443149.2	Q8IUC8	GLT13_HUMAN	polypeptide N-acetylgalactosaminyltransferase 13	215	Catalytic subdomain A.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|lung(37)|ovary(3)|pancreas(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	65						AATGCACGTTAGGATGGCTGG	0.473																																						ENST00000392825.3																			0				NS(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|lung(37)|ovary(3)|pancreas(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	65						c.(643-645)ttfs		UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13 (GalNAc-T13)							82	77	78					2																	155099377		2203	4300	6503	SO:0001589	frameshift_variant	114805					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr2:155099377delA	AB067505	CCDS2199.1	2q24.1	2014-03-13	2014-03-13		ENSG00000144278	ENSG00000144278	2.4.1.41	"Glycosyltransferase family 2 domain containing"	23242	protein-coding gene	gene with protein product	"UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13", "polypeptide GalNAc transferase 13"	608369	"UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13 (GalNAc-T13)"			11572484, 12407114	Standard	XM_005246267		Approved	KIAA1918, GalNAc-T13	uc002tyr.4	Q8IUC8	OTTHUMG00000131917	ENST00000392825.3:c.645delA	2.37:g.155099377delA	ENSP00000376570:p.Leu215fs					GALNT13_ENST00000409237.1_Frame_Shift_Del_p.L215fs	p.L215fs	NM_052917.2	NP_443149.2	Q8IUC8	GLT13_HUMAN			6	1212	+			215			Catalytic subdomain A.		Q08ER7|Q68VI8|Q6ZWG1|Q96PX0|Q9UIE5	Frame_Shift_Del	DEL	ENST00000392825.3	37	c.645delA	CCDS2199.1																																																																																				0.473	GALNT13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254870.2	NM_052917		8	51						8	51	---	---	---	---	-	155099377	A	-	155099377	7	5	157	1	0	1	0	1	0	0	0	0	6211	417	15	0	659	0	GALNT13	2	155099377	Frame_Shift_Del	DEL	A	TCGA-G9-6348-01A-11D-1786-08	103844151	155099377	88099996	9	7613											
SCN9A	6335	broad.mit.edu	37	chr2	167142945	167142945	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctgtcctctgattctgatttCgacaatttctcagcatctcc	7	16	5	13	1	4	2	1	2	4	0	8	3	5	2	2	0	1	1	2	0	1	3			TCGA-G9-6348-01A-11D-1786-08	TCGA-G9-6348-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	663c2f26-4e49-4752-bde5-fb5e9229daf9	e6ab50da-966a-4429-95c9-36e22d269e25	g.chr2:167142945C>T	ENST00000409435.1	-	10	1502	c.1503G>A	c.(1501-1503)tcG>tcA	p.S501S	SCN9A_ENST00000409672.1_Silent_p.S501S|SCN9A_ENST00000375387.4_Silent_p.S502S|AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000303354.6_Silent_p.S502S			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	501				S -> P (in Ref. 4; AAT85835). {ECO:0000305}.	behavioral response to pain (GO:0048266)|inflammatory response (GO:0006954)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|post-embryonic development (GO:0009791)|response to toxic substance (GO:0009636)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	sodium ion binding (GO:0031402)|voltage-gated sodium channel activity (GO:0005248)	p.S501S(1)		NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lacosamide(DB06218)|Lidocaine(DB00281)|Ranolazine(DB00243)|Rufinamide(DB06201)|Valproic Acid(DB00313)|Zonisamide(DB00909)	ATTCTGATTTCGACAATTTCT	0.428																																						ENST00000303354.6																			1	Substitution - coding silent(1)	p.S501S(1)	prostate(1)	NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108						c.(1504-1506)tcG>tcA		sodium channel, voltage-gated, type IX, alpha subunit	Lamotrigine(DB00555)|Lidocaine(DB00281)						170	161	164					2																	167142945		1910	4120	6030	SO:0001819	synonymous_variant	6335					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:167142945C>T	X82835	CCDS46441.1	2q24	2014-09-17	2007-01-23		ENSG00000169432	ENSG00000169432		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10597	protein-coding gene	gene with protein product		603415	"sodium channel, voltage-gated, type IX, alpha polypeptide"			7720699, 10198179, 16382098	Standard	NM_002977		Approved	Nav1.7, PN1, NE-NA, NENA, ETHA	uc010fpl.3	Q15858	OTTHUMG00000154044	ENST00000409435.1:c.1503G>A	2.37:g.167142945C>T						SCN9A_ENST00000409435.1_Silent_p.S501S|AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000409672.1_Silent_p.S501S|SCN9A_ENST00000375387.4_Silent_p.S502S	p.S502S			Q15858	SCN9A_HUMAN			11	1846	-			501					A1BUH5|Q6B4R9|Q6B4S0|Q6B4S1|Q70HX1|Q70HX2|Q8WTU1|Q8WWN4	Silent	SNP	ENST00000409435.1	37	c.1506G>A	CCDS46441.1																																																																																				0.428	SCN9A-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333639.1	NM_002977		7	194	0	0	0	0.038147	0	7	194					T	167142945	C	T	167142945	2	4	157	1	0	0	0	0	0	0	0	1	13925	871	31	2		2	SCN9A	2	167142945	Silent	SNP	C	TCGA-G9-6348-01A-11D-1786-08	12043568	167142945	76056428	10	7614											
SCN7A	6332	broad.mit.edu	37	chr2	167262810	167262810	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcagaccatttactgttgaaAattgcatcaagcatcccatc	13	12	5	11	0	2	2	2	1	0	1	4	2	3	2	2	0	3	3	2	0	4	4			TCGA-G9-6348-01A-11D-1786-08	TCGA-G9-6348-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	663c2f26-4e49-4752-bde5-fb5e9229daf9	e6ab50da-966a-4429-95c9-36e22d269e25	g.chr2:167262810A>T	ENST00000409855.1	-	25	4455	c.4329T>A	c.(4327-4329)atT>atA	p.I1443I		NM_002976.3	NP_002967.2	Q01118	SCN7A_HUMAN	sodium channel, voltage-gated, type VII, alpha subunit	1443					membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|neuronal action potential (GO:0019228)|sodium ion homeostasis (GO:0055078)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	glial cell projection (GO:0097386)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)	p.I1443I(3)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44					Valproic Acid(DB00313)	TACTGTTGAAAATTGCATCAA	0.383																																						ENST00000409855.1																			3	Substitution - coding silent(3)	p.I1443I(3)	prostate(3)	breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44						c.(4327-4329)atT>atA		sodium channel, voltage-gated, type VII, alpha subunit							142	135	138					2																	167262810		1875	4134	6009	SO:0001819	synonymous_variant	6332				muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:167262810A>T	M91556	CCDS46442.1	2q21-q23	2012-03-05	2012-02-28	2002-06-14	ENSG00000136546	ENSG00000136546		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10594	protein-coding gene	gene with protein product		182392	"sodium channel, voltage-gated, type VI, alpha", "sodium channel, voltage-gated, type VII, alpha"	SCN6A		10198179	Standard	NM_002976		Approved	Nav2.1, Nav2.2, NaG	uc002udu.2	Q01118	OTTHUMG00000154078	ENST00000409855.1:c.4329T>A	2.37:g.167262810A>T							p.I1443I	NM_002976.3	NP_002967.2	Q01118	SCN7A_HUMAN			25	4455	-			1443						Silent	SNP	ENST00000409855.1	37	c.4329T>A	CCDS46442.1																																																																																				0.383	SCN7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333745.1			32	132	0	0	0	0.037714	0	32	132					T	167262810	A	T	167262810	2	4	157	1	0	0	0	0	0	0	0	1	13923	10	1	5		5	SCN7A	2	167262810	Silent	SNP	A	TCGA-G9-6348-01A-11D-1786-08	119865	167262810	75936563	11	7615											
DNAH7	56171	broad.mit.edu	37	chr2	196825327	196825327	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggcctcccagtgcctggggcGcaaaccaggattacagatca	10	6	12	13	1	1	1	1	0	0	1	2	2	2	2	4	4	3	1	4	4	2	1			TCGA-G9-6348-01A-11D-1786-08	TCGA-G9-6348-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	663c2f26-4e49-4752-bde5-fb5e9229daf9	e6ab50da-966a-4429-95c9-36e22d269e25	g.chr2:196825327G>A	ENST00000312428.6	-	18	2648	c.2548C>T	c.(2548-2550)Cgc>Tgc	p.R850C		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	850	Stem. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)	axonemal dynein complex (GO:0005858)|cilium (GO:0005929)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|microtubule motor activity (GO:0003777)	p.R850C(1)		NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						TGCCTGGGGCGCAAACCAGGA	0.453																																						ENST00000312428.6																			1	Substitution - Missense(1)	p.R850C(1)	prostate(1)	NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						c.(2548-2550)Cgc>Tgc		dynein, axonemal, heavy chain 7							124	126	125					2																	196825327		1935	4131	6066	SO:0001583	missense	56171				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr2:196825327G>A	AF327442	CCDS42794.1	2q33.1	2013-01-10	2006-09-04		ENSG00000118997	ENSG00000118997		"Axonemal dyneins", "EF-hand domain containing"	18661	protein-coding gene	gene with protein product		610061	"dynein, axonemal, heavy polypeptide 7"			9373155, 11877439	Standard	NM_018897		Approved	KIAA0944	uc002utj.4	Q8WXX0	OTTHUMG00000154438	ENST00000312428.6:c.2548C>T	2.37:g.196825327G>A	ENSP00000311273:p.Arg850Cys						p.R850C	NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN			18	2648	-			850			Stem (By similarity).		B8ZZX8|O00433|O95492|Q4G152|Q53QX7|Q53S64|Q53T02|Q68CY5|Q8N1Z2|Q9UMS3|Q9Y2F3	Missense_Mutation	SNP	ENST00000312428.6	37	c.2548C>T	CCDS42794.1	.	.	.	.	.	.	.	.	.	.	G	15.84	2.952760	0.53293	.	.	ENSG00000118997	ENST00000312428	T	0.63417	-0.04	5.74	5.74	0.90152	Dynein heavy chain, domain-2 (1);	0.125121	0.53938	D	0.000044	D	0.84392	0.5462	M	0.93375	3.41	0.80722	D	1	D	0.76494	0.999	D	0.64877	0.93	D	0.87323	0.2319	10	0.59425	D	0.04	.	19.9196	0.97082	0.0:0.0:1.0:0.0	.	850	Q8WXX0	DYH7_HUMAN	C	850	ENSP00000311273:R850C	ENSP00000311273:R850C	R	-	1	0	DNAH7	196533572	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	4.626000	0.61269	2.708000	0.92522	0.650000	0.86243	CGC		0.453	DNAH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335202.3	NM_018897		4	116	0	0	0	0.014758	0	4	116					A	196825327	G	A	196825327	3	1	157	1	0	0	0	0	1	0	0	0	4606	1087	38	1	9718	1	DNAH7	2	196825327	Missense_Mutation	SNP	G	TCGA-G9-6348-01A-11D-1786-08	29562517	196825327	46374046	12	7616											
CLASP2	23122	broad.mit.edu	37	chr3	33602330	33602330	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caagggctttctgaacttttGcctgaacagatccaagcaaa	13	10	8	10	0	1	3	0	2	1	1	2	3	2	3	2	1	4	2	2	1	5	3			TCGA-G9-6348-01A-11D-1786-08	TCGA-G9-6348-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	663c2f26-4e49-4752-bde5-fb5e9229daf9	e6ab50da-966a-4429-95c9-36e22d269e25	g.chr3:33602330G>C	ENST00000468888.2	-	28	2970	c.2924C>G	c.(2923-2925)gCa>gGa	p.A975G	CLASP2_ENST00000480013.1_Missense_Mutation_p.A754G|CLASP2_ENST00000359576.5_Missense_Mutation_p.A966G|CLASP2_ENST00000307312.7_Missense_Mutation_p.A456G|CLASP2_ENST00000461133.3_Missense_Mutation_p.A734G|CLASP2_ENST00000399362.4_Missense_Mutation_p.A974G|CLASP2_ENST00000539981.1_Missense_Mutation_p.A744G			O75122	CLAP2_HUMAN	cytoplasmic linker associated protein 2	755	Interaction with RSN and localization to the Golgi and kinetochores.				axon guidance (GO:0007411)|establishment or maintenance of cell polarity (GO:0007163)|fucosylation (GO:0036065)|microtubule anchoring (GO:0034453)|microtubule nucleation (GO:0007020)|microtubule organizing center organization (GO:0031023)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of microtubule depolymerization (GO:0007026)|regulation of microtubule polymerization or depolymerization (GO:0031110)|regulation of microtubule-based process (GO:0032886)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|kinetochore (GO:0000776)|kinetochore microtubule (GO:0005828)|membrane (GO:0016020)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|trans-Golgi network (GO:0005802)	galactoside 2-alpha-L-fucosyltransferase activity (GO:0008107)|microtubule plus-end binding (GO:0051010)	p.A967G(1)		breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	48						CTGAACTTTTGCCTGAACAGA	0.338																																						ENST00000399362.4																			1	Substitution - Missense(1)	p.A967G(1)	prostate(1)	breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	48						c.(2920-2922)gCa>gGa		cytoplasmic linker associated protein 2							198	195	196					3																	33602330		1825	4097	5922	SO:0001583	missense	23122							g.chr3:33602330G>C	AB014527		3p24.3	2013-01-18			ENSG00000163539	ENSG00000163539			17078	protein-coding gene	gene with protein product		605853				9734811, 10899121	Standard	NM_015097		Approved	KIAA0627	uc021wvc.1	O75122	OTTHUMG00000156489	ENST00000468888.2:c.2924C>G	3.37:g.33602330G>C	ENSP00000419974:p.Ala975Gly					CLASP2_ENST00000307312.7_Missense_Mutation_p.A456G|CLASP2_ENST00000468888.2_Missense_Mutation_p.A975G|CLASP2_ENST00000480013.1_Missense_Mutation_p.A754G|CLASP2_ENST00000539981.1_Missense_Mutation_p.A744G|CLASP2_ENST00000359576.5_Missense_Mutation_p.A966G|CLASP2_ENST00000461133.3_Missense_Mutation_p.A734G	p.A974G	NM_015097.2	NP_055912.2	B2RTR1	B2RTR1_HUMAN			28	3274	-			976					Q7L8F6|Q8N6R6|Q9BQT3|Q9BQT4|Q9H7A3|Q9NSZ2	Missense_Mutation	SNP	ENST00000468888.2	37	c.2921C>G		.	.	.	.	.	.	.	.	.	.	G	25.1	4.602670	0.87157	.	.	ENSG00000163539	ENST00000468888;ENST00000399362;ENST00000359576;ENST00000307312;ENST00000539981;ENST00000480013;ENST00000461133	T;T;T;T;T;T;T	0.67698	-0.28;-0.28;-0.28;-0.28;-0.28;-0.28;-0.28	5.62	5.62	0.85841	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.75199	0.3817	L	0.32530	0.975	0.80722	D	1	D;D;P	0.76494	0.999;0.998;0.803	D;D;P	0.80764	0.993;0.994;0.573	T	0.73014	-0.4116	10	0.37606	T	0.19	-22.908	19.6764	0.95936	0.0:0.0:1.0:0.0	.	755;966;974	O75122;F5H604;E7ERI8	CLAP2_HUMAN;.;.	G	975;974;966;456;744;754;734	ENSP00000419974:A975G;ENSP00000382297:A974G;ENSP00000352581:A966G;ENSP00000304743:A456G;ENSP00000439039:A744G;ENSP00000417518:A754G;ENSP00000419305:A734G	ENSP00000304743:A456G	A	-	2	0	CLASP2	33577334	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.496000	0.97967	2.660000	0.90430	0.655000	0.94253	GCA		0.338	CLASP2-001	NOVEL	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000344320.4	NM_001207044		31	177	0	0	0	0.054565	0	31	177					C	33602330	G	C	33602330	3	2	157	1	0	0	0	0	1	0	0	0	3455	1319	46	5	1668	5	CLASP2	3	33602330	Missense_Mutation	SNP	G	TCGA-G9-6348-01A-11D-1786-08		33602330	164420100	13	7617											
EPHA3	2042	broad.mit.edu	37	chr3	89391103	89391103	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ccctcgacagtttggactcaCcaacaccacggtgacagtga	11	7	9	14	2	1	2	1	2	0	0	2	4	1	3	3	2	1	1	3	2	1	1			TCGA-G9-6348-01A-11D-1786-08	TCGA-G9-6348-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	663c2f26-4e49-4752-bde5-fb5e9229daf9	e6ab50da-966a-4429-95c9-36e22d269e25	g.chr3:89391103C>A	ENST00000336596.2	+	5	1394	c.1169C>A	c.(1168-1170)aCc>aAc	p.T390N	EPHA3_ENST00000494014.1_Missense_Mutation_p.T390N|EPHA3_ENST00000452448.2_Missense_Mutation_p.T390N	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN	EPH receptor A3	390	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|cell migration (GO:0016477)|cellular response to retinoic acid (GO:0071300)|ephrin receptor signaling pathway (GO:0048013)|fasciculation of motor neuron axon (GO:0097156)|fasciculation of sensory neuron axon (GO:0097155)|positive regulation of neuron projection development (GO:0010976)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of epithelial to mesenchymal transition (GO:0010717)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule cytoskeleton organization (GO:0070507)|regulation of Rho GTPase activity (GO:0032319)	early endosome (GO:0005769)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|GPI-linked ephrin receptor activity (GO:0005004)	p.T390N(2)		NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		TTTGGACTCACCAACACCACG	0.478										TSP Lung(6;0.00050)																												ENST00000336596.2																			2	Substitution - Missense(2)	p.T390N(2)	prostate(2)	NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139						c.(1168-1170)aCc>aAc		EPH receptor A3							107	93	98					3																	89391103		2203	4300	6503	SO:0001583	missense	2042					extracellular region|integral to plasma membrane	ATP binding	g.chr3:89391103C>A	M83941	CCDS2922.1, CCDS46875.1	3p11.2	2013-02-11	2004-10-28		ENSG00000044524	ENSG00000044524	2.7.10.1	"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3387	protein-coding gene	gene with protein product		179611	"EphA3"	ETK, ETK1, TYRO4		1737782, 1311845	Standard	NM_005233		Approved	HEK, HEK4	uc003dqy.3	P29320	OTTHUMG00000159040	ENST00000336596.2:c.1169C>A	3.37:g.89391103C>A	ENSP00000337451:p.Thr390Asn	TSP Lung(6;0.00050)				EPHA3_ENST00000452448.2_Missense_Mutation_p.T390N|EPHA3_ENST00000494014.1_Missense_Mutation_p.T390N	p.T390N	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)	5	1394	+	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)	390			Fibronectin type-III 1.		Q9H2V3|Q9H2V4	Missense_Mutation	SNP	ENST00000336596.2	37	c.1169C>A	CCDS2922.1	.	.	.	.	.	.	.	.	.	.	C	12.83	2.054175	0.36277	.	.	ENSG00000044524	ENST00000336596;ENST00000452448;ENST00000494014	T;T;T	0.60424	0.19;0.19;0.19	5.66	3.76	0.43208	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.457203	0.26658	N	0.023164	T	0.52693	0.1750	L	0.49571	1.57	0.40098	D	0.976334	B;B	0.18610	0.029;0.006	B;B	0.21917	0.037;0.017	T	0.51803	-0.8659	9	.	.	.	.	16.8533	0.86000	0.0:0.76:0.24:0.0	.	390;390	P29320;P29320-2	EPHA3_HUMAN;.	N	390	ENSP00000337451:T390N;ENSP00000399926:T390N;ENSP00000419190:T390N	.	T	+	2	0	EPHA3	89473793	0.994000	0.37717	1.000000	0.80357	0.997000	0.91878	1.342000	0.33919	1.518000	0.48934	0.655000	0.94253	ACC		0.478	EPHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352995.1	NM_005233		4	71	1	0	0.00909568	0.009096	0.0102507	4	71					A	89391103	C	A	89391103	3	1	157	1	0	0	0	0	1	0	0	0	5168	507	18	5	1187	5	EPHA3	3	89391103	Missense_Mutation	SNP	C	TCGA-G9-6348-01A-11D-1786-08	55788773	89391103	108631327	14	7618											
SORCS2	57537	broad.mit.edu	37	chr4	7728622	7728622	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaggactccagggtcctccGtgtgctgggtaagtacttcc	6	10	13	12	1	0	0	0	0	0	0	4	1	4	1	4	3	2	4	4	3	2	3	rs370590557		TCGA-G9-6348-01A-11D-1786-08	TCGA-G9-6348-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	663c2f26-4e49-4752-bde5-fb5e9229daf9	e6ab50da-966a-4429-95c9-36e22d269e25	g.chr4:7728622G>A	ENST00000507866.2	+	21	2970	c.2861G>A	c.(2860-2862)cGt>cAt	p.R954H	SORCS2_ENST00000329016.9_Missense_Mutation_p.R782H	NM_020777.2	NP_065828.2	Q96PQ0	SORC2_HUMAN	sortilin-related VPS10 domain containing receptor 2	954					neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	neuropeptide receptor activity (GO:0008188)	p.R804H(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(8)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	42						AGGGTCCTCCGTGTGCTGGGT	0.617																																						ENST00000507866.2																			1	Substitution - Missense(1)	p.R804H(1)	prostate(1)	autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(8)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	42						c.(2860-2862)cGt>cAt		sortilin-related VPS10 domain containing receptor 2		G	HIS/ARG	2,4232		0,2,2115	58	73	68		2861	2.5	1	4		68	1,8411		0,1,4205	no	missense	SORCS2	NM_020777.2	29	0,3,6320	AA,AG,GG		0.0119,0.0472,0.0237	benign	954/1160	7728622	3,12643	2117	4206	6323	SO:0001583	missense	57537					integral to membrane	neuropeptide receptor activity	g.chr4:7728622G>A	AB037750	CCDS47008.1	4p16.1	2008-02-05			ENSG00000184985	ENSG00000184985			16698	protein-coding gene	gene with protein product		606284				11499680	Standard	NM_020777		Approved	KIAA1329	uc003gkb.4	Q96PQ0	OTTHUMG00000159981	ENST00000507866.2:c.2861G>A	4.37:g.7728622G>A	ENSP00000422185:p.Arg954His					SORCS2_ENST00000329016.9_Missense_Mutation_p.R782H	p.R954H	NM_020777.2	NP_065828.2	Q96PQ0	SORC2_HUMAN			21	2970	+			954					Q9P2L7	Missense_Mutation	SNP	ENST00000507866.2	37	c.2861G>A	CCDS47008.1	.	.	.	.	.	.	.	.	.	.	G	2.316	-0.356773	0.05138	4.72E-4	1.19E-4	ENSG00000184985	ENST00000507866;ENST00000329016	T;T	0.14516	2.5;2.52	4.25	2.51	0.30379	.	.	.	.	.	T	0.06005	0.0156	N	0.04508	-0.205	0.23602	N	0.997313	B;B	0.16603	0.006;0.018	B;B	0.06405	0.002;0.002	T	0.38134	-0.9675	9	0.36615	T	0.2	.	6.5334	0.22339	0.455:0.0:0.545:0.0	.	782;954	B5MED8;Q96PQ0	.;SORC2_HUMAN	H	954;782	ENSP00000422185:R954H;ENSP00000329124:R782H	ENSP00000329124:R782H	R	+	2	0	SORCS2	7779522	0.891000	0.30450	0.971000	0.41717	0.080000	0.17528	1.685000	0.37659	0.379000	0.24794	-0.396000	0.06452	CGT		0.617	SORCS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358685.4	NM_020777		4	47	0	0	0	0.009096	0	4	47					A	7728622	G	A	7728622	3	1	157	1	0	0	0	0	1	0	0	0	14931	1145	40	1	2943	1	SORCS2	4	7728622	Missense_Mutation	SNP	G	TCGA-G9-6348-01A-11D-1786-08		7728622	183425654	15	7619											
TMPRSS11D	9407	broad.mit.edu	37	chr4	68719842	68719845	+	Frame_Shift_Del	DEL	ACTG	ACTG	-																															ctgtgtagctggtgaatttaActgactattatattcaacat																										TCGA-G9-6348-01A-11D-1786-08	TCGA-G9-6348-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	663c2f26-4e49-4752-bde5-fb5e9229daf9	e6ab50da-966a-4429-95c9-36e22d269e25	g.chr4:68719842_68719845delACTG	ENST00000283916.6	-	3	288_291	c.190_193delCAGT	c.(190-195)cagttafs	p.QL64fs	TMPRSS11D_ENST00000545541.1_5'UTR|TMPRSS11D_ENST00000509584.1_5'UTR|UBA6-AS1_ENST00000500538.2_RNA	NM_004262.2	NP_004253.1	O60235	TM11D_HUMAN	transmembrane protease, serine 11D	64	SEA. {ECO:0000255|PROSITE- ProRule:PRU00188}.				proteolysis (GO:0006508)|respiratory gaseous exchange (GO:0007585)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)	p.Q64*(1)		cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23						GGTGAATTTAACTGACTATTATAT	0.304																																						ENST00000283916.6																			1	Substitution - Nonsense(1)	p.Q64*(1)	kidney(1)	cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23						c.(190-195)tafs		transmembrane protease, serine 11D																																				SO:0001589	frameshift_variant	9407				proteolysis|respiratory gaseous exchange	extracellular region|integral to plasma membrane	serine-type endopeptidase activity	g.chr4:68719842_68719845delACTG	AB002134	CCDS3518.1	4q13.2	2010-04-13			ENSG00000153802	ENSG00000153802		"Serine peptidases / Transmembrane"	24059	protein-coding gene	gene with protein product	"airway trypsin like protease"	605369				9565616, 9070615	Standard	XM_005265710		Approved		uc003hdq.3	O60235	OTTHUMG00000129300	ENST00000283916.6:c.190_193delCAGT	4.37:g.68719842_68719845delACTG	ENSP00000283916:p.Gln64fs					RP11-453E17.1_ENST00000500538.2_RNA|TMPRSS11D_ENST00000545541.1_5'UTR|TMPRSS11D_ENST00000509584.1_5'UTR	p.QL64fs	NM_004262.2	NP_004253.1	O60235	TM11D_HUMAN			3	288_291	-			64			SEA.		Q08AF6	Frame_Shift_Del	DEL	ENST00000283916.6	37	c.190_193delCAGT	CCDS3518.1																																																																																				0.304	TMPRSS11D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251430.3	NM_004262		7	119						7	119	---	---	---	---	-	68719845	ACTG	-	68719842	7	5	157	1	0	1	0	1	0	0	0	0	16238	40	2	0	1095	0	TMPRSS11D	4	68719842	Frame_Shift_Del	DEL	ACTG	TCGA-G9-6348-01A-11D-1786-08	60991220	68719842	122434434	16	7620											
TLL1	7092	broad.mit.edu	37	chr4	166935656	166935656	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	acgtcctgcaattggtcagcGaacccgtctaagcaaaggag	12	7	11	11	3	2	0	1	0	1	0	3	2	3	1	2	2	4	2	2	2	4	2			TCGA-G9-6348-01A-11D-1786-08	TCGA-G9-6348-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	663c2f26-4e49-4752-bde5-fb5e9229daf9	e6ab50da-966a-4429-95c9-36e22d269e25	g.chr4:166935656G>A	ENST00000061240.2	+	8	1633	c.986G>A	c.(985-987)cGa>cAa	p.R329Q	TLL1_ENST00000513213.1_Missense_Mutation_p.R329Q|TLL1_ENST00000507499.1_Missense_Mutation_p.R329Q	NM_012464.4	NP_036596.3	O43897	TLL1_HUMAN	tolloid-like 1	329	Metalloprotease. {ECO:0000250}.				cell differentiation (GO:0030154)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.R329Q(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)		GBM - Glioblastoma multiforme(119;0.103)		ATTGGTCAGCGAACCCGTCTA	0.458																																						ENST00000061240.2																			1	Substitution - Missense(1)	p.R329Q(1)	prostate(1)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	77						c.(985-987)cGa>cAa		tolloid-like 1							247	221	230					4																	166935656		2203	4299	6502	SO:0001583	missense	7092				cell differentiation|proteolysis|skeletal system development	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding	g.chr4:166935656G>A	AF282732	CCDS3811.1, CCDS56342.1	4q32-q33	2008-07-29			ENSG00000038295	ENSG00000038295			11843	protein-coding gene	gene with protein product		606742				10516436	Standard	NM_012464		Approved		uc003irh.2	O43897	OTTHUMG00000161112	ENST00000061240.2:c.986G>A	4.37:g.166935656G>A	ENSP00000061240:p.Arg329Gln					TLL1_ENST00000513213.1_Missense_Mutation_p.R329Q|TLL1_ENST00000507499.1_Missense_Mutation_p.R329Q	p.R329Q	NM_012464.4	NP_036596.3	O43897	TLL1_HUMAN		GBM - Glioblastoma multiforme(119;0.103)	8	1633	+	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)	329			Metalloprotease (By similarity).		B2RMU2|Q96AN3|Q9NQS4	Missense_Mutation	SNP	ENST00000061240.2	37	c.986G>A	CCDS3811.1	.	.	.	.	.	.	.	.	.	.	G	18.20	3.571383	0.65765	.	.	ENSG00000038295	ENST00000061240;ENST00000507499;ENST00000513213	T;T;T	0.68025	-0.3;-0.3;-0.3	5.17	4.33	0.51752	Peptidase M12A, astacin (1);Metallopeptidase, catalytic domain (1);	0.000000	0.64402	U	0.000001	T	0.81564	0.4849	H	0.95260	3.645	0.80722	D	1	D;D	0.71674	0.998;0.978	P;B	0.51550	0.673;0.393	D	0.86520	0.1815	10	0.56958	D	0.05	.	13.729	0.62776	0.0751:0.0:0.9249:0.0	.	329;329	E9PD25;O43897	.;TLL1_HUMAN	Q	329	ENSP00000061240:R329Q;ENSP00000426082:R329Q;ENSP00000422937:R329Q	ENSP00000061240:R329Q	R	+	2	0	TLL1	167155106	1.000000	0.71417	0.787000	0.31911	0.044000	0.14063	9.753000	0.98904	1.165000	0.42670	0.557000	0.71058	CGA		0.458	TLL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363821.1			11	247	0	0	0	0.069234	0	11	247					A	166935656	G	A	166935656	3	1	157	1	0	0	0	0	1	0	0	0	15942	1058	37	2	1016	2	TLL1	4	166935656	Missense_Mutation	SNP	G	TCGA-G9-6348-01A-11D-1786-08	98215814	166935656	24218620	17	7621											
ADAM29	11086	broad.mit.edu	37	chr4	175897858	175897858	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acagtacacacaaaggacatCtttaatgtgaagcgctgtgg	14	9	10	8	1	1	1	0	1	1	0	1	2	1	2	0	2	2	2	0	2	4	3			TCGA-G9-6348-01A-11D-1786-08	TCGA-G9-6348-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	663c2f26-4e49-4752-bde5-fb5e9229daf9	e6ab50da-966a-4429-95c9-36e22d269e25	g.chr4:175897858C>T	ENST00000359240.3	+	5	1852	c.1182C>T	c.(1180-1182)atC>atT	p.I394I	ADAM29_ENST00000445694.1_Silent_p.I394I|ADAM29_ENST00000514159.1_Silent_p.I394I|RP13-577H12.2_ENST00000507525.1_RNA|ADAM29_ENST00000404450.4_Silent_p.I394I	NM_001278125.1|NM_014269.4	NP_001265054.1|NP_055084.3	Q9UKF5	ADA29_HUMAN	ADAM metallopeptidase domain 29	394					spermatogenesis (GO:0007283)	integral component of plasma membrane (GO:0005887)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.I394I(2)		NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)		CAAAGGACATCTTTAATGTGA	0.393																																					Ovarian(140;1727 1835 21805 25838 41440)	ENST00000359240.3																			2	Substitution - coding silent(2)	p.I394I(2)	prostate(2)	NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93						c.(1180-1182)atC>atT		ADAM metallopeptidase domain 29							214	209	211					4																	175897858		2203	4300	6503	SO:0001819	synonymous_variant	11086				proteolysis|spermatogenesis	integral to plasma membrane	metalloendopeptidase activity|zinc ion binding	g.chr4:175897858C>T	AF171929	CCDS3823.1	4q34.1	2012-05-16	2005-08-18		ENSG00000168594	ENSG00000168594		"ADAM metallopeptidase domain containing"	207	protein-coding gene	gene with protein product	"cancer/testis antigen 73"	604778	"a disintegrin and metalloproteinase domain 29"			10644455	Standard	NM_014269		Approved	svph1, CT73	uc031shw.1	Q9UKF5	OTTHUMG00000160764	ENST00000359240.3:c.1182C>T	4.37:g.175897858C>T						ADAM29_ENST00000445694.1_Silent_p.I394I|ADAM29_ENST00000404450.4_Silent_p.I394I|ADAM29_ENST00000514159.1_Silent_p.I394I	p.I394I	NM_001278125.1|NM_014269.4	NP_001265054.1|NP_055084.3	Q9UKF5	ADA29_HUMAN		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)	5	1852	+		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)	394					Q4W5F3|Q9UHP1|Q9UKF3|Q9UKF4	Silent	SNP	ENST00000359240.3	37	c.1182C>T	CCDS3823.1																																																																																				0.393	ADAM29-201	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding				28	129	0	0	0	0.030593	0	28	129					T	175897858	C	T	175897858	2	4	157	1	0	0	0	0	0	0	0	1	247	903	32	3		3	ADAM29	4	175897858	Silent	SNP	C	TCGA-G9-6348-01A-11D-1786-08	8962202	175897858	15256418	18	7622											
PPP2R2B	5521	broad.mit.edu	37	chr5	146017843	146017843	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctgtcacacagggcagatGcccgcatgtcacacagccgg	9	5	12	15	2	2	1	2	0	0	1	2	1	2	1	3	2	2	2	3	2	0	0			TCGA-G9-6348-01A-11D-1786-08	TCGA-G9-6348-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	663c2f26-4e49-4752-bde5-fb5e9229daf9	e6ab50da-966a-4429-95c9-36e22d269e25	g.chr5:146017843G>A	ENST00000394413.3	-	6	1331	c.761C>T	c.(760-762)gCa>gTa	p.A254V	PPP2R2B_ENST00000453001.1_Missense_Mutation_p.A254V|PPP2R2B_ENST00000394411.4_Missense_Mutation_p.A254V|PPP2R2B_ENST00000336640.6_Missense_Mutation_p.A257V|PPP2R2B_ENST00000530902.1_5'UTR|PPP2R2B_ENST00000394410.2_Missense_Mutation_p.A243V|PPP2R2B_ENST00000356826.3_Missense_Mutation_p.A254V|PPP2R2B_ENST00000394409.3_Missense_Mutation_p.A312V|PPP2R2B_ENST00000504198.1_Missense_Mutation_p.A260V|PPP2R2B_ENST00000394414.1_Missense_Mutation_p.A320V|PPP2R2B_ENST00000508545.2_Missense_Mutation_p.A243V			Q00005	2ABB_HUMAN	protein phosphatase 2, regulatory subunit B, beta	254					apoptotic process (GO:0006915)|regulation of catalytic activity (GO:0050790)|signal transduction (GO:0007165)	cytoskeleton (GO:0005856)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|protein phosphatase type 2A complex (GO:0000159)	protein phosphatase type 2A regulator activity (GO:0008601)	p.A257V(1)|p.A312V(1)		endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(9)|ovary(1)|prostate(4)|skin(3)	32			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CAGGGCAGATGCCCGCATGTC	0.597																																						ENST00000394413.3																			2	Substitution - Missense(2)	p.A257V(1)|p.A312V(1)	prostate(2)	endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(9)|ovary(1)|prostate(4)|skin(3)	32						c.(760-762)gCa>gTa		protein phosphatase 2, regulatory subunit B, beta							131	100	110					5																	146017843		2203	4300	6503	SO:0001583	missense	5521				apoptosis|signal transduction	cytoskeleton|mitochondrial outer membrane|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity	g.chr5:146017843G>A	M64930	CCDS4283.1, CCDS4284.1, CCDS43380.1, CCDS4284.2, CCDS64282.1	5q32	2013-01-10	2010-04-14		ENSG00000156475	ENSG00000156475	3.1.3.16	"Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits", "WD repeat domain containing"	9305	protein-coding gene	gene with protein product	"PP2A subunit B isoform beta"	604325	"spinocerebellar ataxia 12", "protein phosphatase 2 (formerly 2A), regulatory subunit B (PR 52), beta isoform", "protein phosphatase 2 (formerly 2A), regulatory subunit B, beta isoform"	SCA12		1849734, 10581021	Standard	NM_181674		Approved	PR55-BETA, PR52B	uc003log.5	Q00005	OTTHUMG00000163381	ENST00000394413.3:c.761C>T	5.37:g.146017843G>A	ENSP00000377935:p.Ala254Val					PPP2R2B_ENST00000504198.1_Missense_Mutation_p.A260V|PPP2R2B_ENST00000530902.1_5'UTR|PPP2R2B_ENST00000394414.1_Missense_Mutation_p.A320V|PPP2R2B_ENST00000356826.3_Missense_Mutation_p.A254V|PPP2R2B_ENST00000453001.1_Missense_Mutation_p.A254V|PPP2R2B_ENST00000394411.4_Missense_Mutation_p.A254V|PPP2R2B_ENST00000394410.2_Missense_Mutation_p.A243V|PPP2R2B_ENST00000508545.2_Missense_Mutation_p.A243V|PPP2R2B_ENST00000394409.3_Missense_Mutation_p.A312V|PPP2R2B_ENST00000336640.6_Missense_Mutation_p.A257V	p.A254V			Q00005	2ABB_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		6	1331	-			254					A6NEJ2|A8K102|B3KPD0|B7Z2F2|B7Z304|D3DQF7|D3DQF8|G3V149	Missense_Mutation	SNP	ENST00000394413.3	37	c.761C>T	CCDS4284.1	.	.	.	.	.	.	.	.	.	.	G	15.28	2.787867	0.49997	.	.	ENSG00000156475	ENST00000394413;ENST00000508545;ENST00000394414;ENST00000394411;ENST00000356826;ENST00000453001;ENST00000394410;ENST00000336640;ENST00000504198;ENST00000394409	T;T;T;T;T;T;T;T;T;T	0.29655	1.56;1.56;1.56;1.56;1.56;1.56;1.56;1.56;1.56;1.56	5.4	5.4	0.78164	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.561745	0.19336	N	0.116787	T	0.36110	0.0955	L	0.58583	1.82	0.21147	N	0.99977	B;B;B;B;B;B	0.13594	0.006;0.008;0.003;0.006;0.008;0.001	B;B;B;B;B;B	0.13407	0.005;0.003;0.003;0.005;0.009;0.002	T	0.22661	-1.0210	10	0.52906	T	0.07	-4.0546	19.2061	0.93730	0.0:0.0:1.0:0.0	.	312;260;243;320;257;254	Q00005-4;Q00005-3;G3V149;Q00005-5;Q00005-2;Q00005	.;.;.;.;.;2ABB_HUMAN	V	254;243;320;254;254;254;243;257;260;312	ENSP00000377935:A254V;ENSP00000431320:A243V;ENSP00000377936:A320V;ENSP00000377933:A254V;ENSP00000349283:A254V;ENSP00000398779:A254V;ENSP00000377932:A243V;ENSP00000336591:A257V;ENSP00000421396:A260V;ENSP00000377931:A312V	ENSP00000336591:A257V	A	-	2	0	AC011357.1	145998036	0.773000	0.28580	0.878000	0.34440	0.970000	0.65996	4.255000	0.58804	2.536000	0.85505	0.650000	0.86243	GCA		0.597	PPP2R2B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251893.2	NM_181678		8	68	0	0	0	0.058154	0	8	68					A	146017843	G	A	146017843	3	1	157	1	0	0	0	0	1	0	0	0	12385	1319	46	3	586	3	PPP2R2B	5	146017843	Missense_Mutation	SNP	G	TCGA-G9-6348-01A-11D-1786-08		146017843	34897417	19	7623											
TMEM200A	114801	broad.mit.edu	37	chr6	130762197	130762197	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agattggcagcaaatacgatCgcctctttctcgggttttcg	8	13	10	10	4	2	1	0	0	2	1	5	2	2	1	1	2	2	3	1	2	2	5			TCGA-G9-6348-01A-11D-1786-08	TCGA-G9-6348-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	663c2f26-4e49-4752-bde5-fb5e9229daf9	e6ab50da-966a-4429-95c9-36e22d269e25	g.chr6:130762197C>A	ENST00000296978.3	+	3	1501	c.630C>A	c.(628-630)atC>atA	p.I210I	TMEM200A_ENST00000545622.1_Silent_p.I210I|TMEM200A_ENST00000392429.1_Silent_p.I210I	NM_001258276.1|NM_001258277.1|NM_001258278.1	NP_001245205.1|NP_001245206.1|NP_001245207.1	Q86VY9	T200A_HUMAN	transmembrane protein 200A	210						integral component of membrane (GO:0016021)		p.I210I(2)		NS(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(30)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52				GBM - Glioblastoma multiforme(226;0.0139)|OV - Ovarian serous cystadenocarcinoma(155;0.12)		CAAATACGATCGCCTCTTTCT	0.468																																						ENST00000392429.1																			2	Substitution - coding silent(2)	p.I210I(2)	prostate(2)	NS(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(30)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						c.(628-630)atC>atA		transmembrane protein 200A							71	68	69					6																	130762197		2203	4300	6503	SO:0001819	synonymous_variant	114801					integral to membrane		g.chr6:130762197C>A	AB067500	CCDS5140.1	6q23.1	2009-09-04	2007-12-18	2007-12-18	ENSG00000164484	ENSG00000164484			21075	protein-coding gene	gene with protein product			"KIAA1913"	KIAA1913		15722956	Standard	NM_001258276		Approved	TTMC	uc010kfh.4	Q86VY9	OTTHUMG00000015557	ENST00000296978.3:c.630C>A	6.37:g.130762197C>A						TMEM200A_ENST00000545622.1_Silent_p.I210I|TMEM200A_ENST00000296978.3_Silent_p.I210I	p.I210I	NM_052913.2	NP_443145.1	Q86VY9	T200A_HUMAN		GBM - Glioblastoma multiforme(226;0.0139)|OV - Ovarian serous cystadenocarcinoma(155;0.12)	2	3008	+			210					Q96PX5	Silent	SNP	ENST00000296978.3	37	c.630C>A	CCDS5140.1																																																																																				0.468	TMEM200A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042201.1	NM_052913		3	38	1	0	0.004672	0.004672	0.00535019	3	38					A	130762197	C	A	130762197	2	1	157	1	0	0	0	0	0	0	0	1	16120	874	31	5		5	TMEM200A	6	130762197	Silent	SNP	C	TCGA-G9-6348-01A-11D-1786-08		130762197	40352870	20	7624											
MOXD1	26002	broad.mit.edu	37	chr6	132641814	132641814	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgttgtagcgacactcagtaAttaggttatctccctgaaac	11	13	8	9	1	2	1	1	1	1	0	3	2	2	1	1	1	2	4	1	1	5	5			TCGA-G9-6348-01A-11D-1786-08	TCGA-G9-6348-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	663c2f26-4e49-4752-bde5-fb5e9229daf9	e6ab50da-966a-4429-95c9-36e22d269e25	g.chr6:132641814A>G	ENST00000367963.3	-	9	1437	c.1319T>C	c.(1318-1320)aTt>aCt	p.I440T	MOXD1_ENST00000336749.3_Missense_Mutation_p.I372T|MOXD1_ENST00000489128.1_5'UTR	NM_015529.2	NP_056344.2	Q6UVY6	MOXD1_HUMAN	monooxygenase, DBH-like 1	440						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	copper ion binding (GO:0005507)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced ascorbate as one donor, and incorporation of one atom of oxygen (GO:0016715)	p.I440T(1)|p.I372T(1)		breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(3)|skin(1)	37	Breast(56;0.0495)			OV - Ovarian serous cystadenocarcinoma(155;0.0132)|GBM - Glioblastoma multiforme(226;0.0191)		ACACTCAGTAATTAGGTTATC	0.308																																						ENST00000367963.3																			2	Substitution - Missense(2)	p.I440T(1)|p.I372T(1)	prostate(2)	breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(3)|skin(1)	37						c.(1318-1320)aTt>aCt		monooxygenase, DBH-like 1							73	73	73					6																	132641814		2203	4300	6503	SO:0001583	missense	26002				catecholamine metabolic process	endoplasmic reticulum membrane|integral to membrane	copper ion binding|dopamine beta-monooxygenase activity	g.chr6:132641814A>G	AY007239	CCDS5152.2	6q23.2	2010-09-24			ENSG00000079931	ENSG00000079931			21063	protein-coding gene	gene with protein product		609000				9751809	Standard	XM_006715456		Approved	DKFZP564G202, MOX, dJ248E1.1	uc003qdf.3	Q6UVY6	OTTHUMG00000055853	ENST00000367963.3:c.1319T>C	6.37:g.132641814A>G	ENSP00000356940:p.Ile440Thr					MOXD1_ENST00000336749.3_Missense_Mutation_p.I372T|MOXD1_ENST00000489128.1_5'UTR	p.I440T	NM_015529.2	NP_056344.2	Q6UVY6	MOXD1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.0132)|GBM - Glioblastoma multiforme(226;0.0191)	9	1437	-	Breast(56;0.0495)		440					Q5THU6|Q8NC97|Q8WV49|Q9H4M6|Q9Y4U3	Missense_Mutation	SNP	ENST00000367963.3	37	c.1319T>C	CCDS5152.2	.	.	.	.	.	.	.	.	.	.	A	15.92	2.974684	0.53720	.	.	ENSG00000079931	ENST00000367963;ENST00000336749	T;T	0.76968	-1.06;-1.06	5.58	5.58	0.84498	PHM/PNGase F domain (1);Copper type II, ascorbate-dependent monooxygenase-like, C-terminal (1);	0.058074	0.64402	D	0.000003	T	0.73024	0.3534	L	0.47078	1.49	0.80722	D	1	B;P	0.49559	0.118;0.925	B;P	0.49752	0.217;0.621	T	0.77362	-0.2616	10	0.62326	D	0.03	-22.7767	15.7142	0.77655	1.0:0.0:0.0:0.0	.	440;372	Q6UVY6;Q6UVY6-2	MOXD1_HUMAN;.	T	440;372	ENSP00000356940:I440T;ENSP00000336998:I372T	ENSP00000336998:I372T	I	-	2	0	MOXD1	132683507	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	7.373000	0.79623	2.244000	0.73946	0.460000	0.39030	ATT		0.308	MOXD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000125837.1	NM_015529		6	24	0	0	0	0.021553	0	6	24					G	132641814	A	G	132641814	3	3	157	1	0	0	0	0	1	0	0	0	9720	101	4	4	538	4	MOXD1	6	132641814	Missense_Mutation	SNP	A	TCGA-G9-6348-01A-11D-1786-08	1879617	132641814	38473253	21	7625											
MLLT4	4301	broad.mit.edu	37	chr6	168297653	168297653	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tggatgacaactctatccagGtacgtagtctgagcttcctg	9	12	10	10	1	2	2	0	2	2	0	4	3	4	3	2	2	3	3	2	2	4	4			TCGA-G9-6348-01A-11D-1786-08	TCGA-G9-6348-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	663c2f26-4e49-4752-bde5-fb5e9229daf9	e6ab50da-966a-4429-95c9-36e22d269e25	g.chr6:168297653G>T	ENST00000447894.2	+	10	1317		c.e10+1		MLLT4_ENST00000344191.4_Splice_Site|MLLT4_ENST00000392108.3_Splice_Site|MLLT4_ENST00000366806.2_Splice_Site|MLLT4_ENST00000392112.1_Splice_Site|MLLT4_ENST00000351017.4_Splice_Site|MLLT4_ENST00000400822.3_Splice_Site			P55196	AFAD_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4						adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cell-cell signaling (GO:0007267)|signal transduction (GO:0007165)	apical part of cell (GO:0045177)|cell junction (GO:0030054)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein C-terminus binding (GO:0008022)	p.?(2)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65		Breast(66;1.07e-05)|Ovarian(120;0.024)		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)		CTCTATCCAGGTACGTAGTCT	0.433			T	MLL	AL																																	ENST00000366806.2				Dom	yes		6	6q27	4301	T	"myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4 (AF6)"			L	MLL		AL		2	Unknown(2)	p.?(2)	prostate(2)	breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65						c.e10+1		myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4							89	84	86					6																	168297653		2203	4300	6503	SO:0001630	splice_region_variant	4301				adherens junction organization|cell adhesion|cell junction assembly|cell-cell signaling|signal transduction	adherens junction|cell-cell junction|cytosol|nucleus	protein C-terminus binding	g.chr6:168297653G>T	AB011399	CCDS47517.1, CCDS75553.1	6q27	2008-02-05	2001-11-28		ENSG00000130396	ENSG00000130396			7137	protein-coding gene	gene with protein product		159559	"myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 4"			8242616	Standard	NM_001040000		Approved	AF-6, AF6	uc021zij.1	P55196	OTTHUMG00000016031	ENST00000447894.2:c.1317+1G>T	6.37:g.168297653G>T						MLLT4_ENST00000392112.1_Splice_Site|MLLT4_ENST00000400822.3_Splice_Site|MLLT4_ENST00000392108.3_Splice_Site|MLLT4_ENST00000344191.4_Splice_Site|MLLT4_ENST00000351017.4_Splice_Site|MLLT4_ENST00000447894.2_Splice_Site				P55196	AFAD_HUMAN		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)	10	1459	+		Breast(66;1.07e-05)|Ovarian(120;0.024)						O75087|O75088|O75089|Q59FP0|Q5TIG6|Q5TIG7|Q9NSN7|Q9NU92	Splice_Site	SNP	ENST00000447894.2	37			.	.	.	.	.	.	.	.	.	.	G	19.93	3.917946	0.73098	.	.	ENSG00000130396	ENST00000344191;ENST00000351017;ENST00000392108;ENST00000366806;ENST00000392112;ENST00000341575;ENST00000400822;ENST00000447894;ENST00000423229	.	.	.	5.27	5.27	0.74061	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.8669	0.92296	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	MLLT4	168040502	1.000000	0.71417	0.995000	0.50966	0.691000	0.40173	9.467000	0.97671	2.447000	0.82792	0.591000	0.81541	.		0.433	MLLT4-013	PUTATIVE	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000372077.1	NM_005936	Intron	5	22	1	0	0.000602214	0.014758	0.00071262	5	22					T	168297653	G	T	168297653	5	4	157	1	0	0	0	0	0	0	1	0	9629	1275	44	5	1356	5	MLLT4	6	168297653	Splice_Site	SNP	G	TCGA-G9-6348-01A-11D-1786-08	35655839	168297653	2817414	22	7626											
GALNTL5	168391	broad.mit.edu	37	chr7	151664546	151664546	+	Missense_Mutation	SNP	G	G	A																															acctcatgtaatagtcaaaaGgactgatgaagataaagcaa																										TCGA-G9-6348-01A-11D-1786-08	TCGA-G9-6348-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	663c2f26-4e49-4752-bde5-fb5e9229daf9	e6ab50da-966a-4429-95c9-36e22d269e25	g.chr7:151664546G>A	ENST00000392800.2	+	2	469	c.215G>A	c.(214-216)aGg>aAg	p.R72K	GALNTL5_ENST00000431418.2_Missense_Mutation_p.R72K	NM_145292.3	NP_660335.2	Q7Z4T8	GLTL5_HUMAN	polypeptide N-acetylgalactosaminyltransferase-like 5	72					spermatid development (GO:0007286)	endosome (GO:0005768)|integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)	p.R72K(1)		NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(11)|ovary(2)|prostate(2)|skin(3)	32	all_neural(206;0.187)	all_hematologic(28;0.0749)	OV - Ovarian serous cystadenocarcinoma(82;0.00427)	UCEC - Uterine corpus endometrioid carcinoma (81;0.18)|BRCA - Breast invasive adenocarcinoma(188;0.166)		ATAGTCAAAAGGACTGATGAA	0.373																																						ENST00000392800.2																			1	Substitution - Missense(1)	p.R72K(1)	prostate(1)	NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(11)|ovary(2)|prostate(2)|skin(3)	32						c.(214-216)aGg>aAg		UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 5							80	83	82					7																	151664546		2203	4300	6503	SO:0001583	missense	168391					Golgi membrane|integral to membrane	transferase activity, transferring glycosyl groups	g.chr7:151664546G>A	AF440400	CCDS5929.1	7q36.2	2014-03-13	2014-03-13	2004-07-28	ENSG00000106648	ENSG00000106648		"Glycosyltransferase family 2 domain containing"	21725	protein-coding gene	gene with protein product	"polypeptide GalNAc transferase-like 5"	615133	"UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 15", "UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 5"	GALNT15			Standard	NM_145292		Approved	GalNAc-T5L	uc003wkp.3	Q7Z4T8	OTTHUMG00000157306	ENST00000392800.2:c.215G>A	7.37:g.151664546G>A	ENSP00000376548:p.Arg72Lys					GALNTL5_ENST00000431418.2_Missense_Mutation_p.R72K	p.R72K	NM_145292.3	NP_660335.2	Q7Z4T8	GLTL5_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00427)	UCEC - Uterine corpus endometrioid carcinoma (81;0.18)|BRCA - Breast invasive adenocarcinoma(188;0.166)	2	469	+	all_neural(206;0.187)	all_hematologic(28;0.0749)	72					Q75KN2|Q75MD3|Q8NCV4|Q8WW05|Q9UDR9	Missense_Mutation	SNP	ENST00000392800.2	37	c.215G>A	CCDS5929.1	.	.	.	.	.	.	.	.	.	.	G	0.007	-1.954945	0.00470	.	.	ENSG00000106648	ENST00000431418;ENST00000392800	T;T	0.58060	0.36;0.36	4.1	-8.2	0.01045	.	7745.180000	0.00166	N	0.000000	T	0.17323	0.0416	N	0.01874	-0.695	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.30060	-0.9991	10	0.07482	T	0.82	.	0.8812	0.01234	0.3225:0.2472:0.0986:0.3317	.	72	Q7Z4T8	GLTL5_HUMAN	K	72	ENSP00000392582:R72K;ENSP00000376548:R72K	ENSP00000376548:R72K	R	+	2	0	GALNTL5	151295479	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-3.326000	0.00511	-3.776000	0.00108	-1.150000	0.01838	AGG		0.373	GALNTL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348395.1	NM_145292		4	41	0	0	0	0.014758	0	4	41					A	151664546	G	A	151664546	3	1	157	1	0	0	0	0	1	0	0	0	6224	1000	35	3	217	3	GALNTL5	7	151664546	Missense_Mutation	SNP	G	TCGA-G9-6348-01A-11D-1786-08		151664546	7474117	23	7627	44	2									
GALNTL5	168391	broad.mit.edu	37	chr7	151664547	151664547	+	Missense_Mutation	SNP	G	G	C																															cctcatgtaatagtcaaaagGactgatgaagataaagcaaa																										TCGA-G9-6348-01A-11D-1786-08	TCGA-G9-6348-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	663c2f26-4e49-4752-bde5-fb5e9229daf9	e6ab50da-966a-4429-95c9-36e22d269e25	g.chr7:151664547G>C	ENST00000392800.2	+	2	470	c.216G>C	c.(214-216)agG>agC	p.R72S	GALNTL5_ENST00000431418.2_Missense_Mutation_p.R72S	NM_145292.3	NP_660335.2	Q7Z4T8	GLTL5_HUMAN	polypeptide N-acetylgalactosaminyltransferase-like 5	72					spermatid development (GO:0007286)	endosome (GO:0005768)|integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)	p.R72S(1)		NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(11)|ovary(2)|prostate(2)|skin(3)	32	all_neural(206;0.187)	all_hematologic(28;0.0749)	OV - Ovarian serous cystadenocarcinoma(82;0.00427)	UCEC - Uterine corpus endometrioid carcinoma (81;0.18)|BRCA - Breast invasive adenocarcinoma(188;0.166)		TAGTCAAAAGGACTGATGAAG	0.373																																						ENST00000392800.2																			1	Substitution - Missense(1)	p.R72S(1)	prostate(1)	NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(11)|ovary(2)|prostate(2)|skin(3)	32						c.(214-216)agG>agC		UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 5							79	83	82					7																	151664547		2203	4300	6503	SO:0001583	missense	168391					Golgi membrane|integral to membrane	transferase activity, transferring glycosyl groups	g.chr7:151664547G>C	AF440400	CCDS5929.1	7q36.2	2014-03-13	2014-03-13	2004-07-28	ENSG00000106648	ENSG00000106648		"Glycosyltransferase family 2 domain containing"	21725	protein-coding gene	gene with protein product	"polypeptide GalNAc transferase-like 5"	615133	"UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 15", "UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 5"	GALNT15			Standard	NM_145292		Approved	GalNAc-T5L	uc003wkp.3	Q7Z4T8	OTTHUMG00000157306	ENST00000392800.2:c.216G>C	7.37:g.151664547G>C	ENSP00000376548:p.Arg72Ser					GALNTL5_ENST00000431418.2_Missense_Mutation_p.R72S	p.R72S	NM_145292.3	NP_660335.2	Q7Z4T8	GLTL5_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00427)	UCEC - Uterine corpus endometrioid carcinoma (81;0.18)|BRCA - Breast invasive adenocarcinoma(188;0.166)	2	470	+	all_neural(206;0.187)	all_hematologic(28;0.0749)	72					Q75KN2|Q75MD3|Q8NCV4|Q8WW05|Q9UDR9	Missense_Mutation	SNP	ENST00000392800.2	37	c.216G>C	CCDS5929.1	.	.	.	.	.	.	.	.	.	.	G	3.114	-0.182007	0.06340	.	.	ENSG00000106648	ENST00000431418;ENST00000392800	T;T	0.58652	0.32;0.32	4.1	-8.2	0.01045	.	7745.180000	0.00166	N	0.000000	T	0.31979	0.0814	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.19910	-1.0291	10	0.25106	T	0.35	.	2.4594	0.04538	0.1424:0.2518:0.1415:0.4643	.	72	Q7Z4T8	GLTL5_HUMAN	S	72	ENSP00000392582:R72S;ENSP00000376548:R72S	ENSP00000376548:R72S	R	+	3	2	GALNTL5	151295480	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.389000	0.02530	-2.868000	0.00324	-0.257000	0.10917	AGG		0.373	GALNTL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348395.1	NM_145292		4	39	0	0	0	0.014758	0	4	39					C	151664547	G	C	151664547	3	2	157	1	0	0	0	0	1	0	0	0	6224	1165	41	5	218	5	GALNTL5	7	151664547	Missense_Mutation	SNP	G	TCGA-G9-6348-01A-11D-1786-08	1	151664547	7474116	24	7628	44	2									
DOCK5	80005	broad.mit.edu	37	chr8	25166414	25166414	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcttgaataaagtgattgcaGcaaaggaagtgaatcacaaa	18	9	9	5	0	2	3	1	3	1	0	2	4	2	4	0	1	2	2	0	1	7	3			TCGA-G9-6348-01A-11D-1786-08	TCGA-G9-6348-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	663c2f26-4e49-4752-bde5-fb5e9229daf9	e6ab50da-966a-4429-95c9-36e22d269e25	g.chr8:25166414G>A	ENST00000276440.7	+	12	1209	c.1165G>A	c.(1165-1167)Gca>Aca	p.A389T		NM_024940.6	NP_079216.4	Q9H7D0	DOCK5_HUMAN	dedicator of cytokinesis 5	389					positive regulation of GTPase activity (GO:0043547)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)	p.A389T(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)		AGTGATTGCAGCAAAGGAAGT	0.522																																					Pancreas(145;34 1887 3271 10937 30165)	ENST00000276440.7																			1	Substitution - Missense(1)	p.A389T(1)	prostate(1)	NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72						c.(1165-1167)Gca>Aca		dedicator of cytokinesis 5							83	69	74					8																	25166414		2203	4300	6503	SO:0001583	missense	80005					cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	g.chr8:25166414G>A		CCDS6047.1	8p21.2	2009-04-17			ENSG00000147459	ENSG00000147459			23476	protein-coding gene	gene with protein product						12432077	Standard	NM_024940		Approved	FLJ21034	uc003xeg.3	Q9H7D0	OTTHUMG00000131991	ENST00000276440.7:c.1165G>A	8.37:g.25166414G>A	ENSP00000276440:p.Ala389Thr						p.A389T	NM_024940.6	NP_079216.4	Q9H7D0	DOCK5_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)	12	1209	+		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)	389					B2RNY0|Q5XKD5|Q6AI11|Q6PJS6|Q6ZTS6	Missense_Mutation	SNP	ENST00000276440.7	37	c.1165G>A	CCDS6047.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	4.245|4.245	0.044511|0.044511	0.08196|0.08196	.|.	.|.	ENSG00000147459|ENSG00000147459	ENST00000276440|ENST00000444569	T|.	0.17213|.	2.29|.	6.11|6.11	2.08|2.08	0.27032|0.27032	.|.	0.294524|.	0.38217|.	N|.	0.001768|.	T|T	0.21347|0.21347	0.0514|0.0514	N|N	0.12569|0.12569	0.235|0.235	0.19945|0.19945	N|N	0.999948|0.999948	B;B|.	0.02656|.	0.0;0.0|.	B;B|.	0.06405|.	0.002;0.001|.	T|T	0.24621|0.24621	-1.0155|-1.0155	10|5	0.14656|.	T|.	0.56|.	.|.	10.1302|10.1302	0.42674|0.42674	0.2868:0.0:0.7132:0.0|0.2868:0.0:0.7132:0.0	.|.	164;389|.	Q68DL4;Q9H7D0|.	.;DOCK5_HUMAN|.	T|N	389|160	ENSP00000276440:A389T|.	ENSP00000276440:A389T|.	A|S	+|+	1|2	0|0	DOCK5|DOCK5	25222331|25222331	0.972000|0.972000	0.33761|0.33761	0.067000|0.067000	0.19924|0.19924	0.712000|0.712000	0.41017|0.41017	2.181000|2.181000	0.42547|0.42547	0.377000|0.377000	0.24735|0.24735	0.655000|0.655000	0.94253|0.94253	GCA|AGC		0.522	DOCK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254955.2	NM_024940		3	41	0	0	0	0.009096	0	3	41					A	25166414	G	A	25166414	3	1	157	1	0	0	0	0	1	0	0	0	4690	971	34	3	1211	3	DOCK5	8	25166414	Missense_Mutation	SNP	G	TCGA-G9-6348-01A-11D-1786-08		25166414	121197608	25	7629											
ZFHX4	79776	broad.mit.edu	37	chr8	77690474	77690474	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	agcaagagggtgcagtgaatCccgaatcctgctattactac	12	9	10	10	1	0	2	0	1	0	1	2	3	2	2	2	1	5	3	2	1	6	3			TCGA-G9-6348-01A-11D-1786-08	TCGA-G9-6348-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	663c2f26-4e49-4752-bde5-fb5e9229daf9	e6ab50da-966a-4429-95c9-36e22d269e25	g.chr8:77690474C>T	ENST00000521891.2	+	4	3572	c.3124C>T	c.(3124-3126)Ccc>Tcc	p.P1042S	ZFHX4_ENST00000517683.1_3'UTR|ZFHX4_ENST00000050961.6_Missense_Mutation_p.P1016S|ZFHX4_ENST00000518282.1_Missense_Mutation_p.P1016S|ZFHX4_ENST00000455469.2_Missense_Mutation_p.P1016S	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	1016					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)	p.P1042S(2)		NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			TGCAGTGAATCCCGAATCCTG	0.483										HNSCC(33;0.089)																												ENST00000521891.2																			2	Substitution - Missense(2)	p.P1042S(2)	prostate(2)	NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432						c.(3124-3126)Ccc>Tcc		zinc finger homeobox 4							127	126	126					8																	77690474		2005	4162	6167	SO:0001583	missense	79776					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:77690474C>T		CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"Homeoboxes / ZF class"	30939	protein-coding gene	gene with protein product		606940	"zinc finger homeodomain 4"			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.3124C>T	8.37:g.77690474C>T	ENSP00000430497:p.Pro1042Ser	HNSCC(33;0.089)				ZFHX4_ENST00000050961.6_Missense_Mutation_p.P1016S|ZFHX4_ENST00000455469.2_Missense_Mutation_p.P1016S|ZFHX4_ENST00000518282.1_Missense_Mutation_p.P1016S|ZFHX4_ENST00000517683.1_3'UTR	p.P1042S	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.0895)		4	3572	+			1016					G3V138|Q18PS0|Q6ZN20	Missense_Mutation	SNP	ENST00000521891.2	37	c.3124C>T	CCDS47878.2	.	.	.	.	.	.	.	.	.	.	C	5.379	0.255137	0.10185	.	.	ENSG00000091656	ENST00000521891;ENST00000399468;ENST00000455469;ENST00000050961;ENST00000518282	T;T;T;T	0.38887	1.11;1.11;1.11;1.11	5.22	2.34	0.29019	.	0.322259	0.22228	N	0.062847	T	0.16642	0.0400	N	0.10916	0.065	0.32614	N	0.524203	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.06405	0.001;0.002;0.002	T	0.33163	-0.9879	10	0.02654	T	1	.	5.6426	0.17572	0.0:0.6205:0.1396:0.2399	.	1016;1016;1042	Q86UP3;Q86UP3-4;G3V138	ZFHX4_HUMAN;.;.	S	1042;1042;1016;1016;1016	ENSP00000430497:P1042S;ENSP00000399605:P1016S;ENSP00000050961:P1016S;ENSP00000430848:P1016S	ENSP00000050961:P1016S	P	+	1	0	ZFHX4	77853029	0.996000	0.38824	0.955000	0.39395	0.957000	0.61999	1.011000	0.29911	0.394000	0.25230	0.650000	0.86243	CCC		0.483	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	NM_024721		25	99	0	0	0	0.0918	0	25	99					T	77690474	C	T	77690474	3	4	157	1	0	0	0	0	1	0	0	0	17632	855	30	3	3134	3	ZFHX4	8	77690474	Missense_Mutation	SNP	C	TCGA-G9-6348-01A-11D-1786-08	52524060	77690474	68673548	26	7630											
KIAA1984	84960	broad.mit.edu	37	chr9	139701517	139701517	+	Splice_Site	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaccgggaggaggatatgatCggtacaggccccggaactgg	11	5	16	9	3	0	1	0	1	0	0	1	5	0	5	3	7	3	1	3	7	4	2			TCGA-G9-6348-01A-11D-1786-08	TCGA-G9-6348-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	663c2f26-4e49-4752-bde5-fb5e9229daf9	e6ab50da-966a-4429-95c9-36e22d269e25	g.chr9:139701517C>A	ENST00000338005.6	+	13	1520	c.1485C>A	c.(1483-1485)atC>atA	p.I495I	RP11-216L13.19_ENST00000415992.1_RNA|KIAA1984-AS1_ENST00000414656.1_RNA|RABL6_ENST00000311502.7_5'Flank|RABL6_ENST00000371663.4_5'Flank|RP11-216L13.18_ENST00000471502.1_RNA|RABL6_ENST00000357466.2_5'Flank|RABL6_ENST00000371671.4_5'Flank	NM_001039374.4	NP_001034463.4	Q5T5S1	CC183_HUMAN		495								p.I495I(1)		biliary_tract(1)|breast(1)|endometrium(1)|kidney(2)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	13	all_cancers(76;0.0882)|all_epithelial(76;0.228)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;9.33e-06)|Epithelial(140;0.000124)		AGGATATGATCGGTACAGGCC	0.642																																						ENST00000338005.6																			1	Substitution - coding silent(1)	p.I495I(1)	prostate(1)	biliary_tract(1)|breast(1)|endometrium(1)|kidney(2)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	13						c.e13+1		KIAA1984							33	38	36					9																	139701517		1947	4125	6072	SO:0001630	splice_region_variant	84960							g.chr9:139701517C>A																												ENST00000338005.6:c.1486+1C>A	9.37:g.139701517C>A						KIAA1984-AS1_ENST00000414656.1_RNA	p.I495_splice	NM_001039374.4	NP_001034463.4	Q5T5S1	K1984_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;9.33e-06)|Epithelial(140;0.000124)	13	1520	+	all_cancers(76;0.0882)|all_epithelial(76;0.228)	Myeloproliferative disorder(178;0.0511)	495					B2RP89|C9JD38|Q6P2D9|Q8NAI4|Q8TF18	Splice_Site	SNP	ENST00000338005.6	37	c.1486_splice	CCDS43906.1																																																																																				0.642	KIAA1984-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354899.1		Silent	3	43	1	0	0.004672	0.004672	0.00535019	3	43					A	139701517	C	A	139701517	5	1	157	1	0	0	0	0	0	0	1	0	8266	898	31	5	1535	5	KIAA1984	9	139701517	Splice_Site	SNP	C	TCGA-G9-6348-01A-11D-1786-08		139701517	1511914	27	7631											
GAD2	2572	broad.mit.edu	37	chr10	26575384	26575384	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccttacagtgcggacgccaCgttgatgtttttaaactatg	9	13	10	9	3	0	1	0	1	0	0	0	2	0	2	2	1	3	2	2	1	4	6			TCGA-G9-6348-01A-11D-1786-08	TCGA-G9-6348-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	663c2f26-4e49-4752-bde5-fb5e9229daf9	e6ab50da-966a-4429-95c9-36e22d269e25	g.chr10:26575384C>T	ENST00000376261.3	+	13	1850	c.1347C>T	c.(1345-1347)caC>caT	p.H449H	GAD2_ENST00000259271.3_Silent_p.H449H	NM_001134366.1	NP_001127838.1	Q05329	DCE2_HUMAN	glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa)	449					glutamate decarboxylation to succinate (GO:0006540)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter secretion (GO:0007269)|response to drug (GO:0042493)|synaptic transmission (GO:0007268)	anchored component of membrane (GO:0031225)|axon (GO:0030424)|cell junction (GO:0030054)|clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane (GO:0061202)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|synaptic vesicle membrane (GO:0030672)	glutamate binding (GO:0016595)|glutamate decarboxylase activity (GO:0004351)|pyridoxal phosphate binding (GO:0030170)	p.H449H(1)		central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(26)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						GCGGACGCCACGTTGATGTTT	0.443																																						ENST00000376261.3																			1	Substitution - coding silent(1)	p.H449H(1)	prostate(1)	central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(26)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						c.(1345-1347)caC>caT		glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa)	L-Glutamic Acid(DB00142)						122	100	108					10																	26575384		2203	4300	6503	SO:0001819	synonymous_variant	2572				glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion	cell junction|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|Golgi membrane|presynaptic membrane	glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding	g.chr10:26575384C>T	AJ251501	CCDS7149.1	10p13-p11.2	2003-11-11	2002-08-29		ENSG00000136750	ENSG00000136750	4.1.1.15		4093	protein-coding gene	gene with protein product		138275	"glutamate decarboxylase 2 (pancreatic islets and brain, 65kD)"			2039509	Standard	NM_000818		Approved	GAD65	uc001isp.2	Q05329	OTTHUMG00000017836	ENST00000376261.3:c.1347C>T	10.37:g.26575384C>T						GAD2_ENST00000259271.3_Silent_p.H449H	p.H449H	NM_001134366.1	NP_001127838.1	Q05329	DCE2_HUMAN			13	1850	+			449					Q9UD87	Silent	SNP	ENST00000376261.3	37	c.1347C>T	CCDS7149.1																																																																																				0.443	GAD2-001	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047255.1	NM_000818		9	61	0	0	0	0.058154	0	9	61					T	26575384	C	T	26575384	2	4	157	1	0	0	0	0	0	0	0	1	6180	535	19	1		1	GAD2	10	26575384	Silent	SNP	C	TCGA-G9-6348-01A-11D-1786-08		26575384	108959363	28	7632											
LTBP3	4054	broad.mit.edu	37	chr11	65315007	65315007	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atgcagaagccgccgtcgccGcacaggtggggcttggcgca	7	5	16	13	5	0	1	0	0	0	1	1	1	0	1	3	4	2	4	3	4	1	1			TCGA-G9-6348-01A-11D-1786-08	TCGA-G9-6348-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	663c2f26-4e49-4752-bde5-fb5e9229daf9	e6ab50da-966a-4429-95c9-36e22d269e25	g.chr11:65315007G>A	ENST00000301873.5	-	14	2278	c.2010C>T	c.(2008-2010)tgC>tgT	p.C670C	LTBP3_ENST00000536982.1_Silent_p.C296C|LTBP3_ENST00000322147.4_Silent_p.C670C|LTBP3_ENST00000530785.1_5'Flank|LTBP3_ENST00000532932.1_Silent_p.C100C|LTBP3_ENST00000529189.1_5'Flank	NM_001130144.2	NP_001123616.1	Q9NS15	LTBP3_HUMAN	latent transforming growth factor beta binding protein 3	670	Cys-rich.|EGF-like 5; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				bone morphogenesis (GO:0060349)|bone remodeling (GO:0046849)|extracellular matrix organization (GO:0030198)|lung saccule development (GO:0060430)|negative regulation of bone mineralization (GO:0030502)|negative regulation of chondrocyte differentiation (GO:0032331)|positive regulation of bone resorption (GO:0045780)|positive regulation of mesenchymal stem cell differentiation (GO:2000741)|positive regulation of mesenchymal stem cell proliferation (GO:1902462)|transforming growth factor beta activation (GO:0036363)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|transforming growth factor beta binding (GO:0050431)	p.C670C(1)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|prostate(2)|upper_aerodigestive_tract(3)	23						CGCCGTCGCCGCACAGGTGGG	0.657																																						ENST00000301873.5																			1	Substitution - coding silent(1)	p.C670C(1)	prostate(1)	breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|prostate(2)|upper_aerodigestive_tract(3)	23						c.(2008-2010)tgC>tgT		latent transforming growth factor beta binding protein 3							58	66	63					11																	65315007		2201	4297	6498	SO:0001819	synonymous_variant	4054					extracellular region	calcium ion binding|growth factor binding	g.chr11:65315007G>A	AF135960	CCDS8103.1, CCDS44647.1	11q12	2011-10-20			ENSG00000168056	ENSG00000168056		"Latent transforming growth factor, beta binding proteins"	6716	protein-coding gene	gene with protein product		602090		LTBP2		7719025	Standard	NM_001164266		Approved		uc001oej.3	Q9NS15	OTTHUMG00000166575	ENST00000301873.5:c.2010C>T	11.37:g.65315007G>A						LTBP3_ENST00000536982.1_Silent_p.C296C|LTBP3_ENST00000532932.1_Silent_p.C100C|LTBP3_ENST00000322147.4_Silent_p.C670C	p.C670C	NM_001130144.2	NP_001123616.1	Q9NS15	LTBP3_HUMAN			14	2278	-			670			Cys-rich.|EGF-like 5; calcium-binding (Potential).		O15107|Q96HB9|Q9H7K2|Q9UFN4	Silent	SNP	ENST00000301873.5	37	c.2010C>T	CCDS44647.1	.	.	.	.	.	.	.	.	.	.	G	5.642	0.303100	0.10678	.	.	ENSG00000168056	ENST00000526927	.	.	.	4.67	0.601	0.17529	.	.	.	.	.	T	0.53514	0.1801	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.40136	-0.9579	4	.	.	.	.	6.6827	0.23129	0.4259:0.0:0.5741:0.0	.	.	.	.	W	321	.	.	R	-	1	2	LTBP3	65071583	0.970000	0.33590	0.993000	0.49108	0.412000	0.31113	0.912000	0.28597	-0.163000	0.10946	0.313000	0.20887	CGG		0.657	LTBP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390538.1	NM_021070		5	118	0	0	0	0.021553	0	5	118					A	65315007	G	A	65315007	2	1	157	1	0	0	0	0	0	0	0	1	9075	1079	38	1		1	LTBP3	11	65315007	Silent	SNP	G	TCGA-G9-6348-01A-11D-1786-08		65315007	69691509	29	7633											
SLC37A4	2542	broad.mit.edu	37	chr11	118900037	118900037	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtagcccccaaacatggctgAgaagatcacagtgcgataat	14	7	10	10	1	1	2	1	1	0	2	1	4	1	2	2	1	3	2	2	1	4	2	rs528095472		TCGA-G9-6348-01A-11D-1786-08	TCGA-G9-6348-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	663c2f26-4e49-4752-bde5-fb5e9229daf9	e6ab50da-966a-4429-95c9-36e22d269e25	g.chr11:118900037A>C	ENST00000545985.1	-	3	799	c.43T>G	c.(43-45)Tca>Gca	p.S15A	SLC37A4_ENST00000525102.1_5'UTR|SLC37A4_ENST00000538950.1_Intron|SLC37A4_ENST00000330775.7_Missense_Mutation_p.S15A|SLC37A4_ENST00000357590.5_Missense_Mutation_p.S15A	NM_001164277.1|NM_001467.5	NP_001157749.1|NP_001458.1	O43826	G6PT1_HUMAN	solute carrier family 37 (glucose-6-phosphate transporter), member 4	15					carbohydrate metabolic process (GO:0005975)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glucose transport (GO:0015758)|glucose-6-phosphate transport (GO:0015760)|hexose transport (GO:0008645)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	glucose-6-phosphate transmembrane transporter activity (GO:0015152)|transporter activity (GO:0005215)	p.S15A(1)		endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|prostate(1)	6	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_neural(223;0.112)|all_hematologic(192;0.207)		BRCA - Breast invasive adenocarcinoma(274;7.58e-05)		AACATGGCTGAGAAGATCACA	0.517																																						ENST00000545985.1																			1	Substitution - Missense(1)	p.S15A(1)	prostate(1)	endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|prostate(1)	6						c.(43-45)Tca>Gca		solute carrier family 37 (glucose-6-phosphate transporter), member 4							86	85	85					11																	118900037		2038	4186	6224	SO:0001583	missense	2542				glucose homeostasis|glucose metabolic process	endoplasmic reticulum membrane|integral to endoplasmic reticulum membrane|integral to membrane	glucose-6-phosphate transmembrane transporter activity	g.chr11:118900037A>C	Y15409		11q23.3	2014-09-17	2007-03-28	2003-09-10		ENSG00000137700		"Solute carriers"	4061	protein-coding gene	gene with protein product		602671	"glucose-6-phosphatase, transport (glucose-6-phosphate) protein 1"	G6PT1, G6PT2, G6PT3		9428641, 9463334	Standard	NM_001164277		Approved	GSD1b, GSD1c, GSD1d	uc010ryt.1	O43826		ENST00000545985.1:c.43T>G	11.37:g.118900037A>C	ENSP00000475241:p.Ser15Ala					SLC37A4_ENST00000357590.5_Missense_Mutation_p.S15A|SLC37A4_ENST00000525102.1_5'UTR|SLC37A4_ENST00000538950.1_Intron|SLC37A4_ENST00000330775.7_Missense_Mutation_p.S15A	p.S15A	NM_001164277.1|NM_001467.5	NP_001157749.1|NP_001458.1	O43826	G6PT1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;7.58e-05)	3	799	-	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_neural(223;0.112)|all_hematologic(192;0.207)	15					O96016|Q5J7V4|Q9UI19|Q9UNS4	Missense_Mutation	SNP	ENST00000545985.1	37	c.43T>G																																																																																					0.517	SLC37A4-204	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001467		4	24	0	0	0	0.014758	0	4	24					C	118900037	A	C	118900037	3	2	157	1	0	0	0	0	1	0	0	0	14600	304	11	5	1349	5	SLC37A4	11	118900037	Missense_Mutation	SNP	A	TCGA-G9-6348-01A-11D-1786-08	53585030	118900037	16106479	30	7634											
APPL2	55198	broad.mit.edu	37	chr12	105571030	105571030	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ccttgatacttgagtctgtgGatctatcaacctgaaatttt	10	16	7	8	0	3	3	1	3	2	0	3	4	3	4	2	1	2	0	2	1	4	6			TCGA-G9-6348-01A-11D-1786-08	TCGA-G9-6348-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	663c2f26-4e49-4752-bde5-fb5e9229daf9	e6ab50da-966a-4429-95c9-36e22d269e25	g.chr12:105571030G>A	ENST00000258530.3	-	18	1870	c.1645C>T	c.(1645-1647)Cca>Tca	p.P549S	APPL2_ENST00000546731.1_5'Flank|APPL2_ENST00000539978.2_Missense_Mutation_p.P506S|APPL2_ENST00000551662.1_Missense_Mutation_p.P555S	NM_001251904.1|NM_018171.3	NP_001238833.1|NP_060641.2	Q06481	APLP2_HUMAN	adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 2	0					cellular copper ion homeostasis (GO:0006878)|cholesterol metabolic process (GO:0008203)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|G-protein coupled receptor signaling pathway (GO:0007186)|locomotory behavior (GO:0007626)|mating behavior (GO:0007617)|midbrain development (GO:0030901)|neuromuscular process controlling balance (GO:0050885)|regulation of epidermal growth factor-activated receptor activity (GO:0007176)|regulation of protein binding (GO:0043393)|suckling behavior (GO:0001967)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|serine-type endopeptidase inhibitor activity (GO:0004867)|transition metal ion binding (GO:0046914)	p.P549S(1)		breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						TGAGTCTGTGGATCTATCAAC	0.328																																						ENST00000258530.3																			1	Substitution - Missense(1)	p.P549S(1)	prostate(1)	breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						c.(1645-1647)Cca>Tca		adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 2							157	145	149					12																	105571030		2203	4300	6503	SO:0001583	missense	55198				cell cycle|cell proliferation|signal transduction	early endosome membrane|nucleus	protein binding	g.chr12:105571030G>A	AY113704	CCDS9101.1, CCDS58275.1, CCDS58276.1	12q23.3	2014-08-12			ENSG00000136044	ENSG00000136044		"Pleckstrin homology (PH) domain containing"	18242	protein-coding gene	gene with protein product		606231				11431708, 17030088	Standard	NM_001251904		Approved	FLJ10659, DIP13B	uc010swu.1	Q8NEU8	OTTHUMG00000169853	ENST00000258530.3:c.1645C>T	12.37:g.105571030G>A	ENSP00000258530:p.Pro549Ser					APPL2_ENST00000551662.1_Missense_Mutation_p.P555S|APPL2_ENST00000539978.2_Missense_Mutation_p.P506S	p.P549S	NM_001251904.1|NM_018171.3	NP_001238833.1|NP_060641.2	Q8NEU8	DP13B_HUMAN			18	1870	-			549			PID.		B3KXX9|H7BXI4|Q13861|Q14594|Q14662|Q71U10|Q7M4L3|Q9BT36	Missense_Mutation	SNP	ENST00000258530.3	37	c.1645C>T	CCDS9101.1	.	.	.	.	.	.	.	.	.	.	G	25.3	4.622571	0.87460	.	.	ENSG00000136044	ENST00000258530;ENST00000539978;ENST00000551662;ENST00000553109	T;T;T;T	0.19250	2.16;2.16;2.16;2.16	5.32	5.32	0.75619	Phosphotyrosine interaction domain (2);Pleckstrin homology-type (1);	0.000000	0.85682	D	0.000000	T	0.50718	0.1632	M	0.79258	2.445	0.80722	D	1	D;D;D	0.89917	0.996;1.0;0.993	P;D;P	0.87578	0.82;0.998;0.835	T	0.54892	-0.8225	10	0.87932	D	0	-13.789	18.9808	0.92755	0.0:0.0:1.0:0.0	.	555;506;549	F8W1P5;B7Z1Q8;Q8NEU8	.;.;DP13B_HUMAN	S	549;506;555;80	ENSP00000258530:P549S;ENSP00000444472:P506S;ENSP00000446917:P555S;ENSP00000446510:P80S	ENSP00000258530:P549S	P	-	1	0	APPL2	104095160	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.371000	0.66150	2.492000	0.84095	0.650000	0.86243	CCA		0.328	APPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406238.3	NM_018171		7	52	0	0	0	0.047766	0	7	52					A	105571030	G	A	105571030	3	1	157	1	0	0	0	0	1	0	0	0	818	1174	41	3	365	3	APPL2	12	105571030	Missense_Mutation	SNP	G	TCGA-G9-6348-01A-11D-1786-08		105571030	28280865	31	7635											
HERC2	8924	broad.mit.edu	37	chr15	28386775	28386775	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagagtccagtcatctggtcGcctacaatacacatcaagtg	12	9	9	11	1	3	1	2	0	1	1	5	2	4	1	2	1	2	0	2	1	4	2	rs149707599	byFrequency	TCGA-G9-6348-01A-11D-1786-08	TCGA-G9-6348-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	663c2f26-4e49-4752-bde5-fb5e9229daf9	e6ab50da-966a-4429-95c9-36e22d269e25	g.chr15:28386775G>A	ENST00000261609.7	-	78	11926	c.11818C>T	c.(11818-11820)Cga>Tga	p.R3940*		NM_004667.5	NP_004658.3			HECT and RLD domain containing E3 ubiquitin protein ligase 2									p.R3940*(2)		NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		TCATCTGGTCGCCTACAATAC	0.478																																						ENST00000261609.7																			2	Substitution - Nonsense(2)	p.R3940*(2)	prostate(2)	NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204						c.e78-1		HECT and RLD domain containing E3 ubiquitin protein ligase 2							110	107	108					15																	28386775		2203	4300	6503	SO:0001630	splice_region_variant	8924				DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr15:28386775G>A	AF071172	CCDS10021.1	15q13	2012-02-23	2012-02-23		ENSG00000128731	ENSG00000128731			4868	protein-coding gene	gene with protein product		605837	"hect domain and RLD 2"			9949213	Standard	NM_004667		Approved	jdf2, p528, D15F37S1	uc001zbj.4	O95714	OTTHUMG00000129251	ENST00000261609.7:c.11817-1C>T	15.37:g.28386775G>A							p.R3940_splice	NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)	78	11926	-		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)	3940						Splice_Site	SNP	ENST00000261609.7	37	c.11816_splice	CCDS10021.1	.	.	.	.	.	.	.	.	.	.	G	52	19.589338	0.99921	.	.	ENSG00000128731	ENST00000261609	.	.	.	5.69	1.49	0.22878	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.458	0.38767	0.0645:0.0:0.5784:0.3571	.	.	.	.	X	3940	.	ENSP00000261609:R3940X	R	-	1	2	HERC2	26060370	0.989000	0.36119	0.927000	0.36925	0.295000	0.27426	0.877000	0.28106	0.022000	0.15160	0.556000	0.70494	CGA		0.478	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251358.2	NM_004667	Nonsense_Mutation	29	119	0	0	0	0.030593	0	29	119					A	28386775	G	A	28386775	5	1	157	1	0	0	0	0	0	0	1	0	7058	1101	38	1	2750	1	HERC2	15	28386775	Splice_Site	SNP	G	TCGA-G9-6348-01A-11D-1786-08		28386775	74144617	32	7636											
CA12	771	broad.mit.edu	37	chr15	63632619	63632619	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggaagcagctcttcaatgttGaatcccgggacgaatgcttc	10	10	11	10	2	2	1	1	1	1	0	4	4	3	3	1	2	3	4	1	2	4	3			TCGA-G9-6348-01A-11D-1786-08	TCGA-G9-6348-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	663c2f26-4e49-4752-bde5-fb5e9229daf9	e6ab50da-966a-4429-95c9-36e22d269e25	g.chr15:63632619G>A	ENST00000178638.3	-	7	1055	c.615C>T	c.(613-615)ttC>ttT	p.F205F	CA12_ENST00000422263.2_Silent_p.F145F|CA12_ENST00000344366.3_Silent_p.F205F	NM_001218.3	NP_001209.1	O43570	CAH12_HUMAN	carbonic anhydrase XII	205					bicarbonate transport (GO:0015701)|one-carbon metabolic process (GO:0006730)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbonate dehydratase activity (GO:0004089)|zinc ion binding (GO:0008270)	p.F205F(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(2)	16					Benzthiazide(DB00562)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Zonisamide(DB00909)	CTTCAATGTTGAATCCCGGGA	0.562																																						ENST00000178638.3																			1	Substitution - coding silent(1)	p.F205F(1)	prostate(1)	breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(2)	16						c.(613-615)ttC>ttT		carbonic anhydrase XII	Acetazolamide(DB00819)						90	78	82					15																	63632619		2203	4300	6503	SO:0001819	synonymous_variant	771				one-carbon metabolic process	integral to membrane	carbonate dehydratase activity|zinc ion binding	g.chr15:63632619G>A	AF051882	CCDS10185.1, CCDS10186.1	15q22	2004-01-19			ENSG00000074410	ENSG00000074410		"Carbonic anhydrases"	1371	protein-coding gene	gene with protein product		603263				9636197	Standard	NM_001218		Approved	HsT18816	uc002amc.3	O43570	OTTHUMG00000132881	ENST00000178638.3:c.615C>T	15.37:g.63632619G>A						CA12_ENST00000422263.2_Silent_p.F145F|CA12_ENST00000344366.3_Silent_p.F205F	p.F205F	NM_001218.3	NP_001209.1	O43570	CAH12_HUMAN			7	1055	-			205					B2RE24|Q53YE5|Q9BWG2	Silent	SNP	ENST00000178638.3	37	c.615C>T	CCDS10185.1																																																																																				0.562	CA12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256370.1	NM_001218		5	58	0	0	0	0.021553	0	5	58					A	63632619	G	A	63632619	2	1	157	1	0	0	0	0	0	0	0	1	2513	1281	45	3		3	CA12	15	63632619	Silent	SNP	G	TCGA-G9-6348-01A-11D-1786-08	35245844	63632619	38898773	33	7637											
LRRC49	54839	broad.mit.edu	37	chr15	71329574	71329574	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aaaaaaacctggtattatcaAcgaagaaaataatgacagca	22	7	6	6	1	1	2	1	1	0	1	1	3	1	2	1	1	3	2	1	1	10	3			TCGA-G9-6348-01A-11D-1786-08	TCGA-G9-6348-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	663c2f26-4e49-4752-bde5-fb5e9229daf9	e6ab50da-966a-4429-95c9-36e22d269e25	g.chr15:71329574A>G	ENST00000260382.5	+	15	2020	c.1760A>G	c.(1759-1761)aAc>aGc	p.N587S	LRRC49_ENST00000560158.2_Missense_Mutation_p.N275S|LRRC49_ENST00000560691.1_Missense_Mutation_p.N293S|LRRC49_ENST00000443425.2_Missense_Mutation_p.N543S|LRRC49_ENST00000436542.2_3'UTR|LRRC49_ENST00000544974.2_Missense_Mutation_p.N577S|LRRC49_ENST00000560369.1_Missense_Mutation_p.N592S	NM_001199017.1|NM_017691.3	NP_001185946.1|NP_060161.2	Q8IUZ0	LRC49_HUMAN	leucine rich repeat containing 49	587						cytoplasm (GO:0005737)|microtubule (GO:0005874)		p.N587S(1)		breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(3)|skin(3)	34						GGTATTATCAACGAAGAAAAT	0.318																																						ENST00000260382.5																			1	Substitution - Missense(1)	p.N587S(1)	prostate(1)	breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(3)|skin(3)	34						c.(1759-1761)aAc>aGc		leucine rich repeat containing 49							85	93	91					15																	71329574		2199	4295	6494	SO:0001583	missense	54839					cytoplasm|microtubule		g.chr15:71329574A>G		CCDS32282.1, CCDS55971.1, CCDS58376.1, CCDS61694.1	15q23	2005-08-09				ENSG00000137821			25965	protein-coding gene	gene with protein product						12477932	Standard	NM_001199017		Approved	FLJ20156	uc010ukf.2	Q8IUZ0		ENST00000260382.5:c.1760A>G	15.37:g.71329574A>G	ENSP00000260382:p.Asn587Ser					LRRC49_ENST00000560691.1_Missense_Mutation_p.N293S|LRRC49_ENST00000436542.2_3'UTR|LRRC49_ENST00000443425.2_Missense_Mutation_p.N543S|LRRC49_ENST00000560369.1_Missense_Mutation_p.N592S|LRRC49_ENST00000544974.2_Missense_Mutation_p.N577S|LRRC49_ENST00000560158.2_Missense_Mutation_p.N275S	p.N587S	NM_001199017.1|NM_017691.3	NP_001185946.1|NP_060161.2	Q8IUZ0	LRC49_HUMAN			15	2020	+			587					B3KVX1|B7Z366|F5H1J4|G5E9T5|H0YLN4|Q9NXM6	Missense_Mutation	SNP	ENST00000260382.5	37	c.1760A>G	CCDS32282.1	.	.	.	.	.	.	.	.	.	.	A	0.837	-0.743241	0.03088	.	.	ENSG00000137821	ENST00000544974;ENST00000260382;ENST00000443425;ENST00000436542	T;T;T	0.33438	1.41;1.42;1.41	5.04	-6.24	0.02046	.	0.634375	0.17060	N	0.188588	T	0.11580	0.0282	N	0.03115	-0.41	0.09310	N	1	B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0	B;B;B;B;B	0.04013	0.0;0.0;0.001;0.0;0.0	T	0.19943	-1.0290	10	0.13470	T	0.59	-0.4476	17.7229	0.88357	0.2339:0.0:0.7661:0.0	.	592;559;543;587;577	B7Z366;G5E9Q1;G5E9T5;Q8IUZ0;F5H1J4	.;.;.;LRC49_HUMAN;.	S	577;587;543;559	ENSP00000439600:N577S;ENSP00000260382:N587S;ENSP00000414065:N543S	ENSP00000260382:N587S	N	+	2	0	LRRC49	69116628	0.100000	0.21855	0.026000	0.17262	0.927000	0.56198	-0.553000	0.06012	-1.105000	0.03011	0.533000	0.62120	AAC		0.318	LRRC49-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417209.3	NM_017691		4	114	0	0	0	0.009096	0	4	114					G	71329574	A	G	71329574	3	3	157	1	0	0	0	0	1	0	0	0	9006	43	2	4	1818	4	LRRC49	15	71329574	Missense_Mutation	SNP	A	TCGA-G9-6348-01A-11D-1786-08	7696955	71329574	31201818	34	7638											
IRX5	10265	broad.mit.edu	37	chr16	54966502	54966502	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgtacccttacggggacccAgcgtaccggaagaacgccac	10	5	11	15	5	0	1	0	0	0	1	1	3	0	3	4	3	5	2	4	3	5	3			TCGA-G9-6348-01A-11D-1786-08	TCGA-G9-6348-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	663c2f26-4e49-4752-bde5-fb5e9229daf9	e6ab50da-966a-4429-95c9-36e22d269e25	g.chr16:54966502A>G	ENST00000394636.4	+	2	679	c.342A>G	c.(340-342)ccA>ccG	p.P114P	IRX5_ENST00000320990.5_Silent_p.P114P|CTD-3032H12.2_ENST00000560487.1_lincRNA|IRX5_ENST00000560154.1_Intron|IRX5_ENST00000558597.1_Silent_p.P48P			P78411	IRX5_HUMAN	iroquois homeobox 5	114					embryonic cranial skeleton morphogenesis (GO:0048701)|gonad development (GO:0008406)|neuron maturation (GO:0042551)|regulation of heart rate (GO:0002027)|regulation of transcription, DNA-templated (GO:0006355)|response to stimulus (GO:0050896)|retinal bipolar neuron differentiation (GO:0060040)|transcription, DNA-templated (GO:0006351)|visual perception (GO:0007601)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|vitamin D binding (GO:0005499)	p.P114P(1)		kidney(3)|large_intestine(6)|lung(4)|prostate(1)	14						ACGGGGACCCAGCGTACCGGA	0.657																																						ENST00000394636.4																			1	Substitution - coding silent(1)	p.P114P(1)	prostate(1)	kidney(3)|large_intestine(6)|lung(4)|prostate(1)	14						c.(340-342)ccA>ccG		iroquois homeobox 5							102	86	92					16																	54966502		2198	4300	6498	SO:0001819	synonymous_variant	10265				response to stimulus|visual perception	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|vitamin D binding	g.chr16:54966502A>G	U90309	CCDS10751.1, CCDS58462.1	16q12.2	2011-06-20	2007-07-13		ENSG00000176842	ENSG00000176842		"Homeoboxes / TALE class"	14361	protein-coding gene	gene with protein product		606195					Standard	NM_005853		Approved	IRX-2a	uc002ehv.3	P78411	OTTHUMG00000133201	ENST00000394636.4:c.342A>G	16.37:g.54966502A>G						IRX5_ENST00000558597.1_Silent_p.P48P|IRX5_ENST00000560154.1_Intron|IRX5_ENST00000320990.5_Silent_p.P114P	p.P114P			P78411	IRX5_HUMAN			2	679	+			114					H0YMS7|P78416|Q7Z2E1	Silent	SNP	ENST00000394636.4	37	c.342A>G	CCDS10751.1																																																																																				0.657	IRX5-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256911.2			17	81	0	0	0	0.0333	0	17	81					G	54966502	A	G	54966502	2	3	157	1	0	0	0	0	0	0	0	1	7847	175	7	4		4	IRX5	16	54966502	Silent	SNP	A	TCGA-G9-6348-01A-11D-1786-08		54966502	35388251	35	7639											
DNAH2	146754	broad.mit.edu	37	chr17	7690227	7690227	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctactcagatgagaaacccgAcgagaagtggatcctgttcg	12	8	11	10	3	1	3	1	1	0	3	3	7	2	4	2	1	2	1	2	1	3	2			TCGA-G9-6348-01A-11D-1786-08	TCGA-G9-6348-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	663c2f26-4e49-4752-bde5-fb5e9229daf9	e6ab50da-966a-4429-95c9-36e22d269e25	g.chr17:7690227A>T	ENST00000572933.1	+	42	7939	c.6479A>T	c.(6478-6480)gAc>gTc	p.D2160V	DNAH2_ENST00000389173.2_Missense_Mutation_p.D2160V			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	2160	AAA 2. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.D2160V(1)		NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				GAGAAACCCGACGAGAAGTGG	0.567																																						ENST00000572933.1																			1	Substitution - Missense(1)	p.D2160V(1)	prostate(1)	NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189						c.(6478-6480)gAc>gTc		dynein, axonemal, heavy chain 2							82	58	66					17																	7690227		2203	4300	6503	SO:0001583	missense	146754				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:7690227A>T	U83570, AK128517	CCDS32551.1	17p13.1	2007-10-05	2006-09-04			ENSG00000183914		"Axonemal dyneins"	2948	protein-coding gene	gene with protein product		603333	"dynein, axonemal, heavy polypeptide 2", "dynein heavy chain domain 3"	DNHD3		9256245	Standard	XM_005256470		Approved	KIAA1503, FLJ46675	uc002giu.1	Q9P225		ENST00000572933.1:c.6479A>T	17.37:g.7690227A>T	ENSP00000458355:p.Asp2160Val					DNAH2_ENST00000389173.2_Missense_Mutation_p.D2160V	p.D2160V			Q9P225	DYH2_HUMAN			42	7939	+		all_cancers(10;4.66e-07)|Prostate(122;0.081)	2160			AAA 2 (By similarity).		A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	Missense_Mutation	SNP	ENST00000572933.1	37	c.6479A>T	CCDS32551.1	.	.	.	.	.	.	.	.	.	.	A	23.4	4.407497	0.83340	.	.	ENSG00000183914	ENST00000360606;ENST00000389173	D	0.87887	-2.31	5.05	5.05	0.67936	ATPase, dynein-related, AAA domain (1);	0.184903	0.45361	D	0.000368	D	0.91005	0.7171	L	0.60957	1.885	0.80722	D	1	D	0.63880	0.993	D	0.63597	0.916	D	0.91853	0.5493	10	0.72032	D	0.01	.	13.9099	0.63860	1.0:0.0:0.0:0.0	.	2160	Q9P225	DYH2_HUMAN	V	2160	ENSP00000373825:D2160V	ENSP00000353818:D2160V	D	+	2	0	DNAH2	7630952	1.000000	0.71417	0.955000	0.39395	0.806000	0.45545	8.376000	0.90138	2.114000	0.64651	0.467000	0.42956	GAC		0.567	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440241.1	NM_020877		11	45	0	0	0	0.105934	0	11	45					T	7690227	A	T	7690227	3	4	157	1	0	0	0	0	1	0	0	0	4602	275	10	5	6641	5	DNAH2	17	7690227	Missense_Mutation	SNP	A	TCGA-G9-6348-01A-11D-1786-08		7690227	73504983	36	7640											
MYH4	4622	broad.mit.edu	37	chr17	10355525	10355525	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgggctgaagtggccccaccGgcttcttccagcctctcact	5	10	10	16	1	2	1	1	1	2	0	4	1	3	1	5	3	1	2	5	3	1	2			TCGA-G9-6348-01A-11D-1786-08	TCGA-G9-6348-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	663c2f26-4e49-4752-bde5-fb5e9229daf9	e6ab50da-966a-4429-95c9-36e22d269e25	g.chr17:10355525G>A	ENST00000255381.2	-	27	3581	c.3471C>T	c.(3469-3471)gcC>gcT	p.A1157A	RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA|CTC-297N7.11_ENST00000587182.2_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	1157					actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|membrane organization (GO:0061024)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|response to activity (GO:0014823)	muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|microfilament motor activity (GO:0000146)	p.A1157A(1)		NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						TGGCCCCACCGGCTTCTTCCA	0.607																																						ENST00000255381.2																			1	Substitution - coding silent(1)	p.A1157A(1)	prostate(1)	NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						c.(3469-3471)gcC>gcT		myosin, heavy chain 4, skeletal muscle							80	89	86					17																	10355525		2203	4300	6503	SO:0001819	synonymous_variant	4622				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr17:10355525G>A		CCDS11154.1	17p13.1	2013-09-19	2006-09-29		ENSG00000264424	ENSG00000264424		"Myosins / Myosin superfamily : Class II"	7574	protein-coding gene	gene with protein product		160742	"myosin, heavy polypeptide 4, skeletal muscle"			8518795	Standard	NM_017533		Approved	MYH2B, MyHC-2B, MyHC-IIb	uc002gmn.3	Q9Y623	OTTHUMG00000130365	ENST00000255381.2:c.3471C>T	17.37:g.10355525G>A						CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	p.A1157A	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN			27	3581	-			1157						Silent	SNP	ENST00000255381.2	37	c.3471C>T	CCDS11154.1																																																																																				0.607	MYH4-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252731.1	NM_017533		34	125	0	0	0	0.064281	0	34	125					A	10355525	G	A	10355525	2	1	157	1	0	0	0	0	0	0	0	1	10037	1103	39	2		2	MYH4	17	10355525	Silent	SNP	G	TCGA-G9-6348-01A-11D-1786-08	2665298	10355525	70839685	37	7641											
ATXN7L3	56970	broad.mit.edu	37	chr17	42274671	42274671	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ggggagcaaagcgggaggcgGcaatgctgcgactgcaattg	10	5	18	8	3	0	0	0	0	0	0	0	3	0	2	0	5	5	4	0	5	3	1			TCGA-G9-6348-01A-11D-1786-08	TCGA-G9-6348-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	663c2f26-4e49-4752-bde5-fb5e9229daf9	e6ab50da-966a-4429-95c9-36e22d269e25	g.chr17:42274671G>A	ENST00000454077.2	-	3	280	c.281C>T	c.(280-282)gCc>gTc	p.A94V	ATXN7L3_ENST00000389384.4_Missense_Mutation_p.A94V|CTB-175E5.7_ENST00000586560.1_RNA|ATXN7L3_ENST00000593073.1_Intron	NM_020218.1	NP_064603.1			ataxin 7-like 3											kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(2)	12		Breast(137;0.00765)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.113)		GCGGGAGGCGGCAATGCTGCG	0.597																																						ENST00000389384.4																			0				kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(2)	12						c.(280-282)gCc>gTc		ataxin 7-like 3							83	96	92					17																	42274671		2047	4190	6237	SO:0001583	missense	56970				histone deubiquitination|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	SAGA complex	ligand-dependent nuclear receptor transcription coactivator activity|metal ion binding|protein binding	g.chr17:42274671G>A	AK056002	CCDS42345.1, CCDS45697.1	17q21	2010-03-10			ENSG00000087152	ENSG00000087152			25416	protein-coding gene	gene with protein product						15115762	Standard	NM_001098833		Approved	DKFZp761G2113	uc002ifz.3	Q14CW9		ENST00000454077.2:c.281C>T	17.37:g.42274671G>A	ENSP00000397259:p.Ala94Val					ATXN7L3_ENST00000454077.2_Missense_Mutation_p.A94V|ATXN7L3_ENST00000593073.1_Intron	p.A94V	NM_001098833.1	NP_001092303.1	Q14CW9	AT7L3_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.113)	3	589	-		Breast(137;0.00765)|Prostate(33;0.0181)	94						Missense_Mutation	SNP	ENST00000454077.2	37	c.281C>T	CCDS45697.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.333869	0.81801	.	.	ENSG00000087152	ENST00000454077;ENST00000389384	.	.	.	4.75	4.75	0.60458	.	0.000000	0.64402	D	0.000001	T	0.76183	0.3952	M	0.74258	2.255	0.58432	D	0.999997	D;D	0.64830	0.975;0.994	P;P	0.60789	0.85;0.879	T	0.78145	-0.2318	9	0.46703	T	0.11	.	16.5408	0.84384	0.0:0.0:1.0:0.0	.	94;94	Q14CW9;Q14CW9-2	AT7L3_HUMAN;.	V	94	.	ENSP00000374035:A94V	A	-	2	0	ATXN7L3	39630197	1.000000	0.71417	0.927000	0.36925	0.902000	0.53008	9.086000	0.94088	2.192000	0.70111	0.655000	0.94253	GCC		0.597	ATXN7L3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000457724.1			4	139	0	0	0	0.014758	0	4	139					A	42274671	G	A	42274671	3	1	157	1	0	0	0	0	1	0	0	0	1218	1203	42	3	823	3	ATXN7L3	17	42274671	Missense_Mutation	SNP	G	TCGA-G9-6348-01A-11D-1786-08	31919146	42274671	38920539	38	7642											
SLC4A1	6521	broad.mit.edu	37	chr17	42333173	42333173	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggtttgggcaccatcaacacGttgtagttataagtcttctg	9	14	10	8	1	3	0	1	0	2	0	3	0	3	0	1	2	1	5	1	2	4	6			TCGA-G9-6348-01A-11D-1786-08	TCGA-G9-6348-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	663c2f26-4e49-4752-bde5-fb5e9229daf9	e6ab50da-966a-4429-95c9-36e22d269e25	g.chr17:42333173G>A	ENST00000262418.6	-	14	1823	c.1668C>T	c.(1666-1668)aaC>aaT	p.N556N	AC003043.1_ENST00000597382.1_5'Flank	NM_000342.3	NP_000333.1	P02730	B3AT_HUMAN	solute carrier family 4 (anion exchanger), member 1 (Diego blood group)	556	Membrane (anion exchange).				anion transport (GO:0006820)|bicarbonate transport (GO:0015701)|cellular ion homeostasis (GO:0006873)|chloride transport (GO:0006821)|ion transport (GO:0006811)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|blood microparticle (GO:0072562)|cortical cytoskeleton (GO:0030863)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|Z disc (GO:0030018)	anion transmembrane transporter activity (GO:0008509)|anion:anion antiporter activity (GO:0015301)|ankyrin binding (GO:0030506)|bicarbonate transmembrane transporter activity (GO:0015106)|chloride transmembrane transporter activity (GO:0015108)|inorganic anion exchanger activity (GO:0005452)|protein anchor (GO:0043495)|protein homodimerization activity (GO:0042803)	p.N556N(1)		central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	40		Breast(137;0.014)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.115)		CCATCAACACGTTGTAGTTAT	0.532																																						ENST00000262418.6																			1	Substitution - coding silent(1)	p.N556N(1)	prostate(1)	central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	40						c.(1666-1668)aaC>aaT		solute carrier family 4 (anion exchanger), member 1							196	186	189					17																	42333173		2203	4300	6503	SO:0001819	synonymous_variant	6521				bicarbonate transport|cellular ion homeostasis	basolateral plasma membrane|cortical cytoskeleton|integral to plasma membrane|Z disc	ankyrin binding|chloride transmembrane transporter activity|inorganic anion exchanger activity|protein anchor|protein homodimerization activity	g.chr17:42333173G>A		CCDS11481.1	17q21.31	2014-07-19	2014-01-02		ENSG00000004939	ENSG00000004939		"CD molecules", "Blood group antigens", "Solute carriers"	11027	protein-coding gene	gene with protein product	"Froese blood group", "Swann blood group", "Wright blood group"	109270	"Waldner blood group", "erythrocyte membrane protein band 3", "Diego blood group", "solute carrier family 4, anion exchanger, member 1 (erythrocyte membrane protein band 3, Diego blood group)", "solute carrier family 4 (anion exchanger), member 1"	EPB3, AE1, DI, WD		8434259	Standard	NM_000342		Approved	RTA1A, CD233, FR, SW, WR	uc002igf.4	P02730	OTTHUMG00000156843	ENST00000262418.6:c.1668C>T	17.37:g.42333173G>A							p.N556N	NM_000342.3	NP_000333.1	P02730	B3AT_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.115)	14	1823	-		Breast(137;0.014)|Prostate(33;0.0181)	556			Membrane (anion exchange).		G4V2I6|P78487|Q1ZZ45|Q4KKW9|Q4VB84|Q9UCY7|Q9UDJ1	Silent	SNP	ENST00000262418.6	37	c.1668C>T	CCDS11481.1																																																																																				0.532	SLC4A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346194.1	NM_000342		25	131	0	0	0	0.034045	0	25	131					A	42333173	G	A	42333173	2	1	157	1	0	0	0	0	0	0	0	1	14650	1136	40	1		1	SLC4A1	17	42333173	Silent	SNP	G	TCGA-G9-6348-01A-11D-1786-08	58502	42333173	38862037	39	7643											
HOXB3	3213	broad.mit.edu	37	chr17	46628435	46628435	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccgcgcccgcttggacgccGccgaccccggggggctcttg	2	6	15	18	7	1	0	0	0	1	0	2	2	2	1	6	4	0	2	6	4	0	2	rs574439147	byFrequency	TCGA-G9-6348-01A-11D-1786-08	TCGA-G9-6348-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	663c2f26-4e49-4752-bde5-fb5e9229daf9	e6ab50da-966a-4429-95c9-36e22d269e25	g.chr17:46628435G>T	ENST00000470495.1	-	2	2004	c.557C>A	c.(556-558)gCg>gAg	p.A186E	HOXB-AS3_ENST00000465846.2_RNA|HOXB3_ENST00000460160.1_Missense_Mutation_p.A54E|HOXB3_ENST00000476342.1_Missense_Mutation_p.A186E|HOXB-AS1_ENST00000502764.2_RNA|HOXB3_ENST00000498678.1_Missense_Mutation_p.A186E|HOXB3_ENST00000472863.1_Missense_Mutation_p.A113E|HOXB-AS1_ENST00000435312.1_RNA|HOXB3_ENST00000311626.4_Missense_Mutation_p.A186E|HOXB3_ENST00000489475.1_Missense_Mutation_p.A113E|HOXB3_ENST00000490677.1_Missense_Mutation_p.A52E|HOXB3_ENST00000485909.2_Missense_Mutation_p.A54E|HOXB-AS1_ENST00000508688.1_RNA			P14651	HXB3_HUMAN	homeobox B3	186					angiogenesis (GO:0001525)|anterior/posterior pattern specification (GO:0009952)|cartilage development (GO:0051216)|definitive hemopoiesis (GO:0060216)|embryonic skeletal system morphogenesis (GO:0048704)|face development (GO:0060324)|glossopharyngeal nerve morphogenesis (GO:0021615)|hematopoietic progenitor cell differentiation (GO:0002244)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of neurogenesis (GO:0050767)|rhombomere development (GO:0021546)|thyroid gland development (GO:0030878)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.A186E(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(16)|prostate(4)|upper_aerodigestive_tract(1)	30						CTTGGACGCCGCCGACCCCGG	0.751																																						ENST00000470495.1																			1	Substitution - Missense(1)	p.A186E(1)	prostate(1)	breast(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(16)|prostate(4)|upper_aerodigestive_tract(1)	30						c.(556-558)gCg>gAg		homeobox B3							26	29	28					17																	46628435		2202	4298	6500	SO:0001583	missense	3213				angiogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr17:46628435G>T		CCDS11528.1	17q21.32	2011-06-20	2005-12-22		ENSG00000120093	ENSG00000120093		"Homeoboxes / ANTP class : HOXL subclass"	5114	protein-coding gene	gene with protein product		142966	"homeo box B3"	HOX2, HOX2G		1973146, 1358459	Standard	XM_006721854		Approved		uc002ino.3	P14651	OTTHUMG00000159922	ENST00000470495.1:c.557C>A	17.37:g.46628435G>T	ENSP00000417207:p.Ala186Glu					HOXB3_ENST00000311626.4_Missense_Mutation_p.A186E|HOXB-AS1_ENST00000502764.2_RNA|HOXB-AS1_ENST00000508688.1_RNA|HOXB3_ENST00000490677.1_Missense_Mutation_p.A52E|HOXB3_ENST00000498678.1_Missense_Mutation_p.A186E|HOXB3_ENST00000476342.1_Missense_Mutation_p.A186E|HOXB3_ENST00000472863.1_Missense_Mutation_p.A113E|HOXB3_ENST00000460160.1_Missense_Mutation_p.A54E|HOXB3_ENST00000489475.1_Missense_Mutation_p.A113E|HOXB-AS1_ENST00000435312.1_RNA|HOXB3_ENST00000485909.2_Missense_Mutation_p.A54E|HOXB-AS3_ENST00000465846.2_RNA	p.A186E			P14651	HXB3_HUMAN			2	2004	-			186					A8K567|B7Z5N8|B7Z5P8|B7ZAD0|D3DTV3|O95615|P17484	Missense_Mutation	SNP	ENST00000470495.1	37	c.557C>A	CCDS11528.1	.	.	.	.	.	.	.	.	.	.	G	16.62	3.174477	0.57692	.	.	ENSG00000120093	ENST00000470495;ENST00000472863;ENST00000311626;ENST00000498678;ENST00000490677;ENST00000460160;ENST00000485909;ENST00000489475;ENST00000476342	D;D;D;D;T;D;D;D;D	0.85861	-2.04;-2.04;-2.04;-2.04;-0.93;-1.55;-1.55;-2.04;-2.04	4.09	3.09	0.35607	Homeodomain-related (1);Homeobox (1);	0.199562	0.43260	D	0.000584	T	0.80237	0.4586	L	0.46819	1.47	0.80722	D	1	B	0.09022	0.002	B	0.06405	0.002	T	0.76323	-0.3001	10	0.46703	T	0.11	.	13.3674	0.60692	0.0:0.0:0.8412:0.1588	.	186	P14651	HXB3_HUMAN	E	186;113;186;186;52;54;54;113;186	ENSP00000417207:A186E;ENSP00000419676:A113E;ENSP00000308252:A186E;ENSP00000420595:A186E;ENSP00000449977:A52E;ENSP00000418035:A54E;ENSP00000438747:A54E;ENSP00000418729:A113E;ENSP00000418892:A186E	ENSP00000308252:A186E	A	-	2	0	HOXB3	43983434	0.997000	0.39634	0.983000	0.44433	0.977000	0.68977	8.212000	0.89756	1.042000	0.40150	0.655000	0.94253	GCG		0.751	HOXB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358261.1			9	56	1	0	2.74318e-10	0.058154	3.41694e-10	9	56					T	46628435	G	T	46628435	3	4	157	1	0	0	0	0	1	0	0	0	7302	1087	38	5	742	5	HOXB3	17	46628435	Missense_Mutation	SNP	G	TCGA-G9-6348-01A-11D-1786-08	4295262	46628435	34566775	40	7644											
VEZF1	7716	broad.mit.edu	37	chr17	56060635	56060635	+	Frame_Shift_Del	DEL	T	T	-																															gtttctggtgcaccctgaggTttctgagttattggtattgg																										TCGA-G9-6348-01A-11D-1786-08	TCGA-G9-6348-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	663c2f26-4e49-4752-bde5-fb5e9229daf9	e6ab50da-966a-4429-95c9-36e22d269e25	g.chr17:56060635delT	ENST00000581208.1	-	2	193	c.153delA	c.(151-153)aaafs	p.K51fs	VEZF1_ENST00000584396.1_Frame_Shift_Del_p.K42fs	NM_007146.2	NP_009077.2	Q14119	VEZF1_HUMAN	vascular endothelial zinc finger 1	51					angiogenesis (GO:0001525)|cellular defense response (GO:0006968)|endothelial cell development (GO:0001885)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(1)|kidney(2)|lung(5)|ovary(1)	10						CACCCTGAGGTTTCTGAGTTA	0.473																																						ENST00000584396.1																			0				breast(1)|endometrium(1)|kidney(2)|lung(5)|ovary(1)	10						c.(124-126)aafs		vascular endothelial zinc finger 1							121	126	124					17																	56060635		2203	4300	6503	SO:0001589	frameshift_variant	7716				cellular defense response|regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding	g.chr17:56060635delT	D28118	CCDS32687.1	17q22	2012-10-05	2006-08-16	2006-08-16	ENSG00000136451	ENSG00000136451		"Zinc fingers, C2H2-type"	12949	protein-coding gene	gene with protein product		606747	"zinc finger protein 161"	ZNF161		8035792	Standard	XM_005257643		Approved	DB1	uc002ivf.1	Q14119	OTTHUMG00000178777	ENST00000581208.1:c.153delA	17.37:g.56060635delT	ENSP00000462337:p.Lys51fs					VEZF1_ENST00000581208.1_Frame_Shift_Del_p.K51fs	p.K42fs			Q14119	VEZF1_HUMAN			2	214	-			51						Frame_Shift_Del	DEL	ENST00000581208.1	37	c.126delA	CCDS32687.1																																																																																				0.473	VEZF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000443321.1			7	212						7	212	---	---	---	---	-	56060635	T	-	56060635	7	5	157	1	0	1	0	1	0	0	0	0	17152	1722	60	0	1432	0	VEZF1	17	56060635	Frame_Shift_Del	DEL	T	TCGA-G9-6348-01A-11D-1786-08	9432200	56060635	25134575	41	7645											
CSH2	1443	broad.mit.edu	37	chr17	61949662	61949662	+	Missense_Mutation	SNP	G	G	C																															cttgaggatctgcccagtccGgcggctgccgtcttccagcc																								rs184890744	byFrequency	TCGA-G9-6348-01A-11D-1786-08	TCGA-G9-6348-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	663c2f26-4e49-4752-bde5-fb5e9229daf9	e6ab50da-966a-4429-95c9-36e22d269e25	g.chr17:61949662G>C	ENST00000392886.2	-	5	629	c.478C>G	c.(478-480)Cgg>Ggg	p.R160G	CSH2_ENST00000560142.1_Missense_Mutation_p.R103G|CSH2_ENST00000336844.5_3'UTR|CSH2_ENST00000345366.7_Missense_Mutation_p.R65G	NM_020991.3	NP_066271.1	P0DML3	CSH2_HUMAN	chorionic somatomammotropin hormone 2	160						extracellular region (GO:0005576)	metal ion binding (GO:0046872)	p.R160G(1)		endometrium(2)|large_intestine(1)|lung(3)	6						TGCCCAGTCCGGCGGCTGCCG	0.547																																						ENST00000392886.2																			1	Substitution - Missense(1)	p.R160G(1)	prostate(1)	endometrium(2)|large_intestine(1)|lung(3)	6						c.(478-480)Cgg>Ggg		chorionic somatomammotropin hormone 2							82	85	84					17																	61949662		2203	4297	6500	SO:0001583	missense	1443				female pregnancy|signal transduction	extracellular region	hormone activity|metal ion binding	g.chr17:61949662G>C	V00573	CCDS11646.1, CCDS42368.1, CCDS42369.1	17q22-q24	2012-10-02							2441	protein-coding gene	gene with protein product	"placental lactogen", "chorionic somatomammotropin B"	118820				593368, 6208192	Standard	NM_020991		Approved	hCS-B, CSB, CS-2	uc002jch.3	P0DML3		ENST00000392886.2:c.478C>G	17.37:g.61949662G>C	ENSP00000376623:p.Arg160Gly					CSH2_ENST00000345366.7_Missense_Mutation_p.R65G|CSH2_ENST00000336844.5_3'UTR|CSH2_ENST00000560142.1_Missense_Mutation_p.R103G	p.R160G	NM_020991.3	NP_066271.1	P01243	CSH_HUMAN			5	629	-			160					P01243|Q0VDB1|Q14407	Missense_Mutation	SNP	ENST00000392886.2	37	c.478C>G	CCDS42369.1	.	.	.	.	.	.	.	.	.	.	N	6.487	0.458034	0.12342	.	.	ENSG00000213218	ENST00000345366;ENST00000392886	D;D	0.89123	-2.47;-2.33	3.97	2.91	0.33838	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	1.044430	0.07596	N	0.922891	D	0.91962	0.7454	M	0.84948	2.725	0.34397	D	0.694826	B;B;P	0.43024	0.054;0.054;0.798	B;B;P	0.45881	0.022;0.022;0.496	D	0.91672	0.5351	10	0.59425	D	0.04	.	12.5718	0.56341	0.0:0.0:0.8218:0.1782	.	160;160;65	P01243;A8K6C2;B1A4H9	CSH_HUMAN;.;.	G	65;160	ENSP00000308396:R65G;ENSP00000376623:R160G	ENSP00000308396:R65G	R	-	1	2	CSH2	59303394	0.033000	0.19621	0.970000	0.41538	0.006000	0.05464	1.501000	0.35693	2.033000	0.60031	0.462000	0.41574	CGG		0.547	CSH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417657.1	NM_020991		28	124	0	0	0	0.041601	0	28	124					C	61949662	G	C	61949662	3	2	157	1	0	0	0	0	1	0	0	0	3941	1115	39	5	179	5	CSH2	17	61949662	Missense_Mutation	SNP	G	TCGA-G9-6348-01A-11D-1786-08	5889027	61949662	19245548	42	7646	45	2									
CSH2	1443	broad.mit.edu	37	chr17	61949663	61949663	+	Silent	SNP	G	G	A																															ttgaggatctgcccagtccgGcggctgccgtcttccagcct																										TCGA-G9-6348-01A-11D-1786-08	TCGA-G9-6348-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	663c2f26-4e49-4752-bde5-fb5e9229daf9	e6ab50da-966a-4429-95c9-36e22d269e25	g.chr17:61949663G>A	ENST00000392886.2	-	5	628	c.477C>T	c.(475-477)cgC>cgT	p.R159R	CSH2_ENST00000560142.1_Silent_p.R102R|CSH2_ENST00000336844.5_3'UTR|CSH2_ENST00000345366.7_Silent_p.R64R	NM_020991.3	NP_066271.1	P0DML3	CSH2_HUMAN	chorionic somatomammotropin hormone 2	159						extracellular region (GO:0005576)	metal ion binding (GO:0046872)	p.R159R(1)		endometrium(2)|large_intestine(1)|lung(3)	6						GCCCAGTCCGGCGGCTGCCGT	0.547																																						ENST00000392886.2																			1	Substitution - coding silent(1)	p.R159R(1)	prostate(1)	endometrium(2)|large_intestine(1)|lung(3)	6						c.(475-477)cgC>cgT		chorionic somatomammotropin hormone 2							79	82	81					17																	61949663		2203	4297	6500	SO:0001819	synonymous_variant	1443				female pregnancy|signal transduction	extracellular region	hormone activity|metal ion binding	g.chr17:61949663G>A	V00573	CCDS11646.1, CCDS42368.1, CCDS42369.1	17q22-q24	2012-10-02							2441	protein-coding gene	gene with protein product	"placental lactogen", "chorionic somatomammotropin B"	118820				593368, 6208192	Standard	NM_020991		Approved	hCS-B, CSB, CS-2	uc002jch.3	P0DML3		ENST00000392886.2:c.477C>T	17.37:g.61949663G>A						CSH2_ENST00000345366.7_Silent_p.R64R|CSH2_ENST00000336844.5_3'UTR|CSH2_ENST00000560142.1_Silent_p.R102R	p.R159R	NM_020991.3	NP_066271.1	P01243	CSH_HUMAN			5	628	-			159					P01243|Q0VDB1|Q14407	Silent	SNP	ENST00000392886.2	37	c.477C>T	CCDS42369.1																																																																																				0.547	CSH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417657.1	NM_020991		27	119	0	0	0	0.037714	0	27	119					A	61949663	G	A	61949663	2	1	157	1	0	0	0	0	0	0	0	1	3941	1190	42	3		3	CSH2	17	61949663	Silent	SNP	G	TCGA-G9-6348-01A-11D-1786-08	1	61949663	19245547	43	7647	45	2									
DSG2	1829	broad.mit.edu	37	chr18	29099853	29099853	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cctggatcaccgcccccgtgGctcttcgggagggagaggat	6	7	15	13	3	2	1	1	0	1	1	3	5	2	4	4	5	0	1	4	5	0	1			TCGA-G9-6348-01A-11D-1786-08	TCGA-G9-6348-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	663c2f26-4e49-4752-bde5-fb5e9229daf9	e6ab50da-966a-4429-95c9-36e22d269e25	g.chr18:29099853G>A	ENST00000261590.8	+	3	378	c.169G>A	c.(169-171)Gct>Act	p.A57T	DSG2_ENST00000585206.1_Missense_Mutation_p.A57T	NM_001943.3	NP_001934.2	Q14126	DSG2_HUMAN	desmoglein 2	57	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				apoptotic process (GO:0006915)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cell adhesion (GO:0007155)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|homophilic cell adhesion (GO:0007156)|maternal process involved in female pregnancy (GO:0060135)|regulation of heart rate by cardiac conduction (GO:0086091)|response to progesterone (GO:0032570)|ventricular cardiac muscle cell action potential (GO:0086005)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.A57T(1)		breast(2)|central_nervous_system(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(2)|prostate(4)|skin(2)|urinary_tract(1)	49			OV - Ovarian serous cystadenocarcinoma(10;0.0068)			CGCCCCCGTGGCTCTTCGGGA	0.453																																						ENST00000261590.8																			1	Substitution - Missense(1)	p.A57T(1)	prostate(1)	breast(2)|central_nervous_system(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(2)|prostate(4)|skin(2)|urinary_tract(1)	49						c.(169-171)Gct>Act		desmoglein 2							69	71	70					18																	29099853		1885	4110	5995	SO:0001583	missense	1829				cellular component disassembly involved in apoptosis|homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding	g.chr18:29099853G>A	Z26317	CCDS42423.1	18q12.1	2014-09-17				ENSG00000046604		"Cadherins / Major cadherins"	3049	protein-coding gene	gene with protein product		125671				1612610	Standard	NM_001943		Approved	CDHF5	uc002kwu.4	Q14126		ENST00000261590.8:c.169G>A	18.37:g.29099853G>A	ENSP00000261590:p.Ala57Thr					DSG2_ENST00000585206.1_Missense_Mutation_p.A57T	p.A57T	NM_001943.3	NP_001934.2	Q14126	DSG2_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.0068)		3	378	+			57			Cadherin 1.		Q4KKU6	Missense_Mutation	SNP	ENST00000261590.8	37	c.169G>A	CCDS42423.1	.	.	.	.	.	.	.	.	.	.	G	11.93	1.784784	0.31593	.	.	ENSG00000046604	ENST00000261590	T	0.59083	0.29	5.21	-2.87	0.05700	Cadherin-like (1);	0.426837	0.16837	U	0.197512	T	0.21590	0.0520	N	0.03999	-0.3	0.09310	N	1	B	0.11235	0.004	B	0.06405	0.002	T	0.30822	-0.9965	10	0.02654	T	1	.	4.6851	0.12754	0.3977:0.0:0.3116:0.2907	.	57	Q14126	DSG2_HUMAN	T	57	ENSP00000261590:A57T	ENSP00000261590:A57T	A	+	1	0	DSG2	27353851	0.020000	0.18652	0.061000	0.19648	0.929000	0.56500	-0.343000	0.07791	-0.225000	0.09913	0.561000	0.74099	GCT		0.453	DSG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447506.1	NM_001943		15	70	0	0	0	0.043863	0	15	70					A	29099853	G	A	29099853	3	1	157	1	0	0	0	0	1	0	0	0	4777	1203	42	3	179	3	DSG2	18	29099853	Missense_Mutation	SNP	G	TCGA-G9-6348-01A-11D-1786-08		29099853	48977395	44	7648											
ZNF333	84449	broad.mit.edu	37	chr19	14829233	14829251	+	Frame_Shift_Del	DEL	CCTATGCATGTAACAAATG	CCTATGCATGTAACAAATG	-																															aatccgtagtggggataaatCctatgcatgtaacaaatgtg																								rs376718643		TCGA-G9-6348-01A-11D-1786-08	TCGA-G9-6348-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	663c2f26-4e49-4752-bde5-fb5e9229daf9	e6ab50da-966a-4429-95c9-36e22d269e25	g.chr19:14829233_14829251delCCTATGCATGTAACAAATG	ENST00000292530.6	+	12	1185_1203	c.1094_1112delCCTATGCATGTAACAAATG	c.(1093-1113)tcctatgcatgtaacaaatgtfs	p.SYACNKC365fs	ZNF333_ENST00000536363.1_Frame_Shift_Del_p.SYACNKC256fs|ZNF333_ENST00000540689.2_Intron	NM_032433.2	NP_115809.1	Q96JL9	ZN333_HUMAN	zinc finger protein 333	365					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|pancreas(1)|prostate(1)	21						GGGGATAAATCCTATGCATGTAACAAATGTGAAAAATCC	0.438																																					NSCLC(60;75 1281 16985 25154 29885)	ENST00000292530.6																			0				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|pancreas(1)|prostate(1)	21						c.(1093-1113)ttfs		zinc finger protein 333																																				SO:0001589	frameshift_variant	84449				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:14829233_14829251delCCTATGCATGTAACAAATG		CCDS12316.1, CCDS74298.1	19p13	2013-01-08				ENSG00000160961		"Zinc fingers, C2H2-type", "-"	15624	protein-coding gene	gene with protein product		611811				12151103	Standard	XM_005260098		Approved	KIAA1806	uc002mzn.3	Q96JL9		ENST00000292530.6:c.1094_1112delCCTATGCATGTAACAAATG	19.37:g.14829233_14829251delCCTATGCATGTAACAAATG	ENSP00000292530:p.Ser365fs					ZNF333_ENST00000540689.2_Intron|ZNF333_ENST00000536363.1_Frame_Shift_Del_p.SYACNKC256fs	p.SYACNKC365fs	NM_032433.2	NP_115809.1	Q96JL9	ZN333_HUMAN			12	1185_1203	+			365					Q6P2E6|Q86WS6|Q8TDL0	Frame_Shift_Del	DEL	ENST00000292530.6	37	c.1094_1112delCCTATGCATGTAACAAATG	CCDS12316.1																																																																																				0.438	ZNF333-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466496.1	NM_032433		8	67						8	67	---	---	---	---	-	14829251	CCTATGCATGTAACAAATG	-	14829233	7	5	157	1	0	1	0	1	0	0	0	0	17847	855	30	0	1136	0	ZNF333	19	14829233	Frame_Shift_Del	DEL	CCTATGCATGTAACAAATG	TCGA-G9-6348-01A-11D-1786-08		14829233	44299750	45	7649											
JUND	3727	broad.mit.edu	37	chr19	18391297	18391297	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gcagcagctggcagccgctgTtgacgtggctgaggactttc	6	9	15	11	2	0	2	0	2	0	0	1	3	0	3	1	3	3	7	1	3	0	2			TCGA-G9-6348-01A-11D-1786-08	TCGA-G9-6348-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	663c2f26-4e49-4752-bde5-fb5e9229daf9	e6ab50da-966a-4429-95c9-36e22d269e25	g.chr19:18391297T>C	ENST00000252818.3	-	1	1135	c.998A>G	c.(997-999)aAc>aGc	p.N333S	MIR3188_ENST00000583494.1_RNA	NM_005354.4	NP_005345.3	P17535	JUND_HUMAN	jun D proto-oncogene	333					aging (GO:0007568)|cellular response to calcium ion (GO:0071277)|circadian rhythm (GO:0007623)|osteoblast development (GO:0002076)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to light stimulus (GO:0009416)|response to lipopolysaccharide (GO:0032496)|response to mechanical stimulus (GO:0009612)|response to organic cyclic compound (GO:0014070)|response to peptide hormone (GO:0043434)|transcription from RNA polymerase II promoter (GO:0006366)	chromatin (GO:0000785)|nucleus (GO:0005634)|protein complex (GO:0043234)	double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)	p.N289S(1)		lung(2)|prostate(1)	3						GCAGCCGCTGTTGACGTGGCT	0.706																																						ENST00000252818.3																			1	Substitution - Missense(1)	p.N289S(1)	prostate(1)	lung(2)|prostate(1)	3						c.(997-999)aAc>aGc		jun D proto-oncogene							10	11	11					19																	18391297		2188	4276	6464	SO:0001583	missense	3727				regulation of transcription from RNA polymerase II promoter	chromatin|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	g.chr19:18391297T>C		CCDS32959.1	19p13.2	2013-01-10				ENSG00000130522		"basic leucine zipper proteins"	6206	protein-coding gene	gene with protein product	"transcription factor jun-D", "JunD-FL isoform", "activator protein 1"	165162				2112242, 1903194	Standard	NM_005354		Approved	AP-1	uc002nip.2	P17535		ENST00000252818.3:c.998A>G	19.37:g.18391297T>C	ENSP00000252818:p.Asn333Ser						p.N333S	NM_005354.4	NP_005345.3	P17535	JUND_HUMAN			1	1135	-			333					Q53EK9	Missense_Mutation	SNP	ENST00000252818.3	37	c.998A>G	CCDS32959.1	.	.	.	.	.	.	.	.	.	.	.	10.08	1.253437	0.22965	.	.	ENSG00000130522	ENST00000252818	T	0.22945	1.93	3.2	3.2	0.36748	.	0.055387	0.64402	U	0.000002	T	0.16938	0.0407	L	0.37630	1.12	0.40612	D	0.981681	B	0.32781	0.384	B	0.27262	0.078	T	0.07868	-1.0750	10	0.27082	T	0.32	.	9.7586	0.40519	0.0:0.0:0.0:1.0	.	333	P17535	JUND_HUMAN	S	333	ENSP00000252818:N333S	ENSP00000252818:N333S	N	-	2	0	JUND	18252297	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	1.063000	0.30567	1.465000	0.48006	0.375000	0.23000	AAC		0.706	JUND-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466318.2	NM_005354		5	9	0	0	0	0.014758	0	5	9					C	18391297	T	C	18391297	3	2	157	1	0	0	0	0	1	0	0	0	7971	1725	60	4	49	4	JUND	19	18391297	Missense_Mutation	SNP	T	TCGA-G9-6348-01A-11D-1786-08	3562064	18391297	40737686	46	7650											
SIGLEC9	27180	broad.mit.edu	37	chr19	51630484	51630484	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gggtgcacctgagggatgcaGctgaattcacctgcagagct	9	8	14	10	0	1	3	1	2	0	1	1	4	1	4	2	2	5	5	2	2	1	1			TCGA-G9-6348-01A-11D-1786-08	TCGA-G9-6348-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	663c2f26-4e49-4752-bde5-fb5e9229daf9	e6ab50da-966a-4429-95c9-36e22d269e25	g.chr19:51630484G>C	ENST00000250360.3	+	4	1013	c.946G>C	c.(946-948)Gct>Cct	p.A316P	SIGLEC9_ENST00000440804.3_Missense_Mutation_p.A316P	NM_014441.2	NP_055256.1	Q9Y336	SIGL9_HUMAN	sialic acid binding Ig-like lectin 9	316	Ig-like C2-type 2.		A -> D (in dbSNP:rs273688).		cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)	integral component of plasma membrane (GO:0005887)	carbohydrate binding (GO:0030246)	p.A316P(1)		NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(3)|lung(25)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	45		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.000826)|OV - Ovarian serous cystadenocarcinoma(262;0.00295)		GAGGGATGCAGCTGAATTCAC	0.632																																						ENST00000440804.3																			1	Substitution - Missense(1)	p.A316P(1)	prostate(1)	NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(3)|lung(25)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	45						c.(946-948)Gct>Cct		sialic acid binding Ig-like lectin 9							41	40	40					19																	51630484		2203	4300	6503	SO:0001583	missense	27180				cell adhesion|cell surface receptor linked signaling pathway	integral to plasma membrane	sugar binding	g.chr19:51630484G>C	AF135027	CCDS12825.1, CCDS56100.1	19q13.3-q13.4	2013-01-29			ENSG00000129450	ENSG00000129450		"Sialic acid binding Ig-like lectins", "CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	10878	protein-coding gene	gene with protein product		605640				10903842	Standard	NM_014441		Approved	CD329	uc002pvu.3	Q9Y336		ENST00000250360.3:c.946G>C	19.37:g.51630484G>C	ENSP00000250360:p.Ala316Pro					SIGLEC9_ENST00000250360.3_Missense_Mutation_p.A316P	p.A316P	NM_001198558.1	NP_001185487.1	Q9Y336	SIGL9_HUMAN		GBM - Glioblastoma multiforme(134;0.000826)|OV - Ovarian serous cystadenocarcinoma(262;0.00295)	4	1013	+		all_neural(266;0.0529)	316		A -> D (in dbSNP:rs273688).	Ig-like C2-type 2.		Q6GTU4|Q9BYI9	Missense_Mutation	SNP	ENST00000250360.3	37	c.946G>C	CCDS12825.1	.	.	.	.	.	.	.	.	.	.	.	11.09	1.535351	0.27475	.	.	ENSG00000129450	ENST00000440804;ENST00000250360	T;T	0.13089	2.62;2.62	2.3	2.3	0.28687	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.635768	0.12920	N	0.428257	T	0.10252	0.0251	L	0.29908	0.895	0.09310	N	1	B	0.25772	0.134	B	0.23574	0.047	T	0.23762	-1.0179	10	0.87932	D	0	.	7.7535	0.28911	0.0:0.0:1.0:0.0	.	316	Q9Y336	SIGL9_HUMAN	P	316	ENSP00000413861:A316P;ENSP00000250360:A316P	ENSP00000250360:A316P	A	+	1	0	SIGLEC9	56322296	0.029000	0.19370	0.002000	0.10522	0.002000	0.02628	2.226000	0.42963	1.127000	0.42034	0.407000	0.27541	GCT		0.632	SIGLEC9-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000464224.1	NM_014441		8	45	0	0	0	0.069234	0	8	45					C	51630484	G	C	51630484	3	2	157	1	0	0	0	0	1	0	0	0	14315	971	34	5	960	5	SIGLEC9	19	51630484	Missense_Mutation	SNP	G	TCGA-G9-6348-01A-11D-1786-08	33239187	51630484	7498499	47	7651											
PRKCG	5582	broad.mit.edu	37	chr19	54387493	54387493	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgctgggaagggcccccagaCggacgtgagtgctcggacac	8	4	16	13	4	0	2	0	1	0	1	1	5	0	5	2	4	1	2	2	4	1	0			TCGA-G9-6348-01A-11D-1786-08	TCGA-G9-6348-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	663c2f26-4e49-4752-bde5-fb5e9229daf9	e6ab50da-966a-4429-95c9-36e22d269e25	g.chr19:54387493C>T	ENST00000263431.3	+	3	563	c.281C>T	c.(280-282)aCg>aTg	p.T94M	PRKCG_ENST00000542049.1_Silent_p.D18D|PRKCG_ENST00000536044.1_Missense_Mutation_p.T94M|PRKCG_ENST00000540413.1_Missense_Mutation_p.T94M	NM_002739.3	NP_002730.1	P05129	KPCG_HUMAN	protein kinase C, gamma	94					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|cell death (GO:0008219)|chemosensory behavior (GO:0007635)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|innervation (GO:0060384)|intracellular signal transduction (GO:0035556)|learning or memory (GO:0007611)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of protein ubiquitination (GO:0031397)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphorylation (GO:0016310)|platelet activation (GO:0030168)|positive regulation of mismatch repair (GO:0032425)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|response to morphine (GO:0043278)|response to pain (GO:0048265)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)|dendrite (GO:0030425)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|synaptic membrane (GO:0097060)	ATP binding (GO:0005524)|calcium-dependent protein kinase C activity (GO:0004698)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|zinc ion binding (GO:0008270)			large_intestine(1)|lung(4)|ovary(2)|pancreas(2)|skin(1)	10	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0521)	Tamoxifen(DB00675)	GGCCCCCAGACGGACGTGAGT	0.577																																						ENST00000263431.3																			0				large_intestine(1)|lung(4)|ovary(2)|pancreas(2)|skin(1)	10						c.(280-282)aCg>aTg		protein kinase C, gamma							73	68	69					19																	54387493		2203	4300	6503	SO:0001583	missense	5582				activation of phospholipase C activity|cell death|intracellular signal transduction|negative regulation of protein catabolic process|negative regulation of protein ubiquitination|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of mismatch repair|synaptic transmission	cytosol	ATP binding|protein kinase C activity|zinc ion binding	g.chr19:54387493C>T	M13977	CCDS12867.1	19q13.4	2014-09-17			ENSG00000126583	ENSG00000126583	2.7.11.1		9402	protein-coding gene	gene with protein product	"PKC-gamma"	176980		PKCG, SCA14		8432525, 3755548	Standard	NM_002739		Approved	PKCC, MGC57564	uc002qcq.1	P05129	OTTHUMG00000064846	ENST00000263431.3:c.281C>T	19.37:g.54387493C>T	ENSP00000263431:p.Thr94Met					PRKCG_ENST00000542049.1_Silent_p.D18D|PRKCG_ENST00000540413.1_Missense_Mutation_p.T94M|PRKCG_ENST00000536044.1_Missense_Mutation_p.T94M	p.T94M	NM_002739.3	NP_002730.1	P05129	KPCG_HUMAN		GBM - Glioblastoma multiforme(134;0.0521)	3	563	+	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)		94					B7Z8Q0	Missense_Mutation	SNP	ENST00000263431.3	37	c.281C>T	CCDS12867.1	.	.	.	.	.	.	.	.	.	.	C	18.61	3.660522	0.67586	.	.	ENSG00000126583	ENST00000536044;ENST00000540413;ENST00000263431;ENST00000419486	T;T;T	0.79141	-1.24;-0.57;-0.57	4.68	4.68	0.58851	.	.	.	.	.	D	0.84750	0.5541	M	0.73598	2.24	0.80722	D	1	D;D;D;D	0.61697	0.982;0.986;0.99;0.987	P;P;P;P	0.56514	0.707;0.8;0.608;0.772	D	0.87111	0.2185	9	0.72032	D	0.01	.	15.4645	0.75387	0.0:1.0:0.0:0.0	.	94;94;94;94	F5H5C4;B7Z870;B7Z3W6;P05129	.;.;.;KPCG_HUMAN	M	94;94;94;117	ENSP00000440541:T94M;ENSP00000443493:T94M;ENSP00000263431:T94M	ENSP00000263431:T94M	T	+	2	0	PRKCG	59079305	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	6.762000	0.74950	2.332000	0.79248	0.313000	0.20887	ACG		0.577	PRKCG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139233.3	NM_002739		14	67	0	0	0	0.020292	0	14	67					T	54387493	C	T	54387493	3	4	157	1	0	0	0	0	1	0	0	0	12512	536	19	1	291	1	PRKCG	19	54387493	Missense_Mutation	SNP	C	TCGA-G9-6348-01A-11D-1786-08	2757009	54387493	4741490	48	7652											
ZNF749	388567	broad.mit.edu	37	chr19	57956721	57956721	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgtgggaaagacttcaacaaAtgtaatactggtcagcgcca	14	9	10	8	1	2	1	2	0	0	1	2	2	2	2	1	2	3	1	1	2	5	3			TCGA-G9-6348-01A-11D-1786-08	TCGA-G9-6348-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	663c2f26-4e49-4752-bde5-fb5e9229daf9	e6ab50da-966a-4429-95c9-36e22d269e25	g.chr19:57956721A>C	ENST00000334181.4	+	3	2455	c.2205A>C	c.(2203-2205)aaA>aaC	p.K735N	AC004076.9_ENST00000596831.1_Intron	NM_001023561.2	NP_001018855.2	O43361	ZN749_HUMAN	zinc finger protein 749	735					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.K735N(1)|p.K648N(1)		breast(1)|endometrium(6)|kidney(2)|lung(3)|prostate(1)	13		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0264)|Lung(386;0.177)		ACTTCAACAAATGTAATACTG	0.398																																						ENST00000334181.4																			2	Substitution - Missense(2)	p.K735N(1)|p.K648N(1)	prostate(2)	breast(1)|endometrium(6)|kidney(2)|lung(3)|prostate(1)	13						c.(2203-2205)aaA>aaC		zinc finger protein 749							106	109	108					19																	57956721		2203	4300	6503	SO:0001583	missense	388567				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57956721A>C	AK122740	CCDS33132.2	19q13.43	2013-01-08			ENSG00000186230	ENSG00000186230		"Zinc fingers, C2H2-type", "-"	32783	protein-coding gene	gene with protein product							Standard	NM_001023561		Approved	FLJ16360	uc002qoq.2	O43361	OTTHUMG00000150372	ENST00000334181.4:c.2205A>C	19.37:g.57956721A>C	ENSP00000333980:p.Lys735Asn					AC004076.9_ENST00000596831.1_Intron	p.K735N	NM_001023561.2	NP_001018855.2	O43361	ZN749_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0264)|Lung(386;0.177)	3	2455	+		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)	735						Missense_Mutation	SNP	ENST00000334181.4	37	c.2205A>C	CCDS33132.2	.	.	.	.	.	.	.	.	.	.	a	5.243	0.230386	0.09969	.	.	ENSG00000186230	ENST00000334181	T	0.03468	3.92	0.838	-0.33	0.12683	Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.08268	0.0206	L	0.49513	1.565	0.09310	N	1	D	0.64830	0.994	P	0.62885	0.908	T	0.30357	-0.9981	9	0.33940	T	0.23	.	4.2342	0.10618	0.4356:0.0:0.5644:0.0	.	735	O43361	ZN749_HUMAN	N	735	ENSP00000333980:K735N	ENSP00000333980:K735N	K	+	3	2	ZNF749	62648533	0.000000	0.05858	0.001000	0.08648	0.397000	0.30659	0.668000	0.25127	-0.179000	0.10654	0.255000	0.18592	AAA		0.398	ZNF749-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317879.1	NM_001023561		18	89	0	0	0	0.049695	0	18	89					C	57956721	A	C	57956721	3	2	157	1	0	0	0	0	1	0	0	0	18128	98	4	5	2215	5	ZNF749	19	57956721	Missense_Mutation	SNP	A	TCGA-G9-6348-01A-11D-1786-08	3569228	57956721	1172262	49	7653											
TUBB1	81027	broad.mit.edu	37	chr20	57598857	57598857	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtggtgaggcacgagagtgaGagctgtgactgcctgcaggg	8	7	19	7	1	0	4	0	3	0	2	0	6	0	4	1	3	3	3	1	3	0	0			TCGA-G9-6348-01A-11D-1786-08	TCGA-G9-6348-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	663c2f26-4e49-4752-bde5-fb5e9229daf9	e6ab50da-966a-4429-95c9-36e22d269e25	g.chr20:57598857G>C	ENST00000217133.1	+	4	644	c.375G>C	c.(373-375)gaG>gaC	p.E125D		NM_030773.3	NP_110400.1	Q9H4B7	TBB1_HUMAN	tubulin, beta 1 class VI	125					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|protein folding (GO:0006457)|protein polymerization (GO:0051258)|spindle assembly (GO:0051225)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)	p.E125D(2)		endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(2)|skin(2)	16	all_lung(29;0.00711)		Colorectal(105;0.109)		Cabazitaxel(DB06772)|Colchicine(DB01394)|Docetaxel(DB01248)|Paclitaxel(DB01229)|Vindesine(DB00309)	ACGAGAGTGAGAGCTGTGACT	0.602																																						ENST00000217133.1																			2	Substitution - Missense(2)	p.E125D(2)	prostate(2)	endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(2)|skin(2)	16						c.(373-375)gaG>gaC		tubulin, beta 1 class VI	Colchicine(DB01394)|Docetaxel(DB01248)|Paclitaxel(DB01229)|Vindesine(DB00309)						91	99	96					20																	57598857		2203	4300	6503	SO:0001583	missense	81027				'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity	g.chr20:57598857G>C	AJ292757	CCDS13475.1	20q13.32	2014-09-17	2011-10-10		ENSG00000101162	ENSG00000101162		"Tubulins"	16257	protein-coding gene	gene with protein product	"class VI beta-tubulin"	612901	"tubulin, beta 1"				Standard	NM_030773		Approved	dJ543J19.4	uc002yak.3	Q9H4B7	OTTHUMG00000032860	ENST00000217133.1:c.375G>C	20.37:g.57598857G>C	ENSP00000217133:p.Glu125Asp						p.E125D	NM_030773.3	NP_110400.1	Q9H4B7	TBB1_HUMAN	Colorectal(105;0.109)		4	644	+	all_lung(29;0.00711)		125						Missense_Mutation	SNP	ENST00000217133.1	37	c.375G>C	CCDS13475.1	.	.	.	.	.	.	.	.	.	.	G	16.88	3.245667	0.59103	.	.	ENSG00000101162	ENST00000217133	T	0.73047	-0.71	5.39	4.44	0.53790	Tubulin/FtsZ, GTPase domain (4);	0.000000	0.85682	D	0.000000	T	0.82051	0.4953	M	0.81179	2.53	0.53688	D	0.99997	P	0.51057	0.941	D	0.66196	0.942	T	0.83316	-0.0020	10	0.87932	D	0	.	9.3959	0.38401	0.1619:0.0:0.8381:0.0	.	125	Q9H4B7	TBB1_HUMAN	D	125	ENSP00000217133:E125D	ENSP00000217133:E125D	E	+	3	2	TUBB1	57032252	1.000000	0.71417	0.294000	0.24946	0.784000	0.44337	4.882000	0.63121	1.287000	0.44583	0.655000	0.94253	GAG		0.602	TUBB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079903.1	NM_030773		19	108	0	0	0	0.049695	0	19	108					C	57598857	G	C	57598857	3	2	157	1	0	0	0	0	1	0	0	0	16750	933	33	5	389	5	TUBB1	20	57598857	Missense_Mutation	SNP	G	TCGA-G9-6348-01A-11D-1786-08		57598857	5426663	50	7654											
PACSIN2	11252	broad.mit.edu	37	chr22	43267420	43267420	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaacttgcccgttgtccaaGcgtcccttgcaccagccctg	6	9	8	18	2	0	0	0	0	0	0	2	0	2	0	6	0	5	2	6	0	2	3			TCGA-G9-6348-01A-11D-1786-08	TCGA-G9-6348-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	663c2f26-4e49-4752-bde5-fb5e9229daf9	e6ab50da-966a-4429-95c9-36e22d269e25	g.chr22:43267420G>A	ENST00000263246.3	-	11	1605	c.1404C>T	c.(1402-1404)cgC>cgT	p.R468R	PACSIN2_ENST00000403744.3_Silent_p.R468R|PACSIN2_ENST00000337959.4_Silent_p.R427R|PACSIN2_ENST00000407585.1_Silent_p.R427R|PACSIN2_ENST00000402229.1_Silent_p.R468R	NM_001184970.1	NP_001171899.1	Q9UNF0	PACN2_HUMAN	protein kinase C and casein kinase substrate in neurons 2	468	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				actin cytoskeleton organization (GO:0030036)|caveola assembly (GO:0070836)|caveolin-mediated endocytosis (GO:0072584)|cell projection morphogenesis (GO:0048858)|membrane tubulation (GO:0097320)|negative regulation of endocytosis (GO:0045806)|protein localization to endosome (GO:0036010)	caveola (GO:0005901)|cell projection (GO:0042995)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|focal adhesion (GO:0005925)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|recycling endosome membrane (GO:0055038)	identical protein binding (GO:0042802)|phosphatidic acid binding (GO:0070300)|transporter activity (GO:0005215)	p.R468R(1)		NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(3)|prostate(2)|upper_aerodigestive_tract(1)	19		Glioma(61;0.222)				CGTTGTCCAAGCGTCCCTTGC	0.622																																						ENST00000263246.3																			1	Substitution - coding silent(1)	p.R468R(1)	prostate(1)	NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(3)|prostate(2)|upper_aerodigestive_tract(1)	19						c.(1402-1404)cgC>cgT		protein kinase C and casein kinase substrate in neurons 2							112	128	123					22																	43267420		2162	4269	6431	SO:0001819	synonymous_variant	11252				actin cytoskeleton organization|endocytosis	cytoplasmic membrane-bounded vesicle	transporter activity	g.chr22:43267420G>A	AF128536	CCDS43023.1, CCDS54536.1	22q13.2-q13.33	2009-05-08			ENSG00000100266	ENSG00000100266			8571	protein-coding gene	gene with protein product	"syndapin II"	604960				10431838, 11082044	Standard	NM_007229		Approved	SDPII	uc003bdg.4	Q9UNF0	OTTHUMG00000150701	ENST00000263246.3:c.1404C>T	22.37:g.43267420G>A						PACSIN2_ENST00000407585.1_Silent_p.R427R|PACSIN2_ENST00000496919.1_Intron|PACSIN2_ENST00000403744.3_Silent_p.R468R|PACSIN2_ENST00000337959.4_Silent_p.R427R|PACSIN2_ENST00000402229.1_Silent_p.R468R	p.R468R	NM_001184970.1	NP_001171899.1	Q9UNF0	PACN2_HUMAN			11	1605	-		Glioma(61;0.222)	468			SH3.		O95921|Q96HV9|Q9H0D3|Q9NPN1|Q9Y4V2	Silent	SNP	ENST00000263246.3	37	c.1404C>T	CCDS43023.1																																																																																				0.622	PACSIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319665.1	NM_007229		10	45	0	0	0	0.080935	0	10	45					A	43267420	G	A	43267420	2	1	157	1	0	0	0	0	0	0	0	1	11375	958	34	3		3	PACSIN2	22	43267420	Silent	SNP	G	TCGA-G9-6348-01A-11D-1786-08		43267420	8037146	51	7655											
DMD	1756	broad.mit.edu	37	chrX	32536160	32536160	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	taagtctgagaagttgccttCcttccgaaagattgcaaatt	12	13	8	8	1	1	2	0	1	1	2	3	4	3	2	3	0	2	2	3	0	4	6			TCGA-G9-6348-01A-11D-1786-08	TCGA-G9-6348-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	663c2f26-4e49-4752-bde5-fb5e9229daf9	e6ab50da-966a-4429-95c9-36e22d269e25	g.chrX:32536160C>T	ENST00000357033.4	-	18	2463	c.2257G>A	c.(2257-2259)Gaa>Aaa	p.E753K	DMD_ENST00000378677.2_Missense_Mutation_p.E749K|DMD_ENST00000288447.4_Missense_Mutation_p.E745K	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	753					cardiac muscle cell action potential (GO:0086001)|cardiac muscle contraction (GO:0060048)|cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|extracellular matrix organization (GO:0030198)|motile cilium assembly (GO:0044458)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|peptide biosynthetic process (GO:0043043)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of heart rate (GO:0002027)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of skeletal muscle contraction (GO:0014819)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|regulation of voltage-gated calcium channel activity (GO:1901385)	cell junction (GO:0030054)|cell surface (GO:0009986)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dystrophin-associated glycoprotein complex (GO:0016010)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|syntrophin complex (GO:0016013)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|dystroglycan binding (GO:0002162)|myosin binding (GO:0017022)|nitric-oxide synthase binding (GO:0050998)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)	p.E749K(2)|p.E748K(1)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				AAGTTGCCTTCCTTCCGAAAG	0.383																																						ENST00000357033.4																			3	Substitution - Missense(3)	p.E749K(2)|p.E748K(1)	prostate(3)	NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77						c.(2257-2259)Gaa>Aaa		dystrophin							73	65	67					X																	32536160		2202	4300	6502	SO:0001583	missense	1756				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding	g.chrX:32536160C>T	AF047505	CCDS14231.1, CCDS14232.1, CCDS14233.1, CCDS14234.1, CCDS48091.1, CCDS55394.1, CCDS55395.1, CCDS75965.1	Xp21.2	2014-09-17	2008-08-01		ENSG00000198947	ENSG00000198947			2928	protein-coding gene	gene with protein product	"muscular dystrophy, Duchenne and Becker types"	300377	"dystrophin (muscular dystrophy, Duchenne and Becker types), includes DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272", "mental retardation, X-linked 85"	MRX85		3282674, 3607877, 23900271	Standard	NM_004019		Approved	BMD, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272	uc004dda.1	P11532	OTTHUMG00000021336	ENST00000357033.4:c.2257G>A	X.37:g.32536160C>T	ENSP00000354923:p.Glu753Lys					DMD_ENST00000378677.2_Missense_Mutation_p.E749K|DMD_ENST00000288447.4_Missense_Mutation_p.E745K	p.E753K	NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN			18	2463	-		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)	753					E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Missense_Mutation	SNP	ENST00000357033.4	37	c.2257G>A	CCDS14233.1	.	.	.	.	.	.	.	.	.	.	C	20.0	3.930968	0.73327	.	.	ENSG00000198947	ENST00000534884;ENST00000378677;ENST00000357033;ENST00000542849;ENST00000535280;ENST00000288447	T;T;T	0.72505	0.71;0.71;-0.66	5.07	4.21	0.49690	.	0.251712	0.19274	U	0.118325	T	0.67804	0.2932	M	0.63428	1.95	0.80722	D	1	P;B;P;B	0.44380	0.457;0.011;0.834;0.013	B;B;B;B	0.41723	0.129;0.007;0.365;0.012	T	0.64807	-0.6320	10	0.33141	T	0.24	.	12.4582	0.55716	0.0:0.9151:0.0:0.0849	.	745;745;753;749	Q4G0X0;P11532-4;P11532;E9PDN5	.;.;DMD_HUMAN;.	K	745;749;753;753;630;745	ENSP00000367948:E749K;ENSP00000354923:E753K;ENSP00000288447:E745K	ENSP00000288447:E745K	E	-	1	0	DMD	32446081	1.000000	0.71417	0.994000	0.49952	0.975000	0.68041	5.505000	0.66981	0.913000	0.36797	0.583000	0.79449	GAA		0.383	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056182.2	NM_004006		12	18	0	0	0	0.080935	0	12	18					T	32536160	C	T	32536160	3	4	157	1	0	0	0	0	1	0	0	0	4580	864	30	3	9291	3	DMD	23	32536160	Missense_Mutation	SNP	C	TCGA-G9-6348-01A-11D-1786-08		32536160	122734400	52	7656											
GAGE2A	729408	broad.mit.edu	37	chrX	49208295	49208296	+	In_Frame_Ins	INS	-	-	TAT																															gttggcgaggaagatcgaccINStatcggcctagaccaagacg																								rs372553636		TCGA-G9-6348-01A-11D-1786-08	TCGA-G9-6348-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	663c2f26-4e49-4752-bde5-fb5e9229daf9	e6ab50da-966a-4429-95c9-36e22d269e25	g.chrX:49208295_49208296insTAT	ENST00000404720.2	+	2	96_97	c.24_25insTAT	c.(25-27)tat>TATtat	p.9_9Y>YY		NM_001098407.1|NM_012196.1	NP_001091877.1|NP_036328.1	Q9UEU5	GGE2D_HUMAN	G antigen 2D	9					cellular defense response (GO:0006968)												GAAGATCGACCTATCGGCCTAG	0.465														477	0.126358	0.031	0.098	3775	,	,		26951	0.0972		0.1441	False		,,,				2504	0.1278					ENST00000404720.2																			0											c.(22-27)acatcg>acTATatcg		G antigen 2D				10,505,1500		1,1,3,4,46,330,82,490,187						-1.1	0			8	27,1244,2482		1,3,16,6,128,539,446,675,577	no	codingComplex	GAGE2D	NM_001098407.1		2,4,19,10,174,869,528,1165,764	A1A1,A1A2,A1R,A1,A2A2,A2R,A2,RR,R		33.8662,25.5583,30.9639				37,1749,3982				SO:0001652	inframe_insertion	729408							g.chrX:49208295_49208296insTAT			Xp11.23	2012-10-02			ENSG00000240257				31959	protein-coding gene	gene with protein product		300735					Standard	NM_001098407		Approved	GAGE8		Q9UEU5	OTTHUMG00000067393	ENST00000404720.2:c.25_27dupTAT	X.37:g.49208296_49208298dupTAT	ENSP00000386110:p.Tyr9dup						p.8_9TS>TIS	NM_001098407.1|NM_012196.1	NP_001091877.1|NP_036328.1					2	96_97	+								A6NG46|A6NNR8|B7ZL76|Q4V325	In_Frame_Ins	INS	ENST00000404720.2	37	c.24_25insTAT	CCDS43941.1																																																																																				0.465	GAGE2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000144212.1	NM_001098407		7	18						7	18	---	---	---	---	TAT	49208296	-	TAT	49208295	7	5	157	1	0	1	1	0	0	0	0	0	6190	668	24	0	236	0	GAGE2A	23	49208295	In_Frame_Ins	INS	-	TCGA-G9-6348-01A-11D-1786-08	16672135	49208295	106062265	53	7657											
CHD1L	9557	broad.mit.edu	37	chr1	146765330	146765330	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcatcgtgatcgttccaaTgtcctgtctggcattaagat	9	13	9	10	2	1	2	0	1	1	1	5	2	3	2	2	1	1	3	2	1	2	2			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr1:146765330T>C	ENST00000369258.4	+	21	2450	c.2430T>C	c.(2428-2430)aaT>aaC	p.N810N	CHD1L_ENST00000369259.3_Silent_p.N606N|CHD1L_ENST00000431239.1_Silent_p.N716N|CHD1L_ENST00000361293.5_Silent_p.N529N|CHD1L_ENST00000467213.1_3'UTR	NM_001256336.1|NM_004284.4|NM_024568.2	NP_001243265.1|NP_004275.4|NP_078844.2	Q86WJ1	CHD1L_HUMAN	chromodomain helicase DNA binding protein 1-like	810	Macro. {ECO:0000255|PROSITE- ProRule:PRU00490}.				ATP catabolic process (GO:0006200)|cellular response to DNA damage stimulus (GO:0006974)|chromatin remodeling (GO:0006338)|DNA duplex unwinding (GO:0032508)|DNA repair (GO:0006281)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|nucleotide binding (GO:0000166)			breast(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(15)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33	all_hematologic(923;0.0487)					ATCGTTCCAATGTCCTGTCTG	0.463																																						ENST00000369258.4																			0				breast(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(15)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33						c.(2428-2430)aaT>aaC		chromodomain helicase DNA binding protein 1-like							191	185	187					1																	146765330		2203	4300	6503	SO:0001819	synonymous_variant	9557				chromatin remodeling|DNA repair	cytoplasm|nucleus|plasma membrane	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding	g.chr1:146765330T>C	AF054177	CCDS927.1, CCDS58021.1, CCDS58022.1, CCDS72882.1	1q21.1	2008-02-05			ENSG00000131778	ENSG00000131778			1916	protein-coding gene	gene with protein product		613039				9653160	Standard	NM_004284		Approved	ALC1	uc001epm.5	Q86WJ1	OTTHUMG00000150271	ENST00000369258.4:c.2430T>C	1.37:g.146765330T>C						CHD1L_ENST00000431239.1_Silent_p.N716N|CHD1L_ENST00000361293.5_Silent_p.N529N|CHD1L_ENST00000369259.3_Silent_p.N606N|CHD1L_ENST00000467213.1_3'UTR	p.N810N	NM_001256336.1|NM_004284.4|NM_024568.2	NP_001243265.1|NP_004275.4|NP_078844.2	Q86WJ1	CHD1L_HUMAN			21	2450	+	all_hematologic(923;0.0487)		810			Macro.		A5YM64|B4DDE1|B5MDZ7|Q53EZ3|Q5VXX7|Q6DD94|Q6PK83|Q86XH3|Q96HF7|Q96SP3|Q9BVJ1|Q9NVV8	Silent	SNP	ENST00000369258.4	37	c.2430T>C	CCDS927.1																																																																																				0.463	CHD1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040377.1	NM_004284		26	151	0	0	0	0.000339439	0	26	151					C	146765330	T	C	146765330	2	2	158	1	0	0	0	0	0	0	0	1	3324	1461	51	4		4	CHD1L	1	146765330	Silent	SNP	T	TCGA-G9-6351-01A-21D-1961-08		146765330	102485291	1	7658											
FLG2	388698	broad.mit.edu	37	chr1	152329418	152329418	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	acacccacttgaattgctatAaccacatgcatgacttcgcc	12	10	5	14	1	0	2	0	2	0	0	1	2	0	2	3	0	3	2	3	0	3	5			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr1:152329418A>T	ENST00000388718.5	-	3	916	c.844T>A	c.(844-846)Tat>Aat	p.Y282N	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	282	Ser-rich.				establishment of skin barrier (GO:0061436)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GAATTGCTATAACCACATGCA	0.428																																						ENST00000388718.5																			0				NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188						c.(844-846)Tat>Aat		filaggrin family member 2							181	165	170					1																	152329418		2203	4300	6503	SO:0001583	missense	388698						calcium ion binding|structural molecule activity	g.chr1:152329418A>T	AY827490	CCDS30861.1	1q21.3	2013-01-10			ENSG00000143520	ENSG00000143520		"EF-hand domain containing"	33276	protein-coding gene	gene with protein product						12477932	Standard	NM_001014342		Approved	IFPS	uc001ezw.4	Q5D862	OTTHUMG00000012245	ENST00000388718.5:c.844T>A	1.37:g.152329418A>T	ENSP00000373370:p.Tyr282Asn					FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	p.Y282N	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	916	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		282			Ser-rich.		Q9H4U1	Missense_Mutation	SNP	ENST00000388718.5	37	c.844T>A	CCDS30861.1	.	.	.	.	.	.	.	.	.	.	A	6.762	0.509513	0.12883	.	.	ENSG00000143520	ENST00000388718	T	0.01133	5.29	5.9	1.81	0.25067	.	.	.	.	.	T	0.00300	0.0009	N	0.22421	0.69	0.09310	N	1	P	0.37101	0.582	B	0.28011	0.085	T	0.41142	-0.9525	9	0.27082	T	0.32	-0.3416	5.6986	0.17869	0.558:0.151:0.0:0.291	.	282	Q5D862	FILA2_HUMAN	N	282	ENSP00000373370:Y282N	ENSP00000373370:Y282N	Y	-	1	0	FLG2	150596042	0.001000	0.12720	0.001000	0.08648	0.117000	0.20001	1.002000	0.29796	1.036000	0.39998	0.528000	0.53228	TAT		0.428	FLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034018.5	NM_001014342		33	157	0	0	0	0.000814825	0	33	157					T	152329418	A	T	152329418	3	4	158	1	0	0	0	0	1	0	0	0	5923	362	13	5	6335	5	FLG2	1	152329418	Missense_Mutation	SNP	A	TCGA-G9-6351-01A-21D-1961-08	5564088	152329418	96921203	2	7659											
SPRR2G	6706	broad.mit.edu	37	chr1	153122527	153122527	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catggctctgggcactttggCgtggggcacacaggaggtgg	6	8	18	9	1	1	0	0	0	1	0	1	1	1	1	0	8	0	3	0	8	0	1			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr1:153122527C>T	ENST00000368748.4	-	2	98	c.60G>A	c.(58-60)acG>acA	p.T20T		NM_001014291.3	NP_001014313.1	Q9BYE4	SPR2G_HUMAN	small proline-rich protein 2G	20					epidermis development (GO:0008544)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)	cornified envelope (GO:0001533)|cytoplasm (GO:0005737)				endometrium(1)|lung(1)|skin(1)	3	all_lung(78;1.78e-30)|Lung NSC(65;7.29e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			GGCACTTTGGCGTGGGGCACA	0.577																																						ENST00000368748.4																			0				endometrium(1)|lung(1)|skin(1)	3						c.(58-60)acG>acA		small proline-rich protein 2G							128	101	111					1																	153122527		2203	4298	6501	SO:0001819	synonymous_variant	0				keratinization	cornified envelope|cytoplasm		g.chr1:153122527C>T	AF333957	CCDS30868.1	1q21-q22	2008-02-05			ENSG00000159516	ENSG00000159516			11267	protein-coding gene	gene with protein product						8325635, 11279051	Standard	NM_001014291		Approved		uc009wod.2	Q9BYE4	OTTHUMG00000014399	ENST00000368748.4:c.60G>A	1.37:g.153122527C>T							p.T20T	NM_001014291.3	NP_001014313.1	Q9BYE4	SPR2G_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		2	98	-	all_lung(78;1.78e-30)|Lung NSC(65;7.29e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		20						Silent	SNP	ENST00000368748.4	37	c.60G>A	CCDS30868.1																																																																																				0.577	SPRR2G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040057.1			13	122	0	0	0	0.000151284	0	13	122					T	153122527	C	T	153122527	2	4	158	1	0	0	0	0	0	0	0	1	15101	755	27	1		1	SPRR2G	1	153122527	Silent	SNP	C	TCGA-G9-6351-01A-21D-1961-08	793109	153122527	96128094	3	7660											
REG3G	130120	broad.mit.edu	37	chr2	79253898	79253898	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gctgtcccaaaggctccaagGcctatggctccccctgctat	7	9	9	16	0	0	0	0	0	0	0	3	0	3	0	5	3	1	4	5	3	4	2			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr2:79253898G>T	ENST00000272324.5	+	3	320	c.136G>T	c.(136-138)Gcc>Tcc	p.A46S	REG3G_ENST00000409471.1_Missense_Mutation_p.A46S|REG3G_ENST00000393897.2_Missense_Mutation_p.A46S	NM_001008387.2	NP_001008388.1	Q6UW15	REG3G_HUMAN	regenerating islet-derived 3 gamma	46					acute-phase response (GO:0006953)|defense response to Gram-positive bacterium (GO:0050830)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|negative regulation of keratinocyte differentiation (GO:0045617)|positive regulation of keratinocyte proliferation (GO:0010838)|positive regulation of wound healing (GO:0090303)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)	carbohydrate binding (GO:0030246)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(27)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						AGGCTCCAAGGCCTATGGCTC	0.512																																						ENST00000272324.5																			0				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(27)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						c.(136-138)Gcc>Tcc		regenerating islet-derived 3 gamma							88	85	86					2																	79253898		2203	4300	6503	SO:0001583	missense	130120				acute-phase response	extracellular region	sugar binding	g.chr2:79253898G>T	AY359047	CCDS1962.1, CCDS58714.1	2p12	2005-02-11			ENSG00000143954	ENSG00000143954			29595	protein-coding gene	gene with protein product		609933				12975309	Standard	NM_001008387		Approved	UNQ429, LPPM429, PAP1B	uc002snx.4	Q6UW15	OTTHUMG00000130018	ENST00000272324.5:c.136G>T	2.37:g.79253898G>T	ENSP00000272324:p.Ala46Ser					REG3G_ENST00000409471.1_Missense_Mutation_p.A46S|REG3G_ENST00000393897.2_Missense_Mutation_p.A46S	p.A46S	NM_001008387.2	NP_001008388.1	Q6UW15	REG3G_HUMAN			3	320	+			46					A8K980|D6W5J6|Q3SYE4|Q3SYE6|Q6FH18	Missense_Mutation	SNP	ENST00000272324.5	37	c.136G>T	CCDS1962.1	.	.	.	.	.	.	.	.	.	.	G	18.36	3.605878	0.66445	.	.	ENSG00000143954	ENST00000393897;ENST00000272324;ENST00000409471	T;T;T	0.16457	4.3;4.3;2.34	5.05	1.2	0.21068	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (1);	0.116181	0.39083	N	0.001466	T	0.32852	0.0843	M	0.89414	3.03	0.09310	N	1	D;B	0.62365	0.991;0.002	P;B	0.58970	0.849;0.024	T	0.18398	-1.0338	10	0.24483	T	0.36	.	3.8989	0.09152	0.2668:0.0:0.5664:0.1667	.	46;46	Q3SYE6;Q6UW15	.;REG3G_HUMAN	S	46	ENSP00000377475:A46S;ENSP00000272324:A46S;ENSP00000387105:A46S	ENSP00000272324:A46S	A	+	1	0	REG3G	79107406	0.001000	0.12720	0.000000	0.03702	0.527000	0.34593	0.641000	0.24720	0.105000	0.17753	0.655000	0.94253	GCC		0.512	REG3G-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328247.1	NM_198448		12	58	1	0	1.49906e-05	0.000219431	0.00029138	12	58					T	79253898	G	T	79253898	3	4	158	1	0	0	0	0	1	0	0	0	13213	1203	42	5	142	5	REG3G	2	79253898	Missense_Mutation	SNP	G	TCGA-G9-6351-01A-21D-1961-08		79253898	163945475	4	7661											
CXCL9	4283	broad.mit.edu	37	chr4	76924788	76924788	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gacgagaacgttgagattttCgaactttcagaactttcttt	11	15	8	7	3	2	3	1	1	1	3	3	7	2	3	0	0	3	1	0	0	3	6	rs139830877		TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr4:76924788C>T	ENST00000264888.5	-	4	379	c.341G>A	c.(340-342)cGa>cAa	p.R114Q	RP11-630D6.5_ENST00000501239.2_RNA	NM_002416.1	NP_002407.1	Q07325	CXCL9_HUMAN	chemokine (C-X-C motif) ligand 9	114					cell chemotaxis (GO:0060326)|cell-cell signaling (GO:0007267)|cellular defense response (GO:0006968)|chemotaxis (GO:0006935)|defense response (GO:0006952)|defense response to virus (GO:0051607)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|positive regulation of cAMP metabolic process (GO:0030816)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|regulation of cell proliferation (GO:0042127)|signal transduction (GO:0007165)	external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	chemokine activity (GO:0008009)|CXCR3 chemokine receptor binding (GO:0048248)|cytokine activity (GO:0005125)	p.R114Q(1)		large_intestine(3)|liver(1)|lung(5)|ovary(1)|skin(1)	11			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			TTGAGATTTTCGAACTTTCAG	0.338																																						ENST00000264888.5																			1	Substitution - Missense(1)	p.R114Q(1)	large_intestine(1)	large_intestine(3)|liver(1)|lung(5)|ovary(1)|skin(1)	11						c.(340-342)cGa>cAa		chemokine (C-X-C motif) ligand 9		C	GLN/ARG	1,4401	2.1+/-5.4	0,1,2200	182	172	175		341	1.5	0	4	dbSNP_134	175	0,8596		0,0,4298	no	missense	CXCL9	NM_002416.1	43	0,1,6498	TT,TC,CC		0.0,0.0227,0.0077	benign	114/126	76924788	1,12997	2201	4298	6499	SO:0001583	missense	4283				cell-cell signaling|cellular defense response|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|inflammatory response	extracellular space	chemokine activity	g.chr4:76924788C>T	X72755	CCDS34014.1	4q21	2013-02-25	2002-08-22	2002-08-23		ENSG00000138755		"Endogenous ligands"	7098	protein-coding gene	gene with protein product		601704	"monokine induced by gamma interferon"	CMK, MIG		8476424, 9730616	Standard	NM_002416		Approved	SCYB9, Humig, crg-10	uc003hjh.1	Q07325		ENST00000264888.5:c.341G>A	4.37:g.76924788C>T	ENSP00000354901:p.Arg114Gln					RP11-630D6.5_ENST00000501239.2_RNA	p.R114Q	NM_002416.1	NP_002407.1	Q07325	CXCL9_HUMAN	Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)		4	379	-			114					Q503B4	Missense_Mutation	SNP	ENST00000264888.5	37	c.341G>A	CCDS34014.1	.	.	.	.	.	.	.	.	.	.	C	11.47	1.648113	0.29336	2.27E-4	0.0	ENSG00000138755	ENST00000264888	T	0.46063	0.88	5.35	1.46	0.22682	.	14.147600	0.00166	N	0.000000	T	0.22166	0.0534	N	0.03608	-0.345	0.09310	N	1	B	0.16802	0.019	B	0.04013	0.001	T	0.15407	-1.0438	10	0.27082	T	0.32	0.4425	6.353	0.21387	0.0:0.3344:0.0:0.6656	.	114	Q07325	CXCL9_HUMAN	Q	114	ENSP00000354901:R114Q	ENSP00000354901:R114Q	R	-	2	0	CXCL9	77143812	0.021000	0.18746	0.014000	0.15608	0.006000	0.05464	0.148000	0.16224	0.209000	0.20645	-0.290000	0.09829	CGA		0.338	CXCL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362819.1			7	88	0	0	0	0.000442599	0	7	88					T	76924788	C	T	76924788	3	4	158	1	0	0	0	0	1	0	0	0	4089	884	31	2	40	2	CXCL9	4	76924788	Missense_Mutation	SNP	C	TCGA-G9-6351-01A-21D-1961-08		76924788	114229488	5	7662											
CDH6	1004	broad.mit.edu	37	chr5	31323130	31323130	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	agggacattgtgcccgaagcCcttttcctaccccgacggac	8	8	10	15	3	0	0	0	0	0	0	1	4	1	2	5	2	3	0	5	2	2	4			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr5:31323130C>A	ENST00000265071.2	+	12	2353	c.2088C>A	c.(2086-2088)gcC>gcA	p.A696A		NM_004932.3	NP_004923.1	P55285	CADH6_HUMAN	cadherin 6, type 2, K-cadherin (fetal kidney)	696					adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						TGCCCGAAGCCCTTTTCCTAC	0.522																																						ENST00000265071.2																			0				NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						c.(2086-2088)gcC>gcA		cadherin 6, type 2, K-cadherin (fetal kidney)							87	81	83					5																	31323130		2203	4300	6503	SO:0001819	synonymous_variant	1004				adherens junction organization|cell junction assembly|homophilic cell adhesion	cytoplasm|integral to membrane|nucleus|plasma membrane	calcium ion binding	g.chr5:31323130C>A	D31784	CCDS3894.1	5p13.3	2010-01-26			ENSG00000113361	ENSG00000113361		"Cadherins / Major cadherins"	1765	protein-coding gene	gene with protein product	"K-Cadherin"	603007				7743525, 10191097	Standard	NM_004932		Approved		uc003jhe.2	P55285	OTTHUMG00000090673	ENST00000265071.2:c.2088C>A	5.37:g.31323130C>A							p.A696A	NM_004932.3	NP_004923.1	P55285	CADH6_HUMAN			12	2353	+			696					A8K5H5|Q9BWS0	Silent	SNP	ENST00000265071.2	37	c.2088C>A	CCDS3894.1																																																																																				0.522	CDH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207355.2	NM_004932		9	60	1	0	3.07112e-06	0.000978159	6.36745e-05	9	60					A	31323130	C	A	31323130	2	1	158	1	0	0	0	0	0	0	0	1	3114	610	22	5		5	CDH6	5	31323130	Silent	SNP	C	TCGA-G9-6351-01A-21D-1961-08		31323130	149592130	6	7663											
FBXL17	64839	broad.mit.edu	37	chr5	107216868	107216868	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttgtcatgctgtatcgcccaAtggctatcagtgctgcaaga	9	12	10	10	1	2	1	2	0	0	1	3	1	2	1	1	1	3	5	1	1	4	3			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr5:107216868A>G	ENST00000542267.1	-	8	2241	c.1835T>C	c.(1834-1836)aTt>aCt	p.I612T	FBXL17_ENST00000359660.5_Missense_Mutation_p.I214T|FBXL17_ENST00000496714.1_Missense_Mutation_p.I214T	NM_001163315.2	NP_001156787.2	Q9UF56	FXL17_HUMAN	F-box and leucine-rich repeat protein 17	612										endometrium(1)|large_intestine(4)|lung(1)	6		all_cancers(142;0.00273)|all_epithelial(76;0.000362)|Prostate(80;0.0115)|Myeloproliferative disorder(839;0.0393)|Ovarian(225;0.232)		OV - Ovarian serous cystadenocarcinoma(64;9.63e-11)|Epithelial(69;4.02e-10)		GTATCGCCCAATGGCTATCAG	0.453																																						ENST00000542267.1																			0				endometrium(1)|large_intestine(4)|lung(1)	6						c.(1834-1836)aTt>aCt		F-box and leucine-rich repeat protein 17							140	129	132					5																	107216868		2202	4300	6502	SO:0001583	missense	64839							g.chr5:107216868A>G	AL133602	CCDS54886.1	5q21.3	2011-06-09	2004-06-15	2004-06-16	ENSG00000145743	ENSG00000145743		"F-boxes / Leucine-rich repeats"	13615	protein-coding gene	gene with protein product		609083	"F-box only protein 13"	FBXO13			Standard	NM_001163315		Approved	DKFZP434C1715, Fbx13, Fbl17	uc011cvc.2	Q9UF56	OTTHUMG00000159785	ENST00000542267.1:c.1835T>C	5.37:g.107216868A>G	ENSP00000437464:p.Ile612Thr					FBXL17_ENST00000496714.1_Missense_Mutation_p.I214T|FBXL17_ENST00000359660.5_Missense_Mutation_p.I214T	p.I612T	NM_001163315.2	NP_001156787.2	Q9UF56	FXL17_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;9.63e-11)|Epithelial(69;4.02e-10)	8	2241	-		all_cancers(142;0.00273)|all_epithelial(76;0.000362)|Prostate(80;0.0115)|Myeloproliferative disorder(839;0.0393)|Ovarian(225;0.232)	612					A1A4E3	Missense_Mutation	SNP	ENST00000542267.1	37	c.1835T>C	CCDS54886.1	.	.	.	.	.	.	.	.	.	.	A	19.86	3.905940	0.72868	.	.	ENSG00000145743	ENST00000359660;ENST00000542267;ENST00000496714	T;T;T	0.02787	4.16;4.16;4.16	6.17	4.99	0.66335	.	0.076690	0.56097	D	0.000033	T	0.13114	0.0318	M	0.84156	2.68	0.45161	D	0.998176	D;D	0.57257	0.979;0.975	P;P	0.57960	0.681;0.83	T	0.00268	-1.1862	10	0.87932	D	0	.	12.7809	0.57476	0.8771:0.0:0.0:0.1228	.	612;214	Q9UF56;Q9UF56-2	FXL17_HUMAN;.	T	214;612;214	ENSP00000352683:I214T;ENSP00000437464:I612T;ENSP00000418111:I214T	ENSP00000352683:I214T	I	-	2	0	FBXL17	107244767	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	8.927000	0.92846	1.105000	0.41606	0.533000	0.62120	ATT		0.453	FBXL17-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				24	103	0	0	0	0.000878237	0	24	103					G	107216868	A	G	107216868	3	3	158	1	0	0	0	0	1	0	0	0	5713	101	4	4	278	4	FBXL17	5	107216868	Missense_Mutation	SNP	A	TCGA-G9-6351-01A-21D-1961-08	75893738	107216868	73698392	7	7664											
PCDHA1	56147	broad.mit.edu	37	chr5	140166008	140166008	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aagccaaacacggcaccttcGttggccgcgttgctcaggac	9	7	11	14	4	1	0	1	0	0	0	2	1	1	1	3	3	3	4	3	3	2	3			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr5:140166008G>A	ENST00000504120.2	+	1	133	c.133G>A	c.(133-135)Gtt>Att	p.V45I	PCDHA1_ENST00000394633.3_Missense_Mutation_p.V45I|PCDHA1_ENST00000378133.3_Missense_Mutation_p.V45I	NM_018900.2	NP_061723.1	Q9Y5I3	PCDA1_HUMAN	protocadherin alpha 1	45	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3)	70			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGGCACCTTCGTTGGCCGCGT	0.637																																						ENST00000504120.2																			0				breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3)	70						c.(133-135)Gtt>Att									49	55	53					5																	140166008		2203	4300	6503	SO:0001583	missense	0							g.chr5:140166008G>A	AF152479	CCDS54912.1, CCDS54913.1	5q31	2010-11-26				ENSG00000204970		"Cadherins / Protocadherins : Clustered"	8663	other	complex locus constituent	"KIAA0345-like 13"	606307				10380929	Standard	NM_018900		Approved			Q9Y5I3		ENST00000504120.2:c.133G>A	5.37:g.140166008G>A	ENSP00000420840:p.Val45Ile					PCDHA1_ENST00000394633.3_Missense_Mutation_p.V45I|PCDHA1_ENST00000378133.3_Missense_Mutation_p.V45I	p.V45I	NM_018900.2	NP_061723.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	133	+								O75288|Q9NRT7	Missense_Mutation	SNP	ENST00000504120.2	37	c.133G>A	CCDS54913.1	.	.	.	.	.	.	.	.	.	.	g	18.86	3.712806	0.68730	.	.	ENSG00000204970	ENST00000504120;ENST00000394633;ENST00000378133	T;T;T	0.49139	0.79;0.79;0.79	4.53	4.53	0.55603	Cadherin, N-terminal (1);Cadherin (2);Cadherin-like (1);	0.000000	0.38720	U	0.001583	T	0.67411	0.2890	M	0.66439	2.03	0.33835	D	0.63072	D;D;D	0.63880	0.967;0.993;0.98	D;D;P	0.75020	0.96;0.985;0.835	T	0.78473	-0.2190	10	0.87932	D	0	.	17.6095	0.88048	0.0:0.0:1.0:0.0	.	45;45;45	Q9Y5I3;Q9Y5I3-2;Q9Y5I3-3	PCDA1_HUMAN;.;.	I	45	ENSP00000420840:V45I;ENSP00000378129:V45I;ENSP00000367373:V45I	ENSP00000367373:V45I	V	+	1	0	PCDHA1	140146192	1.000000	0.71417	1.000000	0.80357	0.485000	0.33311	5.555000	0.67301	2.246000	0.74042	0.650000	0.86243	GTT		0.637	PCDHA1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000389127.1	NM_018900		20	64	0	0	0	0.000295444	0	20	64					A	140166008	G	A	140166008	3	1	158	1	0	0	0	0	1	0	0	0	11519	1145	40	1	135	1	PCDHA1	5	140166008	Missense_Mutation	SNP	G	TCGA-G9-6351-01A-21D-1961-08	32949140	140166008	40749252	8	7665											
PCDHB10	56126	broad.mit.edu	37	chr5	140572969	140572969	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cggaagtatcctattcatttTttgatgcctcagaaaatatt	12	16	6	7	1	2	2	2	1	0	1	3	3	3	3	2	1	1	1	2	1	6	8	rs143726447	byFrequency	TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr5:140572969T>G	ENST00000239446.4	+	1	1028	c.844T>G	c.(844-846)Ttt>Gtt	p.F282V		NM_018930.3	NP_061753.1	Q9UN67	PCDBA_HUMAN	protocadherin beta 10	282	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(30)|ovary(4)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	76			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CTATTCATTTTTTGATGCCTC	0.393																																						ENST00000239446.4																			0				breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(30)|ovary(4)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	76						c.(844-846)Ttt>Gtt									77	82	80					5																	140572969		2203	4300	6503	SO:0001583	missense	0				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140572969T>G	AF152489	CCDS4252.1	5q31.3	2010-06-15			ENSG00000120324	ENSG00000120324		"Cadherins / Protocadherins : Clustered"	8681	other	protocadherin		606336				10380929	Standard	NM_018930		Approved		uc003lix.3	Q9UN67	OTTHUMG00000129626	ENST00000239446.4:c.844T>G	5.37:g.140572969T>G	ENSP00000239446:p.Phe282Val						p.F282V	NM_018930.3	NP_061753.1	Q9UN67	PCDBA_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1028	+			282			Cadherin 3.		Q96T99	Missense_Mutation	SNP	ENST00000239446.4	37	c.844T>G	CCDS4252.1	.	.	.	.	.	.	.	.	.	.	T	9.101	1.004256	0.19199	.	.	ENSG00000120324	ENST00000239446	T	0.01647	4.71	3.41	3.41	0.39046	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.01870	0.0059	N	0.13272	0.32	0.19775	N	0.99996	P	0.41848	0.763	P	0.49421	0.61	T	0.50516	-0.8819	9	0.35671	T	0.21	.	2.2733	0.04096	0.2348:0.1708:0.0:0.5944	.	282	Q9UN67	PCDBA_HUMAN	V	282	ENSP00000239446:F282V	ENSP00000239446:F282V	F	+	1	0	PCDHB10	140553153	0.045000	0.20229	1.000000	0.80357	0.344000	0.29017	1.263000	0.33004	1.572000	0.49736	0.454000	0.30748	TTT		0.393	PCDHB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251821.1	NM_018930		12	58	0	0	0	0.000151284	0	12	58					G	140572969	T	G	140572969	3	3	158	1	0	0	0	0	1	0	0	0	11535	1841	64	5	846	5	PCDHB10	5	140572969	Missense_Mutation	SNP	T	TCGA-G9-6351-01A-21D-1961-08	406961	140572969	40342291	9	7666											
BAI3	577	broad.mit.edu	37	chr6	70071267	70071267	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgaacttagagcaacatctcGcaccccaggaacatatgcag	14	7	8	12	1	1	2	0	1	1	1	2	3	1	3	2	1	5	3	2	1	5	2			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr6:70071267G>A	ENST00000370598.1	+	29	4923	c.4102G>A	c.(4102-4104)Gca>Aca	p.A1368T	BAI3_ENST00000238918.8_Missense_Mutation_p.A574T|BAI3_ENST00000546190.1_Missense_Mutation_p.A332T	NM_001704.2	NP_001695	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	1368					G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				GCAACATCTCGCACCCCAGGA	0.438																																						ENST00000370598.1																			0				NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210						c.(4102-4104)Gca>Aca		brain-specific angiogenesis inhibitor 3							121	124	123					6																	70071267		2203	4300	6503	SO:0001583	missense	577				negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr6:70071267G>A	AB005299	CCDS4968.1	6q12	2014-08-08			ENSG00000135298	ENSG00000135298		"-", "GPCR / Class B : Orphans"	945	protein-coding gene	gene with protein product		602684				9533023	Standard	NM_001704		Approved	KIAA0550	uc003pev.4	O60242	OTTHUMG00000014982	ENST00000370598.1:c.4102G>A	6.37:g.70071267G>A	ENSP00000359630:p.Ala1368Thr					BAI3_ENST00000546190.1_Missense_Mutation_p.A332T|BAI3_ENST00000238918.8_Missense_Mutation_p.A574T	p.A1368T	NM_001704.2	NP_001695.1	O60242	BAI3_HUMAN			29	4923	+		all_lung(197;0.212)	1368					B7Z1K0|O60297|Q2NKN6|Q5VY37|Q9BX54	Missense_Mutation	SNP	ENST00000370598.1	37	c.4102G>A	CCDS4968.1	.	.	.	.	.	.	.	.	.	.	G	12.24	1.879261	0.33162	.	.	ENSG00000135298	ENST00000370598;ENST00000238918;ENST00000546190	T;T;T	0.05580	3.42;3.42;3.42	5.8	3.75	0.43078	.	0.290167	0.39020	N	0.001493	T	0.00845	0.0028	N	0.03608	-0.345	0.28624	N	0.908016	B;B	0.21688	0.002;0.059	B;B	0.13407	0.001;0.009	T	0.48670	-0.9015	10	0.21014	T	0.42	.	9.0922	0.36619	0.0973:0.3308:0.5719:0.0	.	574;1368	B7Z356;O60242	.;BAI3_HUMAN	T	1368;574;332	ENSP00000359630:A1368T;ENSP00000238918:A574T;ENSP00000441821:A332T	ENSP00000238918:A574T	A	+	1	0	BAI3	70127988	0.998000	0.40836	0.737000	0.30932	0.802000	0.45316	2.851000	0.48302	0.599000	0.29845	0.650000	0.86243	GCA		0.438	BAI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041120.1			29	155	0	0	0	0.000409698	0	29	155					A	70071267	G	A	70071267	3	1	158	1	0	0	0	0	1	0	0	0	1300	1087	38	1	4208	1	BAI3	6	70071267	Missense_Mutation	SNP	G	TCGA-G9-6351-01A-21D-1961-08		70071267	101043800	10	7667											
OLIG3	167826	broad.mit.edu	37	chr6	137815210	137815212	+	In_Frame_Del	DEL	TGG	TGG	-																															ccgagttgagacggctctccTggtggtggtggtggcggtgg																										TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr6:137815210_137815212delTGG	ENST00000367734.2	-	1	319_321	c.96_98delCCA	c.(94-99)caccag>cag	p.H32del		NM_175747.2	NP_786923.1	Q7RTU3	OLIG3_HUMAN	oligodendrocyte transcription factor 3	32	Poly-His.				spinal cord motor neuron cell fate specification (GO:0021520)|spinal cord motor neuron migration (GO:0097476)	nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II transcription corepressor activity (GO:0001106)	p.Q33K(1)		endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	11	Breast(32;0.165)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00161)|OV - Ovarian serous cystadenocarcinoma(155;0.00447)		ACGGCTCTCCtggtggtggtggt	0.596																																						ENST00000367734.2																			1	Substitution - Missense(1)	p.Q33K(1)	ovary(1)	endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	11						c.(94-99)cag>ca		oligodendrocyte transcription factor 3																																				SO:0001651	inframe_deletion	167826				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr6:137815210_137815212delTGG	AK096362	CCDS5186.1	6q23.3	2013-05-21			ENSG00000177468	ENSG00000177468		"Basic helix-loop-helix proteins"	18003	protein-coding gene	gene with protein product		609323					Standard	NM_175747		Approved	Bhlhb7, bHLHe20	uc003qhp.1	Q7RTU3	OTTHUMG00000015657	ENST00000367734.2:c.96_98delCCA	6.37:g.137815219_137815221delTGG	ENSP00000356708:p.His32del						p.HQ32del	NM_175747.2	NP_786923.1	Q7RTU3	OLIG3_HUMAN		GBM - Glioblastoma multiforme(68;0.00161)|OV - Ovarian serous cystadenocarcinoma(155;0.00447)	1	319_321	-	Breast(32;0.165)|Colorectal(23;0.24)		32			Poly-His.		Q8N8Q0	In_Frame_Del	DEL	ENST00000367734.2	37	c.96_98delCCA	CCDS5186.1																																																																																				0.596	OLIG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042405.1	NM_175747		8	124						8	124	---	---	---	---	-	137815212	TGG	-	137815210	7	5	158	1	0	1	0	1	0	0	0	0	10862	1580	55	0	724	0	OLIG3	6	137815210	In_Frame_Del	DEL	TGG	TCGA-G9-6351-01A-21D-1961-08	67743943	137815210	33299857	11	7668											
C9orf4	23732	broad.mit.edu	37	chr9	111909389	111909389	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catctgtgtctgcactcagcTcaaattctacatcagcccct	9	12	5	15	0	6	0	3	0	3	0	6	0	6	0	2	0	4	2	2	0	2	2			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr9:111909389T>C	ENST00000561981.2	-	3	556	c.557A>G	c.(556-558)gAg>gGg	p.E186G		NM_014334.2	NP_055149.2	Q9P0K9	FRS1L_HUMAN	ferric-chelate reductase 1-like	186	DOMON. {ECO:0000255|PROSITE- ProRule:PRU00246}.					cell junction (GO:0030054)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synapse (GO:0045202)											TGCACTCAGCTCAAATTCTAC	0.418																																						ENST00000374581.3																			0											c.(556-558)gAg>gGg		ferric-chelate reductase 1-like							185	168	174					9																	111909389		2203	4300	6503	SO:0001583	missense	23732					integral to membrane		g.chr9:111909389T>C	AF155065	CCDS35098.1	9q31.3	2014-07-16	2012-03-06	2012-03-06	ENSG00000260230	ENSG00000260230			1362	protein-coding gene	gene with protein product		604574	"chromosome 9 open reading frame 4"	C9orf4		10603000	Standard	NM_014334		Approved	CG-6	uc004bdw.1	Q9P0K9	OTTHUMG00000020468	ENST00000561981.2:c.557A>G	9.37:g.111909389T>C	ENSP00000477141:p.Glu186Gly						p.E186G	NM_014334.2	NP_055149.2	Q9P0K9	CI004_HUMAN			3	556	-			186			DOMON.		Q5T4G4	Missense_Mutation	SNP	ENST00000561981.2	37	c.557A>G	CCDS35098.1	.	.	.	.	.	.	.	.	.	.	T	28.6	4.931630	0.92389	.	.	ENSG00000136805	ENST00000374581	T	0.79845	-1.31	5.67	5.67	0.87782	DOMON domain (3);	0.000000	0.85682	D	0.000000	D	0.88672	0.6500	M	0.68593	2.085	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.89685	0.3893	10	0.72032	D	0.01	-8.6354	15.9192	0.79547	0.0:0.0:0.0:1.0	.	186	Q9P0K9	CI004_HUMAN	G	186	ENSP00000363709:E186G	ENSP00000363709:E186G	E	-	2	0	C9orf4	110949210	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.608000	0.82898	2.179000	0.69175	0.528000	0.53228	GAG		0.418	FRRS1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053586.2	NM_014334		3	112	0	0	0	6.4e-05	0	3	112					C	111909389	T	C	111909389	3	2	158	1	0	0	0	0	1	0	0	0	2480	1551	54	4	489	4	C9orf4	9	111909389	Missense_Mutation	SNP	T	TCGA-G9-6351-01A-21D-1961-08		111909389	29304042	12	7669											
SVEP1	79987	broad.mit.edu	37	chr9	113166722	113166722	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtatatgtgttatgttttccGggagaggacattttttagga	9	17	12	3	1	0	1	0	0	0	1	1	4	1	3	1	3	0	3	1	3	4	8			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr9:113166722G>A	ENST00000401783.2	-	39	9887	c.9551C>T	c.(9550-9552)cCg>cTg	p.P3184L	SVEP1_ENST00000374469.1_Missense_Mutation_p.P3161L|SVEP1_ENST00000297826.5_Missense_Mutation_p.P1110L	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	3184	Sushi 30. {ECO:0000255|PROSITE- ProRule:PRU00302}.				cell adhesion (GO:0007155)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|chromatin binding (GO:0003682)	p.P3187Q(1)		NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						TATGTTTTCCGGGAGAGGACA	0.433																																						ENST00000401783.2																			1	Substitution - Missense(1)	p.P3187Q(1)	lung(1)	NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						c.(9550-9552)cCg>cTg		sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1							259	256	257					9																	113166722		1882	4105	5987	SO:0001583	missense	79987				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding	g.chr9:113166722G>A	AK027870		9q31-q32	2008-02-05	2005-03-15	2005-03-17	ENSG00000165124	ENSG00000165124			15985	protein-coding gene	gene with protein product		611691	"chromosome 9 open reading frame 13"	C9orf13			Standard	NM_153366		Approved	bA427L11.3, POLYDOM, FLJ13529	uc010mtz.3	Q4LDE5	OTTHUMG00000020482	ENST00000401783.2:c.9551C>T	9.37:g.113166722G>A	ENSP00000384917:p.Pro3184Leu					SVEP1_ENST00000297826.5_Missense_Mutation_p.P1110L|SVEP1_ENST00000374469.1_Missense_Mutation_p.P3161L	p.P3184L	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN			39	9887	-			3184			Sushi 30.		Q0P675|Q5D213|Q5T938|Q5VTE4|Q5VTE5|Q7Z387|Q7Z3G3|Q8NBT9|Q96JU7|Q9H284|Q9H8J9	Missense_Mutation	SNP	ENST00000401783.2	37	c.9551C>T	CCDS48004.1	.	.	.	.	.	.	.	.	.	.	G	14.53	2.563213	0.45694	.	.	ENSG00000165124	ENST00000401783;ENST00000374469;ENST00000297826	D;D;D	0.84223	-1.82;-1.82;-1.82	5.52	5.52	0.82312	Complement control module (2);Sushi/SCR/CCP (3);	0.111999	0.64402	D	0.000008	D	0.88074	0.6339	L	0.59912	1.85	0.80722	D	1	D	0.89917	1.0	D	0.67231	0.95	D	0.83812	0.0242	10	0.05525	T	0.97	.	14.2911	0.66278	0.0:0.0:0.8514:0.1486	.	3184	Q4LDE5	SVEP1_HUMAN	L	3184;3161;1110	ENSP00000384917:P3184L;ENSP00000363593:P3161L;ENSP00000297826:P1110L	ENSP00000297826:P1110L	P	-	2	0	SVEP1	112206543	1.000000	0.71417	0.066000	0.19879	0.069000	0.16628	6.039000	0.70972	2.610000	0.88304	0.591000	0.81541	CCG		0.433	SVEP1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				57	314	0	0	0	0.000781405	0	57	314					A	113166722	G	A	113166722	3	1	158	1	0	0	0	0	1	0	0	0	15417	1116	39	2	1204	2	SVEP1	9	113166722	Missense_Mutation	SNP	G	TCGA-G9-6351-01A-21D-1961-08	1257333	113166722	28046709	13	7670											
HEPHL1	341208	broad.mit.edu	37	chr11	93796817	93796817	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	actgcctgacctgggtgtacCattcgcacatcgacgcccca	8	8	9	16	3	0	1	0	1	0	0	2	2	0	1	5	1	2	2	5	1	1	2			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr11:93796817C>A	ENST00000315765.9	+	3	567	c.559C>A	c.(559-561)Cat>Aat	p.H187N		NM_001098672.1	NP_001092142.1	Q6MZM0	HPHL1_HUMAN	hephaestin-like 1	187	Plastocyanin-like 1.				copper ion transport (GO:0006825)|oxidation-reduction process (GO:0055114)	integral component of membrane (GO:0016021)	copper ion binding (GO:0005507)|ferroxidase activity (GO:0004322)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	61		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)				CTGGGTGTACCATTCGCACAT	0.542																																						ENST00000315765.9																			0				NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	61						c.(559-561)Cat>Aat		hephaestin-like 1							106	106	106					11																	93796817		1977	4164	6141	SO:0001583	missense	341208				copper ion transport	integral to membrane	copper ion binding|oxidoreductase activity	g.chr11:93796817C>A	BX641008	CCDS44710.1	11q21	2008-02-05			ENSG00000181333	ENSG00000181333			30477	protein-coding gene	gene with protein product							Standard	NM_001098672		Approved	DKFZp686F22190	uc001pep.2	Q6MZM0	OTTHUMG00000167751	ENST00000315765.9:c.559C>A	11.37:g.93796817C>A	ENSP00000313699:p.His187Asn						p.H187N	NM_001098672.1	NP_001092142.1	Q6MZM0	HPHL1_HUMAN			3	567	+		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)	187			Plastocyanin-like 1.		Q3C1W7	Missense_Mutation	SNP	ENST00000315765.9	37	c.559C>A	CCDS44710.1	.	.	.	.	.	.	.	.	.	.	C	31	5.064979	0.93898	.	.	ENSG00000181333	ENST00000315765	D	0.99816	-6.91	5.42	5.42	0.78866	Cupredoxin (2);Multicopper oxidase, type 3 (1);	0.000000	0.85682	D	0.000000	D	0.99914	0.9959	H	0.98866	4.355	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96070	0.9045	10	0.87932	D	0	.	19.2305	0.93836	0.0:1.0:0.0:0.0	.	187	Q6MZM0	HPHL1_HUMAN	N	187	ENSP00000313699:H187N	ENSP00000313699:H187N	H	+	1	0	HEPHL1	93436465	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.832000	0.69337	2.549000	0.85964	0.655000	0.94253	CAT		0.542	HEPHL1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396103.2	XM_291947		21	112	1	0	8.34094e-07	0.000132079	1.78899e-05	21	112					A	93796817	C	A	93796817	3	1	158	1	0	0	0	0	1	0	0	0	7055	594	21	5	569	5	HEPHL1	11	93796817	Missense_Mutation	SNP	C	TCGA-G9-6351-01A-21D-1961-08		93796817	41209699	14	7671											
UTP14C	9724	broad.mit.edu	37	chr13	52603217	52603217	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttgcagatctgcttgagcccGttaaaacttcatcttctttg	8	16	7	10	1	4	2	1	1	3	1	4	2	4	2	1	0	4	3	1	0	2	6	rs545278962	byFrequency	TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr13:52603217G>A	ENST00000521776.2	+	2	1010	c.277G>A	c.(277-279)Gtt>Att	p.V93I	ALG11_ENST00000523764.1_3'UTR|ALG11_ENST00000521508.1_3'UTR	NM_021645.5	NP_067677.4	Q5TAP6	UT14C_HUMAN	UTP14, U3 small nucleolar ribonucleoprotein, homolog C (yeast)	93					cell differentiation (GO:0030154)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|rRNA processing (GO:0006364)|spermatogenesis (GO:0007283)	nucleus (GO:0005634)|small-subunit processome (GO:0032040)				breast(4)|cervix(1)|endometrium(1)|large_intestine(10)|lung(10)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1)	32		Breast(56;0.00173)|Lung NSC(96;0.0108)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;2.3e-08)		GCTTGAGCCCGTTAAAACTTC	0.423													g|||	10	0.00199681	0	0	5008	,	,		19880	0		0	False		,,,				2504	0.0102					ENST00000521776.2																			0				breast(4)|cervix(1)|endometrium(1)|large_intestine(10)|lung(10)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1)	32						c.(277-279)Gtt>Att		UTP14, U3 small nucleolar ribonucleoprotein, homolog C (yeast)							127	133	131					13																	52603217		2203	4300	6503	SO:0001583	missense	9724				cell differentiation|meiosis|multicellular organismal development|rRNA processing|spermatogenesis	nucleolus|small-subunit processome		g.chr13:52603217G>A	D87455	CCDS31978.1	13q12.2-q13.3	2010-11-23	2004-06-15	2004-06-16	ENSG00000253797	ENSG00000253797			20321	protein-coding gene	gene with protein product		608969	"KIAA0266"	KIAA0266		9039502, 16354793	Standard	NM_021645		Approved	2700066J21Rik	uc021rjw.1	Q5TAP6	OTTHUMG00000164353	ENST00000521776.2:c.277G>A	13.37:g.52603217G>A	ENSP00000428619:p.Val93Ile					ALG11_ENST00000523764.1_3'UTR|ALG11_ENST00000521508.1_3'UTR	p.V93I	NM_021645.5	NP_067677.4	Q5TAP6	UT14C_HUMAN		GBM - Glioblastoma multiforme(99;2.3e-08)	2	1010	+		Breast(56;0.00173)|Lung NSC(96;0.0108)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)	93					Q5FWG3|Q92555	Missense_Mutation	SNP	ENST00000521776.2	37	c.277G>A	CCDS31978.1	.	.	.	.	.	.	.	.	.	.	g	0.006	-2.068885	0.00382	.	.	ENSG00000253797	ENST00000521776	T	0.14516	2.5	2.74	-1.68	0.08212	.	0.605939	0.17786	N	0.162060	T	0.04048	0.0113	N	0.04655	-0.195	0.09310	N	1	B	0.11235	0.004	B	0.10450	0.005	T	0.42447	-0.9451	10	0.05620	T	0.96	3.7176	7.3214	0.26529	0.7313:0.0:0.2687:0.0	.	93	Q5TAP6	UT14C_HUMAN	I	93	ENSP00000428619:V93I	ENSP00000428619:V93I	V	+	1	0	UTP14C	51501218	0.104000	0.21937	0.012000	0.15200	0.328000	0.28507	0.307000	0.19296	-0.427000	0.07350	-0.379000	0.06801	GTT		0.423	UTP14C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045049.2	NM_021645		21	117	0	0	0	0.000175454	0	21	117					A	52603217	G	A	52603217	3	1	158	1	0	0	0	0	1	0	0	0	17093	1145	40	1	279	1	UTP14C	13	52603217	Missense_Mutation	SNP	G	TCGA-G9-6351-01A-21D-1961-08		52603217	62566661	15	7672											
RNF113B	140432	broad.mit.edu	37	chr13	98829414	98829414	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ggcctgcagcccctttccgtCcaggctttttgaagaggaag	7	10	12	12	1	0	2	0	1	0	1	2	3	2	3	5	3	2	2	5	3	2	3			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr13:98829414C>A	ENST00000267291.6	-	1	105	c.77G>T	c.(76-78)gGa>gTa	p.G26V	FARP1_ENST00000376586.2_Intron|FARP1_ENST00000376581.5_Intron|FARP1_ENST00000595437.1_Intron|FARP1_ENST00000319562.6_Intron	NM_178861.4	NP_849192.1	Q8IZP6	R113B_HUMAN	ring finger protein 113B	26							zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	18	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.13)			CCCTTTCCGTCCAGGCTTTTT	0.647																																						ENST00000267291.6																			0				breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						c.(76-78)gGa>gTa		ring finger protein 113B							45	43	44					13																	98829414		2203	4300	6503	SO:0001583	missense	140432						nucleic acid binding|zinc ion binding	g.chr13:98829414C>A	AF539427	CCDS9486.1	13q32.2	2006-08-22	2005-03-22	2005-03-22	ENSG00000139797	ENSG00000139797		"RING-type (C3HC4) zinc fingers"	17267	protein-coding gene	gene with protein product			"zinc finger protein 183-like 1"	ZNF183L1			Standard	NM_178861		Approved	RNF161	uc001vnk.3	Q8IZP6	OTTHUMG00000017245	ENST00000267291.6:c.77G>T	13.37:g.98829414C>A	ENSP00000267291:p.Gly26Val					FARP1_ENST00000376586.2_Intron|FARP1_ENST00000595437.1_Intron|FARP1_ENST00000319562.6_Intron|FARP1_ENST00000376581.5_Intron	p.G26V	NM_178861.4	NP_849192.1	Q8IZP6	R113B_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.13)		1	105	-	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		26					Q8WWF9|Q96QY9	Missense_Mutation	SNP	ENST00000267291.6	37	c.77G>T	CCDS9486.1	.	.	.	.	.	.	.	.	.	.	C	13.88	2.369146	0.42003	.	.	ENSG00000139797	ENST00000267291	T	0.31247	1.5	1.16	1.16	0.20824	.	0.372304	0.24779	U	0.035674	T	0.22282	0.0537	M	0.63428	1.95	0.43489	D	0.995723	P	0.35328	0.495	B	0.28139	0.086	T	0.03933	-1.0991	10	0.29301	T	0.29	.	5.6622	0.17674	0.0:1.0:0.0:0.0	.	26	Q8IZP6	R113B_HUMAN	V	26	ENSP00000267291:G26V	ENSP00000267291:G26V	G	-	2	0	RNF113B	97627415	0.059000	0.20769	0.959000	0.39883	0.816000	0.46133	0.012000	0.13287	0.936000	0.37367	0.484000	0.47621	GGA		0.647	RNF113B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045536.3	NM_178861		5	49	1	0	3.59834e-05	3.59834e-05	0.000678232	5	49					A	98829414	C	A	98829414	3	1	158	1	0	0	0	0	1	0	0	0	13428	855	30	5	899	5	RNF113B	13	98829414	Missense_Mutation	SNP	C	TCGA-G9-6351-01A-21D-1961-08	46226197	98829414	16340464	16	7673											
FOXA1	3169	broad.mit.edu	37	chr14	38061705	38061705	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcacgccggccgcagtcatgCtgttcatggcgcccgccgag	5	7	13	16	6	3	0	3	0	0	0	3	1	3	0	4	2	1	3	4	2	0	1	rs201419897		TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr14:38061705C>G	ENST00000250448.2	-	2	345	c.284G>C	c.(283-285)aGc>aCc	p.S95T	FOXA1_ENST00000540786.1_Missense_Mutation_p.S62T|FOXA1_ENST00000545425.2_5'UTR	NM_004496.3	NP_004487.2	P55317	FOXA1_HUMAN	forkhead box A1	95					anatomical structure formation involved in morphogenesis (GO:0048646)|chromatin remodeling (GO:0006338)|dorsal/ventral neural tube patterning (GO:0021904)|epithelial cell maturation involved in prostate gland development (GO:0060743)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|epithelial-mesenchymal signaling involved in prostate gland development (GO:0060738)|glucose homeostasis (GO:0042593)|hormone metabolic process (GO:0042445)|lung epithelial cell differentiation (GO:0060487)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron fate specification (GO:0048665)|positive regulation of cell-cell adhesion mediated by cadherin (GO:2000049)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prostate gland epithelium morphogenesis (GO:0060740)|prostate gland stromal morphogenesis (GO:0060741)|response to estradiol (GO:0032355)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)	microvillus (GO:0005902)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|endometrium(1)|large_intestine(2)|lung(3)|prostate(12)	19	Breast(36;0.0954)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		Lung(238;5.41e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0454)|LUSC - Lung squamous cell carcinoma(13;0.0917)|all cancers(34;0.0925)|BRCA - Breast invasive adenocarcinoma(188;0.239)	GBM - Glioblastoma multiforme(112;0.0222)		CGCAGTCATGCTGTTCATGGC	0.721																																						ENST00000250448.2																			0				breast(1)|endometrium(1)|large_intestine(2)|lung(3)|prostate(12)	19						c.(283-285)aGc>aCc		forkhead box A1																																				SO:0001583	missense	3169				chromatin remodeling|embryo development|epithelial cell maturation involved in prostate gland development|epithelial tube branching involved in lung morphogenesis|epithelial-mesenchymal signaling involved in prostate gland development|glucose homeostasis|lung epithelial cell differentiation|negative regulation of survival gene product expression|neuron fate specification|pattern specification process|positive regulation of estrogen receptor signaling pathway|positive regulation of mitotic cell cycle|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|prostate gland epithelium morphogenesis|prostate gland stromal morphogenesis|response to estradiol stimulus|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development	transcription factor complex	DNA bending activity|double-stranded DNA binding|protein domain specific binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding	g.chr14:38061705C>G	U39840	CCDS9665.1	14q12-q13	2008-04-10		2002-09-20	ENSG00000129514	ENSG00000129514		"Forkhead boxes"	5021	protein-coding gene	gene with protein product		602294	"hepatocyte nuclear factor 3, alpha"	HNF3A		9119385, 8652662	Standard	NM_004496		Approved		uc001wuf.4	P55317	OTTHUMG00000140253	ENST00000250448.2:c.284G>C	14.37:g.38061705C>G	ENSP00000250448:p.Ser95Thr					FOXA1_ENST00000545425.2_5'UTR|FOXA1_ENST00000540786.1_Missense_Mutation_p.S62T	p.S95T	NM_004496.3	NP_004487.2	P55317	FOXA1_HUMAN	Lung(238;5.41e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0454)|LUSC - Lung squamous cell carcinoma(13;0.0917)|all cancers(34;0.0925)|BRCA - Breast invasive adenocarcinoma(188;0.239)	GBM - Glioblastoma multiforme(112;0.0222)	2	345	-	Breast(36;0.0954)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		95					B2R9H6|B7ZAP5|Q9H2A0	Missense_Mutation	SNP	ENST00000250448.2	37	c.284G>C	CCDS9665.1	.	.	.	.	.	.	.	.	.	.	C	15.34	2.805163	0.50315	.	.	ENSG00000129514	ENST00000250448;ENST00000540786	T;T	0.18338	2.22;2.22	3.88	2.01	0.26516	Fork-head N-terminal (1);	0.441308	0.24920	N	0.034551	T	0.11110	0.0271	L	0.34521	1.04	0.32338	N	0.560216	B	0.02656	0.0	B	0.06405	0.002	T	0.26430	-1.0103	10	0.15499	T	0.54	.	9.3552	0.38161	0.151:0.5561:0.2929:0.0	.	95	P55317	FOXA1_HUMAN	T	95;62	ENSP00000250448:S95T;ENSP00000440178:S62T	ENSP00000250448:S95T	S	-	2	0	FOXA1	37131456	1.000000	0.71417	0.998000	0.56505	0.977000	0.68977	4.540000	0.60664	0.298000	0.22638	0.511000	0.50034	AGC		0.721	FOXA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276735.1			12	35	0	0	0	0.00010058	0	12	35					G	38061705	C	G	38061705	3	3	158	1	0	0	0	0	1	0	0	0	5989	797	28	5	1138	5	FOXA1	14	38061705	Missense_Mutation	SNP	C	TCGA-G9-6351-01A-21D-1961-08		38061705	69287835	17	7674											
PRC1	9055	broad.mit.edu	37	chr15	91524744	91524744	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agtacctgccgtagcaacttTtgtagtgttgcaatattctc	9	15	8	9	1	1	0	0	0	1	0	2	0	1	0	2	0	5	6	2	0	6	8			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr15:91524744T>C	ENST00000361188.5	-	5	1868	c.657A>G	c.(655-657)caA>caG	p.Q219Q	PRC1_ENST00000394249.3_Silent_p.Q219Q|PRC1_ENST00000442656.2_Silent_p.Q178Q|PRC1-AS1_ENST00000554388.1_RNA|PRC1_ENST00000556129.1_5'Flank|PRC1_ENST00000361919.3_Silent_p.Q219Q					protein regulator of cytokinesis 1											endometrium(1)|kidney(2)|large_intestine(7)|lung(9)|ovary(3)|prostate(1)|skin(2)	25	Lung NSC(78;0.0987)|all_lung(78;0.175)					GTAGCAACTTTTGTAGTGTTG	0.408																																						ENST00000361188.5																			0				endometrium(1)|kidney(2)|large_intestine(7)|lung(9)|ovary(3)|prostate(1)|skin(2)	25						c.(655-657)caA>caG		protein regulator of cytokinesis 1							131	118	123					15																	91524744		2198	4298	6496	SO:0001819	synonymous_variant	9055				cytokinesis|mitotic spindle elongation	cytoplasm|nucleus|spindle microtubule|spindle pole	protein binding	g.chr15:91524744T>C	AF044588	CCDS32334.1, CCDS45352.1, CCDS45353.1, CCDS45353.2	15q26.1	2013-05-29		2006-07-07	ENSG00000198901	ENSG00000198901			9341	protein-coding gene	gene with protein product	"anaphase spindle elongation 1 homolog (S. cerevisiae)"	603484				9885575	Standard	NM_003981		Approved	ASE1	uc002bqm.4	O43663	OTTHUMG00000171685	ENST00000361188.5:c.657A>G	15.37:g.91524744T>C						PRC1_ENST00000361919.3_Silent_p.Q219Q|PRC1-AS1_ENST00000554388.1_RNA|PRC1_ENST00000394249.3_Silent_p.Q219Q|PRC1_ENST00000442656.2_Silent_p.Q178Q	p.Q219Q			O43663	PRC1_HUMAN			5	1868	-	Lung NSC(78;0.0987)|all_lung(78;0.175)		219			Dimerization.			Silent	SNP	ENST00000361188.5	37	c.657A>G	CCDS45352.1																																																																																				0.408	PRC1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414760.1	NM_003981		4	57	0	0	0	3.59834e-05	0	4	57					C	91524744	T	C	91524744	2	2	158	1	0	0	0	0	0	0	0	1	12446	1838	64	4		4	PRC1	15	91524744	Silent	SNP	T	TCGA-G9-6351-01A-21D-1961-08		91524744	11006648	18	7675											
GRIN2A	2903	broad.mit.edu	37	chr16	10032075	10032075	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aatccagaagaaatcataccCggtgaggccaagggagcggg	14	4	14	9	2	1	3	1	1	0	2	2	4	2	4	3	4	2	0	3	4	5	1			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr16:10032075C>T	ENST00000396573.2	-	4	1057	c.748G>A	c.(748-750)Ggg>Agg	p.G250R	GRIN2A_ENST00000330684.3_Missense_Mutation_p.G250R|GRIN2A_ENST00000396575.2_Missense_Mutation_p.G250R|GRIN2A_ENST00000562109.1_Missense_Mutation_p.G250R|GRIN2A_ENST00000535259.1_Missense_Mutation_p.G93R|GRIN2A_ENST00000566670.1_5'UTR|GRIN2A_ENST00000404927.2_Missense_Mutation_p.G250R	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	250					directional locomotion (GO:0033058)|dopamine metabolic process (GO:0042417)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning or memory (GO:0007611)|memory (GO:0007613)|negative regulation of protein catabolic process (GO:0042177)|neurogenesis (GO:0022008)|positive regulation of apoptotic process (GO:0043065)|protein localization (GO:0008104)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic plasticity (GO:0048167)|response to amphetamine (GO:0001975)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to wounding (GO:0009611)|sensory perception of pain (GO:0019233)|serotonin metabolic process (GO:0042428)|sleep (GO:0030431)|startle response (GO:0001964)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)|visual learning (GO:0008542)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Glycine(DB00145)|Halothane(DB01159)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	AAATCATACCCGGTGAGGCCA	0.512																																						ENST00000396573.2																			0				NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198						c.(748-750)Ggg>Agg		glutamate receptor, ionotropic, N-methyl D-aspartate 2A	Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)						66	61	63					16																	10032075		2197	4300	6497	SO:0001583	missense	0				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	g.chr16:10032075C>T		CCDS10539.1, CCDS45407.1	16p13.2	2012-08-29			ENSG00000183454	ENSG00000183454		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4585	protein-coding gene	gene with protein product		138253		NMDAR2A		9480759	Standard	XM_005255267		Approved	GluN2A	uc002czo.4	Q12879	OTTHUMG00000129721	ENST00000396573.2:c.748G>A	16.37:g.10032075C>T	ENSP00000379818:p.Gly250Arg					GRIN2A_ENST00000330684.3_Missense_Mutation_p.G250R|GRIN2A_ENST00000404927.2_Missense_Mutation_p.G250R|GRIN2A_ENST00000535259.1_Missense_Mutation_p.G93R|GRIN2A_ENST00000562109.1_Missense_Mutation_p.G250R|GRIN2A_ENST00000396575.2_Missense_Mutation_p.G250R|GRIN2A_ENST00000566670.1_5'UTR	p.G250R	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN			4	1057	-			250					O00669|Q17RZ6	Missense_Mutation	SNP	ENST00000396573.2	37	c.748G>A	CCDS10539.1	.	.	.	.	.	.	.	.	.	.	c	29.7	5.028958	0.93518	.	.	ENSG00000183454	ENST00000396573;ENST00000404927;ENST00000535259;ENST00000330684;ENST00000396575	D;D;D;D;D	0.89485	-2.52;-2.52;-2.52;-2.52;-2.52	5.2	5.2	0.72013	Extracellular ligand-binding receptor (1);	0.050671	0.85682	D	0.000000	D	0.95204	0.8445	M	0.87758	2.905	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.97110	0.933;0.978;1.0	D	0.95374	0.8467	9	.	.	.	.	18.0961	0.89490	0.0:1.0:0.0:0.0	.	93;250;250	F5GZ52;Q17RZ6;Q12879	.;.;NMDE1_HUMAN	R	250;250;93;250;250	ENSP00000379818:G250R;ENSP00000385872:G250R;ENSP00000441572:G93R;ENSP00000332549:G250R;ENSP00000379820:G250R	.	G	-	1	0	GRIN2A	9939576	1.000000	0.71417	0.915000	0.36163	0.985000	0.73830	7.665000	0.83852	2.582000	0.87167	0.561000	0.74099	GGG		0.512	GRIN2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251930.3			9	71	0	0	0	0.000673444	0	9	71					T	10032075	C	T	10032075	3	4	158	1	0	0	0	0	1	0	0	0	6779	652	23	2	3690	2	GRIN2A	16	10032075	Missense_Mutation	SNP	C	TCGA-G9-6351-01A-21D-1961-08		10032075	80322678	19	7676											
DHX33	56919	broad.mit.edu	37	chr17	5366889	5366889	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcttctcatctgagactctaGtagcaagagagatggcagct	11	11	10	9	0	4	3	1	1	4	3	5	5	4	3	0	1	2	4	0	1	3	3			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr17:5366889G>C	ENST00000225296.3	-	2	610	c.410C>G	c.(409-411)aCt>aGt	p.T137S	DHX33_ENST00000433302.3_Intron	NM_001199699.1|NM_020162.3	NP_001186628.1|NP_064547.2	Q9H6R0	DHX33_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 33	137	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				positive regulation of transcription from RNA polymerase I promoter (GO:0045943)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)|rDNA binding (GO:0000182)			breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						TGAGACTCTAGTAGCAAGAGA	0.512																																						ENST00000225296.3																			0				breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						c.(409-411)aCt>aGt		DEAH (Asp-Glu-Ala-His) box polypeptide 33							121	116	118					17																	5366889		2203	4300	6503	SO:0001583	missense	56919					nucleolus	ATP binding|ATP-dependent helicase activity|nucleic acid binding	g.chr17:5366889G>C	AL359945	CCDS11072.1	17p13	2003-06-13	2003-06-13	2003-06-13	ENSG00000005100	ENSG00000005100		"DEAH-boxes"	16718	protein-coding gene	gene with protein product		614405	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 33"	DDX33			Standard	NM_020162		Approved	FLJ21972, DKFZp762F2011	uc002gca.3	Q9H6R0	OTTHUMG00000102041	ENST00000225296.3:c.410C>G	17.37:g.5366889G>C	ENSP00000225296:p.Thr137Ser					DHX33_ENST00000433302.3_Intron	p.T137S	NM_001199699.1|NM_020162.3	NP_001186628.1|NP_064547.2	Q9H6R0	DHX33_HUMAN			2	610	-			137			Helicase ATP-binding.		B4DHF9|Q4G149|Q5CZ73|Q9H5M9	Missense_Mutation	SNP	ENST00000225296.3	37	c.410C>G	CCDS11072.1	.	.	.	.	.	.	.	.	.	.	G	13.83	2.354833	0.41700	.	.	ENSG00000005100	ENST00000225296	T	0.07688	3.17	5.04	5.04	0.67666	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.157579	0.56097	D	0.000028	T	0.08626	0.0214	L	0.27053	0.805	0.80722	D	1	B	0.17038	0.02	B	0.15870	0.014	T	0.15694	-1.0428	10	0.62326	D	0.03	.	17.3684	0.87369	0.0:0.0:1.0:0.0	.	137	Q9H6R0	DHX33_HUMAN	S	137	ENSP00000225296:T137S	ENSP00000225296:T137S	T	-	2	0	DHX33	5307613	0.837000	0.29446	0.980000	0.43619	0.997000	0.91878	3.885000	0.56182	2.340000	0.79590	0.563000	0.77884	ACT		0.512	DHX33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219826.2	NM_020162		3	157	0	0	0	0.00024832	0	3	157					C	5366889	G	C	5366889	3	2	158	1	0	0	0	0	1	0	0	0	4506	1029	36	5	1757	5	DHX33	17	5366889	Missense_Mutation	SNP	G	TCGA-G9-6351-01A-21D-1961-08		5366889	75828321	20	7677											
ZNF287	57336	broad.mit.edu	37	chr17	16467045	16467045	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgttccaatagttctgtaacGtcacagtcttgtataattcc	10	16	6	9	1	3	0	1	0	2	0	5	0	5	0	2	0	1	4	2	0	5	8			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr17:16467045G>A	ENST00000395824.1	-	4	1213	c.596C>T	c.(595-597)aCg>aTg	p.T199M	ZNF287_ENST00000395825.3_Missense_Mutation_p.T199M			Q9HBT7	ZN287_HUMAN	zinc finger protein 287	192	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cytokine biosynthetic process (GO:0042035)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(5)|prostate(1)|urinary_tract(1)	20				UCEC - Uterine corpus endometrioid carcinoma (92;0.083)		GTTCTGTAACGTCACAGTCTT	0.458																																						ENST00000395824.1																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(5)|prostate(1)|urinary_tract(1)	20						c.(595-597)aCg>aTg		zinc finger protein 287							218	149	172					17																	16467045		2203	4300	6503	SO:0001583	missense	57336				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr17:16467045G>A	AF217227	CCDS11179.2	17p11.2	2013-01-09			ENSG00000141040	ENSG00000141040		"Zinc fingers, C2H2-type", "-", "-", "-"	13502	protein-coding gene	gene with protein product							Standard	NM_020653		Approved	ZKSCAN13, ZSCAN45	uc002gqi.2	Q9HBT7	OTTHUMG00000058993	ENST00000395824.1:c.596C>T	17.37:g.16467045G>A	ENSP00000379168:p.Thr199Met					ZNF287_ENST00000395825.3_Missense_Mutation_p.T199M	p.T199M			Q9HBT7	ZN287_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.083)	4	1213	-			192			KRAB.		Q6IAG1	Missense_Mutation	SNP	ENST00000395824.1	37	c.596C>T	CCDS11179.2	.	.	.	.	.	.	.	.	.	.	G	4.224	0.040439	0.08148	.	.	ENSG00000141040	ENST00000395825;ENST00000395824	T;T	0.01076	5.37;5.37	4.05	4.05	0.47172	Krueppel-associated box (4);	0.000000	0.46758	D	0.000265	T	0.00845	0.0028	N	0.00252	-1.77	0.31570	N	0.656495	D	0.89917	1.0	D	0.87578	0.998	T	0.58651	-0.7599	10	0.02654	T	1	.	12.0322	0.53403	0.0:0.0:1.0:0.0	.	192	Q9HBT7	ZN287_HUMAN	M	199	ENSP00000379169:T199M;ENSP00000379168:T199M	ENSP00000379168:T199M	T	-	2	0	ZNF287	16407770	0.882000	0.30256	0.783000	0.31826	0.520000	0.34377	2.451000	0.44952	2.539000	0.85634	0.655000	0.94253	ACG		0.458	ZNF287-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130504.1			23	58	0	0	0	0.000229342	0	23	58					A	16467045	G	A	16467045	3	1	158	1	0	0	0	0	1	0	0	0	17822	1145	40	1	1701	1	ZNF287	17	16467045	Missense_Mutation	SNP	G	TCGA-G9-6351-01A-21D-1961-08	11100156	16467045	64728165	21	7678											
CYP4F11	57834	broad.mit.edu	37	chr19	16040400	16040400	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aatgtcttcatgccctcttcCgtgggagtgacctgaaaaca	10	11	9	11	1	3	2	1	2	2	0	4	3	4	3	3	1	2	0	3	1	3	2			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr19:16040400C>A	ENST00000402119.4	-	2	636	c.210G>T	c.(208-210)acG>acT	p.T70T	CYP4F11_ENST00000591841.1_5'Flank|CYP4F11_ENST00000326742.8_Silent_p.T70T|CYP4F11_ENST00000248041.8_Silent_p.T70T	NM_021187.3	NP_067010.3			cytochrome P450, family 4, subfamily F, polypeptide 11											NS(1)|breast(3)|endometrium(4)|large_intestine(2)|lung(11)|ovary(1)|skin(3)	25						TGCCCTCTTCCGTGGGAGTGA	0.517																																						ENST00000326742.7																			0				NS(1)|breast(3)|endometrium(4)|large_intestine(2)|lung(11)|ovary(1)|skin(3)	25						c.(208-210)acG>acT		cytochrome P450, family 4, subfamily F, polypeptide 11							118	118	118					19																	16040400		2203	4300	6503	SO:0001819	synonymous_variant	57834				inflammatory response|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding	g.chr19:16040400C>A	AF236085	CCDS12337.1	19p13.1	2011-07-29	2003-01-14		ENSG00000171903	ENSG00000171903		"Cytochrome P450s"	13265	protein-coding gene	gene with protein product		611517	"cytochrome P450, subfamily IVF, polypeptide 11"			10964514, 9068972	Standard	NM_021187		Approved		uc002nbu.2	Q9HBI6		ENST00000402119.4:c.210G>T	19.37:g.16040400C>A						CYP4F11_ENST00000248041.7_Silent_p.T70T|CYP4F11_ENST00000402119.3_Silent_p.T70T	p.T70T			Q9HBI6	CP4FB_HUMAN			2	211	-			70						Silent	SNP	ENST00000402119.4	37	c.210G>T	CCDS12337.1																																																																																				0.517	CYP4F11-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460385.2	NM_021187		8	128	1	0	0.000157383	0.000157383	0.00287919	8	128					A	16040400	C	A	16040400	2	1	158	1	0	0	0	0	0	0	0	1	4186	639	23	5		5	CYP4F11	19	16040400	Silent	SNP	C	TCGA-G9-6351-01A-21D-1961-08		16040400	43088583	22	7679											
TMPRSS2	7113	broad.mit.edu	37	chr21	42839793	42839793	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atattgttcttcgaagtgacCagaggccctccactgtcacc	9	11	8	13	1	2	2	1	1	1	1	4	3	3	2	4	1	0	1	4	1	2	4			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr21:42839793C>T	ENST00000332149.5	-	13	1469	c.1335G>A	c.(1333-1335)ctG>ctA	p.L445L	TMPRSS2_ENST00000398585.3_Silent_p.L482L|TMPRSS2_ENST00000458356.1_Silent_p.L445L	NM_005656.3	NP_005647.3	O15393	TMPS2_HUMAN	transmembrane protease, serine 2	445	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				positive regulation of viral entry into host cell (GO:0046598)|protein autoprocessing (GO:0016540)|proteolysis (GO:0006508)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)		TMPRSS2/ETV1(34)|TMPRSS2/ETV5_ENST00000306376(5)|TMPRSS2/ERG(3582)|TMPRSS2/ETV4(13)	central_nervous_system(1)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	4		Prostate(19;4.48e-07)|all_epithelial(19;0.031)				TCGAAGTGACCAGAGGCCCTC	0.532			T	"ERG, ETV1, ETV4, ETV5"	prostate																																	ENST00000398585.3				Dom	yes		21	21q22.3	7113	T	"transmembrane protease, serine 2"			E	"ERG, ETV1, ETV4, ETV5"		prostate	TMPRSS2/ETV1(34)|TMPRSS2/ETV5_ENST00000306376(5)|TMPRSS2/ERG(3582)|TMPRSS2/ETV4(13)	0				central_nervous_system(1)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	4						c.(1444-1446)ctG>ctA		transmembrane protease, serine 2							136	124	128					21																	42839793		2203	4300	6503	SO:0001819	synonymous_variant	0				proteolysis	cytoplasm|extracellular region|integral to plasma membrane	scavenger receptor activity|serine-type endopeptidase activity	g.chr21:42839793C>T	U75329	CCDS33564.1, CCDS54486.1	21q22.3	2010-04-13			ENSG00000184012	ENSG00000184012		"Serine peptidases / Transmembrane"	11876	protein-coding gene	gene with protein product		602060				9325052	Standard	NM_005656		Approved	PRSS10	uc010gor.3	O15393	OTTHUMG00000086762	ENST00000332149.5:c.1335G>A	21.37:g.42839793C>T						TMPRSS2_ENST00000458356.1_Silent_p.L445L|TMPRSS2_ENST00000332149.5_Silent_p.L445L	p.L482L	NM_001135099.1	NP_001128571.1	O15393	TMPS2_HUMAN			13	1506	-		Prostate(19;4.48e-07)|all_epithelial(19;0.031)	445			Peptidase S1.		A8K6Z8|B2R8E5|B7Z459|D3DSJ2|F8WES1|Q6GTK7|Q9BXX1	Silent	SNP	ENST00000332149.5	37	c.1446G>A	CCDS33564.1																																																																																				0.532	TMPRSS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195189.1			8	78	0	0	0	0.000157383	0	8	78					T	42839793	C	T	42839793	2	4	158	1	0	0	0	0	0	0	0	1	16244	581	21	3		3	TMPRSS2	21	42839793	Silent	SNP	C	TCGA-G9-6351-01A-21D-1961-08		42839793	5290102	23	7680											
SMCR7L	54471	broad.mit.edu	37	chr22	39910032	39910032	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccgatctctgtgcctcaagAtcctcaaggccatatgcaag	10	9	9	13	1	3	1	2	0	1	1	5	2	4	1	4	1	2	1	4	1	4	1			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr22:39910032A>T	ENST00000325301.2	+	6	1520	c.1096A>T	c.(1096-1098)Atc>Ttc	p.I366F	MIEF1_ENST00000402881.1_Missense_Mutation_p.I366F|MIEF1_ENST00000404569.1_Missense_Mutation_p.I366F	NM_019008.4	NP_061881.2	Q9NQG6	MID51_HUMAN	mitochondrial elongation factor 1	366					mitochondrial fission (GO:0000266)|positive regulation of mitochondrial fission (GO:0090141)|positive regulation of protein targeting to membrane (GO:0090314)	integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	ADP binding (GO:0043531)|GDP binding (GO:0019003)|identical protein binding (GO:0042802)										GTGCCTCAAGATCCTCAAGGC	0.642											OREG0026577	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000325301.2																			0				central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(1)|liver(1)|lung(6)|ovary(1)|skin(1)	16						c.(1096-1098)Atc>Ttc									65	57	60					22																	39910032		2203	4300	6503	SO:0001583	missense	0					integral to membrane|mitochondrion		g.chr22:39910032A>T	AL365515	CCDS13995.1	22q13.1	2013-09-23	2013-09-23	2013-09-23	ENSG00000100335	ENSG00000100335			25979	protein-coding gene	gene with protein product		615497	"Smith-Magenis syndrome chromosome region, candidate 7-like"	SMCR7L		21508961, 21701560	Standard	NM_019008		Approved	FLJ20232, MiD51	uc003axx.3	Q9NQG6	OTTHUMG00000151105	ENST00000325301.2:c.1096A>T	22.37:g.39910032A>T	ENSP00000327124:p.Ile366Phe		OREG0026577	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	889	SMCR7L_ENST00000404569.1_Missense_Mutation_p.I366F|SMCR7L_ENST00000402881.1_Missense_Mutation_p.I366F	p.I366F	NM_019008.4	NP_061881.2	Q9NQG6	SMC7L_HUMAN			6	1520	+	Melanoma(58;0.04)		366					Q7L890|Q9BUI3	Missense_Mutation	SNP	ENST00000325301.2	37	c.1096A>T	CCDS13995.1	.	.	.	.	.	.	.	.	.	.	A	16.38	3.108205	0.56291	.	.	ENSG00000100335	ENST00000402881;ENST00000325301;ENST00000404569	T;T;T	0.10477	2.87;2.87;2.87	6.07	5.03	0.67393	.	0.149661	0.64402	D	0.000009	T	0.18964	0.0455	M	0.63843	1.955	0.58432	D	0.999996	B;P	0.43542	0.395;0.81	B;P	0.47528	0.261;0.549	T	0.00363	-1.1788	10	0.56958	D	0.05	-22.229	12.4059	0.55439	0.9338:0.0:0.0662:0.0	.	366;366	Q9NQG6;B0QY95	MID51_HUMAN;.	F	366	ENSP00000385110:I366F;ENSP00000327124:I366F;ENSP00000385191:I366F	ENSP00000327124:I366F	I	+	1	0	SMCR7L	38239978	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.903000	0.48711	2.326000	0.78906	0.533000	0.62120	ATC		0.642	MIEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321325.1	NM_019008		14	74	0	0	0	0.000566183	0	14	74					T	39910032	A	T	39910032	3	4	158	1	0	0	0	0	1	0	0	0	14791	333	12	5	1110	5	SMCR7L	22	39910032	Missense_Mutation	SNP	A	TCGA-G9-6351-01A-21D-1961-08		39910032	11394534	24	7681											
SHOX	6473	broad.mit.edu	37	chrX	591826	591826	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catcacggagggcggcggccActgcccggtgcatttgttca	6	8	14	13	4	2	0	2	0	0	0	2	1	2	1	2	5	2	2	2	5	0	2			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chrX:591826A>T	ENST00000554971.1	+	1	285	c.194A>T	c.(193-195)cAc>cTc	p.H65L	SHOX_ENST00000381575.1_Missense_Mutation_p.H65L|SHOX_ENST00000334060.3_Missense_Mutation_p.H65L|SHOX_ENST00000381578.1_Missense_Mutation_p.H65L			O15266	SHOX_HUMAN	short stature homeobox	65					skeletal system development (GO:0001501)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|lung(9)|prostate(1)	13		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				GGCGGCGGCCACTGCCCGGTG	0.587																																					Ovarian(95;18 1419 12424 14056 28266)	ENST00000381578.1																			0				endometrium(3)|lung(9)|prostate(1)	13						c.(193-195)cAc>cTc		short stature homeobox							76	92	86					X																	591826		2203	4296	6499	SO:0001583	missense	6473				skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chrX:591826A>T	U82668	CCDS14106.1, CCDS14107.1	Xp22.33 and Yp11.32	2014-07-16			ENSG00000185960	ENSG00000185960		"Pseudoautosomal regions / PAR1", "Homeoboxes / PRD class"	10853	protein-coding gene	gene with protein product		312865, 400020				9259282, 9140395	Standard	XR_247282		Approved	PHOG, GCFX, SS, SHOXY	uc004cph.1	O15266	OTTHUMG00000021053	ENST00000554971.1:c.194A>T	X.37:g.591826A>T	ENSP00000452016:p.His65Leu					SHOX_ENST00000334060.3_Missense_Mutation_p.H65L|SHOX_ENST00000381575.1_Missense_Mutation_p.H65L|SHOX_ENST00000554971.1_Missense_Mutation_p.H65L	p.H65L	NM_000451.3	NP_000442.1	O15266	SHOX_HUMAN			2	885	+		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)	65					O00412|O00413|O15267	Missense_Mutation	SNP	ENST00000554971.1	37	c.194A>T	CCDS14107.1	.	.	.	.	.	.	.	.	.	.	A	0.141	-1.102484	0.01828	.	.	ENSG00000185960	ENST00000334060;ENST00000381578;ENST00000554971;ENST00000381575	D;D;D;D	0.94092	-3.35;-3.22;-3.22;-3.35	2.26	0.809	0.18725	.	0.532229	0.16071	N	0.231003	D	0.87398	0.6167	L	0.54323	1.7	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.04013	0.001;0.0	T	0.70920	-0.4741	10	0.16420	T	0.52	.	3.9423	0.09333	0.6574:0.2124:0.1302:0.0	.	65;65	O15266-2;O15266	.;SHOX_HUMAN	L	65	ENSP00000335505:H65L;ENSP00000370990:H65L;ENSP00000452016:H65L;ENSP00000370987:H65L	ENSP00000335505:H65L	H	+	2	0	SHOX	511826	1.000000	0.71417	0.966000	0.40874	0.399000	0.30720	4.031000	0.57267	0.631000	0.30412	0.227000	0.17789	CAC		0.587	SHOX-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411999.3	NM_000451		22	141	0	0	0	0.000295444	0	22	141					T	591826	A	T	591826	3	4	158	1	0	0	0	0	1	0	0	0	14288	159	6	5	196	5	SHOX	23	591826	Missense_Mutation	SNP	A	TCGA-G9-6351-01A-21D-1961-08		591826	154678734	25	7682											
RGAG4	340526	broad.mit.edu	37	chrX	71349790	71349790	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gttgtcctaaacgacctgtgCggcgaatcagttggggggag	8	9	16	8	3	1	0	1	0	0	0	2	3	2	1	2	4	2	2	2	4	3	3			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chrX:71349790C>T	ENST00000545866.1	-	1	1968	c.1601G>A	c.(1600-1602)cGc>cAc	p.R534H	RGAG4_ENST00000609883.1_Missense_Mutation_p.R534H|NHSL2_ENST00000540800.1_Intron	NM_001024455.3	NP_001019626.1	Q5HYW3	RGAG4_HUMAN	retrotransposon gag domain containing 4	534										cervix(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(8)|ovary(3)|skin(1)	24	Renal(35;0.156)					ACGACCTGTGCGGCGAATCAG	0.587																																						ENST00000545866.1																			0				cervix(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(8)|ovary(3)|skin(1)	24						c.(1600-1602)cGc>cAc		retrotransposon gag domain containing 4							47	49	48					X																	71349790		1954	4119	6073	SO:0001583	missense	340526							g.chrX:71349790C>T	AB082532	CCDS55446.1	Xq13.1	2008-02-05			ENSG00000242732	ENSG00000242732			29430	protein-coding gene	gene with protein product						12056414, 15716091, 16093683	Standard	NM_001024455		Approved	KIAA2001, Mar5, Mart5	uc004eaj.2	Q5HYW3	OTTHUMG00000021808	ENST00000545866.1:c.1601G>A	X.37:g.71349790C>T	ENSP00000441366:p.Arg534His					NHSL2_ENST00000540800.1_Intron|RGAG4_ENST00000479991.1_Missense_Mutation_p.R534H	p.R534H			Q5HYW3	RGAG4_HUMAN			1	1968	-	Renal(35;0.156)		534					A7E2W7|Q8NCM4|Q9NPX1	Missense_Mutation	SNP	ENST00000545866.1	37	c.1601G>A	CCDS55446.1	.	.	.	.	.	.	.	.	.	.	C	6.401	0.442073	0.12164	.	.	ENSG00000242732	ENST00000545866;ENST00000479991	T;T	0.12465	2.68;2.68	4.11	1.32	0.21799	.	.	.	.	.	T	0.05686	0.0149	N	0.08118	0	0.09310	N	1	B	0.18310	0.027	B	0.08055	0.003	T	0.43988	-0.9357	8	.	.	.	-0.5526	5.3655	0.16111	0.0:0.5996:0.0:0.4004	.	534	Q5HYW3	RGAG4_HUMAN	H	534	ENSP00000441366:R534H;ENSP00000418667:R534H	.	R	-	2	0	RGAG4	71266515	0.209000	0.23505	0.010000	0.14722	0.017000	0.09413	0.307000	0.19296	0.141000	0.18875	0.513000	0.50165	CGC		0.587	RGAG4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057171.1	NM_001024455		5	16	0	0	0	3.59834e-05	0	5	16					T	71349790	C	T	71349790	3	4	158	1	0	0	0	0	1	0	0	0	13275	768	27	1	112	1	RGAG4	23	71349790	Missense_Mutation	SNP	C	TCGA-G9-6351-01A-21D-1961-08	70757964	71349790	83920770	26	7683											
ZCCHC16	340595	broad.mit.edu	37	chrX	111698033	111698033	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggcagagaatctgattctgcGgcttcaaatgcagcatccaa	12	9	10	10	1	3	2	1	1	2	1	4	3	4	2	1	2	3	4	1	2	3	2			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chrX:111698033G>A	ENST00000340433.2	+	1	307	c.77G>A	c.(76-78)cGg>cAg	p.R26Q		NM_001004308.2	NP_001004308.2	Q6ZR62	ZCH16_HUMAN	zinc finger, CCHC domain containing 16	26							nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	27						CTGATTCTGCGGCTTCAAATG	0.507																																						ENST00000340433.2																			0				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	27						c.(76-78)cGg>cAg		zinc finger, CCHC domain containing 16							104	83	90					X																	111698033		2203	4300	6503	SO:0001583	missense	340595						nucleic acid binding|zinc ion binding	g.chrX:111698033G>A	AK128465	CCDS35369.1	Xq23	2008-05-02			ENSG00000187823	ENSG00000187823		"Zinc fingers, CCHC domain containing"	25214	protein-coding gene	gene with protein product						15716091, 16093683	Standard	NM_001004308		Approved	Mart4, Mar4, FLJ46608	uc004epo.1	Q6ZR62	OTTHUMG00000159706	ENST00000340433.2:c.77G>A	X.37:g.111698033G>A	ENSP00000340590:p.Arg26Gln						p.R26Q	NM_001004308.2	NP_001004308.2	Q6ZR62	ZCH16_HUMAN			1	307	+			26					B2RPG1	Missense_Mutation	SNP	ENST00000340433.2	37	c.77G>A	CCDS35369.1	.	.	.	.	.	.	.	.	.	.	G	0.004	-2.272347	0.00257	.	.	ENSG00000187823	ENST00000340433	T	0.40476	1.03	4.19	0.132	0.14762	.	1.168870	0.06734	N	0.777208	T	0.15609	0.0376	N	0.04203	-0.255	0.09310	N	1	B	0.10296	0.003	B	0.01281	0.0	T	0.24012	-1.0172	10	0.02654	T	1	0.0024	3.2923	0.06953	0.5601:0.2067:0.2332:0.0	.	26	Q6ZR62	ZCH16_HUMAN	Q	26	ENSP00000340590:R26Q	ENSP00000340590:R26Q	R	+	2	0	ZCCHC16	111584689	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.224000	0.09164	-0.036000	0.13669	-0.354000	0.07668	CGG		0.507	ZCCHC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356964.1	NM_001004308		14	44	0	0	0	0.000219431	0	14	44					A	111698033	G	A	111698033	3	1	158	1	0	0	0	0	1	0	0	0	17581	1116	39	2	79	2	ZCCHC16	23	111698033	Missense_Mutation	SNP	G	TCGA-G9-6351-01A-21D-1961-08	40348243	111698033	43572527	27	7684											
BRS3	680	broad.mit.edu	37	chrX	135572582	135572582	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctactattccttgattgctaGgaccctttacaaaagcaccc	11	12	5	13	0	0	1	0	1	0	0	1	2	1	2	3	1	4	2	3	1	6	8			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chrX:135572582G>A	ENST00000370648.3	+	2	953	c.725G>A	c.(724-726)aGg>aAg	p.R242K		NM_001727.1	NP_001718.1	P32247	BRS3_HUMAN	bombesin-like receptor 3	242					adult feeding behavior (GO:0008343)|glucose metabolic process (GO:0006006)|regulation of blood pressure (GO:0008217)	integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	bombesin receptor activity (GO:0004946)			endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|pancreas(1)|prostate(1)	23	Acute lymphoblastic leukemia(192;0.000127)					TTGATTGCTAGGACCCTTTAC	0.388																																						ENST00000370648.3																			0				endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|pancreas(1)|prostate(1)	23						c.(724-726)aGg>aAg		bombesin-like receptor 3							79	74	76					X																	135572582		2203	4299	6502	SO:0001583	missense	680				adult feeding behavior|glucose metabolic process|regulation of blood pressure	integral to membrane|plasma membrane	bombesin receptor activity	g.chrX:135572582G>A		CCDS14656.1	Xq26.3	2014-02-21			ENSG00000102239	ENSG00000102239		"GPCR / Class A : Bombesin receptors"	1113	protein-coding gene	gene with protein product		300107				8383682	Standard	NM_001727		Approved	BB3	uc004ezv.1	P32247	OTTHUMG00000022726	ENST00000370648.3:c.725G>A	X.37:g.135572582G>A	ENSP00000359682:p.Arg242Lys						p.R242K	NM_001727.1	NP_001718.1	P32247	BRS3_HUMAN			2	953	+	Acute lymphoblastic leukemia(192;0.000127)		242						Missense_Mutation	SNP	ENST00000370648.3	37	c.725G>A	CCDS14656.1	.	.	.	.	.	.	.	.	.	.	G	6.919	0.539156	0.13250	.	.	ENSG00000102239	ENST00000370648	T	0.38401	1.14	5.45	1.69	0.24217	GPCR, rhodopsin-like superfamily (1);	0.279698	0.35970	N	0.002867	T	0.21186	0.0510	N	0.25094	0.71	0.32089	N	0.592179	B	0.09022	0.002	B	0.15052	0.012	T	0.17961	-1.0352	10	0.24483	T	0.36	-2.1984	8.7869	0.34825	0.3786:0.0:0.6214:0.0	.	242	P32247	BRS3_HUMAN	K	242	ENSP00000359682:R242K	ENSP00000359682:R242K	R	+	2	0	BRS3	135400248	0.011000	0.17503	0.898000	0.35279	0.987000	0.75469	-0.004000	0.12878	0.142000	0.18901	-0.192000	0.12808	AGG		0.388	BRS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059005.1	NM_001727		13	20	0	0	0	0.000219431	0	13	20					A	135572582	G	A	135572582	3	1	158	1	0	0	0	0	1	0	0	0	1522	1000	35	3	731	3	BRS3	23	135572582	Missense_Mutation	SNP	G	TCGA-G9-6351-01A-21D-1961-08	23874549	135572582	19697978	28	7685											
HIVEP3	59269	broad.mit.edu	37	chr1	41978662	41978662	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ctgaccgtggtggtgactcgGcctgacctggagaccatctc	6	9	13	13	2	1	4	0	3	1	1	3	5	1	4	4	4	0	0	4	4	0	0			TCGA-G9-6353-01A-11D-1961-08	TCGA-G9-6353-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8b6ecad-0b33-446c-b7f5-6ad7a95ca260	8c34b0c6-72f2-4a77-a188-e4148283941d	g.chr1:41978662G>A	ENST00000372583.1	-	8	7115	c.6230C>T	c.(6229-6231)gCc>gTc	p.A2077V	HIVEP3_ENST00000429157.2_Missense_Mutation_p.A2077V|HIVEP3_ENST00000460604.1_5'UTR|HIVEP3_ENST00000372584.1_Missense_Mutation_p.A2077V|HIVEP3_ENST00000247584.5_Missense_Mutation_p.A2077V	NM_024503.4	NP_078779.2	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	2077	6 X 4 AA tandem repeats of S-P-X-[RK].				positive regulation of transcription, DNA-templated (GO:0045893)|skeletal muscle cell differentiation (GO:0035914)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				TGGTGACTCGGCCTGACCTGG	0.687																																						ENST00000372584.1																			0				NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85						c.(6229-6231)gCc>gTc		human immunodeficiency virus type I enhancer binding protein 3							33	30	31					1																	41978662		2203	4300	6503	SO:0001583	missense	59269				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding	g.chr1:41978662G>A	AF278765	CCDS463.1, CCDS44124.1	1p34	2013-01-08	2001-11-28		ENSG00000127124	ENSG00000127124		"Zinc fingers, C2H2-type"	13561	protein-coding gene	gene with protein product	"kappabinding protein-1"	606649	"human immunodeficiency virus type I enhancer-binding protein 3"			11161801	Standard	NR_038260		Approved	KRC, KBP1, KBP-1, SHN3, FLJ16752, KIAA1555, ZAS3, Schnurri-3, ZNF40C	uc001cha.4	Q5T1R4	OTTHUMG00000006361	ENST00000372583.1:c.6230C>T	1.37:g.41978662G>A	ENSP00000361664:p.Ala2077Val					HIVEP3_ENST00000247584.5_Missense_Mutation_p.A2077V|HIVEP3_ENST00000429157.2_Missense_Mutation_p.A2077V|HIVEP3_ENST00000372583.1_Missense_Mutation_p.A2077V|HIVEP3_ENST00000460604.1_5'UTR	p.A2077V	NM_001127714.2	NP_001121186.1	Q5T1R4	ZEP3_HUMAN			7	7244	-	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)	2077			6 X 4 AA tandem repeats of S-P-X-[RK].		A7YY91|Q5T1R5|Q9BZS0|Q9HCL7	Missense_Mutation	SNP	ENST00000372583.1	37	c.6230C>T	CCDS463.1	.	.	.	.	.	.	.	.	.	.	G	24.8	4.570604	0.86542	.	.	ENSG00000127124	ENST00000372584;ENST00000372583;ENST00000247584;ENST00000429157	T;T;T;T	0.06218	3.34;3.33;3.33;3.34	4.65	4.65	0.58169	.	0.465044	0.18293	N	0.145668	T	0.05960	0.0155	N	0.24115	0.695	0.38023	D	0.934924	P;P	0.40731	0.728;0.608	B;B	0.36186	0.219;0.109	T	0.49263	-0.8958	10	0.40728	T	0.16	-3.7875	17.4682	0.87639	0.0:0.0:1.0:0.0	.	2077;2077	Q5T1R4-2;Q5T1R4	.;ZEP3_HUMAN	V	2077	ENSP00000361665:A2077V;ENSP00000361664:A2077V;ENSP00000247584:A2077V;ENSP00000410828:A2077V	ENSP00000247584:A2077V	A	-	2	0	HIVEP3	41751249	0.995000	0.38212	0.997000	0.53966	0.977000	0.68977	3.387000	0.52501	2.267000	0.75376	0.655000	0.94253	GCC		0.687	HIVEP3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000016978.1	NM_024503		3	43	0	0	0	0.004672	0	3	43					A	41978662	G	A	41978662	3	1	159	1	0	0	0	0	1	0	0	0	7188	1203	42	3	998	3	HIVEP3	1	41978662	Missense_Mutation	SNP	G	TCGA-G9-6353-01A-11D-1961-08		41978662	207271959	1	7686											
PTCH2	8643	broad.mit.edu	37	chr1	45296670	45296670	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aagggacccagctcctccagCagctgctctggatccaggtt	8	8	11	14	0	1	0	0	0	1	0	4	2	4	2	4	3	4	5	4	3	1	1			TCGA-G9-6353-01A-11D-1961-08	TCGA-G9-6353-11A-02D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8b6ecad-0b33-446c-b7f5-6ad7a95ca260	d3af2d8c-acc9-4f61-8ccb-79909bd3d439	g.chr1:45296670C>T	ENST00000372192.3	-	6	793	c.663G>A	c.(661-663)ctG>ctA	p.L221L	PTCH2_ENST00000447098.2_Silent_p.L221L	NM_003738.4	NP_003729.3	Q9Y6C5	PTC2_HUMAN	patched 2	221					epidermis development (GO:0008544)|hair cycle (GO:0042633)|negative regulation of smoothened signaling pathway (GO:0045879)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	hedgehog family protein binding (GO:0097108)|hedgehog receptor activity (GO:0008158)|smoothened binding (GO:0005119)			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	50	Acute lymphoblastic leukemia(166;0.155)					GCTCCTCCAGCAGCTGCTCTG	0.632									Basal Cell Nevus syndrome																													ENST00000447098.2																			0				NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	50						c.(661-663)ctG>ctA		patched 2							30	32	31					1																	45296670		2203	4300	6503	SO:0001819	synonymous_variant	8643	Basal Cell Nevus syndrome	Familial Cancer Database	Gorlin syndrome, Gorlin-Golz syndrome, Naevoid Basal Cell Carcinoma syndrome, NBCCS	protein complex assembly|spermatogenesis	integral to plasma membrane	hedgehog receptor activity	g.chr1:45296670C>T	AF091501	CCDS516.1, CCDS53312.1	1p34.1	2010-06-24	2010-06-24		ENSG00000117425	ENSG00000117425			9586	protein-coding gene	gene with protein product		603673	"patched (Drosophila) homolog 2", "patched homolog 2 (Drosophila)"			9811851, 9931336	Standard	NM_003738		Approved		uc010olf.2	Q9Y6C5	OTTHUMG00000008490	ENST00000372192.3:c.663G>A	1.37:g.45296670C>T						PTCH2_ENST00000372192.3_Silent_p.L221L	p.L221L	NM_001166292.1	NP_001159764.1	Q9Y6C5	PTC2_HUMAN			6	674	-	Acute lymphoblastic leukemia(166;0.155)		221					O95341|O95856|Q53Z57|Q5QP87|Q6UX14	Silent	SNP	ENST00000372192.3	37	c.663G>A	CCDS516.1																																																																																				0.632	PTCH2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000023428.4	NM_003738		7	41	0	0	0	0.038147	0	7	41					T	45296670	C	T	45296670	2	4	159	1	0	0	0	0	0	0	0	1	12731	697	25	3		3	PTCH2	1	45296670	Silent	SNP	C	TCGA-G9-6353-01A-11D-1961-08	3318008	45296670	203953951	2	7687											
KIRREL	55243	broad.mit.edu	37	chr1	158057909	158057909	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgaggttcacaacaaagtggGaagcaccaatgtcagcactt	14	8	10	9	0	2	1	2	1	0	0	2	2	2	2	1	2	3	3	1	2	4	2			TCGA-G9-6353-01A-11D-1961-08	TCGA-G9-6353-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8b6ecad-0b33-446c-b7f5-6ad7a95ca260	8c34b0c6-72f2-4a77-a188-e4148283941d	g.chr1:158057909G>T	ENST00000359209.6	+	7	948	c.881G>T	c.(880-882)gGa>gTa	p.G294V	KIRREL_ENST00000416935.2_Missense_Mutation_p.G194V|KIRREL_ENST00000368173.3_Missense_Mutation_p.G294V|KIRREL_ENST00000368172.1_Missense_Mutation_p.G92V|KIRREL_ENST00000360089.4_Missense_Mutation_p.G130V|KIRREL_ENST00000392272.2_Missense_Mutation_p.G191V			Q96J84	KIRR1_HUMAN	kin of IRRE like (Drosophila)	294	Ig-like C2-type 3.				excretion (GO:0007588)|negative regulation of protein phosphorylation (GO:0001933)|positive regulation of actin filament polymerization (GO:0030838)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|dendritic shaft (GO:0043198)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	myosin binding (GO:0017022)			NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(5)|skin(3)|stomach(1)	38	all_hematologic(112;0.0378)					AACAAAGTGGGAAGCACCAAT	0.522											OREG0013906	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000368172.1																			0				NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(5)|skin(3)|stomach(1)	38						c.(274-276)gGa>gTa		kin of IRRE like (Drosophila)							136	143	141					1																	158057909		2203	4300	6503	SO:0001583	missense	55243					integral to membrane		g.chr1:158057909G>T	AK001707	CCDS1172.2, CCDS72952.1	1q21-q25	2013-01-29			ENSG00000183853	ENSG00000183853		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	15734	protein-coding gene	gene with protein product	"nephrin-like protein 1"	607428				12424224	Standard	NM_001286349		Approved	NEPH1	uc001frn.4	Q96J84	OTTHUMG00000022438	ENST00000359209.6:c.881G>T	1.37:g.158057909G>T	ENSP00000352138:p.Gly294Val		OREG0013906	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1790	KIRREL_ENST00000392272.2_Missense_Mutation_p.G191V|KIRREL_ENST00000359209.6_Missense_Mutation_p.G294V|KIRREL_ENST00000416935.2_Missense_Mutation_p.G194V|KIRREL_ENST00000368173.3_Missense_Mutation_p.G294V|KIRREL_ENST00000360089.4_Missense_Mutation_p.G130V	p.G92V			Q96J84	KIRR1_HUMAN			3	287	+	all_hematologic(112;0.0378)		294			Ig-like C2-type 1.		Q5W0F8|Q5XKC6|Q7Z696|Q7Z7N8|Q8TB15|Q9H9N1|Q9NVA5	Missense_Mutation	SNP	ENST00000359209.6	37	c.275G>T	CCDS1172.2	.	.	.	.	.	.	.	.	.	.	G	25.5	4.647837	0.87958	.	.	ENSG00000183853	ENST00000360089;ENST00000368173;ENST00000392272;ENST00000359209;ENST00000416935;ENST00000368172	T;T;T;T;T;T	0.23348	1.91;1.91;1.91;1.91;1.91;1.91	5.44	5.44	0.79542	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.44097	D	0.000490	T	0.59032	0.2164	H	0.95504	3.68	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;0.997;1.0;0.997	T	0.72374	-0.4313	10	0.87932	D	0	-37.4022	16.7618	0.85514	0.0:0.0:1.0:0.0	.	194;130;92;294	B4DN67;Q5W0F9;Q5W0G0;Q96J84	.;.;.;KIRR1_HUMAN	V	130;294;191;294;194;92	ENSP00000353202:G130V;ENSP00000357155:G294V;ENSP00000376098:G191V;ENSP00000352138:G294V;ENSP00000389674:G194V;ENSP00000357154:G92V	ENSP00000352138:G294V	G	+	2	0	KIRREL	156324533	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.476000	0.97823	2.557000	0.86248	0.557000	0.71058	GGA		0.522	KIRREL-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058342.3	NM_018240		7	253	1	0	1.12685e-05	0.047766	1.58594e-05	7	253					T	158057909	G	T	158057909	3	4	159	1	0	0	0	0	1	0	0	0	8324	1174	41	5	907	5	KIRREL	1	158057909	Missense_Mutation	SNP	G	TCGA-G9-6353-01A-11D-1961-08	112761239	158057909	91192712	3	7688											
C2orf34	79823	broad.mit.edu	37	chr2	44933479	44933479	+	Splice_Site	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacatgcttggctgggctcaTggtaggtcttttctccattc	5	15	11	10	0	3	0	1	0	2	0	5	1	3	0	1	4	1	4	1	4	1	5			TCGA-G9-6353-01A-11D-1961-08	TCGA-G9-6353-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8b6ecad-0b33-446c-b7f5-6ad7a95ca260	8c34b0c6-72f2-4a77-a188-e4148283941d	g.chr2:44933479T>G	ENST00000378494.3	+	5	535	c.491T>G	c.(490-492)aTg>aGg	p.M164R		NM_024766.4	NP_079042.1	Q7Z624	CMKMT_HUMAN	calmodulin-lysine N-methyltransferase	164						Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	calmodulin-lysine N-methyltransferase activity (GO:0018025)			breast(2)|large_intestine(3)|lung(5)	10						GCTGGGCTCATGGTAGGTCTT	0.483																																						ENST00000378494.3																			0				breast(2)|large_intestine(3)|lung(5)	10						c.e5+1		calmodulin-lysine N-methyltransferase							165	149	154					2																	44933479		2203	4300	6503	SO:0001630	splice_region_variant	79823					cytoplasm	calmodulin-lysine N-methyltransferase activity	g.chr2:44933479T>G		CCDS1820.1	2p21	2011-06-22	2011-03-10	2011-03-10	ENSG00000143919	ENSG00000143919	2.1.1.60		26276	protein-coding gene	gene with protein product	"CaM KMT"	609559	"chromosome 2 open reading frame 34"	C2orf34		20975703	Standard	NM_024766		Approved	CLNMT	uc002rum.3	Q7Z624	OTTHUMG00000128761	ENST00000378494.3:c.492+1T>G	2.37:g.44933479T>G							p.M164_splice	NM_024766.3	NP_079042.1	Q7Z624	CMKMT_HUMAN			5	535	+			164					Q4ZG15|Q53SS6|Q8N6P5|Q9H5G8	Splice_Site	SNP	ENST00000378494.3	37	c.492_splice	CCDS1820.1	.	.	.	.	.	.	.	.	.	.	T	14.58	2.578180	0.45902	.	.	ENSG00000143919	ENST00000378494	T	0.09817	2.94	5.12	5.12	0.69794	.	0.000000	0.85682	D	0.000000	T	0.25195	0.0612	L	0.42245	1.32	0.80722	D	1	D	0.71674	0.998	D	0.79784	0.993	T	0.00617	-1.1642	10	0.42905	T	0.14	-12.4282	15.0951	0.72226	0.0:0.0:0.0:1.0	.	164	Q7Z624	CMKMT_HUMAN	R	164	ENSP00000367755:M164R	ENSP00000367755:M164R	M	+	2	0	CAMKMT	44786983	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.535000	0.67173	2.135000	0.66039	0.533000	0.62120	ATG		0.483	CAMKMT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250678.2	NM_024766	Missense_Mutation	5	155	0	0	0	0.038147	0	5	155					G	44933479	T	G	44933479	5	3	159	1	0	0	0	0	0	0	1	0	2163	1478	51	5	509	5	C2orf34	2	44933479	Splice_Site	SNP	T	TCGA-G9-6353-01A-11D-1961-08		44933479	198265894	4	7689											
PCDHA4	56144	broad.mit.edu	37	chr5	140187629	140187629	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttcattctcaaatgatatttCgccaaatgtgaaatccaagt	14	14	5	8	1	2	2	2	2	1	0	5	2	3	2	2	0	0	0	2	0	5	4			TCGA-G9-6353-01A-11D-1961-08	TCGA-G9-6353-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8b6ecad-0b33-446c-b7f5-6ad7a95ca260	8c34b0c6-72f2-4a77-a188-e4148283941d	g.chr5:140187629C>T	ENST00000530339.1	+	1	857	c.857C>T	c.(856-858)tCg>tTg	p.S286L	PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Missense_Mutation_p.S286L|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000356878.4_Missense_Mutation_p.S286L	NM_018907.2	NP_061730.1	Q9UN74	PCDA4_HUMAN	protocadherin alpha 4	286	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.S286L(1)		breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(6)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AATGATATTTCGCCAAATGTG	0.313																																						ENST00000530339.1																			1	Substitution - Missense(1)	p.S286L(1)	ovary(1)	breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(6)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	78						c.(856-858)tCg>tTg									64	69	67					5																	140187629		2203	4300	6503	SO:0001583	missense	0							g.chr5:140187629C>T	AF152482	CCDS54916.1	5q31	2010-11-26				ENSG00000204967		"Cadherins / Protocadherins : Clustered"	8670	other	complex locus constituent	"ortholog of mouse CNR1, KIAA0345-like 10"	606310				10380929, 10662547	Standard	NM_018907		Approved	CNR1, CRNR1, PCDH-ALPHA4, CNRN1		Q9UN74		ENST00000530339.1:c.857C>T	5.37:g.140187629C>T	ENSP00000435300:p.Ser286Leu					PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000356878.4_Missense_Mutation_p.S286L|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Missense_Mutation_p.S286L	p.S286L	NM_018907.2	NP_061730.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	857	+								O75285|Q2M253	Missense_Mutation	SNP	ENST00000530339.1	37	c.857C>T	CCDS54916.1	.	.	.	.	.	.	.	.	.	.	c	2.680	-0.275652	0.05679	.	.	ENSG00000204967	ENST00000512229;ENST00000356878;ENST00000530339	T;T;T	0.64991	-0.13;-0.13;-0.13	4.34	2.27	0.28462	Cadherin (4);Cadherin-like (1);	1.146100	0.06905	N	0.806657	T	0.53674	0.1811	L	0.49513	1.565	0.09310	N	1	B;B;B	0.26318	0.012;0.04;0.146	B;B;B	0.23419	0.008;0.028;0.046	T	0.44267	-0.9339	10	0.40728	T	0.16	.	5.1496	0.15002	0.1626:0.6295:0.0:0.2079	.	286;286;286	Q9UN74-2;Q9UN74;D6RA20	.;PCDA4_HUMAN;.	L	286	ENSP00000423470:S286L;ENSP00000349344:S286L;ENSP00000435300:S286L	ENSP00000349344:S286L	S	+	2	0	PCDHA4	140167813	0.000000	0.05858	0.036000	0.18154	0.041000	0.13682	-0.105000	0.10907	0.748000	0.32831	0.467000	0.42956	TCG		0.313	PCDHA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372864.2	NM_018907		7	84	0	0	0	0.02938	0	7	84					T	140187629	C	T	140187629	3	4	159	1	0	0	0	0	1	0	0	0	11526	893	31	2	859	2	PCDHA4	5	140187629	Missense_Mutation	SNP	C	TCGA-G9-6353-01A-11D-1961-08		140187629	40727631	5	7690											
CLIC1	1192	broad.mit.edu	37	chr6	31701956	31701956	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtgtcaacggtggtaacatTgaaggtgactcccttgagcc	9	10	13	9	1	1	3	1	3	0	0	2	3	2	3	2	4	3	1	2	4	3	3			TCGA-G9-6353-01A-11D-1961-08	TCGA-G9-6353-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8b6ecad-0b33-446c-b7f5-6ad7a95ca260	8c34b0c6-72f2-4a77-a188-e4148283941d	g.chr6:31701956T>G	ENST00000375780.2	-	3	696	c.124A>C	c.(124-126)Aat>Cat	p.N42H	CLIC1_ENST00000375784.3_Missense_Mutation_p.N42H|CLIC1_ENST00000395892.1_Missense_Mutation_p.N42H|CLIC1_ENST00000375779.2_Missense_Mutation_p.N42H			O00299	CLIC1_HUMAN	chloride intracellular channel 1	42	Required for insertion into the membrane.				chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|platelet aggregation (GO:0070527)|positive regulation of osteoblast differentiation (GO:0045669)|regulation of mitochondrial membrane potential (GO:0051881)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|brush border (GO:0005903)|chloride channel complex (GO:0034707)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	chloride channel activity (GO:0005254)|voltage-gated chloride channel activity (GO:0005247)			central_nervous_system(1)|endometrium(1)|lung(3)|ovary(1)|skin(1)	7						GTGGTAACATTGAAGGTGACT	0.517																																						ENST00000375780.2																			0				central_nervous_system(1)|endometrium(1)|lung(3)|ovary(1)|skin(1)	7						c.(124-126)Aat>Cat		chloride intracellular channel 1							126	95	105					6																	31701956		2203	4300	6503	SO:0001583	missense	1192				signal transduction	brush border|chloride channel complex|cytoplasm|membrane fraction|nuclear membrane|plasma membrane|soluble fraction	protein binding|voltage-gated chloride channel activity	g.chr6:31701956T>G	U93205	CCDS4719.1	6p21.3	2012-09-26			ENSG00000213719	ENSG00000213719		"Ion channels / Chloride channels : Intracellular"	2062	protein-coding gene	gene with protein product		602872				9139710	Standard	NM_001288		Approved	NCC27, p64CLCP	uc003nwr.3	O00299	OTTHUMG00000031103	ENST00000375780.2:c.124A>C	6.37:g.31701956T>G	ENSP00000364935:p.Asn42His					CLIC1_ENST00000375784.3_Missense_Mutation_p.N42H|CLIC1_ENST00000395892.1_Missense_Mutation_p.N42H|CLIC1_ENST00000375779.2_Missense_Mutation_p.N42H	p.N42H			O00299	CLIC1_HUMAN			3	696	-			42			Required for insertion into the membrane.		Q15089|Q502X1	Missense_Mutation	SNP	ENST00000375780.2	37	c.124A>C	CCDS4719.1	.	.	.	.	.	.	.	.	.	.	T	24.0	4.479018	0.84747	.	.	ENSG00000213719	ENST00000375784;ENST00000375779;ENST00000375780;ENST00000395892	T;T;T;T	0.43294	0.95;0.95;0.95;0.95	5.54	5.54	0.83059	Thioredoxin-like fold (2);	0.065732	0.64402	U	0.000016	T	0.39937	0.1097	L	0.52905	1.665	0.54753	D	0.999987	P	0.47962	0.903	P	0.51135	0.66	T	0.41233	-0.9520	10	0.72032	D	0.01	-17.7378	13.6344	0.62215	0.0:0.0:0.0:1.0	.	42	O00299	CLIC1_HUMAN	H	42	ENSP00000364940:N42H;ENSP00000364934:N42H;ENSP00000364935:N42H;ENSP00000379229:N42H	ENSP00000364934:N42H	N	-	1	0	CLIC1	31809935	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	5.805000	0.69143	2.116000	0.64780	0.482000	0.46254	AAT		0.517	CLIC1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076167.3	NM_001288		3	63	0	0	0	0.004672	0	3	63					G	31701956	T	G	31701956	3	3	159	1	0	0	0	0	1	0	0	0	3525	1812	63	5	621	5	CLIC1	6	31701956	Missense_Mutation	SNP	T	TCGA-G9-6353-01A-11D-1961-08		31701956	139413111	6	7691											
TAF11	6882	broad.mit.edu	37	chr6	34846380	34846381	+	Frame_Shift_Ins	INS	-	-	T																															tttggtctagaagaagatgaINStttttttgtgcttcgagtta																								rs139408667		TCGA-G9-6353-01A-11D-1961-08	TCGA-G9-6353-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8b6ecad-0b33-446c-b7f5-6ad7a95ca260	8c34b0c6-72f2-4a77-a188-e4148283941d	g.chr6:34846380_34846381insT	ENST00000361288.4	-	5	753_754	c.622_623insA	c.(622-624)atcfs	p.I208fs	TAF11_ENST00000420584.2_3'UTR|UHRF1BP1_ENST00000452449.2_Intron	NM_005643.3	NP_005634.1	Q15544	TAF11_HUMAN	TAF11 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 28kDa	208					gene expression (GO:0010467)|positive regulation by host of viral transcription (GO:0043923)|regulation of transcription, DNA-templated (GO:0006355)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	Golgi apparatus (GO:0005794)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)	DNA binding (GO:0003677)|protein N-terminus binding (GO:0047485)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|vitamin D receptor binding (GO:0042809)	p.I208fs*>4(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(1)	6						GAAGAAGATGATTTTTTTGTGC	0.421																																						ENST00000361288.4																			1	Deletion - Frameshift(1)	p.I208fs*>4(1)	large_intestine(1)	endometrium(2)|kidney(1)|large_intestine(2)|lung(1)	6						c.(622-624)catfs		TAF11 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 28kDa																																				SO:0001589	frameshift_variant	6882				positive regulation by host of viral transcription|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction	transcription factor TFIID complex	protein N-terminus binding|thyroid hormone receptor binding|transcription coactivator activity|vitamin D receptor binding	g.chr6:34846380_34846381insT	X83928	CCDS4797.1, CCDS59014.1	6p21	2008-02-05	2002-08-29	2001-12-07	ENSG00000064995	ENSG00000064995			11544	protein-coding gene	gene with protein product		600772	"TATA box binding protein (TBP)-associated factor, RNA polymerase II, I, 28kD"	TAF2I		7729427, 8820923	Standard	NM_005643		Approved	TAFII28	uc003ojw.2	Q15544	OTTHUMG00000014556	ENST00000361288.4:c.623dupA	6.37:g.34846387_34846387dupT	ENSP00000354633:p.Ile208fs					TAF11_ENST00000420584.2_3'UTR|UHRF1BP1_ENST00000452449.2_Intron	p.H208fs	NM_005643.3	NP_005634.1	Q15544	TAF11_HUMAN			5	753_754	-			208					B2R8R3|B4DY18|Q9UHS0	Frame_Shift_Ins	INS	ENST00000361288.4	37	c.622_623insA	CCDS4797.1																																																																																				0.421	TAF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040259.1	NM_005643		7	135						7	135	---	---	---	---	T	34846381	-	T	34846380	7	5	159	1	0	1	1	0	0	0	0	0	15512	333	12	0	16	0	TAF11	6	34846380	Frame_Shift_Ins	INS	-	TCGA-G9-6353-01A-11D-1961-08	3144424	34846380	136268687	7	7692											
PPP3CC	5533	broad.mit.edu	37	chr8	22368644	22368644	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtatgatgcctgtatggagaCatttgactgtcttcctcttg	7	16	10	8	0	2	3	0	2	2	1	3	4	3	3	2	1	1	2	2	1	2	5			TCGA-G9-6353-01A-11D-1961-08	TCGA-G9-6353-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8b6ecad-0b33-446c-b7f5-6ad7a95ca260	8c34b0c6-72f2-4a77-a188-e4148283941d	g.chr8:22368644C>A	ENST00000240139.5	+	5	857	c.530C>A	c.(529-531)aCa>aAa	p.T177K	PPP3CC_ENST00000289963.8_Missense_Mutation_p.T177K|PPP3CC_ENST00000397775.3_Missense_Mutation_p.T177K|PPP3CC_ENST00000518852.1_Missense_Mutation_p.T177K	NM_005605.4	NP_005596.2	P48454	PP2BC_HUMAN	protein phosphatase 3, catalytic subunit, gamma isozyme	177					apoptotic process (GO:0006915)|intrinsic apoptotic signaling pathway (GO:0097193)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	metal ion binding (GO:0046872)|phosphoprotein phosphatase activity (GO:0004721)			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17		Prostate(55;0.104)		BRCA - Breast invasive adenocarcinoma(99;0.00756)|Colorectal(74;0.0238)|COAD - Colon adenocarcinoma(73;0.0835)		TGTATGGAGACATTTGACTGT	0.383																																						ENST00000240139.5																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17						c.(529-531)aCa>aAa		protein phosphatase 3, catalytic subunit, gamma isozyme							214	182	193					8																	22368644		2203	4300	6503	SO:0001583	missense	5533				activation of pro-apoptotic gene products|induction of apoptosis by intracellular signals	cytosol	calmodulin binding|metal ion binding|phosphoprotein phosphatase activity	g.chr8:22368644C>A		CCDS34859.1, CCDS59094.1, CCDS59093.1	8p21.3	2010-03-17	2010-03-05		ENSG00000120910	ENSG00000120910	3.1.3.16	"Serine/threonine phosphatases / Protein phosphatase, catalytic subunits"	9316	protein-coding gene	gene with protein product	"calcineurin A gamma", "protein phosphatase 2B, catalytic subunit, gamma isoform"	114107	"protein phosphatase 3 (formerly 2B), catalytic subunit, gamma isoform (calcineurin A gamma)", "protein phosphatase 3 (formerly 2B), catalytic subunit, gamma isoform"			1339277	Standard	NM_005605		Approved	CALNA3, PP2Bgamma	uc011kzi.2	P48454	OTTHUMG00000163802	ENST00000240139.5:c.530C>A	8.37:g.22368644C>A	ENSP00000240139:p.Thr177Lys					PPP3CC_ENST00000397775.3_Missense_Mutation_p.T177K|PPP3CC_ENST00000289963.8_Missense_Mutation_p.T177K|PPP3CC_ENST00000518852.1_Missense_Mutation_p.T177K	p.T177K	NM_005605.4	NP_005596.2	P48454	PP2BC_HUMAN		BRCA - Breast invasive adenocarcinoma(99;0.00756)|Colorectal(74;0.0238)|COAD - Colon adenocarcinoma(73;0.0835)	5	857	+		Prostate(55;0.104)	177					B4DRT5|Q9BSS6|Q9H4M5	Missense_Mutation	SNP	ENST00000240139.5	37	c.530C>A	CCDS34859.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	23.6|23.6	4.438428|4.438428	0.83885|0.83885	.|.	.|.	ENSG00000120910|ENSG00000120910	ENST00000522034;ENST00000521651|ENST00000518852;ENST00000240139;ENST00000289963;ENST00000397775;ENST00000523620	.|T;T;T;T;T	.|0.05580	.|3.42;3.42;3.42;3.42;3.42	6.03|6.03	6.03|6.03	0.97812|0.97812	.|Serine/threonine-specific protein phosphatase/bis(5-nucleosyl)-tetraphosphatase (2);Metallophosphoesterase domain (1);	.|0.047960	.|0.85682	.|D	.|0.000000	T|T	0.19644|0.19644	0.0472|0.0472	M|M	0.87900|0.87900	2.915|2.915	0.53688|0.53688	D|D	0.999972|0.999972	.|P;P;P;B	.|0.37612	.|0.602;0.547;0.602;0.415	.|B;B;B;B	.|0.41571	.|0.222;0.36;0.222;0.142	T|T	0.00458|0.00458	-1.1727|-1.1727	5|10	.|0.87932	.|D	.|0	-15.5783|-15.5783	19.3283|19.3283	0.94273|0.94273	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|177;177;177;177	.|B4DRT5;P48454-2;P48454;G3V111	.|.;.;PP2BC_HUMAN;.	N|K	27;54|177;177;177;177;3	.|ENSP00000429379:T177K;ENSP00000240139:T177K;ENSP00000289963:T177K;ENSP00000380878:T177K;ENSP00000430555:T3K	.|ENSP00000240139:T177K	H|T	+|+	1|2	0|0	PPP3CC|PPP3CC	22424589|22424589	1.000000|1.000000	0.71417|0.71417	0.951000|0.951000	0.38953|0.38953	0.987000|0.987000	0.75469|0.75469	7.818000|7.818000	0.86416|0.86416	2.861000|2.861000	0.98227|0.98227	0.655000|0.655000	0.94253|0.94253	CAT|ACA		0.383	PPP3CC-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000375652.1	NM_005605		5	122	1	0	0.000602214	0.014758	0.000789109	5	122					A	22368644	C	A	22368644	3	1	159	1	0	0	0	0	1	0	0	0	12399	478	17	5	548	5	PPP3CC	8	22368644	Missense_Mutation	SNP	C	TCGA-G9-6353-01A-11D-1961-08		22368644	123995378	8	7693											
RDH10	157506	broad.mit.edu	37	chr8	74235228	74235228	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtacccctttattgctcaaaGaaagcaagccacaaacaata	17	8	5	11	0	1	1	1	0	0	1	1	1	1	1	3	0	5	3	3	0	8	5			TCGA-G9-6353-01A-11D-1961-08	TCGA-G9-6353-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8b6ecad-0b33-446c-b7f5-6ad7a95ca260	8c34b0c6-72f2-4a77-a188-e4148283941d	g.chr8:74235228G>A	ENST00000240285.5	+	6	1661	c.983G>A	c.(982-984)aGa>aAa	p.R328K	RP11-434I12.2_ENST00000517475.1_RNA|RDH10_ENST00000519380.1_Missense_Mutation_p.R163K|RP11-434I12.2_ENST00000514599.1_RNA	NM_172037.4	NP_742034.1	Q8IZV5	RDH10_HUMAN	retinol dehydrogenase 10 (all-trans)	328					bud elongation involved in lung branching (GO:0060449)|ear development (GO:0043583)|embryonic camera-type eye development (GO:0031076)|embryonic forelimb morphogenesis (GO:0035115)|embryonic viscerocranium morphogenesis (GO:0048703)|gonad development (GO:0008406)|in utero embryonic development (GO:0001701)|metanephros development (GO:0001656)|neural crest cell development (GO:0014032)|nose development (GO:0043584)|phototransduction, visible light (GO:0007603)|primary lung bud formation (GO:0060431)|retinal metabolic process (GO:0042574)|retinoic acid biosynthetic process (GO:0002138)|retinoid metabolic process (GO:0001523)|retinol metabolic process (GO:0042572)|visual perception (GO:0007601)	cell body (GO:0044297)|cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	NADP-retinol dehydrogenase activity (GO:0052650)|retinol dehydrogenase activity (GO:0004745)			breast(1)|endometrium(1)|large_intestine(3)|lung(5)|skin(1)	11	Breast(64;0.0954)		Epithelial(68;0.0105)|all cancers(69;0.0465)|BRCA - Breast invasive adenocarcinoma(89;0.0608)			ATTGCTCAAAGAAAGCAAGCC	0.383																																						ENST00000240285.5																			0				breast(1)|endometrium(1)|large_intestine(3)|lung(5)|skin(1)	11						c.(982-984)aGa>aAa		retinol dehydrogenase 10 (all-trans)							65	59	61					8																	74235228		2203	4300	6503	SO:0001583	missense	157506				retinal metabolic process|retinol metabolic process|visual perception	endoplasmic reticulum membrane|integral to membrane|microsome	binding|NADP-retinol dehydrogenase activity|retinol dehydrogenase activity	g.chr8:74235228G>A	AF456765	CCDS6213.1	8q21.11	2011-09-20			ENSG00000121039	ENSG00000121039	1.1.1.-	"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3"	19975	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 16C, member 4"	607599				12407145, 19027726	Standard	NM_172037		Approved	SDR16C4	uc003xzi.3	Q8IZV5	OTTHUMG00000164492	ENST00000240285.5:c.983G>A	8.37:g.74235228G>A	ENSP00000240285:p.Arg328Lys					RDH10_ENST00000519380.1_Missense_Mutation_p.R163K|RP11-434I12.2_ENST00000514599.1_RNA|RP11-434I12.2_ENST00000517475.1_RNA	p.R328K	NM_172037.4	NP_742034.1	Q8IZV5	RDH10_HUMAN	Epithelial(68;0.0105)|all cancers(69;0.0465)|BRCA - Breast invasive adenocarcinoma(89;0.0608)		6	1661	+	Breast(64;0.0954)		328						Missense_Mutation	SNP	ENST00000240285.5	37	c.983G>A	CCDS6213.1	.	.	.	.	.	.	.	.	.	.	G	11.31	1.600327	0.28534	.	.	ENSG00000121039	ENST00000240285;ENST00000519380	D;T	0.83837	-1.77;0.03	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	T	0.69602	0.3129	N	0.16201	0.385	0.49389	D	0.999784	B	0.18166	0.026	B	0.12837	0.008	T	0.65541	-0.6143	10	0.02654	T	1	.	19.7069	0.96076	0.0:0.0:1.0:0.0	.	328	Q8IZV5	RDH10_HUMAN	K	328;163	ENSP00000240285:R328K;ENSP00000428132:R163K	ENSP00000240285:R328K	R	+	2	0	RDH10	74397782	1.000000	0.71417	0.995000	0.50966	0.987000	0.75469	7.743000	0.85020	2.894000	0.99253	0.591000	0.81541	AGA		0.383	RDH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378982.1			6	43	0	0	0	0.038147	0	6	43					A	74235228	G	A	74235228	3	1	159	1	0	0	0	0	1	0	0	0	13189	942	33	3	1005	3	RDH10	8	74235228	Missense_Mutation	SNP	G	TCGA-G9-6353-01A-11D-1961-08	51866584	74235228	72128794	9	7694											
NUDT2	318	broad.mit.edu	37	chr9	34343327	34343327	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	atccgcctctcccatgagcaCcaagcctaccgctggctggg	7	7	10	17	2	1	1	0	1	1	0	3	1	2	1	6	2	3	3	6	2	2	1			TCGA-G9-6353-01A-11D-1961-08	TCGA-G9-6353-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8b6ecad-0b33-446c-b7f5-6ad7a95ca260	8c34b0c6-72f2-4a77-a188-e4148283941d	g.chr9:34343327C>T	ENST00000379158.2	+	5	691	c.333C>T	c.(331-333)caC>caT	p.H111H	NUDT2_ENST00000346365.4_Silent_p.H111H|NUDT2_ENST00000379155.5_Silent_p.H111H	NM_001161.4	NP_001152.1	P50583	AP4A_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 2	111	Nudix hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00794}.				apoptotic process (GO:0006915)|nucleobase-containing compound metabolic process (GO:0006139)	mitochondrion (GO:0005739)	bis(5'-nucleosyl)-tetraphosphatase (asymmetrical) activity (GO:0004081)|bis(5'-nucleosyl)-tetraphosphatase (symmetrical) activity (GO:0008803)|GTP binding (GO:0005525)			lung(3)	3			LUSC - Lung squamous cell carcinoma(29;0.0107)	GBM - Glioblastoma multiforme(74;0.126)		CCCATGAGCACCAAGCCTACC	0.557																																					Melanoma(95;1683 1957 4276 39813)	ENST00000379158.2																			0				lung(3)	3						c.(331-333)caC>caT		nudix (nucleoside diphosphate linked moiety X)-type motif 2							56	55	55					9																	34343327		2203	4300	6503	SO:0001819	synonymous_variant	318				induction of apoptosis|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		bis(5'-nucleosyl)-tetraphosphatase (asymmetrical) activity|bis(5'-nucleosyl)-tetraphosphatase (symmetrical) activity|GTP binding	g.chr9:34343327C>T	U30313	CCDS6552.1	9p13	2008-07-21			ENSG00000164978	ENSG00000164978		"Nudix motif containing"	8049	protein-coding gene	gene with protein product	"Ap4A hydrolase 1", "Ap4Aase", "bis(5'-nucleosyl)-tetraphosphatase (asymmetrical)", "diadenosine tetraphosphatase", "diadenosine 5',5''-P1,P4-tetraphosphate pyrophosphohydrolase"	602852		APAH1		7487923, 9479504	Standard	NM_001161		Approved		uc022bga.1	P50583	OTTHUMG00000019817	ENST00000379158.2:c.333C>T	9.37:g.34343327C>T						NUDT2_ENST00000346365.4_Silent_p.H111H|NUDT2_ENST00000379155.5_Silent_p.H111H	p.H111H	NM_001161.4	NP_001152.1	P50583	AP4A_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0107)	GBM - Glioblastoma multiforme(74;0.126)	5	691	+			111			Nudix hydrolase.		D3DRM0|Q5T589	Silent	SNP	ENST00000379158.2	37	c.333C>T	CCDS6552.1																																																																																				0.557	NUDT2-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052160.2	NM_001161		4	94	0	0	0	0.009096	0	4	94					T	34343327	C	T	34343327	2	4	159	1	0	0	0	0	0	0	0	1	10737	506	18	3		3	NUDT2	9	34343327	Silent	SNP	C	TCGA-G9-6353-01A-11D-1961-08		34343327	106870104	10	7695											
KCTD19	146212	broad.mit.edu	37	chr16	67335718	67335718	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gttcatccggtaccaccttaCggcttcagtgagtgcaggga	8	10	12	11	2	2	1	2	1	0	0	3	2	3	2	3	3	3	4	3	3	2	4			TCGA-G9-6353-01A-11D-1961-08	TCGA-G9-6353-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8b6ecad-0b33-446c-b7f5-6ad7a95ca260	8c34b0c6-72f2-4a77-a188-e4148283941d	g.chr16:67335718C>T	ENST00000304372.5	-	5	806	c.751G>A	c.(751-753)Gta>Ata	p.V251I	KCTD19_ENST00000562860.1_5'UTR	NM_001100915.1	NP_001094385.1	Q17RG1	KCD19_HUMAN	potassium channel tetramerization domain containing 19	251					protein homooligomerization (GO:0051260)					endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)	23		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0311)|Epithelial(162;0.0906)		TACCACCTTACGGCTTCAGTG	0.473																																						ENST00000304372.5																			0				endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)	23						c.(751-753)Gta>Ata		potassium channel tetramerization domain containing 19							175	178	177					16																	67335718		1912	4123	6035	SO:0001583	missense	146212					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr16:67335718C>T	AK097481	CCDS42179.1	16q22.1	2013-06-20	2013-06-20			ENSG00000168676			24753	protein-coding gene	gene with protein product			"potassium channel tetramerisation domain containing 19"				Standard	NM_001100915		Approved	FLJ40162	uc002esu.2	Q17RG1		ENST00000304372.5:c.751G>A	16.37:g.67335718C>T	ENSP00000305702:p.Val251Ile					KCTD19_ENST00000562860.1_5'UTR	p.V251I	NM_001100915.1	NP_001094385.1	Q17RG1	KCD19_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0311)|Epithelial(162;0.0906)	5	806	-		Ovarian(137;0.192)	251					B4DZ49|Q8N804	Missense_Mutation	SNP	ENST00000304372.5	37	c.751G>A	CCDS42179.1	.	.	.	.	.	.	.	.	.	.	C	6.054	0.378332	0.11466	.	.	ENSG00000168676	ENST00000304372	T	0.59772	0.24	6.17	-1.53	0.08611	BTB/POZ fold (2);	0.802103	0.11579	N	0.549922	T	0.34658	0.0905	N	0.14661	0.345	0.09310	N	1	B	0.11235	0.004	B	0.06405	0.002	T	0.14924	-1.0455	10	0.32370	T	0.25	-2.0805	8.1702	0.31249	0.0:0.4407:0.1031:0.4562	.	251	Q17RG1	KCD19_HUMAN	I	251	ENSP00000305702:V251I	ENSP00000305702:V251I	V	-	1	0	KCTD19	65893219	0.000000	0.05858	0.000000	0.03702	0.425000	0.31504	-1.122000	0.03267	-0.480000	0.06803	-0.797000	0.03246	GTA		0.473	KCTD19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422061.1	XM_085367		15	253	0	0	0	0.024245	0	15	253					T	67335718	C	T	67335718	3	4	159	1	0	0	0	0	1	0	0	0	8106	536	19	1	2077	1	KCTD19	16	67335718	Missense_Mutation	SNP	C	TCGA-G9-6353-01A-11D-1961-08		67335718	23019035	11	7696											
FBXO46	23403	broad.mit.edu	37	chr19	46216533	46216533	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	catcaccagcagctgctgctGagaggagcggagccggctgg	8	5	16	12	2	1	1	1	1	0	1	1	4	1	3	2	4	6	5	2	4	0	0			TCGA-G9-6353-01A-11D-1961-08	TCGA-G9-6353-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8b6ecad-0b33-446c-b7f5-6ad7a95ca260	8c34b0c6-72f2-4a77-a188-e4148283941d	g.chr19:46216533G>A	ENST00000317683.3	-	2	354	c.221C>T	c.(220-222)tCa>tTa	p.S74L		NM_001080469.1	NP_001073938.1	Q6PJ61	FBX46_HUMAN	F-box protein 46	74										breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(2)|skin(1)	15		Ovarian(192;0.179)|all_neural(266;0.224)		OV - Ovarian serous cystadenocarcinoma(262;0.00568)|GBM - Glioblastoma multiforme(486;0.0844)|Epithelial(262;0.201)		AGCTGCTGCTGAGAGGAGCGG	0.642																																						ENST00000317683.3																			0				breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(2)|skin(1)	15						c.(220-222)tCa>tTa		F-box protein 46							35	40	39					19																	46216533		2070	4200	6270	SO:0001583	missense	23403						protein binding	g.chr19:46216533G>A	BC021978	CCDS46116.1	19q13.3	2008-02-05	2004-06-15	2004-06-16		ENSG00000177051		"F-boxes /  "other""	25069	protein-coding gene	gene with protein product		609117	"F-box only protein 34-like"	FBXO34L		9585442	Standard	NM_001080469		Approved	20D7-FC4, Fbx46	uc002pcz.3	Q6PJ61		ENST00000317683.3:c.221C>T	19.37:g.46216533G>A	ENSP00000410007:p.Ser74Leu						p.S74L	NM_001080469.1	NP_001073938.1	Q6PJ61	FBX46_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00568)|GBM - Glioblastoma multiforme(486;0.0844)|Epithelial(262;0.201)	2	354	-		Ovarian(192;0.179)|all_neural(266;0.224)	74						Missense_Mutation	SNP	ENST00000317683.3	37	c.221C>T	CCDS46116.1	.	.	.	.	.	.	.	.	.	.	G	17.96	3.516138	0.64634	.	.	ENSG00000177051	ENST00000317683	.	.	.	3.95	3.95	0.45737	.	.	.	.	.	T	0.44159	0.1280	N	0.08118	0	0.39131	D	0.961852	D	0.54207	0.965	P	0.55055	0.767	T	0.48399	-0.9039	8	0.41790	T	0.15	-13.2689	11.7008	0.51569	0.0:0.0:1.0:0.0	.	74	Q6PJ61	FBX46_HUMAN	L	74	.	ENSP00000410007:S74L	S	-	2	0	FBXO46	50908373	0.968000	0.33430	0.978000	0.43139	0.545000	0.35147	2.108000	0.41854	2.206000	0.71126	0.563000	0.77884	TCA		0.642	FBXO46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459661.1	XM_371179		5	106	0	0	0	0.021553	0	5	106					A	46216533	G	A	46216533	3	1	159	1	0	0	0	0	1	0	0	0	5755	1294	45	3	1594	3	FBXO46	19	46216533	Missense_Mutation	SNP	G	TCGA-G9-6353-01A-11D-1961-08		46216533	12912450	12	7697											
IL2RB	3560	broad.mit.edu	37	chr22	37524348	37524348	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gggtggctgaaaatccaccaGgtctgggactcctggggtgg	7	8	17	9	0	1	1	0	1	1	0	3	2	3	2	3	7	0	1	3	7	2	0			TCGA-G9-6353-01A-11D-1961-08	TCGA-G9-6353-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8b6ecad-0b33-446c-b7f5-6ad7a95ca260	8c34b0c6-72f2-4a77-a188-e4148283941d	g.chr22:37524348G>A	ENST00000216223.5	-	10	1642	c.1444C>T	c.(1444-1446)Ctg>Ttg	p.L482L		NM_000878.3	NP_000869.1	P14784	IL2RB_HUMAN	interleukin 2 receptor, beta	482					cytokine-mediated signaling pathway (GO:0019221)|interleukin-2-mediated signaling pathway (GO:0038110)|negative regulation of apoptotic process (GO:0043066)|protein complex assembly (GO:0006461)|signal transduction (GO:0007165)|viral process (GO:0016032)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	interleukin-2 binding (GO:0019976)|interleukin-2 receptor activity (GO:0004911)			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(5)	23					Aldesleukin(DB00041)|Basiliximab(DB00074)|Daclizumab(DB00111)|Denileukin diftitox(DB00004)	AAATCCACCAGGTCTGGGACT	0.662																																						ENST00000216223.5																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(5)	23						c.(1444-1446)Ctg>Ttg		interleukin 2 receptor, beta	Aldesleukin(DB00041)|Basiliximab(DB00074)|Daclizumab(DB00111)|Denileukin diftitox(DB00004)						19	24	22					22																	37524348		2181	4251	6432	SO:0001819	synonymous_variant	0				interspecies interaction between organisms|positive regulation of survival gene product expression|protein complex assembly	external side of plasma membrane|integral to plasma membrane	interleukin-2 receptor activity	g.chr22:37524348G>A	M26062	CCDS13942.1	22q13	2011-02-15			ENSG00000100385	ENSG00000100385		"Interleukins and interleukin receptors", "CD molecules"	6009	protein-coding gene	gene with protein product		146710	"interleukin 15 receptor, beta"	IL15RB			Standard	NM_000878		Approved	CD122	uc003aqv.1	P14784	OTTHUMG00000150534	ENST00000216223.5:c.1444C>T	22.37:g.37524348G>A							p.L482L	NM_000878.3	NP_000869.1	P14784	IL2RB_HUMAN			10	1642	-			482					B2R765	Silent	SNP	ENST00000216223.5	37	c.1444C>T	CCDS13942.1																																																																																				0.662	IL2RB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318792.1			5	73	0	0	0	0.02938	0	5	73					A	37524348	G	A	37524348	2	1	159	1	0	0	0	0	0	0	0	1	7687	991	35	3		3	IL2RB	22	37524348	Silent	SNP	G	TCGA-G9-6353-01A-11D-1961-08		37524348	13780218	13	7698											
L3MBTL2	83746	broad.mit.edu	37	chr22	41616870	41616870	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caagatcctagtgcccccacGgagtgagttgatgagaacat	12	8	11	10	1	0	4	0	3	0	2	1	6	1	5	3	1	2	1	3	1	3	2			TCGA-G9-6353-01A-11D-1961-08	TCGA-G9-6353-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8b6ecad-0b33-446c-b7f5-6ad7a95ca260	8c34b0c6-72f2-4a77-a188-e4148283941d	g.chr22:41616870G>T	ENST00000216237.5	+	7	1009	c.851G>T	c.(850-852)cGg>cTg	p.R284L		NM_031488.4	NP_113676.2	Q969R5	LMBL2_HUMAN	l(3)mbt-like 2 (Drosophila)	284					chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						GTGCCCCCACGGAGTGAGTTG	0.537																																						ENST00000216237.5																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						c.(850-852)cGg>cTg		l(3)mbt-like 2 (Drosophila)							124	93	103					22																	41616870		2203	4300	6503	SO:0001583	missense	83746				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	methylated histone residue binding|transcription corepressor activity|zinc ion binding	g.chr22:41616870G>T	AJ305226	CCDS14011.1	22q13.31-q13.33	2008-06-11			ENSG00000100395	ENSG00000100395			18594	protein-coding gene	gene with protein product		611865				11682070	Standard	NM_031488		Approved	H-l(3)mbt-l, DKFZP761I141, dJ756G23.3	uc003azo.3	Q969R5	OTTHUMG00000150942	ENST00000216237.5:c.851G>T	22.37:g.41616870G>T	ENSP00000216237:p.Arg284Leu						p.R284L	NM_031488.4	NP_113676.2	Q969R5	LMBL2_HUMAN			7	1009	+			284					Q8TEN1|Q96SC4|Q9BQI2|Q9UGS4	Missense_Mutation	SNP	ENST00000216237.5	37	c.851G>T	CCDS14011.1	.	.	.	.	.	.	.	.	.	.	G	17.16	3.319292	0.60524	.	.	ENSG00000100395	ENST00000216237	T	0.29397	1.57	5.23	4.0	0.46444	.	0.208186	0.50627	D	0.000102	T	0.09730	0.0239	N	0.02539	-0.55	0.54753	D	0.999982	B;B	0.19445	0.036;0.004	B;B	0.12156	0.007;0.007	T	0.23476	-1.0187	10	0.19590	T	0.45	.	3.8652	0.09013	0.341:0.0:0.659:0.0	.	284;284	Q969R5-3;Q969R5	.;LMBL2_HUMAN	L	284	ENSP00000216237:R284L	ENSP00000216237:R284L	R	+	2	0	L3MBTL2	39946816	1.000000	0.71417	0.982000	0.44146	0.675000	0.39556	7.692000	0.84203	2.614000	0.88457	0.462000	0.41574	CGG		0.537	L3MBTL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320613.1	NM_031488		4	67	1	0	0.00024832	0.009096	0.000337006	4	67					T	41616870	G	T	41616870	3	4	159	1	0	0	0	0	1	0	0	0	8592	1116	39	5	877	5	L3MBTL2	22	41616870	Missense_Mutation	SNP	G	TCGA-G9-6353-01A-11D-1961-08	4092522	41616870	9687696	14	7699											
PHF8	23133	broad.mit.edu	37	chrX	54011405	54011407	+	In_Frame_Del	DEL	CTC	CTC	-																															tgttcatccagactggcgttCtcctcctcctcctcgctctc																										TCGA-G9-6353-01A-11D-1961-08	TCGA-G9-6353-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8b6ecad-0b33-446c-b7f5-6ad7a95ca260	8c34b0c6-72f2-4a77-a188-e4148283941d	g.chrX:54011405_54011407delCTC	ENST00000357988.5	-	18	2849_2851	c.2491_2493delGAG	c.(2491-2493)gagdel	p.E831del	PHF8_ENST00000338154.6_In_Frame_Del_p.E795del|PHF8_ENST00000322659.8_In_Frame_Del_p.E778del|PHF8_ENST00000338946.6_In_Frame_Del_p.E694del	NM_001184896.1	NP_001171825.1	Q9UPP1	PHF8_HUMAN	PHD finger protein 8	831					brain development (GO:0007420)|G1/S transition of mitotic cell cycle (GO:0000082)|histone H3-K27 demethylation (GO:0071557)|histone H3-K36 demethylation (GO:0070544)|histone H3-K9 demethylation (GO:0033169)|histone H4-K20 demethylation (GO:0035574)|mitotic cell cycle (GO:0000278)|negative regulation of chromatin silencing at rDNA (GO:0061188)|positive regulation of transcription from RNA polymerase I promoter (GO:0045943)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|histone demethylase activity (GO:0032452)|histone demethylase activity (H3-K27 specific) (GO:0071558)|histone demethylase activity (H3-K36 specific) (GO:0051864)|histone demethylase activity (H3-K9 specific) (GO:0032454)|histone demethylase activity (H4-K20 specific) (GO:0035575)|iron ion binding (GO:0005506)|methylated histone binding (GO:0035064)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|zinc ion binding (GO:0008270)			endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	40						GACTGGCGTTCTCCTCCTCCTCC	0.591																																						ENST00000338154.6																			0				endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	40						c.(2383-2385)del		PHD finger protein 8																																				SO:0001651	inframe_deletion	23133				brain development|G1/S transition of mitotic cell cycle|negative regulation of chromatin silencing at rDNA|positive regulation of transcription from RNA polymerase I promoter|transcription, DNA-dependent	nucleolus	chromatin binding|histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding	g.chrX:54011405_54011407delCTC	AB029034	CCDS14355.1, CCDS55418.1, CCDS55419.1, CCDS55420.1	Xp11.22	2013-01-28			ENSG00000172943	ENSG00000172943		"Chromatin-modifying enzymes / K-demethylases", "Zinc fingers, PHD-type"	20672	protein-coding gene	gene with protein product	"jumonji C domain-containing histone demethylase 1F"	300560				10470851, 20023638, 20644565	Standard	NM_015107		Approved	ZNF422, KIAA1111, JHDM1F	uc004dsu.3	Q9UPP1	OTTHUMG00000021622	ENST00000357988.5:c.2491_2493delGAG	X.37:g.54011414_54011416delCTC	ENSP00000350676:p.Glu831del					PHF8_ENST00000322659.8_In_Frame_Del_p.E778del|PHF8_ENST00000357988.5_In_Frame_Del_p.E831del|PHF8_ENST00000338946.6_In_Frame_Del_p.E694del	p.E795del	NM_015107.2	NP_055922.1	Q9UPP1	PHF8_HUMAN			18	2887_2889	-			831			Ser-rich.		B3KMV4|B7Z911|Q5H9U5|Q5JPR9|Q5JPS0|Q5JPS2|Q5JPS3|Q5VUJ4|Q7Z6D4|Q9HAH2	In_Frame_Del	DEL	ENST00000357988.5	37	c.2383_2385delGAG	CCDS55420.1																																																																																				0.591	PHF8-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000056784.2	NM_015107		7	169						7	169	---	---	---	---	-	54011407	CTC	-	54011405	7	5	159	1	0	1	0	1	0	0	0	0	11840	912	32	0	835	0	PHF8	23	54011405	In_Frame_Del	DEL	CTC	TCGA-G9-6353-01A-11D-1961-08		54011405	101259155	15	7700											
SEPN1	57190	broad.mit.edu	37	chr1	26142184	26142184	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgaaggagggactccggcGtggcctgcccctcctccagc	5	6	13	17	2	0	1	0	1	0	0	3	3	3	3	7	4	2	0	7	4	1	0			TCGA-G9-6354-01A-11D-A30X-08	TCGA-G9-6354-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea8eed7-1e59-4888-b285-e5aa3d73cbd9	eba48f21-c778-4331-97c5-e28b88cc0627	g.chr1:26142184G>A	ENST00000374315.1	+	12	1684	c.1646G>A	c.(1645-1647)cGt>cAt	p.R549H	RP1-317E23.3_ENST00000442055.1_RNA|RP1-317E23.6_ENST00000527604.1_Intron|SEPN1_ENST00000361547.2_Missense_Mutation_p.R583H|SEPN1_ENST00000354177.4_Missense_Mutation_p.R549H|SEPN1_ENST00000494537.1_3'UTR	NM_206926.1	NP_996809.1	Q9NZV5	SELN_HUMAN	selenoprotein N, 1	583						endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)	calcium ion binding (GO:0005509)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	19		Colorectal(325;3.46e-05)|Lung NSC(340;0.00038)|all_lung(284;0.00051)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0505)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0421)|OV - Ovarian serous cystadenocarcinoma(117;1.26e-25)|Colorectal(126;3.01e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|BRCA - Breast invasive adenocarcinoma(304;0.00099)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0143)|READ - Rectum adenocarcinoma(331;0.0649)		GGACTCCGGCGTGGCCTGCCC	0.607																																						ENST00000361547.2																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	19						c.(1747-1749)cGt>cAt		selenoprotein N, 1							103	107	106					1																	26142184		2037	4186	6223	SO:0001583	missense	57190					endoplasmic reticulum membrane|extracellular region	protein binding	g.chr1:26142184G>A	AF166125	CCDS41282.1, CCDS41283.1	1p36.13	2014-09-17	2004-02-13		ENSG00000162430	ENSG00000162430		"EF-hand domain containing"	15999	protein-coding gene	gene with protein product		606210	"rigid spine muscular dystrophy 1"	RSMD1, MDRS1		10608886	Standard	NM_020451		Approved	selN, RSS	uc021ojl.1	Q9NZV5	OTTHUMG00000007375	ENST00000374315.1:c.1646G>A	1.37:g.26142184G>A	ENSP00000363434:p.Arg549His					SEPN1_ENST00000354177.4_Missense_Mutation_p.R549H|RP1-317E23.6_ENST00000527604.1_Intron|SEPN1_ENST00000494537.1_3'UTR|SEPN1_ENST00000374315.1_Missense_Mutation_p.R549H	p.R583H	NM_020451.2	NP_065184.2	Q9NZV5	SELN_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0421)|OV - Ovarian serous cystadenocarcinoma(117;1.26e-25)|Colorectal(126;3.01e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|BRCA - Breast invasive adenocarcinoma(304;0.00099)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0143)|READ - Rectum adenocarcinoma(331;0.0649)	13	1803	+		Colorectal(325;3.46e-05)|Lung NSC(340;0.00038)|all_lung(284;0.00051)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0505)	583					A6NJG8|A8MQ64|Q6PI70|Q969F6|Q9NUI6	Missense_Mutation	SNP	ENST00000374315.1	37	c.1748G>A	CCDS41283.1	.	.	.	.	.	.	.	.	.	.	G	18.55	3.648043	0.67358	.	.	ENSG00000162430	ENST00000361547;ENST00000354177;ENST00000374315	D;D;D	0.90133	-2.62;-2.59;-2.59	4.76	2.76	0.32466	.	0.248360	0.39146	N	0.001450	D	0.87059	0.6083	L	0.51422	1.61	0.33718	D	0.616678	D;D	0.57257	0.979;0.979	P;P	0.47015	0.534;0.451	D	0.87191	0.2234	10	0.72032	D	0.01	-1.255	4.8113	0.13345	0.1568:0.0:0.5332:0.31	.	549;583	Q9NZV5-2;Q9NZV5	.;SELN_HUMAN	H	583;549;549	ENSP00000355141:R583H;ENSP00000346109:R549H;ENSP00000363434:R549H	ENSP00000346109:R549H	R	+	2	0	SEPN1	26014771	0.922000	0.31269	0.240000	0.24138	0.993000	0.82548	1.642000	0.37207	0.466000	0.27193	0.561000	0.74099	CGT		0.607	SEPN1-002	KNOWN	basic|appris_candidate_longest|CCDS|seleno	protein_coding	protein_coding	OTTHUMT00000019315.2	NM_020451		4	133	0	0	0	1	0	4	133					A	26142184	G	A	26142184	3	1	160	1	0	0	0	0	1	0	0	0	14056	1145	40	1	1798	1	SEPN1	1	26142184	Missense_Mutation	SNP	G	TCGA-G9-6354-01A-11D-A30X-08		26142184	223108437	1	7701											
CD48	962	broad.mit.edu	37	chr1	160654876	160654876	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cattctacaatcttctggtcGaaagtataaaaccaggttag	14	12	7	8	1	3	0	0	0	3	0	4	1	3	0	1	2	2	2	1	2	7	6	rs200699471		TCGA-G9-6354-01A-11D-A30X-08	TCGA-G9-6354-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea8eed7-1e59-4888-b285-e5aa3d73cbd9	eba48f21-c778-4331-97c5-e28b88cc0627	g.chr1:160654876G>A	ENST00000368046.3	-	2	273	c.186C>T	c.(184-186)ttC>ttT	p.F62F	CD48_ENST00000368045.3_Silent_p.F62F|RP11-404F10.2_ENST00000588034.1_RNA|RP11-404F10.2_ENST00000443928.2_RNA|RP11-404F10.2_ENST00000598917.2_RNA	NM_001778.3	NP_001769.2	P09326	CD48_HUMAN	CD48 molecule	62	Ig-like C2-type 1.				blood coagulation (GO:0007596)|defense response (GO:0006952)|leukocyte migration (GO:0050900)|mast cell activation (GO:0045576)|signal transduction (GO:0007165)|T cell activation (GO:0042110)	anchored component of plasma membrane (GO:0046658)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	antigen binding (GO:0003823)|receptor activity (GO:0004872)			breast(2)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|stomach(1)	10	all_cancers(52;2.18e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)			TCTTCTGGTCGAAAGTATAAA	0.443													G|||	1	0.000199681	8e-04	0	5008	,	,		21571	0		0	False		,,,				2504	0					ENST00000368045.3																			0				breast(2)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|stomach(1)	10						c.(184-186)ttC>ttT		CD48 molecule		G		0,4406		0,0,2203	87	93	91		186	-3.1	0	1		91	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	CD48	NM_001778.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		62/244	160654876	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	962				blood coagulation|defense response|leukocyte migration	integral to plasma membrane|membrane raft	protein binding	g.chr1:160654876G>A	BC016182	CCDS1208.1, CCDS72955.1	1q21.3-q22	2013-01-29	2006-03-31		ENSG00000117091	ENSG00000117091		"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	1683	protein-coding gene	gene with protein product		109530	"CD48 antigen (B-cell membrane protein)", "CD48 molecule "	BCM1		2828034	Standard	NM_001256030		Approved	BLAST, mCD48, hCD48, SLAMF2	uc001fwo.2	P09326	OTTHUMG00000024009	ENST00000368046.3:c.186C>T	1.37:g.160654876G>A						CD48_ENST00000368046.3_Silent_p.F62F	p.F62F			P09326	CD48_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.0175)		2	225	-	all_cancers(52;2.18e-17)|all_hematologic(112;0.093)		62			Ig-like C2-type 1.		Q5U055|Q8MGR0	Silent	SNP	ENST00000368046.3	37	c.186C>T	CCDS1208.1																																																																																				0.443	CD48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060471.1	NM_001778		7	63	0	0	0	1	0	7	63					A	160654876	G	A	160654876	2	1	160	1	0	0	0	0	0	0	0	1	3020	1049	37	2		2	CD48	1	160654876	Silent	SNP	G	TCGA-G9-6354-01A-11D-A30X-08	134512692	160654876	88595745	2	7702											
FAM71A	149647	broad.mit.edu	37	chr1	212798295	212798295	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gcatgttcaacaccaccatgGggaaactgcagcgacaactg	13	6	10	12	1	1	0	1	0	0	0	1	2	1	1	2	2	5	3	2	2	3	1			TCGA-G9-6354-01A-11D-A30X-08	TCGA-G9-6354-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea8eed7-1e59-4888-b285-e5aa3d73cbd9	eba48f21-c778-4331-97c5-e28b88cc0627	g.chr1:212798295G>T	ENST00000294829.3	+	1	507	c.76G>T	c.(76-78)Ggg>Tgg	p.G26W	RP11-338C15.5_ENST00000427949.1_RNA	NM_153606.3	NP_705834.2	Q8IYT1	FA71A_HUMAN	family with sequence similarity 71, member A	26						nucleus (GO:0005634)				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(7)|liver(1)|lung(12)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				OV - Ovarian serous cystadenocarcinoma(81;0.00631)|all cancers(67;0.00981)|GBM - Glioblastoma multiforme(131;0.0715)|Epithelial(68;0.094)		CACCACCATGGGGAAACTGCA	0.483																																						ENST00000294829.3																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(7)|liver(1)|lung(12)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(76-78)Ggg>Tgg		family with sequence similarity 71, member A							116	105	108					1																	212798295		2203	4300	6503	SO:0001583	missense	149647							g.chr1:212798295G>T		CCDS1507.1	1q32.3	2008-02-05			ENSG00000162771	ENSG00000162771			26541	protein-coding gene	gene with protein product						12477932	Standard	NM_153606		Approved	FLJ32796	uc010pth.1	Q8IYT1	OTTHUMG00000041084	ENST00000294829.3:c.76G>T	1.37:g.212798295G>T	ENSP00000294829:p.Gly26Trp					RP11-338C15.5_ENST00000427949.1_RNA	p.G26W	NM_153606.3	NP_705834.2	Q8IYT1	FA71A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.00631)|all cancers(67;0.00981)|GBM - Glioblastoma multiforme(131;0.0715)|Epithelial(68;0.094)	1	507	+			26					Q5VTZ1	Missense_Mutation	SNP	ENST00000294829.3	37	c.76G>T	CCDS1507.1	.	.	.	.	.	.	.	.	.	.	G	16.81	3.225952	0.58668	.	.	ENSG00000162771	ENST00000294829	T	0.22743	1.94	4.57	4.57	0.56435	.	0.000000	0.64402	D	0.000005	T	0.53417	0.1795	M	0.90977	3.165	0.42382	D	0.992495	D	0.89917	1.0	D	0.97110	1.0	T	0.63906	-0.6531	10	0.87932	D	0	-27.067	13.0839	0.59129	0.0:0.0:1.0:0.0	.	26	Q8IYT1	FA71A_HUMAN	W	26	ENSP00000294829:G26W	ENSP00000294829:G26W	G	+	1	0	FAM71A	210864918	1.000000	0.71417	0.996000	0.52242	0.526000	0.34562	4.310000	0.59141	2.543000	0.85770	0.585000	0.79938	GGG		0.483	FAM71A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098529.1	NM_153606		6	36	1	0	8.12818e-05	1	8.30488e-05	6	36					T	212798295	G	T	212798295	3	4	160	1	0	0	0	0	1	0	0	0	5607	1232	43	5	78	5	FAM71A	1	212798295	Missense_Mutation	SNP	G	TCGA-G9-6354-01A-11D-A30X-08	52143419	212798295	36452326	3	7703											
THSD7B	80731	broad.mit.edu	37	chr2	138033555	138033555	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtctgtctggcagggaataaCgggcagcagtgaagcctgtg	9	8	16	8	1	2	1	0	1	2	0	2	2	2	2	1	3	3	3	1	3	3	1	rs568467115		TCGA-G9-6354-01A-11D-A30X-08	TCGA-G9-6354-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea8eed7-1e59-4888-b285-e5aa3d73cbd9	eba48f21-c778-4331-97c5-e28b88cc0627	g.chr2:138033555C>T	ENST00000409968.1	+	12	2637	c.2459C>T	c.(2458-2460)aCg>aTg	p.T820M	THSD7B_ENST00000543459.1_Intron|THSD7B_ENST00000272643.3_Missense_Mutation_p.T820M|THSD7B_ENST00000413152.2_Missense_Mutation_p.T789M			Q9C0I4	THS7B_HUMAN	thrombospondin, type I, domain containing 7B	820	TSP type-1 10. {ECO:0000255|PROSITE- ProRule:PRU00210}.					integral component of membrane (GO:0016021)				NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		CAGGGAATAACGGGCAGCAGT	0.403													C|||	1	0.000199681	0	0	5008	,	,		16373	0		0	False		,,,				2504	0.001					ENST00000409968.1																			0				NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134						c.(2458-2460)aCg>aTg		thrombospondin, type I, domain containing 7B							91	99	96					2																	138033555		1888	4109	5997	SO:0001583	missense	80731							g.chr2:138033555C>T			2q22.1	2006-11-24			ENSG00000144229	ENSG00000144229			29348	protein-coding gene	gene with protein product						11214970	Standard	NM_001080427		Approved	KIAA1679	uc002tva.1	Q9C0I4	OTTHUMG00000153590	ENST00000409968.1:c.2459C>T	2.37:g.138033555C>T	ENSP00000387145:p.Thr820Met					THSD7B_ENST00000413152.2_Missense_Mutation_p.T789M|THSD7B_ENST00000543459.1_Intron|THSD7B_ENST00000272643.3_Missense_Mutation_p.T820M	p.T820M						BRCA - Breast invasive adenocarcinoma(221;0.19)	12	2637	+									Missense_Mutation	SNP	ENST00000409968.1	37	c.2459C>T		.	.	.	.	.	.	.	.	.	.	C	3.180	-0.168073	0.06461	.	.	ENSG00000144229	ENST00000409968;ENST00000272643;ENST00000413152	T;T;T	0.24350	2.4;2.25;1.86	5.9	-2.22	0.06952	.	0.555807	0.22160	N	0.063786	T	0.09512	0.0234	N	0.02315	-0.6	0.09310	N	1	B;B	0.10296	0.003;0.003	B;B	0.09377	0.004;0.004	T	0.25363	-1.0134	10	0.41790	T	0.15	.	12.7252	0.57166	0.0:0.5229:0.0:0.4771	.	820;789	Q9C0I4;C9JKN6	THS7B_HUMAN;.	M	820;820;789	ENSP00000387145:T820M;ENSP00000272643:T820M;ENSP00000413841:T789M	ENSP00000272643:T820M	T	+	2	0	THSD7B	137750025	0.042000	0.20092	0.747000	0.31113	0.227000	0.25037	0.288000	0.18939	-0.319000	0.08652	-1.320000	0.01293	ACG		0.403	THSD7B-001	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000331769.2	XM_046570.9		10	31	0	0	0	1	0	10	31					T	138033555	C	T	138033555	3	4	160	1	0	0	0	0	1	0	0	0	15877	536	19	1	2408	1	THSD7B	2	138033555	Missense_Mutation	SNP	C	TCGA-G9-6354-01A-11D-A30X-08		138033555	105165818	4	7704											
RARB	5915	broad.mit.edu	37	chr3	25502755	25502755	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccacttcctccccctcgaGtgtacaaaccctgcttcgtc	6	11	5	19	2	0	0	0	0	0	0	6	1	3	0	5	0	3	2	5	0	2	3			TCGA-G9-6354-01A-11D-A30X-08	TCGA-G9-6354-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea8eed7-1e59-4888-b285-e5aa3d73cbd9	eba48f21-c778-4331-97c5-e28b88cc0627	g.chr3:25502755G>A	ENST00000404969.1	+	2	250	c.250G>A	c.(250-252)Gtg>Atg	p.V84M	RARB_ENST00000330688.4_Missense_Mutation_p.V77M|RARB_ENST00000437042.2_5'UTR|RARB_ENST00000458646.1_5'UTR|RARB_ENST00000462272.1_3'UTR			P10826	RARB_HUMAN	retinoic acid receptor, beta	84	Modulating.				embryonic digestive tract development (GO:0048566)|embryonic eye morphogenesis (GO:0048048)|embryonic hindlimb morphogenesis (GO:0035116)|gene expression (GO:0010467)|glandular epithelial cell development (GO:0002068)|growth plate cartilage development (GO:0003417)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cartilage development (GO:0061037)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|outflow tract septum morphogenesis (GO:0003148)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell proliferation (GO:0008284)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of myelination (GO:0031641)|retinal pigment epithelium development (GO:0003406)|signal transduction (GO:0007165)|striatum development (GO:0021756)|transcription initiation from RNA polymerase II promoter (GO:0006367)|ureteric bud development (GO:0001657)|ventricular cardiac muscle cell differentiation (GO:0055012)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|drug binding (GO:0008144)|retinoic acid receptor activity (GO:0003708)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			breast(3)|kidney(1)|large_intestine(10)|lung(11)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	28					Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Tamibarotene(DB04942)|Tazarotene(DB00799)	TCCCCCTCGAGTGTACAAACC	0.527																																						ENST00000330688.4																			0				breast(3)|kidney(1)|large_intestine(10)|lung(11)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	28						c.(229-231)Gtg>Atg		retinoic acid receptor, beta	Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tamibarotene(DB04942)|Tazarotene(DB00799)						106	107	107					3																	25502755		2203	4300	6503	SO:0001583	missense	5915				embryonic digestive tract development|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	protein binding|retinoic acid receptor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	g.chr3:25502755G>A	Y00291	CCDS2642.1, CCDS46775.1	3p24	2013-01-16			ENSG00000077092	ENSG00000077092		"Nuclear hormone receptors"	9865	protein-coding gene	gene with protein product		180220					Standard	NM_016152		Approved	HAP, NR1B2, RRB2	uc003cdh.3	P10826	OTTHUMG00000130480	ENST00000404969.1:c.250G>A	3.37:g.25502755G>A	ENSP00000385865:p.Val84Met					RARB_ENST00000404969.1_Missense_Mutation_p.V84M|RARB_ENST00000458646.1_5'UTR|RARB_ENST00000437042.2_5'UTR|RARB_ENST00000462272.1_3'UTR	p.V77M	NM_000965.3	NP_000956.2	P10826	RARB_HUMAN			2	650	+			84			Modulating.		P12891|Q00989|Q15298|Q9UN48	Missense_Mutation	SNP	ENST00000404969.1	37	c.229G>A		.	.	.	.	.	.	.	.	.	.	G	23.0	4.361401	0.82353	.	.	ENSG00000077092	ENST00000383772;ENST00000404969;ENST00000538226;ENST00000330688	D;D;D	0.92647	-2.88;-3.08;-3.04	5.71	5.71	0.89125	.	0.230759	0.37261	N	0.002167	D	0.92792	0.7708	L	0.51422	1.61	0.36931	D	0.891906	P;P	0.48694	0.852;0.914	P;P	0.53861	0.736;0.71	D	0.94546	0.7749	10	0.87932	D	0	.	13.1514	0.59492	0.0728:0.0:0.9272:0.0	.	84;77	P10826;F1D8S6	RARB_HUMAN;.	M	84;84;84;77	ENSP00000373282:V84M;ENSP00000385865:V84M;ENSP00000332296:V77M	ENSP00000332296:V77M	V	+	1	0	RARB	25477759	1.000000	0.71417	0.992000	0.48379	0.976000	0.68499	5.784000	0.68990	2.723000	0.93209	0.644000	0.83932	GTG		0.527	RARB-201	KNOWN	basic	protein_coding	protein_coding		NM_000965, NM_016152		6	61	0	0	0	1	0	6	61					A	25502755	G	A	25502755	3	1	160	1	0	0	0	0	1	0	0	0	13053	1029	36	3	235	3	RARB	3	25502755	Missense_Mutation	SNP	G	TCGA-G9-6354-01A-11D-A30X-08		25502755	172519675	5	7705											
SCN5A	6331	broad.mit.edu	37	chr3	38592387	38592387	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctggttgggcttggcgatacGgagtggctcagacagggcat	7	9	17	8	2	1	1	1	0	0	1	1	3	1	2	0	6	1	4	0	6	1	3	rs199473635		TCGA-G9-6354-01A-11D-A30X-08	TCGA-G9-6354-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea8eed7-1e59-4888-b285-e5aa3d73cbd9	eba48f21-c778-4331-97c5-e28b88cc0627	g.chr3:38592387G>A	ENST00000333535.4	-	28	5625	c.5476C>T	c.(5476-5478)Cgt>Tgt	p.R1826C	SCN5A_ENST00000450102.2_Missense_Mutation_p.R1772C|SCN5A_ENST00000449557.2_Missense_Mutation_p.R1772C|SCN5A_ENST00000464652.1_5'Flank|SCN5A_ENST00000451551.2_Missense_Mutation_p.R1772C|SCN5A_ENST00000423572.2_Missense_Mutation_p.R1825C|SCN5A_ENST00000414099.2_Missense_Mutation_p.R1808C|SCN5A_ENST00000455624.2_Missense_Mutation_p.R1793C|SCN5A_ENST00000443581.1_Missense_Mutation_p.R1825C|SCN5A_ENST00000413689.1_Missense_Mutation_p.R1826C|SCN5A_ENST00000425664.1_Missense_Mutation_p.R1808C			Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	1826			R -> C (in ATFB10). {ECO:0000269|PubMed:18378609}.|R -> H (in LQT3; sodium current characterized by slower decay and a 2- to 3-fold increase in late sodium current).		AV node cell to bundle of His cell communication (GO:0086067)|brainstem development (GO:0003360)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cardiac muscle cell action potential involved in contraction (GO:0086002)|cardiac muscle contraction (GO:0060048)|cardiac ventricle development (GO:0003231)|cellular response to calcium ion (GO:0071277)|cerebellum development (GO:0021549)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane depolarization during SA node cell action potential (GO:0086046)|neuronal action potential (GO:0019228)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of action potential (GO:0045760)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of sodium ion transport (GO:0010765)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of sodium ion transmembrane transport (GO:1902305)|regulation of ventricular cardiac muscle cell membrane depolarization (GO:0060373)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|telencephalon development (GO:0021537)|ventricular cardiac muscle cell action potential (GO:0086005)	caveola (GO:0005901)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	ankyrin binding (GO:0030506)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|fibroblast growth factor binding (GO:0017134)|ion channel binding (GO:0044325)|nitric-oxide synthase binding (GO:0050998)|protein kinase binding (GO:0019901)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)|voltage-gated sodium channel activity (GO:0005248)|voltage-gated sodium channel activity involved in cardiac muscle cell action potential (GO:0086006)			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Ajmaline(DB01426)|Aprindine(DB01429)|Benzonatate(DB00868)|Carbamazepine(DB00564)|Cinchocaine(DB00527)|Cocaine(DB00907)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lidocaine(DB00281)|Mexiletine(DB00379)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine barbiturate(DB01346)|Quinidine(DB00908)|Ranolazine(DB00243)|Riluzole(DB00740)|Tocainide(DB01056)|Valproic Acid(DB00313)|Verapamil(DB00661)|Zonisamide(DB00909)	TTGGCGATACGGAGTGGCTCA	0.507																																						ENST00000413689.1																			0				NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107						c.(5476-5478)Cgt>Tgt		sodium channel, voltage-gated, type V, alpha subunit	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	G	CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG	0,4286		0,0,2143	69	75	73		5473,5476,5422,5377,5314,5476	4.8	0.8	3		73	1,8541		0,1,4270	no	missense,missense,missense,missense,missense,missense	SCN5A	NM_000335.4,NM_001099404.1,NM_001099405.1,NM_001160160.1,NM_001160161.1,NM_198056.2	180,180,180,180,180,180	0,1,6413	AA,AG,GG		0.0117,0.0,0.0078	possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging	1825/2016,1826/2017,1808/1999,1793/1984,1772/1963,1826/2017	38592387	1,12827	2143	4271	6414	SO:0001583	missense	6331				blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity	g.chr3:38592387G>A	AJ310893	CCDS46796.1, CCDS46797.1, CCDS46798.1, CCDS46799.1, CCDS54569.1, CCDS54570.1	3p21	2014-09-17	2007-01-23		ENSG00000183873	ENSG00000183873		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10593	protein-coding gene	gene with protein product	"long QT syndrome 3"	600163	"sodium channel, voltage-gated, type V, alpha (long QT syndrome 3)"	CMD1E		7842012, 15466643, 16382098	Standard	NM_198056		Approved	Nav1.5, LQT3, HB1, HBBD, PFHB1, IVF, HB2, HH1, SSS1, CDCD2, CMPD2, ICCD	uc021wvl.1	Q14524	OTTHUMG00000156166	ENST00000333535.4:c.5476C>T	3.37:g.38592387G>A	ENSP00000328968:p.Arg1826Cys					SCN5A_ENST00000333535.4_Missense_Mutation_p.R1826C|SCN5A_ENST00000449557.2_Missense_Mutation_p.R1772C|SCN5A_ENST00000423572.2_Missense_Mutation_p.R1825C|SCN5A_ENST00000425664.1_Missense_Mutation_p.R1808C|SCN5A_ENST00000455624.2_Missense_Mutation_p.R1793C|SCN5A_ENST00000443581.1_Missense_Mutation_p.R1825C|SCN5A_ENST00000451551.2_Missense_Mutation_p.R1772C|SCN5A_ENST00000414099.2_Missense_Mutation_p.R1808C|SCN5A_ENST00000450102.2_Missense_Mutation_p.R1772C	p.R1826C	NM_001099404.1|NM_001160160.1	NP_001092874.1|NP_001153632.1	Q14524	SCN5A_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	28	5669	-	Medulloblastoma(35;0.163)		1826		R -> C (found in patients with atrial fibrillation).|R -> H (in LQT3; sodium current characterized by slower decay and a 2- to 3-fold increase in late sodium current).			A5H1P8|A6N922|A6N923|B2RTU0|E7ET19|E9PEF3|E9PEK2|E9PFW7|Q59H93|Q75RX9|Q75RY0|Q86UR3|Q8IZC9|Q96J69	Missense_Mutation	SNP	ENST00000333535.4	37	c.5476C>T	CCDS46796.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.217872	0.79352	0.0	1.17E-4	ENSG00000183873	ENST00000414099;ENST00000423572;ENST00000413689;ENST00000451551;ENST00000443581;ENST00000425664;ENST00000333535;ENST00000455624;ENST00000450102;ENST00000449557	D;D;D;D;D;D;D;D;D;D	0.96396	-3.89;-3.92;-3.92;-3.97;-3.92;-3.89;-3.92;-4.0;-3.97;-3.96	4.82	4.82	0.62117	.	0.000000	0.85682	D	0.000000	D	0.98343	0.9450	M	0.88704	2.975	0.80722	D	1	P;D;P;P;D;P	0.89917	0.747;1.0;0.865;0.95;0.96;0.863	B;D;B;P;P;P	0.79784	0.104;0.993;0.402;0.509;0.825;0.592	D	0.99113	1.0847	10	0.62326	D	0.03	.	18.0868	0.89460	0.0:0.0:1.0:0.0	.	1772;1793;1808;1826;1825;1826	E9PEF3;E9PHB6;E9PG18;Q14524;Q14524-2;E9PEK2	.;.;.;SCN5A_HUMAN;.;.	C	1808;1825;1826;1772;1825;1808;1826;1793;1772;1772	ENSP00000398962:R1808C;ENSP00000398266:R1825C;ENSP00000410257:R1826C;ENSP00000388797:R1772C;ENSP00000397915:R1825C;ENSP00000416634:R1808C;ENSP00000328968:R1826C;ENSP00000399524:R1793C;ENSP00000403355:R1772C;ENSP00000413996:R1772C	ENSP00000328968:R1826C	R	-	1	0	SCN5A	38567391	1.000000	0.71417	0.843000	0.33291	0.975000	0.68041	5.382000	0.66213	2.504000	0.84457	0.563000	0.77884	CGT		0.507	SCN5A-014	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000377958.1	NM_198056		4	60	0	0	0	1	0	4	60					A	38592387	G	A	38592387	3	1	160	1	0	0	0	0	1	0	0	0	13922	1116	39	2	578	2	SCN5A	3	38592387	Missense_Mutation	SNP	G	TCGA-G9-6354-01A-11D-A30X-08	13089632	38592387	159430043	6	7706											
QARS	5859	broad.mit.edu	37	chr3	49136843	49136843	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cgcagggccgtgagtgtaaaGagccgtgggtcatcccagtc	8	7	15	11	3	1	2	1	1	0	1	3	2	2	2	3	2	1	2	3	2	2	1			TCGA-G9-6354-01A-11D-A30X-08	TCGA-G9-6354-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea8eed7-1e59-4888-b285-e5aa3d73cbd9	eba48f21-c778-4331-97c5-e28b88cc0627	g.chr3:49136843G>A	ENST00000306125.6	-	17	1885	c.1548C>T	c.(1546-1548)ctC>ctT	p.L516L	QARS_ENST00000470225.1_5'Flank|QARS_ENST00000414533.1_Silent_p.L505L			P47897	SYQ_HUMAN	glutaminyl-tRNA synthetase	516					brain development (GO:0007420)|gene expression (GO:0010467)|glutaminyl-tRNA aminoacylation (GO:0006425)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrial matrix (GO:0005759)	ATP binding (GO:0005524)|glutamine-tRNA ligase activity (GO:0004819)			breast(1)|endometrium(1)|large_intestine(9)|lung(4)|ovary(1)|prostate(2)|urinary_tract(1)	19				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	L-Glutamine(DB00130)	TGAGTGTAAAGAGCCGTGGGT	0.567																																						ENST00000306125.6																			0				breast(1)|endometrium(1)|large_intestine(9)|lung(4)|ovary(1)|prostate(2)|urinary_tract(1)	19						c.(1546-1548)ctC>ctT		glutaminyl-tRNA synthetase	L-Glutamine(DB00130)						85	90	88					3																	49136843		2203	4300	6503	SO:0001819	synonymous_variant	5859				glutaminyl-tRNA aminoacylation	cytosol|mitochondrial matrix	ATP binding|glutamine-tRNA ligase activity|protein binding	g.chr3:49136843G>A	X76013	CCDS2788.1, CCDS63633.1	3p21.31	2011-07-01			ENSG00000172053	ENSG00000172053	6.1.1.18	"Aminoacyl tRNA synthetases / Class I"	9751	protein-coding gene	gene with protein product	"glutamine tRNA ligase"	603727				8078941, 10393422	Standard	NM_005051		Approved		uc003cvx.4	P47897	OTTHUMG00000156774	ENST00000306125.6:c.1548C>T	3.37:g.49136843G>A						QARS_ENST00000414533.1_Silent_p.L505L	p.L516L			P47897	SYQ_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	17	1885	-			516					B4DWJ2	Silent	SNP	ENST00000306125.6	37	c.1548C>T	CCDS2788.1																																																																																				0.567	QARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345689.2	NM_005051		9	73	0	0	0	1	0	9	73					A	49136843	G	A	49136843	2	1	160	1	0	0	0	0	0	0	0	1	12871	929	33	3		3	QARS	3	49136843	Silent	SNP	G	TCGA-G9-6354-01A-11D-A30X-08	10544456	49136843	148885587	7	7707											
BSN	8927	broad.mit.edu	37	chr3	49691395	49691395	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cactcctcagccttcccgggCatattcctactttgcaagct	7	12	6	16	1	1	0	1	0	0	0	4	0	4	0	4	1	4	3	4	1	3	5			TCGA-G9-6354-01A-11D-A30X-08	TCGA-G9-6354-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea8eed7-1e59-4888-b285-e5aa3d73cbd9	eba48f21-c778-4331-97c5-e28b88cc0627	g.chr3:49691395C>A	ENST00000296452.4	+	5	4520	c.4406C>A	c.(4405-4407)gCa>gAa	p.A1469E		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	1469					synaptic transmission (GO:0007268)	axon (GO:0030424)|cell junction (GO:0030054)|dendrite (GO:0030425)|neuron projection terminus (GO:0044306)|nucleus (GO:0005634)|presynaptic cytoskeletal matrix assembled at active zones (GO:0048788)	metal ion binding (GO:0046872)			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		CCTTCCCGGGCATATTCCTAC	0.632																																						ENST00000296452.4																			0				breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106						c.(4405-4407)gCa>gAa		bassoon presynaptic cytomatrix protein							130	123	125					3																	49691395		2203	4300	6503	SO:0001583	missense	8927				synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding	g.chr3:49691395C>A	AF052224	CCDS2800.1	3p21	2013-01-07	2013-01-07		ENSG00000164061	ENSG00000164061			1117	protein-coding gene	gene with protein product	"zinc finger protein 231", "neuronal double zinc finger protein"	604020	"bassoon (presynaptic cytomatrix protein)"	ZNF231		9806829, 10329005	Standard	NM_003458		Approved		uc003cxe.4	Q9UPA5	OTTHUMG00000133750	ENST00000296452.4:c.4406C>A	3.37:g.49691395C>A	ENSP00000296452:p.Ala1469Glu						p.A1469E	NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN		BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)	5	4520	+			1469					O43161|Q7LGH3	Missense_Mutation	SNP	ENST00000296452.4	37	c.4406C>A	CCDS2800.1	.	.	.	.	.	.	.	.	.	.	C	8.413	0.844637	0.16963	.	.	ENSG00000164061	ENST00000296452	T	0.17370	2.28	5.25	1.18	0.20946	.	0.834249	0.10687	N	0.645714	T	0.08582	0.0213	N	0.08118	0	0.09310	N	1	B	0.20550	0.046	B	0.17722	0.019	T	0.41556	-0.9502	10	0.19147	T	0.46	.	10.6711	0.45760	0.0:0.4846:0.2227:0.2927	.	1469	Q9UPA5	BSN_HUMAN	E	1469	ENSP00000296452:A1469E	ENSP00000296452:A1469E	A	+	2	0	BSN	49666399	0.927000	0.31430	0.078000	0.20375	0.832000	0.47134	1.472000	0.35376	-0.073000	0.12842	0.462000	0.41574	GCA		0.632	BSN-001	KNOWN	NMD_exception|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000258164.1	NM_003458		4	95	1	0	0.00198382	1	0.00198382	4	95					A	49691395	C	A	49691395	3	1	160	1	0	0	0	0	1	0	0	0	1530	710	25	5	4424	5	BSN	3	49691395	Missense_Mutation	SNP	C	TCGA-G9-6354-01A-11D-A30X-08	554552	49691395	148331035	8	7708											
CCDC39	339829	broad.mit.edu	37	chr3	180359822	180359822	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaacatatcttatttgtgaCgcaagcattgttttatgaac	12	16	6	7	1	2	2	1	2	1	0	2	2	2	2	0	0	3	3	0	0	6	6	rs371164022		TCGA-G9-6354-01A-11D-A30X-08	TCGA-G9-6354-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea8eed7-1e59-4888-b285-e5aa3d73cbd9	eba48f21-c778-4331-97c5-e28b88cc0627	g.chr3:180359822C>T	ENST00000442201.2	-	13	1952	c.1833G>A	c.(1831-1833)gcG>gcA	p.A611A	CCDC39_ENST00000273654.4_Silent_p.A695A	NM_181426.1	NP_852091.1	Q9UFE4	CCD39_HUMAN	coiled-coil domain containing 39	611					axonemal dynein complex assembly (GO:0070286)|cilium-dependent cell motility (GO:0060285)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of liver left/right asymmetry (GO:0071910)|determination of pancreatic left/right asymmetry (GO:0035469)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|heart looping (GO:0001947)|lung development (GO:0030324)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)				NS(1)|breast(1)|endometrium(4)|large_intestine(9)|lung(22)|ovary(6)|prostate(2)	45	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)			TTATTTGTGACGCAAGCATTG	0.348																																						ENST00000273654.4																			0				NS(1)|breast(1)|endometrium(4)|large_intestine(9)|lung(22)|ovary(6)|prostate(2)	45						c.(2083-2085)gcG>gcA		coiled-coil domain containing 39		C		0,3668		0,0,1834	166	152	157		1833	-9.8	0.1	3		157	1,8181		0,1,4090	no	coding-synonymous	CCDC39	NM_181426.1		0,1,5924	TT,TC,CC		0.0122,0.0,0.0084		611/942	180359822	1,11849	1834	4091	5925	SO:0001819	synonymous_variant	339829				axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium axoneme|cytoplasm|cytoskeleton		g.chr3:180359822C>T	BC047103	CCDS46964.1	3q26.33	2012-07-27			ENSG00000145075	ENSG00000145075			25244	protein-coding gene	gene with protein product		613798				21131972	Standard	NM_181426		Approved	DKFZp434A128, CILD14, FAP59	uc010hxe.3	Q9UFE4	OTTHUMG00000157857	ENST00000442201.2:c.1833G>A	3.37:g.180359822C>T						CCDC39_ENST00000442201.2_Silent_p.A611A	p.A695A			Q9UFE4	CCD39_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)		19	2704	-	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		611					B4E2H1	Silent	SNP	ENST00000442201.2	37	c.2085G>A	CCDS46964.1																																																																																				0.348	CCDC39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349783.3	XM_291028		6	63	0	0	0	1	0	6	63					T	180359822	C	T	180359822	2	4	160	1	0	0	0	0	0	0	0	1	2811	523	19	1		1	CCDC39	3	180359822	Silent	SNP	C	TCGA-G9-6354-01A-11D-A30X-08	130668427	180359822	17662608	9	7709											
TBC1D19	55296	broad.mit.edu	37	chr4	26622268	26622268	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtcatcctgctgcacctccTgaacatcttaaagaaccttt	11	12	5	13	0	2	2	1	1	1	1	4	2	4	2	4	0	4	2	4	0	4	2			TCGA-G9-6354-01A-11D-A30X-08	TCGA-G9-6354-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea8eed7-1e59-4888-b285-e5aa3d73cbd9	eba48f21-c778-4331-97c5-e28b88cc0627	g.chr4:26622268T>A	ENST00000264866.4	+	4	530	c.252T>A	c.(250-252)ccT>ccA	p.P84P	TBC1D19_ENST00000515568.1_3'UTR|TBC1D19_ENST00000511789.1_Intron	NM_018317.2	NP_060787.2	Q8N5T2	TBC19_HUMAN	TBC1 domain family, member 19	84							Rab GTPase activator activity (GO:0005097)			breast(4)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	17		Breast(46;0.0503)				CTGCACCTCCTGAACATCTTA	0.368																																						ENST00000264866.4																			0				breast(4)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	17						c.(250-252)ccT>ccA		TBC1 domain family, member 19							124	118	120					4																	26622268		2203	4300	6503	SO:0001819	synonymous_variant	55296					intracellular	Rab GTPase activator activity	g.chr4:26622268T>A	AK001944	CCDS3439.1, CCDS75115.1	4p15.2	2008-02-05			ENSG00000109680	ENSG00000109680			25624	protein-coding gene	gene with protein product							Standard	XM_006713967		Approved	FLJ11082	uc003gsf.4	Q8N5T2	OTTHUMG00000097797	ENST00000264866.4:c.252T>A	4.37:g.26622268T>A						TBC1D19_ENST00000511789.1_Intron|TBC1D19_ENST00000515568.1_3'UTR	p.P84P	NM_018317.2	NP_060787.2	Q8N5T2	TBC19_HUMAN			4	530	+		Breast(46;0.0503)	84					B9A6M0|Q9NUX1	Silent	SNP	ENST00000264866.4	37	c.252T>A	CCDS3439.1																																																																																				0.368	TBC1D19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215052.2	NM_018317		6	56	0	0	0	1	0	6	56					A	26622268	T	A	26622268	2	1	160	1	0	0	0	0	0	0	0	1	15604	1567	55	5		5	TBC1D19	4	26622268	Silent	SNP	T	TCGA-G9-6354-01A-11D-A30X-08		26622268	164532008	10	7710											
EXOC1	55763	broad.mit.edu	37	chr4	56768605	56768605	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aacaaacaagaacttcgtaaAgtcattaaggagtaccctgg	17	8	8	8	1	1	1	1	0	0	1	2	2	1	2	1	2	4	2	1	2	8	4			TCGA-G9-6354-01A-11D-A30X-08	TCGA-G9-6354-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea8eed7-1e59-4888-b285-e5aa3d73cbd9	eba48f21-c778-4331-97c5-e28b88cc0627	g.chr4:56768605A>G	ENST00000381295.2	+	18	2781	c.2433A>G	c.(2431-2433)aaA>aaG	p.K811K	EXOC1_ENST00000349598.6_Silent_p.K796K|EXOC1_ENST00000346134.7_Silent_p.K811K	NM_001024924.1	NP_001020095.1	Q9NV70	EXOC1_HUMAN	exocyst complex component 1	811					cellular protein metabolic process (GO:0044267)|exocytosis (GO:0006887)|membrane organization (GO:0061024)|protein transport (GO:0015031)	exocyst (GO:0000145)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	35	Glioma(25;0.08)|all_neural(26;0.101)					AACTTCGTAAAGTCATTAAGG	0.388																																						ENST00000381295.2																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	35						c.(2431-2433)aaA>aaG		exocyst complex component 1							109	111	110					4																	56768605		2203	4300	6503	SO:0001819	synonymous_variant	55763				exocytosis|protein transport	exocyst	protein binding	g.chr4:56768605A>G	AK027047	CCDS3502.1, CCDS3503.1	4q12	2013-01-22	2005-11-01	2005-11-01	ENSG00000090989	ENSG00000090989			30380	protein-coding gene	gene with protein product		607879	"SEC3-like 1 (S. cerevisiae)"	SEC3L1		11042152, 11406615	Standard	XM_005265747		Approved	SEC3, FLJ10893, BM-102, Sec3p	uc003hbf.1	Q9NV70	OTTHUMG00000102165	ENST00000381295.2:c.2433A>G	4.37:g.56768605A>G						EXOC1_ENST00000346134.7_Silent_p.K811K|EXOC1_ENST00000349598.6_Silent_p.K796K	p.K811K	NM_001024924.1	NP_001020095.1	Q9NV70	EXOC1_HUMAN			18	2781	+	Glioma(25;0.08)|all_neural(26;0.101)		811					Q504V4|Q8WUE7|Q96T15|Q9NZE4	Silent	SNP	ENST00000381295.2	37	c.2433A>G	CCDS3502.1																																																																																				0.388	EXOC1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361799.1	NM_018261		4	59	0	0	0	1	0	4	59					G	56768605	A	G	56768605	2	3	160	1	0	0	0	0	0	0	0	1	5301	69	3	4		4	EXOC1	4	56768605	Silent	SNP	A	TCGA-G9-6354-01A-11D-A30X-08	30146337	56768605	134385671	11	7711											
APBB3	10307	broad.mit.edu	37	chr5	139938336	139938336	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggtccgcttgagccgcaggCgggcacgggcctgggcaccc	4	5	17	15	4	0	1	0	1	0	0	1	1	1	1	4	5	1	4	4	5	0	1	rs138766975		TCGA-G9-6354-01A-11D-A30X-08	TCGA-G9-6354-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea8eed7-1e59-4888-b285-e5aa3d73cbd9	eba48f21-c778-4331-97c5-e28b88cc0627	g.chr5:139938336C>T	ENST00000357560.4	-	13	1738	c.1295G>A	c.(1294-1296)cGc>cAc	p.R432H	APBB3_ENST00000356738.2_Missense_Mutation_p.R437H|APBB3_ENST00000358580.5_3'UTR|APBB3_ENST00000508496.2_Missense_Mutation_p.R209H|APBB3_ENST00000412920.3_Missense_Mutation_p.R430H|APBB3_ENST00000354402.5_Missense_Mutation_p.R439H|SRA1_ENST00000336283.6_5'Flank|SRA1_ENST00000520427.1_5'Flank	NM_006051.3|NM_133173.2	NP_006042.3|NP_573419.2	O95704	APBB3_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 3	432	PID 2. {ECO:0000255|PROSITE- ProRule:PRU00148}.					actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)	11			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAGCCGCAGGCGGGCACGGGC	0.662																																						ENST00000357560.4																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)	11						c.(1294-1296)cGc>cAc		amyloid beta (A4) precursor protein-binding, family B, member 3		C	HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG	0,4394		0,0,2197	26	31	29		1316,1310,1295,1289	4.8	1	5	dbSNP_134	29	2,8588		0,2,4293	no	missense,missense,missense,missense	APBB3	NM_006051.3,NM_133172.2,NM_133173.2,NM_133174.2	29,29,29,29	0,2,6490	TT,TC,CC		0.0233,0.0,0.0154	probably-damaging,probably-damaging,probably-damaging,probably-damaging	439/494,437/492,432/487,430/485	139938336	2,12982	2197	4295	6492	SO:0001583	missense	10307					actin cytoskeleton|cytoplasm		g.chr5:139938336C>T	AB018247	CCDS4227.1, CCDS4228.1, CCDS4229.1, CCDS47279.1	5q31	2008-02-05			ENSG00000113108	ENSG00000113108			20708	protein-coding gene	gene with protein product		602711				9407065	Standard	NM_133172		Approved	FE65L2	uc003lgd.1	O95704	OTTHUMG00000129504	ENST00000357560.4:c.1295G>A	5.37:g.139938336C>T	ENSP00000350171:p.Arg432His					APBB3_ENST00000358580.5_3'UTR|APBB3_ENST00000356738.2_Missense_Mutation_p.R437H|APBB3_ENST00000354402.5_Missense_Mutation_p.R439H|APBB3_ENST00000508496.2_Missense_Mutation_p.R209H|APBB3_ENST00000412920.3_Missense_Mutation_p.R430H	p.R432H	NM_006051.3|NM_133173.2	NP_006042.3|NP_573419.2	O95704	APBB3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		13	1738	-			432			PID 2.		B3KQN9|Q08AG4|Q96Q18|Q9BYD4|Q9NYX6|Q9NYX7|Q9NYX8	Missense_Mutation	SNP	ENST00000357560.4	37	c.1295G>A	CCDS4229.1	.	.	.	.	.	.	.	.	.	.	C	14.89	2.671568	0.47781	0.0	2.33E-4	ENSG00000113108	ENST00000356738;ENST00000354402;ENST00000357560;ENST00000508496;ENST00000412920	T;T;T;T;T	0.44881	1.91;1.91;1.91;0.91;1.91	4.76	4.76	0.60689	.	0.405962	0.23149	N	0.051375	T	0.47451	0.1446	L	0.36672	1.1	0.80722	D	1	D;D	0.71674	0.997;0.998	P;P	0.61003	0.687;0.882	T	0.32877	-0.9890	9	.	.	.	-11.4425	10.5566	0.45121	0.1928:0.8072:0.0:0.0	.	430;437	O95704-2;O95704-3	.;.	H	437;439;432;209;430	ENSP00000349177:R437H;ENSP00000346378:R439H;ENSP00000350171:R432H;ENSP00000444013:R209H;ENSP00000402591:R430H	.	R	-	2	0	APBB3	139918520	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	2.901000	0.48695	2.198000	0.70561	0.455000	0.32223	CGC		0.662	APBB3-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251677.2	NM_006051		4	63	0	0	0	1	0	4	63					T	139938336	C	T	139938336	3	4	160	1	0	0	0	0	1	0	0	0	762	768	27	1	169	1	APBB3	5	139938336	Missense_Mutation	SNP	C	TCGA-G9-6354-01A-11D-A30X-08		139938336	40976924	12	7712											
SH3TC2	79628	broad.mit.edu	37	chr5	148406714	148406714	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctgggctctgttcaaggcccGaagatagctcttggctgccc	6	10	12	13	1	3	1	1	0	2	1	3	2	3	1	2	3	2	4	2	3	3	3	rs147490172		TCGA-G9-6354-01A-11D-A30X-08	TCGA-G9-6354-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea8eed7-1e59-4888-b285-e5aa3d73cbd9	eba48f21-c778-4331-97c5-e28b88cc0627	g.chr5:148406714G>A	ENST00000515425.1	-	11	2682	c.2581C>T	c.(2581-2583)Cgg>Tgg	p.R861W	SH3TC2_ENST00000538184.1_Missense_Mutation_p.R408W|SH3TC2_ENST00000394358.2_Missense_Mutation_p.R746W|SH3TC2_ENST00000512049.1_Missense_Mutation_p.R854W|SH3TC2_ENST00000513340.1_5'Flank	NM_024577.3	NP_078853.2	Q8TF17	S3TC2_HUMAN	SH3 domain and tetratricopeptide repeats 2	861					cell death (GO:0008219)|peripheral nervous system myelin maintenance (GO:0032287)|regulation of ERBB signaling pathway (GO:1901184)|regulation of intracellular protein transport (GO:0033157)	cytoplasmic vesicle (GO:0031410)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	39			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTCAAGGCCCGAAGATAGCTC	0.567																																						ENST00000538184.1																			0				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	39						c.(1222-1224)Cgg>Tgg		SH3 domain and tetratricopeptide repeats 2		G	TRP/ARG	0,4406		0,0,2203	138	151	146		2581	3	1	5	dbSNP_134	146	1,8599	1.2+/-3.3	0,1,4299	no	missense	SH3TC2	NM_024577.3	101	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	861/1289	148406714	1,13005	2203	4300	6503	SO:0001583	missense	79628						binding	g.chr5:148406714G>A	AK127248	CCDS4293.1	5q32	2014-09-17			ENSG00000169247	ENSG00000169247		"Tetratricopeptide (TTC) repeat domain containing"	29427	protein-coding gene	gene with protein product		608206				14574644	Standard	NM_024577		Approved	KIAA1985, CMT4C	uc003lpu.3	Q8TF17	OTTHUMG00000129930	ENST00000515425.1:c.2581C>T	5.37:g.148406714G>A	ENSP00000423660:p.Arg861Trp					SH3TC2_ENST00000512049.1_Missense_Mutation_p.R854W|SH3TC2_ENST00000394358.2_Missense_Mutation_p.R746W|SH3TC2_ENST00000515425.1_Missense_Mutation_p.R861W	p.R408W			Q8TF17	S3TC2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		7	2110	-			861					B3KWE5|Q14CC0|Q14CF5|Q9H8I5	Missense_Mutation	SNP	ENST00000515425.1	37	c.1222C>T	CCDS4293.1	.	.	.	.	.	.	.	.	.	.	G	6.201	0.405279	0.11754	0.0	1.16E-4	ENSG00000169247	ENST00000538184;ENST00000515425;ENST00000512049;ENST00000394358	T;D;D;D	0.94966	-1.17;-3.57;-3.57;-3.57	6.16	3.05	0.35203	Tetratricopeptide-like helical (1);	0.322330	0.31554	N	0.007457	D	0.89291	0.6673	L	0.46157	1.445	0.09310	N	1	B;B;B;B	0.31910	0.346;0.201;0.201;0.201	B;B;B;B	0.20184	0.02;0.028;0.028;0.028	T	0.81771	-0.0780	10	0.48119	T	0.1	-7.6873	8.2433	0.31673	0.2489:0.0:0.6386:0.1125	.	746;854;861;861	C9JLC3;Q14CC0;E9PDF1;Q8TF17	.;.;.;S3TC2_HUMAN	W	408;861;854;746	ENSP00000441427:R408W;ENSP00000423660:R861W;ENSP00000421860:R854W;ENSP00000377886:R746W	ENSP00000377886:R746W	R	-	1	2	SH3TC2	148386907	0.005000	0.15991	0.973000	0.42090	0.569000	0.35902	1.205000	0.32308	0.951000	0.37770	-0.142000	0.14014	CGG		0.567	SH3TC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252186.2	NM_024577		5	227	0	0	0	1	0	5	227					A	148406714	G	A	148406714	3	1	160	1	0	0	0	0	1	0	0	0	14262	1057	37	2	1313	2	SH3TC2	5	148406714	Missense_Mutation	SNP	G	TCGA-G9-6354-01A-11D-A30X-08	8468378	148406714	32508546	13	7713											
RUNX2	860	broad.mit.edu	37	chr6	45390445	45390445	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cagcaacagcagcagcagcaAcagcagcagcagcagcagca	16	0	11	14	0	0	0	0	0	0	0	0	0	0	0	0	0	13	11	0	0	2	0	rs563987595	byFrequency	TCGA-G9-6354-01A-11D-A30X-08	TCGA-G9-6354-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea8eed7-1e59-4888-b285-e5aa3d73cbd9	eba48f21-c778-4331-97c5-e28b88cc0627	g.chr6:45390445A>G	ENST00000371438.1	+	2	532	c.174A>G	c.(172-174)caA>caG	p.Q58Q	RUNX2_ENST00000371432.3_Silent_p.Q44Q|RP1-244F24.1_ENST00000606796.1_RNA|RUNX2_ENST00000352853.5_Silent_p.Q126Q|RUNX2_ENST00000359524.5_Silent_p.Q44Q|RUNX2_ENST00000465038.2_Silent_p.Q58Q|RUNX2_ENST00000576263.1_Silent_p.Q58Q|RUNX2_ENST00000371436.6_Silent_p.Q58Q|RUNX2_ENST00000541979.1_Silent_p.Q126Q	NM_001024630.3	NP_001019801.3	Q13950	RUNX2_HUMAN	runt-related transcription factor 2	58	Poly-Gln.				BMP signaling pathway (GO:0030509)|cell maturation (GO:0048469)|cellular response to BMP stimulus (GO:0071773)|chondrocyte development (GO:0002063)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic forelimb morphogenesis (GO:0035115)|endochondral ossification (GO:0001958)|gene expression (GO:0010467)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription, DNA-templated (GO:0045892)|odontogenesis of dentin-containing tooth (GO:0042475)|ossification (GO:0001503)|osteoblast development (GO:0002076)|osteoblast differentiation (GO:0001649)|osteoblast fate commitment (GO:0002051)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus (GO:1901522)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|regulation of odontogenesis of dentin-containing tooth (GO:0042487)|stem cell differentiation (GO:0048863)|T cell differentiation (GO:0030217)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						agcagcagcaacagcagcagc	0.731													A|||	6	0.00119808	0.0015	0	5008	,	,		8050	0.002		0	False		,,,				2504	0.002					ENST00000371438.1																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						c.(172-174)caA>caG		runt-related transcription factor 2							16	24	21					6																	45390445		1589	3298	4887	SO:0001819	synonymous_variant	860				negative regulation of transcription, DNA-dependent|osteoblast differentiation|positive regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr6:45390445A>G	AF001450	CCDS43467.1, CCDS43468.1, CCDS43467.2, CCDS43468.2	6p21	2010-08-20			ENSG00000124813	ENSG00000124813			10472	protein-coding gene	gene with protein product		600211		CCD, CBFA1, CCD1		7835892	Standard	NM_001024630		Approved	AML3, PEBP2A1, PEBP2aA1	uc011dvx.2	Q13950	OTTHUMG00000014774	ENST00000371438.1:c.174A>G	6.37:g.45390445A>G						RUNX2_ENST00000541979.1_Silent_p.Q126Q|RUNX2_ENST00000352853.5_Silent_p.Q126Q|RUNX2_ENST00000371432.3_Silent_p.Q44Q|RUNX2_ENST00000465038.2_Silent_p.Q58Q|RUNX2_ENST00000576263.1_Silent_p.Q58Q|RUNX2_ENST00000371436.6_Silent_p.Q58Q|RUNX2_ENST00000359524.5_Silent_p.Q44Q	p.Q58Q	NM_001024630.3	NP_001019801.3	Q13950	RUNX2_HUMAN			2	532	+			58			Poly-Gln.		O14614|O14615|O95181	Silent	SNP	ENST00000371438.1	37	c.174A>G	CCDS43467.2																																																																																				0.731	RUNX2-003	KNOWN	not_organism_supported|upstream_ATG|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040755.2	NM_004348		3	58	0	0	0	1	0	3	58					G	45390445	A	G	45390445	2	3	160	1	0	0	0	0	0	0	0	1	13748	40	2	4		4	RUNX2	6	45390445	Silent	SNP	A	TCGA-G9-6354-01A-11D-A30X-08		45390445	125724622	14	7714											
HTR1E	3354	broad.mit.edu	37	chr6	87725911	87725911	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agatctctagcaccagggaaCggaaggcagcacgcatcctg	12	5	12	12	2	1	1	0	0	1	1	3	3	2	3	2	3	3	4	2	3	3	1	rs375047597		TCGA-G9-6354-01A-11D-A30X-08	TCGA-G9-6354-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea8eed7-1e59-4888-b285-e5aa3d73cbd9	eba48f21-c778-4331-97c5-e28b88cc0627	g.chr6:87725911C>T	ENST00000305344.5	+	2	1562	c.859C>T	c.(859-861)Cgg>Tgg	p.R287W		NM_000865.2	NP_000856.1	P28566	5HT1E_HUMAN	5-hydroxytryptamine (serotonin) receptor 1E, G protein-coupled	287					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|negative regulation of cAMP metabolic process (GO:0030815)|serotonin receptor signaling pathway (GO:0007210)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)			breast(3)|endometrium(2)|kidney(3)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(3)	41		all_cancers(76;7.11e-06)|Acute lymphoblastic leukemia(125;1.2e-09)|Prostate(29;3.51e-09)|all_hematologic(105;7.43e-06)|all_epithelial(107;0.00819)		BRCA - Breast invasive adenocarcinoma(108;0.055)	Aripiprazole(DB01238)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Ketamine(DB01221)|Loxapine(DB00408)|Methysergide(DB00247)|Olanzapine(DB00334)|Quetiapine(DB01224)|Ziprasidone(DB00246)	CACCAGGGAACGGAAGGCAGC	0.502																																						ENST00000305344.4																			0				breast(3)|endometrium(2)|kidney(3)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(3)	41						c.(859-861)Cgg>Tgg		5-hydroxytryptamine (serotonin) receptor 1E, G protein-coupled	Eletriptan(DB00216)	C	TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	175	162	166		859	3.5	1	6		166	0,8600		0,0,4300	no	missense	HTR1E	NM_000865.2	101	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	287/366	87725911	1,13005	2203	4300	6503	SO:0001583	missense	3354				G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	protein binding|serotonin binding|serotonin receptor activity	g.chr6:87725911C>T		CCDS5006.1	6q14-q15	2013-06-19	2012-02-03		ENSG00000168830	ENSG00000168830		"5-HT (serotonin) receptors", "GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"	5291	protein-coding gene	gene with protein product		182132	"5-hydroxytryptamine (serotonin) receptor 1E"			1608964	Standard	NM_000865		Approved	5-HT1E	uc003pli.3	P28566	OTTHUMG00000015154	ENST00000305344.5:c.859C>T	6.37:g.87725911C>T	ENSP00000307766:p.Arg287Trp					HTR1E_ENST00000369584.1_Missense_Mutation_p.R287W	p.R287W	NM_000865.2	NP_000856.1	P28566	5HT1E_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.055)	2	1562	+		all_cancers(76;7.11e-06)|Acute lymphoblastic leukemia(125;1.2e-09)|Prostate(29;3.51e-09)|all_hematologic(105;7.43e-06)|all_epithelial(107;0.00819)	287					E1P503|Q9P1Y1	Missense_Mutation	SNP	ENST00000305344.5	37	c.859C>T	CCDS5006.1	.	.	.	.	.	.	.	.	.	.	C	11.90	1.777978	0.31502	2.27E-4	0.0	ENSG00000168830	ENST00000305344;ENST00000369584	T;T	0.74002	-0.8;-0.8	4.44	3.54	0.40534	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	U	0.000016	D	0.84151	0.5409	M	0.90369	3.11	0.48762	D	0.999701	D	0.89917	1.0	D	0.91635	0.999	D	0.86757	0.1964	10	0.87932	D	0	.	11.4769	0.50304	0.3263:0.6737:0.0:0.0	.	287	P28566	5HT1E_HUMAN	W	287	ENSP00000307766:R287W;ENSP00000358597:R287W	ENSP00000307766:R287W	R	+	1	2	HTR1E	87782630	0.996000	0.38824	0.995000	0.50966	0.321000	0.28281	1.747000	0.38298	0.821000	0.34540	0.205000	0.17691	CGG		0.502	HTR1E-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000472488.2	NM_000865		12	149	0	0	0	1	0	12	149					T	87725911	C	T	87725911	3	4	160	1	0	0	0	0	1	0	0	0	7439	527	19	1	861	1	HTR1E	6	87725911	Missense_Mutation	SNP	C	TCGA-G9-6354-01A-11D-A30X-08	42335466	87725911	83389156	15	7715											
TAAR6	319100	broad.mit.edu	37	chr6	132891858	132891858	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctccatcgacaggtacattgCggttactgaccccctggtct	7	11	9	14	2	1	1	0	1	1	0	3	2	2	1	3	3	3	2	3	3	2	3			TCGA-G9-6354-01A-11D-A30X-08	TCGA-G9-6354-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea8eed7-1e59-4888-b285-e5aa3d73cbd9	eba48f21-c778-4331-97c5-e28b88cc0627	g.chr6:132891858C>T	ENST00000275198.1	+	1	398	c.398C>T	c.(397-399)gCg>gTg	p.A133V		NM_175067.1	NP_778237.1	Q96RI8	TAAR6_HUMAN	trace amine associated receptor 6	133					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|trace-amine receptor activity (GO:0001594)			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(19)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	41	Breast(56;0.112)			OV - Ovarian serous cystadenocarcinoma(155;0.006)|GBM - Glioblastoma multiforme(226;0.00792)		AGGTACATTGCGGTTACTGAC	0.488																																						ENST00000275198.1																			0				cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(19)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	41						c.(397-399)gCg>gTg		trace amine associated receptor 6							300	282	288					6																	132891858		2203	4300	6503	SO:0001583	missense	319100					plasma membrane	G-protein coupled receptor activity	g.chr6:132891858C>T	AF380192	CCDS5155.1	6q23.1	2012-08-08	2005-02-23	2005-02-24	ENSG00000146383	ENSG00000146383		"GPCR / Class A : Trace amine associated receptors"	20978	protein-coding gene	gene with protein product		608923	"trace amine receptor 4"	TRAR4		11459929, 15718104	Standard	NM_175067		Approved	TA4	uc011eck.2	Q96RI8	OTTHUMG00000015579	ENST00000275198.1:c.398C>T	6.37:g.132891858C>T	ENSP00000275198:p.Ala133Val						p.A133V	NM_175067.1	NP_778237.1	Q96RI8	TAAR6_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.006)|GBM - Glioblastoma multiforme(226;0.00792)	1	398	+	Breast(56;0.112)		133					Q5VUQ4	Missense_Mutation	SNP	ENST00000275198.1	37	c.398C>T	CCDS5155.1	.	.	.	.	.	.	.	.	.	.	C	15.75	2.924497	0.52653	.	.	ENSG00000146383	ENST00000275198;ENST00000539228	T	0.52057	0.68	5.11	4.24	0.50183	GPCR, rhodopsin-like superfamily (1);	0.000000	0.52532	D	0.000080	T	0.57710	0.2072	M	0.85462	2.755	0.42862	D	0.994118	D	0.55800	0.973	P	0.54924	0.764	T	0.69049	-0.5248	10	0.72032	D	0.01	-11.1587	15.8555	0.78975	0.0:0.8641:0.1359:0.0	.	133	Q96RI8	TAAR6_HUMAN	V	133;116	ENSP00000275198:A133V	ENSP00000275198:A133V	A	+	2	0	TAAR6	132933551	1.000000	0.71417	0.130000	0.21974	0.140000	0.21249	5.853000	0.69496	1.366000	0.46076	-0.156000	0.13503	GCG		0.488	TAAR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042255.1	NM_175067		94	209	0	0	0	1	0	94	209					T	132891858	C	T	132891858	3	4	160	1	0	0	0	0	1	0	0	0	15489	768	27	1	400	1	TAAR6	6	132891858	Missense_Mutation	SNP	C	TCGA-G9-6354-01A-11D-A30X-08	45165947	132891858	38223209	16	7716											
PLEKHG1	57480	broad.mit.edu	37	chr6	151055000	151055000	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gagctgattcctgccaggccGttttccagcagcgagctgca	7	9	12	13	2	0	1	0	1	0	0	2	3	2	1	4	1	6	5	4	1	0	3	rs145506185		TCGA-G9-6354-01A-11D-A30X-08	TCGA-G9-6354-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea8eed7-1e59-4888-b285-e5aa3d73cbd9	eba48f21-c778-4331-97c5-e28b88cc0627	g.chr6:151055000G>A	ENST00000358517.2	+	2	394	c.183G>A	c.(181-183)ccG>ccA	p.P61P	PLEKHG1_ENST00000367328.1_Silent_p.P61P			Q9ULL1	PKHG1_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 1	61							Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(19)|ovary(5)|prostate(4)|stomach(1)|urinary_tract(3)	53			BRCA - Breast invasive adenocarcinoma(37;0.0923)	OV - Ovarian serous cystadenocarcinoma(155;6.69e-13)		CTGCCAGGCCGTTTTCCAGCA	0.572													G|||	1	0.000199681	0	0	5008	,	,		16729	0		0	False		,,,				2504	0.001					ENST00000367328.1																			0				breast(3)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(19)|ovary(5)|prostate(4)|stomach(1)|urinary_tract(3)	53						c.(181-183)ccG>ccA		pleckstrin homology domain containing, family G (with RhoGef domain) member 1		G		1,4405	2.1+/-5.4	0,1,2202	45	50	48		183	-7	0	6	dbSNP_134	48	3,8597	3.0+/-9.4	0,3,4297	no	coding-synonymous	PLEKHG1	NM_001029884.1		0,4,6499	AA,AG,GG		0.0349,0.0227,0.0308		61/1386	151055000	4,13002	2203	4300	6503	SO:0001819	synonymous_variant	57480				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	g.chr6:151055000G>A	AB033035	CCDS34552.1	6q25.1	2013-01-11			ENSG00000120278	ENSG00000120278		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	20884	protein-coding gene	gene with protein product						10574462	Standard	XM_005267064		Approved	KIAA1209, ARHGEF41	uc003qny.1	Q9ULL1	OTTHUMG00000015824	ENST00000358517.2:c.183G>A	6.37:g.151055000G>A						PLEKHG1_ENST00000358517.2_Silent_p.P61P	p.P61P	NM_001029884.1	NP_001025055.1	Q9ULL1	PKHG1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.0923)	OV - Ovarian serous cystadenocarcinoma(155;6.69e-13)	3	495	+			61					Q5T1F2	Silent	SNP	ENST00000358517.2	37	c.183G>A	CCDS34552.1																																																																																				0.572	PLEKHG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042691.1			13	50	0	0	0	1	0	13	50					A	151055000	G	A	151055000	2	1	160	1	0	0	0	0	0	0	0	1	12068	1132	40	1		1	PLEKHG1	6	151055000	Silent	SNP	G	TCGA-G9-6354-01A-11D-A30X-08	18163142	151055000	20060067	17	7717											
PRKAR1B	5575	broad.mit.edu	37	chr7	716868	716868	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	ggggacgagtctgcctacctCctctcgttgtcatccaggtg	5	11	12	13	2	3	0	1	0	2	0	6	2	5	1	4	3	2	1	4	3	1	2			TCGA-G9-6354-01A-11D-A30X-08	TCGA-G9-6354-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea8eed7-1e59-4888-b285-e5aa3d73cbd9	eba48f21-c778-4331-97c5-e28b88cc0627	g.chr7:716868C>G	ENST00000406797.1	-	4	612	c.438G>C	c.(436-438)agG>agC	p.R146S	PRKAR1B_ENST00000537384.1_Missense_Mutation_p.R146S|PRKAR1B_ENST00000360274.4_Missense_Mutation_p.R146S|PRKAR1B_ENST00000544935.1_Missense_Mutation_p.R146S|PRKAR1B_ENST00000403562.1_Missense_Mutation_p.R146S	NM_001164761.1	NP_001158233.1	P31321	KAP1_HUMAN	protein kinase, cAMP-dependent, regulatory, type I, beta	146					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|blood coagulation (GO:0007596)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|negative regulation of cAMP-dependent protein kinase activity (GO:2000480)|neurotrophin TRK receptor signaling pathway (GO:0048011)|protein phosphorylation (GO:0006468)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cAMP-dependent protein kinase complex (GO:0005952)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|cAMP-dependent protein kinase inhibitor activity (GO:0004862)|cAMP-dependent protein kinase regulator activity (GO:0008603)|protein kinase A catalytic subunit binding (GO:0034236)			endometrium(4)|large_intestine(1)|liver(1)|lung(10)|prostate(1)	17		Ovarian(82;0.0779)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|Epithelial(4;5.75e-19)|OV - Ovarian serous cystadenocarcinoma(56;2.01e-18)|all cancers(6;3.96e-16)|BRCA - Breast invasive adenocarcinoma(126;0.152)		CTGCCTACCTCCTCTCGTTGT	0.642																																						ENST00000406797.1																			0				endometrium(4)|large_intestine(1)|liver(1)|lung(10)|prostate(1)	17						c.(436-438)agG>agC		protein kinase, cAMP-dependent, regulatory, type I, beta							271	189	217					7																	716868		2203	4300	6503	SO:0001583	missense	5575				activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|protein phosphorylation|regulation of insulin secretion|transmembrane transport|water transport	cAMP-dependent protein kinase complex|cytosol	cAMP binding|cAMP-dependent protein kinase regulator activity	g.chr7:716868C>G	M65066	CCDS34579.1	7p22.3	2013-09-19			ENSG00000188191	ENSG00000188191	2.7.11.1		9390	protein-coding gene	gene with protein product		176911				1358799, 3479018	Standard	NM_002735		Approved		uc003siw.2	P31321	OTTHUMG00000151411	ENST00000406797.1:c.438G>C	7.37:g.716868C>G	ENSP00000385749:p.Arg146Ser					PRKAR1B_ENST00000403562.1_Missense_Mutation_p.R146S|PRKAR1B_ENST00000544935.1_Missense_Mutation_p.R146S|PRKAR1B_ENST00000537384.1_Missense_Mutation_p.R146S|PRKAR1B_ENST00000360274.4_Missense_Mutation_p.R146S	p.R146S	NM_001164761.1	NP_001158233.1	P31321	KAP1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|Epithelial(4;5.75e-19)|OV - Ovarian serous cystadenocarcinoma(56;2.01e-18)|all cancers(6;3.96e-16)|BRCA - Breast invasive adenocarcinoma(126;0.152)	4	612	-		Ovarian(82;0.0779)	146					Q8N422	Missense_Mutation	SNP	ENST00000406797.1	37	c.438G>C	CCDS34579.1	.	.	.	.	.	.	.	.	.	.	C	14.91	2.676160	0.47886	.	.	ENSG00000188191	ENST00000537384;ENST00000544935;ENST00000406797;ENST00000403562;ENST00000360274;ENST00000430040;ENST00000414568;ENST00000417852	D;D;D;D;D;D;D;D	0.84660	-1.88;-1.88;-1.88;-1.88;-1.88;-1.88;-1.88;-1.88	4.63	-2.4	0.06583	Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);Cyclic nucleotide-binding domain (2);	0.061169	0.64402	U	0.000004	T	0.80042	0.4551	L	0.48986	1.54	0.58432	D	0.999999	P	0.48503	0.911	B	0.43728	0.429	T	0.77867	-0.2428	10	0.62326	D	0.03	-28.3567	12.3171	0.54962	0.0:0.4719:0.0:0.5281	.	146	P31321	KAP1_HUMAN	S	146;146;146;146;146;146;91;146	ENSP00000440449:R146S;ENSP00000444487:R146S;ENSP00000385749:R146S;ENSP00000385349:R146S;ENSP00000353415:R146S;ENSP00000402648:R146S;ENSP00000394633:R91S;ENSP00000406670:R146S	ENSP00000353415:R146S	R	-	3	2	PRKAR1B	683394	0.988000	0.35896	0.994000	0.49952	0.307000	0.27823	0.133000	0.15912	-0.363000	0.08101	-0.345000	0.07892	AGG		0.642	PRKAR1B-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322525.1			13	106	0	0	0	1	0	13	106					G	716868	C	G	716868	3	3	160	1	0	0	0	0	1	0	0	0	12504	854	30	5	739	5	PRKAR1B	7	716868	Missense_Mutation	SNP	C	TCGA-G9-6354-01A-11D-A30X-08		716868	158421795	18	7718											
TRPA1	8989	broad.mit.edu	37	chr8	72973925	72973925	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccacgctaccagaataggaCgatatcatcagtttaacaat	15	10	6	10	2	2	1	2	0	0	1	3	3	3	2	2	1	2	2	2	1	6	5	rs377547475		TCGA-G9-6354-01A-11D-A30X-08	TCGA-G9-6354-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea8eed7-1e59-4888-b285-e5aa3d73cbd9	eba48f21-c778-4331-97c5-e28b88cc0627	g.chr8:72973925C>T	ENST00000262209.4	-	7	1086	c.879G>A	c.(877-879)tcG>tcA	p.S293S		NM_007332.2	NP_015628.2	O75762	TRPA1_HUMAN	transient receptor potential cation channel, subfamily A, member 1	293					calcium ion transmembrane transport (GO:0070588)|detection of chemical stimulus involved in sensory perception of pain (GO:0050968)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|response to cold (GO:0009409)|response to drug (GO:0042493)|response to hydrogen peroxide (GO:0042542)|response to pain (GO:0048265)|thermoception (GO:0050955)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|stereocilium bundle (GO:0032421)	calcium channel activity (GO:0005262)|channel activity (GO:0015267)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1)	98			Epithelial(68;0.223)		Menthol(DB00825)	CAGAATAGGACGATATCATCA	0.423																																						ENST00000262209.4																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1)	98						c.(877-879)tcG>tcA		transient receptor potential cation channel, subfamily A, member 1	Menthol(DB00825)	C		0,4406		0,0,2203	220	175	190		879	-9.9	0	8		190	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	TRPA1	NM_007332.2		0,2,6501	TT,TC,CC		0.0233,0.0,0.0154		293/1120	72973925	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	8989					integral to plasma membrane		g.chr8:72973925C>T	Y10601	CCDS34908.1	8q13	2013-01-10	2003-11-20	2003-11-20	ENSG00000104321	ENSG00000104321		"Voltage-gated ion channels / Transient receptor potential cation channels", "Ankyrin repeat domain containing"	497	protein-coding gene	gene with protein product		604775	"ankyrin-like with transmembrane domains 1"	ANKTM1		16382100	Standard	NM_007332		Approved		uc003xza.3	O75762	OTTHUMG00000164516	ENST00000262209.4:c.879G>A	8.37:g.72973925C>T							p.S293S	NM_007332.2	NP_015628.2	O75762	TRPA1_HUMAN	Epithelial(68;0.223)		7	1086	-			293					A6NIN6	Silent	SNP	ENST00000262209.4	37	c.879G>A	CCDS34908.1																																																																																				0.423	TRPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379079.2	NM_007332		9	58	0	0	0	1	0	9	58					T	72973925	C	T	72973925	2	4	160	1	0	0	0	0	0	0	0	1	16574	523	19	1		1	TRPA1	8	72973925	Silent	SNP	C	TCGA-G9-6354-01A-11D-A30X-08		72973925	73390097	19	7719											
ZFHX4	79776	broad.mit.edu	37	chr8	77766817	77766817	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgactggacaactgctgggcAgttccctcactcaaatgccc	9	9	9	14	0	2	1	2	1	0	0	3	2	3	2	2	2	3	3	2	2	2	1			TCGA-G9-6354-01A-11D-A30X-08	TCGA-G9-6354-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea8eed7-1e59-4888-b285-e5aa3d73cbd9	eba48f21-c778-4331-97c5-e28b88cc0627	g.chr8:77766817A>T	ENST00000521891.2	+	10	8108	c.7660A>T	c.(7660-7662)Agt>Tgt	p.S2554C	ZFHX4_ENST00000518282.1_Missense_Mutation_p.S2528C|ZFHX4_ENST00000455469.2_Missense_Mutation_p.S2509C|ZFHX4_ENST00000050961.6_Missense_Mutation_p.S2509C	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	2509					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			ACTGCTGGGCAGTTCCCTCAC	0.512										HNSCC(33;0.089)																												ENST00000521891.2																			0				NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432						c.(7660-7662)Agt>Tgt		zinc finger homeobox 4							92	91	91					8																	77766817		1959	4141	6100	SO:0001583	missense	79776					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:77766817A>T		CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"Homeoboxes / ZF class"	30939	protein-coding gene	gene with protein product		606940	"zinc finger homeodomain 4"			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.7660A>T	8.37:g.77766817A>T	ENSP00000430497:p.Ser2554Cys	HNSCC(33;0.089)				ZFHX4_ENST00000050961.6_Missense_Mutation_p.S2509C|ZFHX4_ENST00000455469.2_Missense_Mutation_p.S2509C|ZFHX4_ENST00000518282.1_Missense_Mutation_p.S2528C	p.S2554C	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.0895)		10	8108	+			2509					G3V138|Q18PS0|Q6ZN20	Missense_Mutation	SNP	ENST00000521891.2	37	c.7660A>T	CCDS47878.2	.	.	.	.	.	.	.	.	.	.	A	5.281	0.237246	0.10023	.	.	ENSG00000091656	ENST00000521891;ENST00000399468;ENST00000455469;ENST00000050961;ENST00000518282	T;T;T;T	0.51574	0.7;0.75;0.72;0.71	5.38	2.43	0.29744	.	0.601618	0.14731	U	0.301740	T	0.53578	0.1805	L	0.36672	1.1	0.31886	N	0.617799	D;D;P	0.64830	0.99;0.994;0.488	D;D;P	0.68765	0.913;0.96;0.451	T	0.58075	-0.7700	10	0.87932	D	0	.	7.675	0.28480	0.514:0.0:0.486:0.0	.	2509;2509;2554	Q86UP3;Q86UP3-4;G3V138	ZFHX4_HUMAN;.;.	C	2554;2538;2509;2509;2528	ENSP00000430497:S2554C;ENSP00000399605:S2509C;ENSP00000050961:S2509C;ENSP00000430848:S2528C	ENSP00000050961:S2509C	S	+	1	0	ZFHX4	77929372	1.000000	0.71417	0.080000	0.20451	0.137000	0.21094	3.591000	0.53986	0.299000	0.22661	-0.248000	0.11899	AGT		0.512	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	NM_024721		20	61	0	0	0	1	0	20	61					T	77766817	A	T	77766817	3	4	160	1	0	0	0	0	1	0	0	0	17632	188	7	5	7694	5	ZFHX4	8	77766817	Missense_Mutation	SNP	A	TCGA-G9-6354-01A-11D-A30X-08	4792892	77766817	68597205	20	7720											
TMEM2	23670	broad.mit.edu	37	chr9	74345121	74345121	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cctctgttcaataccatcttCcaaaaagaaacaatgaccta	16	10	3	12	0	3	2	1	1	2	1	4	2	4	2	4	0	2	1	4	0	7	4			TCGA-G9-6354-01A-11D-A30X-08	TCGA-G9-6354-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea8eed7-1e59-4888-b285-e5aa3d73cbd9	eba48f21-c778-4331-97c5-e28b88cc0627	g.chr9:74345121C>T	ENST00000377044.4	-	9	2361	c.1822G>A	c.(1822-1824)Gaa>Aaa	p.E608K	TMEM2_ENST00000377066.5_Missense_Mutation_p.E545K	NM_001135820.1|NM_013390.2	NP_001129292.1|NP_037522.1	Q9UHN6	TMEM2_HUMAN	transmembrane protein 2	608					multicellular organismal development (GO:0007275)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(15)|liver(1)|lung(19)|ovary(2)|prostate(5)|skin(1)|stomach(1)|urinary_tract(2)	56		all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255)		GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16)		ATACCATCTTCCAAAAAGAAA	0.403																																						ENST00000377044.4																			0				central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(15)|liver(1)|lung(19)|ovary(2)|prostate(5)|skin(1)|stomach(1)|urinary_tract(2)	56						c.(1822-1824)Gaa>Aaa		transmembrane protein 2							107	101	103					9																	74345121		2203	4300	6503	SO:0001583	missense	23670					integral to membrane		g.chr9:74345121C>T		CCDS6638.1, CCDS47979.1	9q21.13	2011-07-19			ENSG00000135048	ENSG00000135048			11869	protein-coding gene	gene with protein product		605835					Standard	NM_013390		Approved		uc011lsa.1	Q9UHN6	OTTHUMG00000020000	ENST00000377044.4:c.1822G>A	9.37:g.74345121C>T	ENSP00000366243:p.Glu608Lys					TMEM2_ENST00000377066.5_Missense_Mutation_p.E545K	p.E608K	NM_001135820.1|NM_013390.2	NP_001129292.1|NP_037522.1	Q9UHN6	TMEM2_HUMAN		GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16)	9	2361	-		all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255)	608					A6H8W9|B2RTQ6|Q5T838|Q5T839|Q5T840|Q5T841|Q8NBP6|Q9P2D5	Missense_Mutation	SNP	ENST00000377044.4	37	c.1822G>A	CCDS6638.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.104715	0.77096	.	.	ENSG00000135048	ENST00000377044;ENST00000377066	D;D	0.98835	-5.17;-5.17	5.63	5.63	0.86233	Pectin lyase fold/virulence factor (1);	0.045899	0.85682	D	0.000000	D	0.99067	0.9680	M	0.90759	3.145	0.80722	D	1	P;D	0.59357	0.697;0.985	B;P	0.54346	0.275;0.749	D	0.99694	1.1002	10	0.66056	D	0.02	.	19.6697	0.95907	0.0:1.0:0.0:0.0	.	608;545	Q9UHN6;Q9UHN6-2	TMEM2_HUMAN;.	K	608;545	ENSP00000366243:E608K;ENSP00000366266:E545K	ENSP00000366243:E608K	E	-	1	0	TMEM2	73534941	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.633000	0.67825	2.649000	0.89929	0.585000	0.79938	GAA		0.403	TMEM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052618.2	NM_013390		4	37	0	0	0	1	0	4	37					T	74345121	C	T	74345121	3	4	160	1	0	0	0	0	1	0	0	0	16118	864	30	3	2393	3	TMEM2	9	74345121	Missense_Mutation	SNP	C	TCGA-G9-6354-01A-11D-A30X-08		74345121	66868310	21	7721											
FAM21C	253725	broad.mit.edu	37	chr10	46238880	46238880	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	taccatatctcattgggtcaAagctgttcatggaacaagaa	14	11	8	8	0	3	1	3	0	1	1	4	2	3	2	1	2	3	2	1	2	6	4			TCGA-G9-6354-01A-11D-A30X-08	TCGA-G9-6354-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea8eed7-1e59-4888-b285-e5aa3d73cbd9	eba48f21-c778-4331-97c5-e28b88cc0627	g.chr10:46238880A>G	ENST00000336378.4	+	6	689	c.571A>G	c.(571-573)Aag>Gag	p.K191E	FAM21C_ENST00000374362.2_Missense_Mutation_p.K191E|FAM21C_ENST00000359860.4_Missense_Mutation_p.K135E|FAM21C_ENST00000540872.1_Missense_Mutation_p.K191E|FAM21C_ENST00000537517.1_Missense_Mutation_p.K191E	NM_015262.2	NP_056077.2	Q9Y4E1	FA21C_HUMAN	family with sequence similarity 21, member C	191	Glu-rich.				retrograde transport, endosome to Golgi (GO:0042147)	early endosome (GO:0005769)|endosome (GO:0005768)|plasma membrane (GO:0005886)|WASH complex (GO:0071203)				central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	28						CATTGGGTCAAAGCTGTTCAT	0.348																																						ENST00000336378.4																			0				central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	28						c.(571-573)Aag>Gag		family with sequence similarity 21, member C							99	97	98					10																	46238880		1237	3032	4269	SO:0001583	missense	253725							g.chr10:46238880A>G		CCDS44374.1, CCDS44374.2, CCDS53528.1, CCDS53529.1	10q11.22	2014-05-09			ENSG00000172661	ENSG00000172661			23414	protein-coding gene	gene with protein product		613631				20498093	Standard	NM_015262		Approved	Em:AC012044.3, KIAA0592	uc001jcu.3	Q9Y4E1	OTTHUMG00000018089	ENST00000336378.4:c.571A>G	10.37:g.46238880A>G	ENSP00000337541:p.Lys191Glu					FAM21C_ENST00000359860.4_Missense_Mutation_p.K135E|FAM21C_ENST00000537517.1_Missense_Mutation_p.K191E|FAM21C_ENST00000374362.2_Missense_Mutation_p.K191E|FAM21C_ENST00000540872.1_Missense_Mutation_p.K191E	p.K191E	NM_015262.2	NP_056077.2	A8K5W5	A8K5W5_HUMAN			6	689	+			191					B4DZQ6|B9EK53|F5H0J6|F5H871|Q5SQU4|Q5SQU5|Q7L521|Q9UG79	Missense_Mutation	SNP	ENST00000336378.4	37	c.571A>G		.	.	.	.	.	.	.	.	.	.	A	9.793	1.178328	0.21787	.	.	ENSG00000172661	ENST00000336378;ENST00000540872;ENST00000537517;ENST00000374362;ENST00000399588;ENST00000359860;ENST00000420848;ENST00000436993	.	.	.	3.69	2.43	0.29744	.	0.098369	0.64402	D	0.000001	T	0.51278	0.1665	L	0.59912	1.85	0.26366	N	0.976973	D;P;P;P	0.71674	0.998;0.57;0.57;0.708	D;B;B;B	0.78314	0.991;0.341;0.341;0.359	T	0.33879	-0.9851	9	0.19147	T	0.46	-20.164	7.3955	0.26934	0.6371:0.3629:0.0:0.0	.	191;191;191;136	F5H871;Q9Y4E1-4;Q9Y4E1;Q9Y4E1-3	.;.;FA21C_HUMAN;.	E	191;191;191;191;191;135;136;103	.	ENSP00000337541:K191E	K	+	1	0	FAM21C	45558886	0.998000	0.40836	0.994000	0.49952	0.468000	0.32798	3.829000	0.55760	1.668000	0.50843	0.455000	0.32223	AAG		0.348	FAM21C-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding				11	87	0	0	0	1	0	11	87					G	46238880	A	G	46238880	3	3	160	1	0	0	0	0	1	0	0	0	5542	15	1	4	593	4	FAM21C	10	46238880	Missense_Mutation	SNP	A	TCGA-G9-6354-01A-11D-A30X-08		46238880	89295867	22	7722											
SCD	6319	broad.mit.edu	37	chr10	102112212	102112212	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cttacaaagctcggctgcccCtacggctctttctgatcatt	7	13	7	14	2	3	1	1	1	2	0	4	1	3	1	2	2	4	3	2	2	3	4			TCGA-G9-6354-01A-11D-A30X-08	TCGA-G9-6354-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea8eed7-1e59-4888-b285-e5aa3d73cbd9	eba48f21-c778-4331-97c5-e28b88cc0627	g.chr10:102112212C>G	ENST00000370355.2	+	3	781	c.400C>G	c.(400-402)Cta>Gta	p.L134V		NM_005063.4	NP_005054.3	O00767	ACOD_HUMAN	stearoyl-CoA desaturase (delta-9-desaturase)	134					fatty acid biosynthetic process (GO:0006633)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	iron ion binding (GO:0005506)|stearoyl-CoA 9-desaturase activity (GO:0004768)			endometrium(1)|large_intestine(3)|lung(5)	9		Colorectal(252;0.0323)		Epithelial(162;1.97e-10)|all cancers(201;1.73e-08)		TCGGCTGCCCCTACGGCTCTT	0.517																																					Colon(67;260 1459 9574 11663)	ENST00000370355.2																			0				endometrium(1)|large_intestine(3)|lung(5)	9						c.(400-402)Cta>Gta		stearoyl-CoA desaturase (delta-9-desaturase)							146	141	142					10																	102112212		2203	4300	6503	SO:0001583	missense	6319				fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	iron ion binding|stearoyl-CoA 9-desaturase activity	g.chr10:102112212C>G	AF097514	CCDS7493.1	10q23-q24	2013-01-25			ENSG00000099194	ENSG00000099194	1.14.19.1	"Fatty acid desaturases"	10571	protein-coding gene	gene with protein product	"acyl-CoA desaturase", "fatty acid desaturase", "delta-9-desaturase"	604031	"stearoyl-CoA desaturase opposite strand"	SCDOS		7909540, 10229681	Standard	NM_005063		Approved	FADS5	uc001kqy.3	O00767	OTTHUMG00000018906	ENST00000370355.2:c.400C>G	10.37:g.102112212C>G	ENSP00000359380:p.Leu134Val						p.L134V	NM_005063.4	NP_005054.3	O00767	ACOD_HUMAN		Epithelial(162;1.97e-10)|all cancers(201;1.73e-08)	3	781	+		Colorectal(252;0.0323)	134					B2R5U0|D3DR68|Q16150|Q53GR9|Q5W037|Q5W038|Q6GSS4|Q96KF6|Q9BS07|Q9Y695	Missense_Mutation	SNP	ENST00000370355.2	37	c.400C>G	CCDS7493.1	.	.	.	.	.	.	.	.	.	.	C	18.59	3.656813	0.67586	.	.	ENSG00000099194	ENST00000423840;ENST00000370355	T	0.20738	2.05	5.24	5.24	0.73138	Fatty acid desaturase, type 1 (1);	0.000000	0.48286	D	0.000189	T	0.50103	0.1596	M	0.80847	2.515	0.58432	D	0.999992	D	0.63046	0.992	D	0.67900	0.954	T	0.55250	-0.8170	10	0.72032	D	0.01	-18.8221	18.8237	0.92108	0.0:1.0:0.0:0.0	.	134	O00767	ACOD_HUMAN	V	134	ENSP00000359380:L134V	ENSP00000359380:L134V	L	+	1	2	SCD	102102202	0.983000	0.35010	0.989000	0.46669	0.516000	0.34256	2.673000	0.46858	2.469000	0.83416	0.561000	0.74099	CTA		0.517	SCD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049857.2	NM_005063		21	173	0	0	0	1	0	21	173					G	102112212	C	G	102112212	3	3	160	1	0	0	0	0	1	0	0	0	13886	680	24	5	410	5	SCD	10	102112212	Missense_Mutation	SNP	C	TCGA-G9-6354-01A-11D-A30X-08	55873332	102112212	33422535	23	7723											
MUC6	4588	broad.mit.edu	37	chr11	1030952	1030952	+	Frame_Shift_Del	DEL	G	G	-																															agcccccttgcttacgtgctGggcctgccggacgtgggtgc																										TCGA-G9-6354-01A-11D-A30X-08	TCGA-G9-6354-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea8eed7-1e59-4888-b285-e5aa3d73cbd9	eba48f21-c778-4331-97c5-e28b88cc0627	g.chr11:1030952delG	ENST00000421673.2	-	6	729	c.679delC	c.(679-681)cagfs	p.Q227fs		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	227	VWFD 1. {ECO:0000255|PROSITE- ProRule:PRU00580}.				cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)	extracellular matrix structural constituent (GO:0005201)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CTTACGTGCTGGGCCTGCCGG	0.667																																						ENST00000421673.2																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						c.(679-681)agfs		mucin 6, oligomeric mucus/gel-forming							27	34	32					11																	1030952		1989	4147	6136	SO:0001589	frameshift_variant	4588				maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent	g.chr11:1030952delG	U97698, AY312160	CCDS44513.1	11p15.5	2008-02-05	2006-03-14		ENSG00000184956	ENSG00000184956		"Mucins"	7517	protein-coding gene	gene with protein product		158374	"mucin 6, gastric"			7680650	Standard	NM_005961		Approved		uc001lsw.2	Q6W4X9	OTTHUMG00000165140	ENST00000421673.2:c.679delC	11.37:g.1030952delG	ENSP00000406861:p.Gln227fs						p.Q227fs	NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	6	729	-		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	227			VWFD 1.		O15329|Q14394|Q2TUQ5|Q4L207|Q8N8I1|Q8NAK1	Frame_Shift_Del	DEL	ENST00000421673.2	37	c.679delC	CCDS44513.1																																																																																				0.667	MUC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382120.2	XM_290540		2	4						2	4	---	---	---	---	-	1030952	G	-	1030952	7	5	160	1	0	1	0	1	0	0	0	0	9980	1357	47	0	6752	0	MUC6	11	1030952	Frame_Shift_Del	DEL	G	TCGA-G9-6354-01A-11D-A30X-08		1030952	133975564	24	7724											
OR4C6	219432	broad.mit.edu	37	chr11	55433550	55433550	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaagaaactctggatgaaatGggaggctttggctgggaaat	13	9	15	4	0	1	2	0	1	1	1	1	6	1	5	0	5	1	2	0	5	4	1			TCGA-G9-6354-01A-11D-A30X-08	TCGA-G9-6354-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea8eed7-1e59-4888-b285-e5aa3d73cbd9	eba48f21-c778-4331-97c5-e28b88cc0627	g.chr11:55433550G>T	ENST00000314259.3	+	1	937	c.908G>T	c.(907-909)tGg>tTg	p.W303L		NM_001004704.1	NP_001004704.1	Q8NH72	OR4C6_HUMAN	olfactory receptor, family 4, subfamily C, member 6	303						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|lung(49)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	71						TGGATGAAATGGGAGGCTTTG	0.418																																						ENST00000314259.3																			0				breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|lung(49)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	71						c.(907-909)tGg>tTg		olfactory receptor, family 4, subfamily C, member 6							75	75	75					11																	55433550		2200	4296	6496	SO:0001583	missense	219432				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55433550G>T	CR593785	CCDS31506.1	11q11	2012-08-09			ENSG00000181903	ENSG00000181903		"GPCR / Class A : Olfactory receptors"	14743	protein-coding gene	gene with protein product							Standard	NM_001004704		Approved		uc010rik.2	Q8NH72	OTTHUMG00000166800	ENST00000314259.3:c.908G>T	11.37:g.55433550G>T	ENSP00000324769:p.Trp303Leu						p.W303L	NM_001004704.1	NP_001004704.1	Q8NH72	OR4C6_HUMAN			1	937	+			303					B2RP11|Q6IFD2	Missense_Mutation	SNP	ENST00000314259.3	37	c.908G>T	CCDS31506.1	.	.	.	.	.	.	.	.	.	.	G	2.273	-0.366559	0.05069	.	.	ENSG00000181903	ENST00000314259	T	0.34667	1.35	3.87	-5.38	0.02673	.	.	.	.	.	T	0.13798	0.0334	N	0.02315	-0.6	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.28996	-1.0026	9	0.39692	T	0.17	.	11.1034	0.48188	0.6722:0.0:0.3278:0.0	.	303	Q8NH72	OR4C6_HUMAN	L	303	ENSP00000324769:W303L	ENSP00000324769:W303L	W	+	2	0	OR4C6	55190126	0.014000	0.17966	0.000000	0.03702	0.157000	0.22087	0.046000	0.14035	-0.955000	0.03636	-0.468000	0.05107	TGG		0.418	OR4C6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391504.1	NM_001004704		5	41	1	0	4.096e-09	1	4.27804e-09	5	41					T	55433550	G	T	55433550	3	4	160	1	0	0	0	0	1	0	0	0	11052	1357	47	5	910	5	OR4C6	11	55433550	Missense_Mutation	SNP	G	TCGA-G9-6354-01A-11D-A30X-08	54402598	55433550	79572966	25	7725											
DTX4	23220	broad.mit.edu	37	chr11	58959580	58959580	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccctccccaggactgcaccAtctgtatggaacgcctcacg	8	8	8	17	2	2	0	1	0	1	0	4	2	4	2	5	2	2	2	5	2	2	1			TCGA-G9-6354-01A-11D-A30X-08	TCGA-G9-6354-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea8eed7-1e59-4888-b285-e5aa3d73cbd9	eba48f21-c778-4331-97c5-e28b88cc0627	g.chr11:58959580A>G	ENST00000227451.3	+	6	1335	c.1231A>G	c.(1231-1233)Atc>Gtc	p.I411V	DTX4_ENST00000531902.1_3'UTR|DTX4_ENST00000532982.1_Missense_Mutation_p.I305V	NM_015177.1	NP_055992.1	Q9Y2E6	DTX4_HUMAN	deltex 4, E3 ubiquitin ligase	411					innate immune response (GO:0045087)|Notch signaling pathway (GO:0007219)|positive regulation of type I interferon production (GO:0032481)|protein ubiquitination (GO:0016567)|regulation of type I interferon production (GO:0032479)	cytosol (GO:0005829)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	20		all_epithelial(135;0.125)				GGACTGCACCATCTGTATGGA	0.582																																						ENST00000227451.3																			0				central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	20						c.(1231-1233)Atc>Gtc		deltex homolog 4 (Drosophila)							52	53	53					11																	58959580		2020	4175	6195	SO:0001583	missense	23220				Notch signaling pathway	cytoplasm	zinc ion binding	g.chr11:58959580A>G	AB023154	CCDS44612.1	11q12.2	2014-01-28	2014-01-28		ENSG00000110042	ENSG00000110042		"RING-type (C3HC4) zinc fingers"	29151	protein-coding gene	gene with protein product			"deltex 4 homolog (Drosophila)", "deltex homolog 4 (Drosophila)"			10231032, 22388039	Standard	NM_015177		Approved	KIAA0937, RNF155	uc001nns.2	Q9Y2E6	OTTHUMG00000167336	ENST00000227451.3:c.1231A>G	11.37:g.58959580A>G	ENSP00000227451:p.Ile411Val					DTX4_ENST00000531902.1_3'UTR|DTX4_ENST00000532982.1_Missense_Mutation_p.I305V	p.I411V	NM_015177.1	NP_055992.1	Q9Y2E6	DTX4_HUMAN			6	1335	+		all_epithelial(135;0.125)	411					Q0VF38	Missense_Mutation	SNP	ENST00000227451.3	37	c.1231A>G	CCDS44612.1	.	.	.	.	.	.	.	.	.	.	A	28.1	4.891648	0.91889	.	.	ENSG00000110042	ENST00000532982;ENST00000227451	T;T	0.77098	-1.07;-1.07	5.81	5.81	0.92471	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);Zinc finger, C3HC4 RING-type (1);	0.000000	0.85682	D	0.000000	D	0.86020	0.5833	M	0.64170	1.965	0.58432	D	0.999998	D	0.63880	0.993	D	0.76071	0.987	D	0.85850	0.1403	10	0.45353	T	0.12	.	15.1405	0.72607	1.0:0.0:0.0:0.0	.	411	Q9Y2E6	DTX4_HUMAN	V	305;411	ENSP00000434055:I305V;ENSP00000227451:I411V	ENSP00000227451:I411V	I	+	1	0	DTX4	58716156	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.186000	0.94906	2.206000	0.71126	0.533000	0.62120	ATC		0.582	DTX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394228.1	XM_166213		7	49	0	0	0	1	0	7	49					G	58959580	A	G	58959580	3	3	160	1	0	0	0	0	1	0	0	0	4797	217	8	4	1253	4	DTX4	11	58959580	Missense_Mutation	SNP	A	TCGA-G9-6354-01A-11D-A30X-08	3526030	58959580	76046936	26	7726											
NUP107	57122	broad.mit.edu	37	chr12	69103089	69103089	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcacttgttcgacaaagtcaGgtatgactagaatttaaaat	15	13	7	6	1	2	2	2	1	0	1	3	3	2	2	0	1	0	2	0	1	6	6			TCGA-G9-6354-01A-11D-A30X-08	TCGA-G9-6354-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea8eed7-1e59-4888-b285-e5aa3d73cbd9	eba48f21-c778-4331-97c5-e28b88cc0627	g.chr12:69103089G>A	ENST00000229179.4	+	9	1133	c.801G>A	c.(799-801)caG>caA	p.Q267Q	NUP107_ENST00000378905.2_Splice_Site_p.Q116Q|NUP107_ENST00000539906.1_Splice_Site_p.Q238Q	NM_020401.2	NP_065134.1	P57740	NU107_HUMAN	nucleoporin 107kDa	267					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA export from nucleus (GO:0006406)|nuclear pore complex assembly (GO:0051292)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	centrosome (GO:0005813)|cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)|nuclear pore outer ring (GO:0031080)|nucleus (GO:0005634)	nucleocytoplasmic transporter activity (GO:0005487)|structural constituent of nuclear pore (GO:0017056)		NUP107/LGR5(2)	breast(3)|endometrium(4)|kidney(4)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(2)	39	Breast(13;6.25e-06)		Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00694)			GACAAAGTCAGGTATGACTAG	0.299																																						ENST00000229179.4																		NUP107/LGR5(2)	0				breast(3)|endometrium(4)|kidney(4)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(2)	39						c.e9+1		nucleoporin 107kDa							64	74	71					12																	69103089		2203	4297	6500	SO:0001630	splice_region_variant	57122				carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex	nucleocytoplasmic transporter activity|protein binding	g.chr12:69103089G>A	AK055629	CCDS8985.1	12q14	2004-03-19			ENSG00000111581	ENSG00000111581			29914	protein-coding gene	gene with protein product		607617				12552102, 12705868	Standard	XM_005269037		Approved	NUP84	uc001suf.3	P57740	OTTHUMG00000169265	ENST00000229179.4:c.801+1G>A	12.37:g.69103089G>A						NUP107_ENST00000539906.1_Splice_Site_p.Q238_splice|NUP107_ENST00000378905.2_Splice_Site_p.Q116_splice	p.Q267_splice	NM_020401.2	NP_065134.1	P57740	NU107_HUMAN	Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00694)		9	1133	+	Breast(13;6.25e-06)		267					B4DZ67|Q6PJE1	Splice_Site	SNP	ENST00000229179.4	37	c.801_splice	CCDS8985.1																																																																																				0.299	NUP107-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403195.1	NM_020401	Silent	6	59	0	0	0	1	0	6	59					A	69103089	G	A	69103089	5	1	160	1	0	0	0	0	0	0	1	0	10753	1014	35	3	835	3	NUP107	12	69103089	Splice_Site	SNP	G	TCGA-G9-6354-01A-11D-A30X-08		69103089	64748806	27	7727											
MYCBP2	23077	broad.mit.edu	37	chr13	77642776	77642776	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gggttagctgttgagccagaTattgccggccaacgttagag	9	10	14	8	2	0	3	0	1	0	2	0	3	0	3	3	2	4	4	3	2	4	5			TCGA-G9-6354-01A-11D-A30X-08	TCGA-G9-6354-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea8eed7-1e59-4888-b285-e5aa3d73cbd9	eba48f21-c778-4331-97c5-e28b88cc0627	g.chr13:77642776T>A	ENST00000544440.2	-	70	11998	c.11981A>T	c.(11980-11982)tAt>tTt	p.Y3994F	MYCBP2_ENST00000357337.6_Missense_Mutation_p.Y3994F|MYCBP2_ENST00000407578.2_Missense_Mutation_p.Y4032F					MYC binding protein 2, E3 ubiquitin protein ligase											NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		TTGAGCCAGATATTGCCGGCC	0.498																																						ENST00000407578.2																			0				NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118						c.(12094-12096)tAt>tTt		MYC binding protein 2, E3 ubiquitin protein ligase							157	131	140					13																	77642776		2203	4300	6503	SO:0001583	missense	23077				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding	g.chr13:77642776T>A	AB020723		13q22	2012-02-23	2012-02-23		ENSG00000005810	ENSG00000005810			23386	protein-coding gene	gene with protein product		610392	"MYC binding protein 2"			9689053, 15057823	Standard	NM_015057		Approved	PAM, KIAA0916, FLJ10106	uc021rks.1	O75592	OTTHUMG00000017105	ENST00000544440.2:c.11981A>T	13.37:g.77642776T>A	ENSP00000444596:p.Tyr3994Phe					MYCBP2_ENST00000357337.6_Missense_Mutation_p.Y3994F|MYCBP2_ENST00000544440.2_Missense_Mutation_p.Y3994F	p.Y4032F	NM_015057.4	NP_055872.4	O75592	MYCB2_HUMAN		GBM - Glioblastoma multiforme(99;0.109)	70	12361	-		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)	3994						Missense_Mutation	SNP	ENST00000544440.2	37	c.12095A>T		.	.	.	.	.	.	.	.	.	.	T	21.5	4.155404	0.78114	.	.	ENSG00000005810	ENST00000357337;ENST00000407578;ENST00000544440	T;T;T	0.68025	-0.3;-0.3;-0.3	6.06	6.06	0.98353	.	0.000000	0.85682	D	0.000000	T	0.80149	0.4570	M	0.68593	2.085	0.80722	D	1	P	0.52842	0.956	D	0.65010	0.931	T	0.81812	-0.0761	10	0.87932	D	0	.	16.6245	0.84952	0.0:0.0:0.0:1.0	.	3994	O75592	MYCB2_HUMAN	F	3994;4032;3994	ENSP00000349892:Y3994F;ENSP00000384288:Y4032F;ENSP00000444596:Y3994F	ENSP00000349892:Y3994F	Y	-	2	0	MYCBP2	76540777	1.000000	0.71417	0.999000	0.59377	0.742000	0.42306	7.698000	0.84413	2.323000	0.78572	0.528000	0.53228	TAT		0.498	MYCBP2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000045326.1	NM_015057		7	31	0	0	0	1	0	7	31					A	77642776	T	A	77642776	3	1	160	1	0	0	0	0	1	0	0	0	10018	1406	49	5	1997	5	MYCBP2	13	77642776	Missense_Mutation	SNP	T	TCGA-G9-6354-01A-11D-A30X-08		77642776	37527102	28	7728											
GMPR2	51292	broad.mit.edu	37	chr14	24702732	24702732	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cggaactcaaagcagacataCtctggggttcccatcattgc	11	9	9	12	1	3	1	2	0	1	1	4	2	4	2	1	3	4	2	1	3	3	3			TCGA-G9-6354-01A-11D-A30X-08	TCGA-G9-6354-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea8eed7-1e59-4888-b285-e5aa3d73cbd9	eba48f21-c778-4331-97c5-e28b88cc0627	g.chr14:24702732C>A	ENST00000355299.4	+	3	596	c.135C>A	c.(133-135)taC>taA	p.Y45*	GMPR2_ENST00000559104.1_Nonsense_Mutation_p.Y63*|GMPR2_ENST00000399440.2_Nonsense_Mutation_p.Y45*|GMPR2_ENST00000559836.1_Nonsense_Mutation_p.Y45*|GMPR2_ENST00000557854.1_Nonsense_Mutation_p.Y63*|NEDD8_ENST00000250495.5_5'Flank|GMPR2_ENST00000559910.1_Nonsense_Mutation_p.Y45*|GMPR2_ENST00000456667.3_Nonsense_Mutation_p.Y45*|NEDD8_ENST00000533242.1_5'Flank|GMPR2_ENST00000420554.2_Nonsense_Mutation_p.Y63*|GMPR2_ENST00000348719.7_Nonsense_Mutation_p.Y45*|NEDD8_ENST00000524927.1_5'Flank|NEDD8-MDP1_ENST00000534348.1_5'Flank|NEDD8-MDP1_ENST00000604306.1_5'Flank	NM_001002000.1	NP_001002000.1	Q9P2T1	GMPR2_HUMAN	guanosine monophosphate reductase 2	45					GMP metabolic process (GO:0046037)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine-containing compound salvage (GO:0043101)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|GMP reductase complex (GO:1902560)	GMP reductase activity (GO:0003920)|metal ion binding (GO:0046872)			large_intestine(4)|lung(3)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	12				GBM - Glioblastoma multiforme(265;0.0181)		AGCAGACATACTCTGGGGTTC	0.448																																						ENST00000557854.1																			0				large_intestine(4)|lung(3)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	12						c.(187-189)taC>taA		guanosine monophosphate reductase 2							96	97	96					14																	24702732		1980	4191	6171	SO:0001587	stop_gained	51292				nucleotide metabolic process|purine base metabolic process|purine-containing compound salvage	cytosol	GMP reductase activity|metal ion binding	g.chr14:24702732C>A		CCDS41935.1, CCDS45087.1, CCDS61419.1, CCDS73624.1	14q11.2	2006-11-24							4377	protein-coding gene	gene with protein product		610781					Standard	XM_005267742		Approved		uc001wnw.3	Q9P2T1		ENST00000355299.4:c.135C>A	14.37:g.24702732C>A	ENSP00000347449:p.Tyr45*					GMPR2_ENST00000559910.1_Nonsense_Mutation_p.Y45*|GMPR2_ENST00000559836.1_Nonsense_Mutation_p.Y45*|GMPR2_ENST00000355299.4_Nonsense_Mutation_p.Y45*|GMPR2_ENST00000348719.7_Nonsense_Mutation_p.Y45*|GMPR2_ENST00000559104.1_Nonsense_Mutation_p.Y63*|GMPR2_ENST00000456667.3_Nonsense_Mutation_p.Y45*|GMPR2_ENST00000420554.2_Nonsense_Mutation_p.Y63*|GMPR2_ENST00000399440.2_Nonsense_Mutation_p.Y45*	p.Y63*			Q9P2T1	GMPR2_HUMAN		GBM - Glioblastoma multiforme(265;0.0181)	2	466	+			45					D3DS66|Q567T0|Q6IAJ8|Q86T14	Nonsense_Mutation	SNP	ENST00000355299.4	37	c.189C>A	CCDS41935.1	.	.	.	.	.	.	.	.	.	.	C	26.2	4.715839	0.89112	.	.	ENSG00000100938	ENST00000355299;ENST00000421944;ENST00000420554;ENST00000399440;ENST00000348719;ENST00000456667	.	.	.	5.83	3.78	0.43462	.	0.059397	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-20.2222	7.9781	0.30166	0.0:0.7154:0.0:0.2846	.	.	.	.	X	45;45;63;45;45;45	.	ENSP00000334409:Y45X	Y	+	3	2	GMPR2	23772572	0.921000	0.31238	1.000000	0.80357	0.735000	0.41995	0.971000	0.29396	0.622000	0.30249	0.563000	0.77884	TAC		0.448	GMPR2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415821.2	NM_016576		14	50	1	0	4.14922e-12	1	4.43212e-12	14	50					A	24702732	C	A	24702732	4	1	160	1	0	0	0	0	0	1	0	0	6497	576	20	5	195	5	GMPR2	14	24702732	Nonsense_Mutation	SNP	C	TCGA-G9-6354-01A-11D-A30X-08		24702732	82646808	29	7729											
FAM169B	283777	broad.mit.edu	37	chr15	98995217	98995217	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggcagcaggtagcatgcaccGgtgccatcaccacacagtct	10	6	11	14	1	2	0	1	0	1	0	2	0	2	0	3	3	4	5	3	3	1	1	rs61734134		TCGA-G9-6354-01A-11D-A30X-08	TCGA-G9-6354-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea8eed7-1e59-4888-b285-e5aa3d73cbd9	eba48f21-c778-4331-97c5-e28b88cc0627	g.chr15:98995217G>A	ENST00000558256.1	-	5	456	c.207C>T	c.(205-207)acC>acT	p.T69T	FAM169B_ENST00000332908.4_Silent_p.T69T	NM_182562.2	NP_872368.2	Q8N8A8	F169B_HUMAN	family with sequence similarity 169, member B	69										large_intestine(3)|lung(3)|urinary_tract(1)	7						AGCATGCACCGGTGCCATCAC	0.587																																						ENST00000558256.1																			0				large_intestine(3)|lung(3)|urinary_tract(1)	7						c.(205-207)acC>acT		family with sequence similarity 169, member B		G		2,4192		0,2,2095	69	76	74		207	-9	0	15	dbSNP_129	74	0,8466		0,0,4233	no	coding-synonymous	FAM169B	NM_182562.2		0,2,6328	AA,AG,GG		0.0,0.0477,0.0158		69/193	98995217	2,12658	2097	4233	6330	SO:0001819	synonymous_variant	283777							g.chr15:98995217G>A		CCDS45360.1	15q26.3	2008-08-08			ENSG00000185087	ENSG00000185087			26835	protein-coding gene	gene with protein product							Standard	NM_182562		Approved	FLJ39743, KIAA0888L	uc002buk.1	Q8N8A8		ENST00000558256.1:c.207C>T	15.37:g.98995217G>A						FAM169B_ENST00000332908.4_Silent_p.T69T	p.T69T	NM_182562.2	NP_872368.2	Q8N8A8	F169B_HUMAN			5	456	-			69					B5MDL8	Silent	SNP	ENST00000558256.1	37	c.207C>T	CCDS45360.1																																																																																				0.587	FAM169B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415488.1	NM_182562		3	35	0	0	0	1	0	3	35					A	98995217	G	A	98995217	2	1	160	1	0	0	0	0	0	0	0	1	5488	1103	39	2		2	FAM169B	15	98995217	Silent	SNP	G	TCGA-G9-6354-01A-11D-A30X-08		98995217	3536175	30	7730											
C16orf58	64755	broad.mit.edu	37	chr16	31508234	31508234	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gagcctggtgcacggtcaggGcagcccgagtggccccacca	7	4	15	15	2	1	0	1	0	0	0	1	2	1	0	5	4	3	2	5	4	0	0			TCGA-G9-6354-01A-11D-A30X-08	TCGA-G9-6354-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea8eed7-1e59-4888-b285-e5aa3d73cbd9	eba48f21-c778-4331-97c5-e28b88cc0627	g.chr16:31508234G>A	ENST00000327237.2	-	6	677	c.638C>T	c.(637-639)gCc>gTc	p.A213V	C16orf58_ENST00000567994.1_Missense_Mutation_p.A168V|C16orf58_ENST00000570164.1_Missense_Mutation_p.A213V|C16orf58_ENST00000430477.2_Missense_Mutation_p.A71V			Q96GQ5	RUS1_HUMAN	chromosome 16 open reading frame 58	213						integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)	14						CACGGTCAGGGCAGCCCGAGT	0.632																																						ENST00000327237.2																			0				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)	14						c.(637-639)gCc>gTc		chromosome 16 open reading frame 58							41	32	35					16																	31508234		2197	4300	6497	SO:0001583	missense	64755					integral to membrane		g.chr16:31508234G>A	AK023930	CCDS10715.1	16p11.2	2013-03-04			ENSG00000140688	ENSG00000140688			25848	protein-coding gene	gene with protein product							Standard	NM_022744		Approved	FLJ13868	uc002eci.3	Q96GQ5	OTTHUMG00000132466	ENST00000327237.2:c.638C>T	16.37:g.31508234G>A	ENSP00000317579:p.Ala213Val					C16orf58_ENST00000430477.2_Missense_Mutation_p.A71V|C16orf58_ENST00000570164.1_Missense_Mutation_p.A213V|C16orf58_ENST00000567994.1_Missense_Mutation_p.A168V	p.A213V			Q96GQ5	CP058_HUMAN			6	677	-			213					Q53GL8|Q8NAJ4|Q9BVY3|Q9H887	Missense_Mutation	SNP	ENST00000327237.2	37	c.638C>T	CCDS10715.1	.	.	.	.	.	.	.	.	.	.	G	32	5.154252	0.94645	.	.	ENSG00000140688	ENST00000327237;ENST00000452223;ENST00000430477	T;T	0.48201	0.82;0.82	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	T	0.68412	0.2998	M	0.72576	2.205	0.80722	D	1	D;D	0.89917	1.0;0.997	D;D	0.83275	0.996;0.963	T	0.66329	-0.5951	10	0.41790	T	0.15	-3.1981	17.3922	0.87435	0.0:0.0:1.0:0.0	.	71;213	B4DJP2;Q96GQ5	.;CP058_HUMAN	V	213;167;71	ENSP00000317579:A213V;ENSP00000398074:A71V	ENSP00000317579:A213V	A	-	2	0	C16orf58	31415735	1.000000	0.71417	0.935000	0.37517	0.645000	0.38454	9.171000	0.94802	2.713000	0.92767	0.655000	0.94253	GCC		0.632	C16orf58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255629.2	NM_022744		6	6	0	0	0	1	0	6	6					A	31508234	G	A	31508234	3	1	160	1	0	0	0	0	1	0	0	0	1822	1203	42	3	800	3	C16orf58	16	31508234	Missense_Mutation	SNP	G	TCGA-G9-6354-01A-11D-A30X-08		31508234	58846519	31	7731											
ZNF19	7567	broad.mit.edu	37	chr16	71512203	71512203	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccccaagccatgtcccctcTctccaaaagtgagatcagtg	10	8	8	15	0	2	1	1	1	1	1	5	2	4	1	6	0	1	0	6	0	3	0			TCGA-G9-6354-01A-11D-A30X-08	TCGA-G9-6354-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea8eed7-1e59-4888-b285-e5aa3d73cbd9	eba48f21-c778-4331-97c5-e28b88cc0627	g.chr16:71512203T>C	ENST00000288177.5	-	5	457	c.202A>G	c.(202-204)Aga>Gga	p.R68G	ZNF19_ENST00000565100.2_5'UTR|AC010547.9_ENST00000561908.1_Missense_Mutation_p.R68G|ZNF19_ENST00000564230.1_Missense_Mutation_p.R68G|ZNF19_ENST00000567225.1_Missense_Mutation_p.R68G|ZNF19_ENST00000565637.1_Missense_Mutation_p.R26G	NM_006961.3	NP_008892.2	P17023	ZNF19_HUMAN	zinc finger protein 19	68	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(2)|endometrium(1)|kidney(2)|large_intestine(8)|lung(7)|prostate(1)|stomach(1)	22		Ovarian(137;0.00965)		BRCA - Breast invasive adenocarcinoma(221;0.0161)|Kidney(780;0.0598)		ATGTCCCCTCTCTCCAAAAGT	0.488																																						ENST00000561908.1																			0											c.(202-204)Aga>Gga									75	67	70					16																	71512203		2198	4300	6498	SO:0001583	missense	0							g.chr16:71512203T>C	X52343	CCDS10901.1	16q22	2013-01-08	2006-05-10		ENSG00000157429	ENSG00000157429		"Zinc fingers, C2H2-type", "-"	12981	protein-coding gene	gene with protein product		194525	"zinc finger protein 19 (KOX 12)"			1505991, 1946370	Standard	NM_006961		Approved	KOX12, MGC51021	uc002fam.1	P17023	OTTHUMG00000137593	ENST00000288177.5:c.202A>G	16.37:g.71512203T>C	ENSP00000288177:p.Arg68Gly					ZNF19_ENST00000565100.2_5'UTR|ZNF19_ENST00000288177.5_Missense_Mutation_p.R68G|ZNF19_ENST00000565637.1_Missense_Mutation_p.R26G|ZNF19_ENST00000564230.1_Missense_Mutation_p.R68G|ZNF19_ENST00000567225.1_Missense_Mutation_p.R68G	p.R68G							5	704	-								A8K895|Q86Y66|Q8NDE2|Q96M79|Q96NE5	Missense_Mutation	SNP	ENST00000288177.5	37	c.202A>G	CCDS10901.1	.	.	.	.	.	.	.	.	.	.	C	3.447	-0.112729	0.06881	.	.	ENSG00000157429	ENST00000288177	T	0.00776	5.71	2.9	-0.405	0.12392	Krueppel-associated box (3);	1.353350	0.05165	N	0.498482	T	0.00845	0.0028	L	0.28694	0.88	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.47898	-0.9081	10	0.38643	T	0.18	.	7.3478	0.26674	0.0:0.49:0.0:0.51	.	68	P17023	ZNF19_HUMAN	G	68	ENSP00000288177:R68G	ENSP00000288177:R68G	R	-	1	2	ZNF19	70069704	0.000000	0.05858	0.273000	0.24645	0.015000	0.08874	-2.114000	0.01329	-0.339000	0.08401	-0.128000	0.14901	AGA		0.488	ZNF19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268993.2	NM_006961		7	20	0	0	0	1	0	7	20					C	71512203	T	C	71512203	3	2	160	1	0	0	0	0	1	0	0	0	17752	1559	54	4	1182	4	ZNF19	16	71512203	Missense_Mutation	SNP	T	TCGA-G9-6354-01A-11D-A30X-08	40003969	71512203	18842550	32	7732											
SPNS3	201305	broad.mit.edu	37	chr17	4349448	4349448	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acctcttcgtgagggaccagCgcacccgcgtgctggctgtc	5	8	13	15	4	1	1	0	1	1	0	3	2	1	2	3	2	2	3	3	2	0	1	rs377491047		TCGA-G9-6354-01A-11D-A30X-08	TCGA-G9-6354-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea8eed7-1e59-4888-b285-e5aa3d73cbd9	eba48f21-c778-4331-97c5-e28b88cc0627	g.chr17:4349448C>T	ENST00000355530.2	+	4	788	c.508C>T	c.(508-510)Cgc>Tgc	p.R170C	SPNS3_ENST00000576069.1_3'UTR|SPNS3_ENST00000333476.2_Missense_Mutation_p.R43C	NM_182538.4	NP_872344.3	Q6ZMD2	SPNS3_HUMAN	spinster homolog 3 (Drosophila)	170					lipid transport (GO:0006869)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)				NS(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|skin(6)|stomach(2)	28						GAGGGACCAGCGCACCCGCGT	0.617																																						ENST00000355530.2																			0				NS(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|skin(6)|stomach(2)	28						c.(508-510)Cgc>Tgc		spinster homolog 3 (Drosophila)		C	CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	89	78	82		508	-1.9	1	17		82	1,8599	1.2+/-3.3	0,1,4299	no	missense	SPNS3	NM_182538.4	180	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	probably-damaging	170/513	4349448	2,13004	2203	4300	6503	SO:0001583	missense	201305				lipid transport|transmembrane transport	integral to membrane		g.chr17:4349448C>T		CCDS11045.1	17p13.2	2014-08-12			ENSG00000182557	ENSG00000182557			28433	protein-coding gene	gene with protein product		611701					Standard	NM_182538		Approved	MGC29671	uc002fxt.3	Q6ZMD2	OTTHUMG00000177737	ENST00000355530.2:c.508C>T	17.37:g.4349448C>T	ENSP00000347721:p.Arg170Cys					SPNS3_ENST00000576069.1_3'UTR|SPNS3_ENST00000333476.2_Missense_Mutation_p.R43C	p.R170C	NM_182538.4	NP_872344.3	Q6ZMD2	SPNS3_HUMAN			4	788	+			170					Q8IZ31	Missense_Mutation	SNP	ENST00000355530.2	37	c.508C>T	CCDS11045.1	.	.	.	.	.	.	.	.	.	.	C	14.13	2.444341	0.43429	2.27E-4	1.16E-4	ENSG00000182557	ENST00000355530;ENST00000333476	T;T	0.70282	-0.47;-0.47	4.71	-1.85	0.07784	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	D	0.82857	0.5128	M	0.91561	3.22	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.992;0.999	T	0.81320	-0.0986	10	0.87932	D	0	-21.9706	7.6171	0.28165	0.5252:0.3925:0.0:0.0823	.	43;170	Q6ZMD2-2;Q6ZMD2	.;SPNS3_HUMAN	C	170;43	ENSP00000347721:R170C;ENSP00000333207:R43C	ENSP00000333207:R43C	R	+	1	0	SPNS3	4296197	0.223000	0.23663	0.979000	0.43373	0.015000	0.08874	-0.087000	0.11215	-0.039000	0.13602	0.563000	0.77884	CGC		0.617	SPNS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438793.1	NM_182538		4	63	0	0	0	1	0	4	63					T	4349448	C	T	4349448	3	4	160	1	0	0	0	0	1	0	0	0	15075	768	27	1	522	1	SPNS3	17	4349448	Missense_Mutation	SNP	C	TCGA-G9-6354-01A-11D-A30X-08		4349448	76845762	33	7733											
GPS2	2874	broad.mit.edu	37	chr17	7217479	7217479	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgttagggtggtcaggtcaCtggagtgaaaggaagacagg	12	8	17	4	0	2	2	2	1	0	1	2	4	2	4	0	6	0	1	0	6	3	1			TCGA-G9-6354-01A-11D-A30X-08	TCGA-G9-6354-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea8eed7-1e59-4888-b285-e5aa3d73cbd9	eba48f21-c778-4331-97c5-e28b88cc0627	g.chr17:7217479C>T	ENST00000380728.2	-	5	618		c.e5-1		RP11-542C16.2_ENST00000575474.1_Splice_Site|GPS2_ENST00000391950.3_Splice_Site|GPS2_ENST00000389167.5_Splice_Site			Q13227	GPS2_HUMAN	G protein pathway suppressor 2						cell cycle (GO:0007049)|inactivation of MAPK activity (GO:0000188)|JNK cascade (GO:0007254)|negative regulation of JNK cascade (GO:0046329)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	GTPase inhibitor activity (GO:0005095)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(1)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(4)	24		Prostate(122;0.157)				GGTCAGGTCACTGGAGTGAAA	0.493																																						ENST00000575474.1																			0											c.e13-1									189	173	178					17																	7217479		2203	4300	6503	SO:0001630	splice_region_variant	0							g.chr17:7217479C>T	U28963	CCDS11100.1	17p13.1	2006-04-29			ENSG00000132522	ENSG00000132522			4550	protein-coding gene	gene with protein product		601935				8943324	Standard	NM_004489		Approved		uc002gfx.1	Q13227	OTTHUMG00000102198	ENST00000380728.2:c.318-1G>A	17.37:g.7217479C>T						GPS2_ENST00000389167.5_Splice_Site|GPS2_ENST00000380728.2_Splice_Site|GPS2_ENST00000391950.3_Splice_Site								13	1809	-								B4DXA1|Q6FHM8	Splice_Site	SNP	ENST00000380728.2	37		CCDS11100.1	.	.	.	.	.	.	.	.	.	.	C	17.01	3.280109	0.59758	.	.	ENSG00000132522	ENST00000391950;ENST00000380728;ENST00000389167;ENST00000315601	.	.	.	4.84	4.84	0.62591	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.2203	0.86955	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	GPS2	7158203	1.000000	0.71417	0.996000	0.52242	0.675000	0.39556	5.013000	0.64023	2.689000	0.91719	0.591000	0.81541	.		0.493	GPS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000220048.4	NM_004489	Intron	6	42	0	0	0	1	0	6	42					T	7217479	C	T	7217479	5	4	160	1	0	0	0	0	0	0	1	0	6733	579	20	3	694	3	GPS2	17	7217479	Splice_Site	SNP	C	TCGA-G9-6354-01A-11D-A30X-08	2868031	7217479	73977731	34	7734											
VN1R2	317701	broad.mit.edu	37	chr19	53762190	53762190	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gcctcttgagtgtcttccagGtgatcaccatcaaccctagg	8	11	9	13	0	4	2	2	2	2	0	5	2	5	2	4	2	1	0	4	2	2	3			TCGA-G9-6354-01A-11D-A30X-08	TCGA-G9-6354-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea8eed7-1e59-4888-b285-e5aa3d73cbd9	eba48f21-c778-4331-97c5-e28b88cc0627	g.chr19:53762190G>A	ENST00000341702.3	+	1	646	c.562G>A	c.(562-564)Gtg>Atg	p.V188M		NM_173856.2	NP_776255.2	Q8NFZ6	VN1R2_HUMAN	vomeronasal 1 receptor 2	188					response to pheromone (GO:0019236)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	pheromone receptor activity (GO:0016503)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(134;0.00301)		TGTCTTCCAGGTGATCACCAT	0.473																																						ENST00000341702.3																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	31						c.(562-564)Gtg>Atg		vomeronasal 1 receptor 2							44	44	44					19																	53762190		2203	4300	6503	SO:0001583	missense	317701				response to pheromone	integral to membrane|plasma membrane	pheromone receptor activity	g.chr19:53762190G>A	AF370359	CCDS12862.1	19q13.42	2012-08-22			ENSG00000196131	ENSG00000196131		"Vomeronasal receptors / Type 1", "GPCR / Unclassified : Vomeronasal receptors, type 1"	19872	protein-coding gene	gene with protein product						12123587	Standard	NM_173856		Approved	V1RL2	uc002qbi.2	Q8NFZ6		ENST00000341702.3:c.562G>A	19.37:g.53762190G>A	ENSP00000351244:p.Val188Met						p.V188M	NM_173856.2	NP_776255.2	Q8NFZ6	VN1R2_HUMAN		GBM - Glioblastoma multiforme(134;0.00301)	1	646	+			188					A1L411|Q8TDU4	Missense_Mutation	SNP	ENST00000341702.3	37	c.562G>A	CCDS12862.1	.	.	.	.	.	.	.	.	.	.	G	7.150	0.583508	0.13749	.	.	ENSG00000196131	ENST00000341702	T	0.37584	1.19	2.94	-5.47	0.02600	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.42765	0.1217	L	0.56769	1.78	0.09310	N	1	D	0.69078	0.997	D	0.70227	0.968	T	0.38950	-0.9637	9	0.66056	D	0.02	.	0.4982	0.00575	0.2911:0.1318:0.1778:0.3993	.	188	Q8NFZ6	VN1R2_HUMAN	M	188	ENSP00000351244:V188M	ENSP00000351244:V188M	V	+	1	0	VN1R2	58454002	0.109000	0.22037	0.001000	0.08648	0.006000	0.05464	-0.084000	0.11268	-1.099000	0.03034	-1.284000	0.01376	GTG		0.473	VN1R2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464285.1	NM_173856		5	23	0	0	0	1	0	5	23					A	53762190	G	A	53762190	3	1	160	1	0	0	0	0	1	0	0	0	17176	1261	44	3	564	3	VN1R2	19	53762190	Missense_Mutation	SNP	G	TCGA-G9-6354-01A-11D-A30X-08		53762190	5366793	35	7735											
EEF1A2	1917	broad.mit.edu	37	chr20	62126425	62126425	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctcgaactcgcccacgccCgccgccacgatcagcactgc	7	4	9	21	6	1	0	1	0	0	0	3	2	1	0	5	0	3	1	5	0	1	0	rs143957818		TCGA-G9-6354-01A-11D-A30X-08	TCGA-G9-6354-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea8eed7-1e59-4888-b285-e5aa3d73cbd9	eba48f21-c778-4331-97c5-e28b88cc0627	g.chr20:62126425C>T	ENST00000298049.7	-	3	424	c.354G>A	c.(352-354)gcG>gcA	p.A118A	EEF1A2_ENST00000217182.3_Silent_p.A118A			Q05639	EF1A2_HUMAN	eukaryotic translation elongation factor 1 alpha 2	118	tr-type G.				positive regulation of apoptotic process (GO:0043065)|response to inorganic substance (GO:0010035)	eukaryotic translation elongation factor 1 complex (GO:0005853)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|translation elongation factor activity (GO:0003746)|translation factor activity, nucleic acid binding (GO:0008135)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(14)|stomach(1)	20	all_cancers(38;9.45e-12)		BRCA - Breast invasive adenocarcinoma(10;1.22e-05)			CGCCCACGCCCGCCGCCACGA	0.711																																						ENST00000217182.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(14)|stomach(1)	20						c.(352-354)gcG>gcA		eukaryotic translation elongation factor 1 alpha 2		C		1,4399		0,1,2199	42	49	46		354	-7.8	0	20	dbSNP_134	46	0,8578		0,0,4289	no	coding-synonymous	EEF1A2	NM_001958.2		0,1,6488	TT,TC,CC		0.0,0.0227,0.0077		118/464	62126425	1,12977	2200	4289	6489	SO:0001819	synonymous_variant	1917					nucleus	GTP binding|GTPase activity|protein binding|translation elongation factor activity	g.chr20:62126425C>T	AF163763	CCDS13522.1	20q13.3	2010-06-03			ENSG00000101210	ENSG00000101210			3192	protein-coding gene	gene with protein product		602959	"statin-like", "statin"	STNL, STN		8354261, 8812466	Standard	NM_001958		Approved	EEF1AL, HS1	uc002yfe.2	Q05639	OTTHUMG00000033076	ENST00000298049.7:c.354G>A	20.37:g.62126425C>T						EEF1A2_ENST00000298049.7_Silent_p.A118A	p.A118A	NM_001958.3	NP_001949.1	Q05639	EF1A2_HUMAN	BRCA - Breast invasive adenocarcinoma(10;1.22e-05)		4	519	-	all_cancers(38;9.45e-12)		118					B5BUF3|E1P5J1|P54266|Q0VGC7	Silent	SNP	ENST00000298049.7	37	c.354G>A	CCDS13522.1																																																																																				0.711	EEF1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080495.1	NM_001958		18	117	0	0	0	1	0	18	117					T	62126425	C	T	62126425	2	4	160	1	0	0	0	0	0	0	0	1	4924	639	23	2		2	EEF1A2	20	62126425	Silent	SNP	C	TCGA-G9-6354-01A-11D-A30X-08		62126425	899095	36	7736											
P2RY8	286530	broad.mit.edu	37	chrX	1584460	1584460	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggcctcggagcgcacggacGtggtcctggcggagaagagg	7	4	19	11	6	0	2	0	0	0	2	2	5	1	4	2	7	1	1	2	7	1	0			TCGA-G9-6354-01A-11D-A30X-08	TCGA-G9-6354-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea8eed7-1e59-4888-b285-e5aa3d73cbd9	eba48f21-c778-4331-97c5-e28b88cc0627	g.chrX:1584460G>A	ENST00000381297.4	-	2	1202	c.992C>T	c.(991-993)aCg>aTg	p.T331M	P2RY8_ENST00000460672.1_5'Flank	NM_178129.4	NP_835230.1	Q86VZ1	P2RY8_HUMAN	purinergic receptor P2Y, G-protein coupled, 8	331						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled purinergic nucleotide receptor activity (GO:0045028)			endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)	23		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				GCGCACGGACGTGGTCCTGGC	0.701			T	CRLF2	"B-ALL, Downs associated ALL"																																	ENST00000381297.4				Dom	yes		"X,Y"	Xp22.3; Yp11.3	286530	T	"purinergic receptor P2Y, G-protein coupled, 8"			L	CRLF2		"B-ALL, Downs associated ALL"		0				endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)	23						c.(991-993)aCg>aTg		purinergic receptor P2Y, G-protein coupled, 8							46	54	52					X																	1584460		2203	4295	6498	SO:0001583	missense	286530					integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	g.chrX:1584460G>A	AA804531	CCDS14115.1	Xp22.33 and Yp11.3	2012-08-08			ENSG00000182162	ENSG00000182162		"Pseudoautosomal regions / PAR1", "Purinergic receptors", "GPCR / Class A : Purinergic receptors, P2Y"	15524	protein-coding gene	gene with protein product		300525				11004484	Standard	NM_178129		Approved	P2Y8	uc004cpz.2	Q86VZ1	OTTHUMG00000021060	ENST00000381297.4:c.992C>T	X.37:g.1584460G>A	ENSP00000370697:p.Thr331Met						p.T331M	NM_178129.4	NP_835230.1	Q86VZ1	P2RY8_HUMAN			2	1202	-		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)	331						Missense_Mutation	SNP	ENST00000381297.4	37	c.992C>T	CCDS14115.1	.	.	.	.	.	.	.	.	.	.	g	5.572	0.290411	0.10567	.	.	ENSG00000182162	ENST00000381297	T	0.63096	-0.02	2.73	1.54	0.23209	.	1.173220	0.06864	U	0.799724	T	0.40498	0.1119	N	0.08118	0	0.09310	N	1	B	0.14012	0.009	B	0.04013	0.001	T	0.26467	-1.0102	10	0.44086	T	0.13	.	6.1963	0.20552	0.8613:0.0:0.1387:0.0	.	331	Q86VZ1	P2RY8_HUMAN	M	331	ENSP00000370697:T331M	ENSP00000370697:T331M	T	-	2	0	P2RY8	1544460	0.961000	0.32948	0.001000	0.08648	0.421000	0.31385	2.068000	0.41471	0.007000	0.14760	0.279000	0.19357	ACG		0.701	P2RY8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055602.1	NM_178129		9	113	0	0	0	1	0	9	113					A	1584460	G	A	1584460	3	1	160	1	0	0	0	0	1	0	0	0	11355	1145	40	1	91	1	P2RY8	23	1584460	Missense_Mutation	SNP	G	TCGA-G9-6354-01A-11D-A30X-08		1584460	153686100	37	7737											
SHROOM4	57477	broad.mit.edu	37	chrX	50376383	50376383	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aataaatgcaaggatcatggActagagctccttgaacactg	15	9	9	8	0	1	2	1	1	0	1	2	4	2	4	1	2	3	2	1	2	6	3			TCGA-G9-6354-01A-11D-A30X-08	TCGA-G9-6354-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea8eed7-1e59-4888-b285-e5aa3d73cbd9	eba48f21-c778-4331-97c5-e28b88cc0627	g.chrX:50376383A>G	ENST00000289292.7	-	4	2973	c.2690T>C	c.(2689-2691)gTc>gCc	p.V897A	SHROOM4_ENST00000376020.2_Missense_Mutation_p.V897A|SHROOM4_ENST00000460112.3_Missense_Mutation_p.V781A			Q9ULL8	SHRM4_HUMAN	shroom family member 4	897	Cys-rich.				actin cytoskeleton organization (GO:0030036)|actin filament organization (GO:0007015)|brain development (GO:0007420)|cognition (GO:0050890)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|myosin II complex (GO:0016460)|stress fiber (GO:0001725)	actin filament binding (GO:0051015)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	52	Ovarian(276;0.236)					AGGATCATGGACTAGAGCTCC	0.453																																						ENST00000376020.2																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	52						c.(2689-2691)gTc>gCc		shroom family member 4							77	64	68					X																	50376383		2203	4300	6503	SO:0001583	missense	57477				actin filament organization|brain development|cell morphogenesis|cognition	apical plasma membrane|basal plasma membrane|internal side of plasma membrane|nucleus	actin filament binding	g.chrX:50376383A>G	AB033028	CCDS35277.1	Xp11.22	2008-02-05			ENSG00000158352	ENSG00000158352			29215	protein-coding gene	gene with protein product		300579				10574462, 16615870	Standard	NR_027121		Approved	KIAA1202	uc004dpe.2	Q9ULL8	OTTHUMG00000021521	ENST00000289292.7:c.2690T>C	X.37:g.50376383A>G	ENSP00000289292:p.Val897Ala					SHROOM4_ENST00000289292.7_Missense_Mutation_p.V897A|SHROOM4_ENST00000460112.3_Missense_Mutation_p.V781A	p.V897A	NM_020717.3	NP_065768.2	Q9ULL8	SHRM4_HUMAN			4	2715	-	Ovarian(276;0.236)		897			Cys-rich.		A7E2X9|D6RFW0|Q96LA0	Missense_Mutation	SNP	ENST00000289292.7	37	c.2690T>C	CCDS35277.1	.	.	.	.	.	.	.	.	.	.	A	6.938	0.542865	0.13250	.	.	ENSG00000158352	ENST00000289292;ENST00000376020;ENST00000460112	D;D;D	0.87809	-2.3;-2.3;-2.3	5.45	2.82	0.32997	.	0.436181	0.19372	N	0.115887	T	0.75803	0.3899	L	0.27053	0.805	0.09310	N	1	B	0.29037	0.231	B	0.25140	0.058	T	0.58014	-0.7711	10	0.12103	T	0.63	.	10.9649	0.47406	0.6945:0.3055:0.0:0.0	.	897	Q9ULL8	SHRM4_HUMAN	A	897;897;781	ENSP00000289292:V897A;ENSP00000365188:V897A;ENSP00000421450:V781A	ENSP00000289292:V897A	V	-	2	0	SHROOM4	50393123	0.136000	0.22515	0.276000	0.24689	0.910000	0.53928	0.942000	0.29017	0.671000	0.31185	0.345000	0.21793	GTC		0.453	SHROOM4-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056564.4	NM_020717		10	8	0	0	0	1	0	10	8					G	50376383	A	G	50376383	3	3	160	1	0	0	0	0	1	0	0	0	14296	275	10	4	1815	4	SHROOM4	23	50376383	Missense_Mutation	SNP	A	TCGA-G9-6354-01A-11D-A30X-08	48791923	50376383	104894177	38	7738											
NBPF1	55672	broad.mit.edu	37	chr1	16907266	16907266	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaatgtttacagcatcctgaCattcatcatgagaggattct	12	13	8	8	0	3	2	2	2	1	1	4	5	4	3	1	1	2	2	1	1	2	4			TCGA-G9-6356-01A-11D-1786-08	TCGA-G9-6356-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2bdbfc0-d13e-4d0f-904b-05c033a72b77	30010140-dae9-41fe-96c6-5af69e6bfef2	g.chr1:16907266C>T	ENST00000430580.2	-	16	2452	c.1565G>A	c.(1564-1566)tGt>tAt	p.C522Y	NBPF1_ENST00000432949.1_5'Flank	NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1	522	NBPF 2. {ECO:0000255|PROSITE- ProRule:PRU00647}.					cytoplasm (GO:0005737)									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		AGCATCCTGACATTCATCATG	0.443																																						ENST00000430580.2																			0											c.(1564-1566)tGt>tAt		neuroblastoma breakpoint family, member 1							831	849	843					1																	16907266		2202	4298	6500	SO:0001583	missense	55672					cytoplasm		g.chr1:16907266C>T	AB051480		1p36.13	2013-01-30			ENSG00000219481	ENSG00000219481		"neuroblastoma breakpoint family"	26088	protein-coding gene	gene with protein product		610501				11214970, 16079250	Standard	NM_017940		Approved	FLJ20719, KIAA1693	uc001ayw.4	Q3BBV0	OTTHUMG00000002487	ENST00000430580.2:c.1565G>A	1.37:g.16907266C>T	ENSP00000474456:p.Cys522Tyr						p.C522Y	NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)	16	2452	-			522			NBPF 2.		Q8N4E8|Q9C0H0	Missense_Mutation	SNP	ENST00000430580.2	37	c.1565G>A																																																																																					0.443	NBPF1-005	NOVEL	upstream_uORF|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000106436.3	NM_017940		33	1709	0	0	0	0.435327	0	33	1709					T	16907266	C	T	16907266	3	4	161	1	0	0	0	0	1	0	0	0	10192	478	17	3	1915	3	NBPF1	1	16907266	Missense_Mutation	SNP	C	TCGA-G9-6356-01A-11D-1786-08		16907266	232343355	1	7739											
TIE1	7075	broad.mit.edu	37	chr1	43783609	43783609	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggaacctgctagattttctgCggaaaagccgggtcctagag	10	9	13	9	2	1	2	0	0	1	2	2	4	2	4	3	3	4	1	3	3	5	4			TCGA-G9-6356-01A-11D-1786-08	TCGA-G9-6356-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2bdbfc0-d13e-4d0f-904b-05c033a72b77	56d3cf13-362a-4701-850e-bd8cf98ac9a4	g.chr1:43783609C>T	ENST00000372476.3	+	17	2867	c.2788C>T	c.(2788-2790)Cgg>Tgg	p.R930W	TIE1_ENST00000473014.1_3'UTR|TIE1_ENST00000433781.2_Missense_Mutation_p.R575W	NM_001253357.1|NM_005424.4	NP_001240286.1|NP_005415.1	P35590	TIE1_HUMAN	tyrosine kinase with immunoglobulin-like and EGF-like domains 1	930	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				angiogenesis (GO:0001525)|in utero embryonic development (GO:0001701)|mesoderm development (GO:0007498)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell migration (GO:0030336)|peptidyl-tyrosine phosphorylation (GO:0018108)|plasma membrane fusion (GO:0045026)|response to retinoic acid (GO:0032526)|signal transduction (GO:0007165)|vasculogenesis (GO:0001570)	integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.R930W(2)		breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	70	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				AGATTTTCTGCGGAAAAGCCG	0.527																																						ENST00000372476.3																			2	Substitution - Missense(2)	p.R930W(2)	prostate(2)	breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	70						c.(2788-2790)Cgg>Tgg		tyrosine kinase with immunoglobulin-like and EGF-like domains 1							196	210	205					1																	43783609		2203	4300	6503	SO:0001583	missense	7075				mesoderm development	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity	g.chr1:43783609C>T	BC038239	CCDS482.1	1p34-p33	2013-02-11	2004-12-13	2004-12-14	ENSG00000066056	ENSG00000066056	2.7.10.1	"Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	11809	protein-coding gene	gene with protein product		600222	"tyrosine kinase with immunoglobulin and epidermal growth factor homology domains 1"	TIE		1312667	Standard	NM_005424		Approved	JTK14	uc001ciu.3	P35590	OTTHUMG00000007282	ENST00000372476.3:c.2788C>T	1.37:g.43783609C>T	ENSP00000361554:p.Arg930Trp					TIE1_ENST00000473014.1_3'UTR|TIE1_ENST00000433781.2_Missense_Mutation_p.R575W	p.R930W	NM_001253357.1|NM_005424.4	NP_001240286.1|NP_005415.1	P35590	TIE1_HUMAN			17	2867	+	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)	930			Protein kinase.		B5A949|B5A950	Missense_Mutation	SNP	ENST00000372476.3	37	c.2788C>T	CCDS482.1	.	.	.	.	.	.	.	.	.	.	C	18.43	3.623112	0.66901	.	.	ENSG00000066056	ENST00000372476;ENST00000372475;ENST00000536913;ENST00000433781	D;D	0.84589	-1.87;-1.87	6.06	0.713	0.18173	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.205040	0.23809	N	0.044351	D	0.91758	0.7393	M	0.85197	2.74	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.90931	0.4790	10	0.87932	D	0	.	12.4715	0.55790	0.4527:0.4427:0.1046:0.0	.	885;575;930	B4DTW8;B4DKW0;P35590	.;.;TIE1_HUMAN	W	930;333;213;575	ENSP00000361554:R930W;ENSP00000411728:R575W	ENSP00000361553:R333W	R	+	1	2	TIE1	43556196	0.995000	0.38212	0.492000	0.27490	0.873000	0.50193	2.601000	0.46249	-0.106000	0.12110	0.655000	0.94253	CGG		0.527	TIE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019011.1	NM_005424		28	298	0	0	0	0.134883	0	28	298					T	43783609	C	T	43783609	3	4	161	1	0	0	0	0	1	0	0	0	15890	759	27	1	2854	1	TIE1	1	43783609	Missense_Mutation	SNP	C	TCGA-G9-6356-01A-11D-1786-08	26876343	43783609	205467012	2	7740											
ZNF678	339500	broad.mit.edu	37	chr1	227842075	227842075	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttcaagaccttttgccagagCaggatatgaaagatttatgc	13	12	9	7	0	1	4	1	1	0	3	1	5	1	5	2	1	3	1	2	1	4	6			TCGA-G9-6356-01A-11D-1786-08	TCGA-G9-6356-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2bdbfc0-d13e-4d0f-904b-05c033a72b77	56d3cf13-362a-4701-850e-bd8cf98ac9a4	g.chr1:227842075C>T	ENST00000343776.5	+	4	469	c.124C>T	c.(124-126)Cag>Tag	p.Q42*	ZNF678_ENST00000608949.1_Nonsense_Mutation_p.Q42*|ZNF678_ENST00000397097.3_Nonsense_Mutation_p.Q97*	NM_178549.3	NP_848644.2	Q5SXM1	ZN678_HUMAN	zinc finger protein 678	42					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.Q42*(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(7)|pancreas(1)|prostate(1)	24		Prostate(94;0.0885)				TTTGCCAGAGCAGGATATGAA	0.333																																						ENST00000343776.4																			1	Substitution - Nonsense(1)	p.Q42*(1)	prostate(1)	central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(7)|pancreas(1)|prostate(1)	24						c.(124-126)Cag>Tag		zinc finger protein 678							96	105	102					1																	227842075		2202	4299	6501	SO:0001587	stop_gained	339500				regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	g.chr1:227842075C>T	BC042500		1q42.13	2013-01-08			ENSG00000181450	ENSG00000181450		"Zinc fingers, C2H2-type", "-"	28652	protein-coding gene	gene with protein product	"hypothetical protein MGC42493"					12477932	Standard	NM_178549		Approved	MGC42493	uc021pjy.1	Q5SXM1	OTTHUMG00000037700	ENST00000343776.5:c.124C>T	1.37:g.227842075C>T	ENSP00000344828:p.Gln42*					ZNF678_ENST00000498759.1_Intron|ZNF678_ENST00000397097.3_Nonsense_Mutation_p.Q97*	p.Q42*			F5GXA7	F5GXA7_HUMAN			4	469	+		Prostate(94;0.0885)	97					Q8IVQ9	Nonsense_Mutation	SNP	ENST00000343776.5	37	c.124C>T		.	.	.	.	.	.	.	.	.	.	C	8.368	0.834578	0.16820	.	.	ENSG00000181450	ENST00000343776;ENST00000397097;ENST00000440339	.	.	.	1.5	1.5	0.22942	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.51188	T	0.08	.	6.0899	0.19989	0.0:0.6739:0.3261:0.0	.	.	.	.	X	42;97;97	.	ENSP00000344828:Q42X	Q	+	1	0	ZNF678	225908698	0.034000	0.19679	0.058000	0.19502	0.101000	0.19017	0.746000	0.26275	0.708000	0.31955	0.514000	0.50259	CAG		0.333	ZNF678-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000091976.2	NM_178549		11	134	0	0	0	0.105934	0	11	134					T	227842075	C	T	227842075	4	4	161	1	0	0	0	0	0	1	0	0	18082	711	25	3	303	3	ZNF678	1	227842075	Nonsense_Mutation	SNP	C	TCGA-G9-6356-01A-11D-1786-08	184058466	227842075	21408546	3	7741											
LPIN1	23175	broad.mit.edu	37	chr2	11943067	11943067	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	catcctccagtgatgaggagCgcgcagctgccaagccatca	10	6	11	14	2	1	2	1	2	0	0	3	3	3	3	4	1	4	2	4	1	1	0			TCGA-G9-6356-01A-11D-1786-08	TCGA-G9-6356-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2bdbfc0-d13e-4d0f-904b-05c033a72b77	56d3cf13-362a-4701-850e-bd8cf98ac9a4	g.chr2:11943067C>T	ENST00000256720.2	+	14	1906	c.1813C>T	c.(1813-1815)Cgc>Tgc	p.R605C	LPIN1_ENST00000425416.2_Missense_Mutation_p.R611C|LPIN1_ENST00000404113.2_Missense_Mutation_p.R106C|LPIN1_ENST00000449576.2_Missense_Mutation_p.R690C|LPIN1_ENST00000396099.1_Missense_Mutation_p.R647C|LPIN1_ENST00000396097.1_Missense_Mutation_p.R335C	NM_145693.2	NP_663731.1	Q14693	LPIN1_HUMAN	lipin 1	605					cellular lipid metabolic process (GO:0044255)|fatty acid catabolic process (GO:0009062)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid metabolic process (GO:0006644)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|triglyceride biosynthetic process (GO:0019432)|triglyceride mobilization (GO:0006642)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	phosphatidate phosphatase activity (GO:0008195)	p.R605C(1)		autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(15)|liver(1)|lung(10)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	45	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.11)|OV - Ovarian serous cystadenocarcinoma(76;0.173)		TGATGAGGAGCGCGCAGCTGC	0.498																																						ENST00000256720.2																			1	Substitution - Missense(1)	p.R605C(1)	prostate(1)	autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(15)|liver(1)|lung(10)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	45						c.(1813-1815)Cgc>Tgc		lipin 1							180	163	169					2																	11943067		2203	4300	6503	SO:0001583	missense	23175				fatty acid catabolic process|transcription, DNA-dependent|triglyceride biosynthetic process|triglyceride mobilization	cytosol|endoplasmic reticulum membrane	phosphatidate phosphatase activity	g.chr2:11943067C>T	D80010	CCDS1682.1, CCDS58699.1, CCDS58700.1, CCDS58701.1	2p25.1	2008-05-23			ENSG00000134324	ENSG00000134324			13345	protein-coding gene	gene with protein product		605518				11138012, 8724849, 16950137	Standard	NM_145693		Approved	KIAA0188	uc010yjm.3	Q14693	OTTHUMG00000119082	ENST00000256720.2:c.1813C>T	2.37:g.11943067C>T	ENSP00000256720:p.Arg605Cys					LPIN1_ENST00000396097.1_Missense_Mutation_p.R335C|LPIN1_ENST00000396099.1_Missense_Mutation_p.R647C|LPIN1_ENST00000449576.2_Missense_Mutation_p.R690C|LPIN1_ENST00000425416.2_Missense_Mutation_p.R611C|LPIN1_ENST00000404113.2_Missense_Mutation_p.R106C	p.R605C	NM_145693.2	NP_663731.1	Q14693	LPIN1_HUMAN		Epithelial(75;0.11)|OV - Ovarian serous cystadenocarcinoma(76;0.173)	14	1906	+	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		605					A8MU38|B4DET9|B4DGS4|B4DGZ6|B5MC18|B7Z858|D6W506|E7ESE7|F5GY24|Q53T25	Missense_Mutation	SNP	ENST00000256720.2	37	c.1813C>T	CCDS1682.1	.	.	.	.	.	.	.	.	.	.	C	15.07	2.723847	0.48728	.	.	ENSG00000134324	ENST00000449576;ENST00000396099;ENST00000425416;ENST00000256720;ENST00000396097;ENST00000404113;ENST00000454151	T;T;T;T;T;T;T	0.80909	-1.43;-1.42;-1.42;-1.42;-1.27;-0.42;0.5	4.69	3.75	0.43078	.	0.426017	0.27673	N	0.018326	T	0.73393	0.3581	N	0.19112	0.55	0.35483	D	0.798341	B;P;P	0.49559	0.41;0.925;0.84	B;P;B	0.46758	0.039;0.526;0.039	T	0.82244	-0.0553	10	0.56958	D	0.05	-21.0422	15.3509	0.74384	0.0:0.8602:0.1398:0.0	.	106;690;605	B4DET9;F5GY24;Q14693	.;.;LPIN1_HUMAN	C	690;647;611;605;335;106;132	ENSP00000397908:R690C;ENSP00000379406:R647C;ENSP00000401522:R611C;ENSP00000256720:R605C;ENSP00000379404:R335C;ENSP00000386120:R106C;ENSP00000413714:R132C	ENSP00000256720:R605C	R	+	1	0	LPIN1	11860518	0.995000	0.38212	0.938000	0.37757	0.331000	0.28603	3.478000	0.53158	2.310000	0.77875	0.561000	0.74099	CGC		0.498	LPIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239296.3	NM_145693		19	172	0	0	0	0.175082	0	19	172					T	11943067	C	T	11943067	3	4	161	1	0	0	0	0	1	0	0	0	8918	768	27	1	1863	1	LPIN1	2	11943067	Missense_Mutation	SNP	C	TCGA-G9-6356-01A-11D-1786-08		11943067	231256306	4	7742											
SNRNP27	11017	broad.mit.edu	37	chr2	70130361	70130361	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cctatgccataaatgtctctCagaagaggaagtacaggtat	14	10	9	8	0	2	2	1	0	1	2	3	3	2	3	2	2	2	2	2	2	7	4			TCGA-G9-6356-01A-11D-1786-08	TCGA-G9-6356-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2bdbfc0-d13e-4d0f-904b-05c033a72b77	56d3cf13-362a-4701-850e-bd8cf98ac9a4	g.chr2:70130361C>T	ENST00000244227.3	+	5	822	c.397C>T	c.(397-399)Cag>Tag	p.Q133*	AC019206.1_ENST00000599032.1_5'Flank|SNRNP27_ENST00000488986.1_3'UTR|SNRNP27_ENST00000409116.1_Intron	NM_006857.2	NP_006848.1	Q8WVK2	SNR27_HUMAN	small nuclear ribonucleoprotein 27kDa (U4/U6.U5)	133					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)	p.Q133*(1)		cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)	11						AAATGTCTCTCAGAAGAGGAA	0.328																																						ENST00000244227.3																			1	Substitution - Nonsense(1)	p.Q133*(1)	prostate(1)	cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)	11						c.(397-399)Cag>Tag		small nuclear ribonucleoprotein 27kDa (U4/U6.U5)							190	175	180					2																	70130361		2203	4300	6503	SO:0001587	stop_gained	11017				mRNA processing|RNA splicing	nucleus	nucleic acid binding	g.chr2:70130361C>T	X76302	CCDS33219.1	2p14	2011-10-11			ENSG00000124380	ENSG00000124380			30240	protein-coding gene	gene with protein product	"nucleic acid binding protein RY 1"					7931148	Standard	NM_006857		Approved	RY1	uc002sfw.3	Q8WVK2	OTTHUMG00000152689	ENST00000244227.3:c.397C>T	2.37:g.70130361C>T	ENSP00000244227:p.Gln133*					SNRNP27_ENST00000409116.1_Intron|SNRNP27_ENST00000488986.1_3'UTR	p.Q133*	NM_006857.2	NP_006848.1	Q8WVK2	SNR27_HUMAN			5	822	+			133					Q15410	Nonsense_Mutation	SNP	ENST00000244227.3	37	c.397C>T	CCDS33219.1	.	.	.	.	.	.	.	.	.	.	C	17.47	3.397334	0.62177	.	.	ENSG00000124380	ENST00000244227	.	.	.	4.72	4.72	0.59763	.	0.179024	0.49305	D	0.000160	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.2166	0.73270	0.0:1.0:0.0:0.0	.	.	.	.	X	133	.	ENSP00000244227:Q133X	Q	+	1	0	SNRNP27	69983865	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.320000	0.59203	2.436000	0.82500	0.462000	0.41574	CAG		0.328	SNRNP27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327369.1	NM_006857		10	117	0	0	0	0.080935	0	10	117					T	70130361	C	T	70130361	4	4	161	1	0	0	0	0	0	1	0	0	14854	827	29	3	415	3	SNRNP27	2	70130361	Nonsense_Mutation	SNP	C	TCGA-G9-6356-01A-11D-1786-08	58187294	70130361	173069012	5	7743											
TTC30A	92104	broad.mit.edu	37	chr2	178483090	178483090	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agcttgcaggcggaggacccGgctgtggtaggcggggttat	6	8	19	8	3	0	0	0	0	0	0	0	2	0	2	1	8	2	5	1	8	2	3			TCGA-G9-6356-01A-11D-1786-08	TCGA-G9-6356-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2bdbfc0-d13e-4d0f-904b-05c033a72b77	56d3cf13-362a-4701-850e-bd8cf98ac9a4	g.chr2:178483090G>A	ENST00000355689.5	-	1	604	c.340C>T	c.(340-342)Cgg>Tgg	p.R114W	AC073834.3_ENST00000357045.4_RNA	NM_152275.3	NP_689488.3	Q86WT1	TT30A_HUMAN	tetratricopeptide repeat domain 30A	114					cilium assembly (GO:0042384)|intraciliary transport (GO:0042073)	cilium (GO:0005929)|intraciliary transport particle B (GO:0030992)		p.R114W(1)		autonomic_ganglia(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	30			OV - Ovarian serous cystadenocarcinoma(117;0.000423)|Epithelial(96;0.00373)|all cancers(119;0.0169)			CGGAGGACCCGGCTGTGGTAG	0.642																																						ENST00000355689.4																			1	Substitution - Missense(1)	p.R114W(1)	prostate(1)	autonomic_ganglia(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						c.(340-342)Cgg>Tgg		tetratricopeptide repeat domain 30A							44	49	47					2																	178483090		2203	4300	6503	SO:0001583	missense	92104				cell projection organization	cilium	binding	g.chr2:178483090G>A	AK024008	CCDS2276.1	2q31.2	2013-01-11			ENSG00000197557	ENSG00000197557		"Tetratricopeptide (TTC) repeat domain containing"	25853	protein-coding gene	gene with protein product						12477932	Standard	NM_152275		Approved	FLJ13946	uc002ulo.3	Q86WT1	OTTHUMG00000132528	ENST00000355689.5:c.340C>T	2.37:g.178483090G>A	ENSP00000347915:p.Arg114Trp					AC073834.3_ENST00000357045.4_RNA	p.R114W	NM_152275.3	NP_689488.3	Q86WT1	TT30A_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.000423)|Epithelial(96;0.00373)|all cancers(119;0.0169)		1	604	-			114					A8K8N0|Q8IVP2	Missense_Mutation	SNP	ENST00000355689.5	37	c.340C>T	CCDS2276.1	.	.	.	.	.	.	.	.	.	.	G	18.70	3.680386	0.68042	.	.	ENSG00000197557	ENST00000355689	T	0.78595	-1.19	6.03	6.03	0.97812	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.235555	0.44483	D	0.000455	T	0.79335	0.4428	L	0.55990	1.75	0.43230	D	0.995123	D	0.67145	0.996	P	0.49528	0.614	T	0.81304	-0.0993	10	0.87932	D	0	.	14.4504	0.67382	0.0:0.0:0.8533:0.1467	.	114	Q86WT1	TT30A_HUMAN	W	114	ENSP00000347915:R114W	ENSP00000347915:R114W	R	-	1	2	TTC30A	178191336	0.997000	0.39634	0.990000	0.47175	0.986000	0.74619	3.232000	0.51302	2.868000	0.98415	0.555000	0.69702	CGG		0.642	TTC30A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255728.2	NM_152275		10	71	0	0	0	0.058154	0	10	71					A	178483090	G	A	178483090	3	1	161	1	0	0	0	0	1	0	0	0	16695	1115	39	2	1661	2	TTC30A	2	178483090	Missense_Mutation	SNP	G	TCGA-G9-6356-01A-11D-1786-08	108352729	178483090	64716283	6	7744											
SLC4A3	6508	broad.mit.edu	37	chr2	220502444	220502444	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cgaggaaccagcccaatacgGcactgctctcactcatcctc	10	7	7	17	2	2	0	2	0	1	0	5	2	3	1	3	2	4	2	3	2	3	1			TCGA-G9-6356-01A-11D-1786-08	TCGA-G9-6356-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2bdbfc0-d13e-4d0f-904b-05c033a72b77	56d3cf13-362a-4701-850e-bd8cf98ac9a4	g.chr2:220502444G>A	ENST00000358055.3	+	17	3189	c.2677G>A	c.(2677-2679)Gca>Aca	p.A893T	SLC4A3_ENST00000317151.3_Missense_Mutation_p.A893T|SLC4A3_ENST00000373760.2_Missense_Mutation_p.A893T|SLC4A3_ENST00000373762.3_Missense_Mutation_p.A920T|SLC4A3_ENST00000273063.6_Missense_Mutation_p.A920T			P48751	B3A3_HUMAN	solute carrier family 4 (anion exchanger), member 3	893	Membrane (anion exchange).				bicarbonate transport (GO:0015701)|ion transport (GO:0006811)|regulation of intracellular pH (GO:0051453)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)	p.A920T(1)		breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	51		Renal(207;0.0183)		Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GCCCAATACGGCACTGCTCTC	0.657																																						ENST00000358055.3																			1	Substitution - Missense(1)	p.A920T(1)	prostate(1)	breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	51						c.(2677-2679)Gca>Aca		solute carrier family 4 (anion exchanger), member 3							86	66	72					2																	220502444		2203	4300	6503	SO:0001583	missense	6508				bicarbonate transport	integral to plasma membrane|membrane fraction	inorganic anion exchanger activity	g.chr2:220502444G>A		CCDS2445.1, CCDS2446.1	2q35	2013-07-19	2013-07-19		ENSG00000114923	ENSG00000114923		"Solute carriers"	11029	protein-coding gene	gene with protein product	"Anion exchanger 3, neuronal"	106195	"solute carrier family 4, anion exchanger, member 3"			8001971	Standard	NM_005070		Approved	AE3, SLC2C	uc002vmo.4	P48751	OTTHUMG00000059238	ENST00000358055.3:c.2677G>A	2.37:g.220502444G>A	ENSP00000350756:p.Ala893Thr					SLC4A3_ENST00000273063.6_Missense_Mutation_p.A920T|SLC4A3_ENST00000373760.2_Missense_Mutation_p.A893T|SLC4A3_ENST00000373762.3_Missense_Mutation_p.A920T|SLC4A3_ENST00000317151.3_Missense_Mutation_p.A893T	p.A893T			P48751	B3A3_HUMAN		Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	17	3189	+		Renal(207;0.0183)	893			Membrane (anion exchange).		A6H8L2|A8K1Q9|B7ZVX6|B9EGD1|Q6YIQ9	Missense_Mutation	SNP	ENST00000358055.3	37	c.2677G>A	CCDS2445.1	.	.	.	.	.	.	.	.	.	.	G	27.2	4.811494	0.90707	.	.	ENSG00000114923	ENST00000358055;ENST00000373760;ENST00000273063;ENST00000373762;ENST00000356251;ENST00000317151	T;T;T;T;T	0.80480	-1.38;-1.38;-1.38;-1.38;-1.38	4.7	4.7	0.59300	Bicarbonate transporter, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.89860	0.6837	M	0.79343	2.45	0.80722	D	1	D;D;D	0.89917	0.987;1.0;1.0	D;D;D	0.97110	0.944;0.999;1.0	D	0.91097	0.4911	10	0.87932	D	0	.	18.258	0.90025	0.0:0.0:1.0:0.0	.	597;893;920	P48751-2;P48751;P48751-3	.;B3A3_HUMAN;.	T	893;893;920;920;153;893	ENSP00000350756:A893T;ENSP00000362865:A893T;ENSP00000273063:A920T;ENSP00000362867:A920T;ENSP00000314006:A893T	ENSP00000273063:A920T	A	+	1	0	SLC4A3	220210688	1.000000	0.71417	0.778000	0.31720	0.469000	0.32828	7.564000	0.82326	2.611000	0.88343	0.551000	0.68910	GCA		0.657	SLC4A3-009	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316472.1	NM_005070		3	56	0	0	0	0.150653	0	3	56					A	220502444	G	A	220502444	3	1	161	1	0	0	0	0	1	0	0	0	14655	1203	42	3	2820	3	SLC4A3	2	220502444	Missense_Mutation	SNP	G	TCGA-G9-6356-01A-11D-1786-08	42019354	220502444	22696929	7	7745											
ABCF3	55324	broad.mit.edu	37	chr3	183908945	183908945	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttgagaagttctcgccgccaAttctgcagctagatgaggtg	9	11	12	9	2	2	3	0	2	2	2	3	4	2	3	2	1	2	3	2	1	3	4	rs140615216		TCGA-G9-6356-01A-11D-1786-08	TCGA-G9-6356-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2bdbfc0-d13e-4d0f-904b-05c033a72b77	56d3cf13-362a-4701-850e-bd8cf98ac9a4	g.chr3:183908945A>C	ENST00000429586.2	+	16	1656	c.1471A>C	c.(1471-1473)Att>Ctt	p.I491L	ABCF3_ENST00000292808.5_Missense_Mutation_p.I485L|EIF2B5_ENST00000444495.1_Intron	NM_018358.2	NP_060828.2	Q9NUQ8	ABCF3_HUMAN	ATP-binding cassette, sub-family F (GCN20), member 3	491					defense response to virus (GO:0051607)	membrane (GO:0016020)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)	p.I491L(1)		breast(2)|cervix(1)|endometrium(2)|large_intestine(5)|lung(20)|ovary(3)|prostate(5)|upper_aerodigestive_tract(1)	39	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		Epithelial(37;2.35e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			CTCGCCGCCAATTCTGCAGCT	0.557																																						ENST00000429586.2																			1	Substitution - Missense(1)	p.I491L(1)	prostate(1)	breast(2)|cervix(1)|endometrium(2)|large_intestine(5)|lung(20)|ovary(3)|prostate(5)|upper_aerodigestive_tract(1)	39						c.(1471-1473)Att>Ctt		ATP-binding cassette, sub-family F (GCN20), member 3							160	150	153					3																	183908945		2203	4300	6503	SO:0001583	missense	55324						ATP binding|ATPase activity	g.chr3:183908945A>C	U66685	CCDS3254.1	3q27.1	2012-05-16			ENSG00000161204	ENSG00000161204		"ATP binding cassette transporters / subfamily F"	72	protein-coding gene	gene with protein product						8894702	Standard	NM_018358		Approved	EST201864	uc003fmz.2	Q9NUQ8	OTTHUMG00000156824	ENST00000429586.2:c.1471A>C	3.37:g.183908945A>C	ENSP00000411471:p.Ile491Leu					ABCF3_ENST00000292808.5_Missense_Mutation_p.I485L|EIF2B5_ENST00000444495.1_Intron	p.I491L	NM_018358.2	NP_060828.2	Q9NUQ8	ABCF3_HUMAN	Epithelial(37;2.35e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		16	1656	+	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		491					A8K241|Q86UA2|Q8NAN1|Q96GS8|Q9H7A8	Missense_Mutation	SNP	ENST00000429586.2	37	c.1471A>C	CCDS3254.1	.	.	.	.	.	.	.	.	.	.	A	13.94	2.386190	0.42308	.	.	ENSG00000161204	ENST00000429586;ENST00000292808	D;D	0.91521	-2.86;-2.86	5.74	0.507	0.16967	.	0.165681	0.52532	D	0.000065	T	0.78104	0.4231	N	0.11106	0.095	0.49299	D	0.999778	B;B	0.11235	0.004;0.001	B;B	0.15870	0.014;0.002	T	0.65274	-0.6208	10	0.30078	T	0.28	-7.5428	9.5878	0.39528	0.7082:0.0:0.2918:0.0	.	485;491	Q9NUQ8-2;Q9NUQ8	.;ABCF3_HUMAN	L	491;485	ENSP00000411471:I491L;ENSP00000292808:I485L	ENSP00000292808:I485L	I	+	1	0	ABCF3	185391639	0.566000	0.26618	0.131000	0.22000	0.996000	0.88848	1.404000	0.34623	0.364000	0.24374	0.533000	0.62120	ATT		0.557	ABCF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346047.1	NM_018358		8	119	0	0	0	0.047766	0	8	119					C	183908945	A	C	183908945	3	2	161	1	0	0	0	0	1	0	0	0	67	101	4	5	1533	5	ABCF3	3	183908945	Missense_Mutation	SNP	A	TCGA-G9-6356-01A-11D-1786-08		183908945	14113485	8	7746											
TBC1D9	23158	broad.mit.edu	37	chr4	141543453	141543453	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cctggccatcatgcacacggGcttgtcaaagtacttgacca	10	9	9	13	1	2	1	2	1	0	0	2	1	2	1	3	2	2	3	3	2	2	3			TCGA-G9-6356-01A-11D-1786-08	TCGA-G9-6356-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2bdbfc0-d13e-4d0f-904b-05c033a72b77	56d3cf13-362a-4701-850e-bd8cf98ac9a4	g.chr4:141543453G>T	ENST00000442267.2	-	21	3771	c.3697C>A	c.(3697-3699)Ccc>Acc	p.P1233T		NM_015130.2	NP_055945.2	Q6ZT07	TBCD9_HUMAN	TBC1 domain family, member 9 (with GRAM domain)	1233							calcium ion binding (GO:0005509)|Rab GTPase activator activity (GO:0005097)	p.P1233T(2)		endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	31	all_hematologic(180;0.162)	Medulloblastoma(177;0.00498)				ATGCACACGGGCTTGTCAAAG	0.592																																						ENST00000442267.2																			2	Substitution - Missense(2)	p.P1233T(2)	prostate(2)	endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	31						c.(3697-3699)Ccc>Acc		TBC1 domain family, member 9 (with GRAM domain)							58	61	60					4																	141543453		2054	4196	6250	SO:0001583	missense	23158					intracellular	calcium ion binding|Rab GTPase activator activity	g.chr4:141543453G>T	AB020689	CCDS47136.1	4q31.1	2013-01-10	2006-07-12		ENSG00000109436	ENSG00000109436		"EF-hand domain containing"	21710	protein-coding gene	gene with protein product			"TBC1 domain family, member 9"			12970790	Standard	NM_015130		Approved	KIAA0882, MDR1	uc010ioj.3	Q6ZT07	OTTHUMG00000161405	ENST00000442267.2:c.3697C>A	4.37:g.141543453G>T	ENSP00000411197:p.Pro1233Thr						p.P1233T	NM_015130.2	NP_055945.2	Q6ZT07	TBCD9_HUMAN			21	3771	-	all_hematologic(180;0.162)	Medulloblastoma(177;0.00498)	1233					A6H8U8|D3DNZ1|O94958	Missense_Mutation	SNP	ENST00000442267.2	37	c.3697C>A	CCDS47136.1	.	.	.	.	.	.	.	.	.	.	G	15.47	2.843497	0.51057	.	.	ENSG00000109436	ENST00000442267	T	0.09817	2.94	5.22	5.22	0.72569	.	0.000000	0.85682	D	0.000000	T	0.16471	0.0396	L	0.58810	1.83	0.80722	D	1	B	0.20780	0.048	B	0.22753	0.041	T	0.02450	-1.1157	10	0.66056	D	0.02	.	18.7997	0.92011	0.0:0.0:1.0:0.0	.	1233	Q6ZT07	TBCD9_HUMAN	T	1233	ENSP00000411197:P1233T	ENSP00000411197:P1233T	P	-	1	0	TBC1D9	141762903	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.843000	0.99491	2.430000	0.82344	0.655000	0.94253	CCC		0.592	TBC1D9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364806.1	NM_015130		9	53	1	0	0.00448238	0.047766	0.00510783	9	53					T	141543453	G	T	141543453	3	4	161	1	0	0	0	0	1	0	0	0	15624	1203	42	5	107	5	TBC1D9	4	141543453	Missense_Mutation	SNP	G	TCGA-G9-6356-01A-11D-1786-08		141543453	49610823	9	7747											
RXFP1	59350	broad.mit.edu	37	chr4	159567948	159567948	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctatgactcctctaggtgccGactgcttaatgggaatatat	10	13	9	9	1	1	1	0	1	1	0	2	3	2	2	2	2	2	1	2	2	6	5	rs372722673		TCGA-G9-6356-01A-11D-1786-08	TCGA-G9-6356-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2bdbfc0-d13e-4d0f-904b-05c033a72b77	56d3cf13-362a-4701-850e-bd8cf98ac9a4	g.chr4:159567948G>A	ENST00000307765.5	+	16	1602	c.1351G>A	c.(1351-1353)Gac>Aac	p.D451N	RXFP1_ENST00000470033.1_Missense_Mutation_p.D418N|RXFP1_ENST00000460056.2_Missense_Mutation_p.D370N|RXFP1_ENST00000448688.2_Missense_Mutation_p.D346N|RXFP1_ENST00000343542.5_Missense_Mutation_p.D403N	NM_001253727.1|NM_001253728.1|NM_001253730.1|NM_001253732.1|NM_001253733.1|NM_021634.3	NP_001240656.1|NP_001240657.1|NP_001240659.1|NP_001240661.1|NP_001240662.1|NP_067647.2	Q9HBX9	RXFP1_HUMAN	relaxin/insulin-like family peptide receptor 1	451					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cell differentiation (GO:0030154)|extracellular matrix organization (GO:0030198)|lung connective tissue development (GO:0060427)|nipple morphogenesis (GO:0060658)|parturition (GO:0007567)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|hormone binding (GO:0042562)|metal ion binding (GO:0046872)	p.D451N(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|liver(2)|lung(22)|prostate(1)|skin(10)	49	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.0219)		TCTAGGTGCCGACTGCTTAAT	0.348																																						ENST00000307765.5																			1	Substitution - Missense(1)	p.D451N(1)	prostate(1)	breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|liver(2)|lung(22)|prostate(1)|skin(10)	49						c.(1351-1353)Gac>Aac		relaxin/insulin-like family peptide receptor 1							121	109	113					4																	159567948		1837	4087	5924	SO:0001583	missense	59350					integral to membrane|plasma membrane	G-protein coupled receptor activity|metal ion binding	g.chr4:159567948G>A	AF190500	CCDS43276.1, CCDS58929.1, CCDS58930.1, CCDS75204.1, CCDS75205.1, CCDS75206.1	4q31.3	2012-08-08	2006-05-09	2006-05-09	ENSG00000171509	ENSG00000171509		"GPCR / Class A : Relaxin family peptide receptors"	19718	protein-coding gene	gene with protein product		606654	"leucine-rich repeat-containing G protein-coupled receptor 7"	LGR7		15956688, 16507880	Standard	NM_021634		Approved	RXFPR1	uc003ipz.3	Q9HBX9	OTTHUMG00000149973	ENST00000307765.5:c.1351G>A	4.37:g.159567948G>A	ENSP00000303248:p.Asp451Asn					RXFP1_ENST00000448688.2_Missense_Mutation_p.D346N|RXFP1_ENST00000343542.5_Missense_Mutation_p.D403N|RXFP1_ENST00000460056.2_Missense_Mutation_p.D370N|RXFP1_ENST00000470033.1_Missense_Mutation_p.D418N	p.D451N	NM_001253727.1|NM_001253728.1|NM_001253730.1|NM_001253732.1|NM_001253733.1|NM_021634.3	NP_001240656.1|NP_001240657.1|NP_001240659.1|NP_001240661.1|NP_001240662.1|NP_067647.2	Q9HBX9	RXFP1_HUMAN		COAD - Colon adenocarcinoma(41;0.0219)	16	1602	+	all_hematologic(180;0.24)	Renal(120;0.0854)	451					B4DHD1|B4DTV2|Q2M215|Q3KU24|Q3KU25|Q3KU26	Missense_Mutation	SNP	ENST00000307765.5	37	c.1351G>A	CCDS43276.1	.	.	.	.	.	.	.	.	.	.	G	36	5.604650	0.96626	.	.	ENSG00000171509	ENST00000460056;ENST00000307765;ENST00000448688;ENST00000343542;ENST00000470033;ENST00000440678	D;D;D;D;D	0.88431	-2.38;-2.38;-2.38;-2.38;-2.38	5.64	5.64	0.86602	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	D	0.95560	0.8557	M	0.88906	2.99	0.80722	D	1	D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D	0.97110	1.0;1.0;1.0;0.995;1.0;1.0;1.0;1.0	D	0.95159	0.8280	10	0.49607	T	0.09	.	19.7093	0.96085	0.0:0.0:1.0:0.0	.	462;478;346;403;418;370;321;451	B3KV27;B4DGP2;B4DHD1;Q9HBX9-4;Q9HBX9-2;E9PCA3;Q59H16;Q9HBX9	.;.;.;.;.;.;.;RXFP1_HUMAN	N	370;451;346;403;418;321	ENSP00000423306:D370N;ENSP00000303248:D451N;ENSP00000414885:D346N;ENSP00000345889:D403N;ENSP00000420712:D418N	ENSP00000303248:D451N	D	+	1	0	RXFP1	159787398	1.000000	0.71417	0.986000	0.45419	0.984000	0.73092	9.777000	0.99008	2.645000	0.89757	0.650000	0.86243	GAC		0.348	RXFP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314865.1	NM_021634		9	85	0	0	0	0.058154	0	9	85					A	159567948	G	A	159567948	3	1	161	1	0	0	0	0	1	0	0	0	13759	1058	37	2	1413	2	RXFP1	4	159567948	Missense_Mutation	SNP	G	TCGA-G9-6356-01A-11D-1786-08	18024495	159567948	31586328	10	7748											
CEP72	55722	broad.mit.edu	37	chr5	648008	648008	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gacaagatccaggagctcacGcagatgctgcaggagagcca	13	4	13	11	1	1	3	1	0	0	3	2	6	2	4	2	2	4	4	2	2	1	0	rs142569661		TCGA-G9-6356-01A-11D-1786-08	TCGA-G9-6356-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2bdbfc0-d13e-4d0f-904b-05c033a72b77	56d3cf13-362a-4701-850e-bd8cf98ac9a4	g.chr5:648008G>A	ENST00000264935.5	+	11	1845	c.1755G>A	c.(1753-1755)acG>acA	p.T585T	CEP72_ENST00000444221.1_3'UTR	NM_018140.3	NP_060610.2	Q9P209	CEP72_HUMAN	centrosomal protein 72kDa	585					G2/M transition of mitotic cell cycle (GO:0000086)|gamma-tubulin complex localization (GO:0033566)|mitotic cell cycle (GO:0000278)|spindle organization (GO:0007051)	centrosome (GO:0005813)|cytosol (GO:0005829)		p.T585T(1)		autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(5)|ovary(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2)	20			Epithelial(17;0.000339)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|Lung(60;0.0863)			AGGAGCTCACGCAGATGCTGC	0.602																																						ENST00000264935.5																			1	Substitution - coding silent(1)	p.T585T(1)	prostate(1)	autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(5)|ovary(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2)	20						c.(1753-1755)acG>acA		centrosomal protein 72kDa		G		0,4404		0,0,2202	50	47	48		1755	-9.1	0.2	5	dbSNP_134	48	1,8581	1.2+/-3.3	0,1,4290	no	coding-synonymous	CEP72	NM_018140.3		0,1,6492	AA,AG,GG		0.0117,0.0,0.0077		585/648	648008	1,12985	2202	4291	6493	SO:0001819	synonymous_variant	55722				G2/M transition of mitotic cell cycle|gamma-tubulin complex localization|spindle organization	centrosome|cytosol		g.chr5:648008G>A	BC000132	CCDS34126.1	5p15.33	2014-02-20			ENSG00000112877	ENSG00000112877			25547	protein-coding gene	gene with protein product						10819331	Standard	NM_018140		Approved	KIAA1519, FLJ10565	uc003jbf.3	Q9P209	OTTHUMG00000161745	ENST00000264935.5:c.1755G>A	5.37:g.648008G>A						CEP72_ENST00000444221.1_3'UTR	p.T585T	NM_018140.3	NP_060610.2	Q9P209	CEP72_HUMAN	Epithelial(17;0.000339)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|Lung(60;0.0863)		11	1845	+			585					B4DR26|Q9BV03|Q9BWM3|Q9NVR4	Silent	SNP	ENST00000264935.5	37	c.1755G>A	CCDS34126.1																																																																																				0.602	CEP72-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000365967.3	NM_018140		5	39	0	0	0	0.184627	0	5	39					A	648008	G	A	648008	2	1	161	1	0	0	0	0	0	0	0	1	3260	1074	38	1		1	CEP72	5	648008	Silent	SNP	G	TCGA-G9-6356-01A-11D-1786-08		648008	180267252	11	7749											
MSH3	4437	broad.mit.edu	37	chr5	79952234	79952234	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aaccttcccgatataggctaCagaaattgacagaagaaaga	18	7	8	8	1	0	5	0	1	0	4	1	6	1	5	2	1	2	1	2	1	7	5			TCGA-G9-6356-01A-11D-1786-08	TCGA-G9-6356-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2bdbfc0-d13e-4d0f-904b-05c033a72b77	56d3cf13-362a-4701-850e-bd8cf98ac9a4	g.chr5:79952234C>A	ENST00000265081.6	+	2	322	c.242C>A	c.(241-243)aCa>aAa	p.T81K	DHFR_ENST00000513048.1_5'Flank|DHFR_ENST00000439211.2_5'Flank|DHFR_ENST00000504396.1_5'Flank|DHFR_ENST00000505337.1_5'Flank|DHFR_ENST00000511032.1_5'Flank	NM_002439.4	NP_002430.3	P20585	MSH3_HUMAN	mutS homolog 3	81	Interaction with EXO1.				ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)|maintenance of DNA repeat elements (GO:0043570)|meiotic mismatch repair (GO:0000710)|mismatch repair (GO:0006298)|negative regulation of DNA recombination (GO:0045910)|positive regulation of helicase activity (GO:0051096)|reciprocal meiotic recombination (GO:0007131)|somatic recombination of immunoglobulin gene segments (GO:0016447)	membrane (GO:0016020)|MutSbeta complex (GO:0032302)|nuclear chromosome (GO:0000228)|nucleus (GO:0005634)	ATP binding (GO:0005524)|centromeric DNA binding (GO:0019237)|damaged DNA binding (GO:0003684)|DNA-dependent ATPase activity (GO:0008094)|double-strand/single-strand DNA junction binding (GO:0000406)|enzyme binding (GO:0019899)|heteroduplex DNA loop binding (GO:0000404)|Y-form DNA binding (GO:0000403)	p.T81K(1)|p.T72K(1)		NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	29		Lung NSC(167;0.00479)|all_lung(232;0.00507)|Ovarian(174;0.0261)|Breast(144;0.244)		OV - Ovarian serous cystadenocarcinoma(54;2.38e-45)|Epithelial(54;1.58e-38)|all cancers(79;4.93e-33)		ATATAGGCTACAGAAATTGAC	0.388								Mismatch excision repair (MMR)																													Melanoma(88;1010 1399 13793 26548 36275)	ENST00000265081.6																			2	Substitution - Missense(2)	p.T81K(1)|p.T72K(1)	prostate(2)	NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	29						c.(241-243)aCa>aAa	Mismatch excision repair (MMR)	mutS homolog 3							123	129	127					5																	79952234		2203	4300	6503	SO:0001583	missense	4437				maintenance of DNA repeat elements|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|somatic recombination of immunoglobulin gene segments	MutSbeta complex|nuclear chromosome	ATP binding|DNA-dependent ATPase activity|double-strand/single-strand DNA junction binding|enzyme binding|loop DNA binding|Y-form DNA binding	g.chr5:79952234C>A	U61981	CCDS34195.1	5q11-q12	2013-09-12	2013-09-12		ENSG00000113318	ENSG00000113318			7326	protein-coding gene	gene with protein product	"Divergent upstream protein", "Mismatch repair protein 1"	600887	"mutS (E. coli) homolog 3", "mutS homolog 3 (E. coli)"				Standard	NM_002439		Approved	DUP, MRP1	uc003kgz.4	P20585	OTTHUMG00000162540	ENST00000265081.6:c.242C>A	5.37:g.79952234C>A	ENSP00000265081:p.Thr81Lys						p.T81K	NM_002439.4	NP_002430.3	P20585	MSH3_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;2.38e-45)|Epithelial(54;1.58e-38)|all cancers(79;4.93e-33)	2	322	+		Lung NSC(167;0.00479)|all_lung(232;0.00507)|Ovarian(174;0.0261)|Breast(144;0.244)	81			Interaction with EXO1.		A1L480|A1L482|A6NMM6|Q6PJT5|Q86UQ6|Q92867	Missense_Mutation	SNP	ENST00000265081.6	37	c.242C>A	CCDS34195.1	.	.	.	.	.	.	.	.	.	.	C	6.044	0.376486	0.11466	.	.	ENSG00000113318	ENST00000265081;ENST00000535995	D	0.86497	-2.13	4.83	3.96	0.45880	.	1.366250	0.04763	N	0.426604	D	0.83073	0.5175	L	0.40543	1.245	0.09310	N	1	B	0.19817	0.039	B	0.16722	0.016	T	0.65944	-0.6045	9	.	.	.	0.0722	9.5204	0.39131	0.0:0.9004:0.0:0.0996	.	81	P20585	MSH3_HUMAN	K	81;72	ENSP00000265081:T81K	.	T	+	2	0	MSH3	79987990	0.001000	0.12720	0.001000	0.08648	0.003000	0.03518	1.251000	0.32862	1.153000	0.42468	0.563000	0.77884	ACA		0.388	MSH3-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369471.1	NM_002439		10	140	1	0	1.08611e-07	0.080935	1.3646e-07	10	140					A	79952234	C	A	79952234	3	1	161	1	0	0	0	0	1	0	0	0	9871	478	17	5	248	5	MSH3	5	79952234	Missense_Mutation	SNP	C	TCGA-G9-6356-01A-11D-1786-08	79304226	79952234	100963026	12	7750											
HLA-F	3134	broad.mit.edu	37	chr6	29694720	29694720	+	IGR	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gtcaagcttatttctcctggGggtgctcttccaaggatatt	7	15	10	9	0	3	0	1	0	2	0	5	1	4	1	2	3	2	2	2	3	4	5			TCGA-G9-6356-01A-11D-1786-08	TCGA-G9-6356-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2bdbfc0-d13e-4d0f-904b-05c033a72b77	56d3cf13-362a-4701-850e-bd8cf98ac9a4	g.chr6:29694720G>A	ENST00000376861.1	+	0	1544				HLA-F_ENST00000475996.1_Intron|HLA-F_ENST00000259951.7_Missense_Mutation_p.G366E|HLA-F_ENST00000440587.2_Missense_Mutation_p.G237E			P30511	HLAF_HUMAN	major histocompatibility complex, class I, F						antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|regulation of immune response (GO:0050776)|type I interferon signaling pathway (GO:0060337)	early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|membrane (GO:0016020)|MHC class I protein complex (GO:0042612)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)	peptide antigen binding (GO:0042605)|TAP1 binding (GO:0046978)|TAP2 binding (GO:0046979)	p.G366E(1)		cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	8						TTTCTCCTGGGGGTGCTCTTC	0.498																																						ENST00000440587.2																			1	Substitution - Missense(1)	p.G366E(1)	prostate(1)	cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	8						c.(709-711)gGg>gAg		major histocompatibility complex, class I, F							121	141	134					6																	29694720		1426	2661	4087	SO:0001628	intergenic_variant	3134				antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|regulation of immune response|type I interferon-mediated signaling pathway	integral to membrane|MHC class I protein complex	MHC class I receptor activity	g.chr6:29694720G>A	AY253269	CCDS43437.1, CCDS43438.1, CCDS43439.1	6p21.3	2013-01-11			ENSG00000204642	ENSG00000204642		"Histocompatibility complex", "Immunoglobulin superfamily / C1-set domain containing"	4963	protein-coding gene	gene with protein product		143110				1688605	Standard	NM_018950		Approved		uc003nno.4	P30511	OTTHUMG00000031156		6.37:g.29694720G>A						HLA-F_ENST00000259951.7_Missense_Mutation_p.G366E|HLA-F_ENST00000475996.1_Intron	p.G237E			P30511	HLAF_HUMAN			6	1069	+			0			Alpha-3.|Ig-like C1-type.		Q5JQI8|Q5JQJ1|Q5SPT5|Q860R0|Q8MGQ1|Q8WLP5|Q95HC0|Q9TP68	Missense_Mutation	SNP	ENST00000376861.1	37	c.710G>A	CCDS43438.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	10.02|10.02	1.237245|1.237245	0.22711|0.22711	.|.	.|.	ENSG00000204642|ENSG00000204642	ENST00000449921;ENST00000259951;ENST00000399258;ENST00000440587|ENST00000444621	T;T|.	0.01025|.	5.43;5.59|.	0.62|0.62	-0.344|-0.344	0.12628|0.12628	.|.	.|.	.|.	.|.	.|.	T|T	0.16685|0.16685	0.0401|0.0401	L|L	0.36672|0.36672	1.1|1.1	0.25609|0.25609	N|N	0.986519|0.986519	D;B|.	0.64830|.	0.994;0.068|.	D;B|.	0.65010|.	0.931;0.017|.	T|T	0.29610|0.29610	-1.0006|-1.0006	9|6	0.87932|0.87932	D|D	0|0	.|.	4.9559|4.9559	0.14038|0.14038	0.2561:0.0:0.7439:0.0|0.2561:0.0:0.7439:0.0	.|.	366;366|.	A8MVU7;P30511-3|.	.;.|.	E|R	343;366;280;237|48	ENSP00000259951:G366E;ENSP00000404130:G237E|.	ENSP00000259951:G366E|ENSP00000392251:G48R	G|G	+|+	2|1	0|0	HLA-F|HLA-F	29802699|29802699	1.000000|1.000000	0.71417|0.71417	0.427000|0.427000	0.26684|0.26684	0.030000|0.030000	0.12068|0.12068	4.802000|4.802000	0.62539|0.62539	-0.212000|-0.212000	0.10109|0.10109	-0.462000|-0.462000	0.05337|0.05337	GGG|GGG		0.498	HLA-F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195083.1	NM_018950		11	132	0	0	0	0.080935	0	11	132					A	29694720	G	A	29694720	1	1	161	0	1	0	0	0	0	0	0	0	7211	1232	43	3		3	HLA-F	6	29694720	IGR	SNP	G	TCGA-G9-6356-01A-11D-1786-08		29694720	141420347	13	7751											
C6orf204	387119	broad.mit.edu	37	chr6	118790443	118790443	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctgatccaataaagagcaTgtctcatctgtttgtctttg	9	15	7	10	0	3	2	1	1	3	1	5	2	4	2	2	0	1	2	2	0	3	3			TCGA-G9-6356-01A-11D-1786-08	TCGA-G9-6356-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2bdbfc0-d13e-4d0f-904b-05c033a72b77	56d3cf13-362a-4701-850e-bd8cf98ac9a4	g.chr6:118790443T>G	ENST00000368491.3	-	12	2667	c.2046A>C	c.(2044-2046)acA>acC	p.T682T	CEP85L_ENST00000368488.5_Silent_p.T685T	NM_001042475.2	NP_001035940.1	Q5SZL2	CE85L_HUMAN	centrosomal protein 85kDa-like	682						centrosome (GO:0005813)|cytoplasm (GO:0005737)		p.T682T(1)									ATAAAGAGCATGTCTCATCTG	0.413																																						ENST00000368491.3																			1	Substitution - coding silent(1)	p.T682T(1)	prostate(1)								c.(2044-2046)acA>acC		centrosomal protein 85kDa-like							149	138	142					6																	118790443		1876	4123	5999	SO:0001819	synonymous_variant	387119					centrosome		g.chr6:118790443T>G	AF308284	CCDS5119.2, CCDS43498.1, CCDS55052.1	6q22.31	2011-11-25	2011-11-25	2011-11-25	ENSG00000111860	ENSG00000111860			21638	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 204"	C6orf204			Standard	NM_206921		Approved	NY-BR-15, bA57K17.2	uc003pya.2	Q5SZL2	OTTHUMG00000015465	ENST00000368491.3:c.2046A>C	6.37:g.118790443T>G						CEP85L_ENST00000368488.5_Silent_p.T685T	p.T682T	NM_001042475.2	NP_001035940.1	Q5SZL2	CF204_HUMAN			12	2667	-			682					A1A4E1|A2A3P2|A2IDE5|F8W6J2|G3V0H3|Q2TAM2|Q5T323|Q7Z5K7|Q9H289	Silent	SNP	ENST00000368491.3	37	c.2046A>C	CCDS43498.1																																																																																				0.413	CEP85L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041996.2	NM_001042475		10	123	0	0	0	0.080935	0	10	123					G	118790443	T	G	118790443	2	3	161	1	0	0	0	0	0	0	0	1	2353	1451	51	5		5	C6orf204	6	118790443	Silent	SNP	T	TCGA-G9-6356-01A-11D-1786-08	89095723	118790443	52324624	14	7752											
PEG10	23089	broad.mit.edu	37	chr7	94293246	94293246	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcgtgacaagcatgatgacCggccgtgctgcccgttgggc	6	9	14	12	4	0	3	0	3	0	0	1	3	0	3	3	2	3	3	3	2	1	2			TCGA-G9-6356-01A-11D-1786-08	TCGA-G9-6356-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2bdbfc0-d13e-4d0f-904b-05c033a72b77	56d3cf13-362a-4701-850e-bd8cf98ac9a4	g.chr7:94293246C>T	ENST00000482108.1	+	2	857	c.378C>T	c.(376-378)acC>acT	p.T126T	PEG10_ENST00000488574.1_Silent_p.T126T	NM_001040152.1|NM_001172438.1|NM_001184962.1	NP_001035242.1|NP_001165909.1|NP_001171891.1	Q86TG7	PEG10_HUMAN	paternally expressed 10	126	Necessary for interaction with ALK1.				apoptotic process (GO:0006915)|cell differentiation (GO:0030154)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|placenta development (GO:0001890)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.T126T(1)		NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(9)|prostate(3)|skin(1)	21	all_cancers(62;8.26e-10)|all_epithelial(64;5.59e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		STAD - Stomach adenocarcinoma(171;0.0031)			GCATGATGACCGGCCGTGCTG	0.532																																						ENST00000482108.1																			1	Substitution - coding silent(1)	p.T126T(1)	prostate(1)	NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(9)|prostate(3)|skin(1)	21						c.(376-378)acC>acT		paternally expressed 10							80	85	83					7																	94293246		2046	4196	6242	SO:0001819	synonymous_variant	23089				apoptosis|cell differentiation|negative regulation of transforming growth factor beta receptor signaling pathway	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding	g.chr7:94293246C>T	AB049834	CCDS55126.1, CCDS75636.1, CCDS75637.1	7q21	2007-12-07			ENSG00000242265	ENSG00000242265			14005	protein-coding gene	gene with protein product		609810				11318613, 15716091, 16093683	Standard	NM_001172437		Approved	KIAA1051, HB-1, MEF3L, RGAG3, Mar2, Mart2	uc011kie.2	Q86TG7	OTTHUMG00000155578	ENST00000482108.1:c.378C>T	7.37:g.94293246C>T						PEG10_ENST00000488574.1_Silent_p.T126T	p.T126T	NM_001040152.1|NM_001172438.1|NM_001184962.1	NP_001035242.1|NP_001165909.1|NP_001171891.1	Q86TG7	PEG10_HUMAN	STAD - Stomach adenocarcinoma(171;0.0031)		2	857	+	all_cancers(62;8.26e-10)|all_epithelial(64;5.59e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		126			Necessary for interaction with ALK1.		Q96A68|Q9UPV1	Silent	SNP	ENST00000482108.1	37	c.378C>T	CCDS55126.1																																																																																				0.532	PEG10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340751.1	NM_015068		7	99	0	0	0	0.038147	0	7	99					T	94293246	C	T	94293246	2	4	161	1	0	0	0	0	0	0	0	1	11719	643	23	2		2	PEG10	7	94293246	Silent	SNP	C	TCGA-G9-6356-01A-11D-1786-08		94293246	64845417	15	7753											
ADAM28	10863	broad.mit.edu	37	chr8	24199261	24199261	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccaatggaactaagtgtggCgataacaaggtaagttgaaa	16	8	12	5	1	0	1	0	1	0	0	0	3	0	2	1	3	2	2	1	3	7	4	rs149263503	byFrequency	TCGA-G9-6356-01A-11D-1786-08	TCGA-G9-6356-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2bdbfc0-d13e-4d0f-904b-05c033a72b77	56d3cf13-362a-4701-850e-bd8cf98ac9a4	g.chr8:24199261C>T	ENST00000265769.4	+	16	1931	c.1821C>T	c.(1819-1821)ggC>ggT	p.G607G	RP11-624C23.1_ENST00000523700.1_RNA|RP11-624C23.1_ENST00000519689.1_RNA|RP11-624C23.1_ENST00000523578.1_RNA|RP11-624C23.1_ENST00000518988.1_RNA|ADAM28_ENST00000397649.3_Silent_p.G354G	NM_014265.4	NP_055080.2	Q9UKQ2	ADA28_HUMAN	ADAM metallopeptidase domain 28	607	Cys-rich.				spermatogenesis (GO:0007283)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.G607G(2)		central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Prostate(55;0.0959)		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)		CTAAGTGTGGCGATAACAAGG	0.408																																					NSCLC(193;488 2149 22258 34798 40734)	ENST00000265769.4																			2	Substitution - coding silent(2)	p.G607G(2)	prostate(2)	central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						c.(1819-1821)ggC>ggT		ADAM metallopeptidase domain 28		T		4,4402	8.1+/-20.4	0,4,2199	176	170	172		1821	-11.3	0	8	dbSNP_134	172	0,8600		0,0,4300	no	coding-synonymous	ADAM28	NM_014265.4		0,4,6499	TT,TC,CC		0.0,0.0908,0.0308		607/776	24199261	4,13002	2203	4300	6503	SO:0001819	synonymous_variant	10863				proteolysis|spermatogenesis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|zinc ion binding	g.chr8:24199261C>T	AJ242015	CCDS34865.1, CCDS47830.1	8p21.2	2005-11-29	2005-08-18		ENSG00000042980	ENSG00000042980		"ADAM metallopeptidase domain containing"	206	protein-coding gene	gene with protein product		606188	"a disintegrin and metalloproteinase domain 28"				Standard	XM_005273378		Approved	eMDCII, MDC-Lm, MDC-Ls, ADAM23	uc003xdy.3	Q9UKQ2	OTTHUMG00000163780	ENST00000265769.4:c.1821C>T	8.37:g.24199261C>T						RP11-624C23.1_ENST00000523700.1_RNA|RP11-624C23.1_ENST00000518988.1_RNA|ADAM28_ENST00000397649.3_Silent_p.G354G|RP11-624C23.1_ENST00000523578.1_RNA|RP11-624C23.1_ENST00000519689.1_RNA	p.G607G	NM_014265.4	NP_055080.2	Q9UKQ2	ADA28_HUMAN		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)	16	1931	+		Prostate(55;0.0959)	607			Cys-rich.		B2RMV5|Q9Y339|Q9Y3S0	Silent	SNP	ENST00000265769.4	37	c.1821C>T	CCDS34865.1	.	.	.	.	.	.	.	.	.	.	c	3.672	-0.067409	0.07273	9.08E-4	0.0	ENSG00000042980	ENST00000521629;ENST00000518326	.	.	.	5.83	-11.3	0.00108	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3085	0.00284	0.2618:0.1589:0.238:0.3413	.	.	.	.	X	240;33	.	.	R	+	1	2	ADAM28	24255206	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-1.125000	0.03257	-2.063000	0.00890	-1.885000	0.00541	CGA		0.408	ADAM28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375441.2	NM_021778		5	89	0	0	0	0.184627	0	5	89					T	24199261	C	T	24199261	2	4	161	1	0	0	0	0	0	0	0	1	246	755	27	1		1	ADAM28	8	24199261	Silent	SNP	C	TCGA-G9-6356-01A-11D-1786-08		24199261	122164761	16	7754											
OC90	729330	broad.mit.edu	37	chr8	133053386	133053386	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cggcctcctcatagcacctgCggtgctggaagcagcagctg	7	7	13	14	2	1	0	1	0	0	0	2	1	2	1	3	3	6	5	3	3	2	1	rs202030846		TCGA-G9-6356-01A-11D-1786-08	TCGA-G9-6356-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2bdbfc0-d13e-4d0f-904b-05c033a72b77	56d3cf13-362a-4701-850e-bd8cf98ac9a4	g.chr8:133053386C>T	ENST00000443356.2	-	6	448	c.362G>A	c.(361-363)cGc>cAc	p.R121H	OC90_ENST00000254627.3_Missense_Mutation_p.R121H|OC90_ENST00000603859.1_Missense_Mutation_p.R121H|OC90_ENST00000262283.5_Missense_Mutation_p.R317H			Q02509	OC90_HUMAN	otoconin 90	121	Phospholipase A2-like 1.				lipid catabolic process (GO:0016042)|phospholipid metabolic process (GO:0006644)	extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|phospholipase A2 activity (GO:0004623)	p.R317H(1)|p.R127H(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(23)|ovary(2)|prostate(1)|skin(1)	37	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000805)			ATAGCACCTGCGGTGCTGGAA	0.557													C|||	1	0.000199681	0	0	5008	,	,		17211	0		0.001	False		,,,				2504	0					ENST00000262283.5																			2	Substitution - Missense(2)	p.R317H(1)|p.R127H(1)	prostate(2)	NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(23)|ovary(2)|prostate(1)|skin(1)	37						c.(949-951)cGc>cAc		otoconin 90		C	HIS/ARG	2,3942		0,2,1970	82	83	83		362	5.6	1	8		83	6,8316		0,6,4155	yes	missense	OC90	NM_001080399.2	29	0,8,6125	TT,TC,CC		0.0721,0.0507,0.0652	probably-damaging	121/478	133053386	8,12258	1972	4161	6133	SO:0001583	missense	729330				lipid catabolic process|phospholipid metabolic process		calcium ion binding|phospholipase A2 activity	g.chr8:133053386C>T	Z14310	CCDS47919.1	8q24.22	2011-03-01			ENSG00000253117	ENSG00000253117			8100	protein-coding gene	gene with protein product		601658		PLA2L		10329003, 9860971	Standard	NM_001080399		Approved		uc011lix.1	Q02509	OTTHUMG00000164672	ENST00000443356.2:c.362G>A	8.37:g.133053386C>T	ENSP00000390050:p.Arg121His					OC90_ENST00000603859.1_Missense_Mutation_p.R121H|OC90_ENST00000443356.2_Missense_Mutation_p.R121H|OC90_ENST00000254627.3_Missense_Mutation_p.R121H	p.R317H			Q02509	OC90_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000805)		9	1049	-	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		121					B4DNG8	Missense_Mutation	SNP	ENST00000443356.2	37	c.950G>A		1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	26.2	4.713345	0.89112	5.07E-4	7.21E-4	ENSG00000253117;ENSG00000253117;ENSG00000258417	ENST00000254627;ENST00000443356;ENST00000262283	T;T;T	0.26660	1.72;1.72;1.72	5.61	5.61	0.85477	Phospholipase A2 (3);	0.075410	0.52532	D	0.000065	T	0.40297	0.1111	L	0.28014	0.82	0.37106	D	0.90011	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.31641	-0.9936	10	0.40728	T	0.16	-32.9909	18.6744	0.91524	0.0:1.0:0.0:0.0	.	121;121	Q02509-2;Q02509	.;OC90_HUMAN	H	121;121;317	ENSP00000254627:R121H;ENSP00000390050:R121H;ENSP00000262283:R317H	ENSP00000254627:R121H	R	-	2	0	RP11-240B13.2;OC90	133122568	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	5.457000	0.66672	2.669000	0.90835	0.585000	0.79938	CGC		0.557	OC90-201	KNOWN	basic	protein_coding	protein_coding		NM_001080399		5	94	0	0	0	0.021553	0	5	94					T	133053386	C	T	133053386	3	4	161	1	0	0	0	0	1	0	0	0	10814	768	27	1	1107	1	OC90	8	133053386	Missense_Mutation	SNP	C	TCGA-G9-6356-01A-11D-1786-08	108854125	133053386	13310636	17	7755											
LHX3	8022	broad.mit.edu	37	chr9	139091593	139091593	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccatgaggtagaactcgtCgcccgtggccagctgccgct	6	8	12	15	4	0	2	0	1	0	1	3	2	1	2	4	2	3	3	4	2	2	1	rs142521088		TCGA-G9-6356-01A-11D-1786-08	TCGA-G9-6356-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2bdbfc0-d13e-4d0f-904b-05c033a72b77	56d3cf13-362a-4701-850e-bd8cf98ac9a4	g.chr9:139091593C>A	ENST00000371748.5	-	3	481	c.385G>T	c.(385-387)Gac>Tac	p.D129Y	LHX3_ENST00000371746.3_Missense_Mutation_p.D134Y	NM_178138.4	NP_835258.1	Q9UBR4	LHX3_HUMAN	LIM homeobox 3	129	LIM zinc-binding 2. {ECO:0000255|PROSITE- ProRule:PRU00125}.				inner ear development (GO:0048839)|lung development (GO:0030324)|medial motor column neuron differentiation (GO:0021526)|motor neuron axon guidance (GO:0008045)|negative regulation of apoptotic process (GO:0043066)|organ morphogenesis (GO:0009887)|pituitary gland development (GO:0021983)|placenta development (GO:0001890)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|spinal cord association neuron differentiation (GO:0021527)|spinal cord motor neuron cell fate specification (GO:0021520)|ventral spinal cord interneuron specification (GO:0021521)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)	p.D134Y(1)		large_intestine(2)|lung(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	8		Myeloproliferative disorder(178;0.0511)		Epithelial(140;8.43e-08)|OV - Ovarian serous cystadenocarcinoma(145;1.26e-07)		TAGAACTCGTCGCCCGTGGCC	0.672																																						ENST00000371746.3																			1	Substitution - Missense(1)	p.D134Y(1)	prostate(1)	large_intestine(2)|lung(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	8						c.(400-402)Gac>Tac		LIM homeobox 3							30	29	30					9																	139091593		2198	4300	6498	SO:0001583	missense	8022				inner ear development|organ morphogenesis|positive regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr9:139091593C>A	AF096169	CCDS6994.1, CCDS6995.1	9q34.3	2011-06-20			ENSG00000107187	ENSG00000107187		"Homeoboxes / LIM class"	6595	protein-coding gene	gene with protein product		600577				10598593, 10717474	Standard	NM_178138		Approved		uc004cgz.3	Q9UBR4	OTTHUMG00000020924	ENST00000371748.5:c.385G>T	9.37:g.139091593C>A	ENSP00000360813:p.Asp129Tyr					LHX3_ENST00000371748.5_Missense_Mutation_p.D129Y	p.D134Y	NM_014564.3	NP_055379.1	Q9UBR4	LHX3_HUMAN		Epithelial(140;8.43e-08)|OV - Ovarian serous cystadenocarcinoma(145;1.26e-07)	3	518	-		Myeloproliferative disorder(178;0.0511)	129			LIM zinc-binding 2.		Q5TB39|Q5TB40|Q9NZB5|Q9P0I8|Q9P0I9	Missense_Mutation	SNP	ENST00000371748.5	37	c.400G>T	CCDS6994.1	.	.	.	.	.	.	.	.	.	.	C	25.5	4.647555	0.87958	.	.	ENSG00000107187	ENST00000371748;ENST00000371746;ENST00000325195	D;D	0.87650	-2.28;-2.28	4.35	4.35	0.52113	Zinc finger, LIM-type (4);	0.000000	0.85682	D	0.000000	D	0.95868	0.8655	H	0.97415	4	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.996	D	0.97549	1.0091	10	0.87932	D	0	.	16.0484	0.80735	0.0:1.0:0.0:0.0	.	129;134	Q9UBR4;F1T0D9	LHX3_HUMAN;.	Y	129;134;132	ENSP00000360813:D129Y;ENSP00000360811:D134Y	ENSP00000319224:D132Y	D	-	1	0	LHX3	138231414	1.000000	0.71417	0.956000	0.39512	0.806000	0.45545	7.314000	0.78988	2.256000	0.74724	0.561000	0.74099	GAC		0.672	LHX3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000055048.3			9	38	1	0	1.12685e-05	0.047766	1.34672e-05	9	38					A	139091593	C	A	139091593	3	1	161	1	0	0	0	0	1	0	0	0	8772	884	31	5	824	5	LHX3	9	139091593	Missense_Mutation	SNP	C	TCGA-G9-6356-01A-11D-1786-08		139091593	2121838	18	7756											
KRTAP5-4	387267	broad.mit.edu	37	chr11	1642884	1642884	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgacccacagcctgaagagAagcagcagggcttacagcag	14	4	12	11	0	0	3	0	2	0	1	0	4	0	3	2	1	5	4	2	1	3	1	rs6578597	byFrequency	TCGA-G9-6356-01A-11D-1786-08	TCGA-G9-6356-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2bdbfc0-d13e-4d0f-904b-05c033a72b77	56d3cf13-362a-4701-850e-bd8cf98ac9a4	g.chr11:1642884A>C	ENST00000399682.1	-	1	484	c.440T>G	c.(439-441)tTc>tGc	p.F147C		NM_001012709.1	NP_001012727	Q6L8H1	KRA54_HUMAN	keratin associated protein 5-4	0	9 X 4 AA repeats of C-C-X-P.					keratin filament (GO:0045095)		p.F147C(1)		NS(1)|endometrium(9)|kidney(2)|lung(2)|pancreas(1)|prostate(3)|skin(2)	20		all_epithelial(84;0.00819)|Breast(177;0.00832)|Ovarian(85;0.0256)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		GCCTGAAGAGAAGCAGCAGGG	0.632													N|||	3375	0.673922	0.7806	0.6138	5008	,	,		12630	0.5139		0.7087	False		,,,				2504	0.7014					ENST00000399682.1																			1	Substitution - Missense(1)	p.F147C(1)	prostate(1)	NS(1)|endometrium(9)|kidney(2)|lung(2)|pancreas(1)|prostate(3)|skin(2)	20						c.(439-441)tTc>tGc		keratin associated protein 5-4							20	33	29					11																	1642884		692	1590	2282	SO:0001583	missense	387267					keratin filament		g.chr11:1642884A>C	AB126073		11p15.5	2012-04-19			ENSG00000241598	ENSG00000241598		"Keratin associated proteins"	23599	protein-coding gene	gene with protein product						15144888	Standard	NM_001012709		Approved	KRTAP5.4	uc009ycy.1	Q6L8H1	OTTHUMG00000057553	ENST00000399682.1:c.440T>G	11.37:g.1642884A>C	ENSP00000382590:p.Phe147Cys						p.F147C	NM_001012709.1	NP_001012727.1	Q6L8H1	KRA54_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)	1	484	-		all_epithelial(84;0.00819)|Breast(177;0.00832)|Ovarian(85;0.0256)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)	207			9 X 4 AA repeats of C-C-X-P.			Missense_Mutation	SNP	ENST00000399682.1	37	c.440T>G		1439	0.6588827838827839	369	0.75	239	0.6602209944751382	301	0.5262237762237763	530	0.6992084432717678	C	3.154	-0.173521	0.06421	.	.	ENSG00000241598	ENST00000399682;ENST00000328953	T	0.00711	5.8	0.989	-1.98	0.07480	.	.	.	.	.	T	0.00012	0.0000	N	0.00009	-3.08	0.80722	P	0.0	.	.	.	.	.	.	T	0.46359	-0.9197	6	0.51188	T	0.08	.	0.8358	0.01140	0.1953:0.3766:0.1947:0.2334	rs6578597;rs58936235;rs6578597	.	.	.	C	147	ENSP00000382590:F147C	ENSP00000331603:F147C	F	-	2	0	KRTAP5-4	1599460	0.316000	0.24580	0.000000	0.03702	0.005000	0.04900	-0.265000	0.08644	-1.749000	0.01330	-0.349000	0.07799	TTC		0.632	KRTAP5-4-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000127918.1	NM_001012709		7	170	0	0	0	0.038147	0	7	170					C	1642884	A	C	1642884	3	2	161	1	0	0	0	0	1	0	0	0	8563	246	9	5	250	5	KRTAP5-4	11	1642884	Missense_Mutation	SNP	A	TCGA-G9-6356-01A-11D-1786-08		1642884	133363632	19	7757											
NTM	50863	broad.mit.edu	37	chr11	132081914	132081914	+	Splice_Site	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcattctgtcttgtttccacAgtatctcccaaaattgtaga	10	16	5	10	0	4	1	1	0	3	1	6	1	5	1	2	0	0	3	2	0	4	6			TCGA-G9-6356-01A-11D-1786-08	TCGA-G9-6356-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2bdbfc0-d13e-4d0f-904b-05c033a72b77	56d3cf13-362a-4701-850e-bd8cf98ac9a4	g.chr11:132081914A>C	ENST00000374786.1	+	3	879		c.e3-1		NTM_ENST00000474900.1_Splice_Site|NTM_ENST00000425719.2_Splice_Site|NTM_ENST00000539799.1_Splice_Site|NTM_ENST00000374791.3_Splice_Site|NTM_ENST00000374784.1_Splice_Site|NTM_ENST00000427481.2_Splice_Site	NM_001144058.1|NM_016522.2	NP_001137530.1|NP_057606.1	Q9P121	NTRI_HUMAN	neurotrimin						cell adhesion (GO:0007155)|neuron recognition (GO:0008038)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)		p.?(2)		breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(9)|lung(30)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	56						TTGTTTCCACAGTATCTCCCA	0.383																																						ENST00000374786.1																			2	Unknown(2)	p.?(2)	prostate(2)	breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(9)|lung(30)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	56						c.e3-1		neurotrimin							59	60	60					11																	132081914		2201	4297	6498	SO:0001630	splice_region_variant	50863				cell adhesion|neuron recognition	anchored to membrane|plasma membrane		g.chr11:132081914A>C	AF126426	CCDS8491.1, CCDS41733.1, CCDS44777.1, CCDS44778.1	11q25	2013-01-11			ENSG00000182667	ENSG00000182667		"Immunoglobulin superfamily / I-set domain containing"	17941	protein-coding gene	gene with protein product	"neurotrimin", "IgLON family member 2"	607938				7891157	Standard	NM_001048209		Approved	HNT, NTRI, IGLON2	uc001qgq.3	Q9P121	OTTHUMG00000066364	ENST00000374786.1:c.401-1A>C	11.37:g.132081914A>C						NTM_ENST00000374791.3_Splice_Site|NTM_ENST00000374784.1_Splice_Site|NTM_ENST00000427481.2_Splice_Site|NTM_ENST00000474900.1_Splice_Site|NTM_ENST00000539799.1_Splice_Site|NTM_ENST00000425719.2_Splice_Site		NM_001144058.1|NM_016522.2	NP_001137530.1|NP_057606.1	Q9P121	NTRI_HUMAN			3	879	+								A0MTT2|Q6UXJ3|Q86VJ9	Splice_Site	SNP	ENST00000374786.1	37		CCDS8491.1	.	.	.	.	.	.	.	.	.	.	A	20.2	3.954948	0.73902	.	.	ENSG00000182667	ENST00000374791;ENST00000539799;ENST00000550167;ENST00000427481;ENST00000374786;ENST00000425719;ENST00000374784	.	.	.	5.87	5.87	0.94306	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.5764	0.84681	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	NTM	131587124	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	8.420000	0.90256	2.371000	0.80710	0.533000	0.62120	.		0.383	NTM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000141937.1	NM_016522	Intron	4	35	0	0	0	0.150653	0	4	35					C	132081914	A	C	132081914	5	2	161	1	0	0	0	0	0	0	1	0	10699	202	7	5	495	5	NTM	11	132081914	Splice_Site	SNP	A	TCGA-G9-6356-01A-11D-1786-08	130439030	132081914	2924602	20	7758											
CHD4	1108	broad.mit.edu	37	chr12	6686950	6686950	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tattcctccccaaccgctcaCcttaaaccttcgagctagaa	11	10	4	16	2	1	1	1	0	0	1	4	2	3	1	6	0	3	2	6	0	6	5	rs529117126		TCGA-G9-6356-01A-11D-1786-08	TCGA-G9-6356-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2bdbfc0-d13e-4d0f-904b-05c033a72b77	56d3cf13-362a-4701-850e-bd8cf98ac9a4	g.chr12:6686950C>T	ENST00000357008.2	-	37	5525		c.e37+1		RP5-940J5.6_ENST00000501075.2_RNA|CHD4_ENST00000544040.1_Splice_Site|CHD4_ENST00000544484.1_Splice_Site|CHD4_ENST00000309577.6_Splice_Site	NM_001273.2	NP_001264.2	Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4						ATP-dependent chromatin remodeling (GO:0043044)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|spindle assembly (GO:0051225)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|NuRD complex (GO:0016581)|protein complex (GO:0043234)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|RNA polymerase II repressing transcription factor binding (GO:0001103)|zinc ion binding (GO:0008270)	p.?(3)		central_nervous_system(2)	2						CAACCGCTCACCTTAAACCTT	0.463																																					Colon(32;586 792 4568 16848 45314)	ENST00000309577.6																			3	Unknown(3)	p.?(3)	prostate(3)	central_nervous_system(2)	2						c.e36+1		chromodomain helicase DNA binding protein 4							103	102	102					12																	6686950		2203	4300	6503	SO:0001630	splice_region_variant	1108				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding	g.chr12:6686950C>T	X86691	CCDS8552.1	12p13	2013-01-28				ENSG00000111642		"Zinc fingers, PHD-type"	1919	protein-coding gene	gene with protein product		603277				7575689, 8843877	Standard	XM_006718958		Approved	Mi-2b, Mi2-BETA	uc001qpo.3	Q14839		ENST00000357008.2:c.5361+1G>A	12.37:g.6686950C>T						CHD4_ENST00000357008.2_Splice_Site|CHD4_ENST00000544484.1_Splice_Site|CHD4_ENST00000544040.1_Splice_Site				Q14839	CHD4_HUMAN			36	5609	-								Q8IXZ5	Splice_Site	SNP	ENST00000357008.2	37		CCDS8552.1	.	.	.	.	.	.	.	.	.	.	C	25.2	4.616076	0.87359	.	.	ENSG00000111642	ENST00000544484;ENST00000544040;ENST00000309577;ENST00000357008;ENST00000537464	.	.	.	5.51	5.51	0.81932	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.7859	0.96437	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CHD4	6557211	1.000000	0.71417	1.000000	0.80357	0.922000	0.55478	7.464000	0.80887	2.746000	0.94184	0.655000	0.94253	.		0.463	CHD4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001273	Intron	4	84	0	0	0	0.150653	0	4	84					T	6686950	C	T	6686950	5	4	161	1	0	0	0	0	0	0	1	0	3327	521	18	3	392	3	CHD4	12	6686950	Splice_Site	SNP	C	TCGA-G9-6356-01A-11D-1786-08		6686950	127164945	21	7759											
CHD4	1108	broad.mit.edu	37	chr12	6696651	6696651	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttcagtctcatcctggttacGgtctagcagccgttcaatgg	7	13	10	11	2	4	0	3	0	2	0	6	0	5	0	2	3	3	3	2	3	3	4			TCGA-G9-6356-01A-11D-1786-08	TCGA-G9-6356-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2bdbfc0-d13e-4d0f-904b-05c033a72b77	56d3cf13-362a-4701-850e-bd8cf98ac9a4	g.chr12:6696651G>A	ENST00000357008.2	-	25	3941	c.3778C>T	c.(3778-3780)Cgt>Tgt	p.R1260C	CHD4_ENST00000540960.1_5'UTR|RP5-940J5.6_ENST00000501075.2_RNA|CHD4_ENST00000544040.1_Missense_Mutation_p.R1253C|CHD4_ENST00000544484.1_Missense_Mutation_p.R1257C|CHD4_ENST00000309577.6_Missense_Mutation_p.R1260C	NM_001273.2	NP_001264.2	Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	1260					ATP-dependent chromatin remodeling (GO:0043044)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|spindle assembly (GO:0051225)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|NuRD complex (GO:0016581)|protein complex (GO:0043234)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|RNA polymerase II repressing transcription factor binding (GO:0001103)|zinc ion binding (GO:0008270)	p.R1260C(3)		central_nervous_system(2)	2						TCCTGGTTACGGTCTAGCAGC	0.458																																					Colon(32;586 792 4568 16848 45314)	ENST00000309577.6																			3	Substitution - Missense(3)	p.R1260C(3)	prostate(3)	central_nervous_system(2)	2						c.(3778-3780)Cgt>Tgt		chromodomain helicase DNA binding protein 4							218	185	196					12																	6696651		2203	4300	6503	SO:0001583	missense	1108				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding	g.chr12:6696651G>A	X86691	CCDS8552.1	12p13	2013-01-28				ENSG00000111642		"Zinc fingers, PHD-type"	1919	protein-coding gene	gene with protein product		603277				7575689, 8843877	Standard	XM_006718958		Approved	Mi-2b, Mi2-BETA	uc001qpo.3	Q14839		ENST00000357008.2:c.3778C>T	12.37:g.6696651G>A	ENSP00000349508:p.Arg1260Cys					CHD4_ENST00000357008.2_Missense_Mutation_p.R1260C|CHD4_ENST00000540960.1_5'UTR|CHD4_ENST00000544484.1_Missense_Mutation_p.R1257C|CHD4_ENST00000544040.1_Missense_Mutation_p.R1253C	p.R1260C			Q14839	CHD4_HUMAN			25	3941	-			1260					Q8IXZ5	Missense_Mutation	SNP	ENST00000357008.2	37	c.3778C>T	CCDS8552.1	.	.	.	.	.	.	.	.	.	.	G	17.70	3.455446	0.63401	.	.	ENSG00000111642	ENST00000544484;ENST00000544040;ENST00000309577;ENST00000357008;ENST00000537464	D;D;D;D	0.92858	-3.03;-3.12;-3.03;-3.11	5.79	5.79	0.91817	.	0.000000	0.85682	D	0.000000	D	0.97461	0.9169	H	0.94462	3.54	0.80722	D	1	D;D;D	0.89917	0.999;0.995;1.0	P;P;D	0.83275	0.885;0.726;0.996	D	0.97965	1.0340	10	0.87932	D	0	-5.2414	20.0212	0.97504	0.0:0.0:1.0:0.0	.	1260;1260;1253	Q14839-2;Q14839;F5GWX5	.;CHD4_HUMAN;.	C	1257;1253;1260;1260;1234	ENSP00000440392:R1257C;ENSP00000440542:R1253C;ENSP00000312419:R1260C;ENSP00000349508:R1260C	ENSP00000312419:R1260C	R	-	1	0	CHD4	6566912	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	5.951000	0.70273	2.735000	0.93741	0.561000	0.74099	CGT		0.458	CHD4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001273		22	150	0	0	0	0.076483	0	22	150					A	6696651	G	A	6696651	3	1	161	1	0	0	0	0	1	0	0	0	3327	1116	39	2	2024	2	CHD4	12	6696651	Missense_Mutation	SNP	G	TCGA-G9-6356-01A-11D-1786-08	9701	6696651	127155244	22	7760											
PLEKHA5	54477	broad.mit.edu	37	chr12	19511256	19511256	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatggaaagaataagaagacAtcaacaagcgtgcctgaggg	18	5	12	6	1	1	4	1	1	0	3	1	5	1	5	1	2	3	0	1	2	7	1			TCGA-G9-6356-01A-11D-1786-08	TCGA-G9-6356-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2bdbfc0-d13e-4d0f-904b-05c033a72b77	56d3cf13-362a-4701-850e-bd8cf98ac9a4	g.chr12:19511256A>G	ENST00000299275.6	+	21	2741	c.2735A>G	c.(2734-2736)cAt>cGt	p.H912R	PLEKHA5_ENST00000543806.1_Missense_Mutation_p.H894R|PLEKHA5_ENST00000429027.2_Missense_Mutation_p.H1078R|PLEKHA5_ENST00000538714.1_Missense_Mutation_p.H970R|PLEKHA5_ENST00000317589.4_Missense_Mutation_p.H975R|PLEKHA5_ENST00000424268.1_Missense_Mutation_p.H901R|PLEKHA5_ENST00000539256.1_Missense_Mutation_p.H670R|PLEKHA5_ENST00000359180.3_Missense_Mutation_p.H856R|PLEKHA5_ENST00000355397.3_Missense_Mutation_p.H970R	NM_019012.5	NP_061885.2	Q9HAU0	PKHA5_HUMAN	pleckstrin homology domain containing, family A member 5	912					reproductive system development (GO:0061458)	cytosol (GO:0005829)|membrane (GO:0016020)	1-phosphatidylinositol binding (GO:0005545)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4-phosphate binding (GO:0070273)|phosphatidylinositol-5-phosphate binding (GO:0010314)	p.H912R(2)|p.H1073R(1)		autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804)					ATAAGAAGACATCAACAAGCG	0.433																																					Pancreas(196;329 2193 11246 14234 19524)	ENST00000538714.1																			3	Substitution - Missense(3)	p.H912R(2)|p.H1073R(1)	prostate(3)	autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						c.(2908-2910)cAt>cGt		pleckstrin homology domain containing, family A member 5							109	91	97					12																	19511256		2203	4300	6503	SO:0001583	missense	54477						1-phosphatidylinositol binding|protein binding	g.chr12:19511256A>G	AF302150	CCDS8682.1, CCDS44840.1, CCDS44840.2, CCDS55809.1, CCDS58213.1, CCDS58214.1	12p12	2013-01-10			ENSG00000052126	ENSG00000052126		"Pleckstrin homology (PH) domain containing"	30036	protein-coding gene	gene with protein product		607770				11214970, 11001876	Standard	NM_001143821		Approved	PEPP2, KIAA1686, FLJ10667	uc031qgo.1	Q9HAU0	OTTHUMG00000167921	ENST00000299275.6:c.2735A>G	12.37:g.19511256A>G	ENSP00000299275:p.His912Arg					PLEKHA5_ENST00000355397.3_Missense_Mutation_p.H970R|PLEKHA5_ENST00000429027.2_Missense_Mutation_p.H1078R|PLEKHA5_ENST00000424268.1_Missense_Mutation_p.H901R|PLEKHA5_ENST00000543806.1_Missense_Mutation_p.H894R|PLEKHA5_ENST00000359180.3_Missense_Mutation_p.H856R|PLEKHA5_ENST00000299275.6_Missense_Mutation_p.H912R|PLEKHA5_ENST00000539256.1_Missense_Mutation_p.H670R|PLEKHA5_ENST00000317589.4_Missense_Mutation_p.H975R	p.H970R	NM_001143821.2	NP_001137293.2	Q9HAU0	PKHA5_HUMAN			23	2913	+	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804)		912	P -> S (in Ref. 6; BAA91742).				A0JP03|B4DGS1|E9PHQ3|F5H0I0|Q6NSF8|Q86ST7|Q8N3K6|Q96DY9|Q9BVR4|Q9C0H7|Q9H924|Q9NVK8	Missense_Mutation	SNP	ENST00000299275.6	37	c.2909A>G	CCDS8682.1	.	.	.	.	.	.	.	.	.	.	A	12.79	2.044801	0.36085	.	.	ENSG00000052126	ENST00000317589;ENST00000355397;ENST00000359180;ENST00000542828;ENST00000429027;ENST00000299275;ENST00000539256;ENST00000538714;ENST00000424268;ENST00000543806;ENST00000536974;ENST00000538972	T;T;T;T;T;T;T;T;T;T;T	0.52057	2.24;1.95;2.16;2.2;2.06;1.74;1.95;2.19;2.19;2.27;0.68	5.36	4.2	0.49525	.	0.150024	0.64402	D	0.000016	T	0.44265	0.1285	L	0.58810	1.83	0.39025	D	0.95982	B;B;B;B;B;B;B;B	0.23249	0.01;0.008;0.024;0.007;0.082;0.009;0.005;0.016	B;B;B;B;B;B;B;B	0.25140	0.013;0.023;0.014;0.005;0.058;0.006;0.01;0.033	T	0.49021	-0.8982	10	0.48119	T	0.1	-23.6537	11.4842	0.50344	0.9203:0.0:0.0797:0.0	.	975;894;901;1073;856;1078;912;970	Q9HAU0-4;F5H0I0;E7EME8;B4DHK5;Q9HAU0-5;E9PHQ3;Q9HAU0;Q9HAU0-2	.;.;.;.;.;.;PKHA5_HUMAN;.	R	975;970;856;1074;1078;912;670;970;901;894;867;193	ENSP00000325155:H975R;ENSP00000347560:H970R;ENSP00000352104:H856R;ENSP00000404296:H1078R;ENSP00000299275:H912R;ENSP00000440611:H670R;ENSP00000439673:H970R;ENSP00000400411:H901R;ENSP00000439837:H894R;ENSP00000440371:H867R;ENSP00000443553:H193R	ENSP00000299275:H912R	H	+	2	0	PLEKHA5	19402523	1.000000	0.71417	0.814000	0.32528	0.777000	0.43975	4.775000	0.62346	2.263000	0.75096	0.451000	0.29950	CAT		0.433	PLEKHA5-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000397013.1	NM_019012		4	36	0	0	0	0.150653	0	4	36					G	19511256	A	G	19511256	3	3	161	1	0	0	0	0	1	0	0	0	12059	217	8	4	3135	4	PLEKHA5	12	19511256	Missense_Mutation	SNP	A	TCGA-G9-6356-01A-11D-1786-08	12814605	19511256	114340639	23	7761											
PFKM	5213	broad.mit.edu	37	chr12	48533667	48533667	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctgggaggtgtacaagcttcTagctcatgtcagacccccgg	8	9	12	12	1	3	1	2	0	1	1	3	2	3	2	2	3	3	3	2	3	3	3			TCGA-G9-6356-01A-11D-1786-08	TCGA-G9-6356-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2bdbfc0-d13e-4d0f-904b-05c033a72b77	56d3cf13-362a-4701-850e-bd8cf98ac9a4	g.chr12:48533667T>C	ENST00000312352.7	+	13	1202	c.1163T>C	c.(1162-1164)cTa>cCa	p.L388P	PFKM_ENST00000547587.1_Missense_Mutation_p.L388P|PFKM_ENST00000551804.1_Missense_Mutation_p.L357P|PFKM_ENST00000340802.6_Missense_Mutation_p.L459P|PFKM_ENST00000395233.2_Missense_Mutation_p.L357P|PFKM_ENST00000359794.5_Missense_Mutation_p.L388P	NM_001166687.1	NP_001160159.1	P08237	PFKAM_HUMAN	phosphofructokinase, muscle	388	N-terminal catalytic PFK domain 1.				carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|fructose 6-phosphate metabolic process (GO:0006002)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|muscle cell cellular homeostasis (GO:0046716)|positive regulation of insulin secretion (GO:0032024)|protein oligomerization (GO:0051259)|small molecule metabolic process (GO:0044281)	6-phosphofructokinase complex (GO:0005945)|apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|sperm principal piece (GO:0097228)	6-phosphofructokinase activity (GO:0003872)|ATP binding (GO:0005524)|fructose binding (GO:0070061)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)	p.L388P(1)		NS(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	35						TACAAGCTTCTAGCTCATGTC	0.512																																						ENST00000340802.6																			1	Substitution - Missense(1)	p.L388P(1)	prostate(1)	NS(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	35						c.(1375-1377)cTa>cCa		phosphofructokinase, muscle							113	95	101					12																	48533667		2203	4300	6503	SO:0001583	missense	5213				fructose 6-phosphate metabolic process|glycolysis|muscle cell homeostasis	6-phosphofructokinase complex|apical plasma membrane	6-phosphofructokinase activity|ATP binding|identical protein binding|kinase binding|metal ion binding|protein C-terminus binding	g.chr12:48533667T>C	M26066	CCDS8760.1, CCDS53786.1	12q13.11	2014-06-13					2.7.1.11		8877	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 122"	610681	"phosphofructokinase, polypeptide X"	PFKX			Standard	NM_001166686		Approved	PFK-1, PPP1R122	uc001rrb.2	P08237		ENST00000312352.7:c.1163T>C	12.37:g.48533667T>C	ENSP00000309438:p.Leu388Pro					PFKM_ENST00000547587.1_Missense_Mutation_p.L388P|PFKM_ENST00000551804.1_Missense_Mutation_p.L357P|PFKM_ENST00000312352.7_Missense_Mutation_p.L388P|PFKM_ENST00000359794.5_Missense_Mutation_p.L388P|PFKM_ENST00000395233.2_Missense_Mutation_p.L357P	p.L459P	NM_001166686.1	NP_001160158.1	P08237	K6PF_HUMAN			15	1600	+			388					J3KNX3|Q16814|Q16815|Q6ZTT1	Missense_Mutation	SNP	ENST00000312352.7	37	c.1376T>C	CCDS8760.1	.	.	.	.	.	.	.	.	.	.	T	21.9	4.219666	0.79464	.	.	ENSG00000152556	ENST00000340802;ENST00000359794;ENST00000395233;ENST00000551804;ENST00000547587;ENST00000312352	T;T;T;T;T;T	0.80214	-1.35;-1.35;-1.35;-1.35;-1.35;-1.35	5.03	5.03	0.67393	Phosphofructokinase domain (1);	0.000000	0.64402	D	0.000003	D	0.90872	0.7132	M	0.89840	3.065	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.91833	0.5477	10	0.49607	T	0.09	-2.9809	14.1886	0.65623	0.0:0.0:0.0:1.0	.	357;388;459	P08237-2;P08237;Q6ZTT1	.;K6PF_HUMAN;.	P	459;388;357;357;388;388	ENSP00000345771:L459P;ENSP00000352842:L388P;ENSP00000378656:L357P;ENSP00000448177:L357P;ENSP00000449426:L388P;ENSP00000309438:L388P	ENSP00000309438:L388P	L	+	2	0	PFKM	46819934	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.619000	0.83057	2.239000	0.73571	0.533000	0.62120	CTA		0.512	PFKM-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406490.1	NM_000289		4	37	0	0	0	0.150653	0	4	37					C	48533667	T	C	48533667	3	2	161	1	0	0	0	0	1	0	0	0	11765	1522	53	4	1430	4	PFKM	12	48533667	Missense_Mutation	SNP	T	TCGA-G9-6356-01A-11D-1786-08	29022411	48533667	85318228	24	7762											
KRT83	3889	broad.mit.edu	37	chr12	52709845	52709845	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgcagcgggcatcactgaggGccgcctcaccctgctgctca	6	7	12	16	2	3	1	3	1	0	0	3	1	3	1	3	2	4	4	3	2	0	0			TCGA-G9-6356-01A-11D-1786-08	TCGA-G9-6356-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2bdbfc0-d13e-4d0f-904b-05c033a72b77	30010140-dae9-41fe-96c6-5af69e6bfef2	g.chr12:52709845G>T	ENST00000293670.3	-	7	1156	c.1094C>A	c.(1093-1095)gCc>gAc	p.A365D		NM_002282.3	NP_002273.3	P78385	KRT83_HUMAN	keratin 83	365	Coil 2.|Rod.				aging (GO:0007568)|epidermis development (GO:0008544)|hair cycle (GO:0042633)	extracellular space (GO:0005615)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)	p.A365D(2)		NS(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(9)|prostate(1)|skin(4)|stomach(7)|upper_aerodigestive_tract(1)	32	Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088)			BRCA - Breast invasive adenocarcinoma(357;0.189)		ATCACTGAGGGCCGCCTCACC	0.597																																					GBM(41;747 834 12702 24089 39393)|Esophageal Squamous(97;805 1414 12559 28198 31861)	ENST00000293670.3																			2	Substitution - Missense(2)	p.A365D(2)	prostate(1)|endometrium(1)	NS(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(9)|prostate(1)|skin(4)|stomach(7)|upper_aerodigestive_tract(1)	32						c.(1093-1095)gCc>gAc		keratin 83							36	36	36					12																	52709845		2203	4299	6502	SO:0001583	missense	3889				epidermis development	keratin filament	structural molecule activity	g.chr12:52709845G>T	X99141	CCDS8823.1	12q13.13	2013-06-20	2006-07-17	2006-07-17	ENSG00000170523	ENSG00000170523		"-", "Intermediate filaments type II, keratins (basic)"	6460	protein-coding gene	gene with protein product	"hard keratin type II"	602765	"keratin, hair, basic, 3"	KRTHB3		9084137, 16831889	Standard	NM_002282		Approved	Hb-3	uc001saf.2	P78385	OTTHUMG00000169632	ENST00000293670.3:c.1094C>A	12.37:g.52709845G>T	ENSP00000293670:p.Ala365Asp						p.A365D	NM_002282.3	NP_002273.3	P78385	KRT83_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.189)	7	1156	-	Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088)		365			Coil 2.|Rod.		A1A4S9|B2RC21|Q6NT21|Q9NSB3	Missense_Mutation	SNP	ENST00000293670.3	37	c.1094C>A	CCDS8823.1	.	.	.	.	.	.	.	.	.	.	G	17.16	3.319489	0.60524	.	.	ENSG00000170523	ENST00000293670	T	0.74737	-0.87	3.84	3.84	0.44239	Filament (1);	0.168584	0.27749	U	0.018016	D	0.83830	0.5339	M	0.72894	2.215	0.40384	D	0.97947	D	0.55605	0.972	D	0.64877	0.93	D	0.85501	0.1191	9	.	.	.	.	16.1279	0.81406	0.0:0.0:1.0:0.0	.	365	P78385	KRT83_HUMAN	D	365	ENSP00000293670:A365D	.	A	-	2	0	KRT83	50996112	1.000000	0.71417	0.702000	0.30337	0.425000	0.31504	7.806000	0.86020	1.867000	0.54127	0.563000	0.77884	GCC		0.597	KRT83-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405182.1	NM_002282		6	47	1	0	0.217242	0.217242	0.235731	6	47					T	52709845	G	T	52709845	3	4	161	1	0	0	0	0	1	0	0	0	8497	1203	42	5	399	5	KRT83	12	52709845	Missense_Mutation	SNP	G	TCGA-G9-6356-01A-11D-1786-08	4176178	52709845	81142050	25	7763											
LRIG3	121227	broad.mit.edu	37	chr12	59282122	59282122	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcaactcacagctcactgagCttctggcagaactcccaggc	10	7	9	15	0	3	2	2	1	1	1	4	2	4	2	1	2	4	4	1	2	2	1			TCGA-G9-6356-01A-11D-1786-08	TCGA-G9-6356-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2bdbfc0-d13e-4d0f-904b-05c033a72b77	56d3cf13-362a-4701-850e-bd8cf98ac9a4	g.chr12:59282122C>G	ENST00000320743.3	-	7	1222	c.936G>C	c.(934-936)aaG>aaC	p.K312N	LRIG3_ENST00000379141.4_Missense_Mutation_p.K252N	NM_153377.4	NP_700356.2	Q6UXM1	LRIG3_HUMAN	leucine-rich repeats and immunoglobulin-like domains 3	312					otolith morphogenesis (GO:0032474)	cytoplasmic vesicle (GO:0031410)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.K312N(2)	LRIG3/ROS1(2)	breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(12)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48			GBM - Glioblastoma multiforme(1;1.17e-18)			GCTCACTGAGCTTCTGGCAGA	0.493			T	ROS1	NSCLC																																	ENST00000320743.3				Dom	yes		12	12q14.1	121227	T	leucine-rich repeats and immunoglobulin-like domains 3			E	ROS1		NSCLC	LRIG3/ROS1(2)	2	Substitution - Missense(2)	p.K312N(2)	prostate(2)	breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(12)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						c.(934-936)aaG>aaC		leucine-rich repeats and immunoglobulin-like domains 3							90	85	87					12																	59282122		2203	4300	6503	SO:0001583	missense	121227					integral to membrane		g.chr12:59282122C>G	AY505340	CCDS8960.1, CCDS44933.1	12q13.2	2013-01-11				ENSG00000139263		"Immunoglobulin superfamily / I-set domain containing"	30991	protein-coding gene	gene with protein product		608870					Standard	NM_153377		Approved	FLJ90440, KIAA3016	uc001sqr.4	Q6UXM1	OTTHUMG00000169940	ENST00000320743.3:c.936G>C	12.37:g.59282122C>G	ENSP00000326759:p.Lys312Asn					LRIG3_ENST00000379141.4_Missense_Mutation_p.K252N	p.K312N	NM_153377.4	NP_700356.2	Q6UXM1	LRIG3_HUMAN	GBM - Glioblastoma multiforme(1;1.17e-18)		7	1222	-			312					Q6UXL7|Q8NC72	Missense_Mutation	SNP	ENST00000320743.3	37	c.936G>C	CCDS8960.1	.	.	.	.	.	.	.	.	.	.	C	13.28	2.189165	0.38707	.	.	ENSG00000139263	ENST00000379141;ENST00000320743	T;T	0.54479	0.57;0.57	5.76	0.592	0.17471	.	0.000000	0.39407	N	0.001379	T	0.40979	0.1139	N	0.04320	-0.23	0.54753	D	0.999987	B;D	0.89917	0.22;1.0	B;D	0.74348	0.198;0.983	T	0.30268	-0.9984	9	.	.	.	.	5.4682	0.16656	0.0:0.3235:0.1397:0.5369	.	252;312	Q6UXM1-2;Q6UXM1	.;LRIG3_HUMAN	N	252;312	ENSP00000368436:K252N;ENSP00000326759:K312N	.	K	-	3	2	LRIG3	57568389	0.993000	0.37304	0.998000	0.56505	0.983000	0.72400	0.259000	0.18405	-0.068000	0.12953	-0.182000	0.12963	AAG		0.493	LRIG3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406623.1	NM_153377		8	77	0	0	0	0.038147	0	8	77					G	59282122	C	G	59282122	3	3	161	1	0	0	0	0	1	0	0	0	8946	796	28	5	2475	5	LRIG3	12	59282122	Missense_Mutation	SNP	C	TCGA-G9-6356-01A-11D-1786-08	6572277	59282122	74569773	26	7764											
ZFC3H1	196441	broad.mit.edu	37	chr12	72036214	72036214	+	Splice_Site	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggtttcaagttttggctcatAcctggagaactggtttcact	8	15	10	8	0	3	1	3	0	0	1	3	2	3	1	1	4	2	4	1	4	3	5			TCGA-G9-6356-01A-11D-1786-08	TCGA-G9-6356-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2bdbfc0-d13e-4d0f-904b-05c033a72b77	56d3cf13-362a-4701-850e-bd8cf98ac9a4	g.chr12:72036214A>C	ENST00000378743.3	-	6	1986		c.e6+1		SNORA17_ENST00000391159.1_RNA	NM_144982.4	NP_659419.3	O60293	ZC3H1_HUMAN	zinc finger, C3H1-type containing						RNA processing (GO:0006396)	extracellular space (GO:0005615)|intracellular (GO:0005622)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.?(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						TTTGGCTCATACCTGGAGAAC	0.343																																						ENST00000378743.3																			1	Unknown(1)	p.?(1)	prostate(1)	NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						c.e6+1		zinc finger, C3H1-type containing							149	135	139					12																	72036214		1844	4097	5941	SO:0001630	splice_region_variant	196441				RNA processing	intracellular	metal ion binding	g.chr12:72036214A>C	AB011118	CCDS41813.1	12q21.1	2013-01-25	2008-10-01	2008-10-01		ENSG00000133858		"Zinc finger, C3H1-type containing"	28328	protein-coding gene	gene with protein product			"proline/serine-rich coiled-coil 2", "coiled-coil domain containing 131"	PSRC2, CCDC131		9628581	Standard	NM_144982		Approved	MGC23401, KIAA0546	uc001swo.2	O60293	OTTHUMG00000169545	ENST00000378743.3:c.1627+1T>G	12.37:g.72036214A>C								NM_144982.4	NP_659419.3	O60293	ZC3H1_HUMAN			6	1986	-								Q6GMU1|Q6P2S9|Q6ZV36|Q96BE7	Splice_Site	SNP	ENST00000378743.3	37		CCDS41813.1	.	.	.	.	.	.	.	.	.	.	A	22.0	4.237221	0.79800	.	.	ENSG00000133858	ENST00000378743	.	.	.	5.49	5.49	0.81192	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.5877	0.76499	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ZFC3H1	70322481	1.000000	0.71417	1.000000	0.80357	0.924000	0.55760	8.281000	0.89905	2.099000	0.63709	0.454000	0.30748	.		0.343	ZFC3H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404751.1	NM_144982	Intron	7	68	0	0	0	0.02938	0	7	68					C	72036214	A	C	72036214	5	2	161	1	0	0	0	0	0	0	1	0	17630	405	14	5	4460	5	ZFC3H1	12	72036214	Splice_Site	SNP	A	TCGA-G9-6356-01A-11D-1786-08	12754092	72036214	61815681	27	7765											
ANO4	121601	broad.mit.edu	37	chr12	101488062	101488062	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaagttgccctgcttctgaCgaatttaggtgagtggaatc	11	12	11	7	1	1	2	0	2	1	0	2	4	1	3	1	2	2	2	1	2	5	4			TCGA-G9-6356-01A-11D-1786-08	TCGA-G9-6356-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2bdbfc0-d13e-4d0f-904b-05c033a72b77	56d3cf13-362a-4701-850e-bd8cf98ac9a4	g.chr12:101488062C>T	ENST00000392977.3	+	18	1940	c.1730C>T	c.(1729-1731)aCg>aTg	p.T577M	ANO4_ENST00000392979.3_Missense_Mutation_p.T542M|ANO4_ENST00000299222.9_Missense_Mutation_p.T97M|ANO4_ENST00000550015.1_Missense_Mutation_p.T97M			Q32M45	ANO4_HUMAN	anoctamin 4	577					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)	p.T542M(1)		NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						CTGCTTCTGACGAATTTAGGT	0.328										HNSCC(74;0.22)																												ENST00000392979.3																			1	Substitution - Missense(1)	p.T542M(1)	prostate(1)	NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						c.(1624-1626)aCg>aTg		anoctamin 4							99	100	100					12																	101488062		2203	4300	6503	SO:0001583	missense	121601					chloride channel complex	chloride channel activity	g.chr12:101488062C>T	AK091540	CCDS31884.1, CCDS66445.1	12q23.3	2014-04-09	2008-08-28	2008-08-28	ENSG00000151572	ENSG00000151572		"Ion channels / Chloride channels : Calcium activated : Anoctamins"	23837	protein-coding gene	gene with protein product		610111	"transmembrane protein 16D"	TMEM16D		12739008, 15067359, 24692353	Standard	NM_178826		Approved	FLJ34221, FLJ34272, FLJ35277	uc001thw.2	Q32M45		ENST00000392977.3:c.1730C>T	12.37:g.101488062C>T	ENSP00000376703:p.Thr577Met	HNSCC(74;0.22)				ANO4_ENST00000299222.9_Missense_Mutation_p.T97M|ANO4_ENST00000392977.3_Missense_Mutation_p.T577M|ANO4_ENST00000550015.1_Missense_Mutation_p.T97M	p.T542M	NM_178826.3	NP_849148.2	Q32M45	ANO4_HUMAN			17	1986	+			577					Q8NAJ0|Q8NB39|Q8NB53	Missense_Mutation	SNP	ENST00000392977.3	37	c.1625C>T		.	.	.	.	.	.	.	.	.	.	C	24.3	4.510893	0.85389	.	.	ENSG00000151572	ENST00000392979;ENST00000299222;ENST00000392977;ENST00000550015	T;T;T;T	0.69040	-0.37;-0.37;-0.37;-0.37	5.9	5.9	0.94986	.	0.000000	0.85682	D	0.000000	D	0.87529	0.6200	H	0.94734	3.575	0.80722	D	1	D;D;D	0.89917	0.995;1.0;1.0	P;D;D	0.76071	0.901;0.987;0.977	D	0.90150	0.4220	10	0.87932	D	0	.	19.2671	0.93993	0.0:1.0:0.0:0.0	.	97;577;542	Q32M45-3;Q32M45;Q32M45-2	.;ANO4_HUMAN;.	M	542;97;577;97	ENSP00000376705:T542M;ENSP00000299222:T97M;ENSP00000376703:T577M;ENSP00000450192:T97M	ENSP00000299222:T97M	T	+	2	0	ANO4	100012193	1.000000	0.71417	0.992000	0.48379	0.909000	0.53808	7.482000	0.81143	2.788000	0.95919	0.650000	0.86243	ACG		0.328	ANO4-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000409295.1	NM_178826		5	55	0	0	0	0.184627	0	5	55					T	101488062	C	T	101488062	3	4	161	1	0	0	0	0	1	0	0	0	699	536	19	1	1687	1	ANO4	12	101488062	Missense_Mutation	SNP	C	TCGA-G9-6356-01A-11D-1786-08	29451848	101488062	32363833	28	7766											
ANAPC5	51433	broad.mit.edu	37	chr12	121746472	121746472	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tagttcttggcttcattgagGttctcgatggcagcctccag	6	14	11	10	1	3	1	1	1	2	0	5	2	4	1	2	3	1	4	2	3	1	6			TCGA-G9-6356-01A-11D-1786-08	TCGA-G9-6356-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2bdbfc0-d13e-4d0f-904b-05c033a72b77	56d3cf13-362a-4701-850e-bd8cf98ac9a4	g.chr12:121746472G>T	ENST00000261819.3	-	17	2200	c.2079C>A	c.(2077-2079)aaC>aaA	p.N693K	ANAPC5_ENST00000344395.4_Missense_Mutation_p.N581K|ANAPC5_ENST00000441917.2_Missense_Mutation_p.N581K|ANAPC5_ENST00000541887.1_Missense_Mutation_p.N680K|ANAPC5_ENST00000535482.1_Missense_Mutation_p.N359K|ANAPC5_ENST00000544314.1_5'UTR	NM_016237.4	NP_057321.2	Q9UJX4	APC5_HUMAN	anaphase promoting complex subunit 5	693					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein phosphatase binding (GO:0019903)	p.N693K(2)		breast(6)|endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|prostate(1)|skin(3)	31	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					CTTCATTGAGGTTCTCGATGG	0.453																																						ENST00000261819.3																			2	Substitution - Missense(2)	p.N693K(2)	prostate(2)	breast(6)|endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|prostate(1)|skin(3)	31						c.(2077-2079)aaC>aaA		anaphase promoting complex subunit 5							117	102	108					12																	121746472		2203	4300	6503	SO:0001583	missense	51433				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|G2/M transition of mitotic cell cycle|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm	protein phosphatase binding|ubiquitin-protein ligase activity	g.chr12:121746472G>T	AF191339	CCDS9220.1, CCDS45000.1	12q24.31	2014-08-12			ENSG00000089053	ENSG00000089053		"Anaphase promoting complex subunits"	15713	protein-coding gene	gene with protein product		606948				9469815	Standard	NM_016237		Approved	APC5	uc001uag.3	Q9UJX4	OTTHUMG00000169157	ENST00000261819.3:c.2079C>A	12.37:g.121746472G>T	ENSP00000261819:p.Asn693Lys					ANAPC5_ENST00000544314.1_5'UTR|ANAPC5_ENST00000541887.1_Missense_Mutation_p.N680K|ANAPC5_ENST00000535482.1_Missense_Mutation_p.N359K|ANAPC5_ENST00000441917.2_Missense_Mutation_p.N581K|ANAPC5_ENST00000344395.4_Missense_Mutation_p.N581K	p.N693K	NM_016237.4	NP_057321.2	Q9UJX4	APC5_HUMAN			17	2200	-	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)		693					E9PFB2|Q8N4H7|Q9BQD4	Missense_Mutation	SNP	ENST00000261819.3	37	c.2079C>A	CCDS9220.1	.	.	.	.	.	.	.	.	.	.	G	13.95	2.390882	0.42410	.	.	ENSG00000089053	ENST00000441917;ENST00000541887;ENST00000261819;ENST00000535482;ENST00000544314;ENST00000344395	T;T;T;T;T	0.75367	-0.93;-0.93;-0.93;-0.93;-0.93	5.74	3.88	0.44766	Tetratricopeptide-like helical (1);	0.156175	0.56097	D	0.000035	T	0.61085	0.2319	L	0.44542	1.39	0.80722	D	1	P;B;B	0.38370	0.628;0.118;0.255	B;B;B	0.34489	0.184;0.037;0.053	T	0.56986	-0.7888	10	0.40728	T	0.16	.	6.5596	0.22479	0.1613:0.0:0.6909:0.1478	.	359;581;693	F5H0N1;E9PFB2;Q9UJX4	.;.;APC5_HUMAN	K	581;680;693;359;295;581	ENSP00000415061:N581K;ENSP00000439875:N680K;ENSP00000261819:N693K;ENSP00000438754:N359K;ENSP00000343787:N581K	ENSP00000261819:N693K	N	-	3	2	ANAPC5	120230855	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	0.928000	0.28831	0.741000	0.32674	0.563000	0.77884	AAC		0.453	ANAPC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402582.1			7	103	1	0	1.12685e-05	0.047766	1.34672e-05	7	103					T	121746472	G	T	121746472	3	4	161	1	0	0	0	0	1	0	0	0	605	1252	44	5	192	5	ANAPC5	12	121746472	Missense_Mutation	SNP	G	TCGA-G9-6356-01A-11D-1786-08	20258410	121746472	12105423	29	7767											
PLA2G4F	255189	broad.mit.edu	37	chr15	42446634	42446634	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gccgtgggcagccacagttgCacatagcagtcggctttgga	8	8	14	11	2	0	0	0	0	0	0	1	1	0	1	2	3	3	5	2	3	1	3			TCGA-G9-6356-01A-11D-1786-08	TCGA-G9-6356-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2bdbfc0-d13e-4d0f-904b-05c033a72b77	56d3cf13-362a-4701-850e-bd8cf98ac9a4	g.chr15:42446634C>T	ENST00000382396.4	-	3	293	c.207G>A	c.(205-207)gtG>gtA	p.V69V	PLA2G4F_ENST00000397272.3_Silent_p.V69V			Q68DD2	PA24F_HUMAN	phospholipase A2, group IVF	69	C2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				arachidonic acid secretion (GO:0050482)|cellular response to antibiotic (GO:0071236)|cellular response to organic cyclic compound (GO:0071407)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid catabolic process (GO:0009395)|phospholipid metabolic process (GO:0006644)|prostaglandin biosynthetic process (GO:0001516)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|lysosome (GO:0005764)|ruffle membrane (GO:0032587)|vesicle (GO:0031982)	calcium-dependent phospholipase A2 activity (GO:0047498)|lysophospholipase activity (GO:0004622)|metal ion binding (GO:0046872)	p.V69V(1)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32		all_cancers(109;4.82e-12)|all_epithelial(112;5.64e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091)		GBM - Glioblastoma multiforme(94;8.97e-07)		GCCACAGTTGCACATAGCAGT	0.597																																						ENST00000397272.3																			1	Substitution - coding silent(1)	p.V69V(1)	prostate(1)	breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32						c.(205-207)gtG>gtA		phospholipase A2, group IVF							42	37	38					15																	42446634		2203	4299	6502	SO:0001819	synonymous_variant	255189				phospholipid catabolic process	cytosol|lysosomal membrane	metal ion binding|phospholipase A2 activity	g.chr15:42446634C>T		CCDS32204.1	15q15.1	2008-09-19				ENSG00000168907	3.1.1.4		27396	protein-coding gene	gene with protein product						14702039, 15866882	Standard	NM_213600		Approved	PLA2G4F/Z	uc001zoz.3	Q68DD2		ENST00000382396.4:c.207G>A	15.37:g.42446634C>T						PLA2G4F_ENST00000382396.4_Silent_p.V69V	p.V69V	NM_213600.3	NP_998765.3	Q68DD2	PA24F_HUMAN		GBM - Glioblastoma multiforme(94;8.97e-07)	3	298	-		all_cancers(109;4.82e-12)|all_epithelial(112;5.64e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091)	69			C2.		Q6ZMC8	Silent	SNP	ENST00000382396.4	37	c.207G>A	CCDS32204.1																																																																																				0.597	PLA2G4F-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000420463.1	NM_213600		5	32	0	0	0	0.184627	0	5	32					T	42446634	C	T	42446634	2	4	161	1	0	0	0	0	0	0	0	1	12006	697	25	3		3	PLA2G4F	15	42446634	Silent	SNP	C	TCGA-G9-6356-01A-11D-1786-08		42446634	60084758	30	7768											
KIAA0182	23199	broad.mit.edu	37	chr16	85701839	85701840	+	Frame_Shift_Ins	INS	-	-	T																															cagtcctccagccgcgccccINStccaccccagcacaatgggc																								rs200204743		TCGA-G9-6356-01A-11D-1786-08	TCGA-G9-6356-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2bdbfc0-d13e-4d0f-904b-05c033a72b77	56d3cf13-362a-4701-850e-bd8cf98ac9a4	g.chr16:85701839_85701840insT	ENST00000253458.7	+	14	3400_3401	c.3224_3225insT	c.(3223-3228)cctccafs	p.P1076fs	GSE1_ENST00000405402.2_Frame_Shift_Ins_p.P972fs|GSE1_ENST00000393243.1_Frame_Shift_Ins_p.P1003fs	NM_014615.2	NP_055430.1	Q14687	GSE1_HUMAN	Gse1 coiled-coil protein	1076																	AGCCGCGCCCCTCCACCCCAGC	0.639																																						ENST00000253458.7																			0											c.(3223-3225)cccfs		Gse1 coiled-coil protein																																				SO:0001589	frameshift_variant	23199							g.chr16:85701839_85701840insT	D80004	CCDS10952.1, CCDS45539.1, CCDS62007.1	16q24.1	2012-12-07	2012-12-07	2012-10-02	ENSG00000131149	ENSG00000131149			28979	protein-coding gene	gene with protein product	"genetic suppressor element 1"		"KIAA0182", "Gse1 coiled-coil protein homolog (mouse)"	KIAA0182		8724849, 8786132	Standard	NM_014615		Approved		uc002fix.4	Q14687	OTTHUMG00000137650	ENST00000253458.7:c.3225dupT	16.37:g.85701840_85701840dupT	ENSP00000253458:p.Pro1076fs					GSE1_ENST00000405402.2_Frame_Shift_Ins_p.P971fs|GSE1_ENST00000393243.1_Frame_Shift_Ins_p.P1002fs	p.P1075fs	NM_014615.2	NP_055430.1					14	3400_3401	+								D3DUM4|Q8IY61|Q96GA4|Q9BW09	Frame_Shift_Ins	INS	ENST00000253458.7	37	c.3224_3225insT	CCDS10952.1																																																																																				0.639	GSE1-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325527.1	NM_014615		14	123						14	123	---	---	---	---	T	85701840	-	T	85701839	7	5	161	1	0	1	1	0	0	0	0	0	8159	681	24	0	3278	0	KIAA0182	16	85701839	Frame_Shift_Ins	INS	-	TCGA-G9-6356-01A-11D-1786-08		85701839	4652914	31	7769											
USH1G	124590	broad.mit.edu	37	chr17	72915904	72915904	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagctctgcagccgaccccGcggcgctcccaccccatcca	6	4	10	21	4	1	0	0	0	1	0	3	2	3	1	7	2	3	3	7	2	0	0			TCGA-G9-6356-01A-11D-1786-08	TCGA-G9-6356-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2bdbfc0-d13e-4d0f-904b-05c033a72b77	56d3cf13-362a-4701-850e-bd8cf98ac9a4	g.chr17:72915904G>A	ENST00000319642.1	-	2	1209	c.1027C>T	c.(1027-1029)Cgg>Tgg	p.R343W		NM_001282489.1|NM_173477.2	NP_001269418.1|NP_775748.2	Q495M9	USH1G_HUMAN	Usher syndrome 1G (autosomal recessive)	343					equilibrioception (GO:0050957)|inner ear morphogenesis (GO:0042472)|inner ear receptor cell differentiation (GO:0060113)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	spectrin binding (GO:0030507)	p.R343W(1)	HN1/USH1G(2)	endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|prostate(1)|skin(3)	14	all_lung(278;0.172)|Lung NSC(278;0.207)					AGCCGACCCCGCGGCGCTCCC	0.687																																						ENST00000319642.1																		HN1/USH1G(2)	1	Substitution - Missense(1)	p.R343W(1)	prostate(1)	endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|prostate(1)|skin(3)	14						c.(1027-1029)Cgg>Tgg		Usher syndrome 1G (autosomal recessive)							37	46	43					17																	72915904		2201	4293	6494	SO:0001583	missense	124590				equilibrioception|photoreceptor cell maintenance|sensory perception of sound	actin cytoskeleton		g.chr17:72915904G>A	AK091243	CCDS32725.1	17q25.1	2013-01-10			ENSG00000182040	ENSG00000182040		"Sterile alpha motif (SAM) domain containing", "Ankyrin repeat domain containing"	16356	protein-coding gene	gene with protein product		607696				12588794	Standard	NM_001282489		Approved	Sans, FLJ33924, ANKS4A	uc002jme.1	Q495M9	OTTHUMG00000178864	ENST00000319642.1:c.1027C>T	17.37:g.72915904G>A	ENSP00000320076:p.Arg343Trp						p.R343W	NM_173477.2	NP_775748.2	Q495M9	USH1G_HUMAN			2	1209	-	all_lung(278;0.172)|Lung NSC(278;0.207)		343					Q8N251	Missense_Mutation	SNP	ENST00000319642.1	37	c.1027C>T	CCDS32725.1	.	.	.	.	.	.	.	.	.	.	G	14.07	2.424552	0.43020	.	.	ENSG00000182040	ENST00000319642	T	0.71341	-0.56	4.34	3.36	0.38483	.	0.353403	0.29900	N	0.010915	T	0.64929	0.2643	L	0.32530	0.975	0.45194	D	0.998209	D	0.69078	0.997	P	0.47299	0.543	T	0.69468	-0.5137	10	0.72032	D	0.01	-21.4193	13.7601	0.62961	0.0:0.0:0.8452:0.1548	.	343	Q495M9	USH1G_HUMAN	W	343	ENSP00000320076:R343W	ENSP00000320076:R343W	R	-	1	2	USH1G	70427499	1.000000	0.71417	0.930000	0.37139	0.300000	0.27592	4.464000	0.60134	1.061000	0.40601	-0.276000	0.10085	CGG		0.687	USH1G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443676.1	NM_173477		4	84	0	0	0	0.184627	0	4	84					A	72915904	G	A	72915904	3	1	161	1	0	0	0	0	1	0	0	0	17032	1086	38	1	366	1	USH1G	17	72915904	Missense_Mutation	SNP	G	TCGA-G9-6356-01A-11D-1786-08		72915904	8279306	32	7770											
DNAH17	8632	broad.mit.edu	37	chr17	76459153	76459153	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagctgatggaggccttgaCttcccactacaaagatgaga	13	8	11	9	0	0	4	0	3	0	2	1	7	1	5	2	2	2	1	2	2	3	3			TCGA-G9-6356-01A-11D-1786-08	TCGA-G9-6356-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2bdbfc0-d13e-4d0f-904b-05c033a72b77	56d3cf13-362a-4701-850e-bd8cf98ac9a4	g.chr17:76459153C>T	ENST00000585328.1	-	57	9056	c.8932G>A	c.(8932-8934)Gtc>Atc	p.V2978I	DNAH17_ENST00000586052.1_5'UTR|DNAH17_ENST00000389840.5_Missense_Mutation_p.V2969I	NM_173628.3	NP_775899.3	Q9UFH2	DYH17_HUMAN	dynein, axonemal, heavy chain 17	2969	AAA 4. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.V2978I(1)		NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			GAGGCCTTGACTTCCCACTAC	0.562																																						ENST00000389840.5																			1	Substitution - Missense(1)	p.V2978I(1)	prostate(1)	NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116						c.(8905-8907)Gtc>Atc		dynein, axonemal, heavy chain 17							108	83	91					17																	76459153		2203	4300	6503	SO:0001583	missense	8632							g.chr17:76459153C>T	AJ000522		17q25.3	2012-04-19	2006-09-04		ENSG00000187775	ENSG00000187775		"Axonemal dyneins"	2946	protein-coding gene	gene with protein product		610063	"dynein, axonemal, heavy polypeptide 17", "dynein, axonemal, heavy chain like 1", "dynein, axonemal, heavy like 1"	DNAHL1		9545504	Standard	NM_173628		Approved	DNEL2, FLJ40457	uc010dhp.2	Q9UFH2		ENST00000585328.1:c.8932G>A	17.37:g.76459153C>T	ENSP00000465516:p.Val2978Ile					DNAH17_ENST00000585328.1_Missense_Mutation_p.V2978I|DNAH17_ENST00000586052.1_5'UTR	p.V2969I					BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)		57	9029	-								O00431|O15206|Q2M2Y1|Q6ZRQ2|Q8N7Q7	Missense_Mutation	SNP	ENST00000585328.1	37	c.8905G>A		.	.	.	.	.	.	.	.	.	.	C	14.99	2.698846	0.48307	.	.	ENSG00000187775	ENST00000300671;ENST00000389840	T	0.46451	0.87	4.91	4.91	0.64330	.	.	.	.	.	T	0.34571	0.0902	N	0.16130	0.375	0.42825	D	0.994008	.	.	.	.	.	.	T	0.11842	-1.0571	7	0.15952	T	0.53	.	17.6869	0.88258	0.0:1.0:0.0:0.0	.	.	.	.	I	2978;2969	ENSP00000374490:V2969I	ENSP00000300671:V2978I	V	-	1	0	DNAH17	73970748	1.000000	0.71417	0.979000	0.43373	0.780000	0.44128	5.676000	0.68131	2.277000	0.76020	0.555000	0.69702	GTC		0.562	DNAH17-001	PUTATIVE	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000318962.2	NM_173628		3	27	0	0	0	0.150653	0	3	27					T	76459153	C	T	76459153	3	4	161	1	0	0	0	0	1	0	0	0	4601	565	20	3	4541	3	DNAH17	17	76459153	Missense_Mutation	SNP	C	TCGA-G9-6356-01A-11D-1786-08	3543249	76459153	4736057	33	7771											
LILRA4	23547	broad.mit.edu	37	chr19	54849889	54849889	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccctgacaccagatggtcaCggggttatgccaggtgatca	9	8	13	11	1	2	3	2	2	0	1	2	3	2	3	3	4	1	1	3	4	1	1			TCGA-G9-6356-01A-11D-1786-08	TCGA-G9-6356-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2bdbfc0-d13e-4d0f-904b-05c033a72b77	56d3cf13-362a-4701-850e-bd8cf98ac9a4	g.chr19:54849889C>T	ENST00000291759.4	-	3	189	c.133G>A	c.(133-135)Gtg>Atg	p.V45M	AC008984.2_ENST00000507363.1_RNA	NM_012276.3	NP_036408.3	P59901	LIRA4_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 4	45	Ig-like C2-type 1.				immune system process (GO:0002376)	integral component of membrane (GO:0016021)		p.V45M(1)		NS(2)|breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	32	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0565)		CAGATGGTCACGGGGTTATGC	0.537											OREG0003656	type=REGULATORY REGION|Gene=LILRA4|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																										ENST00000291759.4																			1	Substitution - Missense(1)	p.V45M(1)	prostate(1)	NS(2)|breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	32						c.(133-135)Gtg>Atg		leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 4							103	92	96					19																	54849889		2203	4300	6503	SO:0001583	missense	23547					integral to membrane	receptor activity	g.chr19:54849889C>T	AF041261	CCDS12890.1	19q13.4	2013-01-11			ENSG00000239961	ENSG00000239961		"Leukocyte immunoglobulin-like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	15503	protein-coding gene	gene with protein product		607517				10941842	Standard	NM_012276		Approved	ILT7, CD85g	uc002qfj.3	P59901	OTTHUMG00000065355	ENST00000291759.4:c.133G>A	19.37:g.54849889C>T	ENSP00000291759:p.Val45Met		OREG0003656	type=REGULATORY REGION|Gene=LILRA4|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	1003		p.V45M	NM_012276.3	NP_036408.3	P59901	LIRA4_HUMAN		GBM - Glioblastoma multiforme(193;0.0565)	3	189	-	Ovarian(34;0.19)		45			Ig-like C2-type 1.		Q32MC4	Missense_Mutation	SNP	ENST00000291759.4	37	c.133G>A	CCDS12890.1	.	.	.	.	.	.	.	.	.	.	.	11.48	1.651589	0.29336	.	.	ENSG00000239961	ENST00000291759	T	0.16897	2.31	2.5	0.302	0.15786	Immunoglobulin-like fold (1);	0.135368	0.33610	N	0.004727	T	0.36799	0.0980	M	0.88377	2.95	0.09310	N	0.999999	D	0.89917	1.0	D	0.68483	0.958	T	0.11397	-1.0589	10	0.38643	T	0.18	.	4.4673	0.11696	0.0:0.6605:0.0:0.3395	.	45	P59901	LIRA4_HUMAN	M	45	ENSP00000291759:V45M	ENSP00000291759:V45M	V	-	1	0	LILRA4	59541701	0.097000	0.21791	0.196000	0.23383	0.040000	0.13550	0.539000	0.23175	0.140000	0.18849	0.557000	0.71058	GTG		0.537	LILRA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000140229.2	NM_012276		7	98	0	0	0	0.038147	0	7	98					T	54849889	C	T	54849889	3	4	161	1	0	0	0	0	1	0	0	0	8787	536	19	1	1390	1	LILRA4	19	54849889	Missense_Mutation	SNP	C	TCGA-G9-6356-01A-11D-1786-08		54849889	4279094	34	7772											
ZNF134	7693	broad.mit.edu	37	chr19	58132430	58132430	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gtattcacactggagaaaatCcttatgattgcagtgattgt	12	14	9	6	0	1	3	1	2	0	1	2	4	2	3	1	1	1	2	1	1	4	5			TCGA-G9-6356-01A-11D-1786-08	TCGA-G9-6356-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2bdbfc0-d13e-4d0f-904b-05c033a72b77	56d3cf13-362a-4701-850e-bd8cf98ac9a4	g.chr19:58132430C>T	ENST00000396161.5	+	3	1253	c.943C>T	c.(943-945)Cct>Tct	p.P315S		NM_003435.3	NP_003426.3	P52741	ZN134_HUMAN	zinc finger protein 134	315					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.P315S(2)		endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(3)|prostate(1)	11		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0265)		TGGAGAAAATCCTTATGATTG	0.418																																						ENST00000396161.5																			2	Substitution - Missense(2)	p.P315S(2)	prostate(2)	endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(3)|prostate(1)	11						c.(943-945)Cct>Tct		zinc finger protein 134							132	135	134					19																	58132430		2201	4300	6501	SO:0001583	missense	7693					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:58132430C>T	U09412	CCDS42638.1	19q13.4	2013-01-08	2006-06-13			ENSG00000213762		"Zinc fingers, C2H2-type"	12918	protein-coding gene	gene with protein product		604076	"zinc finger protein 134 (clone pHZ-15)"			7557990	Standard	NM_003435		Approved	pHZ-15	uc002qpn.2	P52741		ENST00000396161.5:c.943C>T	19.37:g.58132430C>T	ENSP00000379464:p.Pro315Ser						p.P315S	NM_003435.3	NP_003426.3	P52741	ZN134_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0265)	3	1253	+		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156)	315					Q9Y4B2	Missense_Mutation	SNP	ENST00000396161.5	37	c.943C>T	CCDS42638.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.148501	0.78001	.	.	ENSG00000213762	ENST00000418193;ENST00000541849;ENST00000396161	T	0.28454	1.61	4.45	4.45	0.53987	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.45458	0.1343	L	0.41027	1.25	0.39501	D	0.968204	D	0.76494	0.999	D	0.64687	0.928	T	0.49652	-0.8917	9	0.87932	D	0	.	16.3388	0.83075	0.0:1.0:0.0:0.0	.	315	P52741	ZN134_HUMAN	S	382;235;315	ENSP00000379464:P315S	ENSP00000379464:P315S	P	+	1	0	ZNF134	62824242	0.476000	0.25901	0.999000	0.59377	0.994000	0.84299	3.294000	0.51787	2.458000	0.83093	0.561000	0.74099	CCT		0.418	ZNF134-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466808.1	NM_003435		4	104	0	0	0	0.184627	0	4	104					T	58132430	C	T	58132430	3	4	161	1	0	0	0	0	1	0	0	0	17721	855	30	3	949	3	ZNF134	19	58132430	Missense_Mutation	SNP	C	TCGA-G9-6356-01A-11D-1786-08	3282541	58132430	996553	35	7773											
GART	2618	broad.mit.edu	37	chr21	34903824	34903824	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctccgtcaagaagttcttCaatgacaattgtttctccag	10	15	6	10	1	5	2	2	1	3	1	7	2	5	2	2	0	0	2	2	0	4	5			TCGA-G9-6356-01A-11D-1786-08	TCGA-G9-6356-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2bdbfc0-d13e-4d0f-904b-05c033a72b77	56d3cf13-362a-4701-850e-bd8cf98ac9a4	g.chr21:34903824C>A	ENST00000381831.3	-	6	831	c.568G>T	c.(568-570)Gaa>Taa	p.E190*	GART_ENST00000381839.3_Nonsense_Mutation_p.E190*|GART_ENST00000381815.4_Nonsense_Mutation_p.E190*|GART_ENST00000497313.1_5'UTR|GART_ENST00000361093.5_Nonsense_Mutation_p.E190*	NM_001136005.1	NP_001129477.1	P22102	PUR2_HUMAN	phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase	190	ATP-grasp.				'de novo' IMP biosynthetic process (GO:0006189)|brainstem development (GO:0003360)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|glycine metabolic process (GO:0006544)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase biosynthetic process (GO:0009113)|purine nucleobase metabolic process (GO:0006144)|purine ribonucleoside monophosphate biosynthetic process (GO:0009168)|response to inorganic substance (GO:0010035)|response to organic substance (GO:0010033)|small molecule metabolic process (GO:0044281)|tetrahydrofolate biosynthetic process (GO:0046654)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)|phosphoribosylamine-glycine ligase activity (GO:0004637)|phosphoribosylformylglycinamidine cyclo-ligase activity (GO:0004641)|phosphoribosylglycinamide formyltransferase activity (GO:0004644)	p.E190*(1)		NS(2)|breast(1)|endometrium(3)|large_intestine(3)|lung(13)|ovary(3)|prostate(5)|urinary_tract(1)	31					Pemetrexed(DB00642)	AGAAGTTCTTCAATGACAATT	0.353																																						ENST00000381831.3																			1	Substitution - Nonsense(1)	p.E190*(1)	prostate(1)	NS(2)|breast(1)|endometrium(3)|large_intestine(3)|lung(13)|ovary(3)|prostate(5)|urinary_tract(1)	31						c.(568-570)Gaa>Taa		phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase	Pemetrexed(DB00642)						143	144	144					21																	34903824		2203	4300	6503	SO:0001587	stop_gained	2618				'de novo' IMP biosynthetic process|purine base biosynthetic process	cytosol	ATP binding|metal ion binding|methyltransferase activity|phosphoribosylamine-glycine ligase activity|phosphoribosylformylglycinamidine cyclo-ligase activity|phosphoribosylglycinamide formyltransferase activity|protein binding	g.chr21:34903824C>A	M32082	CCDS13627.1, CCDS13628.1	21q22.11	2012-10-02			ENSG00000159131	ENSG00000159131	2.1.2.2, 6.3.3.1, 6.3.4.13		4163	protein-coding gene	gene with protein product		138440		PRGS, PGFT		2050105	Standard	NM_001136005		Approved		uc002yrx.3	P22102	OTTHUMG00000065628	ENST00000381831.3:c.568G>T	21.37:g.34903824C>A	ENSP00000371253:p.Glu190*					GART_ENST00000381815.4_Nonsense_Mutation_p.E190*|GART_ENST00000497313.1_5'UTR|GART_ENST00000361093.5_Nonsense_Mutation_p.E190*|GART_ENST00000381839.3_Nonsense_Mutation_p.E190*	p.E190*	NM_001136005.1	NP_001129477.1	P22102	PUR2_HUMAN			6	831	-			190			ATP-grasp.		A8K945|A8KA32|D3DSF3|D3DSF4|O14659|Q52M77	Nonsense_Mutation	SNP	ENST00000381831.3	37	c.568G>T	CCDS13627.1	.	.	.	.	.	.	.	.	.	.	C	39	7.378762	0.98248	.	.	ENSG00000159131	ENST00000381815;ENST00000381831;ENST00000381839;ENST00000361093;ENST00000430874;ENST00000426819	.	.	.	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-33.5951	20.6439	0.99570	0.0:1.0:0.0:0.0	.	.	.	.	X	190	.	ENSP00000354388:E190X	E	-	1	0	GART	33825694	1.000000	0.71417	0.997000	0.53966	0.996000	0.88848	6.786000	0.75094	2.890000	0.99128	0.650000	0.86243	GAA		0.353	GART-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000140626.3	NM_000819		16	168	1	0	5.01169e-05	0.160694	5.84698e-05	16	168					A	34903824	C	A	34903824	4	1	161	1	0	0	0	0	0	1	0	0	6243	835	29	5	2536	5	GART	21	34903824	Nonsense_Mutation	SNP	C	TCGA-G9-6356-01A-11D-1786-08		34903824	13226071	36	7774											
RHOC	389	broad.mit.edu	37	chr1	113245708	113245708	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ccgcagtcgatcatagtcttCctgccctgctgtgtcccaca	6	11	8	16	2	2	0	1	0	1	0	5	1	4	0	4	0	2	2	4	0	1	2			TCGA-G9-6361-01A-21D-1961-08	TCGA-G9-6361-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae721ffe-45da-4029-bcbd-6e218f607de2	1977a26b-0d18-495c-8a57-ac73a2953e90	g.chr1:113245708C>T	ENST00000285735.2	-	4	1399	c.190G>A	c.(190-192)Gaa>Aaa	p.E64K	RHOC_ENST00000369638.2_Missense_Mutation_p.E64K|RHOC_ENST00000369636.2_Missense_Mutation_p.E64K|RHOC_ENST00000369633.2_Missense_Mutation_p.E64K|RHOC_ENST00000369637.1_Missense_Mutation_p.E64K|RHOC_ENST00000369642.3_Missense_Mutation_p.E64K|RHOC_ENST00000369632.2_Missense_Mutation_p.E64K|RP11-426L16.10_ENST00000471038.2_5'UTR|RHOC_ENST00000339083.7_Missense_Mutation_p.E64K|RP11-426L16.10_ENST00000606505.1_Missense_Mutation_p.G227E			P08134	RHOC_HUMAN	ras homolog family member C	64					apical junction assembly (GO:0043297)|axon guidance (GO:0007411)|cytokinesis (GO:0000910)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cleavage furrow (GO:0032154)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|signal transducer activity (GO:0004871)			endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	9	Lung SC(450;0.246)	all_cancers(81;1.44e-07)|all_epithelial(167;7.64e-07)|all_lung(203;2.16e-05)|Lung NSC(69;3.86e-05)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TCATAGTCTTCCTGCCCTGCT	0.612																																						ENST00000285735.2																			0				endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	9						c.(190-192)Gaa>Aaa		ras homolog family member C							77	71	73					1																	113245708		2203	4300	6503	SO:0001583	missense	389				axon guidance|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding|GTPase activity|signal transducer activity	g.chr1:113245708C>T	BC052808	CCDS854.1	1p13.1	2012-02-27	2012-02-27	2004-03-24	ENSG00000155366	ENSG00000155366			669	protein-coding gene	gene with protein product		165380	"ras homolog gene family, member C"	ARH9, ARHC		3283705	Standard	NM_001042678		Approved	RhoC	uc001ecp.1	P08134	OTTHUMG00000011905	ENST00000285735.2:c.190G>A	1.37:g.113245708C>T	ENSP00000285735:p.Glu64Lys					RHOC_ENST00000369632.2_Missense_Mutation_p.E64K|RHOC_ENST00000369633.2_Missense_Mutation_p.E64K|RHOC_ENST00000369636.2_Missense_Mutation_p.E64K|RHOC_ENST00000369637.1_Missense_Mutation_p.E64K|RHOC_ENST00000369638.2_Missense_Mutation_p.E64K|RHOC_ENST00000369642.3_Missense_Mutation_p.E64K|RP11-426L16.10_ENST00000471038.2_5'UTR|RHOC_ENST00000339083.7_Missense_Mutation_p.E64K|RP11-426L16.10_ENST00000606505.1_Missense_Mutation_p.G227E	p.E64K			P08134	RHOC_HUMAN		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	4	1399	-	Lung SC(450;0.246)	all_cancers(81;1.44e-07)|all_epithelial(167;7.64e-07)|all_lung(203;2.16e-05)|Lung NSC(69;3.86e-05)	64					B3KSW1|Q6ICN3	Missense_Mutation	SNP	ENST00000285735.2	37	c.190G>A	CCDS854.1	.	.	.	.	.	.	.	.	.	.	C	37	5.993906	0.97184	.	.	ENSG00000155366	ENST00000339083;ENST00000369633;ENST00000369642;ENST00000285735;ENST00000369638;ENST00000369637;ENST00000369636;ENST00000369632;ENST00000484054;ENST00000425265;ENST00000534717;ENST00000436685;ENST00000414971	D;D;D;D;D;D;D;D;D;D;D;D;D	0.83992	-1.79;-1.79;-1.79;-1.79;-1.79;-1.79;-1.79;-1.79;-1.79;-1.79;-1.79;-1.79;-1.79	5.4	5.4	0.78164	Small GTP-binding protein domain (1);	0.000000	0.49916	D	0.000140	D	0.92208	0.7529	H	0.95780	3.72	0.80722	D	1	D	0.52996	0.957	P	0.57502	0.822	D	0.94142	0.7398	10	0.87932	D	0	-8.4297	18.7749	0.91907	0.0:1.0:0.0:0.0	.	64	P08134	RHOC_HUMAN	K	64;64;64;64;64;64;64;64;101;64;64;64;64	ENSP00000345236:E64K;ENSP00000358647:E64K;ENSP00000358656:E64K;ENSP00000285735:E64K;ENSP00000358652:E64K;ENSP00000358651:E64K;ENSP00000358650:E64K;ENSP00000358646:E64K;ENSP00000434877:E101K;ENSP00000390823:E64K;ENSP00000436240:E64K;ENSP00000399424:E64K;ENSP00000395791:E64K	ENSP00000285735:E64K	E	-	1	0	RHOC	113047231	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.042000	0.70996	2.537000	0.85549	0.561000	0.74099	GAA		0.612	RHOC-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032904.2	NM_175744		9	46	0	0	0	0.004482	0	9	46					T	113245708	C	T	113245708	3	4	162	1	0	0	0	0	1	0	0	0	13336	864	30	3	403	3	RHOC	1	113245708	Missense_Mutation	SNP	C	TCGA-G9-6361-01A-21D-1961-08		113245708	136004913	1	7775											
TTF2	8458	broad.mit.edu	37	chr1	117631499	117631499	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcacaatgttaagaatccccGagtgcagacttccatagctg	12	10	8	11	1	1	2	1	0	0	2	3	3	3	2	3	0	2	3	3	0	4	3			TCGA-G9-6361-01A-21D-1961-08	TCGA-G9-6361-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae721ffe-45da-4029-bcbd-6e218f607de2	1977a26b-0d18-495c-8a57-ac73a2953e90	g.chr1:117631499G>A	ENST00000369466.4	+	13	2281	c.2237G>A	c.(2236-2238)cGa>cAa	p.R746Q		NM_003594.3	NP_003585.3	Q9UNY4	TTF2_HUMAN	transcription termination factor, RNA polymerase II	746	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				ATP catabolic process (GO:0006200)|DNA-templated transcription, termination (GO:0006353)|mRNA processing (GO:0006397)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)	cytoplasm (GO:0005737)|spliceosomal complex (GO:0005681)|transcription elongation factor complex (GO:0008023)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(24)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	50	Lung SC(450;0.225)	all_cancers(81;4.23e-06)|all_epithelial(167;3.65e-07)|all_lung(203;2.81e-06)|Lung NSC(69;1.98e-05)		Lung(183;0.0553)|Colorectal(144;0.179)|LUSC - Lung squamous cell carcinoma(189;0.19)		AAGAATCCCCGAGTGCAGACT	0.473																																						ENST00000369466.3																			0				NS(1)|autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(24)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	50						c.(2236-2238)cGa>cAa		transcription termination factor, RNA polymerase II							136	135	135					1																	117631499		2203	4300	6503	SO:0001583	missense	8458				mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|termination of RNA polymerase II transcription	cytoplasm|spliceosomal complex|transcription elongation factor complex	ATP binding|ATP-dependent helicase activity|DNA binding|DNA-dependent ATPase activity|protein binding|zinc ion binding	g.chr1:117631499G>A	AF073771	CCDS892.1	1p13.1	2014-02-18			ENSG00000116830	ENSG00000116830			12398	protein-coding gene	gene with protein product	"zinc finger, GRF-type containing 6"	604718				9748214	Standard	NM_003594		Approved	HuF2, ZGRF6	uc001egy.3	Q9UNY4	OTTHUMG00000012030	ENST00000369466.4:c.2237G>A	1.37:g.117631499G>A	ENSP00000358478:p.Arg746Gln						p.R746Q	NM_003594.3	NP_003585.3	Q9UNY4	TTF2_HUMAN		Lung(183;0.0553)|Colorectal(144;0.179)|LUSC - Lung squamous cell carcinoma(189;0.19)	13	2281	+	Lung SC(450;0.225)	all_cancers(81;4.23e-06)|all_epithelial(167;3.65e-07)|all_lung(203;2.81e-06)|Lung NSC(69;1.98e-05)	746			Helicase ATP-binding.		A8K4Q2|O75921|Q5T2K7|Q5VVU8|Q8N6I8	Missense_Mutation	SNP	ENST00000369466.4	37	c.2237G>A	CCDS892.1	.	.	.	.	.	.	.	.	.	.	G	24.7	4.561046	0.86335	.	.	ENSG00000116830	ENST00000369466	D	0.93189	-3.18	5.8	4.88	0.63580	DEAD-like helicase (2);SNF2-related (1);	0.000000	0.33092	N	0.005285	D	0.91713	0.7380	L	0.37800	1.135	0.40263	D	0.978195	D	0.89917	1.0	D	0.75020	0.985	D	0.92063	0.5658	10	0.49607	T	0.09	-10.0536	8.5304	0.33331	0.1709:0.0:0.8291:0.0	.	746	Q9UNY4	TTF2_HUMAN	Q	746	ENSP00000358478:R746Q	ENSP00000358478:R746Q	R	+	2	0	TTF2	117433022	0.838000	0.29461	0.996000	0.52242	0.946000	0.59487	2.904000	0.48719	1.454000	0.47793	0.650000	0.86243	CGA		0.473	TTF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033277.3			5	171	0	0	0	0.001168	0	5	171					A	117631499	G	A	117631499	3	1	162	1	0	0	0	0	1	0	0	0	16716	1058	37	2	2287	2	TTF2	1	117631499	Missense_Mutation	SNP	G	TCGA-G9-6361-01A-21D-1961-08	4385791	117631499	131619122	2	7776											
KIAA0907	22889	broad.mit.edu	37	chr1	155891693	155891693	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	taatctgattcacaaatctaGagtattcagcatgaacctga	15	12	6	8	0	4	4	2	3	2	1	4	4	4	4	1	0	2	2	1	0	5	5			TCGA-G9-6361-01A-21D-1961-08	TCGA-G9-6361-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae721ffe-45da-4029-bcbd-6e218f607de2	1977a26b-0d18-495c-8a57-ac73a2953e90	g.chr1:155891693G>C	ENST00000368321.3	-	9	994	c.971C>G	c.(970-972)tCt>tGt	p.S324C	KIAA0907_ENST00000368319.3_Missense_Mutation_p.S324C|KIAA0907_ENST00000482337.1_5'UTR|KIAA0907_ENST00000368320.3_Missense_Mutation_p.S324C|SNORA42_ENST00000384744.1_RNA	NM_014949.2	NP_055764.2	Q7Z7F0	K0907_HUMAN	KIAA0907	324							RNA binding (GO:0003723)			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|urinary_tract(1)	21	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;8.82e-06)			CACAAATCTAGAGTATTCAGC	0.363																																						ENST00000368320.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|urinary_tract(1)	21						c.(970-972)tCt>tGt		KIAA0907							69	69	69					1																	155891693		2203	4300	6503	SO:0001583	missense	22889							g.chr1:155891693G>C	BC062637	CCDS30885.1	1q22	2012-11-30			ENSG00000132680	ENSG00000132680			29145	protein-coding gene	gene with protein product						10048485	Standard	NM_014949		Approved	BLOM7	uc001fmi.1	Q7Z7F0	OTTHUMG00000014103	ENST00000368321.3:c.971C>G	1.37:g.155891693G>C	ENSP00000357304:p.Ser324Cys					KIAA0907_ENST00000482337.1_5'UTR|KIAA0907_ENST00000368321.3_Missense_Mutation_p.S324C|KIAA0907_ENST00000368319.3_Missense_Mutation_p.S324C	p.S324C			Q7Z7F0	K0907_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;8.82e-06)		9	996	-	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		324					O94981|Q7L7Q2|Q7Z7E9|Q8TBQ0	Missense_Mutation	SNP	ENST00000368321.3	37	c.971C>G	CCDS30885.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.986772	0.74589	.	.	ENSG00000132680	ENST00000368321;ENST00000368320;ENST00000368319	T;T;T	0.46819	0.86;0.86;0.86	5.94	5.94	0.96194	.	0.000000	0.85682	D	0.000000	T	0.48714	0.1515	L	0.50333	1.59	0.80722	D	1	D;P;P	0.53151	0.958;0.9;0.9	P;P;P	0.52554	0.702;0.614;0.542	T	0.48364	-0.9042	10	0.66056	D	0.02	-17.2111	18.1253	0.89584	0.0:0.0:1.0:0.0	.	324;324;324	Q7Z7F0-3;Q7Z7F0-2;Q7Z7F0	.;.;K0907_HUMAN	C	324	ENSP00000357304:S324C;ENSP00000357303:S324C;ENSP00000357302:S324C	ENSP00000357302:S324C	S	-	2	0	KIAA0907	154158317	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	7.684000	0.84104	2.821000	0.97095	0.484000	0.47621	TCT		0.363	KIAA0907-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039583.1	NM_014949		9	24	0	0	0	0.004482	0	9	24					C	155891693	G	C	155891693	3	2	162	1	0	0	0	0	1	0	0	0	8199	942	33	5	897	5	KIAA0907	1	155891693	Missense_Mutation	SNP	G	TCGA-G9-6361-01A-21D-1961-08	38260194	155891693	93358928	3	7777											
KCNT2	343450	broad.mit.edu	37	chr1	196285089	196285089	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcttcctcggcactcatggTgctctctttatccacaacca	7	13	6	15	1	3	0	1	0	2	0	7	0	5	0	3	2	2	2	3	2	2	3			TCGA-G9-6361-01A-21D-1961-08	TCGA-G9-6361-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae721ffe-45da-4029-bcbd-6e218f607de2	1977a26b-0d18-495c-8a57-ac73a2953e90	g.chr1:196285089T>A	ENST00000294725.9	-	21	3331	c.2416A>T	c.(2416-2418)Acc>Tcc	p.T806S	KCNT2_ENST00000367431.4_Missense_Mutation_p.T732S|KCNT2_ENST00000498426.1_5'UTR|KCNT2_ENST00000367433.5_Missense_Mutation_p.T782S|KCNT2_ENST00000451324.2_3'UTR|KCNT2_ENST00000609185.1_Missense_Mutation_p.T732S			Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	806					potassium ion transmembrane transport (GO:0071805)	voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|calcium-activated potassium channel activity (GO:0015269)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						GCACTCATGGTGCTCTCTTTA	0.433																																						ENST00000367433.5																			0				NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						c.(2344-2346)Acc>Tcc		potassium channel, subfamily T, member 2							140	114	123					1																	196285089		2203	4300	6503	SO:0001583	missense	343450					voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity	g.chr1:196285089T>A	BX647852, AY359444, AK127807	CCDS1384.1, CCDS72994.1, CCDS72995.1	1q31.3	2012-07-05			ENSG00000162687	ENSG00000162687		"Potassium channels", "Voltage-gated ion channels / Potassium channels, calcium-activated"	18866	protein-coding gene	gene with protein product	"sodium and chloride activated ATP sensitive potassium channel"	610044				16382103	Standard	NM_198503		Approved	KCa4.2, SLICK, SLO2.1	uc001gtd.1	Q6UVM3	OTTHUMG00000035611	ENST00000294725.9:c.2416A>T	1.37:g.196285089T>A	ENSP00000294725:p.Thr806Ser					KCNT2_ENST00000367431.4_Missense_Mutation_p.T732S|KCNT2_ENST00000451324.2_3'UTR|KCNT2_ENST00000498426.1_5'UTR|KCNT2_ENST00000294725.8_Missense_Mutation_p.T806S	p.T782S			Q6UVM3	KCNT2_HUMAN			20	2445	-			806					Q3SY59|Q5VTN1|Q6ZMT3	Missense_Mutation	SNP	ENST00000294725.9	37	c.2344A>T	CCDS1384.1	.	.	.	.	.	.	.	.	.	.	T	12.36	1.914311	0.33815	.	.	ENSG00000162687	ENST00000367433;ENST00000367431;ENST00000294725	T;T;T	0.72725	-0.68;-0.68;-0.68	5.87	5.87	0.94306	.	0.000000	0.64402	D	0.000003	T	0.47820	0.1466	N	0.04686	-0.185	0.80722	D	1	B;B;B;B;B	0.25521	0.008;0.128;0.028;0.028;0.008	B;B;B;B;B	0.25405	0.02;0.06;0.03;0.028;0.02	T	0.51733	-0.8668	10	0.02654	T	1	-17.3478	16.2853	0.82717	0.0:0.0:0.0:1.0	.	806;764;782;732;806	A9LNM6;Q6UVM3-4;Q6UVM3-2;Q6UVM3-3;Q6UVM3	.;.;.;.;KCNT2_HUMAN	S	782;732;806	ENSP00000356403:T782S;ENSP00000356401:T732S;ENSP00000294725:T806S	ENSP00000294725:T806S	T	-	1	0	KCNT2	194551712	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	6.194000	0.72082	2.236000	0.73375	0.528000	0.53228	ACC		0.433	KCNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086418.2	NM_198503		14	23	0	0	0	0.003163	0	14	23					A	196285089	T	A	196285089	3	1	162	1	0	0	0	0	1	0	0	0	8092	1696	59	5	1023	5	KCNT2	1	196285089	Missense_Mutation	SNP	T	TCGA-G9-6361-01A-21D-1961-08	40393396	196285089	52965532	4	7778											
KCNT2	343450	broad.mit.edu	37	chr1	196398768	196398768	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctacaaaaagcttggaggacCatgtttcaggagtgacatcc	13	9	10	9	0	1	1	1	1	0	0	2	4	2	4	2	3	2	2	2	3	3	3			TCGA-G9-6361-01A-21D-1961-08	TCGA-G9-6361-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae721ffe-45da-4029-bcbd-6e218f607de2	1977a26b-0d18-495c-8a57-ac73a2953e90	g.chr1:196398768C>A	ENST00000294725.9	-	9	1673	c.758G>T	c.(757-759)tGg>tTg	p.W253L	KCNT2_ENST00000367431.4_Missense_Mutation_p.W253L|KCNT2_ENST00000498426.1_5'UTR|KCNT2_ENST00000367433.5_Missense_Mutation_p.W253L|KCNT2_ENST00000451324.2_Intron|KCNT2_ENST00000609185.1_Missense_Mutation_p.W253L			Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	253					potassium ion transmembrane transport (GO:0071805)	voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|calcium-activated potassium channel activity (GO:0015269)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						CTTGGAGGACCATGTTTCAGG	0.408																																						ENST00000367433.5																			0				NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						c.(757-759)tGg>tTg		potassium channel, subfamily T, member 2							120	105	110					1																	196398768		2203	4300	6503	SO:0001583	missense	343450					voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity	g.chr1:196398768C>A	BX647852, AY359444, AK127807	CCDS1384.1, CCDS72994.1, CCDS72995.1	1q31.3	2012-07-05			ENSG00000162687	ENSG00000162687		"Potassium channels", "Voltage-gated ion channels / Potassium channels, calcium-activated"	18866	protein-coding gene	gene with protein product	"sodium and chloride activated ATP sensitive potassium channel"	610044				16382103	Standard	NM_198503		Approved	KCa4.2, SLICK, SLO2.1	uc001gtd.1	Q6UVM3	OTTHUMG00000035611	ENST00000294725.9:c.758G>T	1.37:g.196398768C>A	ENSP00000294725:p.Trp253Leu					KCNT2_ENST00000367431.4_Missense_Mutation_p.W253L|KCNT2_ENST00000451324.2_Intron|KCNT2_ENST00000498426.1_5'UTR|KCNT2_ENST00000294725.8_Missense_Mutation_p.W253L	p.W253L			Q6UVM3	KCNT2_HUMAN			9	859	-			253					Q3SY59|Q5VTN1|Q6ZMT3	Missense_Mutation	SNP	ENST00000294725.9	37	c.758G>T	CCDS1384.1	.	.	.	.	.	.	.	.	.	.	C	16.68	3.190536	0.58017	.	.	ENSG00000162687	ENST00000367433;ENST00000367431;ENST00000535608;ENST00000294725	T;T;T	0.22134	1.97;1.97;1.97	5.31	4.34	0.51931	Ion transport 2 (1);	0.273852	0.26522	N	0.023903	T	0.22166	0.0534	L	0.47016	1.485	0.80722	D	1	P;B;B;P	0.36990	0.577;0.327;0.352;0.577	B;B;B;B	0.37304	0.246;0.115;0.138;0.246	T	0.03717	-1.1010	10	0.27082	T	0.32	-9.8035	17.5464	0.87863	0.0:0.8658:0.1342:0.0	.	253;253;253;253	A9LNM6;Q6UVM3-2;Q6UVM3-3;Q6UVM3	.;.;.;KCNT2_HUMAN	L	253;253;74;253	ENSP00000356403:W253L;ENSP00000356401:W253L;ENSP00000294725:W253L	ENSP00000294725:W253L	W	-	2	0	KCNT2	194665391	1.000000	0.71417	0.998000	0.56505	0.999000	0.98932	6.095000	0.71439	2.487000	0.83934	0.655000	0.94253	TGG		0.408	KCNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086418.2	NM_198503		15	28	1	0	4.14922e-12	0.004007	5.60913e-12	15	28					A	196398768	C	A	196398768	3	1	162	1	0	0	0	0	1	0	0	0	8092	595	21	5	2729	5	KCNT2	1	196398768	Missense_Mutation	SNP	C	TCGA-G9-6361-01A-21D-1961-08	113679	196398768	52851853	5	7779											
IL20	50604	broad.mit.edu	37	chr1	207040805	207040805	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tctgagtcactttgaaaaggTatatgcgactttggcattga	11	14	10	6	1	2	3	1	3	1	0	2	4	2	3	0	2	1	2	0	2	4	5			TCGA-G9-6361-01A-21D-1961-08	TCGA-G9-6361-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae721ffe-45da-4029-bcbd-6e218f607de2	1977a26b-0d18-495c-8a57-ac73a2953e90	g.chr1:207040805T>C	ENST00000367098.1	+	5	816		c.e5+2		IL20_ENST00000391930.2_Intron|IL20_ENST00000367096.3_Splice_Site			Q9UHF5	IL17B_HUMAN	interleukin 20						cell-cell signaling (GO:0007267)|immune response (GO:0006955)|inflammatory response (GO:0006954)|positive regulation of cytokine production involved in inflammatory response (GO:1900017)	extracellular space (GO:0005615)	cytokine activity (GO:0005125)			endometrium(2)|large_intestine(3)|lung(2)|pancreas(1)|urinary_tract(1)	9	Breast(84;0.201)			OV - Ovarian serous cystadenocarcinoma(81;0.00459)		TTTGAAAAGGTATATGCGACT	0.428																																						ENST00000367098.1																			0				endometrium(2)|large_intestine(3)|lung(2)|pancreas(1)|urinary_tract(1)	9						c.e5+2		interleukin 20							190	179	183					1																	207040805		2203	4300	6503	SO:0001630	splice_region_variant	50604				positive regulation of keratinocyte differentiation|positive regulation of tyrosine phosphorylation of Stat3 protein|regulation of inflammatory response	extracellular space	cytokine activity|interleukin-20 receptor binding	g.chr1:207040805T>C	AF224266	CCDS1470.1	1q32	2008-02-05			ENSG00000162891	ENSG00000162891		"Interleukins and interleukin receptors"	6002	protein-coding gene	gene with protein product		605619				11163236	Standard	NM_018724		Approved	ZCYTO10, IL10D, IL-20	uc001her.3	Q9NYY1	OTTHUMG00000036456	ENST00000367098.1:c.453+2T>C	1.37:g.207040805T>C						IL20_ENST00000367096.3_Splice_Site|IL20_ENST00000391930.2_Intron				Q9NYY1	IL20_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.00459)	5	816	+	Breast(84;0.201)							Q14CE5	Splice_Site	SNP	ENST00000367098.1	37		CCDS1470.1	.	.	.	.	.	.	.	.	.	.	T	11.80	1.746147	0.30955	.	.	ENSG00000162891	ENST00000367098;ENST00000367096	.	.	.	5.62	5.62	0.85841	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.2456	0.54568	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	IL20	205107428	1.000000	0.71417	0.866000	0.34008	0.222000	0.24845	4.309000	0.59135	2.141000	0.66446	0.528000	0.53228	.		0.428	IL20-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088676.1	NM_018724	Intron	3	70	0	0	0	0.004672	0	3	70					C	207040805	T	C	207040805	5	2	162	1	0	0	0	0	0	0	1	0	7667	1652	57	4	469	4	IL20	1	207040805	Splice_Site	SNP	T	TCGA-G9-6361-01A-21D-1961-08	10642037	207040805	42209816	6	7780											
TCF7L1	83439	broad.mit.edu	37	chr2	85533435	85533435	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	agatgagggccaaggtggtgGctgagtgcaccctgaaggaa	11	6	17	7	0	0	4	0	3	0	1	0	5	0	5	2	5	1	2	2	5	3	0			TCGA-G9-6361-01A-21D-1961-08	TCGA-G9-6361-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae721ffe-45da-4029-bcbd-6e218f607de2	1977a26b-0d18-495c-8a57-ac73a2953e90	g.chr2:85533435G>A	ENST00000282111.3	+	9	1371	c.1096G>A	c.(1096-1098)Gct>Act	p.A366T		NM_031283.2	NP_112573.1	Q9HCS4	TF7L1_HUMAN	transcription factor 7-like 1 (T-cell specific, HMG-box)	366					anterior/posterior axis specification, embryo (GO:0008595)|axial mesoderm morphogenesis (GO:0048319)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|chromatin organization (GO:0006325)|generation of neurons (GO:0048699)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter during mitosis (GO:0046022)|regulation of stem cell maintenance (GO:2000036)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|regulation of Wnt signaling pathway (GO:0030111)|skin development (GO:0043588)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|skin(4)|upper_aerodigestive_tract(1)	18						CAAGGTGGTGGCTGAGTGCAC	0.542																																						ENST00000282111.3																			0				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|skin(4)|upper_aerodigestive_tract(1)	18						c.(1096-1098)Gct>Act		transcription factor 7-like 1 (T-cell specific, HMG-box)							135	120	125					2																	85533435		2203	4300	6503	SO:0001583	missense	83439				chromatin organization|regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:85533435G>A	X62870	CCDS1971.1	2p11.2	2008-02-05			ENSG00000152284	ENSG00000152284			11640	protein-coding gene	gene with protein product		604652		TCF3		1741298, 11085512	Standard	NM_031283		Approved		uc002soy.3	Q9HCS4	OTTHUMG00000130026	ENST00000282111.3:c.1096G>A	2.37:g.85533435G>A	ENSP00000282111:p.Ala366Thr						p.A366T	NM_031283.2	NP_112573.1	Q9HCS4	TF7L1_HUMAN			9	1371	+			366					Q53R97|Q6PD70|Q9NP00	Missense_Mutation	SNP	ENST00000282111.3	37	c.1096G>A	CCDS1971.1	.	.	.	.	.	.	.	.	.	.	G	26.3	4.723047	0.89298	.	.	ENSG00000152284	ENST00000282111	D	0.98296	-4.85	5.17	5.17	0.71159	High mobility group, superfamily (1);High mobility group, HMG1/HMG2 (4);	0.000000	0.85682	D	0.000000	D	0.98767	0.9585	M	0.76170	2.325	0.58432	D	0.999999	D	0.76494	0.999	D	0.85130	0.997	D	0.99851	1.1072	10	0.87932	D	0	.	16.1638	0.81739	0.0:0.0:1.0:0.0	.	366	Q9HCS4	TF7L1_HUMAN	T	366	ENSP00000282111:A366T	ENSP00000282111:A366T	A	+	1	0	TCF7L1	85386946	1.000000	0.71417	1.000000	0.80357	0.901000	0.52897	9.852000	0.99516	2.410000	0.81850	0.591000	0.81541	GCT		0.542	TCF7L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252301.2	NM_031283		11	72	0	0	0	0.000978	0	11	72					A	85533435	G	A	85533435	3	1	162	1	0	0	0	0	1	0	0	0	15694	1203	42	3	1130	3	TCF7L1	2	85533435	Missense_Mutation	SNP	G	TCGA-G9-6361-01A-21D-1961-08		85533435	157665938	7	7781											
SACM1L	22908	broad.mit.edu	37	chr3	45776852	45776852	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttagctcgtcgttcacttcAggcccaacttcaggtgcgaa	8	11	10	12	3	3	0	3	0	0	0	5	1	3	0	1	2	3	3	1	2	3	4			TCGA-G9-6361-01A-21D-1961-08	TCGA-G9-6361-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae721ffe-45da-4029-bcbd-6e218f607de2	1977a26b-0d18-495c-8a57-ac73a2953e90	g.chr3:45776852A>G	ENST00000389061.5	+	14	1430	c.1226A>G	c.(1225-1227)cAg>cGg	p.Q409R	SACM1L_ENST00000541314.1_Missense_Mutation_p.Q348R|SACM1L_ENST00000418611.1_Missense_Mutation_p.Q306R	NM_014016.3	NP_054735.3	Q9NTJ5	SAC1_HUMAN	SAC1 suppressor of actin mutations 1-like (yeast)	409	SAC. {ECO:0000255|PROSITE- ProRule:PRU00183}.				phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of endoplasmic reticulum membrane (GO:0030176)	phosphatase activity (GO:0016791)|phosphatidylinositol bisphosphate phosphatase activity (GO:0034593)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphatidylinositol-4-phosphate phosphatase activity (GO:0043812)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)	23				BRCA - Breast invasive adenocarcinoma(193;0.0102)|KIRC - Kidney renal clear cell carcinoma(197;0.0234)|Kidney(197;0.0277)		CGTTCACTTCAGGCCCAACTT	0.383																																						ENST00000389061.5																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)	23						c.(1225-1227)cAg>cGg		SAC1 suppressor of actin mutations 1-like (yeast)							141	121	128					3																	45776852		2203	4300	6503	SO:0001583	missense	22908					Golgi apparatus		g.chr3:45776852A>G	AB020658	CCDS33745.1	3p21.3	2010-03-11			ENSG00000211456	ENSG00000211456			17059	protein-coding gene	gene with protein product		606569				10048485, 11352561	Standard	NM_014016		Approved	SAC1, KIAA0851	uc003cos.2	Q9NTJ5	OTTHUMG00000156653	ENST00000389061.5:c.1226A>G	3.37:g.45776852A>G	ENSP00000373713:p.Gln409Arg					SACM1L_ENST00000541314.1_Missense_Mutation_p.Q348R|SACM1L_ENST00000418611.1_Missense_Mutation_p.Q306R	p.Q409R	NM_014016.3	NP_054735.3	Q9NTJ5	SAC1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.0102)|KIRC - Kidney renal clear cell carcinoma(197;0.0234)|Kidney(197;0.0277)	14	1430	+			409			SAC.		A8K527|B4DK71|O94935|Q7LA14|Q7LA22|Q96AX7|Q9NQ46|Q9NQ57	Missense_Mutation	SNP	ENST00000389061.5	37	c.1226A>G	CCDS33745.1	.	.	.	.	.	.	.	.	.	.	A	19.42	3.824629	0.71143	.	.	ENSG00000211456	ENST00000418611;ENST00000389061;ENST00000541314;ENST00000433336	T;T;T;T	0.22134	1.97;1.97;1.97;1.97	5.86	5.86	0.93980	Synaptojanin, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.34890	0.0913	L	0.52266	1.64	0.58432	D	0.999999	P;P;P	0.50443	0.83;0.935;0.692	B;P;B	0.55508	0.402;0.777;0.258	T	0.01524	-1.1333	10	0.31617	T	0.26	-3.0607	16.2612	0.82547	1.0:0.0:0.0:0.0	.	348;52;409	B4DK71;B3KX17;Q9NTJ5	.;.;SAC1_HUMAN	R	306;409;348;86	ENSP00000396387:Q306R;ENSP00000373713:Q409R;ENSP00000443373:Q348R;ENSP00000412883:Q86R	ENSP00000373713:Q409R	Q	+	2	0	SACM1L	45751856	1.000000	0.71417	0.998000	0.56505	0.995000	0.86356	8.962000	0.93254	2.244000	0.73946	0.477000	0.44152	CAG		0.383	SACM1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345065.2	NM_014016		3	80	0	0	0	0.009096	0	3	80					G	45776852	A	G	45776852	3	3	162	1	0	0	0	0	1	0	0	0	13803	188	7	4	1280	4	SACM1L	3	45776852	Missense_Mutation	SNP	A	TCGA-G9-6361-01A-21D-1961-08		45776852	152245578	8	7782											
DHX30	22907	broad.mit.edu	37	chr3	47884611	47884611	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtagaacctcatgcagttcCatactgtgggcaccaagacc	11	9	9	12	0	1	2	1	0	0	2	2	2	2	2	4	1	3	4	4	1	4	3			TCGA-G9-6361-01A-21D-1961-08	TCGA-G9-6361-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae721ffe-45da-4029-bcbd-6e218f607de2	1977a26b-0d18-495c-8a57-ac73a2953e90	g.chr3:47884611C>G	ENST00000445061.1	+	9	1212	c.805C>G	c.(805-807)Cat>Gat	p.H269D	DHX30_ENST00000446256.2_Missense_Mutation_p.H230D|DHX30_ENST00000457607.1_Missense_Mutation_p.H297D|DHX30_ENST00000348968.4_Missense_Mutation_p.H241D	NM_138615.2	NP_619520.1	Q7L2E3	DHX30_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 30	269						cytoplasm (GO:0005737)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|chromatin binding (GO:0003682)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)			endometrium(3)|kidney(1)|large_intestine(11)|lung(13)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	37				BRCA - Breast invasive adenocarcinoma(193;0.000696)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)		CATGCAGTTCCATACTGTGGG	0.537																																						ENST00000446256.2																			0				endometrium(3)|kidney(1)|large_intestine(11)|lung(13)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	37						c.(688-690)Cat>Gat		DEAH (Asp-Glu-Ala-His) box helicase 30							163	151	155					3																	47884611		2203	4300	6503	SO:0001583	missense	22907					mitochondrial nucleoid	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding	g.chr3:47884611C>G	AB020697	CCDS2759.1	3p24.3-p22.1	2013-07-16	2013-07-16	2003-06-13	ENSG00000132153	ENSG00000132153		"DEAH-boxes"	16716	protein-coding gene	gene with protein product			"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 30", "DEAH (Asp-Glu-Ala-His) box polypeptide 30"	DDX30		10048485, 18022663	Standard	NM_138615		Approved	KIAA0890, FLJ11214	uc003cru.3	Q7L2E3	OTTHUMG00000133522	ENST00000445061.1:c.805C>G	3.37:g.47884611C>G	ENSP00000405620:p.His269Asp					DHX30_ENST00000348968.4_Missense_Mutation_p.H241D|DHX30_ENST00000457607.1_Missense_Mutation_p.H297D|DHX30_ENST00000445061.1_Missense_Mutation_p.H269D	p.H230D	NM_014966.3	NP_055781.2	Q7L2E3	DHX30_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000696)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)	10	1260	+			269					A8K5F1|O94965|Q7Z753|Q96CH4|Q9NUQ0	Missense_Mutation	SNP	ENST00000445061.1	37	c.688C>G	CCDS2759.1	.	.	.	.	.	.	.	.	.	.	C	15.48	2.846876	0.51164	.	.	ENSG00000132153	ENST00000446256;ENST00000445061;ENST00000348968;ENST00000457607	T;T;T;T	0.03124	4.06;4.05;4.06;4.04	5.26	5.26	0.73747	.	0.206113	0.42420	D	0.000710	T	0.06234	0.0161	L	0.46157	1.445	0.36256	D	0.854257	B;B	0.22604	0.072;0.056	B;B	0.20767	0.031;0.029	T	0.18555	-1.0333	10	0.66056	D	0.02	.	17.8623	0.88784	0.0:1.0:0.0:0.0	.	269;230	Q7L2E3;Q7L2E3-3	DHX30_HUMAN;.	D	230;269;241;297	ENSP00000392601:H230D;ENSP00000405620:H269D;ENSP00000343442:H241D;ENSP00000394682:H297D	ENSP00000343442:H241D	H	+	1	0	DHX30	47859615	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.496000	0.53288	2.451000	0.82905	0.591000	0.81541	CAT		0.537	DHX30-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257495.2	NM_138615		56	143	0	0	0	0.00361	0	56	143					G	47884611	C	G	47884611	3	3	162	1	0	0	0	0	1	0	0	0	4504	594	21	5	842	5	DHX30	3	47884611	Missense_Mutation	SNP	C	TCGA-G9-6361-01A-21D-1961-08	2107759	47884611	150137819	9	7783											
ARL6	84100	broad.mit.edu	37	chr3	97499479	97499479	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttgtcatttacagtgtttgAcatgtcaggtcaaggaagat	11	15	10	5	0	3	2	3	1	0	1	3	3	3	3	0	2	1	1	0	2	3	4			TCGA-G9-6361-01A-21D-1961-08	TCGA-G9-6361-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae721ffe-45da-4029-bcbd-6e218f607de2	1977a26b-0d18-495c-8a57-ac73a2953e90	g.chr3:97499479A>G	ENST00000463745.1	+	4	683	c.206A>G	c.(205-207)gAc>gGc	p.D69G	ARL6_ENST00000394206.1_Missense_Mutation_p.D69G|ARL6_ENST00000496713.1_3'UTR|ARL6_ENST00000335979.2_Missense_Mutation_p.D69G	NM_001278293.1	NP_001265222.1	Q9H0F7	ARL6_HUMAN	ADP-ribosylation factor-like 6	69					cilium assembly (GO:0042384)|determination of left/right symmetry (GO:0007368)|fat cell differentiation (GO:0045444)|melanosome transport (GO:0032402)|protein polymerization (GO:0051258)|protein targeting to membrane (GO:0006612)|small GTPase mediated signal transduction (GO:0007264)|visual perception (GO:0007601)|Wnt signaling pathway (GO:0016055)	axonemal microtubule (GO:0005879)|axoneme (GO:0005930)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|membrane coat (GO:0030117)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|metal ion binding (GO:0046872)|phospholipid binding (GO:0005543)			large_intestine(1)|lung(4)	5		Lung NSC(201;0.0193)|Prostate(884;0.174)		LUSC - Lung squamous cell carcinoma(29;0.0118)|Lung(72;0.0189)		ACAGTGTTTGACATGTCAGGT	0.269																																						ENST00000463745.1																			0				large_intestine(1)|lung(4)	5						c.(205-207)gAc>gGc		ADP-ribosylation factor-like 6							148	153	152					3																	97499479		2203	4295	6498	SO:0001583	missense	84100				cilium assembly|determination of left/right symmetry|melanosome transport|protein polymerization|protein targeting to membrane|small GTPase mediated signal transduction|visual perception|Wnt receptor signaling pathway	axonemal microtubule|cilium axoneme|cilium membrane|membrane coat|microtubule basal body	GTP binding|metal ion binding|phospholipid binding|protein binding	g.chr3:97499479A>G	BC024239	CCDS2928.1	3q11.2	2014-05-09			ENSG00000113966	ENSG00000113966		"ADP-ribosylation factors-like", "ADP-ribosylation factors"	13210	protein-coding gene	gene with protein product		608845		BBS3		15258860, 15314642, 21282186	Standard	NM_032146		Approved	RP55	uc003drv.3	Q9H0F7	OTTHUMG00000159189	ENST00000463745.1:c.206A>G	3.37:g.97499479A>G	ENSP00000419619:p.Asp69Gly					ARL6_ENST00000394206.1_Missense_Mutation_p.D69G|ARL6_ENST00000335979.2_Missense_Mutation_p.D69G|ARL6_ENST00000496713.1_3'UTR	p.D69G	NM_001278293.1	NP_001265222.1	Q9H0F7	ARL6_HUMAN		LUSC - Lung squamous cell carcinoma(29;0.0118)|Lung(72;0.0189)	4	683	+		Lung NSC(201;0.0193)|Prostate(884;0.174)	69					A8KA93|D3DN31	Missense_Mutation	SNP	ENST00000463745.1	37	c.206A>G	CCDS2928.1	.	.	.	.	.	.	.	.	.	.	A	25.0	4.596909	0.87055	.	.	ENSG00000113966	ENST00000463745;ENST00000462412;ENST00000335979;ENST00000394206	D;D;D;D	0.95656	-3.77;-3.77;-3.77;-3.77	5.34	5.34	0.76211	Small GTP-binding protein domain (1);	0.042277	0.85682	D	0.000000	D	0.98858	0.9614	H	0.99573	4.635	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99274	1.0894	10	0.87932	D	0	.	15.2838	0.73810	1.0:0.0:0.0:0.0	.	69	Q9H0F7	ARL6_HUMAN	G	69	ENSP00000419619:D69G;ENSP00000418740:D69G;ENSP00000337722:D69G;ENSP00000377756:D69G	ENSP00000337722:D69G	D	+	2	0	ARL6	98982169	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	8.838000	0.92115	2.150000	0.67090	0.519000	0.50382	GAC		0.269	ARL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353756.1	NM_032146		3	85	0	0	0	0.009096	0	3	85					G	97499479	A	G	97499479	3	3	162	1	0	0	0	0	1	0	0	0	941	275	10	4	216	4	ARL6	3	97499479	Missense_Mutation	SNP	A	TCGA-G9-6361-01A-21D-1961-08	49614868	97499479	100522951	10	7784											
A4GNT	51146	broad.mit.edu	37	chr3	137849815	137849815	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atgtggagtttgagggcatcGgtgtggaatcagtaagaccc	10	10	15	6	1	1	2	1	1	0	1	2	4	1	4	1	4	0	3	1	4	2	2	rs145157166	byFrequency	TCGA-G9-6361-01A-21D-1961-08	TCGA-G9-6361-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae721ffe-45da-4029-bcbd-6e218f607de2	1977a26b-0d18-495c-8a57-ac73a2953e90	g.chr3:137849815G>A	ENST00000236709.3	-	2	485	c.284C>T	c.(283-285)cCg>cTg	p.P95L		NM_016161.2	NP_057245.1	Q9UNA3	A4GCT_HUMAN	alpha-1,4-N-acetylglucosaminyltransferase	95					carbohydrate metabolic process (GO:0005975)|glycoprotein biosynthetic process (GO:0009101)|negative regulation of epithelial cell proliferation (GO:0050680)|protein O-linked glycosylation (GO:0006493)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	acetylglucosaminyltransferase activity (GO:0008375)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)	16						TGAGGGCATCGGTGTGGAATC	0.478													G|||	5	0.000998403	0	0.0043	5008	,	,		20927	0.001		0.001	False		,,,				2504	0					ENST00000236709.3																			0				breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)	16						c.(283-285)cCg>cTg		alpha-1,4-N-acetylglucosaminyltransferase		G	LEU/PRO	0,4406		0,0,2203	116	118	117		284	-5.3	0	3	dbSNP_134	117	9,8591	7.1+/-27.0	0,9,4291	yes	missense	A4GNT	NM_016161.2	98	0,9,6494	AA,AG,GG		0.1047,0.0,0.0692	benign	95/341	137849815	9,12997	2203	4300	6503	SO:0001583	missense	51146				protein O-linked glycosylation	Golgi membrane|Golgi stack|integral to membrane|membrane fraction	acetylglucosaminyltransferase activity|galactosyltransferase activity	g.chr3:137849815G>A	AF141315	CCDS3097.1	3p14.3	2010-12-14			ENSG00000118017	ENSG00000118017			17968	protein-coding gene	gene with protein product						10430883	Standard	NM_016161		Approved	alpha4GnT	uc003ers.2	Q9UNA3	OTTHUMG00000159820	ENST00000236709.3:c.284C>T	3.37:g.137849815G>A	ENSP00000236709:p.Pro95Leu						p.P95L	NM_016161.2	NP_057245.1	Q9UNA3	A4GCT_HUMAN			2	485	-			95					Q0VDK1|Q0VDK2	Missense_Mutation	SNP	ENST00000236709.3	37	c.284C>T	CCDS3097.1	2	9.157509157509158E-4	0	0.0	1	0.0027624309392265192	0	0.0	1	0.0013192612137203166	G	0.559	-0.846139	0.02671	0.0	0.001047	ENSG00000118017	ENST00000236709	T	0.80033	-1.33	5.27	-5.33	0.02713	Glycosyltransferase, DXD sugar-binding motif (1);	1.430170	0.04722	N	0.419576	T	0.55097	0.1899	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.35025	-0.9805	10	0.27785	T	0.31	-0.6497	0.873	0.01218	0.3856:0.1929:0.2603:0.1612	.	95	Q9UNA3	A4GCT_HUMAN	L	95	ENSP00000236709:P95L	ENSP00000236709:P95L	P	-	2	0	A4GNT	139332505	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-0.727000	0.04931	-1.399000	0.02063	-2.566000	0.00172	CCG		0.478	A4GNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357557.1	NM_016161		52	70	0	0	0	0.00361	0	52	70					A	137849815	G	A	137849815	3	1	162	1	0	0	0	0	1	0	0	0	7	1116	39	2	746	2	A4GNT	3	137849815	Missense_Mutation	SNP	G	TCGA-G9-6361-01A-21D-1961-08	40350336	137849815	60172615	11	7785											
GK5	256356	broad.mit.edu	37	chr3	141896383	141896383	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	agaatcctccaaacttttggCcattttttcagtctcagcag	10	14	6	11	0	2	1	2	0	1	1	5	1	4	1	3	1	2	1	3	1	2	5			TCGA-G9-6361-01A-21D-1961-08	TCGA-G9-6361-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae721ffe-45da-4029-bcbd-6e218f607de2	1977a26b-0d18-495c-8a57-ac73a2953e90	g.chr3:141896383C>A	ENST00000392993.2	-	12	1235	c.1084G>T	c.(1084-1086)Gcc>Tcc	p.A362S		NM_001039547.2	NP_001034636.1	Q6ZS86	GLPK5_HUMAN	glycerol kinase 5 (putative)	362					glycerol catabolic process (GO:0019563)		ATP binding (GO:0005524)|glycerol kinase activity (GO:0004370)			kidney(1)|large_intestine(1)|lung(7)|urinary_tract(1)	10						AAACTTTTGGCCATTTTTTCA	0.333																																						ENST00000392993.2																			0				kidney(1)|large_intestine(1)|lung(7)|urinary_tract(1)	10						c.(1084-1086)Gcc>Tcc		glycerol kinase 5 (putative)							117	124	122					3																	141896383		2203	4300	6503	SO:0001583	missense	256356				glycerol metabolic process		ATP binding|glycerol kinase activity	g.chr3:141896383C>A	BX648681	CCDS33871.1	3q23	2014-02-12	2006-09-21		ENSG00000175066	ENSG00000175066		"Glycerol kinases"	28635	protein-coding gene	gene with protein product						12477932	Standard	NM_001039547		Approved	MGC40579	uc003euq.2	Q6ZS86	OTTHUMG00000133572	ENST00000392993.2:c.1084G>T	3.37:g.141896383C>A	ENSP00000418001:p.Ala362Ser						p.A362S	NM_001039547.2	NP_001034636.1	Q6ZS86	GLPK5_HUMAN			12	1235	-			362					B2R9I2|D3DNG2|Q8N2A7|Q8N5E6	Missense_Mutation	SNP	ENST00000392993.2	37	c.1084G>T	CCDS33871.1	.	.	.	.	.	.	.	.	.	.	C	28.4	4.914354	0.92178	.	.	ENSG00000175066	ENST00000392993;ENST00000486459	D;D	0.86769	-2.17;-2.17	5.3	5.3	0.74995	Carbohydrate kinase, FGGY, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.95076	0.8405	M	0.92459	3.31	0.80722	D	1	D	0.76494	0.999	D	0.73380	0.98	D	0.95944	0.8949	10	0.87932	D	0	-12.9926	18.0879	0.89463	0.0:1.0:0.0:0.0	.	362	Q6ZS86	GLPK5_HUMAN	S	362;16	ENSP00000418001:A362S;ENSP00000420593:A16S	ENSP00000418001:A362S	A	-	1	0	GK5	143379073	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.532000	0.73825	2.631000	0.89168	0.585000	0.79938	GCC		0.333	GK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353999.1	NM_001039547		13	107	1	0	6.31663e-08	0.003163	8.38389e-08	13	107					A	141896383	C	A	141896383	3	1	162	1	0	0	0	0	1	0	0	0	6422	739	26	5	525	5	GK5	3	141896383	Missense_Mutation	SNP	C	TCGA-G9-6361-01A-21D-1961-08	4046568	141896383	56126047	12	7786											
JAKMIP1	152789	broad.mit.edu	37	chr4	6107489	6107489	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgttcagcgtggcctgcagcCgctgcagctcgccctccttg	3	9	12	17	4	1	0	1	0	0	0	3	0	2	0	4	1	5	5	4	1	0	2			TCGA-G9-6361-01A-21D-1961-08	TCGA-G9-6361-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae721ffe-45da-4029-bcbd-6e218f607de2	1977a26b-0d18-495c-8a57-ac73a2953e90	g.chr4:6107489C>T	ENST00000282924.5	-	3	820	c.335G>A	c.(334-336)cGg>cAg	p.R112Q	JAKMIP1_ENST00000410077.2_Intron|JAKMIP1_ENST00000409021.3_Missense_Mutation_p.R112Q|JAKMIP1_ENST00000409831.1_Missense_Mutation_p.R112Q|JAKMIP1_ENST00000457227.2_Intron|JAKMIP1_ENST00000409371.3_Intron	NM_144720.3	NP_653321.1	Q96N16	JKIP1_HUMAN	janus kinase and microtubule interacting protein 1	112	Mediates association with microtubules.				cognition (GO:0050890)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|extrinsic component of membrane (GO:0019898)|microtubule (GO:0005874)|ribonucleoprotein complex (GO:0030529)	GABA receptor binding (GO:0050811)|RNA binding (GO:0003723)			NS(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						GGCCTGCAGCCGCTGCAGCTC	0.716																																						ENST00000409021.3																			0				NS(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						c.(334-336)cGg>cAg		janus kinase and microtubule interacting protein 1							12	13	13					4																	6107489		2093	4139	6232	SO:0001583	missense	152789				protein transport	cytoplasm|membrane|microtubule|peripheral to membrane of membrane fraction|ribonucleoprotein complex	GABA receptor binding|RNA binding	g.chr4:6107489C>T	AK056126	CCDS3385.1, CCDS47005.1	4p16.1	2013-10-11	2009-08-13		ENSG00000152969	ENSG00000152969			26460	protein-coding gene	gene with protein product		611195				18941173	Standard	NM_144720		Approved	MARLIN1, JAMIP1, Gababrbp, FLJ31564	uc010idb.1	Q96N16	OTTHUMG00000125491	ENST00000282924.5:c.335G>A	4.37:g.6107489C>T	ENSP00000282924:p.Arg112Gln					JAKMIP1_ENST00000457227.2_Intron|JAKMIP1_ENST00000410077.2_Intron|JAKMIP1_ENST00000409371.3_Intron|JAKMIP1_ENST00000282924.5_Missense_Mutation_p.R112Q|JAKMIP1_ENST00000409831.1_Missense_Mutation_p.R112Q	p.R112Q	NM_001099433.1	NP_001092903.1	Q96N16	JKIP1_HUMAN			3	784	-			112			Mediates association with microtubules.		A6H2J2|A6H2J3|A6H2J4|A6H2J5|A8MTK6|B4DHZ8|B8ZZR7|D3DVT0|Q86Y69|Q8N7G3	Missense_Mutation	SNP	ENST00000282924.5	37	c.335G>A	CCDS3385.1	.	.	.	.	.	.	.	.	.	.	C	28.2	4.898198	0.91962	.	.	ENSG00000152969	ENST00000409021;ENST00000418227;ENST00000425341;ENST00000282924;ENST00000409831	T;T;T	0.37752	1.18;1.18;1.18	4.6	3.73	0.42828	.	0.000000	0.64402	D	0.000004	T	0.58680	0.2139	M	0.80422	2.495	0.80722	D	1	D;D;D	0.89917	0.998;0.994;1.0	P;P;D	0.81914	0.786;0.566;0.995	T	0.58775	-0.7577	10	0.27082	T	0.32	.	13.1875	0.59691	0.1608:0.8392:0.0:0.0	.	112;112;112	F2Z2K5;Q96N16-2;Q96N16	.;.;JKIP1_HUMAN	Q	112	ENSP00000386711:R112Q;ENSP00000282924:R112Q;ENSP00000386925:R112Q	ENSP00000282924:R112Q	R	-	2	0	JAKMIP1	6158390	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.334000	0.79224	1.009000	0.39289	0.484000	0.47621	CGG		0.716	JAKMIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246816.2	NM_144720		6	23	0	0	0	0.001168	0	6	23					T	6107489	C	T	6107489	3	4	162	1	0	0	0	0	1	0	0	0	7940	652	23	2	2311	2	JAKMIP1	4	6107489	Missense_Mutation	SNP	C	TCGA-G9-6361-01A-21D-1961-08		6107489	185046787	13	7787											
FRYL	285527	broad.mit.edu	37	chr4	48611011	48611011	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttacaaaacttactttgattGggcaagaacccctatcacct	13	12	5	11	0	1	2	1	1	0	1	1	2	1	2	3	1	4	1	3	1	7	5			TCGA-G9-6361-01A-21D-1961-08	TCGA-G9-6361-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae721ffe-45da-4029-bcbd-6e218f607de2	1977a26b-0d18-495c-8a57-ac73a2953e90	g.chr4:48611011G>A	ENST00000503238.1	-	6	564	c.565C>T	c.(565-567)Caa>Taa	p.Q189*	FRYL_ENST00000507711.1_Nonsense_Mutation_p.Q189*|FRYL_ENST00000537810.1_Nonsense_Mutation_p.Q189*|FRYL_ENST00000358350.4_Nonsense_Mutation_p.Q189*|FRYL_ENST00000264319.7_5'UTR			O94915	FRYL_HUMAN	FRY-like	189					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)					breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						TACTTTGATTGGGCAAGAACC	0.323																																						ENST00000358350.4																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						c.(565-567)Caa>Taa		FRY-like							108	101	103					4																	48611011		1830	4085	5915	SO:0001587	stop_gained	285527				regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding	g.chr4:48611011G>A	AL833170	CCDS43227.1	4p12	2011-08-03	2006-11-17	2005-11-24	ENSG00000075539	ENSG00000075539			29127	protein-coding gene	gene with protein product			"KIAA0826", "furry homolog-like (Drosophila)"	KIAA0826		10048485	Standard	NM_015030		Approved	DKFZp686E205	uc003gyh.1	O94915	OTTHUMG00000160608	ENST00000503238.1:c.565C>T	4.37:g.48611011G>A	ENSP00000426064:p.Gln189*					FRYL_ENST00000503238.1_Nonsense_Mutation_p.Q189*|FRYL_ENST00000537810.1_Nonsense_Mutation_p.Q189*|FRYL_ENST00000264319.7_5'UTR|FRYL_ENST00000507711.1_Nonsense_Mutation_p.Q189*	p.Q189*	NM_015030.1	NP_055845.1	O94915	FRYL_HUMAN			9	1169	-			189					O95640|Q8WTZ5|Q9NT40	Nonsense_Mutation	SNP	ENST00000503238.1	37	c.565C>T	CCDS43227.1	.	.	.	.	.	.	.	.	.	.	G	41	9.146372	0.99080	.	.	ENSG00000075539	ENST00000503238;ENST00000358350;ENST00000537810;ENST00000507711	.	.	.	5.79	5.79	0.91817	.	0.085856	0.47852	U	0.000201	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.31617	T	0.26	.	20.0155	0.97477	0.0:0.0:1.0:0.0	.	.	.	.	X	189	.	ENSP00000351113:Q189X	Q	-	1	0	FRYL	48305768	1.000000	0.71417	1.000000	0.80357	0.557000	0.35523	9.813000	0.99286	2.742000	0.94016	0.591000	0.81541	CAA		0.323	FRYL-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000369265.2			15	61	0	0	0	0.004007	0	15	61					A	48611011	G	A	48611011	4	1	162	1	0	0	0	0	0	1	0	0	6064	1357	47	3	8700	3	FRYL	4	48611011	Nonsense_Mutation	SNP	G	TCGA-G9-6361-01A-21D-1961-08	42503522	48611011	142543265	14	7788											
ANKRD17	26057	broad.mit.edu	37	chr4	73968249	73968249	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cgcagccaaagccagcctccGactttcttcccttaactgtt	8	11	6	16	2	1	0	0	0	1	0	3	1	3	0	5	0	4	2	5	0	2	4	rs143314189	byFrequency	TCGA-G9-6361-01A-21D-1961-08	TCGA-G9-6361-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae721ffe-45da-4029-bcbd-6e218f607de2	1977a26b-0d18-495c-8a57-ac73a2953e90	g.chr4:73968249G>A	ENST00000358602.4	-	25	4533	c.4417C>T	c.(4417-4419)Cgg>Tgg	p.R1473W	ANKRD17_ENST00000330838.6_Missense_Mutation_p.R1222W|ANKRD17_ENST00000509867.2_Missense_Mutation_p.R1360W	NM_032217.3	NP_115593.3	O75179	ANR17_HUMAN	ankyrin repeat domain 17	1473					blood vessel maturation (GO:0001955)|negative regulation of smooth muscle cell differentiation (GO:0051151)|viral process (GO:0016032)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)	96	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			GCCAGCCTCCGACTTTCTTCC	0.343																																						ENST00000358602.4																			0				NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)	96						c.(4417-4419)Cgg>Tgg		ankyrin repeat domain 17							64	63	63					4																	73968249		2202	4300	6502	SO:0001583	missense	26057				interspecies interaction between organisms	cytoplasm|nucleus	RNA binding	g.chr4:73968249G>A	AB014597	CCDS34003.1, CCDS34004.1, CCDS68721.1	4q21.1-q21.21	2013-01-10			ENSG00000132466	ENSG00000132466		"Ankyrin repeat domain containing"	23575	protein-coding gene	gene with protein product		615929				11165478	Standard	NM_032217		Approved	GTAR, KIAA0697, FLJ22206, NY-BR-16	uc003hgp.3	O75179	OTTHUMG00000160826	ENST00000358602.4:c.4417C>T	4.37:g.73968249G>A	ENSP00000351416:p.Arg1473Trp					ANKRD17_ENST00000330838.6_Missense_Mutation_p.R1222W|ANKRD17_ENST00000509867.2_Missense_Mutation_p.R1360W	p.R1473W	NM_032217.3	NP_115593.3	O75179	ANR17_HUMAN	Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		25	4533	-	Breast(15;0.000295)		1473					E7EUV3|G5E964|Q6PJ85|Q6PK85|Q6PKA2|Q86XI3|Q8NDR5|Q96I86|Q9H288|Q9H6J9	Missense_Mutation	SNP	ENST00000358602.4	37	c.4417C>T	CCDS34004.1	.	.	.	.	.	.	.	.	.	.	G	16.38	3.106778	0.56291	.	.	ENSG00000132466	ENST00000358602;ENST00000330838;ENST00000509867	T;T;T	0.70045	1.51;-0.4;-0.45	5.69	2.68	0.31781	.	0.355747	0.21273	N	0.077285	T	0.71584	0.3357	L	0.36672	1.1	0.37881	D	0.930373	D;D;D;D	0.76494	0.999;0.999;0.999;0.999	D;D;P;P	0.66196	0.942;0.942;0.877;0.825	T	0.76002	-0.3118	10	0.87932	D	0	.	13.0324	0.58848	0.0:0.0:0.3367:0.6632	.	1472;1222;1473;1360	O75179-2;G5E964;O75179;E7EUV3	.;.;ANR17_HUMAN;.	W	1473;1222;1360	ENSP00000351416:R1473W;ENSP00000332265:R1222W;ENSP00000427151:R1360W	ENSP00000332265:R1222W	R	-	1	2	ANKRD17	74187113	1.000000	0.71417	0.938000	0.37757	0.998000	0.95712	2.549000	0.45803	0.735000	0.32537	0.585000	0.79938	CGG		0.343	ANKRD17-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000362475.1	NM_032217		15	26	0	0	0	0.004007	0	15	26					A	73968249	G	A	73968249	3	1	162	1	0	0	0	0	1	0	0	0	646	1057	37	2	3434	2	ANKRD17	4	73968249	Missense_Mutation	SNP	G	TCGA-G9-6361-01A-21D-1961-08	25357238	73968249	117186027	15	7789											
ADAMTS12	81792	broad.mit.edu	37	chr5	33535013	33535013	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tttgtgatcacatagacattGgtcttggtcttcagttttat	8	19	8	6	0	4	2	2	1	2	1	4	2	4	2	0	2	0	1	0	2	2	7			TCGA-G9-6361-01A-21D-1961-08	TCGA-G9-6361-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae721ffe-45da-4029-bcbd-6e218f607de2	1977a26b-0d18-495c-8a57-ac73a2953e90	g.chr5:33535013G>T	ENST00000504830.1	-	23	4866	c.4531C>A	c.(4531-4533)Caa>Aaa	p.Q1511K	ADAMTS12_ENST00000352040.3_Missense_Mutation_p.Q1426K	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	1511	TSP type-1 8. {ECO:0000255|PROSITE- ProRule:PRU00210}.				cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cellular response to BMP stimulus (GO:0071773)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of cellular response to hepatocyte growth factor stimulus (GO:2001113)|negative regulation of cellular response to vascular endothelial growth factor stimulus (GO:1902548)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of hepatocyte growth factor receptor signaling pathway (GO:1902203)|proteoglycan catabolic process (GO:0030167)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of endothelial tube morphogenesis (GO:1901509)|regulation of inflammatory response (GO:0050727)	extracellular matrix (GO:0031012)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						CATAGACATTGGTCTTGGTCT	0.493										HNSCC(64;0.19)																												ENST00000504830.1																			0				NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						c.(4531-4533)Caa>Aaa		ADAM metallopeptidase with thrombospondin type 1 motif, 12							147	139	141					5																	33535013		2203	4300	6503	SO:0001583	missense	81792				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:33535013G>T	AJ250725	CCDS34140.1	5q35	2008-07-18	2005-08-19		ENSG00000151388	ENSG00000151388		"ADAM metallopeptidases with thrombospondin type 1 motif"	14605	protein-coding gene	gene with protein product		606184	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 12"			11279086	Standard	NM_030955		Approved		uc003jia.1	P58397	OTTHUMG00000162088	ENST00000504830.1:c.4531C>A	5.37:g.33535013G>T	ENSP00000422554:p.Gln1511Lys	HNSCC(64;0.19)				ADAMTS12_ENST00000352040.3_Missense_Mutation_p.Q1426K	p.Q1511K	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN			23	4866	-			1511			TSP type-1 8.		A2RRN9|A5D6V6|Q6UWL3	Missense_Mutation	SNP	ENST00000504830.1	37	c.4531C>A	CCDS34140.1	.	.	.	.	.	.	.	.	.	.	G	0.082	-1.182159	0.01633	.	.	ENSG00000151388	ENST00000504830;ENST00000352040	T;T	0.60299	0.2;0.2	3.8	1.94	0.25998	.	0.665592	0.15931	N	0.237660	T	0.41971	0.1182	L	0.41824	1.3	0.09310	N	1	B;B	0.20164	0.034;0.042	B;B	0.22753	0.024;0.041	T	0.21724	-1.0237	10	0.26408	T	0.33	.	4.3947	0.11356	0.1164:0.0:0.6616:0.222	.	1426;1511	P58397-3;P58397	.;ATS12_HUMAN	K	1511;1426	ENSP00000422554:Q1511K;ENSP00000344847:Q1426K	ENSP00000344847:Q1426K	Q	-	1	0	ADAMTS12	33570770	0.000000	0.05858	0.001000	0.08648	0.232000	0.25224	-0.235000	0.09016	0.538000	0.28769	0.563000	0.77884	CAA		0.493	ADAMTS12-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367164.2	NM_030955		37	65	1	0	2.05212e-20	0.005524	2.88086e-20	37	65					T	33535013	G	T	33535013	3	4	162	1	0	0	0	0	1	0	0	0	257	1357	47	5	261	5	ADAMTS12	5	33535013	Missense_Mutation	SNP	G	TCGA-G9-6361-01A-21D-1961-08		33535013	147380247	16	7790											
TINAG	27283	broad.mit.edu	37	chr6	54219401	54219401	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	taaagaatcagaaaaatatcGaaagcttcagacacatgcag	20	7	7	7	1	2	3	2	0	0	3	3	4	2	3	0	0	2	2	0	0	7	3			TCGA-G9-6361-01A-21D-1961-08	TCGA-G9-6361-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae721ffe-45da-4029-bcbd-6e218f607de2	1977a26b-0d18-495c-8a57-ac73a2953e90	g.chr6:54219401G>A	ENST00000259782.4	+	9	1313	c.1217G>A	c.(1216-1218)cGa>cAa	p.R406Q		NM_014464.3	NP_055279.3	Q9UJW2	TINAG_HUMAN	tubulointerstitial nephritis antigen	406					cell adhesion (GO:0007155)|immune response (GO:0006955)	basement membrane (GO:0005604)	cysteine-type endopeptidase activity (GO:0004197)|nucleotide binding (GO:0000166)|polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(1)	34	Lung NSC(77;0.0518)		LUSC - Lung squamous cell carcinoma(124;0.246)			GAAAAATATCGAAAGCTTCAG	0.318																																						ENST00000259782.4																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(1)	34						c.(1216-1218)cGa>cAa		tubulointerstitial nephritis antigen							67	67	67					6																	54219401		2202	4298	6500	SO:0001583	missense	27283				cell adhesion|immune response|Malpighian tubule morphogenesis|proteolysis	basement membrane	cysteine-type endopeptidase activity|nucleotide binding|polysaccharide binding|scavenger receptor activity	g.chr6:54219401G>A	AB022277	CCDS4955.1	6p12.1	2008-05-15			ENSG00000137251	ENSG00000137251			14599	protein-coding gene	gene with protein product		606749				10652240	Standard	NM_014464		Approved		uc003pcj.2	Q9UJW2	OTTHUMG00000014893	ENST00000259782.4:c.1217G>A	6.37:g.54219401G>A	ENSP00000259782:p.Arg406Gln						p.R406Q	NM_014464.3	NP_055279.3	Q9UJW2	TINAG_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.246)		9	1313	+	Lung NSC(77;0.0518)		406					Q5T467|Q9UJW1|Q9ULZ4	Missense_Mutation	SNP	ENST00000259782.4	37	c.1217G>A	CCDS4955.1	.	.	.	.	.	.	.	.	.	.	G	10.74	1.435696	0.25813	.	.	ENSG00000137251	ENST00000339741;ENST00000259782;ENST00000370865	D	0.83914	-1.78	5.54	-6.78	0.01721	Peptidase C1A, papain C-terminal (2);	0.986368	0.08253	N	0.974253	T	0.53818	0.1820	L	0.28274	0.84	0.09310	N	1	B	0.09022	0.002	B	0.10450	0.005	T	0.37753	-0.9692	10	0.39692	T	0.17	.	15.4654	0.75397	0.6411:0.0:0.3589:0.0	.	406	Q9UJW2	TINAG_HUMAN	Q	265;406;85	ENSP00000259782:R406Q	ENSP00000259782:R406Q	R	+	2	0	TINAG	54327360	0.033000	0.19621	0.013000	0.15412	0.657000	0.38888	-1.722000	0.01868	-1.600000	0.01603	-0.794000	0.03295	CGA		0.318	TINAG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040984.1	NM_014464		5	52	0	0	0	0.000602	0	5	52					A	54219401	G	A	54219401	3	1	162	1	0	0	0	0	1	0	0	0	15918	1058	37	2	1251	2	TINAG	6	54219401	Missense_Mutation	SNP	G	TCGA-G9-6361-01A-21D-1961-08		54219401	116895666	17	7791											
RNASET2	8635	broad.mit.edu	37	chr6	167343248	167343248	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgcttagtgaggcacagtTctatctgaccaattgtctgt	8	15	9	9	0	3	2	0	2	3	0	3	2	3	2	1	1	1	3	1	1	3	5			TCGA-G9-6361-01A-21D-1961-08	TCGA-G9-6361-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae721ffe-45da-4029-bcbd-6e218f607de2	1977a26b-0d18-495c-8a57-ac73a2953e90	g.chr6:167343248T>G	ENST00000508775.1	-	9	1118	c.599A>C	c.(598-600)gAa>gCa	p.E200A	RNASET2_ENST00000476238.2_Missense_Mutation_p.E200A|RP11-514O12.4_ENST00000507747.1_Intron|RNASET2_ENST00000366855.6_Missense_Mutation_p.E162A	NM_003730.4	NP_003721.2	O00584	RNT2_HUMAN	ribonuclease T2	200					RNA catabolic process (GO:0006401)|RNA phosphodiester bond hydrolysis (GO:0090501)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	ribonuclease activity (GO:0004540)|ribonuclease T2 activity (GO:0033897)|RNA binding (GO:0003723)			large_intestine(4)|lung(4)	8		Breast(66;1.53e-05)|Ovarian(120;0.0606)		OV - Ovarian serous cystadenocarcinoma(33;1.53e-19)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00665)		GAGGCACAGTTCTATCTGACC	0.493																																						ENST00000366855.6																			0				large_intestine(4)|lung(4)	8						c.(484-486)gAa>gCa		ribonuclease T2							90	91	91					6																	167343248		2203	4300	6503	SO:0001583	missense	8635				RNA catabolic process	extracellular region	ribonuclease T2 activity|RNA binding	g.chr6:167343248T>G	AJ419866	CCDS5295.1	6q27	2014-05-20			ENSG00000026297	ENSG00000026297			21686	protein-coding gene	gene with protein product		612944				9192857	Standard	NM_003730		Approved	RNASE6PL, FLJ10907, bA514O12.3	uc003qve.3	O00584	OTTHUMG00000016009	ENST00000508775.1:c.599A>C	6.37:g.167343248T>G	ENSP00000426455:p.Glu200Ala					RNASET2_ENST00000508775.1_Missense_Mutation_p.E200A|RNASET2_ENST00000476238.2_Missense_Mutation_p.E200A|RP11-514O12.4_ENST00000507747.1_Intron	p.E162A			O00584	RNT2_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;1.53e-19)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00665)	10	1160	-		Breast(66;1.53e-05)|Ovarian(120;0.0606)	200					B2RDA7|E1P5C3|Q5T8Q0|Q8TCU2|Q9BZ46|Q9BZ47	Missense_Mutation	SNP	ENST00000508775.1	37	c.485A>C	CCDS5295.1	.	.	.	.	.	.	.	.	.	.	T	14.18	2.457421	0.43634	.	.	ENSG00000026297	ENST00000366855;ENST00000508775;ENST00000428859;ENST00000476238;ENST00000478180	T;T;T;T	0.76060	-0.99;-0.99;-0.99;-0.99	4.57	4.57	0.56435	.	0.052898	0.64402	D	0.000001	T	0.74673	0.3747	L	0.56396	1.775	0.51482	D	0.99992	D;D	0.89917	1.0;1.0	D;D	0.80764	0.994;0.986	T	0.72666	-0.4224	10	0.18710	T	0.47	-14.5902	11.9105	0.52737	0.0:0.0:0.0:1.0	.	250;200	C9JIU8;O00584	.;RNT2_HUMAN	A	162;200;250;200;200	ENSP00000424947:E162A;ENSP00000426455:E200A;ENSP00000422846:E200A;ENSP00000426059:E200A	ENSP00000424947:E162A	E	-	2	0	RNASET2	167263238	0.998000	0.40836	0.880000	0.34516	0.027000	0.11550	4.373000	0.59537	1.682000	0.51000	0.533000	0.62120	GAA		0.493	RNASET2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043089.2	NM_003730		4	161	0	0	0	0.009096	0	4	161					G	167343248	T	G	167343248	3	3	162	1	0	0	0	0	1	0	0	0	13418	1783	62	5	175	5	RNASET2	6	167343248	Missense_Mutation	SNP	T	TCGA-G9-6361-01A-21D-1961-08	113123847	167343248	3771819	18	7792											
AKAP9	10142	broad.mit.edu	37	chr7	91621525	91621525	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	aagcctacaaatttattaagGgtacagtatttaaaactact	17	13	5	6	0	0	0	0	0	0	0	0	0	0	0	1	1	5	2	1	1	10	9			TCGA-G9-6361-01A-21D-1961-08	TCGA-G9-6361-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae721ffe-45da-4029-bcbd-6e218f607de2	1977a26b-0d18-495c-8a57-ac73a2953e90	g.chr7:91621525G>T	ENST00000359028.2	+	5	666	c.441G>T	c.(439-441)agG>agT	p.R147S	AKAP9_ENST00000394564.1_Splice_Site_p.R135S|AKAP9_ENST00000358100.2_Splice_Site_p.R147S|AKAP9_ENST00000356239.3_Splice_Site_p.R135S			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	147					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|Sertoli cell development (GO:0060009)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)|synaptic transmission (GO:0007268)|transport (GO:0006810)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|pericentriolar material (GO:0000242)|voltage-gated potassium channel complex (GO:0008076)	ion channel binding (GO:0044325)|protein complex scaffold (GO:0032947)|receptor binding (GO:0005102)			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			ATTTATTAAGGGTACAGTATT	0.294			T	BRAF	papillary thyroid																																	ENST00000359028.2				Dom	yes		7	7q21-q22	10142	T	A kinase (PRKA) anchor protein (yotiao) 9			E	BRAF		papillary thyroid		0				NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155						c.e5+1		A kinase (PRKA) anchor protein 9							90	107	101					7																	91621525		2203	4295	6498	SO:0001630	splice_region_variant	10142				G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding	g.chr7:91621525G>T	AF091711	CCDS5622.1	7q21-q22	2014-09-17	2013-09-25		ENSG00000127914	ENSG00000127914		"A-kinase anchor proteins", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	379	protein-coding gene	gene with protein product	"A-kinase anchoring protein 450", "AKAP9-BRAF fusion protein", "AKAP120-like protein", "centrosome- and golgi-localized protein kinase N-associated protein", "protein kinase A anchoring protein 9", "A-kinase anchor protein, 350kDa", "protein phosphatase 1, regulatory subunit 45", "yotiao"	604001				9482789, 10390370, 24475373	Standard	NM_147185		Approved	KIAA0803, AKAP350, AKAP450, CG-NAP, YOTIAO, HYPERION, PRKA9, MU-RMS-40.16A, PPP1R45, LQT11	uc003ulg.3	Q99996	OTTHUMG00000131127	ENST00000359028.2:c.441+1G>T	7.37:g.91621525G>T						AKAP9_ENST00000394564.1_Splice_Site_p.R135_splice|AKAP9_ENST00000358100.2_Splice_Site_p.R147_splice|AKAP9_ENST00000356239.3_Splice_Site_p.R135_splice	p.R147_splice			Q99996	AKAP9_HUMAN	STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)		5	666	+	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		147					A4D1F0|A4D1F2|A4D1F4|O14869|O43355|O94895|Q75N20|Q9UQH3|Q9UQQ4|Q9Y6B8|Q9Y6Y2	Splice_Site	SNP	ENST00000359028.2	37	c.441_splice		.	.	.	.	.	.	.	.	.	.	G	17.32	3.359996	0.61403	.	.	ENSG00000127914	ENST00000356239;ENST00000359028;ENST00000358100;ENST00000413120;ENST00000394565;ENST00000394564	T;T;T;T	0.12361	2.69;2.69;2.69;2.69	5.41	5.41	0.78517	.	0.000000	0.36815	N	0.002391	T	0.34571	0.0902	M	0.63843	1.955	0.49582	D	0.999809	D;D;D;P	0.67145	0.989;0.989;0.996;0.925	P;P;P;P	0.61658	0.787;0.787;0.892;0.691	T	0.02093	-1.1215	10	0.66056	D	0.02	.	19.5512	0.95322	0.0:0.0:1.0:0.0	.	135;135;147;135	Q99996-2;Q99996-3;A4D1E4;Q6PJH3	.;.;.;.	S	135;147;147;147;147;135	ENSP00000348573:R135S;ENSP00000351922:R147S;ENSP00000350813:R147S;ENSP00000378065:R135S	ENSP00000348573:R135S	R	+	3	2	AKAP9	91459461	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	5.055000	0.64282	2.685000	0.91497	0.650000	0.86243	AGG		0.294	AKAP9-202	KNOWN	basic	protein_coding	protein_coding		NM_005751	Missense_Mutation	16	128	1	0	1.15088e-07	0.004007	1.50025e-07	16	128					T	91621525	G	T	91621525	5	4	162	1	0	0	0	0	0	0	1	0	459	1246	43	5	419	5	AKAP9	7	91621525	Splice_Site	SNP	G	TCGA-G9-6361-01A-21D-1961-08		91621525	67517138	19	7793											
LHFPL3	375612	broad.mit.edu	37	chr7	104377297	104377297	+	Frame_Shift_Del	DEL	A	A	-																															ctgatcctctcatttctagcAtttgtgcttggtaatcgaca																										TCGA-G9-6361-01A-21D-1961-08	TCGA-G9-6361-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae721ffe-45da-4029-bcbd-6e218f607de2	1977a26b-0d18-495c-8a57-ac73a2953e90	g.chr7:104377297delA	ENST00000401970.2	+	2	701	c.579delA	c.(577-579)gcafs	p.A193fs	LHFPL3-AS1_ENST00000449764.1_RNA|LHFPL3-AS1_ENST00000433514.1_RNA|LHFPL3_ENST00000543266.1_Frame_Shift_Del_p.A207fs|LHFPL3_ENST00000424859.1_Frame_Shift_Del_p.A193fs|LHFPL3_ENST00000535008.1_Frame_Shift_Del_p.A207fs			Q86UP9	LHPL3_HUMAN	lipoma HMGIC fusion partner-like 3	207						integral component of membrane (GO:0016021)				kidney(1)|large_intestine(2)|lung(6)	9						CATTTCTAGCATTTGTGCTTG	0.448																																						ENST00000535008.1																			0				kidney(1)|large_intestine(2)|lung(6)	9						c.(619-621)gcfs		lipoma HMGIC fusion partner-like 3							72	71	71					7																	104377297		1939	4159	6098	SO:0001589	frameshift_variant	375612					integral to membrane		g.chr7:104377297delA	AY260763		7q22.2	2006-06-13			ENSG00000187416	ENSG00000187416			6589	protein-coding gene	gene with protein product		609719	"lipoma HMGIC fusion partner-like 4"	LHFPL4		10329012	Standard	NM_199000		Approved		uc003vce.3	Q86UP9	OTTHUMG00000157273	ENST00000401970.2:c.579delA	7.37:g.104377297delA	ENSP00000385374:p.Ala193fs					LHFPL3_ENST00000401970.2_Frame_Shift_Del_p.A193fs|LHFPL3_ENST00000424859.1_Frame_Shift_Del_p.A193fs|LHFPL3_ENST00000543266.1_Frame_Shift_Del_p.A207fs	p.A207fs			Q86UP9	LHPL3_HUMAN			4	745	+			193					A1L383|A4D0Q5	Frame_Shift_Del	DEL	ENST00000401970.2	37	c.621delA																																																																																					0.448	LHFPL3-002	PUTATIVE	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000348284.1	NM_199000		9	12						9	12	---	---	---	---	-	104377297	A	-	104377297	7	5	162	1	0	1	0	1	0	0	0	0	8766	204	8	0	627	0	LHFPL3	7	104377297	Frame_Shift_Del	DEL	A	TCGA-G9-6361-01A-21D-1961-08	12755772	104377297	54761366	20	7794											
CTTNBP2	83992	broad.mit.edu	37	chr7	117400554	117400554	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatcagtggtgttattgcaaGtcacgtcttccagactccac	10	12	8	11	1	3	1	2	0	1	1	5	1	5	1	2	1	1	2	2	1	3	3			TCGA-G9-6361-01A-21D-1961-08	TCGA-G9-6361-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae721ffe-45da-4029-bcbd-6e218f607de2	1977a26b-0d18-495c-8a57-ac73a2953e90	g.chr7:117400554G>T	ENST00000160373.3	-	10	3198	c.3107C>A	c.(3106-3108)aCt>aAt	p.T1036N		NM_033427.2	NP_219499.1	Q8WZ74	CTTB2_HUMAN	cortactin binding protein 2	1036					brain development (GO:0007420)	cell projection (GO:0042995)|synaptic vesicle (GO:0008021)				breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83	Lung NSC(10;0.0018)|all_lung(10;0.002)			LUSC - Lung squamous cell carcinoma(290;0.133)		GTTATTGCAAGTCACGTCTTC	0.453																																						ENST00000160373.3																			0				breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83						c.(3106-3108)aCt>aAt		cortactin binding protein 2							170	150	157					7																	117400554		2203	4300	6503	SO:0001583	missense	83992							g.chr7:117400554G>T		CCDS5774.1	7q31	2013-01-10	2004-06-08	2004-06-09	ENSG00000077063	ENSG00000077063		"Ankyrin repeat domain containing"	15679	protein-coding gene	gene with protein product		609772	"cortactin binding protein 2"	CORTBP2, C7orf8		11707066	Standard	XM_005250635		Approved	KIAA1758, Orf4	uc003vjf.3	Q8WZ74	OTTHUMG00000022880	ENST00000160373.3:c.3107C>A	7.37:g.117400554G>T	ENSP00000160373:p.Thr1036Asn						p.T1036N	NM_033427.2	NP_219499.1	Q8WZ74	CTTB2_HUMAN		LUSC - Lung squamous cell carcinoma(290;0.133)	10	3198	-	Lung NSC(10;0.0018)|all_lung(10;0.002)		1036					O43389|Q7LG11|Q9C0A5	Missense_Mutation	SNP	ENST00000160373.3	37	c.3107C>A	CCDS5774.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	G|G|G	8.897|8.897|8.897	0.955377|0.955377|0.955377	0.18507|0.18507|0.18507	.|.|.	.|.|.	ENSG00000077063|ENSG00000077063|ENSG00000077063	ENST00000446636|ENST00000435233;ENST00000416239|ENST00000160373	.|.|T	.|.|0.66815	.|.|-0.23	5.72|5.72|5.72	3.88|3.88|3.88	0.44766|0.44766|0.44766	.|.|.	.|.|0.408889	.|.|0.27151	.|.|N	.|.|0.020687	T|T|T	0.65238|0.65238|0.65238	0.2672|0.2672|0.2672	M|M|M	0.79123|0.79123|0.79123	2.44|2.44|2.44	0.09310|0.09310|0.09310	N|N|N	0.999998|0.999998|0.999998	.|.|P	.|.|0.43938	.|.|0.822	.|.|B	.|.|0.34824	.|.|0.19	T|T|T	0.62756|0.62756|0.62756	-0.6787|-0.6787|-0.6787	5|5|10	.|.|0.72032	.|.|D	.|.|0.01	-1.2873|-1.2873|-1.2873	15.3094|15.3094|15.3094	0.74019|0.74019|0.74019	0.0:0.0:0.7438:0.2562|0.0:0.0:0.7438:0.2562|0.0:0.0:0.7438:0.2562	.|.|.	.|.|1036	.|.|Q8WZ74	.|.|CTTB2_HUMAN	E|I|N	523|50;32|1036	.|.|ENSP00000160373:T1036N	.|.|ENSP00000160373:T1036N	D|L|T	-|-|-	3|1|2	2|0|0	CTTNBP2|CTTNBP2|CTTNBP2	117187790|117187790|117187790	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	0.011000|0.011000|0.011000	0.14972|0.14972|0.14972	0.019000|0.019000|0.019000	0.09904|0.09904|0.09904	4.653000|4.653000|4.653000	0.61462|0.61462|0.61462	0.852000|0.852000|0.852000	0.35287|0.35287|0.35287	0.650000|0.650000|0.650000	0.86243|0.86243|0.86243	GAC|CTT|ACT		0.453	CTTNBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059201.4	NM_033427		51	78	1	0	4.10826e-27	0.00361	5.88045e-27	51	78					T	117400554	G	T	117400554	3	4	162	1	0	0	0	0	1	0	0	0	4045	1029	36	5	1940	5	CTTNBP2	7	117400554	Missense_Mutation	SNP	G	TCGA-G9-6361-01A-21D-1961-08	13023257	117400554	41738109	21	7795											
DLC1	10395	broad.mit.edu	37	chr8	13162748	13162748	+	Intron	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttattctaaaatagattggCgagaaaacagaaccaaaatg	19	10	7	5	1	1	3	0	0	1	3	1	4	1	3	1	1	2	0	1	1	9	6	rs202220331		TCGA-G9-6361-01A-21D-1961-08	TCGA-G9-6361-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae721ffe-45da-4029-bcbd-6e218f607de2	1977a26b-0d18-495c-8a57-ac73a2953e90	g.chr8:13162748C>T	ENST00000276297.4	-	5	1758				DLC1_ENST00000316609.5_Intron|DLC1_ENST00000511869.1_Missense_Mutation_p.A460T	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN	DLC1 Rho GTPase activating protein						actin cytoskeleton organization (GO:0030036)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|focal adhesion assembly (GO:0048041)|forebrain development (GO:0030900)|heart morphogenesis (GO:0003007)|hindbrain morphogenesis (GO:0021575)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of stress fiber assembly (GO:0051497)|neural tube closure (GO:0001843)|positive regulation of execution phase of apoptosis (GO:1900119)|positive regulation of protein dephosphorylation (GO:0035307)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	lipid binding (GO:0008289)|Rho GTPase activator activity (GO:0005100)|SH2 domain binding (GO:0042169)			NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						AATAGATTGGCGAGAAAACAG	0.274																																						ENST00000511869.1																			0				NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						c.(1378-1380)Gcc>Acc		deleted in liver cancer 1							67	71	69					8																	13162748		2202	4298	6500	SO:0001627	intron_variant	10395				actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding	g.chr8:13162748C>T	AF035119	CCDS5989.1, CCDS5990.1, CCDS5991.1, CCDS5991.2, CCDS55201.1	8p22	2014-06-20	2014-06-20		ENSG00000164741	ENSG00000164741		"Rho GTPase activating proteins", "StAR-related lipid transfer (START) domain containing"	2897	protein-coding gene	gene with protein product	"StAR-related lipid transfer (START) domain containing 12"	604258	"deleted in liver cancer 1"			9605766, 11214970	Standard	NM_182643		Approved	HP, ARHGAP7, STARD12, DLC-1, p122-RhoGAP	uc003wwm.2	Q96QB1	OTTHUMG00000090825	ENST00000276297.4:c.1348+29G>A	8.37:g.13162748C>T						DLC1_ENST00000316609.5_Intron|DLC1_ENST00000276297.4_Intron	p.A460T	NM_024767.3	NP_079043.3	Q96QB1	RHG07_HUMAN			5	1788	-			0			SAM.		B4DR10|B8PTI0|E9PDZ8|E9PF76|E9PGY9|O14868|O43199|Q7Z5R8|Q86UC6|Q9C0E0|Q9H7A2	Missense_Mutation	SNP	ENST00000276297.4	37	c.1378G>A	CCDS5989.1	.	.	.	.	.	.	.	.	.	.	C	4.121	0.020732	0.08006	.	.	ENSG00000164741	ENST00000511869	T	0.12774	2.65	3.67	-0.373	0.12516	.	.	.	.	.	T	0.05960	0.0155	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.35549	-0.9784	9	0.87932	D	0	.	2.9198	0.05765	0.2776:0.4734:0.0945:0.1545	.	460	E9PF76	.	T	460	ENSP00000425878:A460T	ENSP00000425878:A460T	A	-	1	0	DLC1	13207119	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.168000	0.16622	-0.289000	0.09038	-2.766000	0.00121	GCC		0.274	DLC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207632.2	NM_182643, NM_006094		18	17	0	0	0	0.007413	0	18	17					T	13162748	C	T	13162748	1	4	162	0	1	0	0	0	0	0	0	0	4550	768	27	1		1	DLC1	8	13162748	Intron	SNP	C	TCGA-G9-6361-01A-21D-1961-08		13162748	133201274	22	7796											
FAM135B	51059	broad.mit.edu	37	chr8	139209802	139209802	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gggatgtcccgcatgatcacCaggaagtggagacggagacc	11	5	15	10	2	1	3	1	1	0	2	2	7	2	5	3	4	0	1	3	4	1	0			TCGA-G9-6361-01A-21D-1961-08	TCGA-G9-6361-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae721ffe-45da-4029-bcbd-6e218f607de2	1977a26b-0d18-495c-8a57-ac73a2953e90	g.chr8:139209802C>T	ENST00000395297.1	-	8	950	c.780G>A	c.(778-780)ctG>ctA	p.L260L		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	260										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			GCATGATCACCAGGAAGTGGA	0.617										HNSCC(54;0.14)																												ENST00000395297.1																			0				NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238						c.(778-780)ctG>ctA		family with sequence similarity 135, member B							63	73	70					8																	139209802		2144	4264	6408	SO:0001819	synonymous_variant	51059							g.chr8:139209802C>T	AB196635	CCDS6375.2	8q24.23	2008-11-05			ENSG00000147724	ENSG00000147724			28029	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_015912		Approved	C8ORFK32	uc003yuy.3	Q49AJ0	OTTHUMG00000149864	ENST00000395297.1:c.780G>A	8.37:g.139209802C>T		HNSCC(54;0.14)					p.L260L	NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0805)		8	950	-	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		260					B5MDB3|O95879|Q2WGJ7|Q3KP46	Silent	SNP	ENST00000395297.1	37	c.780G>A	CCDS6375.2																																																																																				0.617	FAM135B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313590.3	NM_015912		14	69	0	0	0	0.001855	0	14	69					T	139209802	C	T	139209802	2	4	162	1	0	0	0	0	0	0	0	1	5449	581	21	3		3	FAM135B	8	139209802	Silent	SNP	C	TCGA-G9-6361-01A-21D-1961-08	126047054	139209802	7154220	23	7797											
KIAA1797	54914	broad.mit.edu	37	chr9	20978420	20978420	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagctgcactattgggcttGtgggtgacaccaccactgat	8	10	12	11	0	0	2	0	2	0	0	0	2	0	2	2	2	2	4	2	2	1	3			TCGA-G9-6361-01A-21D-1961-08	TCGA-G9-6361-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae721ffe-45da-4029-bcbd-6e218f607de2	1977a26b-0d18-495c-8a57-ac73a2953e90	g.chr9:20978420G>C	ENST00000380249.1	+	39	4708	c.4344G>C	c.(4342-4344)ttG>ttC	p.L1448F	FOCAD_ENST00000338382.6_Missense_Mutation_p.L1448F|FOCAD_ENST00000605086.1_Missense_Mutation_p.L884F	NM_017794.3	NP_060264.3	Q5VW36	FOCAD_HUMAN	focadhesin	1448						focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)											TATTGGGCTTGTGGGTGACAC	0.458																																						ENST00000380249.1																			0											c.(4342-4344)ttG>ttC		focadhesin							84	76	78					9																	20978420		2203	4300	6503	SO:0001583	missense	54914					integral to membrane	binding	g.chr9:20978420G>C	AB058700	CCDS34993.1	9p21	2012-03-23	2012-03-23	2012-03-23	ENSG00000188352	ENSG00000188352			23377	protein-coding gene	gene with protein product		614606	"KIAA1797"	KIAA1797		22427331	Standard	XM_006716794		Approved	FLJ20375	uc003zog.1	Q5VW36	OTTHUMG00000066930	ENST00000380249.1:c.4344G>C	9.37:g.20978420G>C	ENSP00000369599:p.Leu1448Phe					FOCAD_ENST00000605086.1_Missense_Mutation_p.L884F|FOCAD_ENST00000338382.6_Missense_Mutation_p.L1448F	p.L1448F	NM_017794.3	NP_060264.3	Q5VW36	K1797_HUMAN			39	4708	+			1448					D3DRJ9|Q6ZME1|Q8IZG0|Q96JM8|Q96MS9|Q9BVF3|Q9NX87	Missense_Mutation	SNP	ENST00000380249.1	37	c.4344G>C	CCDS34993.1	.	.	.	.	.	.	.	.	.	.	G	15.00	2.704231	0.48412	.	.	ENSG00000188352	ENST00000380249;ENST00000338382	T;T	0.24723	1.84;1.84	6.06	2.26	0.28386	.	0.718800	0.14443	N	0.319248	T	0.24890	0.0604	L	0.47716	1.5	0.35516	D	0.801048	P	0.42518	0.782	B	0.43445	0.42	T	0.18840	-1.0324	10	0.29301	T	0.29	-8.7802	9.7398	0.40411	0.2649:0.0:0.7351:0.0	.	1448	Q5VW36	K1797_HUMAN	F	1448	ENSP00000369599:L1448F;ENSP00000344307:L1448F	ENSP00000344307:L1448F	L	+	3	2	KIAA1797	20968420	1.000000	0.71417	0.985000	0.45067	0.817000	0.46193	1.232000	0.32636	0.168000	0.19655	-0.768000	0.03414	TTG		0.458	FOCAD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143442.1	NM_017794		9	26	0	0	0	0.001855	0	9	26					C	20978420	G	C	20978420	3	2	162	1	0	0	0	0	1	0	0	0	8258	1368	48	5	4486	5	KIAA1797	9	20978420	Missense_Mutation	SNP	G	TCGA-G9-6361-01A-21D-1961-08		20978420	120235011	24	7798											
B4GALT1	2683	broad.mit.edu	37	chr9	33135276	33135276	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtacttgaggtgctcctgccGgttgcggaatggaatgatga	8	11	15	7	2	0	3	0	3	0	0	1	5	1	5	2	4	4	3	2	4	3	3			TCGA-G9-6361-01A-21D-1961-08	TCGA-G9-6361-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae721ffe-45da-4029-bcbd-6e218f607de2	1977a26b-0d18-495c-8a57-ac73a2953e90	g.chr9:33135276G>A	ENST00000379731.4	-	2	745	c.559C>T	c.(559-561)Cgg>Tgg	p.R187W	B4GALT1_ENST00000535206.1_Missense_Mutation_p.R187W	NM_001497.3	NP_001488.2	P15291	B4GT1_HUMAN	UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 1	187	UDP-alpha-D-galactose binding.				acute inflammatory response (GO:0002526)|angiogenesis involved in wound healing (GO:0060055)|binding of sperm to zona pellucida (GO:0007339)|branching morphogenesis of an epithelial tube (GO:0048754)|carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|development of secondary sexual characteristics (GO:0045136)|epithelial cell development (GO:0002064)|extracellular matrix organization (GO:0030198)|galactose metabolic process (GO:0006012)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|lactose biosynthetic process (GO:0005989)|leukocyte migration (GO:0050900)|mammary gland development (GO:0030879)|multicellular organism reproduction (GO:0032504)|negative regulation of cell proliferation (GO:0008285)|Notch signaling pathway (GO:0007219)|oligosaccharide biosynthetic process (GO:0009312)|penetration of zona pellucida (GO:0007341)|positive regulation of apoptotic process involved in mammary gland involution (GO:0060058)|positive regulation of epithelial cell proliferation involved in wound healing (GO:0060054)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)|regulation of acrosome reaction (GO:0060046)|regulation of cellular component movement (GO:0051270)|single fertilization (GO:0007338)|small molecule metabolic process (GO:0044281)	basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|desmosome (GO:0030057)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|glycocalyx (GO:0030112)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi trans cisterna (GO:0000138)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	alpha-tubulin binding (GO:0043014)|beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity (GO:0003831)|beta-tubulin binding (GO:0048487)|galactosyltransferase activity (GO:0008378)|lactose synthase activity (GO:0004461)|manganese ion binding (GO:0030145)|N-acetyllactosamine synthase activity (GO:0003945)|protein homodimerization activity (GO:0042803)|UDP-galactosyltransferase activity (GO:0035250)			endometrium(1)|large_intestine(7)|lung(4)|prostate(1)|skin(1)	14			LUSC - Lung squamous cell carcinoma(29;0.0084)	GBM - Glioblastoma multiforme(74;0.121)	N-Acetyl-D-glucosamine(DB00141)	TGCTCCTGCCGGTTGCGGAAT	0.562																																						ENST00000379731.4																			0				endometrium(1)|large_intestine(7)|lung(4)|prostate(1)|skin(1)	14						c.(559-561)Cgg>Tgg		UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 1	N-Acetyl-D-glucosamine(DB00141)						107	96	100					9																	33135276		2203	4300	6503	SO:0001583	missense	2683				oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	basolateral plasma membrane|brush border membrane|desmosome|external side of plasma membrane|extracellular region|glycocalyx|Golgi cisterna membrane|Golgi trans cisterna|integral to membrane	alpha-tubulin binding|beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity|beta-tubulin binding|lactose synthase activity|metal ion binding|N-acetyllactosamine synthase activity|protein binding|protein homodimerization activity	g.chr9:33135276G>A	X14085	CCDS6535.1	9p13	2013-02-19			ENSG00000086062	ENSG00000086062	2.4.1.22	"Beta 4-glycosyltransferases"	924	protein-coding gene	gene with protein product		137060		GGTB2		9597550	Standard	NM_001497		Approved	beta4Gal-T1	uc003zsg.2	P15291	OTTHUMG00000019764	ENST00000379731.4:c.559C>T	9.37:g.33135276G>A	ENSP00000369055:p.Arg187Trp					B4GALT1_ENST00000535206.1_Missense_Mutation_p.R187W	p.R187W	NM_001497.3	NP_001488.2	P15291	B4GT1_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0084)	GBM - Glioblastoma multiforme(74;0.121)	2	745	-			187					B2R710|D3DRL2|Q12909|Q12910|Q12911|Q14456|Q14509|Q14523	Missense_Mutation	SNP	ENST00000379731.4	37	c.559C>T	CCDS6535.1	.	.	.	.	.	.	.	.	.	.	G	33	5.249745	0.95305	.	.	ENSG00000086062	ENST00000535206;ENST00000379731;ENST00000541701	T;T	0.38887	1.11;1.11	5.18	5.18	0.71444	.	0.056828	0.64402	D	0.000001	T	0.77890	0.4198	H	0.97896	4.1	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.85743	0.1338	10	0.87932	D	0	-19.9582	16.5567	0.84487	0.0:0.0:1.0:0.0	.	187	P15291	B4GT1_HUMAN	W	187;187;144	ENSP00000440341:R187W;ENSP00000369055:R187W	ENSP00000369055:R187W	R	-	1	2	B4GALT1	33125276	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.384000	0.73177	2.848000	0.98002	0.655000	0.94253	CGG		0.562	B4GALT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052039.1	NM_001497		19	63	0	0	0	0.007413	0	19	63					A	33135276	G	A	33135276	3	1	162	1	0	0	0	0	1	0	0	0	1270	1115	39	2	657	2	B4GALT1	9	33135276	Missense_Mutation	SNP	G	TCGA-G9-6361-01A-21D-1961-08	12156856	33135276	108078155	25	7799											
ARHGAP21	57584	broad.mit.edu	37	chr10	24874123	24874123	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cctggaaagagtatcacattCgatgagtttatgggaactga	13	11	11	6	1	1	3	1	2	0	1	2	6	1	5	1	2	1	2	1	2	4	4			TCGA-G9-6361-01A-21D-1961-08	TCGA-G9-6361-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae721ffe-45da-4029-bcbd-6e218f607de2	1977a26b-0d18-495c-8a57-ac73a2953e90	g.chr10:24874123C>T	ENST00000396432.2	-	26	5581	c.5095G>A	c.(5095-5097)Gaa>Aaa	p.E1699K		NM_020824.3	NP_065875.3	Q5T5U3	RHG21_HUMAN	Rho GTPase activating protein 21	1698	Interaction with CTNNA1.				establishment of Golgi localization (GO:0051683)|Golgi organization (GO:0007030)|maintenance of Golgi location (GO:0051684)|organelle transport along microtubule (GO:0072384)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1)	78						GTATCACATTCGATGAGTTTA	0.408																																						ENST00000396432.2																			0				NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1)	78						c.(5095-5097)Gaa>Aaa		Rho GTPase activating protein 21							24	25	25					10																	24874123		2173	4225	6398	SO:0001583	missense	57584				signal transduction	cell junction|cytoplasmic vesicle membrane|cytoskeleton|Golgi membrane	GTPase activator activity|protein binding	g.chr10:24874123C>T	AF480466	CCDS7144.2	10p12.31	2013-01-10			ENSG00000107863	ENSG00000107863		"Rho GTPase activating proteins", "Pleckstrin homology (PH) domain containing"	23725	protein-coding gene	gene with protein product		609870				12056806	Standard	NM_020824		Approved	KIAA1424, ARHGAP10	uc001isb.2	Q5T5U3	OTTHUMG00000017825	ENST00000396432.2:c.5095G>A	10.37:g.24874123C>T	ENSP00000379709:p.Glu1699Lys						p.E1699K	NM_020824.3	NP_065875.3	Q5T5U3	RHG21_HUMAN			26	5581	-			1698			Interaction with CTNNA1.		Q0VF98|Q7Z3P7|Q8N3A2|Q8NI19|Q8TBV5|Q9P2C3	Missense_Mutation	SNP	ENST00000396432.2	37	c.5095G>A	CCDS7144.2	.	.	.	.	.	.	.	.	.	.	C	17.46	3.394378	0.62066	.	.	ENSG00000107863	ENST00000396432;ENST00000447364	T	0.12361	2.69	5.07	4.13	0.48395	.	0.000000	0.85682	D	0.000000	T	0.36908	0.0984	M	0.74258	2.255	0.80722	D	1	D	0.89917	1.0	D	0.75484	0.986	T	0.23013	-1.0200	10	0.66056	D	0.02	.	14.8807	0.70531	0.144:0.856:0.0:0.0	.	1698	Q5T5U3	RHG21_HUMAN	K	1699;1148	ENSP00000379709:E1699K	ENSP00000379709:E1699K	E	-	1	0	ARHGAP21	24914129	1.000000	0.71417	0.417000	0.26559	0.468000	0.32798	5.706000	0.68362	2.332000	0.79248	0.591000	0.81541	GAA		0.408	ARHGAP21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047229.4	NM_020824		5	84	0	0	0	0.000602	0	5	84					T	24874123	C	T	24874123	3	4	162	1	0	0	0	0	1	0	0	0	871	893	31	2	785	2	ARHGAP21	10	24874123	Missense_Mutation	SNP	C	TCGA-G9-6361-01A-21D-1961-08		24874123	110660624	26	7800											
HRAS	3265	broad.mit.edu	37	chr11	533476	533476	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccgggtcttggccgaggtctCgatgtaggggatgccgtagc	5	9	17	10	4	2	0	0	0	2	0	3	3	2	1	3	5	2	2	3	5	2	3			TCGA-G9-6361-01A-21D-1961-08	TCGA-G9-6361-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae721ffe-45da-4029-bcbd-6e218f607de2	1977a26b-0d18-495c-8a57-ac73a2953e90	g.chr11:533476C>T	ENST00000451590.1	-	4	614	c.427G>A	c.(427-429)Gag>Aag	p.E143K	HRAS_ENST00000311189.7_Missense_Mutation_p.E143K|HRAS_ENST00000468682.2_5'Flank|HRAS_ENST00000397596.2_Missense_Mutation_p.E143K|HRAS_ENST00000397594.1_Missense_Mutation_p.E143K|HRAS_ENST00000417302.1_Missense_Mutation_p.E143K	NM_001130442.1|NM_005343.2	NP_001123914.1|NP_005334.1	P01112	RASH_HUMAN	Harvey rat sarcoma viral oncogene homolog	143					actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular senescence (GO:0090398)|chemotaxis (GO:0006935)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|intrinsic apoptotic signaling pathway (GO:0097193)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|mitotic cell cycle checkpoint (GO:0007093)|negative regulation of cell differentiation (GO:0045596)|negative regulation of cell proliferation (GO:0008285)|negative regulation of gene expression (GO:0010629)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of Rho GTPase activity (GO:0034259)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of JNK cascade (GO:0046330)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of miRNA metabolic process (GO:2000630)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rac protein signal transduction (GO:0035022)|positive regulation of ruffle assembly (GO:1900029)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of wound healing (GO:0090303)|protein heterooligomerization (GO:0051291)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|protein C-terminus binding (GO:0008022)			adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225)	901		all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GCCGAGGTCTCGATGTAGGGG	0.677		6	Mis		"infrequent sarcomas, rare other types"	"rhadomyosarcoma, ganglioneuroblastoma, bladder"			Costello syndrome	HNSCC(11;0.0054)																												ENST00000417302.1		6	yes	Dom	yes	Costello syndrome	11	11p15.5	3265	Mis	v-Ha-ras Harvey rat sarcoma viral oncogene homolog			"E, L, M"		"rhadomyosarcoma, ganglioneuroblastoma, bladder"	"infrequent sarcomas, rare other types"		0				adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225)	901						c.(427-429)Gag>Aag		Harvey rat sarcoma viral oncogene homolog	Sulindac(DB00605)						119	115	117					11																	533476		2203	4300	6503	SO:0001583	missense	3265	Costello syndrome	Familial Cancer Database	incl.: Facio-Cutaneous-Skeletal syndrome	activation of MAPKK activity|axon guidance|blood coagulation|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of DNA replication|positive regulation of epithelial cell proliferation|Ras protein signal transduction|synaptic transmission	cytosol|Golgi membrane|plasma membrane	GTP binding|GTPase activity|protein C-terminus binding	g.chr11:533476C>T	AJ437024	CCDS7698.1, CCDS7699.1	11p15.5	2014-09-17	2013-07-08		ENSG00000174775	ENSG00000174775			5173	protein-coding gene	gene with protein product		190020	"v-Ha-ras Harvey rat sarcoma viral oncogene homolog"	HRAS1			Standard	NM_176795		Approved		uc010qvx.2	P01112	OTTHUMG00000131919	ENST00000451590.1:c.427G>A	11.37:g.533476C>T	ENSP00000407586:p.Glu143Lys	HNSCC(11;0.0054)				HRAS_ENST00000397596.2_Missense_Mutation_p.E143K|HRAS_ENST00000451590.1_Missense_Mutation_p.E143K|HRAS_ENST00000397594.1_Missense_Mutation_p.E143K|HRAS_ENST00000311189.7_Missense_Mutation_p.E143K	p.E143K	NM_176795.3	NP_789765.1	P01112	RASH_HUMAN		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)	4	614	-		all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)	143					B5BUA0|Q14080|Q6FHV9|Q9BR65|Q9UCE2	Missense_Mutation	SNP	ENST00000451590.1	37	c.427G>A	CCDS7698.1	.	.	.	.	.	.	.	.	.	.	C	18.01	3.527807	0.64860	.	.	ENSG00000174775	ENST00000397594;ENST00000397596;ENST00000451590;ENST00000417302;ENST00000311189	D;D;D;D;D	0.82893	-1.66;-1.66;-1.66;-1.66;-1.66	4.08	3.14	0.36123	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.91088	0.7195	H	0.97265	3.97	0.80722	D	1	D;D	0.58620	0.983;0.973	P;P	0.52672	0.581;0.706	D	0.92839	0.6287	10	0.72032	D	0.01	.	10.5508	0.45087	0.0:0.9029:0.0:0.0971	.	143;143	P01112-2;P01112	.;RASH_HUMAN	K	143	ENSP00000380722:E143K;ENSP00000380723:E143K;ENSP00000407586:E143K;ENSP00000388246:E143K;ENSP00000309845:E143K	ENSP00000309845:E143K	E	-	1	0	HRAS	523476	1.000000	0.71417	0.379000	0.26080	0.177000	0.22998	5.932000	0.70121	1.997000	0.58415	0.561000	0.74099	GAG		0.677	HRAS-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259403.2	NM_176795		24	127	0	0	0	0.003954	0	24	127					T	533476	C	T	533476	3	4	162	1	0	0	0	0	1	0	0	0	7348	893	31	2	217	2	HRAS	11	533476	Missense_Mutation	SNP	C	TCGA-G9-6361-01A-21D-1961-08		533476	134473040	27	7801											
LRDD	55367	broad.mit.edu	37	chr11	803450	803450	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acccagacctcgcatctgcaGgacacaggccggcagtgtct	9	6	11	15	2	2	1	0	0	2	1	3	2	2	2	3	3	1	3	3	3	0	0			TCGA-G9-6361-01A-21D-1961-08	TCGA-G9-6361-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae721ffe-45da-4029-bcbd-6e218f607de2	1977a26b-0d18-495c-8a57-ac73a2953e90	g.chr11:803450G>A	ENST00000347755.5	-	3	574	c.433C>T	c.(433-435)Ctg>Ttg	p.L145L	PIDD_ENST00000411829.2_Silent_p.L145L|PIDD_ENST00000534649.1_5'UTR	NM_145886.3|NM_145887.3	NP_665893.2|NP_665894.2																					CGCATCTGCAGGACACAGGCC	0.657																																						ENST00000347755.5																			0											c.(433-435)Ctg>Ttg		p53-induced death domain protein							67	70	69					11																	803450		2203	4299	6502	SO:0001819	synonymous_variant	55367				apoptosis|signal transduction	cytoplasm|nucleus	death receptor binding	g.chr11:803450G>A																												ENST00000347755.5:c.433C>T	11.37:g.803450G>A						PIDD_ENST00000534649.1_5'UTR|PIDD_ENST00000411829.2_Silent_p.L145L	p.L145L	NM_145886.3|NM_145887.3	NP_665893.2|NP_665894.2	Q9HB75	PIDD_HUMAN			3	574	-			145						Silent	SNP	ENST00000347755.5	37	c.433C>T	CCDS7716.1																																																																																				0.657	PIDD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257103.1			4	85	0	0	0	0.001168	0	4	85					A	803450	G	A	803450	2	1	162	1	0	0	0	0	0	0	0	1	8936	991	35	3		3	LRDD	11	803450	Silent	SNP	G	TCGA-G9-6361-01A-21D-1961-08	269974	803450	134203066	28	7802											
SYT12	91683	broad.mit.edu	37	chr11	66812168	66812168	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aagaacctcatctggaccaaCgacaagaccacagcgggtaa	16	4	9	12	2	2	2	1	0	1	2	2	4	2	3	3	2	3	1	3	2	5	1	rs371812825		TCGA-G9-6361-01A-21D-1961-08	TCGA-G9-6361-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae721ffe-45da-4029-bcbd-6e218f607de2	1977a26b-0d18-495c-8a57-ac73a2953e90	g.chr11:66812168C>T	ENST00000393946.2	+	9	2104	c.942C>T	c.(940-942)aaC>aaT	p.N314N	SYT12_ENST00000525457.1_Silent_p.N314N|SYT12_ENST00000527043.1_Silent_p.N314N			Q8IV01	SYT12_HUMAN	synaptotagmin XII	314	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.					cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|synapse (GO:0045202)				NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|urinary_tract(1)	20						TCTGGACCAACGACAAGACCA	0.657																																					Ovarian(65;2862 3307)	ENST00000393946.2																			0				NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|urinary_tract(1)	20						c.(940-942)aaC>aaT		synaptotagmin XII							102	84	90					11																	66812168		2200	4295	6495	SO:0001819	synonymous_variant	91683					cell junction|integral to membrane|synaptic vesicle membrane		g.chr11:66812168C>T	AK024280	CCDS8154.1	11q13.2	2014-07-02			ENSG00000173227	ENSG00000173227		"Synaptotagmins"	18381	protein-coding gene	gene with protein product		606436				8987811	Standard	NM_177963		Approved	SRG1	uc001oju.3	Q8IV01	OTTHUMG00000167101	ENST00000393946.2:c.942C>T	11.37:g.66812168C>T						SYT12_ENST00000527043.1_Silent_p.N314N|SYT12_ENST00000525457.1_Silent_p.N314N	p.N314N			Q8IV01	SYT12_HUMAN			9	2104	+			314			C2 2.			Silent	SNP	ENST00000393946.2	37	c.942C>T	CCDS8154.1																																																																																				0.657	SYT12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393129.1	NM_177963		26	67	0	0	0	0.004656	0	26	67					T	66812168	C	T	66812168	2	4	162	1	0	0	0	0	0	0	0	1	15465	535	19	1		1	SYT12	11	66812168	Silent	SNP	C	TCGA-G9-6361-01A-21D-1961-08	66008718	66812168	68194348	29	7803											
TRIM29	23650	broad.mit.edu	37	chr11	120008221	120008221	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttgttgccgatgcaggagtcGcacagcacctcctcggagcc	7	8	12	14	3	0	0	0	0	0	0	3	3	1	2	4	2	4	4	4	2	0	2	rs371202079		TCGA-G9-6361-01A-21D-1961-08	TCGA-G9-6361-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae721ffe-45da-4029-bcbd-6e218f607de2	1977a26b-0d18-495c-8a57-ac73a2953e90	g.chr11:120008221G>A	ENST00000341846.5	-	1	940	c.519C>T	c.(517-519)tgC>tgT	p.C173C		NM_012101.3	NP_036233.2	Q14134	TRI29_HUMAN	tripartite motif containing 29	173					negative regulation of protein localization to nucleus (GO:1900181)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)	sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	30		Breast(109;0.00117)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.37e-06)		TGCAGGAGTCGCACAGCACCT	0.662																																						ENST00000341846.5																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	30						c.(517-519)tgC>tgT		tripartite motif containing 29		G		0,4406		0,0,2203	32	37	36		519	-3	1	11		36	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	TRIM29	NM_012101.3		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		173/589	120008221	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	23650				transcription from RNA polymerase II promoter	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr11:120008221G>A	AF230388	CCDS8428.1	11q23.3	2011-04-20	2011-01-25		ENSG00000137699	ENSG00000137699		"Tripartite motif containing / Tripartite motif containing"	17274	protein-coding gene	gene with protein product	"tripartite motif protein TRIM29", "ataxia-telangiectasia group D-associated protein"	610658	"tripartite motif-containing 29"			11331580	Standard	NM_012101		Approved	ATDC, FLJ36085	uc001pwz.3	Q14134	OTTHUMG00000140377	ENST00000341846.5:c.519C>T	11.37:g.120008221G>A							p.C173C	NM_012101.3	NP_036233.2	Q14134	TRI29_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.37e-06)	1	940	-		Breast(109;0.00117)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	173					Q96AA9|Q9BZY7	Silent	SNP	ENST00000341846.5	37	c.519C>T	CCDS8428.1																																																																																				0.662	TRIM29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277108.2	NM_012101		11	59	0	0	0	0.008291	0	11	59					A	120008221	G	A	120008221	2	1	162	1	0	0	0	0	0	0	0	1	16500	1079	38	1		1	TRIM29	11	120008221	Silent	SNP	G	TCGA-G9-6361-01A-21D-1961-08	53196053	120008221	14998295	30	7804											
SCN8A	6334	broad.mit.edu	37	chr12	52200655	52200655	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tatgagatctgggagaagttCgaccccgatgccacccagtt	10	9	11	11	2	1	2	0	1	1	2	2	6	1	2	4	1	1	2	4	1	2	3			TCGA-G9-6361-01A-21D-1961-08	TCGA-G9-6361-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae721ffe-45da-4029-bcbd-6e218f607de2	1977a26b-0d18-495c-8a57-ac73a2953e90	g.chr12:52200655C>T	ENST00000354534.6	+	27	5563	c.5385C>T	c.(5383-5385)ttC>ttT	p.F1795F	RP11-923I11.3_ENST00000565518.1_lincRNA|SCN8A_ENST00000545061.1_Silent_p.F1754F	NM_001177984.2|NM_014191.3	NP_001171455.1|NP_055006.1	Q9UQD0	SCN8A_HUMAN	sodium channel, voltage gated, type VIII, alpha subunit	1795					adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|membrane depolarization during action potential (GO:0086010)|muscle organ development (GO:0007517)|myelination (GO:0042552)|nervous system development (GO:0007399)|neuromuscular process (GO:0050905)|neuronal action potential (GO:0019228)|peripheral nervous system development (GO:0007422)|response to toxic substance (GO:0009636)|sensory perception of sound (GO:0007605)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon initial segment (GO:0043194)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)|Z disc (GO:0030018)	ATP binding (GO:0005524)|voltage-gated sodium channel activity (GO:0005248)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55				BRCA - Breast invasive adenocarcinoma(357;0.181)	Valproic Acid(DB00313)	GGGAGAAGTTCGACCCCGATG	0.517																																						ENST00000354534.5																			0				breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55						c.(5383-5385)ttC>ttT		sodium channel, voltage gated, type VIII, alpha subunit	Lamotrigine(DB00555)						100	105	103					12																	52200655		2199	4300	6499	SO:0001819	synonymous_variant	6334				axon guidance|myelination|peripheral nervous system development	cytoplasmic membrane-bounded vesicle|node of Ranvier	ATP binding|voltage-gated sodium channel activity	g.chr12:52200655C>T	AB027567	CCDS44891.1, CCDS53794.1	12q13.1	2012-02-26	2007-01-23			ENSG00000196876		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10596	protein-coding gene	gene with protein product		600702	"sodium channel, voltage gated, type VIII, alpha polypeptide"	MED		7670495, 9828131, 16382098	Standard	NM_014191		Approved	Nav1.6, NaCh6, PN4, CerIII	uc001ryw.4	Q9UQD0		ENST00000354534.6:c.5385C>T	12.37:g.52200655C>T						SCN8A_ENST00000545061.1_Silent_p.F1754F	p.F1795F	NM_001177984.2|NM_014191.3	NP_001171455.1|NP_055006.1	Q9UQD0	SCN8A_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.181)	27	5563	+			1795					B9VWG8|O95788|Q9NYX2|Q9UPB2	Silent	SNP	ENST00000354534.6	37	c.5385C>T	CCDS44891.1																																																																																				0.517	SCN8A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404372.3	NM_014191		56	69	0	0	0	0.00361	0	56	69					T	52200655	C	T	52200655	2	4	162	1	0	0	0	0	0	0	0	1	13924	883	31	2		2	SCN8A	12	52200655	Silent	SNP	C	TCGA-G9-6361-01A-21D-1961-08		52200655	81651240	31	7805											
MAP3K12	7786	broad.mit.edu	37	chr12	53878999	53878999	+	Splice_Site	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atagcaccacgccaaaggacCtagggatgaggggacatcac	14	4	12	11	1	1	1	1	1	0	0	1	4	1	4	3	4	1	1	3	4	3	2			TCGA-G9-6361-01A-21D-1961-08	TCGA-G9-6361-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae721ffe-45da-4029-bcbd-6e218f607de2	1977a26b-0d18-495c-8a57-ac73a2953e90	g.chr12:53878999C>G	ENST00000267079.2	-	7	1107		c.e7-1		MAP3K12_ENST00000547035.1_Splice_Site|MAP3K12_ENST00000547488.1_Splice_Site|MAP3K12_ENST00000547151.1_5'Flank	NM_001193511.1|NM_006301.3	NP_001180440.1|NP_006292.3	Q12852	M3K12_HUMAN	mitogen-activated protein kinase kinase kinase 12						histone phosphorylation (GO:0016572)|intracellular signal transduction (GO:0035556)|JNK cascade (GO:0007254)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	37						GCCAAAGGACCTAGGGATGAG	0.542																																						ENST00000267079.2																			0				NS(2)|breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	37						c.e7-1		mitogen-activated protein kinase kinase kinase 12							106	93	98					12																	53878999		2203	4300	6503	SO:0001630	splice_region_variant	7786				histone phosphorylation|JNK cascade|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation	cytosol|membrane fraction|plasma membrane	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding	g.chr12:53878999C>G	U07358	CCDS8860.1, CCDS55831.1	12q13.13	2013-10-30			ENSG00000139625	ENSG00000139625		"Mitogen-activated protein kinase cascade / Kinase kinase kinases"	6851	protein-coding gene	gene with protein product	"dual leucine zipper kinase DLK"	600447		ZPK		8037767	Standard	NM_006301		Approved	MUK, DLK, ZPKP1, MEKK12	uc001sdn.2	Q12852	OTTHUMG00000169854	ENST00000267079.2:c.882-1G>C	12.37:g.53878999C>G						MAP3K12_ENST00000547035.1_Splice_Site|MAP3K12_ENST00000547488.1_Splice_Site		NM_001193511.1|NM_006301.3	NP_001180440.1|NP_006292.3	Q12852	M3K12_HUMAN			7	1107	-								B3KSS9|G3V1Y2|Q86VQ5|Q8WY25	Splice_Site	SNP	ENST00000267079.2	37		CCDS8860.1	.	.	.	.	.	.	.	.	.	.	C	15.50	2.851489	0.51270	.	.	ENSG00000139625	ENST00000267079;ENST00000547488;ENST00000547035	.	.	.	4.67	4.67	0.58626	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.7353	0.85445	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	MAP3K12	52165266	1.000000	0.71417	0.997000	0.53966	0.552000	0.35366	7.794000	0.85869	2.319000	0.78375	0.561000	0.74099	.		0.542	MAP3K12-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000406267.1	NM_006301	Intron	23	50	0	0	0	0.00278	0	23	50					G	53878999	C	G	53878999	5	3	162	1	0	0	0	0	0	0	1	0	9246	695	24	5	1734	5	MAP3K12	12	53878999	Splice_Site	SNP	C	TCGA-G9-6361-01A-21D-1961-08	1678344	53878999	79972896	32	7806											
SHMT2	6472	broad.mit.edu	37	chr12	57626237	57626237	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tgtttgtgtgtctgtccagcCcaaaactggcctcattgact	7	14	9	11	0	2	1	1	1	1	0	3	1	3	1	3	1	2	1	3	1	2	2			TCGA-G9-6361-01A-21D-1961-08	TCGA-G9-6361-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae721ffe-45da-4029-bcbd-6e218f607de2	1977a26b-0d18-495c-8a57-ac73a2953e90	g.chr12:57626237C>T	ENST00000328923.3	+	6	1048	c.596C>T	c.(595-597)cCc>cTc	p.P199L	SHMT2_ENST00000449049.3_Splice_Site_p.P178L|SHMT2_ENST00000414700.3_Splice_Site_p.P178L|SHMT2_ENST00000554600.1_3'UTR|SHMT2_ENST00000553474.1_Splice_Site_p.P178L|SHMT2_ENST00000557487.1_Intron|SHMT2_ENST00000393827.4_Missense_Mutation_p.P103L	NM_001166356.1|NM_005412.5	NP_001159828.1|NP_005403.2	P34897	GLYM_HUMAN	serine hydroxymethyltransferase 2 (mitochondrial)	199					glycine biosynthetic process from serine (GO:0019264)|L-serine biosynthetic process (GO:0006564)|one-carbon metabolic process (GO:0006730)|positive regulation of cell proliferation (GO:0008284)|protein homotetramerization (GO:0051289)|tetrahydrofolate interconversion (GO:0035999)	extracellular vesicular exosome (GO:0070062)|microtubule cytoskeleton (GO:0015630)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	amino acid binding (GO:0016597)|chromatin binding (GO:0003682)|glycine hydroxymethyltransferase activity (GO:0004372)|L-allo-threonine aldolase activity (GO:0008732)|pyridoxal phosphate binding (GO:0030170)			breast(1)|central_nervous_system(1)|large_intestine(4)|liver(2)|lung(3)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	15					Glycine(DB00145)|Tetrahydrofolic acid(DB00116)	TCTGTCCAGCCCAAAACTGGC	0.587																																					Esophageal Squamous(150;1369 2416 49071 49364)	ENST00000393827.4																			0				breast(1)|central_nervous_system(1)|large_intestine(4)|liver(2)|lung(3)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	15						c.(307-309)cCc>cTc		serine hydroxymethyltransferase 2 (mitochondrial)	Glycine(DB00145)|Pyridoxal Phosphate(DB00114)|Tetrahydrofolic acid(DB00116)						102	101	101					12																	57626237		2203	4300	6503	SO:0001630	splice_region_variant	6472					microtubule cytoskeleton|mitochondrial nucleoid	glycine hydroxymethyltransferase activity|methyltransferase activity	g.chr12:57626237C>T	AK223555	CCDS8934.1, CCDS53805.1, CCDS55837.1	12q12-q14	2006-03-27				ENSG00000182199	2.1.2.1		10852	protein-coding gene	gene with protein product		138450		SHMT		8999870	Standard	NM_005412		Approved		uc001snf.2	P34897		ENST00000328923.3:c.595-1C>T	12.37:g.57626237C>T						SHMT2_ENST00000557487.1_Intron|SHMT2_ENST00000554600.1_3'UTR|SHMT2_ENST00000449049.3_Splice_Site_p.P178_splice|SHMT2_ENST00000414700.3_Splice_Site_p.P178_splice|SHMT2_ENST00000328923.3_Splice_Site_p.P199_splice|SHMT2_ENST00000553474.1_Splice_Site_p.P178_splice	p.P103L			P34897	GLYM_HUMAN			5	564	+			199					B7Z9F1|E7EQ19|E7EU43|O00740|Q8N1A5	Missense_Mutation	SNP	ENST00000328923.3	37	c.308C>T	CCDS8934.1	.	.	.	.	.	.	.	.	.	.	C	15.20	2.762605	0.49574	.	.	ENSG00000182199	ENST00000328923;ENST00000555634;ENST00000414700;ENST00000553474;ENST00000554975;ENST00000449049;ENST00000393827	T;T;T;T;T;T;T	0.42131	1.51;0.98;1.51;1.51;1.51;1.51;0.98	4.82	4.82	0.62117	Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.061048	0.64402	D	0.000004	T	0.48003	0.1476	M	0.64170	1.965	0.80722	D	1	P;P;P;D	0.53151	0.505;0.81;0.505;0.958	B;P;B;B	0.47402	0.17;0.546;0.105;0.377	T	0.40384	-0.9566	10	0.27082	T	0.32	-3.4385	17.2132	0.86936	0.0:1.0:0.0:0.0	.	208;103;130;199	B4DWA7;B4DLV4;B4DP88;P34897	.;.;.;GLYM_HUMAN	L	199;38;178;178;178;178;103	ENSP00000333667:P199L;ENSP00000450930:P38L;ENSP00000406881:P178L;ENSP00000452419:P178L;ENSP00000452404:P178L;ENSP00000413770:P178L;ENSP00000377413:P103L	ENSP00000333667:P199L	P	+	2	0	SHMT2	55912504	0.997000	0.39634	0.991000	0.47740	0.510000	0.34073	3.731000	0.55013	2.667000	0.90743	0.563000	0.77884	CCC		0.587	SHMT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412525.2	NM_005412	Missense_Mutation	43	105	0	0	0	0.00874	0	43	105					T	57626237	C	T	57626237	5	4	162	1	0	0	0	0	0	0	1	0	14286	637	22	3	618	3	SHMT2	12	57626237	Splice_Site	SNP	C	TCGA-G9-6361-01A-21D-1961-08	3747238	57626237	76225658	33	7807											
CLYBL	171425	broad.mit.edu	37	chr13	100518573	100518573	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	atagcgaaagcctttggtctCcaagccatagatctggtgta	11	11	10	9	1	2	1	0	0	2	1	3	2	2	1	3	2	3	1	3	2	5	4			TCGA-G9-6361-01A-21D-1961-08	TCGA-G9-6361-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae721ffe-45da-4029-bcbd-6e218f607de2	1977a26b-0d18-495c-8a57-ac73a2953e90	g.chr13:100518573C>A	ENST00000376360.1	+	6	741	c.714C>A	c.(712-714)ctC>ctA	p.L238L	CLYBL_ENST00000376354.1_Silent_p.L204L|CLYBL_ENST00000339105.4_Silent_p.L238L|CLYBL_ENST00000376355.3_Silent_p.L204L|CLYBL_ENST00000444838.2_Silent_p.L204L			Q8N0X4	CLYBL_HUMAN	citrate lyase beta like	238						mitochondrion (GO:0005739)	lyase activity (GO:0016829)|metal ion binding (GO:0046872)			NS(1)|kidney(6)|large_intestine(6)|lung(10)|skin(2)	25	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					CCTTTGGTCTCCAAGCCATAG	0.478																																						ENST00000376355.3																			0				NS(1)|kidney(6)|large_intestine(6)|lung(10)|skin(2)	25						c.(610-612)ctC>ctA		citrate lyase beta like							100	100	100					13																	100518573		2203	4300	6503	SO:0001819	synonymous_variant	171425				cellular aromatic compound metabolic process	citrate lyase complex|mitochondrion	citrate (pro-3S)-lyase activity|metal ion binding	g.chr13:100518573C>A	AF428253	CCDS32002.1	13q32.3	2011-04-08			ENSG00000125246	ENSG00000125246			18355	protein-coding gene	gene with protein product		609686					Standard	XM_005254030		Approved	CLB	uc001vok.3	Q8N0X4	OTTHUMG00000017278	ENST00000376360.1:c.714C>A	13.37:g.100518573C>A						CLYBL_ENST00000376354.1_Silent_p.L204L|CLYBL_ENST00000376360.1_Silent_p.L238L|CLYBL_ENST00000339105.4_Silent_p.L238L|CLYBL_ENST00000444838.2_Silent_p.L204L	p.L204L	NM_206808.2	NP_996531.1	Q8N0X4	CLYBL_HUMAN			5	643	+	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		238					Q5W0F7|Q8TDH8	Silent	SNP	ENST00000376360.1	37	c.612C>A	CCDS32002.1																																																																																				0.478	CLYBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045611.1			28	62	1	0	2.61193e-14	0.009535	3.59757e-14	28	62					A	100518573	C	A	100518573	2	1	162	1	0	0	0	0	0	0	0	1	3573	842	30	5		5	CLYBL	13	100518573	Silent	SNP	C	TCGA-G9-6361-01A-21D-1961-08		100518573	14651305	34	7808											
LOXL1	4016	broad.mit.edu	37	chr15	74219535	74219535	+	Silent	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtggccgtcggggacagcacGggcatggcccgggcccgcac	5	3	18	15	5	0	0	0	0	0	0	1	1	0	1	3	6	1	3	3	6	0	0			TCGA-G9-6361-01A-21D-1961-08	TCGA-G9-6361-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae721ffe-45da-4029-bcbd-6e218f607de2	1977a26b-0d18-495c-8a57-ac73a2953e90	g.chr15:74219535G>C	ENST00000261921.7	+	1	737	c.411G>C	c.(409-411)acG>acC	p.T137T	LOXL1-AS1_ENST00000564194.1_RNA|LOXL1-AS1_ENST00000567257.1_RNA|LOXL1-AS1_ENST00000566675.1_RNA|LOXL1-AS1_ENST00000567644.1_RNA|LOXL1-AS1_ENST00000568087.1_RNA|LOXL1-AS1_ENST00000562739.1_RNA|LOXL1-AS1_ENST00000568229.1_RNA|LOXL1-AS1_ENST00000562965.1_RNA|LOXL1-AS1_ENST00000565416.1_RNA|LOXL1-AS1_ENST00000562130.1_RNA|LOXL1-AS1_ENST00000564963.1_RNA|LOXL1-AS1_ENST00000565756.1_RNA	NM_005576.2	NP_005567.2	Q08397	LOXL1_HUMAN	lysyl oxidase-like 1	137					extracellular matrix organization (GO:0030198)|oxidation-reduction process (GO:0055114)|protein deamination (GO:0018277)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	copper ion binding (GO:0005507)|oxidoreductase activity, acting on the CH-NH2 group of donors, oxygen as acceptor (GO:0016641)	p.T137T(1)		NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10						GGGACAGCACGGGCATGGCCC	0.751																																						ENST00000261921.7																			1	Substitution - coding silent(1)	p.T137T(1)	prostate(1)	NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10						c.(409-411)acG>acC		lysyl oxidase-like 1							10	13	12					15																	74219535		2090	4089	6179	SO:0001819	synonymous_variant	4016				protein deamination	extracellular space	copper ion binding	g.chr15:74219535G>C	L21186	CCDS10253.1	15q24-q25	2008-07-18			ENSG00000129038	ENSG00000129038			6665	protein-coding gene	gene with protein product		153456				7689553	Standard	NM_005576		Approved	LOXL, LOL	uc002awc.1	Q08397	OTTHUMG00000137595	ENST00000261921.7:c.411G>C	15.37:g.74219535G>C						LOXL1-AS1_ENST00000566675.1_RNA|LOXL1-AS1_ENST00000565756.1_RNA|LOXL1-AS1_ENST00000565416.1_RNA|LOXL1-AS1_ENST00000564963.1_RNA|LOXL1-AS1_ENST00000564194.1_RNA|LOXL1-AS1_ENST00000568087.1_RNA|LOXL1-AS1_ENST00000562739.1_RNA|LOXL1-AS1_ENST00000567257.1_RNA|LOXL1-AS1_ENST00000562965.1_RNA	p.T137T	NM_005576.2	NP_005567.2	Q08397	LOXL1_HUMAN			1	737	+			137					Q6NUL3|Q96BW7	Silent	SNP	ENST00000261921.7	37	c.411G>C	CCDS10253.1																																																																																				0.751	LOXL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268995.2	NM_005576		3	56	0	0	0	0.004672	0	3	56					C	74219535	G	C	74219535	2	2	162	1	0	0	0	0	0	0	0	1	8899	1103	39	5		5	LOXL1	15	74219535	Silent	SNP	G	TCGA-G9-6361-01A-21D-1961-08		74219535	28311857	35	7809											
CDK5RAP3	80279	broad.mit.edu	37	chr17	46048774	46048774	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ccagaccagcaagctgctcgGtaggagggggcgccaccgcg	8	3	16	14	4	0	1	0	0	0	1	1	2	0	2	4	4	3	4	4	4	2	1			TCGA-G9-6361-01A-21D-1961-08	TCGA-G9-6361-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae721ffe-45da-4029-bcbd-6e218f607de2	1977a26b-0d18-495c-8a57-ac73a2953e90	g.chr17:46048774G>T	ENST00000338399.4	+	2	158		c.e2+1		RP11-6N17.9_ENST00000582262.1_RNA|CDK5RAP3_ENST00000536708.2_Splice_Site	NM_176096.1	NP_788276.1	Q96JB5	CK5P3_HUMAN	CDK5 regulatory subunit associated protein 3						brain development (GO:0007420)|protein ufmylation (GO:0071569)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of neuron differentiation (GO:0045664)	membrane (GO:0016020)	protein kinase binding (GO:0019901)			NS(1)|central_nervous_system(2)|cervix(3)|endometrium(3)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	18						AAGCTGCTCGGTAGGAGGGGG	0.672																																						ENST00000536708.2																			0				NS(1)|central_nervous_system(2)|cervix(3)|endometrium(3)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	18						c.e2+1		CDK5 regulatory subunit associated protein 3							19	20	20					17																	46048774		2044	4168	6212	SO:0001630	splice_region_variant	80279				brain development|regulation of cyclin-dependent protein kinase activity|regulation of neuron differentiation		neuronal Cdc2-like kinase binding	g.chr17:46048774G>T	AF110322	CCDS42356.1, CCDS62232.1	17q21.2	2008-07-18				ENSG00000108465			18673	protein-coding gene	gene with protein product	"ischemic heart CDK5 activator-binding protein C53", "LXXLL/leucine-zipper-containing ARFbinding protein"	608202				10721722	Standard	NM_176096		Approved	MST016, FLJ13660, C53, IC53, HSF-27, OK/SW-cl.114, LZAP	uc010wlc.3	Q96JB5		ENST00000338399.4:c.52+1G>T	17.37:g.46048774G>T						CDK5RAP3_ENST00000338399.4_Splice_Site|RP11-6N17.9_ENST00000582262.1_RNA		NM_001278197.1	NP_001265126.1	Q96JB5	CK5P3_HUMAN			2	236	+								B7Z6N4|D3DTU1|D3DTU2|F5H3I5|Q53FA2|Q9H3F8|Q9H8G0|Q9HBR9	Splice_Site	SNP	ENST00000338399.4	37		CCDS42356.1	.	.	.	.	.	.	.	.	.	.	G	23.4	4.417635	0.83449	.	.	ENSG00000108465	ENST00000536708;ENST00000338399	.	.	.	4.76	4.76	0.60689	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.2516	0.60055	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CDK5RAP3	43403773	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	8.463000	0.90377	2.213000	0.71641	0.561000	0.74099	.		0.672	CDK5RAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442913.1	NM_176096	Intron	8	17	1	0	1.12685e-05	0.004482	1.44316e-05	8	17					T	46048774	G	T	46048774	5	4	162	1	0	0	0	0	0	0	1	0	3147	1275	44	5	59	5	CDK5RAP3	17	46048774	Splice_Site	SNP	G	TCGA-G9-6361-01A-21D-1961-08		46048774	35146436	36	7810											
OTOP3	347741	broad.mit.edu	37	chr17	72937760	72937760	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgatcttcaacaaggtggccGtcactctgggtgacgtgtgg	7	11	14	9	2	4	2	2	2	2	0	4	2	4	2	1	4	1	0	1	4	2	1	rs573473452		TCGA-G9-6361-01A-21D-1961-08	TCGA-G9-6361-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae721ffe-45da-4029-bcbd-6e218f607de2	1977a26b-0d18-495c-8a57-ac73a2953e90	g.chr17:72937760G>A	ENST00000328801.4	+	2	346	c.346G>A	c.(346-348)Gtc>Atc	p.V116I		NM_178233.1	NP_839947.1	Q7RTS5	OTOP3_HUMAN	otopetrin 3	116						integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	all_lung(278;0.151)|Lung NSC(278;0.185)					CAAGGTGGCCGTCACTCTGGG	0.607																																						ENST00000328801.4																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						c.(346-348)Gtc>Atc		otopetrin 3							81	65	70					17																	72937760		2203	4300	6503	SO:0001583	missense	347741					integral to membrane|intracellular	zinc ion binding	g.chr17:72937760G>A	BK000568	CCDS11709.1	17q25	2004-01-19				ENSG00000182938			19658	protein-coding gene	gene with protein product		607828				12651873	Standard	NM_178233		Approved		uc010wrr.3	Q7RTS5		ENST00000328801.4:c.346G>A	17.37:g.72937760G>A	ENSP00000328090:p.Val116Ile						p.V116I	NM_178233.1	NP_839947.1	Q7RTS5	OTOP3_HUMAN			2	346	+	all_lung(278;0.151)|Lung NSC(278;0.185)		116						Missense_Mutation	SNP	ENST00000328801.4	37	c.346G>A	CCDS11709.1	.	.	.	.	.	.	.	.	.	.	G	4.020	0.001174	0.07819	.	.	ENSG00000182938	ENST00000328801	T	0.09630	2.96	4.86	-8.39	0.00969	.	1.266200	0.05586	N	0.573688	T	0.05777	0.0151	N	0.13352	0.335	0.22001	N	0.999421	B	0.19331	0.035	B	0.14578	0.011	T	0.45086	-0.9285	10	0.07813	T	0.8	-18.1317	16.4073	0.83684	0.6924:0.0:0.3076:0.0	.	116	Q7RTS5	OTOP3_HUMAN	I	116	ENSP00000328090:V116I	ENSP00000328090:V116I	V	+	1	0	OTOP3	70449355	0.001000	0.12720	0.029000	0.17559	0.566000	0.35808	-0.158000	0.10070	-1.621000	0.01562	-1.244000	0.01528	GTC		0.607	OTOP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445308.1	NM_178233		11	83	0	0	0	0.001855	0	11	83					A	72937760	G	A	72937760	3	1	162	1	0	0	0	0	1	0	0	0	11307	1145	40	1	352	1	OTOP3	17	72937760	Missense_Mutation	SNP	G	TCGA-G9-6361-01A-21D-1961-08	26888986	72937760	8257450	37	7811											
C3	718	broad.mit.edu	37	chr19	6707522	6707522	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgcacggaacggcgtcggcGggcggctggctgcgggcact	4	5	19	13	7	0	0	0	0	0	0	1	1	0	1	0	7	3	4	0	7	1	0			TCGA-G9-6361-01A-21D-1961-08	TCGA-G9-6361-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae721ffe-45da-4029-bcbd-6e218f607de2	1977a26b-0d18-495c-8a57-ac73a2953e90	g.chr19:6707522G>A	ENST00000245907.6	-	16	2094	c.2002C>T	c.(2002-2004)Cgc>Tgc	p.R668C		NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3	668					complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|fatty acid metabolic process (GO:0006631)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of activation of membrane attack complex (GO:0001970)|positive regulation of angiogenesis (GO:0045766)|positive regulation of apoptotic cell clearance (GO:2000427)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)|positive regulation of glucose transport (GO:0010828)|positive regulation of lipid storage (GO:0010884)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of type IIa hypersensitivity (GO:0001798)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of complement activation (GO:0030449)|regulation of immune response (GO:0050776)|regulation of triglyceride biosynthetic process (GO:0010866)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	C5L2 anaphylatoxin chemotactic receptor binding (GO:0031715)|endopeptidase inhibitor activity (GO:0004866)|receptor binding (GO:0005102)			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)	Intravenous Immunoglobulin(DB00028)	CGGCGTCGGCGGGCGGCTGGC	0.652																																						ENST00000245907.6																			0				breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72						c.(2002-2004)Cgc>Tgc		complement component 3							39	49	46					19																	6707522		2203	4299	6502	SO:0001583	missense	718				complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding	g.chr19:6707522G>A	J04763	CCDS32883.1	19p13.3-p13.2	2014-09-17			ENSG00000125730	ENSG00000125730	3.4.21.43	"Complement system", "Endogenous ligands"	1318	protein-coding gene	gene with protein product	"C3a anaphylatoxin", "complement component C3a", "complement component C3b", "prepro-C3"	120700					Standard	NM_000064		Approved	CPAMD1, ARMD9, C3a, C3b	uc002mfm.3	P01024	OTTHUMG00000150335	ENST00000245907.6:c.2002C>T	19.37:g.6707522G>A	ENSP00000245907:p.Arg668Cys						p.R668C	NM_000064.2	NP_000055.2	P01024	CO3_HUMAN		GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)	16	2094	-			668					A7E236	Missense_Mutation	SNP	ENST00000245907.6	37	c.2002C>T	CCDS32883.1	.	.	.	.	.	.	.	.	.	.	G	18.51	3.638739	0.67130	.	.	ENSG00000125730	ENST00000245907	T	0.52983	0.64	4.98	3.91	0.45181	.	0.300945	0.29212	N	0.012813	T	0.73377	0.3579	M	0.93375	3.41	0.25057	N	0.991091	D	0.89917	1.0	D	0.74348	0.983	T	0.68307	-0.5443	10	0.87932	D	0	.	10.5395	0.45024	0.0:0.0:0.8067:0.1933	.	668	P01024	CO3_HUMAN	C	668	ENSP00000245907:R668C	ENSP00000245907:R668C	R	-	1	0	C3	6658522	0.679000	0.27596	0.962000	0.40283	0.188000	0.23474	1.240000	0.32731	1.043000	0.40175	0.609000	0.83330	CGC		0.652	C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317636.2	NM_000064		7	114	0	0	0	0.001984	0	7	114					A	6707522	G	A	6707522	3	1	162	1	0	0	0	0	1	0	0	0	2204	1116	39	2	3093	2	C3	19	6707522	Missense_Mutation	SNP	G	TCGA-G9-6361-01A-21D-1961-08		6707522	52421461	38	7812											
QTRT1	81890	broad.mit.edu	37	chr19	10812880	10812880	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccgctccccctacgacggcaAtgagaccctgctgagcccgg	7	5	11	18	4	0	2	0	2	0	1	1	4	1	2	5	2	3	3	5	2	2	1			TCGA-G9-6361-01A-21D-1961-08	TCGA-G9-6361-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae721ffe-45da-4029-bcbd-6e218f607de2	1977a26b-0d18-495c-8a57-ac73a2953e90	g.chr19:10812880A>G	ENST00000250237.5	+	3	411	c.401A>G	c.(400-402)aAt>aGt	p.N134S	QTRT1_ENST00000585885.1_3'UTR	NM_031209.2	NP_112486.1	Q9BXR0	TGT_HUMAN	queuine tRNA-ribosyltransferase 1	134					queuosine biosynthetic process (GO:0008616)|tRNA modification (GO:0006400)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|queuine tRNA-ribosyltransferase activity (GO:0008479)			large_intestine(2)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	12			Epithelial(33;1.55e-05)|all cancers(31;3.42e-05)			TACGACGGCAATGAGACCCTG	0.637																																						ENST00000250237.5																			0				large_intestine(2)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	12						c.(400-402)aAt>aGt		queuine tRNA-ribosyltransferase 1							53	55	54					19																	10812880		2203	4300	6503	SO:0001583	missense	81890				queuosine biosynthetic process	mitochondrion|nucleus|ribosome	metal ion binding|queuine tRNA-ribosyltransferase activity	g.chr19:10812880A>G	AF302783	CCDS12248.1	19p13.3	2014-06-11	2008-07-31		ENSG00000213339	ENSG00000213339	2.4.2.29		23797	protein-coding gene	gene with protein product	"tRNA-guanine transglycosylase"	609615				20354154	Standard	NM_031209		Approved	TGT	uc002mpr.3	Q9BXR0		ENST00000250237.5:c.401A>G	19.37:g.10812880A>G	ENSP00000250237:p.Asn134Ser					QTRT1_ENST00000585885.1_3'UTR	p.N134S	NM_031209.2	NP_112486.1	Q9BXR0	TGT_HUMAN	Epithelial(33;1.55e-05)|all cancers(31;3.42e-05)		3	411	+			134					B4DFM7|Q96BQ4|Q9BXQ9	Missense_Mutation	SNP	ENST00000250237.5	37	c.401A>G	CCDS12248.1	.	.	.	.	.	.	.	.	.	.	A	2.192	-0.385148	0.04966	.	.	ENSG00000213339	ENST00000250237;ENST00000421333	.	.	.	5.37	1.86	0.25419	.	0.717075	0.12561	U	0.458192	T	0.02970	0.0088	N	0.00013	-2.945	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.39165	-0.9627	9	0.02654	T	1	-4.3628	8.0729	0.30699	0.729:0.1857:0.0854:0.0	.	134	Q9BXR0	TGT_HUMAN	S	134	.	ENSP00000250237:N134S	N	+	2	0	QTRT1	10673880	0.015000	0.18098	0.007000	0.13788	0.869000	0.49853	2.523000	0.45580	0.310000	0.22990	-0.450000	0.05554	AAT		0.637	QTRT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452086.1	NM_031209		25	58	0	0	0	0.007291	0	25	58					G	10812880	A	G	10812880	3	3	162	1	0	0	0	0	1	0	0	0	12885	101	4	4	411	4	QTRT1	19	10812880	Missense_Mutation	SNP	A	TCGA-G9-6361-01A-21D-1961-08	4105358	10812880	48316103	39	7813											
SIPA1L3	23094	broad.mit.edu	37	chr19	38643547	38643547	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gccacgatgggacgtccagcGgcgactcctcttccggcggc	5	6	14	16	6	1	0	0	0	1	0	4	3	4	1	4	4	1	0	4	4	0	1			TCGA-G9-6361-01A-21D-1961-08	TCGA-G9-6361-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae721ffe-45da-4029-bcbd-6e218f607de2	1977a26b-0d18-495c-8a57-ac73a2953e90	g.chr19:38643547G>A	ENST00000222345.6	+	13	4110	c.3601G>A	c.(3601-3603)Ggc>Agc	p.G1201S		NM_015073.1	NP_055888.1	O60292	SI1L3_HUMAN	signal-induced proliferation-associated 1 like 3	1201					hematopoietic progenitor cell differentiation (GO:0002244)|regulation of small GTPase mediated signal transduction (GO:0051056)	extracellular space (GO:0005615)	GTPase activator activity (GO:0005096)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			GACGTCCAGCGGCGACTCCTC	0.662																																						ENST00000222345.6																			0				NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59						c.(3601-3603)Ggc>Agc		signal-induced proliferation-associated 1 like 3							108	101	103					19																	38643547		2203	4300	6503	SO:0001583	missense	23094				regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity	g.chr19:38643547G>A	AB011117	CCDS33007.1	19q13.13	2008-02-05			ENSG00000105738	ENSG00000105738			23801	protein-coding gene	gene with protein product							Standard	XM_005258671		Approved	KIAA0545	uc002ohk.3	O60292	OTTHUMG00000073727	ENST00000222345.6:c.3601G>A	19.37:g.38643547G>A	ENSP00000222345:p.Gly1201Ser						p.G1201S	NM_015073.1	NP_055888.1	O60292	SI1L3_HUMAN	Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)		13	4110	+			1201					Q2TV87	Missense_Mutation	SNP	ENST00000222345.6	37	c.3601G>A	CCDS33007.1	.	.	.	.	.	.	.	.	.	.	G	18.05	3.536527	0.65085	.	.	ENSG00000105738	ENST00000222345	T	0.42513	0.97	5.2	5.2	0.72013	.	0.534308	0.18211	N	0.148173	T	0.38612	0.1047	L	0.46157	1.445	0.51767	D	0.999936	B	0.22541	0.071	B	0.16289	0.015	T	0.14227	-1.0480	10	0.38643	T	0.18	-35.8173	15.6558	0.77133	0.0:0.0:1.0:0.0	.	1201	O60292	SI1L3_HUMAN	S	1201	ENSP00000222345:G1201S	ENSP00000222345:G1201S	G	+	1	0	SIPA1L3	43335387	1.000000	0.71417	1.000000	0.80357	0.675000	0.39556	5.505000	0.66981	2.430000	0.82344	0.467000	0.42956	GGC		0.662	SIPA1L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000156294.2	XM_032278		6	119	0	0	0	0.00308	0	6	119					A	38643547	G	A	38643547	3	1	162	1	0	0	0	0	1	0	0	0	14331	1116	39	2	3643	2	SIPA1L3	19	38643547	Missense_Mutation	SNP	G	TCGA-G9-6361-01A-21D-1961-08	27830667	38643547	20485436	40	7814											
SYT5	6861	broad.mit.edu	37	chr19	55687185	55687185	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tagacccgcacataggggtcCgaggagccaccaagatccaa	13	4	11	13	2	0	2	0	0	0	2	2	4	2	3	5	3	1	1	5	3	4	2			TCGA-G9-6361-01A-21D-1961-08	TCGA-G9-6361-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae721ffe-45da-4029-bcbd-6e218f607de2	1977a26b-0d18-495c-8a57-ac73a2953e90	g.chr19:55687185C>T	ENST00000354308.3	-	5	801	c.432G>A	c.(430-432)tcG>tcA	p.S144S	SYT5_ENST00000592935.1_5'Flank|CTD-2587H24.5_ENST00000591665.1_RNA|SYT5_ENST00000537500.1_Silent_p.S144S|SYT5_ENST00000590851.1_Silent_p.S141S	NM_003180.2	NP_003171.2	O00445	SYT5_HUMAN	synaptotagmin V	144	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.				calcium ion-dependent exocytosis (GO:0017156)|energy reserve metabolic process (GO:0006112)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|dense core granule (GO:0031045)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|synaptic vesicle (GO:0008021)	calcium-dependent phospholipid binding (GO:0005544)|metal ion binding (GO:0046872)|transporter activity (GO:0005215)			kidney(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	18			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0452)		CATAGGGGTCCGAGGAGCCAC	0.622																																						ENST00000354308.3																			0				kidney(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	18						c.(430-432)tcG>tcA		synaptotagmin V							83	85	85					19																	55687185		2203	4300	6503	SO:0001819	synonymous_variant	6861				energy reserve metabolic process|regulation of insulin secretion|synaptic transmission	cell junction|integral to membrane|recycling endosome membrane|synaptic vesicle membrane	metal ion binding|transporter activity	g.chr19:55687185C>T	X96783	CCDS12919.1, CCDS74455.1	19q13.42	2014-07-02			ENSG00000129990	ENSG00000129990		"Synaptotagmins"	11513	protein-coding gene	gene with protein product	"synaptotagmin 5"	600782				9177789	Standard	XM_006723338		Approved		uc002qjn.1	O00445	OTTHUMG00000180669	ENST00000354308.3:c.432G>A	19.37:g.55687185C>T						SYT5_ENST00000590851.1_Silent_p.S141S|SYT5_ENST00000537500.1_Silent_p.S144S|CTD-2587H24.5_ENST00000591665.1_RNA	p.S144S	NM_003180.2	NP_003171.2	O00445	SYT5_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0452)	5	801	-			144			C2 1.		B3KWJ8|B7Z300|Q86X72	Silent	SNP	ENST00000354308.3	37	c.432G>A	CCDS12919.1																																																																																				0.622	SYT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452501.1	NM_003180		40	68	0	0	0	0.007835	0	40	68					T	55687185	C	T	55687185	2	4	162	1	0	0	0	0	0	0	0	1	15474	639	23	2		2	SYT5	19	55687185	Silent	SNP	C	TCGA-G9-6361-01A-21D-1961-08	17043638	55687185	3441798	41	7815											
KRTAP11-1	337880	broad.mit.edu	37	chr21	32253539	32253539	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tagagacaaaggtgagcggcCggctgtaggtagttgagcag	11	7	17	6	2	0	3	0	2	0	1	0	4	0	3	1	4	2	5	1	4	4	4	rs199869279		TCGA-G9-6361-01A-21D-1961-08	TCGA-G9-6361-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae721ffe-45da-4029-bcbd-6e218f607de2	1977a26b-0d18-495c-8a57-ac73a2953e90	g.chr21:32253539C>T	ENST00000332378.4	-	1	335	c.305G>A	c.(304-306)cGg>cAg	p.R102Q		NM_175858.2	NP_787054.1	Q8IUC1	KR111_HUMAN	keratin associated protein 11-1	102						keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(12)|pancreas(1)	18						GGTGAGCGGCCGGCTGTAGGT	0.562																																						ENST00000332378.4																			0				breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(12)|pancreas(1)	18						c.(304-306)cGg>cAg		keratin associated protein 11-1		C	GLN/ARG	3,4403	6.2+/-15.9	0,3,2200	76	76	76		305	3.4	0.6	21		76	0,8600		0,0,4300	yes	missense	KRTAP11-1	NM_175858.2	43	0,3,6500	TT,TC,CC		0.0,0.0681,0.0231	benign	102/164	32253539	3,13003	2203	4300	6503	SO:0001583	missense	0					keratin filament	structural molecule activity	g.chr21:32253539C>T	AJ457065	CCDS13608.1	21q22.1	2003-03-11			ENSG00000182591	ENSG00000182591		"Keratin associated proteins"	18922	protein-coding gene	gene with protein product		600064				12359730	Standard	NM_175858		Approved	KAP11.1	uc002yov.3	Q8IUC1	OTTHUMG00000057773	ENST00000332378.4:c.305G>A	21.37:g.32253539C>T	ENSP00000330720:p.Arg102Gln						p.R102Q	NM_175858.2	NP_787054.1	Q8IUC1	KR111_HUMAN			1	335	-			102					A1L4I8	Missense_Mutation	SNP	ENST00000332378.4	37	c.305G>A	CCDS13608.1	.	.	.	.	.	.	.	.	.	.	C	8.678	0.904333	0.17760	6.81E-4	0.0	ENSG00000182591	ENST00000332378	T	0.03301	3.98	5.25	3.43	0.39272	.	0.663319	0.13432	N	0.388317	T	0.02688	0.0081	N	0.25647	0.755	0.31417	N	0.674792	P	0.37781	0.608	B	0.31290	0.127	T	0.33007	-0.9885	10	0.13853	T	0.58	-3.189	10.3388	0.43864	0.0:0.8358:0.0:0.1642	.	102	Q8IUC1	KR111_HUMAN	Q	102	ENSP00000330720:R102Q	ENSP00000330720:R102Q	R	-	2	0	KRTAP11-1	31175410	0.989000	0.36119	0.634000	0.29324	0.391000	0.30476	0.811000	0.27198	0.732000	0.32470	0.650000	0.86243	CGG		0.562	KRTAP11-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128225.1			36	51	0	0	0	0.003271	0	36	51					T	32253539	C	T	32253539	3	4	162	1	0	0	0	0	1	0	0	0	8517	652	23	2	190	2	KRTAP11-1	21	32253539	Missense_Mutation	SNP	C	TCGA-G9-6361-01A-21D-1961-08		32253539	15876356	42	7816											
NHS	4810	broad.mit.edu	37	chrX	17705984	17705984	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggaggagctgcaccgccacGcccggcagagcctgcaagcc	8	3	14	16	3	0	1	0	0	0	1	0	3	0	3	5	3	5	4	5	3	1	0	rs78153843	byFrequency	TCGA-G9-6361-01A-21D-1961-08	TCGA-G9-6361-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae721ffe-45da-4029-bcbd-6e218f607de2	1977a26b-0d18-495c-8a57-ac73a2953e90	g.chrX:17705984G>A	ENST00000380060.3	+	2	1026	c.688G>A	c.(688-690)Gcc>Acc	p.A230T	NHS_ENST00000398097.3_Missense_Mutation_p.A53T	NM_198270.2	NP_938011.1	Q6T4R5	NHS_HUMAN	Nance-Horan syndrome (congenital cataracts and dental anomalies)	230	WAVE homology domain (WHD).				cell differentiation (GO:0030154)|lens development in camera-type eye (GO:0002088)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|tight junction (GO:0005923)				breast(5)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(26)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	71	Hepatocellular(33;0.183)					GCACCGCCACGCCCGGCAGAG	0.647													G|||	2	0.000529801	0.0015	0	3775	,	,		11017	0		0	False		,,,				2504	0					ENST00000380060.3																			0				breast(5)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(26)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	71						c.(688-690)Gcc>Acc		Nance-Horan syndrome (congenital cataracts and dental anomalies)		G	THR/ALA,THR/ALA	9,3826		0,8,1,1624,570	39	34	36		157,688	4.8	0.8	X	dbSNP_131	36	0,6728		0,0,0,2428,1872	yes	missense,missense	NHS	NM_001136024.2,NM_198270.2	58,58	0,8,1,4052,2442	AA,AG,A,GG,G		0.0,0.2347,0.0852	possibly-damaging,possibly-damaging	53/1475,230/1631	17705984	9,10554	2203	4300	6503	SO:0001583	missense	4810					nucleus		g.chrX:17705984G>A		CCDS14181.1, CCDS48087.1	Xp22.3-p21.1	2014-06-18			ENSG00000188158	ENSG00000188158			7820	protein-coding gene	gene with protein product		300457					Standard	NM_001136024		Approved		uc004cxx.3	Q6T4R5	OTTHUMG00000022799	ENST00000380060.3:c.688G>A	X.37:g.17705984G>A	ENSP00000369400:p.Ala230Thr					NHS_ENST00000398097.3_Missense_Mutation_p.A53T	p.A230T	NM_198270.2	NP_938011.1	Q6T4R5	NHS_HUMAN			2	1026	+	Hepatocellular(33;0.183)		230					B7ZVX8|E2DH69|Q5J7Q0|Q5J7Q1|Q68DR5	Missense_Mutation	SNP	ENST00000380060.3	37	c.688G>A	CCDS14181.1	1	6.027727546714888E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	25.9	4.688918	0.88735	0.002347	0.0	ENSG00000188158	ENST00000380060;ENST00000398097;ENST00000380057	T;T	0.81163	-1.46;-0.83	5.63	4.75	0.60458	.	0.056759	0.64402	D	0.000001	D	0.88837	0.6545	M	0.81497	2.545	0.58432	D	0.999999	D;D;D;D	0.76494	0.999;0.995;0.995;0.999	P;P;P;P	0.62014	0.897;0.855;0.855;0.897	D	0.90173	0.4237	10	0.87932	D	0	-14.7866	15.4853	0.75560	0.0:0.1352:0.8648:0.0	.	230;51;53;230	B7ZVX8;C9IYM8;Q6T4R5-2;Q6T4R5	.;.;.;NHS_HUMAN	T	230;53;51	ENSP00000369400:A230T;ENSP00000381170:A53T	ENSP00000369397:A51T	A	+	1	0	NHS	17615905	1.000000	0.71417	0.759000	0.31340	0.664000	0.39144	9.476000	0.97823	1.088000	0.41272	0.513000	0.50165	GCC		0.647	NHS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059120.1	NM_198270		8	28	0	0	0	0.006214	0	8	28					A	17705984	G	A	17705984	3	1	162	1	0	0	0	0	1	0	0	0	10411	1087	38	1	732	1	NHS	23	17705984	Missense_Mutation	SNP	G	TCGA-G9-6361-01A-21D-1961-08		17705984	137564576	43	7817											
LUZP4	51213	broad.mit.edu	37	chrX	114541233	114541233	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcagagagatctcatagccaCtcagagagatctcatagtca	14	9	8	10	0	5	4	5	0	2	4	7	6	5	4	1	0	1	0	1	0	2	2			TCGA-G9-6361-01A-21D-1961-08	TCGA-G9-6361-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae721ffe-45da-4029-bcbd-6e218f607de2	1977a26b-0d18-495c-8a57-ac73a2953e90	g.chrX:114541233C>T	ENST00000371920.3	+	4	813	c.806C>T	c.(805-807)aCt>aTt	p.T269I	LUZP4_ENST00000451986.2_Missense_Mutation_p.T187I	NM_016383.3	NP_057467.1	Q9P127	LUZP4_HUMAN	leucine zipper protein 4	269						nucleus (GO:0005634)				endometrium(1)|large_intestine(2)|lung(4)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	14						CTCATAGCCACTCAGAGAGAT	0.468																																						ENST00000371920.3																			0				endometrium(1)|large_intestine(2)|lung(4)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	14						c.(805-807)aCt>aTt		leucine zipper protein 4							112	99	103					X																	114541233		2203	4300	6503	SO:0001583	missense	51213					nucleus		g.chrX:114541233C>T	AF124430	CCDS14567.1	Xq24	2009-03-25			ENSG00000102021	ENSG00000102021			24971	protein-coding gene	gene with protein product	"cancer/testis antigen 28"	300616				12032826, 11051238	Standard	XM_005268343		Approved	HOM-TES-85, CT-8, CT28	uc004eqa.3	Q9P127	OTTHUMG00000022234	ENST00000371920.3:c.806C>T	X.37:g.114541233C>T	ENSP00000360988:p.Thr269Ile					LUZP4_ENST00000451986.2_Missense_Mutation_p.T187I	p.T269I	NM_016383.3	NP_057467.1	Q9P127	LUZP4_HUMAN			4	813	+			269					B3KSD6	Missense_Mutation	SNP	ENST00000371920.3	37	c.806C>T	CCDS14567.1	.	.	.	.	.	.	.	.	.	.	c	12.74	2.029920	0.35797	.	.	ENSG00000102021	ENST00000451986;ENST00000371920	T;T	0.78003	-1.14;-1.14	3.69	-7.38	0.01407	.	2.510280	0.02048	N	0.049818	T	0.59514	0.2199	L	0.27053	0.805	0.09310	N	1	B;B	0.20550	0.046;0.041	B;B	0.17722	0.014;0.019	T	0.46359	-0.9197	10	0.72032	D	0.01	.	0.1785	0.00121	0.3185:0.2167:0.2251:0.2397	.	187;269	B3KSD6;Q9P127	.;LUZP4_HUMAN	I	187;269	ENSP00000411212:T187I;ENSP00000360988:T269I	ENSP00000360988:T269I	T	+	2	0	LUZP4	114447489	0.000000	0.05858	0.000000	0.03702	0.325000	0.28411	-3.678000	0.00395	-2.832000	0.00339	0.284000	0.19432	ACT		0.468	LUZP4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057972.1	NM_016383		49	21	0	0	0	0.00361	0	49	21					T	114541233	C	T	114541233	3	4	162	1	0	0	0	0	1	0	0	0	9088	565	20	3	820	3	LUZP4	23	114541233	Missense_Mutation	SNP	C	TCGA-G9-6361-01A-21D-1961-08	96835249	114541233	40729327	44	7818											
GABRA3	2556	broad.mit.edu	37	chrX	151514068	151514068	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgacctccaagcccaggtcGcagccggttgtcatagccgt	7	8	11	15	3	1	1	1	1	0	0	3	1	2	1	5	2	3	2	5	2	2	2			TCGA-G9-6361-01A-21D-1961-08	TCGA-G9-6361-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae721ffe-45da-4029-bcbd-6e218f607de2	1977a26b-0d18-495c-8a57-ac73a2953e90	g.chrX:151514068G>A	ENST00000370314.4	-	3	485	c.247C>T	c.(247-249)Cga>Tga	p.R83*	GABRA3_ENST00000535043.1_Nonsense_Mutation_p.R83*	NM_000808.3	NP_000799.1	P34903	GBRA3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 3	83					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	benzodiazepine receptor activity (GO:0008503)|chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(6)	37	Acute lymphoblastic leukemia(192;6.56e-05)				Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)|Zolpidem(DB00425)|Zopiclone(DB01198)	AGCCCAGGTCGCAGCCGGTTG	0.453																																					NSCLC(142;2578 2613 10251 16743)	ENST00000370314.4																			0				breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(6)	37						c.(247-249)Cga>Tga		gamma-aminobutyric acid (GABA) A receptor, alpha 3	Alprazolam(DB00404)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)						111	101	104					X																	151514068		2203	4300	6503	SO:0001587	stop_gained	2556				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding	g.chrX:151514068G>A		CCDS14706.1	Xq28	2012-06-22			ENSG00000011677	ENSG00000011677		"GABA receptors", "Ligand-gated ion channels / GABA(A) receptors"	4077	protein-coding gene	gene with protein product	"GABA(A) receptor, alpha 3"	305660					Standard	NM_000808		Approved		uc010ntk.1	P34903	OTTHUMG00000024183	ENST00000370314.4:c.247C>T	X.37:g.151514068G>A	ENSP00000359337:p.Arg83*					GABRA3_ENST00000535043.1_Nonsense_Mutation_p.R83*|GABRA3_ENST00000370311.1_Nonsense_Mutation_p.R83*	p.R83*	NM_000808.3	NP_000799.1	P34903	GBRA3_HUMAN			3	485	-	Acute lymphoblastic leukemia(192;6.56e-05)		83					Q8TAF9	Nonsense_Mutation	SNP	ENST00000370314.4	37	c.247C>T	CCDS14706.1	.	.	.	.	.	.	.	.	.	.	G	38	6.995830	0.97990	.	.	ENSG00000011677	ENST00000370314;ENST00000370311;ENST00000535043	.	.	.	5.71	1.29	0.21616	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.1017	0.59224	0.0:0.0:0.2522:0.7478	.	.	.	.	X	83	.	ENSP00000359334:R83X	R	-	1	2	GABRA3	151264724	0.958000	0.32768	0.879000	0.34478	0.958000	0.62258	1.456000	0.35201	0.160000	0.19432	0.509000	0.49947	CGA		0.453	GABRA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060921.1	NM_000808		4	55	0	0	0	0.009096	0	4	55					A	151514068	G	A	151514068	4	1	162	1	0	0	0	0	0	1	0	0	6162	1095	38	1	1263	1	GABRA3	23	151514068	Nonsense_Mutation	SNP	G	TCGA-G9-6361-01A-21D-1961-08	36972835	151514068	3756492	45	7819											
DVL1	1855	broad.mit.edu	37	chr1	1271546	1271546	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atgatgtccacgaagaactcGcaggggttccccatagcctt	10	9	10	12	2	0	2	0	1	0	1	3	3	2	2	4	2	2	2	4	2	3	3			TCGA-G9-6362-01A-11D-1786-08	TCGA-G9-6362-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a3aeec-d8b4-49fe-bf4a-8727ce1d8c06	365931c6-7328-42e9-919f-3b96847af1cc	g.chr1:1271546G>A	ENST00000378888.5	-	15	2348	c.2064C>T	c.(2062-2064)tgC>tgT	p.C688C	DVL1_ENST00000378891.5_Silent_p.C663C			O14640	DVL1_HUMAN	dishevelled segment polarity protein 1	688					axon extension (GO:0048675)|axon guidance (GO:0007411)|canonical Wnt signaling pathway (GO:0060070)|cochlea morphogenesis (GO:0090103)|collateral sprouting (GO:0048668)|convergent extension (GO:0060026)|convergent extension involved in neural plate elongation (GO:0022007)|cytoplasmic microtubule organization (GO:0031122)|dendrite morphogenesis (GO:0048813)|intracellular signal transduction (GO:0035556)|negative regulation of protein binding (GO:0032091)|negative regulation of protein kinase activity (GO:0006469)|neural tube development (GO:0021915)|neuromuscular junction development (GO:0007528)|neurotransmitter secretion (GO:0007269)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of neuron projection development (GO:0010976)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway (GO:0030177)|prepulse inhibition (GO:0060134)|protein localization to microtubule (GO:0035372)|protein localization to nucleus (GO:0034504)|receptor clustering (GO:0043113)|regulation of neurotransmitter levels (GO:0001505)|skeletal muscle acetylcholine-gated channel clustering (GO:0071340)|social behavior (GO:0035176)|synapse organization (GO:0050808)|transcription from RNA polymerase II promoter (GO:0006366)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	axon (GO:0030424)|cell cortex (GO:0005938)|clathrin-coated vesicle (GO:0030136)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|growth cone (GO:0030426)|microtubule (GO:0005874)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|synapse (GO:0045202)	enzyme binding (GO:0019899)|frizzled binding (GO:0005109)|identical protein binding (GO:0042802)|protein kinase binding (GO:0019901)|Rac GTPase binding (GO:0048365)	p.C663C(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	13	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;2.83e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.77e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		CGAAGAACTCGCAGGGGTTCC	0.692																																						ENST00000378888.5																			1	Substitution - coding silent(1)	p.C663C(1)	prostate(1)	endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	13						c.(2062-2064)tgC>tgT		dishevelled segment polarity protein 1																																				SO:0001819	synonymous_variant	1855				canonical Wnt receptor signaling pathway|dendrite morphogenesis|intracellular signal transduction|negative regulation of protein binding|negative regulation of protein kinase activity|neural tube development|neuromuscular junction development|neurotransmitter secretion|positive regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway|protein localization to nucleus|receptor clustering|transcription from RNA polymerase II promoter|Wnt receptor signaling pathway, planar cell polarity pathway	cytoplasmic membrane-bounded vesicle|cytosol|plasma membrane|synapse|synaptosome	frizzled binding|identical protein binding|protein kinase binding|signal transducer activity	g.chr1:1271546G>A	AF006011	CCDS22.1	1p36	2013-05-22	2013-05-22		ENSG00000107404	ENSG00000107404		"Dishevelled homologs"	3084	protein-coding gene	gene with protein product		601365	"dishevelled 1 (homologous to Drosophila dsh)", "dishevelled, dsh homolog 1 (Drosophila)"			8817329	Standard	NM_004421		Approved		uc001aer.4	O14640	OTTHUMG00000003069	ENST00000378888.5:c.2064C>T	1.37:g.1271546G>A						DVL1_ENST00000378891.5_Silent_p.C663C	p.C688C			O14640	DVL1_HUMAN		Epithelial(90;2.83e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.77e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)	15	2348	-	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)	688					Q5TA33|Q5TA35	Silent	SNP	ENST00000378888.5	37	c.2064C>T																																																																																					0.692	DVL1-004	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000008490.1	NM_004421		3	11	0	0	0	0.014758	0	3	11					A	1271546	G	A	1271546	2	1	163	1	0	0	0	0	0	0	0	1	4835	1079	38	1		1	DVL1	1	1271546	Silent	SNP	G	TCGA-G9-6362-01A-11D-1786-08		1271546	247979075	1	7820											
ZMYM1	79830	broad.mit.edu	37	chr1	35579021	35579021	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gaattttggagagaataccaAttttgtgatggagctgtcag	12	13	12	4	0	1	2	1	1	0	1	1	6	1	4	1	2	2	1	1	2	4	5	rs567658292		TCGA-G9-6362-01A-11D-1786-08	TCGA-G9-6362-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a3aeec-d8b4-49fe-bf4a-8727ce1d8c06	365931c6-7328-42e9-919f-3b96847af1cc	g.chr1:35579021A>G	ENST00000373330.1	+	11	1764	c.1590A>G	c.(1588-1590)caA>caG	p.Q530Q	ZMYM1_ENST00000359858.4_Silent_p.Q530Q|ZMYM1_ENST00000373329.1_3'UTR			Q5SVZ6	ZMYM1_HUMAN	zinc finger, MYM-type 1	530						nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)	p.Q530Q(1)		NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(8)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				GAGAATACCAATTTTGTGATG	0.318													A|||	1	0.000199681	0	0	5008	,	,		17693	0		0	False		,,,				2504	0.001					ENST00000373330.1																			1	Substitution - coding silent(1)	p.Q530Q(1)	prostate(1)	NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(8)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	31						c.(1588-1590)caA>caG		zinc finger, MYM-type 1							110	110	110					1																	35579021		1810	4085	5895	SO:0001819	synonymous_variant	79830					nucleus	nucleic acid binding|protein dimerization activity|zinc ion binding	g.chr1:35579021A>G	AK096206	CCDS41302.1	1p34.3	2008-05-02	2005-09-12		ENSG00000197056	ENSG00000197056		"Zinc fingers, MYM type"	26253	protein-coding gene	gene with protein product			"zinc finger, MYM domain containing 1"			12477932	Standard	XM_005271216		Approved	FLJ23151, MYM	uc001bym.3	Q5SVZ6	OTTHUMG00000004374	ENST00000373330.1:c.1590A>G	1.37:g.35579021A>G						ZMYM1_ENST00000359858.4_Silent_p.Q530Q|ZMYM1_ENST00000373329.1_3'UTR	p.Q530Q			Q5SVZ6	ZMYM1_HUMAN			11	1764	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)	530					D3DPR7|Q7Z3Q4	Silent	SNP	ENST00000373330.1	37	c.1590A>G	CCDS41302.1																																																																																				0.318	ZMYM1-001	NOVEL	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012705.1	NM_024772		16	181	0	0	0	0.043863	0	16	181					G	35579021	A	G	35579021	2	3	163	1	0	0	0	0	0	0	0	1	17696	98	4	4		4	ZMYM1	1	35579021	Silent	SNP	A	TCGA-G9-6362-01A-11D-1786-08	34307475	35579021	213671600	2	7821											
SYCP1	6847	broad.mit.edu	37	chr1	115454198	115454198	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctaaaaactgagcttgaaaaCgagaagtatgttttccattt	15	13	7	6	1	0	3	0	2	0	1	1	4	1	3	1	0	3	3	1	0	7	6	rs148948913	byFrequency	TCGA-G9-6362-01A-11D-1786-08	TCGA-G9-6362-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a3aeec-d8b4-49fe-bf4a-8727ce1d8c06	365931c6-7328-42e9-919f-3b96847af1cc	g.chr1:115454198C>T	ENST00000369522.3	+	18	1764	c.1524C>T	c.(1522-1524)aaC>aaT	p.N508N	SYCP1_ENST00000369518.1_Silent_p.N508N	NM_001282541.1|NM_003176.2	NP_001269470.1|NP_003167.2	Q15431	SYCP1_HUMAN	synaptonemal complex protein 1	508				IQLTAITTSEQYYSKEVKDLKTELENEK -> YSYCHYHKW TVLPKRGQRPKLSSKRE (in Ref. 2; BAA22586). {ECO:0000305}.	chiasma assembly (GO:0051026)|lateral element assembly (GO:0051878)|meiotic DNA repair synthesis (GO:0000711)|reciprocal meiotic recombination (GO:0007131)|regulation of protein localization (GO:0032880)|sperm chromatin condensation (GO:0035092)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)	central element (GO:0000801)|male germ cell nucleus (GO:0001673)|transverse filament (GO:0000802)	DNA binding (GO:0003677)	p.N508N(1)	RGS22/SYCP1(2)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48	Lung SC(450;0.211)	all_cancers(81;8.65e-08)|all_epithelial(167;3.32e-07)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		AGCTTGAAAACGAGAAGTATG	0.249													T|||	2	0.000399361	0.0015	0	5008	,	,		13609	0		0	False		,,,				2504	0					ENST00000369522.3																		RGS22/SYCP1(2)	1	Substitution - coding silent(1)	p.N508N(1)	prostate(1)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48						c.(1522-1524)aaC>aaT		synaptonemal complex protein 1		T		17,4387	812.1+/-416.1	0,17,2185	60	60	60		1524	-0.3	1	1	dbSNP_134	60	1,8573	809.3+/-407.2	0,1,4286	no	coding-synonymous	SYCP1	NM_003176.2		0,18,6471	TT,TC,CC		0.0117,0.386,0.1387		508/977	115454198	18,12960	2202	4287	6489	SO:0001819	synonymous_variant	6847				cell division|reciprocal meiotic recombination|spermatogenesis|synaptonemal complex assembly		DNA binding	g.chr1:115454198C>T	D67035	CCDS879.1, CCDS72840.1	1p13-p12	2009-03-12			ENSG00000198765	ENSG00000198765			11487	protein-coding gene	gene with protein product	"cancer/testis antigen 8"	602162				9560255	Standard	XM_005271154		Approved	HOM-TES-14, SCP1, CT8	uc001efr.3	Q15431	OTTHUMG00000012057	ENST00000369522.3:c.1524C>T	1.37:g.115454198C>T						SYCP1_ENST00000369518.1_Silent_p.N508N	p.N508N	NM_003176.2	NP_003167.2	Q15431	SYCP1_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	18	1764	+	Lung SC(450;0.211)	all_cancers(81;8.65e-08)|all_epithelial(167;3.32e-07)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221)	508	IQLTAITTSEQYYSKEVKDLKTELENEK -> YSYCHYHKW TVLPKRGQRPKLSSKRE (in Ref. 2; BAA22586).				O14963|Q5VXJ6	Silent	SNP	ENST00000369522.3	37	c.1524C>T	CCDS879.1																																																																																				0.249	SYCP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033386.1	NM_003176		19	20	0	0	0	0.043863	0	19	20					T	115454198	C	T	115454198	2	4	163	1	0	0	0	0	0	0	0	1	15428	535	19	1		1	SYCP1	1	115454198	Silent	SNP	C	TCGA-G9-6362-01A-11D-1786-08	79875177	115454198	133796423	3	7822											
TXNIP	10628	broad.mit.edu	37	chr1	145439910	145439910	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtggatctggtggatgtcaaTacccctgatttaatggtgag	9	13	13	6	0	2	2	1	2	1	0	2	4	2	4	2	4	1	0	2	4	3	3			TCGA-G9-6362-01A-11D-1786-08	TCGA-G9-6362-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a3aeec-d8b4-49fe-bf4a-8727ce1d8c06	365931c6-7328-42e9-919f-3b96847af1cc	g.chr1:145439910T>C	ENST00000369317.4	+	3	790	c.456T>C	c.(454-456)aaT>aaC	p.N152N	TXNIP_ENST00000475171.1_Intron	NM_006472.3	NP_006463.3	Q9H3M7	TXNIP_HUMAN	thioredoxin interacting protein	152					cell cycle (GO:0007049)|cellular response to tumor cell (GO:0071228)|innate immune response (GO:0045087)|keratinocyte differentiation (GO:0030216)|negative regulation of cell division (GO:0051782)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|protein import into nucleus (GO:0006606)|regulation of cell proliferation (GO:0042127)|response to calcium ion (GO:0051592)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to glucose (GO:0009749)|response to hydrogen peroxide (GO:0042542)|response to mechanical stimulus (GO:0009612)|response to progesterone (GO:0032570)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrial intermembrane space (GO:0005758)|nucleus (GO:0005634)	enzyme inhibitor activity (GO:0004857)|ubiquitin protein ligase binding (GO:0031625)	p.N152N(1)		breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(1)|lung(5)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	21	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					TGGATGTCAATACCCCTGATT	0.433																																						ENST00000369317.4																			1	Substitution - coding silent(1)	p.N152N(1)	prostate(1)	breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(1)|lung(5)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	21						c.(454-456)aaT>aaC		thioredoxin interacting protein							88	93	91					1																	145439910		2203	4300	6503	SO:0001819	synonymous_variant	10628				cell cycle|keratinocyte differentiation|transcription, DNA-dependent		ubiquitin protein ligase binding	g.chr1:145439910T>C	S73591	CCDS72876.1	1q11	2008-07-18			ENSG00000117289	ENSG00000265972			16952	protein-coding gene	gene with protein product	"upregulated by 1,25-dihydroxyvitamin D-3", "thioredoxin binding protein 2"	606599				8086474	Standard	NM_006472		Approved	VDUP1, EST01027, HHCPA78, THIF	uc001enn.4	Q9H3M7	OTTHUMG00000013755	ENST00000369317.4:c.456T>C	1.37:g.145439910T>C						TXNIP_ENST00000475171.1_Intron	p.N152N	NM_006472.3	NP_006463.3	Q9H3M7	TXNIP_HUMAN			3	790	+	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		152					B4E3D3|Q16226|Q6PML0|Q9BXG9	Silent	SNP	ENST00000369317.4	37	c.456T>C	CCDS913.1																																																																																				0.433	TXNIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038547.1	NM_006472		32	128	0	0	0	0.045705	0	32	128					C	145439910	T	C	145439910	2	2	163	1	0	0	0	0	0	0	0	1	16800	1403	49	4		4	TXNIP	1	145439910	Silent	SNP	T	TCGA-G9-6362-01A-11D-1786-08	29985712	145439910	103810711	4	7823											
LELP1	149018	broad.mit.edu	37	chr1	153177307	153177307	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtttaaagaagctgctgcaaCgctgtttcgaaaagtgccca	12	10	10	9	2	0	1	0	0	0	1	1	2	0	1	1	0	5	6	1	0	6	3	rs573106359		TCGA-G9-6362-01A-11D-1786-08	TCGA-G9-6362-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a3aeec-d8b4-49fe-bf4a-8727ce1d8c06	365931c6-7328-42e9-919f-3b96847af1cc	g.chr1:153177307C>T	ENST00000368747.1	+	2	234	c.124C>T	c.(124-126)Cgc>Tgc	p.R42C		NM_001010857.1	NP_001010857.1	Q5T871	LELP1_HUMAN	late cornified envelope-like proline-rich 1	42	Cys/Pro-rich.							p.R42C(2)		NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(9)|ovary(1)|pancreas(1)|prostate(1)	19	all_lung(78;3.51e-31)|Lung NSC(65;1.34e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			GCTGCTGCAACGCTGTTTCGA	0.552													C|||	1	0.000199681	0	0	5008	,	,		19136	0		0	False		,,,				2504	0.001					ENST00000368747.1																			2	Substitution - Missense(2)	p.R42C(2)	large_intestine(1)|prostate(1)	NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(9)|ovary(1)|pancreas(1)|prostate(1)	19						c.(124-126)Cgc>Tgc		late cornified envelope-like proline-rich 1							172	150	157					1																	153177307		2203	4300	6503	SO:0001583	missense	149018							g.chr1:153177307C>T		CCDS30869.1	1q21.3	2008-02-05			ENSG00000203784	ENSG00000203784			32046	protein-coding gene	gene with protein product		611042					Standard	NM_001010857		Approved		uc001fbl.4	Q5T871	OTTHUMG00000013935	ENST00000368747.1:c.124C>T	1.37:g.153177307C>T	ENSP00000357736:p.Arg42Cys						p.R42C	NM_001010857.1	NP_001010857.1	Q5T871	LELP1_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		2	234	+	all_lung(78;3.51e-31)|Lung NSC(65;1.34e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		42			Cys/Pro-rich.		A1L4E1	Missense_Mutation	SNP	ENST00000368747.1	37	c.124C>T	CCDS30869.1	.	.	.	.	.	.	.	.	.	.	C	8.982	0.975532	0.18736	.	.	ENSG00000203784	ENST00000368747	.	.	.	5.41	3.53	0.40419	.	0.000000	0.39407	N	0.001373	T	0.60235	0.2253	.	.	.	0.38639	D	0.951557	D	0.89917	1.0	D	0.67382	0.951	T	0.64153	-0.6474	8	0.56958	D	0.05	-16.5011	6.4963	0.22144	0.1797:0.7304:0.0:0.0899	.	42	Q5T871	LELP1_HUMAN	C	42	.	ENSP00000357736:R42C	R	+	1	0	LELP1	151443931	0.972000	0.33761	0.994000	0.49952	0.613000	0.37349	0.691000	0.25467	0.826000	0.34661	0.561000	0.74099	CGC		0.552	LELP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039104.1	NM_001010857		13	178	0	0	0	0.105934	0	13	178					T	153177307	C	T	153177307	3	4	163	1	0	0	0	0	1	0	0	0	8718	536	19	1	126	1	LELP1	1	153177307	Missense_Mutation	SNP	C	TCGA-G9-6362-01A-11D-1786-08	7737397	153177307	96073314	5	7824											
OR10K2	391107	broad.mit.edu	37	chr1	158390384	158390384	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcacagcccaggaaagaaatGgtcttcttctgggacagcag	12	7	12	10	0	3	1	0	0	3	1	3	3	3	3	1	3	2	2	1	3	2	2			TCGA-G9-6362-01A-11D-1786-08	TCGA-G9-6362-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a3aeec-d8b4-49fe-bf4a-8727ce1d8c06	365931c6-7328-42e9-919f-3b96847af1cc	g.chr1:158390384G>T	ENST00000314902.2	-	1	272	c.273C>A	c.(271-273)acC>acA	p.T91T		NM_001004476.1	NP_001004476.1	Q6IF99	O10K2_HUMAN	olfactory receptor, family 10, subfamily K, member 2	91						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.T91T(1)		NS(1)|breast(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(19)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_hematologic(112;0.0378)					GGAAAGAAATGGTCTTCTTCT	0.478																																						ENST00000314902.2																			1	Substitution - coding silent(1)	p.T91T(1)	prostate(1)	NS(1)|breast(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(19)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(271-273)acC>acA		olfactory receptor, family 10, subfamily K, member 2							180	175	177					1																	158390384		2203	4298	6501	SO:0001819	synonymous_variant	391107				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158390384G>T	AB065642	CCDS30896.1	1q23.1	2012-08-09			ENSG00000180708	ENSG00000180708		"GPCR / Class A : Olfactory receptors"	14826	protein-coding gene	gene with protein product							Standard	NM_001004476		Approved		uc010pii.2	Q6IF99	OTTHUMG00000019638	ENST00000314902.2:c.273C>A	1.37:g.158390384G>T							p.T91T	NM_001004476.1	NP_001004476.1	Q6IF99	O10K2_HUMAN			1	272	-	all_hematologic(112;0.0378)		91						Silent	SNP	ENST00000314902.2	37	c.273C>A	CCDS30896.1																																																																																				0.478	OR10K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051854.1	NM_001004476		17	262	1	0	9.16793e-09	0.0333	1.01726e-08	17	262					T	158390384	G	T	158390384	2	4	163	1	0	0	0	0	0	0	0	1	10914	1335	47	5		5	OR10K2	1	158390384	Silent	SNP	G	TCGA-G9-6362-01A-11D-1786-08	5213077	158390384	90860237	6	7825											
PRG4	10216	broad.mit.edu	37	chr1	186276640	186276640	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggaacctgcacccaccaccAccaagaagcctgcacccacc	13	2	6	20	0	0	1	0	0	0	1	0	2	0	2	8	1	4	2	8	1	3	0			TCGA-G9-6362-01A-11D-1786-08	TCGA-G9-6362-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a3aeec-d8b4-49fe-bf4a-8727ce1d8c06	365931c6-7328-42e9-919f-3b96847af1cc	g.chr1:186276640A>C	ENST00000445192.2	+	7	1834	c.1789A>C	c.(1789-1791)Acc>Ccc	p.T597P	PRG4_ENST00000367483.4_Missense_Mutation_p.T556P|PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367485.4_Missense_Mutation_p.T504P|PRG4_ENST00000367486.3_Missense_Mutation_p.T554P	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	597	59 X 8 AA repeats of K-X-P-X-P-T-T-X.				cell proliferation (GO:0008283)|hematopoietic stem cell proliferation (GO:0071425)|immune response (GO:0006955)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|regulation of cell proliferation (GO:0042127)	extracellular space (GO:0005615)	polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)	p.T597P(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						ACCCACCACCACCAAGAAGCC	0.652																																						ENST00000445192.2																			1	Substitution - Missense(1)	p.T597P(1)	prostate(1)	NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						c.(1789-1791)Acc>Ccc		proteoglycan 4							87	83	85					1																	186276640		2203	4300	6503	SO:0001583	missense	10216				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity	g.chr1:186276640A>C	U70136	CCDS1369.1, CCDS44287.1, CCDS44288.1	1q25-q31	2008-07-18	2004-11-15		ENSG00000116690	ENSG00000116690			9364	protein-coding gene	gene with protein product	"lubricin", "megakaryocyte stimulating factor", "articular superficial zone protein", "Jacobs camptodactyly-arthropathy-pericarditis syndrome", "camptodactyly, arthropathy, coxa vara, pericarditis syndrome", "bG174L6.2 (MSF: megakaryocyte stimulating factor )"	604283	"proteoglycan 4, (megakaryocyte stimulating factor, articular superficial zone protein, camptodactyly, arthropathy, coxa vara, pericarditis syndrome)"	CACP		10545950, 9920774	Standard	NM_005807		Approved	JCAP, SZP, MSF, HAPO, bG174L6.2, FLJ32635	uc001gru.4	Q92954	OTTHUMG00000035574	ENST00000445192.2:c.1789A>C	1.37:g.186276640A>C	ENSP00000399679:p.Thr597Pro					PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367485.4_Missense_Mutation_p.T504P|PRG4_ENST00000367483.4_Missense_Mutation_p.T556P|PRG4_ENST00000367486.3_Missense_Mutation_p.T554P	p.T597P	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN			7	1834	+			597			59 X 8 AA repeats of K-X-P-X-P-T-T-X.		Q6DNC4|Q6DNC5|Q6ZMZ5|Q9BX49	Missense_Mutation	SNP	ENST00000445192.2	37	c.1789A>C	CCDS1369.1	.	.	.	.	.	.	.	.	.	.	A	1.907	-0.451678	0.04572	.	.	ENSG00000116690	ENST00000367486;ENST00000367482;ENST00000367483;ENST00000367485;ENST00000445192	T;T;T;T	0.04360	3.64;3.75;3.64;3.73	2.4	-2.78	0.05859	.	0.762931	0.10621	N	0.653340	T	0.01189	0.0039	N	0.00465	-1.465	0.09310	N	1	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.01281	0.0;0.0;0.0;0.0	T	0.47736	-0.9094	9	.	.	.	.	7.4224	0.27079	0.6922:0.2055:0.0:0.1023	.	463;504;597;556	Q92954-4;Q92954-3;Q92954;Q92954-2	.;.;PRG4_HUMAN;.	P	554;463;556;504;597	ENSP00000356456:T554P;ENSP00000356453:T556P;ENSP00000356455:T504P;ENSP00000399679:T597P	.	T	+	1	0	PRG4	184543263	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.955000	0.00675	-1.097000	0.03042	-4.201000	0.00009	ACC		0.652	PRG4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000086346.1	NM_005807		6	69	0	0	0	0.047766	0	6	69					C	186276640	A	C	186276640	3	2	163	1	0	0	0	0	1	0	0	0	12481	159	6	5	1811	5	PRG4	1	186276640	Missense_Mutation	SNP	A	TCGA-G9-6362-01A-11D-1786-08	27886256	186276640	62973981	7	7826											
NFASC	23114	broad.mit.edu	37	chr1	204985573	204985573	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgaagacggctccttcatcgGccagtacacggtcaaaaagg	12	7	11	11	3	2	2	2	1	0	1	4	2	3	2	2	4	1	2	2	4	4	2			TCGA-G9-6362-01A-11D-1786-08	TCGA-G9-6362-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a3aeec-d8b4-49fe-bf4a-8727ce1d8c06	365931c6-7328-42e9-919f-3b96847af1cc	g.chr1:204985573G>A	ENST00000401399.1	+	29	3828	c.3629G>A	c.(3628-3630)gGc>gAc	p.G1210D	NFASC_ENST00000404076.1_Missense_Mutation_p.G1127D|NFASC_ENST00000367171.4_Missense_Mutation_p.G1302D|NFASC_ENST00000338586.6_Missense_Mutation_p.G1194D|NFASC_ENST00000539706.1_Missense_Mutation_p.G1144D|NFASC_ENST00000367172.4_Missense_Mutation_p.G1317D|NFASC_ENST00000360049.4_Missense_Mutation_p.G1139D|NFASC_ENST00000339876.6_Missense_Mutation_p.G1210D|NFASC_ENST00000513543.1_Missense_Mutation_p.G1139D|NFASC_ENST00000495396.1_3'UTR|NFASC_ENST00000338515.6_Missense_Mutation_p.G1227D|NFASC_ENST00000367169.4_Missense_Mutation_p.G1041D|NFASC_ENST00000404907.1_Missense_Mutation_p.G1144D|NFASC_ENST00000367170.4_Missense_Mutation_p.G1238D			O94856	NFASC_HUMAN	neurofascin	1317					axon guidance (GO:0007411)|clustering of voltage-gated sodium channels (GO:0045162)|heterotypic cell-cell adhesion (GO:0034113)|myelination (GO:0042552)|paranodal junction assembly (GO:0030913)|peripheral nervous system development (GO:0007422)|protein localization to juxtaparanode region of axon (GO:0071205)|protein localization to paranode region of axon (GO:0002175)|synapse organization (GO:0050808)|transmission of nerve impulse (GO:0019226)	axon initial segment (GO:0043194)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|node of Ranvier (GO:0033268)|paranodal junction (GO:0033010)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)		p.G1139D(1)|p.G1210D(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	81	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			TCCTTCATCGGCCAGTACACG	0.562																																						ENST00000367172.4																			2	Substitution - Missense(2)	p.G1139D(1)|p.G1210D(1)	prostate(2)	NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	81						c.(3949-3951)gGc>gAc		neurofascin							183	162	169					1																	204985573		2203	4300	6503	SO:0001583	missense	23114				axon guidance|cell adhesion|myelination|peripheral nervous system development	integral to membrane|node of Ranvier|plasma membrane	protein binding	g.chr1:204985573G>A	AK027553	CCDS30982.1, CCDS53460.1, CCDS53461.1, CCDS53462.1	1q32.1	2013-02-11	2010-06-24		ENSG00000163531	ENSG00000163531		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	29866	protein-coding gene	gene with protein product		609145	"neurofascin homolog (chicken)"			1377696, 8672144	Standard	NM_015090		Approved	NRCAML, KIAA0756, FLJ46866, NF	uc001hbj.3	O94856	OTTHUMG00000151697	ENST00000401399.1:c.3629G>A	1.37:g.204985573G>A	ENSP00000385637:p.Gly1210Asp					NFASC_ENST00000495396.1_3'UTR|NFASC_ENST00000338515.6_Missense_Mutation_p.G1227D|NFASC_ENST00000367171.4_Missense_Mutation_p.G1302D|NFASC_ENST00000367170.4_Missense_Mutation_p.G1238D|NFASC_ENST00000404076.1_Missense_Mutation_p.G1127D|NFASC_ENST00000339876.6_Missense_Mutation_p.G1210D|NFASC_ENST00000539706.1_Missense_Mutation_p.G1144D|NFASC_ENST00000360049.4_Missense_Mutation_p.G1139D|NFASC_ENST00000404907.1_Missense_Mutation_p.G1144D|NFASC_ENST00000338586.6_Missense_Mutation_p.G1194D|NFASC_ENST00000513543.1_Missense_Mutation_p.G1139D|NFASC_ENST00000401399.1_Missense_Mutation_p.G1210D|NFASC_ENST00000367169.4_Missense_Mutation_p.G1041D	p.G1317D			O94856	NFASC_HUMAN	KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)		32	4278	+	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		1317					B2RNN8|B3KQZ1|B5MDP6|B5MDR6|B7ZMD8|Q149P5|Q5T2F0|Q5T2F1|Q5T2F2|Q5T2F3|Q5T2F4|Q5T2F5|Q5T2F6|Q5T2F7|Q5T2F9|Q5T2G0|Q5W9F8|Q68DH3|Q6ZQV6|Q7Z3K1|Q96HT1|Q96K50	Missense_Mutation	SNP	ENST00000401399.1	37	c.3950G>A	CCDS53460.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	33|33	5.275914|5.275914	0.95459|0.95459	.|.	.|.	ENSG00000163531|ENSG00000163531	ENST00000367173;ENST00000425360|ENST00000367172;ENST00000367171;ENST00000367170;ENST00000338515;ENST00000339876;ENST00000338586;ENST00000295776;ENST00000539706;ENST00000360049;ENST00000367169;ENST00000404076;ENST00000401399;ENST00000404907;ENST00000513543;ENST00000430393;ENST00000447819	.|D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	.|0.89343	.|-2.5;-2.5;-2.5;-2.5;-2.5;-2.5;-2.5;-2.5;-2.5;-2.5;-2.5;-2.5;-2.5;-2.5;-2.5	5.34|5.34	5.34|5.34	0.76211|0.76211	.|.	.|0.000000	.|0.52532	.|D	.|0.000080	D|D	0.94794|0.94794	0.8319|0.8319	M|M	0.81497|0.81497	2.545|2.545	0.41277|0.41277	D|D	0.986882|0.986882	.|D;D;D;D;D;D;D	.|0.89917	.|1.0;1.0;1.0;0.996;1.0;1.0;1.0	.|D;D;D;D;D;D;D	.|0.97110	.|1.0;1.0;1.0;0.996;0.997;0.999;1.0	D|D	0.95412|0.95412	0.8499|0.8499	5|10	.|0.87932	.|D	.|0	.|.	18.6493|18.6493	0.91425|0.91425	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|1317;1159;1144;1194;1036;1210;1139	.|O94856;O94856-11;O94856-8;F8W8X7;O94856-4;O94856-9;O94856-3	.|NFASC_HUMAN;.;.;.;.;.;.	T|D	1011;268|1317;1302;1238;1227;1210;1194;1159;1144;1139;1041;1127;1210;1144;1139;1135;188	.|ENSP00000356140:G1317D;ENSP00000356139:G1302D;ENSP00000356138:G1238D;ENSP00000342128:G1227D;ENSP00000344786:G1210D;ENSP00000343509:G1194D;ENSP00000438614:G1144D;ENSP00000353154:G1139D;ENSP00000356137:G1041D;ENSP00000385676:G1127D;ENSP00000385637:G1210D;ENSP00000384061:G1144D;ENSP00000425908:G1139D;ENSP00000415031:G1135D;ENSP00000416891:G188D	.|ENSP00000295776:G1159D	A|G	+|+	1|2	0|0	NFASC|NFASC	203252196|203252196	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	9.835000|9.835000	0.99442|0.99442	2.484000|2.484000	0.83849|0.83849	0.563000|0.563000	0.77884|0.77884	GCC|GGC		0.562	NFASC-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000131237.1	NM_001005388		4	128	0	0	0	0.009096	0	4	128					A	204985573	G	A	204985573	3	1	163	1	0	0	0	0	1	0	0	0	10359	1203	42	3	4152	3	NFASC	1	204985573	Missense_Mutation	SNP	G	TCGA-G9-6362-01A-11D-1786-08	18708933	204985573	44265048	8	7827											
TTN	7273	broad.mit.edu	37	chr2	179412022	179412022	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acctcaggtctggtaggagcGcttggtgggactaaatataa	11	10	13	7	1	2	0	1	0	1	0	2	2	2	2	1	5	1	2	1	5	5	5	rs373502790		TCGA-G9-6362-01A-11D-1786-08	TCGA-G9-6362-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a3aeec-d8b4-49fe-bf4a-8727ce1d8c06	365931c6-7328-42e9-919f-3b96847af1cc	g.chr2:179412022G>A	ENST00000591111.1	-	290	89531	c.89307C>T	c.(89305-89307)agC>agT	p.S29769S	TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000589042.1_Silent_p.S31410S|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Silent_p.S22537S|TTN_ENST00000342992.6_Silent_p.S28842S|TTN-AS1_ENST00000590807.1_RNA|RP11-65L3.2_ENST00000603415.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Silent_p.S22470S|TTN_ENST00000460472.2_Silent_p.S22345S			Q8WZ42	TITIN_HUMAN	titin	29769					adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.S22345S(2)|p.S22470S(1)|p.S28840S(1)|p.S22537S(1)|p.S28842S(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGGTAGGAGCGCTTGGTGGGA	0.378																																						ENST00000589042.1																			6	Substitution - coding silent(6)	p.S22345S(2)|p.S22470S(1)|p.S28840S(1)|p.S22537S(1)|p.S28842S(1)	prostate(6)	NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(94228-94230)agC>agT		titin		G	,,,	0,3710		0,0,1855	88	83	85		67035,86526,67410,67611	-0.5	1	2		85	1,8205		0,1,4102	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	TTN	NM_003319.4,NM_133378.4,NM_133432.3,NM_133437.3	,,,	0,1,5957	AA,AG,GG		0.0122,0.0,0.0084	,,,	22345/26927,28842/33424,22470/27052,22537/27119	179412022	1,11915	1855	4103	5958	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179412022G>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.89307C>T	2.37:g.179412022G>A						TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000342175.6_Silent_p.S22537S|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000460472.2_Silent_p.S22345S|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000591111.1_Silent_p.S29769S|TTN_ENST00000359218.5_Silent_p.S22470S|TTN_ENST00000342992.6_Silent_p.S28842S|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590807.1_RNA	p.S31410S	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		340	94454	-			29769			Fibronectin type-III 129.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	ENST00000591111.1	37	c.94230C>T																																																																																					0.378	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		17	111	0	0	0	0.028581	0	17	111					A	179412022	G	A	179412022	2	1	163	1	0	0	0	0	0	0	0	1	16732	1078	38	1		1	TTN	2	179412022	Silent	SNP	G	TCGA-G9-6362-01A-11D-1786-08		179412022	63787351	9	7828											
TTN	7273	broad.mit.edu	37	chr2	179435374	179435374	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gactggtggcaaagtcggtgCtctttatttctaatcgagct	8	14	11	8	2	2	0	0	0	2	0	4	2	2	0	0	3	2	3	0	3	3	4			TCGA-G9-6362-01A-11D-1786-08	TCGA-G9-6362-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a3aeec-d8b4-49fe-bf4a-8727ce1d8c06	365931c6-7328-42e9-919f-3b96847af1cc	g.chr2:179435374C>G	ENST00000591111.1	-	276	70786	c.70562G>C	c.(70561-70563)aGc>aCc	p.S23521T	TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.S25162T|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.S16289T|TTN_ENST00000342992.6_Missense_Mutation_p.S22594T|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.S16222T|TTN_ENST00000460472.2_Missense_Mutation_p.S16097T			Q8WZ42	TITIN_HUMAN	titin	23521	Ig-like 119.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.S16097T(2)|p.S22594T(1)|p.S16222T(1)|p.S16289T(1)|p.S22592T(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AAAGTCGGTGCTCTTTATTTC	0.408																																						ENST00000589042.1																			6	Substitution - Missense(6)	p.S16097T(2)|p.S22594T(1)|p.S16222T(1)|p.S16289T(1)|p.S22592T(1)	prostate(6)	NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(75484-75486)aGc>aCc		titin							164	149	154					2																	179435374		1919	4118	6037	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179435374C>G	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.70562G>C	2.37:g.179435374C>G	ENSP00000465570:p.Ser23521Thr					TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.S16289T|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.S16097T|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.S23521T|TTN_ENST00000359218.5_Missense_Mutation_p.S16222T|TTN_ENST00000342992.6_Missense_Mutation_p.S22594T|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590807.1_RNA	p.S25162T	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		326	75709	-			23521			Fibronectin type-III 83.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.75485G>C		.	.	.	.	.	.	.	.	.	.	C	10.57	1.388248	0.25118	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.66995	-0.24;-0.24;-0.24;-0.24	5.63	5.63	0.86233	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.48677	0.1513	N	0.11927	0.2	0.40809	D	0.983407	B;B;B;B	0.21071	0.051;0.051;0.051;0.051	B;B;B;B	0.19946	0.027;0.027;0.027;0.027	T	0.50355	-0.8838	9	0.87932	D	0	.	10.4053	0.44254	0.0:0.7937:0.1351:0.0711	.	16097;16222;16289;23521	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	T	22594;16097;16289;16222;16095	ENSP00000343764:S22594T;ENSP00000434586:S16097T;ENSP00000340554:S16289T;ENSP00000352154:S16222T	ENSP00000340554:S16289T	S	-	2	0	TTN	179143620	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	2.142000	0.42177	2.799000	0.96334	0.650000	0.86243	AGC		0.408	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		36	71	0	0	0	0.064281	0	36	71					G	179435374	C	G	179435374	3	3	163	1	0	0	0	0	1	0	0	0	16732	797	28	5	32642	5	TTN	2	179435374	Missense_Mutation	SNP	C	TCGA-G9-6362-01A-11D-1786-08	23352	179435374	63763999	10	7829											
P4HTM	54681	broad.mit.edu	37	chr3	49028271	49028271	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gcgccttttccttaggtgggGcacgagcgtaaggtccagct	6	10	14	11	3	0	0	0	0	0	0	2	1	2	0	3	4	2	3	3	4	2	4			TCGA-G9-6362-01A-11D-1786-08	TCGA-G9-6362-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a3aeec-d8b4-49fe-bf4a-8727ce1d8c06	365931c6-7328-42e9-919f-3b96847af1cc	g.chr3:49028271G>A	ENST00000383729.4	+	2	731	c.360G>A	c.(358-360)ggG>ggA	p.G120G	P4HTM_ENST00000343546.4_Silent_p.G120G|RP13-131K19.2_ENST00000452042.1_RNA|P4HTM_ENST00000609406.1_3'UTR	NM_177939.2	NP_808808.1	Q9NXG6	P4HTM_HUMAN	prolyl 4-hydroxylase, transmembrane (endoplasmic reticulum)	120						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)	p.G120G(2)		NS(1)|breast(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	21					Vitamin C(DB00126)	CTTAGGTGGGGCACGAGCGTA	0.662																																						ENST00000343546.4																			2	Substitution - coding silent(2)	p.G120G(2)	prostate(2)	NS(1)|breast(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	21						c.(358-360)ggG>ggA		prolyl 4-hydroxylase, transmembrane (endoplasmic reticulum)	Vitamin C(DB00126)						55	39	44					3																	49028271		2203	4300	6503	SO:0001819	synonymous_variant	54681					endoplasmic reticulum membrane|integral to membrane	calcium ion binding|iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr3:49028271G>A		CCDS2781.2, CCDS43089.1	3p21.31	2009-01-14			ENSG00000178467	ENSG00000178467			28858	protein-coding gene	gene with protein product	"Prolyl hydroxlase domain-containing 4", "hypoxia inducible factor prolyl 4 hydroxylase"	614584				12163023, 17726031	Standard	XR_245139		Approved	P4H-TM, PHD4, PH4, HIFPH4, FLJ20262, EGLN4, PH-4	uc003cvh.3	Q9NXG6	OTTHUMG00000074057	ENST00000383729.4:c.360G>A	3.37:g.49028271G>A						P4HTM_ENST00000383729.4_Silent_p.G120G|P4HTM_ENST00000468374.1_3'UTR	p.G120G	NM_177938.2	NP_808807.2	Q9NXG6	P4HTM_HUMAN			2	728	+			120					Q6PAG6|Q8TCJ9|Q8WV55|Q96F22|Q9BW77	Silent	SNP	ENST00000383729.4	37	c.360G>A	CCDS43089.1	.	.	.	.	.	.	.	.	.	.	G	11.01	1.512447	0.27123	.	.	ENSG00000178467	ENST00000444213	.	.	.	4.33	0.998	0.19857	.	.	.	.	.	T	0.41811	0.1175	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.24225	-1.0166	4	.	.	.	-24.3214	1.0209	0.01517	0.2871:0.2856:0.2905:0.1368	.	.	.	.	T	72	.	.	A	+	1	0	P4HTM	49003275	0.903000	0.30736	0.983000	0.44433	0.958000	0.62258	-0.043000	0.12043	0.183000	0.20059	0.462000	0.41574	GCA		0.662	P4HTM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157211.1	NM_177938		3	26	0	0	0	0.004672	0	3	26					A	49028271	G	A	49028271	2	1	163	1	0	0	0	0	0	0	0	1	11360	1190	42	3		3	P4HTM	3	49028271	Silent	SNP	G	TCGA-G9-6362-01A-11D-1786-08		49028271	148994159	11	7830											
GPR128	84873	broad.mit.edu	37	chr3	100373726	100373726	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggttttggtcaatctgtgcaTatcaatgttgattttcaacc	9	17	8	7	0	4	1	3	1	1	0	4	1	4	1	1	2	2	3	1	2	4	6			TCGA-G9-6362-01A-11D-1786-08	TCGA-G9-6362-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a3aeec-d8b4-49fe-bf4a-8727ce1d8c06	365931c6-7328-42e9-919f-3b96847af1cc	g.chr3:100373726T>C	ENST00000273352.3	+	12	1695	c.1427T>C	c.(1426-1428)aTa>aCa	p.I476T	GPR128_ENST00000481506.1_3'UTR|GPR128_ENST00000475887.1_Missense_Mutation_p.I181T	NM_032787.2	NP_116176.2	Q96K78	GP128_HUMAN	G protein-coupled receptor 128	476					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.I476T(1)		NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	56						AATCTGTGCATATCAATGTTG	0.323																																					Pancreas(87;185 1975 7223 18722)	ENST00000273352.3																			1	Substitution - Missense(1)	p.I476T(1)	prostate(1)	NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	56						c.(1426-1428)aTa>aCa		G protein-coupled receptor 128							102	97	98					3																	100373726		2203	4300	6503	SO:0001583	missense	84873				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr3:100373726T>C	AK027360	CCDS2938.1	3q12.3	2014-08-08			ENSG00000144820	ENSG00000144820		"-", "GPCR / Class B : Orphans"	19241	protein-coding gene	gene with protein product		612307					Standard	NM_032787		Approved	FLJ14454	uc003duc.3	Q96K78	OTTHUMG00000159083	ENST00000273352.3:c.1427T>C	3.37:g.100373726T>C	ENSP00000273352:p.Ile476Thr					GPR128_ENST00000481506.1_3'UTR|GPR128_ENST00000475887.1_Missense_Mutation_p.I181T	p.I476T	NM_032787.2	NP_116176.2	Q96K78	GP128_HUMAN			12	1695	+			476					Q14D94|Q86SQ2	Missense_Mutation	SNP	ENST00000273352.3	37	c.1427T>C	CCDS2938.1	.	.	.	.	.	.	.	.	.	.	T	0.013	-1.610012	0.00835	.	.	ENSG00000144820	ENST00000273352;ENST00000475887	T;T	0.42131	0.98;0.98	5.48	-2.52	0.06346	GPCR, family 2-like (1);	1.045180	0.07482	N	0.904019	T	0.25457	0.0619	N	0.16166	0.38	0.09310	N	1	B;B	0.19583	0.037;0.013	B;B	0.21360	0.034;0.008	T	0.26430	-1.0103	10	0.27082	T	0.32	.	11.6476	0.51269	0.0:0.3261:0.0:0.6739	.	181;476	E9PHI0;Q96K78	.;GP128_HUMAN	T	476;181	ENSP00000273352:I476T;ENSP00000419788:I181T	ENSP00000273352:I476T	I	+	2	0	GPR128	101856416	0.000000	0.05858	0.010000	0.14722	0.481000	0.33189	-0.925000	0.03992	-0.623000	0.05618	-0.242000	0.12053	ATA		0.323	GPR128-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353236.1			3	57	0	0	0	0.004672	0	3	57					C	100373726	T	C	100373726	3	2	163	1	0	0	0	0	1	0	0	0	6641	1406	49	4	1473	4	GPR128	3	100373726	Missense_Mutation	SNP	T	TCGA-G9-6362-01A-11D-1786-08	51345455	100373726	97648704	12	7831											
CCDC54	84692	broad.mit.edu	37	chr3	107096617	107096617	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caagatgatgatagttatgaCggaaaaatgaatcttccagt	16	11	9	5	1	1	5	0	4	1	1	2	6	2	6	1	1	0	1	1	1	6	3	rs144553244	byFrequency	TCGA-G9-6362-01A-11D-1786-08	TCGA-G9-6362-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a3aeec-d8b4-49fe-bf4a-8727ce1d8c06	365931c6-7328-42e9-919f-3b96847af1cc	g.chr3:107096617C>T	ENST00000261058.1	+	1	430	c.183C>T	c.(181-183)gaC>gaT	p.D61D		NM_032600.2	NP_115989.1	Q8NEL0	CCD54_HUMAN	coiled-coil domain containing 54	61								p.D61D(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	19						ATAGTTATGACGGAAAAATGA	0.363													C|||	2	0.000399361	0.0015	0	5008	,	,		21297	0		0	False		,,,				2504	0					ENST00000261058.1																			1	Substitution - coding silent(1)	p.D61D(1)	prostate(1)	NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	19						c.(181-183)gaC>gaT		coiled-coil domain containing 54							132	127	129					3																	107096617		2203	4300	6503	SO:0001819	synonymous_variant	84692							g.chr3:107096617C>T	AF367469	CCDS2949.1	3q13.12	2013-10-11			ENSG00000138483	ENSG00000138483			30703	protein-coding gene	gene with protein product	"sperm protein 17"					15257753	Standard	NM_032600		Approved	NYD-SP17, FLJ25362, SP17	uc003dwi.1	Q8NEL0	OTTHUMG00000159169	ENST00000261058.1:c.183C>T	3.37:g.107096617C>T							p.D61D	NM_032600.2	NP_115989.1	Q8NEL0	CCD54_HUMAN			1	430	+			61					Q96A43	Silent	SNP	ENST00000261058.1	37	c.183C>T	CCDS2949.1																																																																																				0.363	CCDC54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353651.1	NM_032600		8	89	0	0	0	0.038147	0	8	89					T	107096617	C	T	107096617	2	4	163	1	0	0	0	0	0	0	0	1	2824	535	19	1		1	CCDC54	3	107096617	Silent	SNP	C	TCGA-G9-6362-01A-11D-1786-08	6722891	107096617	90925813	13	7832											
FAM193A	8603	broad.mit.edu	37	chr4	2648484	2648484	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcagaggtaccagcgttcCgaggaggagctgcgcagagt	9	6	16	10	3	0	2	0	0	0	2	1	5	1	4	2	3	5	5	2	3	1	2	rs562276379	byFrequency	TCGA-G9-6362-01A-11D-1786-08	TCGA-G9-6362-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a3aeec-d8b4-49fe-bf4a-8727ce1d8c06	365931c6-7328-42e9-919f-3b96847af1cc	g.chr4:2648484C>T	ENST00000324666.5	+	5	714	c.363C>T	c.(361-363)tcC>tcT	p.S121S	FAM193A_ENST00000382839.3_Silent_p.S121S|FAM193A_ENST00000502458.1_Silent_p.S121S|FAM193A_ENST00000505311.1_Silent_p.S121S|FAM193A_ENST00000545951.1_Silent_p.S121S	NM_001256666.1	NP_001243595.1	P78312	F193A_HUMAN	family with sequence similarity 193, member A	121								p.S121S(1)		NS(2)|breast(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(12)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	40						ACCAGCGTTCCGAGGAGGAGC	0.597													C|||	2	0.000399361	0.0015	0	5008	,	,		20723	0		0	False		,,,				2504	0					ENST00000324666.5																			1	Substitution - coding silent(1)	p.S121S(1)	prostate(1)	NS(2)|breast(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(12)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	40						c.(361-363)tcC>tcT		family with sequence similarity 193, member A							146	136	139					4																	2648484		2203	4300	6503	SO:0001819	synonymous_variant	8603							g.chr4:2648484C>T	AB000459	CCDS33943.1, CCDS58874.1, CCDS58875.1, CCDS58876.1	4p16.3	2009-09-04	2009-09-04	2009-09-04					16822	protein-coding gene	gene with protein product			"chromosome 4 open reading frame 8"	C4orf8		9734812	Standard	NR_046335		Approved	RES4-22	uc010ick.3	P78312		ENST00000324666.5:c.363C>T	4.37:g.2648484C>T						FAM193A_ENST00000382839.3_Silent_p.S121S|FAM193A_ENST00000545951.1_Silent_p.S121S|FAM193A_ENST00000505311.1_Silent_p.S121S|FAM193A_ENST00000502458.1_Silent_p.S121S	p.S121S	NM_001256666.1	NP_001243595.1	P78312	F193A_HUMAN			5	714	+			121					B7ZM85|B9EGR0|E9PFA1|O43607|P78311|P78313|Q9UEG8	Silent	SNP	ENST00000324666.5	37	c.363C>T	CCDS58875.1																																																																																				0.597	FAM193A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000360903.1	NM_003704		10	142	0	0	0	0.058154	0	10	142					T	2648484	C	T	2648484	2	4	163	1	0	0	0	0	0	0	0	1	5524	639	23	2		2	FAM193A	4	2648484	Silent	SNP	C	TCGA-G9-6362-01A-11D-1786-08		2648484	188505792	14	7833											
SFRP2	6423	broad.mit.edu	37	chr4	154709740	154709740	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgggtggcactgcttcatgAccagcgggatccaagcgccg	7	6	14	14	4	1	1	1	1	0	0	2	2	2	2	4	3	3	2	4	3	1	1			TCGA-G9-6362-01A-11D-1786-08	TCGA-G9-6362-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a3aeec-d8b4-49fe-bf4a-8727ce1d8c06	365931c6-7328-42e9-919f-3b96847af1cc	g.chr4:154709740A>G	ENST00000274063.4	-	1	532	c.248T>C	c.(247-249)gTc>gCc	p.V83A		NM_003013.2	NP_003004.1	Q96HF1	SFRP2_HUMAN	secreted frizzled-related protein 2	83	FZ. {ECO:0000255|PROSITE- ProRule:PRU00090}.				bone morphogenesis (GO:0060349)|brain development (GO:0007420)|cardiac left ventricle morphogenesis (GO:0003214)|cell-cell signaling (GO:0007267)|cellular response to extracellular stimulus (GO:0031668)|cellular response to X-ray (GO:0071481)|chondrocyte development (GO:0002063)|collagen fibril organization (GO:0030199)|convergent extension involved in axis elongation (GO:0060028)|digestive tract morphogenesis (GO:0048546)|embryonic digit morphogenesis (GO:0042733)|gonad development (GO:0008406)|hematopoietic stem cell proliferation (GO:0071425)|male gonad development (GO:0008584)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cardiac muscle cell apoptotic process (GO:0010667)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of dermatome development (GO:0061185)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of gene expression (GO:0010629)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902230)|negative regulation of JUN kinase activity (GO:0043508)|negative regulation of mesodermal cell fate specification (GO:0042662)|negative regulation of peptidyl-tyrosine phosphorylation (GO:0050732)|negative regulation of planar cell polarity pathway involved in axis elongation (GO:2000041)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of Wnt signaling pathway (GO:0030178)|neural tube closure (GO:0001843)|outflow tract morphogenesis (GO:0003151)|patterning of blood vessels (GO:0001569)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of angiogenesis (GO:0045766)|positive regulation of apoptotic process (GO:0043065)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cell growth (GO:0030307)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-anal tail morphogenesis (GO:0036342)|regulation of stem cell division (GO:2000035)|response to drug (GO:0042493)|response to nutrient (GO:0007584)|sclerotome development (GO:0061056)|vasculature development (GO:0001944)|Wnt signaling pathway involved in somitogenesis (GO:0090244)	cytoplasm (GO:0005737)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	endopeptidase activator activity (GO:0061133)|fibronectin binding (GO:0001968)|integrin binding (GO:0005178)|metalloenzyme activator activity (GO:0010577)|PDZ domain binding (GO:0030165)|receptor agonist activity (GO:0048018)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)	p.V83A(2)		breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(1)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	16	all_hematologic(180;0.093)	Renal(120;0.117)				CTGCTTCATGACCAGCGGGAT	0.627																																						ENST00000274063.4																			2	Substitution - Missense(2)	p.V83A(2)	prostate(2)	breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(1)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	16						c.(247-249)gTc>gCc		secreted frizzled-related protein 2							98	109	106					4																	154709740		2203	4300	6503	SO:0001583	missense	6423				brain development|cardiac left ventricle morphogenesis|cell-cell signaling|dermatome development|hemopoietic stem cell proliferation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell growth|negative regulation of cell migration|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of transcription, DNA-dependent|outflow tract morphogenesis|patterning of blood vessels|positive regulation of angiogenesis|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell adhesion mediated by integrin|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of fat cell differentiation|positive regulation of peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter|regulation of stem cell division|sclerotome development	cytoplasm|extracellular matrix|extracellular space|plasma membrane	fibronectin binding|integrin binding|PDZ domain binding|receptor agonist activity|Wnt receptor activity|Wnt-protein binding	g.chr4:154709740A>G	AF017986	CCDS34082.1	4q31.3	2008-08-29			ENSG00000145423	ENSG00000145423		"Secreted frizzled-related proteins"	10777	protein-coding gene	gene with protein product		604157				9391078	Standard	NM_003013		Approved	SARP1, SDF-5, FRP-2	uc003inv.1	Q96HF1	OTTHUMG00000161559	ENST00000274063.4:c.248T>C	4.37:g.154709740A>G	ENSP00000274063:p.Val83Ala						p.V83A	NM_003013.2	NP_003004.1	Q96HF1	SFRP2_HUMAN			1	532	-	all_hematologic(180;0.093)	Renal(120;0.117)	83			FZ.		B3KQR2|O14778|Q9HAP5	Missense_Mutation	SNP	ENST00000274063.4	37	c.248T>C	CCDS34082.1	.	.	.	.	.	.	.	.	.	.	A	23.3	4.405560	0.83230	.	.	ENSG00000145423	ENST00000274063	T	0.56444	0.46	4.77	3.53	0.40419	Frizzled domain (5);	0.111099	0.64402	D	0.000010	T	0.51398	0.1672	L	0.48986	1.54	0.58432	D	0.999998	B	0.33379	0.41	B	0.41135	0.348	T	0.51505	-0.8697	10	0.56958	D	0.05	.	10.6521	0.45655	0.8561:0.0:0.0:0.1439	.	83	Q96HF1	SFRP2_HUMAN	A	83	ENSP00000274063:V83A	ENSP00000274063:V83A	V	-	2	0	SFRP2	154929190	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.177000	0.94849	0.715000	0.32103	0.533000	0.62120	GTC		0.627	SFRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365296.1			20	127	0	0	0	0.062417	0	20	127					G	154709740	A	G	154709740	3	3	163	1	0	0	0	0	1	0	0	0	14162	275	10	4	651	4	SFRP2	4	154709740	Missense_Mutation	SNP	A	TCGA-G9-6362-01A-11D-1786-08	152061256	154709740	36444536	15	7834											
ZNF622	90441	broad.mit.edu	37	chr5	16465318	16465318	+	Nonsense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cacgacattcctggcctcctTtgcaggcgctgggggcgcct	4	9	13	15	3	0	0	0	0	0	0	2	1	2	0	4	4	1	2	4	4	0	2			TCGA-G9-6362-01A-11D-1786-08	TCGA-G9-6362-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a3aeec-d8b4-49fe-bf4a-8727ce1d8c06	365931c6-7328-42e9-919f-3b96847af1cc	g.chr5:16465318T>A	ENST00000308683.2	-	1	583	c.457A>T	c.(457-459)Aag>Tag	p.K153*		NM_033414.2	NP_219482.1	Q969S3	ZN622_HUMAN	zinc finger protein 622	153					intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|positive regulation of apoptotic process (GO:0043065)|positive regulation of JNK cascade (GO:0046330)|positive regulation of kinase activity (GO:0033674)|positive regulation of MAPK cascade (GO:0043410)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.K153*(1)		endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|urinary_tract(1)	25						CTGGCCTCCTTTGCAGGCGCT	0.642																																						ENST00000308683.2																			1	Substitution - Nonsense(1)	p.K153*(1)	prostate(1)	endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|urinary_tract(1)	25						c.(457-459)Aag>Tag		zinc finger protein 622							75	78	77					5																	16465318		2203	4300	6503	SO:0001587	stop_gained	90441					cytoplasm|nucleus	nucleic acid binding|zinc ion binding	g.chr5:16465318T>A	AY046059	CCDS3886.1	5p15.1	2012-10-05			ENSG00000173545	ENSG00000173545			30958	protein-coding gene	gene with protein product		608694				11802789, 12645566	Standard	NM_033414		Approved	MGC2485, MGC17552, ZPR9	uc003jfq.3	Q969S3	OTTHUMG00000090567	ENST00000308683.2:c.457A>T	5.37:g.16465318T>A	ENSP00000310042:p.Lys153*						p.K153*	NM_033414.2	NP_219482.1	Q969S3	ZN622_HUMAN			1	583	-			153						Nonsense_Mutation	SNP	ENST00000308683.2	37	c.457A>T	CCDS3886.1	.	.	.	.	.	.	.	.	.	.	T	23.5	4.419634	0.83559	.	.	ENSG00000173545	ENST00000308683	.	.	.	4.27	-1.05	0.10036	.	1.882610	0.01917	N	0.040271	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-6.882	6.1335	0.20219	0.0:0.3026:0.2333:0.4641	.	.	.	.	X	153	.	ENSP00000310042:K153X	K	-	1	0	ZNF622	16518318	0.000000	0.05858	0.000000	0.03702	0.017000	0.09413	-0.165000	0.09968	-0.520000	0.06435	-1.105000	0.02106	AAG		0.642	ZNF622-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207105.1	NM_033414		13	113	0	0	0	0.024245	0	13	113					A	16465318	T	A	16465318	4	1	163	1	0	0	0	0	0	1	0	0	18043	1850	64	5	1000	5	ZNF622	5	16465318	Nonsense_Mutation	SNP	T	TCGA-G9-6362-01A-11D-1786-08		16465318	164449942	16	7835											
PRDM9	56979	broad.mit.edu	37	chr5	23526359	23526359	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagaaccaaagccagagatcCatccatgtccctcatgctgt	12	8	7	14	0	1	2	1	0	0	2	4	3	4	2	5	0	3	1	5	0	2	0			TCGA-G9-6362-01A-11D-1786-08	TCGA-G9-6362-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a3aeec-d8b4-49fe-bf4a-8727ce1d8c06	365931c6-7328-42e9-919f-3b96847af1cc	g.chr5:23526359C>T	ENST00000296682.3	+	11	1344	c.1162C>T	c.(1162-1164)Cat>Tat	p.H388Y		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	388					meiotic gene conversion (GO:0006311)|positive regulation of meiosis I (GO:0060903)|positive regulation of reciprocal meiotic recombination (GO:0010845)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)	histone methyltransferase activity (H3-K4 specific) (GO:0042800)|metal ion binding (GO:0046872)|recombination hotspot binding (GO:0010844)|sequence-specific DNA binding (GO:0043565)	p.H388Y(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						GCCAGAGATCCATCCATGTCC	0.438										HNSCC(3;0.000094)																												ENST00000296682.3																			1	Substitution - Missense(1)	p.H388Y(1)	prostate(1)	NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						c.(1162-1164)Cat>Tat		PR domain containing 9							108	104	105					5																	23526359		2203	4300	6503	SO:0001583	missense	56979				meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding	g.chr5:23526359C>T	AF275816	CCDS43307.1	5p14.2	2014-06-03			ENSG00000164256	ENSG00000164256		"-", "Zinc fingers, C2H2-type"	13994	protein-coding gene	gene with protein product	"PR-domain containing protein 9"	609760	"minisatellite binding protein 3, 115kDa", "minisatellite binding protein 3 (115kD)"	MSBP3		10668202, 2062643, 24634223	Standard	NM_020227		Approved	PFM6, ZNF899	uc003jgo.3	Q9NQV7	OTTHUMG00000161918	ENST00000296682.3:c.1162C>T	5.37:g.23526359C>T	ENSP00000296682:p.His388Tyr	HNSCC(3;0.000094)					p.H388Y	NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN			11	1344	+			388					B4DX22|Q27Q50	Missense_Mutation	SNP	ENST00000296682.3	37	c.1162C>T	CCDS43307.1	.	.	.	.	.	.	.	.	.	.	C	2.262	-0.369111	0.05069	.	.	ENSG00000164256	ENST00000296682;ENST00000253473	T	0.08458	3.09	3.52	1.57	0.23409	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);	0.436094	0.16961	N	0.192495	T	0.02119	0.0066	N	0.01751	-0.74	0.22354	N	0.999173	B	0.12013	0.005	B	0.06405	0.002	T	0.45396	-0.9264	10	0.02654	T	1	-7.3769	4.2661	0.10764	0.2259:0.6419:0.0:0.1322	.	388	Q9NQV7	PRDM9_HUMAN	Y	388;182	ENSP00000296682:H388Y	ENSP00000253473:H182Y	H	+	1	0	PRDM9	23562116	0.017000	0.18338	0.416000	0.26546	0.167000	0.22549	-0.028000	0.12350	0.199000	0.20427	0.400000	0.26472	CAT		0.438	PRDM9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366375.1	NM_020227		53	92	0	0	0	0.048971	0	53	92					T	23526359	C	T	23526359	3	4	163	1	0	0	0	0	1	0	0	0	12463	594	21	3	1200	3	PRDM9	5	23526359	Missense_Mutation	SNP	C	TCGA-G9-6362-01A-11D-1786-08	7061041	23526359	157388901	17	7836											
NIPBL	25836	broad.mit.edu	37	chr5	37038824	37038824	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aatgactatgcaaccataccTtaccactaaatgtagtgtaa	16	11	5	9	0	0	1	0	1	0	0	0	1	0	1	3	0	4	3	3	0	9	6			TCGA-G9-6362-01A-11D-1786-08	TCGA-G9-6362-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a3aeec-d8b4-49fe-bf4a-8727ce1d8c06	365931c6-7328-42e9-919f-3b96847af1cc	g.chr5:37038824T>A	ENST00000282516.8	+	34	6591	c.6092T>A	c.(6091-6093)cTt>cAt	p.L2031H	NIPBL_ENST00000448238.2_Missense_Mutation_p.L2031H	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	2031					brain development (GO:0007420)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to X-ray (GO:0071481)|cognition (GO:0050890)|developmental growth (GO:0048589)|ear morphogenesis (GO:0042471)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic forelimb morphogenesis (GO:0035115)|embryonic viscerocranium morphogenesis (GO:0048703)|external genitalia morphogenesis (GO:0035261)|eye morphogenesis (GO:0048592)|face morphogenesis (GO:0060325)|fat cell differentiation (GO:0045444)|forelimb morphogenesis (GO:0035136)|gall bladder development (GO:0061010)|heart morphogenesis (GO:0003007)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|metanephros development (GO:0001656)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid cohesion (GO:0007064)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract morphogenesis (GO:0003151)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of ossification (GO:0045778)|regulation of developmental growth (GO:0048638)|regulation of embryonic development (GO:0045995)|regulation of hair cycle (GO:0042634)|sensory perception of sound (GO:0007605)|stem cell maintenance (GO:0019827)|uterus morphogenesis (GO:0061038)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMC loading complex (GO:0032116)	chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|histone deacetylase binding (GO:0042826)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)	p.L2031H(2)		autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			CAACCATACCTTACCACTAAA	0.348																																						ENST00000282516.8																			2	Substitution - Missense(2)	p.L2031H(2)	prostate(2)	autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128						c.(6091-6093)cTt>cAt		Nipped-B homolog (Drosophila)							89	81	84					5																	37038824		2203	4300	6503	SO:0001583	missense	25836				brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding	g.chr5:37038824T>A	AB019494	CCDS3920.1, CCDS47198.1	5p13.2	2009-08-28			ENSG00000164190	ENSG00000164190			28862	protein-coding gene	gene with protein product	"sister chromatid cohesion 2 homolog (yeast)"	608667				15146186, 15146185	Standard	NM_133433		Approved	IDN3, DKFZp434L1319, FLJ11203, FLJ12597, FLJ13354, FLJ13648, Scc2	uc003jkl.4	Q6KC79	OTTHUMG00000090795	ENST00000282516.8:c.6092T>A	5.37:g.37038824T>A	ENSP00000282516:p.Leu2031His					NIPBL_ENST00000448238.2_Missense_Mutation_p.L2031H	p.L2031H	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)		34	6591	+	all_lung(31;0.000447)|Hepatocellular(1;0.108)		2031					Q6KCD6|Q6N080|Q6ZT92|Q7Z2E6|Q8N4M5|Q9Y6Y3|Q9Y6Y4	Missense_Mutation	SNP	ENST00000282516.8	37	c.6092T>A	CCDS3920.1	.	.	.	.	.	.	.	.	.	.	T	22.0	4.234359	0.79800	.	.	ENSG00000164190	ENST00000282516;ENST00000448238	T;T	0.75367	-0.93;-0.93	4.95	4.95	0.65309	Armadillo-like helical (1);Armadillo-type fold (1);	0.146527	0.47093	D	0.000258	D	0.87884	0.6290	M	0.89414	3.03	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.90050	0.4148	10	0.62326	D	0.03	-1.4723	14.9013	0.70681	0.0:0.0:0.0:1.0	.	2031;2031	Q6KC79;Q6KC79-2	NIPBL_HUMAN;.	H	2031	ENSP00000282516:L2031H;ENSP00000406266:L2031H	ENSP00000282516:L2031H	L	+	2	0	NIPBL	37074581	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.648000	0.83479	1.970000	0.57323	0.528000	0.53228	CTT		0.348	NIPBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207582.1	NM_015384		5	51	0	0	0	0.014758	0	5	51					A	37038824	T	A	37038824	3	1	163	1	0	0	0	0	1	0	0	0	10428	1609	56	5	6222	5	NIPBL	5	37038824	Missense_Mutation	SNP	T	TCGA-G9-6362-01A-11D-1786-08	13512465	37038824	143876436	18	7837											
HTR1A	3350	broad.mit.edu	37	chr5	63256567	63256567	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgcgcttcgcctcggcgttgCgctcatttttcctctcgaaa	4	14	9	14	6	2	0	1	0	1	0	6	1	3	0	2	1	2	3	2	1	1	4			TCGA-G9-6362-01A-11D-1786-08	TCGA-G9-6362-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a3aeec-d8b4-49fe-bf4a-8727ce1d8c06	365931c6-7328-42e9-919f-3b96847af1cc	g.chr5:63256567C>T	ENST00000323865.3	-	1	1213	c.980G>A	c.(979-981)cGc>cAc	p.R327H	RP11-158J3.2_ENST00000502882.1_RNA	NM_000524.3	NP_000515.2	P08908	5HT1A_HUMAN	5-hydroxytryptamine (serotonin) receptor 1A, G protein-coupled	327					adenylate cyclase-inhibiting serotonin receptor signaling pathway (GO:0007198)|behavioral fear response (GO:0001662)|cell proliferation (GO:0008283)|exploration behavior (GO:0035640)|G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cell proliferation (GO:0008284)|regulation of behavior (GO:0050795)|regulation of dopamine metabolic process (GO:0042053)|regulation of hormone secretion (GO:0046883)|regulation of serotonin secretion (GO:0014062)|serotonin metabolic process (GO:0042428)|serotonin receptor signaling pathway (GO:0007210)|vasoconstriction (GO:0042310)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	serotonin receptor activity (GO:0004993)	p.R327H(1)		cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(29)|ovary(2)|pancreas(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	56		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234)		Lung(70;0.105)	Acepromazine(DB01614)|Alprenolol(DB00866)|Alverine(DB01616)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bopindolol(DB08807)|Bromocriptine(DB01200)|Buspirone(DB00490)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Cinitapride(DB08810)|Clozapine(DB00363)|Desipramine(DB01151)|Dopamine(DB00988)|Doxepin(DB01142)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Iloperidone(DB04946)|Imipramine(DB00458)|Ketamine(DB01221)|Lisuride(DB00589)|Loxapine(DB00408)|Lurasidone(DB08815)|Methysergide(DB00247)|Mianserin(DB06148)|Molindone(DB01618)|Naratriptan(DB00952)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Ondansetron(DB00904)|Paliperidone(DB01267)|Penbutolol(DB01359)|Pergolide(DB01186)|Pindolol(DB00960)|Pipotiazine(DB01621)|Pramipexole(DB00413)|Propranolol(DB00571)|Quetiapine(DB01224)|Risperidone(DB00734)|Ropinirole(DB00268)|Rotigotine(DB05271)|Sumatriptan(DB00669)|Thioproperazine(DB01622)|Trazodone(DB00656)|Trimipramine(DB00726)|Vilazodone(DB06684)|Yohimbine(DB01392)|Ziprasidone(DB00246)|Zolmitriptan(DB00315)	CTCGGCGTTGCGCTCATTTTT	0.622																																						ENST00000323865.3																			1	Substitution - Missense(1)	p.R327H(1)	prostate(1)	cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(29)|ovary(2)|pancreas(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	56						c.(979-981)cGc>cAc		5-hydroxytryptamine (serotonin) receptor 1A, G protein-coupled	Alprenolol(DB00866)|Aripiprazole(DB01238)|Buspirone(DB00490)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Fluvoxamine(DB00176)|Lisuride(DB00589)|Methysergide(DB00247)|Mirtazapine(DB00370)|Pindolol(DB00960)|Propranolol(DB00571)|Quetiapine(DB01224)|Sertraline(DB01104)|Tegaserod(DB01079)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246)						68	71	70					5																	63256567		2203	4300	6503	SO:0001583	missense	3350				behavior|positive regulation of cell proliferation	integral to plasma membrane	serotonin receptor activity	g.chr5:63256567C>T	AF498978	CCDS34168.1	5q11.2-q13	2012-08-08	2012-02-03			ENSG00000178394		"5-HT (serotonin) receptors", "GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"	5286	protein-coding gene	gene with protein product		109760	"5-hydroxytryptamine (serotonin) receptor 1A"	ADRB2RL1, ADRBRL1		2591972, 12969265	Standard	NM_000524		Approved	5-HT1A	uc011cqt.3	P08908		ENST00000323865.3:c.980G>A	5.37:g.63256567C>T	ENSP00000316244:p.Arg327His					RP11-158J3.2_ENST00000502882.1_RNA	p.R327H	NM_000524.3	NP_000515.2	P08908	5HT1A_HUMAN		Lung(70;0.105)	1	1213	-		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234)	327					Q6LAE7	Missense_Mutation	SNP	ENST00000323865.3	37	c.980G>A	CCDS34168.1	.	.	.	.	.	.	.	.	.	.	C	20.1	3.940610	0.73557	.	.	ENSG00000178394	ENST00000323865	T	0.39229	1.09	5.7	5.7	0.88788	GPCR, rhodopsin-like superfamily (1);	0.215793	0.40144	N	0.001172	T	0.50837	0.1639	L	0.49640	1.575	0.47065	D	0.999304	D	0.65815	0.995	P	0.55923	0.787	T	0.48703	-0.9012	10	0.52906	T	0.07	.	12.1079	0.53823	0.0:0.9137:0.0:0.0863	.	327	P08908	5HT1A_HUMAN	H	327	ENSP00000316244:R327H	ENSP00000316244:R327H	R	-	2	0	HTR1A	63292323	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	4.012000	0.57131	2.692000	0.91855	0.655000	0.94253	CGC		0.622	HTR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368397.1	NM_000524		9	82	0	0	0	0.047766	0	9	82					T	63256567	C	T	63256567	3	4	163	1	0	0	0	0	1	0	0	0	7436	768	27	1	291	1	HTR1A	5	63256567	Missense_Mutation	SNP	C	TCGA-G9-6362-01A-11D-1786-08	26217743	63256567	117658693	19	7838											
BHMT	635	broad.mit.edu	37	chr5	78415119	78415119	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagttcctcagagctggctcAaacgtcatgcagaccttcac	10	9	9	13	1	4	2	4	0	0	2	5	3	5	2	2	1	3	4	2	1	1	2			TCGA-G9-6362-01A-11D-1786-08	TCGA-G9-6362-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a3aeec-d8b4-49fe-bf4a-8727ce1d8c06	365931c6-7328-42e9-919f-3b96847af1cc	g.chr5:78415119A>T	ENST00000274353.5	+	3	311	c.204A>T	c.(202-204)tcA>tcT	p.S68S	DMGDH_ENST00000520388.1_Intron|BHMT_ENST00000524080.1_Intron	NM_001713.2	NP_001704.2	Q93088	BHMT1_HUMAN	betaine--homocysteine S-methyltransferase	68	Hcy-binding. {ECO:0000255|PROSITE- ProRule:PRU00333}.				amino-acid betaine catabolic process (GO:0006579)|amino-acid betaine metabolic process (GO:0006577)|cellular nitrogen compound metabolic process (GO:0034641)|L-methionine salvage (GO:0071267)|protein methylation (GO:0006479)|regulation of homocysteine metabolic process (GO:0050666)|response to organonitrogen compound (GO:0010243)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)	betaine-homocysteine S-methyltransferase activity (GO:0047150)|S-adenosylmethionine-homocysteine S-methyltransferase activity (GO:0008898)|zinc ion binding (GO:0008270)	p.S68S(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)	29		all_lung(232;0.00051)|Lung NSC(167;0.00131)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;1.88e-45)|Epithelial(54;8.07e-41)|all cancers(79;3.51e-36)	L-Methionine(DB00134)	GAGCTGGCTCAAACGTCATGC	0.448																																						ENST00000274353.5																			1	Substitution - coding silent(1)	p.S68S(1)	prostate(1)	breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)	29						c.(202-204)tcA>tcT		betaine--homocysteine S-methyltransferase	L-Methionine(DB00134)						110	103	105					5																	78415119		2203	4300	6503	SO:0001819	synonymous_variant	635				protein methylation|regulation of homocysteine metabolic process	cytoplasm	betaine-homocysteine S-methyltransferase activity|homocysteine S-methyltransferase activity|zinc ion binding	g.chr5:78415119A>T	BC012616	CCDS4046.1	5q14.1	2012-09-20	2010-04-28		ENSG00000145692	ENSG00000145692	2.1.1.5		1047	protein-coding gene	gene with protein product	"betaine homocysteine methyltransferase"	602888				8798461, 9281325	Standard	NM_001713		Approved	BHMT1	uc003kfu.4	Q93088	OTTHUMG00000108157	ENST00000274353.5:c.204A>T	5.37:g.78415119A>T						DMGDH_ENST00000520388.1_Intron|BHMT_ENST00000524080.1_Intron	p.S68S	NM_001713.2	NP_001704.2	Q93088	BHMT1_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;1.88e-45)|Epithelial(54;8.07e-41)|all cancers(79;3.51e-36)	3	311	+		all_lung(232;0.00051)|Lung NSC(167;0.00131)|Ovarian(174;0.0261)|Prostate(461;0.191)	68			Hcy-binding.		Q9UNI9	Silent	SNP	ENST00000274353.5	37	c.204A>T	CCDS4046.1																																																																																				0.448	BHMT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226961.1	NM_001713		33	41	0	0	0	0.069456	0	33	41					T	78415119	A	T	78415119	2	4	163	1	0	0	0	0	0	0	0	1	1425	117	5	5		5	BHMT	5	78415119	Silent	SNP	A	TCGA-G9-6362-01A-11D-1786-08	15158552	78415119	102500141	20	7839											
ATG10	83734	broad.mit.edu	37	chr5	81354375	81354375	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	taagaatgggtctgtgatgtCacatctaggagcatctaccc	11	11	10	9	0	4	2	1	1	3	1	4	3	4	3	1	2	2	1	1	2	4	3			TCGA-G9-6362-01A-11D-1786-08	TCGA-G9-6362-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a3aeec-d8b4-49fe-bf4a-8727ce1d8c06	365931c6-7328-42e9-919f-3b96847af1cc	g.chr5:81354375C>G	ENST00000282185.3	+	3	464	c.170C>G	c.(169-171)tCa>tGa	p.S57*	ATG10_ENST00000513443.1_Nonsense_Mutation_p.S57*|ATG10_ENST00000458350.3_Nonsense_Mutation_p.S57*|ATG10_ENST00000355178.4_Nonsense_Mutation_p.S57*|ATG10_ENST00000513634.1_Nonsense_Mutation_p.S57*	NM_031482.4	NP_113670.1	Q9H0Y0	ATG10_HUMAN	autophagy related 10	57					autophagy (GO:0006914)|autophagy in response to ER overload (GO:0034263)|positive regulation of protein modification process (GO:0031401)|protein lipidation (GO:0006497)|protein modification by small protein conjugation (GO:0032446)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|intracellular (GO:0005622)	Atg12 ligase activity (GO:0019777)	p.S57*(1)		central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(4)|prostate(2)	9		Lung NSC(167;0.0258)|all_lung(232;0.0294)|Ovarian(174;0.135)		OV - Ovarian serous cystadenocarcinoma(54;9.94e-41)|Epithelial(54;6.3e-36)|all cancers(79;2.31e-30)		TCTGTGATGTCACATCTAGGA	0.373																																						ENST00000282185.3																			1	Substitution - Nonsense(1)	p.S57*(1)	prostate(1)	central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(4)|prostate(2)	9						c.(169-171)tCa>tGa		autophagy related 10							183	183	183					5																	81354375		2203	4300	6503	SO:0001587	stop_gained	83734				autophagy in response to ER overload|positive regulation of protein modification process|protein lipidation|protein modification by small protein conjugation|protein transport	cytoplasm	Atg12 ligase activity|protein binding	g.chr5:81354375C>G	AK024016	CCDS4057.1	5q14.1	2014-02-12	2012-06-06	2005-09-11	ENSG00000152348	ENSG00000152348			20315	protein-coding gene	gene with protein product		610800	"APG10 autophagy 10-like (S. cerevisiae)", "ATG10 autophagy related 10 homolog (S. cerevisiae)"	APG10L			Standard	NM_031482		Approved	DKFZP586I0418, FLJ13954	uc003khr.3	Q9H0Y0	OTTHUMG00000119041	ENST00000282185.3:c.170C>G	5.37:g.81354375C>G	ENSP00000282185:p.Ser57*					ATG10_ENST00000513443.1_Nonsense_Mutation_p.S57*|ATG10_ENST00000513634.1_Nonsense_Mutation_p.S57*|ATG10_ENST00000458350.3_Nonsense_Mutation_p.S57*|ATG10_ENST00000355178.4_Nonsense_Mutation_p.S57*	p.S57*	NM_031482.4	NP_113670.1	Q9H0Y0	ATG10_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;9.94e-41)|Epithelial(54;6.3e-36)|all cancers(79;2.31e-30)	3	464	+		Lung NSC(167;0.0258)|all_lung(232;0.0294)|Ovarian(174;0.135)	57					B2RE09|Q6PIX1|Q9H842	Nonsense_Mutation	SNP	ENST00000282185.3	37	c.170C>G	CCDS4057.1	.	.	.	.	.	.	.	.	.	.	C	33	5.263119	0.95399	.	.	ENSG00000152348	ENST00000355178;ENST00000282185;ENST00000458350;ENST00000513443;ENST00000513634	.	.	.	5.47	5.47	0.80525	.	1.156020	0.06239	N	0.690087	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.28530	T	0.3	.	15.1879	0.73020	0.0:1.0:0.0:0.0	.	.	.	.	X	57	.	ENSP00000282185:S57X	S	+	2	0	ATG10	81390131	0.015000	0.18098	0.012000	0.15200	0.010000	0.07245	3.290000	0.51755	2.729000	0.93468	0.557000	0.71058	TCA		0.373	ATG10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239252.2	NM_001131028		28	227	0	0	0	0.037714	0	28	227					G	81354375	C	G	81354375	4	3	163	1	0	0	0	0	0	1	0	0	1089	838	29	5	176	5	ATG10	5	81354375	Nonsense_Mutation	SNP	C	TCGA-G9-6362-01A-11D-1786-08	2939256	81354375	99560885	21	7840											
PCDHGA1	56114	broad.mit.edu	37	chr5	140711178	140711178	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aataaagaaccactagatttCgaagaatacaaaatgtattc	20	10	5	6	1	0	3	0	0	0	3	2	4	0	3	1	0	2	1	1	0	11	6	rs148638556		TCGA-G9-6362-01A-11D-1786-08	TCGA-G9-6362-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a3aeec-d8b4-49fe-bf4a-8727ce1d8c06	365931c6-7328-42e9-919f-3b96847af1cc	g.chr5:140711178C>T	ENST00000517417.1	+	1	927	c.927C>T	c.(925-927)ttC>ttT	p.F309F	PCDHGA1_ENST00000378105.3_Silent_p.F309F|AC005618.6_ENST00000606901.1_lincRNA	NM_018912.2	NP_061735.1	Q9Y5H4	PCDG1_HUMAN	protocadherin gamma subfamily A, 1	309	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.F309F(3)		breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|lung(32)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CACTAGATTTCGAAGAATACA	0.373																																						ENST00000517417.1																			3	Substitution - coding silent(3)	p.F309F(3)	prostate(2)|large_intestine(1)	breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|lung(32)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	78						c.(925-927)ttC>ttT				C	,	2,4404	4.2+/-10.8	0,2,2201	56	57	57		927,927	-5.8	0.9	5	dbSNP_134	57	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	PCDHGA1	NM_018912.2,NM_031993.1	,	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	,	309/932,309/824	140711178	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	0							g.chr5:140711178C>T	AF152318	CCDS54922.1	5q31	2010-01-26				ENSG00000204956		"Cadherins / Protocadherins : Clustered"	8696	other	protocadherin		606288				10380929	Standard	NM_018912		Approved	PCDH-GAMMA-A1		Q9Y5H4		ENST00000517417.1:c.927C>T	5.37:g.140711178C>T						PCDHGA1_ENST00000378105.3_Silent_p.F309F	p.F309F	NM_018912.2	NP_061735.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	927	+								Q2M273|Q9Y5D6	Silent	SNP	ENST00000517417.1	37	c.927C>T	CCDS54922.1																																																																																				0.373	PCDHGA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000374737.1	NM_018912		6	44	0	0	0	0.021553	0	6	44					T	140711178	C	T	140711178	2	4	163	1	0	0	0	0	0	0	0	1	11550	883	31	2		2	PCDHGA1	5	140711178	Silent	SNP	C	TCGA-G9-6362-01A-11D-1786-08	59356803	140711178	40204082	22	7841											
HIST1H2AB	8335	broad.mit.edu	37	chr6	26033605	26033605	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gccgcattgcccgccagctcCaggatctcggcggtcaggta	6	7	13	15	4	2	0	1	0	1	0	4	1	3	1	4	4	2	3	4	4	1	2			TCGA-G9-6362-01A-11D-1786-08	TCGA-G9-6362-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a3aeec-d8b4-49fe-bf4a-8727ce1d8c06	365931c6-7328-42e9-919f-3b96847af1cc	g.chr6:26033605C>T	ENST00000259791.2	-	1	191	c.192G>A	c.(190-192)ctG>ctA	p.L64L	HIST1H3B_ENST00000244661.2_5'Flank	NM_003513.2	NP_003504.2	P04908	H2A1B_HUMAN	histone cluster 1, H2ab	64						extracellular vesicular exosome (GO:0070062)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.L64L(1)		breast(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	8						CCGCCAGCTCCAGGATCTCGG	0.637																																						ENST00000259791.2																			1	Substitution - coding silent(1)	p.L64L(1)	prostate(1)	breast(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	8						c.(190-192)ctG>ctA		histone cluster 1, H2ab							45	48	47					6																	26033605		2203	4300	6503	SO:0001819	synonymous_variant	8335				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr6:26033605C>T	X00089	CCDS4574.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000137259	ENSG00000278463		"Histones / Replication-dependent"	4734	protein-coding gene	gene with protein product		602795	"H2A histone family, member M", "histone 1, H2ab"	H2AFM		9439656, 9119399, 12408966	Standard	NM_003513		Approved	H2A/m	uc003nft.1	P04908	OTTHUMG00000014420	ENST00000259791.2:c.192G>A	6.37:g.26033605C>T							p.L64L	NM_003513.2	NP_003504.2	P04908	H2A1B_HUMAN			1	191	-			64					P28001|Q76P63	Silent	SNP	ENST00000259791.2	37	c.192G>A	CCDS4574.1																																																																																				0.637	HIST1H2AB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040082.1	NM_003513		11	56	0	0	0	0.080935	0	11	56					T	26033605	C	T	26033605	2	4	163	1	0	0	0	0	0	0	0	1	7129	581	21	3		3	HIST1H2AB	6	26033605	Silent	SNP	C	TCGA-G9-6362-01A-11D-1786-08		26033605	145081462	23	7842											
UHRF1BP1	54887	broad.mit.edu	37	chr6	34804091	34804091	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctcatctcccgcctggacctGcacatttgtgatgatagcca	8	11	8	14	1	2	2	1	2	1	0	3	3	2	3	4	1	2	1	4	1	1	2	rs190081988		TCGA-G9-6362-01A-11D-1786-08	TCGA-G9-6362-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a3aeec-d8b4-49fe-bf4a-8727ce1d8c06	365931c6-7328-42e9-919f-3b96847af1cc	g.chr6:34804091G>T	ENST00000192788.5	+	8	1170	c.999G>T	c.(997-999)ctG>ctT	p.L333L	UHRF1BP1_ENST00000452449.2_Silent_p.L333L	NM_017754.3	NP_060224.3	Q6BDS2	URFB1_HUMAN	UHRF1 binding protein 1	333							histone deacetylase binding (GO:0042826)|identical protein binding (GO:0042802)	p.L333L(1)		breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(24)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	54						GCCTGGACCTGCACATTTGTG	0.577																																						ENST00000192788.5																			1	Substitution - coding silent(1)	p.L333L(1)	prostate(1)	breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(24)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	54						c.(997-999)ctG>ctT		UHRF1 binding protein 1							83	91	88					6																	34804091		2054	4211	6265	SO:0001819	synonymous_variant	54887							g.chr6:34804091G>T	AB126777	CCDS43455.1	6p21.31	2008-10-28	2008-08-15	2007-11-27	ENSG00000065060	ENSG00000065060			21216	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 107"	C6orf107			Standard	NM_017754		Approved	FLJ20302, dJ349A12.1, ICBP90	uc003oju.4	Q6BDS2	OTTHUMG00000014557	ENST00000192788.5:c.999G>T	6.37:g.34804091G>T						UHRF1BP1_ENST00000452449.2_Silent_p.L333L	p.L333L	NM_017754.3	NP_060224.3	Q6BDS2	URFB1_HUMAN			8	1170	+			333					Q9NXE0	Silent	SNP	ENST00000192788.5	37	c.999G>T	CCDS43455.1																																																																																				0.577	UHRF1BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040260.1	NM_017754		31	75	1	0	2.81731e-10	0.045705	3.16948e-10	31	75					T	34804091	G	T	34804091	2	4	163	1	0	0	0	0	0	0	0	1	16965	1306	46	5		5	UHRF1BP1	6	34804091	Silent	SNP	G	TCGA-G9-6362-01A-11D-1786-08	8770486	34804091	136310976	24	7843											
PKHD1	5314	broad.mit.edu	37	chr6	51915071	51915071	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agattgccccctgggcgagcCgttccagaatcagcttgaga	9	8	12	12	2	1	3	1	1	0	3	2	5	2	3	4	1	3	2	4	1	1	3			TCGA-G9-6362-01A-11D-1786-08	TCGA-G9-6362-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a3aeec-d8b4-49fe-bf4a-8727ce1d8c06	365931c6-7328-42e9-919f-3b96847af1cc	g.chr6:51915071C>T	ENST00000371117.3	-	22	2438	c.2163G>A	c.(2161-2163)acG>acA	p.T721T	PKHD1_ENST00000340994.4_Silent_p.T721T	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	721					cellular calcium ion homeostasis (GO:0006874)|cilium assembly (GO:0042384)|homeostatic process (GO:0042592)|kidney development (GO:0001822)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular component movement (GO:0051271)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of cell proliferation (GO:0008284)|regulation of centrosome duplication (GO:0010824)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of TOR signaling (GO:0032006)|single organismal cell-cell adhesion (GO:0016337)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|primary cilium (GO:0072372)	receptor activity (GO:0004872)	p.T721T(1)		NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					CTGGGCGAGCCGTTCCAGAAT	0.537											OREG0017493	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000371117.3																			1	Substitution - coding silent(1)	p.T721T(1)	prostate(1)	NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304						c.(2161-2163)acG>acA		polycystic kidney and hepatic disease 1 (autosomal recessive)							62	63	63					6																	51915071		2203	4300	6503	SO:0001819	synonymous_variant	5314				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity	g.chr6:51915071C>T	AF480064	CCDS4935.1, CCDS4936.1	6p21.2-p12	2012-11-26	2003-04-16		ENSG00000170927	ENSG00000170927			9016	protein-coding gene	gene with protein product	"tigmin", "polyductin", "fibrocystin"	606702	"TIG multiple domains 1"	TIGM1		9503014	Standard	NM_138694		Approved	ARPKD, FCYT	uc003pah.1	P08F94	OTTHUMG00000014841	ENST00000371117.3:c.2163G>A	6.37:g.51915071C>T			OREG0017493	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	981	PKHD1_ENST00000340994.4_Silent_p.T721T	p.T721T	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN			22	2438	-	Lung NSC(77;0.0605)		721					Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Silent	SNP	ENST00000371117.3	37	c.2163G>A	CCDS4935.1																																																																																				0.537	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040893.1	NM_138694		7	92	0	0	0	0.038147	0	7	92					T	51915071	C	T	51915071	2	4	163	1	0	0	0	0	0	0	0	1	11971	639	23	2		2	PKHD1	6	51915071	Silent	SNP	C	TCGA-G9-6362-01A-11D-1786-08	17110980	51915071	119199996	25	7844											
TSPAN33	340348	broad.mit.edu	37	chr7	128807390	128807390	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gtggtgtggctctaggcctgGccatcccccaggtaacttac	6	10	12	13	0	1	0	0	0	1	0	2	0	2	0	4	5	2	2	4	5	3	3			TCGA-G9-6362-01A-11D-1786-08	TCGA-G9-6362-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a3aeec-d8b4-49fe-bf4a-8727ce1d8c06	365931c6-7328-42e9-919f-3b96847af1cc	g.chr7:128807390G>A	ENST00000289407.4	+	7	848	c.739G>A	c.(739-741)Gcc>Acc	p.A247T	RP11-286H14.6_ENST00000498745.1_RNA|Y_RNA_ENST00000363759.1_RNA	NM_178562.3	NP_848657.1	Q86UF1	TSN33_HUMAN	tetraspanin 33	247					establishment of protein localization to plasma membrane (GO:0090002)|protein maturation (GO:0051604)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tetraspanin-enriched microdomain (GO:0097197)	enzyme binding (GO:0019899)	p.A247T(1)		NS(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	14						TCTAGGCCTGGCCATCCCCCA	0.507																																						ENST00000289407.4																			1	Substitution - Missense(1)	p.A247T(1)	prostate(1)	NS(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	14						c.(739-741)Gcc>Acc		tetraspanin 33							152	145	147					7																	128807390		2203	4300	6503	SO:0001583	missense	340348					integral to membrane		g.chr7:128807390G>A		CCDS5810.1	7q32.3	2013-02-14			ENSG00000158457	ENSG00000158457		"Tetraspanins"	28743	protein-coding gene	gene with protein product		610120				16213355, 16242907	Standard	XM_006715960		Approved	MGC50844, Penumbra	uc003vop.2	Q86UF1	OTTHUMG00000158420	ENST00000289407.4:c.739G>A	7.37:g.128807390G>A	ENSP00000289407:p.Ala247Thr						p.A247T	NM_178562.3	NP_848657.1	Q86UF1	TSN33_HUMAN			7	848	+			247						Missense_Mutation	SNP	ENST00000289407.4	37	c.739G>A	CCDS5810.1	.	.	.	.	.	.	.	.	.	.	G	18.32	3.597768	0.66332	.	.	ENSG00000158457	ENST00000289407	D	0.81996	-1.56	5.72	5.72	0.89469	.	0.101382	0.64402	D	0.000002	D	0.88314	0.6403	M	0.83953	2.67	0.58432	D	0.99999	B	0.31153	0.31	B	0.41813	0.367	D	0.87937	0.2714	10	0.66056	D	0.02	-0.6054	17.3806	0.87403	0.0:0.0:1.0:0.0	.	247	Q86UF1	TSN33_HUMAN	T	247	ENSP00000289407:A247T	ENSP00000289407:A247T	A	+	1	0	TSPAN33	128594626	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.279000	0.65597	2.709000	0.92574	0.655000	0.94253	GCC		0.507	TSPAN33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350983.1	NM_178562		4	137	0	0	0	0.014758	0	4	137					A	128807390	G	A	128807390	3	1	163	1	0	0	0	0	1	0	0	0	16645	1203	42	3	765	3	TSPAN33	7	128807390	Missense_Mutation	SNP	G	TCGA-G9-6362-01A-11D-1786-08		128807390	30331273	26	7845											
INTS10	55174	broad.mit.edu	37	chr8	19690802	19690802	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agggcgctcatccagctggcGacgtgccactttgcgctagg	6	8	14	13	4	1	0	1	0	0	0	2	1	2	0	2	3	3	3	2	3	1	2			TCGA-G9-6362-01A-11D-1786-08	TCGA-G9-6362-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a3aeec-d8b4-49fe-bf4a-8727ce1d8c06	365931c6-7328-42e9-919f-3b96847af1cc	g.chr8:19690802G>A	ENST00000397977.3	+	12	1898	c.1500G>A	c.(1498-1500)gcG>gcA	p.A500A		NM_018142.2	NP_060612.2	Q9NVR2	INT10_HUMAN	integrator complex subunit 10	500					snRNA processing (GO:0016180)	integrator complex (GO:0032039)		p.A500A(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	20				Colorectal(111;0.057)|COAD - Colon adenocarcinoma(73;0.215)		TCCAGCTGGCGACGTGCCACT	0.607																																						ENST00000397977.3																			1	Substitution - coding silent(1)	p.A500A(1)	prostate(1)	breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	20						c.(1498-1500)gcG>gcA		integrator complex subunit 10							36	41	40					8																	19690802		2111	4247	6358	SO:0001819	synonymous_variant	55174				snRNA processing	integrator complex	protein binding	g.chr8:19690802G>A	AK001431	CCDS6011.2	8p21.3	2006-04-26	2006-03-15	2006-03-15	ENSG00000104613	ENSG00000104613			25548	protein-coding gene	gene with protein product		611353	"chromosome 8 open reading frame 35"	C8orf35		16239144	Standard	XM_005273558		Approved	FLJ10569, INT10	uc003wzj.3	Q9NVR2	OTTHUMG00000131065	ENST00000397977.3:c.1500G>A	8.37:g.19690802G>A							p.A500A	NM_018142.2	NP_060612.2	Q9NVR2	INT10_HUMAN		Colorectal(111;0.057)|COAD - Colon adenocarcinoma(73;0.215)	12	1898	+			500					Q6IA93|Q7L538|Q7L8C8|Q9H3W8	Silent	SNP	ENST00000397977.3	37	c.1500G>A	CCDS6011.2	.	.	.	.	.	.	.	.	.	.	G	4.162	0.028632	0.08054	.	.	ENSG00000104613	ENST00000518799	.	.	.	5.37	-10.7	0.00240	.	.	.	.	.	T	0.59445	0.2194	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.76833	-0.2813	4	.	.	.	-17.7037	15.0772	0.72084	0.5008:0.4313:0.0678:0.0	.	.	.	.	N	83	.	.	D	+	1	0	INTS10	19735082	0.000000	0.05858	0.002000	0.10522	0.419000	0.31324	-5.972000	0.00087	-3.956000	0.00087	-0.251000	0.11542	GAC		0.607	INTS10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253724.2	NM_018142		12	44	0	0	0	0.105934	0	12	44					A	19690802	G	A	19690802	2	1	163	1	0	0	0	0	0	0	0	1	7776	1045	37	2		2	INTS10	8	19690802	Silent	SNP	G	TCGA-G9-6362-01A-11D-1786-08		19690802	126673220	27	7846											
FUT10	84750	broad.mit.edu	37	chr8	33246843	33246843	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agtgatgtagtcatcacaaaCtgcattctcaaaagctagga	15	10	8	8	0	3	1	3	1	1	0	4	2	3	2	0	1	3	3	0	1	5	3			TCGA-G9-6362-01A-11D-1786-08	TCGA-G9-6362-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a3aeec-d8b4-49fe-bf4a-8727ce1d8c06	365931c6-7328-42e9-919f-3b96847af1cc	g.chr8:33246843C>T	ENST00000327671.5	-	4	1481	c.850G>A	c.(850-852)Gtt>Att	p.V284I	FUT10_ENST00000518672.1_Missense_Mutation_p.V256I|FUT10_ENST00000518076.1_5'UTR|FUT10_ENST00000524021.1_Missense_Mutation_p.V256I|FUT10_ENST00000335589.3_Missense_Mutation_p.V222I	NM_032664.3	NP_116053.3	Q6P4F1	FUT10_HUMAN	fucosyltransferase 10 (alpha (1,3) fucosyltransferase)	284					embryo development (GO:0009790)|fertilization (GO:0009566)|fucosylation (GO:0036065)|hemopoiesis (GO:0030097)|L-fucose catabolic process (GO:0042355)|nervous system development (GO:0007399)|protein folding (GO:0006457)|protein glycosylation (GO:0006486)|protein targeting (GO:0006605)|wound healing (GO:0042060)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	alpha-(1->3)-fucosyltransferase activity (GO:0046920)	p.V284I(1)		cervix(1)|endometrium(1)|large_intestine(7)|liver(1)|lung(9)|ovary(1)|pancreas(1)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2)	29				KIRC - Kidney renal clear cell carcinoma(67;0.129)|Kidney(114;0.154)		TCATCACAAACTGCATTCTCA	0.468																																						ENST00000327671.5																			1	Substitution - Missense(1)	p.V284I(1)	prostate(1)	cervix(1)|endometrium(1)|large_intestine(7)|liver(1)|lung(9)|ovary(1)|pancreas(1)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2)	29						c.(850-852)Gtt>Att		fucosyltransferase 10 (alpha (1,3) fucosyltransferase)							85	79	81					8																	33246843		2203	4300	6503	SO:0001583	missense	84750				embryo development|fertilization|hemopoiesis|L-fucose catabolic process|nervous system development|protein folding|protein glycosylation|protein targeting|wound healing	Golgi cisterna membrane|integral to membrane	alpha(1,3)-fucosyltransferase activity	g.chr8:33246843C>T	AJ512465	CCDS6088.1	8p12	2013-02-26			ENSG00000172728	ENSG00000172728		"Fucosyltransferases"	19234	protein-coding gene	gene with protein product							Standard	NM_032664		Approved		uc003xje.3	Q6P4F1	OTTHUMG00000163954	ENST00000327671.5:c.850G>A	8.37:g.33246843C>T	ENSP00000332757:p.Val284Ile					FUT10_ENST00000518076.1_5'UTR|FUT10_ENST00000524021.1_Missense_Mutation_p.V256I|FUT10_ENST00000335589.3_Missense_Mutation_p.V222I|FUT10_ENST00000518672.1_Missense_Mutation_p.V256I	p.V284I	NM_032664.3	NP_116053.3	Q6P4F1	FUT10_HUMAN		KIRC - Kidney renal clear cell carcinoma(67;0.129)|Kidney(114;0.154)	4	1481	-			284					A8KAC8|Q70GG3|Q8IVI6|Q8IVI7|Q8IVJ3|Q8TE43|Q9BSR3	Missense_Mutation	SNP	ENST00000327671.5	37	c.850G>A	CCDS6088.1	.	.	.	.	.	.	.	.	.	.	c	0.806	-0.753804	0.03041	.	.	ENSG00000172728	ENST00000327671;ENST00000380081;ENST00000518672;ENST00000524021;ENST00000335589	T;T;T;T	0.25250	1.96;1.96;1.96;1.81	5.22	3.43	0.39272	.	0.301587	0.30277	N	0.009999	T	0.10508	0.0257	N	0.05619	-0.005	0.30280	N	0.791446	B;B;B;B;B;B	0.10296	0.003;0.0;0.001;0.0;0.0;0.0	B;B;B;B;B;B	0.16289	0.015;0.001;0.003;0.005;0.009;0.004	T	0.31943	-0.9925	10	0.02654	T	1	-1.9925	10.0253	0.42068	0.0:0.8343:0.0:0.1657	.	334;284;256;222;284;326	B4E056;Q6P4F1-5;Q6P4F1-4;Q6P4F1-3;Q6P4F1;E7EU36	.;.;.;.;FUT10_HUMAN;.	I	284;326;256;256;222	ENSP00000332757:V284I;ENSP00000430428:V256I;ENSP00000429870:V256I;ENSP00000334997:V222I	ENSP00000332757:V284I	V	-	1	0	FUT10	33366385	0.479000	0.25925	0.009000	0.14445	0.740000	0.42216	0.984000	0.29565	0.707000	0.31934	0.552000	0.68991	GTT		0.468	FUT10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376540.1	NM_032664		8	46	0	0	0	0.038147	0	8	46					T	33246843	C	T	33246843	3	4	163	1	0	0	0	0	1	0	0	0	6102	565	20	3	597	3	FUT10	8	33246843	Missense_Mutation	SNP	C	TCGA-G9-6362-01A-11D-1786-08	13556041	33246843	113117179	28	7847											
DNAJC5B	85479	broad.mit.edu	37	chr8	67012255	67012255	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaggatctcgaagttattgcAcagactcttgatattgagcc	12	12	9	8	1	2	3	0	2	2	1	3	5	2	4	1	1	2	2	1	1	4	5	rs558068876		TCGA-G9-6362-01A-11D-1786-08	TCGA-G9-6362-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a3aeec-d8b4-49fe-bf4a-8727ce1d8c06	365931c6-7328-42e9-919f-3b96847af1cc	g.chr8:67012255A>T	ENST00000276570.5	+	6	876	c.589A>T	c.(589-591)Aca>Tca	p.T197S	DNAJC5B_ENST00000519330.1_3'UTR	NM_033105.4	NP_149096.2	Q9UF47	DNJ5B_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 5 beta	197						membrane (GO:0016020)		p.T197S(1)		endometrium(3)|large_intestine(6)|liver(1)|lung(6)|prostate(1)|skin(3)	20		Lung NSC(129;0.114)|all_lung(136;0.188)	Epithelial(68;0.0213)|all cancers(69;0.0839)|BRCA - Breast invasive adenocarcinoma(89;0.0886)|OV - Ovarian serous cystadenocarcinoma(28;0.112)			AAGTTATTGCACAGACTCTTG	0.448																																						ENST00000276570.5																			1	Substitution - Missense(1)	p.T197S(1)	prostate(1)	endometrium(3)|large_intestine(6)|liver(1)|lung(6)|prostate(1)|skin(3)	20						c.(589-591)Aca>Tca		DnaJ (Hsp40) homolog, subfamily C, member 5 beta							103	94	97					8																	67012255		2203	4300	6503	SO:0001583	missense	85479				protein folding	membrane	heat shock protein binding|unfolded protein binding	g.chr8:67012255A>T	AF368276	CCDS6183.1	8q13.1	2012-10-02			ENSG00000147570	ENSG00000147570		"Heat shock proteins / DNAJ (HSP40)"	24138	protein-coding gene	gene with protein product		613945				12477932	Standard	NM_033105		Approved	MGC26226, CSP-beta	uc003xvs.1	Q9UF47	OTTHUMG00000164470	ENST00000276570.5:c.589A>T	8.37:g.67012255A>T	ENSP00000276570:p.Thr197Ser					DNAJC5B_ENST00000519330.1_3'UTR	p.T197S	NM_033105.4	NP_149096.2	Q9UF47	DNJ5B_HUMAN	Epithelial(68;0.0213)|all cancers(69;0.0839)|BRCA - Breast invasive adenocarcinoma(89;0.0886)|OV - Ovarian serous cystadenocarcinoma(28;0.112)		6	876	+		Lung NSC(129;0.114)|all_lung(136;0.188)	197					Q969Y8	Missense_Mutation	SNP	ENST00000276570.5	37	c.589A>T	CCDS6183.1	.	.	.	.	.	.	.	.	.	.	A	17.88	3.496448	0.64186	.	.	ENSG00000147570	ENST00000276570	T	0.72167	-0.63	5.96	4.8	0.61643	.	0.064962	0.64402	D	0.000019	T	0.63792	0.2541	L	0.56199	1.76	0.32165	N	0.582374	P	0.41624	0.757	B	0.39185	0.293	T	0.75001	-0.3471	10	0.66056	D	0.02	.	9.1036	0.36685	0.9156:0.0:0.0844:0.0	.	197	Q9UF47	DNJ5B_HUMAN	S	197	ENSP00000276570:T197S	ENSP00000276570:T197S	T	+	1	0	DNAJC5B	67174809	1.000000	0.71417	1.000000	0.80357	0.521000	0.34408	2.486000	0.45259	2.277000	0.76020	0.528000	0.53228	ACA		0.448	DNAJC5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378915.1	NM_033105		4	24	0	0	0	0.014758	0	4	24					T	67012255	A	T	67012255	3	4	163	1	0	0	0	0	1	0	0	0	4651	159	6	5	603	5	DNAJC5B	8	67012255	Missense_Mutation	SNP	A	TCGA-G9-6362-01A-11D-1786-08	33765412	67012255	79351767	29	7848											
FAM83H	286077	broad.mit.edu	37	chr8	144811144	144811144	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccgcgggcgcacctgtagcTcccactcatcaccacggcac	7	5	9	20	4	2	0	2	0	0	0	3	0	3	0	4	2	1	4	4	2	1	1			TCGA-G9-6362-01A-11D-1786-08	TCGA-G9-6362-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a3aeec-d8b4-49fe-bf4a-8727ce1d8c06	365931c6-7328-42e9-919f-3b96847af1cc	g.chr8:144811144T>C	ENST00000388913.3	-	4	855	c.730A>G	c.(730-732)Agc>Ggc	p.S244G		NM_198488.3	NP_940890	Q6ZRV2	FA83H_HUMAN	family with sequence similarity 83, member H	244					biomineral tissue development (GO:0031214)			p.S244G(1)		central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(12)|pancreas(1)|prostate(3)|urinary_tract(1)	21	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			CACCTGTAGCTCCCACTCATC	0.662																																						ENST00000388913.3																			1	Substitution - Missense(1)	p.S244G(1)	prostate(1)	central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(12)|pancreas(1)|prostate(3)|urinary_tract(1)	21						c.(730-732)Agc>Ggc		family with sequence similarity 83, member H							61	74	70					8																	144811144		2091	4206	6297	SO:0001583	missense	286077				biomineral tissue development			g.chr8:144811144T>C	AK127960	CCDS6410.2	8q24.3	2014-03-13			ENSG00000180921	ENSG00000180921			24797	protein-coding gene	gene with protein product		611927				18252228	Standard	NM_198488		Approved	FLJ46072	uc003yzk.3	Q6ZRV2	OTTHUMG00000133559	ENST00000388913.3:c.730A>G	8.37:g.144811144T>C	ENSP00000373565:p.Ser244Gly						p.S244G	NM_198488.3	NP_940890.3	Q6ZRV2	FA83H_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)		4	855	-	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		244					A0JLS2|Q8N4W0	Missense_Mutation	SNP	ENST00000388913.3	37	c.730A>G	CCDS6410.2	.	.	.	.	.	.	.	.	.	.	t	23.1	4.375347	0.82682	.	.	ENSG00000180921	ENST00000388913	T	0.32515	1.45	4.91	4.91	0.64330	.	0.333887	0.34750	N	0.003708	T	0.48390	0.1497	M	0.76838	2.35	0.24988	N	0.99156	P	0.48162	0.906	P	0.52343	0.696	T	0.49978	-0.8881	10	0.87932	D	0	.	14.0383	0.64658	0.0:0.0:0.0:1.0	.	244	Q6ZRV2	FA83H_HUMAN	G	244	ENSP00000373565:S244G	ENSP00000373565:S244G	S	-	1	0	FAM83H	144883132	1.000000	0.71417	0.998000	0.56505	0.993000	0.82548	3.794000	0.55492	1.970000	0.57323	0.454000	0.30748	AGC		0.662	FAM83H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257632.2	NM_198488		8	108	0	0	0	0.047766	0	8	108					C	144811144	T	C	144811144	3	2	163	1	0	0	0	0	1	0	0	0	5640	1551	54	4	2817	4	FAM83H	8	144811144	Missense_Mutation	SNP	T	TCGA-G9-6362-01A-11D-1786-08	77798889	144811144	1552878	30	7849											
OR13C5	138799	broad.mit.edu	37	chr9	107361114	107361114	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	caagcaggatgaactcattgCctgagatgtcagcacaggcc	12	7	11	11	0	2	2	2	2	0	1	2	4	2	3	2	2	4	2	2	2	2	1	rs76558719		TCGA-G9-6362-01A-11D-1786-08	TCGA-G9-6362-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a3aeec-d8b4-49fe-bf4a-8727ce1d8c06	365931c6-7328-42e9-919f-3b96847af1cc	g.chr9:107361114C>T	ENST00000374779.2	-	1	674	c.581G>A	c.(580-582)gGc>gAc	p.G194D		NM_001004482.1	NP_001004482.1	Q8NGS8	O13C5_HUMAN	olfactory receptor, family 13, subfamily C, member 5	194						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.G194D(1)		endometrium(4)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|pancreas(2)|prostate(2)|skin(4)	28						GAACTCATTGCCTGAGATGTC	0.383													C|||	1	0.000199681	8e-04	0	5008	,	,		24553	0		0	False		,,,				2504	0					ENST00000374779.2																			1	Substitution - Missense(1)	p.G194D(1)	prostate(1)	endometrium(4)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|pancreas(2)|prostate(2)|skin(4)	28						c.(580-582)gGc>gAc		olfactory receptor, family 13, subfamily C, member 5							188	173	178					9																	107361114		2203	4300	6503	SO:0001583	missense	138799				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:107361114C>T		CCDS35091.1	9q31.1	2012-10-03			ENSG00000255800	ENSG00000277556		"GPCR / Class A : Olfactory receptors"	15100	protein-coding gene	gene with protein product							Standard	NM_001004482		Approved		uc011lvp.2	Q8NGS8	OTTHUMG00000020408	ENST00000374779.2:c.581G>A	9.37:g.107361114C>T	ENSP00000363911:p.Gly194Asp						p.G194D	NM_001004482.1	NP_001004482.1	Q8NGS8	O13C5_HUMAN			1	674	-			194					B2RNE5|B9EGW5|Q6IF53	Missense_Mutation	SNP	ENST00000374779.2	37	c.581G>A	CCDS35091.1	.	.	.	.	.	.	.	.	.	.	C	12.06	1.825228	0.32237	.	.	ENSG00000255800	ENST00000374779	T	0.00091	8.74	4.17	-8.33	0.00992	GPCR, rhodopsin-like superfamily (1);	0.502926	0.14712	U	0.302890	T	0.00073	0.0002	N	0.12182	0.205	0.09310	N	1	B	0.02656	0.0	B	0.08055	0.003	T	0.39702	-0.9601	10	0.51188	T	0.08	.	4.2242	0.10572	0.6078:0.1243:0.0925:0.1754	.	194	Q8NGS8	O13C5_HUMAN	D	194	ENSP00000363911:G194D	ENSP00000363911:G194D	G	-	2	0	OR13C5	106400935	0.000000	0.05858	0.000000	0.03702	0.367000	0.29736	-0.970000	0.03810	-1.910000	0.01083	0.531000	0.56144	GGC		0.383	OR13C5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053479.2	NM_001004482		5	177	0	0	0	0.021553	0	5	177					T	107361114	C	T	107361114	3	4	163	1	0	0	0	0	1	0	0	0	10937	739	26	3	377	3	OR13C5	9	107361114	Missense_Mutation	SNP	C	TCGA-G9-6362-01A-11D-1786-08		107361114	33852317	31	7850											
CDK5RAP2	55755	broad.mit.edu	37	chr9	123171436	123171436	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctggccgctgcagcggacctCctggatcagctgctggttgt	4	10	14	13	2	1	0	1	0	0	0	2	2	2	2	3	4	4	5	3	4	0	1			TCGA-G9-6362-01A-11D-1786-08	TCGA-G9-6362-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a3aeec-d8b4-49fe-bf4a-8727ce1d8c06	365931c6-7328-42e9-919f-3b96847af1cc	g.chr9:123171436C>A	ENST00000349780.4	-	30	4752	c.4573G>T	c.(4573-4575)Gag>Tag	p.E1525*	CDK5RAP2_ENST00000360822.3_Nonsense_Mutation_p.E1493*|CDK5RAP2_ENST00000360190.4_Nonsense_Mutation_p.E1525*|CDK5RAP2_ENST00000359309.3_Nonsense_Mutation_p.E1484*	NM_018249.4	NP_060719.4	Q96SN8	CK5P2_HUMAN	CDK5 regulatory subunit associated protein 2	1525					brain development (GO:0007420)|centrosome organization (GO:0051297)|chromosome segregation (GO:0007059)|establishment of mitotic spindle orientation (GO:0000132)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule bundle formation (GO:0001578)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|negative regulation of centriole replication (GO:0046600)|negative regulation of neuron differentiation (GO:0045665)|neurogenesis (GO:0022008)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of neuron differentiation (GO:0045664)|regulation of spindle checkpoint (GO:0090231)	cell junction (GO:0030054)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|pericentriolar material (GO:0000242)|perinuclear region of cytoplasm (GO:0048471)|spindle pole (GO:0000922)	calmodulin binding (GO:0005516)|microtubule binding (GO:0008017)|protein kinase binding (GO:0019901)|transcription regulatory region DNA binding (GO:0044212)|tubulin binding (GO:0015631)	p.E1525*(1)		breast(6)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	58						CAGCGGACCTCCTGGATCAGC	0.612																																						ENST00000349780.4																			1	Substitution - Nonsense(1)	p.E1525*(1)	prostate(1)	breast(6)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	58						c.(4573-4575)Gag>Tag		CDK5 regulatory subunit associated protein 2							186	139	155					9																	123171436		2203	4300	6503	SO:0001587	stop_gained	55755				brain development|centrosome organization|chromosome segregation|G2/M transition of mitotic cell cycle|microtubule bundle formation|negative regulation of centriole replication|positive regulation of transcription, DNA-dependent|regulation of neuron differentiation|regulation of spindle checkpoint	cytosol|Golgi apparatus|microtubule|pericentriolar material|perinuclear region of cytoplasm|spindle pole	calmodulin binding|microtubule binding|neuronal Cdc2-like kinase binding|transcription regulatory region DNA binding	g.chr9:123171436C>A	BK005504	CCDS6823.1, CCDS43871.1, CCDS75888.1	9q33.3	2014-02-21			ENSG00000136861	ENSG00000136861			18672	protein-coding gene	gene with protein product	"centrosomin"	608201	"microcephaly, primary autosomal recessive 3"	MCPH3		10721722, 17764569, 24466316	Standard	NM_018249		Approved	C48, FLJ10867, CEP215	uc004bkf.4	Q96SN8	OTTHUMG00000021043	ENST00000349780.4:c.4573G>T	9.37:g.123171436C>A	ENSP00000343818:p.Glu1525*					CDK5RAP2_ENST00000359309.3_Nonsense_Mutation_p.E1484*|CDK5RAP2_ENST00000360822.3_Nonsense_Mutation_p.E1493*|CDK5RAP2_ENST00000360190.4_Nonsense_Mutation_p.E1525*	p.E1525*	NM_018249.4	NP_060719.4	Q96SN8	CK5P2_HUMAN			30	4752	-			1525					Q5JV18|Q7Z3L4|Q7Z3U1|Q7Z7I6|Q9BSW0|Q9H6J6|Q9HCD9|Q9NV90|Q9UIW9	Nonsense_Mutation	SNP	ENST00000349780.4	37	c.4573G>T	CCDS6823.1	.	.	.	.	.	.	.	.	.	.	C	37	6.206363	0.97376	.	.	ENSG00000136861	ENST00000360822;ENST00000359309;ENST00000349780;ENST00000360190;ENST00000416449;ENST00000425647;ENST00000345313	.	.	.	4.73	4.73	0.59995	.	0.247697	0.28327	N	0.015754	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	13.606	0.62048	0.0:0.845:0.155:0.0	.	.	.	.	X	1493;1484;1525;1525;919;535;1297	.	ENSP00000341695:E1297X	E	-	1	0	CDK5RAP2	122211257	0.954000	0.32549	0.997000	0.53966	0.576000	0.36127	2.671000	0.46842	2.344000	0.79699	0.467000	0.42956	GAG		0.612	CDK5RAP2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055535.1	NM_018249		5	70	1	0	0.014758	0.014758	0.0153256	5	70					A	123171436	C	A	123171436	4	1	163	1	0	0	0	0	0	1	0	0	3146	864	30	5	1144	5	CDK5RAP2	9	123171436	Nonsense_Mutation	SNP	C	TCGA-G9-6362-01A-11D-1786-08	15810322	123171436	18041995	32	7851											
SLC25A25	114789	broad.mit.edu	37	chr9	130854176	130854176	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cagatgctgtggcatttcctAgctagctttttccccagggc	6	13	10	12	0	0	1	0	0	0	1	2	1	2	1	3	2	3	4	3	2	2	5			TCGA-G9-6362-01A-11D-1786-08	TCGA-G9-6362-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a3aeec-d8b4-49fe-bf4a-8727ce1d8c06	365931c6-7328-42e9-919f-3b96847af1cc	g.chr9:130854176A>G	ENST00000373066.5	+	1	434	c.27A>G	c.(25-27)ctA>ctG	p.L9L	SLC25A25_ENST00000373068.2_Intron|RP11-379C10.4_ENST00000453870.1_RNA|SLC25A25_ENST00000373069.5_Intron|SLC25A25_ENST00000432073.2_Silent_p.L9L	NM_001265614.2	NP_001252543.1	Q6KCM7	SCMC2_HUMAN	solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 25	0					adipose tissue development (GO:0060612)|ATP metabolic process (GO:0046034)|calcium ion transmembrane transport (GO:0070588)|camera-type eye development (GO:0043010)|cellular respiration (GO:0045333)|multicellular organism growth (GO:0035264)|response to activity (GO:0014823)|response to dietary excess (GO:0002021)|response to food (GO:0032094)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)	p.L9L(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)	10						GGCATTTCCTAGCTAGCTTTT	0.577																																						ENST00000373066.5																			1	Substitution - coding silent(1)	p.L9L(1)	prostate(1)	breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)	10						c.(25-27)ctA>ctG		solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 25							115	129	125					9																	130854176		2039	4197	6236	SO:0001819	synonymous_variant	114789				transmembrane transport	integral to membrane|mitochondrial inner membrane	calcium ion binding	g.chr9:130854176A>G	AJ619963	CCDS6890.1, CCDS35151.1, CCDS48031.1, CCDS59146.1	9q34	2013-05-22			ENSG00000148339	ENSG00000148339		"Solute carriers", "EF-hand domain containing"	20663	protein-coding gene	gene with protein product		608745				15123600	Standard	NM_052901		Approved	KIAA1896, PCSCL, MCSC	uc004btb.4	Q6KCM7	OTTHUMG00000020736	ENST00000373066.5:c.27A>G	9.37:g.130854176A>G						SLC25A25_ENST00000373069.5_Intron|SLC25A25_ENST00000373068.2_Intron|RP11-379C10.4_ENST00000453870.1_RNA|SLC25A25_ENST00000432073.2_Silent_p.L9L	p.L9L	NM_001265614.2	NP_001252543.1	Q6KCM7	SCMC2_HUMAN			1	434	+			0					Q5SYW7|Q5SYW8|Q5SYX3|Q5VWU2|Q5VWU3|Q5VWU4|Q6KCM4|Q6KCM6|Q6UX48|Q705K2|Q96PZ1|Q9BSA6	Silent	SNP	ENST00000373066.5	37	c.27A>G	CCDS59146.1																																																																																				0.577	SLC25A25-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054406.1	NM_052901		95	161	0	0	0	0.048971	0	95	161					G	130854176	A	G	130854176	2	3	163	1	0	0	0	0	0	0	0	1	14488	407	15	4		4	SLC25A25	9	130854176	Silent	SNP	A	TCGA-G9-6362-01A-11D-1786-08	7682740	130854176	10359255	33	7852											
FIBCD1	84929	broad.mit.edu	37	chr9	133780631	133780631	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggagcctcacctgcagtgccGgaatagtcagccacggtgag	9	6	14	12	2	2	1	2	1	0	0	2	3	2	3	4	3	4	1	4	3	2	1	rs142382814		TCGA-G9-6362-01A-11D-1786-08	TCGA-G9-6362-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a3aeec-d8b4-49fe-bf4a-8727ce1d8c06	365931c6-7328-42e9-919f-3b96847af1cc	g.chr9:133780631G>A	ENST00000372338.4	-	6	1358	c.1116C>T	c.(1114-1116)tcC>tcT	p.S372S	FIBCD1_ENST00000253018.4_Intron|FIBCD1_ENST00000372337.2_Silent_p.S214S|FIBCD1_ENST00000448616.1_Silent_p.S372S	NM_032843.4	NP_116232.3	Q8N539	FBCD1_HUMAN	fibrinogen C domain containing 1	372	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.					integral component of membrane (GO:0016021)|membrane (GO:0016020)	chitin binding (GO:0008061)|metal ion binding (GO:0046872)	p.S372S(1)		kidney(1)|large_intestine(3)|lung(2)|prostate(5)|urinary_tract(1)	12	all_hematologic(7;0.0028)			OV - Ovarian serous cystadenocarcinoma(145;3.52e-05)|Epithelial(140;0.00019)		CTGCAGTGCCGGAATAGTCAG	0.647																																						ENST00000372338.4																			1	Substitution - coding silent(1)	p.S372S(1)	prostate(1)	kidney(1)|large_intestine(3)|lung(2)|prostate(5)|urinary_tract(1)	12						c.(1114-1116)tcC>tcT		fibrinogen C domain containing 1		G	,	1,4405	2.1+/-5.4	0,1,2202	40	36	38		1116,1116	-9.2	0.7	9	dbSNP_134	38	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	FIBCD1	NM_001145106.1,NM_032843.4	,	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	,	372/462,372/462	133780631	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	84929				signal transduction	extracellular space|integral to membrane	chitin binding|metal ion binding|receptor binding	g.chr9:133780631G>A	AK027716	CCDS6937.1	9q34.2	2013-02-06			ENSG00000130720	ENSG00000130720		"Fibrinogen C domain containing"	25922	protein-coding gene	gene with protein product		613357				12975309	Standard	NM_001145106		Approved	FLJ14810	uc004bzz.3	Q8N539	OTTHUMG00000020814	ENST00000372338.4:c.1116C>T	9.37:g.133780631G>A						FIBCD1_ENST00000448616.1_Silent_p.S372S|FIBCD1_ENST00000253018.4_Intron|FIBCD1_ENST00000372337.2_Silent_p.S214S	p.S372S	NM_032843.4	NP_116232.3	Q8N539	FBCD1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;3.52e-05)|Epithelial(140;0.00019)	6	1358	-	all_hematologic(7;0.0028)		372			Fibrinogen C-terminal.		A3KFK0|Q6UXK6|Q96SJ7	Silent	SNP	ENST00000372338.4	37	c.1116C>T	CCDS6937.1																																																																																				0.647	FIBCD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054687.2	NM_032843		8	19	0	0	0	0.069234	0	8	19					A	133780631	G	A	133780631	2	1	163	1	0	0	0	0	0	0	0	1	5884	1103	39	2		2	FIBCD1	9	133780631	Silent	SNP	G	TCGA-G9-6362-01A-11D-1786-08	2926455	133780631	7432800	34	7853											
CYB5R2	51700	broad.mit.edu	37	chr11	7690490	7690490	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgaaaaaagatggtctcccCgattttcatgttctccaaat	12	13	6	10	2	3	1	1	0	2	1	6	3	3	1	3	1	0	1	3	1	4	3			TCGA-G9-6362-01A-11D-1786-08	TCGA-G9-6362-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a3aeec-d8b4-49fe-bf4a-8727ce1d8c06	365931c6-7328-42e9-919f-3b96847af1cc	g.chr11:7690490C>T	ENST00000533558.1	-	5	890	c.334G>A	c.(334-336)Ggg>Agg	p.G112R	CYB5R2_ENST00000528585.1_5'UTR|CYB5R2_ENST00000299498.6_Missense_Mutation_p.G112R|CYB5R2_ENST00000299497.9_Missense_Mutation_p.G112R|CYB5R2_ENST00000524790.1_Missense_Mutation_p.G112R			Q6BCY4	NB5R2_HUMAN	cytochrome b5 reductase 2	112	FAD-binding FR-type. {ECO:0000255|PROSITE-ProRule:PRU00716}.				oxidation-reduction process (GO:0055114)|sterol biosynthetic process (GO:0016126)	membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	cytochrome-b5 reductase activity, acting on NAD(P)H (GO:0004128)	p.G112R(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)	11				Epithelial(150;5.48e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		ATGGTCTCCCCGATTTTCATG	0.483																																						ENST00000533558.1																			1	Substitution - Missense(1)	p.G112R(1)	prostate(1)	cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)	11						c.(334-336)Ggg>Agg		cytochrome b5 reductase 2							155	146	149					11																	7690490		2201	4296	6497	SO:0001583	missense	51700				sterol biosynthetic process	membrane|soluble fraction	cytochrome-b5 reductase activity	g.chr11:7690490C>T	AF169802	CCDS7780.1	11p15.4	2014-08-12			ENSG00000166394	ENSG00000166394	1.6.2.2		24376	protein-coding gene	gene with protein product		608342				10611283	Standard	XM_005252973		Approved		uc001mfm.3	Q6BCY4	OTTHUMG00000165665	ENST00000533558.1:c.334G>A	11.37:g.7690490C>T	ENSP00000437041:p.Gly112Arg					CYB5R2_ENST00000299497.9_Missense_Mutation_p.G112R|CYB5R2_ENST00000299498.6_Missense_Mutation_p.G112R|CYB5R2_ENST00000528585.1_5'UTR|CYB5R2_ENST00000524790.1_Missense_Mutation_p.G112R	p.G112R			Q6BCY4	NB5R2_HUMAN		Epithelial(150;5.48e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)	5	890	-			112			FAD-binding FR-type.		Q9BVA3|Q9UF68|Q9UHJ0	Missense_Mutation	SNP	ENST00000533558.1	37	c.334G>A	CCDS7780.1	.	.	.	.	.	.	.	.	.	.	C	27.3	4.815040	0.90790	.	.	ENSG00000166394	ENST00000524790;ENST00000299498;ENST00000533558;ENST00000299497;ENST00000531096;ENST00000527542;ENST00000524608;ENST00000436351	D;D;D;D;D;D;D;D	0.97279	-4.32;-4.32;-4.32;-4.32;-4.32;-4.32;-4.32;-4.32	5.37	5.37	0.77165	Riboflavin synthase-like beta-barrel (1);Ferredoxin reductase-type FAD-binding domain (1);Oxidoreductase, FAD-binding domain (1);	0.100867	0.64402	D	0.000002	D	0.99083	0.9685	H	0.97940	4.11	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.73708	0.969;0.981	D	0.99063	1.0831	10	0.87932	D	0	-16.8903	16.6555	0.85227	0.0:1.0:0.0:0.0	.	112;112	E9PIV9;Q6BCY4	.;NB5R2_HUMAN	R	112;112;112;112;112;112;172;112	ENSP00000435916:G112R;ENSP00000299498:G112R;ENSP00000437041:G112R;ENSP00000299497:G112R;ENSP00000434969:G112R;ENSP00000433856:G112R;ENSP00000432482:G172R;ENSP00000392777:G112R	ENSP00000299497:G112R	G	-	1	0	CYB5R2	7647066	1.000000	0.71417	0.999000	0.59377	0.944000	0.59088	5.277000	0.65586	2.793000	0.96121	0.563000	0.77884	GGG		0.483	CYB5R2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385679.1	NM_016229		15	115	0	0	0	0.024245	0	15	115					T	7690490	C	T	7690490	3	4	163	1	0	0	0	0	1	0	0	0	4127	652	23	2	516	2	CYB5R2	11	7690490	Missense_Mutation	SNP	C	TCGA-G9-6362-01A-11D-1786-08		7690490	127316026	35	7854											
OR5T2	219464	broad.mit.edu	37	chr11	55999741	55999741	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gacactatcatgtcatggtcCgaagcatagctggaacttgg	11	10	11	9	1	2	0	2	0	0	0	3	3	3	1	1	3	3	2	1	3	4	3	rs201143815		TCGA-G9-6362-01A-11D-1786-08	TCGA-G9-6362-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a3aeec-d8b4-49fe-bf4a-8727ce1d8c06	365931c6-7328-42e9-919f-3b96847af1cc	g.chr11:55999741C>T	ENST00000313264.4	-	1	996	c.921G>A	c.(919-921)tcG>tcA	p.S307S		NM_001004746.1	NP_001004746.1	Q8NGG2	OR5T2_HUMAN	olfactory receptor, family 5, subfamily T, member 2	307						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S307S(1)		endometrium(6)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(3)	41	Esophageal squamous(21;0.00448)					TGTCATGGTCCGAAGCATAGC	0.408																																						ENST00000313264.4																			1	Substitution - coding silent(1)	p.S307S(1)	prostate(1)	endometrium(6)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(3)	41						c.(919-921)tcG>tcA		olfactory receptor, family 5, subfamily T, member 2							196	172	180					11																	55999741		2201	4296	6497	SO:0001819	synonymous_variant	219464				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55999741C>T	AB065838	CCDS31523.1	11q11	2012-08-09			ENSG00000181718	ENSG00000181718		"GPCR / Class A : Olfactory receptors"	15296	protein-coding gene	gene with protein product							Standard	NM_001004746		Approved		uc010rjc.2	Q8NGG2	OTTHUMG00000166851	ENST00000313264.4:c.921G>A	11.37:g.55999741C>T							p.S307S	NM_001004746.1	NP_001004746.1	Q8NGG2	OR5T2_HUMAN			1	996	-	Esophageal squamous(21;0.00448)		307					B9EGX5|Q6IFC8	Silent	SNP	ENST00000313264.4	37	c.921G>A	CCDS31523.1																																																																																				0.408	OR5T2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391598.1	NM_001004746		6	143	0	0	0	0.02938	0	6	143					T	55999741	C	T	55999741	2	4	163	1	0	0	0	0	0	0	0	1	11182	639	23	2		2	OR5T2	11	55999741	Silent	SNP	C	TCGA-G9-6362-01A-11D-1786-08	48309251	55999741	79006775	36	7855											
EFEMP2	30008	broad.mit.edu	37	chr11	65637423	65637423	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agcagcgctgctcgcatgggGcccccatgtcacactcgttc	6	8	11	16	3	1	0	1	0	0	0	4	0	1	0	2	2	3	5	2	2	0	1			TCGA-G9-6362-01A-11D-1786-08	TCGA-G9-6362-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a3aeec-d8b4-49fe-bf4a-8727ce1d8c06	365931c6-7328-42e9-919f-3b96847af1cc	g.chr11:65637423G>C	ENST00000307998.6	-	7	862	c.632C>G	c.(631-633)gCc>gGc	p.A211G	EFEMP2_ENST00000528176.1_Missense_Mutation_p.A211G|EFEMP2_ENST00000532648.1_5'Flank	NM_016938.4	NP_058634.4	O95967	FBLN4_HUMAN	EGF containing fibulin-like extracellular matrix protein 2	211	EGF-like 4; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				blood coagulation (GO:0007596)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|vesicle (GO:0031982)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)|transmembrane signaling receptor activity (GO:0004888)	p.A211G(1)		cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21				READ - Rectum adenocarcinoma(159;0.169)		CTCGCATGGGGCCCCCATGTC	0.607																																						ENST00000307998.6																			1	Substitution - Missense(1)	p.A211G(1)	prostate(1)	cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21						c.(631-633)gCc>gGc		EGF containing fibulin-like extracellular matrix protein 2							80	87	85					11																	65637423		2201	4296	6497	SO:0001583	missense	30008				blood coagulation	basement membrane|membrane	calcium ion binding|extracellular matrix structural constituent|protein binding|transmembrane receptor activity	g.chr11:65637423G>C	AF109121	CCDS8116.1	11q13	2011-06-17	2011-01-25		ENSG00000172638	ENSG00000172638		"Fibulins"	3219	protein-coding gene	gene with protein product	"fibulin 4"	604633	"EGF-containing fibulin-like extracellular matrix protein 2"			10601734, 10982184	Standard	NR_037718		Approved	FBLN4, UPH1	uc001ofy.4	O95967	OTTHUMG00000166664	ENST00000307998.6:c.632C>G	11.37:g.65637423G>C	ENSP00000309953:p.Ala211Gly					EFEMP2_ENST00000528176.1_Missense_Mutation_p.A211G	p.A211G	NM_016938.4	NP_058634.4	O95967	FBLN4_HUMAN		READ - Rectum adenocarcinoma(159;0.169)	7	862	-			211			EGF-like 4; calcium-binding (Potential).		A8K7R4|B3KM31|B3KQT1|O75967	Missense_Mutation	SNP	ENST00000307998.6	37	c.632C>G	CCDS8116.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.308477	0.81247	.	.	ENSG00000172638	ENST00000528176;ENST00000307998	D;T	0.86297	-2.1;-1.42	5.6	5.6	0.85130	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.52532	D	0.000078	T	0.78960	0.4366	N	0.01515	-0.825	0.49130	D	0.999757	D;P	0.56746	0.977;0.798	P;P	0.56474	0.799;0.59	T	0.78753	-0.2081	10	0.11794	T	0.64	.	17.1044	0.86658	0.0:0.0:1.0:0.0	.	211;211	E9PRU1;O95967	.;FBLN4_HUMAN	G	211	ENSP00000434151:A211G;ENSP00000309953:A211G	ENSP00000309953:A211G	A	-	2	0	EFEMP2	65393999	1.000000	0.71417	0.998000	0.56505	0.987000	0.75469	4.206000	0.58473	2.644000	0.89710	0.561000	0.74099	GCC		0.607	EFEMP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391047.4	NM_016938		9	127	0	0	0	0.058154	0	9	127					C	65637423	G	C	65637423	3	2	163	1	0	0	0	0	1	0	0	0	4942	1203	42	5	719	5	EFEMP2	11	65637423	Missense_Mutation	SNP	G	TCGA-G9-6362-01A-11D-1786-08	9637682	65637423	69369093	37	7856											
OR4D5	219875	broad.mit.edu	37	chr11	123811134	123811134	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cattccccatggacaaggccGtctctgtgctatacacaatt	10	11	7	13	1	1	0	0	0	1	0	3	1	2	1	3	2	2	1	3	2	4	4	rs564572858		TCGA-G9-6362-01A-11D-1786-08	TCGA-G9-6362-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a3aeec-d8b4-49fe-bf4a-8727ce1d8c06	365931c6-7328-42e9-919f-3b96847af1cc	g.chr11:123811134G>A	ENST00000307033.2	+	1	885	c.811G>A	c.(811-813)Gtc>Atc	p.V271I		NM_001001965.1	NP_001001965.1	Q8NGN0	OR4D5_HUMAN	olfactory receptor, family 4, subfamily D, member 5	271						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V271I(1)		autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		GGACAAGGCCGTCTCTGTGCT	0.493													G|||	1	0.000199681	0	0	5008	,	,		22065	0		0	False		,,,				2504	0.001					ENST00000307033.2																			1	Substitution - Missense(1)	p.V271I(1)	prostate(1)	autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						c.(811-813)Gtc>Atc		olfactory receptor, family 4, subfamily D, member 5							161	131	141					11																	123811134		2202	4299	6501	SO:0001583	missense	219875				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:123811134G>A	BK004316	CCDS31699.1	11q24.1	2012-08-09			ENSG00000171014	ENSG00000171014		"GPCR / Class A : Olfactory receptors"	14852	protein-coding gene	gene with protein product							Standard	NM_001001965		Approved		uc001pzk.1	Q8NGN0	OTTHUMG00000165961	ENST00000307033.2:c.811G>A	11.37:g.123811134G>A	ENSP00000305970:p.Val271Ile						p.V271I	NM_001001965.1	NP_001001965.1	Q8NGN0	OR4D5_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)	1	885	+		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	271					B9EGZ4|Q6IFE6	Missense_Mutation	SNP	ENST00000307033.2	37	c.811G>A	CCDS31699.1	.	.	.	.	.	.	.	.	.	.	G	8.169	0.791230	0.16258	.	.	ENSG00000171014	ENST00000307033	T	0.36878	1.23	5.49	2.39	0.29439	GPCR, rhodopsin-like superfamily (1);	0.000000	0.43747	D	0.000538	T	0.25344	0.0616	L	0.37850	1.14	0.09310	N	1	B	0.14438	0.01	B	0.24006	0.05	T	0.16394	-1.0404	10	0.29301	T	0.29	-13.4657	7.0729	0.25189	0.1492:0.2545:0.5963:0.0	.	271	Q8NGN0	OR4D5_HUMAN	I	271	ENSP00000305970:V271I	ENSP00000305970:V271I	V	+	1	0	OR4D5	123316344	0.000000	0.05858	0.168000	0.22838	0.830000	0.47004	0.194000	0.17135	0.658000	0.30925	0.650000	0.86243	GTC		0.493	OR4D5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387263.1	NM_001001965		36	140	0	0	0	0.069456	0	36	140					A	123811134	G	A	123811134	3	1	163	1	0	0	0	0	1	0	0	0	11057	1145	40	1	813	1	OR4D5	11	123811134	Missense_Mutation	SNP	G	TCGA-G9-6362-01A-11D-1786-08	58173711	123811134	11195382	38	7857											
NTM	50863	broad.mit.edu	37	chr11	132180059	132180059	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gtgtccccgtgggacaaaagGggacactgcagtgtgaagcc	10	6	15	10	1	0	1	0	1	0	0	1	3	1	3	3	3	2	1	3	3	3	0			TCGA-G9-6362-01A-11D-1786-08	TCGA-G9-6362-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a3aeec-d8b4-49fe-bf4a-8727ce1d8c06	365931c6-7328-42e9-919f-3b96847af1cc	g.chr11:132180059G>T	ENST00000374786.1	+	5	1194	c.715G>T	c.(715-717)Ggg>Tgg	p.G239W	NTM_ENST00000374791.3_Missense_Mutation_p.G239W|NTM_ENST00000374784.1_Missense_Mutation_p.G239W|NTM_ENST00000539799.1_Missense_Mutation_p.G239W|NTM_ENST00000427481.2_Missense_Mutation_p.G230W|NTM_ENST00000474900.1_3'UTR|NTM_ENST00000425719.2_Missense_Mutation_p.G239W	NM_001144058.1|NM_016522.2	NP_001137530.1|NP_057606.1	Q9P121	NTRI_HUMAN	neurotrimin	239	Ig-like C2-type 3.				cell adhesion (GO:0007155)|neuron recognition (GO:0008038)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)		p.G239W(2)		breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(9)|lung(30)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	56						GGGACAAAAGGGGACACTGCA	0.498																																						ENST00000374786.1																			2	Substitution - Missense(2)	p.G239W(2)	prostate(2)	breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(9)|lung(30)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	56						c.(715-717)Ggg>Tgg		neurotrimin							151	149	150					11																	132180059		2201	4297	6498	SO:0001583	missense	50863				cell adhesion|neuron recognition	anchored to membrane|plasma membrane		g.chr11:132180059G>T	AF126426	CCDS8491.1, CCDS41733.1, CCDS44777.1, CCDS44778.1	11q25	2013-01-11			ENSG00000182667	ENSG00000182667		"Immunoglobulin superfamily / I-set domain containing"	17941	protein-coding gene	gene with protein product	"neurotrimin", "IgLON family member 2"	607938				7891157	Standard	NM_001048209		Approved	HNT, NTRI, IGLON2	uc001qgq.3	Q9P121	OTTHUMG00000066364	ENST00000374786.1:c.715G>T	11.37:g.132180059G>T	ENSP00000363918:p.Gly239Trp					NTM_ENST00000374791.3_Missense_Mutation_p.G239W|NTM_ENST00000539799.1_Missense_Mutation_p.G239W|NTM_ENST00000474900.1_3'UTR|NTM_ENST00000374784.1_Missense_Mutation_p.G239W|NTM_ENST00000427481.2_Missense_Mutation_p.G230W|NTM_ENST00000425719.2_Missense_Mutation_p.G239W	p.G239W	NM_001144058.1|NM_016522.2	NP_001137530.1|NP_057606.1	Q9P121	NTRI_HUMAN			5	1194	+			239			Ig-like C2-type 3.		A0MTT2|Q6UXJ3|Q86VJ9	Missense_Mutation	SNP	ENST00000374786.1	37	c.715G>T	CCDS8491.1	.	.	.	.	.	.	.	.	.	.	G	27.8	4.862935	0.91511	.	.	ENSG00000182667	ENST00000374791;ENST00000539799;ENST00000427481;ENST00000374786;ENST00000425719;ENST00000374784	T;T;T;T;T;T	0.72282	-0.64;-0.64;-0.64;-0.64;-0.64;-0.64	6.07	6.07	0.98685	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);	0.000000	0.85682	D	0.000000	D	0.86986	0.6065	M	0.85542	2.76	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.87578	0.998;0.998;0.997;0.992;0.996;0.995	D	0.87298	0.2303	10	0.72032	D	0.01	-22.5364	20.6439	0.99570	0.0:0.0:1.0:0.0	.	239;230;239;239;239;239	B7Z1Z5;B7Z1I4;Q9P121-4;Q9P121;Q9P121-3;Q9P121-2	.;.;.;NTRI_HUMAN;.;.	W	239;239;230;239;239;239	ENSP00000363923:G239W;ENSP00000437668:G239W;ENSP00000416320:G230W;ENSP00000363918:G239W;ENSP00000396722:G239W;ENSP00000363916:G239W	ENSP00000363916:G239W	G	+	1	0	NTM	131685269	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.420000	0.97426	2.884000	0.98904	0.655000	0.94253	GGG		0.498	NTM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000141937.1	NM_016522		18	169	1	0	5.35267e-07	0.043863	5.78088e-07	18	169					T	132180059	G	T	132180059	3	4	163	1	0	0	0	0	1	0	0	0	10699	1232	43	5	819	5	NTM	11	132180059	Missense_Mutation	SNP	G	TCGA-G9-6362-01A-11D-1786-08	8368925	132180059	2826457	39	7858											
C12orf35	55196	broad.mit.edu	37	chr12	32134717	32134717	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccacgcaaactgacaaaagAcctcctcctcctccttacaa	13	7	4	17	1	0	2	0	1	0	1	4	2	4	2	6	0	2	1	6	0	5	1	rs550353898	byFrequency	TCGA-G9-6362-01A-11D-1786-08	TCGA-G9-6362-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a3aeec-d8b4-49fe-bf4a-8727ce1d8c06	365931c6-7328-42e9-919f-3b96847af1cc	g.chr12:32134717A>G	ENST00000312561.4	+	4	1242	c.828A>G	c.(826-828)agA>agG	p.R276R	KIAA1551_ENST00000535596.1_Intron	NM_018169.3	NP_060639	Q9HCM1	K1551_HUMAN	KIAA1551	276								p.R276R(1)									CTGACAAAAGACCTCCTCCTC	0.418																																						ENST00000312561.4																			1	Substitution - coding silent(1)	p.R276R(1)	prostate(1)								c.(826-828)agA>agG		KIAA1551							95	93	94					12																	32134717		2203	4300	6503	SO:0001819	synonymous_variant	55196							g.chr12:32134717A>G	AK001514	CCDS8725.2	12p11.21	2012-08-14	2012-08-14	2012-08-14	ENSG00000174718	ENSG00000174718			25559	protein-coding gene	gene with protein product			"chromosome 12 open reading frame 35"	C12orf35		10997877	Standard	NM_018169		Approved	FLJ20696, FLJ10652	uc001rks.3	Q9HCM1	OTTHUMG00000128501	ENST00000312561.4:c.828A>G	12.37:g.32134717A>G						KIAA1551_ENST00000535596.1_Intron	p.R276R	NM_018169.3	NP_060639.3					4	1242	+								B2RTU5|Q4KN17|Q9NVL6|Q9NWP9	Silent	SNP	ENST00000312561.4	37	c.828A>G	CCDS8725.2																																																																																				0.418	KIAA1551-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250307.2	NM_018169		5	94	0	0	0	0.014758	0	5	94					G	32134717	A	G	32134717	2	3	163	1	0	0	0	0	0	0	0	1	1682	272	10	4		4	C12orf35	12	32134717	Silent	SNP	A	TCGA-G9-6362-01A-11D-1786-08		32134717	101717178	40	7859											
SLC24A6	80024	broad.mit.edu	37	chr12	113748108	113748108	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagccaaggctgtgcctgcGatcaccaccacgacccagac	11	4	10	16	2	1	1	1	0	0	1	1	4	1	1	5	1	3	1	5	1	2	0	rs138371135		TCGA-G9-6362-01A-11D-1786-08	TCGA-G9-6362-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a3aeec-d8b4-49fe-bf4a-8727ce1d8c06	365931c6-7328-42e9-919f-3b96847af1cc	g.chr12:113748108G>T	ENST00000552014.1	-	13	1703	c.1188C>A	c.(1186-1188)atC>atA	p.I396I	SLC8B1_ENST00000202831.3_Silent_p.I396I|SLC8B1_ENST00000553238.1_5'UTR|SLC8B1_ENST00000546737.1_Silent_p.I340I|SLC8B1_ENST00000550047.1_5'Flank			Q6J4K2	NCKX6_HUMAN	solute carrier family 8 (sodium/lithium/calcium exchanger), member B1	396					cytosolic calcium ion homeostasis (GO:0051480)|glucose homeostasis (GO:0042593)|ion transport (GO:0006811)|mitochondrial calcium ion homeostasis (GO:0051560)|mitochondrial calcium ion transport (GO:0006851)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of insulin secretion (GO:0050796)|response to stimulus (GO:0050896)|transmembrane transport (GO:0055085)	integral component of mitochondrial membrane (GO:0032592)|mitochondrial crista (GO:0030061)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)	calcium:sodium antiporter activity (GO:0005432)|calcium:sodium antiporter activity involved in regulation of cardiac muscle cell membrane potential (GO:0086038)|protein homodimerization activity (GO:0042803)	p.I396I(1)									CTGTGCCTGCGATCACCACCA	0.587																																						ENST00000552014.1																			1	Substitution - coding silent(1)	p.I396I(1)	prostate(1)	breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(3)|skin(1)	16						c.(1186-1188)atC>atA									98	86	90					12																	113748108		2203	4300	6503	SO:0001819	synonymous_variant	0				response to stimulus|sodium ion transport	integral to membrane|plasma membrane	calcium:cation antiporter activity	g.chr12:113748108G>T	AK025886	CCDS31909.1	12q24.13	2013-07-19	2013-07-19	2013-07-19	ENSG00000089060	ENSG00000089060		"Solute carriers"	26175	protein-coding gene	gene with protein product		609841	"solute carrier family 24 (sodium/potassium/calcium exchanger), member 6", "solute carrier family 24 (sodium/lithium/calcium exchanger), member 6"	SLC24A6		14625281, 23506867	Standard	NM_024959		Approved	FLJ22233, NCKX6, NCLX	uc001tvc.3	Q6J4K2	OTTHUMG00000169566	ENST00000552014.1:c.1188C>A	12.37:g.113748108G>T						SLC24A6_ENST00000202831.3_Silent_p.I396I|SLC24A6_ENST00000553238.1_5'UTR|SLC24A6_ENST00000546737.1_Silent_p.I340I	p.I396I			Q6J4K2	NCKX6_HUMAN			13	1703	-			396					A6NP50|Q4KMS9|Q6J4K1|Q9H6I8	Silent	SNP	ENST00000552014.1	37	c.1188C>A	CCDS31909.1																																																																																				0.587	SLC8B1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404830.3	NM_024959		50	56	1	0	3.4597e-24	0.048971	3.94698e-24	50	56					T	113748108	G	T	113748108	2	4	163	1	0	0	0	0	0	0	0	1	14470	1048	37	5		5	SLC24A6	12	113748108	Silent	SNP	G	TCGA-G9-6362-01A-11D-1786-08	81613391	113748108	20103787	41	7860											
ZIC2	7546	broad.mit.edu	37	chr13	100635173	100635173	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accatgcacgagctggtgacAcacgtctcggtggagcacgt	9	7	13	12	4	1	1	0	1	1	0	2	3	1	2	1	3	3	3	1	3	0	0			TCGA-G9-6362-01A-11D-1786-08	TCGA-G9-6362-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a3aeec-d8b4-49fe-bf4a-8727ce1d8c06	365931c6-7328-42e9-919f-3b96847af1cc	g.chr13:100635173A>G	ENST00000376335.3	+	1	1148	c.855A>G	c.(853-855)acA>acG	p.T285T		NM_007129.3	NP_009060.2	O95409	ZIC2_HUMAN	Zic family member 2	285					brain development (GO:0007420)|developmental pigmentation (GO:0048066)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription, DNA-templated (GO:0045893)|retinal ganglion cell axon guidance (GO:0031290)|transcription, DNA-templated (GO:0006351)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.T285T(1)		large_intestine(2)|liver(2)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					AGCTGGTGACACACGTCTCGG	0.582																																					Pancreas(97;119 1522 31925 44771 48764)	ENST00000376335.3																			1	Substitution - coding silent(1)	p.T285T(1)	prostate(1)	large_intestine(2)|liver(2)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						c.(853-855)acA>acG		Zic family member 2							126	122	124					13																	100635173		2203	4300	6503	SO:0001819	synonymous_variant	7546				brain development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|visual perception	cytoplasm|nucleus	chromatin DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr13:100635173A>G	AF104902	CCDS9495.1	13q32	2013-01-08	2011-05-19		ENSG00000043355	ENSG00000043355		"Zinc fingers, C2H2-type"	12873	protein-coding gene	gene with protein product	"Zinc finger protein of the cerebellum 2"	603073	"Zic family member 2 (odd-paired Drosophila homolog)", "Zic family member 2 (odd-paired homolog, Drosophila)"			9771712	Standard	NM_007129		Approved	HPE5	uc001von.3	O95409	OTTHUMG00000017279	ENST00000376335.3:c.855A>G	13.37:g.100635173A>G							p.T285T	NM_007129.3	NP_009060.2	O95409	ZIC2_HUMAN			1	1148	+	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		285					Q5VYA9|Q9H309	Silent	SNP	ENST00000376335.3	37	c.855A>G	CCDS9495.1																																																																																				0.582	ZIC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045618.2	NM_007129		53	71	0	0	0	0.048971	0	53	71					G	100635173	A	G	100635173	2	3	163	1	0	0	0	0	0	0	0	1	17676	146	6	4		4	ZIC2	13	100635173	Silent	SNP	A	TCGA-G9-6362-01A-11D-1786-08		100635173	14534705	42	7861											
SLC10A2	6555	broad.mit.edu	37	chr13	103710721	103710721	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	caagcagtgtggagcatgtgGtcatgctgacgctgaaaggc	10	8	15	8	1	1	2	1	2	0	0	1	3	1	3	0	3	3	4	0	3	2	0	rs201341384		TCGA-G9-6362-01A-11D-1786-08	TCGA-G9-6362-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a3aeec-d8b4-49fe-bf4a-8727ce1d8c06	365931c6-7328-42e9-919f-3b96847af1cc	g.chr13:103710721G>T	ENST00000245312.3	-	2	985	c.389C>A	c.(388-390)aCc>aAc	p.T130N		NM_000452.2	NP_000443	Q12908	NTCP2_HUMAN	solute carrier family 10 (sodium/bile acid cotransporter), member 2	130					bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|integral component of plasma membrane (GO:0005887)|microvillus (GO:0005902)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|proteasome complex (GO:0000502)	bile acid:sodium symporter activity (GO:0008508)	p.T130N(1)		breast(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_neural(89;0.0662)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)				Aciclovir(DB00787)|Cyclosporine(DB00091)|Ursodeoxycholic acid(DB01586)|Valaciclovir(DB00577)	GGAGCATGTGGTCATGCTGAC	0.433																																						ENST00000245312.3																			1	Substitution - Missense(1)	p.T130N(1)	prostate(1)	breast(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						c.(388-390)aCc>aAc		solute carrier family 10 (sodium/bile acid cotransporter), member 2							106	89	95					13																	103710721		2203	4300	6503	SO:0001583	missense	6555				bile acid metabolic process|organic anion transport	integral to plasma membrane	bile acid:sodium symporter activity	g.chr13:103710721G>T	U10417	CCDS9506.1	13q33	2013-07-18	2013-07-18		ENSG00000125255	ENSG00000125255		"Solute carriers"	10906	protein-coding gene	gene with protein product		601295		ASBT, ISBT		8661017	Standard	NM_000452		Approved		uc001vpy.4	Q12908	OTTHUMG00000017313	ENST00000245312.3:c.389C>A	13.37:g.103710721G>T	ENSP00000245312:p.Thr130Asn						p.T130N	NM_000452.2	NP_000443.1	Q12908	NTCP2_HUMAN			2	985	-	all_neural(89;0.0662)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)		130					A1L4F4|Q13839	Missense_Mutation	SNP	ENST00000245312.3	37	c.389C>A	CCDS9506.1	.	.	.	.	.	.	.	.	.	.	G	31	5.061977	0.93846	.	.	ENSG00000125255	ENST00000245312	T	0.16324	2.35	5.74	5.74	0.90152	.	0.000000	0.85682	D	0.000000	T	0.62060	0.2397	H	0.98295	4.195	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.77059	-0.2728	10	0.87932	D	0	-28.2764	18.4783	0.90800	0.0:0.0:1.0:0.0	.	130	Q12908	NTCP2_HUMAN	N	130	ENSP00000245312:T130N	ENSP00000245312:T130N	T	-	2	0	SLC10A2	102508722	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	9.640000	0.98453	2.873000	0.98535	0.563000	0.77884	ACC		0.433	SLC10A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045716.1			5	51	1	0	1.23904e-05	0.014758	1.30341e-05	5	51					T	103710721	G	T	103710721	3	4	163	1	0	0	0	0	1	0	0	0	14374	1261	44	5	677	5	SLC10A2	13	103710721	Missense_Mutation	SNP	G	TCGA-G9-6362-01A-11D-1786-08	3075548	103710721	11459157	43	7862											
COQ6	51004	broad.mit.edu	37	chr14	74426130	74426130	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgacacagctctcagacaccTtgagttccttggtttggtcc	7	13	9	12	0	1	3	1	2	1	1	4	3	3	3	3	2	1	3	3	2	0	4	rs113814754		TCGA-G9-6362-01A-11D-1786-08	TCGA-G9-6362-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a3aeec-d8b4-49fe-bf4a-8727ce1d8c06	365931c6-7328-42e9-919f-3b96847af1cc	g.chr14:74426130T>C	ENST00000334571.2	+	8	836	c.796T>C	c.(796-798)Ttg>Ctg	p.L266L	ENTPD5_ENST00000557325.1_3'UTR|COQ6_ENST00000394026.4_Silent_p.L241L|COQ6_ENST00000238709.4_Silent_p.L191L|COQ6_ENST00000554920.1_Intron	NM_182476.2	NP_872282.1	Q9Y2Z9	COQ6_HUMAN	coenzyme Q6 monooxygenase	266					small molecule metabolic process (GO:0044281)|ubiquinone biosynthetic process (GO:0006744)	cell projection (GO:0042995)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)	flavin adenine dinucleotide binding (GO:0050660)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen (GO:0016709)	p.L266L(1)		breast(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	16				BRCA - Breast invasive adenocarcinoma(234;0.00337)		CTCAGACACCTTGAGTTCCTT	0.448																																						ENST00000334571.2																			1	Substitution - coding silent(1)	p.L266L(1)	prostate(1)	breast(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	16						c.(796-798)Ttg>Ctg		coenzyme Q6 monooxygenase							244	210	222					14																	74426130		2203	4300	6503	SO:0001819	synonymous_variant	51004				ubiquinone biosynthetic process	mitochondrion	flavin adenine dinucleotide binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NADH or NADPH as one donor, and incorporation of one atom of oxygen	g.chr14:74426130T>C	AF132944	CCDS9823.1, CCDS9824.1, CCDS9824.2	14q24.1	2013-05-01	2013-05-01		ENSG00000119723	ENSG00000119723			20233	protein-coding gene	gene with protein product		614647	"coenzyme Q6 homolog (yeast)", "coenzyme Q6 homolog, monooxygenase (yeast)", "coenzyme Q6 homolog, monooxygenase (S. cerevisiae)"			21540551	Standard	NM_182476		Approved	CGI-10	uc001xph.3	Q9Y2Z9	OTTHUMG00000171260	ENST00000334571.2:c.796T>C	14.37:g.74426130T>C						COQ6_ENST00000394026.4_Silent_p.L241L|COQ6_ENST00000554920.1_Intron|COQ6_ENST00000238709.4_Silent_p.L191L|ENTPD5_ENST00000557325.1_3'UTR	p.L266L	NM_182476.2	NP_872282.1	Q9Y2Z9	COQ6_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00337)	8	836	+			266					B7Z3K8|Q53GG6|Q86U30|Q96CA1|Q96CK2	Silent	SNP	ENST00000334571.2	37	c.796T>C	CCDS9823.1	.	.	.	.	.	.	.	.	.	.	T	8.566	0.878893	0.17395	.	.	ENSG00000119723	ENST00000557584	.	.	.	5.55	-4.31	0.03698	.	0.841724	0.11086	N	0.601332	T	0.16428	0.0395	.	.	.	0.20764	N	0.999858	B	0.02656	0.0	B	0.04013	0.001	T	0.22068	-1.0227	7	.	.	.	-1.7138	4.4024	0.11393	0.0919:0.3934:0.1268:0.3878	.	274	B7Z8E9	.	P	274	.	.	L	+	2	0	COQ6	73495883	0.002000	0.14202	0.841000	0.33234	0.995000	0.86356	-0.388000	0.07352	-0.994000	0.03463	0.533000	0.62120	CTT		0.448	COQ6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412616.1			52	78	0	0	0	0.048971	0	52	78					C	74426130	T	C	74426130	2	2	163	1	0	0	0	0	0	0	0	1	3749	1606	56	4		4	COQ6	14	74426130	Silent	SNP	T	TCGA-G9-6362-01A-11D-1786-08		74426130	32923410	44	7863											
BTBD12	84464	broad.mit.edu	37	chr16	3640329	3640329	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tctgcactccagcacggaccGacgctctttgcctttctggt	5	12	9	15	3	3	0	0	0	3	0	4	2	4	1	3	2	3	3	3	2	0	2			TCGA-G9-6362-01A-11D-1786-08	TCGA-G9-6362-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a3aeec-d8b4-49fe-bf4a-8727ce1d8c06	365931c6-7328-42e9-919f-3b96847af1cc	g.chr16:3640329G>A	ENST00000294008.3	-	12	3950	c.3310C>T	c.(3310-3312)Cgg>Tgg	p.R1104W		NM_032444.2	NP_115820.2	Q8IY92	SLX4_HUMAN	SLX4 structure-specific endonuclease subunit	1104	Interaction with PLK1 and TERF2-TERF2IP.				DNA catabolic process, endonucleolytic (GO:0000737)|DNA double-strand break processing involved in repair via single-strand annealing (GO:0010792)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|double-strand break repair via homologous recombination (GO:0000724)|nucleotide-excision repair (GO:0006289)|positive regulation of catalytic activity (GO:0043085)|response to intra-S DNA damage checkpoint signaling (GO:0072429)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|Slx1-Slx4 complex (GO:0033557)	5'-flap endonuclease activity (GO:0017108)|enzyme activator activity (GO:0008047)	p.R1104R(1)|p.R1104W(1)		breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	76						AGCACGGACCGACGCTCTTTG	0.532								Direct reversal of damage																														ENST00000294008.3																			2	Substitution - Missense(1)|Substitution - coding silent(1)	p.R1104R(1)|p.R1104W(1)	prostate(1)|endometrium(1)	breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	76						c.(3310-3312)Cgg>Tgg	Direct reversal of damage	SLX4 structure-specific endonuclease subunit							115	110	112					16																	3640329		2197	4300	6497	SO:0001583	missense	84464				DNA double-strand break processing involved in repair via single-strand annealing|double-strand break repair via homologous recombination|nucleotide-excision repair	Slx1-Slx4 complex	enzyme activator activity|protein binding	g.chr16:3640329G>A	AB058687	CCDS10506.2	16p13.3	2014-09-17	2013-06-05	2010-09-13	ENSG00000188827	ENSG00000188827		"Fanconi anemia, complementation groups", "BTB/POZ domain containing"	23845	protein-coding gene	gene with protein product	"Fanconi anemia, complementation group P"	613278	"BTB (POZ) domain containing 12", "SLX4 structure-specific endonuclease subunit homolog (S. cerevisiae)"	BTBD12		11347906, 19595721	Standard	NM_032444		Approved	KIAA1784, KIAA1987, FANCP	uc002cvp.2	Q8IY92	OTTHUMG00000074089	ENST00000294008.3:c.3310C>T	16.37:g.3640329G>A	ENSP00000294008:p.Arg1104Trp						p.R1104W	NM_032444.2	NP_115820.2	Q8IY92	SLX4_HUMAN			12	3950	-			1104			Interaction with PLK1 and TERF2-TERF2IP.		Q69YT8|Q8TF15|Q96JP1	Missense_Mutation	SNP	ENST00000294008.3	37	c.3310C>T	CCDS10506.2	.	.	.	.	.	.	.	.	.	.	G	14.68	2.608463	0.46527	.	.	ENSG00000188827	ENST00000294008	T	0.18960	2.18	5.59	-6.26	0.02033	.	0.978990	0.08383	N	0.954247	T	0.07413	0.0187	N	0.08118	0	0.09310	N	1	D	0.54047	0.964	B	0.36766	0.232	T	0.34850	-0.9812	10	0.56958	D	0.05	.	7.7788	0.29054	0.0:0.4672:0.2201:0.3126	.	1104	Q8IY92	SLX4_HUMAN	W	1104	ENSP00000294008:R1104W	ENSP00000294008:R1104W	R	-	1	2	SLX4	3580330	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-1.383000	0.02544	-1.032000	0.03304	-0.262000	0.10625	CGG		0.532	SLX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157301.3	NM_032444		5	137	0	0	0	0.021553	0	5	137					A	3640329	G	A	3640329	3	1	163	1	0	0	0	0	1	0	0	0	1540	1057	37	2	2210	2	BTBD12	16	3640329	Missense_Mutation	SNP	G	TCGA-G9-6362-01A-11D-1786-08		3640329	86714424	45	7864											
ABCC11	85320	broad.mit.edu	37	chr16	48258247	48258247	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cccagaagtgcatcgaaaatCaaccttgttctctggaacct	12	10	7	12	1	2	1	1	0	1	1	4	3	2	2	3	1	3	2	3	1	5	2			TCGA-G9-6362-01A-11D-1786-08	TCGA-G9-6362-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a3aeec-d8b4-49fe-bf4a-8727ce1d8c06	365931c6-7328-42e9-919f-3b96847af1cc	g.chr16:48258247C>G	ENST00000394747.1	-	4	838	c.489G>C	c.(487-489)ttG>ttC	p.L163F	ABCC11_ENST00000356608.2_Missense_Mutation_p.L163F|ABCC11_ENST00000353782.5_Missense_Mutation_p.L163F|ABCC11_ENST00000394748.1_Missense_Mutation_p.L163F|ABCC11_ENST00000537808.1_Missense_Mutation_p.L163F	NM_033151.3	NP_149163.2	Q96J66	ABCCB_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 11	163	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				organic anion transport (GO:0015711)|purine nucleotide transport (GO:0015865)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)|purine nucleotide transmembrane transporter activity (GO:0015216)	p.L163F(2)		breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2)	83		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)			Conjugated Estrogens(DB00286)|Folic Acid(DB00158)|Indomethacin(DB00328)|Methotrexate(DB00563)|Probenecid(DB01032)	CATCGAAAATCAACCTTGTTC	0.507																																						ENST00000394747.1																			2	Substitution - Missense(2)	p.L163F(2)	large_intestine(1)|prostate(1)	breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2)	83						c.(487-489)ttG>ttC		ATP-binding cassette, sub-family C (CFTR/MRP), member 11							125	104	111					16																	48258247		2200	4300	6500	SO:0001583	missense	85320					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr16:48258247C>G	AF367202	CCDS10732.1, CCDS10733.1	16q12	2012-03-14			ENSG00000121270	ENSG00000121270		"ATP binding cassette transporters / subfamily C"	14639	protein-coding gene	gene with protein product		607040				11483364, 11435397	Standard	NM_033151		Approved	MRP8	uc002efg.1	Q96J66	OTTHUMG00000133146	ENST00000394747.1:c.489G>C	16.37:g.48258247C>G	ENSP00000378230:p.Leu163Phe					ABCC11_ENST00000537808.1_Missense_Mutation_p.L163F|ABCC11_ENST00000356608.2_Missense_Mutation_p.L163F|ABCC11_ENST00000394748.1_Missense_Mutation_p.L163F|ABCC11_ENST00000353782.5_Missense_Mutation_p.L163F	p.L163F	NM_033151.3	NP_149163.2	Q96J66	ABCCB_HUMAN			4	838	-		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)	163			ABC transmembrane type-1 1.		Q8TDJ0|Q96JA6|Q9BX80	Missense_Mutation	SNP	ENST00000394747.1	37	c.489G>C	CCDS10732.1	.	.	.	.	.	.	.	.	.	.	C	9.728	1.161510	0.21538	.	.	ENSG00000121270	ENST00000353782;ENST00000356608;ENST00000394748;ENST00000394747;ENST00000537808	T;T;T;T;T	0.58797	0.31;0.31;0.31;0.31;0.31	4.39	0.942	0.19525	ABC transporter, transmembrane domain, type 1 (1);	0.932371	0.09020	N	0.860290	T	0.32704	0.0838	N	0.11560	0.145	0.09310	N	1	B;B	0.06786	0.0;0.001	B;B	0.09377	0.0;0.004	T	0.16689	-1.0394	10	0.05620	T	0.96	0.3991	10.222	0.43203	0.7573:0.2427:0.0:0.0	.	163;163	Q96J66-2;Q96J66	.;ABCCB_HUMAN	F	163	ENSP00000311326:L163F;ENSP00000349017:L163F;ENSP00000378231:L163F;ENSP00000378230:L163F;ENSP00000438530:L163F	ENSP00000311326:L163F	L	-	3	2	ABCC11	46815748	0.000000	0.05858	0.000000	0.03702	0.147000	0.21601	0.308000	0.19314	-0.051000	0.13334	0.460000	0.39030	TTG		0.507	ABCC11-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000429984.1	NM_032583		8	25	0	0	0	0.038147	0	8	25					G	48258247	C	G	48258247	3	3	163	1	0	0	0	0	1	0	0	0	51	825	29	5	3763	5	ABCC11	16	48258247	Missense_Mutation	SNP	C	TCGA-G9-6362-01A-11D-1786-08	44617918	48258247	42096506	46	7865											
ACCN1	40	broad.mit.edu	37	chr17	32483118	32483118	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaactgcttgggtttgtagTgcttgaagttggccttctgc	5	16	13	7	0	1	2	0	2	1	0	1	2	1	2	1	2	4	5	1	2	3	6			TCGA-G9-6362-01A-11D-1786-08	TCGA-G9-6362-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a3aeec-d8b4-49fe-bf4a-8727ce1d8c06	365931c6-7328-42e9-919f-3b96847af1cc	g.chr17:32483118T>G	ENST00000359872.6	-	1	1195	c.434A>C	c.(433-435)cAc>cCc	p.H145P		NM_001094.4	NP_001085.2	Q16515	ASIC2_HUMAN	acid-sensing (proton-gated) ion channel 2	145					central nervous system development (GO:0007417)|detection of mechanical stimulus involved in sensory perception (GO:0050974)|ion transmembrane transport (GO:0034220)|monovalent inorganic cation transport (GO:0015672)|negative regulation of apoptotic process (GO:0043066)|peripheral nervous system development (GO:0007422)|phototransduction (GO:0007602)|positive regulation of synapse assembly (GO:0051965)|protein localization to synapse (GO:0035418)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)|regulation of membrane potential (GO:0042391)|regulation of systemic arterial blood pressure by aortic arch baroreceptor feedback (GO:0003026)|regulation of vasoconstriction (GO:0019229)|response to acid chemical (GO:0001101)|response to acidic pH (GO:0010447)|sensory perception of sound (GO:0007605)|sensory perception of sour taste (GO:0050915)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|synapse (GO:0045202)	ion gated channel activity (GO:0022839)|ligand-gated sodium channel activity (GO:0015280)|voltage-gated sodium channel activity (GO:0005248)	p.H145P(1)								Amiloride(DB00594)	GGGTTTGTAGTGCTTGAAGTT	0.592																																						ENST00000359872.6																			1	Substitution - Missense(1)	p.H145P(1)	prostate(1)								c.(433-435)cAc>cCc		acid-sensing (proton-gated) ion channel 2	Amiloride(DB00594)						99	106	104					17																	32483118		2134	4258	6392	SO:0001583	missense	40				central nervous system development|peripheral nervous system development|synaptic transmission	integral to plasma membrane	ligand-gated sodium channel activity|protein binding	g.chr17:32483118T>G	AL834182	CCDS11276.1, CCDS42296.1	17q11.2-q12	2012-02-23	2012-02-22	2012-02-22	ENSG00000108684	ENSG00000108684		"Ion channels / Acid-sensing (proton-gated) ion channels"	99	protein-coding gene	gene with protein product	"degenerin"	601784	"amiloride-sensitive cation channel 1, neuronal"	ACCN, ACCN1		8921408	Standard	NM_183377		Approved	ASIC2a, BNC1, BNaC1, hBNaC1, MDEG	uc002hhu.3	Q16515	OTTHUMG00000132885	ENST00000359872.6:c.434A>C	17.37:g.32483118T>G	ENSP00000352934:p.His145Pro						p.H145P	NM_001094.4	NP_001085.2	Q16515	ACCN1_HUMAN			1	1195	-			145					E9PBX2|Q13553|Q6DJU1|Q8N3E2	Missense_Mutation	SNP	ENST00000359872.6	37	c.434A>C	CCDS42296.1	.	.	.	.	.	.	.	.	.	.	T	8.730	0.916408	0.17907	.	.	ENSG00000108684	ENST00000359872	T	0.62788	0.0	4.96	4.96	0.65561	.	.	.	.	.	T	0.43765	0.1262	N	0.16903	0.455	0.25616	N	0.986448	B	0.02656	0.0	B	0.08055	0.003	T	0.20140	-1.0284	9	0.31617	T	0.26	.	8.0485	0.30564	0.1806:0.0:0.0:0.8194	.	145	Q16515	ACCN1_HUMAN	P	145	ENSP00000352934:H145P	ENSP00000352934:H145P	H	-	2	0	ACCN1	29507231	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.204000	0.51082	2.069000	0.61940	0.533000	0.62120	CAC		0.592	ASIC2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447552.1	NM_183377, NM_001094		16	132	0	0	0	0.0333	0	16	132					G	32483118	T	G	32483118	3	3	163	1	0	0	0	0	1	0	0	0	128	1696	59	5	1856	5	ACCN1	17	32483118	Missense_Mutation	SNP	T	TCGA-G9-6362-01A-11D-1786-08		32483118	48712092	47	7866											
RDM1	201299	broad.mit.edu	37	chr17	34249537	34249537	+	Intron	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttcaaaatgagtttatttgcTtactgaaactgaagtacttc	13	16	6	6	0	1	3	1	3	0	0	2	3	1	3	0	0	4	3	0	0	7	7			TCGA-G9-6362-01A-11D-1786-08	TCGA-G9-6362-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a3aeec-d8b4-49fe-bf4a-8727ce1d8c06	365931c6-7328-42e9-919f-3b96847af1cc	g.chr17:34249537T>G	ENST00000293273.6	-	5	713				RDM1_ENST00000394528.3_Nonstop_Mutation_p.*237Y|RDM1_ENST00000425909.3_Intron|RDM1_ENST00000394529.3_Intron|RDM1_ENST00000591402.1_Intron|RDM1_ENST00000394527.1_3'UTR|RDM1_ENST00000431884.2_Intron|RDM1_ENST00000419453.2_Intron|RDM1_ENST00000430160.2_Nonstop_Mutation_p.*214Y	NM_145654.3	NP_663629.1	Q8NG50	RDM1_HUMAN	RAD52 motif containing 1						DNA recombination (GO:0006310)|DNA repair (GO:0006281)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)	DNA binding (GO:0003677)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)	p.*237Y(1)		breast(1)|kidney(3)|large_intestine(2)|ovary(1)|skin(1)|stomach(1)	9		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		GTTTATTTGCTTACTGAAACT	0.318								Other identified genes with known or suspected DNA repair function																														ENST00000430160.2																			1	Nonstop extension(1)	p.*237Y(1)	prostate(1)	breast(1)|kidney(3)|large_intestine(2)|ovary(1)|skin(1)|stomach(1)	9						c.(640-642)taA>taC	Other identified genes with known or suspected DNA repair function	RAD52 motif 1							89	91	90					17																	34249537		2203	4300	6503	SO:0001627	intron_variant	201299				DNA recombination|DNA repair	Cajal body|cytoplasm|nucleolus|PML body	DNA binding|nucleotide binding|RNA binding	g.chr17:34249537T>G	AB080728	CCDS11301.1, CCDS42299.1, CCDS54111.1, CCDS54108.1, CCDS54109.1, CCDS54110.1, CCDS59280.1, CCDS59281.1	17q11.2	2014-04-10	2014-04-10	2005-10-20	ENSG00000187456	ENSG00000278023		"RNA binding motif (RRM) containing"	19950	protein-coding gene	gene with protein product		612896	"RAD52 homolog B (S. cerevisiae)", "RAD52 motif 1"	RAD52B		15611051	Standard	NM_001163120		Approved	MGC33977	uc002hkh.3	Q8NG50	OTTHUMG00000188399	ENST00000293273.6:c.667+43A>C	17.37:g.34249537T>G						RDM1_ENST00000425909.3_Intron|RDM1_ENST00000431884.2_Intron|RDM1_ENST00000394528.3_Nonstop_Mutation_p.*237Y|RDM1_ENST00000591402.1_Intron|RDM1_ENST00000419453.2_Intron|RDM1_ENST00000394529.3_Intron|RDM1_ENST00000394527.1_3'UTR|RDM1_ENST00000293273.6_Intron	p.*214Y			Q8NG50	RDM1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)	4	1112	-		Ovarian(249;0.17)	0					A0JP55|A8MV46|A8MY68|A8MZ92|A8RCS5|A8RCT0|A8RCT5|A8RCT8|A8RCU3|A8RCU8|A8RCW0|A8RCW5	Nonstop_Mutation	SNP	ENST00000293273.6	37	c.642A>C	CCDS11301.1	.	.	.	.	.	.	.	.	.	.	T	1.918	-0.449017	0.04572	.	.	ENSG00000187456	ENST00000430160;ENST00000394528	.	.	.	3.36	1.11	0.20524	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.6144	0.22769	0.0:0.2416:0.0:0.7584	.	.	.	.	Y	214;237	.	.	X	-	3	2	RDM1	31273650	0.029000	0.19370	0.001000	0.08648	0.001000	0.01503	-0.135000	0.10420	0.055000	0.16094	-1.811000	0.00612	TAA		0.318	RDM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256588.2	NM_145654		15	94	0	0	0	0.020292	0	15	94					G	34249537	T	G	34249537	1	3	163	0	1	0	0	0	0	0	0	0	13197	1616	56	5		5	RDM1	17	34249537	Intron	SNP	T	TCGA-G9-6362-01A-11D-1786-08	1766419	34249537	46945673	48	7867											
KRT15	3866	broad.mit.edu	37	chr17	39673185	39673185	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gccgttgatgtcagcctcaaCgccctggcgcagggccagct	6	7	13	15	3	2	1	2	1	0	0	2	1	2	1	4	2	3	3	4	2	1	1	rs138271368	byFrequency	TCGA-G9-6362-01A-11D-1786-08	TCGA-G9-6362-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a3aeec-d8b4-49fe-bf4a-8727ce1d8c06	365931c6-7328-42e9-919f-3b96847af1cc	g.chr17:39673185C>T	ENST00000254043.3	-	3	4198	c.613G>A	c.(613-615)Gtt>Att	p.V205I	KRT15_ENST00000393981.3_Missense_Mutation_p.V40I|KRT15_ENST00000393974.3_Missense_Mutation_p.V40I|KRT15_ENST00000393976.2_Missense_Mutation_p.V205I	NM_002275.3	NP_002266	P19012	K1C15_HUMAN	keratin 15	205	Coil 1B.|Rod.				epidermis development (GO:0008544)	extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	scaffold protein binding (GO:0097110)|structural constituent of cytoskeleton (GO:0005200)	p.V205I(3)		NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16		Breast(137;0.000286)				TCAGCCTCAACGCCCTGGCGC	0.612													C|||	2	0.000399361	0	0.0014	5008	,	,		19121	0.001		0	False		,,,				2504	0					ENST00000254043.3																			3	Substitution - Missense(3)	p.V205I(3)	prostate(1)|kidney(1)|central_nervous_system(1)	NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16						c.(613-615)Gtt>Att		keratin 15		C	ILE/VAL	1,4405	2.1+/-5.4	0,1,2202	75	75	75		613	2.7	1	17	dbSNP_134	75	0,8600		0,0,4300	yes	missense	KRT15	NM_002275.3	29	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	205/457	39673185	1,13005	2203	4300	6503	SO:0001583	missense	3866				epidermis development	intermediate filament	protein binding|structural constituent of cytoskeleton	g.chr17:39673185C>T		CCDS11398.1	17q21.2	2013-06-20			ENSG00000171346	ENSG00000171346		"-", "Intermediate filaments type I, keratins (acidic)"	6421	protein-coding gene	gene with protein product	"keratin-15, basic", "keratin-15, beta", "type I cytoskeletal 15", "cytokeratin 15"	148030				16831889	Standard	NM_002275		Approved	K15, CK15, K1CO	uc002hwy.3	P19012	OTTHUMG00000133435	ENST00000254043.3:c.613G>A	17.37:g.39673185C>T	ENSP00000254043:p.Val205Ile					KRT15_ENST00000393974.3_Missense_Mutation_p.V40I|KRT15_ENST00000393981.3_Missense_Mutation_p.V40I|KRT15_ENST00000393976.2_Missense_Mutation_p.V205I	p.V205I	NM_002275.3	NP_002266.2	P19012	K1C15_HUMAN			3	4198	-		Breast(137;0.000286)	205			Coil 1B.|Rod.		B3KQY1|B3KRA2|E0CX14|Q53XV8|Q9BUG4	Missense_Mutation	SNP	ENST00000254043.3	37	c.613G>A	CCDS11398.1	6	0.0027472527472527475	1	0.0020325203252032522	1	0.0027624309392265192	3	0.005244755244755245	1	0.0013192612137203166	C	18.69	3.678865	0.68042	2.27E-4	0.0	ENSG00000171346	ENST00000254043;ENST00000393974;ENST00000393976;ENST00000393981;ENST00000458290	D;D;D;D;D	0.89617	-2.54;-2.54;-2.54;-2.54;-2.54	4.86	2.74	0.32292	Filament (1);	0.000000	0.41823	D	0.000804	D	0.93288	0.7861	M	0.93150	3.385	0.47037	D	0.99929	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.997;0.997	D	0.93234	0.6620	10	0.87932	D	0	.	10.0097	0.41979	0.1362:0.7907:0.0:0.0731	.	40;205;205	A8MT21;B3KVF5;P19012	.;.;K1C15_HUMAN	I	205;40;205;40;40	ENSP00000254043:V205I;ENSP00000377544:V40I;ENSP00000377546:V205I;ENSP00000377550:V40I;ENSP00000409282:V40I	ENSP00000254043:V205I	V	-	1	0	KRT15	36926711	1.000000	0.71417	0.999000	0.59377	0.185000	0.23345	4.807000	0.62576	1.254000	0.44035	0.650000	0.86243	GTT		0.612	KRT15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257301.1	NM_002275		35	60	0	0	0	0.11126	0	35	60					T	39673185	C	T	39673185	3	4	163	1	0	0	0	0	1	0	0	0	8452	536	19	1	781	1	KRT15	17	39673185	Missense_Mutation	SNP	C	TCGA-G9-6362-01A-11D-1786-08	5423648	39673185	41522025	49	7868											
CBX8	57332	broad.mit.edu	37	chr17	77768836	77768836	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acaccacactgcaccaggtcCgagtcctgtcttcgggccag	8	7	10	16	2	1	0	0	0	1	0	4	1	3	0	5	2	1	1	5	2	0	1			TCGA-G9-6362-01A-11D-1786-08	TCGA-G9-6362-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a3aeec-d8b4-49fe-bf4a-8727ce1d8c06	365931c6-7328-42e9-919f-3b96847af1cc	g.chr17:77768836C>T	ENST00000269385.4	-	5	885	c.768G>A	c.(766-768)tcG>tcA	p.S256S	CBX8_ENST00000485449.1_5'Flank	NM_020649.2	NP_065700.1	Q9HC52	CBX8_HUMAN	chromobox homolog 8	256					histone ubiquitination (GO:0016574)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	heterochromatin (GO:0000792)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)	methylated histone binding (GO:0035064)|single-stranded RNA binding (GO:0003727)|ubiquitin-protein transferase activity (GO:0004842)	p.S256S(1)		breast(1)|central_nervous_system(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)	14			OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			GCACCAGGTCCGAGTCCTGTC	0.627																																						ENST00000269385.4																			1	Substitution - coding silent(1)	p.S256S(1)	prostate(1)	breast(1)|central_nervous_system(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)	14						c.(766-768)tcG>tcA		chromobox homolog 8							41	38	39					17																	77768836		2202	4300	6502	SO:0001819	synonymous_variant	57332				negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear chromatin|PcG protein complex	methylated histone residue binding	g.chr17:77768836C>T	AF174482	CCDS11765.1	17q25.3	2010-07-06	2010-06-24		ENSG00000141570	ENSG00000141570			15962	protein-coding gene	gene with protein product	"polycomb 3", "Pc class 3 homolog (Drosophila)"		"chromobox homolog 8 (Drosophila Pc class)"			10825164	Standard	NM_020649		Approved	RC1, HPC3, PC3	uc002jxd.2	Q9HC52	OTTHUMG00000150416	ENST00000269385.4:c.768G>A	17.37:g.77768836C>T							p.S256S	NM_020649.2	NP_065700.1	Q9HC52	CBX8_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)		5	885	-			256					Q96H39|Q9NR07	Silent	SNP	ENST00000269385.4	37	c.768G>A	CCDS11765.1																																																																																				0.627	CBX8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318011.1	NM_020649		7	11	0	0	0	0.038147	0	7	11					T	77768836	C	T	77768836	2	4	163	1	0	0	0	0	0	0	0	1	2724	661	23	2		2	CBX8	17	77768836	Silent	SNP	C	TCGA-G9-6362-01A-11D-1786-08	38095651	77768836	3426374	50	7869											
C17orf70	80233	broad.mit.edu	37	chr17	79518970	79518970	+	Frame_Shift_Del	DEL	G	G	-																															tcacctgctcctgcccgggtGgtccagcgacaggcagtaga																										TCGA-G9-6362-01A-11D-1786-08	TCGA-G9-6362-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a3aeec-d8b4-49fe-bf4a-8727ce1d8c06	365931c6-7328-42e9-919f-3b96847af1cc	g.chr17:79518970delG	ENST00000327787.8	-	2	320	c.274delC	c.(274-276)cacfs	p.H92fs	C17orf70_ENST00000537152.1_5'UTR			Q0VG06	FP100_HUMAN	chromosome 17 open reading frame 70	92					DNA repair (GO:0006281)	cytoplasm (GO:0005737)|Fanconi anaemia nuclear complex (GO:0043240)|intermediate filament cytoskeleton (GO:0045111)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|central_nervous_system(1)|endometrium(1)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	19	all_neural(118;0.0878)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0371)			CTGCCCGGGTGGTCCAGCGAC	0.736																																						ENST00000327787.8																			0				breast(1)|central_nervous_system(1)|endometrium(1)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	19						c.(274-276)acfs		chromosome 17 open reading frame 70							4	6	5					17																	79518970		1739	3781	5520	SO:0001589	frameshift_variant	80233				DNA repair	cytoplasm|intermediate filament cytoskeleton|nucleoplasm	DNA binding	g.chr17:79518970delG	BC008883	CCDS32765.1, CCDS32765.2	17q25.3	2012-05-30			ENSG00000185504	ENSG00000185504			26171	protein-coding gene	gene with protein product	"Fanconi anemia-associated protein, 100kDa"	611301				17396147	Standard	NM_025161		Approved	FLJ22175, FAAP100	uc002kaq.3	Q0VG06	OTTHUMG00000167764	ENST00000327787.8:c.274delC	17.37:g.79518970delG	ENSP00000333283:p.His92fs					C17orf70_ENST00000537152.1_5'UTR	p.H92fs			Q0VG06	FP100_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0371)		2	320	-	all_neural(118;0.0878)|Melanoma(429;0.242)		92					A6NNM1|Q8N3F7|Q9BV13|Q9H6K7|Q9H7E8	Frame_Shift_Del	DEL	ENST00000327787.8	37	c.274delC	CCDS32765.2																																																																																				0.736	C17orf70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396170.1	NM_025161		2	4						2	4	---	---	---	---	-	79518970	G	-	79518970	7	5	163	1	0	1	0	1	0	0	0	0	1877	1348	47	0	2403	0	C17orf70	17	79518970	Frame_Shift_Del	DEL	G	TCGA-G9-6362-01A-11D-1786-08	1750134	79518970	1676240	51	7870											
TBXA2R	6915	broad.mit.edu	37	chr19	3600542	3600542	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caccacgcagaaggaggcggCgaaccagggcgaggcgatca	12	1	16	12	5	1	1	1	0	0	1	1	5	1	2	2	5	1	1	2	5	2	0	rs201738444		TCGA-G9-6362-01A-11D-1786-08	TCGA-G9-6362-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a3aeec-d8b4-49fe-bf4a-8727ce1d8c06	365931c6-7328-42e9-919f-3b96847af1cc	g.chr19:3600542C>T	ENST00000375190.4	-	2	484	c.91G>A	c.(91-93)Gcc>Acc	p.A31T	TBXA2R_ENST00000411851.3_Missense_Mutation_p.A31T|TBXA2R_ENST00000587717.1_5'Flank|TBXA2R_ENST00000589966.1_Missense_Mutation_p.A31T	NM_001060.5|NM_201636.2	NP_001051.1|NP_963998.2	P21731	TA2R_HUMAN	thromboxane A2 receptor	31					blood coagulation (GO:0007596)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|platelet activation (GO:0030168)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood pressure (GO:0045777)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of GTPase activity (GO:0043547)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of vasoconstriction (GO:0045907)|response to drug (GO:0042493)|response to lipopolysaccharide (GO:0032496)|response to nutrient (GO:0007584)|second-messenger-mediated signaling (GO:0019932)|thromboxane A2 signaling pathway (GO:0038193)	acrosomal vesicle (GO:0001669)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|thromboxane A2 receptor activity (GO:0004961)	p.A31T(1)		kidney(1)|lung(2)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	8		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18)	Ridogrel(DB01207)	AAGGAGGCGGCGAACCAGGGC	0.697																																						ENST00000375190.4																			1	Substitution - Missense(1)	p.A31T(1)	prostate(1)	kidney(1)|lung(2)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	8						c.(91-93)Gcc>Acc		thromboxane A2 receptor	Ridogrel(DB01207)						22	29	26					19																	3600542		2104	4196	6300	SO:0001583	missense	0				platelet activation	integral to plasma membrane	guanyl-nucleotide exchange factor activity|protein binding|thromboxane A2 receptor activity	g.chr19:3600542C>T		CCDS42467.1, CCDS54198.1	19p13.3	2014-09-17						"GPCR / Class A : Prostanoid receptors"	11608	protein-coding gene	gene with protein product		188070				1825698	Standard	NM_001060		Approved		uc021umv.1	P21731		ENST00000375190.4:c.91G>A	19.37:g.3600542C>T	ENSP00000364336:p.Ala31Thr					TBXA2R_ENST00000589966.1_Missense_Mutation_p.A31T|TBXA2R_ENST00000411851.3_Missense_Mutation_p.A31T	p.A31T	NM_001060.5|NM_201636.2	NP_001051.1|NP_963998.2	P21731	TA2R_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18)	2	484	-		Hepatocellular(1079;0.137)	31					O75228|Q6DK52|Q9UCY1|Q9UCY2	Missense_Mutation	SNP	ENST00000375190.4	37	c.91G>A	CCDS42467.1	.	.	.	.	.	.	.	.	.	.	C	16.83	3.230395	0.58777	.	.	ENSG00000006638	ENST00000411851;ENST00000375190	T;T	0.36699	1.24;1.24	4.55	-0.769	0.11009	.	0.152670	0.43747	D	0.000533	T	0.16300	0.0392	L	0.27053	0.805	0.35243	D	0.77803	B;P	0.39352	0.046;0.669	B;B	0.27076	0.004;0.076	T	0.26710	-1.0095	10	0.24483	T	0.36	-11.956	8.4517	0.32875	0.4913:0.2645:0.2442:0.0	.	31;31	P21731;E2QRJ2	TA2R_HUMAN;.	T	31	ENSP00000393333:A31T;ENSP00000364336:A31T	ENSP00000364336:A31T	A	-	1	0	TBXA2R	3551542	0.924000	0.31332	0.808000	0.32385	0.738000	0.42128	0.343000	0.19944	-0.195000	0.10382	0.305000	0.20034	GCC		0.697	TBXA2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453081.2			9	23	0	0	0	0.058154	0	9	23					T	3600542	C	T	3600542	3	4	163	1	0	0	0	0	1	0	0	0	15660	768	27	1	1193	1	TBXA2R	19	3600542	Missense_Mutation	SNP	C	TCGA-G9-6362-01A-11D-1786-08		3600542	55528441	52	7871											
ZNF576	79177	broad.mit.edu	37	chr19	44103050	44103050	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gattccaagttccaggagcgTcacatgaagcgggagcaccc	11	6	12	12	2	1	1	1	1	0	0	3	4	3	3	3	2	3	2	3	2	2	2			TCGA-G9-6362-01A-11D-1786-08	TCGA-G9-6362-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a3aeec-d8b4-49fe-bf4a-8727ce1d8c06	365931c6-7328-42e9-919f-3b96847af1cc	g.chr19:44103050T>C	ENST00000336564.4	+	3	307	c.153T>C	c.(151-153)cgT>cgC	p.R51R	SRRM5_ENST00000607544.1_Intron|ZNF576_ENST00000525771.1_Silent_p.R51R|IRGQ_ENST00000422989.1_5'Flank|ZNF576_ENST00000391965.2_Silent_p.R51R|ZNF576_ENST00000528387.1_Silent_p.R51R|ZNF576_ENST00000533118.1_Silent_p.R51R|SRRM5_ENST00000526798.1_Intron|ZNF576_ENST00000529930.1_Silent_p.R51R	NM_001145347.1	NP_001138819.1	Q9H609	ZN576_HUMAN	zinc finger protein 576	51					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)	p.R51R(1)		endometrium(1)|prostate(1)	2		Prostate(69;0.0199)				TCCAGGAGCGTCACATGAAGC	0.647																																						ENST00000336564.4																			1	Substitution - coding silent(1)	p.R51R(1)	prostate(1)	endometrium(1)|prostate(1)	2						c.(151-153)cgT>cgC		zinc finger protein 576							78	91	87					19																	44103050		2203	4300	6503	SO:0001819	synonymous_variant	79177				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44103050T>C	AK026353	CCDS12625.1	19q13.31	2013-09-20			ENSG00000124444	ENSG00000124444		"Zinc fingers, C2H2-type"	28357	protein-coding gene	gene with protein product						12477932	Standard	NM_024327		Approved	MGC2508	uc002owz.2	Q9H609	OTTHUMG00000165479	ENST00000336564.4:c.153T>C	19.37:g.44103050T>C						ZNF576_ENST00000528387.1_Silent_p.R51R|SRRM5_ENST00000607544.1_Intron|ZNF576_ENST00000525771.1_Silent_p.R51R|ZNF576_ENST00000533118.1_Silent_p.R51R|ZNF576_ENST00000529930.1_Silent_p.R51R|ZNF576_ENST00000391965.2_Silent_p.R51R|SRRM5_ENST00000526798.1_Intron	p.R51R	NM_001145347.1	NP_001138819.1	Q9H609	ZN576_HUMAN			3	307	+		Prostate(69;0.0199)	51					Q9BU03	Silent	SNP	ENST00000336564.4	37	c.153T>C	CCDS12625.1																																																																																				0.647	ZNF576-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384397.1	NM_024327		4	143	0	0	0	0.021553	0	4	143					C	44103050	T	C	44103050	2	2	163	1	0	0	0	0	0	0	0	1	18005	1654	58	4		4	ZNF576	19	44103050	Silent	SNP	T	TCGA-G9-6362-01A-11D-1786-08	40502508	44103050	15025933	53	7872											
KCNB1	3745	broad.mit.edu	37	chr20	47991220	47991220	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaagatctggaccacgcggcGgacattctggaattgcagca	11	7	13	10	3	2	1	0	0	2	1	2	5	2	4	1	4	2	2	1	4	2	2			TCGA-G9-6362-01A-11D-1786-08	TCGA-G9-6362-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a3aeec-d8b4-49fe-bf4a-8727ce1d8c06	365931c6-7328-42e9-919f-3b96847af1cc	g.chr20:47991220G>A	ENST00000371741.4	-	2	1043	c.877C>T	c.(877-879)Cgc>Tgc	p.R293C		NM_004975.2	NP_004966.1	Q14721	KCNB1_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 1	293					energy reserve metabolic process (GO:0006112)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|dendrite membrane (GO:0032590)|neuronal cell body membrane (GO:0032809)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|outward rectifier potassium channel activity (GO:0015271)	p.R293C(1)		central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1)	53			BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		Dalfampridine(DB06637)	ACCACGCGGCGGACATTCTGG	0.542																																						ENST00000371741.4																			1	Substitution - Missense(1)	p.R293C(1)	prostate(1)	central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1)	53						c.(877-879)Cgc>Tgc		potassium voltage-gated channel, Shab-related subfamily, member 1							88	82	84					20																	47991220		2203	4300	6503	SO:0001583	missense	3745				energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity	g.chr20:47991220G>A	AF026005	CCDS13418.1	20q13.2	2012-07-05			ENSG00000158445	ENSG00000158445		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6231	protein-coding gene	gene with protein product		600397				7774931, 16382104	Standard	NM_004975		Approved	Kv2.1	uc002xur.1	Q14721	OTTHUMG00000033051	ENST00000371741.4:c.877C>T	20.37:g.47991220G>A	ENSP00000360806:p.Arg293Cys						p.R293C	NM_004975.2	NP_004966.1	Q14721	KCNB1_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		2	1043	-			293					Q14193	Missense_Mutation	SNP	ENST00000371741.4	37	c.877C>T	CCDS13418.1	.	.	.	.	.	.	.	.	.	.	G	18.55	3.648870	0.67358	.	.	ENSG00000158445	ENST00000371741;ENST00000538812	D	0.98419	-4.92	6.02	6.02	0.97574	Ion transport (1);	0.122489	0.52532	D	0.000067	D	0.99177	0.9715	M	0.90595	3.13	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.99482	1.0948	10	0.72032	D	0.01	.	19.1188	0.93353	0.0:0.0:1.0:0.0	.	293	Q14721	KCNB1_HUMAN	C	293;248	ENSP00000360806:R293C	ENSP00000360806:R293C	R	-	1	0	KCNB1	47424627	1.000000	0.71417	0.996000	0.52242	0.988000	0.76386	6.528000	0.73807	2.865000	0.98341	0.655000	0.94253	CGC		0.542	KCNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080374.3	NM_004975		3	89	0	0	0	0.009096	0	3	89					A	47991220	G	A	47991220	3	1	163	1	0	0	0	0	1	0	0	0	8012	1116	39	2	1703	2	KCNB1	20	47991220	Missense_Mutation	SNP	G	TCGA-G9-6362-01A-11D-1786-08		47991220	15034300	54	7873											
BAGE2	85319	broad.mit.edu	37	chr21	11058322	11058322	+	RNA	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agtgcttacaaaatgcacatCgctgaaaggggtaaaggaga	16	7	12	6	1	0	2	0	1	0	1	1	3	0	2	0	3	3	4	0	3	6	2			TCGA-G9-6362-01A-11D-1786-08	TCGA-G9-6362-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a3aeec-d8b4-49fe-bf4a-8727ce1d8c06	b9b344e8-a353-4ba6-a58f-46fb67489ffa	g.chr21:11058322C>T	ENST00000470054.1	-	0	325							Q86Y30	BAGE2_HUMAN	B melanoma antigen family, member 2							extracellular region (GO:0005576)								Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		AAATGCACATCGCTGAAAGGG	0.383																																						ENST00000470054.1																			0													B melanoma antigen family, member 2							92	70	77					21																	11058322		692	1591	2283			85319							g.chr21:11058322C>T	AF218570		21p	2009-03-13			ENSG00000187172	ENSG00000187172			15723	protein-coding gene	gene with protein product	"cancer/testis antigen family 2, member 2"					12461691	Standard	NM_182482		Approved	CT2.2		Q86Y30	OTTHUMG00000074128		21.37:g.11058322C>T												Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	0	325	-								A8K925|Q08ER0	RNA	SNP	ENST00000470054.1	37																																																																																						0.383	BAGE2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000157417.3	NM_182482		5	172	0	0	0	0.02938	0	5	172					T	11058322	C	T	11058322	1	4	163	0	1	0	0	0	0	0	0	0	1292	898	31	2		2	BAGE2	21	11058322	RNA	SNP	C	TCGA-G9-6362-01A-11D-1786-08		11058322	37071573	55	7874											
CLTCL1	8218	broad.mit.edu	37	chr22	19241488	19241488	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agctcaaggcttacctgagcCgagatgcctacgagcagcag	11	6	12	12	2	1	2	1	1	0	1	1	4	1	2	3	1	7	4	3	1	3	2	rs190950286	byFrequency	TCGA-G9-6362-01A-11D-1786-08	TCGA-G9-6362-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a3aeec-d8b4-49fe-bf4a-8727ce1d8c06	b9b344e8-a353-4ba6-a58f-46fb67489ffa	g.chr22:19241488C>T	ENST00000263200.10	-	3	585	c.513G>A	c.(511-513)tcG>tcA	p.S171S	CLTCL1_ENST00000427926.1_Silent_p.S171S|CLTCL1_ENST00000353891.5_Silent_p.S171S	NM_007098.3	NP_009029.3	P53675	CLH2_HUMAN	clathrin, heavy chain-like 1	171	Globular terminal domain.|WD40-like repeat 4.				anatomical structure morphogenesis (GO:0009653)|intracellular protein transport (GO:0006886)|mitotic nuclear division (GO:0007067)|positive regulation of glucose import (GO:0046326)|receptor-mediated endocytosis (GO:0006898)|signal transduction (GO:0007165)	clathrin coat of coated pit (GO:0030132)|clathrin coat of trans-Golgi network vesicle (GO:0030130)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|coated vesicle (GO:0030135)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|spindle (GO:0005819)|trans-Golgi network (GO:0005802)	signal transducer activity (GO:0004871)|structural molecule activity (GO:0005198)			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	Colorectal(54;0.0993)					TTACCTGAGCCGAGATGCCTA	0.478			T	?	ALCL								C|||	12	0.00239617	0.0023	0.0058	5008	,	,		16762	0		0.005	False		,,,				2504	0					ENST00000263200.10				Dom	yes		22	22q11.21	8218	T	"clathrin, heavy polypeptide-like 1"			L	?		ALCL		0				breast(2)|central_nervous_system(3)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						c.(511-513)tcG>tcA		clathrin, heavy chain-like 1		C	,	4,3888		0,4,1942	29	29	29		513,513	-8.4	0.8	22		29	54,8236		0,54,4091	yes	coding-synonymous,coding-synonymous	CLTCL1	NM_001835.3,NM_007098.3	,	0,58,6033	TT,TC,CC		0.6514,0.1028,0.4761	,	171/1584,171/1641	19241488	58,12124	1946	4145	6091	SO:0001819	synonymous_variant	8218				anatomical structure morphogenesis|intracellular protein transport|mitosis|positive regulation of glucose import|receptor-mediated endocytosis	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|spindle|trans-Golgi network	protein binding|signal transducer activity|structural molecule activity	g.chr22:19241488C>T		CCDS46662.1, CCDS54497.1, CCDS46662.2, CCDS54497.2	22q11.2	2008-06-10	2006-09-29		ENSG00000070371	ENSG00000070371			2093	protein-coding gene	gene with protein product		601273	"clathrin, heavy polypeptide-like 1"	CLTCL		8844170, 15133132	Standard	NM_007098		Approved	CLTD, CLH22, CHC22	uc021wle.1	P53675	OTTHUMG00000150109	ENST00000263200.10:c.513G>A	22.37:g.19241488C>T						CLTCL1_ENST00000427926.1_Silent_p.S171S|CLTCL1_ENST00000353891.5_Silent_p.S171S	p.S171S	NM_007098.3	NP_009029.3	P53675	CLH2_HUMAN			3	585	-	Colorectal(54;0.0993)		171			Globular terminal domain.		B7Z7U5|Q14017|Q15808|Q15809	Silent	SNP	ENST00000263200.10	37	c.513G>A	CCDS46662.1																																																																																				0.478	CLTCL1-001	KNOWN	non_canonical_genome_sequence_error|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316397.5	NM_007098		10	11	0	0	0	0.069234	0	10	11					T	19241488	C	T	19241488	2	4	163	1	0	0	0	0	0	0	0	1	3567	639	23	2		2	CLTCL1	22	19241488	Silent	SNP	C	TCGA-G9-6362-01A-11D-1786-08		19241488	32063078	56	7875											
MXRA5	25878	broad.mit.edu	37	chrX	3227796	3227796	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gttgttttggagtcactgccGagaatgttttttgccatgca	7	16	11	7	1	1	1	1	0	0	1	1	3	1	2	2	1	3	4	2	1	1	6			TCGA-G9-6362-01A-11D-1786-08	TCGA-G9-6362-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a3aeec-d8b4-49fe-bf4a-8727ce1d8c06	365931c6-7328-42e9-919f-3b96847af1cc	g.chrX:3227796G>A	ENST00000217939.6	-	7	8602	c.8448C>T	c.(8446-8448)ctC>ctT	p.L2816L		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	2816	Ig-like C2-type 12.					extracellular vesicular exosome (GO:0070062)		p.L2816L(3)		NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				AGTCACTGCCGAGAATGTTTT	0.468																																						ENST00000217939.6																			3	Substitution - coding silent(3)	p.L2816L(3)	prostate(3)	NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157						c.(8446-8448)ctC>ctT		matrix-remodelling associated 5							77	72	74					X																	3227796		2203	4300	6503	SO:0001819	synonymous_variant	25878					extracellular region		g.chrX:3227796G>A	AF245505	CCDS14124.1	Xp22.33	2013-01-29			ENSG00000101825	ENSG00000101825		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	7539	protein-coding gene	gene with protein product	"adlican"					12101425	Standard	NM_015419		Approved	DKFZp564I1922	uc004crg.4	Q9NR99	OTTHUMG00000021083	ENST00000217939.6:c.8448C>T	X.37:g.3227796G>A							p.L2816L	NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN			7	8602	-		all_lung(23;0.00031)|Lung NSC(23;0.000946)	2816			Ig-like C2-type 12.		Q6P1M7|Q9Y3Y8	Silent	SNP	ENST00000217939.6	37	c.8448C>T	CCDS14124.1																																																																																				0.468	MXRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055655.2	NM_015419		20	3	0	0	0	0.055883	0	20	3					A	3227796	G	A	3227796	2	1	163	1	0	0	0	0	0	0	0	1	10003	1045	37	2		2	MXRA5	23	3227796	Silent	SNP	G	TCGA-G9-6362-01A-11D-1786-08		3227796	152042764	57	7876											
MED14	9282	broad.mit.edu	37	chrX	40572273	40572273	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttcaaattctccttcaacaCgaaacttcacccggccattt	11	12	3	15	2	4	0	3	0	1	0	5	1	4	0	3	1	2	0	3	1	3	5			TCGA-G9-6362-01A-11D-1786-08	TCGA-G9-6362-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a3aeec-d8b4-49fe-bf4a-8727ce1d8c06	365931c6-7328-42e9-919f-3b96847af1cc	g.chrX:40572273C>T	ENST00000324817.1	-	6	792	c.674G>A	c.(673-675)cGt>cAt	p.R225H		NM_004229.3	NP_004220.2	O60244	MED14_HUMAN	mediator complex subunit 14	225	Interaction with STAT2.				androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|receptor activity (GO:0004872)|RNA polymerase II transcription cofactor activity (GO:0001104)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)	p.R225H(2)		NS(2)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(7)|lung(8)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TCCTTCAACACGAAACTTCAC	0.403																																						ENST00000324817.1																			2	Substitution - Missense(2)	p.R225H(2)	prostate(2)	NS(2)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(7)|lung(8)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						c.(673-675)cGt>cAt		mediator complex subunit 14							95	77	83					X																	40572273		2203	4300	6503	SO:0001583	missense	9282				androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	g.chrX:40572273C>T	AB006651	CCDS14254.1	Xp11.4	2008-05-14	2007-07-30	2007-07-30	ENSG00000180182	ENSG00000180182			2370	protein-coding gene	gene with protein product		300182	"cofactor required for Sp1 transcriptional activation, subunit 2, 150kDa"	CXorf4, CRSP2		9989412, 9598311	Standard	NM_004229		Approved	EXLM1, CRSP150, TRAP170, RGR1, CSRP	uc004dex.4	O60244	OTTHUMG00000024107	ENST00000324817.1:c.674G>A	X.37:g.40572273C>T	ENSP00000323720:p.Arg225His						p.R225H	NM_004229.3	NP_004220.2	O60244	MED14_HUMAN			6	792	-			225			Interaction with STAT2.		Q4KMR7|Q9UNB3	Missense_Mutation	SNP	ENST00000324817.1	37	c.674G>A	CCDS14254.1	.	.	.	.	.	.	.	.	.	.	C	17.10	3.302966	0.60195	.	.	ENSG00000180182	ENST00000324817	.	.	.	5.17	5.17	0.71159	.	0.000000	0.85682	D	0.000000	T	0.27933	0.0688	N	0.01576	-0.805	0.80722	D	1	P	0.35272	0.493	B	0.32724	0.151	T	0.32241	-0.9914	9	0.35671	T	0.21	.	18.0248	0.89265	0.0:1.0:0.0:0.0	.	225	O60244	MED14_HUMAN	H	225	.	ENSP00000323720:R225H	R	-	2	0	MED14	40457217	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.397000	0.79903	2.279000	0.76181	0.538000	0.68166	CGT		0.403	MED14-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060692.1	NM_004229		11	3	0	0	0	0.069234	0	11	3					T	40572273	C	T	40572273	3	4	163	1	0	0	0	0	1	0	0	0	9432	536	19	1	3794	1	MED14	23	40572273	Missense_Mutation	SNP	C	TCGA-G9-6362-01A-11D-1786-08	37344477	40572273	114698287	58	7877											
MED12	9968	broad.mit.edu	37	chrX	70356862	70356862	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cataggcctgtacacccagaAccagccactacctgcaggtg	11	6	9	15	0	0	1	0	0	0	1	0	1	0	1	5	2	5	2	5	2	4	3			TCGA-G9-6362-01A-11D-1786-08	TCGA-G9-6362-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a3aeec-d8b4-49fe-bf4a-8727ce1d8c06	b9b344e8-a353-4ba6-a58f-46fb67489ffa	g.chrX:70356862A>C	ENST00000374080.3	+	38	5566	c.5534A>C	c.(5533-5535)aAc>aCc	p.N1845T	MED12_ENST00000333646.6_Missense_Mutation_p.N1845T|MED12_ENST00000374102.1_Missense_Mutation_p.N1845T			Q93074	MED12_HUMAN	mediator complex subunit 12	1845	Interaction with CTNNB1 and GLI3.				androgen receptor signaling pathway (GO:0030521)|axis elongation involved in somitogenesis (GO:0090245)|canonical Wnt signaling pathway (GO:0060070)|gene expression (GO:0010467)|heart development (GO:0007507)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|negative regulation of Wnt signaling pathway (GO:0030178)|neural tube closure (GO:0001843)|oligodendrocyte development (GO:0014003)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|Schwann cell development (GO:0014044)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein C-terminus binding (GO:0008022)|protein domain specific binding (GO:0019904)|receptor activity (GO:0004872)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II transcription cofactor activity (GO:0001104)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					TACACCCAGAACCAGCCACTA	0.567			"M, S"		uterine leiomyoma		Opitz-Kaveggia Syndrome																															ENST00000333646.6				Dom	yes		X	Xq13	9968	"M, S"	mediator complex subunit 12	Yes	Opitz-Kaveggia Syndrome	M			uterine leiomyoma		0				breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420						c.(5533-5535)aAc>aCc		mediator complex subunit 12							16	18	18					X																	70356862		2003	4154	6157	SO:0001583	missense	9968				androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	g.chrX:70356862A>C	U80742	CCDS43970.1	Xq13	2011-02-14	2007-07-30	2004-11-26	ENSG00000184634	ENSG00000184634			11957	protein-coding gene	gene with protein product		300188	"trinucleotide repeat containing 11 (THR-associated protein, 230kDa subunit)", "mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)", "FG syndrome 1"	TNRC11, FGS1		9225980, 10198638, 17334363, 20507344	Standard	NM_005120		Approved	CAGH45, HOPA, OPA1, TRAP230, KIAA0192, OKS	uc004dyy.3	Q93074	OTTHUMG00000021788	ENST00000374080.3:c.5534A>C	X.37:g.70356862A>C	ENSP00000363193:p.Asn1845Thr					MED12_ENST00000478889.1_3'UTR|MED12_ENST00000374102.1_Missense_Mutation_p.N1845T|MED12_ENST00000374080.3_Missense_Mutation_p.N1845T	p.N1845T	NM_005120.2	NP_005111.2	Q93074	MED12_HUMAN			38	5733	+	Renal(35;0.156)		1845			Interaction with CTNNB1 and GLI3.		O15410|O75557|Q9UHV6|Q9UND7	Missense_Mutation	SNP	ENST00000374080.3	37	c.5534A>C	CCDS43970.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	-|-	16.49|16.49	3.138709|3.138709	0.56936|0.56936	.|.	.|.	ENSG00000184634|ENSG00000184634	ENST00000333646;ENST00000536756;ENST00000374102;ENST00000374080;ENST00000430072;ENST00000439750|ENST00000444034	T;T;T;T;T|.	0.60040|.	0.22;0.24;0.24;0.24;1.2|.	3.78|3.78	3.78|3.78	0.43462|0.43462	Mediator complex, subunit Med12, catenin-binding (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.64472|0.64472	0.2601|0.2601	M|M	0.63843|0.63843	1.955|1.955	0.80722|0.80722	D|D	1|1	D;D;D;D|.	0.62365|.	0.989;0.991;0.989;0.991|.	D;D;D;D|.	0.74023|.	0.969;0.982;0.969;0.982|.	T|T	0.64118|0.64118	-0.6482|-0.6482	10|5	0.46703|.	T|.	0.11|.	-16.0047|-16.0047	12.2263|12.2263	0.54461|0.54461	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	1845;1692;1845;1845|.	F5H3Y1;Q7Z3Z5;Q93074-3;Q93074|.	.;.;.;MED12_HUMAN|.	T|P	1845;1845;1845;1845;1813;590|66	ENSP00000333125:N1845T;ENSP00000363215:N1845T;ENSP00000363193:N1845T;ENSP00000414203:N1813T;ENSP00000408388:N590T|.	ENSP00000333125:N1845T|.	N|T	+|+	2|1	0|0	MED12|MED12	70273587|70273587	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.918000|0.918000	0.54935|0.54935	6.805000|6.805000	0.75191|0.75191	1.517000|1.517000	0.48917|0.48917	0.390000|0.390000	0.25778|0.25778	AAC|ACC		0.567	MED12-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000057105.1	NM_005120		3	5	0	0	0	0.009096	0	3	5					C	70356862	A	C	70356862	3	2	163	1	0	0	0	0	1	0	0	0	9428	43	2	5	5684	5	MED12	23	70356862	Missense_Mutation	SNP	A	TCGA-G9-6362-01A-11D-1786-08	29784589	70356862	84913698	59	7878											
ZMYM3	9203	broad.mit.edu	37	chrX	70461110	70461110	+	Missense_Mutation	SNP	G	G	C																															agaattcatagaacttgacaGggcagcggaggggattcatg																										TCGA-G9-6362-01A-11D-1786-08	TCGA-G9-6362-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a3aeec-d8b4-49fe-bf4a-8727ce1d8c06	365931c6-7328-42e9-919f-3b96847af1cc	g.chrX:70461110G>C	ENST00000353904.2	-	24	4074	c.3887C>G	c.(3886-3888)cCt>cGt	p.P1296R	ZMYM3_ENST00000373998.1_Missense_Mutation_p.P1284R|ZMYM3_ENST00000489332.1_5'UTR|ZMYM3_ENST00000314425.5_Missense_Mutation_p.P1296R|ZMYM3_ENST00000373988.1_Missense_Mutation_p.P1298R|ZMYM3_ENST00000373984.3_Missense_Mutation_p.P1206R	NM_005096.3	NP_005087.1	Q14202	ZMYM3_HUMAN	zinc finger, MYM-type 3	1296					cytoskeleton organization (GO:0007010)|multicellular organismal development (GO:0007275)|regulation of cell morphogenesis (GO:0022604)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.P1296R(1)		breast(1)|central_nervous_system(7)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(17)|ovary(1)|prostate(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(35;0.156)					GAACTTGACAGGGCAGCGGAG	0.512																																						ENST00000373998.1																			1	Substitution - Missense(1)	p.P1296R(1)	prostate(1)	breast(1)|central_nervous_system(7)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(17)|ovary(1)|prostate(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						c.(3850-3852)cCt>cGt		zinc finger, MYM-type 3							122	98	106					X																	70461110		2203	4300	6503	SO:0001583	missense	9203				multicellular organismal development	nucleus	DNA binding|zinc ion binding	g.chrX:70461110G>C	AB002383	CCDS14409.1, CCDS55443.1, CCDS55444.1	Xq13.1	2013-01-08	2005-12-19	2005-12-19	ENSG00000147130	ENSG00000147130		"Zinc fingers, MYM type"	13054	protein-coding gene	gene with protein product		300061	"zinc finger protein 261"	ZNF261		10486218	Standard	NM_201599		Approved	ZNF198L2, DXS6673E, KIAA0385, MYM	uc004dzh.2	Q14202	OTTHUMG00000021799	ENST00000353904.2:c.3887C>G	X.37:g.70461110G>C	ENSP00000343909:p.Pro1296Arg					ZMYM3_ENST00000353904.2_Missense_Mutation_p.P1296R|ZMYM3_ENST00000314425.5_Missense_Mutation_p.P1296R|ZMYM3_ENST00000489332.1_5'UTR|ZMYM3_ENST00000373984.3_Missense_Mutation_p.P1206R|ZMYM3_ENST00000373988.1_Missense_Mutation_p.P1298R	p.P1284R	NM_001171162.1	NP_001164633.1	Q14202	ZMYM3_HUMAN			24	4548	-	Renal(35;0.156)		1296					D3DVV3|O15089|Q96E26	Missense_Mutation	SNP	ENST00000353904.2	37	c.3851C>G	CCDS14409.1	.	.	.	.	.	.	.	.	.	.	g	20.3	3.958607	0.74016	.	.	ENSG00000147130	ENST00000314425;ENST00000373998;ENST00000353904;ENST00000373984;ENST00000373988	T;T;T;T;T	0.54279	1.17;0.58;1.17;1.21;1.17	4.79	4.79	0.61399	.	0.000000	0.64402	D	0.000004	T	0.72906	0.3519	M	0.73962	2.25	0.58432	D	0.999997	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.77427	-0.2592	10	0.87932	D	0	-8.3833	17.073	0.86579	0.0:0.0:1.0:0.0	.	1284;1296	Q14202-2;Q14202	.;ZMYM3_HUMAN	R	1296;1284;1296;1206;1298	ENSP00000322845:P1296R;ENSP00000363110:P1284R;ENSP00000343909:P1296R;ENSP00000363096:P1206R;ENSP00000363100:P1298R	ENSP00000322845:P1296R	P	-	2	0	ZMYM3	70377835	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.254000	0.95512	2.209000	0.71365	0.583000	0.79449	CCT		0.512	ZMYM3-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000057154.1	NM_201599		5	23	0	0	0	0.021553	0	5	23					C	70461110	G	C	70461110	3	2	163	1	0	0	0	0	1	0	0	0	17698	1000	35	5	233	5	ZMYM3	23	70461110	Missense_Mutation	SNP	G	TCGA-G9-6362-01A-11D-1786-08	104248	70461110	84809450	60	7879	46	2									
ZMYM3	9203	broad.mit.edu	37	chrX	70461111	70461111	+	Missense_Mutation	SNP	G	G	T																															gaattcatagaacttgacagGgcagcggaggggattcatgc																										TCGA-G9-6362-01A-11D-1786-08	TCGA-G9-6362-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a3aeec-d8b4-49fe-bf4a-8727ce1d8c06	365931c6-7328-42e9-919f-3b96847af1cc	g.chrX:70461111G>T	ENST00000353904.2	-	24	4073	c.3886C>A	c.(3886-3888)Cct>Act	p.P1296T	ZMYM3_ENST00000373998.1_Missense_Mutation_p.P1284T|ZMYM3_ENST00000489332.1_5'UTR|ZMYM3_ENST00000314425.5_Missense_Mutation_p.P1296T|ZMYM3_ENST00000373988.1_Missense_Mutation_p.P1298T|ZMYM3_ENST00000373984.3_Missense_Mutation_p.P1206T	NM_005096.3	NP_005087.1	Q14202	ZMYM3_HUMAN	zinc finger, MYM-type 3	1296					cytoskeleton organization (GO:0007010)|multicellular organismal development (GO:0007275)|regulation of cell morphogenesis (GO:0022604)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.P1296T(1)		breast(1)|central_nervous_system(7)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(17)|ovary(1)|prostate(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(35;0.156)					AACTTGACAGGGCAGCGGAGG	0.507																																						ENST00000373998.1																			1	Substitution - Missense(1)	p.P1296T(1)	prostate(1)	breast(1)|central_nervous_system(7)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(17)|ovary(1)|prostate(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						c.(3850-3852)Cct>Act		zinc finger, MYM-type 3							122	98	106					X																	70461111		2203	4300	6503	SO:0001583	missense	9203				multicellular organismal development	nucleus	DNA binding|zinc ion binding	g.chrX:70461111G>T	AB002383	CCDS14409.1, CCDS55443.1, CCDS55444.1	Xq13.1	2013-01-08	2005-12-19	2005-12-19	ENSG00000147130	ENSG00000147130		"Zinc fingers, MYM type"	13054	protein-coding gene	gene with protein product		300061	"zinc finger protein 261"	ZNF261		10486218	Standard	NM_201599		Approved	ZNF198L2, DXS6673E, KIAA0385, MYM	uc004dzh.2	Q14202	OTTHUMG00000021799	ENST00000353904.2:c.3886C>A	X.37:g.70461111G>T	ENSP00000343909:p.Pro1296Thr					ZMYM3_ENST00000353904.2_Missense_Mutation_p.P1296T|ZMYM3_ENST00000314425.5_Missense_Mutation_p.P1296T|ZMYM3_ENST00000489332.1_5'UTR|ZMYM3_ENST00000373984.3_Missense_Mutation_p.P1206T|ZMYM3_ENST00000373988.1_Missense_Mutation_p.P1298T	p.P1284T	NM_001171162.1	NP_001164633.1	Q14202	ZMYM3_HUMAN			24	4547	-	Renal(35;0.156)		1296					D3DVV3|O15089|Q96E26	Missense_Mutation	SNP	ENST00000353904.2	37	c.3850C>A	CCDS14409.1	.	.	.	.	.	.	.	.	.	.	g	18.22	3.576784	0.65878	.	.	ENSG00000147130	ENST00000314425;ENST00000373998;ENST00000353904;ENST00000373984;ENST00000373988	T;T;T;T;T	0.53857	1.19;0.6;1.19;1.23;1.19	4.79	3.93	0.45458	.	0.000000	0.64402	D	0.000004	T	0.70378	0.3217	M	0.73962	2.25	0.52099	D	0.999941	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	T	0.73528	-0.3954	10	0.87932	D	0	-8.3833	12.2326	0.54497	0.0844:0.0:0.9155:0.0	.	1284;1296	Q14202-2;Q14202	.;ZMYM3_HUMAN	T	1296;1284;1296;1206;1298	ENSP00000322845:P1296T;ENSP00000363110:P1284T;ENSP00000343909:P1296T;ENSP00000363096:P1206T;ENSP00000363100:P1298T	ENSP00000322845:P1296T	P	-	1	0	ZMYM3	70377836	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.254000	0.95512	1.013000	0.39391	0.583000	0.79449	CCT		0.507	ZMYM3-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000057154.1	NM_201599		5	23	1	0	5.9392e-07	0.021553	6.32994e-07	5	23					T	70461111	G	T	70461111	3	4	163	1	0	0	0	0	1	0	0	0	17698	1232	43	5	234	5	ZMYM3	23	70461111	Missense_Mutation	SNP	G	TCGA-G9-6362-01A-11D-1786-08	1	70461111	84809449	61	7880	46	2									
GABRE	2564	broad.mit.edu	37	chrX	151138818	151138818	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gaggctggggctgggggccaTagacaacatcacgggaagag	11	4	18	8	1	1	2	1	0	0	2	1	4	1	3	1	6	1	2	1	6	3	1	rs61730039	byFrequency	TCGA-G9-6362-01A-11D-1786-08	TCGA-G9-6362-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a3aeec-d8b4-49fe-bf4a-8727ce1d8c06	365931c6-7328-42e9-919f-3b96847af1cc	g.chrX:151138818T>C	ENST00000370328.3	-	2	166	c.113A>G	c.(112-114)tAt>tGt	p.Y38C	GABRE_ENST00000393914.3_5'UTR|GABRE_ENST00000370325.1_Missense_Mutation_p.Y38C	NM_004961.3	NP_004952.2	P78334	GBRE_HUMAN	gamma-aminobutyric acid (GABA) A receptor, epsilon	38					gamma-aminobutyric acid signaling pathway (GO:0007214)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)	p.Y38C(2)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|skin(1)	27	Acute lymphoblastic leukemia(192;6.56e-05)				Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	CTGGGGGCCATAGACAACATC	0.512													t|||	7	0.0018543	0	0.0014	3775	,	,		12419	0		0.004	False		,,,				2504	0.002					ENST00000370325.1																			2	Substitution - Missense(2)	p.Y38C(2)	prostate(1)|lung(1)	breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|skin(1)	27						c.(112-114)tAt>tGt		gamma-aminobutyric acid (GABA) A receptor, epsilon			CYS/TYR	0,3835		0,0,0,1632,571	121	116	117		113	2.9	0	X	dbSNP_129	117	50,6678		0,32,18,2396,1854	yes	missense	GABRE	NM_004961.3	194	0,32,18,4028,2425	CC,CT,C,TT,T		0.7432,0.0,0.4734	probably-damaging	38/507	151138818	50,10513	2203	4300	6503	SO:0001583	missense	2564				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chrX:151138818T>C	Y09765	CCDS14703.1	Xq28	2012-06-22			ENSG00000102287	ENSG00000102287		"GABA receptors", "Ligand-gated ion channels / GABA(A) receptors"	4085	protein-coding gene	gene with protein product	"GABA(A) receptor, epsilon"	300093				9039914, 9084408	Standard	NM_004961		Approved		uc004ffi.3	P78334	OTTHUMG00000024176	ENST00000370328.3:c.113A>G	X.37:g.151138818T>C	ENSP00000359353:p.Tyr38Cys					GABRE_ENST00000393914.3_5'UTR|GABRE_ENST00000370328.3_Missense_Mutation_p.Y38C	p.Y38C			P78334	GBRE_HUMAN			2	166	-	Acute lymphoblastic leukemia(192;6.56e-05)		38					E7ET93|O15345|O15346|Q6PCD2|Q99520	Missense_Mutation	SNP	ENST00000370328.3	37	c.113A>G	CCDS14703.1	3	0.0018083182640144665	0	0.0	0	0.0	0	0.0	3	0.00395778364116095	t	14.12	2.440276	0.43326	0.0	0.007432	ENSG00000102287	ENST00000370328;ENST00000370325	T;T	0.79247	-1.25;-0.66	4.11	2.9	0.33743	.	.	.	.	.	T	0.57373	0.2049	N	0.08118	0	0.09310	N	0.999994	D	0.63046	0.992	P	0.51355	0.667	T	0.53429	-0.8440	9	0.72032	D	0.01	.	5.7704	0.18249	0.2498:0.0:0.0:0.7502	.	38	P78334	GBRE_HUMAN	C	38	ENSP00000359353:Y38C;ENSP00000359350:Y38C	ENSP00000359350:Y38C	Y	-	2	0	GABRE	150889474	0.000000	0.05858	0.005000	0.12908	0.030000	0.12068	0.377000	0.20552	0.678000	0.31325	0.483000	0.47432	TAT		0.512	GABRE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060903.1	NM_004961, NM_021990, NM_021984		81	15	0	0	0	0.048971	0	81	15					C	151138818	T	C	151138818	3	2	163	1	0	0	0	0	1	0	0	0	6170	1406	49	4	1439	4	GABRE	23	151138818	Missense_Mutation	SNP	T	TCGA-G9-6362-01A-11D-1786-08	80677707	151138818	4131742	62	7881											
MAST2	23139	broad.mit.edu	37	chr1	46493409	46493409	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cttcgttcttccagcctcctAattacatccatggggcacat	8	13	6	14	1	1	0	0	0	1	0	5	0	4	0	4	2	2	2	4	2	2	5			TCGA-G9-6363-01A-21D-1786-08	TCGA-G9-6363-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78cd4d11-912a-4d29-b702-b04b9ad5528f	d0674198-9352-413f-98ab-cce0fa8b47f6	g.chr1:46493409A>T	ENST00000361297.2	+	17	2209	c.1926A>T	c.(1924-1926)ctA>ctT	p.L642L	MAST2_ENST00000372009.2_Silent_p.L572L	NM_015112.2	NP_055927.2			microtubule associated serine/threonine kinase 2									p.L642L(1)		breast(1)|lung(3)|ovary(5)|stomach(2)	11	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.184)					CCAGCCTCCTAATTACATCCA	0.423																																						ENST00000361297.2																			1	Substitution - coding silent(1)	p.L642L(1)	prostate(1)	breast(1)|lung(3)|ovary(5)|stomach(2)	11						c.(1924-1926)ctA>ctT		microtubule associated serine/threonine kinase 2							99	95	96					1																	46493409		1880	4141	6021	SO:0001819	synonymous_variant	23139				regulation of interleukin-12 biosynthetic process|spermatid differentiation	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|phosphatase binding|protein serine/threonine kinase activity	g.chr1:46493409A>T	AB047005	CCDS41326.1	1p34.1	2008-02-05			ENSG00000086015	ENSG00000086015			19035	protein-coding gene	gene with protein product		612257					Standard	NM_015112		Approved	MAST205, KIAA0807	uc001cov.3	Q6P0Q8	OTTHUMG00000008007	ENST00000361297.2:c.1926A>T	1.37:g.46493409A>T						MAST2_ENST00000372008.1_Silent_p.L527L|MAST2_ENST00000372009.2_Silent_p.L572L	p.L642L	NM_015112.2	NP_055927.2	Q6P0Q8	MAST2_HUMAN			17	2209	+	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.184)		642			Protein kinase.			Silent	SNP	ENST00000361297.2	37	c.1926A>T	CCDS41326.1																																																																																				0.423	MAST2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021977.1	NM_015112		29	69	0	0	0	0.001786	0	29	69					T	46493409	A	T	46493409	2	4	164	1	0	0	0	0	0	0	0	1	9325	349	13	5		5	MAST2	1	46493409	Silent	SNP	A	TCGA-G9-6363-01A-21D-1786-08		46493409	202757212	1	7882											
JAK1	3716	broad.mit.edu	37	chr1	65300335	65300335	+	Nonsense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcatttcctcataagttgAtaaacctgtaaaaagaaaga	18	10	6	7	0	1	3	1	1	0	2	2	3	2	3	2	0	2	3	2	0	7	5			TCGA-G9-6363-01A-21D-1786-08	TCGA-G9-6363-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78cd4d11-912a-4d29-b702-b04b9ad5528f	d0674198-9352-413f-98ab-cce0fa8b47f6	g.chr1:65300335A>C	ENST00000342505.4	-	25	3623	c.3375T>G	c.(3373-3375)taT>taG	p.Y1125*		NM_002227.2	NP_002218.2	P23458	JAK1_HUMAN	Janus kinase 1	1125	Protein kinase 2. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cytokine-mediated signaling pathway (GO:0019221)|enzyme linked receptor protein signaling pathway (GO:0007167)|interferon-gamma-mediated signaling pathway (GO:0060333)|interleukin-2-mediated signaling pathway (GO:0038110)|intracellular signal transduction (GO:0035556)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to antibiotic (GO:0046677)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|growth hormone receptor binding (GO:0005131)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)	p.Y1125*(1)		breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(48)|kidney(3)|large_intestine(8)|liver(2)|lung(19)|ovary(1)|prostate(12)|skin(1)|soft_tissue(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	120				BRCA - Breast invasive adenocarcinoma(111;0.0485)	Ruxolitinib(DB08877)|Tofacitinib(DB08895)	TCATAAGTTGATAAACCTGTA	0.303			Mis		ALL																																	ENST00000342505.4				Dom	yes		1	1p32.3-p31.3	3716	Mis	Janus kinase 1			L			ALL		1	Substitution - Nonsense(1)	p.Y1125*(1)	prostate(1)	breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(48)|kidney(3)|large_intestine(8)|liver(2)|lung(19)|ovary(1)|prostate(12)|skin(1)|soft_tissue(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						c.(3373-3375)taT>taG		Janus kinase 1							76	71	72					1																	65300335		1798	4066	5864	SO:0001587	stop_gained	3716				interferon-gamma-mediated signaling pathway|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to antibiotic|type I interferon-mediated signaling pathway	cytoskeleton|cytosol|endomembrane system|membrane|nucleus	ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity	g.chr1:65300335A>C	M64174	CCDS41346.1	1p32.3-p31.3	2009-07-10	2009-04-23		ENSG00000162434	ENSG00000162434	2.7.10.1		6190	protein-coding gene	gene with protein product		147795		JAK1B		1848670, 7698020	Standard	NM_002227		Approved	JAK1A, JTK3	uc001dbu.1	P23458	OTTHUMG00000009310	ENST00000342505.4:c.3375T>G	1.37:g.65300335A>C	ENSP00000343204:p.Tyr1125*						p.Y1125*	NM_002227.2	NP_002218.2	P23458	JAK1_HUMAN		BRCA - Breast invasive adenocarcinoma(111;0.0485)	25	3623	-			1125			Protein kinase 2.		Q59GQ2|Q9UD26	Nonsense_Mutation	SNP	ENST00000342505.4	37	c.3375T>G	CCDS41346.1	.	.	.	.	.	.	.	.	.	.	A	42	9.300036	0.99130	.	.	ENSG00000162434	ENST00000342505	.	.	.	5.01	3.87	0.44632	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-4.8321	7.7928	0.29129	0.7902:0.0:0.2098:0.0	.	.	.	.	X	1125	.	ENSP00000343204:Y1125X	Y	-	3	2	JAK1	65072923	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	0.955000	0.29188	2.101000	0.63845	0.528000	0.53228	TAT		0.303	JAK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025791.1	NM_002227		3	66	0	0	0	0.004672	0	3	66					C	65300335	A	C	65300335	4	2	164	1	0	0	0	0	0	1	0	0	7937	340	12	5	93	5	JAK1	1	65300335	Nonsense_Mutation	SNP	A	TCGA-G9-6363-01A-21D-1786-08	18806926	65300335	183950286	2	7883											
JAK1	3716	broad.mit.edu	37	chr1	65301865	65301865	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cagacgtcagaggcaatataAaatttagattgcattaaaca	18	10	7	6	1	1	3	1	0	0	3	1	3	1	3	0	1	2	2	0	1	7	6			TCGA-G9-6363-01A-21D-1786-08	TCGA-G9-6363-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78cd4d11-912a-4d29-b702-b04b9ad5528f	d0674198-9352-413f-98ab-cce0fa8b47f6	g.chr1:65301865A>C	ENST00000342505.4	-	23	3422	c.3174T>G	c.(3172-3174)ttT>ttG	p.F1058L		NM_002227.2	NP_002218.2	P23458	JAK1_HUMAN	Janus kinase 1	1058	Protein kinase 2. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cytokine-mediated signaling pathway (GO:0019221)|enzyme linked receptor protein signaling pathway (GO:0007167)|interferon-gamma-mediated signaling pathway (GO:0060333)|interleukin-2-mediated signaling pathway (GO:0038110)|intracellular signal transduction (GO:0035556)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to antibiotic (GO:0046677)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|growth hormone receptor binding (GO:0005131)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)	p.F1058L(1)		breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(48)|kidney(3)|large_intestine(8)|liver(2)|lung(19)|ovary(1)|prostate(12)|skin(1)|soft_tissue(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	120				BRCA - Breast invasive adenocarcinoma(111;0.0485)	Ruxolitinib(DB08877)|Tofacitinib(DB08895)	AGGCAATATAAAATTTAGATT	0.423			Mis		ALL																																	ENST00000342505.4				Dom	yes		1	1p32.3-p31.3	3716	Mis	Janus kinase 1			L			ALL		1	Substitution - Missense(1)	p.F1058L(1)	prostate(1)	breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(48)|kidney(3)|large_intestine(8)|liver(2)|lung(19)|ovary(1)|prostate(12)|skin(1)|soft_tissue(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						c.(3172-3174)ttT>ttG		Janus kinase 1							82	79	80					1																	65301865		1876	4127	6003	SO:0001583	missense	3716				interferon-gamma-mediated signaling pathway|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to antibiotic|type I interferon-mediated signaling pathway	cytoskeleton|cytosol|endomembrane system|membrane|nucleus	ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity	g.chr1:65301865A>C	M64174	CCDS41346.1	1p32.3-p31.3	2009-07-10	2009-04-23		ENSG00000162434	ENSG00000162434	2.7.10.1		6190	protein-coding gene	gene with protein product		147795		JAK1B		1848670, 7698020	Standard	NM_002227		Approved	JAK1A, JTK3	uc001dbu.1	P23458	OTTHUMG00000009310	ENST00000342505.4:c.3174T>G	1.37:g.65301865A>C	ENSP00000343204:p.Phe1058Leu						p.F1058L	NM_002227.2	NP_002218.2	P23458	JAK1_HUMAN		BRCA - Breast invasive adenocarcinoma(111;0.0485)	23	3422	-			1058			Protein kinase 2.		Q59GQ2|Q9UD26	Missense_Mutation	SNP	ENST00000342505.4	37	c.3174T>G	CCDS41346.1	.	.	.	.	.	.	.	.	.	.	A	16.03	3.008013	0.54361	.	.	ENSG00000162434	ENST00000342505	D	0.88896	-2.44	5.02	-1.65	0.08291	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	.	.	.	.	D	0.88559	0.6469	L	0.49256	1.55	0.58432	D	0.999993	D	0.89917	1.0	D	0.83275	0.996	D	0.87010	0.2122	9	0.59425	D	0.04	-5.1318	11.9287	0.52835	0.5409:0.0:0.4591:0.0	.	1058	P23458	JAK1_HUMAN	L	1058	ENSP00000343204:F1058L	ENSP00000343204:F1058L	F	-	3	2	JAK1	65074453	0.998000	0.40836	0.988000	0.46212	0.195000	0.23768	0.614000	0.24314	-0.176000	0.10707	-0.408000	0.06270	TTT		0.423	JAK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025791.1	NM_002227		3	35	0	0	0	0.004672	0	3	35					C	65301865	A	C	65301865	3	2	164	1	0	0	0	0	1	0	0	0	7937	11	1	5	302	5	JAK1	1	65301865	Missense_Mutation	SNP	A	TCGA-G9-6363-01A-21D-1786-08	1530	65301865	183948756	3	7884											
FAM78B	149297	broad.mit.edu	37	chr1	166039642	166039642	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cctgcccaccagccgggcccGctgccccaagagctgaagag	8	3	12	18	2	0	3	0	1	0	2	0	3	0	3	7	1	4	2	7	1	2	0			TCGA-G9-6363-01A-21D-1786-08	TCGA-G9-6363-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78cd4d11-912a-4d29-b702-b04b9ad5528f	d0674198-9352-413f-98ab-cce0fa8b47f6	g.chr1:166039642G>A	ENST00000338353.3	-	3	1211	c.622C>T	c.(622-624)Cgg>Tgg	p.R208W	FAM78B_ENST00000354422.3_Missense_Mutation_p.R208W			Q5VT40	FA78B_HUMAN	family with sequence similarity 78, member B	208								p.R208W(2)		central_nervous_system(1)|endometrium(5)|large_intestine(1)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19	all_hematologic(923;0.0813)|Acute lymphoblastic leukemia(8;0.155)					AGCCGGGCCCGCTGCCCCAAG	0.582																																						ENST00000338353.3																			2	Substitution - Missense(2)	p.R208W(2)	prostate(2)	central_nervous_system(1)|endometrium(5)|large_intestine(1)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19						c.(622-624)Cgg>Tgg		family with sequence similarity 78, member B							98	93	95					1																	166039642		2203	4300	6503	SO:0001583	missense	149297							g.chr1:166039642G>A	AL626787	CCDS30931.1	1q24.1	2008-02-05			ENSG00000188859	ENSG00000188859			13495	protein-coding gene	gene with protein product							Standard	NM_001017961		Approved		uc021pee.1	Q5VT40	OTTHUMG00000034705	ENST00000338353.3:c.622C>T	1.37:g.166039642G>A	ENSP00000339681:p.Arg208Trp					FAM78B_ENST00000354422.3_Missense_Mutation_p.R208W	p.R208W			Q5VT40	FA78B_HUMAN			3	1211	-	all_hematologic(923;0.0813)|Acute lymphoblastic leukemia(8;0.155)		208					B7Z693	Missense_Mutation	SNP	ENST00000338353.3	37	c.622C>T	CCDS30931.1	.	.	.	.	.	.	.	.	.	.	G	16.54	3.151357	0.57151	.	.	ENSG00000188859	ENST00000354422;ENST00000338353	.	.	.	5.71	3.78	0.43462	.	0.000000	0.85682	D	0.000000	T	0.66346	0.2780	M	0.75777	2.31	0.53688	D	0.999971	D	0.89917	1.0	D	0.80764	0.994	T	0.73288	-0.4030	8	0.87932	D	0	-17.2283	12.878	0.58001	0.0:0.0:0.7037:0.2963	.	208	Q5VT40	FA78B_HUMAN	W	208	.	ENSP00000339681:R208W	R	-	1	2	FAM78B	164306266	1.000000	0.71417	0.967000	0.41034	0.852000	0.48524	5.238000	0.65366	0.709000	0.31976	0.655000	0.94253	CGG		0.582	FAM78B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343108.1	NM_001017961		24	62	0	0	0	0.00278	0	24	62					A	166039642	G	A	166039642	3	1	164	1	0	0	0	0	1	0	0	0	5627	1086	38	1	167	1	FAM78B	1	166039642	Missense_Mutation	SNP	G	TCGA-G9-6363-01A-21D-1786-08	100737777	166039642	83210979	4	7885											
FMO1	2326	broad.mit.edu	37	chr1	171250000	171250000	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gctacccatgggacatggtgTtcatgacacgctttcagaac	10	10	10	11	1	2	2	2	1	0	1	2	3	2	3	1	2	2	3	1	2	2	3	rs148980563		TCGA-G9-6363-01A-21D-1786-08	TCGA-G9-6363-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78cd4d11-912a-4d29-b702-b04b9ad5528f	d0674198-9352-413f-98ab-cce0fa8b47f6	g.chr1:171250000T>C	ENST00000354841.4	+	5	834	c.703T>C	c.(703-705)Ttc>Ctc	p.F235L	FMO1_ENST00000469112.1_3'UTR|FMO1_ENST00000402921.2_Missense_Mutation_p.F172L|FMO1_ENST00000367750.3_Missense_Mutation_p.F235L	NM_001282692.1	NP_001269621.1	Q01740	FMO1_HUMAN	flavin containing monooxygenase 1	235					NADPH oxidation (GO:0070995)|organic acid metabolic process (GO:0006082)|small molecule metabolic process (GO:0044281)|toxin metabolic process (GO:0009404)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum lumen (GO:0005788)|integral component of membrane (GO:0016021)	flavin adenine dinucleotide binding (GO:0050660)|monooxygenase activity (GO:0004497)|N,N-dimethylaniline monooxygenase activity (GO:0004499)|NADP binding (GO:0050661)	p.F235L(1)		NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(2)|skin(2)	27	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)				Cevimeline(DB00185)|Cimetidine(DB00501)|Lorcaserin(DB04871)|Tamoxifen(DB00675)|Vandetanib(DB05294)|Voriconazole(DB00582)	GGACATGGTGTTCATGACACG	0.493													T|||	1	0.000199681	0	0.0014	5008	,	,		19470	0		0	False		,,,				2504	0					ENST00000354841.4																			1	Substitution - Missense(1)	p.F235L(1)	prostate(1)	NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(2)|skin(2)	27						c.(703-705)Ttc>Ctc		flavin containing monooxygenase 1		T	LEU/PHE	11,4395	17.9+/-39.9	0,11,2192	119	103	108		703	2.4	0.4	1	dbSNP_134	108	0,8600		0,0,4300	yes	missense	FMO1	NM_002021.1	22	0,11,6492	CC,CT,TT		0.0,0.2497,0.0846	benign	235/533	171250000	11,12995	2203	4300	6503	SO:0001583	missense	2326				NADPH oxidation|organic acid metabolic process|toxin metabolic process|xenobiotic metabolic process	endoplasmic reticulum lumen|integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding	g.chr1:171250000T>C	M64082	CCDS1294.1, CCDS60351.1	1q24.3	2011-08-04			ENSG00000010932	ENSG00000010932	1.14.13.8		3769	protein-coding gene	gene with protein product		136130					Standard	XM_005245037		Approved		uc001ghl.3	Q01740	OTTHUMG00000035502	ENST00000354841.4:c.703T>C	1.37:g.171250000T>C	ENSP00000346901:p.Phe235Leu					FMO1_ENST00000367750.3_Missense_Mutation_p.F235L|FMO1_ENST00000402921.2_Missense_Mutation_p.F172L|FMO1_ENST00000469112.1_3'UTR	p.F235L			Q01740	FMO1_HUMAN			5	834	+	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)		235					A8K248|B7Z3P4|Q5QPT2|Q9UJC2	Missense_Mutation	SNP	ENST00000354841.4	37	c.703T>C	CCDS1294.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	T	8.570	0.879852	0.17467	0.002497	0.0	ENSG00000010932	ENST00000367750;ENST00000402921;ENST00000354841	T;T;T	0.43688	0.94;0.94;0.94	6.06	2.41	0.29592	.	0.345482	0.34046	N	0.004319	T	0.10937	0.0267	N	0.17901	0.54	0.40350	D	0.979123	P;B;P	0.41498	0.752;0.001;0.478	P;B;B	0.47346	0.544;0.004;0.305	T	0.18903	-1.0322	10	0.06099	T	0.92	-0.305	3.7208	0.08456	0.1306:0.071:0.1368:0.6617	.	172;235;235	B7Z3P4;B2RCG5;Q01740	.;.;FMO1_HUMAN	L	235;172;235	ENSP00000356724:F235L;ENSP00000385543:F172L;ENSP00000346901:F235L	ENSP00000346901:F235L	F	+	1	0	FMO1	169516624	0.003000	0.15002	0.381000	0.26106	0.974000	0.67602	0.523000	0.22925	0.150000	0.19136	-0.313000	0.08912	TTC		0.493	FMO1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086212.1	NM_002021		18	61	0	0	0	0.00499	0	18	61					C	171250000	T	C	171250000	3	2	164	1	0	0	0	0	1	0	0	0	5954	1725	60	4	721	4	FMO1	1	171250000	Missense_Mutation	SNP	T	TCGA-G9-6363-01A-21D-1786-08	5210358	171250000	78000621	5	7886											
FCAMR	83953	broad.mit.edu	37	chr1	207133044	207133044	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aggtcctccttctccagagcTtcctttgcaatagaaccaga	10	11	7	13	0	1	3	0	0	1	3	5	3	4	3	5	1	3	2	5	1	3	4			TCGA-G9-6363-01A-21D-1786-08	TCGA-G9-6363-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78cd4d11-912a-4d29-b702-b04b9ad5528f	d0674198-9352-413f-98ab-cce0fa8b47f6	g.chr1:207133044T>C	ENST00000324852.4	-	7	2027	c.1553A>G	c.(1552-1554)aAg>aGg	p.K518R	FCAMR_ENST00000450945.2_Missense_Mutation_p.S251G|FCAMR_ENST00000486178.1_5'UTR|FCAMR_ENST00000400962.3_Missense_Mutation_p.S251G	NM_001170631.1	NP_001164102.1	Q8WWV6	FCAMR_HUMAN	Fc receptor, IgA, IgM, high affinity	473					immune system process (GO:0002376)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.S251G(1)		endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|skin(1)|stomach(1)	11						TCTCCAGAGCTTCCTTTGCAA	0.527																																					Ovarian(199;1883 2142 16966 44409 45154)	ENST00000324852.4																			1	Substitution - Missense(1)	p.S251G(1)	prostate(1)	endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|skin(1)|stomach(1)	11						c.(1552-1554)aAg>aGg		Fc receptor, IgA, IgM, high affinity							139	133	135					1																	207133044		1568	3582	5150	SO:0001583	missense	83953					integral to membrane|plasma membrane	receptor activity	g.chr1:207133044T>C	AF354295	CCDS41460.1, CCDS53468.1	1q32.1	2013-01-14			ENSG00000162897	ENSG00000162897		"CD molecules", "Immunoglobulin superfamily / V-set domain containing"	24692	protein-coding gene	gene with protein product		605484				11779189	Standard	NM_001122979		Approved	FKSG87, FCA/MR, CD351	uc001hfa.4	Q8WWV6	OTTHUMG00000036579	ENST00000324852.4:c.1553A>G	1.37:g.207133044T>C	ENSP00000316491:p.Lys518Arg					FCAMR_ENST00000400962.3_Missense_Mutation_p.S251G|FCAMR_ENST00000450945.2_Missense_Mutation_p.S251G|FCAMR_ENST00000486178.1_5'UTR	p.K518R	NM_001170631.1	NP_001164102.1	Q8WWV6	FCAMR_HUMAN			7	2027	-			473					Q32M82|Q8WWV5|Q96SA2	Missense_Mutation	SNP	ENST00000324852.4	37	c.1553A>G	CCDS53468.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	10.99|10.99	1.506918|1.506918	0.26949|0.26949	.|.	.|.	ENSG00000162897|ENSG00000162897	ENST00000324852|ENST00000400962;ENST00000450945	T|T;T	0.05855|0.08458	3.38|3.09;3.09	4.73|4.73	0.973|0.973	0.19710|0.19710	.|.	.|.	.|.	.|.	.|.	T|T	0.04452|0.04452	0.0122|0.0122	.|.	.|.	.|.	0.19945|0.19945	N|N	0.999947|0.999947	B;B|B	0.09022|0.17667	0.002;0.002|0.023	B;B|B	0.08055|0.19391	0.002;0.003|0.025	T|T	0.46541|0.46541	-0.9184|-0.9184	8|8	0.35671|0.21014	T|T	0.21|0.42	7.4614|7.4614	3.7496|3.7496	0.08561|0.08561	0.0:0.2078:0.1896:0.6026|0.0:0.2078:0.1896:0.6026	.|.	493;473|206	D2KTA8;Q8WWV6|Q8WWV6-2	.;FCAMR_HUMAN|.	R|G	518|251	ENSP00000316491:K518R|ENSP00000383746:S251G;ENSP00000392707:S251G	ENSP00000316491:K518R|ENSP00000383746:S251G	K|S	-|-	2|1	0|0	FCAMR|FCAMR	205199667|205199667	0.005000|0.005000	0.15991|0.15991	0.166000|0.166000	0.22797|0.22797	0.832000|0.832000	0.47134|0.47134	0.103000|0.103000	0.15292|0.15292	0.064000|0.064000	0.16427|0.16427	0.533000|0.533000	0.62120|0.62120	AAG|AGC		0.527	FCAMR-002	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088969.2	NM_032029		37	151	0	0	0	0.005524	0	37	151					C	207133044	T	C	207133044	3	2	164	1	0	0	0	0	1	0	0	0	5772	1609	56	4	188	4	FCAMR	1	207133044	Missense_Mutation	SNP	T	TCGA-G9-6363-01A-21D-1786-08	35883044	207133044	42117577	6	7887											
JMJD4	65094	broad.mit.edu	37	chr1	227920349	227920349	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agtggtaaaactcttcaaagTtgatgcccgagcaggacctc	12	9	10	10	1	2	1	1	1	1	0	3	3	2	2	2	2	3	3	2	2	3	3			TCGA-G9-6363-01A-21D-1786-08	TCGA-G9-6363-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78cd4d11-912a-4d29-b702-b04b9ad5528f	d0674198-9352-413f-98ab-cce0fa8b47f6	g.chr1:227920349T>G	ENST00000366758.3	-	6	1135	c.1136A>C	c.(1135-1137)aAc>aCc	p.N379T	SNAP47_ENST00000366760.1_Intron|SNAP47_ENST00000480897.1_3'UTR|SNAP47_ENST00000366759.4_5'Flank|JMJD4_ENST00000438896.2_Missense_Mutation_p.N363T|JMJD4_ENST00000485807.1_5'UTR|SNAP47_ENST00000315781.5_5'Flank	NM_023007.2	NP_075383.2	Q9H9V9	JMJD4_HUMAN	jumonji domain containing 4	379								p.N379T(2)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(1)	9		Prostate(94;0.0885)				CTCTTCAAAGTTGATGCCCGA	0.572																																						ENST00000366758.3																			2	Substitution - Missense(2)	p.N379T(2)	prostate(2)	endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(1)	9						c.(1135-1137)aAc>aCc		jumonji domain containing 4							68	62	64					1																	227920349		2203	4300	6503	SO:0001583	missense	65094							g.chr1:227920349T>G	AK022579	CCDS1561.1, CCDS59203.1	1q42.13	2008-02-05			ENSG00000081692	ENSG00000081692			25724	protein-coding gene	gene with protein product						12477932	Standard	NM_023007		Approved	FLJ12517	uc001hrb.3	Q9H9V9	OTTHUMG00000037698	ENST00000366758.3:c.1136A>C	1.37:g.227920349T>G	ENSP00000355720:p.Asn379Thr					JMJD4_ENST00000438896.2_Missense_Mutation_p.N363T|JMJD4_ENST00000485807.1_5'UTR|SNAP47_ENST00000366760.1_Intron|SNAP47_ENST00000480897.1_3'UTR	p.N379T	NM_023007.2	NP_075383.2	Q9H9V9	JMJD4_HUMAN			6	1135	-		Prostate(94;0.0885)	379					Q5TBZ1|Q5TBZ6|Q9H970	Missense_Mutation	SNP	ENST00000366758.3	37	c.1136A>C	CCDS1561.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	23.5|23.5	4.425935|4.425935	0.83667|0.83667	.|.	.|.	ENSG00000081692|ENSG00000081692	ENST00000366758|ENST00000438896	T|.	0.25579|.	1.79|.	5.01|5.01	5.01|5.01	0.66863|0.66863	.|.	0.098369|.	0.64402|.	D|.	0.000003|.	T|T	0.71728|0.71728	0.3374|0.3374	M|M	0.72118|0.72118	2.19|2.19	0.41621|0.41621	D|D	0.98896|0.98896	D;D|.	0.71674|.	0.997;0.998|.	D;D|.	0.69479|.	0.962;0.964|.	T|T	0.72981|0.72981	-0.4126|-0.4126	10|5	0.33141|.	T|.	0.24|.	-30.4609|-30.4609	12.7331|12.7331	0.57208|0.57208	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	363;379|.	Q9H9V9-2;Q9H9V9|.	.;JMJD4_HUMAN|.	T|P	379|356	ENSP00000355720:N379T|.	ENSP00000355720:N379T|.	N|T	-|-	2|1	0|0	JMJD4|JMJD4	225986972|225986972	1.000000|1.000000	0.71417|0.71417	0.944000|0.944000	0.38274|0.38274	0.987000|0.987000	0.75469|0.75469	6.698000|6.698000	0.74608|0.74608	2.106000|2.106000	0.64143|0.64143	0.533000|0.533000	0.62120|0.62120	AAC|ACT		0.572	JMJD4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000091970.1	NM_023007		8	36	0	0	0	0.00308	0	8	36					G	227920349	T	G	227920349	3	3	164	1	0	0	0	0	1	0	0	0	7951	1725	60	5	259	5	JMJD4	1	227920349	Missense_Mutation	SNP	T	TCGA-G9-6363-01A-21D-1786-08	20787305	227920349	21330272	7	7888											
AHCTF1	25909	broad.mit.edu	37	chr1	247014376	247014376	+	Silent	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gacttttggtcactagttacGgcagatggcaaatttgcaat	11	13	10	7	1	1	1	1	0	0	1	1	2	1	1	0	3	2	4	0	3	4	5			TCGA-G9-6363-01A-21D-1786-08	TCGA-G9-6363-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78cd4d11-912a-4d29-b702-b04b9ad5528f	d0674198-9352-413f-98ab-cce0fa8b47f6	g.chr1:247014376G>C	ENST00000391829.2	-	33	5055	c.4932C>G	c.(4930-4932)gcC>gcG	p.A1644A	AHCTF1_ENST00000326225.3_Silent_p.A1653A|AHCTF1_ENST00000366508.1_Silent_p.A1679A|AHCTF1_ENST00000470300.1_5'UTR			Q8WYP5	ELYS_HUMAN	AT hook containing transcription factor 1	1644	Disordered. {ECO:0000250}.|Mediates transcriptional activity. {ECO:0000250}.|Necessary for nuclear localization. {ECO:0000250}.				cytokinesis (GO:0000910)|mitotic cell cycle (GO:0000278)|mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|protein transport (GO:0015031)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|kinetochore (GO:0000776)|nuclear matrix (GO:0016363)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.A1644A(1)|p.A1653A(1)		NS(1)|breast(6)|cervix(3)|endometrium(8)|kidney(6)|large_intestine(12)|liver(2)|lung(21)|ovary(5)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	74	all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)			CACTAGTTACGGCAGATGGCA	0.363																																					Colon(145;197 1800 4745 15099 26333)	ENST00000366508.1																			2	Substitution - coding silent(2)	p.A1644A(1)|p.A1653A(1)	prostate(2)	NS(1)|breast(6)|cervix(3)|endometrium(8)|kidney(6)|large_intestine(12)|liver(2)|lung(21)|ovary(5)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	74						c.(5035-5037)gcC>gcG		AT hook containing transcription factor 1							116	114	115					1																	247014376		2203	4300	6503	SO:0001819	synonymous_variant	25909				cytokinesis|mitotic prometaphase|mRNA transport|nuclear pore complex assembly|protein transport|transmembrane transport	condensed chromosome kinetochore|cytosol|nuclear matrix|nuclear membrane|nuclear pore|nucleoplasm	DNA binding	g.chr1:247014376G>C		CCDS1629.1, CCDS1629.2	1q44	2008-09-09			ENSG00000153207	ENSG00000153207			24618	protein-coding gene	gene with protein product	"ELYS transcription factor like protein TMBS62"	610853				11952839	Standard	NM_015446		Approved	ELYS	uc001ibv.2	Q8WYP5	OTTHUMG00000040706	ENST00000391829.2:c.4932C>G	1.37:g.247014376G>C						AHCTF1_ENST00000391829.2_Silent_p.A1644A|AHCTF1_ENST00000470300.1_5'UTR|AHCTF1_ENST00000326225.3_Silent_p.A1653A	p.A1679A			Q8WYP5	ELYS_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00271)		33	5173	-	all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	1644			Mediates transcriptional activity (By similarity).|Necessary for nuclear localization (By similarity).		A6NGM0|A8MSG9|A8MZ86|Q7Z4E3|Q8IZA4|Q96EH9|Q9Y4Q6	Silent	SNP	ENST00000391829.2	37	c.5037C>G																																																																																					0.363	AHCTF1-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_015446		7	164	0	0	0	0.001984	0	7	164					C	247014376	G	C	247014376	2	2	164	1	0	0	0	0	0	0	0	1	408	1103	39	5		5	AHCTF1	1	247014376	Silent	SNP	G	TCGA-G9-6363-01A-21D-1786-08	19094027	247014376	2236245	8	7889											
CCDC93	54520	broad.mit.edu	37	chr2	118715997	118715997	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gttcaaggaaatgactttccGgcgatgtagctgggaggttc	9	11	14	7	2	1	1	1	1	0	0	3	4	2	3	1	4	1	4	1	4	3	4	rs200247512		TCGA-G9-6363-01A-21D-1786-08	TCGA-G9-6363-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78cd4d11-912a-4d29-b702-b04b9ad5528f	d0674198-9352-413f-98ab-cce0fa8b47f6	g.chr2:118715997G>C	ENST00000376300.2	-	12	1086	c.949C>G	c.(949-951)Cgg>Ggg	p.R317G	CCDC93_ENST00000319432.5_Missense_Mutation_p.R316G|CCDC93_ENST00000460781.1_5'UTR	NM_019044.4	NP_061917.3	Q567U6	CCD93_HUMAN	coiled-coil domain containing 93	317								p.R317G(2)		breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(2)	29						ATGACTTTCCGGCGATGTAGC	0.398																																						ENST00000376300.2																			2	Substitution - Missense(2)	p.R317G(2)	prostate(1)|breast(1)	breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(2)	29						c.(949-951)Cgg>Ggg		coiled-coil domain containing 93							125	109	114					2																	118715997		2203	4300	6503	SO:0001583	missense	54520							g.chr2:118715997G>C	BC028609	CCDS2121.2	2q14.1	2008-02-05			ENSG00000125633	ENSG00000125633			25611	protein-coding gene	gene with protein product						12477932	Standard	NM_019044		Approved	FLJ10996	uc002tlj.3	Q567U6	OTTHUMG00000058517	ENST00000376300.2:c.949C>G	2.37:g.118715997G>C	ENSP00000365477:p.Arg317Gly					CCDC93_ENST00000319432.5_Missense_Mutation_p.R316G|CCDC93_ENST00000460781.1_5'UTR	p.R317G	NM_019044.4	NP_061917.3	Q567U6	CCD93_HUMAN			12	1086	-			317					A8K3V7|Q4LE78|Q53TJ2|Q8TBX5|Q9H6R5|Q9NV15	Missense_Mutation	SNP	ENST00000376300.2	37	c.949C>G	CCDS2121.2	.	.	.	.	.	.	.	.	.	.	G	12.37	1.919036	0.33908	.	.	ENSG00000125633	ENST00000376300;ENST00000319432	T;T	0.24151	1.87;1.88	5.33	5.33	0.75918	.	0.124524	0.51477	D	0.000096	T	0.43077	0.1231	L	0.53249	1.67	0.35884	D	0.829154	D	0.69078	0.997	D	0.63793	0.918	T	0.44436	-0.9328	10	0.41790	T	0.15	-1.4156	14.4662	0.67485	0.0:0.0:1.0:0.0	.	317	Q567U6	CCD93_HUMAN	G	317;316	ENSP00000365477:R317G;ENSP00000324135:R316G	ENSP00000324135:R316G	R	-	1	2	CCDC93	118432467	0.989000	0.36119	0.989000	0.46669	0.138000	0.21146	2.782000	0.47758	2.789000	0.95967	0.558000	0.71614	CGG		0.398	CCDC93-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000129615.1	NM_019044		14	42	0	0	0	0.00245	0	14	42					C	118715997	G	C	118715997	3	2	164	1	0	0	0	0	1	0	0	0	2872	1115	39	5	998	5	CCDC93	2	118715997	Missense_Mutation	SNP	G	TCGA-G9-6363-01A-21D-1786-08		118715997	124483376	9	7890											
YSK4	80122	broad.mit.edu	37	chr2	135743788	135743788	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctagatcattagttaaaattCggctggcatttactttacta	12	16	6	7	1	1	1	1	0	0	1	2	1	1	1	0	2	2	3	0	2	7	9	rs140658941	byFrequency	TCGA-G9-6363-01A-21D-1786-08	TCGA-G9-6363-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78cd4d11-912a-4d29-b702-b04b9ad5528f	d0674198-9352-413f-98ab-cce0fa8b47f6	g.chr2:135743788C>A	ENST00000375845.3	-	7	2684	c.2654G>T	c.(2653-2655)cGa>cTa	p.R885L	MAP3K19_ENST00000392918.3_Intron|MAP3K19_ENST00000392915.1_Missense_Mutation_p.R902L|MAP3K19_ENST00000375844.3_Intron|MAP3K19_ENST00000392917.3_Intron|MAP3K19_ENST00000315513.3_5'UTR|MAP3K19_ENST00000358371.4_Missense_Mutation_p.R772L	NM_001018044.2|NM_025052.3	NP_001018054.1|NP_079328.3	Q56UN5	M3K19_HUMAN	mitogen-activated protein kinase kinase kinase 19	885							ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.R885Q(1)|p.R237L(1)|p.R885L(1)|p.R237Q(1)									AGTTAAAATTCGGCTGGCATT	0.378																																						ENST00000375845.3																			4	Substitution - Missense(4)	p.R885Q(1)|p.R237L(1)|p.R885L(1)|p.R237Q(1)	large_intestine(2)|prostate(2)								c.(2653-2655)cGa>cTa		mitogen-activated protein kinase kinase kinase 19							83	85	85					2																	135743788		2203	4300	6503	SO:0001583	missense	80122							g.chr2:135743788C>A	AK026727	CCDS2176.2, CCDS33293.1, CCDS63021.1, CCDS63020.1, CCDS63022.1	2q21.3	2012-10-16	2012-10-16	2012-10-16	ENSG00000176601	ENSG00000176601		"Mitogen-activated protein kinase cascade / Kinase kinase kinases"	26249	protein-coding gene	gene with protein product			"Yeast Sps1/Ste20-related kinase 4 (S. cerevisiae)", "yeast Sps1/Ste20-related kinase 4 (S. cerevisiae)", "YSK4 Sps1/Ste20-related kinase homolog (S. cerevisiae)"	YSK4		12477932	Standard	NM_001282883		Approved	FLJ23074	uc002tue.1	Q56UN5	OTTHUMG00000074083	ENST00000375845.3:c.2654G>T	2.37:g.135743788C>A	ENSP00000365005:p.Arg885Leu					MAP3K19_ENST00000375844.3_Intron|MAP3K19_ENST00000315513.3_5'UTR|MAP3K19_ENST00000358371.4_Missense_Mutation_p.R772L|MAP3K19_ENST00000392918.3_Intron|MAP3K19_ENST00000392915.1_Missense_Mutation_p.R902L|MAP3K19_ENST00000392917.3_Intron	p.R885L	NM_025052.3	NP_079328.3					7	2684	-								B2RP57|B7ZMH9|E2QRE3|Q56UN1|Q56UN2|Q56UN3|Q56UN4|Q8N4E9|Q9H5T2	Missense_Mutation	SNP	ENST00000375845.3	37	c.2654G>T	CCDS2176.2	.	.	.	.	.	.	.	.	.	.	C	1.248	-0.619331	0.03663	.	.	ENSG00000176601	ENST00000375845;ENST00000358371;ENST00000392915;ENST00000437365	T;T;T;T	0.72615	-0.54;-0.53;1.81;-0.67	4.86	1.1	0.20463	.	0.480060	0.17580	N	0.169151	T	0.49626	0.1568	N	0.22421	0.69	0.09310	N	0.999997	B;B;B	0.31383	0.321;0.074;0.133	B;B;B	0.26094	0.066;0.029;0.018	T	0.35943	-0.9768	10	0.48119	T	0.1	.	6.1132	0.20112	0.0:0.0958:0.163:0.7412	.	772;902;885	Q56UN5-3;A8MWG7;Q56UN5	.;.;YSK4_HUMAN	L	885;772;902;275	ENSP00000365005:R885L;ENSP00000351140:R772L;ENSP00000376647:R902L;ENSP00000392827:R275L	ENSP00000351140:R772L	R	-	2	0	YSK4	135460258	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.267000	0.08619	0.034000	0.15491	-1.280000	0.01385	CGA		0.378	MAP3K19-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000158244.1	NM_025052		11	66	1	0	9.70103e-10	0.008291	1.66303e-09	11	66					A	135743788	C	A	135743788	3	1	164	1	0	0	0	0	1	0	0	0	17492	884	31	5	1348	5	YSK4	2	135743788	Missense_Mutation	SNP	C	TCGA-G9-6363-01A-21D-1786-08	17027791	135743788	107455585	10	7891											
TTN	7273	broad.mit.edu	37	chr2	179537132	179537132	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tccaggatctttccaaaaatAcctttagctgggggaacagc	12	10	9	10	0	1	0	0	0	1	0	3	2	3	2	3	3	4	1	3	3	5	4			TCGA-G9-6363-01A-21D-1786-08	TCGA-G9-6363-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78cd4d11-912a-4d29-b702-b04b9ad5528f	d0674198-9352-413f-98ab-cce0fa8b47f6	g.chr2:179537132A>G	ENST00000591111.1	-	150	34033		c.e150+1		TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000589042.1_Splice_Site|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000342992.6_Splice_Site|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000589830.1_RNA			Q8WZ42	TITIN_HUMAN	titin						adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.?(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTCCAAAAATACCTTTAGCTG	0.328																																						ENST00000589042.1																			1	Unknown(1)	p.?(1)	prostate(1)	NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.e154+1		titin							155	158	157					2																	179537132		1823	4068	5891	SO:0001630	splice_region_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179537132A>G	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.33808+1T>C	2.37:g.179537132A>G						TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Splice_Site|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000591111.1_Splice_Site|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000585451.1_RNA		NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		154	35155	-								A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Splice_Site	SNP	ENST00000591111.1	37			.	.	.	.	.	.	.	.	.	.	A	17.86	3.493204	0.64186	.	.	ENSG00000155657	ENST00000342992	.	.	.	5.43	5.43	0.79202	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.7672	0.78135	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TTN	179245377	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	4.357000	0.59436	2.183000	0.69458	0.528000	0.53228	.		0.328	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	Intron	10	264	0	0	0	0.006214	0	10	264					G	179537132	A	G	179537132	5	3	164	1	0	0	0	0	0	0	1	0	16732	405	14	4	69612	4	TTN	2	179537132	Splice_Site	SNP	A	TCGA-G9-6363-01A-21D-1786-08	43793344	179537132	63662241	11	7892											
ANKRD28	23243	broad.mit.edu	37	chr3	15727591	15727591	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaatgagtaaacacagtctGtgtgcccgttgagaacagat	13	9	11	8	1	1	3	0	2	1	2	1	4	1	3	1	0	3	3	1	0	4	2			TCGA-G9-6363-01A-21D-1786-08	TCGA-G9-6363-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78cd4d11-912a-4d29-b702-b04b9ad5528f	d0674198-9352-413f-98ab-cce0fa8b47f6	g.chr3:15727591G>C	ENST00000399451.2	-	20	2364	c.1997C>G	c.(1996-1998)aCa>aGa	p.T666R	ANKRD28_ENST00000383777.1_Missense_Mutation_p.T699R|ANKRD28_ENST00000497037.1_5'UTR	NM_001195098.1|NM_001195099.1|NM_015199.3	NP_001182027.1|NP_001182028.1|NP_056014.2	O15084	ANR28_HUMAN	ankyrin repeat domain 28	666						nucleus (GO:0005634)		p.T133R(1)|p.T699R(1)		breast(2)|endometrium(1)|large_intestine(2)|prostate(1)	6						AACACAGTCTGTGTGCCCGTT	0.458																																						ENST00000399451.2																			2	Substitution - Missense(2)	p.T133R(1)|p.T699R(1)	prostate(2)	breast(2)|endometrium(1)|large_intestine(2)|prostate(1)	6						c.(1996-1998)aCa>aGa		ankyrin repeat domain 28							114	102	106					3																	15727591		2010	4177	6187	SO:0001583	missense	23243					nucleoplasm	protein binding	g.chr3:15727591G>C	AY367056	CCDS46769.1, CCDS74908.1	3p25.1	2013-01-10			ENSG00000206560	ENSG00000206560		"Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits", "Ankyrin repeat domain containing"	29024	protein-coding gene	gene with protein product	"phosphatase interactor targeting K protein", "protein phosphatase 6 ankyrin repeat subunit A", "protein phosphatase 1, regulatory subunit 65"	611122				9205841	Standard	NM_015199		Approved	KIAA0379, PITK, PP6-ARS-A, PPP1R65	uc003caj.1	O15084	OTTHUMG00000155379	ENST00000399451.2:c.1997C>G	3.37:g.15727591G>C	ENSP00000382379:p.Thr666Arg					ANKRD28_ENST00000497037.1_5'UTR|ANKRD28_ENST00000383777.1_Missense_Mutation_p.T699R	p.T666R	NM_001195098.1|NM_001195099.1|NM_015199.3	NP_001182027.1|NP_001182028.1|NP_056014.2	O15084	ANR28_HUMAN			20	2364	-			666					B4DES5|Q1WWL4|Q29RW6|Q3B857|Q6ULS0|Q6ZT57	Missense_Mutation	SNP	ENST00000399451.2	37	c.1997C>G	CCDS46769.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.081089	0.76528	.	.	ENSG00000206560	ENST00000399451;ENST00000383777;ENST00000412318	T;T;T	0.15834	2.39;2.41;2.39	5.54	5.54	0.83059	Ankyrin repeat-containing domain (4);	0.149179	0.64402	D	0.000012	T	0.14830	0.0358	N	0.19112	0.55	0.80722	D	1	B;B;B	0.28082	0.2;0.151;0.071	B;B;B	0.29176	0.06;0.05;0.099	T	0.07347	-1.0777	10	0.36615	T	0.2	.	19.4692	0.94956	0.0:0.0:1.0:0.0	.	699;696;666	O15084-1;O15084-4;O15084	.;.;ANR28_HUMAN	R	666;699;666	ENSP00000382379:T666R;ENSP00000373287:T699R;ENSP00000397341:T666R	ENSP00000373287:T699R	T	-	2	0	ANKRD28	15702595	1.000000	0.71417	0.998000	0.56505	0.991000	0.79684	9.813000	0.99286	2.596000	0.87737	0.591000	0.81541	ACA		0.458	ANKRD28-003	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000339758.1	NM_015199		4	22	0	0	0	0.000248	0	4	22					C	15727591	G	C	15727591	3	2	164	1	0	0	0	0	1	0	0	0	656	1377	48	5	1200	5	ANKRD28	3	15727591	Missense_Mutation	SNP	G	TCGA-G9-6363-01A-21D-1786-08		15727591	182294839	12	7893											
OR5H14	403273	broad.mit.edu	37	chr3	97868429	97868429	+	Frame_Shift_Del	DEL	C	C	-																															cttactccttgggaatttagCttttgtggatgctttgttat																										TCGA-G9-6363-01A-21D-1786-08	TCGA-G9-6363-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78cd4d11-912a-4d29-b702-b04b9ad5528f	d0674198-9352-413f-98ab-cce0fa8b47f6	g.chr3:97868429delC	ENST00000437310.1	+	1	260	c.200delC	c.(199-201)gctfs	p.A67fs	RP11-343D2.11_ENST00000508964.1_RNA	NM_001005514.1	NP_001005514.1	A6NHG9	O5H14_HUMAN	olfactory receptor, family 5, subfamily H, member 14	67						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	31						GGGAATTTAGCTTTTGTGGAT	0.398																																						ENST00000437310.1																			0				breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	31						c.(199-201)gtfs		olfactory receptor, family 5, subfamily H, member 14							312	315	314					3																	97868429		2203	4300	6503	SO:0001589	frameshift_variant	403273				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr3:97868429delC		CCDS33798.1	3q11.2	2013-09-23			ENSG00000236032	ENSG00000236032		"GPCR / Class A : Olfactory receptors"	31286	protein-coding gene	gene with protein product							Standard	NM_001005514		Approved		uc003dsg.1	A6NHG9	OTTHUMG00000160079	ENST00000437310.1:c.200delC	3.37:g.97868429delC	ENSP00000401706:p.Ala67fs						p.A67fs	NM_001005514.1	NP_001005514.1	A6NHG9	O5H14_HUMAN			1	260	+			67					B9EH15	Frame_Shift_Del	DEL	ENST00000437310.1	37	c.200delC	CCDS33798.1																																																																																				0.398	OR5H14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359112.1			10	296						10	296	---	---	---	---	-	97868429	C	-	97868429	7	5	164	1	0	1	0	1	0	0	0	0	11160	797	28	0	202	0	OR5H14	3	97868429	Frame_Shift_Del	DEL	C	TCGA-G9-6363-01A-21D-1786-08	82140838	97868429	100154001	13	7894											
PARP14	54625	broad.mit.edu	37	chr3	122418827	122418827	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaaaaatgatcatttctccaGgcaggtattttcttttgtgt	11	17	7	6	0	3	1	1	1	2	0	4	1	3	1	1	2	0	2	1	2	4	6			TCGA-G9-6363-01A-21D-1786-08	TCGA-G9-6363-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78cd4d11-912a-4d29-b702-b04b9ad5528f	d0674198-9352-413f-98ab-cce0fa8b47f6	g.chr3:122418827G>A	ENST00000474629.2	+	6	1692	c.1426G>A	c.(1426-1428)Ggc>Agc	p.G476S		NM_017554.2	NP_060024.2	Q460N5	PAR14_HUMAN	poly (ADP-ribose) polymerase family, member 14	476					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	NAD+ ADP-ribosyltransferase activity (GO:0003950)	p.G313S(1)|p.G476S(1)		NS(2)|breast(5)|cervix(2)|endometrium(7)|kidney(5)|large_intestine(8)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	50				GBM - Glioblastoma multiforme(114;0.0531)		CATTTCTCCAGGCAGGTATTT	0.398																																						ENST00000474629.2																			2	Substitution - Missense(2)	p.G313S(1)|p.G476S(1)	prostate(2)	NS(2)|breast(5)|cervix(2)|endometrium(7)|kidney(5)|large_intestine(8)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	50						c.(1426-1428)Ggc>Agc		poly (ADP-ribose) polymerase family, member 14							79	72	74					3																	122418827		1836	4079	5915	SO:0001583	missense	54625				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	NAD+ ADP-ribosyltransferase activity	g.chr3:122418827G>A	AB033094	CCDS46894.1	3q21	2010-02-16			ENSG00000173193	ENSG00000173193		"Poly (ADP-ribose) polymerases"	29232	protein-coding gene	gene with protein product		610028				15273990	Standard	NM_017554		Approved	KIAA1268, pART8	uc003efq.4	Q460N5	OTTHUMG00000159552	ENST00000474629.2:c.1426G>A	3.37:g.122418827G>A	ENSP00000418194:p.Gly476Ser						p.G476S	NM_017554.2	NP_060024.2	Q460N5	PAR14_HUMAN		GBM - Glioblastoma multiforme(114;0.0531)	6	1692	+			476					B4E2H0|Q460N4|Q8J027|Q9H9X9|Q9NV60|Q9ULF2	Missense_Mutation	SNP	ENST00000474629.2	37	c.1426G>A	CCDS46894.1	.	.	.	.	.	.	.	.	.	.	G	3.617	-0.078446	0.07184	.	.	ENSG00000173193	ENST00000474629;ENST00000398162	T	0.08807	3.05	5.32	2.47	0.30058	.	0.541551	0.17685	N	0.165474	T	0.05868	0.0153	L	0.38531	1.155	0.09310	N	1	B;P	0.37122	0.084;0.583	B;B	0.29942	0.037;0.109	T	0.34030	-0.9845	10	0.35671	T	0.21	.	7.8369	0.29376	0.2736:0.0:0.7264:0.0	.	476;476	Q460N5-4;Q460N5	.;PAR14_HUMAN	S	476;395	ENSP00000418194:G476S	ENSP00000381228:G395S	G	+	1	0	PARP14	123901517	0.006000	0.16342	0.002000	0.10522	0.009000	0.06853	1.131000	0.31406	0.338000	0.23692	-0.345000	0.07892	GGC		0.398	PARP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356173.2	NM_017554		10	58	0	0	0	0.006214	0	10	58					A	122418827	G	A	122418827	3	1	164	1	0	0	0	0	1	0	0	0	11458	1000	35	3	1448	3	PARP14	3	122418827	Missense_Mutation	SNP	G	TCGA-G9-6363-01A-21D-1786-08	24550398	122418827	75603603	14	7895											
TBCK	93627	broad.mit.edu	37	chr4	107216263	107216263	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tacagtacctcacaggtttcCtttctcgaagcaagtcttcc	9	13	6	13	1	3	0	1	0	2	0	6	1	5	0	3	1	3	3	3	1	4	5			TCGA-G9-6363-01A-21D-1786-08	TCGA-G9-6363-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78cd4d11-912a-4d29-b702-b04b9ad5528f	d0674198-9352-413f-98ab-cce0fa8b47f6	g.chr4:107216263C>G	ENST00000273980.5	-	4	701	c.254G>C	c.(253-255)aGg>aCg	p.R85T	TBCK_ENST00000394706.3_Missense_Mutation_p.R85T|TBCK_ENST00000394708.2_Missense_Mutation_p.R85T|TBCK_ENST00000361687.4_Missense_Mutation_p.R85T|TBCK_ENST00000432496.2_Missense_Mutation_p.R85T					TBC1 domain containing kinase									p.R85T(2)		NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)	25						CACAGGTTTCCTTTCTCGAAG	0.378																																						ENST00000273980.4																			2	Substitution - Missense(2)	p.R85T(2)	prostate(2)	NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)	25						c.(253-255)aGg>aCg		TBC1 domain containing kinase							121	121	121					4																	107216263		2203	4300	6503	SO:0001583	missense	93627					intracellular	Rab GTPase activator activity	g.chr4:107216263C>G		CCDS3673.1, CCDS54788.1, CCDS54789.1	4q24	2014-09-17			ENSG00000145348	ENSG00000145348			28261	protein-coding gene	gene with protein product						12471243	Standard	XR_427553		Approved	MGC16169, HSPC302	uc010ilv.2	Q8TEA7	OTTHUMG00000131214	ENST00000273980.5:c.254G>C	4.37:g.107216263C>G	ENSP00000273980:p.Arg85Thr					TBCK_ENST00000394706.3_Missense_Mutation_p.R85T|TBCK_ENST00000394708.2_Missense_Mutation_p.R85T|TBCK_ENST00000361687.4_Missense_Mutation_p.R85T|TBCK_ENST00000432496.2_Missense_Mutation_p.R85T	p.R85T			Q8TEA7	TBCK_HUMAN			4	701	-			85			Protein kinase.			Missense_Mutation	SNP	ENST00000273980.5	37	c.254G>C	CCDS54788.1	.	.	.	.	.	.	.	.	.	.	C	13.68	2.310314	0.40895	.	.	ENSG00000145348	ENST00000273980;ENST00000432496;ENST00000361687;ENST00000394706;ENST00000394708;ENST00000509532;ENST00000509862	T;T;T;T;T;T;T	0.07800	3.16;3.16;3.16;3.16;3.16;3.16;3.16	4.7	4.7	0.59300	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.208477	0.49916	D	0.000126	T	0.08935	0.0221	L	0.39397	1.21	0.33724	D	0.617421	B;B;B	0.32283	0.016;0.103;0.362	B;B;B	0.28305	0.038;0.088;0.088	T	0.12477	-1.0546	10	0.44086	T	0.13	.	16.1641	0.81743	0.0:1.0:0.0:0.0	.	85;85;85	Q8TEA7;Q8TEA7-2;Q8TEA7-3	TBCK_HUMAN;.;.	T	85	ENSP00000273980:R85T;ENSP00000405847:R85T;ENSP00000355338:R85T;ENSP00000378196:R85T;ENSP00000378198:R85T;ENSP00000420985:R85T;ENSP00000425197:R85T	ENSP00000273980:R85T	R	-	2	0	TBCK	107435712	0.999000	0.42202	1.000000	0.80357	0.940000	0.58332	4.792000	0.62467	2.326000	0.78906	0.460000	0.39030	AGG		0.378	TBCK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253953.4	NM_033115		36	137	0	0	0	0.00874	0	36	137					G	107216263	C	G	107216263	3	3	164	1	0	0	0	0	1	0	0	0	15633	681	24	5	2523	5	TBCK	4	107216263	Missense_Mutation	SNP	C	TCGA-G9-6363-01A-21D-1786-08		107216263	83938013	15	7896											
WWC2	80014	broad.mit.edu	37	chr4	184182184	184182184	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccctcagttccaccgaactcTattacagcagtcaaagtgat	12	10	6	13	1	3	1	2	1	1	0	4	2	4	1	3	0	3	2	3	0	4	3			TCGA-G9-6363-01A-21D-1786-08	TCGA-G9-6363-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78cd4d11-912a-4d29-b702-b04b9ad5528f	d0674198-9352-413f-98ab-cce0fa8b47f6	g.chr4:184182184T>C	ENST00000403733.3	+	11	1607	c.1408T>C	c.(1408-1410)Tat>Cat	p.Y470H	WWC2_ENST00000448232.2_Missense_Mutation_p.Y470H|WWC2_ENST00000504005.1_Missense_Mutation_p.Y152H|WWC2_ENST00000378925.3_Missense_Mutation_p.Y372H|WWC2_ENST00000513834.1_Missense_Mutation_p.Y470H	NM_024949.5	NP_079225.5	Q6AWC2	WWC2_HUMAN	WW and C2 domain containing 2	470	Ser-rich.				negative regulation of hippo signaling (GO:0035331)|negative regulation of organ growth (GO:0046621)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	cytosol (GO:0005829)	kinase binding (GO:0019900)|protein complex scaffold (GO:0032947)	p.Y470H(1)		NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(15)|ovary(2)|prostate(1)|stomach(1)|urinary_tract(3)	32		all_lung(41;5.28e-14)|Lung NSC(41;1.35e-13)|Colorectal(36;0.00681)|Hepatocellular(41;0.00886)|Renal(120;0.00992)|Prostate(90;0.0237)|all_hematologic(60;0.0592)|Esophageal squamous(56;0.179)|all_neural(102;0.202)		all cancers(43;3.38e-24)|Epithelial(43;1.4e-20)|OV - Ovarian serous cystadenocarcinoma(60;1.09e-09)|GBM - Glioblastoma multiforme(59;3.33e-05)|Colorectal(24;3.58e-05)|STAD - Stomach adenocarcinoma(60;4.21e-05)|COAD - Colon adenocarcinoma(29;0.000171)|LUSC - Lung squamous cell carcinoma(40;0.0145)|READ - Rectum adenocarcinoma(43;0.242)		CACCGAACTCTATTACAGCAG	0.502																																						ENST00000403733.3																			1	Substitution - Missense(1)	p.Y470H(1)	prostate(1)	NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(15)|ovary(2)|prostate(1)|stomach(1)|urinary_tract(3)	32						c.(1408-1410)Tat>Cat		WW and C2 domain containing 2							79	76	77					4																	184182184		2203	4300	6503	SO:0001583	missense	80014							g.chr4:184182184T>C	BC017957	CCDS34109.2	4q35.1	2010-08-05	2006-11-09		ENSG00000151718	ENSG00000151718		"WW, C2 and coiled-coil domain containing"	24148	protein-coding gene	gene with protein product			"WW, C2 and coiled-coil domain containing 2"			12477932	Standard	NM_024949		Approved	BOMB, FLJ22029	uc010irx.3	Q6AWC2	OTTHUMG00000150685	ENST00000403733.3:c.1408T>C	4.37:g.184182184T>C	ENSP00000384222:p.Tyr470His					WWC2_ENST00000513834.1_Missense_Mutation_p.Y470H|WWC2_ENST00000378925.3_Missense_Mutation_p.Y372H|WWC2_ENST00000504005.1_Missense_Mutation_p.Y152H|WWC2_ENST00000448232.2_Missense_Mutation_p.Y470H	p.Y470H	NM_024949.5	NP_079225.5	Q6AWC2	WWC2_HUMAN		all cancers(43;3.38e-24)|Epithelial(43;1.4e-20)|OV - Ovarian serous cystadenocarcinoma(60;1.09e-09)|GBM - Glioblastoma multiforme(59;3.33e-05)|Colorectal(24;3.58e-05)|STAD - Stomach adenocarcinoma(60;4.21e-05)|COAD - Colon adenocarcinoma(29;0.000171)|LUSC - Lung squamous cell carcinoma(40;0.0145)|READ - Rectum adenocarcinoma(43;0.242)	11	1607	+		all_lung(41;5.28e-14)|Lung NSC(41;1.35e-13)|Colorectal(36;0.00681)|Hepatocellular(41;0.00886)|Renal(120;0.00992)|Prostate(90;0.0237)|all_hematologic(60;0.0592)|Esophageal squamous(56;0.179)|all_neural(102;0.202)	470			Ser-rich.		Q32Q84|Q69YQ1|Q6AWB8|Q6ZSY9|Q6ZU09|Q7Z620|Q8TEB8|Q9H6P0	Missense_Mutation	SNP	ENST00000403733.3	37	c.1408T>C	CCDS34109.2	.	.	.	.	.	.	.	.	.	.	T	15.97	2.990502	0.54041	.	.	ENSG00000151718	ENST00000403733;ENST00000378925;ENST00000513834;ENST00000448232;ENST00000504005	T;T;T;T;T	0.44083	0.93;0.93;0.93;0.93;0.93	4.86	4.86	0.63082	.	0.000000	0.64402	D	0.000006	T	0.68412	0.2998	M	0.86651	2.83	0.53688	D	0.999973	D;D	0.89917	1.0;1.0	D;D	0.91635	0.997;0.999	T	0.74362	-0.3690	10	0.56958	D	0.05	-15.8765	14.628	0.68635	0.0:0.0:0.0:1.0	.	470;470	Q6AWC2;Q6AWC2-4	WWC2_HUMAN;.	H	470;372;470;470;152	ENSP00000384222:Y470H;ENSP00000368205:Y372H;ENSP00000425054:Y470H;ENSP00000398577:Y470H;ENSP00000427569:Y152H	ENSP00000368205:Y372H	Y	+	1	0	WWC2	184419178	1.000000	0.71417	0.904000	0.35570	0.055000	0.15305	7.833000	0.86765	2.046000	0.60703	0.528000	0.53228	TAT		0.502	WWC2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319608.1	NM_024949		3	55	0	0	0	0.004672	0	3	55					C	184182184	T	C	184182184	3	2	164	1	0	0	0	0	1	0	0	0	17409	1522	53	4	1450	4	WWC2	4	184182184	Missense_Mutation	SNP	T	TCGA-G9-6363-01A-21D-1786-08	76965921	184182184	6972092	16	7897											
RBM27	54439	broad.mit.edu	37	chr5	145641192	145641192	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cgattcattcgagtcttgtgGcatagggaaaataatgagca	13	11	11	6	2	2	1	1	1	1	0	3	4	2	2	0	2	1	2	0	2	4	5			TCGA-G9-6363-01A-21D-1786-08	TCGA-G9-6363-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78cd4d11-912a-4d29-b702-b04b9ad5528f	d0674198-9352-413f-98ab-cce0fa8b47f6	g.chr5:145641192G>A	ENST00000265271.5	+	13	2179	c.2013G>A	c.(2011-2013)tgG>tgA	p.W671*	RBM27_ENST00000506502.1_Nonsense_Mutation_p.W616*	NM_018989.1	NP_061862.1	Q9P2N5	RBM27_HUMAN	RNA binding motif protein 27	671	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA processing (GO:0006397)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.W671*(1)		NS(2)|breast(1)|central_nervous_system(3)|endometrium(4)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	39			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GAGTCTTGTGGCATAGGGAAA	0.478																																						ENST00000265271.5																			1	Substitution - Nonsense(1)	p.W671*(1)	prostate(1)	NS(2)|breast(1)|central_nervous_system(3)|endometrium(4)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	39						c.(2011-2013)tgG>tgA		RNA binding motif protein 27							169	152	158					5																	145641192		1568	3582	5150	SO:0001587	stop_gained	54439				mRNA processing	cytoplasm|nuclear speck	nucleotide binding|RNA binding|zinc ion binding	g.chr5:145641192G>A	AL833706	CCDS43378.1	5q32	2013-01-09				ENSG00000091009		"Zinc fingers, CCCH-type domain containing", "RNA binding motif (RRM) containing"	29243	protein-coding gene	gene with protein product	"acidic rich RS domain containing 1"					10718198, 15741184	Standard	NM_018989		Approved	KIAA1311, ARRS1, Psc1, ZC3H18	uc003lnz.4	Q9P2N5		ENST00000265271.5:c.2013G>A	5.37:g.145641192G>A	ENSP00000265271:p.Trp671*					RBM27_ENST00000506502.1_Nonsense_Mutation_p.W616*	p.W671*	NM_018989.1	NP_061862.1	Q9P2N5	RBM27_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		13	2179	+			671			RRM.		Q8IYW9	Nonsense_Mutation	SNP	ENST00000265271.5	37	c.2013G>A	CCDS43378.1	.	.	.	.	.	.	.	.	.	.	G	41	8.870053	0.98984	.	.	ENSG00000091009	ENST00000265271	.	.	.	5.5	5.5	0.81552	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-4.7965	19.3994	0.94621	0.0:0.0:1.0:0.0	.	.	.	.	X	671	.	ENSP00000265271:W671X	W	+	3	0	RBM27	145621385	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.476000	0.97823	2.593000	0.87608	0.561000	0.74099	TGG		0.478	RBM27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373420.1	XM_291128		5	158	0	0	0	0.000602	0	5	158					A	145641192	G	A	145641192	4	1	164	1	0	0	0	0	0	1	0	0	13127	1212	42	3	2063	3	RBM27	5	145641192	Nonsense_Mutation	SNP	G	TCGA-G9-6363-01A-21D-1786-08		145641192	35274068	17	7898											
EXOC2	55770	broad.mit.edu	37	chr6	497413	497413	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atgaaacacactgcatcagtCgactgagctcttcagaaact	14	9	7	11	1	3	3	2	2	1	1	4	4	3	3	0	0	4	2	0	0	2	1			TCGA-G9-6363-01A-21D-1786-08	TCGA-G9-6363-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78cd4d11-912a-4d29-b702-b04b9ad5528f	d0674198-9352-413f-98ab-cce0fa8b47f6	g.chr6:497413C>T	ENST00000230449.4	-	25	2648	c.2513G>A	c.(2512-2514)cGa>cAa	p.R838Q	EXOC2_ENST00000448181.3_Missense_Mutation_p.R433Q	NM_018303.5	NP_060773.3	Q96KP1	EXOC2_HUMAN	exocyst complex component 2	838					cellular protein metabolic process (GO:0044267)|exocytosis (GO:0006887)|Golgi to plasma membrane transport (GO:0006893)|membrane organization (GO:0061024)|protein transport (GO:0015031)	exocyst (GO:0000145)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886)		p.R838Q(1)		breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|liver(1)|lung(16)|ovary(4)|pancreas(1)|prostate(2)	46	Ovarian(93;0.0733)	Breast(5;0.0014)|all_lung(73;0.0697)|all_hematologic(90;0.0897)		OV - Ovarian serous cystadenocarcinoma(45;0.0507)|BRCA - Breast invasive adenocarcinoma(62;0.14)		CTGCATCAGTCGACTGAGCTC	0.388																																						ENST00000230449.4																			1	Substitution - Missense(1)	p.R838Q(1)	prostate(1)	breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|liver(1)|lung(16)|ovary(4)|pancreas(1)|prostate(2)	46						c.(2512-2514)cGa>cAa		exocyst complex component 2							127	124	125					6																	497413		2203	4300	6503	SO:0001583	missense	55770				exocytosis|protein transport			g.chr6:497413C>T	AJ420556	CCDS34327.1	6p25.3	2013-01-22	2005-11-01	2005-11-01	ENSG00000112685	ENSG00000112685			24968	protein-coding gene	gene with protein product		615329	"SEC5-like 1 (S. cerevisiae)"	SEC5L1		12575951, 12459492	Standard	NM_018303		Approved	FLJ11026, Sec5p	uc003mtd.4	Q96KP1	OTTHUMG00000137437	ENST00000230449.4:c.2513G>A	6.37:g.497413C>T	ENSP00000230449:p.Arg838Gln					EXOC2_ENST00000448181.3_Missense_Mutation_p.R433Q	p.R838Q	NM_018303.4	NP_060773.3	Q96KP1	EXOC2_HUMAN		OV - Ovarian serous cystadenocarcinoma(45;0.0507)|BRCA - Breast invasive adenocarcinoma(62;0.14)	25	2648	-	Ovarian(93;0.0733)	Breast(5;0.0014)|all_lung(73;0.0697)|all_hematologic(90;0.0897)	838					B2RBE6|Q5JPC8|Q96AN6|Q9NUZ8|Q9UJM7	Missense_Mutation	SNP	ENST00000230449.4	37	c.2513G>A	CCDS34327.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.033394	0.75504	.	.	ENSG00000112685	ENST00000230449;ENST00000448181	T;T	0.40476	1.03;1.03	6.06	5.18	0.71444	.	0.000000	0.85682	D	0.000000	T	0.57666	0.2069	M	0.78049	2.395	0.47819	D	0.999522	D	0.89917	1.0	D	0.83275	0.996	T	0.61520	-0.7046	10	0.41790	T	0.15	-16.2415	16.655	0.85226	0.1308:0.8692:0.0:0.0	.	838	Q96KP1	EXOC2_HUMAN	Q	838;433	ENSP00000230449:R838Q;ENSP00000398113:R433Q	ENSP00000230449:R838Q	R	-	2	0	EXOC2	442413	1.000000	0.71417	0.009000	0.14445	0.379000	0.30106	7.487000	0.81328	1.530000	0.49136	0.650000	0.86243	CGA		0.388	EXOC2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039627.1	NM_018303		22	90	0	0	0	0.00278	0	22	90					T	497413	C	T	497413	3	4	164	1	0	0	0	0	1	0	0	0	5302	884	31	2	277	2	EXOC2	6	497413	Missense_Mutation	SNP	C	TCGA-G9-6363-01A-21D-1786-08		497413	170617654	18	7899											
HIST1H3G	8355	broad.mit.edu	37	chr6	26271452	26271452	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gctcagtcgacttctgatagCggcgaatctcgcgcagagcc	8	8	12	13	5	3	2	1	1	2	1	5	4	3	2	1	1	2	2	1	1	2	2			TCGA-G9-6363-01A-21D-1786-08	TCGA-G9-6363-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78cd4d11-912a-4d29-b702-b04b9ad5528f	d0674198-9352-413f-98ab-cce0fa8b47f6	g.chr6:26271452C>T	ENST00000305910.3	-	1	160	c.161G>A	c.(160-162)cGc>cAc	p.R54H	HIST1H2BI_ENST00000377733.2_5'Flank	NM_003534.2	NP_003525.1	P68431	H31_HUMAN	histone cluster 1, H3g	54					blood coagulation (GO:0007596)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|regulation of gene silencing (GO:0060968)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)	p.R54H(1)		breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	12						CTTCTGATAGCGGCGAATCTC	0.607																																						ENST00000305910.3																			1	Substitution - Missense(1)	p.R54H(1)	prostate(1)	breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	12						c.(160-162)cGc>cAc		histone cluster 1, H3g							65	69	67					6																	26271452		2203	4300	6503	SO:0001583	missense	8355				blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding	g.chr6:26271452C>T	Z80785	CCDS4602.1	6p22.1	2011-07-22	2006-10-11	2003-03-14	ENSG00000256018			"Histones / Replication-dependent"	4772	protein-coding gene	gene with protein product		602815	"H3 histone family, member H", "histone 1, H3g"	H3FH		9119399, 12408966	Standard	NM_003534		Approved	H3/h	uc003nhi.3	P68431	OTTHUMG00000014436	ENST00000305910.3:c.161G>A	6.37:g.26271452C>T	ENSP00000439660:p.Arg54His						p.R54H	NM_003534.2	NP_003525.1	P68431	H31_HUMAN			1	160	-			54					A0PJT7|A5PLR1|P02295|P02296|P16106|Q6ISV8|Q6NWP8|Q6NWP9|Q6NXU4|Q71DJ3|Q93081	Missense_Mutation	SNP	ENST00000305910.3	37	c.161G>A	CCDS4602.1	.	.	.	.	.	.	.	.	.	.	.	17.70	3.453477	0.63290	.	.	ENSG00000256018	ENST00000305910	T	0.46063	0.88	4.42	4.42	0.53409	.	.	.	.	.	T	0.51075	0.1653	.	.	.	0.45272	D	0.998279	.	.	.	.	.	.	T	0.56438	-0.7979	6	0.59425	D	0.04	.	16.4001	0.83637	0.0:1.0:0.0:0.0	.	.	.	.	H	54	ENSP00000439660:R54H	ENSP00000439660:R54H	R	-	2	0	HIST1H3G	26379431	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	4.676000	0.61627	2.183000	0.69458	0.563000	0.77884	CGC		0.607	HIST1H3G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040099.2	NM_003534		7	105	0	0	0	0.001984	0	7	105					T	26271452	C	T	26271452	3	4	164	1	0	0	0	0	1	0	0	0	7161	768	27	1	253	1	HIST1H3G	6	26271452	Missense_Mutation	SNP	C	TCGA-G9-6363-01A-21D-1786-08	25774039	26271452	144843615	19	7900											
BAI3	577	broad.mit.edu	37	chr6	69758171	69758171	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atggttgactgggcaagaaaCtcagaagatagggtagtaat	15	9	13	4	0	1	4	1	1	0	3	1	4	1	4	0	3	1	4	0	3	6	4			TCGA-G9-6363-01A-21D-1786-08	TCGA-G9-6363-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78cd4d11-912a-4d29-b702-b04b9ad5528f	d0674198-9352-413f-98ab-cce0fa8b47f6	g.chr6:69758171C>T	ENST00000370598.1	+	14	3023	c.2202C>T	c.(2200-2202)aaC>aaT	p.N734N		NM_001704.2	NP_001695	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	734					G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.N734N(2)		NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				GGGCAAGAAACTCAGAAGATA	0.383																																						ENST00000370598.1																			2	Substitution - coding silent(2)	p.N734N(2)	prostate(2)	NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210						c.(2200-2202)aaC>aaT		brain-specific angiogenesis inhibitor 3							78	83	81					6																	69758171		2203	4300	6503	SO:0001819	synonymous_variant	577				negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr6:69758171C>T	AB005299	CCDS4968.1	6q12	2014-08-08			ENSG00000135298	ENSG00000135298		"-", "GPCR / Class B : Orphans"	945	protein-coding gene	gene with protein product		602684				9533023	Standard	NM_001704		Approved	KIAA0550	uc003pev.4	O60242	OTTHUMG00000014982	ENST00000370598.1:c.2202C>T	6.37:g.69758171C>T							p.N734N	NM_001704.2	NP_001695.1	O60242	BAI3_HUMAN			14	3023	+		all_lung(197;0.212)	734					B7Z1K0|O60297|Q2NKN6|Q5VY37|Q9BX54	Silent	SNP	ENST00000370598.1	37	c.2202C>T	CCDS4968.1																																																																																				0.383	BAI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041120.1			9	52	0	0	0	0.006214	0	9	52					T	69758171	C	T	69758171	2	4	164	1	0	0	0	0	0	0	0	1	1300	564	20	3		3	BAI3	6	69758171	Silent	SNP	C	TCGA-G9-6363-01A-21D-1786-08	43486719	69758171	101356896	20	7901											
PPIL4	85313	broad.mit.edu	37	chr6	149826610	149826610	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	catctatacttagatttttcTttatctttggacttctttgg	7	22	5	7	0	4	1	0	0	4	1	4	2	4	2	0	2	1	0	0	2	4	10			TCGA-G9-6363-01A-21D-1786-08	TCGA-G9-6363-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78cd4d11-912a-4d29-b702-b04b9ad5528f	d0674198-9352-413f-98ab-cce0fa8b47f6	g.chr6:149826610T>C	ENST00000253329.2	-	13	1490	c.1458A>G	c.(1456-1458)aaA>aaG	p.K486K	PPIL4_ENST00000340881.2_Missense_Mutation_p.K119R	NM_139126.3	NP_624311.1	Q8WUA2	PPIL4_HUMAN	peptidylprolyl isomerase (cyclophilin)-like 4	486					protein folding (GO:0006457)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|poly(A) RNA binding (GO:0044822)	p.K486K(1)		endometrium(2)|kidney(4)|large_intestine(1)|lung(4)|prostate(1)|urinary_tract(1)	13		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;1.11e-11)|GBM - Glioblastoma multiforme(68;0.0885)		TAGATTTTTCTTTATCTTTGG	0.338																																						ENST00000340881.2																			1	Substitution - coding silent(1)	p.K486K(1)	prostate(1)	endometrium(2)|kidney(4)|large_intestine(1)|lung(4)|prostate(1)|urinary_tract(1)	13						c.(355-357)aAg>aGg		peptidylprolyl isomerase (cyclophilin)-like 4							161	154	156					6																	149826610		2203	4300	6503	SO:0001819	synonymous_variant	85313				protein folding	nucleus	nucleotide binding|peptidyl-prolyl cis-trans isomerase activity|RNA binding	g.chr6:149826610T>C		CCDS34550.1	6q25.1	2013-02-12			ENSG00000131013	ENSG00000131013		"RNA binding motif (RRM) containing"	15702	protein-coding gene	gene with protein product		607609					Standard	NM_139126		Approved		uc003qmo.2	Q8WUA2	OTTHUMG00000015788	ENST00000253329.2:c.1458A>G	6.37:g.149826610T>C						PPIL4_ENST00000253329.2_Silent_p.K486K	p.K119R			Q8WUA2	PPIL4_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;1.11e-11)|GBM - Glioblastoma multiforme(68;0.0885)	3	889	-		Ovarian(120;0.0164)	483			PPIase cyclophilin-type.		B2RD34|Q7Z3Q5	Missense_Mutation	SNP	ENST00000253329.2	37	c.356A>G	CCDS34550.1	.	.	.	.	.	.	.	.	.	.	T	12.64	1.997558	0.35226	.	.	ENSG00000131013	ENST00000340881	.	.	.	6.05	4.88	0.63580	.	0.249820	0.42172	D	0.000760	T	0.29223	0.0727	.	.	.	0.21386	N	0.999704	.	.	.	.	.	.	T	0.21245	-1.0251	6	0.87932	D	0	.	8.7375	0.34537	0.0:0.1459:0.0:0.8541	.	.	.	.	R	119	.	ENSP00000344128:K119R	K	-	2	0	PPIL4	149868303	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.556000	0.36288	1.109000	0.41680	0.528000	0.53228	AAG		0.338	PPIL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042642.1			14	95	0	0	0	0.001855	0	14	95					C	149826610	T	C	149826610	2	2	164	1	0	0	0	0	0	0	0	1	12329	1606	56	4		4	PPIL4	6	149826610	Silent	SNP	T	TCGA-G9-6363-01A-21D-1786-08	80068439	149826610	21288457	21	7902											
ABCB1	5243	broad.mit.edu	37	chr7	87179322	87179322	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caccacaccaatgatttcccGtagaaaccttacatttatgg	13	11	5	12	1	0	2	0	1	0	1	1	2	1	2	4	1	2	1	4	1	5	5			TCGA-G9-6363-01A-21D-1786-08	TCGA-G9-6363-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78cd4d11-912a-4d29-b702-b04b9ad5528f	d0674198-9352-413f-98ab-cce0fa8b47f6	g.chr7:87179322G>A	ENST00000265724.3	-	14	1816	c.1399C>T	c.(1399-1401)Cgg>Tgg	p.R467W	ABCB1_ENST00000543898.1_Missense_Mutation_p.R403W	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 1	467	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				drug transmembrane transport (GO:0006855)|G2/M transition of mitotic cell cycle (GO:0000086)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|stem cell proliferation (GO:0072089)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)|xenobiotic-transporting ATPase activity (GO:0008559)	p.R467W(4)		NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111	Esophageal squamous(14;0.00164)				Acebutolol(DB01193)|Acetaminophen(DB00316)|Acetylsalicylic acid(DB00945)|Adenosine triphosphate(DB00171)|ado-trastuzumab emtansine(DB05773)|Afatinib(DB08916)|Albendazole(DB00518)|Alfentanil(DB00802)|Alitretinoin(DB00523)|Amantadine(DB00915)|Aminohippurate(DB00345)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amprenavir(DB00701)|Amsacrine(DB00276)|Apixaban(DB06605)|Arsenic trioxide(DB01169)|Astemizole(DB00637)|Atazanavir(DB01072)|Atenolol(DB00335)|Atorvastatin(DB01076)|Axitinib(DB06626)|Azelastine(DB00972)|Azithromycin(DB00207)|Benzocaine(DB01086)|Bepridil(DB01244)|Betamethasone(DB00443)|Biperiden(DB00810)|Boceprevir(DB08873)|Bosutinib(DB06616)|Brentuximab vedotin(DB08870)|Bromocriptine(DB01200)|Buprenorphine(DB00921)|Buspirone(DB00490)|Cabazitaxel(DB06772)|Caffeine(DB00201)|Canagliflozin(DB08907)|Candesartan(DB00796)|Captopril(DB01197)|Carbamazepine(DB00564)|Carfilzomib(DB08889)|Carvedilol(DB01136)|Caspofungin(DB00520)|Chloroquine(DB00608)|Chlorpromazine(DB00477)|Chlorpropamide(DB00672)|Chlorprothixene(DB01239)|Cilazapril(DB01340)|Cimetidine(DB00501)|Ciprofloxacin(DB00537)|Cisplatin(DB00515)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Clofazimine(DB00845)|Clomifene(DB00882)|Clomipramine(DB01242)|Clonidine(DB00575)|Clopidogrel(DB00758)|Clotrimazole(DB00257)|Clozapine(DB00363)|Colchicine(DB01394)|Conjugated Estrogens(DB00286)|Crizotinib(DB08865)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dabigatran etexilate(DB06695)|Dabrafenib(DB08912)|Dactinomycin(DB00970)|Dapagliflozin(DB06292)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Debrisoquin(DB04840)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexamethasone(DB01234)|Dextromethorphan(DB00514)|Diazepam(DB00829)|Diclofenac(DB00586)|Diethylstilbestrol(DB00255)|Digitoxin(DB01396)|Digoxin(DB00390)|Dihydroergotamine(DB00320)|Diltiazem(DB00343)|Dipyridamole(DB00975)|Docetaxel(DB01248)|Domperidone(DB01184)|Doxazosin(DB00590)|Doxepin(DB01142)|Doxorubicin(DB00997)|Dronabinol(DB00470)|Dronedarone(DB04855)|Eletriptan(DB00216)|Enalapril(DB00584)|Enzalutamide(DB08899)|Epinastine(DB00751)|Ergonovine(DB01253)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estrone(DB00655)|Ethinyl Estradiol(DB00977)|Etoposide(DB00773)|Etravirine(DB06414)|Ezetimibe(DB00973)|Felodipine(DB01023)|Fentanyl(DB00813)|Fesoterodine(DB06702)|Fexofenadine(DB00950)|Fidaxomicin(DB08874)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flupentixol(DB00875)|Fluphenazine(DB00623)|Flurazepam(DB00690)|Fluticasone furoate(DB08906)|Fluvoxamine(DB00176)|Gefitinib(DB00317)|Gemcitabine(DB00441)|Glyburide(DB01016)|Gramicidin D(DB00027)|Haloperidol(DB00502)|Hydrocortisone(DB00741)|Ibuprofen(DB01050)|Imatinib(DB00619)|Imipramine(DB00458)|Indacaterol(DB05039)|Indinavir(DB00224)|Indomethacin(DB00328)|Irinotecan(DB00762)|Itraconazole(DB01167)|Ivacaftor(DB08820)|Ivermectin(DB00602)|Ketamine(DB01221)|Ketazolam(DB01587)|Ketoconazole(DB01026)|Lamivudine(DB00709)|Lamotrigine(DB00555)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Lenalidomide(DB00480)|Levetiracetam(DB01202)|Levofloxacin(DB01137)|Levomilnacipran(DB08918)|Levothyroxine(DB00451)|Lidocaine(DB00281)|Linagliptin(DB08882)|Liothyronine(DB00279)|Liotrix(DB01583)|Lisinopril(DB00722)|Lomitapide(DB08827)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Losartan(DB00678)|Lovastatin(DB00227)|Mannitol(DB00742)|Maprotiline(DB00934)|Mebendazole(DB00643)|Mefloquine(DB00358)|Megestrol acetate(DB00351)|Meprobamate(DB00371)|Methadone(DB00333)|Methotrexate(DB00563)|Methylprednisolone(DB00959)|Metoprolol(DB00264)|Miconazole(DB01110)|Midazolam(DB00683)|Mifepristone(DB00834)|Mirabegron(DB08893)|Mitomycin(DB00305)|Mitoxantrone(DB01204)|Morphine(DB00295)|Mycophenolate mofetil(DB00688)|Nadolol(DB01203)|Naloxone(DB01183)|Naltrexone(DB00704)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Neostigmine(DB01400)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nisoldipine(DB00401)|Nitrazepam(DB01595)|Nitrendipine(DB01054)|Nizatidine(DB00585)|Norethindrone(DB00717)|Olanzapine(DB00334)|Omeprazole(DB00338)|Paclitaxel(DB01229)|Pantoprazole(DB00213)|Paroxetine(DB00715)|Pazopanib(DB06589)|Perindopril(DB00790)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Pimozide(DB01100)|Pitavastatin(DB08860)|Pomalidomide(DB08910)|Ponatinib(DB08901)|Posaconazole(DB01263)|Pravastatin(DB00175)|Prazosin(DB00457)|Prednisolone(DB00860)|Prednisone(DB00635)|Probenecid(DB01032)|Progesterone(DB00396)|Promethazine(DB01069)|Propafenone(DB01182)|Propranolol(DB00571)|Protriptyline(DB00344)|Quetiapine(DB01224)|Quinacrine(DB01103)|Quinidine(DB00908)|Quinine(DB00468)|Ranitidine(DB00863)|Reboxetine(DB00234)|Regorafenib(DB08896)|Reserpine(DB00206)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Risperidone(DB00734)|Ritonavir(DB00503)|Rivaroxaban(DB06228)|Roxithromycin(DB00778)|Salicylic acid(DB00936)|Saquinavir(DB01232)|Scopolamine(DB00747)|Selegiline(DB01037)|Sertraline(DB01104)|Silodosin(DB06207)|SIMEPREVIR(DB06290)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sitagliptin(DB01261)|SOFOSBUVIR(DB08934)|Sorafenib(DB00398)|Sparfloxacin(DB01208)|Spironolactone(DB00421)|Streptozocin(DB00428)|Sulfinpyrazone(DB01138)|Sumatriptan(DB00669)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tamoxifen(DB00675)|Telaprevir(DB05521)|Telmisartan(DB00966)|Temsirolimus(DB06287)|Terazosin(DB01162)|Testosterone(DB00624)|Ticagrelor(DB08816)|Timolol(DB00373)|Tolvaptan(DB06212)|Topotecan(DB01030)|Toremifene(DB00539)|Trazodone(DB00656)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Trimethoprim(DB00440)|Trimipramine(DB00726)|Troleandomycin(DB01361)|Vecuronium(DB01339)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)|Vinorelbine(DB00361)|Vismodegib(DB08828)|Voacamine(DB04877)|Zidovudine(DB00495)	ATGATTTCCCGTAGAAACCTT	0.408																																						ENST00000265724.3																			4	Substitution - Missense(4)	p.R467W(4)	prostate(2)|endometrium(1)|central_nervous_system(1)	NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111						c.(1399-1401)Cgg>Tgg		ATP-binding cassette, sub-family B (MDR/TAP), member 1	Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570)						145	132	136					7																	87179322		2203	4300	6503	SO:0001583	missense	5243				G2/M transition of mitotic cell cycle|stem cell proliferation	apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction	ATP binding|protein binding|xenobiotic-transporting ATPase activity	g.chr7:87179322G>A	M14758	CCDS5608.1	7q21.12	2012-03-14	2004-05-12		ENSG00000085563	ENSG00000085563		"CD molecules", "ATP binding cassette transporters / subfamily B"	40	protein-coding gene	gene with protein product	"multidrug resistance protein 1"	171050	"colchicin sensitivity"	PGY1, MDR1, CLCS		3027054	Standard	NM_000927		Approved	P-gp, CD243, GP170, ABC20	uc003uiz.2	P08183	OTTHUMG00000023393	ENST00000265724.3:c.1399C>T	7.37:g.87179322G>A	ENSP00000265724:p.Arg467Trp					ABCB1_ENST00000543898.1_Missense_Mutation_p.R403W	p.R467W	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN			14	1816	-	Esophageal squamous(14;0.00164)		467			ABC transporter 1.		A8K294|B5AK60|Q12755|Q14812	Missense_Mutation	SNP	ENST00000265724.3	37	c.1399C>T	CCDS5608.1	.	.	.	.	.	.	.	.	.	.	G	18.60	3.659490	0.67586	.	.	ENSG00000085563	ENST00000543174;ENST00000265724;ENST00000543898	D;D	0.94966	-3.57;-3.57	6.16	4.18	0.49190	ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.000000	0.85682	D	0.000000	D	0.97284	0.9112	M	0.83953	2.67	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.98278	1.0507	10	0.87932	D	0	-21.7962	17.0622	0.86550	0.0:0.0:0.6977:0.3023	.	403;467	B5AK60;P08183	.;MDR1_HUMAN	W	248;467;403	ENSP00000265724:R467W;ENSP00000444095:R403W	ENSP00000265724:R467W	R	-	1	2	ABCB1	87017258	0.859000	0.29813	1.000000	0.80357	0.955000	0.61496	0.322000	0.19576	1.596000	0.50062	0.650000	0.86243	CGG		0.408	ABCB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335444.2	NM_000927		9	121	0	0	0	0.004482	0	9	121					A	87179322	G	A	87179322	3	1	164	1	0	0	0	0	1	0	0	0	40	1144	40	1	2507	1	ABCB1	7	87179322	Missense_Mutation	SNP	G	TCGA-G9-6363-01A-21D-1786-08		87179322	71959341	22	7903											
CLDN12	9069	broad.mit.edu	37	chr7	90042673	90042673	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acagccctattcagcacgctCtcgcctctctgccattgaaa	9	10	6	16	2	3	1	1	1	2	0	5	1	3	1	3	0	3	2	3	0	2	3			TCGA-G9-6363-01A-21D-1786-08	TCGA-G9-6363-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78cd4d11-912a-4d29-b702-b04b9ad5528f	d0674198-9352-413f-98ab-cce0fa8b47f6	g.chr7:90042673C>T	ENST00000287916.4	+	3	970	c.683C>T	c.(682-684)tCt>tTt	p.S228F	CLDN12_ENST00000535571.1_Missense_Mutation_p.S228F|CTB-13L3.1_ENST00000480135.1_RNA|CLDN12_ENST00000394605.2_Missense_Mutation_p.S228F	NM_001185073.2|NM_012129.4	NP_001172002.1|NP_036261.1	P56749	CLD12_HUMAN	claudin 12	228					calcium-independent cell-cell adhesion (GO:0016338)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|tight junction assembly (GO:0070830)	integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)|tight junction (GO:0005923)	identical protein binding (GO:0042802)|structural molecule activity (GO:0005198)	p.S228F(1)		breast(1)|kidney(1)|large_intestine(3)|lung(8)|prostate(2)	15						TCAGCACGCTCTCGCCTCTCT	0.423																																						ENST00000535571.1																			1	Substitution - Missense(1)	p.S228F(1)	prostate(1)	breast(1)|kidney(1)|large_intestine(3)|lung(8)|prostate(2)	15						c.(682-684)tCt>tTt		claudin 12							151	143	146					7																	90042673		2203	4300	6503	SO:0001583	missense	9069				calcium-independent cell-cell adhesion|tight junction assembly	integral to membrane|tight junction	identical protein binding|structural molecule activity	g.chr7:90042673C>T	AJ250713	CCDS5618.1	7q21	2008-07-18			ENSG00000157224	ENSG00000157224		"Claudins"	2034	protein-coding gene	gene with protein product		611232					Standard	NM_001185072		Approved		uc003ukr.3	P56749	OTTHUMG00000156612	ENST00000287916.4:c.683C>T	7.37:g.90042673C>T	ENSP00000287916:p.Ser228Phe					CLDN12_ENST00000394605.2_Missense_Mutation_p.S228F|CLDN12_ENST00000287916.4_Missense_Mutation_p.S228F	p.S228F	NM_001185072.2	NP_001172001.1	P56749	CLD12_HUMAN			2	992	+			228					D6W5Q4|Q7LDZ0	Missense_Mutation	SNP	ENST00000287916.4	37	c.683C>T	CCDS5618.1	.	.	.	.	.	.	.	.	.	.	C	19.31	3.803758	0.70682	.	.	ENSG00000157224	ENST00000496677;ENST00000287916;ENST00000535571;ENST00000394605	T;T;T;T	0.81330	-1.48;-1.48;-1.48;-1.48	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	T	0.80675	0.4668	N	0.19112	0.55	0.50813	D	0.999892	D	0.53745	0.962	P	0.54664	0.758	T	0.82908	-0.0224	10	0.72032	D	0.01	-19.2323	19.6941	0.96016	0.0:1.0:0.0:0.0	.	228	P56749	CLD12_HUMAN	F	228	ENSP00000419053:S228F;ENSP00000287916:S228F;ENSP00000443476:S228F;ENSP00000378103:S228F	ENSP00000287916:S228F	S	+	2	0	CLDN12	89880609	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	6.946000	0.75953	2.885000	0.99019	0.655000	0.94253	TCT		0.423	CLDN12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059221.1	NM_012129		40	145	0	0	0	0.006999	0	40	145					T	90042673	C	T	90042673	3	4	164	1	0	0	0	0	1	0	0	0	3474	913	32	3	685	3	CLDN12	7	90042673	Missense_Mutation	SNP	C	TCGA-G9-6363-01A-21D-1786-08	2863351	90042673	69095990	23	7904											
ABP1	26	broad.mit.edu	37	chr7	150554114	150554114	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	acagatgcctggccttcaccGatgtggccccccggggtgtg	5	8	14	14	2	1	1	1	0	0	1	1	2	1	1	6	4	1	0	6	4	0	1	rs201603660		TCGA-G9-6363-01A-21D-1786-08	TCGA-G9-6363-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78cd4d11-912a-4d29-b702-b04b9ad5528f	d0674198-9352-413f-98ab-cce0fa8b47f6	g.chr7:150554114G>A	ENST00000493429.1	+	4	1140	c.556G>A	c.(556-558)Gat>Aat	p.D186N	AOC1_ENST00000416793.2_Missense_Mutation_p.D186N|AOC1_ENST00000360937.4_Missense_Mutation_p.D186N|AOC1_ENST00000467291.1_Missense_Mutation_p.D186N			P19801	AOC1_HUMAN	amine oxidase, copper containing 1	186					amine metabolic process (GO:0009308)|cellular response to azide (GO:0097185)|cellular response to copper ion (GO:0071280)|cellular response to copper ion starvation (GO:0035874)|cellular response to heparin (GO:0071504)|cellular response to histamine (GO:0071420)|oxidation-reduction process (GO:0055114)|response to antibiotic (GO:0046677)|response to drug (GO:0042493)|sodium ion transmembrane transport (GO:0035725)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|peroxisome (GO:0005777)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	calcium ion binding (GO:0005509)|cation channel activity (GO:0005261)|copper ion binding (GO:0005507)|diamine oxidase activity (GO:0052597)|drug binding (GO:0008144)|heparin binding (GO:0008201)|histamine oxidase activity (GO:0052598)|methylputrescine oxidase activity (GO:0052599)|primary amine oxidase activity (GO:0008131)|propane-1,3-diamine oxidase activity (GO:0052600)|protein complex binding (GO:0032403)|protein homodimerization activity (GO:0042803)|quinone binding (GO:0048038)|receptor activity (GO:0004872)|sodium channel activity (GO:0005272)|zinc ion binding (GO:0008270)	p.D186N(1)								Amiloride(DB00594)	GGCCTTCACCGATGTGGCCCC	0.587													G|||	1	0.000199681	0	0	5008	,	,		19622	0		0.001	False		,,,				2504	0					ENST00000493429.1																			1	Substitution - Missense(1)	p.D186N(1)	prostate(1)								c.(556-558)Gat>Aat		amine oxidase, copper containing 1		G	ASN/ASP	0,3942		0,0,1971	65	67	67		556	5.6	0.3	7		67	2,8298		0,2,4148	yes	missense	ABP1	NM_001091.2	23	0,2,6119	AA,AG,GG		0.0241,0.0,0.0163	possibly-damaging	186/752	150554114	2,12240	1971	4150	6121	SO:0001583	missense	26							g.chr7:150554114G>A	AK092514	CCDS43679.1, CCDS64797.1	7q36.1	2013-06-19	2013-06-19	2013-06-19	ENSG00000002726	ENSG00000002726	1.4.3.22		80	protein-coding gene	gene with protein product	"diamine oxidase"	104610	"amiloride binding protein 1 (amine oxidase (copper-containing))"	ABP1		8182053	Standard	NM_001091		Approved	DAO	uc003wia.2	P19801	OTTHUMG00000158306	ENST00000493429.1:c.556G>A	7.37:g.150554114G>A	ENSP00000418614:p.Asp186Asn					AOC1_ENST00000416793.2_Missense_Mutation_p.D186N|AOC1_ENST00000360937.4_Missense_Mutation_p.D186N|AOC1_ENST00000467291.1_Missense_Mutation_p.D186N	p.D186N							4	1140	+								C9J690|Q16683|Q16684|Q56II4|Q6GU42	Missense_Mutation	SNP	ENST00000493429.1	37	c.556G>A	CCDS43679.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	16.05	3.013134	0.54468	0.0	2.41E-4	ENSG00000002726	ENST00000493429;ENST00000467291;ENST00000460213;ENST00000360937;ENST00000416793;ENST00000437714;ENST00000483043	T;T;T;T;T;T	0.29397	1.57;1.57;1.57;1.57;1.57;1.57	5.55	5.55	0.83447	Copper amine oxidase, N3-terminal (1);Copper amine oxidase, N2/N3-terminal (1);Copper amine oxidase, N-terminal (1);	0.098299	0.64402	D	0.000002	T	0.33265	0.0857	L	0.58969	1.84	0.80722	D	1	P;P	0.49635	0.894;0.926	B;B	0.43990	0.438;0.411	T	0.08597	-1.0714	10	0.10902	T	0.67	-32.0439	16.9905	0.86352	0.0:0.0:1.0:0.0	.	186;186	C9J690;P19801	.;ABP1_HUMAN	N	186;186;186;186;186;62;186	ENSP00000418614:D186N;ENSP00000418328:D186N;ENSP00000418557:D186N;ENSP00000354193:D186N;ENSP00000411613:D186N;ENSP00000417392:D186N	ENSP00000354193:D186N	D	+	1	0	ABP1	150185047	0.950000	0.32346	0.302000	0.25058	0.021000	0.10359	2.724000	0.47285	2.610000	0.88304	0.655000	0.94253	GAT		0.587	AOC1-009	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350628.1	NM_001091		9	78	0	0	0	0.004482	0	9	78					A	150554114	G	A	150554114	3	1	164	1	0	0	0	0	1	0	0	0	98	1058	37	2	558	2	ABP1	7	150554114	Missense_Mutation	SNP	G	TCGA-G9-6363-01A-21D-1786-08	60511441	150554114	8584549	24	7905											
MTUS1	57509	broad.mit.edu	37	chr8	17613213	17613215	+	In_Frame_Del	DEL	GGT	GGT	-																															tggctgaagagttttgtgtaGgtggtgatttcgggttgtat																								rs368852799		TCGA-G9-6363-01A-21D-1786-08	TCGA-G9-6363-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78cd4d11-912a-4d29-b702-b04b9ad5528f	d0674198-9352-413f-98ab-cce0fa8b47f6	g.chr8:17613213_17613215delGGT	ENST00000262102.6	-	2	326_328	c.102_104delACC	c.(100-105)ccacct>cct	p.34_35PP>P	MTUS1_ENST00000381862.3_In_Frame_Del_p.34_35PP>P|MTUS1_ENST00000519263.1_In_Frame_Del_p.34_35PP>P|MTUS1_ENST00000381869.3_In_Frame_Del_p.34_35PP>P	NM_001001924.2	NP_001001924.1	Q9ULD2	MTUS1_HUMAN	microtubule associated tumor suppressor 1	34					cellular response to peptide hormone stimulus (GO:0071375)|regulation of macrophage chemotaxis (GO:0010758)	extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(14)|lung(8)|ovary(1)|skin(2)|urinary_tract(1)	36				Colorectal(111;0.0778)		GTTTTGTGTAGGTGGTGATTTCG	0.399																																						ENST00000381869.3																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(14)|lung(8)|ovary(1)|skin(2)|urinary_tract(1)	36						c.(100-105)cct>cc		microtubule associated tumor suppressor 1																																				SO:0001651	inframe_deletion	57509					Golgi apparatus|microtubule|microtubule organizing center|mitochondrion|nucleus|plasma membrane|spindle		g.chr8:17613213_17613215delGGT	AL096842	CCDS43716.1, CCDS43717.1, CCDS43718.1, CCDS43719.1, CCDS55204.1	8p22	2013-01-17	2009-10-20		ENSG00000129422	ENSG00000129422			29789	protein-coding gene	gene with protein product	"AT2 receptor-interacting protein", "AT2R binding protein", "mitochondrial tumor suppressor gene 1"	609589	"mitochondrial tumor suppressor 1"			10574462, 12692079	Standard	NM_001001931		Approved	MTSG1, KIAA1288, DKFZp586D1519, FLJ14295, ATIP1, MP44, ATBP, ICIS	uc003wxv.3	Q9ULD2	OTTHUMG00000163756	ENST00000262102.6:c.102_104delACC	8.37:g.17613216_17613218delGGT	ENSP00000262102:p.Pro35del					MTUS1_ENST00000262102.6_In_Frame_Del_p.PP34del|MTUS1_ENST00000381862.3_In_Frame_Del_p.PP34del|MTUS1_ENST00000519263.1_In_Frame_Del_p.PP34del	p.PP34del	NM_001001925.2	NP_001001925.1	Q9ULD2	MTUS1_HUMAN		Colorectal(111;0.0778)	2	575_577	-			34					A8K135|B2RBJ6|B3KWJ9|B4DH03|B9EGA1|D3DSP8|Q63HJ6|Q659F4|Q6PK49|Q6URW7|Q8N4M6|Q8WTT9|Q9H7T2	In_Frame_Del	DEL	ENST00000262102.6	37	c.102_104delACC	CCDS43717.1																																																																																				0.399	MTUS1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000375247.1	XM_372031		10	158						10	158	---	---	---	---	-	17613215	GGT	-	17613213	7	5	164	1	0	1	0	1	0	0	0	0	9965	1000	35	0	4083	0	MTUS1	8	17613213	In_Frame_Del	DEL	GGT	TCGA-G9-6363-01A-21D-1786-08		17613213	128750809	25	7906											
DMRT2	10655	broad.mit.edu	37	chr9	1051731	1051731	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cgccccccgggcccagcccgCcgccggcggacggggactgc	3	1	16	21	7	0	0	0	0	0	0	0	2	0	2	7	5	2	0	7	5	0	0			TCGA-G9-6363-01A-21D-1786-08	TCGA-G9-6363-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78cd4d11-912a-4d29-b702-b04b9ad5528f	d0674198-9352-413f-98ab-cce0fa8b47f6	g.chr9:1051731C>T	ENST00000358146.2	+	1	118	c.118C>T	c.(118-120)Ccg>Tcg	p.P40S	DMRT2_ENST00000382251.3_Missense_Mutation_p.P40S|DMRT2_ENST00000382255.3_Missense_Mutation_p.P40S|DMRT2_ENST00000302441.6_Missense_Mutation_p.P40S|DMRT2_ENST00000259622.6_Missense_Mutation_p.P40S|DMRT2_ENST00000412350.2_Missense_Mutation_p.P40S			Q9Y5R5	DMRT2_HUMAN	doublesex and mab-3 related transcription factor 2	40					embryonic skeletal system development (GO:0048706)|positive regulation of myotome development (GO:2000287)|regulation of somitogenesis (GO:0014807)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.P40S(2)		large_intestine(1)|lung(1)|prostate(2)	4		all_lung(10;1.49e-09)|Lung NSC(10;1.86e-09)		Lung(218;0.0195)|GBM - Glioblastoma multiforme(50;0.0388)		gcccagcccgccgccggcgga	0.746																																						ENST00000259622.6																			2	Substitution - Missense(2)	p.P40S(2)	prostate(2)	large_intestine(1)|lung(1)|prostate(2)	4						c.(118-120)Ccg>Tcg		doublesex and mab-3 related transcription factor 2							3	4	3					9																	1051731		1677	3304	4981	SO:0001583	missense	10655				male gonad development|sex determination	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity	g.chr9:1051731C>T	AF130729	CCDS6444.1, CCDS6445.1	9p24.3	2008-07-21			ENSG00000173253	ENSG00000173253			2935	protein-coding gene	gene with protein product	"terra-like protein"	604935				10332030	Standard	NM_181872		Approved		uc003zha.3	Q9Y5R5	OTTHUMG00000019437	ENST00000358146.2:c.118C>T	9.37:g.1051731C>T	ENSP00000350865:p.Pro40Ser					DMRT2_ENST00000358146.2_Missense_Mutation_p.P40S|DMRT2_ENST00000302441.6_Missense_Mutation_p.P40S|DMRT2_ENST00000412350.2_Missense_Mutation_p.P40S|DMRT2_ENST00000382251.3_Missense_Mutation_p.P40S|DMRT2_ENST00000382255.3_Missense_Mutation_p.P40S	p.P40S			Q9Y5R5	DMRT2_HUMAN		Lung(218;0.0195)|GBM - Glioblastoma multiforme(50;0.0388)	1	118	+		all_lung(10;1.49e-09)|Lung NSC(10;1.86e-09)	40					B1ANC0|B9EGJ1|Q9NPG6|Q9NQR6	Missense_Mutation	SNP	ENST00000358146.2	37	c.118C>T	CCDS6444.1	.	.	.	.	.	.	.	.	.	.	C	6.568	0.473194	0.12461	.	.	ENSG00000173253	ENST00000382255;ENST00000382251;ENST00000412350;ENST00000302441;ENST00000358146;ENST00000259622	T;T;T;T;T;T	0.41758	0.99;2.06;0.99;2.06;2.06;0.99	4.53	2.13	0.27403	.	2.301840	0.01400	N	0.013567	T	0.27765	0.0683	N	0.12182	0.205	0.09310	N	1	B;B	0.11235	0.004;0.001	B;B	0.06405	0.002;0.001	T	0.16748	-1.0392	10	0.25751	T	0.34	-2.2002	7.3579	0.26729	0.0:0.5116:0.3559:0.1325	.	40;40	Q05C20;Q9Y5R5	.;DMRT2_HUMAN	S	40	ENSP00000371690:P40S;ENSP00000371686:P40S;ENSP00000397494:P40S;ENSP00000305785:P40S;ENSP00000350865:P40S;ENSP00000259622:P40S	ENSP00000259622:P40S	P	+	1	0	DMRT2	1041731	0.619000	0.27059	0.552000	0.28243	0.034000	0.12701	0.831000	0.27476	0.132000	0.18615	0.484000	0.47621	CCG		0.746	DMRT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051492.1	NM_006557		3	7	0	0	0	0.004672	0	3	7					T	1051731	C	T	1051731	3	4	164	1	0	0	0	0	1	0	0	0	4586	739	26	3	120	3	DMRT2	9	1051731	Missense_Mutation	SNP	C	TCGA-G9-6363-01A-21D-1786-08		1051731	140161700	26	7907											
KLF4	9314	broad.mit.edu	37	chr9	110249346	110249346	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgtgccttgagatgggaactCtttgtgtaggttttgccgca	6	15	13	7	1	1	1	0	1	1	1	1	3	1	2	2	2	3	3	2	2	2	5			TCGA-G9-6363-01A-21D-1786-08	TCGA-G9-6363-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78cd4d11-912a-4d29-b702-b04b9ad5528f	d0674198-9352-413f-98ab-cce0fa8b47f6	g.chr9:110249346C>G	ENST00000374672.4	-	4	1700	c.1227G>C	c.(1225-1227)aaG>aaC	p.K409N		NM_004235.4	NP_004226.3	O43474	KLF4_HUMAN	Kruppel-like factor 4 (gut)	443	Pro-rich.				cellular response to cycloheximide (GO:0071409)|cellular response to growth factor stimulus (GO:0071363)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to laminar fluid shear stress (GO:0071499)|cellular response to peptide (GO:1901653)|epidermal cell differentiation (GO:0009913)|epidermis morphogenesis (GO:0048730)|fat cell differentiation (GO:0045444)|mesodermal cell fate determination (GO:0007500)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chemokine (C-X-C motif) ligand 2 production (GO:2000342)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of heterotypic cell-cell adhesion (GO:0034115)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-8 biosynthetic process (GO:0045415)|negative regulation of muscle hyperplasia (GO:0014740)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of response to cytokine stimulus (GO:0060761)|negative regulation of smooth muscle cell proliferation (GO:0048662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of hemoglobin biosynthetic process (GO:0046985)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of protein metabolic process (GO:0051247)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|post-embryonic camera-type eye development (GO:0031077)|post-embryonic hemopoiesis (GO:0035166)|regulation of cell differentiation (GO:0045595)|response to retinoic acid (GO:0032526)|stem cell maintenance (GO:0019827)|transcription from RNA polymerase II promoter (GO:0006366)	nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	core promoter proximal region sequence-specific DNA binding (GO:0000987)|double-stranded DNA binding (GO:0003690)|phosphatidylinositol 3-kinase regulator activity (GO:0035014)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding transcription factor activity (GO:0003700)|sequence-specific DNA binding transcription factor recruiting transcription factor activity (GO:0001010)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.K409N(1)|p.K400N(1)		breast(1)|central_nervous_system(3)|endometrium(5)|large_intestine(1)|lung(3)|pancreas(1)|prostate(2)	16						GATGGGAACTCTTTGTGTAGG	0.592																																						ENST00000374672.4																			2	Substitution - Missense(2)	p.K409N(1)|p.K400N(1)	prostate(2)	breast(1)|central_nervous_system(3)|endometrium(5)|large_intestine(1)|lung(3)|pancreas(1)|prostate(2)	16						c.(1225-1227)aaG>aaC		Kruppel-like factor 4 (gut)							294	262	273					9																	110249346		2203	4300	6503	SO:0001583	missense	9314				fat cell differentiation|mesodermal cell fate determination|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|stem cell maintenance|transcription from RNA polymerase II promoter	nucleus	RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor recruiting transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr9:110249346C>G	AF022184	CCDS6770.2	9q31	2013-01-08			ENSG00000136826	ENSG00000136826		"Kruppel-like transcription factors", "Zinc fingers, C2H2-type"	6348	protein-coding gene	gene with protein product		602253				9422764, 16372018	Standard	NM_004235		Approved	EZF, GKLF	uc004bdg.3	O43474	OTTHUMG00000020449	ENST00000374672.4:c.1227G>C	9.37:g.110249346C>G	ENSP00000363804:p.Lys409Asn						p.K409N	NM_004235.4	NP_004226.3	O43474	KLF4_HUMAN			4	1700	-			443			Pro-rich.		B2R8S4|B3KT79|L0R3I6|L0R4N5|P78338|Q5T3J8|Q5T3J9|Q8N717|Q9UNP3	Missense_Mutation	SNP	ENST00000374672.4	37	c.1227G>C	CCDS6770.2	.	.	.	.	.	.	.	.	.	.	C	24.1	4.492767	0.84962	.	.	ENSG00000136826	ENST00000374672	T	0.36157	1.27	5.57	4.67	0.58626	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.554792	0.15210	N	0.274523	T	0.65026	0.2652	M	0.89601	3.045	0.80722	D	1	P;D	0.59767	0.89;0.986	B;D	0.63283	0.419;0.913	T	0.71414	-0.4600	10	0.87932	D	0	.	13.8488	0.63483	0.0:0.9259:0.0:0.0741	.	443;409	O43474;O43474-1	KLF4_HUMAN;.	N	409	ENSP00000363804:K409N	ENSP00000363804:K409N	K	-	3	2	KLF4	109289167	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	2.675000	0.46875	1.353000	0.45828	0.655000	0.94253	AAG		0.592	KLF4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053556.2	NM_004235		12	192	0	0	0	0.001855	0	12	192					G	110249346	C	G	110249346	3	3	164	1	0	0	0	0	1	0	0	0	8348	912	32	5	220	5	KLF4	9	110249346	Missense_Mutation	SNP	C	TCGA-G9-6363-01A-21D-1786-08	109197615	110249346	30964085	27	7908											
AGPAT2	10555	broad.mit.edu	37	chr9	139581703	139581703	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggcggacaccgtgaagcacAgcgcgcagtacagggcgacc	10	2	15	14	6	0	1	0	1	0	0	0	3	0	2	2	3	3	3	2	3	2	1			TCGA-G9-6363-01A-21D-1786-08	TCGA-G9-6363-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78cd4d11-912a-4d29-b702-b04b9ad5528f	d0674198-9352-413f-98ab-cce0fa8b47f6	g.chr9:139581703A>T	ENST00000371696.2	-	1	172	c.107T>A	c.(106-108)cTg>cAg	p.L36Q	AGPAT2_ENST00000371694.3_Missense_Mutation_p.L36Q|AGPAT2_ENST00000538402.1_Missense_Mutation_p.L36Q	NM_006412.3	NP_006403.2	O15120	PLCB_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 2	36					CDP-diacylglycerol biosynthetic process (GO:0016024)|cellular lipid metabolic process (GO:0044255)|epidermis development (GO:0008544)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidic acid biosynthetic process (GO:0006654)|phospholipid metabolic process (GO:0006644)|positive regulation of cytokine production (GO:0001819)|positive regulation of cytokine-mediated signaling pathway (GO:0001961)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	1-acylglycerol-3-phosphate O-acyltransferase activity (GO:0003841)	p.L36Q(1)		endometrium(1)|large_intestine(1)|lung(2)|prostate(2)	6	all_cancers(76;0.0893)|all_epithelial(76;0.231)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;9.87e-06)|Epithelial(140;0.000123)		CGTGAAGCACAGCGCGCAGTA	0.726																																						ENST00000371696.2																			1	Substitution - Missense(1)	p.L36Q(1)	prostate(1)	endometrium(1)|large_intestine(1)|lung(2)|prostate(2)	6						c.(106-108)cTg>cAg		1-acylglycerol-3-phosphate O-acyltransferase 2							18	21	20					9																	139581703		1981	4000	5981	SO:0001583	missense	10555				phosphatidic acid biosynthetic process|positive regulation of cytokine production|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane	1-acylglycerol-3-phosphate O-acyltransferase activity	g.chr9:139581703A>T	AF000237	CCDS7003.1, CCDS35181.1	9q34.3	2013-02-05	2013-02-05		ENSG00000169692	ENSG00000169692	2.3.1.51	"1-acylglycerol-3-phosphate O-acyltransferases"	325	protein-coding gene	gene with protein product	"LPAAT-beta", "lysophosphatidic acid acyltransferase, beta"	603100	"Berardinelli-Seip congenital lipodystrophy", "1-acylglycerol-3-phosphate O-acyltransferase 2 (lysophosphatidic acid acyltransferase, beta)"	BSCL		9242711, 9212163	Standard	NM_006412		Approved		uc004cii.1	O15120	OTTHUMG00000020936	ENST00000371696.2:c.107T>A	9.37:g.139581703A>T	ENSP00000360761:p.Leu36Gln					AGPAT2_ENST00000538402.1_Missense_Mutation_p.L36Q|AGPAT2_ENST00000371694.3_Missense_Mutation_p.L36Q	p.L36Q	NM_006412.3	NP_006403.2	O15120	PLCB_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;9.87e-06)|Epithelial(140;0.000123)	1	172	-	all_cancers(76;0.0893)|all_epithelial(76;0.231)	Myeloproliferative disorder(178;0.0511)	36					O00516|O15106|Q5VUD3|Q5VUD4|Q9BSV7|Q9BWR7	Missense_Mutation	SNP	ENST00000371696.2	37	c.107T>A	CCDS7003.1	.	.	.	.	.	.	.	.	.	.	A	18.16	3.563288	0.65538	.	.	ENSG00000169692	ENST00000371694;ENST00000371696;ENST00000538402	D;D;D	0.88741	-2.19;-2.42;-2.42	2.34	1.13	0.20643	.	0.442058	0.21060	U	0.080853	D	0.88797	0.6534	L	0.53249	1.67	0.32468	N	0.543233	D;P	0.57571	0.98;0.939	P;P	0.58721	0.844;0.62	D	0.86068	0.1536	10	0.37606	T	0.19	.	5.8652	0.18771	0.7658:0.0:0.0:0.2342	.	36;36	O15120-2;O15120	.;PLCB_HUMAN	Q	36	ENSP00000360759:L36Q;ENSP00000360761:L36Q;ENSP00000438919:L36Q	ENSP00000360759:L36Q	L	-	2	0	AGPAT2	138701524	0.044000	0.20184	0.829000	0.32907	0.774000	0.43823	0.601000	0.24119	0.315000	0.23110	0.255000	0.18592	CTG		0.726	AGPAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055090.1	NM_006412		5	34	0	0	0	0.001168	0	5	34					T	139581703	A	T	139581703	3	4	164	1	0	0	0	0	1	0	0	0	387	188	7	5	753	5	AGPAT2	9	139581703	Missense_Mutation	SNP	A	TCGA-G9-6363-01A-21D-1786-08	29332357	139581703	1631728	28	7909											
ZNF33A	7581	broad.mit.edu	37	chr10	38345420	38345420	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaatttccagccacaagtcAgcctccataatgcctcagag	13	8	7	13	0	2	1	2	0	0	1	4	2	4	1	5	0	3	0	5	0	3	2			TCGA-G9-6363-01A-21D-1786-08	TCGA-G9-6363-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78cd4d11-912a-4d29-b702-b04b9ad5528f	d0674198-9352-413f-98ab-cce0fa8b47f6	g.chr10:38345420A>T	ENST00000458705.2	+	5	2523	c.2365A>T	c.(2365-2367)Agc>Tgc	p.S789C	ZNF33A_ENST00000374618.3_Missense_Mutation_p.S790C|ZNF33A_ENST00000307441.9_Missense_Mutation_p.S789C|ZNF33A_ENST00000432900.2_Missense_Mutation_p.S796C|ZNF33A_ENST00000469037.2_Intron			Q06730	ZN33A_HUMAN	zinc finger protein 33A	789					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.S789C(1)		cervix(2)|endometrium(2)|large_intestine(8)|liver(2)|lung(27)|ovary(2)|prostate(1)|skin(2)	46						GCCACAAGTCAGCCTCCATAA	0.378																																						ENST00000374618.3																			1	Substitution - Missense(1)	p.S789C(1)	prostate(1)	cervix(2)|endometrium(2)|large_intestine(8)|liver(2)|lung(27)|ovary(2)|prostate(1)|skin(2)	46						c.(2368-2370)Agc>Tgc		zinc finger protein 33A							63	62	62					10																	38345420		2203	4300	6503	SO:0001583	missense	7581					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr10:38345420A>T	D31763	CCDS31182.1, CCDS60514.1, CCDS73088.1, CCDS73089.1	10p11.2	2013-01-08	2005-03-18		ENSG00000189180	ENSG00000189180		"Zinc fingers, C2H2-type", "-"	13096	protein-coding gene	gene with protein product	"zinc finger and ZAK associated protein with KRAB domain"	194521	"zinc finger protein 33a (KOX 31)", "zinc finger protein 11A"	ZNF33, ZNF11A		2014798, 8464732	Standard	NM_006974		Approved	KOX5, KOX31, KIAA0065, FLJ23404, ZZAPK	uc031pui.1	Q06730	OTTHUMG00000017983	ENST00000458705.2:c.2365A>T	10.37:g.38345420A>T	ENSP00000387713:p.Ser789Cys					ZNF33A_ENST00000307441.9_Missense_Mutation_p.S789C|ZNF33A_ENST00000469037.2_Intron|ZNF33A_ENST00000458705.2_Missense_Mutation_p.S789C|ZNF33A_ENST00000432900.2_Missense_Mutation_p.S796C	p.S790C	NM_001278170.1|NM_001278171.1|NM_001278173.1|NM_001278174.1|NM_001278175.1|NM_001278176.1|NM_001278177.1|NM_001278178.1|NM_001278179.1|NM_006954.1|NM_006974.2	NP_001265099.1|NP_001265100.1|NP_001265102.1|NP_001265103.1|NP_001265104.1|NP_001265105.1|NP_001265106.1|NP_001265107.1|NP_001265108.1|NP_008885.1|NP_008905.1	Q06730	ZN33A_HUMAN			5	2546	+			789					A8K9X9|B4E0M8|F6TH33|F8WAJ5|P17013|Q5VZ86	Missense_Mutation	SNP	ENST00000458705.2	37	c.2368A>T	CCDS31182.1	.	.	.	.	.	.	.	.	.	.	A	9.776	1.173924	0.21704	.	.	ENSG00000189180	ENST00000374618;ENST00000432900;ENST00000458705;ENST00000307441	T;T;T;T	0.08008	3.14;3.33;3.14;3.14	1.34	1.34	0.21922	.	.	.	.	.	T	0.08223	0.0205	N	0.08118	0	0.09310	N	1	D;P;D	0.53462	0.96;0.932;0.96	P;P;P	0.56042	0.79;0.621;0.79	T	0.31420	-0.9944	9	0.87932	D	0	.	6.7574	0.23523	1.0:0.0:0.0:0.0	.	796;789;790	F6TH33;Q06730;F8WAJ5	.;ZN33A_HUMAN;.	C	790;796;789;789	ENSP00000363747:S790C;ENSP00000402467:S796C;ENSP00000387713:S789C;ENSP00000304268:S789C	ENSP00000304268:S789C	S	+	1	0	ZNF33A	38385426	0.000000	0.05858	0.068000	0.19968	0.058000	0.15608	0.131000	0.15870	0.864000	0.35578	0.260000	0.18958	AGC		0.378	ZNF33A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000047614.1	NM_006974		16	59	0	0	0	0.003163	0	16	59					T	38345420	A	T	38345420	3	4	164	1	0	0	0	0	1	0	0	0	17851	188	7	5	2382	5	ZNF33A	10	38345420	Missense_Mutation	SNP	A	TCGA-G9-6363-01A-21D-1786-08		38345420	97189327	29	7910											
NANOS1	340719	broad.mit.edu	37	chr10	120789635	120789637	+	In_Frame_Del	DEL	GAC	GAC	-																															ggccgcccgactacgacgagGacgacgacgacgacagcgac																										TCGA-G9-6363-01A-21D-1786-08	TCGA-G9-6363-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78cd4d11-912a-4d29-b702-b04b9ad5528f	d0674198-9352-413f-98ab-cce0fa8b47f6	g.chr10:120789635_120789637delGAC	ENST00000425699.1	+	1	408_410	c.322_324delGAC	c.(322-324)gacdel	p.D112del		NM_199461.2	NP_955631.1	Q8WY41	NANO1_HUMAN	nanos homolog 1 (Drosophila)	112					cell migration (GO:0016477)|epithelial cell migration (GO:0010631)|negative regulation of translation (GO:0017148)	cytoplasm (GO:0005737)|perinuclear region of cytoplasm (GO:0048471)	RNA binding (GO:0003723)|translation repressor activity (GO:0030371)|zinc ion binding (GO:0008270)			lung(1)	1		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.0193)		ctacgacgaggacgacgacgacg	0.788																																						ENST00000425699.1																			0				lung(1)	1						c.(322-324)del		nanos homolog 1 (Drosophila)				3,1375		0,3,686						-0.2	1			2	36,3180		2,32,1574	no	coding	NANOS1	NM_199461.2		2,35,2260	A1A1,A1R,RR		1.1194,0.2177,0.8489				39,4555				SO:0001651	inframe_deletion	340719				epithelial cell migration	perinuclear region of cytoplasm	protein binding|RNA binding|translation repressor activity|zinc ion binding	g.chr10:120789635_120789637delGAC	AF275269	CCDS7607.1	10q26.13	2003-12-01			ENSG00000188613	ENSG00000188613			23044	protein-coding gene	gene with protein product		608226				12690449	Standard	NM_199461		Approved	NOS1	uc009xzf.1	Q8WY41	OTTHUMG00000019141	ENST00000425699.1:c.322_324delGAC	10.37:g.120789644_120789646delGAC	ENSP00000393275:p.Asp112del						p.D112del	NM_199461.2	NP_955631.1	Q8WY41	NANO1_HUMAN		all cancers(201;0.0193)	1	408_410	+		Lung NSC(174;0.094)|all_lung(145;0.123)	112						In_Frame_Del	DEL	ENST00000425699.1	37	c.322_324delGAC	CCDS7607.1																																																																																				0.788	NANOS1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000110794.1			2	4						2	4	---	---	---	---	-	120789637	GAC	-	120789635	7	5	164	1	0	1	0	1	0	0	0	0	10151	1174	41	0	324	0	NANOS1	10	120789635	In_Frame_Del	DEL	GAC	TCGA-G9-6363-01A-21D-1786-08	82444215	120789635	14745112	30	7911											
SYTL2	54843	broad.mit.edu	37	chr11	85459457	85459457	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggtcatccttaattttttcAggcaaatgtctacaaaagga	13	14	7	7	0	3	0	2	0	1	0	4	1	4	1	1	3	1	1	1	3	5	5			TCGA-G9-6363-01A-21D-1786-08	TCGA-G9-6363-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78cd4d11-912a-4d29-b702-b04b9ad5528f	d0674198-9352-413f-98ab-cce0fa8b47f6	g.chr11:85459457A>T	ENST00000528231.1	-	2	388	c.111T>A	c.(109-111)ccT>ccA	p.P37P	SYTL2_ENST00000389960.4_Silent_p.P37P|SYTL2_ENST00000524452.1_Silent_p.P37P|SYTL2_ENST00000316356.4_Silent_p.P37P|SYTL2_ENST00000527523.1_5'UTR	NM_001162951.1|NM_001162953.1	NP_001156423.1|NP_001156425.1	Q9HCH5	SYTL2_HUMAN	synaptotagmin-like 2	37	RabBD. {ECO:0000255|PROSITE- ProRule:PRU00234}.				exocytosis (GO:0006887)|intracellular protein transport (GO:0006886)|negative regulation of phosphatase activity (GO:0010923)|positive regulation of mucus secretion (GO:0070257)|vesicle docking involved in exocytosis (GO:0006904)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|exocytic vesicle (GO:0070382)|extrinsic component of plasma membrane (GO:0019897)|Golgi apparatus (GO:0005794)|melanosome (GO:0042470)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	neurexin family protein binding (GO:0042043)|phosphatase binding (GO:0019902)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylserine binding (GO:0001786)	p.P37P(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(22)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)		KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237)		TAATTTTTTCAGGCAAATGTC	0.393																																						ENST00000316356.4																			1	Substitution - coding silent(1)	p.P37P(1)	prostate(1)	breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(22)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						c.(109-111)ccT>ccA		synaptotagmin-like 2							107	99	102					11																	85459457		2203	4299	6502	SO:0001819	synonymous_variant	54843				intracellular protein transport|vesicle docking involved in exocytosis	exocytic vesicle|extrinsic to plasma membrane|melanosome|membrane fraction	neurexin binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding|Rab GTPase binding	g.chr11:85459457A>T	AJ303364	CCDS31649.1, CCDS31652.1, CCDS41698.1, CCDS53687.1, CCDS53688.1, CCDS53689.1	11q14.1	2014-06-13			ENSG00000137501	ENSG00000137501			15585	protein-coding gene	gene with protein product	"chromosome 11 synaptotagmin", "breast cancer-associated antigen SGA-72M", "protein phosphatase 1, regulatory subunit 151"	612880				10997877	Standard	XM_005274057		Approved	FLJ20163, FLJ21219, KIAA1597, exophilin-4, CHR11SYT, SLP2, SGA72M, MGC102768, PPP1R151	uc001pbb.3	Q9HCH5	OTTHUMG00000166977	ENST00000528231.1:c.111T>A	11.37:g.85459457A>T						SYTL2_ENST00000527523.1_5'UTR|SYTL2_ENST00000524452.1_Silent_p.P37P|SYTL2_ENST00000389960.4_Silent_p.P37P|SYTL2_ENST00000528231.1_Silent_p.P37P	p.P37P			Q9HCH5	SYTL2_HUMAN		KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237)	3	675	-		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)	37			RabBD.		B3KRS3|B4DJT5|B4DKW3|B4DQ26|B7SA85|B7ZLX6|B7ZLX7|Q2YDA7|Q6TV07|Q6ZN59|Q6ZVC5|Q8ND34|Q96BJ2|Q9H768|Q9NXM1	Silent	SNP	ENST00000528231.1	37	c.111T>A	CCDS53688.1																																																																																				0.393	SYTL2-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000392192.1	NM_206927		5	78	0	0	0	0.000602	0	5	78					T	85459457	A	T	85459457	2	4	164	1	0	0	0	0	0	0	0	1	15480	175	7	5		5	SYTL2	11	85459457	Silent	SNP	A	TCGA-G9-6363-01A-21D-1786-08		85459457	49547059	31	7912											
CEP290	80184	broad.mit.edu	37	chr12	88514920	88514920	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgactgaattttcatatgagTctgttgagaaagggttgaag	12	14	12	3	0	2	5	1	5	1	1	2	6	2	5	0	1	0	2	0	1	4	5			TCGA-G9-6363-01A-21D-1786-08	TCGA-G9-6363-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78cd4d11-912a-4d29-b702-b04b9ad5528f	d0674198-9352-413f-98ab-cce0fa8b47f6	g.chr12:88514920T>C	ENST00000552810.1	-	14	1556	c.1213A>G	c.(1213-1215)Act>Gct	p.T405A	CEP290_ENST00000397838.3_5'UTR|CEP290_ENST00000309041.7_Missense_Mutation_p.T405A	NM_025114.3	NP_079390.3	O15078	CE290_HUMAN	centrosomal protein 290kDa	405					cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|establishment or maintenance of cell polarity (GO:0007163)|eye photoreceptor cell development (GO:0042462)|G2/M transition of mitotic cell cycle (GO:0000086)|hindbrain development (GO:0030902)|mitotic cell cycle (GO:0000278)|otic vesicle formation (GO:0030916)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of transcription, DNA-templated (GO:0045893)|pronephros development (GO:0048793)|protein transport (GO:0015031)|regulation of cAMP metabolic process (GO:0030814)|regulation of establishment of protein localization (GO:0070201)|retina development in camera-type eye (GO:0060041)	centriolar satellite (GO:0034451)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|photoreceptor connecting cilium (GO:0032391)|protein complex (GO:0043234)|TCTN-B9D complex (GO:0036038)		p.T405A(2)		breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|liver(1)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	73						TTCATATGAGTCTGTTGAGAA	0.383																																						ENST00000552810.1																			2	Substitution - Missense(2)	p.T405A(2)	prostate(2)	breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|liver(1)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	73						c.(1213-1215)Act>Gct		centrosomal protein 290kDa							89	80	83					12																	88514920		1820	4080	5900	SO:0001583	missense	80184				cilium assembly|eye photoreceptor cell development|G2/M transition of mitotic cell cycle|hindbrain development|otic vesicle formation|positive regulation of transcription, DNA-dependent|pronephros development|protein transport	cell surface|centrosome|cytosol|nucleus|photoreceptor connecting cilium	protein binding	g.chr12:88514920T>C	AB002371	CCDS55858.1	12q21.33	2014-09-17				ENSG00000198707			29021	protein-coding gene	gene with protein product	"Joubert syndrome 5", "nephrocystin-6", "cancer/testis antigen 87", "POC3 centriolar protein homolog (Chlamydomonas)", "Meckel syndrome, type 4"	610142				15474516, 16682973, 16632484	Standard	NM_025114		Approved	KIAA0373, FLJ13615, 3H11Ag, rd16, NPHP6, JBTS5, SLSN6, LCA10, MKS4, BBS14, CT87, POC3	uc001tar.3	O15078		ENST00000552810.1:c.1213A>G	12.37:g.88514920T>C	ENSP00000448012:p.Thr405Ala					CEP290_ENST00000309041.7_Missense_Mutation_p.T405A|CEP290_ENST00000397838.3_5'UTR	p.T405A	NM_025114.3	NP_079390.3	O15078	CE290_HUMAN			14	1556	-			405					Q1PSK5|Q66GS8|Q9H2G6|Q9H6Q7|Q9H8I0	Missense_Mutation	SNP	ENST00000552810.1	37	c.1213A>G	CCDS55858.1	.	.	.	.	.	.	.	.	.	.	T	10.13	1.264762	0.23136	.	.	ENSG00000198707	ENST00000552810;ENST00000309041;ENST00000536998;ENST00000545139	T;T	0.63580	-0.04;-0.05	5.84	3.43	0.39272	.	0.428727	0.25711	N	0.028811	T	0.41719	0.1171	N	0.22421	0.69	0.80722	D	1	B;B	0.24920	0.114;0.114	B;B	0.24394	0.036;0.053	T	0.09975	-1.0650	10	0.13108	T	0.6	.	7.5783	0.27950	0.1267:0.0682:0.0:0.8051	.	405;405	Q05BJ6;O15078	.;CE290_HUMAN	A	405;405;405;307	ENSP00000448012:T405A;ENSP00000308021:T405A	ENSP00000308021:T405A	T	-	1	0	CEP290	87039051	1.000000	0.71417	0.911000	0.35937	0.254000	0.26022	3.678000	0.54627	0.447000	0.26695	0.482000	0.46254	ACT		0.383	CEP290-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000406344.1	NM_025114		3	43	0	0	0	0.004672	0	3	43					C	88514920	T	C	88514920	3	2	164	1	0	0	0	0	1	0	0	0	3253	1667	58	4	6390	4	CEP290	12	88514920	Missense_Mutation	SNP	T	TCGA-G9-6363-01A-21D-1786-08		88514920	45336975	32	7913											
ACACB	32	broad.mit.edu	37	chr12	109639448	109639448	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caagcgtccaggtgccgtgcTggaagcaggctgcgtggtgg	6	7	18	10	3	0	0	0	0	0	0	1	1	1	1	2	5	5	3	2	5	2	0			TCGA-G9-6363-01A-21D-1786-08	TCGA-G9-6363-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78cd4d11-912a-4d29-b702-b04b9ad5528f	d0674198-9352-413f-98ab-cce0fa8b47f6	g.chr12:109639448T>A	ENST00000338432.7	+	19	2974	c.2855T>A	c.(2854-2856)cTg>cAg	p.L952Q	ACACB_ENST00000377854.5_Missense_Mutation_p.L952Q|ACACB_ENST00000377848.3_Missense_Mutation_p.L952Q			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	952	Biotinyl-binding. {ECO:0000255|PROSITE- ProRule:PRU01066}.				acetyl-CoA metabolic process (GO:0006084)|biotin metabolic process (GO:0006768)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|malonyl-CoA biosynthetic process (GO:2001295)|positive regulation of cellular metabolic process (GO:0031325)|protein homotetramerization (GO:0051289)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	acetyl-CoA carboxylase activity (GO:0003989)|ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin carboxylase activity (GO:0004075)|metal ion binding (GO:0046872)	p.L952Q(1)		NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Adenine(DB00173)|Biotin(DB00121)	GGTGCCGTGCTGGAAGCAGGC	0.552																																						ENST00000338432.7																			1	Substitution - Missense(1)	p.L952Q(1)	prostate(1)	NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95						c.(2854-2856)cTg>cAg		acetyl-CoA carboxylase beta	Biotin(DB00121)						134	109	118					12																	109639448		2203	4300	6503	SO:0001583	missense	32				acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	cytosol|endomembrane system|Golgi apparatus|membrane	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding	g.chr12:109639448T>A	U89344	CCDS31898.1	12q24.1	2010-05-07	2010-04-30		ENSG00000076555	ENSG00000076555	6.4.1.2		85	protein-coding gene	gene with protein product	"acetyl-CoA carboxylase 2"	601557	"acetyl-Coenzyme A carboxylase beta"			8670171	Standard	NM_001093		Approved	HACC275, ACC2, ACCB	uc001toc.3	O00763	OTTHUMG00000169250	ENST00000338432.7:c.2855T>A	12.37:g.109639448T>A	ENSP00000341044:p.Leu952Gln					ACACB_ENST00000377854.5_Missense_Mutation_p.L952Q|ACACB_ENST00000377848.3_Missense_Mutation_p.L952Q	p.L952Q			O00763	ACACB_HUMAN			19	2974	+			952			Biotinyl-binding.		A6NK36|Q16852|Q1HEC1|Q6KE87|Q6KE89|Q6TY48	Missense_Mutation	SNP	ENST00000338432.7	37	c.2855T>A	CCDS31898.1	.	.	.	.	.	.	.	.	.	.	T	24.3	4.518310	0.85495	.	.	ENSG00000076555	ENST00000338432;ENST00000377848;ENST00000377854;ENST00000390027	T;T;T	0.60299	0.2;0.2;0.2	5.39	5.39	0.77823	Single hybrid motif (1);Biotin/lipoyl attachment (2);	0.000000	0.64402	D	0.000001	T	0.79299	0.4422	M	0.86573	2.825	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.83539	0.0095	10	0.87932	D	0	.	15.4307	0.75092	0.0:0.0:0.0:1.0	.	952	O00763	ACACB_HUMAN	Q	952;952;952;183	ENSP00000341044:L952Q;ENSP00000367079:L952Q;ENSP00000367085:L952Q	ENSP00000341044:L952Q	L	+	2	0	ACACB	108123831	1.000000	0.71417	0.998000	0.56505	0.785000	0.44390	7.946000	0.87746	2.044000	0.60594	0.459000	0.35465	CTG		0.552	ACACB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403077.1	NM_001093		7	79	0	0	0	0.00308	0	7	79					A	109639448	T	A	109639448	3	1	164	1	0	0	0	0	1	0	0	0	107	1580	55	5	2925	5	ACACB	12	109639448	Missense_Mutation	SNP	T	TCGA-G9-6363-01A-21D-1786-08	21124528	109639448	24212447	33	7914											
TBX5	6910	broad.mit.edu	37	chr12	114793645	114793645	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gtagggtagcctgtccatggGctgcacggtggtgacggtgc	5	9	18	9	2	0	1	0	1	0	0	1	1	1	1	2	5	3	4	2	5	2	2			TCGA-G9-6363-01A-21D-1786-08	TCGA-G9-6363-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78cd4d11-912a-4d29-b702-b04b9ad5528f	d0674198-9352-413f-98ab-cce0fa8b47f6	g.chr12:114793645G>A	ENST00000310346.4	-	9	1915	c.1249C>T	c.(1249-1251)Ccc>Tcc	p.P417S	TBX5_ENST00000405440.2_Missense_Mutation_p.P417S|TBX5_ENST00000349716.5_Missense_Mutation_p.P367S	NM_000192.3	NP_000183.2	Q99593	TBX5_HUMAN	T-box 5	417					apoptotic nuclear changes (GO:0030262)|atrial septum morphogenesis (GO:0060413)|atrioventricular valve morphogenesis (GO:0003181)|bundle of His development (GO:0003166)|cardiac left ventricle formation (GO:0003218)|cardiac muscle cell differentiation (GO:0055007)|cell migration involved in coronary vasculogenesis (GO:0060980)|cell-cell signaling (GO:0007267)|embryonic forelimb morphogenesis (GO:0035115)|embryonic limb morphogenesis (GO:0030326)|endocardial cushion development (GO:0003197)|forelimb morphogenesis (GO:0035136)|gene expression (GO:0010467)|heart development (GO:0007507)|lung development (GO:0030324)|morphogenesis of an epithelium (GO:0002009)|negative regulation of cardiac muscle cell proliferation (GO:0060044)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|pattern specification process (GO:0007389)|pericardium development (GO:0060039)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cardioblast differentiation (GO:0051891)|positive regulation of secondary heart field cardioblast proliferation (GO:0072513)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of execution phase of apoptosis (GO:1900117)|transcription initiation from RNA polymerase II promoter (GO:0006367)|ventricular cardiac muscle tissue development (GO:0003229)|ventricular septum development (GO:0003281)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)	p.P417S(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(29)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0893)		CTGTCCATGGGCTGCACGGTG	0.657																																					NSCLC(152;1358 1980 4050 23898 40356)	ENST00000310346.4																			1	Substitution - Missense(1)	p.P417S(1)	prostate(1)	endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(29)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	56						c.(1249-1251)Ccc>Tcc		T-box 5							44	39	41					12																	114793645		2202	4300	6502	SO:0001583	missense	6910				cardiac left ventricle formation|cell migration involved in coronary vasculogenesis|cell-cell signaling|embryonic arm morphogenesis|induction of apoptosis|negative regulation of cardiac muscle cell proliferation|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|pericardium development|positive regulation of cardioblast differentiation|positive regulation of transcription from RNA polymerase II promoter|ventricular septum development	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding	g.chr12:114793645G>A	U89353	CCDS9173.1, CCDS9174.1	12q24.1	2014-09-17			ENSG00000089225	ENSG00000089225		"T-boxes"	11604	protein-coding gene	gene with protein product		601620		HOS		8988165, 8054982	Standard	NM_000192		Approved		uc001tvo.4	Q99593	OTTHUMG00000166191	ENST00000310346.4:c.1249C>T	12.37:g.114793645G>A	ENSP00000309913:p.Pro417Ser					TBX5_ENST00000349716.5_Missense_Mutation_p.P367S|TBX5_ENST00000405440.2_Missense_Mutation_p.P417S	p.P417S	NM_000192.3	NP_000183.2	Q99593	TBX5_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.0893)	9	1915	-	Medulloblastoma(191;0.163)|all_neural(191;0.178)		417					A6ND77|O15301|Q96TB0|Q9Y4I2	Missense_Mutation	SNP	ENST00000310346.4	37	c.1249C>T	CCDS9173.1	.	.	.	.	.	.	.	.	.	.	G	15.02	2.707842	0.48412	.	.	ENSG00000089225	ENST00000349716;ENST00000310346;ENST00000448888;ENST00000405440	T;T;T	0.48836	0.8;0.8;0.8	4.99	3.89	0.44902	.	0.180678	0.49305	D	0.000155	T	0.40347	0.1113	L	0.55103	1.725	0.80722	D	1	B	0.12630	0.006	B	0.15484	0.013	T	0.25328	-1.0135	10	0.10111	T	0.7	.	14.2394	0.65948	0.085:0.0:0.915:0.0	.	417	Q99593	TBX5_HUMAN	S	367;417;314;417	ENSP00000337723:P367S;ENSP00000309913:P417S;ENSP00000384152:P417S	ENSP00000309913:P417S	P	-	1	0	TBX5	113278028	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.598000	0.82745	2.321000	0.78463	0.655000	0.94253	CCC		0.657	TBX5-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388297.1	NM_080717		11	46	0	0	0	0.000978	0	11	46					A	114793645	G	A	114793645	3	1	164	1	0	0	0	0	1	0	0	0	15658	1203	42	3	311	3	TBX5	12	114793645	Missense_Mutation	SNP	G	TCGA-G9-6363-01A-21D-1786-08	5154197	114793645	19058250	34	7915											
TMEM132D	121256	broad.mit.edu	37	chr12	129563125	129563125	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagccactgcagtggcaaagAtggccctgttgcttcctggg	7	9	14	11	0	0	1	0	0	0	1	1	2	1	1	3	3	3	4	3	3	1	2			TCGA-G9-6363-01A-21D-1786-08	TCGA-G9-6363-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78cd4d11-912a-4d29-b702-b04b9ad5528f	d0674198-9352-413f-98ab-cce0fa8b47f6	g.chr12:129563125A>G	ENST00000422113.2	-	8	2395	c.2069T>C	c.(2068-2070)aTc>aCc	p.I690T	TMEM132D_ENST00000389441.4_Missense_Mutation_p.I228T	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	690					negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)		p.I690T(1)		NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		AGTGGCAAAGATGGCCCTGTT	0.577																																						ENST00000422113.2																			1	Substitution - Missense(1)	p.I690T(1)	prostate(1)	NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152						c.(2068-2070)aTc>aCc		transmembrane protein 132D							128	112	117					12																	129563125		2203	4300	6503	SO:0001583	missense	121256					integral to membrane		g.chr12:129563125A>G	AB061814	CCDS9266.1	12q24.32-q24.33	2014-06-13			ENSG00000151952	ENSG00000151952			29411	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 153"	611257				11853319, 12966072	Standard	NM_133448		Approved	KIAA1944, MOLT, PPP1R153	uc009zyl.1	Q14C87	OTTHUMG00000168400	ENST00000422113.2:c.2069T>C	12.37:g.129563125A>G	ENSP00000408581:p.Ile690Thr					TMEM132D_ENST00000389441.4_Missense_Mutation_p.I228T	p.I690T	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)	8	2395	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)	690					Q14C96|Q76M59|Q8N1W9|Q8N3Q5|Q8TF57	Missense_Mutation	SNP	ENST00000422113.2	37	c.2069T>C	CCDS9266.1	.	.	.	.	.	.	.	.	.	.	A	17.35	3.367916	0.61513	.	.	ENSG00000151952	ENST00000389441;ENST00000422113	T;T	0.20881	2.04;2.04	4.79	4.79	0.61399	.	0.211356	0.39274	N	0.001419	T	0.42653	0.1212	M	0.66560	2.04	0.49130	D	0.999759	D;D	0.63046	0.992;0.99	P;D	0.67382	0.813;0.951	T	0.28870	-1.0030	9	.	.	.	-24.5105	14.3335	0.66574	1.0:0.0:0.0:0.0	.	690;228	Q14C87;Q14C87-2	T132D_HUMAN;.	T	228;690	ENSP00000374092:I228T;ENSP00000408581:I690T	.	I	-	2	0	TMEM132D	128129078	1.000000	0.71417	0.931000	0.37212	0.388000	0.30384	7.238000	0.78173	1.774000	0.52232	0.460000	0.39030	ATC		0.577	TMEM132D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399592.1	NM_133448		5	109	0	0	0	0.001168	0	5	109					G	129563125	A	G	129563125	3	3	164	1	0	0	0	0	1	0	0	0	16044	333	12	4	1238	4	TMEM132D	12	129563125	Missense_Mutation	SNP	A	TCGA-G9-6363-01A-21D-1786-08	14769480	129563125	4288770	35	7916											
ENOX1	55068	broad.mit.edu	37	chr13	43872565	43872565	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctgttcggaaaagctgttCtttttcttgtttcagcagct	6	19	8	8	1	4	0	1	0	3	0	5	1	4	1	0	1	3	6	0	1	2	7			TCGA-G9-6363-01A-21D-1786-08	TCGA-G9-6363-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78cd4d11-912a-4d29-b702-b04b9ad5528f	d0674198-9352-413f-98ab-cce0fa8b47f6	g.chr13:43872565C>A	ENST00000261488.6	-	12	1940	c.1363G>T	c.(1363-1365)Gaa>Taa	p.E455*	ENOX1_ENST00000412891.1_Nonsense_Mutation_p.E455*	NM_001242863.1|NM_017993.3	NP_001229792.1|NP_060463.2	Q8TC92	ENOX1_HUMAN	ecto-NOX disulfide-thiol exchanger 1	455					rhythmic process (GO:0048511)	extracellular region (GO:0005576)|plasma membrane (GO:0005886)	nucleic acid binding (GO:0003676)|nucleotide binding (GO:0000166)|oxidoreductase activity (GO:0016491)	p.E455*(2)		breast(1)|endometrium(3)|large_intestine(7)|lung(18)|pancreas(2)|prostate(1)|skin(1)|urinary_tract(1)	34		Lung NSC(96;0.000518)|Prostate(109;0.0233)|Hepatocellular(98;0.0268)|Lung SC(185;0.0367)|Breast(139;0.0406)		GBM - Glioblastoma multiforme(144;0.00333)|BRCA - Breast invasive adenocarcinoma(63;0.172)		AAAAGCTGTTCTTTTTCTTGT	0.527																																						ENST00000261488.6																			2	Substitution - Nonsense(2)	p.E455*(2)	prostate(2)	breast(1)|endometrium(3)|large_intestine(7)|lung(18)|pancreas(2)|prostate(1)|skin(1)|urinary_tract(1)	34						c.(1363-1365)Gaa>Taa		ecto-NOX disulfide-thiol exchanger 1							180	152	162					13																	43872565		2203	4300	6503	SO:0001587	stop_gained	55068				electron transport chain|rhythmic process|transport	extracellular space|plasma membrane	nucleic acid binding|nucleotide binding|oxidoreductase activity	g.chr13:43872565C>A	EF432052	CCDS9389.1	13q14.11	2013-02-12			ENSG00000120658	ENSG00000120658		"RNA binding motif (RRM) containing"	25474	protein-coding gene	gene with protein product		610914				11360993	Standard	NM_001127615		Approved	FLJ10094, PIG38, CNOX, cCNOX	uc001uza.4	Q8TC92	OTTHUMG00000016818	ENST00000261488.6:c.1363G>T	13.37:g.43872565C>A	ENSP00000261488:p.Glu455*					ENOX1_ENST00000412891.1_Nonsense_Mutation_p.E455*	p.E455*	NM_001242863.1|NM_017993.3	NP_001229792.1|NP_060463.2	Q8TC92	ENOX1_HUMAN		GBM - Glioblastoma multiforme(144;0.00333)|BRCA - Breast invasive adenocarcinoma(63;0.172)	12	1940	-		Lung NSC(96;0.000518)|Prostate(109;0.0233)|Hepatocellular(98;0.0268)|Lung SC(185;0.0367)|Breast(139;0.0406)	455					A4GU15|A6NMH9|B7Z5K1|Q2TU81|Q5VT11|Q9NWE0	Nonsense_Mutation	SNP	ENST00000261488.6	37	c.1363G>T	CCDS9389.1	.	.	.	.	.	.	.	.	.	.	C	40	8.021535	0.98613	.	.	ENSG00000120658	ENST00000261488;ENST00000412891	.	.	.	5.5	5.5	0.81552	.	0.295390	0.35677	N	0.003059	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.05620	T	0.96	-5.2031	19.3845	0.94551	0.0:1.0:0.0:0.0	.	.	.	.	X	455	.	ENSP00000261488:E455X	E	-	1	0	ENOX1	42770565	1.000000	0.71417	0.638000	0.29380	0.878000	0.50629	3.580000	0.53907	2.586000	0.87340	0.655000	0.94253	GAA		0.527	ENOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044717.2	NM_017993		38	103	1	0	1.03484e-13	0.005524	1.79972e-13	38	103					A	43872565	C	A	43872565	4	1	164	1	0	0	0	0	0	1	0	0	5126	922	32	5	592	5	ENOX1	13	43872565	Nonsense_Mutation	SNP	C	TCGA-G9-6363-01A-21D-1786-08		43872565	71297313	36	7917											
C14orf145	145508	broad.mit.edu	37	chr14	81251838	81251838	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctttcgaagattctctatttGttgtaatgctgcatacagct	9	17	7	8	1	1	1	0	0	1	1	3	2	1	1	0	0	4	5	0	0	4	7			TCGA-G9-6363-01A-21D-1786-08	TCGA-G9-6363-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78cd4d11-912a-4d29-b702-b04b9ad5528f	d0674198-9352-413f-98ab-cce0fa8b47f6	g.chr14:81251838G>A	ENST00000555265.1	-	15	1987	c.1612C>T	c.(1612-1614)Caa>Taa	p.Q538*	CEP128_ENST00000281129.3_Nonsense_Mutation_p.Q538*			Q6ZU80	CE128_HUMAN	centrosomal protein 128kDa	538						centriole (GO:0005814)|cytoplasm (GO:0005737)|microtubule organizing center (GO:0005815)|spindle pole (GO:0000922)				NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	51						TTCTCTATTTGTTGTAATGCT	0.353																																						ENST00000555265.1																			0				NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	51						c.(1612-1614)Caa>Taa		centrosomal protein 128kDa							33	30	31					14																	81251838		2203	4295	6498	SO:0001587	stop_gained	145508					centriole|spindle pole		g.chr14:81251838G>A	AK056756	CCDS32130.1	14q31.1	2014-02-20	2011-05-06	2011-05-06	ENSG00000100629	ENSG00000100629			20359	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 61", "chromosome 14 open reading frame 145"	C14orf61, C14orf145		21399614	Standard	NM_152446		Approved		uc001xux.2	Q6ZU80		ENST00000555265.1:c.1612C>T	14.37:g.81251838G>A	ENSP00000451162:p.Gln538*					CEP128_ENST00000281129.3_Nonsense_Mutation_p.Q538*	p.Q538*			Q6ZU80	CE128_HUMAN			15	1987	-			538					B9EK52|Q86X97|Q96ML4	Nonsense_Mutation	SNP	ENST00000555265.1	37	c.1612C>T	CCDS32130.1	.	.	.	.	.	.	.	.	.	.	G	40	8.266343	0.98735	.	.	ENSG00000100629	ENST00000281129;ENST00000555265;ENST00000393619	.	.	.	5.75	5.75	0.90469	.	0.071231	0.56097	D	0.000036	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.20046	T	0.44	.	20.3028	0.98618	0.0:0.0:1.0:0.0	.	.	.	.	X	538	.	ENSP00000281129:Q538X	Q	-	1	0	CEP128	80321591	1.000000	0.71417	1.000000	0.80357	0.410000	0.31052	7.821000	0.86641	2.876000	0.98609	0.643000	0.83706	CAA		0.353	CEP128-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413415.1	NM_152446		11	22	0	0	0	0.000978	0	11	22					A	81251838	G	A	81251838	4	1	164	1	0	0	0	0	0	1	0	0	1749	1386	48	3	1716	3	C14orf145	14	81251838	Nonsense_Mutation	SNP	G	TCGA-G9-6363-01A-21D-1786-08		81251838	26097702	37	7918											
COMMD4	54939	broad.mit.edu	37	chr15	75631620	75631620	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccagagcacgcggccagccTgtgccgctgttatgaggaga	8	6	14	13	3	0	3	0	1	0	2	0	4	0	3	4	2	3	3	4	2	1	1	rs373430411		TCGA-G9-6363-01A-21D-1786-08	TCGA-G9-6363-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78cd4d11-912a-4d29-b702-b04b9ad5528f	d0674198-9352-413f-98ab-cce0fa8b47f6	g.chr15:75631620T>C	ENST00000267935.8	+	6	516	c.317T>C	c.(316-318)cTg>cCg	p.L106P	COMMD4_ENST00000564815.1_Missense_Mutation_p.L84P|COMMD4_ENST00000562789.1_Missense_Mutation_p.L112P|COMMD4_ENST00000567195.1_Intron|COMMD4_ENST00000338995.6_Missense_Mutation_p.L106P	NM_017828.3	NP_060298.2	Q9H0A8	COMD4_HUMAN	COMM domain containing 4	106						cytoplasm (GO:0005737)		p.L106P(3)		breast(3)|endometrium(2)|kidney(2)|large_intestine(1)|lung(1)|prostate(1)	10						GCGGCCAGCCTGTGCCGCTGT	0.622																																						ENST00000267935.8																			3	Substitution - Missense(3)	p.L106P(3)	prostate(1)|lung(1)|kidney(1)	breast(3)|endometrium(2)|kidney(2)|large_intestine(1)|lung(1)|prostate(1)	10						c.(316-318)cTg>cCg		COMM domain containing 4		T	PRO/LEU	0,4394		0,0,2197	30	32	31		317	4.6	1	15		31	2,8586	2.2+/-6.3	0,2,4292	no	missense	COMMD4	NM_017828.3	98	0,2,6489	CC,CT,TT		0.0233,0.0,0.0154	possibly-damaging	106/200	75631620	2,12980	2197	4294	6491	SO:0001583	missense	54939					cytoplasm	protein binding	g.chr15:75631620T>C	AY542160	CCDS10277.1, CCDS66834.1, CCDS66835.1, CCDS73764.1	15q24.2	2012-09-20			ENSG00000140365	ENSG00000140365			26027	protein-coding gene	gene with protein product						15799966	Standard	XM_005254511		Approved	FLJ20452	uc002azy.3	Q9H0A8	OTTHUMG00000142823	ENST00000267935.8:c.317T>C	15.37:g.75631620T>C	ENSP00000267935:p.Leu106Pro					COMMD4_ENST00000564815.1_Missense_Mutation_p.L84P|COMMD4_ENST00000562789.1_Missense_Mutation_p.L112P|COMMD4_ENST00000338995.6_Missense_Mutation_p.L106P|COMMD4_ENST00000567195.1_Intron	p.L106P	NM_017828.3	NP_060298.2	Q9H0A8	COMD4_HUMAN			6	516	+			106					B2RBN4|H3BUL2|Q7L637|Q9NX43	Missense_Mutation	SNP	ENST00000267935.8	37	c.317T>C	CCDS10277.1	.	.	.	.	.	.	.	.	.	.	T	17.10	3.302500	0.60195	0.0	2.33E-4	ENSG00000140365	ENST00000267935;ENST00000338995	T;T	0.15834	2.39;2.39	4.58	4.58	0.56647	.	0.000000	0.64402	D	0.000002	T	0.41488	0.1161	M	0.88450	2.955	0.80722	D	1	B;D	0.56035	0.21;0.974	B;P	0.56042	0.191;0.79	T	0.52087	-0.8622	10	0.66056	D	0.02	.	13.4655	0.61251	0.0:0.0:0.0:1.0	.	106;106	Q9H0A8-2;Q9H0A8	.;COMD4_HUMAN	P	106	ENSP00000267935:L106P;ENSP00000340867:L106P	ENSP00000267935:L106P	L	+	2	0	COMMD4	73418673	1.000000	0.71417	1.000000	0.80357	0.928000	0.56348	4.948000	0.63590	1.844000	0.53588	0.487000	0.48397	CTG		0.622	COMMD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286414.1	NM_017828		3	45	0	0	0	0.004672	0	3	45					C	75631620	T	C	75631620	3	2	164	1	0	0	0	0	1	0	0	0	3718	1580	55	4	339	4	COMMD4	15	75631620	Missense_Mutation	SNP	T	TCGA-G9-6363-01A-21D-1786-08		75631620	26899772	38	7919											
PRKCB	5579	broad.mit.edu	37	chr16	24104205	24104205	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcccgatcccaaaagtgagaGcaaacagaagaccaaaacca	19	3	7	12	1	0	3	0	1	0	3	2	5	2	3	4	0	3	1	4	0	6	0			TCGA-G9-6363-01A-21D-1786-08	TCGA-G9-6363-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78cd4d11-912a-4d29-b702-b04b9ad5528f	d0674198-9352-413f-98ab-cce0fa8b47f6	g.chr16:24104205G>A	ENST00000321728.7	+	6	798	c.623G>A	c.(622-624)aGc>aAc	p.S208N	PRKCB_ENST00000303531.7_Missense_Mutation_p.S208N|PRKCB_ENST00000482000.1_3'UTR	NM_212535.2	NP_997700.1	P05771	KPCB_HUMAN	protein kinase C, beta	208	C2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				apoptotic process (GO:0006915)|B cell activation (GO:0042113)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|cellular calcium ion homeostasis (GO:0006874)|cellular response to carbohydrate stimulus (GO:0071322)|histone H3-T6 phosphorylation (GO:0035408)|intracellular signal transduction (GO:0035556)|lipoprotein transport (GO:0042953)|negative regulation of glucose transport (GO:0010829)|negative regulation of insulin receptor signaling pathway (GO:0046627)|platelet activation (GO:0030168)|positive regulation of angiogenesis (GO:0045766)|positive regulation of B cell receptor signaling pathway (GO:0050861)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein phosphorylation (GO:0006468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|calcium channel regulator activity (GO:0005246)|chromatin binding (GO:0003682)|histone binding (GO:0042393)|histone kinase activity (H3-T6 specific) (GO:0035403)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein kinase C activity (GO:0004697)|protein kinase C binding (GO:0005080)|protein serine/threonine kinase activity (GO:0004674)|zinc ion binding (GO:0008270)	p.S208N(3)		central_nervous_system(3)|large_intestine(1)|lung(2)|ovary(3)	9					Tamoxifen(DB00675)|Vitamin E(DB00163)	AAAAGTGAGAGCAAACAGAAG	0.443																																						ENST00000303531.7																			3	Substitution - Missense(3)	p.S208N(3)	prostate(3)	central_nervous_system(3)|large_intestine(1)|lung(2)|ovary(3)	9						c.(622-624)aGc>aAc		protein kinase C, beta	Vitamin E(DB00163)						177	149	159					16																	24104205		2197	4300	6497	SO:0001583	missense	5579				apoptosis|B cell activation|B cell receptor signaling pathway|intracellular signal transduction|lipoprotein transport|platelet activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|synaptic transmission|transcription, DNA-dependent	cytosol|nucleus|plasma membrane	androgen receptor binding|ATP binding|chromatin binding|histone binding|histone kinase activity (H3-T6 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|zinc ion binding	g.chr16:24104205G>A	M13975	CCDS10618.1, CCDS10619.1	16p12	2009-07-10	2008-08-18	2008-08-18	ENSG00000166501	ENSG00000166501	2.7.11.1		9395	protein-coding gene	gene with protein product		176970	"protein kinase C, beta 1"	PRKCB2, PKCB, PRKCB1		3658678	Standard	NM_002738		Approved		uc002dme.3	P05771	OTTHUMG00000131615	ENST00000321728.7:c.623G>A	16.37:g.24104205G>A	ENSP00000318315:p.Ser208Asn					PRKCB_ENST00000321728.7_Missense_Mutation_p.S208N|PRKCB_ENST00000482000.1_3'UTR	p.S208N	NM_002738.6	NP_002729.2	P05771	KPCB_HUMAN			6	775	+			208			C2.		C5IFJ8|D3DWF5|O43744|P05127|Q15138|Q93060|Q9UE49|Q9UE50|Q9UEH8|Q9UJ30|Q9UJ33	Missense_Mutation	SNP	ENST00000321728.7	37	c.623G>A	CCDS10618.1	.	.	.	.	.	.	.	.	.	.	G	19.40	3.819696	0.71028	.	.	ENSG00000166501	ENST00000321728;ENST00000303531	T;T	0.69435	-0.4;-0.4	5.38	5.38	0.77491	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	T	0.58032	0.2094	L	0.28740	0.885	0.80722	D	1	B;B	0.10296	0.002;0.003	B;B	0.18561	0.008;0.022	T	0.51212	-0.8734	10	0.33940	T	0.23	.	18.4836	0.90820	0.0:0.0:1.0:0.0	.	208;208	P05771-2;P05771	.;KPCB_HUMAN	N	208	ENSP00000318315:S208N;ENSP00000305355:S208N	ENSP00000305355:S208N	S	+	2	0	PRKCB	24011706	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.328000	0.96403	2.681000	0.91329	0.650000	0.86243	AGC		0.443	PRKCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254504.2	NM_212535		9	104	0	0	0	0.008291	0	9	104					A	24104205	G	A	24104205	3	1	164	1	0	0	0	0	1	0	0	0	12508	971	34	3	645	3	PRKCB	16	24104205	Missense_Mutation	SNP	G	TCGA-G9-6363-01A-21D-1786-08		24104205	66250548	39	7920											
DNAH2	146754	broad.mit.edu	37	chr17	7680786	7680786	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtcaatcctgaataagtattCagaagccatcagggggaact	14	9	10	8	0	3	2	3	1	0	1	4	3	4	3	2	2	2	1	2	2	6	3			TCGA-G9-6363-01A-21D-1786-08	TCGA-G9-6363-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78cd4d11-912a-4d29-b702-b04b9ad5528f	d0674198-9352-413f-98ab-cce0fa8b47f6	g.chr17:7680786C>G	ENST00000572933.1	+	33	6541	c.5081C>G	c.(5080-5082)tCa>tGa	p.S1694*	DNAH2_ENST00000389173.2_Nonsense_Mutation_p.S1694*			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	1694	Stem. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.S1694*(1)		NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				AATAAGTATTCAGAAGCCATC	0.507																																						ENST00000572933.1																			1	Substitution - Nonsense(1)	p.S1694*(1)	prostate(1)	NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189						c.(5080-5082)tCa>tGa		dynein, axonemal, heavy chain 2							261	259	260					17																	7680786		2203	4300	6503	SO:0001587	stop_gained	146754				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:7680786C>G	U83570, AK128517	CCDS32551.1	17p13.1	2007-10-05	2006-09-04			ENSG00000183914		"Axonemal dyneins"	2948	protein-coding gene	gene with protein product		603333	"dynein, axonemal, heavy polypeptide 2", "dynein heavy chain domain 3"	DNHD3		9256245	Standard	XM_005256470		Approved	KIAA1503, FLJ46675	uc002giu.1	Q9P225		ENST00000572933.1:c.5081C>G	17.37:g.7680786C>G	ENSP00000458355:p.Ser1694*					DNAH2_ENST00000389173.2_Nonsense_Mutation_p.S1694*	p.S1694*			Q9P225	DYH2_HUMAN			33	6541	+		all_cancers(10;4.66e-07)|Prostate(122;0.081)	1694			Stem (By similarity).		A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	Nonsense_Mutation	SNP	ENST00000572933.1	37	c.5081C>G	CCDS32551.1	.	.	.	.	.	.	.	.	.	.	C	45	11.874311	0.99612	.	.	ENSG00000183914	ENST00000360606;ENST00000389173	.	.	.	5.51	5.51	0.81932	.	0.091941	0.47093	D	0.000247	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	.	18.1667	0.89731	0.0:1.0:0.0:0.0	.	.	.	.	X	1694	.	ENSP00000353818:S1694X	S	+	2	0	DNAH2	7621511	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.347000	0.59373	2.587000	0.87381	0.585000	0.79938	TCA		0.507	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440241.1	NM_020877		30	378	0	0	0	0.002836	0	30	378					G	7680786	C	G	7680786	4	3	164	1	0	0	0	0	0	1	0	0	4602	838	29	5	5207	5	DNAH2	17	7680786	Nonsense_Mutation	SNP	C	TCGA-G9-6363-01A-21D-1786-08		7680786	73514424	40	7921											
DNAH9	1770	broad.mit.edu	37	chr17	11572560	11572560	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cacggctttccccacaaaatGgctctcctcactatcaggta	10	10	6	15	1	3	0	2	0	1	0	5	0	4	0	3	3	0	3	3	3	4	3			TCGA-G9-6363-01A-21D-1786-08	TCGA-G9-6363-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78cd4d11-912a-4d29-b702-b04b9ad5528f	d0674198-9352-413f-98ab-cce0fa8b47f6	g.chr17:11572560G>A	ENST00000262442.4	+	16	2979	c.2911G>A	c.(2911-2913)Ggc>Agc	p.G971S	DNAH9_ENST00000454412.2_Missense_Mutation_p.G971S	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	971	Stem. {ECO:0000250}.				cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)	p.G971S(1)		NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		CCCACAAAATGGCTCTCCTCA	0.542																																						ENST00000262442.3																			1	Substitution - Missense(1)	p.G971S(1)	prostate(1)	NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290						c.(2911-2913)Ggc>Agc		dynein, axonemal, heavy chain 9							92	87	89					17																	11572560		2203	4300	6503	SO:0001583	missense	1770				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:11572560G>A	U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"Axonemal dyneins"	2953	protein-coding gene	gene with protein product		603330	"dynein, axonemal, heavy polypeptide 17-like", "dynein, axonemal, heavy polypeptide 9"	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.2911G>A	17.37:g.11572560G>A	ENSP00000262442:p.Gly971Ser					DNAH9_ENST00000454412.2_Missense_Mutation_p.G971S	p.G971S	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)	16	2979	+		Breast(5;0.0122)|all_epithelial(5;0.131)	971			Stem (By similarity).		A2VCQ8|O15064|O95494|Q9NQ28	Missense_Mutation	SNP	ENST00000262442.4	37	c.2911G>A	CCDS11160.1	.	.	.	.	.	.	.	.	.	.	G	9.117	1.008130	0.19199	.	.	ENSG00000007174	ENST00000262442;ENST00000454412	T;T	0.25250	1.85;1.81	5.6	0.739	0.18324	.	1.088490	0.06909	N	0.807363	T	0.20700	0.0498	L	0.48642	1.525	0.09310	N	0.999997	B	0.16396	0.017	B	0.11329	0.006	T	0.34428	-0.9829	10	0.16420	T	0.52	.	6.7713	0.23594	0.3604:0.1374:0.5022:0.0	.	971	Q9NYC9	DYH9_HUMAN	S	971	ENSP00000262442:G971S;ENSP00000414874:G971S	ENSP00000262442:G971S	G	+	1	0	DNAH9	11513285	0.000000	0.05858	0.207000	0.23584	0.473000	0.32948	0.449000	0.21744	0.313000	0.23062	0.655000	0.94253	GGC		0.542	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2	NM_001372		5	125	0	0	0	0.00308	0	5	125					A	11572560	G	A	11572560	3	1	164	1	0	0	0	0	1	0	0	0	4608	1348	47	3	2973	3	DNAH9	17	11572560	Missense_Mutation	SNP	G	TCGA-G9-6363-01A-21D-1786-08	3891774	11572560	69622650	41	7922											
CCDC144A	9720	broad.mit.edu	37	chr17	16594036	16594036	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ctcctggagacactggcgtgGacaagagggataggaagaag	13	5	16	7	1	0	3	0	0	0	3	1	7	1	6	1	5	0	0	1	5	4	1			TCGA-G9-6363-01A-21D-1786-08	TCGA-G9-6363-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78cd4d11-912a-4d29-b702-b04b9ad5528f	d0674198-9352-413f-98ab-cce0fa8b47f6	g.chr17:16594036G>T	ENST00000360524.8	+	1	398	c.322G>T	c.(322-324)Gac>Tac	p.D108Y	CCDC144A_ENST00000340621.5_Missense_Mutation_p.D108Y|RNU6-405P_ENST00000516637.1_RNA|CCDC144A_ENST00000399273.1_Missense_Mutation_p.D108Y|CCDC144A_ENST00000443444.2_Missense_Mutation_p.D108Y|CCDC144A_ENST00000456009.1_Missense_Mutation_p.D108Y|CCDC144A_ENST00000436374.1_3'UTR|RP11-219A15.1_ENST00000448331.3_Missense_Mutation_p.D108Y	NM_014695.1	NP_055510.1	A2RUR9	C144A_HUMAN	coiled-coil domain containing 144A	108								p.D108Y(1)									CACTGGCGTGGACAAGAGGGA	0.657																																						ENST00000443444.2																			1	Substitution - Missense(1)	p.D108Y(1)	prostate(1)								c.(322-324)Gac>Tac		coiled-coil domain containing 144A							119	127	124					17																	16594036		2203	4300	6503	SO:0001583	missense	9720							g.chr17:16594036G>T	BC133019	CCDS45621.1	17p11.2	2008-10-23			ENSG00000170160	ENSG00000170160			29072	protein-coding gene	gene with protein product						9628581, 11997339	Standard	NM_014695		Approved	KIAA0565, FLJ43983	uc002gqk.1	A2RUR9	OTTHUMG00000059178	ENST00000360524.8:c.322G>T	17.37:g.16594036G>T	ENSP00000353717:p.Asp108Tyr					RP11-219A15.1_ENST00000448331.3_Missense_Mutation_p.D108Y|CCDC144A_ENST00000456009.1_Missense_Mutation_p.D108Y|CCDC144A_ENST00000340621.5_Missense_Mutation_p.D108Y|CCDC144A_ENST00000436374.1_3'UTR|CCDC144A_ENST00000399273.1_Missense_Mutation_p.D108Y|CCDC144A_ENST00000360524.8_Missense_Mutation_p.D108Y	p.D108Y			A2RUR9	C144A_HUMAN			1	462	+			108					O60311|Q6ZU57	Missense_Mutation	SNP	ENST00000360524.8	37	c.322G>T	CCDS45621.1	.	.	.	.	.	.	.	.	.	.	.	9.663	1.144541	0.21288	.	.	ENSG00000170160	ENST00000420937;ENST00000340621;ENST00000399273;ENST00000436374;ENST00000399264;ENST00000443444;ENST00000448331;ENST00000360524;ENST00000456009;ENST00000360495	T;T;T;T;T;T;T	0.19532	2.14;2.14;2.14;2.14;2.14;2.14;2.14	0.542	-1.08	0.09936	.	.	.	.	.	T	0.07143	0.0181	N	0.08118	0	0.09310	N	1	P	0.41214	0.742	B	0.29440	0.102	T	0.22208	-1.0223	8	0.87932	D	0	.	.	.	.	.	108	A2RUR9	C144A_HUMAN	Y	108	ENSP00000344740:D108Y;ENSP00000382215:D108Y;ENSP00000439262:D108Y;ENSP00000440655:D108Y;ENSP00000353717:D108Y;ENSP00000394201:D108Y;ENSP00000353685:D108Y	ENSP00000344740:D108Y	D	+	1	0	CCDC144A	16534761	0.825000	0.29262	0.005000	0.12908	0.002000	0.02628	-0.990000	0.03732	-0.396000	0.07703	-0.745000	0.03516	GAC		0.657	CCDC144A-013	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000444093.1			27	245	1	0	1.77063e-15	0.005443	3.17128e-15	27	245					T	16594036	G	T	16594036	3	4	164	1	0	0	0	0	1	0	0	0	2777	1174	41	5	324	5	CCDC144A	17	16594036	Missense_Mutation	SNP	G	TCGA-G9-6363-01A-21D-1786-08	5021476	16594036	64601174	42	7923											
FLII	2314	broad.mit.edu	37	chr17	18151872	18151872	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agcagggctcaccttgtacaGcttgggctgcggcggccaga	7	7	15	12	2	1	1	1	0	0	1	1	1	1	1	2	4	4	5	2	4	1	3	rs542815509		TCGA-G9-6363-01A-21D-1786-08	TCGA-G9-6363-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78cd4d11-912a-4d29-b702-b04b9ad5528f	d0674198-9352-413f-98ab-cce0fa8b47f6	g.chr17:18151872G>C	ENST00000327031.4	-	18	2407	c.2182C>G	c.(2182-2184)Ctg>Gtg	p.L728V	FLII_ENST00000379450.4_Missense_Mutation_p.L642V|FLII_ENST00000545457.2_Missense_Mutation_p.L673V|FLII_ENST00000578558.1_Intron|FLII_ENST00000579294.1_Missense_Mutation_p.L717V	NM_002018.3	NP_002009.1	Q13045	FLII_HUMAN	flightless I homolog (Drosophila)	728	Interaction with ACTL6A.				multicellular organismal development (GO:0007275)|muscle contraction (GO:0006936)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|microtubule organizing center (GO:0005815)|nucleus (GO:0005634)	actin binding (GO:0003779)	p.L728V(1)		central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32	all_neural(463;0.228)					ACCTTGTACAGCTTGGGCTGC	0.622											OREG0024225	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000327031.4																			1	Substitution - Missense(1)	p.L728V(1)	prostate(1)	central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32						c.(2182-2184)Ctg>Gtg		flightless I homolog (Drosophila)							44	47	46					17																	18151872		2203	4300	6503	SO:0001583	missense	2314				multicellular organismal development|muscle contraction|regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|nucleus	actin binding	g.chr17:18151872G>C	U01184	CCDS11192.1, CCDS58521.1, CCDS58522.1	17p11.2	2008-07-18	2001-11-28		ENSG00000177731	ENSG00000177731			3750	protein-coding gene	gene with protein product		600362	"flightless I (Drosophila) homolog"			7825574	Standard	NM_002018		Approved	FLI, FLIL, Fli1, MGC39265	uc002gsr.2	Q13045	OTTHUMG00000059389	ENST00000327031.4:c.2182C>G	17.37:g.18151872G>C	ENSP00000324573:p.Leu728Val		OREG0024225	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	723	FLII_ENST00000579294.1_Missense_Mutation_p.L717V|FLII_ENST00000545457.2_Missense_Mutation_p.L673V|FLII_ENST00000379450.4_Missense_Mutation_p.L642V|FLII_ENST00000578558.1_Intron	p.L728V	NM_002018.3	NP_002009.1	Q13045	FLII_HUMAN			18	2407	-	all_neural(463;0.228)		728			Interaction with ACTL6A.		B4DIL0|F5H407|J3QLG3	Missense_Mutation	SNP	ENST00000327031.4	37	c.2182C>G	CCDS11192.1	.	.	.	.	.	.	.	.	.	.	G	31	5.072199	0.93950	.	.	ENSG00000177731	ENST00000327031;ENST00000379450	T;T	0.21543	2.0;2.0	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	T	0.46983	0.1421	M	0.62088	1.915	0.80722	D	1	D;D;D;D	0.76494	0.997;0.997;0.999;0.997	D;D;D;D	0.78314	0.991;0.991;0.986;0.978	T	0.40905	-0.9538	10	0.87932	D	0	-12.729	19.4761	0.94989	0.0:0.0:1.0:0.0	.	642;642;728;697	E7EPM0;B4DIL0;Q13045;B4DIX0	.;.;FLII_HUMAN;.	V	728;642	ENSP00000324573:L728V;ENSP00000368763:L642V	ENSP00000324573:L728V	L	-	1	2	FLII	18092597	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	9.373000	0.97168	2.618000	0.88619	0.462000	0.41574	CTG		0.622	FLII-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132032.2	NM_002018		7	61	0	0	0	0.001984	0	7	61					C	18151872	G	C	18151872	3	2	164	1	0	0	0	0	1	0	0	0	5925	962	34	5	1679	5	FLII	17	18151872	Missense_Mutation	SNP	G	TCGA-G9-6363-01A-21D-1786-08	1557836	18151872	63043338	43	7924											
KRT24	192666	broad.mit.edu	37	chr17	38855747	38855747	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctcgatctccacctccaggCgtgtcttgatgtccagcaat	7	12	8	14	2	3	1	0	1	3	0	7	2	5	1	4	1	1	1	4	1	1	1			TCGA-G9-6363-01A-21D-1786-08	TCGA-G9-6363-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78cd4d11-912a-4d29-b702-b04b9ad5528f	d0674198-9352-413f-98ab-cce0fa8b47f6	g.chr17:38855747C>A	ENST00000264651.2	-	6	1366	c.1310G>T	c.(1309-1311)cGc>cTc	p.R437L		NM_019016.2	NP_061889.2	Q2M2I5	K1C24_HUMAN	keratin 24	437	Coil 2.|Rod.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)	structural molecule activity (GO:0005198)	p.R437L(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Breast(137;0.00526)				CACCTCCAGGCGTGTCTTGAT	0.502																																					GBM(61;380 1051 14702 23642 31441)	ENST00000264651.2																			1	Substitution - Missense(1)	p.R437L(1)	prostate(1)	breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(1309-1311)cGc>cTc		keratin 24							167	164	165					17																	38855747		2203	4300	6503	SO:0001583	missense	192666					cytoplasm|intermediate filament	structural molecule activity	g.chr17:38855747C>A		CCDS11372.1	17q21.2	2013-06-25			ENSG00000167916	ENSG00000167916		"-", "Intermediate filaments type I, keratins (acidic)"	18527	protein-coding gene	gene with protein product		607742				16831889	Standard	NM_019016		Approved	FLJ20261, MGC138169, MGC138173	uc002hvd.3	Q2M2I5	OTTHUMG00000133372	ENST00000264651.2:c.1310G>T	17.37:g.38855747C>A	ENSP00000264651:p.Arg437Leu						p.R437L	NM_019016.2	NP_061889.2	Q2M2I5	K1C24_HUMAN			6	1366	-		Breast(137;0.00526)	437			Coil 2.|Rod.		Q9NXG7	Missense_Mutation	SNP	ENST00000264651.2	37	c.1310G>T	CCDS11372.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.077097	0.76415	.	.	ENSG00000167916	ENST00000264651	D	0.89681	-2.55	5.62	3.61	0.41365	Filament (1);	.	.	.	.	D	0.93719	0.7993	M	0.93594	3.435	0.41011	D	0.985007	P	0.52577	0.954	P	0.52066	0.689	D	0.94242	0.7486	9	0.87932	D	0	.	12.7624	0.57372	0.0:0.8653:0.0:0.1347	.	437	Q2M2I5	K1C24_HUMAN	L	437	ENSP00000264651:R437L	ENSP00000264651:R437L	R	-	2	0	KRT24	36109273	0.766000	0.28496	0.696000	0.30242	0.921000	0.55340	2.238000	0.43070	0.719000	0.32188	-0.194000	0.12790	CGC		0.502	KRT24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257217.1	NM_019016		30	158	1	0	4.74835e-14	0.002096	8.37945e-14	30	158					A	38855747	C	A	38855747	3	1	164	1	0	0	0	0	1	0	0	0	8461	768	27	5	279	5	KRT24	17	38855747	Missense_Mutation	SNP	C	TCGA-G9-6363-01A-21D-1786-08	20703875	38855747	42339463	44	7925											
HEXIM1	10614	broad.mit.edu	37	chr17	43227525	43227526	+	In_Frame_Ins	INS	-	-	GGAGCT																															ggcgacgacgcgcgtgtgcgINSggagctggagctggagctgg																										TCGA-G9-6363-01A-21D-1786-08	TCGA-G9-6363-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78cd4d11-912a-4d29-b702-b04b9ad5528f	d0674198-9352-413f-98ab-cce0fa8b47f6	g.chr17:43227525_43227526insGGAGCT	ENST00000332499.2	+	1	2842_2843	c.968_969insGGAGCT	c.(967-972)cgggag>cgGGAGCTggag	p.328_329insLE	AC002117.1_ENST00000452741.1_RNA|AC002117.1_ENST00000589950.1_RNA	NM_006460.2	NP_006451.1	O94992	HEXI1_HUMAN	hexamethylene bis-acetamide inducible 1	328	Required for inhibition of ESR1-dependent transcription.				heart development (GO:0007507)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|snRNA binding (GO:0017069)			breast(1)|kidney(2)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						GCGCGTGTGCGGGAGCTGGAGC	0.668																																						ENST00000332499.2																			0				breast(1)|kidney(2)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						c.(967-969)cga>cGGAGCTga		hexamethylene bis-acetamide inducible 1																																				SO:0001652	inframe_insertion	10614				negative regulation of cyclin-dependent protein kinase activity|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	cyclin-dependent protein kinase inhibitor activity|protein binding|snRNA binding	g.chr17:43227525_43227526insGGAGCT	AB021179	CCDS11495.1	17q21.31	2006-03-28				ENSG00000186834			24953	protein-coding gene	gene with protein product		607328				12119119, 12832472	Standard	NM_006460		Approved	CLP-1, HIS1, MAQ1, EDG1	uc002iig.3	O94992		ENST00000332499.2:c.981_986dupGGAGCT	17.37:g.43227526_43227531dupGGAGCT	ENSP00000328773:p.Leu327_Glu328dup						p.323_324insS*	NM_006460.2	NP_006451.1	O94992	HEXI1_HUMAN			1	2842_2843	+			323			Required for inhibition of ESR1-dependent transcription.		B2R8Y5	In_Frame_Ins	INS	ENST00000332499.2	37	c.968_969insGGAGCT	CCDS11495.1																																																																																				0.668	HEXIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449821.2	NM_006460		17	112						17	112	---	---	---	---	GGAGCT	43227526	-	GGAGCT	43227525	7	5	164	1	0	1	1	0	0	0	0	0	7076	1116	39	0	970	0	HEXIM1	17	43227525	In_Frame_Ins	INS	-	TCGA-G9-6363-01A-21D-1786-08	4371778	43227525	37967685	45	7926											
ABCA5	23461	broad.mit.edu	37	chr17	67252297	67252297	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tagccataaagaataaattaCctcctcacaacactggcaac	17	8	4	12	0	1	1	1	0	0	1	2	1	2	1	3	1	4	1	3	1	9	4			TCGA-G9-6363-01A-21D-1786-08	TCGA-G9-6363-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78cd4d11-912a-4d29-b702-b04b9ad5528f	d0674198-9352-413f-98ab-cce0fa8b47f6	g.chr17:67252297C>T	ENST00000392676.3	-	29	3923		c.e29+1		ABCA5_ENST00000392677.2_Splice_Site|ABCA5_ENST00000588877.1_Splice_Site			Q8WWZ7	ABCA5_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 5						cholesterol efflux (GO:0033344)|high-density lipoprotein particle remodeling (GO:0034375)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|reverse cholesterol transport (GO:0043691)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|lysosome (GO:0005764)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)	p.?(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(18)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	54	Breast(10;3.72e-11)				Tacrolimus(DB00864)	GAATAAATTACCTCCTCACAA	0.353																																						ENST00000392676.3																			1	Unknown(1)	p.?(1)	prostate(1)	breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(18)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	54						c.e29+1		ATP-binding cassette, sub-family A (ABC1), member 5							153	154	154					17																	67252297		2203	4300	6503	SO:0001630	splice_region_variant	23461				cholesterol efflux|high-density lipoprotein particle remodeling|negative regulation of macrophage derived foam cell differentiation	Golgi membrane|integral to membrane|late endosome membrane|lysosomal membrane	ATP binding|ATPase activity	g.chr17:67252297C>T	U66672	CCDS11685.1	17q24.3	2012-03-14			ENSG00000154265	ENSG00000154265		"ATP binding cassette transporters / subfamily A"	35	protein-coding gene	gene with protein product		612503				8894702	Standard	NM_172232		Approved	EST90625	uc002jig.2	Q8WWZ7		ENST00000392676.3:c.3858+1G>A	17.37:g.67252297C>T						ABCA5_ENST00000392677.2_Splice_Site|ABCA5_ENST00000588877.1_Splice_Site				Q8WWZ7	ABCA5_HUMAN			29	3923	-	Breast(10;3.72e-11)							Q8IVJ2|Q96LJ1|Q96MS4|Q96PZ9|Q9NY14	Splice_Site	SNP	ENST00000392676.3	37		CCDS11685.1	.	.	.	.	.	.	.	.	.	.	C	19.42	3.823876	0.71143	.	.	ENSG00000154265	ENST00000392677;ENST00000392676	.	.	.	5.73	5.73	0.89815	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.8552	0.96755	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ABCA5	64763892	1.000000	0.71417	1.000000	0.80357	0.611000	0.37282	6.748000	0.74877	2.861000	0.98227	0.655000	0.94253	.		0.353	ABCA5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000450654.1	NM_018672	Intron	7	134	0	0	0	0.00308	0	7	134					T	67252297	C	T	67252297	5	4	164	1	0	0	0	0	0	0	1	0	35	521	18	3	1113	3	ABCA5	17	67252297	Splice_Site	SNP	C	TCGA-G9-6363-01A-21D-1786-08	24024772	67252297	13942913	46	7927											
MAP2K6	5608	broad.mit.edu	37	chr17	67513026	67513026	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gatttagactccaaggcttgCatttctattggaaatcaggt	11	14	9	7	0	2	1	1	0	1	1	3	3	3	2	1	3	1	2	1	3	4	6			TCGA-G9-6363-01A-21D-1786-08	TCGA-G9-6363-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78cd4d11-912a-4d29-b702-b04b9ad5528f	d0674198-9352-413f-98ab-cce0fa8b47f6	g.chr17:67513026C>T	ENST00000590474.1	+	3	401	c.114C>T	c.(112-114)tgC>tgT	p.C38C	MAP2K6_ENST00000589647.1_5'UTR	NM_002758.3	NP_002749.2	P52564	MP2K6_HUMAN	mitogen-activated protein kinase kinase 6	38					activation of MAPK activity (GO:0000187)|apoptotic process (GO:0006915)|cardiac muscle contraction (GO:0060048)|cell cycle arrest (GO:0007050)|cellular response to sorbitol (GO:0072709)|DNA damage induced protein phosphorylation (GO:0006975)|innate immune response (GO:0045087)|muscle cell differentiation (GO:0042692)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of apoptotic process (GO:0043065)|positive regulation of muscle cell differentiation (GO:0051149)|regulation of transcription, DNA-templated (GO:0006355)|response to drug (GO:0042493)|response to ischemia (GO:0002931)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription, DNA-templated (GO:0006351)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|MAP kinase kinase activity (GO:0004708)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)	p.C38C(1)		central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)	20	Breast(10;6.05e-10)					CCAAGGCTTGCATTTCTATTG	0.363																																						ENST00000590474.1																			1	Substitution - coding silent(1)	p.C38C(1)	prostate(1)	central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)	20						c.(112-114)tgC>tgT		mitogen-activated protein kinase kinase 6							156	145	149					17																	67513026		2203	4300	6503	SO:0001819	synonymous_variant	5608				activation of MAPK activity|cell cycle arrest|DNA damage induced protein phosphorylation|innate immune response|muscle cell differentiation|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of muscle cell differentiation|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|MAP kinase kinase activity|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr17:67513026C>T	U39064	CCDS11686.1	17q	2011-06-09						"Mitogen-activated protein kinase cascade / Kinase kinases"	6846	protein-coding gene	gene with protein product	"protein kinase, mitogen-activated, kinase 6 (MAP kinase kinase 6)"	601254		PRKMK6		8621675	Standard	XM_005257515		Approved	MEK6, MKK6, SAPKK3, MAPKK6	uc002jij.3	P52564		ENST00000590474.1:c.114C>T	17.37:g.67513026C>T						MAP2K6_ENST00000589647.1_5'UTR	p.C38C	NM_002758.3	NP_002749.2	P52564	MP2K6_HUMAN			3	401	+	Breast(10;6.05e-10)		38						Silent	SNP	ENST00000590474.1	37	c.114C>T	CCDS11686.1																																																																																				0.363	MAP2K6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450689.1	NM_002758		5	106	0	0	0	0.000602	0	5	106					T	67513026	C	T	67513026	2	4	164	1	0	0	0	0	0	0	0	1	9241	718	25	3		3	MAP2K6	17	67513026	Silent	SNP	C	TCGA-G9-6363-01A-21D-1786-08	260729	67513026	13682184	47	7928											
PSG3	5671	broad.mit.edu	37	chr19	43237124	43237124	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	accacaggtagcttgcgtccGgagtctcaggatcacaggtt	9	9	12	11	2	2	0	2	0	1	0	4	2	3	2	2	4	2	3	2	4	1	3	rs368279604		TCGA-G9-6363-01A-21D-1786-08	TCGA-G9-6363-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78cd4d11-912a-4d29-b702-b04b9ad5528f	d0674198-9352-413f-98ab-cce0fa8b47f6	g.chr19:43237124G>A	ENST00000327495.5	-	3	705	c.521C>T	c.(520-522)cCg>cTg	p.P174L	PSG3_ENST00000595140.1_Missense_Mutation_p.P174L|PSG3_ENST00000490592.1_5'Flank	NM_021016.3	NP_066296.2	Q16557	PSG3_HUMAN	pregnancy specific beta-1-glycoprotein 3	174	Ig-like C2-type 1.				defense response (GO:0006952)|female pregnancy (GO:0007565)	extracellular region (GO:0005576)		p.P174L(1)		central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36		Prostate(69;0.00682)				GCTTGCGTCCGGAGTCTCAGG	0.522													.|||	1	0.000199681	0	0	5008	,	,		19496	0		0	False		,,,				2504	0.001					ENST00000327495.5																			1	Substitution - Missense(1)	p.P174L(1)	prostate(1)	central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36						c.(520-522)cCg>cTg		pregnancy specific beta-1-glycoprotein 3		G	LEU/PRO	1,4405		0,1,2202	212	209	210		521	0.4	0.1	19		210	0,8600		0,0,4300	no	missense	PSG3	NM_021016.3	98	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	174/429	43237124	1,13005	2203	4300	6503	SO:0001583	missense	5671				defense response|female pregnancy	extracellular region		g.chr19:43237124G>A		CCDS12611.1	19q13.2	2013-01-29			ENSG00000221826	ENSG00000221826		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	9520	protein-coding gene	gene with protein product		176392				2341148	Standard	NM_021016		Approved		uc002oue.3	Q16557	OTTHUMG00000151120	ENST00000327495.5:c.521C>T	19.37:g.43237124G>A	ENSP00000332215:p.Pro174Leu					PSG3_ENST00000595140.1_Missense_Mutation_p.P174L	p.P174L	NM_021016.3	NP_066296.2	Q16557	PSG3_HUMAN			3	705	-		Prostate(69;0.00682)	174			Ig-like C2-type 1.		Q08265|Q9BRW2|Q9UPL4|Q9UQ77	Missense_Mutation	SNP	ENST00000327495.5	37	c.521C>T	CCDS12611.1	.	.	.	.	.	.	.	.	.	.	-	5.464	0.270624	0.10349	2.27E-4	0.0	ENSG00000221826	ENST00000327495	T	0.18960	2.18	1.59	0.425	0.16473	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.22282	0.0537	M	0.79343	2.45	0.09310	N	1	B;B	0.20780	0.048;0.015	B;B	0.18263	0.021;0.009	T	0.28138	-1.0053	9	0.46703	T	0.11	.	4.465	0.11685	0.0:0.0:0.3551:0.6449	.	152;174	Q08266;Q16557	.;PSG3_HUMAN	L	174	ENSP00000332215:P174L	ENSP00000332215:P174L	P	-	2	0	PSG3	47928964	0.000000	0.05858	0.056000	0.19401	0.010000	0.07245	-0.254000	0.08781	-0.075000	0.12798	-0.868000	0.02995	CCG		0.522	PSG3-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321423.2	NM_021016		12	277	0	0	0	0.001855	0	12	277					A	43237124	G	A	43237124	3	1	164	1	0	0	0	0	1	0	0	0	12656	1116	39	2	781	2	PSG3	19	43237124	Missense_Mutation	SNP	G	TCGA-G9-6363-01A-21D-1786-08		43237124	15891859	48	7929											
SFRS16	11129	broad.mit.edu	37	chr19	45567373	45567375	+	In_Frame_Del	DEL	GAG	GAG	-																															ccagttttgggggcagcgatGaggaggcagccgcagccgct																										TCGA-G9-6363-01A-21D-1786-08	TCGA-G9-6363-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78cd4d11-912a-4d29-b702-b04b9ad5528f	d0674198-9352-413f-98ab-cce0fa8b47f6	g.chr19:45567373_45567375delGAG	ENST00000221455.3	+	12	1107_1109	c.1009_1011delGAG	c.(1009-1011)gagdel	p.E338del	CLASRP_ENST00000391953.4_In_Frame_Del_p.E276del|CLASRP_ENST00000544944.2_In_Frame_Del_p.E338del	NM_007056.2	NP_008987	Q8N2M8	CLASR_HUMAN	CLK4-associating serine/arginine rich protein	338					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|pancreas(2)|prostate(1)	16						GGGCAGCGATGAGGAGGCAGCCG	0.704																																						ENST00000544944.2																			0				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|pancreas(2)|prostate(1)	16						c.(1009-1011)del		CLK4-associating serine/arginine rich protein																																				SO:0001651	inframe_deletion	11129				mRNA processing|RNA splicing	nucleus		g.chr19:45567373_45567375delGAG	AF042800	CCDS12652.2, CCDS62710.1	19q13.3	2010-09-21	2010-09-21	2010-09-21	ENSG00000104859	ENSG00000104859			17731	protein-coding gene	gene with protein product	"Clk4 associating SR-related protein"		"splicing factor, arginine/serine-rich 16"	SFRS16		12169693	Standard	NM_007056		Approved	SWAP2, CLASP	uc002pak.3	Q8N2M8	OTTHUMG00000150189	ENST00000221455.3:c.1009_1011delGAG	19.37:g.45567376_45567378delGAG	ENSP00000221455:p.Glu338del					CLASRP_ENST00000391953.4_In_Frame_Del_p.E276del|CLASRP_ENST00000221455.3_In_Frame_Del_p.E338del	p.E338del			Q8N2M8	CLASR_HUMAN			11	1701_1703	+			338					B4DDT8|F8WAG9|O96026|Q6UW71|Q96DX2	In_Frame_Del	DEL	ENST00000221455.3	37	c.1009_1011delGAG	CCDS12652.2																																																																																				0.704	CLASRP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316749.1	NM_007056		7	35						7	35	---	---	---	---	-	45567375	GAG	-	45567373	7	5	164	1	0	1	0	1	0	0	0	0	14172	1291	45	0	1051	0	SFRS16	19	45567373	In_Frame_Del	DEL	GAG	TCGA-G9-6363-01A-21D-1786-08	2330249	45567373	13561610	49	7930											
HSPBP1	23640	broad.mit.edu	37	chr19	55789207	55789207	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acatggcctcctgcagccacTgacgcctctggagaccaagg	9	6	11	15	1	1	2	0	1	1	1	2	3	2	2	5	3	2	1	5	3	1	0	rs535068399		TCGA-G9-6363-01A-21D-1786-08	TCGA-G9-6363-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78cd4d11-912a-4d29-b702-b04b9ad5528f	d0674198-9352-413f-98ab-cce0fa8b47f6	g.chr19:55789207T>C	ENST00000255631.5	-	4	528	c.218A>G	c.(217-219)cAg>cGg	p.Q73R	HSPBP1_ENST00000587922.1_Missense_Mutation_p.Q73R|HSPBP1_ENST00000376343.3_Missense_Mutation_p.Q73R|HSPBP1_ENST00000433386.2_Missense_Mutation_p.Q73R	NM_001130106.1|NM_012267.4	NP_001123578.1|NP_036399.3	Q9NZL4	HPBP1_HUMAN	HSPA (heat shock 70kDa) binding protein, cytoplasmic cochaperone 1	76					negative regulation of catalytic activity (GO:0043086)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein ubiquitination (GO:0031398)|protein folding (GO:0006457)		enzyme inhibitor activity (GO:0004857)	p.Q73R(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)|urinary_tract(1)	8			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0452)		CTGCAGCCACTGACGCCTCTG	0.577													T|||	1	0.000199681	8e-04	0	5008	,	,		18536	0		0	False		,,,				2504	0					ENST00000255631.5																			1	Substitution - Missense(1)	p.Q73R(1)	prostate(1)	endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)|urinary_tract(1)	8						c.(217-219)cAg>cGg		HSPA (heat shock 70kDa) binding protein, cytoplasmic cochaperone 1							15	14	15					19																	55789207		2196	4285	6481	SO:0001583	missense	23640				positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein folding		enzyme inhibitor activity|protein binding	g.chr19:55789207T>C		CCDS33111.1	19q13.42	2008-12-16			ENSG00000133265	ENSG00000133265			24989	protein-coding gene	gene with protein product	"hsp70 interacting protein", "Hsp70 binding protein 1"	612939				10786638, 9830037	Standard	NM_001130106		Approved	HspBP1, FES1	uc002qkd.3	Q9NZL4		ENST00000255631.5:c.218A>G	19.37:g.55789207T>C	ENSP00000255631:p.Gln73Arg					HSPBP1_ENST00000587922.1_Missense_Mutation_p.Q73R|HSPBP1_ENST00000433386.2_Missense_Mutation_p.Q73R|HSPBP1_ENST00000376343.3_Missense_Mutation_p.Q73R	p.Q73R	NM_001130106.1|NM_012267.4	NP_001123578.1|NP_036399.3	Q9NZL4	HPBP1_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0452)	4	528	-			76					B3KQP0|B4DG11|O95351|Q6ZNU5	Missense_Mutation	SNP	ENST00000255631.5	37	c.218A>G	CCDS33111.1	.	.	.	.	.	.	.	.	.	.	T	11.65	1.700636	0.30142	.	.	ENSG00000133265	ENST00000433386;ENST00000255631;ENST00000376343	T;T;T	0.38401	1.14;1.14;1.14	4.53	4.53	0.55603	.	0.444987	0.24016	N	0.042332	T	0.29491	0.0735	N	0.10874	0.06	0.32634	N	0.521551	D;P;P;D	0.57899	0.981;0.952;0.952;0.981	P;P;P;P	0.53593	0.73;0.647;0.647;0.73	T	0.19549	-1.0302	10	0.18276	T	0.48	-6.7671	13.2817	0.60219	0.0:0.0:0.0:1.0	.	73;76;76;119	C9JNI7;Q9NZL4-2;Q9NZL4;B4DG11	.;.;HPBP1_HUMAN;.	R	73	ENSP00000398244:Q73R;ENSP00000255631:Q73R;ENSP00000365521:Q73R	ENSP00000255631:Q73R	Q	-	2	0	HSPBP1	60481019	1.000000	0.71417	1.000000	0.80357	0.831000	0.47069	3.400000	0.52594	2.046000	0.60703	0.533000	0.62120	CAG		0.577	HSPBP1-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452670.1	NM_012267		7	21	0	0	0	0.00308	0	7	21					C	55789207	T	C	55789207	3	2	164	1	0	0	0	0	1	0	0	0	7426	1580	55	4	885	4	HSPBP1	19	55789207	Missense_Mutation	SNP	T	TCGA-G9-6363-01A-21D-1786-08	10221834	55789207	3339776	50	7931											
BAGE2	85319	broad.mit.edu	37	chr21	11058322	11058322	+	RNA	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agtgcttacaaaatgcacatCgctgaaaggggtaaaggaga	16	7	12	6	1	0	2	0	1	0	1	1	3	0	2	0	3	3	4	0	3	6	2			TCGA-G9-6363-01A-21D-1786-08	TCGA-G9-6363-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78cd4d11-912a-4d29-b702-b04b9ad5528f	f9a7117d-d13d-40bb-9c4f-1e0105ba1928	g.chr21:11058322C>T	ENST00000470054.1	-	0	325							Q86Y30	BAGE2_HUMAN	B melanoma antigen family, member 2							extracellular region (GO:0005576)								Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		AAATGCACATCGCTGAAAGGG	0.383																																						ENST00000470054.1																			0													B melanoma antigen family, member 2							92	70	77					21																	11058322		692	1591	2283			85319							g.chr21:11058322C>T	AF218570		21p	2009-03-13			ENSG00000187172	ENSG00000187172			15723	protein-coding gene	gene with protein product	"cancer/testis antigen family 2, member 2"					12461691	Standard	NM_182482		Approved	CT2.2		Q86Y30	OTTHUMG00000074128		21.37:g.11058322C>T												Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	0	325	-								A8K925|Q08ER0	RNA	SNP	ENST00000470054.1	37																																																																																						0.383	BAGE2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000157417.3	NM_182482		10	184	0	0	0	0.008291	0	10	184					T	11058322	C	T	11058322	1	4	164	0	1	0	0	0	0	0	0	0	1292	898	31	2		2	BAGE2	21	11058322	RNA	SNP	C	TCGA-G9-6363-01A-21D-1786-08		11058322	37071573	51	7932											
KRTAP10-4	386672	broad.mit.edu	37	chr21	45993895	45993895	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ctgcaccagctcctgcacgcCctcgtgctgccagcagtcta	6	8	9	18	2	1	0	0	0	1	0	3	0	2	0	4	0	6	5	4	0	1	1			TCGA-G9-6363-01A-21D-1786-08	TCGA-G9-6363-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78cd4d11-912a-4d29-b702-b04b9ad5528f	d0674198-9352-413f-98ab-cce0fa8b47f6	g.chr21:45993895C>T	ENST00000400374.3	+	1	290	c.260C>T	c.(259-261)cCc>cTc	p.P87L	TSPEAR_ENST00000397916.1_5'Flank|TSPEAR_ENST00000323084.4_Intron	NM_198687.1	NP_941960.1	P60372	KR104_HUMAN	keratin associated protein 10-4	87	36 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)		p.P87L(1)		NS(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|prostate(1)	18						TCCTGCACGCCCTCGTGCTGC	0.682																																						ENST00000400374.3																			1	Substitution - Missense(1)	p.P87L(1)	prostate(1)	NS(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|prostate(1)	18						c.(259-261)cCc>cTc		keratin associated protein 10-4							12	19	17					21																	45993895		1997	4090	6087	SO:0001583	missense	386672					keratin filament		g.chr21:45993895C>T	AB076351	CCDS42957.1	21q22.3	2006-03-13	2004-07-12	2004-07-14	ENSG00000215454	ENSG00000215454		"Keratin associated proteins"	20521	protein-coding gene	gene with protein product			"keratin associated protein 18-4"	KRTAP18-4			Standard	NM_198687		Approved	KRTAP18.4, KAP10.4	uc002zfk.1	P60372	OTTHUMG00000057641	ENST00000400374.3:c.260C>T	21.37:g.45993895C>T	ENSP00000383225:p.Pro87Leu					TSPEAR_ENST00000323084.4_Intron	p.P87L	NM_198687.1	NP_941960.1	P60372	KR104_HUMAN			1	290	+			87			36 X 5 AA repeats of C-C-X(3).		Q08AS0	Missense_Mutation	SNP	ENST00000400374.3	37	c.260C>T	CCDS42957.1	.	.	.	.	.	.	.	.	.	.	N	11.14	1.551204	0.27739	.	.	ENSG00000215454	ENST00000400374;ENST00000334871	T	0.01025	5.43	3.55	3.55	0.40652	.	.	.	.	.	T	0.01940	0.0061	M	0.82517	2.595	0.09310	N	1	B	0.26081	0.141	B	0.23018	0.043	T	0.27806	-1.0063	9	0.87932	D	0	.	7.2328	0.26053	0.0:0.8692:0.0:0.1308	.	87	P60372	KR104_HUMAN	L	87;76	ENSP00000383225:P87L	ENSP00000333987:P76L	P	+	2	0	KRTAP10-4	44818323	0.231000	0.23751	0.033000	0.17914	0.719000	0.41307	2.079000	0.41577	1.689000	0.51079	0.479000	0.44913	CCC		0.682	KRTAP10-4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128045.1	NM_198687		16	85	0	0	0	0.007413	0	16	85					T	45993895	C	T	45993895	3	4	164	1	0	0	0	0	1	0	0	0	8511	623	22	3	262	3	KRTAP10-4	21	45993895	Missense_Mutation	SNP	C	TCGA-G9-6363-01A-21D-1786-08	34935573	45993895	2136000	52	7933											
KCNC4	3749	broad.mit.edu	37	chr1	110765671	110765671	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgaggcctttaatatcgaccGcaacgtgacagagatcctcc	11	9	9	12	3	0	3	0	2	0	1	3	5	2	3	4	1	1	1	4	1	3	3			TCGA-G9-6364-01A-21D-1786-08	TCGA-G9-6364-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a3d716-cd83-4012-91ec-ff5e45784c98	a820bb95-2a8f-46cf-b111-46f108dc789a	g.chr1:110765671G>A	ENST00000369787.3	+	2	791	c.764G>A	c.(763-765)cGc>cAc	p.R255H	KCNC4_ENST00000412512.2_Intron|KCNC4_ENST00000438661.2_Missense_Mutation_p.R255H|KCNC4_ENST00000413138.3_Missense_Mutation_p.R255H	NM_004978.4	NP_004969.2	Q03721	KCNC4_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 4	255					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of neurotransmitter secretion (GO:0046928)|synaptic transmission (GO:0007268)	axon terminus (GO:0043679)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)			central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(2)|lung(11)|ovary(1)|skin(2)	32		all_cancers(81;9.88e-06)|all_epithelial(167;3.23e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0238)|all cancers(265;0.0693)|Epithelial(280;0.0748)|Colorectal(144;0.112)|LUSC - Lung squamous cell carcinoma(189;0.135)		AATATCGACCGCAACGTGACA	0.567																																						ENST00000369787.3																			0				central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(2)|lung(11)|ovary(1)|skin(2)	32						c.(763-765)cGc>cAc		potassium voltage-gated channel, Shaw-related subfamily, member 4							184	155	165					1																	110765671		2203	4300	6503	SO:0001583	missense	3749				synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr1:110765671G>A	BC101769	CCDS821.1, CCDS44193.1	1p21	2012-07-05			ENSG00000116396	ENSG00000116396		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6236	protein-coding gene	gene with protein product		176265	"chromosome 1 open reading frame 30"	C1orf30		1920536, 1740329, 16382104	Standard	NM_004978		Approved	Kv3.4, HKSHIIIC	uc001dzh.3	Q03721	OTTHUMG00000011037	ENST00000369787.3:c.764G>A	1.37:g.110765671G>A	ENSP00000358802:p.Arg255His					KCNC4_ENST00000412512.2_Intron|KCNC4_ENST00000438661.2_Missense_Mutation_p.R255H|KCNC4_ENST00000413138.3_Missense_Mutation_p.R255H	p.R255H	NM_004978.4	NP_004969.2	Q03721	KCNC4_HUMAN		Lung(183;0.0238)|all cancers(265;0.0693)|Epithelial(280;0.0748)|Colorectal(144;0.112)|LUSC - Lung squamous cell carcinoma(189;0.135)	2	791	+		all_cancers(81;9.88e-06)|all_epithelial(167;3.23e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)	255					Q3MIM4|Q5TBI6	Missense_Mutation	SNP	ENST00000369787.3	37	c.764G>A	CCDS821.1	.	.	.	.	.	.	.	.	.	.	G	4.719	0.133637	0.09032	.	.	ENSG00000116396	ENST00000369787;ENST00000413138;ENST00000438661	D;D;D	0.97328	-4.34;-4.34;-4.33	4.75	4.75	0.60458	.	0.540574	0.19555	N	0.111477	D	0.89206	0.6649	N	0.21194	0.64	0.34053	D	0.656361	B;B;B	0.21071	0.015;0.051;0.003	B;B;B	0.17722	0.008;0.019;0.005	D	0.85497	0.1189	10	0.39692	T	0.17	.	10.2994	0.43644	0.0:0.135:0.7076:0.1574	.	255;255;255	Q03721;Q03721-3;Q03721-2	KCNC4_HUMAN;.;.	H	255	ENSP00000358802:R255H;ENSP00000388029:R255H;ENSP00000393655:R255H	ENSP00000358802:R255H	R	+	2	0	KCNC4	110567194	0.250000	0.23951	1.000000	0.80357	0.584000	0.36387	2.588000	0.46137	2.342000	0.79632	0.462000	0.41574	CGC		0.567	KCNC4-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000052146.2	NM_001039574		4	134	0	0	0	0.150653	0	4	134					A	110765671	G	A	110765671	3	1	165	1	0	0	0	0	1	0	0	0	8017	1087	38	1	770	1	KCNC4	1	110765671	Missense_Mutation	SNP	G	TCGA-G9-6364-01A-21D-1786-08		110765671	138484950	1	7934											
TPO	7173	broad.mit.edu	37	chr2	1499889	1499889	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	catggatgccttccaagtcgGcaaattccccgaagactttg	10	10	9	12	2	0	1	0	0	0	1	3	3	2	2	4	2	1	1	4	2	3	3			TCGA-G9-6364-01A-21D-1786-08	TCGA-G9-6364-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a3d716-cd83-4012-91ec-ff5e45784c98	a820bb95-2a8f-46cf-b111-46f108dc789a	g.chr2:1499889G>A	ENST00000345913.4	+	12	2226	c.2135G>A	c.(2134-2136)gGc>gAc	p.G712D	TPO_ENST00000346956.3_Missense_Mutation_p.G712D|TPO_ENST00000329066.4_Missense_Mutation_p.G712D|TPO_ENST00000382201.3_Missense_Mutation_p.G655D|TPO_ENST00000497517.2_Intron|TPO_ENST00000382198.1_Missense_Mutation_p.G539D|TPO_ENST00000337415.3_Missense_Mutation_p.G712D|TPO_ENST00000349624.3_Missense_Mutation_p.G539D	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN	thyroid peroxidase	712					cellular nitrogen compound metabolic process (GO:0034641)|embryonic hemopoiesis (GO:0035162)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide catabolic process (GO:0042744)|small molecule metabolic process (GO:0044281)|thyroid hormone generation (GO:0006590)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|heme binding (GO:0020037)|iodide peroxidase activity (GO:0004447)|peroxidase activity (GO:0004601)	p.G712D(1)		breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Dextrothyroxine(DB00509)|Methimazole(DB00763)|Propylthiouracil(DB00550)	TTCCAAGTCGGCAAATTCCCC	0.562																																						ENST00000345913.4																			1	Substitution - Missense(1)	p.G712D(1)	prostate(1)	breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95						c.(2134-2136)gGc>gAc		thyroid peroxidase	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)						65	63	64					2																	1499889		2203	4300	6503	SO:0001583	missense	7173				cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity	g.chr2:1499889G>A		CCDS1643.1, CCDS1644.1, CCDS1646.1	2p25	2008-02-05			ENSG00000115705	ENSG00000115705	1.11.1.7		12015	protein-coding gene	gene with protein product		606765					Standard	NM_175722		Approved	TPX	uc002qww.3	P07202	OTTHUMG00000090271	ENST00000345913.4:c.2135G>A	2.37:g.1499889G>A	ENSP00000318820:p.Gly712Asp					TPO_ENST00000346956.3_Missense_Mutation_p.G712D|TPO_ENST00000382198.1_Missense_Mutation_p.G539D|TPO_ENST00000382201.3_Missense_Mutation_p.G655D|TPO_ENST00000497517.2_Intron|TPO_ENST00000349624.3_Missense_Mutation_p.G539D|TPO_ENST00000337415.3_Missense_Mutation_p.G712D|TPO_ENST00000329066.4_Missense_Mutation_p.G712D	p.G712D	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	12	2226	+	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)	712					P09934|P09935|Q8IUL0|Q8NF94|Q8NF95|Q8NF96|Q8NF97|Q8TCI9	Missense_Mutation	SNP	ENST00000345913.4	37	c.2135G>A	CCDS1643.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.67|12.67	2.006722|2.006722	0.35415|0.35415	.|.	.|.	ENSG00000115705|ENSG00000115705	ENST00000446278|ENST00000337415;ENST00000345913;ENST00000346956;ENST00000349624;ENST00000329066;ENST00000382201;ENST00000382198;ENST00000422464;ENST00000469607	.|T;T;T;T;T;T;T;T;T	.|0.72725	.|-0.68;-0.68;-0.68;-0.68;-0.68;-0.68;-0.68;-0.68;-0.68	4.59|4.59	2.69|2.69	0.31865|0.31865	.|.	.|0.342412	.|0.35772	.|N	.|0.002998	T|T	0.80732|0.80732	0.4679|0.4679	M|M	0.75447|0.75447	2.3|2.3	0.80722|0.80722	D|D	1|1	.|D;D;D;D	.|0.76494	.|0.985;0.999;0.974;0.975	.|P;D;P;P	.|0.71414	.|0.897;0.973;0.795;0.793	T|T	0.78580|0.78580	-0.2149|-0.2149	5|10	.|0.42905	.|T	.|0.14	-12.3263|-12.3263	11.0847|11.0847	0.48080|0.48080	0.0:0.1398:0.7149:0.1453|0.0:0.1398:0.7149:0.1453	.|.	.|712;539;655;712	.|P07202-4;P07202-5;P07202-2;P07202	.|.;.;.;PERT_HUMAN	T|D	187|712;712;712;539;712;655;539;641;186	.|ENSP00000337263:G712D;ENSP00000318820:G712D;ENSP00000263886:G712D;ENSP00000332044:G539D;ENSP00000329869:G712D;ENSP00000371636:G655D;ENSP00000371633:G539D;ENSP00000405788:G641D;ENSP00000419461:G186D	.|ENSP00000329869:G712D	A|G	+|+	1|2	0|0	TPO|TPO	1478896|1478896	0.946000|0.946000	0.32159|0.32159	0.001000|0.001000	0.08648|0.08648	0.002000|0.002000	0.02628|0.02628	2.236000|2.236000	0.43052|0.43052	0.430000|0.430000	0.26230|0.26230	0.561000|0.561000	0.74099|0.74099	GCA|GGC		0.562	TPO-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206594.2	NM_000547		3	49	0	0	0	0.115264	0	3	49					A	1499889	G	A	1499889	3	1	165	1	0	0	0	0	1	0	0	0	16407	1203	42	3	2177	3	TPO	2	1499889	Missense_Mutation	SNP	G	TCGA-G9-6364-01A-21D-1786-08		1499889	241699484	2	7935											
CAPN13	92291	broad.mit.edu	37	chr2	30987143	30987143	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gggcatcctcgaggaagccaTagtgcagatcggaataggat	12	7	14	8	2	0	1	0	0	0	1	3	5	1	4	2	4	2	2	2	4	4	2			TCGA-G9-6364-01A-21D-1786-08	TCGA-G9-6364-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a3d716-cd83-4012-91ec-ff5e45784c98	a820bb95-2a8f-46cf-b111-46f108dc789a	g.chr2:30987143T>C	ENST00000295055.8	-	6	730	c.554A>G	c.(553-555)tAt>tGt	p.Y185C	CAPN13_ENST00000534090.2_Missense_Mutation_p.Y185C|CAPN13_ENST00000465960.2_5'UTR	NM_144575.2	NP_653176.2	Q6MZZ7	CAN13_HUMAN	calpain 13	185	Calpain catalytic. {ECO:0000255|PROSITE- ProRule:PRU00239}.				proteolysis (GO:0006508)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)	p.Y185C(2)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(1)	30	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.155)					GAGGAAGCCATAGTGCAGATC	0.577																																						ENST00000295055.8																			2	Substitution - Missense(2)	p.Y185C(2)	prostate(2)	NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(1)	30						c.(553-555)tAt>tGt		calpain 13							52	54	53					2																	30987143		2104	4213	6317	SO:0001583	missense	92291				proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity	g.chr2:30987143T>C		CCDS46252.1	2p22-p21	2008-02-05			ENSG00000162949	ENSG00000162949			16663	protein-coding gene	gene with protein product		610228				11675017	Standard	NM_144575		Approved	FLJ23523	uc021vfm.1	Q6MZZ7	OTTHUMG00000152053	ENST00000295055.8:c.554A>G	2.37:g.30987143T>C	ENSP00000295055:p.Tyr185Cys					CAPN13_ENST00000534090.2_Missense_Mutation_p.Y185C|CAPN13_ENST00000465960.2_5'UTR	p.Y185C	NM_144575.2	NP_653176.2	Q6MZZ7	CAN13_HUMAN			6	730	-	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.155)		185			Calpain catalytic.		Q17RF0|Q580X1|Q8TE80	Missense_Mutation	SNP	ENST00000295055.8	37	c.554A>G	CCDS46252.1	.	.	.	.	.	.	.	.	.	.	T	10.89	1.477937	0.26511	.	.	ENSG00000162949	ENST00000295055;ENST00000534090	D;D	0.87256	-2.23;-2.23	5.22	-0.378	0.12497	Peptidase C2, calpain, catalytic domain (3);	1.246410	0.05317	N	0.525951	D	0.89750	0.6805	M	0.62723	1.935	0.09310	N	1	D	0.89917	1.0	D	0.70935	0.971	T	0.74808	-0.3539	10	0.42905	T	0.14	.	1.2442	0.01969	0.1383:0.23:0.143:0.4887	.	185	Q6MZZ7	CAN13_HUMAN	C	185	ENSP00000295055:Y185C;ENSP00000431298:Y185C	ENSP00000295055:Y185C	Y	-	2	0	CAPN13	30840647	0.000000	0.05858	0.397000	0.26308	0.202000	0.24057	-0.386000	0.07370	0.266000	0.21894	0.379000	0.24179	TAT		0.577	CAPN13-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000325101.2	NM_144575		9	22	0	0	0	0.361761	0	9	22					C	30987143	T	C	30987143	3	2	165	1	0	0	0	0	1	0	0	0	2626	1406	49	4	1523	4	CAPN13	2	30987143	Missense_Mutation	SNP	T	TCGA-G9-6364-01A-21D-1786-08	29487254	30987143	212212230	3	7936											
SPTBN1	6711	broad.mit.edu	37	chr2	54753666	54753666	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacaatgagaacagctctgcGcggctttttgagcggtcccg	8	9	13	11	4	1	2	0	2	1	1	2	4	2	2	1	2	4	2	1	2	2	2			TCGA-G9-6364-01A-21D-1786-08	TCGA-G9-6364-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a3d716-cd83-4012-91ec-ff5e45784c98	a820bb95-2a8f-46cf-b111-46f108dc789a	g.chr2:54753666G>A	ENST00000356805.4	+	2	392	c.111G>A	c.(109-111)gcG>gcA	p.A37A	AC092839.3_ENST00000433475.1_RNA	NM_003128.2	NP_003119.2	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1	37	Actin-binding.				actin filament capping (GO:0051693)|axon guidance (GO:0007411)|Golgi to plasma membrane protein transport (GO:0043001)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|plasma membrane organization (GO:0007009)|protein targeting to plasma membrane (GO:0072661)	axolemma (GO:0030673)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|protein complex (GO:0043234)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin binding (GO:0003779)|ankyrin binding (GO:0030506)|phospholipid binding (GO:0005543)|poly(A) RNA binding (GO:0044822)|structural constituent of cytoskeleton (GO:0005200)	p.A37A(1)		NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	82			Lung(47;0.24)			ACAGCTCTGCGCGGCTTTTTG	0.532																																						ENST00000356805.4																			1	Substitution - coding silent(1)	p.A37A(1)	prostate(1)	NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	82						c.(109-111)gcG>gcA		spectrin, beta, non-erythrocytic 1							123	112	116					2																	54753666		2203	4300	6503	SO:0001819	synonymous_variant	0				actin filament capping|axon guidance	cytosol|nucleolus|plasma membrane|sarcomere|spectrin	actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton	g.chr2:54753666G>A		CCDS33198.1, CCDS33199.1	2p21	2013-01-10			ENSG00000115306	ENSG00000115306		"Pleckstrin homology (PH) domain containing"	11275	protein-coding gene	gene with protein product		182790					Standard	NM_003128		Approved		uc002rxu.3	Q01082	OTTHUMG00000133746	ENST00000356805.4:c.111G>A	2.37:g.54753666G>A						AC092839.3_ENST00000433475.1_RNA	p.A37A	NM_003128.2	NP_003119.2	Q01082	SPTB2_HUMAN	Lung(47;0.24)		2	392	+			37			Actin-binding.		B2RP63|O60837|Q16057|Q53R99|Q59ER3|Q8IX99	Silent	SNP	ENST00000356805.4	37	c.111G>A	CCDS33198.1																																																																																				0.532	SPTBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258115.3			16	54	0	0	0	0.520397	0	16	54					A	54753666	G	A	54753666	2	1	165	1	0	0	0	0	0	0	0	1	15118	1074	38	1		1	SPTBN1	2	54753666	Silent	SNP	G	TCGA-G9-6364-01A-21D-1786-08	23766523	54753666	188445707	4	7937											
DNAH7	56171	broad.mit.edu	37	chr2	196681466	196681467	+	Frame_Shift_Ins	INS	-	-	A																															gttggctaaatcagcaagagINSaaaaaaataggatggaagaa																								rs201637136		TCGA-G9-6364-01A-21D-1786-08	TCGA-G9-6364-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a3d716-cd83-4012-91ec-ff5e45784c98	a820bb95-2a8f-46cf-b111-46f108dc789a	g.chr2:196681466_196681467insA	ENST00000312428.6	-	51	9746_9747	c.9646_9647insT	c.(9646-9648)tctfs	p.S3216fs		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	3216					cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)	axonemal dynein complex (GO:0005858)|cilium (GO:0005929)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|microtubule motor activity (GO:0003777)			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						ATCAGCAAGAGAAAAAAATAGG	0.411																																						ENST00000312428.6																			0				NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						c.(9646-9648)tctfs		dynein, axonemal, heavy chain 7																																				SO:0001589	frameshift_variant	56171				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr2:196681466_196681467insA	AF327442	CCDS42794.1	2q33.1	2013-01-10	2006-09-04		ENSG00000118997	ENSG00000118997		"Axonemal dyneins", "EF-hand domain containing"	18661	protein-coding gene	gene with protein product		610061	"dynein, axonemal, heavy polypeptide 7"			9373155, 11877439	Standard	NM_018897		Approved	KIAA0944	uc002utj.4	Q8WXX0	OTTHUMG00000154438	ENST00000312428.6:c.9647dupT	2.37:g.196681473_196681473dupA	ENSP00000311273:p.Ser3216fs						p.S3216fs	NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN			51	9746_9747	-			3216					B8ZZX8|O00433|O95492|Q4G152|Q53QX7|Q53S64|Q53T02|Q68CY5|Q8N1Z2|Q9UMS3|Q9Y2F3	Frame_Shift_Ins	INS	ENST00000312428.6	37	c.9646_9647insT	CCDS42794.1																																																																																				0.411	DNAH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335202.3	NM_018897		12	95						12	95	---	---	---	---	A	196681467	-	A	196681466	7	5	165	1	0	1	1	0	0	0	0	0	4606	942	33	0	2487	0	DNAH7	2	196681466	Frame_Shift_Ins	INS	-	TCGA-G9-6364-01A-21D-1786-08	141927800	196681466	46517907	5	7938											
NGLY1	55768	broad.mit.edu	37	chr3	25778887	25778887	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggcagcacagtgtaaaacaaTtggcccactcgccacaccgt	12	6	9	14	2	0	0	0	0	0	0	1	0	0	0	3	2	2	3	3	2	3	2			TCGA-G9-6364-01A-21D-1786-08	TCGA-G9-6364-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a3d716-cd83-4012-91ec-ff5e45784c98	a820bb95-2a8f-46cf-b111-46f108dc789a	g.chr3:25778887T>C	ENST00000280700.5	-	6	1101	c.941A>G	c.(940-942)aAt>aGt	p.N314S	NGLY1_ENST00000422724.2_Missense_Mutation_p.I163V|NGLY1_ENST00000428257.1_Missense_Mutation_p.N314S|NGLY1_ENST00000396649.3_Missense_Mutation_p.N314S|NGLY1_ENST00000417874.2_Missense_Mutation_p.N272S	NM_018297.3	NP_060767.2	Q96IV0	NGLY1_HUMAN	N-glycanase 1	314					glycoprotein catabolic process (GO:0006516)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|peptide-N4-(N-acetyl-beta-glucosaminyl)asparagine amidase activity (GO:0000224)	p.N314S(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(2)|skin(1)	18						TGTAAAACAATTGGCCCACTC	0.413																																						ENST00000428257.1																			1	Substitution - Missense(1)	p.N314S(1)	prostate(1)	breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(2)|skin(1)	18						c.(940-942)aAt>aGt		N-glycanase 1							97	92	93					3																	25778887		2203	4300	6503	SO:0001583	missense	55768				glycoprotein catabolic process	cytoplasm	metal ion binding|peptide-N4-(N-acetyl-beta-glucosaminyl)asparagine amidase activity|protein binding	g.chr3:25778887T>C	AF250924	CCDS33719.1, CCDS46777.1, CCDS46778.1, CCDS46779.1	3p23	2006-08-30			ENSG00000151092	ENSG00000151092			17646	protein-coding gene	gene with protein product		610661					Standard	NM_018297		Approved	FLJ11005, PNG1	uc003cdl.3	Q96IV0	OTTHUMG00000155600	ENST00000280700.5:c.941A>G	3.37:g.25778887T>C	ENSP00000280700:p.Asn314Ser					NGLY1_ENST00000280700.5_Missense_Mutation_p.N314S|NGLY1_ENST00000417874.2_Missense_Mutation_p.N272S|NGLY1_ENST00000422724.2_Missense_Mutation_p.I163V|NGLY1_ENST00000396649.3_Missense_Mutation_p.N314S	p.N314S	NM_001145293.1	NP_001138765.1	Q96IV0	NGLY1_HUMAN			6	1048	-			314					B4DJE9|Q59FB1|Q6PJD8|Q9BVR8|Q9NR70	Missense_Mutation	SNP	ENST00000280700.5	37	c.941A>G	CCDS33719.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	18.46|18.46	3.629912|3.629912	0.67015|0.67015	.|.	.|.	ENSG00000151092|ENSG00000151092	ENST00000422724|ENST00000428257;ENST00000280700;ENST00000396649;ENST00000308710;ENST00000417874	.|T;T;T;T;T	.|0.19938	.|2.11;2.11;2.11;2.11;2.11	5.21|5.21	5.21|5.21	0.72293|0.72293	.|Transglutaminase-like (2);	.|0.039044	.|0.85682	.|D	.|0.000000	T|T	0.48205|0.48205	0.1487|0.1487	M|M	0.79258|0.79258	2.445|2.445	0.29190|0.29190	N|N	0.875941|0.875941	.|D;D;D;D	.|0.89917	.|1.0;1.0;1.0;1.0	.|D;D;D;D	.|0.97110	.|0.997;0.997;0.992;1.0	T|T	0.50625|0.50625	-0.8806|-0.8806	6|9	0.21014|.	T|.	0.42|.	-20.7453|-20.7453	15.3861|15.3861	0.74703|0.74703	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|272;314;314;314	.|B4DJE9;Q96IV0-2;Q96IV0-3;Q96IV0	.|.;.;.;NGLY1_HUMAN	V|S	163|314;314;314;311;272	.|ENSP00000387430:N314S;ENSP00000280700:N314S;ENSP00000379886:N314S;ENSP00000307980:N311S;ENSP00000389888:N272S	ENSP00000395878:I163V|.	I|N	-|-	1|2	0|0	NGLY1|NGLY1	25753891|25753891	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.990000|0.990000	0.78478|0.78478	7.769000|7.769000	0.85360|0.85360	2.073000|2.073000	0.62155|0.62155	0.533000|0.533000	0.62120|0.62120	ATT|AAT		0.413	NGLY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340832.2			8	61	0	0	0	0.307466	0	8	61					C	25778887	T	C	25778887	3	2	165	1	0	0	0	0	1	0	0	0	10398	1493	52	4	1147	4	NGLY1	3	25778887	Missense_Mutation	SNP	T	TCGA-G9-6364-01A-21D-1786-08		25778887	172243543	6	7939											
SLC34A2	10568	broad.mit.edu	37	chr4	25678365	25678365	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaaagaccgaatgcacggcCttgtaggggacgccccagat	11	6	12	12	3	1	2	1	0	0	2	1	4	1	3	4	3	1	2	4	3	3	2			TCGA-G9-6364-01A-21D-1786-08	TCGA-G9-6364-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a3d716-cd83-4012-91ec-ff5e45784c98	a820bb95-2a8f-46cf-b111-46f108dc789a	g.chr4:25678365C>T	ENST00000382051.3	+	13	2117	c.2067C>T	c.(2065-2067)gcC>gcT	p.A689A	SLC34A2_ENST00000504570.1_Silent_p.A688A|SLC34A2_ENST00000503434.1_Silent_p.A688A	NM_001177998.1|NM_006424.2	NP_001171469.1|NP_006415	O95436	NPT2B_HUMAN	solute carrier family 34 (type II sodium/phosphate contransporter), member 2	689					aging (GO:0007568)|cellular phosphate ion homeostasis (GO:0030643)|in utero embryonic development (GO:0001701)|ion transport (GO:0006811)|phosphate ion transmembrane transport (GO:0035435)|phosphate ion transport (GO:0006817)|response to estradiol (GO:0032355)|response to estrogen (GO:0043627)|response to fructose (GO:0009750)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|microvillus membrane (GO:0031528)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	phosphate ion binding (GO:0042301)|sodium ion binding (GO:0031402)|sodium-dependent phosphate transmembrane transporter activity (GO:0015321)|sodium:phosphate symporter activity (GO:0005436)	p.A689A(1)	SLC34A2/ROS1(14)	breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(4)	41		Breast(46;0.0503)				AATGCACGGCCTTGTAGGGGA	0.562			T	ROS1	NSCLC																																	ENST00000382051.3				Dom	yes		4	4p15.2	10568	T	"solute carrier family 34 (sodium phosphate), member 2"			E	ROS1		NSCLC	SLC34A2/ROS1(14)	1	Substitution - coding silent(1)	p.A689A(1)	prostate(1)	breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(4)	41						c.(2065-2067)gcC>gcT		solute carrier family 34 (type II sodium/phosphate contransporter), member 2							49	50	49					4																	25678365		2203	4300	6503	SO:0001819	synonymous_variant	10568				cellular phosphate ion homeostasis	apical plasma membrane|brush border membrane|integral to plasma membrane	phosphate binding|sodium ion binding|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity	g.chr4:25678365C>T	AF111856	CCDS3435.1, CCDS54750.1	4p15.2	2013-07-17	2013-07-17		ENSG00000157765	ENSG00000157765		"Solute carriers"	11020	protein-coding gene	gene with protein product		604217	"solute carrier family 34 (sodium phosphate), member 2"			10329428, 10610722	Standard	NM_006424		Approved	NAPI-3B	uc003grr.3	O95436	OTTHUMG00000097757	ENST00000382051.3:c.2067C>T	4.37:g.25678365C>T						SLC34A2_ENST00000504570.1_Silent_p.A688A|SLC34A2_ENST00000503434.1_Silent_p.A688A	p.A689A	NM_001177998.1|NM_006424.2	NP_001171469.1|NP_006415.2	O95436	NPT2B_HUMAN			13	2117	+		Breast(46;0.0503)	689					A5PL17|Q8N2K2|Q8WYA9|Q9P0V7	Silent	SNP	ENST00000382051.3	37	c.2067C>T	CCDS3435.1																																																																																				0.562	SLC34A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214990.1	NM_006424		12	56	0	0	0	0.411799	0	12	56					T	25678365	C	T	25678365	2	4	165	1	0	0	0	0	0	0	0	1	14568	668	24	3		3	SLC34A2	4	25678365	Silent	SNP	C	TCGA-G9-6364-01A-21D-1786-08		25678365	165475911	7	7940											
TMEM184C	55751	broad.mit.edu	37	chr4	148545026	148545026	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tggtttattgctggaatcttTttgctgttgactattcctat	6	21	8	6	0	1	1	0	1	1	0	2	2	2	2	1	2	2	4	1	2	4	9			TCGA-G9-6364-01A-21D-1786-08	TCGA-G9-6364-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a3d716-cd83-4012-91ec-ff5e45784c98	a820bb95-2a8f-46cf-b111-46f108dc789a	g.chr4:148545026T>G	ENST00000296582.3	+	2	739	c.165T>G	c.(163-165)ttT>ttG	p.F55L	TMEM184C_ENST00000508208.1_Missense_Mutation_p.F55L	NM_018241.2	NP_060711.2	Q9NVA4	T184C_HUMAN	transmembrane protein 184C	55						integral component of membrane (GO:0016021)		p.F55L(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(2)|prostate(1)	16						CTGGAATCTTTTTGCTGTTGA	0.323																																						ENST00000296582.3																			1	Substitution - Missense(1)	p.F55L(1)	prostate(1)	breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(2)|prostate(1)	16						c.(163-165)ttT>ttG		transmembrane protein 184C							134	132	133					4																	148545026		2202	4300	6502	SO:0001583	missense	55751					integral to membrane		g.chr4:148545026T>G	AF305823	CCDS3770.1	4q31.22	2008-06-05	2008-06-05	2008-06-05		ENSG00000164168			25587	protein-coding gene	gene with protein product		613937	"transmembrane protein 34"	TMEM34			Standard	NM_018241		Approved	FLJ10846	uc003ila.4	Q9NVA4		ENST00000296582.3:c.165T>G	4.37:g.148545026T>G	ENSP00000296582:p.Phe55Leu					TMEM184C_ENST00000508208.1_Missense_Mutation_p.F55L	p.F55L	NM_018241.2	NP_060711.2	Q9NVA4	T184C_HUMAN			2	739	+			55					D3DP04|Q86X84|Q969I7|Q9NXM2	Missense_Mutation	SNP	ENST00000296582.3	37	c.165T>G	CCDS3770.1	.	.	.	.	.	.	.	.	.	.	T	23.9	4.469537	0.84533	.	.	ENSG00000164168	ENST00000296582;ENST00000508208	T;T	0.47528	0.84;0.84	5.42	4.24	0.50183	.	0.000000	0.85682	D	0.000000	T	0.65760	0.2722	M	0.77616	2.38	0.58432	D	0.999999	D	0.71674	0.998	D	0.69654	0.965	T	0.66748	-0.5845	10	0.48119	T	0.1	-23.7472	11.2847	0.49216	0.0:0.0718:0.0:0.9282	.	55	Q9NVA4	T184C_HUMAN	L	55	ENSP00000296582:F55L;ENSP00000425940:F55L	ENSP00000296582:F55L	F	+	3	2	TMEM184C	148764476	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.847000	0.48270	1.004000	0.39156	0.455000	0.32223	TTT		0.323	TMEM184C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364644.1	NM_018241		23	66	0	0	0	0.654019	0	23	66					G	148545026	T	G	148545026	3	3	165	1	0	0	0	0	1	0	0	0	16103	1838	64	5	171	5	TMEM184C	4	148545026	Missense_Mutation	SNP	T	TCGA-G9-6364-01A-21D-1786-08	122866661	148545026	42609250	8	7941											
DDX60L	91351	broad.mit.edu	37	chr4	169300651	169300651	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gattaccctttttatttaaaTagtcctaaaaatgagaaaca	17	14	4	6	0	0	1	0	1	0	1	1	3	1	1	2	0	2	0	2	0	9	8			TCGA-G9-6364-01A-21D-1786-08	TCGA-G9-6364-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a3d716-cd83-4012-91ec-ff5e45784c98	a820bb95-2a8f-46cf-b111-46f108dc789a	g.chr4:169300651T>C	ENST00000511577.1	-	32	4473	c.4226A>G	c.(4225-4227)tAt>tGt	p.Y1409C	DDX60L_ENST00000260184.7_Missense_Mutation_p.Y1409C			Q5H9U9	DDX6L_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like	1409							ATP binding (GO:0005524)|helicase activity (GO:0004386)|RNA binding (GO:0003723)	p.Y1409C(1)|p.Y1410C(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.175)		TTTATTTAAATAGTCCTAAAA	0.303																																						ENST00000511577.1																			2	Substitution - Missense(2)	p.Y1409C(1)|p.Y1410C(1)	prostate(2)	breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43						c.(4225-4227)tAt>tGt		DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like							27	28	28					4																	169300651		1808	4071	5879	SO:0001583	missense	91351						ATP binding|ATP-dependent helicase activity|RNA binding	g.chr4:169300651T>C	AK092461	CCDS47161.1	4q32.3	2008-01-08				ENSG00000181381			26429	protein-coding gene	gene with protein product							Standard	XM_005263341		Approved	FLJ31033	uc003irq.4	Q5H9U9		ENST00000511577.1:c.4226A>G	4.37:g.169300651T>C	ENSP00000422423:p.Tyr1409Cys					DDX60L_ENST00000260184.7_Missense_Mutation_p.Y1409C	p.Y1409C			Q5H9U9	DDX6L_HUMAN		GBM - Glioblastoma multiforme(119;0.175)	32	4473	-		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)	1409					Q96ND6	Missense_Mutation	SNP	ENST00000511577.1	37	c.4226A>G		.	.	.	.	.	.	.	.	.	.	T	13.35	2.210380	0.39003	.	.	ENSG00000181381	ENST00000260184;ENST00000511577	T;T	0.19669	2.13;2.13	3.51	2.26	0.28386	.	.	.	.	.	T	0.41673	0.1169	M	0.75447	2.3	0.18873	N	0.999983	D	0.89917	1.0	D	0.69142	0.962	T	0.14117	-1.0484	9	0.54805	T	0.06	.	8.7263	0.34471	0.1704:0.0:0.0:0.8296	.	1409	Q5H9U9	DDX6L_HUMAN	C	1409	ENSP00000260184:Y1409C;ENSP00000422423:Y1409C	ENSP00000260184:Y1409C	Y	-	2	0	DDX60L	169537226	1.000000	0.71417	0.005000	0.12908	0.202000	0.24057	2.202000	0.42743	0.321000	0.23259	0.254000	0.18369	TAT		0.303	DDX60L-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000364839.1	NM_001012967		11	15	0	0	0	0.38729	0	11	15					C	169300651	T	C	169300651	3	2	165	1	0	0	0	0	1	0	0	0	4379	1406	49	4	922	4	DDX60L	4	169300651	Missense_Mutation	SNP	T	TCGA-G9-6364-01A-21D-1786-08	20755625	169300651	21853625	9	7942											
GRM4	2914	broad.mit.edu	37	chr6	34004179	34004179	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gatgggccggcagcccgtgcGgttctctgtgggccgcatgt	3	9	17	12	4	1	0	0	0	1	0	2	1	1	0	3	4	2	3	3	4	0	1			TCGA-G9-6364-01A-21D-1786-08	TCGA-G9-6364-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a3d716-cd83-4012-91ec-ff5e45784c98	a820bb95-2a8f-46cf-b111-46f108dc789a	g.chr6:34004179G>A	ENST00000538487.2	-	9	2151	c.1708C>T	c.(1708-1710)Cgc>Tgc	p.R570C	GRM4_ENST00000609222.1_Missense_Mutation_p.R437C|GRM4_ENST00000535756.1_Missense_Mutation_p.R437C|GRM4_ENST00000545715.1_5'UTR|GRM4_ENST00000544773.2_Missense_Mutation_p.R401C|GRM4_ENST00000455714.2_Missense_Mutation_p.R430C|GRM4_ENST00000374177.3_Missense_Mutation_p.R454C|GRM4_ENST00000374181.4_Missense_Mutation_p.R570C	NM_000841.2|NM_001256811.1	NP_000832.1|NP_001243740.1	Q14833	GRM4_HUMAN	glutamate receptor, metabotropic 4	570					activation of MAPK activity (GO:0000187)|adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|learning (GO:0007612)|neurotransmitter secretion (GO:0007269)|positive regulation of MAPK cascade (GO:0043410)|regulation of neuron apoptotic process (GO:0043523)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)	cytoplasmic vesicle (GO:0031410)|dendritic shaft (GO:0043198)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|presynaptic active zone membrane (GO:0048787)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)	p.R570C(2)|p.R454C(1)		NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						CAGCCCGTGCGGTTCTCTGTG	0.652																																						ENST00000374181.3																			3	Substitution - Missense(3)	p.R570C(2)|p.R454C(1)	prostate(3)	NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						c.(1708-1710)Cgc>Tgc		glutamate receptor, metabotropic 4	L-Glutamic Acid(DB00142)						53	47	49					6																	34004179		2203	4300	6503	SO:0001583	missense	2914				activation of MAPK activity|inhibition of adenylate cyclase activity by metabotropic glutamate receptor signaling pathway|neuroprotection|neurotransmitter secretion|positive regulation of MAPKKK cascade	cytoplasmic vesicle|integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	g.chr6:34004179G>A	U92457	CCDS4787.1, CCDS59010.1, CCDS59011.1, CCDS59012.1, CCDS75432.1	6p21.3	2012-08-29			ENSG00000124493	ENSG00000124493		"GPCR / Class C : Glutamate receptors, metabotropic", "Glutamate receptors"	4596	protein-coding gene	gene with protein product		604100				8738157, 9473604	Standard	NM_000841		Approved	GPRC1D, mGlu4, MGLUR4	uc010jvh.4	Q14833	OTTHUMG00000014538	ENST00000538487.2:c.1708C>T	6.37:g.34004179G>A	ENSP00000440556:p.Arg570Cys					GRM4_ENST00000455714.2_Missense_Mutation_p.R430C|GRM4_ENST00000544773.1_Missense_Mutation_p.R401C|GRM4_ENST00000538487.1_Missense_Mutation_p.R570C|GRM4_ENST00000545715.1_Missense_Mutation_p.R262C|GRM4_ENST00000535756.1_Missense_Mutation_p.R437C|GRM4_ENST00000374177.3_Missense_Mutation_p.R454C	p.R570C	NM_001256810.1	NP_001243739.1	Q14833	GRM4_HUMAN			8	1877	-			570					B3KVL9|B7Z1T9|B7Z1U6|F5GXM5|Q5SZ84|Q6ZMQ2	Missense_Mutation	SNP	ENST00000538487.2	37	c.1708C>T	CCDS4787.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.953696	0.73902	.	.	ENSG00000124493	ENST00000374181;ENST00000374177;ENST00000545715;ENST00000535756;ENST00000544773;ENST00000538487;ENST00000455714	D;D;D;D;D;D;D	0.90197	-2.62;-2.63;-2.37;-2.42;-2.44;-2.62;-2.46	4.81	4.81	0.61882	.	0.108147	0.64402	D	0.000005	D	0.92964	0.7761	M	0.80422	2.495	0.52099	D	0.999941	P;P;D;D;P	0.65815	0.897;0.897;0.995;0.991;0.94	B;B;P;B;B	0.53861	0.203;0.191;0.736;0.446;0.134	D	0.93761	0.7067	10	0.72032	D	0.01	.	17.6697	0.88213	0.0:0.0:1.0:0.0	.	523;401;430;570;437	B7ZLU9;B7Z1T9;F5GXM5;Q14833;B3KVL9	.;.;.;GRM4_HUMAN;.	C	570;454;262;437;401;570;430	ENSP00000363296:R570C;ENSP00000363292:R454C;ENSP00000445533:R262C;ENSP00000437925:R437C;ENSP00000437730:R401C;ENSP00000440556:R570C;ENSP00000398456:R430C	ENSP00000363292:R454C	R	-	1	0	GRM4	34112157	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	7.653000	0.83643	2.494000	0.84150	0.448000	0.29417	CGC		0.652	GRM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040213.2			15	38	0	0	0	0.520397	0	15	38					A	34004179	G	A	34004179	3	1	165	1	0	0	0	0	1	0	0	0	6799	1116	39	2	1042	2	GRM4	6	34004179	Missense_Mutation	SNP	G	TCGA-G9-6364-01A-21D-1786-08		34004179	137110888	10	7943											
BEND6	221336	broad.mit.edu	37	chr6	56882125	56882125	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ccactcacagcctgacagggGcaaaatcctctacttcaagg	12	7	8	14	0	3	1	2	1	1	0	4	1	4	1	3	3	2	1	3	3	4	2			TCGA-G9-6364-01A-21D-1786-08	TCGA-G9-6364-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a3d716-cd83-4012-91ec-ff5e45784c98	a820bb95-2a8f-46cf-b111-46f108dc789a	g.chr6:56882125G>A	ENST00000370746.3	+	5	909	c.640G>A	c.(640-642)Gca>Aca	p.A214T	BEND6_ENST00000484701.1_3'UTR|BEND6_ENST00000545789.1_Missense_Mutation_p.A116T|BEND6_ENST00000370750.2_3'UTR	NM_152731.2	NP_689944.2	Q5SZJ8	BEND6_HUMAN	BEN domain containing 6	214	BEN. {ECO:0000255|PROSITE- ProRule:PRU00784}.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)		RNA polymerase II transcription corepressor activity (GO:0001106)	p.A214T(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)	17						CCTGACAGGGGCAAAATCCTC	0.388																																						ENST00000370746.3																			1	Substitution - Missense(1)	p.A214T(1)	prostate(1)	endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)	17						c.(640-642)Gca>Aca		BEN domain containing 6							81	75	77					6																	56882125		1912	4129	6041	SO:0001583	missense	221336							g.chr6:56882125G>A	AK054724	CCDS43476.1	6p12.1	2012-11-22	2008-10-03	2008-10-03	ENSG00000151917	ENSG00000151917		"BEN domain containing"	20871	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 65"	C6orf65			Standard	NM_152731		Approved	FLJ30162, bA203B9.1	uc010kab.3	Q5SZJ8	OTTHUMG00000014914	ENST00000370746.3:c.640G>A	6.37:g.56882125G>A	ENSP00000359782:p.Ala214Thr					BEND6_ENST00000370750.2_3'UTR|BEND6_ENST00000545789.1_Missense_Mutation_p.A116T|BEND6_ENST00000484701.1_3'UTR	p.A214T	NM_152731.2	NP_689944.2	Q5SZJ8	BEND6_HUMAN			5	909	+			214			BEN.		Q4G0W8|Q8N662|Q96NS6	Missense_Mutation	SNP	ENST00000370746.3	37	c.640G>A	CCDS43476.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	37|37	5.997249|5.997249	0.97184|0.97184	.|.	.|.	ENSG00000151917|ENSG00000151917	ENST00000322055|ENST00000370746;ENST00000545789	.|T;T	.|0.42900	.|0.96;0.96	4.78|4.78	4.78|4.78	0.61160|0.61160	.|BEN domain (2);	.|0.116326	.|0.38272	.|N	.|0.001746	.|T	.|0.31702	.|0.0805	N|N	0.08118|0.08118	0|0	0.40653|0.40653	D|D	0.982055|0.982055	.|D;D	.|0.69078	.|0.997;0.996	.|D;D	.|0.83275	.|0.996;0.99	.|T	.|0.27123	.|-1.0083	.|9	.|.	.|.	.|.	.|-21.5422	15.1125|15.1125	0.72368|0.72368	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|214;116	.|Q5SZJ8;Q5SZJ8-3	.|BEND6_HUMAN;.	.|T	-1|214;116	.|ENSP00000359782:A214T;ENSP00000439320:A116T	.|.	.|A	+|+	.|1	.|0	BEND6|BEND6	56990084|56990084	1.000000|1.000000	0.71417|0.71417	0.989000|0.989000	0.46669|0.46669	0.986000|0.986000	0.74619|0.74619	4.384000|4.384000	0.59607|0.59607	2.490000|2.490000	0.84030|0.84030	0.491000|0.491000	0.48974|0.48974	.|GCA		0.388	BEND6-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041032.4	NM_152731		3	30	0	0	0	0.115264	0	3	30					A	56882125	G	A	56882125	3	1	165	1	0	0	0	0	1	0	0	0	1402	1203	42	3	654	3	BEND6	6	56882125	Missense_Mutation	SNP	G	TCGA-G9-6364-01A-21D-1786-08	22877946	56882125	114232942	11	7944											
ZAN	7455	broad.mit.edu	37	chr7	100349724	100349724	+	RNA	DEL	G	G	-																															aagagcccaccacccccactGaggagaccaccacctccatg																										TCGA-G9-6364-01A-21D-1786-08	TCGA-G9-6364-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a3d716-cd83-4012-91ec-ff5e45784c98	a820bb95-2a8f-46cf-b111-46f108dc789a	g.chr7:100349724delG	ENST00000348028.3	+	0	2161				ZAN_ENST00000546213.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000542585.1_RNA|ZAN_ENST00000349350.6_RNA			Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida (GO:0007339)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			CACCCCCACTGAGGAGACCAC	0.537																																						ENST00000542585.1																			0				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139								zonadhesin (gene/pseudogene)							172	196	188					7																	100349724		1891	4114	6005			7455				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane		g.chr7:100349724delG	U83191		7q22.1	2013-10-10	2013-10-10		ENSG00000146839	ENSG00000146839			12857	protein-coding gene	gene with protein product		602372	"zonadhesin"			9799793, 17033959	Standard	NM_003386		Approved		uc003uwk.3	Q9Y493	OTTHUMG00000157037		7.37:g.100349724delG						ZAN_ENST00000443370.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000427578.1_RNA		NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	STAD - Stomach adenocarcinoma(171;0.19)		0	2144	+	Lung NSC(181;0.041)|all_lung(186;0.0581)							A0FKC8|D6W5W4|O00218|Q96L85|Q96L86|Q96L87|Q96L88|Q96L89|Q96L90|Q9BXN9|Q9BZ83|Q9BZ84|Q9BZ85|Q9BZ86|Q9BZ87|Q9BZ88	RNA	DEL	ENST00000348028.3	37																																																																																						0.537	ZAN-006	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000347214.1	NM_003386		15	34						15	34	---	---	---	---	-	100349724	G	-	100349724	6	5	165	0	1	1	0	1	0	0	0	0	17510	1291	45	0		0	ZAN	7	100349724	RNA	DEL	G	TCGA-G9-6364-01A-21D-1786-08		100349724	58788939	12	7945											
FZD6	8323	broad.mit.edu	37	chr8	104340556	104340556	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	taaaatacctgatgacattaAttgttggcatctctgctgtc	11	15	7	8	0	1	2	0	2	1	0	3	2	1	2	1	1	2	3	1	1	4	5			TCGA-G9-6364-01A-21D-1786-08	TCGA-G9-6364-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a3d716-cd83-4012-91ec-ff5e45784c98	a820bb95-2a8f-46cf-b111-46f108dc789a	g.chr8:104340556A>G	ENST00000358755.4	+	5	1770	c.1453A>G	c.(1453-1455)Att>Gtt	p.I485V	FZD6_ENST00000540287.1_Missense_Mutation_p.I180V|FZD6_ENST00000523739.1_Missense_Mutation_p.I453V|FZD6_ENST00000522566.1_Missense_Mutation_p.I485V	NM_001164616.1|NM_003506.3	NP_001158088.1|NP_003497.2	O60353	FZD6_HUMAN	frizzled class receptor 6	485					angiogenesis (GO:0001525)|axonogenesis (GO:0007409)|cell proliferation in midbrain (GO:0033278)|embryonic nail plate morphogenesis (GO:0035880)|establishment of planar polarity (GO:0001736)|G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:0007199)|gonad development (GO:0008406)|hair follicle development (GO:0001942)|inner ear morphogenesis (GO:0042472)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|neural tube closure (GO:0001843)|non-canonical Wnt signaling pathway (GO:0035567)|platelet activation (GO:0030168)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	apical part of cell (GO:0045177)|apicolateral plasma membrane (GO:0016327)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|neuron projection membrane (GO:0032589)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|ubiquitin protein ligase binding (GO:0031625)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)	p.I485V(1)		central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	24			OV - Ovarian serous cystadenocarcinoma(57;2.86e-05)|STAD - Stomach adenocarcinoma(118;0.197)			GATGACATTAATTGTTGGCAT	0.358																																						ENST00000358755.4																			1	Substitution - Missense(1)	p.I485V(1)	prostate(1)	central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	24						c.(1453-1455)Att>Gtt		frizzled family receptor 6							106	111	110					8																	104340556		2203	4300	6503	SO:0001583	missense	8323				angiogenesis|axonogenesis|cell proliferation in midbrain|establishment of planar polarity|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|inner ear morphogenesis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of sequence-specific DNA binding transcription factor activity|neural tube closure|non-canonical Wnt receptor signaling pathway	apical part of cell|apicolateral plasma membrane|cytoplasm|integral to plasma membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding	g.chr8:104340556A>G	AB012911	CCDS6298.1, CCDS55268.1	8q22.3-q23.1	2014-01-29	2014-01-29		ENSG00000164930	ENSG00000164930		"GPCR / Class F : Frizzled receptors"	4044	protein-coding gene	gene with protein product		603409	"frizzled (Drosophila) homolog 6", "frizzled homolog 6 (Drosophila)", "frizzled 6, seven transmembrane spanning receptor", "frizzled family receptor 6"			9480858, 14747478	Standard	NM_003506		Approved	Hfz6	uc003ylh.3	O60353	OTTHUMG00000164840	ENST00000358755.4:c.1453A>G	8.37:g.104340556A>G	ENSP00000351605:p.Ile485Val					FZD6_ENST00000540287.1_Missense_Mutation_p.I180V|FZD6_ENST00000523739.1_Missense_Mutation_p.I453V|FZD6_ENST00000522566.1_Missense_Mutation_p.I485V	p.I485V	NM_001164616.1|NM_003506.3	NP_001158088.1|NP_003497.2	O60353	FZD6_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;2.86e-05)|STAD - Stomach adenocarcinoma(118;0.197)		5	1770	+			485					B4DRN0|Q6N0A5|Q6P9C3|Q8WXR9	Missense_Mutation	SNP	ENST00000358755.4	37	c.1453A>G	CCDS6298.1	.	.	.	.	.	.	.	.	.	.	A	11.53	1.665214	0.29604	.	.	ENSG00000164930	ENST00000522566;ENST00000358755;ENST00000523739;ENST00000540287;ENST00000539487	T;T;T;T	0.80909	-1.43;-1.43;-1.43;-1.43	5.31	5.31	0.75309	GPCR, family 2-like (1);	0.106321	0.64402	D	0.000004	T	0.61565	0.2357	N	0.04373	-0.215	0.42222	D	0.991855	B;B;B;B	0.27625	0.106;0.183;0.122;0.181	B;B;B;B	0.30782	0.08;0.12;0.064;0.08	T	0.61382	-0.7074	10	0.07482	T	0.82	.	15.5551	0.76187	1.0:0.0:0.0:0.0	.	430;180;485;485	B4E236;F5H831;B2R9H9;O60353	.;.;.;FZD6_HUMAN	V	485;485;453;180;430	ENSP00000429055:I485V;ENSP00000351605:I485V;ENSP00000429528:I453V;ENSP00000443757:I180V	ENSP00000351605:I485V	I	+	1	0	FZD6	104409732	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.846000	0.69444	2.125000	0.65367	0.383000	0.25322	ATT		0.358	FZD6-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380560.1	NM_003506		14	47	0	0	0	0.479597	0	14	47					G	104340556	A	G	104340556	3	3	165	1	0	0	0	0	1	0	0	0	6134	101	4	4	1467	4	FZD6	8	104340556	Missense_Mutation	SNP	A	TCGA-G9-6364-01A-21D-1786-08		104340556	42023466	13	7946											
TLE4	7091	broad.mit.edu	37	chr9	82320809	82320809	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cacttgtcaatgcaggacagCgatggtgagaaaagtgatga	14	8	13	6	1	1	3	1	3	0	1	1	6	1	4	0	2	2	1	0	2	3	1			TCGA-G9-6364-01A-21D-1786-08	TCGA-G9-6364-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a3d716-cd83-4012-91ec-ff5e45784c98	a820bb95-2a8f-46cf-b111-46f108dc789a	g.chr9:82320809C>T	ENST00000376552.2	+	10	1753	c.735C>T	c.(733-735)agC>agT	p.S245S	TLE4_ENST00000265284.6_Silent_p.S220S|TLE4_ENST00000376544.3_Intron|TLE4_ENST00000376537.4_Silent_p.S245S|TLE4_ENST00000376520.4_Silent_p.S245S|TLE4_ENST00000376534.4_5'UTR	NM_007005.3	NP_008936.2	Q04727	TLE4_HUMAN	transducin-like enhancer of split 4	245	CCN domain.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|Wnt signaling pathway (GO:0016055)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|transcription corepressor activity (GO:0003714)	p.S245S(2)		breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	39						TGCAGGACAGCGATGGTGAGA	0.398																																						ENST00000376520.4																			2	Substitution - coding silent(2)	p.S245S(2)	prostate(2)	breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	39						c.(733-735)agC>agT		transducin-like enhancer of split 4 (E(sp1) homolog, Drosophila)							308	304	305					9																	82320809		1972	4175	6147	SO:0001819	synonymous_variant	7091							g.chr9:82320809C>T	M99439	CCDS43837.1, CCDS65069.1, CCDS65070.1, CCDS75851.1	9q21.32	2014-03-07	2014-03-07		ENSG00000106829	ENSG00000106829		"WD repeat domain containing"	11840	protein-coding gene	gene with protein product		605132	"transducin-like enhancer of split 4, homolog of Drosophila E(sp1)", "transducin-like enhancer of split 4 (E(sp1) homolog, Drosophila)"			8365415	Standard	XM_005252167		Approved	E(spI), ESG, GRG4	uc004alc.3	Q04727	OTTHUMG00000020072	ENST00000376552.2:c.735C>T	9.37:g.82320809C>T						TLE4_ENST00000376544.3_Intron|TLE4_ENST00000376534.4_5'UTR|TLE4_ENST00000376552.2_Silent_p.S245S|TLE4_ENST00000265284.6_Silent_p.S220S|TLE4_ENST00000376537.4_Silent_p.S245S	p.S245S			O60756	BCE1_HUMAN			10	1563	+			0					F8W6T6|Q3ZCS1|Q5T1Y2|Q6PCB3|Q9BZ07|Q9BZ08|Q9BZ09|Q9NSL3|Q9ULF9	Silent	SNP	ENST00000376552.2	37	c.735C>T	CCDS43837.1	.	.	.	.	.	.	.	.	.	.	C	7.218	0.596880	0.13875	.	.	ENSG00000106829	ENST00000496114	.	.	.	5.97	-7.78	0.01223	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-18.3241	20.8932	0.99940	0.0:0.2288:0.0:0.7712	.	.	.	.	X	36	.	.	R	+	1	2	TLE4	81510629	0.008000	0.16893	0.269000	0.24586	0.806000	0.45545	-1.295000	0.02764	-1.787000	0.01268	-0.964000	0.02622	CGA		0.398	TLE4-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052792.4	XM_212237		6	129	0	0	0	0.248553	0	6	129					T	82320809	C	T	82320809	2	4	165	1	0	0	0	0	0	0	0	1	15938	767	27	1		1	TLE4	9	82320809	Silent	SNP	C	TCGA-G9-6364-01A-21D-1786-08		82320809	58892622	14	7947											
SLK	9748	broad.mit.edu	37	chr10	105761232	105761232	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ttactgttgattccaacaaaCccatccgagaattgattgca	13	12	6	10	1	0	3	0	2	0	1	2	4	2	3	3	0	4	2	3	0	4	5			TCGA-G9-6364-01A-21D-1786-08	TCGA-G9-6364-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a3d716-cd83-4012-91ec-ff5e45784c98	a820bb95-2a8f-46cf-b111-46f108dc789a	g.chr10:105761232C>A	ENST00000369755.3	+	8	1440	c.895C>A	c.(895-897)Ccc>Acc	p.P299T	SLK_ENST00000335753.4_Missense_Mutation_p.P299T	NM_014720.2	NP_055535.2	Q9H2G2	SLK_HUMAN	STE20-like kinase	299					apoptotic process (GO:0006915)|protein autophosphorylation (GO:0046777)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activity (GO:0004674)	p.P299T(1)		kidney(1)|lung(1)|ovary(2)|skin(2)|stomach(2)	8		Colorectal(252;0.178)		Epithelial(162;5.81e-10)|all cancers(201;2.35e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		TTCCAACAAACCCATCCGAGA	0.388																																					NSCLC(111;540 1651 1927 4474 17706)	ENST00000369755.3																			1	Substitution - Missense(1)	p.P299T(1)	prostate(1)	kidney(1)|lung(1)|ovary(2)|skin(2)|stomach(2)	8						c.(895-897)Ccc>Acc		STE20-like kinase							100	87	91					10																	105761232		2203	4300	6503	SO:0001583	missense	9748				apoptosis|nucleotide-excision repair	cytoplasm|plasma membrane	ATP binding|DNA binding|nuclease activity|protein serine/threonine kinase activity	g.chr10:105761232C>A		CCDS7553.1	10q25.1	2010-06-25	2010-06-25		ENSG00000065613	ENSG00000065613			11088	protein-coding gene	gene with protein product			"SNF1 (sucrose nonfermenting, yeast, homolog)-like kinase, SNF1 sucrose nonfermenting like kinase (yeast)", "STE20-like kinase (yeast)"			3526554	Standard	NM_014720		Approved	STK2, se20-9, KIAA0204	uc001kxo.1	Q9H2G2	OTTHUMG00000018999	ENST00000369755.3:c.895C>A	10.37:g.105761232C>A	ENSP00000358770:p.Pro299Thr					SLK_ENST00000335753.4_Missense_Mutation_p.P299T	p.P299T	NM_014720.2	NP_055535.2	Q9H2G2	SLK_HUMAN		Epithelial(162;5.81e-10)|all cancers(201;2.35e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)	8	1440	+		Colorectal(252;0.178)	299					D3DRA0|D3DRA1|O00211|Q6P1Z4|Q86WU7|Q86WW1|Q92603|Q9NQL0|Q9NQL1	Missense_Mutation	SNP	ENST00000369755.3	37	c.895C>A	CCDS7553.1	.	.	.	.	.	.	.	.	.	.	C	24.6	4.550650	0.86127	.	.	ENSG00000065613	ENST00000335753;ENST00000369755	T;T	0.21191	2.02;2.02	5.33	5.33	0.75918	Protein kinase-like domain (1);	0.000000	0.85682	D	0.000000	T	0.50548	0.1622	M	0.77820	2.39	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.997	T	0.50516	-0.8819	10	0.54805	T	0.06	.	19.3762	0.94510	0.0:1.0:0.0:0.0	.	299;299	Q9H2G2-2;Q9H2G2	.;SLK_HUMAN	T	299	ENSP00000336824:P299T;ENSP00000358770:P299T	ENSP00000336824:P299T	P	+	1	0	SLK	105751222	1.000000	0.71417	1.000000	0.80357	0.910000	0.53928	6.377000	0.73145	2.646000	0.89796	0.462000	0.41574	CCC		0.388	SLK-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050188.1	NM_014720		7	32	1	0	0.00307968	0.27861	0.00354163	7	32					A	105761232	C	A	105761232	3	1	165	1	0	0	0	0	1	0	0	0	14748	507	18	5	925	5	SLK	10	105761232	Missense_Mutation	SNP	C	TCGA-G9-6364-01A-21D-1786-08		105761232	29773515	15	7948											
KRTAP5-9	3846	broad.mit.edu	37	chr11	71259904	71259904	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctgtggctcctgtgggggCtccaagggaggctgtggttc	3	10	19	9	0	0	0	0	0	0	0	3	1	2	1	2	7	0	5	2	7	1	1			TCGA-G9-6364-01A-21D-1786-08	TCGA-G9-6364-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a3d716-cd83-4012-91ec-ff5e45784c98	a820bb95-2a8f-46cf-b111-46f108dc789a	g.chr11:71259904C>T	ENST00000528743.2	+	1	439	c.201C>T	c.(199-201)ggC>ggT	p.G67G		NM_005553.3	NP_005544.4	P26371	KRA59_HUMAN	keratin associated protein 5-9	67	8 X 4 AA repeats of C-C-X-P.				epidermis development (GO:0008544)	keratin filament (GO:0045095)		p.G67G(1)		kidney(1)|large_intestine(1)|lung(6)|prostate(3)	11						CCTGTGGGGGCTCCAAGGGAG	0.627																																						ENST00000528743.2																			1	Substitution - coding silent(1)	p.G67G(1)	prostate(1)	kidney(1)|large_intestine(1)|lung(6)|prostate(3)	11						c.(199-201)ggC>ggT		keratin associated protein 5-9							98	114	108					11																	71259904		2200	4293	6493	SO:0001819	synonymous_variant	3846				epidermis development	keratin filament		g.chr11:71259904C>T	AB126078	CCDS53677.1	11q13.4	2008-02-05				ENSG00000254997		"Keratin associated proteins"	23604	protein-coding gene	gene with protein product		148021		KRN1		15144888	Standard	NM_005553		Approved	KRTAP5.9, KRTAP5-1	uc001oqs.1	P26371		ENST00000528743.2:c.201C>T	11.37:g.71259904C>T							p.G67G	NM_005553.3	NP_005544.4	P26371	KRA59_HUMAN			1	439	+			67			8 X 4 AA repeats of C-C-X-P.		Q14564|Q3MIP8	Silent	SNP	ENST00000528743.2	37	c.201C>T	CCDS53677.1																																																																																				0.627	KRTAP5-9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393901.2			8	159	0	0	0	0.335167	0	8	159					T	71259904	C	T	71259904	2	4	165	1	0	0	0	0	0	0	0	1	8568	784	28	3		3	KRTAP5-9	11	71259904	Silent	SNP	C	TCGA-G9-6364-01A-21D-1786-08		71259904	63746612	16	7949											
APLP2	334	broad.mit.edu	37	chr11	129979414	129979414	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taaatatgcatgtgaacattCagactgggaaatgggaacct	15	10	10	6	0	1	2	1	1	0	1	1	4	1	4	1	2	3	1	1	2	6	3			TCGA-G9-6364-01A-21D-1786-08	TCGA-G9-6364-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a3d716-cd83-4012-91ec-ff5e45784c98	a820bb95-2a8f-46cf-b111-46f108dc789a	g.chr11:129979414C>A	ENST00000263574.5	+	2	268	c.196C>A	c.(196-198)Cag>Aag	p.Q66K	APLP2_ENST00000543137.1_5'UTR|APLP2_ENST00000338167.5_Missense_Mutation_p.Q66K|APLP2_ENST00000532456.1_3'UTR|APLP2_ENST00000539648.1_Intron|APLP2_ENST00000278756.7_Missense_Mutation_p.Q76K|APLP2_ENST00000528499.1_Missense_Mutation_p.Q66K|APLP2_ENST00000345598.5_Missense_Mutation_p.Q66K	NM_001642.2	NP_001633.1	Q06481	APLP2_HUMAN	amyloid beta (A4) precursor-like protein 2	66					cellular copper ion homeostasis (GO:0006878)|cholesterol metabolic process (GO:0008203)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|G-protein coupled receptor signaling pathway (GO:0007186)|locomotory behavior (GO:0007626)|mating behavior (GO:0007617)|midbrain development (GO:0030901)|neuromuscular process controlling balance (GO:0050885)|regulation of epidermal growth factor-activated receptor activity (GO:0007176)|regulation of protein binding (GO:0043393)|suckling behavior (GO:0001967)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|serine-type endopeptidase inhibitor activity (GO:0004867)|transition metal ion binding (GO:0046914)	p.Q66K(1)		NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(6)|ovary(4)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_hematologic(175;0.0429)	Breast(109;0.00586)|Lung NSC(97;0.00785)|all_lung(97;0.0154)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)		OV - Ovarian serous cystadenocarcinoma(99;0.0197)|Lung(977;0.24)		TGTGAACATTCAGACTGGGAA	0.458																																						ENST00000263574.5																			1	Substitution - Missense(1)	p.Q66K(1)	prostate(1)	NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(6)|ovary(4)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						c.(196-198)Cag>Aag		amyloid beta (A4) precursor-like protein 2							112	101	105					11																	129979414		2201	4297	6498	SO:0001583	missense	334				G-protein coupled receptor protein signaling pathway	integral to membrane|nucleus|plasma membrane	DNA binding|identical protein binding|serine-type endopeptidase inhibitor activity	g.chr11:129979414C>A	L19597	CCDS8486.1, CCDS44773.1, CCDS44774.1, CCDS44775.1, CCDS58196.1	11q24	2008-02-05			ENSG00000084234	ENSG00000084234			598	protein-coding gene	gene with protein product		104776		APPL2		10702673	Standard	NM_001642		Approved	APPH	uc021qsg.1	Q06481	OTTHUMG00000165767	ENST00000263574.5:c.196C>A	11.37:g.129979414C>A	ENSP00000263574:p.Gln66Lys					APLP2_ENST00000345598.5_Missense_Mutation_p.Q66K|APLP2_ENST00000338167.5_Missense_Mutation_p.Q66K|APLP2_ENST00000278756.7_Missense_Mutation_p.Q76K|APLP2_ENST00000532456.1_3'UTR|APLP2_ENST00000528499.1_Missense_Mutation_p.Q66K|APLP2_ENST00000543137.1_5'UTR|APLP2_ENST00000539648.1_Intron	p.Q66K	NM_001642.2	NP_001633.1	Q06481	APLP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.0197)|Lung(977;0.24)	2	268	+	all_hematologic(175;0.0429)	Breast(109;0.00586)|Lung NSC(97;0.00785)|all_lung(97;0.0154)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)	66					B3KXX9|H7BXI4|Q13861|Q14594|Q14662|Q71U10|Q7M4L3|Q9BT36	Missense_Mutation	SNP	ENST00000263574.5	37	c.196C>A	CCDS8486.1	.	.	.	.	.	.	.	.	.	.	C	35	5.530539	0.96446	.	.	ENSG00000084234	ENST00000530416;ENST00000533195;ENST00000533713;ENST00000528499;ENST00000263574;ENST00000345598;ENST00000338167;ENST00000278756	D;D;D;D;D	0.94330	-3.4;-1.8;-3.38;-1.93;-1.94	6.17	6.17	0.99709	Amyloidogenic glycoprotein, extracellular (1);Amyloidogenic glycoprotein, heparin-binding (3);	0.000000	0.85682	D	0.000000	D	0.97259	0.9104	M	0.86651	2.83	0.80722	D	1	D;P;D;P;P	0.60575	0.988;0.948;0.982;0.948;0.868	D;P;D;P;P	0.72625	0.978;0.886;0.968;0.886;0.762	D	0.97086	0.9787	10	0.72032	D	0.01	-30.4612	19.8676	0.96824	0.0:1.0:0.0:0.0	.	66;66;66;66;66	Q06481;Q06481-2;Q06481-5;Q06481-4;Q06481-3	APLP2_HUMAN;.;.;.;.	K	13;91;51;66;66;66;66;76	ENSP00000435914:Q66K;ENSP00000263574:Q66K;ENSP00000263575:Q66K;ENSP00000345444:Q66K;ENSP00000278756:Q76K	ENSP00000263574:Q66K	Q	+	1	0	APLP2	129484624	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.487000	0.81328	2.941000	0.99782	0.655000	0.94253	CAG		0.458	APLP2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386109.1	NM_001642		3	46	1	0	0.115264	0.115264	0.126242	3	46					A	129979414	C	A	129979414	3	1	165	1	0	0	0	0	1	0	0	0	779	827	29	5	202	5	APLP2	11	129979414	Missense_Mutation	SNP	C	TCGA-G9-6364-01A-21D-1786-08	58719510	129979414	5027102	17	7950											
BBS10	79738	broad.mit.edu	37	chr12	76740951	76740951	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atttagaataaactctgatcCagaagtggaaaaaagaggct	18	9	9	5	0	1	4	0	1	1	3	2	5	2	5	1	2	1	1	1	2	8	3			TCGA-G9-6364-01A-21D-1786-08	TCGA-G9-6364-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a3d716-cd83-4012-91ec-ff5e45784c98	a820bb95-2a8f-46cf-b111-46f108dc789a	g.chr12:76740951C>T	ENST00000393262.3	-	2	897	c.814G>A	c.(814-816)Gga>Aga	p.G272R		NM_024685.3	NP_078961.3	Q8TAM1	BBS10_HUMAN	Bardet-Biedl syndrome 10	272					cellular protein metabolic process (GO:0044267)|chaperone-mediated protein complex assembly (GO:0051131)|nonmotile primary cilium assembly (GO:0035058)|photoreceptor cell maintenance (GO:0045494)|regulation of protein complex assembly (GO:0043254)|response to stimulus (GO:0050896)|retina homeostasis (GO:0001895)|visual perception (GO:0007601)	cell projection (GO:0042995)	ATP binding (GO:0005524)|RNA polymerase II repressing transcription factor binding (GO:0001103)	p.G272R(1)		endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)	19						AACTCTGATCCAGAAGTGGAA	0.373									Bardet-Biedl syndrome																													ENST00000393262.3																			1	Substitution - Missense(1)	p.G272R(1)	prostate(1)	endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)	19						c.(814-816)Gga>Aga		Bardet-Biedl syndrome 10							60	53	56					12																	76740951		2203	4300	6503	SO:0001583	missense	79738	Bardet-Biedl syndrome	Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome	cellular protein metabolic process|nonmotile primary cilium assembly|photoreceptor cell maintenance|response to stimulus|retina homeostasis	cilium	ATP binding	g.chr12:76740951C>T	BC026355	CCDS9014.2	12q21.2	2014-06-17	2006-04-28	2006-04-28	ENSG00000179941	ENSG00000179941		"Heat Shock Proteins / Chaperonins"	26291	protein-coding gene	gene with protein product		610148	"chromosome 12 open reading frame 58"	C12orf58		16582908	Standard	NM_024685		Approved	FLJ23560	uc001syd.1	Q8TAM1	OTTHUMG00000147352	ENST00000393262.3:c.814G>A	12.37:g.76740951C>T	ENSP00000376946:p.Gly272Arg						p.G272R	NM_024685.3	NP_078961.3	Q8TAM1	BBS10_HUMAN			2	897	-			272					Q96CW2|Q9H5D2	Missense_Mutation	SNP	ENST00000393262.3	37	c.814G>A	CCDS9014.2	.	.	.	.	.	.	.	.	.	.	C	11.41	1.631643	0.29068	.	.	ENSG00000179941	ENST00000393262	T	0.68903	-0.36	5.13	4.22	0.49857	.	0.217724	0.38605	N	0.001637	T	0.65913	0.2737	M	0.67953	2.075	0.45554	D	0.998508	B	0.25390	0.125	B	0.28011	0.085	T	0.67515	-0.5651	10	0.59425	D	0.04	-5.011	13.5366	0.61650	0.0:0.9241:0.0:0.0759	.	272	Q8TAM1	BBS10_HUMAN	R	272	ENSP00000376946:G272R	ENSP00000376946:G272R	G	-	1	0	BBS10	75265082	0.054000	0.20591	0.741000	0.31004	0.526000	0.34562	0.833000	0.27504	1.497000	0.48584	0.650000	0.86243	GGA		0.373	BBS10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000303983.2	NM_024685		12	26	0	0	0	0.38729	0	12	26					T	76740951	C	T	76740951	3	4	165	1	0	0	0	0	1	0	0	0	1336	603	21	3	1361	3	BBS10	12	76740951	Missense_Mutation	SNP	C	TCGA-G9-6364-01A-21D-1786-08		76740951	57110944	18	7951											
XPO4	64328	broad.mit.edu	37	chr13	21436893	21436893	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ataggttaaaaggaatgttcGcagagactcgatgctacctt	13	11	10	7	2	0	1	0	0	0	1	2	4	0	2	1	2	2	4	1	2	5	5			TCGA-G9-6364-01A-21D-1786-08	TCGA-G9-6364-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a3d716-cd83-4012-91ec-ff5e45784c98	a820bb95-2a8f-46cf-b111-46f108dc789a	g.chr13:21436893G>T	ENST00000255305.6	-	3	351	c.280C>A	c.(280-282)Cga>Aga	p.R94R	XPO4_ENST00000490513.1_5'UTR|XPO4_ENST00000400602.2_Silent_p.R94R			Q9C0E2	XPO4_HUMAN	exportin 4	94					positive regulation of protein export from nucleus (GO:0046827)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.R67R(1)		breast(1)|endometrium(10)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	41		all_cancers(29;5.05e-24)|all_epithelial(30;5.56e-20)|all_lung(29;2.38e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)		all cancers(112;0.000521)|Epithelial(112;0.000892)|OV - Ovarian serous cystadenocarcinoma(117;0.0148)|Lung(94;0.0189)|LUSC - Lung squamous cell carcinoma(192;0.0548)		AGGAATGTTCGCAGAGACTCG	0.433																																						ENST00000400602.2																			1	Substitution - coding silent(1)	p.R67R(1)	prostate(1)	breast(1)|endometrium(10)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	41						c.(280-282)Cga>Aga		exportin 4							185	178	180					13																	21436893		1856	4097	5953	SO:0001819	synonymous_variant	64328				protein transport	cytoplasm|nucleus	protein binding	g.chr13:21436893G>T	AB051508	CCDS41872.1	13q11	2011-04-13			ENSG00000132953	ENSG00000132953		"Exportins"	17796	protein-coding gene	gene with protein product		611449				11214970, 10944119	Standard	NM_022459		Approved	FLJ13046, KIAA1721	uc001unq.4	Q9C0E2	OTTHUMG00000016528	ENST00000255305.6:c.280C>A	13.37:g.21436893G>T						XPO4_ENST00000255305.6_Silent_p.R94R|XPO4_ENST00000490513.1_5'UTR	p.R94R	NM_022459.4	NP_071904.4	Q9C0E2	XPO4_HUMAN		all cancers(112;0.000521)|Epithelial(112;0.000892)|OV - Ovarian serous cystadenocarcinoma(117;0.0148)|Lung(94;0.0189)|LUSC - Lung squamous cell carcinoma(192;0.0548)	3	315	-		all_cancers(29;5.05e-24)|all_epithelial(30;5.56e-20)|all_lung(29;2.38e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)	94					Q5VUZ5|Q8N3V6|Q9H934	Silent	SNP	ENST00000255305.6	37	c.280C>A	CCDS41872.1																																																																																				0.433	XPO4-001	KNOWN	non_canonical_conserved|non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000044096.1	NM_022459		9	257	1	0	2.17888e-05	0.335167	2.63759e-05	9	257					T	21436893	G	T	21436893	2	4	165	1	0	0	0	0	0	0	0	1	17443	1095	38	5		5	XPO4	13	21436893	Silent	SNP	G	TCGA-G9-6364-01A-21D-1786-08		21436893	93732985	19	7952											
RPS6KA5	9252	broad.mit.edu	37	chr14	91360831	91360831	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaaacaagcttcctcatgaTgtagctggcttccgtctcac	9	12	8	12	1	2	2	2	2	1	0	5	2	4	2	2	1	3	4	2	1	3	3			TCGA-G9-6364-01A-21D-1786-08	TCGA-G9-6364-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a3d716-cd83-4012-91ec-ff5e45784c98	a820bb95-2a8f-46cf-b111-46f108dc789a	g.chr14:91360831T>G	ENST00000261991.3	-	13	1743	c.1570A>C	c.(1570-1572)Atc>Ctc	p.I524L	RPS6KA5_ENST00000418736.2_Missense_Mutation_p.I524L|RPS6KA5_ENST00000536315.2_Missense_Mutation_p.I445L	NM_004755.2	NP_004746.2	O75582	KS6A5_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 5	524	Protein kinase 2. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|epidermal growth factor receptor signaling pathway (GO:0007173)|histone H2A-S1 phosphorylation (GO:0043990)|histone H3-S10 phosphorylation (GO:0043987)|histone H3-S28 phosphorylation (GO:0043988)|histone phosphorylation (GO:0016572)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-1-mediated signaling pathway (GO:0070498)|intracellular signal transduction (GO:0035556)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of cytokine production (GO:0001818)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of histone acetylation (GO:0035066)|positive regulation of histone phosphorylation (GO:0033129)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.I524L(2)		endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	24		all_cancers(154;0.0148)|Melanoma(154;0.099)|all_epithelial(191;0.146)		Epithelial(152;0.182)|BRCA - Breast invasive adenocarcinoma(234;0.201)		TTCCTCATGATGTAGCTGGCT	0.448																																						ENST00000261991.3																			2	Substitution - Missense(2)	p.I524L(2)	prostate(2)	endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	24						c.(1570-1572)Atc>Ctc		ribosomal protein S6 kinase, 90kDa, polypeptide 5							147	122	131					14																	91360831		2203	4300	6503	SO:0001583	missense	9252				axon guidance|epidermal growth factor receptor signaling pathway|histone phosphorylation|innate immune response|interleukin-1-mediated signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of transcription from RNA polymerase II promoter|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytoplasm|nucleoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity	g.chr14:91360831T>G	AF074393	CCDS9893.1, CCDS45149.1	14q31-q32.1	2011-04-05	2002-08-29			ENSG00000100784			10434	protein-coding gene	gene with protein product		603607	"ribosomal protein S6 kinase, 90kD, polypeptide 5"			9687510, 10702687	Standard	NM_004755		Approved	MSK1, RLPK	uc001xys.2	O75582		ENST00000261991.3:c.1570A>C	14.37:g.91360831T>G	ENSP00000261991:p.Ile524Leu					RPS6KA5_ENST00000536315.2_Missense_Mutation_p.I445L|RPS6KA5_ENST00000418736.2_Missense_Mutation_p.I524L	p.I524L	NM_004755.2	NP_004746.2	O75582	KS6A5_HUMAN		Epithelial(152;0.182)|BRCA - Breast invasive adenocarcinoma(234;0.201)	13	1743	-		all_cancers(154;0.0148)|Melanoma(154;0.099)|all_epithelial(191;0.146)	524			Protein kinase 2.		O95316|Q96AF7	Missense_Mutation	SNP	ENST00000261991.3	37	c.1570A>C	CCDS9893.1	.	.	.	.	.	.	.	.	.	.	T	15.04	2.714874	0.48622	.	.	ENSG00000100784	ENST00000261991;ENST00000536315;ENST00000418736	T;T;T	0.52983	0.64;0.64;0.64	5.66	5.66	0.87406	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.57125	0.2032	L	0.39633	1.23	0.80722	D	1	B;D	0.59357	0.001;0.985	B;P	0.60345	0.086;0.873	T	0.56426	-0.7981	10	0.45353	T	0.12	.	15.9027	0.79392	0.0:0.0:0.0:1.0	.	524;524	O75582-2;O75582	.;KS6A5_HUMAN	L	524;445;524	ENSP00000261991:I524L;ENSP00000442803:I445L;ENSP00000402787:I524L	ENSP00000261991:I524L	I	-	1	0	RPS6KA5	90430584	1.000000	0.71417	1.000000	0.80357	0.371000	0.29859	8.040000	0.89188	2.146000	0.66826	0.533000	0.62120	ATC		0.448	RPS6KA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411442.2	NM_004755		25	54	0	0	0	0.667858	0	25	54					G	91360831	T	G	91360831	3	3	165	1	0	0	0	0	1	0	0	0	13654	1464	51	5	864	5	RPS6KA5	14	91360831	Missense_Mutation	SNP	T	TCGA-G9-6364-01A-21D-1786-08		91360831	15988709	20	7953											
MORF4L1	10933	broad.mit.edu	37	chr15	79177371	79177371	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acatgaggatattgtagcccTttttcctgttcctgaaggag	9	14	10	8	0	0	2	0	2	0	0	2	4	2	4	3	2	1	2	3	2	3	6			TCGA-G9-6364-01A-21D-1786-08	TCGA-G9-6364-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a3d716-cd83-4012-91ec-ff5e45784c98	a820bb95-2a8f-46cf-b111-46f108dc789a	g.chr15:79177371T>C	ENST00000331268.5	+	4	422	c.218T>C	c.(217-219)cTt>cCt	p.L73P	MORF4L1_ENST00000558746.1_Intron|MORF4L1_ENST00000559345.1_Intron|MORF4L1_ENST00000379535.4_Intron|MORF4L1_ENST00000426013.2_Intron|MORF4L1_ENST00000558502.1_Intron|MORF4L1_ENST00000561171.1_Intron	NM_206839.2	NP_996670.1	Q9UBU8	MO4L1_HUMAN	mortality factor 4 like 1	73					cell proliferation (GO:0008283)|chromatin organization (GO:0006325)|double-strand break repair via homologous recombination (GO:0000724)|histone deacetylation (GO:0016575)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|regulation of growth (GO:0040008)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|Sin3 complex (GO:0016580)	chromatin binding (GO:0003682)|protein N-terminus binding (GO:0047485)	p.L73P(1)		breast(1)|large_intestine(3)|lung(4)|prostate(1)|urinary_tract(1)	10						ATTGTAGCCCTTTTTCCTGTT	0.443																																						ENST00000331268.5																			1	Substitution - Missense(1)	p.L73P(1)	prostate(1)	breast(1)|large_intestine(3)|lung(4)|prostate(1)|urinary_tract(1)	10						c.(217-219)cTt>cCt		mortality factor 4 like 1							129	116	120					15																	79177371		2196	4293	6489	SO:0001583	missense	10933				double-strand break repair via homologous recombination|histone deacetylation|histone H2A acetylation|histone H4 acetylation|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|Sin3 complex	protein N-terminus binding	g.chr15:79177371T>C	AF100615	CCDS10307.1, CCDS32304.1, CCDS58393.1	15q25.1	2009-07-13			ENSG00000185787	ENSG00000185787			16989	protein-coding gene	gene with protein product	"MORF-related gene on chromosome 15", "Esa1p-associated factor 3 homolog (S. cerevisiae)"	607303				8619474, 9110174	Standard	NM_006791		Approved	MRG15, MORFRG15, HsT17725, Eaf3, MEAF3	uc002bel.4	Q9UBU8	OTTHUMG00000143865	ENST00000331268.5:c.218T>C	15.37:g.79177371T>C	ENSP00000331310:p.Leu73Pro					MORF4L1_ENST00000379535.4_Intron|MORF4L1_ENST00000426013.2_Intron|MORF4L1_ENST00000561171.1_Intron|MORF4L1_ENST00000559345.1_Intron|MORF4L1_ENST00000558746.1_Intron|MORF4L1_ENST00000558502.1_Intron	p.L73P	NM_206839.2	NP_996670.1	Q9UBU8	MO4L1_HUMAN			4	422	+			73					B4DKN6|B7Z6R1|D3DW88|O95899|Q5QTS1|Q6NVX8|Q86YT7|Q9HBP6|Q9NSW5	Missense_Mutation	SNP	ENST00000331268.5	37	c.218T>C	CCDS10307.1	.	.	.	.	.	.	.	.	.	.	T	11.43	1.635762	0.29068	.	.	ENSG00000185787	ENST00000331268	T	0.31247	1.5	6.03	-0.384	0.12474	Chromo domain-like (1);	0.394014	0.19707	N	0.107905	T	0.11922	0.0290	N	0.08118	0	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.11916	-1.0568	10	0.30078	T	0.28	1.9655	4.4834	0.11778	0.1393:0.313:0.0:0.5477	.	73	Q9UBU8	MO4L1_HUMAN	P	73	ENSP00000331310:L73P	ENSP00000331310:L73P	L	+	2	0	MORF4L1	76964426	1.000000	0.71417	0.993000	0.49108	0.999000	0.98932	1.299000	0.33424	-0.310000	0.08766	0.533000	0.62120	CTT		0.443	MORF4L1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000290131.4	NM_006791		3	93	0	0	0	0.150653	0	3	93					C	79177371	T	C	79177371	3	2	165	1	0	0	0	0	1	0	0	0	9706	1609	56	4	232	4	MORF4L1	15	79177371	Missense_Mutation	SNP	T	TCGA-G9-6364-01A-21D-1786-08		79177371	23354021	21	7954											
AP3B2	8120	broad.mit.edu	37	chr15	83346500	83346500	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cgatgttagttgcacagcgtCcaatggcctggattgtggct	7	12	13	9	2	0	0	0	0	0	0	1	2	1	1	2	3	2	4	2	3	2	3			TCGA-G9-6364-01A-21D-1786-08	TCGA-G9-6364-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a3d716-cd83-4012-91ec-ff5e45784c98	a820bb95-2a8f-46cf-b111-46f108dc789a	g.chr15:83346500C>A	ENST00000261722.3	-	12	1508	c.1301G>T	c.(1300-1302)gGa>gTa	p.G434V	RP11-752G15.3_ENST00000560650.1_RNA|AP3B2_ENST00000535359.1_Missense_Mutation_p.G434V|AP3B2_ENST00000535348.1_Missense_Mutation_p.G402V	NM_004644.3	NP_004635.2	Q13367	AP3B2_HUMAN	adaptor-related protein complex 3, beta 2 subunit	434					anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|intracellular protein transport (GO:0006886)|post-Golgi vesicle-mediated transport (GO:0006892)	AP-3 adaptor complex (GO:0030123)|COPI-coated vesicle (GO:0030137)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	transporter activity (GO:0005215)	p.G433V(1)|p.G434V(1)		breast(4)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(2)	41			BRCA - Breast invasive adenocarcinoma(143;0.229)			TGCACAGCGTCCAATGGCCTG	0.537																																						ENST00000261722.3																			2	Substitution - Missense(2)	p.G433V(1)|p.G434V(1)	prostate(2)	breast(4)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(2)	41						c.(1300-1302)gGa>gTa		adaptor-related protein complex 3, beta 2 subunit							46	50	49					15																	83346500		2113	4232	6345	SO:0001583	missense	8120				endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport	clathrin coated vesicle membrane|COPI-coated vesicle|membrane coat	binding|protein transporter activity	g.chr15:83346500C>A	U37673	CCDS45331.1, CCDS61736.1, CCDS61737.1	15q	2008-07-07			ENSG00000103723	ENSG00000103723			567	protein-coding gene	gene with protein product		602166				7671305, 1851215	Standard	NM_004644		Approved	NAPTB	uc010uoh.2	Q13367	OTTHUMG00000168009	ENST00000261722.3:c.1301G>T	15.37:g.83346500C>A	ENSP00000261722:p.Gly434Val					AP3B2_ENST00000535348.1_Missense_Mutation_p.G402V|RP11-752G15.3_ENST00000560650.1_RNA|AP3B2_ENST00000535359.1_Missense_Mutation_p.G434V	p.G434V	NM_004644.3	NP_004635.2	Q13367	AP3B2_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.229)		12	1508	-			434					A4Z4T7|B7ZKR7|B7ZKS0|O14808|Q52LY8	Missense_Mutation	SNP	ENST00000261722.3	37	c.1301G>T	CCDS45331.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.415553	0.83449	.	.	ENSG00000103723	ENST00000261722;ENST00000535348;ENST00000535359	T;T;T	0.15952	2.38;2.38;2.38	4.98	4.07	0.47477	Clathrin/coatomer adaptor, adaptin-like, N-terminal (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.53286	0.1787	H	0.95260	3.645	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.993;0.999;0.999	T	0.68595	-0.5367	10	0.87932	D	0	-11.4066	13.5112	0.61513	0.0:0.9249:0.0:0.0751	.	402;434;434	B7ZKR7;B7ZKS0;Q13367	.;.;AP3B2_HUMAN	V	434;402;434	ENSP00000261722:G434V;ENSP00000438721:G402V;ENSP00000440984:G434V	ENSP00000261722:G434V	G	-	2	0	AP3B2	81143555	1.000000	0.71417	0.963000	0.40424	0.997000	0.91878	7.627000	0.83176	1.339000	0.45563	0.655000	0.94253	GGA		0.537	AP3B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397463.1			4	14	1	0	0.00024832	0.150653	0.00029289	4	14					A	83346500	C	A	83346500	3	1	165	1	0	0	0	0	1	0	0	0	745	855	30	5	2007	5	AP3B2	15	83346500	Missense_Mutation	SNP	C	TCGA-G9-6364-01A-21D-1786-08	4169129	83346500	19184892	22	7955											
IQGAP1	8826	broad.mit.edu	37	chr15	91027480	91027480	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tccaaactgcttgtgatgtcCcagagcttcaggataaattt	11	13	8	9	0	1	2	1	1	0	1	3	3	3	3	2	1	3	2	2	1	3	4			TCGA-G9-6364-01A-21D-1786-08	TCGA-G9-6364-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a3d716-cd83-4012-91ec-ff5e45784c98	a820bb95-2a8f-46cf-b111-46f108dc789a	g.chr15:91027480C>G	ENST00000268182.5	+	30	3941	c.3817C>G	c.(3817-3819)Cca>Gca	p.P1273A	IQGAP1_ENST00000560738.1_Missense_Mutation_p.P701A	NM_003870.3	NP_003861.1	P46940	IQGA1_HUMAN	IQ motif containing GTPase activating protein 1	1273	C1.				cellular response to calcium ion (GO:0071277)|cellular response to epidermal growth factor stimulus (GO:0071364)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|glomerular visceral epithelial cell development (GO:0072015)|negative regulation of catalytic activity (GO:0043086)|negative regulation of dephosphorylation (GO:0035305)|neuron projection extension (GO:1990138)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|regulation of cytokine production (GO:0001817)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	actin filament (GO:0005884)|axon (GO:0030424)|cell junction (GO:0030054)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|extracellular vesicular exosome (GO:0070062)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|lateral plasma membrane (GO:0016328)|microtubule (GO:0005874)|midbody (GO:0030496)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|slit diaphragm (GO:0036057)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|GTPase activator activity (GO:0005096)|GTPase inhibitor activity (GO:0005095)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|protein serine/threonine kinase activator activity (GO:0043539)|Ras GTPase activator activity (GO:0005099)	p.P1273A(1)		breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	Melanoma(11;0.00551)|Lung NSC(78;0.0237)|all_lung(78;0.0488)		BRCA - Breast invasive adenocarcinoma(143;0.0745)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)			TTGTGATGTCCCAGAGCTTCA	0.423																																						ENST00000268182.5																			1	Substitution - Missense(1)	p.P1273A(1)	prostate(1)	breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59						c.(3817-3819)Cca>Gca		IQ motif containing GTPase activating protein 1							141	135	137					15																	91027480		2198	4298	6496	SO:0001583	missense	8826				energy reserve metabolic process|regulation of insulin secretion|small GTPase mediated signal transduction	actin filament|cytoplasm|midbody|nucleus|plasma membrane	calmodulin binding|GTPase inhibitor activity|protein phosphatase binding|Ras GTPase activator activity	g.chr15:91027480C>G	D29640	CCDS10362.1	15q26.1	2008-07-18			ENSG00000140575	ENSG00000140575			6110	protein-coding gene	gene with protein product	"RasGAP-like with IQ motifs"	603379				8051149, 8670801	Standard	XM_005254984		Approved	p195, KIAA0051, SAR1, HUMORFA01	uc002bpl.1	P46940	OTTHUMG00000149832	ENST00000268182.5:c.3817C>G	15.37:g.91027480C>G	ENSP00000268182:p.Pro1273Ala					IQGAP1_ENST00000560738.1_Missense_Mutation_p.P701A	p.P1273A	NM_003870.3	NP_003861.1	P46940	IQGA1_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0745)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)		30	3941	+	Melanoma(11;0.00551)|Lung NSC(78;0.0237)|all_lung(78;0.0488)		1273			C1.		A7MBM3	Missense_Mutation	SNP	ENST00000268182.5	37	c.3817C>G	CCDS10362.1	.	.	.	.	.	.	.	.	.	.	C	18.58	3.654187	0.67472	.	.	ENSG00000140575	ENST00000268182	D	0.83419	-1.72	5.55	5.55	0.83447	Rho GTPase activation protein (1);Ras GTPase-activating protein (1);	0.118031	0.64402	D	0.000018	T	0.80199	0.4579	L	0.60957	1.885	0.80722	D	1	B	0.33883	0.43	B	0.26310	0.068	T	0.78593	-0.2144	10	0.38643	T	0.18	-12.8494	18.858	0.92260	0.0:1.0:0.0:0.0	.	1273	P46940	IQGA1_HUMAN	A	1273	ENSP00000268182:P1273A	ENSP00000268182:P1273A	P	+	1	0	IQGAP1	88828484	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.626000	0.83164	2.770000	0.95276	0.650000	0.86243	CCA		0.423	IQGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313493.1	NM_003870		33	121	0	0	0	0.788014	0	33	121					G	91027480	C	G	91027480	3	3	165	1	0	0	0	0	1	0	0	0	7814	623	22	5	3935	5	IQGAP1	15	91027480	Missense_Mutation	SNP	C	TCGA-G9-6364-01A-21D-1786-08	7680980	91027480	11503912	23	7956											
CD68	968	broad.mit.edu	37	chr17	7483262	7483263	+	Frame_Shift_Del	DEL	CA	CA	-																															agagccacaaaaccaccactCacaggacaaccaccacaggc																								rs143998725		TCGA-G9-6364-01A-21D-1786-08	TCGA-G9-6364-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a3d716-cd83-4012-91ec-ff5e45784c98	a820bb95-2a8f-46cf-b111-46f108dc789a	g.chr17:7483262_7483263delCA	ENST00000250092.6	+	2	395_396	c.184_185delCA	c.(184-186)cacfs	p.H62fs	AC113189.5_ENST00000573187.1_RNA|CD68_ENST00000380498.6_Frame_Shift_Del_p.H35fs|SNORD10_ENST00000459579.1_RNA|SNORA67_ENST00000384423.1_RNA|AC113189.5_ENST00000572046.1_RNA|AC113189.5_ENST00000415124.1_RNA|AC113189.5_ENST00000417897.1_RNA|SENP3-EIF4A1_ENST00000579777.1_RNA	NM_001251.2	NP_001242.2	P34810	CD68_HUMAN	CD68 molecule	62	Mucin-like.				cellular response to organic substance (GO:0071310)	endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|membrane (GO:0016020)|plasma membrane (GO:0005886)				endometrium(1)|lung(1)|skin(1)	3						Aaccaccactcacaggacaacc	0.564																																						ENST00000250092.6																			0				endometrium(1)|lung(1)|skin(1)	3						c.(184-186)cfs		CD68 molecule																																				SO:0001589	frameshift_variant	968					endosome membrane|integral to membrane|lysosomal membrane|membrane fraction|plasma membrane		g.chr17:7483262_7483263delCA	S57235	CCDS11114.1, CCDS58512.1	17p13	2011-11-24	2006-03-28		ENSG00000129226	ENSG00000129226		"CD molecules"	1693	protein-coding gene	gene with protein product	"scavenger receptor class D, member 1", "CD68 antigen", "macrophage antigen CD68"	153634	"CD68 antigen"			9790779	Standard	NM_001251		Approved	SCARD1, macrosialin, GP110, DKFZp686M18236, LAMP4	uc002ghv.3	P34810	OTTHUMG00000108146	ENST00000250092.6:c.184_185delCA	17.37:g.7483264_7483265delCA	ENSP00000250092:p.His62fs					CD68_ENST00000380498.6_Frame_Shift_Del_p.H35fs	p.H62fs	NM_001251.2	NP_001242.2	P34810	CD68_HUMAN			2	395_396	+			62			Mucin-like.		B4DVT4|Q53HR6|Q53XI3|Q96BI7	Frame_Shift_Del	DEL	ENST00000250092.6	37	c.184_185delCA	CCDS11114.1																																																																																				0.564	CD68-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226949.3	NM_001251		14	24						14	24	---	---	---	---	-	7483263	CA	-	7483262	7	5	165	1	0	1	0	1	0	0	0	0	3030	826	29	0	190	0	CD68	17	7483262	Frame_Shift_Del	DEL	CA	TCGA-G9-6364-01A-21D-1786-08		7483262	73711948	24	7957											
CHAF1A	10036	broad.mit.edu	37	chr19	4442949	4442949	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	agccccgtgtggagccgcttCcggagctgggggtggtgtgg	3	8	20	10	3	0	0	0	0	0	0	1	2	1	2	4	6	3	2	4	6	0	1			TCGA-G9-6364-01A-21D-1786-08	TCGA-G9-6364-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a3d716-cd83-4012-91ec-ff5e45784c98	a820bb95-2a8f-46cf-b111-46f108dc789a	g.chr19:4442949C>T	ENST00000301280.5	+	15	2899	c.2798C>T	c.(2797-2799)tCc>tTc	p.S933F		NM_005483.2	NP_005474	Q13111	CAF1A_HUMAN	chromatin assembly factor 1, subunit A (p150)	933	Binds to p60.				cell cycle (GO:0007049)|chromatin assembly (GO:0031497)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication-dependent nucleosome assembly (GO:0006335)|protein complex assembly (GO:0006461)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	CAF-1 complex (GO:0033186)|nuclear chromatin (GO:0000790)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|identical protein binding (GO:0042802)|unfolded protein binding (GO:0051082)	p.S933F(1)		breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	27		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18)		GGAGCCGCTTCCGGAGCTGGG	0.672								Chromatin Structure																														ENST00000301280.5																			1	Substitution - Missense(1)	p.S933F(1)	prostate(1)	breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	27						c.(2797-2799)tCc>tTc	Chromatin Structure	chromatin assembly factor 1, subunit A (p150)							22	24	23					19																	4442949		2201	4298	6499	SO:0001583	missense	10036				cell cycle|DNA repair|DNA replication|DNA replication-dependent nucleosome assembly|protein complex assembly|regulation of transcription, DNA-dependent|transcription, DNA-dependent	CAF-1 complex|WINAC complex	chromatin binding|chromo shadow domain binding|unfolded protein binding	g.chr19:4442949C>T	U20979	CCDS32875.1	19p13.3	2008-07-16				ENSG00000167670			1910	protein-coding gene	gene with protein product	"chromatin assembly factor I (150 kDa)"	601246				7600578	Standard	NM_005483		Approved	CAF1P150, CAF1B, CAF-1, CAF1, P150, MGC71229	uc002mal.3	Q13111		ENST00000301280.5:c.2798C>T	19.37:g.4442949C>T	ENSP00000301280:p.Ser933Phe						p.S933F	NM_005483.2	NP_005474.2	Q13111	CAF1A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18)	15	2899	+		Hepatocellular(1079;0.137)	933			Binds to p60.		Q6NXG5|Q7Z7K3|Q9UJY8	Missense_Mutation	SNP	ENST00000301280.5	37	c.2798C>T	CCDS32875.1	.	.	.	.	.	.	.	.	.	.	C	15.17	2.753857	0.49362	.	.	ENSG00000167670	ENST00000301280	T	0.28666	1.6	3.68	3.68	0.42216	.	.	.	.	.	T	0.30355	0.0762	L	0.57536	1.79	0.09310	N	1	P	0.44578	0.838	B	0.38562	0.276	T	0.22521	-1.0214	9	0.87932	D	0	-1.2356	11.2517	0.49031	0.0:1.0:0.0:0.0	.	933	Q13111	CAF1A_HUMAN	F	933	ENSP00000301280:S933F	ENSP00000301280:S933F	S	+	2	0	CHAF1A	4393949	0.012000	0.17670	0.002000	0.10522	0.021000	0.10359	3.308000	0.51896	1.769000	0.52152	0.313000	0.20887	TCC		0.672	CHAF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458310.2	NM_005483		5	18	0	0	0	0.27861	0	5	18					T	4442949	C	T	4442949	3	4	165	1	0	0	0	0	1	0	0	0	3311	855	30	3	2856	3	CHAF1A	19	4442949	Missense_Mutation	SNP	C	TCGA-G9-6364-01A-21D-1786-08		4442949	54686034	25	7958											
C20orf194	25943	broad.mit.edu	37	chr20	3236652	3236652	+	Splice_Site	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtctgggctctggaaaccacCtgcttagctgactgccgcag	7	9	12	13	1	2	1	0	1	2	0	2	2	2	2	3	2	4	4	3	2	2	1			TCGA-G9-6364-01A-21D-1786-08	TCGA-G9-6364-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a3d716-cd83-4012-91ec-ff5e45784c98	a820bb95-2a8f-46cf-b111-46f108dc789a	g.chr20:3236652C>G	ENST00000252032.9	-	34	3328	c.3261G>C	c.(3259-3261)caG>caC	p.Q1087H	C20orf194_ENST00000453730.2_3'UTR	NM_001009984.2	NP_001009984.1	Q5TEA3	CT194_HUMAN	chromosome 20 open reading frame 194	1087								p.Q1087H(1)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(15)|prostate(2)|skin(1)	39						TGGAAACCACCTGCTTAGCTG	0.597																																						ENST00000252032.9																			1	Substitution - Missense(1)	p.Q1087H(1)	prostate(1)	NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(15)|prostate(2)|skin(1)	39						c.e34+1		chromosome 20 open reading frame 194							44	46	45					20																	3236652		2080	4213	6293	SO:0001630	splice_region_variant	25943							g.chr20:3236652C>G	AL110249	CCDS42851.1	20p13	2012-10-30			ENSG00000088854	ENSG00000088854			17721	protein-coding gene	gene with protein product		614146					Standard	NM_001009984		Approved	DKFZp434N061	uc002wii.3	Q5TEA3	OTTHUMG00000031742	ENST00000252032.9:c.3261+1G>C	20.37:g.3236652C>G						C20orf194_ENST00000453730.2_3'UTR	p.Q1087_splice	NM_001009984.2	NP_001009984.1	Q5TEA3	CT194_HUMAN			34	3328	-			1087					Q66K86|Q6P2R9|Q9UFX9	Splice_Site	SNP	ENST00000252032.9	37	c.3261_splice	CCDS42851.1	.	.	.	.	.	.	.	.	.	.	C	24.7	4.556738	0.86231	.	.	ENSG00000088854	ENST00000252032	T	0.23348	1.91	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	T	0.51924	0.1703	M	0.66939	2.045	0.80722	D	1	D;D	0.76494	0.999;0.998	D;D	0.85130	0.997;0.994	T	0.42582	-0.9443	9	.	.	.	.	19.6747	0.95926	0.0:1.0:0.0:0.0	.	826;1087	Q0IIP3;Q5TEA3	.;CT194_HUMAN	H	1087	ENSP00000252032:Q1087H	.	Q	-	3	2	C20orf194	3184652	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	6.171000	0.71926	2.654000	0.90174	0.643000	0.83706	CAG		0.597	C20orf194-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077734.1	NM_001009984	Missense_Mutation	8	27	0	0	0	0.27861	0	8	27					G	3236652	C	G	3236652	5	3	165	1	0	0	0	0	0	0	1	0	2099	695	24	5	288	5	C20orf194	20	3236652	Splice_Site	SNP	C	TCGA-G9-6364-01A-21D-1786-08		3236652	59788868	26	7959											
PTPRT	11122	broad.mit.edu	37	chr20	40735499	40735499	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agatgtccaccaccccttcaTtctcggccatgtcaagcatg	9	10	7	15	1	3	1	2	0	1	1	5	1	4	1	5	1	1	1	5	1	1	2			TCGA-G9-6364-01A-21D-1786-08	TCGA-G9-6364-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a3d716-cd83-4012-91ec-ff5e45784c98	a820bb95-2a8f-46cf-b111-46f108dc789a	g.chr20:40735499T>G	ENST00000373187.1	-	24	3316	c.3317A>C	c.(3316-3318)aAt>aCt	p.N1106T	PTPRT_ENST00000373190.1_Missense_Mutation_p.N1105T|PTPRT_ENST00000373198.4_Missense_Mutation_p.N1125T|PTPRT_ENST00000373193.3_Missense_Mutation_p.N1109T|PTPRT_ENST00000356100.2_Missense_Mutation_p.N1115T|PTPRT_ENST00000373201.1_Missense_Mutation_p.N1096T|PTPRT_ENST00000373184.1_Missense_Mutation_p.N1116T			O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	1106	Tyrosine-protein phosphatase 1. {ECO:0000255|PROSITE-ProRule:PRU00160}.		N -> I (in a colorectal cancer; reduced phosphatase activity). {ECO:0000269|PubMed:15155950}.		cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|delta-catenin binding (GO:0070097)|gamma-catenin binding (GO:0045295)|protein tyrosine phosphatase activity (GO:0004725)	p.N1128T(1)		NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				CACCCCTTCATTCTCGGCCAT	0.562																																						ENST00000373198.3																			1	Substitution - Missense(1)	p.N1128T(1)	prostate(1)	NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176						c.(3382-3384)aAt>aCt		protein tyrosine phosphatase, receptor type, T							85	95	91					20																	40735499		2109	4247	6356	SO:0001583	missense	11122				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity	g.chr20:40735499T>G	AF043644	CCDS42874.1, CCDS68127.1	20q12-q13	2013-02-11			ENSG00000196090	ENSG00000196090		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	9682	protein-coding gene	gene with protein product		608712				9486824, 9602027	Standard	NM_133170		Approved	RPTPrho, KIAA0283	uc010ggj.3	O14522	OTTHUMG00000033040	ENST00000373187.1:c.3317A>C	20.37:g.40735499T>G	ENSP00000362283:p.Asn1106Thr					PTPRT_ENST00000373187.1_Missense_Mutation_p.N1106T|PTPRT_ENST00000356100.2_Missense_Mutation_p.N1115T|PTPRT_ENST00000373201.1_Missense_Mutation_p.N1096T|PTPRT_ENST00000373184.1_Missense_Mutation_p.N1116T|PTPRT_ENST00000373190.1_Missense_Mutation_p.N1105T|PTPRT_ENST00000373193.3_Missense_Mutation_p.N1109T	p.N1128T	NM_133170.3	NP_573400.3	O14522	PTPRT_HUMAN			25	3618	-		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)	1106			Tyrosine-protein phosphatase 1.		A8E4R6|O43655|O75664|Q5W0X9|Q5W0Y1|Q9BR24|Q9BR28|Q9H0Y8|Q9NTL1|Q9NU72|Q9UBD2|Q9UJL7	Missense_Mutation	SNP	ENST00000373187.1	37	c.3383A>C	CCDS42874.1	.	.	.	.	.	.	.	.	.	.	T	12.64	1.997165	0.35226	.	.	ENSG00000196090	ENST00000373190;ENST00000373187;ENST00000373193;ENST00000356100;ENST00000373198;ENST00000373184;ENST00000373201	T;T;T;T;T;T;T	0.28069	1.63;1.63;1.63;1.63;1.63;1.63;1.63	5.41	5.41	0.78517	Protein-tyrosine phosphatase, receptor/non-receptor type (3);Protein-tyrosine/Dual-specificity phosphatase (1);	0.046866	0.85682	D	0.000000	T	0.20088	0.0483	N	0.12746	0.255	0.58432	D	0.999999	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.002	T	0.03524	-1.1028	10	0.36615	T	0.2	.	15.7427	0.77914	0.0:0.0:0.0:1.0	.	1128;1106	O14522-1;O14522	.;PTPRT_HUMAN	T	1105;1106;1109;1115;1128;1116;1096	ENSP00000362286:N1105T;ENSP00000362283:N1106T;ENSP00000362289:N1109T;ENSP00000348408:N1115T;ENSP00000362294:N1128T;ENSP00000362280:N1116T;ENSP00000362297:N1096T	ENSP00000348408:N1115T	N	-	2	0	PTPRT	40168913	0.923000	0.31300	0.998000	0.56505	0.954000	0.61252	1.712000	0.37940	2.178000	0.69098	0.482000	0.46254	AAT		0.562	PTPRT-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000080315.1			4	103	0	0	0	0.184627	0	4	103					G	40735499	T	G	40735499	3	3	165	1	0	0	0	0	1	0	0	0	12812	1493	52	5	1040	5	PTPRT	20	40735499	Missense_Mutation	SNP	T	TCGA-G9-6364-01A-21D-1786-08	37498847	40735499	22290021	27	7960											
LRP8	7804	broad.mit.edu	37	chr1	53728131	53728131	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggctcacccagggtgattccGttgggccattcaatattgtc	7	12	11	11	1	2	1	2	1	0	0	4	1	3	1	3	3	0	2	3	3	2	5			TCGA-G9-6365-01A-11D-1786-08	TCGA-G9-6365-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	769e2ac9-a121-4b2a-a0fd-5f755b579811	bab99ce8-a7bc-4637-9322-032ea79b8c23	g.chr1:53728131G>A	ENST00000306052.6	-	11	1862	c.1761C>T	c.(1759-1761)aaC>aaT	p.N587N	LRP8_ENST00000354412.3_Silent_p.N458N|LRP8_ENST00000465675.1_Silent_p.N140N|LRP8_ENST00000460214.1_5'UTR|LRP8_ENST00000371454.2_Silent_p.N587N|LRP8_ENST00000347547.2_Silent_p.N417N	NM_004631.4	NP_004622.2	Q14114	LRP8_HUMAN	low density lipoprotein receptor-related protein 8, apolipoprotein e receptor	587					ammon gyrus development (GO:0021541)|blood coagulation (GO:0007596)|cellular response to cholesterol (GO:0071397)|cellular response to growth factor stimulus (GO:0071363)|cytokine-mediated signaling pathway (GO:0019221)|endocytosis (GO:0006897)|layer formation in cerebral cortex (GO:0021819)|lipid metabolic process (GO:0006629)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|phototransduction, visible light (GO:0007603)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendrite development (GO:1900006)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein tyrosine kinase activity (GO:0061098)|proteolysis (GO:0006508)|receptor-mediated endocytosis (GO:0006898)|reelin-mediated signaling pathway (GO:0038026)|regulation of synaptic transmission (GO:0050804)|response to drug (GO:0042493)|retinoid metabolic process (GO:0001523)|signal transduction (GO:0007165)	caveola (GO:0005901)|dendrite (GO:0030425)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|microtubule associated complex (GO:0005875)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|receptor complex (GO:0043235)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|high-density lipoprotein particle binding (GO:0008035)|reelin receptor activity (GO:0038025)|transmembrane signaling receptor activity (GO:0004888)|very-low-density lipoprotein particle receptor activity (GO:0030229)	p.N587N(1)		endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(1)	21						GGGTGATTCCGTTGGGCCATT	0.537																																						ENST00000306052.6																			1	Substitution - coding silent(1)	p.N587N(1)	prostate(1)	endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(1)	21						c.(1759-1761)aaC>aaT		low density lipoprotein receptor-related protein 8, apolipoprotein e receptor							180	174	176					1																	53728131		2203	4300	6503	SO:0001819	synonymous_variant	7804				cytokine-mediated signaling pathway|endocytosis|lipid metabolic process|platelet activation|proteolysis	caveola	calcium ion binding|very-low-density lipoprotein particle receptor activity	g.chr1:53728131G>A	D50678	CCDS578.1, CCDS579.1, CCDS580.1, CCDS30720.1	1p32.3	2013-05-29			ENSG00000157193	ENSG00000157193		"Low density lipoprotein receptors"	6700	protein-coding gene	gene with protein product		602600				8626535, 9079678	Standard	NM_004631		Approved	APOER2, MCI1, LRP-8, HSZ75190	uc001cvi.2	Q14114	OTTHUMG00000008924	ENST00000306052.6:c.1761C>T	1.37:g.53728131G>A						LRP8_ENST00000465675.1_Silent_p.N140N|LRP8_ENST00000371454.2_Silent_p.N587N|LRP8_ENST00000354412.3_Silent_p.N458N|LRP8_ENST00000460214.1_5'UTR|LRP8_ENST00000347547.2_Silent_p.N417N	p.N587N	NM_004631.4	NP_004622.2	Q14114	LRP8_HUMAN			11	1862	-			587					B1AMT6|B1AMT7|B1AMT8|O14968|Q86V27|Q99876|Q9BR78	Silent	SNP	ENST00000306052.6	37	c.1761C>T	CCDS578.1																																																																																				0.537	LRP8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000024699.1	NM_004631		5	206	0	0	0	0.001168	0	5	206					A	53728131	G	A	53728131	2	1	166	1	0	0	0	0	0	0	0	1	8963	1136	40	1		1	LRP8	1	53728131	Silent	SNP	G	TCGA-G9-6365-01A-11D-1786-08		53728131	195522490	1	7961											
PRKAA2	5563	broad.mit.edu	37	chr1	57173364	57173364	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttgaaatgtgtgccagtcTgattactactttagcccgtt	8	17	8	8	1	1	2	0	2	1	0	1	2	1	2	2	0	4	1	2	0	4	7			TCGA-G9-6365-01A-11D-1786-08	TCGA-G9-6365-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	769e2ac9-a121-4b2a-a0fd-5f755b579811	bab99ce8-a7bc-4637-9322-032ea79b8c23	g.chr1:57173364T>A	ENST00000371244.4	+	9	1703	c.1637T>A	c.(1636-1638)cTg>cAg	p.L546Q		NM_006252.3	NP_006243.2	P54646	AAPK2_HUMAN	protein kinase, AMP-activated, alpha 2 catalytic subunit	546					autophagy (GO:0006914)|carnitine shuttle (GO:0006853)|cell cycle arrest (GO:0007050)|cellular lipid metabolic process (GO:0044255)|cellular response to glucose starvation (GO:0042149)|cellular response to nutrient levels (GO:0031669)|cholesterol biosynthetic process (GO:0006695)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|fatty acid homeostasis (GO:0055089)|glucose homeostasis (GO:0042593)|insulin receptor signaling pathway (GO:0008286)|lipid biosynthetic process (GO:0008610)|membrane organization (GO:0061024)|negative regulation of apoptotic process (GO:0043066)|negative regulation of TOR signaling (GO:0032007)|positive regulation of autophagy (GO:0010508)|positive regulation of glycolytic process (GO:0045821)|protein phosphorylation (GO:0006468)|regulation of circadian rhythm (GO:0042752)|regulation of energy homeostasis (GO:2000505)|regulation of fatty acid biosynthetic process (GO:0042304)|regulation of transcription, DNA-templated (GO:0006355)|response to stress (GO:0006950)|rhythmic process (GO:0048511)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	[acetyl-CoA carboxylase] kinase activity (GO:0050405)|[hydroxymethylglutaryl-CoA reductase (NADPH)] kinase activity (GO:0047322)|AMP-activated protein kinase activity (GO:0004679)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|histone serine kinase activity (GO:0035174)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)	p.L546Q(3)		breast(6)|endometrium(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|stomach(1)	23					Acetylsalicylic acid(DB00945)	TGTGCCAGTCTGATTACTACT	0.388																																						ENST00000371244.4																			3	Substitution - Missense(3)	p.L546Q(3)	prostate(3)	breast(6)|endometrium(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|stomach(1)	23						c.(1636-1638)cTg>cAg		protein kinase, AMP-activated, alpha 2 catalytic subunit							117	110	112					1																	57173364		2203	4300	6503	SO:0001583	missense	5563				carnitine shuttle|cell cycle arrest|cholesterol biosynthetic process|energy reserve metabolic process|fatty acid biosynthetic process|insulin receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation	cytosol|nucleoplasm	ATP binding|metal ion binding	g.chr1:57173364T>A	BC069823	CCDS605.1	1p31	2011-08-25			ENSG00000162409	ENSG00000162409			9377	protein-coding gene	gene with protein product		600497		PRKAA		7959015	Standard	NM_006252		Approved	AMPK, AMPKa2	uc001cyk.4	P54646	OTTHUMG00000008282	ENST00000371244.4:c.1637T>A	1.37:g.57173364T>A	ENSP00000360290:p.Leu546Gln						p.L546Q	NM_006252.3	NP_006243.2	P54646	AAPK2_HUMAN			9	1703	+			546					Q9H1E8|Q9UD43	Missense_Mutation	SNP	ENST00000371244.4	37	c.1637T>A	CCDS605.1	.	.	.	.	.	.	.	.	.	.	T	26.8	4.776978	0.90195	.	.	ENSG00000162409	ENST00000371244	T	0.79845	-1.31	5.99	5.99	0.97316	.	0.000000	0.64402	D	0.000001	D	0.88537	0.6463	M	0.61703	1.905	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.89438	0.3721	10	0.87932	D	0	-13.8105	16.4943	0.84223	0.0:0.0:0.0:1.0	.	546	P54646	AAPK2_HUMAN	Q	546	ENSP00000360290:L546Q	ENSP00000360290:L546Q	L	+	2	0	PRKAA2	56945952	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.698000	0.84413	2.291000	0.77112	0.533000	0.62120	CTG		0.388	PRKAA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022753.2	NM_006252		4	142	0	0	0	0.000602	0	4	142					A	57173364	T	A	57173364	3	1	166	1	0	0	0	0	1	0	0	0	12494	1580	55	5	1671	5	PRKAA2	1	57173364	Missense_Mutation	SNP	T	TCGA-G9-6365-01A-11D-1786-08	3445233	57173364	192077257	2	7962											
SPTA1	6708	broad.mit.edu	37	chr1	158637764	158637764	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcatctcttggccagttttcTgtatgttttccagctgggtc	4	18	9	10	0	3	0	1	0	2	0	6	0	4	0	2	2	1	4	2	2	1	6			TCGA-G9-6365-01A-11D-1786-08	TCGA-G9-6365-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	769e2ac9-a121-4b2a-a0fd-5f755b579811	bab99ce8-a7bc-4637-9322-032ea79b8c23	g.chr1:158637764T>C	ENST00000368147.4	-	15	2102	c.1922A>G	c.(1921-1923)cAg>cGg	p.Q641R		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	641					actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)	p.Q641R(1)		NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					GCCAGTTTTCTGTATGTTTTC	0.468																																						ENST00000368148.3																			1	Substitution - Missense(1)	p.Q641R(1)	prostate(1)	NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307						c.(1921-1923)cAg>cGg		spectrin, alpha, erythrocytic 1 (elliptocytosis 2)							172	166	168					1																	158637764		1863	4099	5962	SO:0001583	missense	6708				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	g.chr1:158637764T>C	M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"EF-hand domain containing"	11272	protein-coding gene	gene with protein product	"elliptocytosis 2"	182860	"spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.1922A>G	1.37:g.158637764T>C	ENSP00000357129:p.Gln641Arg					SPTA1_ENST00000368147.3_Missense_Mutation_p.Q641R	p.Q641R	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN			15	2102	-	all_hematologic(112;0.0378)		641					Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Missense_Mutation	SNP	ENST00000368147.4	37	c.1922A>G	CCDS41423.1	.	.	.	.	.	.	.	.	.	.	T	11.03	1.519401	0.27211	.	.	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.50813	0.73;0.73	4.95	4.95	0.65309	.	1.390910	0.05520	N	0.561957	T	0.25901	0.0631	L	0.46157	1.445	0.29970	N	0.818626	B	0.06786	0.001	B	0.11329	0.006	T	0.17531	-1.0366	10	0.19147	T	0.46	.	13.6072	0.62054	0.0:0.0:0.0:1.0	.	641	P02549	SPTA1_HUMAN	R	641	ENSP00000357130:Q641R;ENSP00000357129:Q641R	ENSP00000357129:Q641R	Q	-	2	0	SPTA1	156904388	1.000000	0.71417	0.312000	0.25196	0.300000	0.27592	6.793000	0.75130	2.080000	0.62538	0.528000	0.53228	CAG		0.468	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126		12	130	0	0	0	0.003163	0	12	130					C	158637764	T	C	158637764	3	2	166	1	0	0	0	0	1	0	0	0	15115	1580	55	4	5489	4	SPTA1	1	158637764	Missense_Mutation	SNP	T	TCGA-G9-6365-01A-11D-1786-08	101464400	158637764	90612857	3	7963											
DUSP27	92235	broad.mit.edu	37	chr1	167095421	167095421	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gaggaggaggagaaactgtaCgagcagtggaagaaggggca	15	3	19	4	1	0	2	0	0	0	2	0	8	0	5	0	6	3	3	0	6	4	1			TCGA-G9-6365-01A-11D-1786-08	TCGA-G9-6365-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	769e2ac9-a121-4b2a-a0fd-5f755b579811	bab99ce8-a7bc-4637-9322-032ea79b8c23	g.chr1:167095421C>T	ENST00000361200.2	+	6	1219	c.1053C>T	c.(1051-1053)taC>taT	p.Y351Y	DUSP27_ENST00000485151.1_3'UTR|DUSP27_ENST00000443333.1_Silent_p.Y351Y|DUSP27_ENST00000271385.5_Silent_p.Y351Y			Q5VZP5	DUS27_HUMAN	dual specificity phosphatase 27 (putative)	351					protein dephosphorylation (GO:0006470)		protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.Y351Y(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						AGAAACTGTACGAGCAGTGGA	0.662																																						ENST00000361200.2																			1	Substitution - coding silent(1)	p.Y351Y(1)	prostate(1)	NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						c.(1051-1053)taC>taT		dual specificity phosphatase 27 (putative)							37	41	40					1																	167095421		2203	4299	6502	SO:0001819	synonymous_variant	92235				protein dephosphorylation		protein tyrosine/serine/threonine phosphatase activity	g.chr1:167095421C>T	AF119045	CCDS30932.1	1q22-q24	2008-02-05			ENSG00000198842	ENSG00000198842			25034	protein-coding gene	gene with protein product							Standard	NM_001080426		Approved		uc001geb.1	Q5VZP5	OTTHUMG00000034434	ENST00000361200.2:c.1053C>T	1.37:g.167095421C>T						DUSP27_ENST00000485151.1_3'UTR|DUSP27_ENST00000271385.5_Silent_p.Y351Y|DUSP27_ENST00000443333.1_Silent_p.Y351Y	p.Y351Y			Q5VZP5	DUS27_HUMAN			6	1219	+			351					A0AUM4|Q9C074	Silent	SNP	ENST00000361200.2	37	c.1053C>T	CCDS30932.1																																																																																				0.662	DUSP27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083244.1	NM_001080426		5	18	0	0	0	0.001168	0	5	18					T	167095421	C	T	167095421	2	4	166	1	0	0	0	0	0	0	0	1	4824	547	19	1		1	DUSP27	1	167095421	Silent	SNP	C	TCGA-G9-6365-01A-11D-1786-08	8457657	167095421	82155200	4	7964											
OR2M2	391194	broad.mit.edu	37	chr1	248343988	248343988	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	catgggatctggagagggtcGttgcaaagctttcacgacct	9	10	13	9	2	2	1	1	0	1	1	3	4	2	2	1	3	2	3	1	3	1	2			TCGA-G9-6365-01A-11D-1786-08	TCGA-G9-6365-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	769e2ac9-a121-4b2a-a0fd-5f755b579811	bab99ce8-a7bc-4637-9322-032ea79b8c23	g.chr1:248343988G>A	ENST00000359682.2	+	1	701	c.701G>A	c.(700-702)cGt>cAt	p.R234H		NM_001004688.1	NP_001004688.1	Q96R28	OR2M2_HUMAN	olfactory receptor, family 2, subfamily M, member 2	234						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R234H(2)		NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(45)|ovary(3)|prostate(1)|skin(3)	70	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			GGAGAGGGTCGTTGCAAAGCT	0.468																																						ENST00000359682.2																			2	Substitution - Missense(2)	p.R234H(2)	prostate(1)|kidney(1)	NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(45)|ovary(3)|prostate(1)|skin(3)	70						c.(700-702)cGt>cAt		olfactory receptor, family 2, subfamily M, member 2							175	154	161					1																	248343988		2203	4299	6502	SO:0001583	missense	391194				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248343988G>A	AF399616	CCDS31106.1	1q44	2012-08-09			ENSG00000198601	ENSG00000198601		"GPCR / Class A : Olfactory receptors"	8268	protein-coding gene	gene with protein product						12213199	Standard	NM_001004688		Approved	OST423, OR2M2Q	uc010pzf.2	Q96R28	OTTHUMG00000040460	ENST00000359682.2:c.701G>A	1.37:g.248343988G>A	ENSP00000352710:p.Arg234His						p.R234H	NM_001004688.1	NP_001004688.1	Q96R28	OR2M2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0245)		1	701	+	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		234					A3KFT4	Missense_Mutation	SNP	ENST00000359682.2	37	c.701G>A	CCDS31106.1	.	.	.	.	.	.	.	.	.	.	g	6.369	0.436111	0.12104	.	.	ENSG00000198601	ENST00000359682	T	0.00333	8.07	2.03	-0.0998	0.13623	GPCR, rhodopsin-like superfamily (1);	1.102670	0.07291	N	0.872436	T	0.00412	0.0013	M	0.83603	2.65	0.09310	N	1	B	0.21606	0.058	B	0.21708	0.036	T	0.38478	-0.9659	10	0.72032	D	0.01	.	10.5714	0.45202	0.1236:0.0:0.8764:0.0	.	234	Q96R28	OR2M2_HUMAN	H	234	ENSP00000352710:R234H	ENSP00000352710:R234H	R	+	2	0	OR2M2	246410611	0.002000	0.14202	0.000000	0.03702	0.000000	0.00434	1.047000	0.30367	-0.169000	0.10834	-1.847000	0.00572	CGT		0.468	OR2M2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097356.2	NM_001004688		35	79	0	0	0	0.004289	0	35	79					A	248343988	G	A	248343988	3	1	166	1	0	0	0	0	1	0	0	0	11010	1145	40	1	703	1	OR2M2	1	248343988	Missense_Mutation	SNP	G	TCGA-G9-6365-01A-11D-1786-08	81248567	248343988	906633	5	7965											
OR2G6	391211	broad.mit.edu	37	chr1	248685462	248685462	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gctgcccctctgtggtcatcGcacactggatcatattttct	6	14	8	13	1	4	0	2	0	2	0	5	1	4	1	2	2	1	2	2	2	1	3	rs375204402		TCGA-G9-6365-01A-11D-1786-08	TCGA-G9-6365-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	769e2ac9-a121-4b2a-a0fd-5f755b579811	bab99ce8-a7bc-4637-9322-032ea79b8c23	g.chr1:248685462G>A	ENST00000343414.4	+	1	547	c.515G>A	c.(514-516)cGc>cAc	p.R172H		NM_001013355.1	NP_001013373.1	Q5TZ20	OR2G6_HUMAN	olfactory receptor, family 2, subfamily G, member 6	172						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R172H(1)		NS(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(40)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0156)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TGTGGTCATCGCACACTGGAT	0.552																																						ENST00000343414.4																			1	Substitution - Missense(1)	p.R172H(1)	prostate(1)	NS(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(40)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						c.(514-516)cGc>cAc		olfactory receptor, family 2, subfamily G, member 6		G	HIS/ARG	1,4405		0,1,2202	100	89	93		515	-0.1	0.2	1		93	0,8600		0,0,4300	no	missense	OR2G6	NM_001013355.1	29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	172/317	248685462	1,13005	2203	4300	6503	SO:0001583	missense	391211				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248685462G>A		CCDS31119.1	1q44	2012-08-09			ENSG00000188558	ENSG00000188558		"GPCR / Class A : Olfactory receptors"	27019	protein-coding gene	gene with protein product							Standard	NM_001013355		Approved		uc001ien.1	Q5TZ20	OTTHUMG00000040462	ENST00000343414.4:c.515G>A	1.37:g.248685462G>A	ENSP00000341291:p.Arg172His						p.R172H	NM_001013355.1	NP_001013373.1	Q5TZ20	OR2G6_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	547	+	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0156)	172					B2RP33	Missense_Mutation	SNP	ENST00000343414.4	37	c.515G>A	CCDS31119.1	.	.	.	.	.	.	.	.	.	.	N	0.686	-0.796343	0.02862	2.27E-4	0.0	ENSG00000188558	ENST00000343414	T	0.00107	8.72	3.68	-0.126	0.13515	GPCR, rhodopsin-like superfamily (1);	0.334216	0.21536	U	0.072969	T	0.00073	0.0002	N	0.11560	0.145	0.09310	N	1	B	0.20261	0.043	B	0.16722	0.016	T	0.09037	-1.0693	10	0.22706	T	0.39	.	3.4306	0.07426	0.4969:0.0:0.3217:0.1814	.	172	Q5TZ20	OR2G6_HUMAN	H	172	ENSP00000341291:R172H	ENSP00000341291:R172H	R	+	2	0	OR2G6	246752085	0.000000	0.05858	0.158000	0.22627	0.255000	0.26057	0.009000	0.13219	-0.069000	0.12931	0.400000	0.26472	CGC		0.552	OR2G6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097358.1	XM_372842		4	66	0	0	0	0.000248	0	4	66					A	248685462	G	A	248685462	3	1	166	1	0	0	0	0	1	0	0	0	11000	1087	38	1	517	1	OR2G6	1	248685462	Missense_Mutation	SNP	G	TCGA-G9-6365-01A-11D-1786-08	341474	248685462	565159	6	7966											
AFF3	3899	broad.mit.edu	37	chr2	100210742	100210742	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ctgccacttgttagaggatgCcggttcagcctgaaagcaga	10	9	12	10	1	1	3	1	1	0	2	1	4	1	4	3	2	4	3	3	2	2	3			TCGA-G9-6365-01A-11D-1786-08	TCGA-G9-6365-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	769e2ac9-a121-4b2a-a0fd-5f755b579811	3bf351f4-896d-479c-b925-0d0f4b383492	g.chr2:100210742C>T	ENST00000409236.2	-	13	1493	c.1381G>A	c.(1381-1383)Gca>Aca	p.A461T	AFF3_ENST00000356421.2_Missense_Mutation_p.A486T|AFF3_ENST00000317233.4_Missense_Mutation_p.A461T|AFF3_ENST00000409579.1_Missense_Mutation_p.A486T			P51826	AFF3_HUMAN	AF4/FMR2 family, member 3	461					embryonic hindlimb morphogenesis (GO:0035116)|regulation of transcription, DNA-templated (GO:0006355)|response to tumor necrosis factor (GO:0034612)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)	p.A486T(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						TTAGAGGATGCCGGTTCAGCC	0.443																																						ENST00000317233.4																			1	Substitution - Missense(1)	p.A486T(1)	lung(1)	NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						c.(1381-1383)Gca>Aca		AF4/FMR2 family, member 3							124	137	133					2																	100210742		2058	4218	6276	SO:0001583	missense	3899				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr2:100210742C>T	U34360	CCDS33258.1, CCDS42723.1	2q11.2-q12	2008-02-05	2005-06-27	2005-06-27	ENSG00000144218	ENSG00000144218			6473	protein-coding gene	gene with protein product		601464	"lymphoid nuclear protein related to AF4"	LAF4		8662235, 8555498	Standard	XM_005263945		Approved	MLLT2-like	uc002taf.3	P51826	OTTHUMG00000153011	ENST00000409236.2:c.1381G>A	2.37:g.100210742C>T	ENSP00000387207:p.Ala461Thr					AFF3_ENST00000356421.2_Missense_Mutation_p.A486T|AFF3_ENST00000409579.1_Missense_Mutation_p.A486T|AFF3_ENST00000409236.1_Missense_Mutation_p.A461T	p.A461T	NM_002285.2	NP_002276.2	P51826	AFF3_HUMAN			14	1616	-			461					B7ZM46|B9EGL9|D3DVI6|Q53RD6|Q53S47|Q53SI6|Q53TB9|Q59F27|Q8IWJ5	Missense_Mutation	SNP	ENST00000409236.2	37	c.1381G>A	CCDS42723.1	.	.	.	.	.	.	.	.	.	.	C	15.87	2.959682	0.53400	.	.	ENSG00000144218	ENST00000317233;ENST00000356421;ENST00000409579;ENST00000409236;ENST00000433370;ENST00000444786;ENST00000432288	T;T;T;T	0.65732	-0.17;-0.17;-0.17;-0.17	5.87	5.87	0.94306	.	0.205024	0.35207	N	0.003365	T	0.72716	0.3495	L	0.51422	1.61	0.42120	D	0.991429	D;D;D	0.64830	0.994;0.959;0.976	D;P;P	0.66716	0.946;0.721;0.461	T	0.71692	-0.4516	10	0.45353	T	0.12	.	14.3946	0.67003	0.0:0.7418:0.2582:0.0	.	614;461;486	B7Z4I6;P51826;P51826-2	.;AFF3_HUMAN;.	T	461;486;486;461;461;614;486	ENSP00000317421:A461T;ENSP00000348793:A486T;ENSP00000386834:A486T;ENSP00000387207:A461T	ENSP00000317421:A461T	A	-	1	0	AFF3	99577174	1.000000	0.71417	0.491000	0.27477	0.460000	0.32559	5.786000	0.69006	2.781000	0.95711	0.655000	0.94253	GCA		0.443	AFF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328982.3	NM_002285		4	232	0	0	0	0.000602	0	4	232					T	100210742	C	T	100210742	3	4	166	1	0	0	0	0	1	0	0	0	358	739	26	3	2343	3	AFF3	2	100210742	Missense_Mutation	SNP	C	TCGA-G9-6365-01A-11D-1786-08		100210742	142988631	7	7967											
TTN	7273	broad.mit.edu	37	chr2	179432336	179432336	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tggtccagtactgtcagaggGtttacttattgcaccagctg	8	13	11	9	0	1	1	1	0	0	1	2	1	2	1	2	2	4	4	2	2	3	5			TCGA-G9-6365-01A-11D-1786-08	TCGA-G9-6365-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	769e2ac9-a121-4b2a-a0fd-5f755b579811	bab99ce8-a7bc-4637-9322-032ea79b8c23	g.chr2:179432336G>A	ENST00000591111.1	-	276	73824	c.73600C>T	c.(73600-73602)Ccc>Tcc	p.P24534S	TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.P26175S|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.P23607S|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.P17302S|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.P17235S|TTN_ENST00000460472.2_Missense_Mutation_p.P17110S|TTN-AS1_ENST00000592600.1_RNA			Q8WZ42	TITIN_HUMAN	titin	24534	Fibronectin type-III 78. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.P17110S(2)|p.P23605S(1)|p.P17235S(1)|p.P23607S(1)|p.P17302S(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTGTCAGAGGGTTTACTTATT	0.388																																						ENST00000589042.1																			6	Substitution - Missense(6)	p.P17110S(2)|p.P23605S(1)|p.P17235S(1)|p.P23607S(1)|p.P17302S(1)	prostate(6)	NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(78523-78525)Ccc>Tcc		titin							84	79	80					2																	179432336		1897	4122	6019	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179432336G>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.73600C>T	2.37:g.179432336G>A	ENSP00000465570:p.Pro24534Ser					TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.P17302S|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.P17110S|TTN_ENST00000359218.5_Missense_Mutation_p.P17235S|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.P23607S|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.P24534S|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000419746.1_RNA	p.P26175S	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		326	78747	-			24534			Fibronectin type-III 90.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.78523C>T		.	.	.	.	.	.	.	.	.	.	G	13.58	2.278252	0.40294	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.46063	0.88;0.88;0.88;0.88	5.66	5.66	0.87406	Fibronectin, type III (3);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.76793	0.4037	H	0.95470	3.675	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.996;0.996;0.999	D	0.83731	0.0198	9	0.87932	D	0	.	19.7292	0.96176	0.0:0.0:1.0:0.0	.	17110;17235;17302;24534	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	S	23607;17110;17302;17235;17108	ENSP00000343764:P23607S;ENSP00000434586:P17110S;ENSP00000340554:P17302S;ENSP00000352154:P17235S	ENSP00000340554:P17302S	P	-	1	0	TTN	179140582	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.022000	0.88759	2.654000	0.90174	0.561000	0.74099	CCC		0.388	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		6	92	0	0	0	0.001168	0	6	92					A	179432336	G	A	179432336	3	1	166	1	0	0	0	0	1	0	0	0	16732	1261	44	3	29604	3	TTN	2	179432336	Missense_Mutation	SNP	G	TCGA-G9-6365-01A-11D-1786-08	79221594	179432336	63767037	8	7968											
EOMES	8320	broad.mit.edu	37	chr3	27763406	27763408	+	In_Frame_Del	DEL	GCG	GCG	-																															agcgcgcagtggccgcagccGcggcggcggcggcggcggcg																										TCGA-G9-6365-01A-11D-1786-08	TCGA-G9-6365-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	769e2ac9-a121-4b2a-a0fd-5f755b579811	bab99ce8-a7bc-4637-9322-032ea79b8c23	g.chr3:27763406_27763408delGCG	ENST00000295743.4	-	1	581_583	c.378_380delCGC	c.(376-381)gccgcg>gcg	p.126_127AA>A	EOMES_ENST00000537516.1_Intron|EOMES_ENST00000461503.1_Intron|EOMES_ENST00000449599.1_In_Frame_Del_p.126_127AA>A			O95936	EOMES_HUMAN	eomesodermin	126	Ala-rich.				brain development (GO:0007420)|cardioblast differentiation (GO:0010002)|CD8-positive, alpha-beta T cell differentiation involved in immune response (GO:0002302)|cell differentiation involved in embryonic placenta development (GO:0060706)|cerebral cortex neuron differentiation (GO:0021895)|cerebral cortex regionalization (GO:0021796)|endoderm formation (GO:0001706)|endodermal cell fate specification (GO:0001714)|interferon-gamma production (GO:0032609)|mesoderm formation (GO:0001707)|mesodermal to mesenchymal transition involved in gastrulation (GO:0060809)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|olfactory bulb development (GO:0021772)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of neuron differentiation (GO:0045664)|skeletal muscle cell differentiation (GO:0035914)|stem cell maintenance (GO:0019827)|trophectodermal cell differentiation (GO:0001829)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(3)|prostate(1)	21						ggccgcagccgcggcggcggcgg	0.778																																						ENST00000295743.4																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(3)|prostate(1)	21						c.(376-381)gcg>gc		eomesodermin				85,33,494		40,0,5,13,7,241						-3.4	0		dbSNP_126	1	353,77,1382		157,0,39,28,21,661	no	codingComplex	EOMES	NM_005442.2		197,0,44,41,28,902	A1A1,A1A2,A1R,A2A2,A2R,RR		23.7307,19.281,22.6073				438,110,1876				SO:0001651	inframe_deletion	8320				CD8-positive, alpha-beta T cell differentiation involved in immune response|cell differentiation involved in embryonic placenta development|endoderm formation|mesoderm formation|mesodermal to mesenchymal transition involved in gastrulation|positive regulation of transcription, DNA-dependent	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr3:27763406_27763408delGCG	BC025363	CCDS2646.1, CCDS63585.1	3p24.1	2011-06-13	2010-06-24		ENSG00000163508	ENSG00000163508		"T-boxes"	3372	protein-coding gene	gene with protein product	"T-box brain2"	604615	"eomesodermin (Xenopus laevis) homolog"			9888994, 9434949	Standard	NM_005442		Approved	TBR2	uc003cdy.4	O95936	OTTHUMG00000130570	ENST00000295743.4:c.378_380delCGC	3.37:g.27763415_27763417delGCG	ENSP00000295743:p.Ala130del					EOMES_ENST00000537516.1_Intron|EOMES_ENST00000449599.1_In_Frame_Del_p.AA128del|EOMES_ENST00000461503.1_Intron	p.AA128del			O95936	EOMES_HUMAN			1	581_583	-			128			Ala-rich.		B7Z4I2|B7ZA51|G3XAI5|Q8TAZ2|Q9UPM7	In_Frame_Del	DEL	ENST00000295743.4	37	c.378_380delCGC	CCDS2646.1																																																																																				0.778	EOMES-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252995.1	NM_005442		2	4						2	4	---	---	---	---	-	27763408	GCG	-	27763406	7	5	166	1	0	1	0	1	0	0	0	0	5147	1087	38	0	1704	0	EOMES	3	27763406	In_Frame_Del	DEL	GCG	TCGA-G9-6365-01A-11D-1786-08		27763406	170259024	9	7969											
CELSR3	1951	broad.mit.edu	37	chr3	48688391	48688391	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttgcactggcggccaagggCtcctgggcgacaggggcact	6	6	17	12	2	0	0	0	0	0	0	1	1	1	0	2	6	1	4	2	6	1	1			TCGA-G9-6365-01A-11D-1786-08	TCGA-G9-6365-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	769e2ac9-a121-4b2a-a0fd-5f755b579811	3bf351f4-896d-479c-b925-0d0f4b383492	g.chr3:48688391C>A	ENST00000164024.4	-	15	6584	c.6304G>T	c.(6304-6306)Gcc>Tcc	p.A2102S	CELSR3_ENST00000544264.1_Missense_Mutation_p.A2102S	NM_001407.2	NP_001398.2	Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	2102	Laminin EGF-like. {ECO:0000255|PROSITE- ProRule:PRU00460}.				axonal fasciculation (GO:0007413)|cilium assembly (GO:0042384)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of protein localization (GO:0032880)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		CGGCCAAGGGCTCCTGGGCGA	0.677																																						ENST00000544264.1																			0				NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83						c.(6304-6306)Gcc>Tcc		cadherin, EGF LAG seven-pass G-type receptor 3							37	41	40					3																	48688391		2197	4296	6493	SO:0001583	missense	1951				homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding	g.chr3:48688391C>A	AF231023	CCDS2775.1	3p21.31	2014-08-08	2013-02-18		ENSG00000008300	ENSG00000008300		"Cadherins / Major cadherins", "-", "GPCR / Class B : Orphans"	3230	protein-coding gene	gene with protein product	"flamingo homolog 1 (Drosophila)"	604264	"cadherin EGF LAG seven-pass G-type receptor 3, flamingo (Drosophila) homolog"	EGFL1		9693030	Standard	NM_001407		Approved	MEGF2, HFMI1, FMI1, CDHF11	uc003cuf.1	Q9NYQ7	OTTHUMG00000133544	ENST00000164024.4:c.6304G>T	3.37:g.48688391C>A	ENSP00000164024:p.Ala2102Ser					CELSR3_ENST00000164024.4_Missense_Mutation_p.A2102S	p.A2102S			Q9NYQ7	CELR3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)	15	6584	-			2102			Laminin EGF-like.		O75092	Missense_Mutation	SNP	ENST00000164024.4	37	c.6304G>T	CCDS2775.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.987169	0.74589	.	.	ENSG00000008300	ENST00000164024;ENST00000544264	T;T	0.61742	0.08;0.08	5.14	5.14	0.70334	EGF-like, laminin (4);EGF-like region, conserved site (1);	.	.	.	.	T	0.62502	0.2433	L	0.35723	1.085	0.48135	D	0.999597	P;P	0.51537	0.853;0.946	P;P	0.53146	0.464;0.719	T	0.64765	-0.6330	9	0.56958	D	0.05	.	18.9822	0.92758	0.0:1.0:0.0:0.0	.	2102;2172	Q9NYQ7;Q5Y190	CELR3_HUMAN;.	S	2102	ENSP00000164024:A2102S;ENSP00000445694:A2102S	ENSP00000164024:A2102S	A	-	1	0	CELSR3	48663395	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.392000	0.79840	2.567000	0.86603	0.655000	0.94253	GCC		0.677	CELSR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257523.1	NM_001407		6	77	1	0	3.59834e-05	0.001168	4.44885e-05	6	77					A	48688391	C	A	48688391	3	1	166	1	0	0	0	0	1	0	0	0	3223	797	28	5	3718	5	CELSR3	3	48688391	Missense_Mutation	SNP	C	TCGA-G9-6365-01A-11D-1786-08	20924985	48688391	149334039	10	7970											
TKT	7086	broad.mit.edu	37	chr3	53263147	53263147	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggccatctgggagggcccgTcttcccctggggtgtggggg	2	8	20	11	1	2	0	0	0	2	0	3	1	3	1	4	7	0	0	4	7	0	1			TCGA-G9-6365-01A-11D-1786-08	TCGA-G9-6365-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	769e2ac9-a121-4b2a-a0fd-5f755b579811	bab99ce8-a7bc-4637-9322-032ea79b8c23	g.chr3:53263147T>A	ENST00000462138.1	-	10	1359	c.1271A>T	c.(1270-1272)gAc>gTc	p.D424V	TKT_ENST00000296289.6_Missense_Mutation_p.D377V|TKT_ENST00000423516.1_Missense_Mutation_p.D432V|TKT_ENST00000461139.1_5'UTR|TKT_ENST00000423525.2_Missense_Mutation_p.D424V			P29401	TKT_HUMAN	transketolase	424					carbohydrate metabolic process (GO:0005975)|energy reserve metabolic process (GO:0006112)|glyceraldehyde-3-phosphate biosynthetic process (GO:0046166)|pentose-phosphate shunt (GO:0006098)|pentose-phosphate shunt, non-oxidative branch (GO:0009052)|regulation of growth (GO:0040008)|small molecule metabolic process (GO:0044281)|xylulose biosynthetic process (GO:0005999)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|peroxisome (GO:0005777)|vesicle (GO:0031982)	cofactor binding (GO:0048037)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|transketolase activity (GO:0004802)	p.D424V(1)		endometrium(5)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	17		Prostate(884;0.0959)		BRCA - Breast invasive adenocarcinoma(193;0.000159)|OV - Ovarian serous cystadenocarcinoma(275;0.000314)|Kidney(197;0.00178)|KIRC - Kidney renal clear cell carcinoma(197;0.00201)		GGAGGGCCCGTCTTCCCCTGG	0.572																																					Colon(133;1506 2347 35238 42177)	ENST00000462138.1																			1	Substitution - Missense(1)	p.D424V(1)	prostate(1)	endometrium(5)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	17						c.(1270-1272)gAc>gTc		transketolase	Thiamine(DB00152)						109	114	112					3																	53263147		2203	4300	6503	SO:0001583	missense	7086				energy reserve metabolic process|xylulose biosynthetic process	cytosol	protein binding|transketolase activity	g.chr3:53263147T>A		CCDS2871.1, CCDS58834.1	3p14.3	2008-07-31	2008-07-31		ENSG00000163931	ENSG00000163931	2.2.1.1		11834	protein-coding gene	gene with protein product	"Wernicke-Korsakoff syndrome"	606781				1567394	Standard	NM_001064		Approved		uc011beq.2	P29401	OTTHUMG00000158192	ENST00000462138.1:c.1271A>T	3.37:g.53263147T>A	ENSP00000417773:p.Asp424Val					TKT_ENST00000296289.6_Missense_Mutation_p.D377V|TKT_ENST00000461139.1_5'UTR|TKT_ENST00000423516.1_Missense_Mutation_p.D432V|TKT_ENST00000423525.2_Missense_Mutation_p.D424V	p.D424V			P29401	TKT_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000159)|OV - Ovarian serous cystadenocarcinoma(275;0.000314)|Kidney(197;0.00178)|KIRC - Kidney renal clear cell carcinoma(197;0.00201)	10	1359	-		Prostate(884;0.0959)	424					A8K089|B4DE31|E7EPA7|Q8TBA3|Q96HH3	Missense_Mutation	SNP	ENST00000462138.1	37	c.1271A>T	CCDS2871.1	.	.	.	.	.	.	.	.	.	.	T	26.4	4.735992	0.89482	.	.	ENSG00000163931	ENST00000462138;ENST00000423525;ENST00000423516;ENST00000296289;ENST00000414014	D;D;D;D	0.92965	-3.14;-3.14;-3.14;-3.14	5.61	5.61	0.85477	Transketolase-like, pyrimidine-binding domain (2);	0.000000	0.85682	D	0.000000	D	0.97056	0.9038	M	0.93678	3.445	0.80722	D	1	D;D;D	0.89917	0.996;1.0;0.997	D;D;D	0.78314	0.964;0.991;0.98	D	0.98087	1.0407	10	0.87932	D	0	-26.2822	15.8074	0.78524	0.0:0.0:0.0:1.0	.	432;341;424	E7EPA7;B3KSI4;P29401	.;.;TKT_HUMAN	V	424;424;432;377;258	ENSP00000417773:D424V;ENSP00000405455:D424V;ENSP00000391481:D432V;ENSP00000296289:D377V	ENSP00000296289:D377V	D	-	2	0	TKT	53238187	1.000000	0.71417	0.957000	0.39632	0.955000	0.61496	8.037000	0.88933	2.127000	0.65507	0.533000	0.62120	GAC		0.572	TKT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350356.1			5	157	0	0	0	0.001168	0	5	157					A	53263147	T	A	53263147	3	1	166	1	0	0	0	0	1	0	0	0	15931	1667	58	5	620	5	TKT	3	53263147	Missense_Mutation	SNP	T	TCGA-G9-6365-01A-11D-1786-08	4574756	53263147	144759283	11	7971											
CEP97	79598	broad.mit.edu	37	chr3	101450746	101450746	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcacctgcttacctacccagAagtcttgctatactttcttt	8	15	5	13	0	2	1	0	0	2	1	2	1	2	1	3	0	5	3	3	0	5	7			TCGA-G9-6365-01A-11D-1786-08	TCGA-G9-6365-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	769e2ac9-a121-4b2a-a0fd-5f755b579811	bab99ce8-a7bc-4637-9322-032ea79b8c23	g.chr3:101450746A>T	ENST00000341893.3	+	5	1262	c.510A>T	c.(508-510)agA>agT	p.R170S	CEP97_ENST00000494050.1_Missense_Mutation_p.R170S|CEP97_ENST00000327230.4_Missense_Mutation_p.R170S			Q8IW35	CEP97_HUMAN	centrosomal protein 97kDa	170					cell projection organization (GO:0030030)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule organizing center (GO:0005815)|protein complex (GO:0043234)		p.R170S(2)		cervix(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	29						ACCTACCCAGAAGTCTTGCTA	0.373																																						ENST00000341893.3																			2	Substitution - Missense(2)	p.R170S(2)	prostate(2)	cervix(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	29						c.(508-510)agA>agT		centrosomal protein 97kDa							171	167	169					3																	101450746		2203	4300	6503	SO:0001583	missense	79598					centrosome|nucleus	protein binding	g.chr3:101450746A>T	AL833269	CCDS2944.1	3q12.3	2014-02-20	2008-01-08	2008-01-08	ENSG00000182504	ENSG00000182504			26244	protein-coding gene	gene with protein product		615864	"leucine-rich repeats and IQ motif containing 2"	LRRIQ2		17719545, 18068367	Standard	NM_024548		Approved	FLJ23047	uc003dvk.1	Q8IW35	OTTHUMG00000159162	ENST00000341893.3:c.510A>T	3.37:g.101450746A>T	ENSP00000342510:p.Arg170Ser					CEP97_ENST00000327230.4_Missense_Mutation_p.R170S|CEP97_ENST00000494050.1_Missense_Mutation_p.R170S	p.R170S			Q8IW35	CEP97_HUMAN			5	1262	+			170					B5MDY8|Q8NA71|Q9H5T9	Missense_Mutation	SNP	ENST00000341893.3	37	c.510A>T	CCDS2944.1	.	.	.	.	.	.	.	.	.	.	A	15.03	2.713408	0.48517	.	.	ENSG00000182504	ENST00000341893;ENST00000327230;ENST00000494050	T;T;T	0.53423	0.62;0.62;0.62	5.95	-2.15	0.07102	.	0.222643	0.47455	D	0.000228	T	0.15478	0.0373	N	0.01656	-0.775	0.29573	N	0.849768	B;B;B	0.31769	0.339;0.063;0.037	B;B;B	0.22753	0.035;0.041;0.018	T	0.19321	-1.0309	10	0.36615	T	0.2	-16.8323	10.6555	0.45673	0.2755:0.1277:0.5968:0.0	.	170;170;170	E9PG22;Q8IW35-2;Q8IW35	.;.;CEP97_HUMAN	S	170	ENSP00000342510:R170S;ENSP00000325881:R170S;ENSP00000418185:R170S	ENSP00000325881:R170S	R	+	3	2	CEP97	102933436	0.875000	0.30112	0.978000	0.43139	0.998000	0.95712	0.189000	0.17037	-0.343000	0.08351	0.528000	0.53228	AGA		0.373	CEP97-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000353597.2	NM_024548		7	140	0	0	0	0.001984	0	7	140					T	101450746	A	T	101450746	3	4	166	1	0	0	0	0	1	0	0	0	3263	243	9	5	528	5	CEP97	3	101450746	Missense_Mutation	SNP	A	TCGA-G9-6365-01A-11D-1786-08	48187599	101450746	96571684	12	7972											
FGA	2243	broad.mit.edu	37	chr4	155506852	155506852	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaattgtttgctgtaacttgAagatttaccacgggaaggga	13	12	11	5	1	0	2	0	1	0	1	0	4	0	4	1	2	3	3	1	2	5	6			TCGA-G9-6365-01A-11D-1786-08	TCGA-G9-6365-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	769e2ac9-a121-4b2a-a0fd-5f755b579811	bab99ce8-a7bc-4637-9322-032ea79b8c23	g.chr4:155506852A>G	ENST00000302053.3	-	5	1807	c.1729T>C	c.(1729-1731)Tca>Cca	p.S577P	FGA_ENST00000403106.3_Missense_Mutation_p.S577P	NM_000508.3	NP_000499.1	P02671	FIBA_HUMAN	fibrinogen alpha chain	577					blood coagulation (GO:0007596)|blood coagulation, common pathway (GO:0072377)|cell-matrix adhesion (GO:0007160)|cellular protein complex assembly (GO:0043623)|extracellular matrix organization (GO:0030198)|negative regulation of blood coagulation, common pathway (GO:2000261)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of exocytosis (GO:0045921)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of peptide hormone secretion (GO:0090277)|positive regulation of protein secretion (GO:0050714)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive regulation of vasoconstriction (GO:0045907)|protein polymerization (GO:0051258)|response to calcium ion (GO:0051592)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|cell cortex (GO:0005938)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|plasma membrane (GO:0005886)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|vesicle (GO:0031982)	structural molecule activity (GO:0005198)	p.S577P(1)		NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	73	all_hematologic(180;0.215)	Renal(120;0.0458)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)	CTGTAACTTGAAGATTTACCA	0.443																																					NSCLC(143;340 1922 20892 22370 48145)	ENST00000302053.3																			1	Substitution - Missense(1)	p.S577P(1)	prostate(1)	NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	73						c.(1729-1731)Tca>Cca		fibrinogen alpha chain	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)						114	110	111					4																	155506852		2203	4300	6503	SO:0001583	missense	2243				platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding	g.chr4:155506852A>G		CCDS3787.1, CCDS47152.1	4q28	2014-09-17			ENSG00000171560	ENSG00000171560		"Fibrinogen C domain containing", "Endogenous ligands"	3661	protein-coding gene	gene with protein product		134820	"fibrinogen, A alpha polypeptide"				Standard	NM_000508		Approved		uc003iod.1	P02671	OTTHUMG00000150330	ENST00000302053.3:c.1729T>C	4.37:g.155506852A>G	ENSP00000306361:p.Ser577Pro					FGA_ENST00000403106.3_Missense_Mutation_p.S577P	p.S577P	NM_000508.3	NP_000499.1	P02671	FIBA_HUMAN			5	1807	-	all_hematologic(180;0.215)	Renal(120;0.0458)	577					A8K3E4|D3DP14|D3DP15|Q4QQH7|Q9BX62|Q9UCH2	Missense_Mutation	SNP	ENST00000302053.3	37	c.1729T>C	CCDS3787.1	.	.	.	.	.	.	.	.	.	.	A	17.80	3.477705	0.63849	.	.	ENSG00000171560	ENST00000302053;ENST00000403106	T;T	0.58940	0.3;2.6	5.93	-1.77	0.07982	.	14.928900	0.00166	N	0.000012	T	0.66237	0.2769	M	0.67397	2.05	0.09310	N	1	D;D	0.67145	0.98;0.996	P;P	0.58331	0.837;0.806	T	0.52653	-0.8547	10	0.59425	D	0.04	.	2.3897	0.04375	0.4219:0.1208:0.0716:0.3858	.	577;577	P02671-2;P02671	.;FIBA_HUMAN	P	577	ENSP00000306361:S577P;ENSP00000385981:S577P	ENSP00000306361:S577P	S	-	1	0	FGA	155726302	0.174000	0.23070	0.030000	0.17652	0.205000	0.24178	0.414000	0.21164	-0.173000	0.10761	0.533000	0.62120	TCA		0.443	FGA-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317593.1	NM_000508		25	82	0	0	0	0.00333	0	25	82					G	155506852	A	G	155506852	3	3	166	1	0	0	0	0	1	0	0	0	5830	246	9	4	923	4	FGA	4	155506852	Missense_Mutation	SNP	A	TCGA-G9-6365-01A-11D-1786-08		155506852	35647424	13	7973											
BRD9	65980	broad.mit.edu	37	chr5	889273	889273	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	aaaagcaaaaaatccatgggGatcttttctgaaagcaaaga	19	8	8	6	0	2	2	0	1	2	1	3	3	3	3	1	2	2	2	1	2	7	2			TCGA-G9-6365-01A-11D-1786-08	TCGA-G9-6365-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	769e2ac9-a121-4b2a-a0fd-5f755b579811	bab99ce8-a7bc-4637-9322-032ea79b8c23	g.chr5:889273G>A	ENST00000467963.1	-	5	635	c.469C>T	c.(469-471)Ccc>Tcc	p.P157S	BRD9_ENST00000388890.4_Missense_Mutation_p.P41S|BRD9_ENST00000323510.4_Missense_Mutation_p.P41S|BRD9_ENST00000494422.1_5'Flank|BRD9_ENST00000483173.1_Missense_Mutation_p.P104S|BRD9_ENST00000435709.2_Missense_Mutation_p.P41S	NM_023924.4	NP_076413.3	Q9H8M2	BRD9_HUMAN	bromodomain containing 9	157	Bromo. {ECO:0000255|PROSITE- ProRule:PRU00035}.				chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)		lysine-acetylated histone binding (GO:0070577)|nucleic acid binding (GO:0003676)	p.P41S(1)|p.P157S(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|pancreas(1)|prostate(3)	29			Epithelial(17;0.00202)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00815)|Lung(60;0.185)			AATCCATGGGGATCTTTTCTG	0.343																																						ENST00000323510.4																			2	Substitution - Missense(2)	p.P41S(1)|p.P157S(1)	prostate(2)	breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|pancreas(1)|prostate(3)	29						c.(121-123)Ccc>Tcc		bromodomain containing 9							46	46	46					5																	889273		2202	4298	6500	SO:0001583	missense	65980						nucleic acid binding	g.chr5:889273G>A	AK023503	CCDS34127.1, CCDS34128.1, CCDS34127.2, CCDS34128.2	5p15.33	2008-02-05			ENSG00000028310	ENSG00000028310			25818	protein-coding gene	gene with protein product						12477932	Standard	NM_023924		Approved	FLJ13441	uc003jbq.3	Q9H8M2	OTTHUMG00000159258	ENST00000467963.1:c.469C>T	5.37:g.889273G>A	ENSP00000419765:p.Pro157Ser					BRD9_ENST00000467963.1_Missense_Mutation_p.P157S|BRD9_ENST00000388890.4_Missense_Mutation_p.P41S|BRD9_ENST00000483173.1_Missense_Mutation_p.P104S|BRD9_ENST00000435709.2_Missense_Mutation_p.P41S	p.P41S			Q9H8M2	BRD9_HUMAN	Epithelial(17;0.00202)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00815)|Lung(60;0.185)		2	120	-			157					A6NFY8|B4DMQ2|B4DR93|Q2XUS1|Q6UWU9|Q8IUS4|Q9H5Q5|Q9H7R9	Missense_Mutation	SNP	ENST00000467963.1	37	c.121C>T	CCDS34127.2	.	.	.	.	.	.	.	.	.	.	G	14.30	2.494494	0.44352	.	.	ENSG00000028310	ENST00000323510;ENST00000388890;ENST00000483173;ENST00000467963;ENST00000435709;ENST00000489093	T;T;T;T;T;T	0.27890	1.64;1.64;2.26;1.64;1.64;1.64	5.68	5.68	0.88126	Bromodomain (5);	0.100278	0.64402	D	0.000001	T	0.44540	0.1298	L	0.38692	1.165	0.80722	D	1	D;B;B;D	0.64830	0.986;0.306;0.286;0.994	P;B;B;P	0.58660	0.843;0.125;0.123;0.699	T	0.33523	-0.9865	10	0.87932	D	0	.	19.3811	0.94536	0.0:0.0:1.0:0.0	.	104;157;41;41	B4DMQ2;Q9H8M2;Q9H8M2-1;Q9H8M2-3	.;BRD9_HUMAN;.;.	S	41;41;104;157;41;41	ENSP00000323557:P41S;ENSP00000373542:P41S;ENSP00000419845:P104S;ENSP00000419765:P157S;ENSP00000402984:P41S;ENSP00000420722:P41S	ENSP00000323557:P41S	P	-	1	0	BRD9	942273	1.000000	0.71417	1.000000	0.80357	0.185000	0.23345	7.187000	0.77730	2.676000	0.91093	0.563000	0.77884	CCC		0.343	BRD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354113.1	NM_023924		13	15	0	0	0	0.003163	0	13	15					A	889273	G	A	889273	3	1	166	1	0	0	0	0	1	0	0	0	1507	1174	41	3	1372	3	BRD9	5	889273	Missense_Mutation	SNP	G	TCGA-G9-6365-01A-11D-1786-08		889273	180025987	14	7974											
GFM2	84340	broad.mit.edu	37	chr5	74056731	74056731	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	actctaacatttgtacctggTagagaactgcaatttcttcc	11	14	6	10	0	2	1	0	0	2	1	3	2	3	1	2	1	4	3	2	1	5	6			TCGA-G9-6365-01A-11D-1786-08	TCGA-G9-6365-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	769e2ac9-a121-4b2a-a0fd-5f755b579811	bab99ce8-a7bc-4637-9322-032ea79b8c23	g.chr5:74056731T>C	ENST00000296805.3	-	3	601	c.144A>G	c.(142-144)ctA>ctG	p.L48L	GFM2_ENST00000345239.2_Silent_p.L48L|GFM2_ENST00000509430.1_Silent_p.L48L|GFM2_ENST00000427854.2_Silent_p.L48L	NM_032380.3	NP_115756.2			G elongation factor, mitochondrial 2									p.L48L(1)		breast(2)|endometrium(2)|large_intestine(4)|lung(5)|prostate(1)	14		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Breast(144;0.231)		OV - Ovarian serous cystadenocarcinoma(47;1.86e-56)		TTGTACCTGGTAGAGAACTGC	0.338																																						ENST00000296805.3																			1	Substitution - coding silent(1)	p.L48L(1)	prostate(1)	breast(2)|endometrium(2)|large_intestine(4)|lung(5)|prostate(1)	14						c.(142-144)ctA>ctG		G elongation factor, mitochondrial 2							94	104	101					5																	74056731		2203	4300	6503	SO:0001819	synonymous_variant	84340				mitochondrial translation|ribosome disassembly	mitochondrion	GTP binding|GTPase activity	g.chr5:74056731T>C	AF111808	CCDS4023.1, CCDS4024.1, CCDS47232.1	5q13	2008-02-05			ENSG00000164347	ENSG00000164347			29682	protein-coding gene	gene with protein product		606544				11735030	Standard	NM_001281302		Approved	EFG2, FLJ21661	uc003kdh.1	Q969S9	OTTHUMG00000102058	ENST00000296805.3:c.144A>G	5.37:g.74056731T>C						GFM2_ENST00000509430.1_Silent_p.L48L|GFM2_ENST00000427854.2_Silent_p.L48L|GFM2_ENST00000345239.2_Silent_p.L48L	p.L48L	NM_032380.3	NP_115756.2	Q969S9	RRF2M_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;1.86e-56)	3	601	-		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Breast(144;0.231)	48						Silent	SNP	ENST00000296805.3	37	c.144A>G	CCDS4023.1																																																																																				0.338	GFM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219860.2	NM_032380		6	174	0	0	0	0.00308	0	6	174					C	74056731	T	C	74056731	2	2	166	1	0	0	0	0	0	0	0	1	6342	1625	57	4		4	GFM2	5	74056731	Silent	SNP	T	TCGA-G9-6365-01A-11D-1786-08	73167458	74056731	106858529	15	7975											
PCDHB5	26167	broad.mit.edu	37	chr5	140516811	140516811	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acggcgactcgggccagaacGcctggctgtcgtaccagctg	7	6	14	14	5	0	1	0	0	0	1	2	2	0	1	3	3	3	3	3	3	2	1			TCGA-G9-6365-01A-11D-1786-08	TCGA-G9-6365-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	769e2ac9-a121-4b2a-a0fd-5f755b579811	bab99ce8-a7bc-4637-9322-032ea79b8c23	g.chr5:140516811G>A	ENST00000231134.5	+	1	2012	c.1795G>A	c.(1795-1797)Gcc>Acc	p.A599T		NM_015669.2	NP_056484.1	Q9Y5E4	PCDB5_HUMAN	protocadherin beta 5	599	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.A599T(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	81			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGGCCAGAACGCCTGGCTGTC	0.716																																						ENST00000231134.5																			1	Substitution - Missense(1)	p.A599T(1)	prostate(1)	breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	81						c.(1795-1797)Gcc>Acc									33	36	35					5																	140516811		1894	3839	5733	SO:0001583	missense	0				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding|protein binding	g.chr5:140516811G>A	AF152498	CCDS4247.1	5q31	2010-01-26			ENSG00000113209	ENSG00000113209		"Cadherins / Protocadherins : Clustered"	8690	other	protocadherin		606331				10380929	Standard	NM_015669		Approved	DKFZp586B0217, PCDH-BETA5	uc003liq.3	Q9Y5E4	OTTHUMG00000129616	ENST00000231134.5:c.1795G>A	5.37:g.140516811G>A	ENSP00000231134:p.Ala599Thr						p.A599T	NM_015669.2	NP_056484.1	Q9Y5E4	PCDB5_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	2012	+			599			Cadherin 6.		Q549F4|Q9UFU9	Missense_Mutation	SNP	ENST00000231134.5	37	c.1795G>A	CCDS4247.1	.	.	.	.	.	.	.	.	.	.	G	19.07	3.755915	0.69648	.	.	ENSG00000113209	ENST00000231134	T	0.22134	1.97	4.65	3.62	0.41486	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.53110	0.1776	M	0.93016	3.37	0.30631	N	0.75745	D	0.76494	0.999	D	0.68353	0.957	T	0.61043	-0.7142	9	0.87932	D	0	.	12.4712	0.55787	0.0:0.0:0.7006:0.2994	.	599	Q9Y5E4	PCDB5_HUMAN	T	599	ENSP00000231134:A599T	ENSP00000231134:A599T	A	+	1	0	PCDHB5	140496995	0.000000	0.05858	1.000000	0.80357	0.982000	0.71751	0.215000	0.17562	2.301000	0.77427	0.430000	0.28490	GCC		0.716	PCDHB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251811.1	NM_015669		20	62	0	0	0	0.002299	0	20	62					A	140516811	G	A	140516811	3	1	166	1	0	0	0	0	1	0	0	0	11545	1087	38	1	1797	1	PCDHB5	5	140516811	Missense_Mutation	SNP	G	TCGA-G9-6365-01A-11D-1786-08	66460080	140516811	40398449	16	7976											
PCDHB12	56124	broad.mit.edu	37	chr5	140590277	140590277	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acggtgactcgggccagaacGcctggctgtcgtaccagctg	7	7	14	13	4	0	2	0	1	0	1	2	2	0	2	3	3	3	3	3	3	2	1			TCGA-G9-6365-01A-11D-1786-08	TCGA-G9-6365-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	769e2ac9-a121-4b2a-a0fd-5f755b579811	bab99ce8-a7bc-4637-9322-032ea79b8c23	g.chr5:140590277G>A	ENST00000239450.2	+	1	1987	c.1798G>A	c.(1798-1800)Gcc>Acc	p.A600T	PCDHB12_ENST00000541609.1_Missense_Mutation_p.A263T	NM_018932.3	NP_061755.1	Q9Y5F1	PCDBC_HUMAN	protocadherin beta 12	600	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.A600T(1)		NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGGCCAGAACGCCTGGCTGTC	0.716																																						ENST00000239450.2																			1	Substitution - Missense(1)	p.A600T(1)	prostate(1)	NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1)	83						c.(1798-1800)Gcc>Acc																																						SO:0001583	missense	0				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	g.chr5:140590277G>A	AF152491	CCDS4254.1	5q31	2010-01-26			ENSG00000120328	ENSG00000120328		"Cadherins / Protocadherins : Clustered"	8683	other	protocadherin		606338				10380929	Standard	NM_018932		Approved	PCDH-BETA12	uc003liz.3	Q9Y5F1	OTTHUMG00000129620	ENST00000239450.2:c.1798G>A	5.37:g.140590277G>A	ENSP00000239450:p.Ala600Thr					PCDHB12_ENST00000541609.1_Missense_Mutation_p.A263T	p.A600T	NM_018932.3	NP_061755.1	Q9Y5F1	PCDBC_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1987	+			600			Cadherin 6.		B4DDU1	Missense_Mutation	SNP	ENST00000239450.2	37	c.1798G>A	CCDS4254.1	.	.	.	.	.	.	.	.	.	.	G	18.73	3.685796	0.68157	.	.	ENSG00000120328	ENST00000541609;ENST00000239450;ENST00000507840	T;T	0.22134	1.97;1.97	3.25	2.1	0.27182	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.57651	0.2068	H	0.97340	3.985	0.33069	D	0.535096	D	0.89917	1.0	D	0.87578	0.998	T	0.72760	-0.4196	9	0.87932	D	0	.	9.6764	0.40043	0.0:0.0:0.6081:0.3919	.	600	Q9Y5F1	PCDBC_HUMAN	T	263;600;220	ENSP00000440199:A263T;ENSP00000239450:A600T	ENSP00000239450:A600T	A	+	1	0	PCDHB12	140570461	0.003000	0.15002	1.000000	0.80357	0.985000	0.73830	0.337000	0.19841	1.529000	0.49120	0.479000	0.44913	GCC		0.716	PCDHB12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251815.2	NM_018932		7	234	0	0	0	0.008291	0	7	234					A	140590277	G	A	140590277	3	1	166	1	0	0	0	0	1	0	0	0	11537	1087	38	1	1800	1	PCDHB12	5	140590277	Missense_Mutation	SNP	G	TCGA-G9-6365-01A-11D-1786-08	73466	140590277	40324983	17	7977											
GCNT2	2651	broad.mit.edu	37	chr6	10586319	10586319	+	Intron	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aattgagcccgccaaaaagtTatgagaagctgaacagttcc	15	8	9	9	1	0	3	0	3	0	1	1	4	1	3	3	0	3	3	3	0	6	3			TCGA-G9-6365-01A-11D-1786-08	TCGA-G9-6365-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	769e2ac9-a121-4b2a-a0fd-5f755b579811	bab99ce8-a7bc-4637-9322-032ea79b8c23	g.chr6:10586319T>C	ENST00000379597.3	+	2	1481				GCNT2_ENST00000316170.3_Intron|GCNT2_ENST00000410107.1_Intron|GCNT2_ENST00000495262.1_Intron|GCNT2_ENST00000265012.4_Missense_Mutation_p.Y33H|GCNT2_ENST00000397423.2_Intron			Q8N0V5	GNT2A_HUMAN	glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (I blood group)						maintenance of lens transparency (GO:0036438)|negative regulation of cell-substrate adhesion (GO:0010812)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of protein kinase B signaling (GO:0051897)|posttranscriptional regulation of gene expression (GO:0010608)|protein glycosylation (GO:0006486)|transforming growth factor beta receptor signaling pathway (GO:0007179)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity (GO:0008109)	p.Y33H(1)		endometrium(2)|kidney(1)|large_intestine(5)|lung(2)|ovary(2)	12	Ovarian(93;0.107)|Breast(50;0.148)	all_hematologic(90;0.107)		KIRC - Kidney renal clear cell carcinoma(1;0.099)|Kidney(1;0.119)		GCCAAAAAGTTATGAGAAGCT	0.388																																						ENST00000265012.4																			1	Substitution - Missense(1)	p.Y33H(1)	prostate(1)	endometrium(2)|kidney(1)|large_intestine(5)|lung(2)|ovary(2)	12						c.(97-99)Tat>Cat		glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (I blood group)							144	139	141					6																	10586319		2203	4300	6503	SO:0001627	intron_variant	2651					Golgi membrane|integral to membrane	N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity	g.chr6:10586319T>C	L41605	CCDS4512.1, CCDS4513.1, CCDS34338.1	6p24.2	2014-07-18	2006-02-23		ENSG00000111846	ENSG00000111846	2.4.1.150	"Blood group antigens", "Glucosaminyl (N-acetyl) transferase and xylosyltransferase family"	4204	protein-coding gene	gene with protein product	"Ii blood group", "unassigned linkage group 3"	600429	"glucosaminyl (N-acetyl) transferase 5", "glucosaminyl (N-acetyl) transferase 2, I-branching enzyme", "glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (Ii blood group)", "cataract, congenital"	NACGT1, II, GCNT5, CCAT		8449405, 9915862	Standard	NM_145649		Approved	IGNT, NAGCT1, bA421M1.1, bA360O19.2, ULG3	uc003mze.3	Q06430	OTTHUMG00000014244	ENST00000379597.3:c.926-35265T>C	6.37:g.10586319T>C						GCNT2_ENST00000397423.2_Intron|GCNT2_ENST00000379597.3_Intron|GCNT2_ENST00000495262.1_Intron|GCNT2_ENST00000410107.1_Intron|GCNT2_ENST00000316170.3_Intron	p.Y33H	NM_145655.3	NP_663630.2	Q8N0V5	GNT2A_HUMAN		KIRC - Kidney renal clear cell carcinoma(1;0.099)|Kidney(1;0.119)	1	341	+	Ovarian(93;0.107)|Breast(50;0.148)	all_hematologic(90;0.107)	34						Missense_Mutation	SNP	ENST00000379597.3	37	c.97T>C	CCDS34338.1	.	.	.	.	.	.	.	.	.	.	T	8.459	0.854811	0.17106	.	.	ENSG00000111846	ENST00000265012	T	0.09723	2.95	4.8	0.907	0.19321	.	.	.	.	.	T	0.01029	0.0034	N	0.04018	-0.295	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.48364	-0.9042	9	0.16420	T	0.52	.	3.9066	0.09185	0.1635:0.3608:0.0:0.4757	.	33	Q8NFS9	GNT2C_HUMAN	H	33	ENSP00000265012:Y33H	ENSP00000265012:Y33H	Y	+	1	0	GCNT2	10694305	0.000000	0.05858	0.000000	0.03702	0.045000	0.14185	0.270000	0.18607	-0.091000	0.12440	0.460000	0.39030	TAT		0.388	GCNT2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000327912.3	NM_145649		4	156	0	0	0	0.000602	0	4	156					C	10586319	T	C	10586319	1	2	166	0	1	0	0	0	0	0	0	0	6301	1754	61	4		4	GCNT2	6	10586319	Intron	SNP	T	TCGA-G9-6365-01A-11D-1786-08		10586319	160528748	18	7978											
UBR2	23304	broad.mit.edu	37	chr6	42609419	42609427	+	In_Frame_Del	DEL	CTAGTAAAC	CTAGTAAAC	-																															ggagaagaaatgggttctctCtagtaaaccaggtaagtgtt																										TCGA-G9-6365-01A-11D-1786-08	TCGA-G9-6365-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	769e2ac9-a121-4b2a-a0fd-5f755b579811	bab99ce8-a7bc-4637-9322-032ea79b8c23	g.chr6:42609419_42609427delCTAGTAAAC	ENST00000372899.1	+	17	2278_2286	c.2020_2028delCTAGTAAAC	c.(2020-2028)ctagtaaacdel	p.LVN674del	UBR2_ENST00000372901.1_In_Frame_Del_p.LVN674del|UBR2_ENST00000372883.3_In_Frame_Del_p.LVN178del	NM_015255.2	NP_056070.1	Q8IWV8	UBR2_HUMAN	ubiquitin protein ligase E3 component n-recognin 2	674					cellular response to leucine (GO:0071233)|chromatin silencing (GO:0006342)|histone H2A ubiquitination (GO:0033522)|male meiosis I (GO:0007141)|negative regulation of TOR signaling (GO:0032007)|spermatogenesis (GO:0007283)|ubiquitin-dependent protein catabolic process (GO:0006511)	chromatin (GO:0000785)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ubiquitin ligase complex (GO:0000151)	leucine binding (GO:0070728)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(10)|kidney(7)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|skin(5)	64	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.004)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.196)			TGGGTTCTCTCTAGTAAACCAGGTAAGTG	0.411																																						ENST00000372899.1																			0				breast(1)|central_nervous_system(1)|endometrium(10)|kidney(7)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|skin(5)	64						c.(2020-2028)del		ubiquitin protein ligase E3 component n-recognin 2																																				SO:0001651	inframe_deletion	23304				cellular response to leucine|chromatin silencing|histone H2A ubiquitination|negative regulation of TOR signaling cascade	nucleus|plasma membrane	leucine binding|zinc ion binding	g.chr6:42609419_42609427delCTAGTAAAC	BC024217	CCDS4870.1, CCDS55001.1	6p21.1	2008-06-23	2005-01-10	2005-01-12	ENSG00000024048	ENSG00000024048		"Ubiquitin protein ligase E3 component n-recognins"	21289	protein-coding gene	gene with protein product		609134	"chromosome 6 open reading frame 133"	C6orf133			Standard	NM_015255		Approved	bA49A4.1, dJ392M17.3, KIAA0349	uc011dur.2	Q8IWV8	OTTHUMG00000014703	ENST00000372899.1:c.2020_2028delCTAGTAAAC	6.37:g.42609419_42609427delCTAGTAAAC	ENSP00000361990:p.Leu674_Asn676del					UBR2_ENST00000372883.3_In_Frame_Del_p.LVN178del|UBR2_ENST00000372901.1_In_Frame_Del_p.LVN674del	p.LVN674del	NM_015255.2	NP_056070.1	Q8IWV8	UBR2_HUMAN	Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.004)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.196)		17	2278_2286	+	Colorectal(47;0.196)		674					O15057|Q4VXK2|Q5TFH6|Q6P2I2|Q6ZUD0	In_Frame_Del	DEL	ENST00000372899.1	37	c.2020_2028delCTAGTAAAC	CCDS4870.1																																																																																				0.411	UBR2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040558.2	NM_015255		31	88						31	88	---	---	---	---	-	42609427	CTAGTAAAC	-	42609419	7	5	166	1	0	1	0	1	0	0	0	0	16899	912	32	0	2232	0	UBR2	6	42609419	In_Frame_Del	DEL	CTAGTAAAC	TCGA-G9-6365-01A-11D-1786-08	32023100	42609419	128505648	19	7979											
OPN5	221391	broad.mit.edu	37	chr6	47763181	47763181	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcctcttgctcccaacggCtgtgatcgtgttctcctacg	4	13	9	15	3	2	1	0	1	2	0	5	1	3	1	3	1	4	3	3	1	2	3			TCGA-G9-6365-01A-11D-1786-08	TCGA-G9-6365-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	769e2ac9-a121-4b2a-a0fd-5f755b579811	bab99ce8-a7bc-4637-9322-032ea79b8c23	g.chr6:47763181C>T	ENST00000371211.2	+	4	666	c.638C>T	c.(637-639)gCt>gTt	p.A213V	OPN5_ENST00000489301.2_Missense_Mutation_p.A213V|OPN5_ENST00000393699.2_Missense_Mutation_p.A213V|OPN5_ENST00000244799.4_3'UTR	NM_181744.3	NP_859528.1	Q6U736	OPN5_HUMAN	opsin 5	213					phototransduction (GO:0007602)|protein-chromophore linkage (GO:0018298)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)	G-protein coupled receptor activity (GO:0004930)|photoreceptor activity (GO:0009881)	p.A213V(1)		endometrium(1)|large_intestine(3)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	29						CTCCCAACGGCTGTGATCGTG	0.542																																					Melanoma(28;740 973 10870 42660 45347)	ENST00000489301.2																			1	Substitution - Missense(1)	p.A213V(1)	prostate(1)	endometrium(1)|large_intestine(3)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	29						c.(637-639)gCt>gTt		opsin 5							119	105	109					6																	47763181		2203	4300	6503	SO:0001583	missense	221391				phototransduction|protein-chromophore linkage|visual perception	integral to membrane	G-protein coupled receptor activity|photoreceptor activity	g.chr6:47763181C>T	AY288419	CCDS4923.1	6p12.3	2012-08-08	2004-01-23		ENSG00000124818	ENSG00000124818		"GPCR / Class A : Opsin receptors"	19992	protein-coding gene	gene with protein product	"neuropsin"	609042	"transmembrane protein 13"	TMEM13		14623103, 14623098	Standard	NR_033806		Approved	neuropsin, dJ402H5.1	uc003ozc.3	Q6U736	OTTHUMG00000014803	ENST00000371211.2:c.638C>T	6.37:g.47763181C>T	ENSP00000360255:p.Ala213Val					OPN5_ENST00000371211.2_Missense_Mutation_p.A213V|OPN5_ENST00000244799.4_3'UTR|OPN5_ENST00000393699.2_Missense_Mutation_p.A213V	p.A213V			Q6U736	OPN5_HUMAN			4	723	+			213					A0AV33|Q5T5B9|Q5T886|Q7Z603|Q86SL5	Missense_Mutation	SNP	ENST00000371211.2	37	c.638C>T	CCDS4923.1	.	.	.	.	.	.	.	.	.	.	C	11.54	1.669947	0.29693	.	.	ENSG00000124818	ENST00000489301;ENST00000371211;ENST00000393699	T;T;T	0.35421	1.31;1.31;1.31	5.91	5.91	0.95273	GPCR, rhodopsin-like superfamily (1);	0.173853	0.56097	D	0.000028	T	0.11239	0.0274	N	0.16656	0.425	0.40391	D	0.979548	B	0.12013	0.005	B	0.12156	0.007	T	0.11155	-1.0599	10	0.16896	T	0.51	.	13.479	0.61324	0.0:0.9289:0.0:0.0711	.	213	Q6U736	OPN5_HUMAN	V	213	ENSP00000426991:A213V;ENSP00000360255:A213V;ENSP00000377302:A213V	ENSP00000360255:A213V	A	+	2	0	OPN5	47871140	0.999000	0.42202	1.000000	0.80357	0.998000	0.95712	3.666000	0.54540	2.803000	0.96430	0.650000	0.86243	GCT		0.542	OPN5-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000359451.1	NM_181744		32	80	0	0	0	0.008361	0	32	80					T	47763181	C	T	47763181	3	4	166	1	0	0	0	0	1	0	0	0	10883	797	28	3	652	3	OPN5	6	47763181	Missense_Mutation	SNP	C	TCGA-G9-6365-01A-11D-1786-08	5153762	47763181	123351886	20	7980											
GCK	2645	broad.mit.edu	37	chr7	44185094	44185094	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagagagcggggcgggctcAcctggggtgcagcttgtaca	7	6	19	9	2	1	1	1	0	0	1	1	3	1	2	1	6	4	4	1	6	1	2			TCGA-G9-6365-01A-11D-1786-08	TCGA-G9-6365-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	769e2ac9-a121-4b2a-a0fd-5f755b579811	bab99ce8-a7bc-4637-9322-032ea79b8c23	g.chr7:44185094A>G	ENST00000403799.3	-	9	1723		c.e9+1		GCK_ENST00000395796.3_Splice_Site|GCK_ENST00000345378.2_Splice_Site|GCK_ENST00000437084.1_Splice_Site	NM_000162.3	NP_000153.1	P35557	HXK4_HUMAN	glucokinase (hexokinase 4)						calcium ion import (GO:0070509)|carbohydrate metabolic process (GO:0005975)|cellular glucose homeostasis (GO:0001678)|cellular response to glucose starvation (GO:0042149)|cellular response to insulin stimulus (GO:0032869)|cellular response to leptin stimulus (GO:0044320)|detection of glucose (GO:0051594)|endocrine pancreas development (GO:0031018)|fructose 2,6-bisphosphate metabolic process (GO:0006003)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glucose transport (GO:0015758)|glycogen biosynthetic process (GO:0005978)|glycolytic process (GO:0006096)|hexose transport (GO:0008645)|NADP metabolic process (GO:0006739)|negative regulation of epinephrine secretion (GO:0032811)|negative regulation of gluconeogenesis (GO:0045721)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of glycolytic process (GO:0045821)|positive regulation of insulin secretion (GO:0032024)|positive regulation of phosphorylation (GO:0042327)|regulation of glucose transport (GO:0010827)|regulation of glycolytic process (GO:0006110)|regulation of insulin secretion (GO:0050796)|regulation of potassium ion transport (GO:0043266)|second-messenger-mediated signaling (GO:0019932)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|secretory granule (GO:0030141)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|glucokinase activity (GO:0004340)|glucose binding (GO:0005536)|magnesium ion binding (GO:0000287)	p.?(2)		central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	37						GGGCGGGCTCACCTGGGGTGC	0.627																																						ENST00000403799.3																			2	Unknown(2)	p.?(2)	prostate(2)	central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	37						c.e9+1		glucokinase (hexokinase 4)							23	24	23					7																	44185094		2203	4300	6503	SO:0001630	splice_region_variant	2645				cellular response to insulin stimulus|cellular response to leptin stimulus|detection of glucose|endocrine pancreas development|glucose homeostasis|glucose transport|glycolysis|negative regulation of gluconeogenesis|positive regulation of glycogen biosynthetic process|positive regulation of insulin secretion|regulation of glucose transport|regulation of glycolysis|transmembrane transport	cytosol|nucleoplasm	ATP binding|glucokinase activity|glucose binding|protein binding	g.chr7:44185094A>G	AF041014	CCDS5479.1, CCDS5480.1, CCDS5481.1	7p15.3-p15.1	2008-02-07	2008-02-07		ENSG00000106633	ENSG00000106633	2.7.1.2, 2.7.1.1		4195	protein-coding gene	gene with protein product		138079	"maturity onset diabetes of the young 2"	MODY2		1740341, 1502186	Standard	NM_033507		Approved	HK4	uc003tkk.1	P35557	OTTHUMG00000022903	ENST00000403799.3:c.1253+1T>C	7.37:g.44185094A>G						GCK_ENST00000345378.2_Splice_Site|GCK_ENST00000437084.1_Splice_Site|GCK_ENST00000395796.3_Splice_Site		NM_000162.3	NP_000153.1	P35557	HXK4_HUMAN			9	1723	-								A4D2J2|A4D2J3|Q05810	Splice_Site	SNP	ENST00000403799.3	37		CCDS5479.1	.	.	.	.	.	.	.	.	.	.	a	27.2	4.812864	0.90707	.	.	ENSG00000106633	ENST00000336642;ENST00000403799;ENST00000395796;ENST00000345378;ENST00000437084	.	.	.	5.57	5.57	0.84162	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.3896	0.74731	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	GCK	44151619	1.000000	0.71417	0.979000	0.43373	0.964000	0.63967	9.286000	0.95898	2.122000	0.65172	0.459000	0.35465	.		0.627	GCK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251069.2		Intron	3	9	0	0	0	0.000248	0	3	9					G	44185094	A	G	44185094	5	3	166	1	0	0	0	0	0	0	1	0	6293	173	6	4	150	4	GCK	7	44185094	Splice_Site	SNP	A	TCGA-G9-6365-01A-11D-1786-08		44185094	114953569	21	7981											
ATP6V1F	9296	broad.mit.edu	37	chr7	128503029	128503029	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gactggtttcctgctgggcgGcataggggagcttaacaaga	9	9	15	8	1	0	1	0	0	0	1	1	3	1	2	1	5	3	4	1	5	3	3	rs10958		TCGA-G9-6365-01A-11D-1786-08	TCGA-G9-6365-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	769e2ac9-a121-4b2a-a0fd-5f755b579811	bab99ce8-a7bc-4637-9322-032ea79b8c23	g.chr7:128503029G>A	ENST00000249289.4	+	1	150	c.71G>A	c.(70-72)gGc>gAc	p.G24D	ATP6V1F_ENST00000492758.1_Missense_Mutation_p.G24D|RP11-309L24.2_ENST00000469965.1_RNA	NM_004231.3	NP_004222.2	Q16864	VATF_HUMAN	ATPase, H+ transporting, lysosomal 14kDa, V1 subunit F	24			G -> V (in dbSNP:rs10958).		ATP catabolic process (GO:0006200)|ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|proton transport (GO:0015992)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|proton-transporting two-sector ATPase complex (GO:0016469)|proton-transporting V-type ATPase, V1 domain (GO:0033180)|vacuolar proton-transporting V-type ATPase complex (GO:0016471)	ATPase activity, uncoupled (GO:0042624)|hydrogen ion transmembrane transporter activity (GO:0015078)|proton-transporting ATPase activity, rotational mechanism (GO:0046961)	p.G24D(1)		lung(1)|ovary(1)|prostate(1)	3						CTGCTGGGCGGCATAGGGGAG	0.582											OREG0018299	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000492758.1																			1	Substitution - Missense(1)	p.G24D(1)	prostate(1)	lung(1)|ovary(1)|prostate(1)	3						c.(70-72)gGc>gAc		ATPase, H+ transporting, lysosomal 14kDa, V1 subunit F							89	77	81					7																	128503029		2203	4300	6503	SO:0001583	missense	9296				ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|membrane fraction|proton-transporting V-type ATPase, V1 domain|vacuolar proton-transporting V-type ATPase complex	ATPase activity, uncoupled|hydrogen ion transporting ATP synthase activity, rotational mechanism|protein binding|proton-transporting ATPase activity, rotational mechanism	g.chr7:128503029G>A	D49400	CCDS5807.1, CCDS56511.1	7q32.1	2010-04-21	2002-08-29		ENSG00000128524	ENSG00000128524	3.6.3.14	"ATPases / V-type"	16832	protein-coding gene	gene with protein product		607160				8581736, 8621738	Standard	NM_004231		Approved	ATP6S14, VATF, Vma7	uc022all.1	Q16864	OTTHUMG00000158365	ENST00000249289.4:c.71G>A	7.37:g.128503029G>A	ENSP00000249289:p.Gly24Asp		OREG0018299	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1565	ATP6V1F_ENST00000249289.4_Missense_Mutation_p.G24D	p.G24D	NM_001198909.1	NP_001185838.1	Q16864	VATF_HUMAN			1	72	+			24		G -> V (in dbSNP:rs10958).			C9J2K4|Q6IBA8	Missense_Mutation	SNP	ENST00000249289.4	37	c.71G>A	CCDS5807.1	.	.	.	.	.	.	.	.	.	.	G	34	5.343090	0.95783	.	.	ENSG00000128524	ENST00000249289;ENST00000492758	D;T	0.84873	-1.91;-1.45	4.83	4.83	0.62350	.	0.051224	0.85682	D	0.000000	D	0.95417	0.8512	H	0.98351	4.21	0.80722	D	1	D	0.60160	0.987	D	0.68192	0.956	D	0.97415	1.0005	10	0.72032	D	0.01	-23.656	16.7528	0.85490	0.0:0.0:1.0:0.0	.	24	Q16864	VATF_HUMAN	D	24	ENSP00000249289:G24D;ENSP00000417378:G24D	ENSP00000249289:G24D	G	+	2	0	ATP6V1F	128290265	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.716000	0.91420	2.235000	0.73313	0.478000	0.44815	GGC		0.582	ATP6V1F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350800.1	NM_004231		4	99	0	0	0	0.000248	0	4	99					A	128503029	G	A	128503029	3	1	166	1	0	0	0	0	1	0	0	0	1185	1203	42	3	73	3	ATP6V1F	7	128503029	Missense_Mutation	SNP	G	TCGA-G9-6365-01A-11D-1786-08	84317935	128503029	30635634	22	7982											
DLGAP2	9228	broad.mit.edu	37	chr8	1626466	1626466	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttcccaggccacatcaccaCggaggacaaaggccttcagt	11	6	10	14	1	2	0	2	0	0	0	3	2	3	2	4	4	0	1	4	4	1	2	rs368030190		TCGA-G9-6365-01A-11D-1786-08	TCGA-G9-6365-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	769e2ac9-a121-4b2a-a0fd-5f755b579811	bab99ce8-a7bc-4637-9322-032ea79b8c23	g.chr8:1626466C>T	ENST00000421627.2	+	9	2269	c.2135C>T	c.(2134-2136)aCg>aTg	p.T712M	DLGAP2_ENST00000524065.1_3'UTR	NM_004745.3	NP_004736.2	Q9P1A6	DLGP2_HUMAN	discs, large (Drosophila) homolog-associated protein 2	791					neuron-neuron synaptic transmission (GO:0007270)	cell junction (GO:0030054)|neurofilament (GO:0005883)|postsynaptic membrane (GO:0045211)		p.T756M(1)|p.T720M(1)		breast(1)|endometrium(6)|lung(31)|prostate(3)	41		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)		CACATCACCACGGAGGACAAA	0.622																																						ENST00000421627.2																			2	Substitution - Missense(2)	p.T756M(1)|p.T720M(1)	prostate(2)	breast(1)|endometrium(6)|lung(31)|prostate(3)	41						c.(2134-2136)aCg>aTg		discs, large (Drosophila) homolog-associated protein 2							58	66	64					8																	1626466		2127	4221	6348	SO:0001583	missense	9228				neuron-neuron synaptic transmission	cell junction|neurofilament|postsynaptic density|postsynaptic membrane	protein binding	g.chr8:1626466C>T	AB000275	CCDS47760.1, CCDS75689.1	8p23	2007-12-06	2001-11-28		ENSG00000198010	ENSG00000198010			2906	protein-coding gene	gene with protein product		605438	"discs, large (Drosophila) homolog-associated protein 2"			9286858, 10854099	Standard	NM_004745		Approved	DAP-2	uc003wpl.4	Q9P1A6	OTTHUMG00000163599	ENST00000421627.2:c.2135C>T	8.37:g.1626466C>T	ENSP00000400258:p.Thr712Met					DLGAP2_ENST00000524065.1_3'UTR	p.T712M	NM_004745.3	NP_004736.2	Q9P1A6	DLGP2_HUMAN		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)	9	2269	+		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)	791					A1QCF8|A1QCF9|A5D8Y2|O14488|O14664|Q9P1A7	Missense_Mutation	SNP	ENST00000421627.2	37	c.2135C>T	CCDS47760.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	6.997|6.997	0.554083|0.554083	0.13374|0.13374	.|.	.|.	ENSG00000198010|ENSG00000198010	ENST00000520901|ENST00000356067;ENST00000421627	.|T	.|0.18338	.|2.22	5.19|5.19	-7.58|-7.58	0.01313|0.01313	.|.	.|0.241686	.|0.42294	.|N	.|0.000738	T|T	0.06005|0.06005	0.0156|0.0156	N|N	0.03608|0.03608	-0.345|-0.345	0.20196|0.20196	N|N	0.999924|0.999924	.|B;B	.|0.13594	.|0.008;0.003	.|B;B	.|0.15870	.|0.005;0.014	T|T	0.10683|0.10683	-1.0619|-1.0619	5|10	.|0.24483	.|T	.|0.36	-7.5861|-7.5861	15.5649|15.5649	0.76284|0.76284	0.0:0.5437:0.0:0.4563|0.0:0.5437:0.0:0.4563	.|.	.|777;791	.|Q9P1A6-2;Q9P1A6	.|.;DLGP2_HUMAN	W|M	715|743;712	.|ENSP00000400258:T712M	.|ENSP00000348366:T743M	R|T	+|+	1|2	2|0	DLGAP2|DLGAP2	1613873|1613873	0.998000|0.998000	0.40836|0.40836	0.005000|0.005000	0.12908|0.12908	0.659000|0.659000	0.38960|0.38960	0.443000|0.443000	0.21644|0.21644	-2.466000|-2.466000	0.00533|0.00533	-1.418000|-1.418000	0.01112|0.01112	CGG|ACG		0.622	DLGAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374478.1	NM_004745		17	53	0	0	0	0.004007	0	17	53					T	1626466	C	T	1626466	3	4	166	1	0	0	0	0	1	0	0	0	4560	536	19	1	2165	1	DLGAP2	8	1626466	Missense_Mutation	SNP	C	TCGA-G9-6365-01A-11D-1786-08		1626466	144737556	23	7983											
PREX2	80243	broad.mit.edu	37	chr8	68950516	68950516	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aatcttttggtgtactgcaaAagaaaacacaggtaagatcc	16	10	8	7	0	1	2	0	0	1	2	2	2	2	2	1	2	3	3	1	2	7	4			TCGA-G9-6365-01A-11D-1786-08	TCGA-G9-6365-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	769e2ac9-a121-4b2a-a0fd-5f755b579811	bab99ce8-a7bc-4637-9322-032ea79b8c23	g.chr8:68950516A>T	ENST00000288368.4	+	7	1105	c.828A>T	c.(826-828)aaA>aaT	p.K276N	PREX2_ENST00000529398.1_3'UTR	NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2	276	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				adult locomotory behavior (GO:0008344)|dendrite morphogenesis (GO:0048813)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|positive regulation of Rac GTPase activity (GO:0032855)		Rac GTPase activator activity (GO:0030675)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)	p.K276N(2)		NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						TGTACTGCAAAAGAAAACACA	0.403																																						ENST00000288368.4																			2	Substitution - Missense(2)	p.K276N(2)	prostate(2)	NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						c.(826-828)aaA>aaT		phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2							72	69	70					8																	68950516		2203	4300	6503	SO:0001583	missense	80243				G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity	g.chr8:68950516A>T	AK024079	CCDS6201.1	8q13.1	2014-06-13	2008-09-15	2008-09-15	ENSG00000046889	ENSG00000046889		"Rho guanine nucleotide exchange factors"	22950	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 129"	612139	"DEP domain containing 2"	DEPDC2		15304342, 15304343	Standard	NM_024870		Approved	DEP.2, FLJ12987, P-REX2, PPP1R129	uc003xxv.1	Q70Z35	OTTHUMG00000164402	ENST00000288368.4:c.828A>T	8.37:g.68950516A>T	ENSP00000288368:p.Lys276Asn					PREX2_ENST00000529398.1_3'UTR	p.K276N	NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN			7	1105	+			276			PH.		B4DFX0|Q32KL0|Q32KL1|Q6R7Q3|Q6R7Q4|Q9H805|Q9H961	Missense_Mutation	SNP	ENST00000288368.4	37	c.828A>T	CCDS6201.1	.	.	.	.	.	.	.	.	.	.	A	19.68	3.872754	0.72180	.	.	ENSG00000046889	ENST00000288368;ENST00000396539;ENST00000354677	D	0.91740	-2.9	5.62	3.24	0.37175	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	0.000000	0.85682	D	0.000000	D	0.93321	0.7871	L	0.47016	1.485	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.996;0.986;0.997	D	0.91923	0.5549	10	0.87932	D	0	.	8.9814	0.35968	0.7897:0.0:0.2103:0.0	.	276;276;276	Q70Z35-2;Q70Z35;Q70Z35-3	.;PREX2_HUMAN;.	N	276	ENSP00000288368:K276N	ENSP00000288368:K276N	K	+	3	2	PREX2	69113070	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	4.390000	0.59646	0.420000	0.25954	-0.256000	0.11100	AAA		0.403	PREX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378620.1	NM_025170		14	33	0	0	0	0.00245	0	14	33					T	68950516	A	T	68950516	3	4	166	1	0	0	0	0	1	0	0	0	12477	11	1	5	854	5	PREX2	8	68950516	Missense_Mutation	SNP	A	TCGA-G9-6365-01A-11D-1786-08	67324050	68950516	77413506	24	7984											
ADAMTSL1	92949	broad.mit.edu	37	chr9	18504896	18504896	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctggggcccatggagtgaaTgctcacgcacctgcgggggt	6	7	16	12	2	1	1	1	1	0	0	1	2	1	2	3	5	2	2	3	5	1	0			TCGA-G9-6365-01A-11D-1786-08	TCGA-G9-6365-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	769e2ac9-a121-4b2a-a0fd-5f755b579811	bab99ce8-a7bc-4637-9322-032ea79b8c23	g.chr9:18504896T>C	ENST00000380548.4	+	2	472	c.133T>C	c.(133-135)Tgc>Cgc	p.C45R	ADAMTSL1_ENST00000380570.4_Missense_Mutation_p.C45R|ADAMTSL1_ENST00000327883.7_Missense_Mutation_p.C45R|ADAMTSL1_ENST00000431052.2_Missense_Mutation_p.C45R|ADAMTSL1_ENST00000380566.4_Missense_Mutation_p.C45R|ADAMTSL1_ENST00000276935.6_Missense_Mutation_p.C45R	NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1	45	TSP type-1 1. {ECO:0000255|PROSITE- ProRule:PRU00210}.					proteinaceous extracellular matrix (GO:0005578)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.C45R(2)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		ATGGAGTGAATGCTCACGCAC	0.607																																						ENST00000380548.4																			2	Substitution - Missense(2)	p.C45R(2)	prostate(2)	breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42						c.(133-135)Tgc>Cgc		ADAMTS-like 1							54	57	56					9																	18504896		2203	4300	6503	SO:0001583	missense	92949					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding	g.chr9:18504896T>C	AF176313	CCDS6485.1, CCDS47954.1	9p21.3	2013-01-11			ENSG00000178031	ENSG00000178031		"Immunoglobulin superfamily / I-set domain containing"	14632	protein-coding gene	gene with protein product	"punctin"	609198	"chromosome 9 open reading frame 94"	C9orf94		9628581, 11805097	Standard	NM_001040272		Approved	ADAMTSR1, FLJ35283	uc003zne.4	Q8N6G6	OTTHUMG00000019604	ENST00000380548.4:c.133T>C	9.37:g.18504896T>C	ENSP00000369921:p.Cys45Arg					ADAMTSL1_ENST00000276935.6_Missense_Mutation_p.C45R|ADAMTSL1_ENST00000431052.2_Missense_Mutation_p.C45R|ADAMTSL1_ENST00000380570.4_Missense_Mutation_p.C45R|ADAMTSL1_ENST00000327883.7_Missense_Mutation_p.C45R|ADAMTSL1_ENST00000380566.4_Missense_Mutation_p.C45R	p.C45R	NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN		GBM - Glioblastoma multiforme(50;1.29e-17)	2	472	+			45			TSP type-1 1.		A6PVN1|A8K7E1|Q496M6|Q496M8|Q5T708|Q5VZT8|Q8NAI9|Q96RW4|Q9BXY3	Missense_Mutation	SNP	ENST00000380548.4	37	c.133T>C	CCDS47954.1	.	.	.	.	.	.	.	.	.	.	T	24.8	4.572993	0.86542	.	.	ENSG00000178031	ENST00000380548;ENST00000327883;ENST00000431052;ENST00000380570;ENST00000380566;ENST00000276935	D;D;D;D;D;D	0.98585	-5.01;-5.01;-5.01;-5.01;-5.01;-5.01	5.31	5.31	0.75309	.	.	.	.	.	D	0.99378	0.9781	H	0.97806	4.08	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.98376	1.0556	9	0.87932	D	0	.	15.2592	0.73610	0.0:0.0:0.0:1.0	.	45;45	Q8N6G6;Q8N6G6-2	ATL1_HUMAN;.	R	45	ENSP00000369921:C45R;ENSP00000327887:C45R;ENSP00000401157:C45R;ENSP00000369944:C45R;ENSP00000369940:C45R;ENSP00000276935:C45R	ENSP00000276935:C45R	C	+	1	0	ADAMTSL1	18494896	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	7.873000	0.87193	2.009000	0.58944	0.402000	0.26972	TGC		0.607	ADAMTSL1-012	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401206.1			11	98	0	0	0	0.008291	0	11	98					C	18504896	T	C	18504896	3	2	166	1	0	0	0	0	1	0	0	0	274	1464	51	4	139	4	ADAMTSL1	9	18504896	Missense_Mutation	SNP	T	TCGA-G9-6365-01A-11D-1786-08		18504896	122708535	25	7985											
COL27A1	85301	broad.mit.edu	37	chr9	117052373	117052373	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caaggcaaggcaggggccccAggccggaggggggtccaggt	8	2	20	11	1	0	0	0	0	0	0	1	1	1	1	4	10	0	2	4	10	2	0			TCGA-G9-6365-01A-11D-1786-08	TCGA-G9-6365-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	769e2ac9-a121-4b2a-a0fd-5f755b579811	bab99ce8-a7bc-4637-9322-032ea79b8c23	g.chr9:117052373A>G	ENST00000356083.3	+	46	4633	c.4242A>G	c.(4240-4242)ccA>ccG	p.P1414P		NM_032888.2	NP_116277.2	Q8IZC6	CORA1_HUMAN	collagen, type XXVII, alpha 1	1414	Collagen-like 13.|Pro-rich.|Triple-helical region.				extracellular matrix organization (GO:0030198)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|fibrillar collagen trimer (GO:0005583)	extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)	p.P1414P(1)		central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						CAGGGGCCCCAGGCCGGAGGG	0.642																																						ENST00000356083.3																			1	Substitution - coding silent(1)	p.P1414P(1)	prostate(1)	central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						c.(4240-4242)ccA>ccG		collagen, type XXVII, alpha 1							35	42	40					9																	117052373		2203	4300	6503	SO:0001819	synonymous_variant	85301				cell adhesion		extracellular matrix structural constituent	g.chr9:117052373A>G	AB058773	CCDS6802.1	9q33.1	2013-01-16			ENSG00000196739	ENSG00000196739		"Collagens"	22986	protein-coding gene	gene with protein product		608461				12766169	Standard	NM_032888		Approved	KIAA1870, MGC11337, FLJ11895	uc011lxl.2	Q8IZC6	OTTHUMG00000020537	ENST00000356083.3:c.4242A>G	9.37:g.117052373A>G							p.P1414P	NM_032888.2	NP_116277.2	Q8IZC6	CORA1_HUMAN			46	4633	+			1414			Collagen-like 13.|Pro-rich.|Triple-helical region.		Q66K43|Q96JF7	Silent	SNP	ENST00000356083.3	37	c.4242A>G	CCDS6802.1																																																																																				0.642	COL27A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053763.1	NM_032888		3	89	0	0	0	0.000248	0	3	89					G	117052373	A	G	117052373	2	3	166	1	0	0	0	0	0	0	0	1	3685	175	7	4		4	COL27A1	9	117052373	Silent	SNP	A	TCGA-G9-6365-01A-11D-1786-08	98547477	117052373	24161058	26	7986											
KIAA1217	56243	broad.mit.edu	37	chr10	24508665	24508665	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gttcagtttccaagtcttccCgcaatatcccaaggagacac	11	10	7	13	1	2	1	1	0	1	1	5	2	5	1	3	1	0	3	3	1	4	4			TCGA-G9-6365-01A-11D-1786-08	TCGA-G9-6365-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	769e2ac9-a121-4b2a-a0fd-5f755b579811	bab99ce8-a7bc-4637-9322-032ea79b8c23	g.chr10:24508665C>T	ENST00000376454.3	+	2	211	c.181C>T	c.(181-183)Cgc>Tgc	p.R61C	KIAA1217_ENST00000376462.1_5'UTR|KIAA1217_ENST00000458595.1_Missense_Mutation_p.R61C|KIAA1217_ENST00000376452.3_Missense_Mutation_p.R61C	NM_019590.3	NP_062536.2	Q5T5P2	SKT_HUMAN	KIAA1217	61					embryonic skeletal system development (GO:0048706)	cytoplasm (GO:0005737)		p.R61C(1)		breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						CAAGTCTTCCCGCAATATCCC	0.498																																						ENST00000376454.3																			1	Substitution - Missense(1)	p.R61C(1)	prostate(1)	breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						c.(181-183)Cgc>Tgc		KIAA1217							72	70	71					10																	24508665		2203	4300	6503	SO:0001583	missense	56243				embryonic skeletal system development	cytoplasm		g.chr10:24508665C>T	BX640796	CCDS31165.1, CCDS41496.1, CCDS60501.1, CCDS60502.1, CCDS60504.1, CCDS60505.1	10p12.31	2009-09-16			ENSG00000120549	ENSG00000120549			25428	protein-coding gene	gene with protein product	"sickle tail"					10574462	Standard	XM_005252500		Approved	DKFZP761L0424, SKT	uc001iru.4	Q5T5P2	OTTHUMG00000017824	ENST00000376454.3:c.181C>T	10.37:g.24508665C>T	ENSP00000365637:p.Arg61Cys					KIAA1217_ENST00000376452.3_Missense_Mutation_p.R61C|KIAA1217_ENST00000376462.1_5'UTR|KIAA1217_ENST00000458595.1_Missense_Mutation_p.R61C	p.R61C	NM_019590.3	NP_062536.2	Q5T5P2	SKT_HUMAN			2	211	+			61					A5LHW9|A6NLF3|A6PVQ5|A6PVQ6|A6PVQ7|B9EGK4|Q4KMG4|Q5T5P3|Q5T7H3|Q6MZZ6|Q6ZUI4|Q8WV45|Q9NSR2|Q9ULK3	Missense_Mutation	SNP	ENST00000376454.3	37	c.181C>T	CCDS31165.1	.	.	.	.	.	.	.	.	.	.	C	27.7	4.857343	0.91433	.	.	ENSG00000120549	ENST00000376456;ENST00000458595;ENST00000376454;ENST00000376452	T;T;T;T	0.63096	-0.02;-0.02;-0.02;-0.02	5.77	5.77	0.91146	.	0.093558	0.39985	N	0.001204	T	0.75384	0.3842	L	0.43923	1.385	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;0.997;1.0;0.999	T	0.76236	-0.3033	10	0.87932	D	0	.	19.9927	0.97374	0.0:1.0:0.0:0.0	.	61;61;61;61	Q5T5P2-7;A6NLF3;Q5T5P2;Q5T5P2-2	.;.;SKT_HUMAN;.	C	61	ENSP00000365639:R61C;ENSP00000392625:R61C;ENSP00000365637:R61C;ENSP00000365635:R61C	ENSP00000365635:R61C	R	+	1	0	KIAA1217	24548671	1.000000	0.71417	0.998000	0.56505	0.873000	0.50193	4.386000	0.59620	2.745000	0.94114	0.655000	0.94253	CGC		0.498	KIAA1217-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047223.2	NM_019590		12	57	0	0	0	0.001368	0	12	57					T	24508665	C	T	24508665	3	4	166	1	0	0	0	0	1	0	0	0	8216	652	23	2	187	2	KIAA1217	10	24508665	Missense_Mutation	SNP	C	TCGA-G9-6365-01A-11D-1786-08		24508665	111026082	27	7987											
OR4X1	390113	broad.mit.edu	37	chr11	48286184	48286184	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cttgctccttggtctatattAggccctgtgtcaccctccct	4	15	7	15	0	2	0	1	0	1	0	4	0	4	0	4	2	1	1	4	2	3	5			TCGA-G9-6365-01A-11D-1786-08	TCGA-G9-6365-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	769e2ac9-a121-4b2a-a0fd-5f755b579811	bab99ce8-a7bc-4637-9322-032ea79b8c23	g.chr11:48286184A>G	ENST00000320048.1	+	1	772	c.772A>G	c.(772-774)Agg>Ggg	p.R258G		NM_001004726.1	NP_001004726.1	Q8NH49	OR4X1_HUMAN	olfactory receptor, family 4, subfamily X, member 1 (gene/pseudogene)	258						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R258G(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(1)	28						GGTCTATATTAGGCCCTGTGT	0.493																																						ENST00000320048.1																			1	Substitution - Missense(1)	p.R258G(1)	prostate(1)	NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(1)	28						c.(772-774)Agg>Ggg		olfactory receptor, family 4, subfamily X, member 1 (gene/pseudogene)							165	153	157					11																	48286184		2201	4298	6499	SO:0001583	missense	390113				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:48286184A>G	AB065544	CCDS31487.1	11p11.2	2013-10-10	2013-10-10		ENSG00000176567	ENSG00000176567		"GPCR / Class A : Olfactory receptors"	14854	protein-coding gene	gene with protein product			"olfactory receptor, family 4, subfamily X, member 1"				Standard	NM_001004726		Approved		uc010rht.2	Q8NH49	OTTHUMG00000165301	ENST00000320048.1:c.772A>G	11.37:g.48286184A>G	ENSP00000321506:p.Arg258Gly						p.R258G	NM_001004726.1	NP_001004726.1	Q8NH49	OR4X1_HUMAN			1	772	+			258					Q6IF74	Missense_Mutation	SNP	ENST00000320048.1	37	c.772A>G	CCDS31487.1	.	.	.	.	.	.	.	.	.	.	A	12.64	1.997212	0.35226	.	.	ENSG00000176567	ENST00000320048	T	0.35973	1.28	4.29	0.192	0.15134	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.59810	0.2221	M	0.88105	2.93	0.21762	N	0.999551	D	0.89917	1.0	D	0.91635	0.999	T	0.45440	-0.9261	9	0.87932	D	0	.	6.1234	0.20165	0.3815:0.4626:0.0:0.1559	.	258	Q8NH49	OR4X1_HUMAN	G	258	ENSP00000321506:R258G	ENSP00000321506:R258G	R	+	1	2	OR4X1	48242760	0.000000	0.05858	1.000000	0.80357	0.295000	0.27426	-0.455000	0.06762	0.244000	0.21351	0.460000	0.39030	AGG		0.493	OR4X1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383373.1	NM_001004726		3	221	0	0	0	0.000248	0	3	221					G	48286184	A	G	48286184	3	3	166	1	0	0	0	0	1	0	0	0	11084	411	15	4	774	4	OR4X1	11	48286184	Missense_Mutation	SNP	A	TCGA-G9-6365-01A-11D-1786-08		48286184	86720332	28	7988											
CLEC1A	51267	broad.mit.edu	37	chr12	10233907	10233907	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gacttcctgcaagctttataTtctggacttgaagagattgc	10	14	9	8	0	1	2	0	1	1	1	2	5	2	3	1	1	3	2	1	1	4	7			TCGA-G9-6365-01A-11D-1786-08	TCGA-G9-6365-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	769e2ac9-a121-4b2a-a0fd-5f755b579811	bab99ce8-a7bc-4637-9322-032ea79b8c23	g.chr12:10233907T>A	ENST00000315330.4	-	3	382	c.320A>T	c.(319-321)aAt>aTt	p.N107I	CLEC1A_ENST00000420265.2_Intron|RN7SKP161_ENST00000411110.1_RNA|CLEC1A_ENST00000457018.2_Missense_Mutation_p.N74I	NM_016511.2	NP_057595.2	Q8NC01	CLC1A_HUMAN	C-type lectin domain family 1, member A	107					cell surface receptor signaling pathway (GO:0007166)|defense response (GO:0006952)	integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)	carbohydrate binding (GO:0030246)|transmembrane signaling receptor activity (GO:0004888)	p.N107I(1)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(9)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)	23						AAGCTTTATATTCTGGACTTG	0.448																																						ENST00000315330.4																			1	Substitution - Missense(1)	p.N107I(1)	prostate(1)	breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(9)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)	23						c.(319-321)aAt>aTt		C-type lectin domain family 1, member A							122	122	122					12																	10233907		2203	4300	6503	SO:0001583	missense	51267				cell surface receptor linked signaling pathway|defense response	integral to plasma membrane|intracellular	sugar binding|transmembrane receptor activity	g.chr12:10233907T>A	AY358587	CCDS8612.1, CCDS73443.1	12p13.31	2005-02-09				ENSG00000150048		"C-type lectin domain containing"	24355	protein-coding gene	gene with protein product		606782				10671229, 11745369	Standard	XM_005253383		Approved	CLEC1, MGC34328	uc001qxb.3	Q8NC01		ENST00000315330.4:c.320A>T	12.37:g.10233907T>A	ENSP00000326407:p.Asn107Ile					CLEC1A_ENST00000457018.2_Missense_Mutation_p.N74I|CLEC1A_ENST00000420265.2_Intron	p.N107I	NM_016511.2	NP_057595.2	Q8NC01	CLC1A_HUMAN			3	382	-			107					Q8IUW7|Q9NZH3	Missense_Mutation	SNP	ENST00000315330.4	37	c.320A>T	CCDS8612.1	.	.	.	.	.	.	.	.	.	.	T	12.41	1.928778	0.34002	.	.	ENSG00000150048	ENST00000315330;ENST00000457018	T;T	0.15952	2.38;2.38	5.24	5.24	0.73138	.	0.352697	0.24256	N	0.040128	T	0.21509	0.0518	L	0.43598	1.365	0.58432	D	0.999993	P;D	0.54397	0.952;0.966	P;P	0.52267	0.694;0.543	T	0.03043	-1.1079	10	0.15066	T	0.55	.	11.5257	0.50578	0.0:0.0:0.0:1.0	.	74;107	E9PFB4;Q8NC01	.;CLC1A_HUMAN	I	107;74	ENSP00000326407:N107I;ENSP00000415048:N74I	ENSP00000326407:N107I	N	-	2	0	CLEC1A	10125174	0.584000	0.26766	0.147000	0.22382	0.074000	0.17049	3.724000	0.54962	1.975000	0.57531	0.460000	0.39030	AAT		0.448	CLEC1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399924.1	NM_016511		5	92	0	0	0	0.000602	0	5	92					A	10233907	T	A	10233907	3	1	166	1	0	0	0	0	1	0	0	0	3505	1493	52	5	538	5	CLEC1A	12	10233907	Missense_Mutation	SNP	T	TCGA-G9-6365-01A-11D-1786-08		10233907	123617988	29	7989											
LRRC43	254050	broad.mit.edu	37	chr12	122669084	122669084	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	agaataagtcgcgctttcttCctcaaacttggcgaacttgg	10	12	9	10	3	2	1	1	0	1	1	4	2	3	1	1	2	2	1	1	2	4	5			TCGA-G9-6365-01A-11D-1786-08	TCGA-G9-6365-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	769e2ac9-a121-4b2a-a0fd-5f755b579811	bab99ce8-a7bc-4637-9322-032ea79b8c23	g.chr12:122669084C>T	ENST00000339777.4	+	2	197	c.169C>T	c.(169-171)Cct>Tct	p.P57S	LRRC43_ENST00000425921.1_5'UTR	NM_152759.4	NP_689972.3	Q8N309	LRC43_HUMAN	leucine rich repeat containing 43	57								p.P57S(1)		NS(1)|endometrium(1)|large_intestine(4)|lung(10)|skin(1)|upper_aerodigestive_tract(2)	19	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000312)|Epithelial(86;0.000539)|BRCA - Breast invasive adenocarcinoma(302;0.225)		GCGCTTTCTTCCTCAAACTTG	0.562																																						ENST00000339777.4																			1	Substitution - Missense(1)	p.P57S(1)	prostate(1)	NS(1)|endometrium(1)|large_intestine(4)|lung(10)|skin(1)|upper_aerodigestive_tract(2)	19						c.(169-171)Cct>Tct		leucine rich repeat containing 43							42	43	42					12																	122669084		1953	4147	6100	SO:0001583	missense	254050							g.chr12:122669084C>T	AK124107	CCDS45001.1	12q24.31	2014-09-11			ENSG00000158113	ENSG00000158113			28562	protein-coding gene	gene with protein product						12477932	Standard	NM_152759		Approved	MGC35140	uc009zxm.3	Q8N309	OTTHUMG00000168915	ENST00000339777.4:c.169C>T	12.37:g.122669084C>T	ENSP00000344233:p.Pro57Ser					LRRC43_ENST00000425921.1_5'UTR	p.P57S	NM_152759.4	NP_689972.3	Q8N309	LRC43_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000312)|Epithelial(86;0.000539)|BRCA - Breast invasive adenocarcinoma(302;0.225)	2	197	+	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		57					Q6ZVT9	Missense_Mutation	SNP	ENST00000339777.4	37	c.169C>T	CCDS45001.1	.	.	.	.	.	.	.	.	.	.	C	13.47	2.248263	0.39697	.	.	ENSG00000158113	ENST00000339777	T	0.55413	0.52	4.94	4.04	0.47022	.	.	.	.	.	T	0.47728	0.1461	L	0.55481	1.735	0.39715	D	0.971389	P	0.40970	0.734	B	0.43478	0.421	T	0.42616	-0.9441	9	0.27785	T	0.31	-8.7263	7.7175	0.28712	0.0:0.7425:0.1669:0.0906	.	57	Q8N309	LRC43_HUMAN	S	57	ENSP00000344233:P57S	ENSP00000344233:P57S	P	+	1	0	LRRC43	121235037	0.003000	0.15002	0.241000	0.24154	0.295000	0.27426	0.484000	0.22308	2.272000	0.75746	0.462000	0.41574	CCT		0.562	LRRC43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401589.1	NM_152759		3	33	0	0	0	0.004672	0	3	33					T	122669084	C	T	122669084	3	4	166	1	0	0	0	0	1	0	0	0	9001	855	30	3	175	3	LRRC43	12	122669084	Missense_Mutation	SNP	C	TCGA-G9-6365-01A-11D-1786-08	112435177	122669084	11182811	30	7990											
PSPC1	55269	broad.mit.edu	37	chr13	20277328	20277328	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgaatgtttaatatctacgaCgcttattagggccttcaaag	12	13	8	8	3	2	0	1	0	1	0	2	2	2	0	1	1	1	2	1	1	7	7			TCGA-G9-6365-01A-11D-1786-08	TCGA-G9-6365-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	769e2ac9-a121-4b2a-a0fd-5f755b579811	bab99ce8-a7bc-4637-9322-032ea79b8c23	g.chr13:20277328C>T	ENST00000338910.4	-	9	1718	c.1559G>A	c.(1558-1560)cGt>cAt	p.R520H		NM_001042414.2	NP_001035879.1	Q8WXF1	PSPC1_HUMAN	paraspeckle component 1	520					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of circadian rhythm (GO:0042752)|rhythmic process (GO:0048511)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|paraspeckles (GO:0042382)	core promoter binding (GO:0001047)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.R520H(1)		breast(1)|endometrium(1)|large_intestine(4)|lung(10)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23		all_cancers(29;1.25e-22)|all_lung(29;1.97e-20)|all_epithelial(30;2.29e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;4.63e-06)|Epithelial(112;2.29e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00256)|Lung(94;0.00975)|LUSC - Lung squamous cell carcinoma(192;0.0483)		ATATCTACGACGCTTATTAGG	0.433																																						ENST00000338910.4																			1	Substitution - Missense(1)	p.R520H(1)	prostate(1)	breast(1)|endometrium(1)|large_intestine(4)|lung(10)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23						c.(1558-1560)cGt>cAt		paraspeckle component 1							46	50	49					13																	20277328		1840	4088	5928	SO:0001583	missense	55269				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nuclear matrix|nucleolus	nucleotide binding|protein binding|RNA binding	g.chr13:20277328C>T	AK001817	CCDS41870.1	13q11	2013-02-12			ENSG00000121390	ENSG00000121390		"RNA binding motif (RRM) containing"	20320	protein-coding gene	gene with protein product		612408				11790299	Standard	NM_001042414		Approved	PSP1, FLJ10955	uc021rgx.1	Q8WXF1	OTTHUMG00000016502	ENST00000338910.4:c.1559G>A	13.37:g.20277328C>T	ENSP00000343966:p.Arg520His						p.R520H	NM_001042414.2	NP_001035879.1	Q8WXF1	PSPC1_HUMAN		all cancers(112;4.63e-06)|Epithelial(112;2.29e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00256)|Lung(94;0.00975)|LUSC - Lung squamous cell carcinoma(192;0.0483)	9	1718	-		all_cancers(29;1.25e-22)|all_lung(29;1.97e-20)|all_epithelial(30;2.29e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)	520					Q5JTQ3|Q8NCZ9|Q8WXE8|Q9NV36	Missense_Mutation	SNP	ENST00000338910.4	37	c.1559G>A	CCDS41870.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.046708	0.75846	.	.	ENSG00000121390	ENST00000338910;ENST00000422828	T	0.22743	1.94	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	T	0.34919	0.0914	N	0.24115	0.695	0.53005	D	0.999964	D	0.71674	0.998	D	0.69479	0.964	T	0.15723	-1.0427	10	0.87932	D	0	-5.0547	19.572	0.95425	0.0:1.0:0.0:0.0	.	520	Q8WXF1	PSPC1_HUMAN	H	520;460	ENSP00000343966:R520H	ENSP00000343966:R520H	R	-	2	0	PSPC1	19175328	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	5.912000	0.69948	2.631000	0.89168	0.484000	0.47621	CGT		0.433	PSPC1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044037.2			7	81	0	0	0	0.006214	0	7	81					T	20277328	C	T	20277328	3	4	166	1	0	0	0	0	1	0	0	0	12716	536	19	1	16	1	PSPC1	13	20277328	Missense_Mutation	SNP	C	TCGA-G9-6365-01A-11D-1786-08		20277328	94892550	31	7991											
CHMP4A	29082	broad.mit.edu	37	chr14	24682652	24682652	+	5'UTR	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccgagaccactcatcgcgagCtcgcctctcccgcctccgcc	5	6	8	22	6	2	1	1	0	1	1	6	3	3	1	7	0	1	1	7	0	0	0			TCGA-G9-6365-01A-11D-1786-08	TCGA-G9-6365-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	769e2ac9-a121-4b2a-a0fd-5f755b579811	bab99ce8-a7bc-4637-9322-032ea79b8c23	g.chr14:24682652C>G	ENST00000609024.1	-	0	42				CHMP4A_ENST00000347519.6_Missense_Mutation_p.E41D|MDP1_ENST00000532557.1_5'Flank|AL136419.6_ENST00000565988.1_RNA|TM9SF1_ENST00000556387.1_5'UTR|CHMP4A_ENST00000542700.2_5'Flank|TM9SF1_ENST00000530611.1_5'UTR|NEDD8-MDP1_ENST00000604306.1_5'Flank|CHMP4A_ENST00000530996.1_5'UTR			Q9BY43	CHM4A_HUMAN	charged multivesicular body protein 4A						endosomal transport (GO:0016197)|membrane budding (GO:0006900)|membrane organization (GO:0061024)|membrane tubulation (GO:0097320)|negative regulation of autophagic vacuole assembly (GO:1902902)|negative regulation of neuron death (GO:1901215)|posttranslational protein targeting to membrane (GO:0006620)|protein homooligomerization (GO:0051260)|viral life cycle (GO:0019058)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|ESCRT III complex (GO:0000815)|extracellular vesicular exosome (GO:0070062)|midbody (GO:0030496)|nucleus (GO:0005634)	ATPase binding (GO:0051117)|identical protein binding (GO:0042802)|lipid binding (GO:0008289)|protein homodimerization activity (GO:0042803)	p.E41D(1)		NS(1)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)	9				GBM - Glioblastoma multiforme(265;0.0181)		TCATCGCGAGCTCGCCTCTCC	0.672																																						ENST00000347519.6																			1	Substitution - Missense(1)	p.E41D(1)	prostate(1)	NS(1)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)	9						c.(121-123)gaG>gaC		charged multivesicular body protein 4A							44	42	43					14																	24682652		2203	4300	6503	SO:0001623	5_prime_UTR_variant	29082							g.chr14:24682652C>G	AF212243	CCDS9619.1	14q12	2012-10-04	2011-09-21	2005-04-04	ENSG00000254505	ENSG00000254505		"Charged multivesicular body proteins"	20274	protein-coding gene	gene with protein product		610051	"chromosome 14 open reading frame 123", "chromatin modifying protein 4A"	C14orf123			Standard	NM_014169		Approved	HSPC134, VPS32A		Q9BY43	OTTHUMG00000167036	ENST00000609024.1:c.-7G>C	14.37:g.24682652C>G						TM9SF1_ENST00000556387.1_5'UTR|TM9SF1_ENST00000530611.1_5'UTR|AL136419.6_ENST00000565988.1_RNA	p.E41D	NM_014169.3	NP_054888.2				GBM - Glioblastoma multiforme(265;0.0181)	1	423	-								Q14D22|Q32Q79|Q86SZ8|Q96QJ9|Q9P026	Missense_Mutation	SNP	ENST00000609024.1	37	c.123G>C		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.90|12.90	2.075884|2.075884	0.36662|0.36662	.|.	.|.	ENSG00000254505|ENSG00000254505	ENST00000548308|ENST00000347519	.|T	.|0.58797	.|0.31	5.08|5.08	2.21|2.21	0.28008|0.28008	.|.	.|.	.|.	.|.	.|.	T|T	0.30479|0.30479	0.0766|0.0766	N|N	0.08118|0.08118	0|0	0.09310|0.09310	N|N	1|1	.|B	.|0.02656	.|0.0	.|B	.|0.01281	.|0.0	T|T	0.21042|0.21042	-1.0257|-1.0257	5|9	.|0.13853	.|T	.|0.58	0.3283|0.3283	5.4231|5.4231	0.16411|0.16411	0.0:0.6543:0.1642:0.1815|0.0:0.6543:0.1642:0.1815	.|.	.|41	.|Q14D22	.|.	P|D	18|41	.|ENSP00000324205:E41D	.|ENSP00000324205:E41D	A|E	-|-	1|3	0|2	AL096870.1|AL096870.1	23752492|23752492	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.259000|0.259000	0.26198|0.26198	0.882000|0.882000	0.28186|0.28186	0.291000|0.291000	0.22468|0.22468	0.609000|0.609000	0.83330|0.83330	GCT|GAG		0.672	CHMP4A-012	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000471846.1	NM_014169		6	50	0	0	0	0.001168	0	6	50					G	24682652	C	G	24682652	1	3	166	0	1	0	0	0	0	0	0	0	3356	796	28	5		5	CHMP4A	14	24682652	5'UTR	SNP	C	TCGA-G9-6365-01A-11D-1786-08		24682652	82666888	32	7992											
BTBD12	84464	broad.mit.edu	37	chr16	3658496	3658496	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tacccgtctgggtgttttgtGctgtttcccggagcacaggt	4	14	13	10	2	1	0	0	0	1	0	2	1	2	1	2	3	3	4	2	3	1	4			TCGA-G9-6365-01A-11D-1786-08	TCGA-G9-6365-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	769e2ac9-a121-4b2a-a0fd-5f755b579811	bab99ce8-a7bc-4637-9322-032ea79b8c23	g.chr16:3658496G>A	ENST00000294008.3	-	2	1110	c.470C>T	c.(469-471)gCa>gTa	p.A157V		NM_032444.2	NP_115820.2	Q8IY92	SLX4_HUMAN	SLX4 structure-specific endonuclease subunit	157	Interaction with SLX4IP, ERCC4 and MSH2.				DNA catabolic process, endonucleolytic (GO:0000737)|DNA double-strand break processing involved in repair via single-strand annealing (GO:0010792)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|double-strand break repair via homologous recombination (GO:0000724)|nucleotide-excision repair (GO:0006289)|positive regulation of catalytic activity (GO:0043085)|response to intra-S DNA damage checkpoint signaling (GO:0072429)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|Slx1-Slx4 complex (GO:0033557)	5'-flap endonuclease activity (GO:0017108)|enzyme activator activity (GO:0008047)	p.A157V(1)		breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	76						GGTGTTTTGTGCTGTTTCCCG	0.522								Direct reversal of damage																														ENST00000294008.3																			1	Substitution - Missense(1)	p.A157V(1)	prostate(1)	breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	76						c.(469-471)gCa>gTa	Direct reversal of damage	SLX4 structure-specific endonuclease subunit							115	115	115					16																	3658496		2197	4300	6497	SO:0001583	missense	84464				DNA double-strand break processing involved in repair via single-strand annealing|double-strand break repair via homologous recombination|nucleotide-excision repair	Slx1-Slx4 complex	enzyme activator activity|protein binding	g.chr16:3658496G>A	AB058687	CCDS10506.2	16p13.3	2014-09-17	2013-06-05	2010-09-13	ENSG00000188827	ENSG00000188827		"Fanconi anemia, complementation groups", "BTB/POZ domain containing"	23845	protein-coding gene	gene with protein product	"Fanconi anemia, complementation group P"	613278	"BTB (POZ) domain containing 12", "SLX4 structure-specific endonuclease subunit homolog (S. cerevisiae)"	BTBD12		11347906, 19595721	Standard	NM_032444		Approved	KIAA1784, KIAA1987, FANCP	uc002cvp.2	Q8IY92	OTTHUMG00000074089	ENST00000294008.3:c.470C>T	16.37:g.3658496G>A	ENSP00000294008:p.Ala157Val						p.A157V	NM_032444.2	NP_115820.2	Q8IY92	SLX4_HUMAN			2	1110	-			157			Interaction with C20orf94, ERCC4 and MSH2.		Q69YT8|Q8TF15|Q96JP1	Missense_Mutation	SNP	ENST00000294008.3	37	c.470C>T	CCDS10506.2	.	.	.	.	.	.	.	.	.	.	G	18.05	3.536400	0.65085	.	.	ENSG00000188827	ENST00000294008	T	0.01369	4.97	4.94	-0.0417	0.13866	.	0.978779	0.08330	N	0.962511	T	0.01061	0.0035	N	0.22421	0.69	0.09310	N	1	B	0.20550	0.046	B	0.15870	0.014	T	0.49312	-0.8953	10	0.17832	T	0.49	.	3.2878	0.06937	0.295:0.0:0.482:0.223	.	157	Q8IY92	SLX4_HUMAN	V	157	ENSP00000294008:A157V	ENSP00000294008:A157V	A	-	2	0	SLX4	3598497	0.000000	0.05858	0.000000	0.03702	0.891000	0.51852	-0.231000	0.09069	0.232000	0.21100	0.650000	0.86243	GCA		0.522	SLX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157301.3	NM_032444		6	142	0	0	0	0.001984	0	6	142					A	3658496	G	A	3658496	3	1	166	1	0	0	0	0	1	0	0	0	1540	1319	46	3	5090	3	BTBD12	16	3658496	Missense_Mutation	SNP	G	TCGA-G9-6365-01A-11D-1786-08		3658496	86696257	33	7993											
CDH1	999	broad.mit.edu	37	chr16	68846165	68846165	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccgatcttcaatcccaccaCggtaattctataactcctta	11	13	3	14	2	3	0	1	0	2	0	6	1	6	0	4	1	1	1	4	1	5	6	rs587782856		TCGA-G9-6365-01A-11D-1786-08	TCGA-G9-6365-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	769e2ac9-a121-4b2a-a0fd-5f755b579811	bab99ce8-a7bc-4637-9322-032ea79b8c23	g.chr16:68846165C>T	ENST00000261769.5	+	8	1327	c.1136C>T	c.(1135-1137)aCg>aTg	p.T379M	CDH1_ENST00000422392.2_Splice_Site_p.T379M|RP11-354M1.2_ENST00000563916.1_RNA|CDH1_ENST00000562836.1_3'UTR	NM_004360.3	NP_004351.1	P12830	CADH1_HUMAN	cadherin 1, type 1, E-cadherin (epithelial)	379	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|apoptotic process (GO:0006915)|calcium-dependent cell-cell adhesion (GO:0016339)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to amino acid stimulus (GO:0071230)|cellular response to indole-3-methanol (GO:0071681)|cellular response to lithium ion (GO:0071285)|cochlea development (GO:0090102)|epithelial cell morphogenesis (GO:0003382)|establishment of protein localization to plasma membrane (GO:0090002)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|homophilic cell adhesion (GO:0007156)|intestinal epithelial cell development (GO:0060576)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of epithelial cell proliferation (GO:0050680)|neuron projection development (GO:0031175)|pituitary gland development (GO:0021983)|positive regulation of transcription factor import into nucleus (GO:0042993)|positive regulation of transcription, DNA-templated (GO:0045893)|protein homooligomerization (GO:0051260)|protein localization to plasma membrane (GO:0072659)|protein metabolic process (GO:0019538)|regulation of branching involved in salivary gland morphogenesis (GO:0060693)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of immune response (GO:0050776)|regulation of neuron migration (GO:2001222)|regulation of protein localization to cell surface (GO:2000008)|regulation of water loss via skin (GO:0033561)|response to drug (GO:0042493)|response to toxic substance (GO:0009636)|salivary gland cavitation (GO:0060662)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|synapse assembly (GO:0007416)|tight junction assembly (GO:0070830)|trophectodermal cell differentiation (GO:0001829)	actin cytoskeleton (GO:0015629)|aggresome (GO:0016235)|apical junction complex (GO:0043296)|apical part of cell (GO:0045177)|axon terminus (GO:0043679)|basolateral plasma membrane (GO:0016323)|catenin complex (GO:0016342)|cell junction (GO:0030054)|cell surface (GO:0009986)|cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|endosome (GO:0005768)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|lateral loop (GO:0043219)|lateral plasma membrane (GO:0016328)|node of Ranvier (GO:0033268)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|Schmidt-Lanterman incisure (GO:0043220)|trans-Golgi network (GO:0005802)	ankyrin binding (GO:0030506)|beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)|cell adhesion molecule binding (GO:0050839)|gamma-catenin binding (GO:0045295)|glycoprotein binding (GO:0001948)|GTPase activating protein binding (GO:0032794)	p.T379M(2)|p.S337_T379del(1)|p.?(1)		NS(6)|biliary_tract(8)|breast(161)|central_nervous_system(4)|endometrium(9)|kidney(4)|large_intestine(13)|lung(13)|oesophagus(3)|ovary(2)|prostate(3)|soft_tissue(2)|stomach(76)|thyroid(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	311		all_neural(199;0.0189)|Ovarian(137;0.0563)		Epithelial(162;8.44e-05)|all cancers(182;0.000404)|OV - Ovarian serous cystadenocarcinoma(108;0.000426)|BRCA - Breast invasive adenocarcinoma(181;0.0261)		AATCCCACCACGGTAATTCTA	0.453			"Mis, N, F, S"		"lobular breast, gastric"	gastric			Hereditary Diffuse Gastric Cancer																													ENST00000261769.5			yes	Rec	yes	Familial gastric carcinoma	16	16q22.1	999	"Mis, N, F, S"	"cadherin 1, type 1, E-cadherin (epithelial) (ECAD)"			E		gastric	"lobular breast, gastric"		4	Substitution - Missense(2)|Unknown(1)|Deletion - In frame(1)	p.T379M(2)|p.S337_T379del(1)|p.?(1)	prostate(2)|stomach(1)|breast(1)	NS(6)|biliary_tract(8)|breast(161)|central_nervous_system(4)|endometrium(9)|kidney(4)|large_intestine(13)|lung(13)|oesophagus(3)|ovary(2)|prostate(3)|soft_tissue(2)|stomach(76)|thyroid(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	311						c.e8+1		cadherin 1, type 1, E-cadherin (epithelial)							109	91	97					16																	68846165		2198	4300	6498	SO:0001630	splice_region_variant	999	Hereditary Diffuse Gastric Cancer	Familial Cancer Database	HDGC	adherens junction organization|cellular component disassembly involved in apoptosis|cellular response to indole-3-methanol|cellular response to lithium ion|homophilic cell adhesion|negative regulation of cell-cell adhesion|positive regulation of transcription factor import into nucleus|positive regulation of transcription, DNA-dependent|regulation of immune response	actin cytoskeleton|aggresome|apical junction complex|catenin complex|cell-cell adherens junction|endosome|focal adhesion|Golgi apparatus|integral to membrane|internal side of plasma membrane|lateral plasma membrane|perinuclear region of cytoplasm	cell adhesion molecule binding|gamma-catenin binding	g.chr16:68846165C>T	L08599	CCDS10869.1	16q22.1	2014-09-17			ENSG00000039068	ENSG00000039068		"CD molecules", "Cadherins / Major cadherins"	1748	protein-coding gene	gene with protein product	"E-Cadherin"	192090		UVO		9925936	Standard	NM_004360		Approved	uvomorulin, CD324	uc002ewg.1	P12830	OTTHUMG00000137561	ENST00000261769.5:c.1137+1C>T	16.37:g.68846165C>T						CDH1_ENST00000422392.2_Splice_Site_p.T379_splice|CDH1_ENST00000562836.1_3'UTR	p.T379_splice	NM_004360.3	NP_004351.1	P12830	CADH1_HUMAN		Epithelial(162;8.44e-05)|all cancers(182;0.000404)|OV - Ovarian serous cystadenocarcinoma(108;0.000426)|BRCA - Breast invasive adenocarcinoma(181;0.0261)	8	1327	+		all_neural(199;0.0189)|Ovarian(137;0.0563)	379			Cadherin 3.		A8K1U7|Q13799|Q14216|Q15855|Q16194|Q4PJ14|Q9UII8	Splice_Site	SNP	ENST00000261769.5	37	c.1137_splice	CCDS10869.1	.	.	.	.	.	.	.	.	.	.	C	4.680	0.126343	0.08931	.	.	ENSG00000039068	ENST00000261769;ENST00000379120;ENST00000268794;ENST00000422392	T;T	0.61510	0.1;0.47	5.72	-4.73	0.03259	Cadherin (3);Cadherin-like (1);	0.860656	0.10032	N	0.724544	T	0.42607	0.1210	L	0.52011	1.625	0.09310	N	1	B;B	0.30033	0.266;0.031	B;B	0.20955	0.032;0.024	T	0.28933	-1.0028	10	0.51188	T	0.08	.	7.3914	0.26911	0.1951:0.2388:0.0:0.5661	.	379;379	Q9UII8;P12830	.;CADH1_HUMAN	M	379	ENSP00000261769:T379M;ENSP00000414946:T379M	ENSP00000261769:T379M	T	+	2	0	CDH1	67403666	0.000000	0.05858	0.003000	0.11579	0.004000	0.04260	-1.046000	0.03525	-0.810000	0.04375	-1.130000	0.01982	ACG		0.453	CDH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268897.2	NM_004360	Missense_Mutation	6	65	0	0	0	0.001984	0	6	65					T	68846165	C	T	68846165	5	4	166	1	0	0	0	0	0	0	1	0	3095	550	19	1	1166	1	CDH1	16	68846165	Splice_Site	SNP	C	TCGA-G9-6365-01A-11D-1786-08	65187669	68846165	21508588	34	7994											
VAC14	55697	broad.mit.edu	37	chr16	70818709	70818709	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cggtctaggagctcagatccGcttttcacattggggtctgg	6	12	13	10	2	4	1	2	0	2	1	5	2	5	2	1	5	1	2	1	5	1	4			TCGA-G9-6365-01A-11D-1786-08	TCGA-G9-6365-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	769e2ac9-a121-4b2a-a0fd-5f755b579811	bab99ce8-a7bc-4637-9322-032ea79b8c23	g.chr16:70818709G>A	ENST00000261776.5	-	4	716	c.456C>T	c.(454-456)agC>agT	p.S152S		NM_018052.3	NP_060522.3	Q08AM6	VAC14_HUMAN	Vac14 homolog (S. cerevisiae)	152					phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|regulation of lipid kinase activity (GO:0043550)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|late endosome membrane (GO:0031902)|PAS complex (GO:0070772)	receptor activity (GO:0004872)	p.S152S(1)		breast(2)|endometrium(2)|kidney(10)|large_intestine(1)|lung(10)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	33		Ovarian(137;0.0699)				GCTCAGATCCGCTTTTCACAT	0.502																																						ENST00000261776.5																			1	Substitution - coding silent(1)	p.S152S(1)	prostate(1)	breast(2)|endometrium(2)|kidney(10)|large_intestine(1)|lung(10)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	33						c.(454-456)agC>agT		Vac14 homolog (S. cerevisiae)							108	116	113					16																	70818709		2198	4300	6498	SO:0001819	synonymous_variant	55697				interspecies interaction between organisms	endoplasmic reticulum|endosome membrane|microsome	protein binding|receptor activity	g.chr16:70818709G>A	AK056433	CCDS10896.1	16q22.1	2010-03-23	2005-02-09		ENSG00000103043	ENSG00000103043			25507	protein-coding gene	gene with protein product		604632	"Tax1 (human T-cell leukemia virus type I) binding protein 2"	TAX1BP2		15542851, 12719380	Standard	NM_018052		Approved	FLJ10305, ArPIKfyve	uc002ezm.3	Q08AM6	OTTHUMG00000137583	ENST00000261776.5:c.456C>T	16.37:g.70818709G>A							p.S152S	NM_018052.3	NP_060522.3	Q08AM6	VAC14_HUMAN			4	716	-		Ovarian(137;0.0699)	152					B3KPJ5|B3KSM8|Q13174|Q6IA12|Q7L4Y1|Q9BW96|Q9H6V6	Silent	SNP	ENST00000261776.5	37	c.456C>T	CCDS10896.1																																																																																				0.502	VAC14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268973.3	NM_018052		8	165	0	0	0	0.004482	0	8	165					A	70818709	G	A	70818709	2	1	166	1	0	0	0	0	0	0	0	1	17108	1078	38	1		1	VAC14	16	70818709	Silent	SNP	G	TCGA-G9-6365-01A-11D-1786-08	1972544	70818709	19536044	35	7995											
SERPINF1	5176	broad.mit.edu	37	chr17	1679918	1679918	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	accttgatagaggagagcctCacctccgagttcattcatga	11	10	9	11	1	3	4	3	2	0	2	4	6	4	4	4	1	1	1	4	1	1	4			TCGA-G9-6365-01A-11D-1786-08	TCGA-G9-6365-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	769e2ac9-a121-4b2a-a0fd-5f755b579811	bab99ce8-a7bc-4637-9322-032ea79b8c23	g.chr17:1679918C>T	ENST00000254722.4	+	7	1042	c.879C>T	c.(877-879)ctC>ctT	p.L293L		NM_002615.5	NP_002606.3	P36955	PEDF_HUMAN	serpin peptidase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 1	293					aging (GO:0007568)|cell proliferation (GO:0008283)|kidney development (GO:0001822)|multicellular organismal development (GO:0007275)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|negative regulation of inflammatory response (GO:0050728)|positive regulation of neurogenesis (GO:0050769)|regulation of proteolysis (GO:0030162)|response to glucocorticoid (GO:0051384)|response to retinoic acid (GO:0032526)|short-term memory (GO:0007614)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.L293L(1)		autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(2)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	16						AGGAGAGCCTCACCTCCGAGT	0.522																																						ENST00000254722.4																			1	Substitution - coding silent(1)	p.L293L(1)	prostate(1)	autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(2)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	16						c.(877-879)ctC>ctT		serpin peptidase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 1							143	132	136					17																	1679918		2203	4300	6503	SO:0001819	synonymous_variant	5176				cell proliferation|negative regulation of angiogenesis|positive regulation of neurogenesis|regulation of proteolysis	extracellular space|melanosome	serine-type endopeptidase inhibitor activity	g.chr17:1679918C>T	M76979	CCDS11012.1	17p13.3	2014-02-18	2005-08-18		ENSG00000132386	ENSG00000132386		"Serine (or cysteine) peptidase inhibitors"	8824	protein-coding gene	gene with protein product	"pigment epithelium-derived factor", "proliferation-inducing protein 35"	172860	"serine (or cysteine) proteinase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 1"	PEDF		8434014, 24172014	Standard	NM_002615		Approved	EPC-1, PIG35	uc002ftl.3	P36955	OTTHUMG00000090571	ENST00000254722.4:c.879C>T	17.37:g.1679918C>T							p.L293L	NM_002615.5	NP_002606.3	P36955	PEDF_HUMAN			7	1042	+			293					F1T092|Q13236|Q2TU83|Q96CT1|Q96R01|Q9BWA4	Silent	SNP	ENST00000254722.4	37	c.879C>T	CCDS11012.1																																																																																				0.522	SERPINF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207109.4	NM_002615		5	166	0	0	0	0.000602	0	5	166					T	1679918	C	T	1679918	2	4	166	1	0	0	0	0	0	0	0	1	14114	813	29	3		3	SERPINF1	17	1679918	Silent	SNP	C	TCGA-G9-6365-01A-11D-1786-08		1679918	79515292	36	7996											
TAOK1	57551	broad.mit.edu	37	chr17	27844648	27844648	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gaatgttacttgggcgtcatAacttagagcaggaccttgtc	10	12	11	8	1	1	1	1	0	0	1	2	3	1	2	1	2	3	2	1	2	4	5			TCGA-G9-6365-01A-11D-1786-08	TCGA-G9-6365-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	769e2ac9-a121-4b2a-a0fd-5f755b579811	bab99ce8-a7bc-4637-9322-032ea79b8c23	g.chr17:27844648A>C	ENST00000261716.3	+	16	2401	c.1882A>C	c.(1882-1884)Aac>Cac	p.N628H	TAOK1_ENST00000536202.1_Intron	NM_020791.2	NP_065842.1	Q7L7X3	TAOK1_HUMAN	TAO kinase 1	628					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|execution phase of apoptosis (GO:0097194)|G2 DNA damage checkpoint (GO:0031572)|mitotic cell cycle (GO:0000278)|positive regulation of JNK cascade (GO:0046330)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein phosphorylation (GO:0006468)|regulation of cytoskeleton organization (GO:0051493)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transferase activity (GO:0016740)	p.N628H(2)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	28			Colorectal(6;0.198)			TGGGCGTCATAACTTAGAGCA	0.393																																						ENST00000261716.3																			2	Substitution - Missense(2)	p.N628H(2)	prostate(2)	NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	28						c.(1882-1884)Aac>Cac		TAO kinase 1							114	119	117					17																	27844648		2203	4300	6503	SO:0001583	missense	57551				mitotic prometaphase	cytosol|intracellular membrane-bounded organelle	ATP binding|protein serine/threonine kinase activity	g.chr17:27844648A>C	AB037782	CCDS32601.1, CCDS56024.1	17q11.2	2014-01-28				ENSG00000160551			29259	protein-coding gene	gene with protein product		610266				10718198, 14517247	Standard	NM_020791		Approved	KIAA1361, MARKK, PSK2, MAP3K16, FLJ14314, TAO1	uc002hdz.2	Q7L7X3		ENST00000261716.3:c.1882A>C	17.37:g.27844648A>C	ENSP00000261716:p.Asn628His					TAOK1_ENST00000536202.1_Intron	p.N628H	NM_020791.2	NP_065842.1	Q7L7X3	TAOK1_HUMAN	Colorectal(6;0.198)		16	2401	+			628					A2RUT8|B7ZLV6|Q96L75|Q9H2K7|Q9H7S5|Q9P2I6	Missense_Mutation	SNP	ENST00000261716.3	37	c.1882A>C	CCDS32601.1	.	.	.	.	.	.	.	.	.	.	A	27.3	4.817879	0.90790	.	.	ENSG00000160551	ENST00000261716	T	0.42900	0.96	5.93	5.93	0.95920	Protein kinase-like domain (1);	0.042434	0.85682	D	0.000000	T	0.59998	0.2235	M	0.74881	2.28	0.80722	D	1	P	0.42248	0.774	P	0.52909	0.713	T	0.61088	-0.7133	10	0.52906	T	0.07	.	16.3943	0.83563	1.0:0.0:0.0:0.0	.	628	Q7L7X3	TAOK1_HUMAN	H	628	ENSP00000261716:N628H	ENSP00000261716:N628H	N	+	1	0	TAOK1	24868774	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.512000	0.81728	2.281000	0.76405	0.533000	0.62120	AAC		0.393	TAOK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447790.1	NM_020791		28	97	0	0	0	0.001786	0	28	97					C	27844648	A	C	27844648	3	2	166	1	0	0	0	0	1	0	0	0	15544	362	13	5	1940	5	TAOK1	17	27844648	Missense_Mutation	SNP	A	TCGA-G9-6365-01A-11D-1786-08	26164730	27844648	53350562	37	7997											
UNC45B	146862	broad.mit.edu	37	chr17	33504058	33504058	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgattcccctggctttggAgggcacagatgtgggcaagg	7	9	15	10	0	0	2	0	1	0	1	1	3	1	3	3	5	0	3	3	5	1	2			TCGA-G9-6365-01A-11D-1786-08	TCGA-G9-6365-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	769e2ac9-a121-4b2a-a0fd-5f755b579811	bab99ce8-a7bc-4637-9322-032ea79b8c23	g.chr17:33504058A>G	ENST00000268876.5	+	16	2151	c.2054A>G	c.(2053-2055)gAg>gGg	p.E685G	UNC45B_ENST00000394570.2_Missense_Mutation_p.E683G|UNC45B_ENST00000378449.1_Missense_Mutation_p.E604G|UNC45B_ENST00000591048.1_Missense_Mutation_p.E604G|UNC45B_ENST00000433649.1_Missense_Mutation_p.E683G	NM_173167.2	NP_775259.1	Q8IWX7	UN45B_HUMAN	unc-45 homolog B (C. elegans)	685					cell differentiation (GO:0030154)|chaperone-mediated protein folding (GO:0061077)|muscle organ development (GO:0007517)	cytoplasm (GO:0005737)|cytosol (GO:0005829)		p.E685G(1)		breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(10)|lung(24)|ovary(3)|prostate(2)|skin(1)|stomach(1)|urinary_tract(3)	59		Ovarian(249;0.17)				CTGGCTTTGGAGGGCACAGAT	0.572																																						ENST00000268876.5																			1	Substitution - Missense(1)	p.E685G(1)	prostate(1)	breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(10)|lung(24)|ovary(3)|prostate(2)|skin(1)|stomach(1)|urinary_tract(3)	59						c.(2053-2055)gAg>gGg		unc-45 homolog B (C. elegans)							139	112	121					17																	33504058		2203	4300	6503	SO:0001583	missense	146862				cell differentiation|muscle organ development	cytosol	binding	g.chr17:33504058A>G	AW755253	CCDS11292.1, CCDS45648.1	17q12	2008-02-05	2005-11-17	2005-11-17	ENSG00000141161	ENSG00000141161			14304	protein-coding gene	gene with protein product		611220	"cardiomyopathy associated 4"	CMYA4		12356907	Standard	NM_001267052		Approved	UNC45	uc002hja.3	Q8IWX7	OTTHUMG00000132931	ENST00000268876.5:c.2054A>G	17.37:g.33504058A>G	ENSP00000268876:p.Glu685Gly					UNC45B_ENST00000433649.1_Missense_Mutation_p.E683G|UNC45B_ENST00000394570.2_Missense_Mutation_p.E683G|UNC45B_ENST00000591048.1_Missense_Mutation_p.E604G|UNC45B_ENST00000378449.1_Missense_Mutation_p.E604G	p.E685G	NM_173167.2	NP_775259.1	Q8IWX7	UN45B_HUMAN			16	2151	+		Ovarian(249;0.17)	685					Q495Q8|Q495Q9	Missense_Mutation	SNP	ENST00000268876.5	37	c.2054A>G	CCDS11292.1	.	.	.	.	.	.	.	.	.	.	A	31	5.077960	0.94000	.	.	ENSG00000141161	ENST00000394570;ENST00000268876;ENST00000433649;ENST00000378449	T;T;T	0.51325	0.71;3.06;0.71	5.08	5.08	0.68730	Armadillo-like helical (1);Armadillo-type fold (1);	0.113820	0.64402	D	0.000009	T	0.70254	0.3203	M	0.83603	2.65	0.80722	D	1	D;P;D	0.76494	0.999;0.953;0.97	D;P;P	0.78314	0.991;0.628;0.662	T	0.74917	-0.3501	10	0.62326	D	0.03	-47.432	14.4831	0.67597	1.0:0.0:0.0:0.0	.	604;683;685	Q8IWX7-2;Q8IWX7-3;Q8IWX7	.;.;UN45B_HUMAN	G	685;685;683;604	ENSP00000268876:E685G;ENSP00000412840:E683G;ENSP00000367710:E604G	ENSP00000268876:E685G	E	+	2	0	UNC45B	30528171	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.270000	0.78493	2.270000	0.75569	0.460000	0.39030	GAG		0.572	UNC45B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256458.2	NM_173167		3	133	0	0	0	0.000602	0	3	133					G	33504058	A	G	33504058	3	3	166	1	0	0	0	0	1	0	0	0	16986	304	11	4	2112	4	UNC45B	17	33504058	Missense_Mutation	SNP	A	TCGA-G9-6365-01A-11D-1786-08	5659410	33504058	47691152	38	7998											
TBCD	6904	broad.mit.edu	37	chr17	80726352	80726352	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tccgtgacctgcctgatcccTtttgatttttctcgccttga	4	17	7	13	2	1	4	0	4	1	0	4	4	3	4	5	0	1	0	5	0	0	5			TCGA-G9-6365-01A-11D-1786-08	TCGA-G9-6365-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	769e2ac9-a121-4b2a-a0fd-5f755b579811	bab99ce8-a7bc-4637-9322-032ea79b8c23	g.chr17:80726352T>C	ENST00000355528.4	+	5	622	c.492T>C	c.(490-492)ccT>ccC	p.P164P	TBCD_ENST00000539345.2_Silent_p.P164P|TBCD_ENST00000397466.2_5'UTR	NM_005993.4	NP_005984.3	Q9BTW9	TBCD_HUMAN	tubulin folding cofactor D	164					'de novo' posttranslational protein folding (GO:0051084)|adherens junction assembly (GO:0034333)|cellular protein metabolic process (GO:0044267)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of microtubule polymerization (GO:0031115)|positive regulation of GTPase activity (GO:0043547)|post-chaperonin tubulin folding pathway (GO:0007023)|protein folding (GO:0006457)|tight junction assembly (GO:0070830)	adherens junction (GO:0005912)|cytoplasm (GO:0005737)|lateral plasma membrane (GO:0016328)|microtubule (GO:0005874)|tight junction (GO:0005923)	beta-tubulin binding (GO:0048487)|chaperone binding (GO:0051087)|GTPase activator activity (GO:0005096)					Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0266)|all_epithelial(8;0.0696)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.18)			GCCTGATCCCTTTTGATTTTT	0.473																																						ENST00000355528.4																			0											c.(490-492)ccT>ccC		tubulin folding cofactor D							217	222	220					17																	80726352		1965	4153	6118	SO:0001819	synonymous_variant	6904				'de novo' posttranslational protein folding|adherens junction assembly|negative regulation of cell-substrate adhesion|negative regulation of microtubule polymerization|post-chaperonin tubulin folding pathway|tight junction assembly	adherens junction|cytoplasm|lateral plasma membrane|microtubule|tight junction	beta-tubulin binding|chaperone binding|GTPase activator activity	g.chr17:80726352T>C	BC003094	CCDS45818.1	17q25.3	2006-11-21	2006-11-21			ENSG00000141556			11581	protein-coding gene	gene with protein product		604649	"tubulin-specific chaperone d"				Standard	NM_005993		Approved		uc002kfz.3	Q9BTW9		ENST00000355528.4:c.492T>C	17.37:g.80726352T>C						TBCD_ENST00000397466.2_5'UTR|TBCD_ENST00000539345.2_Silent_p.P164P	p.P164P	NM_005993.4	NP_005984.3	Q9BTW9	TBCD_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.18)		5	622	+	Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0266)|all_epithelial(8;0.0696)	164					O95458|Q7L8K1|Q8IXP6|Q8NAX0|Q8WYH4|Q96E74|Q9UF82|Q9UG46|Q9Y2J3	Silent	SNP	ENST00000355528.4	37	c.492T>C	CCDS45818.1																																																																																				0.473	TBCD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439415.1	NM_005993		4	297	0	0	0	0.000248	0	4	297					C	80726352	T	C	80726352	2	2	166	1	0	0	0	0	0	0	0	1	15630	1596	56	4		4	TBCD	17	80726352	Silent	SNP	T	TCGA-G9-6365-01A-11D-1786-08	47222294	80726352	468858	39	7999											
EMR2	30817	broad.mit.edu	37	chr19	14875286	14875286	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agttcaacagcccattggaaAggttcttgctcaggcctctg	9	11	10	11	0	4	0	2	0	2	0	4	1	4	1	2	3	3	3	2	3	2	4			TCGA-G9-6365-01A-11D-1786-08	TCGA-G9-6365-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	769e2ac9-a121-4b2a-a0fd-5f755b579811	bab99ce8-a7bc-4637-9322-032ea79b8c23	g.chr19:14875286A>C	ENST00000315576.3	-	11	1494	c.1043T>G	c.(1042-1044)cTt>cGt	p.L348R	EMR2_ENST00000594294.1_Missense_Mutation_p.L299R|EMR2_ENST00000392965.3_Missense_Mutation_p.L348R|EMR2_ENST00000353876.1_Missense_Mutation_p.L255R|EMR2_ENST00000392964.3_Missense_Mutation_p.L87R|EMR2_ENST00000392967.2_Missense_Mutation_p.L348R|EMR2_ENST00000346057.1_Missense_Mutation_p.L299R|EMR2_ENST00000353005.1_Missense_Mutation_p.L206R|EMR2_ENST00000595839.1_Missense_Mutation_p.L206R|EMR2_ENST00000594076.1_Missense_Mutation_p.L255R|EMR2_ENST00000596991.2_Missense_Mutation_p.L348R|EMR2_ENST00000601345.1_Missense_Mutation_p.L348R	NM_013447.3	NP_038475.2	Q9UHX3	EMR2_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 2	348					cell adhesion (GO:0007155)|cell migration (GO:0016477)|G-protein coupled receptor signaling pathway (GO:0007186)|granulocyte chemotaxis (GO:0071621)|inflammatory response (GO:0006954)|neuropeptide signaling pathway (GO:0007218)	cell projection (GO:0042995)|integral component of membrane (GO:0016021)|leading edge membrane (GO:0031256)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|chondroitin sulfate binding (GO:0035374)|G-protein coupled receptor activity (GO:0004930)	p.L348R(1)		breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	48						CCCATTGGAAAGGTTCTTGCT	0.577																																						ENST00000315576.3																			1	Substitution - Missense(1)	p.L348R(1)	prostate(1)	breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	48						c.(1042-1044)cTt>cGt		egf-like module containing, mucin-like, hormone receptor-like 2							68	63	65					19																	14875286		2203	4299	6502	SO:0001583	missense	30817				cell adhesion|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr19:14875286A>C	AF114491	CCDS32935.1, CCDS59361.1	19p13.1	2014-08-08	2003-11-26			ENSG00000127507		"CD molecules", "-", "GPCR / Class B : Orphans"	3337	protein-coding gene	gene with protein product		606100	"egf-like module containing, mucin-like, hormone receptor-like sequence 2"				Standard	NM_013447		Approved	CD312	uc002mzp.2	Q9UHX3		ENST00000315576.3:c.1043T>G	19.37:g.14875286A>C	ENSP00000319883:p.Leu348Arg					EMR2_ENST00000392965.3_Missense_Mutation_p.L348R|EMR2_ENST00000392964.3_Missense_Mutation_p.L87R|EMR2_ENST00000392967.2_Missense_Mutation_p.L348R|EMR2_ENST00000353005.1_Missense_Mutation_p.L206R|EMR2_ENST00000594076.1_Missense_Mutation_p.L255R|EMR2_ENST00000601345.1_Missense_Mutation_p.L348R|EMR2_ENST00000346057.1_Missense_Mutation_p.L299R|EMR2_ENST00000595839.1_Missense_Mutation_p.L206R|EMR2_ENST00000353876.1_Missense_Mutation_p.L255R|EMR2_ENST00000596991.2_Missense_Mutation_p.L348R|EMR2_ENST00000594294.1_Missense_Mutation_p.L299R	p.L348R	NM_013447.2	NP_038475.2	Q9UHX3	EMR2_HUMAN			11	1494	-			348					B4DQ96|E7ESD7|E9PBR1|E9PEL6|E9PFQ5|E9PG91|Q8NG96|Q9Y4B1	Missense_Mutation	SNP	ENST00000315576.3	37	c.1043T>G	CCDS32935.1	.	.	.	.	.	.	.	.	.	.	A	14.09	2.432922	0.43224	.	.	ENSG00000127507	ENST00000315576;ENST00000392967;ENST00000346057;ENST00000353876;ENST00000353005;ENST00000392965;ENST00000392964;ENST00000392962	T;D;T;T;T;D;T;D	0.85484	-1.46;-1.68;-1.01;-0.2;0.46;-1.99;0.54;-1.97	3.54	3.54	0.40534	.	.	.	.	.	D	0.89086	0.6615	M	0.70275	2.135	0.30363	N	0.783662	P;B;P;D;P;B;B;P	0.55800	0.771;0.147;0.712;0.973;0.534;0.032;0.375;0.903	B;B;P;P;P;B;B;P	0.59825	0.424;0.099;0.534;0.864;0.647;0.04;0.24;0.857	D	0.85061	0.0934	9	0.56958	D	0.05	.	9.0755	0.36519	1.0:0.0:0.0:0.0	.	348;255;348;206;299;348;348;348	E7ESD7;Q9UHX3-4;A0JNV7;Q9UHX3-5;Q9UHX3-3;A8K6W1;Q9UHX3;Q9UHX3-2	.;.;.;.;.;.;EMR2_HUMAN;.	R	348;348;299;255;206;348;87;299	ENSP00000319883:L348R;ENSP00000376694:L348R;ENSP00000263380:L299R;ENSP00000319454:L255R;ENSP00000319838:L206R;ENSP00000376692:L348R;ENSP00000376691:L87R;ENSP00000376689:L299R	ENSP00000319883:L348R	L	-	2	0	EMR2	14736286	0.001000	0.12720	0.007000	0.13788	0.006000	0.05464	0.964000	0.29306	1.568000	0.49683	0.416000	0.27883	CTT		0.577	EMR2-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000466502.2			3	63	0	0	0	0.000248	0	3	63					C	14875286	A	C	14875286	3	2	166	1	0	0	0	0	1	0	0	0	5105	72	3	5	1472	5	EMR2	19	14875286	Missense_Mutation	SNP	A	TCGA-G9-6365-01A-11D-1786-08		14875286	44253697	40	8000											
PSG11	5680	broad.mit.edu	37	chr19	43519267	43519267	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	aggatgctgggatccacttaCcaatgactctgattgtcaag	11	11	10	9	0	2	2	1	2	1	0	3	4	3	4	2	2	2	1	2	2	3	2			TCGA-G9-6365-01A-11D-1786-08	TCGA-G9-6365-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	769e2ac9-a121-4b2a-a0fd-5f755b579811	bab99ce8-a7bc-4637-9322-032ea79b8c23	g.chr19:43519267C>A	ENST00000401740.1	-	4	1068		c.e4+1		PSG11_ENST00000403486.1_Splice_Site|PSG11_ENST00000306322.7_Splice_Site|PSG11_ENST00000320078.7_Splice_Site|PSG11_ENST00000595312.1_5'Flank			Q00887	PSG9_HUMAN	pregnancy specific beta-1-glycoprotein 11						female pregnancy (GO:0007565)	extracellular region (GO:0005576)		p.?(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	26		Prostate(69;0.00682)				GATCCACTTACCAATGACTCT	0.473																																						ENST00000401740.1																			1	Unknown(1)	p.?(1)	prostate(1)	breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	26						c.e4+1		pregnancy specific beta-1-glycoprotein 11							136	130	132					19																	43519267		2199	4298	6497	SO:0001630	splice_region_variant	5680				female pregnancy	extracellular region		g.chr19:43519267C>A	U25988	CCDS12614.2, CCDS12615.2	19q13.2	2013-01-29			ENSG00000243130	ENSG00000243130		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	9516	protein-coding gene	gene with protein product	"pregnancy specific beta-1-glycoprotein 13"	176401		PSG13, PSG14		7794280	Standard	NM_001113410		Approved	MGC22484	uc002ovm.1	Q9UQ72	OTTHUMG00000151546	ENST00000401740.1:c.964+1G>T	19.37:g.43519267C>A						PSG11_ENST00000320078.7_Splice_Site|PSG11_ENST00000403486.1_Splice_Site|PSG11_ENST00000306322.7_Splice_Site				Q9UQ72	PSG11_HUMAN			4	1068	-		Prostate(69;0.00682)						B2R869|Q15227|Q15236|Q15237|Q8WW78|Q9UQ73	Splice_Site	SNP	ENST00000401740.1	37		CCDS12614.2	.	.	.	.	.	.	.	.	.	.	C	4.093	0.015276	0.07959	.	.	ENSG00000243130	ENST00000320078;ENST00000403486;ENST00000306322;ENST00000401740	.	.	.	0.976	0.976	0.19727	.	.	.	.	.	.	.	.	.	.	.	0.21527	N	0.999653	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.2168	0.15346	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PSG11	48211107	0.247000	0.23920	0.014000	0.15608	0.019000	0.09904	0.414000	0.21164	0.453000	0.26858	0.184000	0.17185	.		0.473	PSG11-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323079.1	NM_002785	Intron	12	158	1	0	1.08611e-07	0.000978	1.3935e-07	12	158					A	43519267	C	A	43519267	5	1	166	1	0	0	0	0	0	0	1	0	12654	521	18	5	50	5	PSG11	19	43519267	Splice_Site	SNP	C	TCGA-G9-6365-01A-11D-1786-08	28643981	43519267	15609716	41	8001											
KLK3	354	broad.mit.edu	37	chr19	51361766	51361766	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctccatgttatttccaatgAcgtgtgtgcgcaagttcacc	8	13	8	12	2	1	1	1	1	0	0	3	1	3	1	4	0	1	3	4	0	3	3			TCGA-G9-6365-01A-11D-1786-08	TCGA-G9-6365-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	769e2ac9-a121-4b2a-a0fd-5f755b579811	bab99ce8-a7bc-4637-9322-032ea79b8c23	g.chr19:51361766A>C	ENST00000326003.2	+	4	586	c.545A>C	c.(544-546)gAc>gCc	p.D182A	KLK3_ENST00000360617.3_Missense_Mutation_p.D182A|KLK3_ENST00000595952.1_Missense_Mutation_p.D139A|KLK3_ENST00000593997.1_Missense_Mutation_p.D182A|KLK3_ENST00000597483.1_Missense_Mutation_p.D139A	NM_001030047.1|NM_001030048.1|NM_001648.2	NP_001025218.1|NP_001025219.1|NP_001639.1	P07288	KLK3_HUMAN	kallikrein-related peptidase 3	182	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				cellular protein metabolic process (GO:0044267)|negative regulation of angiogenesis (GO:0016525)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)	p.D182A(2)		breast(1)|cervix(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00763)|GBM - Glioblastoma multiforme(134;0.0144)		ATTTCCAATGACGTGTGTGCG	0.547																																					Colon(185;1767 2023 13025 30120 37630)	ENST00000360617.3																			2	Substitution - Missense(2)	p.D182A(2)	prostate(2)	breast(1)|cervix(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						c.(544-546)gAc>gCc		kallikrein-related peptidase 3							204	177	186					19																	51361766		2203	4300	6503	SO:0001583	missense	354				negative regulation of angiogenesis|proteolysis	extracellular region	serine-type endopeptidase activity	g.chr19:51361766A>C	X14810	CCDS12807.1, CCDS33083.1, CCDS46155.1	19q13.41	2012-10-02	2006-10-27			ENSG00000142515		"Kallikreins"	6364	protein-coding gene	gene with protein product		176820	"kallikrein 3, (prostate specific antigen)"	APS		2456523, 2436946, 16800724, 16800723	Standard	NM_001648		Approved	PSA	uc021uyi.1	P07288		ENST00000326003.2:c.545A>C	19.37:g.51361766A>C	ENSP00000314151:p.Asp182Ala					KLK3_ENST00000597483.1_Missense_Mutation_p.D139A|KLK3_ENST00000593997.1_Missense_Mutation_p.D182A|KLK3_ENST00000595952.1_Missense_Mutation_p.D139A|KLK3_ENST00000326003.2_Missense_Mutation_p.D182A	p.D182A			P07288	KLK3_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00763)|GBM - Glioblastoma multiforme(134;0.0144)	4	545	+		all_neural(266;0.057)	182			Peptidase S1.		C9JXH3|G3V0H4|G3XAE3|Q15096|Q16272|Q86TG8|Q8IXI4	Missense_Mutation	SNP	ENST00000326003.2	37	c.545A>C	CCDS12807.1	.	.	.	.	.	.	.	.	.	.	A	11.74	1.728014	0.30593	.	.	ENSG00000142515	ENST00000326003;ENST00000422986;ENST00000360617;ENST00000326052	D;D	0.88277	-2.36;-2.36	3.11	0.671	0.17929	.	0.885835	0.09357	N	0.813326	T	0.76176	0.3951	N	0.02658	-0.545	0.09310	N	1	P;P;B	0.47910	0.902;0.846;0.371	P;B;B	0.53722	0.733;0.432;0.142	T	0.67039	-0.5771	10	0.06891	T	0.86	.	3.7596	0.08599	0.5619:0.2224:0.0:0.2157	.	141;182;139	Q8NCW4;G3XAE3;G3V0H4	.;.;.	A	182;139;182;141	ENSP00000314151:D182A;ENSP00000353829:D182A	ENSP00000314151:D182A	D	+	2	0	KLK3	56053578	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-0.440000	0.06888	-0.075000	0.12798	0.329000	0.21502	GAC		0.547	KLK3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464067.1	NM_145864		6	175	0	0	0	0.001984	0	6	175					C	51361766	A	C	51361766	3	2	166	1	0	0	0	0	1	0	0	0	8405	275	10	5	563	5	KLK3	19	51361766	Missense_Mutation	SNP	A	TCGA-G9-6365-01A-11D-1786-08	7842499	51361766	7767217	42	8002											
MBOAT7	79143	broad.mit.edu	37	chr19	54692085	54692085	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctcaccagggctgggcctgAatgagggcccaggtcccgag	7	6	15	13	1	1	2	1	2	1	0	3	3	2	2	4	4	0	1	4	4	1	0			TCGA-G9-6365-01A-11D-1786-08	TCGA-G9-6365-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	769e2ac9-a121-4b2a-a0fd-5f755b579811	bab99ce8-a7bc-4637-9322-032ea79b8c23	g.chr19:54692085A>C	ENST00000245615.1	-	3	672	c.192T>G	c.(190-192)atT>atG	p.I64M	MBOAT7_ENST00000338624.6_Missense_Mutation_p.S34A|TSEN34_ENST00000429671.2_5'Flank|TSEN34_ENST00000396383.1_5'Flank|MBOAT7_ENST00000431666.2_Missense_Mutation_p.S34A|MBOAT7_ENST00000474910.1_5'UTR|TSEN34_ENST00000302937.4_5'Flank|MBOAT7_ENST00000391754.1_Missense_Mutation_p.I64M	NM_024298.3	NP_077274.3	Q96N66	MBOA7_HUMAN	membrane bound O-acyltransferase domain containing 7	64					glycerophospholipid biosynthetic process (GO:0046474)|layer formation in cerebral cortex (GO:0021819)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|ventricular system development (GO:0021591)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	lysophospholipid acyltransferase activity (GO:0071617)	p.I64M(1)		endometrium(4)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	10	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					GCTGGGCCTGAATGAGGGCCC	0.607																																					NSCLC(97;826 2151 10470 22540)	ENST00000245615.1																			1	Substitution - Missense(1)	p.I64M(1)	prostate(1)	endometrium(4)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	10						c.(190-192)atT>atG		membrane bound O-acyltransferase domain containing 7							57	66	63					19																	54692085		2203	4300	6503	SO:0001583	missense	79143				phospholipid biosynthetic process	integral to membrane	acyltransferase activity	g.chr19:54692085A>C	AF211969	CCDS12883.1, CCDS54315.1, CCDS54316.1	19q13.4	2008-12-15	2008-01-17	2008-01-17	ENSG00000125505	ENSG00000125505			15505	protein-coding gene	gene with protein product	"lysophosphatidylinositol acyltransferase"	606048	"leukocyte receptor cluster (LRC) member 4"	LENG4		10941842, 8702217, 18094042	Standard	NM_024298		Approved	BB1, hMBOA-7, LPIAT	uc002qdr.3	Q96N66	OTTHUMG00000066516	ENST00000245615.1:c.192T>G	19.37:g.54692085A>C	ENSP00000245615:p.Ile64Met					MBOAT7_ENST00000391754.1_Missense_Mutation_p.I64M|MBOAT7_ENST00000431666.2_Missense_Mutation_p.S34A|MBOAT7_ENST00000474910.1_5'UTR|MBOAT7_ENST00000338624.6_Missense_Mutation_p.S34A	p.I64M	NM_024298.3	NP_077274.3	Q96N66	MBOA7_HUMAN			3	672	-	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)		64					A9C4B6|B0V3I5|B4DQ87|Q05DF0|Q7L5N2|Q99908|Q9BPV2|Q9BRE9	Missense_Mutation	SNP	ENST00000245615.1	37	c.192T>G	CCDS12883.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	12.69|12.69	2.012418|2.012418	0.35511|0.35511	.|.	.|.	ENSG00000125505|ENSG00000125505	ENST00000245615;ENST00000449249;ENST00000391754;ENST00000414665;ENST00000453320|ENST00000431666;ENST00000338624	T;T;T|T;T	0.43688|0.18810	2.28;1.54;0.94|2.19;2.19	4.06|4.06	-0.178|-0.178	0.13303|0.13303	.|.	0.440054|.	0.22301|.	N|.	0.061877|.	T|T	0.11239|0.11239	0.0274|0.0274	.|.	.|.	.|.	0.18873|0.18873	N|N	0.999981|0.999981	B;B|B	0.20368|0.02656	0.026;0.044|0.0	B;B|B	0.20577|0.01281	0.03;0.024|0.0	T|T	0.32455|0.32455	-0.9906|-0.9906	9|8	0.28530|0.45353	T|T	0.3|0.12	-3.0742|-3.0742	0.5963|0.5963	0.00736|0.00736	0.3811:0.2412:0.22:0.1578|0.3811:0.2412:0.22:0.1578	.|.	46;64|34	B4DDH8;Q96N66|Q96N66-2	.;MBOA7_HUMAN|.	M|A	64;16;64;64;64|34	ENSP00000245615:I64M;ENSP00000375634:I64M;ENSP00000388250:I64M|ENSP00000410503:S34A;ENSP00000344377:S34A	ENSP00000245615:I64M|ENSP00000344377:S34A	I|S	-|-	3|1	3|0	MBOAT7|MBOAT7	59383897|59383897	0.995000|0.995000	0.38212|0.38212	0.999000|0.999000	0.59377|0.59377	0.986000|0.986000	0.74619|0.74619	0.210000|0.210000	0.17455|0.17455	0.089000|0.089000	0.17243|0.17243	0.459000|0.459000	0.35465|0.35465	ATT|TCA		0.607	MBOAT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142203.1	NM_024298		3	97	0	0	0	0.004672	0	3	97					C	54692085	A	C	54692085	3	2	166	1	0	0	0	0	1	0	0	0	9358	246	9	5	1254	5	MBOAT7	19	54692085	Missense_Mutation	SNP	A	TCGA-G9-6365-01A-11D-1786-08	3330319	54692085	4436898	43	8003											
GNAS	2778	broad.mit.edu	37	chr20	57415470	57415470	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctccccgagtgcctagagtaCgaggaagagttcgactacga	11	7	12	11	4	0	2	0	0	0	2	2	7	1	3	3	1	3	2	3	1	4	4	rs373276011		TCGA-G9-6365-01A-11D-1786-08	TCGA-G9-6365-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	769e2ac9-a121-4b2a-a0fd-5f755b579811	bab99ce8-a7bc-4637-9322-032ea79b8c23	g.chr20:57415470C>T	ENST00000313949.7	+	1	698	c.309C>T	c.(307-309)taC>taT	p.Y103Y	GNAS-AS1_ENST00000443966.1_RNA|GNAS-AS1_ENST00000424094.2_RNA|GNAS-AS1_ENST00000598163.1_RNA|GNAS_ENST00000371098.2_Silent_p.Y103Y|GNAS_ENST00000371075.3_Silent_p.Y103Y			P63092	GNAS2_HUMAN	GNAS complex locus	0					activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-activating adrenergic receptor signaling pathway (GO:0071880)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|blood coagulation (GO:0007596)|bone development (GO:0060348)|cAMP biosynthetic process (GO:0006171)|cellular response to catecholamine stimulus (GO:0071870)|cellular response to glucagon stimulus (GO:0071377)|cellular response to prostaglandin E stimulus (GO:0071380)|cognition (GO:0050890)|developmental growth (GO:0048589)|energy reserve metabolic process (GO:0006112)|hair follicle placode formation (GO:0060789)|intracellular transport (GO:0046907)|platelet aggregation (GO:0070527)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of Ras GTPase activity (GO:0032320)|regulation of insulin secretion (GO:0050796)|sensory perception of smell (GO:0007608)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|intrinsic component of membrane (GO:0031224)|membrane (GO:0016020)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)	adenylate cyclase activity (GO:0004016)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)	p.Y103Y(1)		adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1)	441	all_lung(29;0.0104)		BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)			GCCTAGAGTACGAGGAAGAGT	0.627			Mis		pituitary adenoma		"McCune-Albright syndrome; pseudohypoparathyroidism, type IA"			TSP Lung(22;0.16)																											Colon(117;935 1597 6045 8307 46442)	ENST00000313949.7				Dom	yes		20	20q13.2	2778	Mis	"guanine nucleotide binding protein (G protein), alpha stimulating activity polypeptide 1"	yes	"McCune-Albright syndrome; pseudohypoparathyroidism, type IA"	E			pituitary adenoma		1	Substitution - coding silent(1)	p.Y103Y(1)	prostate(1)	adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1)	441						c.(307-309)taC>taT		GNAS complex locus		C		2,4404	4.2+/-10.8	0,2,2201	79	81	80		309	4.2	1	20		80	0,8600		0,0,4300	no	coding-synonymous	GNAS	NM_016592.2		0,2,6501	TT,TC,CC		0.0,0.0454,0.0154		103/246	57415470	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	2778				activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport	heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane	adenylate cyclase activity|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity	g.chr20:57415470C>T	M21142	CCDS13471.1, CCDS13472.1, CCDS42892.1, CCDS46622.1, CCDS46623.1, CCDS46624.1	20q13.2-q13.3	2010-03-01	2001-12-19	2001-12-20	ENSG00000087460	ENSG00000087460			4392	protein-coding gene	gene with protein product	"secretogranin VI"	139320	"guanine nucleotide binding protein (G protein), alpha stimulating activity polypeptide 1"	GNAS1			Standard	NM_000516		Approved	NESP55, NESP, GNASXL, GPSA, SCG6	uc002xzw.3	O95467	OTTHUMG00000033069	ENST00000313949.7:c.309C>T	20.37:g.57415470C>T		TSP Lung(22;0.16)				GNAS_ENST00000371098.2_Silent_p.Y103Y|GNAS-AS1_ENST00000424094.2_RNA|GNAS-AS1_ENST00000598163.1_RNA|GNAS-AS1_ENST00000443966.1_RNA|GNAS_ENST00000371075.3_Silent_p.Y103Y	p.Y103Y			P63092	GNAS2_HUMAN	BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)		1	698	+	all_lung(29;0.0104)		105					A6NI00|E1P5G5|P04895|Q12927|Q14433|Q32P26|Q5JWD2|Q5JWD4|Q5JWD5|Q6NR75|Q6NXS0|Q8TBC0|Q96H70	Silent	SNP	ENST00000313949.7	37	c.309C>T	CCDS13471.1																																																																																				0.627	GNAS-002	KNOWN	NMD_exception|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000080418.7	NM_000516		32	91	0	0	0	0.002096	0	32	91					T	57415470	C	T	57415470	2	4	166	1	0	0	0	0	0	0	0	1	6510	547	19	1		1	GNAS	20	57415470	Silent	SNP	C	TCGA-G9-6365-01A-11D-1786-08		57415470	5610050	44	8004											
AGPAT3	56894	broad.mit.edu	37	chr21	45400973	45400973	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gaacttcctgtcctgggccaCcattctcctgtctcccctct	4	13	6	18	0	3	0	0	0	3	0	7	1	5	0	7	1	1	0	7	1	1	2			TCGA-G9-6365-01A-11D-1786-08	TCGA-G9-6365-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	769e2ac9-a121-4b2a-a0fd-5f755b579811	bab99ce8-a7bc-4637-9322-032ea79b8c23	g.chr21:45400973C>A	ENST00000398063.2	+	8	1439	c.947C>A	c.(946-948)aCc>aAc	p.T316N	AGPAT3_ENST00000398058.1_Missense_Mutation_p.T316N|AGPAT3_ENST00000291572.8_Missense_Mutation_p.T316N|AGPAT3_ENST00000479117.1_3'UTR|AGPAT3_ENST00000327505.2_Missense_Mutation_p.T316N|AGPAT3_ENST00000546158.1_Missense_Mutation_p.T316N|AGPAT3_ENST00000398061.1_Missense_Mutation_p.T316N	NM_001037553.1	NP_001032642.1	Q9NRZ7	PLCC_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 3	316					CDP-diacylglycerol biosynthetic process (GO:0016024)|cellular lipid metabolic process (GO:0044255)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidic acid biosynthetic process (GO:0006654)|phospholipid biosynthetic process (GO:0008654)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	1-acylglycerol-3-phosphate O-acyltransferase activity (GO:0003841)	p.T316N(1)		large_intestine(4)|lung(5)|ovary(1)|prostate(1)	11				STAD - Stomach adenocarcinoma(101;0.18)|Colorectal(79;0.24)		TCCTGGGCCACCATTCTCCTG	0.552																																					Pancreas(60;623 1650 5574 52796)	ENST00000398063.2																			1	Substitution - Missense(1)	p.T316N(1)	prostate(1)	large_intestine(4)|lung(5)|ovary(1)|prostate(1)	11						c.(946-948)aCc>aAc		1-acylglycerol-3-phosphate O-acyltransferase 3							127	114	119					21																	45400973		2203	4300	6503	SO:0001583	missense	56894				phospholipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|plasma membrane	1-acylglycerol-3-phosphate O-acyltransferase activity	g.chr21:45400973C>A	AF156774	CCDS13703.1	21q22.3	2013-02-05			ENSG00000160216	ENSG00000160216	2.3.1.51	"1-acylglycerol-3-phosphate O-acyltransferases"	326	protein-coding gene	gene with protein product		614794					Standard	XM_005261159		Approved	LPAAT-gamma	uc002zdw.3	Q9NRZ7	OTTHUMG00000086892	ENST00000398063.2:c.947C>A	21.37:g.45400973C>A	ENSP00000381140:p.Thr316Asn					AGPAT3_ENST00000291572.8_Missense_Mutation_p.T316N|AGPAT3_ENST00000398061.1_Missense_Mutation_p.T316N|AGPAT3_ENST00000546158.1_Missense_Mutation_p.T316N|AGPAT3_ENST00000479117.1_3'UTR|AGPAT3_ENST00000398058.1_Missense_Mutation_p.T316N|AGPAT3_ENST00000327505.2_Missense_Mutation_p.T316N	p.T316N	NM_001037553.1	NP_001032642.1	Q9NRZ7	PLCC_HUMAN		STAD - Stomach adenocarcinoma(101;0.18)|Colorectal(79;0.24)	8	1439	+			316					D3DSL2|Q3ZCU2|Q6UWP6|Q6ZUC6|Q8N3Q7|Q9NRZ6	Missense_Mutation	SNP	ENST00000398063.2	37	c.947C>A	CCDS13703.1	.	.	.	.	.	.	.	.	.	.	C	14.65	2.599480	0.46318	.	.	ENSG00000160216	ENST00000291572;ENST00000398061;ENST00000327505;ENST00000398063;ENST00000398058;ENST00000546158	T;T;T;T;T;T	0.77098	-1.07;-1.07;-1.07;-1.07;-1.07;-1.07	4.93	4.93	0.64822	.	0.048823	0.85682	D	0.000000	D	0.82577	0.5067	M	0.72894	2.215	0.58432	D	0.999999	P;B	0.45902	0.868;0.071	P;B	0.48425	0.577;0.065	D	0.85158	0.0990	10	0.62326	D	0.03	-18.4501	18.1548	0.89687	0.0:1.0:0.0:0.0	.	336;316	Q9NRZ7-3;Q9NRZ7	.;PLCC_HUMAN	N	316	ENSP00000291572:T316N;ENSP00000381138:T316N;ENSP00000332989:T316N;ENSP00000381140:T316N;ENSP00000381135:T316N;ENSP00000443510:T316N	ENSP00000291572:T316N	T	+	2	0	AGPAT3	44225401	1.000000	0.71417	0.893000	0.35052	0.405000	0.30901	4.494000	0.60347	2.286000	0.76751	0.467000	0.42956	ACC		0.552	AGPAT3-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195722.1	NM_020132		4	121	1	0	1.23904e-05	0.000602	1.56027e-05	4	121					A	45400973	C	A	45400973	3	1	166	1	0	0	0	0	1	0	0	0	388	507	18	5	973	5	AGPAT3	21	45400973	Missense_Mutation	SNP	C	TCGA-G9-6365-01A-11D-1786-08		45400973	2728922	45	8005											
PTCH2	8643	broad.mit.edu	37	chr1	45293750	45293750	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tgaccacatgctggctgctgGcttcacagtgggtaaaggct	8	10	13	10	0	1	1	1	1	0	0	1	1	1	1	1	4	2	6	1	4	2	2			TCGA-G9-6366-01A-11D-2114-08	TCGA-G9-6366-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0042c94-9802-4593-9dd8-4352538c6bc7	39351351-11d3-499d-8fec-7bf34f38d3c5	g.chr1:45293750G>A	ENST00000372192.3	-	14	1953	c.1823C>T	c.(1822-1824)gCc>gTc	p.A608V	PTCH2_ENST00000447098.2_Missense_Mutation_p.A608V	NM_003738.4	NP_003729.3	Q9Y6C5	PTC2_HUMAN	patched 2	608					epidermis development (GO:0008544)|hair cycle (GO:0042633)|negative regulation of smoothened signaling pathway (GO:0045879)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	hedgehog family protein binding (GO:0097108)|hedgehog receptor activity (GO:0008158)|smoothened binding (GO:0005119)			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	50	Acute lymphoblastic leukemia(166;0.155)					CTGGCTGCTGGCTTCACAGTG	0.627									Basal Cell Nevus syndrome																													ENST00000447098.2																			0				NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	50						c.(1822-1824)gCc>gTc		patched 2							82	90	87					1																	45293750		2203	4300	6503	SO:0001583	missense	8643	Basal Cell Nevus syndrome	Familial Cancer Database	Gorlin syndrome, Gorlin-Golz syndrome, Naevoid Basal Cell Carcinoma syndrome, NBCCS	protein complex assembly|spermatogenesis	integral to plasma membrane	hedgehog receptor activity	g.chr1:45293750G>A	AF091501	CCDS516.1, CCDS53312.1	1p34.1	2010-06-24	2010-06-24		ENSG00000117425	ENSG00000117425			9586	protein-coding gene	gene with protein product		603673	"patched (Drosophila) homolog 2", "patched homolog 2 (Drosophila)"			9811851, 9931336	Standard	NM_003738		Approved		uc010olf.2	Q9Y6C5	OTTHUMG00000008490	ENST00000372192.3:c.1823C>T	1.37:g.45293750G>A	ENSP00000361266:p.Ala608Val					PTCH2_ENST00000372192.3_Missense_Mutation_p.A608V	p.A608V	NM_001166292.1	NP_001159764.1	Q9Y6C5	PTC2_HUMAN			14	1834	-	Acute lymphoblastic leukemia(166;0.155)		608					O95341|O95856|Q53Z57|Q5QP87|Q6UX14	Missense_Mutation	SNP	ENST00000372192.3	37	c.1823C>T	CCDS516.1	.	.	.	.	.	.	.	.	.	.	G	14.12	2.440757	0.43326	.	.	ENSG00000117425	ENST00000447098;ENST00000372192	D;D	0.92545	-3.05;-3.06	4.76	3.82	0.43975	.	0.472269	0.17926	N	0.157347	D	0.86594	0.5970	N	0.19112	0.55	0.33470	D	0.586079	B;B	0.16396	0.006;0.017	B;B	0.26094	0.006;0.066	D	0.84484	0.0607	10	0.36615	T	0.2	-36.8093	14.7631	0.69619	0.0:0.1455:0.8545:0.0	.	608;608	Q9Y6C5-2;Q9Y6C5	.;PTC2_HUMAN	V	608	ENSP00000389703:A608V;ENSP00000361266:A608V	ENSP00000361266:A608V	A	-	2	0	PTCH2	45066337	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.001000	0.63946	0.937000	0.37394	0.557000	0.71058	GCC		0.627	PTCH2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000023428.4	NM_003738		16	172	0	0	0	1	0	16	172					A	45293750	G	A	45293750	3	1	167	1	0	0	0	0	1	0	0	0	12731	1203	42	3	1844	3	PTCH2	1	45293750	Missense_Mutation	SNP	G	TCGA-G9-6366-01A-11D-2114-08		45293750	203956871	1	8006											
PGLYRP4	57115	broad.mit.edu	37	chr1	153314146	153314146	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgaggggccaggcagttctcGcctttcccaagaagtggctg	7	8	14	12	2	1	1	0	0	1	1	3	2	2	1	3	4	0	3	3	4	2	2	rs536231867		TCGA-G9-6366-01A-11D-2114-08	TCGA-G9-6366-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0042c94-9802-4593-9dd8-4352538c6bc7	39351351-11d3-499d-8fec-7bf34f38d3c5	g.chr1:153314146G>A	ENST00000359650.5	-	6	646	c.582C>T	c.(580-582)ggC>ggT	p.G194G	PGLYRP4_ENST00000368739.3_Silent_p.G190G	NM_020393.2	NP_065126.2	Q96LB8	PGRP4_HUMAN	peptidoglycan recognition protein 4	194					defense response to Gram-positive bacterium (GO:0050830)|detection of bacterium (GO:0016045)|growth of symbiont in host (GO:0044117)|innate immune response (GO:0045087)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of natural killer cell differentiation involved in immune response (GO:0032827)|pattern recognition receptor signaling pathway (GO:0002221)|peptidoglycan catabolic process (GO:0009253)	extracellular region (GO:0005576)|intracellular (GO:0005622)|membrane (GO:0016020)	N-acetylmuramoyl-L-alanine amidase activity (GO:0008745)|peptidoglycan binding (GO:0042834)|peptidoglycan receptor activity (GO:0016019)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1)	23	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.171)			GGCAGTTCTCGCCTTTCCCAA	0.572													G|||	1	0.000199681	0	0	5008	,	,		18535	0		0	False		,,,				2504	0.001					ENST00000368739.3																			0				breast(2)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1)	23						c.(568-570)ggC>ggT		peptidoglycan recognition protein 4							116	110	112					1																	153314146		2203	4300	6503	SO:0001819	synonymous_variant	57115				defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptidoglycan catabolic process	extracellular region|intracellular|membrane	N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding	g.chr1:153314146G>A	AF242518	CCDS30871.1	1q21	2008-02-05			ENSG00000163218	ENSG00000163218			30015	protein-coding gene	gene with protein product	"peptidoglycan recognition protein I beta precursor"	608198				11461926	Standard	XR_241090		Approved	SBBI67, PGRPIB, PGLYRPIbeta, PGRP-Ibeta	uc001fbo.3	Q96LB8	OTTHUMG00000037057	ENST00000359650.5:c.582C>T	1.37:g.153314146G>A						PGLYRP4_ENST00000359650.5_Silent_p.G194G	p.G190G			Q96LB8	PGRP4_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		6	928	-	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		194					A8K838|Q3B822|Q3B823|Q5SY63|Q5SY64|Q9HD75	Silent	SNP	ENST00000359650.5	37	c.570C>T	CCDS30871.1																																																																																				0.572	PGLYRP4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000089978.1	NM_020393		48	123	0	0	0	1	0	48	123					A	153314146	G	A	153314146	2	1	167	1	0	0	0	0	0	0	0	1	11796	1074	38	1		1	PGLYRP4	1	153314146	Silent	SNP	G	TCGA-G9-6366-01A-11D-2114-08	108020396	153314146	95936475	2	8007											
KCNJ10	3766	broad.mit.edu	37	chr1	160011538	160011538	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggagatctttcaagggactgGtctcatctaccacatgatag	11	11	10	9	0	4	2	2	1	3	1	5	4	4	3	1	3	1	0	1	3	3	3	rs541734962		TCGA-G9-6366-01A-11D-2114-08	TCGA-G9-6366-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0042c94-9802-4593-9dd8-4352538c6bc7	39351351-11d3-499d-8fec-7bf34f38d3c5	g.chr1:160011538G>A	ENST00000368089.3	-	2	1011	c.785C>T	c.(784-786)aCc>aTc	p.T262I	KCNJ10_ENST00000509700.1_Intron	NM_002241.4	NP_002232.2	P78508	KCJ10_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 10	262					adult walking behavior (GO:0007628)|central nervous system myelination (GO:0022010)|inflammatory response (GO:0006954)|L-glutamate uptake involved in synaptic transmission (GO:0051935)|membrane hyperpolarization (GO:0060081)|optic nerve development (GO:0021554)|potassium ion homeostasis (GO:0055075)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|protein homotetramerization (GO:0051289)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of resting membrane potential (GO:0060075)|regulation of sensory perception of pain (GO:0051930)|response to blue light (GO:0009637)|response to glucocorticoid (GO:0051384)|response to mineralocorticoid (GO:0051385)|synaptic transmission (GO:0007268)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|dystrophin-associated glycoprotein complex (GO:0016010)|integral component of plasma membrane (GO:0005887)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATP-activated inward rectifier potassium channel activity (GO:0015272)			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)	17	all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)		Yohimbine(DB01392)	CAAGGGACTGGTCTCATCTAC	0.522																																					GBM(167;1368 2014 14817 36425 43215)	ENST00000368089.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)	17						c.(784-786)aCc>aTc		potassium inwardly-rectifying channel, subfamily J, member 10							116	115	115					1																	160011538		2203	4300	6503	SO:0001583	missense	3766					integral to plasma membrane	ATP binding|ATP-activated inward rectifier potassium channel activity	g.chr1:160011538G>A	U52155	CCDS1193.1	1q23.2	2011-07-05			ENSG00000177807	ENSG00000177807		"Potassium channels", "Voltage-gated ion channels / Potassium channels, Inwardly rectifying"	6256	protein-coding gene	gene with protein product		602208				9367690, 8995301, 16382105	Standard	NM_002241		Approved	Kir4.1, Kir1.2	uc001fuw.2	P78508	OTTHUMG00000024073	ENST00000368089.3:c.785C>T	1.37:g.160011538G>A	ENSP00000357068:p.Thr262Ile					KCNJ10_ENST00000509700.1_Intron	p.T262I	NM_002241.4	NP_002232.2	P78508	IRK10_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)		2	1011	-	all_hematologic(112;0.093)		262					A3KME7|Q5VUT9|Q8N4I7|Q92808	Missense_Mutation	SNP	ENST00000368089.3	37	c.785C>T	CCDS1193.1	.	.	.	.	.	.	.	.	.	.	G	13.10	2.134815	0.37728	.	.	ENSG00000177807	ENST00000368089	D	0.91945	-2.94	5.3	4.36	0.52297	Immunoglobulin E-set (1);Potassium channel, inwardly rectifying, Kir, conserved region 2 (2);Potassium channel, inwardly rectifying, Kir, cytoplasmic (1);	0.290238	0.37715	N	0.001969	D	0.83261	0.5216	L	0.41492	1.28	0.36603	D	0.874779	B	0.31625	0.332	B	0.33042	0.157	D	0.83578	0.0116	10	0.51188	T	0.08	.	12.8551	0.57880	0.0:0.0:0.8358:0.1641	.	262	P78508	IRK10_HUMAN	I	262	ENSP00000357068:T262I	ENSP00000357068:T262I	T	-	2	0	KCNJ10	158278162	0.088000	0.21588	1.000000	0.80357	0.974000	0.67602	0.371000	0.20450	1.424000	0.47217	0.655000	0.94253	ACC		0.522	KCNJ10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060629.1	NM_002241		5	111	0	0	0	1	0	5	111					A	160011538	G	A	160011538	3	1	167	1	0	0	0	0	1	0	0	0	8044	1261	44	3	358	3	KCNJ10	1	160011538	Missense_Mutation	SNP	G	TCGA-G9-6366-01A-11D-2114-08	6697392	160011538	89239083	3	8008											
CNST	163882	broad.mit.edu	37	chr1	246810985	246810985	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatcttacagacagtgatggAaaatcaccacaggcgcaggc	14	6	11	10	1	2	2	1	1	1	1	2	4	2	3	1	3	1	1	1	3	3	1			TCGA-G9-6366-01A-11D-2114-08	TCGA-G9-6366-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0042c94-9802-4593-9dd8-4352538c6bc7	39351351-11d3-499d-8fec-7bf34f38d3c5	g.chr1:246810985A>G	ENST00000366513.4	+	9	1751	c.1482A>G	c.(1480-1482)ggA>ggG	p.G494G	CNST_ENST00000366512.3_Silent_p.G494G|CNST_ENST00000483271.1_3'UTR	NM_152609.2	NP_689822.2	Q6PJW8	CNST_HUMAN	consortin, connexin sorting protein	494					negative regulation of phosphatase activity (GO:0010923)|positive regulation of Golgi to plasma membrane protein transport (GO:0042998)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|trans-Golgi network (GO:0005802)|transport vesicle (GO:0030133)	connexin binding (GO:0071253)|phosphatase binding (GO:0019902)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|prostate(1)|urinary_tract(2)	28						ACAGTGATGGAAAATCACCAC	0.473																																						ENST00000366513.4																			0				breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|prostate(1)|urinary_tract(2)	28						c.(1480-1482)ggA>ggG		consortin, connexin sorting protein							70	73	72					1																	246810985		2203	4300	6503	SO:0001819	synonymous_variant	163882				positive regulation of Golgi to plasma membrane protein transport	integral to membrane|plasma membrane|protein complex|trans-Golgi network|transport vesicle	connexin binding	g.chr1:246810985A>G	AK056563	CCDS1628.1, CCDS44343.1	1q44	2012-04-17	2009-11-03	2009-11-03	ENSG00000162852	ENSG00000162852		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	26486	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 64"	613439	"chromosome 1 open reading frame 71"	C1orf71		19864490	Standard	NM_152609		Approved	FLJ32001, PPP1R64	uc001ibp.3	Q6PJW8	OTTHUMG00000040090	ENST00000366513.4:c.1482A>G	1.37:g.246810985A>G						CNST_ENST00000483271.1_3'UTR|CNST_ENST00000366512.3_Silent_p.G494G	p.G494G	NM_152609.2	NP_689822.2	Q6PJW8	CNST_HUMAN			9	1751	+			494					Q5VSY9|Q5VTM7|Q8IYA9|Q8N3L5|Q8NB09|Q8TEI2|Q96MR5	Silent	SNP	ENST00000366513.4	37	c.1482A>G	CCDS1628.1																																																																																				0.473	CNST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096780.1	NM_152609		8	78	0	0	0	1	0	8	78					G	246810985	A	G	246810985	2	3	167	1	0	0	0	0	0	0	0	1	3634	233	9	4		4	CNST	1	246810985	Silent	SNP	A	TCGA-G9-6366-01A-11D-2114-08	86799447	246810985	2439636	4	8009											
WDR33	55339	broad.mit.edu	37	chr2	128467314	128467314	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgagatctcgtcctcgggccGcttcctcagaagcatcaaaa	10	9	9	13	3	3	2	2	1	1	2	7	3	5	2	3	1	1	2	3	1	3	1	rs139877926		TCGA-G9-6366-01A-11D-2114-08	TCGA-G9-6366-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0042c94-9802-4593-9dd8-4352538c6bc7	39351351-11d3-499d-8fec-7bf34f38d3c5	g.chr2:128467314G>A	ENST00000322313.4	-	19	3583	c.3425C>T	c.(3424-3426)gCg>gTg	p.A1142V		NM_018383.4	NP_060853.3	Q9C0J8	WDR33_HUMAN	WD repeat domain 33	1142					mRNA processing (GO:0006397)|postreplication repair (GO:0006301)|spermatogenesis (GO:0007283)	collagen trimer (GO:0005581)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0695)		TCCTCGGGCCGCTTCCTCAGA	0.577																																						ENST00000322313.4																			0				NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39						c.(3424-3426)gCg>gTg		WD repeat domain 33		G	VAL/ALA	0,4406		0,0,2203	86	95	92		3425	4.4	0.8	2	dbSNP_134	92	3,8597	3.0+/-9.4	0,3,4297	yes	missense	WDR33	NM_018383.4	64	0,3,6500	AA,AG,GG		0.0349,0.0,0.0231	possibly-damaging	1142/1337	128467314	3,13003	2203	4300	6503	SO:0001583	missense	55339				postreplication repair|spermatogenesis	collagen|nucleus	protein binding	g.chr2:128467314G>A		CCDS2150.1, CCDS42746.1, CCDS46407.1	2q21.1	2013-01-09			ENSG00000136709	ENSG00000136709		"WD repeat domain containing"	25651	protein-coding gene	gene with protein product						11162572	Standard	NM_001006622		Approved	FLJ11294, WDC146, NET14	uc002tpg.2	Q9C0J8	OTTHUMG00000131534	ENST00000322313.4:c.3425C>T	2.37:g.128467314G>A	ENSP00000325377:p.Ala1142Val						p.A1142V	NM_018383.4	NP_060853.3	Q9C0J8	WDR33_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0695)	19	3583	-	Colorectal(110;0.1)		1142					Q05DP8|Q53FG9|Q587J1|Q69YF7|Q6NUQ0|Q9NUL1	Missense_Mutation	SNP	ENST00000322313.4	37	c.3425C>T	CCDS2150.1	.	.	.	.	.	.	.	.	.	.	G	14.63	2.593170	0.46214	0.0	3.49E-4	ENSG00000136709	ENST00000322313	D	0.89196	-2.48	5.32	4.38	0.52667	.	0.746972	0.12974	N	0.423904	T	0.78310	0.4263	N	0.08118	0	0.09310	N	0.999998	B	0.15141	0.012	B	0.10450	0.005	T	0.64262	-0.6449	10	0.28530	T	0.3	-3.801	13.2799	0.60208	0.0:0.0:0.7618:0.2382	.	1142	Q9C0J8	WDR33_HUMAN	V	1142	ENSP00000325377:A1142V	ENSP00000325377:A1142V	A	-	2	0	WDR33	128183784	0.967000	0.33354	0.788000	0.31933	0.936000	0.57629	2.405000	0.44548	2.493000	0.84123	0.561000	0.74099	GCG		0.577	WDR33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331141.2	NM_018383		4	131	0	0	0	1	0	4	131					A	128467314	G	A	128467314	3	1	167	1	0	0	0	0	1	0	0	0	17284	1087	38	1	601	1	WDR33	2	128467314	Missense_Mutation	SNP	G	TCGA-G9-6366-01A-11D-2114-08		128467314	114732059	5	8010											
CACNB4	785	broad.mit.edu	37	chr2	152732968	152732968	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaacgtcctcttttttgttCttgctggatccgtatgttct	6	19	7	9	2	3	0	0	0	3	0	5	1	5	1	2	1	2	4	2	1	3	7			TCGA-G9-6366-01A-11D-2114-08	TCGA-G9-6366-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0042c94-9802-4593-9dd8-4352538c6bc7	39351351-11d3-499d-8fec-7bf34f38d3c5	g.chr2:152732968C>A	ENST00000539935.1	-	5	560	c.493G>T	c.(493-495)Gaa>Taa	p.E165*	CACNB4_ENST00000534999.1_Nonsense_Mutation_p.E131*|CACNB4_ENST00000397327.2_Nonsense_Mutation_p.E118*|CACNB4_ENST00000201943.5_Nonsense_Mutation_p.E165*|CACNB4_ENST00000427385.1_Nonsense_Mutation_p.E147*|CACNB4_ENST00000360283.6_Nonsense_Mutation_p.E131*	NM_000726.3|NM_001145798.1	NP_000717.2|NP_001139270.1	O00305	CACB4_HUMAN	calcium channel, voltage-dependent, beta 4 subunit	165					adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|calcium ion transmembrane transport (GO:0070588)|cAMP metabolic process (GO:0046058)|cellular calcium ion homeostasis (GO:0006874)|detection of light stimulus involved in visual perception (GO:0050908)|gamma-aminobutyric acid secretion (GO:0014051)|gamma-aminobutyric acid signaling pathway (GO:0007214)|membrane depolarization (GO:0051899)|muscle fiber development (GO:0048747)|neuromuscular junction development (GO:0007528)|neuronal action potential propagation (GO:0019227)|Peyer's patch development (GO:0048541)|regulation of voltage-gated calcium channel activity (GO:1901385)|spleen development (GO:0048536)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|T cell receptor signaling pathway (GO:0050852)|thymus development (GO:0048538)|transport (GO:0006810)	cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|plasma membrane (GO:0005886)|synapse (GO:0045202)|voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)	11				BRCA - Breast invasive adenocarcinoma(221;0.156)	Dronedarone(DB04855)|Nimodipine(DB00393)|Spironolactone(DB00421)|Verapamil(DB00661)	CTTTTTTGTTCTTGCTGGATC	0.408																																						ENST00000360283.6																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)	11						c.(391-393)Gaa>Taa		calcium channel, voltage-dependent, beta 4 subunit	Verapamil(DB00661)						135	128	130					2																	152732968		1901	4127	6028	SO:0001587	stop_gained	785				axon guidance|membrane depolarization|synaptic transmission	cytosol|internal side of plasma membrane|plasma membrane|synapse|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity	g.chr2:152732968C>A	AF038852	CCDS46426.1, CCDS46427.1, CCDS46428.1, CCDS54409.1	2q22-q23	2009-09-04			ENSG00000182389	ENSG00000182389		"Calcium channel subunits"	1404	protein-coding gene	gene with protein product		601949				9628818	Standard	NM_000726		Approved	EJM4	uc002tya.3	O00305	OTTHUMG00000155091	ENST00000539935.1:c.493G>T	2.37:g.152732968C>A	ENSP00000438949:p.Glu165*					CACNB4_ENST00000427385.1_Nonsense_Mutation_p.E147*|CACNB4_ENST00000397327.2_Nonsense_Mutation_p.E118*|CACNB4_ENST00000539935.1_Nonsense_Mutation_p.E165*|CACNB4_ENST00000201943.5_Nonsense_Mutation_p.E165*|CACNB4_ENST00000534999.1_Nonsense_Mutation_p.E131*	p.E131*			O00305	CACB4_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.156)	4	648	-			165			SH3.		A7BJ74|A8K1Y4|B4DG40|O60515|Q6B000|Q96L40	Nonsense_Mutation	SNP	ENST00000539935.1	37	c.391G>T	CCDS46426.1	.	.	.	.	.	.	.	.	.	.	C	36	5.784627	0.96937	.	.	ENSG00000182389	ENST00000539935;ENST00000360283;ENST00000543269;ENST00000439467;ENST00000534999;ENST00000397327;ENST00000427385;ENST00000201943;ENST00000339254	.	.	.	5.63	5.63	0.86233	.	0.046855	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.52906	T	0.07	-21.2862	20.0499	0.97621	0.0:1.0:0.0:0.0	.	.	.	.	X	165;131;122;160;131;118;147;165;165	.	ENSP00000201943:E165X	E	-	1	0	CACNB4	152441214	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.754000	0.85163	2.798000	0.96311	0.655000	0.94253	GAA		0.408	CACNB4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000338385.4	NM_000726.3		10	16	1	0	1.5842e-08	1	1.74262e-08	10	16					A	152732968	C	A	152732968	4	1	167	1	0	0	0	0	0	1	0	0	2555	922	32	5	1109	5	CACNB4	2	152732968	Nonsense_Mutation	SNP	C	TCGA-G9-6366-01A-11D-2114-08	24265654	152732968	90466405	6	8011											
SAG	6295	broad.mit.edu	37	chr2	234237163	234237163	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	atccgcaaagtacagcatgcCccacttgagatgggtcccca	11	7	9	14	1	0	1	0	1	0	1	2	2	2	1	5	1	3	3	5	1	2	2			TCGA-G9-6366-01A-11D-2114-08	TCGA-G9-6366-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0042c94-9802-4593-9dd8-4352538c6bc7	39351351-11d3-499d-8fec-7bf34f38d3c5	g.chr2:234237163C>T	ENST00000409110.1	+	8	782	c.552C>T	c.(550-552)gcC>gcT	p.A184A	SAG_ENST00000449594.2_Silent_p.A50A	NM_000541.4	NP_000532.2	P10523	ARRS_HUMAN	S-antigen; retina and pineal gland (arrestin)	184					cell surface receptor signaling pathway (GO:0007166)|negative regulation of catalytic activity (GO:0043086)|phototransduction, visible light (GO:0007603)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|visual perception (GO:0007601)	cytosol (GO:0005829)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)	protein phosphatase inhibitor activity (GO:0004864)			cervix(1)|kidney(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	9		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.018)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.054)		Epithelial(121;2.86e-17)|BRCA - Breast invasive adenocarcinoma(100;0.00037)|LUSC - Lung squamous cell carcinoma(224;0.00608)|Lung(119;0.00714)|GBM - Glioblastoma multiforme(43;0.207)		TACAGCATGCCCCACTTGAGA	0.587																																						ENST00000409110.1																			0				cervix(1)|kidney(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	9						c.(550-552)gcC>gcT		S-antigen; retina and pineal gland (arrestin)							158	144	148					2																	234237163		2012	4176	6188	SO:0001819	synonymous_variant	6295				rhodopsin mediated phototransduction|rhodopsin mediated signaling pathway		protein phosphatase inhibitor activity	g.chr2:234237163C>T		CCDS46545.1	2q37.1	2013-02-14			ENSG00000130561	ENSG00000130561			10521	protein-coding gene	gene with protein product	"arrestin 1"	181031				2249983	Standard	NM_000541		Approved	ARRESTIN, RP47	uc002vuh.2	P10523	OTTHUMG00000153213	ENST00000409110.1:c.552C>T	2.37:g.234237163C>T						SAG_ENST00000449594.2_Silent_p.A50A	p.A184A	NM_000541.4	NP_000532.2	P10523	ARRS_HUMAN		Epithelial(121;2.86e-17)|BRCA - Breast invasive adenocarcinoma(100;0.00037)|LUSC - Lung squamous cell carcinoma(224;0.00608)|Lung(119;0.00714)|GBM - Glioblastoma multiforme(43;0.207)	8	782	+		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.018)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.054)	184					A0FDN6|Q53SV3|Q99858	Silent	SNP	ENST00000409110.1	37	c.552C>T	CCDS46545.1																																																																																				0.587	SAG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330126.1	NM_000541		7	140	0	0	0	1	0	7	140					T	234237163	C	T	234237163	2	4	167	1	0	0	0	0	0	0	0	1	13808	610	22	3		3	SAG	2	234237163	Silent	SNP	C	TCGA-G9-6366-01A-11D-2114-08	81504195	234237163	8962210	7	8012											
IL17RC	84818	broad.mit.edu	37	chr3	9962224	9962224	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgccctagggagtgaggtacGaatctggtcctatactcagc	9	10	12	10	1	2	1	1	1	1	0	3	3	3	2	2	3	4	1	2	3	5	4			TCGA-G9-6366-01A-11D-2114-08	TCGA-G9-6366-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0042c94-9802-4593-9dd8-4352538c6bc7	39351351-11d3-499d-8fec-7bf34f38d3c5	g.chr3:9962224G>A	ENST00000295981.3	+	6	946	c.728G>A	c.(727-729)cGa>cAa	p.R243Q	RNU6-882P_ENST00000391025.1_RNA|IL17RC_ENST00000413608.1_Missense_Mutation_p.R172Q|IL17RC_ENST00000383812.4_Missense_Mutation_p.R172Q|IL17RC_ENST00000416074.2_Missense_Mutation_p.R43Q|IL17RC_ENST00000455057.1_Missense_Mutation_p.R172Q|IL17RC_ENST00000498214.1_3'UTR|IL17RC_ENST00000403601.3_Missense_Mutation_p.R172Q	NM_153461.3	NP_703191	Q8NAC3	I17RC_HUMAN	interleukin 17 receptor C	243					cytokine-mediated signaling pathway (GO:0019221)|positive regulation of cytokine production involved in inflammatory response (GO:1900017)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	interleukin-17 receptor activity (GO:0030368)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						AGTGAGGTACGAATCTGGTCC	0.592																																						ENST00000295981.3																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						c.(727-729)cGa>cAa		interleukin 17 receptor C							79	65	70					3																	9962224		2203	4298	6501	SO:0001583	missense	84818					integral to membrane|plasma membrane	receptor activity	g.chr3:9962224G>A	BC006411	CCDS2590.1, CCDS2591.2, CCDS46746.1, CCDS56240.1, CCDS56241.1, CCDS74898.1	3p25.3	2008-02-05			ENSG00000163702	ENSG00000163702		"Interleukins and interleukin receptors"	18358	protein-coding gene	gene with protein product		610925				11706037	Standard	NM_153460		Approved	IL17-RL	uc003bua.3	Q8NAC3	OTTHUMG00000128648	ENST00000295981.3:c.728G>A	3.37:g.9962224G>A	ENSP00000295981:p.Arg243Gln					IL17RC_ENST00000403601.3_Missense_Mutation_p.R172Q|IL17RC_ENST00000498214.1_3'UTR|IL17RC_ENST00000455057.1_Missense_Mutation_p.R172Q|IL17RC_ENST00000383812.4_Missense_Mutation_p.R172Q|IL17RC_ENST00000413608.1_Missense_Mutation_p.R172Q|IL17RC_ENST00000416074.2_Missense_Mutation_p.R43Q	p.R243Q	NM_153461.3	NP_703191.1	Q8NAC3	I17RC_HUMAN			6	946	+			243					E9PHG1|E9PHJ6|Q6UVY3|Q6UWD4|Q8NFS1|Q9BR97	Missense_Mutation	SNP	ENST00000295981.3	37	c.728G>A	CCDS2590.1	.	.	.	.	.	.	.	.	.	.	G	6.775	0.511914	0.12944	.	.	ENSG00000163702	ENST00000383812;ENST00000438091;ENST00000295981;ENST00000436503;ENST00000403601;ENST00000416074;ENST00000455057;ENST00000413608	T;T;T;T;T;T;T;T	0.13538	2.58;2.58;2.58;2.58;2.58;2.58;2.58;2.58	5.5	-4.92	0.03075	.	1.302160	0.05310	N	0.524692	T	0.07908	0.0198	N	0.10874	0.06	0.09310	N	1	B;B;B;B;B;B;B;B;B	0.17465	0.012;0.021;0.003;0.003;0.022;0.022;0.005;0.008;0.021	B;B;B;B;B;B;B;B;B	0.14578	0.005;0.004;0.001;0.001;0.003;0.003;0.003;0.001;0.011	T	0.36237	-0.9756	10	0.28530	T	0.3	0.2378	13.3705	0.60711	0.6826:0.0:0.3174:0.0	.	172;43;172;172;172;172;172;243;172	Q8NAC3-4;F5H4Z2;E9PHG1;A8BWD5;E9PHJ6;A8BWC9;Q8NAC3-3;Q8NAC3;Q8NAC3-2	.;.;.;.;.;.;.;I17RC_HUMAN;.	Q	172;147;243;147;172;43;172;172	ENSP00000373323:R172Q;ENSP00000414609:R147Q;ENSP00000295981:R243Q;ENSP00000401128:R147Q;ENSP00000384969:R172Q;ENSP00000395315:R43Q;ENSP00000407894:R172Q;ENSP00000396064:R172Q	ENSP00000295981:R243Q	R	+	2	0	IL17RC	9937224	0.009000	0.17119	0.002000	0.10522	0.419000	0.31324	-0.765000	0.04730	-1.458000	0.01916	-0.244000	0.11960	CGA		0.592	IL17RC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250526.2	NM_032732		6	28	0	0	0	1	0	6	28					A	9962224	G	A	9962224	3	1	167	1	0	0	0	0	1	0	0	0	7641	1058	37	2	750	2	IL17RC	3	9962224	Missense_Mutation	SNP	G	TCGA-G9-6366-01A-11D-2114-08		9962224	188060206	8	8013											
SACM1L	22908	broad.mit.edu	37	chr3	45745007	45745007	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	acttaccattgaccgtgtgtCcacagaggttacccttgcag	9	11	9	12	1	0	2	0	1	0	1	1	2	1	2	4	1	3	2	4	1	2	4			TCGA-G9-6366-01A-11D-2114-08	TCGA-G9-6366-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0042c94-9802-4593-9dd8-4352538c6bc7	39351351-11d3-499d-8fec-7bf34f38d3c5	g.chr3:45745007C>A	ENST00000389061.5	+	2	314	c.110C>A	c.(109-111)tCc>tAc	p.S37Y	SACM1L_ENST00000418611.1_5'UTR|SACM1L_ENST00000464524.1_3'UTR|SACM1L_ENST00000541314.1_Missense_Mutation_p.P19T	NM_014016.3	NP_054735.3	Q9NTJ5	SAC1_HUMAN	SAC1 suppressor of actin mutations 1-like (yeast)	37					phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of endoplasmic reticulum membrane (GO:0030176)	phosphatase activity (GO:0016791)|phosphatidylinositol bisphosphate phosphatase activity (GO:0034593)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphatidylinositol-4-phosphate phosphatase activity (GO:0043812)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)	23				BRCA - Breast invasive adenocarcinoma(193;0.0102)|KIRC - Kidney renal clear cell carcinoma(197;0.0234)|Kidney(197;0.0277)		GACCGTGTGTCCACAGAGGTT	0.353																																						ENST00000389061.5																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)	23						c.(109-111)tCc>tAc		SAC1 suppressor of actin mutations 1-like (yeast)							135	131	133					3																	45745007		2203	4300	6503	SO:0001583	missense	22908					Golgi apparatus		g.chr3:45745007C>A	AB020658	CCDS33745.1	3p21.3	2010-03-11			ENSG00000211456	ENSG00000211456			17059	protein-coding gene	gene with protein product		606569				10048485, 11352561	Standard	NM_014016		Approved	SAC1, KIAA0851	uc003cos.2	Q9NTJ5	OTTHUMG00000156653	ENST00000389061.5:c.110C>A	3.37:g.45745007C>A	ENSP00000373713:p.Ser37Tyr					SACM1L_ENST00000541314.1_Missense_Mutation_p.P19T|SACM1L_ENST00000418611.1_5'UTR|SACM1L_ENST00000464524.1_3'UTR	p.S37Y	NM_014016.3	NP_054735.3	Q9NTJ5	SAC1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.0102)|KIRC - Kidney renal clear cell carcinoma(197;0.0234)|Kidney(197;0.0277)	2	314	+			37					A8K527|B4DK71|O94935|Q7LA14|Q7LA22|Q96AX7|Q9NQ46|Q9NQ57	Missense_Mutation	SNP	ENST00000389061.5	37	c.110C>A	CCDS33745.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.27|18.27	3.586607|3.586607	0.66105|0.66105	.|.	.|.	ENSG00000211456|ENSG00000211456	ENST00000438671;ENST00000541314|ENST00000389061	T|T	0.40476|0.47869	1.03|0.83	5.33|5.33	5.33|5.33	0.75918|0.75918	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.71126|0.71126	0.3303|0.3303	M|M	0.81239|0.81239	2.535|2.535	0.37153|0.37153	D|D	0.902221|0.902221	B|D	0.20780|0.65815	0.048|0.995	B|D	0.27500|0.68765	0.08|0.96	T|T	0.77648|0.77648	-0.2509|-0.2509	9|10	0.87932|0.59425	D|D	0|0.04	-11.5372|-11.5372	19.0448|19.0448	0.93015|0.93015	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	19|37	B4DK71|Q9NTJ5	.|SAC1_HUMAN	T|Y	19|37	ENSP00000443373:P19T|ENSP00000373713:S37Y	ENSP00000411966:P19T|ENSP00000373713:S37Y	P|S	+|+	1|2	0|0	SACM1L|SACM1L	45720011|45720011	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.977000|0.977000	0.68977|0.68977	7.097000|7.097000	0.76967|0.76967	2.495000|2.495000	0.84180|0.84180	0.591000|0.591000	0.81541|0.81541	CCA|TCC		0.353	SACM1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345065.2	NM_014016		36	71	1	0	1.61863e-15	1	1.81067e-15	36	71					A	45745007	C	A	45745007	3	1	167	1	0	0	0	0	1	0	0	0	13803	855	30	5	116	5	SACM1L	3	45745007	Missense_Mutation	SNP	C	TCGA-G9-6366-01A-11D-2114-08	35782783	45745007	152277423	9	8014											
EXOC1	55763	broad.mit.edu	37	chr4	56762964	56762964	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttccatttgttgctgaatttGaagaatttgctggacttgca	9	17	9	6	0	0	3	0	2	0	1	1	4	1	4	1	1	3	4	1	1	3	6			TCGA-G9-6366-01A-11D-2114-08	TCGA-G9-6366-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0042c94-9802-4593-9dd8-4352538c6bc7	39351351-11d3-499d-8fec-7bf34f38d3c5	g.chr4:56762964G>C	ENST00000381295.2	+	16	2383	c.2035G>C	c.(2035-2037)Gaa>Caa	p.E679Q	EXOC1_ENST00000349598.6_Missense_Mutation_p.E664Q|EXOC1_ENST00000346134.7_Missense_Mutation_p.E679Q	NM_001024924.1	NP_001020095.1	Q9NV70	EXOC1_HUMAN	exocyst complex component 1	679					cellular protein metabolic process (GO:0044267)|exocytosis (GO:0006887)|membrane organization (GO:0061024)|protein transport (GO:0015031)	exocyst (GO:0000145)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	35	Glioma(25;0.08)|all_neural(26;0.101)					TGCTGAATTTGAAGAATTTGC	0.368																																						ENST00000381295.2																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	35						c.(2035-2037)Gaa>Caa		exocyst complex component 1							77	75	76					4																	56762964		2203	4300	6503	SO:0001583	missense	55763				exocytosis|protein transport	exocyst	protein binding	g.chr4:56762964G>C	AK027047	CCDS3502.1, CCDS3503.1	4q12	2013-01-22	2005-11-01	2005-11-01	ENSG00000090989	ENSG00000090989			30380	protein-coding gene	gene with protein product		607879	"SEC3-like 1 (S. cerevisiae)"	SEC3L1		11042152, 11406615	Standard	XM_005265747		Approved	SEC3, FLJ10893, BM-102, Sec3p	uc003hbf.1	Q9NV70	OTTHUMG00000102165	ENST00000381295.2:c.2035G>C	4.37:g.56762964G>C	ENSP00000370695:p.Glu679Gln					EXOC1_ENST00000349598.6_Missense_Mutation_p.E664Q|EXOC1_ENST00000346134.7_Missense_Mutation_p.E679Q	p.E679Q	NM_001024924.1	NP_001020095.1	Q9NV70	EXOC1_HUMAN			16	2383	+	Glioma(25;0.08)|all_neural(26;0.101)		679					Q504V4|Q8WUE7|Q96T15|Q9NZE4	Missense_Mutation	SNP	ENST00000381295.2	37	c.2035G>C	CCDS3502.1	.	.	.	.	.	.	.	.	.	.	G	29.0	4.966026	0.92855	.	.	ENSG00000090989	ENST00000381295;ENST00000346134;ENST00000349598	.	.	.	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	D	0.83092	0.5179	M	0.79258	2.445	0.80722	D	1	D;P	0.89917	1.0;0.909	D;P	0.83275	0.996;0.688	T	0.82422	-0.0465	9	0.48119	T	0.1	.	20.0137	0.97470	0.0:0.0:1.0:0.0	.	664;679	Q9NV70-2;Q9NV70	.;EXOC1_HUMAN	Q	679;679;664	.	ENSP00000326514:E679Q	E	+	1	0	EXOC1	56457721	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.476000	0.97823	2.734000	0.93682	0.563000	0.77884	GAA		0.368	EXOC1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361799.1	NM_018261		3	63	0	0	0	1	0	3	63					C	56762964	G	C	56762964	3	2	167	1	0	0	0	0	1	0	0	0	5301	1291	45	5	2093	5	EXOC1	4	56762964	Missense_Mutation	SNP	G	TCGA-G9-6366-01A-11D-2114-08		56762964	134391312	10	8015											
PDZD2	23037	broad.mit.edu	37	chr5	32089285	32089285	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgctgtgaaggctggggggAcggaccacaggaaacccttg	10	6	16	9	1	0	1	0	1	0	0	0	4	0	4	2	6	2	2	2	6	2	1			TCGA-G9-6366-01A-11D-2114-08	TCGA-G9-6366-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0042c94-9802-4593-9dd8-4352538c6bc7	39351351-11d3-499d-8fec-7bf34f38d3c5	g.chr5:32089285A>G	ENST00000438447.1	+	20	6119	c.5731A>G	c.(5731-5733)Acg>Gcg	p.T1911A	PDZD2_ENST00000282493.3_Missense_Mutation_p.T1911A			O15018	PDZD2_HUMAN	PDZ domain containing 2	1911					cell adhesion (GO:0007155)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|nucleus (GO:0005634)				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						GGCTGGGGGGACGGACCACAG	0.582																																						ENST00000438447.1																			0				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						c.(5731-5733)Acg>Gcg		PDZ domain containing 2							87	91	90					5																	32089285		2203	4300	6503	SO:0001583	missense	23037				cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus		g.chr5:32089285A>G	AB002298	CCDS34137.1	5p14.1	2008-02-05	2006-01-24	2006-01-24		ENSG00000133401			18486	protein-coding gene	gene with protein product		610697	"PDZ domain containing 3"	PDZK3		9205841	Standard	XM_005248271		Approved	KIAA0300	uc003jhm.3	O15018		ENST00000438447.1:c.5731A>G	5.37:g.32089285A>G	ENSP00000402033:p.Thr1911Ala					PDZD2_ENST00000282493.3_Missense_Mutation_p.T1911A	p.T1911A			O15018	PDZD2_HUMAN			20	6119	+			1911					Q9BXD4	Missense_Mutation	SNP	ENST00000438447.1	37	c.5731A>G	CCDS34137.1	.	.	.	.	.	.	.	.	.	.	A	11.93	1.786466	0.31593	.	.	ENSG00000133401	ENST00000438447;ENST00000382161;ENST00000282493	T;T	0.06849	3.25;3.25	5.42	-10.8	0.00216	.	2.256200	0.01793	N	0.032409	T	0.04679	0.0127	L	0.33485	1.01	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.31752	-0.9932	10	0.07990	T	0.79	.	6.2753	0.20977	0.1704:0.2236:0.5047:0.1013	.	1911	O15018	PDZD2_HUMAN	A	1911;1712;1911	ENSP00000402033:T1911A;ENSP00000282493:T1911A	ENSP00000282493:T1911A	T	+	1	0	PDZD2	32125042	0.000000	0.05858	0.000000	0.03702	0.028000	0.11728	-2.385000	0.01062	-2.381000	0.00594	-0.331000	0.08364	ACG		0.582	PDZD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366608.1			4	99	0	0	0	1	0	4	99					G	32089285	A	G	32089285	3	3	167	1	0	0	0	0	1	0	0	0	11701	275	10	4	5805	4	PDZD2	5	32089285	Missense_Mutation	SNP	A	TCGA-G9-6366-01A-11D-2114-08		32089285	148825975	11	8016											
NIPBL	25836	broad.mit.edu	37	chr5	37017250	37017250	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tggatcaaggatctatagaaCgcattttaaaacaggtacta	16	11	8	6	1	2	1	1	0	1	1	2	3	2	3	0	3	3	2	0	3	8	6	rs149451089		TCGA-G9-6366-01A-11D-2114-08	TCGA-G9-6366-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0042c94-9802-4593-9dd8-4352538c6bc7	39351351-11d3-499d-8fec-7bf34f38d3c5	g.chr5:37017250C>G	ENST00000282516.8	+	24	5405	c.4906C>G	c.(4906-4908)Cgc>Ggc	p.R1636G	NIPBL_ENST00000448238.2_Missense_Mutation_p.R1636G	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	1636					brain development (GO:0007420)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to X-ray (GO:0071481)|cognition (GO:0050890)|developmental growth (GO:0048589)|ear morphogenesis (GO:0042471)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic forelimb morphogenesis (GO:0035115)|embryonic viscerocranium morphogenesis (GO:0048703)|external genitalia morphogenesis (GO:0035261)|eye morphogenesis (GO:0048592)|face morphogenesis (GO:0060325)|fat cell differentiation (GO:0045444)|forelimb morphogenesis (GO:0035136)|gall bladder development (GO:0061010)|heart morphogenesis (GO:0003007)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|metanephros development (GO:0001656)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid cohesion (GO:0007064)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract morphogenesis (GO:0003151)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of ossification (GO:0045778)|regulation of developmental growth (GO:0048638)|regulation of embryonic development (GO:0045995)|regulation of hair cycle (GO:0042634)|sensory perception of sound (GO:0007605)|stem cell maintenance (GO:0019827)|uterus morphogenesis (GO:0061038)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMC loading complex (GO:0032116)	chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|histone deacetylase binding (GO:0042826)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			ATCTATAGAACGCATTTTAAA	0.333																																						ENST00000282516.8																			0				autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128						c.(4906-4908)Cgc>Ggc		Nipped-B homolog (Drosophila)							51	50	50					5																	37017250		2203	4300	6503	SO:0001583	missense	25836				brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding	g.chr5:37017250C>G	AB019494	CCDS3920.1, CCDS47198.1	5p13.2	2009-08-28			ENSG00000164190	ENSG00000164190			28862	protein-coding gene	gene with protein product	"sister chromatid cohesion 2 homolog (yeast)"	608667				15146186, 15146185	Standard	NM_133433		Approved	IDN3, DKFZp434L1319, FLJ11203, FLJ12597, FLJ13354, FLJ13648, Scc2	uc003jkl.4	Q6KC79	OTTHUMG00000090795	ENST00000282516.8:c.4906C>G	5.37:g.37017250C>G	ENSP00000282516:p.Arg1636Gly					NIPBL_ENST00000448238.2_Missense_Mutation_p.R1636G	p.R1636G	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)		24	5405	+	all_lung(31;0.000447)|Hepatocellular(1;0.108)		1636					Q6KCD6|Q6N080|Q6ZT92|Q7Z2E6|Q8N4M5|Q9Y6Y3|Q9Y6Y4	Missense_Mutation	SNP	ENST00000282516.8	37	c.4906C>G	CCDS3920.1	.	.	.	.	.	.	.	.	.	.	C	17.93	3.510051	0.64522	.	.	ENSG00000164190	ENST00000282516;ENST00000448238	T;T	0.65178	-0.14;-0.14	5.45	2.59	0.31030	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.70116	0.3187	M	0.71581	2.175	0.50632	D	0.999882	P;P	0.51147	0.903;0.942	P;P	0.54210	0.561;0.745	T	0.67465	-0.5664	10	0.25106	T	0.35	.	15.1455	0.72647	0.5027:0.4973:0.0:0.0	.	1636;1636	Q6KC79;Q6KC79-2	NIPBL_HUMAN;.	G	1636	ENSP00000282516:R1636G;ENSP00000406266:R1636G	ENSP00000282516:R1636G	R	+	1	0	NIPBL	37053007	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.809000	0.55606	0.309000	0.22966	0.585000	0.79938	CGC		0.333	NIPBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207582.1	NM_015384		8	34	0	0	0	1	0	8	34					G	37017250	C	G	37017250	3	3	167	1	0	0	0	0	1	0	0	0	10428	536	19	5	4996	5	NIPBL	5	37017250	Missense_Mutation	SNP	C	TCGA-G9-6366-01A-11D-2114-08	4927965	37017250	143898010	12	8017											
NSA2	10412	broad.mit.edu	37	chr5	74069862	74069862	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagcgaattgggccttgtgaCacaaggaggcaaagttattt	12	10	13	6	1	0	1	0	1	0	0	0	4	0	2	1	3	1	2	1	3	4	4			TCGA-G9-6366-01A-11D-2114-08	TCGA-G9-6366-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0042c94-9802-4593-9dd8-4352538c6bc7	39351351-11d3-499d-8fec-7bf34f38d3c5	g.chr5:74069862C>T	ENST00000296802.5	+	5	1061	c.692C>T	c.(691-693)aCa>aTa	p.T231I		NM_014886.3	NP_055701.1	O95478	NSA2_HUMAN	NSA2 ribosome biogenesis homolog (S. cerevisiae)	231					rRNA processing (GO:0006364)	nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(2)|kidney(1)|lung(1)|ovary(1)|skin(1)	7						GGCCTTGTGACACAAGGAGGC	0.383																																						ENST00000296802.5																			0				breast(1)|endometrium(2)|kidney(1)|lung(1)|ovary(1)|skin(1)	7						c.(691-693)aCa>aTa		NSA2 ribosome biogenesis homolog (S. cerevisiae)							99	94	96					5																	74069862		2203	4300	6503	SO:0001583	missense	10412				rRNA processing	nucleolus|ribonucleoprotein complex		g.chr5:74069862C>T	AF077615	CCDS4025.1, CCDS75260.1	5q13.3	2010-01-18			ENSG00000164346	ENSG00000164346			30728	protein-coding gene	gene with protein product	"hairy cell leukemia protein 1", "TGF beta-inducible nuclear protein 1"	612497				11124703, 10486207	Standard	NM_014886		Approved	HUSSY-29, HCLG1, FLJ94393, TINP1	uc003kdk.2	O95478	OTTHUMG00000131273	ENST00000296802.5:c.692C>T	5.37:g.74069862C>T	ENSP00000296802:p.Thr231Ile						p.T231I	NM_014886.3	NP_055701.1	O95478	NSA2_HUMAN			5	1061	+			231						Missense_Mutation	SNP	ENST00000296802.5	37	c.692C>T	CCDS4025.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.183491	0.78677	.	.	ENSG00000164346	ENST00000296802	T	0.52526	0.66	5.32	5.32	0.75619	.	0.044878	0.85682	D	0.000000	T	0.77336	0.4115	M	0.93241	3.395	0.80722	D	1	D	0.76494	0.999	D	0.68943	0.961	D	0.83584	0.0119	10	0.87932	D	0	.	19.3811	0.94536	0.0:1.0:0.0:0.0	.	231	O95478	NSA2_HUMAN	I	231	ENSP00000296802:T231I	ENSP00000296802:T231I	T	+	2	0	NSA2	74105618	1.000000	0.71417	0.998000	0.56505	0.580000	0.36256	7.388000	0.79795	2.645000	0.89757	0.650000	0.86243	ACA		0.383	NSA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254041.3	NM_014886		10	148	0	0	0	1	0	10	148					T	74069862	C	T	74069862	3	4	167	1	0	0	0	0	1	0	0	0	10668	478	17	3	710	3	NSA2	5	74069862	Missense_Mutation	SNP	C	TCGA-G9-6366-01A-11D-2114-08	37052612	74069862	106845398	13	8018											
AKAP12	9590	broad.mit.edu	37	chr6	151672836	151672836	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atgctcaggaggcaaaaactGagccttttacacaagggaag	15	7	11	8	0	1	1	1	1	0	0	1	3	1	3	1	3	4	2	1	3	5	2			TCGA-G9-6366-01A-11D-2114-08	TCGA-G9-6366-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0042c94-9802-4593-9dd8-4352538c6bc7	39351351-11d3-499d-8fec-7bf34f38d3c5	g.chr6:151672836G>C	ENST00000253332.1	+	3	3499	c.3310G>C	c.(3310-3312)Gag>Cag	p.E1104Q	AKAP12_ENST00000354675.6_Missense_Mutation_p.E1006Q|AKAP12_ENST00000359755.5_Missense_Mutation_p.E999Q|AKAP12_ENST00000402676.2_Missense_Mutation_p.E1104Q			Q02952	AKA12_HUMAN	A kinase (PRKA) anchor protein 12	1104					G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of protein kinase A signaling (GO:0010739)|protein targeting (GO:0006605)|regulation of protein kinase C signaling (GO:0090036)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)	adenylate cyclase binding (GO:0008179)|protein kinase A binding (GO:0051018)			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	68		Ovarian(120;0.125)	BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.98e-11)		GGCAAAAACTGAGCCTTTTAC	0.502																																					Melanoma(141;1616 1805 10049 24534 51979)	ENST00000402676.2																			0				breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	68						c.(3310-3312)Gag>Cag		A kinase (PRKA) anchor protein 12							46	47	47					6																	151672836		2203	4300	6503	SO:0001583	missense	9590				G-protein coupled receptor protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of protein kinase A signaling cascade|protein targeting	cell cortex|cytoskeleton|plasma membrane	adenylate cyclase binding|protein kinase A binding	g.chr6:151672836G>C	U81607	CCDS5229.1, CCDS5230.1	6q24-q25	2011-07-01	2008-08-29		ENSG00000131016	ENSG00000131016		"A-kinase anchor proteins"	370	protein-coding gene	gene with protein product	"gravin", "Src-Suppressed C Kinase Substrate"	604698	"A kinase (PRKA) anchor protein (gravin) 12"			9000000	Standard	NM_144497		Approved	AKAP250, SSeCKS	uc011eep.2	Q02952	OTTHUMG00000015833	ENST00000253332.1:c.3310G>C	6.37:g.151672836G>C	ENSP00000253332:p.Glu1104Gln					AKAP12_ENST00000359755.5_Missense_Mutation_p.E999Q|AKAP12_ENST00000253332.1_Missense_Mutation_p.E1104Q|AKAP12_ENST00000354675.6_Missense_Mutation_p.E1006Q	p.E1104Q	NM_005100.3	NP_005091.2	Q02952	AKA12_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.98e-11)	4	3550	+		Ovarian(120;0.125)	1104					O00310|O00498|Q4LE68|Q5SZ80|Q5TGN1|Q68D82|Q99970	Missense_Mutation	SNP	ENST00000253332.1	37	c.3310G>C	CCDS5229.1	.	.	.	.	.	.	.	.	.	.	G	17.10	3.302634	0.60195	.	.	ENSG00000131016	ENST00000402676;ENST00000253332;ENST00000354675;ENST00000359755	T;T;T;T	0.08807	3.05;3.05;3.07;3.07	5.06	5.06	0.68205	.	0.229628	0.22993	N	0.053165	T	0.07188	0.0182	L	0.36672	1.1	0.09310	N	0.999994	D;D;D	0.63880	0.993;0.993;0.988	P;P;P	0.57776	0.827;0.827;0.676	T	0.16512	-1.0400	10	0.45353	T	0.12	.	10.1311	0.42680	0.129:0.0:0.8709:0.0	.	999;1006;1104	Q02952-3;Q02952-2;Q02952	.;.;AKA12_HUMAN	Q	1104;1104;1006;999	ENSP00000384537:E1104Q;ENSP00000253332:E1104Q;ENSP00000346702:E1006Q;ENSP00000352794:E999Q	ENSP00000253332:E1104Q	E	+	1	0	AKAP12	151714529	0.015000	0.18098	0.015000	0.15790	0.029000	0.11900	1.649000	0.37281	2.356000	0.79943	0.455000	0.32223	GAG		0.502	AKAP12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042712.1			3	51	0	0	0	1	0	3	51					C	151672836	G	C	151672836	3	2	167	1	0	0	0	0	1	0	0	0	448	1291	45	5	3349	5	AKAP12	6	151672836	Missense_Mutation	SNP	G	TCGA-G9-6366-01A-11D-2114-08		151672836	19442231	14	8019											
FAM120B	84498	broad.mit.edu	37	chr6	170667405	170667405	+	Splice_Site	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcgcagcttgtaaatctacAggtacagacgtgaccagtta	12	10	9	10	2	1	2	0	1	1	1	2	2	1	2	1	1	3	5	1	1	5	5			TCGA-G9-6366-01A-11D-2114-08	TCGA-G9-6366-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0042c94-9802-4593-9dd8-4352538c6bc7	39351351-11d3-499d-8fec-7bf34f38d3c5	g.chr6:170667405A>T	ENST00000476287.1	+	6	2390	c.2282A>T	c.(2281-2283)cAg>cTg	p.Q761L	FAM120B_ENST00000540480.1_Splice_Site_p.Q773L|FAM120B_ENST00000537664.1_Splice_Site_p.Q784L|FAM120B_ENST00000252510.9_Splice_Site_p.Q93L	NM_032448.1	NP_115824.1	Q96EK7	F120B_HUMAN	family with sequence similarity 120B	761					cell differentiation (GO:0030154)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(1)|prostate(2)|skin(2)	44		Breast(66;0.000338)|Esophageal squamous(34;0.241)		OV - Ovarian serous cystadenocarcinoma(33;3.94e-22)|BRCA - Breast invasive adenocarcinoma(81;6.47e-06)|GBM - Glioblastoma multiforme(31;0.0899)		GTAAATCTACAGGTACAGACG	0.493																																						ENST00000476287.1																			0				endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(1)|prostate(2)|skin(2)	44						c.e6+1		family with sequence similarity 120B							70	54	59					6																	170667405		2203	4300	6503	SO:0001630	splice_region_variant	84498				cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	g.chr6:170667405A>T	AB058741	CCDS5314.1, CCDS75555.1	6q27	2011-04-13	2006-07-04	2006-07-04	ENSG00000112584	ENSG00000112584			21109	protein-coding gene	gene with protein product	"PPARgamma constitutive coactivator 1", "constitutive coactivator of PPAR-gamma"	612266	"KIAA1838"	KIAA1838		14585507	Standard	NM_032448		Approved	PGCC1, CCPG	uc003qxp.3	Q96EK7	OTTHUMG00000016080	ENST00000476287.1:c.2283+1A>T	6.37:g.170667405A>T						FAM120B_ENST00000540480.1_Splice_Site_p.Q773_splice|FAM120B_ENST00000537664.1_Splice_Site_p.Q784_splice|FAM120B_ENST00000252510.9_Splice_Site_p.Q93_splice	p.Q761_splice	NM_032448.1	NP_115824.1	Q96EK7	F120B_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;3.94e-22)|BRCA - Breast invasive adenocarcinoma(81;6.47e-06)|GBM - Glioblastoma multiforme(31;0.0899)	6	2390	+		Breast(66;0.000338)|Esophageal squamous(34;0.241)	761					B4DL34|Q86V68|Q96JI9	Splice_Site	SNP	ENST00000476287.1	37	c.2283_splice	CCDS5314.1	.	.	.	.	.	.	.	.	.	.	A	15.68	2.904566	0.52333	.	.	ENSG00000112584	ENST00000540480;ENST00000537664;ENST00000476287;ENST00000252510	T;T;T;T	0.42900	0.96;0.96;0.96;0.96	4.35	4.35	0.52113	.	0.219510	0.40064	N	0.001181	T	0.46425	0.1392	M	0.74258	2.255	0.80722	D	1	D;D	0.64830	0.994;0.993	P;P	0.55824	0.785;0.599	T	0.54430	-0.8295	10	0.72032	D	0.01	-14.3639	11.3471	0.49567	1.0:0.0:0.0:0.0	.	761;761	Q96EK7;F2Z2E1	F120B_HUMAN;.	L	773;784;761;93	ENSP00000444125:Q773L;ENSP00000440125:Q784L;ENSP00000417970:Q761L;ENSP00000252510:Q93L	ENSP00000252510:Q93L	Q	+	2	0	FAM120B	170509330	1.000000	0.71417	0.955000	0.39395	0.087000	0.18053	4.734000	0.62043	1.737000	0.51674	0.533000	0.62120	CAG		0.493	FAM120B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000043259.2	NM_032448	Missense_Mutation	5	17	0	0	0	1	0	5	17					T	170667405	A	T	170667405	5	4	167	1	0	0	0	0	0	0	1	0	5417	202	7	5	2300	5	FAM120B	6	170667405	Splice_Site	SNP	A	TCGA-G9-6366-01A-11D-2114-08	18994569	170667405	447662	15	8020											
TRPV6	55503	broad.mit.edu	37	chr7	142572878	142572878	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aatgacagtcaccagctcccCgaccagccggatatcgtcct	10	7	8	16	3	1	1	1	1	0	0	4	3	3	2	6	1	2	1	6	1	2	1			TCGA-G9-6366-01A-11D-2114-08	TCGA-G9-6366-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0042c94-9802-4593-9dd8-4352538c6bc7	39351351-11d3-499d-8fec-7bf34f38d3c5	g.chr7:142572878C>A	ENST00000359396.3	-	9	1407	c.1162G>T	c.(1162-1164)Ggg>Tgg	p.G388W	RP11-114L10.2_ENST00000438839.1_RNA	NM_018646.3	NP_061116	Q9H1D0	TRPV6_HUMAN	transient receptor potential cation channel, subfamily V, member 6	388					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|regulation of calcium ion-dependent exocytosis (GO:0017158)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|calmodulin binding (GO:0005516)			breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	42	Melanoma(164;0.059)					ACCAGCTCCCCGACCAGCCGG	0.567																																						ENST00000359396.3																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	42						c.(1162-1164)Ggg>Tgg		transient receptor potential cation channel, subfamily V, member 6							129	116	121					7																	142572878		2203	4300	6503	SO:0001583	missense	55503				regulation of calcium ion-dependent exocytosis	integral to plasma membrane	calcium channel activity|calmodulin binding	g.chr7:142572878C>A	AJ277909	CCDS5874.1	7q34	2013-01-10	2002-01-29	2002-02-01	ENSG00000165125	ENSG00000165125		"Voltage-gated ion channels / Transient receptor potential cation channels", "Ankyrin repeat domain containing"	14006	protein-coding gene	gene with protein product		606680	"epithelial calcium channel 2"	ECAC2		11097838, 11549322, 16382100, 16717058	Standard	NM_018646		Approved	CaT1	uc003wbx.2	Q9H1D0	OTTHUMG00000157158	ENST00000359396.3:c.1162G>T	7.37:g.142572878C>A	ENSP00000352358:p.Gly388Trp						p.G388W	NM_018646.3	NP_061116.2	Q9H1D0	TRPV6_HUMAN			9	1407	-	Melanoma(164;0.059)		388					A4D2I8|Q8TDL3|Q8WXR8|Q96LC5|Q9H1D1|Q9H296	Missense_Mutation	SNP	ENST00000359396.3	37	c.1162G>T	CCDS5874.1	.	.	.	.	.	.	.	.	.	.	C	19.78	3.891264	0.72524	.	.	ENSG00000165125	ENST00000359396;ENST00000311470;ENST00000436401	D;D	0.86562	-2.14;-2.14	4.74	4.74	0.60224	.	0.051806	0.85682	D	0.000000	D	0.94739	0.8302	M	0.92026	3.265	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95101	0.8230	10	0.52906	T	0.07	-33.3862	17.2508	0.87042	0.0:1.0:0.0:0.0	.	388	Q9H1D0	TRPV6_HUMAN	W	388;220;11	ENSP00000352358:G388W;ENSP00000411100:G11W	ENSP00000310825:G220W	G	-	1	0	TRPV6	142283000	1.000000	0.71417	1.000000	0.80357	0.569000	0.35902	7.191000	0.77763	2.634000	0.89283	0.561000	0.74099	GGG		0.567	TRPV6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347662.1	NM_014274		3	129	1	0	1	1	1	3	129					A	142572878	C	A	142572878	3	1	167	1	0	0	0	0	1	0	0	0	16597	652	23	5	1043	5	TRPV6	7	142572878	Missense_Mutation	SNP	C	TCGA-G9-6366-01A-11D-2114-08		142572878	16565785	16	8021											
TEX15	56154	broad.mit.edu	37	chr8	30694423	30694423	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	attgtgaaaaaattggctgcCgaaaattagaagcaggtatt	16	11	10	4	1	0	2	0	1	0	1	0	3	0	2	1	2	2	3	1	2	8	5			TCGA-G9-6366-01A-11D-2114-08	TCGA-G9-6366-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0042c94-9802-4593-9dd8-4352538c6bc7	39351351-11d3-499d-8fec-7bf34f38d3c5	g.chr8:30694423C>T	ENST00000256246.2	-	3	8302	c.8228G>A	c.(8227-8229)cGg>cAg	p.R2743Q		NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	2743					fertilization (GO:0009566)|homeostasis of number of cells within a tissue (GO:0048873)|male genitalia development (GO:0030539)|male meiosis (GO:0007140)|protein localization to chromosome (GO:0034502)|regulation of double-strand break repair via homologous recombination (GO:0010569)|regulation of protein localization (GO:0032880)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)					NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		AATTGGCTGCCGAAAATTAGA	0.408																																						ENST00000256246.2																			0				NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138						c.(8227-8229)cGg>cAg		testis expressed 15							102	107	105					8																	30694423		2203	4300	6503	SO:0001583	missense	56154							g.chr8:30694423C>T	AF285605	CCDS6080.1	8p22	2009-03-25	2007-03-13			ENSG00000133863			11738	protein-coding gene	gene with protein product	"cancer/testis antigen 42"	605795	"testis expressed sequence 15"			11279525	Standard	NM_031271		Approved	CT42	uc003xil.3	Q9BXT5		ENST00000256246.2:c.8228G>A	8.37:g.30694423C>T	ENSP00000256246:p.Arg2743Gln						p.R2743Q	NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)	3	8302	-			2743						Missense_Mutation	SNP	ENST00000256246.2	37	c.8228G>A	CCDS6080.1	.	.	.	.	.	.	.	.	.	.	c	0.171	-1.071451	0.01918	.	.	ENSG00000133863	ENST00000256246	T	0.08193	3.12	5.44	1.38	0.22167	.	0.296985	0.24576	N	0.037354	T	0.02610	0.0079	N	0.01168	-0.975	0.19775	N	0.999953	B	0.02656	0.0	B	0.01281	0.0	T	0.40478	-0.9561	10	0.87932	D	0	.	6.1762	0.20444	0.0:0.0852:0.3031:0.6117	.	2743	Q9BXT5	TEX15_HUMAN	Q	2743	ENSP00000256246:R2743Q	ENSP00000256246:R2743Q	R	-	2	0	TEX15	30813965	1.000000	0.71417	1.000000	0.80357	0.180000	0.23129	1.064000	0.30579	0.414000	0.25790	-0.295000	0.09555	CGG		0.408	TEX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376193.1			6	138	0	0	0	1	0	6	138					T	30694423	C	T	30694423	3	4	167	1	0	0	0	0	1	0	0	0	15776	652	23	2	149	2	TEX15	8	30694423	Missense_Mutation	SNP	C	TCGA-G9-6366-01A-11D-2114-08		30694423	115669599	17	8022											
KIAA1429	25962	broad.mit.edu	37	chr8	95549369	95549369	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gatgatggaagtattctcatCatattccaggctgtcaagag	12	12	10	7	0	3	2	3	1	1	1	5	4	4	3	1	2	0	2	1	2	4	4			TCGA-G9-6366-01A-11D-2114-08	TCGA-G9-6366-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0042c94-9802-4593-9dd8-4352538c6bc7	39351351-11d3-499d-8fec-7bf34f38d3c5	g.chr8:95549369C>G	ENST00000297591.5	-	4	352	c.277G>C	c.(277-279)Gat>Cat	p.D93H	KIAA1429_ENST00000437199.1_Missense_Mutation_p.D93H|RP11-267M23.3_ENST00000521010.1_RNA|KIAA1429_ENST00000421249.2_Missense_Mutation_p.D93H	NM_015496.4	NP_056311.2	Q69YN4	VIR_HUMAN	KIAA1429	93					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(16)|lung(28)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	66	Breast(36;3.29e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00185)			GTATTCTCATCATATTCCAGG	0.333																																						ENST00000297591.5																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(16)|lung(28)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	66						c.(277-279)Gat>Cat		KIAA1429							106	103	104					8																	95549369		2203	4300	6503	SO:0001583	missense	25962				mRNA processing|RNA splicing	nucleus		g.chr8:95549369C>G	AB037850	CCDS34923.1, CCDS47894.1	8q22.1	2008-11-25			ENSG00000164944	ENSG00000164944			24500	protein-coding gene	gene with protein product	"functional spliceosome-associated protein 121"					10718198	Standard	NM_015496		Approved	DKFZP434I116, fSAP121	uc003ygo.2	Q69YN4	OTTHUMG00000164426	ENST00000297591.5:c.277G>C	8.37:g.95549369C>G	ENSP00000297591:p.Asp93His					KIAA1429_ENST00000421249.2_Missense_Mutation_p.D93H|KIAA1429_ENST00000437199.1_Missense_Mutation_p.D93H	p.D93H	NM_015496.4	NP_056311.2	Q69YN4	VIR_HUMAN	BRCA - Breast invasive adenocarcinoma(8;0.00185)		4	352	-	Breast(36;3.29e-05)		93					Q2M1N0|Q6AHX9|Q6NT78|Q7Z6C7|Q8IXH4|Q9BTH4|Q9H9C9|Q9NWR3|Q9P2B8|Q9UFW1	Missense_Mutation	SNP	ENST00000297591.5	37	c.277G>C	CCDS34923.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.170322	0.78452	.	.	ENSG00000164944	ENST00000297591;ENST00000437199;ENST00000421249	T;T;T	0.46819	0.87;0.86;0.86	5.14	5.14	0.70334	.	0.000000	0.85682	D	0.000000	T	0.63165	0.2488	L	0.44542	1.39	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.997	T	0.64015	-0.6506	10	0.52906	T	0.07	-17.5006	18.5965	0.91231	0.0:1.0:0.0:0.0	.	93;93	Q69YN4-4;Q69YN4	.;VIR_HUMAN	H	93	ENSP00000297591:D93H;ENSP00000395600:D93H;ENSP00000398390:D93H	ENSP00000297591:D93H	D	-	1	0	KIAA1429	95618545	1.000000	0.71417	1.000000	0.80357	0.769000	0.43574	7.400000	0.79949	2.387000	0.81309	0.467000	0.42956	GAT		0.333	KIAA1429-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378720.2	NM_015496		4	145	0	0	0	1	0	4	145					G	95549369	C	G	95549369	3	3	167	1	0	0	0	0	1	0	0	0	8231	826	29	5	5299	5	KIAA1429	8	95549369	Missense_Mutation	SNP	C	TCGA-G9-6366-01A-11D-2114-08	64854946	95549369	50814653	18	8023											
DENND3	22898	broad.mit.edu	37	chr8	142178473	142178473	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agcgagatcctggacaagccGcacgaggcctcgaagctgga	11	4	14	12	4	0	1	0	0	0	1	2	6	1	3	3	3	3	2	3	3	2	0	rs201413933		TCGA-G9-6366-01A-11D-2114-08	TCGA-G9-6366-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0042c94-9802-4593-9dd8-4352538c6bc7	39351351-11d3-499d-8fec-7bf34f38d3c5	g.chr8:142178473G>A	ENST00000262585.2	+	13	2162	c.1884G>A	c.(1882-1884)ccG>ccA	p.P628P	DENND3_ENST00000519811.1_Silent_p.P708P|DENND3_ENST00000424248.1_Silent_p.P576P	NM_014957.2	NP_055772.2	A2RUS2	DEND3_HUMAN	DENN/MADD domain containing 3	628					cellular protein catabolic process (GO:0044257)|endosome to lysosome transport (GO:0008333)|positive regulation of Rab GTPase activity (GO:0032851)		Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(4)|stomach(2)|urinary_tract(1)	55	all_cancers(97;7.36e-15)|all_epithelial(106;2.33e-13)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.105)			TGGACAAGCCGCACGAGGCCT	0.612													G|||	1	0.000199681	0	0	5008	,	,		19138	0.001		0	False		,,,				2504	0					ENST00000519811.1																			0				breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(4)|stomach(2)|urinary_tract(1)	55						c.(2122-2124)ccG>ccA		DENN/MADD domain containing 3		G		0,4406		0,0,2203	66	67	67		1884	-11.1	0	8		67	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	DENND3	NM_014957.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		628/1199	142178473	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	22898							g.chr8:142178473G>A	AB020677	CCDS34947.1	8q24.3	2013-01-10				ENSG00000105339		"DENN/MADD domain containing", "WD repeat domain containing"	29134	protein-coding gene	gene with protein product						10048485	Standard	NM_014957		Approved	KIAA0870	uc003yvy.3	A2RUS2		ENST00000262585.2:c.1884G>A	8.37:g.142178473G>A						DENND3_ENST00000262585.2_Silent_p.P628P|DENND3_ENST00000424248.1_Silent_p.P576P	p.P708P			A2RUS2	DEND3_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.105)		13	2194	+	all_cancers(97;7.36e-15)|all_epithelial(106;2.33e-13)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		628					B7ZM28|O94947|Q2TAM7|Q6ZMS6|Q96DK3	Silent	SNP	ENST00000262585.2	37	c.2124G>A	CCDS34947.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	0.628	-0.818414	0.02776	0.0	1.16E-4	ENSG00000105339	ENST00000518668	.	.	.	5.56	-11.1	0.00147	.	.	.	.	.	T	0.32164	0.0820	.	.	.	0.34995	D	0.755431	.	.	.	.	.	.	T	0.26744	-1.0094	4	.	.	.	-6.023	3.4795	0.07597	0.2045:0.317:0.3396:0.1389	.	.	.	.	T	633	.	.	A	+	1	0	DENND3	142247655	0.000000	0.05858	0.000000	0.03702	0.016000	0.09150	-0.568000	0.05909	-1.958000	0.01019	0.462000	0.41574	GCA		0.612	DENND3-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_014957		30	50	0	0	0	1	0	30	50					A	142178473	G	A	142178473	2	1	167	1	0	0	0	0	0	0	0	1	4432	1074	38	1		1	DENND3	8	142178473	Silent	SNP	G	TCGA-G9-6366-01A-11D-2114-08	46629104	142178473	4185549	19	8024											
EPPK1	83481	broad.mit.edu	37	chr8	144940608	144940608	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttgcgcacggggtcgatgaCgaagccggtggccgcctgcg	5	6	18	12	7	0	1	0	1	0	0	1	3	0	1	3	4	3	2	3	4	1	1	rs377487212	byFrequency	TCGA-G9-6366-01A-11D-2114-08	TCGA-G9-6366-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0042c94-9802-4593-9dd8-4352538c6bc7	39351351-11d3-499d-8fec-7bf34f38d3c5	g.chr8:144940608C>T	ENST00000525985.1	-	2	6885	c.6814G>A	c.(6814-6816)Gtc>Atc	p.V2272I				P58107	EPIPL_HUMAN	epiplakin 1	2272						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	poly(A) RNA binding (GO:0044822)	p.V2272I(1)		NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GGGTCGATGACGAAGCCGGTG	0.716													C|||	3	0.000599042	0.0015	0.0014	5008	,	,		65703	0		0	False		,,,				2504	0					ENST00000525985.1																			1	Substitution - Missense(1)	p.V2272I(1)	central_nervous_system(1)	NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						c.(6814-6816)Gtc>Atc		epiplakin 1		C	ILE/VAL	2,4322		0,2,2160	43	41	41		6814	-1.3	1	8		41	7,8473		0,7,4233	no	missense	EPPK1	NM_031308.1	29	0,9,6393	TT,TC,CC		0.0825,0.0463,0.0703	benign	2272/2420	144940608	9,12795	2162	4240	6402	SO:0001583	missense	83481					cytoplasm|cytoskeleton	protein binding|structural molecule activity	g.chr8:144940608C>T	AB051895	CCDS75800.1	8q24.3	2014-09-17				ENSG00000261150			15577	protein-coding gene	gene with protein product	"epidermal autoantigen 450K"	607553				11278896, 15671067	Standard	NM_031308		Approved	EPIPL1	uc003zaa.1	P58107		ENST00000525985.1:c.6814G>A	8.37:g.144940608C>T	ENSP00000436337:p.Val2272Ile						p.V2272I			P58107	EPIPL_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		2	6885	-	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		2272					Q76E58|Q9NSU9	Missense_Mutation	SNP	ENST00000525985.1	37	c.6814G>A		.	.	.	.	.	.	.	.	.	.	C	5.870	0.344685	0.11126	4.63E-4	8.25E-4	ENSG00000227184	ENST00000525985	T	0.63580	-0.05	4.63	-1.32	0.09201	.	.	.	.	.	T	0.23451	0.0567	N	0.00991	-1.07	0.29726	N	0.838232	B	0.24963	0.115	B	0.29598	0.104	T	0.36601	-0.9741	9	0.02654	T	1	.	4.9377	0.13948	0.0:0.4183:0.2731:0.3086	.	2272	E9PPU0	.	I	2272	ENSP00000436337:V2272I	ENSP00000436337:V2272I	V	-	1	0	EPPK1	145012596	0.000000	0.05858	0.985000	0.45067	0.968000	0.65278	-2.308000	0.01131	-0.505000	0.06568	-0.236000	0.12185	GTC		0.716	EPPK1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000382675.1	NM_031308		5	41	0	0	0	1	0	5	41					T	144940608	C	T	144940608	3	4	167	1	0	0	0	0	1	0	0	0	5190	536	19	1	452	1	EPPK1	8	144940608	Missense_Mutation	SNP	C	TCGA-G9-6366-01A-11D-2114-08	2762135	144940608	1423414	20	8025											
PTEN	5728	broad.mit.edu	37	chr10	89717713	89717715	+	In_Frame_Del	DEL	GTT	GTT	-																															tactttgagttccctcagccGttacctgtgtgtggtgatat																								rs587782341		TCGA-G9-6366-01A-11D-2114-08	TCGA-G9-6366-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0042c94-9802-4593-9dd8-4352538c6bc7	39351351-11d3-499d-8fec-7bf34f38d3c5	g.chr10:89717713_89717715delGTT	ENST00000371953.3	+	7	2095_2097	c.738_740delGTT	c.(736-741)ccgtta>cca	p.L247del	PTEN_ENST00000472832.1_3'UTR	NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	247	C2 tensin-type. {ECO:0000255|PROSITE- ProRule:PRU00589}.				activation of mitotic anaphase-promoting complex activity (GO:0007092)|aging (GO:0007568)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|brain morphogenesis (GO:0048854)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle tissue development (GO:0048738)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|central nervous system myelin maintenance (GO:0032286)|central nervous system neuron axonogenesis (GO:0021955)|dendritic spine morphogenesis (GO:0060997)|dentate gyrus development (GO:0021542)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|innate immune response (GO:0045087)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|learning or memory (GO:0007611)|locomotor rhythm (GO:0045475)|locomotory behavior (GO:0007626)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|male mating behavior (GO:0060179)|maternal behavior (GO:0042711)|memory (GO:0007613)|multicellular organismal response to stress (GO:0033555)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell aging (GO:0090344)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031658)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myelination (GO:0031642)|negative regulation of organ growth (GO:0046621)|negative regulation of phagocytosis (GO:0050765)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of ribosome biogenesis (GO:0090071)|negative regulation of synaptic vesicle clustering (GO:2000808)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell proliferation (GO:0008284)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|postsynaptic density assembly (GO:0097107)|prepulse inhibition (GO:0060134)|presynaptic membrane assembly (GO:0097105)|prostate gland growth (GO:0060736)|protein dephosphorylation (GO:0006470)|protein kinase B signaling (GO:0043491)|protein stabilization (GO:0050821)|regulation of B cell apoptotic process (GO:0002902)|regulation of cellular component size (GO:0032535)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of neuron projection development (GO:0010975)|regulation of protein stability (GO:0031647)|response to arsenic-containing substance (GO:0046685)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse maturation (GO:0060074)|T cell receptor signaling pathway (GO:0050852)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|myelin sheath adaxonal region (GO:0035749)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)	anaphase-promoting complex binding (GO:0010997)|enzyme binding (GO:0019899)|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity (GO:0051717)|lipid binding (GO:0008289)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity (GO:0051800)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.0?(37)|p.R55fs*1(5)|p.P246fs*10(3)|p.L247fs*10(2)|p.N212fs*1(2)|p.Y27fs*1(2)|p.L247*(2)|p.L247fs*11(1)|p.L247fs*12(1)|p.G165_*404del(1)|p.L247fs*6(1)|p.?(1)|p.L247fs*5(1)|p.F243fs*9(1)|p.L247fs*8(1)|p.L247fs*4(1)|p.P246_L247insGP(1)|p.L247L(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		TCCCTCAGCCGTTACCTGTGTGT	0.409		31	"D, Mis, N, F, S"		"glioma,  prostate, endometrial"	"harmartoma, glioma,  prostate, endometrial"			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																												ENST00000371953.3		31	yes	Rec	yes	"Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"	10	10q23.3	5728	"D, Mis, N, F, S"	phosphatase and tensin homolog gene			"L, E, M, O"		"harmartoma, glioma,  prostate, endometrial"	"glioma,  prostate, endometrial"		64	Whole gene deletion(37)|Deletion - Frameshift(14)|Insertion - Frameshift(7)|Substitution - Nonsense(2)|Deletion - In frame(1)|Insertion - In frame(1)|Unknown(1)|Substitution - coding silent(1)	p.0?(37)|p.R55fs*1(5)|p.P246fs*10(3)|p.L247fs*10(2)|p.N212fs*1(2)|p.Y27fs*1(2)|p.L247*(2)|p.L247fs*11(1)|p.L247fs*12(1)|p.G165_*404del(1)|p.L247fs*6(1)|p.?(1)|p.L247fs*5(1)|p.F243fs*9(1)|p.L247fs*8(1)|p.L247fs*4(1)|p.P246_L247insGP(1)|p.L247L(1)	prostate(16)|haematopoietic_and_lymphoid_tissue(12)|central_nervous_system(10)|skin(6)|endometrium(5)|lung(4)|breast(4)|ovary(3)|urinary_tract(2)|soft_tissue(1)|pancreas(1)	NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771						c.(736-741)cca>cc		phosphatase and tensin homolog																																				SO:0001651	inframe_deletion	5728	Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	Familial Cancer Database	Incl.: Encephalocraniocutaneous Lipomatosis, ECCL, Proteus-like s.;incl.: Juvenile Polyposis of the Stomach;HMPS1, Colorectal Adenoma Carcinoma syndrome, CRAC, CRAC1;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;subset of PTEN-Hamartoma Tumor Syndrome; incl.: Ruvalcaba-Myhre-Smith s.	activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr10:89717713_89717715delGTT	U92436	CCDS31238.1	10q23	2014-09-17	2008-07-31		ENSG00000171862	ENSG00000171862		"Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"	9588	protein-coding gene	gene with protein product	"mutated in multiple advanced cancers 1"	601728		BZS, MHAM		9090379	Standard	NM_000314		Approved	MMAC1, TEP1, PTEN1	uc001kfb.3	P60484	OTTHUMG00000018688	ENST00000371953.3:c.738_740delGTT	10.37:g.89717713_89717715delGTT	ENSP00000361021:p.Leu247del	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)				PTEN_ENST00000472832.1_3'UTR	p.PL246del	NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)	7	2095_2097	+		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	246		P -> L (in CD and BZS).	C2 tensin-type.		B2R904|F2YHV0|O00633|O02679|Q6ICT7	In_Frame_Del	DEL	ENST00000371953.3	37	c.738_740delGTT	CCDS31238.1																																																																																				0.409	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1	NM_000314		28	89						28	89	---	---	---	---	-	89717715	GTT	-	89717713	7	5	167	1	0	1	0	1	0	0	0	0	12738	1132	40	0	764	0	PTEN	10	89717713	In_Frame_Del	DEL	GTT	TCGA-G9-6366-01A-11D-2114-08		89717713	45817034	21	8026											
PLCZ1	89869	broad.mit.edu	37	chr12	18872504	18872504	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acattcatttttaaacagtaGacattcacgtgaatccatgt	14	14	5	8	1	2	2	2	1	0	1	3	2	3	2	1	0	1	1	1	0	4	6	rs140550681		TCGA-G9-6366-01A-11D-2114-08	TCGA-G9-6366-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0042c94-9802-4593-9dd8-4352538c6bc7	39351351-11d3-499d-8fec-7bf34f38d3c5	g.chr12:18872504G>C	ENST00000266505.7	-	5	693	c.430C>G	c.(430-432)Cta>Gta	p.L144V	PLCZ1_ENST00000447925.2_Missense_Mutation_p.L142V|PLCZ1_ENST00000435379.1_Intron|PLCZ1_ENST00000541695.1_Missense_Mutation_p.L7V|RP11-361I14.2_ENST00000536931.1_RNA|PLCZ1_ENST00000539875.1_Intron					phospholipase C, zeta 1											NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	31	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)					TTAAACAGTAGACATTCACGT	0.264																																						ENST00000447925.2																			0				NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	31						c.(424-426)Cta>Gta		phospholipase C, zeta 1							52	53	52					12																	18872504		2202	4282	6484	SO:0001583	missense	89869				intracellular signal transduction|lipid catabolic process|multicellular organismal development	nucleus|perinuclear region of cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr12:18872504G>C	AY035866	CCDS8680.1	12p13.31	2013-01-10			ENSG00000139151	ENSG00000139151	3.1.4.11	"EF-hand domain containing"	19218	protein-coding gene	gene with protein product		608075				12117804	Standard	NM_033123		Approved	NYD-SP27, PLCzeta	uc021qvx.2	Q86YW0	OTTHUMG00000168937	ENST00000266505.7:c.430C>G	12.37:g.18872504G>C	ENSP00000266505:p.Leu144Val					PLCZ1_ENST00000541695.1_Missense_Mutation_p.L7V|PLCZ1_ENST00000435379.1_Intron|PLCZ1_ENST00000539875.1_Intron|RP11-361I14.2_ENST00000536931.1_RNA|PLCZ1_ENST00000266505.7_Missense_Mutation_p.L144V	p.L142V	NM_033123.2	NP_149114.2	Q86YW0	PLCZ1_HUMAN			5	693	-	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)		144						Missense_Mutation	SNP	ENST00000266505.7	37	c.424C>G	CCDS8680.1	.	.	.	.	.	.	.	.	.	.	G	2.456	-0.325151	0.05350	.	.	ENSG00000139151	ENST00000266505;ENST00000447925;ENST00000541695;ENST00000541966	T;T;T;T	0.27402	2.3;2.3;1.67;2.3	5.28	4.3	0.51218	Phospholipase C, phosphoinositol-specific, EF-hand-like (1);EF-hand-like domain (1);	0.563717	0.18609	N	0.136210	T	0.28732	0.0712	M	0.76574	2.34	0.09310	N	1	P	0.41498	0.752	B	0.42462	0.388	T	0.25082	-1.0142	10	0.17832	T	0.49	.	0.2114	0.00156	0.2431:0.2396:0.2746:0.2427	.	144	Q86YW0	PLCZ1_HUMAN	V	144;142;7;40	ENSP00000266505:L144V;ENSP00000402358:L142V;ENSP00000443349:L7V;ENSP00000444383:L40V	ENSP00000266505:L144V	L	-	1	2	PLCZ1	18763771	0.002000	0.14202	0.501000	0.27601	0.073000	0.16967	0.722000	0.25925	1.131000	0.42111	0.591000	0.81541	CTA		0.264	PLCZ1-001	KNOWN	NAGNAG_splice_site|non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000401667.3	NM_033123		16	40	0	0	0	1	0	16	40					C	18872504	G	C	18872504	3	2	167	1	0	0	0	0	1	0	0	0	12044	933	33	5	1440	5	PLCZ1	12	18872504	Missense_Mutation	SNP	G	TCGA-G9-6366-01A-11D-2114-08		18872504	114979391	22	8027											
KRT18	3875	broad.mit.edu	37	chr12	53344130	53344156	+	In_Frame_Del	DEL	GACAATGCCCGCATCGTTCTGCAGATT	GACAATGCCCGCATCGTTCTGCAGATT	-																															agatcttcgcaaatactgtgGacaatgcccgcatcgttctg																								rs59979366|rs200694483|rs370728079	byFrequency	TCGA-G9-6366-01A-11D-2114-08	TCGA-G9-6366-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0042c94-9802-4593-9dd8-4352538c6bc7	39351351-11d3-499d-8fec-7bf34f38d3c5	g.chr12:53344130_53344156delGACAATGCCCGCATCGTTCTGCAGATT	ENST00000388835.3	+	2	646_672	c.436_462delGACAATGCCCGCATCGTTCTGCAGATT	c.(436-462)gacaatgcccgcatcgttctgcagattdel	p.DNARIVLQI146del	KRT8_ENST00000552551.1_5'Flank|AC107016.2_ENST00000581256.1_RNA|KRT18_ENST00000550600.1_In_Frame_Del_p.DNARIVLQI146del|KRT8_ENST00000549198.1_5'Flank|KRT18_ENST00000388837.2_In_Frame_Del_p.DNARIVLQI146del|KRT8_ENST00000546897.1_5'Flank	NM_000224.2	NP_000215.1	P05783	K1C18_HUMAN	keratin 18	146	Coil 1B.|Necessary for interaction with PNN.|Rod.				anatomical structure morphogenesis (GO:0009653)|cell cycle (GO:0007049)|extrinsic apoptotic signaling pathway (GO:0097191)|Golgi to plasma membrane CFTR protein transport (GO:0043000)|hepatocyte apoptotic process (GO:0097284)|intermediate filament cytoskeleton organization (GO:0045104)|negative regulation of apoptotic process (GO:0043066)|tumor necrosis factor-mediated signaling pathway (GO:0033209)|viral process (GO:0016032)	cell periphery (GO:0071944)|centriolar satellite (GO:0034451)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)|microtubule organizing center (GO:0005815)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|scaffold protein binding (GO:0097110)|structural molecule activity (GO:0005198)			central_nervous_system(1)|large_intestine(2)|lung(4)|prostate(3)|skin(1)	11						AAATACTGTGGACAATGCCCGCATCGTTCTGCAGATTGACAATGCCC	0.498																																						ENST00000550600.1																			0				central_nervous_system(1)|large_intestine(2)|lung(4)|prostate(3)|skin(1)	11	GRCh37	CM057881	KRT18	M	rs59979366	c.(436-462)del		keratin 18																																				SO:0001651	inframe_deletion	3875				anatomical structure morphogenesis|cell cycle|Golgi to plasma membrane CFTR protein transport|interspecies interaction between organisms|negative regulation of apoptosis	centriolar satellite|keratin filament|perinuclear region of cytoplasm	protein binding|structural molecule activity	g.chr12:53344130_53344156delGACAATGCCCGCATCGTTCTGCAGATT		CCDS31809.1	12q13	2013-01-16			ENSG00000111057	ENSG00000111057		"-", "Intermediate filaments type I, keratins (acidic)"	6430	protein-coding gene	gene with protein product		148070				1705144, 16831889	Standard	NM_000224		Approved		uc001sbg.3	P05783	OTTHUMG00000169882	ENST00000388835.3:c.436_462delGACAATGCCCGCATCGTTCTGCAGATT	12.37:g.53344130_53344156delGACAATGCCCGCATCGTTCTGCAGATT	ENSP00000373487:p.Asp146_Ile154del					KRT18_ENST00000388835.3_In_Frame_Del_p.DNARIVLQI146del|KRT18_ENST00000388837.2_In_Frame_Del_p.DNARIVLQI146del	p.DNARIVLQI146del			P05783	K1C18_HUMAN			3	490_516	+			146			Coil 1B.|Necessary for interaction with PNN.|Rod.		Q53G38|Q5U0N8|Q9BW26	In_Frame_Del	DEL	ENST00000388835.3	37	c.436_462delGACAATGCCCGCATCGTTCTGCAGATT	CCDS31809.1																																																																																				0.498	KRT18-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406405.1	NM_199187		7	759						7	759	---	---	---	---	-	53344156	GACAATGCCCGCATCGTTCTGCAGATT	-	53344130	7	5	167	1	0	1	0	1	0	0	0	0	8455	1174	41	0	442	0	KRT18	12	53344130	In_Frame_Del	DEL	GACAATGCCCGCATCGTTCTGCAGATT	TCGA-G9-6366-01A-11D-2114-08	34471626	53344130	80507765	23	8028											
CALCOCO1	57658	broad.mit.edu	37	chr12	54118947	54118947	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agtgacattccaccttggtgTtggggatgtaggtccgggct	6	12	15	8	1	0	1	0	1	0	0	2	2	2	2	3	5	0	3	3	5	1	4	rs535194693		TCGA-G9-6366-01A-11D-2114-08	TCGA-G9-6366-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0042c94-9802-4593-9dd8-4352538c6bc7	39351351-11d3-499d-8fec-7bf34f38d3c5	g.chr12:54118947T>C	ENST00000550804.1	-	2	140	c.80A>G	c.(79-81)aAc>aGc	p.N27S	CALCOCO1_ENST00000547885.1_5'UTR|CALCOCO1_ENST00000262059.4_Missense_Mutation_p.N27S|CALCOCO1_ENST00000548263.1_Missense_Mutation_p.N27S|CALCOCO1_ENST00000430117.2_Missense_Mutation_p.N27S			Q9P1Z2	CACO1_HUMAN	calcium binding and coiled-coil domain 1	27	N-terminal AD (CTNNB1 binding site). {ECO:0000250}.|p300 KIX-binding. {ECO:0000250}.				intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	armadillo repeat domain binding (GO:0070016)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein C-terminus binding (GO:0008022)|sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|transcription regulatory region DNA binding (GO:0044212)	p.N27S(1)		NS(2)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	28						CACCTTGGTGTTGGGGATGTA	0.542																																						ENST00000548263.1																			1	Substitution - Missense(1)	p.N27S(1)	ovary(1)	NS(2)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	28						c.(79-81)aAc>aGc		calcium binding and coiled-coil domain 1							205	159	174					12																	54118947		2203	4300	6503	SO:0001583	missense	57658				steroid hormone receptor signaling pathway|transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm	armadillo repeat domain binding|beta-catenin binding|ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|sequence-specific DNA binding|transcription regulatory region DNA binding	g.chr12:54118947T>C	AL136895	CCDS8864.1, CCDS44908.1	12q13.13	2014-01-02			ENSG00000012822	ENSG00000012822			29306	protein-coding gene	gene with protein product	"coiled-coil leucine zipper coactivator 1", "inorganic pyrophosphatase activator"					10819331, 11230166	Standard	NM_020898		Approved	KIAA1536, calphoglin, Cocoa	uc001sef.3	Q9P1Z2	OTTHUMG00000170095	ENST00000550804.1:c.80A>G	12.37:g.54118947T>C	ENSP00000449960:p.Asn27Ser					CALCOCO1_ENST00000547885.1_5'UTR|CALCOCO1_ENST00000430117.2_Missense_Mutation_p.N27S|CALCOCO1_ENST00000262059.4_Missense_Mutation_p.N27S|CALCOCO1_ENST00000550804.1_Missense_Mutation_p.N27S	p.N27S			Q9P1Z2	CACO1_HUMAN			2	128	-			27			N-terminal AD (CTNNB1 binding site) (By similarity).|p300 KIX-binding (By similarity).		B3KVA8|Q6FI59|Q71RC3|Q86WF8|Q96JU3|Q9H090	Missense_Mutation	SNP	ENST00000550804.1	37	c.80A>G	CCDS8864.1	.	.	.	.	.	.	.	.	.	.	T	21.4	4.150445	0.78001	.	.	ENSG00000012822	ENST00000430117;ENST00000262059;ENST00000413257;ENST00000548263;ENST00000550804;ENST00000549935;ENST00000551900;ENST00000546619;ENST00000547949;ENST00000553154;ENST00000549784;ENST00000549173;ENST00000548177;ENST00000552623;ENST00000549349;ENST00000549688;ENST00000547885;ENST00000548431	T;T;T;T;T;T;T;T;T;T;T;T	0.11385	2.78;2.78;2.78;2.78;2.78;2.78;2.78;2.78;2.78;2.78;2.78;2.78	4.86	4.86	0.63082	.	0.000000	0.49305	D	0.000158	T	0.17238	0.0414	L	0.38175	1.15	0.35200	D	0.774219	D;P;P;P;P	0.56746	0.977;0.568;0.943;0.512;0.954	P;B;P;B;P	0.54759	0.76;0.237;0.496;0.152;0.63	T	0.11518	-1.0584	10	0.41790	T	0.15	-23.7115	13.8751	0.63648	0.0:0.0:0.0:1.0	.	27;27;27;27;27	B4DG60;E9PAU0;Q9P1Z2-3;Q9P1Z2-2;Q9P1Z2	.;.;.;.;CACO1_HUMAN	S	27	ENSP00000397189:N27S;ENSP00000262059:N27S;ENSP00000447647:N27S;ENSP00000449960:N27S;ENSP00000450083:N27S;ENSP00000448621:N27S;ENSP00000447117:N27S;ENSP00000449058:N27S;ENSP00000446820:N27S;ENSP00000448026:N27S;ENSP00000450012:N27S;ENSP00000449796:N27S	ENSP00000262059:N27S	N	-	2	0	CALCOCO1	52405214	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.578000	0.53892	2.188000	0.69820	0.533000	0.62120	AAC		0.542	CALCOCO1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000407233.2	NM_020898		13	83	0	0	0	1	0	13	83					C	54118947	T	C	54118947	3	2	167	1	0	0	0	0	1	0	0	0	2577	1725	60	4	2051	4	CALCOCO1	12	54118947	Missense_Mutation	SNP	T	TCGA-G9-6366-01A-11D-2114-08	774817	54118947	79732948	24	8029											
CYP27B1	1594	broad.mit.edu	37	chr12	58159257	58159257	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gagcggggccaggagactgcGgagcctttgccattcttcgc	6	8	15	12	3	1	1	0	0	1	1	2	4	1	2	3	4	4	0	3	4	0	3			TCGA-G9-6366-01A-11D-2114-08	TCGA-G9-6366-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0042c94-9802-4593-9dd8-4352538c6bc7	39351351-11d3-499d-8fec-7bf34f38d3c5	g.chr12:58159257G>A	ENST00000228606.4	-	3	621	c.412C>T	c.(412-414)Cgc>Tgc	p.R138C	CYP27B1_ENST00000546496.1_5'UTR	NM_000785.3	NP_000776.1	O15528	CP27B_HUMAN	cytochrome P450, family 27, subfamily B, polypeptide 1	138					bone mineralization (GO:0030282)|calcitriol biosynthetic process from calciol (GO:0036378)|calcium ion homeostasis (GO:0055074)|calcium ion transport (GO:0006816)|decidualization (GO:0046697)|G1 to G0 transition (GO:0070314)|negative regulation of calcidiol 1-monooxygenase activity (GO:0010956)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of vitamin D 24-hydroxylase activity (GO:0010980)|positive regulation of vitamin D receptor signaling pathway (GO:0070564)|regulation of bone mineralization (GO:0030500)|response to estrogen (GO:0043627)|response to interferon-gamma (GO:0034341)|response to lipopolysaccharide (GO:0032496)|response to vitamin D (GO:0033280)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D catabolic process (GO:0042369)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	calcidiol 1-monooxygenase activity (GO:0004498)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|urinary_tract(1)	15	all_cancers(7;8.09e-80)|Lung NSC(6;2.26e-27)|all_lung(6;1.99e-25)|all_epithelial(6;3.62e-18)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		GBM - Glioblastoma multiforme(5;1.97e-113)|all cancers(5;1.54e-78)|BRCA - Breast invasive adenocarcinoma(9;0.0294)		Alfacalcidol(DB01436)|Calcidiol(DB00146)|Corticotropin(DB01285)|Ergocalciferol(DB00153)	AGGAGACTGCGGAGCCTTTGC	0.672											OREG0021953	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000228606.4																			0				central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|urinary_tract(1)	15						c.(412-414)Cgc>Tgc		cytochrome P450, family 27, subfamily B, polypeptide 1	Calcidiol(DB00146)|Calcitriol(DB00136)|Ergocalciferol(DB00153)						31	34	33					12																	58159257		2200	4292	6492	SO:0001583	missense	1594				bone mineralization|calcium ion homeostasis|calcium ion transport|decidualization|G1 to G0 transition|hormone biosynthetic process|negative regulation of calcidiol 1-monooxygenase activity|negative regulation of cell growth|negative regulation of cell proliferation|positive regulation of keratinocyte differentiation|positive regulation of vitamin D 24-hydroxylase activity|positive regulation of vitamin D receptor signaling pathway|regulation of bone mineralization|response to estrogen stimulus|response to interferon-gamma|response to lipopolysaccharide|response to tumor necrosis factor|response to vitamin D|vitamin D biosynthetic process|xenobiotic metabolic process	mitochondrial outer membrane	calcidiol 1-monooxygenase activity|electron carrier activity|heme binding	g.chr12:58159257G>A	AB006987	CCDS8954.1	12q14.1	2013-11-13	2003-01-14		ENSG00000111012	ENSG00000111012		"Cytochrome P450s"	2606	protein-coding gene	gene with protein product	"VDDR I", "1alpha(OH)ase", "25-Hydroxyvitamin D3 1alpha-hydroxylase"	609506	"cytochrome P450, subfamily XXVIIB (25-hydroxyvitamin D-1-alpha-hydroxylase), polypeptide 1"	VDD1, PDDR		9295274, 9344864	Standard	NM_000785		Approved	CYP1, P450c1	uc001spz.1	O15528	OTTHUMG00000170457	ENST00000228606.4:c.412C>T	12.37:g.58159257G>A	ENSP00000228606:p.Arg138Cys		OREG0021953	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1028	RP11-571M6.13_ENST00000546609.1_RNA|CYP27B1_ENST00000546496.1_5'UTR	p.R138C	NM_000785.3	NP_000776.1	O15528	CP27B_HUMAN	GBM - Glioblastoma multiforme(5;1.97e-113)|all cancers(5;1.54e-78)|BRCA - Breast invasive adenocarcinoma(9;0.0294)		3	621	-	all_cancers(7;8.09e-80)|Lung NSC(6;2.26e-27)|all_lung(6;1.99e-25)|all_epithelial(6;3.62e-18)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		138					B2RC61|Q548T3	Missense_Mutation	SNP	ENST00000228606.4	37	c.412C>T	CCDS8954.1	.	.	.	.	.	.	.	.	.	.	G	25.5	4.641353	0.87859	.	.	ENSG00000111012	ENST00000228606	D	0.85955	-2.05	5.06	5.06	0.68205	.	0.000000	0.85682	D	0.000000	D	0.92828	0.7719	M	0.83852	2.665	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.93671	0.6990	10	0.87932	D	0	.	17.3428	0.87301	0.0:0.0:1.0:0.0	.	138	O15528	CP27B_HUMAN	C	138	ENSP00000228606:R138C	ENSP00000228606:R138C	R	-	1	0	CYP27B1	56445524	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.158000	0.77470	2.625000	0.88918	0.561000	0.74099	CGC		0.672	CYP27B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409248.1	NM_000785		9	14	0	0	0	1	0	9	14					A	58159257	G	A	58159257	3	1	167	1	0	0	0	0	1	0	0	0	4159	1116	39	2	1142	2	CYP27B1	12	58159257	Missense_Mutation	SNP	G	TCGA-G9-6366-01A-11D-2114-08	4040310	58159257	75692638	25	8030											
UHRF1BP1L	23074	broad.mit.edu	37	chr12	100452768	100452768	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	caagagcttcttccgcttcaAtcggccagccagatcactag	10	9	8	14	2	3	2	2	0	1	2	5	2	4	2	3	1	2	2	3	1	3	4			TCGA-G9-6366-01A-11D-2114-08	TCGA-G9-6366-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0042c94-9802-4593-9dd8-4352538c6bc7	39351351-11d3-499d-8fec-7bf34f38d3c5	g.chr12:100452768A>G	ENST00000279907.7	-	14	2499	c.2287T>C	c.(2287-2289)Ttg>Ctg	p.L763L	UHRF1BP1L_ENST00000545232.2_Silent_p.L413L	NM_015054.1	NP_055869.1	A0JNW5	UH1BL_HUMAN	UHRF1 binding protein 1-like	763										breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(21)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	50						TTCCGCTTCAATCGGCCAGCC	0.408																																						ENST00000279907.7																			0				breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(21)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	50						c.(2287-2289)Ttg>Ctg		UHRF1 binding protein 1-like							93	99	97					12																	100452768		2203	4300	6503	SO:0001819	synonymous_variant	23074							g.chr12:100452768A>G		CCDS31882.1, CCDS31883.1	12q23.1	2011-04-15	2008-08-15		ENSG00000111647	ENSG00000111647			29102	protein-coding gene	gene with protein product							Standard	XM_005268737		Approved	KIAA0701	uc001tgq.3	A0JNW5	OTTHUMG00000170195	ENST00000279907.7:c.2287T>C	12.37:g.100452768A>G						UHRF1BP1L_ENST00000545232.2_Silent_p.L413L	p.L763L	NM_015054.1	NP_055869.1	A0JNW5	UH1BL_HUMAN			14	2499	-			763					A0PJE5|O75183|Q8NDL1|Q96C30|Q9BTS5|Q9H0F1	Silent	SNP	ENST00000279907.7	37	c.2287T>C	CCDS31882.1																																																																																				0.408	UHRF1BP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407875.1	NM_001006947		49	127	0	0	0	1	0	49	127					G	100452768	A	G	100452768	2	3	167	1	0	0	0	0	0	0	0	1	16966	98	4	4		4	UHRF1BP1L	12	100452768	Silent	SNP	A	TCGA-G9-6366-01A-11D-2114-08	42293511	100452768	33399127	26	8031											
MYBPC1	4604	broad.mit.edu	37	chr12	102072013	102072013	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgcagtgtgagaggaaatccTaaggtaccatgttcttctat	11	13	10	7	0	2	1	0	1	2	1	3	3	3	2	2	2	2	3	2	2	4	5			TCGA-G9-6366-01A-11D-2114-08	TCGA-G9-6366-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0042c94-9802-4593-9dd8-4352538c6bc7	39351351-11d3-499d-8fec-7bf34f38d3c5	g.chr12:102072013T>A	ENST00000550270.1	+	27	3222	c.3222T>A	c.(3220-3222)ccT>ccA	p.P1074P	MYBPC1_ENST00000547509.1_Silent_p.P1042P|MYBPC1_ENST00000361466.2_Silent_p.P1081P|MYBPC1_ENST00000541119.1_Silent_p.P1044P|MYBPC1_ENST00000551300.1_Silent_p.P957P|MYBPC1_ENST00000553190.1_Silent_p.P1056P|MYBPC1_ENST00000392934.3_Silent_p.P1043P|MYBPC1_ENST00000452455.2_Silent_p.P1074P|MYBPC1_ENST00000550501.1_Intron|MYBPC1_ENST00000549145.1_Silent_p.P1087P|MYBPC1_ENST00000441232.1_Silent_p.P1074P|MYBPC1_ENST00000545503.2_Silent_p.P1056P|MYBPC1_ENST00000360610.2_Silent_p.P1074P|MYBPC1_ENST00000361685.2_Silent_p.P1081P|MYBPC1_ENST00000536007.1_Silent_p.P1037P|MYBPC1_ENST00000547405.1_Silent_p.P1030P			Q00872	MYPC1_HUMAN	myosin binding protein C, slow type	1074	Ig-like C2-type 7.				cell adhesion (GO:0007155)|muscle filament sliding (GO:0030049)	cytosol (GO:0005829)|myofibril (GO:0030016)|myosin filament (GO:0032982)	structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	57						GAGGAAATCCTAAGGTACCAT	0.398																																						ENST00000549145.1																			0				breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	57						c.(3259-3261)ccT>ccA		myosin binding protein C, slow type							189	163	172					12																	102072013		2203	4300	6503	SO:0001819	synonymous_variant	4604				cell adhesion|muscle filament sliding	cytosol|myofibril|myosin filament	actin binding|structural constituent of muscle|titin binding	g.chr12:102072013T>A		CCDS9083.1, CCDS9084.1, CCDS9085.1, CCDS55877.1, CCDS58268.1, CCDS58269.1, CCDS58270.1, CCDS58271.1, CCDS58272.1, CCDS58273.1	12q23.2	2013-02-11	2001-11-28		ENSG00000196091	ENSG00000196091		"Myosin binding proteins", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	7549	protein-coding gene	gene with protein product		160794	"myosin-binding protein C, slow-type"			8375400, 16918501	Standard	NM_002465		Approved		uc010svs.2	Q00872	OTTHUMG00000170274	ENST00000550270.1:c.3222T>A	12.37:g.102072013T>A						MYBPC1_ENST00000547509.1_Silent_p.P1042P|MYBPC1_ENST00000361685.2_Silent_p.P1081P|MYBPC1_ENST00000553190.1_Silent_p.P1056P|MYBPC1_ENST00000551300.1_Silent_p.P957P|MYBPC1_ENST00000550270.1_Silent_p.P1074P|MYBPC1_ENST00000360610.2_Silent_p.P1074P|MYBPC1_ENST00000547405.1_Silent_p.P1030P|MYBPC1_ENST00000545503.2_Silent_p.P1056P|MYBPC1_ENST00000541119.1_Silent_p.P1044P|MYBPC1_ENST00000536007.1_Silent_p.P1037P|MYBPC1_ENST00000452455.2_Silent_p.P1074P|MYBPC1_ENST00000441232.1_Silent_p.P1074P|MYBPC1_ENST00000392934.3_Silent_p.P1043P|MYBPC1_ENST00000361466.2_Silent_p.P1081P|MYBPC1_ENST00000550501.1_Intron	p.P1087P			Q00872	MYPC1_HUMAN			28	3361	+			1074			Ig-like C2-type 7.		B4DKR5|B7Z8G8|B7ZL02|B7ZL09|B7ZL10|E7ESM5|E7EWS6|G3XAE8|Q15497|Q17RR7|Q569K7|Q86T48|Q86TC8|Q8N3L2	Silent	SNP	ENST00000550270.1	37	c.3261T>A	CCDS9085.1																																																																																				0.398	MYBPC1-024	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000408806.1			53	124	0	0	0	1	0	53	124					A	102072013	T	A	102072013	2	1	167	1	0	0	0	0	0	0	0	1	10011	1509	53	5		5	MYBPC1	12	102072013	Silent	SNP	T	TCGA-G9-6366-01A-11D-2114-08	1619245	102072013	31779882	27	8032											
SERPINE3	647174	broad.mit.edu	37	chr13	51918393	51918393	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	acttgtttttcacagacaaaAgggtgaaagatttcttgcat	13	14	8	6	0	2	3	1	1	1	2	2	3	2	3	0	1	1	2	0	1	3	5			TCGA-G9-6366-01A-11D-2114-08	TCGA-G9-6366-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0042c94-9802-4593-9dd8-4352538c6bc7	39351351-11d3-499d-8fec-7bf34f38d3c5	g.chr13:51918393A>G	ENST00000521255.1	+	2	322	c.262A>G	c.(262-264)Agg>Ggg	p.R88G	SERPINE3_ENST00000524365.1_Missense_Mutation_p.R88G|SERPINE3_ENST00000400389.4_Missense_Mutation_p.R88G	NM_001101320.1	NP_001094790.1	A8MV23	SERP3_HUMAN	serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 3	88					negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	extracellular space (GO:0005615)	serine-type endopeptidase inhibitor activity (GO:0004867)			ovary(2)	2						CACAGACAAAAGGGTGAAAGA	0.488																																						ENST00000524365.1																			0				ovary(2)	2						c.(262-264)Agg>Ggg		serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 3							60	61	61					13																	51918393		2034	4184	6218	SO:0001583	missense	647174				regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity	g.chr13:51918393A>G	AX772926	CCDS53870.1	13q14.3	2014-02-18			ENSG00000253309	ENSG00000253309		"Serine (or cysteine) peptidase inhibitors"	24774	protein-coding gene	gene with protein product						24172014	Standard	NM_001101320		Approved		uc001vfh.2	A8MV23	OTTHUMG00000016943	ENST00000521255.1:c.262A>G	13.37:g.51918393A>G	ENSP00000428316:p.Arg88Gly					SERPINE3_ENST00000521255.1_Missense_Mutation_p.R88G|SERPINE3_ENST00000400389.4_Missense_Mutation_p.R88G	p.R88G			A8MV23	SERP3_HUMAN			5	887	+			88					B1V8P3	Missense_Mutation	SNP	ENST00000521255.1	37	c.262A>G	CCDS53870.1	.	.	.	.	.	.	.	.	.	.	A	16.76	3.212422	0.58452	.	.	ENSG00000253309	ENST00000524365;ENST00000521255;ENST00000400389	D;D;D	0.84442	-1.85;-1.85;-1.85	5.02	2.41	0.29592	Serpin domain (3);	.	.	.	.	T	0.80444	0.4624	L	0.38953	1.18	0.09310	N	1	P;P	0.44521	0.622;0.837	B;B	0.43331	0.217;0.416	T	0.70425	-0.4875	9	0.59425	D	0.04	.	11.3728	0.49711	0.7133:0.2867:0.0:0.0	.	88;88	A8MV23-2;A8MV23	.;SERP3_HUMAN	G	88	ENSP00000430755:R88G;ENSP00000428316:R88G;ENSP00000441468:R88G	ENSP00000441468:R88G	R	+	1	2	SERPINE3	50816394	0.002000	0.14202	0.003000	0.11579	0.949000	0.60115	1.859000	0.39418	0.924000	0.37069	0.533000	0.62120	AGG		0.488	SERPINE3-001	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000045021.2	NM_001101320		3	40	0	0	0	1	0	3	40					G	51918393	A	G	51918393	3	3	167	1	0	0	0	0	1	0	0	0	14113	63	3	4	268	4	SERPINE3	13	51918393	Missense_Mutation	SNP	A	TCGA-G9-6366-01A-11D-2114-08		51918393	63251485	28	8033											
POTEM	641455	broad.mit.edu	37	chr14	20019998	20019998	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcccacgttgctcttgccgcTccccctgcaccaggggaagc	5	7	11	18	2	1	0	0	0	1	0	2	1	2	1	5	2	4	4	5	2	1	2			TCGA-G9-6366-01A-11D-2114-08	TCGA-G9-6366-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0042c94-9802-4593-9dd8-4352538c6bc7	39351351-11d3-499d-8fec-7bf34f38d3c5	g.chr14:20019998T>C	ENST00000551509.1	-	1	274	c.223A>G	c.(223-225)Agc>Ggc	p.S75G		NM_001145442.1	NP_001138914.1	A6NI47	POTEM_HUMAN	POTE ankyrin domain family, member M	75										endometrium(4)|kidney(1)|lung(4)	9						CTCTTGCCGCTCCCCCTGCAC	0.587																																						ENST00000551509.1																			0				endometrium(4)|kidney(1)|lung(4)	9						c.(223-225)Agc>Ggc		POTE ankyrin domain family, member M							11	21	19					14																	20019998		316	1135	1451	SO:0001583	missense	641455							g.chr14:20019998T>C		CCDS73609.1	14q11.2	2013-01-10			ENSG00000187537	ENSG00000187537		"POTE ankyrin domain containing", "Ankyrin repeat domain containing"	37096	protein-coding gene	gene with protein product	"prostate-specific P704P"					16364570	Standard	NM_001145442		Approved	POTE14beta, P704P, ACT	uc001vwc.3	A6NI47		ENST00000551509.1:c.223A>G	14.37:g.20019998T>C	ENSP00000452296:p.Ser75Gly						p.S75G	NM_001145442.1	NP_001138914.1	A6NI47	POTEM_HUMAN			1	274	-			75						Missense_Mutation	SNP	ENST00000551509.1	37	c.223A>G	CCDS45076.1	.	.	.	.	.	.	.	.	.	.	t	3.158	-0.172651	0.06421	.	.	ENSG00000187537	ENST00000551509;ENST00000439503;ENST00000344684	T	0.33438	1.41	.	.	.	.	.	.	.	.	T	0.25606	0.0623	L	0.61218	1.895	0.09310	N	1	B	0.27791	0.189	B	0.29785	0.107	T	0.28459	-1.0043	6	.	.	.	.	.	.	.	.	75	A6NI47	POTEM_HUMAN	G	75	ENSP00000452296:S75G	.	S	-	1	0	POTEM	19089998	0.001000	0.12720	0.005000	0.12908	0.137000	0.21094	0.985000	0.29578	-0.760000	0.04677	0.128000	0.15822	AGC		0.587	POTEM-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409490.3	NM_001145442		5	382	0	0	0	1	0	5	382					C	20019998	T	C	20019998	3	2	167	1	0	0	0	0	1	0	0	0	12268	1551	54	4	1343	4	POTEM	14	20019998	Missense_Mutation	SNP	T	TCGA-G9-6366-01A-11D-2114-08		20019998	87329542	29	8034											
THTPA	79178	broad.mit.edu	37	chr14	24026160	24026160	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggatagtggatgggagctcaAatgtcctggagcagcaggtg	10	8	17	6	0	1	0	1	0	0	0	2	4	2	4	1	5	3	3	1	5	2	1			TCGA-G9-6366-01A-11D-2114-08	TCGA-G9-6366-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0042c94-9802-4593-9dd8-4352538c6bc7	39351351-11d3-499d-8fec-7bf34f38d3c5	g.chr14:24026160A>G	ENST00000288014.6	+	1	930	c.194A>G	c.(193-195)aAa>aGa	p.K65R	RP11-66N24.4_ENST00000555446.1_RNA|THTPA_ENST00000404535.3_Missense_Mutation_p.K65R|THTPA_ENST00000554789.1_Missense_Mutation_p.K65R|THTPA_ENST00000554970.1_Missense_Mutation_p.K65R|RP11-66N24.4_ENST00000556354.1_RNA|RP11-66N24.4_ENST00000553985.1_RNA|THTPA_ENST00000556015.1_Missense_Mutation_p.K65R			Q9BU02	THTPA_HUMAN	thiamine triphosphatase	65	CYTH. {ECO:0000255|PROSITE- ProRule:PRU01044}.				dephosphorylation (GO:0016311)|generation of precursor metabolites and energy (GO:0006091)|small molecule metabolic process (GO:0044281)|thiamine diphosphate metabolic process (GO:0042357)|thiamine metabolic process (GO:0006772)|thiamine-containing compound metabolic process (GO:0042723)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)	hydrolase activity (GO:0016787)|magnesium ion binding (GO:0000287)|thiamin-triphosphatase activity (GO:0050333)			large_intestine(1)|prostate(2)	3	all_cancers(95;0.000251)			GBM - Glioblastoma multiforme(265;0.00643)		TGGGAGCTCAAATGTCCTGGA	0.572																																						ENST00000288014.6																			0				large_intestine(1)|prostate(2)	3						c.(193-195)aAa>aGa		thiamine triphosphatase	Thiamine(DB00152)						78	64	69					14																	24026160		2203	4300	6503	SO:0001583	missense	0				dephosphorylation|generation of precursor metabolites and energy|thiamine metabolic process	cytosol|nucleolus|soluble fraction	thiamin-triphosphatase activity	g.chr14:24026160A>G	AF432862	CCDS32053.1, CCDS58306.1, CCDS58307.1	14q11.2	2011-04-28					3.6.1.28		18987	protein-coding gene	gene with protein product		611612				11827967	Standard	NR_046051		Approved	THTPASE	uc001wkh.5	Q9BU02		ENST00000288014.6:c.194A>G	14.37:g.24026160A>G	ENSP00000288014:p.Lys65Arg					THTPA_ENST00000404535.3_Missense_Mutation_p.K65R|THTPA_ENST00000554789.1_Missense_Mutation_p.K65R|THTPA_ENST00000556015.1_Missense_Mutation_p.K65R|RP11-66N24.4_ENST00000556354.1_RNA|THTPA_ENST00000554970.1_Missense_Mutation_p.K65R|RP11-66N24.4_ENST00000553985.1_RNA|RP11-66N24.4_ENST00000555446.1_RNA	p.K65R			Q9BU02	THTPA_HUMAN		GBM - Glioblastoma multiforme(265;0.00643)	1	930	+	all_cancers(95;0.000251)		65					D3DS50|G3V4J3	Missense_Mutation	SNP	ENST00000288014.6	37	c.194A>G	CCDS32053.1	.	.	.	.	.	.	.	.	.	.	A	23.6	4.440092	0.83993	.	.	ENSG00000157306	ENST00000404535;ENST00000288014;ENST00000557630;ENST00000556015;ENST00000554970;ENST00000554789	T;T;T;T;T;T	0.56275	0.47;0.47;0.47;0.47;0.47;0.47	5.91	4.75	0.60458	CYTH domain (2);CYTH-like domain (1);	0.044969	0.85682	D	0.000000	T	0.75213	0.3819	M	0.91249	3.19	0.58432	D	0.999999	D;D	0.76494	0.999;0.998	D;D	0.68353	0.943;0.957	T	0.78807	-0.2059	10	0.62326	D	0.03	-15.56	10.7037	0.45942	0.8571:0.0:0.0:0.1429	.	65;65	G3V4J3;Q9BU02	.;THTPA_HUMAN	R	65	ENSP00000384580:K65R;ENSP00000288014:K65R;ENSP00000452281:K65R;ENSP00000451835:K65R;ENSP00000452465:K65R;ENSP00000450459:K65R	ENSP00000288014:K65R	K	+	2	0	THTPA	23096000	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	6.474000	0.73578	1.033000	0.39918	-0.336000	0.08194	AAA		0.572	THTPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413800.2			15	27	0	0	0	1	0	15	27					G	24026160	A	G	24026160	3	3	167	1	0	0	0	0	1	0	0	0	15878	14	1	4	196	4	THTPA	14	24026160	Missense_Mutation	SNP	A	TCGA-G9-6366-01A-11D-2114-08	4006162	24026160	83323380	30	8035											
SYNE2	23224	broad.mit.edu	37	chr14	64604565	64604565	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accaaactctgaacgaaggcAaacagttggtggcgtctgtg	12	8	12	9	2	2	1	0	1	2	0	2	2	2	1	1	3	3	2	1	3	4	1			TCGA-G9-6366-01A-11D-2114-08	TCGA-G9-6366-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0042c94-9802-4593-9dd8-4352538c6bc7	39351351-11d3-499d-8fec-7bf34f38d3c5	g.chr14:64604565A>C	ENST00000344113.4	+	79	14919	c.14707A>C	c.(14707-14709)Aaa>Caa	p.K4903Q	SYNE2_ENST00000357395.3_Missense_Mutation_p.K1288Q|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000394768.2_Missense_Mutation_p.K1288Q|SYNE2_ENST00000554584.1_Missense_Mutation_p.K4820Q|SYNE2_ENST00000555002.1_Missense_Mutation_p.K1537Q|SYNE2_ENST00000358025.3_Missense_Mutation_p.K4903Q	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	4903					centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		GAACGAAGGCAAACAGTTGGT	0.408																																						ENST00000357395.3																			0				NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224						c.(3862-3864)Aaa>Caa		spectrin repeat containing, nuclear envelope 2							99	92	94					14																	64604565		2203	4300	6503	SO:0001583	missense	23224				centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding	g.chr14:64604565A>C	AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"nuclear envelope spectrin repeat-2", "nucleus and actin connecting element"	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.14707A>C	14.37:g.64604565A>C	ENSP00000341781:p.Lys4903Gln					SYNE2_ENST00000344113.4_Missense_Mutation_p.K4903Q|SYNE2_ENST00000358025.3_Missense_Mutation_p.K4903Q|SYNE2_ENST00000554584.1_Missense_Mutation_p.K4820Q|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000394768.2_Missense_Mutation_p.K1288Q|SYNE2_ENST00000555002.1_Missense_Mutation_p.K1537Q	p.K1288Q			Q8WXH0	SYNE2_HUMAN		all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)	80	15006	+			4903					Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Missense_Mutation	SNP	ENST00000344113.4	37	c.3862A>C	CCDS41963.1	.	.	.	.	.	.	.	.	.	.	A	15.91	2.973678	0.53720	.	.	ENSG00000054654	ENST00000358025;ENST00000357395;ENST00000344113;ENST00000554584;ENST00000261678;ENST00000555002;ENST00000394768	T;T;T;T;T;T	0.31769	1.48;1.48;1.48;1.48;1.48;1.48	5.87	5.87	0.94306	.	0.205334	0.33127	N	0.005259	T	0.48978	0.1530	M	0.72118	2.19	0.80722	D	1	P;P;D	0.58268	0.802;0.534;0.982	P;B;P	0.56042	0.511;0.238;0.79	T	0.41998	-0.9477	10	0.33141	T	0.24	.	16.2676	0.82597	1.0:0.0:0.0:0.0	.	1288;4903;4903	Q8WXH0-7;Q8WXH0;Q8WXH0-2	.;SYNE2_HUMAN;.	Q	4903;1288;4903;4820;4820;1537;1288	ENSP00000350719:K4903Q;ENSP00000349969:K1288Q;ENSP00000341781:K4903Q;ENSP00000452570:K4820Q;ENSP00000450831:K1537Q;ENSP00000378249:K1288Q	ENSP00000261678:K4820Q	K	+	1	0	SYNE2	63674318	1.000000	0.71417	0.998000	0.56505	0.992000	0.81027	8.596000	0.90844	2.243000	0.73865	0.533000	0.62120	AAA		0.408	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276994.2	NM_182914		28	74	0	0	0	1	0	28	74					C	64604565	A	C	64604565	3	2	167	1	0	0	0	0	1	0	0	0	15443	131	5	5	15017	5	SYNE2	14	64604565	Missense_Mutation	SNP	A	TCGA-G9-6366-01A-11D-2114-08	40578405	64604565	42744975	31	8036											
UACA	55075	broad.mit.edu	37	chr15	70959376	70959376	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cctctctagtctctaattttTttaatgcttgtttagtattc	7	22	4	8	0	2	0	0	0	2	0	5	0	2	0	1	0	1	3	1	0	5	11			TCGA-G9-6366-01A-11D-2114-08	TCGA-G9-6366-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0042c94-9802-4593-9dd8-4352538c6bc7	39351351-11d3-499d-8fec-7bf34f38d3c5	g.chr15:70959376T>C	ENST00000322954.6	-	16	3832	c.3647A>G	c.(3646-3648)aAa>aGa	p.K1216R	UACA_ENST00000560441.1_Missense_Mutation_p.K1201R|UACA_ENST00000379983.2_Missense_Mutation_p.K1203R|UACA_ENST00000539319.1_Missense_Mutation_p.K1107R	NM_018003.2	NP_060473.2	Q9BZF9	UACA_HUMAN	uveal autoantigen with coiled-coil domains and ankyrin repeats	1216					intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|negative regulation of inflammatory response (GO:0050728)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of protein import into nucleus (GO:0042307)|response to UV (GO:0009411)	apoptosome (GO:0043293)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)				breast(2)|endometrium(7)|kidney(4)|large_intestine(13)|lung(17)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	50						CTCTAATTTTTTTAATGCTTG	0.338																																						ENST00000322954.6																			0				breast(2)|endometrium(7)|kidney(4)|large_intestine(13)|lung(17)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	50						c.(3646-3648)aAa>aGa		uveal autoantigen with coiled-coil domains and ankyrin repeats							98	96	97					15																	70959376		2199	4298	6497	SO:0001583	missense	55075					cytoskeleton|extracellular region		g.chr15:70959376T>C	AF322916	CCDS10235.1, CCDS32280.1	15q22-q24	2013-01-10			ENSG00000137831	ENSG00000137831		"Ankyrin repeat domain containing"	15947	protein-coding gene	gene with protein product		612516				11162650, 10997877	Standard	NM_001008224		Approved	FLJ10128, KIAA1561	uc002asr.3	Q9BZF9	OTTHUMG00000133363	ENST00000322954.6:c.3647A>G	15.37:g.70959376T>C	ENSP00000314556:p.Lys1216Arg					UACA_ENST00000379983.2_Missense_Mutation_p.K1203R|UACA_ENST00000539319.1_Missense_Mutation_p.K1107R|UACA_ENST00000560441.1_Missense_Mutation_p.K1201R	p.K1216R	NM_018003.2	NP_060473.2	Q9BZF9	UACA_HUMAN			16	3832	-			1216					G3XAG2|Q14DD3|Q8N3B8|Q96NH6|Q9HCL1|Q9NWC6	Missense_Mutation	SNP	ENST00000322954.6	37	c.3647A>G	CCDS10235.1	.	.	.	.	.	.	.	.	.	.	T	11.86	1.765793	0.31228	.	.	ENSG00000137831	ENST00000322954;ENST00000379983;ENST00000539319	T;T;T	0.35789	1.29;1.31;1.78	5.66	3.36	0.38483	.	0.177952	0.39341	N	0.001395	T	0.29491	0.0735	M	0.62723	1.935	0.09310	N	1	B;B;B;P	0.41232	0.005;0.012;0.021;0.743	B;B;B;B	0.38755	0.023;0.01;0.01;0.281	T	0.13872	-1.0493	10	0.23302	T	0.38	-15.2074	4.8805	0.13677	0.0:0.2393:0.1632:0.5975	.	1107;1216;1216;1203	F5H2B9;B7ZKM6;Q9BZF9;G3XAG2	.;.;UACA_HUMAN;.	R	1216;1203;1107	ENSP00000314556:K1216R;ENSP00000369319:K1203R;ENSP00000438667:K1107R	ENSP00000314556:K1216R	K	-	2	0	UACA	68746430	0.186000	0.23225	0.007000	0.13788	0.919000	0.55068	1.410000	0.34691	0.430000	0.26230	0.533000	0.62120	AAA		0.338	UACA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257199.2			18	61	0	0	0	1	0	18	61					C	70959376	T	C	70959376	3	2	167	1	0	0	0	0	1	0	0	0	16821	1841	64	4	619	4	UACA	15	70959376	Missense_Mutation	SNP	T	TCGA-G9-6366-01A-11D-2114-08		70959376	31572016	32	8037											
SSH2	85464	broad.mit.edu	37	chr17	27963805	27963805	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaatgagatctccatagtttGttatgccgctgtttgctgtg	7	16	11	7	1	1	1	0	1	1	1	2	3	1	1	2	0	2	5	2	0	3	4			TCGA-G9-6366-01A-11D-2114-08	TCGA-G9-6366-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0042c94-9802-4593-9dd8-4352538c6bc7	39351351-11d3-499d-8fec-7bf34f38d3c5	g.chr17:27963805G>T	ENST00000269033.3	-	14	1513	c.1362C>A	c.(1360-1362)aaC>aaA	p.N454K	SSH2_ENST00000540801.1_Missense_Mutation_p.N481K|RP11-68I3.5_ENST00000581240.1_RNA|RP11-68I3.2_ENST00000581474.1_RNA	NM_001282129.1|NM_033389.2	NP_001269058.1|NP_203747.2	Q76I76	SSH2_HUMAN	slingshot protein phosphatase 2	454					actin cytoskeleton organization (GO:0030036)|protein dephosphorylation (GO:0006470)|regulation of actin polymerization or depolymerization (GO:0008064)|regulation of axonogenesis (GO:0050770)|regulation of lamellipodium assembly (GO:0010591)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular space (GO:0005615)	actin binding (GO:0003779)|DNA binding (GO:0003677)|phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)		SSH2/SUZ12(2)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TCCATAGTTTGTTATGCCGCT	0.448																																						ENST00000269033.3																		SSH2/SUZ12(2)	0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						c.(1360-1362)aaC>aaA		slingshot protein phosphatase 2							206	186	193					17																	27963805		2203	4300	6503	SO:0001583	missense	85464				actin cytoskeleton organization|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly	cytoplasm|cytoskeleton	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr17:27963805G>T	AB072359	CCDS11253.1, CCDS74024.1	17q11.2	2013-03-05	2013-03-05		ENSG00000141298	ENSG00000141298		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Slingshots"	30580	protein-coding gene	gene with protein product		606779	"slingshot homolog 2 (Drosophila)"			11832213, 11214970	Standard	XM_005258059		Approved	KIAA1725	uc002heo.1	Q76I76	OTTHUMG00000132752	ENST00000269033.3:c.1362C>A	17.37:g.27963805G>T	ENSP00000269033:p.Asn454Lys					SSH2_ENST00000540801.1_Missense_Mutation_p.N481K|RP11-68I3.2_ENST00000581474.1_RNA	p.N454K	NM_033389.2	NP_203747.2	Q76I76	SSH2_HUMAN			14	1513	-			454					Q8TDB5|Q8WYL1|Q8WYL2|Q96F40|Q96H36|Q9C0D8	Missense_Mutation	SNP	ENST00000269033.3	37	c.1362C>A	CCDS11253.1	.	.	.	.	.	.	.	.	.	.	G	17.49	3.402368	0.62288	.	.	ENSG00000141298	ENST00000269033;ENST00000540801	T;T	0.43294	0.95;0.95	6.16	1.5	0.22942	.	0.000000	0.85682	D	0.000000	T	0.52224	0.1721	M	0.66939	2.045	0.80722	D	1	P;P	0.49307	0.843;0.922	P;P	0.53988	0.715;0.739	T	0.58064	-0.7702	10	0.87932	D	0	-21.5391	12.2589	0.54638	0.2651:0.0:0.7349:0.0	.	481;454	F5H527;Q76I76	.;SSH2_HUMAN	K	454;481	ENSP00000269033:N454K;ENSP00000444743:N481K	ENSP00000269033:N454K	N	-	3	2	SSH2	24987931	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.903000	0.39858	0.489000	0.27749	0.650000	0.86243	AAC		0.448	SSH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256116.1	NM_033389		12	142	1	0	5.50884e-06	1	5.96038e-06	12	142					T	27963805	G	T	27963805	3	4	167	1	0	0	0	0	1	0	0	0	15184	1368	48	5	2917	5	SSH2	17	27963805	Missense_Mutation	SNP	G	TCGA-G9-6366-01A-11D-2114-08		27963805	53231405	33	8038											
ERBB2	2064	broad.mit.edu	37	chr17	37881014	37881014	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctggtgtgggctccccataTgtctcccgccttctgggcat	3	12	12	14	1	2	0	0	0	2	0	4	0	3	0	4	3	0	3	4	3	1	2			TCGA-G9-6366-01A-11D-2114-08	TCGA-G9-6366-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0042c94-9802-4593-9dd8-4352538c6bc7	39351351-11d3-499d-8fec-7bf34f38d3c5	g.chr17:37881014T>C	ENST00000269571.5	+	20	2502	c.2343T>C	c.(2341-2343)taT>taC	p.Y781Y	MIR4728_ENST00000580969.1_RNA|ERBB2_ENST00000584450.1_Silent_p.Y781Y|ERBB2_ENST00000541774.1_Silent_p.Y766Y|ERBB2_ENST00000445658.2_Silent_p.Y505Y|ERBB2_ENST00000540147.1_Silent_p.Y751Y|ERBB2_ENST00000584601.1_Silent_p.Y751Y|ERBB2_ENST00000406381.2_Silent_p.Y751Y			P04626	ERBB2_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2	781	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|enzyme linked receptor protein signaling pathway (GO:0007167)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|motor neuron axon guidance (GO:0008045)|myelination (GO:0042552)|negative regulation of immature T cell proliferation in thymus (GO:0033088)|neuromuscular junction development (GO:0007528)|neurotrophin TRK receptor signaling pathway (GO:0048011)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine phosphorylation (GO:0018108)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell growth (GO:0030307)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of transcription from RNA polymerase I promoter (GO:0045943)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of angiogenesis (GO:0045765)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of microtubule-based process (GO:0032886)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|transcription, DNA-templated (GO:0006351)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|ErbB-3 class receptor binding (GO:0043125)|identical protein binding (GO:0042802)|protein C-terminus binding (GO:0008022)|protein dimerization activity (GO:0046983)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|RNA polymerase I core binding (GO:0001042)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4)	247	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	ado-trastuzumab emtansine(DB05773)|Afatinib(DB08916)|Lapatinib(DB01259)|Pertuzumab(DB06366)|Trastuzumab(DB00072)	GCTCCCCATATGTCTCCCGCC	0.597		1	"A, Mis, O"		"breast, ovarian, other tumour types, NSCLC, gastric"					TCGA GBM(5;<1E-08)																												ENST00000406381.2		1		Dom	yes		17	17q21.1	2064	"A, Mis, O"	"v-erb-b2 erythroblastic leukemia viral oncogene homolog 2, neuro/glioblastoma derived oncogene homolog (avian)"			E			"breast, ovarian, other tumour types, NSCLC, gastric"		0				NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4)	247						c.(2251-2253)taT>taC		v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2	Lapatinib(DB01259)|Letrozole(DB01006)|Trastuzumab(DB00072)						90	87	88					17																	37881014		2203	4300	6503	SO:0001819	synonymous_variant	2064				cell proliferation|heart development|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of cell adhesion|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|protein autophosphorylation|regulation of angiogenesis|regulation of microtubule-based process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|wound healing	integral to membrane|nucleus|perinuclear region of cytoplasm|receptor complex	ATP binding|DNA binding|epidermal growth factor receptor activity|ErbB-3 class receptor binding|identical protein binding|protein C-terminus binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	g.chr17:37881014T>C	X03363	CCDS32642.1, CCDS45667.1, CCDS74052.1	17q11.2-q12	2014-09-17	2013-07-09			ENSG00000141736		"CD molecules"	3430	protein-coding gene	gene with protein product	"neuro/glioblastoma derived oncogene homolog"	164870	"v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2 (neuro/glioblastoma derived oncogene homolog)"	NGL			Standard	XM_005257140		Approved	NEU, HER-2, CD340, HER2	uc002hso.3	P04626		ENST00000269571.5:c.2343T>C	17.37:g.37881014T>C		TCGA GBM(5;<1E-08)				ERBB2_ENST00000584601.1_Silent_p.Y751Y|ERBB2_ENST00000584450.1_Silent_p.Y781Y|ERBB2_ENST00000541774.1_Silent_p.Y766Y|ERBB2_ENST00000540147.1_Silent_p.Y751Y|ERBB2_ENST00000445658.2_Silent_p.Y505Y|ERBB2_ENST00000269571.5_Silent_p.Y781Y	p.Y751Y	NM_001005862.1	NP_001005862.1	P04626	ERBB2_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	22	2763	+	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	781			Protein kinase.		B2RZG3|B4DHN3|Q14256|Q6LDV1|Q9UMK4|X5D2V5	Silent	SNP	ENST00000269571.5	37	c.2253T>C	CCDS32642.1																																																																																				0.597	ERBB2-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445621.2			27	65	0	0	0	1	0	27	65					C	37881014	T	C	37881014	2	2	167	1	0	0	0	0	0	0	0	1	5206	1471	51	4		4	ERBB2	17	37881014	Silent	SNP	T	TCGA-G9-6366-01A-11D-2114-08	9917209	37881014	43314196	34	8039											
SOX9	6662	broad.mit.edu	37	chr17	70120224	70120226	+	In_Frame_Del	DEL	AGC	AGC	-																															gagccccagccactacagcgAgcagcagcagcactcgcccc																										TCGA-G9-6366-01A-11D-2114-08	TCGA-G9-6366-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0042c94-9802-4593-9dd8-4352538c6bc7	39351351-11d3-499d-8fec-7bf34f38d3c5	g.chr17:70120224_70120226delAGC	ENST00000245479.2	+	3	1598_1600	c.1226_1228delAGC	c.(1225-1230)gagcag>gag	p.Q412del		NM_000346.3	NP_000337.1	P48436	SOX9_HUMAN	SRY (sex determining region Y)-box 9	412					astrocyte fate commitment (GO:0060018)|branching involved in ureteric bud morphogenesis (GO:0001658)|cAMP-mediated signaling (GO:0019933)|cartilage condensation (GO:0001502)|cartilage development (GO:0051216)|cell fate specification (GO:0001708)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to heparin (GO:0071504)|cellular response to interleukin-1 (GO:0071347)|cellular response to mechanical stimulus (GO:0071260)|cellular response to retinoic acid (GO:0071300)|cellular response to transforming growth factor beta stimulus (GO:0071560)|chondrocyte differentiation involved in endochondral bone morphogenesis (GO:0003413)|chondrocyte hypertrophy (GO:0003415)|chromatin remodeling (GO:0006338)|cochlea morphogenesis (GO:0090103)|cytoskeleton organization (GO:0007010)|endocardial cushion morphogenesis (GO:0003203)|endocrine pancreas development (GO:0031018)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell proliferation involved in prostatic bud elongation (GO:0060517)|epithelial to mesenchymal transition (GO:0001837)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|ERK1 and ERK2 cascade (GO:0070371)|extracellular matrix organization (GO:0030198)|hair follicle development (GO:0001942)|heart valve development (GO:0003170)|heart valve formation (GO:0003188)|heart valve morphogenesis (GO:0003179)|intestinal epithelial structure maintenance (GO:0060729)|intrahepatic bile duct development (GO:0035622)|limb bud formation (GO:0060174)|lung epithelial cell differentiation (GO:0060487)|male germ-line sex determination (GO:0019100)|male gonad development (GO:0008584)|mammary gland development (GO:0030879)|metanephric nephron tubule formation (GO:0072289)|morphogenesis of a branching epithelium (GO:0061138)|negative regulation of apoptotic process (GO:0043066)|negative regulation of biomineral tissue development (GO:0070168)|negative regulation of bone mineralization (GO:0030502)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of epithelial cell differentiation (GO:0030857)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of immune system process (GO:0002683)|negative regulation of mesenchymal cell apoptotic process (GO:2001054)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of ossification (GO:0030279)|negative regulation of photoreceptor cell differentiation (GO:0046533)|negative regulation of transcription, DNA-templated (GO:0045892)|neural crest cell development (GO:0014032)|notochord development (GO:0030903)|nucleosome assembly (GO:0006334)|oligodendrocyte differentiation (GO:0048709)|ossification (GO:0001503)|otic vesicle formation (GO:0030916)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of cartilage development (GO:0061036)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell proliferation involved in heart morphogenesis (GO:2000138)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of extracellular matrix assembly (GO:1901203)|positive regulation of kidney development (GO:0090184)|positive regulation of male gonad development (GO:2000020)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of mesenchymal stem cell differentiation (GO:2000741)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland development (GO:0030850)|protein complex assembly (GO:0006461)|protein kinase B signaling (GO:0043491)|regulation of apoptotic process (GO:0042981)|regulation of branching involved in lung morphogenesis (GO:0061046)|regulation of cell adhesion (GO:0030155)|regulation of cell cycle process (GO:0010564)|regulation of cell proliferation (GO:0042127)|regulation of cell proliferation involved in tissue homeostasis (GO:0060784)|regulation of epithelial cell proliferation involved in lung morphogenesis (GO:2000794)|renal vesicle induction (GO:0072034)|retina development in camera-type eye (GO:0060041)|retinal rod cell differentiation (GO:0060221)|Sertoli cell development (GO:0060009)|Sertoli cell differentiation (GO:0060008)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)|somatic stem cell maintenance (GO:0035019)|spermatogenesis (GO:0007283)|tissue homeostasis (GO:0001894)|transcription from RNA polymerase II promoter (GO:0006366)|ureter morphogenesis (GO:0072197)|ureter smooth muscle cell differentiation (GO:0072193)|ureter urothelium development (GO:0072190)	nuclear transcription factor complex (GO:0044798)|nucleus (GO:0005634)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|core promoter sequence-specific DNA binding (GO:0001046)|enhancer binding (GO:0035326)|enhancer sequence-specific DNA binding (GO:0001158)|pre-mRNA intronic binding (GO:0097157)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase activity (GO:0004672)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(2)|kidney(4)|large_intestine(11)|lung(5)|pancreas(1)|upper_aerodigestive_tract(2)	26		Colorectal(1115;0.245)	STAD - Stomach adenocarcinoma(260;0.119)			CACTACAGCGAGCAGCAGCAGCA	0.65																																					Pancreas(42;83 1041 2320 35205 39456)	ENST00000245479.2																			0				breast(1)|endometrium(2)|kidney(4)|large_intestine(11)|lung(5)|pancreas(1)|upper_aerodigestive_tract(2)	26						c.(1225-1230)gag>g		SRY (sex determining region Y)-box 9																																				SO:0001651	inframe_deletion	6662				cAMP-mediated signaling|negative regulation of transcription, DNA-dependent|positive regulation of branching involved in ureteric bud morphogenesis|protein complex assembly|renal vesicle induction	nucleus|protein complex	core promoter sequence-specific DNA binding|enhancer binding|protein kinase A catalytic subunit binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription	g.chr17:70120224_70120226delAGC	S74506	CCDS11689.1	17q24.3	2013-10-17	2008-07-31		ENSG00000125398	ENSG00000125398		"SRY (sex determining region Y)-boxes"	11204	protein-coding gene	gene with protein product		608160	"campomelic dysplasia, autosomal sex-reversal"	CMD1, CMPD1		8348155	Standard	NM_000346		Approved	SRA1	uc002jiw.3	P48436	OTTHUMG00000166300	ENST00000245479.2:c.1226_1228delAGC	17.37:g.70120233_70120235delAGC	ENSP00000245479:p.Gln412del						p.EQ409del	NM_000346.3	NP_000337.1	P48436	SOX9_HUMAN	STAD - Stomach adenocarcinoma(260;0.119)		3	1598_1600	+		Colorectal(1115;0.245)	409					Q53Y80	In_Frame_Del	DEL	ENST00000245479.2	37	c.1226_1228delAGC	CCDS11689.1																																																																																				0.65	SOX9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389032.1	NM_000346		8	277						8	277	---	---	---	---	-	70120226	AGC	-	70120224	7	5	167	1	0	1	0	1	0	0	0	0	14958	304	11	0	1236	0	SOX9	17	70120224	In_Frame_Del	DEL	AGC	TCGA-G9-6366-01A-11D-2114-08	32239210	70120224	11074986	35	8040											
POTEC	388468	broad.mit.edu	37	chr18	14542963	14542963	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagtggtggcaacacttgccCatcttgctcctgagcatctt	7	12	9	13	0	2	1	0	1	2	0	3	1	3	1	2	2	4	3	2	2	1	3			TCGA-G9-6366-01A-11D-2114-08	TCGA-G9-6366-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0042c94-9802-4593-9dd8-4352538c6bc7	39351351-11d3-499d-8fec-7bf34f38d3c5	g.chr18:14542963C>T	ENST00000358970.5	-	1	182	c.183G>A	c.(181-183)atG>atA	p.M61I	POTEC_ENST00000389891.4_5'UTR	NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN	POTE ankyrin domain family, member C	61										NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						AACACTTGCCCATCTTGCTCC	0.577																																						ENST00000358970.5																			0				NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						c.(181-183)atG>atA		POTE ankyrin domain family, member C							67	74	72					18																	14542963		692	1591	2283	SO:0001583	missense	388468							g.chr18:14542963C>T	BX649118	CCDS45835.1	18p11.21	2013-01-10	2008-11-26	2008-11-26	ENSG00000183206	ENSG00000183206		"POTE ankyrin domain containing", "Ankyrin repeat domain containing"	33894	protein-coding gene	gene with protein product	"cancer/testis antigen family 104, member 6"		"ANKRD26-like family B, member 2"	A26B2			Standard	NM_001137671		Approved	POTE18, POTE-18, DKFZp686J0529, CT104.6	uc010dln.3	B2RU33	OTTHUMG00000162963	ENST00000358970.5:c.183G>A	18.37:g.14542963C>T	ENSP00000351856:p.Met61Ile					POTEC_ENST00000389891.4_5'UTR	p.M61I	NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN			1	182	-			61						Missense_Mutation	SNP	ENST00000358970.5	37	c.183G>A	CCDS45835.1	.	.	.	.	.	.	.	.	.	.	C	11.36	1.616678	0.28801	.	.	ENSG00000183206	ENST00000358970;ENST00000389891	T	0.31510	1.49	0.448	0.448	0.16614	.	.	.	.	.	T	0.33381	0.0861	L	0.46157	1.445	0.09310	N	1	P	0.41159	0.74	P	0.48425	0.577	T	0.22695	-1.0209	8	0.66056	D	0.02	.	.	.	.	.	61	B2RU33	POTEC_HUMAN	I	61	ENSP00000351856:M61I	ENSP00000351856:M61I	M	-	3	0	POTEC	14532963	0.009000	0.17119	0.006000	0.13384	0.029000	0.11900	-0.070000	0.11523	0.479000	0.27511	0.186000	0.17326	ATG		0.577	POTEC-002	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371179.1	XM_496269		36	316	0	0	0	1	0	36	316					T	14542963	C	T	14542963	3	4	167	1	0	0	0	0	1	0	0	0	12262	594	21	3	1489	3	POTEC	18	14542963	Missense_Mutation	SNP	C	TCGA-G9-6366-01A-11D-2114-08		14542963	63534285	36	8041											
MOCOS	55034	broad.mit.edu	37	chr18	33840082	33840082	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atattattatcaatggaaaaAgggcttttgaagaagagaaa	19	11	9	2	0	1	3	1	1	0	2	1	5	1	4	0	2	0	1	0	2	9	5			TCGA-G9-6366-01A-11D-2114-08	TCGA-G9-6366-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0042c94-9802-4593-9dd8-4352538c6bc7	39351351-11d3-499d-8fec-7bf34f38d3c5	g.chr18:33840082A>G	ENST00000261326.5	+	13	2374	c.2353A>G	c.(2353-2355)Agg>Ggg	p.R785G	MOCOS_ENST00000588132.1_3'UTR	NM_017947.2	NP_060417.2			molybdenum cofactor sulfurase											breast(2)|endometrium(5)|kidney(1)|large_intestine(10)|liver(1)|lung(15)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						CAATGGAAAAAGGGCTTTTGA	0.393																																						ENST00000261326.5																			0				breast(2)|endometrium(5)|kidney(1)|large_intestine(10)|liver(1)|lung(15)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						c.(2353-2355)Agg>Ggg		molybdenum cofactor sulfurase	Pyridoxal Phosphate(DB00114)						191	189	190					18																	33840082		2203	4300	6503	SO:0001583	missense	55034				Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol	lyase activity|Mo-molybdopterin cofactor sulfurase activity|molybdenum ion binding|pyridoxal phosphate binding	g.chr18:33840082A>G	AK000740	CCDS11919.1	18q12	2003-12-18			ENSG00000075643	ENSG00000075643			18234	protein-coding gene	gene with protein product		613274				11302742	Standard	NM_017947		Approved	HMCS, FLJ20733, MOS	uc002kzq.4	Q96EN8	OTTHUMG00000132590	ENST00000261326.5:c.2353A>G	18.37:g.33840082A>G	ENSP00000261326:p.Arg785Gly					MOCOS_ENST00000588132.1_3'UTR	p.R785G	NM_017947.2	NP_060417.2	Q96EN8	MOCOS_HUMAN			13	2374	+			785			MOSC.			Missense_Mutation	SNP	ENST00000261326.5	37	c.2353A>G	CCDS11919.1	.	.	.	.	.	.	.	.	.	.	A	11.82	1.751723	0.31046	.	.	ENSG00000075643	ENST00000261326	T	0.37058	1.22	5.75	1.93	0.25924	Pyruvate kinase-like, insert domain (1);Molybdenum cofactor sulfurase, C-terminal (2);	0.406106	0.30649	N	0.009161	T	0.23611	0.0571	L	0.41710	1.295	0.09310	N	1	B	0.09022	0.002	B	0.16722	0.016	T	0.09729	-1.0661	10	0.29301	T	0.29	-6.3124	4.4459	0.11597	0.6578:0.1684:0.1738:0.0	.	785	Q96EN8	MOCOS_HUMAN	G	785	ENSP00000261326:R785G	ENSP00000261326:R785G	R	+	1	2	MOCOS	32094080	0.007000	0.16637	0.496000	0.27539	0.860000	0.49131	1.439000	0.35013	0.996000	0.38943	0.460000	0.39030	AGG		0.393	MOCOS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255801.1			3	158	0	0	0	1	0	3	158					G	33840082	A	G	33840082	3	3	167	1	0	0	0	0	1	0	0	0	9689	63	3	4	2403	4	MOCOS	18	33840082	Missense_Mutation	SNP	A	TCGA-G9-6366-01A-11D-2114-08	19297119	33840082	44237166	37	8042											
TYK2	7297	broad.mit.edu	37	chr19	10468472	10468472	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcggctctgcagaggggcctCtccgtcaaagcagatctcca	8	7	12	14	2	4	2	1	0	3	2	6	2	4	2	3	3	2	3	3	3	1	0			TCGA-G9-6366-01A-11D-2114-08	TCGA-G9-6366-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0042c94-9802-4593-9dd8-4352538c6bc7	39351351-11d3-499d-8fec-7bf34f38d3c5	g.chr19:10468472C>A	ENST00000525621.1	-	17	2915	c.2434G>T	c.(2434-2436)Gag>Tag	p.E812*	TYK2_ENST00000529370.1_Nonsense_Mutation_p.E812*|TYK2_ENST00000264818.6_Nonsense_Mutation_p.E812*|TYK2_ENST00000524462.1_Nonsense_Mutation_p.E627*	NM_003331.4	NP_003322.3	P29597	TYK2_HUMAN	tyrosine kinase 2	812	Protein kinase 1. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cytokine-mediated signaling pathway (GO:0019221)|intracellular signal transduction (GO:0035556)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein phosphorylation (GO:0006468)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|growth hormone receptor binding (GO:0005131)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			breast(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(11)|kidney(6)|large_intestine(3)|lung(19)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64			OV - Ovarian serous cystadenocarcinoma(20;1.77e-09)|Epithelial(33;3.92e-06)|all cancers(31;8.95e-06)			AGAGGGGCCTCTCCGTCAAAG	0.642																																						ENST00000525621.1																			0				breast(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(11)|kidney(6)|large_intestine(3)|lung(19)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64						c.(2434-2436)Gag>Tag		tyrosine kinase 2							29	28	28					19																	10468472		2202	4300	6502	SO:0001587	stop_gained	7297				intracellular protein kinase cascade|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway	cytoskeleton|cytosol|membrane|nucleus	ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity	g.chr19:10468472C>A		CCDS12236.1	19p13.2	2014-09-17			ENSG00000105397	ENSG00000105397	2.7.10.1		12440	protein-coding gene	gene with protein product		176941				2156206	Standard	NM_003331		Approved	JTK1	uc002moc.4	P29597	OTTHUMG00000166373	ENST00000525621.1:c.2434G>T	19.37:g.10468472C>A	ENSP00000431885:p.Glu812*					TYK2_ENST00000264818.6_Nonsense_Mutation_p.E812*|TYK2_ENST00000524462.1_Nonsense_Mutation_p.E627*|TYK2_ENST00000529370.1_Nonsense_Mutation_p.E812*	p.E812*	NM_003331.4	NP_003322.3	P29597	TYK2_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;1.77e-09)|Epithelial(33;3.92e-06)|all cancers(31;8.95e-06)		17	2915	-			812			Protein kinase 1.		Q6QB10|Q96CH0	Nonsense_Mutation	SNP	ENST00000525621.1	37	c.2434G>T	CCDS12236.1	.	.	.	.	.	.	.	.	.	.	C	40	8.325824	0.98762	.	.	ENSG00000105397	ENST00000524462;ENST00000525621;ENST00000264818;ENST00000543792;ENST00000529370	.	.	.	4.86	4.86	0.63082	.	0.000000	0.51477	D	0.000085	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	-25.1044	15.5125	0.75795	0.0:1.0:0.0:0.0	.	.	.	.	X	627;812;812;559;812	.	ENSP00000264818:E812X	E	-	1	0	TYK2	10329472	1.000000	0.71417	0.944000	0.38274	0.026000	0.11368	5.521000	0.67086	2.521000	0.84997	0.655000	0.94253	GAG		0.642	TYK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389443.1			10	21	1	0	0.000978159	1	0.00102474	10	21					A	10468472	C	A	10468472	4	1	167	1	0	0	0	0	0	1	0	0	16807	922	32	5	1165	5	TYK2	19	10468472	Nonsense_Mutation	SNP	C	TCGA-G9-6366-01A-11D-2114-08		10468472	48660511	38	8043											
ARHGAP33	115703	broad.mit.edu	37	chr19	36275140	36275140	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgggaagttcgggtgcagtcGgtggtggtggagtttctgct	4	12	19	6	3	1	0	0	0	1	0	3	2	1	2	0	6	2	4	0	6	1	2			TCGA-G9-6366-01A-11D-2114-08	TCGA-G9-6366-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0042c94-9802-4593-9dd8-4352538c6bc7	39351351-11d3-499d-8fec-7bf34f38d3c5	g.chr19:36275140G>A	ENST00000007510.4	+	16	1632	c.1488G>A	c.(1486-1488)tcG>tcA	p.S496S	ARHGAP33_ENST00000314737.5_Silent_p.S496S|ARHGAP33_ENST00000378944.5_Silent_p.S360S			O14559	RHG33_HUMAN	Rho GTPase activating protein 33	496	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				protein transport (GO:0015031)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	phosphatidylinositol binding (GO:0035091)|Rac GTPase activator activity (GO:0030675)			endometrium(7)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	37						GGGTGCAGTCGGTGGTGGTGG	0.672																																						ENST00000007510.4																			0				endometrium(7)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	37						c.(1486-1488)tcG>tcA		Rho GTPase activating protein 33							277	223	241					19																	36275140		2203	4300	6503	SO:0001819	synonymous_variant	115703				cell communication|protein transport|signal transduction	intracellular	GTPase activator activity|phosphatidylinositol binding|protein binding	g.chr19:36275140G>A	AY044864	CCDS12477.1, CCDS54254.1	19q13.13	2011-06-29	2010-02-19	2010-02-19		ENSG00000004777		"Rho GTPase activating proteins"	23085	protein-coding gene	gene with protein product		614902	"sorting nexin 26"	SNX26		12297274, 12461558	Standard	NM_052948		Approved	FLJ39019, TCGAP	uc002obs.2	O14559		ENST00000007510.4:c.1488G>A	19.37:g.36275140G>A						ARHGAP33_ENST00000378944.5_Silent_p.S360S|ARHGAP33_ENST00000314737.5_Silent_p.S496S	p.S496S			O14559	RHG33_HUMAN			16	1632	+			496			Rho-GAP.		O14552|O14560|Q6ZSP6|Q96CP3|Q9NT23	Silent	SNP	ENST00000007510.4	37	c.1488G>A																																																																																					0.672	ARHGAP33-201	KNOWN	basic	protein_coding	protein_coding		NM_052948		55	109	0	0	0	1	0	55	109					A	36275140	G	A	36275140	2	1	167	1	0	0	0	0	0	0	0	1	882	1103	39	2		2	ARHGAP33	19	36275140	Silent	SNP	G	TCGA-G9-6366-01A-11D-2114-08	25806668	36275140	22853843	39	8044											
LRFN3	79414	broad.mit.edu	37	chr19	36431457	36431457	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgcagctggcgaggccacagCtgctgtggagctgactgtgg	6	8	17	10	1	0	1	0	1	0	0	0	3	0	2	1	4	5	5	1	4	0	0			TCGA-G9-6366-01A-11D-2114-08	TCGA-G9-6366-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0042c94-9802-4593-9dd8-4352538c6bc7	39351351-11d3-499d-8fec-7bf34f38d3c5	g.chr19:36431457C>G	ENST00000588831.1	+	3	2184	c.1130C>G	c.(1129-1131)gCt>gGt	p.A377G	LRFN3_ENST00000246529.3_Missense_Mutation_p.A377G			Q9BTN0	LRFN3_HUMAN	leucine rich repeat and fibronectin type III domain containing 3	377	Ig-like.				cell adhesion (GO:0007155)	cell junction (GO:0030054)|cell projection (GO:0042995)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)				cervix(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)	12	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			GAGGCCACAGCTGCTGTGGAG	0.662																																						ENST00000588831.1																			0				cervix(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)	12						c.(1129-1131)gCt>gGt		leucine rich repeat and fibronectin type III domain containing 3							31	28	29					19																	36431457		2203	4299	6502	SO:0001583	missense	79414				cell adhesion	axon|cell junction|dendrite|integral to membrane|postsynaptic membrane|presynaptic membrane		g.chr19:36431457C>G	BC003578	CCDS12483.1	19q13.13	2013-02-11				ENSG00000126243		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	28370	protein-coding gene	gene with protein product	"fibronectin type III, immunoglobulin and leucine rich repeat domains 1"	612809				12975309, 16495444, 16828986	Standard	NM_024509		Approved	MGC2656, SALM4, FIGLER1	uc002oco.3	Q9BTN0		ENST00000588831.1:c.1130C>G	19.37:g.36431457C>G	ENSP00000466989:p.Ala377Gly					LRFN3_ENST00000246529.3_Missense_Mutation_p.A377G	p.A377G			Q9BTN0	LRFN3_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.06)		3	2184	+	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		377			Ig-like.		Q6UY10	Missense_Mutation	SNP	ENST00000588831.1	37	c.1130C>G	CCDS12483.1	.	.	.	.	.	.	.	.	.	.	C	19.13	3.767718	0.69878	.	.	ENSG00000126243	ENST00000246529	T	0.69806	-0.43	5.01	5.01	0.66863	Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.36234	N	0.002701	T	0.73513	0.3596	M	0.67700	2.07	0.51482	D	0.999929	B	0.28584	0.216	B	0.42771	0.397	T	0.73414	-0.3990	10	0.45353	T	0.12	.	15.791	0.78364	0.0:1.0:0.0:0.0	.	377	Q9BTN0	LRFN3_HUMAN	G	377	ENSP00000246529:A377G	ENSP00000246529:A377G	A	+	2	0	LRFN3	41123297	0.992000	0.36948	0.930000	0.37139	0.940000	0.58332	3.187000	0.50950	2.320000	0.78422	0.591000	0.81541	GCT		0.662	LRFN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457403.2	NM_024509		8	29	0	0	0	1	0	8	29					G	36431457	C	G	36431457	3	3	167	1	0	0	0	0	1	0	0	0	8939	797	28	5	1132	5	LRFN3	19	36431457	Missense_Mutation	SNP	C	TCGA-G9-6366-01A-11D-2114-08	156317	36431457	22697526	40	8045											
NINL	22981	broad.mit.edu	37	chr20	25439071	25439071	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccctgaaggctgagcaggCgatgcagctcggccacacgg	8	5	14	14	3	0	2	0	2	0	0	2	3	1	2	2	4	3	4	2	4	1	0			TCGA-G9-6366-01A-11D-2114-08	TCGA-G9-6366-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0042c94-9802-4593-9dd8-4352538c6bc7	39351351-11d3-499d-8fec-7bf34f38d3c5	g.chr20:25439071C>T	ENST00000278886.6	-	22	3864	c.3791G>A	c.(3790-3792)cGc>cAc	p.R1264H	NINL_ENST00000464285.1_5'UTR|NINL_ENST00000422516.1_Missense_Mutation_p.R915H	NM_025176.4	NP_079452.3	Q9Y2I6	NINL_HUMAN	ninein-like	1264					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	cytosol (GO:0005829)|microtubule (GO:0005874)	calcium ion binding (GO:0005509)	p.R1264L(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(13)|lung(25)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	57						GCTGAGCAGGCGATGCAGCTC	0.667																																						ENST00000278886.6																			1	Substitution - Missense(1)	p.R1264L(1)	lung(1)	breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(13)|lung(25)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	57						c.(3790-3792)cGc>cAc		ninein-like							46	39	41					20																	25439071		2203	4300	6503	SO:0001583	missense	22981				G2/M transition of mitotic cell cycle	cytosol|microtubule|microtubule organizing center	calcium ion binding	g.chr20:25439071C>T		CCDS33452.1	20p11.22-p11.1	2013-01-10			ENSG00000101004	ENSG00000101004		"EF-hand domain containing"	29163	protein-coding gene	gene with protein product	"ninein-like protein"	609580				10231032	Standard	XM_005260678		Approved	KIAA0980, NLP	uc002wux.1	Q9Y2I6	OTTHUMG00000032127	ENST00000278886.6:c.3791G>A	20.37:g.25439071C>T	ENSP00000278886:p.Arg1264His					NINL_ENST00000422516.1_Missense_Mutation_p.R915H|NINL_ENST00000464285.1_5'UTR	p.R1264H	NM_025176.4	NP_079452.3	Q9Y2I6	NINL_HUMAN			22	3864	-			1264					A6NJN0|B3V9H6|B7Z1V8|Q5JYP0|Q8NE38|Q9NQE3	Missense_Mutation	SNP	ENST00000278886.6	37	c.3791G>A	CCDS33452.1	.	.	.	.	.	.	.	.	.	.	C	9.771	1.172761	0.21704	.	.	ENSG00000101004	ENST00000278886;ENST00000422516	T;T	0.35421	1.31;1.31	2.78	-5.23	0.02798	.	2.275330	0.01873	N	0.037357	T	0.18257	0.0438	N	0.08118	0	0.09310	N	1	B;B;B	0.17465	0.002;0.022;0.005	B;B;B	0.08055	0.001;0.003;0.003	T	0.16276	-1.0408	10	0.19590	T	0.45	-3.8533	9.5935	0.39561	0.0:0.3777:0.0:0.6223	.	915;1264;55	Q9Y2I6-2;Q9Y2I6;Q9HAD5	.;NINL_HUMAN;.	H	1264;915	ENSP00000278886:R1264H;ENSP00000410431:R915H	ENSP00000278886:R1264H	R	-	2	0	NINL	25387071	0.005000	0.15991	0.002000	0.10522	0.028000	0.11728	-1.676000	0.01946	-1.447000	0.01943	-1.484000	0.00983	CGC		0.667	NINL-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078445.3	NM_025176		12	42	0	0	0	1	0	12	42					T	25439071	C	T	25439071	3	4	167	1	0	0	0	0	1	0	0	0	10420	768	27	1	369	1	NINL	20	25439071	Missense_Mutation	SNP	C	TCGA-G9-6366-01A-11D-2114-08		25439071	37586449	41	8046											
MYT1	4661	broad.mit.edu	37	chr20	62851156	62851156	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgctttccccagcagcagcAgctgcagcagcagccccggt	8	6	11	16	1	0	0	0	0	0	0	1	0	1	0	4	1	9	8	4	1	0	1			TCGA-G9-6366-01A-11D-2114-08	TCGA-G9-6366-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0042c94-9802-4593-9dd8-4352538c6bc7	39351351-11d3-499d-8fec-7bf34f38d3c5	g.chr20:62851156A>T	ENST00000328439.1	+	13	2426	c.2062A>T	c.(2062-2064)Agc>Tgc	p.S688C	MYT1_ENST00000360149.4_Missense_Mutation_p.S390C|MYT1_ENST00000536311.1_Missense_Mutation_p.S715C	NM_004535.2	NP_004526.1	Q99640	PMYT1_HUMAN	myelin transcription factor 1	0					G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of phosphatase activity (GO:0010923)|regulation of cell cycle (GO:0051726)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of mitosis (GO:0007088)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					cagcagcagcagctgcagcag	0.602																																					GBM(59;481 1041 20555 21139 33705)	ENST00000536311.1																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						c.(2143-2145)Agc>Tgc		myelin transcription factor 1							54	54	54					20																	62851156		2203	4300	6503	SO:0001583	missense	4661				cell differentiation|nervous system development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr20:62851156A>T	M96980	CCDS13558.1	20q13.33	2014-03-24			ENSG00000196132	ENSG00000196132		"Zinc fingers, C2HC-type containing"	7622	protein-coding gene	gene with protein product	"neural zinc finger transcription factor 2"	600379		PLPB1		1280325, 9268380	Standard	NM_004535		Approved	MTF1, MYTI, ZC2HC4A, NZF2	uc002yii.3	Q01538	OTTHUMG00000149988	ENST00000328439.1:c.2062A>T	20.37:g.62851156A>T	ENSP00000327465:p.Ser688Cys					MYT1_ENST00000328439.1_Missense_Mutation_p.S688C|MYT1_ENST00000360149.4_Missense_Mutation_p.S390C	p.S715C			Q01538	MYT1_HUMAN			13	2507	+	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)		688			Ser-rich.		B3KUN8|B4DXD4|D3DUA4|F8W164|I3L1V2|O14731|Q7LE24|Q8TCM9	Missense_Mutation	SNP	ENST00000328439.1	37	c.2143A>T	CCDS13558.1	.	.	.	.	.	.	.	.	.	.	A	13.08	2.129686	0.37630	.	.	ENSG00000196132	ENST00000360149;ENST00000328439;ENST00000536311	T;T;T	0.59364	0.27;0.27;0.27	5.2	5.2	0.72013	Myelin transcription factor 1 (1);	0.000000	0.64402	D	0.000001	T	0.72486	0.3466	L	0.58101	1.795	0.54753	D	0.999989	D;D;D	0.89917	0.999;1.0;0.999	D;D;D	0.85130	0.951;0.984;0.997	T	0.75088	-0.3441	10	0.62326	D	0.03	-14.7975	15.0524	0.71885	1.0:0.0:0.0:0.0	.	715;688;390	F5H7M8;Q01538;Q6P6D5	.;MYT1_HUMAN;.	C	390;688;715	ENSP00000353269:S390C;ENSP00000327465:S688C;ENSP00000442412:S715C	ENSP00000327465:S688C	S	+	1	0	MYT1	62321600	1.000000	0.71417	0.991000	0.47740	0.163000	0.22366	2.740000	0.47418	1.947000	0.56498	0.533000	0.62120	AGC		0.602	MYT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080297.1	NM_004535		3	32	0	0	0	1	0	3	32					T	62851156	A	T	62851156	3	4	167	1	0	0	0	0	1	0	0	0	10106	188	7	5	2104	5	MYT1	20	62851156	Missense_Mutation	SNP	A	TCGA-G9-6366-01A-11D-2114-08	37412085	62851156	174364	42	8047											
TSSK2	23617	broad.mit.edu	37	chr22	19119476	19119476	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gcagcccccgaggtgctgcaGagcatcccctaccagcccaa	9	4	10	18	1	0	1	0	0	0	1	1	2	1	1	6	1	6	4	6	1	2	1			TCGA-G9-6366-01A-11D-2114-08	TCGA-G9-6366-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0042c94-9802-4593-9dd8-4352538c6bc7	39351351-11d3-499d-8fec-7bf34f38d3c5	g.chr22:19119476G>C	ENST00000399635.2	+	1	1156	c.564G>C	c.(562-564)caG>caC	p.Q188H	DGCR14_ENST00000252137.6_3'UTR	NM_053006.4	NP_443732.3	Q96PF2	TSSK2_HUMAN	testis-specific serine kinase 2	188	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				multicellular organismal development (GO:0007275)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|spermatid development (GO:0007286)	acrosomal vesicle (GO:0001669)|centriole (GO:0005814)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			endometrium(2)|large_intestine(2)|lung(2)|prostate(4)|stomach(1)	11	Colorectal(54;0.0993)					AGGTGCTGCAGAGCATCCCCT	0.602																																						ENST00000399635.2																			0				endometrium(2)|large_intestine(2)|lung(2)|prostate(4)|stomach(1)	11						c.(562-564)caG>caC		testis-specific serine kinase 2							85	87	86					22																	19119476		2203	4300	6503	SO:0001583	missense	23617				cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity	g.chr22:19119476G>C	AF362953	CCDS13755.1	22q11.21	2007-01-30	2005-03-10	2005-03-12	ENSG00000206203	ENSG00000206203			11401	protein-coding gene	gene with protein product		610710	"serine/threonine kinase 22B (spermiogenesis associated)"	STK22B		10591208	Standard	NM_053006		Approved	SPOGA2, FLJ38613	uc002zow.2	Q96PF2	OTTHUMG00000150118	ENST00000399635.2:c.564G>C	22.37:g.19119476G>C	ENSP00000382544:p.Gln188His					DGCR14_ENST00000252137.6_3'UTR	p.Q188H	NM_053006.4	NP_443732.3	Q96PF2	TSSK2_HUMAN			1	1156	+	Colorectal(54;0.0993)		188			Protein kinase.		Q8IY55	Missense_Mutation	SNP	ENST00000399635.2	37	c.564G>C	CCDS13755.1	.	.	.	.	.	.	.	.	.	.	G	15.31	2.795978	0.50208	.	.	ENSG00000206203	ENST00000399635	T	0.66815	-0.23	5.34	4.32	0.51571	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.47455	D	0.000231	T	0.68192	0.2974	L	0.31294	0.92	0.28323	N	0.922162	D	0.62365	0.991	D	0.69654	0.965	T	0.61978	-0.6951	10	0.72032	D	0.01	.	7.3191	0.26517	0.2568:0.0:0.7432:0.0	.	188	Q96PF2	TSSK2_HUMAN	H	188	ENSP00000382544:Q188H	ENSP00000382544:Q188H	Q	+	3	2	TSSK2	17499476	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	0.782000	0.26788	1.239000	0.43787	0.655000	0.94253	CAG		0.602	TSSK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316431.1			34	96	0	0	0	1	0	34	96					C	19119476	G	C	19119476	3	2	167	1	0	0	0	0	1	0	0	0	16666	933	33	5	566	5	TSSK2	22	19119476	Missense_Mutation	SNP	G	TCGA-G9-6366-01A-11D-2114-08		19119476	32185090	43	8048											
CABIN1	23523	broad.mit.edu	37	chr22	24460518	24460518	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggagacatggagcaggccctGgagaactatgacatctgcac	12	6	13	10	0	1	3	0	1	1	2	1	6	1	4	1	4	3	2	1	4	2	1			TCGA-G9-6366-01A-11D-2114-08	TCGA-G9-6366-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0042c94-9802-4593-9dd8-4352538c6bc7	39351351-11d3-499d-8fec-7bf34f38d3c5	g.chr22:24460518G>A	ENST00000398319.2	+	15	2290	c.1905G>A	c.(1903-1905)ctG>ctA	p.L635L	CABIN1_ENST00000405822.2_Silent_p.L585L|CABIN1_ENST00000263119.5_Silent_p.L635L	NM_001199281.1	NP_001186210.1	Q9Y6J0	CABIN_HUMAN	calcineurin binding protein 1	635					cell surface receptor signaling pathway (GO:0007166)|chromatin modification (GO:0016568)|DNA replication-independent nucleosome assembly (GO:0006336)|negative regulation of catalytic activity (GO:0043086)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein phosphatase inhibitor activity (GO:0004864)			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						AGCAGGCCCTGGAGAACTATG	0.532																																						ENST00000398319.2																			0				breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						c.(1903-1905)ctG>ctA		calcineurin binding protein 1							225	214	218					22																	24460518		2203	4300	6503	SO:0001819	synonymous_variant	23523				cell surface receptor linked signaling pathway|chromatin modification	nucleus	protein phosphatase inhibitor activity	g.chr22:24460518G>A	AF072441	CCDS13823.1, CCDS74830.1	22q11.23	2008-09-16			ENSG00000099991	ENSG00000099991			24187	protein-coding gene	gene with protein product		604251				9655484, 9205841	Standard	NM_001199281		Approved	KIAA0330, PPP3IN	uc002zzi.1	Q9Y6J0	OTTHUMG00000150797	ENST00000398319.2:c.1905G>A	22.37:g.24460518G>A						CABIN1_ENST00000263119.5_Silent_p.L635L|CABIN1_ENST00000405822.2_Silent_p.L585L	p.L635L	NM_001199281.1	NP_001186210.1	Q9Y6J0	CABIN_HUMAN			15	2290	+			635					G5E9F3|Q6PHY0|Q9Y460	Silent	SNP	ENST00000398319.2	37	c.1905G>A	CCDS13823.1																																																																																				0.532	CABIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320161.2	NM_012295		9	329	0	0	0	1	0	9	329					A	24460518	G	A	24460518	2	1	167	1	0	0	0	0	0	0	0	1	2528	1335	47	3		3	CABIN1	22	24460518	Silent	SNP	G	TCGA-G9-6366-01A-11D-2114-08	5341042	24460518	26844048	44	8049											
EP300	2033	broad.mit.edu	37	chr22	41573977	41573977	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tggctgcattcatcaagcagCgggctgccaagtatgccaac	10	8	11	12	1	2	0	2	0	0	0	2	0	2	0	2	2	6	5	2	2	4	2	rs201569846		TCGA-G9-6366-01A-11D-2114-08	TCGA-G9-6366-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0042c94-9802-4593-9dd8-4352538c6bc7	39351351-11d3-499d-8fec-7bf34f38d3c5	g.chr22:41573977C>T	ENST00000263253.7	+	31	7481	c.6262C>T	c.(6262-6264)Cgg>Tgg	p.R2088W	RP1-85F18.6_ENST00000415054.1_RNA|RP1-85F18.5_ENST00000420537.1_RNA	NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	2088	Interaction with HTLV-1 Tax.|Interaction with NCOA2.	Interaction with NCOA2.			apoptotic process (GO:0006915)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|circadian rhythm (GO:0007623)|G2/M transition of mitotic cell cycle (GO:0000086)|heart development (GO:0007507)|histone H2B acetylation (GO:0043969)|histone H4 acetylation (GO:0043967)|innate immune response (GO:0045087)|internal peptidyl-lysine acetylation (GO:0018393)|internal protein amino acid acetylation (GO:0006475)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|lung development (GO:0030324)|mitotic cell cycle (GO:0000278)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of protein binding (GO:0032092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of cell cycle (GO:0051726)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|regulation of tubulin deacetylation (GO:0090043)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|skeletal muscle tissue development (GO:0007519)|somitogenesis (GO:0001756)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|activating transcription factor binding (GO:0033613)|androgen receptor binding (GO:0050681)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine N-acetyltransferase activity, acting on acetyl phosphate as donor (GO:0004468)|nuclear hormone receptor binding (GO:0035257)|pre-mRNA intronic binding (GO:0097157)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transferase activity, transferring acyl groups (GO:0016746)|zinc ion binding (GO:0008270)			NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						CATCAAGCAGCGGGCTGCCAA	0.602			"T,  N, F, Mis, O"	"MLL, RUNXBP2"	"colorectal, breast, pancreatic, AML, ALL, DLBCL"				Rubinstein-Taybi syndrome				C|||	1	0.000199681	0	0	5008	,	,		21677	0		0.001	False		,,,				2504	0					ENST00000263253.7				Rec	yes		22	22q13	2033	"T,  N, F, Mis, O"	300 kd E1A-Binding protein gene			"L, E"	"MLL, RUNXBP2"		"colorectal, breast, pancreatic, AML, ALL, DLBCL"		0				NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						c.(6262-6264)Cgg>Tgg		E1A binding protein p300							65	64	64					22																	41573977		2203	4300	6503	SO:0001583	missense	2033	Rubinstein-Taybi syndrome	Familial Cancer Database	Broad Thumb-Hallux syndrome	apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding	g.chr22:41573977C>T	U01877	CCDS14010.1	22q13.2	2011-07-01			ENSG00000100393	ENSG00000100393		"Chromatin-modifying enzymes / K-acetyltransferases"	3373	protein-coding gene	gene with protein product	"histone acetyltransferase p300"	602700				7523245	Standard	NM_001429		Approved	p300, KAT3B	uc003azl.4	Q09472	OTTHUMG00000150937	ENST00000263253.7:c.6262C>T	22.37:g.41573977C>T	ENSP00000263253:p.Arg2088Trp					RP1-85F18.5_ENST00000420537.1_RNA|RP1-85F18.6_ENST00000415054.1_RNA	p.R2088W	NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN			31	7481	+			2088			Interaction with HTLV-1 Tax.|Interaction with NCOA2.	Interaction with NCOA2.	B1AKC2	Missense_Mutation	SNP	ENST00000263253.7	37	c.6262C>T	CCDS14010.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	10.74	1.435095	0.25813	.	.	ENSG00000100393	ENST00000263253	D	0.89415	-2.51	4.94	3.92	0.45320	Nuclear receptor coactivator, CREB-bp-like, interlocking (2);Nuclear receptor coactivator, interlocking (1);	0.000000	0.43919	D	0.000509	D	0.93074	0.7795	M	0.76838	2.35	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	D	0.92554	0.6052	10	0.87932	D	0	-14.1256	8.346	0.32272	0.1536:0.7672:0.0:0.0792	.	2088	Q09472	EP300_HUMAN	W	2088	ENSP00000263253:R2088W	ENSP00000263253:R2088W	R	+	1	2	EP300	39903923	1.000000	0.71417	1.000000	0.80357	0.633000	0.38033	1.010000	0.29898	1.078000	0.41014	-0.258000	0.10820	CGG		0.602	EP300-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320600.1	NM_001429		30	56	0	0	0	1	0	30	56					T	41573977	C	T	41573977	3	4	167	1	0	0	0	0	1	0	0	0	5148	759	27	1	6384	1	EP300	22	41573977	Missense_Mutation	SNP	C	TCGA-G9-6366-01A-11D-2114-08	17113459	41573977	9730589	45	8050											
CHIC1	53344	broad.mit.edu	37	chrX	72783280	72783282	+	In_Frame_Del	DEL	GAG	GAG	-																															atgaggaggaagaggaggaaGaggaggaggaggaagaagag																										TCGA-G9-6366-01A-11D-2114-08	TCGA-G9-6366-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0042c94-9802-4593-9dd8-4352538c6bc7	39351351-11d3-499d-8fec-7bf34f38d3c5	g.chrX:72783280_72783282delGAG	ENST00000373502.5	+	1	237_239	c.160_162delGAG	c.(160-162)gagdel	p.E68del	MAP2K4P1_ENST00000602584.1_RNA|CHIC1_ENST00000373504.6_In_Frame_Del_p.E68del	NM_001039840.2	NP_001034929.2	Q5VXU3	CHIC1_HUMAN	cysteine-rich hydrophobic domain 1	68	Poly-Glu.					cytoplasmic vesicle (GO:0031410)|plasma membrane (GO:0005886)				endometrium(1)|large_intestine(1)|lung(2)	4	Renal(35;0.156)					agaggaggaagaggaggaggagg	0.635																																						ENST00000373504.6																			0				endometrium(1)|large_intestine(1)|lung(2)	4						c.(160-162)del		cysteine-rich hydrophobic domain 1																																				SO:0001651	inframe_deletion	53344					cytoplasmic membrane-bounded vesicle|plasma membrane		g.chrX:72783280_72783282delGAG	Y11897	CCDS35335.2, CCDS75993.1	Xq13.2	2008-05-14			ENSG00000204116	ENSG00000204116			1934	protein-coding gene	gene with protein product		300922				9321471, 11257495	Standard	NM_001039840		Approved	BRX	uc004ebk.4	Q5VXU3	OTTHUMG00000021835	ENST00000373502.5:c.160_162delGAG	X.37:g.72783289_72783291delGAG	ENSP00000362601:p.Glu68del					CHIC1_ENST00000373502.5_In_Frame_Del_p.E68del	p.E68del			Q5VXU3	CHIC1_HUMAN			1	245_247	+	Renal(35;0.156)		68			Poly-Glu.		A0PJZ2|B0QZ87|B9EGS5|Q5CZ84	In_Frame_Del	DEL	ENST00000373502.5	37	c.160_162delGAG	CCDS35335.2																																																																																				0.635	CHIC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057233.3			4	4						4	4	---	---	---	---	-	72783282	GAG	-	72783280	7	5	167	1	0	1	0	1	0	0	0	0	3343	943	33	0	162	0	CHIC1	23	72783280	In_Frame_Del	DEL	GAG	TCGA-G9-6366-01A-11D-2114-08		72783280	82487280	46	8051											
PDZD4	57595	broad.mit.edu	37	chrX	153072793	153072793	+	Frame_Shift_Del	DEL	C	C	-																															gccgccctccataaactccgCcgggtcataatactcatggc																										TCGA-G9-6366-01A-11D-2114-08	TCGA-G9-6366-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0042c94-9802-4593-9dd8-4352538c6bc7	39351351-11d3-499d-8fec-7bf34f38d3c5	g.chrX:153072793delC	ENST00000164640.4	-	3	519	c.328delG	c.(328-330)gcgfs	p.A110fs	PDZD4_ENST00000393758.2_Frame_Shift_Del_p.A35fs|PDZD4_ENST00000475140.1_5'UTR|PDZD4_ENST00000544474.1_Intron	NM_032512.2	NP_115901.2	Q76G19	PDZD4_HUMAN	PDZ domain containing 4	110						cytoplasm (GO:0005737)				breast(3)|cervix(1)|endometrium(5)|lung(13)|skin(1)	23	all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					ATAAACTCCGCCGGGTCATAA	0.667																																						ENST00000164640.4																			0				breast(3)|cervix(1)|endometrium(5)|lung(13)|skin(1)	23						c.(328-330)cgfs		PDZ domain containing 4							25	24	24					X																	153072793		2200	4296	6496	SO:0001589	frameshift_variant	57595					cell cortex		g.chrX:153072793delC	AK091444	CCDS14732.1	Xq28	2008-02-05		2006-01-24	ENSG00000067840	ENSG00000067840			21167	protein-coding gene	gene with protein product		300634		PDZK4		10819331, 15077175	Standard	NM_032512		Approved	KIAA1444, LU1, FLJ34125, PDZRN4L	uc004fiz.1	Q76G19	OTTHUMG00000024209	ENST00000164640.4:c.328delG	X.37:g.153072793delC	ENSP00000164640:p.Ala110fs					PDZD4_ENST00000475140.1_5'UTR|PDZD4_ENST00000393758.2_Frame_Shift_Del_p.A35fs|PDZD4_ENST00000544474.1_Intron	p.A110fs	NM_032512.2	NP_115901.2	Q76G19	PDZD4_HUMAN			3	519	-	all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		110					B3KXB1|B7ZKY3|Q8NB75|Q9BUH9|Q9P284	Frame_Shift_Del	DEL	ENST00000164640.4	37	c.328delG	CCDS14732.1																																																																																				0.667	PDZD4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061013.3	NM_032512		9	18						9	18	---	---	---	---	-	153072793	C	-	153072793	7	5	167	1	0	1	0	1	0	0	0	0	11703	739	26	0	2005	0	PDZD4	23	153072793	Frame_Shift_Del	DEL	C	TCGA-G9-6366-01A-11D-2114-08	80289513	153072793	2197767	47	8052											
RBM15	64783	broad.mit.edu	37	chr1	110884731	110884731	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	taaagcaaaagcaggcagccGgggtgatcagcctccctgtg	11	6	13	11	1	1	1	1	1	0	0	2	1	2	1	3	3	4	3	3	3	4	1			TCGA-G9-6367-01A-11D-1786-08	TCGA-G9-6367-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f76a7b4-1889-4550-a4d1-3c3a0d1a526d	993197fc-ba4c-466d-9cc2-e08c74cd8f45	g.chr1:110884731G>C	ENST00000369784.3	+	1	3604	c.2704G>C	c.(2704-2706)Ggg>Cgg	p.G902R	RBM15_ENST00000487146.2_Missense_Mutation_p.G902R|RBM15_ENST00000602849.1_Missense_Mutation_p.G902R|RP5-1074L1.1_ENST00000449169.1_RNA	NM_022768.4	NP_073605.4	Q96T37	RBM15_HUMAN	RNA binding motif protein 15	902	SPOC. {ECO:0000255|PROSITE- ProRule:PRU00249}.				negative regulation of myeloid cell differentiation (GO:0045638)|patterning of blood vessels (GO:0001569)|placenta blood vessel development (GO:0060674)|positive regulation of transcription of Notch receptor target (GO:0007221)|spleen development (GO:0048536)|ventricular septum morphogenesis (GO:0060412)|viral process (GO:0016032)	membrane (GO:0016020)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.G902R(1)		ovary(3)	3		all_cancers(81;2.89e-06)|all_epithelial(167;2.96e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)|Breast(1374;0.0634)		BRCA - Breast invasive adenocarcinoma(282;0.000224)|Epithelial(280;0.000476)|Kidney(133;0.000539)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|all cancers(265;0.00144)|Lung(183;0.0238)|Colorectal(144;0.103)|LUSC - Lung squamous cell carcinoma(189;0.135)		GCAGGCAGCCGGGGTGATCAG	0.552			T	MKL1	acute megakaryocytic leukemia																																	ENST00000369784.3				Dom	yes		1	1p13	64783	T	RNA binding motif protein 15			L	MKL1		acute megakaryocytic leukemia		1	Substitution - Missense(1)	p.G902R(1)	prostate(1)	ovary(3)	3						c.(2704-2706)Ggg>Cgg		RNA binding motif protein 15							71	76	74					1																	110884731		2203	4300	6503	SO:0001583	missense	64783				interspecies interaction between organisms	nucleus	nucleotide binding|protein binding|RNA binding	g.chr1:110884731G>C	AF368063	CCDS822.1, CCDS59198.1	1p13	2013-02-12			ENSG00000162775	ENSG00000162775		"RNA binding motif (RRM) containing"	14959	protein-coding gene	gene with protein product	"one twenty-two"	606077				11431691, 11344311	Standard	NM_001201545		Approved	OTT, OTT1	uc001dzl.1	Q96T37	OTTHUMG00000011284	ENST00000369784.3:c.2704G>C	1.37:g.110884731G>C	ENSP00000358799:p.Gly902Arg					RBM15_ENST00000487146.2_Missense_Mutation_p.G902R|RBM15_ENST00000602849.1_Missense_Mutation_p.G902R	p.G902R	NM_022768.4	NP_073605.4	Q96T37	RBM15_HUMAN		BRCA - Breast invasive adenocarcinoma(282;0.000224)|Epithelial(280;0.000476)|Kidney(133;0.000539)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|all cancers(265;0.00144)|Lung(183;0.0238)|Colorectal(144;0.103)|LUSC - Lung squamous cell carcinoma(189;0.135)	1	3604	+		all_cancers(81;2.89e-06)|all_epithelial(167;2.96e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)|Breast(1374;0.0634)	902			SPOC.		A1A693|Q3ZB86|Q4V760|Q5D058|Q5T613|Q86VW9|Q96PE4|Q96SC5|Q96SC6|Q96SC9|Q96SD0|Q96T38|Q9BRA5|Q9H6R8|Q9H9Y0	Missense_Mutation	SNP	ENST00000369784.3	37	c.2704G>C	CCDS822.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.984847	0.74474	.	.	ENSG00000162775	ENST00000369784	D	0.86627	-2.15	5.25	5.25	0.73442	Spen Paralogue and Orthologue SPOC, C-terminal-like (2);Spen paralogue/orthologue C-terminal, metazoa (1);Spen paralogue and orthologue SPOC, C-terminal (1);	0.000000	0.46442	D	0.000295	D	0.93953	0.8064	M	0.87038	2.855	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.94707	0.7888	10	0.87932	D	0	-11.1648	18.818	0.92085	0.0:0.0:1.0:0.0	.	902;902	Q96T37-3;Q96T37	.;RBM15_HUMAN	R	902	ENSP00000358799:G902R	ENSP00000358799:G902R	G	+	1	0	RBM15	110686254	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.790000	0.99075	2.450000	0.82876	0.655000	0.94253	GGG		0.552	RBM15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000031114.2	NM_022768		7	114	0	0	0	0.248553	0	7	114					C	110884731	G	C	110884731	3	2	168	1	0	0	0	0	1	0	0	0	13116	1116	39	5	2706	5	RBM15	1	110884731	Missense_Mutation	SNP	G	TCGA-G9-6367-01A-11D-1786-08		110884731	138365890	1	8053											
LRPPRC	10128	broad.mit.edu	37	chr2	44153050	44153050	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acctgattatttgcaacacaTctgtcacaaaaccactgaag	15	10	5	11	0	2	2	1	2	1	0	2	2	2	2	2	0	3	1	2	0	5	2			TCGA-G9-6367-01A-11D-1786-08	TCGA-G9-6367-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f76a7b4-1889-4550-a4d1-3c3a0d1a526d	993197fc-ba4c-466d-9cc2-e08c74cd8f45	g.chr2:44153050T>C	ENST00000260665.7	-	26	2844	c.2787A>G	c.(2785-2787)agA>agG	p.R929R		NM_133259.3	NP_573566.2	P42704	LPPRC_HUMAN	leucine-rich pentatricopeptide repeat containing	929					mitochondrion transport along microtubule (GO:0047497)|mRNA transport (GO:0051028)|negative regulation of mitochondrial RNA catabolic process (GO:0000961)|regulation of mitochondrial translation (GO:0070129)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	condensed nuclear chromosome (GO:0000794)|cytoskeleton (GO:0005856)|membrane (GO:0016020)|microtubule (GO:0005874)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|ribonucleoprotein complex (GO:0030529)	beta-tubulin binding (GO:0048487)|microtubule binding (GO:0008017)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)	p.R929R(1)		breast(3)|endometrium(3)|kidney(5)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|skin(2)	41		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				TTGCAACACATCTGTCACAAA	0.413																																						ENST00000260665.7																			1	Substitution - coding silent(1)	p.R929R(1)	prostate(1)	breast(3)|endometrium(3)|kidney(5)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|skin(2)	41						c.(2785-2787)agA>agG		leucine-rich pentatricopeptide repeat containing							118	109	112					2																	44153050		2203	4300	6503	SO:0001819	synonymous_variant	10128				mitochondrion transport along microtubule|mRNA transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	condensed nuclear chromosome|cytoskeleton|mitochondrial nucleoid|nuclear inner membrane|nuclear outer membrane|nucleoplasm|perinuclear region of cytoplasm	beta-tubulin binding|microtubule binding|RNA binding	g.chr2:44153050T>C	M92439	CCDS33189.1	2p21	2012-02-24	2012-02-24		ENSG00000138095	ENSG00000138095			15714	protein-coding gene	gene with protein product		607544	"Leigh syndrome, French-Canadian type (cytochrome oxidase deficiency)"	LSFC		8012652, 8619474, 22045337	Standard	NM_133259		Approved	GP130, LRP130	uc002rtr.2	P42704	OTTHUMG00000152782	ENST00000260665.7:c.2787A>G	2.37:g.44153050T>C							p.R929R	NM_133259.3	NP_573566.2	P42704	LPPRC_HUMAN			26	2844	-		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	929					A0PJE3|A8K1V1|Q53PC0|Q53QN7|Q6ZUD8|Q7Z7A6|Q96D84	Silent	SNP	ENST00000260665.7	37	c.2787A>G	CCDS33189.1																																																																																				0.413	LRPPRC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327823.1	NM_133259		6	85	0	0	0	0.217242	0	6	85					C	44153050	T	C	44153050	2	2	168	1	0	0	0	0	0	0	0	1	8965	1432	50	4		4	LRPPRC	2	44153050	Silent	SNP	T	TCGA-G9-6367-01A-11D-1786-08		44153050	199046323	2	8054											
NOP58	51602	broad.mit.edu	37	chr2	203149110	203149110	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccatagtcctgttgttaatGaacttatgagaggaattcgt	11	15	9	6	1	0	2	0	2	0	1	3	4	2	3	2	1	1	2	2	1	5	5			TCGA-G9-6367-01A-11D-1786-08	TCGA-G9-6367-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f76a7b4-1889-4550-a4d1-3c3a0d1a526d	993197fc-ba4c-466d-9cc2-e08c74cd8f45	g.chr2:203149110G>T	ENST00000264279.5	+	5	566	c.340G>T	c.(340-342)Gaa>Taa	p.E114*	NOP58_ENST00000467734.1_3'UTR	NM_015934.3	NP_057018.1	Q9Y2X3	NOP58_HUMAN	NOP58 ribonucleoprotein	114					cell growth (GO:0016049)|rRNA processing (GO:0006364)|snRNP protein import into nucleus (GO:0006608)	box C/D snoRNP complex (GO:0031428)|Cajal body (GO:0015030)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|pre-snoRNP complex (GO:0070761)|small nucleolar ribonucleoprotein complex (GO:0005732)	poly(A) RNA binding (GO:0044822)|snoRNA binding (GO:0030515)	p.E114*(1)		breast(2)|cervix(1)|endometrium(3)|large_intestine(4)|lung(4)|prostate(2)	16						TGTTGTTAATGAACTTATGAG	0.373																																						ENST00000264279.5																			1	Substitution - Nonsense(1)	p.E114*(1)	prostate(1)	breast(2)|cervix(1)|endometrium(3)|large_intestine(4)|lung(4)|prostate(2)	16						c.(340-342)Gaa>Taa		NOP58 ribonucleoprotein							103	97	99					2																	203149110		2203	4300	6503	SO:0001587	stop_gained	51602				cell growth|rRNA processing|snRNP protein import into nucleus	box C/D snoRNP complex|Cajal body|cytoplasm|pre-snoRNP complex	protein binding|snoRNA binding	g.chr2:203149110G>T		CCDS2353.1	2q33.1	2012-12-10	2012-12-10		ENSG00000055044	ENSG00000055044			29926	protein-coding gene	gene with protein product			"NOP58 ribonucleoprotein homolog (yeast)"			10606270, 10925205	Standard	NM_015934		Approved	NOP5, HSPC120	uc002uzb.3	Q9Y2X3	OTTHUMG00000132840	ENST00000264279.5:c.340G>T	2.37:g.203149110G>T	ENSP00000264279:p.Glu114*					NOP58_ENST00000467734.1_3'UTR	p.E114*	NM_015934.3	NP_057018.1	Q9Y2X3	NOP58_HUMAN			5	566	+			114					Q53SA4|Q6PK08|Q9P036|Q9UFN3	Nonsense_Mutation	SNP	ENST00000264279.5	37	c.340G>T	CCDS2353.1	.	.	.	.	.	.	.	.	.	.	G	37	6.574110	0.97676	.	.	ENSG00000055044	ENST00000264279	.	.	.	5.39	5.39	0.77823	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-22.3511	19.5244	0.95197	0.0:0.0:1.0:0.0	.	.	.	.	X	114	.	ENSP00000264279:E114X	E	+	1	0	NOP58	202857355	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.813000	0.99286	2.683000	0.91414	0.655000	0.94253	GAA		0.373	NOP58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256313.2	NM_015934		3	46	1	0	0.115264	0.115264	0.138317	3	46					T	203149110	G	T	203149110	4	4	168	1	0	0	0	0	0	1	0	0	10540	1291	45	5	358	5	NOP58	2	203149110	Nonsense_Mutation	SNP	G	TCGA-G9-6367-01A-11D-1786-08	158996060	203149110	40050263	3	8055											
ADAMTS2	9509	broad.mit.edu	37	chr5	178555106	178555106	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tcagtgagacccgggtgtctCccaccgggatgacctgtgcc	6	8	13	14	2	2	2	1	2	1	1	3	4	2	3	5	2	1	0	5	2	0	0			TCGA-G9-6367-01A-11D-1786-08	TCGA-G9-6367-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f76a7b4-1889-4550-a4d1-3c3a0d1a526d	993197fc-ba4c-466d-9cc2-e08c74cd8f45	g.chr5:178555106C>A	ENST00000251582.7	-	17	2572	c.2471G>T	c.(2470-2472)gGa>gTa	p.G824V		NM_014244.4	NP_055059.2	O95450	ATS2_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 2	824	Spacer.				collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|lung development (GO:0030324)|protein processing (GO:0016485)|skin development (GO:0043588)|spermatogenesis (GO:0007283)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.G824V(2)		breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)		CCGGGTGTCTCCCACCGGGAT	0.577																																						ENST00000251582.7																			2	Substitution - Missense(2)	p.G824V(2)	prostate(2)	breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72						c.(2470-2472)gGa>gTa		ADAM metallopeptidase with thrombospondin type 1 motif, 2							131	106	115					5																	178555106		2203	4300	6503	SO:0001583	missense	9509				collagen catabolic process	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:178555106C>A	AJ003125	CCDS4444.1, CCDS34311.1	5q23-q24	2008-07-18	2005-08-19		ENSG00000087116	ENSG00000087116		"ADAM metallopeptidases with thrombospondin type 1 motif"	218	protein-coding gene	gene with protein product	"procollagen I N-proteinase", "procollagen N-endopeptidase"	604539	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 2"			10094461, 15373769	Standard	NM_014244		Approved	ADAMTS-3, hPCPNI, PCINP, ADAM-TS2, NPI	uc003mjw.3	O95450	OTTHUMG00000130915	ENST00000251582.7:c.2471G>T	5.37:g.178555106C>A	ENSP00000251582:p.Gly824Val						p.G824V	NM_014244.4	NP_055059.2	O95450	ATS2_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)	17	2572	-	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	824			Spacer.			Missense_Mutation	SNP	ENST00000251582.7	37	c.2471G>T	CCDS4444.1	.	.	.	.	.	.	.	.	.	.	C	12.37	1.916691	0.33815	.	.	ENSG00000087116	ENST00000251582	T	0.52754	0.65	4.55	4.55	0.56014	ADAM-TS Spacer 1 (1);	0.000000	0.56097	D	0.000030	T	0.68943	0.3056	M	0.76002	2.32	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.73987	-0.3809	10	0.72032	D	0.01	.	16.6512	0.85203	0.0:1.0:0.0:0.0	.	824	O95450	ATS2_HUMAN	V	824	ENSP00000251582:G824V	ENSP00000251582:G824V	G	-	2	0	ADAMTS2	178487712	0.984000	0.35163	0.280000	0.24747	0.021000	0.10359	2.581000	0.46077	2.232000	0.73038	0.462000	0.41574	GGA		0.577	ADAMTS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253507.1	NM_014244		4	59	1	0	0.217242	0.217242	0.244397	4	59					A	178555106	C	A	178555106	3	1	168	1	0	0	0	0	1	0	0	0	265	855	30	5	1188	5	ADAMTS2	5	178555106	Missense_Mutation	SNP	C	TCGA-G9-6367-01A-11D-1786-08		178555106	2360154	4	8056											
COL11A1	1301	broad.mit.edu	37	chr1	103404601	103404601	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggaaactcacattttctcccTtgtcacccttgctgcctttt	6	16	5	14	0	3	0	2	0	1	0	4	1	3	1	3	1	3	1	3	1	1	6			TCGA-G9-6369-01A-21D-1961-08	TCGA-G9-6369-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	954243c2-9440-4e7f-950d-ab48dfe1b570	46642782-ebe5-4fd1-8991-d0ee682f5ab5	g.chr1:103404601T>G	ENST00000370096.3	-	44	3740	c.3428A>C	c.(3427-3429)aAg>aCg	p.K1143T	COL11A1_ENST00000358392.2_Missense_Mutation_p.K1155T|COL11A1_ENST00000353414.4_Missense_Mutation_p.K1104T|COL11A1_ENST00000512756.1_Missense_Mutation_p.K1027T	NM_001854.3	NP_001845.3	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	1143	Triple-helical region.				cartilage condensation (GO:0001502)|chondrocyte development (GO:0002063)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|embryonic skeletal system morphogenesis (GO:0048704)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|proteoglycan metabolic process (GO:0006029)|sensory perception of sound (GO:0007605)|tendon development (GO:0035989)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visual perception (GO:0007601)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		ATTTTCTCCCTTGTCACCCTT	0.338																																						ENST00000358392.2																			0				NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258						c.(3463-3465)aAg>aCg		collagen, type XI, alpha 1							162	161	161					1																	103404601		2203	4300	6503	SO:0001583	missense	1301				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging	g.chr1:103404601T>G	J04177	CCDS778.1, CCDS780.1, CCDS780.2, CCDS53348.1	1p21	2013-01-16			ENSG00000060718	ENSG00000060718		"Collagens"	2186	protein-coding gene	gene with protein product	"collagen XI, alpha-1 polypeptide"	120280		COLL6		3182841	Standard	NM_080630		Approved	STL2, CO11A1	uc001dul.3	P12107	OTTHUMG00000010872	ENST00000370096.3:c.3428A>C	1.37:g.103404601T>G	ENSP00000359114:p.Lys1143Thr					COL11A1_ENST00000512756.1_Missense_Mutation_p.K1027T|COL11A1_ENST00000353414.4_Missense_Mutation_p.K1104T|COL11A1_ENST00000370096.3_Missense_Mutation_p.K1143T	p.K1155T	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)	44	3781	-		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)	1143			Triple-helical region.		B1ASK7|D3DT73|E9PCU0|Q14034|Q149N0|Q9UIT4|Q9UIT5|Q9UIT6	Missense_Mutation	SNP	ENST00000370096.3	37	c.3464A>C	CCDS778.1	.	.	.	.	.	.	.	.	.	.	T	18.16	3.562502	0.65538	.	.	ENSG00000060718	ENST00000370096;ENST00000358392;ENST00000353414;ENST00000370090;ENST00000512756	D;D;D;D	0.93859	-3.23;-3.3;-3.23;-3.23	5.28	5.28	0.74379	.	0.000000	0.85682	D	0.000000	D	0.91808	0.7408	N	0.13140	0.3	0.80722	D	1	D;B;D;D;D	0.89917	0.998;0.399;1.0;0.999;0.999	D;P;D;D;D	0.91635	0.987;0.569;0.996;0.991;0.999	D	0.94493	0.7703	10	0.87932	D	0	.	15.5004	0.75695	0.0:0.0:0.0:1.0	.	1027;1104;1155;1143;363	E9PCU0;P12107-3;P12107-2;P12107;F5H5Z5	.;.;.;COBA1_HUMAN;.	T	1143;1155;1104;363;1027	ENSP00000359114:K1143T;ENSP00000351163:K1155T;ENSP00000302551:K1104T;ENSP00000426533:K1027T	ENSP00000302551:K1104T	K	-	2	0	COL11A1	103177189	1.000000	0.71417	1.000000	0.80357	0.915000	0.54546	7.970000	0.88000	2.133000	0.65898	0.482000	0.46254	AAG		0.338	COL11A1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000029997.1	NM_080630		4	63	0	0	0	0.014758	0	4	63					G	103404601	T	G	103404601	3	3	169	1	0	0	0	0	1	0	0	0	3667	1609	56	5	2088	5	COL11A1	1	103404601	Missense_Mutation	SNP	T	TCGA-G9-6369-01A-21D-1961-08		103404601	145846020	1	8057											
RAG1AP1	55974	broad.mit.edu	37	chr1	155110477	155110477	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	taaggtgattcaaactaaatCaacccaatgtctctcctacc	14	11	4	12	0	3	1	2	1	1	0	5	1	4	1	3	1	3	0	3	1	7	4			TCGA-G9-6369-01A-21D-1961-08	TCGA-G9-6369-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	954243c2-9440-4e7f-950d-ab48dfe1b570	46642782-ebe5-4fd1-8991-d0ee682f5ab5	g.chr1:155110477C>T	ENST00000368404.4	+	5	529	c.467C>T	c.(466-468)tCa>tTa	p.S156L	SLC50A1_ENST00000484157.1_Missense_Mutation_p.S91L|SLC50A1_ENST00000368401.5_Missense_Mutation_p.S101L|SLC50A1_ENST00000368405.3_3'UTR|SLC50A1_ENST00000303343.8_Missense_Mutation_p.S102L	NM_018845.3	NP_061333.2	Q9BRV3	SWET1_HUMAN	solute carrier family 50 (sugar efflux transporter), member 1	156	Mediates interaction with TRPV2. {ECO:0000250}.|MtN3/slv 2.				carbohydrate transport (GO:0008643)|DNA recombination (GO:0006310)|glucoside transport (GO:0042946)|positive regulation of gene expression, epigenetic (GO:0045815)	endomembrane system (GO:0012505)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	glucoside transmembrane transporter activity (GO:0042947)			endometrium(1)|lung(1)|ovary(1)|skin(1)	4						CAAACTAAATCAACCCAATGT	0.463																																						ENST00000368404.4																			0				endometrium(1)|lung(1)|ovary(1)|skin(1)	4						c.(466-468)tCa>tTa		solute carrier family 50 (sugar efflux transporter), member 1							217	188	198					1																	155110477		2203	4300	6503	SO:0001583	missense	55974				positive regulation of gene expression, epigenetic	Golgi membrane|integral to membrane|plasma membrane	glucoside transmembrane transporter activity	g.chr1:155110477C>T	AF126023, AF126024	CCDS1093.1, CCDS44238.1, CCDS44239.1, CCDS72929.1, CCDS72930.1	1q22	2013-07-17	2013-07-17	2010-11-30	ENSG00000169241	ENSG00000169241		"Solute carriers"	30657	protein-coding gene	gene with protein product	"stromal cell protein"	613683	"recombination activating gene 1 activating protein 1"	RAG1AP1		21107422	Standard	NM_018845		Approved	SCP, RP11-540D14.5, slv, RZPDo834D038D, HsSWEET1, SWEET1	uc001fhj.4	Q9BRV3	OTTHUMG00000035333	ENST00000368404.4:c.467C>T	1.37:g.155110477C>T	ENSP00000357389:p.Ser156Leu					SLC50A1_ENST00000368405.3_3'UTR|SLC50A1_ENST00000303343.8_Missense_Mutation_p.S102L|SLC50A1_ENST00000484157.1_Missense_Mutation_p.S91L|SLC50A1_ENST00000368401.5_Missense_Mutation_p.S101L	p.S156L	NM_018845.3	NP_061333.2	Q9BRV3	SWET1_HUMAN			5	529	+			156			Mediates interaction with TRPV2 (By similarity).|MtN3/slv 2.		Q5SR64|Q6IAK6|Q96DC5|Q9UHQ2|Q9UHQ3	Missense_Mutation	SNP	ENST00000368404.4	37	c.467C>T	CCDS1093.1	.	.	.	.	.	.	.	.	.	.	C	14.92	2.680692	0.47886	.	.	ENSG00000169241	ENST00000484157;ENST00000303343;ENST00000368404;ENST00000368401	.	.	.	4.97	4.97	0.65823	.	0.258920	0.38111	N	0.001806	D	0.84520	0.5490	H	0.96080	3.765	0.42650	D	0.993449	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.79108	0.988;0.986;0.992	D	0.85501	0.1191	9	0.31617	T	0.26	-5.0281	16.1085	0.81241	0.0:1.0:0.0:0.0	.	102;101;156	Q9BRV3-3;Q9BRV3-2;Q9BRV3	.;.;SWET1_HUMAN	L	91;102;156;101	.	ENSP00000306146:S102L	S	+	2	0	SLC50A1	153377101	0.996000	0.38824	0.602000	0.28890	0.034000	0.12701	3.611000	0.54132	2.749000	0.94314	0.655000	0.94253	TCA		0.463	SLC50A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085505.1	NM_018845		56	62	0	0	0	0.048971	0	56	62					T	155110477	C	T	155110477	3	4	169	1	0	0	0	0	1	0	0	0	13004	838	29	3	485	3	RAG1AP1	1	155110477	Missense_Mutation	SNP	C	TCGA-G9-6369-01A-21D-1961-08	51705876	155110477	94140144	2	8058											
OR10J1	26476	broad.mit.edu	37	chr1	159409943	159409943	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctcacagcaatgggatatgAccgctatgtggccatctgca	10	9	11	11	1	2	1	1	1	1	0	2	2	2	2	2	2	2	4	2	2	3	2			TCGA-G9-6369-01A-21D-1961-08	TCGA-G9-6369-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	954243c2-9440-4e7f-950d-ab48dfe1b570	46642782-ebe5-4fd1-8991-d0ee682f5ab5	g.chr1:159409943A>G	ENST00000423932.3	+	1	432	c.395A>G	c.(394-396)gAc>gGc	p.D132G	RP11-550P17.5_ENST00000431862.1_RNA	NM_012351.2	NP_036483.2	P30954	O10J1_HUMAN	olfactory receptor, family 10, subfamily J, member 1	132					G-protein coupled receptor signaling pathway (GO:0007186)|sensory perception of chemical stimulus (GO:0007606)|single fertilization (GO:0007338)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|stomach(1)	25	all_hematologic(112;0.0429)					ATGGGATATGACCGCTATGTG	0.498																																						ENST00000423932.3																			0				endometrium(2)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|stomach(1)	25						c.(394-396)gAc>gGc		olfactory receptor, family 10, subfamily J, member 1							117	105	109					1																	159409943		2203	4300	6503	SO:0001583	missense	26476				sensory perception of smell|single fertilization	integral to plasma membrane	olfactory receptor activity	g.chr1:159409943A>G	X64995	CCDS1185.1	1q23.2	2012-08-09			ENSG00000196184	ENSG00000196184		"GPCR / Class A : Olfactory receptors"	8175	protein-coding gene	gene with protein product						1370859	Standard	NM_012351		Approved	HGMP07J, HSHGMP07J	uc010piv.2	P30954	OTTHUMG00000022737	ENST00000423932.3:c.395A>G	1.37:g.159409943A>G	ENSP00000399078:p.Asp132Gly					RP11-550P17.5_ENST00000431862.1_RNA	p.D132G	NM_012351.2	NP_036483.2	P30954	O10J1_HUMAN			1	432	+	all_hematologic(112;0.0429)		132					Q2M1M8|Q5VSV1|Q6IET5|Q96R56	Missense_Mutation	SNP	ENST00000423932.3	37	c.395A>G	CCDS1185.1	.	.	.	.	.	.	.	.	.	.	A	17.25	3.341660	0.61073	.	.	ENSG00000196184	ENST00000423932	T	0.18174	2.23	4.49	4.49	0.54785	GPCR, rhodopsin-like superfamily (1);	0.000000	0.43579	D	0.000550	T	0.43478	0.1249	H	0.95816	3.725	0.41479	D	0.988155	D	0.64830	0.994	D	0.68765	0.96	T	0.59867	-0.7373	10	0.87932	D	0	.	12.0586	0.53550	1.0:0.0:0.0:0.0	.	132	P30954	O10J1_HUMAN	G	132	ENSP00000399078:D132G	ENSP00000399078:D132G	D	+	2	0	OR10J1	157676567	1.000000	0.71417	0.299000	0.25016	0.557000	0.35523	8.919000	0.92770	1.989000	0.58080	0.533000	0.62120	GAC		0.498	OR10J1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059020.1	NM_012351		3	130	0	0	0	0.004672	0	3	130					G	159409943	A	G	159409943	3	3	169	1	0	0	0	0	1	0	0	0	10910	275	10	4	397	4	OR10J1	1	159409943	Missense_Mutation	SNP	A	TCGA-G9-6369-01A-21D-1961-08	4299466	159409943	89840678	3	8059											
TGFA	7039	broad.mit.edu	37	chr2	70680366	70680366	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttacctgtttctgagtggcaGcaagcggttcttcccttcag	6	14	10	11	1	3	1	1	1	2	0	4	1	4	1	2	2	3	4	2	2	2	5	rs199594512		TCGA-G9-6369-01A-21D-1961-08	TCGA-G9-6369-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	954243c2-9440-4e7f-950d-ab48dfe1b570	46642782-ebe5-4fd1-8991-d0ee682f5ab5	g.chr2:70680366G>A	ENST00000295400.6	-	5	706	c.459C>T	c.(457-459)tgC>tgT	p.C153C	TGFA_ENST00000418333.2_Silent_p.C152C|AC017084.1_ENST00000401177.2_RNA|TGFA_ENST00000444975.1_Silent_p.C159C|TGFA_ENST00000450929.1_Silent_p.C158C|TGFA_ENST00000445399.1_Silent_p.C152C	NM_001099691.2|NM_003236.3	NP_001093161.1|NP_003227.1	P01135	TGFA_HUMAN	transforming growth factor, alpha	153					activation of MAPK activity (GO:0000187)|angiogenesis (GO:0001525)|cell proliferation (GO:0008283)|epidermal growth factor receptor signaling pathway (GO:0007173)|mammary gland alveolus development (GO:0060749)|MAPK cascade (GO:0000165)|negative regulation of apoptotic process (GO:0043066)|positive regulation of cell division (GO:0051781)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of mitosis (GO:0045840)|response to drug (GO:0042493)|wound healing (GO:0042060)	basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	epidermal growth factor receptor binding (GO:0005154)|growth factor activity (GO:0008083)|MAP kinase kinase activity (GO:0004708)			haematopoietic_and_lymphoid_tissue(1)|lung(2)|prostate(1)	4						CTGAGTGGCAGCAAGCGGTTC	0.577																																						ENST00000295400.6																			0				haematopoietic_and_lymphoid_tissue(1)|lung(2)|prostate(1)	4						c.(457-459)tgC>tgT		transforming growth factor, alpha							85	93	90					2																	70680366		2203	4300	6503	SO:0001819	synonymous_variant	7039				activation of MAPK activity|cell proliferation|positive regulation of cell division|positive regulation of epidermal growth factor receptor activity|positive regulation of epithelial cell proliferation|positive regulation of mitosis	cell surface|extracellular space|integral to membrane|plasma membrane	epidermal growth factor receptor binding|growth factor activity|MAP kinase kinase activity|signal transducer activity	g.chr2:70680366G>A		CCDS1905.1, CCDS46316.1	2p13	2012-10-02			ENSG00000163235	ENSG00000163235			11765	protein-coding gene	gene with protein product		190170				3459638, 10552925	Standard	NM_003236		Approved		uc002sgs.4	P01135	OTTHUMG00000129669	ENST00000295400.6:c.459C>T	2.37:g.70680366G>A						TGFA_ENST00000445399.1_Silent_p.C152C|TGFA_ENST00000444975.1_Silent_p.C159C|TGFA_ENST00000450929.1_Silent_p.C158C|TGFA_ENST00000418333.2_Silent_p.C152C	p.C153C	NM_001099691.2|NM_003236.3	NP_001093161.1|NP_003227.1	P01135	TGFA_HUMAN			5	706	-			153					A8K286|Q15577|Q53SK7|Q9BS56|Q9UEI3|Q9UKM1|Q9UKM2|Q9UKM3	Silent	SNP	ENST00000295400.6	37	c.459C>T	CCDS1905.1	.	.	.	.	.	.	.	.	.	.	G	9.701	1.154553	0.21371	.	.	ENSG00000163235	ENST00000419940	.	.	.	5.87	4.98	0.66077	.	.	.	.	.	T	0.65333	0.2681	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.61357	-0.7079	4	.	.	.	.	13.5801	0.61898	0.0791:0.0:0.9209:0.0	.	.	.	.	V	121	.	.	A	-	2	0	TGFA	70533874	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	2.104000	0.41815	2.941000	0.99782	0.655000	0.94253	GCT		0.577	TGFA-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000251870.2			4	171	0	0	0	0.014758	0	4	171					A	70680366	G	A	70680366	2	1	169	1	0	0	0	0	0	0	0	1	15812	963	34	3		3	TGFA	2	70680366	Silent	SNP	G	TCGA-G9-6369-01A-21D-1961-08		70680366	172519007	4	8060											
ITGA6	3655	broad.mit.edu	37	chr2	173330368	173330368	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caccgcccgggggccatgcaCgcggatcgagtttgataacg	8	6	14	13	6	0	1	0	1	0	0	1	3	0	2	3	3	2	2	3	3	1	2	rs535667916		TCGA-G9-6369-01A-21D-1961-08	TCGA-G9-6369-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	954243c2-9440-4e7f-950d-ab48dfe1b570	46642782-ebe5-4fd1-8991-d0ee682f5ab5	g.chr2:173330368C>A	ENST00000264106.6	+	2	487	c.284C>A	c.(283-285)aCg>aAg	p.T95K	ITGA6_ENST00000409532.1_5'UTR|ITGA6_ENST00000375221.2_Missense_Mutation_p.T95K|ITGA6_ENST00000409080.1_Missense_Mutation_p.T95K|ITGA6_ENST00000343713.4_Missense_Mutation_p.T95K|AC078883.3_ENST00000417539.1_RNA|AC078883.3_ENST00000458314.1_RNA|ITGA6_ENST00000264107.7_Missense_Mutation_p.T95K			P23229	ITA6_HUMAN	integrin, alpha 6	95					amelogenesis (GO:0097186)|blood coagulation (GO:0007596)|brown fat cell differentiation (GO:0050873)|cell adhesion mediated by integrin (GO:0033627)|cell junction assembly (GO:0034329)|cell-matrix adhesion (GO:0007160)|cell-substrate adhesion (GO:0031589)|cell-substrate junction assembly (GO:0007044)|cellular response to extracellular stimulus (GO:0031668)|cellular response to organic cyclic compound (GO:0071407)|digestive tract development (GO:0048565)|ectodermal cell differentiation (GO:0010668)|extracellular matrix organization (GO:0030198)|filopodium assembly (GO:0046847)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|nail development (GO:0035878)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of phosphorylation (GO:0042327)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|renal system development (GO:0072001)|single organismal cell-cell adhesion (GO:0016337)|skin development (GO:0043588)	basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell surface (GO:0009986)|cell-cell adherens junction (GO:0005913)|external side of plasma membrane (GO:0009897)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integrin alpha6-beta4 complex (GO:0034676)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	44			OV - Ovarian serous cystadenocarcinoma(117;0.0979)			GGGCCATGCACGCGGATCGAG	0.622											OREG0015066	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000375221.2																			0				NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	44						c.(283-285)aCg>aAg		integrin, alpha 6							90	87	88					2																	173330368		2203	4300	6503	SO:0001583	missense	0				blood coagulation|cell adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|positive regulation of apoptosis|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter	integrin complex	protein binding|receptor activity	g.chr2:173330368C>A		CCDS2249.1, CCDS46451.1	2q31.1	2010-09-20			ENSG00000091409	ENSG00000091409		"CD molecules", "Integrins"	6142	protein-coding gene	gene with protein product		147556					Standard	NM_001079818		Approved	CD49f	uc002uhp.1	P23229	OTTHUMG00000132277	ENST00000264106.6:c.284C>A	2.37:g.173330368C>A	ENSP00000264106:p.Thr95Lys		OREG0015066	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1907	ITGA6_ENST00000409080.1_Missense_Mutation_p.T95K|ITGA6_ENST00000264107.7_Missense_Mutation_p.T95K|ITGA6_ENST00000409532.1_5'UTR|AC078883.3_ENST00000417539.1_RNA|AC078883.3_ENST00000458314.1_RNA|ITGA6_ENST00000343713.4_Missense_Mutation_p.T95K|ITGA6_ENST00000264106.6_Missense_Mutation_p.T95K	p.T95K			P23229	ITA6_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0979)		2	487	+			95					B2RMU9|B4DG69|B4DKB8|C4AM96|G5E9H1|Q08443|Q0MRC7|Q14646|Q16508|Q53RX7|Q59HB7|Q86VL6|Q9UCT1|Q9UN03	Missense_Mutation	SNP	ENST00000264106.6	37	c.284C>A		.	.	.	.	.	.	.	.	.	.	C	2.455	-0.325382	0.05350	.	.	ENSG00000091409	ENST00000264107;ENST00000264106;ENST00000375221;ENST00000343713;ENST00000409080;ENST00000442250;ENST00000458358	D;D;D;D;D;D;D	0.84370	-1.84;-1.84;-1.84;-1.84;-1.84;-1.84;-1.84	5.9	3.82	0.43975	.	0.619985	0.18092	N	0.151941	T	0.68247	0.2980	N	0.16368	0.405	0.21499	N	0.999662	B;B	0.06786	0.001;0.001	B;B	0.13407	0.009;0.004	T	0.50833	-0.8781	10	0.08599	T	0.76	.	6.6379	0.22893	0.2246:0.6048:0.1002:0.0704	.	95;95	G5E9H1;P23229-2	.;.	K	95	ENSP00000264107:T95K;ENSP00000264106:T95K;ENSP00000364369:T95K;ENSP00000341078:T95K;ENSP00000386896:T95K;ENSP00000406694:T95K;ENSP00000394169:T95K	ENSP00000264106:T95K	T	+	2	0	ITGA6	173038614	0.802000	0.28943	0.925000	0.36789	0.217000	0.24651	1.544000	0.36158	2.793000	0.96121	0.563000	0.77884	ACG		0.622	ITGA6-201	KNOWN	basic	protein_coding	protein_coding				39	17	1	0	6.97489e-18	0.074837	1.00438e-17	39	17					A	173330368	C	A	173330368	3	1	169	1	0	0	0	0	1	0	0	0	7880	536	19	5	290	5	ITGA6	2	173330368	Missense_Mutation	SNP	C	TCGA-G9-6369-01A-21D-1961-08	102650002	173330368	69869005	5	8061											
COL6A3	1293	broad.mit.edu	37	chr2	238243486	238243486	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctctcccagtggagtttggcGctgttctctgttatctcaaa	6	15	9	11	1	3	0	1	0	3	0	6	1	3	1	1	2	0	4	1	2	2	3	rs199519571	byFrequency	TCGA-G9-6369-01A-21D-1961-08	TCGA-G9-6369-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	954243c2-9440-4e7f-950d-ab48dfe1b570	46642782-ebe5-4fd1-8991-d0ee682f5ab5	g.chr2:238243486G>A	ENST00000295550.4	-	41	9464	c.9012C>T	c.(9010-9012)agC>agT	p.S3004S	COL6A3_ENST00000472056.1_Silent_p.S2397S|COL6A3_ENST00000347401.3_Silent_p.S2803S|COL6A3_ENST00000409809.1_Silent_p.S2798S|COL6A3_ENST00000353578.4_Silent_p.S2798S|COL6A3_ENST00000346358.4_Silent_p.S2804S	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	3004	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.|Nonhelical region.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|response to glucose (GO:0009749)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		GGAGTTTGGCGCTGTTCTCTG	0.483													G|||	6	0.00119808	0	0	5008	,	,		18060	0		0.001	False		,,,				2504	0.0051					ENST00000295550.4																			0				breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217						c.(9010-9012)agC>agT		collagen, type VI, alpha 3							85	90	88					2																	238243486		2203	4300	6503	SO:0001819	synonymous_variant	1293				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity	g.chr2:238243486G>A	X52022	CCDS33409.1, CCDS33410.1, CCDS33411.1, CCDS33412.1, CCDS33410.2, CCDS33411.2, CCDS54439.1	2q37	2014-09-17			ENSG00000163359	ENSG00000163359		"Collagens"	2213	protein-coding gene	gene with protein product		120250				1339440, 11992252	Standard	NM_004369		Approved		uc002vwl.2	P12111	OTTHUMG00000150020	ENST00000295550.4:c.9012C>T	2.37:g.238243486G>A						COL6A3_ENST00000472056.1_Silent_p.S2397S|COL6A3_ENST00000353578.4_Silent_p.S2798S|COL6A3_ENST00000346358.4_Silent_p.S2804S|COL6A3_ENST00000347401.3_Silent_p.S2803S|COL6A3_ENST00000409809.1_Silent_p.S2798S	p.S3004S	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)	41	9464	-		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)	3004			Fibronectin type-III.|Nonhelical region.		A8MT30|B4E3U5|B7ZMJ7|E9PFQ6|E9PGQ9|Q16501|Q53QF4|Q53QF6	Silent	SNP	ENST00000295550.4	37	c.9012C>T	CCDS33412.1																																																																																				0.483	COL6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315790.2	NM_004369		13	90	0	0	0	0.020292	0	13	90					A	238243486	G	A	238243486	2	1	169	1	0	0	0	0	0	0	0	1	3701	1078	38	1		1	COL6A3	2	238243486	Silent	SNP	G	TCGA-G9-6369-01A-21D-1961-08	64913118	238243486	4955887	6	8062											
ROBO1	6091	broad.mit.edu	37	chr3	78667056	78667056	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggtttgcatcttggctacCtccatgtcggcttcgtcttc	3	16	9	13	2	2	0	0	0	2	0	6	0	3	0	2	3	2	4	2	3	1	5			TCGA-G9-6369-01A-21D-1961-08	TCGA-G9-6369-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	954243c2-9440-4e7f-950d-ab48dfe1b570	46642782-ebe5-4fd1-8991-d0ee682f5ab5	g.chr3:78667056C>T	ENST00000464233.1	-	27	4124	c.4011G>A	c.(4009-4011)gaG>gaA	p.E1337E	ROBO1_ENST00000467549.1_Silent_p.E1237E|ROBO1_ENST00000495273.1_Silent_p.E1292E|ROBO1_ENST00000436010.2_Silent_p.E1298E	NM_002941.3	NP_002932.1	Q9Y6N7	ROBO1_HUMAN	roundabout, axon guidance receptor, homolog 1 (Drosophila)	1337					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|cell adhesion (GO:0007155)|cell migration involved in sprouting angiogenesis (GO:0002042)|chemorepulsion involved in postnatal olfactory bulb interneuron migration (GO:0021836)|homophilic cell adhesion (GO:0007156)|mammary duct terminal end bud growth (GO:0060763)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|negative regulation of negative chemotaxis (GO:0050925)|nervous system development (GO:0007399)|positive regulation of axonogenesis (GO:0050772)|Roundabout signaling pathway (GO:0035385)	axolemma (GO:0030673)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	axon guidance receptor activity (GO:0008046)|identical protein binding (GO:0042802)|LRR domain binding (GO:0030275)			breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1)	44		Lung SC(41;0.0257)|Lung NSC(201;0.0439)		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)		TCTTGGCTACCTCCATGTCGG	0.547																																						ENST00000436010.2																			0				breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1)	44						c.(3892-3894)gaG>gaA		roundabout, axon guidance receptor, homolog 1 (Drosophila)							86	94	91					3																	78667056		2027	4180	6207	SO:0001819	synonymous_variant	6091				activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis|Roundabout signaling pathway	cell surface|cytoplasm|integral to plasma membrane	axon guidance receptor activity|identical protein binding|LRR domain binding	g.chr3:78667056C>T	AF040990	CCDS46872.1, CCDS46872.2, CCDS54610.1, CCDS54611.1	3p12.3	2013-02-11	2001-11-28		ENSG00000169855	ENSG00000169855		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	10249	protein-coding gene	gene with protein product		602430	"roundabout (axon guidance receptor, Drosophila) homolog 1"			9458045, 9608531	Standard	NM_002941		Approved	DUTT1, FLJ21882, SAX3	uc003dqe.2	Q9Y6N7	OTTHUMG00000158843	ENST00000464233.1:c.4011G>A	3.37:g.78667056C>T						ROBO1_ENST00000464233.1_Silent_p.E1337E|ROBO1_ENST00000495273.1_Silent_p.E1292E|ROBO1_ENST00000467549.1_Silent_p.E1237E	p.E1298E			Q9Y6N7	ROBO1_HUMAN		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)	25	4891	-		Lung SC(41;0.0257)|Lung NSC(201;0.0439)	1337					B2RXI1|D3DU36|E9PD49|Q1RMC7|Q7Z300|Q9BUS7	Silent	SNP	ENST00000464233.1	37	c.3894G>A	CCDS54611.1																																																																																				0.547	ROBO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352610.1	NM_002941		41	45	0	0	0	0.042209	0	41	45					T	78667056	C	T	78667056	2	4	169	1	0	0	0	0	0	0	0	1	13513	680	24	3		3	ROBO1	3	78667056	Silent	SNP	C	TCGA-G9-6369-01A-21D-1961-08		78667056	119355374	7	8063											
SENP7	57337	broad.mit.edu	37	chr3	101047392	101047392	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tagtataagaatacatggccTatgaaaagcaaaggacaaaa	21	7	8	5	0	0	2	0	1	0	1	0	3	0	3	1	2	2	2	1	2	11	5			TCGA-G9-6369-01A-21D-1961-08	TCGA-G9-6369-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	954243c2-9440-4e7f-950d-ab48dfe1b570	46642782-ebe5-4fd1-8991-d0ee682f5ab5	g.chr3:101047392T>C	ENST00000394095.2	-	22	2849		c.e22-2		SENP7_ENST00000358203.3_Splice_Site|SENP7_ENST00000348610.3_Splice_Site|SENP7_ENST00000314261.7_Splice_Site|SENP7_ENST00000394094.2_Splice_Site|SENP7_ENST00000394085.3_Splice_Site|SENP7_ENST00000394091.1_Splice_Site	NM_001282802.1|NM_020654.3	NP_001269731.1|NP_065705.3	Q9BQF6	SENP7_HUMAN	SUMO1/sentrin specific peptidase 7							intracellular (GO:0005622)|nucleus (GO:0005634)	cysteine-type peptidase activity (GO:0008234)			breast(2)|endometrium(1)|kidney(1)|large_intestine(16)|lung(15)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						ATACATGGCCTATGAAAAGCA	0.318																																						ENST00000394095.2																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(16)|lung(15)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						c.e22-2		SUMO1/sentrin specific peptidase 7							99	111	107					3																	101047392		2203	4290	6493	SO:0001630	splice_region_variant	57337				proteolysis	nucleus	cysteine-type peptidase activity	g.chr3:101047392T>C		CCDS2941.2, CCDS43121.1, CCDS63704.1, CCDS63705.1, CCDS63706.1	3q12	2008-02-05	2005-08-17		ENSG00000138468	ENSG00000138468			30402	protein-coding gene	gene with protein product		612846	"SUMO1/sentrin specific protease 7"			11214970, 11230166	Standard	NM_001282802		Approved		uc003dut.3	Q9BQF6	OTTHUMG00000149927	ENST00000394095.2:c.2796-2A>G	3.37:g.101047392T>C						SENP7_ENST00000394085.3_Splice_Site|SENP7_ENST00000394091.1_Splice_Site|SENP7_ENST00000348610.3_Splice_Site|SENP7_ENST00000358203.3_Splice_Site|SENP7_ENST00000314261.7_Splice_Site|SENP7_ENST00000394094.2_Splice_Site		NM_020654.3	NP_065705.3	Q9BQF6	SENP7_HUMAN			22	2849	-								A1L3A5|A8MW39|B7WNW8|Q7Z3F4|Q96PS5|Q9C0F6|Q9HBT5	Splice_Site	SNP	ENST00000394095.2	37		CCDS2941.2	.	.	.	.	.	.	.	.	.	.	T	18.53	3.643546	0.67244	.	.	ENSG00000138468	ENST00000394095;ENST00000394094;ENST00000314261;ENST00000394091;ENST00000358203;ENST00000394085;ENST00000348610	.	.	.	5.42	5.42	0.78866	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.4665	0.75406	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	SENP7	102530082	1.000000	0.71417	0.972000	0.41901	0.835000	0.47333	6.599000	0.74127	2.056000	0.61249	0.482000	0.46254	.		0.318	SENP7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313957.2	NM_020654	Intron	3	173	0	0	0	0.004672	0	3	173					C	101047392	T	C	101047392	5	2	169	1	0	0	0	0	0	0	1	0	14051	1536	53	4	370	4	SENP7	3	101047392	Splice_Site	SNP	T	TCGA-G9-6369-01A-21D-1961-08	22380336	101047392	96975038	8	8064											
ATP6V1A	523	broad.mit.edu	37	chr3	113507676	113507676	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aatcatctatgtaggatgtgGtgaaagaggaaatgagatgt	15	11	13	2	0	2	3	1	2	1	2	2	6	2	5	0	3	0	1	0	3	5	2			TCGA-G9-6369-01A-21D-1961-08	TCGA-G9-6369-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	954243c2-9440-4e7f-950d-ab48dfe1b570	46642782-ebe5-4fd1-8991-d0ee682f5ab5	g.chr3:113507676G>T	ENST00000273398.3	+	7	941	c.833G>T	c.(832-834)gGt>gTt	p.G278V	ATP6V1A_ENST00000538620.1_Missense_Mutation_p.G245V	NM_001690.3	NP_001681.2	P38606	VATA_HUMAN	ATPase, H+ transporting, lysosomal 70kDa, V1 subunit A	278					ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|microvillus (GO:0005902)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|proton-transporting two-sector ATPase complex (GO:0016469)|proton-transporting V-type ATPase, V1 domain (GO:0033180)	ATP binding (GO:0005524)|proton-transporting ATPase activity, rotational mechanism (GO:0046961)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34					Alendronate(DB00630)|Etidronic acid(DB01077)|Tiludronate(DB01133)	GTAGGATGTGGTGAAAGAGGA	0.418																																						ENST00000273398.3																			0				breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						c.(832-834)gGt>gTt		ATPase, H+ transporting, lysosomal 70kDa, V1 subunit A							166	168	167					3																	113507676		2203	4300	6503	SO:0001583	missense	523				ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|integral to plasma membrane|proton-transporting V-type ATPase, V1 domain	ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism	g.chr3:113507676G>T	L09235	CCDS2976.1	3q13.31	2010-04-21	2002-08-29	2003-04-25	ENSG00000114573	ENSG00000114573	3.6.3.14	"ATPases / V-type"	851	protein-coding gene	gene with protein product		607027	"ATPase, H+ transporting, lysosomal (vacuolar proton pump), alpha polypeptide, 70kD, isoform 1"	VPP2, ATP6A1, ATP6V1A1		8463241	Standard	NM_001690		Approved	Vma1, VA68	uc003eao.3	P38606	OTTHUMG00000159295	ENST00000273398.3:c.833G>T	3.37:g.113507676G>T	ENSP00000273398:p.Gly278Val					ATP6V1A_ENST00000538620.1_Missense_Mutation_p.G245V	p.G278V	NM_001690.3	NP_001681.2	P38606	VATA_HUMAN			7	941	+			278					B2RBR8|B7Z1R5|D3DN75|Q53YD9|Q96DY6|Q9UHY3	Missense_Mutation	SNP	ENST00000273398.3	37	c.833G>T	CCDS2976.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.315357	0.81358	.	.	ENSG00000114573	ENST00000273398;ENST00000538620	D;D	0.93189	-3.18;-3.18	5.61	4.74	0.60224	ATPase, F1/V1/A1 complex, alpha/beta subunit, nucleotide-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.98207	0.9407	H	0.99238	4.48	0.80722	D	1	D	0.76494	0.999	D	0.77004	0.989	D	0.99239	1.0884	10	0.87932	D	0	-15.7502	14.777	0.69738	0.0695:0.0:0.9305:0.0	.	278	P38606	VATA_HUMAN	V	278;245	ENSP00000273398:G278V;ENSP00000439874:G245V	ENSP00000273398:G278V	G	+	2	0	ATP6V1A	114990366	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.209000	0.95087	1.366000	0.46076	0.655000	0.94253	GGT		0.418	ATP6V1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354457.1	NM_001690		37	61	1	0	3.38236e-24	0.092188	4.96999e-24	37	61					T	113507676	G	T	113507676	3	4	169	1	0	0	0	0	1	0	0	0	1177	1261	44	5	855	5	ATP6V1A	3	113507676	Missense_Mutation	SNP	G	TCGA-G9-6369-01A-21D-1961-08	12460284	113507676	84514754	9	8065											
MFI2	4241	broad.mit.edu	37	chr3	196744089	196744089	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tccactcggtgacatcggccCggctaccatcccggcacagc	7	6	10	18	4	0	1	0	1	0	0	4	1	2	1	4	4	2	2	4	4	1	1			TCGA-G9-6369-01A-21D-1961-08	TCGA-G9-6369-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	954243c2-9440-4e7f-950d-ab48dfe1b570	46642782-ebe5-4fd1-8991-d0ee682f5ab5	g.chr3:196744089C>T	ENST00000296350.5	-	7	898	c.785G>A	c.(784-786)cGg>cAg	p.R262Q		NM_005929.5	NP_005920.2	P08582	TRFM_HUMAN	antigen p97 (melanoma associated) identified by monoclonal antibodies 133.2 and 96.5	262	Transferrin-like 1. {ECO:0000255|PROSITE- ProRule:PRU00741}.				cellular iron ion homeostasis (GO:0006879)|iron ion import (GO:0097286)|negative regulation of substrate adhesion-dependent cell spreading (GO:1900025)|positive regulation of extracellular matrix disassembly (GO:0090091)|positive regulation of plasminogen activation (GO:0010756)	anchored component of plasma membrane (GO:0046658)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	ferric iron binding (GO:0008199)|iron ion binding (GO:0005506)			breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|prostate(1)	20	all_cancers(143;3.95e-09)|Ovarian(172;0.0634)|Breast(254;0.0838)		Epithelial(36;4.55e-24)|all cancers(36;2.87e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00536)		GACATCGGCCCGGCTACCATC	0.687																																						ENST00000296350.5																			0				breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|prostate(1)	20						c.(784-786)cGg>cAg		antigen p97 (melanoma associated) identified by monoclonal antibodies 133.2 and 96.5							19	19	19					3																	196744089		2200	4297	6497	SO:0001583	missense	4241				cellular iron ion homeostasis|iron ion transport	anchored to membrane|extracellular region|integral to plasma membrane	ferric iron binding|protein binding	g.chr3:196744089C>T		CCDS3325.1, CCDS3326.1	3q28-q29	2012-10-02			ENSG00000163975	ENSG00000163975		"CD molecules"	7037	protein-coding gene	gene with protein product	"melanotransferrin", "membrane-bound transferrin-like protein"	155750					Standard	NM_033316		Approved	CD228, FLJ38863, MAP97, MGC4856, MTF1	uc003fxk.4	P08582	OTTHUMG00000155518	ENST00000296350.5:c.785G>A	3.37:g.196744089C>T	ENSP00000296350:p.Arg262Gln						p.R262Q	NM_005929.5	NP_005920.2	P08582	TRFM_HUMAN	Epithelial(36;4.55e-24)|all cancers(36;2.87e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00536)	7	898	-	all_cancers(143;3.95e-09)|Ovarian(172;0.0634)|Breast(254;0.0838)		262			Transferrin-like 1.		Q9BQE2	Missense_Mutation	SNP	ENST00000296350.5	37	c.785G>A	CCDS3325.1	.	.	.	.	.	.	.	.	.	.	C	16.98	3.270468	0.59540	.	.	ENSG00000163975	ENST00000296350	T	0.40225	1.04	5.69	5.69	0.88448	.	0.250946	0.40144	N	0.001170	T	0.61961	0.2389	M	0.87038	2.855	0.80722	D	1	D	0.62365	0.991	P	0.58928	0.848	T	0.66488	-0.5911	10	0.52906	T	0.07	-34.0105	9.4765	0.38875	0.0:0.7795:0.1445:0.076	.	262	P08582	TRFM_HUMAN	Q	262	ENSP00000296350:R262Q	ENSP00000296350:R262Q	R	-	2	0	MFI2	198228486	0.896000	0.30565	0.991000	0.47740	0.451000	0.32288	2.051000	0.41307	2.687000	0.91594	0.462000	0.41574	CGG		0.687	MFI2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340458.1			10	14	0	0	0	0.058154	0	10	14					T	196744089	C	T	196744089	3	4	169	1	0	0	0	0	1	0	0	0	9522	652	23	2	1471	2	MFI2	3	196744089	Missense_Mutation	SNP	C	TCGA-G9-6369-01A-21D-1961-08	83236413	196744089	1278341	10	8066											
TBC1D14	57533	broad.mit.edu	37	chr4	6995922	6995922	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgtcctaggaatatgaagaCaaggctggaagacctagcaa	15	8	11	7	0	0	3	0	1	0	2	1	5	1	5	2	3	1	2	2	3	8	4			TCGA-G9-6369-01A-21D-1961-08	TCGA-G9-6369-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	954243c2-9440-4e7f-950d-ab48dfe1b570	46642782-ebe5-4fd1-8991-d0ee682f5ab5	g.chr4:6995922C>T	ENST00000409757.4	+	4	979	c.855C>T	c.(853-855)gaC>gaT	p.D285D	RN7SKP292_ENST00000365522.1_RNA|TBC1D14_ENST00000448507.1_Silent_p.D285D|TBC1D14_ENST00000451522.2_Silent_p.D5D|TBC1D14_ENST00000410031.1_Silent_p.D57D|AC097382.5_ENST00000441093.1_RNA	NM_020773.2	NP_065824.2	Q9P2M4	TBC14_HUMAN	TBC1 domain family, member 14	285					negative regulation of autophagy (GO:0010507)|recycling endosome to Golgi transport (GO:0071955)|regulation of autophagic vacuole assembly (GO:2000785)	autophagic vacuole (GO:0005776)|Golgi apparatus (GO:0005794)|recycling endosome (GO:0055037)	protein kinase binding (GO:0019901)|Rab GTPase activator activity (GO:0005097)			breast(1)|endometrium(5)|large_intestine(4)|lung(9)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	22						aatatgaagacaaggctggaa	0.458																																						ENST00000409757.4																			0				breast(1)|endometrium(5)|large_intestine(4)|lung(9)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	22						c.(853-855)gaC>gaT		TBC1 domain family, member 14							127	117	121					4																	6995922		2203	4300	6503	SO:0001819	synonymous_variant	57533					intracellular	Rab GTPase activator activity	g.chr4:6995922C>T	AL833868	CCDS3394.2, CCDS47006.1, CCDS75104.1	4p16.1	2008-01-22			ENSG00000132405	ENSG00000132405			29246	protein-coding gene	gene with protein product		614855				10718198	Standard	NM_020773		Approved	KIAA1322	uc003gjs.4	Q9P2M4	OTTHUMG00000090493	ENST00000409757.4:c.855C>T	4.37:g.6995922C>T						TBC1D14_ENST00000451522.2_Silent_p.D5D|TBC1D14_ENST00000448507.1_Silent_p.D285D|TBC1D14_ENST00000410031.1_Silent_p.D57D	p.D285D	NM_020773.2	NP_065824.2	Q9P2M4	TBC14_HUMAN			4	979	+			285					B9A6L5|D3DVT4|E9PAZ6|Q8IW15|Q8NDK3	Silent	SNP	ENST00000409757.4	37	c.855C>T	CCDS3394.2																																																																																				0.458	TBC1D14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206981.3	NM_020773		8	94	0	0	0	0.038147	0	8	94					T	6995922	C	T	6995922	2	4	169	1	0	0	0	0	0	0	0	1	15600	477	17	3		3	TBC1D14	4	6995922	Silent	SNP	C	TCGA-G9-6369-01A-21D-1961-08		6995922	184158354	11	8067											
TMPRSS11D	9407	broad.mit.edu	37	chr4	68719844	68719844	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgtagctggtgaatttaacTgactattatattcaacattt	12	17	7	5	0	1	2	1	2	0	0	1	2	1	2	0	1	3	2	0	1	7	8			TCGA-G9-6369-01A-21D-1961-08	TCGA-G9-6369-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	954243c2-9440-4e7f-950d-ab48dfe1b570	46642782-ebe5-4fd1-8991-d0ee682f5ab5	g.chr4:68719844T>G	ENST00000283916.6	-	3	289	c.191A>C	c.(190-192)cAg>cCg	p.Q64P	TMPRSS11D_ENST00000509584.1_5'UTR|UBA6-AS1_ENST00000500538.2_RNA|TMPRSS11D_ENST00000545541.1_5'UTR	NM_004262.2	NP_004253.1	O60235	TM11D_HUMAN	transmembrane protease, serine 11D	64	SEA. {ECO:0000255|PROSITE- ProRule:PRU00188}.				proteolysis (GO:0006508)|respiratory gaseous exchange (GO:0007585)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23						TGAATTTAACTGACTATTATA	0.303																																						ENST00000283916.6																			0				cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23						c.(190-192)cAg>cCg		transmembrane protease, serine 11D							74	81	79					4																	68719844		2203	4297	6500	SO:0001583	missense	9407				proteolysis|respiratory gaseous exchange	extracellular region|integral to plasma membrane	serine-type endopeptidase activity	g.chr4:68719844T>G	AB002134	CCDS3518.1	4q13.2	2010-04-13			ENSG00000153802	ENSG00000153802		"Serine peptidases / Transmembrane"	24059	protein-coding gene	gene with protein product	"airway trypsin like protease"	605369				9565616, 9070615	Standard	XM_005265710		Approved		uc003hdq.3	O60235	OTTHUMG00000129300	ENST00000283916.6:c.191A>C	4.37:g.68719844T>G	ENSP00000283916:p.Gln64Pro					RP11-453E17.1_ENST00000500538.2_RNA|TMPRSS11D_ENST00000509584.1_5'UTR|TMPRSS11D_ENST00000545541.1_5'UTR	p.Q64P	NM_004262.2	NP_004253.1	O60235	TM11D_HUMAN			3	289	-			64			SEA.		Q08AF6	Missense_Mutation	SNP	ENST00000283916.6	37	c.191A>C	CCDS3518.1	.	.	.	.	.	.	.	.	.	.	T	14.59	2.580134	0.46006	.	.	ENSG00000153802	ENST00000283916	T	0.32988	1.43	5.3	4.1	0.47936	SEA (3);	0.861997	0.09852	N	0.747406	T	0.37073	0.0990	L	0.54323	1.7	0.20403	N	0.999905	P	0.47191	0.891	P	0.48368	0.575	T	0.13282	-1.0515	10	0.41790	T	0.15	.	8.9549	0.35812	0.0:0.0:0.1967:0.8033	.	64	O60235	TM11D_HUMAN	P	64	ENSP00000283916:Q64P	ENSP00000283916:Q64P	Q	-	2	0	TMPRSS11D	68402439	0.010000	0.17322	0.001000	0.08648	0.086000	0.17979	2.099000	0.41767	1.013000	0.39391	0.460000	0.39030	CAG		0.303	TMPRSS11D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251430.3	NM_004262		6	79	0	0	0	0.021553	0	6	79					G	68719844	T	G	68719844	3	3	169	1	0	0	0	0	1	0	0	0	16238	1580	55	5	1097	5	TMPRSS11D	4	68719844	Missense_Mutation	SNP	T	TCGA-G9-6369-01A-21D-1961-08	61723922	68719844	122434432	12	8068											
ATOH1	474	broad.mit.edu	37	chr4	94750645	94750645	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaatgttatcccgtcgttcAacaacgacaagaagctgtcc	12	9	8	12	3	1	1	1	0	0	1	4	2	3	1	2	0	3	4	2	0	6	2			TCGA-G9-6369-01A-21D-1961-08	TCGA-G9-6369-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	954243c2-9440-4e7f-950d-ab48dfe1b570	46642782-ebe5-4fd1-8991-d0ee682f5ab5	g.chr4:94750645A>G	ENST00000306011.3	+	1	604	c.568A>G	c.(568-570)Aac>Gac	p.N190D		NM_005172.1	NP_005163.1	Q92858	ATOH1_HUMAN	atonal homolog 1 (Drosophila)	190	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				auditory receptor cell fate determination (GO:0042668)|auditory receptor cell fate specification (GO:0042667)|axon guidance (GO:0007411)|central nervous system development (GO:0007417)|cerebral cortex development (GO:0021987)|inner ear morphogenesis (GO:0042472)|negative regulation of apoptotic process (GO:0043066)|neuron migration (GO:0001764)|positive regulation of auditory receptor cell differentiation (GO:0045609)|positive regulation of neuron differentiation (GO:0045666)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	11		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;3.57e-07)		CCCGTCGTTCAACAACGACAA	0.577																																						ENST00000306011.3																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	11						c.(568-570)Aac>Gac		atonal homolog 1 (Drosophila)							52	53	53					4																	94750645		2203	4300	6503	SO:0001583	missense	474				transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding transcription factor activity	g.chr4:94750645A>G	U61148	CCDS3638.1	4q22	2013-05-21			ENSG00000172238	ENSG00000172238		"Basic helix-loop-helix proteins"	797	protein-coding gene	gene with protein product		601461				8872459	Standard	NM_005172		Approved	HATH1, MATH-1, Math1, bHLHa14	uc003hta.1	Q92858	OTTHUMG00000130972	ENST00000306011.3:c.568A>G	4.37:g.94750645A>G	ENSP00000302216:p.Asn190Asp						p.N190D	NM_005172.1	NP_005163.1	Q92858	ATOH1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;3.57e-07)	1	604	+		Hepatocellular(203;0.114)	190			Helix-loop-helix motif.		Q14CT9	Missense_Mutation	SNP	ENST00000306011.3	37	c.568A>G	CCDS3638.1	.	.	.	.	.	.	.	.	.	.	A	14.14	2.447492	0.43429	.	.	ENSG00000172238	ENST00000306011	D	0.97811	-4.55	4.26	4.26	0.50523	Helix-loop-helix DNA-binding (5);	0.055580	0.64402	D	0.000001	D	0.93400	0.7895	N	0.16368	0.405	0.42300	D	0.992175	B	0.20164	0.042	B	0.22601	0.04	D	0.90787	0.4683	10	0.23302	T	0.38	-21.6602	13.2269	0.59919	1.0:0.0:0.0:0.0	.	190	Q92858	ATOH1_HUMAN	D	190	ENSP00000302216:N190D	ENSP00000302216:N190D	N	+	1	0	ATOH1	94969668	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.791000	0.47829	1.797000	0.52628	0.448000	0.29417	AAC		0.577	ATOH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253585.1	NM_005172		31	39	0	0	0	0.037714	0	31	39					G	94750645	A	G	94750645	3	3	169	1	0	0	0	0	1	0	0	0	1112	130	5	4	570	4	ATOH1	4	94750645	Missense_Mutation	SNP	A	TCGA-G9-6369-01A-21D-1961-08	26030801	94750645	96403631	13	8069											
MEF2C	4208	broad.mit.edu	37	chr5	88027604	88027604	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gaactcggagatctggtttaCggttattcattcctaaattc	10	15	8	8	2	2	1	1	0	1	1	5	3	3	1	1	3	2	2	1	3	5	7			TCGA-G9-6369-01A-21D-1961-08	TCGA-G9-6369-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	954243c2-9440-4e7f-950d-ab48dfe1b570	46642782-ebe5-4fd1-8991-d0ee682f5ab5	g.chr5:88027604C>T	ENST00000437473.2	-	7	1169	c.752G>A	c.(751-753)cGt>cAt	p.R251H	MEF2C_ENST00000503554.1_5'Flank|MEF2C_ENST00000340208.5_Missense_Mutation_p.R269H|MEF2C_ENST00000514015.1_Missense_Mutation_p.R251H|MEF2C_ENST00000539796.1_Missense_Mutation_p.R203H|MEF2C_ENST00000514028.1_Missense_Mutation_p.R251H|MEF2C_ENST00000508569.1_Missense_Mutation_p.R251H|MEF2C_ENST00000506554.1_Missense_Mutation_p.R251H|MEF2C_ENST00000510942.1_Missense_Mutation_p.R251H|MEF2C_ENST00000424173.2_Missense_Mutation_p.R249H|MEF2C_ENST00000504921.2_Missense_Mutation_p.R251H	NM_001193350.1|NM_002397.4	NP_001180279.1|NP_002388.2	Q06413	MEF2C_HUMAN	myocyte enhancer factor 2C	251					apoptotic process (GO:0006915)|B cell homeostasis (GO:0001782)|B cell proliferation (GO:0042100)|B cell receptor signaling pathway (GO:0050853)|blood vessel development (GO:0001568)|blood vessel remodeling (GO:0001974)|cardiac muscle hypertrophy in response to stress (GO:0014898)|cardiac ventricle formation (GO:0003211)|cartilage morphogenesis (GO:0060536)|cell morphogenesis involved in neuron differentiation (GO:0048667)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|cellular response to fluid shear stress (GO:0071498)|cellular response to glucose stimulus (GO:0071333)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to parathyroid hormone stimulus (GO:0071374)|cellular response to retinoic acid (GO:0071300)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cellular response to trichostatin A (GO:0035984)|chondrocyte differentiation (GO:0002062)|dentate gyrus development (GO:0021542)|embryonic viscerocranium morphogenesis (GO:0048703)|endochondral ossification (GO:0001958)|epithelial cell proliferation involved in renal tubule morphogenesis (GO:2001013)|germinal center formation (GO:0002467)|glomerulus morphogenesis (GO:0072102)|heart development (GO:0007507)|heart looping (GO:0001947)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|MAPK cascade (GO:0000165)|melanocyte differentiation (GO:0030318)|monocyte differentiation (GO:0030224)|muscle cell differentiation (GO:0042692)|muscle cell fate determination (GO:0007521)|muscle organ development (GO:0007517)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|myotube differentiation (GO:0014902)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of gene expression (GO:0010629)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of ossification (GO:0030279)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nephron tubule epithelial cell differentiation (GO:0072160)|nervous system development (GO:0007399)|neural crest cell differentiation (GO:0014033)|neuron development (GO:0048666)|neuron differentiation (GO:0030182)|neuron migration (GO:0001764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|osteoblast differentiation (GO:0001649)|outflow tract morphogenesis (GO:0003151)|palate development (GO:0060021)|platelet formation (GO:0030220)|positive regulation of alkaline phosphatase activity (GO:0010694)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of behavioral fear response (GO:2000987)|positive regulation of bone mineralization (GO:0030501)|positive regulation of cardiac muscle cell differentiation (GO:2000727)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|positive regulation of cell proliferation in bone marrow (GO:0071864)|positive regulation of gene expression (GO:0010628)|positive regulation of macrophage apoptotic process (GO:2000111)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of myoblast differentiation (GO:0045663)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein homodimerization activity (GO:0090073)|positive regulation of skeletal muscle cell differentiation (GO:2001016)|positive regulation of skeletal muscle tissue development (GO:0048643)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|primary heart field specification (GO:0003138)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of dendritic spine development (GO:0060998)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of germinal center formation (GO:0002634)|regulation of megakaryocyte differentiation (GO:0045652)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of neuron apoptotic process (GO:0043523)|regulation of neurotransmitter secretion (GO:0046928)|regulation of sarcomere organization (GO:0060297)|regulation of synapse assembly (GO:0051963)|regulation of synaptic activity (GO:0060025)|regulation of synaptic plasticity (GO:0048167)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of transcription, DNA-templated (GO:0006355)|renal tubule morphogenesis (GO:0061333)|response to ischemia (GO:0002931)|response to virus (GO:0009615)|response to vitamin E (GO:0033197)|secondary heart field specification (GO:0003139)|sinoatrial valve morphogenesis (GO:0003185)|skeletal muscle tissue development (GO:0007519)|smooth muscle cell differentiation (GO:0051145)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|ventricular cardiac muscle cell differentiation (GO:0055012)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)|sarcomere (GO:0030017)	activating transcription factor binding (GO:0033613)|AT DNA binding (GO:0003680)|chromatin binding (GO:0003682)|core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|miRNA binding (GO:0035198)|protein heterodimerization activity (GO:0046982)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity (GO:0000983)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	40		all_cancers(142;6.67e-05)|all_epithelial(76;7.77e-07)|Lung NSC(167;0.00566)|all_lung(232;0.00732)|Colorectal(57;0.0959)|Ovarian(174;0.1)		OV - Ovarian serous cystadenocarcinoma(54;1.04e-33)|Epithelial(54;1.6e-28)|all cancers(79;2.9e-25)		ATCTGGTTTACGGTTATTCAT	0.388										HNSCC(66;0.2)																												ENST00000504921.2																			0				breast(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	40						c.(751-753)cGt>cAt		myocyte enhancer factor 2C							106	103	104					5																	88027604		1843	4087	5930	SO:0001583	missense	4208				apoptosis|B cell proliferation|innate immune response|learning or memory|muscle cell differentiation|muscle organ development|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|neuron development|positive regulation of muscle cell differentiation|positive regulation of survival gene product expression|positive regulation of transcription from RNA polymerase II promoter|regulation of germinal center formation|regulation of megakaryocyte differentiation|regulation of synaptic activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	nuclear speck	activating transcription factor binding|protein heterodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	g.chr5:88027604C>T	AL833268	CCDS47244.1, CCDS47245.1, CCDS54877.1, CCDS54878.1	5q14.3	2013-07-03	2007-04-24		ENSG00000081189	ENSG00000081189		"Myocyte enhancer factors"	6996	protein-coding gene	gene with protein product		600662				8455629	Standard	NM_002397		Approved		uc003kjl.3	Q06413	OTTHUMG00000162634	ENST00000437473.2:c.752G>A	5.37:g.88027604C>T	ENSP00000396219:p.Arg251His	HNSCC(66;0.2)				MEF2C_ENST00000514015.1_Missense_Mutation_p.R251H|MEF2C_ENST00000506554.1_Missense_Mutation_p.R251H|MEF2C_ENST00000437473.2_Missense_Mutation_p.R251H|MEF2C_ENST00000508569.1_Missense_Mutation_p.R251H|MEF2C_ENST00000510942.1_Missense_Mutation_p.R251H|MEF2C_ENST00000424173.2_Missense_Mutation_p.R249H|MEF2C_ENST00000539796.1_Missense_Mutation_p.R203H|MEF2C_ENST00000514028.1_Missense_Mutation_p.R251H|MEF2C_ENST00000340208.5_Missense_Mutation_p.R269H	p.R251H			Q06413	MEF2C_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;1.04e-33)|Epithelial(54;1.6e-28)|all cancers(79;2.9e-25)	7	1424	-		all_cancers(142;6.67e-05)|all_epithelial(76;7.77e-07)|Lung NSC(167;0.00566)|all_lung(232;0.00732)|Colorectal(57;0.0959)|Ovarian(174;0.1)	251					C9JMZ0|D7F7N5|F8W7V7	Missense_Mutation	SNP	ENST00000437473.2	37	c.752G>A	CCDS47245.1	.	.	.	.	.	.	.	.	.	.	C	35	5.491084	0.96339	.	.	ENSG00000081189	ENST00000340208;ENST00000424173;ENST00000504921;ENST00000514028;ENST00000437473;ENST00000510942;ENST00000506554;ENST00000508569;ENST00000514015;ENST00000539796	T;T;T;T;T;T;T;T;T;T	0.38240	1.15;1.15;1.15;1.15;1.15;1.15;1.15;1.15;1.15;1.15	6.03	6.03	0.97812	.	0.000000	0.85682	D	0.000000	T	0.65481	0.2695	M	0.80183	2.485	0.80722	D	1	P;D;D;D	0.89917	0.573;0.962;1.0;1.0	B;P;D;D	0.79784	0.072;0.479;0.992;0.993	T	0.64931	-0.6291	10	0.54805	T	0.06	-5.019	20.5666	0.99351	0.0:1.0:0.0:0.0	.	249;269;251;251	C9JMZ0;F8W7V7;Q06413;Q06413-2	.;.;MEF2C_HUMAN;.	H	269;249;251;251;251;251;251;251;251;203	ENSP00000340874:R269H;ENSP00000389610:R249H;ENSP00000421925:R251H;ENSP00000426665:R251H;ENSP00000396219:R251H;ENSP00000422390:R251H;ENSP00000425636:R251H;ENSP00000423597:R251H;ENSP00000424606:R251H;ENSP00000441153:R203H	ENSP00000340874:R269H	R	-	2	0	MEF2C	88063360	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.487000	0.81328	2.854000	0.98071	0.655000	0.94253	CGT		0.388	MEF2C-003	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000369817.1	NM_002397		19	30	0	0	0	0.062417	0	19	30					T	88027604	C	T	88027604	3	4	169	1	0	0	0	0	1	0	0	0	9457	536	19	1	689	1	MEF2C	5	88027604	Missense_Mutation	SNP	C	TCGA-G9-6369-01A-21D-1961-08		88027604	92887656	14	8070											
SPINK1	6690	broad.mit.edu	37	chr5	147204248	147204250	+	In_Frame_Del	DEL	GAG	GAG	-																															caaggcccagatttttgaatGaggatagaagtctggcgttt																								rs543864495	byFrequency	TCGA-G9-6369-01A-21D-1961-08	TCGA-G9-6369-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	954243c2-9440-4e7f-950d-ab48dfe1b570	46642782-ebe5-4fd1-8991-d0ee682f5ab5	g.chr5:147204248_147204250delGAG	ENST00000296695.5	-	4	422_424	c.214_216delCTC	c.(214-216)ctcdel	p.L72del		NM_003122.3	NP_003113.2	P00995	ISK1_HUMAN	serine peptidase inhibitor, Kazal type 1	72	Kazal-like. {ECO:0000255|PROSITE- ProRule:PRU00798}.				negative regulation of calcium ion import (GO:0090281)|negative regulation of nitric oxide mediated signal transduction (GO:0010751)|negative regulation of peptidyl-tyrosine phosphorylation (GO:0050732)|negative regulation of serine-type endopeptidase activity (GO:1900004)|regulation of acrosome reaction (GO:0060046)|regulation of store-operated calcium entry (GO:2001256)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)			endometrium(1)|skin(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATTTTTGAATGAGGATAGAAGTC	0.399									Hereditary Pancreatitis																													ENST00000296695.5																			0				endometrium(1)|skin(1)	2						c.(214-216)del		serine peptidase inhibitor, Kazal type 1																																				SO:0001651	inframe_deletion	6690	Hereditary Pancreatitis	Familial Cancer Database			extracellular region	protein binding|serine-type endopeptidase inhibitor activity	g.chr5:147204248_147204250delGAG		CCDS4286.1	5q32	2011-08-31	2005-08-17		ENSG00000164266	ENSG00000164266		"Serine peptidase inhibitors, Kazal type"	11244	protein-coding gene	gene with protein product		167790	"serine protease inhibitor, Kazal type 1"				Standard	XM_005268501		Approved	Spink3, PCTT, PSTI, TATI	uc003los.2	P00995	OTTHUMG00000129730	ENST00000296695.5:c.214_216delCTC	5.37:g.147204248_147204250delGAG	ENSP00000296695:p.Leu72del						p.L72del	NM_003122.3	NP_003113.2	P00995	ISK1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		4	422_424	-			72			Kazal-like.			In_Frame_Del	DEL	ENST00000296695.5	37	c.214_216delCTC	CCDS4286.1																																																																																				0.399	SPINK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251940.2	NM_003122		8	85						8	85	---	---	---	---	-	147204250	GAG	-	147204248	7	5	169	1	0	1	0	1	0	0	0	0	15056	1277	45	0	27	0	SPINK1	5	147204248	In_Frame_Del	DEL	GAG	TCGA-G9-6369-01A-21D-1961-08	59176644	147204248	33711012	15	8071											
TNXB	7148	broad.mit.edu	37	chr6	32053654	32053654	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tggcggacgtcccctggcagCacttcctcatgtgcccccgg	4	8	12	17	3	1	0	1	0	0	0	3	1	3	1	5	4	2	2	5	4	0	1			TCGA-G9-6369-01A-21D-1961-08	TCGA-G9-6369-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	954243c2-9440-4e7f-950d-ab48dfe1b570	46642782-ebe5-4fd1-8991-d0ee682f5ab5	g.chr6:32053654C>A	ENST00000375244.3	-	7	3222	c.3021G>T	c.(3019-3021)gtG>gtT	p.V1007V	TNXB_ENST00000375247.2_Silent_p.V1007V			P22105	TENX_HUMAN	tenascin XB	1094	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				actin cytoskeleton organization (GO:0030036)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|collagen fibril organization (GO:0030199)|collagen metabolic process (GO:0032963)|elastic fiber assembly (GO:0048251)|extracellular fibril organization (GO:0043206)|fatty acid metabolic process (GO:0006631)|regulation of JUN kinase activity (GO:0043506)|single organismal cell-cell adhesion (GO:0016337)|triglyceride metabolic process (GO:0006641)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						CCCCTGGCAGCACTTCCTCAT	0.682																																						ENST00000375244.3																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						c.(3019-3021)gtG>gtT		tenascin XB							56	66	62					6																	32053654		1299	2563	3862	SO:0001819	synonymous_variant	7148				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding	g.chr6:32053654C>A	X71923	CCDS4736.1	6p21.3	2013-02-11			ENSG00000168477	ENSG00000168477		"Fibrinogen C domain containing", "Fibronectin type III domain containing"	11976	protein-coding gene	gene with protein product		600985		TNXB1, TNXB2		8530023	Standard	NM_019105		Approved	TNXBS, XBS, XB	uc021yvf.2	P22105	OTTHUMG00000031088	ENST00000375244.3:c.3021G>T	6.37:g.32053654C>A						TNXB_ENST00000375247.2_Silent_p.V1007V	p.V1007V			P22105	TENX_HUMAN			7	3222	-			1094			Fibronectin type-III 2.		P78530|P78531|Q08424|Q08AM0|Q08AM1|Q59GU7|Q5SQD3|Q5ST74|Q7L8Q4|Q8N4R1|Q9NPK9|Q9UC10|Q9UC11|Q9UC12|Q9UC13|Q9UMG7	Silent	SNP	ENST00000375244.3	37	c.3021G>T																																																																																					0.682	TNXB-001	PUTATIVE	not_organism_supported|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000268927.2	NM_019105		5	109	1	0	0.000602214	0.014758	0.000788353	5	109					A	32053654	C	A	32053654	2	1	169	1	0	0	0	0	0	0	0	1	16343	697	25	5		5	TNXB	6	32053654	Silent	SNP	C	TCGA-G9-6369-01A-21D-1961-08		32053654	139061413	16	8072											
SOBP	55084	broad.mit.edu	37	chr6	107824969	107824969	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ggagctaccctacagatgggGagagccggcagcacatttct	10	7	13	11	1	1	2	0	0	1	2	1	4	1	3	2	4	5	3	2	4	2	3			TCGA-G9-6369-01A-21D-1961-08	TCGA-G9-6369-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	954243c2-9440-4e7f-950d-ab48dfe1b570	46642782-ebe5-4fd1-8991-d0ee682f5ab5	g.chr6:107824969G>A	ENST00000317357.5	+	2	864	c.205G>A	c.(205-207)Gag>Aag	p.E69K		NM_018013.3	NP_060483.3			sine oculis binding protein homolog (Drosophila)											endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	26		all_cancers(87;5.26e-06)|Acute lymphoblastic leukemia(125;2.87e-08)|all_hematologic(75;1.14e-06)|all_epithelial(87;0.00193)|Colorectal(196;0.156)		BRCA - Breast invasive adenocarcinoma(108;0.026)|all cancers(137;0.087)|Epithelial(106;0.104)|OV - Ovarian serous cystadenocarcinoma(136;0.154)		TACAGATGGGGAGAGCCGGCA	0.403																																						ENST00000317357.5																			0				endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	26						c.(205-207)Gag>Aag		sine oculis binding protein homolog (Drosophila)							127	121	123					6																	107824969		1860	4093	5953	SO:0001583	missense	55084						metal ion binding	g.chr6:107824969G>A	AK001021	CCDS43488.1	6q21	2007-03-15			ENSG00000112320	ENSG00000112320			29256	protein-coding gene	gene with protein product		613667					Standard	NM_018013		Approved	FLJ10159	uc003prx.3	A7XYQ1	OTTHUMG00000015312	ENST00000317357.5:c.205G>A	6.37:g.107824969G>A	ENSP00000318900:p.Glu69Lys						p.E69K	NM_018013.3	NP_060483.3	A7XYQ1	SOBP_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.026)|all cancers(137;0.087)|Epithelial(106;0.104)|OV - Ovarian serous cystadenocarcinoma(136;0.154)	2	864	+		all_cancers(87;5.26e-06)|Acute lymphoblastic leukemia(125;2.87e-08)|all_hematologic(75;1.14e-06)|all_epithelial(87;0.00193)|Colorectal(196;0.156)	69						Missense_Mutation	SNP	ENST00000317357.5	37	c.205G>A	CCDS43488.1	.	.	.	.	.	.	.	.	.	.	G	34	5.350376	0.95830	.	.	ENSG00000112320	ENST00000317357	T	0.11821	2.74	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	T	0.20861	0.0502	L	0.34521	1.04	0.80722	D	1	D	0.71674	0.998	D	0.80764	0.994	T	0.01621	-1.1310	10	0.51188	T	0.08	-13.6761	19.4461	0.94847	0.0:0.0:1.0:0.0	.	69	A7XYQ1	SOBP_HUMAN	K	69	ENSP00000318900:E69K	ENSP00000318900:E69K	E	+	1	0	SOBP	107931662	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.476000	0.97823	2.596000	0.87737	0.655000	0.94253	GAG		0.403	SOBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041693.2	NM_018013		6	94	0	0	0	0.02938	0	6	94					A	107824969	G	A	107824969	3	1	169	1	0	0	0	0	1	0	0	0	14912	1175	41	3	211	3	SOBP	6	107824969	Missense_Mutation	SNP	G	TCGA-G9-6369-01A-21D-1961-08	75771315	107824969	63290098	17	8073											
INTS1	26173	broad.mit.edu	37	chr7	1542704	1542704	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cactggacaacgcggccgccGcatcccgcttgcgctcagaa	8	5	11	17	6	1	1	1	0	0	1	2	2	2	2	3	2	2	3	3	2	2	1			TCGA-G9-6369-01A-21D-1961-08	TCGA-G9-6369-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	954243c2-9440-4e7f-950d-ab48dfe1b570	46642782-ebe5-4fd1-8991-d0ee682f5ab5	g.chr7:1542704G>A	ENST00000404767.3	-	3	267	c.182C>T	c.(181-183)gCg>gTg	p.A61V	INTS1_ENST00000389470.4_Missense_Mutation_p.A189V|INTS1_ENST00000493531.1_5'Flank	NM_001080453.2	NP_001073922.2	Q8N201	INT1_HUMAN	integrator complex subunit 1	61	Poly-Ala.				inner cell mass cell proliferation (GO:0001833)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|snRNA processing (GO:0016180)|U2 snRNA 3'-end processing (GO:0034474)	integral component of membrane (GO:0016021)|integrator complex (GO:0032039)|membrane (GO:0016020)				autonomic_ganglia(1)|cervix(1)|endometrium(14)|kidney(3)|large_intestine(7)|lung(24)|ovary(1)|prostate(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	62		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15)		CGCGGCCGCCGCATCCCGCTT	0.657																																						ENST00000389470.4																			0				autonomic_ganglia(1)|cervix(1)|endometrium(14)|kidney(3)|large_intestine(7)|lung(24)|ovary(1)|prostate(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	62						c.(565-567)gCg>gTg		integrator complex subunit 1							55	68	64					7																	1542704		2021	4166	6187	SO:0001583	missense	26173				snRNA processing	integral to membrane|integrator complex|nuclear membrane		g.chr7:1542704G>A	AB037861	CCDS47526.1	7p22.3	2009-11-06			ENSG00000164880	ENSG00000164880			24555	protein-coding gene	gene with protein product		611345				16239144	Standard	NM_001080453		Approved	DKFZp586J0619, KIAA1440, INT1, NET28	uc003skn.2	Q8N201	OTTHUMG00000151449	ENST00000404767.3:c.182C>T	7.37:g.1542704G>A	ENSP00000385722:p.Ala61Val					INTS1_ENST00000404767.3_Missense_Mutation_p.A61V	p.A189V			Q8N201	INT1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15)	4	565	-		Ovarian(82;0.0253)	61					A6NJ44|Q6NT70|Q6UX74|Q8WV40|Q96D36|Q9NTD1|Q9P2A8|Q9Y3W8	Missense_Mutation	SNP	ENST00000404767.3	37	c.566C>T	CCDS47526.1	.	.	.	.	.	.	.	.	.	.	G	16.66	3.184869	0.57909	.	.	ENSG00000164880	ENST00000404767;ENST00000389470	T;T	0.47869	0.83;0.83	4.61	3.72	0.42706	.	0.137694	0.49916	D	0.000129	T	0.43897	0.1268	L	0.61218	1.895	0.45354	D	0.998342	P;P	0.43750	0.816;0.816	B;B	0.36766	0.232;0.116	T	0.52660	-0.8546	10	0.72032	D	0.01	.	13.7251	0.62754	0.0:0.156:0.844:0.0	.	189;61	A4D212;Q8N201	.;INT1_HUMAN	V	61;189	ENSP00000385722:A61V;ENSP00000374121:A189V	ENSP00000374121:A189V	A	-	2	0	INTS1	1509230	1.000000	0.71417	0.767000	0.31495	0.393000	0.30537	5.086000	0.64474	1.134000	0.42165	0.563000	0.77884	GCG		0.657	INTS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323683.1			5	110	0	0	0	0.014758	0	5	110					A	1542704	G	A	1542704	3	1	169	1	0	0	0	0	1	0	0	0	7775	1087	38	1	6574	1	INTS1	7	1542704	Missense_Mutation	SNP	G	TCGA-G9-6369-01A-21D-1961-08		1542704	157595959	18	8074											
RP9	6100	broad.mit.edu	37	chr7	33138944	33138944	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ataactttgacttctttcccCagtggcatccaaagtccttt	9	15	5	12	0	1	1	0	1	1	0	4	1	4	1	4	1	1	1	4	1	2	5			TCGA-G9-6369-01A-21D-1961-08	TCGA-G9-6369-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	954243c2-9440-4e7f-950d-ab48dfe1b570	46642782-ebe5-4fd1-8991-d0ee682f5ab5	g.chr7:33138944C>T	ENST00000297157.3	-	3	305	c.288G>A	c.(286-288)ctG>ctA	p.L96L		NM_203288.1	NP_976033.1	Q8TA86	RP9_HUMAN	retinitis pigmentosa 9 (autosomal dominant)	96	PIM1-binding. {ECO:0000250}.				cognition (GO:0050890)|RNA splicing (GO:0008380)	nucleus (GO:0005634)|signal recognition particle receptor complex (GO:0005785)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			large_intestine(3)|lung(3)|urinary_tract(1)	7			GBM - Glioblastoma multiforme(11;0.0403)			CTTCTTTCCCCAGTGGCATCC	0.428																																						ENST00000297157.3																			0				large_intestine(3)|lung(3)|urinary_tract(1)	7						c.(286-288)ctG>ctA		retinitis pigmentosa 9 (autosomal dominant)							166	146	153					7																	33138944		2203	4300	6503	SO:0001819	synonymous_variant	6100				RNA splicing	nucleus	nucleic acid binding|protein binding|zinc ion binding	g.chr7:33138944C>T	AX016710	CCDS5440.1	7p14.3	2014-01-28			ENSG00000164610	ENSG00000164610			10288	protein-coding gene	gene with protein product	"Pim-1 kinase associated protein"	607331				8513323	Standard	NM_203288		Approved	PAP-1	uc003tdm.3	Q8TA86	OTTHUMG00000152988	ENST00000297157.3:c.288G>A	7.37:g.33138944C>T							p.L96L	NM_203288.1	NP_976033.1	Q8TA86	RP9_HUMAN	GBM - Glioblastoma multiforme(11;0.0403)		3	305	-			96			PIM1-binding (By similarity).			Silent	SNP	ENST00000297157.3	37	c.288G>A	CCDS5440.1																																																																																				0.428	RP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328914.1	NM_203288		4	151	0	0	0	0.014758	0	4	151					T	33138944	C	T	33138944	2	4	169	1	0	0	0	0	0	0	0	1	13535	581	21	3		3	RP9	7	33138944	Silent	SNP	C	TCGA-G9-6369-01A-21D-1961-08	31596240	33138944	125999719	19	8075											
ARHGEF10	9639	broad.mit.edu	37	chr8	1844605	1844605	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacaaagcccgcttttcttgAatttttaaaggtaagcgctt	11	14	7	9	2	1	1	0	1	1	0	1	1	1	1	1	1	2	3	1	1	5	8			TCGA-G9-6369-01A-21D-1961-08	TCGA-G9-6369-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	954243c2-9440-4e7f-950d-ab48dfe1b570	46642782-ebe5-4fd1-8991-d0ee682f5ab5	g.chr8:1844605A>C	ENST00000398564.1	+	14	1622	c.1622A>C	c.(1621-1623)gAa>gCa	p.E541A	ARHGEF10_ENST00000349830.3_Missense_Mutation_p.E516A|ARHGEF10_ENST00000262112.6_Missense_Mutation_p.E541A|ARHGEF10_ENST00000520359.1_Missense_Mutation_p.E478A|ARHGEF10_ENST00000398560.1_Missense_Mutation_p.E502A|ARHGEF10_ENST00000518288.1_Missense_Mutation_p.E541A			O15013	ARHGA_HUMAN	Rho guanine nucleotide exchange factor (GEF) 10	541	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				centrosome duplication (GO:0051298)|myelination in peripheral nervous system (GO:0022011)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of stress fiber assembly (GO:0051496)|spindle assembly involved in mitosis (GO:0090307)	centrosome (GO:0005813)|cytosol (GO:0005829)	kinesin binding (GO:0019894)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			endometrium(3)|large_intestine(11)|lung(11)|prostate(3)|skin(3)|stomach(3)|urinary_tract(1)	35		Colorectal(14;3.46e-05)|Renal(68;0.000518)|Ovarian(12;0.00409)|Myeloproliferative disorder(644;0.0255)|Hepatocellular(245;0.0834)		COAD - Colon adenocarcinoma(149;1.62e-05)|BRCA - Breast invasive adenocarcinoma(11;1.68e-05)|KIRC - Kidney renal clear cell carcinoma(542;0.00361)|READ - Rectum adenocarcinoma(644;0.0718)		GCTTTTCTTGAATTTTTAAAG	0.388																																						ENST00000518288.1																			0				endometrium(3)|large_intestine(11)|lung(11)|prostate(3)|skin(3)|stomach(3)|urinary_tract(1)	35						c.(1621-1623)gAa>gCa		Rho guanine nucleotide exchange factor (GEF) 10							79	82	81					8																	1844605		2203	4300	6503	SO:0001583	missense	9639				centrosome duplication|myelination in peripheral nervous system|positive regulation of GTP catabolic process|positive regulation of stress fiber assembly|regulation of Rho protein signal transduction|spindle assembly involved in mitosis	centrosome|cytosol|soluble fraction	kinesin binding|Rho guanyl-nucleotide exchange factor activity	g.chr8:1844605A>C	AF009205	CCDS34794.1	8p23	2014-09-17			ENSG00000104728	ENSG00000104728		"Rho guanine nucleotide exchange factors"	14103	protein-coding gene	gene with protein product		608136				9205841, 16896804	Standard	XM_005266039		Approved	KIAA0294, Gef10	uc003wpr.3	O15013	OTTHUMG00000163626	ENST00000398564.1:c.1622A>C	8.37:g.1844605A>C	ENSP00000381571:p.Glu541Ala					ARHGEF10_ENST00000520359.1_Missense_Mutation_p.E478A|ARHGEF10_ENST00000398560.1_Missense_Mutation_p.E502A|ARHGEF10_ENST00000262112.6_Missense_Mutation_p.E541A|ARHGEF10_ENST00000398564.1_Missense_Mutation_p.E541A|ARHGEF10_ENST00000349830.3_Missense_Mutation_p.E516A	p.E541A			O15013	ARHGA_HUMAN		COAD - Colon adenocarcinoma(149;1.62e-05)|BRCA - Breast invasive adenocarcinoma(11;1.68e-05)|KIRC - Kidney renal clear cell carcinoma(542;0.00361)|READ - Rectum adenocarcinoma(644;0.0718)	15	1785	+		Colorectal(14;3.46e-05)|Renal(68;0.000518)|Ovarian(12;0.00409)|Myeloproliferative disorder(644;0.0255)|Hepatocellular(245;0.0834)	541			DH.		O14665|Q2KHR8|Q68D55|Q8IWD9|Q8IY77	Missense_Mutation	SNP	ENST00000398564.1	37	c.1622A>C		.	.	.	.	.	.	.	.	.	.	A	10.29	1.309640	0.23821	.	.	ENSG00000104728	ENST00000349830;ENST00000520359;ENST00000518288;ENST00000398560;ENST00000398564;ENST00000262112;ENST00000522435	T;T;T;T;T;T;T	0.62788	-0.0;-0.0;-0.0;-0.0;-0.0;-0.0;-0.0	4.91	3.73	0.42828	Dbl homology (DH) domain (5);	0.304291	0.34268	N	0.004104	T	0.61299	0.2336	L	0.35414	1.06	0.47245	D	0.999361	P;B;P;P	0.45283	0.855;0.022;0.825;0.539	P;B;P;P	0.51701	0.677;0.136;0.525;0.597	T	0.62671	-0.6805	10	0.72032	D	0.01	-14.0089	11.672	0.51408	0.8511:0.1489:0.0:0.0	.	541;502;478;516	O15013;E9PB39;O15013-7;O15013-5	ARHGA_HUMAN;.;.;.	A	516;478;541;502;541;541;189	ENSP00000340297:E516A;ENSP00000427909:E478A;ENSP00000431012:E541A;ENSP00000381568:E502A;ENSP00000381571:E541A;ENSP00000262112:E541A;ENSP00000427768:E189A	ENSP00000262112:E541A	E	+	2	0	ARHGEF10	1832012	1.000000	0.71417	0.014000	0.15608	0.022000	0.10575	6.706000	0.74649	0.681000	0.31386	0.460000	0.39030	GAA		0.388	ARHGEF10-203	KNOWN	basic	protein_coding	protein_coding				4	82	0	0	0	0.009096	0	4	82					C	1844605	A	C	1844605	3	2	169	1	0	0	0	0	1	0	0	0	894	246	9	5	1597	5	ARHGEF10	8	1844605	Missense_Mutation	SNP	A	TCGA-G9-6369-01A-21D-1961-08		1844605	144519417	20	8076											
PDE7A	5150	broad.mit.edu	37	chr8	66753620	66753620	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gattacctgagagagctgccGgggattggggcagccgaaga	10	6	17	8	2	0	3	0	1	0	2	0	7	0	4	3	4	4	2	3	4	2	2			TCGA-G9-6369-01A-21D-1961-08	TCGA-G9-6369-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	954243c2-9440-4e7f-950d-ab48dfe1b570	46642782-ebe5-4fd1-8991-d0ee682f5ab5	g.chr8:66753620G>A	ENST00000401827.3	-	1	567	c.124C>T	c.(124-126)Cgg>Tgg	p.R42W	CTD-2532N20.1_ENST00000607622.1_lincRNA|PDE7A_ENST00000396642.3_Missense_Mutation_p.R42W	NM_001242318.2	NP_001229247.1	Q13946	PDE7A_HUMAN	phosphodiesterase 7A	42					cAMP catabolic process (GO:0006198)|signal transduction (GO:0007165)	cytosol (GO:0005829)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|metal ion binding (GO:0046872)			large_intestine(5)|lung(3)|stomach(1)|urinary_tract(1)	10			Epithelial(68;0.0509)|BRCA - Breast invasive adenocarcinoma(89;0.111)|all cancers(69;0.168)|OV - Ovarian serous cystadenocarcinoma(28;0.238)		Caffeine(DB00201)|Dyphylline(DB00651)|Ketotifen(DB00920)	GAGAGCTGCCGGGGATTGGGG	0.657																																						ENST00000401827.3																			0				large_intestine(5)|lung(3)|stomach(1)|urinary_tract(1)	10						c.(124-126)Cgg>Tgg		phosphodiesterase 7A	Dyphylline(DB00651)|Ketotifen(DB00920)						13	19	17					8																	66753620		1903	4118	6021	SO:0001583	missense	5150					cell fraction|cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding	g.chr8:66753620G>A	L12052	CCDS34901.1, CCDS56538.1	8q13	2008-03-18				ENSG00000205268	3.1.4.17	"Phosphodiesterases"	8791	protein-coding gene	gene with protein product		171885				8389765, 9521885	Standard	NM_001242318		Approved	HCP1	uc003xvq.3	Q13946		ENST00000401827.3:c.124C>T	8.37:g.66753620G>A	ENSP00000385632:p.Arg42Trp					PDE7A_ENST00000396642.3_Missense_Mutation_p.R42W	p.R42W	NM_001242318.2	NP_001229247.1	Q13946	PDE7A_HUMAN	Epithelial(68;0.0509)|BRCA - Breast invasive adenocarcinoma(89;0.111)|all cancers(69;0.168)|OV - Ovarian serous cystadenocarcinoma(28;0.238)		1	567	-			42					A0AVH6|A8K436|A8K9G5|O15380|Q96T72	Missense_Mutation	SNP	ENST00000401827.3	37	c.124C>T	CCDS56538.1	.	.	.	.	.	.	.	.	.	.	G	19.50	3.838604	0.71373	.	.	ENSG00000205268	ENST00000401827;ENST00000396642	T;T	0.78595	-1.19;-1.19	4.12	3.22	0.36961	.	.	.	.	.	T	0.71195	0.3311	L	0.44542	1.39	0.34284	D	0.682495	D;D	0.59767	0.986;0.975	B;B	0.43809	0.432;0.165	T	0.78173	-0.2307	9	0.72032	D	0.01	.	11.1126	0.48241	0.0:0.0:0.664:0.336	.	42;42	Q13946-3;Q13946	.;PDE7A_HUMAN	W	42	ENSP00000385632:R42W;ENSP00000379881:R42W	ENSP00000379881:R42W	R	-	1	2	PDE7A	66916174	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	2.552000	0.45828	0.689000	0.31550	0.557000	0.71058	CGG		0.657	PDE7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378905.1			17	32	0	0	0	0.043863	0	17	32					A	66753620	G	A	66753620	3	1	169	1	0	0	0	0	1	0	0	0	11651	1115	39	2	1472	2	PDE7A	8	66753620	Missense_Mutation	SNP	G	TCGA-G9-6369-01A-21D-1961-08	64909015	66753620	79610402	21	8077											
ZFPM2	23414	broad.mit.edu	37	chr8	106813420	106813420	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cgatgtaatcactgccatttCggcttccagactcagaggga	10	10	10	11	2	2	2	2	0	0	2	4	4	3	3	2	2	1	2	2	2	1	3			TCGA-G9-6369-01A-21D-1961-08	TCGA-G9-6369-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	954243c2-9440-4e7f-950d-ab48dfe1b570	46642782-ebe5-4fd1-8991-d0ee682f5ab5	g.chr8:106813420C>T	ENST00000407775.2	+	8	1360	c.1110C>T	c.(1108-1110)ttC>ttT	p.F370F	RP11-152P17.2_ENST00000518932.1_RNA|ZFPM2_ENST00000517361.1_Silent_p.F238F|RP11-152P17.2_ENST00000521622.1_RNA|RP11-152P17.2_ENST00000520433.1_RNA|RP11-152P17.2_ENST00000524045.2_RNA|ZFPM2_ENST00000522296.1_3'UTR|ZFPM2_ENST00000378472.4_Silent_p.F101F|RP11-152P17.2_ENST00000509144.2_RNA|ZFPM2_ENST00000520492.1_Silent_p.F238F|RP11-152P17.2_ENST00000520594.1_RNA	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	zinc finger protein, FOG family member 2	370					blood coagulation (GO:0007596)|embryonic organ development (GO:0048568)|gonadal mesoderm development (GO:0007506)|in utero embryonic development (GO:0001701)|lung development (GO:0030324)|negative regulation of cell death (GO:0060548)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of female gonad development (GO:2000195)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract septum morphogenesis (GO:0003148)|positive regulation of male gonad development (GO:2000020)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|right ventricular cardiac muscle tissue morphogenesis (GO:0003221)|vasculogenesis (GO:0001570)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|nucleic acid binding transcription factor activity (GO:0001071)|RNA polymerase II transcription coactivator activity (GO:0001105)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			ACTGCCATTTCGGCTTCCAGA	0.512																																						ENST00000407775.2																			0				NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99						c.(1108-1110)ttC>ttT		zinc finger protein, FOG family member 2							168	160	163					8																	106813420		2000	4216	6216	SO:0001819	synonymous_variant	23414				blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding	g.chr8:106813420C>T	AF119334	CCDS47908.1	8q23	2013-01-10	2012-11-27		ENSG00000169946	ENSG00000169946		"Zinc fingers, C2H2-type", "Zinc fingers, C2HC-type containing"	16700	protein-coding gene	gene with protein product		603693	"zinc finger protein, multitype 2"			9927675, 10438528	Standard	NM_012082		Approved	FOG2, hFOG-2, ZNF89B, ZC2HC11B	uc003ymd.3	Q8WW38	OTTHUMG00000164818	ENST00000407775.2:c.1110C>T	8.37:g.106813420C>T						ZFPM2_ENST00000522296.1_3'UTR|RP11-152P17.2_ENST00000520433.1_RNA|ZFPM2_ENST00000517361.1_Silent_p.F238F|ZFPM2_ENST00000520492.1_Silent_p.F238F|ZFPM2_ENST00000378472.4_Silent_p.F101F|RP11-152P17.2_ENST00000520594.1_RNA|RP11-152P17.2_ENST00000524045.2_RNA|RP11-152P17.2_ENST00000521622.1_RNA|RP11-152P17.2_ENST00000509144.2_RNA|RP11-152P17.2_ENST00000518932.1_RNA	p.F370F	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)		8	1360	+			370					Q32MA6|Q9NPL7|Q9NPS4|Q9UNI5	Silent	SNP	ENST00000407775.2	37	c.1110C>T	CCDS47908.1																																																																																				0.512	ZFPM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380614.1			9	196	0	0	0	0.069234	0	9	196					T	106813420	C	T	106813420	2	4	169	1	0	0	0	0	0	0	0	1	17655	883	31	2		2	ZFPM2	8	106813420	Silent	SNP	C	TCGA-G9-6369-01A-21D-1961-08	40059800	106813420	39550602	22	8078											
UBAP2	55833	broad.mit.edu	37	chr9	33989021	33989021	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tccggttgttgtttccacgtCcacgactcgattctttctcg	4	16	8	13	5	2	0	0	0	2	0	7	2	5	0	3	1	0	3	3	1	0	5			TCGA-G9-6369-01A-21D-1961-08	TCGA-G9-6369-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	954243c2-9440-4e7f-950d-ab48dfe1b570	46642782-ebe5-4fd1-8991-d0ee682f5ab5	g.chr9:33989021C>T	ENST00000379238.1	-	5	509	c.392G>A	c.(391-393)gGa>gAa	p.G131E	UBAP2_ENST00000379239.4_5'UTR|UBAP2_ENST00000418786.2_Missense_Mutation_p.G131E|UBAP2_ENST00000360802.1_Missense_Mutation_p.G131E|UBAP2_ENST00000539807.1_Intron|UBAP2_ENST00000449054.1_Missense_Mutation_p.G131E					ubiquitin associated protein 2											endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(13)|ovary(3)|stomach(1)	32			LUSC - Lung squamous cell carcinoma(29;0.00575)	GBM - Glioblastoma multiforme(74;0.168)		GTTTCCACGTCCACGACTCGA	0.403																																						ENST00000379238.1																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(13)|ovary(3)|stomach(1)	32						c.(391-393)gGa>gAa		ubiquitin associated protein 2							264	241	249					9																	33989021		2203	4300	6503	SO:0001583	missense	55833							g.chr9:33989021C>T	AB040924	CCDS6547.1, CCDS75828.1	9p11.2	2008-02-05			ENSG00000137073	ENSG00000137073			14185	protein-coding gene	gene with protein product						8871400	Standard	NM_018449		Approved	KIAA1491, bA176F3.5, FLJ22435	uc003ztq.1	Q5T6F2	OTTHUMG00000000427	ENST00000379238.1:c.392G>A	9.37:g.33989021C>T	ENSP00000368540:p.Gly131Glu					UBAP2_ENST00000360802.1_Missense_Mutation_p.G131E|UBAP2_ENST00000449054.1_Missense_Mutation_p.G131E|UBAP2_ENST00000418786.2_Missense_Mutation_p.G131E|UBAP2_ENST00000379239.4_5'UTR|UBAP2_ENST00000539807.1_Intron	p.G131E			Q5T6F2	UBAP2_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.00575)	GBM - Glioblastoma multiforme(74;0.168)	5	509	-			131						Missense_Mutation	SNP	ENST00000379238.1	37	c.392G>A	CCDS6547.1	.	.	.	.	.	.	.	.	.	.	C	12.33	1.905483	0.33628	.	.	ENSG00000137073	ENST00000379238;ENST00000449054;ENST00000360802;ENST00000431417;ENST00000379260;ENST00000418786;ENST00000412543;ENST00000421278	T;T;T;T;T	0.26957	1.7;1.7;1.7;1.7;1.7	5.17	1.94	0.25998	.	0.102806	0.64402	D	0.000003	T	0.45438	0.1342	M	0.78049	2.395	0.80722	D	1	D;D;D;D;D	0.89917	0.992;1.0;0.992;1.0;1.0	D;D;P;D;D	0.81914	0.925;0.995;0.859;0.988;0.992	T	0.44877	-0.9299	10	0.14656	T	0.56	-2.3973	11.9939	0.53189	0.2513:0.639:0.1097:0.0	.	131;56;93;56;131	E7EWG4;F5H4D5;F5H2C8;B4DH66;Q5T6F2	.;.;.;.;UBAP2_HUMAN	E	131;131;131;93;71;131;131;7	ENSP00000368540:G131E;ENSP00000416932:G131E;ENSP00000354039:G131E;ENSP00000404436:G131E;ENSP00000414800:G131E	ENSP00000354039:G131E	G	-	2	0	UBAP2	33979021	1.000000	0.71417	0.962000	0.40283	0.017000	0.09413	2.715000	0.47210	0.571000	0.29365	-0.885000	0.02943	GGA		0.403	UBAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001071.1	NM_018449		6	183	0	0	0	0.02938	0	6	183					T	33989021	C	T	33989021	3	4	169	1	0	0	0	0	1	0	0	0	16834	855	30	3	3067	3	UBAP2	9	33989021	Missense_Mutation	SNP	C	TCGA-G9-6369-01A-21D-1961-08		33989021	107224410	23	8079											
APBA1	320	broad.mit.edu	37	chr9	72131395	72131395	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctcggggctgtcggactcGccgtcggagcgctcgtcgta	3	10	15	13	8	1	0	0	0	1	0	7	2	1	2	1	4	1	3	1	4	1	2	rs201766437		TCGA-G9-6369-01A-21D-1961-08	TCGA-G9-6369-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	954243c2-9440-4e7f-950d-ab48dfe1b570	46642782-ebe5-4fd1-8991-d0ee682f5ab5	g.chr9:72131395G>A	ENST00000265381.4	-	2	954	c.732C>T	c.(730-732)ggC>ggT	p.G244G		NM_001163.3	NP_001154.2	Q02410	APBA1_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 1	244	Munc-18-1 binding.				axon cargo transport (GO:0008088)|cell adhesion (GO:0007155)|gamma-aminobutyric acid secretion (GO:0014051)|glutamate secretion (GO:0014047)|in utero embryonic development (GO:0001701)|intracellular protein transport (GO:0006886)|locomotory behavior (GO:0007626)|multicellular organism growth (GO:0035264)|nervous system development (GO:0007399)|protein complex assembly (GO:0006461)|regulation of gene expression (GO:0010468)|synaptic transmission (GO:0007268)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|synaptic vesicle (GO:0008021)	beta-amyloid binding (GO:0001540)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			endometrium(4)|kidney(2)|large_intestine(12)|lung(13)|prostate(3)|skin(3)	37						TGTCGGACTCGCCGTCGGAGC	0.701																																						ENST00000265381.4																			0				endometrium(4)|kidney(2)|large_intestine(12)|lung(13)|prostate(3)|skin(3)	37						c.(730-732)ggC>ggT		amyloid beta (A4) precursor protein-binding, family A, member 1							26	22	23					9																	72131395		2203	4299	6502	SO:0001819	synonymous_variant	320				axon cargo transport|cell adhesion|intracellular protein transport|nervous system development|protein complex assembly|synaptic transmission	synaptic vesicle		g.chr9:72131395G>A	AF029106	CCDS6630.1	9q13-q21	2008-07-18	2008-07-18		ENSG00000107282	ENSG00000107282			578	protein-coding gene	gene with protein product		602414		MINT1		7678331, 7719031	Standard	NM_001163		Approved	D9S411E, X11	uc004ahh.2	Q02410	OTTHUMG00000019984	ENST00000265381.4:c.732C>T	9.37:g.72131395G>A							p.G244G	NM_001163.3	NP_001154.2	Q02410	APBA1_HUMAN			2	954	-			244			Munc-18-1 binding.		O14914|O60570|Q5VYR8	Silent	SNP	ENST00000265381.4	37	c.732C>T	CCDS6630.1																																																																																				0.701	APBA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052589.2	NM_001163		24	23	0	0	0	0.099896	0	24	23					A	72131395	G	A	72131395	2	1	169	1	0	0	0	0	0	0	0	1	756	1074	38	1		1	APBA1	9	72131395	Silent	SNP	G	TCGA-G9-6369-01A-21D-1961-08	38142374	72131395	69082036	24	8080											
KIAA1529	100499483	broad.mit.edu	37	chr9	100128910	100128910	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgacacctttgaccagtgcGccgagaacattagcaaaaag	14	7	10	10	2	0	3	0	2	0	1	0	4	0	3	3	0	3	1	3	0	4	2	rs147885690		TCGA-G9-6369-01A-21D-1961-08	TCGA-G9-6369-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	954243c2-9440-4e7f-950d-ab48dfe1b570	46642782-ebe5-4fd1-8991-d0ee682f5ab5	g.chr9:100128910G>A	ENST00000357054.1	+	43	5019	c.4084G>A	c.(4084-4086)Gcc>Acc	p.A1362T	CCDC180_ENST00000529487.1_Missense_Mutation_p.A1417T|MIR1302-8_ENST00000408342.1_RNA|CCDC180_ENST00000375202.2_Missense_Mutation_p.A1417T|CCDC180_ENST00000395220.1_3'UTR|RP11-23J9.4_ENST00000534123.1_RNA			Q9P1Z9	CC180_HUMAN	coiled-coil domain containing 180	1362						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)											TGACCAGTGCGCCGAGAACAT	0.532																																						ENST00000375202.2																			0											c.(4249-4251)Gcc>Acc		coiled-coil domain containing 180		G	THR/ALA	0,4406		0,0,2203	106	89	95		4249	4.1	0.1	9	dbSNP_134	95	1,8599	1.2+/-3.3	0,1,4299	no	missense	C9orf174	NM_020893.2	58	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	1417/1702	100128910	1,13005	2203	4300	6503	SO:0001583	missense	100499483							g.chr9:100128910G>A	AK123391	CCDS35077.1, CCDS35077.2	9q22.33	2013-03-08	2013-03-08	2013-03-08		ENSG00000197816			29303	protein-coding gene	gene with protein product	"Behcet's Disease Associated Gene 1"		"KIAA1529", "chromosome 9 open reading frame 174"	KIAA1529, C9orf174		10819331	Standard	NM_020893		Approved	DKFZp434I2420, BDAG1	uc004axg.2	Q9P1Z9	OTTHUMG00000167001	ENST00000357054.1:c.4084G>A	9.37:g.100128910G>A	ENSP00000349562:p.Ala1362Thr					CCDC180_ENST00000529487.1_Missense_Mutation_p.A1417T|RP11-23J9.4_ENST00000534123.1_RNA|CCDC180_ENST00000357054.1_Missense_Mutation_p.A1362T|CCDC180_ENST00000395220.1_3'UTR	p.A1417T							45	5601	+								Q2KHR6|Q5VV25|Q68DP5|Q69YV9|Q6AHY0	Missense_Mutation	SNP	ENST00000357054.1	37	c.4249G>A		.	.	.	.	.	.	.	.	.	.	G	14.39	2.520396	0.44866	0.0	1.16E-4	ENSG00000197816	ENST00000357054;ENST00000375202;ENST00000529487	T;T;T	0.52983	0.64;0.64;0.64	5.05	4.13	0.48395	.	0.236919	0.29444	N	0.012126	T	0.65015	0.2651	M	0.74258	2.255	0.26693	N	0.971318	D;D	0.76494	0.995;0.999	P;D	0.69142	0.887;0.962	T	0.59632	-0.7418	10	0.72032	D	0.01	-3.7338	10.9204	0.47161	0.0:0.0:0.8122:0.1878	.	1556;1362	B7ZMG3;Q9P1Z9	.;CI174_HUMAN	T	1362;1417;1417	ENSP00000349562:A1362T;ENSP00000364348:A1417T;ENSP00000434727:A1417T	ENSP00000349562:A1362T	A	+	1	0	C9orf174	99168731	0.114000	0.22134	0.082000	0.20525	0.072000	0.16883	1.151000	0.31651	1.212000	0.43366	0.561000	0.74099	GCC		0.532	CCDC180-201	KNOWN	basic	protein_coding	protein_coding		NM_020893		4	46	0	0	0	0.014758	0	4	46					A	100128910	G	A	100128910	3	1	169	1	0	0	0	0	1	0	0	0	8240	1087	38	1	4210	1	KIAA1529	9	100128910	Missense_Mutation	SNP	G	TCGA-G9-6369-01A-21D-1961-08	27997515	100128910	41084521	25	8081											
KIN	22944	broad.mit.edu	37	chr10	7808017	7808017	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	actccaactgaatacttacaGgctgtagccagtagtctgtt	11	12	8	10	0	1	1	0	1	1	0	2	1	2	1	2	1	4	4	2	1	6	5			TCGA-G9-6369-01A-21D-1961-08	TCGA-G9-6369-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	954243c2-9440-4e7f-950d-ab48dfe1b570	46642782-ebe5-4fd1-8991-d0ee682f5ab5	g.chr10:7808017G>T	ENST00000379562.4	-	9	895	c.848C>A	c.(847-849)cCt>cAt	p.P283H	KIN_ENST00000535925.1_Splice_Site_p.P283H|KIN_ENST00000463666.1_5'UTR|KIN_ENST00000543003.1_Splice_Site_p.P177H	NM_012311.3	NP_036443.1			Kin17 DNA and RNA binding protein											endometrium(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|pancreas(1)|skin(2)	19						AATACTTACAGGCTGTAGCCA	0.328																																						ENST00000379562.3																			0				endometrium(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|pancreas(1)|skin(2)	19						c.e9+1		KIN, antigenic determinant of recA protein homolog (mouse)							89	84	86					10																	7808017		2203	4298	6501	SO:0001630	splice_region_variant	22944				DNA recombination|DNA repair|DNA replication|interspecies interaction between organisms|mRNA processing	cytoplasm|nuclear matrix	double-stranded DNA binding|RNA binding|zinc ion binding	g.chr10:7808017G>T	AJ005273	CCDS7080.1	10p15-p14	2014-07-15	2014-07-15		ENSG00000151657	ENSG00000151657			6327	protein-coding gene	gene with protein product		601720	"antigenic determinant of recA protein (mouse) homolog", "KIN, antigenic determinant of recA protein homolog (mouse)"			1923796, 24140279	Standard	NM_012311		Approved	KIN17, Rts2	uc001ijt.3	O60870	OTTHUMG00000017634	ENST00000379562.4:c.849+1C>A	10.37:g.7808017G>T						KIN_ENST00000463666.1_5'UTR|KIN_ENST00000535925.1_Splice_Site_p.P283_splice|KIN_ENST00000543003.1_Splice_Site_p.P177_splice	p.P283_splice			O60870	KIN17_HUMAN			9	895	-			283						Splice_Site	SNP	ENST00000379562.4	37	c.849_splice	CCDS7080.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.047121	0.75846	.	.	ENSG00000151657	ENST00000535925;ENST00000379562;ENST00000543003	.	.	.	6.06	6.06	0.98353	.	0.105878	0.64402	D	0.000003	T	0.77665	0.4164	M	0.68317	2.08	0.80722	D	1	D;D;D	0.89917	1.0;0.994;0.994	D;P;P	0.65573	0.936;0.712;0.712	T	0.77542	-0.2549	9	0.62326	D	0.03	-25.961	18.3939	0.90492	0.0:0.0:1.0:0.0	.	177;283;283	F5GXB3;B4DX32;O60870	.;.;KIN17_HUMAN	H	283;283;177	.	ENSP00000368881:P283H	P	-	2	0	KIN	7848023	1.000000	0.71417	0.994000	0.49952	0.645000	0.38454	6.428000	0.73383	2.882000	0.98803	0.655000	0.94253	CCT		0.328	KIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046683.2	NM_012311	Missense_Mutation	11	42	1	0	6.42651e-13	0.080935	8.89825e-13	11	42					T	7808017	G	T	7808017	5	4	169	1	0	0	0	0	0	0	1	0	8315	1014	35	5	353	5	KIN	10	7808017	Splice_Site	SNP	G	TCGA-G9-6369-01A-21D-1961-08		7808017	127726730	26	8082											
WAPAL	23063	broad.mit.edu	37	chr10	88232463	88232463	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttatcactttggatggtggtGcaggagccttaaaaactcca	11	12	10	8	0	1	0	1	0	0	0	2	2	2	2	2	4	3	1	2	4	4	3			TCGA-G9-6369-01A-21D-1961-08	TCGA-G9-6369-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	954243c2-9440-4e7f-950d-ab48dfe1b570	46642782-ebe5-4fd1-8991-d0ee682f5ab5	g.chr10:88232463G>A	ENST00000298767.5	-	6	2271	c.1799C>T	c.(1798-1800)gCa>gTa	p.A600V	WAPAL_ENST00000263070.7_5'Flank	NM_015045.2	NP_055860.1	Q7Z5K2	WAPL_HUMAN	wings apart-like homolog (Drosophila)	600	Mediates interaction with the cohesin complex.				mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of chromatin binding (GO:0035562)|negative regulation of DNA replication (GO:0008156)|negative regulation of sister chromatid cohesion (GO:0045875)|positive regulation of fibroblast proliferation (GO:0048146)|protein localization to chromatin (GO:0071168)|regulation of chromosome condensation (GO:0060623)|regulation of cohesin localization to chromatin (GO:0071922)|response to toxic substance (GO:0009636)|viral process (GO:0016032)	chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cohesin complex (GO:0008278)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|microtubule cytoskeleton (GO:0015630)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)				breast(2)|endometrium(2)|kidney(5)|large_intestine(6)|lung(13)|ovary(2)|stomach(1)	31						GGATGGTGGTGCAGGAGCCTT	0.358																																						ENST00000298767.5																			0				breast(2)|endometrium(2)|kidney(5)|large_intestine(6)|lung(13)|ovary(2)|stomach(1)	31						c.(1798-1800)gCa>gTa		wings apart-like homolog (Drosophila)							127	113	118					10																	88232463		2203	4300	6503	SO:0001583	missense	23063				cell division|interspecies interaction between organisms|mitosis|negative regulation of chromatin binding|negative regulation of DNA replication|negative regulation of sister chromatid cohesion|protein localization to chromatin|regulation of cohesin localization to chromatin	chromatin|cohesin complex|cytoplasm	protein binding	g.chr10:88232463G>A	AB065003	CCDS7375.1	10q23.31	2006-12-08	2006-03-16	2006-03-16	ENSG00000062650	ENSG00000062650			23293	protein-coding gene	gene with protein product	"friend of EBNA2"	610754	"KIAA0261"	KIAA0261		9039502, 17112726	Standard	XM_006717726		Approved	FOE, WAPL	uc001kdo.3	Q7Z5K2	OTTHUMG00000018651	ENST00000298767.5:c.1799C>T	10.37:g.88232463G>A	ENSP00000298767:p.Ala600Val						p.A600V	NM_015045.2	NP_055860.1	Q7Z5K2	WAPL_HUMAN			6	2271	-			600			Mediates interaction with the cohesin complex.		A7E2B5|Q5VSK5|Q8IX10|Q92549	Missense_Mutation	SNP	ENST00000298767.5	37	c.1799C>T	CCDS7375.1	.	.	.	.	.	.	.	.	.	.	G	16.79	3.220046	0.58560	.	.	ENSG00000062650	ENST00000342368;ENST00000298767;ENST00000372076	T	0.47528	0.84	5.58	5.58	0.84498	.	0.067390	0.64402	D	0.000011	T	0.59609	0.2206	L	0.43152	1.355	0.80722	D	1	D;D;D	0.69078	0.97;0.97;0.997	P;P;D	0.66196	0.681;0.681;0.942	T	0.49351	-0.8949	10	0.15952	T	0.53	.	19.5757	0.95441	0.0:0.0:1.0:0.0	.	594;600;637	B2RTX8;Q7Z5K2;Q7Z5K2-2	.;WAPL_HUMAN;.	V	685;600;685	ENSP00000298767:A600V	ENSP00000298767:A600V	A	-	2	0	WAPAL	88222443	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	6.423000	0.73361	2.612000	0.88384	0.563000	0.77884	GCA		0.358	WAPAL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049151.2	NM_015045		36	28	0	0	0	0.080422	0	36	28					A	88232463	G	A	88232463	3	1	169	1	0	0	0	0	1	0	0	0	17245	1319	46	3	1829	3	WAPAL	10	88232463	Missense_Mutation	SNP	G	TCGA-G9-6369-01A-21D-1961-08	80424446	88232463	47302284	27	8083											
CC2D2B	387707	broad.mit.edu	37	chr10	97779073	97779076	+	Frame_Shift_Del	DEL	TTGT	TTGT	-																															tgtcccttaaaaagtgtagaTtgtttgtttgatgatagaaa																								rs373856927		TCGA-G9-6369-01A-21D-1961-08	TCGA-G9-6369-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	954243c2-9440-4e7f-950d-ab48dfe1b570	46642782-ebe5-4fd1-8991-d0ee682f5ab5	g.chr10:97779073_97779076delTTGT	ENST00000344386.3	+	7	800_803	c.636_639delTTGT	c.(634-639)gattgtfs	p.DC212fs	RP11-690P14.4_ENST00000475252.2_Intron|ENTPD1-AS1_ENST00000458228.1_RNA|ENTPD1-AS1_ENST00000451364.1_RNA|CC2D2B_ENST00000410012.2_Frame_Shift_Del_p.DC212fs|ENTPD1-AS1_ENST00000416301.1_RNA|CC2D2B_ENST00000371198.2_Intron|ENTPD1-AS1_ENST00000454638.1_RNA|ENTPD1-AS1_ENST00000452728.1_RNA|ENTPD1-AS1_ENST00000449197.1_RNA	NM_001001732.3	NP_001001732.2	Q6DHV5	C2D2B_HUMAN	coiled-coil and C2 domain containing 2B	212										large_intestine(1)|lung(7)|ovary(1)|urinary_tract(1)	10		Colorectal(252;0.158)		Epithelial(162;7.08e-08)|all cancers(201;2.71e-06)		AAAGTGTAGATTGTTTGTTTGATG	0.363																																						ENST00000344386.3																			0				large_intestine(1)|lung(7)|ovary(1)|urinary_tract(1)	10						c.(634-639)gafs		coiled-coil and C2 domain containing 2B																																				SO:0001589	frameshift_variant	387707							g.chr10:97779073_97779076delTTGT	BC075861	CCDS41555.1, CCDS53560.1	10q23.33	2008-11-06	2007-10-19	2007-10-19	ENSG00000188649	ENSG00000188649			31666	protein-coding gene	gene with protein product			"chromosome 10 open reading frame 130"	C10orf130			Standard	NM_001001732		Approved	bA248J23.4	uc010qop.2	Q6DHV5	OTTHUMG00000018820	ENST00000344386.3:c.636_639delTTGT	10.37:g.97779077_97779080delTTGT	ENSP00000343747:p.Asp212fs					ENTPD1-AS1_ENST00000451364.1_RNA|RP11-690P14.4_ENST00000475252.2_Intron|ENTPD1-AS1_ENST00000416301.1_RNA|ENTPD1-AS1_ENST00000458228.1_RNA|CC2D2B_ENST00000371198.2_Intron|CC2D2B_ENST00000410012.2_Frame_Shift_Del_p.DC212fs|ENTPD1-AS1_ENST00000454638.1_RNA|ENTPD1-AS1_ENST00000452728.1_RNA	p.DC212fs	NM_001001732.3	NP_001001732.2	Q6DHV5	C2D2B_HUMAN		Epithelial(162;7.08e-08)|all cancers(201;2.71e-06)	7	800_803	+		Colorectal(252;0.158)	212					A2A3E9|B4DYD4|E9PCC3|Q5VUS0	Frame_Shift_Del	DEL	ENST00000344386.3	37	c.636_639delTTGT	CCDS41555.1																																																																																				0.363	CC2D2B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000049573.3	NM_001001732		9	130						9	130	---	---	---	---	-	97779076	TTGT	-	97779073	7	5	169	1	0	1	0	1	0	0	0	0	2729	1490	52	0	658	0	CC2D2B	10	97779073	Frame_Shift_Del	DEL	TTGT	TCGA-G9-6369-01A-21D-1961-08	9546610	97779073	37755674	28	8084											
LRP4	4038	broad.mit.edu	37	chr11	46889635	46889635	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttttcactcatgccagtaGccctaggagctggtggtacc	7	12	10	12	0	3	0	2	0	1	0	3	1	3	1	3	3	4	3	3	3	3	5			TCGA-G9-6369-01A-21D-1961-08	TCGA-G9-6369-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	954243c2-9440-4e7f-950d-ab48dfe1b570	46642782-ebe5-4fd1-8991-d0ee682f5ab5	g.chr11:46889635G>C	ENST00000378623.1	-	34	5224	c.4982C>G	c.(4981-4983)gCt>gGt	p.A1661G	LRP4-AS1_ENST00000531719.1_RNA|LRP4-AS1_ENST00000502049.2_RNA	NM_002334.3	NP_002325.2	O75096	LRP4_HUMAN	low density lipoprotein receptor-related protein 4	1661					dendrite morphogenesis (GO:0048813)|dorsal/ventral pattern formation (GO:0009953)|embryonic digit morphogenesis (GO:0042733)|endocytosis (GO:0006897)|extracellular matrix organization (GO:0030198)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|limb development (GO:0060173)|negative regulation of axonogenesis (GO:0050771)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of ossification (GO:0030279)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of presynaptic membrane organization (GO:1901631)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|protein heterotetramerization (GO:0051290)|proximal/distal pattern formation (GO:0009954)|regulation of protein phosphorylation (GO:0001932)|skeletal muscle acetylcholine-gated channel clustering (GO:0071340)|synapse organization (GO:0050808)|synaptic growth at neuromuscular junction (GO:0051124)|Wnt signaling pathway (GO:0016055)	cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|postsynaptic density (GO:0014069)|synaptic membrane (GO:0097060)	calcium ion binding (GO:0005509)|receptor tyrosine kinase binding (GO:0030971)|scaffold protein binding (GO:0097110)			breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70				Lung(87;0.159)		CATGCCAGTAGCCCTAGGAGC	0.537																																						ENST00000378623.1																			0				breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70						c.(4981-4983)gCt>gGt		low density lipoprotein receptor-related protein 4							133	111	118					11																	46889635		2201	4299	6500	SO:0001583	missense	4038				endocytosis|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to membrane	calcium ion binding|receptor activity	g.chr11:46889635G>C	AB011540	CCDS31478.1	11p11.2	2013-05-29			ENSG00000134569	ENSG00000134569		"Low density lipoprotein receptors"	6696	protein-coding gene	gene with protein product		604270				9693030	Standard	NM_002334		Approved	MEGF7, CLSS, LRP-4, SOST2	uc001ndn.4	O75096	OTTHUMG00000166700	ENST00000378623.1:c.4982C>G	11.37:g.46889635G>C	ENSP00000367888:p.Ala1661Gly					LRP4-AS1_ENST00000531719.1_RNA|LRP4-AS1_ENST00000502049.2_RNA	p.A1661G	NM_002334.3	NP_002325.2	O75096	LRP4_HUMAN		Lung(87;0.159)	34	5224	-			1661					B2RN39|Q4AC85|Q5KTZ5	Missense_Mutation	SNP	ENST00000378623.1	37	c.4982C>G	CCDS31478.1	.	.	.	.	.	.	.	.	.	.	.	8.565	0.878732	0.17395	.	.	ENSG00000134569	ENST00000378623	D	0.90133	-2.62	5.95	3.12	0.35913	.	0.649424	0.15653	N	0.251294	T	0.78419	0.4280	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.62955	-0.6744	10	0.22706	T	0.39	.	8.8344	0.35104	0.2968:0.0:0.7032:0.0	.	1661	O75096	LRP4_HUMAN	G	1661	ENSP00000367888:A1661G	ENSP00000367888:A1661G	A	-	2	0	LRP4	46846211	0.843000	0.29541	0.975000	0.42487	0.133000	0.20885	1.860000	0.39428	0.433000	0.26313	0.655000	0.94253	GCT		0.537	LRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391133.1	NM_002334		4	85	0	0	0	0.009096	0	4	85					C	46889635	G	C	46889635	3	2	169	1	0	0	0	0	1	0	0	0	8959	971	34	5	755	5	LRP4	11	46889635	Missense_Mutation	SNP	G	TCGA-G9-6369-01A-21D-1961-08		46889635	88116881	29	8085											
FAT3	120114	broad.mit.edu	37	chr11	92533470	92533470	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctgattttgaccggttggaaTatagcattttatctgggaat	10	16	10	5	1	1	2	0	2	1	0	1	4	1	4	1	3	1	2	1	3	5	7			TCGA-G9-6369-01A-21D-1961-08	TCGA-G9-6369-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	954243c2-9440-4e7f-950d-ab48dfe1b570	46642782-ebe5-4fd1-8991-d0ee682f5ab5	g.chr11:92533470T>C	ENST00000298047.6	+	9	7308	c.7291T>C	c.(7291-7293)Tat>Cat	p.Y2431H	FAT3_ENST00000409404.2_Missense_Mutation_p.Y2431H|FAT3_ENST00000525166.1_Missense_Mutation_p.Y2281H			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	2431	Cadherin 22. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				CCGGTTGGAATATAGCATTTT	0.478										TCGA Ovarian(4;0.039)																												ENST00000298047.6																			0				NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85						c.(7291-7293)Tat>Cat		FAT atypical cadherin 3							82	80	80					11																	92533470		1889	4119	6008	SO:0001583	missense	120114				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr11:92533470T>C	AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"Cadherins / Cadherin-related"	23112	protein-coding gene	gene with protein product	"cadherin-related family member 10"	612483	"FAT tumor suppressor homolog 3 (Drosophila)"			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.7291T>C	11.37:g.92533470T>C	ENSP00000298047:p.Tyr2431His	TCGA Ovarian(4;0.039)				FAT3_ENST00000409404.2_Missense_Mutation_p.Y2431H|FAT3_ENST00000525166.1_Missense_Mutation_p.Y2281H	p.Y2431H			Q8TDW7	FAT3_HUMAN			9	7308	+		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)	2431			Cadherin 22.		B5MDB0|Q96AU6	Missense_Mutation	SNP	ENST00000298047.6	37	c.7291T>C		.	.	.	.	.	.	.	.	.	.	T	17.64	3.440099	0.63067	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000525166	T;T;T	0.62941	-0.01;-0.01;-0.01	5.82	5.82	0.92795	.	.	.	.	.	D	0.88672	0.6500	H	0.99464	4.58	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.93577	0.6909	9	0.87932	D	0	.	16.1778	0.81874	0.0:0.0:0.0:1.0	.	2431	Q8TDW7-3	.	H	2431;2431;2281	ENSP00000298047:Y2431H;ENSP00000387040:Y2431H;ENSP00000432586:Y2281H	ENSP00000298047:Y2431H	Y	+	1	0	FAT3	92173118	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	7.975000	0.88055	2.225000	0.72522	0.459000	0.35465	TAT		0.478	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781		45	60	0	0	0	0.048971	0	45	60					C	92533470	T	C	92533470	3	2	169	1	0	0	0	0	1	0	0	0	5691	1406	49	4	7325	4	FAT3	11	92533470	Missense_Mutation	SNP	T	TCGA-G9-6369-01A-21D-1961-08	45643835	92533470	42473046	30	8086											
DIP2B	57609	broad.mit.edu	37	chr12	51138473	51138473	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tagtgaccaacgtggtcctgGaagagcattacctcatcgtt	10	11	10	10	2	1	2	1	1	0	1	3	3	2	3	3	2	3	2	3	2	4	3			TCGA-G9-6369-01A-21D-1961-08	TCGA-G9-6369-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	954243c2-9440-4e7f-950d-ab48dfe1b570	46642782-ebe5-4fd1-8991-d0ee682f5ab5	g.chr12:51138473G>T	ENST00000301180.5	+	38	4616	c.4582G>T	c.(4582-4584)Gaa>Taa	p.E1528*	Y_RNA_ENST00000363558.1_RNA	NM_173602.2	NP_775873.2	Q9P265	DIP2B_HUMAN	DIP2 disco-interacting protein 2 homolog B (Drosophila)	1528						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	catalytic activity (GO:0003824)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(15)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	60						CGTGGTCCTGGAAGAGCATTA	0.547																																						ENST00000301180.5																			0				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(15)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	60						c.(4582-4584)Gaa>Taa		DIP2 disco-interacting protein 2 homolog B (Drosophila)							175	133	148					12																	51138473		2203	4300	6503	SO:0001587	stop_gained	57609					nucleus	catalytic activity|transcription factor binding	g.chr12:51138473G>T	AB040896	CCDS31799.1	12q13.12	2012-10-02	2006-01-13		ENSG00000066084	ENSG00000066084			29284	protein-coding gene	gene with protein product		611379					Standard	XM_005269044		Approved	KIAA1463, FLJ34278	uc001rwv.3	Q9P265	OTTHUMG00000169475	ENST00000301180.5:c.4582G>T	12.37:g.51138473G>T	ENSP00000301180:p.Glu1528*						p.E1528*	NM_173602.2	NP_775873.2	Q9P265	DIP2B_HUMAN			38	4616	+			1528					Q6B011|Q8N1L5|Q8NB38	Nonsense_Mutation	SNP	ENST00000301180.5	37	c.4582G>T	CCDS31799.1	.	.	.	.	.	.	.	.	.	.	G	41	9.161580	0.99085	.	.	ENSG00000066084	ENST00000301180	.	.	.	5.65	5.65	0.86999	.	0.047527	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.52906	T	0.07	-24.5734	19.9142	0.97043	0.0:0.0:1.0:0.0	.	.	.	.	X	1528	.	ENSP00000301180:E1528X	E	+	1	0	DIP2B	49424740	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.728000	0.84847	2.941000	0.99782	0.655000	0.94253	GAA		0.547	DIP2B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404243.1	NM_173602		16	55	1	0	6.72482e-11	0.024245	9.13561e-11	16	55					T	51138473	G	T	51138473	4	4	169	1	0	0	0	0	0	1	0	0	4528	1175	41	5	4732	5	DIP2B	12	51138473	Nonsense_Mutation	SNP	G	TCGA-G9-6369-01A-21D-1961-08		51138473	82713422	31	8087											
GLI1	2735	broad.mit.edu	37	chr12	57864192	57864192	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gctctgcctatactgtcagcCgccgctcctccctggcctct	3	11	8	19	2	3	0	1	0	2	0	5	0	5	0	6	1	3	2	6	1	2	2	rs201845227	byFrequency	TCGA-G9-6369-01A-21D-1961-08	TCGA-G9-6369-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	954243c2-9440-4e7f-950d-ab48dfe1b570	46642782-ebe5-4fd1-8991-d0ee682f5ab5	g.chr12:57864192C>T	ENST00000228682.2	+	12	1760	c.1669C>T	c.(1669-1671)Cgc>Tgc	p.R557C	GLI1_ENST00000543426.1_Missense_Mutation_p.R429C|GLI1_ENST00000546141.1_Missense_Mutation_p.R516C	NM_005269.2	NP_005260.1	P08151	GLI1_HUMAN	GLI family zinc finger 1	557					cerebellar cortex morphogenesis (GO:0021696)|digestive tract morphogenesis (GO:0048546)|dorsal/ventral pattern formation (GO:0009953)|epidermal cell differentiation (GO:0009913)|lung development (GO:0030324)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|notochord regression (GO:0060032)|osteoblast differentiation (GO:0001649)|pituitary gland development (GO:0021983)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|proximal/distal pattern formation (GO:0009954)|regulation of smoothened signaling pathway (GO:0008589)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation (GO:0021938)|spermatogenesis (GO:0007283)|ventral midline development (GO:0007418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|primary cilium (GO:0072372)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(8)|lung(22)|ovary(6)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69			GBM - Glioblastoma multiforme(3;3.99e-32)			TACTGTCAGCCGCCGCTCCTC	0.647													C|||	3	0.000599042	0	0	5008	,	,		17880	0.003		0	False		,,,				2504	0				Pancreas(157;841 1936 10503 41495 50368)	ENST00000228682.2																			0				NS(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(8)|lung(22)|ovary(6)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69						c.(1669-1671)Cgc>Tgc		GLI family zinc finger 1																																				SO:0001583	missense	2735				epidermal cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|osteoblast differentiation|positive regulation of DNA replication|positive regulation of smoothened signaling pathway|positive regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	transcription regulatory region DNA binding|zinc ion binding	g.chr12:57864192C>T		CCDS8940.1, CCDS53806.1, CCDS53807.1	12q13.2-q13.3	2013-01-25	2009-03-05	2005-01-14		ENSG00000111087		"Zinc fingers, C2H2-type"	4317	protein-coding gene	gene with protein product		165220	"glioma-associated oncogene homolog 1 (zinc finger protein)", "glioma-associated oncogene family zinc finger 1"	GLI		2850480	Standard	NM_005269		Approved		uc001snx.3	P08151		ENST00000228682.2:c.1669C>T	12.37:g.57864192C>T	ENSP00000228682:p.Arg557Cys					GLI1_ENST00000543426.1_Missense_Mutation_p.R429C|GLI1_ENST00000546141.1_Missense_Mutation_p.R516C	p.R557C	NM_005269.2	NP_005260.1	P08151	GLI1_HUMAN	GBM - Glioblastoma multiforme(3;3.99e-32)		12	1760	+			557					D0EUY3|E9PQQ9|F5H6H8|Q8TDN9	Missense_Mutation	SNP	ENST00000228682.2	37	c.1669C>T	CCDS8940.1	2	9.157509157509158E-4	0	0.0	0	0.0	2	0.0034965034965034965	0	0.0	C	19.74	3.884584	0.72410	.	.	ENSG00000111087	ENST00000543426;ENST00000228682;ENST00000546141;ENST00000528467	T;T;T;T	0.26518	1.85;1.73;1.87;1.87	3.95	3.95	0.45737	.	0.141517	0.33327	N	0.005028	T	0.48822	0.1521	M	0.71581	2.175	0.80722	D	1	D	0.89917	1.0	D	0.66979	0.948	T	0.54820	-0.8236	10	0.87932	D	0	.	15.9719	0.80027	0.0:1.0:0.0:0.0	.	557	P08151	GLI1_HUMAN	C	429;557;516;516	ENSP00000437607:R429C;ENSP00000228682:R557C;ENSP00000441006:R516C;ENSP00000434408:R516C	ENSP00000228682:R557C	R	+	1	0	GLI1	56150459	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.475000	0.66787	2.483000	0.83821	0.561000	0.74099	CGC		0.647	GLI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394197.1	NM_005269		43	74	0	0	0	0.045515	0	43	74					T	57864192	C	T	57864192	3	4	169	1	0	0	0	0	1	0	0	0	6437	652	23	2	1711	2	GLI1	12	57864192	Missense_Mutation	SNP	C	TCGA-G9-6369-01A-21D-1961-08	6725719	57864192	75987703	32	8088											
CDK17	5128	broad.mit.edu	37	chr12	96677410	96677410	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttgttatcaactcaattcCttcagagtctaacctagaaa	13	15	4	9	0	4	2	3	0	1	2	5	2	5	2	2	0	2	1	2	0	6	7			TCGA-G9-6369-01A-21D-1961-08	TCGA-G9-6369-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	954243c2-9440-4e7f-950d-ab48dfe1b570	46642782-ebe5-4fd1-8991-d0ee682f5ab5	g.chr12:96677410C>T	ENST00000261211.3	-	14	1939	c.1336G>A	c.(1336-1338)Gga>Aga	p.G446R	CDK17_ENST00000543119.2_Missense_Mutation_p.G446R|CDK17_ENST00000542666.1_Missense_Mutation_p.G393R	NM_001170464.2|NM_002595.4	NP_001163935.1|NP_002586.2	Q00537	CDK17_HUMAN	cyclin-dependent kinase 17	446	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				protein phosphorylation (GO:0006468)		ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672)			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(6)|lung(11)|ovary(4)|prostate(2)|skin(1)	37						AACTCAATTCCTTCAGAGTCT	0.313																																						ENST00000261211.3																			0				breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(6)|lung(11)|ovary(4)|prostate(2)|skin(1)	37						c.(1336-1338)Gga>Aga		cyclin-dependent kinase 17							87	90	89					12																	96677410		2203	4300	6503	SO:0001583	missense	5128						ATP binding|cyclin-dependent protein kinase activity	g.chr12:96677410C>T		CCDS9061.1, CCDS53819.1	12q23.1	2011-11-08	2009-12-16	2009-12-16		ENSG00000059758		"Cyclin-dependent kinases"	8750	protein-coding gene	gene with protein product		603440	"PCTAIRE protein kinase 2"	PCTK2		9370357, 19884882	Standard	NM_001170464		Approved	PCTAIRE2	uc009ztk.3	Q00537		ENST00000261211.3:c.1336G>A	12.37:g.96677410C>T	ENSP00000261211:p.Gly446Arg					CDK17_ENST00000542666.1_Missense_Mutation_p.G393R|CDK17_ENST00000543119.2_Missense_Mutation_p.G446R	p.G446R	NM_001170464.2|NM_002595.4	NP_001163935.1|NP_002586.2	Q00537	CDK17_HUMAN			14	1939	-			446			Protein kinase.		A8K1U6|B2RCQ2|Q8NEB8	Missense_Mutation	SNP	ENST00000261211.3	37	c.1336G>A	CCDS9061.1	.	.	.	.	.	.	.	.	.	.	C	29.3	4.994754	0.93167	.	.	ENSG00000059758	ENST00000261211;ENST00000543119;ENST00000542666	T;T;T	0.66280	-0.2;-0.2;-0.2	5.77	5.77	0.91146	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.85057	0.5610	M	0.92317	3.295	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.87855	0.2660	10	0.87932	D	0	-17.7674	19.9913	0.97366	0.0:1.0:0.0:0.0	.	446;446	A8K1U6;Q00537	.;CDK17_HUMAN	R	446;446;393	ENSP00000261211:G446R;ENSP00000444459:G446R;ENSP00000442926:G393R	ENSP00000261211:G446R	G	-	1	0	CDK17	95201541	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.811000	0.75221	2.734000	0.93682	0.585000	0.79938	GGA		0.313	CDK17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408751.1	NM_002595		6	95	0	0	0	0.021553	0	6	95					T	96677410	C	T	96677410	3	4	169	1	0	0	0	0	1	0	0	0	3133	690	24	3	289	3	CDK17	12	96677410	Missense_Mutation	SNP	C	TCGA-G9-6369-01A-21D-1961-08	38813218	96677410	37174485	33	8089											
DGKH	160851	broad.mit.edu	37	chr13	42742922	42742922	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cttcctcagatcctagagaaActggaacgagccagtaccaa	14	7	8	12	1	1	2	1	0	0	2	3	5	3	3	4	1	4	1	4	1	5	3	rs202090141	byFrequency	TCGA-G9-6369-01A-21D-1961-08	TCGA-G9-6369-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	954243c2-9440-4e7f-950d-ab48dfe1b570	46642782-ebe5-4fd1-8991-d0ee682f5ab5	g.chr13:42742922A>G	ENST00000337343.4	+	11	1356	c.1335A>G	c.(1333-1335)aaA>aaG	p.K445K	DGKH_ENST00000379274.2_Silent_p.K309K|DGKH_ENST00000261491.5_Silent_p.K445K|DGKH_ENST00000536612.1_Silent_p.K309K|DGKH_ENST00000540693.1_Silent_p.K445K|DGKH_ENST00000498255.2_3'UTR|DGKH_ENST00000538674.1_Silent_p.K200K	NM_178009.3	NP_821077.1	Q86XP1	DGKH_HUMAN	diacylglycerol kinase, eta	445	DAGKc. {ECO:0000255|PROSITE- ProRule:PRU00783}.				blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein oligomerization (GO:0051259)	cytoplasm (GO:0005737)|endosome (GO:0005768)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)			breast(2)|endometrium(3)|kidney(5)|large_intestine(11)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43		Lung NSC(96;1.02e-05)|Prostate(109;0.0168)|Lung SC(185;0.0262)|Breast(139;0.0709)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;5.88e-05)|GBM - Glioblastoma multiforme(144;0.000935)|BRCA - Breast invasive adenocarcinoma(63;0.109)		TCCTAGAGAAACTGGAACGAG	0.423													A|||	2	0.000399361	0	0	5008	,	,		13652	0.002		0	False		,,,				2504	0					ENST00000379274.2																			0				breast(2)|endometrium(3)|kidney(5)|large_intestine(11)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						c.(925-927)aaA>aaG		diacylglycerol kinase, eta							83	88	86					13																	42742922		2203	4300	6503	SO:0001819	synonymous_variant	160851				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation|protein oligomerization	endosome|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding	g.chr13:42742922A>G	AB078967	CCDS9381.1, CCDS9382.1, CCDS55898.1	13q13.3	2013-01-10			ENSG00000102780	ENSG00000102780		"Sterile alpha motif (SAM) domain containing", "Pleckstrin homology (PH) domain containing"	2854	protein-coding gene	gene with protein product		604071				8702685	Standard	XM_005266271		Approved	DGKeta	uc001uyl.2	Q86XP1	OTTHUMG00000016804	ENST00000337343.4:c.1335A>G	13.37:g.42742922A>G						DGKH_ENST00000498255.2_3'UTR|DGKH_ENST00000538674.1_Silent_p.K200K|DGKH_ENST00000337343.4_Silent_p.K445K|DGKH_ENST00000536612.1_Silent_p.K309K|DGKH_ENST00000540693.1_Silent_p.K445K|DGKH_ENST00000261491.4_Silent_p.K445K	p.K309K			Q86XP1	DGKH_HUMAN		OV - Ovarian serous cystadenocarcinoma(117;5.88e-05)|GBM - Glioblastoma multiforme(144;0.000935)|BRCA - Breast invasive adenocarcinoma(63;0.109)	11	1356	+		Lung NSC(96;1.02e-05)|Prostate(109;0.0168)|Lung SC(185;0.0262)|Breast(139;0.0709)|Hepatocellular(98;0.114)	445					A2A2W7|A6NFX7|B4DZ34|Q5VZW0|Q6PI56|Q86XP2|Q8N3N0|Q8N7J9	Silent	SNP	ENST00000337343.4	37	c.927A>G	CCDS9381.1																																																																																				0.423	DGKH-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044699.2	NM_178009		37	15	0	0	0	0.074837	0	37	15					G	42742922	A	G	42742922	2	3	169	1	0	0	0	0	0	0	0	1	4470	40	2	4		4	DGKH	13	42742922	Silent	SNP	A	TCGA-G9-6369-01A-21D-1961-08		42742922	72426956	34	8090											
INSM2	84684	broad.mit.edu	37	chr14	36003785	36003785	+	Frame_Shift_Del	DEL	C	C	-																															gggcccagccccagccccagCcccagtccagcgaagccggc																										TCGA-G9-6369-01A-21D-1961-08	TCGA-G9-6369-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	954243c2-9440-4e7f-950d-ab48dfe1b570	46642782-ebe5-4fd1-8991-d0ee682f5ab5	g.chr14:36003785delC	ENST00000307169.3	+	1	538	c.327delC	c.(325-327)agcfs	p.S109fs		NM_032594.3	NP_115983.3	Q96T92	INSM2_HUMAN	insulinoma-associated 2	109					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|urinary_tract(1)	10	Breast(36;0.122)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(9;2.16e-07)|Lung(238;2.63e-07)|Epithelial(34;0.00145)|all cancers(34;0.00452)	GBM - Glioblastoma multiforme(112;0.0223)		ccagccccagccccagtccAG	0.781																																						ENST00000307169.3																			0				endometrium(3)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|urinary_tract(1)	10						c.(325-327)agfs		insulinoma-associated 2							2	2	2					14																	36003785		1057	2608	3665	SO:0001589	frameshift_variant	0				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr14:36003785delC	AF260323	CCDS9657.1	14q13.1	2013-01-08			ENSG00000168348	ENSG00000168348		"Zinc fingers, C2H2-type"	17539	protein-coding gene	gene with protein product	"mlt 1"	614027					Standard	NM_032594		Approved	IA-6	uc001wth.1	Q96T92	OTTHUMG00000140223	ENST00000307169.3:c.327delC	14.37:g.36003785delC	ENSP00000306523:p.Ser109fs						p.S109fs	NM_032594.3	NP_115983.3	Q96T92	INSM2_HUMAN	LUAD - Lung adenocarcinoma(9;2.16e-07)|Lung(238;2.63e-07)|Epithelial(34;0.00145)|all cancers(34;0.00452)	GBM - Glioblastoma multiforme(112;0.0223)	1	538	+	Breast(36;0.122)|Hepatocellular(127;0.158)		109					A1L432|J9Y024|Q8N8K7|Q96Q84	Frame_Shift_Del	DEL	ENST00000307169.3	37	c.327delC	CCDS9657.1																																																																																				0.781	INSM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276686.1			3	5						3	5	---	---	---	---	-	36003785	C	-	36003785	7	5	169	1	0	1	0	1	0	0	0	0	7772	738	26	0	329	0	INSM2	14	36003785	Frame_Shift_Del	DEL	C	TCGA-G9-6369-01A-21D-1961-08		36003785	71345755	35	8091											
KIAA0831	22863	broad.mit.edu	37	chr14	55848836	55848836	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgagaggtaagttgtcctccGggcttcagcaagcttgctca	8	11	12	10	1	2	1	2	1	0	1	4	2	4	1	2	2	3	6	2	2	2	4			TCGA-G9-6369-01A-21D-1961-08	TCGA-G9-6369-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	954243c2-9440-4e7f-950d-ab48dfe1b570	46642782-ebe5-4fd1-8991-d0ee682f5ab5	g.chr14:55848836G>A	ENST00000247178.5	-	6	756	c.721C>T	c.(721-723)Cgg>Tgg	p.R241W		NM_014924.4	NP_055739.2	Q6ZNE5	BAKOR_HUMAN	autophagy related 14	241					autophagic vacuole assembly (GO:0000045)|endosome to lysosome transport (GO:0008333)|positive regulation of autophagy (GO:0010508)	autophagic vacuole (GO:0005776)|axoneme (GO:0005930)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|phagocytic vesicle (GO:0045335)|pre-autophagosomal structure membrane (GO:0034045)				central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(6)|prostate(2)	13						GTTGTCCTCCGGGCTTCAGCA	0.527																																						ENST00000247178.5																			0				central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(6)|prostate(2)	13						c.(721-723)Cgg>Tgg		autophagy related 14							159	137	145					14																	55848836		2203	4300	6503	SO:0001583	missense	22863				autophagic vacuole assembly|positive regulation of autophagy	autophagic vacuole|endoplasmic reticulum|pre-autophagosomal structure membrane	protein binding	g.chr14:55848836G>A	AB020638	CCDS32087.1	14q22.2	2014-02-12	2012-06-06	2010-06-29	ENSG00000126775	ENSG00000126775			19962	protein-coding gene	gene with protein product	"Barkor", "beclin 1-associated autophagy-related key regulator"	613515	"KIAA0831", "ATG14 autophagy related 14 homolog (S. cerevisiae)"	KIAA0831		18843052	Standard	NM_014924		Approved	ATG14L	uc001xbx.2	Q6ZNE5	OTTHUMG00000172129	ENST00000247178.5:c.721C>T	14.37:g.55848836G>A	ENSP00000247178:p.Arg241Trp						p.R241W	NM_014924.4	NP_055739.2	Q6ZNE5	BAKOR_HUMAN			6	756	-			241					A6NJE4|A8K9U5|B7ZWP5|O94920|Q32MK7|Q32MK8	Missense_Mutation	SNP	ENST00000247178.5	37	c.721C>T	CCDS32087.1	.	.	.	.	.	.	.	.	.	.	g	15.85	2.956329	0.53293	.	.	ENSG00000126775	ENST00000247178	T	0.35048	1.33	5.63	2.38	0.29361	.	0.000000	0.85682	D	0.000000	T	0.33381	0.0861	L	0.46157	1.445	0.58432	D	0.999999	P	0.42556	0.783	B	0.38296	0.27	T	0.41627	-0.9498	10	0.87932	D	0	-18.3862	16.6348	0.85043	0.0:0.0:0.535:0.465	.	241	Q6ZNE5	BAKOR_HUMAN	W	241	ENSP00000247178:R241W	ENSP00000247178:R241W	R	-	1	2	ATG14	54918589	1.000000	0.71417	1.000000	0.80357	0.841000	0.47740	1.811000	0.38942	0.694000	0.31654	0.650000	0.86243	CGG		0.527	ATG14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416992.1	NM_014924		56	62	0	0	0	0.048971	0	56	62					A	55848836	G	A	55848836	3	1	169	1	0	0	0	0	1	0	0	0	8195	1115	39	2	777	2	KIAA0831	14	55848836	Missense_Mutation	SNP	G	TCGA-G9-6369-01A-21D-1961-08	19845051	55848836	51500704	36	8092											
CDC42BPB	9578	broad.mit.edu	37	chr14	103442221	103442221	+	Splice_Site	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gagccggcgctgccctcaccTtgcagcttcctgctcagctc	4	9	10	18	2	2	0	2	0	0	0	4	1	3	0	4	1	6	5	4	1	0	2			TCGA-G9-6369-01A-21D-1961-08	TCGA-G9-6369-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	954243c2-9440-4e7f-950d-ab48dfe1b570	46642782-ebe5-4fd1-8991-d0ee682f5ab5	g.chr14:103442221T>G	ENST00000361246.2	-	10	1674	c.1386A>C	c.(1384-1386)caA>caC	p.Q462H		NM_006035.3	NP_006026.3			CDC42 binding protein kinase beta (DMPK-like)											NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(11)|liver(1)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	49		Melanoma(154;0.155)		Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199)		TGCCCTCACCTTGCAGCTTCC	0.662																																						ENST00000361246.2																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(11)|liver(1)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	49						c.e10+1		CDC42 binding protein kinase beta (DMPK-like)							75	78	77					14																	103442221		2203	4300	6503	SO:0001630	splice_region_variant	9578				actin cytoskeleton reorganization|establishment or maintenance of cell polarity|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm|cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chr14:103442221T>G	AF128625	CCDS9978.1	14q32.32	2010-05-12	2001-11-28		ENSG00000198752	ENSG00000198752			1738	protein-coding gene	gene with protein product		614062	"CDC42-binding protein kinase beta (DMPK-like)"			10198171	Standard	NM_006035		Approved	MRCKB, KIAA1124	uc001ymi.1	Q9Y5S2		ENST00000361246.2:c.1387+1A>C	14.37:g.103442221T>G							p.Q462_splice	NM_006035.3	NP_006026.3	Q9Y5S2	MRCKB_HUMAN		Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199)	10	1674	-		Melanoma(154;0.155)	462						Splice_Site	SNP	ENST00000361246.2	37	c.1387_splice	CCDS9978.1	.	.	.	.	.	.	.	.	.	.	T	22.5	4.296779	0.81025	.	.	ENSG00000198752	ENST00000361246	T	0.66815	-0.23	5.8	0.291	0.15732	.	0.000000	0.85682	D	0.000000	T	0.78336	0.4267	M	0.85373	2.75	0.58432	D	0.999998	D	0.67145	0.996	D	0.63381	0.914	T	0.78336	-0.2243	10	0.87932	D	0	.	9.7656	0.40559	0.0:0.2774:0.0:0.7226	.	462	Q9Y5S2	MRCKB_HUMAN	H	462	ENSP00000355237:Q462H	ENSP00000355237:Q462H	Q	-	3	2	CDC42BPB	102511974	1.000000	0.71417	0.999000	0.59377	0.983000	0.72400	0.963000	0.29293	0.026000	0.15269	0.528000	0.53228	CAA		0.662	CDC42BPB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415711.1	NM_006035	Missense_Mutation	8	128	0	0	0	0.038147	0	8	128					G	103442221	T	G	103442221	5	3	169	1	0	0	0	0	0	0	1	0	3073	1623	56	5	3861	5	CDC42BPB	14	103442221	Splice_Site	SNP	T	TCGA-G9-6369-01A-21D-1961-08	47593385	103442221	3907319	37	8093											
RLBP1	6017	broad.mit.edu	37	chr15	89760395	89760395	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccacgttgaacttccgtgcgCggatgaagcgcaggaagaag	11	6	14	10	5	0	3	0	2	0	1	1	5	1	5	2	2	3	2	2	2	4	2			TCGA-G9-6369-01A-21D-1961-08	TCGA-G9-6369-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	954243c2-9440-4e7f-950d-ab48dfe1b570	46642782-ebe5-4fd1-8991-d0ee682f5ab5	g.chr15:89760395C>T	ENST00000268125.5	-	5	741	c.302G>A	c.(301-303)cGc>cAc	p.R101H		NM_000326.4	NP_000317.1	P12271	RLBP1_HUMAN	retinaldehyde binding protein 1	101					phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|visual perception (GO:0007601)|vitamin A metabolic process (GO:0006776)	cell body (GO:0044297)|cytosol (GO:0005829)	11-cis retinal binding (GO:0005502)|retinol binding (GO:0019841)|transporter activity (GO:0005215)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(1)|prostate(1)|skin(1)	18	Lung NSC(78;0.0472)|all_lung(78;0.089)				Vitamin A(DB00162)	CTTCCGTGCGCGGATGAAGCG	0.667																																						ENST00000268125.5																			0				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(1)|prostate(1)|skin(1)	18						c.(301-303)cGc>cAc		retinaldehyde binding protein 1	Vitamin A(DB00162)						49	49	49					15																	89760395		2200	4299	6499	SO:0001583	missense	6017				response to stimulus|visual perception|vitamin A metabolic process	cytoplasm|soluble fraction	retinol binding|transporter activity	g.chr15:89760395C>T	BC004199	CCDS32324.1	15q26.1	2007-07-16	2001-11-28			ENSG00000140522			10024	protein-coding gene	gene with protein product		180090	"retinaldehyde-binding protein 1"			1733864, 9326942	Standard	NM_000326		Approved	CRALBP	uc002bnl.3	P12271		ENST00000268125.5:c.302G>A	15.37:g.89760395C>T	ENSP00000268125:p.Arg101His						p.R101H	NM_000326.4	NP_000317.1	P12271	RLBP1_HUMAN			5	741	-	Lung NSC(78;0.0472)|all_lung(78;0.089)		101					B2R667	Missense_Mutation	SNP	ENST00000268125.5	37	c.302G>A	CCDS32324.1	.	.	.	.	.	.	.	.	.	.	C	27.5	4.835124	0.91117	.	.	ENSG00000140522	ENST00000268125	D	0.92647	-3.08	5.03	5.03	0.67393	Phosphatidylinositol transfer protein-like, N-terminal (1);Cellular retinaldehyde-binding/triple function, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.97312	0.9121	H	0.94771	3.58	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98537	1.0630	10	0.87932	D	0	-18.1351	18.3642	0.90385	0.0:1.0:0.0:0.0	.	101	P12271	RLBP1_HUMAN	H	101	ENSP00000268125:R101H	ENSP00000268125:R101H	R	-	2	0	RLBP1	87561399	1.000000	0.71417	0.950000	0.38849	0.605000	0.37080	7.216000	0.77974	2.341000	0.79615	0.561000	0.74099	CGC		0.667	RLBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421135.1	NM_000326		22	35	0	0	0	0.062417	0	22	35					T	89760395	C	T	89760395	3	4	169	1	0	0	0	0	1	0	0	0	13388	768	27	1	671	1	RLBP1	15	89760395	Missense_Mutation	SNP	C	TCGA-G9-6369-01A-21D-1961-08		89760395	12770997	38	8094											
SEC14L5	9717	broad.mit.edu	37	chr16	5038269	5038269	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcgtggtggtgaacgagcaCtgcagctacacggtgagccc	8	6	15	12	4	0	2	0	2	0	0	0	3	0	2	1	3	6	3	1	3	2	1			TCGA-G9-6369-01A-21D-1961-08	TCGA-G9-6369-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	954243c2-9440-4e7f-950d-ab48dfe1b570	46642782-ebe5-4fd1-8991-d0ee682f5ab5	g.chr16:5038269C>G	ENST00000251170.7	+	4	513	c.333C>G	c.(331-333)caC>caG	p.H111Q		NM_014692.1	NP_055507.1	O43304	S14L5_HUMAN	SEC14-like 5 (S. cerevisiae)	111	PRELI/MSF1. {ECO:0000255|PROSITE- ProRule:PRU00158}.					integral component of membrane (GO:0016021)|intracellular (GO:0005622)	transporter activity (GO:0005215)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|skin(1)	29						TGAACGAGCACTGCAGCTACA	0.632																																						ENST00000251170.7																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|skin(1)	29						c.(331-333)caC>caG		SEC14-like 5 (S. cerevisiae)							44	47	46					16																	5038269		2178	4270	6448	SO:0001583	missense	9717					integral to membrane|intracellular	transporter activity	g.chr16:5038269C>G	AB007880	CCDS45403.1	16p13.3	2008-02-05				ENSG00000103184			29032	protein-coding gene	gene with protein product						9455477	Standard	NM_014692		Approved	KIAA0420, PRELID4B	uc002cye.2	O43304		ENST00000251170.7:c.333C>G	16.37:g.5038269C>G	ENSP00000251170:p.His111Gln						p.H111Q	NM_014692.1	NP_055507.1	O43304	S14L5_HUMAN			4	513	+			111			PRELI/MSF1.			Missense_Mutation	SNP	ENST00000251170.7	37	c.333C>G	CCDS45403.1	.	.	.	.	.	.	.	.	.	.	C	13.16	2.155502	0.38021	.	.	ENSG00000103184	ENST00000251170	T	0.16597	2.33	4.34	3.39	0.38822	PRELI/MSF1 (2);	0.379769	0.23700	N	0.045438	T	0.18467	0.0443	L	0.54323	1.7	0.32248	N	0.571834	B	0.31705	0.336	B	0.37480	0.251	T	0.13229	-1.0517	10	0.28530	T	0.3	-29.3994	9.5812	0.39488	0.0:0.7779:0.1419:0.0802	.	111	O43304	S14L5_HUMAN	Q	111	ENSP00000251170:H111Q	ENSP00000251170:H111Q	H	+	3	2	SEC14L5	4978270	0.068000	0.21057	0.995000	0.50966	0.673000	0.39480	0.265000	0.18515	1.057000	0.40506	0.491000	0.48974	CAC		0.632	SEC14L5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434379.1			10	31	0	0	0	0.069234	0	10	31					G	5038269	C	G	5038269	3	3	169	1	0	0	0	0	1	0	0	0	13985	564	20	5	343	5	SEC14L5	16	5038269	Missense_Mutation	SNP	C	TCGA-G9-6369-01A-21D-1961-08		5038269	85316484	39	8095											
OTOA	146183	broad.mit.edu	37	chr16	21726417	21726417	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcaggtcctgagaagtgccGtctcccagtatgtatccgac	8	9	11	13	3	1	1	0	1	1	1	4	3	3	1	4	1	1	3	4	1	3	2	rs572283930		TCGA-G9-6369-01A-21D-1961-08	TCGA-G9-6369-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	954243c2-9440-4e7f-950d-ab48dfe1b570	46642782-ebe5-4fd1-8991-d0ee682f5ab5	g.chr16:21726417G>A	ENST00000286149.4	+	13	1475	c.1474G>A	c.(1474-1476)Gtc>Atc	p.V492I	OTOA_ENST00000388956.4_Missense_Mutation_p.V399I|OTOA_ENST00000388957.3_Missense_Mutation_p.V154I|OTOA_ENST00000388958.3_Missense_Mutation_p.V478I			Q7RTW8	OTOAN_HUMAN	otoancorin	492					cell-matrix adhesion (GO:0007160)|sensory perception of sound (GO:0007605)|transmission of nerve impulse (GO:0019226)	anchored component of membrane (GO:0031225)|apical plasma membrane (GO:0016324)|proteinaceous extracellular matrix (GO:0005578)		p.V478I(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)	46				GBM - Glioblastoma multiforme(48;0.0414)		GAGAAGTGCCGTCTCCCAGTA	0.577													G|||	1	0.000199681	0	0	5008	,	,		22005	0		0	False		,,,				2504	0.001					ENST00000388958.3																			1	Substitution - Missense(1)	p.V478I(1)	large_intestine(1)	breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)	46						c.(1432-1434)Gtc>Atc		otoancorin							232	210	217					16																	21726417		2199	4300	6499	SO:0001583	missense	146183				sensory perception of sound	anchored to membrane|apical plasma membrane|proteinaceous extracellular matrix		g.chr16:21726417G>A	AK057335	CCDS10600.2, CCDS32403.1, CCDS53994.1	16p12.2	2009-08-18	2002-07-05		ENSG00000155719	ENSG00000155719			16378	protein-coding gene	gene with protein product	"cancer/testis antigen 108"	607038	"deafness, autosomal recessive 22"	DFNB22		11972037, 19088187	Standard	NM_170664		Approved	CT108	uc002djh.3	Q7RTW8	OTTHUMG00000090721	ENST00000286149.4:c.1474G>A	16.37:g.21726417G>A	ENSP00000286149:p.Val492Ile					OTOA_ENST00000388956.4_Missense_Mutation_p.V399I|OTOA_ENST00000388957.3_Missense_Mutation_p.V154I|OTOA_ENST00000286149.4_Missense_Mutation_p.V492I	p.V478I	NM_144672.3	NP_653273.3	Q7RTW8	OTOAN_HUMAN		GBM - Glioblastoma multiforme(48;0.0414)	13	1433	+			492					A1L3A8|A2VDI0|B3KWU3|E9PF51|Q8NA86|Q96M76	Missense_Mutation	SNP	ENST00000286149.4	37	c.1432G>A		.	.	.	.	.	.	.	.	.	.	G	0.298	-0.975420	0.02215	.	.	ENSG00000155719	ENST00000388958;ENST00000286149;ENST00000388956;ENST00000388957	T;T;T;T	0.78816	-1.21;-1.21;-1.21;-1.21	5.66	-11.0	0.00169	.	1.733600	0.03195	N	0.173902	T	0.41373	0.1156	N	0.00538	-1.39	0.09310	N	1	B;B;B;B	0.14012	0.007;0.007;0.009;0.004	B;B;B;B	0.06405	0.002;0.002;0.002;0.002	T	0.44651	-0.9314	10	0.21540	T	0.41	0.534	11.4065	0.49900	0.5645:0.3473:0.0881:0.0	.	492;399;154;478	Q7RTW8;B3KWU3;Q7RTW8-2;E9PF51	OTOAN_HUMAN;.;.;.	I	478;492;399;154	ENSP00000373610:V478I;ENSP00000286149:V492I;ENSP00000373608:V399I;ENSP00000373609:V154I	ENSP00000286149:V492I	V	+	1	0	OTOA	21633918	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-1.881000	0.01626	-1.967000	0.01008	-1.822000	0.00598	GTC		0.577	OTOA-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000430021.1			18	252	0	0	0	0.055883	0	18	252					A	21726417	G	A	21726417	3	1	169	1	0	0	0	0	1	0	0	0	11302	1145	40	1	1528	1	OTOA	16	21726417	Missense_Mutation	SNP	G	TCGA-G9-6369-01A-21D-1961-08	16688148	21726417	68628336	40	8096											
TRPV2	51393	broad.mit.edu	37	chr17	16321003	16321003	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgacctcaccctccagctcTccagttttcaggttggagac	8	11	8	14	0	3	2	2	1	1	1	5	3	4	2	4	2	1	3	4	2	0	3			TCGA-G9-6369-01A-21D-1961-08	TCGA-G9-6369-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	954243c2-9440-4e7f-950d-ab48dfe1b570	46642782-ebe5-4fd1-8991-d0ee682f5ab5	g.chr17:16321003T>C	ENST00000338560.7	+	2	420	c.21T>C	c.(19-21)tcT>tcC	p.S7S	TRPV2_ENST00000577397.1_5'UTR|RP11-138I1.2_ENST00000580996.1_RNA	NM_016113.4	NP_057197.2	Q9Y5S1	TRPV2_HUMAN	transient receptor potential cation channel, subfamily V, member 2	7	Required for interaction with SLC50A1. {ECO:0000250}.				calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|positive regulation of axon extension (GO:0045773)|positive regulation of calcium ion import (GO:0090280)|response to heat (GO:0009408)|response to temperature stimulus (GO:0009266)|sensory perception (GO:0007600)|transmembrane transport (GO:0055085)|transport (GO:0006810)	axonal growth cone (GO:0044295)|cell body (GO:0044297)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endomembrane system (GO:0012505)|growth cone membrane (GO:0032584)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)|ion channel activity (GO:0005216)|ion transmembrane transporter activity (GO:0015075)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|stomach(3)	28				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)		CCTCCAGCTCTCCAGTTTTCA	0.577																																						ENST00000338560.7																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|stomach(3)	28						c.(19-21)tcT>tcC		transient receptor potential cation channel, subfamily V, member 2							74	64	67					17																	16321003		2203	4300	6503	SO:0001819	synonymous_variant	51393				sensory perception	integral to plasma membrane|melanosome	calcium channel activity	g.chr17:16321003T>C	AF129112	CCDS32576.1	17p11.2	2013-01-10			ENSG00000187688	ENSG00000187688		"Voltage-gated ion channels / Transient receptor potential cation channels", "Ankyrin repeat domain containing"	18082	protein-coding gene	gene with protein product		606676				10201375, 16382100	Standard	NM_016113		Approved	VRL, VRL-1, VRL1	uc002gpy.3	Q9Y5S1	OTTHUMG00000058989	ENST00000338560.7:c.21T>C	17.37:g.16321003T>C						TRPV2_ENST00000577397.1_5'UTR	p.S7S	NM_016113.4	NP_057197.2	Q9Y5S1	TRPV2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)	2	420	+			7			Required for interaction with SLC50A1 (By similarity).		A6NML2|A8K0Z0|Q9Y670	Silent	SNP	ENST00000338560.7	37	c.21T>C	CCDS32576.1																																																																																				0.577	TRPV2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130464.2	NM_016113		3	76	0	0	0	0.004672	0	3	76					C	16321003	T	C	16321003	2	2	169	1	0	0	0	0	0	0	0	1	16593	1538	54	4		4	TRPV2	17	16321003	Silent	SNP	T	TCGA-G9-6369-01A-21D-1961-08		16321003	64874207	41	8097											
TCAP	8557	broad.mit.edu	37	chr17	37821715	37821715	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgacactgtccacacggcccGaggaggggtgagtgtgggtc	7	7	17	10	2	0	2	0	2	0	0	2	4	1	3	2	5	0	0	2	5	0	0			TCGA-G9-6369-01A-21D-1961-08	TCGA-G9-6369-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	954243c2-9440-4e7f-950d-ab48dfe1b570	46642782-ebe5-4fd1-8991-d0ee682f5ab5	g.chr17:37821715G>A	ENST00000309889.2	+	1	1276	c.103G>A	c.(103-105)Gag>Aag	p.E35K	PNMT_ENST00000394246.1_5'Flank|PNMT_ENST00000269582.2_5'Flank|TCAP_ENST00000578283.1_Missense_Mutation_p.E35K			O15273	TELT_HUMAN	titin-cap	35					adult heart development (GO:0007512)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle hypertrophy in response to stress (GO:0014898)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of mechanical stimulus (GO:0050982)|detection of muscle stretch (GO:0035995)|muscle filament sliding (GO:0030049)|otic vesicle formation (GO:0030916)|protein complex assembly (GO:0006461)|response to muscle stretch (GO:0035994)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle contraction (GO:0003009)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)	cytosol (GO:0005829)|I band (GO:0031674)|Z disc (GO:0030018)	FATZ binding (GO:0051373)|ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)|titin Z domain binding (GO:0070080)			kidney(1)|lung(1)	2	all_cancers(6;6.59e-85)|all_epithelial(6;2.89e-103)|Breast(7;1.05e-86)|Lung NSC(9;1.15e-09)|all_lung(9;6.24e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|BRCA - Breast invasive adenocarcinoma(8;3.87e-45)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			CACACGGCCCGAGGAGGGGTG	0.617																																						ENST00000309889.2																			0				kidney(1)|lung(1)	2						c.(103-105)Gag>Aag		titin-cap							71	67	68					17																	37821715		2203	4300	6503	SO:0001583	missense	8557				adult heart development|cardiac muscle contraction|cardiac muscle fiber development|cardiac muscle tissue morphogenesis|detection of mechanical stimulus|muscle filament sliding|response to stress|sarcomere organization|skeletal muscle contraction|skeletal muscle myosin thick filament assembly|skeletal muscle thin filament assembly	cytosol|Z disc	structural constituent of muscle|titin binding|titin Z domain binding	g.chr17:37821715G>A	AJ000491	CCDS11342.1	17q12	2014-09-17	2012-09-20		ENSG00000173991	ENSG00000173991			11610	protein-coding gene	gene with protein product	"19 kDa sarcomeric protein"	604488	"limb girdle muscular dystrophy 2G (autosomal recessive)", "titin-cap (telethonin)"	LGMD2G		9350988, 9817758	Standard	NM_003673		Approved	T-cap, TELE, telethonin, CMD1N	uc002hsh.3	O15273	OTTHUMG00000133215	ENST00000309889.2:c.103G>A	17.37:g.37821715G>A	ENSP00000312624:p.Glu35Lys					TCAP_ENST00000578283.1_Missense_Mutation_p.E35K	p.E35K			O15273	TELT_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|BRCA - Breast invasive adenocarcinoma(8;3.87e-45)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)		1	1276	+	all_cancers(6;6.59e-85)|all_epithelial(6;2.89e-103)|Breast(7;1.05e-86)|Lung NSC(9;1.15e-09)|all_lung(9;6.24e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		35					Q96L27	Missense_Mutation	SNP	ENST00000309889.2	37	c.103G>A	CCDS11342.1	.	.	.	.	.	.	.	.	.	.	G	12.31	1.900981	0.33535	.	.	ENSG00000173991	ENST00000309889	D	0.87571	-2.27	5.74	5.74	0.90152	Titin-like domain (1);	0.116476	0.56097	D	0.000025	D	0.87597	0.6217	L	0.29908	0.895	0.54753	D	0.999985	D	0.61697	0.99	P	0.53146	0.719	D	0.88745	0.3246	10	0.72032	D	0.01	-24.8247	19.5082	0.95130	0.0:0.0:1.0:0.0	.	35	O15273	TELT_HUMAN	K	35	ENSP00000312624:E35K	ENSP00000312624:E35K	E	+	1	0	TCAP	35075241	1.000000	0.71417	0.998000	0.56505	0.163000	0.22366	4.234000	0.58658	2.710000	0.92621	0.563000	0.77884	GAG		0.617	TCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256942.1	NM_003673		29	43	0	0	0	0.037714	0	29	43					A	37821715	G	A	37821715	3	1	169	1	0	0	0	0	1	0	0	0	15663	1059	37	2	105	2	TCAP	17	37821715	Missense_Mutation	SNP	G	TCGA-G9-6369-01A-21D-1961-08	21500712	37821715	43373495	42	8098											
SPOP	8405	broad.mit.edu	37	chr17	47696432	47696432	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgaatttcttgaatccccAgtctttgccttgcacaaacc	10	13	6	12	0	2	2	0	2	2	0	3	3	3	2	4	0	3	1	4	0	3	4			TCGA-G9-6369-01A-21D-1961-08	TCGA-G9-6369-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	954243c2-9440-4e7f-950d-ab48dfe1b570	46642782-ebe5-4fd1-8991-d0ee682f5ab5	g.chr17:47696432A>C	ENST00000393328.2	-	6	756	c.391T>G	c.(391-393)Tgg>Ggg	p.W131G	SPOP_ENST00000393331.3_Missense_Mutation_p.W131G|SPOP_ENST00000347630.2_Missense_Mutation_p.W131G|SPOP_ENST00000503676.1_Missense_Mutation_p.W131G|SPOP_ENST00000504102.1_Missense_Mutation_p.W131G|SPOP_ENST00000513080.1_5'Flank	NM_003563.3	NP_003554.1	O43791	SPOP_HUMAN	speckle-type POZ protein	131	Important for binding substrate proteins.|MATH. {ECO:0000255|PROSITE- ProRule:PRU00129}.|Required for nuclear localization.				glucose homeostasis (GO:0042593)|positive regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902237)|positive regulation of type B pancreatic cell apoptotic process (GO:2000676)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	Cul3-RING ubiquitin ligase complex (GO:0031463)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	ubiquitin protein ligase binding (GO:0031625)	p.W131G(2)|p.W131R(1)		endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						TTGAATCCCCAGTCTTTGCCT	0.458										Prostate(2;0.17)																												ENST00000393331.3																			3	Substitution - Missense(3)	p.W131G(2)|p.W131R(1)	prostate(3)	endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						c.(391-393)Tgg>Ggg		speckle-type POZ protein							121	124	123					17																	47696432		2203	4300	6503	SO:0001583	missense	8405				mRNA processing	nucleus	protein binding	g.chr17:47696432A>C	AJ000644	CCDS11551.1	17q21.33	2013-01-09			ENSG00000121067	ENSG00000121067		"BTB/POZ domain containing"	11254	protein-coding gene	gene with protein product		602650				9414087	Standard	NM_001007227		Approved	TEF2, BTBD32	uc002ipg.3	O43791	OTTHUMG00000161496	ENST00000393328.2:c.391T>G	17.37:g.47696432A>C	ENSP00000377001:p.Trp131Gly	Prostate(2;0.17)				SPOP_ENST00000503676.1_Missense_Mutation_p.W131G|SPOP_ENST00000504102.1_Missense_Mutation_p.W131G|SPOP_ENST00000393328.2_Missense_Mutation_p.W131G|SPOP_ENST00000347630.2_Missense_Mutation_p.W131G	p.W131G	NM_001007226.1|NM_001007227.1	NP_001007227.1|NP_001007228.1	O43791	SPOP_HUMAN			7	861	-			131			MATH.|Required for nuclear localization.		B2R6S3|D3DTW7|Q53HJ1	Missense_Mutation	SNP	ENST00000393328.2	37	c.391T>G	CCDS11551.1	.	.	.	.	.	.	.	.	.	.	A	20.8	4.058244	0.76074	.	.	ENSG00000121067	ENST00000393328;ENST00000393331;ENST00000347630;ENST00000504102;ENST00000503536;ENST00000503676;ENST00000513872;ENST00000509079;ENST00000505581;ENST00000507970;ENST00000514121	T;T;T;T;T;T;T;T;T	0.70045	-0.45;-0.45;-0.45;-0.45;-0.45;-0.45;-0.45;-0.45;-0.45	5.41	5.41	0.78517	TRAF-type (1);TRAF-like (1);MATH (3);	0.000000	0.85682	D	0.000000	T	0.81851	0.4910	H	0.95402	3.665	0.80722	D	1	P	0.43024	0.798	P	0.47786	0.557	D	0.87031	0.2135	10	0.72032	D	0.01	0.1404	15.258	0.73599	1.0:0.0:0.0:0.0	.	131	O43791	SPOP_HUMAN	G	131;131;131;131;15;131;84;131;131;131;131	ENSP00000377001:W131G;ENSP00000377004:W131G;ENSP00000240327:W131G;ENSP00000425905:W131G;ENSP00000420908:W131G;ENSP00000426986:W131G;ENSP00000420960:W131G;ENSP00000426262:W131G;ENSP00000424119:W131G	ENSP00000240327:W131G	W	-	1	0	SPOP	45051431	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.056000	0.93881	2.261000	0.74972	0.460000	0.39030	TGG		0.458	SPOP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365154.2	NM_003563		79	106	0	0	0	0.048971	0	79	106					C	47696432	A	C	47696432	3	2	169	1	0	0	0	0	1	0	0	0	15083	188	7	5	757	5	SPOP	17	47696432	Missense_Mutation	SNP	A	TCGA-G9-6369-01A-21D-1961-08	9874717	47696432	33498778	43	8099											
PTPN2	5771	broad.mit.edu	37	chr18	12802000	12802000	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctcctccattgtatcttgcaTtttagaggaaagtcctgtac	9	15	7	10	0	1	1	0	0	1	1	4	2	4	2	3	1	2	3	3	1	4	6			TCGA-G9-6369-01A-21D-1961-08	TCGA-G9-6369-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	954243c2-9440-4e7f-950d-ab48dfe1b570	46642782-ebe5-4fd1-8991-d0ee682f5ab5	g.chr18:12802000T>C	ENST00000309660.5	-	8	1102	c.1009A>G	c.(1009-1011)Atg>Gtg	p.M337V	PTPN2_ENST00000591497.1_Missense_Mutation_p.M308V|PTPN2_ENST00000327283.3_Missense_Mutation_p.M337V|PTPN2_ENST00000353319.4_Missense_Mutation_p.M337V|PTPN2_ENST00000591115.1_Missense_Mutation_p.M360V	NM_002828.3	NP_002819.2	P17706	PTN2_HUMAN	protein tyrosine phosphatase, non-receptor type 2	337					B cell differentiation (GO:0030183)|cytokine-mediated signaling pathway (GO:0019221)|erythrocyte differentiation (GO:0030218)|glucose homeostasis (GO:0042593)|insulin receptor signaling pathway (GO:0008286)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chemotaxis (GO:0050922)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of inflammatory response (GO:0050728)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of interferon-gamma-mediated signaling pathway (GO:0060336)|negative regulation of interleukin-2-mediated signaling pathway (GO:1902206)|negative regulation of interleukin-4-mediated signaling pathway (GO:1902215)|negative regulation of interleukin-6-mediated signaling pathway (GO:0070104)|negative regulation of lipid storage (GO:0010888)|negative regulation of macrophage colony-stimulating factor signaling pathway (GO:1902227)|negative regulation of macrophage differentiation (GO:0045650)|negative regulation of platelet-derived growth factor receptor-beta signaling pathway (GO:2000587)|negative regulation of positive thymic T cell selection (GO:1902233)|negative regulation of prolactin signaling pathway (GO:1902212)|negative regulation of T cell receptor signaling pathway (GO:0050860)|negative regulation of tumor necrosis factor-mediated signaling pathway (GO:0010804)|negative regulation of type I interferon-mediated signaling pathway (GO:0060339)|negative regulation of tyrosine phosphorylation of Stat1 protein (GO:0042512)|negative regulation of tyrosine phosphorylation of Stat3 protein (GO:0042518)|negative regulation of tyrosine phosphorylation of Stat5 protein (GO:0042524)|negative regulation of tyrosine phosphorylation of Stat6 protein (GO:0042527)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of gluconeogenesis (GO:0045722)|regulation of hepatocyte growth factor receptor signaling pathway (GO:1902202)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|T cell differentiation (GO:0030217)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)|protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|receptor tyrosine kinase binding (GO:0030971)|syntaxin binding (GO:0019905)			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|prostate(1)|skin(3)	13		Lung NSC(161;8.94e-06)				GTATCTTGCATTTTAGAGGAA	0.348																																						ENST00000309660.5																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|prostate(1)|skin(3)	13						c.(1009-1011)Atg>Gtg		protein tyrosine phosphatase, non-receptor type 2							183	168	173					18																	12802000		2203	4300	6503	SO:0001583	missense	5771				interferon-gamma-mediated signaling pathway|regulation of interferon-gamma-mediated signaling pathway	endoplasmic reticulum|nucleoplasm	protein binding	g.chr18:12802000T>C	M25393	CCDS11863.1, CCDS11864.1, CCDS11865.1, CCDS59306.1	18p11.3-p11.2	2011-06-09			ENSG00000175354	ENSG00000175354		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"	9650	protein-coding gene	gene with protein product		176887		PTPT		2164224	Standard	NM_002828		Approved	TCELLPTP, TC-PTP, TCPTP	uc002krp.3	P17706	OTTHUMG00000131702	ENST00000309660.5:c.1009A>G	18.37:g.12802000T>C	ENSP00000311857:p.Met337Val					PTPN2_ENST00000591115.1_Missense_Mutation_p.M360V|PTPN2_ENST00000591497.1_Missense_Mutation_p.M308V|PTPN2_ENST00000353319.4_Missense_Mutation_p.M337V|PTPN2_ENST00000327283.3_Missense_Mutation_p.M337V	p.M337V	NM_002828.3	NP_002819.2	P17706	PTN2_HUMAN			8	1102	-		Lung NSC(161;8.94e-06)	337					A8K955|A8MXU3|K7ENG3|Q96AU5|Q96HR2	Missense_Mutation	SNP	ENST00000309660.5	37	c.1009A>G	CCDS11865.1	.	.	.	.	.	.	.	.	.	.	T	4.334	0.061305	0.08339	.	.	ENSG00000175354	ENST00000327283;ENST00000353319;ENST00000341361;ENST00000309660	T;T;T	0.03689	3.85;3.87;3.84	5.52	1.83	0.25207	.	1.941950	0.02406	N	0.081144	T	0.03220	0.0094	N	0.13043	0.29	0.09310	N	1	B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0	B;B;B;B;B	0.04013	0.0;0.001;0.001;0.001;0.0	T	0.44314	-0.9336	10	0.25106	T	0.35	.	7.7278	0.28769	0.0:0.3644:0.0:0.6356	.	337;337;314;337;337	P17706;P17706-2;Q59F91;Q96AU5;A8K3N4	PTN2_HUMAN;.;.;.;.	V	337;337;314;337	ENSP00000320298:M337V;ENSP00000320546:M337V;ENSP00000311857:M337V	ENSP00000311857:M337V	M	-	1	0	PTPN2	12792000	0.802000	0.28943	0.123000	0.21794	0.566000	0.35808	1.061000	0.30542	0.141000	0.18875	0.455000	0.32223	ATG		0.348	PTPN2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254613.3	NM_002828, NM_080422, NM_080423		122	110	0	0	0	0.048971	0	122	110					C	12802000	T	C	12802000	3	2	169	1	0	0	0	0	1	0	0	0	12785	1493	52	4	272	4	PTPN2	18	12802000	Missense_Mutation	SNP	T	TCGA-G9-6369-01A-21D-1961-08		12802000	65275248	44	8100											
LILRA3	11026	broad.mit.edu	37	chr19	54802486	54802486	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccgctgggctcctcacctgTgatcaggatgtccagggggt	5	9	14	13	1	2	1	2	1	0	0	4	2	4	2	4	4	0	2	4	4	0	0	rs201608626	byFrequency	TCGA-G9-6369-01A-21D-1961-08	TCGA-G9-6369-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	954243c2-9440-4e7f-950d-ab48dfe1b570	46642782-ebe5-4fd1-8991-d0ee682f5ab5	g.chr19:54802486T>C	ENST00000251390.3	-	5	1046	c.955A>G	c.(955-957)Aca>Gca	p.T319A	LILRA3_ENST00000391745.1_Missense_Mutation_p.T336A|LILRA3_ENST00000391744.3_Missense_Mutation_p.T255A	NM_006865.3	NP_006856.3	Q8N6C8	LIRA3_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (without TM domain), member 3	319					defense response (GO:0006952)|immune system process (GO:0002376)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)|receptor activity (GO:0004872)			NS(3)|breast(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		TCCTCACCTGTGATCAGGATG	0.682													.|||	29	0.00579073	0.0023	0.0101	5008	,	,		9456	0.001		0.003	False		,,,				2504	0.0153					ENST00000391745.1																			0				NS(3)|breast(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						c.(1006-1008)Aca>Gca		leukocyte immunoglobulin-like receptor, subfamily A (without TM domain), member 3		C	ALA/THR,ALA/THR	1,4367		0,1,2183	20	24	23		763,955	-4.4	0	19		23	15,8283		1,13,4135	no	missense,missense	LILRA3	NM_001172654.1,NM_006865.3	58,58	1,14,6318	CC,CT,TT		0.1808,0.0229,0.1263	,	255/376,319/440	54802486	16,12650	2184	4149	6333	SO:0001583	missense	0							g.chr19:54802486T>C	U91926		19q13.4	2013-01-11						"Leukocyte immunoglobulin-like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6604	protein-coding gene	gene with protein product		604818				9278324, 9548455	Standard	XM_006710242		Approved	LIR-4, HM43, ILT6, HM31, LIR4, CD85e		Q8N6C8		ENST00000251390.3:c.955A>G	19.37:g.54802486T>C	ENSP00000251390:p.Thr319Ala					LILRA3_ENST00000391744.3_Missense_Mutation_p.T255A|LILRA3_ENST00000251390.3_Missense_Mutation_p.T319A	p.T336A						GBM - Glioblastoma multiforme(193;0.105)	9	1322	-	Ovarian(34;0.19)							J3KPM2|O15469|O15470|O75016|Q8N151|Q8N154|Q8NHJ1|Q8NHJ2|Q8NHJ3|Q8NHJ4	Missense_Mutation	SNP	ENST00000251390.3	37	c.1006A>G	CCDS12887.1	.	.	.	.	.	.	.	.	.	.	t	0.001	-3.919994	0.00003	2.29E-4	0.001808	ENSG00000170866	ENST00000251390;ENST00000391744;ENST00000391745	T;T;T	0.00922	5.54;5.54;5.54	2.21	-4.42	0.03579	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	0.887861	0.09198	N	0.835101	T	0.00524	0.0017	N	0.16903	0.455	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.001	T	0.54234	-0.8324	10	0.02654	T	1	.	0.3639	0.00368	0.2103:0.2608:0.1967:0.3321	.	319;319	E7EU74;Q8N6C8	.;LIRA3_HUMAN	A	319;255;336	ENSP00000251390:T319A;ENSP00000375624:T255A;ENSP00000375625:T336A	ENSP00000251390:T319A	T	-	1	0	LILRA3	59494298	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-8.002000	0.00026	-6.916000	0.00002	-4.991000	0.00002	ACA		0.682	LILRA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000140236.1			3	45	0	0	0	0.014758	0	3	45					C	54802486	T	C	54802486	3	2	169	1	0	0	0	0	1	0	0	0	8786	1696	59	4	376	4	LILRA3	19	54802486	Missense_Mutation	SNP	T	TCGA-G9-6369-01A-21D-1961-08		54802486	4326497	45	8101											
SYNJ1	8867	broad.mit.edu	37	chr21	34067407	34067407	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tggcaacatgaccatcatcaTttgttccccggacattaaac	12	11	6	12	1	2	1	2	1	0	0	3	2	3	2	3	2	2	2	3	2	3	3			TCGA-G9-6369-01A-21D-1961-08	TCGA-G9-6369-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	954243c2-9440-4e7f-950d-ab48dfe1b570	46642782-ebe5-4fd1-8991-d0ee682f5ab5	g.chr21:34067407T>G	ENST00000322229.7	-	4	664	c.665A>C	c.(664-666)aAt>aCt	p.N222T	SYNJ1_ENST00000382499.2_Missense_Mutation_p.N261T|SYNJ1_ENST00000382491.3_Missense_Mutation_p.N222T|SYNJ1_ENST00000433931.2_Missense_Mutation_p.N261T|SYNJ1_ENST00000357345.3_Missense_Mutation_p.N222T			O43426	SYNJ1_HUMAN	synaptojanin 1	222	SAC. {ECO:0000255|PROSITE- ProRule:PRU00183}.				cell death (GO:0008219)|inositol phosphate metabolic process (GO:0043647)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|positive regulation of synaptic vesicle uncoating (GO:1903390)|regulation of synaptic vesicle membrane organization (GO:1901632)|small molecule metabolic process (GO:0044281)|synaptic vesicle endocytosis (GO:0048488)	cytosol (GO:0005829)	inositol-polyphosphate 5-phosphatase activity (GO:0004445)|nucleotide binding (GO:0000166)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)|RNA binding (GO:0003723)			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|lung(11)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	57						ACCATCATCATTTGTTCCCCG	0.358																																						ENST00000382499.2																			0				breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|lung(11)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	57						c.(781-783)aAt>aCt		synaptojanin 1							135	124	128					21																	34067407		2203	4300	6503	SO:0001583	missense	8867						inositol-polyphosphate 5-phosphatase activity|nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding	g.chr21:34067407T>G	AF009040	CCDS33539.1, CCDS33540.1, CCDS33539.2, CCDS33540.2, CCDS54483.1	21q22.2	2008-06-23			ENSG00000159082	ENSG00000159082			11503	protein-coding gene	gene with protein product		604297				9428629, 10773674	Standard	NM_203446		Approved	INPP5G	uc002yqh.2	O43426	OTTHUMG00000064926	ENST00000322229.7:c.665A>C	21.37:g.34067407T>G	ENSP00000322234:p.Asn222Thr					SYNJ1_ENST00000382491.3_Missense_Mutation_p.N222T|SYNJ1_ENST00000357345.3_Missense_Mutation_p.N222T|SYNJ1_ENST00000322229.7_Missense_Mutation_p.N222T|SYNJ1_ENST00000433931.2_Missense_Mutation_p.N261T	p.N261T	NM_203446.2	NP_982271.2	O43426	SYNJ1_HUMAN			5	781	-			222			SAC.		O43425|O94984|Q4KMR1	Missense_Mutation	SNP	ENST00000322229.7	37	c.782A>C	CCDS54484.1	.	.	.	.	.	.	.	.	.	.	T	26.6	4.753570	0.89753	.	.	ENSG00000159082	ENST00000382491;ENST00000357345;ENST00000382499;ENST00000433931;ENST00000322229;ENST00000429236	T;T;T;T;T;T	0.63255	-0.03;-0.03;-0.03;-0.03;-0.03;-0.03	4.96	4.96	0.65561	Synaptojanin, N-terminal (2);	0.125717	0.64402	D	0.000001	T	0.80465	0.4628	M	0.87097	2.86	0.80722	D	1	D;P;P;P;P	0.57257	0.979;0.936;0.953;0.732;0.493	D;P;P;P;B	0.65140	0.932;0.857;0.705;0.685;0.157	D	0.84618	0.0682	10	0.87932	D	0	.	14.9796	0.71301	0.0:0.0:0.0:1.0	.	222;261;222;222;222	B9EGN3;C9JFZ1;O43426-2;O43426;O43426-4	.;.;.;SYNJ1_HUMAN;.	T	222;222;261;261;222;222	ENSP00000371931:N222T;ENSP00000349903:N222T;ENSP00000371939:N261T;ENSP00000409667:N261T;ENSP00000322234:N222T;ENSP00000413649:N222T	ENSP00000322234:N222T	N	-	2	0	SYNJ1	32989278	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	7.417000	0.80156	2.012000	0.59069	0.456000	0.33151	AAT		0.358	SYNJ1-201	KNOWN	basic|CCDS	protein_coding	protein_coding				48	80	0	0	0	0.048971	0	48	80					G	34067407	T	G	34067407	3	3	169	1	0	0	0	0	1	0	0	0	15449	1493	52	5	4202	5	SYNJ1	21	34067407	Missense_Mutation	SNP	T	TCGA-G9-6369-01A-21D-1961-08		34067407	14062488	46	8102											
EFHC2	80258	broad.mit.edu	37	chrX	44171919	44171919	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaagtggttctccacctatTccaggcttttcatcactcac	9	13	6	13	0	4	1	3	0	1	1	6	1	5	1	3	2	0	2	3	2	2	5			TCGA-G9-6369-01A-21D-1961-08	TCGA-G9-6369-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	954243c2-9440-4e7f-950d-ab48dfe1b570	46642782-ebe5-4fd1-8991-d0ee682f5ab5	g.chrX:44171919T>C	ENST00000420999.1	-	2	209	c.126A>G	c.(124-126)ggA>ggG	p.G42G		NM_025184.3	NP_079460.2	Q5JST6	EFHC2_HUMAN	EF-hand domain (C-terminal) containing 2	42							calcium ion binding (GO:0005509)			NS(1)|breast(7)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|urinary_tract(1)	29						CTCCACCTATTCCAGGCTTTT	0.418																																						ENST00000420999.1																			0				NS(1)|breast(7)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|urinary_tract(1)	29						c.(124-126)ggA>ggG		EF-hand domain (C-terminal) containing 2							126	106	112					X																	44171919		1867	4091	5958	SO:0001819	synonymous_variant	80258						calcium ion binding	g.chrX:44171919T>C	AK026254	CCDS55405.1	Xp11	2014-01-31			ENSG00000183690	ENSG00000183690		"EF-hand domain containing"	26233	protein-coding gene	gene with protein product		300817	"mental retardation, X-linked 74"	MRX74		17221867	Standard	NM_025184		Approved	FLJ22843	uc004dgb.4	Q5JST6	OTTHUMG00000021393	ENST00000420999.1:c.126A>G	X.37:g.44171919T>C							p.G42G	NM_025184.3	NP_079460.2	Q5JST6	EFHC2_HUMAN			2	209	-			42					Q5JST8|Q68DK4|Q8NEI0|Q9H653	Silent	SNP	ENST00000420999.1	37	c.126A>G	CCDS55405.1																																																																																				0.418	EFHC2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056312.2	NM_025184		24	2	0	0	0	0.076483	0	24	2					C	44171919	T	C	44171919	2	2	169	1	0	0	0	0	0	0	0	1	4947	1770	62	4		4	EFHC2	23	44171919	Silent	SNP	T	TCGA-G9-6369-01A-21D-1961-08		44171919	111098641	47	8103											
NECAP2	55707	broad.mit.edu	37	chr1	16778446	16778446	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaacctccaccctgatcccTccccctggggagcagttggc	8	7	9	17	0	0	1	0	1	0	0	3	2	3	2	6	3	2	2	6	3	2	1			TCGA-G9-6370-01A-11D-1786-08	TCGA-G9-6370-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9689cb33-8ac9-4ee5-800d-3900769988af	8b44f615-8f5d-4c2d-8c8b-8d48de8db586	g.chr1:16778446T>C	ENST00000337132.5	+	6	693	c.603T>C	c.(601-603)ccT>ccC	p.P201P	NECAP2_ENST00000457722.2_Silent_p.P175P|NECAP2_ENST00000406746.1_Silent_p.P201P|NECAP2_ENST00000504551.2_Silent_p.P140P|NECAP2_ENST00000443980.2_Silent_p.P201P	NM_001145278.1|NM_018090.4	NP_001138750.1|NP_060560.1	Q9NVZ3	NECP2_HUMAN	NECAP endocytosis associated 2	201					endocytosis (GO:0006897)|protein transport (GO:0015031)	clathrin vesicle coat (GO:0030125)|coated pit (GO:0005905)|intracellular (GO:0005622)|plasma membrane (GO:0005886)		p.P201P(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	9		Colorectal(325;0.000147)|Renal(390;0.00145)|Lung NSC(340;0.00215)|Breast(348;0.00224)|all_lung(284;0.00351)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(227;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|Kidney(64;0.000181)|KIRC - Kidney renal clear cell carcinoma(64;0.00268)|STAD - Stomach adenocarcinoma(196;0.012)|READ - Rectum adenocarcinoma(331;0.0649)		CCCTGATCCCTCCCCCTGGGG	0.647																																						ENST00000337132.5																			1	Substitution - coding silent(1)	p.P201P(1)	prostate(1)	endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	9						c.(601-603)ccT>ccC		NECAP endocytosis associated 2							51	57	55					1																	16778446		2203	4300	6503	SO:0001819	synonymous_variant	55707				endocytosis|protein transport	clathrin vesicle coat|coated pit|plasma membrane		g.chr1:16778446T>C	AK021938	CCDS173.1, CCDS44066.1, CCDS44067.1	1p36.13	2008-02-05			ENSG00000157191	ENSG00000157191			25528	protein-coding gene	gene with protein product		611624				14555962, 15494011	Standard	NM_001145277		Approved	FLJ10420	uc001ayq.3	Q9NVZ3	OTTHUMG00000002313	ENST00000337132.5:c.603T>C	1.37:g.16778446T>C						NECAP2_ENST00000504551.2_Silent_p.P140P|NECAP2_ENST00000457722.2_Silent_p.P175P|NECAP2_ENST00000443980.2_Silent_p.P201P|NECAP2_ENST00000406746.1_Silent_p.P201P	p.P201P	NM_001145278.1|NM_018090.4	NP_001138750.1|NP_060560.1	Q9NVZ3	NECP2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(227;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|Kidney(64;0.000181)|KIRC - Kidney renal clear cell carcinoma(64;0.00268)|STAD - Stomach adenocarcinoma(196;0.012)|READ - Rectum adenocarcinoma(331;0.0649)	6	693	+		Colorectal(325;0.000147)|Renal(390;0.00145)|Lung NSC(340;0.00215)|Breast(348;0.00224)|all_lung(284;0.00351)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)	201					B4DY19|E9PGQ8|Q5VSU4|Q5VSU5|Q9H7L1|Q9H8L1	Silent	SNP	ENST00000337132.5	37	c.603T>C	CCDS173.1																																																																																				0.647	NECAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006680.2	NM_018090		3	83	0	0	0	0.014758	0	3	83					C	16778446	T	C	16778446	2	2	170	1	0	0	0	0	0	0	0	1	10308	1538	54	4		4	NECAP2	1	16778446	Silent	SNP	T	TCGA-G9-6370-01A-11D-1786-08		16778446	232472175	1	8104											
IL1RAP	3556	broad.mit.edu	37	chr3	190345113	190345113	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttggttttttttttcaggAgaggagctactcattccctg	6	19	9	7	0	2	1	2	0	0	1	3	3	3	2	1	3	2	2	1	3	1	9			TCGA-G9-6370-01A-11D-1786-08	TCGA-G9-6370-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9689cb33-8ac9-4ee5-800d-3900769988af	8b44f615-8f5d-4c2d-8c8b-8d48de8db586	g.chr3:190345113A>G	ENST00000412504.2	+	7	1029	c.777A>G	c.(775-777)ggA>ggG	p.G259G	IL1RAP_ENST00000439062.1_Splice_Site_p.G259G|IL1RAP_ENST00000443369.2_Splice_Site_p.G259G|IL1RAP_ENST00000447382.1_Splice_Site_p.G259G|IL1RAP_ENST00000072516.3_Splice_Site_p.G259G|IL1RAP_ENST00000317757.3_Splice_Site_p.G259G|IL1RAP_ENST00000422940.1_Splice_Site_p.G259G|IL1RAP_ENST00000422485.1_Splice_Site_p.G259G|IL1RAP_ENST00000434491.1_Splice_Site_p.G118G			Q9NPH3	IL1AP_HUMAN	interleukin 1 receptor accessory protein	259	Ig-like C2-type 3.				immune response (GO:0006955)|inflammatory response (GO:0006954)|interleukin-2 biosynthetic process (GO:0042094)|protein complex assembly (GO:0006461)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	interleukin-1 receptor activity (GO:0004908)|signal transducer activity (GO:0004871)	p.G259G(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	20	all_cancers(143;3.61e-10)|Ovarian(172;0.0733)|Breast(254;0.21)		Lung(62;1.95e-06)|LUSC - Lung squamous cell carcinoma(58;2.05e-06)	GBM - Glioblastoma multiforme(93;0.00851)		tttttTCAGGAGAGGAGCTAC	0.323																																						ENST00000412504.2																			2	Substitution - coding silent(2)	p.G259G(2)	prostate(2)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	20						c.e7-1		interleukin 1 receptor accessory protein							92	85	88					3																	190345113		2203	4300	6503	SO:0001630	splice_region_variant	0				inflammatory response|innate immune response|protein complex assembly	extracellular region|integral to plasma membrane		g.chr3:190345113A>G	AB006537	CCDS3298.1, CCDS46982.1, CCDS54696.1	3q28	2013-01-11			ENSG00000196083	ENSG00000196083		"Interleukins and interleukin receptors", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5995	protein-coding gene	gene with protein product		602626				9479509, 9065432	Standard	NM_002182		Approved	IL-1RAcP, IL1R3, C3orf13	uc003fsq.3	Q9NPH3	OTTHUMG00000156211	ENST00000412504.2:c.776-1A>G	3.37:g.190345113A>G						IL1RAP_ENST00000439062.1_Splice_Site_p.G259_splice|IL1RAP_ENST00000447382.1_Splice_Site_p.G259_splice|IL1RAP_ENST00000317757.3_Splice_Site_p.G259_splice|IL1RAP_ENST00000422940.1_Splice_Site_p.G259_splice|IL1RAP_ENST00000443369.2_Splice_Site_p.G259_splice|IL1RAP_ENST00000072516.3_Splice_Site_p.G259_splice|IL1RAP_ENST00000422485.1_Splice_Site_p.G259_splice|IL1RAP_ENST00000434491.1_Splice_Site_p.G118_splice	p.G259_splice			Q9NPH3	IL1AP_HUMAN	Lung(62;1.95e-06)|LUSC - Lung squamous cell carcinoma(58;2.05e-06)	GBM - Glioblastoma multiforme(93;0.00851)	7	1029	+	all_cancers(143;3.61e-10)|Ovarian(172;0.0733)|Breast(254;0.21)		259			Ig-like C2-type 3.		B1NLD0|D3DNW0|O14915|Q86WJ7	Splice_Site	SNP	ENST00000412504.2	37	c.775_splice	CCDS3298.1	.	.	.	.	.	.	.	.	.	.	A	8.449	0.852713	0.17106	.	.	ENSG00000196083	ENST00000412080	.	.	.	5.97	-0.0244	0.13939	.	.	.	.	.	T	0.51805	0.1696	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.40813	-0.9543	4	.	.	.	.	6.3878	0.21569	0.4562:0.0:0.0745:0.4693	.	.	.	.	G	96	.	.	E	+	2	0	IL1RAP	191827807	0.990000	0.36364	1.000000	0.80357	0.506000	0.33950	0.049000	0.14099	0.123000	0.18342	-1.581000	0.00855	GAG		0.323	IL1RAP-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000343497.1		Silent	3	44	0	0	0	0.014758	0	3	44					G	190345113	A	G	190345113	5	3	170	1	0	0	0	0	0	0	1	0	7660	318	11	4	799	4	IL1RAP	3	190345113	Splice_Site	SNP	A	TCGA-G9-6370-01A-11D-1786-08		190345113	7677317	2	8105											
HERC5	51191	broad.mit.edu	37	chr4	89415467	89415467	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaagacttgaaagaactcaGtcctgatttgggaaagtaag	15	9	12	5	0	1	4	1	2	0	2	2	6	2	6	1	2	1	1	1	2	5	3			TCGA-G9-6370-01A-11D-1786-08	TCGA-G9-6370-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9689cb33-8ac9-4ee5-800d-3900769988af	8b44f615-8f5d-4c2d-8c8b-8d48de8db586	g.chr4:89415467G>T	ENST00000264350.3	+	18	2582	c.2429G>T	c.(2428-2430)aGt>aTt	p.S810I	HERC5_ENST00000508159.1_Missense_Mutation_p.S448I|AC083829.1_ENST00000408152.2_RNA	NM_016323.3	NP_057407.2	Q9UII4	HERC5_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 5	810	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|ISG15-protein conjugation (GO:0032020)|negative regulation of type I interferon production (GO:0032480)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of defense response to virus (GO:0050688)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ISG15 ligase activity (GO:0042296)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)	p.S810I(2)|p.S810T(1)		NS(2)|breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|liver(2)|lung(17)|ovary(4)|prostate(1)|skin(4)	53		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000209)		AAAGAACTCAGTCCTGATTTG	0.383																																					Esophageal Squamous(39;887 1012 34045 50514)	ENST00000264350.3																			3	Substitution - Missense(3)	p.S810I(2)|p.S810T(1)	prostate(2)|lung(1)	NS(2)|breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|liver(2)|lung(17)|ovary(4)|prostate(1)|skin(4)	53						c.(2428-2430)aGt>aTt		HECT and RLD domain containing E3 ubiquitin protein ligase 5							72	74	73					4																	89415467		2203	4300	6503	SO:0001583	missense	51191				innate immune response|ISG15-protein conjugation|negative regulation of type I interferon production|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of cyclin-dependent protein kinase activity|regulation of defense response to virus|response to virus	cytosol|perinuclear region of cytoplasm	ISG15 ligase activity|protein binding|ubiquitin-protein ligase activity	g.chr4:89415467G>T	AB027289	CCDS3630.1	4q22.1-q23	2012-02-23	2012-02-23		ENSG00000138646	ENSG00000138646			24368	protein-coding gene	gene with protein product		608242	"hect domain and RLD 5"			10581175	Standard	NM_016323		Approved	CEB1	uc003hrt.4	Q9UII4	OTTHUMG00000130953	ENST00000264350.3:c.2429G>T	4.37:g.89415467G>T	ENSP00000264350:p.Ser810Ile					HERC5_ENST00000508159.1_Missense_Mutation_p.S448I	p.S810I	NM_016323.3	NP_057407.2	Q9UII4	HERC5_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000209)	18	2582	+		Hepatocellular(203;0.114)	810			HECT.		B2RTQ1|Q69G20	Missense_Mutation	SNP	ENST00000264350.3	37	c.2429G>T	CCDS3630.1	.	.	.	.	.	.	.	.	.	.	G	16.01	3.001327	0.54254	.	.	ENSG00000138646	ENST00000264350;ENST00000508159	T;T	0.58358	0.34;0.34	4.48	3.56	0.40772	HECT (4);	0.231893	0.32161	N	0.006488	T	0.67878	0.2940	M	0.87547	2.89	0.23314	N	0.997927	P	0.52061	0.95	P	0.60541	0.876	T	0.60801	-0.7191	10	0.72032	D	0.01	.	5.7944	0.18379	0.1046:0.1976:0.6977:0.0	.	810	Q9UII4	HERC5_HUMAN	I	810;448	ENSP00000264350:S810I;ENSP00000424129:S448I	ENSP00000264350:S810I	S	+	2	0	HERC5	89634490	0.000000	0.05858	1.000000	0.80357	0.948000	0.59901	0.443000	0.21644	2.479000	0.83701	0.491000	0.48974	AGT		0.383	HERC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253554.2	NM_016323		3	60	1	0	0.004672	0.004672	0.00509673	3	60					T	89415467	G	T	89415467	3	4	170	1	0	0	0	0	1	0	0	0	7061	1029	36	5	2499	5	HERC5	4	89415467	Missense_Mutation	SNP	G	TCGA-G9-6370-01A-11D-1786-08		89415467	101738809	3	8106											
RABGAP1	23637	broad.mit.edu	37	chr9	125860018	125860018	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcatatcttaaatgtttcAggctgaggaaaaggcagatg	14	10	11	6	0	2	2	1	1	1	1	2	3	2	3	0	3	1	4	0	3	5	3			TCGA-G9-6370-01A-11D-1786-08	TCGA-G9-6370-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9689cb33-8ac9-4ee5-800d-3900769988af	8b44f615-8f5d-4c2d-8c8b-8d48de8db586	g.chr9:125860018A>G	ENST00000373647.4	+	22	2762		c.e22-1		RABGAP1_ENST00000373643.5_Splice_Site	NM_012197.3	NP_036329.3	Q9Y3P9	RBGP1_HUMAN	RAB GTPase activating protein 1						cell cycle (GO:0007049)|positive regulation of GTPase activity (GO:0043547)|regulation of GTP catabolic process (GO:0033124)	centrosome (GO:0005813)|cytosol (GO:0005829)|microtubule associated complex (GO:0005875)	DNA binding (GO:0003677)|GTPase activator activity (GO:0005096)|Rab GTPase activator activity (GO:0005097)|Rab GTPase binding (GO:0017137)|tubulin binding (GO:0015631)	p.?(2)		breast(3)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|prostate(4)|stomach(3)|upper_aerodigestive_tract(1)	41						TAAATGTTTCAGGCTGAGGAA	0.403																																						ENST00000373647.4																			2	Unknown(2)	p.?(2)	prostate(2)	breast(3)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|prostate(4)|stomach(3)|upper_aerodigestive_tract(1)	41						c.e22-1		RAB GTPase activating protein 1							100	101	101					9																	125860018		2203	4300	6503	SO:0001630	splice_region_variant	23637				cell cycle	centrosome|cytosol|microtubule associated complex	Rab GTPase activator activity|tubulin binding	g.chr9:125860018A>G	AJ011679	CCDS6848.2	9q34.11	2013-07-09			ENSG00000011454	ENSG00000011454			17155	protein-coding gene	gene with protein product	"rab6 GTPase activating protein (GAP and centrosome-associated)", "TBC1 domain family, member 11"	615882				10202141	Standard	NM_012197		Approved	GAPCenA, TBC1D11	uc011lzh.2	Q9Y3P9	OTTHUMG00000020633	ENST00000373647.4:c.2629-1A>G	9.37:g.125860018A>G						RABGAP1_ENST00000373643.5_Splice_Site		NM_012197.3	NP_036329.3	Q9Y3P9	RBGP1_HUMAN			22	2762	+								B9A6L2|Q05CW2|Q6ZMY1|Q9HA28|Q9P0E2|Q9UG67	Splice_Site	SNP	ENST00000373647.4	37		CCDS6848.2	.	.	.	.	.	.	.	.	.	.	A	21.4	4.143152	0.77888	.	.	ENSG00000011454	ENST00000373647;ENST00000373643	.	.	.	5.15	5.15	0.70609	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.1426	0.72623	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	RABGAP1	124899839	1.000000	0.71417	0.992000	0.48379	0.910000	0.53928	8.998000	0.93550	2.170000	0.68504	0.459000	0.35465	.		0.403	RABGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053976.3	NM_012197	Intron	3	73	0	0	0	0.004672	0	3	73					G	125860018	A	G	125860018	5	3	170	1	0	0	0	0	0	0	1	0	12964	202	7	4	2709	4	RABGAP1	9	125860018	Splice_Site	SNP	A	TCGA-G9-6370-01A-11D-1786-08		125860018	15353413	4	8107											
OR10P1	121130	broad.mit.edu	37	chr12	56031094	56031094	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttccaccctcttgagcccacGggcctgcatggccatggtgg	5	9	12	15	1	1	1	0	1	1	0	2	1	2	1	5	4	2	1	5	4	0	2			TCGA-G9-6370-01A-11D-1786-08	TCGA-G9-6370-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9689cb33-8ac9-4ee5-800d-3900769988af	8b44f615-8f5d-4c2d-8c8b-8d48de8db586	g.chr12:56031094G>A	ENST00000309675.2	+	1	451	c.419G>A	c.(418-420)cGg>cAg	p.R140Q	RP11-644F5.16_ENST00000556606.1_RNA	NM_206899.1	NP_996782.1	Q8NGE3	O10P1_HUMAN	olfactory receptor, family 10, subfamily P, member 1	140						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R140Q(1)		autonomic_ganglia(1)|central_nervous_system(2)|endometrium(4)|large_intestine(3)|lung(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	26						TTGAGCCCACGGGCCTGCATG	0.617																																						ENST00000309675.2																			1	Substitution - Missense(1)	p.R140Q(1)	prostate(1)	autonomic_ganglia(1)|central_nervous_system(2)|endometrium(4)|large_intestine(3)|lung(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	26						c.(418-420)cGg>cAg		olfactory receptor, family 10, subfamily P, member 1							107	81	90					12																	56031094		2203	4300	6503	SO:0001583	missense	121130				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr12:56031094G>A	BK004259	CCDS31828.1	12q13.13	2012-08-09		2004-03-10		ENSG00000175398		"GPCR / Class A : Olfactory receptors"	15378	protein-coding gene	gene with protein product				OR10P1P, OR10P2P, OR10P3P			Standard	NM_206899		Approved	OST701	uc010spq.2	Q8NGE3	OTTHUMG00000169961	ENST00000309675.2:c.419G>A	12.37:g.56031094G>A	ENSP00000308082:p.Arg140Gln						p.R140Q	NM_206899.1	NP_996782.1	Q8NGE3	O10P1_HUMAN			1	451	+			140					B9EGY4	Missense_Mutation	SNP	ENST00000309675.2	37	c.419G>A	CCDS31828.1	.	.	.	.	.	.	.	.	.	.	G	3.917	-0.018967	0.07681	.	.	ENSG00000175398	ENST00000309675	T	0.01527	4.8	4.34	-6.59	0.01830	GPCR, rhodopsin-like superfamily (1);	1.178510	0.06409	N	0.720282	T	0.01730	0.0055	L	0.39085	1.19	0.09310	N	1	B	0.19583	0.037	B	0.15484	0.013	T	0.41893	-0.9483	10	0.32370	T	0.25	.	10.3035	0.43667	0.6963:0.1146:0.1891:0.0	.	140	Q8NGE3	O10P1_HUMAN	Q	140	ENSP00000308082:R140Q	ENSP00000308082:R140Q	R	+	2	0	OR10P1	54317361	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.416000	0.01035	-1.452000	0.01931	-0.254000	0.11334	CGG		0.617	OR10P1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406680.1			7	69	0	0	0	0.02938	0	7	69					A	56031094	G	A	56031094	3	1	170	1	0	0	0	0	1	0	0	0	10915	1116	39	2	421	2	OR10P1	12	56031094	Missense_Mutation	SNP	G	TCGA-G9-6370-01A-11D-1786-08		56031094	77820801	5	8108											
LACTB	114294	broad.mit.edu	37	chr15	63421818	63421818	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgctgacgactgtgcaggaaGaaaacgagccagtgatttac	13	8	12	8	2	0	3	0	2	0	1	0	6	0	4	1	1	5	2	1	1	4	2			TCGA-G9-6370-01A-11D-1786-08	TCGA-G9-6370-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9689cb33-8ac9-4ee5-800d-3900769988af	8b44f615-8f5d-4c2d-8c8b-8d48de8db586	g.chr15:63421818G>A	ENST00000261893.4	+	5	1159	c.1087G>A	c.(1087-1089)Gaa>Aaa	p.E363K	LACTB_ENST00000413507.2_Missense_Mutation_p.E363K|RPS27L_ENST00000559763.1_Intron	NM_032857.3	NP_116246.2	P83111	LACTB_HUMAN	lactamase, beta	363						cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	hydrolase activity (GO:0016787)	p.E363K(1)		NS(1)|breast(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)|stomach(1)	12						TGTGCAGGAAGAAAACGAGCC	0.373																																					Melanoma(85;443 1381 6215 27308 35583)	ENST00000413507.2																			1	Substitution - Missense(1)	p.E363K(1)	prostate(1)	NS(1)|breast(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)|stomach(1)	12						c.(1087-1089)Gaa>Aaa		lactamase, beta							86	85	85					15																	63421818		2203	4300	6503	SO:0001583	missense	114294					mitochondrion	hydrolase activity	g.chr15:63421818G>A	AK027808	CCDS10182.1, CCDS45275.1	15q22.1	2012-11-14	2001-12-12	2001-12-14	ENSG00000103642	ENSG00000103642		"Mitochondrial ribosomal proteins / large subunits"	16468	protein-coding gene	gene with protein product		608440	"mitochondrial ribosomal protein L56"	MRPL56		11707067	Standard	NM_032857		Approved	FLJ14902	uc002alw.3	P83111	OTTHUMG00000132807	ENST00000261893.4:c.1087G>A	15.37:g.63421818G>A	ENSP00000261893:p.Glu363Lys					RPS27L_ENST00000559763.1_Intron|LACTB_ENST00000261893.4_Missense_Mutation_p.E363K	p.E363K	NM_171846.2	NP_741982.1	P83111	LACTB_HUMAN			5	1126	+			363					P83096	Missense_Mutation	SNP	ENST00000261893.4	37	c.1087G>A	CCDS10182.1	.	.	.	.	.	.	.	.	.	.	G	17.05	3.289043	0.59976	.	.	ENSG00000103642	ENST00000261893;ENST00000413507	T;T	0.43294	0.95;0.99	5.32	5.32	0.75619	Beta-lactamase/transpeptidase-like (2);Beta-lactamase-related (1);	0.095872	0.64402	D	0.000001	T	0.40546	0.1121	M	0.66939	2.045	0.80722	D	1	B	0.29232	0.238	B	0.27380	0.079	T	0.38520	-0.9657	10	0.06365	T	0.9	-23.3635	17.9923	0.89172	0.0:0.0:1.0:0.0	.	363	P83111	LACTB_HUMAN	K	363	ENSP00000261893:E363K;ENSP00000392956:E363K	ENSP00000261893:E363K	E	+	1	0	LACTB	61208871	1.000000	0.71417	0.999000	0.59377	0.992000	0.81027	7.181000	0.77682	2.465000	0.83290	0.557000	0.71058	GAA		0.373	LACTB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256224.1	NM_032857		4	60	0	0	0	0.02938	0	4	60					A	63421818	G	A	63421818	3	1	170	1	0	0	0	0	1	0	0	0	8597	943	33	3	1105	3	LACTB	15	63421818	Missense_Mutation	SNP	G	TCGA-G9-6370-01A-11D-1786-08		63421818	39109574	6	8109											
PHKA2	5256	broad.mit.edu	37	chrX	18929061	18929061	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ggcacttagaactttagtcgGcaaagtcatgggaacaactg	13	9	11	8	1	1	1	1	0	0	1	2	2	1	2	0	3	3	2	0	3	6	3			TCGA-G9-6370-01A-11D-1786-08	TCGA-G9-6370-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9689cb33-8ac9-4ee5-800d-3900769988af	8b44f615-8f5d-4c2d-8c8b-8d48de8db586	g.chrX:18929061G>A	ENST00000379942.4	-	20	2820	c.2155C>T	c.(2155-2157)Ccg>Tcg	p.P719S		NM_000292.2	NP_000283.1	P46019	KPB2_HUMAN	phosphorylase kinase, alpha 2 (liver)	719					carbohydrate metabolic process (GO:0005975)|cellular protein modification process (GO:0006464)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|protein phosphorylation (GO:0006468)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|phosphorylase kinase complex (GO:0005964)|plasma membrane (GO:0005886)	hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)|phosphorylase kinase activity (GO:0004689)			NS(1)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61	Hepatocellular(33;0.183)					ACTTTAGTCGGCAAAGTCATG	0.363																																						ENST00000379942.4																			0				NS(1)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61						c.(2155-2157)Ccg>Tcg		phosphorylase kinase, alpha 2 (liver)							120	115	117					X																	18929061		2203	4300	6503	SO:0001583	missense	5256				glucose metabolic process|glycogen catabolic process	cytosol|phosphorylase kinase complex|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity	g.chrX:18929061G>A		CCDS14190.1	Xp22.2-p22.1	2009-07-10			ENSG00000044446	ENSG00000044446	2.7.11.19		8926	protein-coding gene	gene with protein product		300798		PHK, PYK		2387090	Standard	NM_000292		Approved		uc004cyv.4	P46019	OTTHUMG00000021222	ENST00000379942.4:c.2155C>T	X.37:g.18929061G>A	ENSP00000369274:p.Pro719Ser						p.P719S	NM_000292.2	NP_000283.1	P46019	KPB2_HUMAN			20	2820	-	Hepatocellular(33;0.183)		719					A8K1T1|Q6LAJ5|Q7Z6W0|Q96CR3|Q9UDA1	Missense_Mutation	SNP	ENST00000379942.4	37	c.2155C>T	CCDS14190.1	.	.	.	.	.	.	.	.	.	.	G	12.39	1.922393	0.33908	.	.	ENSG00000044446	ENST00000379942	D	0.90563	-2.69	5.75	5.75	0.90469	Glycoside hydrolase 15-related (1);	0.000000	0.85682	D	0.000000	D	0.90504	0.7025	L	0.60455	1.87	0.58432	D	0.999996	B	0.24576	0.106	B	0.36378	0.223	D	0.86944	0.2081	10	0.26408	T	0.33	-10.3521	17.078	0.86591	0.0:0.0:1.0:0.0	.	719	P46019	KPB2_HUMAN	S	719	ENSP00000369274:P719S	ENSP00000369274:P719S	P	-	1	0	PHKA2	18838982	1.000000	0.71417	0.999000	0.59377	0.465000	0.32709	6.010000	0.70753	2.412000	0.81896	0.600000	0.82982	CCG		0.363	PHKA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055960.1	NM_000292		4	76	0	0	0	0.009096	0	4	76					A	18929061	G	A	18929061	3	1	170	1	0	0	0	0	1	0	0	0	11844	1203	42	3	1608	3	PHKA2	23	18929061	Missense_Mutation	SNP	G	TCGA-G9-6370-01A-11D-1786-08		18929061	136341499	7	8110											
TMCC2	9911	broad.mit.edu	37	chr1	205238670	205238670	+	Frame_Shift_Del	DEL	A	A	-																															caacatcgcccacctgaaggAccccctggaagatgggcccc																										TCGA-G9-6371-01A-11D-1786-08	TCGA-G9-6371-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65af285-c62e-40df-9f49-f0812e33dcfa	1d2cf02e-fd49-43d8-b55f-b3a799069f5b	g.chr1:205238670delA	ENST00000358024.3	+	3	1729	c.1340delA	c.(1339-1341)gacfs	p.D447fs	TMCC2_ENST00000329800.7_Frame_Shift_Del_p.D207fs|TMCC2_ENST00000330675.7_Frame_Shift_Del_p.D222fs|TMCC2_ENST00000545499.1_Frame_Shift_Del_p.D369fs|TMCC2_ENST00000495538.1_3'UTR	NM_014858.3	NP_055673.2	O75069	TMCC2_HUMAN	transmembrane and coiled-coil domain family 2	447						integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(3)|pancreas(1)|skin(1)|urinary_tract(1)	20	Breast(84;0.0871)		BRCA - Breast invasive adenocarcinoma(75;0.117)			CACCTGAAGGACCCCCTGGAA	0.642																																						ENST00000358024.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(3)|pancreas(1)|skin(1)|urinary_tract(1)	20						c.(1339-1341)gcfs		transmembrane and coiled-coil domain family 2							45	52	50					1																	205238670		2203	4300	6503	SO:0001589	frameshift_variant	9911					integral to membrane	protein binding	g.chr1:205238670delA	AB001596	CCDS30984.1, CCDS55676.1, CCDS73010.1	1q32.1	2008-02-05	2005-07-13		ENSG00000133069	ENSG00000133069		"Transmembrane and coiled-coil domain containing"	24239	protein-coding gene	gene with protein product			"transmembrane and coiled-coil domains 2"			9455484	Standard	NM_014858		Approved	HUCEP11, FLJ38497	uc021pia.1	O75069	OTTHUMG00000037195	ENST00000358024.3:c.1340delA	1.37:g.205238670delA	ENSP00000350718:p.Asp447fs					TMCC2_ENST00000545499.1_Frame_Shift_Del_p.D369fs|TMCC2_ENST00000329800.7_Frame_Shift_Del_p.D207fs|TMCC2_ENST00000495538.1_3'UTR|TMCC2_ENST00000330675.7_Frame_Shift_Del_p.D222fs	p.D447fs	NM_014858.3	NP_055673.2	O75069	TMCC2_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.117)		3	1729	+	Breast(84;0.0871)		447					A2RRH3|B7Z1P7|Q6ZN09	Frame_Shift_Del	DEL	ENST00000358024.3	37	c.1340delA	CCDS30984.1																																																																																				0.642	TMCC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000090383.1	NM_014858		7	104						7	104	---	---	---	---	-	205238670	A	-	205238670	7	5	171	1	0	1	0	1	0	0	0	0	15990	275	10	0	1350	0	TMCC2	1	205238670	Frame_Shift_Del	DEL	A	TCGA-G9-6371-01A-11D-1786-08		205238670	44011951	1	8111											
ABCB10	23456	broad.mit.edu	37	chr1	229666037	229666037	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtgccgtgacagatcctgaCggaatggaaaggctgaaatc	13	7	13	8	2	0	4	0	3	0	1	2	6	1	6	2	3	1	1	2	3	3	0	rs140426197	byFrequency	TCGA-G9-6371-01A-11D-1786-08	TCGA-G9-6371-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65af285-c62e-40df-9f49-f0812e33dcfa	1d2cf02e-fd49-43d8-b55f-b3a799069f5b	g.chr1:229666037C>T	ENST00000344517.4	-	8	1596	c.1554G>A	c.(1552-1554)ccG>ccA	p.P518P		NM_012089.2	NP_036221.2	Q9NRK6	ABCBA_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 10	518	ABC transporter. {ECO:0000255|PROSITE- ProRule:PRU00434}.				transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of mitochondrial membrane (GO:0032592)|mitochondrial inner membrane (GO:0005743)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)	p.P518P(1)		breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)	31	Breast(184;0.143)|Ovarian(103;0.249)	Prostate(94;0.167)				CAGATCCTGACGGAATGGAAA	0.507													C|||	13	0.00259585	0	0.0043	5008	,	,		18968	0		0.004	False		,,,				2504	0.0061					ENST00000344517.4																			1	Substitution - coding silent(1)	p.P518P(1)	prostate(1)	breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)	31						c.(1552-1554)ccG>ccA		ATP-binding cassette, sub-family B (MDR/TAP), member 10		C		3,4403	6.2+/-15.9	0,3,2200	124	117	119		1554	-7.5	0	1	dbSNP_134	119	53,8547	34.3+/-88.2	0,53,4247	no	coding-synonymous	ABCB10	NM_012089.2		0,56,6447	TT,TC,CC		0.6163,0.0681,0.4306		518/739	229666037	56,12950	2203	4300	6503	SO:0001819	synonymous_variant	23456					integral to mitochondrial membrane|mitochondrial inner membrane	ATP binding|oligopeptide-transporting ATPase activity	g.chr1:229666037C>T	U18237	CCDS1580.1	1q32	2012-03-14			ENSG00000135776	ENSG00000135776		"ATP binding cassette transporters / subfamily B"	41	protein-coding gene	gene with protein product	"ATP-binding cassette sub-family B member 10, mitochondrial", "ATP-binding cassette transporter 10", "ABC transporter 10 protein", "mitochondrial ATP-binding cassette 2"	605454				7766993	Standard	NM_012089		Approved	EST20237, M-ABC2, MTABC2	uc001htp.4	Q9NRK6	OTTHUMG00000039471	ENST00000344517.4:c.1554G>A	1.37:g.229666037C>T							p.P518P	NM_012089.2	NP_036221.2	Q9NRK6	ABCBA_HUMAN			8	1596	-	Breast(184;0.143)|Ovarian(103;0.249)	Prostate(94;0.167)	518			ABC transporter.		Q13040|Q6P1Q8|Q9H3V0	Silent	SNP	ENST00000344517.4	37	c.1554G>A	CCDS1580.1																																																																																				0.507	ABCB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095240.1	NM_012089		11	131	0	0	0	0.069234	0	11	131					T	229666037	C	T	229666037	2	4	171	1	0	0	0	0	0	0	0	1	41	523	19	1		1	ABCB10	1	229666037	Silent	SNP	C	TCGA-G9-6371-01A-11D-1786-08	24427367	229666037	19584584	2	8112											
RYR2	6262	broad.mit.edu	37	chr1	237870322	237870322	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gagaaactcatggaagaaatCgtggaattagccgagtccgg	14	7	13	7	3	1	2	1	0	0	2	3	6	2	4	2	3	2	0	2	3	5	1			TCGA-G9-6371-01A-11D-1786-08	TCGA-G9-6371-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65af285-c62e-40df-9f49-f0812e33dcfa	1d2cf02e-fd49-43d8-b55f-b3a799069f5b	g.chr1:237870322C>T	ENST00000366574.2	+	68	9971	c.9654C>T	c.(9652-9654)atC>atT	p.I3218I	RYR2_ENST00000360064.6_Silent_p.I3216I|RYR2_ENST00000542537.1_Silent_p.I3202I|RYR2_ENST00000609119.1_3'UTR	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	3218					BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)	p.I3216I(1)|p.I3218I(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TGGAAGAAATCGTGGAATTAG	0.453																																						ENST00000366574.2																			2	Substitution - coding silent(2)	p.I3216I(1)|p.I3218I(1)	prostate(2)	NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586						c.(9652-9654)atC>atT		ryanodine receptor 2 (cardiac)							130	127	128					1																	237870322		1940	4154	6094	SO:0001819	synonymous_variant	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237870322C>T	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"Ion channels / Ryanodine receptors", "EF-hand domain containing"	10484	protein-coding gene	gene with protein product		180902	"arrhythmogenic right ventricular dysplasia 2"	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.9654C>T	1.37:g.237870322C>T						RYR2_ENST00000360064.6_Silent_p.I3216I|RYR2_ENST00000542537.1_Silent_p.I3202I	p.I3218I	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		68	9971	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	3218					Q15411|Q546N8|Q5T3P2	Silent	SNP	ENST00000366574.2	37	c.9654C>T	CCDS55691.1																																																																																				0.453	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		11	153	0	0	0	0.080935	0	11	153					T	237870322	C	T	237870322	2	4	171	1	0	0	0	0	0	0	0	1	13769	874	31	2		2	RYR2	1	237870322	Silent	SNP	C	TCGA-G9-6371-01A-11D-1786-08	8204285	237870322	11380299	3	8113											
NLRP3	114548	broad.mit.edu	37	chr1	247587215	247587215	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cattgaagacaggaatgcccGtctgggtgagagtgtgagcc	10	8	15	8	1	1	4	0	3	1	2	1	6	1	5	2	2	2	0	2	2	2	1	rs533920557		TCGA-G9-6371-01A-11D-1786-08	TCGA-G9-6371-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65af285-c62e-40df-9f49-f0812e33dcfa	1d2cf02e-fd49-43d8-b55f-b3a799069f5b	g.chr1:247587215G>A	ENST00000336119.3	+	3	1216	c.470G>A	c.(469-471)cGt>cAt	p.R157H	NLRP3_ENST00000348069.2_Missense_Mutation_p.R157H|NLRP3_ENST00000366496.2_Missense_Mutation_p.R157H|NLRP3_ENST00000366497.2_Missense_Mutation_p.R157H|NLRP3_ENST00000391828.3_Missense_Mutation_p.R157H|NLRP3_ENST00000474792.1_3'UTR|NLRP3_ENST00000391827.2_Missense_Mutation_p.R157H	NM_001127462.2|NM_001243133.1|NM_004895.4	NP_001120934.1|NP_001230062.1|NP_004886.3	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3	157					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|cellular response to lipopolysaccharide (GO:0071222)|defense response (GO:0006952)|defense response to virus (GO:0051607)|detection of biotic stimulus (GO:0009595)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-1 beta production (GO:0032611)|interleukin-1 secretion (GO:0050701)|interleukin-18 production (GO:0032621)|negative regulation of acute inflammatory response (GO:0002674)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 beta secretion (GO:0050713)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|NLRP3 inflammasome complex assembly (GO:0044546)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein oligomerization (GO:0051259)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|NLRP3 inflammasome complex (GO:0072559)	ATP binding (GO:0005524)|peptidoglycan binding (GO:0042834)	p.R157H(2)		NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			AGGAATGCCCGTCTGGGTGAG	0.522													G|||	1	0.000199681	0	0	5008	,	,		21031	0.001		0	False		,,,				2504	0					ENST00000366497.2																			2	Substitution - Missense(2)	p.R157H(2)	prostate(1)|endometrium(1)	NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142						c.(469-471)cGt>cAt		NLR family, pyrin domain containing 3							95	75	82					1																	247587215		2203	4300	6503	SO:0001583	missense	114548				detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding	g.chr1:247587215G>A	AF054176	CCDS1632.1, CCDS1633.1, CCDS44346.1, CCDS44347.1	1q44	2014-09-17	2006-12-08	2006-12-08	ENSG00000162711	ENSG00000162711		"Nucleotide-binding domain and leucine rich repeat containing"	16400	protein-coding gene	gene with protein product	"Cryopyrin", "nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 3"	606416	"cold autoinflammatory syndrome 1"	C1orf7, CIAS1		10741953	Standard	NM_183395		Approved	AGTAVPRL, AII, AVP, FCAS, FCU, NALP3, PYPAF1, MWS, CLR1.1	uc001icr.3	Q96P20	OTTHUMG00000040647	ENST00000336119.3:c.470G>A	1.37:g.247587215G>A	ENSP00000337383:p.Arg157His					NLRP3_ENST00000391827.2_Missense_Mutation_p.R157H|NLRP3_ENST00000474792.1_3'UTR|NLRP3_ENST00000336119.3_Missense_Mutation_p.R157H|NLRP3_ENST00000348069.2_Missense_Mutation_p.R157H|NLRP3_ENST00000366496.2_Missense_Mutation_p.R157H|NLRP3_ENST00000391828.3_Missense_Mutation_p.R157H	p.R157H	NM_001127461.2	NP_001120933.1	Q96P20	NALP3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0141)		4	1250	+	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	157					B2RC97|B7ZKS9|B7ZKT2|B7ZKT3|O75434|Q17RS2|Q59H68|Q5JQS8|Q5JQS9|Q6TG35|Q8TCW0|Q8TEU9|Q8WXH9	Missense_Mutation	SNP	ENST00000336119.3	37	c.470G>A	CCDS1632.1	.	.	.	.	.	.	.	.	.	.	G	17.32	3.359037	0.61403	.	.	ENSG00000162711	ENST00000391828;ENST00000366497;ENST00000336119;ENST00000348069;ENST00000366496;ENST00000391827	D;D;D;D;D;D	0.89196	-2.48;-2.48;-2.48;-2.48;-2.48;-2.48	4.27	4.27	0.50696	.	0.000000	0.51477	D	0.000081	D	0.92319	0.7563	M	0.71206	2.165	0.33532	D	0.593746	D;D;D;D;D	0.89917	1.0;1.0;1.0;0.997;0.958	D;D;D;D;P	0.97110	0.917;0.975;1.0;0.924;0.585	D	0.90744	0.4652	10	0.15066	T	0.55	.	12.5127	0.56015	0.0:0.0:1.0:0.0	.	157;157;157;157;157	B7ZKS9;Q96P20-4;Q96P20-2;Q96P20-5;Q96P20	.;.;.;.;NALP3_HUMAN	H	157	ENSP00000375704:R157H;ENSP00000355453:R157H;ENSP00000337383:R157H;ENSP00000294752:R157H;ENSP00000355452:R157H;ENSP00000375703:R157H	ENSP00000337383:R157H	R	+	2	0	NLRP3	245653838	0.043000	0.20138	0.997000	0.53966	0.916000	0.54674	2.089000	0.41672	2.669000	0.90835	0.655000	0.94253	CGT		0.522	NLRP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097740.1	NM_004895		5	34	0	0	0	0.014758	0	5	34					A	247587215	G	A	247587215	3	1	171	1	0	0	0	0	1	0	0	0	10478	1145	40	1	480	1	NLRP3	1	247587215	Missense_Mutation	SNP	G	TCGA-G9-6371-01A-11D-1786-08	9716893	247587215	1663406	4	8114											
POTEF	728378	broad.mit.edu	37	chr2	130832500	130832500	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agagtccatcacgatgccagTagtacggccagaggtgtaca	12	7	12	10	2	1	2	1	0	0	2	2	3	2	2	3	2	3	3	3	2	3	3			TCGA-G9-6371-01A-11D-1786-08	TCGA-G9-6371-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65af285-c62e-40df-9f49-f0812e33dcfa	1d2cf02e-fd49-43d8-b55f-b3a799069f5b	g.chr2:130832500T>C	ENST00000409914.2	-	17	2944	c.2545A>G	c.(2545-2547)Act>Gct	p.T849A	POTEF_ENST00000357462.5_Missense_Mutation_p.T849A	NM_001099771.2	NP_001093241.1	A5A3E0	POTEF_HUMAN	POTE ankyrin domain family, member F	849	Actin-like.				retina homeostasis (GO:0001895)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)		p.T849A(1)		breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(28)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	53						ACGATGCCAGTAGTACGGCCA	0.602																																						ENST00000357462.5																			1	Substitution - Missense(1)	p.T849A(1)	prostate(1)	breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(28)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	53						c.(2545-2547)Act>Gct		POTE ankyrin domain family, member F							83	99	94					2																	130832500		2196	4288	6484	SO:0001583	missense	728378					cell cortex	ATP binding	g.chr2:130832500T>C	EF523384	CCDS46409.1	2q21.1	2013-01-10	2008-11-26	2008-11-26	ENSG00000196604	ENSG00000196604		"POTE ankyrin domain containing", "Ankyrin repeat domain containing"	33905	protein-coding gene	gene with protein product			"ANKRD26-like family C, member 1B"	A26C1B		17101985	Standard	NM_001099771		Approved	POTEACTIN, POTE2alpha	uc010fmh.2	A5A3E0	OTTHUMG00000153628	ENST00000409914.2:c.2545A>G	2.37:g.130832500T>C	ENSP00000386786:p.Thr849Ala					POTEF_ENST00000409914.2_Missense_Mutation_p.T849A	p.T849A			A5A3E0	POTEF_HUMAN			15	2638	-			849			Actin-like.		A6NC34	Missense_Mutation	SNP	ENST00000409914.2	37	c.2545A>G	CCDS46409.1	.	.	.	.	.	.	.	.	.	.	.	14.02	2.411700	0.42817	.	.	ENSG00000196604	ENST00000357462;ENST00000409914	T;T	0.10763	2.84;2.84	.	.	.	.	.	.	.	.	T	0.30510	0.0767	H	0.99090	4.425	0.80722	D	1	B	0.18310	0.027	B	0.33521	0.165	T	0.07966	-1.0745	8	0.87932	D	0	.	4.5487	0.12098	0.0:6.0E-4:0.0:0.9994	.	849	A5A3E0	POTEF_HUMAN	A	849	ENSP00000350052:T849A;ENSP00000386786:T849A	ENSP00000350052:T849A	T	-	1	0	POTEF	130548970	1.000000	0.71417	0.132000	0.22025	0.134000	0.20937	5.392000	0.66272	0.103000	0.17682	0.102000	0.15555	ACT		0.602	POTEF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331889.2	NM_001099771		20	188	0	0	0	0.069288	0	20	188					C	130832500	T	C	130832500	3	2	171	1	0	0	0	0	1	0	0	0	12265	1638	57	4	686	4	POTEF	2	130832500	Missense_Mutation	SNP	T	TCGA-G9-6371-01A-11D-1786-08		130832500	112366873	5	8115											
FARSB	10056	broad.mit.edu	37	chr2	223507640	223507640	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcatatctattggcagggaCgtcaattttgtaaagaacaa	15	12	8	6	1	3	1	2	0	1	1	3	2	3	2	0	2	1	2	0	2	7	6	rs139085353		TCGA-G9-6371-01A-11D-1786-08	TCGA-G9-6371-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65af285-c62e-40df-9f49-f0812e33dcfa	1d2cf02e-fd49-43d8-b55f-b3a799069f5b	g.chr2:223507640C>T	ENST00000281828.6	-	3	462	c.199G>A	c.(199-201)Gtc>Atc	p.V67I	FARSB_ENST00000536361.1_5'UTR	NM_005687.3	NP_005678.3	Q9NSD9	SYFB_HUMAN	phenylalanyl-tRNA synthetase, beta subunit	67					gene expression (GO:0010467)|phenylalanyl-tRNA aminoacylation (GO:0006432)|translation (GO:0006412)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|phenylalanine-tRNA ligase activity (GO:0004826)|RNA binding (GO:0003723)	p.V67I(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	24		Renal(207;0.0183)		Epithelial(121;3.47e-10)|all cancers(144;1.86e-07)|LUSC - Lung squamous cell carcinoma(224;0.00871)|Lung(261;0.011)	L-Phenylalanine(DB00120)	TTGGCAGGGACGTCAATTTTG	0.388													C|||	1	0.000199681	0	0	5008	,	,		15348	0.001		0	False		,,,				2504	0					ENST00000281828.6																			1	Substitution - Missense(1)	p.V67I(1)	prostate(1)	breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	24						c.(199-201)Gtc>Atc		phenylalanyl-tRNA synthetase, beta subunit	L-Phenylalanine(DB00120)						92	87	88					2																	223507640		2203	4300	6503	SO:0001583	missense	10056				phenylalanyl-tRNA aminoacylation	cytosol|soluble fraction	ATP binding|magnesium ion binding|phenylalanine-tRNA ligase activity|RNA binding	g.chr2:223507640C>T	AF042346	CCDS2454.1	2q36.2	2011-07-01	2007-02-23	2007-02-23	ENSG00000116120	ENSG00000116120	6.1.1.20	"Aminoacyl tRNA synthetases / Class II"	17800	protein-coding gene	gene with protein product	"phenylalanine tRNA ligase 1, beta, cytoplasmic"	609690	"phenylalanyl-tRNA synthetase-like, beta subunit"	FARSLB		10049785	Standard	NM_005687		Approved	PheHB, FRSB	uc002vne.1	Q9NSD9	OTTHUMG00000133155	ENST00000281828.6:c.199G>A	2.37:g.223507640C>T	ENSP00000281828:p.Val67Ile					FARSB_ENST00000536361.1_5'UTR	p.V67I	NM_005687.3	NP_005678.3	Q9NSD9	SYFB_HUMAN		Epithelial(121;3.47e-10)|all cancers(144;1.86e-07)|LUSC - Lung squamous cell carcinoma(224;0.00871)|Lung(261;0.011)	3	462	-		Renal(207;0.0183)	67					B4DFM0|O95708|Q4ZFX1|Q57ZJ5|Q9NZZ6	Missense_Mutation	SNP	ENST00000281828.6	37	c.199G>A	CCDS2454.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	10.33	1.320396	0.23994	.	.	ENSG00000116120	ENST00000281828	.	.	.	5.62	5.62	0.85841	DNA binding domain, putative (1);	0.000000	0.85682	D	0.000000	T	0.41282	0.1152	N	0.17594	0.5	0.80722	D	1	B;B	0.17038	0.02;0.005	B;B	0.17979	0.02;0.003	T	0.39603	-0.9606	9	0.02654	T	1	-19.9392	19.6753	0.95930	0.0:1.0:0.0:0.0	.	67;67	A8K666;Q9NSD9	.;SYFB_HUMAN	I	67	.	ENSP00000281828:V67I	V	-	1	0	FARSB	223215884	1.000000	0.71417	0.932000	0.37286	0.963000	0.63663	5.780000	0.68956	2.648000	0.89879	0.563000	0.77884	GTC		0.388	FARSB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256855.2	NM_005687		13	27	0	0	0	0.132662	0	13	27					T	223507640	C	T	223507640	3	4	171	1	0	0	0	0	1	0	0	0	5680	536	19	1	1630	1	FARSB	2	223507640	Missense_Mutation	SNP	C	TCGA-G9-6371-01A-11D-1786-08	92675140	223507640	19691733	6	8116											
IFT57	55081	broad.mit.edu	37	chr3	107885800	107885800	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctgatcttttccaaagtcctAgtaatttcattatggagttt	10	18	6	7	0	2	1	1	1	1	0	4	2	4	2	2	1	0	2	2	1	4	7	rs143767161		TCGA-G9-6371-01A-11D-1786-08	TCGA-G9-6371-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65af285-c62e-40df-9f49-f0812e33dcfa	1d2cf02e-fd49-43d8-b55f-b3a799069f5b	g.chr3:107885800A>G	ENST00000264538.3	-	8	1129	c.882T>C	c.(880-882)acT>acC	p.T294T	IFT57_ENST00000468021.1_5'UTR	NM_018010.3	NP_060480.1	Q9NWB7	IFT57_HUMAN	intraflagellar transport 57	294					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|cilium assembly (GO:0042384)|heart looping (GO:0001947)|intraciliary transport (GO:0042073)|left/right pattern formation (GO:0060972)|negative regulation of epithelial cell proliferation (GO:0050680)|neural tube closure (GO:0001843)|regulation of apoptotic process (GO:0042981)|regulation of transcription, DNA-templated (GO:0006355)|smoothened signaling pathway (GO:0007224)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|dendrite terminus (GO:0044292)|Golgi apparatus (GO:0005794)|intraciliary transport particle B (GO:0030992)|photoreceptor connecting cilium (GO:0032391)	DNA binding (GO:0003677)	p.T294T(1)		kidney(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(2)	14			OV - Ovarian serous cystadenocarcinoma(3;0.0428)|Epithelial(53;0.246)			CCAAAGTCCTAGTAATTTCAT	0.358																																						ENST00000264538.3																			1	Substitution - coding silent(1)	p.T294T(1)	prostate(1)	kidney(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(2)	14						c.(880-882)acT>acC		intraflagellar transport 57 homolog (Chlamydomonas)		A		2,4404	2.1+/-5.4	0,2,2201	103	98	100		882	2.1	1	3	dbSNP_134	100	0,8600		0,0,4300	no	coding-synonymous	IFT57	NM_018010.3		0,2,6501	GG,GA,AA		0.0,0.0454,0.0154		294/430	107885800	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	55081				activation of caspase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cilium|microtubule basal body	DNA binding|protein binding	g.chr3:107885800A>G	AK001009	CCDS2951.1	3q13.13	2014-07-03	2014-07-03	2005-11-02	ENSG00000114446	ENSG00000114446		"Intraflagellar transport homologs"	17367	protein-coding gene	gene with protein product		606621	"estrogen-related receptor beta like 1", "intraflagellar transport 57 homolog (Chlamydomonas)"	ESRRBL1			Standard	NM_018010		Approved	FLJ10147, HIPPI, MHS4R2	uc003dwx.4	Q9NWB7	OTTHUMG00000159223	ENST00000264538.3:c.882T>C	3.37:g.107885800A>G						IFT57_ENST00000468021.1_5'UTR	p.T294T	NM_018010.3	NP_060480.1	Q9NWB7	IFT57_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;0.0428)|Epithelial(53;0.246)		8	1129	-			294					Q96DA9	Silent	SNP	ENST00000264538.3	37	c.882T>C	CCDS2951.1																																																																																				0.358	IFT57-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353918.1	NM_018010		9	26	0	0	0	0.058154	0	9	26					G	107885800	A	G	107885800	2	3	171	1	0	0	0	0	0	0	0	1	7562	407	15	4		4	IFT57	3	107885800	Silent	SNP	A	TCGA-G9-6371-01A-11D-1786-08		107885800	90136630	7	8117											
C4orf37	285555	broad.mit.edu	37	chr4	99030364	99030364	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggactatatcatactgtccTggaccaggacctgacttttt	9	14	8	10	0	1	1	1	1	0	0	2	4	2	4	3	3	1	0	3	3	3	5			TCGA-G9-6371-01A-11D-1786-08	TCGA-G9-6371-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65af285-c62e-40df-9f49-f0812e33dcfa	1d2cf02e-fd49-43d8-b55f-b3a799069f5b	g.chr4:99030364T>C	ENST00000295268.3	-	4	569	c.480A>G	c.(478-480)ccA>ccG	p.P160P		NM_174952.2	NP_777612.1	Q8N412	STPG2_HUMAN	sperm-tail PG-rich repeat containing 2	160								p.P160P(1)									CATACTGTCCTGGACCAGGAC	0.333																																						ENST00000295268.3																			1	Substitution - coding silent(1)	p.P160P(1)	prostate(1)								c.(478-480)ccA>ccG		sperm-tail PG-rich repeat containing 2							64	64	64					4																	99030364		2203	4297	6500	SO:0001819	synonymous_variant	285555							g.chr4:99030364T>C	BC036870	CCDS3645.1	4q22.3-q23	2013-10-11	2012-07-30	2012-07-30	ENSG00000163116	ENSG00000163116			28712	protein-coding gene	gene with protein product			"chromosome 4 open reading frame 37"	C4orf37		23031811	Standard	NM_174952		Approved	MGC46496	uc003htt.2	Q8N412	OTTHUMG00000131009	ENST00000295268.3:c.480A>G	4.37:g.99030364T>C							p.P160P	NM_174952.2	NP_777612.1					4	569	-									Silent	SNP	ENST00000295268.3	37	c.480A>G	CCDS3645.1																																																																																				0.333	STPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253642.1	NM_174952		3	76	0	0	0	0.009096	0	3	76					C	99030364	T	C	99030364	2	2	171	1	0	0	0	0	0	0	0	1	2267	1567	55	4		4	C4orf37	4	99030364	Silent	SNP	T	TCGA-G9-6371-01A-11D-1786-08		99030364	92123912	8	8118											
ZNF131	7690	broad.mit.edu	37	chr5	43139402	43139402	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gctagaagctatcaaagcccTtgaagtcaggtacttaattt	13	12	8	8	0	2	2	2	1	0	1	2	2	2	2	1	1	3	3	1	1	7	6			TCGA-G9-6371-01A-11D-1786-08	TCGA-G9-6371-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65af285-c62e-40df-9f49-f0812e33dcfa	1d2cf02e-fd49-43d8-b55f-b3a799069f5b	g.chr5:43139402T>G	ENST00000399534.1	+	4	406	c.362T>G	c.(361-363)cTt>cGt	p.L121R	ZNF131_ENST00000306938.4_Missense_Mutation_p.L121R|ZNF131_ENST00000505606.2_Missense_Mutation_p.L121R|ZNF131_ENST00000509634.1_Missense_Mutation_p.L121R|ZNF131_ENST00000509931.1_Intron|ZNF131_ENST00000509156.1_Missense_Mutation_p.L121R			P52739	ZN131_HUMAN	zinc finger protein 131	121					regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.L121R(1)		breast(2)|endometrium(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	17						ATCAAAGCCCTTGAAGTCAGG	0.358																																						ENST00000509634.1																			1	Substitution - Missense(1)	p.L121R(1)	prostate(1)	breast(2)|endometrium(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	17						c.(361-363)cTt>cGt		zinc finger protein 131							107	100	102					5																	43139402		1858	4102	5960	SO:0001583	missense	7690					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr5:43139402T>G	U09410	CCDS43313.1	5p12	2013-01-09	2006-06-13		ENSG00000172262	ENSG00000172262		"Zinc fingers, C2H2-type", "-", "BTB/POZ domain containing"	12915	protein-coding gene	gene with protein product	"zinc finger and BTB domain containing 35"	604073	"zinc finger protein 131 (clone pHZ-10)"				Standard	XM_005248359		Approved	ZBTB35, pHZ-10	uc003jnk.3	P52739	OTTHUMG00000162223	ENST00000399534.1:c.362T>G	5.37:g.43139402T>G	ENSP00000382450:p.Leu121Arg					ZNF131_ENST00000509156.1_Missense_Mutation_p.L121R|ZNF131_ENST00000509931.1_Intron|ZNF131_ENST00000399534.1_Missense_Mutation_p.L121R|ZNF131_ENST00000306938.4_Missense_Mutation_p.L121R|ZNF131_ENST00000505606.2_Missense_Mutation_p.L121R	p.L121R			P52739	ZN131_HUMAN			3	818	+			121					B4DRL3|Q6PIF0	Missense_Mutation	SNP	ENST00000399534.1	37	c.362T>G		.	.	.	.	.	.	.	.	.	.	T	23.0	4.366514	0.82463	.	.	ENSG00000172262	ENST00000515326;ENST00000509156;ENST00000508259;ENST00000306938;ENST00000399534;ENST00000505606;ENST00000509634;ENST00000509341	T;T;T;T;T;T;T;T	0.23147	1.92;1.92;1.92;1.92;1.92;1.92;1.92;1.92	5.24	5.24	0.73138	BTB/POZ-like (1);BTB/POZ (1);BTB/POZ fold (2);	0.127830	0.52532	D	0.000078	T	0.50343	0.1610	M	0.70595	2.14	0.51012	D	0.999904	D;D	0.76494	0.994;0.999	D;D	0.91635	0.94;0.999	T	0.50767	-0.8789	10	0.48119	T	0.1	-10.9617	15.1417	0.72615	0.0:0.0:0.0:1.0	.	121;121	P52739;P52739-2	ZN131_HUMAN;.	R	121	ENSP00000422079:L121R;ENSP00000426504:L121R;ENSP00000422659:L121R;ENSP00000305804:L121R;ENSP00000382450:L121R;ENSP00000423945:L121R;ENSP00000421246:L121R;ENSP00000424771:L121R	ENSP00000305804:L121R	L	+	2	0	ZNF131	43175159	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.381000	0.79718	1.964000	0.57103	0.533000	0.62120	CTT		0.358	ZNF131-201	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000367982.1	NM_003432		3	67	0	0	0	0.115264	0	3	67					G	43139402	T	G	43139402	3	3	171	1	0	0	0	0	1	0	0	0	17718	1609	56	5	372	5	ZNF131	5	43139402	Missense_Mutation	SNP	T	TCGA-G9-6371-01A-11D-1786-08		43139402	137775858	9	8119											
APBB3	10307	broad.mit.edu	37	chr5	139939911	139939911	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gactcaccatacaggcagccTgcacagcttcagagagtccc	11	6	9	15	0	2	1	2	0	0	1	3	3	3	1	3	1	4	3	3	1	1	2			TCGA-G9-6371-01A-11D-1786-08	TCGA-G9-6371-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65af285-c62e-40df-9f49-f0812e33dcfa	1d2cf02e-fd49-43d8-b55f-b3a799069f5b	g.chr5:139939911T>A	ENST00000357560.4	-	12	1654	c.1211A>T	c.(1210-1212)cAg>cTg	p.Q404L	APBB3_ENST00000356738.2_Missense_Mutation_p.Q409L|APBB3_ENST00000354402.5_Missense_Mutation_p.Q411L|APBB3_ENST00000507279.1_5'Flank|SRA1_ENST00000520427.1_5'Flank|APBB3_ENST00000358580.5_3'UTR|APBB3_ENST00000412920.3_Missense_Mutation_p.Q402L|APBB3_ENST00000508496.2_Missense_Mutation_p.Q181L|SRA1_ENST00000336283.6_5'Flank	NM_006051.3|NM_133173.2	NP_006042.3|NP_573419.2	O95704	APBB3_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 3	404	PID 2. {ECO:0000255|PROSITE- ProRule:PRU00148}.					actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.Q411L(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)	11			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACAGGCAGCCTGCACAGCTTC	0.617																																						ENST00000357560.4																			1	Substitution - Missense(1)	p.Q411L(1)	prostate(1)	endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)	11						c.(1210-1212)cAg>cTg		amyloid beta (A4) precursor protein-binding, family B, member 3							51	50	50					5																	139939911		2203	4300	6503	SO:0001583	missense	10307					actin cytoskeleton|cytoplasm		g.chr5:139939911T>A	AB018247	CCDS4227.1, CCDS4228.1, CCDS4229.1, CCDS47279.1	5q31	2008-02-05			ENSG00000113108	ENSG00000113108			20708	protein-coding gene	gene with protein product		602711				9407065	Standard	NM_133172		Approved	FE65L2	uc003lgd.1	O95704	OTTHUMG00000129504	ENST00000357560.4:c.1211A>T	5.37:g.139939911T>A	ENSP00000350171:p.Gln404Leu					APBB3_ENST00000358580.5_3'UTR|APBB3_ENST00000508496.2_Missense_Mutation_p.Q181L|APBB3_ENST00000354402.5_Missense_Mutation_p.Q411L|APBB3_ENST00000412920.3_Missense_Mutation_p.Q402L|APBB3_ENST00000356738.2_Missense_Mutation_p.Q409L	p.Q404L	NM_006051.3|NM_133173.2	NP_006042.3|NP_573419.2	O95704	APBB3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		12	1654	-			404			PID 2.		B3KQN9|Q08AG4|Q96Q18|Q9BYD4|Q9NYX6|Q9NYX7|Q9NYX8	Missense_Mutation	SNP	ENST00000357560.4	37	c.1211A>T	CCDS4229.1	.	.	.	.	.	.	.	.	.	.	T	21.0	4.078137	0.76528	.	.	ENSG00000113108	ENST00000356738;ENST00000354402;ENST00000357560;ENST00000508496;ENST00000412920	T;T;T;T;T	0.21031	2.03;2.03;2.03;2.03;2.03	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	T	0.41511	0.1162	L	0.56199	1.76	0.80722	D	1	D;D	0.71674	0.998;0.998	D;D	0.76071	0.986;0.987	T	0.11991	-1.0565	9	.	.	.	-11.3932	15.2079	0.73195	0.0:0.0:0.0:1.0	.	402;409	O95704-2;O95704-3	.;.	L	409;411;404;181;402	ENSP00000349177:Q409L;ENSP00000346378:Q411L;ENSP00000350171:Q404L;ENSP00000444013:Q181L;ENSP00000402591:Q402L	.	Q	-	2	0	APBB3	139920095	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.896000	0.87350	2.078000	0.62432	0.533000	0.62120	CAG		0.617	APBB3-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251677.2	NM_006051		3	64	0	0	0	0.115264	0	3	64					A	139939911	T	A	139939911	3	1	171	1	0	0	0	0	1	0	0	0	762	1580	55	5	257	5	APBB3	5	139939911	Missense_Mutation	SNP	T	TCGA-G9-6371-01A-11D-1786-08	96800509	139939911	40975349	10	8120											
PCDHAC1	56135	broad.mit.edu	37	chr5	140307487	140307487	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gactgacgtgaacgatcatgCccccgaactggacttcctga	10	8	10	13	3	1	3	1	3	0	0	2	7	2	4	3	1	3	0	3	1	2	1			TCGA-G9-6371-01A-11D-1786-08	TCGA-G9-6371-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65af285-c62e-40df-9f49-f0812e33dcfa	1d2cf02e-fd49-43d8-b55f-b3a799069f5b	g.chr5:140307487C>T	ENST00000253807.2	+	1	1010	c.1010C>T	c.(1009-1011)gCc>gTc	p.A337V	PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHAC1_ENST00000409700.3_Missense_Mutation_p.A337V|PCDHA9_ENST00000532602.1_Intron	NM_018898.3	NP_061721.2	Q9H158	PCDC1_HUMAN	protocadherin alpha subfamily C, 1	337	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.A337V(1)		NS(2)|breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|liver(2)|lung(13)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	65			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AACGATCATGCCCCCGAACTG	0.532																																						ENST00000253807.2																			1	Substitution - Missense(1)	p.A337V(1)	prostate(1)	NS(2)|breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|liver(2)|lung(13)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	65						c.(1009-1011)gCc>gTc									172	158	163					5																	140307487		2203	4300	6503	SO:0001583	missense	0							g.chr5:140307487C>T	AF152473	CCDS4241.1	5q31	2010-11-26			ENSG00000248383	ENSG00000248383		"Cadherins / Protocadherins : Clustered"	8676	other	complex locus constituent	"PCDH-ALPHA-C1"	606320				10380929	Standard	NM_018898		Approved			Q9H158	OTTHUMG00000129603	ENST00000253807.2:c.1010C>T	5.37:g.140307487C>T	ENSP00000253807:p.Ala337Val					PCDHAC1_ENST00000409700.3_Missense_Mutation_p.A337V|PCDHA8_ENST00000531613.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA11_ENST00000398640.2_Intron	p.A337V	NM_018898.3	NP_061721.2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1010	+								Q9Y5F5|Q9Y5I5	Missense_Mutation	SNP	ENST00000253807.2	37	c.1010C>T	CCDS4241.1	.	.	.	.	.	.	.	.	.	.	C	7.841	0.722001	0.15372	.	.	ENSG00000248383	ENST00000409700;ENST00000253807	T;T	0.02085	4.46;4.46	5.91	1.02	0.19986	Cadherin (3);Cadherin conserved site (1);Cadherin-like (1);	.	.	.	.	T	0.02767	0.0083	L	0.60067	1.865	0.09310	N	0.999999	B;P	0.35192	0.238;0.489	B;B	0.36289	0.126;0.221	T	0.41910	-0.9482	9	0.42905	T	0.14	.	2.3287	0.04229	0.2152:0.4761:0.116:0.1926	.	337;337	Q9H158;Q9H158-2	PCDC1_HUMAN;.	V	337	ENSP00000386356:A337V;ENSP00000253807:A337V	ENSP00000253807:A337V	A	+	2	0	PCDHAC1	140287671	0.000000	0.05858	0.233000	0.24025	0.379000	0.30106	0.745000	0.26259	0.099000	0.17552	0.462000	0.41574	GCC		0.532	PCDHAC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251798.1	NM_018898		5	186	0	0	0	0.038147	0	5	186					T	140307487	C	T	140307487	3	4	171	1	0	0	0	0	1	0	0	0	11532	739	26	3	1012	3	PCDHAC1	5	140307487	Missense_Mutation	SNP	C	TCGA-G9-6371-01A-11D-1786-08	367576	140307487	40607773	11	8121											
UIMC1	51720	broad.mit.edu	37	chr5	176396017	176396017	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtgtccccgctaccctggaCagctttgagaaaagcagaac	11	8	10	12	1	0	2	0	1	0	2	1	4	1	3	3	1	4	3	3	1	4	2			TCGA-G9-6371-01A-11D-1786-08	TCGA-G9-6371-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65af285-c62e-40df-9f49-f0812e33dcfa	1d2cf02e-fd49-43d8-b55f-b3a799069f5b	g.chr5:176396017C>A	ENST00000377227.4	-	6	871	c.739G>T	c.(739-741)Gtc>Ttc	p.V247F	UIMC1_ENST00000511320.1_Missense_Mutation_p.V247F|UIMC1_ENST00000503273.1_5'Flank|UIMC1_ENST00000377219.2_Missense_Mutation_p.V247F|UIMC1_ENST00000506128.1_Intron			Q96RL1	UIMC1_HUMAN	ubiquitin interaction motif containing 1	247				V -> C (in Ref. 3; AAG59851). {ECO:0000305}.	double-strand break repair (GO:0006302)|G2 DNA damage checkpoint (GO:0031572)|histone H2A K63-linked deubiquitination (GO:0070537)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of DNA repair (GO:0045739)|response to ionizing radiation (GO:0010212)|transcription, DNA-templated (GO:0006351)	BRCA1-A complex (GO:0070531)|nucleus (GO:0005634)	histone binding (GO:0042393)|K63-linked polyubiquitin binding (GO:0070530)	p.V247F(1)		NS(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(5)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	21	all_cancers(89;7.96e-05)|Renal(175;0.000269)|Lung NSC(126;0.00476)|all_lung(126;0.00806)	Medulloblastoma(196;0.0145)|all_neural(177;0.0325)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CTACCCTGGACAGCTTTGAGA	0.527																																						ENST00000377219.2																			1	Substitution - Missense(1)	p.V247F(1)	prostate(1)	NS(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(5)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	21						c.(739-741)Gtc>Ttc		ubiquitin interaction motif containing 1							121	128	126					5																	176396017		2203	4300	6503	SO:0001583	missense	51720				double-strand break repair|G2/M transition DNA damage checkpoint|histone H2A K63-linked deubiquitination|negative regulation of transcription, DNA-dependent|positive regulation of DNA repair|response to ionizing radiation|transcription, DNA-dependent	BRCA1-A complex	histone binding|K63-linked polyubiquitin binding	g.chr5:176396017C>A	AF349313	CCDS4408.1	5q35.2	2008-02-05			ENSG00000087206	ENSG00000087206			30298	protein-coding gene	gene with protein product	"receptor associated protein 80"	609433				12080054	Standard	NM_001199297		Approved	RAP80	uc021yin.1	Q96RL1	OTTHUMG00000130852	ENST00000377227.4:c.739G>T	5.37:g.176396017C>A	ENSP00000366434:p.Val247Phe					UIMC1_ENST00000511320.1_Missense_Mutation_p.V247F|UIMC1_ENST00000377227.4_Missense_Mutation_p.V247F|UIMC1_ENST00000506128.1_Intron	p.V247F	NM_016290.4	NP_057374.3	Q96RL1	UIMC1_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		6	905	-	all_cancers(89;7.96e-05)|Renal(175;0.000269)|Lung NSC(126;0.00476)|all_lung(126;0.00806)	Medulloblastoma(196;0.0145)|all_neural(177;0.0325)	247	V -> C (in Ref. 3; AAG59851).				A8MSA1|B3KMZ1|B4E3N2|Q5XKQ1|Q7Z3W7|Q8N5B9|Q9BZR1|Q9BZR5|Q9UHX7	Missense_Mutation	SNP	ENST00000377227.4	37	c.739G>T	CCDS4408.1	.	.	.	.	.	.	.	.	.	.	C	6.142	0.394411	0.11638	.	.	ENSG00000087206	ENST00000377227;ENST00000377219;ENST00000511320;ENST00000377220	T;T;T	0.15834	2.39;2.39;2.39	5.17	-0.622	0.11560	.	0.627605	0.15753	N	0.246303	T	0.11067	0.0270	L	0.34521	1.04	0.09310	N	0.999998	B;P	0.35656	0.32;0.514	B;B	0.38056	0.081;0.264	T	0.18335	-1.0340	10	0.62326	D	0.03	1.313	2.9106	0.05736	0.4923:0.27:0.1432:0.0945	.	247;169	Q96RL1;Q96RL1-3	UIMC1_HUMAN;.	F	247;247;247;169	ENSP00000366434:V247F;ENSP00000366425:V247F;ENSP00000421926:V247F	ENSP00000366425:V247F	V	-	1	0	UIMC1	176328623	0.393000	0.25237	0.700000	0.30305	0.315000	0.28087	0.416000	0.21198	-0.003000	0.14444	-0.169000	0.13324	GTC		0.527	UIMC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253422.1	NM_016290		6	145	1	0	3.59834e-05	0.021553	4.318e-05	6	145					A	176396017	C	A	176396017	3	1	171	1	0	0	0	0	1	0	0	0	16968	478	17	5	1460	5	UIMC1	5	176396017	Missense_Mutation	SNP	C	TCGA-G9-6371-01A-11D-1786-08	36088530	176396017	4519243	12	8122											
EXOC2	55770	broad.mit.edu	37	chr6	491185	491185	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagcacagatttcaagtctcGcctgaaaatgagaaaaagac	18	7	8	8	1	2	4	1	2	1	3	3	5	2	4	1	0	1	1	1	0	6	1			TCGA-G9-6371-01A-11D-1786-08	TCGA-G9-6371-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65af285-c62e-40df-9f49-f0812e33dcfa	1d2cf02e-fd49-43d8-b55f-b3a799069f5b	g.chr6:491185G>A	ENST00000230449.4	-	26	2696	c.2561C>T	c.(2560-2562)gCg>gTg	p.A854V	EXOC2_ENST00000448181.3_Splice_Site_p.A449V	NM_018303.5	NP_060773.3	Q96KP1	EXOC2_HUMAN	exocyst complex component 2	854					cellular protein metabolic process (GO:0044267)|exocytosis (GO:0006887)|Golgi to plasma membrane transport (GO:0006893)|membrane organization (GO:0061024)|protein transport (GO:0015031)	exocyst (GO:0000145)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886)		p.A854V(1)		breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|liver(1)|lung(16)|ovary(4)|pancreas(1)|prostate(2)	46	Ovarian(93;0.0733)	Breast(5;0.0014)|all_lung(73;0.0697)|all_hematologic(90;0.0897)		OV - Ovarian serous cystadenocarcinoma(45;0.0507)|BRCA - Breast invasive adenocarcinoma(62;0.14)		TTCAAGTCTCGCCTGAAAATG	0.393																																						ENST00000230449.4																			1	Substitution - Missense(1)	p.A854V(1)	prostate(1)	breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|liver(1)|lung(16)|ovary(4)|pancreas(1)|prostate(2)	46						c.e26-1		exocyst complex component 2							115	116	116					6																	491185		2203	4300	6503	SO:0001630	splice_region_variant	55770				exocytosis|protein transport			g.chr6:491185G>A	AJ420556	CCDS34327.1	6p25.3	2013-01-22	2005-11-01	2005-11-01	ENSG00000112685	ENSG00000112685			24968	protein-coding gene	gene with protein product		615329	"SEC5-like 1 (S. cerevisiae)"	SEC5L1		12575951, 12459492	Standard	NM_018303		Approved	FLJ11026, Sec5p	uc003mtd.4	Q96KP1	OTTHUMG00000137437	ENST00000230449.4:c.2560-1C>T	6.37:g.491185G>A						EXOC2_ENST00000448181.3_Splice_Site_p.A449_splice	p.A854_splice	NM_018303.4	NP_060773.3	Q96KP1	EXOC2_HUMAN		OV - Ovarian serous cystadenocarcinoma(45;0.0507)|BRCA - Breast invasive adenocarcinoma(62;0.14)	26	2696	-	Ovarian(93;0.0733)	Breast(5;0.0014)|all_lung(73;0.0697)|all_hematologic(90;0.0897)	854					B2RBE6|Q5JPC8|Q96AN6|Q9NUZ8|Q9UJM7	Splice_Site	SNP	ENST00000230449.4	37	c.2559_splice	CCDS34327.1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.255333	0.80135	.	.	ENSG00000112685	ENST00000230449;ENST00000448181	T;T	0.50548	0.74;0.74	5.77	5.77	0.91146	.	0.046488	0.85682	D	0.000000	T	0.63082	0.2481	M	0.78049	2.395	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.55872	-0.8072	10	0.18710	T	0.47	-15.6239	20.0027	0.97425	0.0:0.0:1.0:0.0	.	854	Q96KP1	EXOC2_HUMAN	V	854;449	ENSP00000230449:A854V;ENSP00000398113:A449V	ENSP00000230449:A854V	A	-	2	0	EXOC2	436185	1.000000	0.71417	0.972000	0.41901	0.329000	0.28539	9.298000	0.96132	2.722000	0.93159	0.637000	0.83480	GCG		0.393	EXOC2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039627.1	NM_018303	Missense_Mutation	28	130	0	0	0	0.116897	0	28	130					A	491185	G	A	491185	5	1	171	1	0	0	0	0	0	0	1	0	5302	1101	38	1	225	1	EXOC2	6	491185	Splice_Site	SNP	G	TCGA-G9-6371-01A-11D-1786-08		491185	170623882	13	8123											
TUBB2B	347733	broad.mit.edu	37	chr6	3226894	3226894	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cccatgctcatcactgatgaCctcccaaaactgagacagaa	14	7	6	14	0	2	4	2	3	0	2	3	5	3	4	3	0	2	1	3	0	3	0			TCGA-G9-6371-01A-11D-1786-08	TCGA-G9-6371-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65af285-c62e-40df-9f49-f0812e33dcfa	1d2cf02e-fd49-43d8-b55f-b3a799069f5b	g.chr6:3226894C>A	ENST00000259818.7	-	2	258	c.67G>T	c.(67-69)Gtc>Ttc	p.V23F	TUBB2B_ENST00000473006.1_5'UTR	NM_178012.4	NP_821080.1	Q9BVA1	TBB2B_HUMAN	tubulin, beta 2B class IIb	23					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|microtubule-based process (GO:0007017)|neuron migration (GO:0001764)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)	p.V23F(1)		kidney(2)|large_intestine(5)|lung(1)|prostate(1)|skin(1)	10	Ovarian(93;0.0386)	all_hematologic(90;0.108)				TCACTGATGACCTCCCAAAAC	0.498																																						ENST00000259818.7																			1	Substitution - Missense(1)	p.V23F(1)	prostate(1)	kidney(2)|large_intestine(5)|lung(1)|prostate(1)|skin(1)	10						c.(67-69)Gtc>Ttc		tubulin, beta 2B class IIb							142	132	135					6																	3226894		2203	4300	6503	SO:0001583	missense	347733				'de novo' posttranslational protein folding|microtubule-based movement|neuron migration|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity	g.chr6:3226894C>A	BC001352	CCDS4485.1	6p25.2	2011-10-10	2011-10-10		ENSG00000137285	ENSG00000137285		"Tubulins"	30829	protein-coding gene	gene with protein product	"class IIb beta-tubulin"	612850	"tubulin, beta 2B"			8619474, 9110174	Standard	NM_178012		Approved	MGC8685, DKFZp566F223, bA506K6.1	uc003mvg.3	Q9BVA1	OTTHUMG00000014143	ENST00000259818.7:c.67G>T	6.37:g.3226894C>A	ENSP00000259818:p.Val23Phe					TUBB2B_ENST00000473006.1_5'UTR	p.V23F	NM_178012.4	NP_821080.1	Q9BVA1	TBB2B_HUMAN			2	258	-	Ovarian(93;0.0386)	all_hematologic(90;0.108)	23					A8K068	Missense_Mutation	SNP	ENST00000259818.7	37	c.67G>T	CCDS4485.1	.	.	.	.	.	.	.	.	.	.	C	24.4	4.528838	0.85706	.	.	ENSG00000137285	ENST00000259818	T	0.70516	-0.49	5.14	5.14	0.70334	Tubulin/FtsZ, GTPase domain (3);	0.000000	0.56097	D	0.000032	D	0.85978	0.5823	M	0.91612	3.225	0.80722	D	1	P;B	0.42584	0.784;0.362	P;D	0.63192	0.825;0.912	D	0.88357	0.2985	10	0.87932	D	0	.	18.6193	0.91316	0.0:1.0:0.0:0.0	.	23;23	Q8IZ29;Q9BVA1	.;TBB2B_HUMAN	F	23	ENSP00000259818:V23F	ENSP00000259818:V23F	V	-	1	0	TUBB2B	3171893	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.668000	0.83897	2.401000	0.81631	0.561000	0.74099	GTC		0.498	TUBB2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039680.2	NM_178012		15	158	1	0	2.31682e-05	0.132662	2.82363e-05	15	158					A	3226894	C	A	3226894	3	1	171	1	0	0	0	0	1	0	0	0	16752	507	18	5	1282	5	TUBB2B	6	3226894	Missense_Mutation	SNP	C	TCGA-G9-6371-01A-11D-1786-08	2735709	3226894	167888173	14	8124											
PGM3	5238	broad.mit.edu	37	chr6	83898366	83898366	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caataactacaaaggcatctTgttgcagattcacagcttct	13	12	6	10	0	3	1	1	0	2	1	3	1	3	1	0	1	4	4	0	1	4	6			TCGA-G9-6371-01A-11D-1786-08	TCGA-G9-6371-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65af285-c62e-40df-9f49-f0812e33dcfa	1d2cf02e-fd49-43d8-b55f-b3a799069f5b	g.chr6:83898366T>A	ENST00000283977.4	-	2	239	c.113A>T	c.(112-114)cAa>cTa	p.Q38L	PGM3_ENST00000506587.1_Missense_Mutation_p.Q147L|PGM3_ENST00000512866.1_Missense_Mutation_p.Q119L|PGM3_ENST00000513973.1_Missense_Mutation_p.Q119L					phosphoglucomutase 3									p.Q119L(1)		NS(1)|breast(1)|endometrium(2)|large_intestine(4)|lung(6)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	18		all_cancers(76;0.000504)|Acute lymphoblastic leukemia(125;3.85e-06)|all_hematologic(105;0.0017)|all_epithelial(107;0.068)		BRCA - Breast invasive adenocarcinoma(397;0.0478)		AAAGGCATCTTGTTGCAGATT	0.398																																						ENST00000513973.1																			1	Substitution - Missense(1)	p.Q119L(1)	prostate(1)	NS(1)|breast(1)|endometrium(2)|large_intestine(4)|lung(6)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	18						c.(355-357)cAa>cTa		phosphoglucomutase 3							149	126	134					6																	83898366		2203	4300	6503	SO:0001583	missense	5238				dolichol-linked oligosaccharide biosynthetic process|embryo development ending in birth or egg hatching|glucose 1-phosphate metabolic process|hemopoiesis|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process	cytosol	magnesium ion binding|phosphoacetylglucosamine mutase activity|phosphoglucomutase activity	g.chr6:83898366T>A	BC001258	CCDS4997.1, CCDS56435.1, CCDS56436.1, CCDS75487.1	6q14.1-q15	2012-10-02			ENSG00000013375	ENSG00000013375	5.4.2.3		8907	protein-coding gene	gene with protein product	"acetylglucosamine phosphomutase"	172100				12174217, 10721701	Standard	NM_001199917		Approved	AGM1, DKFZP434B187, PAGM	uc011dyz.2	O95394	OTTHUMG00000015110	ENST00000283977.4:c.113A>T	6.37:g.83898366T>A	ENSP00000283977:p.Gln38Leu					PGM3_ENST00000512866.1_Missense_Mutation_p.Q119L|PGM3_ENST00000506587.1_Missense_Mutation_p.Q147L|PGM3_ENST00000283977.4_Missense_Mutation_p.Q38L	p.Q119L	NM_001199918.1|NM_015599.2	NP_001186847.1|NP_056414.1	O95394	AGM1_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.0478)	3	472	-		all_cancers(76;0.000504)|Acute lymphoblastic leukemia(125;3.85e-06)|all_hematologic(105;0.0017)|all_epithelial(107;0.068)	119						Missense_Mutation	SNP	ENST00000283977.4	37	c.356A>T		.	.	.	.	.	.	.	.	.	.	T	9.066	0.995604	0.19043	.	.	ENSG00000013375	ENST00000513973;ENST00000512866;ENST00000283977;ENST00000506587;ENST00000510258;ENST00000507554;ENST00000508748	T;T;T;T;T;T	0.63913	-0.07;-0.07;-0.07;-0.07;-0.07;-0.07	5.82	5.82	0.92795	Alpha-D-phosphohexomutase, alpha/beta/alpha domain I (1);Alpha-D-phosphohexomutase, alpha/beta/alpha I/II/III (2);	0.204155	0.52532	D	0.000074	T	0.35335	0.0928	L	0.33624	1.015	0.45791	D	0.998671	B;B;B	0.11235	0.004;0.003;0.002	B;B;B	0.16289	0.015;0.012;0.01	T	0.28681	-1.0036	10	0.15952	T	0.53	-41.8688	16.1685	0.81786	0.0:0.0:0.0:1.0	.	147;147;119	E9PF86;B4DX94;O95394	.;.;AGM1_HUMAN	L	119;119;38;147;38;119;147	ENSP00000424874:Q119L;ENSP00000421565:Q119L;ENSP00000283977:Q38L;ENSP00000425809:Q147L;ENSP00000427420:Q38L;ENSP00000425558:Q119L	ENSP00000283977:Q38L	Q	-	2	0	PGM3	83955085	1.000000	0.71417	0.857000	0.33713	0.004000	0.04260	3.198000	0.51035	2.225000	0.72522	0.528000	0.53228	CAA		0.398	PGM3-003	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000366385.2	NM_015599		5	81	0	0	0	0.038147	0	5	81					A	83898366	T	A	83898366	3	1	171	1	0	0	0	0	1	0	0	0	11800	1812	63	5	1316	5	PGM3	6	83898366	Missense_Mutation	SNP	T	TCGA-G9-6371-01A-11D-1786-08	80671472	83898366	87216701	15	8125											
HGF	3082	broad.mit.edu	37	chr7	81346562	81346562	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acttacaacgagaaatagggCaataatcccaaggaatgagt	18	7	9	7	1	0	2	0	1	0	1	1	4	1	3	1	2	2	1	1	2	8	3			TCGA-G9-6371-01A-11D-1786-08	TCGA-G9-6371-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65af285-c62e-40df-9f49-f0812e33dcfa	1d2cf02e-fd49-43d8-b55f-b3a799069f5b	g.chr7:81346562C>T	ENST00000222390.5	-	11	1617	c.1391G>A	c.(1390-1392)tGc>tAc	p.C464Y	HGF_ENST00000457544.2_Missense_Mutation_p.C459Y	NM_000601.4	NP_000592.3	P14210	HGF_HUMAN	hepatocyte growth factor (hepapoietin A; scatter factor)	464	Kringle 4. {ECO:0000255|PROSITE- ProRule:PRU00121}.				activation of MAPK activity (GO:0000187)|blood coagulation (GO:0007596)|cell chemotaxis (GO:0060326)|cellular response to hepatocyte growth factor stimulus (GO:0035729)|epithelial to mesenchymal transition (GO:0001837)|hepatocyte growth factor receptor signaling pathway (GO:0048012)|hyaluronan metabolic process (GO:0030212)|liver development (GO:0001889)|mitotic nuclear division (GO:0007067)|myoblast proliferation (GO:0051450)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of hydrogen peroxide-mediated programmed cell death (GO:1901299)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|organ regeneration (GO:0031100)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive chemotaxis (GO:0050918)|positive regulation of cell migration (GO:0030335)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling (GO:0060665)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|platelet alpha granule lumen (GO:0031093)	catalytic activity (GO:0003824)|chemoattractant activity (GO:0042056)|growth factor activity (GO:0008083)|identical protein binding (GO:0042802)	p.C464Y(1)		NS(2)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(41)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	75						AGAAATAGGGCAATAATCCCA	0.383																																						ENST00000222390.5																			1	Substitution - Missense(1)	p.C464Y(1)	prostate(1)	NS(2)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(41)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	75						c.(1390-1392)tGc>tAc		hepatocyte growth factor (hepapoietin A; scatter factor)							193	156	168					7																	81346562		2203	4300	6503	SO:0001583	missense	3082				epithelial to mesenchymal transition|mitosis|platelet activation|platelet degranulation|proteolysis|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling	platelet alpha granule lumen	growth factor activity|serine-type endopeptidase activity	g.chr7:81346562C>T		CCDS5597.1, CCDS47626.1, CCDS47627.1, CCDS47628.1, CCDS47629.1	7q21.1	2009-09-11			ENSG00000019991	ENSG00000019991			4893	protein-coding gene	gene with protein product	"hepatopoietin A", "fibroblast-derived tumor cytotoxic factor", "scatter factor", "lung fibroblast-derived mitogen"	142409	"deafness, autosomal recessive 39"	DFNB39		1837206, 19576567	Standard	XM_006715956		Approved	SF, F-TCF, HGFB, HPTA	uc003uhl.3	P14210	OTTHUMG00000023804	ENST00000222390.5:c.1391G>A	7.37:g.81346562C>T	ENSP00000222390:p.Cys464Tyr					HGF_ENST00000457544.2_Missense_Mutation_p.C459Y	p.C464Y	NM_000601.4	NP_000592.3	P14210	HGF_HUMAN			11	1617	-			464			Kringle 4.		A1L3U6|Q02935|Q13494|Q14519|Q3KRB2|Q8TCE2|Q9BYL9|Q9BYM0|Q9UDU6	Missense_Mutation	SNP	ENST00000222390.5	37	c.1391G>A	CCDS5597.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.205176	0.79127	.	.	ENSG00000019991	ENST00000222390;ENST00000457544	D;D	0.93906	-3.31;-3.31	6.02	6.02	0.97574	Kringle (4);Kringle-like fold (1);	0.000000	0.85682	D	0.000000	D	0.98372	0.9459	H	0.98466	4.24	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.87578	0.997;0.998	D	0.98863	1.0763	10	0.87932	D	0	.	20.547	0.99278	0.0:1.0:0.0:0.0	.	459;464	P14210-3;P14210	.;HGF_HUMAN	Y	464;459	ENSP00000222390:C464Y;ENSP00000391238:C459Y	ENSP00000222390:C464Y	C	-	2	0	HGF	81184498	1.000000	0.71417	0.984000	0.44739	0.954000	0.61252	6.690000	0.74567	2.850000	0.98022	0.650000	0.86243	TGC		0.383	HGF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253315.2	NM_000601		8	72	0	0	0	0.047766	0	8	72					T	81346562	C	T	81346562	3	4	171	1	0	0	0	0	1	0	0	0	7085	710	25	3	827	3	HGF	7	81346562	Missense_Mutation	SNP	C	TCGA-G9-6371-01A-11D-1786-08		81346562	77792101	16	8126											
HIPK2	28996	broad.mit.edu	37	chr7	139268747	139268747	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctggtgttgctggaggagtcGgagtagggggagtcgtggac	6	9	21	5	2	0	0	0	0	0	0	2	5	0	5	0	7	1	3	0	7	1	2	rs536797243		TCGA-G9-6371-01A-11D-1786-08	TCGA-G9-6371-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65af285-c62e-40df-9f49-f0812e33dcfa	1d2cf02e-fd49-43d8-b55f-b3a799069f5b	g.chr7:139268747G>A	ENST00000406875.3	-	13	2875	c.2781C>T	c.(2779-2781)tcC>tcT	p.S927S	HIPK2_ENST00000428878.2_Silent_p.S900S|HIPK2_ENST00000342645.6_Silent_p.S827S	NM_022740.4	NP_073577.3	Q9H2X6	HIPK2_HUMAN	homeodomain interacting protein kinase 2	927	Interaction with TP53 and TP73.|Required for localization to nuclear speckles. {ECO:0000250}.				adult walking behavior (GO:0007628)|anterior/posterior pattern specification (GO:0009952)|cellular response to hypoxia (GO:0071456)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|erythrocyte differentiation (GO:0030218)|eye development (GO:0001654)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|iris morphogenesis (GO:0061072)|lens induction in camera-type eye (GO:0060235)|modulation by virus of host morphology or physiology (GO:0019048)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron differentiation (GO:0030182)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|PML body organization (GO:0030578)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA binding (GO:0043388)|positive regulation of JNK cascade (GO:0046330)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|protein phosphorylation (GO:0006468)|regulation of cell cycle (GO:0051726)|retina layer formation (GO:0010842)|SMAD protein signal transduction (GO:0060395)|smoothened signaling pathway (GO:0007224)|transforming growth factor beta receptor signaling pathway (GO:0007179)|voluntary musculoskeletal movement (GO:0050882)	cytoplasm (GO:0005737)|nuclear body (GO:0016604)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II transcription coactivator activity (GO:0001105)|SMAD binding (GO:0046332)|transcription corepressor activity (GO:0003714)|virion binding (GO:0046790)	p.S927S(1)		breast(4)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Melanoma(164;0.205)					TGGAGGAGTCGGAGTAGGGGG	0.547																																						ENST00000406875.3																			1	Substitution - coding silent(1)	p.S927S(1)	prostate(1)	breast(4)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						c.(2779-2781)tcC>tcT		homeodomain interacting protein kinase 2							107	118	114					7																	139268747		2121	4222	6343	SO:0001819	synonymous_variant	28996				apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|negative regulation of BMP signaling pathway|positive regulation of JNK cascade|positive regulation of transforming growth factor beta receptor signaling pathway|SMAD protein signal transduction|transcription, DNA-dependent|virus-host interaction	centrosome|nuclear membrane|PML body	ATP binding|protein serine/threonine kinase activity|SMAD binding|transcription corepressor activity|virion binding	g.chr7:139268747G>A	AF208291	CCDS75666.1, CCDS75667.1	7q32-q34	2004-01-29	2001-11-29		ENSG00000064393	ENSG00000064393			14402	protein-coding gene	gene with protein product		606868	"homeodomain-interacting protein kinase 2"			11120354	Standard	NM_001113239		Approved		uc003vvf.4	Q9H2X6	OTTHUMG00000157704	ENST00000406875.3:c.2781C>T	7.37:g.139268747G>A						HIPK2_ENST00000342645.6_Silent_p.S827S|HIPK2_ENST00000428878.2_Silent_p.S900S	p.S927S	NM_022740.4	NP_073577.3	Q9H2X6	HIPK2_HUMAN			13	2875	-	Melanoma(164;0.205)		927			Interaction with TP53 and TP73.|Required for localization to nuclear speckles (By similarity).		Q75MR7|Q8WWI4|Q9H2Y1	Silent	SNP	ENST00000406875.3	37	c.2781C>T																																																																																					0.547	HIPK2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000349430.3	NM_022740		4	87	0	0	0	0.009096	0	4	87					A	139268747	G	A	139268747	2	1	171	1	0	0	0	0	0	0	0	1	7117	1103	39	2		2	HIPK2	7	139268747	Silent	SNP	G	TCGA-G9-6371-01A-11D-1786-08	57922185	139268747	19869916	17	8127											
MGAM	8972	broad.mit.edu	37	chr7	141752697	141752697	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gacatctccttaaagtcttcCgtttatgccaatgccttccc	8	14	5	14	1	2	0	0	0	2	0	5	1	4	0	5	0	2	1	5	0	4	5	rs375312122		TCGA-G9-6371-01A-11D-1786-08	TCGA-G9-6371-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65af285-c62e-40df-9f49-f0812e33dcfa	1d2cf02e-fd49-43d8-b55f-b3a799069f5b	g.chr7:141752697C>T	ENST00000549489.2	+	26	3167	c.3072C>T	c.(3070-3072)tcC>tcT	p.S1024S	MGAM_ENST00000475668.2_Silent_p.S1024S	NM_004668.2	NP_004659.2	O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	1024					carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)	p.S1024S(4)		cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	TAAAGTCTTCCGTTTATGCCA	0.468																																						ENST00000475668.2																			4	Substitution - coding silent(4)	p.S1024S(4)	prostate(4)	cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13						c.(3070-3072)tcC>tcT		maltase-glucoamylase (alpha-glucosidase)	Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)						133	124	127					7																	141752697		1950	4148	6098	SO:0001819	synonymous_variant	8972				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity	g.chr7:141752697C>T	AF016833	CCDS47727.1	7q34	2012-10-03			ENSG00000257335	ENSG00000257335			7043	protein-coding gene	gene with protein product		154360				9446624	Standard	NM_004668		Approved	MGA	uc003vwy.3	O43451	OTTHUMG00000158395	ENST00000549489.2:c.3072C>T	7.37:g.141752697C>T						MGAM_ENST00000549489.2_Silent_p.S1024S	p.S1024S			O43451	MGA_HUMAN			26	3126	+	Melanoma(164;0.0272)		1024					Q0VAX6|Q75ME7|Q86UM5	Silent	SNP	ENST00000549489.2	37	c.3072C>T	CCDS47727.1																																																																																				0.468	MGAM-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000351244.3			7	112	0	0	0	0.038147	0	7	112					T	141752697	C	T	141752697	2	4	171	1	0	0	0	0	0	0	0	1	9541	639	23	2		2	MGAM	7	141752697	Silent	SNP	C	TCGA-G9-6371-01A-11D-1786-08	2483950	141752697	17385966	18	8128											
SLC4A2	6522	broad.mit.edu	37	chr7	150773232	150773232	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tcacagtgccgctccgcatgGtggtgctcacccgtatcttc	5	11	10	15	3	3	0	2	0	1	0	5	0	4	0	3	2	2	4	3	2	1	2			TCGA-G9-6371-01A-11D-1786-08	TCGA-G9-6371-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65af285-c62e-40df-9f49-f0812e33dcfa	1d2cf02e-fd49-43d8-b55f-b3a799069f5b	g.chr7:150773232G>A	ENST00000485713.1	+	22	4644	c.3604G>A	c.(3604-3606)Gtg>Atg	p.V1202M	SLC4A2_ENST00000461735.1_Missense_Mutation_p.V1188M|SLC4A2_ENST00000310317.5_Missense_Mutation_p.V1120M|SLC4A2_ENST00000392826.2_Missense_Mutation_p.V1193M|SLC4A2_ENST00000413384.2_Missense_Mutation_p.V1202M|RP11-148K1.12_ENST00000485974.1_RNA|FASTK_ENST00000489884.1_5'Flank	NM_001199692.1	NP_001186621.1	P04920	B3A2_HUMAN	solute carrier family 4 (anion exchanger), member 2	1202	Membrane (anion exchange).				anion transport (GO:0006820)|bicarbonate transport (GO:0015701)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	anion transmembrane transporter activity (GO:0008509)|chloride transmembrane transporter activity (GO:0015108)|inorganic anion exchanger activity (GO:0005452)	p.V1202M(1)		NS(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(14)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	33			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GCTCCGCATGGTGGTGCTCAC	0.627																																						ENST00000485713.1																			1	Substitution - Missense(1)	p.V1202M(1)	prostate(1)	NS(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(14)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	33						c.(3604-3606)Gtg>Atg		solute carrier family 4 (anion exchanger), member 2							127	125	126					7																	150773232		2203	4300	6503	SO:0001583	missense	6522				bicarbonate transport	integral to membrane|membrane fraction	inorganic anion exchanger activity	g.chr7:150773232G>A		CCDS5917.1, CCDS56520.1, CCDS56521.1	7q36.1	2013-07-19	2013-07-19		ENSG00000164889	ENSG00000164889		"Solute carriers"	11028	protein-coding gene	gene with protein product	"anion exchanger 2 type a", "anion exchanger 2 type b1", "anion exchanger 2 type b2"	109280	"erythrocyte membrane protein band 3-like 1", "solute carrier family 4, anion exchanger, member 2 (erythrocyte membrane protein band 3-like 1)"	EPB3L1, AE2		8434259	Standard	NM_003040		Approved	HKB3, BND3L, NBND3	uc003wit.4	P04920	OTTHUMG00000158443	ENST00000485713.1:c.3604G>A	7.37:g.150773232G>A	ENSP00000419412:p.Val1202Met					RP11-148K1.12_ENST00000485974.1_RNA|SLC4A2_ENST00000413384.2_Missense_Mutation_p.V1202M|SLC4A2_ENST00000310317.5_Missense_Mutation_p.V1120M|SLC4A2_ENST00000461735.1_Missense_Mutation_p.V1188M|SLC4A2_ENST00000392826.2_Missense_Mutation_p.V1193M	p.V1202M	NM_001199692.1	NP_001186621.1	P04920	B3A2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	22	4644	+			1202			Membrane (anion exchange).		B2R6T0|B4DIT0|D3DX05|F8W682|Q45EY5|Q969L3	Missense_Mutation	SNP	ENST00000485713.1	37	c.3604G>A	CCDS5917.1	.	.	.	.	.	.	.	.	.	.	G	15.57	2.873799	0.51695	.	.	ENSG00000164889	ENST00000485713;ENST00000413384;ENST00000310317;ENST00000392826;ENST00000461735	T;T;T;T;T	0.75477	-0.94;-0.94;-0.94;-0.94;-0.94	4.97	4.97	0.65823	.	0.143577	0.47852	N	0.000219	T	0.66538	0.2799	N	0.24115	0.695	0.42701	D	0.99361	B;P;P	0.39883	0.023;0.693;0.566	B;P;B	0.46585	0.037;0.521;0.321	T	0.65372	-0.6184	10	0.34782	T	0.22	.	10.7593	0.46256	0.0:0.0:0.7117:0.2883	.	1193;1188;1202	F8W682;P04920-2;P04920	.;.;B3A2_HUMAN	M	1202;1202;1120;1193;1188	ENSP00000419412:V1202M;ENSP00000405600:V1202M;ENSP00000311402:V1120M;ENSP00000376571:V1193M;ENSP00000419164:V1188M	ENSP00000311402:V1120M	V	+	1	0	SLC4A2	150404165	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.674000	0.54598	2.594000	0.87642	0.655000	0.94253	GTG		0.627	SLC4A2-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000351039.1	NM_003040		6	137	0	0	0	0.02938	0	6	137					A	150773232	G	A	150773232	3	1	171	1	0	0	0	0	1	0	0	0	14654	1261	44	3	3686	3	SLC4A2	7	150773232	Missense_Mutation	SNP	G	TCGA-G9-6371-01A-11D-1786-08	9020535	150773232	8365431	19	8129											
GPR120	338557	broad.mit.edu	37	chr10	95326921	95326921	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cacctgcagcgcggcgtgcgGggtcctgggcggcgggcgcg	2	4	21	14	8	0	0	0	0	0	0	1	0	1	0	2	6	3	1	2	6	0	0			TCGA-G9-6371-01A-11D-1786-08	TCGA-G9-6371-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65af285-c62e-40df-9f49-f0812e33dcfa	1d2cf02e-fd49-43d8-b55f-b3a799069f5b	g.chr10:95326921G>T	ENST00000371483.4	+	1	500	c.444G>T	c.(442-444)cgG>cgT	p.R148R	FFAR4_ENST00000371481.4_Silent_p.R148R|FFAR4_ENST00000604414.1_Silent_p.R148R	NM_181745.3	NP_859529.2	Q5NUL3	FFAR4_HUMAN	free fatty acid receptor 4	148					hormone secretion (GO:0046879)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cytokine secretion (GO:0050710)|negative regulation of inflammatory response (GO:0050728)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|regulation of glucose transport (GO:0010827)	endocytic vesicle (GO:0030139)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	fatty acid binding (GO:0005504)|taste receptor activity (GO:0008527)	p.R148R(1)									GCGGCGTGCGGGGTCCTGGGC	0.701																																						ENST00000371483.4																			1	Substitution - coding silent(1)	p.R148R(1)	prostate(1)								c.(442-444)cgG>cgT		free fatty acid receptor 4							12	13	13					10																	95326921		2188	4246	6434	SO:0001819	synonymous_variant	338557							g.chr10:95326921G>T		CCDS31248.1, CCDS55720.1	10q23.33	2012-11-16	2012-11-16	2012-11-16	ENSG00000186188	ENSG00000186188		"GPCR / Class A : Fatty acid receptors"	19061	protein-coding gene	gene with protein product		609044	"G protein-coupled receptor 129", "G protein-coupled receptor 120", "omega-3 fatty acid receptor 1"	GPR129, GPR120, O3FAR1		20471368, 19723586, 15619630, 20813258	Standard	NM_181745		Approved	PGR4	uc010qnt.2	Q5NUL3	OTTHUMG00000034409	ENST00000371483.4:c.444G>T	10.37:g.95326921G>T						FFAR4_ENST00000371481.4_Silent_p.R148R|FFAR4_ENST00000604414.1_Silent_p.R148R	p.R148R	NM_181745.3	NP_859529.2					1	500	+								Q495H1|Q5VY25|Q5VY26|Q7Z605|Q86SM7	Silent	SNP	ENST00000371483.4	37	c.444G>T	CCDS31248.1																																																																																				0.701	FFAR4-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000083179.1	NM_181745		4	14	1	0	1.23904e-05	0.014758	1.53405e-05	4	14					T	95326921	G	T	95326921	2	4	171	1	0	0	0	0	0	0	0	1	6636	1219	43	5		5	GPR120	10	95326921	Silent	SNP	G	TCGA-G9-6371-01A-11D-1786-08		95326921	40207826	20	8130											
CPXM2	119587	broad.mit.edu	37	chr10	125530493	125530493	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tacagcttcaggccctggtgGctttttccaatgttgtaaat	8	15	9	9	0	1	0	1	0	0	0	2	0	2	0	2	3	2	4	2	3	4	6			TCGA-G9-6371-01A-11D-1786-08	TCGA-G9-6371-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65af285-c62e-40df-9f49-f0812e33dcfa	1d2cf02e-fd49-43d8-b55f-b3a799069f5b	g.chr10:125530493G>T	ENST00000241305.3	-	8	1195	c.1041C>A	c.(1039-1041)agC>agA	p.S347R	CPXM2_ENST00000368854.3_5'UTR	NM_198148.2	NP_937791.2	Q8N436	CPXM2_HUMAN	carboxypeptidase X (M14 family), member 2	347					cell adhesion (GO:0007155)	extracellular space (GO:0005615)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)	p.S347R(1)		NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)	47		all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233)		COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237)		GGCCCTGGTGGCTTTTTCCAA	0.458																																						ENST00000241305.3																			1	Substitution - Missense(1)	p.S347R(1)	prostate(1)	NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)	47						c.(1039-1041)agC>agA		carboxypeptidase X (M14 family), member 2							276	284	282					10																	125530493		2203	4300	6503	SO:0001583	missense	119587				cell adhesion|proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding	g.chr10:125530493G>T	AY358565	CCDS7637.1	10q26	2012-02-10			ENSG00000121898	ENSG00000121898			26977	protein-coding gene	gene with protein product	"cytosolic carboxypeptidase"					12975309	Standard	NM_198148		Approved	UNQ676, CPX2	uc001lhk.1	Q8N436	OTTHUMG00000019206	ENST00000241305.3:c.1041C>A	10.37:g.125530493G>T	ENSP00000241305:p.Ser347Arg					CPXM2_ENST00000368854.3_5'UTR	p.S347R	NM_198148.2	NP_937791.2	Q8N436	CPXM2_HUMAN		COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237)	8	1195	-		all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233)	347					B4E3Q2	Missense_Mutation	SNP	ENST00000241305.3	37	c.1041C>A	CCDS7637.1	.	.	.	.	.	.	.	.	.	.	G	16.38	3.106093	0.56291	.	.	ENSG00000121898	ENST00000241305;ENST00000540123;ENST00000418782	T	0.31510	1.49	4.42	1.44	0.22558	Peptidase M14, carboxypeptidase A (2);	0.092185	0.64402	D	0.000001	T	0.64193	0.2576	H	0.96996	3.92	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.69928	-0.5012	10	0.87932	D	0	-6.1769	9.291	0.37786	0.3077:0.0:0.6923:0.0	.	347	Q8N436	CPXM2_HUMAN	R	347;180;347	ENSP00000241305:S347R	ENSP00000241305:S347R	S	-	3	2	CPXM2	125520483	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	2.017000	0.40981	0.471000	0.27319	-0.229000	0.12294	AGC		0.458	CPXM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050853.1	NM_198148		45	284	1	0	3.68427e-32	0.117977	4.87073e-32	45	284					T	125530493	G	T	125530493	3	4	171	1	0	0	0	0	1	0	0	0	3838	1194	42	5	1257	5	CPXM2	10	125530493	Missense_Mutation	SNP	G	TCGA-G9-6371-01A-11D-1786-08	30203572	125530493	10004254	21	8131											
OR5L2	26338	broad.mit.edu	37	chr11	55595260	55595260	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccctctcctaagtcttgcttGctctgatgtcactgtgaatg	6	15	8	12	0	4	2	1	2	3	0	5	2	4	2	2	0	2	2	2	0	2	3			TCGA-G9-6371-01A-11D-1786-08	TCGA-G9-6371-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65af285-c62e-40df-9f49-f0812e33dcfa	1d2cf02e-fd49-43d8-b55f-b3a799069f5b	g.chr11:55595260G>T	ENST00000378397.1	+	1	566	c.566G>T	c.(565-567)tGc>tTc	p.C189F		NM_001004739.1	NP_001004739.1	Q8NGL0	OR5L2_HUMAN	olfactory receptor, family 5, subfamily L, member 2	189						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.C189F(1)		breast(2)|kidney(1)|large_intestine(1)|lung(42)|ovary(1)|prostate(3)|skin(1)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	59		all_epithelial(135;0.208)				AGTCTTGCTTGCTCTGATGTC	0.448										HNSCC(27;0.073)																												ENST00000378397.1																			1	Substitution - Missense(1)	p.C189F(1)	prostate(1)	breast(2)|kidney(1)|large_intestine(1)|lung(42)|ovary(1)|prostate(3)|skin(1)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	59						c.(565-567)tGc>tTc		olfactory receptor, family 5, subfamily L, member 2							246	218	227					11																	55595260		2200	4296	6496	SO:0001583	missense	26338				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55595260G>T	AB065782	CCDS31511.1	11q11	2012-08-09			ENSG00000205030	ENSG00000205030		"GPCR / Class A : Olfactory receptors"	8351	protein-coding gene	gene with protein product						1370859	Standard	NM_001004739		Approved	HTPCRX16, HSHTPCRX16	uc001nhy.1	Q8NGL0	OTTHUMG00000166812	ENST00000378397.1:c.566G>T	11.37:g.55595260G>T	ENSP00000367650:p.Cys189Phe	HNSCC(27;0.073)					p.C189F	NM_001004739.1	NP_001004739.1	Q8NGL0	OR5L2_HUMAN			1	566	+		all_epithelial(135;0.208)	189					Q6IF66|Q96RB2	Missense_Mutation	SNP	ENST00000378397.1	37	c.566G>T	CCDS31511.1	.	.	.	.	.	.	.	.	.	.	.	14.27	2.484822	0.44147	.	.	ENSG00000205030	ENST00000378397	T	0.00460	7.27	5.24	5.24	0.73138	GPCR, rhodopsin-like superfamily (1);	0.000000	0.56097	D	0.000023	T	0.01976	0.0062	H	0.96720	3.87	0.51233	D	0.999918	P	0.35944	0.529	P	0.46585	0.521	T	0.01657	-1.1302	10	0.87932	D	0	-33.4366	17.8302	0.88680	0.0:0.0:1.0:0.0	.	189	Q8NGL0	OR5L2_HUMAN	F	189	ENSP00000367650:C189F	ENSP00000367650:C189F	C	+	2	0	OR5L2	55351836	1.000000	0.71417	1.000000	0.80357	0.264000	0.26372	4.939000	0.63526	2.617000	0.88574	0.632000	0.83419	TGC		0.448	OR5L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391516.1	NM_001004739		54	117	1	0	6.32628e-17	0.139131	8.22416e-17	54	117					T	55595260	G	T	55595260	3	4	171	1	0	0	0	0	1	0	0	0	11171	1319	46	5	568	5	OR5L2	11	55595260	Missense_Mutation	SNP	G	TCGA-G9-6371-01A-11D-1786-08		55595260	79411256	22	8132											
USP2	9099	broad.mit.edu	37	chr11	119243942	119243942	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttaccacccccagtgatgtcGggtctcagcagggggcggcc	6	7	14	14	2	1	1	1	1	1	0	3	1	1	1	4	4	2	1	4	4	1	1			TCGA-G9-6371-01A-11D-1786-08	TCGA-G9-6371-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65af285-c62e-40df-9f49-f0812e33dcfa	1d2cf02e-fd49-43d8-b55f-b3a799069f5b	g.chr11:119243942G>A	ENST00000260187.2	-	2	543	c.249C>T	c.(247-249)ccC>ccT	p.P83P	USP2_ENST00000455332.2_Intron|RP11-334E6.3_ENST00000530918.2_RNA	NM_004205.4	NP_004196.4	O75604	UBP2_HUMAN	ubiquitin specific peptidase 2	83	Necessary for interaction with MDM4.				cell cycle (GO:0007049)|muscle organ development (GO:0007517)|negative regulation of skeletal muscle tissue development (GO:0048642)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of skeletal muscle tissue development (GO:0048643)|protein deubiquitination (GO:0016579)|protein stabilization (GO:0050821)|ubiquitin-dependent protein catabolic process (GO:0006511)	cell cortex (GO:0005938)|centrosome (GO:0005813)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	cyclin binding (GO:0030332)|cysteine-type endopeptidase activity (GO:0004197)|metal ion binding (GO:0046872)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)	p.P83P(2)		breast(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1)	24		all_hematologic(192;4.65e-05)|Breast(348;0.0101)|all_neural(223;0.0218)|Medulloblastoma(222;0.0425)|Renal(330;0.157)		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.000513)|Colorectal(284;0.0116)|Lung(307;0.0853)|LUSC - Lung squamous cell carcinoma(976;0.0889)		CAGTGATGTCGGGTCTCAGCA	0.667																																						ENST00000260187.2																			2	Substitution - coding silent(2)	p.P83P(2)	prostate(2)	breast(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1)	24						c.(247-249)ccC>ccT		ubiquitin specific peptidase 2							55	63	60					11																	119243942		2199	4295	6494	SO:0001819	synonymous_variant	9099				cell cycle|muscle organ development|negative regulation of transcription from RNA polymerase II promoter|positive regulation of mitotic cell cycle|protein deubiquitination|protein stabilization|ubiquitin-dependent protein catabolic process	nucleus|perinuclear region of cytoplasm	cyclin binding|cysteine-type endopeptidase activity|metal ion binding|ubiquitin protein ligase binding|ubiquitin thiolesterase activity	g.chr11:119243942G>A	AF079564	CCDS8422.1, CCDS8423.1, CCDS58189.1	11q23.3	2008-02-05	2005-08-08			ENSG00000036672		"Ubiquitin-specific peptidases"	12618	protein-coding gene	gene with protein product		604725	"ubiquitin specific protease 2"			12838346	Standard	NM_004205		Approved	UBP41	uc001pwm.4	O75604		ENST00000260187.2:c.249C>T	11.37:g.119243942G>A						RP11-334E6.3_ENST00000530918.2_RNA|USP2_ENST00000455332.2_Intron	p.P83P	NM_004205.4	NP_004196.4	O75604	UBP2_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.000513)|Colorectal(284;0.0116)|Lung(307;0.0853)|LUSC - Lung squamous cell carcinoma(976;0.0889)	2	543	-		all_hematologic(192;4.65e-05)|Breast(348;0.0101)|all_neural(223;0.0218)|Medulloblastoma(222;0.0425)|Renal(330;0.157)	83			Necessary for interaction with MDM4.		B0YJB8|E9PPM2|Q8IUM2|Q8IW04|Q96MB9|Q9BQ21	Silent	SNP	ENST00000260187.2	37	c.249C>T	CCDS8422.1																																																																																				0.667	USP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388361.2	NM_171997		6	150	0	0	0	0.021553	0	6	150					A	119243942	G	A	119243942	2	1	171	1	0	0	0	0	0	0	0	1	17048	1103	39	2		2	USP2	11	119243942	Silent	SNP	G	TCGA-G9-6371-01A-11D-1786-08	63648682	119243942	15762574	23	8133											
KDM5A	5927	broad.mit.edu	37	chr12	417035	417035	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gctcacactgtagcataaacCcactggctgtcttgcggcaa	10	9	9	13	1	2	0	1	0	1	0	2	0	2	0	1	2	3	5	1	2	4	3			TCGA-G9-6371-01A-11D-1786-08	TCGA-G9-6371-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65af285-c62e-40df-9f49-f0812e33dcfa	1d2cf02e-fd49-43d8-b55f-b3a799069f5b	g.chr12:417035C>A	ENST00000399788.2	-	23	3877	c.3515G>T	c.(3514-3516)gGg>gTg	p.G1172V	KDM5A_ENST00000382815.4_Missense_Mutation_p.G1172V	NM_001042603.1	NP_001036068.1	P29375	KDM5A_HUMAN	lysine (K)-specific demethylase 5A	1172					chromatin modification (GO:0016568)|circadian regulation of gene expression (GO:0032922)|multicellular organismal development (GO:0007275)|negative regulation of histone deacetylase activity (GO:1901726)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)	p.G1172V(2)		NS(2)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(29)|ovary(1)|prostate(5)|skin(6)|stomach(1)|urinary_tract(2)	77						TAGCATAAACCCACTGGCTGT	0.463			T	NUP98	AML																																	ENST00000399788.2				Dom	yes		12	12p11	5927	T	"lysine (K)-specific demethylase 5A, JARID1A"			L	NUP98		AML		2	Substitution - Missense(2)	p.G1172V(2)	prostate(2)	NS(2)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(29)|ovary(1)|prostate(5)|skin(6)|stomach(1)|urinary_tract(2)	77						c.(3514-3516)gGg>gTg		lysine (K)-specific demethylase 5A							134	133	133					12																	417035		1994	4163	6157	SO:0001583	missense	5927				chromatin modification|multicellular organismal development|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleolus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr12:417035C>A		CCDS41736.1	12p13.33	2013-01-28	2009-04-06	2009-04-06	ENSG00000073614	ENSG00000073614		"Chromatin-modifying enzymes / K-demethylases", "Zinc fingers, PHD-type"	9886	protein-coding gene	gene with protein product		180202	"retinoblastoma-binding protein 2", "Jumonji, AT rich interactive domain 1A (RBBP2-like)", "jumonji, AT rich interactive domain 1A"	RBBP2, JARID1A		1857421	Standard	NM_001042603		Approved		uc001qif.1	P29375	OTTHUMG00000168055	ENST00000399788.2:c.3515G>T	12.37:g.417035C>A	ENSP00000382688:p.Gly1172Val					KDM5A_ENST00000382815.4_Missense_Mutation_p.G1172V	p.G1172V	NM_001042603.1	NP_001036068.1	P29375	KDM5A_HUMAN			23	3877	-			1172					A8MV76|Q4LE72|Q86XZ1	Missense_Mutation	SNP	ENST00000399788.2	37	c.3515G>T	CCDS41736.1	.	.	.	.	.	.	.	.	.	.	C	24.4	4.531646	0.85706	.	.	ENSG00000073614	ENST00000399788;ENST00000382815	D;D	0.88124	-2.34;-2.34	5.52	5.52	0.82312	Zinc finger, PHD-finger (2);Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, PHD-type, conserved site (1);Zinc finger, PHD-type (1);Zinc finger, FYVE/PHD-type (1);	0.000000	0.85682	D	0.000000	D	0.95053	0.8398	M	0.91972	3.26	0.80722	D	1	D;D	0.67145	0.996;0.996	D;D	0.70487	0.969;0.958	D	0.95543	0.8614	10	0.87932	D	0	-21.5163	19.7845	0.96430	0.0:1.0:0.0:0.0	.	1172;1172	P29375;P29375-2	KDM5A_HUMAN;.	V	1172	ENSP00000382688:G1172V;ENSP00000372265:G1172V	ENSP00000372265:G1172V	G	-	2	0	KDM5A	287296	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.776000	0.85560	2.744000	0.94065	0.585000	0.79938	GGG		0.463	KDM5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397812.1	NM_005056		11	137	1	0	6.40141e-05	0.080935	7.5653e-05	11	137					A	417035	C	A	417035	3	1	171	1	0	0	0	0	1	0	0	0	8133	623	22	5	1581	5	KDM5A	12	417035	Missense_Mutation	SNP	C	TCGA-G9-6371-01A-11D-1786-08		417035	133434860	24	8134											
GEFT	115557	broad.mit.edu	37	chr12	58004061	58004061	+	5'Flank	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gatactgggggtcatgggggGcatgctgcgcgcatgcgccc	5	7	18	11	3	1	0	1	0	0	0	1	1	1	0	1	5	4	3	1	5	1	1	rs375023885		TCGA-G9-6371-01A-11D-1786-08	TCGA-G9-6371-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65af285-c62e-40df-9f49-f0812e33dcfa	1d2cf02e-fd49-43d8-b55f-b3a799069f5b	g.chr12:58004061G>A	ENST00000286494.4	+	0	0				AC025165.8_ENST00000356672.3_RNA|AC025165.8_ENST00000444467.1_RNA|ARHGEF25_ENST00000333972.7_Missense_Mutation_p.G21D	NM_182947.3	NP_891992	Q86VW2	ARHGP_HUMAN	Rho guanine nucleotide exchange factor (GEF) 25							cytosol (GO:0005829)|myofibril (GO:0030016)|plasma membrane (GO:0005886)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.G21D(1)		breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	28						GTCATGGGGGGCATGCTGCGC	0.701																																						ENST00000333972.7																			1	Substitution - Missense(1)	p.G21D(1)	prostate(1)	breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	28						c.(61-63)gGc>gAc		Rho guanine nucleotide exchange factor (GEF) 25		G	ASP/GLY	0,2668		0,0,1334	9	11	10		62	2.9	1	12		10	1,6321		0,1,3160	no	missense	ARHGEF25	NM_001111270.1	94	0,1,4494	AA,AG,GG		0.0158,0.0,0.0111	benign	21/620	58004061	1,8989	1334	3161	4495	SO:0001631	upstream_gene_variant	115557				regulation of Rho protein signal transduction	cytosol|plasma membrane|sarcomere	Rho guanyl-nucleotide exchange factor activity	g.chr12:58004061G>A		CCDS8947.1, CCDS44931.1	12q13.3	2011-11-16			ENSG00000240771	ENSG00000240771		"Rho guanine nucleotide exchange factors"	30275	protein-coding gene	gene with protein product	"RAC/CDC42 exchange factor"	610215				12547822	Standard	NM_182947		Approved	GEFT, p63RhoGEF	uc009zpy.4	Q86VW2	OTTHUMG00000152516		12.37:g.58004061G>A	Exception_encountered						p.G21D	NM_001111270.2	NP_001104740.1	Q86VW2	ARHGP_HUMAN			1	99	+			0					A6NJH5|A9CQZ6|F8W7Z4|Q8WV84|Q96E63	Missense_Mutation	SNP	ENST00000286494.4	37	c.62G>A	CCDS8947.1	.	.	.	.	.	.	.	.	.	.	g	14.35	2.510681	0.44660	0.0	1.58E-4	ENSG00000240771	ENST00000333972	T	0.61627	0.09	2.94	2.94	0.34122	.	.	.	.	.	T	0.33760	0.0874	N	0.14661	0.345	0.80722	D	1	P	0.44946	0.846	B	0.37550	0.253	T	0.06917	-1.0800	9	0.23302	T	0.38	.	9.4924	0.38967	0.0:0.0:1.0:0.0	.	21	F8W7Z4	.	D	21	ENSP00000335560:G21D	ENSP00000335560:G21D	G	+	2	0	ARHGEF25	56290328	1.000000	0.71417	1.000000	0.80357	0.789000	0.44602	2.833000	0.48159	1.655000	0.50712	0.313000	0.20887	GGC		0.701	ARHGEF25-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000326561.1	NM_133483		4	29	0	0	0	0.021553	0	4	29					A	58004061	G	A	58004061	1	1	171	0	1	0	0	0	0	0	0	0	6328	1203	42	3		3	GEFT	12	58004061	5'Flank	SNP	G	TCGA-G9-6371-01A-11D-1786-08	57587026	58004061	75847834	25	8135											
SLC24A6	80024	broad.mit.edu	37	chr12	113748079	113748079	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggctgtcagatgtggcaaaaAaggtcactgaagccaaggct	13	7	13	8	0	2	2	2	1	0	1	2	2	2	2	1	4	1	3	1	4	5	0			TCGA-G9-6371-01A-11D-1786-08	TCGA-G9-6371-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65af285-c62e-40df-9f49-f0812e33dcfa	1d2cf02e-fd49-43d8-b55f-b3a799069f5b	g.chr12:113748079A>C	ENST00000552014.1	-	13	1732	c.1217T>G	c.(1216-1218)tTt>tGt	p.F406C	SLC8B1_ENST00000202831.3_Missense_Mutation_p.F406C|SLC8B1_ENST00000553238.1_5'UTR|SLC8B1_ENST00000550047.1_5'Flank|SLC8B1_ENST00000546737.1_Missense_Mutation_p.F350C			Q6J4K2	NCKX6_HUMAN	solute carrier family 8 (sodium/lithium/calcium exchanger), member B1	406					cytosolic calcium ion homeostasis (GO:0051480)|glucose homeostasis (GO:0042593)|ion transport (GO:0006811)|mitochondrial calcium ion homeostasis (GO:0051560)|mitochondrial calcium ion transport (GO:0006851)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of insulin secretion (GO:0050796)|response to stimulus (GO:0050896)|transmembrane transport (GO:0055085)	integral component of mitochondrial membrane (GO:0032592)|mitochondrial crista (GO:0030061)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)	calcium:sodium antiporter activity (GO:0005432)|calcium:sodium antiporter activity involved in regulation of cardiac muscle cell membrane potential (GO:0086038)|protein homodimerization activity (GO:0042803)	p.F406C(1)									TGTGGCAAAAAAGGTCACTGA	0.587																																						ENST00000552014.1																			1	Substitution - Missense(1)	p.F406C(1)	prostate(1)	breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(3)|skin(1)	16						c.(1216-1218)tTt>tGt									78	74	75					12																	113748079		2203	4300	6503	SO:0001583	missense	0				response to stimulus|sodium ion transport	integral to membrane|plasma membrane	calcium:cation antiporter activity	g.chr12:113748079A>C	AK025886	CCDS31909.1	12q24.13	2013-07-19	2013-07-19	2013-07-19	ENSG00000089060	ENSG00000089060		"Solute carriers"	26175	protein-coding gene	gene with protein product		609841	"solute carrier family 24 (sodium/potassium/calcium exchanger), member 6", "solute carrier family 24 (sodium/lithium/calcium exchanger), member 6"	SLC24A6		14625281, 23506867	Standard	NM_024959		Approved	FLJ22233, NCKX6, NCLX	uc001tvc.3	Q6J4K2	OTTHUMG00000169566	ENST00000552014.1:c.1217T>G	12.37:g.113748079A>C	ENSP00000447091:p.Phe406Cys					SLC24A6_ENST00000546737.1_Missense_Mutation_p.F350C|SLC24A6_ENST00000553238.1_5'UTR|SLC24A6_ENST00000202831.3_Missense_Mutation_p.F406C	p.F406C			Q6J4K2	NCKX6_HUMAN			13	1732	-			406					A6NP50|Q4KMS9|Q6J4K1|Q9H6I8	Missense_Mutation	SNP	ENST00000552014.1	37	c.1217T>G	CCDS31909.1	.	.	.	.	.	.	.	.	.	.	A	15.64	2.894024	0.52121	.	.	ENSG00000089060	ENST00000552014;ENST00000202831;ENST00000377458;ENST00000546737	T;T;T	0.63744	-0.03;-0.03;-0.06	5.24	5.24	0.73138	.	0.000000	0.85682	D	0.000000	T	0.78786	0.4338	M	0.83603	2.65	0.80722	D	1	D;P	0.76494	0.999;0.908	D;P	0.65987	0.94;0.596	T	0.79603	-0.1735	10	0.36615	T	0.2	.	15.1886	0.73025	1.0:0.0:0.0:0.0	.	406;111	Q6J4K2;B3KSP6	NCKX6_HUMAN;.	C	406;406;350;350	ENSP00000447091:F406C;ENSP00000202831:F406C;ENSP00000450081:F350C	ENSP00000202831:F406C	F	-	2	0	SLC24A6	112232462	1.000000	0.71417	0.979000	0.43373	0.006000	0.05464	7.098000	0.76974	1.989000	0.58080	0.454000	0.30748	TTT		0.587	SLC8B1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404830.3	NM_024959		5	82	0	0	0	0.014758	0	5	82					C	113748079	A	C	113748079	3	2	171	1	0	0	0	0	1	0	0	0	14470	14	1	5	557	5	SLC24A6	12	113748079	Missense_Mutation	SNP	A	TCGA-G9-6371-01A-11D-1786-08	55744018	113748079	20103816	26	8136											
GOLGA3	2802	broad.mit.edu	37	chr12	133351742	133351742	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtaccgtcttggccgcgccGcggcgtaggtccagcttgag	5	8	15	13	6	1	1	0	1	1	0	2	1	2	1	4	3	2	3	4	3	2	4	rs376953827		TCGA-G9-6371-01A-11D-1786-08	TCGA-G9-6371-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65af285-c62e-40df-9f49-f0812e33dcfa	1d2cf02e-fd49-43d8-b55f-b3a799069f5b	g.chr12:133351742G>A	ENST00000450791.2	-	21	4311	c.4128C>T	c.(4126-4128)cgC>cgT	p.R1376R	GOLGA3_ENST00000204726.3_Silent_p.R1376R|GOLGA3_ENST00000456883.2_Silent_p.R1376R			Q08378	GOGA3_HUMAN	golgin A3	1376					intra-Golgi vesicle-mediated transport (GO:0006891)	cytosol (GO:0005829)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extrinsic component of Golgi membrane (GO:0090498)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi transport complex (GO:0017119)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	transporter activity (GO:0005215)	p.R1376R(1)		breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06)		TGGCCGCGCCGCGGCGTAGGT	0.587													G|||	1	0.000199681	0	0	5008	,	,		16686	0		0	False		,,,				2504	0.001					ENST00000204726.3																			1	Substitution - coding silent(1)	p.R1376R(1)	prostate(1)	breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						c.(4126-4128)cgC>cgT		golgin A3		G		0,4406		0,0,2203	55	50	52		4128	-9.6	0	12		52	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	GOLGA3	NM_005895.3		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		1376/1499	133351742	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	2802				intra-Golgi vesicle-mediated transport	Golgi cisterna membrane|Golgi transport complex	protein binding|transporter activity	g.chr12:133351742G>A	AF485338	CCDS9281.1, CCDS53846.1	12q24.33	2010-02-12	2010-02-12		ENSG00000090615	ENSG00000090615			4426	protein-coding gene	gene with protein product	"SY2/SY10 protein", "Golgi complex-associated protein of 170 kD"	602581	"golgi autoantigen, golgin subfamily a, 3"			8315394, 15829563	Standard	NM_001172557		Approved	golgin-160, GCP170, MEA-2	uc001ukz.1	Q08378	OTTHUMG00000168023	ENST00000450791.2:c.4128C>T	12.37:g.133351742G>A						GOLGA3_ENST00000456883.2_Silent_p.R1376R|GOLGA3_ENST00000450791.2_Silent_p.R1376R	p.R1376R	NM_005895.3	NP_005886.2	Q08378	GOGA3_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06)	22	4686	-	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)	1376					A5PKX6|O43241|Q6P9C7|Q86XW3|Q8TDA9|Q8WZA3	Silent	SNP	ENST00000450791.2	37	c.4128C>T	CCDS9281.1																																																																																				0.587	GOLGA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397569.2	NM_005895		6	57	0	0	0	0.02938	0	6	57					A	133351742	G	A	133351742	2	1	171	1	0	0	0	0	0	0	0	1	6554	1074	38	1		1	GOLGA3	12	133351742	Silent	SNP	G	TCGA-G9-6371-01A-11D-1786-08	19603663	133351742	500153	27	8137											
ITGBL1	9358	broad.mit.edu	37	chr13	102359193	102359193	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccgcggaagtgtaacatgaCggaagaacaaagcaagaatc	17	5	11	8	3	0	3	0	1	0	2	2	5	1	5	1	2	3	2	1	2	7	1			TCGA-G9-6371-01A-11D-1786-08	TCGA-G9-6371-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65af285-c62e-40df-9f49-f0812e33dcfa	1d2cf02e-fd49-43d8-b55f-b3a799069f5b	g.chr13:102359193C>T	ENST00000376180.3	+	9	1439	c.1220C>T	c.(1219-1221)aCg>aTg	p.T407M	ITGBL1_ENST00000545560.2_Missense_Mutation_p.T266M|ITGBL1_ENST00000376162.3_Missense_Mutation_p.T314M	NM_001271756.1|NM_004791.1	NP_001258685.1|NP_004782.1	O95965	ITGBL_HUMAN	integrin, beta-like 1 (with EGF-like repeat domains)	407	Cysteine-rich tandem repeats.				cell adhesion (GO:0007155)	extracellular region (GO:0005576)		p.T407M(1)		breast(1)|large_intestine(6)|lung(16)|ovary(1)|prostate(4)|skin(3)	31	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					TGTAACATGACGGAAGAACAA	0.517																																						ENST00000376180.3																			1	Substitution - Missense(1)	p.T407M(1)	prostate(1)	breast(1)|large_intestine(6)|lung(16)|ovary(1)|prostate(4)|skin(3)	31						c.(1219-1221)aCg>aTg		integrin, beta-like 1 (with EGF-like repeat domains)							178	149	158					13																	102359193		2203	4300	6503	SO:0001583	missense	9358				cell-matrix adhesion|integrin-mediated signaling pathway	extracellular region|integrin complex	binding|receptor activity	g.chr13:102359193C>T	AF072752	CCDS9499.1, CCDS61361.1, CCDS61362.1, CCDS73594.1	13q33	2008-07-18			ENSG00000198542	ENSG00000198542			6164	protein-coding gene	gene with protein product	"ten integrin EGF-like repeat domains protein", "ITGBL1, integrin beta-like 1"	604234				10051402	Standard	NM_004791		Approved	TIED, OSCP	uc001vpb.4	O95965	OTTHUMG00000017296	ENST00000376180.3:c.1220C>T	13.37:g.102359193C>T	ENSP00000365351:p.Thr407Met					ITGBL1_ENST00000376162.3_Missense_Mutation_p.T314M|ITGBL1_ENST00000545560.2_Missense_Mutation_p.T266M	p.T407M	NM_001271756.1|NM_004791.1	NP_001258685.1|NP_004782.1	O95965	ITGBL_HUMAN			9	1439	+	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		407			Cysteine-rich tandem repeats.		A8K5M5|B3KTP1|B4DQ02|Q8N172|Q9NPR0	Missense_Mutation	SNP	ENST00000376180.3	37	c.1220C>T	CCDS9499.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.329687	0.81690	.	.	ENSG00000198542	ENST00000376180;ENST00000537118;ENST00000539955;ENST00000545560;ENST00000376162	D;D;D	0.92858	-3.12;-3.12;-3.12	5.91	5.91	0.95273	.	0.042951	0.85682	D	0.000000	D	0.95472	0.8529	M	0.69823	2.125	0.51767	D	0.999933	D;D	0.89917	1.0;0.999	P;D	0.65010	0.877;0.931	D	0.93712	0.7025	10	0.33940	T	0.23	.	20.2789	0.98501	0.0:1.0:0.0:0.0	.	266;407	B3KTP1;O95965	.;ITGBL_HUMAN	M	407;315;266;266;314	ENSP00000365351:T407M;ENSP00000439903:T266M;ENSP00000365332:T314M	ENSP00000365332:T314M	T	+	2	0	ITGBL1	101157194	1.000000	0.71417	0.968000	0.41197	0.997000	0.91878	5.914000	0.69964	2.801000	0.96364	0.655000	0.94253	ACG		0.517	ITGBL1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045669.2	NM_004791		7	139	0	0	0	0.038147	0	7	139					T	102359193	C	T	102359193	3	4	171	1	0	0	0	0	1	0	0	0	7902	536	19	1	1254	1	ITGBL1	13	102359193	Missense_Mutation	SNP	C	TCGA-G9-6371-01A-11D-1786-08		102359193	12810685	28	8138											
GRK1	6011	broad.mit.edu	37	chr13	114324084	114324084	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ctatgcgtttgaaaccaaagCcgacctctgtctggtgatga	10	11	10	10	2	2	3	0	3	2	0	2	4	2	3	3	1	3	1	3	1	3	2			TCGA-G9-6371-01A-11D-1786-08	TCGA-G9-6371-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65af285-c62e-40df-9f49-f0812e33dcfa	1d2cf02e-fd49-43d8-b55f-b3a799069f5b	g.chr13:114324084C>G	ENST00000335678.6	+	2	1014	c.782C>G	c.(781-783)gCc>gGc	p.A261G		NM_002929.2	NP_002920.1	Q15835	RK_HUMAN	G protein-coupled receptor kinase 1	261	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				negative regulation of apoptotic process (GO:0043066)|photoreceptor cell morphogenesis (GO:0008594)|phototransduction, visible light (GO:0007603)|positive regulation of phosphorylation (GO:0042327)|post-embryonic retina morphogenesis in camera-type eye (GO:0060060)|protein autophosphorylation (GO:0046777)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|visual perception (GO:0007601)	photoreceptor disc membrane (GO:0097381)	ATP binding (GO:0005524)|G-protein coupled receptor kinase activity (GO:0004703)|protein kinase activity (GO:0004672)|rhodopsin kinase activity (GO:0050254)	p.A261G(1)		ovary(2)	2	Lung NSC(43;0.0113)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.00696)|all_epithelial(44;0.00347)|all_lung(25;0.0221)|Breast(118;0.0411)|Lung NSC(25;0.0839)	all cancers(43;0.234)			GAAACCAAAGCCGACCTCTGT	0.557																																						ENST00000335678.6																			1	Substitution - Missense(1)	p.A261G(1)	prostate(1)	ovary(2)	2						c.(781-783)gCc>gGc		G protein-coupled receptor kinase 1							154	156	156					13																	114324084		2047	4193	6240	SO:0001583	missense	6011				regulation of G-protein coupled receptor protein signaling pathway|rhodopsin mediated phototransduction|rhodopsin mediated signaling pathway	membrane	ATP binding|G-protein coupled receptor kinase activity|rhodopsin kinase activity|signal transducer activity	g.chr13:114324084C>G			13q34	2013-09-02	2004-03-23	2004-03-24	ENSG00000185974	ENSG00000185974	2.7.11.14		10013	protein-coding gene	gene with protein product		180381	"rhodopsin kinase"	RHOK		8812493, 15057823	Standard	NM_002929		Approved	GPRK1, RK	uc010tkf.2	Q15835	OTTHUMG00000185528	ENST00000335678.6:c.782C>G	13.37:g.114324084C>G	ENSP00000334876:p.Ala261Gly						p.A261G	NM_002929.2	NP_002920.1	Q15835	RK_HUMAN	all cancers(43;0.234)		2	1014	+	Lung NSC(43;0.0113)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.00696)|all_epithelial(44;0.00347)|all_lung(25;0.0221)|Breast(118;0.0411)|Lung NSC(25;0.0839)	261			Protein kinase.		Q53X14	Missense_Mutation	SNP	ENST00000335678.6	37	c.782C>G		.	.	.	.	.	.	.	.	.	.	c	11.09	1.537822	0.27475	.	.	ENSG00000185974	ENST00000335678	T	0.21543	2.0	4.36	3.51	0.40186	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.296644	0.36338	N	0.002644	T	0.15609	0.0376	.	.	.	0.25898	N	0.983395	B	0.19073	0.033	B	0.22880	0.042	T	0.17992	-1.0351	9	0.72032	D	0.01	-9.4033	5.6898	0.17823	0.1925:0.7037:0.0:0.1038	.	261	Q15835	RK_HUMAN	G	261	ENSP00000334876:A261G	ENSP00000334876:A261G	A	+	2	0	GRK1	113372085	0.005000	0.15991	0.280000	0.24747	0.338000	0.28826	0.741000	0.26202	0.945000	0.37605	0.511000	0.50034	GCC		0.557	GRK1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000470655.1	NM_002929		4	154	0	0	0	0.014758	0	4	154					G	114324084	C	G	114324084	3	3	171	1	0	0	0	0	1	0	0	0	6790	739	26	5	788	5	GRK1	13	114324084	Missense_Mutation	SNP	C	TCGA-G9-6371-01A-11D-1786-08	11964891	114324084	845794	29	8139											
ANG	283	broad.mit.edu	37	chr14	21161988	21161988	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaaacaagaatggaaaccctCacagagaaaacctaagaata	23	4	6	8	0	1	3	1	0	0	3	1	5	1	4	2	1	3	0	2	1	10	2			TCGA-G9-6371-01A-11D-1786-08	TCGA-G9-6371-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65af285-c62e-40df-9f49-f0812e33dcfa	1d2cf02e-fd49-43d8-b55f-b3a799069f5b	g.chr14:21161988C>T	ENST00000336811.6	+	2	865	c.265C>T	c.(265-267)Cac>Tac	p.H89Y	RNASE4_ENST00000555597.1_Intron|RNASE4_ENST00000397995.2_Intron|AL163636.6_ENST00000553909.1_Intron|ANG_ENST00000554073.1_Intron|RNASE4_ENST00000304704.4_Intron|RNASE4_ENST00000555835.1_Intron|ANG_ENST00000397990.4_Missense_Mutation_p.H89Y|RP11-903H12.3_ENST00000554286.1_RNA	NM_001145.4	NP_001136.1	P03950	ANGI_HUMAN	angiogenin, ribonuclease, RNase A family, 5	89					actin filament polymerization (GO:0030041)|activation of phospholipase A2 activity (GO:0032431)|activation of phospholipase C activity (GO:0007202)|activation of protein kinase B activity (GO:0032148)|angiogenesis (GO:0001525)|cell communication (GO:0007154)|cell death (GO:0008219)|cell migration (GO:0016477)|diacylglycerol biosynthetic process (GO:0006651)|homeostatic process (GO:0042592)|negative regulation of smooth muscle cell proliferation (GO:0048662)|negative regulation of translation (GO:0017148)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|oocyte maturation (GO:0001556)|ovarian follicle development (GO:0001541)|placenta development (GO:0001890)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein secretion (GO:0050714)|response to hormone (GO:0009725)|response to hypoxia (GO:0001666)|RNA phosphodiester bond hydrolysis (GO:0090501)|rRNA transcription (GO:0009303)	angiogenin-PRI complex (GO:0032311)|basal lamina (GO:0005605)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|neuronal cell body (GO:0043025)|nucleolus (GO:0005730)|nucleus (GO:0005634)	actin binding (GO:0003779)|copper ion binding (GO:0005507)|DNA binding (GO:0003677)|endonuclease activity (GO:0004519)|heparin binding (GO:0008201)|peptide binding (GO:0042277)|receptor binding (GO:0005102)|ribonuclease activity (GO:0004540)|rRNA binding (GO:0019843)	p.H89Y(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|ovary(1)|prostate(1)	5	all_cancers(95;0.00387)	all_cancers(140;0.196)|all_epithelial(140;0.156)	Epithelial(56;5.13e-07)|all cancers(55;4.73e-06)	OV - Ovarian serous cystadenocarcinoma(311;3.25e-17)|GBM - Glioblastoma multiforme(265;5.56e-07)		TGGAAACCCTCACAGAGAAAA	0.507																																						ENST00000336811.6																			1	Substitution - Missense(1)	p.H89Y(1)	prostate(1)	endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|ovary(1)|prostate(1)	5						c.(265-267)Cac>Tac		angiogenin, ribonuclease, RNase A family, 5							106	98	100					14																	21161988		2203	4300	6503	SO:0001583	missense	283				actin filament polymerization|activation of phospholipase A2 activity|activation of phospholipase C activity|activation of protein kinase B activity|angiogenesis|cell communication|cell death|cell migration|diacylglycerol biosynthetic process|homeostatic process|negative regulation of smooth muscle cell proliferation|negative regulation of translation|oocyte maturation|ovarian follicle development|placenta development|positive regulation of endothelial cell proliferation|positive regulation of phosphorylation|positive regulation of protein secretion|response to hormone stimulus|response to hypoxia|rRNA transcription	angiogenin-PRI complex|basal lamina|extracellular space|growth cone|neuronal cell body|nucleolus	actin binding|copper ion binding|heparin binding|pancreatic ribonuclease activity|peptide binding|receptor binding|rRNA binding	g.chr14:21161988C>T		CCDS9554.1	14q11.1-q11.2	2014-09-17			ENSG00000214274	ENSG00000214274	3.1.27.-	"Ribonucleases, RNase A"	483	protein-coding gene	gene with protein product		105850				1978563	Standard	NM_001145		Approved	RNASE5	uc001vxw.4	P03950	OTTHUMG00000029576	ENST00000336811.6:c.265C>T	14.37:g.21161988C>T	ENSP00000336762:p.His89Tyr					AL163636.6_ENST00000553909.1_RNA|RNASE4_ENST00000304704.4_Intron|RP11-903H12.3_ENST00000554286.1_lincRNA|RNASE4_ENST00000397995.2_Intron|RNASE4_ENST00000555835.1_Intron|ANG_ENST00000397990.4_Missense_Mutation_p.H89Y|RNASE4_ENST00000555597.1_Intron|ANG_ENST00000554073.1_Intron	p.H89Y	NM_001145.4	NP_001136.1	P03950	ANGI_HUMAN	Epithelial(56;5.13e-07)|all cancers(55;4.73e-06)	OV - Ovarian serous cystadenocarcinoma(311;3.25e-17)|GBM - Glioblastoma multiforme(265;5.56e-07)	2	865	+	all_cancers(95;0.00387)	all_cancers(140;0.196)|all_epithelial(140;0.156)	89					Q05CV1|Q53X86|Q6P5T2|Q8WXE7	Missense_Mutation	SNP	ENST00000336811.6	37	c.265C>T	CCDS9554.1	.	.	.	.	.	.	.	.	.	.	C	0.035	-1.311889	0.01342	.	.	ENSG00000214274	ENST00000336811;ENST00000397990	D;D	0.94046	-3.34;-3.34	4.97	-6.84	0.01687	Ribonuclease A, domain (4);	4.254030	0.01975	N	0.044418	T	0.62490	0.2432	N	0.00010	-3.02	0.19575	N	0.999966	B	0.10296	0.003	B	0.01281	0.0	T	0.72683	-0.4219	10	0.02654	T	1	.	10.8641	0.46844	0.0:0.682:0.1202:0.1978	.	89	P03950	ANGI_HUMAN	Y	89	ENSP00000336762:H89Y;ENSP00000381077:H89Y	ENSP00000336762:H89Y	H	+	1	0	ANG	20231828	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.784000	0.04633	-1.042000	0.03262	-1.076000	0.02234	CAC		0.507	ANG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073731.3	NM_001097577		4	65	0	0	0	0.014758	0	4	65					T	21161988	C	T	21161988	3	4	171	1	0	0	0	0	1	0	0	0	607	826	29	3	267	3	ANG	14	21161988	Missense_Mutation	SNP	C	TCGA-G9-6371-01A-11D-1786-08		21161988	86187552	30	8140											
ITPK1	3705	broad.mit.edu	37	chr14	93404856	93404856	+	3'UTR	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcttccagccttctataaagCacacttggcagtcccctggg	8	11	8	14	0	2	0	0	0	2	0	4	0	4	0	4	2	2	2	4	2	3	5			TCGA-G9-6371-01A-11D-1786-08	TCGA-G9-6371-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65af285-c62e-40df-9f49-f0812e33dcfa	1d2cf02e-fd49-43d8-b55f-b3a799069f5b	g.chr14:93404856C>T	ENST00000267615.6	-	0	4468				ITPK1_ENST00000354313.3_Missense_Mutation_p.C306Y			Q13572	ITPK1_HUMAN	inositol-tetrakisphosphate 1-kinase						blood coagulation (GO:0007596)|dephosphorylation (GO:0016311)|inositol phosphate metabolic process (GO:0043647)|inositol trisphosphate metabolic process (GO:0032957)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	ATP binding (GO:0005524)|catalytic activity (GO:0003824)|inositol tetrakisphosphate 1-kinase activity (GO:0047325)|inositol-1,3,4,5,6-pentakisphosphate 1-phosphatase activity (GO:0052825)|inositol-1,3,4,6-tetrakisphosphate 1-phosphatase activity (GO:0052831)|inositol-1,3,4,6-tetrakisphosphate 6-phosphatase activity (GO:0052830)|inositol-1,3,4-trisphosphate 5-kinase activity (GO:0052726)|inositol-1,3,4-trisphosphate 6-kinase activity (GO:0052725)|inositol-3,4,6-trisphosphate 1-kinase activity (GO:0052835)|isomerase activity (GO:0016853)|magnesium ion binding (GO:0000287)	p.C306Y(1)		endometrium(1)|large_intestine(3)|lung(6)|ovary(1)	11		all_cancers(154;0.077)|all_epithelial(191;0.247)		Epithelial(152;0.124)|all cancers(159;0.169)		TTCTATAAAGCACACTTGGCA	0.527																																						ENST00000354313.3																			1	Substitution - Missense(1)	p.C306Y(1)	prostate(1)	endometrium(1)|large_intestine(3)|lung(6)|ovary(1)	11						c.(916-918)tGc>tAc		inositol-tetrakisphosphate 1-kinase							91	87	88					14																	93404856		1568	3582	5150	SO:0001624	3_prime_UTR_variant	3705				blood coagulation|inositol trisphosphate metabolic process|signal transduction	cytosol	ATP binding|hydrolase activity|inositol tetrakisphosphate 1-kinase activity|inositol-1,3,4-trisphosphate 5/6-kinase activity|isomerase activity|ligase activity|magnesium ion binding	g.chr14:93404856C>T	U51336	CCDS9907.1, CCDS45157.1	14q32.12	2012-08-16	2011-04-28		ENSG00000100605	ENSG00000100605	2.7.1.134		6177	protein-coding gene	gene with protein product		601838	"inositol 1,3,4-triphosphate 5/6 kinase"			8662638, 11042108	Standard	NM_014216		Approved		uc001ybh.3	Q13572	OTTHUMG00000171226	ENST00000267615.6:c.*3050G>A	14.37:g.93404856C>T						ITPK1_ENST00000267615.6_3'UTR	p.C306Y	NM_001142594.1	NP_001136066.1	Q13572	ITPK1_HUMAN		Epithelial(152;0.124)|all cancers(159;0.169)	11	1205	-		all_cancers(154;0.077)|all_epithelial(191;0.247)	0			ATP-grasp.		Q9BTL6|Q9H2E7	Missense_Mutation	SNP	ENST00000267615.6	37	c.917G>A	CCDS9907.1	.	.	.	.	.	.	.	.	.	.	C	7.708	0.694610	0.15039	.	.	ENSG00000100605	ENST00000354313	.	.	.	2.78	1.84	0.25277	.	.	.	.	.	T	0.30324	0.0761	.	.	.	0.09310	N	0.999999	B	0.13145	0.007	B	0.12156	0.007	T	0.28618	-1.0038	7	0.87932	D	0	.	6.7852	0.23670	0.2787:0.7213:0.0:0.0	.	306	Q13572-2	.	Y	306	.	ENSP00000346272:C306Y	C	-	2	0	ITPK1	92474609	0.001000	0.12720	0.001000	0.08648	0.003000	0.03518	0.397000	0.20883	0.694000	0.31654	0.563000	0.77884	TGC		0.527	ITPK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412421.2	NM_014216		4	44	0	0	0	0.009096	0	4	44					T	93404856	C	T	93404856	1	4	171	0	1	0	0	0	0	0	0	0	7916	710	25	3		3	ITPK1	14	93404856	3'UTR	SNP	C	TCGA-G9-6371-01A-11D-1786-08	72242868	93404856	13944684	31	8141											
SLC30A4	7782	broad.mit.edu	37	chr15	45814243	45814246	+	Frame_Shift_Del	DEL	TCTC	TCTC	-																															cacctttctctgcttcagtaTctctctctgtttgctgcagt																										TCGA-G9-6371-01A-11D-1786-08	TCGA-G9-6371-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65af285-c62e-40df-9f49-f0812e33dcfa	1d2cf02e-fd49-43d8-b55f-b3a799069f5b	g.chr15:45814243_45814246delTCTC	ENST00000261867.4	-	2	621_624	c.307_310delGAGA	c.(307-312)gagatafs	p.EI103fs	SLC30A4_ENST00000559667.1_5'UTR|HMGN2P46_ENST00000409454.1_RNA	NM_013309.4	NP_037441.2	O14863	ZNT4_HUMAN	solute carrier family 30 (zinc transporter), member 4	103					regulation of sequestering of zinc ion (GO:0061088)|response to toxic substance (GO:0009636)|zinc ion homeostasis (GO:0055069)|zinc ion transmembrane transport (GO:0071577)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)	zinc ion transmembrane transporter activity (GO:0005385)			endometrium(3)|large_intestine(2)|lung(8)|prostate(1)|stomach(1)	15		Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.58e-16)|GBM - Glioblastoma multiforme(94;2.15e-06)		TGCTTCAGTATCTCTCTCTGTTTG	0.475																																						ENST00000261867.4																			0				endometrium(3)|large_intestine(2)|lung(8)|prostate(1)|stomach(1)	15						c.(307-312)tafs		solute carrier family 30 (zinc transporter), member 4																																				SO:0001589	frameshift_variant	7782				regulation of sequestering of zinc ion|response to toxin	endosome membrane|integral to membrane|late endosome	zinc ion transmembrane transporter activity	g.chr15:45814243_45814246delTCTC		CCDS10125.1	15q21.1	2013-05-22			ENSG00000104154	ENSG00000104154		"Solute carriers"	11015	protein-coding gene	gene with protein product		602095		ZNT4			Standard	NM_013309		Approved		uc001zvj.3	O14863	OTTHUMG00000131439	ENST00000261867.4:c.307_310delGAGA	15.37:g.45814247_45814250delTCTC	ENSP00000261867:p.Glu103fs					HMGN2P46_ENST00000409454.1_RNA|SLC30A4_ENST00000559667.1_5'UTR	p.EI103fs	NM_013309.4	NP_037441.2	O14863	ZNT4_HUMAN		all cancers(107;1.58e-16)|GBM - Glioblastoma multiforme(94;2.15e-06)	2	621_624	-		Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)	103					Q8TC39	Frame_Shift_Del	DEL	ENST00000261867.4	37	c.307_310delGAGA	CCDS10125.1																																																																																				0.475	SLC30A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254236.1			30	159						30	159	---	---	---	---	-	45814246	TCTC	-	45814243	7	5	171	1	0	1	0	1	0	0	0	0	14557	1435	50	0	1007	0	SLC30A4	15	45814243	Frame_Shift_Del	DEL	TCTC	TCGA-G9-6371-01A-11D-1786-08		45814243	56717149	32	8142											
MYH4	4622	broad.mit.edu	37	chr17	10350461	10350461	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgcatcaggttagctctgcGctcaaccattgccagttgtt	7	13	9	12	1	3	0	2	0	1	0	3	0	3	0	2	1	5	6	2	1	2	4	rs149007526		TCGA-G9-6371-01A-11D-1786-08	TCGA-G9-6371-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65af285-c62e-40df-9f49-f0812e33dcfa	1d2cf02e-fd49-43d8-b55f-b3a799069f5b	g.chr17:10350461G>A	ENST00000255381.2	-	35	5148	c.5038C>T	c.(5038-5040)Cgc>Tgc	p.R1680C	RP11-799N11.1_ENST00000399342.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|CTC-297N7.11_ENST00000587182.2_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	1680					actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|membrane organization (GO:0061024)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|response to activity (GO:0014823)	muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|microfilament motor activity (GO:0000146)	p.R1680C(1)		NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						TTAGCTCTGCGCTCAACCATT	0.502													G|||	1	0.000199681	8e-04	0	5008	,	,		20016	0		0	False		,,,				2504	0					ENST00000255381.2																			1	Substitution - Missense(1)	p.R1680C(1)	prostate(1)	NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						c.(5038-5040)Cgc>Tgc		myosin, heavy chain 4, skeletal muscle							155	124	135					17																	10350461		2203	4300	6503	SO:0001583	missense	4622				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr17:10350461G>A		CCDS11154.1	17p13.1	2013-09-19	2006-09-29		ENSG00000264424	ENSG00000264424		"Myosins / Myosin superfamily : Class II"	7574	protein-coding gene	gene with protein product		160742	"myosin, heavy polypeptide 4, skeletal muscle"			8518795	Standard	NM_017533		Approved	MYH2B, MyHC-2B, MyHC-IIb	uc002gmn.3	Q9Y623	OTTHUMG00000130365	ENST00000255381.2:c.5038C>T	17.37:g.10350461G>A	ENSP00000255381:p.Arg1680Cys					CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	p.R1680C	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN			35	5148	-			1680						Missense_Mutation	SNP	ENST00000255381.2	37	c.5038C>T	CCDS11154.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	20.2	3.947991	0.73787	.	.	ENSG00000141048	ENST00000255381	T	0.79653	-1.29	5.29	4.26	0.50523	Myosin tail (1);	0.000000	0.33712	U	0.004633	D	0.92374	0.7580	H	0.96333	3.805	0.58432	D	0.999998	D	0.89917	1.0	D	0.97110	1.0	D	0.94021	0.7292	10	0.87932	D	0	.	13.7021	0.62616	0.0:0.0:0.7363:0.2636	.	1680	Q9Y623	MYH4_HUMAN	C	1680	ENSP00000255381:R1680C	ENSP00000255381:R1680C	R	-	1	0	MYH4	10291186	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.975000	0.40569	2.646000	0.89796	0.563000	0.77884	CGC		0.502	MYH4-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252731.1	NM_017533		39	53	0	0	0	0.080422	0	39	53					A	10350461	G	A	10350461	3	1	171	1	0	0	0	0	1	0	0	0	10037	1087	38	1	805	1	MYH4	17	10350461	Missense_Mutation	SNP	G	TCGA-G9-6371-01A-11D-1786-08		10350461	70844749	33	8143											
SLC6A4	6532	broad.mit.edu	37	chr17	28548700	28548700	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggtccacagcatagccaaTcactgagagaaggaaatcca	16	5	9	11	0	1	2	1	1	0	1	3	4	3	3	3	2	2	1	3	2	4	1			TCGA-G9-6371-01A-11D-1786-08	TCGA-G9-6371-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65af285-c62e-40df-9f49-f0812e33dcfa	1d2cf02e-fd49-43d8-b55f-b3a799069f5b	g.chr17:28548700T>G	ENST00000401766.2	-	2	789	c.277A>C	c.(277-279)Att>Ctt	p.I93L	SLC6A4_ENST00000261707.3_Missense_Mutation_p.I93L			P31645	SC6A4_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 4	93					brain morphogenesis (GO:0048854)|cellular response to cGMP (GO:0071321)|cellular response to retinoic acid (GO:0071300)|circadian rhythm (GO:0007623)|memory (GO:0007613)|monoamine transport (GO:0015844)|negative regulation of cerebellar granule cell precursor proliferation (GO:0021941)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of organ growth (GO:0046621)|negative regulation of synaptic transmission, dopaminergic (GO:0032227)|positive regulation of cell cycle (GO:0045787)|positive regulation of gene expression (GO:0010628)|protein homooligomerization (GO:0051260)|protein oligomerization (GO:0051259)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to hypoxia (GO:0001666)|response to nutrient (GO:0007584)|response to toxic substance (GO:0009636)|serotonin transport (GO:0006837)|serotonin uptake (GO:0051610)|social behavior (GO:0035176)|sperm ejaculation (GO:0042713)|thalamus development (GO:0021794)|vasoconstriction (GO:0042310)	cytosol (GO:0005829)|endomembrane system (GO:0012505)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)|cocaine binding (GO:0019811)|monoamine transmembrane transporter activity (GO:0008504)|Rab GTPase binding (GO:0017137)|serotonin transmembrane transporter activity (GO:0015222)|serotonin:sodium symporter activity (GO:0005335)	p.I93L(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(4)	25					Amitriptyline(DB00321)|Amoxapine(DB00543)|Amphetamine(DB00182)|Atomoxetine(DB00289)|Chlorphenamine(DB01114)|Citalopram(DB00215)|Clomipramine(DB01242)|Cocaine(DB00907)|Desipramine(DB01151)|Desvenlafaxine(DB06700)|Dexfenfluramine(DB01191)|Dexmethylphenidate(DB06701)|Dextromethorphan(DB00514)|Dopamine(DB00988)|Doxepin(DB01142)|Duloxetine(DB00476)|Ephedra(DB01363)|Escitalopram(DB01175)|Fluoxetine(DB00472)|Fluvoxamine(DB00176)|Imipramine(DB00458)|Levomilnacipran(DB08918)|Loxapine(DB00408)|Mazindol(DB00579)|Methamphetamine(DB01577)|Methylphenidate(DB00422)|Mianserin(DB06148)|Milnacipran(DB04896)|Minaprine(DB00805)|Mirtazapine(DB00370)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Pethidine(DB00454)|Phentermine(DB00191)|Protriptyline(DB00344)|Pseudoephedrine(DB00852)|Sertraline(DB01104)|Sibutramine(DB01105)|Tapentadol(DB06204)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vilazodone(DB06684)	GCATAGCCAATCACTGAGAGA	0.562																																						ENST00000401766.2																			1	Substitution - Missense(1)	p.I93L(1)	prostate(1)	breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(4)	25						c.(277-279)Att>Ctt		solute carrier family 6 (neurotransmitter transporter), member 4	Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Citalopram(DB00215)|Clomipramine(DB01242)|Cocaine(DB00907)|Desipramine(DB01151)|Dexfenfluramine(DB01191)|Dextromethorphan(DB00514)|Doxepin(DB01142)|Duloxetine(DB00476)|Escitalopram(DB01175)|Fluoxetine(DB00472)|Fluvoxamine(DB00176)|Imipramine(DB00458)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Minaprine(DB00805)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phentermine(DB00191)|Protriptyline(DB00344)|Sertraline(DB01104)|Sibutramine(DB01105)|Tegaserod(DB01079)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)|Zimelidine(DB04832)						205	183	190					17																	28548700		2203	4300	6503	SO:0001583	missense	6532				response to toxin|serotonin uptake|thalamus development	cytosol|endomembrane system|endosome membrane|membrane raft	actin filament binding|Rab GTPase binding|serotonin transmembrane transporter activity|serotonin:sodium symporter activity	g.chr17:28548700T>G	L05568	CCDS11256.1	17q11.2	2014-01-30	2013-07-19		ENSG00000108576	ENSG00000108576		"Solute carriers"	11050	protein-coding gene	gene with protein product	"serotonin transporter 1"	182138	"solute carrier family 6 (neurotransmitter transporter, serotonin), member 4", "5-hydroxytryptamine (serotonin) transporter", "obsessive-compulsive disorder 1"	HTT, OCD1		7681602, 19806148	Standard	NM_001045		Approved	5-HTT, SERT1	uc002hey.5	P31645	OTTHUMG00000132751	ENST00000401766.2:c.277A>C	17.37:g.28548700T>G	ENSP00000385822:p.Ile93Leu					SLC6A4_ENST00000261707.3_Missense_Mutation_p.I93L	p.I93L			P31645	SC6A4_HUMAN			2	789	-			93					Q5EE02	Missense_Mutation	SNP	ENST00000401766.2	37	c.277A>C	CCDS11256.1	.	.	.	.	.	.	.	.	.	.	T	23.3	4.394810	0.83011	.	.	ENSG00000108576	ENST00000394821;ENST00000401766;ENST00000261707	T;T	0.77098	-1.07;-1.07	5.74	4.66	0.58398	.	0.043588	0.85682	D	0.000000	T	0.80854	0.4703	M	0.66297	2.02	0.80722	D	1	P	0.40534	0.72	P	0.48524	0.58	T	0.80867	-0.1190	10	0.66056	D	0.02	.	10.8641	0.46844	0.0:0.0739:0.0:0.9261	.	93	P31645	SC6A4_HUMAN	L	135;93;93	ENSP00000385822:I93L;ENSP00000261707:I93L	ENSP00000261707:I93L	I	-	1	0	SLC6A4	25572826	1.000000	0.71417	0.996000	0.52242	0.967000	0.64934	5.091000	0.64505	0.991000	0.38814	0.533000	0.62120	ATT		0.562	SLC6A4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256115.3	NM_001045		10	118	0	0	0	0.080935	0	10	118					G	28548700	T	G	28548700	3	3	171	1	0	0	0	0	1	0	0	0	14686	1435	50	5	1667	5	SLC6A4	17	28548700	Missense_Mutation	SNP	T	TCGA-G9-6371-01A-11D-1786-08	18198239	28548700	52646510	34	8144											
MED13	9969	broad.mit.edu	37	chr17	60028344	60028344	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aggttctgttgatagtagccGatcagtactctgacccttaa	10	13	9	9	1	3	2	1	2	2	0	3	3	3	2	2	1	2	4	2	1	4	6			TCGA-G9-6371-01A-11D-1786-08	TCGA-G9-6371-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65af285-c62e-40df-9f49-f0812e33dcfa	1d2cf02e-fd49-43d8-b55f-b3a799069f5b	g.chr17:60028344G>A	ENST00000397786.2	-	28	6209	c.6133C>T	c.(6133-6135)Cgg>Tgg	p.R2045W		NM_005121.2	NP_005112.2	Q9UHV7	MED13_HUMAN	mediator complex subunit 13	2045					androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|receptor activity (GO:0004872)|RNA polymerase II transcription cofactor activity (GO:0001104)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)	p.R2045W(2)		breast(4)|central_nervous_system(1)|endometrium(10)|kidney(24)|large_intestine(15)|liver(1)|lung(20)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						GATAGTAGCCGATCAGTACTC	0.383																																						ENST00000397786.2																			2	Substitution - Missense(2)	p.R2045W(2)	large_intestine(1)|prostate(1)	breast(4)|central_nervous_system(1)|endometrium(10)|kidney(24)|large_intestine(15)|liver(1)|lung(20)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						c.(6133-6135)Cgg>Tgg		mediator complex subunit 13							102	91	94					17																	60028344		1886	4132	6018	SO:0001583	missense	9969				androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	g.chr17:60028344G>A	AB011165	CCDS42366.1	17q22-q23	2007-07-30	2007-07-30	2007-07-30		ENSG00000108510			22474	protein-coding gene	gene with protein product		603808	"thyroid hormone receptor associated protein 1"	THRAP1		1019863	Standard	NM_005121		Approved	KIAA0593, TRAP240	uc002izo.3	Q9UHV7		ENST00000397786.2:c.6133C>T	17.37:g.60028344G>A	ENSP00000380888:p.Arg2045Trp						p.R2045W	NM_005121.2	NP_005112.2	Q9UHV7	MED13_HUMAN			28	6209	-			2045					B2RU05|O60334	Missense_Mutation	SNP	ENST00000397786.2	37	c.6133C>T	CCDS42366.1	.	.	.	.	.	.	.	.	.	.	G	30	5.053105	0.93793	.	.	ENSG00000108510	ENST00000397786;ENST00000262436	D	0.83506	-1.73	6.04	6.04	0.98038	.	0.000000	0.85682	D	0.000000	D	0.91784	0.7401	M	0.78916	2.43	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	D	0.91608	0.5300	10	0.87932	D	0	-10.8273	20.5792	0.99380	0.0:0.0:1.0:0.0	.	2045	Q9UHV7	MED13_HUMAN	W	2045;2044	ENSP00000380888:R2045W	ENSP00000262436:R2044W	R	-	1	2	MED13	57383126	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	6.115000	0.71566	2.873000	0.98535	0.561000	0.74099	CGG		0.383	MED13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445461.1	NM_005121		6	45	0	0	0	0.021553	0	6	45					A	60028344	G	A	60028344	3	1	171	1	0	0	0	0	1	0	0	0	9430	1057	37	2	403	2	MED13	17	60028344	Missense_Mutation	SNP	G	TCGA-G9-6371-01A-11D-1786-08	31479644	60028344	21166866	35	8145											
SBK2	646643	broad.mit.edu	37	chr19	56041233	56041233	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtgagggtccagcagccccCgcagaagcgcgtcggccgcg	6	3	17	15	6	0	2	0	1	0	1	2	2	1	2	4	3	3	2	4	3	1	0			TCGA-G9-6371-01A-11D-1786-08	TCGA-G9-6371-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65af285-c62e-40df-9f49-f0812e33dcfa	1d2cf02e-fd49-43d8-b55f-b3a799069f5b	g.chr19:56041233C>T	ENST00000413299.1	-	4	951	c.914G>A	c.(913-915)cGg>cAg	p.R305Q	SBK2_ENST00000344158.3_Missense_Mutation_p.R305Q	NM_001101401.2	NP_001094871.2	P0C263	SBK2_HUMAN	SH3 domain binding kinase family, member 2	305	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.						ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.R305Q(3)		endometrium(1)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	9						CAGCAGCCCCCGCAGAAGCGC	0.741																																						ENST00000413299.1																			3	Substitution - Missense(3)	p.R305Q(3)	prostate(3)	endometrium(1)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	9						c.(913-915)cGg>cAg		SH3 domain binding kinase family, member 2							7	10	9					19																	56041233		1832	3946	5778	SO:0001583	missense	646643						ATP binding|protein serine/threonine kinase activity	g.chr19:56041233C>T		CCDS42631.1	19q13.42	2013-09-27	2013-09-27		ENSG00000187550	ENSG00000187550			34416	protein-coding gene	gene with protein product			"SH3-binding domain kinase family, member 2"				Standard	NM_001101401		Approved	SGK069	uc010ygc.2	P0C263	OTTHUMG00000155830	ENST00000413299.1:c.914G>A	19.37:g.56041233C>T	ENSP00000389015:p.Arg305Gln					SBK2_ENST00000344158.3_Missense_Mutation_p.R305Q	p.R305Q	NM_001101401.2	NP_001094871.2	P0C263	SBK2_HUMAN			4	951	-			305			Protein kinase.			Missense_Mutation	SNP	ENST00000413299.1	37	c.914G>A	CCDS42631.1	.	.	.	.	.	.	.	.	.	.	C	10.38	1.334102	0.24253	.	.	ENSG00000187550	ENST00000413299;ENST00000344158	T;T	0.65364	-0.15;-0.15	3.94	1.7	0.24286	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.424204	0.24046	U	0.042054	T	0.42517	0.1206	L	0.48877	1.53	0.09310	N	0.999993	P	0.35807	0.522	B	0.23852	0.049	T	0.27157	-1.0082	10	0.10111	T	0.7	-7.0977	8.3128	0.32082	0.177:0.6519:0.1711:0.0	.	305	P0C263	SBK2_HUMAN	Q	305	ENSP00000389015:R305Q;ENSP00000345044:R305Q	ENSP00000345044:R305Q	R	-	2	0	SBK2	60733045	0.000000	0.05858	0.892000	0.35008	0.400000	0.30750	-0.827000	0.04424	0.416000	0.25844	0.467000	0.42956	CGG		0.741	SBK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341919.1	NM_001101401		4	26	0	0	0	0.009096	0	4	26					T	56041233	C	T	56041233	3	4	171	1	0	0	0	0	1	0	0	0	13861	652	23	2	135	2	SBK2	19	56041233	Missense_Mutation	SNP	C	TCGA-G9-6371-01A-11D-1786-08		56041233	3087750	36	8146											
ZFP28	140612	broad.mit.edu	37	chr19	57065989	57065989	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cagtcatttaaggattcataCtggggagaagccttttgaat	12	13	10	6	0	2	2	2	1	0	1	2	4	2	3	1	3	2	0	1	3	4	6			TCGA-G9-6371-01A-11D-1786-08	TCGA-G9-6371-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65af285-c62e-40df-9f49-f0812e33dcfa	1d2cf02e-fd49-43d8-b55f-b3a799069f5b	g.chr19:57065989C>T	ENST00000301318.3	+	8	1906	c.1835C>T	c.(1834-1836)aCt>aTt	p.T612I	AC007228.11_ENST00000596587.1_RNA	NM_020828.1	NP_065879.1	Q8NHY6	ZFP28_HUMAN	ZFP28 zinc finger protein	612					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.T612I(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(14)|lung(6)|ovary(1)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	35		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0302)		AGGATTCATACTGGGGAGAAG	0.428																																					Ovarian(124;554 1662 19430 21141 52494)	ENST00000301318.3																			1	Substitution - Missense(1)	p.T612I(1)	prostate(1)	breast(1)|endometrium(2)|kidney(1)|large_intestine(14)|lung(6)|ovary(1)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	35						c.(1834-1836)aCt>aTt		ZFP28 zinc finger protein							96	106	103					19																	57065989		2203	4300	6503	SO:0001583	missense	140612				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57065989C>T		CCDS12946.1	19q13.43	2013-01-08	2012-11-27			ENSG00000196867		"Zinc fingers, C2H2-type", "-"	17801	protein-coding gene	gene with protein product			"zinc finger protein 28 homolog (mouse)"				Standard	NM_020828		Approved	KIAA1431, mkr5	uc002qnj.3	Q8NHY6		ENST00000301318.3:c.1835C>T	19.37:g.57065989C>T	ENSP00000301318:p.Thr612Ile					AC007228.11_ENST00000596587.1_RNA	p.T612I	NM_020828.1	NP_065879.1	Q8NHY6	ZFP28_HUMAN		GBM - Glioblastoma multiforme(193;0.0302)	8	1906	+		Colorectal(82;0.000256)|Ovarian(87;0.243)	612					A0JNV6|K7ES88|Q8NHU8|Q9BY30|Q9P2B6	Missense_Mutation	SNP	ENST00000301318.3	37	c.1835C>T	CCDS12946.1	.	.	.	.	.	.	.	.	.	.	C	17.21	3.331671	0.60853	.	.	ENSG00000196867	ENST00000301318	T	0.25749	1.78	4.12	4.12	0.48240	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.47455	D	0.000227	T	0.49133	0.1539	M	0.67700	2.07	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	T	0.52866	-0.8518	10	0.62326	D	0.03	.	15.643	0.77020	0.0:1.0:0.0:0.0	.	612	Q8NHY6	ZFP28_HUMAN	I	612	ENSP00000301318:T612I	ENSP00000301318:T612I	T	+	2	0	ZFP28	61757801	0.013000	0.17824	0.331000	0.25455	0.977000	0.68977	2.450000	0.44943	2.285000	0.76669	0.555000	0.69702	ACT		0.428	ZFP28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458409.1	NM_020828		9	138	0	0	0	0.058154	0	9	138					T	57065989	C	T	57065989	3	4	171	1	0	0	0	0	1	0	0	0	17639	565	20	3	1865	3	ZFP28	19	57065989	Missense_Mutation	SNP	C	TCGA-G9-6371-01A-11D-1786-08	1024756	57065989	2062994	37	8147											
RNF160	26046	broad.mit.edu	37	chr21	30339290	30339290	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacccaaaacggactcaacaTcagcttctggctcactgatt	12	9	6	14	1	4	1	3	1	1	0	4	2	4	2	1	2	3	2	1	2	3	2	rs113622445	byFrequency	TCGA-G9-6371-01A-11D-1786-08	TCGA-G9-6371-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65af285-c62e-40df-9f49-f0812e33dcfa	1d2cf02e-fd49-43d8-b55f-b3a799069f5b	g.chr21:30339290T>G	ENST00000361371.5	-	10	1602	c.1523A>C	c.(1522-1524)gAt>gCt	p.D508A	LTN1_ENST00000389195.2_Missense_Mutation_p.D554A|LTN1_ENST00000389194.2_Missense_Mutation_p.D554A			O94822	LTN1_HUMAN	listerin E3 ubiquitin protein ligase 1	508					protein ubiquitination (GO:0016567)		ligase activity (GO:0016874)|zinc ion binding (GO:0008270)	p.D508A(1)		NS(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(19)|ovary(5)|pancreas(1)|prostate(2)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)	60						GGACTCAACATCAGCTTCTGG	0.393																																						ENST00000361371.4																			1	Substitution - Missense(1)	p.D508A(1)	prostate(1)	NS(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(19)|ovary(5)|pancreas(1)|prostate(2)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)	60						c.(1522-1524)gAt>gCt		listerin E3 ubiquitin protein ligase 1							158	144	149					21																	30339290		2203	4300	6503	SO:0001583	missense	26046						ligase activity|zinc ion binding	g.chr21:30339290T>G	AK001915	CCDS33527.1, CCDS33527.2	21q21.3	2013-01-09	2010-09-17	2010-09-17	ENSG00000198862	ENSG00000198862		"RING-type (C3HC4) zinc fingers"	13082	protein-coding gene	gene with protein product	"listerin"	613083	"chromosome 21 open reading frame 98", "zinc finger protein 294", "ring finger protein 160"	C21orf98, C21orf10, ZNF294, RNF160		20835226, 19196968	Standard	NM_015565		Approved	KIAA0714, FLJ11053, LISTERIN	uc002ymr.2	O94822	OTTHUMG00000078803	ENST00000361371.5:c.1523A>C	21.37:g.30339290T>G	ENSP00000354977:p.Asp508Ala					LTN1_ENST00000389195.2_Missense_Mutation_p.D554A|LTN1_ENST00000389194.2_Missense_Mutation_p.D554A	p.D508A	NM_015565.2	NP_056380.2	O94822	LTN1_HUMAN			10	1673	-			508					A6NL41|A7E2D0|B2RTS0|C9J7U3|J3KPL4|Q05C47|Q9H8M4|Q9NUY5|Q9P0E9	Missense_Mutation	SNP	ENST00000361371.5	37	c.1523A>C		.	.	.	.	.	.	.	.	.	.	T	13.41	2.228335	0.39399	.	.	ENSG00000198862	ENST00000389194;ENST00000361371;ENST00000389195	T;T;T	0.27402	2.02;2.04;1.67	5.02	3.87	0.44632	Armadillo-type fold (1);	0.051573	0.85682	D	0.000000	T	0.21962	0.0529	N	0.14661	0.345	0.49213	D	0.999762	D	0.54397	0.966	P	0.48738	0.588	T	0.02156	-1.1204	10	0.35671	T	0.21	.	8.2746	0.31864	0.0:0.1531:0.0:0.8469	.	508	O94822	LTN1_HUMAN	A	554;508;554	ENSP00000373846:D554A;ENSP00000354977:D508A;ENSP00000373847:D554A	ENSP00000354977:D508A	D	-	2	0	LTN1	29261161	1.000000	0.71417	0.347000	0.25668	0.032000	0.12392	5.341000	0.65964	1.038000	0.40049	0.528000	0.53228	GAT		0.393	LTN1-008	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000472108.1	NM_015565		10	117	0	0	0	0.080935	0	10	117					G	30339290	T	G	30339290	3	3	171	1	0	0	0	0	1	0	0	0	13455	1435	50	5	3861	5	RNF160	21	30339290	Missense_Mutation	SNP	T	TCGA-G9-6371-01A-11D-1786-08		30339290	17790605	38	8148											
TCN2	6948	broad.mit.edu	37	chr22	31022486	31022486	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caaggatggagaaaccattgAgctgaggctggttagctggt	11	9	15	6	0	0	3	0	2	0	1	0	5	0	4	1	5	3	4	1	5	3	2			TCGA-G9-6371-01A-11D-1786-08	TCGA-G9-6371-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65af285-c62e-40df-9f49-f0812e33dcfa	1d2cf02e-fd49-43d8-b55f-b3a799069f5b	g.chr22:31022486A>T	ENST00000215838.3	+	9	1756	c.1262A>T	c.(1261-1263)gAg>gTg	p.E421V	TCN2_ENST00000407817.3_Missense_Mutation_p.E394V|TCN2_ENST00000405742.3_Missense_Mutation_p.E417V			P20062	TCO2_HUMAN	transcobalamin II	421					cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|cobalt ion transport (GO:0006824)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	endosome (GO:0005768)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)	cobalamin binding (GO:0031419)|metal ion binding (GO:0046872)	p.E421V(1)		central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|prostate(2)|urinary_tract(1)	22					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	GAAACCATTGAGCTGAGGCTG	0.567																																						ENST00000215838.3																			1	Substitution - Missense(1)	p.E421V(1)	prostate(1)	central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|prostate(2)|urinary_tract(1)	22						c.(1261-1263)gAg>gTg		transcobalamin II	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)						126	100	109					22																	31022486		2203	4300	6503	SO:0001583	missense	6948				cobalamin metabolic process|cobalamin transport|cobalt ion transport	extracellular space	cobalamin binding	g.chr22:31022486A>T		CCDS13881.1, CCDS54519.1	22q12.2	2014-09-17	2010-05-11		ENSG00000185339	ENSG00000185339			11653	protein-coding gene	gene with protein product	"macrocytic anemia"	613441	"transcobalamin II; macrocytic anemia"			1708393, 7742531	Standard	NM_000355		Approved	D22S676, D22S750, TC2	uc003aip.2	P20062	OTTHUMG00000151095	ENST00000215838.3:c.1262A>T	22.37:g.31022486A>T	ENSP00000215838:p.Glu421Val					TCN2_ENST00000405742.3_Missense_Mutation_p.E417V|TCN2_ENST00000407817.3_Missense_Mutation_p.E394V	p.E421V			P20062	TCO2_HUMAN			9	1756	+			421					Q96FD4|Q9BVI8|Q9UCI5|Q9UCI6|Q9UDM0	Missense_Mutation	SNP	ENST00000215838.3	37	c.1262A>T	CCDS13881.1	.	.	.	.	.	.	.	.	.	.	A	8.744	0.919640	0.17982	.	.	ENSG00000185339	ENST00000215838;ENST00000405742;ENST00000407817	T;T;T	0.30448	1.53;1.53;1.53	5.32	4.25	0.50352	.	0.262018	0.38720	N	0.001597	T	0.26376	0.0644	M	0.78801	2.425	0.80722	D	1	B;P;P	0.35348	0.278;0.496;0.496	B;B;B	0.33042	0.084;0.157;0.157	T	0.13737	-1.0498	10	0.02654	T	1	-16.0732	7.3035	0.26434	0.701:0.0:0.0:0.299	.	394;417;421	Q96FD4;B5MBX2;P20062	.;.;TCO2_HUMAN	V	421;417;394	ENSP00000215838:E421V;ENSP00000385914:E417V;ENSP00000384914:E394V	ENSP00000215838:E421V	E	+	2	0	TCN2	29352486	0.999000	0.42202	0.999000	0.59377	0.888000	0.51559	3.094000	0.50227	2.011000	0.59026	0.533000	0.62120	GAG		0.567	TCN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000321282.2	NM_000355		13	50	0	0	0	0.146539	0	13	50					T	31022486	A	T	31022486	3	4	171	1	0	0	0	0	1	0	0	0	15704	304	11	5	1296	5	TCN2	22	31022486	Missense_Mutation	SNP	A	TCGA-G9-6371-01A-11D-1786-08		31022486	20282080	39	8149											
SREBF2	6721	broad.mit.edu	37	chr22	42264696	42264696	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagcaggtgcagacagtacAggcccagcgggtgctgacac	10	4	15	12	1	0	2	0	1	0	1	0	2	0	2	1	3	5	5	1	3	1	1			TCGA-G9-6371-01A-11D-1786-08	TCGA-G9-6371-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65af285-c62e-40df-9f49-f0812e33dcfa	1d2cf02e-fd49-43d8-b55f-b3a799069f5b	g.chr22:42264696A>T	ENST00000361204.4	+	3	786	c.620A>T	c.(619-621)cAg>cTg	p.Q207L		NM_004599.2	NP_004590.2	Q12772	SRBP2_HUMAN	sterol regulatory element binding transcription factor 2	207	Gln-rich.				cellular lipid metabolic process (GO:0044255)|cellular response to laminar fluid shear stress (GO:0071499)|cholesterol metabolic process (GO:0008203)|lipid metabolic process (GO:0006629)|negative regulation of cholesterol efflux (GO:0090370)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cholesterol homeostasis (GO:2000188)|regulation of lipid transport by negative regulation of transcription from RNA polymerase II promoter (GO:0072368)|response to low-density lipoprotein particle (GO:0055098)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SREBP-SCAP-Insig complex (GO:0032937)	E-box binding (GO:0070888)|protein C-terminus binding (GO:0008022)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.Q207L(1)		NS(2)|breast(6)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						CAGACAGTACAGGCCCAGCGG	0.612																																						ENST00000361204.4																			1	Substitution - Missense(1)	p.Q207L(1)	prostate(1)	NS(2)|breast(6)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						c.(619-621)cAg>cTg		sterol regulatory element binding transcription factor 2							67	50	56					22																	42264696		2203	4300	6503	SO:0001583	missense	6721				cholesterol metabolic process	ER to Golgi transport vesicle membrane|Golgi membrane|nucleus|SREBP-SCAP-Insig complex	protein C-terminus binding	g.chr22:42264696A>T	U02031	CCDS14023.1	22q13.2	2013-05-21			ENSG00000198911	ENSG00000198911		"Basic helix-loop-helix proteins"	11290	protein-coding gene	gene with protein product		600481				7903453	Standard	NM_004599		Approved	SREBP2, bHLHd2	uc003bbi.3	Q12772	OTTHUMG00000151261	ENST00000361204.4:c.620A>T	22.37:g.42264696A>T	ENSP00000354476:p.Gln207Leu						p.Q207L	NM_004599.2	NP_004590.2	Q12772	SRBP2_HUMAN			3	786	+			207			Gln-rich.		Q05BD5|Q6GTH7|Q86V36|Q9UH04	Missense_Mutation	SNP	ENST00000361204.4	37	c.620A>T	CCDS14023.1	.	.	.	.	.	.	.	.	.	.	A	17.07	3.296308	0.60086	.	.	ENSG00000198911	ENST00000361204;ENST00000444813;ENST00000457567	T	0.54279	0.58	5.89	5.89	0.94794	.	0.000000	0.64402	D	0.000010	T	0.55862	0.1947	N	0.19112	0.55	0.46317	D	0.998988	D	0.60160	0.987	D	0.67725	0.953	T	0.51601	-0.8685	10	0.17832	T	0.49	-21.1592	15.977	0.80076	1.0:0.0:0.0:0.0	.	207	Q12772	SRBP2_HUMAN	L	207	ENSP00000354476:Q207L	ENSP00000354476:Q207L	Q	+	2	0	SREBF2	40594642	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	3.590000	0.53979	2.251000	0.74343	0.533000	0.62120	CAG		0.612	SREBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321956.1	NM_004599		14	28	0	0	0	0.11911	0	14	28					T	42264696	A	T	42264696	3	4	171	1	0	0	0	0	1	0	0	0	15141	188	7	5	630	5	SREBF2	22	42264696	Missense_Mutation	SNP	A	TCGA-G9-6371-01A-11D-1786-08	11242210	42264696	9039870	40	8150											
LAMC1	3915	broad.mit.edu	37	chr1	183077436	183077436	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggtaactgccactgacatcaGagtaactcttaatcgcctga	12	10	8	11	1	2	3	1	2	1	1	3	3	2	3	2	1	3	2	2	1	3	3			TCGA-G9-6373-01A-11D-1786-08	TCGA-G9-6373-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0caf5af2-ae80-4f39-ac6f-c2dbc2e8b820	906935a6-9e29-4146-a7a0-d60f2507e774	g.chr1:183077436G>A	ENST00000258341.4	+	3	1006	c.749G>A	c.(748-750)aGa>aAa	p.R250K		NM_002293.3	NP_002284.3	P11047	LAMC1_HUMAN	laminin, gamma 1 (formerly LAMB2)	250	Laminin N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00466}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|endoderm development (GO:0007492)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|positive regulation of epithelial cell proliferation (GO:0050679)|protein complex assembly (GO:0006461)|substrate adhesion-dependent cell spreading (GO:0034446)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-11 complex (GO:0043260)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)	p.R250K(2)		NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(27)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	76						ACTGACATCAGAGTAACTCTT	0.378																																						ENST00000258341.4																			2	Substitution - Missense(2)	p.R250K(2)	prostate(2)	NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(27)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	76						c.(748-750)aGa>aAa		laminin, gamma 1 (formerly LAMB2)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						141	134	136					1																	183077436		2203	4300	6503	SO:0001583	missense	3915				axon guidance|cell migration|endoderm development|extracellular matrix disassembly|hemidesmosome assembly|positive regulation of epithelial cell proliferation|protein complex assembly|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	extracellular matrix structural constituent	g.chr1:183077436G>A	J03202	CCDS1351.1	1q31	2013-03-01			ENSG00000135862	ENSG00000135862		"Laminins"	6492	protein-coding gene	gene with protein product		150290		LAMB2		3234037	Standard	NM_002293		Approved		uc001gpy.4	P11047	OTTHUMG00000035418	ENST00000258341.4:c.749G>A	1.37:g.183077436G>A	ENSP00000258341:p.Arg250Lys						p.R250K	NM_002293.3	NP_002284.3	P11047	LAMC1_HUMAN			3	1006	+			250			Laminin N-terminal.		Q5VYE7	Missense_Mutation	SNP	ENST00000258341.4	37	c.749G>A	CCDS1351.1	.	.	.	.	.	.	.	.	.	.	G	15.09	2.730755	0.48939	.	.	ENSG00000135862	ENST00000258341	D	0.83914	-1.78	4.43	4.43	0.53597	Laminin, N-terminal (3);	0.049079	0.85682	D	0.000000	T	0.79311	0.4424	L	0.39397	1.21	0.51233	D	0.999916	B	0.27166	0.17	B	0.30029	0.11	T	0.79011	-0.1977	10	0.59425	D	0.04	.	17.421	0.87515	0.0:0.0:1.0:0.0	.	250	P11047	LAMC1_HUMAN	K	250	ENSP00000258341:R250K	ENSP00000258341:R250K	R	+	2	0	LAMC1	181344059	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.503000	0.60407	2.179000	0.69175	0.467000	0.42956	AGA		0.378	LAMC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085954.2	NM_002293		15	106	0	0	0	1	0	15	106					A	183077436	G	A	183077436	3	1	172	1	0	0	0	0	1	0	0	0	8614	942	33	3	759	3	LAMC1	1	183077436	Missense_Mutation	SNP	G	TCGA-G9-6373-01A-11D-1786-08		183077436	66173185	1	8151											
C1orf106	55765	broad.mit.edu	37	chr1	200878355	200878355	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ctctaatccttttgcagcagCccagccaccacaccacagga	11	7	6	17	0	1	0	0	0	1	0	2	1	2	1	5	1	4	2	5	1	1	3			TCGA-G9-6373-01A-11D-1786-08	TCGA-G9-6373-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0caf5af2-ae80-4f39-ac6f-c2dbc2e8b820	906935a6-9e29-4146-a7a0-d60f2507e774	g.chr1:200878355C>T	ENST00000367342.4	+	8	1244	c.1044C>T	c.(1042-1044)agC>agT	p.S348S	C1orf106_ENST00000413687.2_Silent_p.S263S	NM_018265.3	NP_060735.3	Q3KP66	CA106_HUMAN	chromosome 1 open reading frame 106	348	Pro-rich.									endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(2)	21						TTTGCAGCAGCCCAGCCACCA	0.602																																						ENST00000367342.4																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(2)	21						c.(1042-1044)agC>agT		chromosome 1 open reading frame 106							39	42	41					1																	200878355		2202	4300	6502	SO:0001819	synonymous_variant	55765							g.chr1:200878355C>T	AK001763	CCDS44292.1	1q32.1	2011-02-15			ENSG00000163362	ENSG00000163362			25599	protein-coding gene	gene with protein product						14702039	Standard	NM_018265		Approved	FLJ10901	uc001gvo.4	Q3KP66	OTTHUMG00000035789	ENST00000367342.4:c.1044C>T	1.37:g.200878355C>T						C1orf106_ENST00000413687.2_Silent_p.S263S	p.S348S	NM_018265.3	NP_060735.3	Q3KP66	CA106_HUMAN			8	1244	+			348			Pro-rich.		B4E1K9|E9PFY0|Q9NV65|Q9NVI0	Silent	SNP	ENST00000367342.4	37	c.1044C>T																																																																																					0.602	C1orf106-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000087057.2	NM_018265		34	89	0	0	0	1	0	34	89					T	200878355	C	T	200878355	2	4	172	1	0	0	0	0	0	0	0	1	1980	738	26	3		3	C1orf106	1	200878355	Silent	SNP	C	TCGA-G9-6373-01A-11D-1786-08	17800919	200878355	48372266	2	8152											
DSTYK	25778	broad.mit.edu	37	chr1	205126469	205126469	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	caggaagcggattccctccaCcacatctagtgctatctgca	10	9	8	14	1	2	0	0	0	2	0	4	2	4	2	3	2	3	2	3	2	3	3			TCGA-G9-6373-01A-11D-1786-08	TCGA-G9-6373-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0caf5af2-ae80-4f39-ac6f-c2dbc2e8b820	906935a6-9e29-4146-a7a0-d60f2507e774	g.chr1:205126469C>T	ENST00000367162.3	-	10	2314	c.2284G>A	c.(2284-2286)Gtg>Atg	p.V762M	DSTYK_ENST00000367161.3_Missense_Mutation_p.V762M|DSTYK_ENST00000367160.4_Intron	NM_015375.2	NP_056190.1	Q6XUX3	DUSTY_HUMAN	dual serine/threonine and tyrosine protein kinase	762	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular response to fibroblast growth factor stimulus (GO:0044344)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast growth factor receptor signaling pathway (GO:0045743)|positive regulation of kinase activity (GO:0033674)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)	p.V223M(1)|p.V762M(1)		breast(2)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(2)	14						ATTCCCTCCACCACATCTAGT	0.473																																						ENST00000367162.3																			2	Substitution - Missense(2)	p.V223M(1)|p.V762M(1)	prostate(2)	breast(2)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(2)	14						c.(2284-2286)Gtg>Atg		dual serine/threonine and tyrosine protein kinase							149	128	135					1																	205126469		2203	4300	6503	SO:0001583	missense	25778					cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr1:205126469C>T	AF068286	CCDS1451.1, CCDS1452.1	1q32	2008-12-18	2008-12-18	2008-12-18	ENSG00000133059	ENSG00000133059			29043	protein-coding gene	gene with protein product		612666	"receptor interacting protein kinase 5"	RIPK5		15178406	Standard	NM_015375		Approved	KIAA0472, DustyPK, RIP5	uc001hbw.3	Q6XUX3	OTTHUMG00000037102	ENST00000367162.3:c.2284G>A	1.37:g.205126469C>T	ENSP00000356130:p.Val762Met					DSTYK_ENST00000367161.3_Missense_Mutation_p.V762M|DSTYK_ENST00000367160.4_Intron	p.V762M	NM_015375.2	NP_056190.1	Q6XUX3	DUSTY_HUMAN			10	2314	-			762			Protein kinase.		B7ZL64|O75060|Q17R94|Q5RKT0|Q6IN87|Q6P997|Q86Y03|Q9P1S5	Missense_Mutation	SNP	ENST00000367162.3	37	c.2284G>A	CCDS1451.1	.	.	.	.	.	.	.	.	.	.	C	32	5.140890	0.94560	.	.	ENSG00000133059	ENST00000367161;ENST00000367162	T;T	0.23950	1.88;1.88	5.47	5.47	0.80525	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.059028	0.64402	D	0.000002	T	0.43299	0.1241	L	0.41027	1.25	0.80722	D	1	D;D	0.57571	0.973;0.98	D;P	0.63703	0.917;0.873	T	0.22347	-1.0219	10	0.72032	D	0.01	-20.2178	19.3125	0.94195	0.0:1.0:0.0:0.0	.	762;762	Q6XUX3-2;Q6XUX3	.;DUSTY_HUMAN	M	762	ENSP00000356129:V762M;ENSP00000356130:V762M	ENSP00000356129:V762M	V	-	1	0	DSTYK	203393092	1.000000	0.71417	1.000000	0.80357	0.907000	0.53573	7.744000	0.85034	2.753000	0.94483	0.557000	0.71058	GTG		0.473	DSTYK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090345.1	NM_015375		42	96	0	0	0	1	0	42	96					T	205126469	C	T	205126469	3	4	172	1	0	0	0	0	1	0	0	0	4785	507	18	3	521	3	DSTYK	1	205126469	Missense_Mutation	SNP	C	TCGA-G9-6373-01A-11D-1786-08	4248114	205126469	44124152	3	8153											
CRIM1	51232	broad.mit.edu	37	chr2	36691752	36691752	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccccgcatagtctctcgtggCgatgggacacctggaaagtg	8	8	13	12	3	1	0	0	0	1	0	3	3	1	2	3	3	0	1	3	3	2	1	rs372559618		TCGA-G9-6373-01A-11D-1786-08	TCGA-G9-6373-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0caf5af2-ae80-4f39-ac6f-c2dbc2e8b820	906935a6-9e29-4146-a7a0-d60f2507e774	g.chr2:36691752C>T	ENST00000280527.2	+	5	1312	c.945C>T	c.(943-945)ggC>ggT	p.G315G		NM_016441.2	NP_057525.1	Q9NZV1	CRIM1_HUMAN	cysteine rich transmembrane BMP regulator 1 (chordin-like)	315					insulin-like growth factor receptor signaling pathway (GO:0048009)|nervous system development (GO:0007399)|regulation of cell growth (GO:0001558)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	insulin-like growth factor-activated receptor activity (GO:0005010)|PDZ domain binding (GO:0030165)|serine-type endopeptidase inhibitor activity (GO:0004867)	p.G315G(1)		autonomic_ganglia(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(15)|liver(2)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	45		all_hematologic(82;0.131)|Acute lymphoblastic leukemia(82;0.154)				TCTCTCGTGGCGATGGGACAC	0.502																																						ENST00000280527.2																			1	Substitution - coding silent(1)	p.G315G(1)	prostate(1)	autonomic_ganglia(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(15)|liver(2)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	45						c.(943-945)ggC>ggT		cysteine rich transmembrane BMP regulator 1 (chordin-like)		C		1,4405	2.1+/-5.4	0,1,2202	307	280	289		945	3.6	1	2		289	0,8600		0,0,4300	no	coding-synonymous	CRIM1	NM_016441.2		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		315/1037	36691752	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	51232				nervous system development|regulation of cell growth	extracellular region|integral to membrane|plasma membrane	insulin-like growth factor binding|insulin-like growth factor receptor activity|serine-type endopeptidase inhibitor activity	g.chr2:36691752C>T	AF168681	CCDS1783.1	2p21	2010-06-29	2005-07-25		ENSG00000150938	ENSG00000150938			2359	protein-coding gene	gene with protein product		606189	"cysteine-rich motor neuron 1"	S52		10642437	Standard	NM_016441		Approved		uc002rpd.3	Q9NZV1	OTTHUMG00000099419	ENST00000280527.2:c.945C>T	2.37:g.36691752C>T							p.G315G	NM_016441.2	NP_057525.1	Q9NZV1	CRIM1_HUMAN			5	1312	+		all_hematologic(82;0.131)|Acute lymphoblastic leukemia(82;0.154)	315					Q2M2G4|Q59GH0|Q7LCQ5|Q9H318	Silent	SNP	ENST00000280527.2	37	c.945C>T	CCDS1783.1																																																																																				0.502	CRIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216878.2	NM_016441		64	239	0	0	0	1	0	64	239					T	36691752	C	T	36691752	2	4	172	1	0	0	0	0	0	0	0	1	3873	755	27	1		1	CRIM1	2	36691752	Silent	SNP	C	TCGA-G9-6373-01A-11D-1786-08		36691752	206507621	4	8154											
EML4	27436	broad.mit.edu	37	chr2	42543187	42543187	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tctctgtgatgcgctactcaAtaggtaggcaaatttactcc	10	13	8	10	1	2	1	1	1	1	0	4	1	3	1	1	2	3	3	1	2	6	5	rs374261901		TCGA-G9-6373-01A-11D-1786-08	TCGA-G9-6373-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0caf5af2-ae80-4f39-ac6f-c2dbc2e8b820	906935a6-9e29-4146-a7a0-d60f2507e774	g.chr2:42543187A>T	ENST00000318522.5	+	18	2315	c.2053A>T	c.(2053-2055)Ata>Tta	p.I685L	EML4_ENST00000401738.3_Missense_Mutation_p.I696L|EML4_ENST00000453191.2_Intron|EML4_ENST00000402711.2_Missense_Mutation_p.I627L	NM_019063.3	NP_061936	Q9HC35	EMAL4_HUMAN	echinoderm microtubule associated protein like 4	685					microtubule-based process (GO:0007017)|mitotic nuclear division (GO:0007067)|negative regulation of microtubule depolymerization (GO:0007026)	cytoplasm (GO:0005737)|membrane (GO:0016020)|microtubule (GO:0005874)|mitotic spindle (GO:0072686)		p.I685L(1)	EML4/ALK(543)	NS(2)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	12						GCGCTACTCAATAGGTAGGCA	0.423			T	ALK	NSCLC																																	ENST00000318522.5				Dom	yes		2	2p21	27436	T	echinoderm microtubule associated protein like 4			E	ALK		NSCLC	EML4/ALK(543)	1	Substitution - Missense(1)	p.I685L(1)	prostate(1)	NS(2)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	12						c.(2053-2055)Ata>Tta		echinoderm microtubule associated protein like 4							80	77	78					2																	42543187		2203	4300	6503	SO:0001583	missense	27436				microtubule-based process|mitosis	cytoplasm|microtubule	protein binding	g.chr2:42543187A>T	AF177377	CCDS1807.1, CCDS46266.1	2p21	2013-01-10		2002-02-15	ENSG00000143924	ENSG00000143924		"WD repeat domain containing"	1316	protein-coding gene	gene with protein product		607442		C2orf2			Standard	NM_019063		Approved	ROPP120, ELP120	uc002rsi.3	Q9HC35	OTTHUMG00000128603	ENST00000318522.5:c.2053A>T	2.37:g.42543187A>T	ENSP00000320663:p.Ile685Leu					EML4_ENST00000402711.2_Missense_Mutation_p.I627L|EML4_ENST00000401738.3_Missense_Mutation_p.I696L|EML4_ENST00000453191.2_Intron	p.I685L	NM_019063.3	NP_061936.2	Q9HC35	EMAL4_HUMAN			18	2315	+			685					A6H8Y6|B2RBK3|B2RTW7|B5MCW9|Q3SWW0|Q53R29|Q53TW8|Q6PJ45|Q9NV40	Missense_Mutation	SNP	ENST00000318522.5	37	c.2053A>T	CCDS1807.1	.	.	.	.	.	.	.	.	.	.	A	22.2	4.252229	0.80135	.	.	ENSG00000143924	ENST00000318522;ENST00000402711;ENST00000401738	T;T;T	0.56103	0.48;0.48;0.48	5.98	-4.24	0.03777	WD40/YVTN repeat-like-containing domain (1);Quinonprotein alcohol dehydrogenase-like (1);WD40-repeat-containing domain (1);	0.554233	0.20197	N	0.097198	T	0.25901	0.0631	N	0.14661	0.345	0.09310	N	0.999999	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.01281	0.0;0.0;0.0;0.0	T	0.06023	-1.0850	10	0.72032	D	0.01	-0.0492	4.078	0.09912	0.398:0.0925:0.4155:0.094	.	627;627;696;685	A6H8Y6;B5MCW9;B5MBZ0;Q9HC35	.;.;.;EMAL4_HUMAN	L	685;627;696	ENSP00000320663:I685L;ENSP00000385059:I627L;ENSP00000384939:I696L	ENSP00000320663:I685L	I	+	1	0	EML4	42396691	0.912000	0.30974	0.096000	0.21009	0.994000	0.84299	0.528000	0.23002	-0.711000	0.04995	0.482000	0.46254	ATA		0.423	EML4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250463.3	NM_019063		34	75	0	0	0	1	0	34	75					T	42543187	A	T	42543187	3	4	172	1	0	0	0	0	1	0	0	0	5099	101	4	5	2123	5	EML4	2	42543187	Missense_Mutation	SNP	A	TCGA-G9-6373-01A-11D-1786-08	5851435	42543187	200656186	5	8155											
LRP1B	53353	broad.mit.edu	37	chr2	141680622	141680622	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcactaccatcttcacagtcTttttctccatcacagcgcca	9	13	3	16	1	6	0	3	0	3	0	7	0	6	0	3	0	2	0	3	0	1	4			TCGA-G9-6373-01A-11D-1786-08	TCGA-G9-6373-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0caf5af2-ae80-4f39-ac6f-c2dbc2e8b820	906935a6-9e29-4146-a7a0-d60f2507e774	g.chr2:141680622T>G	ENST00000389484.3	-	21	4202	c.3231A>C	c.(3229-3231)aaA>aaC	p.K1077N		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	1077	LDL-receptor class A 8. {ECO:0000255|PROSITE-ProRule:PRU00124}.				protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)	p.K1077N(1)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CTTCACAGTCTTTTTCTCCAT	0.418										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	ENST00000389484.3																			1	Substitution - Missense(1)	p.K1077N(1)	prostate(1)	NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606						c.(3229-3231)aaA>aaC		low density lipoprotein receptor-related protein 1B							208	183	191					2																	141680622		2203	4300	6503	SO:0001583	missense	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141680622T>G	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"Low density lipoprotein receptors"	6693	protein-coding gene	gene with protein product	"LRP-deleted in tumors"	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.3231A>C	2.37:g.141680622T>G	ENSP00000374135:p.Lys1077Asn	TSP Lung(27;0.18)					p.K1077N	NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)	21	4202	-		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)	1077			LDL-receptor class A 8.		Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	c.3231A>C	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	T	13.50	2.254827	0.39896	.	.	ENSG00000168702	ENST00000389484;ENST00000544579;ENST00000434794	D;D	0.95137	-3.62;-3.62	5.19	0.324	0.15898	Low-density lipoprotein (LDL) receptor class A, conserved site (1);	0.000000	0.85682	U	0.000000	D	0.89726	0.6798	N	0.03281	-0.365	0.45477	D	0.998441	B;D	0.69078	0.254;0.997	B;D	0.72075	0.143;0.976	D	0.83422	0.0033	10	0.15066	T	0.55	.	8.9047	0.35517	0.0:0.6063:0.0:0.3937	.	260;1077	Q96NT6;Q9NZR2	.;LRP1B_HUMAN	N	1077;1015;222	ENSP00000374135:K1077N;ENSP00000413239:K222N	ENSP00000374135:K1077N	K	-	3	2	LRP1B	141397092	0.998000	0.40836	0.974000	0.42286	0.954000	0.61252	0.456000	0.21859	0.037000	0.15575	0.455000	0.32223	AAA		0.418	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		47	113	0	0	0	1	0	47	113					G	141680622	T	G	141680622	3	3	172	1	0	0	0	0	1	0	0	0	8955	1606	56	5	10852	5	LRP1B	2	141680622	Missense_Mutation	SNP	T	TCGA-G9-6373-01A-11D-1786-08	99137435	141680622	101518751	6	8156											
BAZ2B	29994	broad.mit.edu	37	chr2	160287661	160287661	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatctgattctgaattactaTctgattctgggaagtaaaag	13	15	8	5	0	4	3	0	3	4	0	4	4	4	4	0	1	1	1	0	1	7	6			TCGA-G9-6373-01A-11D-1786-08	TCGA-G9-6373-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0caf5af2-ae80-4f39-ac6f-c2dbc2e8b820	906935a6-9e29-4146-a7a0-d60f2507e774	g.chr2:160287661T>C	ENST00000392783.2	-	10	2402	c.1907A>G	c.(1906-1908)gAt>gGt	p.D636G	BAZ2B_ENST00000392782.1_Missense_Mutation_p.D634G|BAZ2B_ENST00000355831.2_Missense_Mutation_p.D636G|BAZ2B_ENST00000343439.5_Intron	NM_013450.2	NP_038478.2	Q9UIF8	BAZ2B_HUMAN	bromodomain adjacent to zinc finger domain, 2B	636	Asp/Glu-rich (acidic).				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.D636G(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	82						TGAATTACTATCTGATTCTGG	0.343																																						ENST00000392783.2																			1	Substitution - Missense(1)	p.D636G(1)	prostate(1)	NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	82						c.(1906-1908)gAt>gGt		bromodomain adjacent to zinc finger domain, 2B							106	93	97					2																	160287661		1838	4086	5924	SO:0001583	missense	29994				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr2:160287661T>C	AB032255	CCDS2209.2, CCDS74594.1	2q24.2	2013-01-28			ENSG00000123636	ENSG00000123636		"Zinc fingers, PHD-type"	963	protein-coding gene	gene with protein product		605683				10662543	Standard	XM_005246488		Approved	WALp4	uc002uao.3	Q9UIF8	OTTHUMG00000132027	ENST00000392783.2:c.1907A>G	2.37:g.160287661T>C	ENSP00000376534:p.Asp636Gly					BAZ2B_ENST00000392782.1_Missense_Mutation_p.D634G|BAZ2B_ENST00000355831.2_Missense_Mutation_p.D636G|BAZ2B_ENST00000343439.5_Intron	p.D636G	NM_013450.2	NP_038478.2	Q9UIF8	BAZ2B_HUMAN			10	2402	-			636			Asp/Glu-rich (acidic).		D3DPA8|Q96EA1|Q96SQ8|Q9P252|Q9Y4N8	Missense_Mutation	SNP	ENST00000392783.2	37	c.1907A>G	CCDS2209.2	.	.	.	.	.	.	.	.	.	.	T	16.96	3.265777	0.59540	.	.	ENSG00000123636	ENST00000392782;ENST00000392783;ENST00000355831	T;T;T	0.21543	2.0;2.0;2.0	5.76	5.76	0.90799	.	0.000000	0.37955	U	0.001870	T	0.32941	0.0846	L	0.27053	0.805	0.80722	D	1	D;D;D	0.71674	0.998;0.998;0.996	D;D;P	0.68765	0.96;0.942;0.877	T	0.03945	-1.0990	10	0.37606	T	0.19	-16.2577	16.0663	0.80878	0.0:0.0:0.0:1.0	.	440;634;636	Q9UIF8-4;Q9UIF8-5;Q9UIF8	.;.;BAZ2B_HUMAN	G	634;636;636	ENSP00000376533:D634G;ENSP00000376534:D636G;ENSP00000348087:D636G	ENSP00000348087:D636G	D	-	2	0	BAZ2B	159995907	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.597000	0.74118	2.196000	0.70406	0.533000	0.62120	GAT		0.343	BAZ2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255037.2			16	34	0	0	0	1	0	16	34					C	160287661	T	C	160287661	3	2	172	1	0	0	0	0	1	0	0	0	1332	1435	50	4	4711	4	BAZ2B	2	160287661	Missense_Mutation	SNP	T	TCGA-G9-6373-01A-11D-1786-08	18607039	160287661	82911712	7	8157											
ASB1	51665	broad.mit.edu	37	chr2	239344476	239344476	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggaagggggccgaggtggatCtggtggacgtaaaaggacag	11	5	20	5	2	1	0	0	0	1	0	1	5	1	4	1	8	0	1	1	8	3	1	rs553675559		TCGA-G9-6373-01A-11D-1786-08	TCGA-G9-6373-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0caf5af2-ae80-4f39-ac6f-c2dbc2e8b820	906935a6-9e29-4146-a7a0-d60f2507e774	g.chr2:239344476C>G	ENST00000264607.4	+	3	563	c.316C>G	c.(316-318)Ctg>Gtg	p.L106V	ASB1_ENST00000409297.1_Intron|ASB1_ENST00000469885.1_3'UTR	NM_001040445.1	NP_001035535.1	Q9Y576	ASB1_HUMAN	ankyrin repeat and SOCS box containing 1	106					intracellular signal transduction (GO:0035556)|male genitalia development (GO:0030539)|negative regulation of cytokine biosynthetic process (GO:0042036)|protein ubiquitination (GO:0016567)	intracellular (GO:0005622)				breast(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1)	8		all_epithelial(40;2.65e-14)|Breast(86;7.61e-05)|Renal(207;0.00183)|all_lung(227;0.0283)|Ovarian(221;0.0365)|Lung NSC(271;0.0941)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;2.04e-26)|OV - Ovarian serous cystadenocarcinoma(60;4.5e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;2.88e-05)|Lung(119;0.000383)|LUSC - Lung squamous cell carcinoma(224;0.00644)		CGAGGTGGATCTGGTGGACGT	0.632													C|||	1	0.000199681	8e-04	0	5008	,	,		17846	0		0	False		,,,				2504	0					ENST00000264607.4																			0				breast(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1)	8						c.(316-318)Ctg>Gtg		ankyrin repeat and SOCS box containing 1							63	59	61					2																	239344476		2203	4300	6503	SO:0001583	missense	51665				intracellular signal transduction|negative regulation of cytokine biosynthetic process			g.chr2:239344476C>G	AF156777	CCDS33416.1	2q37	2013-01-10	2011-01-25		ENSG00000065802	ENSG00000065802		"Ankyrin repeat domain containing"	16011	protein-coding gene	gene with protein product		605758	"ankyrin repeat and SOCS box-containing 1"				Standard	XR_241235		Approved	ASB-1	uc002vyg.3	Q9Y576	OTTHUMG00000152866	ENST00000264607.4:c.316C>G	2.37:g.239344476C>G	ENSP00000264607:p.Leu106Val					ASB1_ENST00000469885.1_3'UTR|ASB1_ENST00000409297.1_Intron	p.L106V	NM_001040445.1	NP_001035535.1	Q9Y576	ASB1_HUMAN		Epithelial(121;2.04e-26)|OV - Ovarian serous cystadenocarcinoma(60;4.5e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;2.88e-05)|Lung(119;0.000383)|LUSC - Lung squamous cell carcinoma(224;0.00644)	3	563	+		all_epithelial(40;2.65e-14)|Breast(86;7.61e-05)|Renal(207;0.00183)|all_lung(227;0.0283)|Ovarian(221;0.0365)|Lung NSC(271;0.0941)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Hepatocellular(293;0.244)	106					A6NL50|Q4ZG29|Q9ULS4	Missense_Mutation	SNP	ENST00000264607.4	37	c.316C>G	CCDS33416.1	.	.	.	.	.	.	.	.	.	.	C	15.49	2.850296	0.51270	.	.	ENSG00000065802	ENST00000264607	T	0.53206	0.63	5.58	5.58	0.84498	Ankyrin repeat-containing domain (4);	0.000000	0.85682	D	0.000000	T	0.57975	0.2090	N	0.26092	0.79	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	T	0.53514	-0.8428	10	0.30854	T	0.27	.	19.5671	0.95398	0.0:1.0:0.0:0.0	.	106	Q9Y576	ASB1_HUMAN	V	106	ENSP00000264607:L106V	ENSP00000264607:L106V	L	+	1	2	ASB1	239009215	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	3.378000	0.52432	2.629000	0.89072	0.650000	0.86243	CTG		0.632	ASB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328294.1	NM_001040445		6	104	0	0	0	1	0	6	104					G	239344476	C	G	239344476	3	3	172	1	0	0	0	0	1	0	0	0	1013	912	32	5	326	5	ASB1	2	239344476	Missense_Mutation	SNP	C	TCGA-G9-6373-01A-11D-1786-08	79056815	239344476	3854897	8	8158											
SCN5A	6331	broad.mit.edu	37	chr3	38627292	38627292	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccactctccacagaggatgcGgaagatgatgaggaaggcat	13	6	13	9	1	1	4	0	2	1	2	2	7	1	7	2	4	1	1	2	4	2	0	rs199473171		TCGA-G9-6373-01A-11D-1786-08	TCGA-G9-6373-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0caf5af2-ae80-4f39-ac6f-c2dbc2e8b820	906935a6-9e29-4146-a7a0-d60f2507e774	g.chr3:38627292G>A	ENST00000333535.4	-	16	2826	c.2677C>T	c.(2677-2679)Cgc>Tgc	p.R893C	SCN5A_ENST00000449557.2_Missense_Mutation_p.R893C|SCN5A_ENST00000423572.2_Missense_Mutation_p.R893C|SCN5A_ENST00000414099.2_Missense_Mutation_p.R893C|SCN5A_ENST00000451551.2_Missense_Mutation_p.R893C|SCN5A_ENST00000450102.2_Missense_Mutation_p.R893C|SCN5A_ENST00000413689.1_Missense_Mutation_p.R893C|SCN5A_ENST00000443581.1_Missense_Mutation_p.R893C|SCN5A_ENST00000455624.2_Missense_Mutation_p.R893C|SCN5A_ENST00000425664.1_Missense_Mutation_p.R893C			Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	893					AV node cell to bundle of His cell communication (GO:0086067)|brainstem development (GO:0003360)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cardiac muscle cell action potential involved in contraction (GO:0086002)|cardiac muscle contraction (GO:0060048)|cardiac ventricle development (GO:0003231)|cellular response to calcium ion (GO:0071277)|cerebellum development (GO:0021549)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane depolarization during SA node cell action potential (GO:0086046)|neuronal action potential (GO:0019228)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of action potential (GO:0045760)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of sodium ion transport (GO:0010765)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of sodium ion transmembrane transport (GO:1902305)|regulation of ventricular cardiac muscle cell membrane depolarization (GO:0060373)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|telencephalon development (GO:0021537)|ventricular cardiac muscle cell action potential (GO:0086005)	caveola (GO:0005901)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	ankyrin binding (GO:0030506)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|fibroblast growth factor binding (GO:0017134)|ion channel binding (GO:0044325)|nitric-oxide synthase binding (GO:0050998)|protein kinase binding (GO:0019901)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)|voltage-gated sodium channel activity (GO:0005248)|voltage-gated sodium channel activity involved in cardiac muscle cell action potential (GO:0086006)	p.R893C(2)		NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Ajmaline(DB01426)|Aprindine(DB01429)|Benzonatate(DB00868)|Carbamazepine(DB00564)|Cinchocaine(DB00527)|Cocaine(DB00907)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lidocaine(DB00281)|Mexiletine(DB00379)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine barbiturate(DB01346)|Quinidine(DB00908)|Ranolazine(DB00243)|Riluzole(DB00740)|Tocainide(DB01056)|Valproic Acid(DB00313)|Verapamil(DB00661)|Zonisamide(DB00909)	CAGAGGATGCGGAAGATGATG	0.547																																						ENST00000413689.1																			2	Substitution - Missense(2)	p.R893C(2)	prostate(2)	NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107						c.(2677-2679)Cgc>Tgc		sodium channel, voltage-gated, type V, alpha subunit	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)						149	146	147					3																	38627292		2201	4300	6501	SO:0001583	missense	6331				blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity	g.chr3:38627292G>A	AJ310893	CCDS46796.1, CCDS46797.1, CCDS46798.1, CCDS46799.1, CCDS54569.1, CCDS54570.1	3p21	2014-09-17	2007-01-23		ENSG00000183873	ENSG00000183873		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10593	protein-coding gene	gene with protein product	"long QT syndrome 3"	600163	"sodium channel, voltage-gated, type V, alpha (long QT syndrome 3)"	CMD1E		7842012, 15466643, 16382098	Standard	NM_198056		Approved	Nav1.5, LQT3, HB1, HBBD, PFHB1, IVF, HB2, HH1, SSS1, CDCD2, CMPD2, ICCD	uc021wvl.1	Q14524	OTTHUMG00000156166	ENST00000333535.4:c.2677C>T	3.37:g.38627292G>A	ENSP00000328968:p.Arg893Cys					SCN5A_ENST00000425664.1_Missense_Mutation_p.R893C|SCN5A_ENST00000423572.2_Missense_Mutation_p.R893C|SCN5A_ENST00000414099.2_Missense_Mutation_p.R893C|SCN5A_ENST00000333535.4_Missense_Mutation_p.R893C|SCN5A_ENST00000443581.1_Missense_Mutation_p.R893C|SCN5A_ENST00000455624.2_Missense_Mutation_p.R893C|SCN5A_ENST00000451551.2_Missense_Mutation_p.R893C|SCN5A_ENST00000450102.2_Missense_Mutation_p.R893C|SCN5A_ENST00000449557.2_Missense_Mutation_p.R893C	p.R893C	NM_001099404.1|NM_001160160.1	NP_001092874.1|NP_001153632.1	Q14524	SCN5A_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	16	2870	-	Medulloblastoma(35;0.163)		893					A5H1P8|A6N922|A6N923|B2RTU0|E7ET19|E9PEF3|E9PEK2|E9PFW7|Q59H93|Q75RX9|Q75RY0|Q86UR3|Q8IZC9|Q96J69	Missense_Mutation	SNP	ENST00000333535.4	37	c.2677C>T	CCDS46796.1	.	.	.	.	.	.	.	.	.	.	G	19.09	3.759321	0.69763	.	.	ENSG00000183873	ENST00000414099;ENST00000423572;ENST00000413689;ENST00000451551;ENST00000443581;ENST00000425664;ENST00000333535;ENST00000455624;ENST00000450102;ENST00000449557	D;D;D;D;D;D;D;D;D;D	0.98901	-5.22;-5.22;-5.22;-5.22;-5.22;-5.22;-5.22;-5.22;-5.22;-5.22	4.17	4.17	0.49024	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99530	0.9832	H	0.99011	4.4	0.58432	D	0.999997	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.91635	0.998;0.998;0.998;0.995;0.959;0.999;0.978	D	0.97617	1.0133	10	0.87932	D	0	.	16.6604	0.85239	0.0:0.0:1.0:0.0	.	893;893;893;893;893;893;893	E9PEF3;E9PHB6;Q14524-6;E9PG18;Q14524;Q14524-2;E9PEK2	.;.;.;.;SCN5A_HUMAN;.;.	C	893	ENSP00000398962:R893C;ENSP00000398266:R893C;ENSP00000410257:R893C;ENSP00000388797:R893C;ENSP00000397915:R893C;ENSP00000416634:R893C;ENSP00000328968:R893C;ENSP00000399524:R893C;ENSP00000403355:R893C;ENSP00000413996:R893C	ENSP00000328968:R893C	R	-	1	0	SCN5A	38602296	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.207000	0.72159	2.169000	0.68431	0.462000	0.41574	CGC		0.547	SCN5A-014	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000377958.1	NM_198056		9	221	0	0	0	1	0	9	221					A	38627292	G	A	38627292	3	1	172	1	0	0	0	0	1	0	0	0	13922	1116	39	2	3425	2	SCN5A	3	38627292	Missense_Mutation	SNP	G	TCGA-G9-6373-01A-11D-1786-08		38627292	159395138	9	8159											
PLCH1	23007	broad.mit.edu	37	chr3	155206588	155206588	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	agtgtttcttcccacacaggGttaaatcctcagagaaatag	13	11	8	9	0	2	1	1	0	1	1	4	2	4	1	2	1	0	2	2	1	4	4			TCGA-G9-6373-01A-11D-1786-08	TCGA-G9-6373-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0caf5af2-ae80-4f39-ac6f-c2dbc2e8b820	906935a6-9e29-4146-a7a0-d60f2507e774	g.chr3:155206588G>A	ENST00000340059.7	-	19	2363	c.2364C>T	c.(2362-2364)aaC>aaT	p.N788N	PLCH1_ENST00000494598.1_Silent_p.N788N|PLCH1_ENST00000414191.1_Silent_p.N770N|PLCH1_ENST00000334686.6_Silent_p.N770N|PLCH1_ENST00000460012.1_Silent_p.N770N|PLCH1-AS2_ENST00000472913.1_RNA|PLCH1_ENST00000447496.2_Silent_p.N788N	NM_001130960.1	NP_001124432.1	Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	788	C2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				inositol phosphate metabolic process (GO:0043647)|lipid catabolic process (GO:0016042)|phosphatidylinositol-mediated signaling (GO:0048015)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent phospholipase C activity (GO:0050429)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871)	p.N770N(1)		NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			CCCACACAGGGTTAAATCCTC	0.428																																						ENST00000460012.1																			1	Substitution - coding silent(1)	p.N770N(1)	prostate(1)	NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107						c.(2308-2310)aaC>aaT		phospholipase C, eta 1							90	84	86					3																	155206588		2203	4300	6503	SO:0001819	synonymous_variant	23007				lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr3:155206588G>A	AB028992	CCDS33881.1, CCDS46939.1, CCDS46940.1	3q25	2013-01-10	2006-03-16	2006-03-16	ENSG00000114805	ENSG00000114805	3.1.4.11	"EF-hand domain containing"	29185	protein-coding gene	gene with protein product		612835	"phospholipase C-like 3"	PLCL3		15702972	Standard	NM_014996		Approved	KIAA1069, MGC117152, DKFZp434C1372, PLCeta1	uc021xge.1	Q4KWH8	OTTHUMG00000158477	ENST00000340059.7:c.2364C>T	3.37:g.155206588G>A						PLCH1_ENST00000447496.2_Silent_p.N788N|PLCH1_ENST00000414191.1_Silent_p.N770N|PLCH1_ENST00000494598.1_Silent_p.N788N|PLCH1_ENST00000340059.7_Silent_p.N788N|PLCH1_ENST00000334686.6_Silent_p.N770N	p.N770N			Q4KWH8	PLCH1_HUMAN	Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)		20	2667	-			788			C2.		Q29RV9|Q4KWH9|Q68CN0|Q86XK4|Q9H9U2|Q9UPT3	Silent	SNP	ENST00000340059.7	37	c.2310C>T	CCDS46939.1																																																																																				0.428	PLCH1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000351125.1	NM_014996		22	46	0	0	0	1	0	22	46					A	155206588	G	A	155206588	2	1	172	1	0	0	0	0	0	0	0	1	12037	1252	44	3		3	PLCH1	3	155206588	Silent	SNP	G	TCGA-G9-6373-01A-11D-1786-08	116579296	155206588	42815842	10	8160											
BCL6	604	broad.mit.edu	37	chr3	187447543	187447543	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aggggttggccacaggcatcCggacatcccgaaactcctca	10	6	11	14	2	1	0	1	0	0	0	4	2	4	1	4	5	1	2	4	5	1	1	rs142220629		TCGA-G9-6373-01A-11D-1786-08	TCGA-G9-6373-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0caf5af2-ae80-4f39-ac6f-c2dbc2e8b820	906935a6-9e29-4146-a7a0-d60f2507e774	g.chr3:187447543C>T	ENST00000406870.2	-	5	1016	c.650G>A	c.(649-651)cGg>cAg	p.R217Q	BCL6_ENST00000450123.2_Missense_Mutation_p.R217Q|BCL6_ENST00000232014.4_Missense_Mutation_p.R217Q|RP11-211G3.3_ENST00000437407.1_Intron|RP11-211G3.3_ENST00000449623.1_Intron	NM_001706.4	NP_001697.2	P41182	BCL6_HUMAN	B-cell CLL/lymphoma 6	217					actin cytoskeleton organization (GO:0030036)|B cell differentiation (GO:0030183)|cell morphogenesis (GO:0000902)|cellular response to DNA damage stimulus (GO:0006974)|erythrocyte development (GO:0048821)|germinal center formation (GO:0002467)|inflammatory response (GO:0006954)|negative regulation of B cell apoptotic process (GO:0002903)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of isotype switching to IgE isotypes (GO:0048294)|negative regulation of mast cell cytokine production (GO:0032764)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of T-helper 2 cell differentiation (GO:0045629)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of type 2 immune response (GO:0002829)|positive regulation of apoptotic process (GO:0043065)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cellular component movement (GO:0051272)|protein import into nucleus, translocation (GO:0000060)|regulation of germinal center formation (GO:0002634)|regulation of immune response (GO:0050776)|regulation of inflammatory response (GO:0050727)|regulation of memory T cell differentiation (GO:0043380)|regulation of Rho GTPase activity (GO:0032319)|Rho protein signal transduction (GO:0007266)|spermatogenesis (GO:0007283)|type 2 immune response (GO:0042092)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|metal ion binding (GO:0046872)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R217Q(1)		central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(9)|lung(10)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	40	all_cancers(143;9.45e-12)|Ovarian(172;0.0418)		OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.0141)		CACAGGCATCCGGACATCCCG	0.612			"T, Mis"	"IG loci, ZNFN1A1, LCP1, PIM1, TFRC, CIITA, NACA, HSPCB, HSPCA, HIST1H4I, IL21R,  POU2AF1, ARHH, EIF4A2, SFRS3"	"NHL, CLL"																																	ENST00000406870.2				Dom	yes		3	3q27	604	"T, Mis"	B-cell CLL/lymphoma 6			L	"IG loci, ZNFN1A1, LCP1, PIM1, TFRC, CIITA, NACA, HSPCB, HSPCA, HIST1H4I, IL21R,  POU2AF1, ARHH, EIF4A2, SFRS3"		"NHL, CLL"		1	Substitution - Missense(1)	p.R217Q(1)	prostate(1)	central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(9)|lung(10)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	40						c.(649-651)cGg>cAg		B-cell CLL/lymphoma 6		C	GLN/ARG,GLN/ARG,GLN/ARG	2,4404	4.2+/-10.8	0,2,2201	43	43	43		650,650,650	5.4	1	3	dbSNP_134	43	0,8600		0,0,4300	no	missense,missense,missense	BCL6	NM_001130845.1,NM_001134738.1,NM_001706.4	43,43,43	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	benign,benign,benign	217/707,217/651,217/707	187447543	2,13004	2203	4300	6503	SO:0001583	missense	604				negative regulation of B cell apoptosis|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|protein import into nucleus, translocation|regulation of germinal center formation|response to DNA damage stimulus	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr3:187447543C>T		CCDS3289.1, CCDS46975.1	3q27	2013-01-09	2008-08-01		ENSG00000113916	ENSG00000113916		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	1001	protein-coding gene	gene with protein product		109565	"zinc finger protein 51"	ZNF51			Standard	NM_001130845		Approved	ZBTB27, LAZ3, BCL5, BCL6A	uc003frq.2	P41182	OTTHUMG00000156441	ENST00000406870.2:c.650G>A	3.37:g.187447543C>T	ENSP00000384371:p.Arg217Gln					RP11-211G3.3_ENST00000449623.1_Intron|RP11-211G3.3_ENST00000437407.1_Intron|BCL6_ENST00000450123.2_Missense_Mutation_p.R217Q|BCL6_ENST00000232014.4_Missense_Mutation_p.R217Q	p.R217Q	NM_001706.4	NP_001697.2	P41182	BCL6_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.0141)	5	1016	-	all_cancers(143;9.45e-12)|Ovarian(172;0.0418)		217					A7E241|B8PSA7|D3DNV5	Missense_Mutation	SNP	ENST00000406870.2	37	c.650G>A	CCDS3289.1	.	.	.	.	.	.	.	.	.	.	C	15.99	2.994786	0.54041	4.54E-4	0.0	ENSG00000113916	ENST00000406870;ENST00000232014;ENST00000450123	T;T;T	0.08193	3.12;3.12;3.12	5.41	5.41	0.78517	.	0.102064	0.64402	D	0.000004	T	0.12902	0.0313	N	0.16478	0.41	0.37023	D	0.896294	B;D	0.64830	0.052;0.994	B;D	0.64042	0.006;0.921	T	0.14839	-1.0458	10	0.38643	T	0.18	.	12.0196	0.53336	0.0:0.9208:0.0:0.0792	.	217;217	B8PSA7;P41182	.;BCL6_HUMAN	Q	217	ENSP00000384371:R217Q;ENSP00000232014:R217Q;ENSP00000413122:R217Q	ENSP00000232014:R217Q	R	-	2	0	BCL6	188930237	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	4.424000	0.59868	2.729000	0.93468	0.556000	0.70494	CGG		0.612	BCL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344202.1	NM_138931		20	51	0	0	0	1	0	20	51					T	187447543	C	T	187447543	3	4	172	1	0	0	0	0	1	0	0	0	1376	652	23	2	1494	2	BCL6	3	187447543	Missense_Mutation	SNP	C	TCGA-G9-6373-01A-11D-1786-08	32240955	187447543	10574887	11	8161											
NAF1	92345	broad.mit.edu	37	chr4	164050124	164050124	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtggtggagggggagggggTgggggtagggagtatggtaa	8	7	26	0	0	0	0	0	0	0	0	0	3	0	3	0	10	0	3	0	10	3	3			TCGA-G9-6373-01A-11D-1786-08	TCGA-G9-6373-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0caf5af2-ae80-4f39-ac6f-c2dbc2e8b820	906935a6-9e29-4146-a7a0-d60f2507e774	g.chr4:164050124T>G	ENST00000274054.2	-	8	1603	c.1410A>C	c.(1408-1410)ccA>ccC	p.P470P	NAF1_ENST00000422287.2_Intron|NAF1_ENST00000509434.1_Intron	NM_138386.2	NP_612395.2	Q96HR8	NAF1_HUMAN	nuclear assembly factor 1 ribonucleoprotein	470	Pro-rich.				pseudouridine synthesis (GO:0001522)|ribosome biogenesis (GO:0042254)|rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|small nucleolar ribonucleoprotein complex (GO:0005732)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(3)|large_intestine(1)|lung(10)|ovary(2)	21	all_hematologic(180;0.166)	Prostate(90;0.109)				ggggagggggtgggggtaggg	0.522																																						ENST00000274054.2																			0				NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(3)|large_intestine(1)|lung(10)|ovary(2)	21						c.(1408-1410)ccA>ccC		nuclear assembly factor 1 ribonucleoprotein							10	10	10					4																	164050124		2188	4274	6462	SO:0001819	synonymous_variant	92345				rRNA processing|snRNA pseudouridine synthesis	cytoplasm|nucleus|small nucleolar ribonucleoprotein complex	protein binding|snoRNA binding	g.chr4:164050124T>G		CCDS3803.1, CCDS47159.1	4q32.2	2013-03-05	2013-03-05			ENSG00000145414			25126	protein-coding gene	gene with protein product			"nuclear assembly factor 1 homolog (S. cerevisiae)"			16618814, 16601202	Standard	NM_138386		Approved		uc003iqj.3	Q96HR8		ENST00000274054.2:c.1410A>C	4.37:g.164050124T>G						NAF1_ENST00000509434.1_Intron|NAF1_ENST00000422287.2_Intron	p.P470P	NM_138386.2	NP_612395.2	Q96HR8	NAF1_HUMAN			8	1603	-	all_hematologic(180;0.166)	Prostate(90;0.109)	470			Pro-rich.		D3DP28|E9PAZ2	Silent	SNP	ENST00000274054.2	37	c.1410A>C	CCDS3803.1																																																																																				0.522	NAF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364684.2	NM_138386		3	3	0	0	0	1	0	3	3					G	164050124	T	G	164050124	2	3	172	1	0	0	0	0	0	0	0	1	10140	1683	59	5		5	NAF1	4	164050124	Silent	SNP	T	TCGA-G9-6373-01A-11D-1786-08		164050124	27104152	12	8162											
HPGD	3248	broad.mit.edu	37	chr4	175416699	175416699	+	Splice_Site	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gacggttgttgtagcctcacCgctgctgagcgtgtgaatcc	6	11	13	11	3	1	2	1	2	0	0	2	3	2	2	3	1	3	5	3	1	2	3	rs200828629		TCGA-G9-6373-01A-11D-1786-08	TCGA-G9-6373-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0caf5af2-ae80-4f39-ac6f-c2dbc2e8b820	906935a6-9e29-4146-a7a0-d60f2507e774	g.chr4:175416699C>A	ENST00000296522.6	-	5	944	c.498G>T	c.(496-498)gcG>gcT	p.A166A	HPGD_ENST00000510901.1_Splice_Site_p.A45A|HPGD_ENST00000541923.1_Splice_Site_p.A45A|HPGD_ENST00000422112.2_Splice_Site_p.A98A|HPGD_ENST00000296521.7_Splice_Site_p.A166A|HPGD_ENST00000542498.1_Intron	NM_000860.5|NM_001145816.2|NM_001256301.1|NM_001256307.1	NP_000851.2|NP_001139288.1|NP_001243230.1|NP_001243236.1	P15428	PGDH_HUMAN	hydroxyprostaglandin dehydrogenase 15-(NAD)	166					arachidonic acid metabolic process (GO:0019369)|cyclooxygenase pathway (GO:0019371)|ductus arteriosus closure (GO:0097070)|female pregnancy (GO:0007565)|lipoxin metabolic process (GO:2001300)|lipoxygenase pathway (GO:0019372)|negative regulation of cell cycle (GO:0045786)|ovulation (GO:0030728)|parturition (GO:0007567)|prostaglandin metabolic process (GO:0006693)|small molecule metabolic process (GO:0044281)|thrombin receptor signaling pathway (GO:0070493)|transforming growth factor beta receptor signaling pathway (GO:0007179)	basolateral plasma membrane (GO:0016323)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	15-hydroxyprostaglandin dehydrogenase (NAD+) activity (GO:0016404)|catalytic activity (GO:0003824)|NAD binding (GO:0051287)|NAD+ binding (GO:0070403)|prostaglandin E receptor activity (GO:0004957)|protein homodimerization activity (GO:0042803)	p.A166A(1)		kidney(1)|lung(3)|prostate(3)	7		Prostate(90;0.00763)|Melanoma(52;0.0179)|Renal(120;0.0376)|Breast(14;0.0991)|all_hematologic(60;0.124)|all_neural(102;0.196)		all cancers(43;2.6e-18)|Epithelial(43;4.19e-16)|OV - Ovarian serous cystadenocarcinoma(60;5.23e-09)|GBM - Glioblastoma multiforme(59;0.00176)|STAD - Stomach adenocarcinoma(60;0.00299)|LUSC - Lung squamous cell carcinoma(193;0.0253)		GTAGCCTCACCGCTGCTGAGC	0.408																																						ENST00000296522.6																			1	Substitution - coding silent(1)	p.A166A(1)	prostate(1)	kidney(1)|lung(3)|prostate(3)	7						c.e5+1		hydroxyprostaglandin dehydrogenase 15-(NAD)	NADH(DB00157)						91	81	85					4																	175416699		2203	4300	6503	SO:0001630	splice_region_variant	3248				female pregnancy|lipoxygenase pathway|negative regulation of cell cycle|parturition|prostaglandin metabolic process|transforming growth factor beta receptor signaling pathway	cytosol|nucleus	15-hydroxyprostaglandin dehydrogenase (NAD+) activity|NAD+ binding|prostaglandin E receptor activity|protein homodimerization activity	g.chr4:175416699C>A		CCDS3821.1, CCDS54821.1, CCDS58933.1, CCDS58934.1, CCDS58935.1	4q34-q35	2011-09-14			ENSG00000164120	ENSG00000164120	1.1.1.141	"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"	5154	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 36C, member 1"	601688				19027726	Standard	NM_000860		Approved	SDR36C1	uc003itu.3	P15428	OTTHUMG00000160772	ENST00000296522.6:c.498+1G>T	4.37:g.175416699C>A						HPGD_ENST00000510901.1_Splice_Site_p.A45_splice|HPGD_ENST00000542498.1_Intron|HPGD_ENST00000422112.2_Splice_Site_p.A98_splice|HPGD_ENST00000296521.7_Splice_Site_p.A166_splice|HPGD_ENST00000541923.1_Splice_Site_p.A45_splice	p.A166_splice	NM_000860.5|NM_001145816.2|NM_001256301.1|NM_001256307.1	NP_000851.2|NP_001139288.1|NP_001243230.1|NP_001243236.1	P15428	PGDH_HUMAN		all cancers(43;2.6e-18)|Epithelial(43;4.19e-16)|OV - Ovarian serous cystadenocarcinoma(60;5.23e-09)|GBM - Glioblastoma multiforme(59;0.00176)|STAD - Stomach adenocarcinoma(60;0.00299)|LUSC - Lung squamous cell carcinoma(193;0.0253)	5	944	-		Prostate(90;0.00763)|Melanoma(52;0.0179)|Renal(120;0.0376)|Breast(14;0.0991)|all_hematologic(60;0.124)|all_neural(102;0.196)	166					B4DTA4|B4DU74|B4DV57|D3DP43|E7EV11|O00749|Q06F08|Q12998	Splice_Site	SNP	ENST00000296522.6	37	c.498_splice	CCDS3821.1																																																																																				0.408	HPGD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362228.3		Silent	39	51	1	0	9.39024e-22	1	1.01316e-21	39	51					A	175416699	C	A	175416699	5	1	172	1	0	0	0	0	0	0	1	0	7334	666	23	5	314	5	HPGD	4	175416699	Splice_Site	SNP	C	TCGA-G9-6373-01A-11D-1786-08	11366575	175416699	15737577	13	8163											
ACTBL2	345651	broad.mit.edu	37	chr5	56778328	56778328	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	actccatgctcgataggataCttcagggtcaggacgcctct	9	10	10	12	2	3	0	2	0	1	0	5	3	4	2	2	3	2	1	2	3	2	3			TCGA-G9-6373-01A-11D-1786-08	TCGA-G9-6373-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0caf5af2-ae80-4f39-ac6f-c2dbc2e8b820	906935a6-9e29-4146-a7a0-d60f2507e774	g.chr5:56778328C>A	ENST00000423391.1	-	1	308	c.207G>T	c.(205-207)aaG>aaT	p.K69N	CTD-2023N9.1_ENST00000506106.1_RNA|AC025470.1_ENST00000584598.1_RNA	NM_001017992.3	NP_001017992.1	Q562R1	ACTBL_HUMAN	actin, beta-like 2	69						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)	p.K69N(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(3)|pancreas(1)|prostate(2)	28		Lung NSC(810;0.000135)|Prostate(74;0.055)|Breast(144;0.0707)|Ovarian(174;0.182)		OV - Ovarian serous cystadenocarcinoma(10;4.24e-37)		CGATAGGATACTTCAGGGTCA	0.547																																						ENST00000423391.1																			1	Substitution - Missense(1)	p.K69N(1)	prostate(1)	breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(3)|pancreas(1)|prostate(2)	28						c.(205-207)aaG>aaT		actin, beta-like 2							105	82	90					5																	56778328		2203	4300	6503	SO:0001583	missense	345651					cytoplasm|cytoskeleton	ATP binding	g.chr5:56778328C>A		CCDS34163.1	5q11.2	2014-08-08			ENSG00000169067	ENSG00000169067			17780	protein-coding gene	gene with protein product		614835					Standard	NM_001017992		Approved	DKFZp686D0972	uc003jrm.3	Q562R1	OTTHUMG00000162330	ENST00000423391.1:c.207G>T	5.37:g.56778328C>A	ENSP00000416706:p.Lys69Asn					CTD-2023N9.1_ENST00000506106.1_RNA	p.K69N	NM_001017992.3	NP_001017992.1	Q562R1	ACTBL_HUMAN		OV - Ovarian serous cystadenocarcinoma(10;4.24e-37)	1	308	-		Lung NSC(810;0.000135)|Prostate(74;0.055)|Breast(144;0.0707)|Ovarian(174;0.182)	69					B2RPJ1|Q562R2|Q562S9|Q562X8	Missense_Mutation	SNP	ENST00000423391.1	37	c.207G>T	CCDS34163.1	.	.	.	.	.	.	.	.	.	.	C	8.996	0.978830	0.18812	.	.	ENSG00000169067	ENST00000423391	D	0.90676	-2.71	4.78	2.05	0.26809	.	0.075099	0.49916	D	0.000121	D	0.89822	0.6826	M	0.73217	2.22	0.44469	D	0.997403	B	0.31054	0.306	B	0.40165	0.321	D	0.86018	0.1505	10	0.87932	D	0	.	7.6023	0.28083	0.0:0.7185:0.0:0.2815	.	69	Q562R1	ACTBL_HUMAN	N	69	ENSP00000416706:K69N	ENSP00000416706:K69N	K	-	3	2	ACTBL2	56814085	1.000000	0.71417	1.000000	0.80357	0.789000	0.44602	3.238000	0.51352	0.242000	0.21303	0.563000	0.77884	AAG		0.547	ACTBL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368579.1	NM_001017992		21	42	1	0	1.64293e-13	1	1.68401e-13	21	42					A	56778328	C	A	56778328	3	1	172	1	0	0	0	0	1	0	0	0	194	564	20	5	927	5	ACTBL2	5	56778328	Missense_Mutation	SNP	C	TCGA-G9-6373-01A-11D-1786-08		56778328	124136932	14	8164											
ZFYVE16	9765	broad.mit.edu	37	chr5	79752812	79752812	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agcatgtcattagcattggaGcaagtttcagtacagaagca	14	10	10	7	0	2	1	2	0	0	1	2	2	2	2	0	1	5	6	0	1	4	4			TCGA-G9-6373-01A-11D-1786-08	TCGA-G9-6373-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0caf5af2-ae80-4f39-ac6f-c2dbc2e8b820	906935a6-9e29-4146-a7a0-d60f2507e774	g.chr5:79752812G>A	ENST00000338008.5	+	13	4024	c.3844G>A	c.(3844-3846)Gca>Aca	p.A1282T	ZFYVE16_ENST00000505560.1_Missense_Mutation_p.A1282T|ZFYVE16_ENST00000510158.1_Missense_Mutation_p.A1282T	NM_001284236.1|NM_014733.3	NP_001271165.1|NP_055548	Q7Z3T8	ZFY16_HUMAN	zinc finger, FYVE domain containing 16	1282					BMP signaling pathway (GO:0030509)|endosomal transport (GO:0016197)|protein targeting to lysosome (GO:0006622)|regulation of endocytosis (GO:0030100)|signal transduction (GO:0007165)|vesicle organization (GO:0016050)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|early endosome membrane (GO:0031901)|intracellular membrane-bounded organelle (GO:0043231)	1-phosphatidylinositol binding (GO:0005545)|metal ion binding (GO:0046872)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|protein transporter activity (GO:0008565)	p.A1282T(1)		breast(4)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|liver(1)|lung(6)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Lung NSC(167;0.00428)|all_lung(232;0.00455)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;1.6e-46)|Epithelial(54;2.02e-41)|all cancers(79;5.05e-36)		TAGCATTGGAGCAAGTTTCAG	0.343																																					Melanoma(150;1452 1854 16018 17851 37292)	ENST00000338008.5																			1	Substitution - Missense(1)	p.A1282T(1)	prostate(1)	breast(4)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|liver(1)|lung(6)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51						c.(3844-3846)Gca>Aca		zinc finger, FYVE domain containing 16							87	83	84					5																	79752812		2203	4300	6503	SO:0001583	missense	9765				BMP signaling pathway|endosome transport|protein targeting to lysosome|regulation of endocytosis|vesicle organization	early endosome membrane	1-phosphatidylinositol binding|metal ion binding|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|protein transporter activity	g.chr5:79752812G>A	AB002303	CCDS4050.1	5q14.1	2012-09-20			ENSG00000039319	ENSG00000039319		"Zinc fingers, FYVE domain containing", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	20756	protein-coding gene	gene with protein product	"endofin", "protein phosphatase 1, regulatory subunit 69"	608880				11546807	Standard	NM_014733		Approved	KIAA0305, PPP1R69	uc003kgq.4	Q7Z3T8	OTTHUMG00000108178	ENST00000338008.5:c.3844G>A	5.37:g.79752812G>A	ENSP00000337159:p.Ala1282Thr					ZFYVE16_ENST00000505560.1_Missense_Mutation_p.A1282T|ZFYVE16_ENST00000510158.1_Missense_Mutation_p.A1282T	p.A1282T	NM_014733.3	NP_055548.3	Q7Z3T8	ZFY16_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;1.6e-46)|Epithelial(54;2.02e-41)|all cancers(79;5.05e-36)	13	4024	+		Lung NSC(167;0.00428)|all_lung(232;0.00455)|Ovarian(174;0.0261)	1282					O15023|Q5H9U2|Q7LAU7|Q86T69|Q8N5L3|Q8NEK3	Missense_Mutation	SNP	ENST00000338008.5	37	c.3844G>A	CCDS4050.1	.	.	.	.	.	.	.	.	.	.	G	35	5.415002	0.96092	.	.	ENSG00000039319	ENST00000338008;ENST00000510158;ENST00000505560	T;T;T	0.49139	0.79;0.79;0.79	5.9	5.9	0.94986	Domain of unknown function DUF3480 (1);	0.000000	0.56097	D	0.000025	T	0.68118	0.2966	M	0.71036	2.16	0.80722	D	1	D;D	0.60575	0.988;0.979	P;P	0.62560	0.904;0.864	T	0.69420	-0.5150	10	0.87932	D	0	-8.402	19.8771	0.96880	0.0:0.0:1.0:0.0	.	92;1282	B3KXA7;Q7Z3T8	.;ZFY16_HUMAN	T	1282	ENSP00000337159:A1282T;ENSP00000423663:A1282T;ENSP00000426848:A1282T	ENSP00000337159:A1282T	A	+	1	0	ZFYVE16	79788568	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.609000	0.98334	2.786000	0.95864	0.563000	0.77884	GCA		0.343	ZFYVE16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226982.2	NM_014733		21	42	0	0	0	1	0	21	42					A	79752812	G	A	79752812	3	1	172	1	0	0	0	0	1	0	0	0	17661	971	34	3	3890	3	ZFYVE16	5	79752812	Missense_Mutation	SNP	G	TCGA-G9-6373-01A-11D-1786-08	22974484	79752812	101162448	15	8165											
STK19	8859	broad.mit.edu	37	chr6	31939829	31939830	+	Frame_Shift_Ins	INS	-	-	A																															attcagcgacagtggcgggcINSaaacccctcccggggcgggg																										TCGA-G9-6373-01A-11D-1786-08	TCGA-G9-6373-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0caf5af2-ae80-4f39-ac6f-c2dbc2e8b820	906935a6-9e29-4146-a7a0-d60f2507e774	g.chr6:31939829_31939830insA	ENST00000375333.2	+	1	109_110	c.56_57insA	c.(55-60)gcaaacfs	p.N20fs	STK19_ENST00000375331.2_Frame_Shift_Ins_p.N20fs|DXO_ENST00000337523.5_5'UTR|DXO_ENST00000375349.3_5'UTR|DXO_ENST00000375356.3_5'Flank|DXO_ENST00000478221.1_5'UTR	NM_032454.1	NP_115830.1	P49842	STK19_HUMAN	serine/threonine kinase 19	20					protein phosphorylation (GO:0006468)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			skin(5)|upper_aerodigestive_tract(2)	7						CAGTGGCGGGCAAACCCCTCCC	0.634																																						ENST00000375331.2																			0				skin(5)|upper_aerodigestive_tract(2)	7						c.(55-57)gaafs		serine/threonine kinase 19																																				SO:0001589	frameshift_variant	8859					nucleus	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr6:31939829_31939830insA	X77474	CCDS4733.1, CCDS34417.1	6p21.33	2011-09-15			ENSG00000204344	ENSG00000204344			11398	protein-coding gene	gene with protein product		604977				8012361, 9812991	Standard	NM_032454		Approved	D6S60, G11, RP1	uc003nyv.3	P49842	OTTHUMG00000166424	ENST00000375333.2:c.59dupA	6.37:g.31939832_31939832dupA	ENSP00000364482:p.Asn20fs					DOM3Z_ENST00000375349.3_5'UTR|DOM3Z_ENST00000337523.5_5'UTR|DOM3Z_ENST00000478221.1_5'UTR|STK19_ENST00000375333.2_Frame_Shift_Ins_p.E19fs	p.E19fs	NM_004197.1	NP_004188.1	P49842	STK19_HUMAN			1	222_223	+			19					A6NF95|A6NFW8|B0QZR5|Q13159|Q31617|Q5JP77|Q5ST72|Q5ST75	Frame_Shift_Ins	INS	ENST00000375333.2	37	c.56_57insA	CCDS4733.1																																																																																				0.634	STK19-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000076484.3			7	250						7	250	---	---	---	---	A	31939830	-	A	31939829	7	5	172	1	0	1	1	0	0	0	0	0	15291	710	25	0	58	0	STK19	6	31939829	Frame_Shift_Ins	INS	-	TCGA-G9-6373-01A-11D-1786-08		31939829	139175238	16	8166											
DST	667	broad.mit.edu	37	chr6	56417898	56417898	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tctcacagacactgagcaagCtattggctgtgttgttcagt	9	13	10	9	0	2	2	2	1	1	1	3	2	2	2	0	1	2	5	0	1	2	4			TCGA-G9-6373-01A-11D-1786-08	TCGA-G9-6373-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0caf5af2-ae80-4f39-ac6f-c2dbc2e8b820	906935a6-9e29-4146-a7a0-d60f2507e774	g.chr6:56417898C>T	ENST00000361203.3	-	57	15066	c.15059G>A	c.(15058-15060)aGc>aAc	p.S5020N	DST_ENST00000244364.6_Missense_Mutation_p.S2608N|DST_ENST00000446842.2_Missense_Mutation_p.S4696N|DST_ENST00000370754.5_Missense_Mutation_p.S5200N|DST_ENST00000312431.6_3'UTR|DST_ENST00000421834.2_Missense_Mutation_p.S2934N|DST_ENST00000370769.4_Missense_Mutation_p.S5022N|DST_ENST00000370788.2_Missense_Mutation_p.S2934N			Q03001	DYST_HUMAN	dystonin	5020					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)	p.S2608N(1)|p.S5022N(1)		NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			ACTGAGCAAGCTATTGGCTGT	0.413																																						ENST00000370754.5																			2	Substitution - Missense(2)	p.S2608N(1)|p.S5022N(1)	prostate(2)	NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105						c.(15598-15600)aGc>aAc		dystonin							144	143	143					6																	56417898		1883	4131	6014	SO:0001583	missense	667				cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity	g.chr6:56417898C>T	M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"EF-hand domain containing"	1090	protein-coding gene	gene with protein product		113810	"bullous pemphigoid antigen 1, 230/240kDa"	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000361203.3:c.15059G>A	6.37:g.56417898C>T	ENSP00000354508:p.Ser5020Asn					DST_ENST00000421834.2_Missense_Mutation_p.S2934N|DST_ENST00000370788.2_Missense_Mutation_p.S2934N|DST_ENST00000361203.3_Missense_Mutation_p.S5020N|DST_ENST00000370769.4_Missense_Mutation_p.S5022N|DST_ENST00000312431.6_3'UTR|DST_ENST00000446842.2_Missense_Mutation_p.S4696N|DST_ENST00000244364.6_Missense_Mutation_p.S2608N	p.S5200N			Q03001	DYST_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)		61	15598	-	Lung NSC(77;0.103)		5020					B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Missense_Mutation	SNP	ENST00000361203.3	37	c.15599G>A		.	.	.	.	.	.	.	.	.	.	C	10.30	1.311194	0.23821	.	.	ENSG00000151914	ENST00000244364;ENST00000370754;ENST00000370769;ENST00000421834;ENST00000446842;ENST00000370788;ENST00000361203	T;T;T;T;T;T;T	0.35605	1.3;1.3;1.3;1.3;1.3;1.3;1.3	5.76	4.88	0.63580	.	0.092777	0.46442	D	0.000281	T	0.16557	0.0398	L	0.43701	1.375	0.24560	N	0.993971	P;B;B;B;B	0.44429	0.835;0.009;0.402;0.002;0.016	B;B;B;B;B	0.40199	0.322;0.019;0.17;0.002;0.028	T	0.03413	-1.1039	9	0.20046	T	0.44	.	11.9901	0.53169	0.0:0.8073:0.124:0.0687	.	2934;5022;5200;5020;2608	Q5TBT1;E7ERU2;E9PEB9;Q03001;Q03001-8	.;.;.;DYST_HUMAN;.	N	2608;5200;5022;2934;4696;2934;5020	ENSP00000244364:S2608N;ENSP00000359790:S5200N;ENSP00000359805:S5022N;ENSP00000400883:S2934N;ENSP00000393645:S4696N;ENSP00000359824:S2934N;ENSP00000354508:S5020N	ENSP00000244364:S2608N	S	-	2	0	DST	56525857	1.000000	0.71417	0.845000	0.33349	0.996000	0.88848	3.244000	0.51399	2.882000	0.98803	0.655000	0.94253	AGC		0.413	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000041021.3	NM_001723		98	183	0	0	0	1	0	98	183					T	56417898	C	T	56417898	3	4	172	1	0	0	0	0	1	0	0	0	4783	797	28	3	7864	3	DST	6	56417898	Missense_Mutation	SNP	C	TCGA-G9-6373-01A-11D-1786-08	24478069	56417898	114697169	17	8167											
LMTK2	22853	broad.mit.edu	37	chr7	97820131	97820132	+	Frame_Shift_Del	DEL	AG	AG	-																															atgtcctcaaccaagtcattAgagagagagacacaaaactc																										TCGA-G9-6373-01A-11D-1786-08	TCGA-G9-6373-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0caf5af2-ae80-4f39-ac6f-c2dbc2e8b820	906935a6-9e29-4146-a7a0-d60f2507e774	g.chr7:97820131_97820132delAG	ENST00000297293.5	+	10	1383_1384	c.1090_1091delAG	c.(1090-1092)agafs	p.R364fs		NM_014916.3	NP_055731.2	Q8IWU2	LMTK2_HUMAN	lemur tyrosine kinase 2	364	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				early endosome to late endosome transport (GO:0045022)|endocytic recycling (GO:0032456)|negative regulation of catalytic activity (GO:0043086)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|receptor recycling (GO:0001881)|transferrin transport (GO:0033572)	early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)	ATP binding (GO:0005524)|myosin VI binding (GO:0070853)|protein phosphatase inhibitor activity (GO:0004864)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3)	59	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)					CCAAGTCATTAGAGAGAGAGAC	0.495																																						ENST00000297293.5																			0				NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3)	59						c.(1090-1092)afs		lemur tyrosine kinase 2																																				SO:0001589	frameshift_variant	22853				early endosome to late endosome transport|endocytic recycling|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation|receptor recycling|transferrin transport	early endosome|Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|recycling endosome	ATP binding|myosin VI binding|protein phosphatase inhibitor activity|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr7:97820131_97820132delAG	AB029002	CCDS5654.1	7q22.1	2014-06-12			ENSG00000164715	ENSG00000164715			17880	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 100"	610989				15005709	Standard	NM_014916		Approved	KIAA1079, KPI2, KPI-2, cprk, LMR2, BREK, AATYK2, PPP1R100	uc003upd.2	Q8IWU2	OTTHUMG00000154256	ENST00000297293.5:c.1090_1091delAG	7.37:g.97820139_97820140delAG	ENSP00000297293:p.Arg364fs						p.R364fs	NM_014916.3	NP_055731.2	Q8IWU2	LMTK2_HUMAN			10	1383_1384	+	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)		364			Protein kinase.		A4D272|Q75MG7|Q9UPS3	Frame_Shift_Del	DEL	ENST00000297293.5	37	c.1090_1091delAG	CCDS5654.1																																																																																				0.495	LMTK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334560.1	NM_014916		7	672						7	672	---	---	---	---	-	97820132	AG	-	97820131	7	5	172	1	0	1	0	1	0	0	0	0	8859	412	15	0	1128	0	LMTK2	7	97820131	Frame_Shift_Del	DEL	AG	TCGA-G9-6373-01A-11D-1786-08		97820131	61318532	18	8168											
MLL3	58508	broad.mit.edu	37	chr7	151904428	151904429	+	Frame_Shift_Ins	INS	-	-	A																															tctttttgacaccatctgttINSccttccactcccttagtttc																										TCGA-G9-6373-01A-11D-1786-08	TCGA-G9-6373-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0caf5af2-ae80-4f39-ac6f-c2dbc2e8b820	906935a6-9e29-4146-a7a0-d60f2507e774	g.chr7:151904428_151904429insA	ENST00000262189.6	-	24	4015_4016	c.3797_3798insT	c.(3796-3798)ggafs	p.G1266fs	KMT2C_ENST00000355193.2_Frame_Shift_Ins_p.G1266fs	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	1266					histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										CACCATCTGTTCCTTCCACTCC	0.381																																						ENST00000355193.2																			0											c.(3796-3798)gacfs		lysine (K)-specific methyltransferase 2C																																				SO:0001589	frameshift_variant	58508							g.chr7:151904428_151904429insA	AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	13726	protein-coding gene	gene with protein product		606833	"myeloid/lymphoid or mixed-lineage leukemia 3"	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.3797_3798insT	7.37:g.151904428_151904429insA	ENSP00000262189:p.Gly1266fs					KMT2C_ENST00000262189.6_Frame_Shift_Ins_p.D1266fs	p.D1266fs							24	4015_4016	-								Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Frame_Shift_Ins	INS	ENST00000262189.6	37	c.3797_3798insT	CCDS5931.1																																																																																				0.381	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3			43	102						43	102	---	---	---	---	A	151904429	-	A	151904428	7	5	172	1	0	1	1	0	0	0	0	0	9622	1770	62	0	11081	0	MLL3	7	151904428	Frame_Shift_Ins	INS	-	TCGA-G9-6373-01A-11D-1786-08	54084297	151904428	7234235	19	8169											
HOOK3	84376	broad.mit.edu	37	chr8	42852766	42852766	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatctttacaggatcaaggcTcaaaagcagaagatgtaagt	17	9	9	6	0	3	2	2	0	1	2	3	3	3	3	0	2	2	3	0	2	7	3			TCGA-G9-6373-01A-11D-1786-08	TCGA-G9-6373-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0caf5af2-ae80-4f39-ac6f-c2dbc2e8b820	906935a6-9e29-4146-a7a0-d60f2507e774	g.chr8:42852766T>C	ENST00000307602.4	+	16	1806	c.1606T>C	c.(1606-1608)Tca>Cca	p.S536P		NM_032410.3	NP_115786.1	Q86VS8	HOOK3_HUMAN	hook microtubule-tethering protein 3	536					cytoplasmic microtubule organization (GO:0031122)|early endosome to late endosome transport (GO:0045022)|endosome organization (GO:0007032)|endosome to lysosome transport (GO:0008333)|Golgi localization (GO:0051645)|interkinetic nuclear migration (GO:0022027)|lysosome organization (GO:0007040)|microtubule anchoring at centrosome (GO:0034454)|negative regulation of neurogenesis (GO:0050768)|neuronal stem cell maintenance (GO:0097150)|protein localization to centrosome (GO:0071539)|protein transport (GO:0015031)	centriolar satellite (GO:0034451)|centrosome (GO:0005813)|cis-Golgi network (GO:0005801)|cytoplasm (GO:0005737)|FHF complex (GO:0070695)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|microtubule organizing center (GO:0005815)|pericentriolar material (GO:0000242)	identical protein binding (GO:0042802)|microtubule binding (GO:0008017)	p.S536P(1)		NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	31	Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.000105)|Lung NSC(58;0.000419)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	Lung(22;0.048)|LUSC - Lung squamous cell carcinoma(45;0.114)			GGATCAAGGCTCAAAAGCAGA	0.308			T	RET	papillary thyroid																																	ENST00000307602.4				Dom	yes		8	8p11.21	84376	T	hook homolog 3			E	RET		papillary thyroid		1	Substitution - Missense(1)	p.S536P(1)	prostate(1)	NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	31						c.(1606-1608)Tca>Cca		hook microtubule-tethering protein 3							75	77	76					8																	42852766		2203	4299	6502	SO:0001583	missense	84376				cytoplasmic microtubule organization|early endosome to late endosome transport|endosome organization|endosome to lysosome transport|Golgi localization|interkinetic nuclear migration|lysosome organization|microtubule anchoring|negative regulation of neurogenesis|protein localization to centrosome|protein transport	cis-Golgi network|FHF complex|microtubule|pericentriolar material	identical protein binding|microtubule binding	g.chr8:42852766T>C	AK090540	CCDS6139.1	8p11.21	2013-08-21	2013-08-21		ENSG00000168172	ENSG00000168172			23576	protein-coding gene	gene with protein product		607825	"hook homolog 3 (Drosophila)"			9927460	Standard	NM_032410		Approved	HK3	uc003xpr.3	Q86VS8	OTTHUMG00000165278	ENST00000307602.4:c.1606T>C	8.37:g.42852766T>C	ENSP00000305699:p.Ser536Pro						p.S536P	NM_032410.3	NP_115786.1	Q86VS8	HOOK3_HUMAN	Lung(22;0.048)|LUSC - Lung squamous cell carcinoma(45;0.114)		16	1806	+	Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.000105)|Lung NSC(58;0.000419)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	536					D3DSY8|Q8NBH0|Q9BY13	Missense_Mutation	SNP	ENST00000307602.4	37	c.1606T>C	CCDS6139.1	.	.	.	.	.	.	.	.	.	.	T	17.28	3.349745	0.61183	.	.	ENSG00000168172	ENST00000307602;ENST00000533539	T;T	0.19806	2.12;2.12	5.29	5.29	0.74685	.	0.202193	0.45361	D	0.000370	T	0.25195	0.0612	M	0.73217	2.22	0.53688	D	0.999974	B	0.12013	0.005	B	0.18871	0.023	T	0.03717	-1.1010	10	0.40728	T	0.16	-13.4155	11.2285	0.48899	0.0:0.0:0.1532:0.8468	.	536	Q86VS8	HOOK3_HUMAN	P	536;12	ENSP00000305699:S536P;ENSP00000433953:S12P	ENSP00000305699:S536P	S	+	1	0	HOOK3	42971923	1.000000	0.71417	0.995000	0.50966	0.980000	0.70556	4.108000	0.57817	2.134000	0.65973	0.533000	0.62120	TCA		0.308	HOOK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383172.2	NM_032410		15	59	0	0	0	1	0	15	59					C	42852766	T	C	42852766	3	2	172	1	0	0	0	0	1	0	0	0	7284	1551	54	4	1668	4	HOOK3	8	42852766	Missense_Mutation	SNP	T	TCGA-G9-6373-01A-11D-1786-08		42852766	103511256	20	8170											
SLC10A5	347051	broad.mit.edu	37	chr8	82606545	82606546	+	Frame_Shift_Ins	INS	-	-	C																															gaagcagagcaaagagatagINScccccaccccctcctgggca																										TCGA-G9-6373-01A-11D-1786-08	TCGA-G9-6373-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0caf5af2-ae80-4f39-ac6f-c2dbc2e8b820	906935a6-9e29-4146-a7a0-d60f2507e774	g.chr8:82606545_82606546insC	ENST00000518568.1	-	1	1863_1864	c.662_663insG	c.(661-663)ggcfs	p.G221fs		NM_001010893.2	NP_001010893.1	Q5PT55	NTCP5_HUMAN	solute carrier family 10, member 5	221						integral component of membrane (GO:0016021)	bile acid:sodium symporter activity (GO:0008508)			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)	15						CAAAGAGATAGCCCCCACCCCC	0.47																																						ENST00000518568.1																			0				autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)	15						c.(661-663)gtafs		solute carrier family 10, member 5																																				SO:0001589	frameshift_variant	347051					integral to membrane	bile acid:sodium symporter activity	g.chr8:82606545_82606546insC		CCDS34915.1	8q21.13	2013-07-18	2013-07-18		ENSG00000253598	ENSG00000253598		"Solute carriers"	22981	protein-coding gene	gene with protein product							Standard	NM_001010893		Approved		uc011lfs.2	Q5PT55	OTTHUMG00000164683	ENST00000518568.1:c.663dupG	8.37:g.82606550_82606550dupC	ENSP00000428612:p.Gly221fs						p.V221fs	NM_001010893.2	NP_001010893.1	Q5PT55	NTCP5_HUMAN			1	1863_1864	-			221					B2RN26	Frame_Shift_Ins	INS	ENST00000518568.1	37	c.662_663insG	CCDS34915.1																																																																																				0.47	SLC10A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379736.1	XM_294493		7	522						7	522	---	---	---	---	C	82606546	-	C	82606545	7	5	172	1	0	1	1	0	0	0	0	0	14377	958	34	0	655	0	SLC10A5	8	82606545	Frame_Shift_Ins	INS	-	TCGA-G9-6373-01A-11D-1786-08	39753779	82606545	63757477	21	8171											
COL22A1	169044	broad.mit.edu	37	chr8	139662012	139662012	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggggccaggagggcagtcatTgcacacatcctgagagtggg	9	6	17	9	0	1	1	1	1	0	1	2	3	2	2	2	5	1	2	2	5	0	1			TCGA-G9-6373-01A-11D-1786-08	TCGA-G9-6373-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0caf5af2-ae80-4f39-ac6f-c2dbc2e8b820	906935a6-9e29-4146-a7a0-d60f2507e774	g.chr8:139662012T>C	ENST00000303045.6	-	46	3789	c.3343A>G	c.(3343-3345)Aat>Gat	p.N1115D	COL22A1_ENST00000435777.1_Missense_Mutation_p.N1095D|COL22A1_ENST00000341807.4_5'UTR	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	1115	Gly-rich.|Pro-rich.				extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)		p.N1115D(1)		breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			GGGCAGTCATTGCACACATCC	0.532										HNSCC(7;0.00092)																												ENST00000303045.6																			1	Substitution - Missense(1)	p.N1115D(1)	prostate(1)	breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211						c.(3343-3345)Aat>Gat		collagen, type XXII, alpha 1							53	50	51					8																	139662012		2203	4300	6503	SO:0001583	missense	169044				cell adhesion	collagen|cytoplasm	structural molecule activity	g.chr8:139662012T>C	AF406780	CCDS6376.1	8q24.3	2013-01-16			ENSG00000169436	ENSG00000169436		"Collagens"	22989	protein-coding gene	gene with protein product		610026					Standard	NM_152888		Approved		uc003yvd.3	Q8NFW1	OTTHUMG00000150035	ENST00000303045.6:c.3343A>G	8.37:g.139662012T>C	ENSP00000303153:p.Asn1115Asp	HNSCC(7;0.00092)				COL22A1_ENST00000435777.1_Missense_Mutation_p.N1095D|COL22A1_ENST00000341807.4_5'UTR	p.N1115D	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0517)		46	3789	-	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		1115			Gly-rich.|Pro-rich.		B7ZMH0|C9K0G4|Q8IVT9	Missense_Mutation	SNP	ENST00000303045.6	37	c.3343A>G	CCDS6376.1	.	.	.	.	.	.	.	.	.	.	T	7.978	0.750647	0.15778	.	.	ENSG00000169436	ENST00000303045;ENST00000435777;ENST00000545577	D;D	0.96300	-3.97;-3.97	4.95	2.5	0.30297	.	0.455288	0.18179	U	0.149191	D	0.89181	0.6642	N	0.20483	0.58	0.23010	N	0.998437	B;B	0.19817	0.027;0.039	B;B	0.19391	0.025;0.011	T	0.76482	-0.2943	10	0.11182	T	0.66	.	5.5468	0.17069	0.0:0.094:0.1762:0.7298	.	1095;1115	Q8NFW1-2;Q8NFW1	.;COMA1_HUMAN	D	1115;1095;808	ENSP00000303153:N1115D;ENSP00000387655:N1095D	ENSP00000303153:N1115D	N	-	1	0	COL22A1	139731194	0.943000	0.32029	0.898000	0.35279	0.702000	0.40608	1.417000	0.34770	0.685000	0.31468	0.379000	0.24179	AAT		0.532	COL22A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000315905.2	XM_291257		27	31	0	0	0	1	0	27	31					C	139662012	T	C	139662012	3	2	172	1	0	0	0	0	1	0	0	0	3681	1812	63	4	1617	4	COL22A1	8	139662012	Missense_Mutation	SNP	T	TCGA-G9-6373-01A-11D-1786-08	57055467	139662012	6702010	22	8172											
APBA1	320	broad.mit.edu	37	chr9	72131722	72131722	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgcgtggcctcggcgtgctcGgcctctgcctgctccgtgta	1	11	14	15	5	1	0	0	0	1	0	4	0	2	0	4	3	4	3	4	3	1	1			TCGA-G9-6373-01A-11D-1786-08	TCGA-G9-6373-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0caf5af2-ae80-4f39-ac6f-c2dbc2e8b820	906935a6-9e29-4146-a7a0-d60f2507e774	g.chr9:72131722G>A	ENST00000265381.4	-	2	627	c.405C>T	c.(403-405)gcC>gcT	p.A135A		NM_001163.3	NP_001154.2	Q02410	APBA1_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 1	135					axon cargo transport (GO:0008088)|cell adhesion (GO:0007155)|gamma-aminobutyric acid secretion (GO:0014051)|glutamate secretion (GO:0014047)|in utero embryonic development (GO:0001701)|intracellular protein transport (GO:0006886)|locomotory behavior (GO:0007626)|multicellular organism growth (GO:0035264)|nervous system development (GO:0007399)|protein complex assembly (GO:0006461)|regulation of gene expression (GO:0010468)|synaptic transmission (GO:0007268)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|synaptic vesicle (GO:0008021)	beta-amyloid binding (GO:0001540)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)	p.A135A(1)		endometrium(4)|kidney(2)|large_intestine(12)|lung(13)|prostate(3)|skin(3)	37						CGGCGTGCTCGGCCTCTGCCT	0.692																																						ENST00000265381.4																			1	Substitution - coding silent(1)	p.A135A(1)	prostate(1)	endometrium(4)|kidney(2)|large_intestine(12)|lung(13)|prostate(3)|skin(3)	37						c.(403-405)gcC>gcT		amyloid beta (A4) precursor protein-binding, family A, member 1							37	33	34					9																	72131722		2201	4297	6498	SO:0001819	synonymous_variant	320				axon cargo transport|cell adhesion|intracellular protein transport|nervous system development|protein complex assembly|synaptic transmission	synaptic vesicle		g.chr9:72131722G>A	AF029106	CCDS6630.1	9q13-q21	2008-07-18	2008-07-18		ENSG00000107282	ENSG00000107282			578	protein-coding gene	gene with protein product		602414		MINT1		7678331, 7719031	Standard	NM_001163		Approved	D9S411E, X11	uc004ahh.2	Q02410	OTTHUMG00000019984	ENST00000265381.4:c.405C>T	9.37:g.72131722G>A							p.A135A	NM_001163.3	NP_001154.2	Q02410	APBA1_HUMAN			2	627	-			135					O14914|O60570|Q5VYR8	Silent	SNP	ENST00000265381.4	37	c.405C>T	CCDS6630.1																																																																																				0.692	APBA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052589.2	NM_001163		24	54	0	0	0	1	0	24	54					A	72131722	G	A	72131722	2	1	172	1	0	0	0	0	0	0	0	1	756	1103	39	2		2	APBA1	9	72131722	Silent	SNP	G	TCGA-G9-6373-01A-11D-1786-08		72131722	69081709	23	8173											
DCLRE1A	9937	broad.mit.edu	37	chr10	115612543	115612543	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgccatcgaggtgtctgcccTatcaatgaggaaaaaggcat	12	9	11	9	1	2	1	1	1	1	0	3	3	2	2	2	3	2	1	2	3	4	1			TCGA-G9-6373-01A-11D-1786-08	TCGA-G9-6373-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0caf5af2-ae80-4f39-ac6f-c2dbc2e8b820	906935a6-9e29-4146-a7a0-d60f2507e774	g.chr10:115612543T>C	ENST00000361384.2	-	1	1316	c.399A>G	c.(397-399)atA>atG	p.I133M	DCLRE1A_ENST00000476112.1_5'Flank|NHLRC2_ENST00000369301.3_5'Flank|DCLRE1A_ENST00000369305.1_Missense_Mutation_p.I133M	NM_014881.3	NP_055696.3	Q6PJP8	DCR1A_HUMAN	DNA cross-link repair 1A	133	Nuclear localization region.				mitotic nuclear division (GO:0007067)|nucleotide-excision repair (GO:0006289)	nucleus (GO:0005634)				breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|skin(2)|urinary_tract(1)	31				Epithelial(162;0.0157)|all cancers(201;0.0171)		GTGTCTGCCCTATCAATGAGG	0.413								Other identified genes with known or suspected DNA repair function																														ENST00000361384.2																			0				breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|skin(2)|urinary_tract(1)	31						c.(397-399)atA>atG	Other identified genes with known or suspected DNA repair function	DNA cross-link repair 1A							156	134	141					10																	115612543		2203	4300	6503	SO:0001583	missense	9937				cell division|mitosis	nucleus	hydrolase activity	g.chr10:115612543T>C		CCDS7584.1	10q25.1	2010-06-24	2010-06-24		ENSG00000198924	ENSG00000198924			17660	protein-coding gene	gene with protein product	"PSO2 homolog (S. cerevisiae)"	609682	"DNA cross-link repair 1A (PSO2 homolog, S. cerevisiae)"			9806498, 17804464	Standard	NM_014881		Approved	SNM1, PSO2, KIAA0086, hSNM1	uc031pxf.1	Q6PJP8	OTTHUMG00000019077	ENST00000361384.2:c.399A>G	10.37:g.115612543T>C	ENSP00000355185:p.Ile133Met					DCLRE1A_ENST00000369305.1_Missense_Mutation_p.I133M	p.I133M	NM_014881.3	NP_055696.3	Q6PJP8	DCR1A_HUMAN		Epithelial(162;0.0157)|all cancers(201;0.0171)	1	1316	-			133			Nuclear localization region.		D3DRC1|Q14701|Q6P5Y3|Q6PKL4	Missense_Mutation	SNP	ENST00000361384.2	37	c.399A>G	CCDS7584.1	.	.	.	.	.	.	.	.	.	.	T	15.58	2.876105	0.51801	.	.	ENSG00000198924	ENST00000361384;ENST00000369305	D;D	0.94376	-3.41;-3.41	5.5	-2.06	0.07298	.	0.301359	0.27298	N	0.020015	T	0.81616	0.4860	N	0.22421	0.69	0.25277	N	0.98947	P	0.41265	0.744	B	0.30943	0.122	T	0.75935	-0.3142	10	0.72032	D	0.01	-5.9465	5.4679	0.16654	0.1398:0.4269:0.0:0.4332	.	133	Q6PJP8	DCR1A_HUMAN	M	133	ENSP00000355185:I133M;ENSP00000358311:I133M	ENSP00000355185:I133M	I	-	3	3	DCLRE1A	115602533	0.145000	0.22656	0.991000	0.47740	0.959000	0.62525	-0.573000	0.05874	-0.231000	0.09825	0.528000	0.53228	ATA		0.413	DCLRE1A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050444.1	NM_014881		12	128	0	0	0	1	0	12	128					C	115612543	T	C	115612543	3	2	172	1	0	0	0	0	1	0	0	0	4294	1512	53	4	2759	4	DCLRE1A	10	115612543	Missense_Mutation	SNP	T	TCGA-G9-6373-01A-11D-1786-08		115612543	19922204	24	8174											
GUCY1A2	2977	broad.mit.edu	37	chr11	106558447	106558447	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaagctcttcacgagaccgcGgaatgaatgtgaaactttct	12	10	10	9	3	3	3	1	2	2	1	3	6	3	4	1	1	2	1	1	1	4	2			TCGA-G9-6373-01A-11D-1786-08	TCGA-G9-6373-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0caf5af2-ae80-4f39-ac6f-c2dbc2e8b820	906935a6-9e29-4146-a7a0-d60f2507e774	g.chr11:106558447G>A	ENST00000526355.2	-	8	2495	c.2027C>T	c.(2026-2028)cCg>cTg	p.P676L	GUCY1A2_ENST00000347596.2_Missense_Mutation_p.P697L|GUCY1A2_ENST00000282249.2_Missense_Mutation_p.P707L	NM_000855.2	NP_000846.1	P33402	GCYA2_HUMAN	guanylate cyclase 1, soluble, alpha 2	676					blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|positive regulation of cGMP biosynthetic process (GO:0030828)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|heme binding (GO:0020037)	p.P676L(2)		breast(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(18)|liver(1)|lung(32)|ovary(1)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	74		all_epithelial(67;3.66e-05)|Melanoma(852;0.000382)|Acute lymphoblastic leukemia(157;0.001)|all_hematologic(158;0.0017)|Breast(348;0.026)|all_neural(303;0.068)		BRCA - Breast invasive adenocarcinoma(274;8.04e-05)|Epithelial(105;0.0036)|all cancers(92;0.0476)	Isosorbide Mononitrate(DB01020)|Nitric Oxide(DB00435)	ACGAGACCGCGGAATGAATGT	0.418																																						ENST00000526355.1																			2	Substitution - Missense(2)	p.P676L(2)	prostate(2)	breast(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(18)|liver(1)|lung(32)|ovary(1)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	74						c.(2026-2028)cCg>cTg		guanylate cyclase 1, soluble, alpha 2							95	98	97					11																	106558447		2201	4298	6499	SO:0001583	missense	2977				intracellular signal transduction|platelet activation	cytoplasm	GTP binding|guanylate cyclase activity|heme binding	g.chr11:106558447G>A	X63282	CCDS8335.1, CCDS58170.1	11q21-q22	2008-03-18			ENSG00000152402	ENSG00000152402	4.6.1.2		4684	protein-coding gene	gene with protein product		601244		GUC1A2		1683630	Standard	NM_000855		Approved	GC-SA2	uc001pjg.2	P33402	OTTHUMG00000166296	ENST00000526355.2:c.2027C>T	11.37:g.106558447G>A	ENSP00000431245:p.Pro676Leu					GUCY1A2_ENST00000282249.2_Missense_Mutation_p.P707L|GUCY1A2_ENST00000347596.2_Missense_Mutation_p.P697L	p.P676L	NM_000855.2	NP_000846.1	P33402	GCYA2_HUMAN		BRCA - Breast invasive adenocarcinoma(274;8.04e-05)|Epithelial(105;0.0036)|all cancers(92;0.0476)	8	2495	-		all_epithelial(67;3.66e-05)|Melanoma(852;0.000382)|Acute lymphoblastic leukemia(157;0.001)|all_hematologic(158;0.0017)|Breast(348;0.026)|all_neural(303;0.068)	676					A1L4C4|B7ZLT5	Missense_Mutation	SNP	ENST00000526355.2	37	c.2027C>T	CCDS8335.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.375737	0.82682	.	.	ENSG00000152402	ENST00000526355;ENST00000282249;ENST00000347596	T;T;T	0.80566	-1.39;-1.39;-1.39	5.52	5.52	0.82312	Adenylyl cyclase class-3/4/guanylyl cyclase (4);	0.000000	0.44902	U	0.000403	D	0.87807	0.6270	L	0.60845	1.875	0.80722	D	1	D;P;D	0.89917	1.0;0.867;1.0	D;B;D	0.97110	1.0;0.329;1.0	D	0.84572	0.0656	10	0.27785	T	0.31	.	18.7903	0.91971	0.0:0.0:1.0:0.0	.	697;707;676	B7ZLT5;P33402-2;P33402	.;.;GCYA2_HUMAN	L	676;707;697	ENSP00000431245:P676L;ENSP00000282249:P707L;ENSP00000344874:P697L	ENSP00000282249:P707L	P	-	2	0	GUCY1A2	106063657	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	9.340000	0.97038	2.762000	0.94881	0.467000	0.42956	CCG		0.418	GUCY1A2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389003.2			63	134	0	0	0	1	0	63	134					A	106558447	G	A	106558447	3	1	172	1	0	0	0	0	1	0	0	0	6893	1116	39	2	175	2	GUCY1A2	11	106558447	Missense_Mutation	SNP	G	TCGA-G9-6373-01A-11D-1786-08		106558447	28448069	25	8175											
PRMT8	56341	broad.mit.edu	37	chr12	3649787	3649787	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcaggtgaacagcccccccTcccagcccccccagcccgtc	6	4	7	24	1	1	1	1	1	0	0	3	1	2	1	8	1	4	0	8	1	1	0			TCGA-G9-6373-01A-11D-1786-08	TCGA-G9-6373-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0caf5af2-ae80-4f39-ac6f-c2dbc2e8b820	c817606e-6c86-4fec-a7c7-e514459e4aba	g.chr12:3649787T>C	ENST00000382622.3	+	2	481	c.91T>C	c.(91-93)Tcc>Ccc	p.S31P	PRMT8_ENST00000261252.4_3'UTR|PRMT8_ENST00000452611.2_Missense_Mutation_p.S22P	NM_019854.4	NP_062828.3	Q9NR22	ANM8_HUMAN	protein arginine methyltransferase 8	31					histone arginine methylation (GO:0034969)|histone H4-R3 methylation (GO:0043985)|histone methylation (GO:0016571)|peptidyl-arginine methylation (GO:0018216)|peptidyl-arginine methylation, to asymmetrical-dimethyl arginine (GO:0019919)|regulation of protein binding (GO:0043393)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	histone methyltransferase activity (H4-R3 specific) (GO:0044020)|histone-arginine N-methyltransferase activity (GO:0008469)|identical protein binding (GO:0042802)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein-arginine omega-N asymmetric methyltransferase activity (GO:0035242)|protein-arginine omega-N monomethyltransferase activity (GO:0035241)|S-adenosylmethionine-dependent methyltransferase activity (GO:0008757)			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)	37			OV - Ovarian serous cystadenocarcinoma(31;0.0109)|COAD - Colon adenocarcinoma(12;0.0264)			CAGCCCCCCCTCCCAGCCCCC	0.652																																						ENST00000382622.3																			0				breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)	37						c.(91-93)Tcc>Ccc		protein arginine methyltransferase 8							41	51	47					12																	3649787		2199	4299	6498	SO:0001583	missense	56341				regulation of protein binding	cytoplasm|plasma membrane	histone-arginine N-methyltransferase activity|protein heterodimerization activity|protein homodimerization activity|protein-arginine omega-N asymmetric methyltransferase activity|protein-arginine omega-N monomethyltransferase activity	g.chr12:3649787T>C	AF263539	CCDS8521.2, CCDS58200.1	12p13.3	2006-03-03	2006-02-16	2006-02-16	ENSG00000111218	ENSG00000111218		"Protein arginine methyltransferases"	5188	protein-coding gene	gene with protein product		610086	"HMT1 hnRNP methyltransferase-like 3 (S. cerevisiae)", "HMT1 hnRNP methyltransferase-like 4 (S. cerevisiae)"	HRMT1L3, HRMT1L4		16051612	Standard	NM_019854		Approved		uc001qmf.4	Q9NR22	OTTHUMG00000128493	ENST00000382622.3:c.91T>C	12.37:g.3649787T>C	ENSP00000372067:p.Ser31Pro					PRMT8_ENST00000261252.4_3'UTR|PRMT8_ENST00000452611.2_Missense_Mutation_p.S22P	p.S31P	NM_019854.4	NP_062828.3	Q9NR22	ANM8_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.0109)|COAD - Colon adenocarcinoma(12;0.0264)		2	481	+			31					B2RDP0|Q8TBJ8	Missense_Mutation	SNP	ENST00000382622.3	37	c.91T>C	CCDS8521.2	.	.	.	.	.	.	.	.	.	.	T	15.44	2.834665	0.50951	.	.	ENSG00000111218	ENST00000452611;ENST00000382622	T;T	0.30182	1.65;1.54	5.52	-6.61	0.01818	.	0.606566	0.17318	N	0.178612	T	0.16171	0.0389	L	0.43152	1.355	0.28544	N	0.911948	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.09997	-1.0649	10	0.29301	T	0.29	.	3.8844	0.09091	0.1085:0.1587:0.4822:0.2506	.	22;31	Q9NR22-2;Q9NR22	.;ANM8_HUMAN	P	22;31	ENSP00000414507:S22P;ENSP00000372067:S31P	ENSP00000372067:S31P	S	+	1	0	PRMT8	3520048	0.000000	0.05858	0.001000	0.08648	0.946000	0.59487	-0.825000	0.04433	-0.996000	0.03455	0.460000	0.39030	TCC		0.652	PRMT8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250297.2	NM_019854		14	107	0	0	0	1	0	14	107					C	3649787	T	C	3649787	3	2	172	1	0	0	0	0	1	0	0	0	12542	1551	54	4	97	4	PRMT8	12	3649787	Missense_Mutation	SNP	T	TCGA-G9-6373-01A-11D-1786-08		3649787	130202108	26	8176											
KIAA1467	57613	broad.mit.edu	37	chr12	13208628	13208628	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgggagaagcgccagaacccGactcagatgctgaggttgca	11	6	14	10	2	1	4	1	1	0	3	1	6	1	4	2	2	4	3	2	2	2	1			TCGA-G9-6373-01A-11D-1786-08	TCGA-G9-6373-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0caf5af2-ae80-4f39-ac6f-c2dbc2e8b820	906935a6-9e29-4146-a7a0-d60f2507e774	g.chr12:13208628G>A	ENST00000197268.8	+	2	301	c.181G>A	c.(181-183)Gac>Aac	p.D61N		NM_020853.1	NP_065904.1	A2RU67	K1467_HUMAN	KIAA1467	61						integral component of membrane (GO:0016021)		p.D61N(1)		NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|prostate(1)|skin(4)	36		Prostate(47;0.184)		BRCA - Breast invasive adenocarcinoma(232;0.157)		GCCAGAACCCGACTCAGATGC	0.557																																						ENST00000197268.8																			1	Substitution - Missense(1)	p.D61N(1)	prostate(1)	NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|prostate(1)|skin(4)	36						c.(181-183)Gac>Aac		KIAA1467							65	63	64					12																	13208628		2203	4300	6503	SO:0001583	missense	57613					integral to membrane		g.chr12:13208628G>A	AB040900	CCDS31750.1	12p13.1	2006-01-23				ENSG00000084444			29288	protein-coding gene	gene with protein product						10819331	Standard	XM_005253450		Approved		uc001rbi.3	A2RU67		ENST00000197268.8:c.181G>A	12.37:g.13208628G>A	ENSP00000197268:p.Asp61Asn						p.D61N	NM_020853.1	NP_065904.1	A2RU67	K1467_HUMAN		BRCA - Breast invasive adenocarcinoma(232;0.157)	2	301	+		Prostate(47;0.184)	61					Q49AF2|Q5CZ81|Q6ZUV7|Q9P261	Missense_Mutation	SNP	ENST00000197268.8	37	c.181G>A	CCDS31750.1	.	.	.	.	.	.	.	.	.	.	G	16.84	3.234312	0.58886	.	.	ENSG00000084444	ENST00000197268	T	0.25579	1.79	5.35	5.35	0.76521	.	0.160733	0.53938	D	0.000041	T	0.41073	0.1143	M	0.62723	1.935	0.39430	D	0.967069	D	0.69078	0.997	P	0.56751	0.805	T	0.31364	-0.9946	10	0.52906	T	0.07	-11.622	12.4301	0.55569	0.0766:0.0:0.9234:0.0	.	61	A2RU67	K1467_HUMAN	N	61	ENSP00000197268:D61N	ENSP00000197268:D61N	D	+	1	0	KIAA1467	13099895	1.000000	0.71417	0.947000	0.38551	0.132000	0.20833	4.306000	0.59117	2.499000	0.84300	0.603000	0.83216	GAC		0.557	KIAA1467-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401007.1	NM_020853		47	86	0	0	0	1	0	47	86					A	13208628	G	A	13208628	3	1	172	1	0	0	0	0	1	0	0	0	8235	1058	37	2	187	2	KIAA1467	12	13208628	Missense_Mutation	SNP	G	TCGA-G9-6373-01A-11D-1786-08	9558841	13208628	120643267	27	8177											
SSH1	54434	broad.mit.edu	37	chr12	109192926	109192926	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aggctatgactgtggaggccGagcgactcacgcccattttg	8	9	13	11	3	1	1	1	1	0	0	1	4	1	2	2	3	1	1	2	3	1	3			TCGA-G9-6373-01A-11D-1786-08	TCGA-G9-6373-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0caf5af2-ae80-4f39-ac6f-c2dbc2e8b820	906935a6-9e29-4146-a7a0-d60f2507e774	g.chr12:109192926G>A	ENST00000326495.5	-	13	1292	c.1199C>T	c.(1198-1200)tCg>tTg	p.S400L	SSH1_ENST00000360239.3_Missense_Mutation_p.S88L|SSH1_ENST00000326470.5_Missense_Mutation_p.S411L|SSH1_ENST00000551165.1_Missense_Mutation_p.S400L	NM_018984.3	NP_061857.3	Q8WYL5	SSH1_HUMAN	slingshot protein phosphatase 1	400	Tyrosine-protein phosphatase.				actin cytoskeleton organization (GO:0030036)|cell morphogenesis (GO:0000902)|cellular response to ATP (GO:0071318)|protein dephosphorylation (GO:0006470)|regulation of actin polymerization or depolymerization (GO:0008064)|regulation of axonogenesis (GO:0050770)|regulation of cellular protein metabolic process (GO:0032268)|regulation of lamellipodium assembly (GO:0010591)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|DNA binding (GO:0003677)|phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(8)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						TGTGGAGGCCGAGCGACTCAC	0.557																																						ENST00000326495.5																			0				breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(8)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						c.(1198-1200)tCg>tTg		slingshot protein phosphatase 1							57	53	54					12																	109192926		2203	4300	6503	SO:0001583	missense	54434				actin cytoskeleton organization|cell morphogenesis|cellular response to ATP|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of cellular protein metabolic process|regulation of lamellipodium assembly	cleavage furrow|cytoplasm|cytoskeleton|lamellipodium|midbody|plasma membrane	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr12:109192926G>A	BC062341	CCDS9121.1, CCDS53825.1, CCDS55882.1	12q24.12	2013-03-05	2013-03-05			ENSG00000084112		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Slingshots"	30579	protein-coding gene	gene with protein product		606778	"slingshot homolog 1 (Drosophila)"			10718198, 11832213	Standard	NM_018984		Approved	KIAA1298	uc001tnm.3	Q8WYL5	OTTHUMG00000169371	ENST00000326495.5:c.1199C>T	12.37:g.109192926G>A	ENSP00000315713:p.Ser400Leu					SSH1_ENST00000326470.5_Missense_Mutation_p.S411L|SSH1_ENST00000551165.1_Missense_Mutation_p.S400L|SSH1_ENST00000360239.3_Missense_Mutation_p.S88L	p.S400L	NM_018984.3	NP_061857.3	Q8WYL5	SSH1_HUMAN			13	1292	-			400			Tyrosine-protein phosphatase.		Q6P6C0|Q8N9A7|Q8WYL3|Q8WYL4|Q9P2P8	Missense_Mutation	SNP	ENST00000326495.5	37	c.1199C>T	CCDS9121.1	.	.	.	.	.	.	.	.	.	.	G	18.99	3.739850	0.69304	.	.	ENSG00000084112	ENST00000360239;ENST00000326495;ENST00000551165;ENST00000326470	T;T;T;T	0.72942	0.84;-0.7;-0.7;-0.7	5.27	5.27	0.74061	Dual specificity phosphatase, catalytic domain (1);Protein-tyrosine/Dual-specificity phosphatase (1);Dual specificity phosphatase, subgroup, catalytic domain (2);	0.000000	0.85682	D	0.000000	D	0.92341	0.7570	H	0.99838	4.83	0.58432	D	0.999999	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;0.995;1.0;0.999	D	0.95836	0.8862	10	0.87932	D	0	-19.0027	19.2929	0.94110	0.0:0.0:1.0:0.0	.	411;400;400;88	Q8WYL5-5;Q8WYL5-2;Q8WYL5;Q8WYL5-4	.;.;SSH1_HUMAN;.	L	88;400;400;411	ENSP00000353374:S88L;ENSP00000315713:S400L;ENSP00000448824:S400L;ENSP00000326107:S411L	ENSP00000326107:S411L	S	-	2	0	SSH1	107717055	1.000000	0.71417	0.068000	0.19968	0.095000	0.18619	9.869000	0.99810	2.636000	0.89361	0.655000	0.94253	TCG		0.557	SSH1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000403724.1	NM_018984		6	37	0	0	0	1	0	6	37					A	109192926	G	A	109192926	3	1	172	1	0	0	0	0	1	0	0	0	15183	1059	37	2	2148	2	SSH1	12	109192926	Missense_Mutation	SNP	G	TCGA-G9-6373-01A-11D-1786-08	95984298	109192926	24658969	28	8178											
MED13L	23389	broad.mit.edu	37	chr12	116446812	116446812	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctttttcctgtctttctgctGttttgtgcttagaagaagca	6	19	8	8	0	2	2	0	0	2	2	3	2	3	2	1	0	3	4	1	0	3	6			TCGA-G9-6373-01A-11D-1786-08	TCGA-G9-6373-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0caf5af2-ae80-4f39-ac6f-c2dbc2e8b820	906935a6-9e29-4146-a7a0-d60f2507e774	g.chr12:116446812G>A	ENST00000281928.3	-	10	1612	c.1406C>T	c.(1405-1407)aCa>aTa	p.T469I		NM_015335.4	NP_056150.1	Q71F56	MD13L_HUMAN	mediator complex subunit 13-like	469						mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)	p.T469I(1)		NS(2)|breast(1)|endometrium(9)|kidney(3)|large_intestine(18)|lung(34)|ovary(4)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	85	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0407)		TCTTTCTGCTGTTTTGTGCTT	0.478																																						ENST00000281928.3																			1	Substitution - Missense(1)	p.T469I(1)	prostate(1)	NS(2)|breast(1)|endometrium(9)|kidney(3)|large_intestine(18)|lung(34)|ovary(4)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	85						c.(1405-1407)aCa>aTa		mediator complex subunit 13-like							262	254	257					12																	116446812		2203	4300	6503	SO:0001583	missense	23389				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent			g.chr12:116446812G>A	AB028948	CCDS9177.1	12q24.22	2010-07-29	2007-07-30	2007-07-30	ENSG00000123066	ENSG00000123066			22962	protein-coding gene	gene with protein product		608771	"thyroid hormone receptor associated protein 2"	THRAP2			Standard	NM_015335		Approved	KIAA1025, TRAP240L	uc001tvw.3	Q71F56	OTTHUMG00000169404	ENST00000281928.3:c.1406C>T	12.37:g.116446812G>A	ENSP00000281928:p.Thr469Ile						p.T469I	NM_015335.4	NP_056150.1	Q71F56	MD13L_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.0407)	10	1612	-	all_neural(191;0.117)|Medulloblastoma(191;0.163)		469					A1L469|Q68DN4|Q9H8C0|Q9NSY9|Q9UFD8|Q9UPX5	Missense_Mutation	SNP	ENST00000281928.3	37	c.1406C>T	CCDS9177.1	.	.	.	.	.	.	.	.	.	.	G	15.53	2.861423	0.51482	.	.	ENSG00000123066	ENST00000281928	T	0.74947	-0.89	5.76	5.76	0.90799	.	0.150133	0.64402	D	0.000013	T	0.69223	0.3087	L	0.52573	1.65	0.39788	D	0.972392	B	0.02656	0.0	B	0.06405	0.002	T	0.65261	-0.6211	10	0.41790	T	0.15	.	14.1668	0.65483	0.0713:0.0:0.9286:0.0	.	469	Q71F56	MD13L_HUMAN	I	469	ENSP00000281928:T469I	ENSP00000281928:T469I	T	-	2	0	MED13L	114931195	1.000000	0.71417	0.997000	0.53966	0.978000	0.69477	4.335000	0.59298	2.732000	0.93576	0.655000	0.94253	ACA		0.478	MED13L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403879.3			101	145	0	0	0	1	0	101	145					A	116446812	G	A	116446812	3	1	172	1	0	0	0	0	1	0	0	0	9431	1377	48	3	5314	3	MED13L	12	116446812	Missense_Mutation	SNP	G	TCGA-G9-6373-01A-11D-1786-08	7253886	116446812	17405083	29	8179											
GPR32	2854	broad.mit.edu	37	chr19	51273918	51273918	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcaacctggggtcctgacaCgtgatcgctcttgttccagg	6	10	13	12	2	1	2	0	2	1	0	4	2	3	2	3	4	1	3	3	4	1	2			TCGA-G9-6373-01A-11D-1786-08	TCGA-G9-6373-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0caf5af2-ae80-4f39-ac6f-c2dbc2e8b820	906935a6-9e29-4146-a7a0-d60f2507e774	g.chr19:51273918C>T	ENST00000270590.4	+	1	198	c.61C>T	c.(61-63)Cgt>Tgt	p.R21C		NM_001506.1	NP_001497.1	O75388	GPR32_HUMAN	G protein-coupled receptor 32	21					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)	p.R21C(1)		breast(4)|endometrium(4)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	29		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028)		GGTCCTGACACGTGATCGCTC	0.522																																					Esophageal Squamous(113;152 1581 5732 15840 44398)	ENST00000270590.4																			1	Substitution - Missense(1)	p.R21C(1)	prostate(1)	breast(4)|endometrium(4)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	29						c.(61-63)Cgt>Tgt		G protein-coupled receptor 32							85	68	74					19																	51273918		2203	4300	6503	SO:0001583	missense	2854					integral to plasma membrane	N-formyl peptide receptor activity	g.chr19:51273918C>T	AF045764	CCDS12801.1	19q13.33	2012-08-20			ENSG00000142511	ENSG00000142511		"GPCR / Class A : Resolvin receptors"	4487	protein-coding gene	gene with protein product	"resolvin D1 receptor"	603195				9653656	Standard	NM_001506		Approved	RVDR1	uc010ycf.3	O75388		ENST00000270590.4:c.61C>T	19.37:g.51273918C>T	ENSP00000270590:p.Arg21Cys						p.R21C	NM_001506.1	NP_001497.1	O75388	GPR32_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028)	1	198	+		all_neural(266;0.131)	21					Q502U7|Q6NWS5	Missense_Mutation	SNP	ENST00000270590.4	37	c.61C>T	CCDS12801.1	.	.	.	.	.	.	.	.	.	.	C	8.311	0.822183	0.16678	.	.	ENSG00000142511	ENST00000270590	T	0.31510	1.49	1.71	-0.602	0.11634	.	.	.	.	.	T	0.11452	0.0279	N	0.08118	0	0.09310	N	1	P	0.43477	0.808	B	0.34452	0.183	T	0.14364	-1.0475	9	0.56958	D	0.05	.	4.2852	0.10851	0.0:0.4517:0.0:0.5483	.	21	O75388	GPR32_HUMAN	C	21	ENSP00000270590:R21C	ENSP00000270590:R21C	R	+	1	0	GPR32	55965730	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.259000	0.08721	-0.238000	0.09724	0.313000	0.20887	CGT		0.522	GPR32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465016.1			15	44	0	0	0	1	0	15	44					T	51273918	C	T	51273918	3	4	172	1	0	0	0	0	1	0	0	0	6688	536	19	1	63	1	GPR32	19	51273918	Missense_Mutation	SNP	C	TCGA-G9-6373-01A-11D-1786-08		51273918	7855065	30	8180											
GSTT1	2952	broad.mit.edu	37	chr22	24384213	24384213	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gggctgggacagcaggtccaGgtacagctccaggcccatag	9	5	15	12	0	0	0	0	0	0	0	2	1	2	1	3	5	3	4	3	5	2	2			TCGA-G9-6373-01A-11D-1786-08	TCGA-G9-6373-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0caf5af2-ae80-4f39-ac6f-c2dbc2e8b820	906935a6-9e29-4146-a7a0-d60f2507e774	g.chr22:24384213G>A	ENST00000248935.5	-	1	71	c.19C>T	c.(19-21)Ctg>Ttg	p.L7L	GSTT1_ENST00000439996.2_5'UTR	NM_000853.2	NP_000844.2	P30711	GSTT1_HUMAN		7	GST N-terminal.				glutathione derivative biosynthetic process (GO:1901687)|glutathione metabolic process (GO:0006749)|oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	glutathione peroxidase activity (GO:0004602)|glutathione transferase activity (GO:0004364)	p.L7L(1)		cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|ovary(1)|prostate(1)|skin(1)	6					Carboplatin(DB00958)|Cisplatin(DB00515)|Etoposide(DB00773)|Glutathione(DB00143)|Oxaliplatin(DB00526)	AGCAGGTCCAGGTACAGCTCC	0.587									Myelodysplasia and Acute Myeloid Leukemia (AML), Familial																													ENST00000248935.5																			1	Substitution - coding silent(1)	p.L7L(1)	prostate(1)	cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|ovary(1)|prostate(1)|skin(1)	6						c.(19-21)Ctg>Ttg		glutathione S-transferase theta 1	Glutathione(DB00143)						72	68	69					22																	24384213		1703	3600	5303	SO:0001819	synonymous_variant	2952	Myelodysplasia and Acute Myeloid Leukemia (AML), Familial	Familial Cancer Database	incl.: Familial Myelodysplastic syndrome (late-onset), Familial AML, Familial Monocytic Leukemia, Familial Monosomy 7 and AML	glutathione metabolic process	cytosol|soluble fraction	glutathione peroxidase activity|glutathione transferase activity	g.chr22:24384213G>A																												ENST00000248935.5:c.19C>T	22.37:g.24384213G>A						GSTT1_ENST00000439996.2_5'UTR	p.L7L	NM_000853.2	NP_000844.2	P30711	GSTT1_HUMAN			1	71	-			7			GST N-terminal.		O00226|Q5TZY2|Q6IC69|Q969K8|Q96IY3	Silent	SNP	ENST00000248935.5	37	c.19C>T	CCDS13822.1																																																																																				0.587	GSTT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320184.2			58	81	0	0	0	1	0	58	81					A	24384213	G	A	24384213	2	1	172	1	0	0	0	0	0	0	0	1	6845	991	35	3		3	GSTT1	22	24384213	Silent	SNP	G	TCGA-G9-6373-01A-11D-1786-08		24384213	26920353	31	8181											
KLHDC7B	113730	broad.mit.edu	37	chr22	50987891	50987891	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacgcctggaccccacgcgcGccactccccgcaggcacctt	6	4	10	21	5	0	0	0	0	0	0	1	2	1	1	7	2	0	2	7	2	0	1			TCGA-G9-6373-01A-11D-1786-08	TCGA-G9-6373-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0caf5af2-ae80-4f39-ac6f-c2dbc2e8b820	906935a6-9e29-4146-a7a0-d60f2507e774	g.chr22:50987891G>A	ENST00000395676.2	+	1	1430	c.1296G>A	c.(1294-1296)gcG>gcA	p.A432A	CTA-384D8.31_ENST00000434237.1_RNA	NM_138433.3	NP_612442.2	Q96G42	KLD7B_HUMAN	kelch domain containing 7B	432								p.A333A(1)		central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	14		all_cancers(38;1.53e-10)|all_epithelial(38;1.82e-09)|Breast(42;0.000448)|all_lung(38;0.000665)|Lung NSC(38;0.0104)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)		OV - Ovarian serous cystadenocarcinoma(4;7.49e-69)|all cancers(3;9.79e-66)|Epithelial(4;1.3e-63)|GBM - Glioblastoma multiforme(4;0.000399)|Lung(4;0.125)|BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		CCCCACGCGCGCCACTCCCCG	0.672																																						ENST00000395676.2																			1	Substitution - coding silent(1)	p.A333A(1)	prostate(1)	central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	14						c.(1294-1296)gcG>gcA		kelch domain containing 7B							73	75	74					22																	50987891		2201	4298	6499	SO:0001819	synonymous_variant	113730							g.chr22:50987891G>A	BC009980	CCDS14097.2	22q13.33	2006-11-29		2005-12-13	ENSG00000130487	ENSG00000130487			25145	protein-coding gene	gene with protein product							Standard	NM_138433		Approved	MGC16635	uc003bmi.3	Q96G42	OTTHUMG00000150250	ENST00000395676.2:c.1296G>A	22.37:g.50987891G>A							p.A432A	NM_138433.3	NP_612442.2	Q96G42	KLD7B_HUMAN		OV - Ovarian serous cystadenocarcinoma(4;7.49e-69)|all cancers(3;9.79e-66)|Epithelial(4;1.3e-63)|GBM - Glioblastoma multiforme(4;0.000399)|Lung(4;0.125)|BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)	1	1430	+		all_cancers(38;1.53e-10)|all_epithelial(38;1.82e-09)|Breast(42;0.000448)|all_lung(38;0.000665)|Lung NSC(38;0.0104)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)	432						Silent	SNP	ENST00000395676.2	37	c.1296G>A	CCDS14097.2																																																																																				0.672	KLHDC7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317089.2	NM_138433		51	116	0	0	0	1	0	51	116					A	50987891	G	A	50987891	2	1	172	1	0	0	0	0	0	0	0	1	8361	1074	38	1		1	KLHDC7B	22	50987891	Silent	SNP	G	TCGA-G9-6373-01A-11D-1786-08	26603678	50987891	316675	32	8182											
KIAA1210	57481	broad.mit.edu	37	chrX	118238971	118238971	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcacctgagtcgctgtcaaaCtcttatgtggtaaagccttc	9	13	8	11	1	3	1	2	1	1	0	5	1	3	1	2	1	2	2	2	1	4	3			TCGA-G9-6373-01A-11D-1786-08	TCGA-G9-6373-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0caf5af2-ae80-4f39-ac6f-c2dbc2e8b820	906935a6-9e29-4146-a7a0-d60f2507e774	g.chrX:118238971C>A	ENST00000402510.2	-	7	1051	c.1052G>T	c.(1051-1053)aGt>aTt	p.S351I		NM_020721.1	NP_065772.1	Q9ULL0	K1210_HUMAN	KIAA1210	351										breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	64						CGCTGTCAAACTCTTATGTGG	0.418																																						ENST00000402510.2																			0				breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	64						c.(1051-1053)aGt>aTt		KIAA1210							151	146	147					X																	118238971		1899	4118	6017	SO:0001583	missense	57481							g.chrX:118238971C>A	AB033036	CCDS48156.1	Xq24	2012-10-04			ENSG00000250423	ENSG00000250423			29218	protein-coding gene	gene with protein product						10574462	Standard	NM_020721		Approved		uc004era.4	Q9ULL0	OTTHUMG00000162980	ENST00000402510.2:c.1052G>T	X.37:g.118238971C>A	ENSP00000384670:p.Ser351Ile						p.S351I	NM_020721.1	NP_065772.1	Q9ULL0	K1210_HUMAN			7	1051	-			351					B7ZCI8|Q5JPN4	Missense_Mutation	SNP	ENST00000402510.2	37	c.1052G>T	CCDS48156.1	.	.	.	.	.	.	.	.	.	.	C	3.741	-0.053525	0.07362	.	.	ENSG00000250423;ENSG00000241087	ENST00000402510;ENST00000420240	T	0.10960	2.82	4.55	-3.46	0.04767	.	.	.	.	.	T	0.03011	0.0089	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.41466	-0.9507	9	0.02654	T	1	.	0.9924	0.01459	0.367:0.2997:0.1892:0.1441	.	351	Q9ULL0	K1210_HUMAN	I	351;187	ENSP00000384670:S351I	ENSP00000396164:S187I	S	-	2	0	RP13-347D8.5;RP13-347D8.6	118122999	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.304000	0.08199	-0.884000	0.03976	-0.474000	0.04947	AGT		0.418	KIAA1210-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371251.2	NM_020721		9	195	1	0	0.000673444	1	0.000673444	9	195					A	118238971	C	A	118238971	3	1	172	1	0	0	0	0	1	0	0	0	8214	565	20	5	4109	5	KIAA1210	23	118238971	Missense_Mutation	SNP	C	TCGA-G9-6373-01A-11D-1786-08		118238971	37031589	33	8183											
LUZP1	7798	broad.mit.edu	37	chr1	23418232	23418232	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttgtgaatggagagctcaaaAggggagctgacatggttgct	11	10	15	5	0	1	3	1	2	0	1	1	5	1	4	0	4	3	4	0	4	3	2			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr1:23418232A>G	ENST00000302291.4	-	4	3324	c.2523T>C	c.(2521-2523)ccT>ccC	p.P841P	LUZP1_ENST00000418342.1_Silent_p.P841P|LUZP1_ENST00000374623.3_Silent_p.P841P|LUZP1_ENST00000314174.5_Silent_p.P841P			Q86V48	LUZP1_HUMAN	leucine zipper protein 1	841					artery development (GO:0060840)|neural fold bending (GO:0021503)|ventricular septum development (GO:0003281)	membrane (GO:0016020)|nucleus (GO:0005634)				NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(12)|upper_aerodigestive_tract(2)	31		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Ovarian(437;0.00373)|Breast(348;0.00815)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;4.88e-27)|Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;4.31e-06)|GBM - Glioblastoma multiforme(114;8.64e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00112)|KIRC - Kidney renal clear cell carcinoma(1967;0.00176)|STAD - Stomach adenocarcinoma(196;0.0146)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.0967)|LUSC - Lung squamous cell carcinoma(448;0.199)		AGAGCTCAAAAGGGGAGCTGA	0.562																																						ENST00000302291.4																			0				NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(12)|upper_aerodigestive_tract(2)	31						c.(2521-2523)ccT>ccC		leucine zipper protein 1							90	86	87					1																	23418232		2203	4300	6503	SO:0001819	synonymous_variant	7798					nucleus		g.chr1:23418232A>G	BC051733	CCDS30628.1	1p36	2008-02-05			ENSG00000169641	ENSG00000169641			14985	protein-coding gene	gene with protein product		601422				8812416	Standard	NM_033631		Approved	LUZP	uc010odv.1	Q86V48	OTTHUMG00000003227	ENST00000302291.4:c.2523T>C	1.37:g.23418232A>G						LUZP1_ENST00000374623.3_Silent_p.P841P|LUZP1_ENST00000418342.1_Silent_p.P841P|LUZP1_ENST00000314174.5_Silent_p.P841P	p.P841P			Q86V48	LUZP1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;4.88e-27)|Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;4.31e-06)|GBM - Glioblastoma multiforme(114;8.64e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00112)|KIRC - Kidney renal clear cell carcinoma(1967;0.00176)|STAD - Stomach adenocarcinoma(196;0.0146)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.0967)|LUSC - Lung squamous cell carcinoma(448;0.199)	4	3324	-		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Ovarian(437;0.00373)|Breast(348;0.00815)|Myeloproliferative disorder(586;0.0255)	841					Q5TH93|Q8N4X3|Q8TEH1	Silent	SNP	ENST00000302291.4	37	c.2523T>C	CCDS30628.1																																																																																				0.562	LUZP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008900.3	NM_033631		3	104	0	0	0	6.4e-05	0	3	104					G	23418232	A	G	23418232	2	3	173	1	0	0	0	0	0	0	0	1	9086	59	3	4		4	LUZP1	1	23418232	Silent	SNP	A	TCGA-G9-6377-01A-11D-1961-08		23418232	225832389	1	8184											
C1orf173	127254	broad.mit.edu	37	chr1	75038906	75038906	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ttctatgcctggagggatctCccttttttctgtaaactctt	6	18	7	10	0	4	0	0	0	4	0	5	2	4	2	2	2	2	1	2	2	3	7			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr1:75038906C>A	ENST00000326665.5	-	14	2706	c.2488G>T	c.(2488-2490)Gag>Tag	p.E830*	C1orf173_ENST00000433746.2_5'UTR	NM_001002912.4	NP_001002912.4	Q5RHP9	ERIC3_HUMAN		830	Glu-rich.									NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						GGAGGGATCTCCCTTTTTTCT	0.572																																						ENST00000326665.5																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						c.(2488-2490)Gag>Tag		chromosome 1 open reading frame 173							91	86	88					1																	75038906		2203	4300	6503	SO:0001587	stop_gained	127254							g.chr1:75038906C>A																												ENST00000326665.5:c.2488G>T	1.37:g.75038906C>A	ENSP00000322609:p.Glu830*					C1orf173_ENST00000433746.2_5'UTR	p.E830*	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN			14	2706	-			830			Glu-rich.		Q68DL8|Q6GMR8|Q6ZSF9|Q8ND41	Nonsense_Mutation	SNP	ENST00000326665.5	37	c.2488G>T	CCDS30755.1	.	.	.	.	.	.	.	.	.	.	C	39	7.369580	0.98241	.	.	ENSG00000178965	ENST00000326665	.	.	.	5.34	2.35	0.29111	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.48119	T	0.1	-1.8504	8.699	0.34314	0.0:0.731:0.1235:0.1455	.	.	.	.	X	830	.	ENSP00000322609:E830X	E	-	1	0	C1orf173	74811494	0.005000	0.15991	0.000000	0.03702	0.001000	0.01503	0.937000	0.28951	0.612000	0.30071	0.561000	0.74099	GAG		0.572	C1orf173-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026516.1			13	130	1	0	5.50884e-06	0.00010058	6.86209e-05	13	130					A	75038906	C	A	75038906	4	1	173	1	0	0	0	0	0	1	0	0	2014	864	30	5	2108	5	C1orf173	1	75038906	Nonsense_Mutation	SNP	C	TCGA-G9-6377-01A-11D-1961-08	51620674	75038906	174211715	2	8185											
PALMD	54873	broad.mit.edu	37	chr1	100154852	100154852	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agcttcacaccccgcaaaaaAggctaatgactccttgggaa	14	7	8	12	1	1	1	1	1	0	0	2	2	2	2	3	2	1	3	3	2	5	3			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr1:100154852A>T	ENST00000263174.4	+	7	1411	c.1036A>T	c.(1036-1038)Agg>Tgg	p.R346W	PALMD_ENST00000605497.1_Missense_Mutation_p.R346W	NM_017734.4	NP_060204.1	Q9NP74	PALMD_HUMAN	palmdelphin	346					regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|membrane (GO:0016020)				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(8)|ovary(6)|pancreas(1)|prostate(2)	31		all_epithelial(167;0.000813)|all_lung(203;0.0214)|Lung NSC(277;0.0216)		Epithelial(280;0.067)|all cancers(265;0.117)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)		CCCGCAAAAAAGGCTAATGAC	0.488																																						ENST00000263174.4																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(8)|ovary(6)|pancreas(1)|prostate(2)	31						c.(1036-1038)Agg>Tgg		palmdelphin							60	57	58					1																	100154852		2203	4300	6503	SO:0001583	missense	54873				regulation of cell shape	cytoplasm|membrane		g.chr1:100154852A>T	AJ312214	CCDS758.1	1p22-p21	2008-07-18			ENSG00000099260	ENSG00000099260			15846	protein-coding gene	gene with protein product		610182		C1orf11		11478809	Standard	NM_017734		Approved	FLJ20271, PALML	uc001dsg.3	Q9NP74	OTTHUMG00000010764	ENST00000263174.4:c.1036A>T	1.37:g.100154852A>T	ENSP00000263174:p.Arg346Trp					PALMD_ENST00000605497.1_Missense_Mutation_p.R346W	p.R346W	NM_017734.4	NP_060204.1	Q9NP74	PALMD_HUMAN		Epithelial(280;0.067)|all cancers(265;0.117)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)	7	1411	+		all_epithelial(167;0.000813)|all_lung(203;0.0214)|Lung NSC(277;0.0216)	346					Q9H7E6|Q9NPM5|Q9NPM6|Q9NPS0	Missense_Mutation	SNP	ENST00000263174.4	37	c.1036A>T	CCDS758.1	.	.	.	.	.	.	.	.	.	.	A	11.94	1.788892	0.31685	.	.	ENSG00000099260	ENST00000263174	T	0.18960	2.18	5.71	5.71	0.89125	.	0.565657	0.19174	N	0.120878	T	0.13628	0.0330	L	0.29908	0.895	0.37249	D	0.906461	P;D	0.55800	0.953;0.973	B;P	0.49528	0.41;0.614	T	0.02581	-1.1138	10	0.87932	D	0	-5.3574	11.9125	0.52747	0.8547:0.1453:0.0:0.0	.	346;266	Q9NP74;Q9NP74-2	PALMD_HUMAN;.	W	346	ENSP00000263174:R346W	ENSP00000263174:R346W	R	+	1	2	PALMD	99927440	0.960000	0.32886	0.895000	0.35142	0.026000	0.11368	2.679000	0.46909	2.168000	0.68352	0.460000	0.39030	AGG		0.488	PALMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029672.1	NM_017734		15	27	0	0	0	0.000422831	0	15	27					T	100154852	A	T	100154852	3	4	173	1	0	0	0	0	1	0	0	0	11411	63	3	5	1062	5	PALMD	1	100154852	Missense_Mutation	SNP	A	TCGA-G9-6377-01A-11D-1961-08	25115946	100154852	149095769	3	8186											
PRPF3	9129	broad.mit.edu	37	chr1	150297416	150297416	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaaaatggcactgtcaaagAgggagctggatgagctgaaa	16	6	14	5	0	1	3	1	2	0	1	1	6	1	5	0	3	2	3	0	3	4	0			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr1:150297416A>G	ENST00000324862.6	+	2	181	c.16A>G	c.(16-18)Agg>Ggg	p.R6G	PRPF3_ENST00000543398.1_5'UTR|PRPF3_ENST00000414970.2_Missense_Mutation_p.R6G	NM_004698.2	NP_004689.1	O43395	PRPF3_HUMAN	pre-mRNA processing factor 3	6	PWI. {ECO:0000255|PROSITE- ProRule:PRU00627}.				mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	Cajal body (GO:0015030)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U4/U6 x U5 tri-snRNP complex (GO:0046540)	identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)			breast(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Lung NSC(24;5.57e-29)|Breast(34;0.000844)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)	Colorectal(1306;0.0149)		ACTGTCAAAGAGGGAGCTGGA	0.423																																					Ovarian(168;1070 2670 5178 20729)	ENST00000324862.6																			0				breast(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(16-18)Agg>Ggg		pre-mRNA processing factor 3							111	116	114					1																	150297416		2203	4300	6503	SO:0001583	missense	9129				nuclear mRNA splicing, via spliceosome	Cajal body|cytoplasm|nuclear speck|spliceosomal complex	protein binding	g.chr1:150297416A>G	AF001947	CCDS951.1	1q21.1	2013-07-16	2013-06-10		ENSG00000117360	ENSG00000117360			17348	protein-coding gene	gene with protein product		607301	"retinitis pigmentosa 18 (autosomal dominant)", "PRP3 pre-mRNA processing factor 3 homolog (yeast)", "PRP3 pre-mRNA processing factor 3 homolog (S. cerevisiae)"	RP18			Standard	NM_004698		Approved	Prp3, hPrp3, SNRNP90	uc001eum.4	O43395	OTTHUMG00000012807	ENST00000324862.6:c.16A>G	1.37:g.150297416A>G	ENSP00000315379:p.Arg6Gly					PRPF3_ENST00000543398.1_5'UTR|PRPF3_ENST00000414970.2_Missense_Mutation_p.R6G	p.R6G	NM_004698.2	NP_004689.1	O43395	PRPF3_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)	Colorectal(1306;0.0149)	2	181	+	Lung NSC(24;5.57e-29)|Breast(34;0.000844)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Colorectal(459;0.171)		6			PWI.		B4DSY9|O43446|Q5VT54	Missense_Mutation	SNP	ENST00000324862.6	37	c.16A>G	CCDS951.1	.	.	.	.	.	.	.	.	.	.	A	17.97	3.518287	0.64634	.	.	ENSG00000117360	ENST00000324862;ENST00000414970	T;T	0.41400	1.0;1.0	5.29	2.84	0.33178	Splicing factor PWI (3);	0.000000	0.85682	D	0.000000	T	0.45074	0.1324	M	0.64997	1.995	0.80722	D	1	P;D;D	0.69078	0.9;0.997;0.991	B;P;P	0.60789	0.227;0.879;0.831	T	0.50725	-0.8794	10	0.87932	D	0	-14.6106	12.918	0.58216	0.6004:0.3996:0.0:0.0	.	6;6;6	E7EVD1;B2R791;O43395	.;.;PRPF3_HUMAN	G	6	ENSP00000315379:R6G;ENSP00000387844:R6G	ENSP00000315379:R6G	R	+	1	2	PRPF3	148564040	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	1.307000	0.33516	0.354000	0.24105	0.533000	0.62120	AGG		0.423	PRPF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000035836.1	NM_004698		7	128	0	0	0	0.000157383	0	7	128					G	150297416	A	G	150297416	3	3	173	1	0	0	0	0	1	0	0	0	12565	295	11	4	18	4	PRPF3	1	150297416	Missense_Mutation	SNP	A	TCGA-G9-6377-01A-11D-1961-08	50142564	150297416	98953205	4	8187											
ST3GAL5	8869	broad.mit.edu	37	chr2	86067399	86067399	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcagccatgcattgactgtcGaagtagtgcaaaggtgttct	10	11	12	8	1	1	1	0	1	1	0	2	2	1	1	1	1	3	5	1	1	3	3			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr2:86067399G>A	ENST00000377332.3	-	7	1233	c.1125C>T	c.(1123-1125)ttC>ttT	p.F375F	ST3GAL5_ENST00000393808.3_Silent_p.F352F|ST3GAL5_ENST00000393805.1_Silent_p.F347F	NM_003896.3	NP_003887.3	Q9UNP4	SIAT9_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase 5	375					carbohydrate metabolic process (GO:0005975)|ganglioside biosynthetic process (GO:0001574)|glycosphingolipid biosynthetic process (GO:0006688)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	lactosylceramide alpha-2,3-sialyltransferase activity (GO:0047291)|neolactotetraosylceramide alpha-2,3-sialyltransferase activity (GO:0004513)|sialyltransferase activity (GO:0008373)			cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	15						ATTGACTGTCGAAGTAGTGCA	0.463																																						ENST00000377332.3																			0				cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	15						c.(1123-1125)ttC>ttT		ST3 beta-galactoside alpha-2,3-sialyltransferase 5							168	145	153					2																	86067399		2203	4300	6503	SO:0001819	synonymous_variant	8869				ganglioside biosynthetic process|protein glycosylation	integral to Golgi membrane|integral to plasma membrane	lactosylceramide alpha-2,3-sialyltransferase activity|neolactotetraosylceramide alpha-2,3-sialyltransferase activity	g.chr2:86067399G>A	AB018356	CCDS1986.2, CCDS42705.1	2p11.2	2013-03-01	2005-02-07	2005-02-07	ENSG00000115525	ENSG00000115525	2.4.99.9	"Sialyltransferases"	10872	protein-coding gene	gene with protein product		604402	"sialyltransferase 9 (CMP-NeuAc:lactosylceramide alpha-2,3-sialyltransferase; GM3 synthase)"	SIAT9		9822625	Standard	NM_003896		Approved	ST3GalV, SIATGM3S	uc002sqq.1	Q9UNP4	OTTHUMG00000130171	ENST00000377332.3:c.1125C>T	2.37:g.86067399G>A						ST3GAL5_ENST00000393805.1_Silent_p.F347F|ST3GAL5_ENST00000393808.3_Silent_p.F352F	p.F375F	NM_003896.3	NP_003887.3	Q9UNP4	SIAT9_HUMAN			7	1233	-			375					B3KM82|D6W5L9|O94902|Q53QU1|Q6NZX4|Q6YFL1	Silent	SNP	ENST00000377332.3	37	c.1125C>T	CCDS1986.2																																																																																				0.463	ST3GAL5-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000252486.1	NM_003896		32	72	0	0	0	0.00058488	0	32	72					A	86067399	G	A	86067399	2	1	173	1	0	0	0	0	0	0	0	1	15217	1049	37	2		2	ST3GAL5	2	86067399	Silent	SNP	G	TCGA-G9-6377-01A-11D-1961-08		86067399	157131974	5	8188											
TTN	7273	broad.mit.edu	37	chr2	179463526	179463526	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggcagacttgctggacccaCgccagcagcattgattgcat	9	9	11	12	1	0	2	0	1	0	1	0	3	0	3	2	2	4	5	2	2	0	3	rs373153121		TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr2:179463526C>T	ENST00000591111.1	-	241	52212	c.51988G>A	c.(51988-51990)Gtg>Atg	p.V17330M	TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.V18971M|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.V16403M|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.V10098M|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.V10031M|TTN_ENST00000460472.2_Missense_Mutation_p.V9906M			Q8WZ42	TITIN_HUMAN	titin	17330	Fibronectin type-III 25. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GCTGGACCCACGCCAGCAGCA	0.428																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(56911-56913)Gtg>Atg		titin		C	MET/VAL,MET/VAL,MET/VAL,MET/VAL	0,3760		0,0,1880	151	150	151		29716,49207,30091,30292	5.2	1	2		151	2,8190		0,2,4094	no	missense,missense,missense,missense	TTN	NM_003319.4,NM_133378.4,NM_133432.3,NM_133437.3	21,21,21,21	0,2,5974	TT,TC,CC		0.0244,0.0,0.0167	probably-damaging,probably-damaging,probably-damaging,probably-damaging	9906/26927,16403/33424,10031/27052,10098/27119	179463526	2,11950	1880	4096	5976	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179463526C>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.51988G>A	2.37:g.179463526C>T	ENSP00000465570:p.Val17330Met					TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.V17330M|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.V10098M|TTN_ENST00000342992.6_Missense_Mutation_p.V16403M|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.V10031M|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.V9906M	p.V18971M	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		291	57135	-			17330			Fibronectin type-III 37.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.56911G>A		.	.	.	.	.	.	.	.	.	.	C	12.41	1.929785	0.34096	0.0	2.44E-4	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.54866	0.55;0.55;0.55;0.55	6.05	5.17	0.71159	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.62097	0.2400	L	0.35593	1.075	0.43719	D	0.996196	P;P;P;D	0.89917	0.841;0.841;0.841;1.0	B;B;P;D	0.67382	0.408;0.408;0.572;0.951	T	0.66436	-0.5924	9	0.87932	D	0	.	15.6409	0.77001	0.0:0.9338:0.0:0.0662	.	9906;10031;10098;17330	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	M	16403;9906;10098;10031;9904	ENSP00000343764:V16403M;ENSP00000434586:V9906M;ENSP00000340554:V10098M;ENSP00000352154:V10031M	ENSP00000340554:V10098M	V	-	1	0	TTN	179171771	0.996000	0.38824	1.000000	0.80357	0.927000	0.56198	2.547000	0.45786	1.547000	0.49401	0.650000	0.86243	GTG		0.428	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		18	235	0	0	0	0.000958276	0	18	235					T	179463526	C	T	179463526	3	4	173	1	0	0	0	0	1	0	0	0	16732	536	19	1	51070	1	TTN	2	179463526	Missense_Mutation	SNP	C	TCGA-G9-6377-01A-11D-1961-08	93396127	179463526	63735847	6	8189											
DLEC1	9940	broad.mit.edu	37	chr3	38129853	38129853	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgccttcggtgtttgagctgGccccgggacatgctatatta	6	13	12	10	2	0	1	0	1	0	0	1	2	0	2	3	3	3	3	3	3	3	5			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr3:38129853G>A	ENST00000308059.6	+	10	1660	c.1639G>A	c.(1639-1641)Gcc>Acc	p.A547T	DLEC1_ENST00000346219.3_Missense_Mutation_p.A547T|DLEC1_ENST00000452631.2_Missense_Mutation_p.A547T					deleted in lung and esophageal cancer 1											NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(3)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	51				KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)		GTTTGAGCTGGCCCCGGGACA	0.458																																						ENST00000308059.6																			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(3)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	51						c.(1639-1641)Gcc>Acc		deleted in lung and esophageal cancer 1							142	141	141					3																	38129853		1958	4135	6093	SO:0001583	missense	9940				negative regulation of cell proliferation	cytoplasm		g.chr3:38129853G>A	AB020522	CCDS2672.2	3p21.3	2014-07-31			ENSG00000008226	ENSG00000008226			2899	protein-coding gene	gene with protein product	"cilia and flagella associated protein 81"	604050				10213508	Standard	XM_005265630		Approved	DLC1, CFAP81	uc003chp.1	Q9Y238	OTTHUMG00000131085	ENST00000308059.6:c.1639G>A	3.37:g.38129853G>A	ENSP00000308597:p.Ala547Thr					DLEC1_ENST00000452631.2_Missense_Mutation_p.A547T|DLEC1_ENST00000346219.3_Missense_Mutation_p.A547T	p.A547T			Q9Y238	DLEC1_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)	10	1660	+			547						Missense_Mutation	SNP	ENST00000308059.6	37	c.1639G>A	CCDS2672.2	.	.	.	.	.	.	.	.	.	.	G	11.16	1.555465	0.27739	.	.	ENSG00000008226	ENST00000308059;ENST00000346219;ENST00000452631	T;T;T	0.05258	3.48;3.47;3.7	4.84	3.88	0.44766	.	0.672334	0.15620	N	0.252955	T	0.08088	0.0202	M	0.64997	1.995	0.24475	N	0.994377	P;P;P	0.43094	0.799;0.692;0.799	B;B;B	0.42522	0.23;0.39;0.23	T	0.15925	-1.0420	10	0.16420	T	0.52	-19.1126	6.9558	0.24570	0.1003:0.0:0.722:0.1777	.	547;547;547	F8W6T4;Q9Y238-3;Q9Y238	.;.;DLEC1_HUMAN	T	547	ENSP00000308597:A547T;ENSP00000315914:A547T;ENSP00000410427:A547T	ENSP00000308597:A547T	A	+	1	0	DLEC1	38104857	0.845000	0.29573	1.000000	0.80357	0.652000	0.38707	1.185000	0.32065	2.498000	0.84270	0.591000	0.81541	GCC		0.458	DLEC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253745.3	NM_007337		5	138	0	0	0	8.12818e-05	0	5	138					A	38129853	G	A	38129853	3	1	173	1	0	0	0	0	1	0	0	0	4552	1203	42	3	1677	3	DLEC1	3	38129853	Missense_Mutation	SNP	G	TCGA-G9-6377-01A-11D-1961-08		38129853	159892577	7	8190											
CCR9	10803	broad.mit.edu	37	chr3	45942472	45942472	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtgttcatcgtgggtgccttGggcaacagtcttgttatcct	5	15	12	9	1	2	0	1	0	1	0	4	0	3	0	2	2	2	3	2	2	2	4			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr3:45942472G>T	ENST00000357632.2	+	3	372	c.192G>T	c.(190-192)ttG>ttT	p.L64F	Y_RNA_ENST00000364765.1_RNA|CCR9_ENST00000395963.2_Missense_Mutation_p.L52F|LZTFL1_ENST00000536047.1_Intron|CCR9_ENST00000355983.2_Missense_Mutation_p.L52F|LZTFL1_ENST00000539217.1_Intron|CCR9_ENST00000422395.1_Missense_Mutation_p.W93L	NM_001256369.1|NM_031200.2	NP_001243298.1|NP_112477.1	P51686	CCR9_HUMAN	chemokine (C-C motif) receptor 9	64					cellular defense response (GO:0006968)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|positive regulation of cytosolic calcium ion concentration (GO:0007204)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	C-C chemokine receptor activity (GO:0016493)|chemokine receptor activity (GO:0004950)			breast(1)|endometrium(4)|large_intestine(8)|lung(2)|ovary(2)|prostate(2)|skin(1)	20				BRCA - Breast invasive adenocarcinoma(193;0.00118)|KIRC - Kidney renal clear cell carcinoma(197;0.0182)|Kidney(197;0.0214)		TGGGTGCCTTGGGCAACAGTC	0.473																																						ENST00000357632.2																			0				breast(1)|endometrium(4)|large_intestine(8)|lung(2)|ovary(2)|prostate(2)|skin(1)	20						c.(190-192)ttG>ttT		chemokine (C-C motif) receptor 9							228	189	202					3																	45942472		2203	4300	6503	SO:0001583	missense	10803				cellular defense response|chemotaxis|elevation of cytosolic calcium ion concentration|immune response	integral to plasma membrane		g.chr3:45942472G>T	AJ132337	CCDS2732.1, CCDS2733.1	3p21.31	2012-09-20			ENSG00000173585	ENSG00000173585		"GPCR / Class A : Chemokine receptors : C-C motif", "CD molecules"	1610	protein-coding gene	gene with protein product		604738		GPR28		10229797	Standard	NM_006641		Approved	GPR-9-6, CDw199	uc003coz.2	P51686	OTTHUMG00000133450	ENST00000357632.2:c.192G>T	3.37:g.45942472G>T	ENSP00000350256:p.Leu64Phe					LZTFL1_ENST00000536047.1_Intron|CCR9_ENST00000355983.2_Missense_Mutation_p.L52F|LZTFL1_ENST00000539217.1_Intron|CCR9_ENST00000422395.1_Missense_Mutation_p.W93L|CCR9_ENST00000395963.2_Missense_Mutation_p.L52F	p.L64F	NM_001256369.1|NM_031200.2	NP_001243298.1|NP_112477.1	P51686	CCR9_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00118)|KIRC - Kidney renal clear cell carcinoma(197;0.0182)|Kidney(197;0.0214)	3	372	+			64					Q4VBM3|Q549E0|Q9UQQ6	Missense_Mutation	SNP	ENST00000357632.2	37	c.192G>T	CCDS2732.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	2.884|2.884	-0.231218|-0.231218	0.05983|0.05983	.|.	.|.	ENSG00000173585|ENSG00000173585	ENST00000357632;ENST00000395963;ENST00000355983|ENST00000422395	T;T;T|.	0.41400|.	1.0;1.0;1.0|.	5.14|5.14	4.14|4.14	0.48551|0.48551	.|.	0.729179|.	0.12855|.	N|.	0.433571|.	T|T	0.49115|0.49115	0.1538|0.1538	L|L	0.41492|0.41492	1.28|1.28	0.38349|0.38349	D|D	0.944281|0.944281	B|.	0.33135|.	0.399|.	B|.	0.40228|.	0.323|.	T|T	0.56619|0.56619	-0.7949|-0.7949	10|6	0.72032|0.87932	D|D	0.01|0	.|.	5.103|5.103	0.14770|0.14770	0.1654:0.0:0.6392:0.1954|0.1654:0.0:0.6392:0.1954	.|.	64|.	P51686|.	CCR9_HUMAN|.	F|L	64;52;52|93	ENSP00000350256:L64F;ENSP00000379292:L52F;ENSP00000348260:L52F|.	ENSP00000348260:L52F|ENSP00000393267:W93L	L|W	+|+	3|2	2|0	CCR9|CCR9	45917476|45917476	1.000000|1.000000	0.71417|0.71417	0.992000|0.992000	0.48379|0.48379	0.004000|0.004000	0.04260|0.04260	1.054000|1.054000	0.30455|0.30455	2.392000|2.392000	0.81423|0.81423	0.563000|0.563000	0.77884|0.77884	TTG|TGG		0.473	CCR9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257323.2			9	175	1	0	0.000673444	0.000673444	0.00821029	9	175					T	45942472	G	T	45942472	3	4	173	1	0	0	0	0	1	0	0	0	2948	1339	47	5	198	5	CCR9	3	45942472	Missense_Mutation	SNP	G	TCGA-G9-6377-01A-11D-1961-08	7812619	45942472	152079958	8	8191											
OR5H14	403273	broad.mit.edu	37	chr3	97868263	97868263	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atgcaacattgctgacagagTttgttctcacaggattttta	11	15	8	7	0	1	2	1	1	1	1	2	3	1	3	0	1	3	4	0	1	2	6			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr3:97868263T>C	ENST00000437310.1	+	1	94	c.34T>C	c.(34-36)Ttt>Ctt	p.F12L	RP11-343D2.11_ENST00000508964.1_RNA	NM_001005514.1	NP_001005514.1	A6NHG9	O5H14_HUMAN	olfactory receptor, family 5, subfamily H, member 14	12						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	31						GCTGACAGAGTTTGTTCTCAC	0.393																																						ENST00000437310.1																			0				breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	31						c.(34-36)Ttt>Ctt		olfactory receptor, family 5, subfamily H, member 14							48	51	50					3																	97868263		2201	4275	6476	SO:0001583	missense	403273				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr3:97868263T>C		CCDS33798.1	3q11.2	2013-09-23			ENSG00000236032	ENSG00000236032		"GPCR / Class A : Olfactory receptors"	31286	protein-coding gene	gene with protein product							Standard	NM_001005514		Approved		uc003dsg.1	A6NHG9	OTTHUMG00000160079	ENST00000437310.1:c.34T>C	3.37:g.97868263T>C	ENSP00000401706:p.Phe12Leu						p.F12L	NM_001005514.1	NP_001005514.1	A6NHG9	O5H14_HUMAN			1	94	+			12					B9EH15	Missense_Mutation	SNP	ENST00000437310.1	37	c.34T>C	CCDS33798.1	.	.	.	.	.	.	.	.	.	.	T	12.84	2.058176	0.36277	.	.	ENSG00000236032	ENST00000437310	T	0.04454	3.62	2.49	1.27	0.21489	.	0.000000	0.43416	D	0.000563	T	0.07863	0.0197	M	0.80422	2.495	0.09310	N	1	B	0.23735	0.09	B	0.27076	0.076	T	0.21042	-1.0257	10	0.72032	D	0.01	.	5.6353	0.17534	0.0:0.1524:0.0:0.8476	.	12	A6NHG9	O5H14_HUMAN	L	12	ENSP00000401706:F12L	ENSP00000401706:F12L	F	+	1	0	OR5H14	99350953	0.817000	0.29147	0.367000	0.25926	0.426000	0.31534	1.939000	0.40213	0.198000	0.20407	0.164000	0.16699	TTT		0.393	OR5H14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359112.1			9	126	0	0	0	0.000442599	0	9	126					C	97868263	T	C	97868263	3	2	173	1	0	0	0	0	1	0	0	0	11160	1725	60	4	36	4	OR5H14	3	97868263	Missense_Mutation	SNP	T	TCGA-G9-6377-01A-11D-1961-08	51925791	97868263	100154167	9	8192											
DNAJC13	23317	broad.mit.edu	37	chr3	132165395	132165395	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ccttagaagtaacaaatcagGtaatcctgttagaagctgtt	14	12	8	7	0	1	2	1	0	0	2	2	2	2	2	2	1	2	5	2	1	7	5			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr3:132165395G>T	ENST00000260818.6	+	3	392		c.e3+1		DNAJC13_ENST00000486798.1_Splice_Site	NM_015268.3	NP_056083.3	O75165	DJC13_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 13						osteoblast differentiation (GO:0001649)	extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)				breast(4)|endometrium(2)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|urinary_tract(1)	34						AACAAATCAGGTAATCCTGTT	0.368																																						ENST00000260818.6																			0				breast(4)|endometrium(2)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|urinary_tract(1)	34						c.e3+1		DnaJ (Hsp40) homolog, subfamily C, member 13							73	72	72					3																	132165395		2202	4296	6498	SO:0001630	splice_region_variant	23317						heat shock protein binding	g.chr3:132165395G>T	AB014578	CCDS33857.1	3q22.1	2011-09-02			ENSG00000138246	ENSG00000138246		"Heat shock proteins / DNAJ (HSP40)"	30343	protein-coding gene	gene with protein product		614334				12438707	Standard	NM_015268		Approved	RME8, KIAA0678	uc003eor.3	O75165	OTTHUMG00000159674	ENST00000260818.6:c.144+1G>T	3.37:g.132165395G>T						DNAJC13_ENST00000486798.1_Splice_Site		NM_015268.3	NP_056083.3	O75165	DJC13_HUMAN			3	392	+								Q3L0T1|Q6PI82|Q6UJ77|Q6ZSW1|Q6ZUT5|Q86XG3|Q96DC1|Q9BWK9	Splice_Site	SNP	ENST00000260818.6	37		CCDS33857.1	.	.	.	.	.	.	.	.	.	.	G	25.2	4.617414	0.87359	.	.	ENSG00000138246	ENST00000260818	.	.	.	5.41	5.41	0.78517	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.1961	0.93690	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	DNAJC13	133648085	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	9.869000	0.99810	2.543000	0.85770	0.467000	0.42956	.		0.368	DNAJC13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356807.2	NM_015268	Intron	17	28	1	0	4.96729e-08	0.000132079	6.6192e-07	17	28					T	132165395	G	T	132165395	5	4	173	1	0	0	0	0	0	0	1	0	4632	1275	44	5	151	5	DNAJC13	3	132165395	Splice_Site	SNP	G	TCGA-G9-6377-01A-11D-1961-08	34297132	132165395	65857035	10	8193											
FETUB	26998	broad.mit.edu	37	chr3	186362642	186362642	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggctgccaccgagtctcttgCgaaatacaacaatgagaaca	14	7	9	11	2	1	1	0	1	1	1	2	4	1	1	2	1	5	1	2	1	5	2	rs149523201		TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr3:186362642C>G	ENST00000265029.3	+	4	628	c.527C>G	c.(526-528)gCg>gGg	p.A176G	RP11-134F2.2_ENST00000455926.1_RNA|RP11-134F2.2_ENST00000428501.1_RNA|FETUB_ENST00000450521.1_Missense_Mutation_p.A176G|FETUB_ENST00000488561.1_3'UTR|FETUB_ENST00000539949.1_Missense_Mutation_p.A28G|FETUB_ENST00000382134.3_Missense_Mutation_p.A111G|FETUB_ENST00000382136.3_Missense_Mutation_p.A139G	NM_014375.2	NP_055190.2	Q9UGM5	FETUB_HUMAN	fetuin B	176	Cystatin fetuin-B-type 2. {ECO:0000255|PROSITE-ProRule:PRU00862}.				binding of sperm to zona pellucida (GO:0007339)|negative regulation of endopeptidase activity (GO:0010951)|single fertilization (GO:0007338)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	cysteine-type endopeptidase inhibitor activity (GO:0004869)|metalloendopeptidase inhibitor activity (GO:0008191)			endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)	20	all_cancers(143;6.64e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.73e-20)	GBM - Glioblastoma multiforme(93;0.0479)		GAGTCTCTTGCGAAATACAAC	0.478																																						ENST00000265029.3																			0				endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)	20						c.(526-528)gCg>gGg		fetuin B							110	105	107					3																	186362642		2203	4300	6503	SO:0001583	missense	26998					extracellular space	cysteine-type endopeptidase inhibitor activity	g.chr3:186362642C>G	AJ242928	CCDS3279.1	3q27.3	2008-05-15			ENSG00000090512	ENSG00000090512			3658	protein-coding gene	gene with protein product		605954				10947975	Standard	XM_005247350		Approved		uc003fqn.3	Q9UGM5	OTTHUMG00000156586	ENST00000265029.3:c.527C>G	3.37:g.186362642C>G	ENSP00000265029:p.Ala176Gly					FETUB_ENST00000539949.1_Missense_Mutation_p.A28G|FETUB_ENST00000488561.1_3'UTR|RP11-134F2.2_ENST00000455926.1_RNA|RP11-134F2.2_ENST00000428501.1_RNA|FETUB_ENST00000450521.1_Missense_Mutation_p.A176G|FETUB_ENST00000382134.3_Missense_Mutation_p.A111G|FETUB_ENST00000382136.3_Missense_Mutation_p.A139G	p.A176G	NM_014375.2	NP_055190.2	Q9UGM5	FETUB_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;5.73e-20)	GBM - Glioblastoma multiforme(93;0.0479)	4	628	+	all_cancers(143;6.64e-12)|Ovarian(172;0.0339)		176			Cystatin fetuin-B-type 2.		B2RCW6|E9PG06|Q1RMZ0|Q5J876|Q6DK58|Q6GRB6|Q9Y6Z0	Missense_Mutation	SNP	ENST00000265029.3	37	c.527C>G	CCDS3279.1	.	.	.	.	.	.	.	.	.	.	C	16.11	3.030901	0.54790	.	.	ENSG00000090512	ENST00000450521;ENST00000431018;ENST00000539949;ENST00000265029;ENST00000382134;ENST00000382136	T;T;T;T;T;T	0.28666	1.6;1.6;1.6;1.6;1.6;1.6	5.29	1.03	0.20045	Proteinase inhibitor I25, cystatin (2);	0.194955	0.36374	N	0.002624	T	0.47173	0.1431	M	0.78223	2.4	0.29123	N	0.88011	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.75484	0.986;0.986;0.974	T	0.38308	-0.9667	10	0.62326	D	0.03	-3.8635	3.6035	0.08034	0.2918:0.4798:0.1424:0.0859	.	139;111;176	E9PG06;E9PG08;Q9UGM5	.;.;FETUB_HUMAN	G	176;28;28;176;111;139	ENSP00000404288:A176G;ENSP00000396581:A28G;ENSP00000443704:A28G;ENSP00000265029:A176G;ENSP00000371569:A111G;ENSP00000371571:A139G	ENSP00000265029:A176G	A	+	2	0	FETUB	187845336	0.371000	0.25056	0.943000	0.38184	0.588000	0.36517	-0.357000	0.07651	0.276000	0.22118	0.655000	0.94253	GCG		0.478	FETUB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344679.1	NM_014375		6	112	0	0	0	3.59834e-05	0	6	112					G	186362642	C	G	186362642	3	3	173	1	0	0	0	0	1	0	0	0	5821	768	27	5	541	5	FETUB	3	186362642	Missense_Mutation	SNP	C	TCGA-G9-6377-01A-11D-1961-08	54197247	186362642	11659788	11	8194											
SLIT2	9353	broad.mit.edu	37	chr4	20255579	20255579	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtcacgggctggcgctgcgCagcgtgcccaggaatatccc	6	7	14	14	4	1	0	1	0	0	0	2	1	2	1	2	3	3	3	2	3	2	1			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr4:20255579C>A	ENST00000504154.1	+	1	393	c.141C>A	c.(139-141)cgC>cgA	p.R47R	SLIT2_ENST00000273739.5_Silent_p.R47R|SLIT2_ENST00000503823.1_Silent_p.R47R|SLIT2_ENST00000503837.1_Silent_p.R47R	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	47	LRRNT.				apoptotic process involved in luteolysis (GO:0061364)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|branching morphogenesis of an epithelial tube (GO:0048754)|cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to heparin (GO:0071504)|cellular response to hormone stimulus (GO:0032870)|chemorepulsion involved in postnatal olfactory bulb interneuron migration (GO:0021836)|corticospinal neuron axon guidance through spinal cord (GO:0021972)|dorsal/ventral axon guidance (GO:0033563)|in utero embryonic development (GO:0001701)|induction of negative chemotaxis (GO:0050929)|mammary duct terminal end bud growth (GO:0060763)|metanephros development (GO:0001656)|motor neuron axon guidance (GO:0008045)|negative chemotaxis (GO:0050919)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of axon extension (GO:0030517)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cellular response to growth factor stimulus (GO:0090288)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of gene expression (GO:0010629)|negative regulation of lamellipodium assembly (GO:0010593)|negative regulation of leukocyte chemotaxis (GO:0002689)|negative regulation of monocyte chemotaxis (GO:0090027)|negative regulation of mononuclear cell migration (GO:0071676)|negative regulation of neutrophil chemotaxis (GO:0090024)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of retinal ganglion cell axon guidance (GO:0090260)|negative regulation of small GTPase mediated signal transduction (GO:0051058)|negative regulation of smooth muscle cell chemotaxis (GO:0071672)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of vascular permeability (GO:0043116)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axonogenesis (GO:0050772)|response to cortisol (GO:0051414)|retinal ganglion cell axon guidance (GO:0031290)|Roundabout signaling pathway (GO:0035385)|single organismal cell-cell adhesion (GO:0016337)|ureteric bud development (GO:0001657)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|chemorepellent activity (GO:0045499)|GTPase inhibitor activity (GO:0005095)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|laminin-1 binding (GO:0043237)|protein homodimerization activity (GO:0042803)|proteoglycan binding (GO:0043394)|Roundabout binding (GO:0048495)			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						TGGCGCTGCGCAGCGTGCCCA	0.667																																						ENST00000504154.1																			0				NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						c.(139-141)cgC>cgA		slit homolog 2 (Drosophila)							96	81	86					4																	20255579		2203	4300	6503	SO:0001819	synonymous_variant	9353				apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding	g.chr4:20255579C>A	AF055585	CCDS3426.1, CCDS75110.1, CCDS75111.1	4p15.2	2008-08-01	2001-11-28		ENSG00000145147	ENSG00000145147			11086	protein-coding gene	gene with protein product		603746	"slit (Drosophila) homolog 2"	SLIL3		9813312, 18269211	Standard	XM_005248211		Approved	Slit-2	uc003gpr.1	O94813	OTTHUMG00000128551	ENST00000504154.1:c.141C>A	4.37:g.20255579C>A						SLIT2_ENST00000273739.5_Silent_p.R47R|SLIT2_ENST00000503823.1_Silent_p.R47R|SLIT2_ENST00000503837.1_Silent_p.R47R	p.R47R	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN			1	393	+			47			LRRNT.		B7ZLR5|O95710|Q17RU3|Q9Y5Q7	Silent	SNP	ENST00000504154.1	37	c.141C>A	CCDS3426.1																																																																																				0.667	SLIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250396.2			8	129	1	0	1.06961e-07	0.000157383	1.39293e-06	8	129					A	20255579	C	A	20255579	2	1	173	1	0	0	0	0	0	0	0	1	14740	697	25	5		5	SLIT2	4	20255579	Silent	SNP	C	TCGA-G9-6377-01A-11D-1961-08		20255579	170898697	12	8195											
GABRB1	2560	broad.mit.edu	37	chr4	47427856	47427856	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagccgcgaggcctacgggCgcgccctggaccggcacggg	5	2	18	16	7	0	0	0	0	0	0	0	2	0	1	4	5	2	2	4	5	1	1			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr4:47427856C>T	ENST00000295454.3	+	9	1538	c.1246C>T	c.(1246-1248)Cgc>Tgc	p.R416C	GABRB1_ENST00000538619.1_Missense_Mutation_p.R346C	NM_000812.3	NP_000803.2	P18505	GBRB1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 1	416					cellular response to histamine (GO:0071420)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|GABA-A receptor complex (GO:1902711)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)|ligand-gated ion channel activity (GO:0015276)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44					Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Gamma Hydroxybutyric Acid(DB01440)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lindane(DB00431)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	GGCCTACGGGCGCGCCCTGGA	0.642																																						ENST00000295454.3																			0				central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						c.(1246-1248)Cgc>Tgc		gamma-aminobutyric acid (GABA) A receptor, beta 1	Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)						40	46	44					4																	47427856		2203	4299	6502	SO:0001583	missense	2560				synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chr4:47427856C>T		CCDS3474.1	4p12	2012-06-22			ENSG00000163288	ENSG00000163288		"GABA receptors", "Ligand-gated ion channels / GABA(A) receptors"	4081	protein-coding gene	gene with protein product	"GABA(A) receptor, beta 1"	137190					Standard	NM_000812		Approved		uc003gxh.3	P18505	OTTHUMG00000044269	ENST00000295454.3:c.1246C>T	4.37:g.47427856C>T	ENSP00000295454:p.Arg416Cys					GABRB1_ENST00000538619.1_Missense_Mutation_p.R346C	p.R416C	NM_000812.3	NP_000803.2	P18505	GBRB1_HUMAN			9	1538	+			416					B2R6U7|D6REL3|Q16166|Q8TBK3	Missense_Mutation	SNP	ENST00000295454.3	37	c.1246C>T	CCDS3474.1	.	.	.	.	.	.	.	.	.	.	C	11.28	1.593133	0.28357	.	.	ENSG00000163288	ENST00000295454;ENST00000538619	D;D	0.85861	-2.04;-2.04	5.38	5.38	0.77491	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.222175	0.37715	N	0.001962	D	0.90212	0.6940	M	0.81802	2.56	0.58432	D	0.999999	D;D	0.71674	0.998;0.996	P;P	0.57776	0.827;0.567	D	0.90597	0.4541	10	0.62326	D	0.03	-8.6877	11.9948	0.53196	0.287:0.713:0.0:0.0	.	346;416	F5GXV5;P18505	.;GBRB1_HUMAN	C	416;346	ENSP00000295454:R416C;ENSP00000440330:R346C	ENSP00000295454:R416C	R	+	1	0	GABRB1	47122613	0.999000	0.42202	0.993000	0.49108	0.039000	0.13416	2.371000	0.44248	2.803000	0.96430	0.650000	0.86243	CGC		0.642	GABRB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216896.1			6	51	0	0	0	3.59834e-05	0	6	51					T	47427856	C	T	47427856	3	4	173	1	0	0	0	0	1	0	0	0	6166	768	27	1	1280	1	GABRB1	4	47427856	Missense_Mutation	SNP	C	TCGA-G9-6377-01A-11D-1961-08	27172277	47427856	143726420	13	8196											
SYNPO2	171024	broad.mit.edu	37	chr4	119978626	119978626	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttctacatctccttgggtatAccagcctacttatagttact	9	16	5	11	0	2	0	0	0	2	0	3	0	2	0	3	1	5	2	3	1	7	9			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr4:119978626A>G	ENST00000307142.4	+	5	3519	c.3323A>G	c.(3322-3324)tAc>tGc	p.Y1108C	SYNPO2_ENST00000448416.2_Missense_Mutation_p.T110A	NM_133477.2	NP_597734.2	Q9UMS6	SYNP2_HUMAN	synaptopodin 2	0						actin cytoskeleton (GO:0015629)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|Z disc (GO:0030018)	14-3-3 protein binding (GO:0071889)|muscle alpha-actinin binding (GO:0051371)			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(18)|ovary(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						CCTTGGGTATACCAGCCTACT	0.448																																						ENST00000307142.4																			0				breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(18)|ovary(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						c.(3322-3324)tAc>tGc		synaptopodin 2							90	89	90					4																	119978626		2203	4300	6503	SO:0001583	missense	171024					nucleus|Z disc	14-3-3 protein binding|actin binding|muscle alpha-actinin binding	g.chr4:119978626A>G	AJ010482	CCDS34054.1, CCDS47128.1, CCDS47129.1, CCDS75185.1, CCDS75186.1	4q26	2008-08-29			ENSG00000172403	ENSG00000172403			17732	protein-coding gene	gene with protein product						11673475, 17828378	Standard	NM_133477		Approved	MYOPODIN	uc010inb.3	Q9UMS6	OTTHUMG00000161165	ENST00000307142.4:c.3323A>G	4.37:g.119978626A>G	ENSP00000306015:p.Tyr1108Cys					SYNPO2_ENST00000448416.2_Missense_Mutation_p.T110A	p.Y1108C	NM_133477.2	NP_597734.2	Q9UMS6	SYNP2_HUMAN			5	3519	+			765					B2RWP6|B2Y8J9|Q9UK89|S5XAM4	Missense_Mutation	SNP	ENST00000307142.4	37	c.3323A>G	CCDS34054.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	A|A|A	18.74|18.74|18.74	3.688038|3.688038|3.688038	0.68271|0.68271|0.68271	.|.|.	.|.|.	ENSG00000172403|ENSG00000172403|ENSG00000172403	ENST00000504178|ENST00000448416|ENST00000307142	.|T|T	.|0.63580|0.07908	.|-0.05|3.15	5.7|5.7|5.7	-2.08|-2.08|-2.08	0.07254|0.07254|0.07254	.|.|.	.|.|0.384743	.|.|0.19214	.|.|N	.|.|0.119857	T|T|T	0.04318|0.04318|0.04318	0.0119|0.0119|0.0119	L|L|L	0.27053|0.27053|0.27053	0.805|0.805|0.805	0.09310|0.09310|0.09310	N|N|N	1|1|1	.|B|B;B	.|0.02656|0.06786	.|0.0|0.001;0.001	.|B|B;B	.|0.01281|0.06405	.|0.0|0.001;0.002	T|T|T	0.39292|0.39292|0.39292	-0.9621|-0.9621|-0.9621	5|8|9	.|.|.	.|.|.	.|.|.	0.0673|0.0673|0.0673	4.8691|4.8691|4.8691	0.13624|0.13624|0.13624	0.2674:0.0:0.2605:0.4722|0.2674:0.0:0.2605:0.4722|0.2674:0.0:0.2605:0.4722	.|.|.	.|110|1108;1108	.|B4E258|B9EG60;Q9UMS6-2	.|.|.;.	M|A|C	1001|110|1108	.|ENSP00000412623:T110A|ENSP00000306015:Y1108C	.|.|.	I|T|Y	+|+|+	3|1|2	3|0|0	SYNPO2|SYNPO2|SYNPO2	120198074|120198074|120198074	0.000000|0.000000|0.000000	0.05858|0.05858|0.05858	0.010000|0.010000|0.010000	0.14722|0.14722|0.14722	0.708000|0.708000|0.708000	0.40852|0.40852|0.40852	-0.622000|-0.622000|-0.622000	0.05553|0.05553|0.05553	-0.643000|-0.643000|-0.643000	0.05473|0.05473|0.05473	0.533000|0.533000|0.533000	0.62120|0.62120|0.62120	ATA|ACC|TAC		0.448	SYNPO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364018.1			22	56	0	0	0	0.000295444	0	22	56					G	119978626	A	G	119978626	3	3	173	1	0	0	0	0	1	0	0	0	15454	391	14	4	3453	4	SYNPO2	4	119978626	Missense_Mutation	SNP	A	TCGA-G9-6377-01A-11D-1961-08	72550770	119978626	71175650	14	8197											
ITGA2	3673	broad.mit.edu	37	chr5	52362978	52362978	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	attgctgatgtagctatagaAgcttcattcacaccagaaaa	15	11	7	8	0	2	3	2	1	0	2	2	3	2	3	1	0	3	4	1	0	6	6			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr5:52362978A>C	ENST00000296585.5	+	16	2117	c.1974A>C	c.(1972-1974)gaA>gaC	p.E658D		NM_002203.3	NP_002194.2	P17301	ITA2_HUMAN	integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor)	658					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell adhesion mediated by integrin (GO:0033627)|cell proliferation (GO:0008283)|cell-matrix adhesion (GO:0007160)|cell-substrate adhesion (GO:0031589)|cellular response to hormone stimulus (GO:0032870)|collagen-activated signaling pathway (GO:0038065)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|hepatocyte differentiation (GO:0070365)|hypotonic response (GO:0006971)|integrin-mediated signaling pathway (GO:0007229)|mammary gland development (GO:0030879)|mesodermal cell differentiation (GO:0048333)|organ morphogenesis (GO:0009887)|positive regulation of alkaline phosphatase activity (GO:0010694)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell projection organization (GO:0031346)|positive regulation of collagen binding (GO:0033343)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of DNA binding (GO:0043388)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of inflammatory response (GO:0050729)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of phagocytosis, engulfment (GO:0060100)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of smooth muscle cell migration (GO:0014911)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of translation (GO:0045727)|positive regulation of transmission of nerve impulse (GO:0051971)|response to amine (GO:0014075)|response to drug (GO:0042493)|response to hypoxia (GO:0001666)|response to L-ascorbic acid (GO:0033591)|response to muscle activity (GO:0014850)|response to organic cyclic compound (GO:0014070)|skin morphogenesis (GO:0043589)|substrate-dependent cell migration (GO:0006929)|tissue homeostasis (GO:0001894)|viral process (GO:0016032)	axon terminus (GO:0043679)|basal part of cell (GO:0045178)|cell outer membrane (GO:0009279)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|focal adhesion (GO:0005925)|integrin alpha2-beta1 complex (GO:0034666)|integrin complex (GO:0008305)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	collagen binding (GO:0005518)|collagen binding involved in cell-matrix adhesion (GO:0098639)|collagen receptor activity (GO:0038064)|metal ion binding (GO:0046872)|virus receptor activity (GO:0001618)			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(1)|lung(18)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	47		Lung NSC(810;3.11e-05)|Breast(144;0.014)|Prostate(461;0.0181)				TAGCTATAGAAGCTTCATTCA	0.353																																						ENST00000296585.5																			0				breast(3)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(1)|lung(18)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	47						c.(1972-1974)gaA>gaC		integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor)							99	94	96					5																	52362978		2202	4300	6502	SO:0001583	missense	3673				axon guidance|blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|organ morphogenesis	integrin complex	collagen binding|identical protein binding|receptor activity	g.chr5:52362978A>C		CCDS3957.1	5q11.2	2010-03-23			ENSG00000164171	ENSG00000164171		"CD molecules", "Integrins"	6137	protein-coding gene	gene with protein product		192974		CD49B			Standard	NM_002203		Approved	CD49b	uc003joy.3	P17301	OTTHUMG00000131165	ENST00000296585.5:c.1974A>C	5.37:g.52362978A>C	ENSP00000296585:p.Glu658Asp						p.E658D	NM_002203.3	NP_002194.2	P17301	ITA2_HUMAN			16	2117	+		Lung NSC(810;3.11e-05)|Breast(144;0.014)|Prostate(461;0.0181)	658					Q14595	Missense_Mutation	SNP	ENST00000296585.5	37	c.1974A>C	CCDS3957.1	.	.	.	.	.	.	.	.	.	.	A	6.820	0.520400	0.13005	.	.	ENSG00000164171	ENST00000296585	T	0.55930	0.49	4.79	0.999	0.19862	Integrin alpha-2 (1);	0.552726	0.17924	N	0.157394	T	0.24509	0.0594	N	0.08118	0	0.20196	N	0.999927	B;B	0.06786	0.001;0.001	B;B	0.10450	0.005;0.002	T	0.09840	-1.0656	10	0.37606	T	0.19	.	1.2703	0.02019	0.2987:0.2196:0.084:0.3977	.	658;658	E7ESP4;P17301	.;ITA2_HUMAN	D	658	ENSP00000296585:E658D	ENSP00000296585:E658D	E	+	3	2	ITGA2	52398735	0.038000	0.19896	0.923000	0.36655	0.997000	0.91878	-0.049000	0.11924	0.003000	0.14656	0.533000	0.62120	GAA		0.353	ITGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253857.2	NM_002203		3	38	0	0	0	6.4e-05	0	3	38					C	52362978	A	C	52362978	3	2	173	1	0	0	0	0	1	0	0	0	7875	69	3	5	2036	5	ITGA2	5	52362978	Missense_Mutation	SNP	A	TCGA-G9-6377-01A-11D-1961-08		52362978	128552282	15	8198											
MEP1A	4224	broad.mit.edu	37	chr6	46793078	46793078	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caatacaccctatgattatgAgtctttgatgcactaccagc	12	12	6	11	0	1	3	0	3	1	0	1	3	1	3	2	0	4	1	2	0	5	5			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr6:46793078A>C	ENST00000230588.4	+	8	635	c.626A>C	c.(625-627)gAg>gCg	p.E209A		NM_005588.2	NP_005579.2	Q16819	MEP1A_HUMAN	meprin A, alpha (PABA peptide hydrolase)	209	Metalloprotease.				digestion (GO:0007586)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|meprin A complex (GO:0017090)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42			Lung(136;0.192)			TATGATTATGAGTCTTTGATG	0.443																																						ENST00000230588.4																			0				NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42						c.(625-627)gAg>gCg		meprin A, alpha (PABA peptide hydrolase)							196	167	177					6																	46793078		2203	4300	6503	SO:0001583	missense	4224				digestion|proteolysis	extracellular space|integral to plasma membrane|soluble fraction	metalloendopeptidase activity|zinc ion binding	g.chr6:46793078A>C		CCDS4918.1	6p12-p11	2010-10-18			ENSG00000112818	ENSG00000112818	3.4.24.18		7015	protein-coding gene	gene with protein product		600388				7774936	Standard	NM_005588		Approved	PPHA	uc010jzh.1	Q16819	OTTHUMG00000014790	ENST00000230588.4:c.626A>C	6.37:g.46793078A>C	ENSP00000230588:p.Glu209Ala						p.E209A	NM_005588.2	NP_005579.2	Q16819	MEP1A_HUMAN	Lung(136;0.192)		8	635	+			209			Metalloprotease.		A2RRM4|B0AZP9|B2RCS2|Q8TDC9|Q9H1R1	Missense_Mutation	SNP	ENST00000230588.4	37	c.626A>C	CCDS4918.1	.	.	.	.	.	.	.	.	.	.	A	15.17	2.754909	0.49362	.	.	ENSG00000112818	ENST00000230588	T	0.62232	0.04	6.16	4.99	0.66335	Peptidase, metallopeptidase (1);Peptidase M12A, astacin (2);Metallopeptidase, catalytic domain (1);	0.043102	0.85682	D	0.000000	T	0.60379	0.2264	L	0.43152	1.355	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.74674	0.984;0.984	T	0.59495	-0.7444	10	0.24483	T	0.36	-36.9945	13.5978	0.62000	0.8704:0.1296:0.0:0.0	.	237;209	B7ZL91;Q16819	.;MEP1A_HUMAN	A	209	ENSP00000230588:E209A	ENSP00000230588:E209A	E	+	2	0	MEP1A	46901037	1.000000	0.71417	0.897000	0.35233	0.530000	0.34684	7.318000	0.79029	1.120000	0.41904	0.528000	0.53228	GAG		0.443	MEP1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040803.1	NM_005588		5	85	0	0	0	8.12818e-05	0	5	85					C	46793078	A	C	46793078	3	2	173	1	0	0	0	0	1	0	0	0	9475	304	11	5	656	5	MEP1A	6	46793078	Missense_Mutation	SNP	A	TCGA-G9-6377-01A-11D-1961-08		46793078	124321989	16	8199											
PHF10	55274	broad.mit.edu	37	chr6	170114863	170114863	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctggaactgtccggggatgaGagccactgggtaagaactga	11	7	15	8	1	0	3	0	2	0	2	1	6	1	5	2	4	3	1	2	4	3	1			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr6:170114863G>C	ENST00000339209.4	-	7	892	c.769C>G	c.(769-771)Ctc>Gtc	p.L257V	PHF10_ENST00000464779.1_5'Flank|PHF10_ENST00000366780.4_Missense_Mutation_p.L255V	NM_018288.3|NM_133325.2	NP_060758.2|NP_579866.2	Q8WUB8	PHF10_HUMAN	PHD finger protein 10	257	SAY.				nervous system development (GO:0007399)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	npBAF complex (GO:0071564)	zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(2)|liver(3)|lung(4)|prostate(2)|urinary_tract(1)	14		Breast(66;5.08e-05)|Ovarian(120;0.208)		OV - Ovarian serous cystadenocarcinoma(33;1.4e-21)|BRCA - Breast invasive adenocarcinoma(81;1.4e-07)|GBM - Glioblastoma multiforme(31;0.00176)		CCGGGGATGAGAGCCACTGGG	0.418																																						ENST00000339209.4																			0				endometrium(2)|large_intestine(2)|liver(3)|lung(4)|prostate(2)|urinary_tract(1)	14						c.(769-771)Ctc>Gtc		PHD finger protein 10							177	173	174					6																	170114863		2203	4300	6503	SO:0001583	missense	55274				nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	npBAF complex	zinc ion binding	g.chr6:170114863G>C	AF338735	CCDS5308.2, CCDS5309.2	6q27	2014-05-13			ENSG00000130024	ENSG00000130024		"Zinc fingers, PHD-type"	18250	protein-coding gene	gene with protein product		613069				11827455	Standard	NM_018288		Approved	FLJ10975, XAP135, BAF45a	uc011egy.2	Q8WUB8	OTTHUMG00000016058	ENST00000339209.4:c.769C>G	6.37:g.170114863G>C	ENSP00000341805:p.Leu257Val					PHF10_ENST00000366780.4_Missense_Mutation_p.L255V	p.L257V	NM_018288.3|NM_133325.2	NP_060758.2|NP_579866.2	Q8WUB8	PHF10_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;1.4e-21)|BRCA - Breast invasive adenocarcinoma(81;1.4e-07)|GBM - Glioblastoma multiforme(31;0.00176)	7	892	-		Breast(66;5.08e-05)|Ovarian(120;0.208)	257			SAY.		Q2YDA3|Q53HG8|Q9BXD2|Q9NV26	Missense_Mutation	SNP	ENST00000339209.4	37	c.769C>G	CCDS5308.2	.	.	.	.	.	.	.	.	.	.	G	16.45	3.127358	0.56721	.	.	ENSG00000130024	ENST00000366780;ENST00000339209	D;D	0.91295	-2.82;-2.78	5.62	5.62	0.85841	.	0.116963	0.56097	D	0.000021	D	0.87010	0.6071	L	0.43757	1.38	0.80722	D	1	P;P;P	0.50369	0.778;0.577;0.934	B;B;P	0.45099	0.262;0.281;0.469	D	0.87766	0.2602	10	0.52906	T	0.07	-16.1579	18.9992	0.92826	0.0:0.0:1.0:0.0	.	169;255;257	Q5T069;Q8WUB8-2;Q8WUB8	.;.;PHF10_HUMAN	V	255;257	ENSP00000355743:L255V;ENSP00000341805:L257V	ENSP00000341805:L257V	L	-	1	0	PHF10	169856788	1.000000	0.71417	0.992000	0.48379	0.999000	0.98932	5.999000	0.70665	2.795000	0.96236	0.655000	0.94253	CTC		0.418	PHF10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000346732.1	NM_018288		14	169	0	0	0	0.000308642	0	14	169					C	170114863	G	C	170114863	3	2	173	1	0	0	0	0	1	0	0	0	11821	942	33	5	751	5	PHF10	6	170114863	Missense_Mutation	SNP	G	TCGA-G9-6377-01A-11D-1961-08	123321785	170114863	1000204	17	8200											
DGKB	1607	broad.mit.edu	37	chr7	14378185	14378185	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggcatctgtgacggtggtccTtttgtcagacccttttttct	4	17	10	10	1	3	2	1	1	2	1	4	2	4	2	2	3	0	1	2	3	0	5			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr7:14378185T>C	ENST00000403951.2	-	23	2499	c.2080A>G	c.(2080-2082)Agg>Ggg	p.R694G	DGKB_ENST00000258767.5_Missense_Mutation_p.R694G|DGKB_ENST00000403963.1_5'UTR|DGKB_ENST00000399322.3_Missense_Mutation_p.R694G|DGKB_ENST00000407950.1_Missense_Mutation_p.R686G|DGKB_ENST00000444700.2_Missense_Mutation_p.R675G|DGKB_ENST00000406247.3_Missense_Mutation_p.R694G|DGKB_ENST00000402815.1_Missense_Mutation_p.R693G			Q9Y6T7	DGKB_HUMAN	diacylglycerol kinase, beta 90kDa	694					blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|diacylglycerol kinase activity (GO:0004143)|NAD+ kinase activity (GO:0003951)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(34)|ovary(4)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72						ACGGTGGTCCTTTTGTCAGAC	0.393																																						ENST00000403951.2																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(34)|ovary(4)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72						c.(2080-2082)Agg>Ggg		diacylglycerol kinase, beta 90kDa	Phosphatidylserine(DB00144)						191	176	180					7																	14378185		1849	4092	5941	SO:0001583	missense	1607				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	cytoplasm|plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity|protein binding	g.chr7:14378185T>C	AB018261	CCDS47547.1, CCDS47548.1	7p21.2	2013-01-10	2002-08-29		ENSG00000136267	ENSG00000136267	2.7.1.107	"EF-hand domain containing"	2850	protein-coding gene	gene with protein product		604070	"diacylglycerol kinase, beta (90kD)"	DAGK2		7689223	Standard	NM_004080		Approved	KIAA0718, DGK, DGK-BETA	uc003ssz.3	Q9Y6T7	OTTHUMG00000152477	ENST00000403951.2:c.2080A>G	7.37:g.14378185T>C	ENSP00000385780:p.Arg694Gly					DGKB_ENST00000258767.5_Missense_Mutation_p.R694G|DGKB_ENST00000444700.2_Missense_Mutation_p.R675G|DGKB_ENST00000402815.1_Missense_Mutation_p.R693G|DGKB_ENST00000407950.1_Missense_Mutation_p.R686G|DGKB_ENST00000399322.3_Missense_Mutation_p.R694G|DGKB_ENST00000406247.3_Missense_Mutation_p.R694G|DGKB_ENST00000403963.1_5'UTR	p.R694G			Q9Y6T7	DGKB_HUMAN			23	2499	-			694					A4D116|A4D117|A8MXU2|O75241|Q2M377|Q75MF9|Q75MU7|Q86UI5|Q86UM9|Q9UQ29	Missense_Mutation	SNP	ENST00000403951.2	37	c.2080A>G	CCDS47547.1	.	.	.	.	.	.	.	.	.	.	T	14.22	2.468955	0.43839	.	.	ENSG00000136267	ENST00000403951;ENST00000399322;ENST00000258767;ENST00000402815;ENST00000407950;ENST00000444700;ENST00000406247	T;T;T;T;T;T;T	0.79940	-1.23;-1.23;-1.23;-1.23;-1.23;-1.23;-1.32	5.5	5.5	0.81552	Diacylglycerol kinase, accessory domain (2);	0.167730	0.45606	D	0.000345	T	0.68063	0.2960	N	0.14661	0.345	0.47737	D	0.999501	B;B;B;B	0.09022	0.0;0.001;0.001;0.002	B;B;B;B	0.12156	0.002;0.003;0.003;0.007	T	0.63010	-0.6732	10	0.32370	T	0.25	.	15.6097	0.76707	0.0:0.0:0.0:1.0	.	693;675;694;694	B7ZL83;C9JTC0;Q9Y6T7-2;Q9Y6T7	.;.;.;DGKB_HUMAN	G	694;694;694;693;686;675;694	ENSP00000385780:R694G;ENSP00000382260:R694G;ENSP00000258767:R694G;ENSP00000384909:R693G;ENSP00000385031:R686G;ENSP00000388451:R675G;ENSP00000386066:R694G	ENSP00000258767:R694G	R	-	1	2	DGKB	14344710	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	4.160000	0.58164	2.079000	0.62486	0.528000	0.53228	AGG		0.393	DGKB-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000326356.2	NM_004080		4	178	0	0	0	0.00024832	0	4	178					C	14378185	T	C	14378185	3	2	173	1	0	0	0	0	1	0	0	0	4466	1608	56	4	365	4	DGKB	7	14378185	Missense_Mutation	SNP	T	TCGA-G9-6377-01A-11D-1961-08		14378185	144760478	18	8201											
POM121C	100101267	broad.mit.edu	37	chr7	75053866	75053867	+	Frame_Shift_Ins	INS	-	-	T																															gaagccttcttctctaagtcINStaggtcctcggcagtgatcg																										TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr7:75053866_75053867insT	ENST00000257665.5	-	9	1538_1539	c.1539_1540insA	c.(1537-1542)ctagacfs	p.D514fs	POM121C_ENST00000473168.1_5'UTR|POM121C_ENST00000453279.2_Frame_Shift_Ins_p.D272fs			A8CG34	P121C_HUMAN	POM121 transmembrane nucleoporin C	514	Pore side. {ECO:0000255}.				mRNA transport (GO:0051028)|protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|nuclear pore (GO:0005643)				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	14						TTCTCTAAGTCTAGGTCCTCGG	0.51																																						ENST00000453279.2																			0				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	14						c.(811-816)ctacttfs		POM121 transmembrane nucleoporin C																																				SO:0001589	frameshift_variant	100101267				mRNA transport|protein transport|transmembrane transport	endoplasmic reticulum membrane|nuclear membrane|nuclear pore	protein binding	g.chr7:75053866_75053867insT		CCDS47617.1	7q11.23	2012-03-13	2012-03-13		ENSG00000135213	ENSG00000272391			34005	protein-coding gene	gene with protein product		615754	"POM121 membrane glycoprotein C"			17900573	Standard	NM_001099415		Approved		uc003udk.4	A8CG34	OTTHUMG00000156238	ENST00000257665.5:c.1540dupA	7.37:g.75053867_75053867dupT	ENSP00000257665:p.Asp514fs					POM121C_ENST00000257665.5_Frame_Shift_Ins_p.L514fs|POM121C_ENST00000473168.1_5'UTR	p.L272fs	NM_001099415.1	NP_001092885.1	A8CG34	P121C_HUMAN			11	1677_1678	-			514			Pore side (Potential).|Required for targeting to the nucleus and nuclear pore complex.		O75115|Q9Y2N3|Q9Y4S7	Frame_Shift_Ins	INS	ENST00000257665.5	37	c.813_814insA																																																																																					0.51	POM121C-003	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000343919.2	NM_001099415		102	194						102	194	---	---	---	---	T	75053867	-	T	75053866	7	5	173	1	0	1	1	0	0	0	0	0	12240	913	32	0	2169	0	POM121C	7	75053866	Frame_Shift_Ins	INS	-	TCGA-G9-6377-01A-11D-1961-08	60675681	75053866	84084797	19	8202											
ADCY8	114	broad.mit.edu	37	chr8	131848633	131848633	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agcactgccagcttcaggacGgagttcagccggaggaaaac	12	5	13	11	2	2	0	2	0	0	0	2	4	2	4	2	4	5	3	2	4	2	2			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr8:131848633G>A	ENST00000286355.5	-	12	4657	c.2565C>T	c.(2563-2565)tcC>tcT	p.S855S	ADCY8_ENST00000377928.3_Silent_p.S724S	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	855					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|learning or memory (GO:0007611)|long-term memory (GO:0007616)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			GCTTCAGGACGGAGTTCAGCC	0.537										HNSCC(32;0.087)																												ENST00000286355.5																			0				NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						c.(2563-2565)tcC>tcT		adenylate cyclase 8 (brain)							148	116	127					8																	131848633		2203	4300	6503	SO:0001819	synonymous_variant	114				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding	g.chr8:131848633G>A	Z35309	CCDS6363.1	8q24	2013-02-04			ENSG00000155897	ENSG00000155897	4.6.1.1	"Adenylate cyclases"	239	protein-coding gene	gene with protein product		103070		ADCY3		8076676	Standard	NM_001115		Approved	HBAC1, AC8	uc003ytd.4	P40145	OTTHUMG00000164756	ENST00000286355.5:c.2565C>T	8.37:g.131848633G>A		HNSCC(32;0.087)				ADCY8_ENST00000377928.3_Silent_p.S724S	p.S855S	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000538)		12	4657	-	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		855						Silent	SNP	ENST00000286355.5	37	c.2565C>T	CCDS6363.1																																																																																				0.537	ADCY8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380080.1			40	57	0	0	0	0.000270559	0	40	57					A	131848633	G	A	131848633	2	1	173	1	0	0	0	0	0	0	0	1	300	1103	39	2		2	ADCY8	8	131848633	Silent	SNP	G	TCGA-G9-6377-01A-11D-1961-08		131848633	14515389	20	8203											
TG	7038	broad.mit.edu	37	chr8	133935616	133935616	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcagaggaacgaagcaggccTgcaatgtgaccagaatggcc	13	5	13	10	1	1	3	1	1	0	2	1	5	1	4	3	3	3	2	3	3	4	0			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr8:133935616T>A	ENST00000220616.4	+	22	4602	c.4562T>A	c.(4561-4563)cTg>cAg	p.L1521Q	TG_ENST00000542445.1_5'UTR|TG_ENST00000377869.1_Intron	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	1521	Thyroglobulin type-1 11. {ECO:0000255|PROSITE-ProRule:PRU00500}.				hormone biosynthetic process (GO:0042446)|iodide transport (GO:0015705)|regulation of myelination (GO:0031641)|signal transduction (GO:0007165)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular region (GO:0005576)|extracellular space (GO:0005615)				NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		GAAGCAGGCCTGCAATGTGAC	0.577																																						ENST00000220616.4																			0				NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168						c.(4561-4563)cTg>cAg		thyroglobulin							92	84	87					8																	133935616		2203	4300	6503	SO:0001583	missense	7038				hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity	g.chr8:133935616T>A	AU141420	CCDS34944.1	8q24	2012-10-02			ENSG00000042832	ENSG00000042832			11764	protein-coding gene	gene with protein product		188450					Standard	NM_003235		Approved	TGN, AITD3	uc003ytw.3	P01266	OTTHUMG00000164649	ENST00000220616.4:c.4562T>A	8.37:g.133935616T>A	ENSP00000220616:p.Leu1521Gln					TG_ENST00000542445.1_5'UTR|TG_ENST00000377869.1_Intron	p.L1521Q	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)	22	4602	+	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	1521			Thyroglobulin type-1 11.		O15274|O43899|Q15593|Q15948|Q9NYR1|Q9NYR2|Q9UMZ0|Q9UNY3	Missense_Mutation	SNP	ENST00000220616.4	37	c.4562T>A	CCDS34944.1	.	.	.	.	.	.	.	.	.	.	T	17.23	3.336202	0.60963	.	.	ENSG00000042832	ENST00000543313;ENST00000220616	D	0.97553	-4.43	4.84	4.84	0.62591	Thyroglobulin type-1 (4);	0.000000	0.43919	D	0.000510	D	0.97914	0.9314	M	0.76002	2.32	0.80722	D	1	D	0.89917	1.0	D	0.76575	0.988	D	0.98397	1.0566	10	0.87932	D	0	.	10.797	0.46466	0.0:0.0:0.0:1.0	.	1521	P01266	THYG_HUMAN	Q	327;1521	ENSP00000220616:L1521Q	ENSP00000220616:L1521Q	L	+	2	0	TG	134004798	1.000000	0.71417	1.000000	0.80357	0.699000	0.40488	4.502000	0.60400	1.822000	0.53115	0.454000	0.30748	CTG		0.577	TG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379606.1	NM_003235		7	94	0	0	0	0.000157383	0	7	94					A	133935616	T	A	133935616	3	1	173	1	0	0	0	0	1	0	0	0	15810	1580	55	5	4648	5	TG	8	133935616	Missense_Mutation	SNP	T	TCGA-G9-6377-01A-11D-1961-08	2086983	133935616	12428406	21	8204											
TRPM6	140803	broad.mit.edu	37	chr9	77377204	77377204	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgctaaacacaccagtttcAtcaccttctgaaaatgccca	14	10	4	13	0	3	1	2	1	1	0	3	1	3	1	3	0	3	2	3	0	4	3			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr9:77377204A>C	ENST00000360774.1	-	26	4620	c.4383T>G	c.(4381-4383)gaT>gaG	p.D1461E	TRPM6_ENST00000361255.3_Missense_Mutation_p.D1456E|TRPM6_ENST00000449912.2_Missense_Mutation_p.D1456E|TRPM6_ENST00000376871.3_Intron|TRPM6_ENST00000376864.4_Missense_Mutation_p.D1461E|TRPM6_ENST00000451710.3_Missense_Mutation_p.D1461E|TRPM6_ENST00000376872.3_Intron	NM_017662.4	NP_060132.3	Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	1461					calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|response to toxic substance (GO:0009636)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium channel activity (GO:0005262)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						CACCAGTTTCATCACCTTCTG	0.493																																						ENST00000451710.3																			0				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						c.(4381-4383)gaT>gaG		transient receptor potential cation channel, subfamily M, member 6							119	118	118					9																	77377204		2203	4300	6503	SO:0001583	missense	140803				response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr9:77377204A>C	AK026281	CCDS6647.1, CCDS55318.1, CCDS55319.1	9q21.13	2011-12-14	2003-12-02		ENSG00000119121	ENSG00000119121		"Voltage-gated ion channels / Transient receptor potential cation channels"	17995	protein-coding gene	gene with protein product		607009	"hypomagnesemia, secondary hypocalcemia"	HOMG, HSH		10021370, 12032570, 16382100	Standard	NM_017662		Approved	CHAK2, FLJ22628	uc004ajk.1	Q9BX84	OTTHUMG00000020027	ENST00000360774.1:c.4383T>G	9.37:g.77377204A>C	ENSP00000354006:p.Asp1461Glu					TRPM6_ENST00000376864.4_Missense_Mutation_p.D1461E|TRPM6_ENST00000360774.1_Missense_Mutation_p.D1461E|TRPM6_ENST00000449912.2_Missense_Mutation_p.D1456E|TRPM6_ENST00000376872.3_Intron|TRPM6_ENST00000361255.3_Missense_Mutation_p.D1456E|TRPM6_ENST00000376871.3_Intron	p.D1461E			Q9BX84	TRPM6_HUMAN			26	4620	-			1461					Q6VPR8|Q6VPR9|Q6VPS0|Q6VPS1|Q6VPS2	Missense_Mutation	SNP	ENST00000360774.1	37	c.4383T>G	CCDS6647.1	.	.	.	.	.	.	.	.	.	.	A	10.85	1.467388	0.26335	.	.	ENSG00000119121	ENST00000360774;ENST00000451710;ENST00000449912;ENST00000361255;ENST00000376864	T;T;T;T;T	0.58060	0.46;0.45;0.46;0.46;0.36	5.81	4.67	0.58626	.	0.526636	0.20846	N	0.084606	T	0.27524	0.0676	N	0.08118	0	0.36129	D	0.845976	B;B;B	0.28350	0.067;0.208;0.11	B;B;B	0.27170	0.028;0.077;0.063	T	0.19877	-1.0292	10	0.21540	T	0.41	.	5.596	0.17327	0.6716:0.0:0.0715:0.2569	.	1461;1456;1456	Q9BX84;Q9BX84-3;Q9BX84-2	TRPM6_HUMAN;.;.	E	1461;1461;1456;1456;1461	ENSP00000354006:D1461E;ENSP00000407341:D1461E;ENSP00000396672:D1456E;ENSP00000354962:D1456E;ENSP00000366060:D1461E	ENSP00000354006:D1461E	D	-	3	2	TRPM6	76567024	1.000000	0.71417	0.991000	0.47740	0.129000	0.20672	1.197000	0.32211	1.034000	0.39945	0.533000	0.62120	GAT		0.493	TRPM6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000052693.1	NM_017662		44	98	0	0	0	0.000437636	0	44	98					C	77377204	A	C	77377204	3	2	173	1	0	0	0	0	1	0	0	0	16587	214	8	5	1741	5	TRPM6	9	77377204	Missense_Mutation	SNP	A	TCGA-G9-6377-01A-11D-1961-08		77377204	63836227	22	8205											
TLL2	7093	broad.mit.edu	37	chr10	98138802	98138802	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtagctcccgaaggtgttgaCgcactcatgctgacacccgc	8	8	11	14	3	1	2	1	2	0	0	2	3	2	2	2	1	2	5	2	1	2	2			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr10:98138802C>T	ENST00000357947.3	-	17	2467	c.2242G>A	c.(2242-2244)Gtc>Atc	p.V748I		NM_012465.3	NP_036597.1	Q9Y6L7	TLL2_HUMAN	tolloid-like 2	748	EGF-like 2; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				cell differentiation (GO:0030154)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|multicellular organismal development (GO:0007275)	extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	58		Colorectal(252;0.0846)		Epithelial(162;1.51e-07)|all cancers(201;7.59e-06)		AAGGTGTTGACGCACTCATGC	0.552																																						ENST00000357947.3																			0				NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	58						c.(2242-2244)Gtc>Atc		tolloid-like 2							194	155	168					10																	98138802		2203	4300	6503	SO:0001583	missense	7093				cell differentiation|multicellular organismal development|proteolysis	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding	g.chr10:98138802C>T	AF059516	CCDS7449.1	10q23-q24	2008-07-29			ENSG00000095587	ENSG00000095587			11844	protein-coding gene	gene with protein product		606743				10516436	Standard	NM_012465		Approved		uc001kml.2	Q9Y6L7	OTTHUMG00000018833	ENST00000357947.3:c.2242G>A	10.37:g.98138802C>T	ENSP00000350630:p.Val748Ile						p.V748I	NM_012465.3	NP_036597.1	Q9Y6L7	TLL2_HUMAN		Epithelial(162;1.51e-07)|all cancers(201;7.59e-06)	17	2467	-		Colorectal(252;0.0846)	748			EGF-like 2; calcium-binding (Potential).		A6NDK0|Q2M1H1|Q6PJN5|Q9UQ00	Missense_Mutation	SNP	ENST00000357947.3	37	c.2242G>A	CCDS7449.1	.	.	.	.	.	.	.	.	.	.	C	7.503	0.653162	0.14580	.	.	ENSG00000095587	ENST00000357947	D	0.95656	-3.77	4.78	1.95	0.26073	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.782162	0.10700	N	0.644165	D	0.86920	0.6049	N	0.10618	0.005	0.27108	N	0.962445	B	0.06786	0.001	B	0.09377	0.004	T	0.76266	-0.3022	10	0.18276	T	0.48	.	7.5715	0.27911	0.0:0.6583:0.0:0.3417	.	748	Q9Y6L7	TLL2_HUMAN	I	748	ENSP00000350630:V748I	ENSP00000350630:V748I	V	-	1	0	TLL2	98128792	0.001000	0.12720	0.996000	0.52242	0.125000	0.20455	-0.181000	0.09740	0.741000	0.32674	0.561000	0.74099	GTC		0.552	TLL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049608.1			15	134	0	0	0	0.000308642	0	15	134					T	98138802	C	T	98138802	3	4	173	1	0	0	0	0	1	0	0	0	15943	536	19	1	825	1	TLL2	10	98138802	Missense_Mutation	SNP	C	TCGA-G9-6377-01A-11D-1961-08		98138802	37395945	23	8206											
TCERG1L	256536	broad.mit.edu	37	chr10	132915191	132915191	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggcttgggactcccgcagccTtcggtccttcaggaacacaa	8	8	11	14	2	1	0	1	0	0	0	4	2	3	2	3	4	2	2	3	4	2	3			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr10:132915191T>A	ENST00000368642.4	-	9	1351	c.1266A>T	c.(1264-1266)gaA>gaT	p.E422D		NM_174937.3	NP_777597.2	Q5VWI1	TCRGL_HUMAN	transcription elongation regulator 1-like	422										cervix(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	31		all_cancers(35;1.22e-10)|all_epithelial(44;2.65e-09)|Lung NSC(174;0.00188)|all_lung(145;0.00307)|Melanoma(40;0.0179)|all_neural(114;0.0424)|Breast(234;0.0743)|Colorectal(57;0.09)		all cancers(32;0.000899)|OV - Ovarian serous cystadenocarcinoma(35;0.0021)|Epithelial(32;0.00276)		TCCCGCAGCCTTCGGTCCTTC	0.567																																						ENST00000368642.4																			0				cervix(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	31						c.(1264-1266)gaA>gaT		transcription elongation regulator 1-like							73	60	65					10																	132915191		2203	4299	6502	SO:0001583	missense	256536							g.chr10:132915191T>A	AK096269	CCDS7662.2	10q26.3	2006-04-12			ENSG00000176769	ENSG00000176769			23533	protein-coding gene	gene with protein product							Standard	NM_174937		Approved	FLJ38950	uc001lkp.3	Q5VWI1	OTTHUMG00000019276	ENST00000368642.4:c.1266A>T	10.37:g.132915191T>A	ENSP00000357631:p.Glu422Asp						p.E422D	NM_174937.3	NP_777597.2	Q5VWI1	TCRGL_HUMAN		all cancers(32;0.000899)|OV - Ovarian serous cystadenocarcinoma(35;0.0021)|Epithelial(32;0.00276)	9	1351	-		all_cancers(35;1.22e-10)|all_epithelial(44;2.65e-09)|Lung NSC(174;0.00188)|all_lung(145;0.00307)|Melanoma(40;0.0179)|all_neural(114;0.0424)|Breast(234;0.0743)|Colorectal(57;0.09)	422					Q5VWI2|Q86XM8	Missense_Mutation	SNP	ENST00000368642.4	37	c.1266A>T	CCDS7662.2	.	.	.	.	.	.	.	.	.	.	T	11.21	1.570713	0.28003	.	.	ENSG00000176769	ENST00000368642	T	0.24151	1.87	4.18	1.6	0.23607	.	0.076480	0.51477	D	0.000090	T	0.14570	0.0352	L	0.32530	0.975	0.37551	D	0.918709	P	0.43750	0.816	B	0.35813	0.211	T	0.12502	-1.0545	10	0.33141	T	0.24	.	7.8956	0.29704	0.0:0.0:0.42:0.58	.	422	Q5VWI1	TCRGL_HUMAN	D	422	ENSP00000357631:E422D	ENSP00000357631:E422D	E	-	3	2	TCERG1L	132805181	1.000000	0.71417	0.237000	0.24090	0.017000	0.09413	2.064000	0.41432	0.123000	0.18342	0.528000	0.53228	GAA		0.567	TCERG1L-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091619.2	NM_174937		6	18	0	0	0	3.59834e-05	0	6	18					A	132915191	T	A	132915191	3	1	173	1	0	0	0	0	1	0	0	0	15683	1606	56	5	510	5	TCERG1L	10	132915191	Missense_Mutation	SNP	T	TCGA-G9-6377-01A-11D-1961-08	34776389	132915191	2619556	24	8207											
AMBRA1	55626	broad.mit.edu	37	chr11	46569829	46569829	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttcatccaccgggttttatcTtctaccagctcctgcagaag	8	13	7	13	1	3	1	1	0	2	1	5	1	5	1	4	1	3	3	4	1	3	5	rs17854361		TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr11:46569829T>A	ENST00000458649.2	-	2	520	c.102A>T	c.(100-102)gaA>gaT	p.E34D	AMBRA1_ENST00000533727.1_Missense_Mutation_p.E34D|AMBRA1_ENST00000314845.3_Missense_Mutation_p.E34D|AMBRA1_ENST00000528950.1_Missense_Mutation_p.E34D|AMBRA1_ENST00000298834.3_Missense_Mutation_p.E34D|AMBRA1_ENST00000534300.1_Missense_Mutation_p.E34D|AMBRA1_ENST00000426438.1_Missense_Mutation_p.E34D			Q9C0C7	AMRA1_HUMAN	autophagy/beclin-1 regulator 1	34					autophagy (GO:0006914)|cell differentiation (GO:0030154)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron apoptotic process (GO:0043524)|neural tube development (GO:0021915)	axoneme (GO:0005930)|cytoplasm (GO:0005737)|phagocytic vesicle (GO:0045335)				NS(1)|breast(3)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	39				GBM - Glioblastoma multiforme(35;0.0435)|Lung(87;0.182)		GGGTTTTATCTTCTACCAGCT	0.512																																						ENST00000458649.2																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	39						c.(100-102)gaA>gaT		autophagy/beclin-1 regulator 1							194	204	201					11																	46569829		2201	4299	6500	SO:0001583	missense	55626				autophagy|cell differentiation|nervous system development	autophagic vacuole|cytoplasmic vesicle		g.chr11:46569829T>A	AB051523	CCDS31475.1, CCDS58132.1, CCDS73281.1	11p11.2	2013-01-09			ENSG00000110497	ENSG00000110497		"WD repeat domain containing", "DDB1 and CUL4 associated factors"	25990	protein-coding gene	gene with protein product	"WD repeat domain 94", "DDB1 and CUL4 associated factor 3"	611359				17622796, 17603510, 17589504	Standard	NM_001267782		Approved	FLJ20294, KIAA1736, WDR94, DCAF3	uc001ncv.3	Q9C0C7	OTTHUMG00000166500	ENST00000458649.2:c.102A>T	11.37:g.46569829T>A	ENSP00000415327:p.Glu34Asp					AMBRA1_ENST00000426438.1_Missense_Mutation_p.E34D|AMBRA1_ENST00000534300.1_Missense_Mutation_p.E34D|AMBRA1_ENST00000533727.1_Missense_Mutation_p.E34D|AMBRA1_ENST00000528950.1_Missense_Mutation_p.E34D|AMBRA1_ENST00000298834.3_Missense_Mutation_p.E34D|AMBRA1_ENST00000314845.3_Missense_Mutation_p.E34D	p.E34D			Q9C0C7	AMRA1_HUMAN		GBM - Glioblastoma multiforme(35;0.0435)|Lung(87;0.182)	2	520	-			34					A6XN33|D3DQP8|G3V193|Q86XD6|Q9H8Z0|Q9NXE7	Missense_Mutation	SNP	ENST00000458649.2	37	c.102A>T		.	.	.	.	.	.	.	.	.	.	T	18.34	3.601818	0.66445	.	.	ENSG00000110497	ENST00000314845;ENST00000533727;ENST00000534300;ENST00000426438;ENST00000298834;ENST00000314823;ENST00000458649;ENST00000528950	T;T;T;T;T;T;T	0.71341	-0.4;-0.56;-0.29;-0.42;-0.29;-0.4;-0.42	6.08	3.4	0.38934	.	0.000000	0.85682	D	0.000000	T	0.70369	0.3216	N	0.25957	0.775	0.47862	D	0.99953	D;D;D;D;D;D	0.67145	0.994;0.996;0.996;0.996;0.996;0.996	D;D;D;D;D;D	0.76071	0.97;0.987;0.987;0.987;0.987;0.987	T	0.68473	-0.5399	10	0.46703	T	0.11	.	6.5834	0.22607	0.0:0.4362:0.0:0.5638	.	34;34;34;34;34;34	Q9C0C7;Q9C0C7-3;Q9C0C7-2;G3V193;Q9C0C7-5;Q9C0C7-4	AMRA1_HUMAN;.;.;.;.;.	D	34	ENSP00000318313:E34D;ENSP00000433372:E34D;ENSP00000431926:E34D;ENSP00000410899:E34D;ENSP00000298834:E34D;ENSP00000415327:E34D;ENSP00000433945:E34D	ENSP00000298834:E34D	E	-	3	2	AMBRA1	46526405	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.775000	0.38584	0.917000	0.36895	0.482000	0.46254	GAA		0.512	AMBRA1-005	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000390103.1	NM_017749		15	427	0	0	0	0.000308642	0	15	427					A	46569829	T	A	46569829	3	1	173	1	0	0	0	0	1	0	0	0	565	1606	56	5	3596	5	AMBRA1	11	46569829	Missense_Mutation	SNP	T	TCGA-G9-6377-01A-11D-1961-08		46569829	88436687	25	8208											
OR5R1	219479	broad.mit.edu	37	chr11	56185184	56185184	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	aggtcatcacaatagaaatgGttaattaagtttgggccaca	15	11	9	6	0	2	1	2	0	0	1	2	1	2	1	1	3	0	2	1	3	5	4			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr11:56185184G>C	ENST00000312253.1	-	1	524	c.525C>G	c.(523-525)aaC>aaG	p.N175K		NM_001004744.1	NP_001004744.1	Q8NH85	OR5R1_HUMAN	olfactory receptor, family 5, subfamily R, member 1	175						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(17)|ovary(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)	37	Esophageal squamous(21;0.00448)					AATAGAAATGGTTAATTAAGT	0.433																																						ENST00000312253.1																			0				NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(17)|ovary(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)	37						c.(523-525)aaC>aaG		olfactory receptor, family 5, subfamily R, member 1							105	99	101					11																	56185184		2201	4296	6497	SO:0001583	missense	219479				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56185184G>C	AB065504	CCDS31530.1	11q11	2012-08-09		2004-03-10	ENSG00000174942	ENSG00000174942		"GPCR / Class A : Olfactory receptors"	14841	protein-coding gene	gene with protein product				OR5R1P			Standard	NM_001004744		Approved		uc010rji.2	Q8NH85	OTTHUMG00000154219	ENST00000312253.1:c.525C>G	11.37:g.56185184G>C	ENSP00000308595:p.Asn175Lys						p.N175K	NM_001004744.1	NP_001004744.1	Q8NH85	OR5R1_HUMAN			1	524	-	Esophageal squamous(21;0.00448)		175						Missense_Mutation	SNP	ENST00000312253.1	37	c.525C>G	CCDS31530.1	.	.	.	.	.	.	.	.	.	.	G	11.77	1.739153	0.30774	.	.	ENSG00000174942	ENST00000312253	T	0.00115	8.71	5.91	-6.89	0.01660	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00356	0.0011	M	0.76002	2.32	0.18873	N	0.999985	D	0.89917	1.0	D	0.77004	0.989	T	0.03453	-1.1035	9	0.54805	T	0.06	-17.04	11.3071	0.49342	0.576:0.0:0.3414:0.0827	.	175	Q8NH85	OR5R1_HUMAN	K	175	ENSP00000308595:N175K	ENSP00000308595:N175K	N	-	3	2	OR5R1	55941760	0.006000	0.16342	0.543000	0.28128	0.070000	0.16714	-0.529000	0.06186	-1.005000	0.03417	-0.986000	0.02555	AAC		0.433	OR5R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334444.1	NM_001004744		20	98	0	0	0	0.000295444	0	20	98					C	56185184	G	C	56185184	3	2	173	1	0	0	0	0	1	0	0	0	11180	1252	44	5	451	5	OR5R1	11	56185184	Missense_Mutation	SNP	G	TCGA-G9-6377-01A-11D-1961-08	9615355	56185184	78821332	26	8209											
ESPL1	9700	broad.mit.edu	37	chr12	53666575	53666575	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccgaggcctgtgccatctcTgagccgctctgtcagcacct	5	9	11	16	2	3	1	1	1	2	0	4	2	3	1	5	1	3	2	5	1	0	0			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr12:53666575T>G	ENST00000257934.4	+	6	1531	c.1440T>G	c.(1438-1440)tcT>tcG	p.S480S	ESPL1_ENST00000552462.1_Silent_p.S480S	NM_012291.4	NP_036423.4	Q14674	ESPL1_HUMAN	extra spindle pole bodies homolog 1 (S. cerevisiae)	480					apoptotic process (GO:0006915)|cytokinesis (GO:0000910)|establishment of mitotic spindle localization (GO:0040001)|homologous chromosome segregation (GO:0045143)|meiotic spindle organization (GO:0000212)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid segregation (GO:0000070)|negative regulation of sister chromatid cohesion (GO:0045875)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)	centrosome (GO:0005813)|cytosol (GO:0005829)|nucleus (GO:0005634)	catalytic activity (GO:0003824)|cysteine-type peptidase activity (GO:0008234)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(10)|large_intestine(12)|lung(21)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(8)	70						GTGCCATCTCTGAGCCGCTCT	0.522																																					Colon(53;1069 1201 2587 5382)	ENST00000257934.4																			0				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(10)|large_intestine(12)|lung(21)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(8)	70						c.(1438-1440)tcT>tcG		extra spindle pole bodies homolog 1 (S. cerevisiae)							168	160	163					12																	53666575		2203	4300	6503	SO:0001819	synonymous_variant	9700				apoptosis|cytokinesis|establishment of mitotic spindle localization|mitotic sister chromatid segregation|negative regulation of sister chromatid cohesion|positive regulation of mitotic metaphase/anaphase transition|proteolysis	centrosome|nucleus	cysteine-type peptidase activity|protein binding	g.chr12:53666575T>G	D79987	CCDS8852.1	12q13.13	2014-08-04	2013-05-03		ENSG00000135476	ENSG00000135476	3.4.22.49		16856	protein-coding gene	gene with protein product	"separin", "separase", "separin, cysteine protease"	604143	"extra spindle poles like 1 (S. cerevisiae)"			8724849, 16258266	Standard	NM_012291		Approved	KIAA0165, ESP1, SEPA	uc001sck.2	Q14674	OTTHUMG00000169674	ENST00000257934.4:c.1440T>G	12.37:g.53666575T>G						ESPL1_ENST00000552462.1_Silent_p.S480S	p.S480S	NM_012291.4	NP_036423.4	Q14674	ESPL1_HUMAN			6	1531	+			480						Silent	SNP	ENST00000257934.4	37	c.1440T>G	CCDS8852.1																																																																																				0.522	ESPL1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406899.2	NM_012291		22	223	0	0	0	0.000295444	0	22	223					G	53666575	T	G	53666575	2	3	173	1	0	0	0	0	0	0	0	1	5253	1567	55	5		5	ESPL1	12	53666575	Silent	SNP	T	TCGA-G9-6377-01A-11D-1961-08		53666575	80185320	27	8210											
LRP1	4035	broad.mit.edu	37	chr12	57574174	57574174	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agctccgggaaccataccatCaaccgctgcaacctggatgg	11	6	10	14	2	1	0	1	0	0	0	2	2	2	2	5	3	6	3	5	3	4	1			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr12:57574174C>T	ENST00000243077.3	+	32	5764	c.5298C>T	c.(5296-5298)atC>atT	p.I1766I		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	1766					aging (GO:0007568)|aorta morphogenesis (GO:0035909)|apoptotic cell clearance (GO:0043277)|beta-amyloid clearance (GO:0097242)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of platelet-derived growth factor receptor-beta signaling pathway (GO:2000587)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of Wnt signaling pathway (GO:0030178)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of lipid transport (GO:0032370)|positive regulation of protein transport (GO:0051222)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|receptor-mediated endocytosis (GO:0006898)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cholesterol transport (GO:0032374)|regulation of phospholipase A2 activity (GO:0032429)|retinoid metabolic process (GO:0001523)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|lipoprotein particle receptor binding (GO:0070325)|lipoprotein transporter activity (GO:0042954)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|receptor activity (GO:0004872)			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	ACCATACCATCAACCGCTGCA	0.617																																						ENST00000243077.3																			0				NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184						c.(5296-5298)atC>atT		low density lipoprotein receptor-related protein 1	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)						127	138	134					12																	57574174		2203	4300	6503	SO:0001819	synonymous_variant	4035				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity	g.chr12:57574174C>T	X13916	CCDS8932.1	12q13.3	2013-05-28	2010-01-26		ENSG00000123384	ENSG00000123384		"CD molecules", "Low density lipoprotein receptors"	6692	protein-coding gene	gene with protein product		107770	"alpha-2-macroglobulin receptor"	APR, A2MR		2548950	Standard	NM_002332		Approved	LRP, CD91, LRP1A, APOER	uc001snd.3	Q07954	OTTHUMG00000044412	ENST00000243077.3:c.5298C>T	12.37:g.57574174C>T							p.I1766I	NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.0103)	32	5764	+			1766					Q2PP12|Q86SW0|Q8IVG8	Silent	SNP	ENST00000243077.3	37	c.5298C>T	CCDS8932.1																																																																																				0.617	LRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412772.2	NM_002332		25	224	0	0	0	0.00106085	0	25	224					T	57574174	C	T	57574174	2	4	173	1	0	0	0	0	0	0	0	1	8951	816	29	3		3	LRP1	12	57574174	Silent	SNP	C	TCGA-G9-6377-01A-11D-1961-08	3907599	57574174	76277721	28	8211											
SEMA6D	80031	broad.mit.edu	37	chr15	48054506	48054506	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	acaataaaatatgattccaaAtggataaaaggtacctttga	19	11	6	5	0	0	2	0	2	0	0	1	3	1	3	2	2	1	1	2	2	8	6			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr15:48054506A>G	ENST00000316364.5	+	8	1087	c.648A>G	c.(646-648)aaA>aaG	p.K216K	SEMA6D_ENST00000536845.2_Silent_p.K216K|SEMA6D_ENST00000558014.1_Silent_p.K216K|SEMA6D_ENST00000389425.3_Silent_p.K216K|SEMA6D_ENST00000537942.1_Silent_p.K216K|SEMA6D_ENST00000389432.2_Silent_p.K216K|SEMA6D_ENST00000558816.1_Silent_p.K216K|SEMA6D_ENST00000389433.2_Silent_p.K216K|SEMA6D_ENST00000355997.3_Silent_p.K216K|SEMA6D_ENST00000354744.4_Silent_p.K216K|SEMA6D_ENST00000358066.4_Silent_p.K216K|SEMA6D_ENST00000389428.3_Silent_p.K216K	NM_153618.1	NP_705871.1	Q8NFY4	SEM6D_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D	216	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|negative regulation of smooth muscle cell migration (GO:0014912)|positive regulation of smooth muscle cell migration (GO:0014911)|ventricular system development (GO:0021591)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			biliary_tract(1)|breast(4)|endometrium(4)|kidney(5)|large_intestine(10)|lung(42)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	77		all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18)		all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06)		ATGATTCCAAATGGATAAAAG	0.507																																						ENST00000316364.5																			0				biliary_tract(1)|breast(4)|endometrium(4)|kidney(5)|large_intestine(10)|lung(42)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	77						c.(646-648)aaA>aaG		sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D							109	97	101					15																	48054506		2198	4297	6495	SO:0001819	synonymous_variant	80031				axon guidance	cytoplasm|integral to membrane|plasma membrane	receptor activity	g.chr15:48054506A>G	AF389430	CCDS32224.1, CCDS32225.1, CCDS32226.1, CCDS32227.1, CCDS32228.1, CCDS32229.1	15q21.1	2006-09-18				ENSG00000137872		"Semaphorins"	16770	protein-coding gene	gene with protein product		609295				12110693, 14977921	Standard	NM_020858		Approved	KIAA1479, FLJ11598	uc001zvy.3	Q8NFY4		ENST00000316364.5:c.648A>G	15.37:g.48054506A>G						SEMA6D_ENST00000558014.1_Silent_p.K216K|SEMA6D_ENST00000558816.1_Silent_p.K216K|SEMA6D_ENST00000389425.3_Silent_p.K216K|SEMA6D_ENST00000354744.4_Silent_p.K216K|SEMA6D_ENST00000355997.3_Silent_p.K216K|SEMA6D_ENST00000358066.4_Silent_p.K216K|SEMA6D_ENST00000389433.2_Silent_p.K216K|SEMA6D_ENST00000389428.3_Silent_p.K216K|SEMA6D_ENST00000537942.1_Silent_p.K216K|SEMA6D_ENST00000389432.2_Silent_p.K216K|SEMA6D_ENST00000536845.2_Silent_p.K216K	p.K216K	NM_153618.1	NP_705871.1	Q8NFY4	SEM6D_HUMAN		all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06)	8	1087	+		all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18)	216			Sema.		A6NF10|A6NM95|A6NNK1|A7E2A0|Q8NFY3|Q8NFY5|Q8NFY6|Q8NFY7|Q9P249	Silent	SNP	ENST00000316364.5	37	c.648A>G	CCDS32225.1																																																																																				0.507	SEMA6D-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416868.1	NM_024966		3	79	0	0	0	6.4e-05	0	3	79					G	48054506	A	G	48054506	2	3	173	1	0	0	0	0	0	0	0	1	14042	98	4	4		4	SEMA6D	15	48054506	Silent	SNP	A	TCGA-G9-6377-01A-11D-1961-08		48054506	54476886	29	8212											
NOD2	64127	broad.mit.edu	37	chr16	50745558	50745558	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcacaggtcagccctgatgAcatttctcttggcttcctgg	7	12	10	12	0	2	2	1	2	1	0	4	2	3	2	2	3	2	2	2	3	0	3			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr16:50745558A>G	ENST00000300589.2	+	4	1841	c.1736A>G	c.(1735-1737)gAc>gGc	p.D579G	RP11-327F22.6_ENST00000602304.1_RNA	NM_022162.1	NP_071445.1	Q9HC29	NOD2_HUMAN	nucleotide-binding oligomerization domain containing 2	579	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				activation of MAPK activity (GO:0000187)|activation of MAPK activity involved in innate immune response (GO:0035419)|cellular response to muramyl dipeptide (GO:0071225)|cellular response to peptidoglycan (GO:0071224)|cytokine production involved in immune response (GO:0002367)|defense response (GO:0006952)|defense response to bacterium (GO:0042742)|defense response to Gram-positive bacterium (GO:0050830)|detection of bacterium (GO:0016045)|detection of biotic stimulus (GO:0009595)|detection of muramyl dipeptide (GO:0032498)|immunoglobulin production involved in immunoglobulin mediated immune response (GO:0002381)|innate immune response (GO:0045087)|innate immune response in mucosa (GO:0002227)|intracellular signal transduction (GO:0035556)|JNK cascade (GO:0007254)|macrophage inflammatory protein-1 alpha production (GO:0071608)|maintenance of gastrointestinal epithelium (GO:0030277)|microglial cell activation involved in immune response (GO:0002282)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of inflammatory response to antigenic stimulus (GO:0002862)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of interleukin-18 production (GO:0032701)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of macrophage apoptotic process (GO:2000110)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of T cell mediated immunity (GO:0002710)|negative regulation of toll-like receptor 2 signaling pathway (GO:0034136)|negative regulation of tumor necrosis factor production (GO:0032720)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing 2 signaling pathway (GO:0070431)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of B cell activation (GO:0050871)|positive regulation of biosynthetic process of antibacterial peptides active against Gram-positive bacteria (GO:0006965)|positive regulation of dendritic cell antigen processing and presentation (GO:0002606)|positive regulation of dendritic cell cytokine production (GO:0002732)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gamma-delta T cell activation (GO:0046645)|positive regulation of humoral immune response mediated by circulating immunoglobulin (GO:0002925)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-1 beta production (GO:0032731)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-17 production (GO:0032740)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of JNK cascade (GO:0046330)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of oxidoreductase activity (GO:0051353)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phagocytosis (GO:0050766)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of prostaglandin-E synthase activity (GO:2000363)|positive regulation of prostaglandin-endoperoxide synthase activity (GO:0060585)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of stress-activated MAPK cascade (GO:0032874)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of type 2 immune response (GO:0002830)|protein oligomerization (GO:0051259)|regulation of inflammatory response (GO:0050727)|regulation of neutrophil chemotaxis (GO:0090022)|response to exogenous dsRNA (GO:0043330)|response to lipopolysaccharide (GO:0032496)|response to muramyl dipeptide (GO:0032495)|response to nutrient (GO:0007584)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|vesicle (GO:0031982)	ATP binding (GO:0005524)|CARD domain binding (GO:0050700)|enzyme binding (GO:0019899)|muramyl dipeptide binding (GO:0032500)|peptidoglycan binding (GO:0042834)|protein kinase binding (GO:0019901)			cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(30)|ovary(3)|skin(3)	52		all_cancers(37;0.0156)				AGCCCTGATGACATTTCTCTT	0.607																																						ENST00000300589.2																			0				cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(30)|ovary(3)|skin(3)	52						c.(1735-1737)gAc>gGc		nucleotide-binding oligomerization domain containing 2							51	37	42					16																	50745558		2198	4300	6498	SO:0001583	missense	64127				activation of MAPK activity involved in innate immune response|cytokine production involved in immune response|detection of bacterium|detection of muramyl dipeptide|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of macrophage apoptosis|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of B cell activation|positive regulation of dendritic cell antigen processing and presentation|positive regulation of epithelial cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of gamma-delta T cell activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-10 production|positive regulation of interleukin-17 production|positive regulation of interleukin-6 production|positive regulation of JNK cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of Notch signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of prostaglandin-E synthase activity|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of stress-activated MAPK cascade|positive regulation of tumor necrosis factor production|positive regulation of type 2 immune response|protein oligomerization|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cell surface|cytosol|plasma membrane|vesicle	ATP binding|CARD domain binding|muramyl dipeptide binding|protein kinase binding	g.chr16:50745558A>G	AF178930	CCDS10746.1	16q12	2014-09-17	2006-12-08	2006-12-08	ENSG00000167207	ENSG00000167207		"Nucleotide-binding domain and leucine rich repeat containing"	5331	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 2", "NOD-like receptor C2", "NLR family, CARD domain containing 2"	605956	"caspase recruitment domain family, member 15"	IBD1, CARD15		7809109, 8587604	Standard	XM_005256084		Approved	BLAU, CD, PSORAS1, CLR16.3, NLRC2	uc002egm.1	Q9HC29	OTTHUMG00000133171	ENST00000300589.2:c.1736A>G	16.37:g.50745558A>G	ENSP00000300589:p.Asp579Gly						p.D579G	NM_022162.1	NP_071445.1	Q9HC29	NOD2_HUMAN			4	1841	+		all_cancers(37;0.0156)	579			NACHT.		E2JEQ6|Q96RH5|Q96RH6|Q96RH8	Missense_Mutation	SNP	ENST00000300589.2	37	c.1736A>G	CCDS10746.1	.	.	.	.	.	.	.	.	.	.	A	16.54	3.151963	0.57151	.	.	ENSG00000167207	ENST00000526417;ENST00000300589	T	0.71222	-0.55	5.16	5.16	0.70880	.	0.000000	0.64402	D	0.000005	D	0.82462	0.5042	M	0.79805	2.47	0.58432	D	0.999999	P;D;P	0.67145	0.871;0.996;0.871	B;D;B	0.63283	0.354;0.913;0.354	D	0.85090	0.0951	10	0.72032	D	0.01	.	12.9381	0.58327	1.0:0.0:0.0:0.0	.	363;552;579	D6CHF9;Q9HC29-2;Q9HC29	.;.;NOD2_HUMAN	G	552;579	ENSP00000300589:D579G	ENSP00000300589:D579G	D	+	2	0	NOD2	49303059	1.000000	0.71417	0.313000	0.25210	0.391000	0.30476	5.501000	0.66950	1.946000	0.56461	0.459000	0.35465	GAC		0.607	NOD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256876.2	NM_022162		6	35	0	0	0	3.59834e-05	0	6	35					G	50745558	A	G	50745558	3	3	173	1	0	0	0	0	1	0	0	0	10517	275	10	4	1750	4	NOD2	16	50745558	Missense_Mutation	SNP	A	TCGA-G9-6377-01A-11D-1961-08		50745558	39609195	30	8213											
MYOM1	8736	broad.mit.edu	37	chr18	3135567	3135567	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtttgtcccctaccacagtCacctccgttgcctctgaggg	6	11	9	15	1	2	1	1	1	1	0	4	1	4	1	6	1	2	2	6	1	1	3			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr18:3135567C>A	ENST00000356443.4	-	15	2520	c.2187G>T	c.(2185-2187)gtG>gtT	p.V729V	MYOM1_ENST00000400569.3_Silent_p.V729V|MYOM1_ENST00000261606.7_Silent_p.V729V	NM_003803.3|NM_019856.1	NP_003794.3|NP_062830.1	P52179	MYOM1_HUMAN	myomesin 1	729	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				muscle contraction (GO:0006936)	M band (GO:0031430)|striated muscle myosin thick filament (GO:0005863)	identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|structural constituent of muscle (GO:0008307)			NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						CTACCACAGTCACCTCCGTTG	0.458																																						ENST00000356443.4																			0				NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						c.(2185-2187)gtG>gtT		myomesin 1							42	44	43					18																	3135567		1917	4126	6043	SO:0001819	synonymous_variant	8736					striated muscle myosin thick filament	structural constituent of muscle	g.chr18:3135567C>A	AF185573	CCDS45823.1, CCDS45824.1	18p11.31	2014-09-17	2012-10-17		ENSG00000101605	ENSG00000101605		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	7613	protein-coding gene	gene with protein product	"skelemin"	603508	"myomesin 1 (skelemin) (185kD)", "myomesin 1 (skelemin) 185kDa", "myomesin 1, 185kDa"			9806852	Standard	NM_019856		Approved		uc002klp.3	P52179	OTTHUMG00000178209	ENST00000356443.4:c.2187G>T	18.37:g.3135567C>A						MYOM1_ENST00000261606.7_Silent_p.V729V|MYOM1_ENST00000400569.3_Silent_p.V729V	p.V729V	NM_003803.3|NM_019856.1	NP_003794.3|NP_062830.1	P52179	MYOM1_HUMAN			15	2520	-			729			Fibronectin type-III 2.		Q14BD6|Q6H969|Q6ZUU0	Silent	SNP	ENST00000356443.4	37	c.2187G>T	CCDS45824.1																																																																																				0.458	MYOM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000441037.2	NM_003803		14	15	1	0	1.15088e-07	0.000422831	1.46545e-06	14	15					A	3135567	C	A	3135567	2	1	173	1	0	0	0	0	0	0	0	1	10091	813	29	5		5	MYOM1	18	3135567	Silent	SNP	C	TCGA-G9-6377-01A-11D-1961-08		3135567	74941681	31	8214											
ARHGEF1	9138	broad.mit.edu	37	chr19	42410938	42410938	+	Nonstop_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccccagcctggctgcacttgAggttcccgcccaggaaggtg	6	7	13	15	1	0	1	0	1	0	0	1	2	1	2	5	4	2	3	5	4	1	2			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr19:42410938A>T	ENST00000354532.3	+	28	2887	c.2739A>T	c.(2737-2739)tgA>tgT	p.*913C	ARHGEF1_ENST00000599846.1_Nonstop_Mutation_p.*969C|CTD-2575K13.6_ENST00000597630.1_RNA|ARHGEF1_ENST00000337665.4_Nonstop_Mutation_p.*928C|ARHGEF1_ENST00000347545.4_Nonstop_Mutation_p.*880C|ARHGEF1_ENST00000378152.4_Missense_Mutation_p.R841W	NM_004706.3	NP_004697.2	Q92888	ARHG1_HUMAN	Rho guanine nucleotide exchange factor (GEF) 1	0					cell proliferation (GO:0008283)|negative regulation of axonogenesis (GO:0050771)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of axonogenesis (GO:0050770)|Rho protein signal transduction (GO:0007266)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|poly(A) RNA binding (GO:0044822)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|endometrium(8)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		Renal(1328;0.000518)|Hepatocellular(1079;0.0046)|Medulloblastoma(540;0.0425)		Epithelial(262;5.89e-46)|GBM - Glioblastoma multiforme(1328;2.49e-12)|STAD - Stomach adenocarcinoma(1328;0.00644)		GCTGCACTTGAGGTTCCCGCC	0.657																																						ENST00000599846.1																			0				breast(2)|endometrium(8)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						c.(2905-2907)tgA>tgT		Rho guanine nucleotide exchange factor (GEF) 1							29	27	28					19																	42410938		2203	4300	6503	SO:0001578	stop_lost	0				cell proliferation|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway|positive regulation of axonogenesis|regulation of Rho protein signal transduction|Rho protein signal transduction	cytosol|plasma membrane	GTPase activator activity|protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr19:42410938A>T	U64105	CCDS12590.1, CCDS12591.1, CCDS12592.1	19q13.13	2014-06-19			ENSG00000076928	ENSG00000076928		"Rho guanine nucleotide exchange factors"	681	protein-coding gene	gene with protein product		601855				8810315, 9135076	Standard	NM_004706		Approved	P115-RHOGEF, SUB1.5, LBCL2	uc002osa.3	Q92888	OTTHUMG00000182679	ENST00000354532.3:c.2739A>T	19.37:g.42410938A>T	ENSP00000346532:p.*913Cysext*19					ARHGEF1_ENST00000347545.4_Nonstop_Mutation_p.*880C|ARHGEF1_ENST00000378152.4_Missense_Mutation_p.R841W|ARHGEF1_ENST00000354532.3_Nonstop_Mutation_p.*913C|ARHGEF1_ENST00000337665.4_Nonstop_Mutation_p.*928C	p.*969C			Q92888	ARHG1_HUMAN		Epithelial(262;5.89e-46)|GBM - Glioblastoma multiforme(1328;2.49e-12)|STAD - Stomach adenocarcinoma(1328;0.00644)	29	3032	+		Renal(1328;0.000518)|Hepatocellular(1079;0.0046)|Medulloblastoma(540;0.0425)	0					O00513|Q8N4J4|Q96BF4|Q96F17|Q9BSB1	Nonstop_Mutation	SNP	ENST00000354532.3	37	c.2907A>T	CCDS12591.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	9.579|9.579	1.123113|1.123113	0.20959|0.20959	.|.	.|.	ENSG00000076928|ENSG00000076928	ENST00000378152|ENST00000354532;ENST00000347545;ENST00000337665	T|.	0.69685|.	-0.42|.	4.09|4.09	4.09|4.09	0.47781|0.47781	.|.	0.885835|.	0.09328|.	N|.	0.817303|.	T|.	0.37679|.	0.1012|.	.|.	.|.	.|.	0.09310|0.09310	N|N	1|1	P|.	0.45474|.	0.859|.	P|.	0.46885|.	0.53|.	T|.	0.20538|.	-1.0272|.	9|.	0.72032|.	D|.	0.01|.	-1.9559|-1.9559	9.7848|9.7848	0.40670|0.40670	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	841|.	Q6NX52|.	.|.	W|C	841|913;880;928	ENSP00000367394:R841W|.	ENSP00000367394:R841W|.	R|X	+|+	1|3	2|0	ARHGEF1|ARHGEF1	47102778|47102778	1.000000|1.000000	0.71417|0.71417	0.956000|0.956000	0.39512|0.39512	0.417000|0.417000	0.31264|0.31264	2.019000|2.019000	0.41001|0.41001	1.624000|1.624000	0.50355|0.50355	0.397000|0.397000	0.26171|0.26171	AGG|TGA		0.657	ARHGEF1-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000463360.1	NM_199002		9	21	0	0	0	0.000978159	0	9	21					T	42410938	A	T	42410938	4	4	173	1	0	0	0	0	0	0	0	0	893	317	11	5	2894	5	ARHGEF1	19	42410938	Nonstop_Mutation	SNP	A	TCGA-G9-6377-01A-11D-1961-08		42410938	16718045	32	8215											
GRIK5	2901	broad.mit.edu	37	chr19	42566936	42566936	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctccacagatatggctcaCggtggaggcagatgctgggc	8	8	14	11	1	2	2	1	0	1	2	3	3	2	3	1	5	1	3	1	5	1	1	rs145589136		TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr19:42566936C>T	ENST00000262895.3	-	3	315	c.316G>A	c.(316-318)Gtg>Atg	p.V106M	GRIK5_ENST00000593562.1_Missense_Mutation_p.V106M|GRIK5_ENST00000301218.4_Missense_Mutation_p.V106M	NM_002088.4	NP_002079.3	Q16478	GRIK5_HUMAN	glutamate receptor, ionotropic, kainate 5	106					cellular response to glucose stimulus (GO:0071333)|establishment of localization in cell (GO:0051649)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|positive regulation of neuron apoptotic process (GO:0043525)|protein retention in ER lumen (GO:0006621)|receptor clustering (GO:0043113)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of synaptic vesicle fusion to presynaptic membrane (GO:0031630)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|kainate selective glutamate receptor complex (GO:0032983)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	extracellular-glutamate-gated ion channel activity (GO:0005234)|kainate selective glutamate receptor activity (GO:0015277)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	35		Prostate(69;0.059)				ATATGGCTCACGGTGGAGGCA	0.632																																						ENST00000262895.3																			0				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	35						c.(316-318)Gtg>Atg		glutamate receptor, ionotropic, kainate 5	L-Glutamic Acid(DB00142)	C	MET/VAL	1,4405	2.1+/-5.4	0,1,2202	90	81	84		316	5.7	1	19	dbSNP_134	84	1,8599	1.2+/-3.3	0,1,4299	no	missense	GRIK5	NM_002088.3	21	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	probably-damaging	106/981	42566936	2,13004	2203	4300	6503	SO:0001583	missense	2901					cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity	g.chr19:42566936C>T		CCDS12595.1	19q13.2	2012-08-29			ENSG00000105737	ENSG00000105737		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4583	protein-coding gene	gene with protein product		600283		GRIK2		7527545	Standard	NM_002088		Approved	GluK5, KA2	uc002osj.2	Q16478	OTTHUMG00000044573	ENST00000262895.3:c.316G>A	19.37:g.42566936C>T	ENSP00000262895:p.Val106Met					GRIK5_ENST00000301218.4_Missense_Mutation_p.V106M|GRIK5_ENST00000593562.1_Missense_Mutation_p.V106M	p.V106M	NM_002088.4	NP_002079.3	Q16478	GRIK5_HUMAN			3	315	-		Prostate(69;0.059)	106					Q8WWG8	Missense_Mutation	SNP	ENST00000262895.3	37	c.316G>A	CCDS12595.1	.	.	.	.	.	.	.	.	.	.	C	25.2	4.608539	0.87258	2.27E-4	1.16E-4	ENSG00000105737	ENST00000262895;ENST00000301218	D;D	0.86030	-2.06;-2.06	5.71	5.71	0.89125	Extracellular ligand-binding receptor (1);	0.311274	0.29638	N	0.011581	D	0.90003	0.6879	L	0.48642	1.525	0.48040	D	0.99957	D	0.71674	0.998	D	0.67900	0.954	D	0.90503	0.4475	10	0.87932	D	0	.	18.6332	0.91368	0.0:1.0:0.0:0.0	.	106	Q16478	GRIK5_HUMAN	M	106	ENSP00000262895:V106M;ENSP00000301218:V106M	ENSP00000262895:V106M	V	-	1	0	GRIK5	47258776	0.910000	0.30920	0.965000	0.40720	0.992000	0.81027	1.314000	0.33597	2.713000	0.92767	0.643000	0.83706	GTG		0.632	GRIK5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463453.1			28	53	0	0	0	0.000184323	0	28	53					T	42566936	C	T	42566936	3	4	173	1	0	0	0	0	1	0	0	0	6777	536	19	1	2694	1	GRIK5	19	42566936	Missense_Mutation	SNP	C	TCGA-G9-6377-01A-11D-1961-08	155998	42566936	16562047	33	8216											
ZNF28	7576	broad.mit.edu	37	chr19	53304661	53304661	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgtgcagttcaggcagatgcGaatgaaagcttaatccaagc	13	9	11	8	1	1	2	1	1	0	1	2	3	2	2	1	1	4	4	1	1	4	2			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr19:53304661G>A	ENST00000457749.2	-	4	556	c.437C>T	c.(436-438)tCg>tTg	p.S146L	ZNF28_ENST00000594602.1_3'UTR|ZNF28_ENST00000414252.2_Missense_Mutation_p.S93L|ZNF28_ENST00000360272.4_Missense_Mutation_p.S93L|ZNF28_ENST00000438150.2_Missense_Mutation_p.S93L	NM_006969.3	NP_008900.3	P17035	ZNF28_HUMAN	zinc finger protein 28	146					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|liver(1)|lung(10)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(134;0.0386)|Lung(386;0.145)		AGGCAGATGCGAATGAAAGCT	0.398																																						ENST00000438150.2																			0				breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|liver(1)|lung(10)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						c.(277-279)tCg>tTg		zinc finger protein 28							231	220	224					19																	53304661		2203	4300	6503	SO:0001583	missense	7576				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53304661G>A	X52355	CCDS33093.1, CCDS33093.2	19q13.41	2013-01-08	2006-05-10		ENSG00000198538	ENSG00000198538		"Zinc fingers, C2H2-type", "-"	13073	protein-coding gene	gene with protein product			"zinc finger protein 28 (KOX 24)"				Standard	NR_036599		Approved	KOX24, DKFZp781D0275	uc002qad.3	P17035	OTTHUMG00000154564	ENST00000457749.2:c.437C>T	19.37:g.53304661G>A	ENSP00000397693:p.Ser146Leu					ZNF28_ENST00000457749.2_Missense_Mutation_p.S146L|ZNF28_ENST00000414252.2_Missense_Mutation_p.S93L|ZNF28_ENST00000594602.1_3'UTR|ZNF28_ENST00000360272.4_Missense_Mutation_p.S93L	p.S93L			P17035	ZNF28_HUMAN		GBM - Glioblastoma multiforme(134;0.0386)|Lung(386;0.145)	2	1171	-			146					A8KAK9|B4E3G0|B9EIK7|Q5H9V1|Q5HYM9|Q6ZML9|Q6ZN56	Missense_Mutation	SNP	ENST00000457749.2	37	c.278C>T	CCDS33093.2	.	.	.	.	.	.	.	.	.	.	-	3.684	-0.064980	0.07273	.	.	ENSG00000198538	ENST00000438150;ENST00000457749;ENST00000360272;ENST00000414252;ENST00000391783	T;T;T;T;T	0.09817	2.94;3.14;2.94;2.94;2.97	0.762	-0.575	0.11734	.	.	.	.	.	T	0.11793	0.0287	M	0.73962	2.25	0.09310	N	1	B	0.12013	0.005	B	0.08055	0.003	T	0.34477	-0.9827	9	0.62326	D	0.03	.	2.94	0.05826	0.0:0.3034:0.392:0.3046	.	146	P17035	ZNF28_HUMAN	L	93;146;93;93;93	ENSP00000412143:S93L;ENSP00000397693:S146L;ENSP00000353410:S93L;ENSP00000444965:S93L;ENSP00000375661:S93L	ENSP00000353410:S93L	S	-	2	0	ZNF28	57996473	0.000000	0.05858	0.001000	0.08648	0.003000	0.03518	-0.956000	0.03865	-0.137000	0.11455	-0.873000	0.02984	TCG		0.398	ZNF28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336038.2	NM_006969		17	319	0	0	0	0.00074312	0	17	319					A	53304661	G	A	53304661	3	1	173	1	0	0	0	0	1	0	0	0	17810	1059	37	2	1723	2	ZNF28	19	53304661	Missense_Mutation	SNP	G	TCGA-G9-6377-01A-11D-1961-08	10737725	53304661	5824322	34	8217											
SIRPA	140885	broad.mit.edu	37	chr20	1902248	1902248	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catccacagcacagccaaggTggtgctgacccgcgaggacg	10	4	13	14	3	0	1	0	1	0	0	1	3	1	2	3	3	3	2	3	3	1	0			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr20:1902248T>G	ENST00000358771.4	+	3	796	c.644T>G	c.(643-645)gTg>gGg	p.V215G	SIRPA_ENST00000356025.3_Missense_Mutation_p.V215G|SIRPA_ENST00000400068.3_Missense_Mutation_p.V215G	NM_001040023.1	NP_001035112.1	P78324	SHPS1_HUMAN	signal-regulatory protein alpha	215	Ig-like C1-type 1.				blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|leukocyte migration (GO:0050900)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)				cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	21				Colorectal(46;0.018)|READ - Rectum adenocarcinoma(1;0.0556)		ACAGCCAAGGTGGTGCTGACC	0.572																																					GBM(155;1668 1920 5945 42733 48121)	ENST00000358771.4																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	21						c.(643-645)gTg>gGg		signal-regulatory protein alpha							105	92	96					20																	1902248		2203	4300	6503	SO:0001583	missense	140885				blood coagulation|cell adhesion|cell junction assembly|leukocyte migration	integral to membrane|plasma membrane	SH3 domain binding	g.chr20:1902248T>G	D86043	CCDS13022.1	20p13	2013-01-11	2006-03-29	2006-03-29	ENSG00000198053	ENSG00000198053		"Signal-regulatory proteins", "CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C1-set domain containing"	9662	protein-coding gene	gene with protein product		602461	"protein tyrosine phosphatase, non-receptor type substrate 1"	PTPNS1		9070220, 9062191, 16339511	Standard	XM_005260669		Approved	SHPS1, SIRP, MYD-1, BIT, P84, SHPS-1, SIRPalpha, CD172a, SIRPalpha2, MFR, SIRP-ALPHA-1	uc002wfr.3	P78324	OTTHUMG00000031682	ENST00000358771.4:c.644T>G	20.37:g.1902248T>G	ENSP00000351621:p.Val215Gly					SIRPA_ENST00000400068.3_Missense_Mutation_p.V215G|SIRPA_ENST00000356025.3_Missense_Mutation_p.V215G	p.V215G	NM_001040023.1	NP_001035112.1	P78324	SHPS1_HUMAN		Colorectal(46;0.018)|READ - Rectum adenocarcinoma(1;0.0556)	3	796	+			215			Ig-like C1-type 1.		A2A2E1|A8K411|B2R6C3|O00683|O43799|Q8N517|Q8TAL8|Q9H0Z2|Q9UDX2|Q9UIJ6|Q9Y4U9	Missense_Mutation	SNP	ENST00000358771.4	37	c.644T>G	CCDS13022.1	.	.	.	.	.	.	.	.	.	.	T	13.62	2.291044	0.40494	.	.	ENSG00000198053	ENST00000400068;ENST00000356025;ENST00000358771	T;T;T	0.03772	3.81;3.81;3.81	4.86	4.86	0.63082	Immunoglobulin-like (1);Immunoglobulin C1-set (2);Immunoglobulin-like fold (1);	0.118971	0.37437	N	0.002087	T	0.26159	0.0638	M	0.90977	3.165	0.48395	D	0.999643	D;P;D	0.71674	0.988;0.913;0.998	D;D;D	0.85130	0.995;0.935;0.997	T	0.04165	-1.0972	10	0.87932	D	0	.	11.0842	0.48078	0.0:0.0:0.0:1.0	.	195;215;215	B4DP97;P78324-2;P78324	.;.;SHPS1_HUMAN	G	215	ENSP00000382941:V215G;ENSP00000348307:V215G;ENSP00000351621:V215G	ENSP00000348307:V215G	V	+	2	0	SIRPA	1850248	0.994000	0.37717	0.265000	0.24526	0.129000	0.20672	2.575000	0.46025	2.195000	0.70347	0.529000	0.55759	GTG		0.572	SIRPA-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000077568.2	NM_080792		7	103	0	0	0	0.000157383	0	7	103					G	1902248	T	G	1902248	3	3	173	1	0	0	0	0	1	0	0	0	14332	1696	59	5	654	5	SIRPA	20	1902248	Missense_Mutation	SNP	T	TCGA-G9-6377-01A-11D-1961-08		1902248	61123272	35	8218											
CDH4	1002	broad.mit.edu	37	chr20	60448792	60448792	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctccgttccaggcacctacGtgatgaccgtcacggccaac	8	8	9	16	4	2	2	1	2	1	0	4	2	3	2	5	2	2	2	5	2	2	2			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr20:60448792G>A	ENST00000360469.5	+	7	974	c.886G>A	c.(886-888)Gtg>Atg	p.V296M	CDH4_ENST00000543233.1_Missense_Mutation_p.V222M	NM_001794.3	NP_001785.2	P55283	CADH4_HUMAN	cadherin 4, type 1, R-cadherin (retinal)	296	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74			BRCA - Breast invasive adenocarcinoma(19;2.36e-08)			AGGCACCTACGTGATGACCGT	0.662																																						ENST00000360469.5																			0				NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74						c.(886-888)Gtg>Atg		cadherin 4, type 1, R-cadherin (retinal)							109	87	94					20																	60448792		2203	4300	6503	SO:0001583	missense	1002				adherens junction organization|cell junction assembly		calcium ion binding	g.chr20:60448792G>A	L34059	CCDS13488.1, CCDS58784.1	20q13.3	2010-01-26			ENSG00000179242	ENSG00000179242		"Cadherins / Major cadherins"	1763	protein-coding gene	gene with protein product	"R-Cadherin"	603006				10191097, 10516427	Standard	NM_001794		Approved		uc002ybn.2	P55283	OTTHUMG00000032890	ENST00000360469.5:c.886G>A	20.37:g.60448792G>A	ENSP00000353656:p.Val296Met					CDH4_ENST00000543233.1_Missense_Mutation_p.V222M	p.V296M	NM_001794.3	NP_001785.2	P55283	CADH4_HUMAN	BRCA - Breast invasive adenocarcinoma(19;2.36e-08)		7	974	+			296			Cadherin 2.		B3KWB8|G3V1P8|Q2M208|Q5VZ44|Q9BZ05	Missense_Mutation	SNP	ENST00000360469.5	37	c.886G>A	CCDS13488.1	.	.	.	.	.	.	.	.	.	.	G	28.2	4.895727	0.91962	.	.	ENSG00000179242	ENST00000360469;ENST00000536643;ENST00000543233	T;T	0.68765	-0.35;-0.35	5.01	5.01	0.66863	Cadherin (4);Cadherin-like (1);	0.062014	0.64402	D	0.000004	D	0.87297	0.6142	H	0.96269	3.795	0.80722	D	1	D	0.76494	0.999	D	0.65684	0.937	D	0.91740	0.5403	9	.	.	.	.	18.3781	0.90441	0.0:0.0:1.0:0.0	.	296	P55283	CADH4_HUMAN	M	296;204;222	ENSP00000353656:V296M;ENSP00000443301:V222M	.	V	+	1	0	CDH4	59882187	1.000000	0.71417	1.000000	0.80357	0.907000	0.53573	7.681000	0.84073	2.330000	0.79161	0.650000	0.86243	GTG		0.662	CDH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079965.2	NM_001794		33	66	0	0	0	0.000692331	0	33	66					A	60448792	G	A	60448792	3	1	173	1	0	0	0	0	1	0	0	0	3112	1145	40	1	912	1	CDH4	20	60448792	Missense_Mutation	SNP	G	TCGA-G9-6377-01A-11D-1961-08	58546544	60448792	2576728	36	8219											
PCDH11Y	83259	broad.mit.edu	37	chrY	4967494	4967494	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtacagtaggactaatcacTgtaactgatcctgattatgg	12	12	10	7	0	1	2	1	2	0	0	2	3	2	3	1	3	2	3	1	3	5	5			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chrY:4967494T>A	ENST00000333703.4	+	5	2355	c.1842T>A	c.(1840-1842)acT>acA	p.T614T	PCDH11Y_ENST00000362095.5_Silent_p.T625T|PCDH11Y_ENST00000215473.6_Silent_p.T625T	NM_001278619.1|NM_032971.2	NP_001265548.1|NP_116753.1	Q9BZA8	PC11Y_HUMAN	protocadherin 11 Y-linked	625	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|kidney(2)|large_intestine(7)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						GACTAATCACTGTAACTGATC	0.393																																						ENST00000333703.4																			0				autonomic_ganglia(1)|kidney(2)|large_intestine(7)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						c.(1840-1842)acT>acA		protocadherin 11 Y-linked																																				SO:0001819	synonymous_variant	83259				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chrY:4967494T>A	AF332217	CCDS14776.1, CCDS14777.1, CCDS76066.1	Yp11.2	2010-01-26	2002-05-22	2002-05-24	ENSG00000099715	ENSG00000099715		"Cadherins / Protocadherins : Non-clustered"	15813	protein-coding gene	gene with protein product		400022	"protocadherin 22"	PCDH22		10644456, 11003707	Standard	NM_032971		Approved	PCDHY	uc004fqo.3	Q9BZA8	OTTHUMG00000035105	ENST00000333703.4:c.1842T>A	Y.37:g.4967494T>A						PCDH11Y_ENST00000362095.5_Silent_p.T625T|PCDH11Y_ENST00000215473.6_Silent_p.T625T	p.T614T	NM_001278619.1|NM_032971.2	NP_001265548.1|NP_116753.1	Q9BZA8	PC11Y_HUMAN			5	2355	+			625			Cadherin 6.		Q70LR6|Q70LR8|Q70LS0|Q70LS1|Q70LS2|Q70LS3|Q70LS4|Q70LS5|Q8WY34|Q9BZA9|Q9H4E1	Silent	SNP	ENST00000333703.4	37	c.1842T>A	CCDS14776.1																																																																																				0.393	PCDH11Y-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084979.2	NM_032973		5	32	0	0	0	0.000602214	0	5	32					A	4967494	T	A	4967494	2	1	173	1	0	0	0	0	0	0	0	1	11509	1567	55	5		5	PCDH11Y	24	4967494	Silent	SNP	T	TCGA-G9-6377-01A-11D-1961-08		4967494	54406072	37	8220											
ABCA4	24	broad.mit.edu	37	chr1	94506837	94506837	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aagtacaagcctgtgccaaaGcagttcttcaggaagagtgg	13	8	12	8	0	2	1	1	0	1	1	2	2	2	2	2	2	4	3	2	2	5	3			TCGA-G9-6378-01A-11D-1786-08	TCGA-G9-6378-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e0102ae-f348-417d-b442-b660a411fd1a	812bc9a9-75fc-4ab0-99d7-8e2d45c17f4c	g.chr1:94506837G>A	ENST00000370225.3	-	23	3536	c.3450C>T	c.(3448-3450)tgC>tgT	p.C1150C		NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	1150	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				phospholipid transfer to membrane (GO:0006649)|photoreceptor cell maintenance (GO:0045494)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|photoreceptor disc membrane (GO:0097381)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|phospholipid-translocating ATPase activity (GO:0004012)|transporter activity (GO:0005215)	p.C1150C(1)		NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		CTGTGCCAAAGCAGTTCTTCA	0.562																																						ENST00000370225.3																			1	Substitution - coding silent(1)	p.C1150C(1)	prostate(1)	NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147						c.(3448-3450)tgC>tgT		ATP-binding cassette, sub-family A (ABC1), member 4							122	112	115					1																	94506837		2203	4300	6503	SO:0001819	synonymous_variant	24				phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr1:94506837G>A	U88667	CCDS747.1	1p22	2013-01-23			ENSG00000198691	ENSG00000198691		"ATP binding cassette transporters / subfamily A"	34	protein-coding gene	gene with protein product	"Stargardt disease"	601691	"ATP-binding cassette transporter, retinal-specific"	STGD1, ABCR, RP19, STGD		9490294	Standard	NM_000350		Approved	FFM, ARMD2, CORD3	uc001dqh.3	P78363	OTTHUMG00000010622	ENST00000370225.3:c.3450C>T	1.37:g.94506837G>A							p.C1150C	NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)	23	3536	-		all_lung(203;0.000757)|Lung NSC(277;0.00335)	1150			ABC transporter 1.		O15112|O60438|O60915|Q0QD48|Q4LE31	Silent	SNP	ENST00000370225.3	37	c.3450C>T	CCDS747.1																																																																																				0.562	ABCA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029320.1	NM_000350		19	75	0	0	0	0.049695	0	19	75					A	94506837	G	A	94506837	2	1	174	1	0	0	0	0	0	0	0	1	34	963	34	3		3	ABCA4	1	94506837	Silent	SNP	G	TCGA-G9-6378-01A-11D-1786-08		94506837	154743784	1	8221											
SPRR2F	6705	broad.mit.edu	37	chr1	153085079	153085079	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ggcactgctgaggtgggcagGactgtggacactttgatggt	7	10	17	7	0	0	2	0	2	0	0	0	4	0	4	0	6	1	3	0	6	0	1			TCGA-G9-6378-01A-11D-1786-08	TCGA-G9-6378-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e0102ae-f348-417d-b442-b660a411fd1a	812bc9a9-75fc-4ab0-99d7-8e2d45c17f4c	g.chr1:153085079G>A	ENST00000468739.1	-	2	191	c.131C>T	c.(130-132)tCc>tTc	p.S44F	SPRR2B_ENST00000368752.4_Intron	NM_001014450.1	NP_001014450.1	Q96RM1	SPR2F_HUMAN	small proline-rich protein 2F	44	3 X 9 AA tandem repeats of [PS]-K-C-P- [EQ]-[PS]-C-P-P.				epidermis development (GO:0008544)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)	cornified envelope (GO:0001533)|cytoplasm (GO:0005737)		p.S44F(1)		large_intestine(1)|lung(1)|prostate(1)|urinary_tract(1)	4	Lung NSC(65;1.49e-28)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			AGGTGGGCAGGACTGTGGACA	0.617																																						ENST00000468739.1																			1	Substitution - Missense(1)	p.S44F(1)	prostate(1)	large_intestine(1)|lung(1)|prostate(1)|urinary_tract(1)	4						c.(130-132)tCc>tTc		small proline-rich protein 2F							239	211	220					1																	153085079		2203	4300	6503	SO:0001583	missense	0				keratinization	cornified envelope|cytoplasm		g.chr1:153085079G>A	AF333956	CCDS30867.1	1q21-q22	2008-02-05			ENSG00000244094	ENSG00000244094			11266	protein-coding gene	gene with protein product						8325635, 11279051	Standard	NM_001014450		Approved		uc001fbi.3	Q96RM1	OTTHUMG00000014398	ENST00000468739.1:c.131C>T	1.37:g.153085079G>A	ENSP00000418193:p.Ser44Phe					SPRR2B_ENST00000368752.4_Intron	p.S44F	NM_001014450.1	NP_001014450.1	Q96RM1	SPR2F_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		2	191	-	Lung NSC(65;1.49e-28)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		44			3 X 9 AA tandem repeats of [PS]-K-C-P- [EQ]-[PS]-C-P-P.		Q5T9T3	Missense_Mutation	SNP	ENST00000468739.1	37	c.131C>T	CCDS30867.1	.	.	.	.	.	.	.	.	.	.	G	0.207	-1.039898	0.02013	.	.	ENSG00000244094	ENST00000468739	T	0.30981	1.51	3.44	0.369	0.16151	.	0.496849	0.15130	N	0.278880	T	0.07143	0.0181	.	.	.	0.09310	N	1	B	0.14805	0.011	B	0.15484	0.013	T	0.31833	-0.9929	9	0.87932	D	0	.	2.9584	0.05884	0.2454:0.0:0.541:0.2136	.	44	Q96RM1	SPR2F_HUMAN	F	44	ENSP00000418193:S44F	ENSP00000418193:S44F	S	-	2	0	SPRR2F	151351703	0.541000	0.26417	0.000000	0.03702	0.024000	0.10985	0.405000	0.21015	-0.118000	0.11851	0.306000	0.20318	TCC		0.617	SPRR2F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040056.1			54	313	0	0	0	0.139131	0	54	313					A	153085079	G	A	153085079	3	1	174	1	0	0	0	0	1	0	0	0	15100	1174	41	3	91	3	SPRR2F	1	153085079	Missense_Mutation	SNP	G	TCGA-G9-6378-01A-11D-1786-08	58578242	153085079	96165542	2	8222											
OR6K6	128371	broad.mit.edu	37	chr1	158725008	158725008	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agatgtactttttccactcaCttggtatcacagaaagctgt	11	14	7	9	0	2	2	2	0	0	2	3	2	3	2	1	1	2	3	1	1	3	5			TCGA-G9-6378-01A-11D-1786-08	TCGA-G9-6378-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e0102ae-f348-417d-b442-b660a411fd1a	812bc9a9-75fc-4ab0-99d7-8e2d45c17f4c	g.chr1:158725008C>A	ENST00000368144.2	+	1	499	c.403C>A	c.(403-405)Ctt>Att	p.L135I		NM_001005184.1	NP_001005184.1	Q8NGW6	OR6K6_HUMAN	olfactory receptor, family 6, subfamily K, member 6	135						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|large_intestine(5)|lung(17)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_hematologic(112;0.0378)					TTTCCACTCACTTGGTATCAC	0.493																																						ENST00000368144.2																			0				endometrium(1)|large_intestine(5)|lung(17)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(403-405)Ctt>Att		olfactory receptor, family 6, subfamily K, member 6							77	74	75					1																	158725008		2203	4300	6503	SO:0001583	missense	128371				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158725008C>A	BK004198	CCDS30904.1	1q23.1	2012-08-09			ENSG00000180433	ENSG00000180433		"GPCR / Class A : Olfactory receptors"	15033	protein-coding gene	gene with protein product							Standard	NM_001005184		Approved		uc001fsw.1	Q8NGW6	OTTHUMG00000022772	ENST00000368144.2:c.403C>A	1.37:g.158725008C>A	ENSP00000357126:p.Leu135Ile						p.L135I	NM_001005184.1	NP_001005184.1	Q8NGW6	OR6K6_HUMAN			1	499	+	all_hematologic(112;0.0378)		135					B9EIM8|Q5VUU9|Q6IFR4	Missense_Mutation	SNP	ENST00000368144.2	37	c.403C>A	CCDS30904.1	.	.	.	.	.	.	.	.	.	.	C	10.65	1.410628	0.25465	.	.	ENSG00000180433	ENST00000368144	T	0.03496	3.91	5.48	3.6	0.41247	GPCR, rhodopsin-like superfamily (1);	0.000000	0.36972	N	0.002307	T	0.02688	0.0081	M	0.80422	2.495	0.09310	N	1	P	0.39964	0.697	B	0.38500	0.275	T	0.26643	-1.0097	10	0.66056	D	0.02	-13.2547	8.9857	0.35992	0.0:0.7695:0.0:0.2305	.	135	Q8NGW6	OR6K6_HUMAN	I	135	ENSP00000357126:L135I	ENSP00000357126:L135I	L	+	1	0	OR6K6	156991632	0.000000	0.05858	0.128000	0.21923	0.771000	0.43674	-0.376000	0.07465	0.856000	0.35383	0.655000	0.94253	CTT		0.493	OR6K6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059065.2	NM_001005184		4	85	1	0	3.41278e-10	0.0333	4.0567e-10	4	85					A	158725008	C	A	158725008	3	1	174	1	0	0	0	0	1	0	0	0	11204	565	20	5	405	5	OR6K6	1	158725008	Missense_Mutation	SNP	C	TCGA-G9-6378-01A-11D-1786-08	5639929	158725008	90525613	3	8223											
C1orf110	339512	broad.mit.edu	37	chr1	162824943	162824943	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tttggcatggaacagagatgCccttgctggggtctacgtcc	7	11	13	10	1	1	1	0	0	1	1	2	3	2	2	2	4	4	2	2	4	2	3			TCGA-G9-6378-01A-11D-1786-08	TCGA-G9-6378-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e0102ae-f348-417d-b442-b660a411fd1a	812bc9a9-75fc-4ab0-99d7-8e2d45c17f4c	g.chr1:162824943C>T	ENST00000367910.1	-	4	641	c.521G>A	c.(520-522)gGc>gAc	p.G174D	C1orf110_ENST00000367912.2_Missense_Mutation_p.G173D|C1orf110_ENST00000367911.2_Missense_Mutation_p.G169D|C1orf110_ENST00000524691.1_Intron	NM_178550.4	NP_848645.3	Q86UF4	CA110_HUMAN	chromosome 1 open reading frame 110	174								p.G174D(1)		endometrium(2)|kidney(1)|lung(6)|prostate(1)|skin(2)	12						AACAGAGATGCCCTTGCTGGG	0.463																																						ENST00000367912.1																			1	Substitution - Missense(1)	p.G174D(1)	prostate(1)	endometrium(2)|kidney(1)|lung(6)|prostate(1)|skin(2)	12						c.(517-519)gGc>gAc		chromosome 1 open reading frame 110							283	270	274					1																	162824943		1950	4143	6093	SO:0001583	missense	339512							g.chr1:162824943C>T	BC040018	CCDS44269.1	1q23.3	2012-06-26			ENSG00000185860	ENSG00000185860			28736	protein-coding gene	gene with protein product						12477932	Standard	NM_178550		Approved	MGC48998	uc001gck.2	Q86UF4	OTTHUMG00000034421	ENST00000367910.1:c.521G>A	1.37:g.162824943C>T	ENSP00000356886:p.Gly174Asp					C1orf110_ENST00000367911.2_Missense_Mutation_p.G169D|C1orf110_ENST00000524691.1_Intron|C1orf110_ENST00000367910.1_Missense_Mutation_p.G174D	p.G173D			Q86UF4	CA110_HUMAN			4	692	-			174					Q5JSG1|Q6ZW57	Missense_Mutation	SNP	ENST00000367910.1	37	c.518G>A	CCDS44269.1	.	.	.	.	.	.	.	.	.	.	C	12.44	1.939737	0.34189	.	.	ENSG00000185860	ENST00000367912;ENST00000367911;ENST00000367910	.	.	.	3.98	-0.182	0.13287	.	0.960827	0.08589	N	0.923390	T	0.04861	0.0131	N	0.11560	0.145	0.24087	N	0.995921	B;B	0.15141	0.012;0.012	B;B	0.20577	0.03;0.03	T	0.40001	-0.9586	8	0.15499	T	0.54	-0.0542	2.6827	0.05099	0.209:0.4309:0.0:0.3602	.	173;174	Q86UF4-2;Q86UF4	.;CA110_HUMAN	D	173;169;174	.	ENSP00000356886:G174D	G	-	2	0	C1orf110	161091567	0.000000	0.05858	0.011000	0.14972	0.120000	0.20174	-0.623000	0.05546	0.076000	0.16826	0.655000	0.94253	GGC		0.463	C1orf110-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083211.2	NM_178550		59	306	0	0	0	0.139131	0	59	306					T	162824943	C	T	162824943	3	4	174	1	0	0	0	0	1	0	0	0	1983	739	26	3	391	3	C1orf110	1	162824943	Missense_Mutation	SNP	C	TCGA-G9-6378-01A-11D-1786-08	4099935	162824943	86425678	4	8224											
RASAL2	9462	broad.mit.edu	37	chr1	178269157	178269157	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagggggacaggagcagcagAcagattccaccaaagggcga	15	2	15	9	1	0	2	0	0	0	2	1	5	1	4	2	4	2	2	2	4	2	1			TCGA-G9-6378-01A-11D-1786-08	TCGA-G9-6378-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e0102ae-f348-417d-b442-b660a411fd1a	812bc9a9-75fc-4ab0-99d7-8e2d45c17f4c	g.chr1:178269157A>G	ENST00000367649.3	+	3	713	c.361A>G	c.(361-363)Aca>Gca	p.T121A	RASAL2_ENST00000448150.3_Missense_Mutation_p.T103A|RASAL2_ENST00000465723.1_3'UTR			Q9UJF2	NGAP_HUMAN	RAS protein activator like 2	0	PH.				negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	Ras GTPase activator activity (GO:0005099)	p.T121A(1)|p.T103A(1)		biliary_tract(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(2)|lung(25)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54						GGAGCAGCAGACAGATTCCAC	0.473											OREG0014010	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000448150.3																			2	Substitution - Missense(2)	p.T121A(1)|p.T103A(1)	prostate(2)	biliary_tract(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(2)|lung(25)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54						c.(307-309)Aca>Gca		RAS protein activator like 2							74	79	77					1																	178269157		2203	4300	6503	SO:0001583	missense	9462				negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity	g.chr1:178269157A>G	AF047711	CCDS1321.1, CCDS1322.1, CCDS1321.2	1q25	2013-01-10			ENSG00000075391	ENSG00000075391		"Pleckstrin homology (PH) domain containing"	9874	protein-coding gene	gene with protein product	"Ras GTPase activating protein-like", "Ras protein activator like 1"	606136				9877179	Standard	NM_004841		Approved	nGAP	uc001glq.3	Q9UJF2	OTTHUMG00000035022	ENST00000367649.3:c.361A>G	1.37:g.178269157A>G	ENSP00000356621:p.Thr121Ala		OREG0014010	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1945	RASAL2_ENST00000465723.1_3'UTR|RASAL2_ENST00000367649.3_Missense_Mutation_p.T121A	p.T103A	NM_170692.2	NP_733793.2	Q9UJF2	NGAP_HUMAN			3	1125	+			0			PH.		F8W755|O95174|Q2TB22|Q5TFU9	Missense_Mutation	SNP	ENST00000367649.3	37	c.307A>G	CCDS1321.2	.	.	.	.	.	.	.	.	.	.	A	9.256	1.042012	0.19748	.	.	ENSG00000075391	ENST00000448150;ENST00000367649	T;T	0.31247	1.5;1.5	5.37	-7.87	0.01183	.	0.662263	0.14327	N	0.326628	T	0.10937	0.0267	N	0.17082	0.46	0.24157	N	0.995673	B	0.02656	0.0	B	0.01281	0.0	T	0.14643	-1.0465	10	0.20519	T	0.43	.	3.5413	0.07812	0.3208:0.204:0.3758:0.0993	.	121	F8W755	.	A	103;121	ENSP00000407768:T103A;ENSP00000356621:T121A	ENSP00000356621:T121A	T	+	1	0	RASAL2	176535780	0.035000	0.19736	0.124000	0.21820	0.562000	0.35680	-0.365000	0.07573	-1.797000	0.01252	-1.219000	0.01604	ACA		0.473	RASAL2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000352415.1	NM_170692		10	66	0	0	0	0.080935	0	10	66					G	178269157	A	G	178269157	3	3	174	1	0	0	0	0	1	0	0	0	13064	275	10	4	371	4	RASAL2	1	178269157	Missense_Mutation	SNP	A	TCGA-G9-6378-01A-11D-1786-08	15444214	178269157	70981464	5	8225											
OBSCN	84033	broad.mit.edu	37	chr1	228509861	228509861	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tgtgcatcagcaaagagactCctgcccctgtggtgcctcca	8	9	10	14	0	1	1	1	0	0	1	3	2	3	1	5	1	4	2	5	1	1	0	rs201233499		TCGA-G9-6378-01A-11D-1786-08	TCGA-G9-6378-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e0102ae-f348-417d-b442-b660a411fd1a	812bc9a9-75fc-4ab0-99d7-8e2d45c17f4c	g.chr1:228509861C>T	ENST00000422127.1	+	55	15363	c.15319C>T	c.(15319-15321)Cct>Tct	p.P5107S	OBSCN_ENST00000366709.4_Missense_Mutation_p.P2226S|OBSCN_ENST00000284548.11_Missense_Mutation_p.P5107S|OBSCN_ENST00000570156.2_Missense_Mutation_p.P6064S|OBSCN_ENST00000366707.4_Missense_Mutation_p.P2741S	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	5107					apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)	p.P5689S(1)		NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CAAAGAGACTCCTGCCCCTGT	0.597													C|||	1	0.000199681	8e-04	0	5008	,	,		17619	0		0	False		,,,				2504	0					ENST00000570156.2																			1	Substitution - Missense(1)	p.P5689S(1)	prostate(1)	NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223						c.(18190-18192)Cct>Tct		obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF		C	SER/PRO,SER/PRO	7,4123		0,7,2058	45	52	50		15319,15319	1.6	0.1	1		50	0,8434		0,0,4217	yes	missense,missense	OBSCN	NM_001098623.1,NM_052843.2	74,74	0,7,6275	TT,TC,CC		0.0,0.1695,0.0557	benign,benign	5107/7969,5107/6621	228509861	7,12557	2065	4217	6282	SO:0001583	missense	84033				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	g.chr1:228509861C>T	AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"Rho guanine nucleotide exchange factors", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.15319C>T	1.37:g.228509861C>T	ENSP00000409493:p.Pro5107Ser					OBSCN_ENST00000366709.4_Missense_Mutation_p.P2226S|OBSCN_ENST00000366707.4_Missense_Mutation_p.P2741S|OBSCN_ENST00000422127.1_Missense_Mutation_p.P5107S|OBSCN_ENST00000284548.11_Missense_Mutation_p.P5107S	p.P6064S	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN			66	18264	+		Prostate(94;0.0405)	5107			Ig-like 52.		Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Missense_Mutation	SNP	ENST00000422127.1	37	c.18190C>T	CCDS58065.1	.	.	.	.	.	.	.	.	.	.	C	7.631	0.678766	0.14841	0.001695	0.0	ENSG00000154358	ENST00000284548;ENST00000422127;ENST00000366707;ENST00000366709	T;T;T;T	0.63913	0.37;-0.02;-0.07;0.45	4.75	1.63	0.23807	.	0.688080	0.13952	N	0.351427	T	0.43612	0.1255	L	0.29908	0.895	0.09310	N	1	B;B	0.32753	0.264;0.383	B;B	0.28849	0.044;0.095	T	0.21999	-1.0229	10	0.36615	T	0.2	.	6.3444	0.21341	0.0:0.5653:0.2754:0.1593	.	5107;5107	Q5VST9;Q5VST9-3	OBSCN_HUMAN;.	S	5107;5107;2741;2226	ENSP00000284548:P5107S;ENSP00000409493:P5107S;ENSP00000355668:P2741S;ENSP00000355670:P2226S	ENSP00000284548:P5107S	P	+	1	0	OBSCN	226576484	0.003000	0.15002	0.079000	0.20413	0.003000	0.03518	0.971000	0.29396	0.438000	0.26450	-0.145000	0.13849	CCT		0.597	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843		4	37	0	0	0	0.009096	0	4	37					T	228509861	C	T	228509861	3	4	174	1	0	0	0	0	1	0	0	0	10812	855	30	3	15533	3	OBSCN	1	228509861	Missense_Mutation	SNP	C	TCGA-G9-6378-01A-11D-1786-08	50240704	228509861	20740760	6	8226											
NRP2	8828	broad.mit.edu	37	chr2	206562286	206562286	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agacccaccgtgcggaggtcGtttgaattccaaagatgctg	10	9	12	10	3	0	3	0	1	0	2	2	4	1	4	3	2	2	2	3	2	2	2			TCGA-G9-6378-01A-11D-1786-08	TCGA-G9-6378-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e0102ae-f348-417d-b442-b660a411fd1a	812bc9a9-75fc-4ab0-99d7-8e2d45c17f4c	g.chr2:206562286G>A	ENST00000357785.5	+	2	123	c.92G>A	c.(91-93)cGt>cAt	p.R31H	NRP2_ENST00000412873.2_Missense_Mutation_p.R31H|NRP2_ENST00000360409.3_Missense_Mutation_p.R31H|NRP2_ENST00000357118.4_Missense_Mutation_p.R31H|NRP2_ENST00000417189.1_Missense_Mutation_p.R31H|NRP2_ENST00000272849.3_Missense_Mutation_p.R31H|NRP2_ENST00000540178.1_Missense_Mutation_p.R31H|NRP2_ENST00000355117.4_Missense_Mutation_p.R31H|NRP2_ENST00000540841.1_Missense_Mutation_p.R31H			Q99435	NELL2_HUMAN	neuropilin 2	0						extracellular region (GO:0005576)	calcium ion binding (GO:0005509)	p.R31H(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(14)|lung(19)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	52						TGCGGAGGTCGTTTGAATTCC	0.517																																						ENST00000360409.3																			2	Substitution - Missense(2)	p.R31H(2)	large_intestine(1)|prostate(1)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(14)|lung(19)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	52						c.(91-93)cGt>cAt		neuropilin 2							306	292	296					2																	206562286		2203	4300	6503	SO:0001583	missense	8828				angiogenesis|axon guidance|cell adhesion	integral to membrane|membrane fraction|plasma membrane	heparin binding|metal ion binding|semaphorin receptor activity|vascular endothelial growth factor receptor activity	g.chr2:206562286G>A	AF016098	CCDS2364.1, CCDS2365.1, CCDS46496.1, CCDS46497.1, CCDS46498.1, CCDS46499.1	2q33.3	2008-05-23			ENSG00000118257	ENSG00000118257			8005	protein-coding gene	gene with protein product		602070				9529250, 9331348	Standard	NM_003872		Approved	VEGF165R2	uc002vaw.3	O60462	OTTHUMG00000132893	ENST00000357785.5:c.92G>A	2.37:g.206562286G>A	ENSP00000350432:p.Arg31His					NRP2_ENST00000357118.4_Missense_Mutation_p.R31H|NRP2_ENST00000355117.4_Missense_Mutation_p.R31H|NRP2_ENST00000540178.1_Missense_Mutation_p.R31H|NRP2_ENST00000540841.1_Missense_Mutation_p.R31H|NRP2_ENST00000272849.3_Missense_Mutation_p.R31H|NRP2_ENST00000412873.2_Missense_Mutation_p.R31H|NRP2_ENST00000417189.1_Missense_Mutation_p.R31H|NRP2_ENST00000357785.5_Missense_Mutation_p.R31H	p.R31H	NM_003872.2|NM_201266.1|NM_201279.1	NP_003863.2|NP_957718.1|NP_958436.1	O60462	NRP2_HUMAN			2	883	+			31			CUB 1.		B7Z2U7|B7Z5Q4|B7Z9J5|B7Z9U3|Q96JS2	Missense_Mutation	SNP	ENST00000357785.5	37	c.92G>A	CCDS46496.1	.	.	.	.	.	.	.	.	.	.	G	10.64	1.407480	0.25378	.	.	ENSG00000118257	ENST00000340626;ENST00000360409;ENST00000540178;ENST00000540841;ENST00000355117;ENST00000450507;ENST00000417189;ENST00000357118;ENST00000357785;ENST00000412873;ENST00000272849	T;T;T;T;T;T;T;T;T;T	0.18657	2.2;2.2;2.2;2.2;2.2;2.2;2.2;2.2;2.2;2.2	5.37	3.58	0.41010	CUB (5);	0.396529	0.31268	N	0.007945	T	0.20577	0.0495	N	0.03050	-0.425	0.37990	D	0.933888	B;B;D;B;B;B	0.76494	0.022;0.04;0.999;0.265;0.265;0.05	B;B;D;B;B;B	0.76071	0.007;0.007;0.987;0.022;0.022;0.004	T	0.31779	-0.9931	10	0.40728	T	0.16	-8.3327	11.8798	0.52568	0.142:0.0:0.858:0.0	.	31;31;31;31;31;31	O60462-2;O60462-3;O60462;O60462-4;O60462-5;E9PF66	.;.;NRP2_HUMAN;.;.;.	H	31	ENSP00000353582:R31H;ENSP00000439658:R31H;ENSP00000439261:R31H;ENSP00000347238:R31H;ENSP00000404279:R31H;ENSP00000387519:R31H;ENSP00000349632:R31H;ENSP00000350432:R31H;ENSP00000407626:R31H;ENSP00000272849:R31H	ENSP00000272849:R31H	R	+	2	0	NRP2	206270531	0.120000	0.22244	0.888000	0.34837	0.882000	0.50991	2.630000	0.46494	0.640000	0.30582	-0.136000	0.14681	CGT		0.517	NRP2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000336467.1			24	462	0	0	0	0.116897	0	24	462					A	206562286	G	A	206562286	3	1	174	1	0	0	0	0	1	0	0	0	10661	1145	40	1	98	1	NRP2	2	206562286	Missense_Mutation	SNP	G	TCGA-G9-6378-01A-11D-1786-08		206562286	36637087	7	8227											
ABCB6	10058	broad.mit.edu	37	chr2	220081146	220081146	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacgtaactggtaacagtccAggccagagagttccaaggtg	12	7	13	9	1	0	1	0	0	0	1	2	3	2	1	3	3	2	3	3	3	3	3			TCGA-G9-6378-01A-11D-1786-08	TCGA-G9-6378-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e0102ae-f348-417d-b442-b660a411fd1a	812bc9a9-75fc-4ab0-99d7-8e2d45c17f4c	g.chr2:220081146A>G	ENST00000265316.3	-	4	1226	c.910T>C	c.(910-912)Tgg>Cgg	p.W304R	ABCB6_ENST00000439002.2_Missense_Mutation_p.W258R	NM_005689.2	NP_005680.1	Q9NP58	ABCB6_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 6 (Langereis blood group)	304	ABC transmembrane type-1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				brain development (GO:0007420)|cellular iron ion homeostasis (GO:0006879)|heme transport (GO:0015886)|porphyrin-containing compound biosynthetic process (GO:0006779)|skin development (GO:0043588)|transmembrane transport (GO:0055085)|transport (GO:0006810)	ATP-binding cassette (ABC) transporter complex (GO:0043190)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of mitochondrial outer membrane (GO:0031307)|mitochondrial envelope (GO:0005740)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|efflux transmembrane transporter activity (GO:0015562)|heme binding (GO:0020037)|heme transporter activity (GO:0015232)|heme-transporting ATPase activity (GO:0015439)	p.W304R(2)		breast(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	34		Renal(207;0.0474)		Epithelial(149;1.22e-06)|all cancers(144;0.000201)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GTAACAGTCCAGGCCAGAGAG	0.547																																						ENST00000265316.3																			2	Substitution - Missense(2)	p.W304R(2)	prostate(2)	breast(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	34						c.(910-912)Tgg>Cgg		ATP-binding cassette, sub-family B (MDR/TAP), member 6							99	108	105					2																	220081146		2203	4300	6503	SO:0001583	missense	10058				cadmium ion transmembrane transport|cellular iron ion homeostasis|detoxification of cadmium ion|porphyrin biosynthetic process	ATP-binding cassette (ABC) transporter complex|Golgi apparatus|integral to mitochondrial outer membrane|plasma membrane|vacuolar membrane	ATP binding|efflux transmembrane transporter activity|heme binding|heme-transporting ATPase activity	g.chr2:220081146A>G	AF070598	CCDS2436.1	2q36	2014-08-27	2014-08-27		ENSG00000115657	ENSG00000115657		"ATP binding cassette transporters / subfamily B"	47	protein-coding gene	gene with protein product	"ATP-binding cassette half-transporter"	605452	"ATP-binding cassette, sub-family B (MDR/TAP), member 6"			8894702, 9110174	Standard	NM_005689		Approved	EST45597, umat, MTABC3	uc002vkc.2	Q9NP58	OTTHUMG00000133131	ENST00000265316.3:c.910T>C	2.37:g.220081146A>G	ENSP00000265316:p.Trp304Arg					ABCB6_ENST00000439002.2_Missense_Mutation_p.W258R	p.W304R	NM_005689.2	NP_005680.1	Q9NP58	ABCB6_HUMAN		Epithelial(149;1.22e-06)|all cancers(144;0.000201)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	4	1226	-		Renal(207;0.0474)	304			ABC transmembrane type-1.		O75542|Q49A66|Q59GQ5|Q6ZME6|Q96ME8|Q9HAQ6|Q9HAQ7	Missense_Mutation	SNP	ENST00000265316.3	37	c.910T>C	CCDS2436.1	.	.	.	.	.	.	.	.	.	.	A	11.71	1.720077	0.30503	.	.	ENSG00000115657	ENST00000265316;ENST00000439002	D;D	0.94138	-3.36;-2.48	5.17	3.88	0.44766	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.602858	0.17818	N	0.160961	D	0.86657	0.5985	L	0.34521	1.04	0.80722	D	1	B;B	0.06786	0.0;0.001	B;B	0.13407	0.005;0.009	T	0.77819	-0.2446	10	0.25106	T	0.35	-3.4059	5.206	0.15291	0.6829:0.15:0.1671:0.0	.	258;304	Q9NP58-4;Q9NP58	.;ABCB6_HUMAN	R	304;258	ENSP00000265316:W304R;ENSP00000394333:W258R	ENSP00000265316:W304R	W	-	1	0	ABCB6	219789390	0.979000	0.34478	1.000000	0.80357	0.998000	0.95712	0.785000	0.26830	0.865000	0.35603	0.528000	0.53228	TGG		0.547	ABCB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256820.2	NM_005689		16	46	0	0	0	0.038395	0	16	46					G	220081146	A	G	220081146	3	3	174	1	0	0	0	0	1	0	0	0	45	188	7	4	1682	4	ABCB6	2	220081146	Missense_Mutation	SNP	A	TCGA-G9-6378-01A-11D-1786-08	13518860	220081146	23118227	8	8228											
GRM7	2917	broad.mit.edu	37	chr3	7721859	7721859	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctgaactcaatgtccagaaaCggaagcgaagcttcaaggcg	14	6	11	10	3	2	2	2	1	0	1	3	4	3	3	1	2	4	1	1	2	6	1			TCGA-G9-6378-01A-11D-1786-08	TCGA-G9-6378-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e0102ae-f348-417d-b442-b660a411fd1a	812bc9a9-75fc-4ab0-99d7-8e2d45c17f4c	g.chr3:7721859C>T	ENST00000357716.4	+	9	2849	c.2575C>T	c.(2575-2577)Cgg>Tgg	p.R859W	GRM7_ENST00000389336.4_Missense_Mutation_p.R859W|GRM7_ENST00000403881.1_Missense_Mutation_p.R859W|GRM7_ENST00000486284.1_Missense_Mutation_p.R859W|GRM7_ENST00000402647.2_Missense_Mutation_p.R859W	NM_000844.3	NP_000835.1	Q14831	GRM7_HUMAN	glutamate receptor, metabotropic 7	859					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|adult behavior (GO:0030534)|conditioned taste aversion (GO:0001661)|multicellular organismal response to stress (GO:0033555)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of cAMP biosynthetic process (GO:0030818)|negative regulation of glutamate secretion (GO:0014050)|regulation of cyclase activity (GO:0031279)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of smell (GO:0007608)|sensory perception of sound (GO:0007605)|short-term memory (GO:0007614)|synaptic transmission (GO:0007268)|transmission of nerve impulse (GO:0019226)	asymmetric synapse (GO:0032279)|axon (GO:0030424)|cell cortex (GO:0005938)|dendrite (GO:0030425)|dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)|receptor complex (GO:0043235)	adenylate cyclase inhibitor activity (GO:0010855)|calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|glutamate binding (GO:0016595)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)|PDZ domain binding (GO:0030165)|serine binding (GO:0070905)|voltage-gated calcium channel activity (GO:0005245)	p.R859W(1)		breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76						TGTCCAGAAACGGAAGCGAAG	0.512																																						ENST00000486284.1																			1	Substitution - Missense(1)	p.R859W(1)	prostate(1)	breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76						c.(2575-2577)Cgg>Tgg		glutamate receptor, metabotropic 7	L-Glutamic Acid(DB00142)						98	82	87					3																	7721859		2203	4300	6503	SO:0001583	missense	2917				negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission	asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone	adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding	g.chr3:7721859C>T	U92458	CCDS43042.1	3p26-p25	2014-06-12			ENSG00000196277	ENSG00000196277		"GPCR / Class C : Glutamate receptors, metabotropic", "Glutamate receptors"	4599	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 87"	604101				8288585, 8840028	Standard	NM_000844		Approved	GLUR7, GPRC1G, mGlu7, MGLUR7, PPP1R87	uc003bql.2	Q14831	OTTHUMG00000125549	ENST00000357716.4:c.2575C>T	3.37:g.7721859C>T	ENSP00000350348:p.Arg859Trp					GRM7_ENST00000389336.4_Missense_Mutation_p.R859W|GRM7_ENST00000402647.2_Missense_Mutation_p.R859W|GRM7_ENST00000357716.4_Missense_Mutation_p.R859W|GRM7_ENST00000403881.1_Missense_Mutation_p.R859W	p.R859W	NM_181874.2	NP_870989.1	Q14831	GRM7_HUMAN			9	2849	+			859					Q8NFS2|Q8NFS3|Q8NFS4	Missense_Mutation	SNP	ENST00000357716.4	37	c.2575C>T	CCDS43042.1	.	.	.	.	.	.	.	.	.	.	C	17.15	3.315363	0.60524	.	.	ENSG00000196277	ENST00000357716;ENST00000486284;ENST00000389336;ENST00000403881;ENST00000525747;ENST00000402647	D;D;D;D;D	0.90069	-2.57;-2.61;-2.6;-2.6;-2.61	5.17	3.09	0.35607	GPCR, family 3, C-terminal (1);	0.112900	0.64402	D	0.000020	D	0.92977	0.7765	M	0.71206	2.165	0.51767	D	0.999934	D;D;D;P	0.89917	1.0;1.0;1.0;0.615	D;D;D;B	0.80764	0.994;0.973;0.985;0.17	D	0.92647	0.6129	10	0.45353	T	0.12	.	13.7227	0.62737	0.3281:0.6719:0.0:0.0	.	859;614;859;859	Q14831-5;Q59G95;Q14831;Q14831-2	.;.;GRM7_HUMAN;.	W	859	ENSP00000350348:R859W;ENSP00000417536:R859W;ENSP00000373987:R859W;ENSP00000385664:R859W;ENSP00000384585:R859W	ENSP00000350348:R859W	R	+	1	2	GRM7	7696859	0.996000	0.38824	1.000000	0.80357	0.994000	0.84299	0.494000	0.22467	1.316000	0.45131	-0.203000	0.12734	CGG		0.512	GRM7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000246895.3	NM_000844		4	89	0	0	0	0.014758	0	4	89					T	7721859	C	T	7721859	3	4	174	1	0	0	0	0	1	0	0	0	6802	527	19	1	2609	1	GRM7	3	7721859	Missense_Mutation	SNP	C	TCGA-G9-6378-01A-11D-1786-08		7721859	190300571	9	8229											
ANKRD56	345079	broad.mit.edu	37	chr4	77818628	77818629	+	In_Frame_Ins	INS	-	-	CGC																															cctcctccggctccttctcgINScgccgccgccgcctgggctg																								rs546249358	byFrequency	TCGA-G9-6378-01A-11D-1786-08	TCGA-G9-6378-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e0102ae-f348-417d-b442-b660a411fd1a	812bc9a9-75fc-4ab0-99d7-8e2d45c17f4c	g.chr4:77818628_77818629insCGC	ENST00000334306.2	-	1	373_374	c.374_375insGCG	c.(373-375)cgc>cgGCGc	p.125_125R>RR		NM_001029870.1	NP_001025041.1	A6NEL2	SWAHB_HUMAN	sosondowah ankyrin repeat domain family member B	125	Poly-Arg.																GCTCCTTCTCGCGCCGCCGCCG	0.792														52	0.0103834	0.0363	0.0043	5008	,	,		8648	0		0.001	False		,,,				2504	0					ENST00000334306.2																			0											c.(373-375)cga>cGCGga		sosondowah ankyrin repeat domain family member B																																				SO:0001652	inframe_insertion	345079							g.chr4:77818628_77818629insCGC		CCDS34017.1	4q21.1	2013-01-10	2012-01-12	2012-01-12	ENSG00000186212	ENSG00000186212		"Ankyrin repeat domain containing"	32958	protein-coding gene	gene with protein product			"ankyrin repeat domain 56"	ANKRD56		22234889	Standard	NM_001029870		Approved		uc003hki.3	A6NEL2	OTTHUMG00000160876	ENST00000334306.2:c.375_377dupGCG	4.37:g.77818635_77818637dupCGC	ENSP00000334879:p.Arg125dup						p.125_126insG	NM_001029870.1	NP_001025041.1	A6NEL2	ANR56_HUMAN			1	373_374	-			125			Poly-Arg.		B2RP29	In_Frame_Ins	INS	ENST00000334306.2	37	c.374_375insGCG	CCDS34017.1																																																																																				0.792	SOWAHB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362762.1	NM_001029870		3	3						3	3	---	---	---	---	CGC	77818629	-	CGC	77818628	7	5	174	1	0	1	1	0	0	0	0	0	682	1074	38	0	2010	0	ANKRD56	4	77818628	In_Frame_Ins	INS	-	TCGA-G9-6378-01A-11D-1786-08		77818628	113335648	10	8230											
PRSS48	345062	broad.mit.edu	37	chr4	152201037	152201037	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggcaggtcagcctacactttGaccacaactttatctgtgga	10	11	9	11	0	2	1	1	1	1	0	2	2	2	2	2	3	3	1	2	3	3	4			TCGA-G9-6378-01A-11D-1786-08	TCGA-G9-6378-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e0102ae-f348-417d-b442-b660a411fd1a	812bc9a9-75fc-4ab0-99d7-8e2d45c17f4c	g.chr4:152201037G>A	ENST00000455694.2	+	2	144	c.142G>A	c.(142-144)Gac>Aac	p.D48N	SH3D19_ENST00000604030.1_Intron|PRSS48_ENST00000441586.2_Intron	NM_183375.2	NP_899231.2	Q7RTY5	PRS48_HUMAN	protease, serine, 48	48	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)	p.D60N(1)|p.D48N(1)		kidney(1)|large_intestine(2)|lung(2)|prostate(2)|urinary_tract(1)	8						CCTACACTTTGACCACAACTT	0.542																																						ENST00000455694.2																			2	Substitution - Missense(2)	p.D60N(1)|p.D48N(1)	prostate(2)	kidney(1)|large_intestine(2)|lung(2)|prostate(2)|urinary_tract(1)	8						c.(142-144)Gac>Aac		protease, serine, 48							135	127	130					4																	152201037		1994	4171	6165	SO:0001583	missense	345062				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr4:152201037G>A	BN000134	CCDS47145.1	4q31.3	2010-05-07			ENSG00000189099	ENSG00000189099		"Serine peptidases / Serine peptidases"	24635	protein-coding gene	gene with protein product						12838346	Standard	NM_183375		Approved	ESSPL	uc011cif.2	Q7RTY5	OTTHUMG00000161673	ENST00000455694.2:c.142G>A	4.37:g.152201037G>A	ENSP00000401328:p.Asp48Asn					PRSS48_ENST00000441586.2_Intron|SH3D19_ENST00000604030.1_Intron	p.D48N	NM_183375.2	NP_899231.2	Q7RTY5	PRS48_HUMAN			2	144	+			48			Peptidase S1.		Q08E82|Q0VAD4	Missense_Mutation	SNP	ENST00000455694.2	37	c.142G>A	CCDS47145.1	.	.	.	.	.	.	.	.	.	.	g	1.793	-0.478971	0.04414	.	.	ENSG00000189099	ENST00000455694	D	0.88277	-2.36	5.2	-3.51	0.04696	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	1.477710	0.04978	N	0.465072	T	0.69975	0.3171	N	0.04148	-0.265	0.19300	N	0.99998	B	0.06786	0.001	B	0.09377	0.004	T	0.57985	-0.7716	10	0.18710	T	0.47	.	1.4325	0.02336	0.1828:0.3475:0.1469:0.3228	.	48	Q7RTY5	PRS48_HUMAN	N	48	ENSP00000401328:D48N	ENSP00000401328:D48N	D	+	1	0	PRSS48	152420487	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.840000	0.04363	-0.652000	0.05408	-0.219000	0.12488	GAC		0.542	PRSS48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365685.3	NM_183375		22	153	0	0	0	0.062417	0	22	153					A	152201037	G	A	152201037	3	1	174	1	0	0	0	0	1	0	0	0	12630	1290	45	3	148	3	PRSS48	4	152201037	Missense_Mutation	SNP	G	TCGA-G9-6378-01A-11D-1786-08	74382409	152201037	38953239	11	8231											
GPR98	84059	broad.mit.edu	37	chr5	90106488	90106488	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gcaggaatggatatttccttCcccgagacaactgtggctgt	9	11	11	10	1	0	1	0	0	0	1	2	4	2	3	3	3	1	2	3	3	3	3			TCGA-G9-6378-01A-11D-1786-08	TCGA-G9-6378-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e0102ae-f348-417d-b442-b660a411fd1a	812bc9a9-75fc-4ab0-99d7-8e2d45c17f4c	g.chr5:90106488C>T	ENST00000405460.2	+	74	15507	c.15411C>T	c.(15409-15411)ttC>ttT	p.F5137F	GPR98_ENST00000425867.2_Silent_p.F798F	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	5137					detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)	p.F5137F(1)		NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		ATATTTCCTTCCCCGAGACAA	0.443																																						ENST00000405460.2																			1	Substitution - coding silent(1)	p.F5137F(1)	prostate(1)	NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269						c.(15409-15411)ttC>ttT		G protein-coupled receptor 98							173	171	172					5																	90106488		1957	4154	6111	SO:0001819	synonymous_variant	84059				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr5:90106488C>T	AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"-", "GPCR / Class B : Orphans"	17416	protein-coding gene	gene with protein product		602851	"monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.15411C>T	5.37:g.90106488C>T						GPR98_ENST00000425867.2_Silent_p.F798F	p.F5137F	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)	74	15507	+		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)	5137					O75171|Q8TF58|Q9H0X5|Q9UL61	Silent	SNP	ENST00000405460.2	37	c.15411C>T	CCDS47246.1																																																																																				0.443	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2	NM_032119		48	300	0	0	0	0.139131	0	48	300					T	90106488	C	T	90106488	2	4	174	1	0	0	0	0	0	0	0	1	6721	854	30	3		3	GPR98	5	90106488	Silent	SNP	C	TCGA-G9-6378-01A-11D-1786-08		90106488	90808772	12	8232											
RELL2	285613	broad.mit.edu	37	chr5	141017909	141017909	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttcatgatctgccacgtgctCaagaagaagggctaccgctg	10	9	11	11	2	3	3	2	1	1	2	3	3	3	3	2	1	3	3	2	1	4	2			TCGA-G9-6378-01A-11D-1786-08	TCGA-G9-6378-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e0102ae-f348-417d-b442-b660a411fd1a	812bc9a9-75fc-4ab0-99d7-8e2d45c17f4c	g.chr5:141017909C>G	ENST00000297164.3	+	1	1317	c.117C>G	c.(115-117)ctC>ctG	p.L39L	RELL2_ENST00000521367.1_Intron|FCHSD1_ENST00000523856.1_5'Flank|RELL2_ENST00000518856.1_Intron|HDAC3_ENST00000305264.3_5'Flank|RELL2_ENST00000518025.1_3'UTR|RELL2_ENST00000444782.1_Silent_p.L39L	NM_173828.4	NP_776189.3	Q8NC24	RELL2_HUMAN	RELT-like 2	39					positive regulation of cell-substrate adhesion (GO:0010811)	basement membrane (GO:0005604)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.L39L(1)		large_intestine(2)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	9			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCCACGTGCTCAAGAAGAAGG	0.597																																						ENST00000297164.3																			1	Substitution - coding silent(1)	p.L39L(1)	prostate(1)	large_intestine(2)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	9						c.(115-117)ctC>ctG		RELT-like 2							139	130	133					5																	141017909		2203	4300	6503	SO:0001819	synonymous_variant	285613					integral to membrane|plasma membrane		g.chr5:141017909C>G	AK054889	CCDS4265.1	5q31.3	2011-10-11	2007-06-15	2007-06-15	ENSG00000164620	ENSG00000164620			26902	protein-coding gene	gene with protein product		611213	"chromosome 5 open reading frame 16"	C5orf16		12975309, 16389068	Standard	NM_173828		Approved	FLJ90583	uc003lli.3	Q8NC24	OTTHUMG00000129612	ENST00000297164.3:c.117C>G	5.37:g.141017909C>G						RELL2_ENST00000518025.1_3'UTR|RELL2_ENST00000518856.1_Intron|RELL2_ENST00000521367.1_Intron|RELL2_ENST00000444782.1_Silent_p.L39L	p.L39L	NM_173828.4	NP_776189.3	Q8NC24	RELL2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1317	+			39					D3DQE2|Q6P4E7|Q6UXY2	Silent	SNP	ENST00000297164.3	37	c.117C>G	CCDS4265.1																																																																																				0.597	RELL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251807.2	NM_173828		6	158	0	0	0	0.021553	0	6	158					G	141017909	C	G	141017909	2	3	174	1	0	0	0	0	0	0	0	1	13219	813	29	5		5	RELL2	5	141017909	Silent	SNP	C	TCGA-G9-6378-01A-11D-1786-08	50911421	141017909	39897351	13	8233											
STK19	8859	broad.mit.edu	37	chr6	31940215	31940215	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tggaagaggcatcacctgatCccggagacctttggagttaa	11	9	12	9	1	1	3	1	1	0	2	2	6	2	5	3	4	0	2	3	4	2	2			TCGA-G9-6378-01A-11D-1786-08	TCGA-G9-6378-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e0102ae-f348-417d-b442-b660a411fd1a	812bc9a9-75fc-4ab0-99d7-8e2d45c17f4c	g.chr6:31940215C>T	ENST00000375333.2	+	2	410	c.357C>T	c.(355-357)atC>atT	p.I119I	DXO_ENST00000375356.3_5'Flank|DXO_ENST00000337523.5_5'Flank|STK19_ENST00000463823.1_3'UTR|DXO_ENST00000478221.1_5'Flank|STK19_ENST00000375331.2_Silent_p.I119I|DXO_ENST00000375349.3_5'Flank	NM_032454.1	NP_115830.1	P49842	STK19_HUMAN	serine/threonine kinase 19	119					protein phosphorylation (GO:0006468)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.I119I(1)		skin(5)|upper_aerodigestive_tract(2)	7						ATCACCTGATCCCGGAGACCT	0.597																																						ENST00000375331.2																			1	Substitution - coding silent(1)	p.I119I(1)	prostate(1)	skin(5)|upper_aerodigestive_tract(2)	7						c.(355-357)atC>atT		serine/threonine kinase 19							64	74	70					6																	31940215		1511	2709	4220	SO:0001819	synonymous_variant	8859					nucleus	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr6:31940215C>T	X77474	CCDS4733.1, CCDS34417.1	6p21.33	2011-09-15			ENSG00000204344	ENSG00000204344			11398	protein-coding gene	gene with protein product		604977				8012361, 9812991	Standard	NM_032454		Approved	D6S60, G11, RP1	uc003nyv.3	P49842	OTTHUMG00000166424	ENST00000375333.2:c.357C>T	6.37:g.31940215C>T						STK19_ENST00000463823.1_3'UTR|STK19_ENST00000375333.2_Silent_p.I119I	p.I119I	NM_004197.1	NP_004188.1	P49842	STK19_HUMAN			2	523	+			119					A6NF95|A6NFW8|B0QZR5|Q13159|Q31617|Q5JP77|Q5ST72|Q5ST75	Silent	SNP	ENST00000375333.2	37	c.357C>T	CCDS4733.1																																																																																				0.597	STK19-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000076484.3			15	119	0	0	0	0.043863	0	15	119					T	31940215	C	T	31940215	2	4	174	1	0	0	0	0	0	0	0	1	15291	845	30	3		3	STK19	6	31940215	Silent	SNP	C	TCGA-G9-6378-01A-11D-1786-08		31940215	139174852	14	8234											
PPT2	9374	broad.mit.edu	37	chr6	32122416	32122416	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctccccgcggcgtgggtcctGcttctgttgcctttcctgcc	0	13	11	17	3	1	0	0	0	1	0	4	0	4	0	6	2	3	2	6	2	0	3			TCGA-G9-6378-01A-11D-1786-08	TCGA-G9-6378-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e0102ae-f348-417d-b442-b660a411fd1a	812bc9a9-75fc-4ab0-99d7-8e2d45c17f4c	g.chr6:32122416G>A	ENST00000324816.6	+	2	613	c.45G>A	c.(43-45)ctG>ctA	p.L15L	PPT2_ENST00000437001.2_5'UTR|PRRT1_ENST00000375150.2_5'Flank|PPT2-EGFL8_ENST00000453656.2_3'UTR|PPT2_ENST00000493548.1_3'UTR|PRRT1_ENST00000375152.2_5'Flank|PPT2_ENST00000361568.2_Silent_p.L21L|PPT2_ENST00000395523.1_Silent_p.L15L|PRRT1_ENST00000211413.5_5'Flank|PPT2-EGFL8_ENST00000422437.1_Silent_p.L15L|PPT2_ENST00000375137.2_Silent_p.L15L|PPT2_ENST00000375143.2_Silent_p.L15L|PPT2_ENST00000445576.2_Silent_p.L15L			Q9UMR5	PPT2_HUMAN	palmitoyl-protein thioesterase 2	15					cellular protein modification process (GO:0006464)|macromolecule depalmitoylation (GO:0098734)	extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	palmitoyl hydrolase activity (GO:0098599)|palmitoyl-(protein) hydrolase activity (GO:0008474)|thiolester hydrolase activity (GO:0016790)	p.L21L(1)		NS(1)|endometrium(2)|large_intestine(2)|lung(10)|prostate(1)|urinary_tract(1)	17						CGTGGGTCCTGCTTCTGTTGC	0.672																																						ENST00000422437.1																			1	Substitution - coding silent(1)	p.L21L(1)	prostate(1)								c.(43-45)ctG>ctA									79	98	91					6																	32122416		1507	2706	4213	SO:0001819	synonymous_variant	0							g.chr6:32122416G>A	AF020543	CCDS4740.1, CCDS4742.1	6p21.3	2012-07-02			ENSG00000221988	ENSG00000221988	3.1.2.22		9326	protein-coding gene	gene with protein product		603298				9341199, 10051407	Standard	NM_138717		Approved		uc003nzw.3	Q9UMR5	OTTHUMG00000031257	ENST00000324816.6:c.45G>A	6.37:g.32122416G>A						PPT2_ENST00000493548.1_3'UTR|PPT2_ENST00000395523.1_Silent_p.L15L|PPT2_ENST00000445576.2_Silent_p.L15L|PPT2_ENST00000361568.2_Silent_p.L21L|PPT2-EGFL8_ENST00000453656.2_3'UTR|PPT2_ENST00000375143.2_Silent_p.L15L|PPT2_ENST00000375137.2_Silent_p.L15L|PPT2_ENST00000437001.2_5'UTR|PPT2_ENST00000324816.6_Silent_p.L15L	p.L15L							2	236	+								A2ABC9|A2ABD1|A2ARM7|A2BFH7|A2BFH9|A2BFI2|A8K9L4|B0S868|G8JLE1|O14799|Q0P6K0|Q5JP13|Q5JP14|Q5JQF0|Q5SSX4|Q5SSX5|Q5SSX6|Q5STJ4|Q5STJ5|Q5STJ6|Q6FI80|Q99945	Silent	SNP	ENST00000324816.6	37	c.45G>A	CCDS4742.1																																																																																				0.672	PPT2-207	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076552.4	NM_138717		32	152	0	0	0	0.144211	0	32	152					A	32122416	G	A	32122416	2	1	174	1	0	0	0	0	0	0	0	1	12412	1306	46	3		3	PPT2	6	32122416	Silent	SNP	G	TCGA-G9-6378-01A-11D-1786-08	182201	32122416	138992651	15	8235											
GPR115	221393	broad.mit.edu	37	chr6	47682279	47682279	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggtcccgggtggttgtgaCggagatatcatacatgcgtc	7	11	15	8	3	1	2	1	1	0	1	3	3	2	2	1	4	2	1	1	4	2	3	rs146828294		TCGA-G9-6378-01A-11D-1786-08	TCGA-G9-6378-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e0102ae-f348-417d-b442-b660a411fd1a	812bc9a9-75fc-4ab0-99d7-8e2d45c17f4c	g.chr6:47682279C>T	ENST00000283303.2	+	6	1556	c.1298C>T	c.(1297-1299)aCg>aTg	p.T433M	GPR115_ENST00000371220.1_Missense_Mutation_p.T490M|GPR115_ENST00000327753.3_Missense_Mutation_p.T433M|RN7SKP116_ENST00000516902.1_RNA	NM_153838.3	NP_722580.3	Q8IZF3	GP115_HUMAN	G protein-coupled receptor 115	433					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	52						GTGGTTGTGACGGAGATATCA	0.478													C|||	1	0.000199681	0	0	5008	,	,		22187	0.001		0	False		,,,				2504	0				GBM(22;431 510 9010 26644 32828)	ENST00000283303.2																			0				NS(1)|breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	52						c.(1297-1299)aCg>aTg		G protein-coupled receptor 115		C	MET/THR	1,4405	2.1+/-5.4	0,1,2202	204	180	188		1298	5.4	0.3	6	dbSNP_134	188	0,8600		0,0,4300	no	missense	GPR115	NM_153838.3	81	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	433/696	47682279	1,13005	2203	4300	6503	SO:0001583	missense	221393				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr6:47682279C>T	AK095395	CCDS4922.2	6p12.3	2014-08-08			ENSG00000153294	ENSG00000153294		"-", "GPCR / Class B : Orphans"	19011	protein-coding gene	gene with protein product		614268				12435584	Standard	NM_153838		Approved	FLJ38076, PGR18	uc003oza.1	Q8IZF3	OTTHUMG00000014800	ENST00000283303.2:c.1298C>T	6.37:g.47682279C>T	ENSP00000283303:p.Thr433Met					GPR115_ENST00000371220.1_Missense_Mutation_p.T490M|GPR115_ENST00000327753.3_Missense_Mutation_p.T433M	p.T433M	NM_153838.3	NP_722580.3	Q8IZF3	GP115_HUMAN			6	1556	+			433					B3KTD0|Q2PNZ0|Q5T5B5|Q5T5B6|Q86SN9|Q8IXE6	Missense_Mutation	SNP	ENST00000283303.2	37	c.1298C>T	CCDS4922.2	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	13.58	2.280783	0.40294	2.27E-4	0.0	ENSG00000153294	ENST00000371220;ENST00000327753;ENST00000283303	T;T;T	0.44083	0.93;0.93;0.93	5.45	5.45	0.79879	GPCR, family 2-like (1);	0.000000	0.85682	D	0.000000	T	0.64103	0.2568	M	0.83953	2.67	0.37310	D	0.909073	D	0.89917	1.0	D	0.91635	0.999	T	0.69273	-0.5188	10	0.72032	D	0.01	-13.8722	18.6292	0.91354	0.0:1.0:0.0:0.0	.	433	Q8IZF3	GP115_HUMAN	M	490;433;433	ENSP00000360264:T490M;ENSP00000328319:T433M;ENSP00000283303:T433M	ENSP00000283303:T433M	T	+	2	0	GPR115	47790238	0.985000	0.35326	0.275000	0.24674	0.107000	0.19398	2.720000	0.47252	2.721000	0.93114	0.655000	0.94253	ACG		0.478	GPR115-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040819.2	NM_153838		6	186	0	0	0	0.038147	0	6	186					T	47682279	C	T	47682279	3	4	174	1	0	0	0	0	1	0	0	0	6632	536	19	1	1316	1	GPR115	6	47682279	Missense_Mutation	SNP	C	TCGA-G9-6378-01A-11D-1786-08	15559863	47682279	123432788	16	8236											
INHBA	3624	broad.mit.edu	37	chr7	41739857	41739857	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cctttgggagggcggccagcGcacaggacggacagtcgggg	7	4	19	11	4	0	0	0	0	0	0	1	3	0	3	2	7	1	1	2	7	0	1	rs373520349		TCGA-G9-6378-01A-11D-1786-08	TCGA-G9-6378-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e0102ae-f348-417d-b442-b660a411fd1a	812bc9a9-75fc-4ab0-99d7-8e2d45c17f4c	g.chr7:41739857G>A	ENST00000242208.4	-	2	362	c.116C>T	c.(115-117)gCg>gTg	p.A39V	INHBA-AS1_ENST00000415848.2_RNA|INHBA-AS1_ENST00000422822.1_RNA|AC005027.3_ENST00000416150.1_RNA|INHBA-AS1_ENST00000420821.1_RNA|INHBA_ENST00000442711.1_Missense_Mutation_p.A39V	NM_002192.2	NP_002183.1	P08476	INHBA_HUMAN	inhibin, beta A	39					activin receptor signaling pathway (GO:0032924)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|cellular response to cholesterol (GO:0071397)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|defense response (GO:0006952)|endodermal cell differentiation (GO:0035987)|erythrocyte differentiation (GO:0030218)|extrinsic apoptotic signaling pathway (GO:0097191)|eyelid development in camera-type eye (GO:0061029)|G1/S transition of mitotic cell cycle (GO:0000082)|growth (GO:0040007)|hair follicle development (GO:0001942)|hematopoietic progenitor cell differentiation (GO:0002244)|hemoglobin biosynthetic process (GO:0042541)|male gonad development (GO:0008584)|mesodermal cell differentiation (GO:0048333)|negative regulation of B cell differentiation (GO:0045578)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of follicle-stimulating hormone secretion (GO:0046882)|negative regulation of interferon-gamma biosynthetic process (GO:0045077)|negative regulation of macrophage differentiation (GO:0045650)|negative regulation of phosphorylation (GO:0042326)|nervous system development (GO:0007399)|odontogenesis (GO:0042476)|ovarian follicle development (GO:0001541)|palate development (GO:0060021)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of follicle-stimulating hormone secretion (GO:0046881)|positive regulation of ovulation (GO:0060279)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|progesterone secretion (GO:0042701)|regulation of follicle-stimulating hormone secretion (GO:0046880)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to drug (GO:0042493)	activin A complex (GO:0043509)|extracellular region (GO:0005576)|inhibin A complex (GO:0043512)	cytokine activity (GO:0005125)|growth factor activity (GO:0008083)|hormone activity (GO:0005179)|identical protein binding (GO:0042802)|peptide hormone binding (GO:0017046)|type II activin receptor binding (GO:0070699)	p.A39V(1)		biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(15)|lung(26)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						GGCGGCCAGCGCACAGGACGG	0.577										TSP Lung(11;0.080)																												ENST00000242208.4																			1	Substitution - Missense(1)	p.A39V(1)	prostate(1)	biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(15)|lung(26)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						c.(115-117)gCg>gTg		inhibin, beta A							145	163	157					7																	41739857		2203	4300	6503	SO:0001583	missense	3624				cell cycle arrest|cell surface receptor linked signaling pathway|defense response|erythrocyte differentiation|eyelid development in camera-type eye|G1/S transition of mitotic cell cycle|growth|hair follicle development|hemoglobin biosynthetic process|hemopoietic progenitor cell differentiation|induction of apoptosis|male gonad development|negative regulation of B cell differentiation|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of follicle-stimulating hormone secretion|negative regulation of interferon-gamma biosynthetic process|negative regulation of macrophage differentiation|negative regulation of phosphorylation|nervous system development|odontogenesis|ovarian follicle development|palate development|positive regulation of erythrocyte differentiation|positive regulation of follicle-stimulating hormone secretion|positive regulation of ovulation|positive regulation of transcription from RNA polymerase II promoter|progesterone secretion|regulation of activin receptor signaling pathway	activin A complex|inhibin A complex	cytokine activity|follistatin binding|growth factor activity|hormone activity|identical protein binding|signal transducer activity	g.chr7:41739857G>A		CCDS5464.1	7p15-p13	2014-01-30	2007-07-30		ENSG00000122641	ENSG00000122641		"Endogenous ligands"	6066	protein-coding gene	gene with protein product		147290	"inhibin, beta A (activin A, activin AB alpha polypeptide)"			3345731	Standard	NM_002192		Approved		uc003thr.3	P08476	OTTHUMG00000023574	ENST00000242208.4:c.116C>T	7.37:g.41739857G>A	ENSP00000242208:p.Ala39Val	TSP Lung(11;0.080)				INHBA-AS1_ENST00000415848.2_RNA|AC005027.3_ENST00000416150.1_RNA|INHBA-AS1_ENST00000420821.1_RNA|INHBA-AS1_ENST00000422822.1_RNA|INHBA_ENST00000442711.1_Missense_Mutation_p.A39V	p.A39V	NM_002192.2	NP_002183.1	P08476	INHBA_HUMAN			2	362	-			39					Q14599	Missense_Mutation	SNP	ENST00000242208.4	37	c.116C>T	CCDS5464.1	.	.	.	.	.	.	.	.	.	.	G	29.9	5.046126	0.93740	.	.	ENSG00000122641	ENST00000242208;ENST00000442711	T;T	0.79247	-1.25;-1.25	5.36	5.36	0.76844	.	3.538020	0.01120	N	0.005762	D	0.88636	0.6490	L	0.53249	1.67	0.80722	D	1	D	0.89917	1.0	D	0.75020	0.985	T	0.74006	-0.3803	10	0.33141	T	0.24	-19.2049	19.0952	0.93248	0.0:0.0:1.0:0.0	.	39	P08476	INHBA_HUMAN	V	39	ENSP00000242208:A39V;ENSP00000397197:A39V	ENSP00000242208:A39V	A	-	2	0	INHBA	41706382	1.000000	0.71417	0.997000	0.53966	0.998000	0.95712	3.623000	0.54224	2.507000	0.84556	0.563000	0.77884	GCG		0.577	INHBA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250793.1			57	374	0	0	0	0.139131	0	57	374					A	41739857	G	A	41739857	3	1	174	1	0	0	0	0	1	0	0	0	7741	1087	38	1	1172	1	INHBA	7	41739857	Missense_Mutation	SNP	G	TCGA-G9-6378-01A-11D-1786-08		41739857	117398806	17	8237											
C7orf44	55744	broad.mit.edu	37	chr7	43687182	43687182	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcccccggcatagaacacacCgtggaaaaggatccttgctc	11	6	10	14	2	0	1	0	0	0	1	2	3	1	3	4	3	2	2	4	3	4	2	rs371645573		TCGA-G9-6378-01A-11D-1786-08	TCGA-G9-6378-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e0102ae-f348-417d-b442-b660a411fd1a	812bc9a9-75fc-4ab0-99d7-8e2d45c17f4c	g.chr7:43687182C>T	ENST00000395879.1	-	2	1748	c.67G>A	c.(67-69)Ggt>Agt	p.G23S	COA1_ENST00000395880.3_Missense_Mutation_p.G23S|COA1_ENST00000310564.6_Missense_Mutation_p.G23S|COA1_ENST00000223336.6_Missense_Mutation_p.G23S			Q9GZY4	COA1_HUMAN	cytochrome c oxidase assembly factor 1 homolog (S. cerevisiae)	23					mitochondrial respiratory chain complex I assembly (GO:0032981)|mitochondrial respiratory chain complex IV assembly (GO:0033617)	cytoplasm (GO:0005737)|integral component of mitochondrial inner membrane (GO:0031305)|mitochondrion (GO:0005739)		p.G23S(1)									TAGAACACACCGTGGAAAAGG	0.493																																						ENST00000395879.1																			1	Substitution - Missense(1)	p.G23S(1)	prostate(1)								c.(67-69)Ggt>Agt		cytochrome c oxidase assembly factor 1 homolog (S. cerevisiae)							73	76	75					7																	43687182		2203	4300	6503	SO:0001583	missense	55744							g.chr7:43687182C>T	AK001665	CCDS5471.1	7p13	2012-12-05	2012-10-15	2012-06-25	ENSG00000106603	ENSG00000106603		"Mitochondrial respiratory chain complex assembly factors"	21868	protein-coding gene	gene with protein product		614769	"chromosome 7 open reading frame 44"	C7orf44		22356826	Standard	NM_018224		Approved	FLJ10803, MITRAC15	uc003tin.2	Q9GZY4	OTTHUMG00000128949	ENST00000395879.1:c.67G>A	7.37:g.43687182C>T	ENSP00000379218:p.Gly23Ser					COA1_ENST00000395880.3_Missense_Mutation_p.G23S|COA1_ENST00000223336.6_Missense_Mutation_p.G23S|COA1_ENST00000310564.6_Missense_Mutation_p.G23S	p.G23S							2	1748	-								A6NJU8|A8KAH8|Q9HAB7|Q9NVD2	Missense_Mutation	SNP	ENST00000395879.1	37	c.67G>A	CCDS5471.1	.	.	.	.	.	.	.	.	.	.	T	1.467	-0.560970	0.03939	.	.	ENSG00000106603	ENST00000395879;ENST00000310564;ENST00000395880;ENST00000223336;ENST00000415798;ENST00000431651	T;T;T;T;T;T	0.32988	1.43;1.43;1.43;1.43;1.43;1.43	4.87	-6.87	0.01671	.	1.318910	0.04939	N	0.458307	T	0.13286	0.0322	N	0.04959	-0.14	0.09310	N	1	B	0.24043	0.096	B	0.15052	0.012	T	0.28586	-1.0039	10	0.18276	T	0.48	-11.6053	11.481	0.50326	0.0957:0.5761:0.0:0.3281	.	23	Q9GZY4	CG044_HUMAN	S	23	ENSP00000379218:G23S;ENSP00000312100:G23S;ENSP00000379219:G23S;ENSP00000223336:G23S;ENSP00000405582:G23S;ENSP00000417046:G23S	ENSP00000223336:G23S	G	-	1	0	C7orf44	43653707	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.240000	0.02914	-2.495000	0.00514	-3.352000	0.00042	GGT		0.493	COA1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313664.1	NM_018224		5	94	0	0	0	0.021553	0	5	94					T	43687182	C	T	43687182	3	4	174	1	0	0	0	0	1	0	0	0	2394	652	23	2	389	2	C7orf44	7	43687182	Missense_Mutation	SNP	C	TCGA-G9-6378-01A-11D-1786-08	1947325	43687182	115451481	18	8238											
ABCA13	154664	broad.mit.edu	37	chr7	48443343	48443343	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	acccgagctctgtctggaggCctgaagaggaagctctccct	8	8	12	13	1	3	2	0	1	3	1	4	5	3	4	3	3	2	2	3	3	2	0			TCGA-G9-6378-01A-11D-1786-08	TCGA-G9-6378-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e0102ae-f348-417d-b442-b660a411fd1a	812bc9a9-75fc-4ab0-99d7-8e2d45c17f4c	g.chr7:48443343C>A	ENST00000435803.1	+	39	11961	c.11937C>A	c.(11935-11937)ggC>ggA	p.G3979G		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	3979	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)	p.G3979G(2)|p.G3924G(1)		breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						TGTCTGGAGGCCTGAAGAGGA	0.527																																						ENST00000435803.1																			3	Substitution - coding silent(3)	p.G3979G(2)|p.G3924G(1)	prostate(3)	breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						c.(11935-11937)ggC>ggA		ATP-binding cassette, sub-family A (ABC1), member 13							107	107	107					7																	48443343		1969	4151	6120	SO:0001819	synonymous_variant	154664				transport	integral to membrane	ATP binding|ATPase activity	g.chr7:48443343C>A	AY204751	CCDS47584.1	7p12.3	2012-03-14			ENSG00000179869	ENSG00000179869		"ATP binding cassette transporters / subfamily A"	14638	protein-coding gene	gene with protein product		607807				12697998	Standard	NM_152701		Approved	FLJ33876, FLJ33951	uc003toq.2	Q86UQ4	OTTHUMG00000155840	ENST00000435803.1:c.11937C>A	7.37:g.48443343C>A							p.G3979G	NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN			39	11961	+			3979			ABC transporter 1.		K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Silent	SNP	ENST00000435803.1	37	c.11937C>A	CCDS47584.1																																																																																				0.527	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341964.2	NM_152701		10	42	1	0	1.58986e-06	0.069234	1.85484e-06	10	42					A	48443343	C	A	48443343	2	1	174	1	0	0	0	0	0	0	0	1	31	726	26	5		5	ABCA13	7	48443343	Silent	SNP	C	TCGA-G9-6378-01A-11D-1786-08	4756161	48443343	110695320	19	8239											
SGK223	157285	broad.mit.edu	37	chr8	8238940	8238940	+	Silent	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agcctcacctgcgagacttcGgcactcaggttggcctctgt	6	10	11	14	2	3	1	2	0	1	1	4	2	3	1	3	3	2	2	3	3	0	2	rs370861925		TCGA-G9-6378-01A-11D-1786-08	TCGA-G9-6378-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e0102ae-f348-417d-b442-b660a411fd1a	812bc9a9-75fc-4ab0-99d7-8e2d45c17f4c	g.chr8:8238940G>C	ENST00000520004.1	-	2	582	c.318C>G	c.(316-318)gcC>gcG	p.A106A	SGK223_ENST00000330777.4_Silent_p.A106A			Q86YV5	SG223_HUMAN		106							ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)	p.A106A(5)									GCGAGACTTCGGCACTCAGGT	0.562																																					GBM(34;731 755 10259 33573 33867)	ENST00000520004.1																			5	Substitution - coding silent(5)	p.A106A(5)	prostate(3)|kidney(2)								c.(316-318)gcC>gcG									83	81	82					8																	8238940		1996	4161	6157	SO:0001819	synonymous_variant	0						ATP binding|non-membrane spanning protein tyrosine kinase activity	g.chr8:8238940G>C																												ENST00000520004.1:c.318C>G	8.37:g.8238940G>C						SGK223_ENST00000330777.4_Silent_p.A106A	p.A106A			Q86YV5	SG223_HUMAN			2	582	-			106					Q8N3N5	Silent	SNP	ENST00000520004.1	37	c.318C>G	CCDS43706.1																																																																																				0.562	SGK223-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374864.1			14	75	0	0	0	0.11911	0	14	75					C	8238940	G	C	8238940	2	2	174	1	0	0	0	0	0	0	0	1	14210	1103	39	5		5	SGK223	8	8238940	Silent	SNP	G	TCGA-G9-6378-01A-11D-1786-08		8238940	138125082	20	8240											
IFNA13	3447	broad.mit.edu	37	chr9	21367472	21367472	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	taatctttcttgcaagtttgTtgataaagagagggatctca	12	15	9	5	0	3	2	1	1	3	1	4	4	3	3	0	1	1	3	0	1	4	6	rs373918648		TCGA-G9-6378-01A-11D-1786-08	TCGA-G9-6378-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e0102ae-f348-417d-b442-b660a411fd1a	812bc9a9-75fc-4ab0-99d7-8e2d45c17f4c	g.chr9:21367472T>C	ENST00000449498.1	-	1	603	c.538A>G	c.(538-540)Aca>Gca	p.T180A		NM_006900.3	NP_008831.3	P01562	IFNA1_HUMAN	interferon, alpha 13	179					adaptive immune response (GO:0002250)|B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|natural killer cell activation involved in immune response (GO:0002323)|positive regulation of peptidyl-serine phosphorylation of STAT protein (GO:0033141)|regulation of MHC class I biosynthetic process (GO:0045343)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to exogenous dsRNA (GO:0043330)|T cell activation involved in immune response (GO:0002286)|type I interferon signaling pathway (GO:0060337)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	cytokine activity (GO:0005125)|type I interferon receptor binding (GO:0005132)	p.T180A(1)|p.T179A(1)		breast(2)|large_intestine(2)|lung(1)|ovary(2)|prostate(1)|skin(1)	9				Lung(24;7.66e-27)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.0173)		TGCAAGTTTGTTGATAAAGAG	0.408																																						ENST00000449498.1																			2	Substitution - Missense(2)	p.T180A(1)|p.T179A(1)	prostate(2)	breast(2)|large_intestine(2)|lung(1)|ovary(2)|prostate(1)|skin(1)	9						c.(538-540)Aca>Gca		interferon, alpha 13							141	135	137					9																	21367472		2203	4300	6503	SO:0001583	missense	3447				blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|interferon-alpha/beta receptor binding	g.chr9:21367472T>C		CCDS6505.2	9p22	2010-12-10			ENSG00000233816	ENSG00000233816		"Interferons"	5419	protein-coding gene	gene with protein product		147578				1385305	Standard	NM_006900		Approved		uc003zpa.2	P01562	OTTHUMG00000019675	ENST00000449498.1:c.538A>G	9.37:g.21367472T>C	ENSP00000394494:p.Thr180Ala						p.T180A	NM_006900.3	NP_008831.3	P01562	IFNA1_HUMAN		Lung(24;7.66e-27)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.0173)	1	603	-			179					D4Q9M8|Q14605|Q2M1L8|Q52LB8|Q5VYQ2|Q7M4Q1|Q8WZ68|Q9UMJ3	Missense_Mutation	SNP	ENST00000449498.1	37	c.538A>G	CCDS6505.2	.	.	.	.	.	.	.	.	.	.	T	7.514	0.655222	0.14580	.	.	ENSG00000233816	ENST00000449498	T	0.03386	3.95	2.46	-3.13	0.05266	.	1.261530	0.05343	N	0.530527	T	0.04724	0.0128	L	0.50847	1.595	0.09310	N	1	B	0.02656	0.0	B	0.11329	0.006	T	0.44314	-0.9336	10	0.35671	T	0.21	.	8.2879	0.31939	0.0:0.5606:0.0:0.4394	.	180	E9PB07	.	A	180	ENSP00000394494:T180A	ENSP00000394494:T180A	T	-	1	0	IFNA13	21357472	0.000000	0.05858	0.000000	0.03702	0.634000	0.38068	-0.277000	0.08502	-0.796000	0.04456	0.260000	0.18958	ACA		0.408	IFNA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051904.2	NM_006900		30	155	0	0	0	0.117977	0	30	155					C	21367472	T	C	21367472	3	2	174	1	0	0	0	0	1	0	0	0	7533	1725	60	4	38	4	IFNA13	9	21367472	Missense_Mutation	SNP	T	TCGA-G9-6378-01A-11D-1786-08		21367472	119845959	21	8241											
FAM69B	138311	broad.mit.edu	37	chr9	139617909	139617909	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cacccgaggccaccgtgcgcCgcttcctgcagggccgccgc	4	4	13	20	6	0	0	0	0	0	0	1	1	1	0	7	2	2	2	7	2	0	1			TCGA-G9-6378-01A-11D-1786-08	TCGA-G9-6378-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e0102ae-f348-417d-b442-b660a411fd1a	812bc9a9-75fc-4ab0-99d7-8e2d45c17f4c	g.chr9:139617909C>T	ENST00000371692.4	+	5	1075	c.979C>T	c.(979-981)Cgc>Tgc	p.R327C	SNHG7_ENST00000447221.1_RNA|SNHG7_ENST00000414282.1_RNA|SNHG7_ENST00000416970.1_RNA|FAM69B_ENST00000371691.1_Missense_Mutation_p.R240C|SNHG7_ENST00000362567.2_RNA|SNHG7_ENST00000436596.1_RNA	NM_152421.3	NP_689634.2	Q5VUD6	FA69B_HUMAN	family with sequence similarity 69, member B	327						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)		p.R327C(1)		NS(1)|endometrium(3)|large_intestine(2)|lung(1)|prostate(1)	8	all_cancers(76;0.0882)|all_epithelial(76;0.228)	Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;1.03e-05)|Epithelial(140;0.00013)		CACCGTGCGCCGCTTCCTGCA	0.667																																						ENST00000371691.1																			1	Substitution - Missense(1)	p.R327C(1)	prostate(1)	NS(1)|endometrium(3)|large_intestine(2)|lung(1)|prostate(1)	8						c.(718-720)Cgc>Tgc		family with sequence similarity 69, member B							19	19	19					9																	139617909		2200	4296	6496	SO:0001583	missense	138311					endoplasmic reticulum membrane|integral to membrane		g.chr9:139617909C>T		CCDS7004.1	9q34.3	2012-08-03			ENSG00000165716	ENSG00000165716			28290	protein-coding gene	gene with protein product		614543				21334309	Standard	NM_152421		Approved	MGC20262, C9orf136	uc004cik.3	Q5VUD6	OTTHUMG00000020940	ENST00000371692.4:c.979C>T	9.37:g.139617909C>T	ENSP00000360757:p.Arg327Cys					FAM69B_ENST00000371692.4_Missense_Mutation_p.R327C|SNHG7_ENST00000414282.1_RNA	p.R240C			Q5VUD6	FA69B_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.03e-05)|Epithelial(140;0.00013)	3	1817	+	all_cancers(76;0.0882)|all_epithelial(76;0.228)	Myeloproliferative disorder(178;0.0821)	327					Q5VUD7|Q8N5N0|Q8WYU5	Missense_Mutation	SNP	ENST00000371692.4	37	c.718C>T	CCDS7004.1	.	.	.	.	.	.	.	.	.	.	C	25.9	4.682754	0.88542	.	.	ENSG00000165716	ENST00000371692;ENST00000371691	T;T	0.48522	0.81;0.82	5.29	2.25	0.28309	.	0.335739	0.33253	N	0.005109	T	0.52964	0.1767	L	0.59436	1.845	0.40621	D	0.981769	D	0.76494	0.999	P	0.57679	0.825	T	0.55373	-0.8151	10	0.59425	D	0.04	-46.6412	6.976	0.24674	0.2552:0.4197:0.325:0.0	.	327	Q5VUD6	FA69B_HUMAN	C	327;240	ENSP00000360757:R327C;ENSP00000360756:R240C	ENSP00000360756:R240C	R	+	1	0	FAM69B	138737730	1.000000	0.71417	0.996000	0.52242	0.951000	0.60555	3.514000	0.53422	1.199000	0.43173	0.561000	0.74099	CGC		0.667	FAM69B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055102.1	NM_152421		5	31	0	0	0	0.014758	0	5	31					T	139617909	C	T	139617909	3	4	174	1	0	0	0	0	1	0	0	0	5603	652	23	2	997	2	FAM69B	9	139617909	Missense_Mutation	SNP	C	TCGA-G9-6378-01A-11D-1786-08	118250437	139617909	1595522	22	8242											
FAM166A	401565	broad.mit.edu	37	chr9	140140297	140140297	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	agcgcagctgcggaaagaagCcggcatagctgtggagggaa	12	4	17	8	3	0	1	0	0	0	1	0	4	0	4	1	4	5	4	1	4	4	1	rs571101141		TCGA-G9-6378-01A-11D-1786-08	TCGA-G9-6378-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e0102ae-f348-417d-b442-b660a411fd1a	812bc9a9-75fc-4ab0-99d7-8e2d45c17f4c	g.chr9:140140297C>T	ENST00000344774.4	-	2	119	c.65G>A	c.(64-66)gGc>gAc	p.G22D	FAM166A_ENST00000388932.2_Missense_Mutation_p.G22D	NM_001001710.1	NP_001001710.1	Q6J272	F166A_HUMAN	family with sequence similarity 166, member A	22						nucleus (GO:0005634)		p.G22D(1)		kidney(3)|lung(7)|ovary(2)|prostate(1)|urinary_tract(2)	15						CGGAAAGAAGCCGGCATAGCT	0.632																																						ENST00000344774.4																			1	Substitution - Missense(1)	p.G22D(1)	prostate(1)	kidney(3)|lung(7)|ovary(2)|prostate(1)|urinary_tract(2)	15						c.(64-66)gGc>gAc		family with sequence similarity 166, member A							26	27	26					9																	140140297		2202	4298	6500	SO:0001583	missense	401565							g.chr9:140140297C>T	BC132916	CCDS35186.1	9q34.3	2008-08-08			ENSG00000188163	ENSG00000188163			33818	protein-coding gene	gene with protein product							Standard	XR_245332		Approved		uc004cmi.1	Q6J272	OTTHUMG00000159545	ENST00000344774.4:c.65G>A	9.37:g.140140297C>T	ENSP00000344729:p.Gly22Asp					FAM166A_ENST00000388932.2_Missense_Mutation_p.G22D	p.G22D	NM_001001710.1	NP_001001710.1	Q6J272	F166A_HUMAN			2	119	-			22					A6NND9|Q8N830	Missense_Mutation	SNP	ENST00000344774.4	37	c.65G>A	CCDS35186.1	.	.	.	.	.	.	.	.	.	.	C	17.36	3.370412	0.61624	.	.	ENSG00000188163	ENST00000344774;ENST00000388932;ENST00000484720	T;T;T	0.75154	-0.91;-0.91;-0.91	5.1	4.19	0.49359	.	0.000000	0.64402	D	0.000001	D	0.84243	0.5429	M	0.85197	2.74	0.80722	D	1	D	0.55385	0.971	P	0.59546	0.859	D	0.86637	0.1889	10	0.87932	D	0	-32.3692	11.7137	0.51639	0.0:0.9126:0.0:0.0874	.	22	Q6J272	F166A_HUMAN	D	22	ENSP00000344729:G22D;ENSP00000373584:G22D;ENSP00000420741:G22D	ENSP00000344729:G22D	G	-	2	0	FAM166A	139260118	1.000000	0.71417	0.996000	0.52242	0.455000	0.32408	3.214000	0.51161	2.362000	0.80069	0.462000	0.41574	GGC		0.632	FAM166A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356125.1	NM_001001710		3	43	0	0	0	0.115264	0	3	43					T	140140297	C	T	140140297	3	4	174	1	0	0	0	0	1	0	0	0	5481	739	26	3	912	3	FAM166A	9	140140297	Missense_Mutation	SNP	C	TCGA-G9-6378-01A-11D-1786-08	522388	140140297	1073134	23	8243											
KLC2	64837	broad.mit.edu	37	chr11	66026227	66026227	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggcgaagccgagcctggctcGcaggagcgctgcatcctcct	6	6	14	15	4	0	0	0	0	0	0	3	3	2	1	4	3	4	4	4	3	1	0			TCGA-G9-6378-01A-11D-1786-08	TCGA-G9-6378-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e0102ae-f348-417d-b442-b660a411fd1a	812bc9a9-75fc-4ab0-99d7-8e2d45c17f4c	g.chr11:66026227G>T	ENST00000417856.1	+	2	405	c.162G>T	c.(160-162)tcG>tcT	p.S54S	KLC2_ENST00000394066.2_Silent_p.S54S|KLC2_ENST00000394078.1_Silent_p.S54S|KLC2_ENST00000394065.2_5'Flank|KLC2_ENST00000316924.5_Silent_p.S54S|RP11-755F10.3_ENST00000533576.1_RNA|KLC2_ENST00000421552.1_Silent_p.S54S|KLC2_ENST00000394067.2_Silent_p.S54S	NM_001134775.1	NP_001128247.1	Q9H0B6	KLC2_HUMAN	kinesin light chain 2	54					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon cargo transport (GO:0008088)|blood coagulation (GO:0007596)|microtubule-based movement (GO:0007018)	ciliary rootlet (GO:0035253)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinesin I complex (GO:0016938)|membrane (GO:0016020)|microtubule (GO:0005874)|neuron projection (GO:0043005)|protein complex (GO:0043234)	kinesin binding (GO:0019894)|microtubule motor activity (GO:0003777)	p.S54S(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	24						AGCCTGGCTCGCAGGAGCGCT	0.667											OREG0021097	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000417856.1																			1	Substitution - coding silent(1)	p.S54S(1)	prostate(1)	breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	24						c.(160-162)tcG>tcT		kinesin light chain 2							32	35	34					11																	66026227		2198	4294	6492	SO:0001819	synonymous_variant	64837				blood coagulation	cytosol|kinesin complex|microtubule	microtubule motor activity|protein binding	g.chr11:66026227G>T	AK022449	CCDS8130.1, CCDS44653.1	11q13.1	2013-01-10			ENSG00000174996	ENSG00000174996		"Tetratricopeptide (TTC) repeat domain containing"	20716	protein-coding gene	gene with protein product		611729				9624122	Standard	NM_022822		Approved	FLJ12387	uc001ohb.2	Q9H0B6	OTTHUMG00000133757	ENST00000417856.1:c.162G>T	11.37:g.66026227G>T			OREG0021097	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1088	KLC2_ENST00000421552.1_Silent_p.S54S|KLC2_ENST00000394078.1_Silent_p.S54S|KLC2_ENST00000394066.2_Silent_p.S54S|KLC2_ENST00000394067.2_Silent_p.S54S|KLC2_ENST00000316924.5_Silent_p.S54S	p.S54S	NM_001134775.1	NP_001128247.1	Q9H0B6	KLC2_HUMAN			2	405	+			54					A8MXL7|B2RDY4|Q9H9C8|Q9HA20	Silent	SNP	ENST00000417856.1	37	c.162G>T	CCDS8130.1																																																																																				0.667	KLC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258200.1	NM_022822		5	61	1	0	0.00198382	0.02938	0.00211831	5	61					T	66026227	G	T	66026227	2	4	174	1	0	0	0	0	0	0	0	1	8334	1074	38	5		5	KLC2	11	66026227	Silent	SNP	G	TCGA-G9-6378-01A-11D-1786-08		66026227	68980289	24	8244											
ITPR2	3709	broad.mit.edu	37	chr12	26864155	26864156	+	Frame_Shift_Ins	INS	-	-	T																															atgcttaaatctgaacaagcINStgttccactgtcctgcaccc																										TCGA-G9-6378-01A-11D-1786-08	TCGA-G9-6378-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e0102ae-f348-417d-b442-b660a411fd1a	812bc9a9-75fc-4ab0-99d7-8e2d45c17f4c	g.chr12:26864155_26864156insT	ENST00000381340.3	-	9	1317_1318	c.901_902insA	c.(901-903)agcfs	p.S301fs		NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	301	MIR 4. {ECO:0000255|PROSITE- ProRule:PRU00131}.				activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|cellular response to cAMP (GO:0071320)|cellular response to ethanol (GO:0071361)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|regulation of insulin secretion (GO:0050796)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	cell cortex (GO:0005938)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|receptor complex (GO:0043235)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion transmembrane transporter activity (GO:0015085)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|phosphatidylinositol binding (GO:0035091)		ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)				Caffeine(DB00201)	TCTGAACAAGCTGTTCCACTGT	0.416																																						ENST00000381340.3																		ETV6/ITPR2(2)	0				biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125						c.(901-903)cttfs		inositol 1,4,5-trisphosphate receptor, type 2																																				SO:0001589	frameshift_variant	3709				activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity	g.chr12:26864155_26864156insT	D26350	CCDS41764.1	12p11.23	2014-07-18	2011-04-28		ENSG00000123104	ENSG00000123104		"Ion channels / Inositol triphosphate receptors"	6181	protein-coding gene	gene with protein product	"cilia and flagella associated protein 48"	600144	"inositol 1,4,5-triphosphate receptor, type 2"			8081734	Standard	XM_006719064		Approved	IP3R2, CFAP48	uc001rhg.3	Q14571	OTTHUMG00000169181	ENST00000381340.3:c.902dupA	12.37:g.26864156_26864156dupT	ENSP00000370744:p.Ser301fs						p.L301fs	NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN			9	1317_1318	-	Colorectal(261;0.0847)		301			MIR 4.		O94773	Frame_Shift_Ins	INS	ENST00000381340.3	37	c.901_902insA	CCDS41764.1																																																																																				0.416	ITPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402732.1	NM_002223		7	74						7	74	---	---	---	---	T	26864156	-	T	26864155	7	5	174	1	0	1	1	0	0	0	0	0	7921	797	28	0	7399	0	ITPR2	12	26864155	Frame_Shift_Ins	INS	-	TCGA-G9-6378-01A-11D-1786-08		26864155	106987740	25	8245											
NCKAP5L	57701	broad.mit.edu	37	chr12	50186731	50186731	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtctgggggtgggaaggtccCaatgccactgtccaaggttc	7	9	15	10	0	1	0	0	0	1	0	4	1	3	1	3	5	1	1	3	5	3	1			TCGA-G9-6378-01A-11D-1786-08	TCGA-G9-6378-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e0102ae-f348-417d-b442-b660a411fd1a	812bc9a9-75fc-4ab0-99d7-8e2d45c17f4c	g.chr12:50186731C>T	ENST00000335999.6	-	11	3580	c.3379G>A	c.(3379-3381)Ggg>Agg	p.G1127R		NM_001037806.3	NP_001032895.2	Q9HCH0	NCK5L_HUMAN	NCK-associated protein 5-like	1123	Pro-rich.							p.G1127R(1)|p.G718R(1)		central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(8)|prostate(2)	18						GGGAAGGTCCCAATGCCACTG	0.652																																						ENST00000335999.6																			2	Substitution - Missense(2)	p.G1127R(1)|p.G718R(1)	prostate(2)	central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(8)|prostate(2)	18						c.(3379-3381)Ggg>Agg		NCK-associated protein 5-like							12	13	13					12																	50186731		1936	4036	5972	SO:0001583	missense	57701							g.chr12:50186731C>T	AB046822	CCDS41781.2	12q13.12	2009-08-14	2009-08-14	2009-08-14	ENSG00000167566	ENSG00000167566			29321	protein-coding gene	gene with protein product		615104	"KIAA1602"	KIAA1602			Standard	NM_001037806		Approved		uc009zlk.2	Q9HCH0	OTTHUMG00000156969	ENST00000335999.6:c.3379G>A	12.37:g.50186731C>T	ENSP00000337998:p.Gly1127Arg						p.G1127R	NM_001037806.3	NP_001032895.2	Q9HCH0	NCK5L_HUMAN			11	3580	-			1123			Pro-rich.		Q2TB26|Q71RH1|Q8N4W1|Q96HX2	Missense_Mutation	SNP	ENST00000335999.6	37	c.3379G>A	CCDS41781.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	23.1|23.1	4.373726|4.373726	0.82573|0.82573	.|.	.|.	ENSG00000167566|ENSG00000167566	ENST00000335999;ENST00000354423|ENST00000433948	T|.	0.75154|.	-0.91|.	4.05|4.05	4.05|4.05	0.47172|0.47172	.|.	0.000000|.	0.42964|.	D|.	0.000629|.	T|.	0.63367|.	0.2505|.	L|L	0.54323|0.54323	1.7|1.7	0.58432|0.58432	D|D	0.999997|0.999997	D;D;D|.	0.89917|.	1.0;1.0;1.0|.	D;D;D|.	0.97110|.	1.0;0.998;0.998|.	T|.	0.61763|.	-0.6996|.	10|.	0.87932|.	D|.	0|.	-20.4616|-20.4616	13.6342|13.6342	0.62213|0.62213	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	1101;1123;1123|.	E2QRB5;Q9HCH0;Q9HCH0-2|.	.;NCK5L_HUMAN;.|.	R|X	1127;1101|841	ENSP00000337998:G1127R|.	ENSP00000337998:G1127R|.	G|W	-|-	1|2	0|0	NCKAP5L|NCKAP5L	48472998|48472998	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	6.543000|6.543000	0.73874|0.73874	2.280000|2.280000	0.76307|0.76307	0.561000|0.561000	0.74099|0.74099	GGG|TGG		0.652	NCKAP5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346884.2	XM_035497		6	19	0	0	0	0.038147	0	6	19					T	50186731	C	T	50186731	3	4	174	1	0	0	0	0	1	0	0	0	10224	594	21	3	637	3	NCKAP5L	12	50186731	Missense_Mutation	SNP	C	TCGA-G9-6378-01A-11D-1786-08	23322576	50186731	83665164	26	8246											
TRHDE	29953	broad.mit.edu	37	chr12	72680634	72680634	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgaggaagatggatgggttaCggatcacttttcacagaccc	11	10	12	8	1	2	3	2	1	0	2	2	6	2	6	1	4	1	1	1	4	2	3			TCGA-G9-6378-01A-11D-1786-08	TCGA-G9-6378-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e0102ae-f348-417d-b442-b660a411fd1a	812bc9a9-75fc-4ab0-99d7-8e2d45c17f4c	g.chr12:72680634C>T	ENST00000261180.4	+	2	1049	c.953C>T	c.(952-954)aCg>aTg	p.T318M		NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	318					cell-cell signaling (GO:0007267)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.T318M(3)		NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						GGATGGGTTACGGATCACTTT	0.413																																						ENST00000261180.4																			3	Substitution - Missense(3)	p.T318M(3)	large_intestine(1)|lung(1)|endometrium(1)	NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						c.(952-954)aCg>aTg		thyrotropin-releasing hormone degrading enzyme							157	147	151					12																	72680634		2203	4300	6503	SO:0001583	missense	29953				cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding	g.chr12:72680634C>T	AF126372	CCDS9004.1	12q15-q21	2012-07-25		2005-08-09		ENSG00000072657	3.4.19.6		30748	protein-coding gene	gene with protein product	"pyroglutamyl-peptidase II", "pyroglutamyl aminopeptidase II", "TRH-specific aminopeptidase"	606950				10491199, 12975309	Standard	NM_013381		Approved	PGPEP2, TRH-DE, PAP-II	uc001sxa.3	Q9UKU6		ENST00000261180.4:c.953C>T	12.37:g.72680634C>T	ENSP00000261180:p.Thr318Met						p.T318M	NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN			2	1049	+			318					A5PL19|Q6UWJ4	Missense_Mutation	SNP	ENST00000261180.4	37	c.953C>T	CCDS9004.1	.	.	.	.	.	.	.	.	.	.	C	19.06	3.753464	0.69648	.	.	ENSG00000072657	ENST00000261180	T	0.05025	3.51	6.17	6.17	0.99709	Peptidase M1, membrane alanine aminopeptidase, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.22627	0.0546	L	0.49256	1.55	0.58432	D	0.999999	D	0.89917	1.0	D	0.71414	0.973	T	0.00002	-1.2612	10	0.56958	D	0.05	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	318	Q9UKU6	TRHDE_HUMAN	M	318	ENSP00000261180:T318M	ENSP00000261180:T318M	T	+	2	0	TRHDE	70966901	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.089000	0.71384	2.941000	0.99782	0.655000	0.94253	ACG		0.413	TRHDE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405380.1	NM_013381		6	157	0	0	0	0.021553	0	6	157					T	72680634	C	T	72680634	3	4	174	1	0	0	0	0	1	0	0	0	16476	536	19	1	959	1	TRHDE	12	72680634	Missense_Mutation	SNP	C	TCGA-G9-6378-01A-11D-1786-08	22493903	72680634	61171261	27	8247											
NBEA	26960	broad.mit.edu	37	chr13	35733542	35733542	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gatgatatggatttatcaccGgagactttagtaggtggaga	12	12	13	4	1	1	3	1	1	0	2	1	7	1	4	1	4	0	1	1	4	4	6	rs182518188	byFrequency	TCGA-G9-6378-01A-11D-1786-08	TCGA-G9-6378-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e0102ae-f348-417d-b442-b660a411fd1a	812bc9a9-75fc-4ab0-99d7-8e2d45c17f4c	g.chr13:35733542G>A	ENST00000400445.3	+	22	3768	c.3234G>A	c.(3232-3234)ccG>ccA	p.P1078P	NBEA_ENST00000540320.1_Silent_p.P1078P|NBEA_ENST00000379939.2_Silent_p.P1078P|NBEA_ENST00000310336.4_Silent_p.P1078P	NM_015678.4	NP_056493.3	Q8NFP9	NBEA_HUMAN	neurobeachin	1078					protein localization (GO:0008104)	cytosol (GO:0005829)|endomembrane system (GO:0012505)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)				NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		ATTTATCACCGGAGACTTTAG	0.403													G|||	3	0.000599042	0	0.0029	5008	,	,		8257	0		0.001	False		,,,				2504	0					ENST00000540320.1																			0				NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108						c.(3232-3234)ccG>ccA		neurobeachin		G		1,3749		0,1,1874	124	119	120		3234	-5.2	1	13		120	3,8211		0,3,4104	no	coding-synonymous	NBEA	NM_015678.4		0,4,5978	AA,AG,GG		0.0365,0.0267,0.0334		1078/2947	35733542	4,11960	1875	4107	5982	SO:0001819	synonymous_variant	26960					cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding	g.chr13:35733542G>A	AF467288	CCDS45026.1, CCDS55894.1	13q13	2014-09-17			ENSG00000172915	ENSG00000172915		"A-kinase anchor proteins", "WD repeat domain containing"	7648	protein-coding gene	gene with protein product		604889				10501977	Standard	NM_015678		Approved	KIAA1544, BCL8B, FLJ10197	uc021ric.1	Q8NFP9	OTTHUMG00000016724	ENST00000400445.3:c.3234G>A	13.37:g.35733542G>A						NBEA_ENST00000400445.3_Silent_p.P1078P|NBEA_ENST00000379939.2_Silent_p.P1078P|NBEA_ENST00000310336.4_Silent_p.P1078P	p.P1078P			Q8NFP9	NBEA_HUMAN		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)	22	3768	+		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)	1078					B7Z2H9|Q5T320|Q9HCM8|Q9NSU1|Q9NW98|Q9Y6J1	Silent	SNP	ENST00000400445.3	37	c.3234G>A	CCDS45026.1																																																																																				0.403	NBEA-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_015678		3	63	0	0	0	0.009096	0	3	63					A	35733542	G	A	35733542	2	1	174	1	0	0	0	0	0	0	0	1	10187	1103	39	2		2	NBEA	13	35733542	Silent	SNP	G	TCGA-G9-6378-01A-11D-1786-08		35733542	79436336	28	8248											
ZFYVE26	23503	broad.mit.edu	37	chr14	68220894	68220894	+	Missense_Mutation	SNP	G	G	T																															cgcaccgatgcaagaacctgGtcacttccatctgcagctga																										TCGA-G9-6378-01A-11D-1786-08	TCGA-G9-6378-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e0102ae-f348-417d-b442-b660a411fd1a	812bc9a9-75fc-4ab0-99d7-8e2d45c17f4c	g.chr14:68220894G>T	ENST00000347230.4	-	38	7160	c.7022C>A	c.(7021-7023)aCc>aAc	p.T2341N	ZFYVE26_ENST00000557306.1_Missense_Mutation_p.T187N|RN7SL213P_ENST00000463482.2_RNA	NM_015346.3	NP_056161.2	Q68DK2	ZFY26_HUMAN	zinc finger, FYVE domain containing 26	2341					cell death (GO:0008219)|cytokinesis (GO:0000910)|double-strand break repair via homologous recombination (GO:0000724)	centrosome (GO:0005813)|lysosomal membrane (GO:0005765)|midbody (GO:0030496)	metal ion binding (GO:0046872)|phosphatidylinositol-3-phosphate binding (GO:0032266)	p.T2341N(1)		NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	94				all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)		CAAGAACCTGGTCACTTCCAT	0.527																																						ENST00000347230.4																			1	Substitution - Missense(1)	p.T2341N(1)	prostate(1)	NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	94						c.(7021-7023)aCc>aAc		zinc finger, FYVE domain containing 26							170	164	166					14																	68220894		2203	4300	6503	SO:0001583	missense	23503				cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination	centrosome|midbody	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding	g.chr14:68220894G>T	AB002319	CCDS9788.1	14q23.3	2012-11-23				ENSG00000072121		"Zinc fingers, FYVE domain containing"	20761	protein-coding gene	gene with protein product	"spastizin", "FYVE-CENT"	612012	"spastic paraplegia 15 (complicated, autosomal recessive)"	SPG15		9205841, 18394578	Standard	NM_015346		Approved	KIAA0321	uc001xka.2	Q68DK2		ENST00000347230.4:c.7022C>A	14.37:g.68220894G>T	ENSP00000251119:p.Thr2341Asn					ZFYVE26_ENST00000557306.1_Missense_Mutation_p.T187N	p.T2341N	NM_015346.3	NP_056161.2	Q68DK2	ZFY26_HUMAN		all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)	38	7160	-			2341					B1B5Y3|B4E2U3|O15035|Q68DT9|Q6AW90|Q6ZR50|Q7Z3A4|Q7Z3I1|Q8N4W7	Missense_Mutation	SNP	ENST00000347230.4	37	c.7022C>A	CCDS9788.1	.	.	.	.	.	.	.	.	.	.	G	32	5.183193	0.94885	.	.	ENSG00000072121	ENST00000347230;ENST00000411699;ENST00000557306	T;T	0.50548	1.52;0.74	5.81	5.81	0.92471	.	0.000000	0.85682	D	0.000000	T	0.69486	0.3116	M	0.68593	2.085	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.997	T	0.68773	-0.5320	10	0.56958	D	0.05	-22.4496	20.0787	0.97763	0.0:0.0:1.0:0.0	.	187;2341	Q96H43;Q68DK2	.;ZFY26_HUMAN	N	2341;2320;187	ENSP00000251119:T2341N;ENSP00000452142:T187N	ENSP00000251119:T2341N	T	-	2	0	ZFYVE26	67290647	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.572000	0.98179	2.757000	0.94681	0.462000	0.41574	ACC		0.527	ZFYVE26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412736.2	NM_015346		27	188	1	0	1.77063e-15	0.108266	2.18725e-15	27	188					T	68220894	G	T	68220894	3	4	174	1	0	0	0	0	1	0	0	0	17665	1261	44	5	617	5	ZFYVE26	14	68220894	Missense_Mutation	SNP	G	TCGA-G9-6378-01A-11D-1786-08		68220894	39128646	29	8249	47	2									
ZFYVE26	23503	broad.mit.edu	37	chr14	68220896	68220896	+	Silent	SNP	C	C	A																															caccgatgcaagaacctggtCacttccatctgcagctgaag																										TCGA-G9-6378-01A-11D-1786-08	TCGA-G9-6378-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e0102ae-f348-417d-b442-b660a411fd1a	812bc9a9-75fc-4ab0-99d7-8e2d45c17f4c	g.chr14:68220896C>A	ENST00000347230.4	-	38	7158	c.7020G>T	c.(7018-7020)gtG>gtT	p.V2340V	ZFYVE26_ENST00000557306.1_Silent_p.V186V|RN7SL213P_ENST00000463482.2_RNA	NM_015346.3	NP_056161.2	Q68DK2	ZFY26_HUMAN	zinc finger, FYVE domain containing 26	2340					cell death (GO:0008219)|cytokinesis (GO:0000910)|double-strand break repair via homologous recombination (GO:0000724)	centrosome (GO:0005813)|lysosomal membrane (GO:0005765)|midbody (GO:0030496)	metal ion binding (GO:0046872)|phosphatidylinositol-3-phosphate binding (GO:0032266)	p.V2340V(1)		NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	94				all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)		AGAACCTGGTCACTTCCATCT	0.522																																						ENST00000347230.4																			1	Substitution - coding silent(1)	p.V2340V(1)	prostate(1)	NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	94						c.(7018-7020)gtG>gtT		zinc finger, FYVE domain containing 26							168	163	165					14																	68220896		2203	4300	6503	SO:0001819	synonymous_variant	23503				cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination	centrosome|midbody	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding	g.chr14:68220896C>A	AB002319	CCDS9788.1	14q23.3	2012-11-23				ENSG00000072121		"Zinc fingers, FYVE domain containing"	20761	protein-coding gene	gene with protein product	"spastizin", "FYVE-CENT"	612012	"spastic paraplegia 15 (complicated, autosomal recessive)"	SPG15		9205841, 18394578	Standard	NM_015346		Approved	KIAA0321	uc001xka.2	Q68DK2		ENST00000347230.4:c.7020G>T	14.37:g.68220896C>A						ZFYVE26_ENST00000557306.1_Silent_p.V186V	p.V2340V	NM_015346.3	NP_056161.2	Q68DK2	ZFY26_HUMAN		all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)	38	7158	-			2340					B1B5Y3|B4E2U3|O15035|Q68DT9|Q6AW90|Q6ZR50|Q7Z3A4|Q7Z3I1|Q8N4W7	Silent	SNP	ENST00000347230.4	37	c.7020G>T	CCDS9788.1																																																																																				0.522	ZFYVE26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412736.2	NM_015346		26	187	1	0	2.79863e-10	0.099896	3.39065e-10	26	187					A	68220896	C	A	68220896	2	1	174	1	0	0	0	0	0	0	0	1	17665	813	29	5		5	ZFYVE26	14	68220896	Silent	SNP	C	TCGA-G9-6378-01A-11D-1786-08	2	68220896	39128644	30	8250	47	2									
LRRC57	255252	broad.mit.edu	37	chr15	42839684	42839684	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgattgttgtttaggcttagCgtctctagttttttcagatt	6	21	9	5	1	2	2	1	1	1	1	3	2	2	2	0	1	1	4	0	1	3	10			TCGA-G9-6378-01A-11D-1786-08	TCGA-G9-6378-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e0102ae-f348-417d-b442-b660a411fd1a	812bc9a9-75fc-4ab0-99d7-8e2d45c17f4c	g.chr15:42839684C>A	ENST00000323443.2	-	3	634	c.267G>T	c.(265-267)acG>acT	p.T89T	LRRC57_ENST00000397130.3_Silent_p.T89T|HAUS2_ENST00000260372.3_5'Flank|HAUS2_ENST00000568876.1_5'Flank|LRRC57_ENST00000563454.1_Silent_p.T89T|HAUS2_ENST00000568846.2_5'Flank			Q8N9N7	LRC57_HUMAN	leucine rich repeat containing 57	89						extracellular vesicular exosome (GO:0070062)		p.T89T(1)		breast(1)|kidney(1)|lung(5)|prostate(1)	8		all_cancers(109;1.99e-12)|all_epithelial(112;5.11e-11)|Lung NSC(122;4.53e-07)|all_lung(180;1.64e-06)|Melanoma(134;0.0262)		GBM - Glioblastoma multiforme(94;6.87e-07)		TTAGGCTTAGCGTCTCTAGTT	0.438																																						ENST00000323443.2																			1	Substitution - coding silent(1)	p.T89T(1)	prostate(1)	breast(1)|kidney(1)|lung(5)|prostate(1)	8						c.(265-267)acG>acT		leucine rich repeat containing 57							90	86	87					15																	42839684		2203	4299	6502	SO:0001819	synonymous_variant	255252							g.chr15:42839684C>A	AK094891	CCDS10089.1	15q15.1	2006-02-13			ENSG00000180979	ENSG00000180979			26719	protein-coding gene	gene with protein product							Standard	NM_153260		Approved	FLJ36812	uc001zqc.3	Q8N9N7	OTTHUMG00000130679	ENST00000323443.2:c.267G>T	15.37:g.42839684C>A						LRRC57_ENST00000563454.1_Silent_p.T89T|LRRC57_ENST00000397130.3_Silent_p.T89T	p.T89T			Q8N9N7	LRC57_HUMAN		GBM - Glioblastoma multiforme(94;6.87e-07)	3	634	-		all_cancers(109;1.99e-12)|all_epithelial(112;5.11e-11)|Lung NSC(122;4.53e-07)|all_lung(180;1.64e-06)|Melanoma(134;0.0262)	89					Q7Z2Z6|Q8N1T6	Silent	SNP	ENST00000323443.2	37	c.267G>T	CCDS10089.1																																																																																				0.438	LRRC57-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253174.1	NM_153260		14	95	1	0	0.000219431	0.11911	0.000242529	14	95					A	42839684	C	A	42839684	2	1	174	1	0	0	0	0	0	0	0	1	9013	755	27	5		5	LRRC57	15	42839684	Silent	SNP	C	TCGA-G9-6378-01A-11D-1786-08		42839684	59691708	31	8251											
GLDN	342035	broad.mit.edu	37	chr15	51676022	51676022	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttgccaggacacaacggattGgatggacagcctggtcctca	10	8	12	11	1	1	0	1	0	0	0	2	4	2	4	3	5	3	0	3	5	1	2			TCGA-G9-6378-01A-11D-1786-08	TCGA-G9-6378-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e0102ae-f348-417d-b442-b660a411fd1a	812bc9a9-75fc-4ab0-99d7-8e2d45c17f4c	g.chr15:51676022G>A	ENST00000335449.6	+	4	530	c.474G>A	c.(472-474)ttG>ttA	p.L158L	GLDN_ENST00000396399.2_Silent_p.L34L	NM_181789.2	NP_861454.2	Q6ZMI3	GLDN_HUMAN	gliomedin	158	Collagen-like 1.				clustering of voltage-gated sodium channels (GO:0045162)|heterotypic cell-cell adhesion (GO:0034113)|microvillus organization (GO:0032528)	collagen trimer (GO:0005581)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.L158L(1)		central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19				all cancers(107;0.00194)|GBM - Glioblastoma multiforme(94;0.00942)		ACAACGGATTGGATGGACAGC	0.433																																						ENST00000335449.6																			1	Substitution - coding silent(1)	p.L158L(1)	prostate(1)	central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19						c.(472-474)ttG>ttA		gliomedin							40	43	42					15																	51676022		2196	4293	6489	SO:0001819	synonymous_variant	342035				cell differentiation|nervous system development	collagen|integral to membrane|plasma membrane		g.chr15:51676022G>A	AY358144	CCDS10140.2	15q15.3	2008-02-05	2005-10-06	2005-10-06	ENSG00000186417	ENSG00000186417			29514	protein-coding gene	gene with protein product		608603	"collomin"	COLM		16039564, 12642876	Standard	XM_005254338		Approved	CRG-L2, CLOM, colmedin, UNC-112	uc002aba.3	Q6ZMI3	OTTHUMG00000131746	ENST00000335449.6:c.474G>A	15.37:g.51676022G>A						GLDN_ENST00000396399.2_Silent_p.L34L	p.L158L	NM_181789.2	NP_861454.2	Q6ZMI3	GLDN_HUMAN		all cancers(107;0.00194)|GBM - Glioblastoma multiforme(94;0.00942)	4	530	+			158			Collagen-like 1.		Q6UXZ7|Q7Z359	Silent	SNP	ENST00000335449.6	37	c.474G>A	CCDS10140.2																																																																																				0.433	GLDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254667.2	NM_181789		9	44	0	0	0	0.080935	0	9	44					A	51676022	G	A	51676022	2	1	174	1	0	0	0	0	0	0	0	1	6434	1339	47	3		3	GLDN	15	51676022	Silent	SNP	G	TCGA-G9-6378-01A-11D-1786-08	8836338	51676022	50855370	32	8252											
DMXL2	23312	broad.mit.edu	37	chr15	51795002	51795002	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ccagtcttaaagtgaccttaCctgctgaaggcgttgctctt	8	13	9	11	1	2	2	0	2	2	0	2	2	2	2	3	1	3	3	3	1	4	4			TCGA-G9-6378-01A-11D-1786-08	TCGA-G9-6378-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e0102ae-f348-417d-b442-b660a411fd1a	812bc9a9-75fc-4ab0-99d7-8e2d45c17f4c	g.chr15:51795002C>T	ENST00000251076.5	-	17	3280		c.e17+1		DMXL2_ENST00000543779.2_Splice_Site|DMXL2_ENST00000449909.3_Intron	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2							cell junction (GO:0030054)|extracellular space (GO:0005615)|membrane (GO:0016020)|synaptic vesicle (GO:0008021)	Rab GTPase binding (GO:0017137)	p.?(1)		breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		AGTGACCTTACCTGCTGAAGG	0.393																																						ENST00000251076.5																			1	Unknown(1)	p.?(1)	prostate(1)	breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101						c.e17+1		Dmx-like 2							92	89	90					15																	51795002		2195	4293	6488	SO:0001630	splice_region_variant	23312					cell junction|synaptic vesicle membrane	Rab GTPase binding	g.chr15:51795002C>T	AB020663	CCDS10141.1, CCDS53945.1, CCDS53946.1	15q21.2	2013-01-10			ENSG00000104093	ENSG00000104093		"WD repeat domain containing"	2938	protein-coding gene	gene with protein product	"rabconnectin 3"	612186					Standard	NM_001174116		Approved	RC3, KIAA0856	uc010ufy.2	Q8TDJ6	OTTHUMG00000131749	ENST00000251076.5:c.2992+1G>A	15.37:g.51795002C>T						DMXL2_ENST00000543779.2_Splice_Site|DMXL2_ENST00000449909.3_Intron		NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN		all cancers(107;0.00494)	17	3280	-								B2RTR3|B7ZMH3|F5GWF1|O94938	Splice_Site	SNP	ENST00000251076.5	37		CCDS10141.1	.	.	.	.	.	.	.	.	.	.	C	25.0	4.590882	0.86851	.	.	ENSG00000104093	ENST00000251076;ENST00000543779	.	.	.	5.27	5.27	0.74061	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.9502	0.92638	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	DMXL2	49582294	1.000000	0.71417	1.000000	0.80357	0.866000	0.49608	7.234000	0.78134	2.459000	0.83118	0.644000	0.83932	.		0.393	DMXL2-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254671.2	NM_015263	Intron	12	74	0	0	0	0.105934	0	12	74					T	51795002	C	T	51795002	5	4	174	1	0	0	0	0	0	0	1	0	4595	521	18	3	6228	3	DMXL2	15	51795002	Splice_Site	SNP	C	TCGA-G9-6378-01A-11D-1786-08	118980	51795002	50736390	33	8253											
CYP1A1	1543	broad.mit.edu	37	chr15	75013056	75013056	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cacttaacaccttgtcgataGcaccatcaggggtgagaaac	13	8	9	11	1	1	1	1	1	0	1	2	3	1	1	2	2	3	1	2	2	3	3			TCGA-G9-6378-01A-11D-1786-08	TCGA-G9-6378-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e0102ae-f348-417d-b442-b660a411fd1a	812bc9a9-75fc-4ab0-99d7-8e2d45c17f4c	g.chr15:75013056G>A	ENST00000379727.3	-	7	1511	c.1313C>T	c.(1312-1314)gCt>gTt	p.A438V	CYP1A1_ENST00000395048.2_Missense_Mutation_p.A438V|CYP1A1_ENST00000395049.4_Missense_Mutation_p.A409V|CYP1A1_ENST00000567032.1_Missense_Mutation_p.A438V			P04798	CP1A1_HUMAN	cytochrome P450, family 1, subfamily A, polypeptide 1	438					9-cis-retinoic acid biosynthetic process (GO:0042904)|aging (GO:0007568)|amine metabolic process (GO:0009308)|arachidonic acid metabolic process (GO:0019369)|camera-type eye development (GO:0043010)|cell proliferation (GO:0008283)|cellular lipid metabolic process (GO:0044255)|cellular response to organic cyclic compound (GO:0071407)|coumarin metabolic process (GO:0009804)|dibenzo-p-dioxin catabolic process (GO:0019341)|digestive tract development (GO:0048565)|drug metabolic process (GO:0017144)|embryo development ending in birth or egg hatching (GO:0009792)|epoxygenase P450 pathway (GO:0019373)|flavonoid metabolic process (GO:0009812)|hepatocyte differentiation (GO:0070365)|hydrogen peroxide biosynthetic process (GO:0050665)|insecticide metabolic process (GO:0017143)|maternal process involved in parturition (GO:0060137)|omega-hydroxylase P450 pathway (GO:0097267)|oxidation-reduction process (GO:0055114)|porphyrin-containing compound metabolic process (GO:0006778)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|response to antibiotic (GO:0046677)|response to arsenic-containing substance (GO:0046685)|response to drug (GO:0042493)|response to food (GO:0032094)|response to herbicide (GO:0009635)|response to hyperoxia (GO:0055093)|response to hypoxia (GO:0001666)|response to iron(III) ion (GO:0010041)|response to lipopolysaccharide (GO:0032496)|response to nematode (GO:0009624)|response to virus (GO:0009615)|response to vitamin A (GO:0033189)|response to wounding (GO:0009611)|small molecule metabolic process (GO:0044281)|vitamin D metabolic process (GO:0042359)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|mitochondrion (GO:0005739)	aromatase activity (GO:0070330)|demethylase activity (GO:0032451)|flavonoid 3'-monooxygenase activity (GO:0016711)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxidoreductase activity (GO:0016491)|oxidoreductase activity, acting on diphenols and related substances as donors (GO:0016679)|oxygen binding (GO:0019825)|steroid hydroxylase activity (GO:0008395)|vitamin D 24-hydroxylase activity (GO:0070576)	p.A438V(1)		autonomic_ganglia(1)|breast(2)|endometrium(1)|large_intestine(7)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34					Acetaminophen(DB00316)|Albendazole(DB00518)|Amiodarone(DB01118)|Amlodipine(DB00381)|Amodiaquine(DB00613)|Arsenic trioxide(DB01169)|Azelastine(DB00972)|Benzyl alcohol(DB06770)|Bezafibrate(DB01393)|Bortezomib(DB00188)|Caffeine(DB00201)|Carvedilol(DB01136)|Chloroquine(DB00608)|Chlorzoxazone(DB00356)|Cholecalciferol(DB00169)|Cinnarizine(DB00568)|Clenbuterol(DB01407)|Clobetasol propionate(DB01013)|Clofibrate(DB00636)|Clomifene(DB00882)|Clonidine(DB00575)|Clozapine(DB00363)|Dacarbazine(DB00851)|Dapagliflozin(DB06292)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Debrisoquin(DB04840)|Dexamethasone(DB01234)|Dexmedetomidine(DB00633)|Diclofenac(DB00586)|Dicyclomine(DB00804)|Dronabinol(DB00470)|Erlotinib(DB00530)|Estradiol(DB00783)|Estrone(DB00655)|Ethanol(DB00898)|Flunarizine(DB04841)|Fluorescein(DB00693)|Flutamide(DB00499)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Gefitinib(DB00317)|Granisetron(DB00889)|Haloperidol(DB00502)|Isoprenaline(DB01064)|Itraconazole(DB01167)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lorcaserin(DB04871)|Mebendazole(DB00643)|Melatonin(DB01065)|Menadione(DB00170)|Methoxsalen(DB00553)|Nicotine(DB00184)|Nifedipine(DB01115)|Nitroprusside(DB00325)|Norfloxacin(DB01059)|Omeprazole(DB00338)|Ouabain(DB01092)|Oxaliplatin(DB00526)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Prazosin(DB00457)|Primaquine(DB01087)|Progesterone(DB00396)|Propofol(DB00818)|Propranolol(DB00571)|Pyridoxine(DB00165)|Quinidine(DB00908)|Quinine(DB00468)|Rabeprazole(DB01129)|Riluzole(DB00740)|Sildenafil(DB00203)|Streptozocin(DB00428)|Sulindac(DB00605)|Tamoxifen(DB00675)|Testosterone(DB00624)|Thalidomide(DB01041)|Theophylline(DB00277)|Thiabendazole(DB00730)|Ticlopidine(DB00208)|Toremifene(DB00539)|Tretinoin(DB00755)|Vitamin A(DB00162)|Warfarin(DB00682)	CTTGTCGATAGCACCATCAGG	0.522									Endometrial Cancer, Familial Clustering of;ACTH-independent macronodular adrenal hyperplasia																													ENST00000379727.3																			1	Substitution - Missense(1)	p.A438V(1)	prostate(1)	autonomic_ganglia(1)|breast(2)|endometrium(1)|large_intestine(7)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						c.(1312-1314)gCt>gTt		cytochrome P450, family 1, subfamily A, polypeptide 1	Arsenic trioxide(DB01169)|Benzphetamine(DB00865)|Bleomycin(DB00290)|Chlorzoxazone(DB00356)|Dacarbazine(DB00851)|Dactinomycin(DB00970)|Esomeprazole(DB00736)|Estrone(DB00655)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Ginseng(DB01404)|Granisetron(DB00889)|Ketoconazole(DB01026)|Menadione(DB00170)|Picrotoxin(DB00466)|Primaquine(DB01087)|Quinidine(DB00908)|Quinine(DB00468)|Thiabendazole(DB00730)						145	141	142					15																	75013056		2197	4296	6493	SO:0001583	missense	1543	Endometrial Cancer, Familial Clustering of;ACTH-independent macronodular adrenal hyperplasia	Familial Cancer Database	;AIMAH, Cushing disease, Adrenal, Familial	cellular lipid metabolic process|drug metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding|vitamin D 24-hydroxylase activity	g.chr15:75013056G>A	BC023019	CCDS10268.1	15q24.1	2007-12-14	2003-01-14		ENSG00000140465	ENSG00000140465	1.14.14.1	"Cytochrome P450s"	2595	protein-coding gene	gene with protein product		108330	"cytochrome P450, subfamily I (aromatic compound-inducible), polypeptide 1"	CYP1		15128046	Standard	NM_000499		Approved	P450DX, P1-450, P450-C, CP11	uc002ayp.4	P04798	OTTHUMG00000142812	ENST00000379727.3:c.1313C>T	15.37:g.75013056G>A	ENSP00000369050:p.Ala438Val					CYP1A1_ENST00000395049.4_Missense_Mutation_p.A409V|CYP1A1_ENST00000395048.2_Missense_Mutation_p.A438V|CYP1A1_ENST00000567032.1_Missense_Mutation_p.A438V	p.A438V			P04798	CP1A1_HUMAN			7	1511	-			438					A4F3V9|A4F3W0|Q53G18	Missense_Mutation	SNP	ENST00000379727.3	37	c.1313C>T	CCDS10268.1	.	.	.	.	.	.	.	.	.	.	G	7.748	0.702819	0.15172	.	.	ENSG00000140465	ENST00000379727;ENST00000395048;ENST00000395049;ENST00000268062	T;T;T	0.79554	-1.28;-1.28;-1.28	5.46	1.22	0.21188	.	0.311240	0.38605	N	0.001630	T	0.63768	0.2539	N	0.16743	0.435	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.12837	0.008;0.008	T	0.55623	-0.8112	10	0.72032	D	0.01	.	7.7811	0.29066	0.1438:0.2444:0.6118:0.0	.	409;438	E7EMT5;P04798	.;CP1A1_HUMAN	V	438;438;409;410	ENSP00000369050:A438V;ENSP00000378488:A438V;ENSP00000378489:A409V	ENSP00000268062:A410V	A	-	2	0	CYP1A1	72800109	0.940000	0.31905	0.002000	0.10522	0.002000	0.02628	1.682000	0.37628	-0.020000	0.14032	-1.266000	0.01441	GCT		0.522	CYP1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286396.1	NM_000499		36	157	0	0	0	0.09836	0	36	157					A	75013056	G	A	75013056	3	1	174	1	0	0	0	0	1	0	0	0	4149	971	34	3	229	3	CYP1A1	15	75013056	Missense_Mutation	SNP	G	TCGA-G9-6378-01A-11D-1786-08	23218054	75013056	27518336	34	8254											
AP3B2	8120	broad.mit.edu	37	chr15	83349301	83349301	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggcgccaggtggaagtagagCtgcgccaccgccatcaccac	9	4	13	15	3	1	1	1	0	0	1	1	2	1	2	5	3	2	2	5	3	2	1			TCGA-G9-6378-01A-11D-1786-08	TCGA-G9-6378-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e0102ae-f348-417d-b442-b660a411fd1a	812bc9a9-75fc-4ab0-99d7-8e2d45c17f4c	g.chr15:83349301C>G	ENST00000261722.3	-	8	1185	c.978G>C	c.(976-978)caG>caC	p.Q326H	AP3B2_ENST00000535348.1_Missense_Mutation_p.Q294H|AP3B2_ENST00000535359.1_Missense_Mutation_p.Q326H|RP11-752G15.3_ENST00000560650.1_RNA	NM_004644.3	NP_004635.2	Q13367	AP3B2_HUMAN	adaptor-related protein complex 3, beta 2 subunit	326					anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|intracellular protein transport (GO:0006886)|post-Golgi vesicle-mediated transport (GO:0006892)	AP-3 adaptor complex (GO:0030123)|COPI-coated vesicle (GO:0030137)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	transporter activity (GO:0005215)	p.Q326H(2)		breast(4)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(2)	41			BRCA - Breast invasive adenocarcinoma(143;0.229)			GGAAGTAGAGCTGCGCCACCG	0.706																																						ENST00000261722.3																			2	Substitution - Missense(2)	p.Q326H(2)	prostate(2)	breast(4)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(2)	41						c.(976-978)caG>caC		adaptor-related protein complex 3, beta 2 subunit							4	5	5					15																	83349301		1677	3712	5389	SO:0001583	missense	8120				endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport	clathrin coated vesicle membrane|COPI-coated vesicle|membrane coat	binding|protein transporter activity	g.chr15:83349301C>G	U37673	CCDS45331.1, CCDS61736.1, CCDS61737.1	15q	2008-07-07			ENSG00000103723	ENSG00000103723			567	protein-coding gene	gene with protein product		602166				7671305, 1851215	Standard	NM_004644		Approved	NAPTB	uc010uoh.2	Q13367	OTTHUMG00000168009	ENST00000261722.3:c.978G>C	15.37:g.83349301C>G	ENSP00000261722:p.Gln326His					AP3B2_ENST00000535348.1_Missense_Mutation_p.Q294H|RP11-752G15.3_ENST00000560650.1_RNA|AP3B2_ENST00000535359.1_Missense_Mutation_p.Q326H	p.Q326H	NM_004644.3	NP_004635.2	Q13367	AP3B2_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.229)		8	1185	-			326					A4Z4T7|B7ZKR7|B7ZKS0|O14808|Q52LY8	Missense_Mutation	SNP	ENST00000261722.3	37	c.978G>C	CCDS45331.1	.	.	.	.	.	.	.	.	.	.	C	23.8	4.464110	0.84425	.	.	ENSG00000103723	ENST00000261722;ENST00000535348;ENST00000535359	T;T;T	0.27256	1.68;1.68;1.68	4.76	4.76	0.60689	Clathrin/coatomer adaptor, adaptin-like, N-terminal (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.104988	0.64402	D	0.000002	T	0.53642	0.1809	M	0.89534	3.04	0.80722	D	1	D;D;D	0.89917	0.996;1.0;0.994	D;D;D	0.81914	0.995;0.993;0.976	T	0.60219	-0.7306	10	0.72032	D	0.01	-19.6242	8.1815	0.31313	0.0:0.7811:0.0:0.2189	.	294;326;326	B7ZKR7;B7ZKS0;Q13367	.;.;AP3B2_HUMAN	H	326;294;326	ENSP00000261722:Q326H;ENSP00000438721:Q294H;ENSP00000440984:Q326H	ENSP00000261722:Q326H	Q	-	3	2	AP3B2	81146355	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.239000	0.32719	2.472000	0.83506	0.561000	0.74099	CAG		0.706	AP3B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397463.1			3	15	0	0	0	0.115264	0	3	15					G	83349301	C	G	83349301	3	3	174	1	0	0	0	0	1	0	0	0	745	796	28	5	2270	5	AP3B2	15	83349301	Missense_Mutation	SNP	C	TCGA-G9-6378-01A-11D-1786-08	8336245	83349301	19182091	35	8255											
TXNDC11	51061	broad.mit.edu	37	chr16	11782231	11782236	+	In_Frame_Del	DEL	GGCAGA	GGCAGA	-																															aaatgctgagacgggaactgGgcagagccacttccaatgag																										TCGA-G9-6378-01A-11D-1786-08	TCGA-G9-6378-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e0102ae-f348-417d-b442-b660a411fd1a	812bc9a9-75fc-4ab0-99d7-8e2d45c17f4c	g.chr16:11782231_11782236delGGCAGA	ENST00000356957.3	-	10	2154_2159	c.2047_2052delTCTGCC	c.(2047-2052)tctgccdel	p.SA683del	TXNDC11_ENST00000283033.5_In_Frame_Del_p.SA656del|TXNDC11_ENST00000570917.1_5'UTR			Q6PKC3	TXD11_HUMAN	thioredoxin domain containing 11	683	Thioredoxin 2. {ECO:0000255|PROSITE- ProRule:PRU00691}.				cell redox homeostasis (GO:0045454)|protein folding (GO:0006457)|response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	protein disulfide isomerase activity (GO:0003756)			endometrium(3)|large_intestine(5)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	21						ACGGGAACTGGGCAGAGCCACTTCCA	0.398																																						ENST00000356957.3																			0				endometrium(3)|large_intestine(5)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	21						c.(2047-2052)del		thioredoxin domain containing 11																																				SO:0001651	inframe_deletion	51061				cell redox homeostasis	endoplasmic reticulum membrane|integral to membrane		g.chr16:11782231_11782236delGGCAGA	BC013727	CCDS32387.1	16p13.13	2008-09-29				ENSG00000153066			28030	protein-coding gene	gene with protein product	"EF-hand binding protein 1"					8619474, 9110174	Standard	XM_005255346		Approved	EFP1	uc002dbg.1	Q6PKC3		ENST00000356957.3:c.2047_2052delTCTGCC	16.37:g.11782231_11782236delGGCAGA	ENSP00000349439:p.Ser683_Ala684del					TXNDC11_ENST00000283033.5_In_Frame_Del_p.SA656del|TXNDC11_ENST00000570917.1_5'UTR	p.SA683del			Q6PKC3	TXD11_HUMAN			10	2154_2159	-			683			Thioredoxin 2.		O95887|Q6PJA6|Q8N2Q4|Q96K45|Q96K53	In_Frame_Del	DEL	ENST00000356957.3	37	c.2047_2052delTCTGCC																																																																																					0.398	TXNDC11-002	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000437057.1	NM_015914		13	91						13	91	---	---	---	---	-	11782236	GGCAGA	-	11782231	7	5	174	1	0	1	0	1	0	0	0	0	16789	1219	43	0	921	0	TXNDC11	16	11782231	In_Frame_Del	DEL	GGCAGA	TCGA-G9-6378-01A-11D-1786-08		11782231	78572522	36	8256											
KRTAP9-3	83900	broad.mit.edu	37	chr17	39388891	39388891	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tccagctgctgccagccttgCtgccacccaacttgctgtca	6	10	8	17	0	1	0	1	0	0	0	2	0	2	0	5	0	8	4	5	0	1	2			TCGA-G9-6378-01A-11D-1786-08	TCGA-G9-6378-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e0102ae-f348-417d-b442-b660a411fd1a	812bc9a9-75fc-4ab0-99d7-8e2d45c17f4c	g.chr17:39388891C>T	ENST00000411528.2	+	1	177	c.138C>T	c.(136-138)tgC>tgT	p.C46C		NM_031962.2	NP_114168.1	Q9BYQ3	KRA93_HUMAN	keratin associated protein 9-3	46	16 X 5 AA repeats of C-C-[RQVSHE]-[SPTN]- [TASPI].					keratin filament (GO:0045095)		p.C46C(1)		breast(1)|endometrium(3)|lung(2)|ovary(1)|prostate(1)	8		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000397)			GCCAGCCTTGCTGCCACCCAA	0.622																																						ENST00000411528.2																			1	Substitution - coding silent(1)	p.C46C(1)	prostate(1)	breast(1)|endometrium(3)|lung(2)|ovary(1)|prostate(1)	8						c.(136-138)tgC>tgT		keratin associated protein 9-3							61	64	63					17																	39388891		2099	4296	6395	SO:0001819	synonymous_variant	83900					keratin filament	protein binding	g.chr17:39388891C>T	AJ406947	CCDS11385.1	17q21.2	2013-06-25			ENSG00000204873	ENSG00000204873		"Keratin associated proteins"	16927	protein-coding gene	gene with protein product						11279113	Standard	NM_031962		Approved	KAP9.3	uc021txg.1	Q9BYQ3	OTTHUMG00000133427	ENST00000411528.2:c.138C>T	17.37:g.39388891C>T							p.C46C	NM_031962.2	NP_114168.1	Q9BYQ3	KRA93_HUMAN	STAD - Stomach adenocarcinoma(17;0.000397)		1	177	+		Breast(137;0.000496)	46			16 X 5 AA repeats of C-C-[RQVSHE]-[SPTN]- [TASPI].			Silent	SNP	ENST00000411528.2	37	c.138C>T	CCDS11385.1																																																																																				0.622	KRTAP9-3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257290.1			14	93	0	0	0	0.105934	0	14	93					T	39388891	C	T	39388891	2	4	174	1	0	0	0	0	0	0	0	1	8574	805	28	3		3	KRTAP9-3	17	39388891	Silent	SNP	C	TCGA-G9-6378-01A-11D-1786-08		39388891	41806319	37	8257											
ANKFN1	162282	broad.mit.edu	37	chr17	54555011	54555011	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccgtgaaaacaataatattTctaggtaagtgatcaggagt	15	12	9	5	1	2	2	1	2	1	0	3	3	3	3	1	2	1	1	1	2	7	5			TCGA-G9-6378-01A-11D-1786-08	TCGA-G9-6378-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e0102ae-f348-417d-b442-b660a411fd1a	812bc9a9-75fc-4ab0-99d7-8e2d45c17f4c	g.chr17:54555011T>C	ENST00000318698.2	+	15	1980	c.1945T>C	c.(1945-1947)Tct>Cct	p.S649P	ANKFN1_ENST00000566473.2_Missense_Mutation_p.S649P	NM_153228.2	NP_694960.2	Q8N957	ANKF1_HUMAN	ankyrin-repeat and fibronectin type III domain containing 1	649										NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(11)|lung(27)|ovary(1)|prostate(1)|skin(1)	53						CAATAATATTTCTAGGTAAGT	0.418																																						ENST00000566473.2																			0				NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(11)|lung(27)|ovary(1)|prostate(1)|skin(1)	53						c.(1945-1947)Tct>Cct		ankyrin-repeat and fibronectin type III domain containing 1							115	115	115					17																	54555011		2203	4300	6503	SO:0001583	missense	162282							g.chr17:54555011T>C	AK095654	CCDS32686.1	17q23.2	2014-02-12	2005-11-15		ENSG00000153930	ENSG00000153930		"Ankyrin repeat domain containing", "Fibronectin type III domain containing"	26766	protein-coding gene	gene with protein product							Standard	NM_153228		Approved	FLJ38335	uc002iun.1	Q8N957	OTTHUMG00000155010	ENST00000318698.2:c.1945T>C	17.37:g.54555011T>C	ENSP00000321627:p.Ser649Pro					ANKFN1_ENST00000318698.2_Missense_Mutation_p.S649P	p.S649P			Q8N957	ANKF1_HUMAN			15	1945	+			649						Missense_Mutation	SNP	ENST00000318698.2	37	c.1945T>C	CCDS32686.1	.	.	.	.	.	.	.	.	.	.	T	26.9	4.782335	0.90282	.	.	ENSG00000153930	ENST00000318698	T	0.39592	1.07	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	T	0.67571	0.2907	M	0.82056	2.57	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.72323	-0.4328	10	0.87932	D	0	-9.5959	16.1982	0.82046	0.0:0.0:0.0:1.0	.	649	Q8N957	ANKF1_HUMAN	P	649	ENSP00000321627:S649P	ENSP00000321627:S649P	S	+	1	0	ANKFN1	51910010	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	8.040000	0.89188	2.226000	0.72624	0.533000	0.62120	TCT		0.418	ANKFN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338043.1	NM_153228		3	104	0	0	0	0.009096	0	3	104					C	54555011	T	C	54555011	3	2	174	1	0	0	0	0	1	0	0	0	625	1783	62	4	2003	4	ANKFN1	17	54555011	Missense_Mutation	SNP	T	TCGA-G9-6378-01A-11D-1786-08	15166120	54555011	26640199	38	8258											
PRRG1	5638	broad.mit.edu	37	chrX	37285150	37285150	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	acgctacccaagagctaatgGgttttttgaagaaataagac	15	10	9	7	1	0	4	0	1	0	3	0	4	0	4	1	1	2	3	1	1	6	6			TCGA-G9-6378-01A-11D-1786-08	TCGA-G9-6378-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e0102ae-f348-417d-b442-b660a411fd1a	812bc9a9-75fc-4ab0-99d7-8e2d45c17f4c	g.chrX:37285150G>A	ENST00000542554.1	+	4	340	c.68G>A	c.(67-69)gGg>gAg	p.G23E	PRRG1_ENST00000449135.2_Missense_Mutation_p.G23E|PRRG1_ENST00000491253.1_Intron|PRRG1_ENST00000378628.4_Missense_Mutation_p.G23E|PRRG1_ENST00000463135.1_Missense_Mutation_p.G23E|TM4SF2_ENST00000465127.1_Missense_Mutation_p.G23E|PRRG1_ENST00000543642.1_Missense_Mutation_p.G23E	NM_001173489.1	NP_001166960.1	O14668	TMG1_HUMAN	proline rich Gla (G-carboxyglutamic acid) 1	23	Gla. {ECO:0000255|PROSITE- ProRule:PRU00463}.					extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.G23E(1)		breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	15						AGAGCTAATGGGTTTTTTGAA	0.338																																						ENST00000542554.1																			1	Substitution - Missense(1)	p.G23E(1)	prostate(1)	breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	15						c.(67-69)gGg>gAg		proline rich Gla (G-carboxyglutamic acid) 1							55	54	54					X																	37285150		2202	4300	6502	SO:0001583	missense	5638					extracellular region|integral to plasma membrane	calcium ion binding	g.chrX:37285150G>A	AF009242	CCDS14239.1, CCDS55397.1	Xp21.1	2010-08-13	2004-05-27		ENSG00000130962	ENSG00000130962			9469	protein-coding gene	gene with protein product		604428	"proline-rich Gla (G-carboxyglutamic acid) polypeptide 1"			9256434	Standard	NM_000950		Approved	PRGP1	uc004ddo.3	O14668	OTTHUMG00000021360	ENST00000542554.1:c.68G>A	X.37:g.37285150G>A	ENSP00000444278:p.Gly23Glu					PRRG1_ENST00000378628.4_Missense_Mutation_p.G23E|PRRG1_ENST00000543642.1_Missense_Mutation_p.G23E|PRRG1_ENST00000463135.1_Missense_Mutation_p.G23E|PRRG1_ENST00000449135.2_Missense_Mutation_p.G23E|TM4SF2_ENST00000465127.1_Missense_Mutation_p.G23E|PRRG1_ENST00000491253.1_Intron	p.G23E	NM_001173489.1	NP_001166960.1	O14668	TMG1_HUMAN			4	340	+			23			Gla.		B2R7A3|C9JXL7|D3DWA9|Q5JT66	Missense_Mutation	SNP	ENST00000542554.1	37	c.68G>A	CCDS14239.1	.	.	.	.	.	.	.	.	.	.	G	9.672	1.146931	0.21288	.	.	ENSG00000130962;ENSG00000130962;ENSG00000130962;ENSG00000130962;ENSG00000130962;ENSG00000130962;ENSG00000130962;ENSG00000250349	ENST00000378628;ENST00000466533;ENST00000542554;ENST00000543642;ENST00000484460;ENST00000449135;ENST00000463135;ENST00000465127	D;D;D;D;D;D;D;D	0.99771	-6.71;-6.71;-6.71;-6.71;-6.71;-6.71;-6.71;-6.71	5.18	-1.55	0.08558	Gamma-carboxyglutamic acid-rich (GLA) domain (3);Coagulation factor, subgroup, Gla domain (1);	0.786408	0.12290	N	0.482135	D	0.98118	0.9379	L	0.46157	1.445	0.09310	N	1	B	0.15141	0.012	B	0.15484	0.013	D	0.97628	1.0140	10	0.10111	T	0.7	-1.5605	1.4154	0.02300	0.1602:0.2463:0.3386:0.2549	.	23	O14668	TMG1_HUMAN	E	23	ENSP00000367894:G23E;ENSP00000418384:G23E;ENSP00000444278:G23E;ENSP00000443271:G23E;ENSP00000420353:G23E;ENSP00000390332:G23E;ENSP00000419999:G23E;ENSP00000417050:G23E	ENSP00000367894:G23E	G	+	2	0	RP5-972B16.2;PRRG1	37170071	0.000000	0.05858	0.002000	0.10522	0.774000	0.43823	-0.149000	0.10204	-0.483000	0.06772	-0.225000	0.12378	GGG		0.338	PRRG1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056228.2	NM_000950		4	32	0	0	0	0.009096	0	4	32					A	37285150	G	A	37285150	3	1	174	1	0	0	0	0	1	0	0	0	12605	1232	43	3	74	3	PRRG1	23	37285150	Missense_Mutation	SNP	G	TCGA-G9-6378-01A-11D-1786-08		37285150	117985410	39	8259											
MID1IP1	58526	broad.mit.edu	37	chrX	38664272	38664272	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaatcgcttcattggcgccGtgaacaacatggaccagacg	11	8	11	11	4	1	3	1	2	0	1	2	4	1	4	2	2	2	1	2	2	3	2			TCGA-G9-6378-01A-11D-1786-08	TCGA-G9-6378-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e0102ae-f348-417d-b442-b660a411fd1a	812bc9a9-75fc-4ab0-99d7-8e2d45c17f4c	g.chrX:38664272G>A	ENST00000336949.6	+	2	1018	c.73G>A	c.(73-75)Gtg>Atg	p.V25M	MID1IP1_ENST00000457894.1_Missense_Mutation_p.V25M|MID1IP1_ENST00000378474.3_Missense_Mutation_p.V25M|MID1IP1-AS1_ENST00000436893.1_RNA	NM_021242.4	NP_067065.1	Q9NPA3	M1IP1_HUMAN	MID1 interacting protein 1	25					lipid metabolic process (GO:0006629)|negative regulation of microtubule depolymerization (GO:0007026)|positive regulation of fatty acid biosynthetic process (GO:0045723)|positive regulation of ligase activity (GO:0051351)|protein polymerization (GO:0051258)|regulation of lipid biosynthetic process (GO:0046890)	cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)		p.V25M(1)		kidney(1)|large_intestine(3)|lung(2)|prostate(1)	7						CATTGGCGCCGTGAACAACAT	0.607																																						ENST00000336949.6																			1	Substitution - Missense(1)	p.V25M(1)	prostate(1)	kidney(1)|large_intestine(3)|lung(2)|prostate(1)	7						c.(73-75)Gtg>Atg		MID1 interacting protein 1							109	73	85					X																	38664272		2202	4300	6502	SO:0001583	missense	58526				lipid biosynthetic process|negative regulation of microtubule depolymerization|positive regulation of fatty acid biosynthetic process|positive regulation of ligase activity|protein polymerization	cytosol|microtubule|nucleus		g.chrX:38664272G>A		CCDS14249.1	Xp11.4	2012-02-23	2012-02-23		ENSG00000165175	ENSG00000165175			20715	protein-coding gene	gene with protein product	"gastrulation specific G12 homolog (zebrafish)"		"MID1 interacting protein 1 (gastrulation specific G12-like (zebrafish))"				Standard	NM_001098790		Approved	STRAIT11499, FLJ10386, MIG12, THRSPL, G12-like	uc010ngz.3	Q9NPA3	OTTHUMG00000024092	ENST00000336949.6:c.73G>A	X.37:g.38664272G>A	ENSP00000338706:p.Val25Met					MID1IP1_ENST00000378474.3_Missense_Mutation_p.V25M|MID1IP1_ENST00000457894.1_Missense_Mutation_p.V25M	p.V25M	NM_021242.4	NP_067065.1	Q9NPA3	M1IP1_HUMAN			2	1018	+			25					D3DWB2	Missense_Mutation	SNP	ENST00000336949.6	37	c.73G>A	CCDS14249.1	.	.	.	.	.	.	.	.	.	.	G	17.86	3.493088	0.64186	.	.	ENSG00000165175	ENST00000457894;ENST00000378474;ENST00000336949	.	.	.	4.57	4.57	0.56435	.	0.157146	0.40818	N	0.001008	T	0.78426	0.4281	M	0.80616	2.505	0.47737	D	0.999502	D	0.89917	1.0	D	0.77004	0.989	T	0.81660	-0.0832	9	0.87932	D	0	-7.7472	12.4551	0.55700	0.0:0.0:0.8322:0.1678	.	25	Q9NPA3	M1IP1_HUMAN	M	25	.	ENSP00000338706:V25M	V	+	1	0	MID1IP1	38549216	1.000000	0.71417	0.999000	0.59377	0.864000	0.49448	9.054000	0.93866	2.116000	0.64780	0.529000	0.55759	GTG		0.607	MID1IP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060655.1			3	29	0	0	0	0.115264	0	3	29					A	38664272	G	A	38664272	3	1	174	1	0	0	0	0	1	0	0	0	9577	1145	40	1	75	1	MID1IP1	23	38664272	Missense_Mutation	SNP	G	TCGA-G9-6378-01A-11D-1786-08	1379122	38664272	116606288	40	8260											
HDAC8	55869	broad.mit.edu	37	chrX	71708813	71708813	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctggtaatatttttcatctTgtatgccatcctgaatgggc	8	17	8	8	0	3	1	1	1	2	0	4	1	4	1	2	2	1	2	2	2	4	6			TCGA-G9-6378-01A-11D-1786-08	TCGA-G9-6378-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e0102ae-f348-417d-b442-b660a411fd1a	812bc9a9-75fc-4ab0-99d7-8e2d45c17f4c	g.chrX:71708813T>C	ENST00000373573.3	-	7	1048	c.707A>G	c.(706-708)cAa>cGa	p.Q236R	HDAC8_ENST00000373561.4_Missense_Mutation_p.Q236R|HDAC8_ENST00000429103.2_Missense_Mutation_p.Q41R|HDAC8_ENST00000439122.2_Missense_Mutation_p.Q236R|HDAC8_ENST00000373560.2_Intron|HDAC8_ENST00000373583.1_Intron|HDAC8_ENST00000373571.1_Missense_Mutation_p.Q236R|HDAC8_ENST00000373559.4_Missense_Mutation_p.Q119R|HDAC8_ENST00000478743.1_5'Flank|HDAC8_ENST00000373589.4_Missense_Mutation_p.Q145R	NM_018486.2	NP_060956.1	Q9BY41	HDAC8_HUMAN	histone deacetylase 8	236	Histone deacetylase.				chromatin assembly or disassembly (GO:0006333)|chromatin modification (GO:0016568)|mitotic cell cycle (GO:0000278)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of cohesin localization to chromatin (GO:0071922)|sister chromatid cohesion (GO:0007062)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|histone deacetylase complex (GO:0000118)|nuclear chromosome (GO:0000228)|nucleus (GO:0005634)	histone deacetylase activity (GO:0004407)|metal ion binding (GO:0046872)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|transcription factor binding (GO:0008134)			breast(3)|cervix(1)|endometrium(1)|lung(4)|prostate(1)	10	Renal(35;0.156)				Vorinostat(DB02546)	TTTTTCATCTTGTATGCCATC	0.438																																						ENST00000439122.2																			0				breast(3)|cervix(1)|endometrium(1)|lung(4)|prostate(1)	10						c.(706-708)cAa>cGa		histone deacetylase 8	Vorinostat(DB02546)						192	139	157					X																	71708813		2203	4300	6503	SO:0001583	missense	55869				chromatin assembly or disassembly|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|nuclear chromosome	histone deacetylase activity (H3-K16 specific)|metal ion binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|transcription factor binding	g.chrX:71708813T>C	AF230097	CCDS14420.1, CCDS55448.1, CCDS55449.1, CCDS55450.1, CCDS55451.1, CCDS55452.1	Xq13	2014-01-29	2002-09-02	2002-09-06	ENSG00000147099	ENSG00000147099			13315	protein-coding gene	gene with protein product		300269	"histone deacetylase-like 1", "Wilson-Turner X-linked mental retardation syndrome"	HDACL1, WTS, MRXS6		10756090, 10922473, 22889856	Standard	NM_001166448		Approved	RPD3	uc004eau.3	Q9BY41	OTTHUMG00000021814	ENST00000373573.3:c.707A>G	X.37:g.71708813T>C	ENSP00000362674:p.Gln236Arg					HDAC8_ENST00000373571.1_Missense_Mutation_p.Q236R|HDAC8_ENST00000373573.3_Missense_Mutation_p.Q236R|HDAC8_ENST00000373583.1_Intron|HDAC8_ENST00000373589.4_Missense_Mutation_p.Q145R|HDAC8_ENST00000373560.2_Intron|HDAC8_ENST00000429103.2_Missense_Mutation_p.Q41R|HDAC8_ENST00000373561.4_Missense_Mutation_p.Q236R|HDAC8_ENST00000373559.4_Missense_Mutation_p.Q119R	p.Q236R	NM_001166419.1	NP_001159891.1	Q9BY41	HDAC8_HUMAN			7	993	-	Renal(35;0.156)		236			Histone deacetylase.		A6ND12|A6ND61|A6NET3|A6NJR3|A8MQ62|B4DKN0|B4DV22|Q86VC8|Q9NP76|Q9NYH4	Missense_Mutation	SNP	ENST00000373573.3	37	c.707A>G	CCDS14420.1	.	.	.	.	.	.	.	.	.	.	T	13.01	2.108318	0.37242	.	.	ENSG00000147099	ENST00000373573;ENST00000373589;ENST00000429103;ENST00000373568;ENST00000415409;ENST00000373571;ENST00000439122;ENST00000373559;ENST00000373561	T;T;T;T;T;T;T;T;T	0.73152	-0.72;-0.72;-0.72;-0.72;-0.72;-0.72;-0.72;-0.72;-0.72	4.99	3.82	0.43975	Histone deacetylase domain (2);	0.224620	0.46758	N	0.000268	T	0.47637	0.1456	N	0.04746	-0.17	0.39116	D	0.961568	B;B;B;B;B	0.12013	0.005;0.001;0.002;0.002;0.001	B;B;B;B;B	0.10450	0.005;0.003;0.003;0.002;0.001	T	0.44892	-0.9298	10	0.87932	D	0	-5.6535	8.1804	0.31307	0.0:0.0995:0.0:0.9005	.	145;145;145;236;236	B4DH31;B4DKN0;A6NGJ7;B4DV22;Q9BY41	.;.;.;.;HDAC8_HUMAN	R	236;145;41;145;210;236;236;119;236	ENSP00000362674:Q236R;ENSP00000362691:Q145R;ENSP00000388459:Q41R;ENSP00000362669:Q145R;ENSP00000396424:Q210R;ENSP00000362672:Q236R;ENSP00000414486:Q236R;ENSP00000362660:Q119R;ENSP00000362662:Q236R	ENSP00000362660:Q119R	Q	-	2	0	HDAC8	71625538	1.000000	0.71417	1.000000	0.80357	0.886000	0.51366	1.477000	0.35431	0.788000	0.33755	0.486000	0.48141	CAA		0.438	HDAC8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057193.2	NM_018486		3	68	0	0	0	0.115264	0	3	68					C	71708813	T	C	71708813	3	2	174	1	0	0	0	0	1	0	0	0	7013	1812	63	4	484	4	HDAC8	23	71708813	Missense_Mutation	SNP	T	TCGA-G9-6378-01A-11D-1786-08	33044541	71708813	83561747	41	8261											
MORF4L2	9643	broad.mit.edu	37	chrX	102931652	102931652	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agtggggtctgcccgggcccTtttcttccgagggggctgag	3	10	17	11	2	2	1	0	1	2	0	3	2	3	1	3	5	1	1	3	5	0	3			TCGA-G9-6378-01A-11D-1786-08	TCGA-G9-6378-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e0102ae-f348-417d-b442-b660a411fd1a	812bc9a9-75fc-4ab0-99d7-8e2d45c17f4c	g.chrX:102931652T>C	ENST00000441076.2	-	4	608	c.304A>G	c.(304-306)Agg>Ggg	p.R102G	MORF4L2_ENST00000423833.2_Missense_Mutation_p.R102G|MORF4L2_ENST00000360458.1_Missense_Mutation_p.R102G|MORF4L2_ENST00000433176.2_Missense_Mutation_p.R102G|MORF4L2_ENST00000422154.2_Missense_Mutation_p.R102G|MORF4L2_ENST00000492116.1_5'UTR|MORF4L2_ENST00000451301.1_Missense_Mutation_p.R102G	NM_001142419.1|NM_012286.2	NP_001135891.1|NP_036418.1	Q15014	MO4L2_HUMAN	mortality factor 4 like 2	102					chromatin modification (GO:0016568)|chromatin organization (GO:0006325)|DNA repair (GO:0006281)|positive regulation of striated muscle cell differentiation (GO:0051155)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of growth (GO:0040008)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)	13						GCCCGGGCCCTTTTCTTCCGA	0.498																																						ENST00000423833.2																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)	13						c.(304-306)Agg>Ggg		mortality factor 4 like 2							67	74	72					X																	102931652		2203	4300	6503	SO:0001583	missense	9643				chromatin modification|DNA repair|regulation of cell growth|transcription, DNA-dependent	nucleolus	protein binding	g.chrX:102931652T>C	AF100620	CCDS14512.1	Xq22	2010-11-24			ENSG00000123562	ENSG00000123562			16849	protein-coding gene	gene with protein product	"MORF-related gene X"	300409				9891081, 7584026	Standard	NM_012286		Approved	KIAA0026, MRGX	uc011msa.2	Q15014	OTTHUMG00000022104	ENST00000441076.2:c.304A>G	X.37:g.102931652T>C	ENSP00000391969:p.Arg102Gly					MORF4L2_ENST00000492116.1_5'UTR|MORF4L2_ENST00000360458.1_Missense_Mutation_p.R102G|MORF4L2_ENST00000433176.2_Missense_Mutation_p.R102G|MORF4L2_ENST00000441076.2_Missense_Mutation_p.R102G|MORF4L2_ENST00000451301.1_Missense_Mutation_p.R102G|MORF4L2_ENST00000372620.1_5'UTR|MORF4L2_ENST00000422154.2_Missense_Mutation_p.R102G	p.R102G			Q15014	MO4L2_HUMAN			3	1529	-			102					B3KP92|D3DXA5|Q567V0|Q8J026	Missense_Mutation	SNP	ENST00000441076.2	37	c.304A>G	CCDS14512.1	.	.	.	.	.	.	.	.	.	.	T	16.23	3.063447	0.55432	.	.	ENSG00000123562	ENST00000360458;ENST00000433176;ENST00000422154;ENST00000451301;ENST00000372619;ENST00000441076;ENST00000423833;ENST00000434230;ENST00000418819;ENST00000442614	T;T;T;T;T;T;T;T;T	0.10573	2.86;2.86;2.86;2.86;2.86;2.86;2.86;2.86;2.86	4.58	4.58	0.56647	.	0.000000	0.85682	D	0.000000	T	0.24928	0.0605	M	0.75447	2.3	0.51767	D	0.999939	D	0.56035	0.974	P	0.60012	0.867	T	0.00899	-1.1522	10	0.45353	T	0.12	-15.8345	7.4528	0.27248	0.0:0.0:0.2176:0.7824	.	102	Q15014	MO4L2_HUMAN	G	102;102;102;102;84;102;102;102;102;102	ENSP00000353643:R102G;ENSP00000415476:R102G;ENSP00000394417:R102G;ENSP00000410532:R102G;ENSP00000391969:R102G;ENSP00000416120:R102G;ENSP00000413664:R102G;ENSP00000393283:R102G;ENSP00000400938:R102G	ENSP00000353643:R102G	R	-	1	2	MORF4L2	102818308	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.265000	0.51561	2.011000	0.59026	0.486000	0.48141	AGG		0.498	MORF4L2-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057732.1	NM_012286		3	99	0	0	0	0.115264	0	3	99					C	102931652	T	C	102931652	3	2	174	1	0	0	0	0	1	0	0	0	9707	1608	56	4	566	4	MORF4L2	23	102931652	Missense_Mutation	SNP	T	TCGA-G9-6378-01A-11D-1786-08	31222839	102931652	52338908	42	8262											
MAGEA12	4111	broad.mit.edu	37	chrX	151900633	151900633	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tggggaggacttggtgactcGgcagcaggcacctcccgcag	7	6	16	12	2	0	1	0	1	0	0	2	3	1	3	2	6	1	4	2	6	0	1			TCGA-G9-6378-01A-11D-1786-08	TCGA-G9-6378-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e0102ae-f348-417d-b442-b660a411fd1a	812bc9a9-75fc-4ab0-99d7-8e2d45c17f4c	g.chrX:151900633G>A	ENST00000357916.4	-	2	323	c.168C>T	c.(166-168)gcC>gcT	p.A56A	CSAG1_ENST00000370287.3_5'Flank|CSAG1_ENST00000370291.2_5'Flank|MAGEA12_ENST00000393869.3_Silent_p.A56A|CSAG1_ENST00000452779.2_5'Flank|MAGEA12_ENST00000393900.3_Silent_p.A56A|CSAG4_ENST00000361201.4_RNA	NM_005367.5	NP_005358.2	P43365	MAGAC_HUMAN	melanoma antigen family A, 12	56								p.A56A(1)		breast(5)|large_intestine(5)|liver(1)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28	Acute lymphoblastic leukemia(192;6.56e-05)					TTGGTGACTCGGCAGCAGGCA	0.612																																						ENST00000393900.3																			1	Substitution - coding silent(1)	p.A56A(1)	prostate(1)	breast(5)|large_intestine(5)|liver(1)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28						c.(166-168)gcC>gcT		melanoma antigen family A, 12							76	77	77					X																	151900633		2203	4300	6503	SO:0001819	synonymous_variant	4111							g.chrX:151900633G>A		CCDS76048.1	Xq28	2009-03-13			ENSG00000213401	ENSG00000213401			6799	protein-coding gene	gene with protein product	"cancer/testis antigen family 1, member 12"	300177		MAGE12		8575766	Standard	NM_001166386		Approved	CT1.12	uc004fgc.3	P43365	OTTHUMG00000022650	ENST00000357916.4:c.168C>T	X.37:g.151900633G>A						MAGEA12_ENST00000357916.4_Silent_p.A56A|MAGEA12_ENST00000393869.3_Silent_p.A56A|CSAG4_ENST00000361201.4_RNA	p.A56A	NM_001166386.1	NP_001159858.1	P43365	MAGAC_HUMAN			3	521	-	Acute lymphoblastic leukemia(192;6.56e-05)		56					Q9NSD3	Silent	SNP	ENST00000357916.4	37	c.168C>T	CCDS14710.1																																																																																				0.612	MAGEA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058764.1	NM_005367		24	59	0	0	0	0.076483	0	24	59					A	151900633	G	A	151900633	2	1	174	1	0	0	0	0	0	0	0	1	9166	1103	39	2		2	MAGEA12	23	151900633	Silent	SNP	G	TCGA-G9-6378-01A-11D-1786-08	48968981	151900633	3369927	43	8263											
DIO1	1733	broad.mit.edu	37	chr1	54360027	54360027	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctggccatgggcgagaagacGggtatgaccaggaaccccca	11	4	14	12	2	0	3	0	1	0	2	0	5	0	4	4	4	1	1	4	4	3	1			TCGA-G9-6379-01A-11D-A31L-08	TCGA-G9-6379-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	184256e3-08e8-423a-bb1e-fbcf52d671d7	68f54bda-df0c-4b1e-a81e-9d90763711ac	g.chr1:54360027G>A	ENST00000525202.1	+	1	144	c.144G>A	c.(142-144)acG>acA	p.T48T	DIO1_ENST00000388876.3_Silent_p.T48T|DIO1_ENST00000532493.1_Silent_p.T48T|DIO1_ENST00000534069.1_3'UTR|DIO1_ENST00000361921.3_Silent_p.T48T|DIO1_ENST00000524406.1_Intron|DIO1_ENST00000322679.6_Silent_p.T48T			P49895	IOD1_HUMAN	deiodinase, iodothyronine, type I	48					cellular nitrogen compound metabolic process (GO:0034641)|hormone biosynthetic process (GO:0042446)|small molecule metabolic process (GO:0044281)|thyroid hormone generation (GO:0006590)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	selenium binding (GO:0008430)|thyroxine 5'-deiodinase activity (GO:0004800)			cervix(1)|endometrium(2)|large_intestine(3)|lung(2)|skin(1)	9						GCGAGAAGACGGGTATGACCA	0.527																																						ENST00000525202.1																			0				cervix(1)|endometrium(2)|large_intestine(3)|lung(2)|skin(1)	9						c.e1+1		deiodinase, iodothyronine, type I							188	152	164					1																	54360027		2203	4300	6503	SO:0001630	splice_region_variant	1733				hormone biosynthetic process|thyroid hormone generation	endoplasmic reticulum membrane|integral to membrane|plasma membrane	selenium binding|thyroxine 5'-deiodinase activity	g.chr1:54360027G>A		CCDS30722.1, CCDS41339.1, CCDS41340.1, CCDS53320.1	1p33-p32	2012-03-01			ENSG00000211452	ENSG00000211452	1.97.1.10		2883	protein-coding gene	gene with protein product		147892		TXDI1		8964838	Standard	NM_000792		Approved		uc001cwb.3	P49895	OTTHUMG00000008435	ENST00000525202.1:c.145+1G>A	1.37:g.54360027G>A						DIO1_ENST00000388876.3_Silent_p.T48T|DIO1_ENST00000322679.6_Silent_p.T48T|DIO1_ENST00000532493.1_Silent_p.T48T|DIO1_ENST00000534069.1_3'UTR|DIO1_ENST00000361921.3_Silent_p.T48T|DIO1_ENST00000524406.1_Intron	p.T48_splice			P49895	IOD1_HUMAN			1	144	+			48					Q1RN02|Q3KNP8|Q6Q4C1|Q6Q4C2|Q6Q4C3|Q6Q4C4|Q6Q4C5|Q6Q4C6|Q6Q4C7|Q6Q4C9|Q8WWC6	Splice_Site	SNP	ENST00000525202.1	37	c.145_splice	CCDS53320.1																																																																																				0.527	DIO1-013	KNOWN	basic|CCDS|seleno	protein_coding	protein_coding	OTTHUMT00000388176.1		Silent	14	64	0	0	0	1	0	14	64					A	54360027	G	A	54360027	5	1	175	1	0	0	0	0	0	0	1	0	4524	1130	39	2	146	2	DIO1	1	54360027	Splice_Site	SNP	G	TCGA-G9-6379-01A-11D-A31L-08		54360027	194890594	1	8264											
TTC7A	57217	broad.mit.edu	37	chr2	47278910	47278910	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cggcgggcttcgtccatcgcCgcctcccggctggaggaggc	3	6	16	16	6	0	0	0	0	0	0	4	2	2	2	4	6	0	2	4	6	0	1			TCGA-G9-6379-01A-11D-A31L-08	TCGA-G9-6379-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	184256e3-08e8-423a-bb1e-fbcf52d671d7	68f54bda-df0c-4b1e-a81e-9d90763711ac	g.chr2:47278910C>T	ENST00000319190.5	+	18	2411	c.2043C>T	c.(2041-2043)gcC>gcT	p.A681A	TTC7A_ENST00000409245.1_Silent_p.A647A|TTC7A_ENST00000394850.2_Silent_p.A705A|TTC7A_ENST00000263737.6_Silent_p.A327A	NM_020458.2	NP_065191.2	Q9ULT0	TTC7A_HUMAN	tetratricopeptide repeat domain 7A	681					cellular iron ion homeostasis (GO:0006879)|hemopoiesis (GO:0030097)					breast(4)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	25		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	Lung(47;0.0792)|LUSC - Lung squamous cell carcinoma(58;0.114)			CGTCCATCGCCGCCTCCCGGC	0.657																																						ENST00000319190.5																			0				breast(4)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	25						c.(2041-2043)gcC>gcT		tetratricopeptide repeat domain 7A							46	48	47					2																	47278910		2198	4290	6488	SO:0001819	synonymous_variant	57217						binding	g.chr2:47278910C>T	AB032966	CCDS33193.1, CCDS74510.1, CCDS74511.1	2p16.3	2013-01-10	2004-06-02	2004-06-02	ENSG00000068724	ENSG00000068724		"Tetratricopeptide (TTC) repeat domain containing"	19750	protein-coding gene	gene with protein product		609332	"tetratricopeptide repeat domain 7"	TTC7		10574461	Standard	XM_005264439		Approved	KIAA1140	uc002rvo.3	Q9ULT0	OTTHUMG00000153121	ENST00000319190.5:c.2043C>T	2.37:g.47278910C>T						TTC7A_ENST00000263737.6_Silent_p.A327A|TTC7A_ENST00000409245.1_Silent_p.A647A|TTC7A_ENST00000394850.2_Silent_p.A705A	p.A681A	NM_020458.2	NP_065191.2	Q9ULT0	TTC7A_HUMAN	Lung(47;0.0792)|LUSC - Lung squamous cell carcinoma(58;0.114)		18	2411	+		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	681					Q6PIX4|Q8ND67|Q9BUS3	Silent	SNP	ENST00000319190.5	37	c.2043C>T	CCDS33193.1																																																																																				0.657	TTC7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329667.2	XM_372927		16	57	0	0	0	1	0	16	57					T	47278910	C	T	47278910	2	4	175	1	0	0	0	0	0	0	0	1	16709	639	23	2		2	TTC7A	2	47278910	Silent	SNP	C	TCGA-G9-6379-01A-11D-A31L-08		47278910	195920463	2	8265											
SCN11A	11280	broad.mit.edu	37	chr3	38924806	38924806	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctatttggtagcaggttttcCgcaggttccaccaaatgacc	9	12	9	11	1	0	1	0	1	0	0	2	1	2	1	4	3	1	5	4	3	3	6	rs147061364	byFrequency	TCGA-G9-6379-01A-11D-A31L-08	TCGA-G9-6379-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	184256e3-08e8-423a-bb1e-fbcf52d671d7	68f54bda-df0c-4b1e-a81e-9d90763711ac	g.chr3:38924806C>T	ENST00000302328.3	-	18	3335	c.3137G>A	c.(3136-3138)cGg>cAg	p.R1046Q	SCN11A_ENST00000444237.2_Missense_Mutation_p.R1046Q|SCN11A_ENST00000456224.3_Missense_Mutation_p.R1008Q|SCN11A_ENST00000450244.1_Missense_Mutation_p.R1046Q	NM_014139.2	NP_054858.2	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	1046					cell death (GO:0008219)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|regulation of sensory perception of pain (GO:0051930)|response to drug (GO:0042493)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	C-fiber (GO:0044299)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)|Valproic Acid(DB00313)|Zonisamide(DB00909)	GCAGGTTTTCCGCAGGTTCCA	0.453																																						ENST00000450244.1																			0				NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119						c.(3136-3138)cGg>cAg		sodium channel, voltage-gated, type XI, alpha subunit	Cocaine(DB00907)	C	GLN/ARG	0,4406		0,0,2203	119	110	113		3137	5.6	1	3	dbSNP_134	113	2,8598	2.2+/-6.3	0,2,4298	no	missense	SCN11A	NM_014139.2	43	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	probably-damaging	1046/1792	38924806	2,13004	2203	4300	6503	SO:0001583	missense	11280				response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr3:38924806C>T	AF126739	CCDS33737.1	3p22.2	2012-02-26	2007-01-23		ENSG00000168356	ENSG00000168356		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10583	protein-coding gene	gene with protein product		604385	"sodium channel, voltage-gated, type XI, alpha polypeptide", "sodium channel, voltage-gated, type XII, alpha"	SCN12A		10444332, 16382098	Standard	NM_014139		Approved	Nav1.9, NaN, SNS-2	uc021wvy.1	Q9UI33	OTTHUMG00000048246	ENST00000302328.3:c.3137G>A	3.37:g.38924806C>T	ENSP00000307599:p.Arg1046Gln					SCN11A_ENST00000456224.3_Missense_Mutation_p.R1008Q|SCN11A_ENST00000444237.2_Missense_Mutation_p.R1046Q|SCN11A_ENST00000302328.3_Missense_Mutation_p.R1046Q	p.R1046Q			Q9UI33	SCNBA_HUMAN		Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	18	3335	-			1046					A6NN05|C9JD48|C9JR31|Q68K15|Q8NDX3|Q9UHE0|Q9UHM0	Missense_Mutation	SNP	ENST00000302328.3	37	c.3137G>A	CCDS33737.1	.	.	.	.	.	.	.	.	.	.	C	36	5.776834	0.96929	0.0	2.33E-4	ENSG00000168356	ENST00000302328;ENST00000450244;ENST00000456224;ENST00000444237	D;D;D;D	0.98090	-4.71;-4.71;-4.71;-4.71	5.57	5.57	0.84162	Sodium ion transport-associated (1);	0.000000	0.85682	D	0.000000	D	0.98905	0.9629	M	0.86805	2.84	0.53005	D	0.99996	D	0.89917	1.0	D	0.91635	0.999	D	0.99675	1.0997	10	0.87932	D	0	.	19.5175	0.95170	0.0:1.0:0.0:0.0	.	1046	Q9UI33	SCNBA_HUMAN	Q	1046;1046;1008;1046	ENSP00000307599:R1046Q;ENSP00000400945:R1046Q;ENSP00000416757:R1008Q;ENSP00000408028:R1046Q	ENSP00000307599:R1046Q	R	-	2	0	SCN11A	38899810	0.992000	0.36948	1.000000	0.80357	0.992000	0.81027	7.453000	0.80700	2.780000	0.95670	0.655000	0.94253	CGG		0.453	SCN11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109746.4	NM_014139		6	69	0	0	0	1	0	6	69					T	38924806	C	T	38924806	3	4	175	1	0	0	0	0	1	0	0	0	13913	652	23	2	2274	2	SCN11A	3	38924806	Missense_Mutation	SNP	C	TCGA-G9-6379-01A-11D-A31L-08		38924806	159097624	3	8266											
PAQR9	344838	broad.mit.edu	37	chr3	142681387	142681387	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gggttctccccacgcaggtcGaagagccagctctcgagcat	8	7	12	14	3	2	1	0	0	2	1	5	3	2	1	3	2	3	4	3	2	1	1	rs541022766		TCGA-G9-6379-01A-11D-A31L-08	TCGA-G9-6379-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	184256e3-08e8-423a-bb1e-fbcf52d671d7	68f54bda-df0c-4b1e-a81e-9d90763711ac	g.chr3:142681387G>A	ENST00000340634.3	-	1	791	c.792C>T	c.(790-792)ttC>ttT	p.F264F	RP11-372E1.6_ENST00000593321.1_RNA|RP11-372E1.6_ENST00000598139.1_RNA|RP11-372E1.6_ENST00000493825.1_RNA|RP11-372E1.6_ENST00000607937.1_RNA|RP11-372E1.6_ENST00000478823.1_RNA|RP11-372E1.6_ENST00000595774.1_RNA|RP11-372E1.6_ENST00000594095.1_RNA|RP11-372E1.6_ENST00000497652.1_RNA|RP11-372E1.6_ENST00000608349.1_RNA|RP11-372E1.6_ENST00000595248.1_RNA|RP11-372E1.6_ENST00000598787.1_RNA|RP11-372E1.6_ENST00000608686.1_RNA	NM_198504.2	NP_940906.1	Q6ZVX9	PAQR9_HUMAN	progestin and adipoQ receptor family member IX	264						integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			endometrium(2)|large_intestine(7)|lung(12)|prostate(1)	22						CACGCAGGTCGAAGAGCCAGC	0.622													g|||	1	0.000199681	0	0	5008	,	,		19464	0		0	False		,,,				2504	0.001					ENST00000340634.3																			0				endometrium(2)|large_intestine(7)|lung(12)|prostate(1)	22						c.(790-792)ttC>ttT		progestin and adipoQ receptor family member IX							76	75	75					3																	142681387		2203	4300	6503	SO:0001819	synonymous_variant	344838					integral to membrane	receptor activity	g.chr3:142681387G>A	AY424287	CCDS3128.1	3q23	2008-05-02			ENSG00000188582	ENSG00000188582			30131	protein-coding gene	gene with protein product		614580					Standard	NM_198504		Approved	FLJ41938	uc003evg.3	Q6ZVX9	OTTHUMG00000159313	ENST00000340634.3:c.792C>T	3.37:g.142681387G>A							p.F264F	NM_198504.2	NP_940906.1	Q6ZVX9	PAQR9_HUMAN			1	791	-			264					Q147T6	Silent	SNP	ENST00000340634.3	37	c.792C>T	CCDS3128.1	.	.	.	.	.	.	.	.	.	.	g	8.562	0.878037	0.17395	.	.	ENSG00000188582	ENST00000492509	.	.	.	5.52	0.677	0.17964	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-21.0781	9.7638	0.40548	0.3937:0.0:0.6063:0.0	.	.	.	.	X	5	.	.	R	-	1	2	PAQR9	144164077	0.944000	0.32072	0.997000	0.53966	0.988000	0.76386	0.127000	0.15790	0.055000	0.16094	-0.119000	0.15052	CGA		0.622	PAQR9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354538.1	NM_198504		4	84	0	0	0	1	0	4	84					A	142681387	G	A	142681387	2	1	175	1	0	0	0	0	0	0	0	1	11442	1049	37	2		2	PAQR9	3	142681387	Silent	SNP	G	TCGA-G9-6379-01A-11D-A31L-08	103756581	142681387	55341043	4	8267											
HHIP	64399	broad.mit.edu	37	chr4	145629382	145629382	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	catgtgcaacgtgccttattCcataccaaggagcaacccac	12	8	7	14	1	0	0	0	0	0	0	1	1	1	1	4	1	6	2	4	1	5	3	rs202180617		TCGA-G9-6379-01A-11D-A31L-08	TCGA-G9-6379-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	184256e3-08e8-423a-bb1e-fbcf52d671d7	68f54bda-df0c-4b1e-a81e-9d90763711ac	g.chr4:145629382C>A	ENST00000296575.3	+	7	1875	c.1220C>A	c.(1219-1221)tCc>tAc	p.S407Y		NM_022475.2	NP_071920.1	Q96QV1	HHIP_HUMAN	hedgehog interacting protein	407					carbohydrate metabolic process (GO:0005975)|dorsal/ventral pattern formation (GO:0009953)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|negative regulation of signal transduction (GO:0009968)|negative regulation of smoothened signaling pathway (GO:0045879)|neuroblast proliferation (GO:0007405)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|skeletal system morphogenesis (GO:0048705)|smoothened signaling pathway (GO:0007224)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	hedgehog family protein binding (GO:0097108)|oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor (GO:0016901)|quinone binding (GO:0048038)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	33	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0185)		GTGCCTTATTCCATACCAAGG	0.507																																						ENST00000296575.3																			0				central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	33						c.(1219-1221)tCc>tAc		hedgehog interacting protein							144	114	124					4																	145629382		2203	4300	6503	SO:0001583	missense	64399					cytoplasm|extracellular region	catalytic activity|protein binding|zinc ion binding	g.chr4:145629382C>A	AK024645	CCDS3762.1	4q31.21-q31.3	2008-08-29	2001-11-29		ENSG00000164161	ENSG00000164161			14866	protein-coding gene	gene with protein product		606178	"hedgehog-interacting protein"			11435703, 11731473	Standard	NM_022475		Approved	HIP, FLJ20992	uc003ijs.2	Q96QV1	OTTHUMG00000161428	ENST00000296575.3:c.1220C>A	4.37:g.145629382C>A	ENSP00000296575:p.Ser407Tyr						p.S407Y	NM_022475.2	NP_071920.1	Q96QV1	HHIP_HUMAN		GBM - Glioblastoma multiforme(119;0.0185)	7	1875	+	all_hematologic(180;0.151)		407					Q6PK09|Q8NCI7|Q9BXK3|Q9H1J4|Q9H7E7	Missense_Mutation	SNP	ENST00000296575.3	37	c.1220C>A	CCDS3762.1	.	.	.	.	.	.	.	.	.	.	C	33	5.233703	0.95207	.	.	ENSG00000164161	ENST00000296575	T	0.12361	2.69	5.93	5.93	0.95920	Soluble quinoprotein glucose/sorbosone dehydrogenase (1);Six-bladed beta-propeller, TolB-like (1);	0.049067	0.85682	D	0.000000	T	0.38957	0.1060	M	0.64080	1.96	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.02625	-1.1132	10	0.72032	D	0.01	-11.6128	20.3398	0.98759	0.0:1.0:0.0:0.0	.	407	Q96QV1	HHIP_HUMAN	Y	407	ENSP00000296575:S407Y	ENSP00000296575:S407Y	S	+	2	0	HHIP	145848832	1.000000	0.71417	0.988000	0.46212	0.996000	0.88848	7.487000	0.81328	2.811000	0.96726	0.557000	0.71058	TCC		0.507	HHIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364887.2			8	59	1	0	5.4927e-09	1	6.08651e-09	8	59					A	145629382	C	A	145629382	3	1	175	1	0	0	0	0	1	0	0	0	7092	855	30	5	1246	5	HHIP	4	145629382	Missense_Mutation	SNP	C	TCGA-G9-6379-01A-11D-A31L-08		145629382	45524894	5	8268											
CCDC112	153733	broad.mit.edu	37	chr5	114611297	114611297	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttctcttctttaattagctcTtcatatctaaaattttaaaa	13	20	1	7	0	5	0	1	0	4	0	6	0	5	0	0	0	1	1	0	0	7	10			TCGA-G9-6379-01A-11D-A31L-08	TCGA-G9-6379-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	184256e3-08e8-423a-bb1e-fbcf52d671d7	68f54bda-df0c-4b1e-a81e-9d90763711ac	g.chr5:114611297T>A	ENST00000512261.1	-	7	701	c.285A>T	c.(283-285)gaA>gaT	p.E95D	CCDC112_ENST00000503027.1_5'UTR|CCDC112_ENST00000395557.4_Missense_Mutation_p.E95D|CCDC112_ENST00000506442.1_Missense_Mutation_p.E95D|CCDC112_ENST00000379611.5_Missense_Mutation_p.E178D			Q8NEF3	CC112_HUMAN	coiled-coil domain containing 112	95										endometrium(2)|kidney(1)|large_intestine(8)|lung(8)|skin(1)	20		all_cancers(142;0.000523)|all_epithelial(76;6.44e-06)|Prostate(80;0.00955)|Ovarian(225;0.0443)|all_lung(232;0.132)|Breast(839;0.195)		OV - Ovarian serous cystadenocarcinoma(64;4.09e-08)|Epithelial(69;5.28e-08)|all cancers(49;7.06e-06)		TAATTAGCTCTTCATATCTAA	0.289																																						ENST00000379611.5																			0				endometrium(2)|kidney(1)|large_intestine(8)|lung(8)|skin(1)	20						c.(532-534)gaA>gaT		coiled-coil domain containing 112							41	44	43					5																	114611297		2198	4297	6495	SO:0001583	missense	153733							g.chr5:114611297T>A	BC031242	CCDS4117.1, CCDS34213.1	5q22.3	2009-04-17			ENSG00000164221	ENSG00000164221			28599	protein-coding gene	gene with protein product						12477932	Standard	NM_001040440		Approved	MGC39633	uc003kqz.2	Q8NEF3	OTTHUMG00000128894	ENST00000512261.1:c.285A>T	5.37:g.114611297T>A	ENSP00000423712:p.Glu95Asp					CCDC112_ENST00000512261.1_Missense_Mutation_p.E95D|CCDC112_ENST00000503027.1_5'UTR|CCDC112_ENST00000395557.4_Missense_Mutation_p.E95D|CCDC112_ENST00000506442.1_Missense_Mutation_p.E95D	p.E178D	NM_001040440.2	NP_001035530.1	Q8NEF3	CC112_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;4.09e-08)|Epithelial(69;5.28e-08)|all cancers(49;7.06e-06)	6	821	-		all_cancers(142;0.000523)|all_epithelial(76;6.44e-06)|Prostate(80;0.00955)|Ovarian(225;0.0443)|all_lung(232;0.132)|Breast(839;0.195)	95					Q6A334	Missense_Mutation	SNP	ENST00000512261.1	37	c.534A>T	CCDS4117.1	.	.	.	.	.	.	.	.	.	.	T	13.55	2.269593	0.40095	.	.	ENSG00000164221	ENST00000379611;ENST00000512261;ENST00000506442;ENST00000395557	T;T;T;T	0.25749	1.87;1.85;1.78;1.85	5.74	3.23	0.37069	.	0.089291	0.85682	D	0.000000	T	0.21881	0.0527	L	0.51422	1.61	0.30606	N	0.760016	B;B;B	0.14805	0.011;0.011;0.005	B;B;B	0.19946	0.027;0.027;0.017	T	0.14090	-1.0485	10	0.54805	T	0.06	-24.6283	6.1656	0.20388	0.2517:0.0682:0.0:0.6802	.	95;178;95	D6RF76;Q8NEF3-2;Q8NEF3	.;.;CC112_HUMAN	D	178;95;95;95	ENSP00000368931:E178D;ENSP00000423712:E95D;ENSP00000424876:E95D;ENSP00000378925:E95D	ENSP00000368931:E178D	E	-	3	2	CCDC112	114639196	1.000000	0.71417	1.000000	0.80357	0.884000	0.51177	1.663000	0.37429	0.379000	0.24794	0.528000	0.53228	GAA		0.289	CCDC112-003	PUTATIVE	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000370999.1	NM_152549		5	40	0	0	0	1	0	5	40					A	114611297	T	A	114611297	3	1	175	1	0	0	0	0	1	0	0	0	2749	1606	56	5	1075	5	CCDC112	5	114611297	Missense_Mutation	SNP	T	TCGA-G9-6379-01A-11D-A31L-08		114611297	66303963	6	8269											
ATP10B	23120	broad.mit.edu	37	chr5	160047852	160047852	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtctgtgtcagagggtgcagTggatgagaatgactggctga	9	10	17	5	0	2	4	1	3	1	2	2	6	2	5	0	3	1	2	0	3	1	0			TCGA-G9-6379-01A-11D-A31L-08	TCGA-G9-6379-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	184256e3-08e8-423a-bb1e-fbcf52d671d7	68f54bda-df0c-4b1e-a81e-9d90763711ac	g.chr5:160047852T>C	ENST00000327245.5	-	15	2764	c.1918A>G	c.(1918-1920)Act>Gct	p.T640A	CTC-348L5.1_ENST00000523598.1_RNA	NM_025153.2	NP_079429.2	O94823	AT10B_HUMAN	ATPase, class V, type 10B	640					phospholipid translocation (GO:0045332)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GAGGGTGCAGTGGATGAGAAT	0.552																																						ENST00000327245.5																			0				NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75						c.(1918-1920)Act>Gct		ATPase, class V, type 10B							110	114	113					5																	160047852		2100	4223	6323	SO:0001583	missense	23120				ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr5:160047852T>C	AB018258	CCDS43394.1	5q34	2010-04-20	2007-09-19		ENSG00000118322	ENSG00000118322		"ATPases / P-type"	13543	protein-coding gene	gene with protein product			"ATPase, Class V, type 10B"			9872452, 11015572	Standard	NM_025153		Approved	ATPVB, KIAA0715, FLJ21477	uc003lym.1	O94823	OTTHUMG00000163551	ENST00000327245.5:c.1918A>G	5.37:g.160047852T>C	ENSP00000313600:p.Thr640Ala					CTC-348L5.1_ENST00000523598.1_RNA	p.T640A	NM_025153.2	NP_079429.2	O94823	AT10B_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		15	2764	-	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	640					Q9H725	Missense_Mutation	SNP	ENST00000327245.5	37	c.1918A>G	CCDS43394.1	.	.	.	.	.	.	.	.	.	.	T	6.641	0.486777	0.12641	.	.	ENSG00000118322	ENST00000327245;ENST00000520108	D;D	0.85411	-1.98;-1.98	5.53	4.32	0.51571	HAD-like domain (1);	0.587140	0.17590	N	0.168811	T	0.76118	0.3943	N	0.21194	0.64	0.30651	N	0.755423	P;B	0.34462	0.454;0.139	B;B	0.38156	0.266;0.088	T	0.72821	-0.4177	9	.	.	.	.	10.1438	0.42751	0.2508:0.0:0.0:0.7492	.	248;640	Q2YDW8;O94823	.;AT10B_HUMAN	A	640;248	ENSP00000313600:T640A;ENSP00000431081:T248A	.	T	-	1	0	ATP10B	159980430	0.989000	0.36119	0.798000	0.32154	0.957000	0.61999	1.211000	0.32382	2.107000	0.64212	0.533000	0.62120	ACT		0.552	ATP10B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374127.1	NM_025153		10	154	0	0	0	1	0	10	154					C	160047852	T	C	160047852	3	2	175	1	0	0	0	0	1	0	0	0	1117	1696	59	4	2515	4	ATP10B	5	160047852	Missense_Mutation	SNP	T	TCGA-G9-6379-01A-11D-A31L-08	45436555	160047852	20867408	7	8270											
POM121L12	285877	broad.mit.edu	37	chr7	53103623	53103623	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcggcccacccaggaccccGccaagccgcagcgggtggtc	6	3	14	18	4	0	0	0	0	0	0	1	1	0	1	6	4	3	1	6	4	1	0			TCGA-G9-6379-01A-11D-A31L-08	TCGA-G9-6379-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	184256e3-08e8-423a-bb1e-fbcf52d671d7	68f54bda-df0c-4b1e-a81e-9d90763711ac	g.chr7:53103623G>A	ENST00000408890.4	+	1	275	c.259G>A	c.(259-261)Gcc>Acc	p.A87T		NM_182595.3	NP_872401.3	Q8N7R1	P1L12_HUMAN	POM121 transmembrane nucleoporin-like 12	87										endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						CCAGGACCCCGCCAAGCCGCA	0.701																																						ENST00000408890.4																			0				endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						c.(259-261)Gcc>Acc		POM121 transmembrane nucleoporin-like 12							13	16	15					7																	53103623		1851	4054	5905	SO:0001583	missense	285877							g.chr7:53103623G>A		CCDS43584.1	7p12.1	2012-03-13	2012-03-13		ENSG00000221900	ENSG00000221900			25369	protein-coding gene	gene with protein product			"POM121 membrane glycoprotein-like 12"				Standard	NM_182595		Approved	DKFZp564N2472	uc003tpz.3	Q8N7R1	OTTHUMG00000155995	ENST00000408890.4:c.259G>A	7.37:g.53103623G>A	ENSP00000386133:p.Ala87Thr						p.A87T	NM_182595.3	NP_872401.3	Q8N7R1	P1L12_HUMAN			1	275	+			87					Q8NDI9	Missense_Mutation	SNP	ENST00000408890.4	37	c.259G>A	CCDS43584.1	.	.	.	.	.	.	.	.	.	.	G	0.728	-0.780972	0.02929	.	.	ENSG00000221900	ENST00000408890	T	0.22945	1.93	2.42	-4.83	0.03161	.	.	.	.	.	T	0.11793	0.0287	N	0.20685	0.6	0.09310	N	1	B	0.13145	0.007	B	0.06405	0.002	T	0.34800	-0.9814	9	0.11182	T	0.66	.	7.6738	0.28473	0.1595:0.2985:0.5421:0.0	.	87	Q8N7R1	P1L12_HUMAN	T	87	ENSP00000386133:A87T	ENSP00000386133:A87T	A	+	1	0	POM121L12	53071117	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-6.103000	0.00080	-2.432000	0.00556	-2.137000	0.00340	GCC		0.701	POM121L12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342656.1	NM_182595		11	26	0	0	0	1	0	11	26					A	53103623	G	A	53103623	3	1	175	1	0	0	0	0	1	0	0	0	12241	1087	38	1	261	1	POM121L12	7	53103623	Missense_Mutation	SNP	G	TCGA-G9-6379-01A-11D-A31L-08		53103623	106035040	8	8271											
ABCB1	5243	broad.mit.edu	37	chr7	87225083	87225083	+	Splice_Site	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taataaattcaaaactcaccAttgaaaatacactgacagtt	19	11	3	8	0	2	2	2	2	0	0	2	2	2	2	1	0	2	1	1	0	8	6			TCGA-G9-6379-01A-11D-A31L-08	TCGA-G9-6379-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	184256e3-08e8-423a-bb1e-fbcf52d671d7	68f54bda-df0c-4b1e-a81e-9d90763711ac	g.chr7:87225083A>T	ENST00000265724.3	-	4	533	c.116T>A	c.(115-117)aTg>aAg	p.M39K	ABCB1_ENST00000543898.1_Splice_Site_p.M39K	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 1	39					drug transmembrane transport (GO:0006855)|G2/M transition of mitotic cell cycle (GO:0000086)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|stem cell proliferation (GO:0072089)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)|xenobiotic-transporting ATPase activity (GO:0008559)			NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111	Esophageal squamous(14;0.00164)				Acebutolol(DB01193)|Acetaminophen(DB00316)|Acetylsalicylic acid(DB00945)|Adenosine triphosphate(DB00171)|ado-trastuzumab emtansine(DB05773)|Afatinib(DB08916)|Albendazole(DB00518)|Alfentanil(DB00802)|Alitretinoin(DB00523)|Amantadine(DB00915)|Aminohippurate(DB00345)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amprenavir(DB00701)|Amsacrine(DB00276)|Apixaban(DB06605)|Arsenic trioxide(DB01169)|Astemizole(DB00637)|Atazanavir(DB01072)|Atenolol(DB00335)|Atorvastatin(DB01076)|Axitinib(DB06626)|Azelastine(DB00972)|Azithromycin(DB00207)|Benzocaine(DB01086)|Bepridil(DB01244)|Betamethasone(DB00443)|Biperiden(DB00810)|Boceprevir(DB08873)|Bosutinib(DB06616)|Brentuximab vedotin(DB08870)|Bromocriptine(DB01200)|Buprenorphine(DB00921)|Buspirone(DB00490)|Cabazitaxel(DB06772)|Caffeine(DB00201)|Canagliflozin(DB08907)|Candesartan(DB00796)|Captopril(DB01197)|Carbamazepine(DB00564)|Carfilzomib(DB08889)|Carvedilol(DB01136)|Caspofungin(DB00520)|Chloroquine(DB00608)|Chlorpromazine(DB00477)|Chlorpropamide(DB00672)|Chlorprothixene(DB01239)|Cilazapril(DB01340)|Cimetidine(DB00501)|Ciprofloxacin(DB00537)|Cisplatin(DB00515)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Clofazimine(DB00845)|Clomifene(DB00882)|Clomipramine(DB01242)|Clonidine(DB00575)|Clopidogrel(DB00758)|Clotrimazole(DB00257)|Clozapine(DB00363)|Colchicine(DB01394)|Conjugated Estrogens(DB00286)|Crizotinib(DB08865)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dabigatran etexilate(DB06695)|Dabrafenib(DB08912)|Dactinomycin(DB00970)|Dapagliflozin(DB06292)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Debrisoquin(DB04840)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexamethasone(DB01234)|Dextromethorphan(DB00514)|Diazepam(DB00829)|Diclofenac(DB00586)|Diethylstilbestrol(DB00255)|Digitoxin(DB01396)|Digoxin(DB00390)|Dihydroergotamine(DB00320)|Diltiazem(DB00343)|Dipyridamole(DB00975)|Docetaxel(DB01248)|Domperidone(DB01184)|Doxazosin(DB00590)|Doxepin(DB01142)|Doxorubicin(DB00997)|Dronabinol(DB00470)|Dronedarone(DB04855)|Eletriptan(DB00216)|Enalapril(DB00584)|Enzalutamide(DB08899)|Epinastine(DB00751)|Ergonovine(DB01253)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estrone(DB00655)|Ethinyl Estradiol(DB00977)|Etoposide(DB00773)|Etravirine(DB06414)|Ezetimibe(DB00973)|Felodipine(DB01023)|Fentanyl(DB00813)|Fesoterodine(DB06702)|Fexofenadine(DB00950)|Fidaxomicin(DB08874)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flupentixol(DB00875)|Fluphenazine(DB00623)|Flurazepam(DB00690)|Fluticasone furoate(DB08906)|Fluvoxamine(DB00176)|Gefitinib(DB00317)|Gemcitabine(DB00441)|Glyburide(DB01016)|Gramicidin D(DB00027)|Haloperidol(DB00502)|Hydrocortisone(DB00741)|Ibuprofen(DB01050)|Imatinib(DB00619)|Imipramine(DB00458)|Indacaterol(DB05039)|Indinavir(DB00224)|Indomethacin(DB00328)|Irinotecan(DB00762)|Itraconazole(DB01167)|Ivacaftor(DB08820)|Ivermectin(DB00602)|Ketamine(DB01221)|Ketazolam(DB01587)|Ketoconazole(DB01026)|Lamivudine(DB00709)|Lamotrigine(DB00555)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Lenalidomide(DB00480)|Levetiracetam(DB01202)|Levofloxacin(DB01137)|Levomilnacipran(DB08918)|Levothyroxine(DB00451)|Lidocaine(DB00281)|Linagliptin(DB08882)|Liothyronine(DB00279)|Liotrix(DB01583)|Lisinopril(DB00722)|Lomitapide(DB08827)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Losartan(DB00678)|Lovastatin(DB00227)|Mannitol(DB00742)|Maprotiline(DB00934)|Mebendazole(DB00643)|Mefloquine(DB00358)|Megestrol acetate(DB00351)|Meprobamate(DB00371)|Methadone(DB00333)|Methotrexate(DB00563)|Methylprednisolone(DB00959)|Metoprolol(DB00264)|Miconazole(DB01110)|Midazolam(DB00683)|Mifepristone(DB00834)|Mirabegron(DB08893)|Mitomycin(DB00305)|Mitoxantrone(DB01204)|Morphine(DB00295)|Mycophenolate mofetil(DB00688)|Nadolol(DB01203)|Naloxone(DB01183)|Naltrexone(DB00704)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Neostigmine(DB01400)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nisoldipine(DB00401)|Nitrazepam(DB01595)|Nitrendipine(DB01054)|Nizatidine(DB00585)|Norethindrone(DB00717)|Olanzapine(DB00334)|Omeprazole(DB00338)|Paclitaxel(DB01229)|Pantoprazole(DB00213)|Paroxetine(DB00715)|Pazopanib(DB06589)|Perindopril(DB00790)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Pimozide(DB01100)|Pitavastatin(DB08860)|Pomalidomide(DB08910)|Ponatinib(DB08901)|Posaconazole(DB01263)|Pravastatin(DB00175)|Prazosin(DB00457)|Prednisolone(DB00860)|Prednisone(DB00635)|Probenecid(DB01032)|Progesterone(DB00396)|Promethazine(DB01069)|Propafenone(DB01182)|Propranolol(DB00571)|Protriptyline(DB00344)|Quetiapine(DB01224)|Quinacrine(DB01103)|Quinidine(DB00908)|Quinine(DB00468)|Ranitidine(DB00863)|Reboxetine(DB00234)|Regorafenib(DB08896)|Reserpine(DB00206)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Risperidone(DB00734)|Ritonavir(DB00503)|Rivaroxaban(DB06228)|Roxithromycin(DB00778)|Salicylic acid(DB00936)|Saquinavir(DB01232)|Scopolamine(DB00747)|Selegiline(DB01037)|Sertraline(DB01104)|Silodosin(DB06207)|SIMEPREVIR(DB06290)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sitagliptin(DB01261)|SOFOSBUVIR(DB08934)|Sorafenib(DB00398)|Sparfloxacin(DB01208)|Spironolactone(DB00421)|Streptozocin(DB00428)|Sulfinpyrazone(DB01138)|Sumatriptan(DB00669)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tamoxifen(DB00675)|Telaprevir(DB05521)|Telmisartan(DB00966)|Temsirolimus(DB06287)|Terazosin(DB01162)|Testosterone(DB00624)|Ticagrelor(DB08816)|Timolol(DB00373)|Tolvaptan(DB06212)|Topotecan(DB01030)|Toremifene(DB00539)|Trazodone(DB00656)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Trimethoprim(DB00440)|Trimipramine(DB00726)|Troleandomycin(DB01361)|Vecuronium(DB01339)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)|Vinorelbine(DB00361)|Vismodegib(DB08828)|Voacamine(DB04877)|Zidovudine(DB00495)	AAAACTCACCATTGAAAATAC	0.274																																						ENST00000265724.3																			0				NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111						c.e4+1		ATP-binding cassette, sub-family B (MDR/TAP), member 1	Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570)						59	62	61					7																	87225083		2196	4288	6484	SO:0001630	splice_region_variant	5243				G2/M transition of mitotic cell cycle|stem cell proliferation	apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction	ATP binding|protein binding|xenobiotic-transporting ATPase activity	g.chr7:87225083A>T	M14758	CCDS5608.1	7q21.12	2012-03-14	2004-05-12		ENSG00000085563	ENSG00000085563		"CD molecules", "ATP binding cassette transporters / subfamily B"	40	protein-coding gene	gene with protein product	"multidrug resistance protein 1"	171050	"colchicin sensitivity"	PGY1, MDR1, CLCS		3027054	Standard	NM_000927		Approved	P-gp, CD243, GP170, ABC20	uc003uiz.2	P08183	OTTHUMG00000023393	ENST00000265724.3:c.117+1T>A	7.37:g.87225083A>T						ABCB1_ENST00000543898.1_Splice_Site_p.M39_splice	p.M39_splice	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN			4	533	-	Esophageal squamous(14;0.00164)		39					A8K294|B5AK60|Q12755|Q14812	Splice_Site	SNP	ENST00000265724.3	37	c.117_splice	CCDS5608.1	.	.	.	.	.	.	.	.	.	.	A	10.87	1.472275	0.26423	.	.	ENSG00000085563	ENST00000265724;ENST00000543898;ENST00000416177	T;T;T	0.76968	-1.06;-1.06;0.97	4.96	4.96	0.65561	ABC transporter, transmembrane domain, type 1 (1);	0.414511	0.30999	N	0.008454	T	0.59473	0.2196	N	0.08118	0	0.32252	N	0.571352	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.65405	-0.6176	10	0.87932	D	0	-15.3234	11.1923	0.48691	1.0:0.0:0.0:0.0	.	39;39	B5AK60;P08183	.;MDR1_HUMAN	K	39	ENSP00000265724:M39K;ENSP00000444095:M39K;ENSP00000399419:M39K	ENSP00000265724:M39K	M	-	2	0	ABCB1	87063019	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	3.864000	0.56024	2.205000	0.71048	0.454000	0.30748	ATG		0.274	ABCB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335444.2	NM_000927	Missense_Mutation	4	32	0	0	0	1	0	4	32					T	87225083	A	T	87225083	5	4	175	1	0	0	0	0	0	0	1	0	40	231	8	5	3830	5	ABCB1	7	87225083	Splice_Site	SNP	A	TCGA-G9-6379-01A-11D-A31L-08	34121460	87225083	71913580	9	8272											
PLXNA4	91584	broad.mit.edu	37	chr7	132169640	132169640	+	Intron	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctggactctctgatctgataTtgctttgtgacttgagcact	7	16	9	9	0	2	4	0	4	2	0	3	5	2	5	0	1	2	2	0	1	1	4			TCGA-G9-6379-01A-11D-A31L-08	TCGA-G9-6379-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	184256e3-08e8-423a-bb1e-fbcf52d671d7	68f54bda-df0c-4b1e-a81e-9d90763711ac	g.chr7:132169640T>C	ENST00000359827.3	-	3	2334				PLXNA4_ENST00000321063.4_Intron|PLXNA4_ENST00000378539.5_Missense_Mutation_p.I502V|PLXNA4_ENST00000423507.2_Intron			Q9HCM2	PLXA4_HUMAN	plexin A4						anterior commissure morphogenesis (GO:0021960)|axon guidance (GO:0007411)|chemorepulsion of branchiomotor axon (GO:0021793)|facial nerve structural organization (GO:0021612)|glossopharyngeal nerve morphogenesis (GO:0021615)|postganglionic parasympathetic nervous system development (GO:0021784)|regulation of axon extension involved in axon guidance (GO:0048841)|regulation of negative chemotaxis (GO:0050923)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|sympathetic nervous system development (GO:0048485)|trigeminal nerve structural organization (GO:0021637)|vagus nerve morphogenesis (GO:0021644)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)			NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						TGATCTGATATTGCTTTGTGA	0.448																																						ENST00000378539.5																			0				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						c.(1504-1506)Ata>Gta		plexin A4							110	104	106					7																	132169640		2203	4300	6503	SO:0001627	intron_variant	91584					integral to membrane|intracellular|plasma membrane		g.chr7:132169640T>C	AB046770, AK123428	CCDS5826.1, CCDS43646.1, CCDS43647.1	7q32.3	2007-09-26	2007-09-26	2007-09-26	ENSG00000221866	ENSG00000221866		"Plexins"	9102	protein-coding gene	gene with protein product		604280	"plexin A4, A", "plexin A4, B"	PLXNA4A, PLXNA4B			Standard	NM_181775		Approved	KIAA1550, DKFZp434G0625PRO34003, FAYV2820	uc003vra.4	Q9HCM2	OTTHUMG00000155108	ENST00000359827.3:c.1371+4410A>G	7.37:g.132169640T>C						PLXNA4_ENST00000359827.3_Intron|PLXNA4_ENST00000321063.4_Intron|PLXNA4_ENST00000423507.2_Intron	p.I502V	NM_181775.3	NP_861440.2	Q9HCM2	PLXA4_HUMAN			5	1880	-			0			Sema.		A4D1N6|E9PAM2|Q6UWC6|Q6ZW89|Q8N969|Q8ND00|Q8NEN3|Q9NTD4	Missense_Mutation	SNP	ENST00000359827.3	37	c.1504A>G	CCDS43646.1	.	.	.	.	.	.	.	.	.	.	T	0.009	-1.799356	0.00617	.	.	ENSG00000221866	ENST00000378539	T	0.02369	4.32	3.24	-0.406	0.12389	.	.	.	.	.	T	0.01353	0.0044	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.47661	-0.9100	9	0.02654	T	1	.	7.2626	0.26212	0.0:0.3534:0.0:0.6466	.	502	A4D1N6	.	V	502	ENSP00000367800:I502V	ENSP00000367800:I502V	I	-	1	0	PLXNA4	131820180	0.000000	0.05858	0.000000	0.03702	0.111000	0.19643	-0.168000	0.09925	-0.379000	0.07906	-2.109000	0.00356	ATA		0.448	PLXNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338422.2	NM_181775		16	74	0	0	0	1	0	16	74					C	132169640	T	C	132169640	1	2	175	0	1	0	0	0	0	0	0	0	12122	1493	52	4		4	PLXNA4	7	132169640	Intron	SNP	T	TCGA-G9-6379-01A-11D-A31L-08	44944557	132169640	26969023	10	8273											
RP1L1	94137	broad.mit.edu	37	chr8	10480545	10480545	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgctgaaggtcttaaaggcgCgctggtgaacggccaggcgg	8	6	17	10	5	1	2	0	2	1	0	1	2	1	2	1	6	1	2	1	6	4	1			TCGA-G9-6379-01A-11D-A31L-08	TCGA-G9-6379-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	184256e3-08e8-423a-bb1e-fbcf52d671d7	68f54bda-df0c-4b1e-a81e-9d90763711ac	g.chr8:10480545C>T	ENST00000382483.3	-	2	390	c.167G>A	c.(166-168)cGc>cAc	p.R56H	RP1L1_ENST00000329335.3_5'UTR	NM_178857.5	NP_849188.4	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	56	Doublecortin 1. {ECO:0000255|PROSITE- ProRule:PRU00072}.		R -> C.		cell projection organization (GO:0030030)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|visual perception (GO:0007601)	axoneme (GO:0005930)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|photoreceptor connecting cilium (GO:0032391)|photoreceptor outer segment (GO:0001750)				breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		CTTAAAGGCGCGCTGGTGAAC	0.652																																						ENST00000382483.3																			0				breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148						c.(166-168)cGc>cAc		retinitis pigmentosa 1-like 1							37	43	41					8																	10480545		2103	4206	6309	SO:0001583	missense	94137				intracellular signal transduction			g.chr8:10480545C>T	AY168346	CCDS43708.1	8p23.1	2011-12-06			ENSG00000183638	ENSG00000183638			15946	protein-coding gene	gene with protein product		608581				12634863	Standard	NM_178857		Approved	DCDC4B	uc003wtc.3	Q8IWN7	OTTHUMG00000163806	ENST00000382483.3:c.167G>A	8.37:g.10480545C>T	ENSP00000371923:p.Arg56His					RP1L1_ENST00000329335.3_5'UTR	p.R56H	NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN		COAD - Colon adenocarcinoma(149;0.0811)	2	390	-			56					Q86SQ1|Q8IWN8|Q8IWN9|Q8IWP0|Q8IWP1|Q8IWP2	Missense_Mutation	SNP	ENST00000382483.3	37	c.167G>A	CCDS43708.1	.	.	.	.	.	.	.	.	.	.	c	34	5.370372	0.95900	.	.	ENSG00000183638	ENST00000382483	D	0.94138	-3.36	4.65	4.65	0.58169	.	.	.	.	.	D	0.96081	0.8723	M	0.66439	2.03	0.58432	D	0.999998	D	0.89917	1.0	D	0.91635	0.999	D	0.96596	0.9441	9	0.87932	D	0	-22.8248	16.6773	0.85282	0.0:1.0:0.0:0.0	.	56	A6NKC6	.	H	56	ENSP00000371923:R56H	ENSP00000371923:R56H	R	-	2	0	RP1L1	10517955	1.000000	0.71417	0.950000	0.38849	0.990000	0.78478	7.016000	0.76393	2.412000	0.81896	0.457000	0.33378	CGC		0.652	RP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375673.1			10	68	0	0	0	1	0	10	68					T	10480545	C	T	10480545	3	4	175	1	0	0	0	0	1	0	0	0	13533	768	27	1	7047	1	RP1L1	8	10480545	Missense_Mutation	SNP	C	TCGA-G9-6379-01A-11D-A31L-08		10480545	135883477	11	8274											
LZTS2	84445	broad.mit.edu	37	chr10	102762582	102762582	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctacatcaatgaggacttccGgacagagtcaccccccagcc	11	6	8	16	1	2	2	2	1	0	1	3	4	3	4	5	2	2	0	5	2	2	2			TCGA-G9-6379-01A-11D-A31L-08	TCGA-G9-6379-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	184256e3-08e8-423a-bb1e-fbcf52d671d7	68f54bda-df0c-4b1e-a81e-9d90763711ac	g.chr10:102762582G>A	ENST00000370220.1	+	1	3350	c.287G>A	c.(286-288)cGg>cAg	p.R96Q	LZTS2_ENST00000370223.3_Missense_Mutation_p.R96Q					leucine zipper, putative tumor suppressor 2											breast(1)|large_intestine(6)|lung(7)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22				Epithelial(162;7.3e-09)|all cancers(201;3.72e-07)		GAGGACTTCCGGACAGAGTCA	0.627																																					Esophageal Squamous(8;38 437 13604 19902 37640)	ENST00000370220.1																			0				breast(1)|large_intestine(6)|lung(7)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22						c.(286-288)cGg>cAg		leucine zipper, putative tumor suppressor 2							46	48	47					10																	102762582		2203	4300	6503	SO:0001583	missense	84445				cell division|mitosis|Wnt receptor signaling pathway	membrane|microtubule|microtubule organizing center		g.chr10:102762582G>A	AB058716	CCDS7507.1	10q24	2004-03-18			ENSG00000107816	ENSG00000107816			29381	protein-coding gene	gene with protein product		610454				11347906, 11709705	Standard	NM_032429		Approved	KIAA1813, LAPSER1	uc001ksj.3	Q9BRK4	OTTHUMG00000018914	ENST00000370220.1:c.287G>A	10.37:g.102762582G>A	ENSP00000359240:p.Arg96Gln					LZTS2_ENST00000370223.3_Missense_Mutation_p.R96Q	p.R96Q			Q9BRK4	LZTS2_HUMAN		Epithelial(162;7.3e-09)|all cancers(201;3.72e-07)	1	3350	+			96			Required for centrosomal localization (By similarity).			Missense_Mutation	SNP	ENST00000370220.1	37	c.287G>A	CCDS7507.1	.	.	.	.	.	.	.	.	.	.	G	16.79	3.220712	0.58560	.	.	ENSG00000107816	ENST00000426584;ENST00000370223;ENST00000429732;ENST00000315797;ENST00000370220;ENST00000454422	T;T	0.30981	1.51;1.51	4.78	3.85	0.44370	.	0.230280	0.37857	N	0.001909	T	0.21550	0.0519	L	0.43923	1.385	0.30882	N	0.731293	B	0.32071	0.355	B	0.18561	0.022	T	0.19877	-1.0292	10	0.56958	D	0.05	-29.372	7.9351	0.29925	0.088:0.1639:0.748:0.0	.	96	Q9BRK4	LZTS2_HUMAN	Q	96	ENSP00000359243:R96Q;ENSP00000359240:R96Q	ENSP00000314437:R96Q	R	+	2	0	LZTS2	102752572	0.976000	0.34144	1.000000	0.80357	0.990000	0.78478	2.118000	0.41949	1.085000	0.41206	0.561000	0.74099	CGG		0.627	LZTS2-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049872.1	XM_046743		13	47	0	0	0	1	0	13	47					A	102762582	G	A	102762582	3	1	175	1	0	0	0	0	1	0	0	0	9139	1116	39	2	289	2	LZTS2	10	102762582	Missense_Mutation	SNP	G	TCGA-G9-6379-01A-11D-A31L-08		102762582	32772165	12	8275											
OR4S2	219431	broad.mit.edu	37	chr11	55419263	55419263	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aaatgcagaagtaaagaatgCaatgaagaaactgtggggca	19	6	12	4	0	0	4	0	1	0	3	0	4	0	4	0	2	3	4	0	2	8	1			TCGA-G9-6379-01A-11D-A31L-08	TCGA-G9-6379-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	184256e3-08e8-423a-bb1e-fbcf52d671d7	68f54bda-df0c-4b1e-a81e-9d90763711ac	g.chr11:55419263C>A	ENST00000312422.2	+	1	884	c.884C>A	c.(883-885)gCa>gAa	p.A295E		NM_001004059.2	NP_001004059.2	Q8NH73	OR4S2_HUMAN	olfactory receptor, family 4, subfamily S, member 2	295						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(2)|large_intestine(4)|lung(28)|ovary(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_epithelial(135;0.0748)				GTAAAGAATGCAATGAAGAAA	0.363																																						ENST00000312422.2																			0				endometrium(1)|kidney(2)|large_intestine(4)|lung(28)|ovary(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						c.(883-885)gCa>gAa		olfactory receptor, family 4, subfamily S, member 2							134	128	130					11																	55419263		2179	4032	6211	SO:0001583	missense	219431				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55419263C>A	BK004390	CCDS31505.1	11q11	2012-08-09	2002-11-13	2002-11-15	ENSG00000174982	ENSG00000174982		"GPCR / Class A : Olfactory receptors"	15183	protein-coding gene	gene with protein product			"olfactory receptor, family 4, subfamily S, member 2 pseudogene"	OR4S2P			Standard	NM_001004059		Approved	OST725	uc001nhs.1	Q8NH73	OTTHUMG00000166799	ENST00000312422.2:c.884C>A	11.37:g.55419263C>A	ENSP00000310337:p.Ala295Glu						p.A295E	NM_001004059.2	NP_001004059.2	Q8NH73	OR4S2_HUMAN			1	884	+		all_epithelial(135;0.0748)	295					Q6IF72	Missense_Mutation	SNP	ENST00000312422.2	37	c.884C>A	CCDS31505.1	.	.	.	.	.	.	.	.	.	.	C	10.42	1.345738	0.24426	.	.	ENSG00000174982	ENST00000312422	T	0.44881	0.91	5.35	5.35	0.76521	.	0.117523	0.38005	N	0.001849	T	0.55449	0.1921	M	0.90082	3.085	0.23063	N	0.998351	P	0.43938	0.822	B	0.40477	0.33	T	0.63134	-0.6705	10	0.87932	D	0	.	17.6379	0.88128	0.0:1.0:0.0:0.0	.	295	Q8NH73	OR4S2_HUMAN	E	295	ENSP00000310337:A295E	ENSP00000310337:A295E	A	+	2	0	OR4S2	55175839	0.001000	0.12720	0.979000	0.43373	0.120000	0.20174	0.929000	0.28844	2.508000	0.84585	0.542000	0.68232	GCA		0.363	OR4S2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391503.1	NM_001004059		13	217	1	0	0.000151284	1	0.000159043	13	217					A	55419263	C	A	55419263	3	1	175	1	0	0	0	0	1	0	0	0	11083	710	25	5	886	5	OR4S2	11	55419263	Missense_Mutation	SNP	C	TCGA-G9-6379-01A-11D-A31L-08		55419263	79587253	13	8276											
MPEG1	219972	broad.mit.edu	37	chr11	58978841	58978841	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gagtctcagtggaaagtagcCggctgggcatgactgtgcat	9	9	15	8	1	1	1	1	1	1	0	2	3	1	2	1	3	2	4	1	3	2	1			TCGA-G9-6379-01A-11D-A31L-08	TCGA-G9-6379-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	184256e3-08e8-423a-bb1e-fbcf52d671d7	68f54bda-df0c-4b1e-a81e-9d90763711ac	g.chr11:58978841C>T	ENST00000361050.3	-	1	1583	c.1498G>A	c.(1498-1500)Ggc>Agc	p.G500S		NM_001039396.1	NP_001034485.1	Q2M385	MPEG1_HUMAN	macrophage expressed 1	500						integral component of membrane (GO:0016021)				NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(21)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		all_epithelial(135;0.125)				GGAAAGTAGCCGGCTGGGCAT	0.512																																						ENST00000361050.3																			0				NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(21)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						c.(1498-1500)Ggc>Agc		macrophage expressed 1							66	65	65					11																	58978841		1866	4106	5972	SO:0001583	missense	219972					integral to membrane		g.chr11:58978841C>T	AK097211	CCDS41650.1	11q12.1	2013-07-31				ENSG00000197629			29619	protein-coding gene	gene with protein product	"macrophage expressed gene 1"	610390				7888681, 23257510	Standard	NM_001039396		Approved	MPG1	uc001nnu.4	Q2M385		ENST00000361050.3:c.1498G>A	11.37:g.58978841C>T	ENSP00000354335:p.Gly500Ser						p.G500S	NM_001039396.1	NP_001034485.1	Q2M385	MPEG1_HUMAN			1	1583	-		all_epithelial(135;0.125)	500					Q2M1T6|Q8TEF8	Missense_Mutation	SNP	ENST00000361050.3	37	c.1498G>A	CCDS41650.1	.	.	.	.	.	.	.	.	.	.	C	0.011	-1.694428	0.00731	.	.	ENSG00000197629	ENST00000361050	T	0.21734	1.99	5.84	-1.84	0.07809	.	0.319686	0.34932	N	0.003565	T	0.07279	0.0184	N	0.10664	0.02	0.09310	N	0.999992	B	0.17268	0.021	B	0.09377	0.004	T	0.34775	-0.9815	10	0.16896	T	0.51	-9.3148	6.4613	0.21958	0.0:0.324:0.1349:0.541	.	500	Q2M385	MPEG1_HUMAN	S	500	ENSP00000354335:G500S	ENSP00000354335:G500S	G	-	1	0	MPEG1	58735417	0.000000	0.05858	0.041000	0.18516	0.015000	0.08874	-0.154000	0.10130	-0.116000	0.11893	-0.793000	0.03317	GGC		0.512	MPEG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370027.1	NM_001039396		9	89	0	0	0	1	0	9	89					T	58978841	C	T	58978841	3	4	175	1	0	0	0	0	1	0	0	0	9723	652	23	2	656	2	MPEG1	11	58978841	Missense_Mutation	SNP	C	TCGA-G9-6379-01A-11D-A31L-08	3559578	58978841	76027675	14	8277											
C11orf66	220004	broad.mit.edu	37	chr11	61249309	61249309	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaaactccccctgggggtcGtctccccttatgtgaagatg	7	10	12	12	1	1	2	0	1	1	1	4	3	2	3	4	3	1	0	4	3	3	1			TCGA-G9-6379-01A-11D-A31L-08	TCGA-G9-6379-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	184256e3-08e8-423a-bb1e-fbcf52d671d7	68f54bda-df0c-4b1e-a81e-9d90763711ac	g.chr11:61249309G>A	ENST00000338608.2	+	2	153	c.28G>A	c.(28-30)Gtc>Atc	p.V10I	RP11-286N22.8_ENST00000543044.1_3'UTR|RP11-286N22.8_ENST00000544880.1_Intron|PPP1R32_ENST00000432063.2_Missense_Mutation_p.V10I	NM_145017.2	NP_659454.2	Q7Z5V6	PPR32_HUMAN	protein phosphatase 1, regulatory subunit 32	10							phosphatase binding (GO:0019902)										CCTGGGGGTCGTCTCCCCTTA	0.632																																						ENST00000338608.2																			0											c.(28-30)Gtc>Atc		protein phosphatase 1, regulatory subunit 32							27	29	28					11																	61249309		2202	4299	6501	SO:0001583	missense	220004							g.chr11:61249309G>A	AK057333	CCDS8008.1, CCDS53641.1	11q12.2	2012-04-17	2011-10-11	2011-10-11	ENSG00000162148	ENSG00000162148		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	28869	protein-coding gene	gene with protein product			"chromosome 11 open reading frame 66"	C11orf66		12477932	Standard	NM_145017		Approved	IIIG9, FLJ32771	uc001nru.2	Q7Z5V6	OTTHUMG00000168176	ENST00000338608.2:c.28G>A	11.37:g.61249309G>A	ENSP00000344140:p.Val10Ile					RP11-286N22.8_ENST00000543044.1_3'UTR|PPP1R32_ENST00000432063.2_Missense_Mutation_p.V10I|RP11-286N22.8_ENST00000544880.1_Intron	p.V10I	NM_145017.2	NP_659454.2	Q7Z5V6	CK066_HUMAN			2	153	+			10					Q4G0P4|Q96M77	Missense_Mutation	SNP	ENST00000338608.2	37	c.28G>A	CCDS8008.1	.	.	.	.	.	.	.	.	.	.	G	14.80	2.642288	0.47153	.	.	ENSG00000256591;ENSG00000162148;ENSG00000162148	ENST00000541135;ENST00000432063;ENST00000338608	T;T;T	0.78816	-1.21;0.85;1.43	4.77	3.85	0.44370	.	0.264430	0.26528	N	0.023877	T	0.68265	0.2982	M	0.70595	2.14	0.80722	D	1	P;P	0.45902	0.868;0.868	B;B	0.27796	0.083;0.083	T	0.69573	-0.5109	10	0.48119	T	0.1	-9.4875	9.9773	0.41791	0.0969:0.0:0.9031:0.0	.	10;10	Q7Z5V6-2;Q7Z5V6	.;PPR32_HUMAN	I	162;10;10	ENSP00000443130:V162I;ENSP00000391560:V10I;ENSP00000344140:V10I	ENSP00000344140:V10I	V	+	1	0	C11orf66;RP11-286N22.8	61005885	0.970000	0.33590	0.976000	0.42696	0.987000	0.75469	3.668000	0.54554	1.014000	0.39417	0.407000	0.27541	GTC		0.632	PPP1R32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398621.1	NM_145017		3	29	0	0	0	1	0	3	29					A	61249309	G	A	61249309	3	1	175	1	0	0	0	0	1	0	0	0	1656	1145	40	1	30	1	C11orf66	11	61249309	Missense_Mutation	SNP	G	TCGA-G9-6379-01A-11D-A31L-08	2270468	61249309	73757207	15	8278											
VPS11	55823	broad.mit.edu	37	chr11	118949955	118949955	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggatgagctgcgggtgcggCggtaccgagaggagaccacc	9	4	18	10	4	0	3	0	1	0	2	0	6	0	4	3	5	4	2	3	5	1	1			TCGA-G9-6379-01A-11D-A31L-08	TCGA-G9-6379-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	184256e3-08e8-423a-bb1e-fbcf52d671d7	68f54bda-df0c-4b1e-a81e-9d90763711ac	g.chr11:118949955C>A	ENST00000300793.6	+	15	2422	c.2380C>A	c.(2380-2382)Cgg>Agg	p.R794R	VPS11_ENST00000527798.1_3'UTR	NM_021729.4	NP_068375.3	Q9H270	VPS11_HUMAN	vacuolar protein sorting 11 homolog (S. cerevisiae)	795					intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	endocytic vesicle (GO:0030139)|endosome (GO:0005768)|HOPS complex (GO:0030897)|lysosomal membrane (GO:0005765)	nucleotide binding (GO:0000166)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	29	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.88e-05)		GCGGGTGCGGCGGTACCGAGA	0.582																																						ENST00000300793.6																			0				autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	29						c.(2380-2382)Cgg>Agg		vacuolar protein sorting 11 homolog (S. cerevisiae)							26	28	28					11																	118949955		2051	4206	6257	SO:0001819	synonymous_variant	55823				protein transport	endocytic vesicle|HOPS complex|late endosome membrane|lysosomal membrane	nucleotide binding|protein binding|zinc ion binding	g.chr11:118949955C>A	AB027508	CCDS73404.1	11q23	2008-02-05	2006-12-19			ENSG00000160695		"RING-type (C3HC4) zinc fingers"	14583	protein-coding gene	gene with protein product		608549	"vacuolar protein sorting 11 (yeast homolog)"				Standard	NM_021729		Approved	RNF108, PEP5	uc010ryx.2	Q9H270		ENST00000300793.6:c.2380C>A	11.37:g.118949955C>A						VPS11_ENST00000527798.1_3'UTR	p.R794R	NM_021729.4	NP_068375.3	Q9H270	VPS11_HUMAN		BRCA - Breast invasive adenocarcinoma(274;7.88e-05)	15	2422	+	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)	795					Q8WY89|Q96EP8|Q9H6D9|Q9HCS6	Silent	SNP	ENST00000300793.6	37	c.2380C>A																																																																																					0.582	VPS11-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_021729		3	13	1	0	0.00024832	1	0.000254528	3	13					A	118949955	C	A	118949955	2	1	175	1	0	0	0	0	0	0	0	1	17185	759	27	5		5	VPS11	11	118949955	Silent	SNP	C	TCGA-G9-6379-01A-11D-A31L-08	57700646	118949955	16056561	16	8279											
DHH	50846	broad.mit.edu	37	chr12	49485161	49485161	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atggccaaagcgttcacccgCtccttacaacgctggcgggg	8	7	12	14	4	1	0	1	0	0	0	2	0	2	0	3	4	3	3	3	4	3	2			TCGA-G9-6379-01A-11D-A31L-08	TCGA-G9-6379-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	184256e3-08e8-423a-bb1e-fbcf52d671d7	68f54bda-df0c-4b1e-a81e-9d90763711ac	g.chr12:49485161C>T	ENST00000266991.2	-	2	621	c.315G>A	c.(313-315)gaG>gaA	p.E105E	RP11-386G11.8_ENST00000553174.1_RNA|RP11-386G11.8_ENST00000548030.1_RNA	NM_021044.2	NP_066382.1	O43323	DHH_HUMAN	desert hedgehog	105					cell-cell signaling (GO:0007267)|Leydig cell differentiation (GO:0033327)|male sex determination (GO:0030238)|myelination (GO:0042552)|regulation of steroid biosynthetic process (GO:0050810)|response to estradiol (GO:0032355)|spermatid development (GO:0007286)	extracellular region (GO:0005576)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|peptidase activity (GO:0008233)|zinc ion binding (GO:0008270)			breast(1)|large_intestine(3)|lung(4)	8						CGTTCACCCGCTCCTTACAAC	0.587																																						ENST00000266991.2																			0				breast(1)|large_intestine(3)|lung(4)	8						c.(313-315)gaG>gaA		desert hedgehog							69	55	60					12																	49485161		2203	4300	6503	SO:0001819	synonymous_variant	50846				cell-cell signaling|proteolysis	extracellular space|plasma membrane	calcium ion binding|peptidase activity|zinc ion binding	g.chr12:49485161C>T	AB010994	CCDS8779.1	12q13.1	2010-06-24	2010-06-24			ENSG00000139549			2865	protein-coding gene	gene with protein product		605423	"desert hedgehog (Drosophila) homolog"			10773676, 10640830	Standard	NM_021044		Approved	HHG-3, MGC35145	uc001rtf.3	O43323	OTTHUMG00000170408	ENST00000266991.2:c.315G>A	12.37:g.49485161C>T						RP11-386G11.8_ENST00000553174.1_RNA	p.E105E	NM_021044.2	NP_066382.1	O43323	DHH_HUMAN			2	621	-			105					Q15794	Silent	SNP	ENST00000266991.2	37	c.315G>A	CCDS8779.1																																																																																				0.587	DHH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408973.1	NM_021044		4	26	0	0	0	1	0	4	26					T	49485161	C	T	49485161	2	4	175	1	0	0	0	0	0	0	0	1	4483	796	28	3		3	DHH	12	49485161	Silent	SNP	C	TCGA-G9-6379-01A-11D-A31L-08		49485161	84366734	17	8280											
SP1	6667	broad.mit.edu	37	chr12	53777378	53777378	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	caggtgcacccaattcaaggCctgccgttggctatagcaaa	11	8	10	12	1	1	0	1	0	0	0	1	0	1	0	3	3	3	4	3	3	5	4			TCGA-G9-6379-01A-11D-A31L-08	TCGA-G9-6379-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	184256e3-08e8-423a-bb1e-fbcf52d671d7	68f54bda-df0c-4b1e-a81e-9d90763711ac	g.chr12:53777378C>G	ENST00000327443.4	+	3	1745	c.1647C>G	c.(1645-1647)ggC>ggG	p.G549G	SP1_ENST00000426431.2_Silent_p.G542G	NM_001251825.1|NM_138473.2	NP_001238754.1|NP_612482.2	P08047	SP1_HUMAN	Sp1 transcription factor	549	Transactivation domain C (highly charged).				cellular lipid metabolic process (GO:0044255)|definitive hemopoiesis (GO:0060216)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic placenta development (GO:0001892)|embryonic process involved in female pregnancy (GO:0060136)|embryonic skeletal system development (GO:0048706)|enucleate erythrocyte differentiation (GO:0043353)|gene expression (GO:0010467)|liver development (GO:0001889)|lung development (GO:0030324)|megakaryocyte differentiation (GO:0030219)|ossification (GO:0001503)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|rhythmic process (GO:0048511)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|trophectodermal cell differentiation (GO:0001829)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein-DNA complex (GO:0032993)	bHLH transcription factor binding (GO:0043425)|core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|enhancer binding (GO:0035326)|histone deacetylase binding (GO:0042826)|HMG box domain binding (GO:0071837)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II repressing transcription factor binding (GO:0001103)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|large_intestine(1)|ovary(1)|skin(1)|stomach(1)	5				BRCA - Breast invasive adenocarcinoma(357;0.00527)		CAATTCAAGGCCTGCCGTTGG	0.478																																						ENST00000426431.2																			0				breast(1)|large_intestine(1)|ovary(1)|skin(1)|stomach(1)	5						c.(1624-1626)ggC>ggG		Sp1 transcription factor							78	80	79					12																	53777378		2203	4300	6503	SO:0001819	synonymous_variant	0				positive regulation by host of viral transcription|positive regulation of transcription from RNA polymerase II promoter	cytoplasm	double-stranded DNA binding|histone deacetylase binding|HMG box domain binding|protein C-terminus binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding	g.chr12:53777378C>G	J03133	CCDS8857.1, CCDS44898.1	12q13.1	2013-01-08						"Specificity protein transcription factors", "Zinc fingers, C2H2-type"	11205	protein-coding gene	gene with protein product	"specificity protein 1"	189906				1662663	Standard	NM_003109		Approved		uc001scw.3	P08047	OTTHUMG00000170047	ENST00000327443.4:c.1647C>G	12.37:g.53777378C>G						SP1_ENST00000327443.4_Silent_p.G549G	p.G542G	NM_003109.1	NP_003100.1	P08047	SP1_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.00527)	3	1686	+			549			Transactivation domain C (highly charged).		E4Z9M7|G5E9M8|Q86TN8|Q9H3Q5|Q9NR51|Q9NY21|Q9NYE7	Silent	SNP	ENST00000327443.4	37	c.1626C>G	CCDS8857.1																																																																																				0.478	SP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407044.1			16	81	0	0	0	1	0	16	81					G	53777378	C	G	53777378	2	3	175	1	0	0	0	0	0	0	0	1	14959	726	26	5		5	SP1	12	53777378	Silent	SNP	C	TCGA-G9-6379-01A-11D-A31L-08	4292217	53777378	80074517	18	8281											
HOXC8	3224	broad.mit.edu	37	chr12	54403269	54403269	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caccacggcacctccggcatCtccaactcaggctaccagca	10	5	7	19	2	2	0	1	0	1	0	4	0	3	0	5	3	3	4	5	3	2	1			TCGA-G9-6379-01A-11D-A31L-08	TCGA-G9-6379-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	184256e3-08e8-423a-bb1e-fbcf52d671d7	68f54bda-df0c-4b1e-a81e-9d90763711ac	g.chr12:54403269C>A	ENST00000040584.4	+	1	438	c.201C>A	c.(199-201)atC>atA	p.I67I	RP11-834C11.12_ENST00000513209.1_Intron	NM_022658.3	NP_073149.1	P31273	HXC8_HUMAN	homeobox C8	67					anterior/posterior pattern specification (GO:0009952)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron differentiation (GO:0030182)|skeletal system morphogenesis (GO:0048705)|transcription, DNA-templated (GO:0006351)	microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|skin(3)	8						CCTCCGGCATCTCCAACTCAG	0.637																																					GBM(197;701 2226 7002 18822 41696)	ENST00000040584.4																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|skin(3)	8						c.(199-201)atC>atA		homeobox C8							123	135	131					12																	54403269		2203	4300	6503	SO:0001819	synonymous_variant	3224					nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr12:54403269C>A	X99680	CCDS8870.1	12q13.13	2011-06-20	2005-12-22			ENSG00000037965		"Homeoboxes / ANTP class : HOXL subclass"	5129	protein-coding gene	gene with protein product		142970	"homeo box C8"	HOX3, HOX3A		1973146, 1358459	Standard	NM_022658		Approved		uc001ser.3	P31273		ENST00000040584.4:c.201C>A	12.37:g.54403269C>A							p.I67I	NM_022658.3	NP_073149.1	P31273	HXC8_HUMAN			1	438	+			67					A8K4J4|O15221|O15362	Silent	SNP	ENST00000040584.4	37	c.201C>A	CCDS8870.1																																																																																				0.637	HOXC8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358957.2			15	260	1	0	2.23348e-06	1	2.40981e-06	15	260					A	54403269	C	A	54403269	2	1	175	1	0	0	0	0	0	0	0	1	7316	903	32	5		5	HOXC8	12	54403269	Silent	SNP	C	TCGA-G9-6379-01A-11D-A31L-08	625891	54403269	79448626	19	8282											
PIWIL1	9271	broad.mit.edu	37	chr12	130830316	130830316	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	aggactccagatatctgctgGatttcaggagttatcgttag	10	13	11	7	1	2	1	1	0	1	1	4	4	3	4	1	3	1	3	1	3	3	4			TCGA-G9-6379-01A-11D-A31L-08	TCGA-G9-6379-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	184256e3-08e8-423a-bb1e-fbcf52d671d7	68f54bda-df0c-4b1e-a81e-9d90763711ac	g.chr12:130830316G>A	ENST00000245255.3	+	4	481	c.209G>A	c.(208-210)gGa>gAa	p.G70E		NM_001190971.1|NM_004764.4	NP_001177900.1|NP_004755.2	Q96J94	PIWL1_HUMAN	piwi-like RNA-mediated gene silencing 1	70					gene silencing by RNA (GO:0031047)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|piRNA metabolic process (GO:0034587)|regulation of translation (GO:0006417)|spermatid development (GO:0007286)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|mRNA cap binding complex (GO:0005845)|P granule (GO:0043186)|polysome (GO:0005844)	mRNA binding (GO:0003729)|piRNA binding (GO:0034584)|single-stranded RNA binding (GO:0003727)			breast(6)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(26)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	57	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;3.02e-06)|Epithelial(86;3.85e-05)|all cancers(50;4.65e-05)		ATATCTGCTGGATTTCAGGAG	0.378																																						ENST00000245255.3																			0				breast(6)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(26)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	57						c.(208-210)gGa>gAa		piwi-like RNA-mediated gene silencing 1							159	157	158					12																	130830316		2203	4300	6503	SO:0001583	missense	9271				gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatid development	chromatoid body|P granule	mRNA binding|piRNA binding|protein binding	g.chr12:130830316G>A	AF104260	CCDS9268.1	12q24.33	2014-01-21	2013-02-15		ENSG00000125207	ENSG00000125207		"Argonaute/PIWI family"	9007	protein-coding gene	gene with protein product		605571	"piwi (Drosophila)-like 1", "piwi-like 1 (Drosophila)"			9851978, 12906857	Standard	NM_004764		Approved	PIWI, HIWI, CT80.1	uc001uik.3	Q96J94	OTTHUMG00000168382	ENST00000245255.3:c.209G>A	12.37:g.130830316G>A	ENSP00000245255:p.Gly70Glu						p.G70E	NM_001190971.1|NM_004764.4	NP_001177900.1|NP_004755.2	Q96J94	PIWL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.02e-06)|Epithelial(86;3.85e-05)|all cancers(50;4.65e-05)	4	481	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		70					A4F266|O95404|Q8NA60|Q8TBY5|Q96JD5	Missense_Mutation	SNP	ENST00000245255.3	37	c.209G>A	CCDS9268.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.070667	0.76301	.	.	ENSG00000125207	ENST00000245255;ENST00000546060;ENST00000539400;ENST00000539995;ENST00000535956;ENST00000542723	T;T;T;T;T;T	0.08807	3.05;3.05;3.05;3.05;3.05;3.05	5.98	5.98	0.97165	.	0.000000	0.85682	D	0.000000	T	0.30262	0.0759	M	0.70842	2.15	0.80722	D	1	D;D	0.89917	0.965;1.0	P;D	0.76071	0.796;0.987	T	0.00070	-1.2133	10	0.39692	T	0.17	-1.3733	19.4463	0.94849	0.0:0.0:1.0:0.0	.	70;70	Q96J94;Q96J94-2	PIWL1_HUMAN;.	E	70	ENSP00000245255:G70E;ENSP00000442086:G70E;ENSP00000440677:G70E;ENSP00000439096:G70E;ENSP00000444353:G70E;ENSP00000438582:G70E	ENSP00000245255:G70E	G	+	2	0	PIWIL1	129396269	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.346000	0.97056	2.835000	0.97688	0.650000	0.86243	GGA		0.378	PIWIL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399510.1			14	57	0	0	0	1	0	14	57					A	130830316	G	A	130830316	3	1	175	1	0	0	0	0	1	0	0	0	11957	1174	41	3	219	3	PIWIL1	12	130830316	Missense_Mutation	SNP	G	TCGA-G9-6379-01A-11D-A31L-08	76427047	130830316	3021579	20	8283											
CSNK1A1L	122011	broad.mit.edu	37	chr13	37678967	37678967	+	Frame_Shift_Del	DEL	G	G	-																															gtgacgcccagtacccatcaGgaagttatctggtttaatgt																										TCGA-G9-6379-01A-11D-A31L-08	TCGA-G9-6379-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	184256e3-08e8-423a-bb1e-fbcf52d671d7	68f54bda-df0c-4b1e-a81e-9d90763711ac	g.chr13:37678967delG	ENST00000379800.3	-	1	836	c.427delC	c.(427-429)ctgfs	p.L143fs		NM_145203.5	NP_660204.2	Q8N752	KC1AL_HUMAN	casein kinase 1, alpha 1-like	143	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell morphogenesis (GO:0000902)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	37		Lung NSC(96;7.97e-05)|Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.109)		all cancers(112;3.58e-07)|Epithelial(112;1.29e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00695)|BRCA - Breast invasive adenocarcinoma(63;0.0117)|GBM - Glioblastoma multiforme(144;0.0407)		GTACCCATCAGGAAGTTATCT	0.408																																						ENST00000379800.3																			0				NS(1)|breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	37						c.(427-429)tgfs		casein kinase 1, alpha 1-like							198	182	188					13																	37678967		2203	4300	6503	SO:0001589	frameshift_variant	122011				Wnt receptor signaling pathway	cytoplasm	ATP binding|protein serine/threonine kinase activity	g.chr13:37678967delG	BC028723	CCDS9363.1	13q13.2	2008-02-05			ENSG00000180138	ENSG00000180138			20289	protein-coding gene	gene with protein product							Standard	NM_145203		Approved	MGC33182	uc001uwm.1	Q8N752	OTTHUMG00000016748	ENST00000379800.3:c.427delC	13.37:g.37678967delG	ENSP00000369126:p.Leu143fs						p.L143fs	NM_145203.5	NP_660204.2	Q8N752	KC1AL_HUMAN		all cancers(112;3.58e-07)|Epithelial(112;1.29e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00695)|BRCA - Breast invasive adenocarcinoma(63;0.0117)|GBM - Glioblastoma multiforme(144;0.0407)	1	836	-		Lung NSC(96;7.97e-05)|Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.109)	143			Protein kinase.		Q5T2N2	Frame_Shift_Del	DEL	ENST00000379800.3	37	c.427delC	CCDS9363.1																																																																																				0.408	CSNK1A1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044563.1	NM_145203		9	120						9	120	---	---	---	---	-	37678967	G	-	37678967	7	5	175	1	0	1	0	1	0	0	0	0	3951	991	35	0	590	0	CSNK1A1L	13	37678967	Frame_Shift_Del	DEL	G	TCGA-G9-6379-01A-11D-A31L-08		37678967	77490911	21	8284											
C14orf106	55320	broad.mit.edu	37	chr14	45711597	45711601	+	Frame_Shift_Del	DEL	AGTGG	AGTGG	-																															aacgtgtcctttttggatttAgtggttgcaactatactctc																										TCGA-G9-6379-01A-11D-A31L-08	TCGA-G9-6379-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	184256e3-08e8-423a-bb1e-fbcf52d671d7	68f54bda-df0c-4b1e-a81e-9d90763711ac	g.chr14:45711597_45711601delAGTGG	ENST00000310806.4	-	4	1237_1241	c.779_783delCCACT	c.(778-783)accactfs	p.TT260fs	MIS18BP1_ENST00000492652.1_5'Flank	NM_018353.4	NP_060823.3	Q6P0N0	M18BP_HUMAN	MIS18 binding protein 1	260					CENP-A containing nucleosome assembly (GO:0034080)|mitotic nuclear division (GO:0007067)|nucleosome assembly (GO:0006334)	chromosome, centromeric region (GO:0000775)|nucleoplasm (GO:0005654)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	39						TTTTGGATTTAGTGGTTGCAACTAT	0.356																																						ENST00000310806.4																			0				NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	39						c.(778-783)afs		MIS18 binding protein 1																																				SO:0001589	frameshift_variant	55320				cell division|CenH3-containing nucleosome assembly at centromere|mitosis	chromosome, centromeric region|nucleoplasm	DNA binding	g.chr14:45711597_45711601delAGTGG	AB067490	CCDS9684.1	14q21.1	2011-06-03	2011-02-23	2011-02-23	ENSG00000129534	ENSG00000129534			20190	protein-coding gene	gene with protein product	"kinetochore null 2 homolog (C. elegans)"		"chromosome 14 open reading frame 106"	C14orf106		17339379, 17199038	Standard	NM_018353		Approved	M18BP1, FLJ11186, KIAA1903, KNL2	uc001wwf.3	Q6P0N0	OTTHUMG00000140266	ENST00000310806.4:c.779_783delCCACT	14.37:g.45711597_45711601delAGTGG	ENSP00000309790:p.Thr260fs						p.TT260fs	NM_018353.4	NP_060823.3	Q6P0N0	M18BP_HUMAN			4	1237_1241	-			260					D3DSA7|Q86V14|Q96PY4|Q9NUR5|Q9Y4X9	Frame_Shift_Del	DEL	ENST00000310806.4	37	c.779_783delCCACT	CCDS9684.1																																																																																				0.356	MIS18BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276795.2			11	89						11	89	---	---	---	---	-	45711601	AGTGG	-	45711597	7	5	175	1	0	1	0	1	0	0	0	0	1738	407	15	0	2671	0	C14orf106	14	45711597	Frame_Shift_Del	DEL	AGTGG	TCGA-G9-6379-01A-11D-A31L-08		45711597	61637943	22	8285											
KCNH5	27133	broad.mit.edu	37	chr14	63453881	63453881	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctatttgtcaaagcccgtGtcaatcgggcaaatttcgtc	9	12	10	10	3	2	0	2	0	0	0	5	0	2	0	1	2	1	2	1	2	4	3			TCGA-G9-6379-01A-11D-A31L-08	TCGA-G9-6379-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	184256e3-08e8-423a-bb1e-fbcf52d671d7	68f54bda-df0c-4b1e-a81e-9d90763711ac	g.chr14:63453881G>T	ENST00000322893.7	-	5	726	c.458C>A	c.(457-459)aCa>aAa	p.T153K	KCNH5_ENST00000394968.1_Missense_Mutation_p.T95K|KCNH5_ENST00000394964.2_Missense_Mutation_p.T95K|KCNH5_ENST00000420622.2_Missense_Mutation_p.T153K	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 5	153					potassium ion transmembrane transport (GO:0071805)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		CAAAGCCCGTGTCAATCGGGC	0.378																																						ENST00000322893.7																			0				NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99						c.(457-459)aCa>aAa		potassium voltage-gated channel, subfamily H (eag-related), member 5							109	102	104					14																	63453881		2203	4299	6502	SO:0001583	missense	27133				regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity	g.chr14:63453881G>T	U69185	CCDS9756.1, CCDS45122.1	14q23.1	2012-07-05			ENSG00000140015	ENSG00000140015		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6254	protein-coding gene	gene with protein product		605716				9738473, 16382104	Standard	NM_139318		Approved	Kv10.2, H-EAG2, eag2	uc001xfx.3	Q8NCM2	OTTHUMG00000029041	ENST00000322893.7:c.458C>A	14.37:g.63453881G>T	ENSP00000321427:p.Thr153Lys					KCNH5_ENST00000420622.2_Missense_Mutation_p.T153K|KCNH5_ENST00000394964.2_Missense_Mutation_p.T95K|KCNH5_ENST00000394968.1_Missense_Mutation_p.T95K	p.T153K	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)	5	726	-			153					C9JP98	Missense_Mutation	SNP	ENST00000322893.7	37	c.458C>A	CCDS9756.1	.	.	.	.	.	.	.	.	.	.	G	19.37	3.815412	0.70912	.	.	ENSG00000140015	ENST00000322893;ENST00000420622;ENST00000394968;ENST00000394964	D;D;D;D	0.98835	-5.17;-4.98;-4.97;-4.98	5.71	5.71	0.89125	.	0.048585	0.85682	D	0.000000	D	0.97374	0.9141	L	0.54323	1.7	0.80722	D	1	B;B;B;P	0.41420	0.417;0.409;0.257;0.749	B;B;B;B	0.43225	0.098;0.139;0.096;0.412	D	0.97294	0.9926	10	0.06365	T	0.9	.	19.85	0.96736	0.0:0.0:1.0:0.0	.	95;95;153;153	Q86XI1;Q8NCM2-3;Q8NCM2-2;Q8NCM2	.;.;.;KCNH5_HUMAN	K	153;153;95;95	ENSP00000321427:T153K;ENSP00000395439:T153K;ENSP00000378419:T95K;ENSP00000378415:T95K	ENSP00000321427:T153K	T	-	2	0	KCNH5	62523634	1.000000	0.71417	1.000000	0.80357	0.848000	0.48234	9.810000	0.99221	2.697000	0.92050	0.563000	0.77884	ACA		0.378	KCNH5-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411747.1	NM_139318		10	60	1	0	0.0692343	1	0.0692343	10	60					T	63453881	G	T	63453881	3	4	175	1	0	0	0	0	1	0	0	0	8035	1377	48	5	2570	5	KCNH5	14	63453881	Missense_Mutation	SNP	G	TCGA-G9-6379-01A-11D-A31L-08	17742284	63453881	43895659	23	8286											
STAT3	6774	broad.mit.edu	37	chr17	40475084	40475084	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctttgctgctttcactgaatCttagcaggaaggtgcctgga	8	13	11	9	0	2	1	1	1	1	0	2	3	2	3	1	3	4	3	1	3	3	3			TCGA-G9-6379-01A-11D-A31L-08	TCGA-G9-6379-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	184256e3-08e8-423a-bb1e-fbcf52d671d7	68f54bda-df0c-4b1e-a81e-9d90763711ac	g.chr17:40475084C>G	ENST00000264657.5	-	20	2138	c.1826G>C	c.(1825-1827)aGa>aCa	p.R609T	STAT3_ENST00000404395.3_Missense_Mutation_p.R609T|STAT3_ENST00000585517.1_Missense_Mutation_p.R609T|STAT3_ENST00000389272.3_Missense_Mutation_p.R511T|STAT3_ENST00000588969.1_Missense_Mutation_p.R609T	NM_003150.3|NM_139276.2	NP_003141.2|NP_644805.1	P40763	STAT3_HUMAN	signal transducer and activator of transcription 3 (acute-phase response factor)	609	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				acute-phase response (GO:0006953)|astrocyte differentiation (GO:0048708)|cell proliferation (GO:0008283)|cellular component movement (GO:0006928)|cellular response to hormone stimulus (GO:0032870)|cytokine-mediated signaling pathway (GO:0019221)|eating behavior (GO:0042755)|eye photoreceptor cell differentiation (GO:0001754)|glucose homeostasis (GO:0042593)|growth hormone receptor signaling pathway (GO:0060396)|interleukin-6-mediated signaling pathway (GO:0070102)|intracellular receptor signaling pathway (GO:0030522)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|negative regulation of cell death (GO:0060548)|negative regulation of cell proliferation (GO:0008285)|negative regulation of glycolytic process (GO:0045820)|negative regulation of neuron migration (GO:2001223)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphorylation (GO:0016310)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein import into nucleus (GO:0006606)|radial glial cell differentiation (GO:0060019)|regulation of multicellular organism growth (GO:0040014)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|sexual reproduction (GO:0019953)|signal transduction (GO:0007165)|stem cell maintenance (GO:0019827)|temperature homeostasis (GO:0001659)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein dimerization activity (GO:0046983)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|RNA polymerase II repressing transcription factor binding (GO:0001103)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		all_cancers(22;1.39e-06)|all_epithelial(22;2.95e-05)|Breast(137;0.000135)		BRCA - Breast invasive adenocarcinoma(366;0.139)		TTCACTGAATCTTAGCAGGAA	0.562									Hyperimmunoglobulin E Recurrent Infection Syndrome		OREG0024421	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000264657.5																			0				breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						c.(1825-1827)aGa>aCa		signal transducer and activator of transcription 3 (acute-phase response factor)							146	136	139					17																	40475084		2203	4300	6503	SO:0001583	missense	6774	Hyperimmunoglobulin E Recurrent Infection Syndrome	Familial Cancer Database	HIES, Hyper IgE syndrome, autosomal dominant (Job syndrome) / recessive	cellular component movement|eating behavior|eye photoreceptor cell differentiation|glucose homeostasis|interleukin-6-mediated signaling pathway|interspecies interaction between organisms|JAK-STAT cascade involved in growth hormone signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|protein import into nucleus|response to estradiol stimulus|sexual reproduction|temperature homeostasis	cytosol|nucleus|plasma membrane	calcium ion binding|ligand-regulated transcription factor activity|protein dimerization activity|protein kinase binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription factor binding|transcription regulatory region DNA binding	g.chr17:40475084C>G	BC014482	CCDS32656.1, CCDS32657.1, CCDS59288.1	17q21	2014-09-17			ENSG00000168610	ENSG00000168610		"SH2 domain containing"	11364	protein-coding gene	gene with protein product		102582				7512451	Standard	NM_139276		Approved	APRF	uc002hzl.1	P40763	OTTHUMG00000150645	ENST00000264657.5:c.1826G>C	17.37:g.40475084C>G	ENSP00000264657:p.Arg609Thr		OREG0024421	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	893	STAT3_ENST00000585517.1_Missense_Mutation_p.R609T|STAT3_ENST00000404395.3_Missense_Mutation_p.R609T|STAT3_ENST00000389272.3_Missense_Mutation_p.R511T|STAT3_ENST00000588969.1_Missense_Mutation_p.R609T	p.R609T	NM_003150.3|NM_139276.2	NP_003141.2|NP_644805.1	P40763	STAT3_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.139)	20	2138	-		all_cancers(22;1.39e-06)|all_epithelial(22;2.95e-05)|Breast(137;0.000135)	609			SH2.		A8K7B8|K7ENL3|O14916|Q9BW54	Missense_Mutation	SNP	ENST00000264657.5	37	c.1826G>C	CCDS32656.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.216863	0.79352	.	.	ENSG00000168610	ENST00000264657;ENST00000389272;ENST00000404395	D;D;D	0.99287	-5.69;-5.69;-5.69	5.22	5.22	0.72569	SH2 motif (4);	0.000000	0.85682	D	0.000000	D	0.98874	0.9619	M	0.80422	2.495	0.80722	D	1	B;B;B	0.30193	0.23;0.272;0.272	B;B;B	0.36719	0.148;0.231;0.231	D	0.99719	1.1009	10	0.87932	D	0	-41.6973	18.9715	0.92716	0.0:1.0:0.0:0.0	.	609;609;609	P40763-2;P40763;B5BTZ6	.;STAT3_HUMAN;.	T	609;511;609	ENSP00000264657:R609T;ENSP00000373923:R511T;ENSP00000384943:R609T	ENSP00000264657:R609T	R	-	2	0	STAT3	37728610	1.000000	0.71417	0.200000	0.23457	0.929000	0.56500	7.544000	0.82117	2.717000	0.92951	0.609000	0.83330	AGA		0.562	STAT3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319353.3	NM_139276, NM_003150		23	124	0	0	0	1	0	23	124					G	40475084	C	G	40475084	3	3	175	1	0	0	0	0	1	0	0	0	15265	913	32	5	506	5	STAT3	17	40475084	Missense_Mutation	SNP	C	TCGA-G9-6379-01A-11D-A31L-08		40475084	40720126	24	8287											
SCN4A	6329	broad.mit.edu	37	chr17	62018760	62018760	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gaactgggtggcgtcggggtCgaacttctcccatgtctcgt	5	11	14	11	4	2	0	0	0	2	0	6	2	2	0	1	4	2	0	1	4	2	1			TCGA-G9-6379-01A-11D-A31L-08	TCGA-G9-6379-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	184256e3-08e8-423a-bb1e-fbcf52d671d7	68f54bda-df0c-4b1e-a81e-9d90763711ac	g.chr17:62018760C>T	ENST00000435607.1	-	24	4958	c.4882G>A	c.(4882-4884)Gac>Aac	p.D1628N	SCN4A_ENST00000578147.1_Missense_Mutation_p.D1628N	NM_000334.4	NP_000325.4	P35499	SCN4A_HUMAN	sodium channel, voltage-gated, type IV, alpha subunit	1628					membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Diclofenac(DB00586)|Flecainide(DB01195)|Propofol(DB00818)|Valproic Acid(DB00313)|Zonisamide(DB00909)	GCGTCGGGGTCGAACTTCTCC	0.562																																						ENST00000578147.1																			0				breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101						c.(4882-4884)Gac>Aac		sodium channel, voltage-gated, type IV, alpha subunit	Lamotrigine(DB00555)						55	63	60					17																	62018760		2151	4263	6414	SO:0001583	missense	6329				muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr17:62018760C>T	U24693		17q23.3	2012-02-26	2007-01-23					"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10591	protein-coding gene	gene with protein product		603967		HYKPP		1654742, 1659948, 16382098	Standard	XM_005257566		Approved	Nav1.4, HYPP, SkM1	uc002jds.1	P35499		ENST00000435607.1:c.4882G>A	17.37:g.62018760C>T	ENSP00000396320:p.Asp1628Asn					SCN4A_ENST00000435607.1_Missense_Mutation_p.D1628N	p.D1628N			P35499	SCN4A_HUMAN			24	4958	-			1628					Q15478|Q16447|Q7Z6B1	Missense_Mutation	SNP	ENST00000435607.1	37	c.4882G>A	CCDS45761.1	.	.	.	.	.	.	.	.	.	.	C	22.2	4.258713	0.80246	.	.	ENSG00000007314	ENST00000435607	D	0.98958	-5.27	3.66	3.66	0.41972	.	0.000000	0.85682	D	0.000000	D	0.99124	0.9698	M	0.93720	3.45	0.80722	D	1	D	0.54397	0.966	P	0.57846	0.828	D	0.99038	1.0823	10	0.87932	D	0	.	14.9158	0.70795	0.0:1.0:0.0:0.0	.	1628	P35499	SCN4A_HUMAN	N	1628	ENSP00000396320:D1628N	ENSP00000396320:D1628N	D	-	1	0	SCN4A	59372492	1.000000	0.71417	0.990000	0.47175	0.755000	0.42902	7.609000	0.82925	2.062000	0.61559	0.561000	0.74099	GAC		0.562	SCN4A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_000334		10	61	0	0	0	1	0	10	61					T	62018760	C	T	62018760	3	4	175	1	0	0	0	0	1	0	0	0	13920	884	31	2	632	2	SCN4A	17	62018760	Missense_Mutation	SNP	C	TCGA-G9-6379-01A-11D-A31L-08	21543676	62018760	19176450	25	8288											
SLC14A2	8170	broad.mit.edu	37	chr18	43205697	43205697	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cattgtgaagatcgaaaagcTcaatgaaaggagtaaaagga	19	7	11	4	1	1	3	1	2	0	1	2	6	1	5	0	2	1	2	0	2	7	2			TCGA-G9-6379-01A-11D-A31L-08	TCGA-G9-6379-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	184256e3-08e8-423a-bb1e-fbcf52d671d7	68f54bda-df0c-4b1e-a81e-9d90763711ac	g.chr18:43205697T>A	ENST00000255226.6	+	3	1016	c.200T>A	c.(199-201)cTc>cAc	p.L67H	SLC14A2_ENST00000586448.1_Missense_Mutation_p.L67H	NM_007163.3	NP_009094.3	Q15849	UT2_HUMAN	solute carrier family 14 (urea transporter), member 2	67					transmembrane transport (GO:0055085)|urea transport (GO:0015840)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|urea transmembrane transporter activity (GO:0015204)			NS(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(35)|ovary(1)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						ATCGAAAAGCTCAATGAAAGG	0.502																																						ENST00000255226.6																			0				NS(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(35)|ovary(1)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						c.(199-201)cTc>cAc		solute carrier family 14 (urea transporter), member 2							67	62	64					18																	43205697		2203	4300	6503	SO:0001583	missense	8170					apical plasma membrane|integral to membrane|membrane fraction	protein binding|urea transmembrane transporter activity	g.chr18:43205697T>A	X96969	CCDS11924.1	18q12.1-q21.1	2013-05-22			ENSG00000132874	ENSG00000132874		"Solute carriers"	10919	protein-coding gene	gene with protein product		601611				8647271	Standard	NM_007163		Approved	HUT2, UT2	uc010dnj.3	Q15849	OTTHUMG00000132616	ENST00000255226.6:c.200T>A	18.37:g.43205697T>A	ENSP00000255226:p.Leu67His					SLC14A2_ENST00000586448.1_Missense_Mutation_p.L67H	p.L67H	NM_007163.3	NP_009094.3	Q15849	UT2_HUMAN			3	1016	+			67					A8K8Q7|Q2TBD6|Q96PH5	Missense_Mutation	SNP	ENST00000255226.6	37	c.200T>A	CCDS11924.1	.	.	.	.	.	.	.	.	.	.	T	8.575	0.880883	0.17467	.	.	ENSG00000132874	ENST00000255226;ENST00000323329	T;T	0.52754	1.36;0.65	5.98	3.24	0.37175	.	0.448399	0.25686	N	0.028970	T	0.26955	0.0660	N	0.08118	0	0.09310	N	1	P;B	0.36027	0.533;0.371	B;B	0.36885	0.235;0.176	T	0.10683	-1.0619	10	0.45353	T	0.12	-7.4558	9.4518	0.38731	0.0:0.7747:0.0:0.2253	.	67;67	Q15849;E7EPU1	UT2_HUMAN;.	H	67	ENSP00000255226:L67H;ENSP00000320689:L67H	ENSP00000255226:L67H	L	+	2	0	SLC14A2	41459695	0.189000	0.23263	0.011000	0.14972	0.094000	0.18550	0.438000	0.21559	0.425000	0.26087	-0.137000	0.14449	CTC		0.502	SLC14A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255858.1			4	15	0	0	0	1	0	4	15					A	43205697	T	A	43205697	3	1	175	1	0	0	0	0	1	0	0	0	14397	1551	54	5	206	5	SLC14A2	18	43205697	Missense_Mutation	SNP	T	TCGA-G9-6379-01A-11D-A31L-08		43205697	34871551	26	8289											
SERPINB5	5268	broad.mit.edu	37	chr18	61160285	61160285	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tggcaagtggatgaagaaatTttctgaatcagaaacaaaag	18	9	10	4	0	2	4	1	2	1	2	2	5	2	5	0	2	1	1	0	2	7	2			TCGA-G9-6379-01A-11D-A31L-08	TCGA-G9-6379-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	184256e3-08e8-423a-bb1e-fbcf52d671d7	68f54bda-df0c-4b1e-a81e-9d90763711ac	g.chr18:61160285T>C	ENST00000382771.4	+	5	816	c.524T>C	c.(523-525)tTt>tCt	p.F175S	SERPINB5_ENST00000464346.1_3'UTR|SERPINB5_ENST00000489441.1_Missense_Mutation_p.F175S	NM_002639.4	NP_002630.2	P36952	SPB5_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 5	175					cellular component movement (GO:0006928)|extracellular matrix organization (GO:0030198)|morphogenesis of an epithelium (GO:0002009)|negative regulation of endopeptidase activity (GO:0010951)|prostate gland morphogenesis (GO:0060512)|regulation of epithelial cell proliferation (GO:0050678)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase inhibitor activity (GO:0004867)			kidney(3)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)	12						ATGAAGAAATTTTCTGAATCA	0.403																																						ENST00000382771.4																			0				kidney(3)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)	12						c.(523-525)tTt>tCt		serpin peptidase inhibitor, clade B (ovalbumin), member 5							119	113	115					18																	61160285		2203	4300	6503	SO:0001583	missense	5268				cellular component movement|regulation of proteolysis	cytoplasm|extracellular space	protein binding|serine-type endopeptidase inhibitor activity	g.chr18:61160285T>C	U04313	CCDS32839.1	18q21.33	2014-02-18	2005-08-18		ENSG00000206075	ENSG00000206075		"Serine (or cysteine) peptidase inhibitors"	8949	protein-coding gene	gene with protein product	"protease inhibitor 5 (maspin)"	154790	"serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 5"	PI5		8290962, 7724531, 16720730, 24172014	Standard	NM_002639		Approved	maspin	uc002liz.4	P36952	OTTHUMG00000141307	ENST00000382771.4:c.524T>C	18.37:g.61160285T>C	ENSP00000372221:p.Phe175Ser					SERPINB5_ENST00000464346.1_3'UTR|SERPINB5_ENST00000489441.1_Missense_Mutation_p.F175S	p.F175S	NM_002639.4	NP_002630.2	P36952	SPB5_HUMAN			5	816	+			175					B2R6Y4|Q6N0B4|Q8WW89	Missense_Mutation	SNP	ENST00000382771.4	37	c.524T>C	CCDS32839.1	.	.	.	.	.	.	.	.	.	.	T	26.8	4.774682	0.90108	.	.	ENSG00000206075	ENST00000382771	T	0.53640	0.61	6.05	6.05	0.98169	Serpin domain (3);	0.000000	0.85682	D	0.000000	T	0.79257	0.4415	H	0.96048	3.76	0.58432	D	0.999997	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.85809	0.1378	10	0.72032	D	0.01	.	16.2615	0.82549	0.0:0.0:0.0:1.0	.	175;175	P36952;P36952-2	SPB5_HUMAN;.	S	175	ENSP00000372221:F175S	ENSP00000372221:F175S	F	+	2	0	SERPINB5	59311265	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.077000	0.71275	2.323000	0.78572	0.533000	0.62120	TTT		0.403	SERPINB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280629.1	NM_002639		29	99	0	0	0	1	0	29	99					C	61160285	T	C	61160285	3	2	175	1	0	0	0	0	1	0	0	0	14104	1841	64	4	538	4	SERPINB5	18	61160285	Missense_Mutation	SNP	T	TCGA-G9-6379-01A-11D-A31L-08	17954588	61160285	16916963	27	8290											
GTF2F1	2962	broad.mit.edu	37	chr19	6387480	6387480	+	Silent	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaattgtaccagttgtgcacGgggaaggcctcgaaggcccc	10	7	13	11	2	0	0	0	0	0	0	1	2	0	1	4	4	2	3	4	4	4	3			TCGA-G9-6379-01A-11D-A31L-08	TCGA-G9-6379-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	184256e3-08e8-423a-bb1e-fbcf52d671d7	68f54bda-df0c-4b1e-a81e-9d90763711ac	g.chr19:6387480G>C	ENST00000394456.5	-	5	881	c.417C>G	c.(415-417)ccC>ccG	p.P139P	CTB-180A7.6_ENST00000599584.1_RNA|GTF2F1_ENST00000429701.2_Intron	NM_002096.2	NP_002087.2	P35269	T2FA_HUMAN	general transcription factor IIF, polypeptide 1, 74kDa	139					7-methylguanosine mRNA capping (GO:0006370)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|positive regulation of catalytic activity (GO:0043085)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of viral transcription (GO:0050434)|response to virus (GO:0009615)|RNA splicing (GO:0008380)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	cell junction (GO:0030054)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIIF complex (GO:0005674)	catalytic activity (GO:0003824)|DNA binding (GO:0003677)|phosphatase activator activity (GO:0019211)|poly(A) RNA binding (GO:0044822)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(4)	16						AGTTGTGCACGGGGAAGGCCT	0.627																																						ENST00000394456.5																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(4)	16						c.(415-417)ccC>ccG		general transcription factor IIF, polypeptide 1, 74kDa							163	143	149					19																	6387480		2203	4300	6503	SO:0001819	synonymous_variant	2962				mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of transcription, DNA-dependent|positive regulation of viral transcription|response to virus|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cell junction|transcription factor TFIIF complex	catalytic activity|DNA binding|phosphatase activator activity|transcription coactivator activity|transcription factor binding	g.chr19:6387480G>C		CCDS12165.1	19p13.3	2010-03-23	2002-08-29		ENSG00000125651	ENSG00000125651		"General transcription factors"	4652	protein-coding gene	gene with protein product		189968	"general transcription factor IIF, polypeptide 1 (74kD subunit)"			1734284	Standard	NM_002096		Approved	TFIIF, BTF4, RAP74, TF2F1	uc002meq.2	P35269	OTTHUMG00000168087	ENST00000394456.5:c.417C>G	19.37:g.6387480G>C						CTB-180A7.6_ENST00000599584.1_RNA|GTF2F1_ENST00000429701.2_Intron	p.P139P	NM_002096.2	NP_002087.2	P35269	T2FA_HUMAN			5	881	-			139					B2RCS0|Q9BWN0	Silent	SNP	ENST00000394456.5	37	c.417C>G	CCDS12165.1																																																																																				0.627	GTF2F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398033.1	NM_002096		11	80	0	0	0	1	0	11	80					C	6387480	G	C	6387480	2	2	175	1	0	0	0	0	0	0	0	1	6858	1103	39	5		5	GTF2F1	19	6387480	Silent	SNP	G	TCGA-G9-6379-01A-11D-A31L-08		6387480	52741503	28	8291											
RYR1	6261	broad.mit.edu	37	chr19	38959779	38959779	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgggagattgagattggggaCggtgagggctgagacccctt	8	8	18	7	2	0	4	0	3	0	3	0	8	0	5	2	5	0	1	2	5	0	3	rs377282283		TCGA-G9-6379-01A-11D-A31L-08	TCGA-G9-6379-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	184256e3-08e8-423a-bb1e-fbcf52d671d7	68f54bda-df0c-4b1e-a81e-9d90763711ac	g.chr19:38959779C>T	ENST00000359596.3	+	26	3555	c.3555C>T	c.(3553-3555)gaC>gaT	p.D1185D	RYR1_ENST00000355481.4_Splice_Site_p.D1185D|RYR1_ENST00000360985.3_Splice_Site_p.D1185D			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	1185	6 X approximate repeats.|B30.2/SPRY 2. {ECO:0000255|PROSITE- ProRule:PRU00548}.				calcium ion transport (GO:0006816)|cellular response to caffeine (GO:0071313)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|ossification involved in bone maturation (GO:0043931)|outflow tract morphogenesis (GO:0003151)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|skeletal muscle fiber development (GO:0048741)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|integral component of plasma membrane (GO:0005887)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|voltage-gated calcium channel activity (GO:0005245)			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	AGATTGGGGACGGTGAGGGCT	0.557													C|||	1	0.000199681	8e-04	0	5008	,	,		20640	0		0	False		,,,				2504	0					ENST00000355481.4																			0				NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285						c.e26+1		ryanodine receptor 1 (skeletal)	Dantrolene(DB01219)	C	,	2,4404	4.2+/-10.8	0,2,2201	95	82	86		3555,3555	-2.5	1	19		86	0,8600		0,0,4300	no	coding-synonymous-near-splice,coding-synonymous-near-splice	RYR1	NM_000540.2,NM_001042723.1	,	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	,	1185/5039,1185/5034	38959779	2,13004	2203	4300	6503	SO:0001630	splice_region_variant	6261				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr19:38959779C>T	J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"Ion channels / Ryanodine receptors"	10483	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 137"	180901	"central core disease of muscle"	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.3556+1C>T	19.37:g.38959779C>T						RYR1_ENST00000360985.3_Splice_Site_p.D1185_splice|RYR1_ENST00000359596.3_Splice_Site_p.D1185_splice	p.D1185_splice	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		26	3686	+	all_cancers(60;7.91e-06)		1185			6 X approximate repeats.|B30.2/SPRY 2.		Q16314|Q16368|Q9NPK1|Q9P1U4	Splice_Site	SNP	ENST00000359596.3	37	c.3556_splice	CCDS33011.1																																																																																				0.557	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1		Silent	5	57	0	0	0	1	0	5	57					T	38959779	C	T	38959779	5	4	175	1	0	0	0	0	0	0	1	0	13768	550	19	1	3657	1	RYR1	19	38959779	Splice_Site	SNP	C	TCGA-G9-6379-01A-11D-A31L-08	32572299	38959779	20169204	29	8292											
BCAM	4059	broad.mit.edu	37	chr19	45317538	45317538	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccggagtatacgcttttccGccttcaggtgacccacccaa	8	9	8	16	3	1	1	1	1	0	0	2	2	2	2	5	2	1	2	5	2	3	5	rs202122474		TCGA-G9-6379-01A-11D-A31L-08	TCGA-G9-6379-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	184256e3-08e8-423a-bb1e-fbcf52d671d7	68f54bda-df0c-4b1e-a81e-9d90763711ac	g.chr19:45317538G>A	ENST00000270233.6	+	7	936	c.914G>A	c.(913-915)cGc>cAc	p.R305H	BCAM_ENST00000589651.1_Missense_Mutation_p.R305H	NM_001013257.2|NM_005581.4	NP_001013275.1|NP_005572.2	P50895	BCAM_HUMAN	basal cell adhesion molecule (Lutheran blood group)	305	Ig-like C2-type 1.				cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	laminin binding (GO:0043236)|laminin receptor activity (GO:0005055)|transmembrane signaling receptor activity (GO:0004888)			central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	22	Lung NSC(12;0.000789)|all_lung(12;0.00218)	Ovarian(192;0.0728)|all_neural(266;0.112)				ACGCTTTTCCGCCTTCAGGTG	0.652																																						ENST00000391955.1																			0				central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	22						c.(913-915)cGc>cAc		basal cell adhesion molecule (Lutheran blood group)																																				SO:0001583	missense	4059				cell-matrix adhesion	integral to plasma membrane	laminin binding|laminin receptor activity	g.chr19:45317538G>A	X83425	CCDS12644.1, CCDS42575.1	19q12-q13	2014-07-18	2006-02-23	2006-01-12		ENSG00000187244		"CD molecules", "Blood group antigens", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6722	protein-coding gene	gene with protein product		612773	"Lutheran blood group (Auberger b antigen included)", "basal cell adhesion molecule (Lu and Au blood groups)"	LU			Standard	NM_005581		Approved	CD239	uc002ozu.4	P50895		ENST00000270233.6:c.914G>A	19.37:g.45317538G>A	ENSP00000270233:p.Arg305His					BCAM_ENST00000270233.6_Missense_Mutation_p.R305H	p.R305H			P50895	BCAM_HUMAN			7	958	+	Lung NSC(12;0.000789)|all_lung(12;0.00218)	Ovarian(192;0.0728)|all_neural(266;0.112)	305			Ig-like C2-type 1.		A8MYF9|A9YWT5|A9YWT6|Q86VC7	Missense_Mutation	SNP	ENST00000270233.6	37	c.914G>A	CCDS12644.1	.	.	.	.	.	.	.	.	.	.	.	12.17	1.858121	0.32791	.	.	ENSG00000187244	ENST00000270233;ENST00000391955	T;T	0.13420	2.59;2.59	3.98	0.6	0.17524	Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.17492	0.0420	M	0.82056	2.57	0.19575	N	0.999963	B	0.21753	0.06	B	0.20384	0.029	T	0.24083	-1.0170	9	0.66056	D	0.02	-10.7596	6.2388	0.20778	0.3487:0.0:0.6513:0.0	.	305	P50895	BCAM_HUMAN	H	305	ENSP00000270233:R305H;ENSP00000375817:R305H	ENSP00000270233:R305H	R	+	2	0	BCAM	50009378	0.094000	0.21725	0.039000	0.18376	0.856000	0.48823	0.332000	0.19751	0.089000	0.17243	0.462000	0.41574	CGC		0.652	BCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453220.1	NM_005581		7	87	0	0	0	1	0	7	87					A	45317538	G	A	45317538	3	1	175	1	0	0	0	0	1	0	0	0	1344	1087	38	1	940	1	BCAM	19	45317538	Missense_Mutation	SNP	G	TCGA-G9-6379-01A-11D-A31L-08	6357759	45317538	13811445	30	8293											
TSPY2	64591	broad.mit.edu	37	chrY	6114373	6114373	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcggcagggttcctgtggcGtgggtcgggcagcacaggcc	4	7	19	11	3	0	0	0	0	0	0	2	0	1	0	2	6	2	4	2	6	0	1			TCGA-G9-6379-01A-11D-A31L-08	TCGA-G9-6379-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	184256e3-08e8-423a-bb1e-fbcf52d671d7	68f54bda-df0c-4b1e-a81e-9d90763711ac	g.chrY:6114373G>A	ENST00000320701.4	+	1	110	c.64G>A	c.(64-66)Gtg>Atg	p.V22M	TSPY2_ENST00000383042.1_Missense_Mutation_p.V22M|TTTY23B_ENST00000451467.1_lincRNA	NM_022573.2	NP_072095.2	A6NKD2	TSPY2_HUMAN	testis specific protein, Y-linked 2	22					cell differentiation (GO:0030154)|gonadal mesoderm development (GO:0007506)|nucleosome assembly (GO:0006334)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.V22L(1)		liver(1)|lung(4)|prostate(1)|skin(1)	7						TTCCTGTGGCGTGGGTCGGGC	0.711																																						ENST00000320701.4																			1	Substitution - Missense(1)	p.V22L(1)	liver(1)	liver(1)|lung(4)|prostate(1)|skin(1)	7						c.(64-66)Gtg>Atg		testis specific protein, Y-linked 2							5	5	5					Y																	6114373		317	937	1254	SO:0001583	missense	64591				cell differentiation|gonadal mesoderm development|nucleosome assembly|spermatogenesis	cytoplasm|nucleus		g.chrY:6114373G>A	AF106331	CCDS35465.1	Yp11.2	2010-05-12			ENSG00000168757	ENSG00000168757			23924	protein-coding gene	gene with protein product						10773691	Standard	NM_022573		Approved	TSPYQ1	uc004fqr.1	A6NKD2	OTTHUMG00000040957	ENST00000320701.4:c.64G>A	Y.37:g.6114373G>A	ENSP00000314077:p.Val22Met					TSPY2_ENST00000383042.1_Missense_Mutation_p.V22M	p.V22M	NM_022573.2	NP_072095.2	A6NKD2	TSPY2_HUMAN			1	110	+			22						Missense_Mutation	SNP	ENST00000320701.4	37	c.64G>A	CCDS35465.1	.	.	.	.	.	.	.	.	.	.	.	7.829	0.719343	0.15372	.	.	ENSG00000168757	ENST00000383042	T	0.39229	1.09	.	.	.	.	.	.	.	.	T	0.06645	0.0170	N	0.08118	0	0.19945	N	0.999942	D;D	0.64830	0.994;0.987	B;B	0.38616	0.277;0.277	T	0.15694	-1.0428	5	.	.	.	.	.	.	.	.	22;22	A6NGT6;A6NKD2	.;TSPY2_HUMAN	M	22	ENSP00000372512:V22M	.	V	+	1	0	TSPY2	6174373	0.010000	0.17322	0.061000	0.19648	0.061000	0.15899	1.084000	0.30828	0.064000	0.16427	0.064000	0.15345	GTG		0.711	TSPY2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000098313.1	NM_022573		11	20	0	0	0	1	0	11	20					A	6114373	G	A	6114373	3	1	175	1	0	0	0	0	1	0	0	0	16655	1145	40	1	66	1	TSPY2	24	6114373	Missense_Mutation	SNP	G	TCGA-G9-6379-01A-11D-A31L-08		6114373	53259193	31	8294											
LRRC47	57470	broad.mit.edu	37	chr1	3697704	3697704	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tggccaggtcggccttggacGggtacaccaccttcaggctc	6	8	13	14	2	1	0	1	0	0	0	3	1	1	1	4	6	1	2	4	6	1	3			TCGA-G9-6384-01A-11D-1786-08	TCGA-G9-6384-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	667ba573-9cd4-4916-8b54-d529c24cd63e	4b005f8d-1af2-4aff-87b6-de830251409b	g.chr1:3697704G>C	ENST00000378251.1	-	7	1727	c.1700C>G	c.(1699-1701)cCg>cGg	p.P567R	RN7SL574P_ENST00000581512.1_RNA	NM_020710.2	NP_065761.1	Q8N1G4	LRC47_HUMAN	leucine rich repeat containing 47	567							phenylalanine-tRNA ligase activity (GO:0004826)|poly(A) RNA binding (GO:0044822)	p.P567R(1)		central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|urinary_tract(1)	17	all_cancers(77;0.0375)|Ovarian(185;0.0634)|all_lung(157;0.208)|Lung NSC(156;0.21)	all_epithelial(116;1.34e-16)|all_lung(118;2.53e-06)|Lung NSC(185;0.00028)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Lung SC(97;0.0743)|Ovarian(437;0.127)		Epithelial(90;5.49e-39)|OV - Ovarian serous cystadenocarcinoma(86;1.43e-22)|GBM - Glioblastoma multiforme(42;3.69e-16)|Colorectal(212;1.21e-05)|COAD - Colon adenocarcinoma(227;5.87e-05)|Kidney(185;0.000367)|BRCA - Breast invasive adenocarcinoma(365;0.000704)|KIRC - Kidney renal clear cell carcinoma(229;0.00567)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.124)		GGCCTTGGACGGGTACACCAC	0.652																																						ENST00000378251.1																			1	Substitution - Missense(1)	p.P567R(1)	prostate(1)	central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|urinary_tract(1)	17						c.(1699-1701)cCg>cGg		leucine rich repeat containing 47							65	71	69					1																	3697704		2203	4300	6503	SO:0001583	missense	57470				translation		phenylalanine-tRNA ligase activity|RNA binding	g.chr1:3697704G>C	AB033011	CCDS51.1	1p36.32	2008-02-05			ENSG00000130764	ENSG00000130764			29207	protein-coding gene	gene with protein product						10574461	Standard	NM_020710		Approved	KIAA1185, RP1-286D6.3	uc001akx.1	Q8N1G4	OTTHUMG00000003506	ENST00000378251.1:c.1700C>G	1.37:g.3697704G>C	ENSP00000367498:p.Pro567Arg						p.P567R	NM_020710.2	NP_065761.1	Q8N1G4	LRC47_HUMAN		Epithelial(90;5.49e-39)|OV - Ovarian serous cystadenocarcinoma(86;1.43e-22)|GBM - Glioblastoma multiforme(42;3.69e-16)|Colorectal(212;1.21e-05)|COAD - Colon adenocarcinoma(227;5.87e-05)|Kidney(185;0.000367)|BRCA - Breast invasive adenocarcinoma(365;0.000704)|KIRC - Kidney renal clear cell carcinoma(229;0.00567)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.124)	7	1727	-	all_cancers(77;0.0375)|Ovarian(185;0.0634)|all_lung(157;0.208)|Lung NSC(156;0.21)	all_epithelial(116;1.34e-16)|all_lung(118;2.53e-06)|Lung NSC(185;0.00028)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Lung SC(97;0.0743)|Ovarian(437;0.127)	567					Q9ULN5	Missense_Mutation	SNP	ENST00000378251.1	37	c.1700C>G	CCDS51.1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.463835	0.84425	.	.	ENSG00000130764	ENST00000378251	T	0.71817	-0.6	5.14	5.14	0.70334	.	0.000000	0.85682	D	0.000000	D	0.83188	0.5200	M	0.66439	2.03	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.85166	0.0995	10	0.87932	D	0	-32.6402	17.5952	0.88010	0.0:0.0:1.0:0.0	.	567	Q8N1G4	LRC47_HUMAN	R	567	ENSP00000367498:P567R	ENSP00000367498:P567R	P	-	2	0	LRRC47	3687564	1.000000	0.71417	0.948000	0.38648	0.828000	0.46876	9.047000	0.93823	2.396000	0.81511	0.655000	0.94253	CCG		0.652	LRRC47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009744.1	NM_020710		17	69	0	0	0	0.539581	0	17	69					C	3697704	G	C	3697704	3	2	176	1	0	0	0	0	1	0	0	0	9004	1116	39	5	55	5	LRRC47	1	3697704	Missense_Mutation	SNP	G	TCGA-G9-6384-01A-11D-1786-08		3697704	245552917	1	8295											
SPAG17	200162	broad.mit.edu	37	chr1	118554950	118554950	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atccactatccgagtaccatCtttcctttcaactatgacaa	12	13	3	13	1	2	1	1	1	1	0	5	2	5	1	4	0	2	1	4	0	5	5			TCGA-G9-6384-01A-11D-1786-08	TCGA-G9-6384-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	667ba573-9cd4-4916-8b54-d529c24cd63e	4b005f8d-1af2-4aff-87b6-de830251409b	g.chr1:118554950C>G	ENST00000336338.5	-	30	4398	c.4333G>C	c.(4333-4335)Gat>Cat	p.D1445H		NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	1445						cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)|sperm flagellum (GO:0036126)		p.D1445H(1)		NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		CGAGTACCATCTTTCCTTTCA	0.393																																						ENST00000336338.5																			1	Substitution - Missense(1)	p.D1445H(1)	prostate(1)	NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123						c.(4333-4335)Gat>Cat		sperm associated antigen 17							193	163	174					1																	118554950		2203	4300	6503	SO:0001583	missense	200162					cilium|flagellar axoneme|microtubule		g.chr1:118554950C>G		CCDS899.1	1p12	2014-01-21			ENSG00000155761	ENSG00000155761			26620	protein-coding gene	gene with protein product							Standard	NM_206996		Approved	FLJ34497, PF6, RP4-776P7.2, CT143	uc001ehk.2	Q6Q759	OTTHUMG00000012198	ENST00000336338.5:c.4333G>C	1.37:g.118554950C>G	ENSP00000337804:p.Asp1445His						p.D1445H	NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN		Lung(183;0.0858)	30	4398	-	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)	1445					Q8NAZ1|Q9NT21	Missense_Mutation	SNP	ENST00000336338.5	37	c.4333G>C	CCDS899.1	.	.	.	.	.	.	.	.	.	.	C	15.42	2.829523	0.50845	.	.	ENSG00000155761	ENST00000336338	T	0.34667	1.35	4.72	4.72	0.59763	.	0.143197	0.64402	D	0.000010	T	0.53012	0.1770	M	0.71581	2.175	0.43719	D	0.996198	D	0.89917	1.0	D	0.91635	0.999	T	0.57705	-0.7765	10	0.72032	D	0.01	.	16.6166	0.84917	0.0:1.0:0.0:0.0	.	1445	Q6Q759	SPG17_HUMAN	H	1445	ENSP00000337804:D1445H	ENSP00000337804:D1445H	D	-	1	0	SPAG17	118356473	0.999000	0.42202	0.998000	0.56505	0.338000	0.28826	5.205000	0.65186	2.460000	0.83146	0.557000	0.71058	GAT		0.393	SPAG17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033723.1	NM_206996		14	50	0	0	0	0.457914	0	14	50					G	118554950	C	G	118554950	3	3	176	1	0	0	0	0	1	0	0	0	14979	913	32	5	2414	5	SPAG17	1	118554950	Missense_Mutation	SNP	C	TCGA-G9-6384-01A-11D-1786-08	114857246	118554950	130695671	2	8296											
CD1B	910	broad.mit.edu	37	chr1	158299693	158299693	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaggacgcccaagagatatcGggggcaggtttcatagagga	12	6	16	7	2	1	2	1	0	0	2	2	6	1	4	1	5	0	2	1	5	3	3	rs370440810		TCGA-G9-6384-01A-11D-1786-08	TCGA-G9-6384-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	667ba573-9cd4-4916-8b54-d529c24cd63e	4b005f8d-1af2-4aff-87b6-de830251409b	g.chr1:158299693G>A	ENST00000368168.3	-	3	663	c.556C>T	c.(556-558)Cga>Tga	p.R186*		NM_001764.2	NP_001755.1	P29016	CD1B_HUMAN	CD1b molecule	186	Ig-like.				antigen processing and presentation (GO:0019882)|immune response (GO:0006955)	cell surface (GO:0009986)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|plasma membrane (GO:0005886)		p.R186*(1)		breast(2)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	30	all_hematologic(112;0.0378)					AAGAGATATCGGGGGCAGGTT	0.463																																						ENST00000368168.3																			1	Substitution - Nonsense(1)	p.R186*(1)	prostate(1)	breast(2)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	30						c.(556-558)Cga>Tga		CD1b molecule		G	stop/ARG	1,4405	2.1+/-5.4	0,1,2202	134	124	127		556	-0.1	0	1		127	0,8600		0,0,4300	no	stop-gained	CD1B	NM_001764.2		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		186/334	158299693	1,13005	2203	4300	6503	SO:0001587	stop_gained	910				antigen processing and presentation|immune response	endosome membrane|integral to membrane|lysosomal membrane|plasma membrane	protein binding	g.chr1:158299693G>A	M28826	CCDS1176.1	1q23.1	2014-01-14	2006-03-28		ENSG00000158485	ENSG00000158485		"CD molecules", "Immunoglobulin superfamily / C1-set domain containing"	1635	protein-coding gene	gene with protein product		188360	"CD1B antigen, b polypeptide", "CD1b antigen"	CD1		2447586	Standard	NM_001764		Approved		uc001frx.3	P29016	OTTHUMG00000017513	ENST00000368168.3:c.556C>T	1.37:g.158299693G>A	ENSP00000357150:p.Arg186*						p.R186*	NM_001764.2	NP_001755.1	P29016	CD1B_HUMAN			3	663	-	all_hematologic(112;0.0378)		186			Ig-like.		Q5TDK9|Q5TDL0|Q9UMM2	Nonsense_Mutation	SNP	ENST00000368168.3	37	c.556C>T	CCDS1176.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.01|19.01	3.742912|3.742912	0.69418|0.69418	2.27E-4|2.27E-4	0.0|0.0	ENSG00000158485|ENSG00000158485	ENST00000451207|ENST00000368168	T|.	0.07908|.	3.15|.	4.46|4.46	-0.0677|-0.0677	0.13759|0.13759	.|.	.|1.314320	.|0.05589	.|N	.|0.574413	T|.	0.03651|.	0.0104|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.27536|.	-1.0071|.	5|.	0.34782|0.02654	T|T	0.22|1	-0.0048|-0.0048	7.2959|7.2959	0.26393|0.26393	0.0:0.1582:0.3556:0.4862|0.0:0.1582:0.3556:0.4862	.|.	.|.	.|.	.|.	L|X	153|186	ENSP00000395161:P153L|.	ENSP00000395161:P153L|ENSP00000357150:R186X	P|R	-|-	2|1	0|2	CD1B|CD1B	156566317|156566317	0.000000|0.000000	0.05858|0.05858	0.001000|0.001000	0.08648|0.08648	0.077000|0.077000	0.17291|0.17291	-0.204000|-0.204000	0.09425|0.09425	-0.083000|-0.083000	0.12618|0.12618	0.655000|0.655000	0.94253|0.94253	CCG|CGA		0.463	CD1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046350.2	NM_001764		25	135	0	0	0	0.654019	0	25	135					A	158299693	G	A	158299693	4	1	176	1	0	0	0	0	0	1	0	0	2975	1124	39	2	461	2	CD1B	1	158299693	Nonsense_Mutation	SNP	G	TCGA-G9-6384-01A-11D-1786-08	39744743	158299693	90950928	3	8297											
PRRX1	5396	broad.mit.edu	37	chr1	170688957	170688957	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagctgcaggctttggagcGtgtctttgagcggacacact	7	10	13	11	2	1	1	0	1	1	0	1	3	1	3	1	3	4	3	1	3	0	2			TCGA-G9-6384-01A-11D-1786-08	TCGA-G9-6384-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	667ba573-9cd4-4916-8b54-d529c24cd63e	4b005f8d-1af2-4aff-87b6-de830251409b	g.chr1:170688957G>A	ENST00000239461.6	+	2	645	c.332G>A	c.(331-333)cGt>cAt	p.R111H	PRRX1_ENST00000367760.3_Missense_Mutation_p.R111H|PRRX1_ENST00000497230.2_Missense_Mutation_p.R111H	NM_022716.2	NP_073207.1	P54821	PRRX1_HUMAN	paired related homeobox 1	111					artery morphogenesis (GO:0048844)|cartilage development (GO:0051216)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic limb morphogenesis (GO:0030326)|inner ear morphogenesis (GO:0042472)|middle ear morphogenesis (GO:0042474)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|palate development (GO:0060021)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of smoothened signaling pathway (GO:0045880)	nucleolus (GO:0005730)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)	p.R111H(1)		large_intestine(2)|ovary(1)	3	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					GCTTTGGAGCGTGTCTTTGAG	0.512																																						ENST00000239461.6																			1	Substitution - Missense(1)	p.R111H(1)	prostate(1)	large_intestine(2)|ovary(1)	3						c.(331-333)cGt>cAt		paired related homeobox 1							114	101	105					1																	170688957		2203	4300	6503	SO:0001583	missense	5396					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chr1:170688957G>A	M95929	CCDS1290.1, CCDS1291.1	1q24.3	2011-06-20	2003-11-12	2003-11-14	ENSG00000116132	ENSG00000116132		"Homeoboxes / PRD class"	9142	protein-coding gene	gene with protein product		167420	"paired mesoderm homeo box 1"	PMX1		1509260	Standard	NM_006902		Approved	PHOX1	uc001ghf.3	P54821	OTTHUMG00000035231	ENST00000239461.6:c.332G>A	1.37:g.170688957G>A	ENSP00000239461:p.Arg111His					PRRX1_ENST00000497230.2_Missense_Mutation_p.R111H|PRRX1_ENST00000367760.3_Missense_Mutation_p.R111H	p.R111H	NM_022716.2	NP_073207.1	P54821	PRRX1_HUMAN			2	645	+	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)		111					B5BUM7|O60807	Missense_Mutation	SNP	ENST00000239461.6	37	c.332G>A	CCDS1290.1	.	.	.	.	.	.	.	.	.	.	G	31	5.091206	0.94149	.	.	ENSG00000116132	ENST00000553786;ENST00000367760;ENST00000239461;ENST00000497230	D;D;D;D	0.96459	-4.02;-4.02;-4.02;-4.02	5.32	5.32	0.75619	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	D	0.97517	0.9187	M	0.79123	2.44	0.80722	D	1	D;D	0.76494	0.998;0.999	P;P	0.61275	0.886;0.872	D	0.98143	1.0437	10	0.87932	D	0	.	17.5667	0.87922	0.0:0.0:1.0:0.0	.	111;111	P54821;P54821-2	PRRX1_HUMAN;.	H	64;111;111;111	ENSP00000451943:R64H;ENSP00000356734:R111H;ENSP00000239461:R111H;ENSP00000450762:R111H	ENSP00000239461:R111H	R	+	2	0	PRRX1	168955581	1.000000	0.71417	0.997000	0.53966	0.953000	0.61014	4.923000	0.63412	2.463000	0.83235	0.655000	0.94253	CGT		0.512	PRRX1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085236.3	NM_006902		20	61	0	0	0	0.592651	0	20	61					A	170688957	G	A	170688957	3	1	176	1	0	0	0	0	1	0	0	0	12612	1145	40	1	338	1	PRRX1	1	170688957	Missense_Mutation	SNP	G	TCGA-G9-6384-01A-11D-1786-08	12389264	170688957	78561664	4	8298											
TRIB2	28951	broad.mit.edu	37	chr2	12863619	12863619	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagtggcccactgccatgaCggggggctggtgctgcggga	5	6	19	11	2	0	1	0	1	0	0	0	2	0	2	2	6	3	3	2	6	0	0	rs542940298		TCGA-G9-6384-01A-11D-1786-08	TCGA-G9-6384-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	667ba573-9cd4-4916-8b54-d529c24cd63e	4b005f8d-1af2-4aff-87b6-de830251409b	g.chr2:12863619C>T	ENST00000405331.3	+	2	574	c.504C>T	c.(502-504)gaC>gaT	p.D168D	TRIB2_ENST00000155926.4_Silent_p.D168D|TRIB2_ENST00000381465.2_Silent_p.D32D					tribbles pseudokinase 2									p.D168D(1)		breast(1)|cervix(1)|endometrium(1)|large_intestine(8)|lung(5)|prostate(1)|skin(1)|stomach(1)	19	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					ACTGCCATGACGGGGGGCTGG	0.577													C|||	1	0.000199681	8e-04	0	5008	,	,		18087	0		0	False		,,,				2504	0					ENST00000155926.4																			1	Substitution - coding silent(1)	p.D168D(1)	prostate(1)	breast(1)|cervix(1)|endometrium(1)|large_intestine(8)|lung(5)|prostate(1)|skin(1)|stomach(1)	19						c.(502-504)gaC>gaT		tribbles pseudokinase 2							54	57	56					2																	12863619		2203	4300	6503	SO:0001819	synonymous_variant	28951				negative regulation of fat cell differentiation|negative regulation of interleukin-10 biosynthetic process|negative regulation of protein kinase activity|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|regulation of MAP kinase activity	cytoplasm|cytoskeleton|nucleus	ATP binding|protein kinase activity|protein kinase inhibitor activity|transcription factor binding|ubiquitin protein ligase binding|ubiquitin-protein ligase regulator activity	g.chr2:12863619C>T	AY245544	CCDS1683.1	2p25.1	2013-10-03	2013-10-03		ENSG00000071575	ENSG00000071575			30809	protein-coding gene	gene with protein product		609462	"tribbles homolog 2 (Drosophila)"			12736262, 17097562, 16715410	Standard	NM_021643		Approved	TRB2, GS3955	uc002rbv.4	Q92519	OTTHUMG00000090575	ENST00000405331.3:c.504C>T	2.37:g.12863619C>T						TRIB2_ENST00000405331.3_Silent_p.D168D|TRIB2_ENST00000381465.2_Silent_p.D32D	p.D168D	NM_021643.3	NP_067675.1	Q92519	TRIB2_HUMAN			2	1923	+	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		168			Protein kinase.			Silent	SNP	ENST00000405331.3	37	c.504C>T																																																																																					0.577	TRIB2-004	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000323585.1	NM_021643		15	76	0	0	0	0.479597	0	15	76					T	12863619	C	T	12863619	2	4	176	1	0	0	0	0	0	0	0	1	16480	535	19	1		1	TRIB2	2	12863619	Silent	SNP	C	TCGA-G9-6384-01A-11D-1786-08		12863619	230335754	5	8299											
FAM123C	205147	broad.mit.edu	37	chr2	131520858	131520858	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	acaagaaggaagctgagagcCcaggcactcctgccgccacc	12	3	11	15	1	0	2	0	1	0	2	1	4	1	3	5	2	3	2	5	2	3	0			TCGA-G9-6384-01A-11D-1786-08	TCGA-G9-6384-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	667ba573-9cd4-4916-8b54-d529c24cd63e	4b005f8d-1af2-4aff-87b6-de830251409b	g.chr2:131520858C>T	ENST00000423981.1	+	2	1323	c.1213C>T	c.(1213-1215)Cca>Tca	p.P405S	AMER3_ENST00000321420.4_Missense_Mutation_p.P405S	NM_001105193.1|NM_001105194.1|NM_001105195.1|NM_152698.2	NP_001098663.1|NP_001098664.1|NP_001098665.1|NP_689911.2	Q8N944	AMER3_HUMAN	APC membrane recruitment protein 3	405					Wnt signaling pathway (GO:0016055)	plasma membrane (GO:0005886)	lipid binding (GO:0008289)	p.P405S(1)									AGCTGAGAGCCCAGGCACTCC	0.632																																						ENST00000423981.1																			1	Substitution - Missense(1)	p.P405S(1)	prostate(1)								c.(1213-1215)Cca>Tca		APC membrane recruitment protein 3							68	56	60					2																	131520858		2203	4300	6503	SO:0001583	missense	205147							g.chr2:131520858C>T	AK095696	CCDS2164.1	2q21.1	2012-12-03	2012-12-03	2012-12-03	ENSG00000178171	ENSG00000178171		"-"	26771	protein-coding gene	gene with protein product			"family with sequence similarity 123C"	FAM123C		20843316	Standard	NM_001105195		Approved	FLJ38377	uc002trw.2	Q8N944	OTTHUMG00000131637	ENST00000423981.1:c.1213C>T	2.37:g.131520858C>T	ENSP00000392700:p.Pro405Ser					AMER3_ENST00000321420.4_Missense_Mutation_p.P405S	p.P405S	NM_001105193.1|NM_001105194.1|NM_001105195.1|NM_152698.2	NP_001098663.1|NP_001098664.1|NP_001098665.1|NP_689911.2					2	1323	+								B7ZLH6	Missense_Mutation	SNP	ENST00000423981.1	37	c.1213C>T	CCDS2164.1	.	.	.	.	.	.	.	.	.	.	C	13.30	2.194546	0.38806	.	.	ENSG00000178171	ENST00000321420;ENST00000423981	T;T	0.16324	2.35;2.35	5.2	5.2	0.72013	.	0.084067	0.48286	D	0.000187	T	0.30262	0.0759	L	0.32530	0.975	0.33194	D	0.551269	D	0.89917	1.0	D	0.83275	0.996	T	0.18745	-1.0327	10	0.37606	T	0.19	.	14.6087	0.68501	0.0:1.0:0.0:0.0	.	405	Q8N944	F123C_HUMAN	S	405	ENSP00000314914:P405S;ENSP00000392700:P405S	ENSP00000314914:P405S	P	+	1	0	FAM123C	131237328	0.276000	0.24211	0.968000	0.41197	0.026000	0.11368	0.688000	0.25422	2.602000	0.87976	0.561000	0.74099	CCA		0.632	AMER3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254531.3	NM_152698		18	55	0	0	0	0.557998	0	18	55					T	131520858	C	T	131520858	3	4	176	1	0	0	0	0	1	0	0	0	5424	623	22	3	1215	3	FAM123C	2	131520858	Missense_Mutation	SNP	C	TCGA-G9-6384-01A-11D-1786-08	118657239	131520858	111678515	6	8300											
CADM2	253559	broad.mit.edu	37	chr3	86114827	86114827	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aatagtggctgtagttgtatTtgtcacgctgtgttctatct	7	18	10	6	1	3	0	1	0	2	0	3	0	3	0	0	1	0	6	0	1	5	7			TCGA-G9-6384-01A-11D-1786-08	TCGA-G9-6384-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	667ba573-9cd4-4916-8b54-d529c24cd63e	4b005f8d-1af2-4aff-87b6-de830251409b	g.chr3:86114827T>G	ENST00000407528.2	+	9	1198	c.1136T>G	c.(1135-1137)tTt>tGt	p.F379C	CADM2_ENST00000383699.3_Missense_Mutation_p.F348C|CADM2_ENST00000405615.2_Missense_Mutation_p.F381C	NM_001167674.1	NP_001161146.1	Q8N3J6	CADM2_HUMAN	cell adhesion molecule 2	379					adherens junction organization (GO:0034332)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|neuronal cell body membrane (GO:0032809)|plasma membrane (GO:0005886)|synapse (GO:0045202)		p.F381C(2)|p.F348C(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(1)|prostate(1)|skin(4)	38		Lung NSC(201;0.0148)		LUSC - Lung squamous cell carcinoma(29;0.000815)|Lung(72;0.00304)|BRCA - Breast invasive adenocarcinoma(55;0.156)|Epithelial(33;0.157)		GTAGTTGTATTTGTCACGCTG	0.423																																						ENST00000383699.3																			3	Substitution - Missense(3)	p.F381C(2)|p.F348C(1)	prostate(3)	endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(1)|prostate(1)|skin(4)	38						c.(1042-1044)tTt>tGt		cell adhesion molecule 2							190	163	172					3																	86114827		2203	4300	6503	SO:0001583	missense	253559				adherens junction organization|cell junction assembly	integral to membrane|plasma membrane		g.chr3:86114827T>G	AF538973	CCDS33792.1, CCDS54613.1, CCDS54614.1	3p12.2	2013-01-11	2007-02-07	2007-02-07	ENSG00000175161	ENSG00000175161		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / C2-set domain containing"	29849	protein-coding gene	gene with protein product	"nectin-like 3"	609938	"immunoglobulin superfamily, member 4D"	IGSF4D			Standard	NM_153184		Approved	NECL3, Necl-3, SynCAM2	uc003dqj.3	Q8N3J6	OTTHUMG00000158990	ENST00000407528.2:c.1136T>G	3.37:g.86114827T>G	ENSP00000384575:p.Phe379Cys					CADM2_ENST00000407528.2_Missense_Mutation_p.F379C|CADM2_ENST00000405615.2_Missense_Mutation_p.F381C	p.F348C	NM_001167675.1|NM_001256504.1|NM_001256505.1	NP_001161147.1|NP_001243433.1|NP_001243434.1	Q8N3J6	CADM2_HUMAN		LUSC - Lung squamous cell carcinoma(29;0.000815)|Lung(72;0.00304)|BRCA - Breast invasive adenocarcinoma(55;0.156)|Epithelial(33;0.157)	9	1670	+		Lung NSC(201;0.0148)	379			Thr-rich.		G3XHN7|G3XHN8|Q3KQY9|Q658Q7|Q8IZP8	Missense_Mutation	SNP	ENST00000407528.2	37	c.1043T>G	CCDS54614.1	.	.	.	.	.	.	.	.	.	.	T	25.3	4.623224	0.87460	.	.	ENSG00000175161	ENST00000383699;ENST00000407528;ENST00000405615	T;T;T	0.72835	-0.48;-0.68;-0.69	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	D	0.83064	0.5173	M	0.76328	2.33	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.997;0.996	T	0.81328	-0.0982	10	0.27785	T	0.31	.	16.0708	0.80928	0.0:0.0:0.0:1.0	.	381;348;379	Q8N3J6-3;G3XHN4;Q8N3J6	.;.;CADM2_HUMAN	C	348;379;381	ENSP00000373200:F348C;ENSP00000384575:F379C;ENSP00000384193:F381C	ENSP00000373200:F348C	F	+	2	0	CADM2	86197517	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.040000	0.89188	2.197000	0.70478	0.528000	0.53228	TTT		0.423	CADM2-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352822.1	NM_153184		4	48	0	0	0	0.150653	0	4	48					G	86114827	T	G	86114827	3	3	176	1	0	0	0	0	1	0	0	0	2567	1841	64	5	1241	5	CADM2	3	86114827	Missense_Mutation	SNP	T	TCGA-G9-6384-01A-11D-1786-08		86114827	111907603	7	8301											
SDHA	6389	broad.mit.edu	37	chr5	228381	228381	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atggggagtgccgtggtgtcAtcgcactgtgcatagaggac	8	9	16	8	2	1	1	1	0	0	1	2	3	1	3	1	4	2	2	1	4	1	1			TCGA-G9-6384-01A-11D-1786-08	TCGA-G9-6384-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	667ba573-9cd4-4916-8b54-d529c24cd63e	19e9336f-2e5d-497a-a5ed-4490e8d27f2b	g.chr5:228381A>T	ENST00000264932.6	+	6	818	c.703A>T	c.(703-705)Atc>Ttc	p.I235F	SDHA_ENST00000504309.1_Missense_Mutation_p.I235F|SDHA_ENST00000510361.1_Missense_Mutation_p.I187F	NM_004168.2	NP_004159.2	P31040	SDHA_HUMAN	succinate dehydrogenase complex, subunit A, flavoprotein (Fp)	235					cellular metabolic process (GO:0044237)|nervous system development (GO:0007399)|oxidation-reduction process (GO:0055114)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)|succinate metabolic process (GO:0006105)|tricarboxylic acid cycle (GO:0006099)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex II (GO:0005749)|mitochondrion (GO:0005739)	flavin adenine dinucleotide binding (GO:0050660)|succinate dehydrogenase (ubiquinone) activity (GO:0008177)			NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|liver(2)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	40			Epithelial(17;0.0159)|all cancers(22;0.0236)|OV - Ovarian serous cystadenocarcinoma(19;0.0674)|Lung(60;0.113)		Succinic acid(DB00139)	CCGTGGTGTCATCGCACTGTG	0.428									Familial Paragangliomas																													ENST00000264932.6																			0				NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|liver(2)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	40						c.(703-705)Atc>Ttc		succinate dehydrogenase complex, subunit A, flavoprotein (Fp)	Succinic acid(DB00139)						99	91	94					5																	228381		2203	4300	6503	SO:0001583	missense	6389	Familial Paragangliomas	Familial Cancer Database	Hereditary Glomus Tumors, Familial Paragangliomas, Hereditary Paragangliomas, type 1-3: PGL1, PGL2, PGL3, incl. Familial Carotid Body Paraganglioma and Sensorineural Hearing Loss	nervous system development|respiratory electron transport chain|succinate metabolic process|transport|tricarboxylic acid cycle	mitochondrial respiratory chain complex II	electron carrier activity|flavin adenine dinucleotide binding|protein binding|succinate dehydrogenase (ubiquinone) activity	g.chr5:228381A>T	BC001380	CCDS3853.1	5p15	2014-09-17			ENSG00000073578	ENSG00000073578		"Mitochondrial respiratory chain complex / Complex II"	10680	protein-coding gene	gene with protein product		600857		SDH2		7798181	Standard	XM_005248329		Approved	FP, SDHF	uc003jao.4	P31040	OTTHUMG00000090275	ENST00000264932.6:c.703A>T	5.37:g.228381A>T	ENSP00000264932:p.Ile235Phe					SDHA_ENST00000504309.1_Missense_Mutation_p.I235F|SDHA_ENST00000510361.1_Missense_Mutation_p.I187F	p.I235F	NM_004168.2	NP_004159.2	P31040	DHSA_HUMAN	Epithelial(17;0.0159)|all cancers(22;0.0236)|OV - Ovarian serous cystadenocarcinoma(19;0.0674)|Lung(60;0.113)		6	818	+			235					A8K5J6|B4DJ60|E9PBJ5|Q16395|Q59GW8|Q8IW48|Q9UMY5	Missense_Mutation	SNP	ENST00000264932.6	37	c.703A>T	CCDS3853.1	.	.	.	.	.	.	.	.	.	.	a	19.19	3.779259	0.70107	.	.	ENSG00000073578	ENST00000264932;ENST00000504309;ENST00000510361	T;T;T	0.70869	-0.52;-0.52;-0.52	5.23	5.23	0.72850	Fumarate reductase/succinate dehydrogenase flavoprotein, N-terminal (1);	0.136916	0.47455	U	0.000240	D	0.82774	0.5110	M	0.81942	2.565	0.80722	D	1	D;D;D;D;D	0.69078	0.98;0.993;0.997;0.997;0.997	P;D;P;D;D	0.63703	0.883;0.917;0.88;0.917;0.917	D	0.85499	0.1190	10	0.87932	D	0	.	13.4155	0.60966	1.0:0.0:0.0:0.0	.	187;235;235;235;241	E9PBJ5;B4DYN5;D6RFM5;P31040;Q59GW8	.;.;.;DHSA_HUMAN;.	F	235;235;187	ENSP00000264932:I235F;ENSP00000426514:I235F;ENSP00000427703:I187F	ENSP00000264932:I235F	I	+	1	0	SDHA	281381	1.000000	0.71417	0.042000	0.18584	0.341000	0.28922	8.895000	0.92512	2.127000	0.65507	0.524000	0.50904	ATC		0.428	SDHA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206599.1	NM_004168		5	53	0	0	0	0.184627	0	5	53					T	228381	A	T	228381	3	4	176	1	0	0	0	0	1	0	0	0	13963	217	8	5	725	5	SDHA	5	228381	Missense_Mutation	SNP	A	TCGA-G9-6384-01A-11D-1786-08		228381	180686879	8	8302											
FAM174A	345757	broad.mit.edu	37	chr5	99871330	99871330	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ctaagcgggcccctggcagtCctgctgcaggcagccgaggc	6	5	15	15	2	0	0	0	0	0	0	1	1	1	0	4	4	4	4	4	4	1	1			TCGA-G9-6384-01A-11D-1786-08	TCGA-G9-6384-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	667ba573-9cd4-4916-8b54-d529c24cd63e	4b005f8d-1af2-4aff-87b6-de830251409b	g.chr5:99871330C>T	ENST00000312637.4	+	1	322	c.96C>T	c.(94-96)gtC>gtT	p.V32V	CTD-2001C12.1_ENST00000499025.1_lincRNA	NM_198507.1	NP_940909.1	Q8TBP5	F174A_HUMAN	family with sequence similarity 174, member A	32						integral component of membrane (GO:0016021)		p.V32V(1)		breast(2)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9						CCCTGGCAGTCCTGCTGCAGG	0.672																																						ENST00000312637.4																			1	Substitution - coding silent(1)	p.V32V(1)	prostate(1)	breast(2)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9						c.(94-96)gtC>gtT		family with sequence similarity 174, member A							29	35	33					5																	99871330		2174	4259	6433	SO:0001819	synonymous_variant	345757					integral to membrane		g.chr5:99871330C>T	AY359108	CCDS4090.1	5q21.1	2008-06-19	2008-06-19	2008-06-19	ENSG00000174132	ENSG00000174132			24943	protein-coding gene	gene with protein product			"transmembrane protein 157"	TMEM157		12975309	Standard	NM_198507		Approved	UNQ1912	uc003knj.1	Q8TBP5	OTTHUMG00000128726	ENST00000312637.4:c.96C>T	5.37:g.99871330C>T							p.V32V	NM_198507.1	NP_940909.1	Q8TBP5	F174A_HUMAN			1	322	+			32					A8K0H4	Silent	SNP	ENST00000312637.4	37	c.96C>T	CCDS4090.1																																																																																				0.672	FAM174A-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000250631.2	NM_198507		7	82	0	0	0	0.335167	0	7	82					T	99871330	C	T	99871330	2	4	176	1	0	0	0	0	0	0	0	1	5495	842	30	3		3	FAM174A	5	99871330	Silent	SNP	C	TCGA-G9-6384-01A-11D-1786-08	99642949	99871330	81043930	9	8303											
PCDHA6	56142	broad.mit.edu	37	chr5	140209661	140209661	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgagccggcgctgacagcgaCggccacggttctggtgtcgc	5	7	16	13	6	1	2	0	2	1	0	2	3	1	2	2	4	2	2	2	4	0	1			TCGA-G9-6384-01A-11D-1786-08	TCGA-G9-6384-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	667ba573-9cd4-4916-8b54-d529c24cd63e	4b005f8d-1af2-4aff-87b6-de830251409b	g.chr5:140209661C>T	ENST00000529310.1	+	1	2099	c.1985C>T	c.(1984-1986)aCg>aTg	p.T662M	PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron	NM_018909.2|NM_031848.2|NM_031849.1	NP_061732.1|NP_114036.1|NP_114037.1	Q9UN73	PCDA6_HUMAN	protocadherin alpha 6	662	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.T662M(2)		NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	89			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGACAGCGACGGCCACGGTT	0.697																																						ENST00000529310.1																			2	Substitution - Missense(2)	p.T662M(2)	prostate(2)	NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						c.(1984-1986)aCg>aTg									37	44	42					5																	140209661		2203	4299	6502	SO:0001583	missense	0							g.chr5:140209661C>T	AF152484	CCDS47281.1, CCDS47282.1	5q31	2010-11-26			ENSG00000081842	ENSG00000081842		"Cadherins / Protocadherins : Clustered"	8672	other	complex locus constituent	"KIAA0345-like 8"	606312		CNRS2		10380929, 10662547	Standard	NM_018909		Approved	CNR2, CRNR2, PCDH-ALPHA6		Q9UN73	OTTHUMG00000163353	ENST00000529310.1:c.1985C>T	5.37:g.140209661C>T	ENSP00000433378:p.Thr662Met					PCDHA6_ENST00000527624.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron	p.T662M	NM_018909.2|NM_031848.1|NM_031849.1	NP_061732.1|NP_114036.1|NP_114037.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2099	+								O75283|Q9NRT8	Missense_Mutation	SNP	ENST00000529310.1	37	c.1985C>T	CCDS47281.1	.	.	.	.	.	.	.	.	.	.	C	11.37	1.619553	0.28801	.	.	ENSG00000081842	ENST00000529310	T	0.57107	0.42	3.98	3.98	0.46160	Cadherin (4);Cadherin-like (1);	0.000000	0.37715	U	0.001965	T	0.76018	0.3929	M	0.93808	3.46	0.80722	D	1	D;D	0.89917	0.998;1.0	P;D	0.69824	0.852;0.966	T	0.80970	-0.1144	10	0.66056	D	0.02	.	10.3652	0.44019	0.0:0.908:0.0:0.092	.	662;662	Q9UN73-3;Q9UN73	.;PCDA6_HUMAN	M	662	ENSP00000433378:T662M	ENSP00000433378:T662M	T	+	2	0	PCDHA6	140189845	0.994000	0.37717	0.821000	0.32701	0.008000	0.06430	3.293000	0.51779	2.216000	0.71823	0.306000	0.20318	ACG		0.697	PCDHA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372829.3	NM_018909		23	69	0	0	0	0.624587	0	23	69					T	140209661	C	T	140209661	3	4	176	1	0	0	0	0	1	0	0	0	11528	536	19	1	1987	1	PCDHA6	5	140209661	Missense_Mutation	SNP	C	TCGA-G9-6384-01A-11D-1786-08	40338331	140209661	40705599	10	8304											
PCDHGB3	56102	broad.mit.edu	37	chr5	140751900	140751900	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agcgcctgctggtcactgtgCgtgatggaggacagcagcct	7	8	15	11	2	1	1	1	1	0	0	1	3	1	3	2	3	5	2	2	3	0	0	rs376897075		TCGA-G9-6384-01A-11D-1786-08	TCGA-G9-6384-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	667ba573-9cd4-4916-8b54-d529c24cd63e	4b005f8d-1af2-4aff-87b6-de830251409b	g.chr5:140751900C>T	ENST00000576222.1	+	1	2070	c.1939C>T	c.(1939-1941)Cgt>Tgt	p.R647C	PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA6_ENST00000517434.1_5'Flank	NM_018924.2|NM_032097.1	NP_061747.1|NP_115268.1	Q9Y5G1	PCDGF_HUMAN	protocadherin gamma subfamily B, 3	647	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGTCACTGTGCGTGATGGAGG	0.652																																						ENST00000576222.1																			0				endometrium(1)|kidney(1)|lung(3)	5						c.(1939-1941)Cgt>Tgt				C	,,,,,,,CYS/ARG,CYS/ARG	0,4226		0,0,2113	45	51	49		,,,,,,,1939,1939	1.1	0	5		49	1,8485		0,1,4242	no	intron,intron,intron,intron,intron,intron,intron,missense,missense	PCDHGB3,PCDHGB2,PCDHGB1,PCDHGA5,PCDHGA4,PCDHGA3,PCDHGA2,PCDHGA1	NM_018912.2,NM_018915.2,NM_018916.3,NM_018917.2,NM_018918.2,NM_018922.2,NM_018923.2,NM_018924.2,NM_032097.1	,,,,,,,180,180	0,1,6355	TT,TC,CC		0.0118,0.0,0.0079	,,,,,,,,	,,,,,,,647/930,647/815	140751900	1,12711	2113	4243	6356	SO:0001583	missense	0							g.chr5:140751900C>T	AF152519	CCDS58980.1, CCDS75334.1	5q31	2010-01-26						"Cadherins / Protocadherins : Clustered"	8710	other	protocadherin		606301				10380929	Standard	NM_018924		Approved	PCDH-GAMMA-B3		Q9Y5G1		ENST00000576222.1:c.1939C>T	5.37:g.140751900C>T	ENSP00000461862:p.Arg647Cys					PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA2_ENST00000394576.2_Intron	p.R647C	NM_018924.2|NM_032097.1	NP_061747.1|NP_115268.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2070	+								A7E229|Q9Y5C7	Missense_Mutation	SNP	ENST00000576222.1	37	c.1939C>T	CCDS58980.1																																																																																				0.652	PCDHGB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437094.1	NM_018924		14	89	0	0	0	0.479597	0	14	89					T	140751900	C	T	140751900	3	4	176	1	0	0	0	0	1	0	0	0	11564	768	27	1	1941	1	PCDHGB3	5	140751900	Missense_Mutation	SNP	C	TCGA-G9-6384-01A-11D-1786-08	542239	140751900	40163360	11	8305											
ATP10B	23120	broad.mit.edu	37	chr5	160033839	160033839	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcatactcttctggagtggCgtggagcggcagcacaggac	9	8	14	10	2	3	0	1	0	2	0	3	3	3	3	0	5	3	2	0	5	1	2			TCGA-G9-6384-01A-11D-1786-08	TCGA-G9-6384-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	667ba573-9cd4-4916-8b54-d529c24cd63e	4b005f8d-1af2-4aff-87b6-de830251409b	g.chr5:160033839C>A	ENST00000327245.5	-	19	3939	c.3093G>T	c.(3091-3093)acG>acT	p.T1031T		NM_025153.2	NP_079429.2	O94823	AT10B_HUMAN	ATPase, class V, type 10B	1031					phospholipid translocation (GO:0045332)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)	p.T1031T(1)		NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TCTGGAGTGGCGTGGAGCGGC	0.512																																						ENST00000327245.5																			1	Substitution - coding silent(1)	p.T1031T(1)	prostate(1)	NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75						c.(3091-3093)acG>acT		ATPase, class V, type 10B							93	97	95					5																	160033839		2099	4222	6321	SO:0001819	synonymous_variant	23120				ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr5:160033839C>A	AB018258	CCDS43394.1	5q34	2010-04-20	2007-09-19		ENSG00000118322	ENSG00000118322		"ATPases / P-type"	13543	protein-coding gene	gene with protein product			"ATPase, Class V, type 10B"			9872452, 11015572	Standard	NM_025153		Approved	ATPVB, KIAA0715, FLJ21477	uc003lym.1	O94823	OTTHUMG00000163551	ENST00000327245.5:c.3093G>T	5.37:g.160033839C>A							p.T1031T	NM_025153.2	NP_079429.2	O94823	AT10B_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		19	3939	-	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	1031					Q9H725	Silent	SNP	ENST00000327245.5	37	c.3093G>T	CCDS43394.1																																																																																				0.512	ATP10B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374127.1	NM_025153		27	99	1	0	8.24728e-16	0.681144	9.85092e-16	27	99					A	160033839	C	A	160033839	2	1	176	1	0	0	0	0	0	0	0	1	1117	755	27	5		5	ATP10B	5	160033839	Silent	SNP	C	TCGA-G9-6384-01A-11D-1786-08	19281939	160033839	20881421	12	8306											
SCML4	256380	broad.mit.edu	37	chr6	108042009	108042009	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agaagacatggggctagtgcGgggaccaccagcggtggcag	10	4	18	9	2	0	2	0	0	0	2	0	3	0	3	2	6	2	2	2	6	2	1			TCGA-G9-6384-01A-11D-1786-08	TCGA-G9-6384-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	667ba573-9cd4-4916-8b54-d529c24cd63e	4b005f8d-1af2-4aff-87b6-de830251409b	g.chr6:108042009G>A	ENST00000369020.3	-	6	1116	c.871C>T	c.(871-873)Cgc>Tgc	p.R291C	SCML4_ENST00000369022.2_Missense_Mutation_p.R233C|SCML4_ENST00000479803.1_5'UTR|SCML4_ENST00000369021.3_Missense_Mutation_p.R262C|SCML4_ENST00000369025.2_Missense_Mutation_p.R49C	NM_198081.3	NP_932347.2	Q8N228	SCML4_HUMAN	sex comb on midleg-like 4 (Drosophila)	291	SAM.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)	p.R262C(1)		endometrium(2)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(1)	25		all_cancers(87;3.26e-06)|Acute lymphoblastic leukemia(125;3.08e-08)|all_hematologic(75;1.15e-06)|all_epithelial(87;0.00142)|Colorectal(196;0.0316)		BRCA - Breast invasive adenocarcinoma(108;0.01)|Epithelial(106;0.0509)|all cancers(137;0.0586)|OV - Ovarian serous cystadenocarcinoma(136;0.0758)		GGGCTAGTGCGGGGACCACCA	0.637																																						ENST00000369022.2																			1	Substitution - Missense(1)	p.R262C(1)	prostate(1)	endometrium(2)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(1)	25						c.(697-699)Cgc>Tgc		sex comb on midleg-like 4 (Drosophila)							48	55	52					6																	108042009		2203	4300	6503	SO:0001583	missense	256380				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr6:108042009G>A		CCDS5060.2, CCDS69163.1, CCDS75500.1	6q21	2013-01-10			ENSG00000146285	ENSG00000146285		"Sterile alpha motif (SAM) domain containing"	21397	protein-coding gene	gene with protein product							Standard	NM_001286409		Approved	dJ47M23.1	uc010kdf.3	Q8N228	OTTHUMG00000015313	ENST00000369020.3:c.871C>T	6.37:g.108042009G>A	ENSP00000358016:p.Arg291Cys					SCML4_ENST00000369021.3_Missense_Mutation_p.R262C|SCML4_ENST00000369020.3_Missense_Mutation_p.R291C|SCML4_ENST00000369025.2_Missense_Mutation_p.R49C|SCML4_ENST00000479803.1_5'UTR	p.R233C			Q8N228	SCML4_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.01)|Epithelial(106;0.0509)|all cancers(137;0.0586)|OV - Ovarian serous cystadenocarcinoma(136;0.0758)	5	906	-		all_cancers(87;3.26e-06)|Acute lymphoblastic leukemia(125;3.08e-08)|all_hematologic(75;1.15e-06)|all_epithelial(87;0.00142)|Colorectal(196;0.0316)	291					B0QZ10|B0QZ11|B7ZBX3|Q5JXD0|Q5T0T6|Q8IYY6	Missense_Mutation	SNP	ENST00000369020.3	37	c.697C>T	CCDS5060.2	.	.	.	.	.	.	.	.	.	.	G	12.43	1.934789	0.34189	.	.	ENSG00000146285	ENST00000369022;ENST00000369025;ENST00000369020;ENST00000369021	T;T;T	0.53640	0.84;0.83;0.61	5.19	2.47	0.30058	.	0.622280	0.17209	N	0.182794	T	0.50034	0.1592	M	0.70275	2.135	0.09310	N	0.999995	B;D;D	0.89917	0.002;0.998;1.0	B;P;D	0.69824	0.001;0.719;0.966	T	0.42682	-0.9437	10	0.59425	D	0.04	.	10.1039	0.42521	0.2135:0.0:0.7865:0.0	.	291;291;262	B4E0X3;Q8N228;Q8N228-3	.;SCML4_HUMAN;.	C	233;49;291;262	ENSP00000358018:R233C;ENSP00000358016:R291C;ENSP00000358017:R262C	ENSP00000358016:R291C	R	-	1	0	SCML4	108148702	0.980000	0.34600	0.002000	0.10522	0.152000	0.21847	2.222000	0.42926	0.356000	0.24157	0.650000	0.86243	CGC		0.637	SCML4-005	NOVEL	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000041700.3	XM_171128		4	87	0	0	0	0.150653	0	4	87					A	108042009	G	A	108042009	3	1	176	1	0	0	0	0	1	0	0	0	13911	1116	39	2	385	2	SCML4	6	108042009	Missense_Mutation	SNP	G	TCGA-G9-6384-01A-11D-1786-08		108042009	63073058	13	8307											
PCLO	27445	broad.mit.edu	37	chr7	82763829	82763829	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttttactgttggagcttgttCagctttgggctctaattttt	5	21	9	6	0	2	0	1	0	1	0	2	1	2	1	0	2	3	5	0	2	2	9			TCGA-G9-6384-01A-11D-1786-08	TCGA-G9-6384-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	667ba573-9cd4-4916-8b54-d529c24cd63e	4b005f8d-1af2-4aff-87b6-de830251409b	g.chr7:82763829C>G	ENST00000333891.9	-	3	3374	c.3037G>C	c.(3037-3039)Gaa>Caa	p.E1013Q	PCLO_ENST00000423517.2_Missense_Mutation_p.E1013Q	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein									p.E1013Q(2)|p.E959Q(1)		breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						GGAGCTTGTTCAGCTTTGGGC	0.433																																						ENST00000423517.2																			3	Substitution - Missense(3)	p.E1013Q(2)|p.E959Q(1)	prostate(3)	breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						c.(3037-3039)Gaa>Caa		piccolo presynaptic cytomatrix protein							84	82	83					7																	82763829		1836	4085	5921	SO:0001583	missense	27445				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	g.chr7:82763829C>G	AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"aczonin"	604918	"piccolo (presynaptic cytomatrix protein)"			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.3037G>C	7.37:g.82763829C>G	ENSP00000334319:p.Glu1013Gln					PCLO_ENST00000333891.8_Missense_Mutation_p.E1013Q	p.E1013Q	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN			3	3374	-			959						Missense_Mutation	SNP	ENST00000333891.9	37	c.3037G>C	CCDS47630.1	.	.	.	.	.	.	.	.	.	.	C	8.151	0.787480	0.16258	.	.	ENSG00000186472	ENST00000431819;ENST00000333891;ENST00000423517	T;T	0.76968	-1.06;-1.06	6.07	6.07	0.98685	.	.	.	.	.	T	0.73148	0.3550	L	0.51422	1.61	0.20764	N	0.999851	B;B	0.18610	0.029;0.029	B;B	0.19391	0.025;0.025	T	0.64622	-0.6364	9	0.87932	D	0	.	10.3528	0.43945	0.0:0.7923:0.1358:0.0719	.	1013;1013	Q9Y6V0-5;Q9Y6V0-6	.;.	Q	959;1013;1013	ENSP00000334319:E1013Q;ENSP00000388393:E1013Q	ENSP00000334319:E1013Q	E	-	1	0	PCLO	82601765	0.178000	0.23122	0.760000	0.31359	0.941000	0.58515	3.001000	0.49488	2.884000	0.98904	0.655000	0.94253	GAA		0.433	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510		12	33	0	0	0	0.38729	0	12	33					G	82763829	C	G	82763829	3	3	176	1	0	0	0	0	1	0	0	0	11583	835	29	5	12500	5	PCLO	7	82763829	Missense_Mutation	SNP	C	TCGA-G9-6384-01A-11D-1786-08		82763829	76374834	14	8308											
HTR5A	3361	broad.mit.edu	37	chr7	154862620	154862620	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgacccagagatggatttacCtgtgaacctaacctcctttt	10	13	7	11	0	0	3	0	2	0	1	1	5	1	4	5	1	3	0	5	1	3	5			TCGA-G9-6384-01A-11D-1786-08	TCGA-G9-6384-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	667ba573-9cd4-4916-8b54-d529c24cd63e	4b005f8d-1af2-4aff-87b6-de830251409b	g.chr7:154862620C>T	ENST00000287907.2	+	1	587	c.11C>T	c.(10-12)cCt>cTt	p.P4L	HTR5A-AS1_ENST00000543018.1_Intron|HTR5A-AS1_ENST00000395731.2_Intron|HTR5A-AS1_ENST00000493904.1_Intron	NM_024012.3	NP_076917.1	P47898	5HT5A_HUMAN	5-hydroxytryptamine (serotonin) receptor 5A, G protein-coupled	4					cAMP-mediated signaling (GO:0019933)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|hippocampus development (GO:0021766)|response to estradiol (GO:0032355)|serotonin receptor signaling pathway (GO:0007210)	dendrite (GO:0030425)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)	serotonin receptor activity (GO:0004993)	p.P4L(1)		NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(3)|stomach(1)	48	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.0238)	UCEC - Uterine corpus endometrioid carcinoma (81;0.171)	Asenapine(DB06216)|Loxapine(DB00408)|Olanzapine(DB00334)	ATGGATTTACCTGTGAACCTA	0.612																																						ENST00000287907.2																			1	Substitution - Missense(1)	p.P4L(1)	prostate(1)	NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(3)|stomach(1)	48						c.(10-12)cCt>cTt		5-hydroxytryptamine (serotonin) receptor 5A, G protein-coupled							115	124	121					7																	154862620		2203	4300	6503	SO:0001583	missense	3361					integral to plasma membrane	serotonin receptor activity	g.chr7:154862620C>T		CCDS5936.1	7q36.1	2012-08-08	2012-02-03		ENSG00000157219	ENSG00000157219		"5-HT (serotonin) receptors", "GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"	5300	protein-coding gene	gene with protein product		601305	"5-hydroxytryptamine (serotonin) receptor 5A"			7988681	Standard	NM_024012		Approved	5-HT5A	uc003wlu.2	P47898	OTTHUMG00000151327	ENST00000287907.2:c.11C>T	7.37:g.154862620C>T	ENSP00000287907:p.Pro4Leu					AC093726.4_ENST00000493904.1_Intron|AC093726.4_ENST00000395731.2_Intron|AC093726.4_ENST00000543018.1_Intron	p.P4L	NM_024012.3	NP_076917.1	P47898	5HT5A_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0238)	UCEC - Uterine corpus endometrioid carcinoma (81;0.171)	1	587	+	all_neural(206;0.119)	all_hematologic(28;0.0592)	4					Q2M2D2	Missense_Mutation	SNP	ENST00000287907.2	37	c.11C>T	CCDS5936.1	.	.	.	.	.	.	.	.	.	.	C	12.38	1.921979	0.33908	.	.	ENSG00000157219	ENST00000287907	T	0.70045	-0.45	4.56	2.73	0.32206	.	0.206931	0.25091	N	0.033216	T	0.43433	0.1247	N	0.08118	0	0.09310	N	0.999999	B	0.02656	0.0	B	0.01281	0.0	T	0.38415	-0.9662	10	0.62326	D	0.03	.	8.5981	0.33727	0.1522:0.7673:0.0:0.0804	.	4	P47898	5HT5A_HUMAN	L	4	ENSP00000287907:P4L	ENSP00000287907:P4L	P	+	2	0	HTR5A	154493553	0.001000	0.12720	0.002000	0.10522	0.979000	0.70002	1.373000	0.34272	0.529000	0.28599	0.467000	0.42956	CCT		0.612	HTR5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322240.1	NM_024012		27	133	0	0	0	0.706142	0	27	133					T	154862620	C	T	154862620	3	4	176	1	0	0	0	0	1	0	0	0	7450	681	24	3	13	3	HTR5A	7	154862620	Missense_Mutation	SNP	C	TCGA-G9-6384-01A-11D-1786-08	72098791	154862620	4276043	15	8309											
GSDMD	79792	broad.mit.edu	37	chr8	144643541	144643541	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctcccgtctggctgccagaCgtccttctcttcccggataa	5	11	9	16	3	2	1	0	0	2	1	6	2	5	2	4	2	1	2	4	2	1	3	rs201583128		TCGA-G9-6384-01A-11D-1786-08	TCGA-G9-6384-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	667ba573-9cd4-4916-8b54-d529c24cd63e	4b005f8d-1af2-4aff-87b6-de830251409b	g.chr8:144643541C>T	ENST00000526406.1	+	9	1567	c.684C>T	c.(682-684)gaC>gaT	p.D228D	GSDMD_ENST00000533063.1_Splice_Site_p.D276D|GSDMD_ENST00000262580.4_Splice_Site_p.D228D	NM_001166237.1	NP_001159709.1	P57764	GSDMD_HUMAN	gasdermin D	228					cellular response to extracellular stimulus (GO:0031668)			p.D228D(1)		breast(1)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	12						GGCTGCCAGACGTCCTTCTCT	0.637																																						ENST00000526406.1																			1	Substitution - coding silent(1)	p.D228D(1)	prostate(1)	breast(1)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	12						c.e9-1		gasdermin D		C	,	0,4388		0,0,2194	49	48	48		684,684	-7.7	0	8		48	2,8592	2.2+/-6.3	0,2,4295	no	coding-synonymous-near-splice,coding-synonymous-near-splice	GSDMD	NM_001166237.1,NM_024736.6	,	0,2,6489	TT,TC,CC		0.0233,0.0,0.0154	,	228/485,228/485	144643541	2,12980	2194	4297	6491	SO:0001630	splice_region_variant	79792							g.chr8:144643541C>T	AK096216	CCDS34956.1	8q24.3	2008-07-31	2008-07-31	2008-07-31		ENSG00000104518			25697	protein-coding gene	gene with protein product			"gasdermin domain containing 1"	GSDMDC1		15289881, 17350798	Standard	NM_024736		Approved	FLJ12150, DF5L	uc003yyg.3	P57764		ENST00000526406.1:c.683-1C>T	8.37:g.144643541C>T						GSDMD_ENST00000262580.4_Splice_Site_p.D228_splice|GSDMD_ENST00000533063.1_Splice_Site_p.D276_splice	p.D228_splice	NM_001166237.1	NP_001159709.1	P57764	GSDMD_HUMAN			9	1567	+			228					D3DWJ9|Q96Q98	Splice_Site	SNP	ENST00000526406.1	37	c.682_splice	CCDS34956.1																																																																																				0.637	GSDMD-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382046.3	NM_024736	Silent	3	14	0	0	0	0.150653	0	3	14					T	144643541	C	T	144643541	5	4	176	1	0	0	0	0	0	0	1	0	6819	550	19	1	702	1	GSDMD	8	144643541	Splice_Site	SNP	C	TCGA-G9-6384-01A-11D-1786-08		144643541	1720481	16	8310											
NRAP	4892	broad.mit.edu	37	chr10	115372082	115372082	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gggcagtggatgtttgtagtCctgattgctggccagggtct	5	13	16	7	0	1	1	0	1	1	0	2	2	2	2	2	4	1	4	2	4	1	3			TCGA-G9-6384-01A-11D-1786-08	TCGA-G9-6384-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	667ba573-9cd4-4916-8b54-d529c24cd63e	4b005f8d-1af2-4aff-87b6-de830251409b	g.chr10:115372082C>A	ENST00000359988.3	-	30	3653	c.3409G>T	c.(3409-3411)Gac>Tac	p.D1137Y	NRAP_ENST00000360478.3_Missense_Mutation_p.D1102Y|NRAP_ENST00000369360.3_Missense_Mutation_p.D1110Y|NRAP_ENST00000369358.4_Missense_Mutation_p.D1145Y	NM_001261463.1|NM_198060.3	NP_001248392.1|NP_932326.2			nebulin-related anchoring protein									p.D1137Y(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Colorectal(252;0.0233)|Breast(234;0.188)		Epithelial(162;0.00392)|all cancers(201;0.00569)		TGTTTGTAGTCCTGATTGCTG	0.542																																						ENST00000369358.4																			1	Substitution - Missense(1)	p.D1137Y(1)	prostate(1)	autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	95						c.(3433-3435)Gac>Tac		nebulin-related anchoring protein							130	115	120					10																	115372082		2203	4300	6503	SO:0001583	missense	4892					fascia adherens|muscle tendon junction	actin binding|muscle alpha-actinin binding|zinc ion binding	g.chr10:115372082C>A		CCDS7578.1, CCDS7579.1, CCDS73199.1	10q24-q26	2008-08-01			ENSG00000197893	ENSG00000197893			7988	protein-coding gene	gene with protein product		602873				12789664, 10320340	Standard	NM_006175		Approved		uc001lal.4	Q86VF7	OTTHUMG00000019072	ENST00000359988.3:c.3409G>T	10.37:g.115372082C>A	ENSP00000353078:p.Asp1137Tyr					NRAP_ENST00000369360.3_Missense_Mutation_p.D1110Y|NRAP_ENST00000360478.3_Missense_Mutation_p.D1102Y|NRAP_ENST00000359988.3_Missense_Mutation_p.D1137Y	p.D1145Y			Q86VF7	NRAP_HUMAN		Epithelial(162;0.00392)|all cancers(201;0.00569)	30	3677	-		Colorectal(252;0.0233)|Breast(234;0.188)	1137						Missense_Mutation	SNP	ENST00000359988.3	37	c.3433G>T	CCDS7579.1	.	.	.	.	.	.	.	.	.	.	C	23.8	4.460010	0.84317	.	.	ENSG00000197893	ENST00000369358;ENST00000369360;ENST00000359988;ENST00000360478	T;T;T;T	0.46063	0.88;0.88;0.88;0.88	5.62	5.62	0.85841	.	0.094604	0.64402	D	0.000001	T	0.71316	0.3325	M	0.86502	2.82	0.58432	D	0.999996	D;D;D	0.89917	1.0;1.0;0.993	D;D;D	0.75484	0.968;0.986;0.927	T	0.75139	-0.3423	10	0.72032	D	0.01	.	20.0281	0.97530	0.0:1.0:0.0:0.0	.	1137;1102;1137	A0AVL2;Q86VF7-4;Q86VF7	.;.;NRAP_HUMAN	Y	1145;1110;1137;1102	ENSP00000358365:D1145Y;ENSP00000358367:D1110Y;ENSP00000353078:D1137Y;ENSP00000353666:D1102Y	ENSP00000353078:D1137Y	D	-	1	0	NRAP	115362072	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.005000	0.70716	2.818000	0.97014	0.655000	0.94253	GAC		0.542	NRAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050425.2	NM_006175		13	81	1	0	0.000151284	0.435327	0.000162631	13	81					A	115372082	C	A	115372082	3	1	176	1	0	0	0	0	1	0	0	0	10638	855	30	5	1835	5	NRAP	10	115372082	Missense_Mutation	SNP	C	TCGA-G9-6384-01A-11D-1786-08		115372082	20162665	17	8311											
KNDC1	85442	broad.mit.edu	37	chr10	135012126	135012126	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggagtccgaggagaggggcgGccagagggagggagaaggtg	10	2	24	5	2	0	3	0	0	0	3	1	8	1	5	2	8	0	0	2	8	1	0			TCGA-G9-6384-01A-11D-1786-08	TCGA-G9-6384-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	667ba573-9cd4-4916-8b54-d529c24cd63e	4b005f8d-1af2-4aff-87b6-de830251409b	g.chr10:135012126G>T	ENST00000304613.3	+	14	2135	c.2114G>T	c.(2113-2115)gGc>gTc	p.G705V	KNDC1_ENST00000368572.2_Missense_Mutation_p.G705V|KNDC1_ENST00000368571.2_Missense_Mutation_p.G640V			Q76NI1	VKIND_HUMAN	kinase non-catalytic C-lobe domain (KIND) containing 1	705					cerebellar granule cell differentiation (GO:0021707)|positive regulation of protein phosphorylation (GO:0001934)|regulation of dendrite morphogenesis (GO:0048814)|small GTPase mediated signal transduction (GO:0007264)	dendrite (GO:0030425)|guanyl-nucleotide exchange factor complex (GO:0032045)|neuronal cell body (GO:0043025)	protein serine/threonine kinase activity (GO:0004674)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)	p.G705V(2)		NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	60		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)		GAGAGGGGCGGCCAGAGGGAG	0.721																																						ENST00000304613.3																			2	Substitution - Missense(2)	p.G705V(2)	prostate(2)	NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	60						c.(2113-2115)gGc>gTc		kinase non-catalytic C-lobe domain (KIND) containing 1							9	12	11					10																	135012126		2165	4255	6420	SO:0001583	missense	85442				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction			g.chr10:135012126G>T	AK074179	CCDS7674.1	10q26.3	2004-09-14	2004-04-07		ENSG00000171798	ENSG00000171798			29374	protein-coding gene	gene with protein product			"RasGEF domain family, member 2"	RASGEF2, C10orf23		11214970	Standard	NM_152643		Approved	KIAA1768, bB439H18.3, FLJ25027	uc001llz.1	Q76NI1	OTTHUMG00000019303	ENST00000304613.3:c.2114G>T	10.37:g.135012126G>T	ENSP00000304437:p.Gly705Val					KNDC1_ENST00000368571.2_Missense_Mutation_p.G640V|KNDC1_ENST00000368572.2_Missense_Mutation_p.G705V	p.G705V			Q76NI1	VKIND_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)	14	2135	+		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)	705					B0QZC5|Q5T233|Q6ZNH8|Q8TEE5|Q96LV7|Q9C095	Missense_Mutation	SNP	ENST00000304613.3	37	c.2114G>T	CCDS7674.1	.	.	.	.	.	.	.	.	.	.	G	7.258	0.604609	0.14002	.	.	ENSG00000171798	ENST00000304613;ENST00000368572;ENST00000368571	T;T;T	0.21191	2.52;2.52;2.02	3.29	-1.61	0.08399	.	2.121460	0.01980	N	0.044753	T	0.14570	0.0352	L	0.32530	0.975	0.09310	N	1	B;B;B	0.26809	0.16;0.069;0.005	B;B;B	0.25405	0.06;0.023;0.007	T	0.11470	-1.0586	10	0.40728	T	0.16	-3.6176	0.7351	0.00964	0.2417:0.1843:0.3859:0.188	.	705;640;705	Q76NI1-4;Q76NI1-2;Q76NI1	.;.;VKIND_HUMAN	V	705;705;640	ENSP00000304437:G705V;ENSP00000357561:G705V;ENSP00000357560:G640V	ENSP00000304437:G705V	G	+	2	0	KNDC1	134862116	0.000000	0.05858	0.000000	0.03702	0.031000	0.12232	0.318000	0.19504	-0.728000	0.04882	0.306000	0.20318	GGC		0.721	KNDC1-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000277044.3	NM_152643		3	20	1	0	1.23904e-05	0.184627	1.36612e-05	3	20					T	135012126	G	T	135012126	3	4	176	1	0	0	0	0	1	0	0	0	8426	1203	42	5	2168	5	KNDC1	10	135012126	Missense_Mutation	SNP	G	TCGA-G9-6384-01A-11D-1786-08	19640044	135012126	522621	18	8312											
ST5	6764	broad.mit.edu	37	chr11	8729383	8729383	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acagtacacctctggcaaccGgggccctttcccacttggct	7	9	9	16	1	1	0	0	0	1	0	2	0	2	0	4	4	2	3	4	4	2	3			TCGA-G9-6384-01A-11D-1786-08	TCGA-G9-6384-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	667ba573-9cd4-4916-8b54-d529c24cd63e	4b005f8d-1af2-4aff-87b6-de830251409b	g.chr11:8729383G>C	ENST00000534127.1	-	15	2756	c.2371C>G	c.(2371-2373)Cgg>Ggg	p.R791G	ST5_ENST00000526757.1_Missense_Mutation_p.R371G|ST5_ENST00000530438.1_Missense_Mutation_p.R371G|ST5_ENST00000357665.1_Missense_Mutation_p.R791G|ST5_ENST00000534278.1_Intron|ST5_ENST00000313726.6_Missense_Mutation_p.R791G|RPL27A_ENST00000531102.1_Intron|ST5_ENST00000526099.1_Missense_Mutation_p.R304G|ST5_ENST00000530991.1_Missense_Mutation_p.R263G	NM_005418.3	NP_005409.3	P78524	ST5_HUMAN	suppression of tumorigenicity 5	791	DENN. {ECO:0000255|PROSITE- ProRule:PRU00304}.				positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of Rab GTPase activity (GO:0032851)		Rab guanyl-nucleotide exchange factor activity (GO:0017112)	p.R791R(1)|p.R791G(1)		NS(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(13)|liver(1)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	39				Epithelial(150;2.63e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0352)		TCTGGCAACCGGGGCCCTTTC	0.577																																						ENST00000534127.1																			2	Substitution - Missense(1)|Substitution - coding silent(1)	p.R791R(1)|p.R791G(1)	large_intestine(1)|prostate(1)	NS(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(13)|liver(1)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	39						c.(2371-2373)Cgg>Ggg		suppression of tumorigenicity 5							48	43	45					11																	8729383		2201	4296	6497	SO:0001583	missense	6764				positive regulation of ERK1 and ERK2 cascade		protein binding	g.chr11:8729383G>C	U15131	CCDS7791.1, CCDS7792.1	11p15	2012-10-04				ENSG00000166444		"DENN/MADD domain containing"	11350	protein-coding gene	gene with protein product	"DENN/MADD domain containing 2B"	140750				1390339	Standard	NM_005418		Approved	HTS1, DENND2B, p126	uc001mgt.3	P78524		ENST00000534127.1:c.2371C>G	11.37:g.8729383G>C	ENSP00000433528:p.Arg791Gly					ST5_ENST00000534278.1_Intron|ST5_ENST00000530991.1_Missense_Mutation_p.R263G|ST5_ENST00000526099.1_Missense_Mutation_p.R304G|ST5_ENST00000530438.1_Missense_Mutation_p.R371G|ST5_ENST00000357665.1_Missense_Mutation_p.R791G|ST5_ENST00000526757.1_Missense_Mutation_p.R371G|ST5_ENST00000313726.6_Missense_Mutation_p.R791G|RPL27A_ENST00000531102.1_Intron	p.R791G	NM_005418.3	NP_005409.3	P78524	ST5_HUMAN		Epithelial(150;2.63e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0352)	15	2756	-			791			DENN.		B2R6X7|B3KXQ6|P78523|Q16492|Q7KYY2|Q7KZ12|Q8NE12|Q9BQQ6	Missense_Mutation	SNP	ENST00000534127.1	37	c.2371C>G	CCDS7791.1	.	.	.	.	.	.	.	.	.	.	G	17.06	3.291927	0.59976	.	.	ENSG00000166444	ENST00000526757;ENST00000534127;ENST00000313726;ENST00000530991;ENST00000357665;ENST00000526099;ENST00000530438;ENST00000533020	T;T;T;T;T;T;T;T	0.25579	2.81;3.12;3.12;2.8;3.12;2.79;2.81;1.79	4.35	4.35	0.52113	DENN (2);	0.000000	0.64402	D	0.000001	T	0.44871	0.1314	M	0.90595	3.13	0.80722	D	1	B;B;B	0.24618	0.016;0.107;0.015	B;B;B	0.34301	0.013;0.179;0.127	T	0.56637	-0.7946	10	0.87932	D	0	-3.4894	17.057	0.86536	0.0:0.0:1.0:0.0	.	304;371;791	B4DDL8;P78524-2;P78524	.;.;ST5_HUMAN	G	371;791;791;263;791;304;371;263	ENSP00000435097:R371G;ENSP00000433528:R791G;ENSP00000319678:R791G;ENSP00000432887:R263G;ENSP00000350294:R791G;ENSP00000436808:R304G;ENSP00000436802:R371G;ENSP00000433588:R263G	ENSP00000319678:R791G	R	-	1	2	ST5	8685959	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.218000	0.95166	2.280000	0.76307	0.555000	0.69702	CGG		0.577	ST5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386518.1	NM_005418		3	20	0	0	0	0.115264	0	3	20					C	8729383	G	C	8729383	3	2	176	1	0	0	0	0	1	0	0	0	15219	1115	39	5	1078	5	ST5	11	8729383	Missense_Mutation	SNP	G	TCGA-G9-6384-01A-11D-1786-08		8729383	126277133	19	8313											
FAM181B	220382	broad.mit.edu	37	chr11	82443763	82443763	+	Frame_Shift_Del	DEL	G	G	-																															gccgccgcggggggcagtcaGggggctctttttggtcgggg																										TCGA-G9-6384-01A-11D-1786-08	TCGA-G9-6384-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	667ba573-9cd4-4916-8b54-d529c24cd63e	19e9336f-2e5d-497a-a5ed-4490e8d27f2b	g.chr11:82443763delG	ENST00000329203.3	-	1	1143	c.1009delC	c.(1009-1011)ctgfs	p.L337fs		NM_175885.3	NP_787081.2	A6NEQ2	F181B_HUMAN	family with sequence similarity 181, member B	337	Pro-rich.									large_intestine(1)|lung(2)|prostate(1)	4						GGGGCAGTCAGGGGGCTCTTT	0.711																																						ENST00000329203.3																			0				large_intestine(1)|lung(2)|prostate(1)	4						c.(1009-1011)tgfs		family with sequence similarity 181, member B							1	1	1					11																	82443763		890	2221	3111	SO:0001589	frameshift_variant	220382							g.chr11:82443763delG	AK095054, BC039262	CCDS31648.1	11q14.1	2011-11-30			ENSG00000182103	ENSG00000182103			28512	protein-coding gene	gene with protein product						12477932	Standard	NM_175885		Approved	LOC220382, MGC33846	uc001ozp.3	A6NEQ2	OTTHUMG00000166869	ENST00000329203.3:c.1009delC	11.37:g.82443763delG	ENSP00000365295:p.Leu337fs						p.L337fs	NM_175885.3	NP_787081.2	A6NEQ2	F181B_HUMAN			1	1143	-			337			Pro-rich.		B2RWP1	Frame_Shift_Del	DEL	ENST00000329203.3	37	c.1009delC	CCDS31648.1																																																																																				0.711	FAM181B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391626.1	NM_175885		2	4						2	4	---	---	---	---	-	82443763	G	-	82443763	7	5	176	1	0	1	0	1	0	0	0	0	5509	991	35	0	275	0	FAM181B	11	82443763	Frame_Shift_Del	DEL	G	TCGA-G9-6384-01A-11D-1786-08	73714380	82443763	52562753	20	8314											
CLK3	1198	broad.mit.edu	37	chr15	74917313	74917313	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gggaggctgcccggctagaaAtcaacgtgctcaaaaaaatc	14	6	11	10	2	2	1	2	0	0	1	3	2	2	2	1	3	3	3	1	3	6	1			TCGA-G9-6384-01A-11D-1786-08	TCGA-G9-6384-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	667ba573-9cd4-4916-8b54-d529c24cd63e	4b005f8d-1af2-4aff-87b6-de830251409b	g.chr15:74917313A>G	ENST00000395066.3	+	6	1509	c.1048A>G	c.(1048-1050)Atc>Gtc	p.I350V	CLK3_ENST00000345005.4_Missense_Mutation_p.I202V|CLK3_ENST00000348245.3_3'UTR|CLK3_ENST00000352989.5_Missense_Mutation_p.I179V	NM_001130028.1	NP_001123500.1	P49761	CLK3_HUMAN	CDC-like kinase 3	350	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of RNA splicing (GO:0043484)	cytoplasmic vesicle (GO:0031410)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)	p.I202V(2)|p.I350V(1)		breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(2)|stomach(2)|urinary_tract(1)	15						CCGGCTAGAAATCAACGTGCT	0.542																																					Ovarian(133;694 1754 28950 29027 31859)	ENST00000395066.3																			3	Substitution - Missense(3)	p.I202V(2)|p.I350V(1)	prostate(3)	breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(2)|stomach(2)|urinary_tract(1)	15						c.(1048-1050)Atc>Gtc		CDC-like kinase 3							63	52	56					15																	74917313		2197	4296	6493	SO:0001583	missense	1198					acrosomal vesicle|nucleus	ATP binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr15:74917313A>G	L29220	CCDS10265.1, CCDS45304.1	15q24	2008-05-02			ENSG00000179335	ENSG00000179335		"CDC-like kinases"	2071	protein-coding gene	gene with protein product		602990				7990150, 9856501	Standard	NM_003992		Approved	clk3	uc010uln.2	P49761	OTTHUMG00000141320	ENST00000395066.3:c.1048A>G	15.37:g.74917313A>G	ENSP00000378505:p.Ile350Val					CLK3_ENST00000352989.5_Missense_Mutation_p.I179V|CLK3_ENST00000348245.3_3'UTR|CLK3_ENST00000345005.4_Missense_Mutation_p.I202V	p.I350V	NM_001130028.1	NP_001123500.1	P49761	CLK3_HUMAN			6	1509	+			350			Protein kinase.		D3DW59|Q53Y48|Q9BRS3|Q9BUJ7	Missense_Mutation	SNP	ENST00000395066.3	37	c.1048A>G	CCDS45304.1	.	.	.	.	.	.	.	.	.	.	A	30	5.050189	0.93740	.	.	ENSG00000179335	ENST00000345005;ENST00000395066;ENST00000454830;ENST00000352989	T;T	0.20332	2.08;2.08	5.27	5.27	0.74061	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	D	0.000001	T	0.21186	0.0510	N	0.17594	0.5	0.80722	D	1	B;P;P;B	0.37083	0.135;0.581;0.504;0.017	B;B;P;B	0.45474	0.272;0.424;0.482;0.043	T	0.07578	-1.0765	10	0.52906	T	0.07	.	15.1805	0.72952	1.0:0.0:0.0:0.0	.	350;55;129;179	P49761;B3KVF3;B3KUU7;G5E959	CLK3_HUMAN;.;.;.	V	202;202;350;179	ENSP00000344112:I202V;ENSP00000323106:I179V	ENSP00000344112:I202V	I	+	1	0	CLK3	72704366	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.311000	0.78958	1.994000	0.58287	0.459000	0.35465	ATC		0.542	CLK3-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000390442.3			7	42	0	0	0	0.248553	0	7	42					G	74917313	A	G	74917313	3	3	176	1	0	0	0	0	1	0	0	0	3538	101	4	4	1070	4	CLK3	15	74917313	Missense_Mutation	SNP	A	TCGA-G9-6384-01A-11D-1786-08		74917313	27614079	21	8315											
RASGRF1	5923	broad.mit.edu	37	chr15	79382656	79382656	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ccagcaggtaaagccccgagGgccgcgagctcgagtcgctc	8	4	14	15	5	0	0	0	0	0	0	3	3	0	0	4	2	3	4	4	2	2	1			TCGA-G9-6384-01A-11D-1786-08	TCGA-G9-6384-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	667ba573-9cd4-4916-8b54-d529c24cd63e	4b005f8d-1af2-4aff-87b6-de830251409b	g.chr15:79382656G>A	ENST00000419573.3	-	1	459	c.185C>T	c.(184-186)cCc>cTc	p.P62L	RASGRF1_ENST00000558480.2_Missense_Mutation_p.P62L	NM_002891.4	NP_002882.3	Q13972	RGRF1_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 1	62	PH 1. {ECO:0000255|PROSITE- ProRule:PRU00145}.				activation of Rac GTPase activity (GO:0032863)|cell proliferation (GO:0008283)|long-term memory (GO:0007616)|neuron projection development (GO:0031175)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Ras protein signal transduction (GO:0046579)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of neuronal synaptic plasticity (GO:0048168)|regulation of Rac protein signal transduction (GO:0035020)|regulation of Ras protein signal transduction (GO:0046578)|regulation of synaptic plasticity (GO:0048167)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|growth cone (GO:0030426)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.P62L(1)		breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						AAGCCCCGAGGGCCGCGAGCT	0.642																																						ENST00000419573.3																			1	Substitution - Missense(1)	p.P62L(1)	prostate(1)	breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						c.(184-186)cCc>cTc		Ras protein-specific guanine nucleotide-releasing factor 1							64	53	56					15																	79382656		2196	4293	6489	SO:0001583	missense	5923				activation of Rac GTPase activity|apoptosis|induction of apoptosis by extracellular signals|long-term memory|nerve growth factor receptor signaling pathway|neuron projection development|regulation of Rac protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|growth cone|plasma membrane|synaptosome	Rho guanyl-nucleotide exchange factor activity	g.chr15:79382656G>A	M91815	CCDS10309.1, CCDS42065.1, CCDS45320.1	15q24	2013-01-10			ENSG00000058335	ENSG00000058335		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	9875	protein-coding gene	gene with protein product		606600		GRF1		7684828, 1379731	Standard	NM_153815		Approved	CDC25L, CDC25, GRF55, H-GRF55, GNRP, PP13187	uc002beq.3	Q13972	OTTHUMG00000144172	ENST00000419573.3:c.185C>T	15.37:g.79382656G>A	ENSP00000405963:p.Pro62Leu					RASGRF1_ENST00000558480.2_Missense_Mutation_p.P62L	p.P62L	NM_002891.4	NP_002882.3	Q13972	RGRF1_HUMAN			1	459	-			62			PH 1.		F8VPA5|H0YKF2|J3KQP9|Q16027	Missense_Mutation	SNP	ENST00000419573.3	37	c.185C>T	CCDS10309.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.056330	0.76074	.	.	ENSG00000058335	ENST00000419573;ENST00000394741	T	0.15017	2.46	3.69	3.69	0.42338	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.171734	0.37669	N	0.002000	T	0.43942	0.1270	M	0.86343	2.81	0.80722	D	1	D;D;D	0.59767	0.986;0.975;0.968	D;D;P	0.65573	0.917;0.936;0.818	T	0.54118	-0.8341	10	0.87932	D	0	.	12.9679	0.58494	0.0:0.0:1.0:0.0	.	62;62;62	Q8IUU5;Q13972;F8VPA5	.;RGRF1_HUMAN;.	L	62	ENSP00000405963:P62L	ENSP00000378224:P62L	P	-	2	0	RASGRF1	77169711	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	8.549000	0.90672	1.899000	0.54978	0.313000	0.20887	CCC		0.642	RASGRF1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000291371.3	NM_002891		16	47	0	0	0	0.479597	0	16	47					A	79382656	G	A	79382656	3	1	176	1	0	0	0	0	1	0	0	0	13072	1232	43	3	3748	3	RASGRF1	15	79382656	Missense_Mutation	SNP	G	TCGA-G9-6384-01A-11D-1786-08	4465343	79382656	23148736	22	8316											
KIAA0556	23247	broad.mit.edu	37	chr16	27585275	27585275	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cctgctcacgagagaaaaagGaggtaaatgtgtccctggcg	12	7	13	9	2	1	1	1	0	0	1	2	4	2	2	2	3	1	2	2	3	4	1			TCGA-G9-6384-01A-11D-1786-08	TCGA-G9-6384-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	667ba573-9cd4-4916-8b54-d529c24cd63e	4b005f8d-1af2-4aff-87b6-de830251409b	g.chr16:27585275G>T	ENST00000261588.4	+	2	80	c.61G>T	c.(61-63)Gag>Tag	p.E21*		NM_015202.2	NP_056017.2	O60303	K0556_HUMAN	KIAA0556	21						extracellular space (GO:0005615)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.E21*(2)		breast(4)|endometrium(7)|kidney(8)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	76						AGAGAAAAAGGAGGTAAATGT	0.488																																						ENST00000261588.4																			2	Substitution - Nonsense(2)	p.E21*(2)	prostate(2)	breast(4)|endometrium(7)|kidney(8)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	76						c.(61-63)Gag>Tag		KIAA0556							80	70	73					16																	27585275		2197	4300	6497	SO:0001587	stop_gained	23247							g.chr16:27585275G>T	AB011128	CCDS32415.1	16p12.1-p11.2	2012-11-30			ENSG00000047578	ENSG00000047578			29068	protein-coding gene	gene with protein product						9628581	Standard	NM_015202		Approved		uc002dow.3	O60303	OTTHUMG00000176780	ENST00000261588.4:c.61G>T	16.37:g.27585275G>T	ENSP00000261588:p.Glu21*						p.E21*	NM_015202.2	NP_056017.2	O60303	K0556_HUMAN			2	80	+			21					A7E2C2	Nonsense_Mutation	SNP	ENST00000261588.4	37	c.61G>T	CCDS32415.1	.	.	.	.	.	.	.	.	.	.	G	31	5.059145	0.93846	.	.	ENSG00000047578	ENST00000261588	.	.	.	5.54	5.54	0.83059	.	0.000000	0.56097	D	0.000032	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.14252	T	0.57	-3.8663	14.9987	0.71455	0.0:0.0:1.0:0.0	.	.	.	.	X	21	.	ENSP00000261588:E21X	E	+	1	0	KIAA0556	27492776	1.000000	0.71417	1.000000	0.80357	0.855000	0.48748	4.489000	0.60309	2.598000	0.87819	0.650000	0.86243	GAG		0.488	KIAA0556-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433724.1	NM_015202		11	29	1	0	6.81908e-15	0.457914	7.92487e-15	11	29					T	27585275	G	T	27585275	4	4	176	1	0	0	0	0	0	1	0	0	8183	1175	41	5	67	5	KIAA0556	16	27585275	Nonsense_Mutation	SNP	G	TCGA-G9-6384-01A-11D-1786-08		27585275	62769478	23	8317											
ZNF689	115509	broad.mit.edu	37	chr16	30620889	30620889	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggtactcctgcggatctagAgcagccggttcccagtcatc	7	9	12	13	2	2	1	1	0	1	1	5	2	4	2	3	3	4	3	3	3	2	3			TCGA-G9-6384-01A-11D-1786-08	TCGA-G9-6384-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	667ba573-9cd4-4916-8b54-d529c24cd63e	4b005f8d-1af2-4aff-87b6-de830251409b	g.chr16:30620889A>C	ENST00000287461.3	-	2	613	c.276T>G	c.(274-276)gcT>gcG	p.A92A	RP11-146F11.5_ENST00000563540.1_RNA|ZNF689_ENST00000566673.1_5'UTR	NM_138447.1	NP_612456.1	Q96CS4	ZN689_HUMAN	zinc finger protein 689	92	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|skeletal muscle cell differentiation (GO:0035914)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.A92A(1)		NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|prostate(1)|urinary_tract(1)	14			Colorectal(24;0.198)			GCGGATCTAGAGCAGCCGGTT	0.547																																						ENST00000287461.3																			1	Substitution - coding silent(1)	p.A92A(1)	prostate(1)	NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|prostate(1)|urinary_tract(1)	14						c.(274-276)gcT>gcG		zinc finger protein 689							110	105	107					16																	30620889		2197	4300	6497	SO:0001819	synonymous_variant	115509				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:30620889A>C	BC014000	CCDS10686.1	16p11.2	2013-01-08			ENSG00000156853	ENSG00000156853		"Zinc fingers, C2H2-type", "-"	25173	protein-coding gene	gene with protein product							Standard	NM_138447		Approved	FLJ90415	uc031qvq.1	Q96CS4	OTTHUMG00000132415	ENST00000287461.3:c.276T>G	16.37:g.30620889A>C						ZNF689_ENST00000566673.1_5'UTR	p.A92A	NM_138447.1	NP_612456.1	Q96CS4	ZN689_HUMAN	Colorectal(24;0.198)		2	613	-			92			KRAB.		Q658J5	Silent	SNP	ENST00000287461.3	37	c.276T>G	CCDS10686.1																																																																																				0.547	ZNF689-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255552.1	NM_138447		20	64	0	0	0	0.575678	0	20	64					C	30620889	A	C	30620889	2	2	176	1	0	0	0	0	0	0	0	1	18091	291	11	5		5	ZNF689	16	30620889	Silent	SNP	A	TCGA-G9-6384-01A-11D-1786-08	3035614	30620889	59733864	24	8318											
THEG	51298	broad.mit.edu	37	chr19	375680	375680	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cacctgatttcaggaatgtcCtcttccaagtccttgtccag	8	13	7	13	0	2	1	1	1	1	0	6	2	6	2	5	1	0	0	5	1	2	3			TCGA-G9-6384-01A-11D-1786-08	TCGA-G9-6384-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	667ba573-9cd4-4916-8b54-d529c24cd63e	4b005f8d-1af2-4aff-87b6-de830251409b	g.chr19:375680C>T	ENST00000342640.4	-	1	333	c.291G>A	c.(289-291)gaG>gaA	p.E97E	THEG_ENST00000346878.2_Silent_p.E97E	NM_016585.4	NP_057669.1	Q9P2T0	THEG_HUMAN	theg spermatid protein	97					cell differentiation (GO:0030154)|chaperone-mediated protein complex assembly (GO:0051131)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	nucleus (GO:0005634)		p.E97E(1)		NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(2)|soft_tissue(1)	29		all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CAGGAATGTCCTCTTCCAAGT	0.657																																						ENST00000342640.4																			1	Substitution - coding silent(1)	p.E97E(1)	prostate(1)	NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(2)|soft_tissue(1)	29						c.(289-291)gaG>gaA		theg spermatid protein							114	122	119					19																	375680		2203	4300	6503	SO:0001819	synonymous_variant	51298				cell differentiation|chaperone-mediated protein complex assembly|multicellular organismal development|spermatogenesis	nucleus	protein binding	g.chr19:375680C>T	AF268610	CCDS12025.1, CCDS12026.1	19p13.3	2012-02-24	2012-02-24		ENSG00000105549	ENSG00000105549			13706	protein-coding gene	gene with protein product	"cancer/testis antigen 56"	609503	"Theg homolog (mouse)"			11173852	Standard	NM_016585		Approved	CT56, THEG1	uc002lol.3	Q9P2T0	OTTHUMG00000165491	ENST00000342640.4:c.291G>A	19.37:g.375680C>T						THEG_ENST00000346878.2_Silent_p.E97E	p.E97E	NM_016585.4	NP_057669.1	Q9P2T0	THEG_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	1	333	-		all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)	97					A6NMJ8	Silent	SNP	ENST00000342640.4	37	c.291G>A	CCDS12025.1																																																																																				0.657	THEG-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000384431.2			36	169	0	0	0	0.812448	0	36	169					T	375680	C	T	375680	2	4	176	1	0	0	0	0	0	0	0	1	15854	680	24	3		3	THEG	19	375680	Silent	SNP	C	TCGA-G9-6384-01A-11D-1786-08		375680	58753303	25	8319											
ZNF257	113835	broad.mit.edu	37	chr19	22271354	22271354	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agtgtggcaaagcctttaacCggtcttcacacattactcaa	12	11	7	11	1	3	0	2	0	1	0	3	0	3	0	2	2	3	1	2	2	4	4	rs17853619		TCGA-G9-6384-01A-11D-1786-08	TCGA-G9-6384-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	667ba573-9cd4-4916-8b54-d529c24cd63e	4b005f8d-1af2-4aff-87b6-de830251409b	g.chr19:22271354C>T	ENST00000594947.1	+	4	946	c.802C>T	c.(802-804)Cgg>Tgg	p.R268W		NM_033468.2	NP_258429.2	Q9Y2Q1	ZN257_HUMAN	zinc finger protein 257	268					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.R268W(1)		haematopoietic_and_lymphoid_tissue(2)|lung(4)	6		all_lung(12;0.0961)|Lung NSC(12;0.103)				AGCCTTTAACCGGTCTTCACA	0.388																																						ENST00000594947.1																			1	Substitution - Missense(1)	p.R268W(1)	prostate(1)	haematopoietic_and_lymphoid_tissue(2)|lung(4)	6						c.(802-804)Cgg>Tgg		zinc finger protein 257							41	44	43					19																	22271354		2078	4253	6331	SO:0001583	missense	113835				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:22271354C>T	AF070651	CCDS46030.1	19p12	2014-02-14			ENSG00000197134	ENSG00000197134		"Zinc fingers, C2H2-type", "-"	13498	protein-coding gene	gene with protein product		606957				10585455	Standard	NM_033468		Approved	BMZF-4	uc010ecx.3	Q9Y2Q1	OTTHUMG00000182927	ENST00000594947.1:c.802C>T	19.37:g.22271354C>T	ENSP00000470209:p.Arg268Trp						p.R268W	NM_033468.2	NP_258429.2	Q9Y2Q1	ZN257_HUMAN			4	946	+		all_lung(12;0.0961)|Lung NSC(12;0.103)	268					B3KPS4|E9PG34|Q8NE34	Missense_Mutation	SNP	ENST00000594947.1	37	c.802C>T	CCDS46030.1	.	.	.	.	.	.	.	.	.	.	C	0.908	-0.719915	0.03182	.	.	ENSG00000197134	ENST00000435820;ENST00000397123	.	.	.	1.11	-2.23	0.06930	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.29491	0.0735	L	0.59436	1.845	0.09310	N	1	B	0.24618	0.107	B	0.04013	0.001	T	0.21449	-1.0245	8	0.25106	T	0.35	.	3.081	0.06262	0.2075:0.1824:0.0:0.6101	.	268	Q9Y2Q1	ZN257_HUMAN	W	268;240	.	ENSP00000380312:R240W	R	+	1	2	ZNF257	22063194	0.001000	0.12720	0.002000	0.10522	0.195000	0.23768	0.878000	0.28126	-0.628000	0.05582	-0.657000	0.03884	CGG		0.388	ZNF257-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464382.1			3	33	0	0	0	0.115264	0	3	33					T	22271354	C	T	22271354	3	4	176	1	0	0	0	0	1	0	0	0	17797	643	23	2	816	2	ZNF257	19	22271354	Missense_Mutation	SNP	C	TCGA-G9-6384-01A-11D-1786-08	21895674	22271354	36857629	26	8320											
USP16	10600	broad.mit.edu	37	chr21	30411465	30411465	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accgaaagaactcttttctcAggtctgtaaaaagtgagtat	14	12	8	7	1	3	2	1	1	3	1	4	3	3	2	1	1	1	2	1	1	6	4			TCGA-G9-6384-01A-11D-1786-08	TCGA-G9-6384-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	667ba573-9cd4-4916-8b54-d529c24cd63e	4b005f8d-1af2-4aff-87b6-de830251409b	g.chr21:30411465A>G	ENST00000334352.4	+	9	1082	c.851A>G	c.(850-852)cAg>cGg	p.Q284R	USP16_ENST00000399976.2_Missense_Mutation_p.Q284R|USP16_ENST00000399975.3_Missense_Mutation_p.Q283R|USP16_ENST00000535828.1_Intron	NM_001032410.1	NP_001027582.1			ubiquitin specific peptidase 16									p.Q284R(1)		breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(2)	34						CTCTTTTCTCAGGTCTGTAAA	0.378																																					Melanoma(92;625 1444 27493 34101 44971)	ENST00000334352.4																			1	Substitution - Missense(1)	p.Q284R(1)	prostate(1)	breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(2)	34						c.(850-852)cAg>cGg		ubiquitin specific peptidase 16							63	66	65					21																	30411465		2203	4300	6503	SO:0001583	missense	0				cell division|histone deubiquitination|mitosis|positive regulation of transcription, DNA-dependent|protein homotetramerization|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	cysteine-type endopeptidase activity|histone binding|transcription coactivator activity|ubiquitin binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding	g.chr21:30411465A>G	AF126736	CCDS13583.1, CCDS42912.1	21q21	2008-04-11	2005-08-08		ENSG00000156256	ENSG00000156256		"Ubiquitin-specific peptidases"	12614	protein-coding gene	gene with protein product		604735	"ubiquitin specific protease 16"			12838346	Standard	NM_006447		Approved	Ubp-M	uc002ymy.3	Q9Y5T5	OTTHUMG00000078802	ENST00000334352.4:c.851A>G	21.37:g.30411465A>G	ENSP00000334808:p.Gln284Arg					USP16_ENST00000399975.3_Missense_Mutation_p.Q283R|USP16_ENST00000399976.2_Missense_Mutation_p.Q284R|USP16_ENST00000535828.1_Intron	p.Q284R	NM_001032410.1	NP_001027582.1	Q9Y5T5	UBP16_HUMAN			9	1082	+			284						Missense_Mutation	SNP	ENST00000334352.4	37	c.851A>G	CCDS13583.1	.	.	.	.	.	.	.	.	.	.	A	24.0	4.487335	0.84854	.	.	ENSG00000156256	ENST00000399975;ENST00000399976;ENST00000334352	T;T;T	0.30448	1.53;1.53;1.53	5.82	4.6	0.57074	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.000000	0.85682	D	0.000000	T	0.38692	0.1050	N	0.17674	0.51	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.91635	0.995;0.999;0.998	T	0.31308	-0.9948	10	0.66056	D	0.02	.	11.9104	0.52735	0.8697:0.0:0.0:0.1303	.	269;283;284	Q9Y5T5-3;Q9Y5T5-2;Q9Y5T5	.;.;UBP16_HUMAN	R	283;284;284	ENSP00000382857:Q283R;ENSP00000382858:Q284R;ENSP00000334808:Q284R	ENSP00000334808:Q284R	Q	+	2	0	USP16	29333336	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.745000	0.68672	2.227000	0.72691	0.454000	0.30748	CAG		0.378	USP16-003	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000171847.1			5	56	0	0	0	0.184627	0	5	56					G	30411465	A	G	30411465	3	3	176	1	0	0	0	0	1	0	0	0	17044	188	7	4	877	4	USP16	21	30411465	Missense_Mutation	SNP	A	TCGA-G9-6384-01A-11D-1786-08		30411465	17718430	27	8321											
CCT8L2	150160	broad.mit.edu	37	chr22	17073169	17073169	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgggtttgtcctgcttccCggaggagccatgctgctggg	3	11	15	12	1	0	0	0	0	0	0	2	2	2	2	4	4	4	4	4	4	0	2	rs573220545		TCGA-G9-6384-01A-11D-1786-08	TCGA-G9-6384-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	667ba573-9cd4-4916-8b54-d529c24cd63e	4b005f8d-1af2-4aff-87b6-de830251409b	g.chr22:17073169C>A	ENST00000359963.3	-	1	531	c.272G>T	c.(271-273)cGg>cTg	p.R91L		NM_014406.4	NP_055221.1	Q96SF2	TCPQM_HUMAN	chaperonin containing TCP1, subunit 8 (theta)-like 2	91					anion transport (GO:0006820)|cellular protein metabolic process (GO:0044267)|potassium ion transmembrane transport (GO:0071805)|transport (GO:0006810)	cytoplasm (GO:0005737)	anion channel activity (GO:0005253)|ATP binding (GO:0005524)|calcium-activated potassium channel activity (GO:0015269)	p.R91L(1)		breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1)	67	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				TCCTGCTTCCCGGAGGAGCCA	0.602																																						ENST00000359963.3																			1	Substitution - Missense(1)	p.R91L(1)	prostate(1)	breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1)	67						c.(271-273)cGg>cTg		chaperonin containing TCP1, subunit 8 (theta)-like 2							74	60	65					22																	17073169		2203	4300	6503	SO:0001583	missense	150160				cellular protein metabolic process	cytoplasm	anion channel activity|ATP binding|calcium-activated potassium channel activity	g.chr22:17073169C>A	AP003553	CCDS13738.1	22q11.1	2011-09-01			ENSG00000198445	ENSG00000198445			15553	protein-coding gene	gene with protein product							Standard	NM_014406		Approved	CESK1	uc002zlp.1	Q96SF2	OTTHUMG00000141302	ENST00000359963.3:c.272G>T	22.37:g.17073169C>A	ENSP00000353048:p.Arg91Leu						p.R91L	NM_014406.4	NP_055221.1	Q96SF2	TCPQM_HUMAN			1	531	-	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)	91					A4QPH3|Q9UJS3	Missense_Mutation	SNP	ENST00000359963.3	37	c.272G>T	CCDS13738.1	.	.	.	.	.	.	.	.	.	.	c	8.895	0.954924	0.18431	.	.	ENSG00000198445	ENST00000359963	T	0.79454	-1.27	2.0	2.0	0.26442	.	0.264998	0.19890	U	0.103744	T	0.68146	0.2969	L	0.44542	1.39	0.25029	N	0.991289	B	0.18741	0.03	B	0.24701	0.055	T	0.63457	-0.6633	10	0.87932	D	0	-15.0592	7.4831	0.27417	0.0:1.0:0.0:0.0	.	91	Q96SF2	TCPQM_HUMAN	L	91	ENSP00000353048:R91L	ENSP00000353048:R91L	R	-	2	0	CCT8L2	15453169	0.050000	0.20438	0.175000	0.22980	0.102000	0.19082	0.014000	0.13333	1.126000	0.42016	0.393000	0.25936	CGG		0.602	CCT8L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280580.1			3	47	1	0	0.115264	0.115264	0.118008	3	47					A	17073169	C	A	17073169	3	1	176	1	0	0	0	0	1	0	0	0	2961	652	23	5	1405	5	CCT8L2	22	17073169	Missense_Mutation	SNP	C	TCGA-G9-6384-01A-11D-1786-08		17073169	34231397	28	8322											
MN1	4330	broad.mit.edu	37	chr22	28194936	28194936	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgctgctgctgctgctgttgCtgctgctgctgctgctgctg	0	15	14	12	0	0	0	0	0	0	0	0	0	0	0	0	0	12	13	0	0	0	1	rs45597040	byFrequency	TCGA-G9-6384-01A-11D-1786-08	TCGA-G9-6384-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	667ba573-9cd4-4916-8b54-d529c24cd63e	4b005f8d-1af2-4aff-87b6-de830251409b	g.chr22:28194936C>T	ENST00000302326.4	-	1	2550	c.1596G>A	c.(1594-1596)caG>caA	p.Q532Q		NM_002430.2	NP_002421.3	Q10571	MN1_HUMAN	meningioma (disrupted in balanced translocation) 1	532	Poly-Gln.				intramembranous ossification (GO:0001957)			p.Q532Q(1)		NS(1)|breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	45						gctgctgttgctgctgctgct	0.652			T	ETV6	"AML, meningioma"																																	ENST00000302326.4				Dom	yes		22	22q13	4330	T	meningioma (disrupted in balanced translocation) 1			"L, O"	ETV6		"AML, meningioma"		1	Substitution - coding silent(1)	p.Q532Q(1)	prostate(1)	NS(1)|breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	45						c.(1594-1596)caG>caA		meningioma (disrupted in balanced translocation) 1							4	5	5					22																	28194936		1795	3654	5449	SO:0001819	synonymous_variant	4330						binding	g.chr22:28194936C>T	X82209	CCDS42998.1	22q12.1	2010-09-29			ENSG00000169184	ENSG00000169184			7180	protein-coding gene	gene with protein product	"probable tumor suppressor protein MN1"	156100	"meningioma chromosome region"	MGCR		7731706, 12569362	Standard	NM_002430		Approved	MGCR1-PEN, MGCR1	uc003adj.3	Q10571	OTTHUMG00000150975	ENST00000302326.4:c.1596G>A	22.37:g.28194936C>T							p.Q532Q	NM_002430.2	NP_002421.3	Q10571	MN1_HUMAN			1	2550	-			532			Poly-Gln.		A9Z1V9	Silent	SNP	ENST00000302326.4	37	c.1596G>A	CCDS42998.1																																																																																				0.652	MN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320737.1	NM_002430		3	12	0	0	0	0.115264	0	3	12					T	28194936	C	T	28194936	2	4	176	1	0	0	0	0	0	0	0	1	9673	796	28	3		3	MN1	22	28194936	Silent	SNP	C	TCGA-G9-6384-01A-11D-1786-08	11121767	28194936	23109630	29	8323											
ARHGAP36	158763	broad.mit.edu	37	chrX	130220378	130220378	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagcacttgattttatcagaCgcaggaacttgaggaagatc	14	10	10	7	1	1	4	1	2	0	2	2	6	1	6	0	2	2	2	0	2	4	4	rs373442691		TCGA-G9-6384-01A-11D-1786-08	TCGA-G9-6384-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	667ba573-9cd4-4916-8b54-d529c24cd63e	4b005f8d-1af2-4aff-87b6-de830251409b	g.chrX:130220378C>T	ENST00000276211.5	+	10	1702	c.1357C>T	c.(1357-1359)Cgc>Tgc	p.R453C	ARHGAP36_ENST00000370921.1_Missense_Mutation_p.R317C|ARHGAP36_ENST00000370922.1_Missense_Mutation_p.R441C	NM_144967.3	NP_659404.2	Q6ZRI8	RHG36_HUMAN	Rho GTPase activating protein 36	453					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)	p.R453C(2)		breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(16)|lung(31)|ovary(4)|prostate(4)|skin(3)|urinary_tract(2)	71						TTTTATCAGACGCAGGAACTT	0.473																																						ENST00000276211.5																			2	Substitution - Missense(2)	p.R453C(2)	prostate(2)	breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(16)|lung(31)|ovary(4)|prostate(4)|skin(3)|urinary_tract(2)	71						c.(1357-1359)Cgc>Tgc		Rho GTPase activating protein 36		C	CYS/ARG	0,3835		0,0,0,1632,571	101	96	98		1357	3.8	1	X		98	1,6727		0,0,1,2428,1871	no	missense	ARHGAP36	NM_144967.3	180	0,0,1,4060,2442	TT,TC,T,CC,C		0.0149,0.0,0.0095	probably-damaging	453/548	130220378	1,10562	2203	4300	6503	SO:0001583	missense	158763				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	g.chrX:130220378C>T		CCDS14628.1, CCDS65320.1	Xq26.1	2011-06-29			ENSG00000147256	ENSG00000147256		"Rho GTPase activating proteins"	26388	protein-coding gene	gene with protein product							Standard	NM_144967		Approved	FLJ30058	uc004evz.3	Q6ZRI8	OTTHUMG00000022402	ENST00000276211.5:c.1357C>T	X.37:g.130220378C>T	ENSP00000276211:p.Arg453Cys					ARHGAP36_ENST00000370921.1_Missense_Mutation_p.R317C|ARHGAP36_ENST00000370922.1_Missense_Mutation_p.R441C	p.R453C	NM_144967.3	NP_659404.2	Q6ZRI8	RHG36_HUMAN			10	1702	+			453					B7Z234|B7Z439|Q5JRL9|Q5JRM0|Q5JRM1|Q96NU6	Missense_Mutation	SNP	ENST00000276211.5	37	c.1357C>T	CCDS14628.1	.	.	.	.	.	.	.	.	.	.	C	16.09	3.025390	0.54683	0.0	1.49E-4	ENSG00000147256	ENST00000276211;ENST00000370922;ENST00000412432;ENST00000370921	T;T;T;T	0.16073	2.38;2.37;2.4;2.56	4.69	3.83	0.44106	.	0.000000	0.45867	D	0.000334	T	0.19167	0.0460	N	0.08118	0	0.58432	D	0.999992	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.83275	0.996;0.996;0.99	T	0.09952	-1.0651	10	0.72032	D	0.01	.	7.7458	0.28869	0.0:0.8835:0.0:0.1165	.	422;441;453	Q6ZRI8-2;Q6ZRI8-4;Q6ZRI8	.;.;RHG36_HUMAN	C	453;441;422;317	ENSP00000276211:R453C;ENSP00000359960:R441C;ENSP00000408515:R422C;ENSP00000359959:R317C	ENSP00000276211:R453C	R	+	1	0	ARHGAP36	130048059	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	1.623000	0.37008	1.088000	0.41272	0.600000	0.82982	CGC		0.473	ARHGAP36-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355073.1	NM_144967		22	30	0	0	0	0.624587	0	22	30					T	130220378	C	T	130220378	3	4	176	1	0	0	0	0	1	0	0	0	883	536	19	1	1391	1	ARHGAP36	23	130220378	Missense_Mutation	SNP	C	TCGA-G9-6384-01A-11D-1786-08		130220378	25050182	30	8324											
KIF1B	23095	broad.mit.edu	37	chr1	10363477	10363477	+	Intron	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggctgtcaaagagatttgctAtgaggttgctctcaatgact	10	13	11	7	0	2	3	2	2	1	1	3	4	2	3	0	2	2	4	0	2	3	3			TCGA-G9-6385-01A-11D-1786-08	TCGA-G9-6385-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe227d04-2285-41ff-b5b8-421a317a61c7	fc787cb2-b174-4f58-b4db-22eb3d987661	g.chr1:10363477A>T	ENST00000377086.1	+	22	2317				KIF1B_ENST00000263934.6_Intron|KIF1B_ENST00000377081.1_Intron|KIF1B_ENST00000377083.1_Missense_Mutation_p.Y745F|KIF1B_ENST00000377093.4_Missense_Mutation_p.Y745F			O60333	KIF1B_HUMAN	kinesin family member 1B						anterograde axon cargo transport (GO:0008089)|apoptotic process (GO:0006915)|cytoskeleton-dependent intracellular transport (GO:0030705)|microtubule-based movement (GO:0007018)|mitochondrion transport along microtubule (GO:0047497)|neuromuscular synaptic transmission (GO:0007274)|neuron-neuron synaptic transmission (GO:0007270)|vesicle-mediated transport (GO:0016192)	cytoplasmic vesicle (GO:0031410)|cytoplasmic vesicle membrane (GO:0030659)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|kinesin binding (GO:0019894)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)	p.Y745F(1)		breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2)	71	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)		GAGATTTGCTATGAGGTTGCT	0.438																																						ENST00000377093.4																			1	Substitution - Missense(1)	p.Y745F(1)	prostate(1)	breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2)	71						c.(2233-2235)tAt>tTt		kinesin family member 1B							66	68	67					1																	10363477		2203	4300	6503	SO:0001627	intron_variant	23095				anterograde axon cargo transport|apoptosis|neuromuscular synaptic transmission|neuron-neuron synaptic transmission	cytoplasmic vesicle membrane|microtubule|microtubule associated complex|mitochondrion	ATP binding|ATPase activity|kinesin binding|microtubule motor activity|protein binding	g.chr1:10363477A>T	AF257176	CCDS111.1, CCDS112.1	1p36.22	2014-09-17			ENSG00000054523	ENSG00000054523		"Kinesins", "Pleckstrin homology (PH) domain containing"	16636	protein-coding gene	gene with protein product		605995		CMT2A, CMT2		11389829, 10762626	Standard	NM_015074		Approved	KIAA0591, KLP, HMSNII	uc001aqw.4	O60333	OTTHUMG00000001817	ENST00000377086.1:c.2115+6173A>T	1.37:g.10363477A>T						KIF1B_ENST00000377081.1_Intron|KIF1B_ENST00000263934.6_Intron|KIF1B_ENST00000377086.1_Intron|KIF1B_ENST00000377083.1_Missense_Mutation_p.Y745F	p.Y745F	NM_183416.3	NP_904325.2	O60333	KIF1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)	21	2387	+	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)	0					A6NFS8|A6NKQ4|Q4VXC3|Q4VXC4|Q4VXC5|Q4VXC6|Q96Q94|Q9BV80|Q9P280	Missense_Mutation	SNP	ENST00000377086.1	37	c.2234A>T		.	.	.	.	.	.	.	.	.	.	A	22.0	4.224504	0.79576	.	.	ENSG00000054523	ENST00000377093;ENST00000377083	T;T	0.73897	-0.79;-0.79	5.8	5.8	0.92144	.	.	.	.	.	D	0.86908	0.6046	.	.	.	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.88625	0.3165	8	0.87932	D	0	.	16.2141	0.82191	1.0:0.0:0.0:0.0	.	745	O60333-3	.	F	745	ENSP00000366297:Y745F;ENSP00000366287:Y745F	ENSP00000366287:Y745F	Y	+	2	0	KIF1B	10286064	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.206000	0.95056	2.225000	0.72522	0.529000	0.55759	TAT		0.438	KIF1B-001	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000005102.1			6	71	0	0	0	0.217242	0	6	71					T	10363477	A	T	10363477	1	4	177	0	1	0	0	0	0	0	0	0	8284	449	16	5		5	KIF1B	1	10363477	Intron	SNP	A	TCGA-G9-6385-01A-11D-1786-08		10363477	238887144	1	8325											
FLG2	388698	broad.mit.edu	37	chr1	152326999	152326999	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ttgacccatgttgaccatagCcagatgattgacttgagcca	11	11	9	10	0	0	6	0	5	0	1	0	6	0	6	4	0	2	1	4	0	1	5			TCGA-G9-6385-01A-11D-1786-08	TCGA-G9-6385-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe227d04-2285-41ff-b5b8-421a317a61c7	fc787cb2-b174-4f58-b4db-22eb3d987661	g.chr1:152326999C>T	ENST00000388718.5	-	3	3335	c.3263G>A	c.(3262-3264)gGc>gAc	p.G1088D	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	1088	Ser-rich.				establishment of skin barrier (GO:0061436)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)	p.G1088D(1)		NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TTGACCATAGCCAGATGATTG	0.498																																						ENST00000388718.5																			1	Substitution - Missense(1)	p.G1088D(1)	prostate(1)	NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188						c.(3262-3264)gGc>gAc		filaggrin family member 2							321	323	322					1																	152326999		2203	4300	6503	SO:0001583	missense	388698						calcium ion binding|structural molecule activity	g.chr1:152326999C>T	AY827490	CCDS30861.1	1q21.3	2013-01-10			ENSG00000143520	ENSG00000143520		"EF-hand domain containing"	33276	protein-coding gene	gene with protein product						12477932	Standard	NM_001014342		Approved	IFPS	uc001ezw.4	Q5D862	OTTHUMG00000012245	ENST00000388718.5:c.3263G>A	1.37:g.152326999C>T	ENSP00000373370:p.Gly1088Asp					FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	p.G1088D	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	3335	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1088			Ser-rich.		Q9H4U1	Missense_Mutation	SNP	ENST00000388718.5	37	c.3263G>A	CCDS30861.1	.	.	.	.	.	.	.	.	.	.	C	2.068	-0.413653	0.04799	.	.	ENSG00000143520	ENST00000388718	T	0.21031	2.03	3.6	0.479	0.16796	.	.	.	.	.	T	0.01870	0.0059	N	0.13098	0.295	0.09310	N	1	P	0.39480	0.675	B	0.26202	0.067	T	0.37865	-0.9687	9	0.11794	T	0.64	2.797	3.936	0.09305	0.0:0.5591:0.1998:0.2411	.	1088	Q5D862	FILA2_HUMAN	D	1088	ENSP00000373370:G1088D	ENSP00000373370:G1088D	G	-	2	0	FLG2	150593623	0.009000	0.17119	0.000000	0.03702	0.003000	0.03518	0.259000	0.18405	0.221000	0.20879	0.558000	0.71614	GGC		0.498	FLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034018.5	NM_001014342		11	381	0	0	0	0.38729	0	11	381					T	152326999	C	T	152326999	3	4	177	1	0	0	0	0	1	0	0	0	5923	739	26	3	3916	3	FLG2	1	152326999	Missense_Mutation	SNP	C	TCGA-G9-6385-01A-11D-1786-08	141963522	152326999	96923622	2	8326											
GPR37L1	9283	broad.mit.edu	37	chr1	202092707	202092707	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgacgtttcttgtcgtgccGtgcccttcatggaggtgagt	4	14	14	9	3	2	2	1	2	1	0	3	3	2	3	2	2	2	1	2	2	0	3			TCGA-G9-6385-01A-11D-1786-08	TCGA-G9-6385-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe227d04-2285-41ff-b5b8-421a317a61c7	fc787cb2-b174-4f58-b4db-22eb3d987661	g.chr1:202092707G>A	ENST00000367282.5	+	1	722	c.616G>A	c.(616-618)Gtg>Atg	p.V206M		NM_004767.3	NP_004758.3	O60883	ETBR2_HUMAN	G protein-coupled receptor 37 like 1	206					negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of smoothened signaling pathway (GO:0045879)|positive regulation of cerebellar granule cell precursor proliferation (GO:0021940)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	G-protein coupled receptor activity (GO:0004930)	p.V206M(1)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)	18						TTGTCGTGCCGTGCCCTTCAT	0.522																																						ENST00000367282.4																			1	Substitution - Missense(1)	p.V206M(1)	prostate(1)	central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)	18						c.(616-618)Gtg>Atg		G protein-coupled receptor 37 like 1							98	94	95					1																	202092707		2202	4297	6499	SO:0001583	missense	9283					integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding	g.chr1:202092707G>A	AJ310210	CCDS1420.1	1q32	2012-08-21	2006-02-15		ENSG00000170075	ENSG00000170075		"GPCR / Class A : Orphans"	14923	protein-coding gene	gene with protein product						9539149	Standard	NM_004767		Approved	ETBR-LP-2	uc001gxj.3	O60883	OTTHUMG00000035924	ENST00000367282.5:c.616G>A	1.37:g.202092707G>A	ENSP00000356251:p.Val206Met						p.V206M	NM_004767.3	NP_004758.3	O60883	ETBR2_HUMAN			1	722	+			206					B2R7M9|Q5SXP7|Q86VP7	Missense_Mutation	SNP	ENST00000367282.5	37	c.616G>A	CCDS1420.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.084656	0.76642	.	.	ENSG00000170075	ENST00000541334;ENST00000367282	T	0.38887	1.11	4.77	4.77	0.60923	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000001	T	0.64204	0.2577	M	0.69248	2.105	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.68432	-0.5410	10	0.66056	D	0.02	-25.5229	17.784	0.88532	0.0:0.0:1.0:0.0	.	206	O60883	ETBR2_HUMAN	M	73;206	ENSP00000356251:V206M	ENSP00000356251:V206M	V	+	1	0	GPR37L1	200359330	1.000000	0.71417	0.973000	0.42090	0.866000	0.49608	9.854000	0.99522	2.175000	0.68902	0.313000	0.20887	GTG		0.522	GPR37L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087496.2	NM_004767		6	150	0	0	0	0.217242	0	6	150					A	202092707	G	A	202092707	3	1	177	1	0	0	0	0	1	0	0	0	6692	1145	40	1	618	1	GPR37L1	1	202092707	Missense_Mutation	SNP	G	TCGA-G9-6385-01A-11D-1786-08	49765708	202092707	47157914	3	8327											
OBSCN	84033	broad.mit.edu	37	chr1	228481211	228481211	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agacacagcctgaggcaggaCggggccaggtgtgagctgca	10	4	17	10	1	0	3	0	2	0	1	0	4	0	4	2	5	3	3	2	5	0	0			TCGA-G9-6385-01A-11D-1786-08	TCGA-G9-6385-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe227d04-2285-41ff-b5b8-421a317a61c7	fc787cb2-b174-4f58-b4db-22eb3d987661	g.chr1:228481211C>T	ENST00000422127.1	+	41	11069	c.11025C>T	c.(11023-11025)gaC>gaT	p.D3675D	OBSCN_ENST00000366707.4_Silent_p.D794D|RP5-1139B12.4_ENST00000602778.1_RNA|OBSCN_ENST00000284548.11_Silent_p.D3675D|OBSCN_ENST00000359599.6_Silent_p.D2522D|OBSCN_ENST00000570156.2_Silent_p.D4104D|OBSCN_ENST00000366709.4_Silent_p.D794D	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	3675	Ig-like 37.				apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)	p.D3729D(1)|p.D3958D(1)		NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				TGAGGCAGGACGGGGCCAGGT	0.652																																						ENST00000570156.2																			2	Substitution - coding silent(2)	p.D3729D(1)|p.D3958D(1)	prostate(2)	NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223						c.(12310-12312)gaC>gaT		obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF							98	104	102					1																	228481211		2166	4259	6425	SO:0001819	synonymous_variant	84033				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	g.chr1:228481211C>T	AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"Rho guanine nucleotide exchange factors", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.11025C>T	1.37:g.228481211C>T						OBSCN_ENST00000284548.11_Silent_p.D3675D|OBSCN_ENST00000422127.1_Silent_p.D3675D|OBSCN_ENST00000366709.4_Silent_p.D794D|OBSCN_ENST00000366707.4_Silent_p.D794D|OBSCN_ENST00000359599.6_Silent_p.D2522D	p.D4104D	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN			46	12386	+		Prostate(94;0.0405)	3146			Ig-like 42.		Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Silent	SNP	ENST00000422127.1	37	c.12312C>T	CCDS58065.1																																																																																				0.652	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843		4	81	0	0	0	0.184627	0	4	81					T	228481211	C	T	228481211	2	4	177	1	0	0	0	0	0	0	0	1	10812	535	19	1		1	OBSCN	1	228481211	Silent	SNP	C	TCGA-G9-6385-01A-11D-1786-08	26388504	228481211	20769410	4	8328											
OR2G6	391211	broad.mit.edu	37	chr1	248685655	248685655	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcagctgcgggccgccaaaaGgcctttgggacctgttcgtc	6	9	13	13	3	1	0	1	0	0	0	3	1	1	1	4	3	2	2	4	3	2	2			TCGA-G9-6385-01A-11D-1786-08	TCGA-G9-6385-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe227d04-2285-41ff-b5b8-421a317a61c7	fc787cb2-b174-4f58-b4db-22eb3d987661	g.chr1:248685655G>C	ENST00000343414.4	+	1	740	c.708G>C	c.(706-708)aaG>aaC	p.K236N		NM_001013355.1	NP_001013373.1	Q5TZ20	OR2G6_HUMAN	olfactory receptor, family 2, subfamily G, member 6	236						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.K236N(1)		NS(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(40)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0156)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GCCGCCAAAAGGCCTTTGGGA	0.458																																						ENST00000343414.4																			1	Substitution - Missense(1)	p.K236N(1)	prostate(1)	NS(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(40)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						c.(706-708)aaG>aaC		olfactory receptor, family 2, subfamily G, member 6							105	108	107					1																	248685655		2203	4300	6503	SO:0001583	missense	391211				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248685655G>C		CCDS31119.1	1q44	2012-08-09			ENSG00000188558	ENSG00000188558		"GPCR / Class A : Olfactory receptors"	27019	protein-coding gene	gene with protein product							Standard	NM_001013355		Approved		uc001ien.1	Q5TZ20	OTTHUMG00000040462	ENST00000343414.4:c.708G>C	1.37:g.248685655G>C	ENSP00000341291:p.Lys236Asn						p.K236N	NM_001013355.1	NP_001013373.1	Q5TZ20	OR2G6_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	740	+	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0156)	236					B2RP33	Missense_Mutation	SNP	ENST00000343414.4	37	c.708G>C	CCDS31119.1	.	.	.	.	.	.	.	.	.	.	N	12.67	2.006204	0.35415	.	.	ENSG00000188558	ENST00000343414	T	0.00374	7.72	3.83	-3.1	0.05315	GPCR, rhodopsin-like superfamily (1);	0.000000	0.46442	U	0.000297	T	0.01320	0.0043	H	0.97732	4.065	0.25621	N	0.986393	D	0.89917	1.0	D	0.97110	1.0	T	0.04767	-1.0928	10	0.87932	D	0	.	10.5308	0.44975	0.6266:0.0:0.3734:0.0	.	236	Q5TZ20	OR2G6_HUMAN	N	236	ENSP00000341291:K236N	ENSP00000341291:K236N	K	+	3	2	OR2G6	246752278	0.489000	0.26004	0.063000	0.19743	0.393000	0.30537	-0.660000	0.05317	-0.671000	0.05274	0.400000	0.26472	AAG		0.458	OR2G6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097358.1	XM_372842		17	65	0	0	0	0.520397	0	17	65					C	248685655	G	C	248685655	3	2	177	1	0	0	0	0	1	0	0	0	11000	991	35	5	710	5	OR2G6	1	248685655	Missense_Mutation	SNP	G	TCGA-G9-6385-01A-11D-1786-08	20204444	248685655	564966	5	8329											
PRICKLE2	166336	broad.mit.edu	37	chr3	64084858	64084858	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctcatcgcttgtgacgtatcGcaggcgcgctggctggggga	5	9	16	11	5	1	1	1	1	0	0	3	2	1	2	0	4	0	5	0	4	1	2			TCGA-G9-6385-01A-11D-1786-08	TCGA-G9-6385-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe227d04-2285-41ff-b5b8-421a317a61c7	fc787cb2-b174-4f58-b4db-22eb3d987661	g.chr3:64084858G>A	ENST00000295902.6	-	8	2989	c.2404C>T	c.(2404-2406)Cga>Tga	p.R802*	PRICKLE2-AS1_ENST00000476308.1_RNA|PRICKLE2-AS1_ENST00000460946.1_RNA|RP11-129B22.1_ENST00000482609.1_RNA|PRICKLE2_ENST00000564377.1_Nonsense_Mutation_p.R858*	NM_198859.3	NP_942559.1	Q7Z3G6	PRIC2_HUMAN	prickle homolog 2 (Drosophila)	802					establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|neuron projection development (GO:0031175)	apicolateral plasma membrane (GO:0016327)|cytoplasm (GO:0005737)|lateral plasma membrane (GO:0016328)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)	p.R802*(1)		breast(2)|endometrium(1)|large_intestine(9)|liver(1)|lung(10)|ovary(4)|prostate(2)|skin(2)|stomach(1)	32		Lung NSC(201;0.136)		BRCA - Breast invasive adenocarcinoma(55;0.000971)|KIRC - Kidney renal clear cell carcinoma(15;0.00443)|Kidney(15;0.00497)		GTGACGTATCGCAGGCGCGCT	0.552																																						ENST00000295902.6																			1	Substitution - Nonsense(1)	p.R802*(1)	prostate(1)	breast(2)|endometrium(1)|large_intestine(9)|liver(1)|lung(10)|ovary(4)|prostate(2)|skin(2)|stomach(1)	32						c.(2404-2406)Cga>Tga		prickle homolog 2 (Drosophila)							88	86	87					3																	64084858		2203	4300	6503	SO:0001587	stop_gained	166336					cytoplasm|nuclear membrane	zinc ion binding	g.chr3:64084858G>A	AK127839	CCDS2902.1	3p14.3	2006-09-12	2006-09-12		ENSG00000163637	ENSG00000163637			20340	protein-coding gene	gene with protein product		608501	"prickle-like 2 (Drosophila)"			12525887	Standard	NM_198859		Approved	DKFZp686D143	uc003dmf.3	Q7Z3G6	OTTHUMG00000158789	ENST00000295902.6:c.2404C>T	3.37:g.64084858G>A	ENSP00000295902:p.Arg802*					RP11-129B22.1_ENST00000482609.1_RNA|PRICKLE2_ENST00000564377.1_Nonsense_Mutation_p.R858*	p.R802*	NM_198859.3	NP_942559.1	Q7Z3G6	PRIC2_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000971)|KIRC - Kidney renal clear cell carcinoma(15;0.00443)|Kidney(15;0.00497)	8	2989	-		Lung NSC(201;0.136)	802					Q0VF44	Nonsense_Mutation	SNP	ENST00000295902.6	37	c.2404C>T	CCDS2902.1	.	.	.	.	.	.	.	.	.	.	G	45	11.490453	0.99567	.	.	ENSG00000163637	ENST00000295902	.	.	.	5.63	5.63	0.86233	.	0.098510	0.42420	D	0.000717	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-13.2872	14.51	0.67780	0.0:0.0:0.8534:0.1466	.	.	.	.	X	802	.	ENSP00000295902:R802X	R	-	1	2	PRICKLE2	64059898	1.000000	0.71417	0.996000	0.52242	0.768000	0.43524	5.983000	0.70540	2.663000	0.90544	0.655000	0.94253	CGA		0.552	PRICKLE2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000352219.1	NM_198859		4	91	0	0	0	0.184627	0	4	91					A	64084858	G	A	64084858	4	1	177	1	0	0	0	0	0	1	0	0	12487	1095	38	1	134	1	PRICKLE2	3	64084858	Nonsense_Mutation	SNP	G	TCGA-G9-6385-01A-11D-1786-08		64084858	133937572	6	8330											
NR1I2	8856	broad.mit.edu	37	chr3	119531666	119531666	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctctgcagctgcggggggAggatggcagtgtctggaact	6	9	17	9	1	2	0	0	0	2	0	3	3	2	3	0	6	4	3	0	6	1	0			TCGA-G9-6385-01A-11D-1786-08	TCGA-G9-6385-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe227d04-2285-41ff-b5b8-421a317a61c7	fc787cb2-b174-4f58-b4db-22eb3d987661	g.chr3:119531666A>G	ENST00000337940.4	+	5	818	c.770A>G	c.(769-771)gAg>gGg	p.E257G	NR1I2_ENST00000466380.1_Missense_Mutation_p.E181G|NR1I2_ENST00000393716.2_Missense_Mutation_p.E218G	NM_022002.2	NP_071285.1	O75469	NR1I2_HUMAN	nuclear receptor subfamily 1, group I, member 2	218	Ligand-binding.				drug export (GO:0046618)|exogenous drug catabolic process (GO:0042738)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|signal transduction (GO:0007165)|steroid metabolic process (GO:0008202)|transcription initiation from RNA polymerase II promoter (GO:0006367)|xenobiotic metabolic process (GO:0006805)|xenobiotic transport (GO:0042908)	nucleoplasm (GO:0005654)	drug binding (GO:0008144)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|steroid hormone receptor activity (GO:0003707)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)	p.E257G(2)		breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(2)|prostate(2)|skin(3)	23				GBM - Glioblastoma multiforme(114;0.175)	Docetaxel(DB01248)|Erlotinib(DB00530)|Estradiol(DB00783)|Ethinyl Estradiol(DB00977)|Paclitaxel(DB01229)|Rifampicin(DB01045)|Rifaximin(DB01220)|Rilpivirine(DB08864)|Vitamin E(DB00163)	CTGCGGGGGGAGGATGGCAGT	0.582																																						ENST00000393716.2																			2	Substitution - Missense(2)	p.E257G(2)	prostate(2)	breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(2)|prostate(2)|skin(3)	23						c.(652-654)gAg>gGg		nuclear receptor subfamily 1, group I, member 2	Estradiol(DB00783)|Ethinyl Estradiol(DB00977)|Rifampin(DB01045)|Vitamin E(DB00163)						77	76	77					3																	119531666		2203	4300	6503	SO:0001583	missense	8856				drug export|exogenous drug catabolic process|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|steroid metabolic process|xenobiotic metabolic process|xenobiotic transport	nucleoplasm	drug binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription coactivator activity|zinc ion binding	g.chr3:119531666A>G	AF061056	CCDS2995.1, CCDS43136.1, CCDS54627.1	3q12-q13.3	2013-03-25			ENSG00000144852	ENSG00000144852		"Nuclear hormone receptors"	7968	protein-coding gene	gene with protein product	"pregnane X receptor", "orphan nuclear receptor PXR"	603065				9727070, 9770465	Standard	NM_003889		Approved	ONR1, PXR, BXR, SXR, PAR2	uc003edk.3	O75469	OTTHUMG00000159400	ENST00000337940.4:c.770A>G	3.37:g.119531666A>G	ENSP00000336528:p.Glu257Gly					NR1I2_ENST00000466380.1_Missense_Mutation_p.E181G|NR1I2_ENST00000337940.4_Missense_Mutation_p.E257G	p.E218G	NM_003889.3	NP_003880.3	O75469	NR1I2_HUMAN		GBM - Glioblastoma multiforme(114;0.175)	5	2492	+			218			Ligand-binding.		Q006P5|Q008C8|Q96AC7|Q9UJ22|Q9UJ23|Q9UJ24|Q9UJ25|Q9UJ26|Q9UJ27|Q9UNW4	Missense_Mutation	SNP	ENST00000337940.4	37	c.653A>G	CCDS2995.1	.	.	.	.	.	.	.	.	.	.	A	16.17	3.047255	0.55110	.	.	ENSG00000144852	ENST00000393716;ENST00000466380;ENST00000337940	D;D;D	0.96011	-3.88;-3.88;-3.88	4.27	4.27	0.50696	Nuclear hormone receptor, ligand-binding (1);	0.505078	0.16746	N	0.201231	D	0.96513	0.8862	M	0.61703	1.905	0.29368	N	0.864216	P;D;B	0.71674	0.871;0.998;0.077	B;D;B	0.77004	0.318;0.989;0.128	D	0.92340	0.5881	10	0.42905	T	0.14	.	9.7268	0.40337	1.0:0.0:0.0:0.0	.	218;257;204	O75469;F1D8P9;O75469-6	NR1I2_HUMAN;.;.	G	218;181;257	ENSP00000377319:E218G;ENSP00000420297:E181G;ENSP00000336528:E257G	ENSP00000336528:E257G	E	+	2	0	NR1I2	121014356	0.486000	0.25980	0.788000	0.31933	0.979000	0.70002	2.126000	0.42026	1.801000	0.52704	0.459000	0.35465	GAG		0.582	NR1I2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355126.1			3	88	0	0	0	0.150653	0	3	88					G	119531666	A	G	119531666	3	3	177	1	0	0	0	0	1	0	0	0	10620	304	11	4	788	4	NR1I2	3	119531666	Missense_Mutation	SNP	A	TCGA-G9-6385-01A-11D-1786-08	55446808	119531666	78490764	7	8331											
PCDHGB7	56099	broad.mit.edu	37	chr5	140798766	140798766	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcacattactgacgtcaatgAcaacgcgccggttttcggac	10	9	10	12	5	1	2	1	2	0	0	2	3	1	3	1	2	2	2	1	2	3	3			TCGA-G9-6385-01A-11D-1786-08	TCGA-G9-6385-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe227d04-2285-41ff-b5b8-421a317a61c7	fc787cb2-b174-4f58-b4db-22eb3d987661	g.chr5:140798766A>G	ENST00000398594.2	+	1	1340	c.1340A>G	c.(1339-1341)gAc>gGc	p.D447G	PCDHGA6_ENST00000517434.1_Intron|PCDHGA11_ENST00000518882.1_5'Flank|PCDHGA10_ENST00000398610.2_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA11_ENST00000398587.2_5'Flank|PCDHGB3_ENST00000576222.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron	NM_018927.3	NP_061750.1	Q9Y5F8	PCDGJ_HUMAN	protocadherin gamma subfamily B, 7	447	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.D447G(1)		central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(13)|lung(15)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(3)	56			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GACGTCAATGACAACGCGCCG	0.572																																						ENST00000398594.2																			1	Substitution - Missense(1)	p.D447G(1)	prostate(1)	central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(13)|lung(15)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(3)	56						c.(1339-1341)gAc>gGc									63	73	69					5																	140798766		2148	4239	6387	SO:0001583	missense	0							g.chr5:140798766A>G	AF152523	CCDS47293.1, CCDS75344.1	5q31	2010-01-26			ENSG00000254122	ENSG00000254122		"Cadherins / Protocadherins : Clustered"	8714	other	protocadherin	"cadherin ME6"	606304				10380929	Standard	NM_032101		Approved	ME6, PCDH-GAMMA-B7		Q9Y5F8	OTTHUMG00000164054	ENST00000398594.2:c.1340A>G	5.37:g.140798766A>G	ENSP00000381594:p.Asp447Gly					PCDHGA3_ENST00000253812.6_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA2_ENST00000394576.2_Intron	p.D447G	NM_018927.3	NP_061750.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1340	+								Q9UN63	Missense_Mutation	SNP	ENST00000398594.2	37	c.1340A>G	CCDS47293.1	.	.	.	.	.	.	.	.	.	.	a	14.91	2.675092	0.47781	.	.	ENSG00000254122	ENST00000398594	T	0.71698	-0.59	5.57	5.57	0.84162	Cadherin (4);Cadherin conserved site (1);Cadherin-like (1);	0.000000	0.34386	U	0.004006	D	0.91610	0.7349	H	0.99719	4.725	0.43347	D	0.995408	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.95334	0.8432	10	0.87932	D	0	.	15.7379	0.77859	1.0:0.0:0.0:0.0	.	447;447	Q9Y5F8;Q9Y5F8-2	PCDGJ_HUMAN;.	G	447	ENSP00000381594:D447G	ENSP00000381594:D447G	D	+	2	0	PCDHGB7	140778950	1.000000	0.71417	1.000000	0.80357	0.140000	0.21249	9.246000	0.95438	2.117000	0.64856	0.402000	0.26972	GAC		0.572	PCDHGB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376973.1	NM_018927		7	54	0	0	0	0.307466	0	7	54					G	140798766	A	G	140798766	3	3	177	1	0	0	0	0	1	0	0	0	11568	275	10	4	1342	4	PCDHGB7	5	140798766	Missense_Mutation	SNP	A	TCGA-G9-6385-01A-11D-1786-08		140798766	40116494	8	8332											
FAT2	2196	broad.mit.edu	37	chr5	150922324	150922324	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcctattgtcattgacgtcTcccacttggatgttgacaga	8	13	10	10	1	2	3	1	2	1	1	3	4	2	4	2	2	0	1	2	2	1	5	rs35581702		TCGA-G9-6385-01A-11D-1786-08	TCGA-G9-6385-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe227d04-2285-41ff-b5b8-421a317a61c7	fc787cb2-b174-4f58-b4db-22eb3d987661	g.chr5:150922324T>C	ENST00000261800.5	-	9	8376	c.8364A>G	c.(8362-8364)ggA>ggG	p.G2788G		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	2788	Cadherin 24. {ECO:0000255|PROSITE- ProRule:PRU00043}.				epithelial cell migration (GO:0010631)|homophilic cell adhesion (GO:0007156)	cell-cell adherens junction (GO:0005913)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CATTGACGTCTCCCACTTGGA	0.478																																						ENST00000261800.5																			0				NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196						c.(8362-8364)ggA>ggG		FAT atypical cadherin 2							179	164	169					5																	150922324		2203	4300	6503	SO:0001819	synonymous_variant	2196				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding	g.chr5:150922324T>C	AF231022	CCDS4317.1	5q33.1	2014-07-21	2013-05-31		ENSG00000086570	ENSG00000086570		"Cadherins / Cadherin-related"	3596	protein-coding gene	gene with protein product	"cadherin-related family member 9"	604269	"FAT tumor suppressor (Drosophila) homolog 2", "FAT tumor suppressor homolog 2 (Drosophila)"			9693030	Standard	NM_001447		Approved	MEGF1, CDHF8, HFAT2, CDHR9	uc003lue.4	Q9NYQ8	OTTHUMG00000130126	ENST00000261800.5:c.8364A>G	5.37:g.150922324T>C							p.G2788G	NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		9	8376	-		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	2788			Cadherin 24.		O75091|Q9NSR7	Silent	SNP	ENST00000261800.5	37	c.8364A>G	CCDS4317.1																																																																																				0.478	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252434.1	NM_001447		3	181	0	0	0	0.115264	0	3	181					C	150922324	T	C	150922324	2	2	177	1	0	0	0	0	0	0	0	1	5690	1538	54	4		4	FAT2	5	150922324	Silent	SNP	T	TCGA-G9-6385-01A-11D-1786-08	10123558	150922324	29992936	9	8333											
HIST1H2BK	85236	broad.mit.edu	37	chr6	27114573	27114573	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gagcggacttcgctggttccGgcatgttgaaggcgaactac	8	9	14	10	4	0	1	0	1	0	0	2	4	1	2	1	4	3	4	1	4	3	4			TCGA-G9-6385-01A-11D-1786-08	TCGA-G9-6385-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe227d04-2285-41ff-b5b8-421a317a61c7	fc787cb2-b174-4f58-b4db-22eb3d987661	g.chr6:27114573G>A	ENST00000356950.1	-	1	4	c.5C>T	c.(4-6)cCg>cTg	p.P2L	HIST1H2BK_ENST00000396891.4_Missense_Mutation_p.P2L|HIST1H2AH_ENST00000377459.1_5'Flank|MIR3143_ENST00000584253.1_RNA			O60814	H2B1K_HUMAN	histone cluster 1, H2bk	2					antibacterial humoral response (GO:0019731)|chromatin organization (GO:0006325)|defense response to Gram-positive bacterium (GO:0050830)|innate immune response in mucosa (GO:0002227)	extracellular space (GO:0005615)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.P2L(2)		breast(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	13						CGCTGGTTCCGGCATGTTGAA	0.567																																						ENST00000396891.4																			2	Substitution - Missense(2)	p.P2L(2)	prostate(2)	breast(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	13						c.(4-6)cCg>cTg		histone cluster 1, H2bk							48	48	48					6																	27114573		2203	4300	6503	SO:0001583	missense	85236				defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr6:27114573G>A	AJ223352	CCDS4621.1	6p22.1	2011-01-27	2006-10-11	2003-02-28	ENSG00000197903	ENSG00000197903		"Histones / Replication-dependent"	13954	protein-coding gene	gene with protein product		615045	"H2B histone family, member T", "histone 1, H2bk"	H2BFT		12408966	Standard	NM_080593		Approved	H2BFAiii	uc003nix.2	O60814	OTTHUMG00000014473	ENST00000356950.1:c.5C>T	6.37:g.27114573G>A	ENSP00000349430:p.Pro2Leu					HIST1H2BK_ENST00000356950.1_Missense_Mutation_p.P2L	p.P2L	NM_080593.2	NP_542160.1	O60814	H2B1K_HUMAN			1	46	-			2					A8K7P7|Q2VPI7	Missense_Mutation	SNP	ENST00000356950.1	37	c.5C>T	CCDS4621.1	.	.	.	.	.	.	.	.	.	.	G	12.99	2.102254	0.37145	.	.	ENSG00000197903	ENST00000396891;ENST00000356950	T;T	0.19532	2.14;2.14	4.05	2.15	0.27550	.	.	.	.	.	T	0.16385	0.0394	M	0.89287	3.02	0.47441	D	0.999429	B	0.26120	0.142	B	0.09377	0.004	T	0.10382	-1.0632	9	0.87932	D	0	.	12.1349	0.53966	0.0:0.3325:0.6675:0.0	.	2	O60814	H2B1K_HUMAN	L	2	ENSP00000380100:P2L;ENSP00000349430:P2L	ENSP00000349430:P2L	P	-	2	0	HIST1H2BK	27222552	1.000000	0.71417	0.583000	0.28640	0.075000	0.17131	5.385000	0.66231	0.399000	0.25367	0.650000	0.86243	CCG		0.567	HIST1H2BK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040141.1	NM_080593		3	76	0	0	0	0.115264	0	3	76					A	27114573	G	A	27114573	3	1	177	1	0	0	0	0	1	0	0	0	7150	1116	39	2	379	2	HIST1H2BK	6	27114573	Missense_Mutation	SNP	G	TCGA-G9-6385-01A-11D-1786-08		27114573	144000494	10	8334											
NOTCH4	4855	broad.mit.edu	37	chr6	32163814	32163814	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttacgttggtgagcgacgtcCgccggcgctagcccagcctg	5	8	14	14	6	0	1	0	1	0	0	1	2	1	1	4	2	4	2	4	2	2	3			TCGA-G9-6385-01A-11D-1786-08	TCGA-G9-6385-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe227d04-2285-41ff-b5b8-421a317a61c7	fc787cb2-b174-4f58-b4db-22eb3d987661	g.chr6:32163814C>T	ENST00000375023.3	-	30	5550	c.5412G>A	c.(5410-5412)gcG>gcA	p.A1804A	NOTCH4_ENST00000443903.2_Missense_Mutation_p.G181R|GPSM3_ENST00000375043.3_5'Flank	NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4	1804					cell differentiation (GO:0030154)|cell fate determination (GO:0001709)|embryo development (GO:0009790)|endothelial cell morphogenesis (GO:0001886)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|mammary gland development (GO:0030879)|morphogenesis of a branching structure (GO:0001763)|negative regulation of cell differentiation (GO:0045596)|negative regulation of endothelial cell differentiation (GO:0045602)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|patterning of blood vessels (GO:0001569)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|protein heterodimerization activity (GO:0046982)|receptor activity (GO:0004872)	p.A1804A(1)		NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						GAGCGACGTCCGCCGGCGCTA	0.701																																						ENST00000443903.2																			1	Substitution - coding silent(1)	p.A1804A(1)	prostate(1)	NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						c.(541-543)Gga>Aga		notch 4							8	10	10					6																	32163814		1396	2628	4024	SO:0001819	synonymous_variant	4855				cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity	g.chr6:32163814C>T		CCDS34420.1	6p21.3	2013-01-10	2010-06-24		ENSG00000204301	ENSG00000204301		"Ankyrin repeat domain containing"	7884	protein-coding gene	gene with protein product		164951	"Notch (Drosophila) homolog 4", "Notch homolog 4 (Drosophila)"	INT3		7835890	Standard	NM_004557		Approved		uc003obb.3	Q99466	OTTHUMG00000031044	ENST00000375023.3:c.5412G>A	6.37:g.32163814C>T						NOTCH4_ENST00000375023.3_Silent_p.A1804A	p.G181R			Q99466	NOTC4_HUMAN			3	541	-			1180			EGF-like 4.		B0V183|B0V1X5|O00306|Q5SSY7|Q99458|Q99940|Q9H3S8|Q9UII9|Q9UIJ0	Missense_Mutation	SNP	ENST00000375023.3	37	c.541G>A	CCDS34420.1	.	.	.	.	.	.	.	.	.	.	C	10.60	1.395074	0.25205	.	.	ENSG00000204301	ENST00000443903	T	0.72615	-0.67	4.71	-7.09	0.01553	.	.	.	.	.	T	0.23572	0.0570	.	.	.	0.18873	N	0.999982	B	0.13145	0.007	B	0.08055	0.003	T	0.11891	-1.0569	8	0.18276	T	0.48	.	8.4362	0.32789	0.0:0.2422:0.1972:0.5606	.	181	B4DFM3	.	R	181	ENSP00000398123:G181R	ENSP00000398123:G181R	G	-	1	0	NOTCH4	32271792	0.000000	0.05858	0.000000	0.03702	0.040000	0.13550	-2.612000	0.00884	-1.610000	0.01583	-0.251000	0.11542	GGA		0.701	NOTCH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076045.2			3	11	0	0	0	0.115264	0	3	11					T	32163814	C	T	32163814	2	4	177	1	0	0	0	0	0	0	0	1	10551	639	23	2		2	NOTCH4	6	32163814	Silent	SNP	C	TCGA-G9-6385-01A-11D-1786-08	5049241	32163814	138951253	11	8335											
TTBK1	84630	broad.mit.edu	37	chr6	43251485	43251485	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgccctgtctggggcccccCgggaaaccccctcagagatg	6	6	12	17	1	2	1	1	0	1	1	2	3	2	2	6	3	2	0	6	3	1	0	rs201098083	byFrequency	TCGA-G9-6385-01A-11D-1786-08	TCGA-G9-6385-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe227d04-2285-41ff-b5b8-421a317a61c7	fc787cb2-b174-4f58-b4db-22eb3d987661	g.chr6:43251485C>G	ENST00000259750.4	+	14	3090	c.3007C>G	c.(3007-3009)Cgg>Ggg	p.R1003G		NM_032538.1	NP_115927.1	Q5TCY1	TTBK1_HUMAN	tau tubulin kinase 1	1003					substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.R1003G(1)		breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(10)|liver(1)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399)			TGGGGCCCCCCGGGAAACCCC	0.697																																						ENST00000259750.4																			1	Substitution - Missense(1)	p.R1003G(1)	prostate(1)	breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(10)|liver(1)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	53						c.(3007-3009)Cgg>Ggg		tau tubulin kinase 1							17	22	21					6																	43251485		2181	4269	6450	SO:0001583	missense	84630					cell junction|cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr6:43251485C>G	AB058758	CCDS34455.1	6p21.1	2008-02-05			ENSG00000146216	ENSG00000146216			19140	protein-coding gene	gene with protein product						11347906	Standard	XM_006715229		Approved	KIAA1855	uc003ouq.1	Q5TCY1	OTTHUMG00000014725	ENST00000259750.4:c.3007C>G	6.37:g.43251485C>G	ENSP00000259750:p.Arg1003Gly						p.R1003G	NM_032538.1	NP_115927.1	Q5TCY1	TTBK1_HUMAN	Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399)		14	3090	+			1003					A2A2U5|Q2L6C6|Q6ZNH0|Q8N444|Q96JH2	Missense_Mutation	SNP	ENST00000259750.4	37	c.3007C>G	CCDS34455.1	.	.	.	.	.	.	.	.	.	.	C	0.001	-2.946762	0.00051	.	.	ENSG00000146216	ENST00000259750	T	0.49432	0.78	5.25	-1.5	0.08691	.	2.102200	0.01961	N	0.043321	T	0.05456	0.0144	N	0.01352	-0.895	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.07809	-1.0753	10	0.30854	T	0.27	.	2.6526	0.05003	0.3558:0.1092:0.4249:0.1101	.	1003	Q5TCY1	TTBK1_HUMAN	G	1003	ENSP00000259750:R1003G	ENSP00000259750:R1003G	R	+	1	2	TTBK1	43359463	0.000000	0.05858	0.000000	0.03702	0.020000	0.10135	-0.134000	0.10436	-0.722000	0.04922	-1.277000	0.01392	CGG		0.697	TTBK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040584.3			3	39	0	0	0	0.150653	0	3	39					G	43251485	C	G	43251485	3	3	177	1	0	0	0	0	1	0	0	0	16673	643	23	5	3057	5	TTBK1	6	43251485	Missense_Mutation	SNP	C	TCGA-G9-6385-01A-11D-1786-08	11087671	43251485	127863582	12	8336											
ZNF292	23036	broad.mit.edu	37	chr6	87943091	87943091	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	catcttgttggatatgagaaTtaaacatctaatcaaaacaa	18	12	5	6	0	3	1	1	1	2	1	3	3	3	2	0	1	2	1	0	1	8	5			TCGA-G9-6385-01A-11D-1786-08	TCGA-G9-6385-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe227d04-2285-41ff-b5b8-421a317a61c7	fc787cb2-b174-4f58-b4db-22eb3d987661	g.chr6:87943091T>A	ENST00000369577.3	+	5	630	c.587T>A	c.(586-588)aTt>aAt	p.I196N	ZNF292_ENST00000339907.4_Missense_Mutation_p.I191N	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN	zinc finger protein 292	196						nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)	p.I196N(1)|p.I51N(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		GATATGAGAATTAAACATCTA	0.313																																						ENST00000369577.3																			2	Substitution - Missense(2)	p.I196N(1)|p.I51N(1)	prostate(2)	NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89						c.(586-588)aTt>aAt		zinc finger protein 292							86	82	83					6																	87943091		1827	4077	5904	SO:0001583	missense	23036				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:87943091T>A	AB011102	CCDS47457.1	6q15	2008-10-23			ENSG00000188994	ENSG00000188994		"Zinc fingers, C2H2-type"	18410	protein-coding gene	gene with protein product						9628581	Standard	NM_015021		Approved	KIAA0530, ZFP292, bA393I2.3, Zn-15, Zn-16	uc003plm.4	O60281	OTTHUMG00000015164	ENST00000369577.3:c.587T>A	6.37:g.87943091T>A	ENSP00000358590:p.Ile196Asn					ZNF292_ENST00000339907.4_Missense_Mutation_p.I191N	p.I196N	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0199)	5	630	+		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)	196					Q5W0B2|Q7Z3L7|Q9H8G3|Q9H8J4	Missense_Mutation	SNP	ENST00000369577.3	37	c.587T>A	CCDS47457.1	.	.	.	.	.	.	.	.	.	.	T	22.2	4.254450	0.80135	.	.	ENSG00000188994	ENST00000369577;ENST00000339907	T;T	0.12039	2.72;2.74	5.36	5.36	0.76844	.	0.048603	0.85682	D	0.000000	T	0.27524	0.0676	M	0.65498	2.005	0.44515	D	0.997467	D	0.89917	1.0	D	0.80764	0.994	T	0.02698	-1.1122	10	0.87932	D	0	.	15.658	0.77158	0.0:0.0:0.0:1.0	.	196	O60281	ZN292_HUMAN	N	196;191	ENSP00000358590:I196N;ENSP00000342847:I191N	ENSP00000342847:I191N	I	+	2	0	ZNF292	87999810	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	7.183000	0.77697	2.158000	0.67659	0.460000	0.39030	ATT		0.313	ZNF292-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000376192.2	NM_015021		3	69	0	0	0	0.115264	0	3	69					A	87943091	T	A	87943091	3	1	177	1	0	0	0	0	1	0	0	0	17823	1493	52	5	605	5	ZNF292	6	87943091	Missense_Mutation	SNP	T	TCGA-G9-6385-01A-11D-1786-08	44691606	87943091	83171976	13	8337											
SMU1	55234	broad.mit.edu	37	chr9	33056918	33056918	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gtgacacccttactgtgtgcCctctcaaatctccttaaaca	10	12	5	14	0	2	1	1	1	2	0	4	1	2	1	3	0	3	0	3	0	4	2			TCGA-G9-6385-01A-11D-1786-08	TCGA-G9-6385-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe227d04-2285-41ff-b5b8-421a317a61c7	fc787cb2-b174-4f58-b4db-22eb3d987661	g.chr9:33056918C>T	ENST00000397149.3	-	8	962	c.912G>A	c.(910-912)agG>agA	p.R304R	SMU1_ENST00000536631.1_Silent_p.R143R	NM_018225.2	NP_060695.2	Q2TAY7	SMU1_HUMAN	smu-1 suppressor of mec-8 and unc-52 homolog (C. elegans)	304						cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.R304R(1)		endometrium(2)|lung(4)|ovary(2)|prostate(1)	9			LUSC - Lung squamous cell carcinoma(29;0.0227)	GBM - Glioblastoma multiforme(74;0.11)		TACTGTGTGCCCTCTCAAATC	0.353																																						ENST00000397149.3																			1	Substitution - coding silent(1)	p.R304R(1)	prostate(1)	endometrium(2)|lung(4)|ovary(2)|prostate(1)	9						c.(910-912)agG>agA		smu-1 suppressor of mec-8 and unc-52 homolog (C. elegans)							128	129	129					9																	33056918		2203	4300	6503	SO:0001819	synonymous_variant	55234					cytoplasm|nucleus		g.chr9:33056918C>T	AK001667	CCDS6534.1	9p12	2013-01-10			ENSG00000122692	ENSG00000122692		"WD repeat domain containing"	18247	protein-coding gene	gene with protein product	"functional spliceosome-associated protein 57"					11438655, 11410362	Standard	NM_018225		Approved	SMU-1, FLJ10805, BWD, fSAP57	uc003zsf.1	Q2TAY7	OTTHUMG00000019757	ENST00000397149.3:c.912G>A	9.37:g.33056918C>T						SMU1_ENST00000536631.1_Silent_p.R143R	p.R304R	NM_018225.2	NP_060695.2	Q2TAY7	SMU1_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0227)	GBM - Glioblastoma multiforme(74;0.11)	8	962	-			304					B4E3L0|Q9BU59|Q9HA96|Q9NVD1	Silent	SNP	ENST00000397149.3	37	c.912G>A	CCDS6534.1																																																																																				0.353	SMU1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052022.1	NM_018225		12	174	0	0	0	0.457914	0	12	174					T	33056918	C	T	33056918	2	4	177	1	0	0	0	0	0	0	0	1	14817	622	22	3		3	SMU1	9	33056918	Silent	SNP	C	TCGA-G9-6385-01A-11D-1786-08		33056918	108156513	14	8338											
APBB1	322	broad.mit.edu	37	chr11	6432291	6432291	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctcctggctggcctcctccGccaaggtcaaggtcacattg	6	9	11	15	1	2	0	2	0	0	0	5	0	5	0	5	4	0	2	5	4	2	1	rs138898127	byFrequency	TCGA-G9-6385-01A-11D-1786-08	TCGA-G9-6385-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe227d04-2285-41ff-b5b8-421a317a61c7	fc787cb2-b174-4f58-b4db-22eb3d987661	g.chr11:6432291G>A	ENST00000609360.1	-	2	386	c.287C>T	c.(286-288)gCg>gTg	p.A96V	APBB1_ENST00000299402.6_Missense_Mutation_p.A96V|APBB1_ENST00000311051.3_Missense_Mutation_p.A96V|APBB1_ENST00000389906.2_Missense_Mutation_p.A96V	NM_001164.3	NP_001155.1	O00213	APBB1_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 1 (Fe65)	96					apoptotic process (GO:0006915)|axonogenesis (GO:0007409)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|histone H4 acetylation (GO:0043967)|negative regulation of cell growth (GO:0030308)|negative regulation of thymidylate synthase biosynthetic process (GO:0050760)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|synapse (GO:0045202)	beta-amyloid binding (GO:0001540)|chromatin binding (GO:0003682)|histone binding (GO:0042393)|proline-rich region binding (GO:0070064)|transcription factor binding (GO:0008134)	p.A96V(1)		breast(4)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|prostate(2)|skin(1)|urinary_tract(1)	24		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;6.49e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194)		GGCCTCCTCCGCCAAGGTCAA	0.632																																					GBM(147;1810 2556 5672 39622)	ENST00000389906.2																			1	Substitution - Missense(1)	p.A96V(1)	prostate(1)	breast(4)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|prostate(2)|skin(1)|urinary_tract(1)	24						c.(286-288)gCg>gTg		amyloid beta (A4) precursor protein-binding, family B, member 1 (Fe65)		G	VAL/ALA,VAL/ALA	3,4399	6.2+/-15.9	0,3,2198	144	160	155		287,287	3.3	0.7	11	dbSNP_134	155	1,8591	1.2+/-3.3	0,1,4295	yes	missense,missense	APBB1	NM_001164.2,NM_145689.1	64,64	0,4,6493	AA,AG,GG		0.0116,0.0682,0.0308	possibly-damaging,possibly-damaging	96/711,96/709	6432291	4,12990	2201	4296	6497	SO:0001583	missense	322				apoptosis|axonogenesis|cell cycle arrest|histone H4 acetylation|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of thymidylate synthase biosynthetic process|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|response to DNA damage stimulus|signal transduction|transcription, DNA-dependent	cytoplasm|growth cone|lamellipodium|nucleus|plasma membrane|synapse	beta-amyloid binding|chromatin binding|histone binding|proline-rich region binding|transcription factor binding	g.chr11:6432291G>A	L77864	CCDS31410.1, CCDS58114.1, CCDS66015.1, CCDS66016.1, CCDS66017.1, CCDS66018.1	11p15	2008-02-01				ENSG00000166313			581	protein-coding gene	gene with protein product		602709		RIR		8955346, 8894693	Standard	NM_001164		Approved	Fe65	uc001mcy.1	O00213		ENST00000609360.1:c.287C>T	11.37:g.6432291G>A	ENSP00000477213:p.Ala96Val					APBB1_ENST00000311051.3_Missense_Mutation_p.A96V|APBB1_ENST00000299402.6_Missense_Mutation_p.A96V|APBB1_ENST00000533407.1_Intron	p.A96V	NM_001257325.1	NP_001244254.1	O00213	APBB1_HUMAN		Epithelial(150;6.49e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194)	2	386	-		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)	96					A1E379|A6NH82|A6NL69|B7Z1J5|B7Z1J6|B7Z2Y0|D3DQT2|Q7Z324|Q96A93|V9GYK0|V9GYT4	Missense_Mutation	SNP	ENST00000609360.1	37	c.287C>T		.	.	.	.	.	.	.	.	.	.	G	10.08	1.252995	0.22965	6.82E-4	1.16E-4	ENSG00000166313	ENST00000299402;ENST00000311051;ENST00000389906	T;T;T	0.14391	2.51;2.51;2.51	4.21	3.26	0.37387	.	0.343920	0.23162	N	0.051239	T	0.13970	0.0338	N	0.14661	0.345	0.20873	N	0.99984	D	0.69078	0.997	P	0.57502	0.822	T	0.13098	-1.0522	10	0.27785	T	0.31	-10.4606	10.5629	0.45156	0.1059:0.0:0.8941:0.0	.	96	O00213-2	.	V	96	ENSP00000299402:A96V;ENSP00000311912:A96V;ENSP00000374556:A96V	ENSP00000299402:A96V	A	-	2	0	APBB1	6388867	0.971000	0.33674	0.725000	0.30721	0.631000	0.37964	1.785000	0.38684	2.074000	0.62210	0.393000	0.25936	GCG		0.632	APBB1-023	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000471831.1	NM_001164		10	308	0	0	0	0.38729	0	10	308					A	6432291	G	A	6432291	3	1	177	1	0	0	0	0	1	0	0	0	759	1087	38	1	1897	1	APBB1	11	6432291	Missense_Mutation	SNP	G	TCGA-G9-6385-01A-11D-1786-08		6432291	128574225	15	8339											
ATP5B	506	broad.mit.edu	37	chr12	57032140	57032140	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcttcagccagcttatcagcTtttgccacagcttcttcaat	8	15	5	13	0	5	0	3	0	2	0	5	0	5	0	2	0	5	3	2	0	2	6			TCGA-G9-6385-01A-11D-1786-08	TCGA-G9-6385-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe227d04-2285-41ff-b5b8-421a317a61c7	fc787cb2-b174-4f58-b4db-22eb3d987661	g.chr12:57032140T>C	ENST00000262030.3	-	10	1607	c.1557A>G	c.(1555-1557)aaA>aaG	p.K519K	BAZ2A_ENST00000379441.3_5'Flank|ATP5B_ENST00000552919.1_Silent_p.K508K|BAZ2A_ENST00000179765.5_5'Flank|ATP5B_ENST00000550162.1_5'Flank|BAZ2A_ENST00000551812.1_5'Flank	NM_001686.3	NP_001677.2	P06576	ATPB_HUMAN	ATP synthase, H+ transporting, mitochondrial F1 complex, beta polypeptide	519					angiogenesis (GO:0001525)|ATP biosynthetic process (GO:0006754)|ATP catabolic process (GO:0006200)|ATP hydrolysis coupled proton transport (GO:0015991)|cellular metabolic process (GO:0044237)|generation of precursor metabolites and energy (GO:0006091)|lipid metabolic process (GO:0006629)|mitochondrial ATP synthesis coupled proton transport (GO:0042776)|negative regulation of cell adhesion involved in substrate-bound cell migration (GO:0006933)|osteoblast differentiation (GO:0001649)|proton transport (GO:0015992)|regulation of intracellular pH (GO:0051453)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrial nucleoid (GO:0042645)|mitochondrial proton-transporting ATP synthase complex (GO:0005753)|mitochondrial proton-transporting ATP synthase, catalytic core (GO:0005754)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|MHC class I protein binding (GO:0042288)|proton-transporting ATP synthase activity, rotational mechanism (GO:0046933)|proton-transporting ATPase activity, rotational mechanism (GO:0046961)|transmembrane transporter activity (GO:0022857)|transporter activity (GO:0005215)			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						GCTTATCAGCTTTTGCCACAG	0.448																																						ENST00000262030.3																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(1555-1557)aaA>aaG		ATP synthase, H+ transporting, mitochondrial F1 complex, beta polypeptide							183	172	176					12																	57032140		2203	4300	6503	SO:0001819	synonymous_variant	506				angiogenesis|ATP hydrolysis coupled proton transport|regulation of intracellular pH|respiratory electron transport chain	cell surface|mitochondrial nucleoid|mitochondrial proton-transporting ATP synthase, catalytic core|plasma membrane	ATP binding|eukaryotic cell surface binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|hydrogen-exporting ATPase activity, phosphorylative mechanism|MHC class I protein binding|proton-transporting ATPase activity, rotational mechanism	g.chr12:57032140T>C	M27132	CCDS8924.1	12p13.3	2012-10-12			ENSG00000110955	ENSG00000110955	3.6.3.14	"Mitochondrial respiratory chain complex / Complex V", "ATPases / F-type"	830	protein-coding gene	gene with protein product		102910		ATPSB		2687158	Standard	NM_001686		Approved		uc001slr.3	P06576	OTTHUMG00000170291	ENST00000262030.3:c.1557A>G	12.37:g.57032140T>C						ATP5B_ENST00000552919.1_Silent_p.K508K	p.K519K	NM_001686.3	NP_001677.2	P06576	ATPB_HUMAN			10	1607	-			519					A8K4X0|Q14283	Silent	SNP	ENST00000262030.3	37	c.1557A>G	CCDS8924.1																																																																																				0.448	ATP5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408380.1	NM_001686		3	215	0	0	0	0.150653	0	3	215					C	57032140	T	C	57032140	2	2	177	1	0	0	0	0	0	0	0	1	1148	1606	56	4		4	ATP5B	12	57032140	Silent	SNP	T	TCGA-G9-6385-01A-11D-1786-08		57032140	76819755	16	8340											
CTDSP2	10106	broad.mit.edu	37	chr12	58223322	58223322	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gggcgcgaaaacagcagaaaAgggccttgaagatgttacgt	14	6	14	7	3	0	3	0	1	0	2	0	4	0	3	1	2	3	2	1	2	6	2			TCGA-G9-6385-01A-11D-1786-08	TCGA-G9-6385-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe227d04-2285-41ff-b5b8-421a317a61c7	fc787cb2-b174-4f58-b4db-22eb3d987661	g.chr12:58223322A>G	ENST00000398073.2	-	2	425	c.122T>C	c.(121-123)cTt>cCt	p.L41P	CTDSP2_ENST00000548823.1_Intron|CTDSP2_ENST00000547701.1_5'UTR	NM_005730.3	NP_005721.3	O14595	CTDS2_HUMAN	CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) small phosphatase 2	41					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|protein dephosphorylation (GO:0006470)	nucleoplasm (GO:0005654)	CTD phosphatase activity (GO:0008420)|metal ion binding (GO:0046872)	p.L41P(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|lung(1)|prostate(2)	7	all_neural(12;0.00559)|Glioma(12;0.0143)|Melanoma(17;0.122)					ACAGCAGAAAAGGGCCTTGAA	0.532																																						ENST00000398073.2																			1	Substitution - Missense(1)	p.L41P(1)	prostate(1)	breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|lung(1)|prostate(2)	7						c.(121-123)cTt>cCt		CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) small phosphatase 2							134	133	134					12																	58223322		2009	4168	6177	SO:0001583	missense	10106				protein dephosphorylation	nucleus|soluble fraction	CTD phosphatase activity|metal ion binding	g.chr12:58223322A>G	AF000152	CCDS41801.1	12q14.1	2012-06-14			ENSG00000175215	ENSG00000175215		"Serine/threonine phosphatases / CTD aspartate-based phosphatases"	17077	protein-coding gene	gene with protein product	"conserved gene amplified in osteosarcoma", "nuclear LIM interactor-interacting factor 2", "NLI-interacting factor 2", "small CTD phosphatase 2"	608711				9315096, 12721286	Standard	XM_005268556		Approved	OS4, SCP2, PSR2	uc001sqm.3	O14595	OTTHUMG00000170483	ENST00000398073.2:c.122T>C	12.37:g.58223322A>G	ENSP00000381148:p.Leu41Pro					CTDSP2_ENST00000548823.1_Intron|CTDSP2_ENST00000547701.1_5'UTR	p.L41P	NM_005730.3	NP_005721.3	O14595	CTDS2_HUMAN			2	425	-	all_neural(12;0.00559)|Glioma(12;0.0143)|Melanoma(17;0.122)		41					A8K5H4|Q53ZR2|Q6NZY3|Q9UEX1	Missense_Mutation	SNP	ENST00000398073.2	37	c.122T>C	CCDS41801.1	.	.	.	.	.	.	.	.	.	.	A	21.6	4.166903	0.78339	.	.	ENSG00000175215	ENST00000398073	T	0.24151	1.87	4.68	4.68	0.58851	.	0.123947	0.56097	D	0.000035	T	0.50820	0.1638	M	0.78456	2.415	0.80722	D	1	D	0.76494	0.999	D	0.73380	0.98	T	0.56709	-0.7934	10	0.87932	D	0	-4.8205	13.5101	0.61506	1.0:0.0:0.0:0.0	.	41	O14595	CTDS2_HUMAN	P	41	ENSP00000381148:L41P	ENSP00000381148:L41P	L	-	2	0	CTDSP2	56509589	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.124000	0.71620	2.094000	0.63399	0.533000	0.62120	CTT		0.532	CTDSP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409353.1	NM_005730		3	123	0	0	0	0.115264	0	3	123					G	58223322	A	G	58223322	3	3	177	1	0	0	0	0	1	0	0	0	4004	72	3	4	721	4	CTDSP2	12	58223322	Missense_Mutation	SNP	A	TCGA-G9-6385-01A-11D-1786-08	1191182	58223322	75628573	17	8341											
LGR5	8549	broad.mit.edu	37	chr12	71977709	71977709	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tggggttggttgccatgtcaTtggttttttgtccatttttg	3	21	12	5	0	1	0	1	0	0	0	2	0	2	0	2	4	1	3	2	4	0	8	rs372546802		TCGA-G9-6385-01A-11D-1786-08	TCGA-G9-6385-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe227d04-2285-41ff-b5b8-421a317a61c7	fc787cb2-b174-4f58-b4db-22eb3d987661	g.chr12:71977709T>C	ENST00000266674.5	+	18	2230	c.1919T>C	c.(1918-1920)aTt>aCt	p.I640T	LGR5_ENST00000540815.2_Missense_Mutation_p.I616T|RP11-186F10.2_ENST00000546601.1_RNA|LGR5_ENST00000536515.1_Missense_Mutation_p.I568T			O75473	LGR5_HUMAN	leucine-rich repeat containing G protein-coupled receptor 5	640					G-protein coupled receptor signaling pathway (GO:0007186)|inner ear development (GO:0048839)|positive regulation of canonical Wnt signaling pathway (GO:0090263)	integral component of plasma membrane (GO:0005887)|trans-Golgi network membrane (GO:0032588)	G-protein coupled receptor activity (GO:0004930)|transmembrane signaling receptor activity (GO:0004888)	p.I640T(1)	NUP107/LGR5(2)	endometrium(2)|kidney(3)|large_intestine(2)|lung(24)|ovary(1)|pancreas(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	48						TGCCATGTCATTGGTTTTTTG	0.493																																						ENST00000266674.5																		NUP107/LGR5(2)	1	Substitution - Missense(1)	p.I640T(1)	prostate(1)	endometrium(2)|kidney(3)|large_intestine(2)|lung(24)|ovary(1)|pancreas(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	48						c.(1918-1920)aTt>aCt		leucine-rich repeat containing G protein-coupled receptor 5		T	THR/ILE	1,4405	2.1+/-5.4	0,1,2202	188	142	158		1919	3.6	0	12		158	0,8600		0,0,4300	no	missense	LGR5	NM_003667.2	89	0,1,6502	CC,CT,TT		0.0,0.0227,0.0077	benign	640/908	71977709	1,13005	2203	4300	6503	SO:0001583	missense	8549					integral to plasma membrane	protein-hormone receptor activity	g.chr12:71977709T>C	AF062006	CCDS9000.1, CCDS61194.1, CCDS61195.1	12q22-q23	2012-08-21	2011-01-25	2004-11-12				"GPCR / Class A : Orphans"	4504	protein-coding gene	gene with protein product		606667	"G protein-coupled receptor 49", "leucine-rich repeat-containing G protein-coupled receptor 5"	GPR67, GPR49		9642114	Standard	NM_003667		Approved	HG38, FEX	uc001swl.4	O75473	OTTHUMG00000169543	ENST00000266674.5:c.1919T>C	12.37:g.71977709T>C	ENSP00000266674:p.Ile640Thr					LGR5_ENST00000540815.2_Missense_Mutation_p.I616T|LGR5_ENST00000536515.1_Missense_Mutation_p.I568T	p.I640T			O75473	LGR5_HUMAN			18	2230	+			640					D8MCT0|Q4VAM0|Q4VAM2|Q9UP75	Missense_Mutation	SNP	ENST00000266674.5	37	c.1919T>C	CCDS9000.1	.	.	.	.	.	.	.	.	.	.	T	0.040	-1.286619	0.01387	2.27E-4	0.0	ENSG00000139292	ENST00000266674;ENST00000451585;ENST00000536515;ENST00000540815	T;T;T	0.80214	-1.35;-1.35;-1.35	5.95	3.61	0.41365	GPCR, rhodopsin-like superfamily (1);	0.545185	0.17295	N	0.179484	T	0.39708	0.1088	N	0.00128	-2.045	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.43458	-0.9390	10	0.15952	T	0.53	.	6.141	0.20259	0.0:0.3374:0.0:0.6626	.	616;640	O75473-2;O75473	.;LGR5_HUMAN	T	640;640;568;616	ENSP00000266674:I640T;ENSP00000443033:I568T;ENSP00000441035:I616T	ENSP00000266674:I640T	I	+	2	0	LGR5	70263976	0.604000	0.26932	0.005000	0.12908	0.934000	0.57294	2.673000	0.46858	1.071000	0.40834	0.533000	0.62120	ATT		0.493	LGR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404744.1	NM_003667		21	57	0	0	0	0.592651	0	21	57					C	71977709	T	C	71977709	3	2	177	1	0	0	0	0	1	0	0	0	8757	1493	52	4	1989	4	LGR5	12	71977709	Missense_Mutation	SNP	T	TCGA-G9-6385-01A-11D-1786-08	13754387	71977709	61874186	18	8342											
KIAA0586	9786	broad.mit.edu	37	chr14	58896079	58896079	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atctattcctttgttttgttAggttcatcagacttaacttc	8	20	5	8	0	3	1	2	0	1	1	5	1	4	1	1	1	1	3	1	1	3	9			TCGA-G9-6385-01A-11D-1786-08	TCGA-G9-6385-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe227d04-2285-41ff-b5b8-421a317a61c7	fc787cb2-b174-4f58-b4db-22eb3d987661	g.chr14:58896079A>G	ENST00000556134.1	+	3	428		c.e3-1		KIAA0586_ENST00000261244.5_Splice_Site|TIMM9_ENST00000555593.1_5'Flank|RP11-517O13.1_ENST00000556734.1_RNA|TIMM9_ENST00000395159.2_5'Flank|KIAA0586_ENST00000354386.6_Splice_Site|TIMM9_ENST00000216463.4_5'Flank|TIMM9_ENST00000556007.2_5'Flank|KIAA0586_ENST00000423743.3_Splice_Site|TIMM9_ENST00000555404.1_5'Flank	NM_001244190.1|NM_001244193.1	NP_001231119.1|NP_001231122.1	Q9BVV6	TALD3_HUMAN	KIAA0586						cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|regulation of establishment of protein localization (GO:0070201)|smoothened signaling pathway (GO:0007224)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)		p.?(2)		endometrium(4)|kidney(6)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						TTGTTTTGTTAGGTTCATCAG	0.323																																						ENST00000423743.3																			2	Unknown(2)	p.?(2)	prostate(2)	endometrium(4)|kidney(6)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						c.e2-1		KIAA0586							118	112	114					14																	58896079		1804	4069	5873	SO:0001630	splice_region_variant	9786							g.chr14:58896079A>G	AB011158	CCDS45115.1, CCDS58320.1, CCDS58321.1, CCDS58322.1, CCDS73639.1	14q23.1	2012-12-06			ENSG00000100578	ENSG00000100578			19960	protein-coding gene	gene with protein product		610178				16702409	Standard	NM_014749		Approved	Talpid3	uc010trr.2	Q9BVV6	OTTHUMG00000171141	ENST00000556134.1:c.155-1A>G	14.37:g.58896079A>G						KIAA0586_ENST00000354386.6_Splice_Site|KIAA0586_ENST00000556134.1_Splice_Site|KIAA0586_ENST00000261244.5_Splice_Site		NM_001244191.1|NM_001244192.1	NP_001231120.1|NP_001231121.1	E9PGW8	E9PGW8_HUMAN			2	202	+								B4DZB6|E7EWM8|J3KQH9|O60328|Q6NYC6|Q6UV20	Splice_Site	SNP	ENST00000556134.1	37		CCDS58321.1	.	.	.	.	.	.	.	.	.	.	A	17.19	3.327527	0.60743	.	.	ENSG00000100578	ENST00000354386;ENST00000556134;ENST00000261244	.	.	.	5.16	5.16	0.70880	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.5721	0.50839	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	KIAA0586	57965832	0.999000	0.42202	0.976000	0.42696	0.888000	0.51559	3.863000	0.56016	2.291000	0.77112	0.533000	0.62120	.		0.323	KIAA0586-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000411887.1	NM_014749	Intron	3	106	0	0	0	0.115264	0	3	106					G	58896079	A	G	58896079	5	3	177	1	0	0	0	0	0	0	1	0	8186	434	15	4	204	4	KIAA0586	14	58896079	Splice_Site	SNP	A	TCGA-G9-6385-01A-11D-1786-08		58896079	48453461	19	8343											
C14orf153	84334	broad.mit.edu	37	chr14	104056568	104056568	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cttcttcatgggaaaagtggCcctggaaaggatttggaaca	12	10	12	7	0	2	0	1	0	1	0	2	4	2	4	1	5	1	0	1	5	4	3	rs529483936		TCGA-G9-6385-01A-11D-1786-08	TCGA-G9-6385-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe227d04-2285-41ff-b5b8-421a317a61c7	fc787cb2-b174-4f58-b4db-22eb3d987661	g.chr14:104056568C>A	ENST00000409074.2	+	5	567	c.566C>A	c.(565-567)gCc>gAc	p.A189D	APOPT1_ENST00000556253.2_3'UTR|RP11-73M18.2_ENST00000472726.2_Intron|APOPT1_ENST00000247618.4_Missense_Mutation_p.A176D|APOPT1_ENST00000477116.1_3'UTR	NM_032374.3	NP_115750.2	Q96IL0	APOP1_HUMAN	apoptogenic 1, mitochondrial	189					intrinsic apoptotic signaling pathway (GO:0097193)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)	mitochondrion (GO:0005739)											GGAAAAGTGGCCCTGGAAAGG	0.498																																						ENST00000409074.2																			0											c.(565-567)gCc>gAc		apoptogenic 1, mitochondrial							165	167	167					14																	104056568		2203	4300	6503	SO:0001583	missense	84334							g.chr14:104056568C>A	BC007412	CCDS9983.2	14q32.33	2012-06-28	2012-06-28	2011-09-07	ENSG00000256053	ENSG00000256053			20492	protein-coding gene	gene with protein product	"apoptogenic protein 1"		"chromosome 14 open reading frame 153", "apoptogenic 1"	C14orf153		16782708, 18977203	Standard	NM_032374		Approved	MGC2562, APOP-1		Q96IL0	OTTHUMG00000153929	ENST00000409074.2:c.566C>A	14.37:g.104056568C>A	ENSP00000386485:p.Ala189Asp					APOPT1_ENST00000247618.4_Missense_Mutation_p.A176D|RP11-73M18.2_ENST00000472726.2_Intron|APOPT1_ENST00000556253.2_3'UTR|APOPT1_ENST00000477116.1_3'UTR	p.A189D	NM_032374.3	NP_115750.2					5	567	+								Q53G28	Missense_Mutation	SNP	ENST00000409074.2	37	c.566C>A	CCDS9983.2	.	.	.	.	.	.	.	.	.	.	C	13.92	2.382272	0.42207	.	.	ENSG00000256053;ENSG00000256053;ENSG00000256500	ENST00000409074;ENST00000440963;ENST00000247618	T;T;T	0.41065	1.01;1.01;1.01	5.66	2.85	0.33270	.	0.215910	0.37715	N	0.001961	T	0.30039	0.0752	L	0.34521	1.04	0.24980	N	0.9916	P	0.43477	0.808	B	0.41135	0.348	T	0.08472	-1.0720	10	0.35671	T	0.21	.	8.2787	0.31887	0.0:0.7491:0.0:0.2509	.	189	Q96IL0	APOP1_HUMAN	D	189;101;176	ENSP00000386485:A189D;ENSP00000388067:A101D;ENSP00000247618:A176D	ENSP00000247618:A176D	A	+	2	0	C14orf153;RP11-73M18.2	103126321	0.985000	0.35326	0.518000	0.27811	0.203000	0.24098	1.723000	0.38053	0.321000	0.23259	-0.136000	0.14681	GCC		0.498	APOPT1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333060.2	NM_032374		4	191	1	0	0.150653	0.150653	0.159023	4	191					A	104056568	C	A	104056568	3	1	177	1	0	0	0	0	1	0	0	0	1753	739	26	5	584	5	C14orf153	14	104056568	Missense_Mutation	SNP	C	TCGA-G9-6385-01A-11D-1786-08	45160489	104056568	3292972	20	8344											
PHKB	5257	broad.mit.edu	37	chr16	47533728	47533728	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctctttcccactaaaacatgCggtggtgaccagaaggccaa	12	8	9	12	1	1	2	0	1	1	1	2	2	2	2	3	3	2	0	3	3	4	2	rs200312877		TCGA-G9-6385-01A-11D-1786-08	TCGA-G9-6385-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe227d04-2285-41ff-b5b8-421a317a61c7	90ab9245-589c-4c76-b018-77f386ce2b7e	g.chr16:47533728C>T	ENST00000323584.5	+	3	252	c.228C>T	c.(226-228)tgC>tgT	p.C76C	PHKB_ENST00000566044.1_Silent_p.C69C|PHKB_ENST00000567402.1_3'UTR|PHKB_ENST00000299167.8_Silent_p.C76C|PHKB_ENST00000455779.1_Silent_p.C69C	NM_000293.2	NP_000284.1	Q93100	KPBB_HUMAN	phosphorylase kinase, beta	76					carbohydrate metabolic process (GO:0005975)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|glycogen metabolic process (GO:0005977)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|phosphorylase kinase complex (GO:0005964)|plasma membrane (GO:0005886)	hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)|phosphorylase kinase activity (GO:0004689)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|liver(1)|lung(18)|ovary(1)|skin(1)	41		all_cancers(37;0.00447)|all_lung(18;0.00616)|Lung NSC(13;0.0418)|Breast(268;0.203)				CTAAAACATGCGGTGGTGACC	0.507																																						ENST00000455779.1																			0				breast(2)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|liver(1)|lung(18)|ovary(1)|skin(1)	41						c.(205-207)tgC>tgT		phosphorylase kinase, beta							161	150	154					16																	47533728		2201	4300	6501	SO:0001819	synonymous_variant	5257				glucose metabolic process|glycogen catabolic process	cytosol|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity	g.chr16:47533728C>T		CCDS10729.1, CCDS42161.1	16q12-q13	2009-07-10			ENSG00000102893	ENSG00000102893	2.7.11.19		8927	protein-coding gene	gene with protein product		172490					Standard	NM_000293		Approved		uc002eev.4	Q93100	OTTHUMG00000133102	ENST00000323584.5:c.228C>T	16.37:g.47533728C>T						PHKB_ENST00000323584.5_Silent_p.C76C|PHKB_ENST00000299167.8_Silent_p.C76C|PHKB_ENST00000567402.1_3'UTR|PHKB_ENST00000566044.1_Silent_p.C69C	p.C69C			Q93100	KPBB_HUMAN			4	392	+		all_cancers(37;0.00447)|all_lung(18;0.00616)|Lung NSC(13;0.0418)|Breast(268;0.203)	76					Q8N4T5	Silent	SNP	ENST00000323584.5	37	c.207C>T	CCDS10729.1																																																																																				0.507	PHKB-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000430413.1			4	153	0	0	0	0.150653	0	4	153					T	47533728	C	T	47533728	2	4	177	1	0	0	0	0	0	0	0	1	11845	776	27	1		1	PHKB	16	47533728	Silent	SNP	C	TCGA-G9-6385-01A-11D-1786-08		47533728	42821025	21	8345											
NFE2L1	4779	broad.mit.edu	37	chr17	46128887	46128887	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctccaagatgtgacaggccCagacaacggggtgcgagaaa	13	4	13	11	2	0	4	0	1	0	3	1	5	1	4	3	3	2	0	3	3	3	0			TCGA-G9-6385-01A-11D-1786-08	TCGA-G9-6385-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe227d04-2285-41ff-b5b8-421a317a61c7	fc787cb2-b174-4f58-b4db-22eb3d987661	g.chr17:46128887C>A	ENST00000362042.3	+	2	1023	c.407C>A	c.(406-408)cCa>cAa	p.P136Q	NFE2L1_ENST00000585291.1_Missense_Mutation_p.P136Q|NFE2L1_ENST00000357480.5_Missense_Mutation_p.P136Q|NFE2L1_ENST00000361665.3_Missense_Mutation_p.P136Q	NM_003204.2	NP_003195.1	Q14494	NF2L1_HUMAN	nuclear factor, erythroid 2-like 1	136	Asp/Glu-rich (acidic).				anatomical structure morphogenesis (GO:0009653)|erythrocyte differentiation (GO:0030218)|heme biosynthetic process (GO:0006783)|inflammatory response (GO:0006954)|transcription from RNA polymerase II promoter (GO:0006366)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription cofactor activity (GO:0003712)	p.P136Q(1)		cervix(1)|endometrium(3)|kidney(9)|large_intestine(7)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						GTGACAGGCCCAGACAACGGG	0.592																																						ENST00000362042.3																			1	Substitution - Missense(1)	p.P136Q(1)	prostate(1)	cervix(1)|endometrium(3)|kidney(9)|large_intestine(7)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(406-408)cCa>cAa		nuclear factor, erythroid 2-like 1							65	73	70					17																	46128887		2203	4300	6503	SO:0001583	missense	4779				anatomical structure morphogenesis|heme biosynthetic process|inflammatory response|transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity	g.chr17:46128887C>A	AK090459	CCDS11524.1	17q21.3	2013-08-23	2013-08-23			ENSG00000082641		"basic leucine zipper proteins"	7781	protein-coding gene	gene with protein product		163260	"nuclear factor (erythroid-derived 2)-like 1"	TCF11		8248256, 9501099	Standard	NM_003204		Approved	NRF1, LCR-F1, FLJ00380	uc002imz.4	Q14494		ENST00000362042.3:c.407C>A	17.37:g.46128887C>A	ENSP00000354855:p.Pro136Gln					NFE2L1_ENST00000585291.1_Missense_Mutation_p.P136Q|NFE2L1_ENST00000361665.3_Missense_Mutation_p.P136Q|NFE2L1_ENST00000357480.5_Missense_Mutation_p.P136Q	p.P136Q	NM_003204.2	NP_003195.1	Q14494	NF2L1_HUMAN			2	1023	+			136			Asp/Glu-rich (acidic).		D3DTU3|D3DTU5|Q12877|Q96FN6	Missense_Mutation	SNP	ENST00000362042.3	37	c.407C>A	CCDS11524.1	.	.	.	.	.	.	.	.	.	.	C	16.86	3.239991	0.58995	.	.	ENSG00000082641	ENST00000362042;ENST00000361665;ENST00000357480	T;T	0.47869	0.83;0.83	5.3	5.3	0.74995	.	0.783877	0.11979	N	0.510972	T	0.51719	0.1691	L	0.44542	1.39	0.80722	D	1	P;P;P	0.46512	0.879;0.527;0.549	P;B;B	0.48270	0.572;0.354;0.265	T	0.40079	-0.9582	10	0.27785	T	0.31	-2.6793	17.7252	0.88363	0.0:1.0:0.0:0.0	.	136;136;136	A3KMG6;Q14494-2;Q14494	.;.;NF2L1_HUMAN	Q	155;136;136	ENSP00000355190:P136Q;ENSP00000350072:P136Q	ENSP00000350072:P136Q	P	+	2	0	NFE2L1	43483886	0.997000	0.39634	1.000000	0.80357	0.995000	0.86356	3.502000	0.53332	2.495000	0.84180	0.563000	0.77884	CCA		0.592	NFE2L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443019.1	NM_003204		4	88	1	0	0.150653	0.150653	0.159023	4	88					A	46128887	C	A	46128887	3	1	177	1	0	0	0	0	1	0	0	0	10367	594	21	5	409	5	NFE2L1	17	46128887	Missense_Mutation	SNP	C	TCGA-G9-6385-01A-11D-1786-08		46128887	35066323	22	8346											
ZNF562	54811	broad.mit.edu	37	chr19	9771402	9771402	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caacaaggacttaccatgggAcatatcaaaggctgacatcc	15	7	8	11	0	1	1	1	1	0	0	2	3	2	3	2	3	2	1	2	3	5	2			TCGA-G9-6385-01A-11D-1786-08	TCGA-G9-6385-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe227d04-2285-41ff-b5b8-421a317a61c7	fc787cb2-b174-4f58-b4db-22eb3d987661	g.chr19:9771402A>T	ENST00000448622.1	-	2	181	c.19T>A	c.(19-21)Tcc>Acc	p.S7T	ZNF562_ENST00000453792.2_Intron|ZNF562_ENST00000590155.1_Missense_Mutation_p.S7T|ZNF562_ENST00000587392.1_Missense_Mutation_p.S7T|ZNF562_ENST00000453372.2_Missense_Mutation_p.S7T|ZNF562_ENST00000293648.4_Missense_Mutation_p.S7T|ZNF562_ENST00000541032.1_5'UTR|ZNF562_ENST00000537617.1_5'UTR	NM_001130031.1|NM_001130032.1	NP_001123503.1|NP_001123504.1	Q6V9R5	ZN562_HUMAN	zinc finger protein 562	7					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.S7T(2)		NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	17						TTACCATGGGACATATCAAAG	0.488																																						ENST00000448622.1																			2	Substitution - Missense(2)	p.S7T(2)	prostate(2)	NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	17						c.(19-21)Tcc>Acc		zinc finger protein 562							270	229	243					19																	9771402		2203	4300	6503	SO:0001583	missense	54811				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:9771402A>T	AK000086	CCDS12217.1, CCDS45956.1, CCDS74280.1	19p13.2	2013-09-20			ENSG00000171466	ENSG00000171466		"Zinc fingers, C2H2-type", "-"	25950	protein-coding gene	gene with protein product							Standard	NM_001130031		Approved	FLJ20079	uc010xks.2	Q6V9R5	OTTHUMG00000180205	ENST00000448622.1:c.19T>A	19.37:g.9771402A>T	ENSP00000411784:p.Ser7Thr					ZNF562_ENST00000587392.1_Missense_Mutation_p.S7T|ZNF562_ENST00000541032.1_5'UTR|ZNF562_ENST00000590155.1_Missense_Mutation_p.S7T|ZNF562_ENST00000453372.2_Missense_Mutation_p.S7T|ZNF562_ENST00000537617.1_5'UTR|ZNF562_ENST00000293648.4_Missense_Mutation_p.S7T|ZNF562_ENST00000453792.2_Intron	p.S7T	NM_001130031.1|NM_001130032.1	NP_001123503.1|NP_001123504.1	Q6V9R5	ZN562_HUMAN			2	181	-			7					Q32MN2|Q9NXS5	Missense_Mutation	SNP	ENST00000448622.1	37	c.19T>A	CCDS45956.1	.	.	.	.	.	.	.	.	.	.	A	4.257	0.046716	0.08243	.	.	ENSG00000171466	ENST00000453372;ENST00000448622;ENST00000293648	T;T;T	0.09723	2.95;2.95;3.23	1.55	1.55	0.23275	.	.	.	.	.	T	0.15739	0.0379	L	0.29908	0.895	0.19575	N	0.999966	P;P;B	0.46578	0.805;0.88;0.0	P;P;B	0.62184	0.827;0.899;0.0	T	0.14559	-1.0468	9	0.45353	T	0.12	.	5.182	0.15165	1.0:0.0:0.0:0.0	.	7;7;7	B4DMG0;Q6V9R5;Q6V9R5-2	.;ZN562_HUMAN;.	T	7	ENSP00000410734:S7T;ENSP00000411784:S7T;ENSP00000293648:S7T	ENSP00000293648:S7T	S	-	1	0	ZNF562	9632402	0.000000	0.05858	0.003000	0.11579	0.022000	0.10575	-0.363000	0.07593	0.958000	0.37956	0.254000	0.18369	TCC		0.488	ZNF562-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000450239.1	NM_017656		5	213	0	0	0	0.217242	0	5	213					T	9771402	A	T	9771402	3	4	177	1	0	0	0	0	1	0	0	0	17990	275	10	5	1281	5	ZNF562	19	9771402	Missense_Mutation	SNP	A	TCGA-G9-6385-01A-11D-1786-08		9771402	49357581	23	8347											
CCDC105	126402	broad.mit.edu	37	chr19	15131324	15131324	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgcttcaaggagcggctcCaagccgtggacctcatgaac	9	8	11	13	2	3	1	2	1	1	0	4	3	4	3	3	3	4	2	3	3	3	1			TCGA-G9-6385-01A-11D-1786-08	TCGA-G9-6385-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe227d04-2285-41ff-b5b8-421a317a61c7	fc787cb2-b174-4f58-b4db-22eb3d987661	g.chr19:15131324C>A	ENST00000292574.3	+	3	809	c.727C>A	c.(727-729)Caa>Aaa	p.Q243K		NM_173482.2	NP_775753.2	Q8IYK2	CC105_HUMAN	coiled-coil domain containing 105	243						extracellular vesicular exosome (GO:0070062)		p.Q243K(1)		NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(4)|skin(2)	23						GGAGCGGCTCCAAGCCGTGGA	0.617																																						ENST00000292574.3																			1	Substitution - Missense(1)	p.Q243K(1)	prostate(1)	NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(4)|skin(2)	23						c.(727-729)Caa>Aaa		coiled-coil domain containing 105							51	46	48					19																	15131324		2203	4300	6503	SO:0001583	missense	126402				microtubule cytoskeleton organization	microtubule		g.chr19:15131324C>A	AK097684	CCDS12322.1	19p13.12	2008-02-05				ENSG00000160994			26866	protein-coding gene	gene with protein product						12477932	Standard	NM_173482		Approved	FLJ40365	uc002nae.2	Q8IYK2		ENST00000292574.3:c.727C>A	19.37:g.15131324C>A	ENSP00000292574:p.Gln243Lys						p.Q243K	NM_173482.2	NP_775753.2	Q8IYK2	CC105_HUMAN			3	809	+			243					Q8N7T5|Q8NDL5	Missense_Mutation	SNP	ENST00000292574.3	37	c.727C>A	CCDS12322.1	.	.	.	.	.	.	.	.	.	.	C	12.21	1.869690	0.33069	.	.	ENSG00000160994	ENST00000292574	T	0.02323	4.34	4.09	4.09	0.47781	.	0.000000	0.50627	D	0.000113	T	0.09024	0.0223	M	0.65975	2.015	0.25256	N	0.989634	D	0.65815	0.995	P	0.61722	0.893	T	0.18085	-1.0348	10	0.11485	T	0.65	-17.0275	12.2139	0.54396	0.0:1.0:0.0:0.0	.	243	Q8IYK2	CC105_HUMAN	K	243	ENSP00000292574:Q243K	ENSP00000292574:Q243K	Q	+	1	0	CCDC105	14992324	0.998000	0.40836	0.956000	0.39512	0.038000	0.13279	3.739000	0.55075	1.982000	0.57802	0.558000	0.71614	CAA		0.617	CCDC105-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466293.1	NM_173482		4	39	1	0	0.150653	0.150653	0.159023	4	39					A	15131324	C	A	15131324	3	1	177	1	0	0	0	0	1	0	0	0	2740	595	21	5	737	5	CCDC105	19	15131324	Missense_Mutation	SNP	C	TCGA-G9-6385-01A-11D-1786-08	5359922	15131324	43997659	24	8348											
ZNF766	90321	broad.mit.edu	37	chr19	52793389	52793389	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caacttggattaacctttcaGttacctctgccagaactgga	11	12	7	11	0	2	1	1	0	1	1	2	3	2	3	3	2	5	1	3	2	4	4			TCGA-G9-6385-01A-11D-1786-08	TCGA-G9-6385-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe227d04-2285-41ff-b5b8-421a317a61c7	fc787cb2-b174-4f58-b4db-22eb3d987661	g.chr19:52793389G>A	ENST00000439461.1	+	4	388	c.345G>A	c.(343-345)caG>caA	p.Q115Q	ZNF766_ENST00000359102.4_Silent_p.Q130Q|ZNF766_ENST00000593612.1_Silent_p.Q130Q|CTD-2525I3.5_ENST00000594865.1_RNA|ZNF766_ENST00000599581.1_3'UTR	NM_001010851.2	NP_001010851.1	Q5HY98	ZN766_HUMAN	zinc finger protein 766	115					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.Q115Q(1)		breast(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)	17				GBM - Glioblastoma multiforme(134;0.00236)|OV - Ovarian serous cystadenocarcinoma(262;0.00871)		TAACCTTTCAGTTACCTCTGC	0.398																																						ENST00000439461.1																			1	Substitution - coding silent(1)	p.Q115Q(1)	prostate(1)	breast(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)	17						c.(343-345)caG>caA		zinc finger protein 766							80	82	81					19																	52793389		1997	4202	6199	SO:0001819	synonymous_variant	90321				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52793389G>A	AK024074	CCDS46163.1	19q13.33	2013-01-08				ENSG00000196214		"Zinc fingers, C2H2-type", "-"	28063	protein-coding gene	gene with protein product							Standard	XM_006723458		Approved		uc002pyr.1	Q5HY98		ENST00000439461.1:c.345G>A	19.37:g.52793389G>A						ZNF766_ENST00000359102.4_Silent_p.Q130Q|CTD-2525I3.5_ENST00000594865.1_RNA|ZNF766_ENST00000593612.1_Silent_p.Q130Q|ZNF766_ENST00000599581.1_3'UTR	p.Q115Q	NM_001010851.2	NP_001010851.1	Q5HY98	ZN766_HUMAN		GBM - Glioblastoma multiforme(134;0.00236)|OV - Ovarian serous cystadenocarcinoma(262;0.00871)	4	388	+			115					B2RNE0|Q7Z326	Silent	SNP	ENST00000439461.1	37	c.345G>A	CCDS46163.1																																																																																				0.398	ZNF766-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462764.1	NM_001010851		4	67	0	0	0	0.150653	0	4	67					A	52793389	G	A	52793389	2	1	177	1	0	0	0	0	0	0	0	1	18137	1020	36	3		3	ZNF766	19	52793389	Silent	SNP	G	TCGA-G9-6385-01A-11D-1786-08	37662065	52793389	6335594	25	8349											
CCT8L2	150160	broad.mit.edu	37	chr22	17072553	17072553	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtctcctcgtcgacctccccCaacaccactgccacattaat	9	9	4	19	2	1	0	0	0	1	0	5	1	2	0	6	0	2	0	6	0	2	1			TCGA-G9-6385-01A-11D-1786-08	TCGA-G9-6385-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe227d04-2285-41ff-b5b8-421a317a61c7	fc787cb2-b174-4f58-b4db-22eb3d987661	g.chr22:17072553C>A	ENST00000359963.3	-	1	1147	c.888G>T	c.(886-888)ttG>ttT	p.L296F		NM_014406.4	NP_055221.1	Q96SF2	TCPQM_HUMAN	chaperonin containing TCP1, subunit 8 (theta)-like 2	296					anion transport (GO:0006820)|cellular protein metabolic process (GO:0044267)|potassium ion transmembrane transport (GO:0071805)|transport (GO:0006810)	cytoplasm (GO:0005737)	anion channel activity (GO:0005253)|ATP binding (GO:0005524)|calcium-activated potassium channel activity (GO:0015269)			breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1)	67	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				CGACCTCCCCCAACACCACTG	0.493																																						ENST00000359963.3																			0				breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1)	67						c.(886-888)ttG>ttT		chaperonin containing TCP1, subunit 8 (theta)-like 2							207	184	192					22																	17072553		2203	4300	6503	SO:0001583	missense	150160				cellular protein metabolic process	cytoplasm	anion channel activity|ATP binding|calcium-activated potassium channel activity	g.chr22:17072553C>A	AP003553	CCDS13738.1	22q11.1	2011-09-01			ENSG00000198445	ENSG00000198445			15553	protein-coding gene	gene with protein product							Standard	NM_014406		Approved	CESK1	uc002zlp.1	Q96SF2	OTTHUMG00000141302	ENST00000359963.3:c.888G>T	22.37:g.17072553C>A	ENSP00000353048:p.Leu296Phe						p.L296F	NM_014406.4	NP_055221.1	Q96SF2	TCPQM_HUMAN			1	1147	-	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)	296					A4QPH3|Q9UJS3	Missense_Mutation	SNP	ENST00000359963.3	37	c.888G>T	CCDS13738.1	.	.	.	.	.	.	.	.	.	.	c	10.10	1.256471	0.22965	.	.	ENSG00000198445	ENST00000359963	T	0.78816	-1.21	1.98	1.98	0.26296	.	0.697010	0.11886	U	0.520009	T	0.62392	0.2424	N	0.22421	0.69	0.23700	N	0.997075	B	0.25904	0.137	B	0.23018	0.043	T	0.55541	-0.8125	10	0.56958	D	0.05	-6.2386	7.4423	0.27190	0.0:1.0:0.0:0.0	.	296	Q96SF2	TCPQM_HUMAN	F	296	ENSP00000353048:L296F	ENSP00000353048:L296F	L	-	3	2	CCT8L2	15452553	0.359000	0.24955	0.286000	0.24833	0.029000	0.11900	0.793000	0.26944	1.115000	0.41800	0.379000	0.24179	TTG		0.493	CCT8L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280580.1			5	233	1	0	0.00116845	0.217242	0.00138753	5	233					A	17072553	C	A	17072553	3	1	177	1	0	0	0	0	1	0	0	0	2961	593	21	5	789	5	CCT8L2	22	17072553	Missense_Mutation	SNP	C	TCGA-G9-6385-01A-11D-1786-08		17072553	34232013	26	8350											
ASPHD2	57168	broad.mit.edu	37	chr22	26829759	26829759	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgcgggactgcgacaccaccGctgtcatcactgtggcctgc	6	8	12	15	3	2	0	2	0	0	0	2	2	2	1	3	2	3	1	3	2	0	0			TCGA-G9-6385-01A-11D-1786-08	TCGA-G9-6385-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe227d04-2285-41ff-b5b8-421a317a61c7	fc787cb2-b174-4f58-b4db-22eb3d987661	g.chr22:26829759G>A	ENST00000215906.5	+	2	616	c.178G>A	c.(178-180)Gct>Act	p.A60T		NM_020437.4	NP_065170.2	Q6ICH7	ASPH2_HUMAN	aspartate beta-hydroxylase domain containing 2	60					peptidyl-amino acid modification (GO:0018193)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	dioxygenase activity (GO:0051213)|metal ion binding (GO:0046872)	p.A34T(1)		endometrium(3)|large_intestine(3)|lung(4)|ovary(1)|prostate(4)|urinary_tract(1)	16						CGACACCACCGCTGTCATCAC	0.647																																						ENST00000215906.5																			1	Substitution - Missense(1)	p.A34T(1)	prostate(1)	endometrium(3)|large_intestine(3)|lung(4)|ovary(1)|prostate(4)|urinary_tract(1)	16						c.(178-180)Gct>Act		aspartate beta-hydroxylase domain containing 2							95	80	85					22																	26829759		2203	4300	6503	SO:0001583	missense	57168				peptidyl-amino acid modification	integral to endoplasmic reticulum membrane	oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptide-aspartate beta-dioxygenase activity	g.chr22:26829759G>A	AK097157	CCDS13834.2	22q12.1	2006-02-02			ENSG00000128203	ENSG00000128203			30437	protein-coding gene	gene with protein product							Standard	NM_020437		Approved	FLJ39838	uc003acg.2	Q6ICH7	OTTHUMG00000150884	ENST00000215906.5:c.178G>A	22.37:g.26829759G>A	ENSP00000215906:p.Ala60Thr						p.A60T	NM_020437.4	NP_065170.2	Q6ICH7	ASPH2_HUMAN			2	616	+			60					B2RCH3|Q7L0W3|Q9NSN3	Missense_Mutation	SNP	ENST00000215906.5	37	c.178G>A	CCDS13834.2	.	.	.	.	.	.	.	.	.	.	G	15.64	2.894751	0.52121	.	.	ENSG00000128203	ENST00000215906	T	0.50277	0.75	4.57	4.57	0.56435	.	0.132959	0.49916	D	0.000133	T	0.42585	0.1209	N	0.24115	0.695	0.54753	D	0.999986	D	0.56968	0.978	P	0.47626	0.552	T	0.49011	-0.8983	10	0.66056	D	0.02	-23.7877	16.5399	0.84382	0.0:0.0:1.0:0.0	.	60	Q6ICH7	ASPH2_HUMAN	T	60	ENSP00000215906:A60T	ENSP00000215906:A60T	A	+	1	0	ASPHD2	25159759	1.000000	0.71417	0.072000	0.20136	0.541000	0.35023	6.640000	0.74319	2.368000	0.80403	0.563000	0.77884	GCT		0.647	ASPHD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320422.1	NM_020437		4	91	0	0	0	0.184627	0	4	91					A	26829759	G	A	26829759	3	1	177	1	0	0	0	0	1	0	0	0	1055	1087	38	1	180	1	ASPHD2	22	26829759	Missense_Mutation	SNP	G	TCGA-G9-6385-01A-11D-1786-08	9757206	26829759	24474807	27	8351											
NUDT10	170685	broad.mit.edu	37	chrX	51076024	51076024	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtccgagaggtgtacgaagaGgcgggagtcaaggggaagtt	11	6	19	5	3	1	2	1	0	0	2	2	6	2	4	1	5	1	2	1	5	4	2	rs143435240		TCGA-G9-6385-01A-11D-1786-08	TCGA-G9-6385-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe227d04-2285-41ff-b5b8-421a317a61c7	fc787cb2-b174-4f58-b4db-22eb3d987661	g.chrX:51076024G>A	ENST00000376006.3	+	2	427	c.207G>A	c.(205-207)gaG>gaA	p.E69E	NUDT10_ENST00000356450.2_Silent_p.E69E	NM_153183.2	NP_694853.1	Q9BW91	NUDT9_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 10	234					ADP catabolic process (GO:0046032)|IDP catabolic process (GO:0046709)|nucleobase-containing small molecule catabolic process (GO:0034656)|nucleobase-containing small molecule metabolic process (GO:0055086)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|mitochondrial matrix (GO:0005759)	adenosine-diphosphatase activity (GO:0043262)|ADP-ribose diphosphatase activity (GO:0047631)|ADP-sugar diphosphatase activity (GO:0019144)	p.E69E(8)		cervix(1)|endometrium(8)|kidney(1)|large_intestine(1)|lung(1)|prostate(3)|upper_aerodigestive_tract(1)	16	Ovarian(276;0.236)					TGTACGAAGAGGCGGGAGTCA	0.657																																					NSCLC(90;1817 2035 37909 38249)	ENST00000376006.3																			8	Substitution - coding silent(8)	p.E69E(8)	endometrium(5)|cervix(1)|prostate(1)|lung(1)	cervix(1)|endometrium(8)|kidney(1)|large_intestine(1)|lung(1)|prostate(3)|upper_aerodigestive_tract(1)	16						c.(205-207)gaG>gaA		nudix (nucleoside diphosphate linked moiety X)-type motif 10							52	62	59					X																	51076024		2203	4300	6503	SO:0001819	synonymous_variant	170685					cytoplasm	diphosphoinositol-polyphosphate diphosphatase activity|metal ion binding	g.chrX:51076024G>A	AF469196	CCDS35278.1	Xp11.22-p11.1	2014-05-20			ENSG00000122824	ENSG00000122824		"Nudix motif containing"	17621	protein-coding gene	gene with protein product		300527				12105228	Standard	NM_153183		Approved	DIPP3a, hDIPP3alpha	uc004dph.3	Q8NFP7	OTTHUMG00000021530	ENST00000376006.3:c.207G>A	X.37:g.51076024G>A						NUDT10_ENST00000356450.2_Silent_p.E69E	p.E69E	NM_153183.2	NP_694853.1	Q8NFP7	NUD10_HUMAN			2	427	+	Ovarian(276;0.236)		69			Nudix hydrolase.		Q8NBN1|Q8NCB9|Q8NG25	Silent	SNP	ENST00000376006.3	37	c.207G>A	CCDS35278.1																																																																																				0.657	NUDT10-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056578.1	NM_153183		3	33	0	0	0	0.115264	0	3	33					A	51076024	G	A	51076024	2	1	177	1	0	0	0	0	0	0	0	1	10726	991	35	3		3	NUDT10	23	51076024	Silent	SNP	G	TCGA-G9-6385-01A-11D-1786-08		51076024	104194536	28	8352											
COL16A1	1307	broad.mit.edu	37	chr1	32150183	32150183	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctcctgacagtcctggccGccctgtggtgcccggcgttc	2	10	12	17	3	1	1	0	1	1	0	4	1	2	1	5	3	1	1	5	3	0	1	rs201165083	byFrequency	TCGA-G9-6494-01A-11D-1786-08	TCGA-G9-6494-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d67b53-8534-402e-b082-1b75ec2aff1e	2821a5f1-f23f-467c-aa21-b9a0f8d623d8	g.chr1:32150183G>A	ENST00000373672.3	-	31	2617	c.2101C>T	c.(2101-2103)Cgg>Tgg	p.R701W	COL16A1_ENST00000373668.3_Missense_Mutation_p.R701W|COL16A1_ENST00000271069.6_Missense_Mutation_p.R700W	NM_001856.3	NP_001847.3	Q07092	COGA1_HUMAN	collagen, type XVI, alpha 1	701	Collagen-like 3.|Triple-helical region 6 (COL6) with 1 imperfection.				cell adhesion (GO:0007155)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|female pregnancy (GO:0007565)|integrin-mediated signaling pathway (GO:0007229)	collagen type XVI trimer (GO:0005597)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	integrin binding (GO:0005178)	p.R701W(1)		breast(4)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(15)|ovary(8)|prostate(4)	48		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0423)|all_neural(195;0.0837)|Breast(348;0.116)		STAD - Stomach adenocarcinoma(196;0.059)		AGTCCTGGCCGCCCTGTGGTG	0.637													G|||	4	0.000798722	0.003	0	5008	,	,		16152	0		0	False		,,,				2504	0				Colon(143;498 1786 21362 25193 36625)	ENST00000373672.3																			1	Substitution - Missense(1)	p.R701W(1)	prostate(1)	breast(4)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(15)|ovary(8)|prostate(4)	48						c.(2101-2103)Cgg>Tgg		collagen, type XVI, alpha 1		G	TRP/ARG	3,3735		0,3,1866	45	50	48		2101	5.3	0.9	1		48	0,8200		0,0,4100	yes	missense	COL16A1	NM_001856.3	101	0,3,5966	AA,AG,GG		0.0,0.0803,0.0251	probably-damaging	701/1605	32150183	3,11935	1869	4100	5969	SO:0001583	missense	1307				cell adhesion|female pregnancy|integrin-mediated signaling pathway	collagen type XVI	integrin binding|structural molecule activity	g.chr1:32150183G>A	M92642	CCDS41297.1	1p35-p34	2013-01-16			ENSG00000084636	ENSG00000084636		"Collagens"	2193	protein-coding gene	gene with protein product		120326				1631157	Standard	NM_001856		Approved		uc001btk.1	Q07092	OTTHUMG00000003883	ENST00000373672.3:c.2101C>T	1.37:g.32150183G>A	ENSP00000362776:p.Arg701Trp					COL16A1_ENST00000373668.3_Missense_Mutation_p.R701W|COL16A1_ENST00000271069.6_Missense_Mutation_p.R700W	p.R701W	NM_001856.3	NP_001847.3	Q07092	COGA1_HUMAN		STAD - Stomach adenocarcinoma(196;0.059)	31	2617	-		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0423)|all_neural(195;0.0837)|Breast(348;0.116)	701			Triple-helical region 6 (COL6) with 1 imperfection.		Q16593|Q59F89|Q71RG9	Missense_Mutation	SNP	ENST00000373672.3	37	c.2101C>T	CCDS41297.1	3	0.0013736263736263737	3	0.006097560975609756	0	0.0	0	0.0	0	0.0	G	13.31	2.199260	0.38806	8.03E-4	0.0	ENSG00000084636	ENST00000373672;ENST00000271069;ENST00000373668	D;D;D	0.93712	-3.27;-3.27;-3.16	5.34	5.34	0.76211	.	0.784761	0.12389	N	0.473219	D	0.91526	0.7324	L	0.52573	1.65	0.27606	N	0.948821	D;D;D	0.61697	0.99;0.974;0.968	P;P;B	0.51895	0.683;0.567;0.431	D	0.86596	0.1863	10	0.38643	T	0.18	.	14.9314	0.70916	0.0:0.0:1.0:0.0	.	701;701;701	A6NCT7;Q07092;Q07092-2	.;COGA1_HUMAN;.	W	701;700;701	ENSP00000362776:R701W;ENSP00000271069:R700W;ENSP00000362772:R701W	ENSP00000271069:R700W	R	-	1	2	COL16A1	31922770	0.663000	0.27448	0.924000	0.36721	0.190000	0.23558	1.656000	0.37355	2.677000	0.91161	0.655000	0.94253	CGG		0.637	COL16A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011057.2	NM_001856		11	81	0	0	0	0.080935	0	11	81					A	32150183	G	A	32150183	3	1	178	1	0	0	0	0	1	0	0	0	3673	1086	38	1	2877	1	COL16A1	1	32150183	Missense_Mutation	SNP	G	TCGA-G9-6494-01A-11D-1786-08		32150183	217100438	1	8353											
KANK4	163782	broad.mit.edu	37	chr1	62739491	62739491	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gttgacttcaatgcccttatCacacgactccctggtcaaga	10	11	7	13	1	3	2	3	1	0	1	4	3	4	2	2	1	1	1	2	1	3	3			TCGA-G9-6494-01A-11D-1786-08	TCGA-G9-6494-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d67b53-8534-402e-b082-1b75ec2aff1e	2821a5f1-f23f-467c-aa21-b9a0f8d623d8	g.chr1:62739491C>T	ENST00000371153.4	-	3	1663	c.1285G>A	c.(1285-1287)Gat>Aat	p.D429N	KANK4_ENST00000371150.1_5'Flank|KANK4_ENST00000354381.3_Intron	NM_181712.4	NP_859063.3	Q5T7N3	KANK4_HUMAN	KN motif and ankyrin repeat domains 4	429						cytoplasm (GO:0005737)		p.D429N(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(49)|ovary(3)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	81						ATGCCCTTATCACACGACTCC	0.547																																						ENST00000371153.4																			1	Substitution - Missense(1)	p.D429N(1)	prostate(1)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(49)|ovary(3)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	81						c.(1285-1287)Gat>Aat		KN motif and ankyrin repeat domains 4							212	194	200					1																	62739491		2203	4300	6503	SO:0001583	missense	163782							g.chr1:62739491C>T	AK096259	CCDS620.1	1p31.3	2013-10-11	2008-01-29	2008-01-29	ENSG00000132854	ENSG00000132854		"KN motif and ankyrin repeat domain containing", "Ankyrin repeat domain containing"	27263	protein-coding gene	gene with protein product		614612	"ankyrin repeat domain 38"	ANKRD38		17996375, 19554261	Standard	NM_181712		Approved	KIAA0172	uc001dah.4	Q5T7N3	OTTHUMG00000008971	ENST00000371153.4:c.1285G>A	1.37:g.62739491C>T	ENSP00000360195:p.Asp429Asn					KANK4_ENST00000354381.3_Intron	p.D429N	NM_181712.4	NP_859063.3	Q5T7N3	KANK4_HUMAN			3	1663	-			429					B1ALP7|Q6P9A0|Q86T71|Q86VE6|Q8NAX3	Missense_Mutation	SNP	ENST00000371153.4	37	c.1285G>A	CCDS620.1	.	.	.	.	.	.	.	.	.	.	C	16.80	3.222322	0.58560	.	.	ENSG00000132854	ENST00000371153	T	0.58797	0.31	5.67	5.67	0.87782	.	0.000000	0.41712	D	0.000833	T	0.74275	0.3695	M	0.66939	2.045	0.80722	D	1	D	0.89917	1.0	D	0.69307	0.963	T	0.75233	-0.3390	10	0.59425	D	0.04	-30.3832	17.5554	0.87888	0.0:1.0:0.0:0.0	.	429	Q5T7N3	KANK4_HUMAN	N	429	ENSP00000360195:D429N	ENSP00000360195:D429N	D	-	1	0	KANK4	62512079	0.999000	0.42202	0.984000	0.44739	0.030000	0.12068	5.172000	0.65003	2.677000	0.91161	0.561000	0.74099	GAT		0.547	KANK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024877.1	NM_181712		6	224	0	0	0	0.021553	0	6	224					T	62739491	C	T	62739491	3	4	178	1	0	0	0	0	1	0	0	0	7979	826	29	3	1734	3	KANK4	1	62739491	Missense_Mutation	SNP	C	TCGA-G9-6494-01A-11D-1786-08	30589308	62739491	186511130	2	8354											
HFM1	164045	broad.mit.edu	37	chr1	91781959	91781959	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tataactaccaattcaagttCccttgcatctgtctcttcta	10	16	3	12	0	4	0	1	0	3	0	6	0	5	0	2	0	3	2	2	0	6	8			TCGA-G9-6494-01A-11D-1786-08	TCGA-G9-6494-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d67b53-8534-402e-b082-1b75ec2aff1e	2821a5f1-f23f-467c-aa21-b9a0f8d623d8	g.chr1:91781959C>A	ENST00000370425.3	-	26	2985	c.2887G>T	c.(2887-2889)Gaa>Taa	p.E963*	HFM1_ENST00000462405.1_5'UTR|HFM1_ENST00000294696.5_Nonsense_Mutation_p.E195*|HFM1_ENST00000370424.3_Nonsense_Mutation_p.E642*	NM_001017975.3	NP_001017975.3	A2PYH4	HFM1_HUMAN	HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae)	963	SEC63.				resolution of meiotic recombination intermediates (GO:0000712)		ATP binding (GO:0005524)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)	p.E963*(1)		breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	75		all_lung(203;0.00961)|Lung NSC(277;0.0351)		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)		AATTCAAGTTCCCTTGCATCT	0.303																																						ENST00000370425.3																			1	Substitution - Nonsense(1)	p.E963*(1)	prostate(1)	breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	75						c.(2887-2889)Gaa>Taa		HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae)							83	85	84					1																	91781959		2202	4290	6492	SO:0001587	stop_gained	164045						ATP binding|ATP-dependent helicase activity|nucleic acid binding	g.chr1:91781959C>A	AB204867	CCDS30769.2	1p22.2	2008-03-26			ENSG00000162669	ENSG00000162669			20193	protein-coding gene	gene with protein product		615684	"SEC63 domain containing 1"	SEC63D1		14702039, 17286053	Standard	XM_006710395		Approved	MER3, FLJ39011, FLJ36760	uc001doa.4	A2PYH4	OTTHUMG00000010093	ENST00000370425.3:c.2887G>T	1.37:g.91781959C>A	ENSP00000359454:p.Glu963*					HFM1_ENST00000462405.1_5'UTR|HFM1_ENST00000370424.3_Nonsense_Mutation_p.E642*|HFM1_ENST00000294696.5_Nonsense_Mutation_p.E195*	p.E963*	NM_001017975.3	NP_001017975.3	A2PYH4	HFM1_HUMAN		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)	26	2985	-		all_lung(203;0.00961)|Lung NSC(277;0.0351)	963			SEC63.		B1B0B6|Q8N9Q0	Nonsense_Mutation	SNP	ENST00000370425.3	37	c.2887G>T	CCDS30769.2	.	.	.	.	.	.	.	.	.	.	C	39	7.414675	0.98269	.	.	ENSG00000162669	ENST00000370425;ENST00000294696;ENST00000370424;ENST00000370421	.	.	.	5.07	2.13	0.27403	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	.	8.4151	0.32666	0.0:0.7299:0.1274:0.1427	.	.	.	.	X	963;195;642;647	.	ENSP00000294696:E195X	E	-	1	0	HFM1	91554547	1.000000	0.71417	0.996000	0.52242	0.986000	0.74619	3.662000	0.54510	0.152000	0.19188	0.557000	0.71058	GAA		0.303	HFM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316716.2	NM_001017975		7	86	1	0	0.00307968	0.038147	0.00332804	7	86					A	91781959	C	A	91781959	4	1	178	1	0	0	0	0	0	1	0	0	7083	864	30	5	1476	5	HFM1	1	91781959	Nonsense_Mutation	SNP	C	TCGA-G9-6494-01A-11D-1786-08	29042468	91781959	157468662	3	8355											
RC3H1	149041	broad.mit.edu	37	chr1	173941766	173941767	+	Splice_Site	INS	-	-	TA																															caagtaggaggaggagcatcINStatacaaccaatgataatgt																										TCGA-G9-6494-01A-11D-1786-08	TCGA-G9-6494-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d67b53-8534-402e-b082-1b75ec2aff1e	2821a5f1-f23f-467c-aa21-b9a0f8d623d8	g.chr1:173941766_173941767insTA	ENST00000367696.2	-	8	1454		c.e8-1		RC3H1_ENST00000258349.4_Splice_Site|RC3H1_ENST00000367694.2_Splice_Site			Q5TC82	RC3H1_HUMAN	ring finger and CCCH-type domains 1						B cell homeostasis (GO:0001782)|cytoplasmic mRNA processing body assembly (GO:0033962)|lymph node development (GO:0048535)|negative regulation of activated T cell proliferation (GO:0046007)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of germinal center formation (GO:0002635)|negative regulation of T-helper cell differentiation (GO:0045623)|nuclear-transcribed mRNA catabolic process (GO:0000956)|positive regulation of NIK/NF-kappaB signaling (GO:1901224)|posttranscriptional regulation of gene expression (GO:0010608)|protein ubiquitination (GO:0016567)|regulation of germinal center formation (GO:0002634)|regulation of mRNA stability (GO:0043488)|regulation of T cell receptor signaling pathway (GO:0050856)|spleen development (GO:0048536)|T cell homeostasis (GO:0043029)|T cell proliferation (GO:0042098)|T follicular helper cell differentiation (GO:0061470)	cytoplasmic mRNA processing body (GO:0000932)|cytoplasmic stress granule (GO:0010494)	mRNA 3'-UTR binding (GO:0003730)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	50						GGAGGAGCATCTATACAACCAA	0.361																																						ENST00000367696.2																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	50						c.e8-1		ring finger and CCCH-type domains 1																																				SO:0001630	splice_region_variant	149041				cytoplasmic mRNA processing body assembly|negative regulation of activated T cell proliferation|negative regulation of B cell proliferation|negative regulation of germinal center formation|negative regulation of T-helper cell differentiation|nuclear-transcribed mRNA catabolic process|regulation of mRNA stability|regulation of T cell receptor signaling pathway	cytoplasmic mRNA processing body|stress granule	mRNA 3'-UTR binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr1:173941766_173941767insTA	AK093501	CCDS30940.1, CCDS72987.1	1q25.1	2013-01-18	2010-09-15		ENSG00000135870	ENSG00000135870		"RING-type (C3HC4) zinc fingers", "Zinc fingers, CCCH-type domain containing"	29434	protein-coding gene	gene with protein product	"KIAA2025 protein"	609424	"ring finger and CCCH-type zinc finger domains 1"			15917799	Standard	XM_005244918		Approved	KIAA2025, roquin, RP5-1198E17.5, RNF198	uc001gju.4	Q5TC82	OTTHUMG00000037275	ENST00000367696.2:c.1103-1->TA	1.37:g.173941769_173941770dupTA						RC3H1_ENST00000367694.2_Splice_Site|RC3H1_ENST00000258349.4_Splice_Site				Q5TC82	RC3H1_HUMAN			8	1454	-								B3KVK1|Q5W180|Q5W181|Q8IVE6|Q8N9V1	Splice_Site	INS	ENST00000367696.2	37		CCDS30940.1																																																																																				0.361	RC3H1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090733.2	NM_172071	Intron	11	69						11	69	---	---	---	---	TA	173941767	-	TA	173941766	8	5	178	1	0	1	1	0	0	0	1	0	13166	927	32	0	2351	0	RC3H1	1	173941766	Splice_Site	INS	-	TCGA-G9-6494-01A-11D-1786-08	82159807	173941766	75308855	4	8356											
KIF21B	23046	broad.mit.edu	37	chr1	200960075	200960075	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gggtgccattgacagtgggcGcaggatggtcccccaagaag	9	6	16	10	1	0	2	0	1	0	1	1	3	1	3	3	4	1	1	3	4	2	1	rs201355461		TCGA-G9-6494-01A-11D-1786-08	TCGA-G9-6494-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d67b53-8534-402e-b082-1b75ec2aff1e	2821a5f1-f23f-467c-aa21-b9a0f8d623d8	g.chr1:200960075G>T	ENST00000422435.2	-	18	2973	c.2657C>A	c.(2656-2658)gCg>gAg	p.A886E	KIF21B_ENST00000332129.2_Missense_Mutation_p.A886E|KIF21B_ENST00000360529.5_Missense_Mutation_p.A886E|KIF21B_ENST00000461742.2_Missense_Mutation_p.A886E	NM_001252100.1	NP_001239029.1	O75037	KI21B_HUMAN	kinesin family member 21B	886					ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.A886E(1)		autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						GACAGTGGGCGCAGGATGGTC	0.632																																						ENST00000332129.2																			1	Substitution - Missense(1)	p.A886E(1)	prostate(1)	autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						c.(2656-2658)gCg>gAg		kinesin family member 21B							83	84	83					1																	200960075		2203	4300	6503	SO:0001583	missense	23046				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr1:200960075G>T	BC031927	CCDS30965.1, CCDS58054.1, CCDS58055.1, CCDS58056.1	1q32.1	2013-01-10			ENSG00000116852	ENSG00000116852		"Kinesins", "WD repeat domain containing"	29442	protein-coding gene	gene with protein product		608322				9455484	Standard	NM_001252100		Approved	DKFZP434J212, KIAA0449	uc001gvs.2	O75037	OTTHUMG00000035787	ENST00000422435.2:c.2657C>A	1.37:g.200960075G>T	ENSP00000411831:p.Ala886Glu					KIF21B_ENST00000422435.2_Missense_Mutation_p.A886E|KIF21B_ENST00000461742.2_Missense_Mutation_p.A886E|KIF21B_ENST00000360529.5_Missense_Mutation_p.A886E	p.A886E	NM_001252102.1|NM_001252103.1|NM_017596.3	NP_001239031.1|NP_001239032.1|NP_060066.2	O75037	KI21B_HUMAN			18	2973	-			886					B2RP62|B7ZMI0|Q5T4J3	Missense_Mutation	SNP	ENST00000422435.2	37	c.2657C>A	CCDS58056.1	.	.	.	.	.	.	.	.	.	.	G	5.173	0.217434	0.09810	.	.	ENSG00000116852	ENST00000332129;ENST00000360529;ENST00000461742;ENST00000422435;ENST00000539858	T;T;T;T	0.71222	-0.19;-0.5;-0.55;-0.24	4.65	-0.00807	0.14006	.	0.454199	0.22613	N	0.057810	T	0.45875	0.1364	N	0.25647	0.755	0.09310	N	1	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.06405	0.001;0.001;0.002;0.001	T	0.21177	-1.0253	10	0.07325	T	0.83	.	4.8652	0.13604	0.3567:0.1449:0.4985:0.0	.	886;886;886;886	B7ZMI0;B2RP62;O75037;O75037-2	.;.;KI21B_HUMAN;.	E	886	ENSP00000328494:A886E;ENSP00000353724:A886E;ENSP00000433808:A886E;ENSP00000411831:A886E	ENSP00000328494:A886E	A	-	2	0	KIF21B	199226698	0.001000	0.12720	0.000000	0.03702	0.002000	0.02628	1.064000	0.30579	0.096000	0.17463	-0.367000	0.07326	GCG		0.632	KIF21B-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382635.1	XM_371332		7	96	1	0	0.00307968	0.038147	0.00332804	7	96					T	200960075	G	T	200960075	3	4	178	1	0	0	0	0	1	0	0	0	8289	1087	38	5	2285	5	KIF21B	1	200960075	Missense_Mutation	SNP	G	TCGA-G9-6494-01A-11D-1786-08	27018309	200960075	48290546	5	8357											
ITGB1BP1	9270	broad.mit.edu	37	chr2	9558813	9558813	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tactactgtgtcgttttttgCccttgcgaaacatttttcac	7	18	6	10	2	1	0	1	0	0	0	2	1	1	0	1	0	5	1	1	0	3	8			TCGA-G9-6494-01A-11D-1786-08	TCGA-G9-6494-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d67b53-8534-402e-b082-1b75ec2aff1e	2821a5f1-f23f-467c-aa21-b9a0f8d623d8	g.chr2:9558813C>T	ENST00000360635.3	-	3	910	c.14G>A	c.(13-15)gGc>gAc	p.G5D	ITGB1BP1_ENST00000359712.3_Missense_Mutation_p.G5D|ITGB1BP1_ENST00000355346.4_Missense_Mutation_p.G5D|ITGB1BP1_ENST00000238091.4_Missense_Mutation_p.G5D|ITGB1BP1_ENST00000488451.1_Missense_Mutation_p.G5D|ITGB1BP1_ENST00000456913.2_Missense_Mutation_p.G5D|ITGB1BP1_ENST00000490426.1_Intron			O14713	ITBP1_HUMAN	integrin beta 1 binding protein 1	5					activation of protein kinase B activity (GO:0032148)|biomineral tissue development (GO:0031214)|blood vessel endothelial cell proliferation involved in sprouting angiogenesis (GO:0002043)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|integrin activation (GO:0033622)|integrin-mediated signaling pathway (GO:0007229)|intracellular signal transduction (GO:0035556)|myoblast migration (GO:0051451)|negative regulation of cell adhesion involved in substrate-bound cell migration (GO:0006933)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of cell proliferation (GO:0008285)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of protein binding (GO:0032091)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein targeting to membrane (GO:0090315)|negative regulation of substrate adhesion-dependent cell spreading (GO:1900025)|Notch signaling pathway (GO:0007219)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein transport (GO:0015031)|receptor clustering (GO:0043113)|regulation of blood vessel size (GO:0050880)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell adhesion mediated by integrin (GO:0033628)|regulation of integrin-mediated signaling pathway (GO:2001044)|transcription, DNA-templated (GO:0006351)|tube formation (GO:0035148)	cell periphery (GO:0071944)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	GDP-dissociation inhibitor activity (GO:0005092)|integrin binding (GO:0005178)|protein complex binding (GO:0032403)|protein transporter activity (GO:0008565)	p.G5D(1)		kidney(2)|large_intestine(2)|lung(2)|prostate(2)	8	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.23)		TCGTTTTTTGCCCTTGCGAAA	0.393																																						ENST00000360635.3																			1	Substitution - Missense(1)	p.G5D(1)	prostate(1)	kidney(2)|large_intestine(2)|lung(2)|prostate(2)	8						c.(13-15)gGc>gAc		integrin beta 1 binding protein 1							301	290	294					2																	9558813		2203	4300	6503	SO:0001583	missense	9270				cell migration|cell-matrix adhesion|intracellular protein kinase cascade	cytosol|lamellipodium|membrane|ruffle	protein binding	g.chr2:9558813C>T	AF012023	CCDS1662.1, CCDS1663.1	2p25.2	2008-02-05			ENSG00000119185	ENSG00000119185			23927	protein-coding gene	gene with protein product	"integrin cytoplasmic domain-associated protein 1", "integrin cytoplasmic domain-associated protein 1-beta", "integrin cytoplasmic domain-associated protein 1-alpha", "bodenin"	607153				11854171, 9281591	Standard	NM_004763		Approved	ICAP-1A, ICAP-1B, ICAP1, ICAP1A, ICAP1B, ICAP-1alpha	uc002qzj.3	O14713	OTTHUMG00000090414	ENST00000360635.3:c.14G>A	2.37:g.9558813C>T	ENSP00000353850:p.Gly5Asp					ITGB1BP1_ENST00000359712.3_Missense_Mutation_p.G5D|ITGB1BP1_ENST00000355346.4_Missense_Mutation_p.G5D|ITGB1BP1_ENST00000238091.4_Missense_Mutation_p.G5D|ITGB1BP1_ENST00000490426.1_Intron|ITGB1BP1_ENST00000488451.1_Missense_Mutation_p.G5D|ITGB1BP1_ENST00000456913.2_Missense_Mutation_p.G5D	p.G5D			O14713	ITBP1_HUMAN		Epithelial(75;0.23)	3	910	-	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		5					D6W4Y9|O14714|Q53RS0	Missense_Mutation	SNP	ENST00000360635.3	37	c.14G>A	CCDS1662.1	.	.	.	.	.	.	.	.	.	.	C	17.06	3.292098	0.59976	.	.	ENSG00000119185	ENST00000360635;ENST00000238091;ENST00000355346;ENST00000359712;ENST00000488451;ENST00000456913;ENST00000492079;ENST00000494563;ENST00000467606;ENST00000484735;ENST00000460001;ENST00000497105	.	.	.	5.54	5.54	0.83059	.	0.048386	0.85682	D	0.000000	T	0.60405	0.2266	N	0.14661	0.345	0.48452	D	0.999653	D;D;D	0.69078	0.997;0.997;0.997	P;P;P	0.62560	0.904;0.845;0.904	T	0.65471	-0.6160	9	0.54805	T	0.06	-41.9665	18.4694	0.90767	0.0:1.0:0.0:0.0	.	5;5;5	A8MPU2;O14713-2;O14713	.;.;ITBP1_HUMAN	D	5	.	ENSP00000238091:G5D	G	-	2	0	ITGB1BP1	9476264	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.854000	0.48325	2.600000	0.87896	0.655000	0.94253	GGC		0.393	ITGB1BP1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314623.2	NM_004763, NM_022334		5	231	0	0	0	0.184627	0	5	231					T	9558813	C	T	9558813	3	4	178	1	0	0	0	0	1	0	0	0	7891	739	26	3	612	3	ITGB1BP1	2	9558813	Missense_Mutation	SNP	C	TCGA-G9-6494-01A-11D-1786-08		9558813	233640560	6	8358											
SIX2	10736	broad.mit.edu	37	chr2	45233549	45233549	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gatggagtcttctcatcctcCgagctgcctaacaccgactt	8	11	8	14	2	2	0	1	0	2	0	5	4	4	1	4	1	3	1	4	1	1	3	rs371909390		TCGA-G9-6494-01A-11D-1786-08	TCGA-G9-6494-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d67b53-8534-402e-b082-1b75ec2aff1e	2821a5f1-f23f-467c-aa21-b9a0f8d623d8	g.chr2:45233549C>T	ENST00000303077.6	-	2	955	c.636G>A	c.(634-636)tcG>tcA	p.S212S		NM_016932.4	NP_058628.3	Q9NPC8	SIX2_HUMAN	SIX homeobox 2	212					anatomical structure morphogenesis (GO:0009653)|anterior/posterior axis specification (GO:0009948)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|chondrocyte differentiation (GO:0002062)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic digestive tract morphogenesis (GO:0048557)|kidney development (GO:0001822)|mesenchymal cell differentiation involved in kidney development (GO:0072161)|mesenchymal stem cell maintenance involved in nephron morphogenesis (GO:0072038)|mesenchymal stem cell proliferation (GO:0097168)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|mesodermal cell fate specification (GO:0007501)|middle ear morphogenesis (GO:0042474)|nephron development (GO:0072006)|nephron morphogenesis (GO:0072028)|positive regulation of chondrocyte proliferation (GO:1902732)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein import into nucleus (GO:0006606)|regulation of branching involved in ureteric bud morphogenesis (GO:0090189)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.S212S(2)		endometrium(6)|large_intestine(3)|lung(8)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	22		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				TCTCATCCTCCGAGCTGCCTA	0.632																																						ENST00000303077.6																			2	Substitution - coding silent(2)	p.S212S(2)	prostate(1)|lung(1)	endometrium(6)|large_intestine(3)|lung(8)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	22						c.(634-636)tcG>tcA		SIX homeobox 2		C		1,4405	2.1+/-5.4	0,1,2202	120	118	119		636	-9.1	0.6	2		119	0,8600		0,0,4300	no	coding-synonymous	SIX2	NM_016932.4		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		212/292	45233549	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	10736					nucleus	sequence-specific DNA binding transcription factor activity	g.chr2:45233549C>T	AF136939	CCDS1822.1	2p21	2011-06-20	2007-07-13		ENSG00000170577	ENSG00000170577		"Homeoboxes / SINE class"	10888	protein-coding gene	gene with protein product		604994	"sine oculis homeobox (Drosophila) homolog 2", "sine oculis homeobox homolog 2 (Drosophila)"				Standard	NM_016932		Approved		uc002ruo.3	Q9NPC8	OTTHUMG00000152421	ENST00000303077.6:c.636G>A	2.37:g.45233549C>T							p.S212S	NM_016932.4	NP_058628.3	Q9NPC8	SIX2_HUMAN			2	955	-		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	212					Q9BXH7	Silent	SNP	ENST00000303077.6	37	c.636G>A	CCDS1822.1																																																																																				0.632	SIX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326188.2			39	105	0	0	0	0.104719	0	39	105					T	45233549	C	T	45233549	2	4	178	1	0	0	0	0	0	0	0	1	14347	639	23	2		2	SIX2	2	45233549	Silent	SNP	C	TCGA-G9-6494-01A-11D-1786-08	35674736	45233549	197965824	7	8359											
SPEG	10290	broad.mit.edu	37	chr2	220331957	220331957	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caggacgtggacgtgggggcCggggagatggcgctgtttga	6	7	21	7	4	0	2	0	1	0	1	0	5	0	4	1	7	0	2	1	7	0	1	rs372494202	byFrequency	TCGA-G9-6494-01A-11D-1786-08	TCGA-G9-6494-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d67b53-8534-402e-b082-1b75ec2aff1e	2821a5f1-f23f-467c-aa21-b9a0f8d623d8	g.chr2:220331957C>T	ENST00000312358.7	+	10	3075	c.2943C>T	c.(2941-2943)gcC>gcT	p.A981A	SPEG_ENST00000485813.1_3'UTR	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	981	Ig-like 4.				cardiac muscle cell development (GO:0055013)|in utero embryonic development (GO:0001701)|muscle organ development (GO:0007517)|negative regulation of cell proliferation (GO:0008285)|respiratory system development (GO:0060541)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.A981A(2)		breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		ACGTGGGGGCCGGGGAGATGG	0.692											OREG0004000	type=REGULATORY REGION|Gene=APEG1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	C|||	4	0.000798722	0	0	5008	,	,		16003	0		0.001	False		,,,				2504	0.0031					ENST00000312358.7																			2	Substitution - coding silent(2)	p.A981A(2)	prostate(2)	breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100						c.(2941-2943)gcC>gcT		SPEG complex locus		C		0,4014		0,0,2007	58	70	66		2943	3.9	1	2		66	4,8272		0,4,4134	no	coding-synonymous	SPEG	NM_005876.4		0,4,6141	TT,TC,CC		0.0483,0.0,0.0325		981/3268	220331957	4,12286	2007	4138	6145	SO:0001819	synonymous_variant	10290				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity	g.chr2:220331957C>T	BC006346	CCDS42824.1, CCDS54432.1	2q35	2013-01-11	2006-04-27	2006-04-27	ENSG00000072195	ENSG00000072195		"Immunoglobulin superfamily / I-set domain containing"	16901	protein-coding gene	gene with protein product		615950	"aortic preferentially expressed gene 1"	APEG1		8663449, 10973969	Standard	NM_005876		Approved	MGC12676, KIAA1297, SPEGalpha, SPEGbeta, BPEG	uc010fwg.3	Q15772	OTTHUMG00000058925	ENST00000312358.7:c.2943C>T	2.37:g.220331957C>T			OREG0004000	type=REGULATORY REGION|Gene=APEG1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	2265	SPEG_ENST00000485813.1_3'UTR	p.A981A	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)	10	3075	+		Renal(207;0.0183)	981			Ig-like 4.		A8K0G6|A8MRU0|Q27J74|Q695L1|Q6FGA6|Q6ZQW1|Q6ZTL8|Q9P2P9	Silent	SNP	ENST00000312358.7	37	c.2943C>T	CCDS42824.1																																																																																				0.692	SPEG-004	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130252.2	NM_005876		57	104	0	0	0	0.139131	0	57	104					T	220331957	C	T	220331957	2	4	178	1	0	0	0	0	0	0	0	1	15035	639	23	2		2	SPEG	2	220331957	Silent	SNP	C	TCGA-G9-6494-01A-11D-1786-08	175098408	220331957	22867416	8	8360											
DCBLD2	131566	broad.mit.edu	37	chr3	98519475	98519475	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tctcttggactcaggtgattAacttcgctgctgctatagcg	7	14	10	10	2	2	1	1	1	1	0	4	2	2	2	0	2	4	3	0	2	3	5			TCGA-G9-6494-01A-11D-1786-08	TCGA-G9-6494-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d67b53-8534-402e-b082-1b75ec2aff1e	2821a5f1-f23f-467c-aa21-b9a0f8d623d8	g.chr3:98519475A>C	ENST00000326840.6	-	15	2168	c.1806T>G	c.(1804-1806)gtT>gtG	p.V602V	DCBLD2_ENST00000326857.9_Silent_p.V616V	NM_080927.3	NP_563615.3	Q96PD2	DCBD2_HUMAN	discoidin, CUB and LCCL domain containing 2	602					cell adhesion (GO:0007155)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of cell growth (GO:0030308)|wound healing (GO:0042060)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)		p.V602V(1)		breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|stomach(2)	25						TCAGGTGATTAACTTCGCTGC	0.507																																						ENST00000326840.6																			1	Substitution - coding silent(1)	p.V602V(1)	prostate(1)	breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|stomach(2)	25						c.(1804-1806)gtT>gtG		discoidin, CUB and LCCL domain containing 2							216	212	213					3																	98519475		2061	4202	6263	SO:0001819	synonymous_variant	131566				cell adhesion|intracellular receptor mediated signaling pathway|negative regulation of cell growth|wound healing	cell surface|integral to plasma membrane		g.chr3:98519475A>C		CCDS46878.1	3q12.2	2006-04-12			ENSG00000057019	ENSG00000057019			24627	protein-coding gene	gene with protein product		608698				11447234	Standard	NM_080927		Approved	CLCP1, ESDN	uc003dtd.3	Q96PD2	OTTHUMG00000151985	ENST00000326840.6:c.1806T>G	3.37:g.98519475A>C						DCBLD2_ENST00000326857.9_Silent_p.V616V	p.V602V	NM_080927.3	NP_563615.3	Q96PD2	DCBD2_HUMAN			15	2168	-			602					B7WNL1|D3DN41|Q8N6M4|Q8TDX2	Silent	SNP	ENST00000326840.6	37	c.1806T>G	CCDS46878.1																																																																																				0.507	DCBLD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324675.2	NM_080927		3	153	0	0	0	0.115264	0	3	153					C	98519475	A	C	98519475	2	2	178	1	0	0	0	0	0	0	0	1	4281	349	13	5		5	DCBLD2	3	98519475	Silent	SNP	A	TCGA-G9-6494-01A-11D-1786-08		98519475	99502955	9	8361											
PFN2	5217	broad.mit.edu	37	chr3	149686232	149686232	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cattgtgcagtcaccatcgaCgtatagactatctctgatca	11	12	7	11	2	3	2	2	1	1	1	5	3	3	2	1	0	1	2	1	0	3	4			TCGA-G9-6494-01A-11D-1786-08	TCGA-G9-6494-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d67b53-8534-402e-b082-1b75ec2aff1e	2821a5f1-f23f-467c-aa21-b9a0f8d623d8	g.chr3:149686232C>A	ENST00000239940.7	-	2	490	c.238G>T	c.(238-240)Gtc>Ttc	p.V80F	PFN2_ENST00000494827.1_Missense_Mutation_p.V31F|PFN2_ENST00000497148.1_Missense_Mutation_p.V31F|PFN2_ENST00000475518.1_Missense_Mutation_p.V31F|PFN2_ENST00000423691.2_Missense_Mutation_p.V80F|PFN2_ENST00000481767.1_Missense_Mutation_p.V31F|PFN2_ENST00000490975.1_Missense_Mutation_p.V80F|PFN2_ENST00000461930.1_3'UTR|PFN2_ENST00000498307.1_Missense_Mutation_p.V31F|PFN2_ENST00000461868.1_Missense_Mutation_p.V80F|PFN2_ENST00000452853.2_Missense_Mutation_p.V80F|PFN2_ENST00000489155.1_Missense_Mutation_p.V31F|PFN2_ENST00000481275.1_Missense_Mutation_p.V31F|AC117395.1_ENST00000593416.1_5'Flank			P35080	PROF2_HUMAN	profilin 2	80					actin cytoskeleton organization (GO:0030036)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of ruffle assembly (GO:1900028)|positive regulation of actin filament bundle assembly (GO:0032233)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of ATPase activity (GO:0032781)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|regulation of synaptic vesicle exocytosis (GO:2000300)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|terminal bouton (GO:0043195)	actin monomer binding (GO:0003785)|adenyl-nucleotide exchange factor activity (GO:0000774)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)	p.V80F(2)		large_intestine(1)|lung(4)|ovary(1)|prostate(1)	7			LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)			TCACCATCGACGTATAGACTA	0.473																																						ENST00000239940.7																			2	Substitution - Missense(2)	p.V80F(2)	prostate(2)	large_intestine(1)|lung(4)|ovary(1)|prostate(1)	7						c.(238-240)Gtc>Ttc		profilin 2							239	244	242					3																	149686232		2203	4300	6503	SO:0001583	missense	5217				actin cytoskeleton organization|regulation of actin polymerization or depolymerization	actin cytoskeleton|cytoplasm	actin binding|phosphatidylinositol-4,5-bisphosphate binding	g.chr3:149686232C>A	L10678	CCDS3148.1, CCDS46934.1	3q25.1	2006-10-16			ENSG00000070087	ENSG00000070087			8882	protein-coding gene	gene with protein product		176590				8975700, 8365484	Standard	NM_002628		Approved		uc003ext.1	P35080	OTTHUMG00000159683	ENST00000239940.7:c.238G>T	3.37:g.149686232C>A	ENSP00000239940:p.Val80Phe					PFN2_ENST00000497148.1_Missense_Mutation_p.V31F|PFN2_ENST00000475518.1_Missense_Mutation_p.V31F|PFN2_ENST00000498307.1_Missense_Mutation_p.V31F|PFN2_ENST00000494827.1_Missense_Mutation_p.V31F|PFN2_ENST00000481767.1_Missense_Mutation_p.V31F|PFN2_ENST00000490975.1_Missense_Mutation_p.V80F|PFN2_ENST00000489155.1_Missense_Mutation_p.V31F|PFN2_ENST00000452853.2_Missense_Mutation_p.V80F|PFN2_ENST00000481275.1_Missense_Mutation_p.V31F|PFN2_ENST00000423691.2_Missense_Mutation_p.V80F|PFN2_ENST00000461868.1_Missense_Mutation_p.V80F|PFN2_ENST00000461930.1_3'UTR	p.V80F			P35080	PROF2_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)		2	490	-			80					B2R4C8|D3DNI4|Q4VBQ4|Q8WVF9|Q9HBK2	Missense_Mutation	SNP	ENST00000239940.7	37	c.238G>T	CCDS3148.1	.	.	.	.	.	.	.	.	.	.	.	19.29	3.798517	0.70567	.	.	ENSG00000070087	ENST00000452853;ENST00000239940;ENST00000423691;ENST00000481767;ENST00000494827;ENST00000490975;ENST00000497148;ENST00000475518;ENST00000481275;ENST00000498307;ENST00000489155;ENST00000461868	D;D;D;D;D;D;D;D;D;D;D;D	0.87029	-2.14;-2.14;-2.2;-2.18;-2.18;-2.07;-2.18;-2.18;-2.18;-2.18;-2.18;-2.08	5.28	5.28	0.74379	.	0.308452	0.34802	N	0.003661	D	0.89556	0.6749	L	0.52573	1.65	0.36053	D	0.840911	D;D;P;P	0.62365	0.974;0.991;0.938;0.853	P;P;B;B	0.60117	0.672;0.869;0.439;0.266	D	0.92039	0.5639	10	0.56958	D	0.05	.	12.2831	0.54776	0.0:0.9221:0.0:0.0779	.	80;274;80;31	G5E9Q6;D3DNI2;P35080;C9J0J7	.;.;PROF2_HUMAN;.	F	80;80;80;31;31;80;31;31;31;31;31;80	ENSP00000410464:V80F;ENSP00000239940:V80F;ENSP00000408283:V80F;ENSP00000420417:V31F;ENSP00000418523:V31F;ENSP00000417351:V80F;ENSP00000417817:V31F;ENSP00000418142:V31F;ENSP00000418216:V31F;ENSP00000420202:V31F;ENSP00000420504:V31F;ENSP00000420244:V80F	ENSP00000239940:V80F	V	-	1	0	PFN2	151168922	0.972000	0.33761	0.972000	0.41901	0.972000	0.66771	2.761000	0.47589	2.444000	0.82710	0.655000	0.94253	GTC		0.473	PFN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356873.2	NM_002628		70	190	1	0	3.13743e-37	0.139131	3.75371e-37	70	190					A	149686232	C	A	149686232	3	1	178	1	0	0	0	0	1	0	0	0	11768	536	19	5	294	5	PFN2	3	149686232	Missense_Mutation	SNP	C	TCGA-G9-6494-01A-11D-1786-08	51166757	149686232	48336198	10	8362											
BMP2K	55589	broad.mit.edu	37	chr4	79786791	79786791	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caactctgctactactgccaCtcccagtgtgctgaccattc	8	11	6	16	0	1	1	0	1	1	0	3	1	2	1	3	0	6	2	3	0	3	3			TCGA-G9-6494-01A-11D-1786-08	TCGA-G9-6494-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d67b53-8534-402e-b082-1b75ec2aff1e	2821a5f1-f23f-467c-aa21-b9a0f8d623d8	g.chr4:79786791C>T	ENST00000335016.5	+	10	1314	c.1148C>T	c.(1147-1149)aCt>aTt	p.T383I	BMP2K_ENST00000502871.1_Missense_Mutation_p.T383I	NM_198892.1	NP_942595.1	Q9NSY1	BMP2K_HUMAN	BMP2 inducible kinase	383					regulation of bone mineralization (GO:0030500)	nucleus (GO:0005634)	ATP binding (GO:0005524)|phosphatase regulator activity (GO:0019208)|protein serine/threonine kinase activity (GO:0004674)	p.T383I(1)		NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	13						ACTACTGCCACTCCCAGTGTG	0.443																																						ENST00000335016.5																			1	Substitution - Missense(1)	p.T383I(1)	prostate(1)	NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	13						c.(1147-1149)aCt>aTt		BMP2 inducible kinase							127	113	118					4																	79786791		2203	4300	6503	SO:0001583	missense	55589					nucleus	ATP binding|protein serine/threonine kinase activity	g.chr4:79786791C>T	AB015331	CCDS34019.1, CCDS47083.1	4q21.21	2008-05-15			ENSG00000138756	ENSG00000138756			18041	protein-coding gene	gene with protein product							Standard	NM_017593		Approved	DKFZp434K0614, BIKe	uc003hlk.3	Q9NSY1	OTTHUMG00000160900	ENST00000335016.5:c.1148C>T	4.37:g.79786791C>T	ENSP00000334836:p.Thr383Ile					BMP2K_ENST00000502871.1_Missense_Mutation_p.T383I	p.T383I	NM_198892.1	NP_942595.1	Q9NSY1	BMP2K_HUMAN			10	1314	+			383					O94791|Q4W5H2|Q8IYF2|Q8N2G7|Q8NHG9|Q9NTG8	Missense_Mutation	SNP	ENST00000335016.5	37	c.1148C>T	CCDS47083.1	.	.	.	.	.	.	.	.	.	.	C	14.69	2.610139	0.46527	.	.	ENSG00000138756	ENST00000502871;ENST00000335016;ENST00000264889	T;T	0.72505	1.88;-0.66	5.06	4.2	0.49525	.	0.845098	0.10615	N	0.653969	T	0.58481	0.2125	N	0.13235	0.315	0.28662	N	0.90608	B;B	0.22414	0.069;0.025	B;B	0.27076	0.076;0.032	T	0.54159	-0.8335	10	0.42905	T	0.14	-2.6334	14.1684	0.65493	0.0:0.9263:0.0:0.0737	.	383;383	Q9NSY1;Q4W5H2	BMP2K_HUMAN;.	I	383;383;397	ENSP00000421768:T383I;ENSP00000334836:T383I	ENSP00000264889:T397I	T	+	2	0	BMP2K	80005815	1.000000	0.71417	0.920000	0.36463	0.941000	0.58515	2.443000	0.44881	1.235000	0.43724	0.655000	0.94253	ACT		0.443	BMP2K-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_017593		15	69	0	0	0	0.146539	0	15	69					T	79786791	C	T	79786791	3	4	178	1	0	0	0	0	1	0	0	0	1460	565	20	3	1186	3	BMP2K	4	79786791	Missense_Mutation	SNP	C	TCGA-G9-6494-01A-11D-1786-08		79786791	111367485	11	8363											
SKIV2L2	23517	broad.mit.edu	37	chr5	54642959	54642959	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gcacttcaaatgaccaaattAgatttcaacacaggtactac	16	10	5	10	0	2	2	2	1	0	1	2	2	2	2	1	1	3	2	1	1	6	5			TCGA-G9-6494-01A-11D-1786-08	TCGA-G9-6494-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d67b53-8534-402e-b082-1b75ec2aff1e	2821a5f1-f23f-467c-aa21-b9a0f8d623d8	g.chr5:54642959A>C	ENST00000230640.5	+	11	1481	c.1227A>C	c.(1225-1227)ttA>ttC	p.L409F	SKIV2L2_ENST00000545714.1_Missense_Mutation_p.L308F	NM_015360.4	NP_056175.3	P42285	SK2L2_HUMAN	superkiller viralicidic activity 2-like 2 (S. cerevisiae)	409	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				maturation of 5.8S rRNA (GO:0000460)|mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)	p.L409F(1)		NS(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|lung(12)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Lung NSC(810;0.000744)|Breast(144;0.181)|Prostate(74;0.194)				TGACCAAATTAGATTTCAACA	0.269																																					Melanoma(2;92 134 23744 29976 33782)	ENST00000230640.5																			1	Substitution - Missense(1)	p.L409F(1)	prostate(1)	NS(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|lung(12)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						c.(1225-1227)ttA>ttC		superkiller viralicidic activity 2-like 2 (S. cerevisiae)							85	91	89					5																	54642959		2203	4295	6498	SO:0001583	missense	23517				maturation of 5.8S rRNA	catalytic step 2 spliceosome|nucleolus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding	g.chr5:54642959A>C	D29641	CCDS3967.1	5q11.2	2008-11-25	2005-02-18	2005-02-18	ENSG00000039123	ENSG00000039123			18734	protein-coding gene	gene with protein product	"functional spliceosome-associated protein 118"		"KIAA0052"	KIAA0052			Standard	NM_015360		Approved	Mtr4, Dob1, fSAP118	uc003jpy.4	P42285	OTTHUMG00000097019	ENST00000230640.5:c.1227A>C	5.37:g.54642959A>C	ENSP00000230640:p.Leu409Phe					SKIV2L2_ENST00000545714.1_Missense_Mutation_p.L308F	p.L409F	NM_015360.4	NP_056175.3	P42285	SK2L2_HUMAN			11	1481	+		Lung NSC(810;0.000744)|Breast(144;0.181)|Prostate(74;0.194)	409			Helicase C-terminal.		Q2M386|Q6MZZ8|Q6P170|Q8N5R0|Q8TAG2	Missense_Mutation	SNP	ENST00000230640.5	37	c.1227A>C	CCDS3967.1	.	.	.	.	.	.	.	.	.	.	A	14.23	2.473329	0.43942	.	.	ENSG00000039123	ENST00000230640;ENST00000545714	T;T	0.42513	0.97;0.97	5.73	3.38	0.38709	Helicase, C-terminal (1);	0.000000	0.64402	D	0.000001	T	0.41373	0.1156	M	0.67625	2.065	0.58432	D	0.999999	B;B	0.26318	0.146;0.054	B;B	0.31337	0.128;0.068	T	0.28808	-1.0032	10	0.59425	D	0.04	-8.1629	8.0593	0.30623	0.7065:0.0:0.2935:0.0	.	308;409	F5H7E2;P42285	.;SK2L2_HUMAN	F	409;308	ENSP00000230640:L409F;ENSP00000442583:L308F	ENSP00000230640:L409F	L	+	3	2	SKIV2L2	54678716	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	0.768000	0.26590	0.463000	0.27118	0.528000	0.53228	TTA		0.269	SKIV2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214108.1			27	68	0	0	0	0.125774	0	27	68					C	54642959	A	C	54642959	3	2	178	1	0	0	0	0	1	0	0	0	14360	417	15	5	1269	5	SKIV2L2	5	54642959	Missense_Mutation	SNP	A	TCGA-G9-6494-01A-11D-1786-08		54642959	126272301	12	8364											
ZNF366	167465	broad.mit.edu	37	chr5	71756812	71756812	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ggtagtaggggtagggcgtgGgcaggaatggagtgggcgtt	7	8	23	3	2	0	0	0	0	0	0	0	2	0	2	0	8	0	5	0	8	4	4			TCGA-G9-6494-01A-11D-1786-08	TCGA-G9-6494-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d67b53-8534-402e-b082-1b75ec2aff1e	2821a5f1-f23f-467c-aa21-b9a0f8d623d8	g.chr5:71756812G>A	ENST00000318442.5	-	2	1002	c.512C>T	c.(511-513)cCc>cTc	p.P171L		NM_152625.1	NP_689838.1	Q8N895	ZN366_HUMAN	zinc finger protein 366	171					negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|estrogen receptor binding (GO:0030331)|metal ion binding (GO:0046872)|transcription corepressor activity (GO:0003714)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	35		Lung NSC(167;0.0247)|Ovarian(174;0.0908)|Prostate(461;0.155)		OV - Ovarian serous cystadenocarcinoma(47;2.51e-53)		GTAGGGCGTGGGCAGGAATGG	0.642																																						ENST00000318442.5																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	35						c.(511-513)cCc>cTc		zinc finger protein 366							102	108	106					5																	71756812		2203	4300	6503	SO:0001583	missense	0				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr5:71756812G>A	AK097115	CCDS4015.1	5q13.1	2013-01-08			ENSG00000178175	ENSG00000178175		"Zinc fingers, C2H2-type"	18316	protein-coding gene	gene with protein product		610159					Standard	NM_152625		Approved	FLJ39796	uc003kce.1	Q8N895	OTTHUMG00000100965	ENST00000318442.5:c.512C>T	5.37:g.71756812G>A	ENSP00000313158:p.Pro171Leu						p.P171L	NM_152625.1	NP_689838.1	Q8N895	ZN366_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;2.51e-53)	2	1002	-		Lung NSC(167;0.0247)|Ovarian(174;0.0908)|Prostate(461;0.155)	171					Q5HYI9|Q7RTV4	Missense_Mutation	SNP	ENST00000318442.5	37	c.512C>T	CCDS4015.1	.	.	.	.	.	.	.	.	.	.	G	9.033	0.987829	0.18966	.	.	ENSG00000178175	ENST00000318442	T	0.08546	3.08	5.92	5.92	0.95590	.	0.193133	0.37669	N	0.001993	T	0.05868	0.0153	L	0.27053	0.805	0.45452	D	0.99842	P	0.38922	0.651	B	0.29942	0.109	T	0.48490	-0.9031	10	0.26408	T	0.33	-36.7853	13.2389	0.59985	0.0:0.0:0.7387:0.2613	.	171	Q8N895	ZN366_HUMAN	L	171	ENSP00000313158:P171L	ENSP00000313158:P171L	P	-	2	0	ZNF366	71792568	1.000000	0.71417	0.894000	0.35097	0.067000	0.16453	4.815000	0.62634	2.813000	0.96785	0.561000	0.74099	CCC		0.642	ZNF366-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218574.3			5	182	0	0	0	0.021553	0	5	182					A	71756812	G	A	71756812	3	1	178	1	0	0	0	0	1	0	0	0	17867	1232	43	3	1738	3	ZNF366	5	71756812	Missense_Mutation	SNP	G	TCGA-G9-6494-01A-11D-1786-08	17113853	71756812	109158448	13	8365											
RWDD2A	112611	broad.mit.edu	37	chr6	83905528	83905528	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atcttatttcctgaacagaaAgcttgtatatgaaccatcta	14	14	5	8	0	2	3	0	2	2	1	3	3	3	3	2	0	3	2	2	0	7	6			TCGA-G9-6494-01A-11D-1786-08	TCGA-G9-6494-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d67b53-8534-402e-b082-1b75ec2aff1e	2821a5f1-f23f-467c-aa21-b9a0f8d623d8	g.chr6:83905528A>T	ENST00000369724.4	+	3	621	c.416A>T	c.(415-417)aAg>aTg	p.K139M	RWDD2A_ENST00000539997.1_Missense_Mutation_p.K85M|PGM3_ENST00000506587.1_5'Flank|PGM3_ENST00000512866.1_5'Flank|PGM3_ENST00000513973.1_5'Flank|PGM3_ENST00000283977.4_5'Flank	NM_033411.3	NP_219479.2	Q9UIY3	RWD2A_HUMAN	RWD domain containing 2A	139								p.K139M(1)		cervix(1)|large_intestine(1)|lung(1)|prostate(1)|skin(1)	5		all_cancers(76;2.38e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00217)		BRCA - Breast invasive adenocarcinoma(397;0.045)		CTGAACAGAAAGCTTGTATAT	0.433																																						ENST00000369724.4																			1	Substitution - Missense(1)	p.K139M(1)	prostate(1)	cervix(1)|large_intestine(1)|lung(1)|prostate(1)|skin(1)	5						c.(415-417)aAg>aTg		RWD domain containing 2A							141	131	134					6																	83905528		2203	4300	6503	SO:0001583	missense	112611							g.chr6:83905528A>T	BC010930	CCDS4998.1	6q15	2012-12-07	2007-07-17	2007-07-17	ENSG00000013392	ENSG00000013392			21385	protein-coding gene	gene with protein product			"RWD domain containing 2"	RWDD2			Standard	NM_033411		Approved	MGC13523, dJ747H23.2	uc003pjx.4	Q9UIY3	OTTHUMG00000015109	ENST00000369724.4:c.416A>T	6.37:g.83905528A>T	ENSP00000358739:p.Lys139Met					RWDD2A_ENST00000539997.1_Missense_Mutation_p.K85M	p.K139M	NM_033411.3	NP_219479.2	Q9UIY3	RWD2A_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.045)	3	621	+		all_cancers(76;2.38e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00217)	139					B4DIQ3|E1P548|Q2M3R3|Q96FH1	Missense_Mutation	SNP	ENST00000369724.4	37	c.416A>T	CCDS4998.1	.	.	.	.	.	.	.	.	.	.	A	13.97	2.396353	0.42512	.	.	ENSG00000013392	ENST00000369724;ENST00000539997	.	.	.	5.38	4.23	0.50019	.	0.071427	0.56097	D	0.000021	T	0.48677	0.1513	L	0.44542	1.39	0.46298	D	0.998979	P	0.50819	0.939	P	0.54346	0.749	T	0.51834	-0.8655	9	0.49607	T	0.09	-27.6909	11.0994	0.48166	0.9285:0.0:0.0715:0.0	.	139	Q9UIY3	RWD2A_HUMAN	M	139;85	.	ENSP00000358739:K139M	K	+	2	0	RWDD2A	83962247	0.927000	0.31430	0.957000	0.39632	0.068000	0.16541	2.633000	0.46519	1.070000	0.40811	0.533000	0.62120	AAG		0.433	RWDD2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041348.2	NM_033411		42	69	0	0	0	0.11126	0	42	69					T	83905528	A	T	83905528	3	4	178	1	0	0	0	0	1	0	0	0	13755	72	3	5	422	5	RWDD2A	6	83905528	Missense_Mutation	SNP	A	TCGA-G9-6494-01A-11D-1786-08		83905528	87209539	14	8366											
SLC16A10	117247	broad.mit.edu	37	chr6	111498553	111498553	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatggcattgtcactgctggCagcagtgtcttcacaatcct	9	12	9	11	0	3	0	2	0	1	0	4	0	4	0	1	2	2	4	1	2	2	2			TCGA-G9-6494-01A-11D-1786-08	TCGA-G9-6494-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d67b53-8534-402e-b082-1b75ec2aff1e	2821a5f1-f23f-467c-aa21-b9a0f8d623d8	g.chr6:111498553C>T	ENST00000368851.5	+	3	802	c.627C>T	c.(625-627)ggC>ggT	p.G209G	SLC16A10_ENST00000465319.1_3'UTR|SLC16A10_ENST00000368850.3_5'UTR	NM_018593.4	NP_061063.2	Q8TF71	MOT10_HUMAN	solute carrier family 16 (aromatic amino acid transporter), member 10	209					amino acid transport (GO:0006865)|aromatic amino acid transport (GO:0015801)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.G209G(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|prostate(2)	12		all_cancers(87;0.00172)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.0313)|Colorectal(196;0.0466)		OV - Ovarian serous cystadenocarcinoma(136;0.0703)|Epithelial(106;0.12)|all cancers(137;0.132)	Droxidopa(DB06262)|Glycine(DB00145)|L-Alanine(DB00160)|L-Arginine(DB00125)|L-Asparagine(DB00174)|L-Aspartic Acid(DB00128)|L-Cysteine(DB00151)|L-Cystine(DB00138)|L-DOPA(DB01235)|L-Glutamine(DB00130)|L-Histidine(DB00117)|L-Isoleucine(DB00167)|L-Leucine(DB00149)|L-Lysine(DB00123)|L-Methionine(DB00134)|L-Phenylalanine(DB00120)|L-Proline(DB00172)|L-Serine(DB00133)|L-Threonine(DB00156)|L-Tryptophan(DB00150)|L-Tyrosine(DB00135)|L-Valine(DB00161)|Liothyronine(DB00279)|Liotrix(DB01583)|Pyruvic acid(DB00119)	TCACTGCTGGCAGCAGTGTCT	0.498																																						ENST00000368851.5																			1	Substitution - coding silent(1)	p.G209G(1)	prostate(1)	endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|prostate(2)	12						c.(625-627)ggC>ggT		solute carrier family 16 (aromatic amino acid transporter), member 10							129	121	124					6																	111498553		2203	4300	6503	SO:0001819	synonymous_variant	117247				aromatic amino acid transport|cellular nitrogen compound metabolic process|ion transport	basolateral plasma membrane|integral to membrane	amino acid transmembrane transporter activity	g.chr6:111498553C>T	AF116652	CCDS5089.1	6q21-q22	2014-01-28	2013-07-18		ENSG00000112394	ENSG00000112394		"Solute carriers"	17027	protein-coding gene	gene with protein product		607550	"solute carrier family 16 (monocarboxylic acid transporters), member 10"			11278508, 11827462	Standard	NM_018593		Approved	TAT1, MCT10	uc003pus.3	Q8TF71	OTTHUMG00000015371	ENST00000368851.5:c.627C>T	6.37:g.111498553C>T						SLC16A10_ENST00000465319.1_3'UTR|SLC16A10_ENST00000368850.3_5'UTR	p.G209G	NM_018593.4	NP_061063.2	Q8TF71	MOT10_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.0703)|Epithelial(106;0.12)|all cancers(137;0.132)	3	802	+		all_cancers(87;0.00172)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.0313)|Colorectal(196;0.0466)	209					B3KWY0|Q6ZMG0|Q8WVI5	Silent	SNP	ENST00000368851.5	37	c.627C>T	CCDS5089.1	.	.	.	.	.	.	.	.	.	.	C	9.016	0.983806	0.18889	.	.	ENSG00000112394	ENST00000419619;ENST00000439288	.	.	.	5.22	4.35	0.52113	.	.	.	.	.	T	0.59595	0.2205	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.60954	-0.7160	4	.	.	.	.	13.8201	0.63315	0.0:0.9259:0.0:0.0741	.	.	.	.	V	95	.	.	A	+	2	0	SLC16A10	111605246	1.000000	0.71417	1.000000	0.80357	0.907000	0.53573	4.577000	0.60922	1.310000	0.45006	0.563000	0.77884	GCA		0.498	SLC16A10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041822.2			28	78	0	0	0	0.125774	0	28	78					T	111498553	C	T	111498553	2	4	178	1	0	0	0	0	0	0	0	1	14403	697	25	3		3	SLC16A10	6	111498553	Silent	SNP	C	TCGA-G9-6494-01A-11D-1786-08	27593025	111498553	59616514	15	8367											
TNFAIP3	7128	broad.mit.edu	37	chr6	138197133	138197133	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttctctttctttgaacagAcaaaatgctaagaagtttgg	12	15	7	7	0	2	3	0	1	2	2	3	3	2	3	0	1	2	2	0	1	5	5			TCGA-G9-6494-01A-11D-1786-08	TCGA-G9-6494-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d67b53-8534-402e-b082-1b75ec2aff1e	2821a5f1-f23f-467c-aa21-b9a0f8d623d8	g.chr6:138197133A>G	ENST00000237289.4	+	5	701	c.635A>G	c.(634-636)gAc>gGc	p.D212G	TNFAIP3_ENST00000485192.1_3'UTR	NM_001270507.1|NM_001270508.1|NM_006290.3	NP_001257436.1|NP_001257437.1|NP_006281.1	P21580	TNAP3_HUMAN	tumor necrosis factor, alpha-induced protein 3	212	OTU. {ECO:0000255|PROSITE- ProRule:PRU00139}.|TRAF-binding.				apoptotic process (GO:0006915)|B-1 B cell homeostasis (GO:0001922)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to lipopolysaccharide (GO:0071222)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|negative regulation of B cell activation (GO:0050869)|negative regulation of bone resorption (GO:0045779)|negative regulation of CD40 signaling pathway (GO:2000349)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of inflammatory response (GO:0050728)|negative regulation of innate immune response (GO:0045824)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of osteoclast proliferation (GO:0090291)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of smooth muscle cell proliferation (GO:0048662)|negative regulation of toll-like receptor 2 signaling pathway (GO:0034136)|negative regulation of toll-like receptor 3 signaling pathway (GO:0034140)|negative regulation of toll-like receptor 4 signaling pathway (GO:0034144)|negative regulation of tumor necrosis factor production (GO:0032720)|negative regulation of type I interferon production (GO:0032480)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of protein catabolic process (GO:0045732)|protein deubiquitination (GO:0016579)|protein K11-linked deubiquitination (GO:0035871)|protein K48-linked deubiquitination (GO:0071108)|protein K48-linked ubiquitination (GO:0070936)|protein K63-linked deubiquitination (GO:0070536)|protein oligomerization (GO:0051259)|regulation of defense response to virus by host (GO:0050691)|regulation of germinal center formation (GO:0002634)|regulation of vascular wound healing (GO:0061043)|response to molecule of bacterial origin (GO:0002237)|tolerance induction to lipopolysaccharide (GO:0072573)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|protease binding (GO:0002020)|protein self-association (GO:0043621)|ubiquitin binding (GO:0043130)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-protein transferase activity (GO:0004842)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)	p.0?(25)|p.D212G(1)		breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(196)|kidney(1)|large_intestine(4)|lung(13)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	225	Breast(32;0.135)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000849)|OV - Ovarian serous cystadenocarcinoma(155;0.00468)		CTTTGAACAGACAAAATGCTA	0.438			"D, N, F"		"marginal zone B-cell lymphomas, Hodgkin's lymphoma, primary mediastinal B cell lymphoma"																																GBM(130;153 1739 22295 28918 47987)	ENST00000237289.4				Rec	yes		6	6q23	7128	"D, N, F"	"tumor necrosis factor, alpha-induced protein 3"			L			"marginal zone B-cell lymphomas, Hodgkin's lymphoma, primary mediastinal B cell lymphoma"		26	Whole gene deletion(25)|Substitution - Missense(1)	p.0?(25)|p.D212G(1)	haematopoietic_and_lymphoid_tissue(25)|prostate(1)	breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(196)|kidney(1)|large_intestine(4)|lung(13)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	225						c.e5-1		tumor necrosis factor, alpha-induced protein 3							84	90	88					6																	138197133		2203	4300	6503	SO:0001630	splice_region_variant	7128				anti-apoptosis|apoptosis|B-1 B cell homeostasis|negative regulation of B cell activation|negative regulation of bone resorption|negative regulation of CD40 signaling pathway|negative regulation of endothelial cell apoptosis|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of inflammatory response|negative regulation of interleukin-2 production|negative regulation of interleukin-6 production|negative regulation of NF-kappaB transcription factor activity|negative regulation of osteoclast proliferation|negative regulation of protein ubiquitination|negative regulation of smooth muscle cell proliferation|negative regulation of toll-like receptor 2 signaling pathway|negative regulation of toll-like receptor 3 signaling pathway|negative regulation of tumor necrosis factor production|negative regulation of type I interferon production|positive regulation of protein catabolic process|protein K48-linked ubiquitination|protein K63-linked deubiquitination|protein oligomerization|regulation of defense response to virus by host|regulation of germinal center formation|regulation of vascular wound healing|tolerance induction to lipopolysaccharide	centrosome|cytosol|nucleus	caspase inhibitor activity|DNA binding|protease binding|protein self-association|ubiquitin binding|ubiquitin thiolesterase activity|ubiquitin-protein ligase activity|ubiquitin-specific protease activity|zinc ion binding	g.chr6:138197133A>G	M59465	CCDS5187.1	6q23-q25	2013-01-21			ENSG00000118503	ENSG00000118503		"OTU domain containing"	11896	protein-coding gene	gene with protein product		191163				2118515	Standard	NM_006290		Approved	A20, OTUD7C	uc031spw.1	P21580	OTTHUMG00000015664	ENST00000237289.4:c.635-1A>G	6.37:g.138197133A>G						TNFAIP3_ENST00000485192.1_3'UTR	p.D212_splice	NM_001270507.1|NM_001270508.1|NM_006290.3	NP_001257436.1|NP_001257437.1|NP_006281.1	P21580	TNAP3_HUMAN		GBM - Glioblastoma multiforme(68;0.000849)|OV - Ovarian serous cystadenocarcinoma(155;0.00468)	5	701	+	Breast(32;0.135)|Colorectal(23;0.24)		212			OTU.|TRAF-binding.		B2R767|E1P588|Q2HIX9|Q5VXQ7|Q9NSR6	Splice_Site	SNP	ENST00000237289.4	37	c.634_splice	CCDS5187.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	27.8|27.8	4.867637|4.867637	0.91587|0.91587	.|.	.|.	ENSG00000118503|ENSG00000118503	ENST00000237289;ENST00000535574;ENST00000535332;ENST00000544646|ENST00000539356	T|.	0.27890|.	1.64|.	5.92|5.92	5.92|5.92	0.95590|0.95590	Ovarian tumour, otubain (2);|.	0.046228|.	0.85682|.	D|.	0.000000|.	T|T	0.72236|0.72236	0.3435|0.3435	M|M	0.80183|0.80183	2.485|2.485	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.97110|.	1.0|.	T|T	0.77469|0.77469	-0.2576|-0.2576	10|6	0.87932|0.87932	D|D	0|0	.|.	14.9203|14.9203	0.70832|0.70832	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	212|.	P21580|.	TNAP3_HUMAN|.	G|A	212|212	ENSP00000237289:D212G|.	ENSP00000237289:D212G|ENSP00000439665:T212A	D|T	+|+	2|1	0|0	TNFAIP3|TNFAIP3	138238826|138238826	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.982000|0.982000	0.71751|0.71751	8.604000|8.604000	0.90877|0.90877	2.266000|2.266000	0.75297|0.75297	0.528000|0.528000	0.53228|0.53228	GAC|ACA		0.438	TNFAIP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042414.1		Missense_Mutation	20	78	0	0	0	0.083992	0	20	78					G	138197133	A	G	138197133	5	3	178	1	0	0	0	0	0	0	1	0	16271	289	10	4	649	4	TNFAIP3	6	138197133	Splice_Site	SNP	A	TCGA-G9-6494-01A-11D-1786-08	26698580	138197133	32917934	16	8368											
QKI	9444	broad.mit.edu	37	chr6	163983069	163983069	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gatggagcttgcgattctgaAtggcacctacagagatgcca	11	9	12	9	1	1	2	0	1	1	1	1	6	1	3	2	2	4	2	2	2	2	3			TCGA-G9-6494-01A-11D-1786-08	TCGA-G9-6494-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d67b53-8534-402e-b082-1b75ec2aff1e	2821a5f1-f23f-467c-aa21-b9a0f8d623d8	g.chr6:163983069A>G	ENST00000361752.3	+	5	1153	c.602A>G	c.(601-603)aAt>aGt	p.N201S	QKI_ENST00000275262.7_Missense_Mutation_p.N201S|QKI_ENST00000453779.2_Missense_Mutation_p.N201S|QKI_ENST00000424802.3_Missense_Mutation_p.N201S|QKI_ENST00000392127.2_Missense_Mutation_p.N201S|QKI_ENST00000361195.2_Missense_Mutation_p.N201S	NM_006775.2|NM_206853.2|NM_206854.2|NM_206855.2	NP_006766.1|NP_996735.1|NP_996736.1|NP_996737.1	Q96PU8	QKI_HUMAN	QKI, KH domain containing, RNA binding	201					long-chain fatty acid biosynthetic process (GO:0042759)|mRNA processing (GO:0006397)|mRNA transport (GO:0051028)|muscle cell differentiation (GO:0042692)|myelination (GO:0042552)|positive regulation of gene expression (GO:0010628)|regulation of translation (GO:0006417)|RNA splicing (GO:0008380)|spermatid development (GO:0007286)|vasculogenesis (GO:0001570)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.N201S(2)		central_nervous_system(1)|endometrium(2)|large_intestine(13)|lung(5)|ovary(1)|prostate(3)|urinary_tract(2)	27		Breast(66;5e-05)|Prostate(117;0.0235)|all_neural(5;0.0416)|Ovarian(120;0.0448)|Glioma(2;0.203)		all cancers(1;4.4e-46)|OV - Ovarian serous cystadenocarcinoma(33;6.91e-23)|GBM - Glioblastoma multiforme(1;2.94e-19)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|Kidney(3;0.000199)|KIRC - Kidney renal clear cell carcinoma(3;0.000234)		GCGATTCTGAATGGCACCTAC	0.448																																						ENST00000361752.3																			2	Substitution - Missense(2)	p.N201S(2)	prostate(2)	central_nervous_system(1)|endometrium(2)|large_intestine(13)|lung(5)|ovary(1)|prostate(3)|urinary_tract(2)	27						c.(601-603)aAt>aGt		QKI, KH domain containing, RNA binding							111	104	107					6																	163983069		2203	4300	6503	SO:0001583	missense	9444				mRNA processing|mRNA transport|regulation of translation|RNA splicing	cytoplasm|nucleus|plasma membrane	RNA binding|SH3 domain binding	g.chr6:163983069A>G	AB067798	CCDS5285.1, CCDS5286.1, CCDS5287.1, CCDS43525.1, CCDS75546.1	6q26	2011-09-12	2011-09-12		ENSG00000112531	ENSG00000112531			21100	protein-coding gene	gene with protein product		609590	"quaking homolog, KH domain RNA binding (mouse)"			10535969	Standard	NM_006775		Approved	QK3	uc003qui.3	Q96PU8	OTTHUMG00000015977	ENST00000361752.3:c.602A>G	6.37:g.163983069A>G	ENSP00000355094:p.Asn201Ser					QKI_ENST00000424802.3_Missense_Mutation_p.N201S|QKI_ENST00000392127.2_Missense_Mutation_p.N201S|QKI_ENST00000361195.2_Missense_Mutation_p.N201S|QKI_ENST00000275262.7_Missense_Mutation_p.N201S|QKI_ENST00000453779.2_Missense_Mutation_p.N201S	p.N201S	NM_006775.2|NM_206853.2|NM_206854.2|NM_206855.2	NP_006766.1|NP_996735.1|NP_996736.1|NP_996737.1	Q96PU8	QKI_HUMAN		all cancers(1;4.4e-46)|OV - Ovarian serous cystadenocarcinoma(33;6.91e-23)|GBM - Glioblastoma multiforme(1;2.94e-19)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|Kidney(3;0.000199)|KIRC - Kidney renal clear cell carcinoma(3;0.000234)	5	1153	+		Breast(66;5e-05)|Prostate(117;0.0235)|all_neural(5;0.0416)|Ovarian(120;0.0448)|Glioma(2;0.203)	201					Q2I375|Q5MJQ1|Q969L9|Q96EJ3|Q96KA3|Q96PU6|Q96PU7|Q9P0X6|Q9P0X7|Q9P0X8|Q9P0X9|Q9P0Y0|Q9P0Y1	Missense_Mutation	SNP	ENST00000361752.3	37	c.602A>G	CCDS5285.1	.	.	.	.	.	.	.	.	.	.	A	19.83	3.899523	0.72754	.	.	ENSG00000112531	ENST00000453779;ENST00000275262;ENST00000392127;ENST00000361752;ENST00000361195;ENST00000424802;ENST00000537041;ENST00000544823	T;T;T;T;T;T;T;T	0.16743	2.32;2.32;2.32;2.32;2.32;2.32;2.32;2.32	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	T	0.32406	0.0828	M	0.79475	2.455	0.80722	D	1	D;P;D;D;D;D	0.76494	0.999;0.897;0.997;0.999;0.999;0.997	P;B;P;P;P;P	0.62491	0.871;0.21;0.85;0.903;0.903;0.85	T	0.14896	-1.0456	10	0.87932	D	0	.	15.7655	0.78123	1.0:0.0:0.0:0.0	.	201;201;201;201;201;201	Q96PU8-3;Q96PU8;Q96PU8-5;Q96PU8-9;Q96PU8-6;Q96PU8-8	.;QKI_HUMAN;.;.;.;.	S	201;201;201;201;201;201;146;146	ENSP00000408775:N201S;ENSP00000275262:N201S;ENSP00000375973:N201S;ENSP00000355094:N201S;ENSP00000354867:N201S;ENSP00000408382:N201S;ENSP00000440991:N146S;ENSP00000440599:N146S	ENSP00000275262:N201S	N	+	2	0	QKI	163903059	1.000000	0.71417	0.998000	0.56505	0.999000	0.98932	8.880000	0.92407	2.270000	0.75569	0.528000	0.53228	AAT		0.448	QKI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043016.2	NM_006775		20	41	0	0	0	0.062417	0	20	41					G	163983069	A	G	163983069	3	3	178	1	0	0	0	0	1	0	0	0	12873	101	4	4	620	4	QKI	6	163983069	Missense_Mutation	SNP	A	TCGA-G9-6494-01A-11D-1786-08	25785936	163983069	7131998	17	8369											
HEATR2	54919	broad.mit.edu	37	chr7	796543	796543	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggtgctggcctccgccatgcGgggttgcccccgagaagccc	4	6	15	16	3	0	1	0	0	0	1	1	2	1	1	6	4	4	2	6	4	1	1			TCGA-G9-6494-01A-11D-1786-08	TCGA-G9-6494-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d67b53-8534-402e-b082-1b75ec2aff1e	2821a5f1-f23f-467c-aa21-b9a0f8d623d8	g.chr7:796543G>C	ENST00000297440.6	+	6	1402	c.1382G>C	c.(1381-1383)cGg>cCg	p.R461P	HEATR2_ENST00000313147.5_Missense_Mutation_p.R461P	NM_017802.3	NP_060272.3	Q86Y56	HEAT2_HUMAN	HEAT repeat containing 2	461						cytoplasm (GO:0005737)		p.R461P(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|prostate(4)|skin(1)	22		Ovarian(82;0.0112)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0182)|Epithelial(4;5.48e-17)|OV - Ovarian serous cystadenocarcinoma(56;1.95e-16)|all cancers(6;2.98e-14)		TCCGCCATGCGGGGTTGCCCC	0.622																																						ENST00000297440.6																			1	Substitution - Missense(1)	p.R461P(1)	prostate(1)	breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|prostate(4)|skin(1)	22						c.(1381-1383)cGg>cCg		HEAT repeat containing 2							46	50	48					7																	796543		2203	4300	6503	SO:0001583	missense	54919						protein binding	g.chr7:796543G>C	AL832914, AK000404, NM_017802, AK056233	CCDS34580.1	7p22.3	2014-05-06	2006-05-19		ENSG00000164818	ENSG00000164818			26013	protein-coding gene	gene with protein product		614864				23040496	Standard	NM_017802		Approved	FLJ20397, FLJ31671, FLJ39381, FLJ25564, CILD18	uc010krz.1	Q86Y56	OTTHUMG00000151416	ENST00000297440.6:c.1382G>C	7.37:g.796543G>C	ENSP00000297440:p.Arg461Pro					HEATR2_ENST00000313147.5_Missense_Mutation_p.R461P	p.R461P	NM_017802.3	NP_060272.3	Q86Y56	HEAT2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0182)|Epithelial(4;5.48e-17)|OV - Ovarian serous cystadenocarcinoma(56;1.95e-16)|all cancers(6;2.98e-14)	6	1402	+		Ovarian(82;0.0112)	461					Q69YL1|Q96FI9|Q9NX75	Missense_Mutation	SNP	ENST00000297440.6	37	c.1382G>C	CCDS34580.1	.	.	.	.	.	.	.	.	.	.	G	11.15	1.554543	0.27739	.	.	ENSG00000164818	ENST00000297440;ENST00000313147;ENST00000537862	T;T	0.66638	-0.22;-0.22	5.49	3.62	0.41486	Armadillo-like helical (1);Armadillo-type fold (1);	0.341651	0.27917	N	0.017327	T	0.79435	0.4445	M	0.83483	2.645	0.09310	N	1	D;D	0.64830	0.977;0.994	P;D	0.63381	0.822;0.914	T	0.70835	-0.4764	10	0.44086	T	0.13	-19.4792	11.4648	0.50232	0.1541:0.0:0.8459:0.0	.	461;207	Q86Y56;F5H8D4	HEAT2_HUMAN;.	P	461;461;207	ENSP00000297440:R461P;ENSP00000321451:R461P	ENSP00000297440:R461P	R	+	2	0	HEATR2	763069	0.000000	0.05858	0.047000	0.18901	0.090000	0.18270	0.546000	0.23284	0.626000	0.30322	-1.105000	0.02106	CGG		0.622	HEATR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322542.1	NM_017802		11	84	0	0	0	0.09319	0	11	84					C	796543	G	C	796543	3	2	178	1	0	0	0	0	1	0	0	0	7028	1116	39	5	1404	5	HEATR2	7	796543	Missense_Mutation	SNP	G	TCGA-G9-6494-01A-11D-1786-08		796543	158342120	18	8370											
EVX1	2128	broad.mit.edu	37	chr7	27283058	27283058	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	actgcgccaccgggaacgccGagtaccagcacagcaaaggt	12	3	12	14	4	0	0	0	0	0	0	0	2	0	1	4	2	5	3	4	2	3	1			TCGA-G9-6494-01A-11D-1786-08	TCGA-G9-6494-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d67b53-8534-402e-b082-1b75ec2aff1e	2821a5f1-f23f-467c-aa21-b9a0f8d623d8	g.chr7:27283058G>A	ENST00000496902.4	+	1	895	c.409G>A	c.(409-411)Gag>Aag	p.E137K	EVX1-AS_ENST00000517726.1_RNA|EVX1-AS_ENST00000519218.1_RNA|RP1-170O19.17_ENST00000523608.2_lincRNA|EVX1_ENST00000535619.1_Intron|EVX1-AS_ENST00000519050.1_RNA|EVX1_ENST00000222761.3_Intron			P49640	EVX1_HUMAN	even-skipped homeobox 1	137					embryo development ending in birth or egg hatching (GO:0009792)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter involved in ventral spinal cord interneuron specification (GO:0021913)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.E137K(1)		kidney(1)|liver(1)|lung(10)|prostate(1)|skin(1)	14						CGGGAACGCCGAGTACCAGCA	0.657																																						ENST00000496902.4																			1	Substitution - Missense(1)	p.E137K(1)	prostate(1)	kidney(1)|liver(1)|lung(10)|prostate(1)|skin(1)	14						c.(409-411)Gag>Aag		even-skipped homeobox 1							21	22	22					7																	27283058		2190	4279	6469	SO:0001583	missense	2128					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:27283058G>A		CCDS5413.1	7p15.2	2012-03-09	2007-02-15		ENSG00000106038	ENSG00000106038		"Homeoboxes / ANTP class : HOXL subclass"	3506	protein-coding gene	gene with protein product		142996	"eve, even-skipped homeobox homolog 1 (Drosophila)"			1684419	Standard	XM_005249640		Approved		uc003szd.1	P49640	OTTHUMG00000023093	ENST00000496902.4:c.409G>A	7.37:g.27283058G>A	ENSP00000419266:p.Glu137Lys					EVX1-AS_ENST00000517726.1_RNA|EVX1_ENST00000222761.3_Intron|EVX1-AS_ENST00000519218.1_RNA|EVX1_ENST00000535619.1_Intron	p.E137K			P49640	EVX1_HUMAN			1	895	+			137					A4D199|B4DQJ0	Missense_Mutation	SNP	ENST00000496902.4	37	c.409G>A	CCDS5413.1	.	.	.	.	.	.	.	.	.	.	G	15.61	2.883046	0.51908	.	.	ENSG00000106038	ENST00000496902	D	0.91521	-2.86	5.38	5.38	0.77491	.	0.076854	0.53938	D	0.000052	D	0.86447	0.5935	L	0.57536	1.79	0.80722	D	1	P	0.38597	0.639	B	0.26864	0.074	D	0.85212	0.1021	10	0.12766	T	0.61	-17.2371	19.1196	0.93357	0.0:0.0:1.0:0.0	.	137	P49640	EVX1_HUMAN	K	137	ENSP00000419266:E137K	ENSP00000419266:E137K	E	+	1	0	EVX1	27249583	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.815000	0.75242	2.521000	0.84997	0.561000	0.74099	GAG		0.657	EVX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358750.3			4	41	0	0	0	0.150653	0	4	41					A	27283058	G	A	27283058	3	1	178	1	0	0	0	0	1	0	0	0	5294	1059	37	2	411	2	EVX1	7	27283058	Missense_Mutation	SNP	G	TCGA-G9-6494-01A-11D-1786-08	26486515	27283058	131855605	19	8371											
TARP	6966	broad.mit.edu	37	chr7	38305254	38305254	+	RNA	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	agaaaaatagtgggcttgggGgaaacatctgcatcaagttg	14	9	13	5	0	2	1	1	0	1	1	2	2	2	2	0	3	2	3	0	3	5	3			TCGA-G9-6494-01A-11D-1786-08	TCGA-G9-6494-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d67b53-8534-402e-b082-1b75ec2aff1e	2821a5f1-f23f-467c-aa21-b9a0f8d623d8	g.chr7:38305254G>A	ENST00000443402.2	-	0	25					NM_001003799.1|NM_001003806.1	NP_001003799.1|NP_001003806.1	P0CF51	TRGC1_HUMAN	T cell receptor gamma constant 1							integral component of membrane (GO:0016021)											TGGGCTTGGGGGAAACATCTG	0.378																																						ENST00000443402.2																			0																				143	154	150					7																	38305254		1798	4075	5873			0							g.chr7:38305254G>A	M14996		7p14	2012-02-07			ENSG00000211689	ENSG00000211689		"T cell receptors / TRG locus"	12275	other	T cell receptor gene	"T-cell receptor, gamma, constant region C1"	186970		TCRGC1		2879283	Standard	NG_001336		Approved	C1		P0CF51	OTTHUMG00000155219		7.37:g.38305254G>A								NM_001003799.1|NM_001003806.1	NP_001003799.1|NP_001003806.1					0	25	-									RNA	SNP	ENST00000443402.2	37																																																																																						0.378	TRGC1-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_principal	TR_C_gene	TR_C_gene	OTTHUMT00000338825.3	NG_001336		81	196	0	0	0	0.139131	0	81	196					A	38305254	G	A	38305254	1	1	178	0	1	0	0	0	0	0	0	0	15555	1232	43	3		3	TARP	7	38305254	RNA	SNP	G	TCGA-G9-6494-01A-11D-1786-08	11022196	38305254	120833409	20	8372											
RP1	6101	broad.mit.edu	37	chr8	55533728	55533728	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	agtcctttgatgctctgctgGataacttgtccaggaaggtg	8	13	12	8	0	1	1	0	1	1	0	3	3	3	3	2	3	3	2	2	3	2	3			TCGA-G9-6494-01A-11D-1786-08	TCGA-G9-6494-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d67b53-8534-402e-b082-1b75ec2aff1e	2821a5f1-f23f-467c-aa21-b9a0f8d623d8	g.chr8:55533728G>A	ENST00000220676.1	+	2	350	c.202G>A	c.(202-204)Gat>Aat	p.D68N		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	68	Doublecortin 1. {ECO:0000255|PROSITE- ProRule:PRU00072}.				axoneme assembly (GO:0035082)|cellular response to light stimulus (GO:0071482)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|photoreceptor cell outer segment organization (GO:0035845)|phototransduction, visible light (GO:0007603)|retinal cone cell development (GO:0046549)|retinal rod cell development (GO:0046548)|visual perception (GO:0007601)	axoneme (GO:0005930)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)	microtubule binding (GO:0008017)	p.D68N(1)		NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			TGCTCTGCTGGATAACTTGTC	0.597																																					Colon(91;1014 1389 7634 14542 40420)	ENST00000220676.1																			1	Substitution - Missense(1)	p.D68N(1)	prostate(1)	NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169						c.(202-204)Gat>Aat		retinitis pigmentosa 1 (autosomal dominant)							131	102	112					8																	55533728		2203	4300	6503	SO:0001583	missense	6101				axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding	g.chr8:55533728G>A	AF146592	CCDS6160.1	8q12.1	2013-01-08				ENSG00000104237			10263	protein-coding gene	gene with protein product		603937				1783394	Standard	NM_006269		Approved	DCDC4A	uc003xsd.1	P56715		ENST00000220676.1:c.202G>A	8.37:g.55533728G>A	ENSP00000220676:p.Asp68Asn						p.D68N	NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)		2	350	+		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	68			Doublecortin 1.			Missense_Mutation	SNP	ENST00000220676.1	37	c.202G>A	CCDS6160.1	.	.	.	.	.	.	.	.	.	.	G	35	5.513479	0.96402	.	.	ENSG00000104237	ENST00000220676	D	0.92805	-3.11	5.25	5.25	0.73442	Doublecortin domain (5);	0.000000	0.64402	D	0.000012	D	0.95153	0.8429	L	0.54863	1.705	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95502	0.8578	10	0.72032	D	0.01	-22.9087	18.8395	0.92177	0.0:0.0:1.0:0.0	.	68	P56715	RP1_HUMAN	N	68	ENSP00000220676:D68N	ENSP00000220676:D68N	D	+	1	0	RP1	55696281	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.790000	0.99075	2.450000	0.82876	0.585000	0.79938	GAT		0.597	RP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378532.2	NM_006269		4	133	0	0	0	0.150653	0	4	133					A	55533728	G	A	55533728	3	1	178	1	0	0	0	0	1	0	0	0	13532	1174	41	3	204	3	RP1	8	55533728	Missense_Mutation	SNP	G	TCGA-G9-6494-01A-11D-1786-08		55533728	90830294	21	8373											
ZNF485	220992	broad.mit.edu	37	chr10	44104060	44104060	+	Splice_Site	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaattgggtttggttttgcAgggaccgctgacatttgggg	7	13	16	5	1	0	2	0	1	0	1	0	3	0	3	1	5	1	4	1	5	1	5			TCGA-G9-6494-01A-11D-1786-08	TCGA-G9-6494-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d67b53-8534-402e-b082-1b75ec2aff1e	2821a5f1-f23f-467c-aa21-b9a0f8d623d8	g.chr10:44104060A>T	ENST00000361807.3	+	3	218		c.e3-1		ZNF485_ENST00000374435.3_Splice_Site|ZNF485_ENST00000374437.2_Intron	NM_145312.3	NP_660355.2	Q8NCK3	ZN485_HUMAN	zinc finger protein 485						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.?(1)		breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1)	16						TTGGTTTTGCAGGGACCGCTG	0.562																																						ENST00000361807.3																			1	Unknown(1)	p.?(1)	prostate(1)	breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1)	16						c.e3-1		zinc finger protein 485							137	127	130					10																	44104060		692	1591	2283	SO:0001630	splice_region_variant	220992				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr10:44104060A>T	AK074679	CCDS7205.2	10q11.21	2013-01-08			ENSG00000198298	ENSG00000198298		"Zinc fingers, C2H2-type", "-"	23440	protein-coding gene	gene with protein product							Standard	NM_145312		Approved		uc010qfc.2	Q8NCK3	OTTHUMG00000018040	ENST00000361807.3:c.25-1A>T	10.37:g.44104060A>T						ZNF485_ENST00000374435.3_Splice_Site|ZNF485_ENST00000374437.2_Intron		NM_145312.3	NP_660355.2	Q8NCK3	ZN485_HUMAN			3	218	+								B4DSE6|Q96CL0	Splice_Site	SNP	ENST00000361807.3	37		CCDS7205.2	.	.	.	.	.	.	.	.	.	.	A	15.04	2.714179	0.48622	.	.	ENSG00000198298	ENST00000361807;ENST00000430885;ENST00000374435	.	.	.	2.96	2.96	0.34315	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.3218	0.37968	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ZNF485	43424066	1.000000	0.71417	0.357000	0.25798	0.885000	0.51271	3.002000	0.49496	1.352000	0.45808	0.379000	0.24179	.		0.562	ZNF485-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047719.2	NM_145312	Intron	6	15	0	0	0	0.021553	0	6	15					T	44104060	A	T	44104060	5	4	178	1	0	0	0	0	0	0	1	0	17935	202	7	5	29	5	ZNF485	10	44104060	Splice_Site	SNP	A	TCGA-G9-6494-01A-11D-1786-08		44104060	91430687	22	8374											
ERCC6	2074	broad.mit.edu	37	chr10	50736488	50736492	+	Frame_Shift_Del	DEL	ATCTA	ATCTA	-																															tcctcctccagactggcgtgAtctagttcaattttcacctc																										TCGA-G9-6494-01A-11D-1786-08	TCGA-G9-6494-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d67b53-8534-402e-b082-1b75ec2aff1e	2821a5f1-f23f-467c-aa21-b9a0f8d623d8	g.chr10:50736488_50736492delATCTA	ENST00000355832.5	-	4	701_705	c.623_627delTAGAT	c.(622-627)ctagatfs	p.LD208fs	ERCC6-PGBD3_ENST00000447839.2_Frame_Shift_Del_p.LD208fs|ERCC6-PGBD3_ENST00000515869.1_Frame_Shift_Del_p.LD208fs|PGBD3_ENST00000603152.1_Frame_Shift_Del_p.LD208fs	NM_000124.2	NP_000115.1	Q03468	ERCC6_HUMAN	excision repair cross-complementation group 6	208					activation of JNKK activity (GO:0007256)|activation of JUN kinase activity (GO:0007257)|ATP catabolic process (GO:0006200)|base-excision repair (GO:0006284)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|multicellular organism growth (GO:0035264)|nucleotide-excision repair (GO:0006289)|photoreceptor cell maintenance (GO:0045494)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|positive regulation of protein tyrosine kinase activity (GO:0061098)|pyrimidine dimer repair (GO:0006290)|regulation of DNA-templated transcription, elongation (GO:0032784)|response to gamma radiation (GO:0010332)|response to oxidative stress (GO:0006979)|response to superoxide (GO:0000303)|response to toxic substance (GO:0009636)|response to UV (GO:0009411)|response to UV-B (GO:0010224)|response to X-ray (GO:0010165)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase II promoter (GO:0006366)|transcription-coupled nucleotide-excision repair (GO:0006283)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|protein N-terminus binding (GO:0047485)|protein tyrosine kinase activator activity (GO:0030296)			breast(5)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						GACTGGCGTGATCTAGTTCAATTTT	0.459								Direct reversal of damage;Nucleotide excision repair (NER)																														ENST00000355832.5																			0				breast(5)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						c.(622-627)cfs	Direct reversal of damage;Nucleotide excision repair (NER)	excision repair cross-complementing rodent repair deficiency, complementation group 6																																				SO:0001589	frameshift_variant	2074				base-excision repair|positive regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair	nucleolus|soluble fraction|transcription elongation factor complex	ATP binding|chromatin binding|DNA binding|DNA-dependent ATPase activity|helicase activity|protein C-terminus binding|protein complex binding|protein N-terminus binding	g.chr10:50736488_50736492delATCTA	L04791	CCDS7229.1	10q11	2014-09-17	2014-03-07		ENSG00000225830	ENSG00000225830			3438	protein-coding gene	gene with protein product	"Cockayne syndrome B protein"	609413	"excision repair cross-complementing rodent repair deficiency, complementation group 6"	CKN2		1339317, 19179336	Standard	NM_000124		Approved	CSB, RAD26, ARMD5	uc001jhs.5	Q03468	OTTHUMG00000018195	ENST00000355832.5:c.623_627delTAGAT	10.37:g.50736488_50736492delATCTA	ENSP00000348089:p.Leu208fs					PGBD3_ENST00000603152.1_Frame_Shift_Del_p.LD208fs|ERCC6-PGBD3_ENST00000515869.1_Frame_Shift_Del_p.LD208fs|ERCC6-PGBD3_ENST00000447839.2_Frame_Shift_Del_p.LD208fs	p.LD208fs	NM_000124.2	NP_000115.1	Q03468	ERCC6_HUMAN			4	701_705	-			208					D3DX94|Q5W0L9	Frame_Shift_Del	DEL	ENST00000355832.5	37	c.623_627delTAGAT	CCDS7229.1																																																																																				0.459	ERCC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047990.1	NM_000124		16	56						16	56	---	---	---	---	-	50736492	ATCTA	-	50736488	7	5	178	1	0	1	0	1	0	0	0	0	5217	330	12	0	3926	0	ERCC6	10	50736488	Frame_Shift_Del	DEL	ATCTA	TCGA-G9-6494-01A-11D-1786-08	6632428	50736488	84798259	23	8375											
ZNF214	7761	broad.mit.edu	37	chr11	7021497	7021497	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	gaagcccttcccacattcagGacaagtatagggtttctccc	10	10	8	13	0	2	0	1	0	1	0	4	2	3	1	3	2	1	2	3	2	4	5			TCGA-G9-6494-01A-11D-1786-08	TCGA-G9-6494-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d67b53-8534-402e-b082-1b75ec2aff1e	2821a5f1-f23f-467c-aa21-b9a0f8d623d8	g.chr11:7021497G>C	ENST00000278314.4	-	3	1732	c.1417C>G	c.(1417-1419)Cct>Gct	p.P473A	ZNF214_ENST00000531083.1_5'Flank|ZNF214_ENST00000536068.1_Missense_Mutation_p.P473A	NM_013249.2	NP_037381.2	Q9UL59	ZN214_HUMAN	zinc finger protein 214	473					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.P473A(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				Epithelial(150;3.87e-08)|BRCA - Breast invasive adenocarcinoma(625;0.081)		CCACATTCAGGACAAGTATAG	0.438																																					Ovarian(22;251 657 736 21522 46864)	ENST00000278314.4																			1	Substitution - Missense(1)	p.P473A(1)	prostate(1)	NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(1417-1419)Cct>Gct		zinc finger protein 214							97	103	101					11																	7021497		2201	4296	6497	SO:0001583	missense	0				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr11:7021497G>C	AF056617	CCDS31418.1	11p15.4	2013-01-08				ENSG00000149050		"Zinc fingers, C2H2-type", "-"	13006	protein-coding gene	gene with protein product		605015					Standard	NM_013249		Approved		uc001mfa.2	Q9UL59		ENST00000278314.4:c.1417C>G	11.37:g.7021497G>C	ENSP00000278314:p.Pro473Ala					ZNF214_ENST00000536068.1_Missense_Mutation_p.P473A	p.P473A	NM_013249.2	NP_037381.2	Q9UL59	ZN214_HUMAN		Epithelial(150;3.87e-08)|BRCA - Breast invasive adenocarcinoma(625;0.081)	3	1732	-			473					B2R8Q1	Missense_Mutation	SNP	ENST00000278314.4	37	c.1417C>G	CCDS31418.1	.	.	.	.	.	.	.	.	.	.	G	2.591	-0.295225	0.05532	.	.	ENSG00000149050	ENST00000278314;ENST00000536068	T;T	0.26957	1.7;1.7	4.05	3.14	0.36123	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.149506	0.31589	N	0.007383	T	0.19087	0.0458	L	0.52759	1.655	0.22034	N	0.999409	B	0.06786	0.001	B	0.04013	0.001	T	0.14200	-1.0481	10	0.22109	T	0.4	.	5.8137	0.18479	0.1057:0.1967:0.6975:0.0	.	473	Q9UL59	ZN214_HUMAN	A	473	ENSP00000278314:P473A;ENSP00000445373:P473A	ENSP00000278314:P473A	P	-	1	0	ZNF214	6978073	0.000000	0.05858	1.000000	0.80357	0.979000	0.70002	-1.013000	0.03645	1.285000	0.44548	0.561000	0.74099	CCT		0.438	ZNF214-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385349.1			12	52	0	0	0	0.09319	0	12	52					C	7021497	G	C	7021497	3	2	178	1	0	0	0	0	1	0	0	0	17767	1174	41	5	407	5	ZNF214	11	7021497	Missense_Mutation	SNP	G	TCGA-G9-6494-01A-11D-1786-08		7021497	127985019	24	8376											
ANO3	63982	broad.mit.edu	37	chr11	26620449	26620449	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccaagtattacaagatggaGattgtaaatcccatcacggg	14	9	10	8	1	1	2	1	0	0	2	2	3	2	2	2	2	1	2	2	2	6	4			TCGA-G9-6494-01A-11D-1786-08	TCGA-G9-6494-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d67b53-8534-402e-b082-1b75ec2aff1e	2821a5f1-f23f-467c-aa21-b9a0f8d623d8	g.chr11:26620449G>T	ENST00000256737.3	+	16	2427	c.1575G>T	c.(1573-1575)gaG>gaT	p.E525D	ANO3_ENST00000531568.1_Missense_Mutation_p.E379D|ANO3_ENST00000537978.1_Missense_Mutation_p.E509D|ANO3_ENST00000525139.1_Missense_Mutation_p.E509D	NM_031418.2	NP_113606.2	Q9BYT9	ANO3_HUMAN	anoctamin 3	525					calcium activated galactosylceramide scrambling (GO:0061591)|calcium activated phosphatidylcholine scrambling (GO:0061590)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	phospholipid scramblase activity (GO:0017128)	p.E525D(1)		breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68						ACAAGATGGAGATTGTAAATC	0.383																																						ENST00000256737.3																			1	Substitution - Missense(1)	p.E525D(1)	prostate(1)	breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68						c.(1573-1575)gaG>gaT		anoctamin 3							78	69	72					11																	26620449		2203	4299	6502	SO:0001583	missense	63982					chloride channel complex	chloride channel activity	g.chr11:26620449G>T	AJ300461	CCDS31447.1	11p14.2	2014-04-09	2008-08-28	2008-08-28	ENSG00000134343	ENSG00000134343		"Ion channels / Chloride channels : Calcium activated : Anoctamins"	14004	protein-coding gene	gene with protein product	"transmembrane protein 16C (eight membrane-spanning domains)"	610110	"chromosome 11 open reading frame 25", "transmembrane protein 16C"	C11orf25, TMEM16C		12739008, 15067359, 23200863, 24692353	Standard	NM_031418		Approved	GENX-3947, DYT23	uc001mqt.4	Q9BYT9	OTTHUMG00000166096	ENST00000256737.3:c.1575G>T	11.37:g.26620449G>T	ENSP00000256737:p.Glu525Asp					ANO3_ENST00000525139.1_Missense_Mutation_p.E509D|ANO3_ENST00000537978.1_Missense_Mutation_p.E509D|ANO3_ENST00000531568.1_Missense_Mutation_p.E379D	p.E525D	NM_031418.2	NP_113606.2	Q9BYT9	ANO3_HUMAN			16	2427	+			525					B7Z3F5	Missense_Mutation	SNP	ENST00000256737.3	37	c.1575G>T	CCDS31447.1	.	.	.	.	.	.	.	.	.	.	G	15.84	2.951100	0.53186	.	.	ENSG00000134343	ENST00000537978;ENST00000525139;ENST00000256737;ENST00000538001;ENST00000531568	T;T;T;T	0.73152	-0.72;-0.72;-0.72;-0.59	5.98	1.62	0.23740	.	0.103857	0.64402	D	0.000003	T	0.76169	0.3950	L	0.54323	1.7	0.52099	D	0.999941	D;P	0.71674	0.998;0.868	D;P	0.76071	0.987;0.644	T	0.72388	-0.4309	10	0.44086	T	0.13	.	8.0373	0.30499	0.4981:0.0:0.5019:0.0	.	427;525	B7Z7Y6;Q9BYT9	.;ANO3_HUMAN	D	509;509;525;427;379	ENSP00000440737:E509D;ENSP00000432576:E509D;ENSP00000256737:E525D;ENSP00000432394:E379D	ENSP00000256737:E525D	E	+	3	2	ANO3	26577025	0.999000	0.42202	0.461000	0.27105	0.561000	0.35649	1.659000	0.37387	0.447000	0.26695	-0.140000	0.14226	GAG		0.383	ANO3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000387806.1	NM_031418		9	31	1	0	9.70103e-10	0.069234	1.12064e-09	9	31					T	26620449	G	T	26620449	3	4	178	1	0	0	0	0	1	0	0	0	698	933	33	5	1637	5	ANO3	11	26620449	Missense_Mutation	SNP	G	TCGA-G9-6494-01A-11D-1786-08	19598952	26620449	108386067	25	8377											
B3GAT3	26229	broad.mit.edu	37	chr11	62384117	62384117	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	acagcaagggcagggccacgGcaaatccagccatatccaca	14	3	10	14	1	0	0	0	0	0	0	2	0	2	0	4	3	2	3	4	3	3	1			TCGA-G9-6494-01A-11D-1786-08	TCGA-G9-6494-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d67b53-8534-402e-b082-1b75ec2aff1e	2821a5f1-f23f-467c-aa21-b9a0f8d623d8	g.chr11:62384117G>A	ENST00000265471.5	-	4	997	c.770C>T	c.(769-771)gCc>gTc	p.A257V	B3GAT3_ENST00000534026.1_Missense_Mutation_p.A257V|B3GAT3_ENST00000531383.1_Missense_Mutation_p.A257V	NM_012200.3	NP_036332.2	O94766	B3GA3_HUMAN	beta-1,3-glucuronyltransferase 3	257					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|chondroitin sulfate proteoglycan biosynthetic process (GO:0050650)|dermatan sulfate proteoglycan biosynthetic process (GO:0050651)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|protein glycosylation (GO:0006486)|small molecule metabolic process (GO:0044281)	cis-Golgi network (GO:0005801)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity (GO:0015018)|glucuronosyltransferase activity (GO:0015020)|metal ion binding (GO:0046872)	p.A257V(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(2)|urinary_tract(1)	12						CAGGGCCACGGCAAATCCAGC	0.612																																						ENST00000531383.1																			1	Substitution - Missense(1)	p.A257V(1)	prostate(1)	endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(2)|urinary_tract(1)	12						c.(769-771)gCc>gTc		beta-1,3-glucuronyltransferase 3 (glucuronosyltransferase I)							49	49	49					11																	62384117		2202	4299	6501	SO:0001583	missense	26229				glycosaminoglycan biosynthetic process	Golgi membrane|integral to membrane	galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity|manganese ion binding	g.chr11:62384117G>A	AB009598	CCDS8025.1	11q12	2014-07-08	2014-07-08		ENSG00000149541	ENSG00000149541	2.4.1.135	"Beta-1,3-glucuronyltransferases"	923	protein-coding gene	gene with protein product	"glucuronosyltransferase I", "galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase 3"	606374	"beta-1,3-glucuronyltransferase 3 (glucuronosyltransferase I)"			9506957	Standard	NM_012200		Approved	GlcAT-I	uc001ntw.3	O94766	OTTHUMG00000167685	ENST00000265471.5:c.770C>T	11.37:g.62384117G>A	ENSP00000265471:p.Ala257Val					B3GAT3_ENST00000534026.1_Missense_Mutation_p.A257V|B3GAT3_ENST00000265471.5_Missense_Mutation_p.A257V	p.A257V			O94766	B3GA3_HUMAN			4	976	-			257					B7ZAB3|Q96I06|Q9UEP0	Missense_Mutation	SNP	ENST00000265471.5	37	c.770C>T	CCDS8025.1	.	.	.	.	.	.	.	.	.	.	g	29.1	4.978226	0.92982	.	.	ENSG00000149541	ENST00000265471;ENST00000531383;ENST00000534026	D;D;D	0.84442	-1.85;-1.85;-1.85	5.31	5.31	0.75309	.	0.000000	0.85682	D	0.000000	D	0.91868	0.7426	M	0.75150	2.29	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.87578	0.998;0.969;0.97	D	0.91926	0.5551	10	0.51188	T	0.08	.	16.4741	0.84127	0.0:0.0:1.0:0.0	.	257;263;257	B7ZAB3;Q5U676;O94766	.;.;B3GA3_HUMAN	V	257	ENSP00000265471:A257V;ENSP00000431359:A257V;ENSP00000432474:A257V	ENSP00000265471:A257V	A	-	2	0	B3GAT3	62140693	1.000000	0.71417	0.938000	0.37757	0.928000	0.56348	9.761000	0.98940	2.491000	0.84063	0.556000	0.70494	GCC		0.612	B3GAT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395588.1	NM_012200		3	52	0	0	0	0.115264	0	3	52					A	62384117	G	A	62384117	3	1	178	1	0	0	0	0	1	0	0	0	1255	1203	42	3	245	3	B3GAT3	11	62384117	Missense_Mutation	SNP	G	TCGA-G9-6494-01A-11D-1786-08	35763668	62384117	72622399	26	8378											
HRASLS2	54979	broad.mit.edu	37	chr11	63326111	63326111	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gggcagacaggacactggccGcaccagctccagcaatttca	11	5	11	14	1	1	1	1	0	0	1	2	2	2	2	3	3	2	4	3	3	1	1	rs200210991		TCGA-G9-6494-01A-11D-1786-08	TCGA-G9-6494-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d67b53-8534-402e-b082-1b75ec2aff1e	2821a5f1-f23f-467c-aa21-b9a0f8d623d8	g.chr11:63326111G>A	ENST00000255695.1	-	3	198	c.140C>T	c.(139-141)gCg>gTg	p.A47V		NM_017878.1	NP_060348.1	Q9NWW9	HRSL2_HUMAN	HRAS-like suppressor 2	47					lipid catabolic process (GO:0016042)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	hydrolase activity (GO:0016787)|transferase activity, transferring acyl groups (GO:0016746)	p.A47V(1)		breast(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)	6						GACACTGGCCGCACCAGCTCC	0.582																																						ENST00000255695.1																			1	Substitution - Missense(1)	p.A47V(1)	prostate(1)	breast(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)	6						c.(139-141)gCg>gTg		HRAS-like suppressor 2		G	VAL/ALA	0,4402		0,0,2201	131	114	120		140	-6.9	0	11		120	5,8591	4.3+/-15.6	0,5,4293	yes	missense	HRASLS2	NM_017878.1	64	0,5,6494	AA,AG,GG		0.0582,0.0,0.0385	benign	47/163	63326111	5,12993	2201	4298	6499	SO:0001583	missense	54979				lipid catabolic process	cytoplasm	acyltransferase activity|hydrolase activity	g.chr11:63326111G>A		CCDS8046.1	11q12.2	2008-07-18			ENSG00000133328	ENSG00000133328			17824	protein-coding gene	gene with protein product		613866					Standard	NM_017878		Approved	FLJ20556	uc001nxg.1	Q9NWW9	OTTHUMG00000167851	ENST00000255695.1:c.140C>T	11.37:g.63326111G>A	ENSP00000255695:p.Ala47Val						p.A47V	NM_017878.1	NP_060348.1	Q9NWW9	HRSL2_HUMAN			3	198	-			47					B9A7L8	Missense_Mutation	SNP	ENST00000255695.1	37	c.140C>T	CCDS8046.1	.	.	.	.	.	.	.	.	.	.	G	11.73	1.726846	0.30593	0.0	5.82E-4	ENSG00000133328	ENST00000255695	T	0.22945	1.93	4.05	-6.91	0.01649	.	1.225910	0.06280	N	0.697162	T	0.21801	0.0525	L	0.51914	1.62	0.09310	N	1	B	0.12630	0.006	B	0.10450	0.005	T	0.35176	-0.9799	10	0.13470	T	0.59	-20.9157	15.4377	0.75160	0.8207:0.0:0.1793:0.0	.	47	Q9NWW9	HRSL2_HUMAN	V	47	ENSP00000255695:A47V	ENSP00000255695:A47V	A	-	2	0	HRASLS2	63082687	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-2.107000	0.01337	-1.590000	0.01623	-0.356000	0.07607	GCG		0.582	HRASLS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396631.1	NM_017878		4	148	0	0	0	0.150653	0	4	148					A	63326111	G	A	63326111	3	1	178	1	0	0	0	0	1	0	0	0	7350	1087	38	1	356	1	HRASLS2	11	63326111	Missense_Mutation	SNP	G	TCGA-G9-6494-01A-11D-1786-08	941994	63326111	71680405	27	8379											
PLBD2	196463	broad.mit.edu	37	chr12	113822716	113822716	+	Silent	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atcccgggtgggcccagcccCgggagccgggtgcttaccat	5	6	15	15	3	0	0	0	0	0	0	1	1	1	1	6	4	4	1	6	4	1	1	rs371662208		TCGA-G9-6494-01A-11D-1786-08	TCGA-G9-6494-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d67b53-8534-402e-b082-1b75ec2aff1e	2821a5f1-f23f-467c-aa21-b9a0f8d623d8	g.chr12:113822716C>G	ENST00000280800.3	+	8	1210	c.1179C>G	c.(1177-1179)ccC>ccG	p.P393P	PLBD2_ENST00000545182.2_Intron	NM_173542.3	NP_775813.2	Q8NHP8	PLBL2_HUMAN	phospholipase B domain containing 2	393					lipid catabolic process (GO:0016042)	extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	hydrolase activity (GO:0016787)	p.P393P(1)		breast(1)|endometrium(1)|large_intestine(3)|lung(7)|prostate(1)	13						GGCCCAGCCCCGGGAGCCGGG	0.667																																						ENST00000280800.3																			1	Substitution - coding silent(1)	p.P393P(1)	prostate(1)	breast(1)|endometrium(1)|large_intestine(3)|lung(7)|prostate(1)	13						c.(1177-1179)ccC>ccG		phospholipase B domain containing 2							28	27	28					12																	113822716		2203	4300	6503	SO:0001819	synonymous_variant	196463				lipid catabolic process	lysosomal lumen	hydrolase activity	g.chr12:113822716C>G	BC030618	CCDS9168.1, CCDS53834.1	12q24.13	2013-10-11				ENSG00000151176			27283	protein-coding gene	gene with protein product	"PLB homolog 2 (Dictyostelium)", "mannose-6-phosphate protein associated protein p76"					17105447, 15193148, 19019078	Standard	NM_001159727		Approved	p76	uc001tve.2	Q8NHP8	OTTHUMG00000169567	ENST00000280800.3:c.1179C>G	12.37:g.113822716C>G						PLBD2_ENST00000545182.2_Intron	p.P393P	NM_173542.3	NP_775813.2	Q8NHP8	PLBL2_HUMAN			8	1210	+			393					F5H5E2	Silent	SNP	ENST00000280800.3	37	c.1179C>G	CCDS9168.1																																																																																				0.667	PLBD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404835.1	NM_173542		3	39	0	0	0	0.115264	0	3	39					G	113822716	C	G	113822716	2	3	178	1	0	0	0	0	0	0	0	1	12026	639	23	5		5	PLBD2	12	113822716	Silent	SNP	C	TCGA-G9-6494-01A-11D-1786-08		113822716	20029179	28	8380											
SIX1	6495	broad.mit.edu	37	chr14	61115639	61115639	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctcggcctccacgtaatgcGccttcagccacagttgctgc	6	10	9	16	3	2	0	1	0	1	0	4	0	3	0	4	1	4	3	4	1	1	3			TCGA-G9-6494-01A-11D-1786-08	TCGA-G9-6494-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d67b53-8534-402e-b082-1b75ec2aff1e	2821a5f1-f23f-467c-aa21-b9a0f8d623d8	g.chr14:61115639G>A	ENST00000247182.6	-	1	541	c.269C>T	c.(268-270)gCg>gTg	p.A90V	SIX1_ENST00000554986.1_Intron	NM_005982.3	NP_005973.1	Q15475	SIX1_HUMAN	SIX homeobox 1	90					aorta morphogenesis (GO:0035909)|apoptotic process (GO:0006915)|branching involved in ureteric bud morphogenesis (GO:0001658)|cochlea morphogenesis (GO:0090103)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic skeletal system morphogenesis (GO:0048704)|epithelial cell differentiation (GO:0030855)|facial nerve morphogenesis (GO:0021610)|generation of neurons (GO:0048699)|inner ear development (GO:0048839)|inner ear morphogenesis (GO:0042472)|kidney development (GO:0001822)|mesonephric tubule formation (GO:0072172)|metanephric mesenchyme development (GO:0072075)|middle ear morphogenesis (GO:0042474)|myoblast migration (GO:0051451)|negative regulation of branching involved in ureteric bud morphogenesis (GO:0090191)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron fate specification (GO:0048665)|organ induction (GO:0001759)|otic vesicle development (GO:0071599)|outflow tract morphogenesis (GO:0003151)|pattern specification process (GO:0007389)|pharyngeal system development (GO:0060037)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of mesenchymal cell proliferation involved in ureter development (GO:2000729)|positive regulation of secondary heart field cardioblast proliferation (GO:0072513)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of ureteric bud formation (GO:0072107)|protein localization to nucleus (GO:0034504)|regulation of branch elongation involved in ureteric bud branching (GO:0072095)|regulation of neuron differentiation (GO:0045664)|regulation of protein localization (GO:0032880)|regulation of synaptic growth at neuromuscular junction (GO:0008582)|regulation of transcription, DNA-templated (GO:0006355)|sensory perception of sound (GO:0007605)|skeletal muscle tissue development (GO:0007519)|thymus development (GO:0048538)|thyroid gland development (GO:0030878)|transcription, DNA-templated (GO:0006351)|ureter smooth muscle cell differentiation (GO:0072193)|ureteric bud development (GO:0001657)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)	p.A90V(1)		breast(2)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)	13				OV - Ovarian serous cystadenocarcinoma(108;0.0201)		CACGTAATGCGCCTTCAGCCA	0.627																																						ENST00000247182.6																			1	Substitution - Missense(1)	p.A90V(1)	prostate(1)	breast(2)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)	13						c.(268-270)gCg>gTg		SIX homeobox 1							108	110	110					14																	61115639		2203	4300	6503	SO:0001583	missense	6495				branching involved in ureteric bud morphogenesis|embryonic cranial skeleton morphogenesis|epithelial cell differentiation|inner ear morphogenesis|mesonephric tubule formation|metanephric mesenchyme development|myoblast migration|negative regulation of neuron apoptosis|organ induction|pattern specification process|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of ureteric bud formation|protein localization to nucleus|regulation of branch elongation involved in ureteric bud branching|regulation of neuron differentiation|skeletal muscle tissue development|thymus development|thyroid gland development	nucleolus|transcription factor complex	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	g.chr14:61115639G>A	X91868	CCDS9748.1	14q23.1	2011-06-20	2007-07-13		ENSG00000126778	ENSG00000126778		"Homeoboxes / SINE class"	10887	protein-coding gene	gene with protein product		601205	"sine oculis homeobox (Drosophila) homolog 1", "sine oculis homeobox homolog 1 (Drosophila)", "deafness, autosomal dominant 23"	DFNA23		8617500, 15141091	Standard	NM_005982		Approved		uc001xfb.4	Q15475	OTTHUMG00000140334	ENST00000247182.6:c.269C>T	14.37:g.61115639G>A	ENSP00000247182:p.Ala90Val					SIX1_ENST00000554986.1_Intron	p.A90V	NM_005982.3	NP_005973.1	Q15475	SIX1_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0201)	1	541	-			90					Q53Y16|Q96H64	Missense_Mutation	SNP	ENST00000247182.6	37	c.269C>T	CCDS9748.1	.	.	.	.	.	.	.	.	.	.	G	35	5.562863	0.96527	.	.	ENSG00000126778	ENST00000247182	D	0.90324	-2.65	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	D	0.95408	0.8509	M	0.93763	3.455	0.80722	D	1	D	0.67145	0.996	P	0.51453	0.67	D	0.96147	0.9105	10	0.87932	D	0	-16.4904	19.6964	0.96028	0.0:0.0:1.0:0.0	.	90	Q15475	SIX1_HUMAN	V	90	ENSP00000247182:A90V	ENSP00000247182:A90V	A	-	2	0	SIX1	60185392	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.651000	0.98493	2.748000	0.94277	0.655000	0.94253	GCG		0.627	SIX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276951.3			6	189	0	0	0	0.02938	0	6	189					A	61115639	G	A	61115639	3	1	178	1	0	0	0	0	1	0	0	0	14346	1087	38	1	593	1	SIX1	14	61115639	Missense_Mutation	SNP	G	TCGA-G9-6494-01A-11D-1786-08		61115639	46233901	29	8381											
TSHR	7253	broad.mit.edu	37	chr14	81422160	81422160	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcacctgcaaggatattcaaCgcatccccagcttaccgccc	10	8	6	17	2	2	0	2	0	0	0	3	1	3	1	5	1	4	3	5	1	4	3			TCGA-G9-6494-01A-11D-1786-08	TCGA-G9-6494-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d67b53-8534-402e-b082-1b75ec2aff1e	2821a5f1-f23f-467c-aa21-b9a0f8d623d8	g.chr14:81422160C>T	ENST00000541158.2	+	2	458	c.136C>T	c.(136-138)Cgc>Tgc	p.R46C	TSHR_ENST00000554263.1_Missense_Mutation_p.R46C|TSHR_ENST00000342443.6_Missense_Mutation_p.R46C|TSHR_ENST00000298171.2_Missense_Mutation_p.R46C|TSHR_ENST00000557096.1_3'UTR|TSHR_ENST00000554435.1_Missense_Mutation_p.R46C			P16473	TSHR_HUMAN	thyroid stimulating hormone receptor	46					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adult locomotory behavior (GO:0008344)|B cell differentiation (GO:0030183)|cell-cell signaling (GO:0007267)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|positive regulation of cell proliferation (GO:0008284)|positive regulation of multicellular organism growth (GO:0040018)|regulation of locomotion (GO:0040012)|thyroid-stimulating hormone signaling pathway (GO:0038194)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	thyroid-stimulating hormone receptor activity (GO:0004996)	p.R46C(3)		breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(2)|stomach(1)|thyroid(291)|upper_aerodigestive_tract(1)	337				BRCA - Breast invasive adenocarcinoma(234;0.0402)	Thyrotropin Alfa(DB00024)	GGATATTCAACGCATCCCCAG	0.607			Mis		toxic thyroid adenoma	thyroid  adenoma	Hereditary nonautoimmune hyperthyroidism; subclinical hypothyroidism																															ENST00000541158.2			yes	Dom	yes		14	14q31	7253	Mis	thyroid stimulating hormone receptor	yes	Hereditary nonautoimmune hyperthyroidism; subclinical hypothyroidism	E		thyroid  adenoma	toxic thyroid adenoma		3	Substitution - Missense(3)	p.R46C(3)	prostate(3)	breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(2)|stomach(1)|thyroid(291)|upper_aerodigestive_tract(1)	337						c.(136-138)Cgc>Tgc		thyroid stimulating hormone receptor	Thyrotropin Alfa(DB00024)						141	116	124					14																	81422160		2203	4300	6503	SO:0001583	missense	7253				cell-cell signaling|positive regulation of cell proliferation	integral to plasma membrane	protein binding|thyroid-stimulating hormone receptor activity	g.chr14:81422160C>T	AY429111	CCDS9872.1, CCDS32131.1, CCDS55935.1	14q24-q31	2014-09-17			ENSG00000165409	ENSG00000165409		"GPCR / Class A : Gonadotropin and TSH receptors"	12373	protein-coding gene	gene with protein product		603372				2558651, 2610690	Standard	NM_001018036		Approved	LGR3	uc001xvd.1	P16473		ENST00000541158.2:c.136C>T	14.37:g.81422160C>T	ENSP00000441235:p.Arg46Cys					TSHR_ENST00000342443.6_Missense_Mutation_p.R46C|TSHR_ENST00000554435.1_Missense_Mutation_p.R46C|TSHR_ENST00000557096.1_3'UTR|TSHR_ENST00000298171.2_Missense_Mutation_p.R46C|TSHR_ENST00000554263.1_Missense_Mutation_p.R46C	p.R46C			P16473	TSHR_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0402)	2	458	+			46					A0PJU7|F5GYU5|G3V2A9|Q16503|Q8TB90|Q96GT6|Q9P1V4|Q9ULA3|Q9UPH3	Missense_Mutation	SNP	ENST00000541158.2	37	c.136C>T	CCDS9872.1	.	.	.	.	.	.	.	.	.	.	C	17.21	3.332042	0.60853	.	.	ENSG00000165409	ENST00000541158;ENST00000412429;ENST00000342443;ENST00000298171;ENST00000554263;ENST00000554435	D;D;D;D;D	0.83755	-1.76;-1.76;-1.76;-1.76;-1.76	5.2	-1.15	0.09709	.	0.952558	0.08724	N	0.903036	T	0.73016	0.3533	N	0.19112	0.55	0.34896	D	0.746012	P;P;P;P	0.52577	0.954;0.724;0.92;0.604	P;B;P;B	0.49332	0.607;0.301;0.511;0.158	T	0.70378	-0.4888	10	0.49607	T	0.09	.	3.3754	0.07235	0.5162:0.2508:0.0:0.233	.	46;46;46;46	G3V2A9;F5GYU5;P16473-2;P16473	.;.;.;TSHR_HUMAN	C	46	ENSP00000441235:R46C;ENSP00000340113:R46C;ENSP00000298171:R46C;ENSP00000451202:R46C;ENSP00000450549:R46C	ENSP00000298171:R46C	R	+	1	0	TSHR	80491913	0.003000	0.15002	0.063000	0.19743	0.992000	0.81027	-0.256000	0.08757	-0.085000	0.12573	0.655000	0.94253	CGC		0.607	TSHR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413364.1	NM_000369		31	92	0	0	0	0.134883	0	31	92					T	81422160	C	T	81422160	3	4	178	1	0	0	0	0	1	0	0	0	16619	536	19	1	138	1	TSHR	14	81422160	Missense_Mutation	SNP	C	TCGA-G9-6494-01A-11D-1786-08	20306521	81422160	25927380	30	8382											
KIAA0284	283638	broad.mit.edu	37	chr14	105349541	105349541	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccggcacacgagatgcccacGaaggatgcagaggcaggtgg	11	3	16	11	3	0	2	0	0	0	2	0	5	0	3	2	5	2	3	2	5	1	0	rs375437438		TCGA-G9-6494-01A-11D-1786-08	TCGA-G9-6494-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d67b53-8534-402e-b082-1b75ec2aff1e	2821a5f1-f23f-467c-aa21-b9a0f8d623d8	g.chr14:105349541G>A	ENST00000414716.3	+	8	975	c.747G>A	c.(745-747)acG>acA	p.T249T	CEP170B_ENST00000556508.1_Silent_p.T179T|CEP170B_ENST00000418279.1_Silent_p.T179T|CEP170B_ENST00000453495.1_Silent_p.T250T	NM_001112726.2	NP_001106197.1	Q9Y4F5	C170B_HUMAN	centrosomal protein 170B	249						cytoplasm (GO:0005737)|microtubule (GO:0005874)		p.T249T(2)|p.T180T(1)|p.T179T(1)									AGATGCCCACGAAGGATGCAG	0.667																																						ENST00000453495.1																			4	Substitution - coding silent(4)	p.T249T(2)|p.T180T(1)|p.T179T(1)	prostate(3)|breast(1)								c.(748-750)acG>acA		centrosomal protein 170B			,	2,4012		0,2,2005	26	34	31		747,537	-5.8	0	14		31	0,8304		0,0,4152	no	coding-synonymous,coding-synonymous	KIAA0284	NM_001112726.2,NM_015005.2	,	0,2,6157	AA,AG,GG		0.0,0.0498,0.0162	,	249/1555,179/1520	105349541	2,12316	2007	4152	6159	SO:0001819	synonymous_variant	283638							g.chr14:105349541G>A	AB006622	CCDS45175.1, CCDS45176.1, CCDS45176.2	14q32.33	2014-02-20	2012-11-30	2012-11-30	ENSG00000099814	ENSG00000099814			20362	protein-coding gene	gene with protein product	"Cep170-related"		"KIAA0284"	KIAA0284		23087211	Standard	NM_015005		Approved	FAM68C, Cep170R	uc010axb.4	Q9Y4F5	OTTHUMG00000170763	ENST00000414716.3:c.747G>A	14.37:g.105349541G>A						CEP170B_ENST00000418279.1_Silent_p.T179T|CEP170B_ENST00000414716.3_Silent_p.T249T|CEP170B_ENST00000556508.1_Silent_p.T179T	p.T250T							8	978	+								Q2KHR7|Q86TI7	Silent	SNP	ENST00000414716.3	37	c.750G>A	CCDS45175.1																																																																																				0.667	CEP170B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000410289.2	NM_001112726		6	36	0	0	0	0.047766	0	6	36					A	105349541	G	A	105349541	2	1	178	1	0	0	0	0	0	0	0	1	8166	1045	37	2		2	KIAA0284	14	105349541	Silent	SNP	G	TCGA-G9-6494-01A-11D-1786-08	23927381	105349541	1999999	31	8383											
IGDCC4	57722	broad.mit.edu	37	chr15	65687537	65687537	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgtgttgggttccaggtcccGaacctgtagttctgtggtgt	4	15	14	8	1	1	0	0	0	1	0	3	1	3	0	3	3	1	4	3	3	2	4			TCGA-G9-6494-01A-11D-1786-08	TCGA-G9-6494-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d67b53-8534-402e-b082-1b75ec2aff1e	2821a5f1-f23f-467c-aa21-b9a0f8d623d8	g.chr15:65687537G>A	ENST00000352385.2	-	8	1680	c.1471C>T	c.(1471-1473)Cgg>Tgg	p.R491W		NM_020962.1	NP_066013.1	Q8TDY8	IGDC4_HUMAN	immunoglobulin superfamily, DCC subclass, member 4	491	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.R491W(1)		NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	44						TCCAGGTCCCGAACCTGTAGT	0.572																																						ENST00000352385.2																			1	Substitution - Missense(1)	p.R491W(1)	prostate(1)	NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	44						c.(1471-1473)Cgg>Tgg		immunoglobulin superfamily, DCC subclass, member 4							112	106	108					15																	65687537		2201	4299	6500	SO:0001583	missense	57722					integral to membrane|plasma membrane		g.chr15:65687537G>A		CCDS10206.1	15q22.31	2013-02-11			ENSG00000103742	ENSG00000103742		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	13770	protein-coding gene	gene with protein product	"likely ortholog of mouse neighbor of Punc E11"						Standard	NM_020962		Approved	NOPE, LOC57722	uc002aou.1	Q8TDY8	OTTHUMG00000133136	ENST00000352385.2:c.1471C>T	15.37:g.65687537G>A	ENSP00000319623:p.Arg491Trp						p.R491W	NM_020962.1	NP_066013.1	Q8TDY8	IGDC4_HUMAN			8	1680	-			491			Fibronectin type-III 1.		Q9HCE4	Missense_Mutation	SNP	ENST00000352385.2	37	c.1471C>T	CCDS10206.1	.	.	.	.	.	.	.	.	.	.	G	25.4	4.634674	0.87660	.	.	ENSG00000103742	ENST00000352385;ENST00000356152	T	0.58060	0.36	5.64	4.67	0.58626	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.176524	0.47852	D	0.000203	T	0.59715	0.2214	L	0.41573	1.285	0.44295	D	0.997162	D	0.76494	0.999	D	0.63113	0.911	T	0.61128	-0.7125	10	0.66056	D	0.02	-18.6204	11.8981	0.52667	0.0:0.0:0.6601:0.3399	.	491	Q8TDY8	IGDC4_HUMAN	W	491;220	ENSP00000319623:R491W	ENSP00000319623:R491W	R	-	1	2	IGDCC4	63474590	1.000000	0.71417	0.998000	0.56505	0.961000	0.63080	5.698000	0.68302	2.659000	0.90383	0.563000	0.77884	CGG		0.572	IGDCC4-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000256825.2	NM_020962		18	39	0	0	0	0.189662	0	18	39					A	65687537	G	A	65687537	3	1	178	1	0	0	0	0	1	0	0	0	7569	1057	37	2	2333	2	IGDCC4	15	65687537	Missense_Mutation	SNP	G	TCGA-G9-6494-01A-11D-1786-08		65687537	36843855	32	8384											
FOXL1	2300	broad.mit.edu	37	chr16	86612373	86612373	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gctgcctgccctggccgcctCgcccatgctgtatctgtacg	3	10	11	17	3	1	0	0	0	1	0	2	0	1	0	5	1	4	4	5	1	2	2			TCGA-G9-6494-01A-11D-1786-08	TCGA-G9-6494-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d67b53-8534-402e-b082-1b75ec2aff1e	2821a5f1-f23f-467c-aa21-b9a0f8d623d8	g.chr16:86612373C>T	ENST00000320241.3	+	1	259	c.44C>T	c.(43-45)tCg>tTg	p.S15L		NM_005250.2	NP_005241.1	Q12952	FOXL1_HUMAN	forkhead box L1	15					heart development (GO:0007507)|multicellular organismal development (GO:0007275)|organ morphogenesis (GO:0009887)|Peyer's patch morphogenesis (GO:0061146)|proteoglycan biosynthetic process (GO:0030166)|regulation of Wnt signaling pathway (GO:0030111)|transcription, DNA-templated (GO:0006351)|visceral mesoderm-endoderm interaction involved in midgut development (GO:0007495)	nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA binding, bending (GO:0008301)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.S15L(1)		central_nervous_system(1)|endometrium(5)|large_intestine(2)|lung(2)|prostate(3)|skin(1)|urinary_tract(1)	15						CTGGCCGCCTCGCCCATGCTG	0.726																																					NSCLC(163;308 2020 10889 11476 18208)	ENST00000320241.3																			1	Substitution - Missense(1)	p.S15L(1)	prostate(1)	central_nervous_system(1)|endometrium(5)|large_intestine(2)|lung(2)|prostate(3)|skin(1)|urinary_tract(1)	15						c.(43-45)tCg>tTg		forkhead box L1							33	37	36					16																	86612373		2194	4290	6484	SO:0001583	missense	2300				brain development|camera-type eye development|cartilage development|embryo development|forelimb morphogenesis|heart development|organ morphogenesis|pattern specification process|proteoglycan biosynthetic process|regulation of sequence-specific DNA binding transcription factor activity|regulation of Wnt receptor signaling pathway|visceral mesoderm-endoderm interaction involved in midgut development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chr16:86612373C>T	AF315075	CCDS10959.1	16q24	2014-07-15			ENSG00000176678	ENSG00000176678		"Forkhead boxes"	3817	protein-coding gene	gene with protein product		603252		FKHL11		7957066	Standard	NM_005250		Approved	FREAC7, FKH6	uc002fjr.3	Q12952	OTTHUMG00000137653	ENST00000320241.3:c.44C>T	16.37:g.86612373C>T	ENSP00000326272:p.Ser15Leu						p.S15L	NM_005250.2	NP_005241.1	Q12952	FOXL1_HUMAN			1	259	+			15					Q17RR1|Q9H242	Missense_Mutation	SNP	ENST00000320241.3	37	c.44C>T	CCDS10959.1	.	.	.	.	.	.	.	.	.	.	C	12.19	1.862240	0.32884	.	.	ENSG00000176678	ENST00000320241	D	0.94184	-3.37	4.39	3.42	0.39159	.	0.227088	0.36167	U	0.002748	D	0.84406	0.5465	N	0.14661	0.345	0.20764	N	0.999855	D	0.54772	0.968	B	0.38264	0.269	T	0.76913	-0.2783	10	0.33940	T	0.23	.	12.7024	0.57041	0.1661:0.8339:0.0:0.0	.	15	Q12952	FOXL1_HUMAN	L	15	ENSP00000326272:S15L	ENSP00000326272:S15L	S	+	2	0	FOXL1	85169874	0.972000	0.33761	0.995000	0.50966	0.126000	0.20510	4.492000	0.60334	1.029000	0.39812	0.563000	0.77884	TCG		0.726	FOXL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269105.2	NM_005250		18	73	0	0	0	0.175082	0	18	73					T	86612373	C	T	86612373	3	4	178	1	0	0	0	0	1	0	0	0	6016	893	31	2	46	2	FOXL1	16	86612373	Missense_Mutation	SNP	C	TCGA-G9-6494-01A-11D-1786-08		86612373	3742380	33	8385											
GLP2R	9340	broad.mit.edu	37	chr17	9739734	9739734	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cagtacgtgtgttggcctcaTtcttctcctggaaatgtctc	6	15	9	11	1	4	0	1	0	3	0	6	1	4	1	2	2	1	2	2	2	2	4			TCGA-G9-6494-01A-11D-1786-08	TCGA-G9-6494-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d67b53-8534-402e-b082-1b75ec2aff1e	2821a5f1-f23f-467c-aa21-b9a0f8d623d8	g.chr17:9739734T>A	ENST00000262441.5	+	3	837	c.324T>A	c.(322-324)caT>caA	p.H108Q	GLP2R_ENST00000574745.1_5'UTR	NM_004246.1	NP_004237.1	O95838	GLP2R_HUMAN	glucagon-like peptide 2 receptor	108					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|positive regulation of cell proliferation (GO:0008284)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|glucagon receptor activity (GO:0004967)	p.H108Q(1)		endometrium(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	44					Glucagon recombinant(DB00040)|Teduglutide(DB08900)	GTTGGCCTCATTCTTCTCCTG	0.428																																						ENST00000262441.5																			1	Substitution - Missense(1)	p.H108Q(1)	prostate(1)	endometrium(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	44						c.(322-324)caT>caA		glucagon-like peptide 2 receptor	Glucagon recombinant(DB00040)						356	322	334					17																	9739734		2203	4300	6503	SO:0001583	missense	9340				G-protein signaling, coupled to cAMP nucleotide second messenger|positive regulation of cell proliferation	integral to membrane|plasma membrane		g.chr17:9739734T>A	AF105367	CCDS11150.1	17p13.3	2012-08-10			ENSG00000065325	ENSG00000065325		"GPCR / Class B : Glucagon receptors"	4325	protein-coding gene	gene with protein product		603659				9990065	Standard	NM_004246		Approved		uc002gmd.1	O95838	OTTHUMG00000130269	ENST00000262441.5:c.324T>A	17.37:g.9739734T>A	ENSP00000262441:p.His108Gln					GLP2R_ENST00000574745.1_5'UTR	p.H108Q	NM_004246.1	NP_004237.1	O95838	GLP2R_HUMAN			3	837	+			108					Q4VAT3	Missense_Mutation	SNP	ENST00000262441.5	37	c.324T>A	CCDS11150.1	.	.	.	.	.	.	.	.	.	.	T	19.08	3.758004	0.69648	.	.	ENSG00000065325	ENST00000396206;ENST00000304773;ENST00000262441	T	0.52295	0.67	5.58	3.4	0.38934	GPCR, family 2, secretin-like, conserved site (1);GPCR, family 2, extracellular hormone receptor domain (2);	0.000000	0.39407	N	0.001372	T	0.52964	0.1767	L	0.42529	1.33	0.43317	D	0.995335	D	0.58620	0.983	D	0.67900	0.954	T	0.46652	-0.9176	10	0.31617	T	0.26	.	7.2482	0.26133	0.0:0.244:0.0:0.756	.	108	O95838	GLP2R_HUMAN	Q	108;83;108	ENSP00000262441:H108Q	ENSP00000262441:H108Q	H	+	3	2	GLP2R	9680459	1.000000	0.71417	0.999000	0.59377	0.957000	0.61999	1.342000	0.33919	0.965000	0.38133	0.460000	0.39030	CAT		0.428	GLP2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252601.4			15	140	0	0	0	0.189662	0	15	140					A	9739734	T	A	9739734	3	1	178	1	0	0	0	0	1	0	0	0	6453	1490	52	5	334	5	GLP2R	17	9739734	Missense_Mutation	SNP	T	TCGA-G9-6494-01A-11D-1786-08		9739734	71455476	34	8386											
MYH4	4622	broad.mit.edu	37	chr17	10356642	10356642	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catctcttctgtgaggttttTcacctttagattagaacaga	10	16	7	8	0	3	4	1	1	2	3	4	4	3	4	1	1	1	1	1	1	3	6			TCGA-G9-6494-01A-11D-1786-08	TCGA-G9-6494-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d67b53-8534-402e-b082-1b75ec2aff1e	2821a5f1-f23f-467c-aa21-b9a0f8d623d8	g.chr17:10356642T>G	ENST00000255381.2	-	24	3048	c.2938A>C	c.(2938-2940)Aaa>Caa	p.K980Q	RP11-799N11.1_ENST00000581304.1_RNA|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	980					actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|membrane organization (GO:0061024)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|response to activity (GO:0014823)	muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|microfilament motor activity (GO:0000146)	p.K980Q(1)		NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						GTGAGGTTTTTCACCTTTAGA	0.438																																						ENST00000255381.2																			1	Substitution - Missense(1)	p.K980Q(1)	prostate(1)	NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						c.(2938-2940)Aaa>Caa		myosin, heavy chain 4, skeletal muscle							144	133	137					17																	10356642		2203	4300	6503	SO:0001583	missense	4622				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr17:10356642T>G		CCDS11154.1	17p13.1	2013-09-19	2006-09-29		ENSG00000264424	ENSG00000264424		"Myosins / Myosin superfamily : Class II"	7574	protein-coding gene	gene with protein product		160742	"myosin, heavy polypeptide 4, skeletal muscle"			8518795	Standard	NM_017533		Approved	MYH2B, MyHC-2B, MyHC-IIb	uc002gmn.3	Q9Y623	OTTHUMG00000130365	ENST00000255381.2:c.2938A>C	17.37:g.10356642T>G	ENSP00000255381:p.Lys980Gln					CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA	p.K980Q	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN			24	3048	-			980						Missense_Mutation	SNP	ENST00000255381.2	37	c.2938A>C	CCDS11154.1	.	.	.	.	.	.	.	.	.	.	T	17.59	3.427210	0.62733	.	.	ENSG00000141048	ENST00000255381	D	0.95622	-3.76	5.19	4.08	0.47627	.	0.000000	0.39834	U	0.001253	D	0.98277	0.9429	H	0.96662	3.86	0.50039	D	0.999844	D	0.69078	0.997	D	0.69479	0.964	D	0.98362	1.0549	10	0.87932	D	0	.	11.9508	0.52954	0.0:0.0:0.1457:0.8543	.	980	Q9Y623	MYH4_HUMAN	Q	980	ENSP00000255381:K980Q	ENSP00000255381:K980Q	K	-	1	0	MYH4	10297367	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	7.816000	0.86201	0.879000	0.35944	0.482000	0.46254	AAA		0.438	MYH4-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252731.1	NM_017533		38	90	0	0	0	0.214465	0	38	90					G	10356642	T	G	10356642	3	3	178	1	0	0	0	0	1	0	0	0	10037	1792	62	5	2949	5	MYH4	17	10356642	Missense_Mutation	SNP	T	TCGA-G9-6494-01A-11D-1786-08	616908	10356642	70838568	35	8387											
TOP2A	7153	broad.mit.edu	37	chr17	38555127	38555127	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gttggtccagaatctgttacGgagtcactcttttcagtttc	7	16	9	9	1	4	1	2	0	2	1	6	2	5	2	1	2	1	3	1	2	2	5			TCGA-G9-6494-01A-11D-1786-08	TCGA-G9-6494-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d67b53-8534-402e-b082-1b75ec2aff1e	2821a5f1-f23f-467c-aa21-b9a0f8d623d8	g.chr17:38555127G>T	ENST00000423485.1	-	26	3509	c.3351C>A	c.(3349-3351)tcC>tcA	p.S1117S		NM_001067.3	NP_001058.2	P11388	TOP2A_HUMAN	topoisomerase (DNA) II alpha 170kDa	1117					apoptotic chromosome condensation (GO:0030263)|ATP catabolic process (GO:0006200)|cellular response to DNA damage stimulus (GO:0006974)|chromosome segregation (GO:0007059)|DNA ligation (GO:0006266)|DNA topological change (GO:0006265)|DNA unwinding involved in DNA replication (GO:0006268)|embryonic cleavage (GO:0040016)|hematopoietic progenitor cell differentiation (GO:0002244)|mitotic cell cycle (GO:0000278)|mitotic DNA integrity checkpoint (GO:0044774)|mitotic recombination (GO:0006312)|positive regulation of apoptotic process (GO:0043065)|positive regulation of single stranded viral RNA replication via double stranded DNA intermediate (GO:0045870)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of viral genome replication (GO:0045070)|resolution of meiotic recombination intermediates (GO:0000712)|sister chromatid segregation (GO:0000819)	condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|DNA topoisomerase complex (ATP-hydrolyzing) (GO:0009330)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA binding, bending (GO:0008301)|DNA topoisomerase type II (ATP-hydrolyzing) activity (GO:0003918)|DNA-dependent ATPase activity (GO:0008094)|drug binding (GO:0008144)|enzyme binding (GO:0019899)|histone deacetylase binding (GO:0042826)|magnesium ion binding (GO:0000287)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase C binding (GO:0005080)|ubiquitin binding (GO:0043130)	p.S1117S(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(9)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	39		Breast(137;0.00328)	STAD - Stomach adenocarcinoma(5;0.00183)		Amsacrine(DB00276)|Ciprofloxacin(DB00537)|Dactinomycin(DB00970)|Daunorubicin(DB00694)|Dexrazoxane(DB00380)|Doxorubicin(DB00997)|Enoxacin(DB00467)|Epirubicin(DB00445)|Etoposide(DB00773)|Fleroxacin(DB04576)|Idarubicin(DB01177)|Levofloxacin(DB01137)|Lomefloxacin(DB00978)|Lucanthone(DB04967)|Mitoxantrone(DB01204)|Moxifloxacin(DB00218)|Norfloxacin(DB01059)|Ofloxacin(DB01165)|Pefloxacin(DB00487)|Podofilox(DB01179)|Sparfloxacin(DB01208)|Teniposide(DB00444)|Trovafloxacin(DB00685)|Valrubicin(DB00385)	AATCTGTTACGGAGTCACTCT	0.353																																						ENST00000423485.1																			1	Substitution - coding silent(1)	p.S1117S(1)	prostate(1)	breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(9)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	39						c.(3349-3351)tcC>tcA		topoisomerase (DNA) II alpha 170kDa	Amsacrine(DB00276)|Ciprofloxacin(DB00537)|Dexrazoxane(DB00380)|Doxorubicin(DB00997)|Enoxacin(DB00467)|Epirubicin(DB00445)|Etoposide(DB00773)|Fleroxacin(DB04576)|Gatifloxacin(DB01044)|Idarubicin(DB01177)|Levofloxacin(DB01137)|Lomefloxacin(DB00978)|Lucanthone(DB04967)|Mitoxantrone(DB01204)|Moxifloxacin(DB00218)|Norfloxacin(DB01059)|Ofloxacin(DB01165)|Pefloxacin(DB00487)|Podofilox(DB01179)|Sparfloxacin(DB01208)|Teniposide(DB00444)|Trovafloxacin(DB00685)|Valrubicin(DB00385)						168	150	155					17																	38555127		1851	4097	5948	SO:0001819	synonymous_variant	7153				apoptotic chromosome condensation|DNA ligation|DNA repair|DNA topological change|DNA-dependent DNA replication|mitotic cell cycle G2/M transition decatenation checkpoint|mitotic recombination|phosphatidylinositol-mediated signaling|positive regulation of apoptosis|positive regulation of retroviral genome replication|resolution of meiotic recombination intermediates|sister chromatid segregation	cytoplasm|DNA topoisomerase complex (ATP-hydrolyzing)|nucleolus|nucleoplasm|synaptonemal complex	ATP binding|chromatin binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA-dependent ATPase activity|drug binding|histone deacetylase binding|protein C-terminus binding|protein heterodimerization activity|protein homodimerization activity|protein kinase C binding|sequence-specific DNA binding transcription factor activity|ubiquitin binding	g.chr17:38555127G>T		CCDS45672.1	17q21-q22	2008-08-06	2002-08-29		ENSG00000131747	ENSG00000131747	5.99.1.2		11989	protein-coding gene	gene with protein product		126430	"topoisomerase (DNA) II alpha (170kD)"	TOP2			Standard	NM_001067		Approved		uc002huq.3	P11388	OTTHUMG00000155008	ENST00000423485.1:c.3351C>A	17.37:g.38555127G>T							p.S1117S	NM_001067.3	NP_001058.2	P11388	TOP2A_HUMAN	STAD - Stomach adenocarcinoma(5;0.00183)		26	3509	-		Breast(137;0.00328)	1117					B2RTS1|Q71UN1|Q71UQ5|Q9HB24|Q9HB25|Q9HB26|Q9UP44|Q9UQP9	Silent	SNP	ENST00000423485.1	37	c.3351C>A	CCDS45672.1																																																																																				0.353	TOP2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338035.1			8	57	1	0	0.000157383	0.038147	0.000175745	8	57					T	38555127	G	T	38555127	2	4	178	1	0	0	0	0	0	0	0	1	16362	1103	39	5		5	TOP2A	17	38555127	Silent	SNP	G	TCGA-G9-6494-01A-11D-1786-08	28198485	38555127	42640083	36	8388											
CCDC57	284001	broad.mit.edu	37	chr17	80129645	80129645	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgaggacatctttaaaggaTccaacacatcttctagatgc	13	11	8	9	0	3	2	0	1	3	1	4	4	4	4	1	2	2	0	1	2	4	4			TCGA-G9-6494-01A-11D-1786-08	TCGA-G9-6494-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d67b53-8534-402e-b082-1b75ec2aff1e	2821a5f1-f23f-467c-aa21-b9a0f8d623d8	g.chr17:80129645T>C	ENST00000389641.4	-	12	1850	c.1814A>G	c.(1813-1815)gAt>gGt	p.D605G	CCDC57_ENST00000392343.3_Missense_Mutation_p.D605G|CCDC57_ENST00000327026.3_5'UTR|CCDC57_ENST00000392347.1_Missense_Mutation_p.D605G			Q2TAC2	CCD57_HUMAN	coiled-coil domain containing 57	605								p.D605G(2)		endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(1)	16	Breast(20;0.00285)|all_neural(118;0.0878)|all_lung(278;0.0949)|Lung NSC(278;0.128)|Ovarian(332;0.227)		BRCA - Breast invasive adenocarcinoma(99;0.0232)|OV - Ovarian serous cystadenocarcinoma(97;0.0253)			CTTTAAAGGATCCAACACATC	0.468																																						ENST00000392347.1																			2	Substitution - Missense(2)	p.D605G(2)	prostate(2)	endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(1)	16						c.(1813-1815)gAt>gGt		coiled-coil domain containing 57							126	130	129					17																	80129645		1925	4129	6054	SO:0001583	missense	284001							g.chr17:80129645T>C	BC040264		17q25.3	2006-03-08			ENSG00000176155	ENSG00000176155			27564	protein-coding gene	gene with protein product						12477932	Standard	XM_006722279		Approved	FLJ00130, FLJ23754	uc002kdx.1	Q2TAC2	OTTHUMG00000140396	ENST00000389641.4:c.1814A>G	17.37:g.80129645T>C	ENSP00000374292:p.Asp605Gly					CCDC57_ENST00000392343.3_Missense_Mutation_p.D605G|CCDC57_ENST00000327026.3_5'UTR|CCDC57_ENST00000389641.4_Missense_Mutation_p.D605G	p.D605G	NM_198082.2	NP_932348.2	Q2TAC2	CCD57_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0232)|OV - Ovarian serous cystadenocarcinoma(97;0.0253)		12	1850	-	Breast(20;0.00285)|all_neural(118;0.0878)|all_lung(278;0.0949)|Lung NSC(278;0.128)|Ovarian(332;0.227)		605					A6NP51|A8MQC7|Q8IWG2|Q8TER3	Missense_Mutation	SNP	ENST00000389641.4	37	c.1814A>G		.	.	.	.	.	.	.	.	.	.	T	10.28	1.307980	0.23821	.	.	ENSG00000176155	ENST00000389641;ENST00000392347;ENST00000327026;ENST00000392343	T;T;T	0.23950	3.05;3.05;1.88	3.61	-0.0915	0.13661	.	0.802256	0.10584	N	0.657582	T	0.19446	0.0467	L	0.44542	1.39	0.09310	N	1	P;B	0.36535	0.557;0.004	B;B	0.36845	0.234;0.003	T	0.19418	-1.0306	10	0.62326	D	0.03	-3.5579	4.4716	0.11715	0.0:0.1135:0.4015:0.485	.	605;605	Q2TAC2-2;Q2TAC2	.;CCD57_HUMAN	G	605;605;113;605	ENSP00000374292:D605G;ENSP00000376158:D605G;ENSP00000376154:D605G	ENSP00000315967:D113G	D	-	2	0	CCDC57	77722934	0.001000	0.12720	0.000000	0.03702	0.005000	0.04900	0.856000	0.27818	-0.055000	0.13244	0.459000	0.35465	GAT		0.468	CCDC57-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000277182.3	NM_198082		5	92	0	0	0	0.184627	0	5	92					C	80129645	T	C	80129645	3	2	178	1	0	0	0	0	1	0	0	0	2827	1435	50	4	957	4	CCDC57	17	80129645	Missense_Mutation	SNP	T	TCGA-G9-6494-01A-11D-1786-08	41574518	80129645	1065565	37	8389											
MUC16	94025	broad.mit.edu	37	chr19	9064360	9064360	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacaggatgaggtgaggtcaCggcaggtaaagacagcgggg	13	4	18	6	2	1	3	1	2	0	1	1	4	1	4	0	7	2	2	0	7	3	1			TCGA-G9-6494-01A-11D-1786-08	TCGA-G9-6494-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d67b53-8534-402e-b082-1b75ec2aff1e	2821a5f1-f23f-467c-aa21-b9a0f8d623d8	g.chr19:9064360C>T	ENST00000397910.4	-	3	23289	c.23086G>A	c.(23086-23088)Gtg>Atg	p.V7696M		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	7698	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)		p.V7696M(2)|p.V3329M(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GGTGAGGTCACGGCAGGTAAA	0.582																																						ENST00000397910.4																			3	Substitution - Missense(3)	p.V7696M(2)|p.V3329M(1)	prostate(3)	NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(23086-23088)Gtg>Atg		mucin 16, cell surface associated							89	97	94					19																	9064360		2057	4189	6246	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9064360C>T	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.23086G>A	19.37:g.9064360C>T	ENSP00000381008:p.Val7696Met						p.V7696M	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			3	23289	-			7698			Ser-rich.|Thr-rich.		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.23086G>A	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	N	1.467	-0.560793	0.03939	.	.	ENSG00000181143	ENST00000397910	T	0.20069	2.1	2.22	-2.35	0.06684	.	.	.	.	.	T	0.09113	0.0225	N	0.12182	0.205	.	.	.	B	0.06786	0.001	B	0.06405	0.002	T	0.25012	-1.0144	8	0.87932	D	0	.	1.0026	0.01480	0.1728:0.1825:0.1463:0.4985	.	7696	B5ME49	.	M	7696	ENSP00000381008:V7696M	ENSP00000381008:V7696M	V	-	1	0	MUC16	8925360	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-4.741000	0.00191	-2.163000	0.00783	-2.597000	0.00163	GTG		0.582	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		16	56	0	0	0	0.160694	0	16	56					T	9064360	C	T	9064360	3	4	178	1	0	0	0	0	1	0	0	0	9973	536	19	1	20765	1	MUC16	19	9064360	Missense_Mutation	SNP	C	TCGA-G9-6494-01A-11D-1786-08		9064360	50064623	38	8390											
ZNF799	90576	broad.mit.edu	37	chr19	12501649	12501649	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccagagtgaattctttcatgTacttttaagttaccaaaatg	13	15	6	7	0	2	2	1	1	1	1	2	2	2	2	2	0	2	2	2	0	6	6			TCGA-G9-6494-01A-11D-1786-08	TCGA-G9-6494-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d67b53-8534-402e-b082-1b75ec2aff1e	2821a5f1-f23f-467c-aa21-b9a0f8d623d8	g.chr19:12501649T>A	ENST00000430385.3	-	4	1763	c.1563A>T	c.(1561-1563)gtA>gtT	p.V521V	ZNF799_ENST00000419318.1_Silent_p.V489V|CTD-3105H18.14_ENST00000435033.1_Intron	NM_001080821.2	NP_001074290.1	Q96GE5	ZN799_HUMAN	zinc finger protein 799	521					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.V308V(1)|p.V521V(1)		breast(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(2)	19						TTCTTTCATGTACTTTTAAGT	0.388																																						ENST00000419318.1																			2	Substitution - coding silent(2)	p.V308V(1)|p.V521V(1)	prostate(2)	breast(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(2)	19						c.(1465-1467)gtA>gtT		zinc finger protein 799							91	94	93					19																	12501649		2198	4300	6498	SO:0001819	synonymous_variant	90576				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12501649T>A	BC009517	CCDS45989.1	19p13.2	2013-01-08			ENSG00000196466	ENSG00000196466		"Zinc fingers, C2H2-type", "-"	28071	protein-coding gene	gene with protein product			"zinc finger protein 842"	ZNF842			Standard	NM_001080821		Approved	HIT-40, MGC71805	uc002mts.4	Q96GE5	OTTHUMG00000156408	ENST00000430385.3:c.1563A>T	19.37:g.12501649T>A						ZNF799_ENST00000430385.3_Silent_p.V521V|CTD-3105H18.14_ENST00000435033.1_Intron	p.V489V			Q96GE5	ZN799_HUMAN			4	2216	-			521						Silent	SNP	ENST00000430385.3	37	c.1467A>T	CCDS45989.1																																																																																				0.388	ZNF799-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344099.2	NM_001080821		5	76	0	0	0	0.184627	0	5	76					A	12501649	T	A	12501649	2	1	178	1	0	0	0	0	0	0	0	1	18163	1625	57	5		5	ZNF799	19	12501649	Silent	SNP	T	TCGA-G9-6494-01A-11D-1786-08	3437289	12501649	46627334	39	8391											
CCDC8	83987	broad.mit.edu	37	chr19	46915974	46915974	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgaaattctgcttccttggTggcgggcttagagatgactc	7	12	12	10	2	1	2	0	1	1	1	3	4	2	2	2	3	1	2	2	3	2	4			TCGA-G9-6494-01A-11D-1786-08	TCGA-G9-6494-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d67b53-8534-402e-b082-1b75ec2aff1e	2821a5f1-f23f-467c-aa21-b9a0f8d623d8	g.chr19:46915974T>C	ENST00000307522.3	-	1	867	c.94A>G	c.(94-96)Acc>Gcc	p.T32A		NM_032040.4	NP_114429.2	Q9H0W5	CCDC8_HUMAN	coiled-coil domain containing 8	32					microtubule cytoskeleton organization (GO:0000226)|negative regulation of phosphatase activity (GO:0010923)|regulation of mitosis (GO:0007088)	3M complex (GO:1990393)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)		p.T32A(1)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(262;4.66e-05)|all cancers(93;0.000582)|Epithelial(262;0.00428)|GBM - Glioblastoma multiforme(486;0.0421)		gcttccttggtggcgggctta	0.637																																						ENST00000307522.3																			1	Substitution - Missense(1)	p.T32A(1)	prostate(1)	breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	23						c.(94-96)Acc>Gcc		coiled-coil domain containing 8							47	50	49					19																	46915974		2203	4300	6503	SO:0001583	missense	83987					plasma membrane		g.chr19:46915974T>C	BC025243	CCDS12685.1	19q13.33	2012-04-17			ENSG00000169515	ENSG00000169515		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	25367	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 20"	614145				11230166	Standard	NM_032040		Approved	DKFZp564K0322, 3M3, PPP1R20	uc002pep.3	Q9H0W5	OTTHUMG00000162348	ENST00000307522.3:c.94A>G	19.37:g.46915974T>C	ENSP00000303158:p.Thr32Ala						p.T32A	NM_032040.4	NP_114429.2	Q9H0W5	CCDC8_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;4.66e-05)|all cancers(93;0.000582)|Epithelial(262;0.00428)|GBM - Glioblastoma multiforme(486;0.0421)	1	867	-			32					Q8TB26	Missense_Mutation	SNP	ENST00000307522.3	37	c.94A>G	CCDS12685.1	.	.	.	.	.	.	.	.	.	.	T	14.12	2.439411	0.43326	.	.	ENSG00000169515	ENST00000307522;ENST00000540252	T	0.09630	2.96	3.6	2.58	0.30949	.	0.000000	0.41823	D	0.000820	T	0.11665	0.0284	M	0.64997	1.995	0.28034	N	0.934006	P	0.35507	0.506	B	0.36959	0.237	T	0.09796	-1.0658	10	0.54805	T	0.06	-18.4885	5.5527	0.17099	0.0:0.126:0.0:0.874	.	32	Q9H0W5	CCDC8_HUMAN	A	32	ENSP00000303158:T32A	ENSP00000303158:T32A	T	-	1	0	CCDC8	51607814	1.000000	0.71417	0.965000	0.40720	0.875000	0.50365	2.344000	0.44010	0.747000	0.32809	0.402000	0.26972	ACC		0.637	CCDC8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368598.1	NM_032040		3	78	0	0	0	0.115264	0	3	78					C	46915974	T	C	46915974	3	2	178	1	0	0	0	0	1	0	0	0	2853	1696	59	4	1526	4	CCDC8	19	46915974	Missense_Mutation	SNP	T	TCGA-G9-6494-01A-11D-1786-08	34414325	46915974	12213009	40	8392											
KLK2	3817	broad.mit.edu	37	chr19	51379825	51379826	+	Frame_Shift_Del	DEL	AA	AA	-																															gcttcccacacccgctctacAatatgagccttctgaagcat																										TCGA-G9-6494-01A-11D-1786-08	TCGA-G9-6494-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d67b53-8534-402e-b082-1b75ec2aff1e	2821a5f1-f23f-467c-aa21-b9a0f8d623d8	g.chr19:51379825_51379826delAA	ENST00000325321.3	+	3	529_530	c.304_305delAA	c.(304-306)aatfs	p.N102fs	KLK2_ENST00000358049.4_Frame_Shift_Del_p.N102fs|AC037199.1_ENST00000594218.1_5'Flank|KLK2_ENST00000391810.2_5'UTR			P20151	KLK2_HUMAN	kallikrein-related peptidase 2	102	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase activity (GO:0004252)		KLK2/ETV1(3)|KLK2/ETV4(2)	large_intestine(3)|lung(6)|ovary(1)|skin(1)	11		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00758)|GBM - Glioblastoma multiforme(134;0.00871)		CCCGCTCTACAATATGAGCCTT	0.554			T	ETV4	prostate																																	ENST00000325321.3				Dom	yes		19	19q13.41	3817	T	kallikrein-related peptidase 2			E	ETV4		prostate	KLK2/ETV1(3)|KLK2/ETV4(2)	0				large_intestine(3)|lung(6)|ovary(1)|skin(1)	11						c.(304-306)tfs		kallikrein-related peptidase 2																																				SO:0001589	frameshift_variant	3817				proteolysis		serine-type endopeptidase activity	g.chr19:51379825_51379826delAA	M18157	CCDS12808.1, CCDS42597.1, CCDS58675.1	19q13.33	2008-02-05	2006-10-27				3.4.21.35	"Kallikreins"	6363	protein-coding gene	gene with protein product		147960	"kallikrein 2, prostatic"			2468530, 16800724, 16800723	Standard	NM_005551		Approved		uc002ptv.3	P20151		ENST00000325321.3:c.304_305delAA	19.37:g.51379825_51379826delAA	ENSP00000313581:p.Asn102fs					KLK2_ENST00000391810.2_5'UTR|KLK2_ENST00000358049.4_Frame_Shift_Del_p.N102fs	p.N102fs			P20151	KLK2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00758)|GBM - Glioblastoma multiforme(134;0.00871)	3	529_530	+		all_neural(266;0.026)	102			Peptidase S1.		B4DU93|B4DUB0|F5H8L3|Q15946|Q9UJZ9	Frame_Shift_Del	DEL	ENST00000325321.3	37	c.304_305delAA	CCDS12808.1																																																																																				0.554	KLK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464438.3	NM_005551.3		15	34						15	34	---	---	---	---	-	51379826	AA	-	51379825	7	5	178	1	0	1	0	1	0	0	0	0	8404	130	5	0	314	0	KLK2	19	51379825	Frame_Shift_Del	DEL	AA	TCGA-G9-6494-01A-11D-1786-08	4463851	51379825	7749158	41	8393											
TPX2	22974	broad.mit.edu	37	chr20	30363692	30363692	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaagtttctaaaaagtactGaggagcaagagctggagaag	17	7	13	4	0	1	4	0	1	1	3	1	6	1	5	0	2	3	4	0	2	7	3			TCGA-G9-6494-01A-11D-1786-08	TCGA-G9-6494-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d67b53-8534-402e-b082-1b75ec2aff1e	2821a5f1-f23f-467c-aa21-b9a0f8d623d8	g.chr20:30363692G>T	ENST00000300403.6	+	8	1159	c.631G>T	c.(631-633)Gag>Tag	p.E211*	TPX2_ENST00000340513.4_Nonsense_Mutation_p.E211*	NM_012112.4	NP_036244.2	Q9ULW0	TPX2_HUMAN	TPX2, microtubule-associated	211					activation of protein kinase activity (GO:0032147)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|mitotic nuclear division (GO:0007067)|regulation of mitotic spindle organization (GO:0060236)	axon hillock (GO:0043203)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)|spindle (GO:0005819)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|protein kinase binding (GO:0019901)	p.E211*(1)		cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28			Epithelial(4;0.000771)|Colorectal(19;0.00306)|all cancers(5;0.004)|COAD - Colon adenocarcinoma(19;0.0347)|OV - Ovarian serous cystadenocarcinoma(3;0.0656)			AAAAAGTACTGAGGAGCAAGA	0.418																																						ENST00000340513.4																			1	Substitution - Nonsense(1)	p.E211*(1)	prostate(1)	cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						c.(631-633)Gag>Tag		TPX2, microtubule-associated							79	84	82					20																	30363692		2203	4300	6503	SO:0001587	stop_gained	22974				activation of protein kinase activity|apoptosis|cell division|cell proliferation|mitosis|regulation of mitotic spindle organization	cytoplasm|microtubule|nucleus|spindle pole	ATP binding|GTP binding|protein kinase binding	g.chr20:30363692G>T	AF098158	CCDS13190.1	20q11.2	2013-07-23	2013-07-23	2003-10-08	ENSG00000088325	ENSG00000088325			1249	protein-coding gene	gene with protein product		605917	"chromosome 20 open reading frame 1", "TPX2, microtubule-associated, homolog (Xenopus laevis)"	C20orf2, C20orf1		9207457, 10393424	Standard	NM_012112		Approved	p100, DIL-2	uc002wwp.1	Q9ULW0	OTTHUMG00000032190	ENST00000300403.6:c.631G>T	20.37:g.30363692G>T	ENSP00000300403:p.Glu211*					TPX2_ENST00000300403.6_Nonsense_Mutation_p.E211*	p.E211*			Q9ULW0	TPX2_HUMAN	Epithelial(4;0.000771)|Colorectal(19;0.00306)|all cancers(5;0.004)|COAD - Colon adenocarcinoma(19;0.0347)|OV - Ovarian serous cystadenocarcinoma(3;0.0656)		8	1159	+			211					Q9H1R4|Q9NRA3|Q9UFN9|Q9UL00|Q9Y2M1	Nonsense_Mutation	SNP	ENST00000300403.6	37	c.631G>T	CCDS13190.1	.	.	.	.	.	.	.	.	.	.	G	41	9.141501	0.99078	.	.	ENSG00000088325	ENST00000300403;ENST00000340513	.	.	.	5.02	5.02	0.67125	.	0.061102	0.64402	D	0.000005	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.52906	T	0.07	-16.2082	17.8732	0.88817	0.0:0.0:1.0:0.0	.	.	.	.	X	211	.	ENSP00000300403:E211X	E	+	1	0	TPX2	29827353	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.775000	0.85489	2.773000	0.95371	0.655000	0.94253	GAG		0.418	TPX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078569.2			24	54	1	0	1.66031e-10	0.0918	1.95159e-10	24	54					T	30363692	G	T	30363692	4	4	178	1	0	0	0	0	0	1	0	0	16429	1291	45	5	653	5	TPX2	20	30363692	Nonsense_Mutation	SNP	G	TCGA-G9-6494-01A-11D-1786-08		30363692	32661828	42	8394											
LBP	3929	broad.mit.edu	37	chr20	36974956	36974956	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gagccctgccgtccatactgCtggcattgctgcttacgtcc	5	11	10	15	2	0	0	0	0	0	0	2	1	2	0	4	1	7	4	4	1	2	3			TCGA-G9-6494-01A-11D-1786-08	TCGA-G9-6494-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d67b53-8534-402e-b082-1b75ec2aff1e	2821a5f1-f23f-467c-aa21-b9a0f8d623d8	g.chr20:36974956C>T	ENST00000217407.2	+	1	198	c.37C>T	c.(37-39)Ctg>Ttg	p.L13L		NM_004139.3	NP_004130.2	P18428	LBP_HUMAN	lipopolysaccharide binding protein	13					acute-phase response (GO:0006953)|cellular defense response (GO:0006968)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to lipoteichoic acid (GO:0071223)|defense response to Gram-negative bacterium (GO:0050829)|defense response to Gram-positive bacterium (GO:0050830)|detection of molecule of bacterial origin (GO:0032490)|innate immune response (GO:0045087)|leukocyte chemotaxis involved in inflammatory response (GO:0002232)|lipopolysaccharide transport (GO:0015920)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|macrophage activation involved in immune response (GO:0002281)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of tumor necrosis factor production (GO:0032720)|opsonization (GO:0008228)|positive regulation of chemokine production (GO:0032722)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of macrophage activation (GO:0043032)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of respiratory burst involved in inflammatory response (GO:0060265)|positive regulation of toll-like receptor 4 signaling pathway (GO:0034145)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|positive regulation of tumor necrosis factor production (GO:0032760)|response to lipopolysaccharide (GO:0032496)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)	cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	lipopolysaccharide binding (GO:0001530)|lipoteichoic acid binding (GO:0070891)|receptor binding (GO:0005102)	p.L13L(1)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(16)|ovary(2)|prostate(1)|urinary_tract(1)	28		Myeloproliferative disorder(115;0.00878)				GTCCATACTGCTGGCATTGCT	0.617																																						ENST00000217407.2																			1	Substitution - coding silent(1)	p.L13L(1)	prostate(1)	central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(16)|ovary(2)|prostate(1)|urinary_tract(1)	28						c.(37-39)Ctg>Ttg		lipopolysaccharide binding protein							75	69	71					20																	36974956		2203	4300	6503	SO:0001819	synonymous_variant	3929				acute-phase response|cellular defense response|cellular response to lipoteichoic acid|defense response to Gram-negative bacterium|defense response to Gram-positive bacterium|detection of molecule of bacterial origin|innate immune response|lipid transport|lipopolysaccharide transport|lipopolysaccharide-mediated signaling pathway|macrophage activation involved in immune response|negative regulation of tumor necrosis factor production|opsonization|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of macrophage activation|positive regulation of respiratory burst involved in inflammatory response|positive regulation of toll-like receptor 4 signaling pathway|positive regulation of tumor necrosis factor production|Toll signaling pathway	extracellular space	Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|lipid binding|lipopolysaccharide binding|lipoteichoic acid binding|receptor binding	g.chr20:36974956C>T		CCDS13304.1	20q11.23	2011-08-16	2001-11-28		ENSG00000129988	ENSG00000129988		"BPI fold containing"	6517	protein-coding gene	gene with protein product	"BPI fold containing family D, member 2"	151990	"lipopolysaccharide-binding protein"			8432532	Standard	NM_004139		Approved	BPIFD2	uc002xic.2	P18428	OTTHUMG00000032447	ENST00000217407.2:c.37C>T	20.37:g.36974956C>T							p.L13L	NM_004139.3	NP_004130.2	P18428	LBP_HUMAN			1	198	+		Myeloproliferative disorder(115;0.00878)	13					B2R938|O43438|Q92672|Q9H403|Q9UD66	Silent	SNP	ENST00000217407.2	37	c.37C>T	CCDS13304.1																																																																																				0.617	LBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079174.2	NM_004139		11	117	0	0	0	0.080935	0	11	117					T	36974956	C	T	36974956	2	4	178	1	0	0	0	0	0	0	0	1	8651	796	28	3		3	LBP	20	36974956	Silent	SNP	C	TCGA-G9-6494-01A-11D-1786-08	6611264	36974956	26050564	43	8395											
ADA	100	broad.mit.edu	37	chr20	43257807	43257807	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gctgggagggcgatccctctCctcctggaaacaaaacagtg	10	7	12	12	1	1	0	0	0	1	0	4	3	3	2	3	3	2	1	3	3	3	0			TCGA-G9-6494-01A-11D-1786-08	TCGA-G9-6494-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d67b53-8534-402e-b082-1b75ec2aff1e	2821a5f1-f23f-467c-aa21-b9a0f8d623d8	g.chr20:43257807C>A	ENST00000372874.4	-	3	233	c.99G>T	c.(97-99)agG>agT	p.R33S	ADA_ENST00000537820.1_Missense_Mutation_p.R33S|ADA_ENST00000464097.1_5'Flank	NM_000022.2	NP_000013.2	P00813	ADA_HUMAN	adenosine deaminase	33					adenosine catabolic process (GO:0006154)|aging (GO:0007568)|cell adhesion (GO:0007155)|dATP catabolic process (GO:0046061)|deoxyadenosine catabolic process (GO:0006157)|embryonic digestive tract development (GO:0048566)|germinal center B cell differentiation (GO:0002314)|histamine secretion (GO:0001821)|hypoxanthine salvage (GO:0043103)|inosine biosynthetic process (GO:0046103)|liver development (GO:0001889)|lung alveolus development (GO:0048286)|negative regulation of adenosine receptor signaling pathway (GO:0060169)|negative regulation of circadian sleep/wake cycle, non-REM sleep (GO:0042323)|negative regulation of inflammatory response (GO:0050728)|negative regulation of leukocyte migration (GO:0002686)|negative regulation of mature B cell apoptotic process (GO:0002906)|negative regulation of mucus secretion (GO:0070256)|negative regulation of penile erection (GO:0060407)|negative regulation of thymocyte apoptotic process (GO:0070244)|nucleobase-containing small molecule metabolic process (GO:0055086)|Peyer's patch development (GO:0048541)|placenta development (GO:0001890)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of germinal center formation (GO:0002636)|positive regulation of heart rate (GO:0010460)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of T cell differentiation in thymus (GO:0033089)|positive regulation of T cell receptor signaling pathway (GO:0050862)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide salvage (GO:0032261)|purine ribonucleoside monophosphate biosynthetic process (GO:0009168)|purine-containing compound salvage (GO:0043101)|regulation of cell-cell adhesion mediated by integrin (GO:0033632)|response to drug (GO:0042493)|response to hydrogen peroxide (GO:0042542)|response to hypoxia (GO:0001666)|response to morphine (GO:0043278)|response to vitamin E (GO:0033197)|small molecule metabolic process (GO:0044281)|T cell activation (GO:0042110)|trophectodermal cell differentiation (GO:0001829)|xanthine biosynthetic process (GO:0046111)	cell junction (GO:0030054)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite cytoplasm (GO:0032839)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|lysosome (GO:0005764)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	adenosine deaminase activity (GO:0004000)|purine nucleoside binding (GO:0001883)|zinc ion binding (GO:0008270)	p.R33S(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|ovary(1)|pancreas(2)|prostate(3)|skin(2)|urinary_tract(1)	18		all_lung(126;1.24e-07)|Lung NSC(126;1.94e-07)|Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)		Adenosine(DB00640)|Dipyridamole(DB00975)|Edetic Acid(DB00974)|Nelarabine(DB01280)|Pentostatin(DB00552)|Theophylline(DB00277)|Vidarabine(DB00194)	CGATCCCTCTCCTCCTGGAAA	0.602									Adenosine Deaminase Deficiency																													ENST00000372874.4																			1	Substitution - Missense(1)	p.R33S(1)	prostate(1)	endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|ovary(1)|pancreas(2)|prostate(3)|skin(2)|urinary_tract(1)	18						c.(97-99)agG>agT		adenosine deaminase	Adenosine(DB00640)|Cladribine(DB00242)|Dipyridamole(DB00975)|Erythromycin(DB00199)|Fludarabine(DB01073)|Idoxuridine(DB00249)|Nelarabine(DB01280)|Pentostatin(DB00552)|Theophylline(DB00277)|Vidarabine(DB00194)						94	68	77					20																	43257807		2203	4300	6503	SO:0001583	missense	100	Adenosine Deaminase Deficiency	Familial Cancer Database	Severe Combined Immunodeficiency (SCID) due to ADA-deficiency	adenosine catabolic process|cell adhesion|hypoxanthine salvage|inosine biosynthetic process|negative regulation of adenosine receptor signaling pathway|purine nucleotide salvage|purine ribonucleoside monophosphate biosynthetic process|regulation of cell-cell adhesion mediated by integrin|response to hypoxia|T cell activation	cell junction|cytoplasmic membrane-bounded vesicle lumen|cytosol|external side of plasma membrane|lysosome	adenosine deaminase activity|protein binding|zinc ion binding	g.chr20:43257807C>A	X02994	CCDS13335.1	20q13.12	2014-09-17			ENSG00000196839	ENSG00000196839	3.5.4.4		186	protein-coding gene	gene with protein product		608958				6198240, 6090454	Standard	NM_000022		Approved		uc002xmj.3	P00813	OTTHUMG00000033081	ENST00000372874.4:c.99G>T	20.37:g.43257807C>A	ENSP00000361965:p.Arg33Ser					ADA_ENST00000537820.1_Missense_Mutation_p.R33S	p.R33S	NM_000022.2	NP_000013.2	P00813	ADA_HUMAN	COAD - Colon adenocarcinoma(18;0.00189)		3	233	-		all_lung(126;1.24e-07)|Lung NSC(126;1.94e-07)|Myeloproliferative disorder(115;0.0122)	33					Q53F92|Q6LA59	Missense_Mutation	SNP	ENST00000372874.4	37	c.99G>T	CCDS13335.1	.	.	.	.	.	.	.	.	.	.	C	9.648	1.140702	0.21205	.	.	ENSG00000196839	ENST00000372874;ENST00000537820	D;D	0.97066	-4.23;-4.23	5.84	2.78	0.32641	Adenosine/AMP deaminase (1);	0.238681	0.48286	D	0.000189	D	0.94295	0.8167	L	0.54965	1.715	0.38399	D	0.94561	B	0.16396	0.017	B	0.24006	0.05	D	0.89350	0.3660	10	0.37606	T	0.19	-13.2223	7.532	0.27689	0.0:0.5666:0.0:0.4334	.	33	P00813	ADA_HUMAN	S	33	ENSP00000361965:R33S;ENSP00000441818:R33S	ENSP00000361965:R33S	R	-	3	2	ADA	42691221	0.999000	0.42202	0.989000	0.46669	0.076000	0.17211	0.461000	0.21940	0.338000	0.23692	0.561000	0.74099	AGG		0.602	ADA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080509.2	NM_000022		14	66	1	0	4.3838e-07	0.105934	4.97821e-07	14	66					A	43257807	C	A	43257807	3	1	178	1	0	0	0	0	1	0	0	0	230	854	30	5	1032	5	ADA	20	43257807	Missense_Mutation	SNP	C	TCGA-G9-6494-01A-11D-1786-08	6282851	43257807	19767713	44	8396											
SFI1	9814	broad.mit.edu	37	chr22	32007282	32007282	+	Frame_Shift_Del	DEL	G	G	-																															gcaccatctgcagtgtgtcaGgaagagggtgaggctgacgg																										TCGA-G9-6494-01A-11D-1786-08	TCGA-G9-6494-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d67b53-8534-402e-b082-1b75ec2aff1e	2821a5f1-f23f-467c-aa21-b9a0f8d623d8	g.chr22:32007282delG	ENST00000400288.2	+	23	2513	c.2408delG	c.(2407-2409)aggfs	p.R803fs	SFI1_ENST00000414585.1_Frame_Shift_Del_p.R650fs|SFI1_ENST00000432498.1_Frame_Shift_Del_p.R772fs|SFI1_ENST00000443011.1_Frame_Shift_Del_p.R650fs|SFI1_ENST00000443326.1_Frame_Shift_Del_p.R721fs|SFI1_ENST00000400289.1_Frame_Shift_Del_p.R721fs|SFI1_ENST00000540643.1_Frame_Shift_Del_p.R748fs	NM_001007467.2	NP_001007468.1	A8K8P3	SFI1_HUMAN	Sfi1 homolog, spindle assembly associated (yeast)	803					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|negative regulation of phosphatase activity (GO:0010923)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)	phosphatase binding (GO:0019902)			NS(2)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)	38						CAGTGTGTCAGGAAGAGGGTG	0.622																																						ENST00000432498.1																			0				NS(2)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)	38						c.(2314-2316)agfs		Sfi1 homolog, spindle assembly associated (yeast)							28	34	32					22																	32007282		2117	4233	6350	SO:0001589	frameshift_variant	9814				G2/M transition of mitotic cell cycle	centriole|cytosol		g.chr22:32007282delG	AB011114	CCDS43004.1, CCDS43005.1, CCDS58803.1, CCDS58804.1	22q12.2	2014-06-13			ENSG00000198089	ENSG00000198089			29064	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 139"	612765				14504268	Standard	NM_001007467		Approved	KIAA0542, PISD, PPP1R139	uc003ale.4	A8K8P3	OTTHUMG00000030249	ENST00000400288.2:c.2408delG	22.37:g.32007282delG	ENSP00000383145:p.Arg803fs					SFI1_ENST00000400289.1_Frame_Shift_Del_p.R721fs|SFI1_ENST00000540643.1_Frame_Shift_Del_p.R748fs|SFI1_ENST00000443011.1_Frame_Shift_Del_p.R650fs|SFI1_ENST00000443326.1_Frame_Shift_Del_p.R721fs|SFI1_ENST00000414585.1_Frame_Shift_Del_p.R650fs|SFI1_ENST00000400288.2_Frame_Shift_Del_p.R803fs	p.R772fs	NM_014775.3	NP_055590.2	A8K8P3	SFI1_HUMAN			22	2708	+			803					A1L373|A1L387|A2A2L2|B1AKL9|B5MDB7|B7Z1V6|B7Z8G3|B7ZBE2|B7ZBE3|O60289|Q2TAN8|Q5W1B5|Q86TK0|Q8N4U8|Q8N8C1|Q8WU14	Frame_Shift_Del	DEL	ENST00000400288.2	37	c.2315delG	CCDS43004.1																																																																																				0.622	SFI1-023	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337180.3	NM_014775		10	26						10	26	---	---	---	---	-	32007282	G	-	32007282	7	5	178	1	0	1	0	1	0	0	0	0	14156	1000	35	0	2494	0	SFI1	22	32007282	Frame_Shift_Del	DEL	G	TCGA-G9-6494-01A-11D-1786-08		32007282	19297284	45	8397											
PCDH11Y	83259	broad.mit.edu	37	chrY	4966872	4966872	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aattgctctcataactgtgaCggataaggatgcggaccata	13	10	10	8	2	1	1	1	1	1	0	2	4	1	4	1	3	3	1	1	3	4	4			TCGA-G9-6494-01A-11D-1786-08	TCGA-G9-6494-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d67b53-8534-402e-b082-1b75ec2aff1e	2821a5f1-f23f-467c-aa21-b9a0f8d623d8	g.chrY:4966872C>T	ENST00000333703.4	+	5	1733	c.1220C>T	c.(1219-1221)aCg>aTg	p.T407M	PCDH11Y_ENST00000362095.5_Missense_Mutation_p.T418M|PCDH11Y_ENST00000215473.6_Missense_Mutation_p.T418M	NM_001278619.1|NM_032971.2	NP_001265548.1|NP_116753.1	Q9BZA8	PC11Y_HUMAN	protocadherin 11 Y-linked	418	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.T407M(1)|p.T418M(1)		autonomic_ganglia(1)|kidney(2)|large_intestine(7)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						ATAACTGTGACGGATAAGGAT	0.413																																						ENST00000333703.4																			2	Substitution - Missense(2)	p.T407M(1)|p.T418M(1)	prostate(2)	autonomic_ganglia(1)|kidney(2)|large_intestine(7)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						c.(1219-1221)aCg>aTg		protocadherin 11 Y-linked																																				SO:0001583	missense	83259				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chrY:4966872C>T	AF332217	CCDS14776.1, CCDS14777.1, CCDS76066.1	Yp11.2	2010-01-26	2002-05-22	2002-05-24	ENSG00000099715	ENSG00000099715		"Cadherins / Protocadherins : Non-clustered"	15813	protein-coding gene	gene with protein product		400022	"protocadherin 22"	PCDH22		10644456, 11003707	Standard	NM_032971		Approved	PCDHY	uc004fqo.3	Q9BZA8	OTTHUMG00000035105	ENST00000333703.4:c.1220C>T	Y.37:g.4966872C>T	ENSP00000330552:p.Thr407Met					PCDH11Y_ENST00000215473.6_Missense_Mutation_p.T418M|PCDH11Y_ENST00000362095.5_Missense_Mutation_p.T418M	p.T407M	NM_001278619.1|NM_032971.2	NP_001265548.1|NP_116753.1	Q9BZA8	PC11Y_HUMAN			5	1733	+			418			Cadherin 4.		Q70LR6|Q70LR8|Q70LS0|Q70LS1|Q70LS2|Q70LS3|Q70LS4|Q70LS5|Q8WY34|Q9BZA9|Q9H4E1	Missense_Mutation	SNP	ENST00000333703.4	37	c.1220C>T	CCDS14776.1																																																																																				0.413	PCDH11Y-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084979.2	NM_032973		18	25	0	0	0	0.069288	0	18	25					T	4966872	C	T	4966872	3	4	178	1	0	0	0	0	1	0	0	0	11509	536	19	1	1295	1	PCDH11Y	24	4966872	Missense_Mutation	SNP	C	TCGA-G9-6494-01A-11D-1786-08		4966872	54406694	46	8398											
KIAA0494	9813	broad.mit.edu	37	chr1	47149017	47149017	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagataggtcttagttgggCagctttctcaactgggtctc	7	13	13	8	0	3	1	1	0	3	1	5	2	3	1	0	4	2	3	0	4	3	4			TCGA-G9-6496-01A-11D-1786-08	TCGA-G9-6496-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	259386a0-60a4-4990-a3c3-36b9bab40927	ecd9e666-76cf-4984-a6b7-01764f387579	g.chr1:47149017C>T	ENST00000371933.3	-	10	2243	c.1267G>A	c.(1267-1269)Gcc>Acc	p.A423T	EFCAB14-AS1_ENST00000418985.1_RNA|EFCAB14_ENST00000544071.1_Missense_Mutation_p.A359T|EFCAB14_ENST00000484461.1_5'Flank|EFCAB14-AS1_ENST00000442839.1_RNA	NM_014774.2	NP_055589.1	O75071	EFC14_HUMAN	EF-hand calcium binding domain 14	423							calcium ion binding (GO:0005509)	p.A423T(1)									CTTAGTTGGGCAGCTTTCTCA	0.388																																						ENST00000371933.3																			1	Substitution - Missense(1)	p.A423T(1)	prostate(1)								c.(1267-1269)Gcc>Acc		EF-hand calcium binding domain 14							118	121	120					1																	47149017		2203	4300	6503	SO:0001583	missense	9813							g.chr1:47149017C>T	AB007963	CCDS30706.1	1p33	2013-01-10	2012-11-29	2012-11-29	ENSG00000159658	ENSG00000159658		"EF-hand domain containing"	29051	protein-coding gene	gene with protein product			"KIAA0494"	KIAA0494		9455484	Standard	NM_014774		Approved		uc001cqk.4	O75071	OTTHUMG00000007992	ENST00000371933.3:c.1267G>A	1.37:g.47149017C>T	ENSP00000361001:p.Ala423Thr					EFCAB14-AS1_ENST00000442839.1_RNA|EFCAB14_ENST00000544071.1_Missense_Mutation_p.A359T|EFCAB14-AS1_ENST00000418985.1_RNA	p.A423T	NM_014774.2	NP_055589.1					10	2243	-								D3DQ23|Q5SXB8	Missense_Mutation	SNP	ENST00000371933.3	37	c.1267G>A	CCDS30706.1	.	.	.	.	.	.	.	.	.	.	C	10.09	1.254037	0.22965	.	.	ENSG00000159658	ENST00000544071;ENST00000371933	T;T	0.22945	2.31;1.93	4.83	-1.93	0.07594	.	1.133420	0.06335	N	0.706922	T	0.09905	0.0243	N	0.12182	0.205	0.09310	N	1	B;B;B	0.06786	0.001;0.001;0.0	B;B;B	0.08055	0.003;0.003;0.002	T	0.27262	-1.0079	10	0.05833	T	0.94	-1.0158	2.5236	0.04686	0.1163:0.3609:0.1141:0.4087	.	215;359;423	B7Z3D1;F5H7K3;O75071	.;.;K0494_HUMAN	T	359;423	ENSP00000442465:A359T;ENSP00000361001:A423T	ENSP00000361001:A423T	A	-	1	0	KIAA0494	46921604	0.000000	0.05858	0.198000	0.23420	0.969000	0.65631	-0.544000	0.06077	-0.447000	0.07138	0.655000	0.94253	GCC		0.388	EFCAB14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021931.1	NM_014774		33	60	0	0	0	0.013726	0	33	60					T	47149017	C	T	47149017	3	4	179	1	0	0	0	0	1	0	0	0	8179	710	25	3	228	3	KIAA0494	1	47149017	Missense_Mutation	SNP	C	TCGA-G9-6496-01A-11D-1786-08		47149017	202101604	1	8399											
LPPR5	163404	broad.mit.edu	37	chr1	99422183	99422183	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	accaagaaatcggacagttcGgcgcaccagcgggtttatat	12	8	11	10	4	0	1	0	0	0	1	2	2	0	2	2	3	1	3	2	3	4	4			TCGA-G9-6496-01A-11D-1786-08	TCGA-G9-6496-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	259386a0-60a4-4990-a3c3-36b9bab40927	ecd9e666-76cf-4984-a6b7-01764f387579	g.chr1:99422183G>A	ENST00000263177.4	-	2	573	c.352C>T	c.(352-354)Cga>Tga	p.R118*	LPPR5_ENST00000370188.3_Nonsense_Mutation_p.R118*	NM_001037317.1	NP_001032394.1	Q32ZL2	LPPR5_HUMAN		118						integral component of membrane (GO:0016021)	hydrolase activity (GO:0016787)	p.R118*(1)									CGGACAGTTCGGCGCACCAGC	0.358																																						ENST00000370188.3																			1	Substitution - Nonsense(1)	p.R118*(1)	prostate(1)								c.(352-354)Cga>Tga									63	67	66					1																	99422183		2202	4300	6502	SO:0001587	stop_gained	0					integral to membrane	hydrolase activity	g.chr1:99422183G>A																												ENST00000263177.4:c.352C>T	1.37:g.99422183G>A	ENSP00000263177:p.Arg118*					LPPR5_ENST00000263177.4_Nonsense_Mutation_p.R118*	p.R118*	NM_001010861.2	NP_001010861.1	Q32ZL2	LPPR5_HUMAN			2	712	-			118					A8MPX4|B7UCH3|Q32ZD0|Q3ZCU7	Nonsense_Mutation	SNP	ENST00000263177.4	37	c.352C>T	CCDS30778.1	.	.	.	.	.	.	.	.	.	.	G	37	6.375200	0.97515	.	.	ENSG00000117598	ENST00000370188;ENST00000263177	.	.	.	4.74	-0.68	0.11346	.	0.066699	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.0516	0.64739	0.0:0.0:0.2126:0.7874	.	.	.	.	X	118	.	ENSP00000263177:R118X	R	-	1	2	AL161744.1	99194771	0.994000	0.37717	0.970000	0.41538	0.996000	0.88848	0.449000	0.21744	0.102000	0.17638	0.591000	0.81541	CGA		0.358	LPPR5-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000393221.1			25	28	0	0	0	0.01892	0	25	28					A	99422183	G	A	99422183	4	1	179	1	0	0	0	0	0	1	0	0	8928	1124	39	2	633	2	LPPR5	1	99422183	Nonsense_Mutation	SNP	G	TCGA-G9-6496-01A-11D-1786-08	52273166	99422183	149828438	2	8400											
C1orf192	257177	broad.mit.edu	37	chr1	161334829	161334829	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctttggagttcatctggggAattgaggttggcagctgggg	6	12	18	5	0	2	1	1	1	1	0	2	3	2	3	0	7	1	5	0	7	1	4			TCGA-G9-6496-01A-11D-1786-08	TCGA-G9-6496-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	259386a0-60a4-4990-a3c3-36b9bab40927	ecd9e666-76cf-4984-a6b7-01764f387579	g.chr1:161334829A>G	ENST00000367974.1	-	5	465	c.460T>C	c.(460-462)Tcc>Ccc	p.S154P	RP11-122G18.5_ENST00000437833.2_lincRNA	NM_001013625.2	NP_001013647.2	Q5VTH2	CA192_HUMAN	chromosome 1 open reading frame 192	154								p.S154P(1)		endometrium(1)|large_intestine(3)|lung(5)|prostate(1)	10	all_cancers(52;4.64e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00376)			TCATCTGGGGAATTGAGGTTG	0.498																																						ENST00000367974.1																			1	Substitution - Missense(1)	p.S154P(1)	prostate(1)	endometrium(1)|large_intestine(3)|lung(5)|prostate(1)	10						c.(460-462)Tcc>Ccc		chromosome 1 open reading frame 192							275	257	263					1																	161334829		2203	4300	6503	SO:0001583	missense	257177							g.chr1:161334829A>G		CCDS30921.1	1q23.3	2014-02-21			ENSG00000188931	ENSG00000188931			32325	protein-coding gene	gene with protein product							Standard	NM_001013625		Approved	Flattop, Fltp	uc001gal.4	Q5VTH2	OTTHUMG00000034462	ENST00000367974.1:c.460T>C	1.37:g.161334829A>G	ENSP00000356951:p.Ser154Pro						p.S154P	NM_001013625.2	NP_001013647.2	Q5VTH2	CA192_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00376)		5	465	-	all_cancers(52;4.64e-17)|all_hematologic(112;0.093)		154						Missense_Mutation	SNP	ENST00000367974.1	37	c.460T>C	CCDS30921.1	.	.	.	.	.	.	.	.	.	.	A	9.988	1.229893	0.22542	.	.	ENSG00000188931	ENST00000367974	.	.	.	4.35	3.18	0.36537	.	0.427419	0.21040	N	0.081185	T	0.14056	0.0340	L	0.36672	1.1	0.25027	N	0.991297	P	0.47191	0.891	B	0.37943	0.261	T	0.05053	-1.0909	8	0.59425	D	0.04	-3.1987	6.8915	0.24232	0.7851:0.0:0.0:0.2149	.	154	Q5VTH2	CA192_HUMAN	P	154	.	ENSP00000356951:S154P	S	-	1	0	C1orf192	159601453	0.000000	0.05858	0.108000	0.21378	0.869000	0.49853	0.353000	0.20130	0.759000	0.33084	0.533000	0.62120	TCC		0.498	C1orf192-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083309.1	NM_001013625		35	70	0	0	0	0.013726	0	35	70					G	161334829	A	G	161334829	3	3	179	1	0	0	0	0	1	0	0	0	2024	246	9	4	77	4	C1orf192	1	161334829	Missense_Mutation	SNP	A	TCGA-G9-6496-01A-11D-1786-08	61912646	161334829	87915792	3	8401											
HSPA6	3310	broad.mit.edu	37	chr1	161494903	161494903	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatcaccgtgcccgcctattTcaatgactcgcagcgccagg	8	8	10	15	4	2	1	2	1	0	0	3	2	2	1	4	1	2	1	4	1	2	2			TCGA-G9-6496-01A-11D-1786-08	TCGA-G9-6496-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	259386a0-60a4-4990-a3c3-36b9bab40927	ecd9e666-76cf-4984-a6b7-01764f387579	g.chr1:161494903T>G	ENST00000309758.4	+	1	868	c.455T>G	c.(454-456)tTc>tGc	p.F152C	RP11-25K21.6_ENST00000537821.2_RNA	NM_002155.3	NP_002146.2	P17066	HSP76_HUMAN	heat shock 70kDa protein 6 (HSP70B')	152					ATP catabolic process (GO:0006200)|cellular response to heat (GO:0034605)|protein refolding (GO:0042026)|response to unfolded protein (GO:0006986)	blood microparticle (GO:0072562)|centriole (GO:0005814)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)|enzyme binding (GO:0019899)|heat shock protein binding (GO:0031072)|unfolded protein binding (GO:0051082)	p.F152C(2)		endometrium(3)|large_intestine(5)|lung(9)|prostate(2)|skin(2)	21	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)			CCCGCCTATTTCAATGACTCG	0.632																																						ENST00000309758.4																			2	Substitution - Missense(2)	p.F152C(2)	prostate(2)	endometrium(3)|large_intestine(5)|lung(9)|prostate(2)|skin(2)	21						c.(454-456)tTc>tGc		heat shock 70kDa protein 6 (HSP70B')							30	33	32					1																	161494903		2199	4299	6498	SO:0001583	missense	3310				response to unfolded protein		ATP binding	g.chr1:161494903T>G		CCDS1231.1	1q23.3	2011-09-02	2002-08-29		ENSG00000173110	ENSG00000173110		"Heat shock proteins / HSP70"	5239	protein-coding gene	gene with protein product		140555	"heat shock 70kD protein 6 (HSP70B')"			1346391	Standard	NM_002155		Approved		uc001gaq.3	P17066	OTTHUMG00000034461	ENST00000309758.4:c.455T>G	1.37:g.161494903T>G	ENSP00000310219:p.Phe152Cys						p.F152C	NM_002155.3	NP_002146.2	P17066	HSP76_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00376)		1	868	+	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		152					Q1HBA8|Q8IYK7|Q9BT95	Missense_Mutation	SNP	ENST00000309758.4	37	c.455T>G	CCDS1231.1	.	.	.	.	.	.	.	.	.	.	.	14.72	2.619757	0.46736	.	.	ENSG00000173110	ENST00000309758;ENST00000545155	T	0.02067	4.47	3.43	3.43	0.39272	.	0.000000	0.45606	U	0.000355	T	0.19967	0.0480	H	0.99970	5.12	0.50813	D	0.999899	D	0.89917	1.0	D	0.85130	0.997	T	0.44892	-0.9298	10	0.87932	D	0	-10.3555	9.8777	0.41213	0.0:0.0:0.0:1.0	.	152	P17066	HSP76_HUMAN	C	152;128	ENSP00000310219:F152C	ENSP00000310219:F152C	F	+	2	0	HSPA6	159761527	1.000000	0.71417	0.619000	0.29118	0.358000	0.29455	4.119000	0.57891	1.409000	0.46915	0.478000	0.44815	TTC		0.632	HSPA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083308.1	NM_002155		17	44	0	0	0	0.006122	0	17	44					G	161494903	T	G	161494903	3	3	179	1	0	0	0	0	1	0	0	0	7415	1783	62	5	457	5	HSPA6	1	161494903	Missense_Mutation	SNP	T	TCGA-G9-6496-01A-11D-1786-08	160074	161494903	87755718	4	8402											
NID1	4811	broad.mit.edu	37	chr1	236156998	236156998	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctccacctcgcggccgtcgCgatccacgcaccagcagtag	7	5	10	19	6	0	0	0	0	0	0	4	1	2	0	6	1	1	3	6	1	1	1			TCGA-G9-6496-01A-11D-1786-08	TCGA-G9-6496-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	259386a0-60a4-4990-a3c3-36b9bab40927	ecd9e666-76cf-4984-a6b7-01764f387579	g.chr1:236156998C>T	ENST00000264187.6	-	13	2784	c.2702G>A	c.(2701-2703)cGc>cAc	p.R901H	NID1_ENST00000366595.3_Missense_Mutation_p.R768H	NM_002508.2	NP_002499.2	P14543	NID1_HUMAN	nidogen 1	901	Thyroglobulin type-1. {ECO:0000255|PROSITE-ProRule:PRU00500}.				basement membrane organization (GO:0071711)|cell-matrix adhesion (GO:0007160)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glomerular basement membrane development (GO:0032836)|positive regulation of cell-substrate adhesion (GO:0010811)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|cell periphery (GO:0071944)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|laminin binding (GO:0043236)|proteoglycan binding (GO:0043394)	p.R901H(1)		breast(4)|endometrium(9)|kidney(1)|large_intestine(23)|lung(20)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(1)	66	Ovarian(103;0.0544)|Breast(184;0.23)	all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		Urokinase(DB00013)	GCGGCCGTCGCGATCCACGCA	0.697																																						ENST00000264187.6																			1	Substitution - Missense(1)	p.R901H(1)	prostate(1)	breast(4)|endometrium(9)|kidney(1)|large_intestine(23)|lung(20)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(1)	66						c.(2701-2703)cGc>cAc		nidogen 1	Becaplermin(DB00102)|Urokinase(DB00013)						20	20	20					1																	236156998		2200	4297	6497	SO:0001583	missense	4811				cell-matrix adhesion	basement membrane	calcium ion binding	g.chr1:236156998C>T	BC045606	CCDS1608.1	1q43	2011-05-08	2005-06-02	2005-06-02	ENSG00000116962	ENSG00000116962			7821	protein-coding gene	gene with protein product		131390	"nidogen (enactin)"	NID		2471408, 7557988	Standard	NM_002508		Approved	entactin	uc001hxo.3	P14543	OTTHUMG00000040071	ENST00000264187.6:c.2702G>A	1.37:g.236156998C>T	ENSP00000264187:p.Arg901His					NID1_ENST00000366595.3_Missense_Mutation_p.R768H	p.R901H	NM_002508.2	NP_002499.2	P14543	NID1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		13	2784	-	Ovarian(103;0.0544)|Breast(184;0.23)	all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229)	901			Thyroglobulin type-1.		Q14942|Q59FL2|Q5TAF2|Q5TAF3|Q86XD7	Missense_Mutation	SNP	ENST00000264187.6	37	c.2702G>A	CCDS1608.1	.	.	.	.	.	.	.	.	.	.	C	29.6	5.023124	0.93462	.	.	ENSG00000116962	ENST00000264187;ENST00000366595	T;T	0.64991	-0.13;-0.13	5.69	4.78	0.61160	Thyroglobulin type-1 (6);	0.102238	0.64402	D	0.000002	T	0.76779	0.4035	M	0.79693	2.465	0.28115	N	0.930829	D;D	0.71674	0.998;0.996	P;P	0.61722	0.819;0.893	T	0.73069	-0.4099	10	0.45353	T	0.12	.	14.0528	0.64749	0.0:0.9269:0.0:0.0731	.	768;901	P14543-2;P14543	.;NID1_HUMAN	H	901;768	ENSP00000264187:R901H;ENSP00000355554:R768H	ENSP00000264187:R901H	R	-	2	0	NID1	234223621	0.997000	0.39634	0.158000	0.22627	0.980000	0.70556	3.508000	0.53378	1.404000	0.46819	0.555000	0.69702	CGC		0.697	NID1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096647.2	NM_002508		5	12	0	0	0	0.001168	0	5	12					T	236156998	C	T	236156998	3	4	179	1	0	0	0	0	1	0	0	0	10414	768	27	1	1073	1	NID1	1	236156998	Missense_Mutation	SNP	C	TCGA-G9-6496-01A-11D-1786-08	74662095	236156998	13093623	5	8403											
TGOLN2	10618	broad.mit.edu	37	chr2	85553644	85553644	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacttaccttccgcttgttgTgatgagcgatatagaggaca	10	12	11	8	2	0	3	0	2	0	1	1	6	1	4	2	1	2	2	2	1	3	6			TCGA-G9-6496-01A-11D-1786-08	TCGA-G9-6496-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	259386a0-60a4-4990-a3c3-36b9bab40927	ecd9e666-76cf-4984-a6b7-01764f387579	g.chr2:85553644T>C	ENST00000409232.3	-	2	1272	c.1211A>G	c.(1210-1212)cAc>cGc	p.H404R	TGOLN2_ENST00000377386.3_Missense_Mutation_p.H404R|TGOLN2_ENST00000282120.2_Missense_Mutation_p.H248R|TGOLN2_ENST00000398263.2_Missense_Mutation_p.H346R|TGOLN2_ENST00000444342.2_Missense_Mutation_p.H404R|TGOLN2_ENST00000409015.1_Missense_Mutation_p.H404R			O43493	TGON2_HUMAN	trans-golgi network protein 2	404						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)|transport vesicle (GO:0030133)		p.H404R(1)									CCGCTTGTTGTGATGAGCGAT	0.562																																						ENST00000377386.3																			1	Substitution - Missense(1)	p.H404R(1)	prostate(1)								c.(1210-1212)cAc>cGc		trans-golgi network protein 2							63	63	63					2																	85553644		1933	4142	6075	SO:0001583	missense	10618					integral to membrane|nucleus|plasma membrane|trans-Golgi network|transport vesicle	protein binding	g.chr2:85553644T>C	AF027515	CCDS46351.1, CCDS56126.1, CCDS56127.1	2p11.2	2012-06-25			ENSG00000152291	ENSG00000152291			15450	protein-coding gene	gene with protein product	"trans-Golgi network protein (46, 48, 51kD isoforms)"	603062				9422759, 21994457	Standard	NM_001206840		Approved	TGN51, TGN46, TGN48, TGN38, TTGN2	uc021vjw.1	O43493	OTTHUMG00000153017	ENST00000409232.3:c.1211A>G	2.37:g.85553644T>C	ENSP00000386443:p.His404Arg					TGOLN2_ENST00000444342.2_Missense_Mutation_p.H404R|TGOLN2_ENST00000409232.3_Missense_Mutation_p.H404R|TGOLN2_ENST00000398263.2_Missense_Mutation_p.H346R|TGOLN2_ENST00000409015.1_Missense_Mutation_p.H404R|TGOLN2_ENST00000282120.2_Missense_Mutation_p.H248R	p.H404R			O43493	TGON2_HUMAN			2	1673	-			404					B2R686|B8ZZ88|D6W5K3|F8WBK2|O15282|O43492|O43499|O43500|O43501|Q53G68|Q53GV2|Q6MZV1|Q6ZTM7|Q8N6T8|Q92760|Q96QL2	Missense_Mutation	SNP	ENST00000409232.3	37	c.1211A>G	CCDS56126.1	.	.	.	.	.	.	.	.	.	.	T	22.0	4.226120	0.79576	.	.	ENSG00000152291	ENST00000377386;ENST00000282120;ENST00000398263;ENST00000409232;ENST00000409015;ENST00000444342	T;T;T;T;T;T	0.44881	1.05;1.47;0.91;1.14;1.02;1.05	4.68	4.68	0.58851	.	.	.	.	.	T	0.59074	0.2167	L	0.59436	1.845	0.44302	D	0.997171	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.998;0.998;0.999	T	0.62581	-0.6824	9	0.87932	D	0	-28.7016	12.1345	0.53964	0.0:0.0:0.0:1.0	.	404;404;346;404	O43493;O43493-5;O43493-4;O43493-2	TGON2_HUMAN;.;.;.	R	404;248;346;404;404;404	ENSP00000366603:H404R;ENSP00000282120:H248R;ENSP00000381312:H346R;ENSP00000386443:H404R;ENSP00000387035:H404R;ENSP00000391190:H404R	ENSP00000282120:H248R	H	-	2	0	TGOLN2	85407155	1.000000	0.71417	1.000000	0.80357	0.672000	0.39443	6.993000	0.76245	1.967000	0.57214	0.533000	0.62120	CAC		0.562	TGOLN2-006	NOVEL	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000329045.2	NM_006464		26	41	0	0	0	0.005443	0	26	41					C	85553644	T	C	85553644	3	2	179	1	0	0	0	0	1	0	0	0	15833	1696	59	4	114	4	TGOLN2	2	85553644	Missense_Mutation	SNP	T	TCGA-G9-6496-01A-11D-1786-08		85553644	157645729	6	8404											
SCN3A	6328	broad.mit.edu	37	chr2	166020180	166020180	+	Intron	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agaactctgaatgttctcaaCgctgagacattgcccaggtc	11	10	9	11	1	2	3	1	2	2	2	4	4	2	3	1	1	3	2	1	1	3	2	rs575814709	byFrequency	TCGA-G9-6496-01A-11D-1786-08	TCGA-G9-6496-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	259386a0-60a4-4990-a3c3-36b9bab40927	ecd9e666-76cf-4984-a6b7-01764f387579	g.chr2:166020180C>T	ENST00000360093.3	-	7	1186				SCN3A_ENST00000283254.7_Silent_p.A214A|SCN3A_ENST00000409101.3_Intron	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit						membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)	p.A214A(1)		NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lacosamide(DB06218)|Valproic Acid(DB00313)|Zonisamide(DB00909)	ATGTTCTCAACGCTGAGACAT	0.408													c|||	2	0.000399361	0	0	5008	,	,		18881	0		0	False		,,,				2504	0.002					ENST00000283254.7																			1	Substitution - coding silent(1)	p.A214A(1)	prostate(1)	NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120						c.(640-642)gcG>gcA		sodium channel, voltage-gated, type III, alpha subunit	Lamotrigine(DB00555)						99	93	95					2																	166020180		2203	4300	6503	SO:0001627	intron_variant	6328					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:166020180C>T	AF035685	CCDS33312.1, CCDS46440.1	2q24	2012-02-26	2007-01-23		ENSG00000153253	ENSG00000153253		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10590	protein-coding gene	gene with protein product		182391	"sodium channel, voltage-gated, type III, alpha polypeptide"			9589372, 16382098	Standard	NM_001081676		Approved	Nav1.3	uc002ucx.3	Q9NY46	OTTHUMG00000044171	ENST00000360093.3:c.694+131G>A	2.37:g.166020180C>T						SCN3A_ENST00000409101.3_Intron|SCN3A_ENST00000360093.3_Intron	p.A214A	NM_001081676.1|NM_006922.3	NP_001075145.1|NP_008853.3	Q9NY46	SCN3A_HUMAN			7	1109	-			214					Q16142|Q53SX0|Q9BZB3|Q9C006|Q9NYK2|Q9P2J1|Q9UPD1|Q9Y6P4	Silent	SNP	ENST00000360093.3	37	c.642G>A																																																																																					0.408	SCN3A-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_006922		26	32	0	0	0	0.007291	0	26	32					T	166020180	C	T	166020180	1	4	179	0	1	0	0	0	0	0	0	0	13918	523	19	1		1	SCN3A	2	166020180	Intron	SNP	C	TCGA-G9-6496-01A-11D-1786-08	80466536	166020180	77179193	7	8405											
CPS1	1373	broad.mit.edu	37	chr2	211541794	211541794	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	aacaacaacactaaatttgtCcatgataattatgtgattcg	16	13	5	7	1	0	2	0	2	0	0	2	2	1	2	1	0	3	0	1	0	7	5			TCGA-G9-6496-01A-11D-1786-08	TCGA-G9-6496-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	259386a0-60a4-4990-a3c3-36b9bab40927	ecd9e666-76cf-4984-a6b7-01764f387579	g.chr2:211541794C>T	ENST00000233072.5	+	37	4534	c.4338C>T	c.(4336-4338)gtC>gtT	p.V1446V	CPS1_ENST00000430249.2_Silent_p.V1452V|CPS1_ENST00000451903.2_Silent_p.V995V	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN	carbamoyl-phosphate synthase 1, mitochondrial	1446					anion homeostasis (GO:0055081)|carbamoyl phosphate biosynthetic process (GO:0070409)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to cAMP (GO:0071320)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to glucagon stimulus (GO:0071377)|cellular response to oleic acid (GO:0071400)|citrulline biosynthetic process (GO:0019240)|glutamine catabolic process (GO:0006543)|glycogen catabolic process (GO:0005980)|hepatocyte differentiation (GO:0070365)|homocysteine metabolic process (GO:0050667)|midgut development (GO:0007494)|nitric oxide metabolic process (GO:0046209)|positive regulation of vasodilation (GO:0045909)|response to amine (GO:0014075)|response to amino acid (GO:0043200)|response to dexamethasone (GO:0071548)|response to drug (GO:0042493)|response to food (GO:0032094)|response to growth hormone (GO:0060416)|response to lipopolysaccharide (GO:0032496)|response to starvation (GO:0042594)|response to toxic substance (GO:0009636)|response to zinc ion (GO:0010043)|small molecule metabolic process (GO:0044281)|triglyceride catabolic process (GO:0019433)|urea cycle (GO:0000050)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|carbamoyl-phosphate synthase (ammonia) activity (GO:0004087)|endopeptidase activity (GO:0004175)|glutamate binding (GO:0016595)|modified amino acid binding (GO:0072341)|phospholipid binding (GO:0005543)	p.V1446V(1)		breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)	Carglumic Acid(DB06775)	CTAAATTTGTCCATGATAATT	0.378																																						ENST00000233072.5																			1	Substitution - coding silent(1)	p.V1446V(1)	prostate(1)	breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142						c.(4336-4338)gtC>gtT		carbamoyl-phosphate synthase 1, mitochondrial							184	179	181					2																	211541794		2203	4300	6503	SO:0001819	synonymous_variant	1373				carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity	g.chr2:211541794C>T	AF154830	CCDS2393.1, CCDS46505.1, CCDS46506.1	2p	2014-09-17	2010-05-11		ENSG00000021826	ENSG00000021826	6.3.4.16		2323	protein-coding gene	gene with protein product		608307	"carbamoyl-phosphate synthetase 1, mitochondrial"				Standard	NM_001122633		Approved		uc002vee.4	P31327	OTTHUMG00000132994	ENST00000233072.5:c.4338C>T	2.37:g.211541794C>T						CPS1_ENST00000430249.2_Silent_p.V1452V|CPS1_ENST00000451903.2_Silent_p.V995V	p.V1446V	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN		Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)	37	4534	+			1446					B7Z818|J3KQL0|O43774|Q53TL5|Q59HF8|Q7Z5I5	Silent	SNP	ENST00000233072.5	37	c.4338C>T	CCDS2393.1																																																																																				0.378	CPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256569.5			48	89	0	0	0	0.01441	0	48	89					T	211541794	C	T	211541794	2	4	179	1	0	0	0	0	0	0	0	1	3823	842	30	3		3	CPS1	2	211541794	Silent	SNP	C	TCGA-G9-6496-01A-11D-1786-08	45521614	211541794	31657579	8	8406											
SPAG16	79582	broad.mit.edu	37	chr2	214794778	214794778	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgacctttgaaggacacagcCgcgcagtgtggtcctgcaca	9	8	12	12	2	0	2	0	2	0	0	1	3	1	3	3	2	2	2	3	2	1	1	rs142357329	byFrequency	TCGA-G9-6496-01A-11D-1786-08	TCGA-G9-6496-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	259386a0-60a4-4990-a3c3-36b9bab40927	ecd9e666-76cf-4984-a6b7-01764f387579	g.chr2:214794778C>T	ENST00000331683.5	+	12	1404	c.1309C>T	c.(1309-1311)Cgc>Tgc	p.R437C	SPAG16_ENST00000374309.3_Missense_Mutation_p.R343C	NM_024532.4	NP_078808.3	Q8N0X2	SPG16_HUMAN	sperm associated antigen 16	437					cilium assembly (GO:0042384)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|microtubule cytoskeleton (GO:0015630)|motile cilium (GO:0031514)|nucleus (GO:0005634)		p.R437C(2)		endometrium(4)|kidney(1)|large_intestine(15)|lung(27)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	56		Renal(323;0.00461)		UCEC - Uterine corpus endometrioid carcinoma (47;0.0525)|Epithelial(149;7.07e-07)|all cancers(144;7.96e-05)|Lung(261;0.00255)|LUSC - Lung squamous cell carcinoma(224;0.00599)		AGGACACAGCCGCGCAGTGTG	0.438																																						ENST00000331683.5																			2	Substitution - Missense(2)	p.R437C(2)	prostate(2)	endometrium(4)|kidney(1)|large_intestine(15)|lung(27)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	56						c.(1309-1311)Cgc>Tgc		sperm associated antigen 16		C	CYS/ARG	2,4404	4.2+/-10.8	0,2,2201	113	112	113		1309	5.5	0.8	2	dbSNP_134	113	0,8600		0,0,4300	no	missense	SPAG16	NM_024532.3	180	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	possibly-damaging	437/632	214794778	2,13004	2203	4300	6503	SO:0001583	missense	79582				cilium assembly	cilium axoneme|flagellar axoneme		g.chr2:214794778C>T	AF310672	CCDS2396.1, CCDS46508.1	2q34	2013-05-21			ENSG00000144451	ENSG00000144451		"WD repeat domain containing"	23225	protein-coding gene	gene with protein product		612173				12391165, 11867345	Standard	NM_024532		Approved	PF20, FLJ22724, DKFZp666P1710, WDR29	uc002veq.4	Q8N0X2	OTTHUMG00000133015	ENST00000331683.5:c.1309C>T	2.37:g.214794778C>T	ENSP00000332592:p.Arg437Cys					SPAG16_ENST00000374309.3_Missense_Mutation_p.R343C	p.R437C	NM_024532.4	NP_078808.3	Q8N0X2	SPG16_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (47;0.0525)|Epithelial(149;7.07e-07)|all cancers(144;7.96e-05)|Lung(261;0.00255)|LUSC - Lung squamous cell carcinoma(224;0.00599)	12	1404	+		Renal(323;0.00461)	437					Q498B7|Q658W1|Q68DB3|Q6I9Z6|Q8N9C7|Q9H601	Missense_Mutation	SNP	ENST00000331683.5	37	c.1309C>T	CCDS2396.1	.	.	.	.	.	.	.	.	.	.	C	15.74	2.923469	0.52653	4.54E-4	0.0	ENSG00000144451	ENST00000331683;ENST00000374309	D;D	0.81499	-1.5;-1.5	5.48	5.48	0.80851	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.332871	0.28376	N	0.015577	D	0.82674	0.5088	L	0.43923	1.385	0.40789	D	0.983242	D;D;D;D	0.58620	0.983;0.979;0.967;0.983	B;B;P;B	0.53062	0.417;0.409;0.717;0.417	D	0.83392	0.0018	10	0.46703	T	0.11	.	17.8902	0.88870	0.0:1.0:0.0:0.0	.	343;288;377;437	B4DYB5;Q8N0X2-2;Q4G1A2;Q8N0X2	.;.;.;SPG16_HUMAN	C	437;343	ENSP00000332592:R437C;ENSP00000363428:R343C	ENSP00000332592:R437C	R	+	1	0	SPAG16	214503023	0.565000	0.26610	0.839000	0.33178	0.039000	0.13416	3.522000	0.53480	2.550000	0.86006	0.655000	0.94253	CGC		0.438	SPAG16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256601.2	NM_024532		49	50	0	0	0	0.01441	0	49	50					T	214794778	C	T	214794778	3	4	179	1	0	0	0	0	1	0	0	0	14978	652	23	2	1371	2	SPAG16	2	214794778	Missense_Mutation	SNP	C	TCGA-G9-6496-01A-11D-1786-08	3252984	214794778	28404595	9	8407											
FBLN2	2199	broad.mit.edu	37	chr3	13663379	13663379	+	Intron	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accacacagtgctctgtgccGatggctatatcctcaatgcg	9	10	9	13	2	2	0	1	0	1	0	3	1	3	0	3	1	3	2	3	1	3	2			TCGA-G9-6496-01A-11D-1786-08	TCGA-G9-6496-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	259386a0-60a4-4990-a3c3-36b9bab40927	ecd9e666-76cf-4984-a6b7-01764f387579	g.chr3:13663379G>T	ENST00000295760.7	+	8	2224				FBLN2_ENST00000404922.3_Missense_Mutation_p.D754Y|FBLN2_ENST00000492059.1_Missense_Mutation_p.D754Y|FBLN2_ENST00000535798.1_Intron	NM_001998.2	NP_001989.2	P98095	FBLN2_HUMAN	fibulin 2						extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	calcium ion binding (GO:0005509)|extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)	p.D754Y(1)|p.D173Y(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(3)|prostate(3)|urinary_tract(1)	24			UCEC - Uterine corpus endometrioid carcinoma (1;0.00416)			GCTCTGTGCCGATGGCTATAT	0.612																																						ENST00000404922.3																			2	Substitution - Missense(2)	p.D754Y(1)|p.D173Y(1)	prostate(2)	haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(3)|prostate(3)|urinary_tract(1)	24						c.(2260-2262)Gat>Tat		fibulin 2							81	87	85					3																	13663379		2088	4213	6301	SO:0001627	intron_variant	2199					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent	g.chr3:13663379G>T	X82494	CCDS46761.1, CCDS46762.1	3p25-p24	2010-06-15			ENSG00000163520	ENSG00000163520		"Fibulins"	3601	protein-coding gene	gene with protein product		135821				7806230	Standard	NM_001165035		Approved		uc011ava.2	P98095	OTTHUMG00000155437	ENST00000295760.7:c.2155+2048G>T	3.37:g.13663379G>T						FBLN2_ENST00000492059.1_Missense_Mutation_p.D754Y|FBLN2_ENST00000535798.1_Intron|FBLN2_ENST00000295760.7_Intron	p.D754Y	NM_001004019.1	NP_001004019.1	P98095	FBLN2_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (1;0.00416)		9	2379	+			753			EGF-like 3; calcium-binding.		B7Z9C5|Q8IUI0|Q8IUI1	Missense_Mutation	SNP	ENST00000295760.7	37	c.2260G>T	CCDS46762.1	.	.	.	.	.	.	.	.	.	.	G	15.27	2.783192	0.49891	.	.	ENSG00000163520	ENST00000404922;ENST00000492059	D;D	0.92595	-3.07;-3.07	5.27	2.45	0.29901	.	0.865178	0.09766	U	0.758667	D	0.89157	0.6635	L	0.33792	1.035	0.80722	D	1	P	0.46952	0.887	P	0.46479	0.518	T	0.82238	-0.0556	10	0.66056	D	0.02	.	9.1202	0.36782	0.0768:0.3057:0.6175:0.0	.	754	P98095-2	.	Y	754	ENSP00000384169:D754Y;ENSP00000420042:D754Y	ENSP00000384169:D754Y	D	+	1	0	FBLN2	13638380	0.989000	0.36119	0.808000	0.32385	0.747000	0.42532	2.066000	0.41452	0.190000	0.20209	0.579000	0.79373	GAT		0.612	FBLN2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000340083.3	NM_001004019		11	27	1	0	3.07112e-06	0.010729	3.43549e-06	11	27					T	13663379	G	T	13663379	1	4	179	0	1	0	0	0	0	0	0	0	5699	1058	37	5		5	FBLN2	3	13663379	Intron	SNP	G	TCGA-G9-6496-01A-11D-1786-08		13663379	184359051	10	8408											
PRSS50	29122	broad.mit.edu	37	chr3	46759103	46759103	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagcagtggacagcgcccccGgggcttcccctgcgccccag	5	4	13	19	3	0	0	0	0	0	0	1	1	1	1	6	3	3	2	6	3	0	1			TCGA-G9-6496-01A-11D-1786-08	TCGA-G9-6496-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	259386a0-60a4-4990-a3c3-36b9bab40927	ecd9e666-76cf-4984-a6b7-01764f387579	g.chr3:46759103G>A	ENST00000460241.1	-	7	1801	c.131C>T	c.(130-132)cCg>cTg	p.P44L	PRSS50_ENST00000315170.7_Missense_Mutation_p.P44L			Q9UI38	TSP50_HUMAN	protease, serine, 50	44					proteolysis (GO:0006508)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)	serine-type endopeptidase activity (GO:0004252)|threonine-type endopeptidase activity (GO:0004298)	p.P44L(1)		endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	11						CAGCGCCCCCGGGGCTTCCCC	0.706																																					Pancreas(41;915 1239 11561 17469)	ENST00000460241.1																			1	Substitution - Missense(1)	p.P44L(1)	prostate(1)	endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	11						c.(130-132)cCg>cTg		protease, serine, 50							36	40	39					3																	46759103		2202	4298	6500	SO:0001583	missense	29122				proteolysis	endoplasmic reticulum	serine-type endopeptidase activity|threonine-type endopeptidase activity	g.chr3:46759103G>A	AF100707	CCDS2745.1	3p21.31	2011-05-24			ENSG00000206549	ENSG00000206549		"Serine peptidases / Serine peptidases"	17910	protein-coding gene	gene with protein product	"cancer/testis antigen 20", "testes specific protease 50"	607950				10397268	Standard	NM_013270		Approved	TSP50, CT20	uc003cqe.1	Q9UI38	OTTHUMG00000164067	ENST00000460241.1:c.131C>T	3.37:g.46759103G>A	ENSP00000418875:p.Pro44Leu					PRSS50_ENST00000315170.7_Missense_Mutation_p.P44L	p.P44L			Q9UI38	TSP50_HUMAN			7	1801	-			44						Missense_Mutation	SNP	ENST00000460241.1	37	c.131C>T	CCDS2745.1	.	.	.	.	.	.	.	.	.	.	G	4.088	0.014302	0.07959	.	.	ENSG00000206549	ENST00000315170;ENST00000460241	D;D	0.89552	-2.53;-2.53	3.29	-1.01	0.10169	.	1.022730	0.07856	N	0.965422	T	0.76884	0.4050	N	0.19112	0.55	0.09310	N	1	B	0.13145	0.007	B	0.04013	0.001	T	0.58864	-0.7561	9	.	.	.	.	4.5313	0.12006	0.2662:0.4115:0.3224:0.0	.	44	Q9UI38	TSP50_HUMAN	L	44	ENSP00000326598:P44L;ENSP00000418875:P44L	.	P	-	2	0	PRSS50	46734107	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.278000	0.08490	-0.241000	0.09681	-1.240000	0.01540	CCG		0.706	PRSS50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354544.1			12	17	0	0	0	0.010729	0	12	17					A	46759103	G	A	46759103	3	1	179	1	0	0	0	0	1	0	0	0	12631	1116	39	2	1046	2	PRSS50	3	46759103	Missense_Mutation	SNP	G	TCGA-G9-6496-01A-11D-1786-08	33095724	46759103	151263327	11	8409											
MYLK	4638	broad.mit.edu	37	chr3	123451902	123451902	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gccttcctgtctcctcacggGggtgccttccaggaaccagg	5	9	12	15	1	2	0	1	0	1	0	5	1	4	1	6	4	2	0	6	4	1	2			TCGA-G9-6496-01A-11D-1786-08	TCGA-G9-6496-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	259386a0-60a4-4990-a3c3-36b9bab40927	ecd9e666-76cf-4984-a6b7-01764f387579	g.chr3:123451902G>C	ENST00000475616.1	-	8	1356	c.1357C>G	c.(1357-1359)Ccc>Gcc	p.P453A	MYLK_ENST00000346322.5_Intron|MYLK_ENST00000360304.3_Missense_Mutation_p.P453A|MYLK_ENST00000359169.1_Missense_Mutation_p.P453A|MYLK_ENST00000360772.3_Missense_Mutation_p.P453A			Q15746	MYLK_HUMAN	myosin light chain kinase	453	Ig-like C2-type 3.				actin filament organization (GO:0007015)|aorta smooth muscle tissue morphogenesis (GO:0060414)|bleb assembly (GO:0032060)|cellular hypotonic response (GO:0071476)|muscle contraction (GO:0006936)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cell migration (GO:0030335)|positive regulation of wound healing (GO:0090303)|protein phosphorylation (GO:0006468)|smooth muscle contraction (GO:0006939)|tonic smooth muscle contraction (GO:0014820)	cell-cell junction (GO:0005911)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|metal ion binding (GO:0046872)|myosin light chain kinase activity (GO:0004687)	p.P453A(2)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		CTCCTCACGGGGGTGCCTTCC	0.572																																						ENST00000360772.3																			2	Substitution - Missense(2)	p.P453A(2)	prostate(2)	NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113						c.(1357-1359)Ccc>Gcc		myosin light chain kinase							56	49	51					3																	123451902		2203	4300	6503	SO:0001583	missense	4638				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity	g.chr3:123451902G>C	X85337	CCDS3023.1, CCDS43141.1, CCDS46896.1, CCDS46897.1, CCDS58849.1	3q21	2013-02-11	2008-01-23		ENSG00000065534	ENSG00000065534	2.7.11.18	"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	7590	protein-coding gene	gene with protein product	"smooth muscle myosin light chain kinase"	600922	"myosin, light polypeptide kinase"			8575746	Standard	NM_053026		Approved	MLCK, smMLCK, MYLK1, MLCK1	uc003ego.3	Q15746	OTTHUMG00000141304	ENST00000475616.1:c.1357C>G	3.37:g.123451902G>C	ENSP00000418335:p.Pro453Ala					MYLK_ENST00000475616.1_Missense_Mutation_p.P453A|MYLK_ENST00000360304.3_Missense_Mutation_p.P453A|MYLK_ENST00000359169.1_Missense_Mutation_p.P453A|MYLK_ENST00000346322.5_Intron	p.P453A			Q15746	MYLK_HUMAN		GBM - Glioblastoma multiforme(114;0.0736)	12	1735	-		Lung NSC(201;0.0496)	453			Ig-like C2-type 3.		B4DUE3|D3DN97|O95796|O95797|O95798|O95799|Q14844|Q16794|Q17S15|Q3ZCP9|Q5MY99|Q5MYA0|Q6P2N0|Q7Z4J0|Q9C0L5|Q9UBG5|Q9UBY6|Q9UIT9	Missense_Mutation	SNP	ENST00000475616.1	37	c.1357C>G	CCDS46896.1	.	.	.	.	.	.	.	.	.	.	G	11.28	1.592720	0.28357	.	.	ENSG00000065534	ENST00000360772;ENST00000360304;ENST00000359169;ENST00000475616	T;T;T;T	0.67523	-0.27;-0.27;-0.27;-0.27	5.42	4.53	0.55603	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.66396	0.2785	L	0.41906	1.305	0.31387	N	0.67826	P;P;P	0.52170	0.94;0.94;0.951	P;P;P	0.56216	0.71;0.69;0.794	T	0.61729	-0.7003	9	0.22706	T	0.39	.	9.2716	0.37675	0.0794:0.1458:0.7748:0.0	.	453;453;453	Q15746-6;Q15746-3;Q15746	.;.;MYLK_HUMAN	A	453	ENSP00000354004:P453A;ENSP00000353452:P453A;ENSP00000352088:P453A;ENSP00000418335:P453A	ENSP00000352088:P453A	P	-	1	0	MYLK	124934592	0.990000	0.36364	0.287000	0.24848	0.261000	0.26267	2.444000	0.44890	2.822000	0.97130	0.655000	0.94253	CCC		0.572	MYLK-004	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356464.1	NM_053025		6	26	0	0	0	0.001984	0	6	26					C	123451902	G	C	123451902	3	2	179	1	0	0	0	0	1	0	0	0	10056	1232	43	5	4483	5	MYLK	3	123451902	Missense_Mutation	SNP	G	TCGA-G9-6496-01A-11D-1786-08	76692799	123451902	74570528	12	8410											
IFT122	55764	broad.mit.edu	37	chr3	129188218	129188218	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacatcctggctgtggctgaCtggggacagaaagtttcctt	8	11	13	9	0	0	2	0	1	0	1	2	4	2	3	2	4	0	3	2	4	1	2			TCGA-G9-6496-01A-11D-1786-08	TCGA-G9-6496-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	259386a0-60a4-4990-a3c3-36b9bab40927	ecd9e666-76cf-4984-a6b7-01764f387579	g.chr3:129188218C>G	ENST00000348417.2	+	9	851	c.774C>G	c.(772-774)gaC>gaG	p.D258E	IFT122_ENST00000349441.2_Missense_Mutation_p.D147E|IFT122_ENST00000507564.1_Missense_Mutation_p.D250E|IFT122_ENST00000440957.2_Missense_Mutation_p.D49E|IFT122_ENST00000431818.2_Missense_Mutation_p.D108E|IFT122_ENST00000504021.1_Missense_Mutation_p.D152E|IFT122_ENST00000296266.3_Missense_Mutation_p.D309E|IFT122_ENST00000347300.2_Missense_Mutation_p.D199E	NM_052989.1	NP_443715.1	Q9HBG6	IF122_HUMAN	intraflagellar transport 122	258					camera-type eye morphogenesis (GO:0048593)|ciliary receptor clustering involved in smoothened signaling pathway (GO:0060830)|cilium morphogenesis (GO:0060271)|embryonic body morphogenesis (GO:0010172)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|embryonic heart tube development (GO:0035050)|embryonic heart tube left/right pattern formation (GO:0060971)|establishment of protein localization to organelle (GO:0072594)|intraciliary anterograde transport (GO:0035720)|intraciliary retrograde transport (GO:0035721)|limb development (GO:0060173)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of smoothened signaling pathway involved in ventral spinal cord patterning (GO:0021914)|neural tube closure (GO:0001843)|protein localization to cilium (GO:0061512)|signal transduction downstream of smoothened (GO:0007227)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)	ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|intraciliary transport particle A (GO:0030991)|membrane (GO:0016020)|photoreceptor connecting cilium (GO:0032391)|primary cilium (GO:0072372)		p.D309E(1)		breast(3)|cervix(1)|endometrium(9)|large_intestine(10)|lung(21)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	52						CTGTGGCTGACTGGGGACAGA	0.443																																						ENST00000296266.3																			1	Substitution - Missense(1)	p.D309E(1)	prostate(1)	breast(3)|cervix(1)|endometrium(9)|large_intestine(10)|lung(21)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	52						c.(925-927)gaC>gaG		intraflagellar transport 122 homolog (Chlamydomonas)							140	141	141					3																	129188218		2203	4300	6503	SO:0001583	missense	55764				camera-type eye morphogenesis|cilium morphogenesis|embryonic body morphogenesis|embryonic heart tube development|limb development|neural tube closure	microtubule basal body|photoreceptor connecting cilium		g.chr3:129188218C>G	AF244930	CCDS3059.1, CCDS3060.1, CCDS3061.1, CCDS3062.1, CCDS63770.1, CCDS63772.1, CCDS63773.1	3q21	2014-07-03	2014-07-03	2005-11-02	ENSG00000163913	ENSG00000163913		"WD repeat domain containing", "Intraflagellar transport homologs"	13556	protein-coding gene	gene with protein product		606045	"WD repeat domain 10", "intraflagellar transport 122 homolog (Chlamydomonas)"	WDR10		11242542	Standard	NM_052985		Approved	WDR140, WDR10p, SPG	uc003emm.3	Q9HBG6	OTTHUMG00000159516	ENST00000348417.2:c.774C>G	3.37:g.129188218C>G	ENSP00000324005:p.Asp258Glu					IFT122_ENST00000440957.2_Missense_Mutation_p.D49E|IFT122_ENST00000431818.2_Missense_Mutation_p.D108E|IFT122_ENST00000349441.2_Missense_Mutation_p.D147E|IFT122_ENST00000348417.2_Missense_Mutation_p.D258E|IFT122_ENST00000347300.2_Missense_Mutation_p.D199E|IFT122_ENST00000507564.1_Missense_Mutation_p.D250E|IFT122_ENST00000504021.1_Missense_Mutation_p.D152E	p.D309E	NM_052985.2	NP_443711.2	Q9HBG6	IF122_HUMAN			10	1119	+			258					B3KW53|B4DEY9|B4DPW7|E7EQF4|E9PDG2|E9PDX2|G3XAB1|H7C3C0|Q53G36|Q8TC06|Q9BTB9|Q9BTY4|Q9HAT9|Q9HBG5|Q9NV68|Q9UF80	Missense_Mutation	SNP	ENST00000348417.2	37	c.927C>G	CCDS3061.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.1|20.1	3.940626|3.940626	0.73557|0.73557	.|.	.|.	ENSG00000163913|ENSG00000163913	ENST00000347300;ENST00000296266;ENST00000507564;ENST00000454840;ENST00000431818;ENST00000504021;ENST00000349441;ENST00000348417;ENST00000446384;ENST00000440957;ENST00000511498|ENST00000512157;ENST00000515783	T;T;T;D;T;T;T;D;T|.	0.90324|.	-0.25;1.52;1.52;-2.65;1.51;1.51;-0.25;-2.65;2.25|.	5.88|5.88	2.16|2.16	0.27623|0.27623	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.51041|0.51041	0.1651|0.1651	L|L	0.35644|0.35644	1.08|1.08	0.58432|0.58432	D|D	0.999999|0.999999	D;D;P;P;P;P;D;D|.	0.67145|.	0.996;0.994;0.928;0.884;0.823;0.889;0.994;0.996|.	D;D;P;P;P;P;D;D|.	0.77557|.	0.99;0.97;0.677;0.465;0.566;0.749;0.978;0.99|.	T|T	0.29971|0.29971	-0.9994|-0.9994	10|5	0.45353|.	T|.	0.12|.	-35.1221|-35.1221	9.8127|9.8127	0.40833|0.40833	0.0:0.669:0.0:0.331|0.0:0.669:0.0:0.331	.|.	49;250;152;98;147;199;258;309|.	E9PDG2;E7EQF4;B4DEY9;B4DPW7;Q9BTY4;Q9HBG6-3;Q9HBG6;G3XAB1|.	.;.;.;.;.;.;IF122_HUMAN;.|.	E|V	199;309;250;199;108;152;147;258;98;49;49|137;85	ENSP00000323973:D199E;ENSP00000296266:D309E;ENSP00000425536:D250E;ENSP00000410946:D108E;ENSP00000422179:D152E;ENSP00000324165:D147E;ENSP00000324005:D258E;ENSP00000401569:D49E;ENSP00000422237:D49E|.	ENSP00000296266:D309E|.	D|L	+|+	3|1	2|2	IFT122|IFT122	130670908|130670908	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.998000|0.998000	0.95712|0.95712	0.912000|0.912000	0.28597|0.28597	0.117000|0.117000	0.18138|0.18138	0.655000|0.655000	0.94253|0.94253	GAC|CTG		0.443	IFT122-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000355852.1	NM_018262		63	79	0	0	0	0.01441	0	63	79					G	129188218	C	G	129188218	3	3	179	1	0	0	0	0	1	0	0	0	7555	564	20	5	965	5	IFT122	3	129188218	Missense_Mutation	SNP	C	TCGA-G9-6496-01A-11D-1786-08	5736316	129188218	68834212	13	8411											
DGKQ	1609	broad.mit.edu	37	chr4	956320	956320	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatgagcacggcgtcggccTcgtccacagacagcagtacg	9	5	12	15	5	0	2	0	1	0	1	3	2	1	2	3	2	3	3	3	2	1	1			TCGA-G9-6496-01A-11D-1786-08	TCGA-G9-6496-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	259386a0-60a4-4990-a3c3-36b9bab40927	ecd9e666-76cf-4984-a6b7-01764f387579	g.chr4:956320T>C	ENST00000273814.3	-	18	2190	c.2117A>G	c.(2116-2118)gAg>gGg	p.E706G	DGKQ_ENST00000502309.1_5'Flank	NM_001347.3	NP_001338.2	P52824	DGKQ_HUMAN	diacylglycerol kinase, theta 110kDa	706	DAGKc. {ECO:0000255|PROSITE- ProRule:PRU00783}.				blood coagulation (GO:0007596)|cAMP-mediated signaling (GO:0019933)|G-protein coupled receptor signaling pathway (GO:0007186)|platelet activation (GO:0030168)|protein kinase C signaling (GO:0070528)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to ATP (GO:0033198)|thrombin receptor signaling pathway (GO:0070493)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	activating transcription factor binding (GO:0033613)|ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|kinase binding (GO:0019900)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)|phospholipase binding (GO:0043274)	p.E706G(1)		breast(1)|endometrium(2)|kidney(2)|lung(2)|prostate(2)	9			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			GGCGTCGGCCTCGTCCACAGA	0.657																																					Esophageal Squamous(17;537 645 4447 26373)	ENST00000273814.3																			1	Substitution - Missense(1)	p.E706G(1)	prostate(1)	breast(1)|endometrium(2)|kidney(2)|lung(2)|prostate(2)	9						c.(2116-2118)gAg>gGg		diacylglycerol kinase, theta 110kDa							54	54	54					4																	956320		2202	4298	6500	SO:0001583	missense	1609				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|platelet activation|protein kinase C signaling cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to ATP|thrombin receptor signaling pathway	cytoskeleton|cytosol|nuclear speck|plasma membrane	activating transcription factor binding|ATP binding|diacylglycerol kinase activity|kinase binding|metal ion binding|phospholipase binding	g.chr4:956320T>C	L38707	CCDS3342.1	4p16.3	2008-08-29	2002-08-29		ENSG00000145214	ENSG00000145214			2856	protein-coding gene	gene with protein product		601207	"diacylglycerol kinase, theta (110kD)"	DAGK4		8617502, 9099683	Standard	NM_001347		Approved	DAGK, DAGK7	uc003gbw.4	P52824	OTTHUMG00000088629	ENST00000273814.3:c.2117A>G	4.37:g.956320T>C	ENSP00000273814:p.Glu706Gly						p.E706G	NM_001347.3	NP_001338.2	P52824	DGKQ_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.0158)		18	2190	-			706			DAGKc.		Q6P3W4	Missense_Mutation	SNP	ENST00000273814.3	37	c.2117A>G	CCDS3342.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	19.49|19.49	3.837104|3.837104	0.71373|0.71373	.|.	.|.	ENSG00000145214|ENSG00000145214	ENST00000273814|ENST00000509465	T|.	0.44083|.	0.93|.	4.9|4.9	4.9|4.9	0.64082|0.64082	Diacylglycerol kinase, catalytic domain (3);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.61286|0.61286	0.2335|0.2335	L|L	0.49350|0.49350	1.555|1.555	0.80722|0.80722	D|D	1|1	P;D|.	0.76494|.	0.875;0.999|.	P;D|.	0.74348|.	0.864;0.983|.	T|T	0.59473|0.59473	-0.7448|-0.7448	10|5	0.72032|.	D|.	0.01|.	.|.	12.7483|12.7483	0.57293|0.57293	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	706;706|.	E9KL49;P52824|.	.;DGKQ_HUMAN|.	G|G	706|640	ENSP00000273814:E706G|.	ENSP00000273814:E706G|.	E|R	-|-	2|1	0|2	DGKQ|DGKQ	946320|946320	1.000000|1.000000	0.71417|0.71417	0.988000|0.988000	0.46212|0.46212	0.087000|0.087000	0.18053|0.18053	5.420000|5.420000	0.66441|0.66441	1.938000|1.938000	0.56188|0.56188	0.533000|0.533000	0.62120|0.62120	GAG|AGG		0.657	DGKQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000200888.1			8	22	0	0	0	0.004482	0	8	22					C	956320	T	C	956320	3	2	179	1	0	0	0	0	1	0	0	0	4473	1551	54	4	735	4	DGKQ	4	956320	Missense_Mutation	SNP	T	TCGA-G9-6496-01A-11D-1786-08		956320	190197956	14	8412											
ADH1B	125	broad.mit.edu	37	chr4	100237249	100237249	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaacctcctggtgccatcctGcagggtcccccgaggattgc	6	8	12	15	1	0	0	0	0	0	0	3	3	3	1	6	3	4	1	6	3	1	1			TCGA-G9-6496-01A-11D-1786-08	TCGA-G9-6496-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	259386a0-60a4-4990-a3c3-36b9bab40927	ecd9e666-76cf-4984-a6b7-01764f387579	g.chr4:100237249G>T	ENST00000305046.8	-	5	440	c.373C>A	c.(373-375)Cag>Aag	p.Q125K	ADH1B_ENST00000394887.3_Missense_Mutation_p.Q85K|ADH1B_ENST00000504498.1_5'Flank			P00325	ADH1B_HUMAN	alcohol dehydrogenase 1B (class I), beta polypeptide	125					ethanol oxidation (GO:0006069)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	alcohol dehydrogenase activity, zinc-dependent (GO:0004024)|zinc ion binding (GO:0008270)	p.Q125K(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	33				OV - Ovarian serous cystadenocarcinoma(123;1.02e-07)	Ethanol(DB00898)|Fomepizole(DB01213)	GTGCCATCCTGCAGGGTCCCC	0.547																																						ENST00000305046.8																			1	Substitution - Missense(1)	p.Q125K(1)	prostate(1)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	33						c.(373-375)Cag>Aag		alcohol dehydrogenase 1B (class I), beta polypeptide	Fomepizole(DB01213)|NADH(DB00157)						71	69	69					4																	100237249		2203	4300	6503	SO:0001583	missense	125				ethanol oxidation|xenobiotic metabolic process	cytosol	alcohol dehydrogenase activity, zinc-dependent|zinc ion binding	g.chr4:100237249G>T	AF153821	CCDS34033.1, CCDS68761.1	4q23	2008-02-05	2007-11-06		ENSG00000196616	ENSG00000196616	1.1.1.1	"Alcohol dehydrogenases"	250	protein-coding gene	gene with protein product		103720		ADH2		3006456	Standard	NM_000668		Approved		uc003hus.4	P00325	OTTHUMG00000161413	ENST00000305046.8:c.373C>A	4.37:g.100237249G>T	ENSP00000306606:p.Gln125Lys					ADH1B_ENST00000394887.3_Missense_Mutation_p.Q85K	p.Q125K			P00325	ADH1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;1.02e-07)	5	440	-			125					A8MYN5|B4DRS9|B4DVC3|Q13711|Q4ZGI9|Q96KI7	Missense_Mutation	SNP	ENST00000305046.8	37	c.373C>A	CCDS34033.1	.	.	.	.	.	.	.	.	.	.	G	12.44	1.938292	0.34189	.	.	ENSG00000196616	ENST00000305046;ENST00000394887	T;T	0.03181	4.02;4.64	3.96	1.81	0.25067	GroES-like (1);Alcohol dehydrogenase GroES-like (1);	1.898070	0.03019	N	0.150431	T	0.03651	0.0104	N	0.20807	0.61	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.14023	0.01;0.01	T	0.40627	-0.9553	10	0.87932	D	0	-0.2903	5.3007	0.15776	0.1711:0.0:0.5183:0.3105	.	85;125	A8MYN5;P00325	.;ADH1B_HUMAN	K	125;85	ENSP00000306606:Q125K;ENSP00000378351:Q85K	ENSP00000306606:Q125K	Q	-	1	0	ADH1B	100456272	0.000000	0.05858	0.026000	0.17262	0.653000	0.38743	-0.054000	0.11826	0.592000	0.29728	0.561000	0.74099	CAG		0.547	ADH1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364853.1	NM_000668		20	33	1	0	6.33239e-15	0.010504	7.20582e-15	20	33					T	100237249	G	T	100237249	3	4	179	1	0	0	0	0	1	0	0	0	308	1328	46	5	774	5	ADH1B	4	100237249	Missense_Mutation	SNP	G	TCGA-G9-6496-01A-11D-1786-08	99280929	100237249	90917027	15	8413											
MEGF10	84466	broad.mit.edu	37	chr5	126771182	126771182	+	Splice_Site	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tggcagtgactgctctcaacGtaagtcttgtttgagaacaa	11	12	10	8	1	2	2	1	2	2	1	3	3	2	2	0	1	3	4	0	1	4	3			TCGA-G9-6496-01A-11D-1786-08	TCGA-G9-6496-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	259386a0-60a4-4990-a3c3-36b9bab40927	ecd9e666-76cf-4984-a6b7-01764f387579	g.chr5:126771182G>C	ENST00000274473.6	+	17	2371		c.e17+1		MEGF10_ENST00000503335.2_Splice_Site	NM_032446.2	NP_115822.1	Q96KG7	MEG10_HUMAN	multiple EGF-like-domains 10						homotypic cell-cell adhesion (GO:0034109)|muscle cell development (GO:0055001)|recognition of apoptotic cell (GO:0043654)|regulation of muscle cell differentiation (GO:0051147)|regulation of skeletal muscle tissue development (GO:0048641)|skeletal muscle satellite cell activation (GO:0014719)|skeletal muscle satellite cell differentiation (GO:0014816)|skeletal muscle satellite cell proliferation (GO:0014841)	cell projection (GO:0042995)|integral component of membrane (GO:0016021)|phagocytic cup (GO:0001891)		p.?(1)		breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(28)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	68		Prostate(80;0.165)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123)		TGCTCTCAACGTAAGTCTTGT	0.373																																						ENST00000274473.6																			1	Unknown(1)	p.?(1)	prostate(1)	breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(28)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	68						c.e17+1		multiple EGF-like-domains 10							96	80	85					5																	126771182		2203	4300	6503	SO:0001630	splice_region_variant	84466				cell adhesion|phagocytosis	basolateral plasma membrane|cell projection|integral to membrane|phagocytic cup		g.chr5:126771182G>C	AK021631	CCDS4142.1	5q33	2008-02-05			ENSG00000145794	ENSG00000145794			29634	protein-coding gene	gene with protein product		612453				11347906	Standard	NM_032446		Approved	KIAA1780	uc003kui.4	Q96KG7	OTTHUMG00000128984	ENST00000274473.6:c.2104+1G>C	5.37:g.126771182G>C						MEGF10_ENST00000503335.2_Splice_Site		NM_032446.2	NP_115822.1	Q96KG7	MEG10_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123)	17	2371	+		Prostate(80;0.165)						Q68DE5|Q8WUL3	Splice_Site	SNP	ENST00000274473.6	37		CCDS4142.1	.	.	.	.	.	.	.	.	.	.	G	26.7	4.760872	0.89932	.	.	ENSG00000145794	ENST00000503335;ENST00000274473	.	.	.	5.85	5.85	0.93711	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.1542	0.98100	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	MEGF10	126799081	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	9.776000	0.99001	2.767000	0.95098	0.563000	0.77884	.		0.373	MEGF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250973.2	NM_032446	Intron	15	17	0	0	0	0.00245	0	15	17					C	126771182	G	C	126771182	5	2	179	1	0	0	0	0	0	0	1	0	9460	1159	40	5	2163	5	MEGF10	5	126771182	Splice_Site	SNP	G	TCGA-G9-6496-01A-11D-1786-08		126771182	54144078	16	8414											
LAMA4	3910	broad.mit.edu	37	chr6	112441551	112441551	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cagttttttgtgaccaacatTaaacatgtaaaccaagcggc	14	11	7	9	1	0	1	0	1	0	0	0	1	0	1	2	1	4	2	2	1	6	5			TCGA-G9-6496-01A-11D-1786-08	TCGA-G9-6496-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	259386a0-60a4-4990-a3c3-36b9bab40927	ecd9e666-76cf-4984-a6b7-01764f387579	g.chr6:112441551T>G	ENST00000230538.7	-	33	4997	c.4600A>C	c.(4600-4602)Aat>Cat	p.N1534H	LAMA4_ENST00000389463.4_Missense_Mutation_p.N1527H|LAMA4_ENST00000424408.2_Missense_Mutation_p.N1527H|LAMA4_ENST00000522006.1_Missense_Mutation_p.N1527H	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN	laminin, alpha 4	1534	Laminin G-like 4. {ECO:0000255|PROSITE- ProRule:PRU00122}.				blood vessel development (GO:0001568)|brown fat cell differentiation (GO:0050873)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)	extracellular matrix structural constituent (GO:0005201)	p.N1527H(1)		NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		TGACCAACATTAAACATGTAA	0.418																																						ENST00000230538.7																			1	Substitution - Missense(1)	p.N1527H(1)	prostate(1)	NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100						c.(4600-4602)Aat>Cat		laminin, alpha 4							125	118	120					6																	112441551		2203	4300	6503	SO:0001583	missense	3910				cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	extracellular matrix structural constituent|receptor binding	g.chr6:112441551T>G		CCDS34514.1, CCDS43491.1, CCDS43492.1	6q21	2014-09-17			ENSG00000112769	ENSG00000112769		"Laminins"	6484	protein-coding gene	gene with protein product		600133				7959779	Standard	NM_001105206		Approved	LAMA3	uc003pvu.3	Q16363	OTTHUMG00000015386	ENST00000230538.7:c.4600A>C	6.37:g.112441551T>G	ENSP00000230538:p.Asn1534His					LAMA4_ENST00000389463.4_Missense_Mutation_p.N1527H|LAMA4_ENST00000522006.1_Missense_Mutation_p.N1527H|LAMA4_ENST00000424408.2_Missense_Mutation_p.N1527H	p.N1534H	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)	33	4997	-		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)	1534			Laminin G-like 4.		Q14731|Q14735|Q15335|Q4LE44|Q5SZG8|Q9BTB8|Q9UE18|Q9UJN9	Missense_Mutation	SNP	ENST00000230538.7	37	c.4600A>C	CCDS43491.1	.	.	.	.	.	.	.	.	.	.	T	23.9	4.465301	0.84425	.	.	ENSG00000112769	ENST00000230538;ENST00000522006;ENST00000389463;ENST00000424408	T;T;T;T	0.79653	-1.29;-1.29;-1.29;-1.29	5.8	5.8	0.92144	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.044369	0.85682	D	0.000000	D	0.87954	0.6308	M	0.77313	2.365	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.89268	0.3602	10	0.62326	D	0.03	.	16.1475	0.81580	0.0:0.0:0.0:1.0	.	1534;1527	Q16363;Q16363-2	LAMA4_HUMAN;.	H	1534;1527;1527;1527	ENSP00000230538:N1534H;ENSP00000429488:N1527H;ENSP00000374114:N1527H;ENSP00000416470:N1527H	ENSP00000230538:N1534H	N	-	1	0	LAMA4	112548244	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.316000	0.65815	2.213000	0.71641	0.528000	0.53228	AAT		0.418	LAMA4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041876.2	NM_001105206		20	16	0	0	0	0.008871	0	20	16					G	112441551	T	G	112441551	3	3	179	1	0	0	0	0	1	0	0	0	8608	1754	61	5	899	5	LAMA4	6	112441551	Missense_Mutation	SNP	T	TCGA-G9-6496-01A-11D-1786-08		112441551	58673516	17	8415											
NOX3	50508	broad.mit.edu	37	chr6	155761273	155761274	+	Splice_Site	INS	-	-	A																															caattcagtggttgtgttctINSaaaaaaaacaacaacaacaa																								rs371739217		TCGA-G9-6496-01A-11D-1786-08	TCGA-G9-6496-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	259386a0-60a4-4990-a3c3-36b9bab40927	ecd9e666-76cf-4984-a6b7-01764f387579	g.chr6:155761273_155761274insA	ENST00000159060.2	-	6	589		c.e6-2			NM_015718.2	NP_056533.1	Q9HBY0	NOX3_HUMAN	NADPH oxidase 3						detection of gravity (GO:0009590)|otolith development (GO:0048840)|superoxide anion generation (GO:0042554)|temperature homeostasis (GO:0001659)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|NADPH oxidase complex (GO:0043020)	superoxide-generating NADPH oxidase activity (GO:0016175)			cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	45		Breast(66;0.0183)		OV - Ovarian serous cystadenocarcinoma(155;2.18e-12)|BRCA - Breast invasive adenocarcinoma(81;0.00815)		GGTTGTGTTCTaaaaaaaacaa	0.356																																						ENST00000159060.2																			0				cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	45						c.e6-2		NADPH oxidase 3				1,4263		0,1,2131						5.5	0.2			64	1,8253		0,1,4126	no	splice-3	NOX3	NM_015718.2		0,2,6257	A1A1,A1R,RR		0.0121,0.0235,0.016				2,12516				SO:0001630	splice_region_variant	50508						electron carrier activity|flavin adenine dinucleotide binding|iron ion binding	g.chr6:155761273_155761274insA	AF190122	CCDS5250.1	6q25.3	2008-05-15			ENSG00000074771	ENSG00000074771			7890	protein-coding gene	gene with protein product		607105				11376945	Standard	NM_015718		Approved	GP91-3	uc003qqm.3	Q9HBY0	OTTHUMG00000015883	ENST00000159060.2:c.487-2->T	6.37:g.155761281_155761281dupA								NM_015718.2	NP_056533.1	Q9HBY0	NOX3_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;2.18e-12)|BRCA - Breast invasive adenocarcinoma(81;0.00815)	6	589	-		Breast(66;0.0183)						Q9HBJ9	Splice_Site	INS	ENST00000159060.2	37		CCDS5250.1																																																																																				0.356	NOX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042819.1		Intron	28	33						28	33	---	---	---	---	A	155761274	-	A	155761273	8	5	179	1	0	1	1	0	0	0	1	0	10557	1536	53	0	1253	0	NOX3	6	155761273	Splice_Site	INS	-	TCGA-G9-6496-01A-11D-1786-08	43319722	155761273	15353794	18	8416											
SRCRB4D	136853	broad.mit.edu	37	chr7	76029805	76029805	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggcgacacactacgttggcGtccaccacgtcccagtcgtc	7	8	10	16	5	0	0	0	0	0	0	4	1	2	0	3	2	1	1	3	2	1	2	rs542129562		TCGA-G9-6496-01A-11D-1786-08	TCGA-G9-6496-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	259386a0-60a4-4990-a3c3-36b9bab40927	ecd9e666-76cf-4984-a6b7-01764f387579	g.chr7:76029805G>A	ENST00000275560.3	-	4	620	c.273C>T	c.(271-273)gaC>gaT	p.D91D	ZP3_ENST00000336517.4_Intron	NM_080744.1	NP_542782.1												p.D91D(1)		autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(9)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	21						CTACGTTGGCGTCCACCACGT	0.701													g|||	1	0.000199681	8e-04	0	5008	,	,		14215	0		0	False		,,,				2504	0					ENST00000275560.3																			1	Substitution - coding silent(1)	p.D91D(1)	prostate(1)	autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(9)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	21						c.(271-273)gaC>gaT		scavenger receptor cysteine rich domain containing, group B (4 domains)																																				SO:0001819	synonymous_variant	136853					extracellular region|membrane	scavenger receptor activity	g.chr7:76029805G>A																												ENST00000275560.3:c.273C>T	7.37:g.76029805G>A						ZP3_ENST00000336517.4_Intron	p.D91D	NM_080744.1	NP_542782.1	Q8WTU2	SRB4D_HUMAN			4	620	-			91			SRCR 1.			Silent	SNP	ENST00000275560.3	37	c.273C>T	CCDS5585.1																																																																																				0.701	SRCRB4D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253001.3			6	7	0	0	0	0.001984	0	6	7					A	76029805	G	A	76029805	2	1	179	1	0	0	0	0	0	0	0	1	15136	1136	40	1		1	SRCRB4D	7	76029805	Silent	SNP	G	TCGA-G9-6496-01A-11D-1786-08		76029805	83108858	19	8417											
ABCB1	5243	broad.mit.edu	37	chr7	87138593	87138593	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atttgaagagagacttacatTaggcagtgactcgatgaagg	14	10	12	5	1	0	5	0	3	0	2	1	7	0	5	0	2	1	1	0	2	4	3			TCGA-G9-6496-01A-11D-1786-08	TCGA-G9-6496-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	259386a0-60a4-4990-a3c3-36b9bab40927	ecd9e666-76cf-4984-a6b7-01764f387579	g.chr7:87138593T>C	ENST00000265724.3	-	27	3904	c.3487A>G	c.(3487-3489)Aat>Gat	p.N1163D	ABCB1_ENST00000543898.1_Missense_Mutation_p.N1099D|ABCB1_ENST00000488737.2_5'UTR	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 1	1163	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				drug transmembrane transport (GO:0006855)|G2/M transition of mitotic cell cycle (GO:0000086)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|stem cell proliferation (GO:0072089)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)|xenobiotic-transporting ATPase activity (GO:0008559)	p.N1163D(1)		NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111	Esophageal squamous(14;0.00164)				Acebutolol(DB01193)|Acetaminophen(DB00316)|Acetylsalicylic acid(DB00945)|Adenosine triphosphate(DB00171)|ado-trastuzumab emtansine(DB05773)|Afatinib(DB08916)|Albendazole(DB00518)|Alfentanil(DB00802)|Alitretinoin(DB00523)|Amantadine(DB00915)|Aminohippurate(DB00345)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amprenavir(DB00701)|Amsacrine(DB00276)|Apixaban(DB06605)|Arsenic trioxide(DB01169)|Astemizole(DB00637)|Atazanavir(DB01072)|Atenolol(DB00335)|Atorvastatin(DB01076)|Axitinib(DB06626)|Azelastine(DB00972)|Azithromycin(DB00207)|Benzocaine(DB01086)|Bepridil(DB01244)|Betamethasone(DB00443)|Biperiden(DB00810)|Boceprevir(DB08873)|Bosutinib(DB06616)|Brentuximab vedotin(DB08870)|Bromocriptine(DB01200)|Buprenorphine(DB00921)|Buspirone(DB00490)|Cabazitaxel(DB06772)|Caffeine(DB00201)|Canagliflozin(DB08907)|Candesartan(DB00796)|Captopril(DB01197)|Carbamazepine(DB00564)|Carfilzomib(DB08889)|Carvedilol(DB01136)|Caspofungin(DB00520)|Chloroquine(DB00608)|Chlorpromazine(DB00477)|Chlorpropamide(DB00672)|Chlorprothixene(DB01239)|Cilazapril(DB01340)|Cimetidine(DB00501)|Ciprofloxacin(DB00537)|Cisplatin(DB00515)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Clofazimine(DB00845)|Clomifene(DB00882)|Clomipramine(DB01242)|Clonidine(DB00575)|Clopidogrel(DB00758)|Clotrimazole(DB00257)|Clozapine(DB00363)|Colchicine(DB01394)|Conjugated Estrogens(DB00286)|Crizotinib(DB08865)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dabigatran etexilate(DB06695)|Dabrafenib(DB08912)|Dactinomycin(DB00970)|Dapagliflozin(DB06292)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Debrisoquin(DB04840)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexamethasone(DB01234)|Dextromethorphan(DB00514)|Diazepam(DB00829)|Diclofenac(DB00586)|Diethylstilbestrol(DB00255)|Digitoxin(DB01396)|Digoxin(DB00390)|Dihydroergotamine(DB00320)|Diltiazem(DB00343)|Dipyridamole(DB00975)|Docetaxel(DB01248)|Domperidone(DB01184)|Doxazosin(DB00590)|Doxepin(DB01142)|Doxorubicin(DB00997)|Dronabinol(DB00470)|Dronedarone(DB04855)|Eletriptan(DB00216)|Enalapril(DB00584)|Enzalutamide(DB08899)|Epinastine(DB00751)|Ergonovine(DB01253)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estrone(DB00655)|Ethinyl Estradiol(DB00977)|Etoposide(DB00773)|Etravirine(DB06414)|Ezetimibe(DB00973)|Felodipine(DB01023)|Fentanyl(DB00813)|Fesoterodine(DB06702)|Fexofenadine(DB00950)|Fidaxomicin(DB08874)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flupentixol(DB00875)|Fluphenazine(DB00623)|Flurazepam(DB00690)|Fluticasone furoate(DB08906)|Fluvoxamine(DB00176)|Gefitinib(DB00317)|Gemcitabine(DB00441)|Glyburide(DB01016)|Gramicidin D(DB00027)|Haloperidol(DB00502)|Hydrocortisone(DB00741)|Ibuprofen(DB01050)|Imatinib(DB00619)|Imipramine(DB00458)|Indacaterol(DB05039)|Indinavir(DB00224)|Indomethacin(DB00328)|Irinotecan(DB00762)|Itraconazole(DB01167)|Ivacaftor(DB08820)|Ivermectin(DB00602)|Ketamine(DB01221)|Ketazolam(DB01587)|Ketoconazole(DB01026)|Lamivudine(DB00709)|Lamotrigine(DB00555)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Lenalidomide(DB00480)|Levetiracetam(DB01202)|Levofloxacin(DB01137)|Levomilnacipran(DB08918)|Levothyroxine(DB00451)|Lidocaine(DB00281)|Linagliptin(DB08882)|Liothyronine(DB00279)|Liotrix(DB01583)|Lisinopril(DB00722)|Lomitapide(DB08827)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Losartan(DB00678)|Lovastatin(DB00227)|Mannitol(DB00742)|Maprotiline(DB00934)|Mebendazole(DB00643)|Mefloquine(DB00358)|Megestrol acetate(DB00351)|Meprobamate(DB00371)|Methadone(DB00333)|Methotrexate(DB00563)|Methylprednisolone(DB00959)|Metoprolol(DB00264)|Miconazole(DB01110)|Midazolam(DB00683)|Mifepristone(DB00834)|Mirabegron(DB08893)|Mitomycin(DB00305)|Mitoxantrone(DB01204)|Morphine(DB00295)|Mycophenolate mofetil(DB00688)|Nadolol(DB01203)|Naloxone(DB01183)|Naltrexone(DB00704)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Neostigmine(DB01400)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nisoldipine(DB00401)|Nitrazepam(DB01595)|Nitrendipine(DB01054)|Nizatidine(DB00585)|Norethindrone(DB00717)|Olanzapine(DB00334)|Omeprazole(DB00338)|Paclitaxel(DB01229)|Pantoprazole(DB00213)|Paroxetine(DB00715)|Pazopanib(DB06589)|Perindopril(DB00790)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Pimozide(DB01100)|Pitavastatin(DB08860)|Pomalidomide(DB08910)|Ponatinib(DB08901)|Posaconazole(DB01263)|Pravastatin(DB00175)|Prazosin(DB00457)|Prednisolone(DB00860)|Prednisone(DB00635)|Probenecid(DB01032)|Progesterone(DB00396)|Promethazine(DB01069)|Propafenone(DB01182)|Propranolol(DB00571)|Protriptyline(DB00344)|Quetiapine(DB01224)|Quinacrine(DB01103)|Quinidine(DB00908)|Quinine(DB00468)|Ranitidine(DB00863)|Reboxetine(DB00234)|Regorafenib(DB08896)|Reserpine(DB00206)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Risperidone(DB00734)|Ritonavir(DB00503)|Rivaroxaban(DB06228)|Roxithromycin(DB00778)|Salicylic acid(DB00936)|Saquinavir(DB01232)|Scopolamine(DB00747)|Selegiline(DB01037)|Sertraline(DB01104)|Silodosin(DB06207)|SIMEPREVIR(DB06290)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sitagliptin(DB01261)|SOFOSBUVIR(DB08934)|Sorafenib(DB00398)|Sparfloxacin(DB01208)|Spironolactone(DB00421)|Streptozocin(DB00428)|Sulfinpyrazone(DB01138)|Sumatriptan(DB00669)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tamoxifen(DB00675)|Telaprevir(DB05521)|Telmisartan(DB00966)|Temsirolimus(DB06287)|Terazosin(DB01162)|Testosterone(DB00624)|Ticagrelor(DB08816)|Timolol(DB00373)|Tolvaptan(DB06212)|Topotecan(DB01030)|Toremifene(DB00539)|Trazodone(DB00656)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Trimethoprim(DB00440)|Trimipramine(DB00726)|Troleandomycin(DB01361)|Vecuronium(DB01339)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)|Vinorelbine(DB00361)|Vismodegib(DB08828)|Voacamine(DB04877)|Zidovudine(DB00495)	AGACTTACATTAGGCAGTGAC	0.493																																						ENST00000265724.3																			1	Substitution - Missense(1)	p.N1163D(1)	prostate(1)	NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111						c.(3487-3489)Aat>Gat		ATP-binding cassette, sub-family B (MDR/TAP), member 1	Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570)						142	123	129					7																	87138593		2203	4300	6503	SO:0001583	missense	5243				G2/M transition of mitotic cell cycle|stem cell proliferation	apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction	ATP binding|protein binding|xenobiotic-transporting ATPase activity	g.chr7:87138593T>C	M14758	CCDS5608.1	7q21.12	2012-03-14	2004-05-12		ENSG00000085563	ENSG00000085563		"CD molecules", "ATP binding cassette transporters / subfamily B"	40	protein-coding gene	gene with protein product	"multidrug resistance protein 1"	171050	"colchicin sensitivity"	PGY1, MDR1, CLCS		3027054	Standard	NM_000927		Approved	P-gp, CD243, GP170, ABC20	uc003uiz.2	P08183	OTTHUMG00000023393	ENST00000265724.3:c.3487A>G	7.37:g.87138593T>C	ENSP00000265724:p.Asn1163Asp					ABCB1_ENST00000543898.1_Missense_Mutation_p.N1099D|ABCB1_ENST00000488737.2_5'UTR	p.N1163D	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN			27	3904	-	Esophageal squamous(14;0.00164)		1163			ABC transporter 2.		A8K294|B5AK60|Q12755|Q14812	Missense_Mutation	SNP	ENST00000265724.3	37	c.3487A>G	CCDS5608.1	.	.	.	.	.	.	.	.	.	.	T	7.550	0.662455	0.14645	.	.	ENSG00000085563	ENST00000543174;ENST00000265724;ENST00000543898	D;D	0.89875	-2.58;-2.58	5.93	-1.45	0.08828	ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.978011	0.08459	N	0.942728	T	0.73442	0.3587	N	0.11427	0.14	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.57201	-0.7852	10	0.15066	T	0.55	-1.1918	5.8532	0.18704	0.0:0.3687:0.2258:0.4055	.	1099;1163	B5AK60;P08183	.;MDR1_HUMAN	D	944;1163;1099	ENSP00000265724:N1163D;ENSP00000444095:N1099D	ENSP00000265724:N1163D	N	-	1	0	ABCB1	86976529	0.000000	0.05858	0.002000	0.10522	0.008000	0.06430	-0.339000	0.07832	-0.321000	0.08627	-0.468000	0.05107	AAT		0.493	ABCB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335444.2	NM_000927		23	178	0	0	0	0.014323	0	23	178					C	87138593	T	C	87138593	3	2	179	1	0	0	0	0	1	0	0	0	40	1754	61	4	367	4	ABCB1	7	87138593	Missense_Mutation	SNP	T	TCGA-G9-6496-01A-11D-1786-08	11108788	87138593	72000070	20	8418											
CUX1	1523	broad.mit.edu	37	chr7	101845118	101845118	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccaaggccgaagaaacgggCggcgggaaagagaagggcag	14	0	19	8	4	0	2	0	0	0	2	0	5	0	3	2	5	1	1	2	5	5	0	rs375527499		TCGA-G9-6496-01A-11D-1786-08	TCGA-G9-6496-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	259386a0-60a4-4990-a3c3-36b9bab40927	ecd9e666-76cf-4984-a6b7-01764f387579	g.chr7:101845118C>T	ENST00000292535.7	+	18	2579	c.2541C>T	c.(2539-2541)ggC>ggT	p.G847G	CUX1_ENST00000550008.2_Silent_p.G791G|CUX1_ENST00000560541.1_Intron|CUX1_ENST00000425244.2_Intron|CUX1_ENST00000556210.1_Silent_p.G689G|CUX1_ENST00000546411.2_Silent_p.G745G|CUX1_ENST00000292538.4_Intron|CUX1_ENST00000393824.3_Intron|CUX1_ENST00000437600.4_Intron|CUX1_ENST00000360264.3_Silent_p.G858G|CUX1_ENST00000549414.2_Silent_p.G825G|CUX1_ENST00000547394.2_Intron	NM_181552.3	NP_853530.2	P39880	CUX1_HUMAN	cut-like homeobox 1	847					auditory receptor cell differentiation (GO:0042491)|kidney development (GO:0001822)|lung development (GO:0030324)|multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of dendrite morphogenesis (GO:0050775)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|retrograde transport, vesicle recycling within Golgi (GO:0000301)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi membrane (GO:0000139)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding (GO:0043565)	p.G847G(1)		breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						AAGAAACGGGCGGCGGGAAAG	0.687																																						ENST00000360264.3																			1	Substitution - coding silent(1)	p.G847G(1)	prostate(1)	breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						c.(2572-2574)ggC>ggT		cut-like homeobox 1		C	,,,,,,	0,4404		0,0,2202	27	30	29		2574,,,,,,2541	1.5	0	7		29	4,8594	3.7+/-12.6	0,4,4295	no	coding-synonymous,intron,intron,intron,intron,intron,coding-synonymous	CUX1	NM_001202543.1,NM_001202544.1,NM_001202545.1,NM_001202546.1,NM_001913.3,NM_181500.2,NM_181552.3	,,,,,,	0,4,6497	TT,TC,CC		0.0465,0.0,0.0308	,,,,,,	858/1517,,,,,,847/1506	101845118	4,12998	2202	4299	6501	SO:0001819	synonymous_variant	1523				negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:101845118C>T	M74099	CCDS5720.1, CCDS5721.1, CCDS47672.1, CCDS56498.1, CCDS56499.1, CCDS56500.1, CCDS59071.1	7q22.1	2012-10-03	2007-11-07	2007-11-07	ENSG00000257923	ENSG00000257923		"Homeoboxes / CUT class"	2557	protein-coding gene	gene with protein product	"golgi integral membrane protein 6"	116896	"cut (Drosophila)-like 1 (CCAAT displacement protein)", "cut-like 1, CCAAT displacement protein (Drosophila)"	CUTL1		8468066, 9799793, 15004235	Standard	NM_001202543		Approved	CDP, CDP1, CUX, CUT, Clox, CDP/Cut, CDP/Cux, Cux/CDP, CASP, GOLIM6	uc003uyx.4	P39880	OTTHUMG00000157129	ENST00000292535.7:c.2541C>T	7.37:g.101845118C>T						CUX1_ENST00000550008.2_Silent_p.G791G|CUX1_ENST00000546411.2_Silent_p.G745G|CUX1_ENST00000560541.1_Intron|CUX1_ENST00000437600.4_Intron|CUX1_ENST00000292535.7_Silent_p.G847G|CUX1_ENST00000292538.4_Intron|CUX1_ENST00000425244.2_Intron|CUX1_ENST00000556210.1_Silent_p.G689G|CUX1_ENST00000549414.2_Silent_p.G825G|CUX1_ENST00000547394.2_Intron|CUX1_ENST00000393824.3_Intron	p.G858G	NM_001202543.1	NP_001189472.1	P39880	CUX1_HUMAN			18	2594	+			847					B3KV79|J3KQV9|Q6NYH4|Q75LE5|Q75MT2|Q75MT3|Q86UJ7|Q9UEV5	Silent	SNP	ENST00000292535.7	37	c.2574C>T	CCDS5721.1																																																																																				0.687	CUX1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000347535.1	NM_001913		5	75	0	0	0	0.014758	0	5	75					T	101845118	C	T	101845118	2	4	179	1	0	0	0	0	0	0	0	1	4064	755	27	1		1	CUX1	7	101845118	Silent	SNP	C	TCGA-G9-6496-01A-11D-1786-08	14706525	101845118	57293545	21	8419											
CTTNBP2	83992	broad.mit.edu	37	chr7	117386131	117386131	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttccttctgggccgtggaaaAtgacattatgatattgctca	10	14	9	8	1	2	2	1	2	1	0	3	3	3	3	2	2	1	1	2	2	4	5			TCGA-G9-6496-01A-11D-1786-08	TCGA-G9-6496-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	259386a0-60a4-4990-a3c3-36b9bab40927	ecd9e666-76cf-4984-a6b7-01764f387579	g.chr7:117386131A>T	ENST00000160373.3	-	13	3462	c.3371T>A	c.(3370-3372)aTt>aAt	p.I1124N		NM_033427.2	NP_219499.1	Q8WZ74	CTTB2_HUMAN	cortactin binding protein 2	1124					brain development (GO:0007420)	cell projection (GO:0042995)|synaptic vesicle (GO:0008021)		p.I1124N(1)		breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83	Lung NSC(10;0.0018)|all_lung(10;0.002)			LUSC - Lung squamous cell carcinoma(290;0.133)		GCCGTGGAAAATGACATTATG	0.398											OREG0003442	type=REGULATORY REGION|Gene=CTTNBP2|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																										ENST00000160373.3																			1	Substitution - Missense(1)	p.I1124N(1)	prostate(1)	breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83						c.(3370-3372)aTt>aAt		cortactin binding protein 2							139	128	132					7																	117386131		2203	4300	6503	SO:0001583	missense	83992							g.chr7:117386131A>T		CCDS5774.1	7q31	2013-01-10	2004-06-08	2004-06-09	ENSG00000077063	ENSG00000077063		"Ankyrin repeat domain containing"	15679	protein-coding gene	gene with protein product		609772	"cortactin binding protein 2"	CORTBP2, C7orf8		11707066	Standard	XM_005250635		Approved	KIAA1758, Orf4	uc003vjf.3	Q8WZ74	OTTHUMG00000022880	ENST00000160373.3:c.3371T>A	7.37:g.117386131A>T	ENSP00000160373:p.Ile1124Asn		OREG0003442	type=REGULATORY REGION|Gene=CTTNBP2|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	1480		p.I1124N	NM_033427.2	NP_219499.1	Q8WZ74	CTTB2_HUMAN		LUSC - Lung squamous cell carcinoma(290;0.133)	13	3462	-	Lung NSC(10;0.0018)|all_lung(10;0.002)		1124					O43389|Q7LG11|Q9C0A5	Missense_Mutation	SNP	ENST00000160373.3	37	c.3371T>A	CCDS5774.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	25.2|25.2	4.610605|4.610605	0.87258|0.87258	.|.	.|.	ENSG00000077063|ENSG00000077063	ENST00000446636|ENST00000160373	.|T	.|0.76060	.|-0.99	5.87|5.87	5.87|5.87	0.94306|0.94306	.|.	.|0.188326	.|0.56097	.|D	.|0.000027	D|D	0.83880|0.83880	0.5350|0.5350	M|M	0.85373|0.85373	2.75|2.75	0.58432|0.58432	D|D	0.999994|0.999994	.|D	.|0.59767	.|0.986	.|P	.|0.52514	.|0.701	D|D	0.86921|0.86921	0.2067|0.2067	5|10	.|0.87932	.|D	.|0	-11.9651|-11.9651	16.5764|16.5764	0.84681|0.84681	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|1124	.|Q8WZ74	.|CTTB2_HUMAN	Q|N	611|1124	.|ENSP00000160373:I1124N	.|ENSP00000160373:I1124N	H|I	-|-	3|2	2|0	CTTNBP2|CTTNBP2	117173367|117173367	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	7.077000|7.077000	0.76814|0.76814	2.371000|2.371000	0.80710|0.80710	0.533000|0.533000	0.62120|0.62120	CAT|ATT		0.398	CTTNBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059201.4	NM_033427		24	47	0	0	0	0.01892	0	24	47					T	117386131	A	T	117386131	3	4	179	1	0	0	0	0	1	0	0	0	4045	101	4	5	1664	5	CTTNBP2	7	117386131	Missense_Mutation	SNP	A	TCGA-G9-6496-01A-11D-1786-08	15541013	117386131	41752532	22	8420											
TRYX3	136541	broad.mit.edu	37	chr7	141952406	141952406	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagattacagagatgttcacAgtttgcagtgaatcgggctc	11	11	12	7	1	1	3	1	1	0	2	3	5	1	3	0	1	2	4	0	1	2	3			TCGA-G9-6496-01A-11D-1786-08	TCGA-G9-6496-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	259386a0-60a4-4990-a3c3-36b9bab40927	ecd9e666-76cf-4984-a6b7-01764f387579	g.chr7:141952406A>C	ENST00000552471.1	-	4	781	c.462T>G	c.(460-462)acT>acG	p.T154T	PRSS58_ENST00000547058.2_Silent_p.T154T			Q8IYP2	PRS58_HUMAN	protease, serine, 58	154	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)	p.T154T(2)		kidney(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(2)|skin(2)	19						AGATGTTCACAGTTTGCAGTG	0.383																																						ENST00000552471.1																			2	Substitution - coding silent(2)	p.T154T(2)	prostate(2)	kidney(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(2)|skin(2)	19						c.(460-462)acT>acG		protease, serine, 58							134	126	129					7																	141952406		2203	4300	6503	SO:0001819	synonymous_variant	136541				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr7:141952406A>C		CCDS5871.1	7q34	2012-10-03			ENSG00000258223	ENSG00000258223	3.4.21.4	"Serine peptidases / Serine peptidases"	39125	protein-coding gene	gene with protein product	"trypsin X3"						Standard	NM_001001317		Approved	TRYX3	uc003vxc.4	Q8IYP2	OTTHUMG00000158565	ENST00000552471.1:c.462T>G	7.37:g.141952406A>C						PRSS58_ENST00000547058.2_Silent_p.T154T	p.T154T			Q8IYP2	PRS58_HUMAN			4	781	-			154			Peptidase S1.		B3KVJ6|D3DXD2	Silent	SNP	ENST00000552471.1	37	c.462T>G	CCDS5871.1																																																																																				0.383	PRSS58-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351328.2	NM_001001317		9	229	0	0	0	0.006214	0	9	229					C	141952406	A	C	141952406	2	2	179	1	0	0	0	0	0	0	0	1	16601	175	7	5		5	TRYX3	7	141952406	Silent	SNP	A	TCGA-G9-6496-01A-11D-1786-08	24566275	141952406	17186257	23	8421											
SLC45A4	57210	broad.mit.edu	37	chr8	142222492	142222492	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tcaggaagcccaggaaagagCccacagaggccaccatgggg	13	2	14	12	0	1	2	1	0	0	2	1	4	1	4	4	5	2	0	4	5	2	0			TCGA-G9-6496-01A-11D-1786-08	TCGA-G9-6496-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	259386a0-60a4-4990-a3c3-36b9bab40927	ecd9e666-76cf-4984-a6b7-01764f387579	g.chr8:142222492C>T	ENST00000024061.3	-	7	2259	c.1952G>A	c.(1951-1953)gGc>gAc	p.G651D	SLC45A4_ENST00000517878.1_Missense_Mutation_p.G702D|SLC45A4_ENST00000433583.2_Missense_Mutation_p.G644D|SLC45A4_ENST00000519067.1_Missense_Mutation_p.G651D	NM_001080431.1	NP_001073900.1	Q5BKX6	S45A4_HUMAN	solute carrier family 45, member 4						transport (GO:0006810)	integral component of membrane (GO:0016021)		p.G651D(1)		breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31	all_cancers(97;1.52e-15)|all_epithelial(106;2.92e-14)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0493)			CAGGAAAGAGCCCACAGAGGC	0.627																																						ENST00000519067.1																			1	Substitution - Missense(1)	p.G651D(1)	prostate(1)	breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31						c.(1951-1953)gGc>gAc		solute carrier family 45, member 4							59	61	61					8																	142222492		2203	4300	6503	SO:0001583	missense	57210				transport	integral to membrane		g.chr8:142222492C>T	AB032952	CCDS34948.1, CCDS69550.1, CCDS75795.1	8q24.3	2013-05-22						"Solute carriers"	29196	protein-coding gene	gene with protein product							Standard	NM_001080431		Approved	KIAA1126	uc003ywd.1	Q5BKX6		ENST00000024061.3:c.1952G>A	8.37:g.142222492C>T	ENSP00000024061:p.Gly651Asp					SLC45A4_ENST00000517878.1_Missense_Mutation_p.G702D|SLC45A4_ENST00000433583.2_Missense_Mutation_p.G644D|SLC45A4_ENST00000024061.3_Missense_Mutation_p.G651D	p.G651D			Q5BKX6	S45A4_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0493)		7	2255	-	all_cancers(97;1.52e-15)|all_epithelial(106;2.92e-14)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		702					Q6ZRI2|Q9ULU3	Missense_Mutation	SNP	ENST00000024061.3	37	c.1952G>A	CCDS34948.1	.	.	.	.	.	.	.	.	.	.	C	32	5.166974	0.94768	.	.	ENSG00000022567	ENST00000519067;ENST00000517878;ENST00000433583;ENST00000024061	T;T;T;T	0.81078	-1.45;-1.45;-1.45;-1.45	5.27	5.27	0.74061	.	0.000000	0.85682	D	0.000000	D	0.89677	0.6784	M	0.74881	2.28	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.996;0.998	D	0.89754	0.3942	10	0.51188	T	0.08	-43.6499	18.9005	0.92440	0.0:1.0:0.0:0.0	.	702;651;651	E7EV90;Q5BKX6-3;Q5BKX6-2	.;.;.	D	651;702;644;651	ENSP00000429059:G651D;ENSP00000428137:G702D;ENSP00000400799:G644D;ENSP00000024061:G651D	ENSP00000024061:G651D	G	-	2	0	SLC45A4	142291674	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.272000	0.78516	2.453000	0.82957	0.655000	0.94253	GGC		0.627	SLC45A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378571.3	XM_050325		18	37	0	0	0	0.010504	0	18	37					T	142222492	C	T	142222492	3	4	179	1	0	0	0	0	1	0	0	0	14643	739	26	3	452	3	SLC45A4	8	142222492	Missense_Mutation	SNP	C	TCGA-G9-6496-01A-11D-1786-08		142222492	4141530	24	8422											
BAI1	575	broad.mit.edu	37	chr8	143603449	143603449	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acctccggaaccgcctcatcCgcaagcgcttcctctgcctg	6	8	8	19	4	2	0	1	0	1	0	5	1	5	1	7	1	3	2	7	1	2	1			TCGA-G9-6496-01A-11D-1786-08	TCGA-G9-6496-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	259386a0-60a4-4990-a3c3-36b9bab40927	ecd9e666-76cf-4984-a6b7-01764f387579	g.chr8:143603449C>T	ENST00000517894.1	+	21	4042	c.3148C>T	c.(3148-3150)Cgc>Tgc	p.R1050C	BAI1_ENST00000323289.5_Missense_Mutation_p.R1050C			O14514	BAI1_HUMAN	brain-specific angiogenesis inhibitor 1	1050					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell proliferation (GO:0008285)|neuropeptide signaling pathway (GO:0007218)|peripheral nervous system development (GO:0007422)|signal transduction (GO:0007165)	cell-cell junction (GO:0005911)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.R1050C(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(28)|ovary(4)|pancreas(1)|prostate(7)	57	all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					CCGCCTCATCCGCAAGCGCTT	0.652																																						ENST00000517894.1																			1	Substitution - Missense(1)	p.R1050C(1)	prostate(1)	NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(28)|ovary(4)|pancreas(1)|prostate(7)	57						c.(3148-3150)Cgc>Tgc		brain-specific angiogenesis inhibitor 1							31	41	37					8																	143603449		2200	4299	6499	SO:0001583	missense	575				axonogenesis|cell adhesion|negative regulation of angiogenesis|negative regulation of cell proliferation|neuropeptide signaling pathway|peripheral nervous system development	cell-cell junction|integral to plasma membrane	G-protein coupled receptor activity|protein binding	g.chr8:143603449C>T	AB005297	CCDS64985.1	8q24.3	2014-08-08			ENSG00000181790	ENSG00000181790		"-", "GPCR / Class B : Orphans"	943	protein-coding gene	gene with protein product		602682				9533023	Standard	NM_001702		Approved		uc003ywm.3	O14514	OTTHUMG00000164732	ENST00000517894.1:c.3148C>T	8.37:g.143603449C>T	ENSP00000430945:p.Arg1050Cys					BAI1_ENST00000323289.5_Missense_Mutation_p.R1050C	p.R1050C			O14514	BAI1_HUMAN			21	4042	+	all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)		1050						Missense_Mutation	SNP	ENST00000517894.1	37	c.3148C>T		.	.	.	.	.	.	.	.	.	.	C	25.8	4.672201	0.88348	.	.	ENSG00000181790	ENST00000517894;ENST00000323289	T;T	0.39406	1.08;1.08	3.78	3.78	0.43462	.	0.156800	0.43110	U	0.000612	T	0.62829	0.2460	M	0.86740	2.835	0.80722	D	1	D	0.67145	0.996	P	0.56648	0.803	T	0.73388	-0.3998	10	0.87932	D	0	.	14.6053	0.68475	0.0:1.0:0.0:0.0	.	1050	E9PBK0	.	C	1050	ENSP00000430945:R1050C;ENSP00000313046:R1050C	ENSP00000313046:R1050C	R	+	1	0	BAI1	143600451	1.000000	0.71417	1.000000	0.80357	0.926000	0.56050	3.100000	0.50275	1.641000	0.50575	0.305000	0.20034	CGC		0.652	BAI1-001	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000379963.3	NM_001702		10	30	0	0	0	0.010729	0	10	30					T	143603449	C	T	143603449	3	4	179	1	0	0	0	0	1	0	0	0	1298	652	23	2	3226	2	BAI1	8	143603449	Missense_Mutation	SNP	C	TCGA-G9-6496-01A-11D-1786-08	1380957	143603449	2760573	25	8423											
SLC27A4	10999	broad.mit.edu	37	chr9	131107632	131107632	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gtagccaacttcctgcaggcCcggggcctggcctcgggcga	5	6	15	15	3	0	0	0	0	0	0	2	1	1	0	5	5	3	2	5	5	2	2			TCGA-G9-6496-01A-11D-1786-08	TCGA-G9-6496-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	259386a0-60a4-4990-a3c3-36b9bab40927	ecd9e666-76cf-4984-a6b7-01764f387579	g.chr9:131107632C>G	ENST00000300456.4	+	3	477	c.360C>G	c.(358-360)gcC>gcG	p.A120A	SLC27A4_ENST00000372870.1_Intron	NM_005094.3	NP_005085.2	Q6P1M0	S27A4_HUMAN	solute carrier family 27 (fatty acid transporter), member 4	120					fatty acid transport (GO:0015908)|lipid metabolic process (GO:0006629)|long-chain fatty acid import (GO:0044539)|long-chain fatty acid metabolic process (GO:0001676)|long-chain fatty acid transport (GO:0015909)|medium-chain fatty acid transport (GO:0001579)|response to nutrient (GO:0007584)|skin development (GO:0043588)|transmembrane transport (GO:0055085)|transport (GO:0006810)|very long-chain fatty acid catabolic process (GO:0042760)	brush border membrane (GO:0031526)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	fatty acid transporter activity (GO:0015245)|long-chain fatty acid-CoA ligase activity (GO:0004467)|nucleotide binding (GO:0000166)|very long-chain fatty acid-CoA ligase activity (GO:0031957)	p.A120A(1)		autonomic_ganglia(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(2)	13						TCCTGCAGGCCCGGGGCCTGG	0.622																																					Pancreas(107;1554 2241 10946 12953)	ENST00000300456.3																			1	Substitution - coding silent(1)	p.A120A(1)	prostate(1)	autonomic_ganglia(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(2)	13						c.(358-360)gcC>gcG		solute carrier family 27 (fatty acid transporter), member 4							57	52	54					9																	131107632		2203	4300	6503	SO:0001819	synonymous_variant	10999				long-chain fatty acid transport|transmembrane transport	integral to membrane	fatty acid transporter activity|nucleotide binding|protein binding	g.chr9:131107632C>G	AF055899	CCDS6899.1	9q34.13	2013-05-22			ENSG00000167114	ENSG00000167114		"Acyl-CoA synthetase family", "Solute carriers"	10998	protein-coding gene	gene with protein product		604194				9878842	Standard	NM_005094		Approved	FATP4, ACSVL4	uc004but.3	Q6P1M0	OTTHUMG00000020746	ENST00000300456.4:c.360C>G	9.37:g.131107632C>G						SLC27A4_ENST00000372870.1_Intron	p.A120A	NM_005094.3	NP_005085.2	Q6P1M0	S27A4_HUMAN			3	477	+			120					A8K2F7|O95186|Q96G53	Silent	SNP	ENST00000300456.4	37	c.360C>G	CCDS6899.1																																																																																				0.622	SLC27A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054432.2			16	29	0	0	0	0.004007	0	16	29					G	131107632	C	G	131107632	2	3	179	1	0	0	0	0	0	0	0	1	14528	610	22	5		5	SLC27A4	9	131107632	Silent	SNP	C	TCGA-G9-6496-01A-11D-1786-08		131107632	10105799	26	8424											
TET1	80312	broad.mit.edu	37	chr10	70446226	70446226	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acagatgagtttggctccaaGgaaggaatggaagccaagat	15	7	13	6	0	0	3	0	1	0	2	1	6	1	6	2	4	1	2	2	4	5	1			TCGA-G9-6496-01A-11D-1786-08	TCGA-G9-6496-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	259386a0-60a4-4990-a3c3-36b9bab40927	ecd9e666-76cf-4984-a6b7-01764f387579	g.chr10:70446226G>A	ENST00000373644.4	+	11	5375	c.5166G>A	c.(5164-5166)aaG>aaA	p.K1722K		NM_030625.2	NP_085128.2	Q8NFU7	TET1_HUMAN	tet methylcytosine dioxygenase 1	1722					chromatin modification (GO:0016568)|DNA demethylation (GO:0080111)|inner cell mass cell differentiation (GO:0001826)|negative regulation of methylation-dependent chromatin silencing (GO:0090310)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein O-linked glycosylation (GO:0006493)|regulation of DNA methylation (GO:0044030)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	iron ion binding (GO:0005506)|methylcytosine dioxygenase activity (GO:0070579)|structure-specific DNA binding (GO:0043566)|zinc ion binding (GO:0008270)	p.K1722K(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2)	21						TTGGCTCCAAGGAAGGAATGG	0.498																																						ENST00000373644.4																			1	Substitution - coding silent(1)	p.K1722K(1)	prostate(1)	breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2)	21						c.(5164-5166)aaG>aaA		tet methylcytosine dioxygenase 1							75	77	76					10																	70446226		2203	4300	6503	SO:0001819	synonymous_variant	80312				DNA demethylation|inner cell mass cell differentiation|negative regulation of methylation-dependent chromatin silencing|stem cell maintenance		iron ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|structure-specific DNA binding|zinc ion binding	g.chr10:70446226G>A	AF430147	CCDS7281.1	10q21	2014-02-18	2011-09-30	2008-03-12	ENSG00000138336	ENSG00000138336			29484	protein-coding gene	gene with protein product	"leukemia-associated protein with a CXXC domain", "ten-eleven translocation-1"	607790	"CXXC zinc finger 6", "tet oncogene 1"	CXXC6		12124344, 12646957	Standard	NM_030625		Approved	LCX, KIAA1676, bA119F7.1	uc001jok.4	Q8NFU7	OTTHUMG00000018359	ENST00000373644.4:c.5166G>A	10.37:g.70446226G>A							p.K1722K	NM_030625.2	NP_085128.2	Q8NFU7	TET1_HUMAN			11	5375	+			1722					Q5VUP7|Q7Z6B6|Q8TCR1|Q9C0I7	Silent	SNP	ENST00000373644.4	37	c.5166G>A	CCDS7281.1																																																																																				0.498	TET1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048354.1	NM_030625		51	75	0	0	0	0.01441	0	51	75					A	70446226	G	A	70446226	2	1	179	1	0	0	0	0	0	0	0	1	15766	991	35	3		3	TET1	10	70446226	Silent	SNP	G	TCGA-G9-6496-01A-11D-1786-08		70446226	65088521	27	8425											
MKI67	4288	broad.mit.edu	37	chr10	129901213	129901213	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgggttctactttaggggccCgaagaactcttctggatatt	8	13	11	9	2	3	1	0	0	3	1	3	3	3	2	1	4	2	1	1	4	5	7	rs267602414		TCGA-G9-6496-01A-11D-1786-08	TCGA-G9-6496-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	259386a0-60a4-4990-a3c3-36b9bab40927	ecd9e666-76cf-4984-a6b7-01764f387579	g.chr10:129901213C>G	ENST00000368654.3	-	13	9266	c.8891G>C	c.(8890-8892)cGg>cCg	p.R2964P	MKI67_ENST00000368653.3_Missense_Mutation_p.R2604P	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	2964					cell proliferation (GO:0008283)|cellular response to heat (GO:0034605)|DNA metabolic process (GO:0006259)|hyaluronan metabolic process (GO:0030212)|meiotic nuclear division (GO:0007126)|organ regeneration (GO:0031100)|response to organic cyclic compound (GO:0014070)	chromosome, centromeric region (GO:0000775)|condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)	p.R2964P(1)		NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				TTTAGGGGCCCGAAGAACTCT	0.493																																						ENST00000368654.3																			1	Substitution - Missense(1)	p.R2964P(1)	prostate(1)	NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159						c.(8890-8892)cGg>cCg		marker of proliferation Ki-67							87	91	89					10																	129901213		2203	4300	6503	SO:0001583	missense	4288				cell proliferation	nucleolus	ATP binding|protein C-terminus binding	g.chr10:129901213C>G	X65550	CCDS7659.1, CCDS53588.1	10q26.2	2014-06-12	2013-10-10		ENSG00000148773	ENSG00000148773			7107	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 105"	176741	"antigen identified by monoclonal antibody Ki-67"			2571566, 16206250	Standard	NM_002417		Approved	MIB-, PPP1R105	uc001lke.3	P46013	OTTHUMG00000019255	ENST00000368654.3:c.8891G>C	10.37:g.129901213C>G	ENSP00000357643:p.Arg2964Pro					MKI67_ENST00000368653.3_Missense_Mutation_p.R2604P	p.R2964P	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN			13	9266	-		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)	2964					Q5VWH2	Missense_Mutation	SNP	ENST00000368654.3	37	c.8891G>C	CCDS7659.1	.	.	.	.	.	.	.	.	.	.	C	13.99	2.402712	0.42613	.	.	ENSG00000148773	ENST00000368654;ENST00000368653;ENST00000537609	T;T	0.02812	4.19;4.15	4.05	2.58	0.30949	.	0.306550	0.23391	N	0.048693	T	0.05960	0.0155	L	0.29908	0.895	0.09310	N	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.997;0.998;0.997	T	0.37361	-0.9709	10	0.25106	T	0.35	.	7.1254	0.25469	0.0:0.8376:0.0:0.1624	.	2963;2604;2964	F5H4V4;P46013-2;P46013	.;.;KI67_HUMAN	P	2964;2604;2963	ENSP00000357643:R2964P;ENSP00000357642:R2604P	ENSP00000357642:R2604P	R	-	2	0	MKI67	129791203	0.003000	0.15002	0.006000	0.13384	0.013000	0.08279	0.589000	0.23939	0.874000	0.35823	0.561000	0.74099	CGG		0.493	MKI67-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050999.1	NM_002417		58	133	0	0	0	0.01441	0	58	133					G	129901213	C	G	129901213	3	3	179	1	0	0	0	0	1	0	0	0	9598	652	23	5	891	5	MKI67	10	129901213	Missense_Mutation	SNP	C	TCGA-G9-6496-01A-11D-1786-08	59454987	129901213	5633534	28	8426											
OR51D1	390038	broad.mit.edu	37	chr11	4661689	4661690	+	Frame_Shift_Del	DEL	CT	CT	-																															ctctcagtcatgggtgtggaCtctctcttcattggcttctc																										TCGA-G9-6496-01A-11D-1786-08	TCGA-G9-6496-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	259386a0-60a4-4990-a3c3-36b9bab40927	ecd9e666-76cf-4984-a6b7-01764f387579	g.chr11:4661689_4661690delCT	ENST00000357605.2	+	1	745_746	c.669_670delCT	c.(667-672)gactctfs	p.S224fs	OR51E1_ENST00000396952.5_5'Flank	NM_001004751.2	NP_001004751.1	Q8NGF3	O51D1_HUMAN	olfactory receptor, family 51, subfamily D, member 1	224						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|liver(2)|lung(14)|prostate(1)|skin(2)|urinary_tract(1)	27		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;2.74e-13)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|GBM - Glioblastoma multiforme(2;0.0841)|LUSC - Lung squamous cell carcinoma(625;0.19)		TGGGTGTGGACTCTCTCTTCAT	0.495																																						ENST00000357605.2																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|liver(2)|lung(14)|prostate(1)|skin(2)|urinary_tract(1)	27						c.(667-672)gactfs		olfactory receptor, family 51, subfamily D, member 1																																				SO:0001589	frameshift_variant	390038				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4661689_4661690delCT	AB065855	CCDS31357.1	11p15.4	2012-08-09			ENSG00000197428	ENSG00000197428		"GPCR / Class A : Olfactory receptors"	15193	protein-coding gene	gene with protein product							Standard	NM_001004751		Approved	OR51D1Q	uc010qyk.2	Q8NGF3	OTTHUMG00000165724	ENST00000357605.2:c.669_670delCT	11.37:g.4661695_4661696delCT	ENSP00000350222:p.Ser224fs						p.DS223fs	NM_001004751.2	NP_001004751.1	Q8NGF3	O51D1_HUMAN		Epithelial(150;2.74e-13)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|GBM - Glioblastoma multiforme(2;0.0841)|LUSC - Lung squamous cell carcinoma(625;0.19)	1	745_746	+		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)	223					B9EIK4	Frame_Shift_Del	DEL	ENST00000357605.2	37	c.669_670delCT	CCDS31357.1																																																																																				0.495	OR51D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385956.1	NM_001004751		40	76						40	76	---	---	---	---	-	4661690	CT	-	4661689	7	5	179	1	0	1	0	1	0	0	0	0	11093	564	20	0	671	0	OR51D1	11	4661689	Frame_Shift_Del	DEL	CT	TCGA-G9-6496-01A-11D-1786-08		4661689	130344827	29	8427											
TWF1	5756	broad.mit.edu	37	chr12	44189532	44189532	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcataaaggaagtctgcagtCaactcatccccattgtctat	12	12	6	11	0	5	0	3	0	2	0	6	1	6	1	2	1	2	1	2	1	5	3			TCGA-G9-6496-01A-11D-1786-08	TCGA-G9-6496-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	259386a0-60a4-4990-a3c3-36b9bab40927	ecd9e666-76cf-4984-a6b7-01764f387579	g.chr12:44189532C>A	ENST00000395510.2	-	9	1038	c.909G>T	c.(907-909)ttG>ttT	p.L303F	TWF1_ENST00000552521.1_Missense_Mutation_p.L205F|TWF1_ENST00000325127.4_Missense_Mutation_p.L337F|TWF1_ENST00000548315.1_Missense_Mutation_p.L310F	NM_001242397.1|NM_002822.4	NP_001229326.1|NP_002813.3	Q12792	TWF1_HUMAN	twinfilin actin-binding protein 1	303	ADF-H 2. {ECO:0000255|PROSITE- ProRule:PRU00599}.				barbed-end actin filament capping (GO:0051016)|negative regulation of actin filament polymerization (GO:0030837)|peptidyl-tyrosine phosphorylation (GO:0018108)|regulation of actin phosphorylation (GO:0043538)|sequestering of actin monomers (GO:0042989)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|myofibril (GO:0030016)|perinuclear region of cytoplasm (GO:0048471)|ruffle membrane (GO:0032587)	actin monomer binding (GO:0003785)|ATP binding (GO:0005524)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)	p.L303F(1)		endometrium(2)|large_intestine(6)|lung(4)|prostate(1)|stomach(1)	14	all_cancers(12;0.00125)	Lung NSC(34;0.0804)|all_lung(34;0.181)		GBM - Glioblastoma multiforme(48;0.0474)		AGTCTGCAGTCAACTCATCCC	0.383																																						ENST00000395510.2																			1	Substitution - Missense(1)	p.L303F(1)	prostate(1)	endometrium(2)|large_intestine(6)|lung(4)|prostate(1)|stomach(1)	14						c.(907-909)ttG>ttT		twinfilin actin-binding protein 1							101	96	98					12																	44189532		2203	4300	6503	SO:0001583	missense	5756					actin cytoskeleton|cytoplasm	actin binding|protein tyrosine kinase activity	g.chr12:44189532C>A	U02680	CCDS31780.1, CCDS31780.2, CCDS55818.1	12q12	2013-04-25	2013-04-25	2006-11-13					9620	protein-coding gene	gene with protein product		610932	"protein tyrosine kinase 9", "PTK9 protein tyrosine kinase 9", "twinfilin, actin-binding protein, homolog 1 (Drosophila)"	PTK9		7507208	Standard	NM_002822		Approved	A6	uc001rob.3	Q12792		ENST00000395510.2:c.909G>T	12.37:g.44189532C>A	ENSP00000378886:p.Leu303Phe					TWF1_ENST00000548315.1_Missense_Mutation_p.L310F|TWF1_ENST00000325127.4_Missense_Mutation_p.L337F|TWF1_ENST00000552521.1_Missense_Mutation_p.L205F	p.L303F	NM_001242397.1|NM_002822.4	NP_001229326.1|NP_002813.3	Q12792	TWF1_HUMAN		GBM - Glioblastoma multiforme(48;0.0474)	9	1038	-	all_cancers(12;0.00125)	Lung NSC(34;0.0804)|all_lung(34;0.181)	303			ADF-H 2.		A8K5A8|B3KXS6|B4DLX9|Q59G07|Q5U0B1|Q6FHJ1|Q6FHL6|Q6NUK9|Q86XL6|Q8TCD3	Missense_Mutation	SNP	ENST00000395510.2	37	c.909G>T	CCDS31780.2	.	.	.	.	.	.	.	.	.	.	C	15.82	2.946387	0.53079	.	.	ENSG00000151239	ENST00000552521;ENST00000395510;ENST00000325127;ENST00000548315	T;T;T;T	0.38887	1.11;1.11;1.11;1.11	5.38	4.47	0.54385	Actin-binding, cofilin/tropomyosin type (2);	0.000000	0.85682	D	0.000000	T	0.65428	0.2690	M	0.83012	2.62	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.997;0.998	T	0.69266	-0.5190	10	0.66056	D	0.02	-20.1605	12.6526	0.56770	0.0:0.8725:0.0:0.1275	.	310;303	Q12792-3;Q12792	.;TWF1_HUMAN	F	205;303;337;310	ENSP00000448750:L205F;ENSP00000378886:L303F;ENSP00000321058:L337F;ENSP00000449428:L310F	ENSP00000321058:L337F	L	-	3	2	TWF1	42475799	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	1.362000	0.34148	2.683000	0.91414	0.561000	0.74099	TTG		0.383	TWF1-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403956.1	NM_002822		38	59	1	0	8.69298e-16	0.006999	1.00656e-15	38	59					A	44189532	C	A	44189532	3	1	179	1	0	0	0	0	1	0	0	0	16778	825	29	5	147	5	TWF1	12	44189532	Missense_Mutation	SNP	C	TCGA-G9-6496-01A-11D-1786-08		44189532	89662363	30	8428											
TPTE2	93492	broad.mit.edu	37	chr13	20049751	20049751	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acaattgaatgcacaattttCttaatcttgctgctgcaaaa	14	14	5	8	0	2	1	0	1	2	0	2	1	2	1	0	0	4	4	0	0	6	5			TCGA-G9-6496-01A-11D-1786-08	TCGA-G9-6496-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	259386a0-60a4-4990-a3c3-36b9bab40927	ecd9e666-76cf-4984-a6b7-01764f387579	g.chr13:20049751C>A	ENST00000400230.2	-	5	236	c.192G>T	c.(190-192)aaG>aaT	p.K64N	TPTE2_ENST00000400103.2_Intron|TPTE2_ENST00000390680.2_Intron|TPTE2_ENST00000255310.6_Intron|TPTE2_ENST00000382975.4_Missense_Mutation_p.K64N|TPTE2_ENST00000382977.4_Missense_Mutation_p.K64N|TPTE2_ENST00000457266.2_Intron|TPTE2_ENST00000382978.1_Missense_Mutation_p.K64N			Q6XPS3	TPTE2_HUMAN	transmembrane phosphoinositide 3-phosphatase and tensin homolog 2	64					phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	ion channel activity (GO:0005216)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.K64N(1)		NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)		GCACAATTTTCTTAATCTTGC	0.299																																						ENST00000400230.2																			1	Substitution - Missense(1)	p.K64N(1)	prostate(1)	NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						c.(190-192)aaG>aaT		transmembrane phosphoinositide 3-phosphatase and tensin homolog 2							27	28	28					13																	20049751		2199	4293	6492	SO:0001583	missense	93492					endoplasmic reticulum membrane|integral to membrane	ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr13:20049751C>A	AJ421032	CCDS9285.1, CCDS45013.1, CCDS45014.1	13q12.11	2012-12-10			ENSG00000132958	ENSG00000132958		"Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"	17299	protein-coding gene	gene with protein product		606791				11716755, 12717346, 15057823	Standard	NM_130785		Approved	TPIP	uc001umd.3	Q6XPS3	OTTHUMG00000016493	ENST00000400230.2:c.192G>T	13.37:g.20049751C>A	ENSP00000383089:p.Lys64Asn					TPTE2_ENST00000382975.4_Missense_Mutation_p.K64N|TPTE2_ENST00000390680.2_Intron|TPTE2_ENST00000457266.2_Intron|TPTE2_ENST00000382978.1_Missense_Mutation_p.K64N|TPTE2_ENST00000255310.6_Intron|TPTE2_ENST00000382977.4_Missense_Mutation_p.K64N|TPTE2_ENST00000400103.2_Intron	p.K64N			Q6XPS3	TPTE2_HUMAN		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)	5	236	-		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)	64					A1A4X0|A1A4X1|A8MX64|B1AQ16|B4DWZ2|Q5VUH2|Q8WWL4|Q8WWL5	Missense_Mutation	SNP	ENST00000400230.2	37	c.192G>T	CCDS45014.1	.	.	.	.	.	.	.	.	.	.	c	11.36	1.616070	0.28801	.	.	ENSG00000132958	ENST00000382978;ENST00000400230;ENST00000382977;ENST00000382975;ENST00000343548	D;D;D;D	0.96168	-3.93;-3.58;-3.58;-3.93	2.39	1.54	0.23209	.	0.463681	0.21047	U	0.081064	D	0.94801	0.8321	L	0.54323	1.7	0.09310	N	0.999999	D	0.71674	0.998	P	0.59546	0.859	D	0.87759	0.2597	9	.	.	.	-5.1118	5.0849	0.14676	0.0:0.8267:0.0:0.1733	.	64	Q6XPS3	TPTE2_HUMAN	N	64	ENSP00000372438:K64N;ENSP00000383089:K64N;ENSP00000372437:K64N;ENSP00000372435:K64N	.	K	-	3	2	TPTE2	18947751	0.154000	0.22792	0.009000	0.14445	0.002000	0.02628	0.236000	0.17967	0.571000	0.29365	-0.373000	0.07131	AAG		0.299	TPTE2-205	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_199254		20	33	1	0	2.27731e-05	0.012319	2.50504e-05	20	33					A	20049751	C	A	20049751	3	1	179	1	0	0	0	0	1	0	0	0	16428	912	32	5	1440	5	TPTE2	13	20049751	Missense_Mutation	SNP	C	TCGA-G9-6496-01A-11D-1786-08		20049751	95120127	31	8429											
PPP1R13B	23368	broad.mit.edu	37	chr14	104205266	104205268	+	In_Frame_Del	DEL	GAC	GAC	-																															gatcgaactctccttccagaGacgcgtctaggagcagtgcc																								rs369723625		TCGA-G9-6496-01A-11D-1786-08	TCGA-G9-6496-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	259386a0-60a4-4990-a3c3-36b9bab40927	ecd9e666-76cf-4984-a6b7-01764f387579	g.chr14:104205266_104205268delGAC	ENST00000202556.9	-	13	2967_2969	c.2685_2687delGTC	c.(2683-2688)gcgtct>gct	p.S896del	PPP1R13B_ENST00000555391.1_5'UTR|PPP1R13B_ENST00000423488.2_In_Frame_Del_p.S315del	NM_015316.2	NP_056131.2	Q96KQ4	ASPP1_HUMAN	protein phosphatase 1, regulatory subunit 13B	896					intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|negative regulation of cell cycle (GO:0045786)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				endometrium(6)|kidney(2)|large_intestine(7)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)	33		all_cancers(154;0.173)|all_epithelial(191;0.131)|Melanoma(154;0.155)				TCCTTCCAGAGACGCGTCTAGGA	0.626																																						ENST00000202556.9																			0				endometrium(6)|kidney(2)|large_intestine(7)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)	33						c.(2683-2688)gct>gc		protein phosphatase 1, regulatory subunit 13B																																				SO:0001651	inframe_deletion	23368				apoptosis|induction of apoptosis|negative regulation of cell cycle	cytoplasm|nucleus|plasma membrane	protein binding	g.chr14:104205266_104205268delGAC	AB018314	CCDS41997.1	14q32.33	2013-01-10	2011-10-04		ENSG00000088808	ENSG00000088808		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "Ankyrin repeat domain containing"	14950	protein-coding gene	gene with protein product		606455	"protein phosphatase 1, regulatory (inhibitor) subunit 13B"			9872452	Standard	NM_015316		Approved	p53BP2-like, KIAA0771, p85, ASPP1	uc001yof.1	Q96KQ4	OTTHUMG00000171647	ENST00000202556.9:c.2685_2687delGTC	14.37:g.104205266_104205268delGAC	ENSP00000202556:p.Ser896del					PPP1R13B_ENST00000555391.1_5'UTR|PPP1R13B_ENST00000423488.2_In_Frame_Del_p.AS314del	p.AS895del	NM_015316.2	NP_056131.2	Q96KQ4	ASPP1_HUMAN			13	2967_2969	-		all_cancers(154;0.173)|all_epithelial(191;0.131)|Melanoma(154;0.155)	895					B2RMX5|O94870	In_Frame_Del	DEL	ENST00000202556.9	37	c.2685_2687delGTC	CCDS41997.1																																																																																				0.626	PPP1R13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414591.1	NM_015316		40	88						40	88	---	---	---	---	-	104205268	GAC	-	104205266	7	5	179	1	0	1	0	1	0	0	0	0	12357	942	33	0	605	0	PPP1R13B	14	104205266	In_Frame_Del	DEL	GAC	TCGA-G9-6496-01A-11D-1786-08		104205266	3144274	32	8430											
ZZEF1	23140	broad.mit.edu	37	chr17	3980274	3980274	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctcatgcttgccagaaacTggcccacatctaccgaaaca	12	8	6	15	1	2	1	1	0	2	1	3	2	2	1	3	1	5	1	3	1	3	2			TCGA-G9-6496-01A-11D-1786-08	TCGA-G9-6496-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	259386a0-60a4-4990-a3c3-36b9bab40927	ecd9e666-76cf-4984-a6b7-01764f387579	g.chr17:3980274T>G	ENST00000381638.2	-	20	3123	c.2999A>C	c.(2998-3000)cAg>cCg	p.Q1000P	ZZEF1_ENST00000574474.1_5'UTR	NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN	zinc finger, ZZ-type with EF-hand domain 1	1000							calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)	p.Q1000P(1)		central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						TGCCAGAAACTGGCCCACATC	0.363																																						ENST00000381638.2																			1	Substitution - Missense(1)	p.Q1000P(1)	prostate(1)	central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						c.(2998-3000)cAg>cCg		zinc finger, ZZ-type with EF-hand domain 1							51	50	50					17																	3980274		2203	4300	6503	SO:0001583	missense	23140						calcium ion binding|zinc ion binding	g.chr17:3980274T>G	BC035319	CCDS11043.1	17p13.3	2013-01-10	2004-11-03		ENSG00000074755	ENSG00000074755		"Zinc fingers, ZZ-type", "EF-hand domain containing"	29027	protein-coding gene	gene with protein product			"zinc finger, ZZ-type with EF hand domain 1"			9455477	Standard	XM_005256560		Approved	KIAA0399, ZZZ4, FLJ10821	uc002fxe.3	O43149	OTTHUMG00000090741	ENST00000381638.2:c.2999A>C	17.37:g.3980274T>G	ENSP00000371051:p.Gln1000Pro					ZZEF1_ENST00000574474.1_5'UTR	p.Q1000P	NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN			20	3123	-			1000					A7MBM5|Q6NXG0|Q6ZRA1|Q6ZSF4|Q9NVB9	Missense_Mutation	SNP	ENST00000381638.2	37	c.2999A>C	CCDS11043.1	.	.	.	.	.	.	.	.	.	.	T	17.23	3.336564	0.60963	.	.	ENSG00000074755	ENST00000381638	T	0.23147	1.92	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	T	0.33585	0.0868	L	0.29908	0.895	0.54753	D	0.99998	D;D	0.69078	0.996;0.997	P;P	0.61275	0.886;0.824	T	0.06110	-1.0845	10	0.49607	T	0.09	-15.5697	10.9776	0.47475	0.1393:0.0:0.0:0.8607	.	1001;1000	O43149-3;O43149	.;ZZEF1_HUMAN	P	1000	ENSP00000371051:Q1000P	ENSP00000371051:Q1000P	Q	-	2	0	ZZEF1	3927023	1.000000	0.71417	0.996000	0.52242	0.464000	0.32679	4.303000	0.59098	2.155000	0.67459	0.459000	0.35465	CAG		0.363	ZZEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207480.1	NM_015113		18	40	0	0	0	0.00499	0	18	40					G	3980274	T	G	3980274	3	3	179	1	0	0	0	0	1	0	0	0	18252	1580	55	5	6030	5	ZZEF1	17	3980274	Missense_Mutation	SNP	T	TCGA-G9-6496-01A-11D-1786-08		3980274	77214936	33	8431											
ACAP1	9744	broad.mit.edu	37	chr17	7250419	7250419	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gaatggccaggggaagggagCctgggggagtcgggcacgtg	8	4	22	7	2	0	0	0	0	0	0	1	4	0	3	2	7	1	1	2	7	2	0			TCGA-G9-6496-01A-11D-1786-08	TCGA-G9-6496-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	259386a0-60a4-4990-a3c3-36b9bab40927	ecd9e666-76cf-4984-a6b7-01764f387579	g.chr17:7250419C>T	ENST00000158762.3	+	14	1407	c.1201C>T	c.(1201-1203)Cct>Tct	p.P401S		NM_014716.3	NP_055531.1	Q15027	ACAP1_HUMAN	ArfGAP with coiled-coil, ankyrin repeat and PH domains 1	401					protein transport (GO:0015031)|regulation of ARF GTPase activity (GO:0032312)	endosome (GO:0005768)|membrane (GO:0016020)	ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)	p.P401S(1)		NS(1)|breast(5)|cervix(3)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|prostate(3)|skin(1)|urinary_tract(1)	33						GGGAAGGGAGCCTGGGGGAGT	0.677																																						ENST00000158762.3																			1	Substitution - Missense(1)	p.P401S(1)	prostate(1)	NS(1)|breast(5)|cervix(3)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|prostate(3)|skin(1)|urinary_tract(1)	33						c.(1201-1203)Cct>Tct		ArfGAP with coiled-coil, ankyrin repeat and PH domains 1							34	38	37					17																	7250419		2203	4299	6502	SO:0001583	missense	9744				intracellular signal transduction|lipid metabolic process|protein transport|regulation of ARF GTPase activity		ARF GTPase activator activity|phospholipase C activity|protein binding|zinc ion binding	g.chr17:7250419C>T	D30758	CCDS11101.1	17p13.1	2013-01-11	2008-09-22	2008-09-22	ENSG00000072818	ENSG00000072818		"ADP-ribosylation factor GTPase activating proteins", "Pleckstrin homology (PH) domain containing", "Ankyrin repeat domain containing"	16467	protein-coding gene	gene with protein product		607763	"centaurin, beta 1"	CENTB1		11050434, 11062263	Standard	NM_014716		Approved	KIAA0050	uc002ggd.2	Q15027	OTTHUMG00000102199	ENST00000158762.3:c.1201C>T	17.37:g.7250419C>T	ENSP00000158762:p.Pro401Ser						p.P401S	NM_014716.3	NP_055531.1	Q15027	ACAP1_HUMAN			14	1407	+			401					Q53XN9	Missense_Mutation	SNP	ENST00000158762.3	37	c.1201C>T	CCDS11101.1	.	.	.	.	.	.	.	.	.	.	C	2.428	-0.331418	0.05314	.	.	ENSG00000072818	ENST00000158762	T	0.73152	-0.72	4.77	-0.754	0.11065	.	0.593042	0.16927	N	0.193828	T	0.41396	0.1157	N	0.08118	0	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.17048	-1.0382	10	0.08837	T	0.75	.	8.0133	0.30365	0.0:0.4683:0.0:0.5317	.	401	Q15027	ACAP1_HUMAN	S	401	ENSP00000158762:P401S	ENSP00000158762:P401S	P	+	1	0	ACAP1	7191143	0.000000	0.05858	0.776000	0.31678	0.625000	0.37756	-0.512000	0.06313	-0.020000	0.14032	0.462000	0.41574	CCT		0.677	ACAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000220049.4	NM_014716		7	40	0	0	0	0.001984	0	7	40					T	7250419	C	T	7250419	3	4	179	1	0	0	0	0	1	0	0	0	118	739	26	3	1255	3	ACAP1	17	7250419	Missense_Mutation	SNP	C	TCGA-G9-6496-01A-11D-1786-08	3270145	7250419	73944791	34	8432											
MUC16	94025	broad.mit.edu	37	chr19	9061392	9061392	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gagttgatgtggaaacacttGtattccccagagtggaggtg	10	11	14	6	0	0	2	0	1	0	1	1	5	1	4	2	3	1	2	2	3	2	4			TCGA-G9-6496-01A-11D-1786-08	TCGA-G9-6496-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	259386a0-60a4-4990-a3c3-36b9bab40927	ecd9e666-76cf-4984-a6b7-01764f387579	g.chr19:9061392G>C	ENST00000397910.4	-	3	26257	c.26054C>G	c.(26053-26055)aCa>aGa	p.T8685R		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	8687	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)		p.T8685R(2)|p.T4318R(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GGAAACACTTGTATTCCCCAG	0.458																																						ENST00000397910.4																			3	Substitution - Missense(3)	p.T8685R(2)|p.T4318R(1)	prostate(3)	NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(26053-26055)aCa>aGa		mucin 16, cell surface associated							105	98	100					19																	9061392		1946	4149	6095	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9061392G>C	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.26054C>G	19.37:g.9061392G>C	ENSP00000381008:p.Thr8685Arg						p.T8685R	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			3	26257	-			8687			Ser-rich.|Thr-rich.		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.26054C>G	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	N	2.783	-0.252975	0.05829	.	.	ENSG00000181143	ENST00000397910	T	0.35048	1.33	2.44	0.123	0.14709	.	.	.	.	.	T	0.27205	0.0667	L	0.32530	0.975	.	.	.	P	0.52316	0.952	P	0.47015	0.534	T	0.28964	-1.0027	8	0.87932	D	0	.	2.438	0.04487	0.1859:0.0:0.5248:0.2893	.	8685	B5ME49	.	R	8685	ENSP00000381008:T8685R	ENSP00000381008:T8685R	T	-	2	0	MUC16	8922392	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.572000	0.05881	0.090000	0.17273	-0.553000	0.04205	ACA		0.458	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		35	45	0	0	0	0.017118	0	35	45					C	9061392	G	C	9061392	3	2	179	1	0	0	0	0	1	0	0	0	9973	1377	48	5	17797	5	MUC16	19	9061392	Missense_Mutation	SNP	G	TCGA-G9-6496-01A-11D-1786-08		9061392	50067591	35	8433											
MAP3K10	4294	broad.mit.edu	37	chr19	40698519	40698519	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggtcgccgggtgccacctcAcgtgctggtcaactgggctg	5	8	15	13	3	2	0	2	0	0	0	3	0	2	0	3	4	3	2	3	4	1	0			TCGA-G9-6496-01A-11D-1786-08	TCGA-G9-6496-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	259386a0-60a4-4990-a3c3-36b9bab40927	ecd9e666-76cf-4984-a6b7-01764f387579	g.chr19:40698519A>G	ENST00000253055.3	+	1	869	c.581A>G	c.(580-582)cAc>cGc	p.H194R	MAP3K10_ENST00000593906.1_Intron	NM_002446.3	NP_002437.2	Q02779	M3K10_HUMAN	mitogen-activated protein kinase kinase kinase 10	194	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of JNKK activity (GO:0007256)|activation of JUN kinase activity (GO:0007257)|apoptotic process (GO:0006915)|JNK cascade (GO:0007254)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of apoptotic process (GO:0043065)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|protein autophosphorylation (GO:0046777)|signal transduction (GO:0007165)|smoothened signaling pathway (GO:0007224)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|bHLH transcription factor binding (GO:0043425)|JUN kinase kinase kinase activity (GO:0004706)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transcription corepressor activity (GO:0003714)	p.H194R(2)		NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	24						GTGCCACCTCACGTGCTGGTC	0.642																																						ENST00000253055.3																			2	Substitution - Missense(2)	p.H194R(2)	prostate(2)	NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	24						c.(580-582)cAc>cGc		mitogen-activated protein kinase kinase kinase 10							46	41	43					19																	40698519		2203	4300	6503	SO:0001583	missense	4294				activation of JUN kinase activity|induction of apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of JNK cascade|protein autophosphorylation|smoothened signaling pathway	cytoplasm	ATP binding|bHLH transcription factor binding|JUN kinase kinase kinase activity|protein homodimerization activity|transcription corepressor activity	g.chr19:40698519A>G	X90846	CCDS12549.1	19q13.2	2014-08-12			ENSG00000130758		2.7.11.1	"Mitogen-activated protein kinase cascade / Kinase kinase kinases"	6849	protein-coding gene	gene with protein product	"MKN28 kinase", "mixed lineage kinase 2", "MKN28 derived nonreceptor_type serine/threonine kinase"	600137		MLK2		8536694, 7731697	Standard	NM_002446		Approved	MST, MEKK10	uc002ona.3	Q02779	OTTHUMG00000182591	ENST00000253055.3:c.581A>G	19.37:g.40698519A>G	ENSP00000253055:p.His194Arg					MAP3K10_ENST00000593906.1_Intron	p.H194R	NM_002446.3	NP_002437.2	Q02779	M3K10_HUMAN			1	869	+			194			Protein kinase.		Q12761|Q14871	Missense_Mutation	SNP	ENST00000253055.3	37	c.581A>G	CCDS12549.1	.	.	.	.	.	.	.	.	.	.	A	12.74	2.027304	0.35797	.	.	ENSG00000130758	ENST00000253055	D	0.82081	-1.57	4.93	4.93	0.64822	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.125015	0.51477	D	0.000083	T	0.62380	0.2423	N	0.02721	-0.515	0.36493	D	0.868567	B	0.10296	0.003	B	0.18263	0.021	T	0.62671	-0.6805	10	0.14252	T	0.57	.	12.5767	0.56367	1.0:0.0:0.0:0.0	.	194	Q02779	M3K10_HUMAN	R	194	ENSP00000253055:H194R	ENSP00000253055:H194R	H	+	2	0	MAP3K10	45390359	0.998000	0.40836	0.999000	0.59377	0.996000	0.88848	3.478000	0.53158	2.074000	0.62210	0.459000	0.35465	CAC		0.642	MAP3K10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462552.1	NM_002446		10	17	0	0	0	0.010729	0	10	17					G	40698519	A	G	40698519	3	3	179	1	0	0	0	0	1	0	0	0	9244	159	6	4	583	4	MAP3K10	19	40698519	Missense_Mutation	SNP	A	TCGA-G9-6496-01A-11D-1786-08	31637127	40698519	18430464	36	8434											
C19orf47	126526	broad.mit.edu	37	chr19	40832339	40832339	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctccatctcagcagtgaccCggcgccgcttggcaggaaca	8	6	11	16	3	1	1	1	1	1	0	3	2	2	2	4	3	2	3	4	3	1	1	rs534758453		TCGA-G9-6496-01A-11D-1786-08	TCGA-G9-6496-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	259386a0-60a4-4990-a3c3-36b9bab40927	ecd9e666-76cf-4984-a6b7-01764f387579	g.chr19:40832339C>T	ENST00000582783.1	-	7	617	c.605G>A	c.(604-606)cGg>cAg	p.R202Q	C19orf47_ENST00000392035.2_Missense_Mutation_p.R135Q	NM_001256440.1	NP_001243369.1	Q8N9M1	CS047_HUMAN	chromosome 19 open reading frame 47	202						nucleus (GO:0005634)		p.R135Q(1)		endometrium(5)|kidney(2)|lung(7)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	20			Lung(22;0.000636)			AGCAGTGACCCGGCGCCGCTT	0.627																																						ENST00000582783.1																			1	Substitution - Missense(1)	p.R135Q(1)	prostate(1)	endometrium(5)|kidney(2)|lung(7)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	20						c.(604-606)cGg>cAg		chromosome 19 open reading frame 47							87	68	75					19																	40832339		2203	4300	6503	SO:0001583	missense	126526							g.chr19:40832339C>T	AL834131	CCDS58662.1	19q13.2	2012-07-20			ENSG00000160392	ENSG00000160392			26723	protein-coding gene	gene with protein product						12477932	Standard	NM_001256440		Approved	FLJ36888	uc002oni.5	Q8N9M1	OTTHUMG00000179028	ENST00000582783.1:c.605G>A	19.37:g.40832339C>T	ENSP00000463159:p.Arg202Gln					C19orf47_ENST00000392035.2_Missense_Mutation_p.R135Q	p.R202Q	NM_001256440.1	NP_001243369.1	Q8N9M1	CS047_HUMAN	Lung(22;0.000636)		7	617	-			202					Q8IZ33|Q8N0V9	Missense_Mutation	SNP	ENST00000582783.1	37	c.605G>A	CCDS58662.1	.	.	.	.	.	.	.	.	.	.	C	36	5.908725	0.97093	.	.	ENSG00000160392	ENST00000357884;ENST00000392035	D	0.99532	-6.1	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	D	0.99013	0.9663	M	0.80746	2.51	0.80722	D	1	D	0.53885	0.963	B	0.41723	0.365	D	0.99940	1.1397	10	0.29301	T	0.29	0.0	18.2475	0.89991	0.0:1.0:0.0:0.0	.	202	Q8N9M1	CS047_HUMAN	Q	202;135	ENSP00000375889:R135Q	ENSP00000350556:R202Q	R	-	2	0	C19orf47	45524179	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.065000	0.76727	2.618000	0.88619	0.462000	0.41574	CGG		0.627	C19orf47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444488.1	NM_178830		11	26	0	0	0	0.010729	0	11	26					T	40832339	C	T	40832339	3	4	179	1	0	0	0	0	1	0	0	0	1930	652	23	2	675	2	C19orf47	19	40832339	Missense_Mutation	SNP	C	TCGA-G9-6496-01A-11D-1786-08	133820	40832339	18296644	37	8435											
SIRPB1	10326	broad.mit.edu	37	chr20	1600530	1600530	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctcacctgtgagtctccccaGcagtagcgtcatcagcagga	9	8	10	14	1	4	1	3	1	1	0	5	2	4	2	3	1	3	3	3	1	1	1			TCGA-G9-6496-01A-11D-1786-08	TCGA-G9-6496-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	259386a0-60a4-4990-a3c3-36b9bab40927	ecd9e666-76cf-4984-a6b7-01764f387579	g.chr20:1600530G>A	ENST00000381605.4	-	1	125	c.61C>T	c.(61-63)Ctg>Ttg	p.L21L	SIRPB1_ENST00000381596.1_5'UTR|SIRPB1_ENST00000568365.1_Silent_p.L21L|RP4-576H24.4_ENST00000564763.1_Silent_p.L21L|SIRPB1_ENST00000381603.3_Silent_p.L21L|SIRPB1_ENST00000279477.7_Silent_p.L21L	NM_006065.3	NP_006056.2	O00241	SIRB1_HUMAN	signal-regulatory protein beta 1	21					cell surface receptor signaling pathway (GO:0007166)|innate immune response (GO:0045087)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)		p.L21L(1)		central_nervous_system(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	31						AGTCTCCCCAGCAGTAGCGTC	0.562																																						ENST00000381605.4																			1	Substitution - coding silent(1)	p.L21L(1)	prostate(1)	central_nervous_system(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	31						c.(61-63)Ctg>Ttg		signal-regulatory protein beta 1							95	85	89					20																	1600530		2203	4300	6503	SO:0001819	synonymous_variant	10326				cell junction assembly|cell surface receptor linked signaling pathway	integral to plasma membrane	protein binding	g.chr20:1600530G>A	Y10376	CCDS13019.1, CCDS42850.1, CCDS46571.1	20p13	2013-01-11			ENSG00000101307	ENSG00000101307		"Signal-regulatory proteins", "CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C1-set domain containing"	15928	protein-coding gene	gene with protein product		603889				9062191, 16339511	Standard	NM_001083910		Approved	SIRP-BETA-1, CD172b	uc010gai.3	O00241	OTTHUMG00000031676	ENST00000381605.4:c.61C>T	20.37:g.1600530G>A						SIRPB1_ENST00000568365.1_Silent_p.L21L|SIRPB1_ENST00000279477.7_Silent_p.L21L|RP4-576H24.4_ENST00000564763.1_Silent_p.L21L|SIRPB1_ENST00000381596.1_5'UTR|SIRPB1_ENST00000381603.3_Silent_p.L21L	p.L21L	NM_006065.3	NP_006056.2	O00241	SIRB1_HUMAN			1	125	-			21					A6NLM2|B2R8V0|Q5TFQ9|Q5TFR0|Q8TB12|Q9H1U5|Q9Y4V0	Silent	SNP	ENST00000381605.4	37	c.61C>T	CCDS13019.1																																																																																				0.562	SIRPB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000077555.2	NM_006065		28	41	0	0	0	0.007291	0	28	41					A	1600530	G	A	1600530	2	1	179	1	0	0	0	0	0	0	0	1	14333	962	34	3		3	SIRPB1	20	1600530	Silent	SNP	G	TCGA-G9-6496-01A-11D-1786-08		1600530	61424990	38	8436											
ATRX	546	broad.mit.edu	37	chrX	76891438	76891438	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggggtttcaatttgataaccAtatttctatgaacctgcact	11	15	7	8	0	2	2	1	2	1	0	2	2	2	2	2	2	3	2	2	2	5	6			TCGA-G9-6496-01A-11D-1786-08	TCGA-G9-6496-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	259386a0-60a4-4990-a3c3-36b9bab40927	ecd9e666-76cf-4984-a6b7-01764f387579	g.chrX:76891438A>G	ENST00000373344.5	-	16	4881	c.4667T>C	c.(4666-4668)aTg>aCg	p.M1556T	ATRX_ENST00000395603.3_Missense_Mutation_p.M1518T|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1556					ATP catabolic process (GO:0006200)|cellular response to hydroxyurea (GO:0072711)|chromatin remodeling (GO:0006338)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA methylation (GO:0006306)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication-independent nucleosome assembly (GO:0006336)|forebrain development (GO:0030900)|negative regulation of telomeric RNA transcription from RNA pol II promoter (GO:1901581)|nucleosome assembly (GO:0006334)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|replication fork processing (GO:0031297)|seminiferous tubule development (GO:0072520)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear heterochromatin (GO:0005720)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF superfamily-type complex (GO:0070603)|telomeric heterochromatin (GO:0031933)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|helicase activity (GO:0004386)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)	p.M1556T(2)|p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						TTTGATAACCATATTTCTATG	0.338			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome																															ENST00000373344.5				Rec	yes		X	Xq21.1	546	"Mis, F, N"	alpha thalassemia/mental retardation syndrome X-linked	yes	ATR-X (alpha thalassemia/mental retardation) syndrome	E			"Pancreatic neuroendocrine tumors, paediatric GBM"		3	Substitution - Missense(2)|Unknown(1)	p.M1556T(2)|p.?(1)	prostate(2)|bone(1)	bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						c.(4666-4668)aTg>aCg		alpha thalassemia/mental retardation syndrome X-linked	Phosphatidylserine(DB00144)						79	65	70					X																	76891438		2203	4295	6498	SO:0001583	missense	546				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	g.chrX:76891438A>G	U72937	CCDS14434.1, CCDS14435.1	Xq21.1	2014-06-17	2010-06-24		ENSG00000085224	ENSG00000085224			886	protein-coding gene	gene with protein product	"RAD54 homolog (S. cerevisiae)"	300032	"alpha thalassemia/mental retardation syndrome X-linked (RAD54 (S. cerevisiae) homolog)", "Juberg-Marsidi syndrome"	RAD54, JMS		7874112, 1415255, 8503439, 8630485	Standard	NM_000489		Approved	XH2, XNP	uc004ecp.4	P46100	OTTHUMG00000022686	ENST00000373344.5:c.4667T>C	X.37:g.76891438A>G	ENSP00000362441:p.Met1556Thr					ATRX_ENST00000395603.3_Missense_Mutation_p.M1518T|ATRX_ENST00000480283.1_5'UTR	p.M1556T	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN			16	4881	-			1556					D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Missense_Mutation	SNP	ENST00000373344.5	37	c.4667T>C	CCDS14434.1	.	.	.	.	.	.	.	.	.	.	A	15.19	2.759941	0.49468	.	.	ENSG00000085224	ENST00000373344;ENST00000395603	T;T	0.23552	1.9;1.9	5.46	5.46	0.80206	DEAD-like helicase (1);	0.139619	0.49916	U	0.000133	T	0.28995	0.0720	L	0.36672	1.1	0.80722	D	1	P;P	0.51351	0.944;0.918	P;B	0.47402	0.546;0.428	T	0.03807	-1.1002	10	0.87932	D	0	-8.0909	14.5883	0.68344	1.0:0.0:0.0:0.0	.	1518;1556	P46100-4;P46100	.;ATRX_HUMAN	T	1556;1518	ENSP00000362441:M1556T;ENSP00000378967:M1518T	ENSP00000362441:M1556T	M	-	2	0	ATRX	76778094	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.932000	0.92897	1.826000	0.53198	0.486000	0.48141	ATG		0.338	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489		18	5	0	0	0	0.00499	0	18	5					G	76891438	A	G	76891438	3	3	179	1	0	0	0	0	1	0	0	0	1208	217	8	4	2891	4	ATRX	23	76891438	Missense_Mutation	SNP	A	TCGA-G9-6496-01A-11D-1786-08		76891438	78379122	39	8437											
GLIS1	148979	broad.mit.edu	37	chr1	53990499	53990499	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aatgggccttgacgtgcttgCggagggagctggggtctgtg	5	10	19	7	2	1	1	0	1	1	0	1	3	1	3	1	5	3	2	1	5	1	2			TCGA-G9-6498-01A-12D-A30X-08	TCGA-G9-6498-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e807a5d4-8642-4757-a1e6-9fc58e6f5d65	e3e7e02b-0f70-4574-8d1c-63fd5b15d3bd	g.chr1:53990499C>T	ENST00000312233.2	-	5	1585	c.1019G>A	c.(1018-1020)cGc>cAc	p.R340H		NM_147193.2	NP_671726.2			GLIS family zinc finger 1											endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|skin(3)|urinary_tract(4)	24						GACGTGCTTGCGGAGGGAGCT	0.637																																						ENST00000312233.2																			0				endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|skin(3)|urinary_tract(4)	24						c.(1018-1020)cGc>cAc		GLIS family zinc finger 1							199	160	173					1																	53990499		2203	4300	6503	SO:0001583	missense	148979				negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding	g.chr1:53990499C>T	AK093474	CCDS582.1	1p32.3	2008-02-05			ENSG00000174332	ENSG00000174332		"Zinc fingers, C2H2-type"	29525	protein-coding gene	gene with protein product		610378				12042312, 14500813	Standard	NM_147193		Approved	FLJ36155	uc001cvr.1	Q8NBF1	OTTHUMG00000008079	ENST00000312233.2:c.1019G>A	1.37:g.53990499C>T	ENSP00000309653:p.Arg340His						p.R340H	NM_147193.2	NP_671726.2	Q8NBF1	GLIS1_HUMAN			5	1585	-			340						Missense_Mutation	SNP	ENST00000312233.2	37	c.1019G>A	CCDS582.1	.	.	.	.	.	.	.	.	.	.	C	24.5	4.534887	0.85812	.	.	ENSG00000174332	ENST00000312233	T	0.35789	1.29	4.2	4.2	0.49525	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.139499	0.32488	N	0.006033	T	0.54095	0.1837	L	0.45698	1.435	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.59757	-0.7394	10	0.87932	D	0	.	16.9142	0.86147	0.0:1.0:0.0:0.0	.	340	Q8NBF1	GLIS1_HUMAN	H	340	ENSP00000309653:R340H	ENSP00000309653:R340H	R	-	2	0	GLIS1	53763087	1.000000	0.71417	1.000000	0.80357	0.668000	0.39293	7.810000	0.86072	2.074000	0.62210	0.313000	0.20887	CGC		0.637	GLIS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022109.1	NM_147193		4	172	0	0	0	1	0	4	172					T	53990499	C	T	53990499	3	4	180	1	0	0	0	0	1	0	0	0	6445	768	27	1	867	1	GLIS1	1	53990499	Missense_Mutation	SNP	C	TCGA-G9-6498-01A-12D-A30X-08		53990499	195260122	1	8438											
USH2A	7399	broad.mit.edu	37	chr1	215960060	215960060	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtatgaatggtttcttcggCagatgaacacatttcttcaa	11	15	8	7	1	3	3	1	2	2	1	4	3	3	3	0	2	1	3	0	2	4	5			TCGA-G9-6498-01A-12D-A30X-08	TCGA-G9-6498-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e807a5d4-8642-4757-a1e6-9fc58e6f5d65	e3e7e02b-0f70-4574-8d1c-63fd5b15d3bd	g.chr1:215960060C>A	ENST00000307340.3	-	52	10725	c.10339G>T	c.(10339-10341)Gcc>Tcc	p.A3447S	USH2A_ENST00000366943.2_Missense_Mutation_p.A3447S	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	3447	Fibronectin type-III 19. {ECO:0000255|PROSITE-ProRule:PRU00316}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		GTTTCTTCGGCAGATGAACAC	0.453										HNSCC(13;0.011)																												ENST00000366943.2																			0				NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527						c.(10339-10341)Gcc>Tcc		Usher syndrome 2A (autosomal recessive, mild)							190	157	168					1																	215960060		2203	4300	6503	SO:0001583	missense	7399				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	g.chr1:215960060C>A	AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"Fibronectin type III domain containing"	12601	protein-coding gene	gene with protein product	"usherin"	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.10339G>T	1.37:g.215960060C>A	ENSP00000305941:p.Ala3447Ser	HNSCC(13;0.011)				USH2A_ENST00000307340.3_Missense_Mutation_p.A3447S	p.A3447S			O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	52	10725	-			3447			Fibronectin type-III 19.		Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	c.10339G>T	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	C	5.795	0.331057	0.10956	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	T;T	0.12672	2.67;2.66	4.88	2.94	0.34122	Fibronectin, type III (3);	0.378699	0.19411	N	0.114922	T	0.09555	0.0235	L	0.39898	1.24	0.09310	N	1	B	0.22346	0.068	B	0.15870	0.014	T	0.39418	-0.9615	10	0.07813	T	0.8	.	9.4423	0.38677	0.1525:0.5527:0.2948:0.0	.	3447	O75445	USH2A_HUMAN	S	3447	ENSP00000305941:A3447S;ENSP00000355910:A3447S	ENSP00000305941:A3447S	A	-	1	0	USH2A	214026683	0.000000	0.05858	0.016000	0.15963	0.954000	0.61252	-0.004000	0.12878	0.415000	0.25817	0.655000	0.94253	GCC		0.453	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		5	76	1	0	1.23904e-05	1	1.23904e-05	5	76					A	215960060	C	A	215960060	3	1	180	1	0	0	0	0	1	0	0	0	17033	710	25	5	5353	5	USH2A	1	215960060	Missense_Mutation	SNP	C	TCGA-G9-6498-01A-12D-A30X-08	161969561	215960060	33290561	2	8439											
LANCL1	10314	broad.mit.edu	37	chr2	211341083	211341083	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cttcggccagggatttgttaTaatcagcataaggattcggg	10	12	12	7	2	1	0	1	0	0	0	3	2	1	2	1	4	1	2	1	4	3	6			TCGA-G9-6498-01A-12D-A30X-08	TCGA-G9-6498-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e807a5d4-8642-4757-a1e6-9fc58e6f5d65	e3e7e02b-0f70-4574-8d1c-63fd5b15d3bd	g.chr2:211341083T>C	ENST00000443314.1	-	1	380	c.38A>G	c.(37-39)tAt>tGt	p.Y13C	LANCL1_ENST00000441020.3_Missense_Mutation_p.Y13C|CPS1_ENST00000430249.2_5'Flank|LANCL1_ENST00000450366.2_Missense_Mutation_p.Y13C|LANCL1_ENST00000233714.4_Missense_Mutation_p.Y13C|LANCL1_ENST00000431941.2_Missense_Mutation_p.Y13C			O43813	LANC1_HUMAN	LanC lantibiotic synthetase component C-like 1 (bacterial)	13					G-protein coupled receptor signaling pathway (GO:0007186)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)	catalytic activity (GO:0003824)|G-protein coupled receptor activity (GO:0004930)|glutathione binding (GO:0043295)|low-density lipoprotein particle receptor binding (GO:0050750)|SH3 domain binding (GO:0017124)|zinc ion binding (GO:0008270)			breast(1)|large_intestine(5)|liver(1)|lung(4)|prostate(1)	12				Epithelial(149;0.00562)|Lung(261;0.0468)|LUSC - Lung squamous cell carcinoma(261;0.0495)|all cancers(144;0.0569)		GGATTTGTTATAATCAGCATA	0.542																																						ENST00000443314.1																			0				breast(1)|large_intestine(5)|liver(1)|lung(4)|prostate(1)	12						c.(37-39)tAt>tGt		LanC lantibiotic synthetase component C-like 1 (bacterial)							53	52	52					2																	211341083		2203	4300	6503	SO:0001583	missense	10314					cytoplasm|integral to plasma membrane|microtubule cytoskeleton|nucleus	catalytic activity|G-protein coupled receptor activity|glutathione binding|low-density lipoprotein particle receptor binding|SH3 domain binding|zinc ion binding	g.chr2:211341083T>C	Y11395	CCDS2392.1	2q33-q35	2008-05-23	2001-12-04		ENSG00000115365	ENSG00000115365			6508	protein-coding gene	gene with protein product		604155	"LanC (bacterial lantibiotic synthetase component C)-like 1"	GPR69A		9512664	Standard	NM_001136574		Approved	p40	uc010zjh.2	O43813	OTTHUMG00000132991	ENST00000443314.1:c.38A>G	2.37:g.211341083T>C	ENSP00000388713:p.Tyr13Cys					LANCL1_ENST00000441020.3_Missense_Mutation_p.Y13C|LANCL1_ENST00000450366.2_Missense_Mutation_p.Y13C|LANCL1_ENST00000431941.2_Missense_Mutation_p.Y13C|LANCL1_ENST00000233714.4_Missense_Mutation_p.Y13C	p.Y13C			O43813	LANC1_HUMAN		Epithelial(149;0.00562)|Lung(261;0.0468)|LUSC - Lung squamous cell carcinoma(261;0.0495)|all cancers(144;0.0569)	1	380	-			13						Missense_Mutation	SNP	ENST00000443314.1	37	c.38A>G	CCDS2392.1	.	.	.	.	.	.	.	.	.	.	T	14.96	2.690536	0.48097	.	.	ENSG00000115365	ENST00000443314;ENST00000441020;ENST00000450366;ENST00000233714;ENST00000431941;ENST00000448951	T;T;T;T;T;T	0.62788	0.26;0.26;0.26;0.26;0.26;0.0	5.58	3.16	0.36331	.	0.177641	0.51477	D	0.000090	T	0.60508	0.2274	M	0.75777	2.31	0.44337	D	0.997224	D	0.58620	0.983	B	0.42361	0.385	T	0.62845	-0.6768	10	0.87932	D	0	.	9.6338	0.39795	0.294:0.0:0.0:0.706	.	13	O43813	LANC1_HUMAN	C	13	ENSP00000388713:Y13C;ENSP00000393323:Y13C;ENSP00000393597:Y13C;ENSP00000233714:Y13C;ENSP00000397646:Y13C;ENSP00000396518:Y13C	ENSP00000233714:Y13C	Y	-	2	0	LANCL1	211049328	1.000000	0.71417	1.000000	0.80357	0.380000	0.30137	1.541000	0.36126	0.375000	0.24679	-0.377000	0.06932	TAT		0.542	LANCL1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336817.1	NM_006055		15	35	0	0	0	1	0	15	35					C	211341083	T	C	211341083	3	2	180	1	0	0	0	0	1	0	0	0	8620	1406	49	4	1197	4	LANCL1	2	211341083	Missense_Mutation	SNP	T	TCGA-G9-6498-01A-12D-A30X-08		211341083	31858290	3	8440											
PIK3CB	5291	broad.mit.edu	37	chr3	138426080	138426080	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aagctgttgcattttcagtaTatggatttgtttgaacagtt	10	18	9	4	0	1	1	1	1	0	0	1	2	1	2	0	1	3	6	0	1	4	8			TCGA-G9-6498-01A-12D-A30X-08	TCGA-G9-6498-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e807a5d4-8642-4757-a1e6-9fc58e6f5d65	e3e7e02b-0f70-4574-8d1c-63fd5b15d3bd	g.chr3:138426080T>C	ENST00000477593.1	-	10	1524	c.1451A>G	c.(1450-1452)tAt>tGt	p.Y484C	PIK3CB_ENST00000289153.2_Missense_Mutation_p.Y484C|PIK3CB_ENST00000544716.1_Intron			P42338	PK3CB_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit beta	484	C2 PI3K-type. {ECO:0000255|PROSITE- ProRule:PRU00880}.				activation of MAPK activity (GO:0000187)|autophagy (GO:0006914)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|cellular calcium ion homeostasis (GO:0006874)|chemotaxis (GO:0006935)|embryonic cleavage (GO:0040016)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|positive regulation of autophagy (GO:0010508)|regulation of cell-matrix adhesion (GO:0001952)|regulation of clathrin-mediated endocytosis (GO:2000369)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytosol (GO:0005829)|nucleus (GO:0005634)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)			NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	41					Caffeine(DB00201)	ATTTTCAGTATATGGATTTGT	0.299																																						ENST00000477593.1																			0				NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	41						c.(1450-1452)tAt>tGt		phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit beta							102	101	101					3																	138426080		2203	4298	6501	SO:0001583	missense	5291				activation of MAPK activity|chemotaxis|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell receptor signaling pathway	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	g.chr3:138426080T>C		CCDS3104.1	3q22.3	2013-09-19	2012-07-13		ENSG00000051382	ENSG00000051382	2.7.1.153		8976	protein-coding gene	gene with protein product		602925	"phosphoinositide-3-kinase, catalytic, beta polypeptide"	PIK3C1		8246984	Standard	NM_006219		Approved		uc011bmq.3	P42338	OTTHUMG00000159893	ENST00000477593.1:c.1451A>G	3.37:g.138426080T>C	ENSP00000418143:p.Tyr484Cys					PIK3CB_ENST00000289153.2_Missense_Mutation_p.Y484C|PIK3CB_ENST00000544716.1_Intron	p.Y484C			P42338	PK3CB_HUMAN			10	1524	-			484					D3DNF0|Q24JU2	Missense_Mutation	SNP	ENST00000477593.1	37	c.1451A>G	CCDS3104.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	21.5|21.5	4.162287|4.162287	0.78226|0.78226	.|.	.|.	ENSG00000051382|ENSG00000051382	ENST00000493568|ENST00000477593;ENST00000289153	.|T;T	.|0.70164	.|-0.46;-0.46	5.84|5.84	5.84|5.84	0.93424|0.93424	.|C2 calcium/lipid-binding domain, CaLB (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.74230|0.74230	0.3689|0.3689	L|L	0.40543|0.40543	1.245|1.245	0.80722|0.80722	D|D	1|1	.|D;D	.|0.61697	.|0.99;0.973	.|D;P	.|0.65140	.|0.932;0.852	T|T	0.73739|0.73739	-0.3888|-0.3888	5|10	.|0.41790	.|T	.|0.15	-18.7039|-18.7039	16.2055|16.2055	0.82126|0.82126	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|484;88	.|P42338;B4DZI3	.|PK3CB_HUMAN;.	V|C	133|484	.|ENSP00000418143:Y484C;ENSP00000289153:Y484C	.|ENSP00000289153:Y484C	I|Y	-|-	1|2	0|0	PIK3CB|PIK3CB	139908770|139908770	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.715000|0.715000	0.41141|0.41141	7.466000|7.466000	0.80914|0.80914	2.226000|2.226000	0.72624|0.72624	0.482000|0.482000	0.46254|0.46254	ATA|TAT		0.299	PIK3CB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358019.1			7	25	0	0	0	1	0	7	25					C	138426080	T	C	138426080	3	2	180	1	0	0	0	0	1	0	0	0	11914	1406	49	4	1815	4	PIK3CB	3	138426080	Missense_Mutation	SNP	T	TCGA-G9-6498-01A-12D-A30X-08		138426080	59596350	4	8441											
RGS12	6002	broad.mit.edu	37	chr4	3319513	3319513	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tttcaaccagcgctggctccCggtccacgtgctccgggagt	5	9	12	15	4	1	0	1	0	0	0	4	1	4	1	4	3	3	3	4	3	1	1			TCGA-G9-6498-01A-12D-A30X-08	TCGA-G9-6498-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e807a5d4-8642-4757-a1e6-9fc58e6f5d65	e3e7e02b-0f70-4574-8d1c-63fd5b15d3bd	g.chr4:3319513C>T	ENST00000344733.5	+	2	2520	c.1616C>T	c.(1615-1617)cCg>cTg	p.P539L	RGS12_ENST00000336727.3_Missense_Mutation_p.P539L|RGS12_ENST00000382788.3_Missense_Mutation_p.P539L|RGS12_ENST00000543385.1_Missense_Mutation_p.P539L	NM_198229.2	NP_937872.1	O14924	RGS12_HUMAN	regulator of G-protein signaling 12	539					positive regulation of GTPase activity (GO:0043547)|regulation of catalytic activity (GO:0050790)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|transcription, DNA-templated (GO:0006351)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|GTPase regulator activity (GO:0030695)|receptor signaling protein activity (GO:0005057)			autonomic_ganglia(1)|breast(4)|endometrium(3)|kidney(2)|large_intestine(9)|lung(16)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		CGCTGGCTCCCGGTCCACGTG	0.637																																						ENST00000336727.3																			0				autonomic_ganglia(1)|breast(4)|endometrium(3)|kidney(2)|large_intestine(9)|lung(16)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						c.(1615-1617)cCg>cTg		regulator of G-protein signaling 12							34	35	35					4																	3319513		2203	4300	6503	SO:0001583	missense	6002					condensed nuclear chromosome|cytoplasm|plasma membrane	GTPase activator activity|receptor signaling protein activity	g.chr4:3319513C>T	AF035152	CCDS3366.1, CCDS3367.1, CCDS3368.1	4p16.3	2008-02-05	2007-08-14		ENSG00000159788	ENSG00000159788		"Regulators of G-protein signaling"	9994	protein-coding gene	gene with protein product		602512	"regulator of G-protein signalling 12"			9651375	Standard	NM_198229		Approved		uc003ggw.3	O14924	OTTHUMG00000090277	ENST00000344733.5:c.1616C>T	4.37:g.3319513C>T	ENSP00000339381:p.Pro539Leu					RGS12_ENST00000382788.3_Missense_Mutation_p.P539L|RGS12_ENST00000543385.1_Missense_Mutation_p.P539L|RGS12_ENST00000344733.5_Missense_Mutation_p.P539L	p.P539L	NM_002926.3	NP_002917.1	O14924	RGS12_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.168)	2	2520	+			539					B1AQ30|B1AQ31|B1AQ32|B7Z764|E7EMN9|O14922|O14923|O43510|O75338|Q147X0|Q8WX95	Missense_Mutation	SNP	ENST00000344733.5	37	c.1616C>T	CCDS3366.1	.	.	.	.	.	.	.	.	.	.	C	17.20	3.329514	0.60743	.	.	ENSG00000159788	ENST00000543385;ENST00000344733;ENST00000336727;ENST00000382788	T;T;T;T	0.38887	1.11;1.12;1.14;1.14	4.25	4.25	0.50352	.	0.000000	0.85682	D	0.000000	T	0.49541	0.1563	M	0.63843	1.955	0.80722	D	1	P;D;D	0.62365	0.935;0.991;0.982	B;P;P	0.48677	0.285;0.463;0.586	T	0.58578	-0.7612	10	0.72032	D	0.01	-23.8571	15.8184	0.78621	0.0:1.0:0.0:0.0	.	539;539;539	Q8WX97;O14924;O14924-4	.;RGS12_HUMAN;.	L	539	ENSP00000440566:P539L;ENSP00000339381:P539L;ENSP00000338509:P539L;ENSP00000372238:P539L	ENSP00000338509:P539L	P	+	2	0	RGS12	3289311	1.000000	0.71417	0.918000	0.36340	0.775000	0.43874	6.703000	0.74633	2.196000	0.70406	0.491000	0.48974	CCG		0.637	RGS12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206602.1	NM_002926		10	41	0	0	0	1	0	10	41					T	3319513	C	T	3319513	3	4	180	1	0	0	0	0	1	0	0	0	13295	652	23	2	1618	2	RGS12	4	3319513	Missense_Mutation	SNP	C	TCGA-G9-6498-01A-12D-A30X-08		3319513	187834763	5	8442											
PCDHA2	56146	broad.mit.edu	37	chr5	140176001	140176001	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcagcgtgggatgcggacgcGcaggagaacgcgctggtgtc	7	6	18	10	6	1	1	1	0	0	1	2	4	1	3	0	4	3	2	0	4	1	0			TCGA-G9-6498-01A-12D-A30X-08	TCGA-G9-6498-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e807a5d4-8642-4757-a1e6-9fc58e6f5d65	e3e7e02b-0f70-4574-8d1c-63fd5b15d3bd	g.chr5:140176001G>A	ENST00000526136.1	+	1	1452	c.1452G>A	c.(1450-1452)gcG>gcA	p.A484A	PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000520672.2_Silent_p.A484A|PCDHA2_ENST00000378132.1_Silent_p.A484A|PCDHA1_ENST00000394633.3_Intron	NM_018905.2	NP_061728.1	Q9Y5H9	PCDA2_HUMAN	protocadherin alpha 2	484	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATGCGGACGCGCAGGAGAACG	0.657																																						ENST00000526136.1																			0				NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)	71						c.(1450-1452)gcG>gcA									70	72	71					5																	140176001		2203	4300	6503	SO:0001819	synonymous_variant	0							g.chr5:140176001G>A	AF152480	CCDS54914.1, CCDS64269.1	5q31	2010-11-26				ENSG00000204969		"Cadherins / Protocadherins : Clustered"	8668	other	complex locus constituent	"KIAA0345-like 12"	606308				10380929	Standard	NM_018905		Approved			Q9Y5H9		ENST00000526136.1:c.1452G>A	5.37:g.140176001G>A						PCDHA2_ENST00000378132.1_Silent_p.A484A|PCDHA2_ENST00000520672.2_Silent_p.A484A|PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron	p.A484A	NM_018905.2	NP_061728.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1452	+								O75287|Q9BTV3	Silent	SNP	ENST00000526136.1	37	c.1452G>A	CCDS54914.1																																																																																				0.657	PCDHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372877.3	NM_018905		20	96	0	0	0	1	0	20	96					A	140176001	G	A	140176001	2	1	180	1	0	0	0	0	0	0	0	1	11524	1074	38	1		1	PCDHA2	5	140176001	Silent	SNP	G	TCGA-G9-6498-01A-12D-A30X-08		140176001	40739259	6	8443											
TRIM40	135644	broad.mit.edu	37	chr6	30104886	30104886	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggagagcctgaaggaggccGtgagcaccaactgcggacat	12	4	15	10	2	0	3	0	2	0	1	0	6	0	5	3	4	4	1	3	4	2	0			TCGA-G9-6498-01A-12D-A30X-08	TCGA-G9-6498-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e807a5d4-8642-4757-a1e6-9fc58e6f5d65	e3e7e02b-0f70-4574-8d1c-63fd5b15d3bd	g.chr6:30104886G>A	ENST00000396581.1	+	2	459	c.73G>A	c.(73-75)Gtg>Atg	p.V25M	TRIM40_ENST00000376724.2_Missense_Mutation_p.V25M|TRIM40_ENST00000489892.1_3'UTR|TRIM40_ENST00000307859.4_Missense_Mutation_p.V25M			Q6P9F5	TRI40_HUMAN	tripartite motif containing 40	25					negative regulation of cell growth (GO:0030308)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of NIK/NF-kappaB signaling (GO:1901223)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of protein localization to nucleus (GO:1900181)|protein neddylation (GO:0045116)	IkappaB kinase complex (GO:0008385)	zinc ion binding (GO:0008270)			ovary(1)	1						GAAGGAGGCCGTGAGCACCAA	0.607																																						ENST00000396581.1																			0				ovary(1)	1						c.(73-75)Gtg>Atg		tripartite motif containing 40							91	72	79					6																	30104886		1511	2708	4219	SO:0001583	missense	135644					intracellular	zinc ion binding	g.chr6:30104886G>A	AF489517	CCDS4675.1, CCDS69069.1	6p21.31	2013-01-09	2011-01-25		ENSG00000204614	ENSG00000204614		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	18736	protein-coding gene	gene with protein product			"tripartite motif-containing 40"				Standard	NM_138700		Approved	RNF35	uc003npm.2	Q6P9F5	OTTHUMG00000031083	ENST00000396581.1:c.73G>A	6.37:g.30104886G>A	ENSP00000379826:p.Val25Met					TRIM40_ENST00000307859.4_Missense_Mutation_p.V25M|TRIM40_ENST00000376724.2_Missense_Mutation_p.V25M|TRIM40_ENST00000489892.1_3'UTR	p.V25M			Q6P9F5	TRI40_HUMAN			2	459	+			25					Q5SRJ6|Q5SS36|Q8TD96	Missense_Mutation	SNP	ENST00000396581.1	37	c.73G>A		.	.	.	.	.	.	.	.	.	.	G	12.93	2.085931	0.36758	.	.	ENSG00000204614	ENST00000396581;ENST00000376724;ENST00000307859	D;D;D	0.86562	-2.14;-2.14;-2.14	4.81	1.9	0.25705	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);Zinc finger, C3HC4 RING-type (1);	0.638257	0.12908	N	0.429175	T	0.78729	0.4329	M	0.79475	2.455	0.19300	N	0.999978	P;D	0.63046	0.947;0.992	B;P	0.45639	0.371;0.488	T	0.71414	-0.4600	10	0.87932	D	0	.	4.2196	0.10551	0.2229:0.1879:0.5892:0.0	.	25;25	Q5SRJ6;Q6P9F5	.;TRI40_HUMAN	M	25	ENSP00000379826:V25M;ENSP00000365914:V25M;ENSP00000308310:V25M	ENSP00000308310:V25M	V	+	1	0	TRIM40	30212865	0.264000	0.24093	0.047000	0.18901	0.663000	0.39108	1.100000	0.31025	0.176000	0.19873	-0.241000	0.12123	GTG		0.607	TRIM40-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000076117.2			19	49	0	0	0	1	0	19	49					A	30104886	G	A	30104886	3	1	180	1	0	0	0	0	1	0	0	0	16512	1145	40	1	75	1	TRIM40	6	30104886	Missense_Mutation	SNP	G	TCGA-G9-6498-01A-12D-A30X-08		30104886	141010181	7	8444											
GJA1	2697	broad.mit.edu	37	chr6	121768604	121768604	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtttcctctctcgccccaCggagaaaaccatcttcatca	9	11	5	16	2	4	1	2	0	2	1	7	2	5	1	4	1	1	1	4	1	2	2			TCGA-G9-6498-01A-12D-A30X-08	TCGA-G9-6498-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e807a5d4-8642-4757-a1e6-9fc58e6f5d65	e3e7e02b-0f70-4574-8d1c-63fd5b15d3bd	g.chr6:121768604C>T	ENST00000282561.3	+	2	768	c.611C>T	c.(610-612)aCg>aTg	p.T204M		NM_000165.3	NP_000156.1	P17302	CXA1_HUMAN	gap junction protein, alpha 1, 43kDa	204			T -> M (in dbSNP:rs2228965).		adult heart development (GO:0007512)|apoptotic process (GO:0006915)|ATP transport (GO:0015867)|atrial cardiac muscle cell action potential (GO:0086014)|atrial ventricular junction remodeling (GO:0003294)|blood vessel morphogenesis (GO:0048514)|cell communication by chemical coupling (GO:0010643)|cell communication by electrical coupling (GO:0010644)|cell-cell signaling (GO:0007267)|cellular response to mechanical stimulus (GO:0071260)|chronic inflammatory response (GO:0002544)|embryonic digit morphogenesis (GO:0042733)|endothelium development (GO:0003158)|epithelial cell maturation (GO:0002070)|gap junction assembly (GO:0016264)|heart development (GO:0007507)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|ion transmembrane transport (GO:0034220)|lens development in camera-type eye (GO:0002088)|membrane organization (GO:0061024)|milk ejection (GO:0060156)|muscle contraction (GO:0006936)|negative regulation of cardiac muscle cell proliferation (GO:0060044)|negative regulation of gene expression (GO:0010629)|neuron migration (GO:0001764)|neuron projection morphogenesis (GO:0048812)|osteoblast differentiation (GO:0001649)|positive regulation of behavioral fear response (GO:2000987)|positive regulation of cell communication by chemical coupling (GO:0010652)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of gene expression (GO:0010628)|positive regulation of glomerular filtration (GO:0003104)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of striated muscle tissue development (GO:0045844)|positive regulation of vasoconstriction (GO:0045907)|positive regulation of vasodilation (GO:0045909)|protein oligomerization (GO:0051259)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of bone mineralization (GO:0030500)|regulation of bone remodeling (GO:0046850)|regulation of calcium ion transport (GO:0051924)|regulation of tight junction assembly (GO:2000810)|regulation of ventricular cardiac muscle cell membrane depolarization (GO:0060373)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to fluid shear stress (GO:0034405)|response to peptide hormone (GO:0043434)|response to pH (GO:0009268)|signal transduction (GO:0007165)|skeletal muscle tissue regeneration (GO:0043403)|transmembrane transport (GO:0055085)|transport (GO:0006810)|vascular transport (GO:0010232)	apical plasma membrane (GO:0016324)|connexon complex (GO:0005922)|contractile fiber (GO:0043292)|cytosol (GO:0005829)|early endosome (GO:0005769)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|gap junction (GO:0005921)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi-associated vesicle membrane (GO:0030660)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intermediate filament (GO:0005882)|lateral plasma membrane (GO:0016328)|lysosome (GO:0005764)|membrane raft (GO:0045121)|mitochondrial outer membrane (GO:0005741)|multivesicular body (GO:0005771)|plasma membrane (GO:0005886)	gap junction channel activity (GO:0005243)|ion transmembrane transporter activity (GO:0015075)|signal transducer activity (GO:0004871)			autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(2)|large_intestine(10)|liver(2)|lung(13)|ovary(2)	33				GBM - Glioblastoma multiforme(226;0.00252)	Carvedilol(DB01136)	TCTCGCCCCACGGAGAAAACC	0.473																																						ENST00000282561.3																			0				autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(2)|large_intestine(10)|liver(2)|lung(13)|ovary(2)	33						c.(610-612)aCg>aTg		gap junction protein, alpha 1, 43kDa	Carvedilol(DB01136)						149	144	146					6																	121768604		2203	4300	6503	SO:0001583	missense	2697				cell-cell signaling|cellular membrane organization|gap junction assembly|heart development|muscle contraction|positive regulation of I-kappaB kinase/NF-kappaB cascade	connexon complex|Golgi-associated vesicle membrane|integral to plasma membrane|membrane raft	ion transmembrane transporter activity|signal transducer activity	g.chr6:121768604C>T	BC026329	CCDS5123.1	6q22.31	2013-05-10	2007-01-16		ENSG00000152661	ENSG00000152661		"Ion channels / Gap junction proteins (connexins)"	4274	protein-coding gene	gene with protein product	"oculodentodigital dysplasia (syndactyly type III)", "connexin 43"	121014	"gap junction protein, alpha-like", "gap junction protein, alpha 1, 43kDa (connexin 43)"	ODDD, GJAL		10331943, 1646158	Standard	NM_000165		Approved	CX43, ODD, ODOD, SDTY3	uc003pyr.3	P17302	OTTHUMG00000015479	ENST00000282561.3:c.611C>T	6.37:g.121768604C>T	ENSP00000282561:p.Thr204Met						p.T204M	NM_000165.3	NP_000156.1	P17302	CXA1_HUMAN		GBM - Glioblastoma multiforme(226;0.00252)	2	768	+			204		T -> M (in dbSNP:rs2228965).			B2R5U9|Q6FHU1|Q9Y5I8	Missense_Mutation	SNP	ENST00000282561.3	37	c.611C>T	CCDS5123.1	.	.	.	.	.	.	.	.	.	.	C	18.48	3.633322	0.67015	.	.	ENSG00000152661	ENST00000440608;ENST00000282561	D	0.96459	-4.02	5.81	5.81	0.92471	Gap junction protein, cysteine-rich domain (1);	0.000000	0.85682	D	0.000000	D	0.98457	0.9486	M	0.88377	2.95	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98411	1.0572	10	0.56958	D	0.05	.	20.0796	0.97766	0.0:1.0:0.0:0.0	.	204	P17302	CXA1_HUMAN	M	188;204	ENSP00000282561:T204M	ENSP00000282561:T204M	T	+	2	0	GJA1	121810303	1.000000	0.71417	0.964000	0.40570	0.716000	0.41182	7.776000	0.85560	2.758000	0.94735	0.460000	0.39030	ACG		0.473	GJA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042023.1	NM_000165		11	139	0	0	0	1	0	11	139					T	121768604	C	T	121768604	3	4	180	1	0	0	0	0	1	0	0	0	6400	536	19	1	613	1	GJA1	6	121768604	Missense_Mutation	SNP	C	TCGA-G9-6498-01A-12D-A30X-08	91663718	121768604	49346463	8	8445											
MAP3K5	4217	broad.mit.edu	37	chr6	136913365	136913365	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ttgtcttggtcttccgtcagGatcctgtgaagggtagctcg	5	14	13	9	2	3	1	1	1	2	0	6	2	5	2	2	3	1	2	2	3	2	4	rs368851337		TCGA-G9-6498-01A-12D-A30X-08	TCGA-G9-6498-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e807a5d4-8642-4757-a1e6-9fc58e6f5d65	e3e7e02b-0f70-4574-8d1c-63fd5b15d3bd	g.chr6:136913365G>T	ENST00000359015.4	-	23	3531	c.3171C>A	c.(3169-3171)atC>atA	p.I1057I	MAP3K5_ENST00000355845.4_Silent_p.I304I	NM_005923.3	NP_005914.1	Q99683	M3K5_HUMAN	mitogen-activated protein kinase kinase kinase 5	1057					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of JUN kinase activity (GO:0007257)|activation of MAPKK activity (GO:0000186)|apoptotic signaling pathway (GO:0097190)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to reactive nitrogen species (GO:1902170)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|JNK cascade (GO:0007254)|MAPK cascade (GO:0000165)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of neuron death (GO:1901216)|programmed necrotic cell death (GO:0097300)|protein phosphorylation (GO:0006468)|response to ischemia (GO:0002931)|viral process (GO:0016032)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|protein kinase complex (GO:1902911)	ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|magnesium ion binding (GO:0000287)|MAP kinase kinase kinase activity (GO:0004709)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein phosphatase binding (GO:0019903)			NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(6)|large_intestine(6)|lung(24)|ovary(2)|prostate(1)|skin(4)|urinary_tract(4)	58	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00137)|OV - Ovarian serous cystadenocarcinoma(155;0.00569)		CTTCCGTCAGGATCCTGTGAA	0.438																																						ENST00000359015.4																			0				NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(6)|large_intestine(6)|lung(24)|ovary(2)|prostate(1)|skin(4)|urinary_tract(4)	58						c.(3169-3171)atC>atA		mitogen-activated protein kinase kinase kinase 5							145	148	147					6																	136913365		2203	4300	6503	SO:0001819	synonymous_variant	4217				activation of JUN kinase activity|activation of MAPKK activity|cellular response to hydrogen peroxide|induction of apoptosis by extracellular signals|interspecies interaction between organisms		ATP binding|caspase activator activity|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein phosphatase binding	g.chr6:136913365G>T	U67156	CCDS5179.1	6q22.33	2011-06-09			ENSG00000197442	ENSG00000197442		"Mitogen-activated protein kinase cascade / Kinase kinase kinases"	6857	protein-coding gene	gene with protein product	"apoptosis signal regulating kinase 1"	602448		MEKK5		9465908	Standard	NM_005923		Approved	MAPKKK5, ASK1	uc003qhc.3	Q99683	OTTHUMG00000015647	ENST00000359015.4:c.3171C>A	6.37:g.136913365G>T						MAP3K5_ENST00000355845.4_Silent_p.I304I	p.I1057I	NM_005923.3	NP_005914.1	Q99683	M3K5_HUMAN		GBM - Glioblastoma multiforme(68;0.00137)|OV - Ovarian serous cystadenocarcinoma(155;0.00569)	23	3531	-	Colorectal(23;0.24)		1057					A6NIA0|B4DGB2|Q5THN3|Q99461	Silent	SNP	ENST00000359015.4	37	c.3171C>A	CCDS5179.1																																																																																				0.438	MAP3K5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042383.1			46	105	1	0	4.18559e-23	1	4.3849e-23	46	105					T	136913365	G	T	136913365	2	4	180	1	0	0	0	0	0	0	0	1	9253	1164	41	5		5	MAP3K5	6	136913365	Silent	SNP	G	TCGA-G9-6498-01A-12D-A30X-08	15144761	136913365	34201702	9	8446											
AQP1	358	broad.mit.edu	37	chr7	30961798	30961799	+	Frame_Shift_Ins	INS	-	-	C																															ccgtgaccttggtggctcagINSccccccttgccatcggcctc																								rs200005344	byFrequency	TCGA-G9-6498-01A-12D-A30X-08	TCGA-G9-6498-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e807a5d4-8642-4757-a1e6-9fc58e6f5d65	e3e7e02b-0f70-4574-8d1c-63fd5b15d3bd	g.chr7:30961798_30961799insC	ENST00000311813.4	+	2	557_558	c.502_503insC	c.(502-504)gccfs	p.A168fs	AQP1_ENST00000441328.2_Frame_Shift_Ins_p.A85fs|AQP1_ENST00000409611.1_Frame_Shift_Ins_p.A117fs|AQP1_ENST00000509504.1_Frame_Shift_Ins_p.A345fs|AQP1_ENST00000434909.2_Frame_Shift_Ins_p.A228fs|AQP1_ENST00000482461.1_3'UTR|AQP1_ENST00000409899.1_Frame_Shift_Ins_p.A53fs	NM_198098.2	NP_932766.1	P29972	AQP1_HUMAN	aquaporin 1 (Colton blood group)	168					ammonium transmembrane transport (GO:0072488)|ammonium transport (GO:0015696)|bicarbonate transport (GO:0015701)|camera-type eye morphogenesis (GO:0048593)|carbon dioxide transmembrane transport (GO:0035378)|carbon dioxide transport (GO:0015670)|cation transmembrane transport (GO:0098655)|cell volume homeostasis (GO:0006884)|cellular homeostasis (GO:0019725)|cellular hyperosmotic response (GO:0071474)|cellular response to cAMP (GO:0071320)|cellular response to copper ion (GO:0071280)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to hypoxia (GO:0071456)|cellular response to inorganic substance (GO:0071241)|cellular response to mechanical stimulus (GO:0071260)|cellular response to mercury ion (GO:0071288)|cellular response to nitric oxide (GO:0071732)|cellular response to retinoic acid (GO:0071300)|cellular response to salt stress (GO:0071472)|cellular response to stress (GO:0033554)|cellular response to UV (GO:0034644)|cerebrospinal fluid secretion (GO:0033326)|cGMP biosynthetic process (GO:0006182)|corticotropin secretion (GO:0051458)|establishment or maintenance of actin cytoskeleton polarity (GO:0030950)|glomerular filtration (GO:0003094)|glycerol transport (GO:0015793)|hyperosmotic salinity response (GO:0042538)|lateral ventricle development (GO:0021670)|lipid digestion (GO:0044241)|maintenance of symbiont-containing vacuole by host (GO:0085018)|metanephric descending thin limb development (GO:0072220)|metanephric glomerulus vasculature development (GO:0072239)|metanephric proximal convoluted tubule segment 2 development (GO:0072232)|metanephric proximal straight tubule development (GO:0072230)|multicellular organismal water homeostasis (GO:0050891)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|nitric oxide transport (GO:0030185)|odontogenesis (GO:0042476)|pancreatic juice secretion (GO:0030157)|positive regulation of angiogenesis (GO:0045766)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of lamellipodium assembly (GO:0010592)|positive regulation of saliva secretion (GO:0046878)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|renal water absorption (GO:0070295)|renal water transport (GO:0003097)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|secretory granule organization (GO:0033363)|sensory perception of pain (GO:0019233)|small molecule metabolic process (GO:0044281)|transepithelial water transport (GO:0035377)|transmembrane transport (GO:0055085)|water transport (GO:0006833)|wound healing (GO:0042060)	apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|axon terminus (GO:0043679)|basal plasma membrane (GO:0009925)|basolateral plasma membrane (GO:0016323)|brush border (GO:0005903)|brush border membrane (GO:0031526)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|symbiont-containing vacuole (GO:0020003)	ammonium transmembrane transporter activity (GO:0008519)|carbon dioxide transmembrane transporter activity (GO:0035379)|glycerol transmembrane transporter activity (GO:0015168)|intracellular cGMP activated cation channel activity (GO:0005223)|nitric oxide transmembrane transporter activity (GO:0030184)|potassium channel activity (GO:0005267)|potassium ion transmembrane transporter activity (GO:0015079)|transmembrane transporter activity (GO:0022857)|water channel activity (GO:0015250)|water transmembrane transporter activity (GO:0005372)			kidney(1)|large_intestine(2)|lung(9)	12		Melanoma(862;0.16)			Acetazolamide(DB00819)	TGGTGGCTCAGCCCCCCTTGCC	0.683																																						ENST00000311813.4																			0				kidney(1)|large_intestine(2)|lung(9)	12						c.(502-504)cccfs		aquaporin 1																																				SO:0001589	frameshift_variant	358							g.chr7:30961798_30961799insC	M77829	CCDS5431.1, CCDS55096.1, CCDS55097.1, CCDS55098.1	7p14	2014-07-19	2014-01-02		ENSG00000240583	ENSG00000240583		"Ion channels / Aquaporins", "Blood group antigens"	633	protein-coding gene	gene with protein product		107776	"Colton blood group", "aquaporin 1 (channel-forming integral protein, 28kDa)", "aquaporin 1 (channel-forming integral protein, 28kDa, CO blood group)", "aquaporin 1"	CO		1722319, 3166547	Standard	NM_198098		Approved	CHIP28		P29972	OTTHUMG00000023944	ENST00000311813.4:c.508dupC	7.37:g.30961804_30961804dupC	ENSP00000311165:p.Ala168fs					AQP1_ENST00000441328.2_Frame_Shift_Ins_p.P85fs|AQP1_ENST00000509504.1_Frame_Shift_Ins_p.P345fs|AQP1_ENST00000434909.2_Frame_Shift_Ins_p.P228fs|AQP1_ENST00000482461.1_3'UTR|AQP1_ENST00000409611.1_Frame_Shift_Ins_p.P117fs|AQP1_ENST00000409899.1_Frame_Shift_Ins_p.P53fs	p.P168fs	NM_198098.2	NP_932766.1					2	557_558	+		Melanoma(862;0.16)						B5BU39|E7EM69|E9PC21|F5GY19|Q8TBI5|Q8TDC1	Frame_Shift_Ins	INS	ENST00000311813.4	37	c.502_503insC	CCDS5431.1																																																																																				0.683	AQP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215002.3	NM_000385		26	48						26	48	---	---	---	---	C	30961799	-	C	30961798	7	5	180	1	0	1	1	0	0	0	0	0	821	971	34	0	765	0	AQP1	7	30961798	Frame_Shift_Ins	INS	-	TCGA-G9-6498-01A-12D-A30X-08		30961798	128176865	10	8447											
BRAF	673	broad.mit.edu	37	chr7	140481402	140481402	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	actttcccttgtagactgttCcaaatgatccagatccaatt	11	14	5	11	0	0	3	0	1	0	2	4	3	4	3	4	0	0	2	4	0	3	5	rs121913358|rs397516890|rs121913355		TCGA-G9-6498-01A-12D-A30X-08	TCGA-G9-6498-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e807a5d4-8642-4757-a1e6-9fc58e6f5d65	e3e7e02b-0f70-4574-8d1c-63fd5b15d3bd	g.chr7:140481402C>G	ENST00000288602.6	-	11	1466	c.1406G>C	c.(1405-1407)gGa>gCa	p.G469A		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	469	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		G -> A (in NHL; also in a lung adenocarcinoma sample; somatic mutation; elevated kinase activity; efficiently induces cell transformation). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:14612909, ECO:0000269|PubMed:17344846}.|G -> E (in CFC1 and colon cancer). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:16439621, ECO:0000269|PubMed:16474404, ECO:0000269|PubMed:18042262, ECO:0000269|PubMed:19206169}.|G -> R (in NHL). {ECO:0000269|PubMed:14612909}.|G -> V (in a colorectal adenocarcinoma sample; somatic mutation). {ECO:0000269|PubMed:17344846}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.G469A(19)|p.G469V(13)|p.G469S(5)|p.G469E(5)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	GTAGACTGTTCCAAATGATCC	0.373	G469A(NCIH1395_LUNG)|G469A(NCIH1755_LUNG)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	ENST00000288602.6	G469A(NCIH1395_LUNG)|G469A(NCIH1755_LUNG)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	42	Substitution - Missense(42)	p.G469A(19)|p.G469V(13)|p.G469S(5)|p.G469E(5)	lung(13)|large_intestine(9)|haematopoietic_and_lymphoid_tissue(6)|skin(6)|biliary_tract(2)|NS(2)|upper_aerodigestive_tract(1)|cervix(1)|small_intestine(1)|oesophagus(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	GRCh37	CM060876	BRAF	M	rs121913355	c.(1405-1407)gGa>gCa		v-raf murine sarcoma viral oncogene homolog B	Sorafenib(DB00398)						174	149	158					7																	140481402		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140481402C>G	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1406G>C	7.37:g.140481402C>G	ENSP00000288602:p.Gly469Ala						p.G469A	NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN			11	1466	-	Melanoma(164;0.00956)		469		G -> A (in NHL; also in a lung adenocarcinoma sample; somatic mutation; elevated kinase activity; efficiently induces cell transformation).|G -> E (in CFC syndrome and colon cancer).|G -> R (in NHL).|G -> V (in a colorectal adenocarcinoma sample; somatic mutation).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1406G>C	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	31|31	5.088365|5.088365	0.94100|0.94100	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000496384|ENST00000288602	.|D	.|0.89415	.|-2.51	5.62|5.62	5.62|5.62	0.85841|0.85841	.|Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.92008|0.92008	0.7468|0.7468	L|L	0.54323|0.54323	1.7|1.7	0.80722|0.80722	D|D	1|1	.|D	.|0.59357	.|0.985	.|P	.|0.58210	.|0.835	D|D	0.92595|0.92595	0.6086|0.6086	5|10	.|0.87932	.|D	.|0	.|.	17.8428|17.8428	0.88720|0.88720	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|469	.|P15056	.|BRAF_HUMAN	Q|A	77|469	.|ENSP00000288602:G469A	.|ENSP00000288602:G469A	E|G	-|-	1|2	0|0	BRAF|BRAF	140127871|140127871	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	7.818000|7.818000	0.86416|0.86416	2.637000|2.637000	0.89404|0.89404	0.585000|0.585000	0.79938|0.79938	GAA|GGA		0.373	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		10	97	0	0	0	1	0	10	97					G	140481402	C	G	140481402	3	3	180	1	0	0	0	0	1	0	0	0	1496	855	30	5	926	5	BRAF	7	140481402	Missense_Mutation	SNP	C	TCGA-G9-6498-01A-12D-A30X-08	109519604	140481402	18657261	11	8448											
RBP3	5949	broad.mit.edu	37	chr10	48389894	48389894	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tcctggaggcagtggactacCcctggaagggcgctgcgcag	7	6	16	12	2	0	0	0	0	0	0	1	3	1	3	3	5	2	3	3	5	2	1	rs145181839		TCGA-G9-6498-01A-12D-A30X-08	TCGA-G9-6498-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e807a5d4-8642-4757-a1e6-9fc58e6f5d65	e3e7e02b-0f70-4574-8d1c-63fd5b15d3bd	g.chr10:48389894C>G	ENST00000224600.4	-	1	1097	c.984G>C	c.(982-984)ggG>ggC	p.G328G	AL731561.2_ENST00000581861.1_RNA	NM_002900.2	NP_002891.1	P10745	RET3_HUMAN	retinol binding protein 3, interstitial	328	4 X approximate tandem repeats.				lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|transport (GO:0006810)|visual perception (GO:0007601)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|interphotoreceptor matrix (GO:0033165)|vesicle (GO:0031982)	retinal binding (GO:0016918)|retinoid binding (GO:0005501)|retinol binding (GO:0019841)|serine-type peptidase activity (GO:0008236)			central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59					Vitamin A(DB00162)	AGTGGACTACCCCTGGAAGGG	0.672																																						ENST00000224600.4																			0				central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59						c.(982-984)ggG>ggC		retinol binding protein 3, interstitial	Vitamin A(DB00162)						36	35	35					10																	48389894		2203	4300	6503	SO:0001819	synonymous_variant	5949				lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity	g.chr10:48389894C>G	M22453	CCDS73119.1	10q11.2	2014-05-06	2001-11-28		ENSG00000107618	ENSG00000265203			9921	protein-coding gene	gene with protein product		180290	"retinol-binding protein 3, interstitial"				Standard	NM_002900		Approved	D10S64, D10S65, D10S66, RP66	uc001jez.3	P10745	OTTHUMG00000188321	ENST00000224600.4:c.984G>C	10.37:g.48389894C>G							p.G328G	NM_002900.2	NP_002891.1	P10745	RET3_HUMAN			1	1097	-			328			4 X approximate tandem repeats.		Q0QD34|Q5VSR0|Q8IXN0	Silent	SNP	ENST00000224600.4	37	c.984G>C	CCDS7218.1																																																																																				0.672	RBP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047888.1	NM_002900		8	31	0	0	0	1	0	8	31					G	48389894	C	G	48389894	2	3	180	1	0	0	0	0	0	0	0	1	13157	610	22	5		5	RBP3	10	48389894	Silent	SNP	C	TCGA-G9-6498-01A-12D-A30X-08		48389894	87144853	12	8449											
C10orf71	118461	broad.mit.edu	37	chr10	50530906	50530906	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tccaacagctacccaagtacGttcagggagaggaaaagtac	15	6	10	10	1	1	1	1	0	0	1	2	3	2	2	2	2	5	4	2	2	7	4	rs201139916	byFrequency	TCGA-G9-6498-01A-12D-A30X-08	TCGA-G9-6498-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e807a5d4-8642-4757-a1e6-9fc58e6f5d65	e3e7e02b-0f70-4574-8d1c-63fd5b15d3bd	g.chr10:50530906G>A	ENST00000374144.3	+	3	604	c.316G>A	c.(316-318)Gtt>Att	p.V106I	C10orf71_ENST00000323868.4_Missense_Mutation_p.V106I			Q711Q0	CJ071_HUMAN	chromosome 10 open reading frame 71	106										endometrium(1)	1						ACCCAAGTACGTTCAGGGAGA	0.592													G|||	7	0.00139776	0.0038	0.0029	5008	,	,		17797	0		0	False		,,,				2504	0					ENST00000374144.3																			0				endometrium(1)	1						c.(316-318)Gtt>Att		chromosome 10 open reading frame 71		G	ILE/VAL,ILE/VAL	18,3874		0,18,1928	107	120	116		316,316	4.9	0.7	10		116	0,8262		0,0,4131	yes	missense,missense	C10orf71	NM_001135196.1,NM_199459.3	29,29	0,18,6059	AA,AG,GG		0.0,0.4625,0.1481	probably-damaging,probably-damaging	106/1436,106/720	50530906	18,12136	1946	4131	6077	SO:0001583	missense	118461							g.chr10:50530906G>A	AL833265	CCDS44387.1	10q11.23	2012-05-31			ENSG00000177354	ENSG00000177354			26973	protein-coding gene	gene with protein product							Standard	NM_001135196		Approved	FLJ45913	uc021pqa.2	Q711Q0	OTTHUMG00000018190	ENST00000374144.3:c.316G>A	10.37:g.50530906G>A	ENSP00000363259:p.Val106Ile					C10orf71_ENST00000323868.4_Missense_Mutation_p.V106I	p.V106I			Q711Q0	CJ071_HUMAN			3	604	+			106					A0AVL8	Missense_Mutation	SNP	ENST00000374144.3	37	c.316G>A	CCDS44387.1	.	.	.	.	.	.	.	.	.	.	G	16.98	3.271258	0.59649	0.004625	0.0	ENSG00000177354	ENST00000323868;ENST00000374144	T;T	0.16743	2.32;3.45	4.94	4.94	0.65067	.	0.000000	0.43260	D	0.000599	T	0.25494	0.0620	M	0.66939	2.045	0.09310	N	1	D	0.62365	0.991	P	0.51324	0.666	T	0.17745	-1.0359	10	0.40728	T	0.16	.	7.6954	0.28592	0.0823:0.0:0.754:0.1637	.	106	Q711Q0-3	.	I	106	ENSP00000318713:V106I;ENSP00000363259:V106I	ENSP00000318713:V106I	V	+	1	0	C10orf71	50200912	0.983000	0.35010	0.660000	0.29694	0.928000	0.56348	2.746000	0.47467	2.287000	0.76781	0.462000	0.41574	GTT		0.592	C10orf71-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047984.2	NM_199459		8	119	0	0	0	1	0	8	119					A	50530906	G	A	50530906	3	1	180	1	0	0	0	0	1	0	0	0	1614	1145	40	1	318	1	C10orf71	10	50530906	Missense_Mutation	SNP	G	TCGA-G9-6498-01A-12D-A30X-08	2141012	50530906	85003841	13	8450											
WDR11	55717	broad.mit.edu	37	chr10	122646216	122646219	+	Frame_Shift_Del	DEL	AGAA	AGAA	-																															caaagcttgctgcaggaggcAgaaagtaaatctgaacttag																										TCGA-G9-6498-01A-12D-A30X-08	TCGA-G9-6498-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e807a5d4-8642-4757-a1e6-9fc58e6f5d65	e3e7e02b-0f70-4574-8d1c-63fd5b15d3bd	g.chr10:122646216_122646219delAGAA	ENST00000263461.6	+	16	2235_2238	c.1989_1992delAGAA	c.(1987-1992)gcagaafs	p.AE663fs	WDR11_ENST00000604509.1_3'UTR	NM_018117.11	NP_060587.8	Q8WWQ0	PHIP_HUMAN	WD repeat domain 11	0			V -> G (in dbSNP:rs7747479). {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:17636024, ECO:0000269|PubMed:20068231, ECO:0000269|Ref.2, ECO:0000269|Ref.4}.		cytoskeleton organization (GO:0007010)|insulin receptor signaling pathway (GO:0008286)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of mitosis (GO:0045840)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein import into nucleus (GO:0006606)|regulation of cell morphogenesis (GO:0022604)|regulation of growth (GO:0040008)|regulation of protein phosphorylation (GO:0001932)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	insulin receptor binding (GO:0005158)|lysine-acetylated histone binding (GO:0070577)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(9)|prostate(2)|skin(2)|stomach(5)	38						TGCAGGAGGCAGAAAGTAAATCTG	0.382																																						ENST00000263461.6																			0				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(9)|prostate(2)|skin(2)|stomach(5)	38						c.(1987-1992)gcfs		WD repeat domain 11																																				SO:0001589	frameshift_variant	55717					integral to membrane		g.chr10:122646216_122646219delAGAA	AF320223	CCDS7619.1	10q26	2013-01-21	2010-01-06	2010-01-06	ENSG00000120008	ENSG00000120008		"WD repeat domain containing"	13831	protein-coding gene	gene with protein product		606417	"bromodomain and WD repeat domain containing 2"	BRWD2		10718198, 11536051	Standard	NM_018117		Approved	KIAA1351, FLJ10506, WDR15, HH14, DR11	uc021pzt.1	Q9BZH6	OTTHUMG00000019171	ENST00000263461.6:c.1989_1992delAGAA	10.37:g.122646216_122646219delAGAA	ENSP00000263461:p.Ala663fs					WDR11_ENST00000604509.1_3'UTR	p.AE663fs	NM_018117.11	NP_060587.8	Q9BZH6	WDR11_HUMAN			16	2235_2238	+			663					A7J992|B2RPK4|Q05CQ9|Q5VVH4|Q66I29|Q69YV1|Q8NBZ5|Q96H52|Q96ME2|Q9H261	Frame_Shift_Del	DEL	ENST00000263461.6	37	c.1989_1992delAGAA	CCDS7619.1																																																																																				0.382	WDR11-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050707.2			7	34						7	34	---	---	---	---	-	122646219	AGAA	-	122646216	7	5	180	1	0	1	0	1	0	0	0	0	17270	175	7	0	2051	0	WDR11	10	122646216	Frame_Shift_Del	DEL	AGAA	TCGA-G9-6498-01A-12D-A30X-08	72115310	122646216	12888531	14	8451											
HTRA1	5654	broad.mit.edu	37	chr10	124273783	124273783	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgccaatgatgtcagcgacGtcattaaaagggaaagcacc	14	6	10	11	3	2	1	2	1	0	0	2	3	2	2	3	1	2	1	3	1	4	1	rs149822364	byFrequency	TCGA-G9-6498-01A-12D-A30X-08	TCGA-G9-6498-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e807a5d4-8642-4757-a1e6-9fc58e6f5d65	e3e7e02b-0f70-4574-8d1c-63fd5b15d3bd	g.chr10:124273783G>A	ENST00000368984.3	+	9	1479	c.1351G>A	c.(1351-1353)Gtc>Atc	p.V451I		NM_002775.4	NP_002766.1	Q92743	HTRA1_HUMAN	HtrA serine peptidase 1	451	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|proteolysis (GO:0006508)|regulation of cell growth (GO:0001558)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			endometrium(1)|kidney(1)|large_intestine(8)|lung(7)	17		all_neural(114;0.0765)|Lung NSC(174;0.133)|all_lung(145;0.163)|Breast(234;0.238)				TGTCAGCGACGTCATTAAAAG	0.483																																						ENST00000368984.3																			0				endometrium(1)|kidney(1)|large_intestine(8)|lung(7)	17						c.(1351-1353)Gtc>Atc		HtrA serine peptidase 1		G	ILE/VAL	0,4406		0,0,2203	250	220	230		1351	4.5	1	10	dbSNP_134	230	4,8596	3.7+/-12.6	0,4,4296	yes	missense	HTRA1	NM_002775.4	29	0,4,6499	AA,AG,GG		0.0465,0.0,0.0308	benign	451/481	124273783	4,13002	2203	4300	6503	SO:0001583	missense	5654				proteolysis|regulation of cell growth	extracellular space	insulin-like growth factor binding|serine-type endopeptidase activity	g.chr10:124273783G>A	AF097709	CCDS7630.1	10q26.3	2014-01-28	2005-08-18	2005-08-18	ENSG00000166033	ENSG00000166033		"Serine peptidases / Serine peptidases"	9476	protein-coding gene	gene with protein product		602194	"protease, serine, 11 (IGF binding)"	PRSS11		8977104	Standard	NM_002775		Approved	HtrA, IGFBP5-protease, ARMD7	uc001lgj.2	Q92743	OTTHUMG00000019186	ENST00000368984.3:c.1351G>A	10.37:g.124273783G>A	ENSP00000357980:p.Val451Ile						p.V451I	NM_002775.4	NP_002766.1	Q92743	HTRA1_HUMAN			9	1479	+		all_neural(114;0.0765)|Lung NSC(174;0.133)|all_lung(145;0.163)|Breast(234;0.238)	451			PDZ.		D3DRE4|Q9UNS5	Missense_Mutation	SNP	ENST00000368984.3	37	c.1351G>A	CCDS7630.1	.	.	.	.	.	.	.	.	.	.	G	12.47	1.949000	0.34377	0.0	4.65E-4	ENSG00000166033	ENST00000368984;ENST00000435263;ENST00000420892	T;T	0.27557	1.66;1.66	5.38	4.47	0.54385	PDZ/DHR/GLGF (4);	0.363555	0.28156	N	0.016395	T	0.13329	0.0323	N	0.03224	-0.385	0.27811	N	0.942133	B	0.09022	0.002	B	0.11329	0.006	T	0.11743	-1.0575	10	0.36615	T	0.2	-9.7112	7.8443	0.29417	0.1094:0.1619:0.7286:0.0	.	451	Q92743	HTRA1_HUMAN	I	451;418;192	ENSP00000357980:V451I;ENSP00000412676:V192I	ENSP00000357980:V451I	V	+	1	0	HTRA1	124263773	1.000000	0.71417	0.993000	0.49108	0.545000	0.35147	3.478000	0.53158	1.254000	0.44035	0.655000	0.94253	GTC		0.483	HTRA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128327.1	NM_002775		51	140	0	0	0	1	0	51	140					A	124273783	G	A	124273783	3	1	180	1	0	0	0	0	1	0	0	0	7453	1145	40	1	1385	1	HTRA1	10	124273783	Missense_Mutation	SNP	G	TCGA-G9-6498-01A-12D-A30X-08	1627567	124273783	11260964	15	8452											
RRM1	6240	broad.mit.edu	37	chr11	4130909	4130909	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	attatctatgaccgagatttCtcttacaattacttcggctt	10	17	5	9	2	2	2	0	1	2	1	4	3	2	2	1	1	2	1	1	1	5	7			TCGA-G9-6498-01A-12D-A30X-08	TCGA-G9-6498-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e807a5d4-8642-4757-a1e6-9fc58e6f5d65	e3e7e02b-0f70-4574-8d1c-63fd5b15d3bd	g.chr11:4130909C>T	ENST00000300738.5	+	5	627	c.423C>T	c.(421-423)ttC>ttT	p.F141F	RRM1_ENST00000423050.2_Silent_p.F44F	NM_001033.3	NP_001024.1	P23921	RIR1_HUMAN	ribonucleotide reductase M1	141					cell proliferation in forebrain (GO:0021846)|deoxyribonucleotide biosynthetic process (GO:0009263)|DNA replication (GO:0006260)|male gonad development (GO:0008584)|mitotic cell cycle (GO:0000278)|nucleobase-containing small molecule interconversion (GO:0015949)|nucleobase-containing small molecule metabolic process (GO:0055086)|protein heterotetramerization (GO:0051290)|pyrimidine nucleobase metabolic process (GO:0006206)|response to ionizing radiation (GO:0010212)|retina development in camera-type eye (GO:0060041)|small molecule metabolic process (GO:0044281)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|neuronal cell body (GO:0043025)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|ribonucleoside-diphosphate reductase activity, thioredoxin disulfide as acceptor (GO:0004748)			breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|skin(2)	14		Medulloblastoma(188;0.0025)|Breast(177;0.00502)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0848)|LUSC - Lung squamous cell carcinoma(625;0.205)	Cladribine(DB00242)|Clofarabine(DB00631)|Fludarabine(DB01073)|Gemcitabine(DB00441)|Hydroxyurea(DB01005)	ACCGAGATTTCTCTTACAATT	0.294																																					NSCLC(45;1345 1376 6258 22925)|Ovarian(34;894 1053 6175 12768)	ENST00000300738.5																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|skin(2)	14						c.(421-423)ttC>ttT		ribonucleotide reductase M1	Clofarabine(DB00631)|Fludarabine(DB01073)|Gemcitabine(DB00441)|Hydroxyurea(DB01005)						60	61	61					11																	4130909		2201	4297	6498	SO:0001819	synonymous_variant	6240				deoxyribonucleotide biosynthetic process|DNA replication|nucleobase, nucleoside and nucleotide interconversion	cytosol|nucleoplasm|ribonucleoside-diphosphate reductase complex	ATP binding|ribonucleoside-diphosphate reductase activity	g.chr11:4130909C>T	X59543	CCDS7750.1	11p15.5	2009-07-10	2008-03-11		ENSG00000167325	ENSG00000167325	1.17.14.1		10451	protein-coding gene	gene with protein product		180410	"ribonucleotide reductase M1 polypeptide"			7557993	Standard	NM_001033		Approved		uc001lyw.4	P23921	OTTHUMG00000133361	ENST00000300738.5:c.423C>T	11.37:g.4130909C>T						RRM1_ENST00000423050.2_Silent_p.F44F	p.F141F	NM_001033.3	NP_001024.1	P23921	RIR1_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.0848)|LUSC - Lung squamous cell carcinoma(625;0.205)	5	627	+		Medulloblastoma(188;0.0025)|Breast(177;0.00502)|all_neural(188;0.0227)	141					Q9UNN2	Silent	SNP	ENST00000300738.5	37	c.423C>T	CCDS7750.1																																																																																				0.294	RRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257197.1	NM_001033		8	26	0	0	0	1	0	8	26					T	4130909	C	T	4130909	2	4	180	1	0	0	0	0	0	0	0	1	13681	912	32	3		3	RRM1	11	4130909	Silent	SNP	C	TCGA-G9-6498-01A-12D-A30X-08		4130909	130875607	16	8453											
PIK3C2A	5286	broad.mit.edu	37	chr11	17190738	17190738	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccggaagacttaaatatataGgttctgtagatggaaaagtg	15	11	11	4	1	1	2	0	0	1	2	1	4	1	4	1	3	0	2	1	3	9	6			TCGA-G9-6498-01A-12D-A30X-08	TCGA-G9-6498-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e807a5d4-8642-4757-a1e6-9fc58e6f5d65	e3e7e02b-0f70-4574-8d1c-63fd5b15d3bd	g.chr11:17190738G>A	ENST00000265970.7	-	1	550	c.551C>T	c.(550-552)cCt>cTt	p.P184L	PIK3C2A_ENST00000540361.1_Intron|PIK3C2A_ENST00000531428.1_Intron	NM_002645.2	NP_002636.2	O00443	P3C2A_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 alpha	184					clathrin coat assembly (GO:0048268)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|exocytosis (GO:0006887)|insulin receptor signaling pathway (GO:0008286)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|small molecule metabolic process (GO:0044281)|vascular smooth muscle contraction (GO:0014829)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol binding (GO:0035091)			central_nervous_system(4)|endometrium(5)|kidney(5)|large_intestine(7)|lung(24)|ovary(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	58						TAAATATATAGGTTCTGTAGA	0.398																																						ENST00000265970.7																			0				central_nervous_system(4)|endometrium(5)|kidney(5)|large_intestine(7)|lung(24)|ovary(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	58						c.(550-552)cCt>cTt		phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 alpha	Phosphatidylserine(DB00144)						72	77	75					11																	17190738		2200	4293	6493	SO:0001583	missense	5286				cell communication|phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling	clathrin-coated vesicle|Golgi apparatus|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity	g.chr11:17190738G>A	Y13367	CCDS7824.1	11p15.5-p14	2012-07-13	2012-07-13			ENSG00000011405	2.7.1.154		8971	protein-coding gene	gene with protein product		603601	"phosphoinositide-3-kinase, class 2, alpha polypeptide"			9337861	Standard	NM_002645		Approved	PI3K-C2alpha	uc001mmq.4	O00443		ENST00000265970.7:c.551C>T	11.37:g.17190738G>A	ENSP00000265970:p.Pro184Leu					PIK3C2A_ENST00000540361.1_Intron|PIK3C2A_ENST00000531428.1_Intron	p.P184L	NM_002645.2	NP_002636.2	O00443	P3C2A_HUMAN			1	550	-			184					B0LPH2|B4E2G4|Q14CQ9	Missense_Mutation	SNP	ENST00000265970.7	37	c.551C>T	CCDS7824.1	.	.	.	.	.	.	.	.	.	.	G	16.07	3.019767	0.54576	.	.	ENSG00000011405	ENST00000265970;ENST00000544896	T	0.64991	-0.13	5.53	5.53	0.82687	.	0.536188	0.21650	N	0.071193	T	0.62962	0.2471	L	0.29908	0.895	0.80722	D	1	D;P	0.55800	0.973;0.747	P;B	0.54270	0.747;0.255	T	0.55166	-0.8183	10	0.11794	T	0.64	-9.2283	19.4395	0.94813	0.0:0.0:1.0:0.0	.	184;184	F5H5W9;O00443	.;P3C2A_HUMAN	L	184	ENSP00000265970:P184L	ENSP00000265970:P184L	P	-	2	0	PIK3C2A	17147314	1.000000	0.71417	0.994000	0.49952	0.998000	0.95712	4.140000	0.58031	2.591000	0.87537	0.591000	0.81541	CCT		0.398	PIK3C2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387553.1	NM_002645		25	60	0	0	0	1	0	25	60					A	17190738	G	A	17190738	3	1	180	1	0	0	0	0	1	0	0	0	11909	1000	35	3	4637	3	PIK3C2A	11	17190738	Missense_Mutation	SNP	G	TCGA-G9-6498-01A-12D-A30X-08	13059829	17190738	117815778	17	8454											
ARFGAP2	84364	broad.mit.edu	37	chr11	47198145	47198145	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agaaaacaccgtacgtgatgCtggcccaactcggattcttg	11	9	10	11	3	1	2	0	1	1	1	2	3	1	3	2	2	4	2	2	2	4	3			TCGA-G9-6498-01A-12D-A30X-08	TCGA-G9-6498-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e807a5d4-8642-4757-a1e6-9fc58e6f5d65	e3e7e02b-0f70-4574-8d1c-63fd5b15d3bd	g.chr11:47198145C>T	ENST00000524782.1	-	2	341	c.113G>A	c.(112-114)aGc>aAc	p.S38N	ARFGAP2_ENST00000319543.6_5'UTR|ARFGAP2_ENST00000419701.2_5'UTR|ARFGAP2_ENST00000426335.2_Missense_Mutation_p.S38N|ARFGAP2_ENST00000395449.3_5'UTR	NM_001242832.1|NM_032389.4	NP_001229761.1|NP_115765.2	Q8N6H7	ARFG2_HUMAN	ADP-ribosylation factor GTPase activating protein 2	38	Arf-GAP. {ECO:0000255|PROSITE- ProRule:PRU00288}.				protein transport (GO:0015031)|regulation of ARF GTPase activity (GO:0032312)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)	p.S38N(1)		breast(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23						GTACGTGATGCTGGCCCAACT	0.632																																						ENST00000524782.1																			1	Substitution - Missense(1)	p.S38N(1)	prostate(1)	breast(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23						c.(112-114)aGc>aAc		ADP-ribosylation factor GTPase activating protein 2							76	76	76					11																	47198145		2201	4298	6499	SO:0001583	missense	84364				protein transport|regulation of ARF GTPase activity|vesicle-mediated transport	Golgi membrane|nucleolus|plasma membrane	ARF GTPase activator activity|zinc ion binding	g.chr11:47198145C>T	AK027482	CCDS7926.1, CCDS73283.1	11p11.2-p11.12	2012-10-05	2008-01-09	2008-01-09	ENSG00000149182	ENSG00000149182		"ADP-ribosylation factor GTPase activating proteins"	13504	protein-coding gene	gene with protein product		606908	"zinc finger protein 289, ID1 regulated"	ZNF289		11278321, 14690497	Standard	NM_032389		Approved	IRZ, Zfp289, FLJ14576	uc001ndt.3	Q8N6H7	OTTHUMG00000166773	ENST00000524782.1:c.113G>A	11.37:g.47198145C>T	ENSP00000434442:p.Ser38Asn					ARFGAP2_ENST00000419701.2_5'UTR|ARFGAP2_ENST00000426335.2_Missense_Mutation_p.S38N|ARFGAP2_ENST00000395449.3_5'UTR|ARFGAP2_ENST00000319543.6_5'UTR	p.S38N	NM_001242832.1|NM_032389.4	NP_001229761.1|NP_115765.2	Q8N6H7	ARFG2_HUMAN			2	341	-			38			Arf-GAP.		B4DX29|B7Z9M7|D3DQQ9|Q3LIF2|Q8N3I1|Q96SX7	Missense_Mutation	SNP	ENST00000524782.1	37	c.113G>A	CCDS7926.1	.	.	.	.	.	.	.	.	.	.	C	34	5.309429	0.95629	.	.	ENSG00000149182	ENST00000426335;ENST00000524782;ENST00000526342;ENST00000527927;ENST00000525398;ENST00000525314;ENST00000528444;ENST00000530596	T;T;T;T;T;T;T;T	0.55413	0.52;0.52;0.52;0.52;0.52;0.52;0.52;0.52	5.49	3.6	0.41247	.	0.042391	0.85682	N	0.000000	T	0.79592	0.4472	H	0.97023	3.925	0.80722	D	1	D;D;D;D	0.89917	1.0;0.994;1.0;0.999	D;D;D;D	0.91635	0.999;0.974;0.997;0.998	T	0.82725	-0.0315	10	0.87932	D	0	-19.3778	10.3	0.43646	0.136:0.7938:0.0:0.0702	.	38;38;38;38	B7Z6H9;B3KV00;G5E9L0;Q8N6H7	.;.;.;ARFG2_HUMAN	N	38	ENSP00000400226:S38N;ENSP00000434442:S38N;ENSP00000437305:S38N;ENSP00000434433:S38N;ENSP00000431939:S38N;ENSP00000434809:S38N;ENSP00000431684:S38N;ENSP00000435488:S38N	ENSP00000400226:S38N	S	-	2	0	ARFGAP2	47154721	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.818000	0.86416	0.674000	0.31244	0.462000	0.41574	AGC		0.632	ARFGAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391425.1	NM_032389		10	81	0	0	0	1	0	10	81					T	47198145	C	T	47198145	3	4	180	1	0	0	0	0	1	0	0	0	850	797	28	3	1512	3	ARFGAP2	11	47198145	Missense_Mutation	SNP	C	TCGA-G9-6498-01A-12D-A30X-08	30007407	47198145	87808371	18	8455											
OR4C46	119749	broad.mit.edu	37	chr11	51515372	51515372	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcatatttgttgtgttttttGtcatctatatcatcactgtg	7	22	6	6	0	5	0	4	0	1	0	5	0	5	0	0	0	0	2	0	0	3	8			TCGA-G9-6498-01A-12D-A30X-08	TCGA-G9-6498-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e807a5d4-8642-4757-a1e6-9fc58e6f5d65	e3e7e02b-0f70-4574-8d1c-63fd5b15d3bd	g.chr11:51515372G>A	ENST00000328188.1	+	1	91	c.91G>A	c.(91-93)Gtc>Atc	p.V31I		NM_001004703.1	NP_001004703.1	A6NHA9	O4C46_HUMAN	olfactory receptor, family 4, subfamily C, member 46	31						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(5)|large_intestine(5)|lung(31)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	48						TGTGTTTTTTGTCATCTATAT	0.433																																						ENST00000328188.1																			0				endometrium(5)|large_intestine(5)|lung(31)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	48						c.(91-93)Gtc>Atc		olfactory receptor, family 4, subfamily C, member 46							202	190	194					11																	51515372		2201	4296	6497	SO:0001583	missense	119749				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:51515372G>A		CCDS73288.1	11p11.12	2012-08-09			ENSG00000185926	ENSG00000185926		"GPCR / Class A : Olfactory receptors"	31271	protein-coding gene	gene with protein product		614273					Standard	NM_001004703		Approved		uc010ric.2	A6NHA9	OTTHUMG00000166705	ENST00000328188.1:c.91G>A	11.37:g.51515372G>A	ENSP00000329056:p.Val31Ile						p.V31I	NM_001004703.1	NP_001004703.1	A6NHA9	O4C46_HUMAN			1	91	+			31						Missense_Mutation	SNP	ENST00000328188.1	37	c.91G>A	CCDS31498.1	.	.	.	.	.	.	.	.	.	.	.	0.420	-0.908609	0.02434	.	.	ENSG00000185926	ENST00000328188	T	0.00438	7.42	2.63	-5.26	0.02772	.	0.457271	0.16011	U	0.233825	T	0.00144	0.0004	N	0.13272	0.32	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.36089	-0.9762	10	0.14252	T	0.57	.	1.9122	0.03290	0.3079:0.3803:0.1844:0.1274	.	31	A6NHA9	O4C46_HUMAN	I	31	ENSP00000329056:V31I	ENSP00000329056:V31I	V	+	1	0	OR4C46	51371948	0.000000	0.05858	0.001000	0.08648	0.145000	0.21501	-4.373000	0.00244	-1.416000	0.02019	0.134000	0.15878	GTC		0.433	OR4C46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391155.1	NM_001004703		24	122	0	0	0	1	0	24	122					A	51515372	G	A	51515372	3	1	180	1	0	0	0	0	1	0	0	0	11051	1377	48	3	93	3	OR4C46	11	51515372	Missense_Mutation	SNP	G	TCGA-G9-6498-01A-12D-A30X-08	4317227	51515372	83491144	19	8456											
C11orf30	56946	broad.mit.edu	37	chr11	76247049	76247049	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcaggatgtatccagtgaaTcacaatcagctacttcaaca	15	10	6	10	0	4	1	4	1	0	0	5	2	5	2	1	1	3	2	1	1	5	3			TCGA-G9-6498-01A-12D-A30X-08	TCGA-G9-6498-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e807a5d4-8642-4757-a1e6-9fc58e6f5d65	e3e7e02b-0f70-4574-8d1c-63fd5b15d3bd	g.chr11:76247049T>G	ENST00000529032.1	+	14	2305	c.2305T>G	c.(2305-2307)Tca>Gca	p.S769A	C11orf30_ENST00000343878.3_Missense_Mutation_p.S769A|C11orf30_ENST00000525919.1_Missense_Mutation_p.S770A|C11orf30_ENST00000334736.3_Missense_Mutation_p.S769A|C11orf30_ENST00000533248.1_Intron|C11orf30_ENST00000524767.1_Missense_Mutation_p.S784A|C11orf30_ENST00000524490.1_Missense_Mutation_p.S685A|C11orf30_ENST00000525038.1_Missense_Mutation_p.S784A			Q7Z589	EMSY_HUMAN	chromosome 11 open reading frame 30	769					chromatin modification (GO:0016568)|DNA repair (GO:0006281)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(10)|liver(1)|lung(23)|ovary(5)|prostate(2)|skin(4)|stomach(1)|urinary_tract(2)	60						ATCCAGTGAATCACAATCAGC	0.403																																						ENST00000529032.1																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(10)|liver(1)|lung(23)|ovary(5)|prostate(2)|skin(4)|stomach(1)|urinary_tract(2)	60						c.(2305-2307)Tca>Gca		chromosome 11 open reading frame 30							82	72	75					11																	76247049		2200	4292	6492	SO:0001583	missense	56946				chromatin modification|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chr11:76247049T>G	AF226047	CCDS8244.1, CCDS73349.1, CCDS73350.1, CCDS73351.1	11q13.5	2010-07-01			ENSG00000158636	ENSG00000158636			18071	protein-coding gene	gene with protein product		608574					Standard	XM_005274106		Approved	EMSY	uc001oxl.3	Q7Z589	OTTHUMG00000165282	ENST00000529032.1:c.2305T>G	11.37:g.76247049T>G	ENSP00000432327:p.Ser769Ala					C11orf30_ENST00000525038.1_Missense_Mutation_p.S784A|C11orf30_ENST00000524490.1_Missense_Mutation_p.S685A|C11orf30_ENST00000533248.1_Intron|C11orf30_ENST00000334736.3_Missense_Mutation_p.S769A|C11orf30_ENST00000525919.1_Missense_Mutation_p.S770A|C11orf30_ENST00000524767.1_Missense_Mutation_p.S784A|C11orf30_ENST00000343878.3_Missense_Mutation_p.S769A	p.S769A			Q7Z589	EMSY_HUMAN			14	2305	+			769					B7ZKT8|B7ZKU0|B7ZKU2|Q17RM7|Q4G109|Q8NBU6|Q8TE50|Q9H8I9|Q9NRH0	Missense_Mutation	SNP	ENST00000529032.1	37	c.2305T>G	CCDS8244.1	.	.	.	.	.	.	.	.	.	.	T	17.10	3.302272	0.60195	.	.	ENSG00000158636	ENST00000524490;ENST00000334736;ENST00000343878;ENST00000524767;ENST00000525919;ENST00000525038;ENST00000529032	T;T;T;T;T;T;T	0.55413	0.52;0.52;0.52;0.52;0.52;0.52;0.52	5.57	4.46	0.54185	.	0.056917	0.64402	D	0.000001	T	0.33469	0.0864	L	0.27053	0.805	0.51767	D	0.999931	B;B;B;P;B;P	0.38195	0.39;0.39;0.143;0.622;0.39;0.622	B;B;B;B;B;B	0.30179	0.079;0.079;0.081;0.112;0.079;0.112	T	0.15752	-1.0426	10	0.28530	T	0.3	-6.9773	10.9228	0.47174	0.0:0.0728:0.0:0.9272	.	784;784;137;770;685;769	B7ZKU2;B7ZKU0;B3KWW8;Q17RM7;E9PMC9;Q7Z589	.;.;.;.;.;EMSY_HUMAN	A	685;769;769;784;770;784;769	ENSP00000431166:S685A;ENSP00000334130:S769A;ENSP00000344688:S769A;ENSP00000433205:S784A;ENSP00000432010:S770A;ENSP00000436968:S784A;ENSP00000432327:S769A	ENSP00000334130:S769A	S	+	1	0	C11orf30	75924697	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.456000	0.60081	2.122000	0.65172	0.528000	0.53228	TCA		0.403	C11orf30-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000383288.2	NM_020193		7	12	0	0	0	1	0	7	12					G	76247049	T	G	76247049	3	3	180	1	0	0	0	0	1	0	0	0	1636	1435	50	5	2359	5	C11orf30	11	76247049	Missense_Mutation	SNP	T	TCGA-G9-6498-01A-12D-A30X-08	24731677	76247049	58759467	20	8457											
OR8D4	338662	broad.mit.edu	37	chr11	123777442	123777442	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctggatgcatgattcagctgTtttttttctgtgtttgtgtt	4	22	10	5	0	2	1	1	1	1	0	2	2	2	2	0	1	2	5	0	1	0	7	rs79561639|rs74740497		TCGA-G9-6498-01A-12D-A30X-08	TCGA-G9-6498-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e807a5d4-8642-4757-a1e6-9fc58e6f5d65	e3e7e02b-0f70-4574-8d1c-63fd5b15d3bd	g.chr11:123777442T>C	ENST00000321355.2	+	1	334	c.304T>C	c.(304-306)Ttt>Ctt	p.F102L		NM_001005197.1	NP_001005197.1	Q8NGM9	OR8D4_HUMAN	olfactory receptor, family 8, subfamily D, member 4	102						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			large_intestine(1)|lung(16)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	25		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.93e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0409)		GATTCAGCTGTTTTTTTTCTG	0.438																																						ENST00000321355.2																			0				large_intestine(1)|lung(16)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	25						c.(304-306)Ttt>Ctt		olfactory receptor, family 8, subfamily D, member 4							229	230	229					11																	123777442		2202	4299	6501	SO:0001583	missense	338662				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:123777442T>C	AB065761	CCDS31698.1	11q24.1	2012-08-09			ENSG00000181518	ENSG00000181518		"GPCR / Class A : Olfactory receptors"	14840	protein-coding gene	gene with protein product							Standard	NM_001005197		Approved		uc010saa.2	Q8NGM9	OTTHUMG00000165960	ENST00000321355.2:c.304T>C	11.37:g.123777442T>C	ENSP00000325381:p.Phe102Leu						p.F102L	NM_001005197.1	NP_001005197.1	Q8NGM9	OR8D4_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.93e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0409)	1	334	+		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	102					Q6IFE9	Missense_Mutation	SNP	ENST00000321355.2	37	c.304T>C	CCDS31698.1	.	.	.	.	.	.	.	.	.	.	T	23.6	4.436476	0.83885	.	.	ENSG00000181518	ENST00000321355	T	0.00397	7.57	5.72	5.72	0.89469	GPCR, rhodopsin-like superfamily (1);	0.143383	0.32357	N	0.006204	T	0.00754	0.0025	M	0.66378	2.025	0.43907	D	0.996542	D	0.61080	0.989	P	0.58873	0.847	T	0.78344	-0.2240	10	0.72032	D	0.01	.	14.9719	0.71241	0.0:0.0:0.0:1.0	.	102	Q8NGM9	OR8D4_HUMAN	L	102	ENSP00000325381:F102L	ENSP00000325381:F102L	F	+	1	0	OR8D4	123282652	0.996000	0.38824	0.602000	0.28890	0.493000	0.33554	6.053000	0.71089	2.177000	0.69029	0.533000	0.62120	TTT		0.438	OR8D4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387262.1	NM_001005197		5	207	0	0	0	1	0	5	207					C	123777442	T	C	123777442	3	2	180	1	0	0	0	0	1	0	0	0	11233	1725	60	4	306	4	OR8D4	11	123777442	Missense_Mutation	SNP	T	TCGA-G9-6498-01A-12D-A30X-08	47530393	123777442	11229074	21	8458			1	20		2	2	22	N	T_A	2.238581e-05
OR8D4	338662	broad.mit.edu	37	chr11	123777463	123777463	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tttttttctgtgtttgtgttAtttctgaatgctacatgctg	5	23	8	5	0	2	1	0	1	2	0	2	1	2	1	0	0	3	4	0	0	3	7			TCGA-G9-6498-01A-12D-A30X-08	TCGA-G9-6498-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e807a5d4-8642-4757-a1e6-9fc58e6f5d65	e3e7e02b-0f70-4574-8d1c-63fd5b15d3bd	g.chr11:123777463A>C	ENST00000321355.2	+	1	355	c.325A>C	c.(325-327)Att>Ctt	p.I109L		NM_001005197.1	NP_001005197.1	Q8NGM9	OR8D4_HUMAN	olfactory receptor, family 8, subfamily D, member 4	109						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			large_intestine(1)|lung(16)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	25		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.93e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0409)		TGTTTGTGTTATTTCTGAATG	0.468																																						ENST00000321355.2																			0				large_intestine(1)|lung(16)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	25						c.(325-327)Att>Ctt		olfactory receptor, family 8, subfamily D, member 4							206	203	204					11																	123777463		2202	4299	6501	SO:0001583	missense	338662				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:123777463A>C	AB065761	CCDS31698.1	11q24.1	2012-08-09			ENSG00000181518	ENSG00000181518		"GPCR / Class A : Olfactory receptors"	14840	protein-coding gene	gene with protein product							Standard	NM_001005197		Approved		uc010saa.2	Q8NGM9	OTTHUMG00000165960	ENST00000321355.2:c.325A>C	11.37:g.123777463A>C	ENSP00000325381:p.Ile109Leu						p.I109L	NM_001005197.1	NP_001005197.1	Q8NGM9	OR8D4_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.93e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0409)	1	355	+		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	109					Q6IFE9	Missense_Mutation	SNP	ENST00000321355.2	37	c.325A>C	CCDS31698.1	.	.	.	.	.	.	.	.	.	.	A	10.30	1.310983	0.23821	.	.	ENSG00000181518	ENST00000321355	T	0.02944	4.1	5.81	3.39	0.38822	GPCR, rhodopsin-like superfamily (1);	0.000000	0.48286	D	0.000198	T	0.02533	0.0077	L	0.41079	1.255	0.09310	N	1	P	0.42785	0.79	B	0.38327	0.271	T	0.45116	-0.9283	10	0.72032	D	0.01	.	3.1743	0.06562	0.6419:0.1434:0.0767:0.1381	.	109	Q8NGM9	OR8D4_HUMAN	L	109	ENSP00000325381:I109L	ENSP00000325381:I109L	I	+	1	0	OR8D4	123282673	0.000000	0.05858	0.817000	0.32601	0.184000	0.23303	-0.157000	0.10085	1.032000	0.39892	-0.250000	0.11733	ATT		0.468	OR8D4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387262.1	NM_001005197		4	180	0	0	0	1	0	4	180					C	123777463	A	C	123777463	3	2	180	1	0	0	0	0	1	0	0	0	11233	449	16	5	327	5	OR8D4	11	123777463	Missense_Mutation	SNP	A	TCGA-G9-6498-01A-12D-A30X-08	21	123777463	11229053	22	8459			1	20		2	2	22	N	T_A	2.238581e-05
OR4D5	219875	broad.mit.edu	37	chr11	123810394	123810394	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctctcaggtttgggagcttcGgtttgttttcttcactgttt	3	20	10	8	1	3	0	2	0	2	0	5	1	3	1	0	3	1	5	0	3	0	7			TCGA-G9-6498-01A-12D-A30X-08	TCGA-G9-6498-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e807a5d4-8642-4757-a1e6-9fc58e6f5d65	e3e7e02b-0f70-4574-8d1c-63fd5b15d3bd	g.chr11:123810394G>A	ENST00000307033.2	+	1	145	c.71G>A	c.(70-72)cGg>cAg	p.R24Q		NM_001001965.1	NP_001001965.1	Q8NGN0	OR4D5_HUMAN	olfactory receptor, family 4, subfamily D, member 5	24						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		TGGGAGCTTCGGTTTGTTTTC	0.463																																						ENST00000307033.2																			0				autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						c.(70-72)cGg>cAg		olfactory receptor, family 4, subfamily D, member 5							98	94	95					11																	123810394		2202	4299	6501	SO:0001583	missense	219875				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:123810394G>A	BK004316	CCDS31699.1	11q24.1	2012-08-09			ENSG00000171014	ENSG00000171014		"GPCR / Class A : Olfactory receptors"	14852	protein-coding gene	gene with protein product							Standard	NM_001001965		Approved		uc001pzk.1	Q8NGN0	OTTHUMG00000165961	ENST00000307033.2:c.71G>A	11.37:g.123810394G>A	ENSP00000305970:p.Arg24Gln						p.R24Q	NM_001001965.1	NP_001001965.1	Q8NGN0	OR4D5_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)	1	145	+		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	24					B9EGZ4|Q6IFE6	Missense_Mutation	SNP	ENST00000307033.2	37	c.71G>A	CCDS31699.1	.	.	.	.	.	.	.	.	.	.	G	0.017	-1.495991	0.01009	.	.	ENSG00000171014	ENST00000307033	T	0.00211	8.54	5.27	3.39	0.38822	.	0.325829	0.22061	N	0.065174	T	0.00039	0.0001	N	0.00670	-1.27	0.09310	N	1	B	0.26147	0.143	B	0.20384	0.029	T	0.14420	-1.0473	10	0.02654	T	1	-7.0026	7.9326	0.29912	0.2791:0.0:0.7209:0.0	.	24	Q8NGN0	OR4D5_HUMAN	Q	24	ENSP00000305970:R24Q	ENSP00000305970:R24Q	R	+	2	0	OR4D5	123315604	0.002000	0.14202	0.095000	0.20976	0.512000	0.34134	1.244000	0.32778	1.211000	0.43351	0.650000	0.86243	CGG		0.463	OR4D5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387263.1	NM_001001965		13	67	0	0	0	1	0	13	67					A	123810394	G	A	123810394	3	1	180	1	0	0	0	0	1	0	0	0	11057	1116	39	2	73	2	OR4D5	11	123810394	Missense_Mutation	SNP	G	TCGA-G9-6498-01A-12D-A30X-08	32931	123810394	11196122	23	8460											
ETNK1	55500	broad.mit.edu	37	chr12	22796887	22796887	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ctactgtaccttcaataatgGactatgctatgaatttatac	13	15	5	8	0	1	1	1	1	0	0	1	2	1	2	1	1	4	2	1	1	9	9			TCGA-G9-6498-01A-12D-A30X-08	TCGA-G9-6498-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e807a5d4-8642-4757-a1e6-9fc58e6f5d65	e3e7e02b-0f70-4574-8d1c-63fd5b15d3bd	g.chr12:22796887G>A	ENST00000266517.4	+	2	703	c.614G>A	c.(613-615)gGa>gAa	p.G205E	ETNK1_ENST00000335148.3_Missense_Mutation_p.G205E	NM_018638.4	NP_061108.2	Q9HBU6	EKI1_HUMAN	ethanolamine kinase 1	205					glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|membrane (GO:0016020)	ATP binding (GO:0005524)|ethanolamine kinase activity (GO:0004305)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(6)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						TTCAATAATGGACTATGCTAT	0.403																																					Esophageal Squamous(42;87 913 3224 6226 43339)	ENST00000266517.4																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(6)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						c.(613-615)gGa>gAa		ethanolamine kinase 1							135	117	123					12																	22796887		2203	4299	6502	SO:0001583	missense	55500				phosphatidylethanolamine biosynthetic process	cytoplasm	ATP binding|ethanolamine kinase activity	g.chr12:22796887G>A	BC006111	CCDS8698.1, CCDS41760.1	12p12.2	2004-07-09			ENSG00000139163	ENSG00000139163			24649	protein-coding gene	gene with protein product		609858				11912161, 11044454	Standard	XM_005253420		Approved	EKI1, EKI	uc001rft.3	Q9HBU6	OTTHUMG00000169008	ENST00000266517.4:c.614G>A	12.37:g.22796887G>A	ENSP00000266517:p.Gly205Glu					ETNK1_ENST00000335148.3_Missense_Mutation_p.G205E	p.G205E	NM_018638.4	NP_061108.2	Q9HBU6	EKI1_HUMAN			2	703	+			205					G5E969	Missense_Mutation	SNP	ENST00000266517.4	37	c.614G>A	CCDS8698.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	23.6|23.6	4.437712|4.437712	0.83885|0.83885	.|.	.|.	ENSG00000139163|ENSG00000139163	ENST00000538218;ENST00000541247|ENST00000266517;ENST00000381409;ENST00000335148	.|T;T	.|0.61274	.|0.12;0.12	5.36|5.36	4.47|4.47	0.54385|0.54385	.|Protein kinase-like domain (1);Choline/ethanolamine kinase (1);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.83760|0.83760	0.5324|0.5324	H|H	0.97265|0.97265	3.97|3.97	0.58432|0.58432	D|D	0.999999|0.999999	.|D;D;D	.|0.89917	.|1.0;1.0;1.0	.|D;D;D	.|0.97110	.|0.999;0.999;1.0	D|D	0.89301|0.89301	0.3626|0.3626	5|10	.|0.87932	.|D	.|0	-11.2766|-11.2766	13.9098|13.9098	0.63860|0.63860	0.0731:0.0:0.9269:0.0|0.0731:0.0:0.9269:0.0	.|.	.|205;205;205	.|E9PD44;Q9HBU6;G5E969	.|.;EKI1_HUMAN;.	N|E	196;85|205	.|ENSP00000266517:G205E;ENSP00000334041:G205E	.|ENSP00000266517:G205E	D|G	+|+	1|2	0|0	ETNK1|ETNK1	22688154|22688154	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.985000|0.985000	0.73830|0.73830	8.946000|8.946000	0.92992|0.92992	1.399000|1.399000	0.46721|0.46721	0.557000|0.557000	0.71058|0.71058	GAC|GGA		0.403	ETNK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401926.2	NM_018638		26	106	0	0	0	1	0	26	106					A	22796887	G	A	22796887	3	1	180	1	0	0	0	0	1	0	0	0	5273	1174	41	3	620	3	ETNK1	12	22796887	Missense_Mutation	SNP	G	TCGA-G9-6498-01A-12D-A30X-08		22796887	111055008	24	8461											
FOXG1	2290	broad.mit.edu	37	chr14	29237113	29237113	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cgctcaacggcatctacgagTtcatcatgaagaacttccct	11	10	7	13	3	4	2	3	1	1	1	5	3	5	2	1	1	3	3	1	1	4	3			TCGA-G9-6498-01A-12D-A30X-08	TCGA-G9-6498-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e807a5d4-8642-4757-a1e6-9fc58e6f5d65	e3e7e02b-0f70-4574-8d1c-63fd5b15d3bd	g.chr14:29237113T>C	ENST00000313071.4	+	1	827	c.628T>C	c.(628-630)Ttc>Ctc	p.F210L	RP11-966I7.1_ENST00000546560.1_RNA|RP11-966I7.1_ENST00000551395.1_RNA|FOXG1_ENST00000382535.3_Missense_Mutation_p.F210L|RP11-966I7.1_ENST00000549487.1_RNA	NM_005249.4	NP_005240.3	P55316	FOXG1_HUMAN	forkhead box G1	210					aging (GO:0007568)|axon midline choice point recognition (GO:0016199)|brain development (GO:0007420)|dorsal/ventral pattern formation (GO:0009953)|inner ear morphogenesis (GO:0042472)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron fate determination (GO:0048664)|positive regulation of cell cycle (GO:0045787)|positive regulation of neuroblast proliferation (GO:0002052)|pyramidal neuron migration (GO:0021852)|regulation of mitotic cell cycle (GO:0007346)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(2)	43			LUAD - Lung adenocarcinoma(48;0.011)|Lung(238;0.0575)	GBM - Glioblastoma multiforme(265;0.00413)		CATCTACGAGTTCATCATGAA	0.572																																						ENST00000382535.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(2)	43						c.(628-630)Ttc>Ctc		forkhead box G1							57	54	55					14																	29237113		2203	4300	6503	SO:0001583	missense	2290				axon midline choice point recognition|central nervous system neuron development|dorsal/ventral pattern formation|embryo development ending in birth or egg hatching|hindbrain development|inner ear morphogenesis|negative regulation of neuron differentiation|negative regulation of transcription, DNA-dependent|nonmotile primary cilium assembly|nose development|positive regulation of cell cycle|positive regulation of neuroblast proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of mitotic cell cycle|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chr14:29237113T>C		CCDS9636.1	14q11-q13	2007-10-05	2007-05-16	2007-05-16	ENSG00000176165	ENSG00000176165		"Forkhead boxes"	3811	protein-coding gene	gene with protein product		164874	"forkhead box G1B", "forkhead box G1C", "forkhead box G1A"	FKHL2, FOXG1B, FKHL4, FKH2, FKHL1, FOXG1C, FKHL3, FOXG1A		7959731, 17260156	Standard	NM_005249		Approved	HFK2, QIN, BF1, HFK1, HFK3, HBF-3	uc001wqe.4	P55316	OTTHUMG00000140187	ENST00000313071.4:c.628T>C	14.37:g.29237113T>C	ENSP00000339004:p.Phe210Leu					FOXG1_ENST00000313071.4_Missense_Mutation_p.F210L	p.F210L			P55316	FOXG1_HUMAN	LUAD - Lung adenocarcinoma(48;0.011)|Lung(238;0.0575)	GBM - Glioblastoma multiforme(265;0.00413)	2	997	+			210					A6NFY2|P55315|Q14488|Q86XT7	Missense_Mutation	SNP	ENST00000313071.4	37	c.628T>C	CCDS9636.1	.	.	.	.	.	.	.	.	.	.	T	27.4	4.828961	0.90955	.	.	ENSG00000176165	ENST00000382535;ENST00000313071	D;D	0.95690	-3.78;-3.78	3.69	3.69	0.42338	Winged helix-turn-helix transcription repressor DNA-binding (1);Transcription factor, fork head (4);	0.000000	0.85682	U	0.000000	D	0.96920	0.8994	M	0.72479	2.2	0.58432	D	0.999994	D	0.76494	0.999	D	0.76071	0.987	D	0.96981	0.9715	10	0.72032	D	0.01	.	12.0511	0.53507	0.0:0.0:0.0:1.0	.	210	P55316	FOXG1_HUMAN	L	210	ENSP00000371975:F210L;ENSP00000339004:F210L	ENSP00000339004:F210L	F	+	1	0	FOXG1	28306864	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	7.895000	0.87343	1.306000	0.44926	0.254000	0.18369	TTC		0.572	FOXG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276559.3			14	47	0	0	0	1	0	14	47					C	29237113	T	C	29237113	3	2	180	1	0	0	0	0	1	0	0	0	6007	1725	60	4	630	4	FOXG1	14	29237113	Missense_Mutation	SNP	T	TCGA-G9-6498-01A-12D-A30X-08		29237113	78112427	25	8462											
SMOC1	64093	broad.mit.edu	37	chr14	70477514	70477514	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gagaggcagagtgccctggaAgaggcccagcagaatccccg	11	3	15	12	1	0	4	0	0	0	4	1	6	1	5	4	3	2	2	4	3	2	0			TCGA-G9-6498-01A-12D-A30X-08	TCGA-G9-6498-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e807a5d4-8642-4757-a1e6-9fc58e6f5d65	e3e7e02b-0f70-4574-8d1c-63fd5b15d3bd	g.chr14:70477514A>G	ENST00000381280.4	+	8	961	c.708A>G	c.(706-708)gaA>gaG	p.E236E	SMOC1_ENST00000361956.3_Silent_p.E236E	NM_001034852.2|NM_022137.5	NP_001030024.1|NP_071420.1	Q9H4F8	SMOC1_HUMAN	SPARC related modular calcium binding 1	236	Thyroglobulin type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00500}.				cell differentiation (GO:0030154)|extracellular matrix organization (GO:0030198)|eye development (GO:0001654)|limb development (GO:0060173)|positive regulation of cell-substrate adhesion (GO:0010811)|regulation of osteoblast differentiation (GO:0045667)|signal transduction (GO:0007165)	basement membrane (GO:0005604)	calcium ion binding (GO:0005509)|extracellular matrix binding (GO:0050840)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	21				all cancers(60;0.00417)|BRCA - Breast invasive adenocarcinoma(234;0.0119)|OV - Ovarian serous cystadenocarcinoma(108;0.028)		GTGCCCTGGAAGAGGCCCAGC	0.537																																						ENST00000381280.4																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	21						c.(706-708)gaA>gaG		SPARC related modular calcium binding 1							115	121	119					14																	70477514		2203	4300	6503	SO:0001819	synonymous_variant	64093				cell differentiation|eye development|limb development|regulation of osteoblast differentiation|signal transduction	basement membrane	calcium ion binding	g.chr14:70477514A>G	AJ249900	CCDS9798.1, CCDS32110.1	14q24.1	2010-08-05			ENSG00000198732	ENSG00000198732			20318	protein-coding gene	gene with protein product		608488				12130637	Standard	NM_001034852		Approved		uc001xlt.2	Q9H4F8		ENST00000381280.4:c.708A>G	14.37:g.70477514A>G						SMOC1_ENST00000361956.3_Silent_p.E236E	p.E236E	NM_001034852.2|NM_022137.5	NP_001030024.1|NP_071420.1	Q9H4F8	SMOC1_HUMAN		all cancers(60;0.00417)|BRCA - Breast invasive adenocarcinoma(234;0.0119)|OV - Ovarian serous cystadenocarcinoma(108;0.028)	8	961	+			236			Thyroglobulin type-1 2.		A8K1S3|B2R7P5|Q96F78	Silent	SNP	ENST00000381280.4	37	c.708A>G	CCDS9798.1																																																																																				0.537	SMOC1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000412467.1			39	111	0	0	0	1	0	39	111					G	70477514	A	G	70477514	2	3	180	1	0	0	0	0	0	0	0	1	14801	69	3	4		4	SMOC1	14	70477514	Silent	SNP	A	TCGA-G9-6498-01A-12D-A30X-08	41240401	70477514	36872026	26	8463											
EEF2K	29904	broad.mit.edu	37	chr16	22268698	22268698	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gggcactgactttggagacgGcaacctaggtacgtggggaa	10	7	16	8	2	0	2	0	1	0	1	0	4	0	3	1	6	2	3	1	6	4	3			TCGA-G9-6498-01A-12D-A30X-08	TCGA-G9-6498-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e807a5d4-8642-4757-a1e6-9fc58e6f5d65	e3e7e02b-0f70-4574-8d1c-63fd5b15d3bd	g.chr16:22268698G>A	ENST00000263026.5	+	8	1367	c.893G>A	c.(892-894)gGc>gAc	p.G298D		NM_013302.3	NP_037434	O00418	EF2K_HUMAN	eukaryotic elongation factor-2 kinase	298	Alpha-type protein kinase. {ECO:0000255|PROSITE-ProRule:PRU00501}.				insulin receptor signaling pathway (GO:0008286)|protein autophosphorylation (GO:0046777)|regulation of protein autophosphorylation (GO:0031952)|translational elongation (GO:0006414)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|elongation factor-2 kinase activity (GO:0004686)|protein kinase activity (GO:0004672)|translation factor activity, nucleic acid binding (GO:0008135)			breast(1)|central_nervous_system(1)|endometrium(8)|large_intestine(2)|lung(13)|ovary(1)|prostate(1)|skin(2)	29				GBM - Glioblastoma multiforme(48;0.0223)		TTTGGAGACGGCAACCTAGGT	0.557																																					NSCLC(195;1411 2157 20319 27471 51856)	ENST00000263026.5																			0				breast(1)|central_nervous_system(1)|endometrium(8)|large_intestine(2)|lung(13)|ovary(1)|prostate(1)|skin(2)	29						c.(892-894)gGc>gAc		eukaryotic elongation factor-2 kinase							117	93	101					16																	22268698		2197	4300	6497	SO:0001583	missense	29904				insulin receptor signaling pathway|translational elongation	cytosol	ATP binding|calcium ion binding|calmodulin binding|elongation factor-2 kinase activity|translation factor activity, nucleic acid binding	g.chr16:22268698G>A	U93850	CCDS10604.1	16p12	2008-02-05			ENSG00000103319	ENSG00000103319			24615	protein-coding gene	gene with protein product		606968				9144159, 12051769	Standard	NM_013302		Approved	eEF-2K	uc002dki.3	O00418	OTTHUMG00000094771	ENST00000263026.5:c.893G>A	16.37:g.22268698G>A	ENSP00000263026:p.Gly298Asp						p.G298D	NM_013302.3	NP_037434.1	O00418	EF2K_HUMAN		GBM - Glioblastoma multiforme(48;0.0223)	8	1367	+			298			Alpha-type protein kinase.		Q8N588	Missense_Mutation	SNP	ENST00000263026.5	37	c.893G>A	CCDS10604.1	.	.	.	.	.	.	.	.	.	.	G	34	5.393486	0.96009	.	.	ENSG00000103319	ENST00000263026	T	0.08282	3.11	5.87	5.87	0.94306	MHCK/EF2 kinase (3);Protein kinase-like domain (1);	0.000000	0.85682	D	0.000000	T	0.44117	0.1278	H	0.94385	3.53	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.57015	-0.7883	10	0.87932	D	0	-11.4961	20.2191	0.98319	0.0:0.0:1.0:0.0	.	298	O00418	EF2K_HUMAN	D	298	ENSP00000263026:G298D	ENSP00000263026:G298D	G	+	2	0	EEF2K	22176199	1.000000	0.71417	1.000000	0.80357	0.927000	0.56198	9.211000	0.95120	2.780000	0.95670	0.655000	0.94253	GGC		0.557	EEF2K-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211580.2	NM_013302		4	100	0	0	0	1	0	4	100					A	22268698	G	A	22268698	3	1	180	1	0	0	0	0	1	0	0	0	4930	1203	42	3	919	3	EEF2K	16	22268698	Missense_Mutation	SNP	G	TCGA-G9-6498-01A-12D-A30X-08		22268698	68086055	27	8464											
ABCC12	94160	broad.mit.edu	37	chr16	48139193	48139193	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cacatgctgaccgatgtctgCcagcaccgcgccgacctcac	8	6	9	18	4	2	1	1	1	1	0	2	3	2	1	5	0	3	2	5	0	0	0			TCGA-G9-6498-01A-12D-A30X-08	TCGA-G9-6498-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e807a5d4-8642-4757-a1e6-9fc58e6f5d65	e3e7e02b-0f70-4574-8d1c-63fd5b15d3bd	g.chr16:48139193C>T	ENST00000311303.3	-	19	2875	c.2530G>A	c.(2530-2532)Gca>Aca	p.A844T	ABCC12_ENST00000416054.1_3'UTR|ABCC12_ENST00000448542.1_Missense_Mutation_p.A841T	NM_033226.2	NP_150229.2	Q96J65	MRP9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 12	844	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.					integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)			NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1)	90		all_cancers(37;0.0474)|all_lung(18;0.047)				CCGATGTCTGCCAGCACCGCG	0.532																																						ENST00000311303.3																			0				NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1)	90						c.(2530-2532)Gca>Aca		ATP-binding cassette, sub-family C (CFTR/MRP), member 12							148	103	119					16																	48139193		2201	4300	6501	SO:0001583	missense	94160					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr16:48139193C>T	AY040220	CCDS10730.1	16q12.1	2012-03-14			ENSG00000140798	ENSG00000140798		"ATP binding cassette transporters / subfamily C"	14640	protein-coding gene	gene with protein product		607041				11435397, 11483364	Standard	NM_033226		Approved	MRP9	uc002efc.1	Q96J65	OTTHUMG00000133143	ENST00000311303.3:c.2530G>A	16.37:g.48139193C>T	ENSP00000311030:p.Ala844Thr					ABCC12_ENST00000416054.1_3'UTR|ABCC12_ENST00000448542.1_Missense_Mutation_p.A841T	p.A844T	NM_033226.2	NP_150229.2	Q96J65	MRP9_HUMAN			19	2875	-		all_cancers(37;0.0474)|all_lung(18;0.047)	844			ABC transmembrane type-1 2.		Q49AL2|Q8TAF0|Q8TEY2	Missense_Mutation	SNP	ENST00000311303.3	37	c.2530G>A	CCDS10730.1	.	.	.	.	.	.	.	.	.	.	C	10.38	1.333274	0.24167	.	.	ENSG00000140798	ENST00000311303;ENST00000448542;ENST00000449939	T;T	0.46063	0.88;0.88	5.21	1.92	0.25849	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.787341	0.11737	N	0.534393	T	0.19167	0.0460	N	0.03071	-0.42	0.09310	N	0.999999	B	0.06786	0.001	B	0.12156	0.007	T	0.18053	-1.0349	10	0.39692	T	0.17	.	8.7747	0.34753	0.0:0.6176:0.297:0.0854	.	844	Q96J65	MRP9_HUMAN	T	844;841;762	ENSP00000311030:A844T;ENSP00000401855:A841T	ENSP00000311030:A844T	A	-	1	0	ABCC12	46696694	0.000000	0.05858	0.008000	0.14137	0.026000	0.11368	0.594000	0.24014	1.131000	0.42111	0.655000	0.94253	GCA		0.532	ABCC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256837.1	NM_033226		12	15	0	0	0	1	0	12	15					T	48139193	C	T	48139193	3	4	180	1	0	0	0	0	1	0	0	0	52	739	26	3	1593	3	ABCC12	16	48139193	Missense_Mutation	SNP	C	TCGA-G9-6498-01A-12D-A30X-08	25870495	48139193	42215560	28	8465											
CACNA1G	8913	broad.mit.edu	37	chr17	48685232	48685232	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atgctgctgtacttcatctcGttcctgctcattgtggcctt	4	17	8	12	1	3	0	2	0	1	0	5	0	4	0	2	1	4	5	2	1	1	5	rs370754259		TCGA-G9-6498-01A-12D-A30X-08	TCGA-G9-6498-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e807a5d4-8642-4757-a1e6-9fc58e6f5d65	e3e7e02b-0f70-4574-8d1c-63fd5b15d3bd	g.chr17:48685232G>A	ENST00000359106.5	+	25	4557	c.4557G>A	c.(4555-4557)tcG>tcA	p.S1519S	CACNA1G_ENST00000505165.1_Silent_p.S1519S|CACNA1G_ENST00000515411.1_Silent_p.S1519S|CACNA1G_ENST00000512389.1_Silent_p.S1519S|CACNA1G_ENST00000515765.1_Silent_p.S1519S|CACNA1G_ENST00000507510.2_Silent_p.S1519S|CACNA1G_ENST00000502264.1_Silent_p.S1496S|CACNA1G_ENST00000507336.1_Silent_p.S1519S|CACNA1G_ENST00000510115.1_Silent_p.S1496S|CACNA1G_ENST00000507896.1_Silent_p.S1519S|CACNA1G_ENST00000358244.5_Silent_p.S1496S|CACNA1G_ENST00000510366.1_Intron|CACNA1G_ENST00000360761.4_Silent_p.S1496S|CACNA1G_ENST00000514717.1_Intron|CACNA1G_ENST00000429973.2_Silent_p.S1519S|CACNA1G_ENST00000354983.4_Silent_p.S1496S|CACNA1G_ENST00000515165.1_Silent_p.S1519S|CACNA1G_ENST00000514181.1_Silent_p.S1519S|CACNA1G_ENST00000352832.5_Silent_p.S1496S|CACNA1G_ENST00000514079.1_Silent_p.S1519S|CACNA1G_ENST00000442258.2_Silent_p.S1496S|CACNA1G_ENST00000513964.1_Intron|CACNA1G_ENST00000507609.1_Silent_p.S1519S|CACNA1G_ENST00000503485.1_Intron|CACNA1G_ENST00000513689.2_Intron	NM_018896.4	NP_061496.2	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit	1519					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|membrane depolarization during action potential (GO:0086010)|positive regulation of calcium ion-dependent exocytosis (GO:0045956)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of heart rate (GO:0002027)|regulation of membrane potential (GO:0042391)|response to nickel cation (GO:0010045)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	low voltage-gated calcium channel activity (GO:0008332)|scaffold protein binding (GO:0097110)			breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Cinnarizine(DB00568)|Ethosuximide(DB00593)|Flunarizine(DB04841)|Methsuximide(DB05246)|Spironolactone(DB00421)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	ACTTCATCTCGTTCCTGCTCA	0.577																																						ENST00000352832.5																			0				breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47						c.(4486-4488)tcG>tcA		calcium channel, voltage-dependent, T type, alpha 1G subunit	Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	G	,,,,,,,,,,,,,	0,4256		0,0,2128	189	186	187		4557,4488,4488,4557,4488,4557,4488,4488,4557,4557,4557,4488,4488,4488	0.6	1	17		187	1,8465		0,1,4232	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	CACNA1G	NM_018896.3,NM_198376.1,NM_198377.1,NM_198378.1,NM_198379.1,NM_198380.1,NM_198382.1,NM_198383.1,NM_198384.1,NM_198385.1,NM_198386.1,NM_198387.1,NM_198388.1,NM_198396.1	,,,,,,,,,,,,,	0,1,6360	AA,AG,GG		0.0118,0.0,0.0079	,,,,,,,,,,,,,	1519/2378,1496/2172,1496/2355,1519/2274,1496/2299,1519/2322,1496/2262,1496/2307,1519/2285,1519/2333,1519/2267,1496/2251,1496/2244,1496/2344	48685232	1,12721	2128	4233	6361	SO:0001819	synonymous_variant	8913				axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity	g.chr17:48685232G>A	AC004590	CCDS45730.1, CCDS45731.1, CCDS45732.1, CCDS45733.1, CCDS45734.1, CCDS45735.1, CCDS45736.1, CCDS45737.1, CCDS54142.1, CCDS54143.1, CCDS54144.1, CCDS54145.1, CCDS54146.1, CCDS58565.1, CCDS58566.1, CCDS58567.1, CCDS58568.1, CCDS58569.1, CCDS58570.1, CCDS58571.1, CCDS58572.1, CCDS58573.1, CCDS58574.1, CCDS58575.1, CCDS58576.1	17q22	2012-03-07	2007-02-16		ENSG00000006283	ENSG00000006283		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1394	protein-coding gene	gene with protein product		604065				9495342, 16382099	Standard	NM_001256334		Approved	Cav3.1, NBR13	uc002irk.2	O43497	OTTHUMG00000162180	ENST00000359106.5:c.4557G>A	17.37:g.48685232G>A						CACNA1G_ENST00000358244.5_Silent_p.S1496S|CACNA1G_ENST00000502264.1_Silent_p.S1496S|CACNA1G_ENST00000442258.2_Silent_p.S1496S|CACNA1G_ENST00000354983.4_Silent_p.S1496S|CACNA1G_ENST00000507896.1_Silent_p.S1519S|CACNA1G_ENST00000515411.1_Silent_p.S1519S|CACNA1G_ENST00000514181.1_Silent_p.S1519S|CACNA1G_ENST00000513689.2_Intron|CACNA1G_ENST00000514079.1_Silent_p.S1519S|CACNA1G_ENST00000514717.1_Intron|CACNA1G_ENST00000503485.1_Intron|CACNA1G_ENST00000515165.1_Silent_p.S1519S|CACNA1G_ENST00000515765.1_Silent_p.S1519S|CACNA1G_ENST00000510366.1_Intron|CACNA1G_ENST00000510115.1_Silent_p.S1496S|CACNA1G_ENST00000429973.2_Silent_p.S1519S|CACNA1G_ENST00000507510.2_Silent_p.S1519S|CACNA1G_ENST00000513964.1_Intron|CACNA1G_ENST00000507336.1_Silent_p.S1519S|CACNA1G_ENST00000360761.4_Silent_p.S1496S|CACNA1G_ENST00000507609.1_Silent_p.S1519S|CACNA1G_ENST00000512389.1_Silent_p.S1519S|CACNA1G_ENST00000359106.5_Silent_p.S1519S|CACNA1G_ENST00000505165.1_Silent_p.S1519S	p.S1496S	NM_001256334.1|NM_198376.2|NM_198379.2|NM_198387.2|NM_198388.2	NP_001243263.1|NP_938190.1|NP_938193.1|NP_938201.1|NP_938202.1	O43497	CAC1G_HUMAN	BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		24	4860	+	Breast(11;6.7e-17)		1519					D6RA64|E7EPR0|O43498|O94770|Q19QY8|Q19QY9|Q19QZ0|Q19QZ1|Q19QZ2|Q19QZ3|Q19QZ4|Q19QZ5|Q19QZ6|Q19QZ7|Q19QZ8|Q19QZ9|Q19R00|Q19R01|Q19R02|Q19R03|Q19R04|Q19R05|Q19R06|Q19R07|Q19R08|Q19R09|Q19R10|Q19R11|Q19R12|Q19R13|Q19R15|Q19R16|Q19R17|Q19R18|Q2TAC4|Q9NYU4|Q9NYU5|Q9NYU6|Q9NYU7|Q9NYU8|Q9NYU9|Q9NYV0|Q9NYV1|Q9UHN9|Q9UHP0|Q9ULU6|Q9UNG7|Q9Y5T2|Q9Y5T3	Silent	SNP	ENST00000359106.5	37	c.4488G>A	CCDS45730.1																																																																																				0.577	CACNA1G-013	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000367895.1	NM_018896		12	81	0	0	0	1	0	12	81					A	48685232	G	A	48685232	2	1	180	1	0	0	0	0	0	0	0	1	2544	1132	40	1		1	CACNA1G	17	48685232	Silent	SNP	G	TCGA-G9-6498-01A-12D-A30X-08		48685232	32509978	29	8466											
SLC16A6	9120	broad.mit.edu	37	chr17	66267712	66267712	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgggtctgagcagtgctcCgaagatgacaatgtttaact	11	11	12	7	1	1	3	0	2	1	1	2	5	2	3	1	1	3	3	1	1	3	2			TCGA-G9-6498-01A-12D-A30X-08	TCGA-G9-6498-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e807a5d4-8642-4757-a1e6-9fc58e6f5d65	e3e7e02b-0f70-4574-8d1c-63fd5b15d3bd	g.chr17:66267712C>T	ENST00000327268.4	-	6	753	c.589G>A	c.(589-591)Gga>Aga	p.G197R	ARSG_ENST00000448504.2_Intron|SLC16A6_ENST00000580666.1_Missense_Mutation_p.G197R	NM_001174166.1	NP_001167637.1	O15403	MOT7_HUMAN	solute carrier family 16, member 6	197					monocarboxylic acid transport (GO:0015718)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	monocarboxylic acid transmembrane transporter activity (GO:0008028)|symporter activity (GO:0015293)			large_intestine(3)|lung(8)|prostate(1)|skin(1)|urinary_tract(2)	15	all_cancers(12;1.24e-09)		BRCA - Breast invasive adenocarcinoma(8;3.17e-08)|LUSC - Lung squamous cell carcinoma(166;0.24)		Pyruvic acid(DB00119)	AGCAGTGCTCCGAAGATGACA	0.473																																						ENST00000327268.4																			0				large_intestine(3)|lung(8)|prostate(1)|skin(1)|urinary_tract(2)	15						c.(589-591)Gga>Aga		solute carrier family 16, member 6	Pyruvic acid(DB00119)						100	95	97					17																	66267712		2203	4300	6503	SO:0001583	missense	9120					integral to plasma membrane|membrane fraction	monocarboxylic acid transmembrane transporter activity|symporter activity	g.chr17:66267712C>T	U79745	CCDS11675.1	17q24.2	2013-07-18	2013-07-18		ENSG00000108932	ENSG00000108932		"Solute carriers"	10927	protein-coding gene	gene with protein product		603880	"solute carrier family 16 (monocarboxylic acid transporters), member 6", "solute carrier family 16, member 6 (monocarboxylic acid transporter 7)"			9425115	Standard	NM_004694		Approved	MCT6, MCT7	uc002jgz.2	O15403	OTTHUMG00000179812	ENST00000327268.4:c.589G>A	17.37:g.66267712C>T	ENSP00000319991:p.Gly197Arg					SLC16A6_ENST00000580666.1_Missense_Mutation_p.G197R|ARSG_ENST00000448504.2_Intron	p.G197R	NM_001174166.1	NP_001167637.1	O15403	MOT7_HUMAN	BRCA - Breast invasive adenocarcinoma(8;3.17e-08)|LUSC - Lung squamous cell carcinoma(166;0.24)		6	753	-	all_cancers(12;1.24e-09)		197					Q6P1X3	Missense_Mutation	SNP	ENST00000327268.4	37	c.589G>A	CCDS11675.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.106383	0.77096	.	.	ENSG00000108932	ENST00000327268	T	0.59364	0.27	4.33	4.33	0.51752	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.110120	0.64402	D	0.000007	T	0.80171	0.4574	M	0.90082	3.085	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.85321	0.1084	10	0.87932	D	0	.	15.9884	0.80179	0.0:1.0:0.0:0.0	.	197	O15403	MOT7_HUMAN	R	197	ENSP00000319991:G197R	ENSP00000319991:G197R	G	-	1	0	SLC16A6	63779307	1.000000	0.71417	0.287000	0.24848	0.732000	0.41865	7.348000	0.79366	2.215000	0.71742	0.484000	0.47621	GGA		0.473	SLC16A6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448323.1	NM_004694		4	64	0	0	0	1	0	4	64					T	66267712	C	T	66267712	3	4	180	1	0	0	0	0	1	0	0	0	14412	661	23	2	990	2	SLC16A6	17	66267712	Missense_Mutation	SNP	C	TCGA-G9-6498-01A-12D-A30X-08	17582480	66267712	14927498	30	8467											
CLEC11A	6320	broad.mit.edu	37	chr19	51227212	51227212	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggaggggggatgagaatccTgccggaactgttgagggaaa	11	6	19	5	1	0	2	0	2	0	1	1	7	1	6	2	6	2	1	2	6	3	1			TCGA-G9-6498-01A-12D-A30X-08	TCGA-G9-6498-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e807a5d4-8642-4757-a1e6-9fc58e6f5d65	e3e7e02b-0f70-4574-8d1c-63fd5b15d3bd	g.chr19:51227212T>G	ENST00000250340.4	+	2	395	c.198T>G	c.(196-198)ccT>ccG	p.P66P	CLEC11A_ENST00000599973.1_Silent_p.P66P	NM_002975.2	NP_002966.1	Q9Y240	CLC11_HUMAN	C-type lectin domain family 11, member A	66					positive regulation of cell proliferation (GO:0008284)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	carbohydrate binding (GO:0030246)|growth factor activity (GO:0008083)			kidney(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	7		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028)		ATGAGAATCCTGCCGGAACTG	0.652											OREG0025643	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000250340.4																			0				kidney(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	7						c.(196-198)ccT>ccG		C-type lectin domain family 11, member A							34	38	37					19																	51227212		2203	4300	6503	SO:0001819	synonymous_variant	6320				positive regulation of cell proliferation	cytoplasm|extracellular region	growth factor activity|sugar binding	g.chr19:51227212T>G	AF087658	CCDS12800.1	19q13.3	2010-04-27	2005-02-09	2005-02-11		ENSG00000105472		"C-type lectin domain containing"	10576	protein-coding gene	gene with protein product		604713	"stem cell growth factor; lymphocyte secreted C-type lectin"	SCGF		9207134, 9442024	Standard	NM_002975		Approved	P47, LSLCL, CLECSF3	uc002psy.3	Q9Y240		ENST00000250340.4:c.198T>G	19.37:g.51227212T>G			OREG0025643	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	975	CLEC11A_ENST00000599973.1_Silent_p.P66P	p.P66P	NM_002975.2	NP_002966.1	Q9Y240	CLC11_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028)	2	395	+		all_neural(266;0.057)	66					B2RAD4	Silent	SNP	ENST00000250340.4	37	c.198T>G	CCDS12800.1																																																																																				0.652	CLEC11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464062.1	NM_002975		9	24	0	0	0	1	0	9	24					G	51227212	T	G	51227212	2	3	180	1	0	0	0	0	0	0	0	1	3496	1567	55	5		5	CLEC11A	19	51227212	Silent	SNP	T	TCGA-G9-6498-01A-12D-A30X-08		51227212	7901771	31	8468											
KLK5	25818	broad.mit.edu	37	chr19	51451965	51451965	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctatctgtctcgggtaagcAtcctcgcaccttttctgact	6	15	7	13	2	4	1	0	1	4	0	7	1	5	1	2	1	1	3	2	1	2	4			TCGA-G9-6498-01A-12D-A30X-08	TCGA-G9-6498-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e807a5d4-8642-4757-a1e6-9fc58e6f5d65	e3e7e02b-0f70-4574-8d1c-63fd5b15d3bd	g.chr19:51451965A>G	ENST00000336334.3	-	5	1009	c.657T>C	c.(655-657)gaT>gaC	p.D219D	CTB-147C22.8_ENST00000594939.1_RNA|KLK5_ENST00000391809.2_Silent_p.D219D|CTB-147C22.8_ENST00000601506.1_RNA|KLK5_ENST00000593428.1_Silent_p.D219D	NM_012427.4	NP_036559	Q9Y337	KLK5_HUMAN	kallikrein-related peptidase 5	219	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				epidermis development (GO:0008544)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)	epidermal lamellar body (GO:0097209)|extracellular space (GO:0005615)	peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			NS(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(1)	15		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00379)|GBM - Glioblastoma multiforme(134;0.00888)		TCGGGTAAGCATCCTCGCACC	0.493																																						ENST00000336334.3																			0				NS(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(1)	15						c.(655-657)gaT>gaC		kallikrein-related peptidase 5							165	133	144					19																	51451965		2203	4300	6503	SO:0001819	synonymous_variant	25818				epidermis development|positive regulation of G-protein coupled receptor protein signaling pathway|proteolysis	extracellular space	protein binding|serine-type endopeptidase activity	g.chr19:51451965A>G	AF135028	CCDS12810.1	19q13.33	2008-02-05	2006-10-27			ENSG00000167754		"Kallikreins"	6366	protein-coding gene	gene with protein product		605643	"kallikrein 5"			10514489, 10608802, 1680072, 4, 16800723, 17012259	Standard	NM_012427		Approved	SCTE, KLK-L2	uc002puf.3	Q9Y337		ENST00000336334.3:c.657T>C	19.37:g.51451965A>G						KLK5_ENST00000593428.1_Silent_p.D219D|KLK5_ENST00000391809.2_Silent_p.D219D	p.D219D	NM_012427.4	NP_036559.1	Q9Y337	KLK5_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00379)|GBM - Glioblastoma multiforme(134;0.00888)	5	1009	-		all_neural(266;0.026)	219			Peptidase S1.		Q53ZR3|Q9HBG8	Silent	SNP	ENST00000336334.3	37	c.657T>C	CCDS12810.1																																																																																				0.493	KLK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465057.1	NM_012427		8	54	0	0	0	1	0	8	54					G	51451965	A	G	51451965	2	3	180	1	0	0	0	0	0	0	0	1	8407	214	8	4		4	KLK5	19	51451965	Silent	SNP	A	TCGA-G9-6498-01A-12D-A30X-08	224753	51451965	7677018	32	8469											
PTPRT	11122	broad.mit.edu	37	chr20	40827928	40827928	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agagaagccttcatcattgcGgctggcgctgagcttggtgg	7	10	15	9	2	2	2	2	1	0	1	2	3	2	2	1	4	3	3	1	4	1	3			TCGA-G9-6498-01A-12D-A30X-08	TCGA-G9-6498-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e807a5d4-8642-4757-a1e6-9fc58e6f5d65	e3e7e02b-0f70-4574-8d1c-63fd5b15d3bd	g.chr20:40827928G>A	ENST00000373187.1	-	16	2442	c.2443C>T	c.(2443-2445)Cgc>Tgc	p.R815C	PTPRT_ENST00000373193.3_Missense_Mutation_p.R818C|PTPRT_ENST00000356100.2_Missense_Mutation_p.R824C|PTPRT_ENST00000373201.1_Missense_Mutation_p.R805C|PTPRT_ENST00000373190.1_Missense_Mutation_p.R815C|PTPRT_ENST00000373184.1_Missense_Mutation_p.R805C|PTPRT_ENST00000373198.4_Missense_Mutation_p.R834C			O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	815					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|delta-catenin binding (GO:0070097)|gamma-catenin binding (GO:0045295)|protein tyrosine phosphatase activity (GO:0004725)			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				TCATCATTGCGGCTGGCGCTG	0.582																																						ENST00000373198.3																			0				NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176						c.(2509-2511)Cgc>Tgc		protein tyrosine phosphatase, receptor type, T							253	259	257					20																	40827928		2048	4203	6251	SO:0001583	missense	11122				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity	g.chr20:40827928G>A	AF043644	CCDS42874.1, CCDS68127.1	20q12-q13	2013-02-11			ENSG00000196090	ENSG00000196090		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	9682	protein-coding gene	gene with protein product		608712				9486824, 9602027	Standard	NM_133170		Approved	RPTPrho, KIAA0283	uc010ggj.3	O14522	OTTHUMG00000033040	ENST00000373187.1:c.2443C>T	20.37:g.40827928G>A	ENSP00000362283:p.Arg815Cys					PTPRT_ENST00000373201.1_Missense_Mutation_p.R805C|PTPRT_ENST00000356100.2_Missense_Mutation_p.R824C|PTPRT_ENST00000373184.1_Missense_Mutation_p.R805C|PTPRT_ENST00000373187.1_Missense_Mutation_p.R815C|PTPRT_ENST00000373193.3_Missense_Mutation_p.R818C|PTPRT_ENST00000373190.1_Missense_Mutation_p.R815C	p.R837C	NM_133170.3	NP_573400.3	O14522	PTPRT_HUMAN			17	2744	-		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)	815					A8E4R6|O43655|O75664|Q5W0X9|Q5W0Y1|Q9BR24|Q9BR28|Q9H0Y8|Q9NTL1|Q9NU72|Q9UBD2|Q9UJL7	Missense_Mutation	SNP	ENST00000373187.1	37	c.2509C>T	CCDS42874.1	.	.	.	.	.	.	.	.	.	.	G	18.26	3.585342	0.66105	.	.	ENSG00000196090	ENST00000373190;ENST00000373187;ENST00000373193;ENST00000356100;ENST00000373198;ENST00000373184;ENST00000373201	T;T;T;T;T;T;T	0.35973	1.32;1.32;1.31;1.28;1.3;1.28;1.29	5.73	4.73	0.59995	.	0.116284	0.64402	D	0.000010	T	0.27454	0.0674	N	0.04508	-0.205	0.50632	D	0.999882	P;P	0.52170	0.951;0.918	P;B	0.48901	0.594;0.39	T	0.31861	-0.9928	10	0.72032	D	0.01	.	16.7098	0.85382	0.0:0.0:0.8704:0.1296	.	837;815	O14522-1;O14522	.;PTPRT_HUMAN	C	815;815;818;824;837;805;805	ENSP00000362286:R815C;ENSP00000362283:R815C;ENSP00000362289:R818C;ENSP00000348408:R824C;ENSP00000362294:R837C;ENSP00000362280:R805C;ENSP00000362297:R805C	ENSP00000348408:R824C	R	-	1	0	PTPRT	40261342	1.000000	0.71417	0.998000	0.56505	0.938000	0.57974	7.126000	0.77201	2.861000	0.98227	0.655000	0.94253	CGC		0.582	PTPRT-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000080315.1			7	424	0	0	0	1	0	7	424					A	40827928	G	A	40827928	3	1	180	1	0	0	0	0	1	0	0	0	12812	1116	39	2	1946	2	PTPRT	20	40827928	Missense_Mutation	SNP	G	TCGA-G9-6498-01A-12D-A30X-08		40827928	22197592	33	8470											
SLC44A5	204962	broad.mit.edu	37	chr1	75708580	75708580	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacacacataccttcacaggCttagcagtggtcttacagaa	14	9	7	11	0	2	1	1	0	1	1	2	1	2	1	1	2	4	2	1	2	5	4			TCGA-G9-6499-01A-12D-1961-08	TCGA-G9-6499-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fa7c553-f043-4ce7-9587-bb7ffc8d4b65	5fcb803a-2051-46ce-bd29-cc6ad5825bcd	g.chr1:75708580C>T	ENST00000370855.5	-	8	575	c.462G>A	c.(460-462)aaG>aaA	p.K154K	SLC44A5_ENST00000370859.3_Silent_p.K154K|SLC44A5_ENST00000535611.1_Silent_p.K24K|SLC44A5_ENST00000469525.1_5'Flank	NM_152697.4	NP_689910.2	Q8NCS7	CTL5_HUMAN	solute carrier family 44, member 5	154					glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				kidney(1)|large_intestine(13)|lung(35)|ovary(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						CCTTCACAGGCTTAGCAGTGG	0.368																																						ENST00000370855.5																			0				kidney(1)|large_intestine(13)|lung(35)|ovary(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						c.(460-462)aaG>aaA		solute carrier family 44, member 5							166	169	168					1																	75708580		2203	4300	6503	SO:0001819	synonymous_variant	204962					integral to membrane|plasma membrane	choline transmembrane transporter activity	g.chr1:75708580C>T	BC034580	CCDS667.1, CCDS44164.1	1p31.1	2013-05-22			ENSG00000137968	ENSG00000137968		"Solute carriers"	28524	protein-coding gene	gene with protein product						15715662	Standard	NM_152697		Approved	MGC34032, CTL5	uc001dgu.3	Q8NCS7	OTTHUMG00000009721	ENST00000370855.5:c.462G>A	1.37:g.75708580C>T						SLC44A5_ENST00000535611.1_Silent_p.K24K|SLC44A5_ENST00000370859.3_Silent_p.K154K	p.K154K	NM_152697.4	NP_689910.2	Q8NCS7	CTL5_HUMAN			8	575	-			154					B5MCU3|Q4G0K0|Q8NA44|Q8NB86	Silent	SNP	ENST00000370855.5	37	c.462G>A	CCDS667.1																																																																																				0.368	SLC44A5-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000026921.1	NM_152697		16	170	0	0	0	0.006122	0	16	170					T	75708580	C	T	75708580	2	4	181	1	0	0	0	0	0	0	0	1	14639	796	28	3		3	SLC44A5	1	75708580	Silent	SNP	C	TCGA-G9-6499-01A-12D-1961-08		75708580	173542041	1	8471											
CLK2	1196	broad.mit.edu	37	chr1	155240637	155240637	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tagctgtcctctcgccgacgCcgtcgtgtccggtcactact	4	11	10	16	6	2	0	1	0	1	0	6	1	4	0	4	1	2	1	4	1	2	2			TCGA-G9-6499-01A-12D-1961-08	TCGA-G9-6499-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fa7c553-f043-4ce7-9587-bb7ffc8d4b65	5fcb803a-2051-46ce-bd29-cc6ad5825bcd	g.chr1:155240637C>T	ENST00000368361.4	-	2	447	c.132G>A	c.(130-132)cgG>cgA	p.R44R	CLK2_ENST00000536801.1_Silent_p.R44R|CLK2_ENST00000355560.4_Silent_p.R44R|CLK2_ENST00000497188.1_5'Flank|CLK2_ENST00000361168.5_Silent_p.R44R			P49760	CLK2_HUMAN	CDC-like kinase 2	44					negative regulation of gluconeogenesis (GO:0045721)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of RNA splicing (GO:0043484)|response to ionizing radiation (GO:0010212)|response to retinoic acid (GO:0032526)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)			endometrium(4)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	22	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			CTCGCCGACGCCGTCGTGTCC	0.552								Other conserved DNA damage response genes																														ENST00000368361.4																			0				endometrium(4)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	22						c.(130-132)cgG>cgA	Other conserved DNA damage response genes	CDC-like kinase 2							116	107	110					1																	155240637		2203	4300	6503	SO:0001819	synonymous_variant	1196					nucleus	ATP binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr1:155240637C>T	L29218	CCDS1107.1, CCDS72939.1	1q21	2008-05-02			ENSG00000176444	ENSG00000176444		"CDC-like kinases"	2069	protein-coding gene	gene with protein product		602989				7990150, 9856501	Standard	XM_005244876		Approved	clk2	uc001fjw.3	P49760	OTTHUMG00000035873	ENST00000368361.4:c.132G>A	1.37:g.155240637C>T						CLK2_ENST00000355560.4_Silent_p.R44R|CLK2_ENST00000361168.5_Silent_p.R44R|CLK2_ENST00000536801.1_Silent_p.R44R	p.R44R			P49760	CLK2_HUMAN	Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)		2	447	-	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		44					B1AVS9|B5MBX6|Q96CQ0	Silent	SNP	ENST00000368361.4	37	c.132G>A																																																																																					0.552	CLK2-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000087391.1	NM_003993		16	215	0	0	0	0.00499	0	16	215					T	155240637	C	T	155240637	2	4	181	1	0	0	0	0	0	0	0	1	3537	726	26	3		3	CLK2	1	155240637	Silent	SNP	C	TCGA-G9-6499-01A-12D-1961-08	79532057	155240637	94009984	2	8472											
ARHGEF11	9826	broad.mit.edu	37	chr1	156937915	156937915	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccgagttccgattcatcaatGactagagaaacaaagaattc	16	9	7	9	2	2	3	2	1	0	2	4	6	3	3	2	0	1	1	2	0	5	4			TCGA-G9-6499-01A-12D-1961-08	TCGA-G9-6499-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fa7c553-f043-4ce7-9587-bb7ffc8d4b65	5fcb803a-2051-46ce-bd29-cc6ad5825bcd	g.chr1:156937915G>A	ENST00000361409.2	-	10	1449	c.707C>T	c.(706-708)tCa>tTa	p.S236L	ARHGEF11_ENST00000368194.3_Splice_Site_p.S276L	NM_014784.3	NP_055599.1	O15085	ARHGB_HUMAN	Rho guanine nucleotide exchange factor (GEF) 11	236					actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|cellular component movement (GO:0006928)|cytokinesis (GO:0000910)|establishment of cell polarity (GO:0030010)|G-protein coupled receptor signaling pathway (GO:0007186)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell growth (GO:0001558)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)|striated muscle contraction (GO:0006941)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular (GO:0005622)|membrane (GO:0016020)	G-protein coupled receptor binding (GO:0001664)|GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(27)|ovary(4)|pancreas(2)|pleura(1)|prostate(4)|skin(7)|stomach(1)|urinary_tract(2)	81	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					ATTCATCAATGACTAGAGAAA	0.517																																						ENST00000368194.3																			0				NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(27)|ovary(4)|pancreas(2)|pleura(1)|prostate(4)|skin(7)|stomach(1)|urinary_tract(2)	81						c.e11-1		Rho guanine nucleotide exchange factor (GEF) 11							38	37	37					1																	156937915		2203	4300	6503	SO:0001630	splice_region_variant	9826				actin cytoskeleton organization|apoptosis|axon guidance|cellular component movement|cytokinesis|establishment of cell polarity|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cell growth|regulation of Rho protein signal transduction|Rho protein signal transduction|striated muscle contraction	cytosol|Golgi apparatus|plasma membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|signal transducer activity	g.chr1:156937915G>A	AB002378	CCDS1162.1, CCDS1163.1	1q21	2011-11-16			ENSG00000132694	ENSG00000132694		"Rho guanine nucleotide exchange factors"	14580	protein-coding gene	gene with protein product		605708				10526156, 9205841	Standard	NM_014784		Approved	KIAA0380, GTRAP48, PDZ-RHOGEF	uc001fqn.3	O15085	OTTHUMG00000041292	ENST00000361409.2:c.706-1C>T	1.37:g.156937915G>A						ARHGEF11_ENST00000361409.2_Splice_Site_p.S236_splice	p.S276_splice	NM_198236.2	NP_937879.1	O15085	ARHGB_HUMAN			11	1866	-	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)		236					D3DVD0|Q5VY40|Q6PFW2	Splice_Site	SNP	ENST00000361409.2	37	c.825_splice	CCDS1162.1	.	.	.	.	.	.	.	.	.	.	G	13.14	2.147573	0.37923	.	.	ENSG00000132694	ENST00000368194;ENST00000361409	T;T	0.68181	-0.31;-0.22	5.23	4.32	0.51571	.	0.662303	0.13366	N	0.393285	T	0.29684	0.0741	N	0.24115	0.695	0.80722	D	1	B;B	0.14012	0.004;0.009	B;B	0.12837	0.006;0.008	T	0.18241	-1.0343	10	0.20046	T	0.44	-3.6729	6.7639	0.23556	0.0879:0.0:0.7383:0.1738	.	236;276	O15085;O15085-2	ARHGB_HUMAN;.	L	276;236	ENSP00000357177:S276L;ENSP00000354644:S236L	ENSP00000354644:S236L	S	-	2	0	ARHGEF11	155204539	0.971000	0.33674	0.875000	0.34327	0.937000	0.57800	1.958000	0.40402	1.421000	0.47157	0.650000	0.86243	TCA		0.517	ARHGEF11-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000098931.1	NM_198236	Missense_Mutation	15	46	0	0	0	0.00245	0	15	46					A	156937915	G	A	156937915	5	1	181	1	0	0	0	0	0	0	1	0	896	1304	45	3	3985	3	ARHGEF11	1	156937915	Splice_Site	SNP	G	TCGA-G9-6499-01A-12D-1961-08	1697278	156937915	92312706	3	8473											
TMEM63A	9725	broad.mit.edu	37	chr1	226059717	226059717	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcaaagtcttgttgacctgaGgaggaagtcgatgacaatct	12	11	11	7	1	3	3	1	3	2	0	4	6	3	5	1	2	0	1	1	2	3	2			TCGA-G9-6499-01A-12D-1961-08	TCGA-G9-6499-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fa7c553-f043-4ce7-9587-bb7ffc8d4b65	5fcb803a-2051-46ce-bd29-cc6ad5825bcd	g.chr1:226059717G>A	ENST00000366835.3	-	5	573	c.303C>T	c.(301-303)tcC>tcT	p.S101S		NM_014698.2	NP_055513.2	O94886	CSCL1_HUMAN	transmembrane protein 63A	101					ion transport (GO:0006811)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	nucleotide binding (GO:0000166)			breast(2)|endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	24	Breast(184;0.197)					GTTGACCTGAGGAGGAAGTCG	0.438																																						ENST00000366835.3																			0				breast(2)|endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	24						c.(301-303)tcC>tcT		transmembrane protein 63A							114	94	101					1																	226059717		2203	4300	6503	SO:0001819	synonymous_variant	9725					integral to membrane|lysosomal membrane	nucleotide binding	g.chr1:226059717G>A		CCDS31042.1	1q42.12	2008-02-05	2005-07-25	2005-07-25	ENSG00000196187	ENSG00000196187			29118	protein-coding gene	gene with protein product			"KIAA0792"	KIAA0792		9872452, 9455484	Standard	NM_014698		Approved		uc001hpm.2	O94886	OTTHUMG00000037442	ENST00000366835.3:c.303C>T	1.37:g.226059717G>A							p.S101S	NM_014698.2	NP_055513.2	O94886	TM63A_HUMAN			5	573	-	Breast(184;0.197)		101					Q53GI7|Q5TE96|Q8N2U2	Silent	SNP	ENST00000366835.3	37	c.303C>T	CCDS31042.1																																																																																				0.438	TMEM63A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091154.2	NM_014698		4	22	0	0	0	0.009096	0	4	22					A	226059717	G	A	226059717	2	1	181	1	0	0	0	0	0	0	0	1	16187	987	35	3		3	TMEM63A	1	226059717	Silent	SNP	G	TCGA-G9-6499-01A-12D-1961-08	69121802	226059717	23190904	4	8474											
BRE	9577	broad.mit.edu	37	chr2	28550226	28550226	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aaactggctgcaagctgctcCagccccagaggaactggcca	11	5	11	14	0	0	1	0	0	0	1	1	2	1	2	4	3	6	4	4	3	3	0			TCGA-G9-6499-01A-12D-1961-08	TCGA-G9-6499-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fa7c553-f043-4ce7-9587-bb7ffc8d4b65	5fcb803a-2051-46ce-bd29-cc6ad5825bcd	g.chr2:28550226C>G	ENST00000344773.2	+	12	1312	c.1174C>G	c.(1174-1176)Cag>Gag	p.Q392E	BRE_ENST00000379632.2_Intron|BRE_ENST00000342045.2_Intron|BRE_ENST00000379624.1_Intron|BRE_ENST00000361704.2_Intron	NM_004899.4	NP_004890.2			brain and reproductive organ-expressed (TNFRSF1A modulator)											NS(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|prostate(2)|skin(2)	23	Acute lymphoblastic leukemia(172;0.155)					CAAGCTGCTCCAGCCCCAGAG	0.557																																						ENST00000344773.2																			0				NS(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|prostate(2)|skin(2)	23						c.(1174-1176)Cag>Gag		brain and reproductive organ-expressed (TNFRSF1A modulator)							63	73	70					2																	28550226		2203	4300	6503	SO:0001583	missense	9577				apoptosis|chromatin modification|double-strand break repair|G2/M transition DNA damage checkpoint|positive regulation of anti-apoptosis|positive regulation of DNA repair|response to ionizing radiation|signal transduction	BRCA1-A complex|BRISC complex|cytoplasm|nuclear ubiquitin ligase complex	peroxisome targeting sequence binding|polyubiquitin binding|tumor necrosis factor receptor binding	g.chr2:28550226C>G	AF015767	CCDS1763.1, CCDS1764.1, CCDS1765.1	2p23	2008-02-05			ENSG00000158019	ENSG00000158019			1106	protein-coding gene	gene with protein product	"BRCA1/BRCA2-containing complex, subunit 4"	610497				9737713, 7826398	Standard	NM_004899		Approved	BRCC45, BRCC4	uc002rls.3	Q9NXR7	OTTHUMG00000097831	ENST00000344773.2:c.1174C>G	2.37:g.28550226C>G	ENSP00000343412:p.Gln392Glu					BRE_ENST00000379632.2_Intron|BRE_ENST00000379624.1_Intron|BRE_ENST00000342045.2_Intron|BRE_ENST00000361704.2_Intron	p.Q392E	NM_004899.4	NP_004890.2	Q9NXR7	BRE_HUMAN			12	1312	+	Acute lymphoblastic leukemia(172;0.155)		0						Missense_Mutation	SNP	ENST00000344773.2	37	c.1174C>G	CCDS1764.1	.	.	.	.	.	.	.	.	.	.	C	12.88	2.071186	0.36566	.	.	ENSG00000158019	ENST00000344773	.	.	.	3.3	-1.07	0.09968	.	0.908813	0.09354	N	0.813665	T	0.24851	0.0603	.	.	.	0.09310	N	0.999998	B	0.02656	0.0	B	0.01281	0.0	T	0.32640	-0.9899	8	0.87932	D	0	17.7334	0.3808	0.00395	0.2066:0.1546:0.2124:0.4264	.	392	Q9NXR7-1	.	E	392	.	ENSP00000343412:Q392E	Q	+	1	0	BRE	28403730	0.000000	0.05858	0.038000	0.18304	0.956000	0.61745	-0.380000	0.07427	-0.181000	0.10619	0.455000	0.32223	CAG		0.557	BRE-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000215111.1			29	182	0	0	0	0.009535	0	29	182					G	28550226	C	G	28550226	3	3	181	1	0	0	0	0	1	0	0	0	1509	595	21	5	1263	5	BRE	2	28550226	Missense_Mutation	SNP	C	TCGA-G9-6499-01A-12D-1961-08		28550226	214649147	5	8475											
LOXL3	84695	broad.mit.edu	37	chr2	74762839	74762839	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggtccccctatttgcaccTcgactcgcccctcatgttgg	5	11	8	17	2	1	0	1	0	0	0	4	1	2	0	5	2	1	2	5	2	1	3			TCGA-G9-6499-01A-12D-1961-08	TCGA-G9-6499-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fa7c553-f043-4ce7-9587-bb7ffc8d4b65	5fcb803a-2051-46ce-bd29-cc6ad5825bcd	g.chr2:74762839T>C	ENST00000264094.3	-	8	1363	c.1292A>G	c.(1291-1293)gAg>gGg	p.E431G	LOXL3_ENST00000393937.2_Missense_Mutation_p.E286G|LOXL3_ENST00000409986.1_Missense_Mutation_p.E286G|LOXL3_ENST00000409549.1_Intron|LOXL3_ENST00000409249.1_Intron	NM_032603.2	NP_115992.1	P58215	LOXL3_HUMAN	lysyl oxidase-like 3	431	SRCR 4. {ECO:0000255|PROSITE- ProRule:PRU00196}.				epithelial to mesenchymal transition (GO:0001837)|negative regulation of transcription, DNA-templated (GO:0045892)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)|nucleus (GO:0005634)	copper ion binding (GO:0005507)|protein-lysine 6-oxidase activity (GO:0004720)|scavenger receptor activity (GO:0005044)			endometrium(7)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	30						TATTTGCACCTCGACTCGCCC	0.622																																						ENST00000264094.3																			0				endometrium(7)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	30						c.(1291-1293)gAg>gGg		lysyl oxidase-like 3							43	51	49					2																	74762839		2202	4300	6502	SO:0001583	missense	84695					extracellular space|membrane	copper ion binding|protein-lysine 6-oxidase activity|scavenger receptor activity	g.chr2:74762839T>C	AF282619	CCDS1953.1, CCDS74527.1	2p13	2008-05-23			ENSG00000115318	ENSG00000115318			13869	protein-coding gene	gene with protein product		607163				11386757	Standard	NM_032603		Approved		uc002smp.1	P58215	OTTHUMG00000129953	ENST00000264094.3:c.1292A>G	2.37:g.74762839T>C	ENSP00000264094:p.Glu431Gly					LOXL3_ENST00000409986.1_Missense_Mutation_p.E286G|LOXL3_ENST00000409549.1_Intron|LOXL3_ENST00000409249.1_Intron|LOXL3_ENST00000393937.2_Missense_Mutation_p.E286G	p.E431G	NM_032603.2	NP_115992.1	P58215	LOXL3_HUMAN			8	1363	-			431			SRCR 4.		D6W5J1|Q2EHP2|Q6IPL7|Q96RS1	Missense_Mutation	SNP	ENST00000264094.3	37	c.1292A>G	CCDS1953.1	.	.	.	.	.	.	.	.	.	.	T	23.6	4.437443	0.83885	.	.	ENSG00000115318	ENST00000264094;ENST00000393937;ENST00000409986	T;T;T	0.49139	0.79;0.79;0.79	5.11	5.11	0.69529	Speract/scavenger receptor (2);Speract/scavenger receptor-related (2);	0.000000	0.85682	D	0.000000	T	0.80116	0.4564	H	0.98542	4.26	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.91635	0.999;0.998;0.998	D	0.87197	0.2238	10	0.87932	D	0	.	13.1755	0.59624	0.0:0.0:0.0:1.0	.	286;286;431	B9A025;Q6IPL7;P58215	.;.;LOXL3_HUMAN	G	431;286;286	ENSP00000264094:E431G;ENSP00000377512:E286G;ENSP00000386545:E286G	ENSP00000264094:E431G	E	-	2	0	LOXL3	74616347	1.000000	0.71417	0.995000	0.50966	0.992000	0.81027	7.868000	0.87116	2.272000	0.75746	0.460000	0.39030	GAG		0.622	LOXL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252215.1	NM_032603		3	90	0	0	0	0.009096	0	3	90					C	74762839	T	C	74762839	3	2	181	1	0	0	0	0	1	0	0	0	8901	1551	54	4	997	4	LOXL3	2	74762839	Missense_Mutation	SNP	T	TCGA-G9-6499-01A-12D-1961-08	46212613	74762839	168436534	6	8476											
C3orf24	115795	broad.mit.edu	37	chr3	10145972	10145972	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gcactttttgtaagttgcatAcagcaagaggatagagcgca	13	10	11	7	1	0	2	0	0	0	2	0	3	0	3	0	1	4	6	0	1	4	6			TCGA-G9-6499-01A-12D-1961-08	TCGA-G9-6499-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fa7c553-f043-4ce7-9587-bb7ffc8d4b65	5fcb803a-2051-46ce-bd29-cc6ad5825bcd	g.chr3:10145972A>G	ENST00000450660.2	-	2	703	c.487T>C	c.(487-489)Tat>Cat	p.Y163H	FANCD2OS_ENST00000524279.1_Missense_Mutation_p.Y163H	NM_001164839.1	NP_001158311.1	Q96PS1	FACOS_HUMAN	FANCD2 opposite strand	163																	TAAGTTGCATACAGCAAGAGG	0.483																																						ENST00000450660.2																			0											c.(487-489)Tat>Cat		FANCD2 opposite strand							113	101	105					3																	10145972		2203	4300	6503	SO:0001583	missense	115795							g.chr3:10145972A>G	AF230334	CCDS2596.1	3p25.3	2012-11-12	2012-11-12	2012-11-12	ENSG00000163705	ENSG00000163705			28623	protein-coding gene	gene with protein product			"chromosome 3 open reading frame 24"	C3orf24		12477932	Standard	NM_001164839		Approved	MGC40179	uc003buz.3	Q96PS1	OTTHUMG00000128669	ENST00000450660.2:c.487T>C	3.37:g.10145972A>G	ENSP00000429608:p.Tyr163His					FANCD2OS_ENST00000524279.1_Missense_Mutation_p.Y163H	p.Y163H	NM_001164839.1	NP_001158311.1					2	703	-									Missense_Mutation	SNP	ENST00000450660.2	37	c.487T>C	CCDS2596.1	.	.	.	.	.	.	.	.	.	.	A	18.69	3.677365	0.68042	.	.	ENSG00000163705	ENST00000524279;ENST00000450660	.	.	.	5.5	5.5	0.81552	.	0.000000	0.64402	D	0.000004	T	0.64735	0.2625	L	0.29908	0.895	0.45097	D	0.998117	D	0.69078	0.997	D	0.71184	0.972	T	0.68606	-0.5364	9	0.87932	D	0	.	13.604	0.62037	1.0:0.0:0.0:0.0	.	163	Q96PS1	CC024_HUMAN	H	163	.	ENSP00000429608:Y163H	Y	-	1	0	C3orf24	10120972	1.000000	0.71417	0.999000	0.59377	0.834000	0.47266	5.583000	0.67484	2.108000	0.64289	0.529000	0.55759	TAT		0.483	FANCD2OS-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339891.2	NM_173472		33	77	0	0	0	0.010818	0	33	77					G	10145972	A	G	10145972	3	3	181	1	0	0	0	0	1	0	0	0	2217	391	14	4	50	4	C3orf24	3	10145972	Missense_Mutation	SNP	A	TCGA-G9-6499-01A-12D-1961-08		10145972	187876458	7	8477											
GRIP2	80852	broad.mit.edu	37	chr3	14561979	14561979	+	RNA	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ggtggtggtgagcgagatccCcagggcagaccctggcgtct	6	7	17	11	2	1	3	0	1	1	2	2	4	2	3	3	5	1	1	3	5	0	0			TCGA-G9-6499-01A-12D-1961-08	TCGA-G9-6499-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fa7c553-f043-4ce7-9587-bb7ffc8d4b65	5fcb803a-2051-46ce-bd29-cc6ad5825bcd	g.chr3:14561979C>G	ENST00000273083.3	-	0	843							Q9C0E4	GRIP2_HUMAN	glutamate receptor interacting protein 2						synaptic transmission (GO:0007268)	cytosol (GO:0005829)|plasma membrane (GO:0005886)				endometrium(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	25						AGCGAGATCCCCAGGGCAGAC	0.552																																						ENST00000273083.3																			0				endometrium(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	25								glutamate receptor interacting protein 2							70	80	77					3																	14561979		2122	4238	6360			80852				synaptic transmission	cytosol|plasma membrane	protein binding	g.chr3:14561979C>G	AB051506		3p24-p23	2012-02-08			ENSG00000144596	ENSG00000144596			23841	protein-coding gene	gene with protein product							Standard	NM_001080423		Approved	KIAA1719	uc021wtn.1	Q9C0E4	OTTHUMG00000155544		3.37:g.14561979C>G										Q9C0E4	GRIP2_HUMAN			0	843	-								Q8TEH9|Q9H7H3	RNA	SNP	ENST00000273083.3	37																																																																																						0.552	GRIP2-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000340582.2	NM_001080423		8	37	0	0	0	0.004482	0	8	37					G	14561979	C	G	14561979	1	3	181	0	1	0	0	0	0	0	0	0	6788	623	22	5		5	GRIP2	3	14561979	RNA	SNP	C	TCGA-G9-6499-01A-12D-1961-08	4416007	14561979	183460451	8	8478											
GRIA2	2891	broad.mit.edu	37	chr4	158254022	158254022	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aagtgatgactgaagccttcCgcaacctaaggaagcaaaga	16	6	10	9	1	0	4	0	3	0	1	1	5	1	5	3	1	3	2	3	1	6	2			TCGA-G9-6499-01A-12D-1961-08	TCGA-G9-6499-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fa7c553-f043-4ce7-9587-bb7ffc8d4b65	5fcb803a-2051-46ce-bd29-cc6ad5825bcd	g.chr4:158254022C>T	ENST00000264426.9	+	7	1213	c.934C>T	c.(934-936)Cgc>Tgc	p.R312C	GRIA2_ENST00000449365.1_Missense_Mutation_p.R265C|GRIA2_ENST00000507898.1_Missense_Mutation_p.R265C|GRIA2_ENST00000393815.2_Missense_Mutation_p.R265C|GRIA2_ENST00000296526.7_Missense_Mutation_p.R312C	NM_001083619.1	NP_001077088	P42262	GRIA2_HUMAN	glutamate receptor, ionotropic, AMPA 2	312					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)|ionotropic glutamate receptor activity (GO:0004970)			NS(1)|breast(2)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(2)|lung(32)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	79	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0294)	Amobarbital(DB01351)|Aprobarbital(DB01352)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Methylphenobarbital(DB00849)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Primidone(DB00794)|Quinidine barbiturate(DB01346)|Secobarbital(DB00418)|Talbutal(DB00306)|Thiopental(DB00599)	TGAAGCCTTCCGCAACCTAAG	0.468																																						ENST00000296526.7																			0				NS(1)|breast(2)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(2)|lung(32)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	79						c.(934-936)Cgc>Tgc		glutamate receptor, ionotropic, AMPA 2	L-Glutamic Acid(DB00142)						101	107	105					4																	158254022		2203	4300	6503	SO:0001583	missense	2891				synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|endoplasmic reticulum membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity	g.chr4:158254022C>T		CCDS3797.1, CCDS43274.1, CCDS43275.1	4q32.1	2012-08-29			ENSG00000120251	ENSG00000120251		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4572	protein-coding gene	gene with protein product		138247		GLUR2		1311100	Standard	NM_001083619		Approved	GluA2, GLURB	uc003ipl.4	P42262	OTTHUMG00000133836	ENST00000264426.9:c.934C>T	4.37:g.158254022C>T	ENSP00000264426:p.Arg312Cys					GRIA2_ENST00000393815.2_Missense_Mutation_p.R265C|GRIA2_ENST00000507898.1_Missense_Mutation_p.R265C|GRIA2_ENST00000264426.9_Missense_Mutation_p.R312C|GRIA2_ENST00000449365.1_Missense_Mutation_p.R265C	p.R312C	NM_000826.3	NP_000817.2	P42262	GRIA2_HUMAN		COAD - Colon adenocarcinoma(41;0.0294)	7	1259	+	all_hematologic(180;0.24)	Renal(120;0.0458)	312					A8MT92|I6L997|Q96FP6	Missense_Mutation	SNP	ENST00000264426.9	37	c.934C>T	CCDS43274.1	.	.	.	.	.	.	.	.	.	.	C	28.8	4.947403	0.92593	.	.	ENSG00000120251	ENST00000507898;ENST00000393815;ENST00000296526;ENST00000264426;ENST00000449365	D;D;D;D;D	0.83250	-1.7;-1.7;-1.7;-1.7;-1.7	5.09	5.09	0.68999	Extracellular ligand-binding receptor (1);	0.000000	0.85682	D	0.000000	D	0.89763	0.6809	L	0.60455	1.87	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;P;D	0.81914	0.989;0.77;0.995	D	0.90848	0.4729	10	0.87932	D	0	.	18.4737	0.90783	0.0:1.0:0.0:0.0	.	312;312;265	P42262;P42262-2;A8MT92	GRIA2_HUMAN;.;.	C	265;265;312;312;265	ENSP00000426845:R265C;ENSP00000377403:R265C;ENSP00000296526:R312C;ENSP00000264426:R312C;ENSP00000389837:R265C	ENSP00000264426:R312C	R	+	1	0	GRIA2	158473472	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.003000	0.70701	2.341000	0.79615	0.557000	0.71058	CGC		0.468	GRIA2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000258367.2			35	124	0	0	0	0.003755	0	35	124					T	158254022	C	T	158254022	3	4	181	1	0	0	0	0	1	0	0	0	6768	652	23	2	960	2	GRIA2	4	158254022	Missense_Mutation	SNP	C	TCGA-G9-6499-01A-12D-1961-08		158254022	32900254	9	8479											
TRIO	7204	broad.mit.edu	37	chr5	14508079	14508079	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttcagctcaacacgacctacTacatccaccagttactgggg	11	9	7	14	1	2	0	2	0	0	0	3	1	3	0	3	2	5	2	3	2	4	4			TCGA-G9-6499-01A-12D-1961-08	TCGA-G9-6499-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fa7c553-f043-4ce7-9587-bb7ffc8d4b65	5fcb803a-2051-46ce-bd29-cc6ad5825bcd	g.chr5:14508079T>C	ENST00000344204.4	+	57	8866	c.8842T>C	c.(8842-8844)Tac>Cac	p.Y2948H	TRIO_ENST00000537187.1_Missense_Mutation_p.Y2772H|TRIO_ENST00000344135.5_Missense_Mutation_p.Y447H	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	2948	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	cytosol (GO:0005829)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					CACGACCTACTACATCCACCA	0.517																																						ENST00000344204.4																			0				NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118						c.(8842-8844)Tac>Cac		trio Rho guanine nucleotide exchange factor							108	100	103					5																	14508079		2203	4300	6503	SO:0001583	missense	7204				apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity	g.chr5:14508079T>C	AF091395	CCDS3883.1	5p14-p15.1	2013-01-11	2012-07-12		ENSG00000038382	ENSG00000038382		"Rho guanine nucleotide exchange factors", "Immunoglobulin superfamily / I-set domain containing"	12303	protein-coding gene	gene with protein product		601893	"triple functional domain (PTPRF interacting)"			8643598	Standard	NM_007118		Approved	ARHGEF23	uc003jff.3	O75962	OTTHUMG00000131057	ENST00000344204.4:c.8842T>C	5.37:g.14508079T>C	ENSP00000339299:p.Tyr2948His					TRIO_ENST00000537187.1_Missense_Mutation_p.Y2772H|TRIO_ENST00000344135.5_Missense_Mutation_p.Y447H	p.Y2948H	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN			57	8866	+	Lung NSC(4;0.000742)		2948			Protein kinase.		D3DTD1|Q13458|Q59EQ7|Q6PJC9|Q6ZN05|Q8IWK8	Missense_Mutation	SNP	ENST00000344204.4	37	c.8842T>C	CCDS3883.1	.	.	.	.	.	.	.	.	.	.	T	9.747	1.166374	0.21621	.	.	ENSG00000038382	ENST00000344204;ENST00000537187;ENST00000344135	T;T;T	0.64618	-0.11;-0.11;-0.11	5.28	1.26	0.21427	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.145200	0.47852	N	0.000208	T	0.50905	0.1643	N	0.21617	0.685	0.24544	N	0.994054	B	0.32968	0.392	B	0.44224	0.444	T	0.45629	-0.9248	10	0.30078	T	0.28	.	8.3679	0.32397	0.0:0.267:0.0:0.733	.	2948	O75962	TRIO_HUMAN	H	2948;2772;447	ENSP00000339299:Y2948H;ENSP00000446348:Y2772H;ENSP00000339291:Y447H	ENSP00000339291:Y447H	Y	+	1	0	TRIO	14561079	1.000000	0.71417	0.996000	0.52242	0.925000	0.55904	1.844000	0.39269	0.022000	0.15160	0.533000	0.62120	TAC		0.517	TRIO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253711.2	NM_007118		9	65	0	0	0	0.006214	0	9	65					C	14508079	T	C	14508079	3	2	181	1	0	0	0	0	1	0	0	0	16549	1522	53	4	9068	4	TRIO	5	14508079	Missense_Mutation	SNP	T	TCGA-G9-6499-01A-12D-1961-08		14508079	166407181	10	8480											
PCDHA12	56137	broad.mit.edu	37	chr5	140256229	140256229	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtcatctgctcactgacacCtcatgttcccttcaagctgg	7	12	8	14	0	5	1	4	1	1	0	6	1	6	1	2	2	2	3	2	2	1	2			TCGA-G9-6499-01A-12D-1961-08	TCGA-G9-6499-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fa7c553-f043-4ce7-9587-bb7ffc8d4b65	5fcb803a-2051-46ce-bd29-cc6ad5825bcd	g.chr5:140256229C>T	ENST00000398631.2	+	1	1172	c.1172C>T	c.(1171-1173)cCt>cTt	p.P391L	PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA5_ENST00000529859.1_Intron	NM_018903.2|NM_031864.2	NP_061726.1|NP_114070.1	Q9UN75	PCDAC_HUMAN	protocadherin alpha 12	391	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(4)|breast(2)|cervix(1)|endometrium(19)|kidney(8)|large_intestine(8)|liver(2)|lung(25)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCACTGACACCTCATGTTCCC	0.567																																					Pancreas(113;759 1672 13322 24104 50104)	ENST00000398631.2																			0				NS(4)|breast(2)|cervix(1)|endometrium(19)|kidney(8)|large_intestine(8)|liver(2)|lung(25)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	78						c.(1171-1173)cCt>cTt									159	153	155					5																	140256229		2203	4300	6503	SO:0001583	missense	0							g.chr5:140256229C>T	AF152477	CCDS47285.1, CCDS75327.1	5q31	2010-11-26			ENSG00000251664	ENSG00000251664		"Cadherins / Protocadherins : Clustered"	8666	other	complex locus constituent	"KIAA0345-like 2"	606318				10380929	Standard	NM_018903		Approved	PCDH-ALPHA12	uc003lic.2	Q9UN75	OTTHUMG00000163366	ENST00000398631.2:c.1172C>T	5.37:g.140256229C>T	ENSP00000381628:p.Pro391Leu					PCDHA11_ENST00000398640.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA1_ENST00000504120.2_Intron	p.P391L	NM_018903.2|NM_031864.1	NP_061726.1|NP_114070.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1172	+								O75278|Q2M1N8	Missense_Mutation	SNP	ENST00000398631.2	37	c.1172C>T	CCDS47285.1	.	.	.	.	.	.	.	.	.	.	C	9.672	1.146869	0.21288	.	.	ENSG00000251664	ENST00000398631	T	0.60040	0.22	4.96	3.13	0.36017	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.73305	0.3570	M	0.86502	2.82	0.09310	N	1	B;B	0.34313	0.146;0.448	B;P	0.48795	0.089;0.59	T	0.66376	-0.5939	9	0.59425	D	0.04	.	12.1043	0.53803	0.1358:0.7336:0.1306:0.0	.	391;391	Q9UN75-2;Q9UN75	.;PCDAC_HUMAN	L	391	ENSP00000381628:P391L	ENSP00000381628:P391L	P	+	2	0	PCDHA12	140236413	0.000000	0.05858	0.001000	0.08648	0.007000	0.05969	-2.629000	0.00872	0.575000	0.29434	0.655000	0.94253	CCT		0.567	PCDHA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372882.2	NM_018903		21	135	0	0	0	0.010504	0	21	135					T	140256229	C	T	140256229	3	4	181	1	0	0	0	0	1	0	0	0	11522	681	24	3	1174	3	PCDHA12	5	140256229	Missense_Mutation	SNP	C	TCGA-G9-6499-01A-12D-1961-08	125748150	140256229	40659031	11	8481											
PCDHAC1	56135	broad.mit.edu	37	chr5	140308873	140308873	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aatatcctgtattcagattcGgaataggaaaggggatcacg	14	10	11	6	2	2	1	2	0	0	1	4	4	3	4	1	4	0	1	1	4	6	5	rs386352346		TCGA-G9-6499-01A-12D-1961-08	TCGA-G9-6499-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fa7c553-f043-4ce7-9587-bb7ffc8d4b65	5fcb803a-2051-46ce-bd29-cc6ad5825bcd	g.chr5:140308873G>T	ENST00000253807.2	+	1	2396	c.2396G>T	c.(2395-2397)cGg>cTg	p.R799L	PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHAC1_ENST00000409700.3_Missense_Mutation_p.R799L|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA5_ENST00000529859.1_Intron	NM_018898.3	NP_061721.2	Q9H158	PCDC1_HUMAN	protocadherin alpha subfamily C, 1	799					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(2)|breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|liver(2)|lung(13)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	65			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATTCAGATTCGGAATAGGAAA	0.453																																						ENST00000253807.2																			0				NS(2)|breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|liver(2)|lung(13)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	65						c.(2395-2397)cGg>cTg									117	110	113					5																	140308873		2203	4300	6503	SO:0001583	missense	0							g.chr5:140308873G>T	AF152473	CCDS4241.1	5q31	2010-11-26			ENSG00000248383	ENSG00000248383		"Cadherins / Protocadherins : Clustered"	8676	other	complex locus constituent	"PCDH-ALPHA-C1"	606320				10380929	Standard	NM_018898		Approved			Q9H158	OTTHUMG00000129603	ENST00000253807.2:c.2396G>T	5.37:g.140308873G>T	ENSP00000253807:p.Arg799Leu					PCDHA11_ENST00000398640.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHAC1_ENST00000409700.3_Missense_Mutation_p.R799L|PCDHA13_ENST00000289272.2_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA1_ENST00000504120.2_Intron	p.R799L	NM_018898.3	NP_061721.2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2396	+								Q9Y5F5|Q9Y5I5	Missense_Mutation	SNP	ENST00000253807.2	37	c.2396G>T	CCDS4241.1	.	.	.	.	.	.	.	.	.	.	G	9.045	0.990601	0.18966	.	.	ENSG00000248383	ENST00000409700;ENST00000253807	T;T	0.52526	0.66;2.8	5.83	1.93	0.25924	.	.	.	.	.	T	0.27134	0.0665	N	0.22421	0.69	0.09310	N	0.999999	B;B	0.06786	0.001;0.001	B;B	0.10450	0.002;0.005	T	0.20840	-1.0263	9	0.26408	T	0.33	.	1.5368	0.02547	0.226:0.2512:0.3845:0.1383	.	799;799	Q9H158;Q9H158-2	PCDC1_HUMAN;.	L	799	ENSP00000386356:R799L;ENSP00000253807:R799L	ENSP00000253807:R799L	R	+	2	0	PCDHAC1	140289057	0.996000	0.38824	0.925000	0.36789	0.996000	0.88848	1.150000	0.31639	0.073000	0.16731	0.563000	0.77884	CGG		0.453	PCDHAC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251798.1	NM_018898		4	133	1	0	0.000602214	0.000602	0.00109689	4	133					T	140308873	G	T	140308873	3	4	181	1	0	0	0	0	1	0	0	0	11532	1116	39	5	2398	5	PCDHAC1	5	140308873	Missense_Mutation	SNP	G	TCGA-G9-6499-01A-12D-1961-08	52644	140308873	40606387	12	8482											
SGCD	6444	broad.mit.edu	37	chr5	155935636	155935636	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatgggaaacctgaggatcaCagaaaaaggtctaaagctag	18	6	11	6	0	2	2	1	1	1	1	2	4	2	4	1	3	2	1	1	3	7	2			TCGA-G9-6499-01A-12D-1961-08	TCGA-G9-6499-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fa7c553-f043-4ce7-9587-bb7ffc8d4b65	5fcb803a-2051-46ce-bd29-cc6ad5825bcd	g.chr5:155935636C>G	ENST00000435422.3	+	3	702	c.215C>G	c.(214-216)aCa>aGa	p.T72R	SGCD_ENST00000337851.4_Missense_Mutation_p.T73R|SGCD_ENST00000447401.1_Missense_Mutation_p.T73R|SGCD_ENST00000517913.1_Missense_Mutation_p.T73R	NM_001128209.1	NP_001121681.1	Q92629	SGCD_HUMAN	sarcoglycan, delta (35kDa dystrophin-associated glycoprotein)	72					muscle organ development (GO:0007517)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dystrophin-associated glycoprotein complex (GO:0016010)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sarcoglycan complex (GO:0016012)|sarcolemma (GO:0042383)				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(16)|prostate(1)	24	Renal(175;0.00488)	Medulloblastoma(196;0.0378)|all_neural(177;0.106)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CTGAGGATCACAGAAAAAGGT	0.413																																						ENST00000435422.3																			0				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(16)|prostate(1)	24						c.(214-216)aCa>aGa		sarcoglycan, delta (35kDa dystrophin-associated glycoprotein)							92	84	86					5																	155935636		1835	4095	5930	SO:0001583	missense	6444				cytoskeleton organization|muscle organ development	cytoplasm|cytoskeleton|integral to membrane|sarcoglycan complex|sarcolemma		g.chr5:155935636C>G	BX537948	CCDS47325.1, CCDS47326.1, CCDS47327.1	5q33-q34	2014-09-17	2002-08-29						10807	protein-coding gene	gene with protein product		601411	"sarcoglycan, delta (35kD dystrophin-associated glycoprotein)"			8776597, 8841194, 10974018	Standard	NM_000337		Approved	DAGD, LGMD2F, CMD1L	uc003lwd.4	Q92629		ENST00000435422.3:c.215C>G	5.37:g.155935636C>G	ENSP00000403003:p.Thr72Arg					SGCD_ENST00000337851.4_Missense_Mutation_p.T73R|SGCD_ENST00000447401.1_Missense_Mutation_p.T73R|SGCD_ENST00000517913.1_Missense_Mutation_p.T73R	p.T72R	NM_001128209.1	NP_001121681.1	Q92629	SGCD_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		3	702	+	Renal(175;0.00488)	Medulloblastoma(196;0.0378)|all_neural(177;0.106)	72					A8K9S9|Q53XA5|Q99644	Missense_Mutation	SNP	ENST00000435422.3	37	c.215C>G	CCDS47327.1	.	.	.	.	.	.	.	.	.	.	C	26.6	4.750218	0.89753	.	.	ENSG00000170624	ENST00000517913;ENST00000435422;ENST00000337851;ENST00000447401	D;D;D;D	0.94897	-3.55;-3.55;-3.55;-3.55	5.49	5.49	0.81192	.	0.050562	0.85682	D	0.000000	D	0.96685	0.8918	M	0.73598	2.24	0.80722	D	1	D;D;D	0.89917	0.997;0.997;1.0	D;D;D	0.85130	0.992;0.986;0.997	D	0.94763	0.7938	10	0.15066	T	0.55	-21.7325	17.9142	0.88944	0.0:1.0:0.0:0.0	.	72;73;73	Q92629;Q92629-2;Q92629-3	SGCD_HUMAN;.;.	R	73;72;73;73	ENSP00000429378:T73R;ENSP00000403003:T72R;ENSP00000338343:T73R;ENSP00000408324:T73R	ENSP00000338343:T73R	T	+	2	0	SGCD	155868214	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.380000	0.79704	2.732000	0.93576	0.585000	0.79938	ACA		0.413	SGCD-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000373469.3			13	45	0	0	0	0.001855	0	13	45					G	155935636	C	G	155935636	3	3	181	1	0	0	0	0	1	0	0	0	14201	478	17	5	228	5	SGCD	5	155935636	Missense_Mutation	SNP	C	TCGA-G9-6499-01A-12D-1961-08	15626763	155935636	24979624	13	8483											
GABRR1	2569	broad.mit.edu	37	chr6	89888605	89888605	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catgctcacatagctgcttcTctgacttttcctctgtgggg	5	15	9	12	0	3	1	1	1	2	0	5	1	4	1	1	2	3	3	1	2	1	4			TCGA-G9-6499-01A-12D-1961-08	TCGA-G9-6499-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fa7c553-f043-4ce7-9587-bb7ffc8d4b65	5fcb803a-2051-46ce-bd29-cc6ad5825bcd	g.chr6:89888605T>G	ENST00000454853.2	-	10	1434	c.1324A>C	c.(1324-1326)Aga>Cga	p.R442R	GABRR1_ENST00000369451.3_Silent_p.R355R|GABRR1_ENST00000435811.1_Silent_p.R425R	NM_001256704.1|NM_002042.4	NP_001243633.1|NP_002033.2	P24046	GBRR1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, rho 1	442					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(7)|lung(16)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	35		all_cancers(76;9.49e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.46e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;0.000114)		BRCA - Breast invasive adenocarcinoma(108;0.00917)	Adinazolam(DB00546)|Bromazepam(DB01558)|Cinolazepam(DB01594)|Clotiazepam(DB01559)|Diazepam(DB00829)|Estazolam(DB01215)|Fludiazepam(DB01567)|Flurazepam(DB00690)|Halazepam(DB00801)|Midazolam(DB00683)|Nitrazepam(DB01595)|Oxazepam(DB00842)|Prazepam(DB01588)|Quazepam(DB01589)|Temazepam(DB00231)|Triazolam(DB00897)	TAGCTGCTTCTCTGACTTTTC	0.478																																						ENST00000435811.1																			0				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(7)|lung(16)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	35						c.(1273-1275)Aga>Cga		gamma-aminobutyric acid (GABA) A receptor, rho 1	Picrotoxin(DB00466)						197	187	190					6																	89888605		2203	4300	6503	SO:0001819	synonymous_variant	2569				gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chr6:89888605T>G		CCDS5019.2, CCDS59028.1, CCDS59029.1	6q15	2012-06-22	2012-02-03		ENSG00000146276	ENSG00000146276		"GABA receptors", "Ligand-gated ion channels / GABA(A) receptors"	4090	protein-coding gene	gene with protein product	"GABA(A) receptor, rho 1"	137161	"gamma-aminobutyric acid (GABA) receptor, rho 1"			1849271, 1315307	Standard	NM_002042		Approved		uc003pna.2	P24046	OTTHUMG00000015195	ENST00000454853.2:c.1324A>C	6.37:g.89888605T>G						GABRR1_ENST00000454853.2_Silent_p.R442R|GABRR1_ENST00000369451.3_Silent_p.R355R	p.R425R	NM_001256703.1	NP_001243632.1	P24046	GBRR1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.00917)	9	1727	-		all_cancers(76;9.49e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.46e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;0.000114)	442					A1L401|B4DJK8|B4DQT5|B7ZBQ7|Q9BX06	Silent	SNP	ENST00000454853.2	37	c.1273A>C	CCDS5019.2																																																																																				0.478	GABRR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041479.2			14	100	0	0	0	0.001855	0	14	100					G	89888605	T	G	89888605	2	3	181	1	0	0	0	0	0	0	0	1	6176	1559	54	5		5	GABRR1	6	89888605	Silent	SNP	T	TCGA-G9-6499-01A-12D-1961-08		89888605	81226462	14	8484											
CDCA7L	55536	broad.mit.edu	37	chr7	21942672	21942672	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gattcctgtggcacagcggcCgtcacgcttccgacagtagc	7	8	12	14	4	1	0	1	0	0	0	3	2	3	0	3	2	2	3	3	2	1	3			TCGA-G9-6499-01A-12D-1961-08	TCGA-G9-6499-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fa7c553-f043-4ce7-9587-bb7ffc8d4b65	5fcb803a-2051-46ce-bd29-cc6ad5825bcd	g.chr7:21942672C>T	ENST00000406877.3	-	9	1537	c.1258G>A	c.(1258-1260)Ggc>Agc	p.G420S	CDCA7L_ENST00000373934.4_Missense_Mutation_p.G374S|CDCA7L_ENST00000465490.1_5'Flank|CDCA7L_ENST00000356195.5_Missense_Mutation_p.G386S	NM_018719.4	NP_061189.2	Q96GN5	CDA7L_HUMAN	cell division cycle associated 7-like	420					positive regulation of cell proliferation (GO:0008284)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(1)|urinary_tract(1)	29						GCACAGCGGCCGTCACGCTTC	0.483																																						ENST00000406877.3																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(1)|urinary_tract(1)	29						c.(1258-1260)Ggc>Agc		cell division cycle associated 7-like							85	78	80					7																	21942672		2203	4300	6503	SO:0001583	missense	55536				positive regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus		g.chr7:21942672C>T		CCDS5374.1, CCDS47558.1, CCDS47559.1	7p15.3	2007-04-27			ENSG00000164649	ENSG00000164649			30777	protein-coding gene	gene with protein product		609685				16829576	Standard	NM_018719		Approved	RAM2, R1, JPO2	uc010kuk.3	Q96GN5	OTTHUMG00000128429	ENST00000406877.3:c.1258G>A	7.37:g.21942672C>T	ENSP00000383986:p.Gly420Ser					CDCA7L_ENST00000356195.5_Missense_Mutation_p.G386S|CDCA7L_ENST00000373934.4_Missense_Mutation_p.G374S	p.G420S	NM_018719.4	NP_061189.2	Q96GN5	CDA7L_HUMAN			9	1537	-			420					A4D141|A6NF50|B3KTR5|B4DUT3|C9K0Y1|Q6PIL4|Q86YT0|Q8IXN5|Q96C70|Q9H9A2|Q9NPV2	Missense_Mutation	SNP	ENST00000406877.3	37	c.1258G>A	CCDS5374.1	.	.	.	.	.	.	.	.	.	.	C	36	5.869174	0.97049	.	.	ENSG00000164649	ENST00000356195;ENST00000406877;ENST00000373934;ENST00000435717	T;T;T	0.61510	0.16;0.17;0.1	5.58	5.58	0.84498	Zinc-finger domain of monoamine-oxidase A repressor R1 (1);	0.000000	0.85682	D	0.000000	D	0.82346	0.5017	M	0.91196	3.185	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.85501	0.1191	10	0.87932	D	0	-23.5745	19.9641	0.97260	0.0:1.0:0.0:0.0	.	374;420;419	C9K0Y1;Q96GN5;Q96GN5-2	.;CDA7L_HUMAN;.	S	386;420;374;71	ENSP00000348523:G386S;ENSP00000383986:G420S;ENSP00000363045:G374S	ENSP00000348523:G386S	G	-	1	0	CDCA7L	21909197	1.000000	0.71417	0.991000	0.47740	0.988000	0.76386	7.818000	0.86416	2.813000	0.96785	0.655000	0.94253	GGC		0.483	CDCA7L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250218.4	NM_018719		7	80	0	0	0	0.004482	0	7	80					T	21942672	C	T	21942672	3	4	181	1	0	0	0	0	1	0	0	0	3091	652	23	2	114	2	CDCA7L	7	21942672	Missense_Mutation	SNP	C	TCGA-G9-6499-01A-12D-1961-08		21942672	137195991	15	8485											
CDK13	8621	broad.mit.edu	37	chr7	40132728	40132728	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgactcagttaataaaggctCagcagtcaaagcagaaagat	17	8	9	7	0	3	3	3	1	0	2	3	3	3	3	0	1	2	4	0	1	5	2			TCGA-G9-6499-01A-12D-1961-08	TCGA-G9-6499-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fa7c553-f043-4ce7-9587-bb7ffc8d4b65	5fcb803a-2051-46ce-bd29-cc6ad5825bcd	g.chr7:40132728C>G	ENST00000181839.4	+	13	4185	c.3580C>G	c.(3580-3582)Cag>Gag	p.Q1194E	CDK13_ENST00000340829.5_Missense_Mutation_p.Q1134E	NM_003718.4|NM_031267.3	NP_003709.3|NP_112557.2	Q14004	CDK13_HUMAN	cyclin-dependent kinase 13	1194					alternative mRNA splicing, via spliceosome (GO:0000380)|hemopoiesis (GO:0030097)|multicellular organismal development (GO:0007275)|phosphorylation of RNA polymerase II C-terminal domain (GO:0070816)|positive regulation of cell proliferation (GO:0008284)|regulation of mitosis (GO:0007088)|viral process (GO:0016032)	cyclin K-CDK13 complex (GO:0002945)|extracellular space (GO:0005615)|nuclear cyclin-dependent protein kinase holoenzyme complex (GO:0019908)|nuclear speck (GO:0016607)	ATP binding (GO:0005524)|cyclin binding (GO:0030332)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(2)|prostate(2)|skin(5)|stomach(2)|urinary_tract(1)	49						AATAAAGGCTCAGCAGTCAAA	0.502																																						ENST00000181839.4																			0				cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(2)|prostate(2)|skin(5)|stomach(2)|urinary_tract(1)	49						c.(3580-3582)Cag>Gag		cyclin-dependent kinase 13							95	93	94					7																	40132728		2203	4300	6503	SO:0001583	missense	8621				alternative nuclear mRNA splicing, via spliceosome|hemopoiesis|interspecies interaction between organisms|phosphorylation of RNA polymerase II C-terminal domain|positive regulation of cell proliferation|regulation of mitosis	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity	g.chr7:40132728C>G	M80629	CCDS5461.1, CCDS5462.1	7p14.1	2011-11-08	2009-12-16	2009-12-16	ENSG00000065883	ENSG00000065883		"Cyclin-dependent kinases"	1733	protein-coding gene	gene with protein product	"cholinesterase-related cell division controller"	603309	"cell division cycle 2-like 5 (cholinesterase-related cell division controller)"	CDC2L5		1731328, 19884882	Standard	NM_003718		Approved	CHED, CDC2L, KIAA1791	uc003thh.4	Q14004	OTTHUMG00000023726	ENST00000181839.4:c.3580C>G	7.37:g.40132728C>G	ENSP00000181839:p.Gln1194Glu					CDK13_ENST00000340829.5_Missense_Mutation_p.Q1134E	p.Q1194E	NM_003718.4|NM_031267.3	NP_003709.3|NP_112557.2	Q14004	CDK13_HUMAN			13	4185	+			1194					Q53G78|Q6DKQ9|Q75MH4|Q75MH5|Q96JN4|Q9H4A0|Q9H4A1|Q9UDR4	Missense_Mutation	SNP	ENST00000181839.4	37	c.3580C>G	CCDS5461.1	.	.	.	.	.	.	.	.	.	.	C	27.9	4.870084	0.91587	.	.	ENSG00000065883	ENST00000181839;ENST00000340829	T;T	0.42131	0.98;0.98	5.68	5.68	0.88126	.	.	.	.	.	T	0.63838	0.2545	L	0.61218	1.895	0.49299	D	0.999779	D;D	0.61697	0.99;0.979	D;D	0.74348	0.979;0.983	T	0.58446	-0.7635	8	.	.	.	-10.5476	20.1615	0.98135	0.0:1.0:0.0:0.0	.	1134;1194	Q14004-2;Q14004	.;CDK13_HUMAN	E	1194;1134	ENSP00000181839:Q1194E;ENSP00000340557:Q1134E	.	Q	+	1	0	CDK13	40099253	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.343000	0.72986	2.835000	0.97688	0.650000	0.86243	CAG		0.502	CDK13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250726.2	NM_003718		32	165	0	0	0	0.008361	0	32	165					G	40132728	C	G	40132728	3	3	181	1	0	0	0	0	1	0	0	0	3129	827	29	5	3630	5	CDK13	7	40132728	Missense_Mutation	SNP	C	TCGA-G9-6499-01A-12D-1961-08	18190056	40132728	119005935	16	8486											
TYW1	55253	broad.mit.edu	37	chr7	66489943	66489943	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tttggtggtgaggaccatcaGagcctaaattccattgttga	10	13	11	7	0	1	3	1	2	0	1	2	4	2	4	3	3	1	1	3	3	2	5			TCGA-G9-6499-01A-12D-1961-08	TCGA-G9-6499-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fa7c553-f043-4ce7-9587-bb7ffc8d4b65	5fcb803a-2051-46ce-bd29-cc6ad5825bcd	g.chr7:66489943G>A	ENST00000359626.5	+	7	1082	c.918G>A	c.(916-918)caG>caA	p.Q306Q		NM_018264.2	NP_060734.2	Q9NV66	TYW1_HUMAN	tRNA-yW synthesizing protein 1 homolog (S. cerevisiae)	306					tRNA processing (GO:0008033)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|FMN binding (GO:0010181)|iron ion binding (GO:0005506)|lyase activity (GO:0016829)|oxidoreductase activity (GO:0016491)			breast(1)|endometrium(8)|kidney(10)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(3)|stomach(2)|urinary_tract(2)	46		Lung NSC(55;0.0846)|all_lung(88;0.183)				AGGACCATCAGAGCCTAAATT	0.418																																						ENST00000359626.5																			0				breast(1)|endometrium(8)|kidney(10)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(3)|stomach(2)|urinary_tract(2)	46						c.(916-918)caG>caA		tRNA-yW synthesizing protein 1 homolog (S. cerevisiae)							97	95	96					7																	66489943		2203	4298	6501	SO:0001819	synonymous_variant	55253				tRNA processing		4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity	g.chr7:66489943G>A	AK001762	CCDS5538.1	7q11.21	2007-11-29	2007-11-29	2007-11-29	ENSG00000198874	ENSG00000198874			25598	protein-coding gene	gene with protein product	"tRNA-yW synthesizing protein 1 homolog A (S. cerevisiae)"	611243	"radical S-adenosyl methionine and flavodoxin domains 1"	RSAFD1		16162496, 17150819	Standard	NM_018264		Approved	FLJ10900, MGC23001, MGC60291, YPL207W, TYW1A	uc003tvn.4	Q9NV66	OTTHUMG00000129723	ENST00000359626.5:c.918G>A	7.37:g.66489943G>A							p.Q306Q	NM_018264.2	NP_060734.2	Q9NV66	TYW1_HUMAN			7	1082	+		Lung NSC(55;0.0846)|all_lung(88;0.183)	306					Q6PJG8|Q75MG8|Q75MN3|Q86V12|Q8IVS7|Q9H9C4	Silent	SNP	ENST00000359626.5	37	c.918G>A	CCDS5538.1																																																																																				0.418	TYW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251932.2	NM_018264		6	120	0	0	0	0.001168	0	6	120					A	66489943	G	A	66489943	2	1	181	1	0	0	0	0	0	0	0	1	16815	933	33	3		3	TYW1	7	66489943	Silent	SNP	G	TCGA-G9-6499-01A-12D-1961-08	26357215	66489943	92648720	17	8487											
CNPY4	245812	broad.mit.edu	37	chr7	99720144	99720144	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccttagagaatttatgtgagCggatcctggactatagtgtt	10	14	11	6	1	0	2	0	1	0	1	1	5	1	4	2	2	1	1	2	2	5	6			TCGA-G9-6499-01A-12D-1961-08	TCGA-G9-6499-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fa7c553-f043-4ce7-9587-bb7ffc8d4b65	5fcb803a-2051-46ce-bd29-cc6ad5825bcd	g.chr7:99720144C>T	ENST00000262932.3	+	3	418	c.286C>T	c.(286-288)Cgg>Tgg	p.R96W	TAF6_ENST00000437822.2_5'Flank|CNPY4_ENST00000480692.1_3'UTR|RP11-506M12.1_ENST00000494221.1_RNA	NM_152755.1	NP_689968.1	Q8N129	CNPY4_HUMAN	canopy FGF signaling regulator 4	96						extracellular region (GO:0005576)				breast(2)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	7	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					TTTATGTGAGCGGATCCTGGA	0.522																																						ENST00000262932.3																			0				breast(2)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	7						c.(286-288)Cgg>Tgg		canopy FGF signaling regulator 4							119	127	124					7																	99720144		2203	4300	6503	SO:0001583	missense	245812					extracellular region		g.chr7:99720144C>T	AK075537	CCDS34701.1	7q22.1	2013-07-23	2013-07-23		ENSG00000166997	ENSG00000166997			28631	protein-coding gene	gene with protein product	"protein associated with TLR4"	610047	"canopy 4 homolog (zebrafish)"			12975309	Standard	NM_152755		Approved	MGC40499, PRAT4B	uc003uto.3	Q8N129	OTTHUMG00000154817	ENST00000262932.3:c.286C>T	7.37:g.99720144C>T	ENSP00000262932:p.Arg96Trp					RP11-506M12.1_ENST00000494221.1_RNA|CNPY4_ENST00000480692.1_3'UTR	p.R96W	NM_152755.1	NP_689968.1	Q8N129	CNPY4_HUMAN			3	418	+	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		96					Q8WUN9	Missense_Mutation	SNP	ENST00000262932.3	37	c.286C>T	CCDS34701.1	.	.	.	.	.	.	.	.	.	.	C	19.86	3.906403	0.72868	.	.	ENSG00000166997	ENST00000262932	T	0.39787	1.06	5.39	3.5	0.40072	.	0.134164	0.49305	D	0.000142	T	0.62270	0.2414	M	0.82823	2.61	0.45914	D	0.99875	D	0.76494	0.999	D	0.63597	0.916	T	0.65286	-0.6205	10	0.87932	D	0	-9.8972	10.7187	0.46028	0.3468:0.6532:0.0:0.0	.	96	Q8N129	CNPY4_HUMAN	W	96	ENSP00000262932:R96W	ENSP00000262932:R96W	R	+	1	2	CNPY4	99558080	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	0.886000	0.28241	0.571000	0.29365	0.561000	0.74099	CGG		0.522	CNPY4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337224.4	NM_152755		75	190	0	0	0	0.01441	0	75	190					T	99720144	C	T	99720144	3	4	181	1	0	0	0	0	1	0	0	0	3630	759	27	1	296	1	CNPY4	7	99720144	Missense_Mutation	SNP	C	TCGA-G9-6499-01A-12D-1961-08	33230201	99720144	59418519	18	8488											
ZC3H3	23144	broad.mit.edu	37	chr8	144620720	144620720	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cactgagccagacggaactgGctgatctgtgtggccagcat	9	8	13	11	1	1	3	0	2	1	1	1	4	1	4	2	3	3	2	2	3	1	0			TCGA-G9-6499-01A-12D-1961-08	TCGA-G9-6499-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fa7c553-f043-4ce7-9587-bb7ffc8d4b65	5fcb803a-2051-46ce-bd29-cc6ad5825bcd	g.chr8:144620720G>T	ENST00000262577.5	-	2	848	c.817C>A	c.(817-819)Cca>Aca	p.P273T		NM_015117.2	NP_055932.2	Q8IXZ2	ZC3H3_HUMAN	zinc finger CCCH-type containing 3	273					mRNA polyadenylation (GO:0006378)|poly(A)+ mRNA export from nucleus (GO:0016973)|regulation of mRNA export from nucleus (GO:0010793)	nucleus (GO:0005634)	metal ion binding (GO:0046872)			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	23	all_cancers(97;8.64e-11)|all_epithelial(106;6.43e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.107)			GACGGAACTGGCTGATCTGTG	0.652																																						ENST00000262577.5																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	23						c.(817-819)Cca>Aca		zinc finger CCCH-type containing 3							35	41	39					8																	144620720		2203	4299	6502	SO:0001583	missense	23144				mRNA polyadenylation|poly(A)+ mRNA export from nucleus|regulation of mRNA export from nucleus	nucleus	nucleic acid binding|zinc ion binding	g.chr8:144620720G>T	D63484	CCDS6402.1	8q24.3	2012-07-05	2005-06-02	2005-06-02	ENSG00000014164	ENSG00000014164		"Zinc fingers, CCCH-type domain containing"	28972	protein-coding gene	gene with protein product			"zinc finger CCCH-type domain containing 3"	ZC3HDC3		8590280	Standard	NM_015117		Approved	KIAA0150	uc003yyd.2	Q8IXZ2	OTTHUMG00000165127	ENST00000262577.5:c.817C>A	8.37:g.144620720G>T	ENSP00000262577:p.Pro273Thr						p.P273T	NM_015117.2	NP_055932.2	Q8IXZ2	ZC3H3_HUMAN	Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.107)		2	848	-	all_cancers(97;8.64e-11)|all_epithelial(106;6.43e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		273					Q14163|Q8N4E2|Q9BUS4	Missense_Mutation	SNP	ENST00000262577.5	37	c.817C>A	CCDS6402.1	.	.	.	.	.	.	.	.	.	.	G	2.492	-0.317207	0.05386	.	.	ENSG00000014164	ENST00000262577	T	0.03358	3.96	5.49	1.32	0.21799	.	1.038790	0.07614	N	0.925870	T	0.04272	0.0118	L	0.54323	1.7	0.09310	N	1	B	0.17852	0.024	B	0.17433	0.018	T	0.48186	-0.9057	10	0.21014	T	0.42	0.0621	3.4495	0.07493	0.1527:0.1123:0.5063:0.2287	.	273	Q8IXZ2	ZC3H3_HUMAN	T	273	ENSP00000262577:P273T	ENSP00000262577:P273T	P	-	1	0	ZC3H3	144691863	0.010000	0.17322	0.008000	0.14137	0.162000	0.22319	0.573000	0.23699	0.636000	0.30508	0.655000	0.94253	CCA		0.652	ZC3H3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382011.2	NM_015117		18	144	1	0	3.41278e-10	0.00499	6.44637e-10	18	144					T	144620720	G	T	144620720	3	4	181	1	0	0	0	0	1	0	0	0	17566	1203	42	5	2073	5	ZC3H3	8	144620720	Missense_Mutation	SNP	G	TCGA-G9-6499-01A-12D-1961-08		144620720	1743302	19	8489											
ADAMTSL2	9719	broad.mit.edu	37	chr9	136405789	136405789	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtggacggccagcggcagcTcatggtccccgcccgcgacg	5	4	15	17	7	1	0	1	0	0	0	2	2	2	1	4	4	2	2	4	4	0	0			TCGA-G9-6499-01A-12D-1961-08	TCGA-G9-6499-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fa7c553-f043-4ce7-9587-bb7ffc8d4b65	5fcb803a-2051-46ce-bd29-cc6ad5825bcd	g.chr9:136405789T>A	ENST00000354484.4	+	6	1039	c.482T>A	c.(481-483)cTc>cAc	p.L161H	ADAMTSL2_ENST00000393060.1_Missense_Mutation_p.L161H|ADAMTSL2_ENST00000393061.3_Missense_Mutation_p.L270H	NM_001145320.1	NP_001138792.1	Q86TH1	ATL2_HUMAN	ADAMTS-like 2	161					negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			kidney(2)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(145;9.31e-08)|Epithelial(140;6.62e-07)|all cancers(34;7.74e-06)		CAGCGGCAGCTCATGGTCCCC	0.557																																						ENST00000393061.3																			0				kidney(2)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	14						c.(808-810)cTc>cAc		ADAMTS-like 2							56	45	49					9																	136405789		2203	4300	6503	SO:0001583	missense	9719				negative regulation of transforming growth factor beta receptor signaling pathway	proteinaceous extracellular matrix	metalloendopeptidase activity|protein binding|zinc ion binding	g.chr9:136405789T>A	AB011177	CCDS6976.1	9q34.3	2005-01-12			ENSG00000197859	ENSG00000197859			14631	protein-coding gene	gene with protein product		612277				9628581, 14667842	Standard	NM_014694		Approved	KIAA0605	uc004cei.3	Q86TH1	OTTHUMG00000131706	ENST00000354484.4:c.482T>A	9.37:g.136405789T>A	ENSP00000346478:p.Leu161His					ADAMTSL2_ENST00000354484.4_Missense_Mutation_p.L161H|ADAMTSL2_ENST00000393060.1_Missense_Mutation_p.L161H	p.L270H			Q86TH1	ATL2_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;9.31e-08)|Epithelial(140;6.62e-07)|all cancers(34;7.74e-06)	6	1241	+			161					B1B0D5|O60345	Missense_Mutation	SNP	ENST00000354484.4	37	c.809T>A	CCDS6976.1	.	.	.	.	.	.	.	.	.	.	T	25.0	4.592613	0.86953	.	.	ENSG00000197859	ENST00000354484;ENST00000393061;ENST00000393060	T;T;T	0.59906	0.23;0.23;0.23	4.58	4.58	0.56647	.	0.000000	0.53938	U	0.000052	T	0.75781	0.3896	M	0.80332	2.49	0.53005	D	0.99996	D	0.89917	1.0	D	0.97110	1.0	T	0.77856	-0.2432	10	0.45353	T	0.12	.	13.9549	0.64142	0.0:0.0:0.0:1.0	.	161	Q86TH1	ATL2_HUMAN	H	161;270;161	ENSP00000346478:L161H;ENSP00000376781:L270H;ENSP00000376780:L161H	ENSP00000346478:L161H	L	+	2	0	ADAMTSL2	135395610	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	7.640000	0.83355	1.701000	0.51217	0.379000	0.24179	CTC		0.557	ADAMTSL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254619.1	NM_014694		18	54	0	0	0	0.010504	0	18	54					A	136405789	T	A	136405789	3	1	181	1	0	0	0	0	1	0	0	0	275	1551	54	5	500	5	ADAMTSL2	9	136405789	Missense_Mutation	SNP	T	TCGA-G9-6499-01A-12D-1961-08		136405789	4807642	20	8490											
CD248	57124	broad.mit.edu	37	chr11	66083697	66083697	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggggtcctcgcaactgcgccCgtctgctgccagccggaagc	5	6	14	16	4	1	0	0	0	1	0	3	1	2	1	4	3	6	2	4	3	2	0			TCGA-G9-6499-01A-12D-1961-08	TCGA-G9-6499-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fa7c553-f043-4ce7-9587-bb7ffc8d4b65	5fcb803a-2051-46ce-bd29-cc6ad5825bcd	g.chr11:66083697C>G	ENST00000311330.3	-	1	818	c.802G>C	c.(802-804)Ggg>Cgg	p.G268R	RP11-867G23.13_ENST00000534065.1_RNA	NM_020404.2	NP_065137.1	Q9HCU0	CD248_HUMAN	CD248 molecule, endosialin	268					anatomical structure regression (GO:0060033)|cell migration (GO:0016477)|lymph node development (GO:0048535)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell apoptotic process (GO:2000353)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|extracellular matrix binding (GO:0050840)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	26						CAACTGCGCCCGTCTGCTGCC	0.672																																						ENST00000311330.3																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	26						c.(802-804)Ggg>Cgg		CD248 molecule, endosialin	Cefalotin(DB00456)						27	36	33					11																	66083697		2200	4292	6492	SO:0001583	missense	57124					integral to membrane|proteinaceous extracellular matrix	calcium ion binding|sugar binding	g.chr11:66083697C>G	AF279142	CCDS8134.1	11q13	2006-04-12	2006-03-28	2005-02-11	ENSG00000174807	ENSG00000174807		"CD molecules"	18219	protein-coding gene	gene with protein product	"endosialin", "tumor endothelial marker 1"	606064	"CD164 sialomucin-like 1", "CD248 antigen, endosialin"	CD164L1		10947988, 11084048	Standard	NM_020404		Approved	TEM1	uc001ohm.1	Q9HCU0	OTTHUMG00000167073	ENST00000311330.3:c.802G>C	11.37:g.66083697C>G	ENSP00000308117:p.Gly268Arg					RP11-867G23.13_ENST00000534065.1_RNA	p.G268R	NM_020404.2	NP_065137.1	Q9HCU0	CD248_HUMAN			1	818	-			268					Q2M2V5|Q3SX55|Q96KB6	Missense_Mutation	SNP	ENST00000311330.3	37	c.802G>C	CCDS8134.1	.	.	.	.	.	.	.	.	.	.	C	19.41	3.821324	0.71028	.	.	ENSG00000174807	ENST00000311330	D	0.97089	-4.24	4.08	4.08	0.47627	Epidermal growth factor-like (1);	0.000000	0.85682	D	0.000000	D	0.97272	0.9108	L	0.42487	1.325	0.45914	D	0.998755	D	0.89917	1.0	D	0.85130	0.997	D	0.97572	1.0105	10	0.62326	D	0.03	-23.87	13.7729	0.63036	0.0:1.0:0.0:0.0	.	268	Q9HCU0	CD248_HUMAN	R	268	ENSP00000308117:G268R	ENSP00000308117:G268R	G	-	1	0	CD248	65840273	0.995000	0.38212	0.953000	0.39169	0.979000	0.70002	3.197000	0.51028	2.107000	0.64212	0.462000	0.41574	GGG		0.672	CD248-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392922.2	NM_020404		7	40	0	0	0	0.00308	0	7	40					G	66083697	C	G	66083697	3	3	181	1	0	0	0	0	1	0	0	0	2989	652	23	5	1475	5	CD248	11	66083697	Missense_Mutation	SNP	C	TCGA-G9-6499-01A-12D-1961-08		66083697	68922819	21	8491											
AMOTL1	154810	broad.mit.edu	37	chr11	94533202	94533202	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aagcaacaccttcccggctcGgggaatggaaagggcttcaa	12	6	12	11	2	1	0	1	0	0	0	3	2	2	2	2	5	2	3	2	5	5	2	rs571152175		TCGA-G9-6499-01A-12D-1961-08	TCGA-G9-6499-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fa7c553-f043-4ce7-9587-bb7ffc8d4b65	5fcb803a-2051-46ce-bd29-cc6ad5825bcd	g.chr11:94533202G>T	ENST00000433060.2	+	3	987	c.846G>T	c.(844-846)tcG>tcT	p.S282S	AMOTL1_ENST00000317837.9_Silent_p.S282S|AMOTL1_ENST00000317829.8_Silent_p.S232S	NM_130847.2	NP_570899.1	Q8IY63	AMOL1_HUMAN	angiomotin like 1	282					establishment of cell polarity involved in ameboidal cell migration (GO:0003365)|hippo signaling (GO:0035329)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|Wnt signaling pathway (GO:0016055)	apical plasma membrane (GO:0016324)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|tight junction (GO:0005923)	identical protein binding (GO:0042802)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(2)	36		Acute lymphoblastic leukemia(157;2.38e-05)|all_hematologic(158;0.00824)				TTCCCGGCTCGGGGAATGGAA	0.627																																						ENST00000433060.2																			0				autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(2)	36						c.(844-846)tcG>tcT		angiomotin like 1																																				SO:0001819	synonymous_variant	154810					cytoplasm|tight junction	identical protein binding	g.chr11:94533202G>T	AF453742	CCDS44712.1, CCDS73368.1	11q21	2008-07-18				ENSG00000166025			17811	protein-coding gene	gene with protein product	"junction-enriched and associated protein"	614657				11733531	Standard	XM_005273798		Approved	JEAP	uc001pfb.3	Q8IY63		ENST00000433060.2:c.846G>T	11.37:g.94533202G>T						AMOTL1_ENST00000317829.8_Silent_p.S232S|AMOTL1_ENST00000317837.9_Silent_p.S282S	p.S282S	NM_130847.2	NP_570899.1	Q8IY63	AMOL1_HUMAN			3	987	+		Acute lymphoblastic leukemia(157;2.38e-05)|all_hematologic(158;0.00824)	282					Q63HK7|Q8NDN0|Q8TEN8|Q8WXD1|Q96CM5	Silent	SNP	ENST00000433060.2	37	c.846G>T	CCDS44712.1																																																																																				0.627	AMOTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396474.3	NM_130847		4	132	1	0	0.000602214	0.000602	0.00109689	4	132					T	94533202	G	T	94533202	2	4	181	1	0	0	0	0	0	0	0	1	583	1103	39	5		5	AMOTL1	11	94533202	Silent	SNP	G	TCGA-G9-6499-01A-12D-1961-08	28449505	94533202	40473314	22	8492											
OR6T1	219874	broad.mit.edu	37	chr11	123813655	123813655	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcttctctcagtgcttgctgCaccttgtcattgcggagagt	5	14	11	11	1	3	1	2	0	1	1	4	2	3	1	1	1	4	4	1	1	0	4			TCGA-G9-6499-01A-12D-1961-08	TCGA-G9-6499-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fa7c553-f043-4ce7-9587-bb7ffc8d4b65	5fcb803a-2051-46ce-bd29-cc6ad5825bcd	g.chr11:123813655C>A	ENST00000321252.2	-	1	925	c.891G>T	c.(889-891)gtG>gtT	p.V297V		NM_001005187.1	NP_001005187.1	Q8NGN1	OR6T1_HUMAN	olfactory receptor, family 6, subfamily T, member 1	297						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401)		GTGCTTGCTGCACCTTGTCAT	0.502																																						ENST00000321252.2																			0				breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						c.(889-891)gtG>gtT		olfactory receptor, family 6, subfamily T, member 1							200	182	188					11																	123813655		2202	4299	6501	SO:0001819	synonymous_variant	219874				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:123813655C>A	AB065759	CCDS31700.1	11q24.1	2012-08-09			ENSG00000181499	ENSG00000181499		"GPCR / Class A : Olfactory receptors"	14848	protein-coding gene	gene with protein product							Standard	NM_001005187		Approved		uc010sab.2	Q8NGN1	OTTHUMG00000165962	ENST00000321252.2:c.891G>T	11.37:g.123813655C>A							p.V297V	NM_001005187.1	NP_001005187.1	Q8NGN1	OR6T1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401)	1	925	-		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	297					Q6IFE7	Silent	SNP	ENST00000321252.2	37	c.891G>T	CCDS31700.1																																																																																				0.502	OR6T1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387264.1	NM_001005187		26	295	1	0	2.65835e-16	0.007291	5.31669e-16	26	295					A	123813655	C	A	123813655	2	1	181	1	0	0	0	0	0	0	0	1	11210	697	25	5		5	OR6T1	11	123813655	Silent	SNP	C	TCGA-G9-6499-01A-12D-1961-08	29280453	123813655	11192861	23	8493											
ARID2	196528	broad.mit.edu	37	chr12	46246100	46246100	+	Frame_Shift_Del	DEL	T	T	-																															ccaatggaaccacaagggacTttagatatcactcagcaaga																										TCGA-G9-6499-01A-12D-1961-08	TCGA-G9-6499-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fa7c553-f043-4ce7-9587-bb7ffc8d4b65	5fcb803a-2051-46ce-bd29-cc6ad5825bcd	g.chr12:46246100delT	ENST00000334344.6	+	15	4366	c.4194delT	c.(4192-4194)actfs	p.T1398fs	ARID2_ENST00000422737.1_Frame_Shift_Del_p.T1249fs|ARID2_ENST00000457135.1_Frame_Shift_Del_p.T6fs|ARID2_ENST00000479608.1_3'UTR|ARID2_ENST00000444670.1_Frame_Shift_Del_p.T1008fs	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	1398					chromatin modification (GO:0016568)|nucleosome disassembly (GO:0006337)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		CACAAGGGACTTTAGATATCA	0.368			"N, S, F"		hepatocellular carcinoma																																	ENST00000334344.6				Rec	yes		12	12q12	196528	"N, S, F"	AT rich interactive domain 2			E			hepatocellular carcinoma		0				NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116						c.(4192-4194)acfs		AT rich interactive domain 2 (ARID, RFX-like)							69	68	69					12																	46246100		2203	4300	6503	SO:0001589	frameshift_variant	196528				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr12:46246100delT		CCDS31783.1	12q13.11	2013-02-07			ENSG00000189079	ENSG00000189079		"-"	18037	protein-coding gene	gene with protein product		609539					Standard	NM_152641		Approved	KIAA1557, DKFZp686G052, FLJ30619, BAF200	uc001ros.1	Q68CP9	OTTHUMG00000150487	ENST00000334344.6:c.4194delT	12.37:g.46246100delT	ENSP00000335044:p.Thr1398fs					ARID2_ENST00000457135.1_Frame_Shift_Del_p.T6fs|ARID2_ENST00000444670.1_Frame_Shift_Del_p.T1008fs|ARID2_ENST00000479608.1_3'UTR|ARID2_ENST00000422737.1_Frame_Shift_Del_p.T1249fs	p.T1398fs	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)	15	4366	+	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	1398					Q15KG9|Q5EB51|Q645I3|Q6ZRY5|Q7Z3I5|Q86T28|Q96SJ6|Q9HCL5	Frame_Shift_Del	DEL	ENST00000334344.6	37	c.4194delT	CCDS31783.1																																																																																				0.368	ARID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318380.2	XM_350875		13	64						13	64	---	---	---	---	-	46246100	T	-	46246100	7	5	181	1	0	1	0	1	0	0	0	0	915	1596	56	0	4252	0	ARID2	12	46246100	Frame_Shift_Del	DEL	T	TCGA-G9-6499-01A-12D-1961-08		46246100	87605795	24	8494											
CD63	967	broad.mit.edu	37	chr12	56119956	56119956	+	Frame_Shift_Del	DEL	A	A	-																															atcccacagcccacagtaacAttaatgcagcaggagtcggg																										TCGA-G9-6499-01A-12D-1961-08	TCGA-G9-6499-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fa7c553-f043-4ce7-9587-bb7ffc8d4b65	5fcb803a-2051-46ce-bd29-cc6ad5825bcd	g.chr12:56119956delA	ENST00000549117.1	-	6	952	c.516delT	c.(514-516)aatfs	p.N172fs	CD63_ENST00000420846.3_Frame_Shift_Del_p.N172fs|CD63_ENST00000548898.1_Frame_Shift_Del_p.N79fs|CD63_ENST00000552692.1_Frame_Shift_Del_p.N172fs|CD63_ENST00000546939.1_Frame_Shift_Del_p.N90fs|CD63_ENST00000550776.1_Frame_Shift_Del_p.N90fs|CD63_ENST00000257857.4_Frame_Shift_Del_p.N172fs|CD63_ENST00000552067.1_Frame_Shift_Del_p.N79fs|CD63_ENST00000552754.1_Frame_Shift_Del_p.N149fs|CD63_ENST00000548160.1_Frame_Shift_Del_p.N79fs|RP11-644F5.11_ENST00000552576.1_RNA	NM_001257389.1	NP_001244318.1	P08962	CD63_HUMAN	CD63 molecule	172					blood coagulation (GO:0007596)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cellular protein localization (GO:0034613)|endosome to melanosome transport (GO:0035646)|pigment granule maturation (GO:0048757)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of integrin-mediated signaling pathway (GO:2001046)|positive regulation of receptor internalization (GO:0002092)|protein transport (GO:0015031)|regulation of rubidium ion transport (GO:2000680)|regulation of vascular endothelial growth factor signaling pathway (GO:1900746)	cell surface (GO:0009986)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|multivesicular body, internal vesicle (GO:0097487)|plasma membrane (GO:0005886)|platelet dense granule membrane (GO:0031088)				kidney(1)|large_intestine(3)|lung(2)|ovary(1)	7						CCACAGTAACATTAATGCAGC	0.498																																					Pancreas(123;1459 1747 6717 18841 37380)	ENST00000549117.1																			0				kidney(1)|large_intestine(3)|lung(2)|ovary(1)	7						c.(514-516)aafs		CD63 molecule							100	99	99					12																	56119956		2203	4300	6503	SO:0001589	frameshift_variant	0				platelet activation|platelet degranulation	integral to plasma membrane|late endosome membrane|lysosomal membrane|platelet dense granule membrane		g.chr12:56119956delA	M58485	CCDS8890.1, CCDS58242.1, CCDS58243.1	12q12-q13	2013-02-14	2006-03-28					"CD molecules", "Tetraspanins"	1692	protein-coding gene	gene with protein product		155740	"CD63 antigen (melanoma 1 antigen)"	MLA1			Standard	NM_001780		Approved	ME491, TSPAN30	uc031qhv.1	P08962		ENST00000549117.1:c.516delT	12.37:g.56119956delA	ENSP00000447730:p.Asn172fs					CD63_ENST00000420846.3_Frame_Shift_Del_p.N172fs|CD63_ENST00000257857.4_Frame_Shift_Del_p.N172fs|CD63_ENST00000552754.1_Frame_Shift_Del_p.N149fs|CD63_ENST00000552067.1_Frame_Shift_Del_p.N79fs|CD63_ENST00000552692.1_Frame_Shift_Del_p.N172fs|CD63_ENST00000548160.1_Frame_Shift_Del_p.N79fs|CD63_ENST00000546939.1_Frame_Shift_Del_p.N90fs|CD63_ENST00000550776.1_Frame_Shift_Del_p.N90fs|CD63_ENST00000548898.1_Frame_Shift_Del_p.N79fs	p.N172fs	NM_001257389.1	NP_001244318.1	P08962	CD63_HUMAN			6	952	-			172					F8VZE2|Q5TZP3|Q8N6Z9|Q9UCG6	Frame_Shift_Del	DEL	ENST00000549117.1	37	c.516delT	CCDS8890.1																																																																																				0.498	CD63-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000409234.1			13	99						13	99	---	---	---	---	-	56119956	A	-	56119956	7	5	181	1	0	1	0	1	0	0	0	0	3029	214	8	0	212	0	CD63	12	56119956	Frame_Shift_Del	DEL	A	TCGA-G9-6499-01A-12D-1961-08	9873856	56119956	77731939	25	8495											
ATP6V0A2	23545	broad.mit.edu	37	chr12	124212379	124212379	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aagtggaagcatttgaaaaaAtgttgtggagagtctgcaaa	16	10	12	3	0	1	2	0	1	1	1	1	4	1	3	0	2	2	3	0	2	6	2			TCGA-G9-6499-01A-12D-1961-08	TCGA-G9-6499-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fa7c553-f043-4ce7-9587-bb7ffc8d4b65	5fcb803a-2051-46ce-bd29-cc6ad5825bcd	g.chr12:124212379A>C	ENST00000330342.3	+	6	819	c.571A>C	c.(571-573)Atg>Ctg	p.M191L		NM_012463.3	NP_036595.2	Q9Y487	VPP2_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit a2	191					ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|immune response (GO:0006955)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	acrosomal vesicle (GO:0001669)|cytoplasm (GO:0005737)|endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)|vacuolar proton-transporting V-type ATPase, V0 domain (GO:0000220)	hydrogen ion transmembrane transporter activity (GO:0015078)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|liver(1)|lung(10)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	26	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000224)|Epithelial(86;0.000625)|all cancers(50;0.00775)		ATTTGAAAAAATGTTGTGGAG	0.408																																						ENST00000330342.3																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|liver(1)|lung(10)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	26						c.(571-573)Atg>Ctg		ATPase, H+ transporting, lysosomal V0 subunit a2							132	126	128					12																	124212379		2203	4300	6503	SO:0001583	missense	23545				ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|immune response|insulin receptor signaling pathway|transferrin transport	endosome membrane|integral to membrane|plasma membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	hydrogen ion transmembrane transporter activity|protein binding	g.chr12:124212379A>C	AF112972	CCDS9254.1	12q24.31	2010-04-21	2006-01-20		ENSG00000185344	ENSG00000185344		"ATPases / V-type"	18481	protein-coding gene	gene with protein product	"infantile malignant osteopetrosis"	611716	"infantile malignant osteopetrosis", "ATPase, H+ transporting, lysosomal V0 subunit a isoform 2", "ATPase, H+ transporting, lysosomal V0 subunit A2"			2247090, 18157129	Standard	NM_012463		Approved	TJ6, a2, TJ6s, TJ6M, ATP6a2, J6B7, ATP6N1D, Vph1, Stv1	uc001ufr.3	Q9Y487	OTTHUMG00000168723	ENST00000330342.3:c.571A>C	12.37:g.124212379A>C	ENSP00000332247:p.Met191Leu						p.M191L	NM_012463.3	NP_036595.2	Q9Y487	VPP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000224)|Epithelial(86;0.000625)|all cancers(50;0.00775)	6	819	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		191					A8K026|Q6NUM0	Missense_Mutation	SNP	ENST00000330342.3	37	c.571A>C	CCDS9254.1	.	.	.	.	.	.	.	.	.	.	A	13.18	2.160915	0.38119	.	.	ENSG00000185344	ENST00000330342;ENST00000541854;ENST00000504192	D;D	0.84589	-1.87;-1.87	5.85	5.85	0.93711	.	0.000000	0.85682	D	0.000000	D	0.85792	0.5779	N	0.17764	0.52	0.80722	D	1	B;P	0.49696	0.003;0.927	B;D	0.66602	0.007;0.945	D	0.83580	0.0117	10	0.21014	T	0.42	-44.7046	16.2483	0.82460	1.0:0.0:0.0:0.0	.	191;191	Q9Y487;Q8TBM3	VPP2_HUMAN;.	L	191;191;61	ENSP00000332247:M191L;ENSP00000443441:M61L	ENSP00000332247:M191L	M	+	1	0	ATP6V0A2	122778332	1.000000	0.71417	0.750000	0.31169	0.990000	0.78478	9.263000	0.95617	2.237000	0.73441	0.459000	0.35465	ATG		0.408	ATP6V0A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400765.2	NM_012463		23	61	0	0	0	0.012319	0	23	61					C	124212379	A	C	124212379	3	2	181	1	0	0	0	0	1	0	0	0	1169	101	4	5	593	5	ATP6V0A2	12	124212379	Missense_Mutation	SNP	A	TCGA-G9-6499-01A-12D-1961-08	68092423	124212379	9639516	26	8496											
UBC	7316	broad.mit.edu	37	chr12	125397652	125397652	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atcccacctctgagacggagTaccaggtgcaaggtggactc	10	7	12	12	1	1	1	0	1	1	1	3	4	2	3	3	4	2	2	3	4	2	1	rs533073686	byFrequency	TCGA-G9-6499-01A-12D-1961-08	TCGA-G9-6499-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fa7c553-f043-4ce7-9587-bb7ffc8d4b65	5fcb803a-2051-46ce-bd29-cc6ad5825bcd	g.chr12:125397652T>C	ENST00000536769.1	-	1	2242	c.666A>G	c.(664-666)gtA>gtG	p.V222V	UBC_ENST00000546120.1_Silent_p.V146V|UBC_ENST00000339647.5_Silent_p.V222V|MIR5188_ENST00000583467.1_RNA|UBC_ENST00000536661.1_5'Flank|UBC_ENST00000538617.1_Intron			P0CG48	UBC_HUMAN	ubiquitin C	222	Ubiquitin-like 3. {ECO:0000255|PROSITE- ProRule:PRU00214}.				activation of MAPK activity (GO:0000187)|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|carbohydrate metabolic process (GO:0005975)|cellular response to hypoxia (GO:0071456)|cytokine-mediated signaling pathway (GO:0019221)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|endosomal transport (GO:0016197)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|intracellular transport of virus (GO:0075733)|ion transmembrane transport (GO:0034220)|JNK cascade (GO:0007254)|membrane organization (GO:0061024)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of type I interferon production (GO:0032480)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of apoptotic process (GO:0043065)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of type I interferon production (GO:0032479)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|stress-activated MAPK cascade (GO:0051403)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|transmembrane transport (GO:0055085)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral protein processing (GO:0019082)|virion assembly (GO:0019068)	cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|protease binding (GO:0002020)			breast(3)|endometrium(4)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308)		TGAGACGGAGTACCAGGTGCA	0.512													-|||	5	0.000998403	0	0	5008	,	,		27834	0.004		0	False		,,,				2504	0.001					ENST00000536769.1																			0				breast(3)|endometrium(4)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(664-666)gtA>gtG		ubiquitin C							228	202	211					12																	125397652		2203	4299	6502	SO:0001819	synonymous_variant	7316				activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|viral reproduction	cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane	protein binding	g.chr12:125397652T>C		CCDS9260.1	12q24.3	2008-09-08			ENSG00000150991	ENSG00000150991			12468	protein-coding gene	gene with protein product	"polyubiquitin-C"	191340				1315303, 11872750	Standard	NM_021009		Approved		uc001ugs.4	P0CG48		ENST00000536769.1:c.666A>G	12.37:g.125397652T>C						UBC_ENST00000339647.5_Silent_p.V222V|UBC_ENST00000538617.1_Intron|UBC_ENST00000546120.1_Silent_p.V146V	p.V222V			P0CG48	UBC_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308)	1	2242	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		222			Ubiquitin-like 3.		P02248|P02249|P02250|P62988|Q29120|Q6LBL4|Q6LDU5|Q8WYN8|Q91887|Q91888|Q9BWD6|Q9BX98|Q9UEF2|Q9UEG1|Q9UEK8|Q9UPK7	Silent	SNP	ENST00000536769.1	37	c.666A>G	CCDS9260.1																																																																																				0.512	UBC-007	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400177.1	NM_021009		4	134	0	0	0	0.000602	0	4	134					C	125397652	T	C	125397652	2	2	181	1	0	0	0	0	0	0	0	1	16839	1625	57	4		4	UBC	12	125397652	Silent	SNP	T	TCGA-G9-6499-01A-12D-1961-08	1185273	125397652	8454243	27	8497											
INO80	54617	broad.mit.edu	37	chr15	41319812	41319813	+	Frame_Shift_Ins	INS	-	-	A																															ctcgtggactggccacacacINSaaaaaagatggcagctcagt																										TCGA-G9-6499-01A-12D-1961-08	TCGA-G9-6499-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fa7c553-f043-4ce7-9587-bb7ffc8d4b65	5fcb803a-2051-46ce-bd29-cc6ad5825bcd	g.chr15:41319812_41319813insA	ENST00000361937.3	-	25	3453_3454	c.3029_3030insT	c.(3028-3030)ttgfs	p.L1010fs	RP11-540O11.4_ENST00000560178.1_RNA|INO80_ENST00000401393.3_Frame_Shift_Ins_p.L1010fs			Q9ULG1	INO80_HUMAN	INO80 complex subunit	1010	Assembles INO80 complex module consisting of conserved components INO80B, INO80C, ACTR5, RVBL1, RVBL2.				ATP catabolic process (GO:0006200)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|chromatin remodeling (GO:0006338)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|mitotic sister chromatid segregation (GO:0000070)|positive regulation of cell growth (GO:0030307)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of G1/S transition of mitotic cell cycle (GO:2000045)|spindle assembly (GO:0051225)|UV-damage excision repair (GO:0070914)	Ino80 complex (GO:0031011)|microtubule (GO:0005874)|nucleus (GO:0005634)	alpha-tubulin binding (GO:0043014)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)			NS(1)|breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						TGGCCACACACAAAAAAGATGG	0.47																																						ENST00000361937.3																			0				NS(1)|breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						c.(3028-3030)ttgfs		INO80 complex subunit																																				SO:0001589	frameshift_variant	54617				cell division|cellular response to ionizing radiation|cellular response to UV|chromatin remodeling|double-strand break repair via homologous recombination|mitotic sister chromatid segregation|positive regulation of cell growth|positive regulation of DNA replication involved in S phase|positive regulation of transcription from RNA polymerase II promoter|regulation of G1/S transition of mitotic cell cycle|spindle assembly|UV-damage excision repair	Ino80 complex|microtubule	actin binding|alpha-tubulin binding|ATP binding|ATPase activity|DNA binding|DNA helicase activity	g.chr15:41319812_41319813insA	AB033085	CCDS10071.1	15q15.1	2013-08-21	2013-08-21	2008-08-07	ENSG00000128908	ENSG00000128908	3.6.1.3	"INO80 complex subunits"	26956	protein-coding gene	gene with protein product	"INO80 complex subunit A"	610169	"INO80 complex homolog 1 (S. cerevisiae)", "INO80 homolog (S. cerevisiae)"	INOC1		16298340, 16230350, 20237820	Standard	NM_017553		Approved	KIAA1259, Ino80, hINO80, INO80A	uc001zni.3	Q9ULG1	OTTHUMG00000130209	ENST00000361937.3:c.3030dupT	15.37:g.41319818_41319818dupA	ENSP00000355205:p.Leu1010fs					RP11-540O11.4_ENST00000560178.1_RNA|INO80_ENST00000401393.3_Frame_Shift_Ins_p.L1010fs	p.L1010fs			Q9ULG1	INO80_HUMAN			25	3453_3454	-			1010			Assembles INO80 complex module consisting of conserved components INO80B, INO80C, ACTR5, RVBL1, RVBL2.		A6H8X4|Q9NTG6	Frame_Shift_Ins	INS	ENST00000361937.3	37	c.3029_3030insT	CCDS10071.1																																																																																				0.47	INO80-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252527.2	NM_017553		11	70						11	70	---	---	---	---	A	41319813	-	A	41319812	7	5	181	1	0	1	1	0	0	0	0	0	7746	477	17	0	1688	0	INO80	15	41319812	Frame_Shift_Ins	INS	-	TCGA-G9-6499-01A-12D-1961-08		41319812	61211580	28	8498											
VPS13C	54832	broad.mit.edu	37	chr15	62204152	62204152	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aatggtacaaaagggagtcaGggtaactattcgtgaaaggt	15	9	13	4	1	1	1	1	1	0	0	2	2	1	2	0	4	2	2	0	4	7	4	rs192667052		TCGA-G9-6499-01A-12D-1961-08	TCGA-G9-6499-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fa7c553-f043-4ce7-9587-bb7ffc8d4b65	5fcb803a-2051-46ce-bd29-cc6ad5825bcd	g.chr15:62204152G>C	ENST00000261517.5	-	63	8675	c.8602C>G	c.(8602-8604)Ctg>Gtg	p.L2868V	VPS13C_ENST00000395898.3_Missense_Mutation_p.L2825V|VPS13C_ENST00000249837.3_Missense_Mutation_p.L2825V|VPS13C_ENST00000395896.4_Missense_Mutation_p.L2868V|RN7SL613P_ENST00000584412.1_RNA	NM_020821.2	NP_065872.1			vacuolar protein sorting 13 homolog C (S. cerevisiae)											NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						AAGGGAGTCAGGGTAACTATT	0.368																																						ENST00000261517.5																			0				NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						c.(8602-8604)Ctg>Gtg		vacuolar protein sorting 13 homolog C (S. cerevisiae)							121	115	117					15																	62204152		2203	4300	6503	SO:0001583	missense	54832				protein localization			g.chr15:62204152G>C	AJ608770	CCDS10180.1, CCDS32257.1, CCDS45272.1, CCDS58367.1	15q21.3	2009-07-09	2006-04-04		ENSG00000129003	ENSG00000129003			23594	protein-coding gene	gene with protein product		608879	"vacuolar protein sorting 13C (yeast)"				Standard	NM_018080		Approved	FLJ20136, FLJ10381, KIAA1421	uc002agz.3	Q709C8	OTTHUMG00000132801	ENST00000261517.5:c.8602C>G	15.37:g.62204152G>C	ENSP00000261517:p.Leu2868Val					VPS13C_ENST00000395896.4_Missense_Mutation_p.L2868V|VPS13C_ENST00000395898.3_Missense_Mutation_p.L2825V|VPS13C_ENST00000249837.3_Missense_Mutation_p.L2825V	p.L2868V	NM_020821.2	NP_065872.1	Q709C8	VP13C_HUMAN			63	8675	-			2868						Missense_Mutation	SNP	ENST00000261517.5	37	c.8602C>G	CCDS32257.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	16.68	3.189727	0.57909	.	.	ENSG00000129003	ENST00000249837;ENST00000261517;ENST00000395896;ENST00000395898	T;T;T	0.35605	1.3;1.3;1.3	5.71	3.74	0.42951	Vacuolar protein sorting-associated protein (1);	0.192926	0.45606	D	0.000349	T	0.36054	0.0953	L	0.59436	1.845	0.37134	D	0.901406	B;B;B;P;P	0.41524	0.185;0.393;0.321;0.753;0.571	B;B;B;B;B	0.42959	0.281;0.281;0.281;0.281;0.403	T	0.34004	-0.9846	10	0.46703	T	0.11	.	8.5526	0.33460	0.3299:0.0:0.6701:0.0	.	2868;2825;2868;2825;2868	F5GZG8;Q709C8-4;Q709C8-2;Q709C8-3;Q709C8	.;.;.;.;VP13C_HUMAN	V	2825;2868;2868;2868	ENSP00000249837:L2825V;ENSP00000261517:L2868V;ENSP00000379233:L2868V	ENSP00000249837:L2825V	L	-	1	2	VPS13C	59991444	1.000000	0.71417	0.998000	0.56505	0.961000	0.63080	2.368000	0.44222	0.672000	0.31204	0.491000	0.48974	CTG		0.368	VPS13C-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000415997.1	NM_017684		12	53	0	0	0	0.001855	0	12	53					C	62204152	G	C	62204152	3	2	181	1	0	0	0	0	1	0	0	0	17188	991	35	5	2779	5	VPS13C	15	62204152	Missense_Mutation	SNP	G	TCGA-G9-6499-01A-12D-1961-08	20884340	62204152	40327240	29	8499											
TRIP4	9325	broad.mit.edu	37	chr15	64737299	64737299	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtttcctattaaaggaaatcCaaaaatctgtaagtcatgat	16	13	6	6	0	2	1	1	1	1	0	4	2	4	2	2	1	0	2	2	1	7	4			TCGA-G9-6499-01A-12D-1961-08	TCGA-G9-6499-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fa7c553-f043-4ce7-9587-bb7ffc8d4b65	5fcb803a-2051-46ce-bd29-cc6ad5825bcd	g.chr15:64737299C>G	ENST00000261884.3	+	12	1730	c.1670C>G	c.(1669-1671)cCa>cGa	p.P557R	Y_RNA_ENST00000384054.1_RNA	NM_016213.4	NP_057297.2	Q15650	TRIP4_HUMAN	thyroid hormone receptor interactor 4	557					positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	ligand-dependent nuclear receptor binding (GO:0016922)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	21						AAAGGAAATCCAAAAATCTGT	0.348																																						ENST00000261884.3																			0				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	21						c.(1669-1671)cCa>cGa		thyroid hormone receptor interactor 4							50	49	49					15																	64737299		2202	4300	6502	SO:0001583	missense	9325				positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleus	ligand-dependent nuclear receptor binding|transcription coactivator activity|zinc ion binding	g.chr15:64737299C>G	L40371	CCDS10194.1	15q22.1	2014-02-17			ENSG00000103671	ENSG00000103671		"-"	12310	protein-coding gene	gene with protein product	"zinc finger, C2HC5-type"	604501				7776974	Standard	NM_016213		Approved	HsT17391, ZC2HC5	uc002anm.3	Q15650	OTTHUMG00000133033	ENST00000261884.3:c.1670C>G	15.37:g.64737299C>G	ENSP00000261884:p.Pro557Arg						p.P557R	NM_016213.4	NP_057297.2	Q15650	TRIP4_HUMAN			12	1730	+			557					B2RAS0|Q96ED7|Q9UKH0	Missense_Mutation	SNP	ENST00000261884.3	37	c.1670C>G	CCDS10194.1	.	.	.	.	.	.	.	.	.	.	C	11.32	1.605266	0.28623	.	.	ENSG00000103671	ENST00000261884	.	.	.	6.03	5.05	0.67936	PUA-like domain (1);	0.105290	0.64402	D	0.000004	T	0.29556	0.0737	N	0.08118	0	0.53005	D	0.999962	P	0.43938	0.822	P	0.44597	0.454	T	0.06180	-1.0841	9	0.09084	T	0.74	-11.0961	13.8598	0.63552	0.2588:0.7412:0.0:0.0	.	557	Q15650	TRIP4_HUMAN	R	557	.	ENSP00000261884:P557R	P	+	2	0	TRIP4	62524352	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.674000	0.37544	2.861000	0.98227	0.655000	0.94253	CCA		0.348	TRIP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256635.2	NM_016213		11	48	0	0	0	0.013537	0	11	48					G	64737299	C	G	64737299	3	3	181	1	0	0	0	0	1	0	0	0	16555	594	21	5	1716	5	TRIP4	15	64737299	Missense_Mutation	SNP	C	TCGA-G9-6499-01A-12D-1961-08	2533147	64737299	37794093	30	8500											
SMAD6	4091	broad.mit.edu	37	chr15	67073658	67073658	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cgcccggcggccgcgccctgGtcgtgcgcaaggtgcccccc	2	4	15	20	7	0	0	0	0	0	0	1	0	0	0	6	4	2	1	6	4	1	0	rs376580255		TCGA-G9-6499-01A-12D-1961-08	TCGA-G9-6499-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fa7c553-f043-4ce7-9587-bb7ffc8d4b65	5fcb803a-2051-46ce-bd29-cc6ad5825bcd	g.chr15:67073658G>T	ENST00000288840.5	+	4	2307	c.1276G>T	c.(1276-1278)Gtc>Ttc	p.V426F	SMAD6_ENST00000338426.4_Missense_Mutation_p.V165F	NM_005585.4	NP_005576.3	O43541	SMAD6_HUMAN	SMAD family member 6	426	MH2. {ECO:0000255|PROSITE- ProRule:PRU00439}.				BMP signaling pathway (GO:0030509)|cell-substrate adhesion (GO:0031589)|fat cell differentiation (GO:0045444)|immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|negative regulation of apoptotic process (GO:0043066)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of cell proliferation (GO:0008285)|negative regulation of pathway-restricted SMAD protein phosphorylation (GO:0060394)|negative regulation of SMAD protein complex assembly (GO:0010991)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|response to estrogen (GO:0043627)|response to laminar fluid shear stress (GO:0034616)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ureteric bud development (GO:0001657)|zygotic specification of dorsal/ventral axis (GO:0007352)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|protein complex (GO:0043234)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|co-SMAD binding (GO:0070410)|I-SMAD binding (GO:0070411)|metal ion binding (GO:0046872)|R-SMAD binding (GO:0070412)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|transforming growth factor beta receptor, inhibitory cytoplasmic mediator activity (GO:0030617)|type I activin receptor binding (GO:0070698)|type I transforming growth factor beta receptor binding (GO:0034713)|ubiquitin protein ligase binding (GO:0031625)			lung(1)|skin(1)	2						CCGCGCCCTGGTCGTGCGCAA	0.731																																					Esophageal Squamous(179;72 2004 22333 39628 47290)	ENST00000288840.5																			0				lung(1)|skin(1)	2						c.(1276-1278)Gtc>Ttc		SMAD family member 6							10	15	13					15																	67073658		2141	4153	6294	SO:0001583	missense	4091				BMP signaling pathway|immune response|negative regulation of apoptosis|negative regulation of BMP signaling pathway|negative regulation of caspase activity|negative regulation of pathway-restricted SMAD protein phosphorylation|negative regulation of SMAD protein complex assembly|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of S phase of mitotic cell cycle|response to laminar fluid shear stress|transforming growth factor beta receptor signaling pathway|zygotic specification of dorsal/ventral axis	cytosol|transcription factor complex	co-SMAD binding|I-SMAD binding|R-SMAD binding|sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, inhibitory cytoplasmic mediator activity|type I activin receptor binding|type I transforming growth factor beta receptor binding|ubiquitin protein ligase binding	g.chr15:67073658G>T	BC012986	CCDS10221.1	15q22.31	2014-09-11	2006-11-06	2004-05-26	ENSG00000137834	ENSG00000137834		"SMADs"	6772	protein-coding gene	gene with protein product		602931	"MAD, mothers against decapentaplegic homolog 6 (Drosophila)", "SMAD, mothers against DPP homolog 6 (Drosophila)"	MADH7, MADH6		9256479	Standard	NR_027654		Approved	HsT17432	uc002aqf.3	O43541	OTTHUMG00000133218	ENST00000288840.5:c.1276G>T	15.37:g.67073658G>T	ENSP00000288840:p.Val426Phe					SMAD6_ENST00000338426.4_Missense_Mutation_p.V165F	p.V426F	NM_005585.4	NP_005576.3	O43541	SMAD6_HUMAN			4	2307	+			426			MH2.		A9J6M5|O43654|Q15799|Q7Z7L4|Q96E31|Q9UKZ3	Missense_Mutation	SNP	ENST00000288840.5	37	c.1276G>T	CCDS10221.1	.	.	.	.	.	.	.	.	.	.	G	18.77	3.693744	0.68386	.	.	ENSG00000137834	ENST00000288840;ENST00000338426	D;D	0.98807	-4.98;-5.15	5.62	3.5	0.40072	SMAD domain-like (1);SMAD/FHA domain (1);SMAD domain, Dwarfin-type (3);	0.120276	0.56097	D	0.000022	D	0.97102	0.9053	L	0.54323	1.7	0.58432	D	0.999993	P;P	0.46952	0.887;0.459	P;B	0.45794	0.493;0.232	D	0.95965	0.8965	10	0.66056	D	0.02	.	7.8775	0.29603	0.1289:0.1752:0.6959:0.0	.	165;426	O43541-2;O43541	.;SMAD6_HUMAN	F	426;165	ENSP00000288840:V426F;ENSP00000345054:V165F	ENSP00000288840:V426F	V	+	1	0	SMAD6	64860712	1.000000	0.71417	0.946000	0.38457	0.994000	0.84299	3.335000	0.52105	1.367000	0.46095	0.491000	0.48974	GTC		0.731	SMAD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256953.2	NM_005585		9	42	1	0	2.52707e-12	0.006214	4.95694e-12	9	42					T	67073658	G	T	67073658	3	4	181	1	0	0	0	0	1	0	0	0	14762	1261	44	5	1328	5	SMAD6	15	67073658	Missense_Mutation	SNP	G	TCGA-G9-6499-01A-12D-1961-08	2336359	67073658	35457734	31	8501											
PCSK6	5046	broad.mit.edu	37	chr15	101983834	101983834	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttttaaaggttttgctgtgaTaaaaatggtagtaatcttcc	12	17	8	4	0	1	1	0	1	1	0	2	1	2	1	1	2	1	4	1	2	7	8			TCGA-G9-6499-01A-12D-1961-08	TCGA-G9-6499-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fa7c553-f043-4ce7-9587-bb7ffc8d4b65	5fcb803a-2051-46ce-bd29-cc6ad5825bcd	g.chr15:101983834T>C	ENST00000348070.1	-	3	325	c.326A>G	c.(325-327)tAt>tGt	p.Y109C	PCSK6_ENST00000358417.3_Missense_Mutation_p.Y109C|PCSK6_ENST00000561177.1_5'UTR|PCSK6_ENST00000398181.2_Missense_Mutation_p.Y109C|PCSK6_ENST00000344273.2_Missense_Mutation_p.Y109C	NM_002570.3|NM_138320.1	NP_002561.1|NP_612193.1	P29122	PCSK6_HUMAN	proprotein convertase subtilisin/kexin type 6	110					determination of left/right symmetry (GO:0007368)|glycoprotein metabolic process (GO:0009100)|nerve growth factor processing (GO:0032455)|nerve growth factor production (GO:0032902)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptide hormone processing (GO:0016486)|protein processing (GO:0016485)|regulation of BMP signaling pathway (GO:0030510)|secretion by cell (GO:0032940)|zygotic determination of anterior/posterior axis, embryo (GO:0007354)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|membrane (GO:0016020)	endopeptidase activity (GO:0004175)|heparin binding (GO:0008201)|nerve growth factor binding (GO:0048406)|serine-type endopeptidase activity (GO:0004252)			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Lung NSC(78;0.00102)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000803)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			TTTGCTGTGATAAAAATGGTA	0.443																																						ENST00000348070.1																			0				breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(325-327)tAt>tGt		proprotein convertase subtilisin/kexin type 6							147	151	150					15																	101983834		1890	4093	5983	SO:0001583	missense	5046				glycoprotein metabolic process|nerve growth factor processing|nerve growth factor production|nerve growth factor receptor signaling pathway|regulation of BMP signaling pathway|secretion by cell	cell surface|endomembrane system|endoplasmic reticulum|extracellular matrix|extracellular space|Golgi lumen|membrane|soluble fraction	eukaryotic cell surface binding|heparin binding|nerve growth factor binding|serine-type endopeptidase activity	g.chr15:101983834T>C		CCDS73789.1, CCDS73790.1, CCDS73791.1, CCDS73792.1, CCDS73793.1	15q26	2008-07-18	2004-06-14	2004-06-16		ENSG00000140479			8569	protein-coding gene	gene with protein product	"subtilisin-like protease", "subtilisin-like proprotein convertase 4", "subtilisin/kexin-like protease PACE4"	167405	"paired basic amino acid cleaving system 4"	PACE4		1741956	Standard	NM_002570		Approved	SPC4	uc002bwy.3	P29122		ENST00000348070.1:c.326A>G	15.37:g.101983834T>C	ENSP00000305056:p.Tyr109Cys					PCSK6_ENST00000358417.3_Missense_Mutation_p.Y109C|PCSK6_ENST00000561177.1_5'UTR|PCSK6_ENST00000398181.2_Missense_Mutation_p.Y109C|PCSK6_ENST00000344273.2_Missense_Mutation_p.Y109C	p.Y109C	NM_002570.3|NM_138320.1	NP_002561.1|NP_612193.1	P29122	PCSK6_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.000803)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)		3	325	-	Lung NSC(78;0.00102)|all_lung(78;0.00128)|Melanoma(26;0.00505)		110					Q15099|Q15100|Q9UEG7|Q9UEJ1|Q9UEJ2|Q9UEJ7|Q9UEJ8|Q9UEJ9|Q9Y4G9|Q9Y4H0|Q9Y4H1	Missense_Mutation	SNP	ENST00000348070.1	37	c.326A>G		.	.	.	.	.	.	.	.	.	.	T	18.01	3.526823	0.64860	.	.	ENSG00000140479	ENST00000348070;ENST00000358417;ENST00000398185;ENST00000344273;ENST00000398181	T;T;T;T	0.43294	0.95;0.95;0.95;0.95	5.92	5.92	0.95590	Proteinase inhibitor, propeptide (1);	0.193942	0.45361	D	0.000371	T	0.58552	0.2130	L	0.57536	1.79	0.42570	D	0.993171	D;D;D;D;D;D;D;D	0.76494	0.994;0.983;0.995;0.991;0.991;0.999;0.995;0.97	P;P;P;P;P;D;D;P	0.65874	0.707;0.662;0.818;0.662;0.662;0.939;0.917;0.765	T	0.57894	-0.7732	10	0.41790	T	0.15	-26.2029	14.3302	0.66550	0.0:0.0:0.0:1.0	.	110;109;110;109;109;110;110;109	P29122;E7EUC8;P29122-4;E7EWH5;E7EQ62;P29122-8;P29122-7;E7EM82	PCSK6_HUMAN;.;.;.;.;.;.;.	C	109;109;14;109;109	ENSP00000305056:Y109C;ENSP00000351193:Y109C;ENSP00000344410:Y109C;ENSP00000381243:Y109C	ENSP00000344410:Y109C	Y	-	2	0	PCSK6	99801357	1.000000	0.71417	0.997000	0.53966	0.994000	0.84299	1.953000	0.40352	2.277000	0.76020	0.528000	0.53228	TAT		0.443	PCSK6-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_002570		26	169	0	0	0	0.00333	0	26	169					C	101983834	T	C	101983834	3	2	181	1	0	0	0	0	1	0	0	0	11604	1406	49	4	3143	4	PCSK6	15	101983834	Missense_Mutation	SNP	T	TCGA-G9-6499-01A-12D-1961-08	34910176	101983834	547558	32	8502											
ZFHX3	463	broad.mit.edu	37	chr16	72831219	72831223	+	Frame_Shift_Del	DEL	GCAGG	GCAGG	-																															ctgctgctgctgtagttgcaGcagggtctcagttgtcatgg																										TCGA-G9-6499-01A-12D-1961-08	TCGA-G9-6499-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fa7c553-f043-4ce7-9587-bb7ffc8d4b65	5fcb803a-2051-46ce-bd29-cc6ad5825bcd	g.chr16:72831219_72831223delGCAGG	ENST00000268489.5	-	9	6030_6034	c.5358_5362delCCTGC	c.(5356-5364)accctgctgfs	p.LL1787fs	ZFHX3_ENST00000397992.5_Frame_Shift_Del_p.LL873fs	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	1787					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|muscle organ development (GO:0007517)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of myoblast differentiation (GO:0045663)|regulation of neuron differentiation (GO:0045664)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	enzyme binding (GO:0019899)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				TGTAGTTGCAGCAGGGTCTCAGTTG	0.58																																						ENST00000268489.5																			0				NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153						c.(5356-5364)actgfs		zinc finger homeobox 3																																				SO:0001589	frameshift_variant	463				muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr16:72831219_72831223delGCAGG	D10250	CCDS10908.1, CCDS54035.1	16q22.3	2012-03-09	2007-08-09	2007-08-09	ENSG00000140836	ENSG00000140836		"Zinc fingers, C2H2-type", "Homeoboxes / ZF class"	777	protein-coding gene	gene with protein product		104155	"AT-binding transcription factor 1"	ATBF1		1719379, 7592926	Standard	NM_006885		Approved	ZNF927	uc002fck.3	Q15911	OTTHUMG00000137599	ENST00000268489.5:c.5358_5362delCCTGC	16.37:g.72831219_72831223delGCAGG	ENSP00000268489:p.Leu1787fs					ZFHX3_ENST00000397992.5_Frame_Shift_Del_p.TLL872fs	p.TLL1786fs	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN			9	6030_6034	-		Ovarian(137;0.13)	1786					D3DWS8|O15101|Q13719	Frame_Shift_Del	DEL	ENST00000268489.5	37	c.5358_5362delCCTGC	CCDS10908.1																																																																																				0.58	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269008.1	NM_006885		7	146						7	146	---	---	---	---	-	72831223	GCAGG	-	72831219	7	5	181	1	0	1	0	1	0	0	0	0	17631	962	34	0	5757	0	ZFHX3	16	72831219	Frame_Shift_Del	DEL	GCAGG	TCGA-G9-6499-01A-12D-1961-08		72831219	17523534	33	8503											
IRF8	3394	broad.mit.edu	37	chr16	85936654	85936654	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatggtggtcggcggcttcgAcagtggctgatcgagcagat	8	9	16	8	4	0	2	0	1	0	1	3	4	0	2	0	5	1	3	0	5	1	1			TCGA-G9-6499-01A-12D-1961-08	TCGA-G9-6499-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fa7c553-f043-4ce7-9587-bb7ffc8d4b65	5fcb803a-2051-46ce-bd29-cc6ad5825bcd	g.chr16:85936654A>C	ENST00000268638.5	+	2	455	c.33A>C	c.(31-33)cgA>cgC	p.R11R	IRF8_ENST00000563180.1_Silent_p.R11R	NM_002163.2	NP_002154.1	Q02556	IRF8_HUMAN	interferon regulatory factor 8	11					cellular response to lipopolysaccharide (GO:0071222)|cytokine-mediated signaling pathway (GO:0019221)|defense response to bacterium (GO:0042742)|defense response to protozoan (GO:0042832)|immune response (GO:0006955)|interferon-gamma-mediated signaling pathway (GO:0060333)|myeloid cell differentiation (GO:0030099)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|phagocytosis (GO:0006909)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)|transcription from RNA polymerase II promoter (GO:0006366)|type I interferon signaling pathway (GO:0060337)	cytosol (GO:0005829)|nucleus (GO:0005634)	regulatory region DNA binding (GO:0000975)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	24		Prostate(104;0.0771)				GGCGGCTTCGACAGTGGCTGA	0.488																																						ENST00000268638.5																			0				breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	24						c.(31-33)cgA>cgC		interferon regulatory factor 8							167	167	167					16																	85936654		2198	4300	6498	SO:0001819	synonymous_variant	3394				interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	nucleus	DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity	g.chr16:85936654A>C	M91196	CCDS10956.1	16q24.1	2014-09-17	2004-11-12	2004-11-12	ENSG00000140968	ENSG00000140968			5358	protein-coding gene	gene with protein product		601565	"interferon consensus sequence binding protein 1"	ICSBP1		1460054, 11997525	Standard	NM_002163		Approved	IRF-8, ICSBP	uc002fjh.3	Q02556	OTTHUMG00000137648	ENST00000268638.5:c.33A>C	16.37:g.85936654A>C						IRF8_ENST00000563180.1_Silent_p.R11R	p.R11R	NM_002163.2	NP_002154.1	Q02556	IRF8_HUMAN			2	455	+		Prostate(104;0.0771)	11					A0AV82	Silent	SNP	ENST00000268638.5	37	c.33A>C	CCDS10956.1																																																																																				0.488	IRF8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269100.2	NM_002163		27	167	0	0	0	0.012213	0	27	167					C	85936654	A	C	85936654	2	2	181	1	0	0	0	0	0	0	0	1	7836	262	10	5		5	IRF8	16	85936654	Silent	SNP	A	TCGA-G9-6499-01A-12D-1961-08	13105435	85936654	4418099	34	8504											
TP53	7157	broad.mit.edu	37	chr17	7578404	7578404	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagcgctcatggtgggggcAgcgcctcacaacctccgtca	7	6	13	15	3	3	0	3	0	0	0	4	0	4	0	3	3	3	3	3	3	1	0			TCGA-G9-6499-01A-12D-1961-08	TCGA-G9-6499-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fa7c553-f043-4ce7-9587-bb7ffc8d4b65	5fcb803a-2051-46ce-bd29-cc6ad5825bcd	g.chr17:7578404A>G	ENST00000269305.4	-	5	715	c.526T>C	c.(526-528)Tgc>Cgc	p.C176R	TP53_ENST00000413465.2_Missense_Mutation_p.C176R|TP53_ENST00000420246.2_Missense_Mutation_p.C176R|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000445888.2_Missense_Mutation_p.C176R|TP53_ENST00000359597.4_Missense_Mutation_p.C176R|TP53_ENST00000455263.2_Missense_Mutation_p.C176R	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	176	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		C -> F (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:1868473, ECO:0000269|PubMed:8829627, ECO:0000269|PubMed:9450901}.|C -> G (in sporadic cancers; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in sporadic cancers; somatic mutation).|CP -> FS (in a sporadic cancer; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.C176S(10)|p.C176R(8)|p.0?(8)|p.C176fs*71(7)|p.C176G(6)|p.C176_R181delCPHHER(3)|p.R174fs*24(3)|p.C176fs*5(3)|p.R175_E180delRCPHHE(3)|p.V173fs*59(2)|p.R174fs*1(2)|p.V157_C176del20(1)|p.C176fs*65(1)|p.C176_P177delCP(1)|p.V173fs*69(1)|p.C176fs*68(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.R175_H178>X(1)|p.C44G(1)|p.R42fs*24(1)|p.C176fs*72(1)|p.R174_C176delRRC(1)|p.H168fs*69(1)|p.R174fs*70(1)|p.C176del(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.C83G(1)|p.C176fs*6(1)|p.R174fs*3(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	TGGTGGGGGCAGCGCCTCACA	0.647		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"Mis, N, F"	tumor protein p53			"L, E, M, O"		"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"	"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"		80	Substitution - Missense(26)|Deletion - Frameshift(25)|Deletion - In frame(13)|Whole gene deletion(8)|Insertion - Frameshift(5)|Complex - deletion inframe(3)	p.C176S(10)|p.C176R(8)|p.0?(8)|p.C176fs*71(7)|p.C176G(6)|p.C176_R181delCPHHER(3)|p.R174fs*24(3)|p.C176fs*5(3)|p.R175_E180delRCPHHE(3)|p.V173fs*59(2)|p.R174fs*1(2)|p.V157_C176del20(1)|p.C176fs*65(1)|p.C176_P177delCP(1)|p.V173fs*69(1)|p.C176fs*68(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.R175_H178>X(1)|p.C44G(1)|p.R42fs*24(1)|p.C176fs*72(1)|p.R174_C176delRRC(1)|p.H168fs*69(1)|p.R174fs*70(1)|p.C176del(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.C83G(1)|p.C176fs*6(1)|p.R174fs*3(1)	breast(18)|haematopoietic_and_lymphoid_tissue(13)|oesophagus(10)|upper_aerodigestive_tract(8)|large_intestine(8)|stomach(4)|lung(4)|liver(4)|bone(4)|central_nervous_system(3)|ovary(2)|biliary_tract(1)|prostate(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185						c.(526-528)Tgc>Cgc	Other conserved DNA damage response genes	tumor protein p53							49	49	49					17																	7578404		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578404A>G	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"Li-Fraumeni syndrome"	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.526T>C	17.37:g.7578404A>G	ENSP00000269305:p.Cys176Arg	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_ENST00000445888.2_Missense_Mutation_p.C176R|TP53_ENST00000455263.2_Missense_Mutation_p.C176R|TP53_ENST00000359597.4_Missense_Mutation_p.C176R|TP53_ENST00000269305.4_Missense_Mutation_p.C176R|TP53_ENST00000413465.2_Missense_Mutation_p.C176R|TP53_ENST00000574684.1_5'UTR	p.C176R	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	5	658	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	176		C -> F (in sporadic cancers; somatic mutation).|C -> G (in sporadic cancers; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in sporadic cancers; somatic mutation).|CP -> FS (in a sporadic cancer; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.526T>C	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	A	25.6	4.656019	0.88056	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99982	-10.62;-10.62;-10.62;-10.62;-10.62;-10.62;-10.62;-10.62	5.59	5.59	0.84812	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.092184	0.85682	D	0.000000	D	0.99981	0.9994	M	0.92923	3.36	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;0.999;1.0;1.0;1.0;0.999;1.0	D;D;D;D;D;D;D	0.97110	0.999;0.992;0.994;1.0;0.996;0.994;0.999	D	0.96412	0.9305	10	0.87932	D	0	-18.1821	14.037	0.64651	1.0:0.0:0.0:0.0	.	137;176;176;83;176;176;176	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	R	176;176;176;176;176;176;165;83;44;83;44	ENSP00000410739:C176R;ENSP00000352610:C176R;ENSP00000269305:C176R;ENSP00000398846:C176R;ENSP00000391127:C176R;ENSP00000391478:C176R;ENSP00000425104:C44R;ENSP00000423862:C83R	ENSP00000269305:C176R	C	-	1	0	TP53	7519129	1.000000	0.71417	1.000000	0.80357	0.841000	0.47740	9.287000	0.95975	2.263000	0.75096	0.533000	0.62120	TGC		0.647	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		22	56	0	0	0	0.010504	0	22	56					G	7578404	A	G	7578404	3	3	181	1	0	0	0	0	1	0	0	0	16378	188	7	4	772	4	TP53	17	7578404	Missense_Mutation	SNP	A	TCGA-G9-6499-01A-12D-1961-08		7578404	73616806	35	8505											
TNS4	84951	broad.mit.edu	37	chr17	38638448	38638448	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaatgctggcacacgaaggcAgagaggctccctgaaaggaa	14	4	14	9	1	0	2	0	1	0	1	1	6	1	3	1	4	1	4	1	4	4	0			TCGA-G9-6499-01A-12D-1961-08	TCGA-G9-6499-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fa7c553-f043-4ce7-9587-bb7ffc8d4b65	5fcb803a-2051-46ce-bd29-cc6ad5825bcd	g.chr17:38638448A>T	ENST00000254051.6	-	8	1763	c.1605T>A	c.(1603-1605)tcT>tcA	p.S535S		NM_032865.5	NP_116254.4	Q8IZW8	TENS4_HUMAN	tensin 4	535	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				apoptotic process (GO:0006915)|protein localization (GO:0008104)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	30		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(5;5.91e-05)			ACACGAAGGCAGAGAGGCTCC	0.622																																						ENST00000254051.6																			0				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	30						c.(1603-1605)tcT>tcA		tensin 4							57	53	54					17																	38638448		2203	4300	6503	SO:0001819	synonymous_variant	84951				apoptosis|protein localization	cytoplasm|cytoskeleton|focal adhesion	actin binding	g.chr17:38638448A>T	AF417488	CCDS11368.1	17q21.2	2013-02-14			ENSG00000131746	ENSG00000131746		"SH2 domain containing"	24352	protein-coding gene	gene with protein product	"C terminal tensin like"	608385				12154022, 12711115	Standard	NM_032865		Approved	CTEN	uc010cxb.3	Q8IZW8	OTTHUMG00000133330	ENST00000254051.6:c.1605T>A	17.37:g.38638448A>T							p.S535S	NM_032865.5	NP_116254.4	Q8IZW8	TENS4_HUMAN	STAD - Stomach adenocarcinoma(5;5.91e-05)		8	1763	-		Breast(137;0.000496)	535			SH2.		A6NMJ7|Q71RB7|Q8WV64|Q96JV4	Silent	SNP	ENST00000254051.6	37	c.1605T>A	CCDS11368.1																																																																																				0.622	TNS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257154.3	NM_032865		4	47	0	0	0	0.000602	0	4	47					T	38638448	A	T	38638448	2	4	181	1	0	0	0	0	0	0	0	1	16342	175	7	5		5	TNS4	17	38638448	Silent	SNP	A	TCGA-G9-6499-01A-12D-1961-08	31060044	38638448	42556762	36	8506											
SC65	10609	broad.mit.edu	37	chr17	39968157	39968157	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accacagcagcccccacgccAcccgagccatgcccgccgcg	8	1	9	23	5	0	0	0	0	0	0	0	1	0	0	8	0	4	1	8	0	0	0			TCGA-G9-6499-01A-12D-1961-08	TCGA-G9-6499-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fa7c553-f043-4ce7-9587-bb7ffc8d4b65	5fcb803a-2051-46ce-bd29-cc6ad5825bcd	g.chr17:39968157A>C	ENST00000355468.3	-	2	477	c.11T>G	c.(10-12)gTg>gGg	p.V4G	FKBP10_ENST00000321562.4_5'Flank|LEPREL4_ENST00000393928.1_Missense_Mutation_p.V4G			Q92791	SC65_HUMAN	leprecan-like 4	4					synaptonemal complex assembly (GO:0007130)	condensed nuclear chromosome (GO:0000794)|nucleolus (GO:0005730)|synaptonemal complex (GO:0000795)				endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|urinary_tract(1)	8						CCCCCACGCCACCCGAGCCAT	0.781																																						ENST00000355468.3																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|urinary_tract(1)	8						c.(10-12)gTg>gGg		leprecan-like 4							2	3	2					17																	39968157		1184	2580	3764	SO:0001583	missense	10609				synaptonemal complex assembly	nucleolus|synaptonemal complex	binding	g.chr17:39968157A>C	BC001047	CCDS11408.1	17q12	2013-05-03	2002-08-29		ENSG00000141696	ENSG00000141696			16946	protein-coding gene	gene with protein product			"nucleolar autoantigen (55kD)", "rat synaptonemal complex protein"			8862517	Standard	NM_006455		Approved	SC65, NO55	uc002hxt.3	Q92791	OTTHUMG00000133501	ENST00000355468.3:c.11T>G	17.37:g.39968157A>C	ENSP00000347649:p.Val4Gly					LEPREL4_ENST00000393928.1_Missense_Mutation_p.V4G	p.V4G			Q92791	SC65_HUMAN			2	477	-			4					Q53GI6|Q9H4F6	Missense_Mutation	SNP	ENST00000355468.3	37	c.11T>G	CCDS11408.1	.	.	.	.	.	.	.	.	.	.	A	7.156	0.584807	0.13749	.	.	ENSG00000141696	ENST00000355468;ENST00000393928;ENST00000545545	T;T	0.38077	1.16;1.16	4.11	-7.95	0.01148	.	2.032300	0.02768	N	0.119344	T	0.12390	0.0301	N	0.03608	-0.345	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.10520	-1.0626	10	0.30078	T	0.28	-0.0018	1.7325	0.02934	0.1459:0.2122:0.3298:0.3121	.	4;4	B4DVZ5;Q92791	.;SC65_HUMAN	G	4	ENSP00000347649:V4G;ENSP00000377505:V4G	ENSP00000347649:V4G	V	-	2	0	LEPREL4	37221683	0.000000	0.05858	0.057000	0.19452	0.485000	0.33311	-0.645000	0.05409	-1.045000	0.03250	-0.781000	0.03364	GTG		0.781	LEPREL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257439.2			4	2	0	0	0	0.000602	0	4	2					C	39968157	A	C	39968157	3	2	181	1	0	0	0	0	1	0	0	0	13867	159	6	5	1334	5	SC65	17	39968157	Missense_Mutation	SNP	A	TCGA-G9-6499-01A-12D-1961-08	1329709	39968157	41227053	37	8507											
ITGB4	3691	broad.mit.edu	37	chr17	73725380	73725380	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggcccaacagtgacccccccTtctccttcaagaacgtcatc	9	8	6	18	1	3	2	2	1	1	1	5	2	3	2	5	1	2	0	5	1	3	2			TCGA-G9-6499-01A-12D-1961-08	TCGA-G9-6499-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fa7c553-f043-4ce7-9587-bb7ffc8d4b65	5fcb803a-2051-46ce-bd29-cc6ad5825bcd	g.chr17:73725380T>G	ENST00000200181.3	+	7	788	c.601T>G	c.(601-603)Ttc>Gtc	p.F201V	ITGB4_ENST00000449880.2_Missense_Mutation_p.F201V|ITGB4_ENST00000450894.3_Missense_Mutation_p.F201V|ITGB4_ENST00000584558.1_3'UTR|ITGB4_ENST00000579662.1_Missense_Mutation_p.F201V|ITGB4_ENST00000339591.3_Missense_Mutation_p.F201V	NM_000213.3	NP_000204.3	P16144	ITB4_HUMAN	integrin, beta 4	201	VWFA.				amelogenesis (GO:0097186)|autophagy (GO:0006914)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell motility (GO:0048870)|cell-matrix adhesion (GO:0007160)|digestive tract development (GO:0048565)|extracellular matrix organization (GO:0030198)|filopodium assembly (GO:0046847)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|mesodermal cell differentiation (GO:0048333)|nail development (GO:0035878)|renal system development (GO:0072001)|response to wounding (GO:0009611)|skin development (GO:0043588)	basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|hemidesmosome (GO:0030056)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	G-protein coupled receptor binding (GO:0001664)|receptor activity (GO:0004872)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1)	43	all_cancers(13;1.5e-07)		all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			TGACCCCCCCTTCTCCTTCAA	0.607																																						ENST00000200181.3																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1)	43						c.(601-603)Ttc>Gtc		integrin, beta 4							94	84	87					17																	73725380		2203	4300	6503	SO:0001583	missense	3691				cell communication|cell motility|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development|response to wounding	cell leading edge|cell surface|hemidesmosome|integrin complex	protein binding|receptor activity	g.chr17:73725380T>G		CCDS11727.1, CCDS32736.1, CCDS58599.1	17q25.1	2013-09-19			ENSG00000132470	ENSG00000132470		"CD molecules", "Integrins", "Fibronectin type III domain containing"	6158	protein-coding gene	gene with protein product		147557				2070796	Standard	XM_005257309		Approved	CD104	uc002jpg.3	P16144	OTTHUMG00000179814	ENST00000200181.3:c.601T>G	17.37:g.73725380T>G	ENSP00000200181:p.Phe201Val					ITGB4_ENST00000579662.1_Missense_Mutation_p.F201V|ITGB4_ENST00000450894.3_Missense_Mutation_p.F201V|ITGB4_ENST00000449880.2_Missense_Mutation_p.F201V|ITGB4_ENST00000584558.1_3'UTR|ITGB4_ENST00000339591.3_Missense_Mutation_p.F201V	p.F201V	NM_000213.3	NP_000204.3	P16144	ITB4_HUMAN	all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)		7	788	+	all_cancers(13;1.5e-07)		201			VWFA.		A0AVL6|O14690|O14691|O15339|O15340|O15341|Q0VF97|Q9UIQ4	Missense_Mutation	SNP	ENST00000200181.3	37	c.601T>G	CCDS11727.1	.	.	.	.	.	.	.	.	.	.	T	16.14	3.038506	0.55003	.	.	ENSG00000132470	ENST00000450894;ENST00000200181;ENST00000339591;ENST00000449880	D;D;D	0.95103	-3.61;-3.61;-3.61	5.58	5.58	0.84498	Integrin beta subunit, N-terminal (2);von Willebrand factor, type A (1);	0.000000	0.85682	D	0.000000	D	0.97879	0.9303	H	0.94620	3.56	0.80722	D	1	D;D;D;D	0.67145	0.958;0.995;0.996;0.996	P;P;D;D	0.66196	0.73;0.904;0.942;0.942	D	0.99047	1.0826	10	0.87932	D	0	.	15.7406	0.77891	0.0:0.0:0.0:1.0	.	201;201;201;201	P16144-5;P16144-3;A0AVL6;P16144	.;.;.;ITB4_HUMAN	V	117;201;201;201	ENSP00000200181:F201V;ENSP00000344079:F201V;ENSP00000400217:F201V	ENSP00000200181:F201V	F	+	1	0	ITGB4	71236975	1.000000	0.71417	0.934000	0.37439	0.993000	0.82548	7.979000	0.88103	2.121000	0.65114	0.533000	0.62120	TTC		0.607	ITGB4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000448334.1			11	71	0	0	0	0.001855	0	11	71					G	73725380	T	G	73725380	3	3	181	1	0	0	0	0	1	0	0	0	7897	1609	56	5	623	5	ITGB4	17	73725380	Missense_Mutation	SNP	T	TCGA-G9-6499-01A-12D-1961-08	33757223	73725380	7469830	38	8508											
CEP76	79959	broad.mit.edu	37	chr18	12678245	12678245	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aggagcacacacagatttaaTtgcttcctcactcatgggtt	11	12	8	10	0	2	1	2	0	0	1	3	2	3	2	1	2	2	3	1	2	1	5			TCGA-G9-6499-01A-12D-1961-08	TCGA-G9-6499-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fa7c553-f043-4ce7-9587-bb7ffc8d4b65	5fcb803a-2051-46ce-bd29-cc6ad5825bcd	g.chr18:12678245T>C	ENST00000262127.2	-	10	1711	c.1486A>G	c.(1486-1488)Att>Gtt	p.I496V	CEP76_ENST00000423709.2_Missense_Mutation_p.I421V|PSMG2_ENST00000589405.1_Intron|PSMG2_ENST00000585331.2_Intron	NM_024899.2	NP_079175.2	Q8TAP6	CEP76_HUMAN	centrosomal protein 76kDa	496					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of centriole replication (GO:0046599)	centriole (GO:0005814)|centrosome (GO:0005813)|cytosol (GO:0005829)|protein complex (GO:0043234)				endometrium(1)|kidney(3)|large_intestine(5)|lung(7)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						ACAGATTTAATTGCTTCCTCA	0.433																																						ENST00000262127.2																			0				endometrium(1)|kidney(3)|large_intestine(5)|lung(7)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(1486-1488)Att>Gtt		centrosomal protein 76kDa							259	241	247					18																	12678245		2203	4300	6503	SO:0001583	missense	79959				G2/M transition of mitotic cell cycle|regulation of centriole replication	centriole|cytosol	protein binding	g.chr18:12678245T>C	BC026307	CCDS11861.1, CCDS62390.1	18p11.21	2014-02-20	2005-12-01	2005-12-01	ENSG00000101624	ENSG00000101624			25727	protein-coding gene	gene with protein product			"chromosome 18 open reading frame 9"	C18orf9		14654843	Standard	NM_024899		Approved	HsT1705, FLJ12542	uc002kri.4	Q8TAP6	OTTHUMG00000131701	ENST00000262127.2:c.1486A>G	18.37:g.12678245T>C	ENSP00000262127:p.Ile496Val					CEP76_ENST00000423709.2_Missense_Mutation_p.I421V|RP11-973H7.2_ENST00000585331.1_RNA	p.I496V	NM_024899.2	NP_079175.2	Q8TAP6	CEP76_HUMAN			10	1711	-			496					B0YJB2|B4DXG5|B4DZW1|Q658N5|Q9H9U7	Missense_Mutation	SNP	ENST00000262127.2	37	c.1486A>G	CCDS11861.1	.	.	.	.	.	.	.	.	.	.	T	12.51	1.958231	0.34565	.	.	ENSG00000101624	ENST00000262127;ENST00000423709	D;D	0.91011	-2.77;-2.77	5.65	4.49	0.54785	.	0.166001	0.53938	N	0.000054	D	0.84238	0.5428	L	0.35414	1.06	0.42701	D	0.993614	B;B	0.20887	0.049;0.018	B;B	0.20184	0.028;0.016	T	0.77360	-0.2617	10	0.22706	T	0.39	-13.7675	11.5277	0.50591	0.0:0.0701:0.0:0.9299	.	421;496	Q8TAP6-2;Q8TAP6	.;CEP76_HUMAN	V	496;421	ENSP00000262127:I496V;ENSP00000403074:I421V	ENSP00000262127:I496V	I	-	1	0	CEP76	12668245	1.000000	0.71417	0.991000	0.47740	0.963000	0.63663	3.408000	0.52651	0.974000	0.38366	0.482000	0.46254	ATT		0.433	CEP76-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254611.1	NM_024899		40	122	0	0	0	0.00874	0	40	122					C	12678245	T	C	12678245	3	2	181	1	0	0	0	0	1	0	0	0	3261	1493	52	4	505	4	CEP76	18	12678245	Missense_Mutation	SNP	T	TCGA-G9-6499-01A-12D-1961-08		12678245	65399003	39	8509											
NWD1	284434	broad.mit.edu	37	chr19	16902377	16902377	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaacacctacctgtgccgtcTcagtccagaagcaaggaaag	14	6	9	12	1	1	1	1	0	1	1	3	2	2	2	4	1	4	1	4	1	5	1			TCGA-G9-6499-01A-12D-1961-08	TCGA-G9-6499-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fa7c553-f043-4ce7-9587-bb7ffc8d4b65	5fcb803a-2051-46ce-bd29-cc6ad5825bcd	g.chr19:16902377T>G	ENST00000552788.1	+	12	3157	c.3157T>G	c.(3157-3159)Tca>Gca	p.S1053A	NWD1_ENST00000549814.1_Missense_Mutation_p.S1053A|NWD1_ENST00000523826.1_Missense_Mutation_p.S847A|NWD1_ENST00000339803.6_Missense_Mutation_p.S918A|NWD1_ENST00000379808.3_Missense_Mutation_p.S1053A|NWD1_ENST00000524140.2_Missense_Mutation_p.S1053A			Q149M9	NWD1_HUMAN	NACHT and WD repeat domain containing 1	1053							ATP binding (GO:0005524)			NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						CTGTGCCGTCTCAGTCCAGAA	0.478																																						ENST00000524140.2																			0				NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						c.(3157-3159)Tca>Gca		NACHT and WD repeat domain containing 1							127	102	110					19																	16902377		2203	4300	6503	SO:0001583	missense	284434						ATP binding	g.chr19:16902377T>G	BX648940	CCDS32945.1, CCDS32945.2	19p13.11	2013-01-09				ENSG00000188039		"WD repeat domain containing"	27619	protein-coding gene	gene with protein product							Standard	NM_001007525		Approved		uc002neu.4	Q149M9		ENST00000552788.1:c.3157T>G	19.37:g.16902377T>G	ENSP00000447224:p.Ser1053Ala					NWD1_ENST00000552788.1_Missense_Mutation_p.S1053A|NWD1_ENST00000549814.1_Missense_Mutation_p.S1053A|NWD1_ENST00000523826.1_Missense_Mutation_p.S847A|NWD1_ENST00000379808.3_Missense_Mutation_p.S1053A|NWD1_ENST00000339803.6_Missense_Mutation_p.S918A	p.S1053A	NM_001007525.3	NP_001007526.3	Q149M9	NWD1_HUMAN			14	3575	+			1053					C9J021|Q68CT3	Missense_Mutation	SNP	ENST00000552788.1	37	c.3157T>G		.	.	.	.	.	.	.	.	.	.	T	10.29	1.310173	0.23821	.	.	ENSG00000188039	ENST00000420818;ENST00000524140;ENST00000549814;ENST00000379808;ENST00000523826;ENST00000552788;ENST00000339803	T;T;T;T;T;T	0.70045	1.62;-0.45;1.62;3.61;3.61;3.61	5.34	-2.06	0.07298	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.935674	0.09035	N	0.858091	T	0.41442	0.1159	L	0.29908	0.895	0.09310	N	1	B;B;B	0.19817	0.023;0.026;0.039	B;B;B	0.19391	0.007;0.025;0.016	T	0.33137	-0.9880	10	0.02654	T	1	0.0603	1.2489	0.01978	0.1304:0.2513:0.2938:0.3245	.	1053;1053;918	Q149M9;Q149M9-3;C9J2Y8	NWD1_HUMAN;.;.	A	918;1053;1053;1053;847;1053;918	ENSP00000428579:S1053A;ENSP00000447548:S1053A;ENSP00000369136:S1053A;ENSP00000428955:S847A;ENSP00000447224:S1053A;ENSP00000340159:S918A	ENSP00000340159:S918A	S	+	1	0	NWD1	16763377	0.000000	0.05858	0.000000	0.03702	0.023000	0.10783	-0.175000	0.09825	-0.855000	0.04125	-0.316000	0.08728	TCA		0.478	NWD1-005	NOVEL	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000403569.1	NM_001007525		13	141	0	0	0	0.00245	0	13	141					G	16902377	T	G	16902377	3	3	181	1	0	0	0	0	1	0	0	0	10781	1551	54	5	2790	5	NWD1	19	16902377	Missense_Mutation	SNP	T	TCGA-G9-6499-01A-12D-1961-08		16902377	42226606	40	8510											
ZNF571	51276	broad.mit.edu	37	chr19	38056280	38056280	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgaattctctgatgttcattCagttgggaggcacataaaaa	13	13	9	6	0	3	2	2	2	1	0	4	3	3	3	0	2	0	3	0	2	4	5			TCGA-G9-6499-01A-12D-1961-08	TCGA-G9-6499-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fa7c553-f043-4ce7-9587-bb7ffc8d4b65	5fcb803a-2051-46ce-bd29-cc6ad5825bcd	g.chr19:38056280C>T	ENST00000328550.2	-	4	1149	c.1050G>A	c.(1048-1050)ctG>ctA	p.L350L	ZNF571_ENST00000590751.1_Intron|ZNF571-AS1_ENST00000586139.1_RNA|ZNF571-AS1_ENST00000585578.1_RNA|ZNF571-AS1_ENST00000589802.1_RNA|ZNF571-AS1_ENST00000586013.1_RNA|ZNF540_ENST00000592533.1_Intron|ZNF571_ENST00000358744.3_Silent_p.L350L|ZNF571-AS1_ENST00000590838.1_RNA|ZNF571-AS1_ENST00000592392.1_RNA|ZNF571-AS1_ENST00000587121.1_RNA|ZNF571_ENST00000593133.1_Silent_p.L350L|ZNF571_ENST00000451802.2_Silent_p.L350L|ZNF571-AS1_ENST00000589750.1_RNA|ZNF571-AS1_ENST00000591430.1_RNA			Q7Z3V5	ZN571_HUMAN	zinc finger protein 571	350					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(3)|large_intestine(6)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	25			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			GATGTTCATTCAGTTGGGAGG	0.408																																						ENST00000328550.2																			0				breast(1)|endometrium(3)|large_intestine(6)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	25						c.(1048-1050)ctG>ctA		zinc finger protein 571							49	47	48					19																	38056280		2203	4300	6503	SO:0001819	synonymous_variant	51276				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:38056280C>T	AF161544	CCDS12505.1	19q13.12	2013-09-20			ENSG00000180479	ENSG00000180479		"Zinc fingers, C2H2-type", "-"	25000	protein-coding gene	gene with protein product						11042152	Standard	XM_005258977		Approved	HSPC059	uc002ogt.3	Q7Z3V5	OTTHUMG00000182016	ENST00000328550.2:c.1050G>A	19.37:g.38056280C>T						ZNF571_ENST00000590751.1_Intron|ZNF571_ENST00000451802.2_Silent_p.L350L|ZNF571-AS1_ENST00000590838.1_RNA|ZNF571_ENST00000358744.3_Silent_p.L350L|ZNF571-AS1_ENST00000586139.1_RNA|ZNF571_ENST00000593133.1_Silent_p.L350L|ZNF540_ENST00000592533.1_Intron|ZNF571-AS1_ENST00000592392.1_RNA|ZNF571-AS1_ENST00000585578.1_RNA|ZNF571-AS1_ENST00000589750.1_RNA|ZNF571-AS1_ENST00000589802.1_RNA|ZNF571-AS1_ENST00000591430.1_RNA|ZNF571-AS1_ENST00000587121.1_RNA|ZNF571-AS1_ENST00000586013.1_RNA	p.L350L			Q7Z3V5	ZN571_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		4	1149	-			350					Q2HIY0|Q3ZCU3|Q9NZX7	Silent	SNP	ENST00000328550.2	37	c.1050G>A	CCDS12505.1																																																																																				0.408	ZNF571-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458669.1	NM_016536		10	45	0	0	0	0.006214	0	10	45					T	38056280	C	T	38056280	2	4	181	1	0	0	0	0	0	0	0	1	18000	813	29	3		3	ZNF571	19	38056280	Silent	SNP	C	TCGA-G9-6499-01A-12D-1961-08	21153903	38056280	21072703	41	8511											
LILRA1	11024	broad.mit.edu	37	chr19	55106382	55106382	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tagccacactgcaggctggtCagagcccagtgaccccctgg	8	6	12	15	0	1	2	1	1	0	1	1	2	1	2	4	3	3	2	4	3	1	1			TCGA-G9-6499-01A-12D-1961-08	TCGA-G9-6499-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fa7c553-f043-4ce7-9587-bb7ffc8d4b65	5fcb803a-2051-46ce-bd29-cc6ad5825bcd	g.chr19:55106382C>T	ENST00000251372.3	+	4	505	c.323C>T	c.(322-324)tCa>tTa	p.S108L	LILRA1_ENST00000453777.1_Missense_Mutation_p.S108L|LILRB1_ENST00000396321.2_Intron|LILRA1_ENST00000473156.1_3'UTR|LILRB1_ENST00000448689.1_Intron|LILRB1_ENST00000418536.2_Intron	NM_006863.2	NP_006854.1	O75019	LIRA1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1	108	Ig-like C2-type 1.				cell surface receptor signaling pathway (GO:0007166)|defense response (GO:0006952)|immune system process (GO:0002376)|regulation of immune response (GO:0050776)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	47				GBM - Glioblastoma multiforme(193;0.0348)		GCAGGCTGGTCAGAGCCCAGT	0.612																																						ENST00000453777.1																			0				breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	47						c.(322-324)tCa>tTa		leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1							75	74	74					19																	55106382		2203	4300	6503	SO:0001583	missense	11024				cell surface receptor linked signaling pathway|defense response|regulation of immune response	integral to membrane|plasma membrane	antigen binding|transmembrane receptor activity	g.chr19:55106382C>T	AF025530	CCDS12901.1, CCDS62802.1	19q13.4	2013-01-11			ENSG00000104974	ENSG00000104974		"Leukocyte immunoglobulin-like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6602	protein-coding gene	gene with protein product		604810				9548455	Standard	NM_006863		Approved	LIR-6, CD85i, LIR6	uc002qgh.2	O75019	OTTHUMG00000065701	ENST00000251372.3:c.323C>T	19.37:g.55106382C>T	ENSP00000251372:p.Ser108Leu					LILRB1_ENST00000448689.1_Intron|LILRA1_ENST00000251372.3_Missense_Mutation_p.S108L|LILRB1_ENST00000396321.2_Intron|LILRB1_ENST00000418536.2_Intron|LILRA1_ENST00000473156.1_3'UTR	p.S108L	NM_001278318.1	NP_001265247.1	O75019	LIRA1_HUMAN		GBM - Glioblastoma multiforme(193;0.0348)	4	493	+			108			Ig-like C2-type 1.		O75018|Q3MJA6	Missense_Mutation	SNP	ENST00000251372.3	37	c.323C>T	CCDS12901.1	.	.	.	.	.	.	.	.	.	.	C	12.88	2.069462	0.36470	.	.	ENSG00000104974	ENST00000251372;ENST00000453777	T;T	0.01145	5.27;5.27	1.58	0.493	0.16878	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	0.412660	0.17854	N	0.159743	T	0.10594	0.0259	H	0.99325	4.515	0.09310	N	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.13308	-1.0514	10	0.87932	D	0	.	3.9146	0.09217	0.0:0.7618:0.0:0.2382	.	108;108	O75019-2;O75019	.;LIRA1_HUMAN	L	108	ENSP00000251372:S108L;ENSP00000413715:S108L	ENSP00000251372:S108L	S	+	2	0	LILRA1	59798194	0.262000	0.24073	0.005000	0.12908	0.007000	0.05969	0.914000	0.28624	0.226000	0.20979	0.194000	0.17425	TCA		0.612	LILRA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000140807.2	NM_006863		28	72	0	0	0	0.00632	0	28	72					T	55106382	C	T	55106382	3	4	181	1	0	0	0	0	1	0	0	0	8784	838	29	3	333	3	LILRA1	19	55106382	Missense_Mutation	SNP	C	TCGA-G9-6499-01A-12D-1961-08	17050102	55106382	4022601	42	8512											
NCAM2	4685	broad.mit.edu	37	chr21	22782676	22782676	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ataagttgtgatgtgaaatcGaatccaccagcatcaattca	15	11	7	8	1	2	2	2	2	0	0	4	3	3	2	2	0	1	2	2	0	4	3			TCGA-G9-6499-01A-12D-1961-08	TCGA-G9-6499-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fa7c553-f043-4ce7-9587-bb7ffc8d4b65	5fcb803a-2051-46ce-bd29-cc6ad5825bcd	g.chr21:22782676G>A	ENST00000400546.1	+	10	1527	c.1278G>A	c.(1276-1278)tcG>tcA	p.S426S	NCAM2_ENST00000284894.7_Silent_p.S284S	NM_004540.3	NP_004531.2	O15394	NCAM2_HUMAN	neural cell adhesion molecule 2	426	Ig-like C2-type 5.				axonal fasciculation (GO:0007413)|neuron cell-cell adhesion (GO:0007158)|sensory perception of smell (GO:0007608)	axon (GO:0030424)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(4)|cervix(2)|endometrium(8)|kidney(6)|large_intestine(22)|liver(4)|lung(49)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	108		Lung NSC(9;0.195)		all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174)		ATGTGAAATCGAATCCACCAG	0.323																																						ENST00000400546.1																			0				breast(4)|cervix(2)|endometrium(8)|kidney(6)|large_intestine(22)|liver(4)|lung(49)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	108						c.(1276-1278)tcG>tcA		neural cell adhesion molecule 2							72	68	69					21																	22782676		1825	4082	5907	SO:0001819	synonymous_variant	4685				neuron cell-cell adhesion	integral to membrane|plasma membrane		g.chr21:22782676G>A		CCDS42910.1	21q21	2013-02-11			ENSG00000154654	ENSG00000154654		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	7657	protein-coding gene	gene with protein product		602040				9226371	Standard	NM_004540		Approved	NCAM21, MGC51008	uc002yld.2	O15394	OTTHUMG00000078121	ENST00000400546.1:c.1278G>A	21.37:g.22782676G>A						NCAM2_ENST00000284894.7_Silent_p.S284S	p.S426S	NM_004540.3	NP_004531.2	O15394	NCAM2_HUMAN		all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174)	10	1527	+		Lung NSC(9;0.195)	426			Ig-like C2-type 5.		A8MQ06|B7Z841|Q7Z7F2	Silent	SNP	ENST00000400546.1	37	c.1278G>A	CCDS42910.1																																																																																				0.323	NCAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000170915.1	NM_004540		29	80	0	0	0	0.008361	0	29	80					A	22782676	G	A	22782676	2	1	181	1	0	0	0	0	0	0	0	1	10203	1045	37	2		2	NCAM2	21	22782676	Silent	SNP	G	TCGA-G9-6499-01A-12D-1961-08		22782676	25347219	43	8513											
ASCC2	84164	broad.mit.edu	37	chr22	30221628	30221628	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tacctggcaccagaatttatCgtgaggcaaggccaggagcc	11	7	12	11	1	0	2	0	1	0	1	1	3	0	3	4	4	2	2	4	4	4	3			TCGA-G9-6499-01A-12D-1961-08	TCGA-G9-6499-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fa7c553-f043-4ce7-9587-bb7ffc8d4b65	5fcb803a-2051-46ce-bd29-cc6ad5825bcd	g.chr22:30221628C>T	ENST00000397771.2	-	4	400	c.223G>A	c.(223-225)Gat>Aat	p.D75N	ASCC2_ENST00000542393.1_Intron|ASCC2_ENST00000307790.3_Missense_Mutation_p.D75N			Q9H1I8	ASCC2_HUMAN	activating signal cointegrator 1 complex subunit 2	75					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)					endometrium(3)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(5;0.000103)|Epithelial(10;0.0169)|all cancers(5;0.0259)			CAGAATTTATCGTGAGGCAAG	0.502																																						ENST00000397771.2																			0				endometrium(3)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	18						c.(223-225)Gat>Aat		activating signal cointegrator 1 complex subunit 2							89	80	84					22																	30221628		2203	4300	6503	SO:0001583	missense	84164				regulation of transcription, DNA-dependent|transcription, DNA-dependent			g.chr22:30221628C>T	AY013289	CCDS13869.1, CCDS56226.1	22q12.1	2004-07-27			ENSG00000100325	ENSG00000100325			24103	protein-coding gene	gene with protein product	"ASC 1 complex subunit P100"	614216				12077347, 9847074	Standard	NM_032204		Approved	ASC1p100, FLJ21588, DKFZp586O0223	uc003agr.3	Q9H1I8	OTTHUMG00000067658	ENST00000397771.2:c.223G>A	22.37:g.30221628C>T	ENSP00000380877:p.Asp75Asn					ASCC2_ENST00000542393.1_Intron|ASCC2_ENST00000307790.3_Missense_Mutation_p.D75N	p.D75N			Q9H1I8	ASCC2_HUMAN	OV - Ovarian serous cystadenocarcinoma(5;0.000103)|Epithelial(10;0.0169)|all cancers(5;0.0259)		4	400	-			75					B7Z8E0|F5H6J9|Q4TT54|Q8TAZ0|Q9H711|Q9H9D6	Missense_Mutation	SNP	ENST00000397771.2	37	c.223G>A	CCDS13869.1	.	.	.	.	.	.	.	.	.	.	C	12.96	2.093080	0.36952	.	.	ENSG00000100325	ENST00000307790;ENST00000397771;ENST00000431535;ENST00000412689	T;T;T;T	0.40476	1.03;1.03;1.03;1.03	5.98	3.73	0.42828	.	0.000000	0.85682	D	0.000000	T	0.26231	0.0640	L	0.31120	0.905	0.80722	D	1	B	0.26935	0.164	B	0.19148	0.024	T	0.03818	-1.1001	10	0.14252	T	0.57	-15.6229	11.1589	0.48503	0.0:0.8016:0.1278:0.0706	.	75	Q9H1I8	ASCC2_HUMAN	N	75	ENSP00000305502:D75N;ENSP00000380877:D75N;ENSP00000412382:D75N;ENSP00000417032:D75N	ENSP00000305502:D75N	D	-	1	0	ASCC2	28551628	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.268000	0.51585	2.838000	0.97847	0.655000	0.94253	GAT		0.502	ASCC2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322127.1	NM_032204		10	102	0	0	0	0.008291	0	10	102					T	30221628	C	T	30221628	3	4	181	1	0	0	0	0	1	0	0	0	1032	884	31	2	2122	2	ASCC2	22	30221628	Missense_Mutation	SNP	C	TCGA-G9-6499-01A-12D-1961-08		30221628	21082938	44	8514											
TUBGCP6	85378	broad.mit.edu	37	chr22	50658944	50658944	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gggctcagcttctggtgagaGagcccccagcaccatgtggg	7	7	15	12	0	2	2	1	1	1	1	2	3	2	2	3	3	3	3	3	3	0	1			TCGA-G9-6499-01A-12D-1961-08	TCGA-G9-6499-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fa7c553-f043-4ce7-9587-bb7ffc8d4b65	5fcb803a-2051-46ce-bd29-cc6ad5825bcd	g.chr22:50658944G>C	ENST00000248846.5	-	16	3948	c.3844C>G	c.(3844-3846)Ctc>Gtc	p.L1282V	TUBGCP6_ENST00000439308.2_Missense_Mutation_p.L1282V|TUBGCP6_ENST00000491449.1_5'UTR			Q96RT7	GCP6_HUMAN	tubulin, gamma complex associated protein 6	1282					G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|gamma-tubulin ring complex (GO:0008274)|membrane (GO:0016020)|microtubule (GO:0005874)|spindle pole (GO:0000922)	microtubule binding (GO:0008017)			breast(4)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(13)|ovary(3)|prostate(2)|skin(2)	45		all_cancers(38;5.79e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21)		TCTGGTGAGAGAGCCCCCAGC	0.652																																						ENST00000439308.2																			0				breast(4)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(13)|ovary(3)|prostate(2)|skin(2)	45						c.(3844-3846)Ctc>Gtc		tubulin, gamma complex associated protein 6							28	29	29					22																	50658944		2203	4300	6503	SO:0001583	missense	85378				G2/M transition of mitotic cell cycle|microtubule nucleation	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	microtubule binding	g.chr22:50658944G>C	AB051456	CCDS14087.1	22q13.31-q13.33	2008-07-01			ENSG00000128159	ENSG00000128159			18127	protein-coding gene	gene with protein product	"gamma-tubulin complex component 6"	610053				11694571, 11258795	Standard	XR_244458		Approved	GCP6, KIAA1669, DJ402G11.6	uc003bkb.1	Q96RT7	OTTHUMG00000030150	ENST00000248846.5:c.3844C>G	22.37:g.50658944G>C	ENSP00000248846:p.Leu1282Val					TUBGCP6_ENST00000248846.5_Missense_Mutation_p.L1282V|TUBGCP6_ENST00000491449.1_5'UTR	p.L1282V	NM_020461.3	NP_065194.2	Q96RT7	GCP6_HUMAN		LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21)	16	4336	-		all_cancers(38;5.79e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)	1282					Q5JZ80|Q6PJ40|Q86YE9|Q9BY91|Q9UGX3|Q9UGX4	Missense_Mutation	SNP	ENST00000248846.5	37	c.3844C>G	CCDS14087.1	.	.	.	.	.	.	.	.	.	.	G	3.820	-0.037857	0.07497	.	.	ENSG00000128159	ENST00000248846;ENST00000439308	T;T	0.18016	3.07;2.24	4.65	1.22	0.21188	.	23.731100	0.00166	N	0.000000	T	0.13329	0.0323	N	0.11927	0.2	0.09310	N	1	B;B;B	0.23128	0.037;0.08;0.065	B;B;B	0.28305	0.088;0.088;0.079	T	0.36696	-0.9737	10	0.22706	T	0.39	.	11.9397	0.52894	0.0699:0.2309:0.6993:0.0	.	1274;1282;1282	B2RWN4;Q96RT7;Q96RT7-3	.;GCP6_HUMAN;.	V	1282	ENSP00000248846:L1282V;ENSP00000397387:L1282V	ENSP00000248846:L1282V	L	-	1	0	TUBGCP6	49001071	0.013000	0.17824	0.000000	0.03702	0.000000	0.00434	1.896000	0.39789	0.211000	0.20683	-1.872000	0.00552	CTC		0.652	TUBGCP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075004.3	NM_020461		6	27	0	0	0	0.001984	0	6	27					C	50658944	G	C	50658944	3	2	181	1	0	0	0	0	1	0	0	0	16767	942	33	5	1655	5	TUBGCP6	22	50658944	Missense_Mutation	SNP	G	TCGA-G9-6499-01A-12D-1961-08	20437316	50658944	645622	45	8515											
TSPAN7	7102	broad.mit.edu	37	chrX	38525456	38525456	+	Frame_Shift_Del	DEL	T	T	-																															tctcccttattgccgagaacTccacaaatgctccctatgtg																										TCGA-G9-6499-01A-12D-1961-08	TCGA-G9-6499-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fa7c553-f043-4ce7-9587-bb7ffc8d4b65	5fcb803a-2051-46ce-bd29-cc6ad5825bcd	g.chrX:38525456delT	ENST00000378482.2	+	2	340	c.163delT	c.(163-165)tccfs	p.S55fs	TSPAN7_ENST00000286824.6_Frame_Shift_Del_p.S72fs|TSPAN7_ENST00000488893.1_3'UTR|TM4SF2_ENST00000465127.1_Frame_Shift_Del_p.S85fs|TSPAN7_ENST00000545599.1_Frame_Shift_Del_p.S29fs|TSPAN7_ENST00000422612.2_Frame_Shift_Del_p.S81fs	NM_004615.3	NP_004606.2	P41732	TSN7_HUMAN	tetraspanin 7	55					viral process (GO:0016032)	integral component of plasma membrane (GO:0005887)				haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	11						TGCCGAGAACTCCACAAATGC	0.512																																						ENST00000378482.2																			0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	11						c.(163-165)ccfs		tetraspanin 7							227	158	182					X																	38525456		2202	4300	6502	SO:0001589	frameshift_variant	7102				interspecies interaction between organisms	integral to plasma membrane		g.chrX:38525456delT	D29808	CCDS14248.1	Xp11.4	2013-02-14	2005-03-21	2005-03-21	ENSG00000156298	ENSG00000156298		"CD molecules", "Tetraspanins"	11854	protein-coding gene	gene with protein product		300096	"transmembrane 4 superfamily member 2", "mental retardation, X-linked 58"	MXS1, TM4SF2, MRX58		12070254	Standard	NM_004615		Approved	DXS1692E, TALLA-1, A15, CD231	uc004deg.4	P41732	OTTHUMG00000024090	ENST00000378482.2:c.163delT	X.37:g.38525456delT	ENSP00000367743:p.Ser55fs					TSPAN7_ENST00000286824.6_Frame_Shift_Del_p.S72fs|TSPAN7_ENST00000488893.1_3'UTR|TM4SF2_ENST00000465127.1_Frame_Shift_Del_p.S85fs|TSPAN7_ENST00000422612.2_Frame_Shift_Del_p.S81fs|TSPAN7_ENST00000545599.1_Frame_Shift_Del_p.S29fs	p.S55fs	NM_004615.3	NP_004606.2	P41732	TSN7_HUMAN			2	340	+			55					B2R5W7|D3DWB1|Q8WVG5|Q9UEY9	Frame_Shift_Del	DEL	ENST00000378482.2	37	c.163delT	CCDS14248.1																																																																																				0.512	TSPAN7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356412.1			17	38						17	38	---	---	---	---	-	38525456	T	-	38525456	7	5	181	1	0	1	0	1	0	0	0	0	16649	1551	54	0	169	0	TSPAN7	23	38525456	Frame_Shift_Del	DEL	T	TCGA-G9-6499-01A-12D-1961-08		38525456	116745104	46	8516											
SHROOM4	57477	broad.mit.edu	37	chrX	50350711	50350713	+	In_Frame_Del	DEL	TCC	TCC	-																															cctcctcctcctcttcctctTcctcttcttcttcttcttcc																								rs6614551		TCGA-G9-6499-01A-12D-1961-08	TCGA-G9-6499-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fa7c553-f043-4ce7-9587-bb7ffc8d4b65	5fcb803a-2051-46ce-bd29-cc6ad5825bcd	g.chrX:50350711_50350713delTCC	ENST00000289292.7	-	6	3712_3714	c.3429_3431delGGA	c.(3427-3432)gaggaa>gaa	p.1143_1144EE>E	SHROOM4_ENST00000460112.3_In_Frame_Del_p.1027_1028EE>E|SHROOM4_ENST00000376020.2_In_Frame_Del_p.1143_1144EE>E			Q9ULL8	SHRM4_HUMAN	shroom family member 4	1143	Glu-rich.				actin cytoskeleton organization (GO:0030036)|actin filament organization (GO:0007015)|brain development (GO:0007420)|cognition (GO:0050890)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|myosin II complex (GO:0016460)|stress fiber (GO:0001725)	actin filament binding (GO:0051015)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	52	Ovarian(276;0.236)					ctcttcctcttcctcttcttctt	0.547																																						ENST00000376020.2																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	52						c.(3427-3432)gaa>ga		shroom family member 4																																				SO:0001651	inframe_deletion	57477				actin filament organization|brain development|cell morphogenesis|cognition	apical plasma membrane|basal plasma membrane|internal side of plasma membrane|nucleus	actin filament binding	g.chrX:50350711_50350713delTCC	AB033028	CCDS35277.1	Xp11.22	2008-02-05			ENSG00000158352	ENSG00000158352			29215	protein-coding gene	gene with protein product		300579				10574462, 16615870	Standard	NR_027121		Approved	KIAA1202	uc004dpe.2	Q9ULL8	OTTHUMG00000021521	ENST00000289292.7:c.3429_3431delGGA	X.37:g.50350711_50350713delTCC	ENSP00000289292:p.Glu1151del					SHROOM4_ENST00000460112.3_In_Frame_Del_p.EE1033del|SHROOM4_ENST00000289292.7_In_Frame_Del_p.EE1149del	p.EE1149del	NM_020717.3	NP_065768.2	Q9ULL8	SHRM4_HUMAN			6	3454_3456	-	Ovarian(276;0.236)		1149			Glu-rich.		A7E2X9|D6RFW0|Q96LA0	In_Frame_Del	DEL	ENST00000289292.7	37	c.3429_3431delGGA	CCDS35277.1																																																																																				0.547	SHROOM4-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056564.4	NM_020717		5	10						5	10	---	---	---	---	-	50350713	TCC	-	50350711	7	5	181	1	0	1	0	1	0	0	0	0	14296	1783	62	0	1066	0	SHROOM4	23	50350711	In_Frame_Del	DEL	TCC	TCGA-G9-6499-01A-12D-1961-08	11825255	50350711	104919849	47	8517											
CHD5	26038	broad.mit.edu	37	chr1	6202222	6202222	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ccttcttcccactccgaatgGcgttgtcctcaaaggaaaac	10	10	7	14	2	2	0	1	0	1	0	5	2	5	1	4	2	1	1	4	2	4	3			TCGA-G9-7509-01A-11D-A41K-08	TCGA-G9-7509-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffdfc835-b6f2-4369-9f20-0c2b094020d0	38029fed-8935-4482-a4e6-d0be1258b2e0	g.chr1:6202222G>A	ENST00000262450.3	-	15	2501	c.2402C>T	c.(2401-2403)gCc>gTc	p.A801V	CHD5_ENST00000378021.1_5'UTR	NM_015557.2	NP_056372.1	O00258	WRB_HUMAN	chromodomain helicase DNA binding protein 5	0					tail-anchored membrane protein insertion into ER membrane (GO:0071816)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)				breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		ACTCCGAATGGCGTTGTCCTC	0.577																																						ENST00000262450.3																			0				breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16						c.(2401-2403)gCc>gTc		chromodomain helicase DNA binding protein 5							169	158	162					1																	6202222		2203	4300	6503	SO:0001583	missense	26038				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding	g.chr1:6202222G>A	AF425231	CCDS57.1	1p36.3	2013-01-28			ENSG00000116254	ENSG00000116254		"Zinc fingers, PHD-type"	16816	protein-coding gene	gene with protein product		610771				11889561, 12592387	Standard	NM_015557		Approved		uc001amb.2	Q8TDI0	OTTHUMG00000000952	ENST00000262450.3:c.2402C>T	1.37:g.6202222G>A	ENSP00000262450:p.Ala801Val					CHD5_ENST00000378021.1_5'UTR	p.A801V	NM_015557.2	NP_056372.1	Q8TDI0	CHD5_HUMAN		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)	15	2501	-	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)	801			Helicase ATP-binding.		A8KAP8|A8MQ44|D3DSH9|O60740	Missense_Mutation	SNP	ENST00000262450.3	37	c.2402C>T	CCDS57.1	.	.	.	.	.	.	.	.	.	.	G	28.8	4.955651	0.92726	.	.	ENSG00000116254	ENST00000262450;ENST00000378006;ENST00000536802;ENST00000538279	D	0.90900	-2.75	4.07	4.07	0.47477	DEAD-like helicase (2);SNF2-related (1);	0.073472	0.53938	D	0.000051	D	0.92770	0.7701	L	0.41710	1.295	0.80722	D	1	D	0.69078	0.997	D	0.79108	0.992	D	0.93421	0.6777	10	0.54805	T	0.06	-22.6321	16.6218	0.84932	0.0:0.0:1.0:0.0	.	801	Q8TDI0	CHD5_HUMAN	V	801;317;209;209	ENSP00000262450:A801V	ENSP00000262450:A801V	A	-	2	0	CHD5	6124809	1.000000	0.71417	0.998000	0.56505	0.988000	0.76386	7.843000	0.86859	1.977000	0.57605	0.561000	0.74099	GCC		0.577	CHD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000002823.2	NM_015557		15	199	0	0	0	1	0	15	199					A	6202222	G	A	6202222	3	1	182	1	0	0	0	0	1	0	0	0	3328	1203	42	3	3570	3	CHD5	1	6202222	Missense_Mutation	SNP	G	TCGA-G9-7509-01A-11D-A41K-08		6202222	243048399	1	8518											
SHC1	6464	broad.mit.edu	37	chr1	154940985	154940985	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	accaacctgtttgcagtctgCggccatgaggttgaggctgc	7	10	13	11	1	1	2	0	2	1	0	1	2	1	2	3	3	4	4	3	3	1	2	rs371992948	byFrequency	TCGA-G9-7509-01A-11D-A41K-08	TCGA-G9-7509-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffdfc835-b6f2-4369-9f20-0c2b094020d0	38029fed-8935-4482-a4e6-d0be1258b2e0	g.chr1:154940985C>T	ENST00000368445.5	-	4	950	c.736G>A	c.(736-738)Gca>Aca	p.A246T	SHC1_ENST00000606391.1_Missense_Mutation_p.A47T|SHC1_ENST00000368449.4_Missense_Mutation_p.A17T|SHC1_ENST00000368450.1_Missense_Mutation_p.A136T|SHC1_ENST00000368453.4_Missense_Mutation_p.A136T|SHC1_ENST00000490667.1_5'Flank|SHC1_ENST00000448116.2_Missense_Mutation_p.A246T	NM_183001.4	NP_892113.4	P29353	SHC1_HUMAN	SHC (Src homology 2 domain containing) transforming protein 1	246	PID. {ECO:0000255|PROSITE- ProRule:PRU00148}.				actin cytoskeleton reorganization (GO:0031532)|activation of MAPK activity (GO:0000187)|activation of signaling protein activity involved in unfolded protein response (GO:0006987)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet activation (GO:0030168)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|Ras protein signal transduction (GO:0007265)|regulation of epidermal growth factor-activated receptor activity (GO:0007176)|regulation of growth (GO:0040008)|single organismal cell-cell adhesion (GO:0016337)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|Shc-EGFR complex (GO:0070435)	ephrin receptor binding (GO:0046875)|epidermal growth factor receptor binding (GO:0005154)|insulin receptor binding (GO:0005158)|insulin-like growth factor receptor binding (GO:0005159)|neurotrophin TRKA receptor binding (GO:0005168)|phospholipid binding (GO:0005543)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)			breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(8)|prostate(1)|skin(1)	20	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			TTGCAGTCTGCGGCCATGAGG	0.552													C|||	2	0.000399361	0	0	5008	,	,		19286	0.001		0	False		,,,				2504	0.001				NSCLC(4;32 234 1864 2492 3259 13747 17376)	ENST00000448116.2																			0				breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(8)|prostate(1)|skin(1)	20						c.(736-738)Gca>Aca		SHC (Src homology 2 domain containing) transforming protein 1		C	THR/ALA,THR/ALA,THR/ALA,THR/ALA,THR/ALA	0,4406		0,0,2203	192	202	199		736,406,271,406,736	5.4	1	1		199	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense,missense	SHC1	NM_001130040.1,NM_001130041.1,NM_001202859.1,NM_003029.4,NM_183001.4	58,58,58,58,58	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign,benign,benign,benign,benign	246/585,136/474,91/429,136/475,246/584	154940985	1,13005	2203	4300	6503	SO:0001583	missense	6464				activation of MAPK activity|blood coagulation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|positive regulation of DNA replication|Ras protein signal transduction|regulation of epidermal growth factor receptor activity|regulation of growth	cytosol|mitochondrial matrix|Shc-EGFR complex	epidermal growth factor receptor binding|insulin receptor binding|insulin-like growth factor receptor binding|phospholipid binding|protein binding|transmembrane receptor protein tyrosine kinase adaptor activity	g.chr1:154940985C>T	U73377	CCDS1076.1, CCDS30881.1, CCDS44233.1, CCDS44234.1	1q21	2013-02-14	2002-01-14		ENSG00000160691	ENSG00000160691		"SH2 domain containing"	10840	protein-coding gene	gene with protein product		600560	"SHC (Src homology 2 domain-containing) transforming protein 1"	SHC		1623525	Standard	NM_003029		Approved	p66	uc001ffw.3	P29353	OTTHUMG00000037295	ENST00000368445.5:c.736G>A	1.37:g.154940985C>T	ENSP00000357430:p.Ala246Thr					SHC1_ENST00000368445.5_Missense_Mutation_p.A246T|SHC1_ENST00000368450.1_Missense_Mutation_p.A136T|SHC1_ENST00000368453.4_Missense_Mutation_p.A136T|SHC1_ENST00000606391.1_Missense_Mutation_p.A47T|SHC1_ENST00000368449.4_Missense_Mutation_p.A17T	p.A246T	NM_001130040.1	NP_001123512.1	P29353	SHC1_HUMAN	BRCA - Breast invasive adenocarcinoma(34;0.00034)		4	956	-	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245)		246			PID.		B5BU19|D3DV78|O15290|Q5T180|Q5T183|Q5T184|Q5T185|Q5T186|Q8N4K5|Q96CL1	Missense_Mutation	SNP	ENST00000368445.5	37	c.736G>A	CCDS30881.1	.	.	.	.	.	.	.	.	.	.	C	15.42	2.827512	0.50845	0.0	1.16E-4	ENSG00000160691	ENST00000368445;ENST00000448116;ENST00000368449;ENST00000368453;ENST00000368450;ENST00000368443;ENST00000414115;ENST00000444179;ENST00000412170;ENST00000366442	T;T;T;T;T;T;T;T;T	0.32272	2.07;2.07;2.07;2.07;2.07;1.46;2.07;2.07;2.07	5.45	5.45	0.79879	Phosphotyrosine interaction domain (3);Pleckstrin homology-type (1);	0.124032	0.53938	D	0.000045	T	0.07143	0.0181	N	0.11000	0.08	0.33533	D	0.593833	B;B;B	0.32829	0.386;0.023;0.029	B;B;B	0.29524	0.103;0.009;0.016	T	0.19031	-1.0318	10	0.23891	T	0.37	.	12.4188	0.55508	0.283:0.717:0.0:0.0	.	25;246;246	Q59HB0;P29353-6;P29353	.;.;SHC1_HUMAN	T	246;246;47;136;136;182;17;17;136;136	ENSP00000357430:A246T;ENSP00000401303:A246T;ENSP00000357434:A47T;ENSP00000357438:A136T;ENSP00000357435:A136T;ENSP00000404908:A17T;ENSP00000398864:A17T;ENSP00000398441:A136T;ENSP00000396162:A136T	ENSP00000396162:A136T	A	-	1	0	SHC1	153207609	0.998000	0.40836	1.000000	0.80357	0.993000	0.82548	0.811000	0.27198	2.555000	0.86185	0.467000	0.42956	GCA		0.552	SHC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000090781.2	NM_183001		5	235	0	0	0	1	0	5	235					T	154940985	C	T	154940985	3	4	182	1	0	0	0	0	1	0	0	0	14270	768	27	1	1054	1	SHC1	1	154940985	Missense_Mutation	SNP	C	TCGA-G9-7509-01A-11D-A41K-08	148738763	154940985	94309636	2	8519											
KIAA0907	22889	broad.mit.edu	37	chr1	155896893	155896893	+	Splice_Site	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtgagccaaaaacattacttActgtccactaattcccgtgt	12	12	6	11	1	0	1	0	1	0	0	2	1	2	1	3	0	4	0	3	0	5	4			TCGA-G9-7509-01A-11D-A41K-08	TCGA-G9-7509-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffdfc835-b6f2-4369-9f20-0c2b094020d0	38029fed-8935-4482-a4e6-d0be1258b2e0	g.chr1:155896893A>C	ENST00000368321.3	-	5	541		c.e5+1		KIAA0907_ENST00000482337.1_Splice_Site|SCARNA4_ENST00000516999.1_RNA|KIAA0907_ENST00000368319.3_Splice_Site|KIAA0907_ENST00000368320.3_Splice_Site	NM_014949.2	NP_055764.2	Q7Z7F0	K0907_HUMAN	KIAA0907								RNA binding (GO:0003723)			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|urinary_tract(1)	21	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;8.82e-06)			AACATTACTTACTGTCCACTA	0.423																																						ENST00000368320.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|urinary_tract(1)	21						c.e5+1		KIAA0907							118	100	106					1																	155896893		2203	4300	6503	SO:0001630	splice_region_variant	22889							g.chr1:155896893A>C	BC062637	CCDS30885.1	1q22	2012-11-30			ENSG00000132680	ENSG00000132680			29145	protein-coding gene	gene with protein product						10048485	Standard	NM_014949		Approved	BLOM7	uc001fmi.1	Q7Z7F0	OTTHUMG00000014103	ENST00000368321.3:c.517+1T>G	1.37:g.155896893A>C						KIAA0907_ENST00000368319.3_Splice_Site|KIAA0907_ENST00000368321.3_Splice_Site|KIAA0907_ENST00000482337.1_Splice_Site				Q7Z7F0	K0907_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;8.82e-06)		5	543	-	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)							O94981|Q7L7Q2|Q7Z7E9|Q8TBQ0	Splice_Site	SNP	ENST00000368321.3	37		CCDS30885.1	.	.	.	.	.	.	.	.	.	.	A	22.3	4.273797	0.80580	.	.	ENSG00000132680	ENST00000368321;ENST00000368320;ENST00000368319	.	.	.	5.1	5.1	0.69264	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.3725	0.55261	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	KIAA0907	154163517	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	8.761000	0.91691	2.141000	0.66446	0.454000	0.30748	.		0.423	KIAA0907-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039583.1	NM_014949	Intron	4	86	0	0	0	1	0	4	86					C	155896893	A	C	155896893	5	2	182	1	0	0	0	0	0	0	1	0	8199	405	14	5	1365	5	KIAA0907	1	155896893	Splice_Site	SNP	A	TCGA-G9-7509-01A-11D-A41K-08	955908	155896893	93353728	3	8520											
LHX4	89884	broad.mit.edu	37	chr1	180241031	180241031	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaaggatgcagggcggcaccGctgggggcagttctataaga	10	6	17	8	2	1	1	0	0	1	1	1	3	1	2	1	5	1	5	1	5	3	3			TCGA-G9-7509-01A-11D-A41K-08	TCGA-G9-7509-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffdfc835-b6f2-4369-9f20-0c2b094020d0	38029fed-8935-4482-a4e6-d0be1258b2e0	g.chr1:180241031G>A	ENST00000263726.2	+	5	912	c.668G>A	c.(667-669)cGc>cAc	p.R223H	RP5-1180C10.2_ENST00000440959.2_RNA|RP5-1180C10.2_ENST00000415414.1_RNA	NM_033343.3	NP_203129.1	Q969G2	LHX4_HUMAN	LIM homeobox 4	223					medial motor column neuron differentiation (GO:0021526)|motor neuron axon guidance (GO:0008045)|negative regulation of apoptotic process (GO:0043066)|organ morphogenesis (GO:0009887)|placenta development (GO:0001890)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)	16						GGGCGGCACCGCTGGGGGCAG	0.582																																						ENST00000263726.2																			0				endometrium(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)	16						c.(667-669)cGc>cAc		LIM homeobox 4							77	88	85					1																	180241031		2203	4300	6503	SO:0001583	missense	89884					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr1:180241031G>A	AB037683	CCDS1338.1	1q25.3	2011-06-20			ENSG00000121454	ENSG00000121454		"Homeoboxes / LIM class"	21734	protein-coding gene	gene with protein product		602146				11844481, 11567216	Standard	NM_033343		Approved	Gsh4	uc001goe.2	Q969G2	OTTHUMG00000035115	ENST00000263726.2:c.668G>A	1.37:g.180241031G>A	ENSP00000263726:p.Arg223His					RP5-1180C10.2_ENST00000415414.1_RNA	p.R223H	NM_033343.3	NP_203129.1	Q969G2	LHX4_HUMAN			5	912	+			223					Q8NHE0|Q8NHM1|Q8TCJ1|Q8WWX2|Q969W2	Missense_Mutation	SNP	ENST00000263726.2	37	c.668G>A	CCDS1338.1	.	.	.	.	.	.	.	.	.	.	G	36	5.700285	0.96802	.	.	ENSG00000121454	ENST00000263726	D	0.89875	-2.58	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	D	0.94324	0.8176	M	0.73962	2.25	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	D	0.94620	0.7812	10	0.87932	D	0	.	18.3679	0.90398	0.0:0.0:1.0:0.0	.	223	Q969G2	LHX4_HUMAN	H	223	ENSP00000263726:R223H	ENSP00000263726:R223H	R	+	2	0	LHX4	178507654	1.000000	0.71417	0.998000	0.56505	0.956000	0.61745	9.647000	0.98478	2.631000	0.89168	0.561000	0.74099	CGC		0.582	LHX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084995.2	NM_033343		5	93	0	0	0	1	0	5	93					A	180241031	G	A	180241031	3	1	182	1	0	0	0	0	1	0	0	0	8773	1087	38	1	686	1	LHX4	1	180241031	Missense_Mutation	SNP	G	TCGA-G9-7509-01A-11D-A41K-08	24344138	180241031	69009590	4	8521											
RYR2	6262	broad.mit.edu	37	chr1	237586430	237586430	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aagatggggacagccattccGactacgccatgtcacaacag	13	6	10	12	2	1	1	1	0	0	1	2	3	2	2	3	2	3	0	3	2	3	2			TCGA-G9-7509-01A-11D-A41K-08	TCGA-G9-7509-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffdfc835-b6f2-4369-9f20-0c2b094020d0	38029fed-8935-4482-a4e6-d0be1258b2e0	g.chr1:237586430G>A	ENST00000366574.2	+	12	1204	c.887G>A	c.(886-888)cGa>cAa	p.R296Q	RYR2_ENST00000360064.6_Missense_Mutation_p.R294Q|RYR2_ENST00000542537.1_Missense_Mutation_p.R280Q	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	296	MIR 4. {ECO:0000255|PROSITE- ProRule:PRU00131}.				BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			CAGCCATTCCGACTACGCCAT	0.418																																						ENST00000366574.2																			0				NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586						c.(886-888)cGa>cAa		ryanodine receptor 2 (cardiac)							165	161	162					1																	237586430		1934	4135	6069	SO:0001583	missense	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237586430G>A	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"Ion channels / Ryanodine receptors", "EF-hand domain containing"	10484	protein-coding gene	gene with protein product		180902	"arrhythmogenic right ventricular dysplasia 2"	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.887G>A	1.37:g.237586430G>A	ENSP00000355533:p.Arg296Gln					RYR2_ENST00000542537.1_Missense_Mutation_p.R280Q|RYR2_ENST00000360064.6_Missense_Mutation_p.R294Q	p.R296Q	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		12	1204	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	296			MIR 4.		Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	c.887G>A	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	G	35	5.596093	0.96602	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	D;D;D	0.97430	-4.38;-4.38;-4.38	5.42	5.42	0.78866	MIR motif (2);MIR (2);	0.000000	0.56097	D	0.000026	D	0.98317	0.9442	M	0.87900	2.915	0.80722	D	1	D	0.69078	0.997	P	0.57468	0.821	D	0.99236	1.0883	10	0.87932	D	0	.	19.2044	0.93724	0.0:0.0:1.0:0.0	.	296	Q92736	RYR2_HUMAN	Q	296;294;280	ENSP00000355533:R296Q;ENSP00000353174:R294Q;ENSP00000443798:R280Q	ENSP00000353174:R294Q	R	+	2	0	RYR2	235653053	1.000000	0.71417	0.997000	0.53966	0.975000	0.68041	9.781000	0.99029	2.541000	0.85698	0.655000	0.94253	CGA		0.418	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		5	60	0	0	0	1	0	5	60					A	237586430	G	A	237586430	3	1	182	1	0	0	0	0	1	0	0	0	13769	1058	37	2	933	2	RYR2	1	237586430	Missense_Mutation	SNP	G	TCGA-G9-7509-01A-11D-A41K-08	57345399	237586430	11664191	5	8522											
GREB1	9687	broad.mit.edu	37	chr2	11736314	11736314	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttcctcactcgctgcctctTctgtcactaaagcagcatcc	7	12	5	17	1	4	0	2	0	2	0	7	0	6	0	3	0	3	3	3	0	2	3			TCGA-G9-7509-01A-11D-A41K-08	TCGA-G9-7509-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffdfc835-b6f2-4369-9f20-0c2b094020d0	38029fed-8935-4482-a4e6-d0be1258b2e0	g.chr2:11736314T>C	ENST00000381486.2	+	13	2203	c.1903T>C	c.(1903-1905)Tct>Cct	p.S635P	GREB1_ENST00000234142.5_Missense_Mutation_p.S635P	NM_014668.3	NP_055483.2	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	635						integral component of membrane (GO:0016021)				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		CGCTGCCTCTTCTGTCACTAA	0.478																																					Ovarian(39;850 945 2785 23371 33093)	ENST00000381486.2																			0				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30						c.(1903-1905)Tct>Cct		growth regulation by estrogen in breast cancer 1							107	101	103					2																	11736314		2034	4211	6245	SO:0001583	missense	9687					integral to membrane		g.chr2:11736314T>C		CCDS33146.1, CCDS33147.1, CCDS42655.1	2p25.1	2010-02-17	2009-09-10		ENSG00000196208	ENSG00000196208			24885	protein-coding gene	gene with protein product	"gene regulated by estrogen in breast cancer"	611736				11103799	Standard	NM_014668		Approved	KIAA0575	uc002rbk.1	Q4ZG55	OTTHUMG00000141276	ENST00000381486.2:c.1903T>C	2.37:g.11736314T>C	ENSP00000370896:p.Ser635Pro					GREB1_ENST00000234142.5_Missense_Mutation_p.S635P	p.S635P	NM_014668.3	NP_055483.2	Q4ZG55	GREB1_HUMAN		Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)	13	2203	+	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		635					A6NHD0|A6NKN0|B5MDA9|O60321|Q7Z5S2|Q9H2Q6|Q9H2Q7|Q9H2Q8	Missense_Mutation	SNP	ENST00000381486.2	37	c.1903T>C	CCDS42655.1	.	.	.	.	.	.	.	.	.	.	T	17.11	3.305172	0.60305	.	.	ENSG00000196208	ENST00000381486;ENST00000234142;ENST00000432985	T;T;T	0.46451	3.2;3.2;0.87	4.95	4.95	0.65309	.	1.092850	0.06903	N	0.806260	T	0.55955	0.1953	L	0.40543	1.245	0.31483	N	0.66693	D;D	0.71674	0.997;0.998	D;P	0.66351	0.943;0.905	T	0.46484	-0.9188	10	0.33940	T	0.23	-5.1662	12.632	0.56663	0.0:0.0:0.0:1.0	.	269;635	C9JIG0;Q4ZG55	.;GREB1_HUMAN	P	635;635;269	ENSP00000370896:S635P;ENSP00000234142:S635P;ENSP00000403886:S269P	ENSP00000234142:S635P	S	+	1	0	GREB1	11653765	0.994000	0.37717	0.537000	0.28052	0.991000	0.79684	3.182000	0.50910	1.977000	0.57605	0.528000	0.53228	TCT		0.478	GREB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280490.1	NM_014668		6	66	0	0	0	1	0	6	66					C	11736314	T	C	11736314	3	2	182	1	0	0	0	0	1	0	0	0	6760	1783	62	4	2057	4	GREB1	2	11736314	Missense_Mutation	SNP	T	TCGA-G9-7509-01A-11D-A41K-08		11736314	231463059	6	8523											
USP34	9736	broad.mit.edu	37	chr2	61492578	61492580	+	In_Frame_Del	DEL	TGC	TGC	-																															cctcaggtatcatataaagtTgctgaatagtagaagctaag																										TCGA-G9-7509-01A-11D-A41K-08	TCGA-G9-7509-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffdfc835-b6f2-4369-9f20-0c2b094020d0	38029fed-8935-4482-a4e6-d0be1258b2e0	g.chr2:61492578_61492580delTGC	ENST00000398571.2	-	43	5806_5808	c.5730_5732delGCA	c.(5728-5733)cagcaa>caa	p.1910_1911QQ>Q		NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	1910	USP.				positive regulation of canonical Wnt signaling pathway (GO:0090263)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|ubiquitin-dependent protein catabolic process (GO:0006511)|Wnt signaling pathway (GO:0016055)		cysteine-type endopeptidase activity (GO:0004197)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			CATATAAAGTTGCTGAATAGTAG	0.36																																						ENST00000398571.2																			0				autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138						c.(5728-5733)caa>ca		ubiquitin specific peptidase 34																																				SO:0001651	inframe_deletion	9736				positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr2:61492578_61492580delTGC	AB011142	CCDS42686.1	2p16.1-p15	2005-08-08	2005-08-08		ENSG00000115464	ENSG00000115464		"Ubiquitin-specific peptidases"	20066	protein-coding gene	gene with protein product		615295	"ubiquitin specific protease 34"			12838346	Standard	NM_014709		Approved	KIAA0570, KIAA0729	uc002sbe.3	Q70CQ2	OTTHUMG00000152265	ENST00000398571.2:c.5730_5732delGCA	2.37:g.61492578_61492580delTGC	ENSP00000381577:p.Gln1911del						p.QQ1910del	NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	Epithelial(17;0.229)		43	5806_5808	-			1910					A8MWD0|B3KWU9|O60316|O94834|Q3B777|Q6P6C9|Q7L8P6|Q8N3T9|Q8TBW2|Q9UGA1	In_Frame_Del	DEL	ENST00000398571.2	37	c.5730_5732delGCA	CCDS42686.1																																																																																				0.36	USP34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325650.4			21	84						21	84	---	---	---	---	-	61492580	TGC	-	61492578	7	5	182	1	0	1	0	1	0	0	0	0	17062	1812	63	0	5060	0	USP34	2	61492578	In_Frame_Del	DEL	TGC	TCGA-G9-7509-01A-11D-A41K-08	49756264	61492578	181706795	7	8524											
RANBP2	5903	broad.mit.edu	37	chr2	109365424	109365424	+	Missense_Mutation	SNP	A	A	T																															caagcaagattttttaaaagAgattgttgaaacttttgcca																										TCGA-G9-7509-01A-11D-A41K-08	TCGA-G9-7509-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffdfc835-b6f2-4369-9f20-0c2b094020d0	38029fed-8935-4482-a4e6-d0be1258b2e0	g.chr2:109365424A>T	ENST00000283195.6	+	9	1238	c.1112A>T	c.(1111-1113)gAg>gTg	p.E371V		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	371					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|negative regulation of glucokinase activity (GO:0033132)|protein folding (GO:0006457)|protein import into nucleus (GO:0006606)|protein sumoylation (GO:0016925)|regulation of gluconeogenesis involved in cellular glucose homeostasis (GO:0090526)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)	ligase activity (GO:0016874)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|Ran GTPase binding (GO:0008536)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)		RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						TTTTTAAAAGAGATTGTTGAA	0.338																																						ENST00000283195.6																		RANBP2/ALK(34)	0				NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						c.(1111-1113)gAg>gTg		RAN binding protein 2							225	236	232					2																	109365424		2203	4300	6503	SO:0001583	missense	5903				carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding	g.chr2:109365424A>T	D42063	CCDS2079.1	2q13	2013-11-14			ENSG00000153201	ENSG00000153201		"Tetratricopeptide (TTC) repeat domain containing"	9848	protein-coding gene	gene with protein product		601181	"acute necrotizing encephalopathy 1 (autosomal dominant)"	ANE1		7724562, 19118815	Standard	NM_006267		Approved	NUP358, ADANE	uc002tem.4	P49792	OTTHUMG00000130981	ENST00000283195.6:c.1112A>T	2.37:g.109365424A>T	ENSP00000283195:p.Glu371Val						p.E371V	NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN			9	1238	+			371					Q13074|Q15280|Q53TE2|Q59FH7	Missense_Mutation	SNP	ENST00000283195.6	37	c.1112A>T	CCDS2079.1	.	.	.	.	.	.	.	.	.	.	A	14.79	2.640360	0.47153	.	.	ENSG00000153201	ENST00000409491;ENST00000283195	T	0.26518	1.73	5.53	5.53	0.82687	.	.	.	.	.	T	0.49064	0.1535	L	0.56769	1.78	0.29218	N	0.874091	D	0.76494	0.999	D	0.83275	0.996	T	0.47433	-0.9118	9	0.62326	D	0.03	-7.437	15.9435	0.79776	1.0:0.0:0.0:0.0	.	371	P49792	RBP2_HUMAN	V	371	ENSP00000283195:E371V	ENSP00000283195:E371V	E	+	2	0	RANBP2	108731856	1.000000	0.71417	0.963000	0.40424	0.070000	0.16714	7.111000	0.77077	2.217000	0.71921	0.528000	0.53228	GAG		0.338	RANBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253594.1	NM_006267		6	290	0	0	0	1	0	6	290					T	109365424	A	T	109365424	3	4	182	1	0	0	0	0	1	0	0	0	13028	304	11	5	1146	5	RANBP2	2	109365424	Missense_Mutation	SNP	A	TCGA-G9-7509-01A-11D-A41K-08	47872846	109365424	133833949	8	8525	48	2									
RANBP2	5903	broad.mit.edu	37	chr2	109365426	109365426	+	Missense_Mutation	SNP	A	A	G																															agcaagattttttaaaagagAttgttgaaacttttgccaac																								rs2693112		TCGA-G9-7509-01A-11D-A41K-08	TCGA-G9-7509-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffdfc835-b6f2-4369-9f20-0c2b094020d0	38029fed-8935-4482-a4e6-d0be1258b2e0	g.chr2:109365426A>G	ENST00000283195.6	+	9	1240	c.1114A>G	c.(1114-1116)Att>Gtt	p.I372V		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	372					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|negative regulation of glucokinase activity (GO:0033132)|protein folding (GO:0006457)|protein import into nucleus (GO:0006606)|protein sumoylation (GO:0016925)|regulation of gluconeogenesis involved in cellular glucose homeostasis (GO:0090526)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)	ligase activity (GO:0016874)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|Ran GTPase binding (GO:0008536)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)		RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						TTTAAAAGAGATTGTTGAAAC	0.343																																						ENST00000283195.6																		RANBP2/ALK(34)	0				NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						c.(1114-1116)Att>Gtt		RAN binding protein 2							229	240	236					2																	109365426		2203	4300	6503	SO:0001583	missense	5903				carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding	g.chr2:109365426A>G	D42063	CCDS2079.1	2q13	2013-11-14			ENSG00000153201	ENSG00000153201		"Tetratricopeptide (TTC) repeat domain containing"	9848	protein-coding gene	gene with protein product		601181	"acute necrotizing encephalopathy 1 (autosomal dominant)"	ANE1		7724562, 19118815	Standard	NM_006267		Approved	NUP358, ADANE	uc002tem.4	P49792	OTTHUMG00000130981	ENST00000283195.6:c.1114A>G	2.37:g.109365426A>G	ENSP00000283195:p.Ile372Val						p.I372V	NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN			9	1240	+			372					Q13074|Q15280|Q53TE2|Q59FH7	Missense_Mutation	SNP	ENST00000283195.6	37	c.1114A>G	CCDS2079.1	.	.	.	.	.	.	.	.	.	.	A	0.004	-2.259837	0.00262	.	.	ENSG00000153201	ENST00000409491;ENST00000283195	T	0.28666	1.6	5.53	0.42	0.16444	.	.	.	.	.	T	0.08935	0.0221	N	0.00972	-1.085	0.22620	N	0.998929	B	0.02656	0.0	B	0.01281	0.0	T	0.33727	-0.9857	9	0.02654	T	1	-8.7147	11.8826	0.52583	0.3655:0.0:0.6345:0.0	rs2693112	372	P49792	RBP2_HUMAN	V	372	ENSP00000283195:I372V	ENSP00000283195:I372V	I	+	1	0	RANBP2	108731858	1.000000	0.71417	0.506000	0.27664	0.021000	0.10359	1.168000	0.31859	-0.130000	0.11599	-0.874000	0.02982	ATT		0.343	RANBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253594.1	NM_006267		6	293	0	0	0	1	0	6	293					G	109365426	A	G	109365426	3	3	182	1	0	0	0	0	1	0	0	0	13028	333	12	4	1148	4	RANBP2	2	109365426	Missense_Mutation	SNP	A	TCGA-G9-7509-01A-11D-A41K-08	2	109365426	133833947	9	8526	48	2									
ZNF385D	79750	broad.mit.edu	37	chr3	21478535	21478535	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaacagtaaagaagccgtttTgccttttcttcctcggtctc	8	14	8	11	2	2	1	0	0	2	1	5	2	3	1	3	1	3	2	3	1	4	6			TCGA-G9-7509-01A-11D-A41K-08	TCGA-G9-7509-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffdfc835-b6f2-4369-9f20-0c2b094020d0	38029fed-8935-4482-a4e6-d0be1258b2e0	g.chr3:21478535T>G	ENST00000281523.2	-	5	1118	c.600A>C	c.(598-600)gcA>gcC	p.A200A	ZNF385D_ENST00000494118.1_5'UTR	NM_024697.2	NP_078973.1	Q9H6B1	Z385D_HUMAN	zinc finger protein 385D	200						nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			NS(2)|breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(1)|prostate(1)|skin(4)	46						GAAGCCGTTTTGCCTTTTCTT	0.478																																						ENST00000281523.2																			0				NS(2)|breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(1)|prostate(1)|skin(4)	46						c.(598-600)gcA>gcC		zinc finger protein 385D							203	169	181					3																	21478535		2203	4300	6503	SO:0001819	synonymous_variant	79750					nucleus	nucleic acid binding|zinc ion binding	g.chr3:21478535T>G	BC007212	CCDS2636.1	3p24.3	2012-10-05	2007-12-06	2007-12-06	ENSG00000151789	ENSG00000151789			26191	protein-coding gene	gene with protein product			"zinc finger protein 659"	ZNF659		12477932	Standard	NM_024697		Approved	FLJ22419	uc003cce.3	Q9H6B1	OTTHUMG00000130484	ENST00000281523.2:c.600A>C	3.37:g.21478535T>G						ZNF385D_ENST00000494118.1_5'UTR	p.A200A	NM_024697.2	NP_078973.1	Q9H6B1	Z385D_HUMAN			5	1118	-			200						Silent	SNP	ENST00000281523.2	37	c.600A>C	CCDS2636.1																																																																																				0.478	ZNF385D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252884.1	NM_024697		8	82	0	0	0	1	0	8	82					G	21478535	T	G	21478535	2	3	182	1	0	0	0	0	0	0	0	1	17875	1799	63	5		5	ZNF385D	3	21478535	Silent	SNP	T	TCGA-G9-7509-01A-11D-A41K-08		21478535	176543895	10	8527											
CCR9	10803	broad.mit.edu	37	chr3	45943240	45943240	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctgttctctatgtttttgtGggtgagagattccgccggga	5	15	13	8	2	1	2	0	1	1	1	3	4	2	3	3	2	0	2	3	2	1	5			TCGA-G9-7509-01A-11D-A41K-08	TCGA-G9-7509-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffdfc835-b6f2-4369-9f20-0c2b094020d0	38029fed-8935-4482-a4e6-d0be1258b2e0	g.chr3:45943240G>C	ENST00000357632.2	+	3	1140	c.960G>C	c.(958-960)gtG>gtC	p.V320V	CCR9_ENST00000422395.1_3'UTR|Y_RNA_ENST00000364765.1_RNA|LZTFL1_ENST00000536047.1_Intron|LZTFL1_ENST00000539217.1_Intron|CCR9_ENST00000395963.2_Silent_p.V308V|CCR9_ENST00000355983.2_Silent_p.V308V	NM_001256369.1|NM_031200.2	NP_001243298.1|NP_112477.1	P51686	CCR9_HUMAN	chemokine (C-C motif) receptor 9	320					cellular defense response (GO:0006968)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|positive regulation of cytosolic calcium ion concentration (GO:0007204)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	C-C chemokine receptor activity (GO:0016493)|chemokine receptor activity (GO:0004950)			breast(1)|endometrium(4)|large_intestine(8)|lung(2)|ovary(2)|prostate(2)|skin(1)	20				BRCA - Breast invasive adenocarcinoma(193;0.00118)|KIRC - Kidney renal clear cell carcinoma(197;0.0182)|Kidney(197;0.0214)		ATGTTTTTGTGGGTGAGAGAT	0.517																																						ENST00000357632.2																			0				breast(1)|endometrium(4)|large_intestine(8)|lung(2)|ovary(2)|prostate(2)|skin(1)	20						c.(958-960)gtG>gtC		chemokine (C-C motif) receptor 9							110	102	105					3																	45943240		2203	4300	6503	SO:0001819	synonymous_variant	10803				cellular defense response|chemotaxis|elevation of cytosolic calcium ion concentration|immune response	integral to plasma membrane		g.chr3:45943240G>C	AJ132337	CCDS2732.1, CCDS2733.1	3p21.31	2012-09-20			ENSG00000173585	ENSG00000173585		"GPCR / Class A : Chemokine receptors : C-C motif", "CD molecules"	1610	protein-coding gene	gene with protein product		604738		GPR28		10229797	Standard	NM_006641		Approved	GPR-9-6, CDw199	uc003coz.2	P51686	OTTHUMG00000133450	ENST00000357632.2:c.960G>C	3.37:g.45943240G>C						CCR9_ENST00000422395.1_3'UTR|CCR9_ENST00000395963.2_Silent_p.V308V|CCR9_ENST00000355983.2_Silent_p.V308V|LZTFL1_ENST00000539217.1_Intron|LZTFL1_ENST00000536047.1_Intron	p.V320V	NM_001256369.1|NM_031200.2	NP_001243298.1|NP_112477.1	P51686	CCR9_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00118)|KIRC - Kidney renal clear cell carcinoma(197;0.0182)|Kidney(197;0.0214)	3	1140	+			320					Q4VBM3|Q549E0|Q9UQQ6	Silent	SNP	ENST00000357632.2	37	c.960G>C	CCDS2732.1																																																																																				0.517	CCR9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257323.2			20	44	0	0	0	1	0	20	44					C	45943240	G	C	45943240	2	2	182	1	0	0	0	0	0	0	0	1	2948	1335	47	5		5	CCR9	3	45943240	Silent	SNP	G	TCGA-G9-7509-01A-11D-A41K-08	24464705	45943240	152079190	11	8528											
CDKL2	8999	broad.mit.edu	37	chr4	76522237	76522237	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggattccttgtgtggtccaCgctgacattgctgcagtctt	5	15	11	10	1	1	1	0	1	1	0	3	2	3	2	2	2	2	3	2	2	0	4	rs142919399		TCGA-G9-7509-01A-11D-A41K-08	TCGA-G9-7509-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffdfc835-b6f2-4369-9f20-0c2b094020d0	38029fed-8935-4482-a4e6-d0be1258b2e0	g.chr4:76522237C>T	ENST00000429927.2	-	9	1907	c.1204G>A	c.(1204-1206)Gtg>Atg	p.V402M	CDKL2_ENST00000307465.4_Missense_Mutation_p.V402M	NM_003948.3	NP_003939.1	Q92772	CDKL2_HUMAN	cyclin-dependent kinase-like 2 (CDC2-related kinase)	402					sex differentiation (GO:0007548)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672)			breast(3)|endometrium(1)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(2)|stomach(2)	22			Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122)			GTGTGGTCCACGCTGACATTG	0.478													C|||	1	0.000199681	0	0	5008	,	,		17047	0.001		0	False		,,,				2504	0					ENST00000429927.2																			0				breast(3)|endometrium(1)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(2)|stomach(2)	22						c.(1204-1206)Gtg>Atg		cyclin-dependent kinase-like 2 (CDC2-related kinase)							274	241	252					4																	76522237		2203	4300	6503	SO:0001583	missense	8999				sex differentiation|signal transduction	cytoplasm|nucleus	ATP binding|cyclin-dependent protein kinase activity	g.chr4:76522237C>T	U35146	CCDS3570.1	4q21.21	2011-11-04			ENSG00000138769	ENSG00000138769		"Cyclin-dependent kinases"	1782	protein-coding gene	gene with protein product		603442				9000130	Standard	NM_003948		Approved	P56, KKIAMRE	uc003hiq.3	Q92772	OTTHUMG00000130103	ENST00000429927.2:c.1204G>A	4.37:g.76522237C>T	ENSP00000412365:p.Val402Met					CDKL2_ENST00000307465.4_Missense_Mutation_p.V402M	p.V402M	NM_003948.3	NP_003939.1	Q92772	CDKL2_HUMAN	Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122)		9	1907	-			402					B2R695	Missense_Mutation	SNP	ENST00000429927.2	37	c.1204G>A	CCDS3570.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	1.903	-0.452548	0.04540	.	.	ENSG00000138769	ENST00000429927;ENST00000307465	T;T	0.71341	0.79;-0.56	4.44	-2.68	0.06041	.	.	.	.	.	T	0.48352	0.1495	N	0.14661	0.345	0.09310	N	1	B;B	0.18166	0.005;0.026	B;B	0.11329	0.006;0.006	T	0.29181	-1.0020	9	0.49607	T	0.09	2.0E-4	7.0273	0.24946	0.0:0.2633:0.1323:0.6044	.	402;402	B4DH08;Q92772	.;CDKL2_HUMAN	M	402	ENSP00000412365:V402M;ENSP00000306340:V402M	ENSP00000306340:V402M	V	-	1	0	CDKL2	76741261	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	-1.103000	0.03329	-0.670000	0.05282	0.591000	0.81541	GTG		0.478	CDKL2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000252409.2	NM_003948		9	103	0	0	0	1	0	9	103					T	76522237	C	T	76522237	3	4	182	1	0	0	0	0	1	0	0	0	3154	536	19	1	289	1	CDKL2	4	76522237	Missense_Mutation	SNP	C	TCGA-G9-7509-01A-11D-A41K-08		76522237	114632039	12	8529											
BTN3A3	10384	broad.mit.edu	37	chr6	26452501	26452501	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagacaccactgaccccgggCttagctaatgaaagtgggga	12	6	13	10	1	0	3	0	2	0	1	0	5	0	4	3	3	1	2	3	3	3	2			TCGA-G9-7509-01A-11D-A41K-08	TCGA-G9-7509-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffdfc835-b6f2-4369-9f20-0c2b094020d0	38029fed-8935-4482-a4e6-d0be1258b2e0	g.chr6:26452501C>T	ENST00000244519.2	+	11	1860	c.1617C>T	c.(1615-1617)ggC>ggT	p.G539G	BTN3A3_ENST00000361232.3_Silent_p.G490G|BTN3A3_ENST00000339789.4_Silent_p.G497G	NM_006994.4	NP_008925.1	O00478	BT3A3_HUMAN	butyrophilin, subfamily 3, member A3	539					T cell mediated immunity (GO:0002456)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)				cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(15)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	30						TGACCCCGGGCTTAGCTAATG	0.547																																						ENST00000244519.2																			0				cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(15)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	30						c.(1615-1617)ggC>ggT		butyrophilin, subfamily 3, member A3							48	46	47					6																	26452501		2203	4300	6503	SO:0001819	synonymous_variant	10384					integral to membrane		g.chr6:26452501C>T	U90548	CCDS4611.1, CCDS4612.1, CCDS4612.2	6p22.1	2014-01-14			ENSG00000111801	ENSG00000111801		"Immunoglobulin superfamily / V-set domain containing", "Butyrophilins"	1140	protein-coding gene	gene with protein product		613595				10354554, 9149941	Standard	NM_006994		Approved	BTF3, BTN3.3	uc003nhz.3	O00478	OTTHUMG00000014451	ENST00000244519.2:c.1617C>T	6.37:g.26452501C>T						BTN3A3_ENST00000339789.4_Silent_p.G497G|BTN3A3_ENST00000361232.3_Silent_p.G490G	p.G539G	NM_006994.4	NP_008925.1	O00478	BT3A3_HUMAN			11	1860	+			539					B4DWI7|E9PCP5	Silent	SNP	ENST00000244519.2	37	c.1617C>T	CCDS4611.1																																																																																				0.547	BTN3A3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000040116.2	NM_006994		4	38	0	0	0	1	0	4	38					T	26452501	C	T	26452501	2	4	182	1	0	0	0	0	0	0	0	1	1564	784	28	3		3	BTN3A3	6	26452501	Silent	SNP	C	TCGA-G9-7509-01A-11D-A41K-08		26452501	144662566	13	8530											
CNR1	1268	broad.mit.edu	37	chr6	88854286	88854286	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atggtccacatcaggcaaaaCgccaccacggccttgggcct	10	6	10	15	2	1	0	1	0	0	0	2	0	2	0	5	4	1	1	5	4	2	1	rs577054667		TCGA-G9-7509-01A-11D-A41K-08	TCGA-G9-7509-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffdfc835-b6f2-4369-9f20-0c2b094020d0	38029fed-8935-4482-a4e6-d0be1258b2e0	g.chr6:88854286C>T	ENST00000537554.1	-	2	4270	c.708G>A	c.(706-708)gcG>gcA	p.A236A	CNR1_ENST00000468898.1_Silent_p.A203A|CNR1_ENST00000549716.1_Silent_p.A175A|CNR1_ENST00000362094.5_3'UTR|CNR1_ENST00000428600.2_Silent_p.A236A|CNR1_ENST00000549890.1_Silent_p.A236A|CNR1_ENST00000535130.1_Silent_p.A236A|CNR1_ENST00000369499.2_Silent_p.A236A|CNR1_ENST00000369501.2_Silent_p.A236A	NM_001160226.1|NM_001160258.1	NP_001153698.1|NP_001153730.1	P21554	CNR1_HUMAN	cannabinoid receptor 1 (brain)	236					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|aging (GO:0007568)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|glucose homeostasis (GO:0042593)|maternal process involved in female pregnancy (GO:0060135)|memory (GO:0007613)|negative regulation of action potential (GO:0045759)|negative regulation of blood pressure (GO:0045776)|negative regulation of dopamine secretion (GO:0033602)|negative regulation of fatty acid beta-oxidation (GO:0031999)|negative regulation of mast cell activation (GO:0033004)|negative regulation of nitric-oxide synthase activity (GO:0051001)|positive regulation of acute inflammatory response to antigenic stimulus (GO:0002866)|positive regulation of apoptotic process (GO:0043065)|positive regulation of blood pressure (GO:0045777)|positive regulation of fever generation (GO:0031622)|positive regulation of neuron projection development (GO:0010976)|regulation of feeding behavior (GO:0060259)|regulation of insulin secretion (GO:0050796)|regulation of penile erection (GO:0060405)|regulation of synaptic transmission, GABAergic (GO:0032228)|regulation of synaptic transmission, glutamatergic (GO:0051966)|response to cocaine (GO:0042220)|response to ethanol (GO:0045471)|response to lipopolysaccharide (GO:0032496)|response to morphine (GO:0043278)|response to nicotine (GO:0035094)|response to nutrient (GO:0007584)|sensory perception of pain (GO:0019233)|spermatogenesis (GO:0007283)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cannabinoid receptor activity (GO:0004949)|drug binding (GO:0008144)	p.A236A(2)		breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|prostate(1)|skin(10)|urinary_tract(1)	37		all_cancers(76;8.24e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;4.11e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.00011)		BRCA - Breast invasive adenocarcinoma(108;0.15)	Dronabinol(DB00470)|Nabilone(DB00486)|Rimonabant(DB06155)	TCAGGCAAAACGCCACCACGG	0.562													C|||	1	0.000199681	8e-04	0	5008	,	,		21363	0		0	False		,,,				2504	0					ENST00000537554.1																			2	Substitution - coding silent(2)	p.A236A(2)	large_intestine(1)|endometrium(1)	breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|prostate(1)|skin(10)|urinary_tract(1)	37						c.(706-708)gcG>gcA		cannabinoid receptor 1 (brain)	Marinol(DB00470)|Nabilone(DB00486)|Rimonabant(DB06155)						67	63	64					6																	88854286		2203	4300	6503	SO:0001819	synonymous_variant	0				G-protein signaling, coupled to cAMP nucleotide second messenger	integral to plasma membrane	cannabinoid receptor activity|protein binding	g.chr6:88854286C>T	AF107262	CCDS5015.1, CCDS5016.1, CCDS5016.2	6q14-q15	2012-08-08			ENSG00000118432	ENSG00000118432		"GPCR / Class A : Cannabinoid receptors"	2159	protein-coding gene	gene with protein product		114610		CNR			Standard	NM_016083		Approved	CB1K5, CB-R, CB1, CANN6, CB1A	uc003pmq.4	P21554	OTTHUMG00000015184	ENST00000537554.1:c.708G>A	6.37:g.88854286C>T						CNR1_ENST00000549890.1_Silent_p.A236A|CNR1_ENST00000468898.1_Silent_p.A203A|CNR1_ENST00000369501.2_Silent_p.A236A|CNR1_ENST00000362094.5_3'UTR|CNR1_ENST00000369499.2_Silent_p.A236A|CNR1_ENST00000535130.1_Silent_p.A236A|CNR1_ENST00000428600.2_Silent_p.A236A|CNR1_ENST00000549716.1_Silent_p.A175A	p.A236A	NM_001160226.1|NM_001160258.1	NP_001153698.1|NP_001153730.1	P21554	CNR1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.15)	2	4270	-		all_cancers(76;8.24e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;4.11e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.00011)	236					B2R9T4|E1P512|Q13949|Q495Z0|Q4PLI4|Q4VBM6|Q5JVL5|Q5UB37|Q9UNN0	Silent	SNP	ENST00000537554.1	37	c.708G>A	CCDS5015.1																																																																																				0.562	CNR1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354204.2			3	42	0	0	0	1	0	3	42					T	88854286	C	T	88854286	2	4	182	1	0	0	0	0	0	0	0	1	3631	523	19	1		1	CNR1	6	88854286	Silent	SNP	C	TCGA-G9-7509-01A-11D-A41K-08	62401785	88854286	82260781	14	8531											
GRM1	2911	broad.mit.edu	37	chr6	146625931	146625931	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcaacatcggttccagtgcCgccttccaggacaccttctg	7	9	10	15	2	1	0	0	0	1	0	4	1	3	1	5	3	2	2	5	3	1	3			TCGA-G9-7509-01A-11D-A41K-08	TCGA-G9-7509-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffdfc835-b6f2-4369-9f20-0c2b094020d0	38029fed-8935-4482-a4e6-d0be1258b2e0	g.chr6:146625931C>T	ENST00000282753.1	+	3	1370	c.1135C>T	c.(1135-1137)Cgc>Tgc	p.R379C	GRM1_ENST00000392299.2_Missense_Mutation_p.R379C|GRM1_ENST00000355289.4_Missense_Mutation_p.R379C|GRM1_ENST00000492807.2_Missense_Mutation_p.R379C|GRM1_ENST00000507907.1_Missense_Mutation_p.R379C|GRM1_ENST00000361719.2_Missense_Mutation_p.R379C			Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	379					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|cell death (GO:0008219)|cellular response to electrical stimulus (GO:0071257)|dimeric G-protein coupled receptor signaling pathway (GO:0038042)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|G-protein coupled receptor signaling pathway (GO:0007186)|locomotory behavior (GO:0007626)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of pain (GO:0019233)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|G-protein coupled receptor dimeric complex (GO:0038037)|G-protein coupled receptor homodimeric complex (GO:0038038)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)			NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)		GTTCCAGTGCCGCCTTCCAGG	0.458																																						ENST00000392299.2																			0				NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126						c.(1135-1137)Cgc>Tgc		glutamate receptor, metabotropic 1	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)						102	95	97					6																	146625931		2203	4300	6503	SO:0001583	missense	2911				synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	g.chr6:146625931C>T	U31215	CCDS5209.1, CCDS47497.1, CCDS64548.1	6q24	2014-06-12			ENSG00000152822	ENSG00000152822		"GPCR / Class C : Glutamate receptors, metabotropic", "Glutamate receptors"	4593	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 85"	604473				9076744, 9376535	Standard	NM_001278064		Approved	GPRC1A, mGlu1, MGLUR1, PPP1R85	uc010khw.2	Q13255	OTTHUMG00000015752	ENST00000282753.1:c.1135C>T	6.37:g.146625931C>T	ENSP00000282753:p.Arg379Cys					GRM1_ENST00000355289.4_Missense_Mutation_p.R379C|GRM1_ENST00000507907.1_Missense_Mutation_p.R379C|GRM1_ENST00000492807.2_Missense_Mutation_p.R379C|GRM1_ENST00000361719.2_Missense_Mutation_p.R379C|GRM1_ENST00000282753.1_Missense_Mutation_p.R379C	p.R379C			Q13255	GRM1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	4	1605	+		Ovarian(120;0.0387)	379					B9EG79|F8W805|Q13256|Q14757|Q14758|Q5VTF7|Q5VTF8|Q9NU10|Q9UGS9|Q9UGT0	Missense_Mutation	SNP	ENST00000282753.1	37	c.1135C>T	CCDS5209.1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.284871	0.80803	.	.	ENSG00000152822	ENST00000361719;ENST00000392299;ENST00000492807;ENST00000282753;ENST00000355289;ENST00000507907	D;D;D;D;D;D	0.86432	-2.12;-2.12;-2.12;-2.12;-2.12;-2.12	6.06	5.12	0.69794	Extracellular ligand-binding receptor (1);	0.000000	0.85682	D	0.000000	D	0.93058	0.7790	M	0.80616	2.505	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.77004	0.921;0.989;0.921	D	0.93069	0.6481	10	0.72032	D	0.01	.	18.1222	0.89576	0.1282:0.8718:0.0:0.0	.	379;379;379	F8W805;Q13255;Q13255-2	.;GRM1_HUMAN;.	C	379	ENSP00000354896:R379C;ENSP00000376119:R379C;ENSP00000424095:R379C;ENSP00000282753:R379C;ENSP00000347437:R379C;ENSP00000425599:R379C	ENSP00000282753:R379C	R	+	1	0	GRM1	146667624	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	3.834000	0.55798	2.880000	0.98712	0.650000	0.86243	CGC		0.458	GRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042574.1	NM_000838		14	36	0	0	0	1	0	14	36					T	146625931	C	T	146625931	3	4	182	1	0	0	0	0	1	0	0	0	6796	652	23	2	1145	2	GRM1	6	146625931	Missense_Mutation	SNP	C	TCGA-G9-7509-01A-11D-A41K-08	57771645	146625931	24489136	15	8532											
AASS	10157	broad.mit.edu	37	chr7	121726065	121726065	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	atctaaagtccagctgcttaCcttatatctcagtgtccccc	9	13	5	14	0	2	0	1	0	2	0	5	0	4	0	4	0	3	2	4	0	5	4			TCGA-G9-7509-01A-11D-A41K-08	TCGA-G9-7509-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffdfc835-b6f2-4369-9f20-0c2b094020d0	38029fed-8935-4482-a4e6-d0be1258b2e0	g.chr7:121726065C>A	ENST00000393376.1	-	18	2280		c.e18+1		AASS_ENST00000473553.1_Splice_Site|AASS_ENST00000417368.2_Splice_Site			Q9UDR5	AASS_HUMAN	aminoadipate-semialdehyde synthase						cellular nitrogen compound metabolic process (GO:0034641)|L-lysine catabolic process to acetyl-CoA via saccharopine (GO:0033512)|lysine catabolic process (GO:0006554)|protein tetramerization (GO:0051262)|small molecule metabolic process (GO:0044281)	intracellular membrane-bounded organelle (GO:0043231)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity (GO:0047131)|saccharopine dehydrogenase (NADP+, L-lysine-forming) activity (GO:0047130)			autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(6)|large_intestine(12)|lung(27)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	54						CAGCTGCTTACCTTATATCTC	0.368																																						ENST00000393376.1																			0				autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(6)|large_intestine(12)|lung(27)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	54						c.e18+1		aminoadipate-semialdehyde synthase	L-Glutamic Acid(DB00142)|NADH(DB00157)						89	82	84					7																	121726065		2203	4300	6503	SO:0001630	splice_region_variant	10157				protein tetramerization	mitochondrial matrix	binding|saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity|saccharopine dehydrogenase (NADP+, L-lysine-forming) activity	g.chr7:121726065C>A	AF229180	CCDS5783.1	7q31.3	2010-12-14			ENSG00000008311	ENSG00000008311			17366	protein-coding gene	gene with protein product		605113				10775527	Standard	NM_005763		Approved	LORSDH, LKRSDH	uc003vkb.3	Q9UDR5	OTTHUMG00000157058	ENST00000393376.1:c.2184+1G>T	7.37:g.121726065C>A						AASS_ENST00000417368.2_Splice_Site|AASS_ENST00000473553.1_Splice_Site				Q9UDR5	AASS_HUMAN			18	2280	-								O95462	Splice_Site	SNP	ENST00000393376.1	37		CCDS5783.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.294964	0.81025	.	.	ENSG00000008311	ENST00000393376;ENST00000417368	.	.	.	6.08	6.08	0.98989	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.2585	0.98435	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	AASS	121513301	1.000000	0.71417	1.000000	0.80357	0.859000	0.49053	7.425000	0.80255	2.894000	0.99253	0.655000	0.94253	.		0.368	AASS-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347300.1	NM_005763	Intron	17	69	1	0	4.96729e-08	1	5.42936e-08	17	69					A	121726065	C	A	121726065	5	1	182	1	0	0	0	0	0	0	1	0	24	521	18	5	619	5	AASS	7	121726065	Splice_Site	SNP	C	TCGA-G9-7509-01A-11D-A41K-08		121726065	37412598	16	8533											
TSGA13	114960	broad.mit.edu	37	chr7	130356540	130356540	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcatggactggagcaaaggTgagctgagggtacattttct	10	11	13	7	0	2	2	1	2	1	0	2	4	2	4	0	4	3	3	0	4	2	3			TCGA-G9-7509-01A-11D-A41K-08	TCGA-G9-7509-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffdfc835-b6f2-4369-9f20-0c2b094020d0	38029fed-8935-4482-a4e6-d0be1258b2e0	g.chr7:130356540T>C	ENST00000456951.1	-	8	1470	c.619A>G	c.(619-621)Acc>Gcc	p.T207A	TSGA13_ENST00000356588.3_Missense_Mutation_p.T207A|COPG2_ENST00000445977.2_5'Flank			Q96PP4	TSG13_HUMAN	testis specific, 13	207										endometrium(1)|kidney(3)|large_intestine(3)|lung(6)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	18	Melanoma(18;0.0435)					GGAGCAAAGGTGAGCTGAGGG	0.423																																						ENST00000456951.1																			0				endometrium(1)|kidney(3)|large_intestine(3)|lung(6)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	18						c.(619-621)Acc>Gcc		testis specific, 13							230	219	223					7																	130356540		2203	4300	6503	SO:0001583	missense	114960							g.chr7:130356540T>C	AK093329	CCDS5824.1	7q32	2008-02-04			ENSG00000213265	ENSG00000213265			12369	protein-coding gene	gene with protein product							Standard	NM_052933		Approved		uc003vqi.3	Q96PP4	OTTHUMG00000154999	ENST00000456951.1:c.619A>G	7.37:g.130356540T>C	ENSP00000406047:p.Thr207Ala					TSGA13_ENST00000356588.3_Missense_Mutation_p.T207A	p.T207A			Q96PP4	TSG13_HUMAN			8	1470	-	Melanoma(18;0.0435)		207					B3KSC9	Missense_Mutation	SNP	ENST00000456951.1	37	c.619A>G	CCDS5824.1	.	.	.	.	.	.	.	.	.	.	T	15.12	2.737749	0.49045	.	.	ENSG00000213265	ENST00000456951;ENST00000418126;ENST00000356588	.	.	.	5.57	1.34	0.21922	.	0.862072	0.09999	N	0.728688	T	0.20251	0.0487	N	0.24115	0.695	0.09310	N	1	B	0.16396	0.017	B	0.15052	0.012	T	0.20207	-1.0282	9	0.35671	T	0.21	-0.5736	2.3555	0.04294	0.1499:0.0868:0.1553:0.608	.	207	Q96PP4	TSG13_HUMAN	A	207	.	ENSP00000348996:T207A	T	-	1	0	TSGA13	130007080	0.910000	0.30920	0.859000	0.33776	0.886000	0.51366	0.810000	0.27183	0.934000	0.37316	0.454000	0.30748	ACC		0.423	TSGA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337997.1	NM_052933		25	115	0	0	0	1	0	25	115					C	130356540	T	C	130356540	3	2	182	1	0	0	0	0	1	0	0	0	16616	1696	59	4	216	4	TSGA13	7	130356540	Missense_Mutation	SNP	T	TCGA-G9-7509-01A-11D-A41K-08	8630475	130356540	28782123	17	8534											
MAMDC4	29085	broad.mit.edu	37	chr9	139748340	139748340	+	IGR	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gttggcagtgaccacaggccGcatccggggtgacttccgag	7	7	15	12	3	0	2	0	2	0	0	2	3	2	2	4	4	0	3	4	4	0	2	rs202129220	byFrequency	TCGA-G9-7509-01A-11D-A41K-08	TCGA-G9-7509-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffdfc835-b6f2-4369-9f20-0c2b094020d0	38029fed-8935-4482-a4e6-d0be1258b2e0	g.chr9:139748340G>A	ENST00000247665.10	+	0	890				MAMDC4_ENST00000445819.1_Missense_Mutation_p.R189H|MAMDC4_ENST00000317446.2_Missense_Mutation_p.R189H|MAMDC4_ENST00000485732.1_3'UTR	NM_014172.4	NP_054891.2	Q9NRX4	PHP14_HUMAN	phosphohistidine phosphatase 1						negative regulation of ATP citrate synthase activity (GO:2000984)|negative regulation of lyase activity (GO:0051350)|negative regulation of T cell receptor signaling pathway (GO:0050860)|peptidyl-histidine dephosphorylation (GO:0035971)|positive regulation of cell motility (GO:2000147)|positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0035774)|protein dephosphorylation (GO:0006470)|regulation of actin cytoskeleton reorganization (GO:2000249)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	calcium channel inhibitor activity (GO:0019855)|ion channel binding (GO:0044325)|phosphohistidine phosphatase activity (GO:0008969)|phosphoprotein phosphatase activity (GO:0004721)			NS(1)|large_intestine(1)|lung(1)	3	all_cancers(76;0.0763)|all_epithelial(76;0.198)	Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;1.52e-05)|Epithelial(140;0.000171)		ACCACAGGCCGCATCCGGGGT	0.662													G|||	3	0.000599042	0	0	5008	,	,		11243	0.003		0	False		,,,				2504	0					ENST00000445819.1																			0				breast(4)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	19						c.(565-567)cGc>cAc		MAM domain containing 4							34	37	36					9																	139748340		2195	4300	6495	SO:0001628	intergenic_variant	158056				protein transport	integral to membrane		g.chr9:139748340G>A	AF131857	CCDS7009.1, CCDS48060.1	9q34.3	2008-02-05			ENSG00000054148	ENSG00000054148	3.1.3.-		30033	protein-coding gene	gene with protein product	"phosphohistidine phosphatase 14kDa", " sex-regulated protein janus-a"	610167				11042152, 8619474	Standard	NM_014172		Approved	PHP14, HSPC141, CGI-202, DKFZp564M173, bA216L13.10	uc004cjq.4	Q9NRX4	OTTHUMG00000020950		9.37:g.139748340G>A						MAMDC4_ENST00000317446.2_Missense_Mutation_p.R189H|MAMDC4_ENST00000485732.1_3'UTR	p.R189H			Q6UXC1	AEGP_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.52e-05)|Epithelial(140;0.000171)	5	616	+	all_cancers(76;0.0763)|all_epithelial(76;0.198)	Myeloproliferative disorder(178;0.0511)	189			MAM 1.		B1AMX0|B1AMX1|Q9H0Y3	Missense_Mutation	SNP	ENST00000247665.10	37	c.566G>A	CCDS7009.1	2	9.157509157509158E-4	0	0.0	0	0.0	2	0.0034965034965034965	0	0.0	.	17.82	3.483370	0.63962	.	.	ENSG00000177943	ENST00000317446;ENST00000445819	T;T	0.02177	4.41;4.41	4.78	4.78	0.61160	.	0.000000	0.53938	D	0.000041	T	0.14917	0.0360	M	0.86573	2.825	0.45648	D	0.998574	D	0.89917	1.0	D	0.91635	0.999	T	0.01998	-1.1232	10	0.38643	T	0.18	-39.7801	16.3726	0.83370	0.0:0.0:1.0:0.0	.	189	Q6UXC1-2	.	H	189	ENSP00000319388:R189H;ENSP00000411339:R189H	ENSP00000319388:R189H	R	+	2	0	MAMDC4	138868161	1.000000	0.71417	0.836000	0.33094	0.162000	0.22319	4.106000	0.57804	2.207000	0.71202	0.561000	0.74099	CGC		0.662	PHPT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055150.1	NM_014172		3	55	0	0	0	1	0	3	55					A	139748340	G	A	139748340	1	1	182	0	1	0	0	0	0	0	0	0	9204	1087	38	1		1	MAMDC4	9	139748340	IGR	SNP	G	TCGA-G9-7509-01A-11D-A41K-08		139748340	1465091	18	8535											
PGBD3	267004	broad.mit.edu	37	chr10	50724106	50724106	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	caatactggtgaaaaagttaTtgaatacaaaatggtattgt	17	13	8	3	0	0	2	0	2	0	0	0	2	0	2	0	2	2	2	0	2	10	6			TCGA-G9-7509-01A-11D-A41K-08	TCGA-G9-7509-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffdfc835-b6f2-4369-9f20-0c2b094020d0	38029fed-8935-4482-a4e6-d0be1258b2e0	g.chr10:50724106T>C	ENST00000374127.3	-	2	1256	c.1055A>G	c.(1054-1056)aAt>aGt	p.N352S	ERCC6-PGBD3_ENST00000515869.1_Missense_Mutation_p.N820S|PGBD3_ENST00000508005.2_Missense_Mutation_p.N352S|ERCC6-PGBD3_ENST00000447839.2_Missense_Mutation_p.N820S|ERCC6_ENST00000355832.5_Intron|PGBD3_ENST00000603152.1_Missense_Mutation_p.N820S	NM_170753.2	NP_736609.2	Q8N328	PGBD3_HUMAN	piggyBac transposable element derived 3	352										breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|lung(16)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	33						GAAAAAGTTATTGAATACAAA	0.423																																						ENST00000515869.1																			0											c.(2458-2460)aAt>aGt									82	78	80					10																	50724106		2203	4298	6501	SO:0001583	missense	0							g.chr10:50724106T>C	AK074682	CCDS7230.1	10q11	2011-03-24			ENSG00000243251	ENSG00000243251			19400	protein-coding gene	gene with protein product							Standard	NM_170753		Approved	FLJ90201		Q8N328	OTTHUMG00000018193	ENST00000374127.3:c.1055A>G	10.37:g.50724106T>C	ENSP00000363242:p.Asn352Ser					PGBD3_ENST00000603152.1_Missense_Mutation_p.N820S|PGBD3_ENST00000508005.2_Missense_Mutation_p.N352S|ERCC6_ENST00000355832.5_Intron|ERCC6-PGBD3_ENST00000447839.2_Missense_Mutation_p.N820S|PGBD3_ENST00000374127.3_Missense_Mutation_p.N352S	p.N820S	NM_001277059.1	NP_001263988.1					6	2579	-								B3KQC4|Q5W0M0|Q6PIH0	Missense_Mutation	SNP	ENST00000374127.3	37	c.2459A>G	CCDS7230.1	.	.	.	.	.	.	.	.	.	.	T	13.83	2.355149	0.41700	.	.	ENSG00000243251;ENSG00000243251;ENSG00000258838;ENSG00000258838	ENST00000374127;ENST00000508005;ENST00000515869;ENST00000447839	T;T;T;T	0.16073	2.37;2.37;2.37;2.37	0.534	0.534	0.17127	.	.	.	.	.	T	0.10551	0.0258	N	0.24115	0.695	0.09310	N	1	B;B	0.31640	0.333;0.096	B;B	0.29862	0.101;0.108	T	0.28170	-1.0052	8	0.72032	D	0.01	-29.8861	.	.	.	.	820;352	E7EV46;Q8N328	.;PGBD3_HUMAN	S	352;352;820;820	ENSP00000363242:N352S;ENSP00000426963:N352S;ENSP00000423550:N820S;ENSP00000387966:N820S	ENSP00000387966:N820S	N	-	2	0	PGBD3;RP11-123B3.6	50394112	0.855000	0.29742	0.021000	0.16686	0.990000	0.78478	2.602000	0.46257	0.451000	0.26802	0.260000	0.18958	AAT		0.423	PGBD3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000047988.1			19	67	0	0	0	1	0	19	67					C	50724106	T	C	50724106	3	2	182	1	0	0	0	0	1	0	0	0	11782	1493	52	4	730	4	PGBD3	10	50724106	Missense_Mutation	SNP	T	TCGA-G9-7509-01A-11D-A41K-08		50724106	84810641	19	8536											
OR5F1	338674	broad.mit.edu	37	chr11	55761635	55761635	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catggcttgtgttgaccatgAagttcagcaaccctgcagca	10	10	10	11	0	1	2	1	2	0	0	1	2	1	2	2	1	4	6	2	1	2	3			TCGA-G9-7509-01A-11D-A41K-08	TCGA-G9-7509-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffdfc835-b6f2-4369-9f20-0c2b094020d0	38029fed-8935-4482-a4e6-d0be1258b2e0	g.chr11:55761635A>T	ENST00000278409.1	-	1	466	c.467T>A	c.(466-468)tTc>tAc	p.F156Y		NM_003697.1	NP_003688.1	O95221	OR5F1_HUMAN	olfactory receptor, family 5, subfamily F, member 1	156					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(6)|kidney(1)|large_intestine(11)|liver(1)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	58	Esophageal squamous(21;0.00448)					GTTGACCATGAAGTTCAGCAA	0.502																																						ENST00000278409.1																			0				endometrium(6)|kidney(1)|large_intestine(11)|liver(1)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	58						c.(466-468)tTc>tAc		olfactory receptor, family 5, subfamily F, member 1							57	55	56					11																	55761635		2201	4296	6497	SO:0001583	missense	338674				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55761635A>T	AF065863	CCDS31515.1	11q11	2012-08-09			ENSG00000149133	ENSG00000149133		"GPCR / Class A : Olfactory receptors"	8343	protein-coding gene	gene with protein product		608492				9787077	Standard	NM_003697		Approved	OR11-10	uc010riv.2	O95221	OTTHUMG00000166825	ENST00000278409.1:c.467T>A	11.37:g.55761635A>T	ENSP00000278409:p.Phe156Tyr						p.F156Y	NM_003697.1	NP_003688.1	O95221	OR5F1_HUMAN			1	466	-	Esophageal squamous(21;0.00448)		156					Q495D1|Q6IFB9	Missense_Mutation	SNP	ENST00000278409.1	37	c.467T>A	CCDS31515.1	.	.	.	.	.	.	.	.	.	.	G	7.425	0.637461	0.14386	.	.	ENSG00000149133	ENST00000278409	T	0.37058	1.22	2.96	0.724	0.18236	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.16557	0.0398	N	0.05230	-0.09	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.20438	-1.0275	9	0.87932	D	0	.	4.8112	0.13344	0.2374:0.3134:0.4492:0.0	.	156	O95221	OR5F1_HUMAN	Y	156	ENSP00000278409:F156Y	ENSP00000278409:F156Y	F	-	2	0	OR5F1	55518211	0.001000	0.12720	0.974000	0.42286	0.063000	0.16089	1.071000	0.30666	0.379000	0.24794	-1.091000	0.02175	TTC		0.502	OR5F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391532.1	NM_003697		7	64	0	0	0	1	0	7	64					T	55761635	A	T	55761635	3	4	182	1	0	0	0	0	1	0	0	0	11158	246	9	5	480	5	OR5F1	11	55761635	Missense_Mutation	SNP	A	TCGA-G9-7509-01A-11D-A41K-08		55761635	79244881	20	8537											
FAT3	120114	broad.mit.edu	37	chr11	92495335	92495335	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aggcagttatgacatcctaaCggtaagatcttccaaactcc	13	10	7	11	1	1	2	0	1	1	1	4	2	4	2	3	2	2	3	3	2	4	4			TCGA-G9-7509-01A-11D-A41K-08	TCGA-G9-7509-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffdfc835-b6f2-4369-9f20-0c2b094020d0	38029fed-8935-4482-a4e6-d0be1258b2e0	g.chr11:92495335C>T	ENST00000298047.6	+	4	4000	c.3983C>T	c.(3982-3984)aCg>aTg	p.T1328M	FAT3_ENST00000525166.1_Splice_Site_p.T1178M|FAT3_ENST00000409404.2_Splice_Site_p.T1328M|RP11-203F8.1_ENST00000529884.1_RNA			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	1328	Cadherin 12. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				GACATCCTAACGGTAAGATCT	0.398										TCGA Ovarian(4;0.039)																												ENST00000298047.6																			0				NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85						c.e4+1		FAT atypical cadherin 3							59	57	58					11																	92495335		1891	4120	6011	SO:0001630	splice_region_variant	120114				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr11:92495335C>T	AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"Cadherins / Cadherin-related"	23112	protein-coding gene	gene with protein product	"cadherin-related family member 10"	612483	"FAT tumor suppressor homolog 3 (Drosophila)"			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.3984+1C>T	11.37:g.92495335C>T		TCGA Ovarian(4;0.039)				RP11-203F8.1_ENST00000529884.1_RNA|FAT3_ENST00000409404.2_Splice_Site_p.T1328_splice|FAT3_ENST00000525166.1_Splice_Site_p.T1178_splice	p.T1328_splice			Q8TDW7	FAT3_HUMAN			4	4000	+		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)	1328			Cadherin 12.		B5MDB0|Q96AU6	Splice_Site	SNP	ENST00000298047.6	37	c.3984_splice		.	.	.	.	.	.	.	.	.	.	C	25.9	4.688225	0.88639	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000525166	T;T;T	0.56611	0.45;0.45;0.45	5.58	5.58	0.84498	.	.	.	.	.	T	0.76586	0.4008	M	0.84219	2.685	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.79351	-0.1839	9	0.72032	D	0.01	.	19.5733	0.95430	0.0:1.0:0.0:0.0	.	1328	Q8TDW7-3	.	M	1328;1328;1178	ENSP00000298047:T1328M;ENSP00000387040:T1328M;ENSP00000432586:T1178M	ENSP00000298047:T1328M	T	+	2	0	FAT3	92134983	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.755000	0.85180	2.618000	0.88619	0.563000	0.77884	ACG		0.398	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781	Missense_Mutation	3	28	0	0	0	1	0	3	28					T	92495335	C	T	92495335	5	4	182	1	0	0	0	0	0	0	1	0	5691	550	19	1	3997	1	FAT3	11	92495335	Splice_Site	SNP	C	TCGA-G9-7509-01A-11D-A41K-08	36733700	92495335	42511181	21	8538											
IQSEC3	440073	broad.mit.edu	37	chr12	248285	248285	+	Frame_Shift_Del	DEL	G	G	-																															agacggcggaggtggggagaGgggccgaggccgaggcaggc																										TCGA-G9-7509-01A-11D-A41K-08	TCGA-G9-7509-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffdfc835-b6f2-4369-9f20-0c2b094020d0	38029fed-8935-4482-a4e6-d0be1258b2e0	g.chr12:248285delG	ENST00000538872.1	+	4	1874	c.1756delG	c.(1756-1758)gggfs	p.G586fs	IQSEC3_ENST00000382841.2_Frame_Shift_Del_p.G283fs|RP11-598F7.4_ENST00000505893.2_RNA|IQSEC3_ENST00000326261.4_Frame_Shift_Del_p.G586fs|RP11-598F7.4_ENST00000508953.2_RNA			Q9UPP2	IQEC3_HUMAN	IQ motif and Sec7 domain 3	586					actin cytoskeleton organization (GO:0030036)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|inhibitory synapse (GO:0060077)|postsynaptic membrane (GO:0045211)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(10;0.016)|all_lung(10;0.0222)|all_epithelial(11;0.0262)|Lung NSC(10;0.031)		OV - Ovarian serous cystadenocarcinoma(31;0.00456)	LUAD - Lung adenocarcinoma(1;0.172)|Lung(1;0.179)		ggTGGGGAGAGGGGCCGAGGC	0.692																																						ENST00000538872.1																			0				central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						c.(1756-1758)ggfs		IQ motif and Sec7 domain 3							5	7	6					12																	248285		2099	4097	6196	SO:0001589	frameshift_variant	440073				regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity	g.chr12:248285delG	AB029033	CCDS31725.1, CCDS53728.1	12p13.33	2014-03-18			ENSG00000120645	ENSG00000120645			29193	protein-coding gene	gene with protein product		612118				10470851	Standard	NM_001170738		Approved	KIAA1110, MGC30156	uc001qhw.2	Q9UPP2	OTTHUMG00000167975	ENST00000538872.1:c.1756delG	12.37:g.248285delG	ENSP00000437554:p.Gly586fs					IQSEC3_ENST00000326261.4_Frame_Shift_Del_p.G586fs|RP11-598F7.4_ENST00000505893.2_RNA|IQSEC3_ENST00000382841.2_Frame_Shift_Del_p.G283fs	p.G586fs			Q9UPP2	IQEC3_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00456)	LUAD - Lung adenocarcinoma(1;0.172)|Lung(1;0.179)	4	1874	+	all_cancers(10;0.016)|all_lung(10;0.0222)|all_epithelial(11;0.0262)|Lung NSC(10;0.031)		586					A6NIF2|A6NKV9|Q8TB43	Frame_Shift_Del	DEL	ENST00000538872.1	37	c.1756delG	CCDS53728.1																																																																																				0.692	IQSEC3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397382.3	XM_495902		2	4						2	4	---	---	---	---	-	248285	G	-	248285	7	5	182	1	0	1	0	1	0	0	0	0	7819	1000	35	0	1770	0	IQSEC3	12	248285	Frame_Shift_Del	DEL	G	TCGA-G9-7509-01A-11D-A41K-08		248285	133603610	22	8539											
SPERT	220082	broad.mit.edu	37	chr13	46287491	46287491	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agcgccccatgtcccaggccGacctggagctggactacaac	9	5	11	16	2	0	0	0	0	0	0	1	3	1	2	5	3	4	1	5	3	2	1	rs534915627		TCGA-G9-7509-01A-11D-A41K-08	TCGA-G9-7509-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffdfc835-b6f2-4369-9f20-0c2b094020d0	38029fed-8935-4482-a4e6-d0be1258b2e0	g.chr13:46287491G>A	ENST00000310521.1	+	3	411	c.331G>A	c.(331-333)Gac>Aac	p.D111N	SPERT_ENST00000378966.3_Missense_Mutation_p.D75N	NM_152719.1	NP_689932.1	Q8NA61	SPERT_HUMAN	spermatid associated	111						cytoplasmic membrane-bounded vesicle (GO:0016023)				NS(1)|central_nervous_system(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	15		Breast(56;0.000819)|Lung NSC(96;0.00227)|Prostate(109;0.00703)|Lung SC(185;0.0367)|Hepatocellular(98;0.0556)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;7.26e-05)		GTCCCAGGCCGACCTGGAGCT	0.652													G|||	1	0.000199681	0	0	5008	,	,		16710	0		0	False		,,,				2504	0.001					ENST00000378966.3																			0				NS(1)|central_nervous_system(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	15						c.(223-225)Gac>Aac		spermatid associated							62	66	65					13																	46287491		2203	4300	6503	SO:0001583	missense	220082					cytoplasmic membrane-bounded vesicle		g.chr13:46287491G>A	AK093129	CCDS9399.1, CCDS66540.1	13q14.13	2010-03-23			ENSG00000174015	ENSG00000174015			30720	protein-coding gene	gene with protein product	"spermatid flower-like structure protein", "testis specific leucine zipper protein nurit", "chibby homolog 2 (Drosophila)"					12204287, 20096028	Standard	NM_001286341		Approved	NURIT, CBY2	uc001van.1	Q8NA61	OTTHUMG00000016861	ENST00000310521.1:c.331G>A	13.37:g.46287491G>A	ENSP00000309189:p.Asp111Asn					SPERT_ENST00000310521.1_Missense_Mutation_p.D111N	p.D75N			Q8NA61	SPERT_HUMAN	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;7.26e-05)	2	639	+		Breast(56;0.000819)|Lung NSC(96;0.00227)|Prostate(109;0.00703)|Lung SC(185;0.0367)|Hepatocellular(98;0.0556)	111					A8K8I5|Q8NHV2	Missense_Mutation	SNP	ENST00000310521.1	37	c.223G>A	CCDS9399.1	.	.	.	.	.	.	.	.	.	.	G	20.1	3.932798	0.73442	.	.	ENSG00000174015	ENST00000310521;ENST00000533564;ENST00000378966	T;T	0.51574	0.7;0.7	4.97	4.97	0.65823	.	0.133715	0.34338	N	0.004055	T	0.54334	0.1852	L	0.36672	1.1	0.34380	D	0.692962	D;D	0.76494	0.998;0.999	P;P	0.60236	0.871;0.871	T	0.66681	-0.5862	10	0.72032	D	0.01	.	13.6108	0.62076	0.0:0.0:1.0:0.0	.	75;111	Q8NA61-2;Q8NA61	.;SPERT_HUMAN	N	111;84;75	ENSP00000309189:D111N;ENSP00000368249:D75N	ENSP00000309189:D111N	D	+	1	0	SPERT	45185492	1.000000	0.71417	0.989000	0.46669	0.889000	0.51656	4.410000	0.59774	2.584000	0.87258	0.557000	0.71058	GAC		0.652	SPERT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044786.2	NM_152719		6	46	0	0	0	1	0	6	46					A	46287491	G	A	46287491	3	1	182	1	0	0	0	0	1	0	0	0	15038	1058	37	2	341	2	SPERT	13	46287491	Missense_Mutation	SNP	G	TCGA-G9-7509-01A-11D-A41K-08		46287491	68882387	23	8540											
SERPINA4	5267	broad.mit.edu	37	chr14	95030303	95030303	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctgaatgacaccatggccGtctatgaggctaaactcttc	10	11	8	12	1	2	3	0	3	2	0	4	3	3	3	3	2	1	1	3	2	4	3	rs373176783		TCGA-G9-7509-01A-11D-A41K-08	TCGA-G9-7509-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffdfc835-b6f2-4369-9f20-0c2b094020d0	38029fed-8935-4482-a4e6-d0be1258b2e0	g.chr14:95030303G>A	ENST00000557004.1	+	2	905	c.484G>A	c.(484-486)Gtc>Atc	p.V162I	SERPINA4_ENST00000298841.5_Missense_Mutation_p.V162I|SERPINA4_ENST00000555095.1_Missense_Mutation_p.V162I|SERPINA5_ENST00000553780.1_Intron			P29622	KAIN_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 4	162					negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(28)|ovary(3)|skin(1)|urinary_tract(1)	46				COAD - Colon adenocarcinoma(157;0.211)		CACCATGGCCGTCTATGAGGC	0.522																																						ENST00000557004.1																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(28)|ovary(3)|skin(1)|urinary_tract(1)	46						c.(484-486)Gtc>Atc		serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 4		G	ILE/VAL	1,4405	2.1+/-5.4	0,1,2202	164	147	153		484	-2.2	0	14		153	0,8600		0,0,4300	no	missense	SERPINA4	NM_006215.2	29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	162/428	95030303	1,13005	2203	4300	6503	SO:0001583	missense	5267				regulation of proteolysis	extracellular space	serine-type endopeptidase inhibitor activity	g.chr14:95030303G>A	L19684	CCDS9927.1	14q32.13	2014-02-18	2005-08-18		ENSG00000100665	ENSG00000100665		"Serine (or cysteine) peptidase inhibitors"	8948	protein-coding gene	gene with protein product		147935	"serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 4"	PI4		8227002, 24172014	Standard	NM_001289032		Approved	KST, KAL, KLST, kallistatin	uc001ydk.3	P29622	OTTHUMG00000170859	ENST00000557004.1:c.484G>A	14.37:g.95030303G>A	ENSP00000450838:p.Val162Ile					SERPINA4_ENST00000555095.1_Missense_Mutation_p.V162I|SERPINA4_ENST00000298841.5_Missense_Mutation_p.V162I|SERPINA5_ENST00000553780.1_Intron	p.V162I			P29622	KAIN_HUMAN		COAD - Colon adenocarcinoma(157;0.211)	2	905	+			162					Q53XB5|Q86TR9|Q96BZ5	Missense_Mutation	SNP	ENST00000557004.1	37	c.484G>A	CCDS9927.1	.	.	.	.	.	.	.	.	.	.	G	12.61	1.990768	0.35131	2.27E-4	0.0	ENSG00000100665	ENST00000557004;ENST00000555095;ENST00000298841	D;D;D	0.84660	-1.88;-1.88;-1.88	4.51	-2.23	0.06930	Serpin domain (3);	0.630534	0.14619	N	0.308553	T	0.69424	0.3109	N	0.24115	0.695	0.09310	N	0.999991	P;B	0.34629	0.46;0.319	B;B	0.32805	0.153;0.078	T	0.61332	-0.7084	10	0.62326	D	0.03	.	5.2934	0.15739	0.0:0.2332:0.2608:0.506	.	162;162	B2R815;P29622	.;KAIN_HUMAN	I	162	ENSP00000450838:V162I;ENSP00000451172:V162I;ENSP00000298841:V162I	ENSP00000298841:V162I	V	+	1	0	SERPINA4	94100056	0.000000	0.05858	0.024000	0.17045	0.015000	0.08874	-0.507000	0.06352	-0.044000	0.13491	-0.264000	0.10439	GTC		0.522	SERPINA4-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410718.1	NM_006215		46	94	0	0	0	1	0	46	94					A	95030303	G	A	95030303	3	1	182	1	0	0	0	0	1	0	0	0	14091	1145	40	1	486	1	SERPINA4	14	95030303	Missense_Mutation	SNP	G	TCGA-G9-7509-01A-11D-A41K-08		95030303	12319237	24	8541											
ITGAD	3681	broad.mit.edu	37	chr16	31414872	31414872	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agatccacttcaccttcaccCaattccggaccagcccgagc	10	7	6	18	2	2	1	2	0	0	1	4	3	4	2	6	1	2	0	6	1	1	3			TCGA-G9-7509-01A-11D-A41K-08	TCGA-G9-7509-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffdfc835-b6f2-4369-9f20-0c2b094020d0	38029fed-8935-4482-a4e6-d0be1258b2e0	g.chr16:31414872C>T	ENST00000389202.2	+	7	659	c.610C>T	c.(610-612)Caa>Taa	p.Q204*	RP11-120K18.2_ENST00000567545.1_RNA	NM_005353.2	NP_005344.2	Q13349	ITAD_HUMAN	integrin, alpha D	204	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				activated T cell proliferation (GO:0050798)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|immune response (GO:0006955)|integrin-mediated signaling pathway (GO:0007229)	cell surface (GO:0009986)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						CACCTTCACCCAATTCCGGAC	0.577																																						ENST00000389202.2																			0				breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						c.(610-612)Caa>Taa		integrin, alpha D							111	89	96					16																	31414872		2197	4300	6497	SO:0001587	stop_gained	3681				cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway	integrin complex	receptor activity	g.chr16:31414872C>T	U40274	CCDS32438.1	16p13.1-p11	2010-03-23				ENSG00000156886		"CD molecules", "Integrins"	6146	protein-coding gene	gene with protein product		602453				8666289, 9598326	Standard	NM_005353		Approved	CD11d, ADB2	uc002ebv.1	Q13349		ENST00000389202.2:c.610C>T	16.37:g.31414872C>T	ENSP00000373854:p.Gln204*					RP11-120K18.2_ENST00000567545.1_RNA	p.Q204*	NM_005353.2	NP_005344.2	Q13349	ITAD_HUMAN			7	659	+			204			VWFA.		Q15575|Q15576	Nonsense_Mutation	SNP	ENST00000389202.2	37	c.610C>T	CCDS32438.1	.	.	.	.	.	.	.	.	.	.	C	14.39	2.519937	0.44866	.	.	ENSG00000156886	ENST00000316569;ENST00000444228;ENST00000389202	.	.	.	4.69	-9.39	0.00619	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.32370	T	0.25	.	9.1545	0.36985	0.3802:0.4272:0.1926:0.0	.	.	.	.	X	68;220;204	.	ENSP00000323325:Q68X	Q	+	1	0	ITGAD	31322373	0.000000	0.05858	0.000000	0.03702	0.148000	0.21650	-3.729000	0.00381	-3.416000	0.00167	-0.463000	0.05309	CAA		0.577	ITGAD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432836.1	NM_005353		6	68	0	0	0	1	0	6	68					T	31414872	C	T	31414872	4	4	182	1	0	0	0	0	0	1	0	0	7884	595	21	3	636	3	ITGAD	16	31414872	Nonsense_Mutation	SNP	C	TCGA-G9-7509-01A-11D-A41K-08		31414872	58939881	25	8542											
MYH4	4622	broad.mit.edu	37	chr17	10352207	10352218	+	In_Frame_Del	DEL	CGAGAGCTATGC	CGAGAGCTATGC	-																															aaagtttctttgcttcttatCgagagctatgcaggcagcat																								rs199631660		TCGA-G9-7509-01A-11D-A41K-08	TCGA-G9-7509-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffdfc835-b6f2-4369-9f20-0c2b094020d0	38029fed-8935-4482-a4e6-d0be1258b2e0	g.chr17:10352207_10352218delCGAGAGCTATGC	ENST00000255381.2	-	31	4438_4449	c.4328_4339delGCATAGCTCTCG	c.(4327-4341)tgcatagctctcgat>tat	p.1443_1447CIALD>Y	RP11-799N11.1_ENST00000399342.2_RNA|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	1443					actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|membrane organization (GO:0061024)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|response to activity (GO:0014823)	muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|microfilament motor activity (GO:0000146)	p.D1447N(1)		NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						TGCTTCTTATCGAGAGCTATGCAGGCAGCATT	0.429																																						ENST00000255381.2																			1	Substitution - Missense(1)	p.D1447N(1)	NS(1)	NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						c.(4327-4341)tat>t		myosin, heavy chain 4, skeletal muscle																																				SO:0001651	inframe_deletion	4622				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr17:10352207_10352218delCGAGAGCTATGC		CCDS11154.1	17p13.1	2013-09-19	2006-09-29		ENSG00000264424	ENSG00000264424		"Myosins / Myosin superfamily : Class II"	7574	protein-coding gene	gene with protein product		160742	"myosin, heavy polypeptide 4, skeletal muscle"			8518795	Standard	NM_017533		Approved	MYH2B, MyHC-2B, MyHC-IIb	uc002gmn.3	Q9Y623	OTTHUMG00000130365	ENST00000255381.2:c.4328_4339delGCATAGCTCTCG	17.37:g.10352207_10352218delCGAGAGCTATGC	ENSP00000255381:p.Cys1443_Asp1447delinsTyr					CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA	p.CIALD1443del	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN			31	4438_4449	-			1443						In_Frame_Del	DEL	ENST00000255381.2	37	c.4328_4339delGCATAGCTCTCG	CCDS11154.1																																																																																				0.429	MYH4-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252731.1	NM_017533		10	65						10	65	---	---	---	---	-	10352218	CGAGAGCTATGC	-	10352207	7	5	182	1	0	1	0	1	0	0	0	0	10037	884	31	0	1520	0	MYH4	17	10352207	In_Frame_Del	DEL	CGAGAGCTATGC	TCGA-G9-7509-01A-11D-A41K-08		10352207	70843003	26	8543											
KRT36	8689	broad.mit.edu	37	chr17	39643395	39643395	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gctgtagcgggcctcggtttCggccagggtggattccaagg	5	9	17	10	3	0	0	0	0	0	0	3	1	1	1	3	6	1	3	3	6	2	3			TCGA-G9-7509-01A-11D-A41K-08	TCGA-G9-7509-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffdfc835-b6f2-4369-9f20-0c2b094020d0	38029fed-8935-4482-a4e6-d0be1258b2e0	g.chr17:39643395C>T	ENST00000328119.6	-	6	1014	c.1015G>A	c.(1015-1017)Gaa>Aaa	p.E339K	KRT36_ENST00000393986.2_Missense_Mutation_p.E289K	NM_003771.4	NP_003762.1	O76013	KRT36_HUMAN	keratin 36	339	Coil 2.|Rod.				regulation of keratinocyte differentiation (GO:0045616)	extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural constituent of epidermis (GO:0030280)			breast(2)|cervix(1)|kidney(2)|large_intestine(3)|lung(8)|skin(1)	17		Breast(137;0.000286)				GCCTCGGTTTCGGCCAGGGTG	0.622																																						ENST00000393986.2																			0				breast(2)|cervix(1)|kidney(2)|large_intestine(3)|lung(8)|skin(1)	17						c.(865-867)Gaa>Aaa		keratin 36							60	64	62					17																	39643395		2203	4300	6503	SO:0001583	missense	8689					intermediate filament	protein binding|structural constituent of epidermis	g.chr17:39643395C>T	Y16792	CCDS11395.1	17q21.2	2013-06-20	2006-07-17	2006-07-17	ENSG00000126337	ENSG00000126337		"-", "Intermediate filaments type I, keratins (acidic)"	6454	protein-coding gene	gene with protein product		604540	"keratin, hair, acidic, 6"	KRTHA6		9756910, 16831889	Standard	XM_005257762		Approved		uc002hwt.3	O76013	OTTHUMG00000133431	ENST00000328119.6:c.1015G>A	17.37:g.39643395C>T	ENSP00000329165:p.Glu339Lys					KRT36_ENST00000328119.6_Missense_Mutation_p.E339K	p.E289K			O76013	KRT36_HUMAN			7	1077	-		Breast(137;0.000286)	339			Coil 2.|Rod.		Q86XG4	Missense_Mutation	SNP	ENST00000328119.6	37	c.865G>A	CCDS11395.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.174731	0.78452	.	.	ENSG00000126337	ENST00000393986;ENST00000328119	D;D	0.93247	-3.19;-3.19	6.07	6.07	0.98685	Filament (1);	0.000000	0.51477	D	0.000099	D	0.98140	0.9386	H	0.97051	3.93	0.45567	D	0.998512	D	0.89917	1.0	D	0.80764	0.994	D	0.98483	1.0606	10	0.87932	D	0	.	20.6439	0.99570	0.0:1.0:0.0:0.0	.	339	O76013	KRT36_HUMAN	K	289;339	ENSP00000377555:E289K;ENSP00000329165:E339K	ENSP00000329165:E339K	E	-	1	0	KRT36	36896921	1.000000	0.71417	0.965000	0.40720	0.143000	0.21401	7.677000	0.84024	2.884000	0.98904	0.655000	0.94253	GAA		0.622	KRT36-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259508.1	NM_003771		9	85	0	0	0	1	0	9	85					T	39643395	C	T	39643395	3	4	182	1	0	0	0	0	1	0	0	0	8473	893	31	2	396	2	KRT36	17	39643395	Missense_Mutation	SNP	C	TCGA-G9-7509-01A-11D-A41K-08	29291188	39643395	41551815	27	8544											
ANKRD40	91369	broad.mit.edu	37	chr17	48777244	48777244	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcatcatcatcatcatcatcTtcttcttccacttaaaaaga	13	15	1	12	0	9	1	6	0	3	1	10	1	10	1	1	0	0	0	1	0	3	4	rs199734034		TCGA-G9-7509-01A-11D-A41K-08	TCGA-G9-7509-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffdfc835-b6f2-4369-9f20-0c2b094020d0	38029fed-8935-4482-a4e6-d0be1258b2e0	g.chr17:48777244T>A	ENST00000285243.6	-	3	563	c.294A>T	c.(292-294)gaA>gaT	p.E98D		NM_052855.3	NP_443087.1	Q6AI12	ANR40_HUMAN	ankyrin repeat domain 40	98										breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|skin(1)|urinary_tract(1)	11			BRCA - Breast invasive adenocarcinoma(22;2.03e-09)			catcatcatcTTCTTCTTCCA	0.398																																						ENST00000285243.6																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|skin(1)|urinary_tract(1)	11						c.(292-294)gaA>gaT		ankyrin repeat domain 40							29	26	27					17																	48777244		2203	4300	6503	SO:0001583	missense	91369							g.chr17:48777244T>A	BC012978	CCDS11572.1	17q21.33	2013-01-10			ENSG00000154945	ENSG00000154945		"Ankyrin repeat domain containing"	28233	protein-coding gene	gene with protein product						12477932	Standard	NM_052855		Approved	MGC15396	uc002iso.3	Q6AI12	OTTHUMG00000162255	ENST00000285243.6:c.294A>T	17.37:g.48777244T>A	ENSP00000285243:p.Glu98Asp						p.E98D	NM_052855.3	NP_443087.1	Q6AI12	ANR40_HUMAN	BRCA - Breast invasive adenocarcinoma(22;2.03e-09)		3	563	-			98					Q96E32	Missense_Mutation	SNP	ENST00000285243.6	37	c.294A>T	CCDS11572.1	.	.	.	.	.	.	.	.	.	.	t	7.567	0.666021	0.14710	.	.	ENSG00000154945	ENST00000285243	T	0.24151	1.87	.	.	.	Ankyrin repeat-containing domain (1);	0.409721	0.13474	U	0.385212	T	0.11879	0.0289	N	0.22421	0.69	0.30827	N	0.737128	B	0.29646	0.253	B	0.20384	0.029	T	0.35276	-0.9795	8	0.12103	T	0.63	.	.	.	.	.	98	Q6AI12	ANR40_HUMAN	D	98	ENSP00000285243:E98D	ENSP00000285243:E98D	E	-	3	2	ANKRD40	46132243	0.034000	0.19679	0.742000	0.31022	0.933000	0.57130	0.056000	0.14256	0.056000	0.16144	0.055000	0.15244	GAA		0.398	ANKRD40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368201.2	NM_052855		4	15	0	0	0	1	0	4	15					A	48777244	T	A	48777244	3	1	182	1	0	0	0	0	1	0	0	0	669	1606	56	5	824	5	ANKRD40	17	48777244	Missense_Mutation	SNP	T	TCGA-G9-7509-01A-11D-A41K-08	9133849	48777244	32417966	28	8545											
LONP1	25873	broad.mit.edu	37	chr19	5692212	5692213	+	IGR	INS	-	-	AA																															gatgcacgtcacccctgcgcINSgcttggcctgggggcagagt																								rs112807920	byFrequency	TCGA-G9-7509-01A-11D-A41K-08	TCGA-G9-7509-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffdfc835-b6f2-4369-9f20-0c2b094020d0	38029fed-8935-4482-a4e6-d0be1258b2e0	g.chr19:5692212_5692213insAA	ENST00000577222.1	+	0	874				LONP1_ENST00000593119.1_Frame_Shift_Ins_p.R840fs|LONP1_ENST00000540670.2_Frame_Shift_Ins_p.R708fs|LONP1_ENST00000590729.1_Frame_Shift_Ins_p.R774fs|LONP1_ENST00000585374.1_Frame_Shift_Ins_p.R790fs|LONP1_ENST00000360614.3_Frame_Shift_Ins_p.R904fs			Q9Y3U8	RL36_HUMAN	ribosomal protein L36						cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|membrane (GO:0016020)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			breast(1)|upper_aerodigestive_tract(1)	2						CACCCCTGCGCGCTTGGCCTGG	0.649																																						ENST00000360614.3																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						c.(2710-2712)cgcfs		lon peptidase 1, mitochondrial																																				SO:0001628	intergenic_variant	9361				cellular chaperone-mediated protein complex assembly|cellular response to oxidative stress|misfolded or incompletely synthesized protein catabolic process|mitochondrial DNA metabolic process|oxidation-dependent protein catabolic process|protein homooligomerization|response to hypoxia	mitochondrial nucleoid	ADP binding|ATP binding|ATP-dependent peptidase activity|DNA polymerase binding|G-quadruplex DNA binding|mitochondrial heavy strand promoter anti-sense binding|mitochondrial light strand promoter anti-sense binding|sequence-specific DNA binding|serine-type endopeptidase activity|single-stranded DNA binding|single-stranded RNA binding	g.chr19:5692212_5692213insAA		CCDS12147.1	19p13.2	2011-04-06				ENSG00000130255		"L ribosomal proteins"	13631	protein-coding gene	gene with protein product							Standard	NM_033643		Approved	DKFZp566B023, L36	uc002mcv.3	Q9Y3U8			19.37:g.5692212_5692213insAA						LONP1_ENST00000590729.1_Frame_Shift_Ins_p.R774fs|LONP1_ENST00000540670.2_Frame_Shift_Ins_p.R708fs|LONP1_ENST00000585374.1_Frame_Shift_Ins_p.R790fs|LONP1_ENST00000593119.1_Frame_Shift_Ins_p.R840fs	p.R904fs	NM_004793.2	NP_004784.2	P36776	LONM_HUMAN			18	2867_2868	-			904					B2R4Y1|D6W634|Q6FIG1|Q9UQF6	Frame_Shift_Ins	INS	ENST00000577222.1	37	c.2710_2711insTT	CCDS12147.1																																																																																				0.649	RPL36-001	KNOWN	alternative_5_UTR|overlapping_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442561.1	NM_015414		8	120						8	120	---	---	---	---	AA	5692213	-	AA	5692212	6	5	182	0	1	1	1	0	0	0	0	0	8892	768	27	0		0	LONP1	19	5692212	IGR	INS	-	TCGA-G9-7509-01A-11D-A41K-08		5692212	53436771	29	8546											
TMEM146	257062	broad.mit.edu	37	chr19	5770982	5770982	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tacgaccccggcttccagggGcagcagtcctccgaggacct	7	6	12	16	3	0	0	0	0	0	0	3	3	3	1	6	4	2	3	6	4	1	2			TCGA-G9-7509-01A-11D-A41K-08	TCGA-G9-7509-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffdfc835-b6f2-4369-9f20-0c2b094020d0	38029fed-8935-4482-a4e6-d0be1258b2e0	g.chr19:5770982G>A	ENST00000381624.3	+	19	1723	c.1662G>A	c.(1660-1662)ggG>ggA	p.G554G	CATSPERD_ENST00000309164.7_3'UTR|CATSPERD_ENST00000381614.2_Silent_p.G212G	NM_152784.3	NP_689997.3	Q86XM0	CTSRD_HUMAN	catsper channel auxiliary subunit delta	554					multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|single fertilization (GO:0007338)|sperm capacitation (GO:0048240)|sperm motility (GO:0030317)|sperm-egg recognition (GO:0035036)|spermatogenesis (GO:0007283)	CatSper complex (GO:0036128)|plasma membrane (GO:0005886)|sperm principal piece (GO:0097228)											GCTTCCAGGGGCAGCAGTCCT	0.587																																						ENST00000381624.3																			0											c.(1660-1662)ggG>ggA		catsper channel auxiliary subunit delta							73	73	73					19																	5770982		1930	4121	6051	SO:0001819	synonymous_variant	257062					integral to membrane		g.chr19:5770982G>A	BC043005	CCDS12149.2	19p13.3	2013-10-11	2012-02-22	2012-02-22	ENSG00000174898	ENSG00000174898			28598	protein-coding gene	gene with protein product			"transmembrane protein 146"	TMEM146		21224844	Standard	NM_152784		Approved	MGC39581	uc002mda.3	Q86XM0	OTTHUMG00000143036	ENST00000381624.3:c.1662G>A	19.37:g.5770982G>A						CATSPERD_ENST00000309164.7_3'UTR|CATSPERD_ENST00000381614.2_Silent_p.G212G	p.G554G	NM_152784.3	NP_689997.3	Q86XM0	TM146_HUMAN			19	1723	+			554					Q6ZRP1	Silent	SNP	ENST00000381624.3	37	c.1662G>A	CCDS12149.2																																																																																				0.587	CATSPERD-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000286953.2	NM_152784		6	84	0	0	0	1	0	6	84					A	5770982	G	A	5770982	2	1	182	1	0	0	0	0	0	0	0	1	16057	1190	42	3		3	TMEM146	19	5770982	Silent	SNP	G	TCGA-G9-7509-01A-11D-A41K-08	78770	5770982	53358001	30	8547											
FBN3	84467	broad.mit.edu	37	chr19	8161784	8161784	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccacacaagccccgcctggCgacagtttgtaccctcgggt	7	7	10	17	3	0	0	0	0	0	0	1	1	0	0	5	2	2	2	5	2	2	2	rs80293030	byFrequency	TCGA-G9-7509-01A-11D-A41K-08	TCGA-G9-7509-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffdfc835-b6f2-4369-9f20-0c2b094020d0	38029fed-8935-4482-a4e6-d0be1258b2e0	g.chr19:8161784C>T	ENST00000600128.1	-	43	5808	c.5394G>A	c.(5392-5394)tcG>tcA	p.S1798S	FBN3_ENST00000601739.1_Silent_p.S1798S|FBN3_ENST00000270509.2_Silent_p.S1798S			Q75N90	FBN3_HUMAN	fibrillin 3	1798	EGF-like 27; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.					proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)	p.S1798S(1)		NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						CCCCGCCTGGCGACAGTTTGT	0.617													C|||	21	0.00419329	0.0144	0.0014	5008	,	,		18133	0		0.001	False		,,,				2504	0					ENST00000600128.1																			1	Substitution - coding silent(1)	p.S1798S(1)	lung(1)	NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						c.(5392-5394)tcG>tcA		fibrillin 3		C		64,4342	59.3+/-96.0	0,64,2139	79	75	76		5394	-6.8	0	19	dbSNP_132	76	0,8600		0,0,4300	no	coding-synonymous	FBN3	NM_032447.3		0,64,6439	TT,TC,CC		0.0,1.4526,0.4921		1798/2810	8161784	64,12942	2203	4300	6503	SO:0001819	synonymous_variant	84467					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent	g.chr19:8161784C>T		CCDS12196.1	19p13	2008-02-05							18794	protein-coding gene	gene with protein product		608529					Standard	NM_032447		Approved		uc002mjf.3	Q75N90		ENST00000600128.1:c.5394G>A	19.37:g.8161784C>T						FBN3_ENST00000601739.1_Silent_p.S1798S|FBN3_ENST00000270509.2_Silent_p.S1798S	p.S1798S			Q75N90	FBN3_HUMAN			43	5808	-			1798			EGF-like 27; calcium-binding.		Q75N91|Q75N92|Q75N93|Q86SJ5|Q96JP8	Silent	SNP	ENST00000600128.1	37	c.5394G>A	CCDS12196.1																																																																																				0.617	FBN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461428.2	NM_032447		14	43	0	0	0	1	0	14	43					T	8161784	C	T	8161784	2	4	182	1	0	0	0	0	0	0	0	1	5704	755	27	1		1	FBN3	19	8161784	Silent	SNP	C	TCGA-G9-7509-01A-11D-A41K-08	2390802	8161784	50967199	31	8548											
FGF21	26291	broad.mit.edu	37	chr19	49261406	49261406	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcctggccccccagccccccGatgtgggctcctcggaccct	3	7	10	21	2	0	0	0	0	0	0	3	2	2	1	9	3	1	1	9	3	0	0	rs375785872		TCGA-G9-7509-01A-11D-A41K-08	TCGA-G9-7509-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffdfc835-b6f2-4369-9f20-0c2b094020d0	38029fed-8935-4482-a4e6-d0be1258b2e0	g.chr19:49261406G>A	ENST00000593756.1	+	4	1131	c.559G>A	c.(559-561)Gat>Aat	p.D187N	FUT1_ENST00000310160.3_5'Flank|FGF21_ENST00000222157.3_Missense_Mutation_p.D187N			Q9NSA1	FGF21_HUMAN	fibroblast growth factor 21	187					cell-cell signaling (GO:0007267)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of glucose import (GO:0046326)|positive regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045716)|positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway (GO:0090080)|regulation of low-density lipoprotein particle clearance (GO:0010988)|signal transduction (GO:0007165)	extracellular region (GO:0005576)				breast(1)|cervix(2)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	8		all_lung(116;1.7e-06)|all_epithelial(76;3.52e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000348)|Epithelial(262;0.019)|GBM - Glioblastoma multiforme(486;0.022)		CCAGCCCCCCGATGTGGGCTC	0.682													G|||	1	0.000199681	0	0	5008	,	,		7353	0		0.001	False		,,,				2504	0					ENST00000593756.1																			0				breast(1)|cervix(2)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	8						c.(559-561)Gat>Aat		fibroblast growth factor 21		G	ASN/ASP	1,4363		0,1,2181	11	15	13		559	3.6	0.7	19		13	0,8572		0,0,4286	no	missense	FGF21	NM_019113.2	23	0,1,6467	AA,AG,GG		0.0,0.0229,0.0077	probably-damaging	187/210	49261406	1,12935	2182	4286	6468	SO:0001583	missense	26291				cell-cell signaling|positive regulation of ERK1 and ERK2 cascade|positive regulation of glucose import	extracellular region|soluble fraction	growth factor activity	g.chr19:49261406G>A	AB021975	CCDS12734.1	19q13.33	2012-09-20			ENSG00000105550	ENSG00000105550			3678	protein-coding gene	gene with protein product		609436				10858549	Standard	XM_005258731		Approved		uc002pko.1	Q9NSA1		ENST00000593756.1:c.559G>A	19.37:g.49261406G>A	ENSP00000471477:p.Asp187Asn					FGF21_ENST00000222157.3_Missense_Mutation_p.D187N	p.D187N			Q9NSA1	FGF21_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000348)|Epithelial(262;0.019)|GBM - Glioblastoma multiforme(486;0.022)	4	1131	+		all_lung(116;1.7e-06)|all_epithelial(76;3.52e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)	187					Q8N683	Missense_Mutation	SNP	ENST00000593756.1	37	c.559G>A	CCDS12734.1	.	.	.	.	.	.	.	.	.	.	G	19.49	3.836703	0.71373	2.29E-4	0.0	ENSG00000105550	ENST00000222157	D	0.83992	-1.79	4.64	3.6	0.41247	.	0.061340	0.64402	D	0.000006	T	0.69251	0.3090	N	0.24115	0.695	0.30373	N	0.782724	B	0.29232	0.238	B	0.20184	0.028	T	0.69829	-0.5039	10	0.72032	D	0.01	-22.4417	9.0989	0.36656	0.1008:0.0:0.8992:0.0	.	187	Q9NSA1	FGF21_HUMAN	N	187	ENSP00000222157:D187N	ENSP00000222157:D187N	D	+	1	0	FGF21	53953218	0.522000	0.26266	0.652000	0.29579	0.818000	0.46254	1.585000	0.36600	1.313000	0.45069	0.511000	0.50034	GAT		0.682	FGF21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466200.1			3	23	0	0	0	1	0	3	23					A	49261406	G	A	49261406	3	1	182	1	0	0	0	0	1	0	0	0	5850	1058	37	2	569	2	FGF21	19	49261406	Missense_Mutation	SNP	G	TCGA-G9-7509-01A-11D-A41K-08	41099622	49261406	9867577	32	8549											
EIF4ENIF1	56478	broad.mit.edu	37	chr22	31854494	31854494	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcaccttatcaaggttaaaGaactcattaaagtcaaagtc	16	10	7	8	0	3	1	3	0	0	1	4	1	3	1	1	2	1	2	1	2	8	3			TCGA-G9-7509-01A-11D-A41K-08	TCGA-G9-7509-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffdfc835-b6f2-4369-9f20-0c2b094020d0	38029fed-8935-4482-a4e6-d0be1258b2e0	g.chr22:31854494G>T	ENST00000397525.1	-	7	1153	c.930C>A	c.(928-930)ttC>ttA	p.F310L	EIF4ENIF1_ENST00000382180.2_5'Flank|RP11-247I13.11_ENST00000464523.1_RNA|EIF4ENIF1_ENST00000344710.5_Missense_Mutation_p.F147L|EIF4ENIF1_ENST00000330125.5_Missense_Mutation_p.F310L|EIF4ENIF1_ENST00000397523.1_Missense_Mutation_p.F310L	NM_001164501.1	NP_001157973.1	Q9NRA8	4ET_HUMAN	eukaryotic translation initiation factor 4E nuclear import factor 1	310						cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|protein transporter activity (GO:0008565)	p.F310L(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						CAAGGTTAAAGAACTCATTAA	0.468																																						ENST00000397525.1																			1	Substitution - Missense(1)	p.F310L(1)	large_intestine(1)	autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(928-930)ttC>ttA		eukaryotic translation initiation factor 4E nuclear import factor 1							77	68	71					22																	31854494		2203	4300	6503	SO:0001583	missense	56478					nucleus	protein binding|protein transporter activity	g.chr22:31854494G>T	AF240775	CCDS13898.1, CCDS54520.1	22q11.2	2007-01-16			ENSG00000184708	ENSG00000184708			16687	protein-coding gene	gene with protein product		607445				10856257	Standard	NM_019843		Approved	4E-T, FLJ21601, Clast4, 2610509L04Rik	uc003akz.2	Q9NRA8	OTTHUMG00000030793	ENST00000397525.1:c.930C>A	22.37:g.31854494G>T	ENSP00000380659:p.Phe310Leu					EIF4ENIF1_ENST00000344710.5_Missense_Mutation_p.F147L|EIF4ENIF1_ENST00000330125.5_Missense_Mutation_p.F310L|RP11-247I13.11_ENST00000464523.1_RNA|EIF4ENIF1_ENST00000397523.1_Missense_Mutation_p.F310L	p.F310L	NM_001164501.1	NP_001157973.1	Q9NRA8	4ET_HUMAN			7	1153	-			310					B1AKL2|B1AKL3|B2RBF1|Q8NCF2|Q9H708	Missense_Mutation	SNP	ENST00000397525.1	37	c.930C>A	CCDS13898.1	.	.	.	.	.	.	.	.	.	.	G	25.2	4.612160	0.87258	.	.	ENSG00000184708	ENST00000344710;ENST00000397525;ENST00000330125;ENST00000397523;ENST00000420671	.	.	.	5.74	5.74	0.90152	.	0.047117	0.85682	D	0.000000	T	0.71169	0.3308	M	0.69823	2.125	0.80722	D	1	D;B	0.63046	0.992;0.068	D;B	0.76071	0.987;0.062	T	0.67906	-0.5549	9	0.27082	T	0.32	-7.64	10.446	0.44495	0.1481:0.0:0.8519:0.0	.	147;310	B1AKL3;Q9NRA8	.;4ET_HUMAN	L	147;310;310;310;310	.	ENSP00000328103:F310L	F	-	3	2	EIF4ENIF1	30184494	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.021000	0.64072	2.723000	0.93209	0.655000	0.94253	TTC		0.468	EIF4ENIF1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127926.1	NM_019843		4	36	1	0	0.00909568	1	0.00909568	4	36					T	31854494	G	T	31854494	3	4	182	1	0	0	0	0	1	0	0	0	5035	933	33	5	2082	5	EIF4ENIF1	22	31854494	Missense_Mutation	SNP	G	TCGA-G9-7509-01A-11D-A41K-08		31854494	19450072	33	8550											
TMEM164	84187	broad.mit.edu	37	chrX	109416587	109416587	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctctcatgaccatgacccacGggaagctggtcatcctgttc	8	10	9	14	1	2	2	2	2	1	0	5	3	3	3	3	2	1	2	3	2	1	1			TCGA-G9-7509-01A-11D-A41K-08	TCGA-G9-7509-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffdfc835-b6f2-4369-9f20-0c2b094020d0	38029fed-8935-4482-a4e6-d0be1258b2e0	g.chrX:109416587G>C	ENST00000372073.1	+	7	1138	c.802G>C	c.(802-804)Ggg>Cgg	p.G268R	TMEM164_ENST00000372072.3_Missense_Mutation_p.G119R|TMEM164_ENST00000464177.1_3'UTR|TMEM164_ENST00000372068.2_Missense_Mutation_p.G268R|TMEM164_ENST00000288381.4_Missense_Mutation_p.G229R			Q5U3C3	TM164_HUMAN	transmembrane protein 164	268						integral component of membrane (GO:0016021)				cervix(1)|endometrium(1)|large_intestine(5)|lung(6)|skin(1)	14						CATGACCCACGGGAAGCTGGT	0.532																																						ENST00000372073.1																			0				cervix(1)|endometrium(1)|large_intestine(5)|lung(6)|skin(1)	14						c.(802-804)Ggg>Cgg		transmembrane protein 164							96	84	88					X																	109416587		2203	4300	6503	SO:0001583	missense	84187					integral to membrane		g.chrX:109416587G>C	AK094127	CCDS14550.2, CCDS55475.1	Xq22.3	2008-02-05			ENSG00000157600	ENSG00000157600			26217	protein-coding gene	gene with protein product						12477932	Standard	NM_032227		Approved	FLJ22679, RP13-360B22.2	uc004eom.3	Q5U3C3	OTTHUMG00000022192	ENST00000372073.1:c.802G>C	X.37:g.109416587G>C	ENSP00000361143:p.Gly268Arg					TMEM164_ENST00000464177.1_3'UTR|TMEM164_ENST00000372072.3_Missense_Mutation_p.G119R|TMEM164_ENST00000288381.4_Missense_Mutation_p.G229R|TMEM164_ENST00000372068.2_Missense_Mutation_p.G268R	p.G268R			Q5U3C3	TM164_HUMAN			7	1138	+			268					B3KSQ8|F5H2P2	Missense_Mutation	SNP	ENST00000372073.1	37	c.802G>C	CCDS14550.2	.	.	.	.	.	.	.	.	.	.	g	27.9	4.876935	0.91664	.	.	ENSG00000157600	ENST00000372072;ENST00000372073;ENST00000372068;ENST00000288381;ENST00000501872	T;T;T;T	0.44083	0.93;0.93;0.93;0.93	5.2	5.2	0.72013	.	0.046251	0.85682	D	0.000000	T	0.60560	0.2278	L	0.55481	1.735	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79784	0.993;0.99	T	0.58335	-0.7654	10	0.37606	T	0.19	-4.9065	17.9986	0.89192	0.0:0.0:1.0:0.0	.	229;268	Q9H617;Q5U3C3	.;TM164_HUMAN	R	119;268;268;229;229	ENSP00000384075:G119R;ENSP00000361143:G268R;ENSP00000361138:G268R;ENSP00000288381:G229R	ENSP00000288381:G229R	G	+	1	0	TMEM164	109303243	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.472000	0.97709	2.185000	0.69588	0.464000	0.42555	GGG		0.532	TMEM164-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057898.1	NM_032227		19	29	0	0	0	1	0	19	29					C	109416587	G	C	109416587	3	2	182	1	0	0	0	0	1	0	0	0	16076	1116	39	5	824	5	TMEM164	23	109416587	Missense_Mutation	SNP	G	TCGA-G9-7509-01A-11D-A41K-08		109416587	45853973	34	8551											
ATAD3C	219293	broad.mit.edu	37	chr1	1389856	1389856	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acgtcccgcatcacggtgctTgaggcgctgcggcaccccat	6	7	12	16	5	1	1	1	1	0	0	2	1	2	1	3	3	2	4	3	3	0	1	rs1781146		TCGA-G9-7510-01A-11D-2260-08	TCGA-G9-7510-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a7ebb7c-bb87-4bc6-8d42-00dffd9591e1	98899bed-24c3-494b-83c6-27e994e986c1	g.chr1:1389856T>G	ENST00000378785.2	+	4	1349	c.354T>G	c.(352-354)ctT>ctG	p.L118L		NM_001039211.2	NP_001034300.2	Q5T2N8	ATD3C_HUMAN	ATPase family, AAA domain containing 3C	118							ATP binding (GO:0005524)			autonomic_ganglia(1)|endometrium(1)|kidney(1)|lung(4)	7	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		TCACGGTGCTTGAGGCGCTGC	0.667																																						ENST00000378785.2																			0				autonomic_ganglia(1)|endometrium(1)|kidney(1)|lung(4)	7						c.(352-354)ctT>ctG		ATPase family, AAA domain containing 3C																																				SO:0001819	synonymous_variant	219293						ATP binding|nucleoside-triphosphatase activity	g.chr1:1389856T>G	AK091918	CCDS44039.1	1p36.33	2010-04-21		2007-02-08	ENSG00000215915	ENSG00000215915		"ATPases / AAA-type"	32151	protein-coding gene	gene with protein product							Standard	NM_001039211		Approved	FLJ34599	uc001aft.2	Q5T2N8	OTTHUMG00000000531	ENST00000378785.2:c.354T>G	1.37:g.1389856T>G							p.L118L	NM_001039211.2	NP_001034300.2	Q5T2N8	ATD3C_HUMAN		Epithelial(90;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)	4	1349	+	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)	118					Q8N1Z5	Silent	SNP	ENST00000378785.2	37	c.354T>G	CCDS44039.1																																																																																				0.667	ATAD3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001279.3	NM_001039211		3	13	0	0	0	1	0	3	13					G	1389856	T	G	1389856	2	3	183	1	0	0	0	0	0	0	0	1	1075	1799	63	5		5	ATAD3C	1	1389856	Silent	SNP	T	TCGA-G9-7510-01A-11D-2260-08		1389856	247860765	1	8552											
PDE4DIP	9659	broad.mit.edu	37	chr1	144874026	144874026	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	aatgactcgaatgatggatgGaatctataaaatccatgaat	17	11	8	5	1	1	3	0	3	1	0	3	6	2	5	1	2	0	0	1	2	7	2			TCGA-G9-7510-01A-11D-2260-08	TCGA-G9-7510-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a7ebb7c-bb87-4bc6-8d42-00dffd9591e1	98899bed-24c3-494b-83c6-27e994e986c1	g.chr1:144874026G>C	ENST00000369354.3	-	31	5120	c.4931C>G	c.(4930-4932)tCc>tGc	p.S1644C	PDE4DIP_ENST00000524974.1_5'UTR|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.S1644C|PDE4DIP_ENST00000313382.9_Missense_Mutation_p.S1600C|RP4-791M13.5_ENST00000531288.1_RNA|PDE4DIP_ENST00000369359.4_Missense_Mutation_p.S1780C|PDE4DIP_ENST00000530740.1_Intron			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	1644					cellular protein complex assembly (GO:0043623)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|myofibril (GO:0030016)|nucleus (GO:0005634)	enzyme binding (GO:0019899)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		ATGATGGATGGAATCTATAAA	0.458			T	PDGFRB	MPD																																	ENST00000369359.4				Dom	yes		1	1q12	9659	T	phosphodiesterase 4D interacting protein (myomegalin)			L	PDGFRB		MPD		0				NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176						c.(5338-5340)tCc>tGc		phosphodiesterase 4D interacting protein							321	333	329					1																	144874026		2203	4296	6499	SO:0001583	missense	9659				cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding	g.chr1:144874026G>C	AB007923, AB007946	CCDS72887.1, CCDS72888.1, CCDS72889.1, CCDS72890.1, CCDS72891.1, CCDS72892.1, CCDS72893.1, CCDS72894.1	1q21.1	2008-07-31	2008-07-31		ENSG00000178104	ENSG00000178104			15580	protein-coding gene	gene with protein product	"myomegalin"	608117	"cardiomyopathy associated 2"	CMYA2		9455484, 11134006	Standard	NM_022359		Approved	KIAA0477, KIAA0454, MMGL	uc021ouh.1	Q5VU43	OTTHUMG00000013846	ENST00000369354.3:c.4931C>G	1.37:g.144874026G>C	ENSP00000358360:p.Ser1644Cys					PDE4DIP_ENST00000313382.9_Missense_Mutation_p.S1600C|PDE4DIP_ENST00000530740.1_Intron|PDE4DIP_ENST00000369354.3_Missense_Mutation_p.S1644C|PDE4DIP_ENST00000524974.1_5'UTR|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.S1644C	p.S1780C			Q5VU43	MYOME_HUMAN		Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)	34	5377	-			1644					A2RU15|O75042|O75065|Q2YDC1|Q5VU42|Q5VU44|Q5VU45|Q5VU46|Q5VU47|Q5VU48|Q5VU49|Q68DU2|Q6AZ93|Q6PK88|Q86T40|Q86TB2|Q8N3W0|Q8TAY9|Q9HCP2|Q9HCP3|Q9HCP4|Q9HCP5	Missense_Mutation	SNP	ENST00000369354.3	37	c.5339C>G	CCDS30824.1	.	.	.	.	.	.	.	.	.	.	G	15.17	2.753675	0.49362	.	.	ENSG00000178104	ENST00000313382;ENST00000369354;ENST00000369356;ENST00000369359	T;T;T;T	0.01963	4.53;4.63;4.62;4.63	5.27	2.43	0.29744	.	.	.	.	.	T	0.02342	0.0072	L	0.56769	1.78	0.80722	D	1	D;D	0.56287	0.975;0.957	P;P	0.53062	0.717;0.525	T	0.52873	-0.8517	9	0.72032	D	0.01	.	7.2899	0.26360	0.269:0.0:0.731:0.0	.	1600;1644	Q5VU43-3;Q5VU43	.;MYOME_HUMAN	C	1600;1644;1644;1780	ENSP00000327209:S1600C;ENSP00000358360:S1644C;ENSP00000358363:S1644C;ENSP00000358366:S1780C	ENSP00000327209:S1600C	S	-	2	0	PDE4DIP	143585383	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	2.108000	0.41854	0.385000	0.24970	-0.142000	0.14014	TCC		0.458	PDE4DIP-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000038858.2	NM_022359		6	321	0	0	0	1	0	6	321					C	144874026	G	C	144874026	3	2	183	1	0	0	0	0	1	0	0	0	11643	1174	41	5	2165	5	PDE4DIP	1	144874026	Missense_Mutation	SNP	G	TCGA-G9-7510-01A-11D-2260-08	143484170	144874026	104376595	2	8553											
CCDC19	25790	broad.mit.edu	37	chr1	159860391	159860391	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gagcagcacaatggggctgtCgctctggccctgggctgggg	5	7	18	11	1	1	0	0	0	1	0	2	1	1	0	1	6	2	5	1	6	1	0			TCGA-G9-7510-01A-11D-2260-08	TCGA-G9-7510-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a7ebb7c-bb87-4bc6-8d42-00dffd9591e1	98899bed-24c3-494b-83c6-27e994e986c1	g.chr1:159860391C>T	ENST00000368099.4	-	3	215	c.151G>A	c.(151-153)Gac>Aac	p.D51N	CCDC19_ENST00000476696.1_5'UTR|CCDC19_ENST00000426543.2_5'UTR	NM_012337.2	NP_036469.2														endometrium(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	26	all_hematologic(112;0.0597)		BRCA - Breast invasive adenocarcinoma(70;0.151)			ATGGGGCTGTCGCTCTGGCCC	0.527																																						ENST00000368099.4																			0				endometrium(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	26						c.(151-153)Gac>Aac		coiled-coil domain containing 19							113	112	112					1																	159860391		2203	4300	6503	SO:0001583	missense	25790					mitochondrion|soluble fraction		g.chr1:159860391C>T																												ENST00000368099.4:c.151G>A	1.37:g.159860391C>T	ENSP00000357079:p.Asp51Asn					CCDC19_ENST00000476696.1_5'UTR|CCDC19_ENST00000426543.2_5'UTR	p.D51N	NM_012337.2	NP_036469.2	Q9UL16	CCD19_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.151)		3	215	-	all_hematologic(112;0.0597)		51						Missense_Mutation	SNP	ENST00000368099.4	37	c.151G>A	CCDS30914.1	.	.	.	.	.	.	.	.	.	.	C	8.233	0.805046	0.16467	.	.	ENSG00000213085	ENST00000368099	T	0.45668	0.89	5.35	3.37	0.38596	.	0.798055	0.11777	N	0.530536	T	0.15046	0.0363	L	0.54323	1.7	0.32258	N	0.57052	P;P	0.39782	0.688;0.688	B;B	0.27380	0.079;0.079	T	0.06427	-1.0827	9	.	.	.	-14.7667	6.6586	0.23000	0.0:0.7239:0.1805:0.0956	.	51;51	A8K884;Q9UL16	.;CCD19_HUMAN	N	51	ENSP00000357079:D51N	.	D	-	1	0	CCDC19	158127015	0.242000	0.23868	0.748000	0.31131	0.367000	0.29736	0.427000	0.21379	1.261000	0.44149	0.563000	0.77884	GAC		0.527	CCDC19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085979.1			12	110	0	0	0	1	0	12	110					T	159860391	C	T	159860391	3	4	183	1	0	0	0	0	1	0	0	0	2795	884	31	2	1544	2	CCDC19	1	159860391	Missense_Mutation	SNP	C	TCGA-G9-7510-01A-11D-2260-08	14986365	159860391	89390230	3	8554											
SLC38A11	151258	broad.mit.edu	37	chr2	165765267	165765267	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gaaagattcccaccaaaaaaCacattggcaattacctgccg	16	7	6	12	1	0	1	0	0	0	1	1	2	1	1	4	1	3	1	4	1	6	3			TCGA-G9-7510-01A-11D-2260-08	TCGA-G9-7510-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a7ebb7c-bb87-4bc6-8d42-00dffd9591e1	98899bed-24c3-494b-83c6-27e994e986c1	g.chr2:165765267C>A	ENST00000409149.3	-	10	1101	c.810G>T	c.(808-810)gtG>gtT	p.V270V	SLC38A11_ENST00000409058.1_Silent_p.V301V|SLC38A11_ENST00000493887.1_5'Flank|SLC38A11_ENST00000409662.1_Silent_p.V270V|SLC38A11_ENST00000303735.4_Silent_p.V248V	NM_001199148.1	NP_001186077.1	Q08AI6	S38AB_HUMAN	solute carrier family 38, member 11	270					amino acid transport (GO:0006865)|sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)				endometrium(2)|large_intestine(4)|lung(8)|ovary(1)	15						CACCAAAAAACACATTGGCAA	0.393																																						ENST00000303735.4																			0				endometrium(2)|large_intestine(4)|lung(8)|ovary(1)	15						c.(742-744)gtG>gtT		solute carrier family 38, member 11							75	71	72					2																	165765267		2203	4300	6503	SO:0001819	synonymous_variant	151258				amino acid transport|sodium ion transport	integral to membrane		g.chr2:165765267C>A		CCDS2224.1, CCDS56142.1	2q24.3	2013-05-22			ENSG00000169507	ENSG00000169507		"Solute carriers"	26836	protein-coding gene	gene with protein product							Standard	NM_173512		Approved	FLJ39822, AVT2	uc002ucw.2	Q08AI6	OTTHUMG00000132144	ENST00000409149.3:c.810G>T	2.37:g.165765267C>A						SLC38A11_ENST00000409149.3_Silent_p.V270V|SLC38A11_ENST00000409058.1_Silent_p.V301V|SLC38A11_ENST00000409662.1_Silent_p.V270V	p.V248V	NM_173512.2	NP_775783.1	Q08AI6	S38AB_HUMAN			9	1074	-			270					B4DF99|Q8N887	Silent	SNP	ENST00000409149.3	37	c.744G>T	CCDS56142.1																																																																																				0.393	SLC38A11-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333390.1	NM_173512		3	49	1	0	2.56e-06	1	2.7648e-06	3	49					A	165765267	C	A	165765267	2	1	183	1	0	0	0	0	0	0	0	1	14603	465	17	5		5	SLC38A11	2	165765267	Silent	SNP	C	TCGA-G9-7510-01A-11D-2260-08		165765267	77434106	4	8555											
HOXD3	3232	broad.mit.edu	37	chr2	177036309	177036309	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cgggtacgcacggcatacacGagcgcgcagctggtggaatt	9	6	15	11	6	0	0	0	0	0	0	0	2	0	1	0	4	4	5	0	4	3	3			TCGA-G9-7510-01A-11D-2260-08	TCGA-G9-7510-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a7ebb7c-bb87-4bc6-8d42-00dffd9591e1	98899bed-24c3-494b-83c6-27e994e986c1	g.chr2:177036309G>A	ENST00000468418.3	+	4	2696	c.606G>A	c.(604-606)acG>acA	p.T202T	HOXD-AS1_ENST00000416928.2_RNA|HOXD3_ENST00000410016.1_Silent_p.T202T|HOXD3_ENST00000249440.3_Silent_p.T202T			P31249	HXD3_HUMAN	homeobox D3	202					anterior/posterior pattern specification (GO:0009952)|cartilage development (GO:0051216)|cell-matrix adhesion (GO:0007160)|embryonic skeletal system morphogenesis (GO:0048704)|Notch signaling pathway (GO:0007219)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron differentiation (GO:0045666)|thyroid gland development (GO:0030878)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.T202T(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(11)|prostate(1)|upper_aerodigestive_tract(2)	23			OV - Ovarian serous cystadenocarcinoma(117;0.00569)|Epithelial(96;0.0864)|all cancers(119;0.226)	Colorectal(32;0.247)		CGGCATACACGAGCGCGCAGC	0.637																																						ENST00000468418.3																			1	Substitution - coding silent(1)	p.T202T(1)	breast(1)	breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(11)|prostate(1)|upper_aerodigestive_tract(2)	23						c.(604-606)acG>acA		homeobox D3							52	51	52					2																	177036309		2203	4300	6503	SO:0001819	synonymous_variant	3232				anterior/posterior pattern formation|cartilage development|cell-matrix adhesion|embryonic skeletal system morphogenesis|Notch signaling pathway|positive regulation of gene expression|positive regulation of neuron differentiation|thyroid gland development		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:177036309G>A		CCDS2270.1	2q31.1	2011-06-20	2005-12-22		ENSG00000128652	ENSG00000128652		"Homeoboxes / ANTP class : HOXL subclass"	5137	protein-coding gene	gene with protein product		142980	"homeo box D3"	HOX4A, HOX4, HOX1D		1973146, 1358459	Standard	NM_006898		Approved		uc002ukt.1	P31249	OTTHUMG00000132517	ENST00000468418.3:c.606G>A	2.37:g.177036309G>A						HOXD3_ENST00000410016.1_Silent_p.T202T|HOXD3_ENST00000249440.3_Silent_p.T202T	p.T202T			P31249	HXD3_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00569)|Epithelial(96;0.0864)|all cancers(119;0.226)	Colorectal(32;0.247)	4	2696	+			202					Q99955|Q9BSC5	Silent	SNP	ENST00000468418.3	37	c.606G>A	CCDS2270.1																																																																																				0.637	HOXD3-005	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334246.4			7	49	0	0	0	1	0	7	49					A	177036309	G	A	177036309	2	1	183	1	0	0	0	0	0	0	0	1	7323	1045	37	2		2	HOXD3	2	177036309	Silent	SNP	G	TCGA-G9-7510-01A-11D-2260-08	11271042	177036309	66163064	5	8556											
TTN	7273	broad.mit.edu	37	chr2	179456528	179456528	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aaatatccagtgattggagaAccaccatcacgatccggctt	13	9	8	11	2	1	2	1	1	0	1	3	4	3	2	4	2	1	1	4	2	3	3			TCGA-G9-7510-01A-11D-2260-08	TCGA-G9-7510-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a7ebb7c-bb87-4bc6-8d42-00dffd9591e1	98899bed-24c3-494b-83c6-27e994e986c1	g.chr2:179456528A>G	ENST00000591111.1	-	253	55319	c.55095T>C	c.(55093-55095)ggT>ggC	p.G18365G	TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Silent_p.G17438G|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000589042.1_Silent_p.G20006G|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000359218.5_Silent_p.G11066G|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000460472.2_Silent_p.G10941G|TTN_ENST00000342175.6_Silent_p.G11133G|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000590743.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000590932.1_RNA			Q8WZ42	TITIN_HUMAN	titin	18365	Fibronectin type-III 33. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGATTGGAGAACCACCATCAC	0.458																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(60016-60018)ggT>ggC		titin							76	72	73					2																	179456528		1867	4093	5960	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179456528A>G	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.55095T>C	2.37:g.179456528A>G						TTN_ENST00000359218.5_Silent_p.G11066G|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Silent_p.G10941G|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Silent_p.G18365G|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000342992.6_Silent_p.G17438G|TTN_ENST00000342175.6_Silent_p.G11133G|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000589907.1_RNA	p.G20006G	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		303	60242	-			18365			Fibronectin type-III 44.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	ENST00000591111.1	37	c.60018T>C																																																																																					0.458	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		8	35	0	0	0	1	0	8	35					G	179456528	A	G	179456528	2	3	183	1	0	0	0	0	0	0	0	1	16732	30	2	4		4	TTN	2	179456528	Silent	SNP	A	TCGA-G9-7510-01A-11D-2260-08	2420219	179456528	63742845	6	8557											
PDCD1	5133	broad.mit.edu	37	chr2	242794881	242794881	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attgcgccgggccctgaccaCgctcatgtggaagtcacgcc	7	7	12	15	4	2	1	2	1	0	0	2	2	2	2	4	2	1	1	4	2	1	1	rs190602950		TCGA-G9-7510-01A-11D-2260-08	TCGA-G9-7510-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a7ebb7c-bb87-4bc6-8d42-00dffd9591e1	98899bed-24c3-494b-83c6-27e994e986c1	g.chr2:242794881C>T	ENST00000334409.5	-	2	397	c.328G>A	c.(328-330)Gtg>Atg	p.V110M		NM_005018.2	NP_005009.2	Q15116	PDCD1_HUMAN	programmed cell death 1	110	Ig-like V-type.				apoptotic process (GO:0006915)|humoral immune response (GO:0006959)|multicellular organismal development (GO:0007275)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	signal transducer activity (GO:0004871)			endometrium(1)|lung(2)|ovary(1)|prostate(3)|skin(1)	8		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;3.84e-33)|all cancers(36;8.08e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.41e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0219)		GCCCTGACCACGCTCATGTGG	0.677													C|||	1	0.000199681	0	0.0014	5008	,	,		15651	0		0	False		,,,				2504	0					ENST00000334409.5																			0				endometrium(1)|lung(2)|ovary(1)|prostate(3)|skin(1)	8						c.(328-330)Gtg>Atg		programmed cell death 1							48	51	50					2																	242794881		2203	4300	6503	SO:0001583	missense	5133				apoptosis|humoral immune response|multicellular organismal development|T cell costimulation	integral to membrane	protein tyrosine phosphatase activity|signal transducer activity	g.chr2:242794881C>T	AY206416	CCDS33428.1	2q37.3	2014-01-29			ENSG00000188389	ENSG00000188389		"CD molecules", "Immunoglobulin superfamily / V-set domain containing"	8760	protein-coding gene	gene with protein product		600244	"systemic lupus erythematosus susceptibility 2"	SLEB2		7851902, 12402038	Standard	NM_005018		Approved	CD279, PD1, hSLE1	uc002wcq.4	Q15116	OTTHUMG00000151342	ENST00000334409.5:c.328G>A	2.37:g.242794881C>T	ENSP00000335062:p.Val110Met						p.V110M	NM_005018.2	NP_005009.2	Q15116	PDCD1_HUMAN		Epithelial(32;3.84e-33)|all cancers(36;8.08e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.41e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0219)	2	397	-		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)	110			Ig-like V-type.		O00517|Q8IX89	Missense_Mutation	SNP	ENST00000334409.5	37	c.328G>A	CCDS33428.1	1|1	4.578754578754579E-4|4.578754578754579E-4	0|0	0.0|0.0	1|1	0.0027624309392265192|0.0027624309392265192	0|0	0.0|0.0	0|0	0.0|0.0	.|.	10.22|10.22	1.290846|1.290846	0.23564|0.23564	.|.	.|.	ENSG00000188389|ENSG00000188389	ENST00000343705|ENST00000334409;ENST00000539073	.|T	.|0.64803	.|-0.12	3.54|3.54	-6.56|-6.56	0.01848|0.01848	.|Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin V-set, subgroup (1);Immunoglobulin-like fold (1);	.|1.336370	.|0.05208	.|N	.|0.506261	T|T	0.59865|0.59865	0.2225|0.2225	L|L	0.40543|0.40543	1.245|1.245	0.09310|0.09310	N|N	1|1	.|D;D	.|0.58970	.|0.984;0.984	.|P;P	.|0.53490	.|0.727;0.727	T|T	0.64529|0.64529	-0.6386|-0.6386	5|10	.|0.87932	.|D	.|0	-16.5128|-16.5128	8.1539|8.1539	0.31156|0.31156	0.0:0.16:0.1303:0.7098|0.0:0.16:0.1303:0.7098	.|.	.|110;110	.|Q8IX89;Q15116	.|.;PDCD1_HUMAN	H|M	53|110	.|ENSP00000335062:V110M	.|ENSP00000335062:V110M	R|V	-|-	2|1	0|0	PDCD1|PDCD1	242443554|242443554	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.008000|0.008000	0.06430|0.06430	-1.222000|-1.222000	0.02965|0.02965	-1.613000|-1.613000	0.01577|0.01577	-0.348000|-0.348000	0.07805|0.07805	CGT|GTG		0.677	PDCD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322313.1	NM_005018		6	48	0	0	0	1	0	6	48					T	242794881	C	T	242794881	3	4	183	1	0	0	0	0	1	0	0	0	11615	536	19	1	554	1	PDCD1	2	242794881	Missense_Mutation	SNP	C	TCGA-G9-7510-01A-11D-2260-08	63338353	242794881	404492	7	8558											
ACAA1	30	broad.mit.edu	37	chr3	38168013	38168013	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtctcaccagctgtggtagAaccatctttcttgaaggcag	10	11	10	10	0	3	2	1	1	3	1	4	2	3	2	2	2	2	3	2	2	3	3			TCGA-G9-7510-01A-11D-2260-08	TCGA-G9-7510-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a7ebb7c-bb87-4bc6-8d42-00dffd9591e1	98899bed-24c3-494b-83c6-27e994e986c1	g.chr3:38168013A>G	ENST00000333167.8	-	8	977	c.805T>C	c.(805-807)Tct>Cct	p.S269P	ACAA1_ENST00000544624.1_Missense_Mutation_p.S117P|ACAA1_ENST00000450296.1_Missense_Mutation_p.S228P|Y_RNA_ENST00000365095.1_RNA|ACAA1_ENST00000480865.1_5'UTR|ACAA1_ENST00000444607.2_3'UTR|ACAA1_ENST00000301810.7_Missense_Mutation_p.S236P	NM_001607.3	NP_001598.1	P09110	THIK_HUMAN	acetyl-CoA acyltransferase 1	269					alpha-linolenic acid metabolic process (GO:0036109)|bile acid metabolic process (GO:0008206)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|small molecule metabolic process (GO:0044281)|unsaturated fatty acid metabolic process (GO:0033559)|very long-chain fatty acid metabolic process (GO:0000038)	intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	acetyl-CoA C-acyltransferase activity (GO:0003988)|palmitoyl-CoA oxidase activity (GO:0016401)			endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)	9				KIRC - Kidney renal clear cell carcinoma(284;0.0523)|Kidney(284;0.0657)		GCTGTGGTAGAACCATCTTTC	0.587																																						ENST00000333167.8																			0				endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)	9						c.(805-807)Tct>Cct		acetyl-CoA acyltransferase 1							155	131	139					3																	38168013		2203	4300	6503	SO:0001583	missense	30				fatty acid beta-oxidation using acyl-CoA oxidase|generation of precursor metabolites and energy	peroxisomal matrix	acetyl-CoA C-acyltransferase activity|protein binding	g.chr3:38168013A>G	X14813	CCDS2673.1, CCDS46794.1	3p22.2	2012-05-16	2010-04-30		ENSG00000060971	ENSG00000060971	2.3.1.16		82	protein-coding gene	gene with protein product	"peroxisomal 3-oxoacyl-Coenzyme A thiolase"	604054	"acetyl-Coenzyme A acyltransferase 1"				Standard	NM_001607		Approved		uc003cht.3	P09110	OTTHUMG00000131087	ENST00000333167.8:c.805T>C	3.37:g.38168013A>G	ENSP00000333664:p.Ser269Pro					ACAA1_ENST00000450296.1_Missense_Mutation_p.S228P|ACAA1_ENST00000301810.7_Missense_Mutation_p.S236P|ACAA1_ENST00000544624.1_Missense_Mutation_p.S117P|ACAA1_ENST00000444607.2_3'UTR|ACAA1_ENST00000480865.1_5'UTR	p.S269P	NM_001607.3	NP_001598.1	P09110	THIK_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0523)|Kidney(284;0.0657)	8	977	-			269					G5E935|Q96CA6	Missense_Mutation	SNP	ENST00000333167.8	37	c.805T>C	CCDS2673.1	.	.	.	.	.	.	.	.	.	.	A	8.332	0.826625	0.16749	.	.	ENSG00000060971	ENST00000333167;ENST00000301810;ENST00000450296;ENST00000358122;ENST00000544624	D;D;D;D	0.91011	-2.77;-2.22;-2.77;-2.77	5.35	4.16	0.48862	Thiolase-like, subgroup (1);Thiolase, N-terminal (1);Thiolase-like (1);	0.181996	0.56097	D	0.000028	D	0.94456	0.8216	M	0.89904	3.07	0.80722	D	1	P;P;D;D	0.60160	0.943;0.944;0.987;0.983	P;P;D;P	0.63793	0.634;0.811;0.918;0.832	D	0.92441	0.5962	10	0.19147	T	0.46	-20.0348	9.3002	0.37840	0.5455:0.0:0.0:0.4545	.	201;228;236;269	F5GXL8;C9JDE9;G5E935;P09110	.;.;.;THIK_HUMAN	P	269;236;228;201;117	ENSP00000333664:S269P;ENSP00000301810:S236P;ENSP00000395183:S228P;ENSP00000445710:S117P	ENSP00000301810:S236P	S	-	1	0	ACAA1	38143017	1.000000	0.71417	0.806000	0.32338	0.773000	0.43773	4.496000	0.60360	0.824000	0.34613	0.533000	0.62120	TCT		0.587	ACAA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342980.1	NM_001607		7	62	0	0	0	1	0	7	62					G	38168013	A	G	38168013	3	3	183	1	0	0	0	0	1	0	0	0	104	246	9	4	489	4	ACAA1	3	38168013	Missense_Mutation	SNP	A	TCGA-G9-7510-01A-11D-2260-08		38168013	159854417	8	8559											
IL20RB	53833	broad.mit.edu	37	chr3	136729019	136729019	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaggtggatgcctgtgccaCggctgtgatgtctcctgagg	5	10	17	9	1	1	2	0	2	1	0	2	4	1	4	3	5	2	1	3	5	0	0			TCGA-G9-7510-01A-11D-2260-08	TCGA-G9-7510-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a7ebb7c-bb87-4bc6-8d42-00dffd9591e1	98899bed-24c3-494b-83c6-27e994e986c1	g.chr3:136729019C>T	ENST00000329582.4	+	7	1139	c.890C>T	c.(889-891)aCg>aTg	p.T297M	IL20RB_ENST00000309741.5_3'UTR	NM_144717.3	NP_653318.2	Q6UXL0	I20RB_HUMAN	interleukin 20 receptor beta	297					homeostasis of number of cells within a tissue (GO:0048873)|immune response-inhibiting signal transduction (GO:0002765)|inflammatory response to antigenic stimulus (GO:0002437)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of T cell proliferation (GO:0042130)|negative regulation of type IV hypersensitivity (GO:0001808)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-4 production (GO:0032753)	integral component of membrane (GO:0016021)				kidney(2)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14						GCCTGTGCCACGGCTGTGATG	0.478																																						ENST00000329582.4																			0				kidney(2)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14						c.(889-891)aCg>aTg		interleukin 20 receptor beta							93	93	93					3																	136729019		2203	4300	6503	SO:0001583	missense	53833					integral to membrane	receptor activity	g.chr3:136729019C>T	BC033292	CCDS3093.1	3q22.3	2013-02-11			ENSG00000174564	ENSG00000174564		"Interleukins and interleukin receptors", "Fibronectin type III domain containing"	6004	protein-coding gene	gene with protein product		605621	"fibronectin type III domain containing 6"	FNDC6		11163236, 16703417	Standard	NM_144717		Approved	DIRS1, IL-20R2, MGC34923	uc003eri.2	Q6UXL0	OTTHUMG00000159779	ENST00000329582.4:c.890C>T	3.37:g.136729019C>T	ENSP00000328133:p.Thr297Met					IL20RB_ENST00000309741.5_3'UTR	p.T297M	NM_144717.3	NP_653318.2	Q6UXL0	I20RB_HUMAN			7	1139	+			297					B4DL40|Q6P438|Q8IYY5|Q8TAJ7	Missense_Mutation	SNP	ENST00000329582.4	37	c.890C>T	CCDS3093.1	.	.	.	.	.	.	.	.	.	.	C	9.760	1.169758	0.21621	.	.	ENSG00000174564	ENST00000329582	T	0.54675	0.56	5.64	-9.55	0.00569	.	1.437790	0.04168	N	0.324246	T	0.42810	0.1219	L	0.32530	0.975	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.38067	-0.9678	10	0.48119	T	0.1	9.8719	18.6807	0.91545	0.0:0.1822:0.0:0.8178	.	297	Q6UXL0	I20RB_HUMAN	M	297	ENSP00000328133:T297M	ENSP00000328133:T297M	T	+	2	0	IL20RB	138211709	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.877000	0.00717	-2.299000	0.00659	-1.876000	0.00548	ACG		0.478	IL20RB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357277.2	NM_144717		14	88	0	0	0	1	0	14	88					T	136729019	C	T	136729019	3	4	183	1	0	0	0	0	1	0	0	0	7669	536	19	1	916	1	IL20RB	3	136729019	Missense_Mutation	SNP	C	TCGA-G9-7510-01A-11D-2260-08	98561006	136729019	61293411	9	8560											
NDST4	64579	broad.mit.edu	37	chr4	115858527	115858527	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	ccgggcaggtttcagatgtgGatattcttcagtgctggtga	7	13	14	7	1	3	2	2	1	1	1	3	3	3	3	1	4	1	3	1	4	1	4			TCGA-G9-7510-01A-11D-2260-08	TCGA-G9-7510-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a7ebb7c-bb87-4bc6-8d42-00dffd9591e1	98899bed-24c3-494b-83c6-27e994e986c1	g.chr4:115858527G>C	ENST00000264363.2	-	5	2032	c.1354C>G	c.(1354-1356)Cca>Gca	p.P452A		NM_022569.1	NP_072091.1	Q9H3R1	NDST4_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4	452	Heparan sulfate N-deacetylase 4.				heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparin biosynthetic process (GO:0030210)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine N-sulfotransferase activity (GO:0015016)|deacetylase activity (GO:0019213)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	81		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000562)		TTCAGATGTGGATATTCTTCA	0.468																																						ENST00000264363.2																			0				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	81						c.(1354-1356)Cca>Gca		N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4							188	178	181					4																	115858527		2203	4300	6503	SO:0001583	missense	64579					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity	g.chr4:115858527G>C	AB036429	CCDS3706.1	4q26	2008-02-05			ENSG00000138653	ENSG00000138653		"Sulfotransferases, membrane-bound"	20779	protein-coding gene	gene with protein product		615039				11087757	Standard	NM_022569		Approved		uc003ibu.3	Q9H3R1	OTTHUMG00000132916	ENST00000264363.2:c.1354C>G	4.37:g.115858527G>C	ENSP00000264363:p.Pro452Ala						p.P452A	NM_022569.1	NP_072091.1	Q9H3R1	NDST4_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000562)	5	2032	-		Ovarian(17;0.156)	452			Heparan sulfate N-deacetylase 4.		Q2KHM8	Missense_Mutation	SNP	ENST00000264363.2	37	c.1354C>G	CCDS3706.1	.	.	.	.	.	.	.	.	.	.	G	29.8	5.033676	0.93575	.	.	ENSG00000138653	ENST00000264363	T	0.45668	0.89	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	T	0.73552	0.3601	M	0.91459	3.21	0.80722	D	1	D	0.76494	0.999	D	0.74674	0.984	T	0.79193	-0.1904	10	0.87932	D	0	.	19.9888	0.97358	0.0:0.0:1.0:0.0	.	452	Q9H3R1	NDST4_HUMAN	A	452	ENSP00000264363:P452A	ENSP00000264363:P452A	P	-	1	0	NDST4	116077976	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.856000	0.99531	2.704000	0.92352	0.655000	0.94253	CCA		0.468	NDST4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256427.1	NM_022569		6	73	0	0	0	1	0	6	73					C	115858527	G	C	115858527	3	2	183	1	0	0	0	0	1	0	0	0	10258	1174	41	5	1304	5	NDST4	4	115858527	Missense_Mutation	SNP	G	TCGA-G9-7510-01A-11D-2260-08		115858527	75295749	10	8561											
ZNF131	7690	broad.mit.edu	37	chr5	43174661	43174661	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tttgtggtttatgcaaggaaAtgaattaaggaggcatctca	13	13	11	4	0	1	1	1	1	1	0	2	3	1	3	0	4	1	3	0	4	5	4			TCGA-G9-7510-01A-11D-2260-08	TCGA-G9-7510-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a7ebb7c-bb87-4bc6-8d42-00dffd9591e1	98899bed-24c3-494b-83c6-27e994e986c1	g.chr5:43174661A>G	ENST00000399534.1	+	7	1342	c.1298A>G	c.(1297-1299)aAt>aGt	p.N433S	ZNF131_ENST00000306938.4_Missense_Mutation_p.N399S|ZNF131_ENST00000509156.1_Missense_Mutation_p.N433S|ZNF131_ENST00000509634.1_Missense_Mutation_p.N399S|ZNF131_ENST00000509931.1_Intron|ZNF131_ENST00000505606.2_Missense_Mutation_p.N399S			P52739	ZN131_HUMAN	zinc finger protein 131	433					regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	17						ATGCAAGGAAATGAATTAAGG	0.398																																						ENST00000509634.1																			0				breast(2)|endometrium(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	17						c.(1195-1197)aAt>aGt		zinc finger protein 131							94	86	88					5																	43174661		1889	4114	6003	SO:0001583	missense	7690					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr5:43174661A>G	U09410	CCDS43313.1	5p12	2013-01-09	2006-06-13		ENSG00000172262	ENSG00000172262		"Zinc fingers, C2H2-type", "-", "BTB/POZ domain containing"	12915	protein-coding gene	gene with protein product	"zinc finger and BTB domain containing 35"	604073	"zinc finger protein 131 (clone pHZ-10)"				Standard	XM_005248359		Approved	ZBTB35, pHZ-10	uc003jnk.3	P52739	OTTHUMG00000162223	ENST00000399534.1:c.1298A>G	5.37:g.43174661A>G	ENSP00000382450:p.Asn433Ser					ZNF131_ENST00000509931.1_Intron|ZNF131_ENST00000505606.2_Missense_Mutation_p.N399S|ZNF131_ENST00000306938.4_Missense_Mutation_p.N399S|ZNF131_ENST00000509156.1_Missense_Mutation_p.N433S|ZNF131_ENST00000399534.1_Missense_Mutation_p.N433S	p.N399S			P52739	ZN131_HUMAN			7	1652	+			433					B4DRL3|Q6PIF0	Missense_Mutation	SNP	ENST00000399534.1	37	c.1196A>G		.	.	.	.	.	.	.	.	.	.	A	6.532	0.466436	0.12402	.	.	ENSG00000172262	ENST00000509156;ENST00000306938;ENST00000399534;ENST00000505606;ENST00000509634	T;T;T;T;T	0.07114	3.22;3.22;3.22;3.22;3.22	5.61	5.61	0.85477	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.202328	0.52532	D	0.000067	T	0.02455	0.0075	N	0.02103	-0.685	0.30962	N	0.723533	B;B	0.13145	0.007;0.001	B;B	0.15052	0.012;0.002	T	0.34428	-0.9829	10	0.02654	T	1	-9.9541	6.0216	0.19632	0.7982:0.0:0.2018:0.0	.	433;399	P52739;P52739-2	ZN131_HUMAN;.	S	433;399;433;399;399	ENSP00000426504:N433S;ENSP00000305804:N399S;ENSP00000382450:N433S;ENSP00000423945:N399S;ENSP00000421246:N399S	ENSP00000305804:N399S	N	+	2	0	ZNF131	43210418	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.866000	0.56040	2.135000	0.66039	0.377000	0.23210	AAT		0.398	ZNF131-201	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000367982.1	NM_003432		11	72	0	0	0	1	0	11	72					G	43174661	A	G	43174661	3	3	183	1	0	0	0	0	1	0	0	0	17718	101	4	4	1222	4	ZNF131	5	43174661	Missense_Mutation	SNP	A	TCGA-G9-7510-01A-11D-2260-08		43174661	137740599	11	8562											
BDP1	55814	broad.mit.edu	37	chr5	70860624	70860624	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gaaagaaggatataaaagtgCccaaaagcgggcccctcaag	17	4	11	9	1	1	1	1	0	0	1	1	3	1	2	3	2	2	0	3	2	8	2			TCGA-G9-7510-01A-11D-2260-08	TCGA-G9-7510-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a7ebb7c-bb87-4bc6-8d42-00dffd9591e1	98899bed-24c3-494b-83c6-27e994e986c1	g.chr5:70860624C>T	ENST00000358731.4	+	39	8050	c.7787C>T	c.(7786-7788)gCc>gTc	p.A2596V	BDP1_ENST00000380675.2_3'UTR	NM_018429.2	NP_060899.2	A6H8Y1	BDP1_HUMAN	B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB	2596					gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase III promoter (GO:0006383)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)		TATAAAAGTGCCCAAAAGCGG	0.328																																						ENST00000358731.4																			0				NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72						c.(7786-7788)gCc>gTc		B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB							101	101	101					5																	70860624		1784	4059	5843	SO:0001583	missense	55814				regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding	g.chr5:70860624C>T	AF298151	CCDS43328.1	5q12-q13	2008-02-05	2001-11-29	2001-11-30	ENSG00000145734	ENSG00000145734			13652	protein-coding gene	gene with protein product		607012	"TATA box binding protein (TBP)-associated factor, RNA polymerase III, GTF3B subunit 1"	TFNR, TAF3B1		11214970, 11040218	Standard	NM_018429		Approved	TFIIIB150, TFC5, TFIIIB90, KIAA1689, HSA238520, KIAA1241	uc003kbp.1	A6H8Y1	OTTHUMG00000162506	ENST00000358731.4:c.7787C>T	5.37:g.70860624C>T	ENSP00000351575:p.Ala2596Val					BDP1_ENST00000380675.2_3'UTR	p.A2596V	NM_018429.2	NP_060899.2	A6H8Y1	BDP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)	39	8050	+		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)	2596					Q68DS6|Q68DY5|Q6MZL9|Q6PIM7|Q86W98|Q96LR8|Q9C0H4|Q9H197|Q9H1A1|Q9HAW1|Q9HAW2|Q9HCY0|Q9ULH9	Missense_Mutation	SNP	ENST00000358731.4	37	c.7787C>T	CCDS43328.1	.	.	.	.	.	.	.	.	.	.	C	6.059	0.379154	0.11466	.	.	ENSG00000145734	ENST00000358731	T	0.03717	3.83	5.65	1.11	0.20524	.	0.969547	0.08479	N	0.939833	T	0.01287	0.0042	N	0.00926	-1.1	0.48762	D	0.999708	B	0.06786	0.001	B	0.04013	0.001	T	0.44922	-0.9296	10	0.33141	T	0.24	.	1.8667	0.03200	0.1155:0.1548:0.3768:0.3529	.	2596	A6H8Y1	BDP1_HUMAN	V	2596	ENSP00000351575:A2596V	ENSP00000351575:A2596V	A	+	2	0	BDP1	70896380	0.016000	0.18221	0.704000	0.30370	0.298000	0.27526	-0.072000	0.11486	0.277000	0.22141	-0.147000	0.13772	GCC		0.328	BDP1-016	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000374681.2	NM_018429		6	50	0	0	0	1	0	6	50					T	70860624	C	T	70860624	3	4	183	1	0	0	0	0	1	0	0	0	1395	739	26	3	7941	3	BDP1	5	70860624	Missense_Mutation	SNP	C	TCGA-G9-7510-01A-11D-2260-08	27685963	70860624	110054636	12	8563											
TBC1D22B	55633	broad.mit.edu	37	chr6	37280704	37280704	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgttttacagaagaggatgtGgagaactttgacgtgaccaa	13	11	12	5	1	0	5	0	2	0	3	0	7	0	6	1	2	2	1	1	2	4	3			TCGA-G9-7510-01A-11D-2260-08	TCGA-G9-7510-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a7ebb7c-bb87-4bc6-8d42-00dffd9591e1	98899bed-24c3-494b-83c6-27e994e986c1	g.chr6:37280704G>C	ENST00000373491.3	+	9	1139	c.993G>C	c.(991-993)gtG>gtC	p.V331V		NM_017772.2	NP_060242.2	Q9NU19	TB22B_HUMAN	TBC1 domain family, member 22B	331	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.						Rab GTPase activator activity (GO:0005097)			breast(1)|endometrium(1)|large_intestine(2)|lung(10)|prostate(1)	15			OV - Ovarian serous cystadenocarcinoma(102;0.241)			AAGAGGATGTGGAGAACTTTG	0.438																																						ENST00000373491.3																			0				breast(1)|endometrium(1)|large_intestine(2)|lung(10)|prostate(1)	15						c.(991-993)gtG>gtC		TBC1 domain family, member 22B							115	108	110					6																	37280704		2203	4300	6503	SO:0001819	synonymous_variant	55633					intracellular	Rab GTPase activator activity	g.chr6:37280704G>C	AK096340	CCDS4832.1	6p21.2	2005-01-05	2005-01-05	2005-01-05	ENSG00000065491	ENSG00000065491			21602	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 197"	C6orf197			Standard	NM_017772		Approved	FLJ20337, dJ744I24.2	uc003onn.3	Q9NU19	OTTHUMG00000014619	ENST00000373491.3:c.993G>C	6.37:g.37280704G>C							p.V331V	NM_017772.2	NP_060242.2	Q9NU19	TB22B_HUMAN	OV - Ovarian serous cystadenocarcinoma(102;0.241)		9	1139	+			331			Rab-GAP TBC.		A8KA28|Q32MQ8|Q5VUK9|Q6P4C3|Q7Z6P7|Q9BPV6|Q9BUT5|Q9NXB6	Silent	SNP	ENST00000373491.3	37	c.993G>C	CCDS4832.1																																																																																				0.438	TBC1D22B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040402.1	NM_017772		3	43	0	0	0	1	0	3	43					C	37280704	G	C	37280704	2	2	183	1	0	0	0	0	0	0	0	1	15609	1335	47	5		5	TBC1D22B	6	37280704	Silent	SNP	G	TCGA-G9-7510-01A-11D-2260-08		37280704	133834363	13	8564											
HSP90AB1	3326	broad.mit.edu	37	chr6	44218061	44218061	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gagagaaggaaattagtgatGatgaggcagaggaagagaaa	19	5	16	1	0	0	6	0	3	0	3	0	11	0	8	0	3	0	1	0	3	5	1			TCGA-G9-7510-01A-11D-2260-08	TCGA-G9-7510-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a7ebb7c-bb87-4bc6-8d42-00dffd9591e1	98899bed-24c3-494b-83c6-27e994e986c1	g.chr6:44218061G>A	ENST00000371554.1	+	6	896	c.682G>A	c.(682-684)Gat>Aat	p.D228N	HSP90AB1_ENST00000353801.3_Missense_Mutation_p.D228N|HSP90AB1_ENST00000371646.5_Missense_Mutation_p.D228N			P08238	HS90B_HUMAN	heat shock protein 90kDa alpha (cytosolic), class B member 1	228					axon guidance (GO:0007411)|cellular response to interleukin-4 (GO:0071353)|cellular response to organic cyclic compound (GO:0071407)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|placenta development (GO:0001890)|positive regulation of cell size (GO:0045793)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of protein binding (GO:0032092)|positive regulation of protein import into nucleus, translocation (GO:0033160)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|protein folding (GO:0006457)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to salt stress (GO:0009651)|response to unfolded protein (GO:0006986)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|inclusion body (GO:0016234)|membrane (GO:0016020)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|CTP binding (GO:0002135)|dATP binding (GO:0032564)|double-stranded RNA binding (GO:0003725)|GTP binding (GO:0005525)|MHC class II protein complex binding (GO:0023026)|nitric-oxide synthase regulator activity (GO:0030235)|poly(A) RNA binding (GO:0044822)|TPR domain binding (GO:0030911)|UTP binding (GO:0002134)			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(12)|prostate(2)|skin(2)|urinary_tract(2)	33	all_cancers(18;1.7e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			aattagtgatgatgaggcaga	0.423																																						ENST00000371554.1																			0				NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(12)|prostate(2)|skin(2)|urinary_tract(2)	33						c.(682-684)Gat>Aat		heat shock protein 90kDa alpha (cytosolic), class B member 1							66	69	68					6																	44218061		2202	4300	6502	SO:0001583	missense	3326				axon guidance|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of nitric oxide biosynthetic process|protein folding|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to unfolded protein	cytosol|melanosome	ATP binding|nitric-oxide synthase regulator activity|TPR domain binding|unfolded protein binding	g.chr6:44218061G>A	AF275719	CCDS4909.1	6p12	2011-09-02	2006-02-24	2006-02-24	ENSG00000096384	ENSG00000096384		"Heat shock proteins / HSPC"	5258	protein-coding gene	gene with protein product		140572	"heat shock 90kD protein 1, beta", "heat shock 90kDa protein 1, beta"	HSPC2, HSPCB		2768249, 16269234	Standard	NM_001271969		Approved		uc031sor.1	P08238	OTTHUMG00000014761	ENST00000371554.1:c.682G>A	6.37:g.44218061G>A	ENSP00000360609:p.Asp228Asn					HSP90AB1_ENST00000353801.3_Missense_Mutation_p.D228N|HSP90AB1_ENST00000371646.5_Missense_Mutation_p.D228N	p.D228N			P08238	HS90B_HUMAN	Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		6	896	+	all_cancers(18;1.7e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		228					B2R5P0|Q5T9W7|Q9NQW0|Q9NTK6	Missense_Mutation	SNP	ENST00000371554.1	37	c.682G>A	CCDS4909.1	.	.	.	.	.	.	.	.	.	.	G	29.6	5.020376	0.93462	.	.	ENSG00000096384	ENST00000371646;ENST00000353801;ENST00000371554	T;T;T	0.11385	2.78;2.78;2.78	4.2	4.2	0.49525	.	0.147090	0.42682	U	0.000671	T	0.09468	0.0233	N	0.16567	0.415	0.80722	D	1	D;B;P	0.60575	0.988;0.284;0.942	P;B;P	0.58266	0.836;0.13;0.679	T	0.22173	-1.0224	10	0.87932	D	0	-29.1574	16.1708	0.81812	0.0:0.0:1.0:0.0	.	190;218;228	B4DMA2;B4DGL0;P08238	.;.;HS90B_HUMAN	N	228	ENSP00000360709:D228N;ENSP00000325875:D228N;ENSP00000360609:D228N	ENSP00000325875:D228N	D	+	1	0	HSP90AB1	44326039	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	9.773000	0.98989	1.905000	0.55150	0.460000	0.39030	GAT		0.423	HSP90AB1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040730.1	NM_007355		6	48	0	0	0	1	0	6	48					A	44218061	G	A	44218061	3	1	183	1	0	0	0	0	1	0	0	0	7402	1290	45	3	700	3	HSP90AB1	6	44218061	Missense_Mutation	SNP	G	TCGA-G9-7510-01A-11D-2260-08	6937357	44218061	126897006	14	8565											
TRDN	10345	broad.mit.edu	37	chr6	123833489	123833490	+	Frame_Shift_Ins	INS	-	-	T																															tggtttttcttttttctcaaINSttttttccttgtgagttgct																										TCGA-G9-7510-01A-11D-2260-08	TCGA-G9-7510-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a7ebb7c-bb87-4bc6-8d42-00dffd9591e1	98899bed-24c3-494b-83c6-27e994e986c1	g.chr6:123833489_123833490insT	ENST00000398178.3	-	7	589_590	c.568_569insA	c.(568-570)attfs	p.I190fs	TRDN_ENST00000546248.1_Frame_Shift_Ins_p.I190fs|TRDN_ENST00000334268.4_Frame_Shift_Ins_p.I190fs	NM_006073.3	NP_006064.2	Q13061	TRDN_HUMAN	triadin	190					cellular calcium ion homeostasis (GO:0006874)|cytoplasmic microtubule organization (GO:0031122)|endoplasmic reticulum membrane organization (GO:0090158)|heart contraction (GO:0060047)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|myotube differentiation (GO:0014902)|negative regulation of ryanodine-sensitive calcium-release channel activity (GO:0060315)|positive regulation of cell communication by electrical coupling involved in cardiac conduction (GO:1901846)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cell communication by electrical coupling (GO:0010649)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to organic cyclic compound (GO:0014070)|transmembrane transport (GO:0055085)	calcium channel complex (GO:0034704)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum lumen (GO:0033018)|sarcoplasmic reticulum membrane (GO:0033017)	ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|protein homodimerization activity (GO:0042803)			NS(1)|endometrium(1)|kidney(1)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	41				GBM - Glioblastoma multiforme(226;0.184)		TTTTTTCTCAATTTTTTCCTTG	0.272																																						ENST00000334268.4																			0				NS(1)|endometrium(1)|kidney(1)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	41						c.(568-570)tgafs		triadin																																				SO:0001589	frameshift_variant	10345				muscle contraction	integral to membrane|plasma membrane|sarcoplasmic reticulum membrane	receptor binding	g.chr6:123833489_123833490insT	U18985	CCDS59035.1, CCDS75511.1	6q22.31	2008-05-15			ENSG00000186439	ENSG00000186439			12261	protein-coding gene	gene with protein product		603283				7588753	Standard	NM_001251987		Approved		uc003pzj.2	Q13061	OTTHUMG00000015497	ENST00000398178.3:c.569dupA	6.37:g.123833495_123833495dupT	ENSP00000381240:p.Ile190fs					TRDN_ENST00000546248.1_Frame_Shift_Ins_p.*190fs|TRDN_ENST00000398178.3_Frame_Shift_Ins_p.*190fs	p.*190fs			Q13061	TRDN_HUMAN		GBM - Glioblastoma multiforme(226;0.184)	7	885_886	-			190					A5D6W5|F5H2W7|Q6NSB8	Frame_Shift_Ins	INS	ENST00000398178.3	37	c.568_569insA	CCDS55053.1																																																																																				0.272	TRDN-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding				2	4						2	4	---	---	---	---	T	123833490	-	T	123833489	7	5	183	1	0	1	1	0	0	0	0	0	16465	101	4	0	1760	0	TRDN	6	123833489	Frame_Shift_Ins	INS	-	TCGA-G9-7510-01A-11D-2260-08	79615428	123833489	47281578	15	8566											
C7orf27	221927	broad.mit.edu	37	chr7	2583249	2583249	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacacagagaagcaggtccaCgaacgagtgtgcggcgggga	12	3	16	10	4	0	1	0	0	0	1	1	5	1	2	1	4	3	1	1	4	2	0			TCGA-G9-7510-01A-11D-2260-08	TCGA-G9-7510-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a7ebb7c-bb87-4bc6-8d42-00dffd9591e1	98899bed-24c3-494b-83c6-27e994e986c1	g.chr7:2583249C>T	ENST00000340611.4	-	5	1034	c.778G>A	c.(778-780)Gtg>Atg	p.V260M	BRAT1_ENST00000473879.1_5'Flank	NM_152743.3	NP_689956.2	Q6PJG6	BRAT1_HUMAN	BRCA1-associated ATM activator 1	260					response to ionizing radiation (GO:0010212)	membrane (GO:0016020)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	23						AGCAGGTCCACGAACGAGTGT	0.687																																						ENST00000340611.4																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	23						c.(778-780)Gtg>Atg		BRCA1-associated ATM activator 1							34	44	40					7																	2583249		2195	4287	6482	SO:0001583	missense	221927				response to ionizing radiation	nucleus	protein binding	g.chr7:2583249C>T	BC015632	CCDS5334.1	7p22.3	2011-03-22	2011-02-28	2011-03-22	ENSG00000106009	ENSG00000106009			21701	protein-coding gene	gene with protein product	"BRCA1-associated protein required for ATM activation protein 1"	614506	"chromosome 7 open reading frame 27"	C7orf27, BAAT1		16452482	Standard	NM_152743		Approved	MGC22916	uc003smi.3	Q6PJG6	OTTHUMG00000119091	ENST00000340611.4:c.778G>A	7.37:g.2583249C>T	ENSP00000339637:p.Val260Met						p.V260M	NM_152743.3	NP_689956.2	Q6PJG6	BRAT1_HUMAN			5	1034	-			260					A4D200|C9JY24|Q8IW85|Q8IZ43|Q8WVR8|Q96IV9|Q9H7J8|Q9UFA3	Missense_Mutation	SNP	ENST00000340611.4	37	c.778G>A	CCDS5334.1	.	.	.	.	.	.	.	.	.	.	C	8.097	0.775846	0.16051	.	.	ENSG00000106009	ENST00000340611	D	0.90676	-2.71	5.71	2.84	0.33178	Armadillo-type fold (1);	0.380167	0.31772	N	0.007098	T	0.80199	0.4579	L	0.42245	1.32	0.09310	N	1	P;P	0.43938	0.777;0.822	B;B	0.29267	0.1;0.074	T	0.68812	-0.5310	10	0.22706	T	0.39	-10.5011	6.357	0.21406	0.1473:0.6985:0.0:0.1542	.	260;260	Q6PJG6-2;Q6PJG6	.;BRAT1_HUMAN	M	260	ENSP00000339637:V260M	ENSP00000339637:V260M	V	-	1	0	BRAT1	2549775	0.013000	0.17824	0.044000	0.18714	0.663000	0.39108	1.212000	0.32394	0.301000	0.22738	0.655000	0.94253	GTG		0.687	BRAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239305.2	NM_152743		12	93	0	0	0	1	0	12	93					T	2583249	C	T	2583249	3	4	183	1	0	0	0	0	1	0	0	0	2382	536	19	1	1727	1	C7orf27	7	2583249	Missense_Mutation	SNP	C	TCGA-G9-7510-01A-11D-2260-08		2583249	156555414	16	8567											
ZNRF2	223082	broad.mit.edu	37	chr7	30395399	30395399	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atatgccttgaagaattgcaGcagggagatactatagcacg	14	9	11	7	1	0	3	0	1	0	2	0	4	0	3	1	1	5	3	1	1	6	6			TCGA-G9-7510-01A-11D-2260-08	TCGA-G9-7510-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a7ebb7c-bb87-4bc6-8d42-00dffd9591e1	98899bed-24c3-494b-83c6-27e994e986c1	g.chr7:30395399G>A	ENST00000323037.4	+	3	1672	c.621G>A	c.(619-621)caG>caA	p.Q207Q		NM_147128.3	NP_667339.1	Q8NHG8	ZNRF2_HUMAN	zinc and ring finger 2	207						cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|endosome (GO:0005768)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|synapse (GO:0045202)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|lung(2)|prostate(1)	5						AAGAATTGCAGCAGGGAGATA	0.373																																						ENST00000323037.4																			0				breast(1)|endometrium(1)|lung(2)|prostate(1)	5						c.(619-621)caG>caA		zinc and ring finger 2							165	147	153					7																	30395399		2203	4300	6503	SO:0001819	synonymous_variant	223082					cell junction|endosome membrane|lysosomal membrane|presynaptic membrane	ligase activity|zinc ion binding	g.chr7:30395399G>A	AF513707	CCDS5426.1	7p15.1	2013-01-09			ENSG00000180233	ENSG00000180233		"RING-type (C3HC4) zinc fingers"	22316	protein-coding gene	gene with protein product		612061					Standard	NM_147128		Approved	RNF202	uc003tat.3	Q8NHG8	OTTHUMG00000097759	ENST00000323037.4:c.621G>A	7.37:g.30395399G>A							p.Q207Q	NM_147128.3	NP_667339.1	Q8NHG8	ZNRF2_HUMAN			3	1672	+			207						Silent	SNP	ENST00000323037.4	37	c.621G>A	CCDS5426.1																																																																																				0.373	ZNRF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214992.1	NM_147128		3	110	0	0	0	1	0	3	110					A	30395399	G	A	30395399	2	1	183	1	0	0	0	0	0	0	0	1	18209	962	34	3		3	ZNRF2	7	30395399	Silent	SNP	G	TCGA-G9-7510-01A-11D-2260-08	27812150	30395399	128743264	17	8568											
CSGALNACT1	55790	broad.mit.edu	37	chr8	19316028	19316028	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gttggccatgttgagcttttCatttttcactttcatgatgg	6	19	9	7	0	3	2	3	2	0	0	3	2	3	2	1	2	1	3	1	2	0	7			TCGA-G9-7510-01A-11D-2260-08	TCGA-G9-7510-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a7ebb7c-bb87-4bc6-8d42-00dffd9591e1	98899bed-24c3-494b-83c6-27e994e986c1	g.chr8:19316028C>T	ENST00000454498.2	-	5	1773	c.760G>A	c.(760-762)Gaa>Aaa	p.E254K	CSGALNACT1_ENST00000332246.6_Missense_Mutation_p.E254K|CSGALNACT1_ENST00000518542.1_5'UTR|CSGALNACT1_ENST00000311540.4_Missense_Mutation_p.E254K|CSGALNACT1_ENST00000544602.1_Missense_Mutation_p.E254K|CSGALNACT1_ENST00000522854.1_Missense_Mutation_p.E254K	NM_001130518.1	NP_001123990.1	Q8TDX6	CGAT1_HUMAN	chondroitin sulfate N-acetylgalactosaminyltransferase 1	254					anatomical structure morphogenesis (GO:0009653)|carbohydrate metabolic process (GO:0005975)|cartilage development (GO:0051216)|cell proliferation (GO:0008283)|cell recognition (GO:0008037)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|chondroitin sulfate proteoglycan biosynthetic process (GO:0050650)|chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process (GO:0050653)|dermatan sulfate proteoglycan biosynthetic process (GO:0050651)|endochondral ossification (GO:0001958)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process (GO:0015014)|heparin biosynthetic process (GO:0030210)|nervous system development (GO:0007399)|proteoglycan biosynthetic process (GO:0030166)|small molecule metabolic process (GO:0044281)|UDP-glucuronate metabolic process (GO:0046398)|UDP-N-acetylgalactosamine metabolic process (GO:0019276)	Golgi cisterna membrane (GO:0032580)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)|intracellular (GO:0005622)	acetylgalactosaminyltransferase activity (GO:0008376)|glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity (GO:0047238)|glucuronosyltransferase activity (GO:0015020)|glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity (GO:0047237)|metal ion binding (GO:0046872)|peptidoglycan glycosyltransferase activity (GO:0008955)			NS(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31				Colorectal(111;0.182)		TTGAGCTTTTCATTTTTCACT	0.448																																						ENST00000454498.2																			0				NS(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						c.(760-762)Gaa>Aaa		chondroitin sulfate N-acetylgalactosaminyltransferase 1							361	333	343					8																	19316028		2203	4300	6503	SO:0001583	missense	55790				anatomical structure morphogenesis|cell proliferation|cell recognition|chondroitin sulfate biosynthetic process|chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|dermatan sulfate proteoglycan biosynthetic process|extracellular matrix organization|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|heparin biosynthetic process|nervous system development|UDP-glucuronate metabolic process|UDP-N-acetylgalactosamine metabolic process	Golgi cisterna membrane|integral to Golgi membrane|soluble fraction	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|glucuronosyltransferase activity|glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|peptidoglycan glycosyltransferase activity	g.chr8:19316028C>T	AK002126	CCDS6010.1	8p21.3	2013-02-19				ENSG00000147408		"Beta 4-glycosyltransferases"	24290	protein-coding gene	gene with protein product	"chondroitin beta1,4 N-acetylgalactosaminyltransferase"					17145758, 12446672	Standard	NM_018371		Approved	CSGalNAcT-1, FLJ11264, ChGn	uc011kyo.2	Q8TDX6		ENST00000454498.2:c.760G>A	8.37:g.19316028C>T	ENSP00000411816:p.Glu254Lys					CSGALNACT1_ENST00000522854.1_Missense_Mutation_p.E254K|CSGALNACT1_ENST00000544602.1_Missense_Mutation_p.E254K|CSGALNACT1_ENST00000332246.6_Missense_Mutation_p.E254K|CSGALNACT1_ENST00000518542.1_5'UTR|CSGALNACT1_ENST00000311540.4_Missense_Mutation_p.E254K	p.E254K	NM_001130518.1	NP_001123990.1	Q8TDX6	CGAT1_HUMAN		Colorectal(111;0.182)	5	1773	-			254					B2RBE4|Q6P9G6|Q8IUF9|Q9NSQ7|Q9NUM9	Missense_Mutation	SNP	ENST00000454498.2	37	c.760G>A	CCDS6010.1	.	.	.	.	.	.	.	.	.	.	C	29.8	5.035021	0.93575	.	.	ENSG00000147408	ENST00000454498;ENST00000332246;ENST00000311540;ENST00000522854;ENST00000544602	T;T;T;T;T	0.15372	2.43;2.43;2.43;2.43;2.43	5.61	5.61	0.85477	.	0.043062	0.85682	N	0.000000	T	0.45955	0.1368	M	0.86573	2.825	0.80722	D	1	D	0.59767	0.986	D	0.65323	0.934	T	0.34925	-0.9809	10	0.23302	T	0.38	-40.051	18.5627	0.91107	0.0:1.0:0.0:0.0	.	254	Q8TDX6	CGAT1_HUMAN	K	254	ENSP00000411816:E254K;ENSP00000330805:E254K;ENSP00000310891:E254K;ENSP00000429809:E254K;ENSP00000442155:E254K	ENSP00000310891:E254K	E	-	1	0	CSGALNACT1	19360308	1.000000	0.71417	0.614000	0.29051	0.782000	0.44232	5.691000	0.68249	2.813000	0.96785	0.655000	0.94253	GAA		0.448	CSGALNACT1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375204.1	NM_018371		13	229	0	0	0	1	0	13	229					T	19316028	C	T	19316028	3	4	183	1	0	0	0	0	1	0	0	0	3938	835	29	3	862	3	CSGALNACT1	8	19316028	Missense_Mutation	SNP	C	TCGA-G9-7510-01A-11D-2260-08		19316028	127047994	18	8569											
EXTL3	2137	broad.mit.edu	37	chr8	28574584	28574584	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaaatcccaccacaggtgccGgtgaagcggaaatatctctt	12	8	10	11	2	1	1	0	1	1	0	3	3	2	2	3	3	2	0	3	3	4	2			TCGA-G9-7510-01A-11D-2260-08	TCGA-G9-7510-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a7ebb7c-bb87-4bc6-8d42-00dffd9591e1	98899bed-24c3-494b-83c6-27e994e986c1	g.chr8:28574584G>A	ENST00000220562.4	+	3	1910	c.1008G>A	c.(1006-1008)ccG>ccA	p.P336P	EXTL3_ENST00000523149.1_Intron|EXTL3_ENST00000519886.1_Intron	NM_001440.2	NP_001431.1	O43909	EXTL3_HUMAN	exostosin-like glycosyltransferase 3	336					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|positive regulation of cell growth (GO:0030307)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)	glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity (GO:0001888)|metal ion binding (GO:0046872)			biliary_tract(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(8)|ovary(1)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(1)	36		Ovarian(32;0.069)		KIRC - Kidney renal clear cell carcinoma(542;0.107)|Kidney(114;0.129)|Colorectal(74;0.228)		CACAGGTGCCGGTGAAGCGGA	0.547																																						ENST00000220562.4																			0				biliary_tract(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(8)|ovary(1)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(1)	36						c.(1006-1008)ccG>ccA		exostosin-like glycosyltransferase 3							88	82	84					8																	28574584		2203	4300	6503	SO:0001819	synonymous_variant	2137					integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|metal ion binding|protein binding	g.chr8:28574584G>A	U76188	CCDS6070.1	8p22-p12	2013-03-01	2013-03-01		ENSG00000012232	ENSG00000012232	2.4.1.223	"Exostosin glycosyltransferase family"	3518	protein-coding gene	gene with protein product	"REG receptor", "glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase"	605744	"exostoses (multiple)-like 3"			9479495, 9450183, 11257457	Standard	NM_001440		Approved	botv, REGR	uc003xgz.2	O43909	OTTHUMG00000102146	ENST00000220562.4:c.1008G>A	8.37:g.28574584G>A						EXTL3_ENST00000519886.1_Intron|EXTL3_ENST00000523149.1_Intron	p.P336P	NM_001440.2	NP_001431.1	O43909	EXTL3_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.107)|Kidney(114;0.129)|Colorectal(74;0.228)	3	1910	+		Ovarian(32;0.069)	336					D3DST8|O00225|Q53XT3	Silent	SNP	ENST00000220562.4	37	c.1008G>A	CCDS6070.1																																																																																				0.547	EXTL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219987.3	NM_001440		4	43	0	0	0	1	0	4	43					A	28574584	G	A	28574584	2	1	183	1	0	0	0	0	0	0	0	1	5327	1103	39	2		2	EXTL3	8	28574584	Silent	SNP	G	TCGA-G9-7510-01A-11D-2260-08	9258556	28574584	117789438	19	8570											
RAB11FIP1	80223	broad.mit.edu	37	chr8	37732517	37732517	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtggaagattcggagagctGcctgtcagaagacagcccac	11	6	14	10	1	1	4	1	0	0	4	2	6	1	5	2	3	3	1	2	3	2	1			TCGA-G9-7510-01A-11D-2260-08	TCGA-G9-7510-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a7ebb7c-bb87-4bc6-8d42-00dffd9591e1	98899bed-24c3-494b-83c6-27e994e986c1	g.chr8:37732517G>T	ENST00000330843.4	-	3	1150	c.1138C>A	c.(1138-1140)Cag>Aag	p.Q380K	RAB11FIP1_ENST00000523182.1_5'Flank|RAB11FIP1_ENST00000287263.4_Missense_Mutation_p.Q380K|RAB11FIP1_ENST00000522727.1_Missense_Mutation_p.Q232K|RAB11FIP1_ENST00000524118.1_Missense_Mutation_p.Q232K	NM_001002814.2	NP_001002814.2	Q6WKZ4	RFIP1_HUMAN	RAB11 family interacting protein 1 (class I)	380				QL -> DV (in Ref. 1; AAM09571). {ECO:0000305}.	protein transport (GO:0015031)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)				NS(1)|breast(1)|central_nervous_system(4)|endometrium(3)|large_intestine(6)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	49		Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;3.62e-11)			TCGGAGAGCTGCCTGTCAGAA	0.562																																						ENST00000330843.4																			0				NS(1)|breast(1)|central_nervous_system(4)|endometrium(3)|large_intestine(6)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	49						c.(1138-1140)Cag>Aag		RAB11 family interacting protein 1 (class I)							64	65	64					8																	37732517		2203	4300	6503	SO:0001583	missense	80223				protein transport	centrosome|phagocytic vesicle membrane|recycling endosome	protein binding	g.chr8:37732517G>T	AK092296	CCDS34881.1, CCDS34882.1	8p11.22	2005-10-04			ENSG00000156675	ENSG00000156675			30265	protein-coding gene	gene with protein product		608737				11786538, 11495908	Standard	NM_001002814		Approved	RCP, FLJ22622, FLJ22524, Rab11-FIP1	uc003xkm.2	Q6WKZ4	OTTHUMG00000164026	ENST00000330843.4:c.1138C>A	8.37:g.37732517G>T	ENSP00000331342:p.Gln380Lys					RAB11FIP1_ENST00000287263.4_Missense_Mutation_p.Q380K|RAB11FIP1_ENST00000522727.1_Missense_Mutation_p.Q232K|RAB11FIP1_ENST00000524118.1_Missense_Mutation_p.Q232K	p.Q380K	NM_001002814.2	NP_001002814.2	Q6WKZ4	RFIP1_HUMAN	LUSC - Lung squamous cell carcinoma(8;3.62e-11)		3	1150	-		Lung NSC(58;0.118)|all_lung(54;0.195)	380	QL -> DV (in Ref. 1; AAM09571).				J3KNP0|Q307T1|Q6AZK4|Q6WKZ2|Q6WKZ6|Q86YV4|Q8TDL1|Q9H642	Missense_Mutation	SNP	ENST00000330843.4	37	c.1138C>A	CCDS34882.1	.	.	.	.	.	.	.	.	.	.	G	0.008	-1.872042	0.00542	.	.	ENSG00000156675	ENST00000287263;ENST00000330843;ENST00000522727;ENST00000524118	T;T;T;T	0.29142	2.33;2.78;1.59;1.58	4.43	-4.73	0.03259	.	2.275330	0.01684	N	0.026305	T	0.12561	0.0305	N	0.14661	0.345	0.09310	N	1	B;B;B;B	0.09022	0.001;0.001;0.002;0.0	B;B;B;B	0.10450	0.001;0.002;0.005;0.001	T	0.16808	-1.0390	10	0.06365	T	0.9	1.6392	0.5967	0.00737	0.2383:0.3175:0.1678:0.2765	.	232;232;380;380	E7EX40;Q6WKZ4-2;Q6WKZ4-3;Q6WKZ4	.;.;.;RFIP1_HUMAN	K	380;380;232;232	ENSP00000287263:Q380K;ENSP00000331342:Q380K;ENSP00000430009:Q232K;ENSP00000430680:Q232K	ENSP00000287263:Q380K	Q	-	1	0	RAB11FIP1	37851675	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	-0.508000	0.06344	-1.129000	0.02918	-0.261000	0.10672	CAG		0.562	RAB11FIP1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000376816.1	NM_025151		3	44	1	0	1	1	1	3	44					T	37732517	G	T	37732517	3	4	183	1	0	0	0	0	1	0	0	0	12893	1328	46	5	2729	5	RAB11FIP1	8	37732517	Missense_Mutation	SNP	G	TCGA-G9-7510-01A-11D-2260-08	9157933	37732517	108631505	20	8571											
KCNS2	3788	broad.mit.edu	37	chr8	99440615	99440615	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccgagcaggagaagtgggaCgagcagagtgaccaggagag	13	2	18	8	2	0	4	0	1	0	3	0	9	0	5	2	3	2	2	2	3	1	0			TCGA-G9-7510-01A-11D-2260-08	TCGA-G9-7510-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a7ebb7c-bb87-4bc6-8d42-00dffd9591e1	98899bed-24c3-494b-83c6-27e994e986c1	g.chr8:99440615C>T	ENST00000287042.4	+	2	758	c.408C>T	c.(406-408)gaC>gaT	p.D136D	KCNS2_ENST00000521839.1_Silent_p.D136D	NM_020697.2	NP_065748.1	Q9ULS6	KCNS2_HUMAN	potassium voltage-gated channel, delayed-rectifier, subfamily S, member 2	136					protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)			autonomic_ganglia(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	31	Breast(36;2.4e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.0448)			AGAAGTGGGACGAGCAGAGTG	0.567																																					Pancreas(138;844 2489 9202 24627)	ENST00000287042.4																			0				autonomic_ganglia(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	31						c.(406-408)gaC>gaT		potassium voltage-gated channel, delayed-rectifier, subfamily S, member 2							97	105	102					8																	99440615		2203	4300	6503	SO:0001819	synonymous_variant	3788					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr8:99440615C>T	AB032970	CCDS6279.1	8q22	2011-07-05			ENSG00000156486	ENSG00000156486		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6301	protein-coding gene	gene with protein product		602906				9305895, 16382104	Standard	NM_020697		Approved	Kv9.2	uc003yin.3	Q9ULS6	OTTHUMG00000044337	ENST00000287042.4:c.408C>T	8.37:g.99440615C>T						KCNS2_ENST00000521839.1_Silent_p.D136D	p.D136D	NM_020697.2	NP_065748.1	Q9ULS6	KCNS2_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.0448)		2	758	+	Breast(36;2.4e-06)		136					A8KAN1	Silent	SNP	ENST00000287042.4	37	c.408C>T	CCDS6279.1																																																																																				0.567	KCNS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103134.1	NM_020697		3	50	0	0	0	1	0	3	50					T	99440615	C	T	99440615	2	4	183	1	0	0	0	0	0	0	0	1	8089	535	19	1		1	KCNS2	8	99440615	Silent	SNP	C	TCGA-G9-7510-01A-11D-2260-08	61708098	99440615	46923407	21	8572											
CYP11B2	1585	broad.mit.edu	37	chr8	143995679	143995679	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ggggctggttgctggcctgaCcgtgtccacgctccctgcag	3	9	15	14	2	0	1	0	1	0	0	2	1	2	1	4	4	2	5	4	4	0	1			TCGA-G9-7510-01A-11D-2260-08	TCGA-G9-7510-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a7ebb7c-bb87-4bc6-8d42-00dffd9591e1	98899bed-24c3-494b-83c6-27e994e986c1	g.chr8:143995679C>T	ENST00000323110.2	-	5	957		c.e5+1			NM_000498.3	NP_000489.3	P19099	C11B2_HUMAN	cytochrome P450, family 11, subfamily B, polypeptide 2						aldosterone biosynthetic process (GO:0032342)|C21-steroid hormone biosynthetic process (GO:0006700)|cellular response to hormone stimulus (GO:0032870)|cellular response to potassium ion (GO:0035865)|cortisol biosynthetic process (GO:0034651)|mineralocorticoid biosynthetic process (GO:0006705)|potassium ion homeostasis (GO:0055075)|regulation of blood volume by renal aldosterone (GO:0002017)|renal water homeostasis (GO:0003091)|small molecule metabolic process (GO:0044281)|sodium ion homeostasis (GO:0055078)|steroid metabolic process (GO:0008202)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	corticosterone 18-monooxygenase activity (GO:0047783)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|steroid 11-beta-monooxygenase activity (GO:0004507)			cervix(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(22)|ovary(3)|upper_aerodigestive_tract(3)	39	all_cancers(97;5.56e-11)|all_epithelial(106;2.49e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Eplerenone(DB00700)|Etomidate(DB00292)|Hydrocortisone(DB00741)|Metoclopramide(DB01233)|Metyrapone(DB01011)|Spironolactone(DB00421)	GCTGGCCTGACCGTGTCCACG	0.622									Familial Hyperaldosteronism type I																													ENST00000323110.2																			0				cervix(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(22)|ovary(3)|upper_aerodigestive_tract(3)	39						c.e5+1		cytochrome P450, family 11, subfamily B, polypeptide 2	Candesartan(DB00796)|Metyrapone(DB01011)						124	107	112					8																	143995679		2203	4300	6503	SO:0001630	splice_region_variant	1585	Familial Hyperaldosteronism type I	Familial Cancer Database	Dexamethasone Sensitive Aldosteronism, FH-I	aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|potassium ion homeostasis|regulation of blood volume by renal aldosterone|sodium ion homeostasis|xenobiotic metabolic process		corticosterone 18-monooxygenase activity|electron carrier activity|steroid 11-beta-monooxygenase activity	g.chr8:143995679C>T	X54741	CCDS6393.1	8q21-q22	2013-06-19	2003-01-14		ENSG00000179142	ENSG00000179142	1.14.15.4	"Cytochrome P450s"	2592	protein-coding gene	gene with protein product	"steroid 11-beta-monooxygenase"	124080	"cytochrome P450, subfamily XIB (steroid 11-beta-hydroxylase), polypeptide 2"	CYP11B		1303253	Standard	NM_000498		Approved	CYP11BL, CPN2, P-450C18, P450aldo, ALDOS	uc003yxk.1	P19099	OTTHUMG00000160254	ENST00000323110.2:c.954+1G>A	8.37:g.143995679C>T								NM_000498.3	NP_000489.3	P19099	C11B2_HUMAN			5	957	-	all_cancers(97;5.56e-11)|all_epithelial(106;2.49e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)							B0ZBE4|Q16726	Splice_Site	SNP	ENST00000323110.2	37		CCDS6393.1	.	.	.	.	.	.	.	.	.	.	c	15.35	2.808025	0.50421	.	.	ENSG00000179142	ENST00000323110	.	.	.	3.83	3.83	0.44106	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.2748	0.60182	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CYP11B2	143992681	1.000000	0.71417	1.000000	0.80357	0.614000	0.37383	5.844000	0.69430	1.977000	0.57605	0.313000	0.20887	.		0.622	CYP11B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359904.1		Intron	4	46	0	0	0	1	0	4	46					T	143995679	C	T	143995679	5	4	183	1	0	0	0	0	0	0	1	0	4146	521	18	3	576	3	CYP11B2	8	143995679	Splice_Site	SNP	C	TCGA-G9-7510-01A-11D-2260-08	44555064	143995679	2368343	22	8573											
KIAA1529	100499483	broad.mit.edu	37	chr9	100080777	100080777	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cagtgagagtatccatactcCcccggctgtgacgaaggagc	10	7	12	12	2	0	2	0	2	0	1	2	5	2	3	3	2	2	2	3	2	3	2			TCGA-G9-7510-01A-11D-2260-08	TCGA-G9-7510-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a7ebb7c-bb87-4bc6-8d42-00dffd9591e1	98899bed-24c3-494b-83c6-27e994e986c1	g.chr9:100080777C>T	ENST00000357054.1	+	24	2476	c.1541C>T	c.(1540-1542)cCc>cTc	p.P514L	CCDC180_ENST00000529487.1_Missense_Mutation_p.P375L|RP11-23J9.4_ENST00000534123.1_RNA|CCDC180_ENST00000460482.2_3'UTR|CCDC180_ENST00000375202.2_Missense_Mutation_p.P375L|CCDC180_ENST00000395220.1_Intron|CCDC180_ENST00000411667.2_Missense_Mutation_p.P372L			Q9P1Z9	CC180_HUMAN	coiled-coil domain containing 180	514						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)											ATCCATACTCCCCCGGCTGTG	0.572																																						ENST00000375202.2																			0											c.(1123-1125)cCc>cTc		coiled-coil domain containing 180							82	64	70					9																	100080777		2203	4300	6503	SO:0001583	missense	100499483							g.chr9:100080777C>T	AK123391	CCDS35077.1, CCDS35077.2	9q22.33	2013-03-08	2013-03-08	2013-03-08		ENSG00000197816			29303	protein-coding gene	gene with protein product	"Behcet's Disease Associated Gene 1"		"KIAA1529", "chromosome 9 open reading frame 174"	KIAA1529, C9orf174		10819331	Standard	NM_020893		Approved	DKFZp434I2420, BDAG1	uc004axg.2	Q9P1Z9	OTTHUMG00000167001	ENST00000357054.1:c.1541C>T	9.37:g.100080777C>T	ENSP00000349562:p.Pro514Leu					CCDC180_ENST00000529487.1_Missense_Mutation_p.P375L|RP11-23J9.4_ENST00000534123.1_RNA|CCDC180_ENST00000395220.1_Intron|CCDC180_ENST00000357054.1_Missense_Mutation_p.P514L|CCDC180_ENST00000460482.2_3'UTR|CCDC180_ENST00000411667.2_Missense_Mutation_p.P372L	p.P375L							24	2476	+								Q2KHR6|Q5VV25|Q68DP5|Q69YV9|Q6AHY0	Missense_Mutation	SNP	ENST00000357054.1	37	c.1124C>T		.	.	.	.	.	.	.	.	.	.	C	16.14	3.037444	0.54896	.	.	ENSG00000197816	ENST00000357054;ENST00000375202;ENST00000411667;ENST00000541524;ENST00000529487	T;T;T;T	0.52057	0.68;0.68;0.68;0.68	4.61	4.61	0.57282	.	0.128458	0.52532	D	0.000067	T	0.66944	0.2841	M	0.77103	2.36	0.47778	D	0.999517	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.999;0.999	T	0.65894	-0.6057	10	0.35671	T	0.21	-4.6807	13.1516	0.59492	0.0:1.0:0.0:0.0	.	372;514;375;514	F5H149;B7ZMG3;Q9P1Z9-2;Q9P1Z9	.;.;.;CI174_HUMAN	L	514;375;372;398;375	ENSP00000349562:P514L;ENSP00000364348:P375L;ENSP00000414000:P372L;ENSP00000434727:P375L	ENSP00000349562:P514L	P	+	2	0	C9orf174	99120598	0.881000	0.30235	0.522000	0.27862	0.024000	0.10985	3.944000	0.56629	2.548000	0.85928	0.563000	0.77884	CCC		0.572	CCDC180-201	KNOWN	basic	protein_coding	protein_coding		NM_020893		6	44	0	0	0	1	0	6	44					T	100080777	C	T	100080777	3	4	183	1	0	0	0	0	1	0	0	0	8240	623	22	3	1591	3	KIAA1529	9	100080777	Missense_Mutation	SNP	C	TCGA-G9-7510-01A-11D-2260-08		100080777	41132654	23	8574											
INVS	27130	broad.mit.edu	37	chr9	103027138	103027138	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	gcattggtcctgcaacaatgGataccttgatgccattaaat	12	12	8	9	0	0	1	0	1	0	0	1	2	1	2	3	2	4	2	3	2	5	4			TCGA-G9-7510-01A-11D-2260-08	TCGA-G9-7510-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a7ebb7c-bb87-4bc6-8d42-00dffd9591e1	98899bed-24c3-494b-83c6-27e994e986c1	g.chr9:103027138G>C	ENST00000262457.2	+	11	1684	c.1499G>C	c.(1498-1500)gGa>gCa	p.G500A	INVS_ENST00000541287.1_Missense_Mutation_p.G404A|INVS_ENST00000262456.2_Missense_Mutation_p.G500A	NM_014425.3	NP_055240.2	Q9Y283	INVS_HUMAN	inversin	500					embryonic heart tube left/right pattern formation (GO:0060971)|kidney development (GO:0001822)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|pancreas development (GO:0031016)|post-embryonic development (GO:0009791)|Wnt signaling pathway (GO:0016055)	cilium (GO:0005929)|cytoplasm (GO:0005737)|membrane (GO:0016020)|microtubule (GO:0005874)|nucleus (GO:0005634)				breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(4)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31		Acute lymphoblastic leukemia(62;0.056)				TGCAACAATGGATACCTTGAT	0.343																																						ENST00000262457.2																			0				breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(4)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31						c.(1498-1500)gGa>gCa		inversin							148	135	139					9																	103027138		2203	4300	6503	SO:0001583	missense	27130				negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	cytoplasm|membrane|microtubule|nucleus|spindle	calmodulin binding	g.chr9:103027138G>C	AF039217	CCDS6746.1, CCDS6747.1	9q31	2013-01-10	2003-08-11		ENSG00000119509	ENSG00000119509		"Ankyrin repeat domain containing"	17870	protein-coding gene	gene with protein product	"nephrocystin 2"	243305	"nephronophthisis 2 (infantile)"	NPHP2		12872123	Standard	NM_014425		Approved		uc004bap.2	Q9Y283	OTTHUMG00000020364	ENST00000262457.2:c.1499G>C	9.37:g.103027138G>C	ENSP00000262457:p.Gly500Ala					INVS_ENST00000541287.1_Missense_Mutation_p.G404A|INVS_ENST00000262456.2_Missense_Mutation_p.G500A	p.G500A	NM_014425.3	NP_055240.2	Q9Y283	INVS_HUMAN			11	1684	+		Acute lymphoblastic leukemia(62;0.056)	500					A2A2Y2|Q2NKL0|Q5W0T6|Q8IVX8|Q9BRB9|Q9Y488|Q9Y498	Missense_Mutation	SNP	ENST00000262457.2	37	c.1499G>C	CCDS6746.1	.	.	.	.	.	.	.	.	.	.	G	26.2	4.713945	0.89112	.	.	ENSG00000119509	ENST00000262457;ENST00000541287;ENST00000262456	T;T;D	0.87729	-0.73;-0.73;-2.29	5.11	5.11	0.69529	Ankyrin repeat-containing domain (4);	0.000000	0.85682	D	0.000000	D	0.94215	0.8143	M	0.84846	2.72	0.80722	D	1	D;D;D	0.89917	0.997;1.0;0.999	D;D;D	0.87578	0.955;0.998;0.994	D	0.94781	0.7953	10	0.62326	D	0.03	.	18.5227	0.90959	0.0:0.0:1.0:0.0	.	404;500;500	F5GZH2;Q9Y283;Q9Y283-2	.;INVS_HUMAN;.	A	500;404;500	ENSP00000262457:G500A;ENSP00000444454:G404A;ENSP00000262456:G500A	ENSP00000262456:G500A	G	+	2	0	INVS	102066959	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.869000	0.99810	2.382000	0.81193	0.561000	0.74099	GGA		0.343	INVS-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053407.1	NM_014425		4	68	0	0	0	1	0	4	68					C	103027138	G	C	103027138	3	2	183	1	0	0	0	0	1	0	0	0	7787	1174	41	5	1537	5	INVS	9	103027138	Missense_Mutation	SNP	G	TCGA-G9-7510-01A-11D-2260-08	2946361	103027138	38186293	24	8575											
KIF5B	3799	broad.mit.edu	37	chr10	32304509	32304509	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccactggctggctgttctgaAcaaatgcacctcctccacga	9	9	8	15	1	1	1	0	1	1	0	3	2	3	1	4	2	2	4	4	2	2	1			TCGA-G9-7510-01A-11D-2260-08	TCGA-G9-7510-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a7ebb7c-bb87-4bc6-8d42-00dffd9591e1	98899bed-24c3-494b-83c6-27e994e986c1	g.chr10:32304509A>G	ENST00000302418.4	-	25	3297	c.2840T>C	c.(2839-2841)gTt>gCt	p.V947A	KIF5B_ENST00000493889.1_5'Flank	NM_004521.2	NP_004512.1	P33176	KINH_HUMAN	kinesin family member 5B	947	Globular.				ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cellular protein metabolic process (GO:0044267)|cytoplasm organization (GO:0007028)|cytoskeleton-dependent intracellular transport (GO:0030705)|microtubule-based movement (GO:0007018)|plus-end-directed vesicle transport along microtubule (GO:0072383)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of potassium ion transport (GO:0043268)|regulation of membrane potential (GO:0042391)|stress granule disassembly (GO:0035617)|vesicle transport along microtubule (GO:0047496)	ciliary rootlet (GO:0035253)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule organizing center (GO:0005815)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|vesicle (GO:0031982)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule binding (GO:0008017)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)		KIF5B/ALK(8)|KIF5B/RET(79)	NS(2)|breast(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(11)|ovary(1)|prostate(1)	35		Prostate(175;0.0137)				GCTGTTCTGAACAAATGCACC	0.448			T	"RET, ALK"	NSCLC																																	ENST00000302418.4				Dom	yes		10	10p11.22	3799	T	kinesin family member 5B			E	"RET, ALK"		NSCLC	KIF5B/ALK(8)|KIF5B/RET(79)	0				NS(2)|breast(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(11)|ovary(1)|prostate(1)	35						c.(2839-2841)gTt>gCt		kinesin family member 5B							104	91	95					10																	32304509		2203	4300	6503	SO:0001583	missense	3799				stress granule disassembly|vesicle transport along microtubule	kinesin complex|microtubule|perinuclear region of cytoplasm|vesicle	ATP binding|microtubule binding|microtubule motor activity	g.chr10:32304509A>G	X65873	CCDS7171.1	10p11.22	2007-02-13			ENSG00000170759	ENSG00000170759		"Kinesins"	6324	protein-coding gene	gene with protein product		602809		KNS1		1607388	Standard	NM_004521		Approved	KNS	uc001iwe.4	P33176	OTTHUMG00000017913	ENST00000302418.4:c.2840T>C	10.37:g.32304509A>G	ENSP00000307078:p.Val947Ala						p.V947A	NM_004521.2	NP_004512.1	P33176	KINH_HUMAN			25	3297	-		Prostate(175;0.0137)	947			Globular.		A0AVB2|Q5VZ85	Missense_Mutation	SNP	ENST00000302418.4	37	c.2840T>C	CCDS7171.1	.	.	.	.	.	.	.	.	.	.	A	11.47	1.646928	0.29246	.	.	ENSG00000170759	ENST00000302418	T	0.74106	-0.81	5.6	1.49	0.22878	.	0.746866	0.13312	N	0.397366	T	0.42720	0.1215	N	0.02011	-0.69	0.27015	N	0.964603	B	0.02656	0.0	B	0.01281	0.0	T	0.31613	-0.9937	10	0.15066	T	0.55	.	7.0608	0.25125	0.4136:0.0:0.5864:0.0	.	947	P33176	KINH_HUMAN	A	947	ENSP00000307078:V947A	ENSP00000307078:V947A	V	-	2	0	KIF5B	32344515	1.000000	0.71417	0.158000	0.22627	0.996000	0.88848	2.378000	0.44309	0.454000	0.26884	0.482000	0.46254	GTT		0.448	KIF5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047467.1	NM_004521		4	98	0	0	0	1	0	4	98					G	32304509	A	G	32304509	3	3	183	1	0	0	0	0	1	0	0	0	8306	43	2	4	55	4	KIF5B	10	32304509	Missense_Mutation	SNP	A	TCGA-G9-7510-01A-11D-2260-08		32304509	103230238	25	8576											
PLA2G12B	84647	broad.mit.edu	37	chr10	74714239	74714239	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaccgcacactcaccatatcGgcacctgtactgacagactc	12	7	6	16	2	1	2	1	1	0	1	3	2	1	2	3	1	2	3	3	1	3	2			TCGA-G9-7510-01A-11D-2260-08	TCGA-G9-7510-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a7ebb7c-bb87-4bc6-8d42-00dffd9591e1	98899bed-24c3-494b-83c6-27e994e986c1	g.chr10:74714239G>A	ENST00000373032.3	-	1	297	c.205C>T	c.(205-207)Cga>Tga	p.R69*		NM_032562.2	NP_115951.2	Q9BX93	PG12B_HUMAN	phospholipase A2, group XIIB	69					cholesterol homeostasis (GO:0042632)|lipid catabolic process (GO:0016042)|triglyceride homeostasis (GO:0070328)	extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|phospholipase A2 activity (GO:0004623)			breast(1)|endometrium(1)|large_intestine(1)|lung(2)|ovary(2)|skin(2)	9	Prostate(51;0.0198)					TCACCATATCGGCACCTGTAC	0.512																																						ENST00000373032.3																			0				breast(1)|endometrium(1)|large_intestine(1)|lung(2)|ovary(2)|skin(2)	9						c.(205-207)Cga>Tga		phospholipase A2, group XIIB							169	172	171					10																	74714239		2203	4300	6503	SO:0001587	stop_gained	84647				lipid catabolic process	extracellular region	calcium ion binding|phospholipase A2 activity	g.chr10:74714239G>A	AF349540	CCDS7319.1	10q22.1	2008-09-19	2004-01-13	2004-01-14	ENSG00000138308	ENSG00000138308	3.1.1.4		18555	protein-coding gene	gene with protein product		611653	"phospholipase A2, group XIII"	PLA2G13			Standard	NM_032562		Approved		uc001jtf.1	Q9BX93	OTTHUMG00000018446	ENST00000373032.3:c.205C>T	10.37:g.74714239G>A	ENSP00000362123:p.Arg69*						p.R69*	NM_032562.2	NP_115951.2	Q9BX93	PG12B_HUMAN			1	297	-	Prostate(51;0.0198)		69					B7ZL23|Q52LB2|Q96Q99	Nonsense_Mutation	SNP	ENST00000373032.3	37	c.205C>T	CCDS7319.1	.	.	.	.	.	.	.	.	.	.	G	35	5.587345	0.96590	.	.	ENSG00000138308	ENST00000373032	.	.	.	5.46	3.42	0.39159	.	0.066213	0.64402	D	0.000015	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-10.8094	15.7205	0.77705	0.0:0.0:0.6829:0.3171	.	.	.	.	X	69	.	ENSP00000362123:R69X	R	-	1	2	PLA2G12B	74384245	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	1.319000	0.33655	1.307000	0.44944	-0.127000	0.14921	CGA		0.512	PLA2G12B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048598.1	NM_032562		10	156	0	0	0	1	0	10	156					A	74714239	G	A	74714239	4	1	183	1	0	0	0	0	0	1	0	0	11991	1124	39	2	398	2	PLA2G12B	10	74714239	Nonsense_Mutation	SNP	G	TCGA-G9-7510-01A-11D-2260-08	42409730	74714239	60820508	26	8577											
ATM	472	broad.mit.edu	37	chr11	108225561	108225561	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtgagaaaaccatggaagTgatgagaaactctcaggaaa	17	7	11	6	0	1	3	1	3	1	2	2	7	1	5	1	2	2	0	1	2	5	0	rs587782149		TCGA-G9-7510-01A-11D-2260-08	TCGA-G9-7510-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a7ebb7c-bb87-4bc6-8d42-00dffd9591e1	98899bed-24c3-494b-83c6-27e994e986c1	g.chr11:108225561T>G	ENST00000452508.2	+	62	8999	c.8810T>G	c.(8809-8811)gTg>gGg	p.V2937G	C11orf65_ENST00000525729.1_Intron|ATM_ENST00000278616.4_Missense_Mutation_p.V2937G|C11orf65_ENST00000526725.1_Intron|ATM_ENST00000525178.1_3'UTR			Q13315	ATM_HUMAN	ATM serine/threonine kinase	2937	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.				brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|DNA damage induced protein phosphorylation (GO:0006975)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|heart development (GO:0007507)|histone mRNA catabolic process (GO:0071044)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|lipoprotein catabolic process (GO:0042159)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of B cell proliferation (GO:0030889)|neuron apoptotic process (GO:0051402)|oocyte development (GO:0048599)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of neuron apoptotic process (GO:0043525)|pre-B cell allelic exclusion (GO:0002331)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reciprocal meiotic recombination (GO:0007131)|replicative senescence (GO:0090399)|response to hypoxia (GO:0001666)|response to ionizing radiation (GO:0010212)|signal transduction (GO:0007165)|signal transduction involved in mitotic G2 DNA damage checkpoint (GO:0072434)|somitogenesis (GO:0001756)|telomere maintenance (GO:0000723)	cytoplasmic vesicle (GO:0031410)|nucleoplasm (GO:0005654)|spindle (GO:0005819)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|histone serine kinase activity (GO:0035174)|protein complex binding (GO:0032403)|protein dimerization activity (GO:0046983)|protein N-terminus binding (GO:0047485)|protein serine/threonine kinase activity (GO:0004674)			NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	Caffeine(DB00201)	ACCATGGAAGTGATGAGAAAC	0.338			"D, Mis, N, F, S"		T-PLL	"leukemia, lymphoma, medulloblastoma, glioma"		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)																												ENST00000278616.4			yes	Rec	yes	Ataxia-telangiectasia	11	11q22.3	472	"D, Mis, N, F, S"	ataxia telangiectasia mutated			"L, O"		"leukemia, lymphoma, medulloblastoma, glioma"	T-PLL		0				NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448						c.(8809-8811)gTg>gGg	Genes defective in diseases associated with sensitivity to DNA damaging agents	ataxia telangiectasia mutated							189	197	194					11																	108225561		2201	4298	6499	SO:0001583	missense	472	Ataxia Telangiectasia	Familial Cancer Database	AT, Louis-Bar syndrome	cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding	g.chr11:108225561T>G	AB209133	CCDS31669.1	11q22-q23	2014-09-17	2014-06-17		ENSG00000149311	ENSG00000149311			795	protein-coding gene	gene with protein product	"TEL1, telomere maintenance 1, homolog (S. cerevisiae)"	607585	"ataxia telangiectasia mutated (includes complementation groups A, C and D)", "ataxia telangiectasia mutated"	ATA, ATDC, ATC, ATD			Standard	XM_005271561		Approved	TEL1, TELO1	uc001pkb.1	Q13315	OTTHUMG00000166480	ENST00000452508.2:c.8810T>G	11.37:g.108225561T>G	ENSP00000388058:p.Val2937Gly	TSP Lung(14;0.12)				C11orf65_ENST00000525729.1_Intron|C11orf65_ENST00000526725.1_Intron|ATM_ENST00000525178.1_3'UTR|ATM_ENST00000452508.2_Missense_Mutation_p.V2937G	p.V2937G	NM_000051.3	NP_000042.3	Q13315	ATM_HUMAN		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	61	9195	+		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)	2937			PI3K/PI4K.		B2RNX5|O15429|Q12758|Q16551|Q93007|Q9NP02|Q9UCX7	Missense_Mutation	SNP	ENST00000452508.2	37	c.8810T>G	CCDS31669.1	.	.	.	.	.	.	.	.	.	.	T	26.3	4.719905	0.89205	.	.	ENSG00000149311	ENST00000278616;ENST00000452508	D;D	0.82255	-1.59;-1.59	5.72	5.72	0.89469	Protein kinase-like domain (1);Armadillo-type fold (1);Phosphatidylinositol 3-/4-kinase, catalytic (4);	0.000000	0.85682	D	0.000000	D	0.93387	0.7891	M	0.93420	3.415	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.94962	0.8109	10	0.87932	D	0	.	15.9979	0.80265	0.0:0.0:0.0:1.0	.	2937	Q13315	ATM_HUMAN	G	2937	ENSP00000278616:V2937G;ENSP00000388058:V2937G	ENSP00000278616:V2937G	V	+	2	0	ATM	107730771	1.000000	0.71417	0.997000	0.53966	0.972000	0.66771	8.010000	0.88615	2.183000	0.69458	0.383000	0.25322	GTG		0.338	ATM-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389938.1	NM_000051		13	80	0	0	0	1	0	13	80					G	108225561	T	G	108225561	3	3	183	1	0	0	0	0	1	0	0	0	1109	1696	59	5	9048	5	ATM	11	108225561	Missense_Mutation	SNP	T	TCGA-G9-7510-01A-11D-2260-08		108225561	26780955	27	8578											
CD163L1	283316	broad.mit.edu	37	chr12	7528499	7528499	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctctgcacagcacattggcaGcatgaagagagaaatcagaa	16	6	10	9	0	2	4	1	1	1	3	2	5	2	4	0	1	3	4	0	1	3	1			TCGA-G9-7510-01A-11D-2260-08	TCGA-G9-7510-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a7ebb7c-bb87-4bc6-8d42-00dffd9591e1	98899bed-24c3-494b-83c6-27e994e986c1	g.chr12:7528499G>A	ENST00000313599.3	-	10	2540	c.2483C>T	c.(2482-2484)gCt>gTt	p.A828V	CD163L1_ENST00000396630.1_Missense_Mutation_p.A828V|CD163L1_ENST00000544331.1_5'UTR|CD163L1_ENST00000416109.2_Missense_Mutation_p.A838V			Q9NR16	C163B_HUMAN	CD163 molecule-like 1	828	SRCR 8. {ECO:0000255|PROSITE- ProRule:PRU00196}.					extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)			breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						CACATTGGCAGCATGAAGAGA	0.483																																						ENST00000313599.3																			0				breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						c.(2482-2484)gCt>gTt		CD163 molecule-like 1							95	96	96					12																	7528499		2203	4300	6503	SO:0001583	missense	283316					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity	g.chr12:7528499G>A	AF264014	CCDS8577.1, CCDS73434.1	12p13.31	2006-03-28	2006-03-28			ENSG00000177675			30375	protein-coding gene	gene with protein product		606079	"CD163 antigen-like 1"			11124526, 11086079	Standard	XM_005253348		Approved	M160, CD163B	uc001qsy.3	Q9NR16		ENST00000313599.3:c.2483C>T	12.37:g.7528499G>A	ENSP00000315945:p.Ala828Val					CD163L1_ENST00000396630.1_Missense_Mutation_p.A828V|CD163L1_ENST00000416109.2_Missense_Mutation_p.A838V|CD163L1_ENST00000544331.1_5'UTR	p.A828V			Q9NR16	C163B_HUMAN			10	2540	-			828			SRCR 8.		B4E0G7|C9JHR7|E7EVK4|Q2M3B7|Q6UWC2	Missense_Mutation	SNP	ENST00000313599.3	37	c.2483C>T	CCDS8577.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.041893	0.75732	.	.	ENSG00000177675	ENST00000313599;ENST00000416109;ENST00000396630	T;T;T	0.36340	1.26;1.26;1.26	2.74	2.74	0.32292	Speract/scavenger receptor (2);Speract/scavenger receptor-related (2);	0.667611	0.12311	U	0.480196	T	0.46308	0.1386	L	0.49571	1.57	0.23445	N	0.997665	P;D	0.60160	0.951;0.987	P;P	0.61132	0.622;0.884	T	0.17319	-1.0373	10	0.49607	T	0.09	.	7.6896	0.28561	0.0:0.2642:0.7358:0.0	.	838;828	E7EVK4;Q9NR16	.;C163B_HUMAN	V	828;838;828	ENSP00000315945:A828V;ENSP00000393474:A838V;ENSP00000379871:A828V	ENSP00000315945:A828V	A	-	2	0	CD163L1	7419766	0.999000	0.42202	0.058000	0.19502	0.831000	0.47069	3.582000	0.53921	1.520000	0.48965	0.455000	0.32223	GCT		0.483	CD163L1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399329.1	NM_174941		3	101	0	0	0	1	0	3	101					A	7528499	G	A	7528499	3	1	183	1	0	0	0	0	1	0	0	0	2968	971	34	3	1918	3	CD163L1	12	7528499	Missense_Mutation	SNP	G	TCGA-G9-7510-01A-11D-2260-08		7528499	126323396	28	8579											
CLEC12B	387837	broad.mit.edu	37	chr12	10163422	10163422	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgctggagcaaggaataacCgagatggaaataacctaaga	17	6	11	7	1	0	2	0	0	0	2	0	6	0	5	2	3	4	2	2	3	6	3	rs145803876	byFrequency	TCGA-G9-7510-01A-11D-2260-08	TCGA-G9-7510-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a7ebb7c-bb87-4bc6-8d42-00dffd9591e1	98899bed-24c3-494b-83c6-27e994e986c1	g.chr12:10163422C>T	ENST00000338896.5	+	1	192	c.64C>T	c.(64-66)Cga>Tga	p.R22*	CLEC12B_ENST00000396502.1_Nonsense_Mutation_p.R22*|CLEC1B_ENST00000428126.2_5'UTR	NM_001129998.1	NP_001123470.1	Q2HXU8	CL12B_HUMAN	C-type lectin domain family 12, member B	22						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)			central_nervous_system(2)|large_intestine(2)|lung(5)	9						AAGGAATAACCGAGATGGAAA	0.423													C|||	3	0.000599042	0	0	5008	,	,		20118	0.003		0	False		,,,				2504	0					ENST00000396502.1																			0				central_nervous_system(2)|large_intestine(2)|lung(5)	9						c.(64-66)Cga>Tga		C-type lectin domain family 12, member B		C	stop/ARG,stop/ARG	0,4406		0,0,2203	56	53	54		64,64	-0.2	0	12	dbSNP_134	54	1,8599	1.2+/-3.3	0,1,4299	yes	stop-gained,stop-gained	CLEC12B	NM_001129998.1,NM_205852.2	,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,	22/277,22/233	10163422	1,13005	2203	4300	6503	SO:0001587	stop_gained	387837					integral to membrane|plasma membrane	receptor activity|sugar binding	g.chr12:10163422C>T	AK128243	CCDS8610.1, CCDS44830.1	12p13.2	2010-08-17			ENSG00000256660	ENSG00000256660		"C-type lectin domain containing"	31966	protein-coding gene	gene with protein product						17562706	Standard	NM_205852		Approved		uc001qwz.2	Q2HXU8	OTTHUMG00000168397	ENST00000338896.5:c.64C>T	12.37:g.10163422C>T	ENSP00000344563:p.Arg22*					CLEC12B_ENST00000338896.5_Nonsense_Mutation_p.R22*|CLEC1B_ENST00000428126.2_5'UTR	p.R22*	NM_205852.2	NP_995324.2	Q2HXU8	CL12B_HUMAN			1	192	+			22					Q6UWF2|Q6ZRG0	Nonsense_Mutation	SNP	ENST00000338896.5	37	c.64C>T	CCDS44830.1	.	.	.	.	.	.	.	.	.	.	C	12.43	1.937124	0.34189	0.0	1.16E-4	ENSG00000256660	ENST00000396502;ENST00000338896	.	.	.	4.88	-0.227	0.13102	.	1.571580	0.03756	N	0.257300	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06236	T	0.91	.	1.5819	0.02636	0.145:0.459:0.141:0.255	.	.	.	.	X	22	.	ENSP00000344563:R22X	R	+	1	2	CLEC12B	10054689	0.000000	0.05858	0.000000	0.03702	0.050000	0.14768	-0.089000	0.11180	-0.139000	0.11414	-0.291000	0.09656	CGA		0.423	CLEC12B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399554.2	NM_205852		5	25	0	0	0	1	0	5	25					T	10163422	C	T	10163422	4	4	183	1	0	0	0	0	0	1	0	0	3498	644	23	2	66	2	CLEC12B	12	10163422	Nonsense_Mutation	SNP	C	TCGA-G9-7510-01A-11D-2260-08	2634923	10163422	123688473	29	8580											
AKAP6	9472	broad.mit.edu	37	chr14	33292152	33292152	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	gtgttacacaagaacaagatCccggaatcgaatgcatcgtt	14	9	9	9	3	0	2	0	0	0	2	3	4	1	3	1	1	3	3	1	1	6	2			TCGA-G9-7510-01A-11D-2260-08	TCGA-G9-7510-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a7ebb7c-bb87-4bc6-8d42-00dffd9591e1	98899bed-24c3-494b-83c6-27e994e986c1	g.chr14:33292152C>G	ENST00000280979.4	+	13	5303	c.5133C>G	c.(5131-5133)atC>atG	p.I1711M	AKAP6_ENST00000557272.1_Intron	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6	1711					action potential (GO:0001508)|cAMP-mediated signaling (GO:0019933)|cellular response to cAMP (GO:0071320)|cellular response to cytokine stimulus (GO:0071345)|negative regulation of cAMP biosynthetic process (GO:0030818)|positive regulation of calcineurin-NFAT signaling cascade (GO:0070886)|positive regulation of cell growth (GO:0030307)|positive regulation of cell growth involved in cardiac muscle cell development (GO:0061051)|positive regulation of delayed rectifier potassium channel activity (GO:1902261)|positive regulation of NFAT protein import into nucleus (GO:0051533)|positive regulation of potassium ion transmembrane transport (GO:1901381)|positive regulation of protein phosphatase type 2B activity (GO:0032514)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|protein targeting (GO:0006605)|regulation of membrane repolarization (GO:0060306)|regulation of protein kinase A signaling (GO:0010738)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)	calcium channel complex (GO:0034704)|caveola (GO:0005901)|cytoplasm (GO:0005737)|intercalated disc (GO:0014704)|junctional sarcoplasmic reticulum membrane (GO:0014701)|nuclear envelope (GO:0005635)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)	adenylate cyclase binding (GO:0008179)|ion channel binding (GO:0044325)|protein anchor (GO:0043495)|protein complex scaffold (GO:0032947)|protein kinase A binding (GO:0051018)|protein kinase A regulatory subunit binding (GO:0034237)			NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		AGAACAAGATCCCGGAATCGA	0.458																																					Melanoma(49;821 1200 7288 13647 42351)	ENST00000280979.4																			0				NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122						c.(5131-5133)atC>atG		A kinase (PRKA) anchor protein 6							146	129	135					14																	33292152		2203	4300	6503	SO:0001583	missense	9472				protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding	g.chr14:33292152C>G	AB002309	CCDS9644.1	14q12	2008-08-11			ENSG00000151320	ENSG00000151320		"A-kinase anchor proteins"	376	protein-coding gene	gene with protein product	"protein kinase A anchoring protein 6"	604691				7721854, 9205841	Standard	NM_004274		Approved	KIAA0311, mAKAP, AKAP100, PRKA6, ADAP6	uc001wrq.3	Q13023	OTTHUMG00000140207	ENST00000280979.4:c.5133C>G	14.37:g.33292152C>G	ENSP00000280979:p.Ile1711Met					AKAP6_ENST00000557272.1_Intron	p.I1711M	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)	13	5303	+	Breast(36;0.0388)|Prostate(35;0.15)		1711					A7E242|A7E2D4|O15028	Missense_Mutation	SNP	ENST00000280979.4	37	c.5133C>G	CCDS9644.1	.	.	.	.	.	.	.	.	.	.	C	10.58	1.390002	0.25118	.	.	ENSG00000151320	ENST00000280979	T	0.06933	3.24	5.78	2.97	0.34412	.	0.610413	0.17745	N	0.163420	T	0.09774	0.0240	L	0.60455	1.87	0.80722	D	1	P	0.46706	0.883	B	0.42555	0.391	T	0.07790	-1.0754	10	0.87932	D	0	-0.4627	5.1958	0.15236	0.2225:0.5491:0.0:0.2285	.	1711	Q13023	AKAP6_HUMAN	M	1711	ENSP00000280979:I1711M	ENSP00000280979:I1711M	I	+	3	3	AKAP6	32361903	0.817000	0.29147	0.998000	0.56505	0.927000	0.56198	-0.096000	0.11059	0.799000	0.34018	0.650000	0.86243	ATC		0.458	AKAP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276617.2	NM_004274		9	89	0	0	0	1	0	9	89					G	33292152	C	G	33292152	3	3	183	1	0	0	0	0	1	0	0	0	455	845	30	5	5179	5	AKAP6	14	33292152	Missense_Mutation	SNP	C	TCGA-G9-7510-01A-11D-2260-08		33292152	74057388	30	8581											
PLA2G4E	123745	broad.mit.edu	37	chr15	42278134	42278134	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agctggagttgacaaagaacGcagtgtccagcaggcacagg	13	5	14	9	1	0	2	0	1	0	1	1	3	1	3	1	3	3	5	1	3	2	1			TCGA-G9-7510-01A-11D-2260-08	TCGA-G9-7510-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a7ebb7c-bb87-4bc6-8d42-00dffd9591e1	98899bed-24c3-494b-83c6-27e994e986c1	g.chr15:42278134G>A	ENST00000399518.3	-	18	2591	c.2105C>T	c.(2104-2106)gCg>gTg	p.A702V	CTD-2382E5.1_ENST00000499478.2_RNA|PLA2G4E_ENST00000413860.2_Missense_Mutation_p.A673V	NM_001206670.1	NP_001193599.1	Q3MJ16	PA24E_HUMAN	phospholipase A2, group IVE	690	PLA2c. {ECO:0000255|PROSITE- ProRule:PRU00555}.				glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid catabolic process (GO:0009395)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|lysosome (GO:0005764)|membrane (GO:0016020)	metal ion binding (GO:0046872)|phospholipase A2 activity (GO:0004623)			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|stomach(1)	16		all_cancers(109;8.09e-13)|all_epithelial(112;2.03e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.0273)		OV - Ovarian serous cystadenocarcinoma(18;7.61e-18)|GBM - Glioblastoma multiforme(94;3.07e-06)		GACAAAGAACGCAGTGTCCAG	0.567																																						ENST00000399518.3																			0				NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|stomach(1)	16						c.(2104-2106)gCg>gTg		phospholipase A2, group IVE							57	64	62					15																	42278134		2143	4242	6385	SO:0001583	missense	123745				phospholipid catabolic process	cytosol|lysosomal membrane	metal ion binding|phospholipase A2 activity	g.chr15:42278134G>A		CCDS55962.1	15q15.1	2008-09-19			ENSG00000188089	ENSG00000188089	3.1.1.4		24791	protein-coding gene	gene with protein product						15866882	Standard	NM_001206670		Approved	FLJ45651	uc021sjp.1	Q3MJ16	OTTHUMG00000130371	ENST00000399518.3:c.2105C>T	15.37:g.42278134G>A	ENSP00000382434:p.Ala702Val					PLA2G4E_ENST00000413860.2_Missense_Mutation_p.A673V|CTD-2382E5.1_ENST00000499478.2_RNA	p.A702V	NM_001206670.1	NP_001193599.1	Q3MJ16	PA24E_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;7.61e-18)|GBM - Glioblastoma multiforme(94;3.07e-06)	18	2591	-		all_cancers(109;8.09e-13)|all_epithelial(112;2.03e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.0273)	690			PLA2c.		Q6ZSC0	Missense_Mutation	SNP	ENST00000399518.3	37	c.2105C>T	CCDS55962.1	.	.	.	.	.	.	.	.	.	.	G	23.5	4.423264	0.83559	.	.	ENSG00000188089	ENST00000399518;ENST00000413860	T;T	0.04917	3.53;3.53	5.72	5.72	0.89469	Acyl transferase/acyl hydrolase/lysophospholipase (1);Lysophospholipase, catalytic domain (2);	0.130904	0.49916	D	0.000121	T	0.22589	0.0545	M	0.72894	2.215	0.30195	N	0.799123	D;D	0.76494	0.999;0.999	D;D	0.65573	0.936;0.936	T	0.01810	-1.1269	10	0.87932	D	0	-20.3783	14.3001	0.66341	0.0:0.1487:0.8512:0.0	.	673;690	C9JK77;Q3MJ16	.;PA24E_HUMAN	V	702;673	ENSP00000382434:A702V;ENSP00000413897:A673V	ENSP00000382434:A702V	A	-	2	0	PLA2G4E	40065426	0.898000	0.30612	0.154000	0.22540	0.986000	0.74619	1.916000	0.39986	2.691000	0.91804	0.655000	0.94253	GCG		0.567	PLA2G4E-001	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252738.2	NM_198442		3	15	0	0	0	1	0	3	15					A	42278134	G	A	42278134	3	1	183	1	0	0	0	0	1	0	0	0	12005	1087	38	1	513	1	PLA2G4E	15	42278134	Missense_Mutation	SNP	G	TCGA-G9-7510-01A-11D-2260-08		42278134	60253258	31	8582											
IMP3	55272	broad.mit.edu	37	chr15	75931970	75931970	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atccgctaggcttccagatcGaagtcatcgcgctcctcatt	8	11	8	14	4	2	1	2	0	0	1	7	2	5	1	3	1	0	3	3	1	2	3			TCGA-G9-7510-01A-11D-2260-08	TCGA-G9-7510-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a7ebb7c-bb87-4bc6-8d42-00dffd9591e1	98899bed-24c3-494b-83c6-27e994e986c1	g.chr15:75931970G>T	ENST00000314852.2	-	2	1483	c.540C>A	c.(538-540)ttC>ttA	p.F180L	IMP3_ENST00000565349.1_5'Flank|IMP3_ENST00000403490.1_Missense_Mutation_p.F180L|CTD-2026K11.2_ENST00000564683.1_RNA			Q8TCT8	SPP2A_HUMAN	IMP3, U3 small nucleolar ribonucleoprotein	0					membrane protein ectodomain proteolysis (GO:0006509)|membrane protein intracellular domain proteolysis (GO:0031293)|regulation of immune response (GO:0050776)	extracellular vesicular exosome (GO:0070062)|Golgi-associated vesicle membrane (GO:0030660)|integral component of cytoplasmic side of endoplasmic reticulum membrane (GO:0071458)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	aspartic-type endopeptidase activity (GO:0004190)|protein homodimerization activity (GO:0042803)			large_intestine(1)	1						CTTCCAGATCGAAGTCATCGC	0.532																																						ENST00000314852.2																			0				large_intestine(1)	1						c.(538-540)ttC>ttA		IMP3, U3 small nucleolar ribonucleoprotein, homolog (yeast)							84	74	77					15																	75931970		2197	4294	6491	SO:0001583	missense	55272				rRNA processing	nucleolus|ribonucleoprotein complex	protein binding|rRNA binding	g.chr15:75931970G>T	AB051628	CCDS10282.1	15q24	2014-02-19	2014-02-19	2005-07-14	ENSG00000177971	ENSG00000177971			14497	protein-coding gene	gene with protein product		612980	"mitochondrial ribosomal protein S4", "chromosome 15 open reading frame 12", "IMP3, U3 small nucleolar ribonucleoprotein, homolog (yeast)"	MRPS4, C15orf12		11543634, 12655004	Standard	NM_018285		Approved	FLJ10968, BRMS2	uc010bkl.2	Q9NV31	OTTHUMG00000142840	ENST00000314852.2:c.540C>A	15.37:g.75931970G>T	ENSP00000326981:p.Phe180Leu					IMP3_ENST00000403490.1_Missense_Mutation_p.F180L	p.F180L			Q9NV31	IMP3_HUMAN			2	1483	-			180					B2RDS0|Q8TAW1|Q96SZ8	Missense_Mutation	SNP	ENST00000314852.2	37	c.540C>A	CCDS10282.1	.	.	.	.	.	.	.	.	.	.	G	19.14	3.769380	0.69992	.	.	ENSG00000177971	ENST00000314852;ENST00000403490;ENST00000542473	.	.	.	5.99	0.269	0.15631	.	0.000000	0.85682	D	0.000000	T	0.76485	0.3994	M	0.91717	3.235	0.58432	D	0.999996	D	0.67145	0.996	D	0.64877	0.93	T	0.72789	-0.4187	9	0.87932	D	0	-22.9208	5.1344	0.14926	0.2765:0.0:0.5827:0.1408	.	180	Q9NV31	IMP3_HUMAN	L	180;180;27	.	ENSP00000326981:F180L	F	-	3	2	IMP3	73719025	1.000000	0.71417	0.993000	0.49108	0.491000	0.33493	1.899000	0.39818	-0.199000	0.10317	-0.895000	0.02911	TTC		0.532	IMP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286476.1	NM_018285		8	58	1	0	1.12685e-05	1	1.19314e-05	8	58					T	75931970	G	T	75931970	3	4	183	1	0	0	0	0	1	0	0	0	7719	1049	37	5	18	5	IMP3	15	75931970	Missense_Mutation	SNP	G	TCGA-G9-7510-01A-11D-2260-08	33653836	75931970	26599422	32	8583											
GAN	8139	broad.mit.edu	37	chr16	81390408	81390408	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aggtccacatgaaggatgttAtgtcagctctgtgggtttca	9	13	12	7	0	3	1	2	1	1	0	4	2	4	2	1	3	1	3	1	3	2	2			TCGA-G9-7510-01A-11D-2260-08	TCGA-G9-7510-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a7ebb7c-bb87-4bc6-8d42-00dffd9591e1	98899bed-24c3-494b-83c6-27e994e986c1	g.chr16:81390408A>T	ENST00000568107.2	+	4	814	c.652A>T	c.(652-654)Atg>Ttg	p.M218L		NM_022041.3	NP_071324.1	Q9H2C0	GAN_HUMAN	gigaxonin	218	BACK.				cell death (GO:0008219)|protein ubiquitination (GO:0016567)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)	25		Colorectal(91;0.153)				GAAGGATGTTATGTCAGCTCT	0.408																																					GBM(106;1239 1507 7582 9741 33976)	ENST00000248272.3																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)	25						c.(652-654)Atg>Ttg		gigaxonin							122	110	114					16																	81390408		2202	4300	6502	SO:0001583	missense	8139				cell death	cytoplasm|neurofilament	protein binding	g.chr16:81390408A>T	AF291673	CCDS10935.1	16q24.1	2014-09-17	2008-08-01		ENSG00000261609	ENSG00000261609		"Kelch-like", "BTB/POZ domain containing"	4137	protein-coding gene	gene with protein product	"kelch-like family member 16"	605379	"giant axonal neuropathy (gigaxonin)"			9450783, 11062483	Standard	NM_022041		Approved	GAN1, KLHL16	uc002fgo.3	Q9H2C0	OTTHUMG00000137627	ENST00000568107.2:c.652A>T	16.37:g.81390408A>T	ENSP00000476795:p.Met218Leu						p.M218L	NM_022041.3	NP_071324.1	Q9H2C0	GAN_HUMAN			4	814	+		Colorectal(91;0.153)	218			BACK.			Missense_Mutation	SNP	ENST00000568107.2	37	c.652A>T	CCDS10935.1	.	.	.	.	.	.	.	.	.	.	A	15.01	2.705012	0.48412	.	.	ENSG00000127688	ENST00000248272	T	0.57595	0.39	5.53	4.45	0.53987	BTB/Kelch-associated (2);	0.146625	0.85682	D	0.000000	T	0.18635	0.0447	N	0.00873	-1.125	0.46241	D	0.998943	B	0.02656	0.0	B	0.04013	0.001	T	0.25745	-1.0123	10	0.02654	T	1	.	11.3574	0.49623	0.929:0.0:0.071:0.0	.	218	Q9H2C0	GAN_HUMAN	L	218	ENSP00000248272:M218L	ENSP00000248272:M218L	M	+	1	0	GAN	79947909	1.000000	0.71417	0.977000	0.42913	0.998000	0.95712	7.448000	0.80631	0.937000	0.37394	0.460000	0.39030	ATG		0.408	GAN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269050.3			12	107	0	0	0	1	0	12	107					T	81390408	A	T	81390408	3	4	183	1	0	0	0	0	1	0	0	0	6232	449	16	5	666	5	GAN	16	81390408	Missense_Mutation	SNP	A	TCGA-G9-7510-01A-11D-2260-08		81390408	8964345	33	8584											
ZCCHC14	23174	broad.mit.edu	37	chr16	87451328	87451328	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cgctctgcgaggacgggataCcagccactccacacacaggc	10	4	11	16	3	1	0	0	0	1	0	2	3	2	2	3	3	3	1	3	3	1	1			TCGA-G9-7510-01A-11D-2260-08	TCGA-G9-7510-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a7ebb7c-bb87-4bc6-8d42-00dffd9591e1	98899bed-24c3-494b-83c6-27e994e986c1	g.chr16:87451328C>G	ENST00000268616.4	-	8	927	c.710G>C	c.(709-711)gGt>gCt	p.G237A		NM_015144.2	NP_055959.1	Q8WYQ9	ZCH14_HUMAN	zinc finger, CCHC domain containing 14	237							nucleic acid binding (GO:0003676)|phosphatidylinositol binding (GO:0035091)|zinc ion binding (GO:0008270)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	36				BRCA - Breast invasive adenocarcinoma(80;0.0285)		GGACGGGATACCAGCCACTCC	0.682																																						ENST00000268616.4																			0				breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	36						c.(709-711)gGt>gCt		zinc finger, CCHC domain containing 14							17	20	19					16																	87451328		2194	4291	6485	SO:0001583	missense	23174				cell communication		nucleic acid binding|phosphatidylinositol binding|zinc ion binding	g.chr16:87451328C>G	AB011151	CCDS10961.1	16q24.2	2013-01-10			ENSG00000140948	ENSG00000140948		"Zinc fingers, CCHC domain containing", "Sterile alpha motif (SAM) domain containing"	24134	protein-coding gene	gene with protein product						9628581	Standard	XM_005255858		Approved	BDG29, MGC14139	uc002fjz.1	Q8WYQ9	OTTHUMG00000137655	ENST00000268616.4:c.710G>C	16.37:g.87451328C>G	ENSP00000268616:p.Gly237Ala						p.G237A	NM_015144.2	NP_055959.1	Q8WYQ9	ZCH14_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0285)	8	927	-			237					D3DUN1|O60324|Q3MJD8|Q9UFP0	Missense_Mutation	SNP	ENST00000268616.4	37	c.710G>C	CCDS10961.1	.	.	.	.	.	.	.	.	.	.	C	17.73	3.462472	0.63513	.	.	ENSG00000140948	ENST00000268616	T	0.18960	2.18	5.77	5.77	0.91146	.	0.054133	0.64402	D	0.000001	T	0.30198	0.0757	L	0.29908	0.895	0.48185	D	0.999608	D;D	0.58620	0.976;0.983	P;P	0.54060	0.741;0.556	T	0.00363	-1.1788	10	0.40728	T	0.16	-37.6002	20.3473	0.98799	0.0:1.0:0.0:0.0	.	237;237	Q8WYQ9-2;Q8WYQ9	.;ZCH14_HUMAN	A	237	ENSP00000268616:G237A	ENSP00000268616:G237A	G	-	2	0	ZCCHC14	86008829	1.000000	0.71417	0.980000	0.43619	0.015000	0.08874	4.701000	0.61810	2.884000	0.98904	0.655000	0.94253	GGT		0.682	ZCCHC14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269107.1	NM_015144		4	17	0	0	0	1	0	4	17					G	87451328	C	G	87451328	3	3	183	1	0	0	0	0	1	0	0	0	17580	507	18	5	2163	5	ZCCHC14	16	87451328	Missense_Mutation	SNP	C	TCGA-G9-7510-01A-11D-2260-08	6060920	87451328	2903425	34	8585											
RNMTL1	51031	broad.mit.edu	37	chr17	685825	685825	+	5'Flank	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tctgaggccagtgcccaggaGcaacgagagaaacaaccgct	13	4	12	12	2	1	2	0	1	1	1	1	5	1	3	3	2	5	2	3	2	3	0			TCGA-G9-7510-01A-11D-2260-08	TCGA-G9-7510-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a7ebb7c-bb87-4bc6-8d42-00dffd9591e1	98899bed-24c3-494b-83c6-27e994e986c1	g.chr17:685825G>A	ENST00000301328.5	-	0	0				GLOD4_ENST00000536578.1_5'Flank|RNMTL1_ENST00000304478.4_Silent_p.E69E|GLOD4_ENST00000301329.6_5'Flank			Q9HC38	GLOD4_HUMAN	glyoxalase domain containing 4							extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)				endometrium(1)|large_intestine(1)|prostate(1)	3				UCEC - Uterine corpus endometrioid carcinoma (25;0.022)		GTGCCCAGGAGCAACGAGAGA	0.617																																						ENST00000304478.4																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	10						c.(205-207)gaG>gaA		RNA methyltransferase like 1							33	32	32					17																	685825		2203	4300	6503	SO:0001631	upstream_gene_variant	55178				RNA processing		protein binding|RNA binding|RNA methyltransferase activity	g.chr17:685825G>A	AF177342	CCDS32520.1	17p13.3	2008-02-05	2007-03-14	2007-03-14		ENSG00000167699			14111	protein-coding gene	gene with protein product			"chromosome 17 open reading frame 25"	C17orf25		11642406, 12528892	Standard	NM_016080		Approved	CGI-150, HC71	uc002fru.3	Q9HC38			17.37:g.685825G>A	Exception_encountered						p.E69E	NM_018146.2	NP_060616.1	Q9HC36	RMTL1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.0219)	1	313	+			69					D3DTG9|D3DTH1|Q96B89|Q9H3J8|Q9HC37|Q9NVN1	Silent	SNP	ENST00000301328.5	37	c.207G>A		.	.	.	.	.	.	.	.	.	.	G	1.039	-0.679455	0.03353	.	.	ENSG00000167699	ENST00000397393	.	.	.	5.06	-1.88	0.07713	.	.	.	.	.	T	0.28034	0.0691	.	.	.	0.19775	N	0.99996	.	.	.	.	.	.	T	0.38564	-0.9655	5	0.87932	D	0	-9.9813	1.7902	0.03049	0.3554:0.1666:0.3614:0.1166	.	.	.	.	F	98	.	ENSP00000380548:L98F	L	-	1	0	GLOD4	632575	0.000000	0.05858	0.002000	0.10522	0.011000	0.07611	0.492000	0.22435	-0.032000	0.13758	0.563000	0.77884	CTC		0.617	GLOD4-005	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000437190.1	NM_016080		3	17	0	0	0	1	0	3	17					A	685825	G	A	685825	1	1	183	0	1	0	0	0	0	0	0	0	13507	962	34	3		3	RNMTL1	17	685825	5'Flank	SNP	G	TCGA-G9-7510-01A-11D-2260-08		685825	80509385	35	8586											
TP53	7157	broad.mit.edu	37	chr17	7578271	7578271	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttccttccactcggataagaTgctgaggaggggccagacct	9	9	12	11	1	0	3	0	1	0	2	3	5	2	5	4	4	1	1	4	4	1	3			TCGA-G9-7510-01A-11D-2260-08	TCGA-G9-7510-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a7ebb7c-bb87-4bc6-8d42-00dffd9591e1	98899bed-24c3-494b-83c6-27e994e986c1	g.chr17:7578271T>C	ENST00000269305.4	-	6	767	c.578A>G	c.(577-579)cAt>cGt	p.H193R	TP53_ENST00000455263.2_Missense_Mutation_p.H193R|TP53_ENST00000413465.2_Missense_Mutation_p.H193R|TP53_ENST00000359597.4_Missense_Mutation_p.H193R|TP53_ENST00000574684.1_Intron|TP53_ENST00000445888.2_Missense_Mutation_p.H193R|TP53_ENST00000420246.2_Missense_Mutation_p.H193R	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	193	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		H -> D (in sporadic cancers; somatic mutation).|H -> L (in sporadic cancers; somatic mutation).|H -> N (in sporadic cancers; somatic mutation).|H -> P (in sporadic cancers; somatic mutation).|H -> Q (in sporadic cancers; somatic mutation).|H -> R (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7887414}.|H -> Y (in sporadic cancers; somatic mutation).|QH -> HN (in a sporadic cancer; somatic mutation).|QH -> HY (in a sporadic cancer; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.H193R(80)|p.H193L(42)|p.H193P(18)|p.0?(8)|p.?(6)|p.H61R(4)|p.H100R(4)|p.H100L(4)|p.H61L(4)|p.A189_V197delAPPQHLIRV(4)|p.P191_E198>Q(3)|p.H193fs*16(3)|p.P191fs*53(2)|p.H61P(2)|p.H100P(2)|p.A189fs*53(1)|p.P191fs*6(1)|p.H193_I195delHLI(1)|p.P59_E66>Q(1)|p.P191fs*15(1)|p.P98_E105>Q(1)|p.H193_I195>AP(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	TCGGATAAGATGCTGAGGAGG	0.562		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"Mis, N, F"	tumor protein p53			"L, E, M, O"		"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"	"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"		193	Substitution - Missense(160)|Whole gene deletion(8)|Complex - deletion inframe(6)|Unknown(6)|Deletion - In frame(5)|Deletion - Frameshift(4)|Insertion - Frameshift(3)|Complex - frameshift(1)	p.H193R(80)|p.H193L(42)|p.H193P(18)|p.0?(8)|p.?(6)|p.H61R(4)|p.H100R(4)|p.H100L(4)|p.H61L(4)|p.A189_V197delAPPQHLIRV(4)|p.P191_E198>Q(3)|p.H193fs*16(3)|p.P191fs*53(2)|p.H61P(2)|p.H100P(2)|p.A189fs*53(1)|p.P191fs*6(1)|p.H193_I195delHLI(1)|p.P59_E66>Q(1)|p.P191fs*15(1)|p.P98_E105>Q(1)|p.H193_I195>AP(1)	lung(36)|upper_aerodigestive_tract(26)|ovary(20)|breast(18)|oesophagus(14)|haematopoietic_and_lymphoid_tissue(12)|endometrium(12)|biliary_tract(10)|liver(9)|stomach(7)|central_nervous_system(6)|large_intestine(6)|urinary_tract(5)|skin(5)|bone(4)|pancreas(2)|prostate(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185	GRCh37	CM083194|CM951225	TP53	M		c.(577-579)cAt>cGt	Other conserved DNA damage response genes	tumor protein p53							97	87	90					17																	7578271		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578271T>C	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"Li-Fraumeni syndrome"	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.578A>G	17.37:g.7578271T>C	ENSP00000269305:p.His193Arg	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_ENST00000269305.4_Missense_Mutation_p.H193R|TP53_ENST00000413465.2_Missense_Mutation_p.H193R|TP53_ENST00000574684.1_Intron|TP53_ENST00000445888.2_Missense_Mutation_p.H193R|TP53_ENST00000455263.2_Missense_Mutation_p.H193R|TP53_ENST00000359597.4_Missense_Mutation_p.H193R	p.H193R	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	6	710	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	193		H -> D (in sporadic cancers; somatic mutation).|H -> L (in sporadic cancers; somatic mutation).|H -> N (in sporadic cancers; somatic mutation).|H -> P (in sporadic cancers; somatic mutation).|H -> Q (in sporadic cancers; somatic mutation).|H -> R (in LFS; germline mutation and in sporadic cancers; somatic mutation).|H -> Y (in sporadic cancers; somatic mutation).|QH -> HN (in a sporadic cancer; somatic mutation).|QH -> HY (in a sporadic cancer; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.578A>G	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	T	14.03	2.413611	0.42817	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99850	-7.16;-7.16;-7.16;-7.16;-7.16;-7.16;-7.16;-7.16	5.41	4.33	0.51752	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99825	0.9922	M	0.92738	3.34	0.58432	D	0.999992	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D	0.97536	1.0083	10	0.72032	D	0.01	-29.0766	9.707	0.40222	0.0:0.0827:0.0:0.9173	.	154;193;193;100;193;193;193	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	R	193;193;193;193;193;193;182;100;61;100;61	ENSP00000410739:H193R;ENSP00000352610:H193R;ENSP00000269305:H193R;ENSP00000398846:H193R;ENSP00000391127:H193R;ENSP00000391478:H193R;ENSP00000425104:H61R;ENSP00000423862:H100R	ENSP00000269305:H193R	H	-	2	0	TP53	7518996	1.000000	0.71417	0.814000	0.32528	0.023000	0.10783	7.996000	0.88334	1.001000	0.39076	-0.256000	0.11100	CAT		0.562	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		7	21	0	0	0	1	0	7	21					C	7578271	T	C	7578271	3	2	183	1	0	0	0	0	1	0	0	0	16378	1464	51	4	716	4	TP53	17	7578271	Missense_Mutation	SNP	T	TCGA-G9-7510-01A-11D-2260-08	6892446	7578271	73616939	36	8587											
DNAH2	146754	broad.mit.edu	37	chr17	7695606	7695606	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	attttgtggaccccaaaataCggagttggacatcatttgag	12	12	10	7	1	1	1	1	1	0	0	1	4	1	4	2	3	1	1	2	3	3	5	rs372987711		TCGA-G9-7510-01A-11D-2260-08	TCGA-G9-7510-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a7ebb7c-bb87-4bc6-8d42-00dffd9591e1	98899bed-24c3-494b-83c6-27e994e986c1	g.chr17:7695606C>T	ENST00000572933.1	+	46	8550	c.7090C>T	c.(7090-7092)Cgg>Tgg	p.R2364W	DNAH2_ENST00000389173.2_Missense_Mutation_p.R2364W			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	2364					cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				CCCCAAAATACGGAGTTGGAC	0.537																																						ENST00000572933.1																			0				NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189						c.(7090-7092)Cgg>Tgg		dynein, axonemal, heavy chain 2		C	TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	99	92	94		7090	0.2	0.1	17		94	0,8600		0,0,4300	no	missense	DNAH2	NM_020877.2	101	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	2364/4428	7695606	1,13005	2203	4300	6503	SO:0001583	missense	146754				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:7695606C>T	U83570, AK128517	CCDS32551.1	17p13.1	2007-10-05	2006-09-04			ENSG00000183914		"Axonemal dyneins"	2948	protein-coding gene	gene with protein product		603333	"dynein, axonemal, heavy polypeptide 2", "dynein heavy chain domain 3"	DNHD3		9256245	Standard	XM_005256470		Approved	KIAA1503, FLJ46675	uc002giu.1	Q9P225		ENST00000572933.1:c.7090C>T	17.37:g.7695606C>T	ENSP00000458355:p.Arg2364Trp					DNAH2_ENST00000389173.2_Missense_Mutation_p.R2364W	p.R2364W			Q9P225	DYH2_HUMAN			46	8550	+		all_cancers(10;4.66e-07)|Prostate(122;0.081)	2364					A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	Missense_Mutation	SNP	ENST00000572933.1	37	c.7090C>T	CCDS32551.1	.	.	.	.	.	.	.	.	.	.	C	14.41	2.527559	0.44969	2.27E-4	0.0	ENSG00000183914	ENST00000360606;ENST00000389173	T	0.24350	1.86	4.98	0.222	0.15288	.	0.120193	0.34580	N	0.003857	T	0.42177	0.1191	M	0.79805	2.47	0.32795	N	0.500687	D	0.59767	0.986	P	0.54460	0.753	T	0.62826	-0.6772	10	0.59425	D	0.04	.	13.6704	0.62420	0.7294:0.2705:0.0:0.0	.	2364	Q9P225	DYH2_HUMAN	W	2364	ENSP00000373825:R2364W	ENSP00000353818:R2364W	R	+	1	2	DNAH2	7636331	0.999000	0.42202	0.078000	0.20375	0.302000	0.27658	3.231000	0.51294	0.251000	0.21505	0.643000	0.83706	CGG		0.537	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440241.1	NM_020877		4	73	0	0	0	1	0	4	73					T	7695606	C	T	7695606	3	4	183	1	0	0	0	0	1	0	0	0	4602	527	19	1	7268	1	DNAH2	17	7695606	Missense_Mutation	SNP	C	TCGA-G9-7510-01A-11D-2260-08	117335	7695606	73499604	37	8588											
KIF18B	146909	broad.mit.edu	37	chr17	43012683	43012683	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgctggcgggcctccaggcGcctgtacagttccacggtgg	4	8	15	14	3	0	0	0	0	0	0	2	0	2	0	4	5	2	3	4	5	1	2			TCGA-G9-7510-01A-11D-2260-08	TCGA-G9-7510-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a7ebb7c-bb87-4bc6-8d42-00dffd9591e1	98899bed-24c3-494b-83c6-27e994e986c1	g.chr17:43012683G>A	ENST00000593135.1	-	3	512	c.415C>T	c.(415-417)Cgc>Tgc	p.R139C	KIF18B_ENST00000339151.4_Missense_Mutation_p.R139C|KIF18B_ENST00000587309.1_Missense_Mutation_p.R139C|KIF18B_ENST00000438933.2_Missense_Mutation_p.R139C|KIF18B_ENST00000590129.1_Missense_Mutation_p.R148C	NM_001265577.1	NP_001252506.1	Q86Y91	KI18B_HUMAN	kinesin family member 18B	148	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid segregation (GO:0000070)|regulation of cell division (GO:0051302)	astral microtubule (GO:0000235)|cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule plus-end (GO:0035371)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|kinesin binding (GO:0019894)|motor activity (GO:0003774)|plus-end-directed microtubule motor activity (GO:0008574)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)	21		Prostate(33;0.155)				GCCTCCAGGCGCCTGTACAGT	0.657																																						ENST00000587309.1																			0				breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)	21						c.(415-417)Cgc>Tgc		kinesin family member 18B							47	55	52					17																	43012683		1982	4140	6122	SO:0001583	missense	146909							g.chr17:43012683G>A		CCDS45709.1, CCDS58555.1, CCDS45709.2	17q21.31	2014-09-04			ENSG00000186185			"Kinesins"	27102	protein-coding gene	gene with protein product		614570				16084724	Standard	NM_001264573		Approved		uc010wjh.3	Q86Y91	OTTHUMG00000179867	ENST00000593135.1:c.415C>T	17.37:g.43012683G>A	ENSP00000465992:p.Arg139Cys					KIF18B_ENST00000339151.4_Missense_Mutation_p.R139C|KIF18B_ENST00000593135.1_Missense_Mutation_p.R139C|KIF18B_ENST00000438933.2_Missense_Mutation_p.R139C|KIF18B_ENST00000590129.1_Missense_Mutation_p.R148C	p.R139C	NM_001264573.1	NP_001251503.1					3	438	-		Prostate(33;0.155)						A6NJI2|B7ZM49|B9EGM8|D5L6I1	Missense_Mutation	SNP	ENST00000593135.1	37	c.415C>T	CCDS45709.2	.	.	.	.	.	.	.	.	.	.	G	12.49	1.952215	0.34471	.	.	ENSG00000186185	ENST00000438933;ENST00000339151;ENST00000376982	T;T	0.76060	-0.99;-0.99	5.5	4.53	0.55603	Kinesin, motor domain (4);	0.000000	0.35838	N	0.002954	T	0.74741	0.3756	M	0.65677	2.01	0.24738	N	0.993054	P;P;P	0.47350	0.894;0.87;0.698	P;B;B	0.47827	0.558;0.329;0.329	T	0.67432	-0.5672	10	0.41790	T	0.15	.	9.0664	0.36467	0.0:0.1245:0.4622:0.4133	.	148;148;148	Q86Y91;Q86Y91-3;Q86Y91-2	KI18B_HUMAN;.;.	C	139	ENSP00000412798:R139C;ENSP00000341466:R139C	ENSP00000341466:R139C	R	-	1	0	KIF18B	40368209	0.972000	0.33761	0.086000	0.20670	0.534000	0.34807	2.857000	0.48349	1.298000	0.44778	0.555000	0.69702	CGC		0.657	KIF18B-001	PUTATIVE	basic|appris_candidate|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000448724.1	NM_001080443		3	25	0	0	0	1	0	3	25					A	43012683	G	A	43012683	3	1	183	1	0	0	0	0	1	0	0	0	8281	1087	38	1	2207	1	KIF18B	17	43012683	Missense_Mutation	SNP	G	TCGA-G9-7510-01A-11D-2260-08	35317077	43012683	38182527	38	8589											
HOXB5	3215	broad.mit.edu	37	chr17	46670614	46670614	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcttagctggcttgccgctTcctcaggctccgaggacgcg	4	10	13	14	4	1	0	1	0	0	0	3	2	3	1	3	3	3	5	3	3	1	3			TCGA-G9-7510-01A-11D-2260-08	TCGA-G9-7510-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a7ebb7c-bb87-4bc6-8d42-00dffd9591e1	98899bed-24c3-494b-83c6-27e994e986c1	g.chr17:46670614T>G	ENST00000239151.5	-	1	709	c.431A>C	c.(430-432)gAa>gCa	p.E144A	HOXB-AS3_ENST00000474040.1_RNA|HOXB-AS3_ENST00000492897.3_RNA|HOXB-AS3_ENST00000474324.1_RNA|HOXB-AS3_ENST00000476204.1_RNA|HOXB-AS3_ENST00000480872.1_RNA|HOXB-AS3_ENST00000465846.2_RNA|HOXB-AS3_ENST00000477144.1_RNA|HOXB-AS3_ENST00000487849.3_RNA|HOXB3_ENST00000552000.2_Intron|HOXB-AS3_ENST00000429755.4_RNA|HOXB-AS3_ENST00000467155.2_RNA|HOXB-AS3_ENST00000460041.1_RNA|HOXB-AS3_ENST00000481995.1_RNA|HOXB3_ENST00000498678.1_5'Flank	NM_002147.3	NP_002138.1	P09067	HXB5_HUMAN	homeobox B5	144					anatomical structure morphogenesis (GO:0009653)|anterior/posterior pattern specification (GO:0009952)|embryonic skeletal system morphogenesis (GO:0048704)|endothelial cell differentiation (GO:0045446)	nucleus (GO:0005634)	RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)			large_intestine(1)|lung(2)	3						GCTTGCCGCTTCCTCAGGCTC	0.662																																						ENST00000239151.5																			0				large_intestine(1)|lung(2)	3						c.(430-432)gAa>gCa		homeobox B5							32	35	34					17																	46670614		2202	4300	6502	SO:0001583	missense	3215					nucleus	sequence-specific DNA binding	g.chr17:46670614T>G		CCDS11530.1	17q21.32	2011-06-20	2005-12-22		ENSG00000120075	ENSG00000120075		"Homeoboxes / ANTP class : HOXL subclass"	5116	protein-coding gene	gene with protein product		142960	"homeo box B5"	HOX2, HOX2A		1973146, 1358459	Standard	NM_002147		Approved		uc002inr.3	P09067	OTTHUMG00000159913	ENST00000239151.5:c.431A>C	17.37:g.46670614T>G	ENSP00000239151:p.Glu144Ala					HOXB-AS3_ENST00000474040.1_RNA|HOXB-AS3_ENST00000467155.2_RNA|HOXB-AS3_ENST00000476204.1_RNA|HOXB-AS3_ENST00000492897.3_RNA|HOXB-AS3_ENST00000429755.4_RNA|HOXB-AS3_ENST00000487849.3_RNA|HOXB-AS3_ENST00000465846.2_RNA|HOXB-AS3_ENST00000480872.1_RNA|HOXB3_ENST00000552000.2_Intron	p.E144A	NM_002147.3	NP_002138.1	P09067	HXB5_HUMAN			1	709	-			144					B2RC69|P09069|Q17RP4	Missense_Mutation	SNP	ENST00000239151.5	37	c.431A>C	CCDS11530.1	.	.	.	.	.	.	.	.	.	.	T	17.13	3.311506	0.60414	.	.	ENSG00000120075	ENST00000239151	D	0.91945	-2.94	5.31	5.31	0.75309	.	0.154247	0.56097	D	0.000030	D	0.92799	0.7710	M	0.84219	2.685	0.80722	D	1	P	0.40578	0.722	B	0.40659	0.336	D	0.93549	0.6885	10	0.66056	D	0.02	.	14.9365	0.70960	0.0:0.0:0.0:1.0	.	144	P09067	HXB5_HUMAN	A	144	ENSP00000239151:E144A	ENSP00000239151:E144A	E	-	2	0	HOXB5	44025613	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.656000	0.83736	2.007000	0.58848	0.374000	0.22700	GAA		0.662	HOXB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358148.2			4	30	0	0	0	1	0	4	30					G	46670614	T	G	46670614	3	3	183	1	0	0	0	0	1	0	0	0	7304	1783	62	5	386	5	HOXB5	17	46670614	Missense_Mutation	SNP	T	TCGA-G9-7510-01A-11D-2260-08	3657931	46670614	34524596	39	8590											
SPOP	8405	broad.mit.edu	37	chr17	47696457	47696462	+	In_Frame_Del	DEL	TGCCCG	TGCCCG	-																															ttgccttgcacaaacctataTgcccgttgactctctggggt																										TCGA-G9-7510-01A-11D-2260-08	TCGA-G9-7510-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a7ebb7c-bb87-4bc6-8d42-00dffd9591e1	98899bed-24c3-494b-83c6-27e994e986c1	g.chr17:47696457_47696462delTGCCCG	ENST00000393328.2	-	6	726_731	c.361_366delCGGGCA	c.(361-366)cgggcadel	p.RA121del	SPOP_ENST00000347630.2_In_Frame_Del_p.RA121del|SPOP_ENST00000393331.3_In_Frame_Del_p.RA121del|SPOP_ENST00000504102.1_In_Frame_Del_p.RA121del|SPOP_ENST00000513080.1_5'Flank|SPOP_ENST00000503676.1_In_Frame_Del_p.RA121del	NM_003563.3	NP_003554.1	O43791	SPOP_HUMAN	speckle-type POZ protein	121	MATH. {ECO:0000255|PROSITE- ProRule:PRU00129}.|Required for nuclear localization.				glucose homeostasis (GO:0042593)|positive regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902237)|positive regulation of type B pancreatic cell apoptotic process (GO:2000676)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	Cul3-RING ubiquitin ligase complex (GO:0031463)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	ubiquitin protein ligase binding (GO:0031625)	p.R121Q(1)|p.A122delA(1)		endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						CAAACCTATATGCCCGTTGACTCTCT	0.427										Prostate(2;0.17)																												ENST00000393331.3																			2	Substitution - Missense(1)|Deletion - In frame(1)	p.R121Q(1)|p.A122delA(1)	prostate(1)|endometrium(1)	endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						c.(361-366)del		speckle-type POZ protein																																				SO:0001651	inframe_deletion	8405				mRNA processing	nucleus	protein binding	g.chr17:47696457_47696462delTGCCCG	AJ000644	CCDS11551.1	17q21.33	2013-01-09			ENSG00000121067	ENSG00000121067		"BTB/POZ domain containing"	11254	protein-coding gene	gene with protein product		602650				9414087	Standard	NM_001007227		Approved	TEF2, BTBD32	uc002ipg.3	O43791	OTTHUMG00000161496	ENST00000393328.2:c.361_366delCGGGCA	17.37:g.47696457_47696462delTGCCCG	ENSP00000377001:p.Arg121_Ala122del	Prostate(2;0.17)				SPOP_ENST00000504102.1_In_Frame_Del_p.RA121del|SPOP_ENST00000503676.1_In_Frame_Del_p.RA121del|SPOP_ENST00000393328.2_In_Frame_Del_p.RA121del|SPOP_ENST00000347630.2_In_Frame_Del_p.RA121del	p.RA121del	NM_001007226.1|NM_001007227.1	NP_001007227.1|NP_001007228.1	O43791	SPOP_HUMAN			7	831_836	-			121			MATH.|Required for nuclear localization.		B2R6S3|D3DTW7|Q53HJ1	In_Frame_Del	DEL	ENST00000393328.2	37	c.361_366delCGGGCA	CCDS11551.1																																																																																				0.427	SPOP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365154.2	NM_003563		8	102						8	102	---	---	---	---	-	47696462	TGCCCG	-	47696457	7	5	183	1	0	1	0	1	0	0	0	0	15083	1451	51	0	782	0	SPOP	17	47696457	In_Frame_Del	DEL	TGCCCG	TCGA-G9-7510-01A-11D-2260-08	1025843	47696457	33498753	40	8591											
CPT1C	126129	broad.mit.edu	37	chr19	50204808	50204808	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aggacttcgactggaccgcgGtcctggcgcaggaattcctg	7	8	14	12	4	0	0	0	0	0	0	3	4	2	3	3	5	0	1	3	5	1	2			TCGA-G9-7510-01A-11D-2260-08	TCGA-G9-7510-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a7ebb7c-bb87-4bc6-8d42-00dffd9591e1	98899bed-24c3-494b-83c6-27e994e986c1	g.chr19:50204808G>A	ENST00000392518.4	+	7	982	c.610G>A	c.(610-612)Gtc>Atc	p.V204I	CPT1C_ENST00000323446.5_Missense_Mutation_p.V204I|CPT1C_ENST00000405931.2_Missense_Mutation_p.V204I|CPT1C_ENST00000598293.1_Missense_Mutation_p.V204I|CPT1C_ENST00000354199.5_Missense_Mutation_p.V204I	NM_001199752.1	NP_001186681.1	Q8TCG5	CPT1C_HUMAN	carnitine palmitoyltransferase 1C	204					carnitine metabolic process (GO:0009437)|fatty acid beta-oxidation (GO:0006635)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|endoplasmic reticulum membrane (GO:0005789)|mitochondrial outer membrane (GO:0005741)|synapse (GO:0045202)	carnitine O-palmitoyltransferase activity (GO:0004095)			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.00786)		CTGGACCGCGGTCCTGGCGCA	0.677																																						ENST00000392518.4																			0				breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(610-612)Gtc>Atc		carnitine palmitoyltransferase 1C							40	36	37					19																	50204808		2203	4300	6503	SO:0001583	missense	126129				fatty acid metabolic process	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity	g.chr19:50204808G>A	AF357970	CCDS12779.1, CCDS46147.1	19q13.33	2014-03-14				ENSG00000169169			18540	protein-coding gene	gene with protein product		608846				12376098, 11001805	Standard	NM_001136052		Approved	FLJ23809, CPTIC, CPT1P	uc010eng.3	Q8TCG5		ENST00000392518.4:c.610G>A	19.37:g.50204808G>A	ENSP00000376303:p.Val204Ile					CPT1C_ENST00000354199.5_Missense_Mutation_p.V204I|CPT1C_ENST00000323446.5_Missense_Mutation_p.V204I|CPT1C_ENST00000405931.2_Missense_Mutation_p.V204I|CPT1C_ENST00000598293.1_Missense_Mutation_p.V204I	p.V204I	NM_001199752.1	NP_001186681.1	Q8TCG5	CPT1C_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.00786)	7	982	+		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)	204					A8K0Z8|Q5K6N5|Q8N6Q9|Q8NDS6|Q8TE84	Missense_Mutation	SNP	ENST00000392518.4	37	c.610G>A	CCDS12779.1	.	.	.	.	.	.	.	.	.	.	G	12.09	1.833131	0.32421	.	.	ENSG00000169169	ENST00000392518;ENST00000354199;ENST00000405931;ENST00000323446;ENST00000295404	D;D;D;D	0.88896	-2.44;-2.44;-2.44;-2.44	4.39	3.32	0.38043	.	1.497360	0.04512	N	0.383082	D	0.84352	0.5453	N	0.20986	0.625	0.09310	N	1	B;B;B;B	0.19817	0.01;0.039;0.0;0.0	B;B;B;B	0.20955	0.021;0.032;0.003;0.005	T	0.69602	-0.5101	10	0.38643	T	0.18	-0.9009	13.3462	0.60575	0.0:0.1603:0.8397:0.0	.	42;204;204;204	C9IY45;Q8TCG5-3;Q8TCG5-2;Q8TCG5	.;.;.;CPT1C_HUMAN	I	204;204;204;204;42	ENSP00000376303:V204I;ENSP00000346138:V204I;ENSP00000384465:V204I;ENSP00000319343:V204I	ENSP00000295404:V42I	V	+	1	0	CPT1C	54896620	0.007000	0.16637	0.006000	0.13384	0.885000	0.51271	1.541000	0.36126	1.175000	0.42826	0.542000	0.68232	GTC		0.677	CPT1C-008	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465873.1	NM_152359		3	41	0	0	0	1	0	3	41					A	50204808	G	A	50204808	3	1	183	1	0	0	0	0	1	0	0	0	3833	1261	44	3	628	3	CPT1C	19	50204808	Missense_Mutation	SNP	G	TCGA-G9-7510-01A-11D-2260-08		50204808	8924175	41	8592											
NLRP4	147945	broad.mit.edu	37	chr19	56372782	56372782	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcctcatctgttggcatcaCatctgctctgtgctcaccac	7	12	7	15	0	6	0	3	0	3	0	6	0	6	0	2	1	3	4	2	1	0	1			TCGA-G9-7510-01A-11D-2260-08	TCGA-G9-7510-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a7ebb7c-bb87-4bc6-8d42-00dffd9591e1	98899bed-24c3-494b-83c6-27e994e986c1	g.chr19:56372782C>A	ENST00000301295.6	+	4	2309	c.1887C>A	c.(1885-1887)caC>caA	p.H629Q	NLRP4_ENST00000587891.1_Missense_Mutation_p.H554Q|NLRP4_ENST00000346986.5_Missense_Mutation_p.H629Q	NM_134444.4	NP_604393.2	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	629					inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of type I interferon production (GO:0032481)|regulation of type I interferon production (GO:0032479)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		GTTGGCATCACATCTGCTCTG	0.562																																						ENST00000301295.6																			0				breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42						c.(1885-1887)caC>caA		NLR family, pyrin domain containing 4							121	95	104					19																	56372782		2203	4300	6503	SO:0001583	missense	147945						ATP binding	g.chr19:56372782C>A	AF479747	CCDS12936.1	19q13.43	2009-03-27	2006-12-08	2006-12-08				"Nucleotide-binding domain and leucine rich repeat containing"	22943	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 4", "cancer/testis antigen 58"	609645	"NACHT, leucine rich repeat and PYD containing 4"	NALP4		12563287, 12019269	Standard	NM_134444		Approved	PYPAF4, FLJ32126, PAN2, RNH2, CLR19.5, CT58	uc002qmd.4	Q96MN2		ENST00000301295.6:c.1887C>A	19.37:g.56372782C>A	ENSP00000301295:p.His629Gln					NLRP4_ENST00000346986.5_Missense_Mutation_p.H629Q|NLRP4_ENST00000587891.1_Missense_Mutation_p.H554Q	p.H629Q	NM_134444.4	NP_604393.2	Q96MN2	NALP4_HUMAN		GBM - Glioblastoma multiforme(193;0.0606)	4	2309	+		Colorectal(82;0.0002)|Ovarian(87;0.221)	629					Q86W87|Q96AY6	Missense_Mutation	SNP	ENST00000301295.6	37	c.1887C>A	CCDS12936.1	.	.	.	.	.	.	.	.	.	.	C	7.297	0.612227	0.14066	.	.	ENSG00000160505	ENST00000301295;ENST00000346986	D;D	0.86366	-2.11;-2.11	4.49	-8.97	0.00758	.	.	.	.	.	T	0.65595	0.2706	N	0.11064	0.09	0.09310	N	1	B;B;B	0.24768	0.041;0.111;0.068	B;B;B	0.22386	0.032;0.039;0.018	T	0.55805	-0.8083	9	0.21014	T	0.42	.	3.946	0.09349	0.1012:0.1902:0.1285:0.5801	.	629;554;629	Q96MN2-2;Q96MN2-3;Q96MN2	.;.;NALP4_HUMAN	Q	629	ENSP00000301295:H629Q;ENSP00000344787:H629Q	ENSP00000301295:H629Q	H	+	3	2	NLRP4	61064594	0.000000	0.05858	0.000000	0.03702	0.037000	0.13140	-1.581000	0.02119	-1.920000	0.01069	-0.150000	0.13652	CAC		0.562	NLRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457367.2	NM_134444		7	52	1	0	0.00448238	1	0.00465478	7	52					A	56372782	C	A	56372782	3	1	183	1	0	0	0	0	1	0	0	0	10479	477	17	5	1897	5	NLRP4	19	56372782	Missense_Mutation	SNP	C	TCGA-G9-7510-01A-11D-2260-08	6167974	56372782	2756201	42	8593											
CDC25B	994	broad.mit.edu	37	chr20	3778319	3778319	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctcttccgcagccgcagccGcctgacgcacctatccctgt	5	8	9	19	4	1	1	0	1	1	0	3	1	3	1	6	0	2	4	6	0	1	2			TCGA-G9-7510-01A-11D-2260-08	TCGA-G9-7510-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a7ebb7c-bb87-4bc6-8d42-00dffd9591e1	98899bed-24c3-494b-83c6-27e994e986c1	g.chr20:3778319G>A	ENST00000245960.5	+	2	948	c.251G>A	c.(250-252)cGc>cAc	p.R84H	CDC25B_ENST00000379598.5_Missense_Mutation_p.R20H|CDC25B_ENST00000439880.2_Missense_Mutation_p.R70H|CDC25B_ENST00000344256.6_Missense_Mutation_p.R20H|CDC25B_ENST00000340833.4_Missense_Mutation_p.R84H|CDC25B_ENST00000467519.1_3'UTR	NM_004358.3|NM_021872.2|NM_021873.2	NP_004349.1|NP_068658.1|NP_068659.1	P30305	MPIP2_HUMAN	cell division cycle 25B	84					female meiosis I (GO:0007144)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|oocyte maturation (GO:0001556)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokinesis (GO:0032467)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of protein kinase activity (GO:0045860)|protein phosphorylation (GO:0006468)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle pole (GO:0000922)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)			NS(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(1)	18						AGCCGCAGCCGCCTGACGCAC	0.622																																						ENST00000245960.5																			0				NS(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(1)	18						c.(250-252)cGc>cAc		cell division cycle 25B							72	73	73					20																	3778319		2203	4300	6503	SO:0001583	missense	994				cell division|G2/M transition of mitotic cell cycle|mitosis|positive regulation of cell proliferation	cytosol|microtubule organizing center|nucleoplasm	protein binding|protein tyrosine phosphatase activity	g.chr20:3778319G>A		CCDS13065.1, CCDS13066.1, CCDS13067.1, CCDS74700.1, CCDS74701.1	20p13	2013-01-17	2013-01-17		ENSG00000101224	ENSG00000101224		"Protein tyrosine phosphatases / Class III Cys-based PTPs"	1726	protein-coding gene	gene with protein product		116949	"cell division cycle 25B", "cell division cycle 25 homolog B (S. cerevisiae)", "cell division cycle 25 homolog B (S. pombe)"			1836978	Standard	NM_021873		Approved		uc002wjn.3	P30305	OTTHUMG00000031764	ENST00000245960.5:c.251G>A	20.37:g.3778319G>A	ENSP00000245960:p.Arg84His					CDC25B_ENST00000439880.2_Missense_Mutation_p.R70H|CDC25B_ENST00000467519.1_3'UTR|CDC25B_ENST00000340833.4_Missense_Mutation_p.R84H|CDC25B_ENST00000344256.6_Missense_Mutation_p.R20H|CDC25B_ENST00000379598.5_Missense_Mutation_p.R20H	p.R84H	NM_004358.3|NM_021872.2|NM_021873.2	NP_004349.1|NP_068658.1|NP_068659.1	P30305	MPIP2_HUMAN			2	948	+			84					D3DVY1|D3DVY2|D3DVY3|D3DVY4|O43551|Q13971|Q5JX77|Q6RSS1|Q9BRA6	Missense_Mutation	SNP	ENST00000245960.5	37	c.251G>A	CCDS13067.1	.	.	.	.	.	.	.	.	.	.	G	13.97	2.396576	0.42512	.	.	ENSG00000101224	ENST00000344256;ENST00000379598;ENST00000245960;ENST00000439880;ENST00000340833	T;T;T;T;T	0.16196	2.41;2.37;2.36;2.47;2.37	1.49	-1.76	0.08006	.	1.057050	0.07469	N	0.901959	T	0.19087	0.0458	N	0.22421	0.69	0.09310	N	1	D;D;D;P;P;P	0.65815	0.995;0.976;0.995;0.938;0.939;0.919	P;P;D;P;B;B	0.69479	0.84;0.522;0.964;0.511;0.381;0.29	T	0.26710	-1.0095	10	0.25106	T	0.35	-0.3898	2.4655	0.04552	0.251:0.3215:0.4275:0.0	.	20;6;20;84;70;84	B4DQZ3;B4DRC3;B4DIG0;P30305-3;P30305-2;P30305	.;.;.;.;.;MPIP2_HUMAN	H	20;20;84;70;84	ENSP00000339125:R20H;ENSP00000368918:R20H;ENSP00000245960:R84H;ENSP00000405972:R70H;ENSP00000339170:R84H	ENSP00000245960:R84H	R	+	2	0	CDC25B	3726319	0.001000	0.12720	0.010000	0.14722	0.016000	0.09150	-0.160000	0.10041	-0.101000	0.12219	0.313000	0.20887	CGC		0.622	CDC25B-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077779.2	NM_021874		3	106	0	0	0	1	0	3	106					A	3778319	G	A	3778319	3	1	183	1	0	0	0	0	1	0	0	0	3063	1087	38	1	257	1	CDC25B	20	3778319	Missense_Mutation	SNP	G	TCGA-G9-7510-01A-11D-2260-08		3778319	59247201	43	8594											
COL18A1	80781	broad.mit.edu	37	chr21	46888376	46888377	+	Frame_Shift_Del	DEL	CG	CG	-																															gagggcccaggggtgctgttCgccatcacggactcggcgca																								rs564820524		TCGA-G9-7510-01A-11D-2260-08	TCGA-G9-7510-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a7ebb7c-bb87-4bc6-8d42-00dffd9591e1	98899bed-24c3-494b-83c6-27e994e986c1	g.chr21:46888376_46888377delCG	ENST00000359759.4	+	2	1593_1594	c.1572_1573delCG	c.(1570-1575)ttcgccfs	p.A525fs	COL18A1_ENST00000355480.5_Frame_Shift_Del_p.A290fs|COL18A1_ENST00000400337.2_Frame_Shift_Del_p.A110fs			P39060	COIA1_HUMAN	collagen, type XVIII, alpha 1	525	Laminin G-like.				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|endothelial cell morphogenesis (GO:0001886)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of cell proliferation (GO:0008285)|organ morphogenesis (GO:0009887)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell apoptotic process (GO:2000353)|response to drug (GO:0042493)|response to hydrostatic pressure (GO:0051599)|visual perception (GO:0007601)	basement membrane (GO:0005604)|collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|structural molecule activity (GO:0005198)			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25				Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929)		GGGTGCTGTTCGCCATCACGGA	0.639																																						ENST00000359759.4																			0				breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25						c.(1570-1575)ttccfs		collagen, type XVIII, alpha 1																																				SO:0001589	frameshift_variant	80781				cell adhesion|negative regulation of cell proliferation|organ morphogenesis|visual perception	collagen|extracellular space	extracellular matrix structural constituent|metal ion binding|protein binding	g.chr21:46888376_46888377delCG		CCDS42971.1, CCDS42972.1	21q22.3	2013-01-16			ENSG00000182871	ENSG00000182871		"Collagens"	2195	protein-coding gene	gene with protein product	"endostatin"	120328	"Knobloch syndrome, type 1"	KNO		8188291, 8776601, 10942434, 17546652	Standard	NM_130445		Approved	KS, KNO1	uc002zhi.3	P39060	OTTHUMG00000090407	ENST00000359759.4:c.1572_1573delCG	21.37:g.46888376_46888377delCG	ENSP00000352798:p.Ala525fs					COL18A1_ENST00000400337.2_Frame_Shift_Del_p.FA109fs|COL18A1_ENST00000355480.5_Frame_Shift_Del_p.FA289fs	p.FA524fs			P39060	COIA1_HUMAN		Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929)	2	1593_1594	+			524			TSP N-terminal.		A8MVI4|Q58EX6|Q6RZ39|Q6RZ40|Q6RZ41|Q8N4S4|Q8WXI5|Q96T70|Q9UK38|Q9Y6Q7|Q9Y6Q8	Frame_Shift_Del	DEL	ENST00000359759.4	37	c.1572_1573delCG																																																																																					0.639	COL18A1-201	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000206827.1			10	144						10	144	---	---	---	---	-	46888377	CG	-	46888376	7	5	183	1	0	1	0	1	0	0	0	0	3675	883	31	0	1692	0	COL18A1	21	46888376	Frame_Shift_Del	DEL	CG	TCGA-G9-7510-01A-11D-2260-08		46888376	1241519	44	8595											
TTC38	55020	broad.mit.edu	37	chr22	46685404	46685404	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaccctgaccgcgtcctggaGctgctcctgcccatccgcta	6	8	9	18	3	0	1	0	1	0	0	3	2	3	2	6	1	4	3	6	1	2	1			TCGA-G9-7510-01A-11D-2260-08	TCGA-G9-7510-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a7ebb7c-bb87-4bc6-8d42-00dffd9591e1	98899bed-24c3-494b-83c6-27e994e986c1	g.chr22:46685404G>A	ENST00000381031.3	+	12	1264	c.1188G>A	c.(1186-1188)gaG>gaA	p.E396E	TTC38_ENST00000445282.2_Silent_p.E338E	NM_017931.2	NP_060401	Q5R3I4	TTC38_HUMAN	tetratricopeptide repeat domain 38	396						extracellular vesicular exosome (GO:0070062)				endometrium(4)|large_intestine(3)|lung(4)|ovary(1)	12						GCGTCCTGGAGCTGCTCCTGC	0.711																																						ENST00000381031.3																			0				endometrium(4)|large_intestine(3)|lung(4)|ovary(1)	12						c.(1186-1188)gaG>gaA		tetratricopeptide repeat domain 38							22	28	26					22																	46685404		2046	4202	6248	SO:0001819	synonymous_variant	55020						binding	g.chr22:46685404G>A		CCDS43030.1	22q13	2013-01-11			ENSG00000075234	ENSG00000075234		"Tetratricopeptide (TTC) repeat domain containing"	26082	protein-coding gene	gene with protein product							Standard	NM_017931		Approved	FLJ20699	uc003bhi.3	Q5R3I4	OTTHUMG00000150494	ENST00000381031.3:c.1188G>A	22.37:g.46685404G>A						TTC38_ENST00000445282.2_Silent_p.E338E	p.E396E	NM_017931.2	NP_060401.2	Q5R3I4	TTC38_HUMAN			12	1264	+			396					Q8WV27|Q9NWP8	Silent	SNP	ENST00000381031.3	37	c.1188G>A	CCDS43030.1																																																																																				0.711	TTC38-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000318469.1	NM_017931		10	60	0	0	0	1	0	10	60					A	46685404	G	A	46685404	2	1	183	1	0	0	0	0	0	0	0	1	16703	962	34	3		3	TTC38	22	46685404	Silent	SNP	G	TCGA-G9-7510-01A-11D-2260-08		46685404	4619162	45	8596											
HUWE1	10075	broad.mit.edu	37	chrX	53618049	53618049	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggtgttcaacagtgcctccaTtgcatgttcccttgtgaagc	7	13	10	11	0	1	1	1	1	0	0	3	1	3	1	3	1	4	3	3	1	2	4			TCGA-G9-7510-01A-11D-2260-08	TCGA-G9-7510-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a7ebb7c-bb87-4bc6-8d42-00dffd9591e1	98899bed-24c3-494b-83c6-27e994e986c1	g.chrX:53618049T>C	ENST00000342160.3	-	33	4463	c.4006A>G	c.(4006-4008)Atg>Gtg	p.M1336V	HUWE1_ENST00000218328.8_Missense_Mutation_p.M1336V|HUWE1_ENST00000262854.6_Missense_Mutation_p.M1336V			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	1336	UBA. {ECO:0000255|PROSITE- ProRule:PRU00212}.				base-excision repair (GO:0006284)|cell differentiation (GO:0030154)|histone ubiquitination (GO:0016574)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						AGTGCCTCCATTGCATGTTCC	0.468																																						ENST00000342160.3																			0				NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						c.(4006-4008)Atg>Gtg		HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase							163	128	140					X																	53618049		2203	4300	6503	SO:0001583	missense	10075				base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity	g.chrX:53618049T>C	AB071605	CCDS35301.1	Xp11.22	2014-06-09	2012-02-23		ENSG00000086758	ENSG00000086758			30892	protein-coding gene	gene with protein product		300697	"HECT, UBA and WWE domain containing 1"			9205841, 10998601	Standard	NM_031407		Approved	Ib772, KIAA0312, UREB1	uc004dsp.4	Q7Z6Z7	OTTHUMG00000021617	ENST00000342160.3:c.4006A>G	X.37:g.53618049T>C	ENSP00000340648:p.Met1336Val					HUWE1_ENST00000262854.6_Missense_Mutation_p.M1336V|HUWE1_ENST00000218328.8_Missense_Mutation_p.M1336V	p.M1336V			Q7Z6Z7	HUWE1_HUMAN			33	4463	-			1336			UBA.		O15029|Q4G2Z2|Q5H961|Q6P4D0|Q8NG67|Q9BUI0|Q9HCJ4|Q9NSL6|Q9P0A9	Missense_Mutation	SNP	ENST00000342160.3	37	c.4006A>G	CCDS35301.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	4.274|4.274	0.049896|0.049896	0.08243|0.08243	.|.	.|.	ENSG00000086758|ENSG00000086758	ENST00000342160;ENST00000262854;ENST00000218328|ENST00000427052	T;T;T|.	0.18657|.	2.2;2.2;2.2|.	5.54|5.54	5.54|5.54	0.83059|0.83059	Ubiquitin-associated/translation elongation factor EF1B, N-terminal, eukaryote (2);Ubiquitin-associated/translation elongation factor EF1B, N-terminal (1);UBA-like (1);|.	0.106122|.	0.64402|.	D|.	0.000015|.	T|T	0.16214|0.16214	0.0390|0.0390	N|N	0.01209|0.01209	-0.955|-0.955	0.34257|0.34257	D|D	0.679483|0.679483	B;B|.	0.15930|.	0.015;0.012|.	B;B|.	0.21151|.	0.033;0.02|.	T|T	0.30534|0.30534	-0.9975|-0.9975	10|5	0.07030|.	T|.	0.85|.	.|.	9.8735|9.8735	0.41189|0.41189	0.0:0.0:0.1693:0.8307|0.0:0.0:0.1693:0.8307	.|.	1336;1336|.	Q7Z6Z7;Q7Z6Z7-2|.	HUWE1_HUMAN;.|.	V|S	1336|369	ENSP00000340648:M1336V;ENSP00000262854:M1336V;ENSP00000218328:M1336V|.	ENSP00000218328:M1336V|.	M|N	-|-	1|2	0|0	HUWE1|HUWE1	53634774|53634774	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	4.621000|4.621000	0.61233|0.61233	1.858000|1.858000	0.53909|0.53909	0.441000|0.441000	0.28932|0.28932	ATG|AAT		0.468	HUWE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056766.1	XM_497119		4	12	0	0	0	1	0	4	12					C	53618049	T	C	53618049	3	2	183	1	0	0	0	0	1	0	0	0	7461	1493	52	4	9322	4	HUWE1	23	53618049	Missense_Mutation	SNP	T	TCGA-G9-7510-01A-11D-2260-08		53618049	101652511	46	8597											
HMGB3	3149	broad.mit.edu	37	chrX	150156360	150156360	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaagaggaggaggaagaagaGgaggaggaggaggaggagga	17	0	24	0	0	0	3	0	0	0	3	0	14	0	13	0	10	0	0	0	10	3	0			TCGA-G9-7510-01A-11D-2260-08	TCGA-G9-7510-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a7ebb7c-bb87-4bc6-8d42-00dffd9591e1	98899bed-24c3-494b-83c6-27e994e986c1	g.chrX:150156360G>A	ENST00000325307.7	+	5	672	c.576G>A	c.(574-576)gaG>gaA	p.E192E	HMGB3_ENST00000448905.2_Silent_p.E192E	NM_005342.2	NP_005333.2	O15347	HMGB3_HUMAN	high mobility group box 3	192	Asp/Glu-rich (acidic).				DNA recombination (GO:0006310)|multicellular organismal development (GO:0007275)	chromosome (GO:0005694)|nucleus (GO:0005634)	DNA binding, bending (GO:0008301)|double-stranded DNA binding (GO:0003690)|poly(A) RNA binding (GO:0044822)	p.E192E(1)		endometrium(3)|large_intestine(2)|lung(2)|skin(1)	8	Acute lymphoblastic leukemia(192;6.56e-05)					aggaagaagaggaggaggagg	0.443																																						ENST00000325307.7																			1	Substitution - coding silent(1)	p.E192E(1)	large_intestine(1)	endometrium(3)|large_intestine(2)|lung(2)|skin(1)	8						c.(574-576)gaG>gaA		high mobility group box 3							50	48	49					X																	150156360		2202	4299	6501	SO:0001819	synonymous_variant	3149				DNA recombination|multicellular organismal development	chromosome|nucleus	DNA bending activity|double-stranded DNA binding	g.chrX:150156360G>A	AF274572	CCDS35428.1	Xq28	2011-07-01	2011-04-05	2002-08-16	ENSG00000029993	ENSG00000029993		"High-mobility group / Canonical"	5004	protein-coding gene	gene with protein product	"non-histone chromosomal protein"	300193	"high-mobility group (nonhistone chromosomal) protein 4", "high-mobility group box 3"	HMG4		9598312	Standard	XM_005274665		Approved	HMG2A, MGC90319	uc004fep.3	O15347	OTTHUMG00000024162	ENST00000325307.7:c.576G>A	X.37:g.150156360G>A						HMGB3_ENST00000448905.2_Silent_p.E192E	p.E192E	NM_005342.2	NP_005333.2	O15347	HMGB3_HUMAN			5	672	+	Acute lymphoblastic leukemia(192;6.56e-05)		192			Asp/Glu-rich (acidic).		O95556|Q6NS40	Silent	SNP	ENST00000325307.7	37	c.576G>A	CCDS35428.1																																																																																				0.443	HMGB3-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060867.1	NM_005342		3	30	0	0	0	1	0	3	30					A	150156360	G	A	150156360	2	1	183	1	0	0	0	0	0	0	0	1	7227	991	35	3		3	HMGB3	23	150156360	Silent	SNP	G	TCGA-G9-7510-01A-11D-2260-08	96538311	150156360	5114200	47	8598											
TEKT2	27285	broad.mit.edu	37	chr1	36553404	36553404	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgaagcagaagctggcgcaaGcacagtaggtctcgggagtg	11	6	16	8	2	1	2	0	1	1	1	2	3	1	3	0	3	3	5	0	3	4	1			TCGA-G9-7519-01A-11D-2260-08	TCGA-G9-7519-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81dd038c-ba90-481c-90dc-c89b3048fc99	91e00401-e16e-4067-ae4d-28fce0a0425e	g.chr1:36553404G>A	ENST00000207457.3	+	9	1202	c.1075G>A	c.(1075-1077)Gca>Aca	p.A359T	ADPRHL2_ENST00000373178.4_5'Flank	NM_014466.2	NP_055281.2	Q9UIF3	TEKT2_HUMAN	tektin 2 (testicular)	359					cell projection organization (GO:0030030)|inner dynein arm assembly (GO:0036159)|sperm motility (GO:0030317)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|motile cilium (GO:0031514)|nucleus (GO:0005634)				breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(2)|pancreas(1)|skin(2)	13		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				GCTGGCGCAAGCACAGTAGGT	0.632																																						ENST00000207457.3																			0				breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(2)|pancreas(1)|skin(2)	13						c.(1075-1077)Gca>Aca		tektin 2 (testicular)							51	46	47					1																	36553404		2203	4300	6503	SO:0001583	missense	27285				cell projection organization|microtubule cytoskeleton organization	actin cytoskeleton|cilium axoneme|flagellar axoneme|focal adhesion|microtubule|nucleolus		g.chr1:36553404G>A	AB033823	CCDS401.1	1p34.3	2008-02-05			ENSG00000092850	ENSG00000092850			11725	protein-coding gene	gene with protein product		608953				12029069, 11751288	Standard	NM_014466		Approved	TEKTB1	uc001bzr.3	Q9UIF3	OTTHUMG00000007629	ENST00000207457.3:c.1075G>A	1.37:g.36553404G>A	ENSP00000207457:p.Ala359Thr						p.A359T	NM_014466.2	NP_055281.2	Q9UIF3	TEKT2_HUMAN			9	1202	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)	359					A6NIS6|O60638	Missense_Mutation	SNP	ENST00000207457.3	37	c.1075G>A	CCDS401.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.55|14.55	2.569995|2.569995	0.45798|0.45798	.|.	.|.	ENSG00000092850|ENSG00000092850	ENST00000207457|ENST00000473120	T|.	0.03330|.	3.97|.	4.99|4.99	0.124|0.124	0.14714|0.14714	.|.	0.295098|.	0.36815|.	N|.	0.002400|.	T|T	0.45558|0.45558	0.1348|0.1348	L|L	0.44542|0.44542	1.39|1.39	0.34705|0.34705	D|D	0.727165|0.727165	B|.	0.24576|.	0.106|.	B|.	0.34385|.	0.181|.	T|T	0.52866|0.52866	-0.8518|-0.8518	10|5	0.42905|.	T|.	0.14|.	.|.	5.9611|5.9611	0.19301|0.19301	0.2132:0.0:0.5196:0.2672|0.2132:0.0:0.5196:0.2672	.|.	359|.	Q9UIF3|.	TEKT2_HUMAN|.	T|N	359|94	ENSP00000207457:A359T|.	ENSP00000207457:A359T|.	A|S	+|+	1|2	0|0	TEKT2|TEKT2	36325991|36325991	0.122000|0.122000	0.22280|0.22280	0.936000|0.936000	0.37596|0.37596	0.805000|0.805000	0.45488|0.45488	0.112000|0.112000	0.15479|0.15479	0.726000|0.726000	0.32339|0.32339	0.563000|0.563000	0.77884|0.77884	GCA|AGC		0.632	TEKT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000020200.1	NM_014466		4	31	0	0	0	1	0	4	31					A	36553404	G	A	36553404	3	1	184	1	0	0	0	0	1	0	0	0	15750	971	34	3	1105	3	TEKT2	1	36553404	Missense_Mutation	SNP	G	TCGA-G9-7519-01A-11D-2260-08		36553404	212697217	1	8599											
NES	10763	broad.mit.edu	37	chr1	156647011	156647011	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtaggcctccaggcgccgatTgagctcccacatctgaaacg	9	7	11	14	3	1	2	0	2	1	0	3	3	3	2	4	2	2	2	4	2	2	2			TCGA-G9-7519-01A-11D-2260-08	TCGA-G9-7519-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81dd038c-ba90-481c-90dc-c89b3048fc99	91e00401-e16e-4067-ae4d-28fce0a0425e	g.chr1:156647011T>C	ENST00000368223.3	-	1	178	c.46A>G	c.(46-48)Aat>Gat	p.N16D		NM_006617.1	NP_006608.1	P48681	NEST_HUMAN	nestin	16	Coil 1A.|Rod.				brain development (GO:0007420)|cell projection morphogenesis (GO:0048858)|central nervous system development (GO:0007417)|embryonic camera-type eye development (GO:0031076)|G2/M transition of mitotic cell cycle (GO:0000086)|negative regulation of catalytic activity (GO:0043086)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of protein binding (GO:0032091)|positive regulation of intermediate filament depolymerization (GO:0030844)|positive regulation of neural precursor cell proliferation (GO:2000179)|stem cell proliferation (GO:0072089)	cytoplasm (GO:0005737)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)	intermediate filament binding (GO:0019215)|structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4)	64	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					AGGCGCCGATTGAGCTCCCAC	0.672																																						ENST00000368223.3																			0				central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4)	64						c.(46-48)Aat>Gat		nestin							13	16	15					1																	156647011		2050	4197	6247	SO:0001583	missense	10763				brain development|embryonic camera-type eye development|G2/M transition of mitotic cell cycle|negative regulation of apoptosis|positive regulation of intermediate filament depolymerization|positive regulation of neural precursor cell proliferation|stem cell proliferation	cytoplasm|intermediate filament	intermediate filament binding|structural molecule activity	g.chr1:156647011T>C	X65964	CCDS1151.1	1q23	2013-01-16			ENSG00000132688	ENSG00000132688		"Intermediate filaments type IV"	7756	protein-coding gene	gene with protein product		600915				1478958, 9104587	Standard	NM_006617		Approved	FLJ21841	uc001fpq.3	P48681	OTTHUMG00000034299	ENST00000368223.3:c.46A>G	1.37:g.156647011T>C	ENSP00000357206:p.Asn16Asp						p.N16D	NM_006617.1	NP_006608.1	P48681	NEST_HUMAN			1	178	-	all_hematologic(923;0.088)|Hepatocellular(266;0.158)		16			Coil 1A.|Rod.		O00552|Q3LIF5|Q5SYZ6	Missense_Mutation	SNP	ENST00000368223.3	37	c.46A>G	CCDS1151.1	.	.	.	.	.	.	.	.	.	.	T	32	5.132962	0.94517	.	.	ENSG00000132688	ENST00000368223;ENST00000255024	D	0.96554	-4.05	4.98	4.98	0.66077	Filament (1);	.	.	.	.	D	0.98005	0.9343	M	0.88640	2.97	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.99177	1.0866	9	0.87932	D	0	.	13.4842	0.61355	0.0:0.0:0.0:1.0	.	16	P48681	NEST_HUMAN	D	16	ENSP00000357206:N16D	ENSP00000255024:N16D	N	-	1	0	NES	154913635	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.452000	0.66638	1.841000	0.53522	0.379000	0.24179	AAT		0.672	NES-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000082844.2	NM_006617		5	28	0	0	0	1	0	5	28					C	156647011	T	C	156647011	3	2	184	1	0	0	0	0	1	0	0	0	10337	1812	63	4	4835	4	NES	1	156647011	Missense_Mutation	SNP	T	TCGA-G9-7519-01A-11D-2260-08	120093607	156647011	92603610	2	8600											
CD1A	909	broad.mit.edu	37	chr1	158226847	158226847	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gagggccaggacatcgtcctCtactggggtgagaaaaagct	11	7	14	9	1	1	1	0	1	1	1	3	4	2	2	2	4	2	1	2	4	3	1			TCGA-G9-7519-01A-11D-2260-08	TCGA-G9-7519-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81dd038c-ba90-481c-90dc-c89b3048fc99	91e00401-e16e-4067-ae4d-28fce0a0425e	g.chr1:158226847C>T	ENST00000289429.5	+	4	1409	c.876C>T	c.(874-876)ctC>ctT	p.L292L		NM_001763.2	NP_001754.2	P06126	CD1A_HUMAN	CD1a molecule	292					antigen processing and presentation (GO:0019882)|immune response (GO:0006955)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(14)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	32	all_hematologic(112;0.0378)				Antithymocyte globulin(DB00098)	ACATCGTCCTCTACTGGGGTG	0.567																																						ENST00000289429.5																			0				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(14)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	32						c.(874-876)ctC>ctT		CD1a molecule	Antithymocyte globulin(DB00098)						52	51	51					1																	158226847		2203	4300	6503	SO:0001819	synonymous_variant	909				antigen processing and presentation|immune response	endosome membrane|integral to plasma membrane|MHC class I protein complex		g.chr1:158226847C>T	M28825	CCDS1174.1	1q23.1	2014-01-14	2006-03-28		ENSG00000158477	ENSG00000158477		"CD molecules", "Immunoglobulin superfamily / C1-set domain containing"	1634	protein-coding gene	gene with protein product		188370	"CD1A antigen, a polypeptide", "CD1a antigen"	CD1		2447586, 2784820	Standard	NM_001763		Approved		uc001frt.3	P06126	OTTHUMG00000017512	ENST00000289429.5:c.876C>T	1.37:g.158226847C>T							p.L292L	NM_001763.2	NP_001754.2	P06126	CD1A_HUMAN			4	1409	+	all_hematologic(112;0.0378)		292					D3DVD7|Q13962|Q5TDJ8|Q9UMM4|Q9Y5M5	Silent	SNP	ENST00000289429.5	37	c.876C>T	CCDS1174.1																																																																																				0.567	CD1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046349.2	NM_001763		5	60	0	0	0	1	0	5	60					T	158226847	C	T	158226847	2	4	184	1	0	0	0	0	0	0	0	1	2974	900	32	3		3	CD1A	1	158226847	Silent	SNP	C	TCGA-G9-7519-01A-11D-2260-08	1579836	158226847	91023774	3	8601											
ATAD2B	54454	broad.mit.edu	37	chr2	24011409	24011409	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tttccttcgtggtggagccaTtgatgcctgattgagaatca	8	14	11	8	1	1	3	1	3	0	1	3	5	2	4	3	2	2	0	3	2	1	4			TCGA-G9-7519-01A-11D-2260-08	TCGA-G9-7519-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81dd038c-ba90-481c-90dc-c89b3048fc99	91e00401-e16e-4067-ae4d-28fce0a0425e	g.chr2:24011409T>C	ENST00000238789.5	-	20	3092	c.2749A>G	c.(2749-2751)Atg>Gtg	p.M917V	ATAD2B_ENST00000474583.1_5'UTR	NM_001242338.1|NM_017552.2	NP_001229267.1|NP_060022.1	Q9ULI0	ATD2B_HUMAN	ATPase family, AAA domain containing 2B	917						nucleus (GO:0005634)	ATP binding (GO:0005524)|lysine-acetylated histone binding (GO:0070577)			central_nervous_system(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGTGGAGCCATTGATGCCTGA	0.363																																						ENST00000238789.5																			0				central_nervous_system(1)	1						c.(2749-2751)Atg>Gtg		ATPase family, AAA domain containing 2B							157	145	149					2																	24011409		1849	4082	5931	SO:0001583	missense	54454						ATP binding|nucleoside-triphosphatase activity	g.chr2:24011409T>C	AB033066	CCDS46227.1	2p24.1-p23.3	2010-04-21		2007-02-08	ENSG00000119778	ENSG00000119778		"ATPases / AAA-type"	29230	protein-coding gene	gene with protein product		615347					Standard	XM_005264372		Approved	KIAA1240	uc002rek.4	Q9ULI0	OTTHUMG00000151902	ENST00000238789.5:c.2749A>G	2.37:g.24011409T>C	ENSP00000238789:p.Met917Val					ATAD2B_ENST00000474583.1_5'UTR	p.M917V	NM_001242338.1|NM_017552.2	NP_001229267.1|NP_060022.1	Q9ULI0	ATD2B_HUMAN			20	3092	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		917					B9ZVQ5|Q6ZNA6|Q8N9E7	Missense_Mutation	SNP	ENST00000238789.5	37	c.2749A>G	CCDS46227.1	.	.	.	.	.	.	.	.	.	.	T	13.29	2.192501	0.38707	.	.	ENSG00000119778	ENST00000238789;ENST00000546030	D	0.91237	-2.81	5.55	4.39	0.52855	.	0.564534	0.17912	N	0.157810	T	0.80385	0.4613	N	0.14661	0.345	0.32516	N	0.536843	B;B	0.18610	0.017;0.029	B;B	0.20577	0.013;0.03	T	0.75551	-0.3278	10	0.27785	T	0.31	.	6.8377	0.23945	0.1338:0.071:0.0:0.7952	.	917;917	Q9ULI0;Q9ULI0-2	ATD2B_HUMAN;.	V	917;85	ENSP00000238789:M917V	ENSP00000238789:M917V	M	-	1	0	ATAD2B	23864913	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.584000	0.46102	1.053000	0.40415	0.533000	0.62120	ATG		0.363	ATAD2B-001	KNOWN	mRNA_end_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324333.1	NM_017552		12	48	0	0	0	1	0	12	48					C	24011409	T	C	24011409	3	2	184	1	0	0	0	0	1	0	0	0	1072	1493	52	4	1663	4	ATAD2B	2	24011409	Missense_Mutation	SNP	T	TCGA-G9-7519-01A-11D-2260-08		24011409	219187964	4	8602											
TTN	7273	broad.mit.edu	37	chr2	179435785	179435785	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aggtgggtttcttccactgaAgagtcacagaattccttgtg	9	13	11	8	0	2	3	1	1	1	2	4	3	4	3	2	2	0	1	2	2	2	4	rs3731743		TCGA-G9-7519-01A-11D-2260-08	TCGA-G9-7519-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81dd038c-ba90-481c-90dc-c89b3048fc99	91e00401-e16e-4067-ae4d-28fce0a0425e	g.chr2:179435785A>C	ENST00000591111.1	-	276	70375	c.70151T>G	c.(70150-70152)cTt>cGt	p.L23384R	TTN_ENST00000589042.1_Missense_Mutation_p.L25025R|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.L16152R|TTN_ENST00000342992.6_Missense_Mutation_p.L22457R|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.L16085R|TTN_ENST00000460472.2_Missense_Mutation_p.L15960R|TTN-AS1_ENST00000592600.1_RNA			Q8WZ42	TITIN_HUMAN	titin	23384	Fibronectin type-III 70. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTTCCACTGAAGAGTCACAGA	0.468																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(75073-75075)cTt>cGt		titin							141	144	143					2																	179435785		1947	4137	6084	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179435785A>C	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.70151T>G	2.37:g.179435785A>C	ENSP00000465570:p.Leu23384Arg					TTN_ENST00000342992.6_Missense_Mutation_p.L22457R|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.L16152R|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.L16085R|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.L15960R|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.L23384R	p.L25025R	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		326	75298	-			23384			Ig-like 123.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.75074T>G		.	.	.	.	.	.	.	.	.	.	A	13.03	2.114588	0.37339	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.60040	0.22;0.22;0.22;0.22	5.28	5.28	0.74379	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.85775	0.5775	H	0.98980	4.39	0.58432	D	0.999993	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	D	0.91671	0.5350	9	0.87932	D	0	.	15.5037	0.75722	1.0:0.0:0.0:0.0	.	15960;16085;16152;23384	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	R	22457;15960;16152;16085;15958	ENSP00000343764:L22457R;ENSP00000434586:L15960R;ENSP00000340554:L16152R;ENSP00000352154:L16085R	ENSP00000340554:L16152R	L	-	2	0	TTN	179144031	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.287000	0.95975	2.125000	0.65367	0.528000	0.53228	CTT		0.468	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		3	170	0	0	0	1	0	3	170					C	179435785	A	C	179435785	3	2	184	1	0	0	0	0	1	0	0	0	16732	72	3	5	33053	5	TTN	2	179435785	Missense_Mutation	SNP	A	TCGA-G9-7519-01A-11D-2260-08	155424376	179435785	63763588	5	8603											
PIKFYVE	200576	broad.mit.edu	37	chr2	209142388	209142388	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgggcagattttctgcagtcGttgctgtaatcaagaaatcc	10	13	10	8	1	2	2	1	0	1	2	4	2	3	2	1	1	2	5	1	1	3	4	rs112183241		TCGA-G9-7519-01A-11D-2260-08	TCGA-G9-7519-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81dd038c-ba90-481c-90dc-c89b3048fc99	91e00401-e16e-4067-ae4d-28fce0a0425e	g.chr2:209142388G>C	ENST00000264380.4	+	5	727	c.569G>C	c.(568-570)cGt>cCt	p.R190P	PIKFYVE_ENST00000308862.6_Intron|PIKFYVE_ENST00000407449.1_Missense_Mutation_p.R190P|PIKFYVE_ENST00000392202.3_Intron	NM_015040.3	NP_055855.2	Q9Y2I7	FYV1_HUMAN	phosphoinositide kinase, FYVE finger containing	190					cellular protein metabolic process (GO:0044267)|intracellular signal transduction (GO:0035556)|myelin assembly (GO:0032288)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phospholipid metabolic process (GO:0006644)|protein localization to nucleus (GO:0034504)|retrograde transport, endosome to Golgi (GO:0042147)|small molecule metabolic process (GO:0044281)	cell-cell junction (GO:0005911)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|early endosome membrane (GO:0031901)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|late endosome membrane (GO:0031902)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|vesicle membrane (GO:0012506)	1-phosphatidylinositol-3-phosphate 5-kinase activity (GO:0000285)|1-phosphatidylinositol-4-phosphate 5-kinase activity (GO:0016308)|ATP binding (GO:0005524)|phosphatidylinositol-3,5-bisphosphate 5-phosphatase activity (GO:0043813)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(14)|kidney(6)|large_intestine(25)|lung(40)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	107						TTCTGCAGTCGTTGCTGTAAT	0.383																																						ENST00000264380.4																			0				NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(14)|kidney(6)|large_intestine(25)|lung(40)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	107						c.(568-570)cGt>cCt		phosphoinositide kinase, FYVE finger containing							141	146	144					2																	209142388		2203	4300	6503	SO:0001583	missense	200576				cellular protein metabolic process|intracellular signal transduction|protein localization to nucleus|retrograde transport, endosome to Golgi	early endosome membrane|membrane raft	1-phosphatidylinositol-3-phosphate 5-kinase activity|1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|metal ion binding|protein binding	g.chr2:209142388G>C	AB023198	CCDS2382.1, CCDS33368.1, CCDS54431.1	2q34	2014-01-15	2009-04-17	2009-04-17	ENSG00000115020	ENSG00000115020		"Zinc fingers, FYVE domain containing"	23785	protein-coding gene	gene with protein product	"zinc finger, FYVE domain containing 29"	609414	"phosphatidylinositol-3-phosphate/phosphatidylinositol 5-kinase, type III"	PIP5K3		9858586, 12270933	Standard	NM_015040		Approved	MGC40423, KIAA0981, PIKfyve, PIP5K, p235, ZFYVE29, FAB1	uc002vcz.3	Q9Y2I7	OTTHUMG00000132945	ENST00000264380.4:c.569G>C	2.37:g.209142388G>C	ENSP00000264380:p.Arg190Pro					PIKFYVE_ENST00000308862.6_Intron|PIKFYVE_ENST00000407449.1_Missense_Mutation_p.R190P|PIKFYVE_ENST00000392202.3_Intron	p.R190P	NM_015040.3	NP_055855.2	Q9Y2I7	FYV1_HUMAN			5	727	+			190					Q08AR7|Q08AR8|Q53ST3|Q53T36|Q8N5H0|Q8NB67	Missense_Mutation	SNP	ENST00000264380.4	37	c.569G>C	CCDS2382.1	.	.	.	.	.	.	.	.	.	.	G	26.0	4.691857	0.88735	.	.	ENSG00000115020	ENST00000264380;ENST00000407449;ENST00000422495;ENST00000452564	T;T;T;T	0.43294	0.95;0.95;0.95;0.95	5.78	4.91	0.64330	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, FYVE-type (2);Zinc finger, FYVE-related (1);Zinc finger, FYVE/PHD-type (1);	0.068535	0.56097	D	0.000027	T	0.57917	0.2086	L	0.48174	1.505	0.80722	D	1	D;D;P	0.89917	1.0;1.0;0.665	D;D;P	0.83275	0.996;0.973;0.592	T	0.60495	-0.7252	10	0.62326	D	0.03	-9.8081	14.7893	0.69827	0.0691:0.0:0.9309:0.0	.	190;190;190	Q9Y2I7;E9PDH4;Q08AR7	FYV1_HUMAN;.;.	P	190;190;202;190	ENSP00000264380:R190P;ENSP00000384356:R190P;ENSP00000414477:R202P;ENSP00000405736:R190P	ENSP00000264380:R190P	R	+	2	0	PIKFYVE	208850633	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.799000	0.99117	1.450000	0.47717	0.561000	0.74099	CGT		0.383	PIKFYVE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256477.2	NM_015040		4	129	0	0	0	1	0	4	129					C	209142388	G	C	209142388	3	2	184	1	0	0	0	0	1	0	0	0	11924	1145	40	5	583	5	PIKFYVE	2	209142388	Missense_Mutation	SNP	G	TCGA-G9-7519-01A-11D-2260-08	29706603	209142388	34056985	6	8604											
SLC4A7	9497	broad.mit.edu	37	chr3	27472797	27472798	+	Frame_Shift_Del	DEL	AA	AA	-																															ttggatagttgcctggagttAagtcaacattttcctcattc																										TCGA-G9-7519-01A-11D-2260-08	TCGA-G9-7519-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81dd038c-ba90-481c-90dc-c89b3048fc99	91e00401-e16e-4067-ae4d-28fce0a0425e	g.chr3:27472797_27472798delAA	ENST00000295736.5	-	7	1184_1185	c.1114_1115delTT	c.(1114-1116)ttafs	p.L372fs	SLC4A7_ENST00000437179.1_Intron|SLC4A7_ENST00000445684.1_Frame_Shift_Del_p.L368fs|SLC4A7_ENST00000446700.1_Frame_Shift_Del_p.L364fs|SLC4A7_ENST00000440156.1_Frame_Shift_Del_p.L368fs|SLC4A7_ENST00000428386.1_Intron|SLC4A7_ENST00000425128.2_Frame_Shift_Del_p.L364fs|SLC4A7_ENST00000388777.4_5'UTR|SLC4A7_ENST00000454389.1_Frame_Shift_Del_p.L381fs|SLC4A7_ENST00000455077.1_Intron|SLC4A7_ENST00000435667.2_Intron	NM_003615.4	NP_003606.3	Q9Y6M7	S4A7_HUMAN	solute carrier family 4, sodium bicarbonate cotransporter, member 7	372					auditory receptor cell development (GO:0060117)|bicarbonate transport (GO:0015701)|cochlear nucleus development (GO:0021747)|ion transport (GO:0006811)|retina vasculature morphogenesis in camera-type eye (GO:0061299)|retinal cell programmed cell death (GO:0046666)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|cell projection (GO:0042995)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|sodium:bicarbonate symporter activity (GO:0008510)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(9)|ovary(4)|skin(1)	38					Sodium bicarbonate(DB01390)	GCCTGGAGTTAAGTCAACATTT	0.455																																						ENST00000295736.5																			0				NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(9)|ovary(4)|skin(1)	38						c.(1114-1116)afs		solute carrier family 4, sodium bicarbonate cotransporter, member 7																																				SO:0001589	frameshift_variant	9497					apical plasma membrane|basolateral plasma membrane|integral to membrane|stereocilium	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity	g.chr3:27472797_27472798delAA	AB012130	CCDS33721.1, CCDS58819.1, CCDS58820.1	3p24.1	2013-05-22			ENSG00000033867	ENSG00000033867		"Solute carriers"	11033	protein-coding gene	gene with protein product		603353		SLC4A6		10198178, 9610397	Standard	NM_003615		Approved	NBC3, SBC2	uc003cdv.4	Q9Y6M7	OTTHUMG00000155679	ENST00000295736.5:c.1114_1115delTT	3.37:g.27472797_27472798delAA	ENSP00000295736:p.Leu372fs					SLC4A7_ENST00000428386.1_Intron|SLC4A7_ENST00000445684.1_Frame_Shift_Del_p.L368fs|SLC4A7_ENST00000437179.1_Intron|SLC4A7_ENST00000446700.1_Frame_Shift_Del_p.L364fs|SLC4A7_ENST00000425128.2_Frame_Shift_Del_p.L364fs|SLC4A7_ENST00000388777.4_5'UTR|SLC4A7_ENST00000454389.1_Frame_Shift_Del_p.L381fs|SLC4A7_ENST00000435667.2_Intron|SLC4A7_ENST00000455077.1_Intron|SLC4A7_ENST00000440156.1_Frame_Shift_Del_p.L368fs	p.L372fs	NM_003615.4	NP_003606.3	Q9Y6M7	S4A7_HUMAN			7	1184_1185	-			372					A6NIA8|B2CI53|B5M449|B5M451|B5M452|B5M453|B6DY52|B6DY53|C9JST9|D3K174|D3K175|O60350|Q6AHZ9|Q9HC88|Q9UIB9	Frame_Shift_Del	DEL	ENST00000295736.5	37	c.1114_1115delTT	CCDS33721.1																																																																																				0.455	SLC4A7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000341230.2	NM_003615		20	93						20	93	---	---	---	---	-	27472798	AA	-	27472797	7	5	184	1	0	1	0	1	0	0	0	0	14658	372	13	0	2605	0	SLC4A7	3	27472797	Frame_Shift_Del	DEL	AA	TCGA-G9-7519-01A-11D-2260-08		27472797	170549633	7	8605											
CSRNP1	64651	broad.mit.edu	37	chr3	39188103	39188105	+	In_Frame_Del	DEL	GAG	GAG	-																															gagactggcacccagaggaaGaggaggaggaggagaccgag																										TCGA-G9-7519-01A-11D-2260-08	TCGA-G9-7519-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81dd038c-ba90-481c-90dc-c89b3048fc99	91e00401-e16e-4067-ae4d-28fce0a0425e	g.chr3:39188103_39188105delGAG	ENST00000273153.5	-	2	246_248	c.69_71delCTC	c.(67-72)tcctct>tct	p.23_24SS>S	CSRNP1_ENST00000514182.1_In_Frame_Del_p.23_24SS>S	NM_033027.3	NP_149016.2	Q96S65	CSRN1_HUMAN	cysteine-serine-rich nuclear protein 1	23	Ser-rich.				apoptotic process (GO:0006915)|face morphogenesis (GO:0060325)|palate development (GO:0060021)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic development (GO:0009791)|skeletal system morphogenesis (GO:0048705)	nucleus (GO:0005634)	RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|skin(3)	24						CCCAGAGGAAGAGGAGGAGGAGG	0.616																																						ENST00000273153.5																			0				central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|skin(3)	24						c.(67-72)tct>tc		cysteine-serine-rich nuclear protein 1																																				SO:0001651	inframe_deletion	64651				apoptosis|positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr3:39188103_39188105delGAG	AB053121	CCDS2682.1	3p22	2009-04-17	2009-04-17	2009-04-17	ENSG00000144655	ENSG00000144655			14300	protein-coding gene	gene with protein product		606458	"AXIN1 up-regulated 1"	AXUD1		11526492, 17726538	Standard	NM_033027		Approved	URAX1, DKFZp566F164, FAM130B, TAIP-3	uc003cjg.3	Q96S65	OTTHUMG00000131293	ENST00000273153.5:c.69_71delCTC	3.37:g.39188112_39188114delGAG	ENSP00000273153:p.Ser26del					CSRNP1_ENST00000514182.1_In_Frame_Del_p.SS25del	p.SS25del	NM_033027.3	NP_149016.2	Q96S65	CSRN1_HUMAN			2	246_248	-			25			Ser-rich.		Q69YY5	In_Frame_Del	DEL	ENST00000273153.5	37	c.69_71delCTC	CCDS2682.1																																																																																				0.616	CSRNP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254061.1	NM_033027		2	4						2	4	---	---	---	---	-	39188105	GAG	-	39188103	7	5	184	1	0	1	0	1	0	0	0	0	3963	942	33	0	1714	0	CSRNP1	3	39188103	In_Frame_Del	DEL	GAG	TCGA-G9-7519-01A-11D-2260-08	11715306	39188103	158834327	8	8606											
CADPS	8618	broad.mit.edu	37	chr3	62478078	62478078	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcaaagagtgacaggaacGtctccgcatgctccaccatt	11	8	9	13	2	1	2	0	1	1	1	3	3	2	3	3	1	3	3	3	1	2	1			TCGA-G9-7519-01A-11D-2260-08	TCGA-G9-7519-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81dd038c-ba90-481c-90dc-c89b3048fc99	91e00401-e16e-4067-ae4d-28fce0a0425e	g.chr3:62478078G>A	ENST00000383710.4	-	20	3120	c.2771C>T	c.(2770-2772)aCg>aTg	p.T924M	CADPS_ENST00000283269.9_Missense_Mutation_p.T934M|CADPS_ENST00000357948.3_Missense_Mutation_p.T894M	NM_003716.3	NP_003707.2	Q9ULU8	CAPS1_HUMAN	Ca++-dependent secretion activator	924	Interaction with DRD2.				catecholamine secretion (GO:0050432)|exocytosis (GO:0006887)|protein transport (GO:0015031)|synaptic vesicle priming (GO:0016082)|vesicle organization (GO:0016050)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|membrane (GO:0016020)|synapse (GO:0045202)	lipid binding (GO:0008289)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)	p.T934M(1)|p.T924M(1)		breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2)	92		Lung SC(41;0.0452)		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)		TGACAGGAACGTCTCCGCATG	0.448																																						ENST00000383710.4																			2	Substitution - Missense(2)	p.T934M(1)|p.T924M(1)	large_intestine(2)	breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2)	92						c.(2770-2772)aCg>aTg		Ca++-dependent secretion activator							329	328	328					3																	62478078		2203	4300	6503	SO:0001583	missense	8618				exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|cytosol|synapse	lipid binding|metal ion binding	g.chr3:62478078G>A	U36448	CCDS2898.1, CCDS2899.1, CCDS46858.1	3p21.1	2013-01-10	2008-08-28		ENSG00000163618	ENSG00000163618		"Pleckstrin homology (PH) domain containing"	1426	protein-coding gene	gene with protein product		604667				1516133	Standard	NM_183393		Approved	CAPS, KIAA1121, CAPS1	uc003dll.2	Q9ULU8	OTTHUMG00000158651	ENST00000383710.4:c.2771C>T	3.37:g.62478078G>A	ENSP00000373215:p.Thr924Met					CADPS_ENST00000357948.3_Missense_Mutation_p.T894M|CADPS_ENST00000283269.9_Missense_Mutation_p.T934M	p.T924M	NM_003716.3	NP_003707.2	Q9ULU8	CAPS1_HUMAN		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)	20	3120	-		Lung SC(41;0.0452)	924			Interaction with DRD2.		A6NF60|Q13339|Q6GQQ6|Q8N2Z5|Q8N3M7|Q8NFR0|Q96BC2	Missense_Mutation	SNP	ENST00000383710.4	37	c.2771C>T	CCDS46858.1	.	.	.	.	.	.	.	.	.	.	G	14.38	2.519251	0.44866	.	.	ENSG00000163618	ENST00000383709;ENST00000383710;ENST00000357948;ENST00000283269	T;T;T	0.44881	0.92;0.92;0.91	6.17	5.3	0.74995	Calcium-dependent secretion activator (1);	0.211440	0.48286	D	0.000181	T	0.51500	0.1678	L	0.56769	1.78	0.80722	D	1	D;P;D;D	0.61080	0.989;0.468;0.986;0.989	P;B;P;P	0.51016	0.656;0.023;0.616;0.541	T	0.56335	-0.7996	10	0.66056	D	0.02	.	15.6596	0.77174	0.0652:0.0:0.9348:0.0	.	894;934;924;924	Q9ULU8-2;Q9ULU8-3;Q9ULU8;Q9ULU8-4	.;.;CAPS1_HUMAN;.	M	924;924;894;934	ENSP00000373215:T924M;ENSP00000350632:T894M;ENSP00000283269:T934M	ENSP00000283269:T934M	T	-	2	0	CADPS	62453118	1.000000	0.71417	0.988000	0.46212	0.922000	0.55478	3.810000	0.55613	1.636000	0.50526	0.655000	0.94253	ACG		0.448	CADPS-013	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351951.5	NM_003716, NM_183393, NM_183394		7	510	0	0	0	1	0	7	510					A	62478078	G	A	62478078	3	1	184	1	0	0	0	0	1	0	0	0	2570	1145	40	1	1334	1	CADPS	3	62478078	Missense_Mutation	SNP	G	TCGA-G9-7519-01A-11D-2260-08	23289975	62478078	135544352	9	8607											
ABI3BP	25890	broad.mit.edu	37	chr3	100497211	100497211	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtctgggtggcaagggtgggCggcgagtccctgggattgtg	4	9	21	7	2	1	0	0	0	1	0	2	2	2	1	1	6	0	1	1	6	1	1			TCGA-G9-7519-01A-11D-2260-08	TCGA-G9-7519-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81dd038c-ba90-481c-90dc-c89b3048fc99	91e00401-e16e-4067-ae4d-28fce0a0425e	g.chr3:100497211C>T	ENST00000284322.5	-	26	2226	c.2117G>A	c.(2116-2118)cGc>cAc	p.R706H	ABI3BP_ENST00000471714.1_Missense_Mutation_p.R1408H|ABI3BP_ENST00000383691.4_Missense_Mutation_p.R660H	NM_015429.3	NP_056244.2	Q7Z7G0	TARSH_HUMAN	ABI family, member 3 (NESH) binding protein	706	Pro-rich.				extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	extracellular space (GO:0005615)|interstitial matrix (GO:0005614)	heparin binding (GO:0008201)			central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	50						CAAGGGTGGGCGGCGAGTCCC	0.403																																						ENST00000471714.1																			0				central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	50						c.(4222-4224)cGc>cAc		ABI family, member 3 (NESH) binding protein							96	96	96					3																	100497211		1880	4101	5981	SO:0001583	missense	25890					extracellular space		g.chr3:100497211C>T	AB056106	CCDS46880.1	3q12.2	2013-02-11	2008-09-12		ENSG00000154175	ENSG00000154175		"Fibronectin type III domain containing"	17265	protein-coding gene	gene with protein product	"target of Nesh-SH3"	606279				11501947	Standard	NM_015429		Approved	NESHBP, DKFZP586L2024, TARSH	uc003dun.3	Q7Z7G0	OTTHUMG00000159094	ENST00000284322.5:c.2117G>A	3.37:g.100497211C>T	ENSP00000284322:p.Arg706His					ABI3BP_ENST00000383691.4_Missense_Mutation_p.R660H|ABI3BP_ENST00000284322.5_Missense_Mutation_p.R706H	p.R1408H			Q7Z7G0	TARSH_HUMAN			58	4332	-			706					B3KSL4|Q6ZW20|Q6ZW22|Q9C082|Q9UFI6	Missense_Mutation	SNP	ENST00000284322.5	37	c.4223G>A	CCDS46880.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.25|12.25	1.882324|1.882324	0.33255|0.33255	.|.	.|.	ENSG00000154175|ENSG00000154175	ENST00000495591|ENST00000471714;ENST00000284322;ENST00000383692;ENST00000429331;ENST00000383691;ENST00000486770	.|T;T;T	.|0.23552	.|2.27;1.95;1.9	5.7|5.7	-1.75|-1.75	0.08031|0.08031	.|.	.|0.637241	.|0.16360	.|N	.|0.217809	T|T	0.13415|0.13415	0.0325|0.0325	L|L	0.39633|0.39633	1.23|1.23	0.09310|0.09310	N|N	1|1	.|B;B;P;B	.|0.35174	.|0.037;0.021;0.488;0.058	.|B;B;B;B	.|0.20184	.|0.013;0.003;0.028;0.007	T|T	0.15665|0.15665	-1.0429|-1.0429	5|10	.|0.30078	.|T	.|0.28	0.0363|0.0363	7.2382|7.2382	0.26082|0.26082	0.1091:0.4611:0.0:0.4297|0.1091:0.4611:0.0:0.4297	.|.	.|660;706;1408;415	.|B4DSV9;Q7Z7G0;D3YTG3;D3YTD6	.|.;TARSH_HUMAN;.;.	T|H	762|1408;706;415;117;660;118	.|ENSP00000420524:R1408H;ENSP00000284322:R706H;ENSP00000373189:R660H	.|ENSP00000284322:R706H	A|R	-|-	1|2	0|0	ABI3BP|ABI3BP	101979901|101979901	0.000000|0.000000	0.05858|0.05858	0.548000|0.548000	0.28192|0.28192	0.944000|0.944000	0.59088|0.59088	-0.647000|-0.647000	0.05397|0.05397	-0.217000|-0.217000	0.10033|0.10033	0.462000|0.462000	0.41574|0.41574	GCC|CGC		0.403	ABI3BP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000353260.1			6	33	0	0	0	1	0	6	33					T	100497211	C	T	100497211	3	4	184	1	0	0	0	0	1	0	0	0	91	768	27	1	1150	1	ABI3BP	3	100497211	Missense_Mutation	SNP	C	TCGA-G9-7519-01A-11D-2260-08	38019133	100497211	97525219	10	8608											
TIFA	92610	broad.mit.edu	37	chr4	113199473	113199473	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tttctctctgttaaaacttaTtgactgaaatattccacact	12	17	3	9	0	2	2	0	2	2	0	4	2	3	2	1	0	1	1	1	0	5	6			TCGA-G9-7519-01A-11D-2260-08	TCGA-G9-7519-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81dd038c-ba90-481c-90dc-c89b3048fc99	91e00401-e16e-4067-ae4d-28fce0a0425e	g.chr4:113199473T>C	ENST00000361717.3	-	2	381	c.100A>G	c.(100-102)Ata>Gta	p.I34V	TIFA_ENST00000500655.2_Missense_Mutation_p.I34V	NM_052864.2	NP_443096.1	Q96CG3	TIFA_HUMAN	TRAF-interacting protein with forkhead-associated domain	34					I-kappaB kinase/NF-kappaB signaling (GO:0007249)					breast(2)|endometrium(1)|large_intestine(1)|lung(1)|skin(1)	6		Ovarian(17;0.0443)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00172)		TTAAAACTTATTGACTGAAAT	0.428																																						ENST00000361717.2																			0				breast(2)|endometrium(1)|large_intestine(1)|lung(1)|skin(1)	6						c.(100-102)Ata>Gta		TRAF-interacting protein with forkhead-associated domain							89	96	94					4																	113199473		2203	4298	6501	SO:0001583	missense	92610						protein binding	g.chr4:113199473T>C	BC008294	CCDS34051.1	4q25	2008-03-17				ENSG00000145365			19075	protein-coding gene	gene with protein product	"TRAF2 binding protein", "TRAF6 binding protein"	609028				1179819	Standard	NM_052864		Approved	MGC20791, T2BP, T6BP, TIFAA	uc003ial.3	Q96CG3		ENST00000361717.3:c.100A>G	4.37:g.113199473T>C	ENSP00000354911:p.Ile34Val					TIFA_ENST00000500655.2_Missense_Mutation_p.I34V	p.I34V	NM_052864.2	NP_443096.1	Q96CG3	TIFA_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.00172)	2	381	-		Ovarian(17;0.0443)|Hepatocellular(203;0.217)	34						Missense_Mutation	SNP	ENST00000361717.3	37	c.100A>G	CCDS34051.1	.	.	.	.	.	.	.	.	.	.	T	3.746	-0.052541	0.07362	.	.	ENSG00000145365	ENST00000361717;ENST00000438746;ENST00000500655	T;T	0.43294	0.95;0.95	5.92	4.81	0.61882	.	0.178513	0.49916	D	0.000123	T	0.35189	0.0923	L	0.60455	1.87	0.09310	N	1	P	0.37441	0.595	B	0.31869	0.137	T	0.41016	-0.9532	10	0.49607	T	0.09	-0.0053	9.3568	0.38171	0.0994:0.0:0.1831:0.7175	.	34	Q96CG3	TIFA_HUMAN	V	34	ENSP00000354911:I34V;ENSP00000424231:I34V	ENSP00000354911:I34V	I	-	1	0	TIFA	113418922	0.060000	0.20803	0.033000	0.17914	0.451000	0.32288	1.164000	0.31810	2.277000	0.76020	0.528000	0.53228	ATA		0.428	TIFA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363647.2	NM_052864		46	121	0	0	0	1	0	46	121					C	113199473	T	C	113199473	3	2	184	1	0	0	0	0	1	0	0	0	15891	1493	52	4	458	4	TIFA	4	113199473	Missense_Mutation	SNP	T	TCGA-G9-7519-01A-11D-2260-08		113199473	77954803	11	8609											
SLC9A3	6550	broad.mit.edu	37	chr5	480012	480012	+	Frame_Shift_Del	DEL	T	T	-																															ggaagacattcaggatccggTctcgagacttctgggccgac																										TCGA-G9-7519-01A-11D-2260-08	TCGA-G9-7519-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81dd038c-ba90-481c-90dc-c89b3048fc99	91e00401-e16e-4067-ae4d-28fce0a0425e	g.chr5:480012delT	ENST00000264938.3	-	10	1595	c.1586delA	c.(1585-1587)gacfs	p.D529fs	SLC9A3_ENST00000514375.1_Frame_Shift_Del_p.D520fs|CTD-2228K2.7_ENST00000606288.1_RNA|CTD-2228K2.7_ENST00000607286.1_RNA|CTD-2228K2.7_ENST00000607005.1_RNA	NM_004174.2	NP_004165.2	P48764	SL9A3_HUMAN	solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3	529					ion transport (GO:0006811)|regulation of pH (GO:0006885)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border (GO:0005903)|brush border membrane (GO:0031526)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	PDZ domain binding (GO:0030165)|sodium:proton antiporter activity (GO:0015385)			NS(2)|biliary_tract(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(16)|prostate(3)|skin(2)|urinary_tract(1)	37			Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)			CAGGATCCGGTCTCGAGACTT	0.607																																						ENST00000264938.3																			0				NS(2)|biliary_tract(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(16)|prostate(3)|skin(2)|urinary_tract(1)	37						c.(1585-1587)gcfs		solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3							115	109	111					5																	480012		2203	4300	6503	SO:0001589	frameshift_variant	6550					cell surface|integral to membrane	sodium:hydrogen antiporter activity	g.chr5:480012delT		CCDS3855.1, CCDS64116.1	5p15.3	2013-05-22	2012-03-22		ENSG00000066230	ENSG00000066230		"Solute carriers"	11073	protein-coding gene	gene with protein product		182307	"solute carrier family 9 (sodium/hydrogen exchanger), isoform 3", "solute carrier family 9 (sodium/hydrogen exchanger), member 3"	NHE3		8096830	Standard	NM_004174		Approved		uc003jbe.2	P48764	OTTHUMG00000090315	ENST00000264938.3:c.1586delA	5.37:g.480012delT	ENSP00000264938:p.Asp529fs					SLC9A3_ENST00000514375.1_Frame_Shift_Del_p.D520fs|CTD-2228K2.7_ENST00000606288.1_RNA|CTD-2228K2.7_ENST00000607286.1_RNA|CTD-2228K2.7_ENST00000607005.1_RNA	p.D529fs	NM_004174.2	NP_004165.2	P48764	SL9A3_HUMAN	Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)		10	1595	-			529					B7ZKR2|E9PF67|Q3MIW3	Frame_Shift_Del	DEL	ENST00000264938.3	37	c.1586delA	CCDS3855.1																																																																																				0.607	SLC9A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206677.2	NM_004174		9	130						9	130	---	---	---	---	-	480012	T	-	480012	7	5	184	1	0	1	0	1	0	0	0	0	14713	1667	58	0	950	0	SLC9A3	5	480012	Frame_Shift_Del	DEL	T	TCGA-G9-7519-01A-11D-2260-08		480012	180435248	12	8610											
ODZ2	57451	broad.mit.edu	37	chr5	167673770	167673770	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tcctttctgcagtccatggtCctcctgcttcagagccaacg	6	12	8	15	1	2	1	1	0	1	1	6	1	6	1	5	1	4	2	5	1	1	2			TCGA-G9-7519-01A-11D-2260-08	TCGA-G9-7519-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81dd038c-ba90-481c-90dc-c89b3048fc99	91e00401-e16e-4067-ae4d-28fce0a0425e	g.chr5:167673770C>A	ENST00000518659.1	+	27	5865	c.5826C>A	c.(5824-5826)gtC>gtA	p.V1942V	TENM2_ENST00000545108.1_Silent_p.V1941V|TENM2_ENST00000519204.1_Silent_p.V1821V|TENM2_ENST00000520394.1_Silent_p.V1703V|TENM2_ENST00000403607.2_Silent_p.V1766V	NM_001122679.1	NP_001116151.1	Q9NT68	TEN2_HUMAN	teneurin transmembrane protein 2	1942					axon guidance (GO:0007411)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|heterophilic cell-cell adhesion (GO:0007157)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of filopodium assembly (GO:0051491)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cell-cell junction (GO:0005911)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|endoplasmic reticulum (GO:0005783)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)										AGTCCATGGTCCTCCTGCTTC	0.502																																						ENST00000519204.1																			0											c.(5461-5463)gtC>gtA		teneurin transmembrane protein 2							274	280	278					5																	167673770		2056	4198	6254	SO:0001819	synonymous_variant	57451							g.chr5:167673770C>A	AB032953		5q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000145934	ENSG00000145934			29943	protein-coding gene	gene with protein product		610119	"odz, odd Oz/ten-m homolog 2 (Drosophila)"	ODZ2		10625539	Standard	NM_001122679		Approved	KIAA1127, Ten-M2	uc010jjd.3	Q9NT68	OTTHUMG00000162928	ENST00000518659.1:c.5826C>A	5.37:g.167673770C>A						TENM2_ENST00000520394.1_Silent_p.V1703V|TENM2_ENST00000545108.1_Silent_p.V1941V|TENM2_ENST00000403607.2_Silent_p.V1766V|TENM2_ENST00000518659.1_Silent_p.V1942V	p.V1821V							26	5581	+								Q9ULU2	Silent	SNP	ENST00000518659.1	37	c.5463C>A																																																																																					0.502	TENM2-001	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000376096.1	NM_001122679		95	334	1	0	2.85792e-54	1	2.91872e-54	95	334					A	167673770	C	A	167673770	2	1	184	1	0	0	0	0	0	0	0	1	10835	842	30	5		5	ODZ2	5	167673770	Silent	SNP	C	TCGA-G9-7519-01A-11D-2260-08	167193758	167673770	13241490	13	8611											
RPL10A	4736	broad.mit.edu	37	chr6	35438057	35438057	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caggaaagttcccttccctgCtcacacacaacgaaaacatg	14	7	6	14	1	1	0	1	0	0	0	3	2	3	1	2	1	3	2	2	1	4	2			TCGA-G9-7519-01A-11D-2260-08	TCGA-G9-7519-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81dd038c-ba90-481c-90dc-c89b3048fc99	91e00401-e16e-4067-ae4d-28fce0a0425e	g.chr6:35438057C>T	ENST00000322203.6	+	5	439	c.412C>T	c.(412-414)Ctc>Ttc	p.L138F	RPL10A_ENST00000467020.1_3'UTR	NM_007104.4	NP_009035.3	P62906	RL10A_HUMAN	ribosomal protein L10a	138					anatomical structure morphogenesis (GO:0009653)|cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			breast(1)|large_intestine(2)|ovary(1)	4						CCCTTCCCTGCTCACACACAA	0.488																																						ENST00000322203.6																			0				breast(1)|large_intestine(2)|ovary(1)	4						c.(412-414)Ctc>Ttc		ribosomal protein L10a							54	48	50					6																	35438057		2203	4300	6503	SO:0001583	missense	4736				anatomical structure morphogenesis|endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosol|large ribosomal subunit	RNA binding|structural constituent of ribosome	g.chr6:35438057C>T	U12404	CCDS4806.1	6p21.31	2011-04-06			ENSG00000198755	ENSG00000198755		"L ribosomal proteins"	10299	protein-coding gene	gene with protein product		615660		NEDD6		7609734, 9647638	Standard	NM_007104		Approved	Csa-19, L10A	uc003okp.1	P62906	OTTHUMG00000014566	ENST00000322203.6:c.412C>T	6.37:g.35438057C>T	ENSP00000363018:p.Leu138Phe					RPL10A_ENST00000467020.1_3'UTR	p.L138F	NM_007104.4	NP_009035.3	P62906	RL10A_HUMAN			5	439	+			138					B2R801|P52859|P53025|Q5TZT6|Q8J013	Missense_Mutation	SNP	ENST00000322203.6	37	c.412C>T	CCDS4806.1	.	.	.	.	.	.	.	.	.	.	C	25.5	4.646260	0.87958	.	.	ENSG00000198755	ENST00000322203	T	0.43688	0.94	4.73	3.86	0.44501	Ribosomal protein L1, 3-layer alpha/beta-sandwich (1);Ribosomal protein L1, superfamily (1);	0.000000	0.85682	D	0.000000	T	0.57066	0.2028	M	0.86651	2.83	0.80722	D	1	D	0.56521	0.976	D	0.67548	0.952	T	0.66073	-0.6014	10	0.87932	D	0	.	11.6968	0.51548	0.0:0.9125:0.0:0.0875	.	138	P62906	RL10A_HUMAN	F	138	ENSP00000363018:L138F	ENSP00000363018:L138F	L	+	1	0	RPL10A	35546035	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	3.916000	0.56416	0.999000	0.39023	0.556000	0.70494	CTC		0.488	RPL10A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040283.1	NM_007104		7	28	0	0	0	1	0	7	28					T	35438057	C	T	35438057	3	4	184	1	0	0	0	0	1	0	0	0	13555	797	28	3	430	3	RPL10A	6	35438057	Missense_Mutation	SNP	C	TCGA-G9-7519-01A-11D-2260-08		35438057	135677010	14	8612											
PHF3	23469	broad.mit.edu	37	chr6	64394235	64394235	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agaaggtgcagccgaaatagCggacaaattgaagtggtacc	15	6	13	7	2	0	2	0	1	0	1	0	4	0	3	2	3	4	2	2	3	6	3	rs79636606	byFrequency	TCGA-G9-7519-01A-11D-2260-08	TCGA-G9-7519-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81dd038c-ba90-481c-90dc-c89b3048fc99	91e00401-e16e-4067-ae4d-28fce0a0425e	g.chr6:64394235C>T	ENST00000262043.3	+	4	952	c.612C>T	c.(610-612)agC>agT	p.S204S	PHF3_ENST00000509330.1_Silent_p.S204S|PHF3_ENST00000393387.1_Silent_p.S204S			Q92576	PHF3_HUMAN	PHD finger protein 3	204					multicellular organismal development (GO:0007275)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)			GCCGAAATAGCGGACAAATTG	0.403													C|||	9	0.00179712	0.0045	0	5008	,	,		19497	0.003		0	False		,,,				2504	0				GBM(135;136 1820 29512 34071 46235)	ENST00000262043.3																			0				breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75						c.(610-612)agC>agT		PHD finger protein 3		C		12,4394	21.2+/-45.6	0,12,2191	163	133	143		612	0.5	0	6	dbSNP_132	143	0,8600		0,0,4300	no	coding-synonymous	PHF3	NM_015153.2		0,12,6491	TT,TC,CC		0.0,0.2724,0.0923		204/2040	64394235	12,12994	2203	4300	6503	SO:0001819	synonymous_variant	23469				multicellular organismal development|transcription, DNA-dependent	nucleus	zinc ion binding	g.chr6:64394235C>T	AF091622	CCDS4966.1	6q12	2013-09-24			ENSG00000118482	ENSG00000118482		"Zinc fingers, PHD-type"	8921	protein-coding gene	gene with protein product		607789				11856869	Standard	XM_005248701		Approved		uc003pep.1	Q92576	OTTHUMG00000014952	ENST00000262043.3:c.612C>T	6.37:g.64394235C>T						PHF3_ENST00000509330.1_Silent_p.S204S|PHF3_ENST00000393387.1_Silent_p.S204S	p.S204S			Q92576	PHF3_HUMAN	LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)		4	952	+	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		204					A3KFI8|Q14CR5|Q5CZI1|Q5T1T6|Q9NQ16|Q9UI45	Silent	SNP	ENST00000262043.3	37	c.612C>T	CCDS4966.1																																																																																				0.403	PHF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041086.2			4	82	0	0	0	1	0	4	82					T	64394235	C	T	64394235	2	4	184	1	0	0	0	0	0	0	0	1	11836	767	27	1		1	PHF3	6	64394235	Silent	SNP	C	TCGA-G9-7519-01A-11D-2260-08	28956178	64394235	106720832	15	8613											
C6orf204	387119	broad.mit.edu	37	chr6	118790379	118790379	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agtcaaatcaaatagtggccGtttggaaagaactgtctgct	13	11	10	7	1	3	1	2	0	1	1	3	2	3	2	1	2	2	2	1	2	5	2	rs201806484		TCGA-G9-7519-01A-11D-2260-08	TCGA-G9-7519-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81dd038c-ba90-481c-90dc-c89b3048fc99	91e00401-e16e-4067-ae4d-28fce0a0425e	g.chr6:118790379G>A	ENST00000368491.3	-	12	2731	c.2110C>T	c.(2110-2112)Cgg>Tgg	p.R704W	CEP85L_ENST00000368488.5_Missense_Mutation_p.R707W	NM_001042475.2	NP_001035940.1	Q5SZL2	CE85L_HUMAN	centrosomal protein 85kDa-like	704						centrosome (GO:0005813)|cytoplasm (GO:0005737)											AATAGTGGCCGTTTGGAAAGA	0.418																																						ENST00000368491.3																			0											c.(2110-2112)Cgg>Tgg		centrosomal protein 85kDa-like		G	TRP/ARG,TRP/ARG	1,3813		0,1,1906	170	160	163		2110,2119	-9.9	0	6		163	1,8269		0,1,4134	no	missense,missense	C6orf204	NM_001042475.2,NM_001178035.1	101,101	0,2,6040	AA,AG,GG		0.0121,0.0262,0.0166	benign,benign	704/806,707/809	118790379	2,12082	1907	4135	6042	SO:0001583	missense	387119					centrosome		g.chr6:118790379G>A	AF308284	CCDS5119.2, CCDS43498.1, CCDS55052.1	6q22.31	2011-11-25	2011-11-25	2011-11-25	ENSG00000111860	ENSG00000111860			21638	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 204"	C6orf204			Standard	NM_206921		Approved	NY-BR-15, bA57K17.2	uc003pya.2	Q5SZL2	OTTHUMG00000015465	ENST00000368491.3:c.2110C>T	6.37:g.118790379G>A	ENSP00000357477:p.Arg704Trp					CEP85L_ENST00000368488.5_Missense_Mutation_p.R707W	p.R704W	NM_001042475.2	NP_001035940.1	Q5SZL2	CF204_HUMAN			12	2731	-			704					A1A4E1|A2A3P2|A2IDE5|F8W6J2|G3V0H3|Q2TAM2|Q5T323|Q7Z5K7|Q9H289	Missense_Mutation	SNP	ENST00000368491.3	37	c.2110C>T	CCDS43498.1	.	.	.	.	.	.	.	.	.	.	G	14.58	2.576949	0.45902	2.62E-4	1.21E-4	ENSG00000111860	ENST00000368491;ENST00000368488	T;T	0.12039	2.72;2.72	5.38	-9.87	0.00470	.	1.247650	0.05663	N	0.587286	T	0.01254	0.0041	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.39860	-0.9593	10	0.56958	D	0.05	0.5445	1.5486	0.02570	0.3513:0.0813:0.1963:0.3711	.	704	Q5SZL2	CF204_HUMAN	W	704;707	ENSP00000357477:R704W;ENSP00000357474:R707W	ENSP00000357474:R707W	R	-	1	2	C6orf204	118897072	0.000000	0.05858	0.010000	0.14722	0.564000	0.35744	-1.329000	0.02677	-2.242000	0.00708	-0.122000	0.15005	CGG		0.418	CEP85L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041996.2	NM_001042475		12	170	0	0	0	1	0	12	170					A	118790379	G	A	118790379	3	1	184	1	0	0	0	0	1	0	0	0	2353	1144	40	1	315	1	C6orf204	6	118790379	Missense_Mutation	SNP	G	TCGA-G9-7519-01A-11D-2260-08	54396144	118790379	52324688	16	8614											
EYA4	2070	broad.mit.edu	37	chr6	133844247	133844247	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcaactgatcccagcacttgCgaaggttctactctatagtt	10	13	7	11	1	3	1	1	1	2	0	4	2	4	1	1	1	4	3	1	1	5	6			TCGA-G9-7519-01A-11D-2260-08	TCGA-G9-7519-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81dd038c-ba90-481c-90dc-c89b3048fc99	91e00401-e16e-4067-ae4d-28fce0a0425e	g.chr6:133844247C>T	ENST00000367895.5	+	18	2134	c.1670C>T	c.(1669-1671)gCg>gTg	p.A557V	EYA4_ENST00000452339.2_Missense_Mutation_p.A503V|EYA4_ENST00000525849.1_Missense_Mutation_p.A534V|EYA4_ENST00000355286.6_Missense_Mutation_p.A534V|RP3-323P13.2_ENST00000607033.1_RNA|EYA4_ENST00000531901.1_Missense_Mutation_p.A563V|EYA4_ENST00000431403.2_Missense_Mutation_p.A557V|EYA4_ENST00000355167.3_Missense_Mutation_p.A557V|EYA4_ENST00000430974.2_Missense_Mutation_p.A509V	NM_004100.4	NP_004091.3	O95677	EYA4_HUMAN	EYA transcriptional coactivator and phosphatase 4	557					anatomical structure morphogenesis (GO:0009653)|chromatin modification (GO:0016568)|DNA repair (GO:0006281)|inner ear development (GO:0048839)|middle ear morphogenesis (GO:0042474)|regulation of transcription, DNA-templated (GO:0006355)|sensory perception of sound (GO:0007605)|transcription, DNA-templated (GO:0006351)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein tyrosine phosphatase activity (GO:0004725)			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|skin(1)	48	Colorectal(23;0.221)			GBM - Glioblastoma multiforme(68;0.00457)|OV - Ovarian serous cystadenocarcinoma(155;0.0152)		CCAGCACTTGCGAAGGTTCTA	0.338																																					Melanoma(57;398 1237 3528 4702 7415)	ENST00000367895.5																			0				breast(1)|central_nervous_system(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|skin(1)	48						c.(1669-1671)gCg>gTg		eyes absent homolog 4 (Drosophila)							121	117	119					6																	133844247		2203	4300	6503	SO:0001583	missense	2070				anatomical structure morphogenesis|chromatin modification|DNA repair|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity	g.chr6:133844247C>T	Y17114	CCDS5165.1, CCDS5166.1, CCDS43506.1, CCDS75521.1, CCDS75523.1	6q23	2014-09-17	2014-06-19		ENSG00000112319	ENSG00000112319		"Protein tyrosine phosphatases / Asp-based PTPs"	3522	protein-coding gene	gene with protein product		603550	"eyes absent (Drosophila) homolog 4", "eyes absent homolog 4 (Drosophila)"	DFNA10, CMD1J		9887327, 11159937	Standard	NM_004100		Approved		uc003qed.4	O95677	OTTHUMG00000015602	ENST00000367895.5:c.1670C>T	6.37:g.133844247C>T	ENSP00000356870:p.Ala557Val					RP3-323P13.2_ENST00000607033.1_RNA|EYA4_ENST00000431403.2_Missense_Mutation_p.A557V|EYA4_ENST00000430974.2_Missense_Mutation_p.A509V|EYA4_ENST00000531901.1_Missense_Mutation_p.A563V|EYA4_ENST00000355167.3_Missense_Mutation_p.A557V|EYA4_ENST00000355286.6_Missense_Mutation_p.A534V|EYA4_ENST00000525849.1_Missense_Mutation_p.A534V|EYA4_ENST00000452339.2_Missense_Mutation_p.A503V	p.A557V	NM_004100.4	NP_004091.3	O95677	EYA4_HUMAN		GBM - Glioblastoma multiforme(68;0.00457)|OV - Ovarian serous cystadenocarcinoma(155;0.0152)	18	2134	+	Colorectal(23;0.221)		557					B7Z7F7|O95464|O95679|Q8IW39|Q9NTR7	Missense_Mutation	SNP	ENST00000367895.5	37	c.1670C>T	CCDS5165.1	.	.	.	.	.	.	.	.	.	.	C	34	5.397392	0.96009	.	.	ENSG00000112319	ENST00000452339;ENST00000430974;ENST00000367895;ENST00000355167;ENST00000355286;ENST00000531901;ENST00000525849;ENST00000431403	T;T;T;T;T;T;T;T	0.81415	-1.49;-1.49;-1.49;-1.49;-1.49;-1.49;-1.49;-1.49	5.86	5.86	0.93980	EYA (1);Haloacid dehalogenase-like hydrolase (1);	0.046101	0.85682	D	0.000000	T	0.80737	0.4680	L	0.48935	1.535	0.80722	D	1	P;P;D;D;D;P	0.76494	0.918;0.954;0.999;0.998;0.969;0.863	B;B;P;P;B;B	0.52881	0.227;0.302;0.712;0.55;0.305;0.227	T	0.79619	-0.1728	10	0.49607	T	0.09	-12.7873	20.5632	0.99335	0.0:1.0:0.0:0.0	.	563;509;503;534;557;557	F2Z2Y1;E7ESD5;E7EN58;O95677-2;O95677-4;O95677	.;.;.;.;.;EYA4_HUMAN	V	503;509;557;557;534;563;534;557	ENSP00000395916:A503V;ENSP00000388670:A509V;ENSP00000356870:A557V;ENSP00000347294:A557V;ENSP00000347434:A534V;ENSP00000432770:A563V;ENSP00000433219:A534V;ENSP00000404558:A557V	ENSP00000347294:A557V	A	+	2	0	EYA4	133885940	1.000000	0.71417	0.995000	0.50966	0.885000	0.51271	7.776000	0.85560	2.937000	0.99478	0.650000	0.86243	GCG		0.338	EYA4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000042282.2	NM_004100		13	90	0	0	0	1	0	13	90					T	133844247	C	T	133844247	3	4	184	1	0	0	0	0	1	0	0	0	5331	768	27	1	1736	1	EYA4	6	133844247	Missense_Mutation	SNP	C	TCGA-G9-7519-01A-11D-2260-08	15053868	133844247	37270820	17	8615											
LPA	4018	broad.mit.edu	37	chr6	161020597	161020597	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atagatgaccaagcttggcaAgttcttcctgtgacagtggt	10	12	11	8	0	1	3	0	2	1	1	2	3	2	3	2	2	1	3	2	2	3	4			TCGA-G9-7519-01A-11D-2260-08	TCGA-G9-7519-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81dd038c-ba90-481c-90dc-c89b3048fc99	91e00401-e16e-4067-ae4d-28fce0a0425e	g.chr6:161020597A>G	ENST00000316300.5	-	20	3266	c.3222T>C	c.(3220-3222)acT>acC	p.T1074T	LPA_ENST00000447678.1_Silent_p.T1074T			P08519	APOA_HUMAN	lipoprotein, Lp(a)	3582	Kringle 10. {ECO:0000255|PROSITE- ProRule:PRU00121}.				blood circulation (GO:0008015)|lipid metabolic process (GO:0006629)|lipid transport (GO:0006869)|lipoprotein metabolic process (GO:0042157)|negative regulation of endopeptidase activity (GO:0010951)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|plasma lipoprotein particle (GO:0034358)	apolipoprotein binding (GO:0034185)|endopeptidase inhibitor activity (GO:0004866)|fibronectin binding (GO:0001968)|heparin binding (GO:0008201)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	AAGCTTGGCAAGTTCTTCCTG	0.498																																						ENST00000447678.1																			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107						c.(3220-3222)acT>acC		lipoprotein, Lp(a)	Aminocaproic Acid(DB00513)						283	303	296					6																	161020597		2203	4300	6503	SO:0001819	synonymous_variant	4018				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity	g.chr6:161020597A>G	X06290	CCDS43523.1	6q25-q26	2012-10-02			ENSG00000198670	ENSG00000198670			6667	protein-coding gene	gene with protein product		152200		LP		3670400	Standard	NM_005577		Approved		uc003qtl.3	P08519	OTTHUMG00000015956	ENST00000316300.5:c.3222T>C	6.37:g.161020597A>G						LPA_ENST00000316300.5_Silent_p.T1074T	p.T1074T	NM_005577.2	NP_005568.2	P08519	APOA_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	21	3342	-		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)	3582			Kringle 10.		Q5VTD7|Q9UD88	Silent	SNP	ENST00000316300.5	37	c.3222T>C	CCDS43523.1																																																																																				0.498	LPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042957.1	NM_005577		5	516	0	0	0	1	0	5	516					G	161020597	A	G	161020597	2	3	184	1	0	0	0	0	0	0	0	1	8903	59	3	4		4	LPA	6	161020597	Silent	SNP	A	TCGA-G9-7519-01A-11D-2260-08	27176350	161020597	10094470	18	8616											
SEMA3D	223117	broad.mit.edu	37	chr7	84628811	84628811	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctctgtgatgtcttcgatttCgtttcttcttcatttcctgc	3	21	6	11	2	5	1	1	1	4	0	8	2	6	1	1	0	1	1	1	0	0	6			TCGA-G9-7519-01A-11D-2260-08	TCGA-G9-7519-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81dd038c-ba90-481c-90dc-c89b3048fc99	91e00401-e16e-4067-ae4d-28fce0a0425e	g.chr7:84628811C>T	ENST00000284136.6	-	17	2322	c.2279G>A	c.(2278-2280)cGa>cAa	p.R760Q	SEMA3D_ENST00000484038.1_5'UTR	NM_152754.2	NP_689967.2	O95025	SEM3D_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3D	760	Arg/Lys-rich (basic).				cell differentiation (GO:0030154)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|membrane (GO:0016020)	receptor activity (GO:0004872)	p.R760Q(1)		NS(1)|breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(19)|lung(29)|ovary(3)|pancreas(1)|prostate(4)|skin(2)	73						TCTTCGATTTCGTTTCTTCTT	0.453																																					Ovarian(63;442 1191 17318 29975 31528)	ENST00000284136.6																			1	Substitution - Missense(1)	p.R760Q(1)	large_intestine(1)	NS(1)|breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(19)|lung(29)|ovary(3)|pancreas(1)|prostate(4)|skin(2)	73						c.(2278-2280)cGa>cAa		sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3D							180	146	158					7																	84628811		2203	4300	6503	SO:0001583	missense	223117				cell differentiation|nervous system development	extracellular region|membrane	receptor activity	g.chr7:84628811C>T	BC029590	CCDS34676.1	7q21.11	2013-01-11			ENSG00000153993	ENSG00000153993		"Semaphorins", "Immunoglobulin superfamily / V-set domain containing"	10726	protein-coding gene	gene with protein product		609907					Standard	NM_152754		Approved	coll-2, Sema-Z2	uc003uic.3	O95025	OTTHUMG00000154569	ENST00000284136.6:c.2279G>A	7.37:g.84628811C>T	ENSP00000284136:p.Arg760Gln					SEMA3D_ENST00000484038.1_5'UTR	p.R760Q	NM_152754.2	NP_689967.2	O95025	SEM3D_HUMAN			17	2322	-			760			Arg/Lys-rich (basic).		A6NK46|Q6UW77|Q8NCQ1	Missense_Mutation	SNP	ENST00000284136.6	37	c.2279G>A	CCDS34676.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.155987	0.78114	.	.	ENSG00000153993	ENST00000284136	T	0.36699	1.24	5.93	5.93	0.95920	.	0.114181	0.56097	D	0.000021	T	0.63070	0.2480	M	0.72118	2.19	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.62581	-0.6824	10	0.66056	D	0.02	.	20.3409	0.98764	0.0:1.0:0.0:0.0	.	760	O95025	SEM3D_HUMAN	Q	760	ENSP00000284136:R760Q	ENSP00000284136:R760Q	R	-	2	0	SEMA3D	84466747	1.000000	0.71417	0.980000	0.43619	0.271000	0.26615	7.224000	0.78042	2.814000	0.96858	0.655000	0.94253	CGA		0.453	SEMA3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336084.2	NM_152754		15	45	0	0	0	1	0	15	45					T	84628811	C	T	84628811	3	4	184	1	0	0	0	0	1	0	0	0	14027	884	31	2	58	2	SEMA3D	7	84628811	Missense_Mutation	SNP	C	TCGA-G9-7519-01A-11D-2260-08		84628811	74509852	19	8617											
ARHGEF5	7984	broad.mit.edu	37	chr7	144070332	144070332	+	Frame_Shift_Del	DEL	A	A	-																															gtccagagtatgcgacggacAgaggaactaatctacctgag																										TCGA-G9-7519-01A-11D-2260-08	TCGA-G9-7519-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81dd038c-ba90-481c-90dc-c89b3048fc99	91e00401-e16e-4067-ae4d-28fce0a0425e	g.chr7:144070332delA	ENST00000056217.5	+	10	4269	c.4095delA	c.(4093-4095)acafs	p.T1365fs	ARHGEF5_ENST00000471847.2_Frame_Shift_Del_p.T287fs	NM_005435.3	NP_005426.2	Q12774	ARHG5_HUMAN	Rho guanine nucleotide exchange factor (GEF) 5	1365					actin cytoskeleton organization (GO:0030036)|intracellular signal transduction (GO:0035556)|myeloid dendritic cell chemotaxis (GO:0002408)|positive regulation of podosome assembly (GO:0071803)|regulation of Rho GTPase activity (GO:0032319)		GTP binding (GO:0005525)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|endometrium(6)|kidney(8)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	Melanoma(164;0.14)					TGCGACGGACAGAGGAACTAA	0.522																																						ENST00000056217.5																			0				breast(1)|endometrium(6)|kidney(8)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						c.(4093-4095)acfs		Rho guanine nucleotide exchange factor (GEF) 5							141	129	133					7																	144070332		2012	4030	6042	SO:0001589	frameshift_variant	7984				intracellular signal transduction|regulation of Rho protein signal transduction	intracellular	GTP binding|protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr7:144070332delA	U02082	CCDS34771.1	7q35	2012-09-20			ENSG00000050327	ENSG00000050327		"Rho guanine nucleotide exchange factors"	13209	protein-coding gene	gene with protein product	"transforming immortalized mammary oncogene", "guanine nucleotide regulatory protein TIM"	600888				8134109, 7656213	Standard	NM_005435		Approved	TIM, TIM1, GEF5, P60	uc003wel.3	Q12774	OTTHUMG00000158004	ENST00000056217.5:c.4095delA	7.37:g.144070332delA	ENSP00000056217:p.Thr1365fs					ARHGEF5_ENST00000471847.2_Frame_Shift_Del_p.T287fs	p.T1365fs	NM_005435.3	NP_005426.2	Q12774	ARHG5_HUMAN			10	4269	+	Melanoma(164;0.14)		1365					A6NNJ2|Q6ZML7	Frame_Shift_Del	DEL	ENST00000056217.5	37	c.4095delA	CCDS34771.1																																																																																				0.522	ARHGEF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349981.1	NM_005435		18	201						18	201	---	---	---	---	-	144070332	A	-	144070332	7	5	184	1	0	1	0	1	0	0	0	0	909	175	7	0	4129	0	ARHGEF5	7	144070332	Frame_Shift_Del	DEL	A	TCGA-G9-7519-01A-11D-2260-08	59441521	144070332	15068331	20	8618											
MTERFD1	51001	broad.mit.edu	37	chr8	97269341	97269341	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aatggaggcaattcatccagTtctttgaaagagagaaacaa	17	9	9	6	0	2	3	1	1	1	2	3	5	3	4	1	2	1	2	1	2	5	3			TCGA-G9-7519-01A-11D-2260-08	TCGA-G9-7519-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81dd038c-ba90-481c-90dc-c89b3048fc99	91e00401-e16e-4067-ae4d-28fce0a0425e	g.chr8:97269341T>C	ENST00000287025.3	-	3	434	c.336A>G	c.(334-336)gaA>gaG	p.E112E	MTERFD1_ENST00000524341.1_5'Flank|MTERFD1_ENST00000523821.1_Splice_Site_p.E112E|MTERFD1_ENST00000522822.1_5'UTR	NM_015942.3	NP_057026.3	Q96E29	MTEF3_HUMAN		112					negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	mitochondrion (GO:0005739)	transcription regulatory region DNA binding (GO:0044212)			endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	24	Breast(36;5.16e-05)					ATTCATCCAGTTCTTTGAAAG	0.408																																						ENST00000523821.1																			0				endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	24						c.e3-1		MTERF domain containing 1							103	98	100					8																	97269341		2203	4300	6503	SO:0001630	splice_region_variant	51001				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion	transcription regulatory region DNA binding	g.chr8:97269341T>C																												ENST00000287025.3:c.335-1A>G	8.37:g.97269341T>C						MTERFD1_ENST00000287025.3_Splice_Site_p.E112_splice|MTERFD1_ENST00000522822.1_5'UTR	p.E112_splice			Q96E29	MTER1_HUMAN			3	455	-	Breast(36;5.16e-05)		112					B3KMG6|G3V130|Q9Y301	Splice_Site	SNP	ENST00000287025.3	37	c.334_splice	CCDS6270.1																																																																																				0.408	MTERFD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379876.1		Silent	4	77	0	0	0	1	0	4	77					C	97269341	T	C	97269341	5	2	184	1	0	0	0	0	0	0	1	0	9919	1739	60	4	941	4	MTERFD1	8	97269341	Splice_Site	SNP	T	TCGA-G9-7519-01A-11D-2260-08		97269341	49094681	21	8619											
UBR5	51366	broad.mit.edu	37	chr8	103291368	103291368	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgtcatggagtctgaacgtcGgaaaaatggatggttttggc	10	12	14	5	2	2	1	1	1	1	0	3	4	2	4	0	5	1	1	0	5	3	2			TCGA-G9-7519-01A-11D-2260-08	TCGA-G9-7519-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81dd038c-ba90-481c-90dc-c89b3048fc99	91e00401-e16e-4067-ae4d-28fce0a0425e	g.chr8:103291368G>A	ENST00000520539.1	-	43	6676	c.6070C>T	c.(6070-6072)Cga>Tga	p.R2024*	UBR5_ENST00000521922.1_Nonsense_Mutation_p.R2018*|UBR5_ENST00000220959.4_Nonsense_Mutation_p.R2024*	NM_001282873.1|NM_015902.5	NP_001269802.1|NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5	2024					cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|negative regulation of double-strand break repair (GO:2000780)|negative regulation of histone H2A K63-linked ubiquitination (GO:1901315)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of protein import into nucleus, translocation (GO:0033160)|progesterone receptor signaling pathway (GO:0050847)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|RNA binding (GO:0003723)|ubiquitin-protein transferase activity (GO:0004842)|ubiquitin-ubiquitin ligase activity (GO:0034450)|zinc ion binding (GO:0008270)			NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			TCTGAACGTCGGAAAAATGGA	0.423																																					Ovarian(131;96 1741 5634 7352 27489)	ENST00000520539.1																			0				NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124						c.(6070-6072)Cga>Tga		ubiquitin protein ligase E3 component n-recognin 5							110	110	110					8																	103291368		2203	4300	6503	SO:0001587	stop_gained	51366				cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding	g.chr8:103291368G>A	AF006010	CCDS34933.1, CCDS64946.1	8q22	2008-06-23	2007-06-19	2007-06-19	ENSG00000104517	ENSG00000104517		"Ubiquitin protein ligase E3 component n-recognins"	16806	protein-coding gene	gene with protein product		608413	"E3 ubiquitin protein ligase, HECT domain containing, 1"	EDD1		10030672, 16055722	Standard	NM_015902		Approved	DD5, HYD, EDD, KIAA0896	uc003ykr.2	O95071	OTTHUMG00000164755	ENST00000520539.1:c.6070C>T	8.37:g.103291368G>A	ENSP00000429084:p.Arg2024*					UBR5_ENST00000521922.1_Nonsense_Mutation_p.R2018*|UBR5_ENST00000220959.4_Nonsense_Mutation_p.R2024*	p.R2024*	NM_015902.5	NP_056986.2	O95071	UBR5_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.000442)		43	6676	-	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		2024					B2RP24|J3KMW7|O94970|Q9NPL3	Nonsense_Mutation	SNP	ENST00000520539.1	37	c.6070C>T	CCDS34933.1	.	.	.	.	.	.	.	.	.	.	G	51	17.345442	0.99884	.	.	ENSG00000104517	ENST00000520539;ENST00000220959;ENST00000521922	.	.	.	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	16.1994	0.82060	0.0:0.0:0.8592:0.1408	.	.	.	.	X	2024;2024;2018	.	ENSP00000220959:R2024X	R	-	1	2	UBR5	103360544	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.122000	0.71608	2.941000	0.99782	0.655000	0.94253	CGA		0.423	UBR5-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000380075.2	NM_015902		10	107	0	0	0	1	0	10	107					A	103291368	G	A	103291368	4	1	184	1	0	0	0	0	0	1	0	0	16902	1124	39	2	2397	2	UBR5	8	103291368	Nonsense_Mutation	SNP	G	TCGA-G9-7519-01A-11D-2260-08	6022027	103291368	43072654	22	8620											
IFNA4	3441	broad.mit.edu	37	chr9	21186979	21186979	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttcaatccttcctccttaaTcttttttgcaagtttgttga	7	21	4	9	0	2	1	1	1	1	0	5	1	5	1	3	0	1	3	3	0	3	8			TCGA-G9-7519-01A-11D-2260-08	TCGA-G9-7519-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81dd038c-ba90-481c-90dc-c89b3048fc99	91e00401-e16e-4067-ae4d-28fce0a0425e	g.chr9:21186979T>C	ENST00000421715.1	-	1	619	c.552A>G	c.(550-552)agA>agG	p.R184R		NM_021068.2	NP_066546.1	P05014	IFNA4_HUMAN	interferon, alpha 4	184					adaptive immune response (GO:0002250)|B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|natural killer cell activation involved in immune response (GO:0002323)|positive regulation of peptidyl-serine phosphorylation of STAT protein (GO:0033141)|regulation of MHC class I biosynthetic process (GO:0045343)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to exogenous dsRNA (GO:0043330)|response to virus (GO:0009615)|T cell activation involved in immune response (GO:0002286)|type I interferon signaling pathway (GO:0060337)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	cytokine activity (GO:0005125)|type I interferon receptor binding (GO:0005132)			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	17				GBM - Glioblastoma multiforme(5;2.69e-202)|Lung(24;2.26e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)		TCCTCCTTAATCTTTTTTGCA	0.388																																					NSCLC(154;890 1986 23660 27800 51138)	ENST00000421715.1																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	17						c.(550-552)agA>agG		interferon, alpha 4							168	170	169					9																	21186979		2203	4300	6503	SO:0001819	synonymous_variant	3441				blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|interferon-alpha/beta receptor binding	g.chr9:21186979T>C		CCDS6498.1	9p22	2010-08-24			ENSG00000236637	ENSG00000236637		"Interferons"	5425	protein-coding gene	gene with protein product		147564				1385305	Standard	NM_021068		Approved	MGC142200, IFN-alpha4a	uc003zon.2	P05014	OTTHUMG00000019660	ENST00000421715.1:c.552A>G	9.37:g.21186979T>C							p.R184R	NM_021068.2	NP_066546.1	P05014	IFNA4_HUMAN		GBM - Glioblastoma multiforme(5;2.69e-202)|Lung(24;2.26e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)	1	619	-			184					P13358|Q14CS4|Q5VV15	Silent	SNP	ENST00000421715.1	37	c.552A>G	CCDS6498.1																																																																																				0.388	IFNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051889.1	NM_021068		7	197	0	0	0	1	0	7	197					C	21186979	T	C	21186979	2	2	184	1	0	0	0	0	0	0	0	1	7539	1432	50	4		4	IFNA4	9	21186979	Silent	SNP	T	TCGA-G9-7519-01A-11D-2260-08		21186979	120026452	23	8621											
TDRD1	56165	broad.mit.edu	37	chr10	115971690	115971690	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aagaatctgtactggtcggaTatgtagattatggaaacttt	13	14	10	4	1	1	2	0	0	1	2	2	4	1	4	0	3	2	2	0	3	7	5			TCGA-G9-7519-01A-11D-2260-08	TCGA-G9-7519-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81dd038c-ba90-481c-90dc-c89b3048fc99	91e00401-e16e-4067-ae4d-28fce0a0425e	g.chr10:115971690T>C	ENST00000369280.1	+	14	2186	c.1726T>C	c.(1726-1728)Tat>Cat	p.Y576H	TDRD1_ENST00000369281.2_Intron|TDRD1_ENST00000422662.1_Intron|TDRD1_ENST00000251864.2_Missense_Mutation_p.Y576H|TDRD1_ENST00000369282.1_Missense_Mutation_p.Y576H			Q9BXT4	TDRD1_HUMAN	tudor domain containing 1	576	Tudor 2. {ECO:0000255|PROSITE- ProRule:PRU00211}.				DNA methylation involved in gamete generation (GO:0043046)|gene silencing by RNA (GO:0031047)|germ cell development (GO:0007281)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|piRNA metabolic process (GO:0034587)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|P granule (GO:0043186)|pi-body (GO:0071546)	metal ion binding (GO:0046872)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(5)	48		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0343)|all cancers(201;0.0754)		ACTGGTCGGATATGTAGATTA	0.393																																						ENST00000251864.2																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(5)	48						c.(1726-1728)Tat>Cat		tudor domain containing 1							173	165	168					10																	115971690		2203	4300	6503	SO:0001583	missense	56165				DNA methylation involved in gamete generation|gene silencing by RNA|germ cell development|meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	pi-body	nucleic acid binding|protein binding|zinc ion binding	g.chr10:115971690T>C	AF285606	CCDS7588.1	10q26.11	2013-01-23			ENSG00000095627	ENSG00000095627		"Tudor domain containing"	11712	protein-coding gene	gene with protein product	"cancer/testis antigen 41.1"	605796				11279525	Standard	NM_198795		Approved	CT41.1	uc001lbg.1	Q9BXT4	OTTHUMG00000019083	ENST00000369280.1:c.1726T>C	10.37:g.115971690T>C	ENSP00000358286:p.Tyr576His					TDRD1_ENST00000369281.2_Intron|TDRD1_ENST00000369282.1_Missense_Mutation_p.Y576H|TDRD1_ENST00000422662.1_Intron|TDRD1_ENST00000369280.1_Missense_Mutation_p.Y576H	p.Y576H	NM_198795.1	NP_942090.1	Q9BXT4	TDRD1_HUMAN		Epithelial(162;0.0343)|all cancers(201;0.0754)	14	1879	+		Colorectal(252;0.172)|Breast(234;0.188)	576			Tudor 2.		A6NEN3|A6NMN2|B3KVI4|B4E2L5|D3DRC2|Q4G0Y8|Q6P518|Q9H7B3	Missense_Mutation	SNP	ENST00000369280.1	37	c.1726T>C		.	.	.	.	.	.	.	.	.	.	T	23.6	4.429727	0.83776	.	.	ENSG00000095627	ENST00000369282;ENST00000251864;ENST00000369280	T;T;T	0.12147	2.71;2.71;2.71	5.8	5.8	0.92144	Tudor subgroup (1);Maternal tudor protein (1);Tudor domain (1);	0.066303	0.64402	D	0.000007	T	0.44623	0.1302	M	0.89478	3.035	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.51655	-0.8678	10	0.62326	D	0.03	-21.952	14.7213	0.69308	0.0:0.0:0.0:1.0	.	576;576	Q9BXT4;Q9BXT4-3	TDRD1_HUMAN;.	H	576	ENSP00000358288:Y576H;ENSP00000251864:Y576H;ENSP00000358286:Y576H	ENSP00000251864:Y576H	Y	+	1	0	TDRD1	115961680	1.000000	0.71417	0.998000	0.56505	0.988000	0.76386	6.666000	0.74446	2.203000	0.70933	0.460000	0.39030	TAT		0.393	TDRD1-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000050457.2			5	81	0	0	0	1	0	5	81					C	115971690	T	C	115971690	3	2	184	1	0	0	0	0	1	0	0	0	15727	1406	49	4	1776	4	TDRD1	10	115971690	Missense_Mutation	SNP	T	TCGA-G9-7519-01A-11D-2260-08		115971690	19563057	24	8622											
PTPN5	84867	broad.mit.edu	37	chr11	18763990	18763990	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggcggctcactgactggcGcctgtcctcagggggcagtg	4	8	16	13	2	2	1	2	1	0	0	3	1	3	1	2	5	0	2	2	5	0	0			TCGA-G9-7519-01A-11D-2260-08	TCGA-G9-7519-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81dd038c-ba90-481c-90dc-c89b3048fc99	91e00401-e16e-4067-ae4d-28fce0a0425e	g.chr11:18763990G>A	ENST00000358540.2	-	7	974	c.544C>T	c.(544-546)Cgc>Tgc	p.R182C	PTPN5_ENST00000396167.2_Missense_Mutation_p.R150C|PTPN5_ENST00000496201.2_5'UTR|PTPN5_ENST00000396168.1_Missense_Mutation_p.R158C|PTPN5_ENST00000396171.4_Missense_Mutation_p.R182C|RP11-1081L13.4_ENST00000527285.1_RNA|PTPN5_ENST00000396170.1_Missense_Mutation_p.R150C|PTPN5_ENST00000477854.1_5'UTR	NM_006906.1	NP_008837.1	P54829	PTN5_HUMAN	protein tyrosine phosphatase, non-receptor type 5 (striatum-enriched)	182					peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	phosphotyrosine binding (GO:0001784)|protein tyrosine phosphatase activity (GO:0004725)			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(13)|ovary(2)|prostate(1)|skin(4)	27						ACTGACTGGCGCCTGTCCTCA	0.632																																						ENST00000396170.1																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(13)|ovary(2)|prostate(1)|skin(4)	27						c.(448-450)Cgc>Tgc		protein tyrosine phosphatase, non-receptor type 5 (striatum-enriched)							47	50	49					11																	18763990		2199	4293	6492	SO:0001583	missense	84867					integral to membrane	phosphotyrosine binding|protein tyrosine phosphatase activity	g.chr11:18763990G>A	BC064807	CCDS7845.1, CCDS41626.1, CCDS60746.1	11p15.1	2011-06-09			ENSG00000110786	ENSG00000110786		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"	9657	protein-coding gene	gene with protein product		176879				1714595	Standard	NM_001278236		Approved	STEP, PTPSTEP	uc001mpc.4	P54829	OTTHUMG00000134304	ENST00000358540.2:c.544C>T	11.37:g.18763990G>A	ENSP00000351342:p.Arg182Cys					PTPN5_ENST00000396168.1_Missense_Mutation_p.R158C|PTPN5_ENST00000496201.2_5'UTR|PTPN5_ENST00000358540.2_Missense_Mutation_p.R182C|PTPN5_ENST00000396167.2_Missense_Mutation_p.R150C|PTPN5_ENST00000477854.1_5'UTR|PTPN5_ENST00000396171.4_Missense_Mutation_p.R182C	p.R150C	NM_001278236.1	NP_001265165.1	P54829	PTN5_HUMAN			7	1712	-			182					B3KXG7|B7Z386|B7ZAF5|D3DQY7|Q6P1Z2|Q8N2A1|Q8NDP8	Missense_Mutation	SNP	ENST00000358540.2	37	c.448C>T	CCDS7845.1	.	.	.	.	.	.	.	.	.	.	G	26.0	4.699138	0.88830	.	.	ENSG00000110786	ENST00000358540;ENST00000396170;ENST00000396171;ENST00000396167;ENST00000396168	T;T;T;T;T	0.05025	3.51;3.68;3.51;3.68;3.54	4.94	4.94	0.65067	.	0.000000	0.85682	D	0.000000	T	0.15565	0.0375	L	0.27053	0.805	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.996	T	0.02797	-1.1109	10	0.87932	D	0	.	16.3618	0.83270	0.0:0.0:1.0:0.0	.	182;150	P54829;B3KXG7	PTN5_HUMAN;.	C	182;150;182;150;158	ENSP00000351342:R182C;ENSP00000379473:R150C;ENSP00000379474:R182C;ENSP00000379470:R150C;ENSP00000379471:R158C	ENSP00000351342:R182C	R	-	1	0	PTPN5	18720566	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.080000	0.94040	2.290000	0.77057	0.561000	0.74099	CGC		0.632	PTPN5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000259196.2	NM_001039970		8	63	0	0	0	1	0	8	63					A	18763990	G	A	18763990	3	1	184	1	0	0	0	0	1	0	0	0	12791	1087	38	1	1189	1	PTPN5	11	18763990	Missense_Mutation	SNP	G	TCGA-G9-7519-01A-11D-2260-08		18763990	116242526	25	8623											
LRP5	4041	broad.mit.edu	37	chr11	68216515	68216515	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atctcttcccgccccctccgTccccctgcacggactcatcc	4	9	5	23	3	2	0	1	0	1	0	7	1	6	1	7	1	1	1	7	1	0	1			TCGA-G9-7519-01A-11D-2260-08	TCGA-G9-7519-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81dd038c-ba90-481c-90dc-c89b3048fc99	91e00401-e16e-4067-ae4d-28fce0a0425e	g.chr11:68216515T>C	ENST00000294304.7	+	23	4931	c.4825T>C	c.(4825-4827)Tcc>Ccc	p.S1609P	LRP5_ENST00000529481.1_3'UTR	NM_002335.2	NP_002326.2	O75197	LRP5_HUMAN	low density lipoprotein receptor-related protein 5	1609	Pro-rich.				adipose tissue development (GO:0060612)|anatomical structure regression (GO:0060033)|anterior/posterior pattern specification (GO:0009952)|apoptotic process involved in patterning of blood vessels (GO:1902262)|bone marrow development (GO:0048539)|bone morphogenesis (GO:0060349)|bone remodeling (GO:0046849)|branching involved in mammary gland duct morphogenesis (GO:0060444)|canonical Wnt signaling pathway (GO:0060070)|cell migration involved in gastrulation (GO:0042074)|cell-cell signaling involved in mammary gland development (GO:0060764)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic digit morphogenesis (GO:0042733)|embryonic limb morphogenesis (GO:0030326)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|endocytosis (GO:0006897)|extracellular matrix-cell signaling (GO:0035426)|gastrulation with mouth forming second (GO:0001702)|glucose catabolic process (GO:0006007)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|osteoblast development (GO:0002076)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of mitosis (GO:0045840)|positive regulation of osteoblast proliferation (GO:0033690)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of apoptotic process (GO:0042981)|regulation of blood pressure (GO:0008217)|regulation of bone remodeling (GO:0046850)|regulation of canonical Wnt signaling pathway (GO:0060828)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|response to peptide hormone (GO:0043434)|retina morphogenesis in camera-type eye (GO:0060042)|retinal blood vessel morphogenesis (GO:0061304)|somatic stem cell maintenance (GO:0035019)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway involved in dorsal/ventral axis specification (GO:0044332)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	coreceptor activity (GO:0015026)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						GCCCCCTCCGTCCCCCTGCAC	0.582																																						ENST00000294304.7																			0				autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						c.(4825-4827)Tcc>Ccc		low density lipoprotein receptor-related protein 5							33	36	35					11																	68216515		2200	4292	6492	SO:0001583	missense	4041				adipose tissue development|bone marrow development|bone morphogenesis|canonical Wnt receptor signaling pathway|cholesterol homeostasis|endocytosis|glucose catabolic process|negative regulation of osteoblast differentiation|negative regulation of protein serine/threonine kinase activity|positive regulation of fat cell differentiation|positive regulation of mesenchymal cell proliferation|positive regulation of mitosis|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of canonical Wnt receptor signaling pathway|retina morphogenesis in camera-type eye|retinal blood vessel morphogenesis|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	endoplasmic reticulum|integral to membrane|plasma membrane|receptor complex	protein binding|receptor activity	g.chr11:68216515T>C	AF064548	CCDS8181.1	11q13.4	2014-01-28	2003-03-12		ENSG00000162337	ENSG00000162337		"Low density lipoprotein receptors"	6697	protein-coding gene	gene with protein product		603506	"osteoporosis pseudoglioma syndrome", "exudative vitreoretinopathy 1"	LRP7, OPPG, EVR1		9714764, 10049586	Standard	XM_005273994		Approved	LR3, BMND1, HBM, OPS, OPTA1, VBCH2, EVR4	uc001ont.3	O75197	OTTHUMG00000167570	ENST00000294304.7:c.4825T>C	11.37:g.68216515T>C	ENSP00000294304:p.Ser1609Pro					LRP5_ENST00000529481.1_3'UTR	p.S1609P	NM_002335.2	NP_002326.2	O75197	LRP5_HUMAN			23	4931	+			1609			Pro-rich.		Q96TD6|Q9UES7|Q9UP66	Missense_Mutation	SNP	ENST00000294304.7	37	c.4825T>C	CCDS8181.1	.	.	.	.	.	.	.	.	.	.	T	16.07	3.019969	0.54576	.	.	ENSG00000162337	ENST00000294304	D	0.96830	-4.14	4.53	4.53	0.55603	.	0.000000	0.46145	U	0.000317	D	0.97791	0.9275	M	0.78637	2.42	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.87578	0.998;0.998	D	0.98611	1.0663	10	0.87932	D	0	.	14.0922	0.64998	0.0:0.0:0.0:1.0	.	1609;1609	Q9UES7;O75197	.;LRP5_HUMAN	P	1609	ENSP00000294304:S1609P	ENSP00000294304:S1609P	S	+	1	0	LRP5	67973091	1.000000	0.71417	0.932000	0.37286	0.021000	0.10359	7.395000	0.79876	1.919000	0.55581	0.454000	0.30748	TCC		0.582	LRP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395088.1	NM_002335		3	129	0	0	0	1	0	3	129					C	68216515	T	C	68216515	3	2	184	1	0	0	0	0	1	0	0	0	8960	1667	58	4	4915	4	LRP5	11	68216515	Missense_Mutation	SNP	T	TCGA-G9-7519-01A-11D-2260-08	49452525	68216515	66790001	26	8624											
CLEC7A	64581	broad.mit.edu	37	chr12	10271128	10271128	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttggtcataaatgactgacaCgtgaatccatacacaatttg	14	12	7	8	1	1	3	1	3	0	0	2	3	2	3	1	1	1	0	1	1	5	4			TCGA-G9-7519-01A-11D-2260-08	TCGA-G9-7519-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81dd038c-ba90-481c-90dc-c89b3048fc99	91e00401-e16e-4067-ae4d-28fce0a0425e	g.chr12:10271128C>T	ENST00000304084.8	-	6	827	c.673G>A	c.(673-675)Gtg>Atg	p.V225M	CLEC7A_ENST00000298523.5_Missense_Mutation_p.R139H|CLEC7A_ENST00000533022.1_Missense_Mutation_p.R185H|CLEC7A_ENST00000353231.5_Missense_Mutation_p.V179M|CLEC7A_ENST00000396484.2_Missense_Mutation_p.V146M	NM_197947.2	NP_922938.1	Q9BXN2	CLC7A_HUMAN	C-type lectin domain family 7, member A	225	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				carbohydrate mediated signaling (GO:0009756)|cell recognition (GO:0008037)|defense response to protozoan (GO:0042832)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|pattern recognition receptor signaling pathway (GO:0002221)|phagocytosis, recognition (GO:0006910)|T cell activation (GO:0042110)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|MHC protein binding (GO:0042287)|signaling pattern recognition receptor activity (GO:0008329)			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(1)	7						ATGACTGACACGTGAATCCAT	0.378																																						ENST00000353231.5																			0				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(1)	7						c.(535-537)Gtg>Atg		C-type lectin domain family 7, member A							180	169	173					12																	10271128		2203	4300	6503	SO:0001583	missense	64581				carbohydrate mediated signaling|defense response to protozoan|inflammatory response|innate immune response|phagocytosis, recognition|T cell activation	cytoplasm|integral to membrane	metal ion binding|MHC protein binding|sugar binding	g.chr12:10271128C>T	AY009090	CCDS8613.1, CCDS8614.1, CCDS8617.1, CCDS41753.1, CCDS41754.1, CCDS53744.1	12p13.2-p12.3	2014-09-17		2005-02-09	ENSG00000172243	ENSG00000172243		"C-type lectin domain containing"	14558	protein-coding gene	gene with protein product		606264	"C-type (calcium dependent, carbohydrate-recognition domain) lectin, superfamily member 12"	CLECSF12			Standard	XM_005253468		Approved	dectin-1, hDectin-1	uc001qxg.2	Q9BXN2	OTTHUMG00000133597	ENST00000304084.8:c.673G>A	12.37:g.10271128C>T	ENSP00000302569:p.Val225Met					CLEC7A_ENST00000396484.2_Missense_Mutation_p.V146M|CLEC7A_ENST00000304084.8_Missense_Mutation_p.V225M|CLEC7A_ENST00000298523.5_Missense_Mutation_p.R139H|CLEC7A_ENST00000533022.1_Missense_Mutation_p.R185H	p.V179M	NM_022570.4	NP_072092.2	Q9BXN2	CLC7A_HUMAN			5	693	-			225			C-type lectin.		B2R861|B7Z494|B7Z5A9|B7Z5B9|Q6IPS7|Q96D32|Q96DR9|Q96LD3|Q96PA4|Q96PA5|Q96PA6|Q96PA7|Q96PA8|Q9H1K3	Missense_Mutation	SNP	ENST00000304084.8	37	c.535G>A	CCDS41753.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	2.421|2.421	-0.333113|-0.333113	0.05278|0.05278	.|.	.|.	ENSG00000172243|ENSG00000172243	ENST00000298523;ENST00000533022|ENST00000353231;ENST00000396484;ENST00000304084	T;T|T;T;T	0.07444|0.18810	3.19;3.32|2.19;2.19;2.19	3.84|3.84	-4.82|-4.82	0.03171|0.03171	.|C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	.|1.261980	.|0.05787	.|N	.|0.609560	T|T	0.11623|0.11623	0.0283|0.0283	.|.	.|.	.|.	0.09310|0.09310	N|N	1|1	B;B|P;P;P	0.02656|0.40431	0.0;0.0|0.481;0.717;0.676	B;B|B;B;B	0.01281|0.33454	0.0;0.0|0.075;0.164;0.068	T|T	0.21724|0.21724	-1.0237|-1.0237	8|9	0.51188|0.40728	T|T	0.08|0.16	.|.	6.4407|6.4407	0.21849|0.21849	0.0:0.188:0.4335:0.3785|0.0:0.188:0.4335:0.3785	.|.	185;139|146;225;179	Q9BXN2-3;Q9BXN2-7|Q9BXN2-5;Q9BXN2;Q9BXN2-2	.;.|.;CLC7A_HUMAN;.	H|M	139;185|179;146;225	ENSP00000298523:R139H;ENSP00000431461:R185H|ENSP00000266456:V179M;ENSP00000379743:V146M;ENSP00000302569:V225M	ENSP00000298523:R139H|ENSP00000302569:V225M	R|V	-|-	2|1	0|0	CLEC7A|CLEC7A	10162395|10162395	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.015000|0.015000	0.08874|0.08874	-4.665000|-4.665000	0.00201|0.00201	-1.149000|-1.149000	0.02843|0.02843	-0.843000|-0.843000	0.03049|0.03049	CGT|GTG		0.378	CLEC7A-013	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390772.1	NM_197954		11	112	0	0	0	1	0	11	112					T	10271128	C	T	10271128	3	4	184	1	0	0	0	0	1	0	0	0	3521	536	19	1	74	1	CLEC7A	12	10271128	Missense_Mutation	SNP	C	TCGA-G9-7519-01A-11D-2260-08		10271128	123580767	27	8625											
MFSD5	84975	broad.mit.edu	37	chr12	53647321	53647321	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	cggcagcgtgccttctcaagGacctgtgctggaggcctgcg	5	8	15	13	3	1	0	1	0	1	0	2	2	1	2	3	4	4	2	3	4	1	1			TCGA-G9-7519-01A-11D-2260-08	TCGA-G9-7519-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81dd038c-ba90-481c-90dc-c89b3048fc99	91e00401-e16e-4067-ae4d-28fce0a0425e	g.chr12:53647321G>C	ENST00000329548.4	+	2	893	c.702G>C	c.(700-702)agG>agC	p.R234S	MFSD5_ENST00000534842.1_Missense_Mutation_p.R341S	NM_032889.4	NP_116278.3	Q6N075	MFSD5_HUMAN	major facilitator superfamily domain containing 5	234					ion transport (GO:0006811)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|skin(3)|urinary_tract(1)	16						CCTTCTCAAGGACCTGTGCTG	0.602																																						ENST00000534842.1																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|skin(3)|urinary_tract(1)	16						c.(1021-1023)agG>agC		major facilitator superfamily domain containing 5							83	83	83					12																	53647321		2203	4300	6503	SO:0001583	missense	84975				transport	integral to membrane		g.chr12:53647321G>C	AK097576	CCDS8851.1, CCDS53796.1	12q13.13	2012-03-09			ENSG00000182544	ENSG00000182544			28156	protein-coding gene	gene with protein product							Standard	NM_032889		Approved	MGC11308	uc001sch.2	Q6N075	OTTHUMG00000170028	ENST00000329548.4:c.702G>C	12.37:g.53647321G>C	ENSP00000332624:p.Arg234Ser					MFSD5_ENST00000329548.4_Missense_Mutation_p.R234S	p.R341S	NM_001170790.1	NP_001164261.1	Q6N075	MFSD5_HUMAN			2	1170	+			234					G3V1N7|Q6NW04|Q8N7W8|Q8NCK0|Q96IA5	Missense_Mutation	SNP	ENST00000329548.4	37	c.1023G>C	CCDS8851.1	.	.	.	.	.	.	.	.	.	.	G	10.27	1.304476	0.23736	.	.	ENSG00000182544	ENST00000551660;ENST00000534842;ENST00000328704;ENST00000329548	T;T	0.80393	-1.37;-1.37	4.77	3.81	0.43845	Major facilitator superfamily domain, general substrate transporter (1);	0.115711	0.56097	D	0.000034	T	0.64649	0.2617	L	0.39397	1.21	0.39310	D	0.965056	B;P	0.38370	0.285;0.628	B;B	0.30316	0.096;0.114	T	0.62364	-0.6870	10	0.19147	T	0.46	-3.05	7.2521	0.26156	0.0934:0.1742:0.7324:0.0	.	234;341	Q6N075;G3V1N7	MFSD5_HUMAN;.	S	341;341;341;234	ENSP00000442688:R341S;ENSP00000332624:R234S	ENSP00000331231:R341S	R	+	3	2	MFSD5	51933588	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.283000	0.33237	2.196000	0.70406	0.561000	0.74099	AGG		0.602	MFSD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406896.1	NM_032889		12	74	0	0	0	1	0	12	74					C	53647321	G	C	53647321	3	2	184	1	0	0	0	0	1	0	0	0	9534	1165	41	5	1029	5	MFSD5	12	53647321	Missense_Mutation	SNP	G	TCGA-G9-7519-01A-11D-2260-08	43376193	53647321	80204574	28	8626											
SRGAP1	57522	broad.mit.edu	37	chr12	64536384	64536384	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	caaaacctgctgttcttccaAaaacaaatcctaccatagga	16	9	4	12	0	1	0	0	0	1	0	3	1	3	1	4	1	4	2	4	1	7	4			TCGA-G9-7519-01A-11D-2260-08	TCGA-G9-7519-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81dd038c-ba90-481c-90dc-c89b3048fc99	91e00401-e16e-4067-ae4d-28fce0a0425e	g.chr12:64536384A>G	ENST00000355086.3	+	22	3714	c.3190A>G	c.(3190-3192)Aaa>Gaa	p.K1064E	SRGAP1_ENST00000357825.3_Missense_Mutation_p.K1041E|SRGAP1_ENST00000543397.1_Missense_Mutation_p.K1001E	NM_020762.2	NP_065813.1	Q7Z6B7	SRGP1_HUMAN	SLIT-ROBO Rho GTPase activating protein 1	1064					axon guidance (GO:0007411)|cell migration (GO:0016477)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	Rho GTPase activator activity (GO:0005100)			breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	65			GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225)	GBM - Glioblastoma multiforme(28;0.0608)		TGTTCTTCCAAAAACAAATCC	0.522																																						ENST00000355086.3																			0				breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	65						c.(3190-3192)Aaa>Gaa		SLIT-ROBO Rho GTPase activating protein 1							116	117	117					12																	64536384		2203	4300	6503	SO:0001583	missense	57522				axon guidance	cytosol		g.chr12:64536384A>G	AB037725	CCDS8967.1	12q13.13	2011-07-04			ENSG00000196935	ENSG00000196935		"Rho GTPase activating proteins"	17382	protein-coding gene	gene with protein product		606523				11672528	Standard	NM_020762		Approved	KIAA1304, ARHGAP13	uc010ssp.1	Q7Z6B7	OTTHUMG00000168750	ENST00000355086.3:c.3190A>G	12.37:g.64536384A>G	ENSP00000347198:p.Lys1064Glu					SRGAP1_ENST00000543397.1_Missense_Mutation_p.K1001E|SRGAP1_ENST00000357825.3_Missense_Mutation_p.K1041E	p.K1064E	NM_020762.2	NP_065813.1	Q7Z6B7	SRGP1_HUMAN	GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225)	GBM - Glioblastoma multiforme(28;0.0608)	22	3714	+			1064					Q9H8A3|Q9P2P2	Missense_Mutation	SNP	ENST00000355086.3	37	c.3190A>G	CCDS8967.1	.	.	.	.	.	.	.	.	.	.	A	17.51	3.407059	0.62399	.	.	ENSG00000196935	ENST00000355086;ENST00000357825;ENST00000543397	T;T;T	0.32272	1.46;1.46;1.46	5.91	4.75	0.60458	.	0.000000	0.37178	U	0.002201	T	0.38719	0.1051	L	0.61218	1.895	0.50467	D	0.999874	B;P	0.45212	0.094;0.853	B;P	0.47430	0.039;0.547	T	0.11743	-1.0575	9	.	.	.	.	12.4335	0.55586	0.8741:0.0:0.0:0.1258	.	1064;1001	Q7Z6B7;G5EA48	SRGP1_HUMAN;.	E	1064;1041;1001	ENSP00000347198:K1064E;ENSP00000350480:K1041E;ENSP00000437948:K1001E	.	K	+	1	0	SRGAP1	62822651	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.281000	0.78621	1.037000	0.40024	0.379000	0.24179	AAA		0.522	SRGAP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000400896.1			4	90	0	0	0	1	0	4	90					G	64536384	A	G	64536384	3	3	184	1	0	0	0	0	1	0	0	0	15144	15	1	4	3276	4	SRGAP1	12	64536384	Missense_Mutation	SNP	A	TCGA-G9-7519-01A-11D-2260-08	10889063	64536384	69315511	29	8627											
MYO1H	283446	broad.mit.edu	37	chr12	109834250	109834250	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aactaaataaccatttcatcCtcatttctggagagagtggg	13	12	8	8	0	3	1	2	0	1	1	4	3	4	2	2	2	2	0	2	2	4	4			TCGA-G9-7519-01A-11D-2260-08	TCGA-G9-7519-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81dd038c-ba90-481c-90dc-c89b3048fc99	91e00401-e16e-4067-ae4d-28fce0a0425e	g.chr12:109834250C>G	ENST00000431443.2	+	3	304	c.304C>G	c.(304-306)Ctc>Gtc	p.L102V	MYO1H_ENST00000310903.5_Missense_Mutation_p.L102V	NM_001101421.3	NP_001094891.3	Q8N1T3	MYO1H_HUMAN	myosin IH	102	Myosin motor.					myosin complex (GO:0016459)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(17)|prostate(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	47						CCATTTCATCCTCATTTCTGG	0.458																																						ENST00000310903.5																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(17)|prostate(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	47						c.(304-306)Ctc>Gtc		myosin IH							68	68	68					12																	109834250		1957	4152	6109	SO:0001583	missense	283446					myosin complex	motor activity	g.chr12:109834250C>G		CCDS53826.1	12q24.11	2011-09-27			ENSG00000174527	ENSG00000174527		"Myosins / Myosin superfamily : Class I"	13879	protein-coding gene	gene with protein product		614636					Standard	NM_001101421		Approved	FLJ37587	uc010sxn.1	Q8N1T3	OTTHUMG00000169252	ENST00000431443.2:c.304C>G	12.37:g.109834250C>G	ENSP00000444076:p.Leu102Val					MYO1H_ENST00000431443.2_Missense_Mutation_p.L102V	p.L102V			B4DNW6	B4DNW6_HUMAN			4	410	+			0					F5H3C6	Missense_Mutation	SNP	ENST00000431443.2	37	c.304C>G		.	.	.	.	.	.	.	.	.	.	C	21.3	4.131520	0.77662	.	.	ENSG00000174527	ENST00000310903;ENST00000431443	D;D	0.85773	-2.03;-2.03	4.8	4.8	0.61643	.	.	.	.	.	D	0.90331	0.6975	L	0.60067	1.865	0.43719	D	0.996198	D	0.89917	1.0	D	0.87578	0.998	D	0.87617	0.2507	9	0.24483	T	0.36	.	17.7816	0.88526	0.0:1.0:0.0:0.0	.	102	F5H3C6	.	V	102	ENSP00000439182:L102V;ENSP00000444076:L102V	ENSP00000439182:L102V	L	+	1	0	MYO1H	108318633	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.258000	0.51507	2.615000	0.88500	0.644000	0.83932	CTC		0.458	MYO1H-201	KNOWN	basic	protein_coding	protein_coding		NM_173597		4	40	0	0	0	1	0	4	40					G	109834250	C	G	109834250	3	3	184	1	0	0	0	0	1	0	0	0	10075	681	24	5	314	5	MYO1H	12	109834250	Missense_Mutation	SNP	C	TCGA-G9-7519-01A-11D-2260-08	45297866	109834250	24017645	30	8628											
FHOD1	29109	broad.mit.edu	37	chr16	67266040	67266040	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggttaggccgatgttgatggCgttgctgcgcttggggtcca	4	12	17	8	3	0	1	0	1	0	0	1	2	1	1	2	5	2	5	2	5	1	4			TCGA-G9-7519-01A-11D-2260-08	TCGA-G9-7519-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81dd038c-ba90-481c-90dc-c89b3048fc99	91e00401-e16e-4067-ae4d-28fce0a0425e	g.chr16:67266040C>T	ENST00000258201.4	-	14	2351	c.2104G>A	c.(2104-2106)Gcc>Acc	p.A702T		NM_013241.2	NP_037373.2	Q9Y613	FHOD1_HUMAN	formin homology 2 domain containing 1	702	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.|Interaction with ROCK1.				positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|membrane (GO:0016020)|nucleus (GO:0005634)	identical protein binding (GO:0042802)			breast(4)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	34		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.000691)|Epithelial(162;0.00462)|all cancers(182;0.0434)		ATGTTGATGGCGTTGCTGCGC	0.562																																						ENST00000258201.4																			0				breast(4)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	34						c.(2104-2106)Gcc>Acc		formin homology 2 domain containing 1							183	141	155					16																	67266040		2198	4300	6498	SO:0001583	missense	29109				actin cytoskeleton organization	cytoplasm|cytoskeleton|nucleus	actin binding	g.chr16:67266040C>T	AF113615	CCDS10834.1	16q22	2008-02-22			ENSG00000135723	ENSG00000135723			17905	protein-coding gene	gene with protein product		606881				10352228, 16112087	Standard	NM_013241		Approved	FHOS	uc002esl.3	Q9Y613	OTTHUMG00000137521	ENST00000258201.4:c.2104G>A	16.37:g.67266040C>T	ENSP00000258201:p.Ala702Thr					FHOD1_ENST00000567687.1_Missense_Mutation_p.A281T	p.A702T	NM_013241.2	NP_037373.2	Q9Y613	FHOD1_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.000691)|Epithelial(162;0.00462)|all cancers(182;0.0434)	14	2351	-		Ovarian(137;0.0563)	702			FH2.|Interaction with ROCK1.		Q59F76|Q6Y1F2|Q76MS8|Q8N521	Missense_Mutation	SNP	ENST00000258201.4	37	c.2104G>A	CCDS10834.1	.	.	.	.	.	.	.	.	.	.	C	19.47	3.833932	0.71373	.	.	ENSG00000135723	ENST00000258201	T	0.16897	2.31	5.75	5.75	0.90469	Actin-binding FH2/DRF autoregulatory (1);Actin-binding FH2 (3);	0.095895	0.64402	D	0.000001	T	0.43919	0.1269	M	0.76574	2.34	0.80722	D	1	D	0.64830	0.994	D	0.67548	0.952	T	0.29027	-1.0025	10	0.72032	D	0.01	.	18.503	0.90888	0.0:1.0:0.0:0.0	.	702	Q9Y613	FHOD1_HUMAN	T	702	ENSP00000258201:A702T	ENSP00000258201:A702T	A	-	1	0	FHOD1	65823541	1.000000	0.71417	0.991000	0.47740	0.971000	0.66376	7.818000	0.86416	2.713000	0.92767	0.655000	0.94253	GCC		0.562	FHOD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268844.2			6	74	0	0	0	1	0	6	74					T	67266040	C	T	67266040	3	4	184	1	0	0	0	0	1	0	0	0	5882	768	27	1	1426	1	FHOD1	16	67266040	Missense_Mutation	SNP	C	TCGA-G9-7519-01A-11D-2260-08		67266040	23088713	31	8629											
OR3A1	4994	broad.mit.edu	37	chr17	3195699	3195699	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggaagaagtacatgggggTgtggagtttgggctccacca	10	8	16	7	0	0	1	0	0	0	1	1	3	1	3	2	5	1	3	2	5	3	2			TCGA-G9-7519-01A-11D-2260-08	TCGA-G9-7519-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81dd038c-ba90-481c-90dc-c89b3048fc99	91e00401-e16e-4067-ae4d-28fce0a0425e	g.chr17:3195699T>C	ENST00000323404.1	-	1	177	c.178A>G	c.(178-180)Acc>Gcc	p.T60A	RP11-64J4.2_ENST00000573491.1_RNA	NM_002550.2	NP_002541.2	P47881	OR3A1_HUMAN	olfactory receptor, family 3, subfamily A, member 1	60					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	20						TACATGGGGGTGTGGAGTTTG	0.562																																					GBM(20;287 516 18743 28660 36594)	ENST00000323404.1																			0				central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	20						c.(178-180)Acc>Gcc		olfactory receptor, family 3, subfamily A, member 1							88	77	81					17																	3195699		2203	4300	6503	SO:0001583	missense	4994				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr17:3195699T>C	X80391	CCDS11023.1	17p13.3	2012-08-09			ENSG00000180090	ENSG00000180090		"GPCR / Class A : Olfactory receptors"	8282	protein-coding gene	gene with protein product						8921386, 8647456	Standard	NM_002550		Approved	OLFRA03, OR40, OR17-40	uc002fvh.1	P47881	OTTHUMG00000090642	ENST00000323404.1:c.178A>G	17.37:g.3195699T>C	ENSP00000313803:p.Thr60Ala					RP11-64J4.2_ENST00000573491.1_RNA	p.T60A	NM_002550.2	NP_002541.2	P47881	OR3A1_HUMAN			1	177	-			60					Q4VB06|Q6IFM4	Missense_Mutation	SNP	ENST00000323404.1	37	c.178A>G	CCDS11023.1	.	.	.	.	.	.	.	.	.	.	T	14.43	2.534181	0.45073	.	.	ENSG00000180090	ENST00000323404	T	0.00472	7.19	5.83	3.57	0.40892	GPCR, rhodopsin-like superfamily (1);	0.126956	0.35936	N	0.002894	T	0.00608	0.0020	M	0.82193	2.58	0.21220	N	0.999753	B	0.17852	0.024	B	0.21151	0.033	T	0.43718	-0.9374	10	0.62326	D	0.03	-32.5981	7.1325	0.25510	0.1308:0.072:0.0:0.7971	.	60	P47881	OR3A1_HUMAN	A	60	ENSP00000313803:T60A	ENSP00000313803:T60A	T	-	1	0	OR3A1	3142449	0.999000	0.42202	1.000000	0.80357	0.932000	0.56968	1.488000	0.35551	0.431000	0.26258	0.528000	0.53228	ACC		0.562	OR3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207302.2			3	42	0	0	0	1	0	3	42					C	3195699	T	C	3195699	3	2	184	1	0	0	0	0	1	0	0	0	11037	1696	59	4	773	4	OR3A1	17	3195699	Missense_Mutation	SNP	T	TCGA-G9-7519-01A-11D-2260-08		3195699	77999511	32	8630											
KRT31	3881	broad.mit.edu	37	chr17	39550306	39550306	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagggcccacagcgggggcGtggggcacagggtgtgcagg	6	3	22	10	2	0	0	0	0	0	0	0	0	0	0	1	7	2	3	1	7	0	0			TCGA-G9-7519-01A-11D-2260-08	TCGA-G9-7519-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81dd038c-ba90-481c-90dc-c89b3048fc99	91e00401-e16e-4067-ae4d-28fce0a0425e	g.chr17:39550306G>A	ENST00000251645.2	-	7	1265	c.1213C>T	c.(1213-1215)Cgc>Tgc	p.R405C		NM_002277.2	NP_002268.2	Q15323	K1H1_HUMAN	keratin 31	405	Tail.				epidermis development (GO:0008544)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural constituent of cytoskeleton (GO:0005200)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	31		Breast(137;0.000496)				CAGCGGGGGCGTGGGGCACAG	0.642																																						ENST00000251645.2																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	31						c.(1213-1215)Cgc>Tgc		keratin 31							71	62	65					17																	39550306		2203	4300	6503	SO:0001583	missense	3881				epidermis development	intermediate filament	protein binding|structural constituent of cytoskeleton	g.chr17:39550306G>A	X86570	CCDS11391.1	17q21.2	2014-05-20	2006-07-17	2006-07-17	ENSG00000094796	ENSG00000094796		"-", "Intermediate filaments type I, keratins (acidic)"	6448	protein-coding gene	gene with protein product	"hard keratin type I 1"	601077	"keratin, hair, acidic, 1"	KRTHA1		7578244, 16831889	Standard	NM_002277		Approved	Ha-1	uc002hwn.3	Q15323	OTTHUMG00000133423	ENST00000251645.2:c.1213C>T	17.37:g.39550306G>A	ENSP00000251645:p.Arg405Cys						p.R405C	NM_002277.2	NP_002268.2	Q15323	K1H1_HUMAN			7	1265	-		Breast(137;0.000496)	405			Tail.		Q9UE12	Missense_Mutation	SNP	ENST00000251645.2	37	c.1213C>T	CCDS11391.1	.	.	.	.	.	.	.	.	.	.	g	21.4	4.142529	0.77888	.	.	ENSG00000094796	ENST00000251645	D	0.82081	-1.57	5.52	5.52	0.82312	.	0.111520	0.40554	N	0.001061	D	0.88175	0.6366	L	0.52364	1.645	0.50467	D	0.999877	D	0.89917	1.0	D	0.77557	0.99	D	0.87449	0.2400	10	0.45353	T	0.12	.	14.9451	0.71023	0.0:0.0:1.0:0.0	.	405	Q15323	K1H1_HUMAN	C	405	ENSP00000251645:R405C	ENSP00000251645:R405C	R	-	1	0	KRT31	36803832	0.961000	0.32948	0.965000	0.40720	0.954000	0.61252	2.347000	0.44036	2.612000	0.88384	0.655000	0.94253	CGC		0.642	KRT31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257286.1	NM_002277		6	67	0	0	0	1	0	6	67					A	39550306	G	A	39550306	3	1	184	1	0	0	0	0	1	0	0	0	8467	1145	40	1	41	1	KRT31	17	39550306	Missense_Mutation	SNP	G	TCGA-G9-7519-01A-11D-2260-08	36354607	39550306	41644904	33	8631											
TM6SF2	53345	broad.mit.edu	37	chr19	19379456	19379456	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caccatgttggcggtgcagcGggttagcgcccggggctggc	4	7	18	12	4	0	0	0	0	0	0	0	0	0	0	2	6	3	4	2	6	1	2			TCGA-G9-7519-01A-11D-2260-08	TCGA-G9-7519-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81dd038c-ba90-481c-90dc-c89b3048fc99	91e00401-e16e-4067-ae4d-28fce0a0425e	g.chr19:19379456G>A	ENST00000389363.4	-	6	664	c.592C>T	c.(592-594)Cgc>Tgc	p.R198C	TM6SF2_ENST00000586107.1_5'Flank|AC138430.4_ENST00000586064.2_RNA	NM_001001524.2	NP_001001524.2	Q9BZW4	TM6S2_HUMAN	transmembrane 6 superfamily member 2	198						integral component of membrane (GO:0016021)				breast(2)|kidney(1)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	14			Epithelial(12;0.0151)			GCGGTGCAGCGGGTTAGCGCC	0.577																																						ENST00000389363.4																			0				breast(2)|kidney(1)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	14						c.(592-594)Cgc>Tgc		transmembrane 6 superfamily member 2							61	65	64					19																	19379456		1978	4162	6140	SO:0001583	missense	53345					integral to membrane		g.chr19:19379456G>A	AF255923	CCDS42528.1	19p13.3-p12	2008-02-05							11861	protein-coding gene	gene with protein product		606563				11124529	Standard	NM_001001524		Approved	Lpr4	uc002nmd.1	Q9BZW4		ENST00000389363.4:c.592C>T	19.37:g.19379456G>A	ENSP00000374014:p.Arg198Cys					AC138430.4_ENST00000586064.2_RNA	p.R198C	NM_001001524.2	NP_001001524.2	Q9BZW4	TM6S2_HUMAN	Epithelial(12;0.0151)		6	664	-			198					Q0IJ64	Missense_Mutation	SNP	ENST00000389363.4	37	c.592C>T	CCDS42528.1	.	.	.	.	.	.	.	.	.	.	G	8.911	0.958771	0.18507	.	.	ENSG00000213996	ENST00000389363;ENST00000269990	T	0.29397	1.57	4.86	-3.65	0.04502	.	0.955595	0.08598	N	0.921948	T	0.05868	0.0153	N	0.00237	-1.79	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.26950	-1.0088	10	0.49607	T	0.09	-0.7129	0.9955	0.01465	0.4173:0.1096:0.1501:0.323	.	198	Q9BZW4	TM6S2_HUMAN	C	198	ENSP00000374014:R198C	ENSP00000269990:R198C	R	-	1	0	TM6SF2	19240456	0.002000	0.14202	0.010000	0.14722	0.158000	0.22134	-0.199000	0.09491	-0.381000	0.07882	-0.373000	0.07131	CGC		0.577	TM6SF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460122.2	NM_203510		4	53	0	0	0	1	0	4	53					A	19379456	G	A	19379456	3	1	184	1	0	0	0	0	1	0	0	0	15970	1116	39	2	561	2	TM6SF2	19	19379456	Missense_Mutation	SNP	G	TCGA-G9-7519-01A-11D-2260-08		19379456	39749527	34	8632											
KLK14	43847	broad.mit.edu	37	chr19	51582742	51582742	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agttccccagcctgacactcGgcaggaggtcccggggctgg	6	6	15	14	2	0	1	0	1	0	0	3	2	2	2	4	6	1	3	4	6	0	1	rs373580926		TCGA-G9-7519-01A-11D-2260-08	TCGA-G9-7519-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81dd038c-ba90-481c-90dc-c89b3048fc99	91e00401-e16e-4067-ae4d-28fce0a0425e	g.chr19:51582742G>A	ENST00000156499.2	-	5	696	c.478C>T	c.(478-480)Cga>Tga	p.R160*	KLK14_ENST00000391802.1_Nonsense_Mutation_p.R160*			Q9P0G3	KLK14_HUMAN	kallikrein-related peptidase 14	160	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				epidermis morphogenesis (GO:0048730)|fertilization (GO:0009566)|negative regulation of G-protein coupled receptor protein signaling pathway (GO:0045744)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)|proteolysis (GO:0006508)|seminal clot liquefaction (GO:0070684)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase activity (GO:0004252)			kidney(4)|large_intestine(1)|lung(4)|skin(1)|urinary_tract(1)	11		all_neural(266;0.0199)		OV - Ovarian serous cystadenocarcinoma(262;0.00328)|GBM - Glioblastoma multiforme(134;0.00422)		CCTGACACTCGGCAGGAGGTC	0.662													g|||	1	0.000199681	8e-04	0	5008	,	,		16553	0		0	False		,,,				2504	0				GBM(117;2161 2172 2448 22911)	ENST00000391802.1																			0				kidney(4)|large_intestine(1)|lung(4)|skin(1)|urinary_tract(1)	11						c.(478-480)Cga>Tga		kallikrein-related peptidase 14			stop/ARG	3,3895		0,3,1946	32	36	35		478	2.8	0.5	19		35	0,8314		0,0,4157	no	stop-gained	KLK14	NM_022046.4		0,3,6103	AA,AG,GG		0.0,0.077,0.0246		160/268	51582742	3,12209	1949	4157	6106	SO:0001587	stop_gained	43847				epidermis morphogenesis|fertilization|negative regulation of G-protein coupled receptor protein signaling pathway|positive regulation of G-protein coupled receptor protein signaling pathway|proteolysis|seminal clot liquefaction	extracellular space	serine-type endopeptidase activity	g.chr19:51582742G>A	AF283670	CCDS12823.2	19q13.3-q13.4	2008-02-05	2006-10-27		ENSG00000129437	ENSG00000129437		"Kallikreins"	6362	protein-coding gene	gene with protein product		606135	"kallikrein 14"			16800724, 16800723	Standard	XM_006723224		Approved	KLK-L6	uc002pvs.1	Q9P0G3	OTTHUMG00000143721	ENST00000156499.2:c.478C>T	19.37:g.51582742G>A	ENSP00000156499:p.Arg160*					KLK14_ENST00000156499.2_Nonsense_Mutation_p.R160*	p.R160*	NM_022046.4	NP_071329.2	Q9P0G3	KLK14_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00328)|GBM - Glioblastoma multiforme(134;0.00422)	5	696	-		all_neural(266;0.0199)	160			Peptidase S1.		A7UNK5|Q1RMZ2|Q6B089	Nonsense_Mutation	SNP	ENST00000156499.2	37	c.478C>T	CCDS12823.2	.	.	.	.	.	.	.	.	.	.	.	35	5.457605	0.96240	7.7E-4	0.0	ENSG00000129437	ENST00000156499;ENST00000391802	.	.	.	5.04	2.78	0.32641	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.32370	T	0.25	.	11.652	0.51295	0.0:0.0:0.6772:0.3228	.	.	.	.	X	160	.	ENSP00000156499:R160X	R	-	1	2	KLK14	56274554	0.001000	0.12720	0.517000	0.27799	0.540000	0.34992	-0.228000	0.09114	0.480000	0.27534	0.466000	0.42574	CGA		0.662	KLK14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000289774.2	NM_022046		4	42	0	0	0	1	0	4	42					A	51582742	G	A	51582742	4	1	184	1	0	0	0	0	0	1	0	0	8402	1124	39	2	337	2	KLK14	19	51582742	Nonsense_Mutation	SNP	G	TCGA-G9-7519-01A-11D-2260-08	32203286	51582742	7546241	35	8633											
MX1	4599	broad.mit.edu	37	chr21	42821112	42821112	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaatttgaaaatcagtatcGtggtagagagctgccaggct	13	10	12	6	1	1	2	1	1	0	1	2	4	1	2	1	2	2	4	1	2	5	3	rs375670151		TCGA-G9-7519-01A-11D-2260-08	TCGA-G9-7519-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81dd038c-ba90-481c-90dc-c89b3048fc99	91e00401-e16e-4067-ae4d-28fce0a0425e	g.chr21:42821112G>A	ENST00000398600.2	+	16	2347	c.1322G>A	c.(1321-1323)cGt>cAt	p.R441H	MX1_ENST00000455164.2_Missense_Mutation_p.R441H|MX1_ENST00000398598.3_Missense_Mutation_p.R441H|MX1_ENST00000288383.6_Missense_Mutation_p.R418H	NM_001144925.1	NP_001138397.1	P20591	MX1_HUMAN	MX dynamin-like GTPase 1	441	Middle domain.|Stalk.				apoptotic process (GO:0006915)|cytokine-mediated signaling pathway (GO:0019221)|defense response (GO:0006952)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of viral genome replication (GO:0045071)|response to type I interferon (GO:0034340)|response to virus (GO:0009615)|signal transduction (GO:0007165)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(9)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	27		Prostate(19;3.18e-07)|all_epithelial(19;0.0277)				AATCAGTATCGTGGTAGAGAG	0.378																																						ENST00000398600.2																			0				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(9)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	27						c.(1321-1323)cGt>cAt		myxovirus (influenza virus) resistance 1, interferon-inducible protein p78 (mouse)		G	HIS/ARG,HIS/ARG,HIS/ARG	0,4406		0,0,2203	74	84	80		1322,1322,1322	3.9	0.9	21		80	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	MX1	NM_001144925.1,NM_001178046.1,NM_002462.3	29,29,29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging	441/663,441/663,441/663	42821112	1,13005	2203	4300	6503	SO:0001583	missense	4599				induction of apoptosis|response to virus|type I interferon-mediated signaling pathway	cytosol	GTP binding|GTPase activity|protein binding	g.chr21:42821112G>A		CCDS13673.1, CCDS74796.1	21q22.3	2014-07-15	2014-07-15		ENSG00000157601	ENSG00000157601			7532	protein-coding gene	gene with protein product	"interferon-inducible protein p78"	147150	"myxovirus (influenza) resistance 1, homolog of murine (interferon-inducible protein p78)", "myxovirus (influenza virus) resistance 1, interferon-inducible protein p78 (mouse)"			17570575	Standard	XM_005260979		Approved	IFI-78K, MxA	uc010goq.3	P20591	OTTHUMG00000086755	ENST00000398600.2:c.1322G>A	21.37:g.42821112G>A	ENSP00000381601:p.Arg441His					MX1_ENST00000288383.6_Missense_Mutation_p.R418H|MX1_ENST00000455164.2_Missense_Mutation_p.R441H|MX1_ENST00000398598.3_Missense_Mutation_p.R441H	p.R441H	NM_001144925.1	NP_001138397.1	P20591	MX1_HUMAN			16	2347	+		Prostate(19;3.18e-07)|all_epithelial(19;0.0277)	441					B2RDA5|B3KU10|C9IYV7|C9J8D6|C9JN19|C9JN88|C9JUL1|C9JZS6|D3DSI8|Q86YP5|Q96CI3	Missense_Mutation	SNP	ENST00000398600.2	37	c.1322G>A	CCDS13673.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.269560	0.80469	0.0	1.16E-4	ENSG00000157601	ENST00000398600;ENST00000398598;ENST00000455164;ENST00000288383	T;T;T;T	0.74315	-0.83;-0.83;-0.83;-0.83	4.81	3.93	0.45458	Dynamin central domain (1);	0.000000	0.85682	D	0.000000	D	0.88243	0.6384	M	0.92219	3.285	0.58432	D	0.999999	D	0.89917	1.0	D	0.85130	0.997	D	0.90294	0.4325	10	0.72032	D	0.01	-7.2294	12.301	0.54874	0.0848:0.0:0.9151:0.0	.	441	P20591	MX1_HUMAN	H	441;441;441;418	ENSP00000381601:R441H;ENSP00000381599:R441H;ENSP00000410523:R441H;ENSP00000288383:R418H	ENSP00000288383:R418H	R	+	2	0	MX1	41742982	1.000000	0.71417	0.879000	0.34478	0.687000	0.40016	5.823000	0.69272	1.334000	0.45468	0.655000	0.94253	CGT		0.378	MX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195161.2			9	57	0	0	0	1	0	9	57					A	42821112	G	A	42821112	3	1	184	1	0	0	0	0	1	0	0	0	9997	1145	40	1	1360	1	MX1	21	42821112	Missense_Mutation	SNP	G	TCGA-G9-7519-01A-11D-2260-08		42821112	5308783	36	8634											
TFIP11	24144	broad.mit.edu	37	chr22	26899663	26899663	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cttcctctgagtcaaccacaGggaagtcttgcatggactga	10	10	10	11	0	3	2	1	2	2	0	4	4	4	4	2	2	2	1	2	2	2	2			TCGA-G9-7519-01A-11D-2260-08	TCGA-G9-7519-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81dd038c-ba90-481c-90dc-c89b3048fc99	91e00401-e16e-4067-ae4d-28fce0a0425e	g.chr22:26899663G>A	ENST00000407690.1	-	7	900	c.617C>T	c.(616-618)cCt>cTt	p.P206L	TFIP11_ENST00000496523.1_5'UTR|TFIP11_ENST00000407148.1_Missense_Mutation_p.P206L|TFIP11_ENST00000405938.1_Missense_Mutation_p.P206L|TFIP11_ENST00000407431.1_Missense_Mutation_p.P206L	NM_012143.2	NP_036275.1	Q9UBB9	TFP11_HUMAN	tuftelin interacting protein 11	206					biomineral tissue development (GO:0031214)|mRNA splicing, via spliceosome (GO:0000398)|regulation of transcription, DNA-templated (GO:0006355)|RNA processing (GO:0006396)|spliceosomal complex disassembly (GO:0000390)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|proteinaceous extracellular matrix (GO:0005578)|spliceosomal complex (GO:0005681)|U2-type post-mRNA release spliceosomal complex (GO:0071008)	DNA binding (GO:0003677)			breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|liver(1)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	25						GTCAACCACAGGGAAGTCTTG	0.493																																						ENST00000407690.1																			0				breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|liver(1)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	25						c.(616-618)cCt>cTt		tuftelin interacting protein 11							158	127	137					22																	26899663		2203	4300	6503	SO:0001583	missense	24144				biomineral tissue development	catalytic step 2 spliceosome|cytoplasm|nuclear speck	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr22:26899663G>A	AL050258	CCDS13838.1	22q12.1	2013-01-28			ENSG00000100109	ENSG00000100109		"G patch domain containing"	17165	protein-coding gene	gene with protein product		612747				10806191, 11230166	Standard	NM_012143		Approved	TIP39, DKFZP434B194, Spp382	uc003acs.2	Q9UBB9	OTTHUMG00000150883	ENST00000407690.1:c.617C>T	22.37:g.26899663G>A	ENSP00000384421:p.Pro206Leu					TFIP11_ENST00000405938.1_Missense_Mutation_p.P206L|TFIP11_ENST00000407431.1_Missense_Mutation_p.P206L|TFIP11_ENST00000407148.1_Missense_Mutation_p.P206L|TFIP11_ENST00000496523.1_5'UTR	p.P206L	NM_012143.2	NP_036275.1	Q9UBB9	TFP11_HUMAN			7	900	-			206					O95908|Q20WL0|Q5H8V8|Q9UGV7|Q9Y2Q8	Missense_Mutation	SNP	ENST00000407690.1	37	c.617C>T	CCDS13838.1	.	.	.	.	.	.	.	.	.	.	G	33	5.243777	0.95272	.	.	ENSG00000100109	ENST00000407690;ENST00000407431;ENST00000407148;ENST00000405938	T;T;T;T	0.44083	0.93;0.93;0.93;0.93	5.39	5.39	0.77823	.	0.000000	0.85682	D	0.000000	T	0.63070	0.2480	M	0.65975	2.015	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.55860	-0.8074	10	0.27082	T	0.32	-22.3964	18.333	0.90277	0.0:0.0:1.0:0.0	.	206	Q9UBB9	TFP11_HUMAN	L	206	ENSP00000384421:P206L;ENSP00000383892:P206L;ENSP00000385861:P206L;ENSP00000384297:P206L	ENSP00000384297:P206L	P	-	2	0	TFIP11	25229663	1.000000	0.71417	0.999000	0.59377	0.964000	0.63967	9.258000	0.95555	2.804000	0.96469	0.655000	0.94253	CCT		0.493	TFIP11-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320750.1	NM_001008697		28	61	0	0	0	1	0	28	61					A	26899663	G	A	26899663	3	1	184	1	0	0	0	0	1	0	0	0	15804	1000	35	3	1932	3	TFIP11	22	26899663	Missense_Mutation	SNP	G	TCGA-G9-7519-01A-11D-2260-08		26899663	24404903	37	8635											
KDELR3	11015	broad.mit.edu	37	chr22	38877382	38877382	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggatcaggcggtaccagactGagaatttctatgaccaaatt	13	10	10	8	1	2	3	1	2	1	2	2	5	2	4	2	3	1	1	2	3	4	4			TCGA-G9-7519-01A-11D-2260-08	TCGA-G9-7519-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81dd038c-ba90-481c-90dc-c89b3048fc99	91e00401-e16e-4067-ae4d-28fce0a0425e	g.chr22:38877382G>A	ENST00000216014.4	+	4	689	c.517G>A	c.(517-519)Gag>Aag	p.E173K	KDELR3_ENST00000471268.1_3'UTR|KDELR3_ENST00000409006.3_Missense_Mutation_p.E173K	NM_006855.2	NP_006846.1	O43731	ERD23_HUMAN	KDEL (Lys-Asp-Glu-Leu) endoplasmic reticulum protein retention receptor 3	173					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|protein retention in ER lumen (GO:0006621)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	ER retention sequence binding (GO:0046923)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)	13	Melanoma(58;0.0286)					GTACCAGACTGAGAATTTCTA	0.478																																					Ovarian(11;103 529 24120 28493 32980)	ENST00000216014.4																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)	13						c.(517-519)Gag>Aag		KDEL (Lys-Asp-Glu-Leu) endoplasmic reticulum protein retention receptor 3							160	142	148					22																	38877382		2203	4300	6503	SO:0001583	missense	0				protein retention in ER lumen|protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|integral to membrane	ER retention sequence binding|receptor activity	g.chr22:38877382G>A	AL035081	CCDS13972.1, CCDS46705.1	22q13	2008-05-02			ENSG00000100196	ENSG00000100196			6306	protein-coding gene	gene with protein product							Standard	NM_006855		Approved		uc003avu.3	O43731	OTTHUMG00000153520	ENST00000216014.4:c.517G>A	22.37:g.38877382G>A	ENSP00000216014:p.Glu173Lys					KDELR3_ENST00000471268.1_3'UTR|KDELR3_ENST00000409006.3_Missense_Mutation_p.E173K	p.E173K	NM_006855.2	NP_006846.1	O43731	ERD23_HUMAN			4	689	+	Melanoma(58;0.0286)		173					A8K7T7|B8ZZ26|O95557|Q4V750|Q4V767|Q53FP4|Q53GK1	Missense_Mutation	SNP	ENST00000216014.4	37	c.517G>A	CCDS13972.1	.	.	.	.	.	.	.	.	.	.	G	34	5.307001	0.95629	.	.	ENSG00000100196	ENST00000216014;ENST00000409006	T;T	0.80033	-1.33;-1.33	4.97	4.97	0.65823	.	0.000000	0.85682	D	0.000000	D	0.90587	0.7049	H	0.96916	3.905	0.80722	D	1	P;P	0.44776	0.843;0.779	P;P	0.48873	0.558;0.593	D	0.93088	0.6497	10	0.54805	T	0.06	-11.1028	18.4255	0.90607	0.0:0.0:1.0:0.0	.	173;173	O43731;O43731-2	ERD23_HUMAN;.	K	173	ENSP00000216014:E173K;ENSP00000386918:E173K	ENSP00000216014:E173K	E	+	1	0	KDELR3	37207328	1.000000	0.71417	0.982000	0.44146	0.997000	0.91878	9.657000	0.98554	2.595000	0.87683	0.650000	0.86243	GAG		0.478	KDELR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331474.1			3	106	0	0	0	1	0	3	106					A	38877382	G	A	38877382	3	1	184	1	0	0	0	0	1	0	0	0	8121	1291	45	3	531	3	KDELR3	22	38877382	Missense_Mutation	SNP	G	TCGA-G9-7519-01A-11D-2260-08	11977719	38877382	12427184	38	8636											
GPM6B	2824	broad.mit.edu	37	chrX	13798050	13798050	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agaacataaacacgggcaccGctgagaaaccaaacacaccc	18	2	7	14	2	0	2	0	1	0	2	0	3	0	2	3	1	4	2	3	1	5	1			TCGA-G9-7519-01A-11D-2260-08	TCGA-G9-7519-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81dd038c-ba90-481c-90dc-c89b3048fc99	91e00401-e16e-4067-ae4d-28fce0a0425e	g.chrX:13798050G>A	ENST00000356942.5	-	4	905	c.464C>T	c.(463-465)gCg>gTg	p.A155V	GPM6B_ENST00000493677.1_Missense_Mutation_p.A169V|GPM6B_ENST00000398361.3_Missense_Mutation_p.A69V|GPM6B_ENST00000454189.2_Missense_Mutation_p.A136V|GPM6B_ENST00000316715.4_Missense_Mutation_p.A195V|GPM6B_ENST00000355135.2_Missense_Mutation_p.A195V	NM_005278.3	NP_005269.1	Q13491	GPM6B_HUMAN	glycoprotein M6B	155					cell differentiation (GO:0030154)|extracellular matrix assembly (GO:0085029)|negative regulation of protein localization to cell surface (GO:2000009)|negative regulation of serotonin uptake (GO:0051612)|nervous system development (GO:0007399)|ossification (GO:0001503)|positive regulation of bone mineralization (GO:0030501)|protein transport (GO:0015031)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of focal adhesion assembly (GO:0051893)	integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|ovary(1)|pancreas(1)	6						CACGGGCACCGCTGAGAAACC	0.502																																						ENST00000454189.2																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|ovary(1)|pancreas(1)	6						c.(406-408)gCg>gTg		glycoprotein M6B							185	150	161					X																	13798050		2203	4300	6503	SO:0001583	missense	2824				cell differentiation|nervous system development	integral to membrane		g.chrX:13798050G>A		CCDS14158.1, CCDS35206.1, CCDS35207.1, CCDS48084.1	Xp22.2	2010-08-03			ENSG00000046653	ENSG00000046653			4461	protein-coding gene	gene with protein product		300051				8661015	Standard	NM_001001995		Approved	M6B, MGC17150, MGC54284	uc004cvw.3	Q13491	OTTHUMG00000021162	ENST00000356942.5:c.464C>T	X.37:g.13798050G>A	ENSP00000349420:p.Ala155Val					GPM6B_ENST00000316715.4_Missense_Mutation_p.A195V|GPM6B_ENST00000398361.3_Missense_Mutation_p.A69V|GPM6B_ENST00000355135.2_Missense_Mutation_p.A195V|GPM6B_ENST00000493677.1_Missense_Mutation_p.A169V|GPM6B_ENST00000356942.5_Missense_Mutation_p.A155V	p.A136V	NM_001001994.1	NP_001001994.1	Q13491	GPM6B_HUMAN			4	534	-			155					O76077|Q86X43|Q8N956	Missense_Mutation	SNP	ENST00000356942.5	37	c.407C>T	CCDS14158.1	.	.	.	.	.	.	.	.	.	.	G	30	5.058101	0.93846	.	.	ENSG00000046653	ENST00000316715;ENST00000454189;ENST00000493677;ENST00000355135;ENST00000356942;ENST00000398361;ENST00000495211;ENST00000493085;ENST00000468080	D;D;D;D;D;D;D;D;D	0.99470	-5.96;-5.96;-5.96;-5.96;-5.96;-5.96;-5.96;-5.96;-5.96	5.43	5.43	0.79202	.	0.000000	0.85682	D	0.000000	D	0.99381	0.9782	M	0.75615	2.305	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;0.973;1.0;1.0	D;D;D;P;D;D	0.97110	1.0;0.982;1.0;0.758;1.0;0.999	D	0.99976	1.2197	10	0.12430	T	0.62	-3.5203	18.5412	0.91029	0.0:0.0:1.0:0.0	.	169;136;155;195;147;195	B7Z613;Q13491-2;Q13491;Q13491-3;Q59FD5;Q8N956	.;.;GPM6B_HUMAN;.;.;.	V	195;136;169;195;155;69;120;69;69	ENSP00000316861:A195V;ENSP00000389915:A136V;ENSP00000419904:A169V;ENSP00000347258:A195V;ENSP00000349420:A155V;ENSP00000381402:A69V;ENSP00000419409:A120V;ENSP00000418199:A69V;ENSP00000419779:A69V	ENSP00000316861:A195V	A	-	2	0	GPM6B	13707971	1.000000	0.71417	0.984000	0.44739	0.767000	0.43475	9.360000	0.97119	2.408000	0.81797	0.544000	0.68410	GCG		0.502	GPM6B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055822.1	NM_001001995		3	95	0	0	0	1	0	3	95					A	13798050	G	A	13798050	3	1	184	1	0	0	0	0	1	0	0	0	6616	1087	38	1	503	1	GPM6B	23	13798050	Missense_Mutation	SNP	G	TCGA-G9-7519-01A-11D-2260-08		13798050	141472510	39	8637											
FAM47C	442444	broad.mit.edu	37	chrX	37028425	37028425	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtctccgcccggagcctcccAatactggagtgtcccatctc	6	9	9	17	2	2	0	0	0	2	0	6	2	4	2	5	2	2	0	5	2	2	1	rs145580328		TCGA-G9-7519-01A-11D-2260-08	TCGA-G9-7519-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81dd038c-ba90-481c-90dc-c89b3048fc99	91e00401-e16e-4067-ae4d-28fce0a0425e	g.chrX:37028425A>G	ENST00000358047.3	+	1	1994	c.1942A>G	c.(1942-1944)Aat>Gat	p.N648D		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	648								p.N648D(7)		breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						GGAGCCTCCCAATACTGGAGT	0.642																																						ENST00000358047.3																			7	Substitution - Missense(7)	p.N648D(7)	urinary_tract(2)|prostate(2)|lung(2)|skin(1)	breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						c.(1942-1944)Aat>Gat		family with sequence similarity 47, member C							51	56	55					X																	37028425		2201	4299	6500	SO:0001583	missense	442444							g.chrX:37028425A>G	AK125992	CCDS35227.1	Xp21.1	2006-07-04			ENSG00000198173	ENSG00000198173			25301	protein-coding gene	gene with protein product							Standard	NM_001013736		Approved		uc004ddl.2	Q5HY64	OTTHUMG00000024025	ENST00000358047.3:c.1942A>G	X.37:g.37028425A>G	ENSP00000367913:p.Asn648Asp						p.N648D	NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN			1	1994	+			648					Q6ZU46	Missense_Mutation	SNP	ENST00000358047.3	37	c.1942A>G	CCDS35227.1	.	.	.	.	.	.	.	.	.	.	-	3.343	-0.134139	0.06711	.	.	ENSG00000198173	ENST00000358047	T	0.13196	2.61	1.61	-3.22	0.05125	.	.	.	.	.	T	0.04543	0.0124	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.38993	-0.9635	9	0.20519	T	0.43	.	0.6811	0.00875	0.2356:0.2078:0.3498:0.2069	.	648	Q5HY64	FA47C_HUMAN	D	648	ENSP00000367913:N648D	ENSP00000367913:N648D	N	+	1	0	FAM47C	36938346	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.937000	0.01547	-1.437000	0.01967	-1.178000	0.01721	AAT		0.642	FAM47C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060508.1	NM_001013736		4	78	0	0	0	1	0	4	78					G	37028425	A	G	37028425	3	3	184	1	0	0	0	0	1	0	0	0	5571	130	5	4	1944	4	FAM47C	23	37028425	Missense_Mutation	SNP	A	TCGA-G9-7519-01A-11D-2260-08	23230375	37028425	118242135	40	8638											
FAM120C	54954	broad.mit.edu	37	chrX	54185950	54185950	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtagtaagagggaatattgtAgagagcatactcggagtcat	14	10	13	4	1	1	2	1	0	0	2	2	5	1	4	0	2	2	4	0	2	6	6			TCGA-G9-7519-01A-11D-2260-08	TCGA-G9-7519-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81dd038c-ba90-481c-90dc-c89b3048fc99	91e00401-e16e-4067-ae4d-28fce0a0425e	g.chrX:54185950A>G	ENST00000375180.2	-	2	855	c.799T>C	c.(799-801)Tac>Cac	p.Y267H	FAM120C_ENST00000328235.4_Missense_Mutation_p.Y267H	NM_017848.4	NP_060318.3	Q9NX05	F120C_HUMAN	family with sequence similarity 120C	267							poly(A) RNA binding (GO:0044822)			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						GGAATATTGTAGAGAGCATAC	0.483																																						ENST00000375180.2																			0				breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						c.(799-801)Tac>Cac		family with sequence similarity 120C							119	96	104					X																	54185950		2203	4300	6503	SO:0001583	missense	54954							g.chrX:54185950A>G	AY150025	CCDS14356.1, CCDS55421.1, CCDS75987.1	Xp11.22	2011-04-13	2006-07-04	2006-07-04	ENSG00000184083	ENSG00000184083			16949	protein-coding gene	gene with protein product		300741	"chromosome X open reading frame 17"	CXorf17		14585507	Standard	XM_006724589		Approved	ORF34, FLJ20506	uc004dsz.4	Q9NX05	OTTHUMG00000021625	ENST00000375180.2:c.799T>C	X.37:g.54185950A>G	ENSP00000364324:p.Tyr267His					FAM120C_ENST00000328235.4_Missense_Mutation_p.Y267H	p.Y267H	NM_017848.4	NP_060318.3	Q9NX05	F120C_HUMAN			2	855	-			267					B2RMT7	Missense_Mutation	SNP	ENST00000375180.2	37	c.799T>C	CCDS14356.1	.	.	.	.	.	.	.	.	.	.	A	23.6	4.438204	0.83885	.	.	ENSG00000184083	ENST00000375180;ENST00000328235	T;T	0.43294	0.95;0.95	5.0	5.0	0.66597	.	0.065492	0.64402	D	0.000002	T	0.47801	0.1465	N	0.24115	0.695	0.80722	D	1	D;D	0.64830	0.994;0.994	D;P	0.65443	0.935;0.861	T	0.50030	-0.8875	10	0.54805	T	0.06	-8.8414	12.7441	0.57270	1.0:0.0:0.0:0.0	.	267;267	F8W881;Q9NX05	.;F120C_HUMAN	H	267	ENSP00000364324:Y267H;ENSP00000329896:Y267H	ENSP00000329896:Y267H	Y	-	1	0	FAM120C	54202675	1.000000	0.71417	0.984000	0.44739	0.990000	0.78478	5.989000	0.70587	1.646000	0.50622	0.412000	0.27726	TAC		0.483	FAM120C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056795.2	NM_017848		3	45	0	0	0	1	0	3	45					G	54185950	A	G	54185950	3	3	184	1	0	0	0	0	1	0	0	0	5418	420	15	4	2551	4	FAM120C	23	54185950	Missense_Mutation	SNP	A	TCGA-G9-7519-01A-11D-2260-08	17157525	54185950	101084610	41	8639											
MED12	9968	broad.mit.edu	37	chrX	70349255	70349255	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tggatggagccgtgtttgctGttctcaaggctgtgtttgta	5	16	14	6	1	1	0	1	0	1	0	2	2	1	2	1	3	2	6	1	3	2	4			TCGA-G9-7519-01A-11D-2260-08	TCGA-G9-7519-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81dd038c-ba90-481c-90dc-c89b3048fc99	91e00401-e16e-4067-ae4d-28fce0a0425e	g.chrX:70349255G>C	ENST00000374080.3	+	26	3699	c.3667G>C	c.(3667-3669)Gtt>Ctt	p.V1223L	MED12_ENST00000333646.6_Missense_Mutation_p.V1223L|MED12_ENST00000374102.1_Missense_Mutation_p.V1223L			Q93074	MED12_HUMAN	mediator complex subunit 12	1223					androgen receptor signaling pathway (GO:0030521)|axis elongation involved in somitogenesis (GO:0090245)|canonical Wnt signaling pathway (GO:0060070)|gene expression (GO:0010467)|heart development (GO:0007507)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|negative regulation of Wnt signaling pathway (GO:0030178)|neural tube closure (GO:0001843)|oligodendrocyte development (GO:0014003)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|Schwann cell development (GO:0014044)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein C-terminus binding (GO:0008022)|protein domain specific binding (GO:0019904)|receptor activity (GO:0004872)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II transcription cofactor activity (GO:0001104)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					CGTGTTTGCTGTTCTCAAGGC	0.572			"M, S"		uterine leiomyoma		Opitz-Kaveggia Syndrome				OREG0019857	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000333646.6				Dom	yes		X	Xq13	9968	"M, S"	mediator complex subunit 12	Yes	Opitz-Kaveggia Syndrome	M			uterine leiomyoma		0				breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420						c.(3667-3669)Gtt>Ctt		mediator complex subunit 12							50	52	51					X																	70349255		2088	4191	6279	SO:0001583	missense	9968				androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	g.chrX:70349255G>C	U80742	CCDS43970.1	Xq13	2011-02-14	2007-07-30	2004-11-26	ENSG00000184634	ENSG00000184634			11957	protein-coding gene	gene with protein product		300188	"trinucleotide repeat containing 11 (THR-associated protein, 230kDa subunit)", "mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)", "FG syndrome 1"	TNRC11, FGS1		9225980, 10198638, 17334363, 20507344	Standard	NM_005120		Approved	CAGH45, HOPA, OPA1, TRAP230, KIAA0192, OKS	uc004dyy.3	Q93074	OTTHUMG00000021788	ENST00000374080.3:c.3667G>C	X.37:g.70349255G>C	ENSP00000363193:p.Val1223Leu		OREG0019857	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1121	MED12_ENST00000374102.1_Missense_Mutation_p.V1223L|MED12_ENST00000374080.3_Missense_Mutation_p.V1223L	p.V1223L	NM_005120.2	NP_005111.2	Q93074	MED12_HUMAN			26	3866	+	Renal(35;0.156)		1223					O15410|O75557|Q9UHV6|Q9UND7	Missense_Mutation	SNP	ENST00000374080.3	37	c.3667G>C	CCDS43970.1	.	.	.	.	.	.	.	.	.	.	.	24.7	4.557493	0.86231	.	.	ENSG00000184634	ENST00000333646;ENST00000536756;ENST00000374102;ENST00000374080;ENST00000430072	T;T;T;T	0.33654	1.4;1.4;1.4;1.4	5.09	5.09	0.68999	.	0.000000	0.85682	D	0.000000	T	0.59542	0.2201	M	0.72353	2.195	0.80722	D	1	P;D;P;P	0.53885	0.929;0.963;0.929;0.939	D;P;D;P	0.67231	0.95;0.859;0.95;0.863	T	0.59043	-0.7528	10	0.45353	T	0.12	-14.5208	17.9253	0.88982	0.0:0.0:1.0:0.0	.	1223;1070;1223;1223	F5H3Y1;Q7Z3Z5;Q93074-3;Q93074	.;.;.;MED12_HUMAN	L	1223;1223;1223;1223;1191	ENSP00000333125:V1223L;ENSP00000363215:V1223L;ENSP00000363193:V1223L;ENSP00000414203:V1191L	ENSP00000333125:V1223L	V	+	1	0	MED12	70265980	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.962000	0.93254	2.509000	0.84616	0.529000	0.55759	GTT		0.572	MED12-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000057105.1	NM_005120		13	20	0	0	0	1	0	13	20					C	70349255	G	C	70349255	3	2	184	1	0	0	0	0	1	0	0	0	9428	1377	48	5	3769	5	MED12	23	70349255	Missense_Mutation	SNP	G	TCGA-G9-7519-01A-11D-2260-08	16163305	70349255	84921305	42	8640											
DOCK11	139818	broad.mit.edu	37	chrX	117707777	117707778	+	Frame_Shift_Ins	INS	-	-	T																															ttcattcccaggttgagcccINSttttttatcaatcttgcctt																										TCGA-G9-7519-01A-11D-2260-08	TCGA-G9-7519-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81dd038c-ba90-481c-90dc-c89b3048fc99	91e00401-e16e-4067-ae4d-28fce0a0425e	g.chrX:117707777_117707778insT	ENST00000276202.7	+	12	1248_1249	c.1185_1186insT	c.(1186-1188)tttfs	p.F396fs	DOCK11_ENST00000276204.6_Frame_Shift_Ins_p.F396fs	NM_144658.3	NP_653259.3	Q5JSL3	DOC11_HUMAN	dedicator of cytokinesis 11	396					blood coagulation (GO:0007596)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	84						AGGTTGAGCCCTTTTTTATCAA	0.411																																						ENST00000276204.6																			0				breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	84						c.(1183-1188)ccttttfs		dedicator of cytokinesis 11																																				SO:0001589	frameshift_variant	139818				blood coagulation	cytosol	GTP binding	g.chrX:117707777_117707778insT	AK125641	CCDS35373.1	Xq24	2013-10-25			ENSG00000147251	ENSG00000147251		"Pleckstrin homology (PH) domain containing"	23483	protein-coding gene	gene with protein product	"zizimin2"	300681				12432077, 16968698	Standard	NM_144658		Approved	FLJ32122, FLJ43653, ZIZ2, ACG	uc004eqp.2	Q5JSL3	OTTHUMG00000022256	ENST00000276202.7:c.1191dupT	X.37:g.117707783_117707783dupT	ENSP00000276202:p.Phe396fs					DOCK11_ENST00000276202.7_Frame_Shift_Ins_p.PF395fs	p.PF395fs			Q5JSL3	DOC11_HUMAN			12	1259_1260	+			395					A6NMF0|Q66M66|Q6ZUJ5|Q86VU8|Q96MN3	Frame_Shift_Ins	INS	ENST00000276202.7	37	c.1185_1186insT	CCDS35373.1																																																																																				0.411	DOCK11-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000356002.1	NM_144658		17	90						17	90	---	---	---	---	T	117707778	-	T	117707777	7	5	184	1	0	1	1	0	0	0	0	0	4686	668	24	0	1231	0	DOCK11	23	117707777	Frame_Shift_Ins	INS	-	TCGA-G9-7519-01A-11D-2260-08	47358522	117707777	37562783	43	8641											
MAP7D3	79649	broad.mit.edu	37	chrX	135314292	135314292	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gtattttcattgtcgacatgGgaaacataacagccctcaat	13	12	7	9	1	2	0	2	0	0	0	3	2	2	1	1	1	3	1	1	1	4	5			TCGA-G9-7519-01A-11D-2260-08	TCGA-G9-7519-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81dd038c-ba90-481c-90dc-c89b3048fc99	91e00401-e16e-4067-ae4d-28fce0a0425e	g.chrX:135314292G>T	ENST00000316077.9	-	8	1044	c.824C>A	c.(823-825)cCc>cAc	p.P275H	MAP7D3_ENST00000370663.5_Missense_Mutation_p.P257H|MAP7D3_ENST00000370661.1_Missense_Mutation_p.P240H	NM_024597.3	NP_078873.2	Q8IWC1	MA7D3_HUMAN	MAP7 domain containing 3	275					microtubule cytoskeleton organization (GO:0000226)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|microtubule (GO:0005874)|nucleus (GO:0005634)				central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(2)|prostate(1)|skin(1)	44	Acute lymphoblastic leukemia(192;0.000127)					TGTCGACATGGGAAACATAAC	0.463																																						ENST00000316077.9																			0				central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(2)|prostate(1)|skin(1)	44						c.(823-825)cCc>cAc		MAP7 domain containing 3							173	157	162					X																	135314292		1931	4118	6049	SO:0001583	missense	79649					cytoplasm|spindle		g.chrX:135314292G>T	AL832120	CCDS44004.1, CCDS55508.1, CCDS55509.1	Xq26.3	2014-08-13			ENSG00000129680	ENSG00000129680			25742	protein-coding gene	gene with protein product		300930				24927501	Standard	NM_001173516		Approved	FLJ12649	uc004ezt.3	Q8IWC1	OTTHUMG00000022507	ENST00000316077.9:c.824C>A	X.37:g.135314292G>T	ENSP00000318086:p.Pro275His					MAP7D3_ENST00000370661.1_Missense_Mutation_p.P240H|MAP7D3_ENST00000370663.5_Missense_Mutation_p.P257H	p.P275H	NM_024597.3	NP_078873.2	Q8IWC1	MA7D3_HUMAN			8	1044	-	Acute lymphoblastic leukemia(192;0.000127)		275					A2A2J0|A6NCZ7|A6NHR4|B4DWD2|H7BY77|Q5JXI5|Q5JXI6|Q6P2S1|Q9H9M8	Missense_Mutation	SNP	ENST00000316077.9	37	c.824C>A	CCDS44004.1	.	.	.	.	.	.	.	.	.	.	G	3.643	-0.073125	0.07228	.	.	ENSG00000129680	ENST00000370661;ENST00000316077;ENST00000370663	T;T;T	0.64260	2.17;-0.09;-0.09	5.0	-5.39	0.02664	.	2.351530	0.02512	N	0.091647	T	0.43567	0.1253	L	0.32530	0.975	0.09310	N	1	B;B;B	0.18863	0.031;0.031;0.011	B;B;B	0.15052	0.005;0.005;0.012	T	0.16482	-1.0401	10	0.14656	T	0.56	1.2367	4.0787	0.09916	0.0731:0.3248:0.2735:0.3286	.	257;275;240	B4DWD2;Q8IWC1;Q8IWC1-3	.;MA7D3_HUMAN;.	H	240;275;257	ENSP00000359695:P240H;ENSP00000318086:P275H;ENSP00000359697:P257H	ENSP00000318086:P275H	P	-	2	0	MAP7D3	135141958	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.281000	0.02802	-1.399000	0.02063	-0.279000	0.10071	CCC		0.463	MAP7D3-001	PUTATIVE	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058487.2			3	109	1	0	0.115264	1	0.115264	3	109					T	135314292	G	T	135314292	3	4	184	1	0	0	0	0	1	0	0	0	9269	1232	43	5	1850	5	MAP7D3	23	135314292	Missense_Mutation	SNP	G	TCGA-G9-7519-01A-11D-2260-08	17606515	135314292	19956268	44	8642											
PDPN	10630	broad.mit.edu	37	chr1	13940850	13940850	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gttggggtcttactagccatCggcttcattggtgcaatcat	7	14	11	9	1	3	0	2	0	1	0	4	0	3	0	1	4	3	3	1	4	3	5			TCGA-G9-7521-01A-11D-2260-08	TCGA-G9-7521-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74e478ae-4fd2-454f-a0d1-0d2d37527fb8	02ec6811-5ee2-4ebc-9a00-dc60ca0e4bbd	g.chr1:13940850C>T	ENST00000509009.1	+	5	455	c.411C>T	c.(409-411)atC>atT	p.I137I	PDPN_ENST00000513143.1_Silent_p.I100I|PDPN_ENST00000487038.1_Silent_p.I100I|PDPN_ENST00000376057.4_Silent_p.I218I|PDPN_ENST00000294489.6_Silent_p.I218I|PDPN_ENST00000475043.1_Silent_p.I100I|PDPN_ENST00000376061.4_Silent_p.I100I					podoplanin											endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	16	Ovarian(185;0.249)	all_lung(284;2.29e-05)|Lung NSC(185;4.37e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00969)|Colorectal(212;4.48e-06)|COAD - Colon adenocarcinoma(227;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000347)|Kidney(185;0.00087)|KIRC - Kidney renal clear cell carcinoma(229;0.0027)|STAD - Stomach adenocarcinoma(313;0.00802)|READ - Rectum adenocarcinoma(331;0.0678)		TACTAGCCATCGGCTTCATTG	0.433																																						ENST00000294489.6																			0				endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	16						c.(652-654)atC>atT		podoplanin							188	177	181					1																	13940850		2203	4300	6503	SO:0001819	synonymous_variant	10630				cell morphogenesis|lymphangiogenesis|regulation of cell shape	filopodium membrane|integral to plasma membrane|lamellipodium membrane|microvillus membrane|ruffle membrane		g.chr1:13940850C>T	AB127958, AY194238	CCDS30602.1, CCDS41266.1, CCDS44060.1, CCDS53270.1	1p36.21	2008-02-05			ENSG00000162493	ENSG00000162493			29602	protein-coding gene	gene with protein product	"lung type I cell membrane associated glycoprotein"	608863				10393083, 9651190	Standard	NM_006474		Approved	T1A-2, Gp38, aggrus, GP40, PA2.26	uc001avd.3	Q86YL7	OTTHUMG00000007912	ENST00000509009.1:c.411C>T	1.37:g.13940850C>T						PDPN_ENST00000487038.1_Silent_p.I100I|PDPN_ENST00000376061.4_Silent_p.I100I|PDPN_ENST00000513143.1_Silent_p.I100I|PDPN_ENST00000376057.4_Silent_p.I218I|PDPN_ENST00000509009.1_Silent_p.I137I|PDPN_ENST00000475043.1_Silent_p.I100I	p.I218I			Q86YL7	PDPN_HUMAN	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00969)|Colorectal(212;4.48e-06)|COAD - Colon adenocarcinoma(227;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000347)|Kidney(185;0.00087)|KIRC - Kidney renal clear cell carcinoma(229;0.0027)|STAD - Stomach adenocarcinoma(313;0.00802)|READ - Rectum adenocarcinoma(331;0.0678)	5	995	+	Ovarian(185;0.249)	all_lung(284;2.29e-05)|Lung NSC(185;4.37e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	142						Silent	SNP	ENST00000509009.1	37	c.654C>T																																																																																					0.433	PDPN-009	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000367736.1	NM_006474		34	68	0	0	0	1	0	34	68					T	13940850	C	T	13940850	2	4	185	1	0	0	0	0	0	0	0	1	11688	874	31	2		2	PDPN	1	13940850	Silent	SNP	C	TCGA-G9-7521-01A-11D-2260-08		13940850	235309771	1	8643											
DNALI1	79753	broad.mit.edu	37	chr1	38022567	38022567	+	5'Flank	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggcccacactggacagggcaGctgctgggttgctactctcg	6	8	14	13	1	1	0	0	0	1	0	2	1	1	1	1	4	4	5	1	4	1	2			TCGA-G9-7521-01A-11D-2260-08	TCGA-G9-7521-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74e478ae-4fd2-454f-a0d1-0d2d37527fb8	02ec6811-5ee2-4ebc-9a00-dc60ca0e4bbd	g.chr1:38022567G>A	ENST00000296215.6	-	0	0				DNALI1_ENST00000296218.7_Missense_Mutation_p.S13N|SNIP1_ENST00000468040.1_5'Flank|DNALI1_ENST00000541606.1_5'Flank	NM_024700.3	NP_078976.2	Q8TAD8	SNIP1_HUMAN	Smad nuclear interacting protein 1						I-kappaB kinase/NF-kappaB signaling (GO:0007249)|production of miRNAs involved in gene silencing by miRNA (GO:0035196)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(2)|cervix(2)|endometrium(1)|large_intestine(3)|lung(15)|ovary(1)|upper_aerodigestive_tract(1)	25		Myeloproliferative disorder(586;0.0393)				GGACAGGGCAGCTGCTGGGTT	0.647																																						ENST00000296218.7																			0				breast(1)|kidney(1)|large_intestine(2)|ovary(1)	5						c.(37-39)aGc>aAc		dynein, axonemal, light intermediate chain 1							64	58	60					1																	38022567		2203	4300	6503	SO:0001631	upstream_gene_variant	7802				cellular component movement|single fertilization	axonemal dynein complex	microtubule motor activity	g.chr1:38022567G>A		CCDS419.1	1p34.3	2010-07-06			ENSG00000163877	ENSG00000163877			30587	protein-coding gene	gene with protein product		608241				10887155, 15378006	Standard	NM_024700		Approved		uc001cbi.4	Q8TAD8	OTTHUMG00000004225		1.37:g.38022567G>A	Exception_encountered						p.S13N	NM_003462.3	NP_003453.2	O14645	IDLC_HUMAN			1	48	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)	0					Q96SP9|Q9H9T7	Missense_Mutation	SNP	ENST00000296215.6	37	c.38G>A	CCDS419.1	.	.	.	.	.	.	.	.	.	.	G	12.58	1.981754	0.34942	.	.	ENSG00000163879	ENST00000296218	T	0.47528	0.84	4.12	-0.202	0.13208	.	2.094940	0.02659	N	0.107308	T	0.31040	0.0784	.	.	.	0.09310	N	0.999992	.	.	.	.	.	.	T	0.10613	-1.0622	7	0.25106	T	0.35	4.0609	3.8504	0.08953	0.3214:0.0:0.5123:0.1664	.	.	.	.	N	13	ENSP00000296218:S13N	ENSP00000296218:S13N	S	+	2	0	DNALI1	37795154	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.275000	0.08525	-0.012000	0.14223	0.491000	0.48974	AGC		0.647	SNIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012169.2	NM_024700		3	102	0	0	0	1	0	3	102					A	38022567	G	A	38022567	1	1	185	0	1	0	0	0	0	0	0	0	4659	971	34	3		3	DNALI1	1	38022567	5'Flank	SNP	G	TCGA-G9-7521-01A-11D-2260-08	24081717	38022567	211228054	2	8644											
QSOX1	5768	broad.mit.edu	37	chr1	180165946	180165946	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggaggtcaggcgcgtgggccGcagctccaagcagctggtcg	6	5	18	12	4	1	0	1	0	0	0	3	1	2	1	2	5	3	4	2	5	1	0	rs144062716		TCGA-G9-7521-01A-11D-2260-08	TCGA-G9-7521-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74e478ae-4fd2-454f-a0d1-0d2d37527fb8	02ec6811-5ee2-4ebc-9a00-dc60ca0e4bbd	g.chr1:180165946G>A	ENST00000367602.3	+	12	2092	c.2018G>A	c.(2017-2019)cGc>cAc	p.R673H	QSOX1_ENST00000367600.5_Intron			O00391	QSOX1_HUMAN	quiescin Q6 sulfhydryl oxidase 1	673					cell redox homeostasis (GO:0045454)|protein folding (GO:0006457)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of Golgi membrane (GO:0030173)	flavin-linked sulfhydryl oxidase activity (GO:0016971)|protein disulfide isomerase activity (GO:0003756)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31						CGCGTGGGCCGCAGCTCCAAG	0.677																																						ENST00000367602.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31						c.(2017-2019)cGc>cAc		quiescin Q6 sulfhydryl oxidase 1		G	,HIS/ARG	1,4403	2.1+/-5.4	0,1,2201	37	48	44		,2018	2.6	1	1	dbSNP_134	44	1,8595	1.2+/-3.3	0,1,4297	no	intron,missense	QSOX1	NM_001004128.2,NM_002826.4	,29	0,2,6498	AA,AG,GG		0.0116,0.0227,0.0154	,benign	,673/748	180165946	2,12998	2202	4298	6500	SO:0001583	missense	5768				cell redox homeostasis|protein thiol-disulfide exchange	extracellular space|integral to Golgi membrane	flavin-linked sulfhydryl oxidase activity	g.chr1:180165946G>A	U97276	CCDS1337.1, CCDS30950.1	1q24	2008-02-05	2007-04-23	2007-04-23	ENSG00000116260	ENSG00000116260			9756	protein-coding gene	gene with protein product		603120	"quiescin Q6"	QSCN6		9878249, 8396966	Standard	NM_002826		Approved		uc001gnz.3	O00391	OTTHUMG00000035256	ENST00000367602.3:c.2018G>A	1.37:g.180165946G>A	ENSP00000356574:p.Arg673His					QSOX1_ENST00000367600.5_Intron	p.R673H			O00391	QSOX1_HUMAN			12	2092	+			673					Q59G29|Q5T2X0|Q8TDL6|Q8WVP4	Missense_Mutation	SNP	ENST00000367602.3	37	c.2018G>A	CCDS1337.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	9.937|9.937	1.216397|1.216397	0.22373|0.22373	2.27E-4|2.27E-4	1.16E-4|1.16E-4	ENSG00000116260|ENSG00000116260	ENST00000443059|ENST00000367602	.|T	.|0.04917	.|3.53	4.56|4.56	2.6|2.6	0.31112|0.31112	.|.	.|1.159230	.|0.06159	.|N	.|0.675565	T|T	0.05777|0.05777	0.0151|0.0151	L|L	0.38175|0.38175	1.15|1.15	0.32244|0.32244	N|N	0.572378|0.572378	.|B	.|0.26445	.|0.149	.|B	.|0.15052	.|0.012	T|T	0.32877|0.32877	-0.9890|-0.9890	5|10	.|0.19590	.|T	.|0.45	-12.0024|-12.0024	6.8416|6.8416	0.23965|0.23965	0.2183:0.0:0.7817:0.0|0.2183:0.0:0.7817:0.0	.|.	.|673	.|O00391	.|QSOX1_HUMAN	T|H	44|673	.|ENSP00000356574:R673H	.|ENSP00000356574:R673H	A|R	+|+	1|2	0|0	QSOX1|QSOX1	178432569|178432569	0.003000|0.003000	0.15002|0.15002	0.952000|0.952000	0.39060|0.39060	0.195000|0.195000	0.23768|0.23768	0.537000|0.537000	0.23144|0.23144	0.998000|0.998000	0.38996|0.38996	0.400000|0.400000	0.26472|0.26472	GCA|CGC		0.677	QSOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085289.1	NM_002826		3	69	0	0	0	1	0	3	69					A	180165946	G	A	180165946	3	1	185	1	0	0	0	0	1	0	0	0	12883	1087	38	1	2064	1	QSOX1	1	180165946	Missense_Mutation	SNP	G	TCGA-G9-7521-01A-11D-2260-08	142143379	180165946	69084675	3	8645											
MFSD6	54842	broad.mit.edu	37	chr2	191354580	191354580	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tccagtggctggcagtgccaGatgaggaagaaggtaattat	12	9	14	6	0	0	3	0	1	0	2	1	4	1	4	2	4	1	3	2	4	4	2			TCGA-G9-7521-01A-11D-2260-08	TCGA-G9-7521-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74e478ae-4fd2-454f-a0d1-0d2d37527fb8	02ec6811-5ee2-4ebc-9a00-dc60ca0e4bbd	g.chr2:191354580G>C	ENST00000392328.1	+	6	2203	c.1879G>C	c.(1879-1881)Gat>Cat	p.D627H	MFSD6_ENST00000535751.1_Missense_Mutation_p.D89H|MFSD6_ENST00000281416.7_Missense_Mutation_p.D627H	NM_017694.3	NP_060164.3	Q6ZSS7	MFSD6_HUMAN	major facilitator superfamily domain containing 6	627					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(3)|stomach(1)	23						GGCAGTGCCAGATGAGGAAGA	0.478																																						ENST00000392328.1																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(3)|stomach(1)	23						c.(1879-1881)Gat>Cat		major facilitator superfamily domain containing 6							78	70	73					2																	191354580		2203	4300	6503	SO:0001583	missense	54842				transmembrane transport	integral to membrane		g.chr2:191354580G>C		CCDS2306.1	2q32.2	2008-10-29			ENSG00000151690	ENSG00000151690			24711	protein-coding gene	gene with protein product		613476					Standard	NM_017694		Approved	FLJ20160	uc002urz.2	Q6ZSS7	OTTHUMG00000132671	ENST00000392328.1:c.1879G>C	2.37:g.191354580G>C	ENSP00000376141:p.Asp627His					MFSD6_ENST00000535751.1_Missense_Mutation_p.D89H|MFSD6_ENST00000281416.7_Missense_Mutation_p.D627H	p.D627H	NM_017694.3	NP_060164.3	Q6ZSS7	MFSD6_HUMAN			6	2203	+			627					D3KSZ4|Q86TH2|Q9NXM3	Missense_Mutation	SNP	ENST00000392328.1	37	c.1879G>C	CCDS2306.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.05|16.05	3.011588|3.011588	0.54468|0.54468	.|.	.|.	ENSG00000151690|ENSG00000151690	ENST00000392328;ENST00000281416;ENST00000444317;ENST00000542423;ENST00000535751|ENST00000434582	T;T;T;T|.	0.80909|.	-1.43;-1.43;-1.43;-1.43|.	5.35|5.35	4.46|4.46	0.54185|0.54185	Major facilitator superfamily domain, general substrate transporter (1);|.	0.688708|.	0.16393|.	N|.	0.216370|.	T|T	0.33990|0.33990	0.0882|0.0882	N|N	0.19112|0.19112	0.55|0.55	0.26162|0.26162	N|N	0.98|0.98	B|.	0.15473|.	0.013|.	B|.	0.17979|.	0.02|.	T|T	0.21245|0.21245	-1.0251|-1.0251	10|5	0.46703|.	T|.	0.11|.	-2.9575|-2.9575	14.0888|14.0888	0.64975|0.64975	0.0:0.3059:0.6941:0.0|0.0:0.3059:0.6941:0.0	.|.	627|.	Q6ZSS7|.	MFSD6_HUMAN|.	H|T	627;627;89;89;89|162	ENSP00000376141:D627H;ENSP00000281416:D627H;ENSP00000406837:D89H;ENSP00000440917:D89H|.	ENSP00000281416:D627H|.	D|R	+|+	1|2	0|0	MFSD6|MFSD6	191062825|191062825	0.309000|0.309000	0.24518|0.24518	0.984000|0.984000	0.44739|0.44739	0.990000|0.990000	0.78478|0.78478	2.619000|2.619000	0.46401|0.46401	1.612000|1.612000	0.50221|0.50221	0.655000|0.655000	0.94253|0.94253	GAT|AGA		0.478	MFSD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255931.1			3	55	0	0	0	1	0	3	55					C	191354580	G	C	191354580	3	2	185	1	0	0	0	0	1	0	0	0	9535	942	33	5	1893	5	MFSD6	2	191354580	Missense_Mutation	SNP	G	TCGA-G9-7521-01A-11D-2260-08		191354580	51844793	4	8646											
COL4A3	1285	broad.mit.edu	37	chr2	228159772	228159772	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtccagccggagaaaagggaGaaacgggtacaacttgctca	14	5	13	9	2	1	2	1	0	0	2	2	4	2	2	2	3	5	2	2	3	5	2			TCGA-G9-7521-01A-11D-2260-08	TCGA-G9-7521-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74e478ae-4fd2-454f-a0d1-0d2d37527fb8	02ec6811-5ee2-4ebc-9a00-dc60ca0e4bbd	g.chr2:228159772G>A	ENST00000396578.3	+	40	3673	c.3511G>A	c.(3511-3513)Gaa>Aaa	p.E1171K	AC097662.2_ENST00000439598.2_RNA|AC097662.2_ENST00000396588.2_RNA|AC097662.2_ENST00000433324.1_RNA	NM_000091.4	NP_000082.2	Q01955	CO4A3_HUMAN	collagen, type IV, alpha 3 (Goodpasture antigen)	1171	Triple-helical region.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|axon guidance (GO:0007411)|blood circulation (GO:0008015)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|collagen catabolic process (GO:0030574)|endothelial cell apoptotic process (GO:0072577)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glomerular basement membrane development (GO:0032836)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell proliferation (GO:0008285)|negative regulation of endopeptidase activity (GO:0010951)|sensory perception of sound (GO:0007605)	basement membrane (GO:0005604)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)|integrin binding (GO:0005178)|metalloendopeptidase inhibitor activity (GO:0008191)|structural molecule activity (GO:0005198)			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247)		Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187)		AGAAAAGGGAGAAACGGGTAC	0.418																																						ENST00000396578.3																			0				NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	55						c.(3511-3513)Gaa>Aaa		collagen, type IV, alpha 3 (Goodpasture antigen)							114	118	117					2																	228159772		1857	4099	5956	SO:0001583	missense	1285				activation of caspase activity|axon guidance|blood circulation|cell adhesion|cell proliferation|cell surface receptor linked signaling pathway|glomerular basement membrane development|induction of apoptosis|negative regulation of angiogenesis|negative regulation of cell proliferation|sensory perception of sound	collagen type IV	extracellular matrix structural constituent|integrin binding|metalloendopeptidase inhibitor activity	g.chr2:228159772G>A		CCDS42829.1	2q36-q37	2014-09-17			ENSG00000169031	ENSG00000169031		"Collagens"	2204	protein-coding gene	gene with protein product	"tumstatin"	120070				1737849	Standard	NM_000091		Approved		uc002vom.2	Q01955	OTTHUMG00000149891	ENST00000396578.3:c.3511G>A	2.37:g.228159772G>A	ENSP00000379823:p.Glu1171Lys					AC097662.2_ENST00000439598.2_RNA|AC097662.2_ENST00000396588.2_RNA|AC097662.2_ENST00000433324.1_RNA	p.E1171K	NM_000091.4	NP_000082.2	Q01955	CO4A3_HUMAN		Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187)	40	3673	+		all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247)	1171			Triple-helical region.		Q53QQ1|Q53R14|Q53RW8|Q9BQT2|Q9NYC4|Q9UDJ9|Q9UDK9|Q9UDL0|Q9UDL1	Missense_Mutation	SNP	ENST00000396578.3	37	c.3511G>A	CCDS42829.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.244546	0.79912	.	.	ENSG00000169031	ENST00000396578;ENST00000328380;ENST00000335583;ENST00000396574;ENST00000315699	D	0.94184	-3.37	5.79	5.79	0.91817	.	0.000000	0.64402	D	0.000008	D	0.94424	0.8206	L	0.43757	1.38	0.49130	D	0.999754	D;D;D;D	0.76494	0.999;0.999;0.999;0.999	D;D;D;D	0.87578	0.996;0.996;0.996;0.998	D	0.90954	0.4807	10	0.09084	T	0.74	.	16.957	0.86262	0.0:0.0:1.0:0.0	.	1171;1171;1171;1171	Q01955-5;Q01955-4;Q01955-2;Q01955	.;.;.;CO4A3_HUMAN	K	1171	ENSP00000379823:E1171K	ENSP00000323334:E1171K	E	+	1	0	COL4A3	227868016	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	5.924000	0.70054	2.750000	0.94351	0.563000	0.77884	GAA		0.418	COL4A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331409.2	NM_000091		3	64	0	0	0	1	0	3	64					A	228159772	G	A	228159772	3	1	185	1	0	0	0	0	1	0	0	0	3691	943	33	3	3669	3	COL4A3	2	228159772	Missense_Mutation	SNP	G	TCGA-G9-7521-01A-11D-2260-08	36805192	228159772	15039601	5	8647											
DNAH1	25981	broad.mit.edu	37	chr3	52412685	52412685	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	accatcatggtgtatgcaacCatcacctcccagctgctgcc	9	9	7	16	0	2	0	2	0	0	0	3	0	3	0	5	1	5	4	5	1	2	1			TCGA-G9-7521-01A-11D-2260-08	TCGA-G9-7521-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74e478ae-4fd2-454f-a0d1-0d2d37527fb8	02ec6811-5ee2-4ebc-9a00-dc60ca0e4bbd	g.chr3:52412685C>A	ENST00000420323.2	+	47	7527	c.7266C>A	c.(7264-7266)acC>acA	p.T2422T		NM_015512.4	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	2422	AAA 3. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|response to mechanical stimulus (GO:0009612)	axonemal dynein complex (GO:0005858)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		TGTATGCAACCATCACCTCCC	0.602																																						ENST00000420323.2																			0				cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62						c.(7264-7266)acC>acA		dynein, axonemal, heavy chain 1							115	129	124					3																	52412685		2145	4263	6408	SO:0001819	synonymous_variant	25981				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr3:52412685C>A	U61738	CCDS46842.1	3p21-p14	2008-02-05	2006-09-04		ENSG00000114841	ENSG00000114841		"Axonemal dyneins"	2940	protein-coding gene	gene with protein product		603332	"dynein, axonemal, heavy polypeptide 1"			8812413, 9256245	Standard	NM_015512		Approved	XLHSRF-1, DNAHC1, HDHC7, HL-11, HL11	uc011bef.2	Q9P2D7	OTTHUMG00000158378	ENST00000420323.2:c.7266C>A	3.37:g.52412685C>A							p.T2422T	NM_015512.4	NP_056327.4	Q9P2D7	DYH1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	47	7527	+			2422			AAA 3 (By similarity).		B0I1R6|O00436|O15435|O95491|Q6ZU48|Q86YK7|Q8TEJ4|Q92863|Q9H8E6|Q9UFW6|Q9Y4Z7	Silent	SNP	ENST00000420323.2	37	c.7266C>A	CCDS46842.1																																																																																				0.602	DNAH1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350816.1	NM_015512		74	194	1	0	2.28164e-27	1	2.58299e-27	74	194					A	52412685	C	A	52412685	2	1	185	1	0	0	0	0	0	0	0	1	4597	581	21	5		5	DNAH1	3	52412685	Silent	SNP	C	TCGA-G9-7521-01A-11D-2260-08		52412685	145609745	6	8648											
VGLL3	389136	broad.mit.edu	37	chr3	87027942	87027942	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cctgcatcttgctgaataccGctaacttcttctgggatgga	8	13	9	11	1	3	1	0	1	3	0	3	3	3	3	2	2	4	3	2	2	3	5			TCGA-G9-7521-01A-11D-2260-08	TCGA-G9-7521-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74e478ae-4fd2-454f-a0d1-0d2d37527fb8	02ec6811-5ee2-4ebc-9a00-dc60ca0e4bbd	g.chr3:87027942G>A	ENST00000398399.2	-	2	500	c.137C>T	c.(136-138)gCg>gTg	p.A46V	VGLL3_ENST00000383698.3_Missense_Mutation_p.A46V	NM_016206.2	NP_057290.2			vestigial-like family member 3											NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(11)	19	all_cancers(8;0.109)|Lung SC(3;0.184)	Lung NSC(201;0.0777)		LUSC - Lung squamous cell carcinoma(29;0.00241)|Lung(72;0.00712)		GCTGAATACCGCTAACTTCTT	0.428																																						ENST00000398399.2																			0				NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(11)	19						c.(136-138)gCg>gTg		vestigial like 3 (Drosophila)							57	54	55					3																	87027942		1942	4165	6107	SO:0001583	missense	389136				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chr3:87027942G>A	AF099505	CCDS43110.1	3p12.1	2014-03-03	2014-03-03		ENSG00000206538	ENSG00000206538			24327	protein-coding gene	gene with protein product		609980	"vestigial like 3 (Drosophila)"			12376544	Standard	NM_016206		Approved	VGL-3	uc003dqn.3	A8MV65	OTTHUMG00000158984	ENST00000398399.2:c.137C>T	3.37:g.87027942G>A	ENSP00000381436:p.Ala46Val					VGLL3_ENST00000383698.3_Missense_Mutation_p.A46V	p.A46V	NM_016206.2	NP_057290.2	A8MV65	VGLL3_HUMAN		LUSC - Lung squamous cell carcinoma(29;0.00241)|Lung(72;0.00712)	2	500	-	all_cancers(8;0.109)|Lung SC(3;0.184)	Lung NSC(201;0.0777)	46						Missense_Mutation	SNP	ENST00000398399.2	37	c.137C>T	CCDS43110.1	.	.	.	.	.	.	.	.	.	.	G	14.22	2.471695	0.43942	.	.	ENSG00000206538	ENST00000398399;ENST00000383698	T;T	0.55234	0.57;0.53	5.14	5.14	0.70334	.	0.353082	0.30193	N	0.010196	T	0.35653	0.0939	L	0.32530	0.975	0.34741	D	0.730782	P	0.49961	0.93	B	0.30943	0.122	T	0.58521	-0.7622	10	0.66056	D	0.02	-7.3039	12.9789	0.58552	0.0777:0.0:0.9223:0.0	.	46	A8MV65	VGLL3_HUMAN	V	46	ENSP00000381436:A46V;ENSP00000373199:A46V	ENSP00000373199:A46V	A	-	2	0	VGLL3	87110632	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	1.733000	0.38156	2.391000	0.81399	0.655000	0.94253	GCG		0.428	VGLL3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000352805.1	NM_016206		3	76	0	0	0	1	0	3	76					A	87027942	G	A	87027942	3	1	185	1	0	0	0	0	1	0	0	0	17157	1087	38	1	855	1	VGLL3	3	87027942	Missense_Mutation	SNP	G	TCGA-G9-7521-01A-11D-2260-08	34615257	87027942	110994488	7	8649											
CKMT2	1160	broad.mit.edu	37	chr5	80559388	80559388	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtgtggacactgccgcggtcGcagatgtgtacgacatttcc	7	10	13	11	4	0	1	0	0	0	1	2	3	1	2	2	2	2	2	2	2	1	2	rs200838735	byFrequency	TCGA-G9-7521-01A-11D-2260-08	TCGA-G9-7521-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74e478ae-4fd2-454f-a0d1-0d2d37527fb8	02ec6811-5ee2-4ebc-9a00-dc60ca0e4bbd	g.chr5:80559388G>A	ENST00000424301.2	+	10	1331	c.1093G>A	c.(1093-1095)Gca>Aca	p.A365T	CKMT2-AS1_ENST00000511495.1_RNA|CKMT2-AS1_ENST00000503483.2_RNA|CKMT2_ENST00000254035.4_Missense_Mutation_p.A365T|CKMT2-AS1_ENST00000500148.2_RNA|CKMT2-AS1_ENST00000505295.1_RNA|CKMT2-AS1_ENST00000501927.2_RNA|CKMT2_ENST00000437669.1_Missense_Mutation_p.A365T|CKMT2-AS1_ENST00000512287.1_RNA|CKMT2-AS1_ENST00000502041.2_RNA	NM_001825.2	NP_001816.2	P17540	KCRS_HUMAN	creatine kinase, mitochondrial 2 (sarcomeric)	365	Phosphagen kinase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00843}.				cellular nitrogen compound metabolic process (GO:0034641)|creatine metabolic process (GO:0006600)|muscle contraction (GO:0006936)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|creatine kinase activity (GO:0004111)			breast(2)|cervix(1)|endometrium(2)|large_intestine(7)|lung(4)|urinary_tract(1)	17		Lung NSC(167;0.00475)|all_lung(232;0.00502)|Ovarian(174;0.0336)		OV - Ovarian serous cystadenocarcinoma(54;2.29e-44)|Epithelial(54;1.05e-38)|all cancers(79;4.15e-34)	Creatine(DB00148)	TGCCGCGGTCGCAGATGTGTA	0.463													G|||	2	0.000399361	0	0	5008	,	,		12532	0		0.002	False		,,,				2504	0					ENST00000424301.2																			0				breast(2)|cervix(1)|endometrium(2)|large_intestine(7)|lung(4)|urinary_tract(1)	17						c.(1093-1095)Gca>Aca		creatine kinase, mitochondrial 2 (sarcomeric)	Creatine(DB00148)						120	113	115					5																	80559388		2203	4300	6503	SO:0001583	missense	1160				creatine metabolic process|muscle contraction	mitochondrial inner membrane	ATP binding|creatine kinase activity	g.chr5:80559388G>A		CCDS4053.1	5q14.1	2013-09-20			ENSG00000131730	ENSG00000131730	2.7.3.2		1996	protein-coding gene	gene with protein product		123295				2324105	Standard	NM_001825		Approved	SMTCK	uc003khd.4	P17540	OTTHUMG00000119013	ENST00000424301.2:c.1093G>A	5.37:g.80559388G>A	ENSP00000404203:p.Ala365Thr					CKMT2_ENST00000254035.4_Missense_Mutation_p.A365T|CTC-281B15.1_ENST00000511495.1_RNA|CTC-281B15.1_ENST00000503483.2_RNA|CTC-281B15.1_ENST00000501927.2_RNA|CTC-281B15.1_ENST00000502041.2_RNA|CTC-281B15.1_ENST00000500148.2_RNA|CTC-281B15.1_ENST00000512287.1_RNA|CKMT2_ENST00000437669.1_Missense_Mutation_p.A365T|CTC-281B15.1_ENST00000505295.1_RNA	p.A365T	NM_001825.2	NP_001816.2	P17540	KCRS_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;2.29e-44)|Epithelial(54;1.05e-38)|all cancers(79;4.15e-34)	10	1331	+		Lung NSC(167;0.00475)|all_lung(232;0.00502)|Ovarian(174;0.0336)	365			Phosphagen kinase C-terminal.		Q6ICS8|Q8N1E1	Missense_Mutation	SNP	ENST00000424301.2	37	c.1093G>A	CCDS4053.1	2	9.157509157509158E-4	0	0.0	0	0.0	0	0.0	2	0.002638522427440633	G	20.6	4.015148	0.75161	.	.	ENSG00000131730	ENST00000254035;ENST00000437669;ENST00000424301	T;T;T	0.11277	2.79;2.79;2.79	5.76	5.76	0.90799	ATP:guanido phosphotransferase, catalytic domain (2);Glutamine synthetase/guanido kinase, catalytic domain (1);	0.052228	0.85682	D	0.000000	T	0.06781	0.0173	N	0.03608	-0.345	0.58432	D	0.999999	B	0.30281	0.275	B	0.24155	0.051	T	0.42310	-0.9459	10	0.87932	D	0	-18.7922	19.9625	0.97256	0.0:0.0:1.0:0.0	.	365	P17540	KCRS_HUMAN	T	365	ENSP00000254035:A365T;ENSP00000410289:A365T;ENSP00000404203:A365T	ENSP00000254035:A365T	A	+	1	0	CKMT2	80595144	1.000000	0.71417	0.988000	0.46212	0.445000	0.32107	9.869000	0.99810	2.726000	0.93360	0.655000	0.94253	GCA		0.463	CKMT2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369600.1	NM_001825		3	109	0	0	0	1	0	3	109					A	80559388	G	A	80559388	3	1	185	1	0	0	0	0	1	0	0	0	3451	1087	38	1	1123	1	CKMT2	5	80559388	Missense_Mutation	SNP	G	TCGA-G9-7521-01A-11D-2260-08		80559388	100355872	8	8650											
HNRNPA0	10949	broad.mit.edu	37	chr5	137089391	137089391	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tctcggccttttccacggtgCcaaactgcgagaagtgctcg	7	10	11	13	4	1	1	0	0	1	1	4	2	2	1	3	2	4	1	3	2	2	2			TCGA-G9-7521-01A-11D-2260-08	TCGA-G9-7521-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74e478ae-4fd2-454f-a0d1-0d2d37527fb8	02ec6811-5ee2-4ebc-9a00-dc60ca0e4bbd	g.chr5:137089391C>A	ENST00000314940.4	-	1	648	c.365G>T	c.(364-366)gGc>gTc	p.G122V		NM_006805.3	NP_006796.1	Q13151	ROA0_HUMAN	heterogeneous nuclear ribonucleoprotein A0	122	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				3'-UTR-mediated mRNA stabilization (GO:0070935)|gene expression (GO:0010467)|inflammatory response (GO:0006954)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|response to lipopolysaccharide (GO:0032496)|RNA splicing (GO:0008380)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	AU-rich element binding (GO:0017091)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|RNA binding (GO:0003723)			large_intestine(1)|lung(2)|skin(1)	4			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			TTCCACGGTGCCAAACTGCGA	0.587																																						ENST00000314940.4																			0				large_intestine(1)|lung(2)|skin(1)	4						c.(364-366)gGc>gTc		heterogeneous nuclear ribonucleoprotein A0							75	74	75					5																	137089391		2203	4300	6503	SO:0001583	missense	10949				nuclear mRNA splicing, via spliceosome	heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|RNA binding	g.chr5:137089391C>A	U23803	CCDS4193.1	5q31	2013-02-12		2007-08-16	ENSG00000177733	ENSG00000177733		"RNA binding motif (RRM) containing"	5030	protein-coding gene	gene with protein product		609409		HNRPA0		7585247	Standard	NM_006805		Approved	hnRNPA0	uc003lbt.3	Q13151	OTTHUMG00000129156	ENST00000314940.4:c.365G>T	5.37:g.137089391C>A	ENSP00000316042:p.Gly122Val						p.G122V	NM_006805.3	NP_006796.1	Q13151	ROA0_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)		1	648	-			122			RRM 2.		Q6IB18	Missense_Mutation	SNP	ENST00000314940.4	37	c.365G>T	CCDS4193.1	.	.	.	.	.	.	.	.	.	.	C	26.8	4.774578	0.90108	.	.	ENSG00000177733	ENST00000314940	T	0.47177	0.85	4.97	4.97	0.65823	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	U	0.000000	T	0.79534	0.4462	H	0.96175	3.78	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.86928	0.2071	10	0.87932	D	0	.	18.2349	0.89946	0.0:1.0:0.0:0.0	.	122	Q13151	ROA0_HUMAN	V	122	ENSP00000316042:G122V	ENSP00000316042:G122V	G	-	2	0	HNRNPA0	137117290	1.000000	0.71417	0.751000	0.31187	0.885000	0.51271	6.004000	0.70709	2.303000	0.77524	0.305000	0.20034	GGC		0.587	HNRNPA0-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251221.1	NM_006805		3	82	1	0	0.184627	1	0.184627	3	82					A	137089391	C	A	137089391	3	1	185	1	0	0	0	0	1	0	0	0	7256	739	26	5	556	5	HNRNPA0	5	137089391	Missense_Mutation	SNP	C	TCGA-G9-7521-01A-11D-2260-08	56530003	137089391	43825869	9	8651											
FAT2	2196	broad.mit.edu	37	chr5	150947501	150947501	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cactcctggcctggaggctgAggttgaacccatgaaggtac	9	8	13	11	0	0	3	0	3	0	0	1	4	1	4	3	5	2	3	3	5	3	2			TCGA-G9-7521-01A-11D-2260-08	TCGA-G9-7521-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74e478ae-4fd2-454f-a0d1-0d2d37527fb8	02ec6811-5ee2-4ebc-9a00-dc60ca0e4bbd	g.chr5:150947501A>C	ENST00000261800.5	-	1	1004	c.992T>G	c.(991-993)cTc>cGc	p.L331R		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	331					epithelial cell migration (GO:0010631)|homophilic cell adhesion (GO:0007156)	cell-cell adherens junction (GO:0005913)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CTGGAGGCTGAGGTTGAACCC	0.493																																						ENST00000261800.5																			0				NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196						c.(991-993)cTc>cGc		FAT atypical cadherin 2							106	115	112					5																	150947501		2203	4300	6503	SO:0001583	missense	2196				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding	g.chr5:150947501A>C	AF231022	CCDS4317.1	5q33.1	2014-07-21	2013-05-31		ENSG00000086570	ENSG00000086570		"Cadherins / Cadherin-related"	3596	protein-coding gene	gene with protein product	"cadherin-related family member 9"	604269	"FAT tumor suppressor (Drosophila) homolog 2", "FAT tumor suppressor homolog 2 (Drosophila)"			9693030	Standard	NM_001447		Approved	MEGF1, CDHF8, HFAT2, CDHR9	uc003lue.4	Q9NYQ8	OTTHUMG00000130126	ENST00000261800.5:c.992T>G	5.37:g.150947501A>C	ENSP00000261800:p.Leu331Arg						p.L331R	NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		1	1004	-		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	331					O75091|Q9NSR7	Missense_Mutation	SNP	ENST00000261800.5	37	c.992T>G	CCDS4317.1	.	.	.	.	.	.	.	.	.	.	A	20.7	4.040393	0.75732	.	.	ENSG00000086570	ENST00000261800	T	0.79352	-1.26	5.55	5.55	0.83447	.	0.113159	0.39759	N	0.001274	D	0.86598	0.5971	M	0.74647	2.275	0.51233	D	0.999916	D	0.67145	0.996	D	0.62955	0.909	D	0.88376	0.2998	10	0.87932	D	0	.	15.6827	0.77385	1.0:0.0:0.0:0.0	.	331	Q9NYQ8	FAT2_HUMAN	R	331	ENSP00000261800:L331R	ENSP00000261800:L331R	L	-	2	0	FAT2	150927694	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	9.262000	0.95591	2.107000	0.64212	0.402000	0.26972	CTC		0.493	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252434.1	NM_001447		5	230	0	0	0	1	0	5	230					C	150947501	A	C	150947501	3	2	185	1	0	0	0	0	1	0	0	0	5690	304	11	5	12149	5	FAT2	5	150947501	Missense_Mutation	SNP	A	TCGA-G9-7521-01A-11D-2260-08	13858110	150947501	29967759	10	8652											
ATP10B	23120	broad.mit.edu	37	chr5	160114977	160114977	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aagttgtagctctgtctcccTttctctggagagagcagcgg	7	12	12	10	1	3	1	0	0	3	1	5	3	3	2	1	2	3	4	1	2	2	3			TCGA-G9-7521-01A-11D-2260-08	TCGA-G9-7521-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74e478ae-4fd2-454f-a0d1-0d2d37527fb8	02ec6811-5ee2-4ebc-9a00-dc60ca0e4bbd	g.chr5:160114977T>C	ENST00000327245.5	-	5	951	c.105A>G	c.(103-105)aaA>aaG	p.K35K	CTC-529G1.1_ENST00000524198.1_RNA|ATP10B_ENST00000518411.1_5'UTR	NM_025153.2	NP_079429.2	O94823	AT10B_HUMAN	ATPase, class V, type 10B	35					phospholipid translocation (GO:0045332)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TCTGTCTCCCTTTCTCTGGAG	0.552																																						ENST00000327245.5																			0				NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75						c.(103-105)aaA>aaG		ATPase, class V, type 10B							145	146	146					5																	160114977		2045	4207	6252	SO:0001819	synonymous_variant	23120				ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr5:160114977T>C	AB018258	CCDS43394.1	5q34	2010-04-20	2007-09-19		ENSG00000118322	ENSG00000118322		"ATPases / P-type"	13543	protein-coding gene	gene with protein product			"ATPase, Class V, type 10B"			9872452, 11015572	Standard	NM_025153		Approved	ATPVB, KIAA0715, FLJ21477	uc003lym.1	O94823	OTTHUMG00000163551	ENST00000327245.5:c.105A>G	5.37:g.160114977T>C						CTC-529G1.1_ENST00000524198.1_RNA|ATP10B_ENST00000518411.1_5'UTR	p.K35K	NM_025153.2	NP_079429.2	O94823	AT10B_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		5	951	-	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	35					Q9H725	Silent	SNP	ENST00000327245.5	37	c.105A>G	CCDS43394.1																																																																																				0.552	ATP10B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374127.1	NM_025153		3	158	0	0	0	1	0	3	158					C	160114977	T	C	160114977	2	2	185	1	0	0	0	0	0	0	0	1	1117	1606	56	4		4	ATP10B	5	160114977	Silent	SNP	T	TCGA-G9-7521-01A-11D-2260-08	9167476	160114977	20800283	11	8653											
NSD1	64324	broad.mit.edu	37	chr5	176720972	176720972	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aaactggatgggcgtctgtcTtgtactgagcatgacccctg	8	11	12	10	1	2	2	0	2	2	0	2	3	2	3	2	2	3	2	2	2	2	2			TCGA-G9-7521-01A-11D-2260-08	TCGA-G9-7521-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74e478ae-4fd2-454f-a0d1-0d2d37527fb8	02ec6811-5ee2-4ebc-9a00-dc60ca0e4bbd	g.chr5:176720972T>A	ENST00000439151.2	+	23	6648	c.6603T>A	c.(6601-6603)tcT>tcA	p.S2201S	NSD1_ENST00000347982.4_Silent_p.S1932S|NSD1_ENST00000361032.4_Silent_p.S2098S|NSD1_ENST00000354179.4_Silent_p.S1932S	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	2201					gastrulation with mouth forming second (GO:0001702)|histone H3-K36 methylation (GO:0010452)|histone H4-K20 methylation (GO:0034770)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|estrogen receptor binding (GO:0030331)|histone methyltransferase activity (H3-K36 specific) (GO:0046975)|histone methyltransferase activity (H4-K20 specific) (GO:0042799)|retinoic acid receptor binding (GO:0042974)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription cofactor activity (GO:0003712)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		GGCGTCTGTCTTGTACTGAGC	0.567			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)																												ENST00000439151.2				Dom	yes		5	5q35	64324	T	nuclear receptor binding SET domain protein 1	yes	Sotos Syndrome	L	NUP98		AML		0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96						c.(6601-6603)tcT>tcA		nuclear receptor binding SET domain protein 1							94	92	93					5																	176720972		2203	4300	6503	SO:0001819	synonymous_variant	64324	Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	Familial Cancer Database	Weaver-Smith syndrome;Cerebral Gigantism;BWS, Exomphalos-Macroglossia-Gigantism (EMG) syndrome, Wiedemann-Beckwith syndrome, WBS	negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding	g.chr5:176720972T>A	AK026066	CCDS4412.1, CCDS4413.1	5q35	2014-09-17	2003-03-12		ENSG00000165671	ENSG00000165671		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	14234	protein-coding gene	gene with protein product		606681	"Sotos syndrome"	STO		9628876, 11896389	Standard	NM_022455		Approved	ARA267, FLJ22263, KMT3B	uc003mfr.4	Q96L73	OTTHUMG00000130846	ENST00000439151.2:c.6603T>A	5.37:g.176720972T>A		HNSCC(47;0.14)				NSD1_ENST00000361032.4_Silent_p.S2098S|NSD1_ENST00000354179.4_Silent_p.S1932S|NSD1_ENST00000347982.4_Silent_p.S1932S	p.S2201S	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)	23	6648	+	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	2201					Q96PD8|Q96RN7	Silent	SNP	ENST00000439151.2	37	c.6603T>A	CCDS4412.1																																																																																				0.567	NSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253412.2	NM_172349		35	51	0	0	0	1	0	35	51					A	176720972	T	A	176720972	2	1	185	1	0	0	0	0	0	0	0	1	10669	1596	56	5		5	NSD1	5	176720972	Silent	SNP	T	TCGA-G9-7521-01A-11D-2260-08	16605995	176720972	4194288	12	8654											
HIST1H2AG	8969	broad.mit.edu	37	chr6	27101129	27101129	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gccatccgcaacgacgaggaGctcaacaagctgctgggcaa	12	4	12	13	3	1	0	1	0	0	0	2	3	2	1	2	2	5	5	2	2	4	0	rs565599616		TCGA-G9-7521-01A-11D-2260-08	TCGA-G9-7521-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74e478ae-4fd2-454f-a0d1-0d2d37527fb8	02ec6811-5ee2-4ebc-9a00-dc60ca0e4bbd	g.chr6:27101129G>A	ENST00000359193.2	+	1	298	c.279G>A	c.(277-279)gaG>gaA	p.E93E	HIST1H2BJ_ENST00000339812.2_5'Flank|HIST1H2BJ_ENST00000541790.1_5'Flank|HIST1H2BJ_ENST00000607124.1_5'Flank	NM_021064.4	NP_066408.1	P0C0S8	H2A1_HUMAN	histone cluster 1, H2ag	93						extracellular vesicular exosome (GO:0070062)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)			biliary_tract(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1)	17						ACGACGAGGAGCTCAACAAGC	0.617													G|||	1	0.000199681	8e-04	0	5008	,	,		18026	0		0	False		,,,				2504	0					ENST00000359193.2																			0				biliary_tract(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1)	17						c.(277-279)gaG>gaA		histone cluster 1, H2ag							119	113	115					6																	27101129		2203	4300	6503	SO:0001819	synonymous_variant	8969				nucleosome assembly	nucleosome|nucleus	DNA binding|enzyme binding	g.chr6:27101129G>A	L19778	CCDS4619.1	6p22.1	2011-01-27	2006-10-11	2003-02-21	ENSG00000196787	ENSG00000196787		"Histones / Replication-dependent"	4737	protein-coding gene	gene with protein product		615012	"H2A histone family, member P", "histone 1, H2ag"	H2AFP		8179821, 12408966	Standard	NM_021064		Approved	pH2A/f, H2A/p, H2A.1b	uc003niw.3	P0C0S8	OTTHUMG00000014469	ENST00000359193.2:c.279G>A	6.37:g.27101129G>A							p.E93E	NM_021064.4	NP_066408.1	P0C0S8	H2A1_HUMAN			1	298	+			93					P02261|Q2M1R2|Q76PA6	Silent	SNP	ENST00000359193.2	37	c.279G>A	CCDS4619.1																																																																																				0.617	HIST1H2AG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040137.1	NM_021064		4	204	0	0	0	1	0	4	204					A	27101129	G	A	27101129	2	1	185	1	0	0	0	0	0	0	0	1	7133	962	34	3		3	HIST1H2AG	6	27101129	Silent	SNP	G	TCGA-G9-7521-01A-11D-2260-08		27101129	144013938	13	8655											
DNAH8	1769	broad.mit.edu	37	chr6	38830099	38830099	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccttgggcatgaacatgggaGgtgctcccgcaggacctgct	7	8	14	12	1	0	1	0	1	0	0	1	3	1	3	3	4	3	4	3	4	1	1			TCGA-G9-7521-01A-11D-2260-08	TCGA-G9-7521-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74e478ae-4fd2-454f-a0d1-0d2d37527fb8	02ec6811-5ee2-4ebc-9a00-dc60ca0e4bbd	g.chr6:38830099G>A	ENST00000359357.3	+	42	5778	c.5524G>A	c.(5524-5526)Ggt>Agt	p.G1842S	DNAH8_ENST00000441566.1_Missense_Mutation_p.G1842S|DNAH8_ENST00000449981.2_Missense_Mutation_p.G2059S			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	1842	AAA 1. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						GAACATGGGAGGTGCTCCCGC	0.473																																						ENST00000359357.3																			0				NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						c.(5524-5526)Ggt>Agt		dynein, axonemal, heavy chain 8							127	121	123					6																	38830099		2203	4300	6503	SO:0001583	missense	1769							g.chr6:38830099G>A	Z83806	CCDS75447.1	6p21.2	2012-04-19	2006-09-04		ENSG00000124721	ENSG00000124721		"Axonemal dyneins"	2952	protein-coding gene	gene with protein product		603337	"dynein, axonemal, heavy polypeptide 8"			9373155	Standard	NM_001206927		Approved	hdhc9	uc021yzh.1	Q96JB1	OTTHUMG00000016253	ENST00000359357.3:c.5524G>A	6.37:g.38830099G>A	ENSP00000352312:p.Gly1842Ser					DNAH8_ENST00000449981.2_Missense_Mutation_p.G2059S|DNAH8_ENST00000441566.1_Missense_Mutation_p.G1842S	p.G1842S							42	5778	+								O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Missense_Mutation	SNP	ENST00000359357.3	37	c.5524G>A		.	.	.	.	.	.	.	.	.	.	G	36	5.710083	0.96821	.	.	ENSG00000124721	ENST00000449981;ENST00000327475;ENST00000359357;ENST00000441566	T;T;T	0.16743	2.32;2.32;2.32	6.04	6.04	0.98038	ATPase, AAA+ type, core (1);	0.000000	0.85682	D	0.000000	T	0.47563	0.1452	M	0.90542	3.125	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.54497	-0.8285	10	0.72032	D	0.01	.	20.5948	0.99439	0.0:0.0:1.0:0.0	.	1842	Q96JB1	DYH8_HUMAN	S	2047;2047;1842;1842	ENSP00000333363:G2047S;ENSP00000352312:G1842S;ENSP00000402294:G1842S	ENSP00000333363:G2047S	G	+	1	0	DNAH8	38938077	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	9.694000	0.98686	2.873000	0.98535	0.563000	0.77884	GGT		0.473	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000043574.1	NM_001206927		3	136	0	0	0	1	0	3	136					A	38830099	G	A	38830099	3	1	185	1	0	0	0	0	1	0	0	0	4607	1000	35	3	5682	3	DNAH8	6	38830099	Missense_Mutation	SNP	G	TCGA-G9-7521-01A-11D-2260-08	11728970	38830099	132284968	14	8656											
WBSCR22	114049	broad.mit.edu	37	chr7	73112192	73112192	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cctgacacccagtacaccggCcgcaagcgcaagccccgctt	9	4	9	19	4	0	1	0	1	0	0	0	1	0	1	6	1	3	4	6	1	3	2			TCGA-G9-7521-01A-11D-2260-08	TCGA-G9-7521-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74e478ae-4fd2-454f-a0d1-0d2d37527fb8	02ec6811-5ee2-4ebc-9a00-dc60ca0e4bbd	g.chr7:73112192C>G	ENST00000265758.2	+	12	880	c.822C>G	c.(820-822)ggC>ggG	p.G274G	WBSCR22_ENST00000423497.1_Silent_p.G291G|STX1A_ENST00000484736.1_5'Flank|WBSCR22_ENST00000423166.2_Intron	NM_017528.4	NP_059998.2	O43709	WBS22_HUMAN	Williams Beuren syndrome chromosome region 22	274					chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|rRNA processing (GO:0006364)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	methyltransferase activity (GO:0008168)|poly(A) RNA binding (GO:0044822)			autonomic_ganglia(1)|large_intestine(2)|lung(9)|prostate(1)	13		Lung NSC(55;0.0908)|all_lung(88;0.198)				AGTACACCGGCCGCAAGCGCA	0.478																																						ENST00000265758.2																			0				autonomic_ganglia(1)|large_intestine(2)|lung(9)|prostate(1)	13						c.(820-822)ggC>ggG		Williams Beuren syndrome chromosome region 22							52	56	54					7																	73112192		2203	4300	6503	SO:0001819	synonymous_variant	114049					nucleus	methyltransferase activity	g.chr7:73112192C>G	AF420248	CCDS5557.1, CCDS56490.1	7q11.23	2012-06-12			ENSG00000071462	ENSG00000071462			16405	protein-coding gene	gene with protein product	"metastasis-related methyltransferase 1"	615733				12073013, 11978965, 21148752	Standard	NM_001202560		Approved	MGC19709, MGC2022, MGC5140, PP3381, WBMT, MERM1	uc003tyt.3	O43709	OTTHUMG00000023306	ENST00000265758.2:c.822C>G	7.37:g.73112192C>G						WBSCR22_ENST00000423166.2_Intron|WBSCR22_ENST00000423497.1_Silent_p.G291G	p.G274G	NM_017528.4	NP_059998.2	O43709	WBS22_HUMAN			12	880	+		Lung NSC(55;0.0908)|all_lung(88;0.198)	274					A8K501|C9K060|Q96P12|Q9BQ58|Q9HBP9	Silent	SNP	ENST00000265758.2	37	c.822C>G	CCDS5557.1	.	.	.	.	.	.	.	.	.	.	C	10.10	1.256994	0.22965	.	.	ENSG00000071462	ENST00000453316	.	.	.	6.08	5.19	0.71726	.	.	.	.	.	T	0.70710	0.3255	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.70051	-0.4978	4	.	.	.	-19.1303	14.6094	0.68504	0.1469:0.8531:0.0:0.0	.	.	.	.	A	58	.	.	P	+	1	0	WBSCR22	72750128	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	0.686000	0.25392	1.561000	0.49584	0.655000	0.94253	CCG		0.478	WBSCR22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252303.1			10	53	0	0	0	1	0	10	53					G	73112192	C	G	73112192	2	3	185	1	0	0	0	0	0	0	0	1	17262	726	26	5		5	WBSCR22	7	73112192	Silent	SNP	C	TCGA-G9-7521-01A-11D-2260-08		73112192	86026471	15	8657											
MOSPD3	64598	broad.mit.edu	37	chr7	100210601	100210601	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccctctataaccccacaggaActgcgcttcgcttccgaggt	8	9	8	16	3	1	0	0	0	1	0	3	2	2	1	4	2	3	2	4	2	3	4	rs143182268		TCGA-G9-7521-01A-11D-2260-08	TCGA-G9-7521-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74e478ae-4fd2-454f-a0d1-0d2d37527fb8	02ec6811-5ee2-4ebc-9a00-dc60ca0e4bbd	g.chr7:100210601A>T	ENST00000393950.2	+	1	469	c.187A>T	c.(187-189)Act>Tct	p.T63S	MOSPD3_ENST00000424091.2_Missense_Mutation_p.T63S|MOSPD3_ENST00000223054.4_Missense_Mutation_p.T63S|MOSPD3_ENST00000379527.2_Missense_Mutation_p.T63S	NM_023948.4	NP_076438.1	O75425	MSPD3_HUMAN	motile sperm domain containing 3	63	MSP. {ECO:0000255|PROSITE- ProRule:PRU00132}.				heart development (GO:0007507)	integral component of membrane (GO:0016021)	structural molecule activity (GO:0005198)			breast(1)|kidney(3)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	16	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					CCCCACAGGAACTGCGCTTCG	0.637																																						ENST00000393950.2																			0				breast(1)|kidney(3)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	16						c.(187-189)Act>Tct		motile sperm domain containing 3							56	63	61					7																	100210601		2203	4300	6503	SO:0001583	missense	64598					integral to membrane	structural molecule activity	g.chr7:100210601A>T	BC011653	CCDS5701.1, CCDS47662.1	7q22	2009-11-06			ENSG00000106330	ENSG00000106330			25078	protein-coding gene	gene with protein product		609125				15533722	Standard	XM_005250531		Approved	CDS3, NET30	uc003uvs.3	O75425	OTTHUMG00000159599	ENST00000393950.2:c.187A>T	7.37:g.100210601A>T	ENSP00000377522:p.Thr63Ser					MOSPD3_ENST00000379527.2_Missense_Mutation_p.T63S|MOSPD3_ENST00000223054.4_Missense_Mutation_p.T63S|MOSPD3_ENST00000424091.2_Missense_Mutation_p.T63S	p.T63S	NM_023948.4	NP_076438.1	O75425	MSPD3_HUMAN			1	469	+	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)		63			MSP.		A4D2D1|A6NG17|C9JE89|D6W5W1|O75423|O75424	Missense_Mutation	SNP	ENST00000393950.2	37	c.187A>T	CCDS5701.1	.	.	.	.	.	.	.	.	.	.	A	13.96	2.392179	0.42410	.	.	ENSG00000106330	ENST00000223054;ENST00000493970;ENST00000379527;ENST00000393950;ENST00000424091;ENST00000393953	T;T;T;T;T	0.70516	-0.49;-0.49;-0.49;-0.49;-0.49	3.99	2.98	0.34508	PapD-like (2);	0.358324	0.23813	N	0.044316	T	0.49098	0.1537	N	0.22421	0.69	0.24752	N	0.99298	B;B	0.16396	0.017;0.017	B;B	0.25614	0.025;0.062	T	0.18745	-1.0327	10	0.22109	T	0.4	-0.2819	2.097	0.03670	0.3272:0.3576:0.3152:0.0	.	63;63	C9JE89;O75425	.;MSPD3_HUMAN	S	63;63;63;63;63;49	ENSP00000223054:T63S;ENSP00000417276:T63S;ENSP00000368842:T63S;ENSP00000377522:T63S;ENSP00000404626:T63S	ENSP00000223054:T63S	T	+	1	0	MOSPD3	100048537	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	1.740000	0.38228	1.064000	0.40671	0.379000	0.24179	ACT		0.637	MOSPD3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356395.1	NM_023948		43	130	0	0	0	1	0	43	130					T	100210601	A	T	100210601	3	4	185	1	0	0	0	0	1	0	0	0	9717	43	2	5	189	5	MOSPD3	7	100210601	Missense_Mutation	SNP	A	TCGA-G9-7521-01A-11D-2260-08	27098409	100210601	58928062	16	8658											
ARMC10	83787	broad.mit.edu	37	chr7	102727086	102727086	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcccctcgtaggctattattCgtgaattgggtggtattcca	7	15	10	9	2	0	1	0	1	0	0	4	1	2	1	3	3	0	3	3	3	5	7			TCGA-G9-7521-01A-11D-2260-08	TCGA-G9-7521-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74e478ae-4fd2-454f-a0d1-0d2d37527fb8	02ec6811-5ee2-4ebc-9a00-dc60ca0e4bbd	g.chr7:102727086C>T	ENST00000323716.3	+	4	795	c.403C>T	c.(403-405)Cgt>Tgt	p.R135C	ARMC10_ENST00000454559.1_Missense_Mutation_p.R100C|ARMC10_ENST00000425331.1_Missense_Mutation_p.R100C|ARMC10_ENST00000428183.2_Missense_Mutation_p.R135C|ARMC10_ENST00000441711.2_Missense_Mutation_p.R100C|ARMC10_ENST00000541300.1_Missense_Mutation_p.R100C	NM_031905.4	NP_114111.2	Q8N2F6	ARM10_HUMAN	armadillo repeat containing 10	135					regulation of growth (GO:0040008)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)				NS(1)|breast(1)|central_nervous_system(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	11						GGCTATTATTCGTGAATTGGG	0.358																																						ENST00000323716.3																			0				NS(1)|breast(1)|central_nervous_system(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	11						c.(403-405)Cgt>Tgt		armadillo repeat containing 10							102	114	110					7																	102727086		2203	4298	6501	SO:0001583	missense	83787				regulation of growth	endoplasmic reticulum membrane|integral to membrane	binding	g.chr7:102727086C>T	AY150853	CCDS5728.1, CCDS55145.1, CCDS55146.1, CCDS55147.1, CCDS55148.1, CCDS55149.1	7q22.1	2013-02-14			ENSG00000170632	ENSG00000170632		"Armadillo repeat containing"	21706	protein-coding gene	gene with protein product	"specific Splicing Variant involved in Hepatocarcinogenesis"	611864				12839973	Standard	NM_031905		Approved	MGC3195, SVH	uc003vaw.2	Q8N2F6	OTTHUMG00000157201	ENST00000323716.3:c.403C>T	7.37:g.102727086C>T	ENSP00000319412:p.Arg135Cys					ARMC10_ENST00000454559.1_Missense_Mutation_p.R100C|ARMC10_ENST00000541300.1_Missense_Mutation_p.R100C|ARMC10_ENST00000441711.2_Missense_Mutation_p.R100C|ARMC10_ENST00000425331.1_Missense_Mutation_p.R100C|ARMC10_ENST00000428183.2_Missense_Mutation_p.R135C	p.R135C	NM_031905.4	NP_114111.2	Q8N2F6	ARM10_HUMAN			4	795	+			135					A8K703|B4DWJ8|F5GX65|Q75K91|Q75MG6|Q75ML8|Q8IZC1|Q8IZC2|Q8IZC3|Q9BTM6	Missense_Mutation	SNP	ENST00000323716.3	37	c.403C>T	CCDS5728.1	.	.	.	.	.	.	.	.	.	.	C	17.54	3.415501	0.62511	.	.	ENSG00000170632	ENST00000323716;ENST00000428183;ENST00000441711;ENST00000454559;ENST00000425331;ENST00000541300;ENST00000434153;ENST00000431642	T;T;T;T;T;T;T;T	0.39056	1.1;1.58;1.1;1.58;1.1;1.1;1.1;1.1	5.44	4.56	0.56223	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.64832	0.2634	M	0.80422	2.495	0.80722	D	1	D;P;D;D;D;D;D	0.89917	1.0;0.56;1.0;1.0;1.0;1.0;1.0	D;B;D;D;D;D;D	0.97110	0.994;0.112;0.998;0.999;0.999;0.999;1.0	T	0.67158	-0.5741	10	0.42905	T	0.14	-6.5641	13.428	0.61037	0.0:0.9227:0.0:0.0773	.	100;100;100;146;135;100;135	B4DWJ8;F5GX65;Q8N2F6-4;C9J5N7;Q8N2F6-3;Q8N2F6-2;Q8N2F6	.;.;.;.;.;.;ARM10_HUMAN	C	135;135;100;100;100;100;146;1	ENSP00000319412:R135C;ENSP00000396654:R135C;ENSP00000413619:R100C;ENSP00000405612:R100C;ENSP00000397969:R100C;ENSP00000440463:R100C;ENSP00000398201:R146C;ENSP00000406840:R1C	ENSP00000319412:R135C	R	+	1	0	ARMC10	102514322	1.000000	0.71417	1.000000	0.80357	0.628000	0.37860	5.167000	0.64972	1.433000	0.47394	-0.259000	0.10710	CGT		0.358	ARMC10-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000347882.1	NM_031905		9	103	0	0	0	1	0	9	103					T	102727086	C	T	102727086	3	4	185	1	0	0	0	0	1	0	0	0	950	884	31	2	417	2	ARMC10	7	102727086	Missense_Mutation	SNP	C	TCGA-G9-7521-01A-11D-2260-08	2516485	102727086	56411577	17	8659											
PDCL	5082	broad.mit.edu	37	chr9	125582653	125582653	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tgacagctgggtactctgcgGcaaggcagatcatgcaacca	11	7	12	11	1	2	2	1	1	1	1	2	2	2	2	1	3	5	5	1	3	3	1			TCGA-G9-7521-01A-11D-2260-08	TCGA-G9-7521-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74e478ae-4fd2-454f-a0d1-0d2d37527fb8	02ec6811-5ee2-4ebc-9a00-dc60ca0e4bbd	g.chr9:125582653G>A	ENST00000259467.4	-	4	782	c.617C>T	c.(616-618)gCc>gTc	p.A206V		NM_005388.4	NP_005379.3	Q13371	PHLP_HUMAN	phosducin-like	206					heterotrimeric G-protein complex assembly (GO:1902605)|intracellular signal transduction (GO:0035556)|negative regulation of protein refolding (GO:0061084)|protein folding (GO:0006457)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|signal transduction (GO:0007165)|visual perception (GO:0007601)	cytoplasm (GO:0005737)	receptor signaling protein activity (GO:0005057)			endometrium(1)|large_intestine(2)|lung(5)|skin(1)|stomach(1)	10						GTACTCTGCGGCAAGGCAGAT	0.478																																						ENST00000259467.4																			0				endometrium(1)|large_intestine(2)|lung(5)|skin(1)|stomach(1)	10						c.(616-618)gCc>gTc		phosducin-like							96	75	82					9																	125582653		2203	4300	6503	SO:0001583	missense	5082				signal transduction|visual perception			g.chr9:125582653G>A	AF083325	CCDS6845.1	9q12-q13	2008-07-21			ENSG00000136940	ENSG00000136940			8770	protein-coding gene	gene with protein product		604421				10095058	Standard	NM_005388		Approved	PhLP, DKFZp564M1863	uc004bmz.2	Q13371	OTTHUMG00000020624	ENST00000259467.4:c.617C>T	9.37:g.125582653G>A	ENSP00000259467:p.Ala206Val						p.A206V	NM_005388.4	NP_005379.3	Q13371	PHLP_HUMAN			4	782	-			206					Q4VXB6|Q96AF1|Q9UEW7|Q9UFL0|Q9UNX1|Q9UNX2	Missense_Mutation	SNP	ENST00000259467.4	37	c.617C>T	CCDS6845.1	.	.	.	.	.	.	.	.	.	.	G	19.39	3.818373	0.71028	.	.	ENSG00000136940	ENST00000259467	T	0.21932	1.98	5.72	5.72	0.89469	Phosducin, thioredoxin-like domain (1);Thioredoxin-like fold (2);	0.000000	0.85682	D	0.000000	T	0.49898	0.1584	M	0.76574	2.34	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.49293	-0.8955	10	0.87932	D	0	-15.2269	18.8846	0.92370	0.0:0.0:1.0:0.0	.	206	Q13371	PHLP_HUMAN	V	206	ENSP00000259467:A206V	ENSP00000259467:A206V	A	-	2	0	PDCL	124622474	1.000000	0.71417	0.233000	0.24025	0.191000	0.23601	9.476000	0.97823	2.717000	0.92951	0.655000	0.94253	GCC		0.478	PDCL-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053956.1	NM_005388		3	37	0	0	0	1	0	3	37					A	125582653	G	A	125582653	3	1	185	1	0	0	0	0	1	0	0	0	11626	1203	42	3	292	3	PDCL	9	125582653	Missense_Mutation	SNP	G	TCGA-G9-7521-01A-11D-2260-08		125582653	15630778	18	8660											
PSD	5662	broad.mit.edu	37	chr10	104165237	104165237	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccccgctgatccgcttgatgAccttggggttggggtcggcc	3	10	15	13	3	0	3	0	3	0	0	2	3	1	3	5	5	0	3	5	5	0	3			TCGA-G9-7521-01A-11D-2260-08	TCGA-G9-7521-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74e478ae-4fd2-454f-a0d1-0d2d37527fb8	02ec6811-5ee2-4ebc-9a00-dc60ca0e4bbd	g.chr10:104165237A>G	ENST00000020673.5	-	12	2718	c.2192T>C	c.(2191-2193)gTc>gCc	p.V731A	PSD_ENST00000406432.1_Missense_Mutation_p.V731A	NM_001270966.1|NM_002779.4	NP_001257895.1|NP_002770.3	A5PKW4	PSD1_HUMAN	pleckstrin and Sec7 domain containing	731					neuron differentiation (GO:0030182)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cell projection (GO:0042995)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|phospholipid binding (GO:0005543)|signal transducer activity (GO:0004871)			breast(4)|endometrium(2)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				Epithelial(162;1.27e-08)|all cancers(201;2.85e-07)		CCGCTTGATGACCTTGGGGTT	0.662																																						ENST00000020673.5																			0				breast(4)|endometrium(2)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						c.(2191-2193)gTc>gCc		pleckstrin and Sec7 domain containing							56	54	54					10																	104165237		2203	4300	6503	SO:0001583	missense	5662				regulation of ARF protein signal transduction	cytoplasm|plasma membrane|ruffle	ARF guanyl-nucleotide exchange factor activity|signal transducer activity	g.chr10:104165237A>G	X99688	CCDS31272.1, CCDS73187.1	10q24	2013-01-10	2004-04-28		ENSG00000059915	ENSG00000059915		"Pleckstrin homology (PH) domain containing"	9507	protein-coding gene	gene with protein product		602327	"pleckstrin and Sec7 domain protein"			9417912	Standard	NM_002779		Approved	KIAA2011, TYL, PSD1	uc009xxd.2	A5PKW4	OTTHUMG00000018954	ENST00000020673.5:c.2192T>C	10.37:g.104165237A>G	ENSP00000020673:p.Val731Ala					PSD_ENST00000406432.1_Missense_Mutation_p.V731A	p.V731A	NM_001270966.1|NM_002779.3	NP_001257895.1|NP_002770.3	A5PKW4	PSD1_HUMAN		Epithelial(162;1.27e-08)|all cancers(201;2.85e-07)	12	2718	-			731					B1AKX7|D3DR87|Q15673|Q8IVG0	Missense_Mutation	SNP	ENST00000020673.5	37	c.2192T>C	CCDS31272.1	.	.	.	.	.	.	.	.	.	.	A	13.33	2.204969	0.38905	.	.	ENSG00000059915	ENST00000020673;ENST00000541902;ENST00000406432	T;T	0.16597	2.33;2.33	4.21	4.21	0.49690	.	0.189342	0.36034	N	0.002834	T	0.06917	0.0176	N	0.08118	0	0.34148	D	0.667175	B;B	0.17852	0.005;0.024	B;B	0.19148	0.024;0.024	T	0.21895	-1.0232	10	0.17369	T	0.5	.	4.2974	0.10908	0.7318:0.0:0.2682:0.0	.	731;634	A5PKW4;Q86YI3	PSD1_HUMAN;.	A	731;634;731	ENSP00000020673:V731A;ENSP00000384830:V731A	ENSP00000020673:V731A	V	-	2	0	PSD	104155227	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.213000	0.58520	1.769000	0.52152	0.459000	0.35465	GTC		0.662	PSD-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050041.2			29	45	0	0	0	1	0	29	45					G	104165237	A	G	104165237	3	3	185	1	0	0	0	0	1	0	0	0	12646	275	10	4	906	4	PSD	10	104165237	Missense_Mutation	SNP	A	TCGA-G9-7521-01A-11D-2260-08		104165237	31369510	19	8661											
OR51B4	79339	broad.mit.edu	37	chr11	5322889	5322889	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gaatgaatgaaggattgggtGaaacaggcagcatgggcaat	15	7	15	4	0	0	3	0	3	0	0	0	5	0	4	0	4	2	3	0	4	5	1			TCGA-G9-7521-01A-11D-2260-08	TCGA-G9-7521-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74e478ae-4fd2-454f-a0d1-0d2d37527fb8	02ec6811-5ee2-4ebc-9a00-dc60ca0e4bbd	g.chr11:5322889G>A	ENST00000380224.1	-	1	337	c.288C>T	c.(286-288)ttC>ttT	p.F96F	HBG2_ENST00000380252.1_Intron|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380259.2_Intron	NM_033179.2	NP_149419.2	Q9Y5P0	O51B4_HUMAN	olfactory receptor, family 51, subfamily B, member 4	96					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	20		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.76e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGGATTGGGTGAAACAGGCAG	0.507																																						ENST00000380224.1																			0				breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	20						c.(286-288)ttC>ttT		olfactory receptor, family 51, subfamily B, member 4							151	136	141					11																	5322889		2201	4297	6498	SO:0001819	synonymous_variant	79339				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5322889G>A	BC069094	CCDS7757.1	11p15.4	2012-08-09			ENSG00000183251	ENSG00000183251		"GPCR / Class A : Olfactory receptors"	14708	protein-coding gene	gene with protein product							Standard	NM_033179		Approved		uc010qza.2	Q9Y5P0	OTTHUMG00000066665	ENST00000380224.1:c.288C>T	11.37:g.5322889G>A						HBG2_ENST00000380259.2_Intron|HBG2_ENST00000380252.1_Intron|HBE1_ENST00000380237.1_Intron	p.F96F	NM_033179.2	NP_149419.2	Q9Y5P0	O51B4_HUMAN		Epithelial(150;2.76e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	337	-		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)	96					A7MAV5|Q6NTD7	Silent	SNP	ENST00000380224.1	37	c.288C>T	CCDS7757.1																																																																																				0.507	OR51B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142956.2	NM_033179		3	121	0	0	0	1	0	3	121					A	5322889	G	A	5322889	2	1	185	1	0	0	0	0	0	0	0	1	11090	1281	45	3		3	OR51B4	11	5322889	Silent	SNP	G	TCGA-G9-7521-01A-11D-2260-08		5322889	129683627	20	8662											
OR2AG1	144125	broad.mit.edu	37	chr11	6806516	6806516	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgtcactcccaaggcccttgCggactttctgcgcagagaaa	9	9	10	13	2	2	1	1	0	1	1	3	3	3	2	2	2	2	1	2	2	2	2			TCGA-G9-7521-01A-11D-2260-08	TCGA-G9-7521-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74e478ae-4fd2-454f-a0d1-0d2d37527fb8	02ec6811-5ee2-4ebc-9a00-dc60ca0e4bbd	g.chr11:6806516C>T	ENST00000307401.4	+	1	269	c.248C>T	c.(247-249)gCg>gTg	p.A83V		NM_001004489.2	NP_001004489.1	Q9H205	O2AG1_HUMAN	olfactory receptor, family 2, subfamily AG, member 1	83						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(13)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	26		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)		Epithelial(150;2.19e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		AAGGCCCTTGCGGACTTTCTG	0.572																																						ENST00000307401.4																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(13)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	26						c.(247-249)gCg>gTg		olfactory receptor, family 2, subfamily AG, member 1							132	120	124					11																	6806516		2201	4296	6497	SO:0001583	missense	144125				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:6806516C>T	AB065823	CCDS31414.1	11p15.4	2012-08-09			ENSG00000170803	ENSG00000170803		"GPCR / Class A : Olfactory receptors"	15142	protein-coding gene	gene with protein product				OR2AG3			Standard	NM_001004489		Approved		uc001mer.2	Q9H205	OTTHUMG00000165735	ENST00000307401.4:c.248C>T	11.37:g.6806516C>T	ENSP00000307447:p.Ala83Val						p.A83V	NM_001004489.2	NP_001004489.1	Q9H205	O2AG1_HUMAN		Epithelial(150;2.19e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)	1	269	+		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)	83					B9EKV7|Q6IFG7|Q96R26	Missense_Mutation	SNP	ENST00000307401.4	37	c.248C>T	CCDS31414.1	.	.	.	.	.	.	.	.	.	.	C	0	-2.855212	0.00065	.	.	ENSG00000170803	ENST00000307401	T	0.00402	7.56	4.03	2.91	0.33838	GPCR, rhodopsin-like superfamily (1);	1.594120	0.03893	N	0.278995	T	0.00178	0.0005	N	0.03253	-0.375	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.36286	-0.9754	10	0.02654	T	1	.	7.1573	0.25645	0.0:0.1143:0.0:0.8857	.	83	Q9H205	O2AG1_HUMAN	V	83	ENSP00000307447:A83V	ENSP00000307447:A83V	A	+	2	0	OR2AG1	6763092	0.000000	0.05858	0.027000	0.17364	0.000000	0.00434	-0.351000	0.07711	0.727000	0.32360	-0.469000	0.05056	GCG		0.572	OR2AG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385980.1	NM_001004489		11	80	0	0	0	1	0	11	80					T	6806516	C	T	6806516	3	4	185	1	0	0	0	0	1	0	0	0	10984	768	27	1	250	1	OR2AG1	11	6806516	Missense_Mutation	SNP	C	TCGA-G9-7521-01A-11D-2260-08	1483627	6806516	128200000	21	8663											
TEAD1	7003	broad.mit.edu	37	chr11	12946524	12946524	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtgtaaccagtcagtacgaGagttctgaaaatatgacagt	14	10	11	6	1	2	3	1	2	1	1	2	4	2	3	1	1	2	3	1	1	5	4			TCGA-G9-7521-01A-11D-2260-08	TCGA-G9-7521-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74e478ae-4fd2-454f-a0d1-0d2d37527fb8	02ec6811-5ee2-4ebc-9a00-dc60ca0e4bbd	g.chr11:12946524G>T	ENST00000526600.1	+	6	874	c.651G>T	c.(649-651)gaG>gaT	p.E217D	TEAD1_ENST00000334310.6_Missense_Mutation_p.E244D|TEAD1_ENST00000361905.4_Missense_Mutation_p.E298D|TEAD1_ENST00000361985.2_Missense_Mutation_p.E313D|TEAD1_ENST00000527636.1_Missense_Mutation_p.E313D|TEAD1_ENST00000527575.1_Missense_Mutation_p.E255D|RP11-47J17.2_ENST00000454086.2_RNA			P28347	TEAD1_HUMAN	TEA domain family member 1 (SV40 transcriptional enhancer factor)	313	Transcriptional activation. {ECO:0000255}.				gene expression (GO:0010467)|hippo signaling (GO:0035329)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)	17				Epithelial(150;0.00223)|BRCA - Breast invasive adenocarcinoma(625;0.236)		GTCAGTACGAGAGTTCTGAAA	0.418																																						ENST00000361905.4																			0				breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)	17						c.(892-894)gaG>gaT		TEA domain family member 1 (SV40 transcriptional enhancer factor)							161	151	154					11																	12946524		2200	4294	6494	SO:0001583	missense	7003				hippo signaling cascade		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr11:12946524G>T	X84839	CCDS7810.1, CCDS7810.2	11p15.4	2008-11-12				ENSG00000187079			11714	protein-coding gene	gene with protein product		189967	"atrophia areata, peripapillary chorioretinal degeneration"	TCF13, AA		1851669, 9889009, 15016762	Standard	NM_021961		Approved	TEF-1	uc021qdx.1	P28347		ENST00000526600.1:c.651G>T	11.37:g.12946524G>T	ENSP00000435393:p.Glu217Asp					TEAD1_ENST00000527575.1_Missense_Mutation_p.E255D|TEAD1_ENST00000361985.2_Missense_Mutation_p.E313D|TEAD1_ENST00000334310.6_Missense_Mutation_p.E244D|TEAD1_ENST00000527636.1_Missense_Mutation_p.E313D|TEAD1_ENST00000526600.1_Missense_Mutation_p.E217D	p.E298D	NM_021961.5	NP_068780.2	P28347	TEAD1_HUMAN		Epithelial(150;0.00223)|BRCA - Breast invasive adenocarcinoma(625;0.236)	11	1559	+			313			Transcriptional activation (Potential).		A4FUP2|E7EV65	Missense_Mutation	SNP	ENST00000526600.1	37	c.894G>T		.	.	.	.	.	.	.	.	.	.	G	22.6	4.309684	0.81247	.	.	ENSG00000187079	ENST00000361905;ENST00000527636;ENST00000527575;ENST00000334310;ENST00000361985;ENST00000526600	T;T;T;T;T;T	0.36878	1.23;1.23;1.23;1.23;1.23;1.23	5.75	4.84	0.62591	.	0.000000	0.85682	D	0.000000	T	0.65281	0.2676	M	0.93328	3.405	0.29763	N	0.835409	P;D;P	0.71674	0.936;0.998;0.555	D;D;B	0.66084	0.937;0.941;0.38	T	0.70270	-0.4918	10	0.62326	D	0.03	-0.7127	10.2184	0.43182	0.1507:0.0:0.8493:0.0	.	244;217;313	A4FUP2;E9PKB7;P28347	.;.;TEAD1_HUMAN	D	298;313;255;244;313;217	ENSP00000355332:E298D;ENSP00000435233:E313D;ENSP00000435977:E255D;ENSP00000334754:E244D;ENSP00000354588:E313D;ENSP00000435393:E217D	ENSP00000334754:E244D	E	+	3	2	TEAD1	12903100	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.867000	0.39499	1.436000	0.47453	0.655000	0.94253	GAG		0.418	TEAD1-007	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000387220.1	NM_021961		13	89	1	0	9.05144e-12	1	1.00572e-11	13	89					T	12946524	G	T	12946524	3	4	185	1	0	0	0	0	1	0	0	0	15735	933	33	5	973	5	TEAD1	11	12946524	Missense_Mutation	SNP	G	TCGA-G9-7521-01A-11D-2260-08	6140008	12946524	122059992	22	8664											
ATM	472	broad.mit.edu	37	chr11	108218046	108218046	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggtgatagacatgtacagaaTatcttgataaatgagcagtc	15	11	10	5	0	1	5	0	3	1	2	2	5	1	5	0	1	2	2	0	1	6	5			TCGA-G9-7521-01A-11D-2260-08	TCGA-G9-7521-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74e478ae-4fd2-454f-a0d1-0d2d37527fb8	02ec6811-5ee2-4ebc-9a00-dc60ca0e4bbd	g.chr11:108218046T>A	ENST00000452508.2	+	60	8814	c.8625T>A	c.(8623-8625)aaT>aaA	p.N2875K	C11orf65_ENST00000526725.1_Intron|C11orf65_ENST00000525729.1_Intron|ATM_ENST00000278616.4_Missense_Mutation_p.N2875K|ATM_ENST00000525178.1_3'UTR			Q13315	ATM_HUMAN	ATM serine/threonine kinase	2875	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.				brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|DNA damage induced protein phosphorylation (GO:0006975)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|heart development (GO:0007507)|histone mRNA catabolic process (GO:0071044)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|lipoprotein catabolic process (GO:0042159)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of B cell proliferation (GO:0030889)|neuron apoptotic process (GO:0051402)|oocyte development (GO:0048599)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of neuron apoptotic process (GO:0043525)|pre-B cell allelic exclusion (GO:0002331)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reciprocal meiotic recombination (GO:0007131)|replicative senescence (GO:0090399)|response to hypoxia (GO:0001666)|response to ionizing radiation (GO:0010212)|signal transduction (GO:0007165)|signal transduction involved in mitotic G2 DNA damage checkpoint (GO:0072434)|somitogenesis (GO:0001756)|telomere maintenance (GO:0000723)	cytoplasmic vesicle (GO:0031410)|nucleoplasm (GO:0005654)|spindle (GO:0005819)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|histone serine kinase activity (GO:0035174)|protein complex binding (GO:0032403)|protein dimerization activity (GO:0046983)|protein N-terminus binding (GO:0047485)|protein serine/threonine kinase activity (GO:0004674)			NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	Caffeine(DB00201)	ATGTACAGAATATCTTGATAA	0.303			"D, Mis, N, F, S"		T-PLL	"leukemia, lymphoma, medulloblastoma, glioma"		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)																												ENST00000278616.4			yes	Rec	yes	Ataxia-telangiectasia	11	11q22.3	472	"D, Mis, N, F, S"	ataxia telangiectasia mutated			"L, O"		"leukemia, lymphoma, medulloblastoma, glioma"	T-PLL		0				NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448						c.(8623-8625)aaT>aaA	Genes defective in diseases associated with sensitivity to DNA damaging agents	ataxia telangiectasia mutated							99	105	103					11																	108218046		2201	4295	6496	SO:0001583	missense	472	Ataxia Telangiectasia	Familial Cancer Database	AT, Louis-Bar syndrome	cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding	g.chr11:108218046T>A	AB209133	CCDS31669.1	11q22-q23	2014-09-17	2014-06-17		ENSG00000149311	ENSG00000149311			795	protein-coding gene	gene with protein product	"TEL1, telomere maintenance 1, homolog (S. cerevisiae)"	607585	"ataxia telangiectasia mutated (includes complementation groups A, C and D)", "ataxia telangiectasia mutated"	ATA, ATDC, ATC, ATD			Standard	XM_005271561		Approved	TEL1, TELO1	uc001pkb.1	Q13315	OTTHUMG00000166480	ENST00000452508.2:c.8625T>A	11.37:g.108218046T>A	ENSP00000388058:p.Asn2875Lys	TSP Lung(14;0.12)				ATM_ENST00000525178.1_3'UTR|ATM_ENST00000452508.2_Missense_Mutation_p.N2875K|C11orf65_ENST00000525729.1_Intron|C11orf65_ENST00000526725.1_Intron	p.N2875K	NM_000051.3	NP_000042.3	Q13315	ATM_HUMAN		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	59	9010	+		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)	2875			PI3K/PI4K.		B2RNX5|O15429|Q12758|Q16551|Q93007|Q9NP02|Q9UCX7	Missense_Mutation	SNP	ENST00000452508.2	37	c.8625T>A	CCDS31669.1	.	.	.	.	.	.	.	.	.	.	T	21.1	4.093052	0.76756	.	.	ENSG00000149311	ENST00000278616;ENST00000452508	D;D	0.93189	-3.18;-3.18	5.52	0.703	0.18116	Protein kinase-like domain (1);Armadillo-type fold (1);Phosphatidylinositol 3/4-kinase, conserved site (1);Phosphatidylinositol 3-/4-kinase, catalytic (4);	0.000000	0.85682	D	0.000000	D	0.97629	0.9223	H	0.98866	4.355	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95869	0.8889	10	0.87932	D	0	.	9.0404	0.36314	0.0:0.3603:0.0:0.6397	.	2875	Q13315	ATM_HUMAN	K	2875	ENSP00000278616:N2875K;ENSP00000388058:N2875K	ENSP00000278616:N2875K	N	+	3	2	ATM	107723256	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	0.640000	0.24705	0.078000	0.16900	0.454000	0.30748	AAT		0.303	ATM-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389938.1	NM_000051		21	60	0	0	0	1	0	21	60					A	108218046	T	A	108218046	3	1	185	1	0	0	0	0	1	0	0	0	1109	1403	49	5	8855	5	ATM	11	108218046	Missense_Mutation	SNP	T	TCGA-G9-7521-01A-11D-2260-08	95271522	108218046	26788470	23	8665											
GPD1	2819	broad.mit.edu	37	chr12	50498486	50498486	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	actgagatcatcaacacgcaGcatgagaatgtcaaatacct	16	8	7	10	1	3	2	3	2	0	2	3	4	3	2	1	0	3	2	1	0	4	1			TCGA-G9-7521-01A-11D-2260-08	TCGA-G9-7521-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74e478ae-4fd2-454f-a0d1-0d2d37527fb8	02ec6811-5ee2-4ebc-9a00-dc60ca0e4bbd	g.chr12:50498486G>A	ENST00000301149.3	+	2	403	c.171G>A	c.(169-171)caG>caA	p.Q57Q	GPD1_ENST00000547190.1_3'UTR|GPD1_ENST00000548814.1_Silent_p.Q57Q	NM_001257199.1|NM_005276.3	NP_001244128.1|NP_005267.2	P21695	GPDA_HUMAN	glycerol-3-phosphate dehydrogenase 1 (soluble)	57					cellular lipid metabolic process (GO:0044255)|cellular response to cAMP (GO:0071320)|cellular response to tumor necrosis factor (GO:0071356)|gluconeogenesis (GO:0006094)|glycerol-3-phosphate catabolic process (GO:0046168)|glycerophosphate shuttle (GO:0006127)|glycerophospholipid biosynthetic process (GO:0046474)|NADH oxidation (GO:0006116)|phosphatidic acid biosynthetic process (GO:0006654)|phospholipid metabolic process (GO:0006644)|positive regulation of glycolytic process (GO:0045821)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|glycerol-3-phosphate dehydrogenase complex (GO:0009331)|mitochondrion (GO:0005739)	glycerol-3-phosphate dehydrogenase [NAD+] activity (GO:0004367)|glycerol-3-phosphate dehydrogenase activity (GO:0004368)|NAD binding (GO:0051287)			breast(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	8						TCAACACGCAGCATGAGAATG	0.547																																					NSCLC(141;1402 1905 9497 13391 44868)	ENST00000301149.3																			0				breast(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	8						c.(169-171)caG>caA		glycerol-3-phosphate dehydrogenase 1 (soluble)	NADH(DB00157)						118	106	110					12																	50498486		2203	4300	6503	SO:0001819	synonymous_variant	2819				glycerol-3-phosphate catabolic process|triglyceride biosynthetic process	cytosol|glycerol-3-phosphate dehydrogenase complex	glycerol-3-phosphate dehydrogenase|protein homodimerization activity	g.chr12:50498486G>A		CCDS8799.1, CCDS58229.1	12q13.12	2013-09-20			ENSG00000167588	ENSG00000167588	1.1.1.8		4455	protein-coding gene	gene with protein product		138420					Standard	NM_005276		Approved		uc001rvz.4	P21695	OTTHUMG00000169813	ENST00000301149.3:c.171G>A	12.37:g.50498486G>A						GPD1_ENST00000547190.1_3'UTR|GPD1_ENST00000548814.1_Silent_p.Q57Q	p.Q57Q	NM_001257199.1|NM_005276.3	NP_001244128.1|NP_005267.2	P21695	GPDA_HUMAN			2	403	+			57					F8W1L5|Q8N1B0	Silent	SNP	ENST00000301149.3	37	c.171G>A	CCDS8799.1																																																																																				0.547	GPD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406018.1			5	260	0	0	0	1	0	5	260					A	50498486	G	A	50498486	2	1	185	1	0	0	0	0	0	0	0	1	6604	962	34	3		3	GPD1	12	50498486	Silent	SNP	G	TCGA-G9-7521-01A-11D-2260-08		50498486	83353409	24	8666											
GOLGA2B	55592	broad.mit.edu	37	chr12	100551034	100551034	+	RNA	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	ggtacagtgcgatgtactctCctgcaggaggacaggactca	10	8	13	10	1	2	0	1	0	1	0	3	4	2	3	1	4	4	3	1	4	2	2			TCGA-G9-7521-01A-11D-2260-08	TCGA-G9-7521-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74e478ae-4fd2-454f-a0d1-0d2d37527fb8	02ec6811-5ee2-4ebc-9a00-dc60ca0e4bbd	g.chr12:100551034C>G	ENST00000397112.4	-	0	1893				RN7SL176P_ENST00000580352.1_RNA|AC010203.1_ENST00000408843.1_RNA	NR_036632.1		Q9HBQ8	GGA2B_HUMAN								Golgi apparatus (GO:0005794)				large_intestine(1)|lung(3)	4						GATGTACTCTCCTGCAGGAGG	0.622																																						ENST00000408843.1																			0																				114	97	103					12																	100551034		2203	4300	6503			0							g.chr12:100551034C>G																													12.37:g.100551034C>G						GOLGA2B_ENST00000397112.4_RNA								0	82	-								Q9NSV2	RNA	SNP	ENST00000397112.4	37																																																																																						0.622	GOLGA2B-004	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000396439.2			36	64	0	0	0	1	0	36	64					G	100551034	C	G	100551034	1	3	185	0	1	0	0	0	0	0	0	0	6553	869	30	5		5	GOLGA2B	12	100551034	RNA	SNP	C	TCGA-G9-7521-01A-11D-2260-08	50052548	100551034	33300861	25	8667											
NUP37	79023	broad.mit.edu	37	chr12	102470594	102470594	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	cctgaataagcaggctcgatCcatgtgaacaggtctcttat	11	11	9	10	1	1	2	0	2	1	0	4	3	2	2	2	2	2	2	2	2	4	2			TCGA-G9-7521-01A-11D-2260-08	TCGA-G9-7521-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74e478ae-4fd2-454f-a0d1-0d2d37527fb8	02ec6811-5ee2-4ebc-9a00-dc60ca0e4bbd	g.chr12:102470594C>G	ENST00000552283.1	-	8	893	c.754G>C	c.(754-756)Gat>Cat	p.D252H	RP11-554E23.4_ENST00000552707.1_RNA|NUP37_ENST00000543021.1_5'Flank|NUP37_ENST00000251074.1_Missense_Mutation_p.D252H			Q8NFH4	NUP37_HUMAN	nucleoporin 37kDa	252					carbohydrate metabolic process (GO:0005975)|chromosome segregation (GO:0007059)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|kinetochore (GO:0000776)|nuclear envelope (GO:0005635)|nuclear pore outer ring (GO:0031080)|nucleus (GO:0005634)				endometrium(3)|large_intestine(3)|lung(10)|ovary(1)	17						CAGGCTCGATCCATGTGAACA	0.363																																						ENST00000552283.1																			0				endometrium(3)|large_intestine(3)|lung(10)|ovary(1)	17						c.(754-756)Gat>Cat		nucleoporin 37kDa							156	133	141					12																	102470594		2203	4300	6503	SO:0001583	missense	79023				carbohydrate metabolic process|cell division|chromosome segregation|glucose transport|mitotic prometaphase|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex	protein binding	g.chr12:102470594C>G	AF514994	CCDS9089.1	12q23.2	2014-08-12			ENSG00000075188	ENSG00000075188		"WD repeat domain containing"	29929	protein-coding gene	gene with protein product		609264				12196509	Standard	NM_024057		Approved	MGC5585, FLJ22618	uc001tjc.3	Q8NFH4	OTTHUMG00000170478	ENST00000552283.1:c.754G>C	12.37:g.102470594C>G	ENSP00000448054:p.Asp252His					NUP37_ENST00000251074.1_Missense_Mutation_p.D252H	p.D252H			Q8NFH4	NUP37_HUMAN			8	893	-			252					Q9H644	Missense_Mutation	SNP	ENST00000552283.1	37	c.754G>C	CCDS9089.1	.	.	.	.	.	.	.	.	.	.	C	26.7	4.761928	0.89932	.	.	ENSG00000075188	ENST00000552283;ENST00000251074;ENST00000551744	T;T;T	0.31247	1.5;1.5;2.67	5.94	5.94	0.96194	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.51924	0.1703	M	0.78801	2.425	0.80722	D	1	D	0.59357	0.985	P	0.52710	0.707	T	0.52087	-0.8622	10	0.54805	T	0.06	-22.1885	20.3736	0.98901	0.0:1.0:0.0:0.0	.	252	Q8NFH4	NUP37_HUMAN	H	252;252;161	ENSP00000448054:D252H;ENSP00000251074:D252H;ENSP00000448086:D161H	ENSP00000251074:D252H	D	-	1	0	NUP37	100994724	1.000000	0.71417	0.998000	0.56505	0.962000	0.63368	6.615000	0.74201	2.820000	0.97059	0.650000	0.86243	GAT		0.363	NUP37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409330.1	NM_024057		6	27	0	0	0	1	0	6	27					G	102470594	C	G	102470594	3	3	185	1	0	0	0	0	1	0	0	0	10764	855	30	5	238	5	NUP37	12	102470594	Missense_Mutation	SNP	C	TCGA-G9-7521-01A-11D-2260-08	1919560	102470594	31381301	26	8668											
USP30	84749	broad.mit.edu	37	chr12	109519153	109519153	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttcagagtcctgttcgattTgatacctttgatagcctttc	7	18	7	9	1	1	3	1	2	0	1	4	4	2	3	3	0	2	1	3	0	2	7			TCGA-G9-7521-01A-11D-2260-08	TCGA-G9-7521-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74e478ae-4fd2-454f-a0d1-0d2d37527fb8	02ec6811-5ee2-4ebc-9a00-dc60ca0e4bbd	g.chr12:109519153T>G	ENST00000257548.5	+	8	828	c.735T>G	c.(733-735)ttT>ttG	p.F245L	USP30_ENST00000392784.2_Missense_Mutation_p.F214L	NM_032663.3	NP_116052.2	Q70CQ3	UBP30_HUMAN	ubiquitin specific peptidase 30	245	USP.				mitochondrial fusion (GO:0008053)|mitochondrion degradation (GO:0000422)|protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)	integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	cysteine-type endopeptidase activity (GO:0004197)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			endometrium(7)|kidney(1)|large_intestine(1)|liver(2)|lung(11)|prostate(1)|skin(3)|stomach(2)	28						CTGTTCGATTTGATACCTTTG	0.353																																						ENST00000257548.5																			0				endometrium(7)|kidney(1)|large_intestine(1)|liver(2)|lung(11)|prostate(1)|skin(3)|stomach(2)	28						c.(733-735)ttT>ttG		ubiquitin specific peptidase 30							174	172	172					12																	109519153		2203	4300	6503	SO:0001583	missense	84749				ubiquitin-dependent protein catabolic process	integral to membrane|mitochondrial outer membrane	cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr12:109519153T>G	BC022094	CCDS9123.2	12q23.3	2006-01-20	2005-08-08		ENSG00000135093	ENSG00000135093		"Ubiquitin-specific peptidases"	20065	protein-coding gene	gene with protein product		612492	"ubiquitin specific protease 30"			12838346	Standard	XM_005253962		Approved	MGC10702, FLJ40511	uc010sxi.2	Q70CQ3	OTTHUMG00000133613	ENST00000257548.5:c.735T>G	12.37:g.109519153T>G	ENSP00000257548:p.Phe245Leu					USP30_ENST00000392784.2_Missense_Mutation_p.F214L	p.F245L	NM_032663.3	NP_116052.2	Q70CQ3	UBP30_HUMAN			8	828	+			245					Q8WTU7|Q96JX4|Q9BSS3	Missense_Mutation	SNP	ENST00000257548.5	37	c.735T>G	CCDS9123.2	.	.	.	.	.	.	.	.	.	.	T	17.71	3.457319	0.63401	.	.	ENSG00000135093	ENST00000392784;ENST00000257548	T;T	0.73897	-0.79;-0.79	5.65	-0.572	0.11745	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.056466	0.64402	D	0.000001	T	0.60766	0.2294	L	0.33753	1.03	0.41837	D	0.990105	B	0.15719	0.014	B	0.23150	0.044	T	0.55075	-0.8197	10	0.66056	D	0.02	-18.1283	9.9785	0.41800	0.0:0.4173:0.0:0.5827	.	245	Q70CQ3	UBP30_HUMAN	L	214;245	ENSP00000376535:F214L;ENSP00000257548:F245L	ENSP00000257548:F245L	F	+	3	2	USP30	108003536	0.983000	0.35010	1.000000	0.80357	0.998000	0.95712	0.080000	0.14802	0.096000	0.17463	0.528000	0.53228	TTT		0.353	USP30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257733.2	NM_032663		33	75	0	0	0	1	0	33	75					G	109519153	T	G	109519153	3	3	185	1	0	0	0	0	1	0	0	0	17058	1809	63	5	765	5	USP30	12	109519153	Missense_Mutation	SNP	T	TCGA-G9-7521-01A-11D-2260-08	7048559	109519153	24332742	27	8669											
SMAD9	4093	broad.mit.edu	37	chr13	37427659	37427659	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gctgagcgaagagctggttgTtgaagaccttgaggctgcag	9	9	16	7	1	0	5	0	3	0	2	0	6	0	5	1	2	3	6	1	2	2	3			TCGA-G9-7521-01A-11D-2260-08	TCGA-G9-7521-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74e478ae-4fd2-454f-a0d1-0d2d37527fb8	02ec6811-5ee2-4ebc-9a00-dc60ca0e4bbd	g.chr13:37427659T>C	ENST00000399275.2	-	5	1296	c.1157A>G	c.(1156-1158)aAc>aGc	p.N386S	SMAD9_ENST00000379826.4_Missense_Mutation_p.N386S|SMAD9_ENST00000350148.5_Missense_Mutation_p.N349S			O15198	SMAD9_HUMAN	SMAD family member 9	386	MH2. {ECO:0000255|PROSITE- ProRule:PRU00439}.				BMP signaling pathway (GO:0030509)|bone development (GO:0060348)|cartilage development (GO:0051216)|cellular response to organic cyclic compound (GO:0071407)|hindbrain development (GO:0030902)|intracellular signal transduction (GO:0035556)|midbrain development (GO:0030901)|Mullerian duct regression (GO:0001880)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|response to hypoxia (GO:0001666)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ureteric bud development (GO:0001657)	cytosol (GO:0005829)|intracellular (GO:0005622)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity (GO:0030618)			NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)	18		Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.184)		all cancers(112;3.38e-07)|Epithelial(112;1.93e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00804)|BRCA - Breast invasive adenocarcinoma(63;0.0129)|GBM - Glioblastoma multiforme(144;0.026)		GAGCTGGTTGTTGAAGACCTT	0.532																																						ENST00000379826.4																			0				NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)	18						c.(1156-1158)aAc>aGc		SMAD family member 9							130	88	102					13																	37427659		2203	4300	6503	SO:0001583	missense	4093				BMP signaling pathway|transforming growth factor beta receptor signaling pathway	cytosol|transcription factor complex	sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity	g.chr13:37427659T>C		CCDS9360.1, CCDS45032.1	13q12-q14	2014-09-17	2006-11-06	2004-05-26	ENSG00000120693	ENSG00000120693		"SMADs"	6774	protein-coding gene	gene with protein product		603295	"MAD, mothers against decapentaplegic homolog 9 (Drosophila)", "SMAD, mothers against DPP homolog 9 (Drosophila)"	MADH6, MADH9		9205116	Standard	NM_001127217		Approved		uc001uvw.3	O15198	OTTHUMG00000016740	ENST00000399275.2:c.1157A>G	13.37:g.37427659T>C	ENSP00000382216:p.Asn386Ser					SMAD9_ENST00000350148.5_Missense_Mutation_p.N349S|SMAD9_ENST00000399275.2_Missense_Mutation_p.N386S	p.N386S	NM_001127217.2	NP_001120689.1	O15198	SMAD9_HUMAN		all cancers(112;3.38e-07)|Epithelial(112;1.93e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00804)|BRCA - Breast invasive adenocarcinoma(63;0.0129)|GBM - Glioblastoma multiforme(144;0.026)	6	1499	-		Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.184)	386			MH2.		A2A2Y6|O14989|Q5TBA1	Missense_Mutation	SNP	ENST00000399275.2	37	c.1157A>G	CCDS45032.1	.	.	.	.	.	.	.	.	.	.	T	16.05	3.012596	0.54468	.	.	ENSG00000120693	ENST00000399275;ENST00000350148;ENST00000379826	D;D;D	0.98807	-5.15;-5.15;-5.15	5.42	4.24	0.50183	SMAD domain-like (1);SMAD/FHA domain (1);SMAD domain, Dwarfin-type (3);	0.041888	0.85682	N	0.000000	D	0.97031	0.9030	L	0.57130	1.785	0.80722	D	1	B;B	0.12630	0.006;0.0	B;B	0.19946	0.007;0.027	D	0.94672	0.7857	10	0.56958	D	0.05	.	10.4555	0.44548	0.0:0.0768:0.0:0.9232	.	349;386	O15198-2;O15198	.;SMAD9_HUMAN	S	386;349;386	ENSP00000382216:N386S;ENSP00000239885:N349S;ENSP00000369154:N386S	ENSP00000239885:N349S	N	-	2	0	SMAD9	36325659	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.045000	0.71020	0.890000	0.36211	0.533000	0.62120	AAC		0.532	SMAD9-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000044525.2	NM_005905		7	44	0	0	0	1	0	7	44					C	37427659	T	C	37427659	3	2	185	1	0	0	0	0	1	0	0	0	14764	1725	60	4	254	4	SMAD9	13	37427659	Missense_Mutation	SNP	T	TCGA-G9-7521-01A-11D-2260-08		37427659	77742219	28	8670											
AKAP11	11215	broad.mit.edu	37	chr13	42874546	42874546	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tagcattcaaaaatttgcagCagatcttgtggaaaaaagtt	16	12	8	5	0	2	1	1	0	1	1	2	2	2	2	0	1	3	4	0	1	6	5			TCGA-G9-7521-01A-11D-2260-08	TCGA-G9-7521-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74e478ae-4fd2-454f-a0d1-0d2d37527fb8	02ec6811-5ee2-4ebc-9a00-dc60ca0e4bbd	g.chr13:42874546C>T	ENST00000025301.2	+	8	1839	c.1664C>T	c.(1663-1665)gCa>gTa	p.A555V		NM_016248.3	NP_057332.1	Q9UKA4	AKA11_HUMAN	A kinase (PRKA) anchor protein 11	555					intracellular signal transduction (GO:0035556)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	protein kinase A binding (GO:0051018)|protein phosphatase 1 binding (GO:0008157)			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(2)	56		Lung NSC(96;1.86e-05)|Prostate(109;0.0165)|Lung SC(185;0.0262)|Breast(139;0.0707)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;0.000365)|GBM - Glioblastoma multiforme(144;0.00116)|BRCA - Breast invasive adenocarcinoma(63;0.19)		AAATTTGCAGCAGATCTTGTG	0.303																																						ENST00000025301.2																			0				breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(2)	56						c.(1663-1665)gCa>gTa		A kinase (PRKA) anchor protein 11							55	59	57					13																	42874546		2182	4292	6474	SO:0001583	missense	11215				intracellular protein kinase cascade	microtubule organizing center	protein kinase A binding|protein phosphatase 1 binding	g.chr13:42874546C>T	AB014529	CCDS9383.1	13q	2012-04-17			ENSG00000023516	ENSG00000023516		"A-kinase anchor proteins", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	369	protein-coding gene	gene with protein product	"AKAP 220", "A-kinase anchoring protein, 220kDa", "protein kinase A anchoring protein 11", "protein phosphatase 1, regulatory subunit 44"	604696				9734811, 8621616	Standard	NM_016248		Approved	KIAA0629, AKAP220, PRKA11, FLJ11304, DKFZp781I12161, PPP1R44	uc001uys.2	Q9UKA4	OTTHUMG00000016805	ENST00000025301.2:c.1664C>T	13.37:g.42874546C>T	ENSP00000025301:p.Ala555Val						p.A555V	NM_016248.3	NP_057332.1	Q9UKA4	AKA11_HUMAN		OV - Ovarian serous cystadenocarcinoma(117;0.000365)|GBM - Glioblastoma multiforme(144;0.00116)|BRCA - Breast invasive adenocarcinoma(63;0.19)	8	1839	+		Lung NSC(96;1.86e-05)|Prostate(109;0.0165)|Lung SC(185;0.0262)|Breast(139;0.0707)|Hepatocellular(98;0.114)	555					O75124|Q9NUK7	Missense_Mutation	SNP	ENST00000025301.2	37	c.1664C>T	CCDS9383.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.110601	0.77210	.	.	ENSG00000023516	ENST00000025301	T	0.16743	2.32	5.5	5.5	0.81552	.	0.445064	0.23400	N	0.048587	T	0.26195	0.0639	L	0.57536	1.79	0.40029	D	0.9755	P	0.38827	0.649	B	0.40940	0.344	T	0.02661	-1.1127	10	0.66056	D	0.02	.	19.7429	0.96238	0.0:1.0:0.0:0.0	.	555	Q9UKA4	AKA11_HUMAN	V	555	ENSP00000025301:A555V	ENSP00000025301:A555V	A	+	2	0	AKAP11	41772546	1.000000	0.71417	0.998000	0.56505	0.929000	0.56500	5.705000	0.68355	2.734000	0.93682	0.484000	0.47621	GCA		0.303	AKAP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044700.2	NM_016248		9	32	0	0	0	1	0	9	32					T	42874546	C	T	42874546	3	4	185	1	0	0	0	0	1	0	0	0	447	710	25	3	1686	3	AKAP11	13	42874546	Missense_Mutation	SNP	C	TCGA-G9-7521-01A-11D-2260-08	5446887	42874546	72295332	29	8671											
UBR7	55148	broad.mit.edu	37	chr14	93684961	93684961	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atcaaacctgaaaatggagaGcatcaagatagtaccctcaa	18	7	7	9	0	3	3	3	1	0	2	3	4	3	3	2	1	3	2	2	1	7	2			TCGA-G9-7521-01A-11D-2260-08	TCGA-G9-7521-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74e478ae-4fd2-454f-a0d1-0d2d37527fb8	02ec6811-5ee2-4ebc-9a00-dc60ca0e4bbd	g.chr14:93684961G>A	ENST00000013070.6	+	7	926	c.690G>A	c.(688-690)gaG>gaA	p.E230E	UBR7_ENST00000416753.1_Silent_p.E154E	NM_175748.3	NP_786924.2	Q8N806	UBR7_HUMAN	ubiquitin protein ligase E3 component n-recognin 7 (putative)	230							ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|large_intestine(2)|lung(12)|urinary_tract(1)	19						AAAATGGAGAGCATCAAGATA	0.443																																						ENST00000013070.6																			0				breast(2)|endometrium(2)|large_intestine(2)|lung(12)|urinary_tract(1)	19						c.(688-690)gaG>gaA		ubiquitin protein ligase E3 component n-recognin 7 (putative)							116	102	107					14																	93684961		2203	4300	6503	SO:0001819	synonymous_variant	55148						ubiquitin-protein ligase activity|zinc ion binding	g.chr14:93684961G>A	AK001345	CCDS9909.1	14q32.12	2008-06-23	2008-06-23	2008-06-23		ENSG00000012963		"Ubiquitin protein ligase E3 component n-recognins"	20344	protein-coding gene	gene with protein product		613816	"chromosome 14 open reading frame 130"	C14orf130		18162545	Standard	NM_175748		Approved		uc001ybm.4	Q8N806		ENST00000013070.6:c.690G>A	14.37:g.93684961G>A						UBR7_ENST00000416753.1_Silent_p.E154E	p.E230E	NM_175748.3	NP_786924.2	Q8N806	UBR7_HUMAN			7	926	+			230					Q86U21|Q86UA9|Q96BY0|Q9NVV6	Silent	SNP	ENST00000013070.6	37	c.690G>A	CCDS9909.1																																																																																				0.443	UBR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412693.1	NM_175748		3	126	0	0	0	1	0	3	126					A	93684961	G	A	93684961	2	1	185	1	0	0	0	0	0	0	0	1	16903	962	34	3		3	UBR7	14	93684961	Silent	SNP	G	TCGA-G9-7521-01A-11D-2260-08		93684961	13664579	30	8672											
MEFV	4210	broad.mit.edu	37	chr16	3299469	3299469	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctcctcaatggggcgcacccGgtggccttggtgctcctgac	4	9	13	15	2	1	1	1	1	0	0	3	1	3	1	4	5	1	2	4	5	1	1			TCGA-G9-7521-01A-11D-2260-08	TCGA-G9-7521-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74e478ae-4fd2-454f-a0d1-0d2d37527fb8	02ec6811-5ee2-4ebc-9a00-dc60ca0e4bbd	g.chr16:3299469G>A	ENST00000219596.1	-	3	1261	c.1222C>T	c.(1222-1224)Cgg>Tgg	p.R408W	MEFV_ENST00000536379.1_Missense_Mutation_p.R197W|MEFV_ENST00000339854.4_Missense_Mutation_p.R228W|MEFV_ENST00000541159.1_Missense_Mutation_p.R197W	NM_000243.2	NP_000234.1	O15553	MEFV_HUMAN	Mediterranean fever	408			R -> Q (in arFMF; associated with Q-148 and S-369 in cis; dbSNP:rs11466024). {ECO:0000269|PubMed:10364520, ECO:0000269|PubMed:23505238}.		inflammatory response (GO:0006954)|innate immune response (GO:0045087)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 beta production (GO:0032691)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of macrophage inflammatory protein 1 alpha production (GO:0071641)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of cysteine-type endopeptidase activity (GO:2001056)	cell projection (GO:0042995)|cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|nucleus (GO:0005634)	actin binding (GO:0003779)|zinc ion binding (GO:0008270)			NS(2)|biliary_tract(1)|breast(5)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(3)|prostate(1)|skin(6)	50						GGGCGCACCCGGTGGCCTTGG	0.602																																						ENST00000219596.1																			0				NS(2)|biliary_tract(1)|breast(5)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(3)|prostate(1)|skin(6)	50						c.(1222-1224)Cgg>Tgg		Mediterranean fever	Colchicine(DB01394)						59	56	57					16																	3299469		2197	4300	6497	SO:0001583	missense	4210				inflammatory response	cytoplasm|microtubule|microtubule associated complex|nucleus	actin binding|zinc ion binding	g.chr16:3299469G>A	AF018080	CCDS10498.1, CCDS55981.1	16p13.3	2014-09-17			ENSG00000103313	ENSG00000103313		"Tripartite motif containing / Tripartite motif containing"	6998	protein-coding gene	gene with protein product	"pyrin"	608107		MEF		9288094	Standard	NM_000243		Approved	FMF, TRIM20	uc002cun.1	O15553	OTTHUMG00000129324	ENST00000219596.1:c.1222C>T	16.37:g.3299469G>A	ENSP00000219596:p.Arg408Trp					MEFV_ENST00000339854.4_Missense_Mutation_p.R228W|MEFV_ENST00000536379.1_Missense_Mutation_p.R197W|MEFV_ENST00000541159.1_Missense_Mutation_p.R197W	p.R408W	NM_000243.2	NP_000234.1	O15553	MEFV_HUMAN			3	1261	-			408		R -> Q (in arFMF; associated with Q-148 and S-369 in cis; could be a polymorphism; dbSNP:rs11466024).			D3DUC0|F5H0Q3|Q3MJ84|Q96PN4|Q96PN5	Missense_Mutation	SNP	ENST00000219596.1	37	c.1222C>T	CCDS10498.1	.	.	.	.	.	.	.	.	.	.	G	4.456	0.084377	0.08583	.	.	ENSG00000103313	ENST00000545159;ENST00000219596;ENST00000339854;ENST00000541159;ENST00000536379;ENST00000534868	T;T;T;T	0.46819	0.86;0.86;0.86;0.86	5.35	1.3	0.21679	Zinc finger, B-box (3);	1.038830	0.07601	N	0.923697	T	0.49508	0.1561	M	0.81239	2.535	0.21355	N	0.999718	B	0.22800	0.075	B	0.19946	0.027	T	0.45687	-0.9244	10	0.49607	T	0.09	-10.0735	7.4279	0.27109	0.3397:0.0:0.6603:0.0	.	408	O15553	MEFV_HUMAN	W	408;408;228;197;197;197	ENSP00000219596:R408W;ENSP00000339639:R228W;ENSP00000438711:R197W;ENSP00000445079:R197W	ENSP00000219596:R408W	R	-	1	2	MEFV	3239470	0.002000	0.14202	0.092000	0.20876	0.001000	0.01503	-0.120000	0.10660	0.205000	0.20568	-0.742000	0.03525	CGG		0.602	MEFV-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251464.1	NM_000243		30	59	0	0	0	1	0	30	59					A	3299469	G	A	3299469	3	1	185	1	0	0	0	0	1	0	0	0	9459	1115	39	2	1155	2	MEFV	16	3299469	Missense_Mutation	SNP	G	TCGA-G9-7521-01A-11D-2260-08		3299469	87055284	31	8673											
TP53	7157	broad.mit.edu	37	chr17	7577085	7577085	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cttgcggagattctcttcctCtgtgcgccggtctctcccag	3	13	10	15	3	3	1	0	0	3	1	7	2	5	1	3	2	2	0	3	2	0	3	rs112431538		TCGA-G9-7521-01A-11D-2260-08	TCGA-G9-7521-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74e478ae-4fd2-454f-a0d1-0d2d37527fb8	02ec6811-5ee2-4ebc-9a00-dc60ca0e4bbd	g.chr17:7577085C>T	ENST00000269305.4	-	8	1042	c.853G>A	c.(853-855)Gag>Aag	p.E285K	TP53_ENST00000455263.2_Missense_Mutation_p.E285K|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000420246.2_Missense_Mutation_p.E285K|TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Missense_Mutation_p.E285K|TP53_ENST00000359597.4_Missense_Mutation_p.E285K	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	285	Interaction with AXIN1. {ECO:0000250}.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		E -> A (in a sporadic cancer; somatic mutation).|E -> D (in sporadic cancers; somatic mutation).|E -> G (in sporadic cancers; somatic mutation).|E -> K (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1459726, ECO:0000269|PubMed:1694291}.|E -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation).|E -> V (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.E285K(111)|p.E285*(24)|p.0?(8)|p.E285Q(4)|p.?(2)|p.R283fs*16(2)|p.C275fs*20(1)|p.R282_E287delRRTEEE(1)|p.L265_K305del41(1)|p.T284fs*57(1)|p.T284_G293del10(1)|p.E285_L289delEEENL(1)|p.E285fs*60(1)|p.G279fs*59(1)|p.R283fs*56(1)|p.E285fs*20(1)|p.E285fs*13(1)|p.R283fs*59(1)|p.V272_K292del21(1)|p.E285_N288delEEEN(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	TTCTCTTCCTCTGTGCGCCGG	0.562		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"Mis, N, F"	tumor protein p53			"L, E, M, O"		"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"	"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"		165	Substitution - Missense(115)|Substitution - Nonsense(24)|Deletion - Frameshift(10)|Whole gene deletion(8)|Deletion - In frame(6)|Unknown(2)	p.E285K(111)|p.E285*(24)|p.0?(8)|p.E285Q(4)|p.?(2)|p.R283fs*16(2)|p.C275fs*20(1)|p.R282_E287delRRTEEE(1)|p.L265_K305del41(1)|p.T284fs*57(1)|p.T284_G293del10(1)|p.E285_L289delEEENL(1)|p.E285fs*60(1)|p.G279fs*59(1)|p.R283fs*56(1)|p.E285fs*20(1)|p.E285fs*13(1)|p.R283fs*59(1)|p.V272_K292del21(1)|p.E285_N288delEEEN(1)	urinary_tract(53)|breast(18)|large_intestine(15)|lung(11)|upper_aerodigestive_tract(10)|stomach(8)|haematopoietic_and_lymphoid_tissue(8)|central_nervous_system(6)|oesophagus(6)|liver(6)|skin(5)|prostate(4)|bone(4)|biliary_tract(3)|ovary(3)|adrenal_gland(1)|soft_tissue(1)|eye(1)|pancreas(1)|thyroid(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185	GRCh37	CM995136	TP53	M	rs112431538	c.(853-855)Gag>Aag	Other conserved DNA damage response genes	tumor protein p53							91	78	82					17																	7577085		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577085C>T	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"Li-Fraumeni syndrome"	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.853G>A	17.37:g.7577085C>T	ENSP00000269305:p.Glu285Lys	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_ENST00000413465.2_Intron|TP53_ENST00000269305.4_Missense_Mutation_p.E285K|TP53_ENST00000455263.2_Missense_Mutation_p.E285K|TP53_ENST00000445888.2_Missense_Mutation_p.E285K|TP53_ENST00000359597.4_Missense_Mutation_p.E285K	p.E285K	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	8	985	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	285		E -> A (in a sporadic cancer; somatic mutation).|E -> D (in sporadic cancers; somatic mutation).|E -> G (in sporadic cancers; somatic mutation).|E -> K (in sporadic cancers; somatic mutation).|E -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation).|E -> V (in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.853G>A	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	26.1	4.703759	0.88924	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99816	-6.91;-6.91;-6.91;-6.91;-6.91;-6.91	4.99	4.99	0.66335	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99843	0.9928	M	0.89904	3.07	0.58432	D	0.999999	D;D;D;D	0.89917	1.0;0.998;1.0;1.0	D;D;D;D	0.87578	0.994;0.983;0.994;0.998	D	0.96661	0.9489	10	0.87932	D	0	-38.0538	15.807	0.78520	0.0:1.0:0.0:0.0	.	285;285;285;285	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	K	285;285;285;285;285;274;153	ENSP00000352610:E285K;ENSP00000269305:E285K;ENSP00000398846:E285K;ENSP00000391127:E285K;ENSP00000391478:E285K;ENSP00000425104:E153K	ENSP00000269305:E285K	E	-	1	0	TP53	7517810	1.000000	0.71417	0.900000	0.35374	0.716000	0.41182	7.587000	0.82613	2.579000	0.87056	0.462000	0.41574	GAG		0.562	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		21	26	0	0	0	1	0	21	26					T	7577085	C	T	7577085	3	4	185	1	0	0	0	0	1	0	0	0	16378	922	32	3	433	3	TP53	17	7577085	Missense_Mutation	SNP	C	TCGA-G9-7521-01A-11D-2260-08		7577085	73618125	32	8674											
WSB1	26118	broad.mit.edu	37	chr17	25639358	25639358	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agttcaggagctgccgattcCttccaagcttttggagtttc	7	14	10	10	1	1	0	1	0	0	0	4	3	3	2	3	2	3	4	3	2	1	6			TCGA-G9-7521-01A-11D-2260-08	TCGA-G9-7521-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74e478ae-4fd2-454f-a0d1-0d2d37527fb8	02ec6811-5ee2-4ebc-9a00-dc60ca0e4bbd	g.chr17:25639358C>T	ENST00000262394.2	+	9	1545	c.1229C>T	c.(1228-1230)cCt>cTt	p.P410L	RP11-173M1.8_ENST00000578929.1_lincRNA|WSB1_ENST00000348811.2_Missense_Mutation_p.P264L	NM_015626.8	NP_056441.6	Q9Y6I7	WSB1_HUMAN	WD repeat and SOCS box containing 1	410	SOCS box. {ECO:0000255|PROSITE- ProRule:PRU00194}.				intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)	intracellular (GO:0005622)				lung(3)	3	all_cancers(1;2e-13)|all_epithelial(1;4.8e-15)|Lung NSC(42;0.00152)		BRCA - Breast invasive adenocarcinoma(3;0.0152)	UCEC - Uterine corpus endometrioid carcinoma (53;0.154)		CTGCCGATTCCTTCCAAGCTT	0.473																																						ENST00000262394.2																			0				lung(3)	3						c.(1228-1230)cCt>cTt		WD repeat and SOCS box containing 1							276	263	267					17																	25639358		2203	4300	6503	SO:0001583	missense	26118				intracellular signal transduction	intracellular	protein binding	g.chr17:25639358C>T	AF069313	CCDS11220.1, CCDS11221.1	17q11.2	2013-01-09	2011-01-25		ENSG00000109046	ENSG00000109046		"WD repeat domain containing"	19221	protein-coding gene	gene with protein product		610091	"WD repeat and SOCS box-containing 1"			10354473, 12076535	Standard	XR_243778		Approved	DKFZp564A122, DKFZp564B0482, SWIP1	uc002gzd.1	Q9Y6I7	OTTHUMG00000132293	ENST00000262394.2:c.1229C>T	17.37:g.25639358C>T	ENSP00000262394:p.Pro410Leu					WSB1_ENST00000348811.2_Missense_Mutation_p.P264L	p.P410L	NM_015626.8	NP_056441.6	Q9Y6I7	WSB1_HUMAN	BRCA - Breast invasive adenocarcinoma(3;0.0152)	UCEC - Uterine corpus endometrioid carcinoma (53;0.154)	9	1545	+	all_cancers(1;2e-13)|all_epithelial(1;4.8e-15)|Lung NSC(42;0.00152)		410			SOCS box.		Q9NRB1|Q9UBH9|Q9UG25|Q9UNN6|Q9Y656	Missense_Mutation	SNP	ENST00000262394.2	37	c.1229C>T	CCDS11220.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.061040	0.76074	.	.	ENSG00000109046	ENST00000262394;ENST00000348811	D;D	0.88896	-2.44;-2.44	5.91	5.91	0.95273	SOCS protein, C-terminal (4);	0.000000	0.64402	D	0.000001	D	0.96731	0.8933	H	0.97051	3.93	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.97181	0.9851	10	0.59425	D	0.04	-13.5756	19.2867	0.94077	0.0:1.0:0.0:0.0	.	264;410	Q9Y6I7-2;Q9Y6I7	.;WSB1_HUMAN	L	410;264	ENSP00000262394:P410L;ENSP00000327055:P264L	ENSP00000262394:P410L	P	+	2	0	WSB1	22663485	1.000000	0.71417	1.000000	0.80357	0.349000	0.29174	7.325000	0.79124	2.793000	0.96121	0.655000	0.94253	CCT		0.473	WSB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255391.4	NM_015626		5	271	0	0	0	1	0	5	271					T	25639358	C	T	25639358	3	4	185	1	0	0	0	0	1	0	0	0	17401	681	24	3	1263	3	WSB1	17	25639358	Missense_Mutation	SNP	C	TCGA-G9-7521-01A-11D-2260-08	18062273	25639358	55555852	33	8675											
PSME3	10197	broad.mit.edu	37	chr17	40986805	40986805	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaggaaccaatcttaaacaTccatgacctaactcagatcc	15	9	4	13	0	3	2	2	1	1	1	5	3	5	3	4	1	3	0	4	1	5	2			TCGA-G9-7521-01A-11D-2260-08	TCGA-G9-7521-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74e478ae-4fd2-454f-a0d1-0d2d37527fb8	02ec6811-5ee2-4ebc-9a00-dc60ca0e4bbd	g.chr17:40986805T>G	ENST00000590720.1	+	4	388	c.155T>G	c.(154-156)aTc>aGc	p.I52S	PSME3_ENST00000592578.1_3'UTR|PSME3_ENST00000293362.3_Missense_Mutation_p.I52S|PSME3_ENST00000592169.1_Intron|PSME3_ENST00000441946.2_Missense_Mutation_p.I63S|PSME3_ENST00000545225.1_De_novo_Start_InFrame|PSME3_ENST00000541124.1_3'UTR			P61289	PSME3_HUMAN	proteasome (prosome, macropain) activator subunit 3 (PA28 gamma; Ki)	52					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of endopeptidase activity (GO:0010950)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of proteasomal protein catabolic process (GO:0061136)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome activator complex (GO:0008537)|proteasome complex (GO:0000502)	endopeptidase activator activity (GO:0061133)|MDM2/MDM4 family protein binding (GO:0097371)|p53 binding (GO:0002039)			NS(1)|cervix(1)|large_intestine(3)|lung(1)	6		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.156)		ATCTTAAACATCCATGACCTA	0.418																																						ENST00000293362.3																			0				NS(1)|cervix(1)|large_intestine(3)|lung(1)	6						c.(154-156)aTc>aGc		proteasome (prosome, macropain) activator subunit 3 (PA28 gamma; Ki)							173	147	156					17																	40986805		2203	4300	6503	SO:0001583	missense	10197				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of proteasomal protein catabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome activator complex	endopeptidase activator activity|identical protein binding|MDM2 binding|p53 binding	g.chr17:40986805T>G	U11292	CCDS11442.1, CCDS45689.1, CCDS59290.1	17q12-q21	2004-02-17				ENSG00000131467		"Proteasome (prosome, macropain) subunits"	9570	protein-coding gene	gene with protein product		605129				7951316	Standard	NM_005789		Approved	Ki, PA28-gamma, REG-GAMMA, PA28G	uc002ibq.4	P61289		ENST00000590720.1:c.155T>G	17.37:g.40986805T>G	ENSP00000466794:p.Ile52Ser					PSME3_ENST00000592578.1_3'UTR|PSME3_ENST00000545225.1_De_novo_Start_InFrame|PSME3_ENST00000590720.1_Missense_Mutation_p.I52S|PSME3_ENST00000541124.1_3'UTR|PSME3_ENST00000592169.1_Intron|PSME3_ENST00000441946.2_Missense_Mutation_p.I63S	p.I52S	NM_005789.3|NM_176863.2	NP_005780.2|NP_789839.1	P61289	PSME3_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.156)	4	316	+		Breast(137;0.000143)	52					A8K9A3|O35563|P97373|Q12920|Q13172|Q9BQD9	Missense_Mutation	SNP	ENST00000590720.1	37	c.155T>G	CCDS45689.1	.	.	.	.	.	.	.	.	.	.	T	9.005	0.981031	0.18812	.	.	ENSG00000131467	ENST00000293362;ENST00000441946;ENST00000543428	T;T	0.49432	0.78;0.78	5.5	3.25	0.37280	Proteasome activator pa28, REG alpha subunit (2);	0.408525	0.26525	N	0.023887	T	0.37433	0.1003	L	0.50333	1.59	0.80722	D	1	B;B;B	0.30973	0.175;0.175;0.302	B;B;B	0.29440	0.102;0.102;0.099	T	0.07908	-1.0748	10	0.22109	T	0.4	-13.2154	9.0196	0.36191	0.1245:0.0:0.1309:0.7446	.	52;52;52	Q6FHK7;P61289;P61289-2	.;PSME3_HUMAN;.	S	52	ENSP00000293362:I52S;ENSP00000437924:I52S	ENSP00000293362:I52S	I	+	2	0	PSME3	38240331	1.000000	0.71417	1.000000	0.80357	0.380000	0.30137	7.868000	0.87116	0.484000	0.27630	-0.344000	0.07964	ATC		0.418	PSME3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452430.1	NM_176863		25	82	0	0	0	1	0	25	82					G	40986805	T	G	40986805	3	3	185	1	0	0	0	0	1	0	0	0	12708	1435	50	5	169	5	PSME3	17	40986805	Missense_Mutation	SNP	T	TCGA-G9-7521-01A-11D-2260-08	15347447	40986805	40208405	34	8676											
TMC8	147138	broad.mit.edu	37	chr17	76128481	76128481	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtcctacttcaccttcctcCgcttcctgctgctactcaac	5	13	5	18	1	2	0	2	0	0	0	6	0	6	0	5	1	5	3	5	1	3	5			TCGA-G9-7521-01A-11D-2260-08	TCGA-G9-7521-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74e478ae-4fd2-454f-a0d1-0d2d37527fb8	02ec6811-5ee2-4ebc-9a00-dc60ca0e4bbd	g.chr17:76128481C>G	ENST00000318430.5	+	4	714	c.340C>G	c.(340-342)Cgc>Ggc	p.R114G	TMC6_ENST00000322914.3_5'UTR|TMC8_ENST00000589691.1_5'UTR	NM_152468.4	NP_689681.2	Q8IU68	TMC8_HUMAN	transmembrane channel-like 8	114					ion transport (GO:0006811)|negative regulation of protein binding (GO:0032091)|negative regulation of protein oligomerization (GO:0032460)|regulation of cell growth (GO:0001558)|regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902041)|zinc ion homeostasis (GO:0055069)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965)	receptor binding (GO:0005102)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	12			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)|OV - Ovarian serous cystadenocarcinoma(97;0.192)			CACCTTCCTCCGCTTCCTGCT	0.687																																						ENST00000318430.5																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	12						c.(340-342)Cgc>Ggc		transmembrane channel-like 8							55	42	46					17																	76128481		2202	4300	6502	SO:0001583	missense	147138					endoplasmic reticulum membrane|integral to membrane		g.chr17:76128481C>G	AY057380	CCDS32749.1	17q25.3	2014-09-17	2005-11-10	2005-11-10	ENSG00000167895	ENSG00000167895			20474	protein-coding gene	gene with protein product		605829	"epidermodysplasia verruciformis 2"	EVER2		12426567	Standard	NM_152468		Approved	EVIN2	uc002jup.2	Q8IU68		ENST00000318430.5:c.340C>G	17.37:g.76128481C>G	ENSP00000325561:p.Arg114Gly					TMC6_ENST00000322914.3_5'UTR|TMC8_ENST00000589691.1_5'UTR	p.R114G	NM_152468.4	NP_689681.2	Q8IU68	TMC8_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)|OV - Ovarian serous cystadenocarcinoma(97;0.192)		4	714	+			114					Q2YDC0|Q8IWU7|Q8N358|Q8NF04	Missense_Mutation	SNP	ENST00000318430.5	37	c.340C>G	CCDS32749.1	.	.	.	.	.	.	.	.	.	.	C	17.09	3.300893	0.60195	.	.	ENSG00000167895	ENST00000318430;ENST00000301627	T	0.61274	0.12	4.28	4.28	0.50868	.	0.258257	0.36665	N	0.002461	T	0.74442	0.3717	M	0.83603	2.65	0.80722	D	1	D	0.76494	0.999	D	0.79784	0.993	T	0.77670	-0.2501	10	0.87932	D	0	-26.8287	9.4676	0.38822	0.2114:0.7886:0.0:0.0	.	114	Q8IU68	TMC8_HUMAN	G	114	ENSP00000325561:R114G	ENSP00000301627:R114G	R	+	1	0	TMC8	73640076	0.067000	0.21026	0.970000	0.41538	0.796000	0.44982	0.313000	0.19415	2.221000	0.72209	0.561000	0.74099	CGC		0.687	TMC8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436900.3			11	32	0	0	0	1	0	11	32					G	76128481	C	G	76128481	3	3	185	1	0	0	0	0	1	0	0	0	15988	652	23	5	350	5	TMC8	17	76128481	Missense_Mutation	SNP	C	TCGA-G9-7521-01A-11D-2260-08	35141676	76128481	5066729	35	8677											
KIAA0802	23255	broad.mit.edu	37	chr18	8824763	8824763	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atctcccccttcctgcctgaGaagggcctgccgtccaccag	6	8	9	18	1	1	1	0	1	1	1	4	2	3	1	8	1	2	0	8	1	1	1			TCGA-G9-7521-01A-11D-2260-08	TCGA-G9-7521-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74e478ae-4fd2-454f-a0d1-0d2d37527fb8	02ec6811-5ee2-4ebc-9a00-dc60ca0e4bbd	g.chr18:8824763G>A	ENST00000306329.11	+	13	4212	c.4212G>A	c.(4210-4212)gaG>gaA	p.E1404E	SOGA2_ENST00000518815.1_Silent_p.E410E|SOGA2_ENST00000400050.3_Silent_p.E1044E|SOGA2_ENST00000359865.3_Silent_p.E1085E|SOGA2_ENST00000517570.1_Silent_p.E1044E|SOGA2_ENST00000306285.7_Silent_p.E410E																							TCCTGCCTGAGAAGGGCCTGC	0.572																																						ENST00000359865.3																			0											c.(3253-3255)gaG>gaA		SOGA family member 2							73	56	62					18																	8824763		2203	4300	6503	SO:0001819	synonymous_variant	23255							g.chr18:8824763G>A																												ENST00000306329.11:c.4212G>A	18.37:g.8824763G>A						SOGA2_ENST00000306285.7_Silent_p.E410E|SOGA2_ENST00000517570.1_Silent_p.E1044E|SOGA2_ENST00000306329.11_Silent_p.E1404E|SOGA2_ENST00000400050.3_Silent_p.E1044E|SOGA2_ENST00000518815.1_Silent_p.E410E	p.E1085E	NM_015210.3	NP_056025.2	Q9Y4B5	CC165_HUMAN			15	3397	+			1395						Silent	SNP	ENST00000306329.11	37	c.3255G>A																																																																																					0.572	SOGA2-015	PUTATIVE	basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000444141.1			23	57	0	0	0	1	0	23	57					A	8824763	G	A	8824763	2	1	185	1	0	0	0	0	0	0	0	1	8194	933	33	3		3	KIAA0802	18	8824763	Silent	SNP	G	TCGA-G9-7521-01A-11D-2260-08		8824763	69252485	36	8678											
DSEL	92126	broad.mit.edu	37	chr18	65179168	65179168	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atgagtcgatttccaactcaGtttcaggaatatcaatgtag	13	13	8	7	1	3	1	3	1	0	0	5	3	4	2	1	1	1	2	1	1	5	4			TCGA-G9-7521-01A-11D-2260-08	TCGA-G9-7521-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74e478ae-4fd2-454f-a0d1-0d2d37527fb8	02ec6811-5ee2-4ebc-9a00-dc60ca0e4bbd	g.chr18:65179168G>T	ENST00000310045.7	-	2	4181	c.2708C>A	c.(2707-2709)aCt>aAt	p.T903N	CTD-2541J13.2_ENST00000581951.1_RNA|CTD-2541J13.2_ENST00000583493.1_RNA	NM_032160.2	NP_115536.1	Q8IZU8	DSEL_HUMAN	dermatan sulfate epimerase-like	893					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	isomerase activity (GO:0016853)|sulfotransferase activity (GO:0008146)			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(25)|lung(23)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)				TTCCAACTCAGTTTCAGGAAT	0.418																																						ENST00000310045.7																			0				NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(25)|lung(23)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	74						c.(2707-2709)aCt>aAt		dermatan sulfate epimerase-like							88	88	88					18																	65179168		2203	4300	6503	SO:0001583	missense	92126					integral to membrane	isomerase activity|sulfotransferase activity	g.chr18:65179168G>T	AF480435	CCDS11995.1	18q22.1	2007-01-29	2007-01-29	2007-01-29	ENSG00000171451	ENSG00000171451			18144	protein-coding gene	gene with protein product		611125	"chromosome 18 open reading frame 4"	C18orf4		16505484	Standard	NM_032160		Approved	NCAG1, FLJ11477	uc002lke.1	Q8IZU8	OTTHUMG00000132804	ENST00000310045.7:c.2708C>A	18.37:g.65179168G>T	ENSP00000310565:p.Thr903Asn					CTD-2541J13.2_ENST00000583493.1_RNA	p.T903N	NM_032160.2	NP_115536.1	Q8IZU8	DSEL_HUMAN			2	4181	-		Esophageal squamous(42;0.129)	893					Q17RH1|Q6P5Z3	Missense_Mutation	SNP	ENST00000310045.7	37	c.2708C>A	CCDS11995.1	.	.	.	.	.	.	.	.	.	.	G	16.44	3.125300	0.56721	.	.	ENSG00000171451	ENST00000310045;ENST00000397964	T	0.22743	1.94	5.13	5.13	0.70059	Sulfotransferase domain (1);	0.328310	0.31624	N	0.007338	T	0.27663	0.0680	L	0.50333	1.59	0.32563	N	0.530866	P	0.52577	0.954	P	0.48368	0.575	T	0.32428	-0.9907	10	0.44086	T	0.13	-18.8449	14.2941	0.66300	0.0:0.2736:0.7264:0.0	.	893	Q8IZU8	DSEL_HUMAN	N	903;893	ENSP00000310565:T903N	ENSP00000310565:T903N	T	-	2	0	DSEL	63330148	1.000000	0.71417	0.998000	0.56505	0.984000	0.73092	5.215000	0.65241	2.384000	0.81235	0.563000	0.77884	ACT		0.418	DSEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256221.1	NM_032160		15	48	1	0	6.72482e-11	1	7.33617e-11	15	48					T	65179168	G	T	65179168	3	4	185	1	0	0	0	0	1	0	0	0	4775	1029	36	5	964	5	DSEL	18	65179168	Missense_Mutation	SNP	G	TCGA-G9-7521-01A-11D-2260-08	56354405	65179168	12898080	37	8679											
ARID3A	1820	broad.mit.edu	37	chr19	964321	964321	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atgctgtacgtgctggtgacGgagaagggcggcctcgtgga	7	8	18	8	4	0	2	0	1	0	1	1	4	0	3	1	5	3	3	1	5	2	1			TCGA-G9-7521-01A-11D-2260-08	TCGA-G9-7521-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74e478ae-4fd2-454f-a0d1-0d2d37527fb8	02ec6811-5ee2-4ebc-9a00-dc60ca0e4bbd	g.chr19:964321G>A	ENST00000263620.3	+	5	1167	c.840G>A	c.(838-840)acG>acA	p.T280T		NM_005224.2	NP_005215.1	Q99856	ARI3A_HUMAN	AT rich interactive domain 3A (BRIGHT-like)	280	ARID. {ECO:0000255|PROSITE- ProRule:PRU00355}.					cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane raft (GO:0045121)|nucleolus (GO:0005730)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(1)	10		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TGCTGGTGACGGAGAAGGGCG	0.607																																					Pancreas(29;54 1022 32760 50921)	ENST00000263620.3																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(1)	10						c.(838-840)acG>acA		AT rich interactive domain 3A (BRIGHT-like)							157	118	131					19																	964321		2203	4299	6502	SO:0001819	synonymous_variant	1820					cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr19:964321G>A	U88047	CCDS12050.1	19p13.3	2013-02-07	2006-11-08	2004-01-30		ENSG00000116017		"-"	3031	protein-coding gene	gene with protein product		603265	"dead ringer-like 1 (Drosophila)", "AT rich interactive domain 3A (BRIGHT- like)"	DRIL1		9722953	Standard	NM_005224		Approved	BRIGHT	uc002lql.3	Q99856		ENST00000263620.3:c.840G>A	19.37:g.964321G>A							p.T280T	NM_005224.2	NP_005215.1	Q99856	ARI3A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	5	1167	+		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)	280			ARID.		Q5I858|Q6P9C6|Q8IZA7|Q8N4Z3	Silent	SNP	ENST00000263620.3	37	c.840G>A	CCDS12050.1																																																																																				0.607	ARID3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458219.1	NM_005224		3	73	0	0	0	1	0	3	73					A	964321	G	A	964321	2	1	185	1	0	0	0	0	0	0	0	1	916	1103	39	2		2	ARID3A	19	964321	Silent	SNP	G	TCGA-G9-7521-01A-11D-2260-08		964321	58164662	38	8680											
FEM1A	55527	broad.mit.edu	37	chr19	4792557	4792557	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgacgggccacaccaacatcGtggagtacctcatccaggag	11	6	11	13	2	1	1	1	1	0	0	3	3	2	3	4	3	2	1	4	3	2	1			TCGA-G9-7521-01A-11D-2260-08	TCGA-G9-7521-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74e478ae-4fd2-454f-a0d1-0d2d37527fb8	02ec6811-5ee2-4ebc-9a00-dc60ca0e4bbd	g.chr19:4792557G>A	ENST00000269856.3	+	1	830	c.691G>A	c.(691-693)Gtg>Atg	p.V231M	AC005523.2_ENST00000601192.1_RNA|AC005523.3_ENST00000598782.1_lincRNA|AC005523.2_ENST00000596170.1_RNA	NM_018708.2	NP_061178.1	Q9BSK4	FEM1A_HUMAN	fem-1 homolog a (C. elegans)	231					negative regulation of inflammatory response (GO:0050728)|regulation of ubiquitin-protein transferase activity (GO:0051438)	cytoplasm (GO:0005737)	EP4 subtype prostaglandin E2 receptor binding (GO:0031867)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	17		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0139)		CACCAACATCGTGGAGTACCT	0.687																																						ENST00000269856.3																			0				breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	17						c.(691-693)Gtg>Atg		fem-1 homolog a (C. elegans)							24	28	26					19																	4792557		2197	4282	6479	SO:0001583	missense	55527				regulation of ubiquitin-protein ligase activity	cytoplasm	binding|ubiquitin-protein ligase activity	g.chr19:4792557G>A	BC004988	CCDS12135.1	19p13.3	2013-01-10	2006-11-08		ENSG00000141965	ENSG00000141965		"Ankyrin repeat domain containing"	16934	protein-coding gene	gene with protein product		613538				11441184	Standard	NM_018708		Approved		uc002mbf.3	Q9BSK4		ENST00000269856.3:c.691G>A	19.37:g.4792557G>A	ENSP00000269856:p.Val231Met					AC005523.2_ENST00000601192.1_RNA	p.V231M	NM_018708.2	NP_061178.1	Q9BSK4	FEM1A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0139)	1	830	+		Hepatocellular(1079;0.137)	231					B2RDI3|Q711P8|Q9NPN7|Q9NPW8	Missense_Mutation	SNP	ENST00000269856.3	37	c.691G>A	CCDS12135.1	.	.	.	.	.	.	.	.	.	.	G	17.37	3.373339	0.61624	.	.	ENSG00000141965	ENST00000269856	T	0.69040	-0.37	4.89	4.89	0.63831	Ankyrin repeat-containing domain (3);	0.000000	0.64402	U	0.000006	T	0.81240	0.4781	M	0.72624	2.21	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.81949	-0.0699	10	0.46703	T	0.11	-12.1219	18.0629	0.89382	0.0:0.0:1.0:0.0	.	231	Q9BSK4	FEM1A_HUMAN	M	231	ENSP00000269856:V231M	ENSP00000269856:V231M	V	+	1	0	FEM1A	4743557	1.000000	0.71417	1.000000	0.80357	0.362000	0.29581	9.674000	0.98633	2.257000	0.74773	0.484000	0.47621	GTG		0.687	FEM1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459000.1			3	88	0	0	0	1	0	3	88					A	4792557	G	A	4792557	3	1	185	1	0	0	0	0	1	0	0	0	5809	1145	40	1	693	1	FEM1A	19	4792557	Missense_Mutation	SNP	G	TCGA-G9-7521-01A-11D-2260-08	3828236	4792557	54336426	39	8681											
NCAN	1463	broad.mit.edu	37	chr19	19356217	19356217	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	catgaaagcgggcgctggaaCgatgtcccctgcaactacaa	12	6	11	12	3	0	1	0	1	0	0	1	3	1	2	2	2	5	2	2	2	5	1			TCGA-G9-7521-01A-11D-2260-08	TCGA-G9-7521-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74e478ae-4fd2-454f-a0d1-0d2d37527fb8	02ec6811-5ee2-4ebc-9a00-dc60ca0e4bbd	g.chr19:19356217C>T	ENST00000252575.6	+	13	3687	c.3588C>T	c.(3586-3588)aaC>aaT	p.N1196N	NCAN_ENST00000538881.1_Silent_p.N647N	NM_004386.2	NP_004377.2	O14594	NCAN_HUMAN	neurocan	1196	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|regulation of synapse structural plasticity (GO:0051823)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|hyaluronic acid binding (GO:0005540)			breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64			Epithelial(12;0.00544)		Hyaluronan(DB08818)	GGCGCTGGAACGATGTCCCCT	0.552																																						ENST00000252575.5																			0				breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64						c.(3586-3588)aaC>aaT		neurocan							136	116	123					19																	19356217		2203	4300	6503	SO:0001819	synonymous_variant	1463				axon guidance|cell adhesion	extracellular region	calcium ion binding|hyaluronic acid binding|sugar binding	g.chr19:19356217C>T	AF026547	CCDS12397.1	19p12	2014-01-30	2007-02-15	2007-02-15	ENSG00000130287	ENSG00000130287		"Immunoglobulin superfamily / V-set domain containing", "Proteoglycans / Extracellular Matrix : Hyalectans", "Endogenous ligands"	2465	protein-coding gene	gene with protein product	"neurocan proteoglycan"	600826	"chondroitin sulfate proteoglycan 3"	CSPG3		1326557, 21353194	Standard	NM_004386		Approved		uc002nlz.3	O14594		ENST00000252575.6:c.3588C>T	19.37:g.19356217C>T						NCAN_ENST00000538881.1_Silent_p.N647N	p.N1196N	NM_004386.2	NP_004377.2	O14594	NCAN_HUMAN	Epithelial(12;0.00544)		13	3631	+			1196			C-type lectin.		Q9UPK6	Silent	SNP	ENST00000252575.6	37	c.3588C>T	CCDS12397.1																																																																																				0.552	NCAN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460111.2	NM_004386		30	64	0	0	0	1	0	30	64					T	19356217	C	T	19356217	2	4	185	1	0	0	0	0	0	0	0	1	10204	535	19	1		1	NCAN	19	19356217	Silent	SNP	C	TCGA-G9-7521-01A-11D-2260-08	14563660	19356217	39772766	40	8682											
ZNF527	84503	broad.mit.edu	37	chr19	37880057	37880057	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atgtgggaaggcctttagccGttatgccttccttgttgaac	7	14	11	9	1	0	1	0	1	0	0	1	2	1	2	4	2	3	2	4	2	4	6			TCGA-G9-7521-01A-11D-2260-08	TCGA-G9-7521-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74e478ae-4fd2-454f-a0d1-0d2d37527fb8	02ec6811-5ee2-4ebc-9a00-dc60ca0e4bbd	g.chr19:37880057G>A	ENST00000436120.2	+	5	1213	c.1106G>A	c.(1105-1107)cGt>cAt	p.R369H	ZNF527_ENST00000587349.1_Intron	NM_032453.1	NP_115829.1	Q8NB42	ZN527_HUMAN	zinc finger protein 527	369					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	33			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			GCCTTTAGCCGTTATGCCTTC	0.433																																						ENST00000436120.2																			0				NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	33						c.(1105-1107)cGt>cAt		zinc finger protein 527							64	69	67					19																	37880057		2199	4300	6499	SO:0001583	missense	84503				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:37880057G>A	AB058732, AK091585	CCDS42559.1	19q13.1	2013-01-08			ENSG00000189164	ENSG00000189164		"Zinc fingers, C2H2-type", "-"	29385	protein-coding gene	gene with protein product						11347906	Standard	NM_032453		Approved	KIAA1829	uc010efk.1	Q8NB42	OTTHUMG00000048173	ENST00000436120.2:c.1106G>A	19.37:g.37880057G>A	ENSP00000390179:p.Arg369His					ZNF527_ENST00000587349.1_Intron	p.R369H	NM_032453.1	NP_115829.1	Q8NB42	ZN527_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		5	1213	+			369					B4DVL5	Missense_Mutation	SNP	ENST00000436120.2	37	c.1106G>A	CCDS42559.1	.	.	.	.	.	.	.	.	.	.	G	7.909	0.736063	0.15574	.	.	ENSG00000189164	ENST00000356178;ENST00000317566;ENST00000436120	.	.	.	3.67	0.148	0.14843	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.34906	N	0.003584	T	0.18257	0.0438	L	0.35793	1.09	0.09310	N	0.999999	B;B	0.25609	0.084;0.13	B;B	0.10450	0.004;0.005	T	0.11641	-1.0579	9	0.13470	T	0.59	.	2.9287	0.05793	0.473:0.0:0.3199:0.2071	.	369;337	Q8NB42;Q8NB42-2	ZN527_HUMAN;.	H	369;337;317	.	ENSP00000325231:R337H	R	+	2	0	ZNF527	42571897	0.000000	0.05858	0.035000	0.18076	0.996000	0.88848	-1.517000	0.02248	0.269000	0.21961	0.655000	0.94253	CGT		0.433	ZNF527-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458434.1	NM_032453		10	30	0	0	0	1	0	10	30					A	37880057	G	A	37880057	3	1	185	1	0	0	0	0	1	0	0	0	17965	1145	40	1	1120	1	ZNF527	19	37880057	Missense_Mutation	SNP	G	TCGA-G9-7521-01A-11D-2260-08	18523840	37880057	21248926	41	8683											
ZNF549	256051	broad.mit.edu	37	chr19	58050081	58050081	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gaaatgctttagacaccgcaCcagcctcattcaacaccaga	14	7	6	14	1	2	2	2	0	0	2	2	3	2	2	4	0	3	2	4	0	3	3			TCGA-G9-7521-01A-11D-2260-08	TCGA-G9-7521-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74e478ae-4fd2-454f-a0d1-0d2d37527fb8	02ec6811-5ee2-4ebc-9a00-dc60ca0e4bbd	g.chr19:58050081C>T	ENST00000376233.3	+	4	1890	c.1709C>T	c.(1708-1710)aCc>aTc	p.T570I	ZNF549_ENST00000240719.3_Missense_Mutation_p.T557I|ZNF550_ENST00000601415.1_Intron|ZNF549_ENST00000602149.1_Intron|ZNF549_ENST00000594943.1_Intron	NM_001199295.1	NP_001186224	Q6P9A3	ZN549_HUMAN	zinc finger protein 549	570					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(8)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	21		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		AGACACCGCACCAGCCTCATT	0.453																																						ENST00000376233.3																			0				NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(8)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	21						c.(1708-1710)aCc>aTc		zinc finger protein 549							66	68	67					19																	58050081		2203	4300	6503	SO:0001583	missense	256051				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58050081C>T	AK092236	CCDS12952.1, CCDS56106.1	19q13.43	2013-01-08				ENSG00000121406		"Zinc fingers, C2H2-type", "-"	26632	protein-coding gene	gene with protein product						12477932	Standard	NM_153263		Approved	FLJ34917	uc002qpb.2	Q6P9A3		ENST00000376233.3:c.1709C>T	19.37:g.58050081C>T	ENSP00000365407:p.Thr570Ile					ZNF549_ENST00000594943.1_Intron|ZNF549_ENST00000240719.3_Missense_Mutation_p.T557I|ZNF549_ENST00000602149.1_Intron|ZNF550_ENST00000601415.1_Intron	p.T570I	NM_001199295.1	NP_001186224.1	Q6P9A3	ZN549_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)	4	1890	+		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)	570					B3KV91|O43336|Q8NAR4	Missense_Mutation	SNP	ENST00000376233.3	37	c.1709C>T	CCDS56106.1	.	.	.	.	.	.	.	.	.	.	C	13.15	2.150359	0.37923	.	.	ENSG00000121406	ENST00000240719;ENST00000376233	T;T	0.15256	2.44;2.44	2.5	-1.89	0.07689	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.11623	0.0283	L	0.42686	1.345	0.09310	N	1	B;B	0.33073	0.396;0.063	B;B	0.26517	0.05;0.07	T	0.24012	-1.0172	9	0.66056	D	0.02	.	5.6955	0.17853	0.0:0.4939:0.372:0.1341	.	570;557	Q6P9A3;Q6P9A3-2	ZN549_HUMAN;.	I	557;570	ENSP00000240719:T557I;ENSP00000365407:T570I	ENSP00000240719:T557I	T	+	2	0	ZNF549	62741893	0.000000	0.05858	0.000000	0.03702	0.813000	0.45954	-0.230000	0.09083	-0.040000	0.13580	0.585000	0.79938	ACC		0.453	ZNF549-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466780.1	NM_153263		8	43	0	0	0	1	0	8	43					T	58050081	C	T	58050081	3	4	185	1	0	0	0	0	1	0	0	0	17978	507	18	3	1680	3	ZNF549	19	58050081	Missense_Mutation	SNP	C	TCGA-G9-7521-01A-11D-2260-08	20170024	58050081	1078902	42	8684											
PTPRC	5788	broad.mit.edu	37	chr1	198665988	198665988	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tagtccagacaatacttccaCccaagtatccccggactctt	11	10	5	15	1	1	1	0	0	1	1	4	2	4	2	5	1	1	1	5	1	5	5	rs375051221		TCGA-G9-7522-01A-11D-2260-08	TCGA-G9-7522-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f54442d1-80fa-4678-ac94-c3ad03bc37fb	ba7eb48d-9486-45fc-9728-4ceeb9bdca09	g.chr1:198665988C>T	ENST00000367376.2	+	4	413	c.242C>T	c.(241-243)aCc>aTc	p.T81I	PTPRC_ENST00000594404.1_Intron|PTPRC_ENST00000348564.6_Intron|PTPRC_ENST00000442510.2_Missense_Mutation_p.T83I|PTPRC_ENST00000391970.3_Intron|PTPRC_ENST00000352140.3_Missense_Mutation_p.T81I	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	81					axon guidance (GO:0007411)|B cell proliferation (GO:0042100)|B cell receptor signaling pathway (GO:0050853)|bone marrow development (GO:0048539)|cell cycle phase transition (GO:0044770)|cell surface receptor signaling pathway (GO:0007166)|defense response to virus (GO:0051607)|dephosphorylation (GO:0016311)|hematopoietic progenitor cell differentiation (GO:0002244)|immunoglobulin biosynthetic process (GO:0002378)|negative regulation of cell adhesion involved in substrate-bound cell migration (GO:0006933)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of T cell mediated cytotoxicity (GO:0001915)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of antigen receptor-mediated signaling pathway (GO:0050857)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of hematopoietic stem cell migration (GO:2000473)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of stem cell proliferation (GO:2000648)|positive regulation of T cell proliferation (GO:0042102)|protein dephosphorylation (GO:0006470)|regulation of cell cycle (GO:0051726)|release of sequestered calcium ion into cytosol (GO:0051209)|stem cell development (GO:0048864)|T cell differentiation (GO:0030217)|T cell receptor signaling pathway (GO:0050852)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						AATACTTCCACCCAAGTATCC	0.413													C|||	1	0.000199681	0	0	5008	,	,		20021	0.001		0	False		,,,				2504	0					ENST00000367376.2																			0				breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						c.(241-243)aCc>aTc		protein tyrosine phosphatase, receptor type, C							142	140	141					1																	198665988		2203	4300	6503	SO:0001583	missense	5788				axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway	focal adhesion|integral to plasma membrane|membrane raft	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr1:198665988C>T	Y00062	CCDS1397.1, CCDS1398.1, CCDS44291.1, CCDS1397.2, CCDS1398.2, CCDS44291.2	1q31-q32	2014-09-17			ENSG00000081237	ENSG00000081237		"CD molecules", "Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Fibronectin type III domain containing"	9666	protein-coding gene	gene with protein product		151460		CD45		2169617	Standard	NM_001267798		Approved	LCA, T200, GP180	uc001gur.2	P08575	OTTHUMG00000035702	ENST00000367376.2:c.242C>T	1.37:g.198665988C>T	ENSP00000356346:p.Thr81Ile					PTPRC_ENST00000348564.6_Intron|PTPRC_ENST00000391970.3_Intron|PTPRC_ENST00000594404.1_Intron|PTPRC_ENST00000352140.3_Missense_Mutation_p.T81I|PTPRC_ENST00000442510.2_Missense_Mutation_p.T83I	p.T81I	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN			4	413	+			81					A8K7W6|Q16614|Q9H0Y6	Missense_Mutation	SNP	ENST00000367376.2	37	c.242C>T		.	.	.	.	.	.	.	.	.	.	C	13.28	2.190036	0.38707	.	.	ENSG00000081237	ENST00000367376;ENST00000352140;ENST00000535566;ENST00000271610;ENST00000442510;ENST00000418674	T;T	0.02974	4.25;4.09	5.56	-1.59	0.08453	.	1.498500	0.04330	N	0.352249	T	0.03871	0.0109	L	0.51422	1.61	0.09310	N	1	P;P;P	0.44816	0.844;0.483;0.483	B;B;B	0.39217	0.294;0.113;0.113	T	0.49031	-0.8981	10	0.37606	T	0.19	.	8.723	0.34452	0.0:0.3457:0.498:0.1563	.	122;81;81	Q6Q1P2;E9PC28;P08575	.;.;PTPRC_HUMAN	I	83;81;81;122;81;81	ENSP00000193532:T81I;ENSP00000411355:T81I	ENSP00000271610:T122I	T	+	2	0	PTPRC	196932611	0.000000	0.05858	0.000000	0.03702	0.127000	0.20565	-1.083000	0.03397	0.005000	0.14708	0.655000	0.94253	ACC		0.413	PTPRC-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding				16	145	0	0	0	1	0	16	145					T	198665988	C	T	198665988	3	4	186	1	0	0	0	0	1	0	0	0	12797	507	18	3	263	3	PTPRC	1	198665988	Missense_Mutation	SNP	C	TCGA-G9-7522-01A-11D-2260-08		198665988	50584633	1	8685											
VILL	50853	broad.mit.edu	37	chr3	38047326	38047326	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcaagtgagtggaaggaggCggtggcctggggccaggagt	8	6	21	6	1	0	1	0	1	0	0	0	4	0	4	2	8	1	1	2	8	2	0	rs372162890		TCGA-G9-7522-01A-11D-2260-08	TCGA-G9-7522-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f54442d1-80fa-4678-ac94-c3ad03bc37fb	ba7eb48d-9486-45fc-9728-4ceeb9bdca09	g.chr3:38047326C>T	ENST00000283713.6	+	17	2260	c.1994C>T	c.(1993-1995)gCg>gTg	p.A665V	VILL_ENST00000383759.2_Missense_Mutation_p.A665V|VILL_ENST00000465644.1_Missense_Mutation_p.A383V			O15195	VILL_HUMAN	villin-like	665					actin filament capping (GO:0051693)|cytoskeleton organization (GO:0007010)	actin cytoskeleton (GO:0015629)	structural constituent of cytoskeleton (GO:0005200)			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|stomach(3)|urinary_tract(2)	28				KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)		TGGAAGGAGGCGGTGGCCTGG	0.657																																						ENST00000283713.6																			0				cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|stomach(3)|urinary_tract(2)	28						c.(1993-1995)gCg>gTg		villin-like		C	VAL/ALA	0,4406		0,0,2203	69	76	73		1994	4.4	0.6	3		73	1,8599	1.2+/-3.3	0,1,4299	no	missense	VILL	NM_015873.3	64	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	665/857	38047326	1,13005	2203	4300	6503	SO:0001583	missense	50853				actin filament capping|cytoskeleton organization	actin cytoskeleton	actin binding|structural constituent of cytoskeleton	g.chr3:38047326C>T		CCDS2670.2	3p21	2004-07-28			ENSG00000136059	ENSG00000136059			30906	protein-coding gene	gene with protein product						9179494	Standard	XM_005265191		Approved		uc003chl.3	O15195	OTTHUMG00000130814	ENST00000283713.6:c.1994C>T	3.37:g.38047326C>T	ENSP00000283713:p.Ala665Val					VILL_ENST00000465644.1_Missense_Mutation_p.A383V|VILL_ENST00000383759.2_Missense_Mutation_p.A665V	p.A665V			O15195	VILL_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)	17	2260	+			665					A8MZP1|Q9BT80|Q9BWH7	Missense_Mutation	SNP	ENST00000283713.6	37	c.1994C>T	CCDS2670.2	.	.	.	.	.	.	.	.	.	.	C	19.32	3.805840	0.70682	0.0	1.16E-4	ENSG00000136059	ENST00000283713;ENST00000383759;ENST00000356246;ENST00000465644	T;T;T	0.34667	1.35;1.35;1.35	4.43	4.43	0.53597	Gelsolin domain (1);	0.784903	0.12187	N	0.491543	T	0.62196	0.2408	M	0.78456	2.415	0.46317	D	0.99898	D	0.69078	0.997	D	0.66084	0.941	T	0.64685	-0.6349	10	0.62326	D	0.03	-13.5272	17.0212	0.86434	0.0:1.0:0.0:0.0	.	665	O15195	VILL_HUMAN	V	665;665;651;383	ENSP00000283713:A665V;ENSP00000373266:A665V;ENSP00000422096:A383V	ENSP00000283713:A665V	A	+	2	0	VILL	38022330	1.000000	0.71417	0.576000	0.28549	0.256000	0.26092	4.835000	0.62781	2.183000	0.69458	0.462000	0.41574	GCG		0.657	VILL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253360.3	NM_015873		18	157	0	0	0	1	0	18	157					T	38047326	C	T	38047326	3	4	186	1	0	0	0	0	1	0	0	0	17162	768	27	1	2056	1	VILL	3	38047326	Missense_Mutation	SNP	C	TCGA-G9-7522-01A-11D-2260-08		38047326	159975104	2	8686											
TCTA	6988	broad.mit.edu	37	chr3	49449979	49449981	+	In_Frame_Del	DEL	GCT	GCT	-																															atgcgcgtgaccctcttcaaGctgctgctgctgtggttggt																										TCGA-G9-7522-01A-11D-2260-08	TCGA-G9-7522-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f54442d1-80fa-4678-ac94-c3ad03bc37fb	ba7eb48d-9486-45fc-9728-4ceeb9bdca09	g.chr3:49449979_49449981delGCT	ENST00000273590.3	+	1	341_343	c.120_122delGCT	c.(118-123)aagctg>aag	p.L44del	RHOA_ENST00000454011.2_5'Flank|RHOA_ENST00000422781.1_5'Flank|RHOA_ENST00000265538.3_5'UTR|TCTA_ENST00000493381.1_3'UTR|RHOA_ENST00000418115.1_5'Flank	NM_022171.2	NP_071503.1	P57738	TCTA_HUMAN	T-cell leukemia translocation altered	44						integral component of membrane (GO:0016021)				large_intestine(4)|lung(1)	5				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		CCCTCTTCAAGCTGCTGCTGCTG	0.645																																						ENST00000273590.3																			0				large_intestine(4)|lung(1)	5						c.(118-123)aag>aa		T-cell leukemia translocation altered																																				SO:0001651	inframe_deletion	6988					integral to membrane		g.chr3:49449979_49449981delGCT		CCDS2796.1	3p21	2012-02-27	2012-02-27		ENSG00000145022	ENSG00000145022			11692	protein-coding gene	gene with protein product		600690	"T-cell leukemia translocation altered gene"			7728759	Standard	NM_022171		Approved		uc003cwv.4	P57738	OTTHUMG00000156846	ENST00000273590.3:c.120_122delGCT	3.37:g.49449988_49449990delGCT	ENSP00000273590:p.Leu44del					TCTA_ENST00000493381.1_3'UTR|RHOA_ENST00000265538.3_5'UTR	p.KL40del	NM_022171.2	NP_071503.1	P57738	TCTA_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	1	341_343	+			40					B2R4I4|Q6I9U4|Q9BSB0	In_Frame_Del	DEL	ENST00000273590.3	37	c.120_122delGCT	CCDS2796.1																																																																																				0.645	TCTA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346210.1	NM_022171		8	457						8	457	---	---	---	---	-	49449981	GCT	-	49449979	7	5	186	1	0	1	0	1	0	0	0	0	15713	962	34	0	122	0	TCTA	3	49449979	In_Frame_Del	DEL	GCT	TCGA-G9-7522-01A-11D-2260-08	11402653	49449979	148572451	3	8687											
DNAJB8	165721	broad.mit.edu	37	chr3	128181921	128181921	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagcgtttcttggagtcagaCagaacctcataggcctcaga	11	9	11	10	1	4	3	3	0	1	3	4	5	4	4	2	2	2	1	2	2	2	3			TCGA-G9-7522-01A-11D-2260-08	TCGA-G9-7522-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f54442d1-80fa-4678-ac94-c3ad03bc37fb	ba7eb48d-9486-45fc-9728-4ceeb9bdca09	g.chr3:128181921C>G	ENST00000469083.1	-	2	2725	c.168G>C	c.(166-168)ctG>ctC	p.L56L	DNAJB8_ENST00000319153.3_Silent_p.L56L|DNAJB8-AS1_ENST00000471626.1_RNA			Q8NHS0	DNJB8_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 8	56	J. {ECO:0000255|PROSITE- ProRule:PRU00286}.				chaperone-mediated protein folding (GO:0061077)|negative regulation of inclusion body assembly (GO:0090084)	cytosol (GO:0005829)|nucleus (GO:0005634)	chaperone binding (GO:0051087)|protein binding involved in protein folding (GO:0044183)|unfolded protein binding (GO:0051082)			kidney(1)|large_intestine(4)|lung(4)|prostate(1)|skin(1)	11				GBM - Glioblastoma multiforme(114;0.177)		TGGAGTCAGACAGAACCTCAT	0.612																																						ENST00000469083.1																			0				kidney(1)|large_intestine(4)|lung(4)|prostate(1)|skin(1)	11						c.(166-168)ctG>ctC		DnaJ (Hsp40) homolog, subfamily B, member 8							159	156	157					3																	128181921		2203	4300	6503	SO:0001819	synonymous_variant	165721				protein folding		heat shock protein binding|unfolded protein binding	g.chr3:128181921C>G		CCDS3048.1	3q21.3	2014-01-21			ENSG00000179407	ENSG00000179407		"Heat shock proteins / DNAJ (HSP40)"	23699	protein-coding gene	gene with protein product		611337					Standard	NM_153330		Approved	MGC33884, CT156	uc003ekk.2	Q8NHS0	OTTHUMG00000159690	ENST00000469083.1:c.168G>C	3.37:g.128181921C>G						DNAJB8_ENST00000319153.3_Silent_p.L56L	p.L56L			Q8NHS0	DNJB8_HUMAN		GBM - Glioblastoma multiforme(114;0.177)	2	2725	-			56			J.		B3KWV7	Silent	SNP	ENST00000469083.1	37	c.168G>C	CCDS3048.1																																																																																				0.612	DNAJB8-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356933.1	NM_153330		23	218	0	0	0	1	0	23	218					G	128181921	C	G	128181921	2	3	186	1	0	0	0	0	0	0	0	1	4626	465	17	5		5	DNAJB8	3	128181921	Silent	SNP	C	TCGA-G9-7522-01A-11D-2260-08	78731942	128181921	69840509	4	8688											
TMCC1	23023	broad.mit.edu	37	chr3	129370592	129370592	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccacctgctgctgctgctgcTgcagctccatcttggagatg	5	11	11	14	0	1	1	0	0	1	1	2	2	2	1	3	1	7	7	3	1	0	1			TCGA-G9-7522-01A-11D-2260-08	TCGA-G9-7522-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f54442d1-80fa-4678-ac94-c3ad03bc37fb	ba7eb48d-9486-45fc-9728-4ceeb9bdca09	g.chr3:129370592T>A	ENST00000393238.3	-	6	2034	c.1694A>T	c.(1693-1695)cAg>cTg	p.Q565L	TMCC1_ENST00000329333.5_Missense_Mutation_p.Q386L|TMCC1_ENST00000432054.2_Missense_Mutation_p.Q241L|TMCC1_ENST00000426664.2_Missense_Mutation_p.Q451L	NM_001017395.3	NP_001017395.2	O94876	TMCC1_HUMAN	transmembrane and coiled-coil domain family 1	565						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)			PLXND1/TMCC1(4)	breast(1)|endometrium(3)|large_intestine(8)|lung(12)|skin(1)	25						CTGCTGCTGCTGCAGCTCCAT	0.572																																						ENST00000393238.3																		PLXND1/TMCC1(4)	0				breast(1)|endometrium(3)|large_intestine(8)|lung(12)|skin(1)	25						c.(1693-1695)cAg>cTg		transmembrane and coiled-coil domain family 1							79	76	77					3																	129370592		2203	4300	6503	SO:0001583	missense	23023					integral to membrane		g.chr3:129370592T>A	AB018322	CCDS33855.1	3q21.3	2010-04-19	2005-07-13		ENSG00000172765	ENSG00000172765		"Transmembrane and coiled-coil domain containing"	29116	protein-coding gene	gene with protein product			"transmembrane and coiled-coil domains 1"			9872452	Standard	NR_033361		Approved	KIAA0779	uc021xdy.1	O94876	OTTHUMG00000159579	ENST00000393238.3:c.1694A>T	3.37:g.129370592T>A	ENSP00000376930:p.Gln565Leu					TMCC1_ENST00000432054.2_Missense_Mutation_p.Q241L|TMCC1_ENST00000329333.5_Missense_Mutation_p.Q386L|TMCC1_ENST00000426664.2_Missense_Mutation_p.Q451L	p.Q565L	NM_001017395.3	NP_001017395.2	O94876	TMCC1_HUMAN			6	2034	-			565					A8K5Y3|B4DE04|Q68E06|Q8IXM8	Missense_Mutation	SNP	ENST00000393238.3	37	c.1694A>T	CCDS33855.1	.	.	.	.	.	.	.	.	.	.	T	20.6	4.009576	0.75046	.	.	ENSG00000172765	ENST00000432054;ENST00000393238;ENST00000426664;ENST00000329333	T;T;T;T	0.50001	0.76;0.76;0.76;0.76	5.16	5.16	0.70880	.	0.000000	0.85682	D	0.000000	T	0.61261	0.2333	L	0.46614	1.455	0.80722	D	1	D;D	0.67145	0.996;0.985	D;D	0.85130	0.997;0.973	T	0.58278	-0.7664	10	0.33940	T	0.23	-18.4911	15.1509	0.72696	0.0:0.0:0.0:1.0	.	386;565	B4DE04;O94876	.;TMCC1_HUMAN	L	241;565;451;386	ENSP00000404711:Q241L;ENSP00000376930:Q565L;ENSP00000389892:Q451L;ENSP00000327349:Q386L	ENSP00000327349:Q386L	Q	-	2	0	TMCC1	130853282	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.735000	0.84939	2.172000	0.68678	0.533000	0.62120	CAG		0.572	TMCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356418.2	NM_015008		4	159	0	0	0	1	0	4	159					A	129370592	T	A	129370592	3	1	186	1	0	0	0	0	1	0	0	0	15989	1580	55	5	271	5	TMCC1	3	129370592	Missense_Mutation	SNP	T	TCGA-G9-7522-01A-11D-2260-08	1188671	129370592	68651838	5	8689											
RUNX2	860	broad.mit.edu	37	chr6	45390463	45390463	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caacagcagcagcagcagcaGcaacagcagcagcagcagca	16	0	11	14	0	0	0	0	0	0	0	0	0	0	0	0	0	13	11	0	0	2	0			TCGA-G9-7522-01A-11D-2260-08	TCGA-G9-7522-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f54442d1-80fa-4678-ac94-c3ad03bc37fb	ba7eb48d-9486-45fc-9728-4ceeb9bdca09	g.chr6:45390463G>A	ENST00000371438.1	+	2	550	c.192G>A	c.(190-192)caG>caA	p.Q64Q	RUNX2_ENST00000371432.3_Silent_p.Q50Q|RUNX2_ENST00000352853.5_Silent_p.Q132Q|RUNX2_ENST00000359524.5_Silent_p.Q50Q|RP1-244F24.1_ENST00000606796.1_RNA|RUNX2_ENST00000465038.2_Silent_p.Q64Q|RUNX2_ENST00000576263.1_Silent_p.Q64Q|RUNX2_ENST00000371436.6_Silent_p.Q64Q|RUNX2_ENST00000541979.1_Silent_p.Q132Q	NM_001024630.3	NP_001019801.3	Q13950	RUNX2_HUMAN	runt-related transcription factor 2	64	Poly-Gln.				BMP signaling pathway (GO:0030509)|cell maturation (GO:0048469)|cellular response to BMP stimulus (GO:0071773)|chondrocyte development (GO:0002063)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic forelimb morphogenesis (GO:0035115)|endochondral ossification (GO:0001958)|gene expression (GO:0010467)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription, DNA-templated (GO:0045892)|odontogenesis of dentin-containing tooth (GO:0042475)|ossification (GO:0001503)|osteoblast development (GO:0002076)|osteoblast differentiation (GO:0001649)|osteoblast fate commitment (GO:0002051)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus (GO:1901522)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|regulation of odontogenesis of dentin-containing tooth (GO:0042487)|stem cell differentiation (GO:0048863)|T cell differentiation (GO:0030217)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						agcagcagcagcaacagcagc	0.736																																						ENST00000371438.1																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						c.(190-192)caG>caA		runt-related transcription factor 2							11	16	14					6																	45390463		1448	3096	4544	SO:0001819	synonymous_variant	860				negative regulation of transcription, DNA-dependent|osteoblast differentiation|positive regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr6:45390463G>A	AF001450	CCDS43467.1, CCDS43468.1, CCDS43467.2, CCDS43468.2	6p21	2010-08-20			ENSG00000124813	ENSG00000124813			10472	protein-coding gene	gene with protein product		600211		CCD, CBFA1, CCD1		7835892	Standard	NM_001024630		Approved	AML3, PEBP2A1, PEBP2aA1	uc011dvx.2	Q13950	OTTHUMG00000014774	ENST00000371438.1:c.192G>A	6.37:g.45390463G>A						RUNX2_ENST00000576263.1_Silent_p.Q64Q|RUNX2_ENST00000371432.3_Silent_p.Q50Q|RUNX2_ENST00000359524.5_Silent_p.Q50Q|RUNX2_ENST00000541979.1_Silent_p.Q132Q|RUNX2_ENST00000352853.5_Silent_p.Q132Q|RUNX2_ENST00000371436.6_Silent_p.Q64Q|RUNX2_ENST00000465038.2_Silent_p.Q64Q	p.Q64Q	NM_001024630.3	NP_001019801.3	Q13950	RUNX2_HUMAN			2	550	+			64			Poly-Gln.		O14614|O14615|O95181	Silent	SNP	ENST00000371438.1	37	c.192G>A	CCDS43467.2																																																																																				0.736	RUNX2-003	KNOWN	not_organism_supported|upstream_ATG|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040755.2	NM_004348		3	54	0	0	0	1	0	3	54					A	45390463	G	A	45390463	2	1	186	1	0	0	0	0	0	0	0	1	13748	962	34	3		3	RUNX2	6	45390463	Silent	SNP	G	TCGA-G9-7522-01A-11D-2260-08		45390463	125724604	6	8690											
RFX6	222546	broad.mit.edu	37	chr6	117245849	117245849	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aaggttcttttcatttgattCgaatgcttctcgatgaatac	10	17	7	7	2	3	2	1	2	2	0	5	4	3	2	0	1	2	2	0	1	4	7			TCGA-G9-7522-01A-11D-2260-08	TCGA-G9-7522-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f54442d1-80fa-4678-ac94-c3ad03bc37fb	ba7eb48d-9486-45fc-9728-4ceeb9bdca09	g.chr6:117245849C>T	ENST00000332958.2	+	15	1589	c.1573C>T	c.(1573-1575)Cga>Tga	p.R525*		NM_173560.3	NP_775831.2	Q8HWS3	RFX6_HUMAN	regulatory factor X, 6	525					endocrine pancreas development (GO:0031018)|glucose homeostasis (GO:0042593)|pancreatic A cell differentiation (GO:0003310)|pancreatic D cell differentiation (GO:0003311)|pancreatic epsilon cell differentiation (GO:0090104)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of insulin secretion (GO:0050796)|transcription, DNA-templated (GO:0006351)|type B pancreatic cell differentiation (GO:0003309)	nucleus (GO:0005634)	transcription regulatory region DNA binding (GO:0044212)	p.R525*(1)		cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	59						TCATTTGATTCGAATGCTTCT	0.388																																						ENST00000332958.2																			1	Substitution - Nonsense(1)	p.R525*(1)	large_intestine(1)	cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	59						c.(1573-1575)Cga>Tga		regulatory factor X, 6							134	128	130					6																	117245849		2203	4300	6503	SO:0001587	stop_gained	222546				glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation	nucleus	protein binding|transcription regulatory region DNA binding	g.chr6:117245849C>T	BC039248	CCDS5113.1	6q22.31	2008-08-04	2008-08-04	2008-08-04	ENSG00000185002	ENSG00000185002			21478	protein-coding gene	gene with protein product		612659	"regulatory factor X domain containing 1"	RFXDC1			Standard	NM_173560		Approved	MGC33442, dJ955L16.1	uc003pxm.3	Q8HWS3	OTTHUMG00000015449	ENST00000332958.2:c.1573C>T	6.37:g.117245849C>T	ENSP00000332208:p.Arg525*						p.R525*	NM_173560.3	NP_775831.2	Q8HWS3	RFX6_HUMAN			15	1589	+			525					Q5T6B3	Nonsense_Mutation	SNP	ENST00000332958.2	37	c.1573C>T	CCDS5113.1	.	.	.	.	.	.	.	.	.	.	C	37	6.000857	0.97189	.	.	ENSG00000185002	ENST00000332958	.	.	.	5.32	4.43	0.53597	.	0.127580	0.52532	D	0.000066	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-11.989	13.7263	0.62761	0.0:0.9256:0.0:0.0743	.	.	.	.	X	525	.	ENSP00000332208:R525X	R	+	1	2	RFX6	117352542	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.030000	0.41108	2.646000	0.89796	0.655000	0.94253	CGA		0.388	RFX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041970.2	NM_173560		20	93	0	0	0	1	0	20	93					T	117245849	C	T	117245849	4	4	186	1	0	0	0	0	0	1	0	0	13267	876	31	2	1631	2	RFX6	6	117245849	Nonsense_Mutation	SNP	C	TCGA-G9-7522-01A-11D-2260-08	71855386	117245849	53869218	7	8691											
C7orf36	57002	broad.mit.edu	37	chr7	39610133	39610133	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tagagatggaatagatgctgGcaaagcagttactcttcaac	14	10	10	7	0	2	2	1	0	1	2	2	4	2	3	0	2	4	4	0	2	6	4			TCGA-G9-7522-01A-11D-2260-08	TCGA-G9-7522-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f54442d1-80fa-4678-ac94-c3ad03bc37fb	ba7eb48d-9486-45fc-9728-4ceeb9bdca09	g.chr7:39610133G>A	ENST00000223273.2	+	2	201	c.158G>A	c.(157-159)gGc>gAc	p.G53D	YAE1D1_ENST00000469737.1_3'UTR|YAE1D1_ENST00000432096.2_Missense_Mutation_p.G53D|YAE1D1_ENST00000448268.1_Missense_Mutation_p.G53D	NM_020192.3	NP_064577.1	Q9NRH1	YAED1_HUMAN	Yae1 domain containing 1	53																	ATAGATGCTGGCAAAGCAGTT	0.368																																						ENST00000432096.2																			0											c.(157-159)gGc>gAc		Yae1 domain containing 1							128	130	129					7																	39610133		2203	4300	6503	SO:0001583	missense	57002							g.chr7:39610133G>A	AF226046	CCDS5459.1, CCDS64630.1	7p14.1	2011-11-24	2011-11-24	2011-11-24	ENSG00000241127	ENSG00000241127			24857	protein-coding gene	gene with protein product			"chromosome 7 open reading frame 36"	C7orf36		12477932	Standard	NM_020192		Approved	GK003	uc003thc.4	Q9NRH1	OTTHUMG00000128689	ENST00000223273.2:c.158G>A	7.37:g.39610133G>A	ENSP00000223273:p.Gly53Asp					YAE1D1_ENST00000223273.2_Missense_Mutation_p.G53D|YAE1D1_ENST00000448268.1_Missense_Mutation_p.G53D|YAE1D1_ENST00000469737.1_3'UTR	p.G53D			Q9NRH1	CG036_HUMAN			2	171	+			53					A4D1W4|B4DE83|Q6IAF7|Q8WVZ5	Missense_Mutation	SNP	ENST00000223273.2	37	c.158G>A	CCDS5459.1	.	.	.	.	.	.	.	.	.	.	G	26.6	4.753565	0.89753	.	.	ENSG00000241127	ENST00000223273;ENST00000448268;ENST00000432096	T;T;T	0.74209	-0.82;-0.82;-0.82	6.02	6.02	0.97574	Essential protein Yae1, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.88955	0.6578	M	0.88181	2.935	0.58432	D	0.999998	D	0.89917	1.0	D	0.97110	1.0	D	0.89856	0.4013	10	0.72032	D	0.01	-13.4727	18.7178	0.91682	0.0:0.0:1.0:0.0	.	53	Q9NRH1	CG036_HUMAN	D	53	ENSP00000223273:G53D;ENSP00000400511:G53D;ENSP00000395777:G53D	ENSP00000223273:G53D	G	+	2	0	C7orf36	39576658	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	5.094000	0.64523	2.857000	0.98124	0.650000	0.86243	GGC		0.368	YAE1D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250586.1	NM_020192		3	82	0	0	0	1	0	3	82					A	39610133	G	A	39610133	3	1	186	1	0	0	0	0	1	0	0	0	2390	1203	42	3	164	3	C7orf36	7	39610133	Missense_Mutation	SNP	G	TCGA-G9-7522-01A-11D-2260-08		39610133	119528530	8	8692											
PPP1R3A	5506	broad.mit.edu	37	chr7	113558852	113558852	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gattgaatccaaaggaatcaGcaaatgaaactcttctagta	17	10	7	7	0	3	2	1	2	2	0	4	4	4	3	1	1	2	2	1	1	7	4			TCGA-G9-7522-01A-11D-2260-08	TCGA-G9-7522-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f54442d1-80fa-4678-ac94-c3ad03bc37fb	ba7eb48d-9486-45fc-9728-4ceeb9bdca09	g.chr7:113558852G>A	ENST00000284601.3	-	1	268	c.200C>T	c.(199-201)gCt>gTt	p.A67V		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	67					glycogen metabolic process (GO:0005977)	integral component of membrane (GO:0016021)				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						AAAGGAATCAGCAAATGAAAC	0.423																																						ENST00000284601.3																			0				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						c.(199-201)gCt>gTt		protein phosphatase 1, regulatory subunit 3A							88	81	83					7																	113558852		2203	4300	6503	SO:0001583	missense	5506				glycogen metabolic process	integral to membrane		g.chr7:113558852G>A	AF024578	CCDS5759.1	7q31.1	2012-04-17	2011-10-04	2001-07-02	ENSG00000154415	ENSG00000154415	3.1.3.16	"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	9291	protein-coding gene	gene with protein product	"glycogen-associated regulatory subunit of protein phosphatase-1", "protein phosphatase 1 regulatory subunit GM"	600917	"protein phosphatase 1, regulatory (inhibitor) subunit 3A (glycogen and sarcoplasmic reticulum binding subunit, skeletal muscle)", "protein phosphatase 1, regulatory (inhibitor) subunit 3A"	PPP1R3		7926294	Standard	NM_002711		Approved	GM	uc010ljy.1	Q16821	OTTHUMG00000156944	ENST00000284601.3:c.200C>T	7.37:g.113558852G>A	ENSP00000284601:p.Ala67Val						p.A67V	NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN			1	268	-			67					A0AVQ2|A4D0T6|O43476|Q75LN8|Q7KYM8|Q86UI6	Missense_Mutation	SNP	ENST00000284601.3	37	c.200C>T	CCDS5759.1	.	.	.	.	.	.	.	.	.	.	G	26.4	4.736987	0.89482	.	.	ENSG00000154415	ENST00000284601	T	0.47177	0.85	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.72630	0.3484	M	0.77103	2.36	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.72629	-0.4235	10	0.72032	D	0.01	-0.0927	20.8794	0.99867	0.0:0.0:1.0:0.0	.	67	Q16821	PPR3A_HUMAN	V	67	ENSP00000284601:A67V	ENSP00000284601:A67V	A	-	2	0	PPP1R3A	113346088	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	9.229000	0.95273	2.941000	0.99782	0.655000	0.94253	GCT		0.423	PPP1R3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346724.1	NM_002711		3	98	0	0	0	1	0	3	98					A	113558852	G	A	113558852	3	1	186	1	0	0	0	0	1	0	0	0	12371	971	34	3	3184	3	PPP1R3A	7	113558852	Missense_Mutation	SNP	G	TCGA-G9-7522-01A-11D-2260-08	73948719	113558852	45579811	9	8693											
PPP1R3B	79660	broad.mit.edu	37	chr8	8998648	8998648	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctgacaaggaaagtctgtgtAgctcttccaggtgtcgaacg	10	10	12	9	2	2	1	0	1	2	0	4	3	3	2	1	2	2	2	1	2	4	2			TCGA-G9-7522-01A-11D-2260-08	TCGA-G9-7522-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f54442d1-80fa-4678-ac94-c3ad03bc37fb	ba7eb48d-9486-45fc-9728-4ceeb9bdca09	g.chr8:8998648A>C	ENST00000310455.3	-	2	664	c.514T>G	c.(514-516)Tac>Gac	p.Y172D	RP11-10A14.3_ENST00000522057.1_RNA|PPP1R3B_ENST00000519699.1_Missense_Mutation_p.Y172D|RP11-10A14.3_ENST00000520017.1_RNA	NM_001201329.1|NM_024607.3	NP_001188258.1|NP_078883.2	Q86XI6	PPR3B_HUMAN	protein phosphatase 1, regulatory subunit 3B	172	CBM21. {ECO:0000255|PROSITE- ProRule:PRU00491}.				glycogen metabolic process (GO:0005977)|regulation of glycogen biosynthetic process (GO:0005979)|regulation of glycogen catabolic process (GO:0005981)	glycogen granule (GO:0042587)|intracellular membrane-bounded organelle (GO:0043231)|protein phosphatase type 1 complex (GO:0000164)	protein phosphatase regulator activity (GO:0019888)			endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	12				COAD - Colon adenocarcinoma(149;0.0717)|READ - Rectum adenocarcinoma(644;0.241)		AAGTCTGTGTAGCTCTTCCAG	0.493																																						ENST00000310455.3																			0				endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	12						c.(514-516)Tac>Gac		protein phosphatase 1, regulatory subunit 3B							240	204	216					8																	8998648		2203	4300	6503	SO:0001583	missense	79660				glycogen metabolic process			g.chr8:8998648A>C	AK024067	CCDS5973.1	8p23.1	2012-04-17	2011-10-04		ENSG00000173281	ENSG00000173281		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	14942	protein-coding gene	gene with protein product	"PP1 subunit R4", "hepatic glycogen-targeting subunit, G(L)"	610541	"protein phosphatase 1, regulatory (inhibitor) subunit 3B"			11948623, 17555403	Standard	NM_024607		Approved	GL, FLJ14005, PPP1R4	uc003wsn.4	Q86XI6	OTTHUMG00000129329	ENST00000310455.3:c.514T>G	8.37:g.8998648A>C	ENSP00000308318:p.Tyr172Asp					PPP1R3B_ENST00000519699.1_Missense_Mutation_p.Y172D	p.Y172D	NM_001201329.1|NM_024607.3	NP_001188258.1|NP_078883.2	Q86XI6	PPR3B_HUMAN		COAD - Colon adenocarcinoma(149;0.0717)|READ - Rectum adenocarcinoma(644;0.241)	2	664	-			172			CBM21.		B3KTV3|Q9H812	Missense_Mutation	SNP	ENST00000310455.3	37	c.514T>G	CCDS5973.1	.	.	.	.	.	.	.	.	.	.	A	14.56	2.572553	0.45798	.	.	ENSG00000173281	ENST00000310455;ENST00000519699	T;T	0.63744	-0.06;-0.06	5.77	4.58	0.56647	Putative phosphatase regulatory subunit (2);	0.151614	0.64402	D	0.000011	T	0.66799	0.2826	M	0.84683	2.71	0.43947	D	0.996611	B	0.25955	0.138	B	0.29440	0.102	T	0.66019	-0.6027	10	0.52906	T	0.07	-27.0283	12.1632	0.54115	0.8568:0.1432:0.0:0.0	.	172	Q86XI6	PPR3B_HUMAN	D	172	ENSP00000308318:Y172D;ENSP00000428642:Y172D	ENSP00000308318:Y172D	Y	-	1	0	PPP1R3B	9036058	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	3.540000	0.53611	0.975000	0.38392	0.459000	0.35465	TAC		0.493	PPP1R3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251472.1	NM_024607		20	156	0	0	0	1	0	20	156					C	8998648	A	C	8998648	3	2	186	1	0	0	0	0	1	0	0	0	12372	420	15	5	347	5	PPP1R3B	8	8998648	Missense_Mutation	SNP	A	TCGA-G9-7522-01A-11D-2260-08		8998648	137365374	10	8694											
KCNU1	157855	broad.mit.edu	37	chr8	36641948	36641948	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	catgtttcagactaagctacGaaatgaaacttgggaagact	15	10	9	7	1	1	3	1	1	0	2	1	5	1	4	0	1	3	2	0	1	5	4	rs369264156		TCGA-G9-7522-01A-11D-2260-08	TCGA-G9-7522-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f54442d1-80fa-4678-ac94-c3ad03bc37fb	ba7eb48d-9486-45fc-9728-4ceeb9bdca09	g.chr8:36641948G>A	ENST00000399881.3	+	1	57	c.20G>A	c.(19-21)cGa>cAa	p.R7Q		NM_001031836.2	NP_001027006.2	A8MYU2	KCNU1_HUMAN	potassium channel, subfamily U, member 1	7					multicellular organism reproduction (GO:0032504)|potassium ion transmembrane transport (GO:0071805)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	large conductance calcium-activated potassium channel activity (GO:0060072)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1)	57				KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)		ACTAAGCTACGAAATGAAACT	0.453																																						ENST00000399881.3																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1)	57						c.(19-21)cGa>cAa		potassium channel, subfamily U, member 1		G	GLN/ARG	0,3900		0,0,1950	119	111	114		20	-7.5	0	8		114	1,8293		0,1,4146	no	missense	KCNU1	NM_001031836.2	43	0,1,6096	AA,AG,GG		0.0121,0.0,0.0082	benign	7/1150	36641948	1,12193	1950	4147	6097	SO:0001583	missense	157855					voltage-gated potassium channel complex	binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity	g.chr8:36641948G>A	BC028701	CCDS55220.1	8p11.2	2012-07-05				ENSG00000215262		"Potassium channels", "Voltage-gated ion channels / Potassium channels, calcium-activated"	18867	protein-coding gene	gene with protein product		615215				16382103	Standard	NM_001031836		Approved	KCa5.1, Slo3, KCNMC1, Kcnma3	uc010lvw.3	A8MYU2		ENST00000399881.3:c.20G>A	8.37:g.36641948G>A	ENSP00000382770:p.Arg7Gln						p.R7Q	NM_001031836.2	NP_001027006.2	A8MYU2	KCNU1_HUMAN		KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)	1	57	+			7						Missense_Mutation	SNP	ENST00000399881.3	37	c.20G>A	CCDS55220.1	.	.	.	.	.	.	.	.	.	.	G	12.85	2.062388	0.36373	0.0	1.21E-4	ENSG00000215262	ENST00000523973;ENST00000399881	T;T	0.31510	1.53;1.49	5.49	-7.5	0.01351	.	.	.	.	.	T	0.10035	0.0246	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.29792	-1.0000	9	0.13470	T	0.59	.	4.0115	0.09624	0.3144:0.1168:0.4432:0.1256	.	7	A8MYU2	KCNU1_HUMAN	Q	7	ENSP00000429951:R7Q;ENSP00000382770:R7Q	ENSP00000382770:R7Q	R	+	2	0	KCNU1	36761106	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.459000	0.06728	-1.245000	0.02513	-1.301000	0.01330	CGA		0.453	KCNU1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376631.1	NM_001031836		6	43	0	0	0	1	0	6	43					A	36641948	G	A	36641948	3	1	186	1	0	0	0	0	1	0	0	0	8093	1058	37	2	22	2	KCNU1	8	36641948	Missense_Mutation	SNP	G	TCGA-G9-7522-01A-11D-2260-08	27643300	36641948	109722074	11	8695											
ABCA2	20	broad.mit.edu	37	chr9	139912649	139912649	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccctggatccagacgaagccGtagaggaagtagaagcggcc	12	4	14	11	3	0	3	0	0	0	3	1	6	1	5	4	3	2	2	4	3	5	2			TCGA-G9-7522-01A-11D-2260-08	TCGA-G9-7522-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f54442d1-80fa-4678-ac94-c3ad03bc37fb	ba7eb48d-9486-45fc-9728-4ceeb9bdca09	g.chr9:139912649G>A	ENST00000371605.3	-	13	2118	c.1971C>T	c.(1969-1971)taC>taT	p.Y657Y	ABCA2_ENST00000341511.6_Silent_p.Y658Y|ABCA2_ENST00000265662.5_Silent_p.Y658Y|ABCA2_ENST00000492260.1_5'Flank			Q9BZC7	ABCA2_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 2	657					ATP catabolic process (GO:0006200)|cholesterol homeostasis (GO:0042632)|lipid metabolic process (GO:0006629)|regulation of intracellular cholesterol transport (GO:0032383)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to drug (GO:0042493)|response to steroid hormone (GO:0048545)|transmembrane transport (GO:0055085)|transport (GO:0006810)	ATP-binding cassette (ABC) transporter complex (GO:0043190)|cytoplasmic membrane-bounded vesicle (GO:0016023)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|nucleotide binding (GO:0000166)			central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|liver(1)|lung(25)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	41	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		AGACGAAGCCGTAGAGGAAGT	0.642																																						ENST00000265662.5																			0				central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|liver(1)|lung(25)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	41						c.(1972-1974)taC>taT		ATP-binding cassette, sub-family A (ABC1), member 2							44	47	46					9																	139912649		1901	4113	6014	SO:0001819	synonymous_variant	20				cholesterol homeostasis|lipid metabolic process|regulation of intracellular cholesterol transport|regulation of transcription from RNA polymerase II promoter|response to drug|response to steroid hormone stimulus	ATP-binding cassette (ABC) transporter complex|cytoplasmic membrane-bounded vesicle|endosome|integral to membrane|microtubule organizing center	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr9:139912649G>A	U18235	CCDS43909.1	9q34	2012-03-14			ENSG00000107331	ENSG00000107331		"ATP binding cassette transporters / subfamily A"	32	protein-coding gene	gene with protein product		600047		ABC2		8088782	Standard	NM_212533		Approved		uc022bpy.1	Q9BZC7	OTTHUMG00000020958	ENST00000371605.3:c.1971C>T	9.37:g.139912649G>A						ABCA2_ENST00000371605.3_Silent_p.Y657Y|ABCA2_ENST00000341511.6_Silent_p.Y658Y	p.Y658Y			Q9BZC7	ABCA2_HUMAN	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)	14	2121	-	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	657					A6NED5|Q5SPY5|Q5W9G5|Q76MW7|Q9HC28	Silent	SNP	ENST00000371605.3	37	c.1974C>T																																																																																					0.642	ABCA2-202	KNOWN	basic	protein_coding	protein_coding		NM_001606		3	49	0	0	0	1	0	3	49					A	139912649	G	A	139912649	2	1	186	1	0	0	0	0	0	0	0	1	32	1140	40	1		1	ABCA2	9	139912649	Silent	SNP	G	TCGA-G9-7522-01A-11D-2260-08		139912649	1300782	12	8696											
AHNAK	79026	broad.mit.edu	37	chr11	62299581	62299581	+	Frame_Shift_Del	DEL	C	C	-																															agccttgggcaggttcacatCcacttctgggccctctgctt																										TCGA-G9-7522-01A-11D-2260-08	TCGA-G9-7522-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f54442d1-80fa-4678-ac94-c3ad03bc37fb	ba7eb48d-9486-45fc-9728-4ceeb9bdca09	g.chr11:62299581delC	ENST00000378024.4	-	5	2582	c.2308delG	c.(2308-2310)gatfs	p.D770fs	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	770					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				AGGTTCACATCCACTTCTGGG	0.502																																						ENST00000378024.4																			0				NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268						c.(2308-2310)atfs		AHNAK nucleoprotein							153	158	156					11																	62299581		2202	4299	6501	SO:0001589	frameshift_variant	79026				nervous system development	nucleus	protein binding	g.chr11:62299581delC	M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"desmoyokin"	103390	"AHNAK nucleoprotein (desmoyokin)"			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.2308delG	11.37:g.62299581delC	ENSP00000367263:p.Asp770fs					AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	p.D770fs	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN			5	2582	-		Melanoma(852;0.155)	770					A1A586	Frame_Shift_Del	DEL	ENST00000378024.4	37	c.2308delG	CCDS31584.1																																																																																				0.502	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060		46	333						46	333	---	---	---	---	-	62299581	C	-	62299581	7	5	186	1	0	1	0	1	0	0	0	0	414	855	30	0	15484	0	AHNAK	11	62299581	Frame_Shift_Del	DEL	C	TCGA-G9-7522-01A-11D-2260-08		62299581	72706935	13	8697											
PRPF40B	25766	broad.mit.edu	37	chr12	50025258	50025258	+	Frame_Shift_Del	DEL	C	C	-																															agtcagagaccaccagctatCccccccatgccacctggcat																										TCGA-G9-7522-01A-11D-2260-08	TCGA-G9-7522-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f54442d1-80fa-4678-ac94-c3ad03bc37fb	ba7eb48d-9486-45fc-9728-4ceeb9bdca09	g.chr12:50025258delC	ENST00000380281.1	+	2	157	c.93delC	c.(91-93)atcfs	p.I31fs	PRPF40B_ENST00000261897.1_Frame_Shift_Del_p.I25fs|PRPF40B_ENST00000548825.2_Frame_Shift_Del_p.I53fs			Q6NWY9	PR40B_HUMAN	PRP40 pre-mRNA processing factor 40 homolog B (S. cerevisiae)	31	Pro-rich.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	34						CACCAGCTATCCCCCCCATGC	0.607																																						ENST00000261897.1																			0				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	34						c.(73-75)atfs		PRP40 pre-mRNA processing factor 40 homolog B (S. cerevisiae)							84	87	86					12																	50025258		2203	4300	6503	SO:0001589	frameshift_variant	25766				mRNA processing|RNA splicing	nuclear speck		g.chr12:50025258delC	AF049525	CCDS31796.1, CCDS31796.2	12q13.12	2014-09-17	2006-04-04			ENSG00000110844			25031	protein-coding gene	gene with protein product	"Huntingtin interacting protein C"		"PRP40 pre-mRNA processing factor 40 homolog B (yeast)"			9700202	Standard	NM_001031698		Approved	HYPC	uc001rus.2	Q6NWY9		ENST00000380281.1:c.93delC	12.37:g.50025258delC	ENSP00000369634:p.Ile31fs					PRPF40B_ENST00000380281.1_Frame_Shift_Del_p.I31fs|PRPF40B_ENST00000548825.2_Frame_Shift_Del_p.I53fs	p.I25fs			Q6NWY9	PR40B_HUMAN			2	626	+			31			Pro-rich.		O75401|Q6PI09|Q6ZWB3|Q8NCZ1|Q9H5G4|Q9NT95	Frame_Shift_Del	DEL	ENST00000380281.1	37	c.75delC																																																																																					0.607	PRPF40B-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000404838.1	NM_012272		7	390						7	390	---	---	---	---	-	50025258	C	-	50025258	7	5	186	1	0	1	0	1	0	0	0	0	12572	845	30	0	99	0	PRPF40B	12	50025258	Frame_Shift_Del	DEL	C	TCGA-G9-7522-01A-11D-2260-08		50025258	83826637	14	8698											
ATP6V0A2	23545	broad.mit.edu	37	chr12	124236942	124236942	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggatgtagagaaatggcgtGtgaagaggtaaatcttttca	13	12	13	3	1	2	3	1	1	1	2	2	5	2	4	0	3	0	2	0	3	5	4	rs201325140		TCGA-G9-7522-01A-11D-2260-08	TCGA-G9-7522-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f54442d1-80fa-4678-ac94-c3ad03bc37fb	ba7eb48d-9486-45fc-9728-4ceeb9bdca09	g.chr12:124236942G>A	ENST00000330342.3	+	17	2416	c.2168G>A	c.(2167-2169)tGt>tAt	p.C723Y	ATP6V0A2_ENST00000544833.1_5'Flank	NM_012463.3	NP_036595.2	Q9Y487	VPP2_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit a2	723					ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|immune response (GO:0006955)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	acrosomal vesicle (GO:0001669)|cytoplasm (GO:0005737)|endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)|vacuolar proton-transporting V-type ATPase, V0 domain (GO:0000220)	hydrogen ion transmembrane transporter activity (GO:0015078)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|liver(1)|lung(10)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	26	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000224)|Epithelial(86;0.000625)|all cancers(50;0.00775)		GAAATGGCGTGTGAAGAGGTA	0.343																																						ENST00000330342.3																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|liver(1)|lung(10)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	26						c.(2167-2169)tGt>tAt		ATPase, H+ transporting, lysosomal V0 subunit a2							106	107	107					12																	124236942		2203	4300	6503	SO:0001583	missense	23545				ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|immune response|insulin receptor signaling pathway|transferrin transport	endosome membrane|integral to membrane|plasma membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	hydrogen ion transmembrane transporter activity|protein binding	g.chr12:124236942G>A	AF112972	CCDS9254.1	12q24.31	2010-04-21	2006-01-20		ENSG00000185344	ENSG00000185344		"ATPases / V-type"	18481	protein-coding gene	gene with protein product	"infantile malignant osteopetrosis"	611716	"infantile malignant osteopetrosis", "ATPase, H+ transporting, lysosomal V0 subunit a isoform 2", "ATPase, H+ transporting, lysosomal V0 subunit A2"			2247090, 18157129	Standard	NM_012463		Approved	TJ6, a2, TJ6s, TJ6M, ATP6a2, J6B7, ATP6N1D, Vph1, Stv1	uc001ufr.3	Q9Y487	OTTHUMG00000168723	ENST00000330342.3:c.2168G>A	12.37:g.124236942G>A	ENSP00000332247:p.Cys723Tyr						p.C723Y	NM_012463.3	NP_036595.2	Q9Y487	VPP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000224)|Epithelial(86;0.000625)|all cancers(50;0.00775)	17	2416	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		723					A8K026|Q6NUM0	Missense_Mutation	SNP	ENST00000330342.3	37	c.2168G>A	CCDS9254.1	.	.	.	.	.	.	.	.	.	.	G	1.943	-0.443222	0.04604	.	.	ENSG00000185344	ENST00000330342;ENST00000534943	D;D	0.85702	-2.02;-2.02	5.76	3.61	0.41365	.	0.803186	0.12001	N	0.508850	T	0.78071	0.4226	L	0.34521	1.04	0.09310	N	1	B	0.20459	0.045	B	0.14578	0.011	T	0.69529	-0.5121	10	0.66056	D	0.02	-9.1968	10.248	0.43352	0.2275:0.0:0.7725:0.0	.	723	Q9Y487	VPP2_HUMAN	Y	723;3	ENSP00000332247:C723Y;ENSP00000443726:C3Y	ENSP00000332247:C723Y	C	+	2	0	ATP6V0A2	122802895	0.001000	0.12720	0.452000	0.26994	0.482000	0.33219	0.211000	0.17474	1.431000	0.47355	0.655000	0.94253	TGT		0.343	ATP6V0A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400765.2	NM_012463		3	87	0	0	0	1	0	3	87					A	124236942	G	A	124236942	3	1	186	1	0	0	0	0	1	0	0	0	1169	1377	48	3	2234	3	ATP6V0A2	12	124236942	Missense_Mutation	SNP	G	TCGA-G9-7522-01A-11D-2260-08	74211684	124236942	9614953	15	8699											
TLN2	83660	broad.mit.edu	37	chr15	63008557	63008557	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	cagccaacccagagaatgagGaccagcagcaaaggctgaga	16	2	12	11	0	0	3	0	2	0	2	0	6	0	4	3	2	4	3	3	2	3	0			TCGA-G9-7522-01A-11D-2260-08	TCGA-G9-7522-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f54442d1-80fa-4678-ac94-c3ad03bc37fb	ba7eb48d-9486-45fc-9728-4ceeb9bdca09	g.chr15:63008557G>A	ENST00000561311.1	+	22	2892	c.2662G>A	c.(2662-2664)Gac>Aac	p.D888N	TLN2_ENST00000306829.6_Missense_Mutation_p.D888N			Q9Y4G6	TLN2_HUMAN	talin 2	888	Ala-rich.				cell adhesion (GO:0007155)|cell-cell junction assembly (GO:0007043)|cytoskeletal anchoring at plasma membrane (GO:0007016)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|synapse (GO:0045202)	actin binding (GO:0003779)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						AGAGAATGAGGACCAGCAGCA	0.483																																						ENST00000561311.1																			0				NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						c.(2662-2664)Gac>Aac		talin 2							46	48	47					15																	63008557		2203	4300	6503	SO:0001583	missense	83660				cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane	actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse	actin binding|insulin receptor binding|structural constituent of cytoskeleton	g.chr15:63008557G>A	AB002318	CCDS32261.1	15q15-q21	2008-07-03			ENSG00000171914	ENSG00000171914			15447	protein-coding gene	gene with protein product		607349				9205841, 11527381	Standard	NM_015059		Approved	KIAA0320, ILWEQ	uc002alb.4	Q9Y4G6	OTTHUMG00000133679	ENST00000561311.1:c.2662G>A	15.37:g.63008557G>A	ENSP00000453508:p.Asp888Asn					TLN2_ENST00000306829.6_Missense_Mutation_p.D888N	p.D888N			Q9Y4G6	TLN2_HUMAN			22	2892	+			888			Ala-rich.		A6NLB8	Missense_Mutation	SNP	ENST00000561311.1	37	c.2662G>A	CCDS32261.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.267905	0.80469	.	.	ENSG00000171914	ENST00000306829	T	0.66815	-0.23	5.65	5.65	0.86999	.	0.042437	0.85682	D	0.000000	T	0.60327	0.2260	L	0.38838	1.175	0.80722	D	1	P	0.38020	0.615	B	0.38264	0.269	T	0.55263	-0.8168	10	0.21014	T	0.42	-18.7917	19.6904	0.95998	0.0:0.0:1.0:0.0	.	888	Q9Y4G6	TLN2_HUMAN	N	888	ENSP00000303476:D888N	ENSP00000303476:D888N	D	+	1	0	TLN2	60795849	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	9.775000	0.98995	2.822000	0.97130	0.650000	0.86243	GAC		0.483	TLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257878.2			3	77	0	0	0	1	0	3	77					A	63008557	G	A	63008557	3	1	186	1	0	0	0	0	1	0	0	0	15945	1174	41	3	2740	3	TLN2	15	63008557	Missense_Mutation	SNP	G	TCGA-G9-7522-01A-11D-2260-08		63008557	39522835	16	8700											
STAC2	342667	broad.mit.edu	37	chr17	37369385	37369385	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	aacccggtcgccgatcttgcCctggggatgaggttggcaat	7	9	14	11	3	1	1	0	1	1	0	2	3	1	2	3	5	2	2	3	5	2	2			TCGA-G9-7522-01A-11D-2260-08	TCGA-G9-7522-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f54442d1-80fa-4678-ac94-c3ad03bc37fb	ba7eb48d-9486-45fc-9728-4ceeb9bdca09	g.chr17:37369385C>A	ENST00000333461.5	-	10	1363	c.994G>T	c.(994-996)Ggc>Tgc	p.G332C		NM_198993.3	NP_945344.1	Q6ZMT1	STAC2_HUMAN	SH3 and cysteine rich domain 2	332	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				intracellular signal transduction (GO:0035556)		metal ion binding (GO:0046872)			NS(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|skin(2)	17						CCGATCTTGCCCTGGGGATGA	0.612																																						ENST00000333461.5																			0				NS(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|skin(2)	17						c.e10-1		SH3 and cysteine rich domain 2							48	52	50					17																	37369385		2203	4300	6503	SO:0001630	splice_region_variant	342667				intracellular signal transduction		metal ion binding	g.chr17:37369385C>A	AJ608762	CCDS11335.1	17q21.2	2012-11-19			ENSG00000141750	ENSG00000141750			23990	protein-coding gene	gene with protein product							Standard	NM_198993		Approved	24b2	uc002hrs.3	Q6ZMT1	OTTHUMG00000179039	ENST00000333461.5:c.994-1G>T	17.37:g.37369385C>A							p.G332_splice	NM_198993.3	NP_945344.1	Q6ZMT1	STAC2_HUMAN			10	1363	-			332			SH3.		Q32MA3	Splice_Site	SNP	ENST00000333461.5	37	c.993_splice	CCDS11335.1	.	.	.	.	.	.	.	.	.	.	c	18.79	3.699009	0.68501	.	.	ENSG00000141750	ENST00000333461	T	0.64803	-0.12	5.15	5.15	0.70609	Src homology-3 domain (5);	0.000000	0.85682	D	0.000000	T	0.82195	0.4984	M	0.87456	2.885	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.85691	0.1307	10	0.87932	D	0	-1.0322	17.3884	0.87423	0.0:1.0:0.0:0.0	.	332	Q6ZMT1	STAC2_HUMAN	C	332	ENSP00000327509:G332C	ENSP00000327509:G332C	G	-	1	0	STAC2	34622911	1.000000	0.71417	1.000000	0.80357	0.034000	0.12701	6.776000	0.75023	2.405000	0.81733	0.462000	0.41574	GGC		0.612	STAC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444533.2	NM_198993	Missense_Mutation	5	167	1	0	0.184627	1	0.190058	5	167					A	37369385	C	A	37369385	5	1	186	1	0	0	0	0	0	0	1	0	15239	637	22	5	249	5	STAC2	17	37369385	Splice_Site	SNP	C	TCGA-G9-7522-01A-11D-2260-08		37369385	43825825	17	8701											
SCN4A	6329	broad.mit.edu	37	chr17	62041134	62041134	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gccattgcagtctttgccatGggctgggtccccatctgcct	4	12	11	14	0	2	0	0	0	2	0	3	0	3	0	5	2	3	2	5	2	0	2			TCGA-G9-7522-01A-11D-2260-08	TCGA-G9-7522-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f54442d1-80fa-4678-ac94-c3ad03bc37fb	ba7eb48d-9486-45fc-9728-4ceeb9bdca09	g.chr17:62041134G>A	ENST00000435607.1	-	10	1580	c.1504C>T	c.(1504-1506)Cat>Tat	p.H502Y	SCN4A_ENST00000578147.1_Missense_Mutation_p.H502Y	NM_000334.4	NP_000325.4	P35499	SCN4A_HUMAN	sodium channel, voltage-gated, type IV, alpha subunit	502					membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Diclofenac(DB00586)|Flecainide(DB01195)|Propofol(DB00818)|Valproic Acid(DB00313)|Zonisamide(DB00909)	TCTTTGCCATGGGCTGGGTCC	0.637																																						ENST00000435607.1																			0				breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101						c.(1504-1506)Cat>Tat		sodium channel, voltage-gated, type IV, alpha subunit	Lamotrigine(DB00555)						31	32	32					17																	62041134		2088	4215	6303	SO:0001583	missense	6329				muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr17:62041134G>A	U24693		17q23.3	2012-02-26	2007-01-23					"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10591	protein-coding gene	gene with protein product		603967		HYKPP		1654742, 1659948, 16382098	Standard	XM_005257566		Approved	Nav1.4, HYPP, SkM1	uc002jds.1	P35499		ENST00000435607.1:c.1504C>T	17.37:g.62041134G>A	ENSP00000396320:p.His502Tyr					SCN4A_ENST00000578147.1_Missense_Mutation_p.H502Y	p.H502Y	NM_000334.4	NP_000325.4	P35499	SCN4A_HUMAN			10	1580	-			502					Q15478|Q16447|Q7Z6B1	Missense_Mutation	SNP	ENST00000435607.1	37	c.1504C>T	CCDS45761.1	.	.	.	.	.	.	.	.	.	.	G	10.75	1.438171	0.25900	.	.	ENSG00000007314	ENST00000435607	D	0.96104	-3.91	4.51	3.5	0.40072	.	0.888008	0.09836	N	0.749552	D	0.89497	0.6732	N	0.08118	0	0.09310	N	1	B	0.14438	0.01	B	0.21360	0.034	T	0.82108	-0.0620	10	0.72032	D	0.01	.	10.7292	0.46087	0.0:0.0:0.6576:0.3424	.	502	P35499	SCN4A_HUMAN	Y	502	ENSP00000396320:H502Y	ENSP00000396320:H502Y	H	-	1	0	SCN4A	59394866	0.012000	0.17670	0.142000	0.22268	0.962000	0.63368	1.576000	0.36504	1.066000	0.40716	0.655000	0.94253	CAT		0.637	SCN4A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_000334		7	22	0	0	0	1	0	7	22					A	62041134	G	A	62041134	3	1	186	1	0	0	0	0	1	0	0	0	13920	1348	47	3	4066	3	SCN4A	17	62041134	Missense_Mutation	SNP	G	TCGA-G9-7522-01A-11D-2260-08	24671749	62041134	19154076	18	8702											
CDK5RAP1	51654	broad.mit.edu	37	chr20	31961946	31961946	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccgcatggcctccaacacacGgctgcttccactctgggctg	6	8	10	17	2	1	0	0	0	1	0	3	0	3	0	4	3	2	4	4	3	1	1			TCGA-G9-7522-01A-11D-2260-08	TCGA-G9-7522-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f54442d1-80fa-4678-ac94-c3ad03bc37fb	ba7eb48d-9486-45fc-9728-4ceeb9bdca09	g.chr20:31961946G>A	ENST00000357886.4	-	10	1375	c.1222C>T	c.(1222-1224)Cgt>Tgt	p.R408C	CDK5RAP1_ENST00000346416.2_Missense_Mutation_p.R394C|CDK5RAP1_ENST00000473997.1_Missense_Mutation_p.R304C|CDK5RAP1_ENST00000339269.5_Missense_Mutation_p.R317C|CDK5RAP1_ENST00000544843.1_Missense_Mutation_p.R394C|CDK5RAP1_ENST00000477105.1_5'UTR			Q96SZ6	CK5P1_HUMAN	CDK5 regulatory subunit associated protein 1	408					brain development (GO:0007420)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|regulation of neuron differentiation (GO:0045664)|tRNA modification (GO:0006400)	cytoplasm (GO:0005737)	4 iron, 4 sulfur cluster binding (GO:0051539)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)|transferase activity (GO:0016740)			endometrium(2)|kidney(2)|large_intestine(3)|lung(12)|ovary(3)|skin(3)|urinary_tract(1)	26						TCCAACACACGGCTGCTTCCA	0.502																																						ENST00000357886.4																			0				endometrium(2)|kidney(2)|large_intestine(3)|lung(12)|ovary(3)|skin(3)|urinary_tract(1)	26						c.(1222-1224)Cgt>Tgt		CDK5 regulatory subunit associated protein 1							132	131	131					20																	31961946		2203	4300	6503	SO:0001583	missense	51654				brain development|negative regulation of cyclin-dependent protein kinase activity|regulation of neuron differentiation|tRNA modification	cytoplasm	4 iron, 4 sulfur cluster binding|metal ion binding|neuronal Cdc2-like kinase binding|transferase activity	g.chr20:31961946G>A	AF152097	CCDS13219.1, CCDS63255.1	20q11.21	2012-09-20	2002-07-22	2002-07-26	ENSG00000101391	ENSG00000101391			15880	protein-coding gene	gene with protein product		608200	"chromosome 20 open reading frame 34"	C20orf34		10721722, 11882646, 15329498	Standard	NM_016408		Approved	CGI-05, HSPC167, C42	uc002wyy.4	Q96SZ6	OTTHUMG00000032256	ENST00000357886.4:c.1222C>T	20.37:g.31961946G>A	ENSP00000350558:p.Arg408Cys					CDK5RAP1_ENST00000452723.3_Missense_Mutation_p.R304C|CDK5RAP1_ENST00000346416.2_Missense_Mutation_p.R394C|CDK5RAP1_ENST00000473997.1_5'UTR|CDK5RAP1_ENST00000544843.1_Missense_Mutation_p.R394C|CDK5RAP1_ENST00000339269.5_Missense_Mutation_p.R317C	p.R408C			Q96SZ6	CK5P1_HUMAN			10	1375	-			408					A8K7R0|Q5QP46|Q5QP47|Q5QP48|Q675N4|Q675N5|Q9BVG6|Q9BWZ5|Q9H859|Q9NZZ9|Q9Y3F0	Missense_Mutation	SNP	ENST00000357886.4	37	c.1222C>T		.	.	.	.	.	.	.	.	.	.	G	22.3	4.272403	0.80580	.	.	ENSG00000101391	ENST00000346416;ENST00000357886;ENST00000339269;ENST00000452723;ENST00000544843	T;T;T;T;T	0.25579	1.79;1.79;1.79;1.79;1.79	5.97	4.97	0.65823	Elongator protein 3/MiaB/NifB (1);Radical SAM, alpha/beta horseshoe (1);Radical SAM (1);	0.293913	0.39985	N	0.001208	T	0.53899	0.1825	M	0.91510	3.215	0.53688	D	0.999977	D;D;D;D;D;D	0.89917	0.998;1.0;1.0;1.0;0.999;0.998	P;D;D;D;P;P	0.65443	0.731;0.935;0.935;0.935;0.894;0.827	T	0.61197	-0.7111	10	0.87932	D	0	-10.6536	9.2882	0.37771	0.0:0.1559:0.6825:0.1616	.	317;408;394;394;394;304	Q96SZ6-4;Q96SZ6;Q675N5;Q53H36;Q96SZ6-3;Q96SZ6-2	.;CK5P1_HUMAN;.;.;.;.	C	394;408;317;304;394	ENSP00000217372:R394C;ENSP00000350558:R408C;ENSP00000341840:R317C;ENSP00000408133:R304C;ENSP00000439034:R394C	ENSP00000341840:R317C	R	-	1	0	CDK5RAP1	31425607	0.994000	0.37717	1.000000	0.80357	0.982000	0.71751	2.202000	0.42743	2.820000	0.97059	0.655000	0.94253	CGT		0.502	CDK5RAP1-011	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000078697.1	NM_016408		61	372	0	0	0	1	0	61	372					A	31961946	G	A	31961946	3	1	186	1	0	0	0	0	1	0	0	0	3145	1116	39	2	607	2	CDK5RAP1	20	31961946	Missense_Mutation	SNP	G	TCGA-G9-7522-01A-11D-2260-08		31961946	31063574	19	8703											
SUN2	25777	broad.mit.edu	37	chr22	39134911	39134911	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cggggtgactgggagtggtaCcacagggggatgccgaagag	9	5	20	7	2	0	2	0	1	0	1	0	5	0	4	2	6	2	1	2	6	2	1			TCGA-G9-7522-01A-11D-2260-08	TCGA-G9-7522-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f54442d1-80fa-4678-ac94-c3ad03bc37fb	ba7eb48d-9486-45fc-9728-4ceeb9bdca09	g.chr22:39134911C>T	ENST00000405510.1	-	16	2104	c.1746G>A	c.(1744-1746)tgG>tgA	p.W582*	RP3-508I15.19_ENST00000418803.1_RNA|SUN2_ENST00000406622.1_Nonsense_Mutation_p.W582*|SUN2_ENST00000405018.1_Nonsense_Mutation_p.W603*|SUN2_ENST00000216064.4_Nonsense_Mutation_p.W582*|SUN2_ENST00000411587.2_Nonsense_Mutation_p.W571*|RP3-508I15.14_ENST00000416406.1_RNA|RP3-508I15.20_ENST00000609428.1_RNA|RP3-508I15.18_ENST00000420118.1_RNA	NM_001199580.1	NP_001186509.1	Q9UH99	SUN2_HUMAN	Sad1 and UNC84 domain containing 2	582	SUN. {ECO:0000255|PROSITE- ProRule:PRU00802}.				centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|mitotic spindle organization (GO:0007052)|nuclear envelope organization (GO:0006998)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)	condensed nuclear chromosome (GO:0000794)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|nuclear chromosome, telomeric region (GO:0000784)|nuclear envelope (GO:0005635)|nuclear inner membrane (GO:0005637)|nuclear membrane (GO:0031965)|SUN-KASH complex (GO:0034993)	identical protein binding (GO:0042802)|lamin binding (GO:0005521)|microtubule binding (GO:0008017)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|skin(2)|stomach(1)	15						GGGAGTGGTACCACAGGGGGA	0.637																																						ENST00000405510.1																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|skin(2)|stomach(1)	15						c.(1744-1746)tgG>tgA		Sad1 and UNC84 domain containing 2							76	74	75					22																	39134911		2202	4300	6502	SO:0001587	stop_gained	25777				centrosome localization|cytoskeletal anchoring at nuclear membrane|mitotic spindle organization|nuclear envelope organization|nuclear matrix anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	endosome membrane|integral to membrane|nuclear inner membrane|SUN-KASH complex	lamin binding|microtubule binding	g.chr22:39134911C>T	AF202723	CCDS13978.1, CCDS56231.1	22q12-q13	2010-05-18	2010-05-18	2010-01-27	ENSG00000100242	ENSG00000100242			14210	protein-coding gene	gene with protein product		613569	"unc-84 homolog B (C. elegans)"	UNC84B		10508607, 10375507	Standard	NM_015374		Approved		uc010gxq.2	Q9UH99	OTTHUMG00000151031	ENST00000405510.1:c.1746G>A	22.37:g.39134911C>T	ENSP00000385740:p.Trp582*					SUN2_ENST00000406622.1_Nonsense_Mutation_p.W582*|SUN2_ENST00000405018.1_Nonsense_Mutation_p.W603*|SUN2_ENST00000216064.4_Nonsense_Mutation_p.W582*|RP3-508I15.19_ENST00000418803.1_RNA|SUN2_ENST00000411587.2_Nonsense_Mutation_p.W571*	p.W582*	NM_001199580.1	NP_001186509.1	Q9UH99	SUN2_HUMAN			16	2104	-			582			SUN.		B0QY62|O75156|Q2NKN8|Q2T9F7|Q504T5|Q6B4H1|Q7Z3E3	Nonsense_Mutation	SNP	ENST00000405510.1	37	c.1746G>A	CCDS13978.1	.	.	.	.	.	.	.	.	.	.	C	41	8.857457	0.98980	.	.	ENSG00000100242	ENST00000405510;ENST00000216064;ENST00000405018;ENST00000406622;ENST00000411587;ENST00000455125	.	.	.	5.49	5.49	0.81192	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-16.2867	19.3569	0.94418	0.0:1.0:0.0:0.0	.	.	.	.	X	582;582;603;582;571;55	.	ENSP00000216064:W582X	W	-	3	0	SUN2	37464857	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.796000	0.85898	2.582000	0.87167	0.462000	0.41574	TGG		0.637	SUN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321057.1	XM_039332		10	56	0	0	0	1	0	10	56					T	39134911	C	T	39134911	4	4	186	1	0	0	0	0	0	1	0	0	15389	508	18	3	423	3	SUN2	22	39134911	Nonsense_Mutation	SNP	C	TCGA-G9-7522-01A-11D-2260-08		39134911	12169655	20	8704											
SERHL2	253190	broad.mit.edu	37	chr22	42967138	42967138	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tctctgcaggcagagaacagCattgacttcatcagcaggga	12	8	11	10	0	3	2	2	1	1	1	4	4	3	3	0	2	4	4	0	2	1	2			TCGA-G9-7522-01A-11D-2260-08	TCGA-G9-7522-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f54442d1-80fa-4678-ac94-c3ad03bc37fb	ba7eb48d-9486-45fc-9728-4ceeb9bdca09	g.chr22:42967138C>A	ENST00000327678.5	+	10	762	c.660C>A	c.(658-660)agC>agA	p.S220R	RNU6-513P_ENST00000516104.1_RNA|SERHL2_ENST00000407614.4_Missense_Mutation_p.S40R|SERHL2_ENST00000340239.4_Missense_Mutation_p.A182E|SERHL2_ENST00000335879.5_Missense_Mutation_p.S156R|RRP7B_ENST00000357802.2_RNA	NM_014509.3	NP_055324.2	Q9NQF3	SERHL_HUMAN	serine hydrolase-like 2	0							hydrolase activity (GO:0016787)			breast(1)|endometrium(2)|lung(3)|skin(1)|stomach(1)	8						CAGAGAACAGCATTGACTTCA	0.537																																						ENST00000327678.5																			0				breast(1)|endometrium(2)|lung(3)|skin(1)|stomach(1)	8						c.(658-660)agC>agA		serine hydrolase-like 2							140	108	119					22																	42967138		2203	4300	6503	SO:0001583	missense	253190					perinuclear region of cytoplasm|peroxisome	hydrolase activity	g.chr22:42967138C>A		CCDS14037.1, CCDS63498.1	22q13	2005-08-09			ENSG00000183569	ENSG00000183569			29446	protein-coding gene	gene with protein product							Standard	NM_014509		Approved		uc003bcr.3	Q9H4I8	OTTHUMG00000150892	ENST00000327678.5:c.660C>A	22.37:g.42967138C>A	ENSP00000331376:p.Ser220Arg					SERHL2_ENST00000407614.4_Missense_Mutation_p.S40R|RRP7B_ENST00000357802.2_RNA|SERHL2_ENST00000340239.4_Missense_Mutation_p.A182E|SERHL2_ENST00000335879.5_Missense_Mutation_p.S156R	p.S220R	NM_014509.3	NP_055324.2	Q9H4I8	SEHL2_HUMAN			10	762	+			220					Q5JZ95|Q9UH21	Missense_Mutation	SNP	ENST00000327678.5	37	c.660C>A	CCDS14037.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.17|11.17	1.558715|1.558715	0.27827|0.27827	.|.	.|.	ENSG00000183569|ENSG00000183569	ENST00000340239|ENST00000327678;ENST00000356720;ENST00000407614;ENST00000335879	T|T;T;T	0.20598|0.15256	2.06|2.44;2.44;2.44	2.74|2.74	1.71|1.71	0.24356|0.24356	.|.	.|0.352686	.|0.28889	.|N	.|0.013801	T|T	0.27832|0.27832	0.0685|0.0685	L|L	0.60455|0.60455	1.87|1.87	0.09310|0.09310	N|N	1|1	.|D;P;D	.|0.60575	.|0.988;0.894;0.973	.|P;P;P	.|0.59357	.|0.856;0.755;0.697	T|T	0.05716|0.05716	-1.0868|-1.0868	7|10	0.05351|0.37606	T|T	0.99|0.19	.|.	8.6298|8.6298	0.33913|0.33913	0.0:0.8689:0.0:0.1311|0.0:0.8689:0.0:0.1311	.|.	.|237;156;220	.|B4DHQ4;Q9H4I8-2;Q9H4I8	.|.;.;SEHL2_HUMAN	E|R	182|220;40;40;156	ENSP00000342425:A182E|ENSP00000331376:S220R;ENSP00000385691:S40R;ENSP00000336578:S156R	ENSP00000342425:A182E|ENSP00000331376:S220R	A|S	+|+	2|3	0|2	SERHL2|SERHL2	41297082|41297082	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.000000|0.000000	0.00434|0.00434	-0.157000|-0.157000	0.10085|0.10085	0.231000|0.231000	0.21079|0.21079	-1.626000|-1.626000	0.00786|0.00786	GCA|AGC		0.537	SERHL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320454.1	NM_014509		3	102	1	0	1	1	1	3	102					A	42967138	C	A	42967138	3	1	186	1	0	0	0	0	1	0	0	0	14078	709	25	5	698	5	SERHL2	22	42967138	Missense_Mutation	SNP	C	TCGA-G9-7522-01A-11D-2260-08	3832227	42967138	8337428	21	8705											
DNASE1L1	1774	broad.mit.edu	37	chrX	153631329	153631329	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tggggaagtcaaaggcagccGcagtgtgcagcagactccgg	10	5	16	10	2	1	1	1	0	0	1	2	2	2	2	2	4	3	4	2	4	2	0			TCGA-G9-7522-01A-11D-2260-08	TCGA-G9-7522-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f54442d1-80fa-4678-ac94-c3ad03bc37fb	ba7eb48d-9486-45fc-9728-4ceeb9bdca09	g.chrX:153631329G>A	ENST00000393638.1	-	7	1014	c.728C>T	c.(727-729)gCg>gTg	p.A243V	DNASE1L1_ENST00000369809.1_Missense_Mutation_p.A243V|SNORA70_ENST00000384436.1_RNA	NM_001009934.1	NP_001009934.1	P49184	DNSL1_HUMAN	deoxyribonuclease I-like 1	243					DNA metabolic process (GO:0006259)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)	deoxyribonuclease activity (GO:0004536)|DNA binding (GO:0003677)|endodeoxyribonuclease activity, producing 5'-phosphomonoesters (GO:0016888)			lung(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					AAAGGCAGCCGCAGTGTGCAG	0.657																																						ENST00000369809.1																			0				lung(6)	6						c.(727-729)gCg>gTg		deoxyribonuclease I-like 1							42	39	40					X																	153631329		2203	4298	6501	SO:0001583	missense	1774				DNA catabolic process	endoplasmic reticulum	DNA binding|endodeoxyribonuclease activity, producing 5'-phosphomonoesters	g.chrX:153631329G>A	L40817	CCDS14747.1	Xq28	2008-02-05			ENSG00000013563	ENSG00000013563			2957	protein-coding gene	gene with protein product	"DNase X"	300081		DNL1L		8541839, 8654957	Standard	XM_005277829		Approved	DNAS1L1, XIB, DNASEX	uc004fkw.1	P49184	OTTHUMG00000033188	ENST00000393638.1:c.728C>T	X.37:g.153631329G>A	ENSP00000377255:p.Ala243Val					DNASE1L1_ENST00000393638.1_Missense_Mutation_p.A243V	p.A243V	NM_001009932.1	NP_001009932.1	P49184	DNSL1_HUMAN			9	1357	-	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)		243					D3DWW7|Q5HY41	Missense_Mutation	SNP	ENST00000393638.1	37	c.728C>T	CCDS14747.1	.	.	.	.	.	.	.	.	.	.	G	16.71	3.199029	0.58126	.	.	ENSG00000013563	ENST00000369809;ENST00000393638;ENST00000014935;ENST00000369808;ENST00000369807;ENST00000309585	T;T;T;T;T;T	0.32272	1.46;1.46;1.46;1.46;1.46;1.46	3.3	3.3	0.37823	Endonuclease/exonuclease/phosphatase (2);	0.057503	0.64402	D	0.000002	T	0.38480	0.1042	M	0.78285	2.405	0.09310	N	1	D	0.53462	0.96	P	0.47134	0.539	T	0.35500	-0.9786	10	0.62326	D	0.03	-13.2073	9.2198	0.37370	0.0:0.0:1.0:0.0	.	243	P49184	DNSL1_HUMAN	V	243	ENSP00000358824:A243V;ENSP00000377255:A243V;ENSP00000014935:A243V;ENSP00000358823:A243V;ENSP00000358822:A243V;ENSP00000309168:A243V	ENSP00000014935:A243V	A	-	2	0	DNASE1L1	153284523	0.498000	0.26075	0.007000	0.13788	0.003000	0.03518	3.019000	0.49635	1.912000	0.55364	0.597000	0.82753	GCG		0.657	DNASE1L1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080928.2			3	77	0	0	0	1	0	3	77					A	153631329	G	A	153631329	3	1	186	1	0	0	0	0	1	0	0	0	4661	1087	38	1	188	1	DNASE1L1	23	153631329	Missense_Mutation	SNP	G	TCGA-G9-7522-01A-11D-2260-08		153631329	1639231	22	8706											
MTF1	4520	broad.mit.edu	37	chr1	38288086	38288086	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tcctggtacaatgggctgcgGtgcctgggggtgcggaagaa	7	8	18	8	2	0	1	0	0	0	1	1	2	1	2	2	6	4	2	2	6	4	1			TCGA-G9-7523-01A-11D-2260-08	TCGA-G9-7523-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e100b0-9027-432d-9ab6-2690e7753289	0b92342c-e2a3-4f38-9ed1-bd7f1aac35f7	g.chr1:38288086G>A	ENST00000373036.4	-	9	1614	c.1474C>T	c.(1474-1476)Ccg>Tcg	p.P492S		NM_005955.2	NP_005946.2	Q14872	MTF1_HUMAN	metal-regulatory transcription factor 1	492	Pro-rich.				positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to cadmium ion (GO:0046686)|response to metal ion (GO:0010038)|response to oxidative stress (GO:0006979)	nucleus (GO:0005634)	core promoter binding (GO:0001047)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			endometrium(3)|kidney(5)|large_intestine(6)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(1)	31	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				ATGGGCTGCGGTGCCTGGGGG	0.572																																						ENST00000373036.4																			0				endometrium(3)|kidney(5)|large_intestine(6)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(1)	31						c.(1474-1476)Ccg>Tcg		metal-regulatory transcription factor 1							42	40	41					1																	38288086		2203	4300	6503	SO:0001583	missense	4520					nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|zinc ion binding	g.chr1:38288086G>A	BC014454	CCDS30676.1	1p33	2008-02-05			ENSG00000188786	ENSG00000188786			7428	protein-coding gene	gene with protein product		600172				8065932	Standard	NM_005955		Approved		uc001cce.1	Q14872	OTTHUMG00000004439	ENST00000373036.4:c.1474C>T	1.37:g.38288086G>A	ENSP00000362127:p.Pro492Ser						p.P492S	NM_005955.2	NP_005946.2	Q14872	MTF1_HUMAN			9	1614	-	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)	492			Pro-rich.		B2RAK6|Q96CB1	Missense_Mutation	SNP	ENST00000373036.4	37	c.1474C>T	CCDS30676.1	.	.	.	.	.	.	.	.	.	.	G	11.68	1.712179	0.30322	.	.	ENSG00000188786	ENST00000373036	T	0.09817	2.94	6.17	5.25	0.73442	.	0.334492	0.36167	N	0.002757	T	0.09423	0.0232	L	0.38838	1.175	0.41763	D	0.989722	B	0.28713	0.22	B	0.25140	0.058	T	0.22417	-1.0217	10	0.23891	T	0.37	.	12.3594	0.55194	0.0:0.1285:0.7378:0.1337	.	492	Q14872	MTF1_HUMAN	S	492	ENSP00000362127:P492S	ENSP00000362127:P492S	P	-	1	0	MTF1	38060673	1.000000	0.71417	0.941000	0.38009	0.918000	0.54935	4.927000	0.63440	1.586000	0.49944	0.655000	0.94253	CCG		0.572	MTF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012984.2	NM_005955		3	33	0	0	0	1	0	3	33					A	38288086	G	A	38288086	3	1	187	1	0	0	0	0	1	0	0	0	9922	1261	44	3	799	3	MTF1	1	38288086	Missense_Mutation	SNP	G	TCGA-G9-7523-01A-11D-2260-08		38288086	210962535	1	8707											
IPP	3652	broad.mit.edu	37	chr1	46184897	46184898	+	Frame_Shift_Del	DEL	AC	AC	-																															aaagcatagatagccccataAcacacacacactcctaagcc																								rs144663569		TCGA-G9-7523-01A-11D-2260-08	TCGA-G9-7523-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e100b0-9027-432d-9ab6-2690e7753289	0b92342c-e2a3-4f38-9ed1-bd7f1aac35f7	g.chr1:46184897_46184898delAC	ENST00000396478.3	-	6	1265_1266	c.1163_1164delGT	c.(1162-1164)tgtfs	p.C388fs		NM_005897.2	NP_005888.1	Q9Y573	IPP_HUMAN	intracisternal A particle-promoted polypeptide	388						actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	actin binding (GO:0003779)			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|stomach(2)	20	Acute lymphoblastic leukemia(166;0.155)					TAGCCCCATAACACACACACAC	0.347																																						ENST00000396478.3																			0				central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|stomach(2)	20						c.(1162-1164)tfs		intracisternal A particle-promoted polypeptide																																				SO:0001589	frameshift_variant	3652					actin cytoskeleton|cytoplasm	actin binding	g.chr1:46184897_46184898delAC	BC032544	CCDS30702.1, CCDS44132.1	1p34-p32	2013-01-30			ENSG00000197429	ENSG00000197429		"Kelch-like", "BTB/POZ domain containing"	6108	protein-coding gene	gene with protein product	"kelch-like family member 27"	147485				1905535, 8432546	Standard	NM_005897		Approved	KLHL27	uc001cou.3	Q9Y573	OTTHUMG00000008004	ENST00000396478.3:c.1163_1164delGT	1.37:g.46184907_46184908delAC	ENSP00000379739:p.Cys388fs						p.C388fs	NM_005897.2	NP_005888.1	Q9Y573	IPP_HUMAN			6	1265_1266	-	Acute lymphoblastic leukemia(166;0.155)		388					A2A6V4|D3DQ11|Q8N5C3	Frame_Shift_Del	DEL	ENST00000396478.3	37	c.1163_1164delGT	CCDS30702.1																																																																																				0.347	IPP-001	KNOWN	mRNA_end_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021974.3	NM_005897		7	176						7	176	---	---	---	---	-	46184898	AC	-	46184897	7	5	187	1	0	1	0	1	0	0	0	0	7800	41	2	0	708	0	IPP	1	46184897	Frame_Shift_Del	DEL	AC	TCGA-G9-7523-01A-11D-2260-08	7896811	46184897	203065724	2	8708											
RGL1	23179	broad.mit.edu	37	chr1	183711406	183711406	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gatcatgttcgaatatgggaAgttttaaagacagaggaggt	14	11	13	3	1	1	2	1	0	0	2	2	6	1	4	0	3	0	2	0	3	5	4			TCGA-G9-7523-01A-11D-2260-08	TCGA-G9-7523-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e100b0-9027-432d-9ab6-2690e7753289	0b92342c-e2a3-4f38-9ed1-bd7f1aac35f7	g.chr1:183711406A>C	ENST00000304685.4	+	2	563	c.114A>C	c.(112-114)gaA>gaC	p.E38D	RGL1_ENST00000536277.1_Missense_Mutation_p.E38D	NM_015149.3	NP_055964.3	Q9NZL6	RGL1_HUMAN	ral guanine nucleotide dissociation stimulator-like 1	0					cellular lipid metabolic process (GO:0044255)|positive regulation of Ral GTPase activity (GO:0032852)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	Ral guanyl-nucleotide exchange factor activity (GO:0008321)			breast(5)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(17)|ovary(4)|prostate(3)|stomach(1)	51						GAATATGGGAAGTTTTAAAGA	0.428																																						ENST00000304685.3																			0				breast(5)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(17)|ovary(4)|prostate(3)|stomach(1)	51						c.(112-114)gaA>gaC		ral guanine nucleotide dissociation stimulator-like 1							109	107	107					1																	183711406		2203	4300	6503	SO:0001583	missense	23179				cellular lipid metabolic process|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	protein binding|Ral guanyl-nucleotide exchange factor activity	g.chr1:183711406A>C	AF186780	CCDS1359.1, CCDS72992.1	1q25.2	2008-02-05			ENSG00000143344	ENSG00000143344			30281	protein-coding gene	gene with protein product		605667				10760592, 10231032	Standard	XM_005245010		Approved	RGL	uc001gqm.3	Q9NZL6	OTTHUMG00000035328	ENST00000304685.4:c.114A>C	1.37:g.183711406A>C	ENSP00000303192:p.Glu38Asp					RGL1_ENST00000536277.1_Missense_Mutation_p.E38D|RGL1_ENST00000367531.1_Missense_Mutation_p.E38D	p.E38D	NM_015149.3	NP_055964.3	Q9NZL6	RGL1_HUMAN			2	575	+			0					Q5SXQ2|Q5SXQ6|Q9HBY3|Q9HBY4|Q9NZL5|Q9UG43|Q9Y2G6	Missense_Mutation	SNP	ENST00000304685.4	37	c.114A>C	CCDS1359.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	10.57|10.57	1.387742|1.387742	0.25031|0.25031	.|.	.|.	ENSG00000143344|ENSG00000143344	ENST00000304685;ENST00000367531;ENST00000536277|ENST00000543395	T;T;T|.	0.51071|.	0.89;0.89;0.72|.	5.09|5.09	-1.36|-1.36	0.09085|0.09085	.|.	1.427110|.	0.04397|.	N|.	0.363529|.	T|T	0.24586|0.24586	0.0596|0.0596	N|N	0.08118|0.08118	0|0	0.80722|0.80722	D|D	1|1	B;B|B	0.02656|0.02656	0.0;0.0|0.0	B;B|B	0.04013|0.01281	0.001;0.001|0.0	T|T	0.10776|0.10776	-1.0615|-1.0615	10|8	0.11794|0.87932	T|D	0.64|0	.|.	1.238|1.238	0.01957|0.01957	0.3868:0.3024:0.0969:0.2139|0.3868:0.3024:0.0969:0.2139	.|.	38;38|3	B7Z2W5;Q5SXQ6|F5H3C3	.;.|.	D|R	38|3	ENSP00000303192:E38D;ENSP00000356501:E38D;ENSP00000438662:E38D|.	ENSP00000303192:E38D|ENSP00000439193:S3R	E|S	+|+	3|1	2|0	RGL1|RGL1	181978029|181978029	0.995000|0.995000	0.38212|0.38212	0.998000|0.998000	0.56505|0.56505	0.999000|0.999000	0.98932|0.98932	0.072000|0.072000	0.14617|0.14617	0.015000|0.015000	0.14971|0.14971	0.528000|0.528000	0.53228|0.53228	GAA|AGT		0.428	RGL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000085481.3	NM_015149		4	159	0	0	0	1	0	4	159					C	183711406	A	C	183711406	3	2	187	1	0	0	0	0	1	0	0	0	13276	69	3	5	116	5	RGL1	1	183711406	Missense_Mutation	SNP	A	TCGA-G9-7523-01A-11D-2260-08	137526509	183711406	65539215	3	8709											
C2orf76	130355	broad.mit.edu	37	chr2	120078761	120078761	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tttctgaatggtggtggcagGttggtccttaaagggatatc	8	14	14	5	0	1	1	0	1	1	0	3	2	2	2	1	6	0	2	1	6	4	4			TCGA-G9-7523-01A-11D-2260-08	TCGA-G9-7523-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e100b0-9027-432d-9ab6-2690e7753289	0b92342c-e2a3-4f38-9ed1-bd7f1aac35f7	g.chr2:120078761G>A	ENST00000409466.2	-	4	674	c.153C>T	c.(151-153)aaC>aaT	p.N51N	C2orf76_ENST00000409523.1_Silent_p.N51N|C2orf76_ENST00000409877.1_Silent_p.N51N|C2orf76_ENST00000334816.7_Silent_p.N51N			Q3KRA6	CB076_HUMAN	chromosome 2 open reading frame 76	51										large_intestine(1)|lung(3)|pancreas(1)	5						GTGGTGGCAGGTTGGTCCTTA	0.264																																						ENST00000409466.2																			0				large_intestine(1)|lung(3)|pancreas(1)	5						c.(151-153)aaC>aaT		chromosome 2 open reading frame 76							80	76	77					2																	120078761		1786	4061	5847	SO:0001819	synonymous_variant	130355							g.chr2:120078761G>A		CCDS42739.1	2q14.2	2011-05-09			ENSG00000186132	ENSG00000186132			27017	protein-coding gene	gene with protein product						12477932	Standard	NM_001017927		Approved	MGC104437, LOC130355, AIM29	uc002tls.2	Q3KRA6	OTTHUMG00000153298	ENST00000409466.2:c.153C>T	2.37:g.120078761G>A						C2orf76_ENST00000409877.1_Silent_p.N51N|C2orf76_ENST00000409523.1_Silent_p.N51N|C2orf76_ENST00000334816.7_Silent_p.N51N	p.N51N			Q3KRA6	CB076_HUMAN			4	674	-			51					B7ZLS8|Q4VC35	Silent	SNP	ENST00000409466.2	37	c.153C>T	CCDS42739.1																																																																																				0.264	C2orf76-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330582.2	NM_001017927		12	62	0	0	0	1	0	12	62					A	120078761	G	A	120078761	2	1	187	1	0	0	0	0	0	0	0	1	2193	1252	44	3		3	C2orf76	2	120078761	Silent	SNP	G	TCGA-G9-7523-01A-11D-2260-08		120078761	123120612	4	8710											
RAPGEF4	11069	broad.mit.edu	37	chr2	173832057	173832057	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggatgatgagcacgaggatGcccctttgcctactgaggag	9	9	14	9	1	0	3	0	3	0	0	0	7	0	6	3	3	4	1	3	3	1	2			TCGA-G9-7523-01A-11D-2260-08	TCGA-G9-7523-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e100b0-9027-432d-9ab6-2690e7753289	0b92342c-e2a3-4f38-9ed1-bd7f1aac35f7	g.chr2:173832057G>T	ENST00000397081.3	+	10	1032	c.889G>T	c.(889-891)Gcc>Tcc	p.A297S	RAPGEF4_ENST00000540783.1_Missense_Mutation_p.A144S|RAPGEF4_ENST00000397087.3_Missense_Mutation_p.A153S|RAPGEF4_ENST00000264111.6_Missense_Mutation_p.A296S|RAPGEF4_ENST00000538974.1_Missense_Mutation_p.A126S|RAPGEF4_ENST00000409036.1_Missense_Mutation_p.A297S|RAPGEF4_ENST00000535187.1_Missense_Mutation_p.A77S|RAPGEF4_ENST00000473043.1_3'UTR|RAPGEF4_ENST00000539331.1_Missense_Mutation_p.A144S	NM_007023.3	NP_008954.2	Q8WZA2	RPGF4_HUMAN	Rap guanine nucleotide exchange factor (GEF) 4	297					blood coagulation (GO:0007596)|calcium ion-dependent exocytosis (GO:0017156)|cAMP-mediated signaling (GO:0019933)|energy reserve metabolic process (GO:0006112)|G-protein coupled receptor signaling pathway (GO:0007186)|insulin secretion (GO:0030073)|platelet activation (GO:0030168)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Ras GTPase activity (GO:0032320)|regulation of exocytosis (GO:0017157)|regulation of insulin secretion (GO:0050796)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	cAMP-dependent protein kinase complex (GO:0005952)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|cAMP-dependent protein kinase regulator activity (GO:0008603)|guanyl-nucleotide exchange factor activity (GO:0005085)|Ras GTPase binding (GO:0017016)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(14)|lung(13)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	47			OV - Ovarian serous cystadenocarcinoma(117;0.194)			GCACGAGGATGCCCCTTTGCC	0.522																																						ENST00000264111.6																			0				breast(1)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(14)|lung(13)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						c.(886-888)Gcc>Tcc		Rap guanine nucleotide exchange factor (GEF) 4							55	57	57					2																	173832057		2083	4226	6309	SO:0001583	missense	11069				blood coagulation|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|regulation of insulin secretion|regulation of protein phosphorylation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cAMP-dependent protein kinase complex|membrane fraction|plasma membrane	cAMP binding|cAMP-dependent protein kinase regulator activity|Ras GTPase binding|Ras guanyl-nucleotide exchange factor activity	g.chr2:173832057G>T	U78516	CCDS42775.1, CCDS42776.1, CCDS63060.1, CCDS63061.1, CCDS74604.1	2q31-q32	2008-02-05	2004-03-26		ENSG00000091428	ENSG00000091428			16626	protein-coding gene	gene with protein product	"cAMP-regulated guanine nucleotide exchange factor II", " exchange protein directly activated by cAMP 2"	606058	"RAP guanine-nucleotide-exchange factor (GEF) 4"			10777494, 9856955	Standard	NM_007023		Approved	cAMP-GEFII, CGEF2	uc002uhv.4	Q8WZA2	OTTHUMG00000133677	ENST00000397081.3:c.889G>T	2.37:g.173832057G>T	ENSP00000380271:p.Ala297Ser					RAPGEF4_ENST00000540783.1_Missense_Mutation_p.A144S|RAPGEF4_ENST00000538974.1_Missense_Mutation_p.A126S|RAPGEF4_ENST00000473043.1_3'UTR|RAPGEF4_ENST00000409036.1_Missense_Mutation_p.A297S|RAPGEF4_ENST00000539331.1_Missense_Mutation_p.A144S|RAPGEF4_ENST00000397081.3_Missense_Mutation_p.A297S|RAPGEF4_ENST00000397087.3_Missense_Mutation_p.A153S|RAPGEF4_ENST00000535187.1_Missense_Mutation_p.A77S	p.A296S			Q8WZA2	RPGF4_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.194)		10	1073	+			297					B2R7R3|B7Z283|B7Z3T6|B7Z912|O95636|Q8IXK6|Q8TAA4	Missense_Mutation	SNP	ENST00000397081.3	37	c.886G>T	CCDS42775.1	.	.	.	.	.	.	.	.	.	.	G	16.15	3.040438	0.55003	.	.	ENSG00000091428	ENST00000264111;ENST00000397081;ENST00000409036;ENST00000397087;ENST00000538974;ENST00000540783;ENST00000539331;ENST00000539767;ENST00000535187	T;T;T;T;T;T;T;T	0.12984	2.63;2.63;2.63;2.63;2.63;2.63;2.63;2.63	5.31	5.31	0.75309	Winged helix-turn-helix transcription repressor DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.12305	0.0299	L	0.29908	0.895	0.80722	D	1	B;B;B;B;B	0.18610	0.0;0.001;0.029;0.007;0.024	B;B;B;B;B	0.16289	0.002;0.001;0.015;0.009;0.007	T	0.13548	-1.0505	10	0.17832	T	0.49	.	18.9765	0.92738	0.0:0.0:1.0:0.0	.	124;126;153;297;297	B7Z805;B7Z2R0;Q8WZA2-3;Q8WZA2;E9PB94	.;.;.;RPGF4_HUMAN;.	S	296;297;297;153;126;144;144;124;77	ENSP00000264111:A296S;ENSP00000380271:A297S;ENSP00000387104:A297S;ENSP00000380276:A153S;ENSP00000440135:A126S;ENSP00000440250:A144S;ENSP00000437384:A144S;ENSP00000438011:A77S	ENSP00000264111:A296S	A	+	1	0	RAPGEF4	173540303	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	6.583000	0.74053	2.478000	0.83669	0.561000	0.74099	GCC		0.522	RAPGEF4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257864.2	NM_007023		10	26	1	0	0.000442599	1	0.000460788	10	26					T	173832057	G	T	173832057	3	4	187	1	0	0	0	0	1	0	0	0	13046	1319	46	5	943	5	RAPGEF4	2	173832057	Missense_Mutation	SNP	G	TCGA-G9-7523-01A-11D-2260-08	53753296	173832057	69367316	5	8711											
SP3	6670	broad.mit.edu	37	chr2	174777809	174777809	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	attagtaacctgtatgtgttCttctgtgcctctgtaattca	8	18	7	8	0	4	0	1	0	3	0	4	0	4	0	2	0	2	4	2	0	4	7			TCGA-G9-7523-01A-11D-2260-08	TCGA-G9-7523-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e100b0-9027-432d-9ab6-2690e7753289	0b92342c-e2a3-4f38-9ed1-bd7f1aac35f7	g.chr2:174777809C>G	ENST00000310015.6	-	6	2548	c.2018G>C	c.(2017-2019)aGa>aCa	p.R673T	SP3_ENST00000455789.2_Missense_Mutation_p.R620T|SP3_ENST00000418194.2_Missense_Mutation_p.R605T	NM_001172712.1|NM_003111.4	NP_001166183.1|NP_003102.1	Q02447	SP3_HUMAN	Sp3 transcription factor	673					B cell differentiation (GO:0030183)|definitive hemopoiesis (GO:0060216)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic placenta development (GO:0001892)|embryonic process involved in female pregnancy (GO:0060136)|embryonic skeletal system development (GO:0048706)|enucleate erythrocyte differentiation (GO:0043353)|granulocyte differentiation (GO:0030851)|liver development (GO:0001889)|lung development (GO:0030324)|megakaryocyte differentiation (GO:0030219)|monocyte differentiation (GO:0030224)|natural killer cell differentiation (GO:0001779)|negative regulation of transcription, DNA-templated (GO:0045892)|ossification (GO:0001503)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|T cell differentiation (GO:0030217)|trophectodermal cell differentiation (GO:0001829)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|double-stranded DNA binding (GO:0003690)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)		EWSR1/SP3(3)	NS(2)|large_intestine(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	9			OV - Ovarian serous cystadenocarcinoma(117;0.185)			TGTATGTGTTCTTCTGTGCCT	0.368																																						ENST00000310015.6																		EWSR1/SP3(3)	0				NS(2)|large_intestine(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	9						c.(2017-2019)aGa>aCa		Sp3 transcription factor							93	87	89					2																	174777809		2203	4300	6503	SO:0001583	missense	6670				negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	PML body	protein binding|zinc ion binding	g.chr2:174777809C>G	M97191	CCDS2254.1, CCDS46452.1	2q31	2013-01-08			ENSG00000172845	ENSG00000172845		"Specificity protein transcription factors", "Zinc fingers, C2H2-type"	11208	protein-coding gene	gene with protein product		601804				1341900, 1454515	Standard	NM_003111		Approved	SPR-2	uc002uig.3	Q02447	OTTHUMG00000132333	ENST00000310015.6:c.2018G>C	2.37:g.174777809C>G	ENSP00000310301:p.Arg673Thr					SP3_ENST00000418194.2_Missense_Mutation_p.R605T|SP3_ENST00000455789.2_Missense_Mutation_p.R620T	p.R673T	NM_001172712.1|NM_003111.4	NP_001166183.1|NP_003102.1	Q02447	SP3_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.185)		6	2548	-			673					A0AVL9|B4E2B7|Q69B26|Q69B27|Q8TD56|Q8WWU4|Q9BQR1	Missense_Mutation	SNP	ENST00000310015.6	37	c.2018G>C	CCDS2254.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.3|20.3	3.968560|3.968560	0.74131|0.74131	.|.	.|.	ENSG00000172845|ENSG00000172845	ENST00000416195|ENST00000310015;ENST00000455789;ENST00000418194	.|T;T;T	.|0.25414	.|1.8;1.8;1.8	5.71|5.71	5.71|5.71	0.89125|0.89125	.|Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.|0.041854	.|0.85682	.|D	.|0.000000	T|T	0.48642|0.48642	0.1511|0.1511	M|M	0.66378|0.66378	2.025|2.025	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.65815	.|0.992;0.995;0.983	.|D;P;D	.|0.67548	.|0.952;0.892;0.92	T|T	0.45745|0.45745	-0.9240|-0.9240	5|10	.|0.87932	.|D	.|0	.|.	15.0405|15.0405	0.71788|0.71788	0.0:0.9302:0.0:0.0698|0.0:0.9302:0.0:0.0698	.|.	.|670;673;620	.|B7ZLN9;Q02447;Q02447-6	.|.;SP3_HUMAN;.	Q|T	630|673;620;605	.|ENSP00000310301:R673T;ENSP00000388903:R620T;ENSP00000406140:R605T	.|ENSP00000310301:R673T	E|R	-|-	1|2	0|0	SP3|SP3	174486055|174486055	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	7.818000|7.818000	0.86416|0.86416	2.701000|2.701000	0.92244|0.92244	0.563000|0.563000	0.77884|0.77884	GAA|AGA		0.368	SP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255452.1	NM_003111		4	74	0	0	0	1	0	4	74					G	174777809	C	G	174777809	3	3	187	1	0	0	0	0	1	0	0	0	14965	913	32	5	335	5	SP3	2	174777809	Missense_Mutation	SNP	C	TCGA-G9-7523-01A-11D-2260-08	945752	174777809	68421564	6	8712											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-G9-7523-01A-11D-2260-08	TCGA-G9-7523-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e100b0-9027-432d-9ab6-2690e7753289	0b92342c-e2a3-4f38-9ed1-bd7f1aac35f7	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"isocitrate dehydrogenase 1 (NADP+), soluble"			O			gliobastoma		2835	Substitution - Missense(2834)|Complex - compound substitution(1)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)cGt>cAt		isocitrate dehydrogenase 1 (NADP+), soluble							79	73	75					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113112C>T		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His					IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	p.R132H			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	776	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.395G>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			23	93	0	0	0	1	0	23	93					T	209113112	C	T	209113112	3	4	187	1	0	0	0	0	1	0	0	0	7494	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-G9-7523-01A-11D-2260-08	34335303	209113112	34086261	7	8713											
WDR69	164781	broad.mit.edu	37	chr2	228786221	228786221	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctccaggttcttgaggggcAcactgatgaaatcttttcat	9	13	9	10	0	3	3	1	3	2	0	4	3	4	3	2	3	0	2	2	3	1	4			TCGA-G9-7523-01A-11D-2260-08	TCGA-G9-7523-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e100b0-9027-432d-9ab6-2690e7753289	0b92342c-e2a3-4f38-9ed1-bd7f1aac35f7	g.chr2:228786221A>C	ENST00000309931.2	+	12	1240	c.1157A>C	c.(1156-1158)cAc>cCc	p.H386P	DAW1_ENST00000373666.2_3'UTR|DAW1_ENST00000545118.1_Missense_Mutation_p.H371P	NM_178821.1	NP_849143.1	Q8N136	DAW1_HUMAN	dynein assembly factor with WDR repeat domains 1	386						cilium (GO:0005929)											CTTGAGGGGCACACTGATGAA	0.443																																						ENST00000309931.2																			0											c.(1156-1158)cAc>cCc		dynein assembly factor with WDR repeat domains 1							100	96	97					2																	228786221		2203	4300	6503	SO:0001583	missense	164781							g.chr2:228786221A>C		CCDS2470.1	2q36.3	2013-09-03	2013-02-19	2013-02-19	ENSG00000123977	ENSG00000123977		"WD repeat domain containing"	26383	protein-coding gene	gene with protein product	"outer row dynein assembly 16 homolog (Chlamydomonas)"		"WD repeat domain 69"	WDR69		20568242, 21953912	Standard	NM_178821		Approved	FLJ25955, ODA16	uc002vpn.1	Q8N136	OTTHUMG00000133190	ENST00000309931.2:c.1157A>C	2.37:g.228786221A>C	ENSP00000311899:p.His386Pro					DAW1_ENST00000373666.2_3'UTR|DAW1_ENST00000545118.1_Missense_Mutation_p.H371P	p.H386P	NM_178821.1	NP_849143.1					12	1240	+								Q6ZRY1|Q8N776	Missense_Mutation	SNP	ENST00000309931.2	37	c.1157A>C	CCDS2470.1	.	.	.	.	.	.	.	.	.	.	A	22.0	4.234253	0.79688	.	.	ENSG00000123977	ENST00000309931;ENST00000545118	T;T	0.81163	-1.46;-1.46	5.41	5.41	0.78517	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.301827	0.35320	N	0.003289	D	0.92146	0.7510	H	0.94542	3.55	0.80722	D	1	D	0.67145	0.996	D	0.74023	0.982	D	0.94188	0.7438	10	0.87932	D	0	.	14.6405	0.68720	1.0:0.0:0.0:0.0	.	386	Q8N136	WDR69_HUMAN	P	386;371	ENSP00000311899:H386P;ENSP00000437887:H371P	ENSP00000311899:H386P	H	+	2	0	WDR69	228494465	1.000000	0.71417	0.988000	0.46212	0.988000	0.76386	8.420000	0.90256	2.049000	0.60858	0.528000	0.53228	CAC		0.443	DAW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331745.1	NM_178821		7	102	0	0	0	1	0	7	102					C	228786221	A	C	228786221	3	2	187	1	0	0	0	0	1	0	0	0	17316	159	6	5	1203	5	WDR69	2	228786221	Missense_Mutation	SNP	A	TCGA-G9-7523-01A-11D-2260-08	19673109	228786221	14413152	8	8714											
NUP210	23225	broad.mit.edu	37	chr3	13407500	13407500	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcactcaggtggacgtggccGtgtctgtagctcacaagaag	9	8	14	10	2	3	1	2	0	1	1	3	2	3	2	1	3	1	3	1	3	3	1			TCGA-G9-7523-01A-11D-2260-08	TCGA-G9-7523-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e100b0-9027-432d-9ab6-2690e7753289	0b92342c-e2a3-4f38-9ed1-bd7f1aac35f7	g.chr3:13407500G>A	ENST00000254508.5	-	14	1960	c.1878C>T	c.(1876-1878)caC>caT	p.H626H		NM_024923.2	NP_079199.2	Q8TEM1	PO210_HUMAN	nucleoporin 210kDa	626					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)				NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	66	all_neural(104;0.187)					GGACGTGGCCGTGTCTGTAGC	0.637																																						ENST00000254508.5																			0				NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	66						c.(1876-1878)caC>caT		nucleoporin 210kDa							119	108	112					3																	13407500		2203	4300	6503	SO:0001819	synonymous_variant	23225				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore		g.chr3:13407500G>A	AB020713	CCDS33704.1	3p25	2008-02-05			ENSG00000132182	ENSG00000132182			30052	protein-coding gene	gene with protein product		607703				2184032, 7504063	Standard	NM_024923		Approved	GP210, POM210, FLJ22389, KIAA0906	uc003bxv.1	Q8TEM1	OTTHUMG00000157268	ENST00000254508.5:c.1878C>T	3.37:g.13407500G>A							p.H626H	NM_024923.2	NP_079199.2	Q8TEM1	PO210_HUMAN			14	1960	-	all_neural(104;0.187)		626					A6NN56|O94980|Q6NXG6|Q8NBJ1|Q9H6C8|Q9UFP3	Silent	SNP	ENST00000254508.5	37	c.1878C>T	CCDS33704.1																																																																																				0.637	NUP210-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340085.1	NM_024923		3	72	0	0	0	1	0	3	72					A	13407500	G	A	13407500	2	1	187	1	0	0	0	0	0	0	0	1	10760	1136	40	1		1	NUP210	3	13407500	Silent	SNP	G	TCGA-G9-7523-01A-11D-2260-08		13407500	184614930	9	8715											
EOMES	8320	broad.mit.edu	37	chr3	27763405	27763406	+	In_Frame_Ins	INS	-	-	GCG																															agcgcgcagtggccgcagccINSgcggcggcggcggcggcggc																								rs34467870	byFrequency	TCGA-G9-7523-01A-11D-2260-08	TCGA-G9-7523-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e100b0-9027-432d-9ab6-2690e7753289	0b92342c-e2a3-4f38-9ed1-bd7f1aac35f7	g.chr3:27763405_27763406insGCG	ENST00000295743.4	-	1	583_584	c.380_381insCGC	c.(379-381)gcg>gcCGCg	p.127_127A>AA	EOMES_ENST00000461503.1_Intron|EOMES_ENST00000449599.1_In_Frame_Ins_p.127_127A>AA|EOMES_ENST00000537516.1_Intron			O95936	EOMES_HUMAN	eomesodermin	127	Ala-rich.				brain development (GO:0007420)|cardioblast differentiation (GO:0010002)|CD8-positive, alpha-beta T cell differentiation involved in immune response (GO:0002302)|cell differentiation involved in embryonic placenta development (GO:0060706)|cerebral cortex neuron differentiation (GO:0021895)|cerebral cortex regionalization (GO:0021796)|endoderm formation (GO:0001706)|endodermal cell fate specification (GO:0001714)|interferon-gamma production (GO:0032609)|mesoderm formation (GO:0001707)|mesodermal to mesenchymal transition involved in gastrulation (GO:0060809)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|olfactory bulb development (GO:0021772)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of neuron differentiation (GO:0045664)|skeletal muscle cell differentiation (GO:0035914)|stem cell maintenance (GO:0019827)|trophectodermal cell differentiation (GO:0001829)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(3)|prostate(1)	21						tggccgcagccgcggcggcggc	0.772														63	0.0125799	0.0446	0.0043	5008	,	,		10468	0		0.001	False		,,,				2504	0					ENST00000295743.4																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(3)|prostate(1)	21						c.(379-381)ggc>gCGCgc		eomesodermin																																				SO:0001652	inframe_insertion	8320				CD8-positive, alpha-beta T cell differentiation involved in immune response|cell differentiation involved in embryonic placenta development|endoderm formation|mesoderm formation|mesodermal to mesenchymal transition involved in gastrulation|positive regulation of transcription, DNA-dependent	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr3:27763405_27763406insGCG	BC025363	CCDS2646.1, CCDS63585.1	3p24.1	2011-06-13	2010-06-24		ENSG00000163508	ENSG00000163508		"T-boxes"	3372	protein-coding gene	gene with protein product	"T-box brain2"	604615	"eomesodermin (Xenopus laevis) homolog"			9888994, 9434949	Standard	NM_005442		Approved	TBR2	uc003cdy.4	O95936	OTTHUMG00000130570	ENST00000295743.4:c.378_380dupCGC	3.37:g.27763412_27763414dupGCG	ENSP00000295743:p.Ala130dup					EOMES_ENST00000449599.1_In_Frame_Ins_p.127_127G>AR|EOMES_ENST00000461503.1_Intron|EOMES_ENST00000537516.1_Intron	p.127_127G>AR			O95936	EOMES_HUMAN			1	583_584	-			127			Ala-rich.		B7Z4I2|B7ZA51|G3XAI5|Q8TAZ2|Q9UPM7	In_Frame_Ins	INS	ENST00000295743.4	37	c.380_381insCGC	CCDS2646.1																																																																																				0.772	EOMES-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252995.1	NM_005442		2	4						2	4	---	---	---	---	GCG	27763406	-	GCG	27763405	7	5	187	1	0	1	1	0	0	0	0	0	5147	639	23	0	1703	0	EOMES	3	27763405	In_Frame_Ins	INS	-	TCGA-G9-7523-01A-11D-2260-08	14355905	27763405	170259025	10	8716											
SCAP	22937	broad.mit.edu	37	chr3	47455847	47455847	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcccacaggcagatggccccAtcttgtcctccactggccag	7	8	9	17	0	1	1	0	0	1	1	4	1	4	1	6	3	0	1	6	3	0	1	rs371749768		TCGA-G9-7523-01A-11D-2260-08	TCGA-G9-7523-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e100b0-9027-432d-9ab6-2690e7753289	0b92342c-e2a3-4f38-9ed1-bd7f1aac35f7	g.chr3:47455847A>C	ENST00000265565.5	-	22	3829	c.3417T>G	c.(3415-3417)gaT>gaG	p.D1139E	SCAP_ENST00000441517.2_Missense_Mutation_p.D883E|SCAP_ENST00000545718.1_Missense_Mutation_p.D746E	NM_012235.2	NP_036367.2	Q12770	SCAP_HUMAN	SREBF chaperone	1139	Interaction with SREBF2. {ECO:0000250}.				aging (GO:0007568)|cholesterol metabolic process (GO:0008203)|negative regulation of cholesterol biosynthetic process (GO:0045541)|positive regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045716)|regulation of fatty acid biosynthetic process (GO:0042304)|response to hypoxia (GO:0001666)|response to insulin (GO:0032868)|small molecule metabolic process (GO:0044281)|SREBP signaling pathway (GO:0032933)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|protein complex (GO:0043234)	unfolded protein binding (GO:0051082)			endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	26				BRCA - Breast invasive adenocarcinoma(193;0.000278)|KIRC - Kidney renal clear cell carcinoma(197;0.00592)|Kidney(197;0.00679)		AGATGGCCCCATCTTGTCCTC	0.597																																					Pancreas(149;978 1908 29304 37806 46700)	ENST00000265565.5																			0				endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	26						c.(3415-3417)gaT>gaG		SREBF chaperone							60	52	55					3																	47455847		2203	4300	6503	SO:0001583	missense	22937				cholesterol metabolic process|negative regulation of cholesterol biosynthetic process|positive regulation of low-density lipoprotein particle receptor biosynthetic process|positive regulation of transcription via sterol regulatory element binding involved in ER-nuclear sterol response pathway	endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Golgi membrane|integral to membrane	unfolded protein binding	g.chr3:47455847A>C	BC020987	CCDS2755.2	3p21.31	2013-01-10			ENSG00000114650	ENSG00000114650		"WD repeat domain containing"	30634	protein-coding gene	gene with protein product	"SREBP cleavage activating protein"	601510				8898195, 8724849, 10570913	Standard	XM_005264967		Approved	KIAA0199	uc003crh.1	Q12770	OTTHUMG00000125539	ENST00000265565.5:c.3417T>G	3.37:g.47455847A>C	ENSP00000265565:p.Asp1139Glu					SCAP_ENST00000545718.1_Missense_Mutation_p.D746E|SCAP_ENST00000441517.2_Missense_Mutation_p.D883E	p.D1139E	NM_012235.2	NP_036367.2	Q12770	SCAP_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000278)|KIRC - Kidney renal clear cell carcinoma(197;0.00592)|Kidney(197;0.00679)	22	3829	-			1139			Interaction with SREBF2 (By similarity).		Q8N2E0|Q8WUA1	Missense_Mutation	SNP	ENST00000265565.5	37	c.3417T>G	CCDS2755.2	.	.	.	.	.	.	.	.	.	.	A	22.9	4.344543	0.82022	.	.	ENSG00000114650	ENST00000339815;ENST00000360832;ENST00000265565;ENST00000441517;ENST00000545718	D;D;D	0.89196	-2.48;-2.48;-2.48	4.96	-2.03	0.07365	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40 repeat, conserved site (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.93533	0.7936	M	0.87682	2.9	0.58432	D	0.999996	D;D	0.89917	1.0;1.0	D;D	0.97110	0.996;1.0	D	0.92153	0.5730	10	0.87932	D	0	-21.2078	11.5887	0.50933	0.5091:0.0:0.4909:0.0	.	883;1139	F8W921;Q12770	.;SCAP_HUMAN	E	631;765;1139;883;746	ENSP00000265565:D1139E;ENSP00000416847:D883E;ENSP00000438956:D746E	ENSP00000265565:D1139E	D	-	3	2	SCAP	47430851	0.980000	0.34600	0.990000	0.47175	0.998000	0.95712	0.235000	0.17948	-0.425000	0.07371	0.533000	0.62120	GAT		0.597	SCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246872.2	NM_012235		6	92	0	0	0	1	0	6	92					C	47455847	A	C	47455847	3	2	187	1	0	0	0	0	1	0	0	0	13877	214	8	5	430	5	SCAP	3	47455847	Missense_Mutation	SNP	A	TCGA-G9-7523-01A-11D-2260-08	19692442	47455847	150566583	11	8717											
RBM5	10181	broad.mit.edu	37	chr3	50129541	50129541	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagggatgaccgtgatgagcGtgaatcccgaagcaggcgga	11	5	16	9	4	0	4	0	4	0	0	1	7	1	6	2	3	2	1	2	3	2	0	rs148224209		TCGA-G9-7523-01A-11D-2260-08	TCGA-G9-7523-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e100b0-9027-432d-9ab6-2690e7753289	0b92342c-e2a3-4f38-9ed1-bd7f1aac35f7	g.chr3:50129541G>A	ENST00000347869.3	+	3	258	c.83G>A	c.(82-84)cGt>cAt	p.R28H	RBM5_ENST00000469838.1_Missense_Mutation_p.R28H	NM_005778.3	NP_005769.1	P52756	RBM5_HUMAN	RNA binding motif protein 5	28					apoptotic process (GO:0006915)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of cell proliferation (GO:0008285)|positive regulation of apoptotic process (GO:0043065)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|spliceosomal complex assembly (GO:0000245)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	DNA binding (GO:0003677)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(2)|cervix(2)|endometrium(3)|large_intestine(4)|lung(6)|prostate(2)	19				BRCA - Breast invasive adenocarcinoma(193;0.000121)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		CGTGATGAGCGTGAATCCCGA	0.463																																						ENST00000347869.3																			0				breast(2)|cervix(2)|endometrium(3)|large_intestine(4)|lung(6)|prostate(2)	19						c.(82-84)cGt>cAt		RNA binding motif protein 5		G	HIS/ARG	0,4406		0,0,2203	135	126	129		83	4.8	1	3	dbSNP_134	129	1,8599	1.2+/-3.3	0,1,4299	no	missense	RBM5	NM_005778.2	29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging	28/816	50129541	1,13005	2203	4300	6503	SO:0001583	missense	10181				apoptosis|negative regulation of cell proliferation|positive regulation of apoptosis|regulation of alternative nuclear mRNA splicing, via spliceosome|spliceosome assembly	nucleoplasm|spliceosomal complex	DNA binding|mRNA binding|nucleotide binding|protein binding|zinc ion binding	g.chr3:50129541G>A	U23946	CCDS2810.1	3p21.3	2013-08-15			ENSG00000003756	ENSG00000003756		"G patch domain containing", "RNA binding motif (RRM) containing"	9902	protein-coding gene	gene with protein product		606884				10352938, 23935508	Standard	NM_005778		Approved	LUCA15, H37	uc003cyg.3	P52756	OTTHUMG00000156785	ENST00000347869.3:c.83G>A	3.37:g.50129541G>A	ENSP00000343054:p.Arg28His					RBM5_ENST00000469838.1_Missense_Mutation_p.R28H	p.R28H	NM_005778.3	NP_005769.1	P52756	RBM5_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000121)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)	3	258	+			28					B2RA45|B4DM16|B4DMF9|B4DZ63|Q93021|Q9BU14|Q9HDA6|Q9UKY8|Q9UL24	Missense_Mutation	SNP	ENST00000347869.3	37	c.83G>A	CCDS2810.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.145679	0.77888	0.0	1.16E-4	ENSG00000003756	ENST00000347869;ENST00000469838;ENST00000404526;ENST00000536082;ENST00000441305;ENST00000437500;ENST00000417905;ENST00000543047;ENST00000539538	T	0.16897	2.31	4.83	4.83	0.62350	.	0.119834	0.56097	D	0.000035	T	0.29850	0.0746	L	0.56769	1.78	0.58432	D	0.999998	P;D	0.57899	0.913;0.981	B;P	0.51701	0.273;0.677	T	0.01480	-1.1344	9	.	.	.	-8.2563	18.1078	0.89526	0.0:0.0:1.0:0.0	.	28;28	P52756;E1CJT4	RBM5_HUMAN;.	H	28;28;28;28;28;28;28;27;27	ENSP00000343054:R28H	.	R	+	2	0	RBM5	50104545	0.995000	0.38212	1.000000	0.80357	0.997000	0.91878	4.247000	0.58750	2.519000	0.84933	0.551000	0.68910	CGT		0.463	RBM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345797.3	NM_005778		3	91	0	0	0	1	0	3	91					A	50129541	G	A	50129541	3	1	187	1	0	0	0	0	1	0	0	0	13143	1145	40	1	89	1	RBM5	3	50129541	Missense_Mutation	SNP	G	TCGA-G9-7523-01A-11D-2260-08	2673694	50129541	147892889	12	8718											
CD96	10225	broad.mit.edu	37	chr3	111298010	111298010	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccaaatcttcgatgatgggcGgaagttctcttgccacatta	10	12	9	10	2	2	1	0	1	2	0	4	3	2	2	2	2	1	1	2	2	3	4	rs143049331	byFrequency	TCGA-G9-7523-01A-11D-2260-08	TCGA-G9-7523-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e100b0-9027-432d-9ab6-2690e7753289	0b92342c-e2a3-4f38-9ed1-bd7f1aac35f7	g.chr3:111298010G>A	ENST00000283285.5	+	5	859	c.728G>A	c.(727-729)cGg>cAg	p.R243Q	CD96_ENST00000438817.2_Missense_Mutation_p.R227Q|CD96_ENST00000352690.4_Missense_Mutation_p.R227Q	NM_198196.2	NP_937839.1	P40200	TACT_HUMAN	CD96 molecule	243					cell adhesion (GO:0007155)|immune response (GO:0006955)|regulation of immune response (GO:0050776)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(4)|liver(2)|lung(14)|skin(5)	35						GATGATGGGCGGAAGTTCTCT	0.448									Opitz Trigonocephaly syndrome				G|||	5	0.000998403	0	0	5008	,	,		20029	0.005		0	False		,,,				2504	0					ENST00000352690.4																			0				central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(4)|liver(2)|lung(14)|skin(5)	35						c.(679-681)cGg>cAg		CD96 molecule							113	109	110					3																	111298010		2203	4300	6503	SO:0001583	missense	0	Opitz Trigonocephaly syndrome	Familial Cancer Database	C syndrome, Trigonocephaly syndrome	cell adhesion|immune response|regulation of immune response	integral to plasma membrane		g.chr3:111298010G>A	M88282	CCDS2958.1, CCDS2959.1	3p13-q13.2	2013-01-11	2006-03-28		ENSG00000153283	ENSG00000153283		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	16892	protein-coding gene	gene with protein product		606037	"CD96 antigen"			1313846	Standard	XR_241462		Approved	TACTILE	uc003dxx.3	P40200	OTTHUMG00000159275	ENST00000283285.5:c.728G>A	3.37:g.111298010G>A	ENSP00000283285:p.Arg243Gln					CD96_ENST00000283285.5_Missense_Mutation_p.R243Q|CD96_ENST00000438817.2_Missense_Mutation_p.R227Q	p.R227Q	NM_005816.4	NP_005807.1	P40200	TACT_HUMAN			4	920	+			243			Ig-like V-type 2.		Q5JPB3	Missense_Mutation	SNP	ENST00000283285.5	37	c.680G>A	CCDS2959.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	4.512	0.094975	0.08681	.	.	ENSG00000153283	ENST00000352690;ENST00000283285;ENST00000438817	T;T;T	0.68025	-0.28;-0.3;-0.23	5.18	-1.2	0.09554	Immunoglobulin subtype (1);	0.712736	0.11972	N	0.511705	T	0.39064	0.1064	N	0.17082	0.46	0.09310	N	1	B;B;B;B	0.32753	0.113;0.18;0.024;0.383	B;B;B;B	0.24155	0.012;0.027;0.003;0.051	T	0.13710	-1.0499	10	0.30078	T	0.28	0.0223	3.6437	0.08177	0.315:0.0:0.417:0.2679	.	227;227;243;227	E9PEJ1;P40200-2;P40200;Q8WUE2	.;.;TACT_HUMAN;.	Q	227;243;227	ENSP00000342040:R227Q;ENSP00000283285:R243Q;ENSP00000389801:R227Q	ENSP00000283285:R243Q	R	+	2	0	CD96	112780700	0.000000	0.05858	0.003000	0.11579	0.000000	0.00434	-1.026000	0.03596	-0.508000	0.06540	-1.911000	0.00521	CGG		0.448	CD96-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000354312.2			3	127	0	0	0	1	0	3	127					A	111298010	G	A	111298010	3	1	187	1	0	0	0	0	1	0	0	0	3048	1116	39	2	746	2	CD96	3	111298010	Missense_Mutation	SNP	G	TCGA-G9-7523-01A-11D-2260-08	61168469	111298010	86724420	13	8719											
PLS1	5357	broad.mit.edu	37	chr3	142396940	142396940	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcaataagaaaaagctcacGccattcactatttctgtaag	16	11	5	9	1	4	1	3	0	1	1	4	1	4	1	1	0	1	2	1	0	6	5			TCGA-G9-7523-01A-11D-2260-08	TCGA-G9-7523-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e100b0-9027-432d-9ab6-2690e7753289	0b92342c-e2a3-4f38-9ed1-bd7f1aac35f7	g.chr3:142396940G>A	ENST00000337777.3	+	6	777	c.564G>A	c.(562-564)acG>acA	p.T188T	PLS1_ENST00000457734.2_Silent_p.T188T|PLS1_ENST00000497002.1_Silent_p.T188T	NM_002670.2	NP_002661.2	Q14651	PLSI_HUMAN	plastin 1	188	Actin-binding 1.|CH 1. {ECO:0000255|PROSITE- ProRule:PRU00044}.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	27						AAAAGCTCACGCCATTCACTA	0.308																																						ENST00000337777.3																			0				NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	27						c.(562-564)acG>acA		plastin 1							126	122	123					3																	142396940		2203	4299	6502	SO:0001819	synonymous_variant	5357					cytoplasm	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	g.chr3:142396940G>A	L20826	CCDS3125.1	3q23	2013-01-10	2010-02-10		ENSG00000120756	ENSG00000120756		"EF-hand domain containing"	9090	protein-coding gene	gene with protein product		602734	"plastin 1 (I isoform)"			8139549	Standard	NM_002670		Approved	I-plastin, Plastin-1	uc003euz.3	Q14651	OTTHUMG00000159292	ENST00000337777.3:c.564G>A	3.37:g.142396940G>A						PLS1_ENST00000497002.1_Silent_p.T188T|PLS1_ENST00000457734.2_Silent_p.T188T	p.T188T	NM_002670.2	NP_002661.2	Q14651	PLSI_HUMAN			6	777	+			188			Actin-binding 1.|CH 1.		A8K2Q1|D3DNG3|Q8NEG6	Silent	SNP	ENST00000337777.3	37	c.564G>A	CCDS3125.1																																																																																				0.308	PLS1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354435.1	NM_002670		4	49	0	0	0	1	0	4	49					A	142396940	G	A	142396940	2	1	187	1	0	0	0	0	0	0	0	1	12107	1074	38	1		1	PLS1	3	142396940	Silent	SNP	G	TCGA-G9-7523-01A-11D-2260-08	31098930	142396940	55625490	14	8720											
NAALADL2	254827	broad.mit.edu	37	chr3	175042115	175042115	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gcctggttacccaagtgtcgGtaagtttgttggtcatcatt	7	15	11	8	1	2	0	2	0	0	0	3	0	2	0	2	3	1	4	2	3	3	5			TCGA-G9-7523-01A-11D-2260-08	TCGA-G9-7523-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e100b0-9027-432d-9ab6-2690e7753289	0b92342c-e2a3-4f38-9ed1-bd7f1aac35f7	g.chr3:175042115G>A	ENST00000454872.1	+	5	1218		c.e5+1		NAALADL2_ENST00000473253.1_Splice_Site	NM_207015.2	NP_996898.2	Q58DX5	NADL2_HUMAN	N-acetylated alpha-linked acidic dipeptidase-like 2							integral component of membrane (GO:0016021)				central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(20)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	49	Ovarian(172;0.0102)	all_cancers(1;0.0272)|all_epithelial(1;0.0553)	OV - Ovarian serous cystadenocarcinoma(80;9.26e-28)	Colorectal(1;1.66e-10)|COAD - Colon adenocarcinoma(1;2.1e-07)|STAD - Stomach adenocarcinoma(1;0.00261)|READ - Rectum adenocarcinoma(3;0.0284)		CCAAGTGTCGGTAAGTTTGTT	0.383																																						ENST00000454872.1																			0				central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(20)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	49						c.e5+1		N-acetylated alpha-linked acidic dipeptidase-like 2							115	114	114					3																	175042115		1876	4086	5962	SO:0001630	splice_region_variant	254827				proteolysis	integral to membrane	peptidase activity	g.chr3:175042115G>A		CCDS46960.1	3q26.3	2011-08-16			ENSG00000177694	ENSG00000177694			23219	protein-coding gene	gene with protein product	"glutamate carboxypeptidase II-type non-peptidase homologue"	608806				15168106	Standard	NM_207015		Approved		uc003fir.3	Q58DX5	OTTHUMG00000157120	ENST00000454872.1:c.1090+1G>A	3.37:g.175042115G>A						NAALADL2_ENST00000473253.1_Splice_Site		NM_207015.2	NP_996898.2	Q58DX5	NADL2_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;9.26e-28)	Colorectal(1;1.66e-10)|COAD - Colon adenocarcinoma(1;2.1e-07)|STAD - Stomach adenocarcinoma(1;0.00261)|READ - Rectum adenocarcinoma(3;0.0284)	5	1218	+	Ovarian(172;0.0102)	all_cancers(1;0.0272)|all_epithelial(1;0.0553)						Q658X9|Q6H9J8|Q6H9J9|Q6PG38	Splice_Site	SNP	ENST00000454872.1	37		CCDS46960.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.275974	0.80580	.	.	ENSG00000177694	ENST00000454872	.	.	.	5.79	5.79	0.91817	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.2173	0.89890	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	NAALADL2	176524809	1.000000	0.71417	0.999000	0.59377	0.925000	0.55904	7.053000	0.76641	2.735000	0.93741	0.563000	0.77884	.		0.383	NAALADL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347390.2	NM_207015	Intron	3	65	0	0	0	1	0	3	65					A	175042115	G	A	175042115	5	1	187	1	0	0	0	0	0	0	1	0	10130	1275	44	3	1109	3	NAALADL2	3	175042115	Splice_Site	SNP	G	TCGA-G9-7523-01A-11D-2260-08	32645175	175042115	22980315	15	8721											
POU4F2	5458	broad.mit.edu	37	chr4	147561255	147561255	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ggcacgcaccaccaccaccaCcatcaccaccaccaccacca	13	1	3	24	1	1	0	1	0	0	0	1	0	1	0	10	1	0	2	10	1	0	0			TCGA-G9-7523-01A-11D-2260-08	TCGA-G9-7523-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e100b0-9027-432d-9ab6-2690e7753289	0b92342c-e2a3-4f38-9ed1-bd7f1aac35f7	g.chr4:147561255C>T	ENST00000281321.3	+	2	773	c.525C>T	c.(523-525)caC>caT	p.H175H	AC093887.1_ENST00000584185.1_RNA	NM_004575.2	NP_004566.2	Q12837	PO4F2_HUMAN	POU class 4 homeobox 2	175	Poly-His.				axon extension (GO:0048675)|axon guidance (GO:0007411)|intracellular estrogen receptor signaling pathway (GO:0030520)|MAPK cascade (GO:0000165)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuromuscular process controlling balance (GO:0050885)|neuron differentiation (GO:0030182)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|retina development in camera-type eye (GO:0060041)|retinal ganglion cell axon guidance (GO:0031290)|sensory perception of sound (GO:0007605)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	33	all_hematologic(180;0.151)					accaccaccaccatcaccacc	0.682																																						ENST00000281321.3																			0				NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	33						c.(523-525)caC>caT		POU class 4 homeobox 2							48	49	49					4																	147561255		2203	4299	6502	SO:0001819	synonymous_variant	5458				estrogen receptor signaling pathway|MAPKKK cascade|negative regulation of transcription from RNA polymerase II promoter	nuclear speck	RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription	g.chr4:147561255C>T	U06233	CCDS34074.1	4q31.22	2011-06-20	2007-07-13					"Homeoboxes / POU class"	9219	protein-coding gene	gene with protein product		113725	"POU domain, class 4, transcription factor 2", "POU domain class 4, transcription factor 2"	BRN3B		8332509	Standard	NM_004575		Approved	Brn-3b	uc003ikv.3	Q12837		ENST00000281321.3:c.525C>T	4.37:g.147561255C>T							p.H175H	NM_004575.2	NP_004566.2	Q12837	PO4F2_HUMAN			2	773	+	all_hematologic(180;0.151)		175			Poly-His.		B1PJR6|B2RC84|Q13883|Q14987	Silent	SNP	ENST00000281321.3	37	c.525C>T	CCDS34074.1																																																																																				0.682	POU4F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367020.1	NM_004575		3	34	0	0	0	1	0	3	34					T	147561255	C	T	147561255	2	4	187	1	0	0	0	0	0	0	0	1	12279	506	18	3		3	POU4F2	4	147561255	Silent	SNP	C	TCGA-G9-7523-01A-11D-2260-08		147561255	43593021	16	8722											
TLL1	7092	broad.mit.edu	37	chr4	166996111	166996111	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gagctacatgtgtcaatgccGtaatggatttgtgctacatg	10	13	11	7	1	1	0	1	0	0	0	1	2	1	1	1	1	5	3	1	1	4	4	rs114965343		TCGA-G9-7523-01A-11D-2260-08	TCGA-G9-7523-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e100b0-9027-432d-9ab6-2690e7753289	0b92342c-e2a3-4f38-9ed1-bd7f1aac35f7	g.chr4:166996111G>A	ENST00000061240.2	+	17	2917	c.2270G>A	c.(2269-2271)cGt>cAt	p.R757H	TLL1_ENST00000507499.1_Missense_Mutation_p.R780H	NM_012464.4	NP_036596.3	O43897	TLL1_HUMAN	tolloid-like 1	757	EGF-like 2; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				cell differentiation (GO:0030154)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)		GBM - Glioblastoma multiforme(119;0.103)		TGTCAATGCCGTAATGGATTT	0.403													G|||	1	0.000199681	0	0	5008	,	,		23789	0.001		0	False		,,,				2504	0					ENST00000061240.2																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	77						c.(2269-2271)cGt>cAt		tolloid-like 1		G	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	286	234	252		2270	4.9	1	4	dbSNP_132	252	0,8600		0,0,4300	no	missense	TLL1	NM_012464.4	29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	757/1014	166996111	1,13005	2203	4300	6503	SO:0001583	missense	7092				cell differentiation|proteolysis|skeletal system development	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding	g.chr4:166996111G>A	AF282732	CCDS3811.1, CCDS56342.1	4q32-q33	2008-07-29			ENSG00000038295	ENSG00000038295			11843	protein-coding gene	gene with protein product		606742				10516436	Standard	NM_012464		Approved		uc003irh.2	O43897	OTTHUMG00000161112	ENST00000061240.2:c.2270G>A	4.37:g.166996111G>A	ENSP00000061240:p.Arg757His					TLL1_ENST00000507499.1_Missense_Mutation_p.R780H	p.R757H	NM_012464.4	NP_036596.3	O43897	TLL1_HUMAN		GBM - Glioblastoma multiforme(119;0.103)	17	2917	+	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)	757			EGF-like 2; calcium-binding (Potential).		B2RMU2|Q96AN3|Q9NQS4	Missense_Mutation	SNP	ENST00000061240.2	37	c.2270G>A	CCDS3811.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	16.07	3.019551	0.54576	2.27E-4	0.0	ENSG00000038295	ENST00000061240;ENST00000507499	D;D	0.96396	-4.0;-4.0	5.72	4.88	0.63580	EGF-like region, conserved site (1);EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	U	0.000000	D	0.96408	0.8828	L	0.33710	1.025	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.994	D	0.95631	0.8689	10	0.31617	T	0.26	.	15.0088	0.71533	0.0683:0.0:0.9317:0.0	.	780;757	E9PD25;O43897	.;TLL1_HUMAN	H	757;780	ENSP00000061240:R757H;ENSP00000426082:R780H	ENSP00000061240:R757H	R	+	2	0	TLL1	167215561	1.000000	0.71417	0.965000	0.40720	0.005000	0.04900	9.714000	0.98744	1.556000	0.49512	0.650000	0.86243	CGT		0.403	TLL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363821.1			4	256	0	0	0	1	0	4	256					A	166996111	G	A	166996111	3	1	187	1	0	0	0	0	1	0	0	0	15942	1145	40	1	2336	1	TLL1	4	166996111	Missense_Mutation	SNP	G	TCGA-G9-7523-01A-11D-2260-08	19434856	166996111	24158165	17	8723											
C6orf27	80737	broad.mit.edu	37	chr6	31743820	31743820	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tggctgccaccacggtctccCgcagagcccctaccaggcgc	6	5	11	19	3	1	1	0	0	1	1	2	1	1	1	6	3	3	2	6	3	1	1	rs370121129		TCGA-G9-7523-01A-11D-2260-08	TCGA-G9-7523-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e100b0-9027-432d-9ab6-2690e7753289	0b92342c-e2a3-4f38-9ed1-bd7f1aac35f7	g.chr6:31743820C>T	ENST00000375688.4	-	3	634	c.434G>A	c.(433-435)cGg>cAg	p.R145Q	VWA7_ENST00000467576.1_Intron|VWA7_ENST00000447450.1_Missense_Mutation_p.R145Q|Y_RNA_ENST00000364685.1_RNA|VWA7_ENST00000375686.3_Missense_Mutation_p.R145Q			Q9Y334	VWA7_HUMAN	von Willebrand factor A domain containing 7	145						extracellular region (GO:0005576)											CACGGTCTCCCGCAGAGCCCC	0.662																																						ENST00000375686.3																			0											c.(433-435)cGg>cAg		von Willebrand factor A domain containing 7		C	GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	60	66	64		434	2.7	0.9	6		64	0,8600		0,0,4300	no	missense	C6orf27	NM_025258.2	43	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	possibly-damaging	145/892	31743820	1,13005	2203	4300	6503	SO:0001583	missense	80737					extracellular region		g.chr6:31743820C>T		CCDS4721.2	6p21	2011-12-13	2011-12-13	2011-12-13	ENSG00000204396	ENSG00000204396			13939	protein-coding gene	gene with protein product		609693	"chromosome 6 open reading frame 27"	C6orf27			Standard	NM_025258		Approved	G7c, NG37	uc011dog.2	Q9Y334	OTTHUMG00000031132	ENST00000375688.4:c.434G>A	6.37:g.31743820C>T	ENSP00000364840:p.Arg145Gln					VWA7_ENST00000375688.4_Missense_Mutation_p.R145Q|VWA7_ENST00000447450.1_Missense_Mutation_p.R145Q|VWA7_ENST00000467576.1_Intron	p.R145Q	NM_025258.2	NP_079534.2	Q9Y334	G7C_HUMAN			3	671	-			145					A2BEX8|A6NHR6|B0V041|Q5SSR5|Q96QC8|Q9UMP9	Missense_Mutation	SNP	ENST00000375688.4	37	c.434G>A	CCDS4721.2	.	.	.	.	.	.	.	.	.	.	C	10.73	1.431752	0.25813	2.27E-4	0.0	ENSG00000204396	ENST00000375688;ENST00000375686;ENST00000447450	T;T;T	0.14516	2.5;2.5;2.5	5.47	2.74	0.32292	.	0.463335	0.20241	N	0.096289	T	0.04048	0.0113	L	0.50333	1.59	0.09310	N	1	B	0.21905	0.062	B	0.13407	0.009	T	0.35301	-0.9794	10	0.36615	T	0.2	-5.4858	6.6648	0.23035	0.0:0.6463:0.0:0.3537	.	145	Q9Y334	G7C_HUMAN	Q	145	ENSP00000364840:R145Q;ENSP00000364838:R145Q;ENSP00000390554:R145Q	ENSP00000364838:R145Q	R	-	2	0	C6orf27	31851799	0.000000	0.05858	0.852000	0.33557	0.527000	0.34593	-0.352000	0.07701	0.682000	0.31407	0.650000	0.86243	CGG		0.662	VWA7-001	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076233.2	NM_025258		4	149	0	0	0	1	0	4	149					T	31743820	C	T	31743820	3	4	187	1	0	0	0	0	1	0	0	0	2362	652	23	2	2300	2	C6orf27	6	31743820	Missense_Mutation	SNP	C	TCGA-G9-7523-01A-11D-2260-08		31743820	139371247	18	8724											
IBTK	25998	broad.mit.edu	37	chr6	82924057	82924057	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gatttaggtttgctcttctgCctctcactaactgtttgagc	6	17	8	10	0	3	1	1	1	3	0	4	2	3	1	1	1	4	3	1	1	2	6			TCGA-G9-7523-01A-11D-2260-08	TCGA-G9-7523-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e100b0-9027-432d-9ab6-2690e7753289	0b92342c-e2a3-4f38-9ed1-bd7f1aac35f7	g.chr6:82924057C>A	ENST00000306270.7	-	12	2640	c.2091G>T	c.(2089-2091)agG>agT	p.R697S	IBTK_ENST00000510291.1_Missense_Mutation_p.R697S|IBTK_ENST00000503631.1_Intron	NM_015525.2	NP_056340.2	Q9P2D0	IBTK_HUMAN	inhibitor of Bruton agammaglobulinemia tyrosine kinase	697					negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein tyrosine kinase activity (GO:0061099)|release of sequestered calcium ion into cytosol (GO:0051209)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)|protein tyrosine kinase inhibitor activity (GO:0030292)			central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(10)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	54		all_cancers(76;3.38e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.0037)		BRCA - Breast invasive adenocarcinoma(397;0.0901)		TGCTCTTCTGCCTCTCACTAA	0.328																																						ENST00000306270.7																			0				central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(10)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	54						c.(2089-2091)agG>agT		inhibitor of Bruton agammaglobulinemia tyrosine kinase							119	126	123					6																	82924057		2203	4300	6503	SO:0001583	missense	25998				negative regulation of protein phosphorylation|release of sequestered calcium ion into cytosol	cytoplasm|membrane|nucleus	protein kinase binding|protein tyrosine kinase inhibitor activity	g.chr6:82924057C>A	AF235049	CCDS34490.1, CCDS75486.1	6q14.3	2013-01-10	2003-10-06	2003-10-08	ENSG00000005700	ENSG00000005700		"BTB/POZ domain containing", "Ankyrin repeat domain containing"	17853	protein-coding gene	gene with protein product		606457	"Bruton agammaglobulinemia tyrosine kinase inhibitor"	BTKI		11577348	Standard	XM_006715453		Approved	DKFZP564B116, BTBD26	uc003pjl.1	Q9P2D0	OTTHUMG00000015102	ENST00000306270.7:c.2091G>T	6.37:g.82924057C>A	ENSP00000305721:p.Arg697Ser					IBTK_ENST00000510291.1_Missense_Mutation_p.R697S|IBTK_ENST00000503631.1_Intron	p.R697S	NM_015525.2	NP_056340.2	Q9P2D0	IBTK_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.0901)	12	2640	-		all_cancers(76;3.38e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.0037)	697					Q2QKU2|Q2QKU3|Q2QKU4|Q5TFD7|Q5TFD9|Q8IUQ9|Q8IUY7|Q8TAI4|Q9HBI8|Q9Y3T8	Missense_Mutation	SNP	ENST00000306270.7	37	c.2091G>T	CCDS34490.1	.	.	.	.	.	.	.	.	.	.	C	11.99	1.804269	0.31869	.	.	ENSG00000005700	ENST00000306270;ENST00000510291	T;T	0.21734	1.99;1.99	5.47	-0.248	0.13015	BTB/POZ-like (1);	0.327050	0.36972	N	0.002301	T	0.06234	0.0161	L	0.56769	1.78	0.39317	D	0.96518	B;B;B	0.25351	0.124;0.009;0.005	B;B;B	0.24006	0.05;0.005;0.002	T	0.17623	-1.0363	10	0.21540	T	0.41	-0.5026	4.5277	0.11990	0.1504:0.3909:0.0:0.4587	.	697;697;697	E7EPI0;Q9P2D0-2;Q9P2D0	.;.;IBTK_HUMAN	S	697	ENSP00000305721:R697S;ENSP00000426405:R697S	ENSP00000305721:R697S	R	-	3	2	IBTK	82980776	0.585000	0.26774	0.993000	0.49108	0.599000	0.36880	0.529000	0.23019	0.023000	0.15187	0.655000	0.94253	AGG		0.328	IBTK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041337.2	NM_015525		12	73	1	0	0.000151284	1	0.000159689	12	73					A	82924057	C	A	82924057	3	1	187	1	0	0	0	0	1	0	0	0	7476	738	26	5	2042	5	IBTK	6	82924057	Missense_Mutation	SNP	C	TCGA-G9-7523-01A-11D-2260-08	51180237	82924057	88191010	19	8725											
LAMA2	3908	broad.mit.edu	37	chr6	129691092	129691092	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tattcagctggcagagggcaAtctgaatacactcgtgaccg	11	9	11	10	2	2	3	1	2	1	1	3	3	2	3	1	2	2	3	1	2	4	3			TCGA-G9-7523-01A-11D-2260-08	TCGA-G9-7523-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e100b0-9027-432d-9ab6-2690e7753289	0b92342c-e2a3-4f38-9ed1-bd7f1aac35f7	g.chr6:129691092A>T	ENST00000421865.2	+	34	4965	c.4916A>T	c.(4915-4917)aAt>aTt	p.N1639I		NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	1639	Domain II and I.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|myelination in peripheral nervous system (GO:0022011)|positive regulation of synaptic transmission, cholinergic (GO:0032224)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|sarcolemma (GO:0042383)	structural molecule activity (GO:0005198)			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		GCAGAGGGCAATCTGAATACA	0.448																																						ENST00000421865.2																			0				NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194						c.(4915-4917)aAt>aTt		laminin, alpha 2							82	84	83					6																	129691092		2203	4300	6503	SO:0001583	missense	3908				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	g.chr6:129691092A>T	Z26653	CCDS5138.1	6q22-q23	2014-09-17	2008-08-01		ENSG00000196569	ENSG00000196569		"Laminins"	6482	protein-coding gene	gene with protein product	"merosin", "congenital muscular dystrophy"	156225		LAMM		2185464, 8294519	Standard	NM_000426		Approved		uc003qbn.3	P24043	OTTHUMG00000015545	ENST00000421865.2:c.4916A>T	6.37:g.129691092A>T	ENSP00000400365:p.Asn1639Ile						p.N1639I	NM_000426.3|NM_001079823.1	NP_000417.2|NP_001073291.1	P24043	LAMA2_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)	34	4965	+			1639			Domain II and I.		Q14736|Q5VUM2|Q93022	Missense_Mutation	SNP	ENST00000421865.2	37	c.4916A>T	CCDS5138.1	.	.	.	.	.	.	.	.	.	.	A	23.2	4.391089	0.82902	.	.	ENSG00000196569	ENST00000358023;ENST00000354729;ENST00000421865	T	0.10288	2.89	5.98	4.81	0.61882	Laminin I (1);	0.202481	0.50627	D	0.000111	T	0.10252	0.0251	L	0.32530	0.975	0.45366	D	0.998355	D;D	0.56746	0.977;0.977	P;P	0.61722	0.893;0.882	T	0.07009	-1.0795	10	0.42905	T	0.14	.	11.6213	0.51119	0.93:0.0:0.07:0.0	.	1639;1639	A6NF00;P24043	.;LAMA2_HUMAN	I	1639	ENSP00000400365:N1639I	ENSP00000346769:N1639I	N	+	2	0	LAMA2	129732785	1.000000	0.71417	0.750000	0.31169	0.871000	0.50021	4.357000	0.59436	1.080000	0.41073	0.533000	0.62120	AAT		0.448	LAMA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042180.1			3	107	0	0	0	1	0	3	107					T	129691092	A	T	129691092	3	4	187	1	0	0	0	0	1	0	0	0	8606	101	4	5	5050	5	LAMA2	6	129691092	Missense_Mutation	SNP	A	TCGA-G9-7523-01A-11D-2260-08	46767035	129691092	41423975	20	8726											
SAMD3	154075	broad.mit.edu	37	chr6	130467207	130467207	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	attttttcttgcaatacaatAttgattggattgtccaccac	11	17	5	8	0	1	1	0	1	1	0	2	2	2	2	2	1	2	1	2	1	4	9			TCGA-G9-7523-01A-11D-2260-08	TCGA-G9-7523-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e100b0-9027-432d-9ab6-2690e7753289	0b92342c-e2a3-4f38-9ed1-bd7f1aac35f7	g.chr6:130467207A>G	ENST00000368134.2	-	12	1751	c.1143T>C	c.(1141-1143)aaT>aaC	p.N381N	SAMD3_ENST00000437477.2_Silent_p.N381N|SAMD3_ENST00000439090.2_Silent_p.N381N|RP11-73O6.3_ENST00000609978.1_RNA|SAMD3_ENST00000457563.2_Silent_p.N405N	NM_001258275.1	NP_001245204.1	Q8N6K7	SAMD3_HUMAN	sterile alpha motif domain containing 3	381										breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(3)|lung(15)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	29				GBM - Glioblastoma multiforme(226;0.00594)|OV - Ovarian serous cystadenocarcinoma(155;0.128)		GCAATACAATATTGATTGGAT	0.303																																						ENST00000368134.2																			0				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(3)|lung(15)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	29						c.(1141-1143)aaT>aaC		sterile alpha motif domain containing 3							106	106	106					6																	130467207		2202	4294	6496	SO:0001819	synonymous_variant	154075							g.chr6:130467207A>G	AK091351	CCDS34539.1, CCDS64525.1	6q23.1	2013-01-10			ENSG00000164483	ENSG00000164483		"Sterile alpha motif (SAM) domain containing"	21574	protein-coding gene	gene with protein product							Standard	NM_001017373		Approved	bA73O6.2, FLJ34032	uc031spp.1	Q8N6K7	OTTHUMG00000015556	ENST00000368134.2:c.1143T>C	6.37:g.130467207A>G						SAMD3_ENST00000439090.2_Silent_p.N381N|SAMD3_ENST00000437477.2_Silent_p.N381N|SAMD3_ENST00000457563.2_Silent_p.N405N	p.N381N	NM_001258275.1	NP_001245204.1	Q8N6K7	SAMD3_HUMAN		GBM - Glioblastoma multiforme(226;0.00594)|OV - Ovarian serous cystadenocarcinoma(155;0.128)	12	1751	-			381					B4DY20|E1P576|J3KQK4|Q4VXD8|Q8NAY1|Q8NB96	Silent	SNP	ENST00000368134.2	37	c.1143T>C	CCDS34539.1	.	.	.	.	.	.	.	.	.	.	A	4.296	0.054091	0.08291	.	.	ENSG00000164483	ENST00000463253	.	.	.	5.64	-0.846	0.10734	.	.	.	.	.	T	0.17534	0.0421	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.32402	-0.9908	4	.	.	.	.	10.954	0.47347	0.5753:0.0:0.4247:0.0	.	.	.	.	T	50	.	.	I	-	2	0	SAMD3	130508900	0.000000	0.05858	0.011000	0.14972	0.756000	0.42949	0.072000	0.14617	-0.293000	0.08986	0.528000	0.53228	ATA		0.303	SAMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042197.3	NM_152552		19	60	0	0	0	1	0	19	60					G	130467207	A	G	130467207	2	3	187	1	0	0	0	0	0	0	0	1	13820	446	16	4		4	SAMD3	6	130467207	Silent	SNP	A	TCGA-G9-7523-01A-11D-2260-08	776115	130467207	40647860	21	8727											
RAMP3	10268	broad.mit.edu	37	chr7	45222942	45222942	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atcccgctgatcgttataccCgtcgttctgactgtcgccat	6	13	8	14	5	1	2	0	2	1	0	5	2	2	2	3	0	1	3	3	0	2	3			TCGA-G9-7523-01A-11D-2260-08	TCGA-G9-7523-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e100b0-9027-432d-9ab6-2690e7753289	0b92342c-e2a3-4f38-9ed1-bd7f1aac35f7	g.chr7:45222942C>T	ENST00000242249.4	+	3	416	c.378C>T	c.(376-378)ccC>ccT	p.P126P	RAMP3_ENST00000481345.1_Silent_p.P126P|RAMP3_ENST00000496212.1_Silent_p.P126P	NM_005856.2	NP_005847.1	O60896	RAMP3_HUMAN	receptor (G protein-coupled) activity modifying protein 3	126					calcium ion transport (GO:0006816)|cellular response to estradiol stimulus (GO:0071392)|G-protein coupled receptor signaling pathway involved in heart process (GO:0086103)|intracellular protein transport (GO:0006886)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of receptor recycling (GO:0001921)|protein localization to plasma membrane (GO:0072659)|protein transport (GO:0015031)|receptor internalization (GO:0031623)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	coreceptor activity (GO:0015026)|protein transporter activity (GO:0008565)|receptor activity (GO:0004872)			breast(1)|endometrium(1)|large_intestine(4)|lung(4)|stomach(1)	11					Pramlintide(DB01278)	TCGTTATACCCGTCGTTCTGA	0.617																																						ENST00000242249.4																			0				breast(1)|endometrium(1)|large_intestine(4)|lung(4)|stomach(1)	11						c.(376-378)ccC>ccT		receptor (G protein-coupled) activity modifying protein 3	Pramlintide(DB01278)						131	124	126					7																	45222942		2203	4300	6503	SO:0001819	synonymous_variant	10268				intracellular protein transport|receptor-mediated endocytosis|regulation of G-protein coupled receptor protein signaling pathway	integral to plasma membrane|lysosome	protein transporter activity	g.chr7:45222942C>T	AJ001016	CCDS5503.1	7p13-p12	2006-11-21	2006-11-21		ENSG00000122679	ENSG00000122679		"Receptor (G protein-coupled) activity modifying proteins"	9845	protein-coding gene	gene with protein product		605155	"receptor activity modifying protein 3", "receptor (calcitonin) activity modifying protein 3"				Standard	NM_005856		Approved		uc003tnb.3	O60896	OTTHUMG00000023729	ENST00000242249.4:c.378C>T	7.37:g.45222942C>T						RAMP3_ENST00000496212.1_Silent_p.P126P|RAMP3_ENST00000481345.1_Silent_p.P126P	p.P126P	NM_005856.2	NP_005847.1	O60896	RAMP3_HUMAN			3	416	+			126					Q7Z2Y1	Silent	SNP	ENST00000242249.4	37	c.378C>T	CCDS5503.1																																																																																				0.617	RAMP3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000251343.1	NM_005856		69	298	0	0	0	1	0	69	298					T	45222942	C	T	45222942	2	4	187	1	0	0	0	0	0	0	0	1	13023	639	23	2		2	RAMP3	7	45222942	Silent	SNP	C	TCGA-G9-7523-01A-11D-2260-08		45222942	113915721	22	8728											
COPS6	10980	broad.mit.edu	37	chr7	99686916	99686916	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttccctccacccttagtagTccccagcgtgatggcctgcg	5	11	9	16	2	0	1	0	1	0	0	3	1	3	1	6	1	2	1	6	1	2	3			TCGA-G9-7523-01A-11D-2260-08	TCGA-G9-7523-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e100b0-9027-432d-9ab6-2690e7753289	0b92342c-e2a3-4f38-9ed1-bd7f1aac35f7	g.chr7:99686916T>G	ENST00000303904.3	+	2	117	c.80T>G	c.(79-81)gTc>gGc	p.V27G	COPS6_ENST00000418625.1_Splice_Site_p.V26G	NM_006833.4	NP_006824.2	Q7L5N1	CSN6_HUMAN	COP9 signalosome subunit 6	27					cullin deneddylation (GO:0010388)|viral process (GO:0016032)	COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)				breast(1)|endometrium(3)|large_intestine(4)|lung(2)|prostate(1)|stomach(1)	12	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		STAD - Stomach adenocarcinoma(171;0.129)			CCCTTAGTAGTCCCCAGCGTG	0.622																																						ENST00000303904.3																			0				breast(1)|endometrium(3)|large_intestine(4)|lung(2)|prostate(1)|stomach(1)	12						c.(79-81)gTc>gGc		COP9 signalosome subunit 6							116	110	112					7																	99686916		2203	4300	6503	SO:0001583	missense	10980				cullin deneddylation|interspecies interaction between organisms	cytoplasm|signalosome	protein binding	g.chr7:99686916T>G	BC002520	CCDS5682.1	7q22.1	2013-03-14	2013-03-14		ENSG00000168090	ENSG00000168090			21749	protein-coding gene	gene with protein product	"COP9 subunit 6 (MOV34 homolog, 34 kD)"	614729	"COP9 constitutive photomorphogenic homolog subunit 6 (Arabidopsis)"			12477932	Standard	NM_006833		Approved	MOV34-34KD, CSN6	uc003usu.3	Q7L5N1	OTTHUMG00000154632	ENST00000303904.3:c.80T>G	7.37:g.99686916T>G	ENSP00000304102:p.Val27Gly					COPS6_ENST00000418625.1_Splice_Site_p.V26_splice	p.V27G	NM_006833.4	NP_006824.2	Q7L5N1	CSN6_HUMAN	STAD - Stomach adenocarcinoma(171;0.129)		2	117	+	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		27					A4D2A3|O15387	Missense_Mutation	SNP	ENST00000303904.3	37	c.80T>G	CCDS5682.1	.	.	.	.	.	.	.	.	.	.	T	8.856	0.945855	0.18356	.	.	ENSG00000168090	ENST00000303904;ENST00000418625	T;T	0.43688	0.96;0.94	5.31	5.31	0.75309	.	0.472322	0.22275	N	0.062218	T	0.23727	0.0574	N	0.08118	0	0.34578	D	0.714157	B;B	0.06786	0.001;0.001	B;B	0.04013	0.001;0.0	T	0.26121	-1.0112	10	0.22109	T	0.4	-4.2775	13.2674	0.60141	0.0:0.0:0.0:1.0	.	27;27	B4DHR8;Q7L5N1	.;CSN6_HUMAN	G	27;26	ENSP00000304102:V27G;ENSP00000400617:V26G	ENSP00000304102:V27G	V	+	2	0	COPS6	99524852	0.139000	0.22563	0.924000	0.36721	0.391000	0.30476	1.477000	0.35431	2.243000	0.73865	0.533000	0.62120	GTC		0.622	COPS6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000336412.3	NM_006833		5	236	0	0	0	1	0	5	236					G	99686916	T	G	99686916	3	3	187	1	0	0	0	0	1	0	0	0	3737	1667	58	5	86	5	COPS6	7	99686916	Missense_Mutation	SNP	T	TCGA-G9-7523-01A-11D-2260-08	54463974	99686916	59451747	23	8729											
COPS6	10980	broad.mit.edu	37	chr7	99688238	99688238	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tgtgagatcatcgagagcccCctctttctgaagttgaaccc	9	11	9	12	1	3	4	1	3	2	2	4	6	3	4	3	0	2	1	3	0	2	2	rs11550651		TCGA-G9-7523-01A-11D-2260-08	TCGA-G9-7523-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e100b0-9027-432d-9ab6-2690e7753289	0b92342c-e2a3-4f38-9ed1-bd7f1aac35f7	g.chr7:99688238C>T	ENST00000303904.3	+	5	484	c.447C>T	c.(445-447)ccC>ccT	p.P149P	MIR25_ENST00000384816.1_RNA|COPS6_ENST00000418625.1_Silent_p.P148P	NM_006833.4	NP_006824.2	Q7L5N1	CSN6_HUMAN	COP9 signalosome subunit 6	149					cullin deneddylation (GO:0010388)|viral process (GO:0016032)	COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)				breast(1)|endometrium(3)|large_intestine(4)|lung(2)|prostate(1)|stomach(1)	12	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		STAD - Stomach adenocarcinoma(171;0.129)			TCGAGAGCCCCCTCTTTCTGA	0.498																																						ENST00000303904.3																			0				breast(1)|endometrium(3)|large_intestine(4)|lung(2)|prostate(1)|stomach(1)	12						c.(445-447)ccC>ccT		COP9 signalosome subunit 6							141	130	134					7																	99688238		2203	4300	6503	SO:0001819	synonymous_variant	10980				cullin deneddylation|interspecies interaction between organisms	cytoplasm|signalosome	protein binding	g.chr7:99688238C>T	BC002520	CCDS5682.1	7q22.1	2013-03-14	2013-03-14		ENSG00000168090	ENSG00000168090			21749	protein-coding gene	gene with protein product	"COP9 subunit 6 (MOV34 homolog, 34 kD)"	614729	"COP9 constitutive photomorphogenic homolog subunit 6 (Arabidopsis)"			12477932	Standard	NM_006833		Approved	MOV34-34KD, CSN6	uc003usu.3	Q7L5N1	OTTHUMG00000154632	ENST00000303904.3:c.447C>T	7.37:g.99688238C>T						COPS6_ENST00000418625.1_Silent_p.P148P	p.P149P	NM_006833.4	NP_006824.2	Q7L5N1	CSN6_HUMAN	STAD - Stomach adenocarcinoma(171;0.129)		5	484	+	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		149					A4D2A3|O15387	Silent	SNP	ENST00000303904.3	37	c.447C>T	CCDS5682.1																																																																																				0.498	COPS6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000336412.3	NM_006833		4	127	0	0	0	1	0	4	127					T	99688238	C	T	99688238	2	4	187	1	0	0	0	0	0	0	0	1	3737	610	22	3		3	COPS6	7	99688238	Silent	SNP	C	TCGA-G9-7523-01A-11D-2260-08	1322	99688238	59450425	24	8730											
AHCYL2	23382	broad.mit.edu	37	chr7	129053510	129053510	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cgtttgtaacatgggacattCcaacacagagattgacgtgg	12	10	11	8	2	0	2	0	1	0	1	1	4	1	3	1	2	2	2	1	2	2	4			TCGA-G9-7523-01A-11D-2260-08	TCGA-G9-7523-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e100b0-9027-432d-9ab6-2690e7753289	0b92342c-e2a3-4f38-9ed1-bd7f1aac35f7	g.chr7:129053510C>A	ENST00000325006.3	+	12	1496	c.1442C>A	c.(1441-1443)tCc>tAc	p.S481Y	AHCYL2_ENST00000446212.1_Missense_Mutation_p.S379Y|AHCYL2_ENST00000446544.2_Missense_Mutation_p.S480Y|AHCYL2_ENST00000531335.2_Missense_Mutation_p.S400Y|AHCYL2_ENST00000490911.1_Missense_Mutation_p.S378Y|AHCYL2_ENST00000474594.1_Missense_Mutation_p.S378Y	NM_001130720.2|NM_015328.3	NP_001124192.1|NP_056143.1	Q96HN2	SAHH3_HUMAN	adenosylhomocysteinase-like 2	481					one-carbon metabolic process (GO:0006730)		adenosylhomocysteinase activity (GO:0004013)			breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	22						ATGGGACATTCCAACACAGAG	0.433																																					Pancreas(160;1736 1964 29875 40941 45605)	ENST00000325006.3																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	22						c.(1441-1443)tCc>tAc		adenosylhomocysteinase-like 2							165	138	147					7																	129053510		2203	4300	6503	SO:0001583	missense	23382				one-carbon metabolic process		adenosylhomocysteinase activity	g.chr7:129053510C>A	AB020635	CCDS5812.1, CCDS47706.1, CCDS47707.1, CCDS47708.1, CCDS47707.2	7q32.1	2009-06-12	2009-06-12		ENSG00000158467	ENSG00000158467			22204	protein-coding gene	gene with protein product			"S-adenosylhomocysteine hydrolase-like 2"				Standard	NM_001130720		Approved	KIAA0828	uc011kov.2	Q96HN2	OTTHUMG00000157677	ENST00000325006.3:c.1442C>A	7.37:g.129053510C>A	ENSP00000315931:p.Ser481Tyr					AHCYL2_ENST00000490911.1_Missense_Mutation_p.S378Y|AHCYL2_ENST00000531335.2_Missense_Mutation_p.S400Y|AHCYL2_ENST00000446544.2_Missense_Mutation_p.S480Y|AHCYL2_ENST00000446212.1_Missense_Mutation_p.S379Y|AHCYL2_ENST00000474594.1_Missense_Mutation_p.S378Y	p.S481Y	NM_001130720.2|NM_015328.3	NP_001124192.1|NP_056143.1	Q96HN2	SAHH3_HUMAN			12	1496	+			481					B4DIZ5|D9N155|O94917	Missense_Mutation	SNP	ENST00000325006.3	37	c.1442C>A	CCDS5812.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.19|18.19	3.568144|3.568144	0.65651|0.65651	.|.	.|.	ENSG00000158467|ENSG00000158467	ENST00000466924|ENST00000325006;ENST00000446544;ENST00000531335;ENST00000474594;ENST00000446212;ENST00000490911	.|T;T;T;T;T;T	.|0.78003	.|-1.14;-1.13;-1.11;-1.1;-1.11;-1.1	5.7|5.7	5.7|5.7	0.88788|0.88788	.|S-adenosyl-L-homocysteine hydrolase, NAD binding (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.75895|0.75895	0.3912|0.3912	L|L	0.55481|0.55481	1.735|1.735	0.80722|0.80722	D|D	1|1	.|B;B;B;B;B	.|0.33345	.|0.173;0.173;0.409;0.173;0.356	.|B;B;B;B;B	.|0.35312	.|0.093;0.093;0.2;0.093;0.127	T|T	0.72609|0.72609	-0.4241|-0.4241	5|10	.|0.30078	.|T	.|0.28	-14.061|-14.061	18.3985|18.3985	0.90507|0.90507	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|378;379;481;378;480	.|B4DIZ5;D7UEQ7;Q96HN2;D9N155;Q96HN2-2	.|.;.;SAHH3_HUMAN;.;.	T|Y	388|481;480;400;378;379;378	.|ENSP00000315931:S481Y;ENSP00000413639:S480Y;ENSP00000431787:S400Y;ENSP00000420459:S378Y;ENSP00000405267:S379Y;ENSP00000420801:S378Y	.|ENSP00000315931:S481Y	P|S	+|+	1|2	0|0	AHCYL2|AHCYL2	128840746|128840746	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	7.488000|7.488000	0.81441|0.81441	2.682000|2.682000	0.91365|0.91365	0.650000|0.650000	0.86243|0.86243	CCA|TCC		0.433	AHCYL2-012	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000354065.1			19	109	1	0	5.35047e-06	1	5.80908e-06	19	109					A	129053510	C	A	129053510	3	1	187	1	0	0	0	0	1	0	0	0	411	855	30	5	1610	5	AHCYL2	7	129053510	Missense_Mutation	SNP	C	TCGA-G9-7523-01A-11D-2260-08	29365272	129053510	30085153	25	8731											
XKR6	286046	broad.mit.edu	37	chr8	10755515	10755515	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gaggagtggtccgtctcgatAtcgaatgcctactgcggtgg	7	10	15	9	4	1	0	0	0	1	0	4	4	2	1	2	4	3	0	2	4	3	2			TCGA-G9-7523-01A-11D-2260-08	TCGA-G9-7523-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e100b0-9027-432d-9ab6-2690e7753289	0b92342c-e2a3-4f38-9ed1-bd7f1aac35f7	g.chr8:10755515A>C	ENST00000416569.2	-	3	1899	c.1873T>G	c.(1873-1875)Tat>Gat	p.Y625D	XKR6_ENST00000304437.2_Missense_Mutation_p.Y346D	NM_173683.3	NP_775954.2	Q5GH73	XKR6_HUMAN	XK, Kell blood group complex subunit-related family, member 6	625						integral component of membrane (GO:0016021)				breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(8)|ovary(2)|prostate(1)|skin(3)	31				Lung(29;0.0407)|COAD - Colon adenocarcinoma(149;0.0555)		CCGTCTCGATATCGAATGCCT	0.468																																						ENST00000416569.2																			0				breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(8)|ovary(2)|prostate(1)|skin(3)	31						c.(1873-1875)Tat>Gat		XK, Kell blood group complex subunit-related family, member 6							125	116	119					8																	10755515		2203	4300	6503	SO:0001583	missense	286046					integral to membrane		g.chr8:10755515A>C	BC024146	CCDS5978.2	8p23.1	2009-05-27	2006-01-12	2005-07-28	ENSG00000171044	ENSG00000171044			27806	protein-coding gene	gene with protein product			"chromosome 8 open reading frame 7", "chromosome 8 open reading frame 21", "X Kell blood group precursor-related family, member 6", "chromosome 8 open reading frame 5"	C8orf7, C8orf21, C8orf5			Standard	NM_173683		Approved		uc003wtk.1	Q5GH73	OTTHUMG00000129351	ENST00000416569.2:c.1873T>G	8.37:g.10755515A>C	ENSP00000416707:p.Tyr625Asp					XKR6_ENST00000304437.2_Missense_Mutation_p.Y346D	p.Y625D	NM_173683.3	NP_775954.2	Q5GH73	XKR6_HUMAN		Lung(29;0.0407)|COAD - Colon adenocarcinoma(149;0.0555)	3	1899	-			625					Q8TBA0	Missense_Mutation	SNP	ENST00000416569.2	37	c.1873T>G	CCDS5978.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	15.93|15.93	2.978415|2.978415	0.53720|0.53720	.|.	.|.	ENSG00000171044|ENSG00000171044	ENST00000382461|ENST00000304437;ENST00000416569	.|D;D	.|0.94000	.|-3.11;-3.33	4.55|4.55	4.55|4.55	0.56014|0.56014	.|.	.|0.135739	.|0.51477	.|D	.|0.000086	D|D	0.96037|0.96037	0.8709|0.8709	M|M	0.73962|0.73962	2.25|2.25	0.58432|0.58432	D|D	0.999991|0.999991	.|D	.|0.76494	.|0.999	.|D	.|0.80764	.|0.994	D|D	0.96450|0.96450	0.9333|0.9333	5|10	.|0.87932	.|D	.|0	-7.7754|-7.7754	13.2781|13.2781	0.60198|0.60198	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|625	.|Q5GH73	.|XKR6_HUMAN	E|D	401|346;625	.|ENSP00000307120:Y346D;ENSP00000416707:Y625D	.|ENSP00000307120:Y346D	D|Y	-|-	3|1	2|0	XKR6|XKR6	10792925|10792925	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.992000|0.992000	0.81027|0.81027	9.123000|9.123000	0.94387|0.94387	1.911000|1.911000	0.55334|0.55334	0.449000|0.449000	0.29647|0.29647	GAT|TAT		0.468	XKR6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383958.1	NM_173683		4	130	0	0	0	1	0	4	130					C	10755515	A	C	10755515	3	2	187	1	0	0	0	0	1	0	0	0	17432	449	16	5	56	5	XKR6	8	10755515	Missense_Mutation	SNP	A	TCGA-G9-7523-01A-11D-2260-08		10755515	135608507	26	8732											
MCM4	4173	broad.mit.edu	37	chr8	48883929	48883929	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	catctgtcagctcaatgcgcGcacctctgtcctggcagcag	7	9	10	15	2	4	0	2	0	2	0	5	0	5	0	2	1	3	4	2	1	1	0	rs151044076	byFrequency	TCGA-G9-7523-01A-11D-2260-08	TCGA-G9-7523-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e100b0-9027-432d-9ab6-2690e7753289	0b92342c-e2a3-4f38-9ed1-bd7f1aac35f7	g.chr8:48883929G>A	ENST00000262105.2	+	12	2038	c.1829G>A	c.(1828-1830)cGc>cAc	p.R610H	MCM4_ENST00000523944.1_Missense_Mutation_p.R610H	NM_005914.3	NP_005905.2	P33991	MCM4_HUMAN	minichromosome maintenance complex component 4	610	MCM.				DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA unwinding involved in DNA replication (GO:0006268)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)	MCM complex (GO:0042555)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA helicase activity (GO:0003678)|single-stranded DNA binding (GO:0003697)			biliary_tract(1)|breast(1)|endometrium(7)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	44		all_cancers(86;0.026)|all_epithelial(80;0.000748)|Lung NSC(129;0.00327)|all_lung(136;0.00354)				CTCAATGCGCGCACCTCTGTC	0.493													G|||	2	0.000399361	0	0	5008	,	,		18947	0.002		0	False		,,,				2504	0					ENST00000262105.2																			0				biliary_tract(1)|breast(1)|endometrium(7)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	44						c.(1828-1830)cGc>cAc		minichromosome maintenance complex component 4		G	HIS/ARG,HIS/ARG	0,4406		0,0,2203	101	95	97		1829,1829	5	1	8	dbSNP_134	97	2,8598	2.2+/-6.3	0,2,4298	yes	missense,missense	MCM4	NM_005914.3,NM_182746.2	29,29	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	probably-damaging,probably-damaging	610/864,610/864	48883929	2,13004	2203	4300	6503	SO:0001583	missense	4173				cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	MCM complex	ATP binding|DNA binding|helicase activity|protein binding	g.chr8:48883929G>A		CCDS6143.1	8q12-q13	2008-02-05	2007-04-04		ENSG00000104738	ENSG00000104738			6947	protein-coding gene	gene with protein product		602638	"MCM4 minichromosome maintenance deficient 4 (S. cerevisiae)"	CDC21		7601140	Standard	NM_005914		Approved	CDC54, hCdc21, P1-Cdc21, MGC33310	uc003xql.2	P33991	OTTHUMG00000164205	ENST00000262105.2:c.1829G>A	8.37:g.48883929G>A	ENSP00000262105:p.Arg610His					MCM4_ENST00000523944.1_Missense_Mutation_p.R610H	p.R610H	NM_005914.3	NP_005905.2	P33991	MCM4_HUMAN			12	2038	+		all_cancers(86;0.026)|all_epithelial(80;0.000748)|Lung NSC(129;0.00327)|all_lung(136;0.00354)	610			MCM.		Q8NEH1|Q99658	Missense_Mutation	SNP	ENST00000262105.2	37	c.1829G>A	CCDS6143.1	2	9.157509157509158E-4	0	0.0	0	0.0	2	0.0034965034965034965	0	0.0	G	29.4	4.999642	0.93227	0.0	2.33E-4	ENSG00000104738	ENST00000523944;ENST00000262105;ENST00000396826;ENST00000429229	T;T	0.12361	2.69;2.69	5.87	5.0	0.66597	ATPase, AAA+ type, core (1);	0.046568	0.85682	D	0.000000	T	0.53318	0.1789	H	0.97291	3.975	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79784	0.993;0.993	T	0.72534	-0.4264	10	0.87932	D	0	-20.9739	15.4071	0.74887	0.0666:0.0:0.9334:0.0	.	610;610	B3KMX0;P33991	.;MCM4_HUMAN	H	610;610;597;570	ENSP00000430194:R610H;ENSP00000262105:R610H	ENSP00000262105:R610H	R	+	2	0	MCM4	49046482	1.000000	0.71417	1.000000	0.80357	0.783000	0.44284	7.973000	0.88032	1.636000	0.50526	0.655000	0.94253	CGC		0.493	MCM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377791.1	NM_005914		3	104	0	0	0	1	0	3	104					A	48883929	G	A	48883929	3	1	187	1	0	0	0	0	1	0	0	0	9389	1087	38	1	1875	1	MCM4	8	48883929	Missense_Mutation	SNP	G	TCGA-G9-7523-01A-11D-2260-08	38128414	48883929	97480093	27	8733											
SNTG1	54212	broad.mit.edu	37	chr8	51363119	51363119	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctttttcattcacagcggAactttcaggactacttttta	9	17	6	9	1	3	0	3	0	0	0	3	2	3	2	0	2	4	1	0	2	3	8			TCGA-G9-7523-01A-11D-2260-08	TCGA-G9-7523-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e100b0-9027-432d-9ab6-2690e7753289	0b92342c-e2a3-4f38-9ed1-bd7f1aac35f7	g.chr8:51363119A>T	ENST00000522124.1	+	7	942	c.281A>T	c.(280-282)gAa>gTa	p.E94V	SNTG1_ENST00000518864.1_Missense_Mutation_p.E94V|SNTG1_ENST00000276467.5_Missense_Mutation_p.E94V|SNTG1_ENST00000517473.1_Missense_Mutation_p.E94V	NM_018967.2	NP_061840.1	Q9NSN8	SNTG1_HUMAN	syntrophin, gamma 1	94	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				cell communication (GO:0007154)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|ruffle membrane (GO:0032587)|syntrophin complex (GO:0016013)	protein C-terminus binding (GO:0008022)			NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(36)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	66		all_cancers(86;0.00754)|all_epithelial(80;9.76e-05)|Lung NSC(129;0.000865)|all_lung(136;0.00249)|Colorectal(162;0.22)				TTCACAGCGGAACTTTCAGGA	0.289																																						ENST00000522124.1																			0				NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(36)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	66						c.(280-282)gAa>gTa		syntrophin, gamma 1							163	154	157					8																	51363119		2203	4300	6503	SO:0001583	missense	54212				cell communication	cytoplasm|cytoskeleton|nucleus|ruffle membrane|syntrophin complex	actin binding|protein C-terminus binding	g.chr8:51363119A>T	AJ003030	CCDS6147.1, CCDS75737.1	8q11-q12	2008-07-03				ENSG00000147481			13740	protein-coding gene	gene with protein product		608714				10747910	Standard	NM_018967		Approved	SYN4, G1SYN	uc003xqs.1	Q9NSN8		ENST00000522124.1:c.281A>T	8.37:g.51363119A>T	ENSP00000429842:p.Glu94Val					SNTG1_ENST00000518864.1_Missense_Mutation_p.E94V|SNTG1_ENST00000517473.1_Missense_Mutation_p.E94V|SNTG1_ENST00000276467.5_Missense_Mutation_p.E94V	p.E94V	NM_018967.2	NP_061840.1	Q9NSN8	SNTG1_HUMAN			7	942	+		all_cancers(86;0.00754)|all_epithelial(80;9.76e-05)|Lung NSC(129;0.000865)|all_lung(136;0.00249)|Colorectal(162;0.22)	94			PDZ.		Q2M3Q0|Q9NY98	Missense_Mutation	SNP	ENST00000522124.1	37	c.281A>T	CCDS6147.1	.	.	.	.	.	.	.	.	.	.	A	16.17	3.048522	0.55110	.	.	ENSG00000147481	ENST00000518864;ENST00000522124;ENST00000517473;ENST00000276467	T;T;T;T	0.32988	1.43;1.43;1.43;1.43	5.32	5.32	0.75619	PDZ/DHR/GLGF (4);	0.000000	0.85682	D	0.000000	T	0.49966	0.1588	L	0.53249	1.67	0.80722	D	1	D;D	0.76494	0.999;0.991	D;D	0.78314	0.966;0.991	T	0.51903	-0.8646	10	0.87932	D	0	.	13.2281	0.59927	1.0:0.0:0.0:0.0	.	94;94	Q9NSN8-2;Q9NSN8	.;SNTG1_HUMAN	V	94	ENSP00000429276:E94V;ENSP00000429842:E94V;ENSP00000431123:E94V;ENSP00000276467:E94V	ENSP00000276467:E94V	E	+	2	0	SNTG1	51525672	1.000000	0.71417	1.000000	0.80357	0.347000	0.29111	6.060000	0.71141	2.003000	0.58678	0.528000	0.53228	GAA		0.289	SNTG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377964.1			4	127	0	0	0	1	0	4	127					T	51363119	A	T	51363119	3	4	187	1	0	0	0	0	1	0	0	0	14874	246	9	5	299	5	SNTG1	8	51363119	Missense_Mutation	SNP	A	TCGA-G9-7523-01A-11D-2260-08	2479190	51363119	95000903	28	8734											
PGCP	10404	broad.mit.edu	37	chr8	97847312	97847312	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	accttacatcaactactcaaGgacggtgcaataccgaacgc	14	7	7	13	3	2	0	2	0	0	0	2	2	2	1	2	2	6	1	2	2	7	3			TCGA-G9-7523-01A-11D-2260-08	TCGA-G9-7523-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e100b0-9027-432d-9ab6-2690e7753289	0b92342c-e2a3-4f38-9ed1-bd7f1aac35f7	g.chr8:97847312G>A	ENST00000220763.5	+	3	755	c.545G>A	c.(544-546)aGg>aAg	p.R182K		NM_016134.2	NP_057218.1	Q9Y646	CBPQ_HUMAN	carboxypeptidase Q	182					peptide catabolic process (GO:0043171)|proteolysis (GO:0006508)|thyroid hormone generation (GO:0006590)|tissue regeneration (GO:0042246)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|lysosome (GO:0005764)	carboxypeptidase activity (GO:0004180)|metal ion binding (GO:0046872)|metallodipeptidase activity (GO:0070573)|protein homodimerization activity (GO:0042803)										AACTACTCAAGGACGGTGCAA	0.517																																						ENST00000220763.5																			0											c.(544-546)aGg>aAg		carboxypeptidase Q							117	110	112					8																	97847312		2203	4300	6503	SO:0001583	missense	10404				peptide metabolic process|proteolysis	cytoplasm|extracellular space	metal ion binding|metallocarboxypeptidase activity	g.chr8:97847312G>A	AF107834	CCDS6273.1	8q22.2	2012-02-17			ENSG00000104324	ENSG00000104324			16910	protein-coding gene	gene with protein product	"lysosomal dipeptidase", "Ser-Met dipeptidase", "plasma glutamate carboxypeptidase"					10206990	Standard	NM_016134		Approved	LDP, PGCP	uc003yhw.3	Q9Y646	OTTHUMG00000164690	ENST00000220763.5:c.545G>A	8.37:g.97847312G>A	ENSP00000220763:p.Arg182Lys						p.R182K	NM_016134.2	NP_057218.1	Q9Y646	PGCP_HUMAN			3	755	+			182					B2RD88|Q8NBZ1|Q9UNM8|Q9Y5X6	Missense_Mutation	SNP	ENST00000220763.5	37	c.545G>A	CCDS6273.1	.	.	.	.	.	.	.	.	.	.	G	0.076	-1.192479	0.01607	.	.	ENSG00000104324	ENST00000220763;ENST00000517742	T;T	0.41400	1.0;1.05	5.63	-11.3	0.00108	.	1.689210	0.02949	N	0.141466	T	0.12178	0.0296	N	0.02379	-0.575	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.06180	-1.0841	10	0.05721	T	0.95	-5.6579	6.1151	0.20122	0.5338:0.3021:0.0728:0.0913	.	182;182	B5MDX4;Q9Y646	.;PGCP_HUMAN	K	182	ENSP00000220763:R182K;ENSP00000429146:R182K	ENSP00000220763:R182K	R	+	2	0	AC010859.1	97916488	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.012000	0.12699	-3.884000	0.00095	-1.114000	0.02060	AGG		0.517	CPQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379757.2	NM_016134		3	98	0	0	0	1	0	3	98					A	97847312	G	A	97847312	3	1	187	1	0	0	0	0	1	0	0	0	11786	1000	35	3	551	3	PGCP	8	97847312	Missense_Mutation	SNP	G	TCGA-G9-7523-01A-11D-2260-08	46484193	97847312	48516710	29	8735											
DENND3	22898	broad.mit.edu	37	chr8	142186811	142186811	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgagtgtgacctttggcaccTgatggtgaaggagatgtggg	8	10	17	6	1	0	4	0	3	0	1	0	6	0	4	2	4	0	1	2	4	1	1			TCGA-G9-7523-01A-11D-2260-08	TCGA-G9-7523-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e100b0-9027-432d-9ab6-2690e7753289	0b92342c-e2a3-4f38-9ed1-bd7f1aac35f7	g.chr8:142186811T>C	ENST00000262585.2	+	15	2695	c.2417T>C	c.(2416-2418)cTg>cCg	p.L806P	DENND3_ENST00000424248.1_Missense_Mutation_p.L754P|DENND3_ENST00000519811.1_Missense_Mutation_p.L886P	NM_014957.2	NP_055772.2	A2RUS2	DEND3_HUMAN	DENN/MADD domain containing 3	806					cellular protein catabolic process (GO:0044257)|endosome to lysosome transport (GO:0008333)|positive regulation of Rab GTPase activity (GO:0032851)		Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(4)|stomach(2)|urinary_tract(1)	55	all_cancers(97;7.36e-15)|all_epithelial(106;2.33e-13)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.105)			CTTTGGCACCTGATGGTGAAG	0.542																																						ENST00000519811.1																			0				breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(4)|stomach(2)|urinary_tract(1)	55						c.(2656-2658)cTg>cCg		DENN/MADD domain containing 3							122	104	110					8																	142186811		2203	4300	6503	SO:0001583	missense	22898							g.chr8:142186811T>C	AB020677	CCDS34947.1	8q24.3	2013-01-10				ENSG00000105339		"DENN/MADD domain containing", "WD repeat domain containing"	29134	protein-coding gene	gene with protein product						10048485	Standard	NM_014957		Approved	KIAA0870	uc003yvy.3	A2RUS2		ENST00000262585.2:c.2417T>C	8.37:g.142186811T>C	ENSP00000262585:p.Leu806Pro					DENND3_ENST00000424248.1_Missense_Mutation_p.L754P|DENND3_ENST00000262585.2_Missense_Mutation_p.L806P	p.L886P			A2RUS2	DEND3_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.105)		15	2727	+	all_cancers(97;7.36e-15)|all_epithelial(106;2.33e-13)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		806					B7ZM28|O94947|Q2TAM7|Q6ZMS6|Q96DK3	Missense_Mutation	SNP	ENST00000262585.2	37	c.2657T>C	CCDS34947.1	.	.	.	.	.	.	.	.	.	.	T	25.6	4.651267	0.88056	.	.	ENSG00000105339	ENST00000262585;ENST00000424248;ENST00000519811	T;T;T	0.17691	2.72;2.26;2.7	5.37	5.37	0.77165	.	0.000000	0.85682	D	0.000000	T	0.43389	0.1245	M	0.74881	2.28	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.42816	-0.9429	10	0.87932	D	0	-30.6367	15.3861	0.74703	0.0:0.0:0.0:1.0	.	886;806	E9PF32;A2RUS2	.;DEND3_HUMAN	P	806;754;886	ENSP00000262585:L806P;ENSP00000410594:L754P;ENSP00000428714:L886P	ENSP00000262585:L806P	L	+	2	0	DENND3	142255993	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.440000	0.80464	2.018000	0.59344	0.528000	0.53228	CTG		0.542	DENND3-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_014957		3	127	0	0	0	1	0	3	127					C	142186811	T	C	142186811	3	2	187	1	0	0	0	0	1	0	0	0	4432	1580	55	4	2471	4	DENND3	8	142186811	Missense_Mutation	SNP	T	TCGA-G9-7523-01A-11D-2260-08	44339499	142186811	4177211	30	8736											
BAI1	575	broad.mit.edu	37	chr8	143558610	143558610	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cggacccctgcgcgagcagcGgctgtgcaacaactctgccg	7	5	13	16	5	1	0	0	0	1	0	1	2	1	1	3	2	7	3	3	2	2	0			TCGA-G9-7523-01A-11D-2260-08	TCGA-G9-7523-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e100b0-9027-432d-9ab6-2690e7753289	0b92342c-e2a3-4f38-9ed1-bd7f1aac35f7	g.chr8:143558610G>A	ENST00000517894.1	+	5	2087	c.1193G>A	c.(1192-1194)cGg>cAg	p.R398Q	BAI1_ENST00000323289.5_Missense_Mutation_p.R398Q			O14514	BAI1_HUMAN	brain-specific angiogenesis inhibitor 1	398	TSP type-1 2. {ECO:0000255|PROSITE- ProRule:PRU00210}.				axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell proliferation (GO:0008285)|neuropeptide signaling pathway (GO:0007218)|peripheral nervous system development (GO:0007422)|signal transduction (GO:0007165)	cell-cell junction (GO:0005911)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(28)|ovary(4)|pancreas(1)|prostate(7)	57	all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					CGCGAGCAGCGGCTGTGCAAC	0.731																																						ENST00000517894.1																			0				NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(28)|ovary(4)|pancreas(1)|prostate(7)	57						c.(1192-1194)cGg>cAg		brain-specific angiogenesis inhibitor 1							16	20	19					8																	143558610		2056	4176	6232	SO:0001583	missense	575				axonogenesis|cell adhesion|negative regulation of angiogenesis|negative regulation of cell proliferation|neuropeptide signaling pathway|peripheral nervous system development	cell-cell junction|integral to plasma membrane	G-protein coupled receptor activity|protein binding	g.chr8:143558610G>A	AB005297	CCDS64985.1	8q24.3	2014-08-08			ENSG00000181790	ENSG00000181790		"-", "GPCR / Class B : Orphans"	943	protein-coding gene	gene with protein product		602682				9533023	Standard	NM_001702		Approved		uc003ywm.3	O14514	OTTHUMG00000164732	ENST00000517894.1:c.1193G>A	8.37:g.143558610G>A	ENSP00000430945:p.Arg398Gln					BAI1_ENST00000323289.5_Missense_Mutation_p.R398Q	p.R398Q			O14514	BAI1_HUMAN			5	2087	+	all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)		398			TSP type-1 2.			Missense_Mutation	SNP	ENST00000517894.1	37	c.1193G>A		.	.	.	.	.	.	.	.	.	.	G	31	5.090074	0.94149	.	.	ENSG00000181790	ENST00000517894;ENST00000323289	T;T	0.49720	0.77;0.77	4.44	4.44	0.53790	.	0.000000	0.64402	U	0.000002	T	0.48660	0.1512	N	0.25789	0.76	0.44843	D	0.997857	D	0.71674	0.998	P	0.59948	0.866	T	0.48043	-0.9069	10	0.51188	T	0.08	.	10.1585	0.42838	0.0936:0.0:0.9064:0.0	.	398	E9PBK0	.	Q	398	ENSP00000430945:R398Q;ENSP00000313046:R398Q	ENSP00000313046:R398Q	R	+	2	0	BAI1	143555612	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	7.674000	0.83992	2.152000	0.67230	0.561000	0.74099	CGG		0.731	BAI1-001	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000379963.3	NM_001702		3	65	0	0	0	1	0	3	65					A	143558610	G	A	143558610	3	1	187	1	0	0	0	0	1	0	0	0	1298	1116	39	2	1207	2	BAI1	8	143558610	Missense_Mutation	SNP	G	TCGA-G9-7523-01A-11D-2260-08	1371799	143558610	2805412	31	8737											
EXT2	2132	broad.mit.edu	37	chr11	44228397	44228397	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agttgtgaggactgctgaaaAcaagttaagtaaccgtttct	13	12	10	6	1	1	2	0	2	1	0	1	3	1	3	1	1	3	5	1	1	5	4			TCGA-G9-7523-01A-11D-2260-08	TCGA-G9-7523-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e100b0-9027-432d-9ab6-2690e7753289	0b92342c-e2a3-4f38-9ed1-bd7f1aac35f7	g.chr11:44228397A>T	ENST00000343631.3	+	10	1679	c.1550A>T	c.(1549-1551)aAc>aTc	p.N517I	EXT2_ENST00000395673.3_Missense_Mutation_p.N550I|EXT2_ENST00000533608.1_Missense_Mutation_p.N517I|EXT2_ENST00000358681.4_Missense_Mutation_p.N527I			Q93063	EXT2_HUMAN	exostosin glycosyltransferase 2	517	Substrate binding. {ECO:0000250|UniProtKB:Q9ES89}.				carbohydrate metabolic process (GO:0005975)|cell differentiation (GO:0030154)|cellular polysaccharide biosynthetic process (GO:0033692)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process (GO:0015014)|mesoderm formation (GO:0001707)|ossification (GO:0001503)|protein glycosylation (GO:0006486)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)|membrane (GO:0016020)	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity (GO:0050508)|glucuronosyltransferase activity (GO:0015020)|heparan sulfate N-acetylglucosaminyltransferase activity (GO:0042328)|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity (GO:0050509)|protein heterodimerization activity (GO:0046982)|transferase activity, transferring glycosyl groups (GO:0016757)	p.N517S(1)		breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|lung(17)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	32						ACTGCTGAAAACAAGTTAAGT	0.403			"Mis, N, F, S"			"exostoses, osteosarcoma"			Hereditary Multiple Exostoses																													ENST00000395673.3			yes	Rec		Multiple Exostoses Type 2	11	11p12-p11	2132	"Mis, N, F, S"	multiple exostoses type 2 gene			M		"exostoses, osteosarcoma"			1	Substitution - Missense(1)	p.N517S(1)	skin(1)	breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|lung(17)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	32						c.(1648-1650)aAc>aTc		exostosin glycosyltransferase 2							128	126	127					11																	44228397		2203	4299	6502	SO:0001583	missense	2132	Hereditary Multiple Exostoses	Familial Cancer Database	HME, Hereditary Exostoses, Multiple Osteochondromatosis, Multiple Cartilaginous Exostoses	glycosaminoglycan biosynthetic process|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|ossification|signal transduction	Golgi membrane|integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|heparan sulfate N-acetylglucosaminyltransferase activity|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity|protein heterodimerization activity	g.chr11:44228397A>T		CCDS7908.1, CCDS53618.1, CCDS53619.1	11p12-p11	2014-09-17	2013-03-01		ENSG00000151348	ENSG00000151348	2.4.1.224, 2.4.1.225	"Exostosin glycosyltransferase family"	3513	protein-coding gene	gene with protein product	"Glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N- acetylglucosaminyltransferase", "N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase"	608210	"exostoses (multiple) 2", "exostosin 2"			8162019, 9576285	Standard	NM_000401		Approved	SOTV	uc001mya.3	Q93063	OTTHUMG00000166498	ENST00000343631.3:c.1550A>T	11.37:g.44228397A>T	ENSP00000342656:p.Asn517Ile					EXT2_ENST00000358681.4_Missense_Mutation_p.N527I|EXT2_ENST00000343631.3_Missense_Mutation_p.N517I|EXT2_ENST00000533608.1_Missense_Mutation_p.N517I	p.N550I	NM_000401.3	NP_000392.3	Q93063	EXT2_HUMAN			10	1705	+			517					B2R5Z6|C9JU51|J3KPT2|O15288	Missense_Mutation	SNP	ENST00000343631.3	37	c.1649A>T	CCDS7908.1	.	.	.	.	.	.	.	.	.	.	A	22.1	4.250542	0.80024	.	.	ENSG00000151348	ENST00000533608;ENST00000358681;ENST00000395673;ENST00000343631	D;D;D;D	0.82711	-1.64;-1.64;-1.64;-1.64	5.81	5.81	0.92471	EXTL2, alpha-1,4-N-acetylhexosaminyltransferase (1);	0.000000	0.85682	D	0.000000	D	0.93190	0.7831	M	0.92122	3.275	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.999;1.0;1.0;0.999;1.0	D	0.94666	0.7852	10	0.87932	D	0	-1.636	16.1699	0.81801	1.0:0.0:0.0:0.0	.	517;527;527;517;530	Q6NUL1;C9JU51;Q93063-2;Q93063;D3DR24	.;.;.;EXT2_HUMAN;.	I	517;527;550;517	ENSP00000431173:N517I;ENSP00000351509:N527I;ENSP00000379032:N550I;ENSP00000342656:N517I	ENSP00000342656:N517I	N	+	2	0	EXT2	44184973	1.000000	0.71417	1.000000	0.80357	0.638000	0.38207	9.210000	0.95106	2.217000	0.71921	0.533000	0.62120	AAC		0.403	EXT2-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390074.1	NM_000401		4	129	0	0	0	1	0	4	129					T	44228397	A	T	44228397	3	4	187	1	0	0	0	0	1	0	0	0	5324	43	2	5	1784	5	EXT2	11	44228397	Missense_Mutation	SNP	A	TCGA-G9-7523-01A-11D-2260-08		44228397	90778119	32	8738											
FNBP4	23360	broad.mit.edu	37	chr11	47744589	47744591	+	In_Frame_Del	DEL	GGA	GGA	-																															ttttgggagctggtggtggtGgaggaggaggaggaggaggt																										TCGA-G9-7523-01A-11D-2260-08	TCGA-G9-7523-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e100b0-9027-432d-9ab6-2690e7753289	0b92342c-e2a3-4f38-9ed1-bd7f1aac35f7	g.chr11:47744589_47744591delGGA	ENST00000263773.5	-	15	2754_2756	c.2742_2744delTCC	c.(2740-2745)cctcca>cca	p.914_915PP>P		NM_015308.2	NP_056123.2	Q8N3X1	FNBP4_HUMAN	formin binding protein 4	914	Pro-rich.					nucleus (GO:0005634)		p.P914P(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	44						tggtggtggtggaggaggaggag	0.458																																						ENST00000263773.5																			1	Substitution - coding silent(1)	p.P914P(1)	endometrium(1)	NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	44						c.(2740-2745)cca>cc		formin binding protein 4				3,75,3660		0,0,3,5,65,1796						-0.3	0.9			14	11,190,7695		0,0,11,2,186,3749	no	codingComplex	FNBP4	NM_015308.2		0,0,14,7,251,5545	A1A1,A1A2,A1R,A2A2,A2R,RR		2.5456,2.0867,2.3981				14,265,11355				SO:0001651	inframe_deletion	23360							g.chr11:47744589_47744591delGGA	BC037404	CCDS41644.1	11q12.1	2008-02-05			ENSG00000109920	ENSG00000109920			19752	protein-coding gene	gene with protein product		615265				10231032	Standard	NM_015308		Approved	KIAA1014	uc009ylv.3	Q8N3X1	OTTHUMG00000166533	ENST00000263773.5:c.2742_2744delTCC	11.37:g.47744598_47744600delGGA	ENSP00000263773:p.Pro918del						p.PP916del	NM_015308.2	NP_056123.2	Q8N3X1	FNBP4_HUMAN			15	2754_2756	-			916			Pro-rich.		Q9H985|Q9NT81|Q9Y2L7	In_Frame_Del	DEL	ENST00000263773.5	37	c.2742_2744delTCC	CCDS41644.1																																																																																				0.458	FNBP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390237.3			2	4						2	4	---	---	---	---	-	47744591	GGA	-	47744589	7	5	187	1	0	1	0	1	0	0	0	0	5967	1348	47	0	321	0	FNBP4	11	47744589	In_Frame_Del	DEL	GGA	TCGA-G9-7523-01A-11D-2260-08	3516192	47744589	87261927	33	8739											
C11orf84	144097	broad.mit.edu	37	chr11	63581248	63581248	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gacgaggaggaggccatggtGgtggccgtaattccgcggcc	7	6	18	10	4	0	0	0	0	0	0	1	4	1	2	4	7	0	1	4	7	1	2			TCGA-G9-7523-01A-11D-2260-08	TCGA-G9-7523-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e100b0-9027-432d-9ab6-2690e7753289	0b92342c-e2a3-4f38-9ed1-bd7f1aac35f7	g.chr11:63581248G>A	ENST00000294244.4	+	1	389	c.90G>A	c.(88-90)gtG>gtA	p.V30V		NM_138471.1	NP_612480.1	Q9BUA3	CK084_HUMAN	chromosome 11 open reading frame 84	30										endometrium(3)|kidney(1)|lung(3)|skin(1)	8						AGGCCATGGTGGTGGCCGTAA	0.687																																						ENST00000294244.4																			0				endometrium(3)|kidney(1)|lung(3)|skin(1)	8						c.(88-90)gtG>gtA		chromosome 11 open reading frame 84							35	33	34					11																	63581248		2201	4297	6498	SO:0001819	synonymous_variant	144097							g.chr11:63581248G>A	BC007540	CCDS31594.1	11q13.1	2014-02-10			ENSG00000168005	ENSG00000168005			25115	protein-coding gene	gene with protein product						12477932	Standard	NM_138471		Approved		uc001nxt.3	Q9BUA3	OTTHUMG00000167746	ENST00000294244.4:c.90G>A	11.37:g.63581248G>A							p.V30V	NM_138471.1	NP_612480.1	Q9BUA3	CK084_HUMAN			1	389	+			30					Q68CV7|Q6PHS2|Q96IH0	Silent	SNP	ENST00000294244.4	37	c.90G>A	CCDS31594.1																																																																																				0.687	C11orf84-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396084.1	NM_138471		3	49	0	0	0	1	0	3	49					A	63581248	G	A	63581248	2	1	187	1	0	0	0	0	0	0	0	1	1667	1335	47	3		3	C11orf84	11	63581248	Silent	SNP	G	TCGA-G9-7523-01A-11D-2260-08	15836659	63581248	71425268	34	8740											
NRXN2	9379	broad.mit.edu	37	chr11	64418799	64418799	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagaagcccatcaggggccGtggtcttgaactggaagaag	12	6	15	8	1	2	3	1	1	1	2	2	5	2	4	2	4	2	0	2	4	5	1	rs139892428		TCGA-G9-7523-01A-11D-2260-08	TCGA-G9-7523-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e100b0-9027-432d-9ab6-2690e7753289	0b92342c-e2a3-4f38-9ed1-bd7f1aac35f7	g.chr11:64418799G>A	ENST00000377551.1	-	13	3057	c.2846C>T	c.(2845-2847)aCg>aTg	p.T949M	NRXN2_ENST00000377559.3_Missense_Mutation_p.T909M|AP001092.4_ENST00000433606.1_RNA|NRXN2_ENST00000409571.1_Missense_Mutation_p.T942M|NRXN2_ENST00000265459.6_Missense_Mutation_p.T949M			Q9P2S2	NRX2A_HUMAN	neurexin 2	949	Laminin G-like 5. {ECO:0000255|PROSITE- ProRule:PRU00122}.				adult behavior (GO:0030534)|gephyrin clustering (GO:0097116)|neuroligin clustering (GO:0097118)|neuron cell-cell adhesion (GO:0007158)|neurotransmitter secretion (GO:0007269)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	integral component of membrane (GO:0016021)	calcium channel regulator activity (GO:0005246)|cell adhesion molecule binding (GO:0050839)|metal ion binding (GO:0046872)|neuroligin family protein binding (GO:0097109)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	71						ATCAGGGGCCGTGGTCTTGAA	0.582											OREG0021057	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000265459.6																			0				breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	71						c.(2845-2847)aCg>aTg		neurexin 2		G	MET/THR,MET/THR	0,4402		0,0,2201	81	63	69		2846,2726	4.2	1	11	dbSNP_134	69	1,8593	1.2+/-3.3	0,1,4296	no	missense,missense	NRXN2	NM_015080.3,NM_138732.2	81,81	0,1,6497	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging	949/1713,909/1643	64418799	1,12995	2201	4297	6498	SO:0001583	missense	9379				cell adhesion	integral to membrane	metal ion binding	g.chr11:64418799G>A		CCDS8077.1, CCDS31597.1, CCDS8078.1	11q13	2008-07-18			ENSG00000110076	ENSG00000110076			8009	protein-coding gene	gene with protein product	"neurexin II"	600566				1621094	Standard	NM_015080		Approved		uc021qkw.1	P58401	OTTHUMG00000045214	ENST00000377551.1:c.2846C>T	11.37:g.64418799G>A	ENSP00000366774:p.Thr949Met		OREG0021057	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1076	AP001092.4_ENST00000433606.1_RNA|NRXN2_ENST00000409571.1_Missense_Mutation_p.T942M|NRXN2_ENST00000377551.1_Missense_Mutation_p.T949M|NRXN2_ENST00000377559.3_Missense_Mutation_p.T909M	p.T949M	NM_015080.3	NP_055895.1	Q9P2S2	NRX2A_HUMAN			14	3307	-			949			Laminin G-like 5.		A7E2C1|Q9Y2D6	Missense_Mutation	SNP	ENST00000377551.1	37	c.2846C>T	CCDS8077.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.077618	0.76528	0.0	1.16E-4	ENSG00000110076	ENST00000377551;ENST00000377559;ENST00000265459;ENST00000345863;ENST00000409571	T;T;T;T	0.80033	-1.33;-1.33;-1.33;-1.33	4.2	4.2	0.49525	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.122222	0.27504	U	0.019064	D	0.86740	0.6005	M	0.70108	2.13	0.35860	D	0.827426	D;D;D	0.89917	1.0;0.998;0.984	D;D;P	0.69142	0.962;0.957;0.579	D	0.89903	0.4046	10	0.66056	D	0.02	.	10.0322	0.42107	0.0:0.2056:0.7944:0.0	.	909;949;695	Q9P2S2-2;Q9P2S2;E7EV67	.;NRX2A_HUMAN;.	M	949;909;949;909;942	ENSP00000366774:T949M;ENSP00000366782:T909M;ENSP00000265459:T949M;ENSP00000386416:T942M	ENSP00000265459:T949M	T	-	2	0	NRXN2	64175375	1.000000	0.71417	0.996000	0.52242	0.981000	0.71138	7.630000	0.83225	2.172000	0.68678	0.561000	0.74099	ACG		0.582	NRXN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000104967.3	NM_015080		3	62	0	0	0	1	0	3	62					A	64418799	G	A	64418799	3	1	187	1	0	0	0	0	1	0	0	0	10666	1145	40	1	2601	1	NRXN2	11	64418799	Missense_Mutation	SNP	G	TCGA-G9-7523-01A-11D-2260-08	837551	64418799	70587717	35	8741											
PHLDB1	23187	broad.mit.edu	37	chr11	118498834	118498834	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gggccgaacattttcagatgGgttagccacccgtaccctgc	8	9	11	13	2	1	1	1	0	0	1	1	2	1	1	4	2	4	2	4	2	3	4	rs141245340		TCGA-G9-7523-01A-11D-2260-08	TCGA-G9-7523-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e100b0-9027-432d-9ab6-2690e7753289	0b92342c-e2a3-4f38-9ed1-bd7f1aac35f7	g.chr11:118498834G>T	ENST00000361417.2	+	7	1706	c.1295G>T	c.(1294-1296)gGg>gTg	p.G432V	PHLDB1_ENST00000356063.5_Missense_Mutation_p.G432V	NM_015157.3	NP_055972.1	Q86UU1	PHLB1_HUMAN	pleckstrin homology-like domain, family B, member 1	432										breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(10)|liver(3)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(1)	46	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)		TTTTCAGATGGGTTAGCCACC	0.642																																						ENST00000361417.2																			0				breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(10)|liver(3)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(1)	46						c.(1294-1296)gGg>gTg		pleckstrin homology-like domain, family B, member 1							69	77	74					11																	118498834		2200	4295	6495	SO:0001583	missense	23187							g.chr11:118498834G>T		CCDS8401.1, CCDS44750.1	11q23.3	2013-01-10			ENSG00000019144	ENSG00000019144		"Pleckstrin homology (PH) domain containing"	23697	protein-coding gene	gene with protein product		612834				14532993	Standard	NM_015157		Approved	FLJ00141, LL5a, KIAA0638	uc001pts.3	Q86UU1	OTTHUMG00000166341	ENST00000361417.2:c.1295G>T	11.37:g.118498834G>T	ENSP00000354498:p.Gly432Val					PHLDB1_ENST00000356063.5_Missense_Mutation_p.G432V	p.G432V	NM_015157.3	NP_055972.1	Q86UU1	PHLB1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)	7	1706	+	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)|all_neural(223;0.224)	432					B0YJ63|B0YJ64|O75133|Q4KMF8|Q8TEQ2	Missense_Mutation	SNP	ENST00000361417.2	37	c.1295G>T	CCDS8401.1	.	.	.	.	.	.	.	.	.	.	G	10.09	1.256015	0.22965	.	.	ENSG00000019144	ENST00000361417;ENST00000361465;ENST00000356063	T;T	0.30182	1.54;1.56	4.79	4.79	0.61399	.	0.519199	0.19915	N	0.103201	T	0.31263	0.0791	L	0.47716	1.5	0.80722	D	1	P;P;B	0.46512	0.763;0.879;0.18	B;B;B	0.42827	0.229;0.399;0.048	T	0.10177	-1.0641	10	0.62326	D	0.03	-39.2094	13.5965	0.61994	0.0:0.1547:0.8453:0.0	.	432;432;432	Q86UU1-3;Q86UU1-2;Q86UU1	.;.;PHLB1_HUMAN	V	432;191;432	ENSP00000354498:G432V;ENSP00000348359:G432V	ENSP00000348359:G432V	G	+	2	0	PHLDB1	118004044	0.057000	0.20700	0.995000	0.50966	0.981000	0.71138	0.236000	0.17967	2.507000	0.84556	0.462000	0.41574	GGG		0.642	PHLDB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389279.1	NM_015157		5	171	1	0	1.23904e-05	1	1.3263e-05	5	171					T	118498834	G	T	118498834	3	4	187	1	0	0	0	0	1	0	0	0	11851	1232	43	5	1313	5	PHLDB1	11	118498834	Missense_Mutation	SNP	G	TCGA-G9-7523-01A-11D-2260-08	54080035	118498834	16507682	36	8742											
ANKRD33	341405	broad.mit.edu	37	chr12	52284995	52284995	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gccgaagcccagtccttcagGacaccaaagtctggcccttc	9	7	9	16	1	2	0	1	0	1	0	4	2	3	1	5	2	1	0	5	2	2	2	rs199612364		TCGA-G9-7523-01A-11D-2260-08	TCGA-G9-7523-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e100b0-9027-432d-9ab6-2690e7753289	0b92342c-e2a3-4f38-9ed1-bd7f1aac35f7	g.chr12:52284995G>A	ENST00000340970.4	+	6	1061	c.690G>A	c.(688-690)agG>agA	p.R230R	ANKRD33_ENST00000547119.1_3'UTR|ANKRD33_ENST00000301190.6_Missense_Mutation_p.G422E|ANKRD33_ENST00000538991.1_Silent_p.R161R			Q7Z3H0	ANR33_HUMAN	ankyrin repeat domain 33	230					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|skeletal muscle cell differentiation (GO:0035914)	cytosol (GO:0005829)|nucleus (GO:0005634)				endometrium(2)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	22				BRCA - Breast invasive adenocarcinoma(357;0.0969)		AGTCCTTCAGGACACCAAAGT	0.597																																						ENST00000301190.6																			0				endometrium(2)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	22						c.(1264-1266)gGa>gAa		ankyrin repeat domain 33							60	53	56					12																	52284995		2203	4300	6503	SO:0001819	synonymous_variant	341405							g.chr12:52284995G>A		CCDS8815.1, CCDS44892.1	12q13.13	2013-01-10	2005-01-07	2005-01-07		ENSG00000167612		"Ankyrin repeat domain containing"	13788	protein-coding gene	gene with protein product			"chromosome 12 open reading frame 7"	C12orf7		20026326	Standard	NM_182608		Approved	DKFZp686O1689, PANKY	uc001rzd.3	Q7Z3H0	OTTHUMG00000169506	ENST00000340970.4:c.690G>A	12.37:g.52284995G>A						ANKRD33_ENST00000538991.1_Silent_p.R161R|ANKRD33_ENST00000340970.4_Silent_p.R230R|ANKRD33_ENST00000547119.1_3'UTR	p.G422E	NM_001130015.1|NM_182608.3	NP_001123487.1|NP_872414.3	Q7Z3H0	ANR33_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.0969)	5	1492	+			0					Q0VAA7|Q5K619|Q5K621|Q5K622|Q5K623|Q5K624|Q6ZUN0	Missense_Mutation	SNP	ENST00000340970.4	37	c.1265G>A	CCDS44892.1	.	.	.	.	.	.	.	.	.	.	G	5.726	0.318451	0.10845	.	.	ENSG00000167612	ENST00000301190	T	0.22743	1.94	4.58	3.65	0.41850	.	0.237014	0.21943	N	0.066853	T	0.11024	0.0269	.	.	.	0.09310	N	1	B	0.09022	0.002	B	0.14578	0.011	T	0.31280	-0.9949	9	0.14656	T	0.56	-0.9645	7.9973	0.30275	0.1184:0.0:0.8816:0.0	.	422	Q7Z3H0-2	.	E	422	ENSP00000301190:G422E	ENSP00000301190:G422E	G	+	2	0	ANKRD33	50571262	0.261000	0.24063	0.005000	0.12908	0.013000	0.08279	1.953000	0.40352	1.211000	0.43351	0.561000	0.74099	GGA		0.597	ANKRD33-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404515.1	NM_182608		3	64	0	0	0	1	0	3	64					A	52284995	G	A	52284995	2	1	187	1	0	0	0	0	0	0	0	1	661	1174	41	3		3	ANKRD33	12	52284995	Silent	SNP	G	TCGA-G9-7523-01A-11D-2260-08		52284995	81566900	37	8743											
NXPH4	11247	broad.mit.edu	37	chr12	57619192	57619192	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggcccccgctggggatggcaGcagcagcggcggggcccggg	4	2	21	14	4	0	0	0	0	0	0	0	1	0	1	3	8	3	4	3	8	0	0			TCGA-G9-7523-01A-11D-2260-08	TCGA-G9-7523-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e100b0-9027-432d-9ab6-2690e7753289	0b92342c-e2a3-4f38-9ed1-bd7f1aac35f7	g.chr12:57619192G>A	ENST00000349394.5	+	2	764	c.589G>A	c.(589-591)Gca>Aca	p.A197T	Y_RNA_ENST00000365197.1_RNA|NXPH4_ENST00000555154.1_3'UTR	NM_007224.3	NP_009155.1	O95158	NXPH4_HUMAN	neurexophilin 4	197	IV (linker domain).				neuropeptide signaling pathway (GO:0007218)	extracellular region (GO:0005576)				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|lung(2)|stomach(1)|upper_aerodigestive_tract(1)	10						GGGGATGGCAGCAGCAGCGGC	0.766																																						ENST00000349394.5																			0				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|lung(2)|stomach(1)|upper_aerodigestive_tract(1)	10						c.(589-591)Gca>Aca		neurexophilin 4							13	18	17					12																	57619192		2077	4132	6209	SO:0001583	missense	11247				neuropeptide signaling pathway	extracellular region		g.chr12:57619192G>A	AF043469	CCDS8933.1	12q13.3	2014-09-04			ENSG00000182379	ENSG00000182379			8078	protein-coding gene	gene with protein product		604637				9570794	Standard	NM_007224		Approved	NPH4	uc009zpj.4	O95158	OTTHUMG00000171241	ENST00000349394.5:c.589G>A	12.37:g.57619192G>A	ENSP00000333593:p.Ala197Thr					NXPH4_ENST00000555154.1_3'UTR	p.A197T	NM_007224.3	NP_009155.1	O95158	NXPH4_HUMAN			2	764	+			197			IV (linker domain).		A8K4I4|Q7Z6L3|Q8N462	Missense_Mutation	SNP	ENST00000349394.5	37	c.589G>A	CCDS8933.1	.	.	.	.	.	.	.	.	.	.	G	10.23	1.294291	0.23564	.	.	ENSG00000182379	ENST00000349394	.	.	.	3.31	2.34	0.29019	.	2.550150	0.02576	N	0.098310	T	0.17280	0.0415	N	0.08118	0	0.09310	N	1	P	0.51057	0.941	B	0.37780	0.258	T	0.26710	-1.0095	9	0.66056	D	0.02	.	7.7042	0.28640	0.0:0.0:0.7516:0.2484	.	197	O95158	NXPH4_HUMAN	T	197	.	ENSP00000333593:A197T	A	+	1	0	NXPH4	55905459	.	.	0.112000	0.21494	0.677000	0.39632	.	.	1.672000	0.50884	0.462000	0.41574	GCA		0.766	NXPH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412474.1	NM_007224		3	64	0	0	0	1	0	3	64					A	57619192	G	A	57619192	3	1	187	1	0	0	0	0	1	0	0	0	10793	971	34	3	595	3	NXPH4	12	57619192	Missense_Mutation	SNP	G	TCGA-G9-7523-01A-11D-2260-08	5334197	57619192	76232703	38	8744											
DPY19L2	283417	broad.mit.edu	37	chr12	64041106	64041106	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttctagtccaaataaattcaTtattcccatgaatgtgcaat	14	15	4	8	0	2	1	1	1	1	0	4	1	4	1	2	0	1	1	2	0	7	6	rs200602630		TCGA-G9-7523-01A-11D-2260-08	TCGA-G9-7523-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e100b0-9027-432d-9ab6-2690e7753289	0b92342c-e2a3-4f38-9ed1-bd7f1aac35f7	g.chr12:64041106T>C	ENST00000324472.4	-	5	811	c.628A>G	c.(628-630)Atg>Gtg	p.M210V	RP11-415I12.3_ENST00000509615.2_RNA	NM_173812.4	NP_776173.3	Q6NUT2	D19L2_HUMAN	dpy-19-like 2 (C. elegans)	210					multicellular organismal development (GO:0007275)|spermatid development (GO:0007286)	integral component of membrane (GO:0016021)|nuclear inner membrane (GO:0005637)|nucleus (GO:0005634)	transferase activity, transferring glycosyl groups (GO:0016757)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	45			GBM - Glioblastoma multiforme(1;2.77e-05)	GBM - Glioblastoma multiforme(28;0.044)		AATAAATTCATTATTCCCATG	0.318																																						ENST00000324472.4																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						c.(628-630)Atg>Gtg		dpy-19-like 2 (C. elegans)							64	68	67					12																	64041106		2203	4298	6501	SO:0001583	missense	283417				multicellular organismal development|spermatid development	integral to membrane		g.chr12:64041106T>C		CCDS31851.1	12q14.2	2012-11-14			ENSG00000177990	ENSG00000177990			19414	protein-coding gene	gene with protein product	"spermatogenesis associated 34"	613893				12975309	Standard	XM_006719348		Approved	FLJ32949, SPATA34	uc001srp.1	Q6NUT2	OTTHUMG00000168712	ENST00000324472.4:c.628A>G	12.37:g.64041106T>C	ENSP00000315988:p.Met210Val					RP11-415I12.3_ENST00000509615.2_RNA	p.M210V	NM_173812.4	NP_776173.3	Q6NUT2	D19L2_HUMAN	GBM - Glioblastoma multiforme(1;2.77e-05)	GBM - Glioblastoma multiforme(28;0.044)	5	811	-			210					A4FVC1|B4E191|Q3ZCX2|Q6UWG8|Q96LZ9	Missense_Mutation	SNP	ENST00000324472.4	37	c.628A>G	CCDS31851.1	137	0.06272893772893773	57	0.11585365853658537	8	0.022099447513812154	55	0.09615384615384616	17	0.022427440633245383	T	2.494	-0.316745	0.05386	.	.	ENSG00000177990	ENST00000324472	T	0.54479	0.57	2.35	1.07	0.20283	.	0.097071	0.64402	U	0.000002	T	0.00440	0.0014	.	.	.	0.80722	D	1	B	0.24258	0.1	B	0.22152	0.038	T	0.04373	-1.0956	8	.	.	.	.	4.6287	0.12491	0.2818:0.0:0.0:0.7182	.	210	Q6NUT2	D19L2_HUMAN	V	210	ENSP00000315988:M210V	.	M	-	1	0	DPY19L2	62327373	1.000000	0.71417	0.995000	0.50966	0.654000	0.38779	3.307000	0.51888	0.118000	0.18165	0.155000	0.16302	ATG		0.318	DPY19L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400689.2	NM_173812		3	135	0	0	0	1	0	3	135					C	64041106	T	C	64041106	3	2	187	1	0	0	0	0	1	0	0	0	4741	1493	52	4	1720	4	DPY19L2	12	64041106	Missense_Mutation	SNP	T	TCGA-G9-7523-01A-11D-2260-08	6421914	64041106	69810789	39	8745											
RAB35	11021	broad.mit.edu	37	chr12	120536625	120536625	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agggcctcacctcttccacgTtgacattctccttggcgctg	5	12	9	15	2	3	1	1	1	2	0	5	1	4	1	4	2	0	2	4	2	0	4	rs202018032	byFrequency	TCGA-G9-7523-01A-11D-2260-08	TCGA-G9-7523-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e100b0-9027-432d-9ab6-2690e7753289	0b92342c-e2a3-4f38-9ed1-bd7f1aac35f7	g.chr12:120536625T>C	ENST00000229340.5	-	5	655	c.467A>G	c.(466-468)aAc>aGc	p.N156S	RAB35_ENST00000432953.2_Intron|RAB35_ENST00000543364.1_5'UTR|RAB35_ENST00000534951.1_Intron	NM_001167606.1|NM_006861.6	NP_001161078.1|NP_006852.1	Q15286	RAB35_HUMAN	RAB35, member RAS oncogene family	156					antigen processing and presentation (GO:0019882)|cellular response to nerve growth factor stimulus (GO:1990090)|cytokinesis (GO:0000910)|endosomal transport (GO:0016197)|GTP catabolic process (GO:0006184)|neuron projection development (GO:0031175)|plasma membrane to endosome transport (GO:0048227)|protein localization (GO:0008104)|protein localization to endosome (GO:0036010)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	cell projection membrane (GO:0031253)|clathrin-coated endocytic vesicle (GO:0045334)|coated pit (GO:0005905)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|intercellular bridge (GO:0045171)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			endometrium(1)|ovary(1)	2	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.248)		CTCTTCCACGTTGACATTCTC	0.597													T|||	2	0.000399361	0	0	5008	,	,		18688	0.001		0.001	False		,,,				2504	0					ENST00000229340.5																			0				endometrium(1)|ovary(1)	2						c.(466-468)aAc>aGc		RAB35, member RAS oncogene family		T	,SER/ASN	0,4168		0,0,2084	95	97	96		,467	4	1	12		96	1,8429		0,1,4214	no	intron,missense	RAB35	NM_001167606.1,NM_006861.6	,46	0,1,6298	CC,CT,TT		0.0119,0.0,0.0079	,benign	,156/202	120536625	1,12597	2084	4215	6299	SO:0001583	missense	11021				cytokinesis|endosome transport|protein transport|small GTPase mediated signal transduction	cell projection membrane|clathrin-coated endocytic vesicle|coated pit|endosome|intercellular bridge|melanosome	GTP binding|GTPase activity|phosphatidylinositol-4,5-bisphosphate binding	g.chr12:120536625T>C	X79781	CCDS41846.1, CCDS53836.1	12q24	2008-07-28			ENSG00000111737	ENSG00000111737		"RAB, member RAS oncogene"	9774	protein-coding gene	gene with protein product		604199					Standard	NM_001167606		Approved	H-ray	uc009zww.2	Q15286	OTTHUMG00000169159	ENST00000229340.5:c.467A>G	12.37:g.120536625T>C	ENSP00000229340:p.Asn156Ser					RAB35_ENST00000534951.1_Intron|RAB35_ENST00000543364.1_5'UTR|RAB35_ENST00000432953.2_Intron	p.N156S	NM_001167606.1|NM_006861.6	NP_001161078.1|NP_006852.1	Q15286	RAB35_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.248)	5	655	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		156					B2R6E0|B4E390	Missense_Mutation	SNP	ENST00000229340.5	37	c.467A>G	CCDS41846.1	.	.	.	.	.	.	.	.	.	.	T	16.61	3.170496	0.57584	0.0	1.19E-4	ENSG00000111737	ENST00000229340;ENST00000538903	D;D	0.82255	-1.59;-1.59	5.16	4.02	0.46733	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.83083	0.5177	M	0.84683	2.71	0.80722	D	1	B	0.31274	0.317	B	0.30646	0.118	D	0.84778	0.0771	10	0.87932	D	0	.	10.2959	0.43625	0.0:0.0777:0.0:0.9223	.	156	Q15286	RAB35_HUMAN	S	156;140	ENSP00000229340:N156S;ENSP00000443994:N140S	ENSP00000229340:N156S	N	-	2	0	RAB35	119021008	1.000000	0.71417	1.000000	0.80357	0.876000	0.50452	6.021000	0.70832	1.925000	0.55765	0.459000	0.35465	AAC		0.597	RAB35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402599.2			3	59	0	0	0	1	0	3	59					C	120536625	T	C	120536625	3	2	187	1	0	0	0	0	1	0	0	0	12925	1725	60	4	146	4	RAB35	12	120536625	Missense_Mutation	SNP	T	TCGA-G9-7523-01A-11D-2260-08	56495519	120536625	13315270	40	8746											
TPTE2	93492	broad.mit.edu	37	chr13	20048175	20048175	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaaaattaggtcggcaaggaGgagagtgacatccagtaaga	16	6	14	5	1	0	3	0	1	0	2	2	6	1	4	1	4	0	2	1	4	5	2			TCGA-G9-7523-01A-11D-2260-08	TCGA-G9-7523-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e100b0-9027-432d-9ab6-2690e7753289	0b92342c-e2a3-4f38-9ed1-bd7f1aac35f7	g.chr13:20048175G>C	ENST00000400230.2	-	6	315	c.271C>G	c.(271-273)Ctc>Gtc	p.L91V	TPTE2_ENST00000400103.2_Intron|TPTE2_ENST00000382977.4_Missense_Mutation_p.L91V|TPTE2_ENST00000390680.2_Missense_Mutation_p.L54V|TPTE2_ENST00000382978.1_Missense_Mutation_p.L91V|TPTE2_ENST00000457266.2_Intron|TPTE2_ENST00000382975.4_Missense_Mutation_p.L91V|TPTE2_ENST00000255310.6_Missense_Mutation_p.L54V			Q6XPS3	TPTE2_HUMAN	transmembrane phosphoinositide 3-phosphatase and tensin homolog 2	91					phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	ion channel activity (GO:0005216)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)		TCGGCAAGGAGGAGAGTGACA	0.294																																						ENST00000400230.2																			0				NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						c.(271-273)Ctc>Gtc		transmembrane phosphoinositide 3-phosphatase and tensin homolog 2							65	73	70					13																	20048175		2203	4300	6503	SO:0001583	missense	93492					endoplasmic reticulum membrane|integral to membrane	ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr13:20048175G>C	AJ421032	CCDS9285.1, CCDS45013.1, CCDS45014.1	13q12.11	2012-12-10			ENSG00000132958	ENSG00000132958		"Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"	17299	protein-coding gene	gene with protein product		606791				11716755, 12717346, 15057823	Standard	NM_130785		Approved	TPIP	uc001umd.3	Q6XPS3	OTTHUMG00000016493	ENST00000400230.2:c.271C>G	13.37:g.20048175G>C	ENSP00000383089:p.Leu91Val					TPTE2_ENST00000382978.1_Missense_Mutation_p.L91V|TPTE2_ENST00000382975.4_Missense_Mutation_p.L91V|TPTE2_ENST00000255310.6_Missense_Mutation_p.L54V|TPTE2_ENST00000400103.2_Intron|TPTE2_ENST00000457266.2_Intron|TPTE2_ENST00000390680.2_Missense_Mutation_p.L54V|TPTE2_ENST00000382977.4_Missense_Mutation_p.L91V	p.L91V			Q6XPS3	TPTE2_HUMAN		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)	6	315	-		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)	91					A1A4X0|A1A4X1|A8MX64|B1AQ16|B4DWZ2|Q5VUH2|Q8WWL4|Q8WWL5	Missense_Mutation	SNP	ENST00000400230.2	37	c.271C>G	CCDS45014.1	.	.	.	.	.	.	.	.	.	.	g	0	-2.671852	0.00104	.	.	ENSG00000132958	ENST00000382978;ENST00000400230;ENST00000255310;ENST00000390680;ENST00000382977;ENST00000382975;ENST00000343548	D;D;D;D;D;D	0.97553	-4.43;-4.43;-4.43;-4.43;-4.43;-4.43	2.33	-2.98	0.05513	.	0.341290	0.24920	N	0.034543	D	0.87853	0.6282	N	0.11064	0.09	0.09310	N	1	B;B	0.12013	0.005;0.002	B;B	0.06405	0.002;0.002	T	0.79778	-0.1660	9	.	.	.	-2.0597	4.2976	0.10910	0.0:0.4631:0.2199:0.317	.	54;91	Q6XPS3-3;Q6XPS3	.;TPTE2_HUMAN	V	91;91;54;54;91;91;91	ENSP00000372438:L91V;ENSP00000383089:L91V;ENSP00000255310:L54V;ENSP00000375098:L54V;ENSP00000372437:L91V;ENSP00000372435:L91V	.	L	-	1	0	TPTE2	18946175	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.850000	0.04317	-0.793000	0.04475	-0.718000	0.03613	CTC		0.294	TPTE2-205	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_199254		3	110	0	0	0	1	0	3	110					C	20048175	G	C	20048175	3	2	187	1	0	0	0	0	1	0	0	0	16428	1000	35	5	1357	5	TPTE2	13	20048175	Missense_Mutation	SNP	G	TCGA-G9-7523-01A-11D-2260-08		20048175	95121703	41	8747											
FREM2	341640	broad.mit.edu	37	chr13	39263499	39263499	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cacagaccagttcacatttaGagtccaggataaccatgacc	14	8	7	12	0	1	3	1	1	0	2	2	4	2	4	4	1	1	1	4	1	2	4			TCGA-G9-7523-01A-11D-2260-08	TCGA-G9-7523-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e100b0-9027-432d-9ab6-2690e7753289	0b92342c-e2a3-4f38-9ed1-bd7f1aac35f7	g.chr13:39263499G>C	ENST00000280481.7	+	1	2234	c.2018G>C	c.(2017-2019)aGa>aCa	p.R673T		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	673					cell communication (GO:0007154)|homophilic cell adhesion (GO:0007156)|inner ear development (GO:0048839)|morphogenesis of an epithelium (GO:0002009)	basement membrane (GO:0005604)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		TTCACATTTAGAGTCCAGGAT	0.562																																						ENST00000280481.7																			0				NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148						c.(2017-2019)aGa>aCa		FRAS1 related extracellular matrix protein 2							82	81	82					13																	39263499		2203	4300	6503	SO:0001583	missense	341640				cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr13:39263499G>C	BX538150	CCDS31960.1	13q13.3	2004-12-15			ENSG00000150893	ENSG00000150893			25396	protein-coding gene	gene with protein product		608945				15345741	Standard	NM_207361		Approved	DKFZp686J0811	uc001uwv.3	Q5SZK8	OTTHUMG00000016759	ENST00000280481.7:c.2018G>C	13.37:g.39263499G>C	ENSP00000280481:p.Arg673Thr						p.R673T	NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)	1	2234	+		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)	673					Q4QQG1|Q5H9N8|Q5T6Q1|Q6N057|Q6ZSB4|Q7Z305|Q7Z341	Missense_Mutation	SNP	ENST00000280481.7	37	c.2018G>C	CCDS31960.1	.	.	.	.	.	.	.	.	.	.	G	8.537	0.872431	0.17322	.	.	ENSG00000150893	ENST00000280481	T	0.39056	1.1	5.97	5.08	0.68730	.	0.256786	0.43919	D	0.000509	T	0.36635	0.0974	L	0.56769	1.78	0.20821	N	0.999848	B	0.16396	0.017	B	0.13407	0.009	T	0.12682	-1.0538	10	0.19147	T	0.46	.	10.9667	0.47416	0.0695:0.1313:0.7991:0.0	.	673	Q5SZK8	FREM2_HUMAN	T	673	ENSP00000280481:R673T	ENSP00000280481:R673T	R	+	2	0	FREM2	38161499	0.241000	0.23857	0.959000	0.39883	0.994000	0.84299	2.892000	0.48625	2.837000	0.97791	0.655000	0.94253	AGA		0.562	FREM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044599.2	NM_207361		5	143	0	0	0	1	0	5	143					C	39263499	G	C	39263499	3	2	187	1	0	0	0	0	1	0	0	0	6045	942	33	5	2020	5	FREM2	13	39263499	Missense_Mutation	SNP	G	TCGA-G9-7523-01A-11D-2260-08	19215324	39263499	75906379	42	8748											
FURIN	5045	broad.mit.edu	37	chr15	91422745	91422745	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctctgcccccttagcagcCggcatcattgctctcaccct	5	10	7	19	1	3	0	2	0	2	0	4	0	3	0	5	1	4	3	5	1	1	2	rs201433527		TCGA-G9-7523-01A-11D-2260-08	TCGA-G9-7523-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e100b0-9027-432d-9ab6-2690e7753289	0b92342c-e2a3-4f38-9ed1-bd7f1aac35f7	g.chr15:91422745C>T	ENST00000268171.3	+	10	1404	c.1125C>T	c.(1123-1125)gcC>gcT	p.A375A		NM_002569.2	NP_002560.1	P09958	FURIN_HUMAN	furin (paired basic amino acid cleaving enzyme)	375	Peptidase S8.				cell proliferation (GO:0008283)|cellular protein metabolic process (GO:0044267)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of low-density lipoprotein particle receptor catabolic process (GO:0032804)|negative regulation of transforming growth factor beta1 production (GO:0032911)|nerve growth factor processing (GO:0032455)|nerve growth factor production (GO:0032902)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|peptide biosynthetic process (GO:0043043)|peptide hormone processing (GO:0016486)|peptidyl-glutamic acid carboxylation (GO:0017187)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|post-translational protein modification (GO:0043687)|protein processing (GO:0016485)|proteolysis (GO:0006508)|regulation of endopeptidase activity (GO:0052548)|regulation of protein catabolic process (GO:0042176)|secretion by cell (GO:0032940)|signal peptide processing (GO:0006465)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral protein processing (GO:0019082)|virion assembly (GO:0019068)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)|trans-Golgi network transport vesicle (GO:0030140)	endopeptidase activity (GO:0004175)|metal ion binding (GO:0046872)|nerve growth factor binding (GO:0048406)|peptidase activity (GO:0008233)|peptide binding (GO:0042277)|protease binding (GO:0002020)|serine-type endopeptidase activity (GO:0004252)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|central_nervous_system(4)|endometrium(4)|large_intestine(3)|liver(2)|lung(13)|ovary(2)|prostate(3)|skin(1)|urinary_tract(3)	36	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.189)			CCTTAGCAGCCGGCATCATTG	0.617																																						ENST00000268171.3																			0				breast(1)|central_nervous_system(4)|endometrium(4)|large_intestine(3)|liver(2)|lung(13)|ovary(2)|prostate(3)|skin(1)|urinary_tract(3)	36						c.(1123-1125)gcC>gcT		furin (paired basic amino acid cleaving enzyme)							52	52	52					15																	91422745		2198	4298	6496	SO:0001819	synonymous_variant	5045				cell proliferation|negative regulation of low-density lipoprotein particle receptor catabolic process|negative regulation of transforming growth factor-beta1 production|nerve growth factor processing|nerve growth factor production|nerve growth factor receptor signaling pathway|Notch signaling pathway|peptide biosynthetic process|peptidyl-glutamic acid carboxylation|post-translational protein modification|secretion by cell|signal peptide processing|transforming growth factor beta receptor signaling pathway|viral assembly, maturation, egress, and release	cell surface|Golgi lumen|Golgi membrane|integral to membrane|membrane raft|plasma membrane|trans-Golgi network|trans-Golgi network transport vesicle	metal ion binding|nerve growth factor binding|peptide binding|protease binding|serine-type endopeptidase activity|serine-type endopeptidase inhibitor activity	g.chr15:91422745C>T	X17094	CCDS10364.1	15q26.1	2007-01-24	2002-12-04	2002-12-06	ENSG00000140564	ENSG00000140564			8568	protein-coding gene	gene with protein product		136950	"paired basic amino acid cleaving enzyme (furin, membrane associated receptor protein)"	PCSK3, FUR, PACE		2251280, 1741956	Standard	NM_002569		Approved	SPC1	uc002bpu.1	P09958	OTTHUMG00000149831	ENST00000268171.3:c.1125C>T	15.37:g.91422745C>T							p.A375A	NM_002569.2	NP_002560.1	P09958	FURIN_HUMAN	Lung(145;0.189)		10	1404	+	Lung NSC(78;0.0771)|all_lung(78;0.137)		375					Q14336|Q6LBS3|Q9UCZ5	Silent	SNP	ENST00000268171.3	37	c.1125C>T	CCDS10364.1																																																																																				0.617	FURIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313492.1	NM_002569		17	120	0	0	0	1	0	17	120					T	91422745	C	T	91422745	2	4	187	1	0	0	0	0	0	0	0	1	6099	639	23	2		2	FURIN	15	91422745	Silent	SNP	C	TCGA-G9-7523-01A-11D-2260-08		91422745	11108647	43	8749											
CDT1	353	broad.mit.edu	37	chr16	88873818	88873818	+	IGR	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggagcgtctttgtgtccgaaCgcaagcctgcgctcagcatg	7	9	13	12	4	2	0	1	0	1	0	3	2	3	1	2	1	5	3	2	1	2	1	rs141750196		TCGA-G9-7523-01A-11D-2260-08	TCGA-G9-7523-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e100b0-9027-432d-9ab6-2690e7753289	0b92342c-e2a3-4f38-9ed1-bd7f1aac35f7	g.chr16:88873818C>T	ENST00000378364.3	-	0	947				CDT1_ENST00000301019.4_Missense_Mutation_p.R469C	NM_000485.2	NP_000476.1	P07741	APT_HUMAN	adenine phosphoribosyltransferase						adenine salvage (GO:0006168)|AMP salvage (GO:0044209)|cellular response to insulin stimulus (GO:0032869)|grooming behavior (GO:0007625)|lactation (GO:0007595)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine-containing compound salvage (GO:0043101)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	adenine binding (GO:0002055)|adenine phosphoribosyltransferase activity (GO:0003999)|AMP binding (GO:0016208)			cervix(1)|endometrium(1)|liver(1)	3				BRCA - Breast invasive adenocarcinoma(80;0.0477)	Adenine(DB00173)|Adenosine monophosphate(DB00131)	TGTGTCCGAACGCAAGCCTGC	0.662																																						ENST00000301019.4																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|lung(3)	7						c.(1405-1407)Cgc>Tgc		chromatin licensing and DNA replication factor 1		C	CYS/ARG	1,4393	2.1+/-5.4	0,1,2196	56	47	50		1405	3.5	0.9	16	dbSNP_134	50	0,8600		0,0,4300	no	missense	CDT1	NM_030928.3	180	0,1,6496	TT,TC,CC		0.0,0.0228,0.0077	probably-damaging	469/547	88873818	1,12993	2197	4300	6497	SO:0001628	intergenic_variant	81620				DNA replication|DNA replication checkpoint|M/G1 transition of mitotic cell cycle|regulation of DNA-dependent DNA replication initiation|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle	cytosol|nucleoplasm	DNA binding|protein binding	g.chr16:88873818C>T		CCDS32511.1, CCDS45546.1	16q24	2012-10-02				ENSG00000198931	2.4.2.7		626	protein-coding gene	gene with protein product		102600					Standard	NM_000485		Approved		uc002flv.3	P07741			16.37:g.88873818C>T							p.R469C	NM_030928.3	NP_112190.2	Q9H211	CDT1_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0476)	9	2024	+			469					G5E9J2|Q3KP55|Q68DF9	Missense_Mutation	SNP	ENST00000378364.3	37	c.1405C>T	CCDS32511.1	.	.	.	.	.	.	.	.	.	.	C	16.87	3.242485	0.58995	2.28E-4	0.0	ENSG00000167513	ENST00000301019	T	0.78816	-1.21	5.58	3.51	0.40186	.	0.056888	0.64402	D	0.000004	D	0.84884	0.5571	M	0.80183	2.485	0.58432	D	0.999999	D	0.89917	1.0	D	0.68039	0.955	D	0.84722	0.0740	10	0.66056	D	0.02	-25.7888	6.5325	0.22334	0.3708:0.5353:0.0:0.0939	.	469	Q9H211	CDT1_HUMAN	C	469	ENSP00000301019:R469C	ENSP00000301019:R469C	R	+	1	0	CDT1	87401319	1.000000	0.71417	0.911000	0.35937	0.001000	0.01503	5.060000	0.64312	1.360000	0.45960	-0.251000	0.11542	CGC		0.662	APRT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430000.2	NM_000485		3	92	0	0	0	1	0	3	92					T	88873818	C	T	88873818	1	4	187	0	1	0	0	0	0	0	0	0	3180	536	19	1		1	CDT1	16	88873818	IGR	SNP	C	TCGA-G9-7523-01A-11D-2260-08		88873818	1480935	44	8750											
CNTROB	116840	broad.mit.edu	37	chr17	7838456	7838456	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attggattcagagcatacccGccgcaaggtaagatgcaaac	14	7	10	10	2	1	2	1	0	0	2	1	3	1	3	2	2	4	4	2	2	4	4	rs372711381		TCGA-G9-7523-01A-11D-2260-08	TCGA-G9-7523-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e100b0-9027-432d-9ab6-2690e7753289	0b92342c-e2a3-4f38-9ed1-bd7f1aac35f7	g.chr17:7838456G>A	ENST00000563694.1	+	4	1512	c.587G>A	c.(586-588)cGc>cAc	p.R196H	CNTROB_ENST00000380262.3_Missense_Mutation_p.R196H|CNTROB_ENST00000565740.1_Missense_Mutation_p.R196H|CNTROB_ENST00000380255.3_Missense_Mutation_p.R196H	NM_053051.3	NP_444279.2	Q8N137	CNTRB_HUMAN	centrobin, centrosomal BRCA2 interacting protein	196					centriole replication (GO:0007099)|centrosome separation (GO:0051299)|cytokinesis (GO:0000910)	centriole (GO:0005814)|centrosome (GO:0005813)|cytoplasm (GO:0005737)	protein domain specific binding (GO:0019904)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)	25		Prostate(122;0.173)				GAGCATACCCGCCGCAAGGTA	0.562																																						ENST00000380262.3																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)	25						c.(586-588)cGc>cAc		centrobin, centrosomal BRCA2 interacting protein		G	HIS/ARG,HIS/ARG	0,4406		0,0,2203	57	60	59		587,587	5.3	1	17		59	1,8597		0,1,4298	no	missense,missense	CNTROB	NM_001037144.5,NM_053051.3	29,29	0,1,6501	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging	196/926,196/904	7838456	1,13003	2203	4299	6502	SO:0001583	missense	116840				centriole replication|centrosome separation|cytokinesis	centriole	protein domain specific binding	g.chr17:7838456G>A	AF331638	CCDS32557.1, CCDS11126.1	17p13.1	2006-03-15				ENSG00000170037			29616	protein-coding gene	gene with protein product	"centrobin"	611425				11984006, 16275750	Standard	NM_001037144		Approved	LIP8, PP1221	uc002gjp.3	Q8N137		ENST00000563694.1:c.587G>A	17.37:g.7838456G>A	ENSP00000456335:p.Arg196His					CNTROB_ENST00000380255.3_Missense_Mutation_p.R196H|CNTROB_ENST00000563694.1_Missense_Mutation_p.R196H|CNTROB_ENST00000565740.1_Missense_Mutation_p.R196H	p.R196H	NM_001037144.5	NP_001032221.1	Q8N137	CNTRB_HUMAN			4	1512	+		Prostate(122;0.173)	196					A6NHQ1|Q331K3|Q69YV7|Q8NCB8|Q8WXV3|Q96CQ7|Q9C060	Missense_Mutation	SNP	ENST00000563694.1	37	c.587G>A	CCDS11126.1	.	.	.	.	.	.	.	.	.	.	G	30	5.053845	0.93793	0.0	1.16E-4	ENSG00000170037	ENST00000380262;ENST00000380255	T;T	0.59772	1.1;0.24	5.35	5.35	0.76521	.	0.000000	0.64402	D	0.000006	T	0.67411	0.2890	L	0.29908	0.895	0.50313	D	0.999861	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.85130	0.997;0.997;0.994	T	0.70461	-0.4865	10	0.66056	D	0.02	-11.2137	17.8229	0.88655	0.0:0.0:1.0:0.0	.	196;196;196	Q8N137-3;Q8N137;Q8N137-2	.;CNTRB_HUMAN;.	H	196	ENSP00000369614:R196H;ENSP00000369605:R196H	ENSP00000369605:R196H	R	+	2	0	CNTROB	7779181	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	5.655000	0.67981	2.508000	0.84585	0.563000	0.77884	CGC		0.562	CNTROB-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000421372.1	NM_053051		3	58	0	0	0	1	0	3	58					A	7838456	G	A	7838456	3	1	187	1	0	0	0	0	1	0	0	0	3651	1087	38	1	601	1	CNTROB	17	7838456	Missense_Mutation	SNP	G	TCGA-G9-7523-01A-11D-2260-08		7838456	73356754	45	8751											
UBB	7314	broad.mit.edu	37	chr17	16285497	16285497	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggcaagaccatcaccctggaAgtggagcccagtgacaccat	12	5	11	13	0	1	2	1	1	0	1	1	4	1	4	4	3	1	1	4	3	2	0			TCGA-G9-7523-01A-11D-2260-08	TCGA-G9-7523-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e100b0-9027-432d-9ab6-2690e7753289	0b92342c-e2a3-4f38-9ed1-bd7f1aac35f7	g.chr17:16285497A>G	ENST00000395837.1	+	2	457	c.276A>G	c.(274-276)gaA>gaG	p.E92E	UBB_ENST00000395839.1_Silent_p.E92E|UBB_ENST00000535788.1_Intron|UBB_ENST00000302182.3_Silent_p.E92E|RP11-138I1.4_ENST00000583934.1_RNA|UBB_ENST00000578649.1_Intron	NM_001281718.1|NM_001281720.1	NP_001268647.1|NP_001268649.1	P0CG47	UBB_HUMAN	ubiquitin B	92	Ubiquitin-like 2. {ECO:0000255|PROSITE- ProRule:PRU00214}.		GMQIFVKTLTGKTITLEVEPSDTIENVKAKIQDKEGIPPDQ QRLIFAGKQLEDGRTLSDYNIQKESTLHLVLRLRGGMQIFV KTLTGKTITLEVEPSDTIENVKAKIQDKEGIPPDQQRLIFA GKQLEDGRTLSDYNIQKESTLHLVLRLRGGC -> YADLRE DPDRQDHHPGSGAQ (in UBB(+1); loss of polyubiquitination; impairs the ubiquitin-proteasome pathway; refractory to disassembly by DUBs; slow degradation by UCHL3).		activation of MAPK activity (GO:0000187)|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|carbohydrate metabolic process (GO:0005975)|cellular response to hypoxia (GO:0071456)|cytokine-mediated signaling pathway (GO:0019221)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|endosomal transport (GO:0016197)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|intracellular transport of virus (GO:0075733)|ion transmembrane transport (GO:0034220)|JNK cascade (GO:0007254)|membrane organization (GO:0061024)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of type I interferon production (GO:0032480)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of apoptotic process (GO:0043065)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of type I interferon production (GO:0032479)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|stress-activated MAPK cascade (GO:0051403)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|transmembrane transport (GO:0055085)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral protein processing (GO:0019082)|virion assembly (GO:0019068)	cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)		p.E92E(2)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16				UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)		TCACCCTGGAAGTGGAGCCCA	0.557																																					Melanoma(163;1126 3406 34901)	ENST00000302182.3																			2	Substitution - coding silent(2)	p.E92E(2)	endometrium(1)|central_nervous_system(1)	breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						c.(274-276)gaA>gaG		ubiquitin B																																				SO:0001819	synonymous_variant	7314				activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|viral reproduction	cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane	protein binding	g.chr17:16285497A>G		CCDS11177.1	17p12-p11.2	2010-11-25			ENSG00000170315	ENSG00000170315			12463	protein-coding gene	gene with protein product	"polyubiquitin B"	191339				2154095	Standard	NM_018955		Approved	MGC8385, FLJ25987	uc002gpx.3	P0CG47	OTTHUMG00000058987	ENST00000395837.1:c.276A>G	17.37:g.16285497A>G						UBB_ENST00000395837.1_Silent_p.E92E|UBB_ENST00000395839.1_Silent_p.E92E|RP11-138I1.4_ENST00000583934.1_RNA|UBB_ENST00000535788.1_Intron|UBB_ENST00000578649.1_Intron	p.E92E	NM_018955.2	NP_061828.1	P0CG47	UBB_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)	2	668	+			92			Ubiquitin-like 2.		P02248|P02249|P02250|P62988|Q29120|Q6LBL4|Q6LDU5|Q8WYN8|Q91887|Q91888|Q9BWD6|Q9BX98|Q9UEF2|Q9UEG1|Q9UEK8|Q9UPK7	Silent	SNP	ENST00000395837.1	37	c.276A>G	CCDS11177.1																																																																																				0.557	UBB-002	NOVEL	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000130459.1	NM_018955		3	95	0	0	0	1	0	3	95					G	16285497	A	G	16285497	2	3	187	1	0	0	0	0	0	0	0	1	16838	69	3	4		4	UBB	17	16285497	Silent	SNP	A	TCGA-G9-7523-01A-11D-2260-08	8447041	16285497	64909713	46	8752											
CCL4L1	388372	broad.mit.edu	37	chr17	34641448	34641448	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtctgctccttgttctacAgattccaaaccaaaagaggc	11	11	7	12	0	2	2	0	0	2	2	4	2	4	2	3	1	3	2	3	1	4	4	rs184899362		TCGA-G9-7523-01A-11D-2260-08	TCGA-G9-7523-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e100b0-9027-432d-9ab6-2690e7753289	0b92342c-e2a3-4f38-9ed1-bd7f1aac35f7	g.chr17:34641448A>G	ENST00000394465.2	+	3	508		c.e3-1		CCL4L2_ENST00000482104.1_3'UTR|TBC1D3C_ENST00000308078.7_Intron|CCL4L2_ENST00000339270.6_Splice_Site|TBC1D3H_ENST00000400684.4_Intron|TBC1D3H_ENST00000535446.1_Intron|TBC1D3C_ENST00000451448.2_Intron			Q8NHW4	CC4L_HUMAN	chemokine (C-C motif) ligand 4-like 2						cell chemotaxis (GO:0060326)|immune response (GO:0006955)|inflammatory response (GO:0006954)	extracellular space (GO:0005615)		p.?(1)		endometrium(1)	1		Breast(25;0.102)|Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		CTTGTTCTACAGATTCCAAAC	0.522																																						ENST00000394465.2																			1	Unknown(1)	p.?(1)	endometrium(1)	endometrium(1)	1						c.e3-1		chemokine (C-C motif) ligand 4-like 2							219	152	175					17																	34641448		2159	4154	6313	SO:0001630	splice_region_variant	388372				chemotaxis|immune response|inflammatory response	extracellular space	chemokine activity	g.chr17:34641448A>G			17q12	2005-08-09			ENSG00000197262			"Chemokine ligands"	24066	protein-coding gene	gene with protein product		603782				15028295	Standard	NM_001291468		Approved		uc010cuj.3	Q8NHW4	OTTHUMG00000133066	ENST00000394465.2:c.192-1A>G	17.37:g.34641448A>G						TBC1D3C_ENST00000308078.7_Intron|TBC1D3H_ENST00000535446.1_Intron|TBC1D3C_ENST00000451448.2_Intron|CCL4L2_ENST00000482104.1_3'UTR|CCL4L2_ENST00000339270.6_Splice_Site|TBC1D3H_ENST00000400684.4_Intron				Q8NHW4	CC4L_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)	3	508	+		Breast(25;0.102)|Ovarian(249;0.17)						B2RUZ3|B7ZMA8|Q50EM1|Q50EM2|Q50EM3|Q50EM4|Q50EM5|Q50EM6|Q50EM7|Q50EM8|Q569J2|Q6NSB0	Splice_Site	SNP	ENST00000394465.2	37		CCDS11311.1	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	N	11.83	1.756201	0.31137	.	.	ENSG00000197262	ENST00000394465;ENST00000339270	.	.	.	3.1	3.1	0.35709	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.8193	0.29278	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CCL4L2	31665561	1.000000	0.71417	0.994000	0.49952	0.682000	0.39822	4.719000	0.61937	1.074000	0.40909	0.344000	0.21773	.		0.522	CCL4L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256699.1	NM_207007	Intron	3	137	0	0	0	1	0	3	137					G	34641448	A	G	34641448	5	3	187	1	0	0	0	0	0	0	1	0	2903	202	7	4	491	4	CCL4L1	17	34641448	Splice_Site	SNP	A	TCGA-G9-7523-01A-11D-2260-08	18355951	34641448	46553762	47	8753											
MED24	9862	broad.mit.edu	37	chr17	38179499	38179499	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaccttggcaaaaatgtccGtcagcacctctttgatgggc	9	10	10	12	1	2	1	1	1	1	0	3	1	3	1	3	2	1	3	3	2	2	2	rs145215690		TCGA-G9-7523-01A-11D-2260-08	TCGA-G9-7523-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e100b0-9027-432d-9ab6-2690e7753289	0b92342c-e2a3-4f38-9ed1-bd7f1aac35f7	g.chr17:38179499G>A	ENST00000394128.2	-	20	2216	c.2135C>T	c.(2134-2136)aCg>aTg	p.T712M	MED24_ENST00000501516.3_Missense_Mutation_p.T731M|MED24_ENST00000394126.1_Missense_Mutation_p.T737M|MED24_ENST00000394127.2_Missense_Mutation_p.T699M|MED24_ENST00000356271.3_Missense_Mutation_p.T699M	NM_014815.3	NP_055630.2	O75448	MED24_HUMAN	mediator complex subunit 24	712					androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of transcription, DNA-templated (GO:0045893)|protein heterooligomerization (GO:0051291)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	histone acetyltransferase activity (GO:0004402)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|receptor activity (GO:0004872)|RNA polymerase II transcription cofactor activity (GO:0001104)|thyroid hormone receptor binding (GO:0046966)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)	p.T712M(1)		autonomic_ganglia(1)|breast(2)|endometrium(9)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	41	Colorectal(19;0.000442)					AAAAATGTCCGTCAGCACCTC	0.602																																						ENST00000394126.1																			1	Substitution - Missense(1)	p.T712M(1)	large_intestine(1)	autonomic_ganglia(1)|breast(2)|endometrium(9)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	41						c.(2209-2211)aCg>aTg		mediator complex subunit 24		G	MET/THR,MET/THR	1,4405	2.1+/-5.4	0,1,2202	65	60	62		2096,2135	2.5	0.9	17	dbSNP_134	62	0,8600		0,0,4300	no	missense,missense	MED24	NM_001079518.1,NM_014815.3	81,81	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	possibly-damaging,possibly-damaging	699/977,712/990	38179499	1,13005	2203	4300	6503	SO:0001583	missense	9862				androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	g.chr17:38179499G>A	AF055995	CCDS11359.1, CCDS42315.1	17q21.2	2007-07-30	2007-07-30	2007-07-30	ENSG00000008838	ENSG00000008838			22963	protein-coding gene	gene with protein product		607000	"thyroid hormone receptor associated protein 4", "cofactor required for Sp1 transcriptional activation, subunit 4, 100kDa"	THRAP4, CRSP4			Standard	NM_001079518		Approved	TRAP100, KIAA0130, DRIP100, CRSP100	uc002htt.3	O75448	OTTHUMG00000133329	ENST00000394128.2:c.2135C>T	17.37:g.38179499G>A	ENSP00000377686:p.Thr712Met					MED24_ENST00000501516.3_Missense_Mutation_p.T731M|MED24_ENST00000394128.2_Missense_Mutation_p.T712M|MED24_ENST00000394127.2_Missense_Mutation_p.T699M|MED24_ENST00000356271.3_Missense_Mutation_p.T699M	p.T737M			O75448	MED24_HUMAN			19	2628	-	Colorectal(19;0.000442)		712					A8K4S5|B3KMR9|Q14143|Q9NNY5	Missense_Mutation	SNP	ENST00000394128.2	37	c.2210C>T	CCDS11359.1	.	.	.	.	.	.	.	.	.	.	G	10.08	1.252321	0.22880	2.27E-4	0.0	ENSG00000008838	ENST00000394126;ENST00000356271;ENST00000394128;ENST00000535071;ENST00000394127;ENST00000536318;ENST00000535508;ENST00000501516;ENST00000431269	T;T;T	0.44881	0.91;0.91;0.91	4.43	2.45	0.29901	Mediator complex, subunit Med24, N-terminal (1);	0.173450	0.49916	D	0.000123	T	0.24198	0.0586	L	0.40543	1.245	0.30146	N	0.803478	P;B;P;B;B;B	0.41624	0.757;0.109;0.676;0.132;0.16;0.221	B;B;B;B;B;B	0.30029	0.11;0.006;0.063;0.011;0.018;0.016	T	0.23013	-1.0200	10	0.51188	T	0.08	-8.8074	5.0149	0.14331	0.2512:0.1532:0.5956:0.0	.	662;622;622;699;712;654	F5H5K2;F8W9R9;B4E1A5;O75448-2;O75448;F5H0K1	.;.;.;.;MED24_HUMAN;.	M	712;712;712;662;699;654;273;183;622	ENSP00000377686:T712M;ENSP00000443344:T662M;ENSP00000377685:T699M	ENSP00000348610:T712M	T	-	2	0	MED24	35433025	0.971000	0.33674	0.904000	0.35570	0.997000	0.91878	1.967000	0.40491	0.500000	0.27991	0.561000	0.74099	ACG		0.602	MED24-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257147.2	NM_014815		25	75	0	0	0	1	0	25	75					A	38179499	G	A	38179499	3	1	187	1	0	0	0	0	1	0	0	0	9442	1145	40	1	862	1	MED24	17	38179499	Missense_Mutation	SNP	G	TCGA-G9-7523-01A-11D-2260-08	3538051	38179499	43015711	48	8754											
CDC6	990	broad.mit.edu	37	chr17	38447897	38447897	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctggaaaaactgcctgcttaAgccggattctgcaagacctc	11	9	9	12	1	1	1	0	0	1	1	2	3	1	3	3	2	5	2	3	2	4	2			TCGA-G9-7523-01A-11D-2260-08	TCGA-G9-7523-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e100b0-9027-432d-9ab6-2690e7753289	0b92342c-e2a3-4f38-9ed1-bd7f1aac35f7	g.chr17:38447897A>G	ENST00000209728.4	+	4	1108	c.637A>G	c.(637-639)Agc>Ggc	p.S213G		NM_001254.3	NP_001245.1	Q99741	CDC6_HUMAN	cell division cycle 6	213					DNA replication (GO:0006260)|DNA replication checkpoint (GO:0000076)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|positive regulation of chromosome segregation (GO:0051984)|positive regulation of cytokinesis (GO:0032467)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of mitotic metaphase/anaphase transition (GO:0030071)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|traversing start control point of mitotic cell cycle (GO:0007089)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle midzone (GO:0051233)|spindle pole (GO:0000922)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|kinase binding (GO:0019900)|nucleotide binding (GO:0000166)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(1)|stomach(2)|urinary_tract(1)	21						TGCCTGCTTAAGCCGGATTCT	0.408																																						ENST00000209728.4																			0				breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(1)|stomach(2)|urinary_tract(1)	21						c.(637-639)Agc>Ggc		cell division cycle 6							101	109	106					17																	38447897		2203	4300	6503	SO:0001583	missense	990				cell division|DNA replication|DNA replication checkpoint|M/G1 transition of mitotic cell cycle|mitosis|negative regulation of cell proliferation|negative regulation of DNA replication|positive regulation of cell cycle cytokinesis|positive regulation of chromosome segregation|regulation of cyclin-dependent protein kinase activity|regulation of mitotic anaphase|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|traversing start control point of mitotic cell cycle	cytosol|nucleoplasm|spindle midzone|spindle pole	ATP binding|kinase binding|nucleoside-triphosphatase activity	g.chr17:38447897A>G	U77949	CCDS11365.1	17q21.3	2013-01-17	2013-01-17		ENSG00000094804	ENSG00000094804			1744	protein-coding gene	gene with protein product		602627	"CDC6 (cell division cycle 6, S. cerevisiae) homolog", "CDC6 cell division cycle 6 homolog (S. cerevisiae)", "cell division cycle 6 homolog (S. cerevisiae)"	CDC18L		8990175, 9566895	Standard	NM_001254		Approved		uc002huj.1	Q99741	OTTHUMG00000133324	ENST00000209728.4:c.637A>G	17.37:g.38447897A>G	ENSP00000209728:p.Ser213Gly						p.S213G	NM_001254.3	NP_001245.1	Q99741	CDC6_HUMAN			4	1108	+			213					Q8TB30	Missense_Mutation	SNP	ENST00000209728.4	37	c.637A>G	CCDS11365.1	.	.	.	.	.	.	.	.	.	.	A	17.60	3.430069	0.62844	.	.	ENSG00000094804	ENST00000209728	T	0.56444	0.46	6.16	5.09	0.68999	ATPase, AAA-type, core (1);ATPase, AAA+ type, core (1);	0.164077	0.64402	N	0.000003	T	0.46014	0.1371	L	0.32530	0.975	0.38326	D	0.943656	B	0.29270	0.24	B	0.37550	0.253	T	0.45877	-0.9231	10	0.33940	T	0.23	-14.5241	11.5807	0.50889	0.9297:0.0:0.0703:0.0	.	213	Q99741	CDC6_HUMAN	G	213	ENSP00000209728:S213G	ENSP00000209728:S213G	S	+	1	0	CDC6	35701423	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	7.661000	0.83786	1.144000	0.42321	-0.297000	0.09499	AGC		0.408	CDC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257129.1			9	102	0	0	0	1	0	9	102					G	38447897	A	G	38447897	3	3	187	1	0	0	0	0	1	0	0	0	3083	72	3	4	647	4	CDC6	17	38447897	Missense_Mutation	SNP	A	TCGA-G9-7523-01A-11D-2260-08	268398	38447897	42747313	49	8755											
CPAMD8	27151	broad.mit.edu	37	chr19	17068665	17068665	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aaagaaatcttaatgtacctGatgttgagacaatgccaaat	17	11	7	6	0	1	3	0	2	1	2	1	4	1	3	2	0	2	2	2	0	6	3			TCGA-G9-7523-01A-11D-2260-08	TCGA-G9-7523-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e100b0-9027-432d-9ab6-2690e7753289	0b92342c-e2a3-4f38-9ed1-bd7f1aac35f7	g.chr19:17068665G>C	ENST00000443236.1	-	19	2446	c.2415C>G	c.(2413-2415)atC>atG	p.I805M	CPAMD8_ENST00000388925.4_3'UTR	NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain containing 8	758						extracellular space (GO:0005615)|plasma membrane (GO:0005886)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						TAATGTACCTGATGTTGAGAC	0.438																																						ENST00000443236.1																			0				breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						c.(2413-2415)atC>atG		C3 and PZP-like, alpha-2-macroglobulin domain containing 8							240	226	231					19																	17068665		1962	4153	6115	SO:0001583	missense	27151					extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity	g.chr19:17068665G>C	AY101765	CCDS42519.1	19p13.12	2008-02-05			ENSG00000160111	ENSG00000160111			23228	protein-coding gene	gene with protein product		608841				10574462	Standard	NM_015692		Approved	KIAA1283, VIP, K-CAP	uc002nfb.3	Q8IZJ3	OTTHUMG00000133549	ENST00000443236.1:c.2415C>G	19.37:g.17068665G>C	ENSP00000402505:p.Ile805Met					CPAMD8_ENST00000388925.4_3'UTR	p.I805M	NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN			19	2446	-			758					Q8NC09|Q9ULD7	Missense_Mutation	SNP	ENST00000443236.1	37	c.2415C>G	CCDS42519.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.97|16.97	3.269164|3.269164	0.59540|0.59540	.|.	.|.	ENSG00000160111|ENSG00000160111	ENST00000291440|ENST00000443236	.|.	.|.	.|.	3.34|3.34	3.34|3.34	0.38264|0.38264	Alpha-2-macroglobulin (1);|.	0.320745|.	0.23830|.	U|.	0.044152|.	T|.	0.54143|.	0.1840|.	L|L	0.41124|0.41124	1.26|1.26	0.80722|0.80722	D|D	1|1	D|.	0.60575|.	0.988|.	P|.	0.62298|.	0.9|.	T|.	0.49542|.	-0.8929|.	9|.	0.72032|.	D|.	0.01|.	.|.	10.1596|10.1596	0.42844|0.42844	0.0:0.0:0.8004:0.1996|0.0:0.0:0.8004:0.1996	.|.	758|.	Q8IZJ3|.	CPMD8_HUMAN|.	M|X	805|816	.|.	ENSP00000291440:I805M|.	I|S	-|-	3|2	3|0	CPAMD8|CPAMD8	16929665|16929665	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.748000|0.748000	0.42578|0.42578	5.550000|5.550000	0.67268|0.67268	1.440000|1.440000	0.47531|0.47531	0.591000|0.591000	0.81541|0.81541	ATC|TCA		0.438	CPAMD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257531.2	NM_015692		5	345	0	0	0	1	0	5	345					C	17068665	G	C	17068665	3	2	187	1	0	0	0	0	1	0	0	0	3795	1280	45	5	3479	5	CPAMD8	19	17068665	Missense_Mutation	SNP	G	TCGA-G9-7523-01A-11D-2260-08		17068665	42060318	50	8756											
DPY19L3	147991	broad.mit.edu	37	chr19	32954298	32954298	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tacaaatcaacaatccgtggGtaaaatggaaaaaggcacag	19	6	9	7	1	1	0	1	0	0	0	2	1	2	1	1	3	2	2	1	3	8	2			TCGA-G9-7523-01A-11D-2260-08	TCGA-G9-7523-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e100b0-9027-432d-9ab6-2690e7753289	0b92342c-e2a3-4f38-9ed1-bd7f1aac35f7	g.chr19:32954298G>A	ENST00000342179.5	+	13	1564	c.1349G>A	c.(1348-1350)gGt>gAt	p.G450D	DPY19L3_ENST00000590651.1_3'UTR|DPY19L3_ENST00000586987.1_Missense_Mutation_p.G450D|DPY19L3_ENST00000392250.2_Missense_Mutation_p.G450D	NM_207325.2	NP_997208.2	Q6ZPD9	D19L3_HUMAN	dpy-19-like 3 (C. elegans)	450						integral component of membrane (GO:0016021)	transferase activity, transferring glycosyl groups (GO:0016757)			breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(4)|pancreas(1)	32	Esophageal squamous(110;0.162)					CAATCCGTGGGTAAAATGGAA	0.338																																						ENST00000342179.5																			0				breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(4)|pancreas(1)	32						c.(1348-1350)gGt>gAt		dpy-19-like 3 (C. elegans)							141	122	128					19																	32954298		2203	4300	6503	SO:0001583	missense	147991					integral to membrane		g.chr19:32954298G>A		CCDS12422.1	19q13.11	2008-02-05				ENSG00000178904			27120	protein-coding gene	gene with protein product		613894					Standard	NM_207325		Approved		uc002ntg.3	Q6ZPD9		ENST00000342179.5:c.1349G>A	19.37:g.32954298G>A	ENSP00000344937:p.Gly450Asp					DPY19L3_ENST00000392250.2_Missense_Mutation_p.G450D|DPY19L3_ENST00000590651.1_3'UTR|DPY19L3_ENST00000586987.1_Missense_Mutation_p.G450D	p.G450D	NM_207325.2	NP_997208.2	Q6ZPD9	D19L3_HUMAN			13	1564	+	Esophageal squamous(110;0.162)		450					Q68DC7|Q6ZTB7|Q6ZTS2	Missense_Mutation	SNP	ENST00000342179.5	37	c.1349G>A	CCDS12422.1	.	.	.	.	.	.	.	.	.	.	G	0.139	-1.104361	0.01828	.	.	ENSG00000178904	ENST00000392250;ENST00000319326;ENST00000342179	T;T	0.53206	0.63;0.63	5.04	-4.26	0.03755	.	0.972531	0.08542	N	0.930392	T	0.25568	0.0622	N	0.12471	0.22	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.33904	-0.9850	10	0.11794	T	0.64	3.9387	13.3145	0.60399	0.8334:0.0:0.1666:0.0	.	450	Q6ZPD9	D19L3_HUMAN	D	450	ENSP00000376081:G450D;ENSP00000344937:G450D	ENSP00000315672:G450D	G	+	2	0	DPY19L3	37646138	0.001000	0.12720	0.000000	0.03702	0.068000	0.16541	0.592000	0.23984	-0.499000	0.06623	-0.806000	0.03193	GGT		0.338	DPY19L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450311.1	NM_207325		3	110	0	0	0	1	0	3	110					A	32954298	G	A	32954298	3	1	187	1	0	0	0	0	1	0	0	0	4742	1261	44	3	1395	3	DPY19L3	19	32954298	Missense_Mutation	SNP	G	TCGA-G9-7523-01A-11D-2260-08	15885633	32954298	26174685	51	8757											
ATP9A	10079	broad.mit.edu	37	chr20	50234090	50234090	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctgacgtcattgcctccgTcccctgcgagccacacagac	7	8	9	17	3	1	2	1	1	0	1	3	3	3	2	5	0	4	1	5	0	0	1			TCGA-G9-7523-01A-11D-2260-08	TCGA-G9-7523-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e100b0-9027-432d-9ab6-2690e7753289	0b92342c-e2a3-4f38-9ed1-bd7f1aac35f7	g.chr20:50234090T>C	ENST00000338821.5	-	22	2618	c.2354A>G	c.(2353-2355)gAc>gGc	p.D785G	ATP9A_ENST00000402822.1_Missense_Mutation_p.D664G|ATP9A_ENST00000311637.5_Missense_Mutation_p.D649G	NM_006045.1	NP_006036.1	O75110	ATP9A_HUMAN	ATPase, class II, type 9A	785					phospholipid translocation (GO:0045332)	early endosome (GO:0005769)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(10)|lung(18)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						ATTGCCTCCGTCCCCTGCGAG	0.517																																						ENST00000338821.5																			0				breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(10)|lung(18)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						c.(2353-2355)gAc>gGc		ATPase, class II, type 9A							101	65	77					20																	50234090		2203	4300	6503	SO:0001583	missense	10079				ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr20:50234090T>C	AB014511	CCDS33489.1	20q13.2	2010-04-20	2007-09-19		ENSG00000054793	ENSG00000054793		"ATPases / P-type"	13540	protein-coding gene	gene with protein product		609126	"ATPase, Class II, type 9A"			9734811, 11015572	Standard	NM_006045		Approved	KIAA0611, ATPIIA	uc002xwg.1	O75110	OTTHUMG00000032751	ENST00000338821.5:c.2354A>G	20.37:g.50234090T>C	ENSP00000342481:p.Asp785Gly					ATP9A_ENST00000311637.5_Missense_Mutation_p.D649G|ATP9A_ENST00000402822.1_Missense_Mutation_p.D664G	p.D785G	NM_006045.1	NP_006036.1	O75110	ATP9A_HUMAN			22	2618	-			785					E1P5Y3|E1P5Y4|Q5TFW5|Q5TFW6|Q5TFW9|Q6ZMF3|Q9NQK6|Q9NQK7	Missense_Mutation	SNP	ENST00000338821.5	37	c.2354A>G	CCDS33489.1	.	.	.	.	.	.	.	.	.	.	T	22.3	4.271140	0.80469	.	.	ENSG00000054793	ENST00000311637;ENST00000338821;ENST00000402822	D;D;D	0.97831	-4.56;-4.56;-4.56	5.15	5.15	0.70609	HAD-like domain (2);	0.000000	0.85682	D	0.000000	D	0.99360	0.9775	H	0.99379	4.54	0.80722	D	1	D;D	0.89917	0.996;1.0	D;D	0.97110	0.981;1.0	D	0.98175	1.0454	10	0.87932	D	0	-33.5399	14.9532	0.71091	0.0:0.0:0.0:1.0	.	664;785	O75110-2;O75110	.;ATP9A_HUMAN	G	649;785;664	ENSP00000309086:D649G;ENSP00000342481:D785G;ENSP00000385875:D664G	ENSP00000309086:D649G	D	-	2	0	ATP9A	49667497	1.000000	0.71417	0.614000	0.29051	0.619000	0.37552	7.584000	0.82572	1.923000	0.55706	0.418000	0.28097	GAC		0.517	ATP9A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106494.1	NM_006045		3	27	0	0	0	1	0	3	27					C	50234090	T	C	50234090	3	2	187	1	0	0	0	0	1	0	0	0	1198	1667	58	4	817	4	ATP9A	20	50234090	Missense_Mutation	SNP	T	TCGA-G9-7523-01A-11D-2260-08		50234090	12791430	52	8758											
ADAMTS5	11096	broad.mit.edu	37	chr21	28327146	28327146	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagaacatatggtcccaacGtctgccattcccagggtgtc	9	9	11	12	1	1	1	0	0	1	1	4	2	3	1	3	3	3	0	3	3	3	2			TCGA-G9-7523-01A-11D-2260-08	TCGA-G9-7523-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e100b0-9027-432d-9ab6-2690e7753289	0b92342c-e2a3-4f38-9ed1-bd7f1aac35f7	g.chr21:28327146G>A	ENST00000284987.5	-	2	1270	c.1149C>T	c.(1147-1149)gaC>gaT	p.D383D	MIR4759_ENST00000584048.1_RNA	NM_007038.3	NP_008969.2	Q9UNA0	ATS5_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 5	383	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				defense response to bacterium (GO:0042742)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|proteolysis (GO:0006508)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	72						TGGTCCCAACGTCTGCCATTC	0.507																																					Esophageal Squamous(53;683 1080 10100 14424 45938)	ENST00000284987.5																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	72						c.(1147-1149)gaC>gaT		ADAM metallopeptidase with thrombospondin type 1 motif, 5							91	82	85					21																	28327146		2203	4300	6503	SO:0001819	synonymous_variant	11096				proteolysis	proteinaceous extracellular matrix	integrin binding|metalloendopeptidase activity|zinc ion binding	g.chr21:28327146G>A	AF142099	CCDS13579.1	21q21.3	2008-07-31	2008-07-31		ENSG00000154736	ENSG00000154736		"ADAM metallopeptidases with thrombospondin type 1 motif"	221	protein-coding gene	gene with protein product	"aggrecanase-2"	605007	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 5 (aggrecanase-2)"			10438522	Standard	NM_007038		Approved	ADMP-2, ADAMTS11	uc002ymg.3	Q9UNA0	OTTHUMG00000078686	ENST00000284987.5:c.1149C>T	21.37:g.28327146G>A							p.D383D	NM_007038.3	NP_008969.2	Q9UNA0	ATS5_HUMAN			2	1270	-			383			Peptidase M12B.		Q52LV4|Q9UKP2	Silent	SNP	ENST00000284987.5	37	c.1149C>T	CCDS13579.1																																																																																				0.507	ADAMTS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171648.1			8	66	0	0	0	1	0	8	66					A	28327146	G	A	28327146	2	1	187	1	0	0	0	0	0	0	0	1	269	1136	40	1		1	ADAMTS5	21	28327146	Silent	SNP	G	TCGA-G9-7523-01A-11D-2260-08		28327146	19802749	53	8759											
MED15	51586	broad.mit.edu	37	chr22	20918916	20918918	+	In_Frame_Del	DEL	CAG	CAG	-																															tgcagcagcagcagcagctcCagcagcagcagcagcagcag																								rs374794651		TCGA-G9-7523-01A-11D-2260-08	TCGA-G9-7523-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e100b0-9027-432d-9ab6-2690e7753289	0b92342c-e2a3-4f38-9ed1-bd7f1aac35f7	g.chr22:20918916_20918918delCAG	ENST00000263205.7	+	6	700_702	c.631_633delCAG	c.(631-633)cagdel	p.Q218del	MED15_ENST00000542773.1_In_Frame_Del_p.Q23del|MED15_ENST00000292733.7_In_Frame_Del_p.Q218del|MED15_ENST00000406969.1_In_Frame_Del_p.Q192del|MED15_ENST00000425759.2_In_Frame_Del_p.Q107del|MED15_ENST00000541476.1_In_Frame_Del_p.Q192del|MED15_ENST00000382974.2_In_Frame_Del_p.Q147del	NM_001003891.1	NP_001003891.1	Q96RN5	MED15_HUMAN	mediator complex subunit 15	218	Poly-Gln.			Missing (in Ref. 4; CAG30423). {ECO:0000305}.	gene expression (GO:0010467)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	RNA polymerase II transcription cofactor activity (GO:0001104)			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	25	all_cancers(11;2.07e-24)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)|Epithelial(17;0.209)			gcagcagctccagcagcagcagc	0.567											OREG0026319	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000263205.7																			0				central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	25						c.(631-633)del		mediator complex subunit 15																																				SO:0001651	inframe_deletion	51586				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|mediator complex	protein binding	g.chr22:20918916_20918918delCAG	AF056191	CCDS13781.1, CCDS33602.1, CCDS74824.1	22q11.2	2007-07-30	2007-07-30	2007-07-30	ENSG00000099917	ENSG00000099917			14248	protein-coding gene	gene with protein product		607372	"trinucleotide repeat containing 7", "PC2 (positive cofactor 2, multiprotein complex) glutamine/Q-rich-associated protein"	TNRC7, PCQAP		11024300, 11414760, 15175163	Standard	XM_005261632		Approved	TIG-1, CAG7A, Arc105	uc002zsp.3	Q96RN5	OTTHUMG00000150810	ENST00000263205.7:c.631_633delCAG	22.37:g.20918925_20918927delCAG	ENSP00000263205:p.Gln218del		OREG0026319	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	744	MED15_ENST00000425759.2_In_Frame_Del_p.Q107del|MED15_ENST00000406969.1_In_Frame_Del_p.Q192del|MED15_ENST00000541476.1_In_Frame_Del_p.Q192del|MED15_ENST00000542773.1_In_Frame_Del_p.Q23del|MED15_ENST00000382974.2_In_Frame_Del_p.Q147del|MED15_ENST00000292733.7_In_Frame_Del_p.Q218del	p.Q218del	NM_001003891.1	NP_001003891.1	Q96RN5	MED15_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)|Epithelial(17;0.209)		6	700_702	+	all_cancers(11;2.07e-24)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	218	Missing (in Ref. 4; CAG30423).		Poly-Gln.		D3DX31|D3DX32|O15413|Q6IC31|Q8NF16|Q96CT0|Q96IH7|Q9P1T3	In_Frame_Del	DEL	ENST00000263205.7	37	c.631_633delCAG	CCDS33602.1																																																																																				0.567	MED15-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000320177.2	NM_015889		8	24						8	24	---	---	---	---	-	20918918	CAG	-	20918916	7	5	187	1	0	1	0	1	0	0	0	0	9433	595	21	0	653	0	MED15	22	20918916	In_Frame_Del	DEL	CAG	TCGA-G9-7523-01A-11D-2260-08		20918916	30385650	54	8760											
RERE	473	broad.mit.edu	37	chr1	8418294	8418294	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gctggtggaggtggaggtggGagtgaatgtgagagtgctgg	7	9	23	2	0	0	2	0	2	0	1	0	6	0	5	0	7	1	2	0	7	1	0			TCGA-G9-7525-01A-31D-2260-08	TCGA-G9-7525-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e92edf41-954e-46d6-b1ec-63e2d070f16f	476829e1-ad0a-4621-9ec5-7e20e881c540	g.chr1:8418294G>A	ENST00000337907.3	-	21	4935	c.4301C>T	c.(4300-4302)tCc>tTc	p.S1434F	RERE_ENST00000377464.1_Missense_Mutation_p.S1166F|RERE_ENST00000400907.2_Intron|RERE_ENST00000476556.1_Missense_Mutation_p.S880F|RERE_ENST00000400908.2_Missense_Mutation_p.S1434F	NM_012102.3	NP_036234.3	Q9P2R6	RERE_HUMAN	arginine-glutamic acid dipeptide (RE) repeats	1434	His-rich.				chromatin remodeling (GO:0006338)|multicellular organismal development (GO:0007275)|NLS-bearing protein import into nucleus (GO:0006607)|transcription, DNA-templated (GO:0006351)	histone deacetylase complex (GO:0000118)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|poly-glutamine tract binding (GO:0008267)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)		gtggaggtgggagtgaatgtg	0.642																																						ENST00000337907.3																			0				central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						c.(4300-4302)tCc>tTc		arginine-glutamic acid dipeptide (RE) repeats							133	109	117					1																	8418294		2203	4300	6503	SO:0001583	missense	473				multicellular organismal development|NLS-bearing substrate import into nucleus	mitochondrion	poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr1:8418294G>A	AF016005	CCDS95.1, CCDS41243.1	1p36.23	2013-01-25			ENSG00000142599	ENSG00000142599		"GATA zinc finger domain containing"	9965	protein-coding gene	gene with protein product		605226		ATN1L		10814707, 10729226	Standard	NM_012102		Approved	KIAA0458, ARP, ARG, DNB1	uc001apf.3	Q9P2R6	OTTHUMG00000001765	ENST00000337907.3:c.4301C>T	1.37:g.8418294G>A	ENSP00000338629:p.Ser1434Phe					RERE_ENST00000476556.1_Missense_Mutation_p.S880F|RERE_ENST00000377464.1_Missense_Mutation_p.S1166F|RERE_ENST00000400907.2_Intron|RERE_ENST00000400908.2_Missense_Mutation_p.S1434F	p.S1434F	NM_012102.3	NP_036234.3	Q9P2R6	RERE_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)	21	4935	-	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)	1434			His-rich.		O43393|O75046|O75359|Q5VXL9|Q6P6B9|Q9Y2W4	Missense_Mutation	SNP	ENST00000337907.3	37	c.4301C>T	CCDS95.1	.	.	.	.	.	.	.	.	.	.	G	25.3	4.619018	0.87460	.	.	ENSG00000142599	ENST00000337907;ENST00000377464;ENST00000476556;ENST00000400908	T;T;T	0.59906	0.23;0.25;0.23	5.61	5.61	0.85477	.	.	.	.	.	T	0.76955	0.4060	M	0.73962	2.25	0.80722	D	1	D	0.76494	0.999	D	0.74023	0.982	T	0.78558	-0.2158	9	0.87932	D	0	-15.0624	18.9896	0.92786	0.0:0.0:1.0:0.0	.	1434	Q9P2R6	RERE_HUMAN	F	1434;1166;880;1434	ENSP00000338629:S1434F;ENSP00000366684:S1166F;ENSP00000383700:S1434F	ENSP00000338629:S1434F	S	-	2	0	RERE	8340881	1.000000	0.71417	0.986000	0.45419	0.993000	0.82548	9.723000	0.98772	2.793000	0.96121	0.655000	0.94253	TCC		0.642	RERE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004916.1			15	12	0	0	0	1	0	15	12					A	8418294	G	A	8418294	3	1	188	1	0	0	0	0	1	0	0	0	13231	1174	41	3	415	3	RERE	1	8418294	Missense_Mutation	SNP	G	TCGA-G9-7525-01A-31D-2260-08		8418294	240832327	1	8761											
UBR4	23352	broad.mit.edu	37	chr1	19481549	19481549	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tacacggacacaccaccgccCgccacctggctgttactgtc	8	7	8	18	3	0	0	0	0	0	0	1	1	0	1	5	2	2	2	5	2	2	2			TCGA-G9-7525-01A-31D-2260-08	TCGA-G9-7525-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e92edf41-954e-46d6-b1ec-63e2d070f16f	476829e1-ad0a-4621-9ec5-7e20e881c540	g.chr1:19481549C>T	ENST00000375254.3	-	44	6348	c.6321G>A	c.(6319-6321)gcG>gcA	p.A2107A	UBR4_ENST00000375226.2_Silent_p.A2107A|UBR4_ENST00000375267.2_Silent_p.A2107A|UBR4_ENST00000375217.2_Silent_p.A2107A	NM_020765.2	NP_065816.2	Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	2107					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		CACCACCGCCCGCCACCTGGC	0.483																																						ENST00000375267.2																			0				breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171						c.(6319-6321)gcG>gcA		ubiquitin protein ligase E3 component n-recognin 4							143	128	133					1																	19481549		2203	4300	6503	SO:0001819	synonymous_variant	23352				interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr1:19481549C>T	AF348492	CCDS189.1	1p36.13	2008-06-23	2007-06-19	2007-06-19	ENSG00000127481	ENSG00000127481		"Ubiquitin protein ligase E3 component n-recognins"	30313	protein-coding gene	gene with protein product		609890	"zinc finger, UBR1 type 1"	ZUBR1		14702039, 10718198, 16055722	Standard	XM_005245802		Approved	KIAA1307, KIAA0462, RBAF600	uc001bbi.3	Q5T4S7	OTTHUMG00000002498	ENST00000375254.3:c.6321G>A	1.37:g.19481549C>T						UBR4_ENST00000375226.2_Silent_p.A2107A|UBR4_ENST00000375254.3_Silent_p.A2107A|UBR4_ENST00000375217.2_Silent_p.A2107A	p.A2107A			Q5T4S7	UBR4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)	44	6324	-		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)	2107					A8MPT2|A8MQ33|A8MQB1|O60646|O75050|Q4QRK5|Q5T4S8|Q5T4S9|Q5TBN8|Q5TBP2|Q6DKH8|Q6P4A4|Q7L8P7|Q8IXJ4|Q8TDN5|Q8WV67|Q9HA46|Q9P2N9|Q9UG82	Silent	SNP	ENST00000375254.3	37	c.6321G>A	CCDS189.1																																																																																				0.483	UBR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007085.1	NM_020765		10	151	0	0	0	1	0	10	151					T	19481549	C	T	19481549	2	4	188	1	0	0	0	0	0	0	0	1	16901	639	23	2		2	UBR4	1	19481549	Silent	SNP	C	TCGA-G9-7525-01A-31D-2260-08	11063255	19481549	229769072	2	8762											
SEPN1	57190	broad.mit.edu	37	chr1	26135249	26135249	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tggctacctgtccaacaaccGcttctatccaccgccgccca	8	8	6	19	3	1	0	0	0	1	0	3	0	3	0	7	1	3	2	7	1	4	3	rs199709671		TCGA-G9-7525-01A-31D-2260-08	TCGA-G9-7525-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e92edf41-954e-46d6-b1ec-63e2d070f16f	476829e1-ad0a-4621-9ec5-7e20e881c540	g.chr1:26135249G>A	ENST00000374315.1	+	4	652	c.614G>A	c.(613-615)cGc>cAc	p.R205H	SEPN1_ENST00000354177.4_Missense_Mutation_p.R205H|SEPN1_ENST00000361547.2_Missense_Mutation_p.R239H	NM_206926.1	NP_996809.1	Q9NZV5	SELN_HUMAN	selenoprotein N, 1	239						endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)	calcium ion binding (GO:0005509)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	19		Colorectal(325;3.46e-05)|Lung NSC(340;0.00038)|all_lung(284;0.00051)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0505)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0421)|OV - Ovarian serous cystadenocarcinoma(117;1.26e-25)|Colorectal(126;3.01e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|BRCA - Breast invasive adenocarcinoma(304;0.00099)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0143)|READ - Rectum adenocarcinoma(331;0.0649)		TCCAACAACCGCTTCTATCCA	0.667																																						ENST00000361547.2																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	19						c.(715-717)cGc>cAc		selenoprotein N, 1		G	HIS/ARG,HIS/ARG	0,4112		0,0,2056	58	65	62		716,614	4.9	1	1		62	2,8382		0,2,4190	yes	missense,missense	SEPN1	NM_020451.2,NM_206926.1	29,29	0,2,6246	AA,AG,GG		0.0239,0.0,0.016	probably-damaging,probably-damaging	239/591,205/557	26135249	2,12494	2056	4192	6248	SO:0001583	missense	57190					endoplasmic reticulum membrane|extracellular region	protein binding	g.chr1:26135249G>A	AF166125	CCDS41282.1, CCDS41283.1	1p36.13	2014-09-17	2004-02-13		ENSG00000162430	ENSG00000162430		"EF-hand domain containing"	15999	protein-coding gene	gene with protein product		606210	"rigid spine muscular dystrophy 1"	RSMD1, MDRS1		10608886	Standard	NM_020451		Approved	selN, RSS	uc021ojl.1	Q9NZV5	OTTHUMG00000007375	ENST00000374315.1:c.614G>A	1.37:g.26135249G>A	ENSP00000363434:p.Arg205His					SEPN1_ENST00000354177.4_Missense_Mutation_p.R205H|SEPN1_ENST00000374315.1_Missense_Mutation_p.R205H	p.R239H	NM_020451.2	NP_065184.2	Q9NZV5	SELN_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0421)|OV - Ovarian serous cystadenocarcinoma(117;1.26e-25)|Colorectal(126;3.01e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|BRCA - Breast invasive adenocarcinoma(304;0.00099)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0143)|READ - Rectum adenocarcinoma(331;0.0649)	5	771	+		Colorectal(325;3.46e-05)|Lung NSC(340;0.00038)|all_lung(284;0.00051)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0505)	239					A6NJG8|A8MQ64|Q6PI70|Q969F6|Q9NUI6	Missense_Mutation	SNP	ENST00000374315.1	37	c.716G>A	CCDS41283.1	.	.	.	.	.	.	.	.	.	.	G	25.5	4.641818	0.87859	0.0	2.39E-4	ENSG00000162430	ENST00000361547;ENST00000354177;ENST00000374315	D;D;D	0.91407	-2.84;-2.8;-2.8	5.84	4.92	0.64577	.	0.000000	0.85682	D	0.000000	D	0.90511	0.7027	M	0.67953	2.075	0.80722	D	1	D;P	0.55800	0.973;0.954	P;B	0.46110	0.504;0.307	D	0.91520	0.5234	10	0.72032	D	0.01	-27.4492	14.3565	0.66740	0.0706:0.0:0.9294:0.0	.	205;239	Q9NZV5-2;Q9NZV5	.;SELN_HUMAN	H	239;205;205	ENSP00000355141:R239H;ENSP00000346109:R205H;ENSP00000363434:R205H	ENSP00000346109:R205H	R	+	2	0	SEPN1	26007836	1.000000	0.71417	1.000000	0.80357	0.440000	0.31957	7.816000	0.86201	2.768000	0.95171	0.561000	0.74099	CGC		0.667	SEPN1-002	KNOWN	basic|appris_candidate_longest|CCDS|seleno	protein_coding	protein_coding	OTTHUMT00000019315.2	NM_020451		4	145	0	0	0	1	0	4	145					A	26135249	G	A	26135249	3	1	188	1	0	0	0	0	1	0	0	0	14056	1087	38	1	734	1	SEPN1	1	26135249	Missense_Mutation	SNP	G	TCGA-G9-7525-01A-31D-2260-08	6653700	26135249	223115372	3	8763											
COL24A1	255631	broad.mit.edu	37	chr1	86210365	86210365	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttaccatctgatactttttgTtcacagttaagtaaatcttt	11	19	4	7	0	3	1	1	1	2	0	3	1	3	1	1	0	2	3	1	0	5	8			TCGA-G9-7525-01A-31D-2260-08	TCGA-G9-7525-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e92edf41-954e-46d6-b1ec-63e2d070f16f	476829e1-ad0a-4621-9ec5-7e20e881c540	g.chr1:86210365T>G	ENST00000370571.2	-	57	5022	c.4656A>C	c.(4654-4656)gaA>gaC	p.E1552D	COL24A1_ENST00000436319.1_Missense_Mutation_p.E1531D	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1	1552	Fibrillar collagen NC1. {ECO:0000255|PROSITE-ProRule:PRU00793}.				extracellular matrix organization (GO:0030198)|hematopoietic progenitor cell differentiation (GO:0002244)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)			NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		ATACTTTTTGTTCACAGTTAA	0.373																																						ENST00000370571.2																			0				NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101						c.(4654-4656)gaA>gaC		collagen, type XXIV, alpha 1							154	142	146					1																	86210365		1855	4090	5945	SO:0001583	missense	255631				cell adhesion	collagen	extracellular matrix structural constituent	g.chr1:86210365T>G	AF410793	CCDS41353.1	1p22.3-p22.2	2013-01-16			ENSG00000171502	ENSG00000171502		"Collagens"	20821	protein-coding gene	gene with protein product		610025					Standard	NM_152890		Approved		uc001dlj.3	Q17RW2	OTTHUMG00000010629	ENST00000370571.2:c.4656A>C	1.37:g.86210365T>G	ENSP00000359603:p.Glu1552Asp					COL24A1_ENST00000436319.1_Missense_Mutation_p.E1531D	p.E1552D	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN		all cancers(265;0.0627)|Epithelial(280;0.0689)	57	5022	-			1552			Fibrillar collagen NC1.		C9J1X6|Q14BD7|Q59EX5|Q5VY50|Q7Z5L5	Missense_Mutation	SNP	ENST00000370571.2	37	c.4656A>C	CCDS41353.1	.	.	.	.	.	.	.	.	.	.	T	14.23	2.473963	0.43942	.	.	ENSG00000171502	ENST00000370571;ENST00000436319	T;T	0.73469	-0.75;-0.75	5.29	4.17	0.49024	Fibrillar collagen, C-terminal (3);	0.558717	0.15061	N	0.282775	T	0.62612	0.2442	N	0.25825	0.765	0.34458	D	0.701428	P;P	0.49862	0.929;0.855	P;P	0.59115	0.852;0.69	T	0.61633	-0.7023	10	0.35671	T	0.21	.	9.4245	0.38572	0.0:0.1525:0.0:0.8475	.	1552;1531	Q17RW2;Q17RW2-2	COOA1_HUMAN;.	D	1552;1531	ENSP00000359603:E1552D;ENSP00000392531:E1531D	ENSP00000359603:E1552D	E	-	3	2	COL24A1	85982953	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	0.698000	0.25571	0.968000	0.38212	0.460000	0.39030	GAA		0.373	COL24A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029335.4	NM_152890		13	62	0	0	0	1	0	13	62					G	86210365	T	G	86210365	3	3	188	1	0	0	0	0	1	0	0	0	3683	1722	60	5	504	5	COL24A1	1	86210365	Missense_Mutation	SNP	T	TCGA-G9-7525-01A-31D-2260-08	60075116	86210365	163040256	4	8764											
GDAP2	54834	broad.mit.edu	37	chr1	118426197	118426197	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gggtgtgaaaatacactaatAcatactccttcacagcaatg	15	10	7	9	0	1	1	1	1	0	0	2	1	2	1	1	1	4	1	1	1	7	5			TCGA-G9-7525-01A-31D-2260-08	TCGA-G9-7525-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e92edf41-954e-46d6-b1ec-63e2d070f16f	476829e1-ad0a-4621-9ec5-7e20e881c540	g.chr1:118426197A>C	ENST00000369443.5	-	11	1409	c.1160T>G	c.(1159-1161)gTa>gGa	p.V387G	GDAP2_ENST00000369442.3_Missense_Mutation_p.V387G|GDAP2_ENST00000464026.1_5'UTR	NM_017686.3	NP_060156.1	Q9NXN4	GDAP2_HUMAN	ganglioside induced differentiation associated protein 2	387	CRAL-TRIO.				response to retinoic acid (GO:0032526)	lysosomal membrane (GO:0005765)				kidney(2)|large_intestine(3)|lung(9)|ovary(2)	16		all_cancers(81;0.0156)|all_lung(203;5.81e-05)|Lung NSC(69;0.000446)|all_epithelial(167;0.00295)		Lung(183;0.0583)|LUSC - Lung squamous cell carcinoma(189;0.194)		ATACACTAATACATACTCCTT	0.363																																						ENST00000369443.4																			0				kidney(2)|large_intestine(3)|lung(9)|ovary(2)	16						c.(1159-1161)gTa>gGa		ganglioside induced differentiation associated protein 2							90	84	86					1																	118426197		2203	4300	6503	SO:0001583	missense	54834							g.chr1:118426197A>C	AK000149	CCDS897.1, CCDS44201.1	1q11	2011-10-20			ENSG00000196505	ENSG00000196505			18010	protein-coding gene	gene with protein product						1021725	Standard	NM_017686		Approved	FLJ20142, dJ776P7.1, MACROD3	uc001ehf.3	Q9NXN4	OTTHUMG00000012199	ENST00000369443.5:c.1160T>G	1.37:g.118426197A>C	ENSP00000358451:p.Val387Gly					GDAP2_ENST00000464026.1_5'UTR|GDAP2_ENST00000369442.3_Missense_Mutation_p.V387G	p.V387G	NM_017686.3	NP_060156.1	Q9NXN4	GDAP2_HUMAN		Lung(183;0.0583)|LUSC - Lung squamous cell carcinoma(189;0.194)	11	1409	-		all_cancers(81;0.0156)|all_lung(203;5.81e-05)|Lung NSC(69;0.000446)|all_epithelial(167;0.00295)	387			CRAL-TRIO.		Q96DZ0	Missense_Mutation	SNP	ENST00000369443.5	37	c.1160T>G	CCDS897.1	.	.	.	.	.	.	.	.	.	.	A	22.3	4.266137	0.80358	.	.	ENSG00000196505	ENST00000369443;ENST00000369442	T;T	0.69175	-0.38;-0.38	4.88	4.88	0.63580	Cellular retinaldehyde-binding/triple function, C-terminal (3);	0.000000	0.85682	D	0.000000	T	0.80449	0.4625	M	0.86651	2.83	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.84906	0.0845	10	0.87932	D	0	-15.4354	14.5006	0.67719	1.0:0.0:0.0:0.0	.	387;387	Q9NXN4-2;Q9NXN4	.;GDAP2_HUMAN	G	387	ENSP00000358451:V387G;ENSP00000358450:V387G	ENSP00000358450:V387G	V	-	2	0	GDAP2	118227720	1.000000	0.71417	0.595000	0.28798	0.911000	0.54048	8.962000	0.93254	1.830000	0.53286	0.397000	0.26171	GTA		0.363	GDAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033732.2	NM_017686		3	40	0	0	0	1	0	3	40					C	118426197	A	C	118426197	3	2	188	1	0	0	0	0	1	0	0	0	6309	391	14	5	394	5	GDAP2	1	118426197	Missense_Mutation	SNP	A	TCGA-G9-7525-01A-31D-2260-08	32215832	118426197	130824424	5	8765											
NOTCH2	4853	broad.mit.edu	37	chr1	120611955	120611955	+	Frame_Shift_Del	DEL	G	G	-																															gcccgatactcaccatgcgcGggggccgcgcagcacagcca																										TCGA-G9-7525-01A-31D-2260-08	TCGA-G9-7525-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e92edf41-954e-46d6-b1ec-63e2d070f16f	476829e1-ad0a-4621-9ec5-7e20e881c540	g.chr1:120611955delG	ENST00000256646.2	-	1	285	c.66delC	c.(64-66)cccfs	p.P22fs		NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2	22					apoptotic process (GO:0006915)|atrial septum morphogenesis (GO:0060413)|bone remodeling (GO:0046849)|cell cycle arrest (GO:0007050)|cell fate determination (GO:0001709)|cell growth (GO:0016049)|ciliary body morphogenesis (GO:0061073)|determination of left/right symmetry (GO:0007368)|embryonic limb morphogenesis (GO:0030326)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|humoral immune response (GO:0006959)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|intracellular receptor signaling pathway (GO:0030522)|morphogenesis of an epithelial sheet (GO:0002011)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|placenta blood vessel development (GO:0060674)|positive regulation of apoptotic process (GO:0043065)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation (GO:0008284)|positive regulation of Ras protein signal transduction (GO:0046579)|pulmonary valve morphogenesis (GO:0003184)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell surface (GO:0009986)|cilium (GO:0005929)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|ligand-activated RNA polymerase II transcription factor binding transcription factor activity (GO:0038049)|receptor activity (GO:0004872)			breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		CACCATGCGCGGGGGCCGCGC	0.756			"N, F, Mis"		"marginal zone lymphoma, DLBCL"				Alagille Syndrome																													ENST00000256646.2				Dom	yes		1	1p13-p11	4853	"N, F, Mis"	Notch homolog 2			L			"marginal zone lymphoma, DLBCL"		0				breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158						c.(64-66)ccfs		notch 2							6	8	7					1																	120611955		1679	3692	5371	SO:0001589	frameshift_variant	4853	Alagille Syndrome	Familial Cancer Database	ALGS1, ALGS2.Alagille-Watson syndrome	anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity	g.chr1:120611955delG	AF315356	CCDS908.1	1p13-p11	2013-01-10	2010-06-24		ENSG00000134250	ENSG00000134250		"Ankyrin repeat domain containing"	7882	protein-coding gene	gene with protein product		600275	"Notch (Drosophila) homolog 2", "Notch homolog 2 (Drosophila)"			7698746	Standard	NM_001200001		Approved		uc001eik.3	Q04721	OTTHUMG00000012177	ENST00000256646.2:c.66delC	1.37:g.120611955delG	ENSP00000256646:p.Pro22fs						p.P22fs	NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)	1	285	-	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)	22					Q5T3X7|Q99734|Q9H240	Frame_Shift_Del	DEL	ENST00000256646.2	37	c.66delC	CCDS908.1																																																																																				0.756	NOTCH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033679.1	NM_024408		2	4						2	4	---	---	---	---	-	120611955	G	-	120611955	7	5	188	1	0	1	0	1	0	0	0	0	10548	1103	39	0	7485	0	NOTCH2	1	120611955	Frame_Shift_Del	DEL	G	TCGA-G9-7525-01A-31D-2260-08	2185758	120611955	128638666	6	8766											
IVNS1ABP	10625	broad.mit.edu	37	chr1	185267218	185267218	+	Nonsense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cattcatttgactcaaggttAtagacttccaccgtattcag	11	14	6	10	1	3	2	3	1	0	1	4	2	4	2	2	1	0	2	2	1	4	7			TCGA-G9-7525-01A-31D-2260-08	TCGA-G9-7525-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e92edf41-954e-46d6-b1ec-63e2d070f16f	476829e1-ad0a-4621-9ec5-7e20e881c540	g.chr1:185267218A>C	ENST00000367498.3	-	15	2500	c.1878T>G	c.(1876-1878)taT>taG	p.Y626*	IVNS1ABP_ENST00000392007.3_Nonsense_Mutation_p.Y408*|IVNS1ABP_ENST00000459929.1_5'UTR	NM_006469.4	NP_006460.2	Q9Y6Y0	NS1BP_HUMAN	influenza virus NS1A binding protein	626					negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|response to virus (GO:0009615)|RNA splicing (GO:0008380)|transcription from RNA polymerase III promoter (GO:0006383)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|spliceosomal complex (GO:0005681)|transcription factor complex (GO:0005667)				breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|ovary(4)|prostate(2)	29						ACTCAAGGTTATAGACTTCCA	0.403																																						ENST00000367498.3																			0				breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|ovary(4)|prostate(2)	29						c.(1876-1878)taT>taG		influenza virus NS1A binding protein							167	163	165					1																	185267218		2203	4300	6503	SO:0001587	stop_gained	10625				interspecies interaction between organisms|response to virus|RNA splicing|transcription from RNA polymerase III promoter	cytoplasm|cytoskeleton|spliceosomal complex|transcription factor complex		g.chr1:185267218A>C	AB020657	CCDS1368.1	1q25.1-q31.1	2013-01-30			ENSG00000116679	ENSG00000116679		"Kelch-like", "BTB/POZ domain containing"	16951	protein-coding gene	gene with protein product	"kelch-like family member 39"	609209				9696811, 10048485	Standard	NM_006469		Approved	NS1-BP, HSPC068, NS-1, KIAA0850, ND1, KLHL39	uc001grl.3	Q9Y6Y0	OTTHUMG00000035384	ENST00000367498.3:c.1878T>G	1.37:g.185267218A>C	ENSP00000356468:p.Tyr626*					IVNS1ABP_ENST00000392007.3_Nonsense_Mutation_p.Y408*|IVNS1ABP_ENST00000459929.1_5'UTR	p.Y626*	NM_006469.4	NP_006460.2	Q9Y6Y0	NS1BP_HUMAN			15	2500	-			626					A8K8R6|Q1G4T6|Q1G4T7|Q5TF75|Q6NW38|Q7LCG2|Q9NZX0|Q9Y480	Nonsense_Mutation	SNP	ENST00000367498.3	37	c.1878T>G	CCDS1368.1	.	.	.	.	.	.	.	.	.	.	A	42	9.559900	0.99205	.	.	ENSG00000116679	ENST00000367498;ENST00000392007	.	.	.	5.38	-0.977	0.10282	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.8756	0.57988	0.5902:0.0:0.4098:0.0	.	.	.	.	X	626;408	.	ENSP00000356468:Y626X	Y	-	3	2	IVNS1ABP	183533841	1.000000	0.71417	0.706000	0.30403	0.426000	0.31534	0.982000	0.29539	-0.388000	0.07797	-1.450000	0.01041	TAT		0.403	IVNS1ABP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085774.1	NM_006469		52	99	0	0	0	1	0	52	99					C	185267218	A	C	185267218	4	2	188	1	0	0	0	0	0	1	0	0	7930	456	16	5	54	5	IVNS1ABP	1	185267218	Nonsense_Mutation	SNP	A	TCGA-G9-7525-01A-31D-2260-08	64655263	185267218	63983403	7	8767											
PLA2G4A	5321	broad.mit.edu	37	chr1	186862236	186862236	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caataatgacataaaccctgTgtggaatgagacctttgaat	15	11	8	7	0	0	3	0	3	0	1	0	5	0	4	2	1	1	0	2	1	6	3			TCGA-G9-7525-01A-31D-2260-08	TCGA-G9-7525-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e92edf41-954e-46d6-b1ec-63e2d070f16f	476829e1-ad0a-4621-9ec5-7e20e881c540	g.chr1:186862236T>G	ENST00000367466.3	+	4	361	c.209T>G	c.(208-210)gTg>gGg	p.V70G	PLA2G4A_ENST00000466600.1_3'UTR|PLA2G4A_ENST00000442353.2_Missense_Mutation_p.V70G	NM_024420.2	NP_077734	P47712	PA24A_HUMAN	phospholipase A2, group IVA (cytosolic, calcium-dependent)	70	C2. {ECO:0000255|PROSITE- ProRule:PRU00041}.|Phospholipid binding. {ECO:0000305}.				arachidonic acid metabolic process (GO:0019369)|arachidonic acid secretion (GO:0050482)|blood coagulation (GO:0007596)|cardiolipin acyl-chain remodeling (GO:0035965)|cellular response to antibiotic (GO:0071236)|glycerophospholipid biosynthetic process (GO:0046474)|icosanoid biosynthetic process (GO:0046456)|icosanoid metabolic process (GO:0006690)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid catabolic process (GO:0009395)|phospholipid metabolic process (GO:0006644)|platelet activating factor biosynthetic process (GO:0006663)|platelet activation (GO:0030168)|regulation of cell proliferation (GO:0042127)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|mitochondrial inner membrane (GO:0005743)	calcium ion binding (GO:0005509)|calcium-dependent phospholipase A2 activity (GO:0047498)|calcium-dependent phospholipid binding (GO:0005544)|lysophospholipase activity (GO:0004622)|phospholipase A2 activity (GO:0004623)	p.V70E(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|prostate(3)|skin(4)|stomach(1)	53					Aldesleukin(DB00041)|Carbachol(DB00411)|Carbenicillin(DB00578)|Epirubicin(DB00445)|Fluocinolone Acetonide(DB00591)|Fluticasone Propionate(DB00588)|Niflumic Acid(DB04552)|Orlistat(DB01083)|Quinacrine(DB01103)|Streptokinase(DB00086)|Suramin(DB04786)	ATAAACCCTGTGTGGAATGAG	0.378																																						ENST00000367466.3																			1	Substitution - Missense(1)	p.V70E(1)	lung(1)	breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|prostate(3)|skin(4)|stomach(1)	53						c.(208-210)gTg>gGg		phospholipase A2, group IVA (cytosolic, calcium-dependent)	Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Medrysone(DB00253)|Quinacrine(DB01103)						195	195	195					1																	186862236		2203	4300	6503	SO:0001583	missense	5321				phospholipid catabolic process|platelet activating factor biosynthetic process|platelet activation	cytosol|endoplasmic reticulum membrane	calcium ion binding|calcium-dependent phospholipid binding|lysophospholipase activity	g.chr1:186862236T>G	M72393	CCDS1372.1	1q25	2014-09-17			ENSG00000116711	ENSG00000116711	3.1.1.4, 3.1.1.5		9035	protein-coding gene	gene with protein product		600522		PLA2G4		8175726	Standard	NM_024420		Approved	cPLA2-alpha	uc001gsc.3	P47712	OTTHUMG00000035512	ENST00000367466.3:c.209T>G	1.37:g.186862236T>G	ENSP00000356436:p.Val70Gly					PLA2G4A_ENST00000442353.2_Missense_Mutation_p.V70G|PLA2G4A_ENST00000466600.1_3'UTR	p.V70G	NM_024420.2	NP_077734.1	P47712	PA24A_HUMAN			4	361	+			70			C2.|Phospholipid binding (Probable).		B1AKG4|Q29R80	Missense_Mutation	SNP	ENST00000367466.3	37	c.209T>G	CCDS1372.1	.	.	.	.	.	.	.	.	.	.	T	16.54	3.152803	0.57259	.	.	ENSG00000116711	ENST00000367466;ENST00000442353	T;T	0.73047	-0.71;-0.71	5.69	5.69	0.88448	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.161534	0.53938	D	0.000044	T	0.78298	0.4261	M	0.91300	3.195	0.58432	D	0.999998	P;P	0.37731	0.607;0.557	B;B	0.38562	0.276;0.269	T	0.81409	-0.0946	10	0.48119	T	0.1	-11.799	15.1232	0.72460	0.0:0.0:0.0:1.0	.	70;70	E7EU42;P47712	.;PA24A_HUMAN	G	70	ENSP00000356436:V70G;ENSP00000406892:V70G	ENSP00000356436:V70G	V	+	2	0	PLA2G4A	185128859	1.000000	0.71417	0.997000	0.53966	0.998000	0.95712	2.991000	0.49409	2.162000	0.67917	0.533000	0.62120	GTG		0.378	PLA2G4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086236.1	NM_024420		19	151	0	0	0	1	0	19	151					G	186862236	T	G	186862236	3	3	188	1	0	0	0	0	1	0	0	0	12001	1696	59	5	219	5	PLA2G4A	1	186862236	Missense_Mutation	SNP	T	TCGA-G9-7525-01A-31D-2260-08	1595018	186862236	62388385	8	8768											
COL6A3	1293	broad.mit.edu	37	chr2	238289893	238289893	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cagagcccgtgtacagggccGagccgtccaggggcttcatt	7	7	14	13	3	1	1	1	0	0	1	2	2	2	1	4	3	3	2	4	3	1	3	rs115881121	byFrequency	TCGA-G9-7525-01A-31D-2260-08	TCGA-G9-7525-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e92edf41-954e-46d6-b1ec-63e2d070f16f	476829e1-ad0a-4621-9ec5-7e20e881c540	g.chr2:238289893G>A	ENST00000295550.4	-	5	2014	c.1562C>T	c.(1561-1563)tCg>tTg	p.S521L	COL6A3_ENST00000472056.1_Missense_Mutation_p.S114L|COL6A3_ENST00000409809.1_Missense_Mutation_p.S315L|COL6A3_ENST00000392004.3_Missense_Mutation_p.S315L|COL6A3_ENST00000346358.4_Missense_Mutation_p.S521L|COL6A3_ENST00000347401.3_Missense_Mutation_p.S320L|COL6A3_ENST00000353578.4_Missense_Mutation_p.S315L|COL6A3_ENST00000392003.2_Missense_Mutation_p.S114L	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	521	Nonhelical region.|VWFA 3. {ECO:0000255|PROSITE- ProRule:PRU00219}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|response to glucose (GO:0009749)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.S521L(1)		breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		GTACAGGGCCGAGCCGTCCAG	0.517													G|||	5	0.000998403	0	0	5008	,	,		19627	0.005		0	False		,,,				2504	0					ENST00000295550.4																			1	Substitution - Missense(1)	p.S521L(1)	central_nervous_system(1)	breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217						c.(1561-1563)tCg>tTg		collagen, type VI, alpha 3							91	103	99					2																	238289893		2203	4300	6503	SO:0001583	missense	1293				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity	g.chr2:238289893G>A	X52022	CCDS33409.1, CCDS33410.1, CCDS33411.1, CCDS33412.1, CCDS33410.2, CCDS33411.2, CCDS54439.1	2q37	2014-09-17			ENSG00000163359	ENSG00000163359		"Collagens"	2213	protein-coding gene	gene with protein product		120250				1339440, 11992252	Standard	NM_004369		Approved		uc002vwl.2	P12111	OTTHUMG00000150020	ENST00000295550.4:c.1562C>T	2.37:g.238289893G>A	ENSP00000295550:p.Ser521Leu					COL6A3_ENST00000353578.4_Missense_Mutation_p.S315L|COL6A3_ENST00000472056.1_Missense_Mutation_p.S114L|COL6A3_ENST00000346358.4_Missense_Mutation_p.S521L|COL6A3_ENST00000409809.1_Missense_Mutation_p.S315L|COL6A3_ENST00000392004.3_Missense_Mutation_p.S315L|COL6A3_ENST00000392003.2_Missense_Mutation_p.S114L|COL6A3_ENST00000347401.3_Missense_Mutation_p.S320L	p.S521L	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)	5	2014	-		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)	521			Nonhelical region.|VWFA 3.		A8MT30|B4E3U5|B7ZMJ7|E9PFQ6|E9PGQ9|Q16501|Q53QF4|Q53QF6	Missense_Mutation	SNP	ENST00000295550.4	37	c.1562C>T	CCDS33412.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	9.304	1.053919	0.19907	.	.	ENSG00000163359	ENST00000295550;ENST00000347401;ENST00000353578;ENST00000472056;ENST00000409809;ENST00000346358;ENST00000392004;ENST00000392003;ENST00000433762	D;D;D;D;D;D;D;D;D	0.83673	-1.75;-1.75;-1.75;-1.75;-1.75;-1.75;-1.75;-1.75;-1.75	5.5	4.61	0.57282	von Willebrand factor, type A (3);	0.899723	0.09244	N	0.828813	D	0.84365	0.5456	L	0.27944	0.81	0.09310	N	1	B;D;B;P;P;B	0.60160	0.375;0.987;0.325;0.539;0.946;0.375	B;P;B;B;B;B	0.56788	0.064;0.806;0.164;0.228;0.406;0.064	T	0.75496	-0.3297	10	0.46703	T	0.11	.	15.6622	0.77197	0.0:0.0:0.8617:0.1383	.	521;114;114;315;315;521	E9PCV6;E9PFQ6;A8MT30;E9PGQ9;P12111-2;P12111	.;.;.;.;.;CO6A3_HUMAN	L	521;320;315;114;315;521;315;114;521	ENSP00000295550:S521L;ENSP00000315609:S320L;ENSP00000315873:S315L;ENSP00000418285:S114L;ENSP00000386844:S315L;ENSP00000295546:S521L;ENSP00000375861:S315L;ENSP00000375860:S114L;ENSP00000389539:S521L	ENSP00000295550:S521L	S	-	2	0	COL6A3	237954632	0.020000	0.18652	0.003000	0.11579	0.262000	0.26303	2.000000	0.40816	1.289000	0.44618	-0.182000	0.12963	TCG		0.517	COL6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315790.2	NM_004369		29	65	0	0	0	1	0	29	65					A	238289893	G	A	238289893	3	1	188	1	0	0	0	0	1	0	0	0	3701	1059	37	2	8178	2	COL6A3	2	238289893	Missense_Mutation	SNP	G	TCGA-G9-7525-01A-31D-2260-08		238289893	4909480	9	8769											
C3orf19	51244	broad.mit.edu	37	chr3	14712672	14712672	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttcaaaactctggatgacAtgatttcctattacaaacaa	15	13	4	9	0	2	2	1	2	1	0	3	3	3	3	1	1	3	0	1	1	6	4	rs377188267		TCGA-G9-7525-01A-31D-2260-08	TCGA-G9-7525-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e92edf41-954e-46d6-b1ec-63e2d070f16f	476829e1-ad0a-4621-9ec5-7e20e881c540	g.chr3:14712672A>G	ENST00000383794.3	+	11	1448	c.1375A>G	c.(1375-1377)Atg>Gtg	p.M459V	CCDC174_ENST00000303688.7_Missense_Mutation_p.M383V	NM_016474.4	NP_057558.3	Q6PII3	CC174_HUMAN	coiled-coil domain containing 174	459						cytoplasm (GO:0005737)|nucleus (GO:0005634)											TCTGGATGACATGATTTCCTA	0.483																																						ENST00000383794.3																			0											c.(1375-1377)Atg>Gtg		coiled-coil domain containing 174		A	VAL/MET	0,4406		0,0,2203	86	86	86		1375	4.4	1	3		86	1,8599		0,1,4299	no	missense	C3orf19	NM_016474.4	21	0,1,6502	GG,GA,AA		0.0116,0.0,0.0077	possibly-damaging	459/468	14712672	1,13005	2203	4300	6503	SO:0001583	missense	51244							g.chr3:14712672A>G	AF151046	CCDS2620.2	3p25.1	2012-09-20	2012-09-20	2012-09-20	ENSG00000154781	ENSG00000154781			28033	protein-coding gene	gene with protein product			"chromosome 3 open reading frame 19"	C3orf19		11042152	Standard	NM_016474		Approved	FLJ33839	uc003byw.3	Q6PII3	OTTHUMG00000129837	ENST00000383794.3:c.1375A>G	3.37:g.14712672A>G	ENSP00000373304:p.Met459Val					CCDC174_ENST00000303688.7_Missense_Mutation_p.M383V	p.M459V	NM_016474.4	NP_057558.3					11	1448	+								Q96CS5	Missense_Mutation	SNP	ENST00000383794.3	37	c.1375A>G	CCDS2620.2	.	.	.	.	.	.	.	.	.	.	A	19.60	3.858694	0.71834	0.0	1.16E-4	ENSG00000154781	ENST00000383794;ENST00000303688;ENST00000285042	T;T	0.54071	0.86;0.59	5.61	4.38	0.52667	.	0.185936	0.56097	D	0.000038	T	0.49304	0.1549	L	0.56769	1.78	0.26833	N	0.968544	P	0.45428	0.858	B	0.41723	0.365	T	0.54377	-0.8303	10	0.66056	D	0.02	-37.7407	11.5003	0.50433	0.85:0.15:0.0:0.0	.	459	Q6PII3	CC019_HUMAN	V	459;383;286	ENSP00000373304:M459V;ENSP00000302344:M383V	ENSP00000285042:M286V	M	+	1	0	C3orf19	14687676	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	3.892000	0.56235	2.133000	0.65898	0.482000	0.46254	ATG		0.483	CCDC174-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252077.2	NM_016474		33	48	0	0	0	1	0	33	48					G	14712672	A	G	14712672	3	3	188	1	0	0	0	0	1	0	0	0	2212	217	8	4	1417	4	C3orf19	3	14712672	Missense_Mutation	SNP	A	TCGA-G9-7525-01A-31D-2260-08		14712672	183309758	10	8770											
TRANK1	9881	broad.mit.edu	37	chr3	36898225	36898225	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcggcctctgtgtcctccacAtagcagcgaggtatacgctt	7	11	10	13	3	1	0	0	0	1	0	4	1	3	0	3	2	3	3	3	2	3	4			TCGA-G9-7525-01A-31D-2260-08	TCGA-G9-7525-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e92edf41-954e-46d6-b1ec-63e2d070f16f	476829e1-ad0a-4621-9ec5-7e20e881c540	g.chr3:36898225A>G	ENST00000429976.2	-	12	3103	c.2856T>C	c.(2854-2856)taT>taC	p.Y952Y	TRANK1_ENST00000428977.2_Silent_p.Y402Y|TRANK1_ENST00000301807.6_Silent_p.Y402Y	NM_014831.2	NP_055646.2	O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	952							ATP binding (GO:0005524)|hydrolase activity (GO:0016787)			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						TGTCCTCCACATAGCAGCGAG	0.498																																						ENST00000429976.2																			0				NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						c.(2854-2856)taT>taC		tetratricopeptide repeat and ankyrin repeat containing 1							204	204	204					3																	36898225		2088	4216	6304	SO:0001819	synonymous_variant	9881				DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding	g.chr3:36898225A>G	AK096678	CCDS46789.1, CCDS46789.2	3p22.2	2013-01-11			ENSG00000168016	ENSG00000168016		"Ankyrin repeat domain containing", "Tetratricopeptide (TTC) repeat domain containing"	29011	protein-coding gene	gene with protein product	"lupus brain antigen 1", "KIAA0342"					9205841	Standard	NM_014831		Approved	LBA1, KIAA0342	uc003cgj.3	O15050	OTTHUMG00000155848	ENST00000429976.2:c.2856T>C	3.37:g.36898225A>G						TRANK1_ENST00000428977.2_Silent_p.Y402Y|TRANK1_ENST00000301807.6_Silent_p.Y402Y	p.Y952Y			O15050	TRNK1_HUMAN			12	3103	-			952					Q8N8K0	Silent	SNP	ENST00000429976.2	37	c.2856T>C	CCDS46789.2																																																																																				0.498	TRANK1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_014831		5	216	0	0	0	1	0	5	216					G	36898225	A	G	36898225	2	3	188	1	0	0	0	0	0	0	0	1	16451	224	8	4		4	TRANK1	3	36898225	Silent	SNP	A	TCGA-G9-7525-01A-31D-2260-08	22185553	36898225	161124205	11	8771											
LTF	4057	broad.mit.edu	37	chr3	46490370	46490370	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctaccagcaccagggcgatgCagtcctctgtggtggaggcc	7	7	14	13	1	1	0	0	0	1	0	2	2	2	1	4	4	3	2	4	4	1	1			TCGA-G9-7525-01A-31D-2260-08	TCGA-G9-7525-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e92edf41-954e-46d6-b1ec-63e2d070f16f	476829e1-ad0a-4621-9ec5-7e20e881c540	g.chr3:46490370C>T	ENST00000231751.4	-	9	1491	c.1196G>A	c.(1195-1197)tGc>tAc	p.C399Y	LTF_ENST00000426532.2_Missense_Mutation_p.C355Y|LTF_ENST00000417439.1_Missense_Mutation_p.C399Y	NM_002343.3	NP_002334.2	P02788	TRFL_HUMAN	lactotransferrin	399	Transferrin-like 2. {ECO:0000255|PROSITE- ProRule:PRU00741}.				antibacterial humoral response (GO:0019731)|antifungal humoral response (GO:0019732)|bone morphogenesis (GO:0060349)|humoral immune response (GO:0006959)|innate immune response in mucosa (GO:0002227)|interaction with host (GO:0051701)|iron assimilation by chelation and transport (GO:0033214)|iron ion transport (GO:0006826)|negative regulation of apoptotic process (GO:0043066)|negative regulation of lipopolysaccharide-mediated signaling pathway (GO:0031665)|negative regulation of osteoclast development (GO:2001205)|negative regulation of single-species biofilm formation in or on host organism (GO:1900229)|negative regulation of tumor necrosis factor (ligand) superfamily member 11 production (GO:2000308)|ossification (GO:0001503)|phagosome maturation (GO:0090382)|positive regulation of bone mineralization involved in bone maturation (GO:1900159)|positive regulation of chondrocyte proliferation (GO:1902732)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of osteoblast proliferation (GO:0033690)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of toll-like receptor 4 signaling pathway (GO:0034145)|regulation of cytokine production (GO:0001817)|regulation of tumor necrosis factor production (GO:0032680)|response to host immune response (GO:0052572)|retina homeostasis (GO:0001895)|transcription, DNA-templated (GO:0006351)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|phagocytic vesicle lumen (GO:0097013)|secretory granule (GO:0030141)|specific granule (GO:0042581)	DNA binding (GO:0003677)|ferric iron binding (GO:0008199)|heparin binding (GO:0008201)|iron ion binding (GO:0005506)|protein serine/threonine kinase activator activity (GO:0043539)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	40				all cancers(1;7.55e-14)|GBM - Glioblastoma multiforme(1;2.1e-09)|Epithelial(1;9.25e-07)|Colorectal(1;3.81e-05)|BRCA - Breast invasive adenocarcinoma(193;0.00129)|COAD - Colon adenocarcinoma(1;0.00308)|KIRC - Kidney renal clear cell carcinoma(197;0.0205)|Kidney(197;0.0242)|OV - Ovarian serous cystadenocarcinoma(275;0.089)		CAGGGCGATGCAGTCCTCTGT	0.637																																						ENST00000231751.4																			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	40						c.(1195-1197)tGc>tAc		lactotransferrin	Pefloxacin(DB00487)						40	37	38					3																	46490370		2203	4295	6498	SO:0001583	missense	4057				cellular iron ion homeostasis|defense response to bacterium|humoral immune response|iron ion transport	extracellular region|stored secretory granule	ferric iron binding|heparin binding|protein binding|serine-type endopeptidase activity	g.chr3:46490370C>T		CCDS33747.1, CCDS56251.1	3p21.31	2012-10-02			ENSG00000012223	ENSG00000012223			6720	protein-coding gene	gene with protein product		150210				17476971, 3356163	Standard	NM_001199149		Approved	HLF2	uc003cpq.3	P02788	OTTHUMG00000156325	ENST00000231751.4:c.1196G>A	3.37:g.46490370C>T	ENSP00000231751:p.Cys399Tyr					LTF_ENST00000417439.1_Missense_Mutation_p.C399Y|LTF_ENST00000426532.2_Missense_Mutation_p.C355Y	p.C399Y	NM_002343.3	NP_002334.2	P02788	TRFL_HUMAN		all cancers(1;7.55e-14)|GBM - Glioblastoma multiforme(1;2.1e-09)|Epithelial(1;9.25e-07)|Colorectal(1;3.81e-05)|BRCA - Breast invasive adenocarcinoma(193;0.00129)|COAD - Colon adenocarcinoma(1;0.00308)|KIRC - Kidney renal clear cell carcinoma(197;0.0205)|Kidney(197;0.0242)|OV - Ovarian serous cystadenocarcinoma(275;0.089)	9	1491	-			399			Transferrin-like 2.		A8K9U8|B2MV13|B7Z4X2|E7EQH5|O00756|Q16780|Q16785|Q16786|Q16789|Q5DSM0|Q8IU92|Q8IZH6|Q8TCD2|Q96KZ4|Q96KZ5|Q9H1Z3|Q9UCY5	Missense_Mutation	SNP	ENST00000231751.4	37	c.1196G>A	CCDS33747.1	.	.	.	.	.	.	.	.	.	.	C	14.77	2.633168	0.47049	.	.	ENSG00000012223	ENST00000231751;ENST00000426532;ENST00000417439;ENST00000443496	T;T;T;T	0.56275	0.47;0.47;0.47;0.47	4.94	4.94	0.65067	.	0.044560	0.85682	D	0.000000	D	0.83686	0.5308	H	0.98866	4.355	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.87578	0.998;0.977;0.998	D	0.90417	0.4414	10	0.87932	D	0	-20.537	16.0966	0.81129	0.0:1.0:0.0:0.0	.	399;386;399	E7ER44;E7EQB2;P02788	.;.;TRFL_HUMAN	Y	399;355;399;386	ENSP00000231751:C399Y;ENSP00000405719:C355Y;ENSP00000405546:C399Y;ENSP00000397427:C386Y	ENSP00000231751:C399Y	C	-	2	0	LTF	46465374	1.000000	0.71417	1.000000	0.80357	0.041000	0.13682	5.222000	0.65277	2.474000	0.83562	0.558000	0.71614	TGC		0.637	LTF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000343951.2	NM_002343		11	56	0	0	0	1	0	11	56					T	46490370	C	T	46490370	3	4	188	1	0	0	0	0	1	0	0	0	9079	710	25	3	972	3	LTF	3	46490370	Missense_Mutation	SNP	C	TCGA-G9-7525-01A-31D-2260-08	9592145	46490370	151532060	12	8772											
PTPRG	5793	broad.mit.edu	37	chr3	62257083	62257083	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagggaaatcccaagggtcGtcagaatgaaagggtagtga	15	6	15	5	1	1	3	1	2	0	1	3	5	2	4	1	3	0	1	1	3	6	1			TCGA-G9-7525-01A-31D-2260-08	TCGA-G9-7525-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e92edf41-954e-46d6-b1ec-63e2d070f16f	476829e1-ad0a-4621-9ec5-7e20e881c540	g.chr3:62257083G>A	ENST00000474889.1	+	21	3412	c.3035G>A	c.(3034-3036)cGt>cAt	p.R1012H	PTPRG-AS1_ENST00000479018.1_RNA|PTPRG-AS1_ENST00000475371.1_RNA|PTPRG-AS1_ENST00000462497.1_RNA|PTPRG-AS1_ENST00000495542.1_RNA|PTPRG-AS1_ENST00000474795.1_RNA|PTPRG_ENST00000295874.10_Missense_Mutation_p.R983H	NM_002841.3	NP_002832.3	P23470	PTPRG_HUMAN	protein tyrosine phosphatase, receptor type, G	1012	Tyrosine-protein phosphatase 1. {ECO:0000255|PROSITE-ProRule:PRU00160}.				brain development (GO:0007420)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of neuron projection development (GO:0010977)|peptidyl-tyrosine dephosphorylation (GO:0035335)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	identical protein binding (GO:0042802)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|liver(2)|lung(15)|ovary(7)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	62				BRCA - Breast invasive adenocarcinoma(55;0.000376)|KIRC - Kidney renal clear cell carcinoma(10;0.0499)|Kidney(10;0.065)		CCCAAGGGTCGTCAGAATGAA	0.468																																						ENST00000474889.1																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|liver(2)|lung(15)|ovary(7)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	62						c.(3034-3036)cGt>cAt		protein tyrosine phosphatase, receptor type, G							89	91	90					3																	62257083		2203	4300	6503	SO:0001583	missense	5793				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	identical protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr3:62257083G>A	L09247	CCDS2895.1	3p21-p14	2013-02-11			ENSG00000144724	ENSG00000144724		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Fibronectin type III domain containing"	9671	protein-coding gene	gene with protein product		176886		PTPG		1711217	Standard	NM_002841		Approved	RPTPG	uc003dlb.3	P23470	OTTHUMG00000158660	ENST00000474889.1:c.3035G>A	3.37:g.62257083G>A	ENSP00000418112:p.Arg1012His					PTPRG-AS1_ENST00000475371.1_RNA|PTPRG-AS1_ENST00000479018.1_RNA|PTPRG-AS1_ENST00000495542.1_RNA|PTPRG_ENST00000295874.10_Missense_Mutation_p.R983H|PTPRG-AS1_ENST00000462497.1_RNA|PTPRG-AS1_ENST00000474795.1_RNA	p.R1012H	NM_002841.3	NP_002832.3	P23470	PTPRG_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000376)|KIRC - Kidney renal clear cell carcinoma(10;0.0499)|Kidney(10;0.065)	21	3412	+			1012			Tyrosine-protein phosphatase 1.		B2RU12|B7ZLX5|Q15623|Q59EE0|Q68DU5	Missense_Mutation	SNP	ENST00000474889.1	37	c.3035G>A	CCDS2895.1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.455017	0.84209	.	.	ENSG00000144724	ENST00000474889;ENST00000295874	T;T	0.11385	2.78;2.78	5.74	5.74	0.90152	Protein-tyrosine phosphatase, receptor/non-receptor type (3);	0.053188	0.64402	D	0.000001	T	0.34135	0.0887	M	0.66506	2.035	0.51482	D	0.999926	P;D;D	0.89917	0.95;0.996;1.0	P;P;D	0.70487	0.467;0.813;0.969	T	0.01345	-1.1379	10	0.87932	D	0	.	19.9111	0.97025	0.0:0.0:1.0:0.0	.	258;983;1012	B7Z3T1;P23470-2;P23470	.;.;PTPRG_HUMAN	H	1012;983	ENSP00000418112:R1012H;ENSP00000295874:R983H	ENSP00000295874:R983H	R	+	2	0	PTPRG	62232123	1.000000	0.71417	0.987000	0.45799	0.968000	0.65278	5.346000	0.65992	2.722000	0.93159	0.591000	0.81541	CGT		0.468	PTPRG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351674.1	NM_002841		6	56	0	0	0	1	0	6	56					A	62257083	G	A	62257083	3	1	188	1	0	0	0	0	1	0	0	0	12802	1145	40	1	3117	1	PTPRG	3	62257083	Missense_Mutation	SNP	G	TCGA-G9-7525-01A-31D-2260-08	15766713	62257083	135765347	13	8773											
YEATS2	55689	broad.mit.edu	37	chr3	183474355	183474355	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aagcccatcaccattgcctcGaaccccgacttccactccag	10	7	5	19	2	1	0	1	0	0	0	4	2	3	0	7	0	3	0	7	0	2	2			TCGA-G9-7525-01A-31D-2260-08	TCGA-G9-7525-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e92edf41-954e-46d6-b1ec-63e2d070f16f	476829e1-ad0a-4621-9ec5-7e20e881c540	g.chr3:183474355G>A	ENST00000305135.5	+	12	1625	c.1430G>A	c.(1429-1431)cGa>cAa	p.R477Q		NM_018023.4	NP_060493.3	Q9ULM3	YETS2_HUMAN	YEATS domain containing 2	477					chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|mitotic spindle (GO:0072686)	TBP-class protein binding (GO:0017025)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(24)|ovary(3)|prostate(2)|skin(3)	49	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		all cancers(12;2.38e-42)|Epithelial(37;1.9e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			CCATTGCCTCGAACCCCGACT	0.433																																						ENST00000305135.5																			0				NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(24)|ovary(3)|prostate(2)|skin(3)	49						c.(1429-1431)cGa>cAa		YEATS domain containing 2							107	111	110					3																	183474355		1919	4115	6034	SO:0001583	missense	55689				histone H3 acetylation|negative regulation of transcription from RNA polymerase II promoter	Ada2/Gcn5/Ada3 transcription activator complex	TBP-class protein binding	g.chr3:183474355G>A	AB033023	CCDS43175.1	3q27.3	2004-08-18			ENSG00000163872	ENSG00000163872			25489	protein-coding gene	gene with protein product		613373				10574462	Standard	NM_018023		Approved	FLJ10201, FLJ12841, FLJ13308, KIAA1197	uc003fly.2	Q9ULM3	OTTHUMG00000156898	ENST00000305135.5:c.1430G>A	3.37:g.183474355G>A	ENSP00000306983:p.Arg477Gln						p.R477Q	NM_018023.4	NP_060493.3	Q9ULM3	YETS2_HUMAN	all cancers(12;2.38e-42)|Epithelial(37;1.9e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)		12	1625	+	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		477					A7E2B9|D3DNS9|Q641P6|Q9NW96	Missense_Mutation	SNP	ENST00000305135.5	37	c.1430G>A	CCDS43175.1	.	.	.	.	.	.	.	.	.	.	G	35	5.554076	0.96501	.	.	ENSG00000163872	ENST00000421660;ENST00000305135	T	0.29397	1.57	5.71	5.71	0.89125	.	0.161252	0.41396	D	0.000885	T	0.37571	0.1008	L	0.27053	0.805	0.54753	D	0.999988	D	0.76494	0.999	P	0.55545	0.778	T	0.03807	-1.1002	10	0.39692	T	0.17	-13.6876	18.0482	0.89340	0.0:0.0:1.0:0.0	.	477	Q9ULM3	YETS2_HUMAN	Q	477	ENSP00000306983:R477Q	ENSP00000306983:R477Q	R	+	2	0	YEATS2	184957049	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.388000	0.73195	2.709000	0.92574	0.655000	0.94253	CGA		0.433	YEATS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346507.2	NM_018023		13	137	0	0	0	1	0	13	137					A	183474355	G	A	183474355	3	1	188	1	0	0	0	0	1	0	0	0	17469	1058	37	2	1472	2	YEATS2	3	183474355	Missense_Mutation	SNP	G	TCGA-G9-7525-01A-31D-2260-08	121217272	183474355	14548075	14	8774											
DHX15	1665	broad.mit.edu	37	chr4	24544582	24544582	+	Frame_Shift_Del	DEL	G	G	-																															ccttctgtttcgcaaatccaGgatcaatcacaaacaccaca																										TCGA-G9-7525-01A-31D-2260-08	TCGA-G9-7525-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e92edf41-954e-46d6-b1ec-63e2d070f16f	476829e1-ad0a-4621-9ec5-7e20e881c540	g.chr4:24544582delG	ENST00000336812.4	-	7	1472	c.1316delC	c.(1315-1317)cctfs	p.P439fs		NM_001358.2	NP_001349.2	O43143	DHX15_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 15	439	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)|U12-type spliceosomal complex (GO:0005689)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724)			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	30		Breast(46;0.0503)				CGCAAATCCAGGATCAATCAC	0.313																																						ENST00000336812.4																			0				breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	30						c.(1315-1317)ctfs		DEAH (Asp-Glu-Ala-His) box helicase 15							128	121	123					4																	24544582		2203	4300	6503	SO:0001589	frameshift_variant	1665				mRNA processing	U12-type spliceosomal complex	ATP binding|ATP-dependent helicase activity|nucleic acid binding|RNA helicase activity	g.chr4:24544582delG	AB001636	CCDS33966.1	4p15.3	2013-05-13	2013-05-13	2003-06-20	ENSG00000109606	ENSG00000109606		"DEAH-boxes"	2738	protein-coding gene	gene with protein product		603403	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 15", "DEAH (Asp-Glu-Ala-His) box polypeptide 15"	DDX15		9388478	Standard	NM_001358		Approved	HRH2, DBP1, PRP43, PrPp43p, PRPF43	uc003gqx.3	O43143	OTTHUMG00000160304	ENST00000336812.4:c.1316delC	4.37:g.24544582delG	ENSP00000336741:p.Pro439fs						p.P439fs	NM_001358.2	NP_001349.2	O43143	DHX15_HUMAN			7	1472	-		Breast(46;0.0503)	439			Helicase C-terminal.		Q9NQT7	Frame_Shift_Del	DEL	ENST00000336812.4	37	c.1316delC	CCDS33966.1																																																																																				0.313	DHX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360143.1	NM_001358		17	107						17	107	---	---	---	---	-	24544582	G	-	24544582	7	5	188	1	0	1	0	1	0	0	0	0	4501	1000	35	0	1103	0	DHX15	4	24544582	Frame_Shift_Del	DEL	G	TCGA-G9-7525-01A-31D-2260-08		24544582	166609694	15	8775											
SPEF2	79925	broad.mit.edu	37	chr5	35692786	35692786	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcagaaaaatgatgaagaagAtgctctaccagttctgcaag	16	9	9	7	0	3	5	1	2	2	3	3	5	3	5	1	0	3	3	1	0	6	2			TCGA-G9-7525-01A-31D-2260-08	TCGA-G9-7525-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e92edf41-954e-46d6-b1ec-63e2d070f16f	476829e1-ad0a-4621-9ec5-7e20e881c540	g.chr5:35692786A>G	ENST00000356031.3	+	12	2013	c.1859A>G	c.(1858-1860)gAt>gGt	p.D620G	SPEF2_ENST00000509059.1_Missense_Mutation_p.D620G|SPEF2_ENST00000440995.2_Missense_Mutation_p.D620G|CTD-2113L7.1_ENST00000510433.1_RNA	NM_024867.3	NP_079143.3	Q9C093	SPEF2_HUMAN	sperm flagellar 2	620					axoneme assembly (GO:0035082)|brain morphogenesis (GO:0048854)|embryonic neurocranium morphogenesis (GO:0048702)|fertilization (GO:0009566)|immune system development (GO:0002520)|multicellular organismal aging (GO:0010259)|respiratory system development (GO:0060541)|spermatogenesis (GO:0007283)	Golgi apparatus (GO:0005794)|manchette (GO:0002177)|sperm midpiece (GO:0097225)				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			GATGAAGAAGATGCTCTACCA	0.393																																						ENST00000440995.2																			0				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37						c.(1858-1860)gAt>gGt		sperm flagellar 2							99	101	101					5																	35692786		1853	4089	5942	SO:0001583	missense	79925				nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity	g.chr5:35692786A>G	AB051557	CCDS3910.1, CCDS43309.1	5p13.2	2010-05-04			ENSG00000152582	ENSG00000152582			26293	protein-coding gene	gene with protein product	"cancer/testis antigen 122"	610172				11214970, 16549801, 17610085	Standard	NM_024867		Approved	KPL2, FLJ23577, CT122	uc003jjo.3	Q9C093	OTTHUMG00000131111	ENST00000356031.3:c.1859A>G	5.37:g.35692786A>G	ENSP00000348314:p.Asp620Gly					SPEF2_ENST00000509059.1_Missense_Mutation_p.D620G|SPEF2_ENST00000356031.3_Missense_Mutation_p.D620G|CTD-2113L7.1_ENST00000510433.1_RNA	p.D620G			Q9C093	SPEF2_HUMAN	Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		12	1859	+	all_lung(31;7.56e-05)		620					Q2TAC9|Q96LL6|Q9H5C7|Q9H5Q7	Missense_Mutation	SNP	ENST00000356031.3	37	c.1859A>G	CCDS43309.1	.	.	.	.	.	.	.	.	.	.	A	6.802	0.517023	0.13005	.	.	ENSG00000152582	ENST00000356031;ENST00000509059;ENST00000440995;ENST00000504054	T;T;T;T	0.30714	3.39;3.29;3.41;1.52	5.09	-0.694	0.11294	.	1.837800	0.02723	N	0.114259	T	0.15825	0.0381	N	0.19112	0.55	0.09310	N	1	B;B;B	0.25904	0.085;0.137;0.085	B;B;B	0.21917	0.026;0.037;0.016	T	0.08027	-1.0742	10	0.14252	T	0.57	.	0.3211	0.00303	0.4279:0.1614:0.1922:0.2184	.	620;620;620	D6REZ4;Q9C093-2;Q9C093	.;.;SPEF2_HUMAN	G	620;620;620;131	ENSP00000348314:D620G;ENSP00000421593:D620G;ENSP00000412125:D620G;ENSP00000421744:D131G	ENSP00000348314:D620G	D	+	2	0	SPEF2	35728543	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	0.636000	0.24644	-0.039000	0.13602	0.477000	0.44152	GAT		0.393	SPEF2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367199.1	NM_144722		3	59	0	0	0	1	0	3	59					G	35692786	A	G	35692786	3	3	188	1	0	0	0	0	1	0	0	0	15034	333	12	4	1926	4	SPEF2	5	35692786	Missense_Mutation	SNP	A	TCGA-G9-7525-01A-31D-2260-08		35692786	145222474	16	8776											
PCDHGA12	26025	broad.mit.edu	37	chr5	140812323	140812323	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctcaccgtggccgtggccgAcagcatcccccaagtcctgg	6	6	12	17	3	1	0	1	0	0	0	3	1	3	0	6	3	1	2	6	3	1	0			TCGA-G9-7525-01A-31D-2260-08	TCGA-G9-7525-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e92edf41-954e-46d6-b1ec-63e2d070f16f	476829e1-ad0a-4621-9ec5-7e20e881c540	g.chr5:140812323A>G	ENST00000252085.3	+	1	2139	c.1997A>G	c.(1996-1998)gAc>gGc	p.D666G	PCDHGA11_ENST00000518882.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA7_ENST00000518325.1_Intron	NM_003735.2|NM_032094.1	NP_003726.1|NP_115265.1	O60330	PCDGC_HUMAN	protocadherin gamma subfamily A, 12	666	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(23)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	58			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCCGTGGCCGACAGCATCCCC	0.662																																						ENST00000252085.3																			0				breast(2)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(23)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	58						c.(1996-1998)gAc>gGc									53	62	59					5																	140812323		2203	4300	6503	SO:0001583	missense	0							g.chr5:140812323A>G	AF152506	CCDS4260.1, CCDS75346.1	5q31	2010-01-26	2002-05-23		ENSG00000253159	ENSG00000253159		"Cadherins / Protocadherins : Clustered"	8699	other	protocadherin	"fibroblast cadherin FIB3"	603059	"cadherin 21"	CDH21		10380929	Standard	NM_003735		Approved	KIAA0588, FIB3, PCDH-GAMMA-A12		O60330	OTTHUMG00000129611	ENST00000252085.3:c.1997A>G	5.37:g.140812323A>G	ENSP00000252085:p.Asp666Gly					PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA6_ENST00000517434.1_Intron	p.D666G	NM_003735.2|NM_032094.1	NP_003726.1|NP_115265.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2139	+								O15100|Q6UW70|Q9Y5D7	Missense_Mutation	SNP	ENST00000252085.3	37	c.1997A>G	CCDS4260.1	.	.	.	.	.	.	.	.	.	.	a	15.09	2.729093	0.48833	.	.	ENSG00000253159	ENST00000252085	D	0.85013	-1.93	5.1	5.1	0.69264	Cadherin (3);Cadherin-like (1);	.	.	.	.	D	0.92987	0.7768	M	0.90252	3.1	0.35202	D	0.774381	D;P	0.63880	0.993;0.942	D;P	0.64595	0.927;0.858	D	0.97093	0.9792	9	0.87932	D	0	.	14.842	0.70233	1.0:0.0:0.0:0.0	.	666;666	O60330-2;O60330	.;PCDGC_HUMAN	G	666	ENSP00000252085:D666G	ENSP00000252085:D666G	D	+	2	0	PCDHGA12	140792507	1.000000	0.71417	0.982000	0.44146	0.020000	0.10135	9.035000	0.93752	2.038000	0.60285	0.459000	0.35465	GAC		0.662	PCDHGA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251806.2	NM_003735		4	115	0	0	0	1	0	4	115					G	140812323	A	G	140812323	3	3	188	1	0	0	0	0	1	0	0	0	11553	275	10	4	1999	4	PCDHGA12	5	140812323	Missense_Mutation	SNP	A	TCGA-G9-7525-01A-31D-2260-08	105119537	140812323	40102937	17	8777											
SYNPO	11346	broad.mit.edu	37	chr5	150029062	150029062	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggatgagaagcggcggcagAgggaccagggggaggtaggc	10	2	22	7	3	0	2	0	1	0	2	0	6	0	5	1	8	1	2	1	8	2	1			TCGA-G9-7525-01A-31D-2260-08	TCGA-G9-7525-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e92edf41-954e-46d6-b1ec-63e2d070f16f	476829e1-ad0a-4621-9ec5-7e20e881c540	g.chr5:150029062A>C	ENST00000394243.1	+	3	2331	c.1957A>C	c.(1957-1959)Agg>Cgg	p.R653R	SYNPO_ENST00000307662.4_Silent_p.R409R|SYNPO_ENST00000519664.1_Silent_p.R409R|SYNPO_ENST00000522122.1_Silent_p.R653R	NM_001166208.1	NP_001159680.1	Q8N3V7	SYNPO_HUMAN	synaptopodin	653					positive regulation of actin filament bundle assembly (GO:0032233)|regulation of stress fiber assembly (GO:0051492)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|postsynaptic membrane (GO:0045211)|stress fiber (GO:0001725)|tight junction (GO:0005923)	actin binding (GO:0003779)			NS(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(4)|prostate(1)|urinary_tract(2)	18		Medulloblastoma(196;0.134)|all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GCGGCGGCAGAGGGACCAGGG	0.632																																						ENST00000394243.1																			0				NS(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(4)|prostate(1)|urinary_tract(2)	18						c.(1957-1959)Agg>Cgg		synaptopodin							19	22	21					5																	150029062		2203	4298	6501	SO:0001819	synonymous_variant	11346				positive regulation of actin filament bundle assembly|regulation of stress fiber assembly	actin cytoskeleton|cytoplasm|dendritic spine|perikaryon|postsynaptic density|postsynaptic membrane|tight junction	actin binding|protein binding	g.chr5:150029062A>C	AF499137	CCDS4308.1, CCDS54937.1, CCDS54938.1	5q33.1	2008-02-05			ENSG00000171992	ENSG00000171992			30672	protein-coding gene	gene with protein product		608155				9314539, 10470851	Standard	NM_007286		Approved	KIAA1029	uc003lsn.3	Q8N3V7	OTTHUMG00000130078	ENST00000394243.1:c.1957A>C	5.37:g.150029062A>C						SYNPO_ENST00000307662.4_Silent_p.R409R|SYNPO_ENST00000519664.1_Silent_p.R409R|SYNPO_ENST00000522122.1_Silent_p.R653R	p.R653R	NM_001166208.1	NP_001159680.1	Q8N3V7	SYNPO_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		3	2331	+		Medulloblastoma(196;0.134)|all_hematologic(541;0.224)	653					A5PKZ8|D3DQG8|O15271|Q9UPX1	Silent	SNP	ENST00000394243.1	37	c.1957A>C	CCDS54937.1																																																																																				0.632	SYNPO-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252371.1	NM_007286		9	18	0	0	0	1	0	9	18					C	150029062	A	C	150029062	2	2	188	1	0	0	0	0	0	0	0	1	15453	295	11	5		5	SYNPO	5	150029062	Silent	SNP	A	TCGA-G9-7525-01A-31D-2260-08	9216739	150029062	30886198	18	8778											
VARS2	57176	broad.mit.edu	37	chr6	30882973	30882975	+	In_Frame_Del	DEL	TAG	TAG	-																															ggcctggaggcctaaggagtTagtattgtatgaaatcccta																										TCGA-G9-7525-01A-31D-2260-08	TCGA-G9-7525-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e92edf41-954e-46d6-b1ec-63e2d070f16f	476829e1-ad0a-4621-9ec5-7e20e881c540	g.chr6:30882973_30882975delTAG	ENST00000321897.5	+	2	874_876	c.242_244delTAG	c.(241-246)ttagta>tta	p.V82del	VARS2_ENST00000416670.2_In_Frame_Del_p.V82del|VARS2_ENST00000541562.1_In_Frame_Del_p.V112del|VARS2_ENST00000542001.1_5'UTR			Q5ST30	SYVM_HUMAN	valyl-tRNA synthetase 2, mitochondrial	82					gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)|valyl-tRNA aminoacylation (GO:0006438)	mitochondrion (GO:0005739)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|valine-tRNA ligase activity (GO:0004832)			central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(3)|prostate(3)|skin(4)|urinary_tract(1)	46						CCTAAGGAGTTAGTATTGTATGA	0.468																																						ENST00000321897.5																			0				central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(3)|prostate(3)|skin(4)|urinary_tract(1)	46						c.(241-246)tta>t		valyl-tRNA synthetase 2, mitochondrial																																				SO:0001651	inframe_deletion	57176				valyl-tRNA aminoacylation	mitochondrion	ATP binding|valine-tRNA ligase activity	g.chr6:30882973_30882975delTAG	AB067472	CCDS34387.1, CCDS54980.1	6p21.33	2012-10-26	2012-10-26	2007-02-23	ENSG00000137411	ENSG00000137411	6.1.1.9	"Aminoacyl tRNA synthetases / Class I"	21642	protein-coding gene	gene with protein product	"valine tRNA ligase 2, mitochondrial"	612802	"valyl-tRNA synthetase 2-like", "valyl-tRNA synthetase like", "valyl-tRNA synthetase 2, mitochondrial (putative)"	VARS2L, VARSL		1898367, 11572484, 18400783	Standard	NM_001167734		Approved	DKFZP434L1435, KIAA1885, G7a	uc011dmz.2	Q5ST30	OTTHUMG00000031263	ENST00000321897.5:c.242_244delTAG	6.37:g.30882973_30882975delTAG	ENSP00000316092:p.Val82del					VARS2_ENST00000416670.2_In_Frame_Del_p.LV81del|VARS2_ENST00000542001.1_5'UTR|VARS2_ENST00000541562.1_In_Frame_Del_p.LV111del	p.LV81del			Q5ST30	SYVM_HUMAN			2	874_876	+			81					A2ABL7|B4DET4|B4E3P5|F5GXJ0|F5H323|Q2M2A0|Q59FI1|Q5SQ96|Q5SS98|Q6DKJ5|Q6ZV24|Q96GN2|Q96H77|Q96Q02|Q9H6R2|Q9UFH7	In_Frame_Del	DEL	ENST00000321897.5	37	c.242_244delTAG	CCDS34387.1																																																																																				0.468	VARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076566.2	NM_020442		20	79						20	79	---	---	---	---	-	30882975	TAG	-	30882973	7	5	188	1	0	1	0	1	0	0	0	0	17121	1764	61	0	342	0	VARS2	6	30882973	In_Frame_Del	DEL	TAG	TCGA-G9-7525-01A-31D-2260-08		30882973	140232094	19	8779											
CUTA	51596	broad.mit.edu	37	chr6	33384486	33384486	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gacctggcgcacccactgcaGgtacggaaagttcccctgtt	8	8	11	14	2	0	0	0	0	0	0	1	2	1	1	4	3	2	5	4	3	2	3			TCGA-G9-7525-01A-31D-2260-08	TCGA-G9-7525-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e92edf41-954e-46d6-b1ec-63e2d070f16f	476829e1-ad0a-4621-9ec5-7e20e881c540	g.chr6:33384486G>A	ENST00000488034.1	-	6	602	c.481C>T	c.(481-483)Ctg>Ttg	p.L161L	CUTA_ENST00000492510.1_5'Flank|CUTA_ENST00000374500.5_Silent_p.L180L|CUTA_ENST00000607266.1_Silent_p.L138L|CUTA_ENST00000440279.3_Silent_p.L138L|CUTA_ENST00000488478.1_Missense_Mutation_p.P144L|CUTA_ENST00000494751.1_Intron|CUTA_ENST00000374496.3_Silent_p.L138L	NM_001014837.1|NM_001014838.1|NM_001014840.1|NM_015921.2	NP_001014837.1|NP_001014838.1|NP_001014840.1|NP_057005.1	O60888	CUTA_HUMAN	cutA divalent cation tolerance homolog (E. coli)	161					protein localization (GO:0008104)|response to metal ion (GO:0010038)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	enzyme binding (GO:0019899)		SLC22A1/CUTA(2)	kidney(1)|lung(3)|urinary_tract(1)	5						ACCCACTGCAGGTACGGAAAG	0.537																																						ENST00000488478.1																		SLC22A1/CUTA(2)	0				kidney(1)|lung(3)|urinary_tract(1)	5						c.(430-432)cCt>cTt		cutA divalent cation tolerance homolog (E. coli)							116	98	104					6																	33384486		2203	4300	6503	SO:0001819	synonymous_variant	51596				protein localization|response to metal ion	membrane	enzyme binding	g.chr6:33384486G>A	AF106943	CCDS4779.1, CCDS34432.1, CCDS34433.1	6p21.32	2008-02-04	2006-02-15	2006-02-15	ENSG00000112514	ENSG00000112514			21101	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 82", "acetylcholinesterase-associated protein"	C6orf82, ACHAP			Standard	XM_006715108		Approved		uc003oen.1	O60888	OTTHUMG00000031254	ENST00000488034.1:c.481C>T	6.37:g.33384486G>A						CUTA_ENST00000607266.1_Silent_p.L138L|CUTA_ENST00000494751.1_Intron|CUTA_ENST00000488034.1_Silent_p.L161L|CUTA_ENST00000374500.5_Silent_p.L180L|CUTA_ENST00000440279.3_Silent_p.L138L|CUTA_ENST00000374496.3_Silent_p.L138L	p.P144L			O60888	CUTA_HUMAN			5	516	-			0					A2AB26|A2BEL4|Q3B784|Q5JXM9|Q5SU05|Q9NYQ9	Missense_Mutation	SNP	ENST00000488034.1	37	c.431C>T	CCDS34433.1	.	.	.	.	.	.	.	.	.	.	G	6.967	0.548375	0.13312	.	.	ENSG00000112514	ENST00000488478	.	.	.	4.98	2.27	0.28462	.	.	.	.	.	T	0.39462	0.1079	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.22661	-1.0210	4	.	.	.	-13.6706	6.7242	0.23346	0.2888:0.0:0.7112:0.0	.	.	.	.	L	144	.	.	P	-	2	0	CUTA	33492464	1.000000	0.71417	0.435000	0.26784	0.265000	0.26407	4.980000	0.63812	0.301000	0.22738	-0.136000	0.14681	CCT		0.537	CUTA-008	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000076541.3	NM_015921		3	58	0	0	0	1	0	3	58					A	33384486	G	A	33384486	2	1	188	1	0	0	0	0	0	0	0	1	4062	991	35	3		3	CUTA	6	33384486	Silent	SNP	G	TCGA-G9-7525-01A-31D-2260-08	2501513	33384486	137730581	20	8780											
RHAG	6005	broad.mit.edu	37	chr6	49580195	49580195	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atgggtgaattgccatatccGcacaagtgcccacagcaact	12	8	9	12	1	0	1	0	1	0	0	1	1	1	1	3	1	4	2	3	1	4	2			TCGA-G9-7525-01A-31D-2260-08	TCGA-G9-7525-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e92edf41-954e-46d6-b1ec-63e2d070f16f	476829e1-ad0a-4621-9ec5-7e20e881c540	g.chr6:49580195G>A	ENST00000371175.4	-	6	886	c.860C>T	c.(859-861)gCg>gTg	p.A287V	RHAG_ENST00000229810.7_Missense_Mutation_p.A287V	NM_000324.2	NP_000315.2	Q02094	RHAG_HUMAN	Rh-associated glycoprotein	287					ammonium transmembrane transport (GO:0072488)|ammonium transport (GO:0015696)|bicarbonate transport (GO:0015701)|carbon dioxide transport (GO:0015670)|cellular ion homeostasis (GO:0006873)|erythrocyte development (GO:0048821)|multicellular organismal iron ion homeostasis (GO:0060586)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ammonium transmembrane transporter activity (GO:0008519)|ankyrin binding (GO:0030506)			NS(1)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	39	Lung NSC(77;0.0255)					TGCCATATCCGCACAAGTGCC	0.473																																					Ovarian(176;476 2003 7720 43408 44749)	ENST00000371175.4																			0				NS(1)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	39						c.(859-861)gCg>gTg		Rh-associated glycoprotein							112	93	100					6																	49580195		2203	4300	6503	SO:0001583	missense	6005				carbon dioxide transport|cellular ion homeostasis	integral to plasma membrane	ammonia transmembrane transporter activity|ammonium transmembrane transporter activity|ankyrin binding	g.chr6:49580195G>A		CCDS4927.1	6p12.3	2014-07-19	2006-02-23		ENSG00000112077	ENSG00000112077		"CD molecules", "Blood group antigens", "Solute carriers"	10006	protein-coding gene	gene with protein product		180297	"Rhesus blood group-associated glycoprotein"			9479501	Standard	NM_000324		Approved	RH50A, CD241, SLC42A1	uc003ozk.4	Q02094	OTTHUMG00000016377	ENST00000371175.4:c.860C>T	6.37:g.49580195G>A	ENSP00000360217:p.Ala287Val					RHAG_ENST00000229810.7_Missense_Mutation_p.A287V	p.A287V	NM_000324.2	NP_000315.2	Q02094	RHAG_HUMAN			6	886	-	Lung NSC(77;0.0255)		287					B2R8T8|O43514|O43515|Q7L8L3|Q9H454	Missense_Mutation	SNP	ENST00000371175.4	37	c.860C>T	CCDS4927.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.973180	0.74246	.	.	ENSG00000112077	ENST00000371175;ENST00000229810;ENST00000418071;ENST00000539403	T;T	0.29917	1.55;1.55	5.54	5.54	0.83059	Ammonium transporter AmtB-like (3);	0.000000	0.85682	D	0.000000	T	0.54838	0.1883	M	0.84511	2.7	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.999	D;D;P	0.75020	0.98;0.985;0.877	T	0.59857	-0.7375	10	0.56958	D	0.05	-17.0245	18.4694	0.90767	0.0:0.0:1.0:0.0	.	287;287;287	O43515;Q9UHG9;Q02094	.;.;RHAG_HUMAN	V	287	ENSP00000360217:A287V;ENSP00000229810:A287V	ENSP00000229810:A287V	A	-	2	0	RHAG	49688154	1.000000	0.71417	0.972000	0.41901	0.473000	0.32948	7.876000	0.87215	2.600000	0.87896	0.655000	0.94253	GCG		0.473	RHAG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043806.1			3	70	0	0	0	1	0	3	70					A	49580195	G	A	49580195	3	1	188	1	0	0	0	0	1	0	0	0	13315	1087	38	1	389	1	RHAG	6	49580195	Missense_Mutation	SNP	G	TCGA-G9-7525-01A-31D-2260-08	16195709	49580195	121534872	21	8781											
TMEM195	392636	broad.mit.edu	37	chr7	15430468	15430468	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	taatacattttacttaccaaAaattttatcccaaataataa	19	15	0	7	0	0	0	0	0	0	0	1	0	1	0	2	0	3	0	2	0	10	9			TCGA-G9-7525-01A-31D-2260-08	TCGA-G9-7525-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e92edf41-954e-46d6-b1ec-63e2d070f16f	476829e1-ad0a-4621-9ec5-7e20e881c540	g.chr7:15430468A>G	ENST00000342526.3	-	7	908	c.739T>C	c.(739-741)Ttt>Ctt	p.F247L		NM_001004320.1	NP_001004320.1	Q6ZNB7	ALKMO_HUMAN	alkylglycerol monooxygenase	247					ether lipid metabolic process (GO:0046485)|fatty acid biosynthetic process (GO:0006633)|membrane lipid metabolic process (GO:0006643)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glyceryl-ether monooxygenase activity (GO:0050479)|iron ion binding (GO:0005506)			breast(1)|kidney(1)|large_intestine(6)|liver(1)|lung(30)|prostate(1)|skin(2)	42						TACTTACCAAAAATTTTATCC	0.259																																						ENST00000342526.3																			0				breast(1)|kidney(1)|large_intestine(6)|liver(1)|lung(30)|prostate(1)|skin(2)	42						c.(739-741)Ttt>Ctt		alkylglycerol monooxygenase							32	36	34					7																	15430468		2179	4271	6450	SO:0001583	missense	392636				ether lipid metabolic process|fatty acid biosynthetic process|membrane lipid metabolic process	endoplasmic reticulum membrane|integral to membrane	glyceryl-ether monooxygenase activity|iron ion binding	g.chr7:15430468A>G		CCDS34604.1	7p21.1	2013-03-04	2011-01-31	2011-01-31	ENSG00000187546	ENSG00000187546	1.14.16.5	"Fatty acid hydroxylase domain containing"	33784	protein-coding gene	gene with protein product		613738	"transmembrane protein 195"	TMEM195		20643956	Standard	NM_001004320		Approved	FLJ16237	uc003stb.1	Q6ZNB7	OTTHUMG00000152387	ENST00000342526.3:c.739T>C	7.37:g.15430468A>G	ENSP00000341662:p.Phe247Leu						p.F247L	NM_001004320.1	NP_001004320.1	Q6ZNB7	ALKMO_HUMAN			7	908	-			247					A4D114|A6NCH5	Missense_Mutation	SNP	ENST00000342526.3	37	c.739T>C	CCDS34604.1	.	.	.	.	.	.	.	.	.	.	A	26.4	4.737130	0.89482	.	.	ENSG00000187546	ENST00000342526	T	0.68903	-0.36	5.33	5.33	0.75918	.	0.000000	0.85682	D	0.000000	D	0.83133	0.5188	M	0.90019	3.08	0.58432	D	0.999997	D	0.60575	0.988	P	0.61003	0.882	D	0.86917	0.2064	10	0.66056	D	0.02	.	15.5854	0.76479	1.0:0.0:0.0:0.0	.	247	Q6ZNB7	ALKMO_HUMAN	L	247	ENSP00000341662:F247L	ENSP00000341662:F247L	F	-	1	0	AGMO	15396993	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.994000	0.88315	2.139000	0.66308	0.482000	0.46254	TTT		0.259	AGMO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326049.2	NM_001004320		4	13	0	0	0	1	0	4	13					G	15430468	A	G	15430468	3	3	188	1	0	0	0	0	1	0	0	0	16114	14	1	4	626	4	TMEM195	7	15430468	Missense_Mutation	SNP	A	TCGA-G9-7525-01A-31D-2260-08		15430468	143708195	22	8782											
C7orf31	136895	broad.mit.edu	37	chr7	25176304	25176304	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtacaatctggacaggaacGtggtctttgctggactatag	11	11	12	7	1	2	0	0	0	2	0	2	3	2	3	0	4	3	2	0	4	5	4			TCGA-G9-7525-01A-31D-2260-08	TCGA-G9-7525-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e92edf41-954e-46d6-b1ec-63e2d070f16f	476829e1-ad0a-4621-9ec5-7e20e881c540	g.chr7:25176304G>A	ENST00000409280.1	-	10	1368	c.1060C>T	c.(1060-1062)Cgt>Tgt	p.R354C	C7orf31_ENST00000283905.3_Missense_Mutation_p.R354C			Q8N865	CG031_HUMAN	chromosome 7 open reading frame 31	354										autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|skin(2)|stomach(1)	14						GGACAGGAACGTGGTCTTTGC	0.458																																						ENST00000409280.1																			0				autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|skin(2)|stomach(1)	14						c.(1060-1062)Cgt>Tgt		chromosome 7 open reading frame 31							117	120	119					7																	25176304		2203	4300	6503	SO:0001583	missense	136895							g.chr7:25176304G>A	AK097248	CCDS5394.1	7p15.2	2011-11-24			ENSG00000153790	ENSG00000153790			21722	protein-coding gene	gene with protein product							Standard	NM_138811		Approved		uc003sxn.1	Q8N865	OTTHUMG00000128497	ENST00000409280.1:c.1060C>T	7.37:g.25176304G>A	ENSP00000386604:p.Arg354Cys					C7orf31_ENST00000283905.3_Missense_Mutation_p.R354C	p.R354C			Q8N865	CG031_HUMAN			10	1368	-			354					A4D165|Q6MZV8|Q6P989|Q7LE28|Q86XK1|Q8N1H5|Q96BN4	Missense_Mutation	SNP	ENST00000409280.1	37	c.1060C>T	CCDS5394.1	.	.	.	.	.	.	.	.	.	.	G	4.704	0.130914	0.08981	.	.	ENSG00000153790	ENST00000409280;ENST00000283905	T;T	0.05996	3.36;3.36	5.75	0.495	0.16890	.	1.150600	0.06146	N	0.673264	T	0.02571	0.0078	N	0.03608	-0.345	0.09310	N	1	P	0.49358	0.923	B	0.38712	0.28	T	0.22765	-1.0207	10	0.54805	T	0.06	-4.808	1.6533	0.02776	0.1607:0.1325:0.4018:0.305	.	354	Q8N865	CG031_HUMAN	C	354	ENSP00000386604:R354C;ENSP00000283905:R354C	ENSP00000283905:R354C	R	-	1	0	C7orf31	25142829	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.318000	0.19504	-0.195000	0.10382	-0.218000	0.12543	CGT		0.458	C7orf31-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326929.1	NM_138811		3	116	0	0	0	1	0	3	116					A	25176304	G	A	25176304	3	1	188	1	0	0	0	0	1	0	0	0	2387	1145	40	1	716	1	C7orf31	7	25176304	Missense_Mutation	SNP	G	TCGA-G9-7525-01A-31D-2260-08	9745836	25176304	133962359	23	8783											
PIK3CG	5294	broad.mit.edu	37	chr7	106513199	106513199	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgttttggttcttgagaagTgagatagcccagtccagaca	10	13	11	7	0	1	3	0	2	1	3	2	5	2	3	2	1	1	2	2	1	2	6			TCGA-G9-7525-01A-31D-2260-08	TCGA-G9-7525-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e92edf41-954e-46d6-b1ec-63e2d070f16f	476829e1-ad0a-4621-9ec5-7e20e881c540	g.chr7:106513199T>C	ENST00000359195.3	+	4	2413	c.2103T>C	c.(2101-2103)agT>agC	p.S701S	PIK3CG_ENST00000440650.2_Silent_p.S701S|PIK3CG_ENST00000496166.1_Silent_p.S701S	NM_001282427.1|NM_002649.2	NP_001269356.1|NP_002640.2	P48736	PK3CG_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma	701	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.				adaptive immune response (GO:0002250)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cytokine production (GO:0001816)|dendritic cell chemotaxis (GO:0002407)|endocytosis (GO:0006897)|G-protein coupled receptor signaling pathway (GO:0007186)|hepatocyte apoptotic process (GO:0097284)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|mast cell degranulation (GO:0043303)|natural killer cell chemotaxis (GO:0035747)|negative regulation of cardiac muscle contraction (GO:0055118)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of triglyceride catabolic process (GO:0010897)|neutrophil chemotaxis (GO:0030593)|neutrophil extravasation (GO:0072672)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of cell adhesion mediated by integrin (GO:0033628)|respiratory burst involved in defense response (GO:0002679)|secretory granule localization (GO:0032252)|small molecule metabolic process (GO:0044281)|T cell activation (GO:0042110)|T cell chemotaxis (GO:0010818)|T cell proliferation (GO:0042098)	1-phosphatidylinositol-4-phosphate 3-kinase, class IB complex (GO:0005944)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|mast cell granule (GO:0042629)|membrane (GO:0016020)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|ephrin receptor binding (GO:0046875)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						TCTTGAGAAGTGAGATAGCCC	0.448																																						ENST00000359195.3																			0				breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						c.(2101-2103)agT>agC		phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma							109	108	109					7																	106513199		2203	4300	6503	SO:0001819	synonymous_variant	5294				G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding	g.chr7:106513199T>C		CCDS5739.1	7q22	2012-07-13	2012-07-13		ENSG00000105851	ENSG00000105851	2.7.1.153		8978	protein-coding gene	gene with protein product		601232	"phosphoinositide-3-kinase, catalytic, gamma polypeptide"				Standard	XM_005250443		Approved		uc003vdw.3	P48736	OTTHUMG00000157641	ENST00000359195.3:c.2103T>C	7.37:g.106513199T>C						PIK3CG_ENST00000440650.2_Silent_p.S701S|PIK3CG_ENST00000496166.1_Silent_p.S701S	p.S701S	NM_002649.2	NP_002640.2	P48736	PK3CG_HUMAN			4	2413	+			701					A4D0Q6|Q8IV23|Q9BZC8	Silent	SNP	ENST00000359195.3	37	c.2103T>C	CCDS5739.1																																																																																				0.448	PIK3CG-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349294.1			23	36	0	0	0	1	0	23	36					C	106513199	T	C	106513199	2	2	188	1	0	0	0	0	0	0	0	1	11916	1693	59	4		4	PIK3CG	7	106513199	Silent	SNP	T	TCGA-G9-7525-01A-31D-2260-08	81336895	106513199	52625464	24	8784											
TTC26	79989	broad.mit.edu	37	chr7	138851601	138851601	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttcagatgatgtacaagaagCttataacttaattaaggatc	16	13	7	5	0	1	3	1	1	0	2	2	4	1	4	0	1	3	2	0	1	7	6			TCGA-G9-7525-01A-31D-2260-08	TCGA-G9-7525-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e92edf41-954e-46d6-b1ec-63e2d070f16f	476829e1-ad0a-4621-9ec5-7e20e881c540	g.chr7:138851601C>T	ENST00000464848.1	+	10	991	c.911C>T	c.(910-912)gCt>gTt	p.A304V	TTC26_ENST00000495038.1_Missense_Mutation_p.A173V|TTC26_ENST00000430935.1_Missense_Mutation_p.A304V|TTC26_ENST00000478836.2_Missense_Mutation_p.A197V|TTC26_ENST00000343187.4_Missense_Mutation_p.A273V|TTC26_ENST00000481482.1_3'UTR			A0AVF1	TTC26_HUMAN	tetratricopeptide repeat domain 26	304					cilium assembly (GO:0042384)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|intraciliary transport particle B (GO:0030992)|primary cilium (GO:0072372)				breast(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	24						GTACAAGAAGCTTATAACTTA	0.348																																						ENST00000464848.1																			0				breast(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	24						c.(910-912)gCt>gTt		tetratricopeptide repeat domain 26							104	106	105					7																	138851601		2202	4299	6501	SO:0001583	missense	79989						binding	g.chr7:138851601C>T	AK022633	CCDS5852.1, CCDS55172.1, CCDS55173.1, CCDS75665.1	7q34	2013-01-11			ENSG00000105948	ENSG00000105948		"Intraflagellar transport homologs", "Tetratricopeptide (TTC) repeat domain containing"	21882	protein-coding gene	gene with protein product							Standard	NM_001144920		Approved	FLJ12571, dyf-13, DYF13	uc003vus.2	A0AVF1	OTTHUMG00000157472	ENST00000464848.1:c.911C>T	7.37:g.138851601C>T	ENSP00000419279:p.Ala304Val					TTC26_ENST00000481482.1_3'UTR|TTC26_ENST00000495038.1_Missense_Mutation_p.A173V|TTC26_ENST00000478836.2_Missense_Mutation_p.A197V|TTC26_ENST00000430935.1_Missense_Mutation_p.A304V|TTC26_ENST00000343187.4_Missense_Mutation_p.A273V	p.A304V			A0AVF1	TTC26_HUMAN			10	991	+			304					A4D1S3|B7Z5M0|C9J2N7|F8W724|Q9H9S8|Q9NTC0	Missense_Mutation	SNP	ENST00000464848.1	37	c.911C>T	CCDS5852.1	.	.	.	.	.	.	.	.	.	.	C	24.5	4.535021	0.85812	.	.	ENSG00000105948	ENST00000430935;ENST00000495038;ENST00000478836;ENST00000464848;ENST00000343187	T;T;T;T;T	0.73047	0.95;0.95;0.82;0.95;-0.71	5.74	4.84	0.62591	Tetratricopeptide-like helical (1);	0.056069	0.64402	D	0.000001	D	0.87581	0.6213	M	0.92555	3.32	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.988;1.0;0.999;1.0	D;P;D;D;D	0.97110	0.994;0.844;0.996;0.991;1.0	D	0.90694	0.4615	10	0.87932	D	0	.	15.4643	0.75387	0.0:0.8604:0.1396:0.0	.	173;273;304;304;273	B7Z2T3;F8W724;C9J2N7;A0AVF1;B7Z5M0	.;.;.;TTC26_HUMAN;.	V	304;173;197;304;273	ENSP00000410655:A304V;ENSP00000418788:A173V;ENSP00000419178:A197V;ENSP00000419279:A304V;ENSP00000339135:A273V	ENSP00000339135:A273V	A	+	2	0	TTC26	138502141	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.779000	0.75057	1.359000	0.45940	0.650000	0.86243	GCT		0.348	TTC26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348919.2	NM_024926		5	56	0	0	0	1	0	5	56					T	138851601	C	T	138851601	3	4	188	1	0	0	0	0	1	0	0	0	16691	797	28	3	949	3	TTC26	7	138851601	Missense_Mutation	SNP	C	TCGA-G9-7525-01A-31D-2260-08	32338402	138851601	20287062	25	8785											
EIF2C2	27161	broad.mit.edu	37	chr8	141567248	141567248	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tgtaaacatgggaggtggggGtagcgcagaaccaacttgtg	11	8	16	6	1	0	1	0	0	0	1	0	2	0	2	1	4	4	3	1	4	5	3			TCGA-G9-7525-01A-31D-2260-08	TCGA-G9-7525-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e92edf41-954e-46d6-b1ec-63e2d070f16f	476829e1-ad0a-4621-9ec5-7e20e881c540	g.chr8:141567248G>A	ENST00000220592.5	-	8	1078	c.966C>T	c.(964-966)taC>taT	p.Y322Y	AGO2_ENST00000519980.1_Silent_p.Y322Y	NM_012154.3	NP_036286.2	Q9UKV8	AGO2_HUMAN	argonaute RISC catalytic component 2	322	PAZ. {ECO:0000255|HAMAP-Rule:MF_03031}.				epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|innate immune response (GO:0045087)|mRNA cleavage involved in gene silencing by miRNA (GO:0035279)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|negative regulation of translational initiation (GO:0045947)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|post-embryonic development (GO:0009791)|pre-miRNA processing (GO:0031054)|regulation of transcription, DNA-templated (GO:0006355)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|transcription, DNA-templated (GO:0006351)|translation (GO:0006412)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|membrane (GO:0016020)|micro-ribonucleoprotein complex (GO:0035068)|mRNA cap binding complex (GO:0005845)|nucleus (GO:0005634)|polysome (GO:0005844)|ribonucleoprotein complex (GO:0030529)|RISC complex (GO:0016442)	endoribonuclease activity (GO:0004521)|endoribonuclease activity, cleaving siRNA-paired mRNA (GO:0070551)|metal ion binding (GO:0046872)|miRNA binding (GO:0035198)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|RNA 7-methylguanosine cap binding (GO:0000340)|siRNA binding (GO:0035197)|translation initiation factor activity (GO:0003743)										GGAGGTGGGGGTAGCGCAGAA	0.587																																						ENST00000220592.5																			0											c.(964-966)taC>taT		argonaute RISC catalytic component 2							165	159	161					8																	141567248		2203	4300	6503	SO:0001819	synonymous_variant	27161							g.chr8:141567248G>A	AF121255	CCDS6380.1, CCDS55279.1	8q24.3	2013-02-15	2013-02-15	2013-02-15	ENSG00000123908	ENSG00000123908		"Argonaute/PIWI family"	3263	protein-coding gene	gene with protein product	"argonaute 2"	606229	"eukaryotic translation initiation factor 2C, 2"	EIF2C2		10534406, 12906857	Standard	NM_012154		Approved	hAGO2, Q10	uc003yvn.3	Q9UKV8	OTTHUMG00000164232	ENST00000220592.5:c.966C>T	8.37:g.141567248G>A						AGO2_ENST00000519980.1_Silent_p.Y322Y	p.Y322Y	NM_012154.3	NP_036286.2					8	1078	-								Q8TCZ5|Q8WV58|Q96ID1	Silent	SNP	ENST00000220592.5	37	c.966C>T	CCDS6380.1																																																																																				0.587	AGO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377866.4			4	184	0	0	0	1	0	4	184					A	141567248	G	A	141567248	2	1	188	1	0	0	0	0	0	0	0	1	5006	1256	44	3		3	EIF2C2	8	141567248	Silent	SNP	G	TCGA-G9-7525-01A-31D-2260-08		141567248	4796774	26	8786											
C9orf41	138199	broad.mit.edu	37	chr9	77599836	77599836	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ttcttacctctaccttgaatCcatactgcagaacaacgttt	11	14	4	12	1	2	2	0	1	2	1	3	2	3	2	3	0	6	2	3	0	6	6			TCGA-G9-7525-01A-31D-2260-08	TCGA-G9-7525-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e92edf41-954e-46d6-b1ec-63e2d070f16f	476829e1-ad0a-4621-9ec5-7e20e881c540	g.chr9:77599836C>T	ENST00000376834.3	-	7	1267	c.1115G>A	c.(1114-1116)gGa>gAa	p.G372E	RP11-197P3.4_ENST00000455609.1_RNA|C9orf41_ENST00000376837.3_3'UTR	NM_152420.1	NP_689633.1	Q8N4J0	CI041_HUMAN	chromosome 9 open reading frame 41	372										endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|skin(1)|urinary_tract(2)	17						TACCTTGAATCCATACTGCAG	0.368																																						ENST00000376834.3																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|skin(1)|urinary_tract(2)	17						c.(1114-1116)gGa>gAa		chromosome 9 open reading frame 41							157	146	150					9																	77599836		2203	4300	6503	SO:0001583	missense	138199							g.chr9:77599836C>T	AK098661	CCDS6649.1	9q21.31	2012-03-15			ENSG00000156017	ENSG00000156017			23435	protein-coding gene	gene with protein product						12477932	Standard	NM_152420		Approved	FLJ25795	uc004ajq.3	Q8N4J0	OTTHUMG00000020032	ENST00000376834.3:c.1115G>A	9.37:g.77599836C>T	ENSP00000366030:p.Gly372Glu					C9orf41_ENST00000376837.3_3'UTR|RP11-197P3.4_ENST00000455609.1_RNA	p.G372E	NM_152420.1	NP_689633.1	Q8N4J0	CI041_HUMAN			7	1267	-			372					Q7Z383|Q8N7C5	Missense_Mutation	SNP	ENST00000376834.3	37	c.1115G>A	CCDS6649.1	.	.	.	.	.	.	.	.	.	.	C	28.7	4.943042	0.92526	.	.	ENSG00000156017	ENST00000376834	T	0.17691	2.26	5.93	5.93	0.95920	N2227-like (1);	0.053948	0.85682	N	0.000000	T	0.49729	0.1574	M	0.94101	3.495	0.80722	D	1	D	0.58620	0.983	P	0.55112	0.769	T	0.62348	-0.6873	10	0.87932	D	0	-13.6249	20.3495	0.98807	0.0:1.0:0.0:0.0	.	372	Q8N4J0	CI041_HUMAN	E	372	ENSP00000366030:G372E	ENSP00000366030:G372E	G	-	2	0	C9orf41	76789656	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.589000	0.74080	2.814000	0.96858	0.591000	0.81541	GGA		0.368	C9orf41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052703.1	NM_152420		3	39	0	0	0	1	0	3	39					T	77599836	C	T	77599836	3	4	188	1	0	0	0	0	1	0	0	0	2482	855	30	3	122	3	C9orf41	9	77599836	Missense_Mutation	SNP	C	TCGA-G9-7525-01A-31D-2260-08		77599836	63613595	27	8787											
ZNF484	83744	broad.mit.edu	37	chr9	95609134	95609134	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aagagatttgatctgtcagtAaaagcctttccacattcagc	13	12	7	9	0	3	2	2	1	1	1	4	3	4	2	2	0	2	1	2	0	3	4			TCGA-G9-7525-01A-31D-2260-08	TCGA-G9-7525-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e92edf41-954e-46d6-b1ec-63e2d070f16f	476829e1-ad0a-4621-9ec5-7e20e881c540	g.chr9:95609134A>G	ENST00000375495.3	-	5	2083	c.1935T>C	c.(1933-1935)ttT>ttC	p.F645F	ANKRD19P_ENST00000473204.1_RNA|ZNF484_ENST00000395505.2_Silent_p.F609F|ZNF484_ENST00000395506.3_Silent_p.F647F|ZNF484_ENST00000332591.6_Silent_p.F609F	NM_031486.2	NP_113674.1	Q5JVG2	ZN484_HUMAN	zinc finger protein 484	645					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|cervix(1)|kidney(8)|large_intestine(10)|lung(10)|prostate(2)	33						ATCTGTCAGTAAAAGCCTTTC	0.423																																						ENST00000395505.2																			0				NS(1)|breast(1)|cervix(1)|kidney(8)|large_intestine(10)|lung(10)|prostate(2)	33						c.(1825-1827)ttT>ttC		zinc finger protein 484							82	82	82					9																	95609134		2203	4300	6503	SO:0001819	synonymous_variant	83744				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:95609134A>G	AK091203	CCDS35066.1, CCDS35067.1, CCDS59136.1	9q22.32	2013-01-08			ENSG00000127081	ENSG00000127081		"Zinc fingers, C2H2-type", "-"	23385	protein-coding gene	gene with protein product							Standard	NM_001007101		Approved	BA526D8.4, FLJ33884	uc004asu.2	Q5JVG2	OTTHUMG00000020236	ENST00000375495.3:c.1935T>C	9.37:g.95609134A>G						ZNF484_ENST00000332591.6_Silent_p.F609F|ANKRD19P_ENST00000473204.1_RNA|ZNF484_ENST00000375495.3_Silent_p.F645F|ZNF484_ENST00000395506.3_Silent_p.F647F	p.F609F	NM_001261459.1|NM_001261460.1	NP_001248388.1|NP_001248389.1	Q5JVG2	ZN484_HUMAN			3	1919	-			645					B1AL89|B4DRI2	Silent	SNP	ENST00000375495.3	37	c.1827T>C	CCDS35066.1																																																																																				0.423	ZNF484-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000053111.2	XM_046861		4	90	0	0	0	1	0	4	90					G	95609134	A	G	95609134	2	3	188	1	0	0	0	0	0	0	0	1	17934	359	13	4		4	ZNF484	9	95609134	Silent	SNP	A	TCGA-G9-7525-01A-31D-2260-08	18009298	95609134	45604297	28	8788											
DAB2IP	153090	broad.mit.edu	37	chr9	124532879	124532879	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcctgagggacgtccacacaGcactgagcaccccaggtagc	10	5	11	15	1	0	2	0	2	0	0	2	3	2	3	4	2	3	3	4	2	1	1			TCGA-G9-7525-01A-31D-2260-08	TCGA-G9-7525-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e92edf41-954e-46d6-b1ec-63e2d070f16f	476829e1-ad0a-4621-9ec5-7e20e881c540	g.chr9:124532879G>A	ENST00000408936.3	+	11	2136	c.1954G>A	c.(1954-1956)Gca>Aca	p.A652T	DAB2IP_ENST00000259371.2_Missense_Mutation_p.A624T|DAB2IP_ENST00000309989.1_Missense_Mutation_p.A528T			Q5VWQ8	DAB2P_HUMAN	DAB2 interacting protein	652	Necessary for interaction with AKT1.				activation of JUN kinase activity (GO:0007257)|activation of MAPKKK activity (GO:0000185)|angiogenesis (GO:0001525)|cell cycle (GO:0007049)|cell motility involved in cerebral cortex radial glia guided migration (GO:0021814)|cellular protein catabolic process (GO:0044257)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to interleukin-1 (GO:0071347)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to tumor necrosis factor (GO:0071356)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|endothelial cell apoptotic process (GO:0072577)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|I-kappaB phosphorylation (GO:0007252)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|layer formation in cerebral cortex (GO:0021819)|negative regulation of angiogenesis (GO:0016525)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catenin import into nucleus (GO:0035414)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin catabolic process (GO:2000599)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of G0 to G1 transition (GO:0070317)|negative regulation of GTPase activity (GO:0034260)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of phosphatidylinositol 3-kinase activity (GO:0043553)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|negative regulation of Ras GTPase activity (GO:0034261)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of toll-like receptor 4 signaling pathway (GO:0034144)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030948)|negative regulation of vascular endothelial growth factor signaling pathway (GO:1900747)|neuron projection morphogenesis (GO:0048812)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of dendrite development (GO:1900006)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of neuron migration (GO:2001224)|positive regulation of neuron projection development (GO:0010976)|positive regulation of proteasomal protein catabolic process (GO:1901800)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of synapse maturation (GO:0090129)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of ARF GTPase activity (GO:0032312)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of p38MAPK cascade (GO:1900744)|regulation of protein complex assembly (GO:0043254)|response to unfolded protein (GO:0006986)|transformed cell apoptotic process (GO:0006927)|tube formation (GO:0035148)|vascular endothelial growth factor receptor-2 signaling pathway (GO:0036324)	axon (GO:0030424)|cerebellar mossy fiber (GO:0044300)|climbing fiber (GO:0044301)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|extracellular vesicular exosome (GO:0070062)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|neuronal cell body (GO:0043025)|neuronal cell body membrane (GO:0032809)|parallel fiber (GO:1990032)|plasma membrane (GO:0005886)	14-3-3 protein binding (GO:0071889)|death receptor binding (GO:0005123)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|mitogen-activated protein kinase kinase binding (GO:0031434)|mitogen-activated protein kinase kinase kinase binding (GO:0031435)|phosphatidylinositol 3-kinase binding (GO:0043548)|phosphatidylinositol 3-kinase regulatory subunit binding (GO:0036312)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4-phosphate binding (GO:0070273)|protein complex binding (GO:0032403)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein phosphatase 2A binding (GO:0051721)|Ras GTPase activator activity (GO:0005099)|SH3 domain binding (GO:0017124)|signaling adaptor activity (GO:0035591)|vascular endothelial growth factor receptor 2 binding (GO:0043184)	p.A528>?(1)		breast(3)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(8)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	27						CGTCCACACAGCACTGAGCAC	0.612																																						ENST00000408936.3																			1	Complex(1)	p.A528>?(1)	large_intestine(1)	breast(3)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(8)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	27						c.(1954-1956)Gca>Aca		DAB2 interacting protein							58	53	55					9																	124532879		2203	4300	6503	SO:0001583	missense	153090				activation of JUN kinase activity|apoptosis in response to endoplasmic reticulum stress|cellular response to epidermal growth factor stimulus|cellular response to tumor necrosis factor|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of fibroblast proliferation|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of Ras GTPase activity|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|intrinsic to internal side of plasma membrane	14-3-3 protein binding|death receptor binding|mitogen-activated protein kinase kinase kinase binding|protein homodimerization activity|protein phosphatase 2A binding|Ras GTPase activator activity|signaling adaptor activity	g.chr9:124532879G>A	AF367051	CCDS6832.1, CCDS6833.2	9q33.1-q33.3	2008-07-21			ENSG00000136848	ENSG00000136848			17294	protein-coding gene	gene with protein product	"nGAP-like protein", "DOC-2/DAB2 interactive protein", "ASK-interacting protein", "ASK1-interacting protein 1"	609205				11944990, 11812785	Standard	XM_005251721		Approved	AF9Q34, DIP1/2, KIAA1743, AIP1	uc004bln.3	Q5VWQ8	OTTHUMG00000020595	ENST00000408936.3:c.1954G>A	9.37:g.124532879G>A	ENSP00000386183:p.Ala652Thr					DAB2IP_ENST00000259371.2_Missense_Mutation_p.A624T|DAB2IP_ENST00000309989.1_Missense_Mutation_p.A528T	p.A652T			Q5VWQ8	DAB2P_HUMAN			11	2136	+			652					A6H8V2|A6NHI9|B0QZB1|G3XA90|Q8TDL2|Q96SE1|Q9C0C0	Missense_Mutation	SNP	ENST00000408936.3	37	c.1954G>A		.	.	.	.	.	.	.	.	.	.	G	25.1	4.597918	0.87055	.	.	ENSG00000136848	ENST00000259371;ENST00000408936;ENST00000373782;ENST00000309989	T;T;T;T	0.20200	2.09;2.09;2.09;2.09	4.87	4.87	0.63330	Rho GTPase activation protein (1);Ras GTPase-activating protein (1);	0.159010	0.56097	D	0.000031	T	0.29028	0.0721	M	0.69823	2.125	0.53688	D	0.999975	P;B	0.41978	0.767;0.318	B;B	0.39904	0.313;0.108	T	0.19289	-1.0310	10	0.72032	D	0.01	.	17.1743	0.86837	0.0:0.0:1.0:0.0	.	652;624	Q5VWQ8;G3XA90	DAB2P_HUMAN;.	T	624;652;561;528	ENSP00000259371:A624T;ENSP00000386183:A652T;ENSP00000362887:A561T;ENSP00000310827:A528T	ENSP00000259371:A624T	A	+	1	0	DAB2IP	123572700	1.000000	0.71417	0.994000	0.49952	0.919000	0.55068	9.236000	0.95360	2.509000	0.84616	0.563000	0.77884	GCA		0.612	DAB2IP-009	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000317857.1	NM_032552		3	40	0	0	0	1	0	3	40					A	124532879	G	A	124532879	3	1	188	1	0	0	0	0	1	0	0	0	4219	971	34	3	1912	3	DAB2IP	9	124532879	Missense_Mutation	SNP	G	TCGA-G9-7525-01A-31D-2260-08	28923745	124532879	16680552	29	8789											
ITIH2	3698	broad.mit.edu	37	chr10	7751115	7751115	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcagaatgtcgtgtttgatgTtcagatccccaaaggagcat	11	12	10	8	1	2	3	2	1	0	2	4	4	3	4	2	1	1	3	2	1	2	2			TCGA-G9-7525-01A-31D-2260-08	TCGA-G9-7525-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e92edf41-954e-46d6-b1ec-63e2d070f16f	476829e1-ad0a-4621-9ec5-7e20e881c540	g.chr10:7751115T>A	ENST00000358415.4	+	4	489	c.323T>A	c.(322-324)gTt>gAt	p.V108D	ITIH2_ENST00000379587.4_Missense_Mutation_p.V97D|ITIH2_ENST00000480387.1_Intron	NM_002216.2	NP_002207.2	P19823	ITIH2_HUMAN	inter-alpha-trypsin inhibitor heavy chain 2	108	VIT. {ECO:0000255|PROSITE- ProRule:PRU00801}.				hyaluronan metabolic process (GO:0030212)|negative regulation of endopeptidase activity (GO:0010951)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)			NS(2)|breast(1)|endometrium(8)|kidney(1)|large_intestine(17)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						GTGTTTGATGTTCAGATCCCC	0.453																																						ENST00000358415.4																			0				NS(2)|breast(1)|endometrium(8)|kidney(1)|large_intestine(17)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						c.(322-324)gTt>gAt		inter-alpha-trypsin inhibitor heavy chain 2							134	124	128					10																	7751115		2203	4300	6503	SO:0001583	missense	3698				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	g.chr10:7751115T>A	X07173	CCDS31141.1	10p14	2011-10-26	2011-10-26		ENSG00000151655	ENSG00000151655			6167	protein-coding gene	gene with protein product		146640	"inter-alpha (globulin) inhibitor, H2 polypeptide"			1385302, 10100603	Standard	NM_002216		Approved	H2P	uc001ijs.3	P19823	OTTHUMG00000017633	ENST00000358415.4:c.323T>A	10.37:g.7751115T>A	ENSP00000351190:p.Val108Asp					ITIH2_ENST00000480387.1_Intron|ITIH2_ENST00000379587.4_Missense_Mutation_p.V97D	p.V108D	NM_002216.2	NP_002207.2	P19823	ITIH2_HUMAN			4	489	+			108			VIT.		Q14659|Q15484|Q5T986	Missense_Mutation	SNP	ENST00000358415.4	37	c.323T>A	CCDS31141.1	.	.	.	.	.	.	.	.	.	.	T	27.7	4.857243	0.91433	.	.	ENSG00000151655	ENST00000358415;ENST00000429820;ENST00000379587	T;T;T	0.27557	1.66;1.66;1.66	5.85	5.85	0.93711	Vault protein inter-alpha-trypsin (2);Vault protein inter-alpha-trypsin, metazoa (1);	0.058369	0.64402	D	0.000002	T	0.63034	0.2477	M	0.89414	3.03	0.80722	D	1	D	0.76494	0.999	D	0.76575	0.988	T	0.70799	-0.4774	10	0.87932	D	0	-19.1109	16.2365	0.82377	0.0:0.0:0.0:1.0	.	108	P19823	ITIH2_HUMAN	D	108;83;97	ENSP00000351190:V108D;ENSP00000388826:V83D;ENSP00000368906:V97D	ENSP00000351190:V108D	V	+	2	0	ITIH2	7791121	1.000000	0.71417	0.982000	0.44146	0.974000	0.67602	7.698000	0.84413	2.238000	0.73509	0.477000	0.44152	GTT		0.453	ITIH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046678.2	NM_002216		21	55	0	0	0	1	0	21	55					A	7751115	T	A	7751115	3	1	188	1	0	0	0	0	1	0	0	0	7904	1725	60	5	337	5	ITIH2	10	7751115	Missense_Mutation	SNP	T	TCGA-G9-7525-01A-31D-2260-08		7751115	127783632	30	8790											
ARMC3	219681	broad.mit.edu	37	chr10	23287302	23287302	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcgctgtcaccgcaactgcGtgtgacgttgaagcccggac	7	8	12	14	5	1	2	1	2	0	0	2	3	1	3	2	1	3	3	2	1	2	1	rs544182119		TCGA-G9-7525-01A-31D-2260-08	TCGA-G9-7525-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e92edf41-954e-46d6-b1ec-63e2d070f16f	476829e1-ad0a-4621-9ec5-7e20e881c540	g.chr10:23287302G>A	ENST00000298032.5	+	11	1485	c.1401G>A	c.(1399-1401)gcG>gcA	p.A467A	RNA5SP304_ENST00000411199.1_RNA|ARMC3_ENST00000409983.3_Silent_p.A467A|ARMC3_ENST00000376528.4_Silent_p.A204A|ARMC3_ENST00000409049.3_Silent_p.A467A	NM_173081.3	NP_775104.2	Q5W041	ARMC3_HUMAN	armadillo repeat containing 3	467						extracellular vesicular exosome (GO:0070062)				breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						CCGCAACTGCGTGTGACGTTG	0.458																																						ENST00000298032.5																			0				breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						c.(1399-1401)gcG>gcA		armadillo repeat containing 3							59	56	57					10																	23287302		2203	4300	6503	SO:0001819	synonymous_variant	219681						binding	g.chr10:23287302G>A	AK057389	CCDS7142.1, CCDS60499.1, CCDS60500.1, CCDS73073.1	10p12.31	2013-02-14			ENSG00000165309	ENSG00000165309		"Armadillo repeat containing"	30964	protein-coding gene	gene with protein product	"cancer/testis antigen 81"	611226					Standard	XM_005252380		Approved	FLJ32827, CT81	uc001irm.4	Q5W041	OTTHUMG00000017811	ENST00000298032.5:c.1401G>A	10.37:g.23287302G>A						ARMC3_ENST00000409983.3_Silent_p.A467A|ARMC3_ENST00000409049.3_Silent_p.A467A|ARMC3_ENST00000376528.4_Silent_p.A204A	p.A467A	NM_173081.3	NP_775104.2	Q5W041	ARMC3_HUMAN			11	1485	+			467					A0PG76|A6NH64|B4DZL3|B7ZBN6|B7ZBN7|Q8IXS5|Q8N7B0|Q96M49	Silent	SNP	ENST00000298032.5	37	c.1401G>A	CCDS7142.1																																																																																				0.458	ARMC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047197.2	NM_173081		13	15	0	0	0	1	0	13	15					A	23287302	G	A	23287302	2	1	188	1	0	0	0	0	0	0	0	1	952	1132	40	1		1	ARMC3	10	23287302	Silent	SNP	G	TCGA-G9-7525-01A-31D-2260-08	15536187	23287302	112247445	31	8791											
RTKN2	219790	broad.mit.edu	37	chr10	63959566	63959566	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaagaacaaaggtggtttcCgtggtgacataatctcaatt	13	12	9	7	1	2	2	2	1	1	1	4	2	3	2	1	3	1	1	1	3	5	3			TCGA-G9-7525-01A-31D-2260-08	TCGA-G9-7525-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e92edf41-954e-46d6-b1ec-63e2d070f16f	476829e1-ad0a-4621-9ec5-7e20e881c540	g.chr10:63959566C>T	ENST00000373789.3	-	11	1337	c.1241G>A	c.(1240-1242)cGg>cAg	p.R414Q	RTKN2_ENST00000315289.2_Missense_Mutation_p.R216Q|RTKN2_ENST00000395265.1_Missense_Mutation_p.R435Q	NM_145307.2	NP_660350.2	Q8IZC4	RTKN2_HUMAN	rhotekin 2	414					hemopoiesis (GO:0030097)|positive regulation of cell proliferation (GO:0008284)|signal transduction (GO:0007165)	plasma membrane (GO:0005886)				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(3)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Prostate(12;0.0297)|all_hematologic(501;0.215)					AGGTGGTTTCCGTGGTGACAT	0.378																																						ENST00000373789.3																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(3)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(1240-1242)cGg>cAg		rhotekin 2							149	128	135					10																	63959566		2203	4300	6503	SO:0001583	missense	219790				signal transduction	intracellular		g.chr10:63959566C>T	BC025765	CCDS7263.1, CCDS73140.1	10q21.3	2013-01-10	2007-12-14	2007-12-14	ENSG00000182010	ENSG00000182010		"Pleckstrin homology (PH) domain containing"	19364	protein-coding gene	gene with protein product			"pleckstrin homology domain containing, family K member 1"	PLEKHK1		15504364	Standard	NM_001282941		Approved	Em:AC024597.2, bA531F24.1, FLJ39352	uc001jlw.3	Q8IZC4	OTTHUMG00000018299	ENST00000373789.3:c.1241G>A	10.37:g.63959566C>T	ENSP00000362894:p.Arg414Gln					RTKN2_ENST00000315289.2_Missense_Mutation_p.R216Q|RTKN2_ENST00000395265.1_Missense_Mutation_p.R435Q	p.R414Q	NM_145307.2	NP_660350.2	Q8IZC4	RTKN2_HUMAN			11	1337	-	Prostate(12;0.0297)|all_hematologic(501;0.215)		414					Q3ZCR1|Q68DZ6|Q8N8K1|Q8TAV2	Missense_Mutation	SNP	ENST00000373789.3	37	c.1241G>A	CCDS7263.1	.	.	.	.	.	.	.	.	.	.	C	18.35	3.605560	0.66445	.	.	ENSG00000182010	ENST00000315289;ENST00000395265;ENST00000373789	T;T;T	0.79845	-1.31;-1.31;-1.31	4.78	4.78	0.61160	.	0.056204	0.64402	D	0.000001	T	0.75324	0.3834	L	0.56280	1.765	0.46564	D	0.999102	D;D	0.56968	0.978;0.966	B;B	0.41440	0.357;0.205	T	0.78178	-0.2305	10	0.52906	T	0.07	-12.3378	11.6664	0.51376	0.0:0.9175:0.0:0.0825	.	216;414	Q5SVY4;Q8IZC4	.;RTKN2_HUMAN	Q	216;435;414	ENSP00000325379:R216Q;ENSP00000378682:R435Q;ENSP00000362894:R414Q	ENSP00000325379:R216Q	R	-	2	0	RTKN2	63629572	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.439000	0.59968	2.374000	0.81015	0.655000	0.94253	CGG		0.378	RTKN2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000091618.1	NM_145307		21	50	0	0	0	1	0	21	50					T	63959566	C	T	63959566	3	4	188	1	0	0	0	0	1	0	0	0	13723	652	23	2	596	2	RTKN2	10	63959566	Missense_Mutation	SNP	C	TCGA-G9-7525-01A-31D-2260-08	40672264	63959566	71575181	32	8792											
SUFU	51684	broad.mit.edu	37	chr10	104309804	104309804	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gagagaaactggggagtctgCcccaccaacatggcccgcag	11	4	13	13	1	1	1	0	0	1	1	1	4	1	2	4	3	3	1	4	3	2	0			TCGA-G9-7525-01A-31D-2260-08	TCGA-G9-7525-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e92edf41-954e-46d6-b1ec-63e2d070f16f	476829e1-ad0a-4621-9ec5-7e20e881c540	g.chr10:104309804C>G	ENST00000369902.3	+	3	561	c.395C>G	c.(394-396)gCc>gGc	p.A132G	SUFU_ENST00000369899.2_Missense_Mutation_p.A132G|SUFU_ENST00000423559.2_Missense_Mutation_p.A132G	NM_016169.3	NP_057253.2	Q9UMX1	SUFU_HUMAN	suppressor of fused homolog (Drosophila)	132					cytoplasmic sequestering of transcription factor (GO:0042994)|heart looping (GO:0001947)|multicellular organismal development (GO:0007275)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000059)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:1901621)|negative regulation of transcription factor import into nucleus (GO:0042992)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|proteolysis (GO:0006508)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)|skin development (GO:0043588)|smoothened signaling pathway involved in spinal cord motor neuron cell fate specification (GO:0021776)|smoothened signaling pathway involved in ventral spinal cord interneuron specification (GO:0021775)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|primary cilium (GO:0072372)	protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(7)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(2)	24		Colorectal(252;0.207)		Epithelial(162;1.36e-08)|all cancers(201;3.81e-07)|BRCA - Breast invasive adenocarcinoma(275;0.242)		GGGGAGTCTGCCCCACCAACA	0.522			"D, F, S"		medulloblastoma	medulloblastoma			Medulloblastoma, associated with Germline SUFU Mutation																													ENST00000369902.3			yes	Rec	yes	Medulloblastoma predisposition	10	10q24.32	51684	"D, F, S"	suppressor of fused homolog (Drosophila)			O		medulloblastoma	medulloblastoma		0				breast(2)|central_nervous_system(7)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(2)	24						c.(394-396)gCc>gGc		suppressor of fused homolog (Drosophila)							127	118	121					10																	104309804		2203	4300	6503	SO:0001583	missense	51684	Medulloblastoma, associated with Germline SUFU Mutation	Familial Cancer Database		negative regulation of transcription from RNA polymerase II promoter|proteolysis|skeletal system development	cytoplasm|nucleus	identical protein binding|protein binding|signal transducer activity|transcription corepressor activity|transcription factor binding	g.chr10:104309804C>G	AF175770	CCDS7537.1, CCDS53571.1	10q24.32	2014-09-17			ENSG00000107882	ENSG00000107882			16466	protein-coding gene	gene with protein product		607035				15367681	Standard	NM_016169		Approved	SUFUH, SUFUXL, PRO1280	uc001kvy.2	Q9UMX1	OTTHUMG00000018966	ENST00000369902.3:c.395C>G	10.37:g.104309804C>G	ENSP00000358918:p.Ala132Gly					SUFU_ENST00000369899.2_Missense_Mutation_p.A132G|SUFU_ENST00000423559.2_Missense_Mutation_p.A132G	p.A132G	NM_016169.3	NP_057253.2	Q9UMX1	SUFU_HUMAN		Epithelial(162;1.36e-08)|all cancers(201;3.81e-07)|BRCA - Breast invasive adenocarcinoma(275;0.242)	3	561	+		Colorectal(252;0.207)	132					Q7LCP7|Q9NT90|Q9NZ07|Q9UHK2|Q9UHM8|Q9UMY0	Missense_Mutation	SNP	ENST00000369902.3	37	c.395C>G	CCDS7537.1	.	.	.	.	.	.	.	.	.	.	C	17.51	3.407174	0.62399	.	.	ENSG00000107882	ENST00000369902;ENST00000369899;ENST00000423559	D;D;D	0.83591	-1.74;-1.74;-1.74	5.24	5.24	0.73138	Suppressor of fused domain (1);	0.000000	0.85682	D	0.000000	T	0.74809	0.3765	N	0.21583	0.68	0.80722	D	1	B;B;B	0.12013	0.003;0.005;0.003	B;B;B	0.12837	0.004;0.003;0.008	T	0.68209	-0.5469	10	0.27082	T	0.32	-16.9352	18.8243	0.92111	0.0:1.0:0.0:0.0	.	132;132;132	Q9UMX1;Q9UMX1-2;Q9UMX1-3	SUFU_HUMAN;.;.	G	132	ENSP00000358918:A132G;ENSP00000358915:A132G;ENSP00000411597:A132G	ENSP00000358915:A132G	A	+	2	0	SUFU	104299794	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.478000	0.81082	2.461000	0.83175	0.561000	0.74099	GCC		0.522	SUFU-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050089.1	NM_016169		13	36	0	0	0	1	0	13	36					G	104309804	C	G	104309804	3	3	188	1	0	0	0	0	1	0	0	0	15367	739	26	5	405	5	SUFU	10	104309804	Missense_Mutation	SNP	C	TCGA-G9-7525-01A-31D-2260-08	40350238	104309804	31224943	33	8793											
MUC5B	727897	broad.mit.edu	37	chr11	1266624	1266624	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cacaccagggccacctccagGaccacggccacggccacacc	10	1	9	21	2	0	0	0	0	0	0	1	1	1	1	8	4	0	0	8	4	0	0			TCGA-G9-7525-01A-31D-2260-08	TCGA-G9-7525-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e92edf41-954e-46d6-b1ec-63e2d070f16f	476829e1-ad0a-4621-9ec5-7e20e881c540	g.chr11:1266624G>T	ENST00000529681.1	+	31	8572	c.8514G>T	c.(8512-8514)agG>agT	p.R2838S	MUC5B_ENST00000447027.1_Missense_Mutation_p.R2841S|RP11-532E4.2_ENST00000532061.2_RNA	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	2838	7 X Cys-rich subdomain repeats.|Thr-rich.			Missing (in Ref. 6; AAB61398). {ECO:0000305}.	cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CCACCTCCAGGACCACGGCCA	0.692																																						ENST00000447027.1																			0				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137						c.(8521-8523)agG>agT		mucin 5B, oligomeric mucus/gel-forming							70	92	85					11																	1266624		2025	4087	6112	SO:0001583	missense	727897				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	g.chr11:1266624G>T	U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"Mucins"	7516	protein-coding gene	gene with protein product		600770	"mucin 5, subtype B, tracheobronchial"	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.8514G>T	11.37:g.1266624G>T	ENSP00000436812:p.Arg2838Ser					RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000529681.1_Missense_Mutation_p.R2838S	p.R2841S			Q9HC84	MUC5B_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)	31	8581	+		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	2838	Missing (in Ref. 6; AAB61398).		7 X Cys-rich subdomain repeats.|Thr-rich.		O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Missense_Mutation	SNP	ENST00000529681.1	37	c.8523G>T	CCDS44515.2	.	.	.	.	.	.	.	.	.	.	-	4.415	0.076788	0.08485	.	.	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637;ENST00000406844	T;T	0.19394	2.15;2.39	2.17	-2.04	0.07343	.	.	.	.	.	T	0.12347	0.0300	N	0.19112	0.55	0.09310	N	1	B;B	0.09022	0.002;0.002	B;B	0.04013	0.001;0.001	T	0.26883	-1.0090	9	0.87932	D	0	.	7.8868	0.29655	0.1265:0.5808:0.2927:0.0	.	3421;2841	A7Y9J9;E9PBJ0	.;.	S	2838;2841;2810;2798	ENSP00000436812:R2838S;ENSP00000415793:R2841S	ENSP00000343037:R2810S	R	+	3	2	MUC5B	1223200	0.000000	0.05858	0.000000	0.03702	0.014000	0.08584	-1.213000	0.02991	-0.669000	0.05289	0.430000	0.28490	AGG		0.692	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093		21	41	1	0	8.24728e-16	1	9.20947e-16	21	41					T	1266624	G	T	1266624	3	4	188	1	0	0	0	0	1	0	0	0	9979	1165	41	5	8645	5	MUC5B	11	1266624	Missense_Mutation	SNP	G	TCGA-G9-7525-01A-31D-2260-08		1266624	133739892	34	8794											
OR51S1	119692	broad.mit.edu	37	chr11	4869891	4869891	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gatgcaagcaataagaatggGttaggacctgtgggaggcag	13	7	16	5	0	0	1	0	0	0	1	0	4	0	3	1	4	2	4	1	4	5	2			TCGA-G9-7525-01A-31D-2260-08	TCGA-G9-7525-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e92edf41-954e-46d6-b1ec-63e2d070f16f	476829e1-ad0a-4621-9ec5-7e20e881c540	g.chr11:4869891G>A	ENST00000322101.2	-	1	623	c.548C>T	c.(547-549)aCc>aTc	p.T183I	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	NM_001004758.1	NP_001004758.1	Q8NGJ8	O51S1_HUMAN	olfactory receptor, family 51, subfamily S, member 1	183						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(15)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		ATAAGAATGGGTTAGGACCTG	0.542																																						ENST00000322101.2																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(15)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	33						c.(547-549)aCc>aTc		olfactory receptor, family 51, subfamily S, member 1							102	107	105					11																	4869891		2201	4298	6499	SO:0001583	missense	119692				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4869891G>A	AB065796	CCDS31362.1	11p15.4	2012-08-09			ENSG00000176922	ENSG00000176922		"GPCR / Class A : Olfactory receptors"	15204	protein-coding gene	gene with protein product							Standard	NM_001004758		Approved		uc010qyo.2	Q8NGJ8	OTTHUMG00000066506	ENST00000322101.2:c.548C>T	11.37:g.4869891G>A	ENSP00000322754:p.Thr183Ile					MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	p.T183I	NM_001004758.1	NP_001004758.1	Q8NGJ8	O51S1_HUMAN		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)	1	623	-		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)	183					B9EGZ1|Q6IFI2	Missense_Mutation	SNP	ENST00000322101.2	37	c.548C>T	CCDS31362.1	.	.	.	.	.	.	.	.	.	.	G	16.89	3.248115	0.59103	.	.	ENSG00000176922	ENST00000322101	T	0.37411	1.2	5.25	5.25	0.73442	GPCR, rhodopsin-like superfamily (1);	0.150168	0.31312	N	0.007867	T	0.41488	0.1161	M	0.65975	2.015	0.26178	N	0.979761	B	0.25850	0.136	B	0.24701	0.055	T	0.42498	-0.9448	10	0.72032	D	0.01	-19.9908	17.5702	0.87933	0.0:0.0:1.0:0.0	.	183	Q8NGJ8	O51S1_HUMAN	I	183	ENSP00000322754:T183I	ENSP00000322754:T183I	T	-	2	0	OR51S1	4826467	0.010000	0.17322	0.940000	0.37924	0.871000	0.50021	1.751000	0.38339	2.729000	0.93468	0.655000	0.94253	ACC		0.542	OR51S1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142179.1	NM_001004758		5	129	0	0	0	1	0	5	129					A	4869891	G	A	4869891	3	1	188	1	0	0	0	0	1	0	0	0	11105	1261	44	3	426	3	OR51S1	11	4869891	Missense_Mutation	SNP	G	TCGA-G9-7525-01A-31D-2260-08	3603267	4869891	130136625	35	8795											
TPP1	8642	broad.mit.edu	37	chr11	6640071	6640071	+	IGR	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gagagtctttccacattctgCtgtctcagggcaaaggtgag	9	11	12	9	0	3	2	1	1	3	1	5	3	4	2	1	2	1	2	1	2	1	2			TCGA-G9-7525-01A-31D-2260-08	TCGA-G9-7525-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e92edf41-954e-46d6-b1ec-63e2d070f16f	476829e1-ad0a-4621-9ec5-7e20e881c540	g.chr11:6640071C>T	ENST00000299441.3	-	0	10763				TPP1_ENST00000533371.1_5'UTR|TPP1_ENST00000528657.1_3'UTR|TPP1_ENST00000299427.6_Silent_p.Q55Q|RP11-732A19.9_ENST00000545572.1_RNA|RP11-732A19.5_ENST00000526456.1_RNA|TPP1_ENST00000534644.1_Intron	NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1						branching involved in ureteric bud morphogenesis (GO:0001658)|calcium-dependent cell-cell adhesion (GO:0016339)|cochlea development (GO:0090102)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|neural tube development (GO:0021915)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|post-anal tail morphogenesis (GO:0036342)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CCACATTCTGCTGTCTCAGGG	0.612																																						ENST00000299427.6																			0				breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(9)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						c.(163-165)caG>caA		tripeptidyl peptidase I							81	73	75					11																	6640071		2201	4296	6497	SO:0001628	intergenic_variant	1200				bone resorption|cell death|lipid metabolic process|lysosome organization|nervous system development|neuromuscular process controlling balance|peptide catabolic process|protein catabolic process|proteolysis	lysosome|melanosome|soluble fraction	metal ion binding|peptide binding|protein binding|serine-type endopeptidase activity|tripeptidyl-peptidase activity	g.chr11:6640071C>T	AB000895	CCDS7771.1	11p15.4	2013-10-04	2013-10-04	2004-09-03	ENSG00000166341	ENSG00000166341		"Cadherins / Cadherin-related"	13681	protein-coding gene	gene with protein product	"cadherin-related family member 6"	603057	"protocadherin 16", "dachsous 1 (Drosophila)"	CDH25, PCDH16		9199196	Standard	XM_005253207		Approved	FIB1, KIAA1773, FLJ11790, CDHR6	uc001mem.1	Q96JQ0	OTTHUMG00000133398		11.37:g.6640071C>T						TPP1_ENST00000528657.1_3'UTR|TPP1_ENST00000533371.1_5'UTR|RP11-732A19.9_ENST00000545572.1_RNA|TPP1_ENST00000534644.1_Intron	p.Q55Q	NM_000391.3	NP_000382.3	O14773	TPP1_HUMAN		Epithelial(150;3.45e-09)|BRCA - Breast invasive adenocarcinoma(625;0.131)	3	225	-		Medulloblastoma(188;0.00263)|all_neural(188;0.026)	55					O15098	Silent	SNP	ENST00000299441.3	37	c.165G>A	CCDS7771.1																																																																																				0.612	DCHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257258.1	NM_003737		26	60	0	0	0	1	0	26	60					T	6640071	C	T	6640071	1	4	188	0	1	0	0	0	0	0	0	0	16408	796	28	3		3	TPP1	11	6640071	IGR	SNP	C	TCGA-G9-7525-01A-31D-2260-08	1770180	6640071	128366445	36	8796											
PRSS23	11098	broad.mit.edu	37	chr11	86519574	86519574	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggtgtatcgcttctgtgacGtcaaagacgagacctatgac	10	11	11	9	3	2	4	1	2	1	2	3	5	2	4	1	1	0	2	1	1	3	3			TCGA-G9-7525-01A-31D-2260-08	TCGA-G9-7525-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e92edf41-954e-46d6-b1ec-63e2d070f16f	476829e1-ad0a-4621-9ec5-7e20e881c540	g.chr11:86519574G>A	ENST00000280258.5	+	2	1314	c.889G>A	c.(889-891)Gtc>Atc	p.V297I	PRSS23_ENST00000441050.1_Missense_Mutation_p.V265I|PRSS23_ENST00000533902.2_Intron	NM_007173.4	NP_009104.1	O95084	PRS23_HUMAN	protease, serine, 23	297						extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	serine-type endopeptidase activity (GO:0004252)			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(9)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	18		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				CTTCTGTGACGTCAAAGACGA	0.557																																						ENST00000280258.5																			0				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(9)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	18						c.(889-891)Gtc>Atc		protease, serine, 23							104	105	105					11																	86519574		2201	4299	6500	SO:0001583	missense	11098				proteolysis	extracellular region|nucleus	serine-type endopeptidase activity	g.chr11:86519574G>A	AF015287	CCDS8278.1	11q14.2	2010-05-12			ENSG00000150687	ENSG00000150687		"Serine peptidases / Serine peptidases"	14370	protein-coding gene	gene with protein product							Standard	XM_005273727		Approved	SPUVE, SIG13	uc001pcb.3	O95084		ENST00000280258.5:c.889G>A	11.37:g.86519574G>A	ENSP00000280258:p.Val297Ile					PRSS23_ENST00000533902.2_Intron|PRSS23_ENST00000441050.1_Missense_Mutation_p.V265I	p.V297I	NM_007173.4	NP_009104.1	O95084	PRS23_HUMAN			2	1314	+		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)	297					B2RDJ1|B4E2J3|Q6IBI0	Missense_Mutation	SNP	ENST00000280258.5	37	c.889G>A	CCDS8278.1	.	.	.	.	.	.	.	.	.	.	G	20.5	3.993954	0.74703	.	.	ENSG00000150687	ENST00000280258;ENST00000441050	T;T	0.42131	0.98;0.98	5.97	5.04	0.67666	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (1);	0.117372	0.64402	N	0.000019	T	0.30885	0.0779	L	0.31420	0.93	0.53688	D	0.999974	B;B	0.16603	0.005;0.018	B;B	0.15052	0.012;0.012	T	0.07009	-1.0795	9	.	.	.	-25.534	13.1442	0.59452	0.0803:0.0:0.9197:0.0	.	265;297	B4E2J3;O95084	.;PRS23_HUMAN	I	297;265	ENSP00000280258:V297I;ENSP00000393015:V265I	.	V	+	1	0	PRSS23	86197222	1.000000	0.71417	0.948000	0.38648	0.860000	0.49131	6.313000	0.72844	1.447000	0.47661	0.655000	0.94253	GTC		0.557	PRSS23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393805.2	NM_007173		8	72	0	0	0	1	0	8	72					A	86519574	G	A	86519574	3	1	188	1	0	0	0	0	1	0	0	0	12620	1145	40	1	891	1	PRSS23	11	86519574	Missense_Mutation	SNP	G	TCGA-G9-7525-01A-31D-2260-08	79879503	86519574	48486942	37	8797											
SCNN1A	6337	broad.mit.edu	37	chr12	6471351	6471351	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aagcggtaccactccctcacCgcatccacccctgatgagta	10	7	7	17	2	1	2	1	2	0	0	3	2	3	2	6	1	2	3	6	1	3	2	rs574585318		TCGA-G9-7525-01A-31D-2260-08	TCGA-G9-7525-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e92edf41-954e-46d6-b1ec-63e2d070f16f	476829e1-ad0a-4621-9ec5-7e20e881c540	g.chr12:6471351C>T	ENST00000228916.2	-	4	839	c.741G>A	c.(739-741)gcG>gcA	p.A247A	SCNN1A_ENST00000540037.1_5'UTR|SCNN1A_ENST00000360168.3_Silent_p.A306A|SCNN1A_ENST00000543768.1_Silent_p.A270A|SCNN1A_ENST00000358945.3_Silent_p.A247A|SCNN1A_ENST00000396966.2_Silent_p.A247A|SCNN1A_ENST00000538979.1_Intron	NM_001038.5	NP_001029.1	P37088	SCNNA_HUMAN	sodium channel, non-voltage-gated 1 alpha subunit	247					excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|multicellular organismal water homeostasis (GO:0050891)|response to stimulus (GO:0050896)|sensory perception of taste (GO:0050909)|sodium ion homeostasis (GO:0055078)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|ciliary membrane (GO:0060170)|cortical actin cytoskeleton (GO:0030864)|cytosol (GO:0005829)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|motile cilium (GO:0031514)|plasma membrane (GO:0005886)|sodium channel complex (GO:0034706)	ligand-gated sodium channel activity (GO:0015280)|WW domain binding (GO:0050699)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(2)|lung(6)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	27					Amiloride(DB00594)|Triamterene(DB00384)	ACTCCCTCACCGCATCCACCC	0.567																																						ENST00000358945.3																			0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(2)|lung(6)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	27						c.(739-741)gcG>gcA		sodium channel, non-voltage-gated 1 alpha subunit	Amiloride(DB00594)|Triamterene(DB00384)						178	126	144					12																	6471351		2203	4300	6503	SO:0001819	synonymous_variant	0				excretion|response to stimulus|sensory perception of taste	apical plasma membrane	WW domain binding	g.chr12:6471351C>T	Z92978	CCDS8543.1, CCDS53738.1, CCDS53739.1	12p13	2012-02-28	2012-02-28		ENSG00000111319	ENSG00000111319		"Ion channels / Sodium channel, nonvoltage-gated", "Sodium channels"	10599	protein-coding gene	gene with protein product		600228	"sodium channel, nonvoltage-gated 1 alpha", "sodium channel, non-voltage-gated 1 alpha"	SCNN1		7896277	Standard	NM_001038		Approved	ENaCalpha	uc001qnw.3	P37088	OTTHUMG00000168268	ENST00000228916.2:c.741G>A	12.37:g.6471351C>T						SCNN1A_ENST00000540037.1_5'UTR|SCNN1A_ENST00000360168.3_Silent_p.A306A|SCNN1A_ENST00000396966.2_Silent_p.A247A|SCNN1A_ENST00000538979.1_Intron|SCNN1A_ENST00000543768.1_Silent_p.A270A|SCNN1A_ENST00000228916.2_Silent_p.A247A	p.A247A			P37088	SCNNA_HUMAN			3	1181	-			247					A5X2U9|B4E2Q5|C5HTZ0|O43271|Q6GSQ6|Q9UM64	Silent	SNP	ENST00000228916.2	37	c.741G>A	CCDS8543.1																																																																																				0.567	SCNN1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399055.1			11	108	0	0	0	1	0	11	108					T	6471351	C	T	6471351	2	4	188	1	0	0	0	0	0	0	0	1	13927	639	23	2		2	SCNN1A	12	6471351	Silent	SNP	C	TCGA-G9-7525-01A-31D-2260-08		6471351	127380544	38	8798											
ANKRD52	283373	broad.mit.edu	37	chr12	56638565	56638565	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gacattgtccgcgaaggcagCggcgtgaaggggggtcctgt	7	7	18	9	4	0	1	0	1	0	0	2	3	2	1	2	5	1	1	2	5	2	1			TCGA-G9-7525-01A-31D-2260-08	TCGA-G9-7525-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e92edf41-954e-46d6-b1ec-63e2d070f16f	476829e1-ad0a-4621-9ec5-7e20e881c540	g.chr12:56638565C>T	ENST00000267116.7	-	24	2714	c.2593G>A	c.(2593-2595)Gct>Act	p.A865T	ANKRD52_ENST00000548241.1_5'Flank	NM_173595.3	NP_775866.2	Q8NB46	ANR52_HUMAN	ankyrin repeat domain 52	865										endometrium(9)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)|skin(1)	29						GCGAAGGCAGCGGCGTGAAGG	0.582																																						ENST00000267116.7																			0				endometrium(9)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)|skin(1)	29						c.(2593-2595)Gct>Act		ankyrin repeat domain 52							60	61	61					12																	56638565		2103	4232	6335	SO:0001583	missense	283373						protein binding	g.chr12:56638565C>T	AK091555	CCDS44920.1	12q13.3	2013-01-10			ENSG00000139645	ENSG00000139645		"Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits", "Ankyrin repeat domain containing"	26614	protein-coding gene	gene with protein product	"protein phosphatase 6 ankyrin repeat subunit C"						Standard	NM_173595		Approved	FLJ34236, PP6-ARS-C	uc001skm.4	Q8NB46	OTTHUMG00000170329	ENST00000267116.7:c.2593G>A	12.37:g.56638565C>T	ENSP00000267116:p.Ala865Thr						p.A865T	NM_173595.3	NP_775866.2	Q8NB46	ANR52_HUMAN			24	2714	-			865					A6NE79|B1Q2K2	Missense_Mutation	SNP	ENST00000267116.7	37	c.2593G>A	CCDS44920.1	.	.	.	.	.	.	.	.	.	.	C	33	5.226030	0.95173	.	.	ENSG00000139645	ENST00000267116;ENST00000417002	T	0.81163	-1.46	4.53	4.53	0.55603	Ankyrin repeat-containing domain (4);	0.000000	0.85682	D	0.000000	D	0.91264	0.7246	M	0.90483	3.12	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.92745	0.6211	9	.	.	.	.	16.5704	0.84611	0.0:1.0:0.0:0.0	.	865	Q8NB46	ANR52_HUMAN	T	865	ENSP00000267116:A865T	.	A	-	1	0	ANKRD52	54924832	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.629000	0.83207	2.527000	0.85204	0.655000	0.94253	GCT		0.582	ANKRD52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408539.1	NM_173595		3	63	0	0	0	1	0	3	63					T	56638565	C	T	56638565	3	4	188	1	0	0	0	0	1	0	0	0	678	768	27	1	657	1	ANKRD52	12	56638565	Missense_Mutation	SNP	C	TCGA-G9-7525-01A-31D-2260-08	50167214	56638565	77213330	39	8799											
ANKRD52	283373	broad.mit.edu	37	chr12	56647135	56647135	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctcgtgtccatatcgagcaGccacatgcagtggcgtgttc	7	10	12	12	3	0	0	0	0	0	0	4	1	1	0	2	1	3	4	2	1	1	2			TCGA-G9-7525-01A-31D-2260-08	TCGA-G9-7525-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e92edf41-954e-46d6-b1ec-63e2d070f16f	476829e1-ad0a-4621-9ec5-7e20e881c540	g.chr12:56647135G>A	ENST00000267116.7	-	10	1158	c.1037C>T	c.(1036-1038)gCt>gTt	p.A346V		NM_173595.3	NP_775866.2	Q8NB46	ANR52_HUMAN	ankyrin repeat domain 52	346										endometrium(9)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)|skin(1)	29						ATATCGAGCAGCCACATGCAG	0.582																																						ENST00000267116.7																			0				endometrium(9)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)|skin(1)	29						c.(1036-1038)gCt>gTt		ankyrin repeat domain 52							79	82	81					12																	56647135		2117	4238	6355	SO:0001583	missense	283373						protein binding	g.chr12:56647135G>A	AK091555	CCDS44920.1	12q13.3	2013-01-10			ENSG00000139645	ENSG00000139645		"Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits", "Ankyrin repeat domain containing"	26614	protein-coding gene	gene with protein product	"protein phosphatase 6 ankyrin repeat subunit C"						Standard	NM_173595		Approved	FLJ34236, PP6-ARS-C	uc001skm.4	Q8NB46	OTTHUMG00000170329	ENST00000267116.7:c.1037C>T	12.37:g.56647135G>A	ENSP00000267116:p.Ala346Val						p.A346V	NM_173595.3	NP_775866.2	Q8NB46	ANR52_HUMAN			10	1158	-			346					A6NE79|B1Q2K2	Missense_Mutation	SNP	ENST00000267116.7	37	c.1037C>T	CCDS44920.1	.	.	.	.	.	.	.	.	.	.	G	35	5.448576	0.96205	.	.	ENSG00000139645	ENST00000267116;ENST00000417002	D	0.81739	-1.53	4.19	4.19	0.49359	Ankyrin repeat-containing domain (4);	0.000000	0.85682	D	0.000000	D	0.91962	0.7454	M	0.93328	3.405	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.94099	0.7360	10	0.87932	D	0	.	15.8448	0.78879	0.0:0.0:1.0:0.0	.	346	Q8NB46	ANR52_HUMAN	V	346	ENSP00000267116:A346V	ENSP00000267116:A346V	A	-	2	0	ANKRD52	54933402	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.646000	0.98474	2.350000	0.79820	0.655000	0.94253	GCT		0.582	ANKRD52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408539.1	NM_173595		59	94	0	0	0	1	0	59	94					A	56647135	G	A	56647135	3	1	188	1	0	0	0	0	1	0	0	0	678	971	34	3	2269	3	ANKRD52	12	56647135	Missense_Mutation	SNP	G	TCGA-G9-7525-01A-31D-2260-08	8570	56647135	77204760	40	8800											
TPH2	121278	broad.mit.edu	37	chr12	72425401	72425401	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ccagaagtattgaaaatgtgGtgcaggaccttcgcagcgac	12	8	12	9	2	0	2	0	1	0	1	1	4	0	3	2	2	2	3	2	2	4	3			TCGA-G9-7525-01A-31D-2260-08	TCGA-G9-7525-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e92edf41-954e-46d6-b1ec-63e2d070f16f	476829e1-ad0a-4621-9ec5-7e20e881c540	g.chr12:72425401G>T	ENST00000333850.3	+	11	1540	c.1399G>T	c.(1399-1401)Gtg>Ttg	p.V467L		NM_173353.3	NP_775489.2	Q8IWU9	TPH2_HUMAN	tryptophan hydroxylase 2	467					aromatic amino acid family metabolic process (GO:0009072)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to lithium ion (GO:0071285)|circadian rhythm (GO:0007623)|indolalkylamine biosynthetic process (GO:0046219)|response to activity (GO:0014823)|response to calcium ion (GO:0051592)|response to estrogen (GO:0043627)|response to glucocorticoid (GO:0051384)|response to nutrient levels (GO:0031667)|serotonin biosynthetic process (GO:0042427)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|neuron projection (GO:0043005)	amino acid binding (GO:0016597)|iron ion binding (GO:0005506)|tryptophan 5-monooxygenase activity (GO:0004510)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	41					L-Tryptophan(DB00150)	TGAAAATGTGGTGCAGGACCT	0.418																																						ENST00000333850.3																			0				breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	41						c.(1399-1401)Gtg>Ttg		tryptophan hydroxylase 2	L-Tryptophan(DB00150)						161	155	157					12																	72425401		2203	4300	6503	SO:0001583	missense	121278				aromatic amino acid family metabolic process|hormone biosynthetic process|serotonin biosynthetic process	cytosol	amino acid binding|iron ion binding|tryptophan 5-monooxygenase activity	g.chr12:72425401G>T	AY098914	CCDS31859.1	12q15	2008-02-07				ENSG00000139287	1.14.16.4		20692	protein-coding gene	gene with protein product		607478				12511643	Standard	NM_173353		Approved	NTPH, FLJ37295	uc009zrw.1	Q8IWU9		ENST00000333850.3:c.1399G>T	12.37:g.72425401G>T	ENSP00000329093:p.Val467Leu						p.V467L	NM_173353.3	NP_775489.2	Q8IWU9	TPH2_HUMAN			11	1540	+			467					A6NGA4|Q14CB0	Missense_Mutation	SNP	ENST00000333850.3	37	c.1399G>T	CCDS31859.1	.	.	.	.	.	.	.	.	.	.	G	13.41	2.229594	0.39399	.	.	ENSG00000139287	ENST00000333850	D	0.99474	-5.97	5.82	5.82	0.92795	Aromatic amino acid hydroxylase, C-terminal (3);	0.000000	0.85682	D	0.000000	D	0.98140	0.9386	L	0.41079	1.255	0.80722	D	1	B	0.24092	0.097	B	0.35353	0.201	D	0.97507	1.0064	10	0.14656	T	0.56	-21.0823	13.3748	0.60732	0.0717:0.0:0.9283:0.0	.	467	Q8IWU9	TPH2_HUMAN	L	467	ENSP00000329093:V467L	ENSP00000329093:V467L	V	+	1	0	TPH2	70711668	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	8.058000	0.89460	2.773000	0.95371	0.586000	0.80456	GTG		0.418	TPH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405234.1	NM_173353		4	170	1	0	0.000602214	1	0.000630443	4	170					T	72425401	G	T	72425401	3	4	188	1	0	0	0	0	1	0	0	0	16399	1261	44	5	1441	5	TPH2	12	72425401	Missense_Mutation	SNP	G	TCGA-G9-7525-01A-31D-2260-08	15778266	72425401	61426494	41	8801											
STOML3	161003	broad.mit.edu	37	chr13	39541069	39541069	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtagaattcttctcggtggCtaccgtgctcaaggtctgca	7	12	11	11	3	4	1	1	0	3	1	5	1	4	1	1	3	3	4	1	3	4	4			TCGA-G9-7525-01A-31D-2260-08	TCGA-G9-7525-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e92edf41-954e-46d6-b1ec-63e2d070f16f	476829e1-ad0a-4621-9ec5-7e20e881c540	g.chr13:39541069C>A	ENST00000379631.4	-	7	1113	c.769G>T	c.(769-771)Gcc>Tcc	p.A257S	STOML3_ENST00000423210.1_Missense_Mutation_p.A248S	NM_145286.2	NP_660329.1	Q8TAV4	STML3_HUMAN	stomatin (EPB72)-like 3	257					signal transduction (GO:0007165)	cilium (GO:0005929)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)				breast(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)	11		Lung NSC(96;1.42e-05)|Prostate(109;0.00851)|Breast(139;0.0199)|Lung SC(185;0.0743)		all cancers(112;2.93e-08)|Epithelial(112;3.64e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00107)|BRCA - Breast invasive adenocarcinoma(63;0.00349)|GBM - Glioblastoma multiforme(144;0.0137)		TTCTCGGTGGCTACCGTGCTC	0.493																																						ENST00000379631.4																			0				breast(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)	11						c.(769-771)Gcc>Tcc		stomatin (EPB72)-like 3							94	87	89					13																	39541069		2203	4300	6503	SO:0001583	missense	0					integral to membrane|plasma membrane		g.chr13:39541069C>A	BC025760	CCDS9367.1, CCDS45040.1	13q13.2	2004-03-05			ENSG00000133115	ENSG00000133115			19420	protein-coding gene	gene with protein product		608327				12122055	Standard	NM_145286		Approved	SRO, Epb7.2l	uc001uwx.3	Q8TAV4	OTTHUMG00000016763	ENST00000379631.4:c.769G>T	13.37:g.39541069C>A	ENSP00000368952:p.Ala257Ser					STOML3_ENST00000423210.1_Missense_Mutation_p.A248S	p.A257S	NM_145286.2	NP_660329.1	Q8TAV4	STML3_HUMAN		all cancers(112;2.93e-08)|Epithelial(112;3.64e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00107)|BRCA - Breast invasive adenocarcinoma(63;0.00349)|GBM - Glioblastoma multiforme(144;0.0137)	7	1113	-		Lung NSC(96;1.42e-05)|Prostate(109;0.00851)|Breast(139;0.0199)|Lung SC(185;0.0743)	257					B4E285|Q5JS35	Missense_Mutation	SNP	ENST00000379631.4	37	c.769G>T	CCDS9367.1	.	.	.	.	.	.	.	.	.	.	C	10.83	1.461155	0.26248	.	.	ENSG00000133115	ENST00000379631;ENST00000423210	D;D	0.99523	-6.08;-6.08	5.46	4.62	0.57501	.	0.000000	0.85682	D	0.000000	D	0.97570	0.9204	L	0.39397	1.21	0.80722	D	1	B;B	0.26935	0.148;0.164	B;B	0.28139	0.07;0.086	D	0.97546	1.0089	10	0.05959	T	0.93	-24.1717	13.3449	0.60566	0.0:0.9223:0.0:0.0777	.	248;257	B4E285;Q8TAV4	.;STML3_HUMAN	S	257;248	ENSP00000368952:A257S;ENSP00000401989:A248S	ENSP00000368952:A257S	A	-	1	0	STOML3	38439069	1.000000	0.71417	0.564000	0.28396	0.126000	0.20510	5.801000	0.69115	1.286000	0.44565	0.655000	0.94253	GCC		0.493	STOML3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000044604.2			4	51	1	0	0.00024832	1	0.000264086	4	51					A	39541069	C	A	39541069	3	1	188	1	0	0	0	0	1	0	0	0	15314	797	28	5	110	5	STOML3	13	39541069	Missense_Mutation	SNP	C	TCGA-G9-7525-01A-31D-2260-08		39541069	75628809	42	8802											
IL25	64806	broad.mit.edu	37	chr14	23844881	23844881	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccaggacctgtaccacgcccGttgcctgtgcccgcactgcg	5	7	11	18	4	0	0	0	0	0	0	0	1	0	1	6	1	4	3	6	1	1	2			TCGA-G9-7525-01A-31D-2260-08	TCGA-G9-7525-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e92edf41-954e-46d6-b1ec-63e2d070f16f	476829e1-ad0a-4621-9ec5-7e20e881c540	g.chr14:23844881G>A	ENST00000329715.2	+	2	584	c.326G>A	c.(325-327)cGt>cAt	p.R109H	CMTM5_ENST00000359320.3_5'Flank|IL25_ENST00000397242.2_Missense_Mutation_p.R93H|CMTM5_ENST00000555731.1_5'Flank|CMTM5_ENST00000342473.4_5'Flank|CMTM5_ENST00000339180.4_5'Flank|CMTM5_ENST00000397227.3_5'Flank|CMTM5_ENST00000382809.2_5'Flank	NM_022789.3	NP_073626.1	Q9H293	IL25_HUMAN	interleukin 25	109					eosinophil differentiation (GO:0030222)|inflammatory response to antigenic stimulus (GO:0002437)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to fungus (GO:0009620)|response to nematode (GO:0009624)	extracellular space (GO:0005615)	interleukin-17E receptor binding (GO:0030380)			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)	9	all_cancers(95;2e-05)			GBM - Glioblastoma multiforme(265;0.00665)|READ - Rectum adenocarcinoma(4;0.0276)|Colorectal(4;0.0396)		TACCACGCCCGTTGCCTGTGC	0.632																																						ENST00000329715.2																			0				NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)	9						c.(325-327)cGt>cAt		interleukin 25							92	92	92					14																	23844881		2203	4300	6503	SO:0001583	missense	0				inflammatory response	extracellular space|membrane	cytokine activity|interleukin-17E receptor binding	g.chr14:23844881G>A	AF305200	CCDS9597.1, CCDS45086.1	14q11.2	2008-01-07	2006-05-17	2006-05-17	ENSG00000166090	ENSG00000166090		"Interleukins and interleukin receptors"	13765	protein-coding gene	gene with protein product		605658	"interleukin 17E"	IL17E		11058597, 11754819	Standard	NM_172314		Approved	IL-25, IL-17E	uc001wjq.3	Q9H293	OTTHUMG00000028749	ENST00000329715.2:c.326G>A	14.37:g.23844881G>A	ENSP00000328111:p.Arg109His					IL25_ENST00000397242.2_Missense_Mutation_p.R93H	p.R109H	NM_022789.3	NP_073626.1	Q9H293	IL25_HUMAN		GBM - Glioblastoma multiforme(265;0.00665)|READ - Rectum adenocarcinoma(4;0.0276)|Colorectal(4;0.0396)	2	584	+	all_cancers(95;2e-05)		109					Q2M3F0|Q8IZV3|Q8WXB0	Missense_Mutation	SNP	ENST00000329715.2	37	c.326G>A	CCDS9597.1	.	.	.	.	.	.	.	.	.	.	G	20.5	4.002157	0.74932	.	.	ENSG00000166090	ENST00000397242;ENST00000329715	T;T	0.57273	0.41;0.41	4.6	3.71	0.42584	.	0.113462	0.40640	N	0.001059	T	0.62307	0.2417	L	0.51422	1.61	0.32325	N	0.56185	D;B	0.89917	1.0;0.163	D;B	0.75484	0.986;0.042	T	0.68424	-0.5412	10	0.56958	D	0.05	-24.8202	8.15	0.31134	0.1085:0.0:0.8915:0.0	.	109;93	Q9H293;Q9H293-2	IL25_HUMAN;.	H	93;109	ENSP00000380417:R93H;ENSP00000328111:R109H	ENSP00000328111:R109H	R	+	2	0	IL25	22914721	0.107000	0.21998	0.943000	0.38184	0.973000	0.67179	0.630000	0.24553	1.162000	0.42619	0.561000	0.74099	CGT		0.632	IL25-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000071789.2			12	103	0	0	0	1	0	12	103					A	23844881	G	A	23844881	3	1	188	1	0	0	0	0	1	0	0	0	7678	1145	40	1	345	1	IL25	14	23844881	Missense_Mutation	SNP	G	TCGA-G9-7525-01A-31D-2260-08		23844881	83504659	43	8803											
ZFP36L1	677	broad.mit.edu	37	chr14	69256720	69256720	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccgggccccggccagggcacGgcgctcttcagcgttgtgga	4	6	16	15	5	2	0	1	0	1	0	2	1	2	1	4	5	1	3	4	5	0	2			TCGA-G9-7525-01A-31D-2260-08	TCGA-G9-7525-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e92edf41-954e-46d6-b1ec-63e2d070f16f	476829e1-ad0a-4621-9ec5-7e20e881c540	g.chr14:69256720G>C	ENST00000439696.2	-	2	848	c.547C>G	c.(547-549)Cgt>Ggt	p.R183G	ZFP36L1_ENST00000555997.1_3'UTR|ZFP36L1_ENST00000336440.3_Missense_Mutation_p.R183G	NM_001244701.1|NM_004926.3	NP_001231630.1|NP_004917.2	Q07352	TISB_HUMAN	ZFP36 ring finger protein-like 1	183					gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|regulation of mRNA stability (GO:0043488)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|T cell differentiation in thymus (GO:0033077)|vasculogenesis (GO:0001570)	cytosol (GO:0005829)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(4)|kidney(1)|large_intestine(1)|liver(2)|lung(9)|ovary(1)|prostate(2)|urinary_tract(1)	21				all cancers(60;0.00203)|BRCA - Breast invasive adenocarcinoma(234;0.00205)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)		GCCAGGGCACGGCGCTCTTCA	0.672											OREG0022753	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000439696.2																			0				breast(4)|kidney(1)|large_intestine(1)|liver(2)|lung(9)|ovary(1)|prostate(2)|urinary_tract(1)	21						c.(547-549)Cgt>Ggt		ZFP36 ring finger protein-like 1							26	32	30					14																	69256720		2201	4295	6496	SO:0001583	missense	677				regulation of mRNA stability	cytosol|nucleus	DNA binding|mRNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr14:69256720G>C	X79066	CCDS9791.1	14q22-q24	2012-11-27	2012-11-27	2001-11-23		ENSG00000185650		"RING-type (C3HC4) zinc fingers"	1107	protein-coding gene	gene with protein product		601064	"zinc finger protein, C3H type, 36-like 1", "zinc finger protein 36, C3H type-like 1"	BRF1		8024689	Standard	NM_004926		Approved	RNF162B, Berg36, ERF1, TIS11B, cMG1	uc021rve.1	Q07352		ENST00000439696.2:c.547C>G	14.37:g.69256720G>C	ENSP00000388402:p.Arg183Gly		OREG0022753	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1113	ZFP36L1_ENST00000336440.3_Missense_Mutation_p.R183G|ZFP36L1_ENST00000555997.1_3'UTR	p.R183G	NM_001244701.1|NM_004926.3	NP_001231630.1|NP_004917.2	Q07352	TISB_HUMAN		all cancers(60;0.00203)|BRCA - Breast invasive adenocarcinoma(234;0.00205)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)	2	848	-			183					Q13851	Missense_Mutation	SNP	ENST00000439696.2	37	c.547C>G	CCDS9791.1	.	.	.	.	.	.	.	.	.	.	G	13.16	2.155525	0.38021	.	.	ENSG00000185650	ENST00000439696;ENST00000336440;ENST00000435246;ENST00000557086;ENST00000557022	T;T	0.38240	1.15;1.15	4.5	2.46	0.29980	.	0.000000	0.85682	D	0.000000	T	0.33059	0.0850	L	0.54323	1.7	0.80722	D	1	P	0.43094	0.799	B	0.37888	0.26	T	0.42413	-0.9453	10	0.72032	D	0.01	-9.7454	13.9812	0.64306	0.0:0.0:0.7161:0.2839	.	183	Q07352	TISB_HUMAN	G	183;183;166;189;161	ENSP00000388402:R183G;ENSP00000337386:R183G	ENSP00000337386:R183G	R	-	1	0	ZFP36L1	68326473	1.000000	0.71417	0.995000	0.50966	0.989000	0.77384	7.547000	0.82146	1.086000	0.41228	0.585000	0.79938	CGT		0.672	ZFP36L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413227.1			20	19	0	0	0	1	0	20	19					C	69256720	G	C	69256720	3	2	188	1	0	0	0	0	1	0	0	0	17643	1116	39	5	473	5	ZFP36L1	14	69256720	Missense_Mutation	SNP	G	TCGA-G9-7525-01A-31D-2260-08	45411839	69256720	38092820	44	8804											
GANC	2595	broad.mit.edu	37	chr15	42631922	42631922	+	Nonsense_Mutation	SNP	C	C	A																															gagctgctagtgcgttggtaCcaggctggagcctaccagcc																										TCGA-G9-7525-01A-31D-2260-08	TCGA-G9-7525-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e92edf41-954e-46d6-b1ec-63e2d070f16f	476829e1-ad0a-4621-9ec5-7e20e881c540	g.chr15:42631922C>A	ENST00000318010.8	+	17	2139	c.1899C>A	c.(1897-1899)taC>taA	p.Y633*		NM_198141.2	NP_937784.2	Q8TET4	GANC_HUMAN	glucosidase, alpha; neutral C	633					carbohydrate metabolic process (GO:0005975)		alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|maltose alpha-glucosidase activity (GO:0032450)			breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		all_cancers(109;3.08e-16)|all_epithelial(112;7.48e-15)|Lung NSC(122;3.08e-09)|all_lung(180;1.48e-08)|Melanoma(134;0.0574)|Colorectal(260;0.153)		GBM - Glioblastoma multiforme(94;1.06e-06)	Miglitol(DB00491)	TGCGTTGGTACCAGGCTGGAG	0.562																																						ENST00000318010.8																			0				breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						c.(1897-1899)taC>taA		glucosidase, alpha; neutral C							91	88	89					15																	42631922		2203	4299	6502	SO:0001587	stop_gained	2595				carbohydrate metabolic process		carbohydrate binding|maltose alpha-glucosidase activity	g.chr15:42631922C>A	AF545045	CCDS10084.1	15q15.2	2012-10-02			ENSG00000214013	ENSG00000214013	3.2.1.20		4139	protein-coding gene	gene with protein product		104180				6995030, 12370436	Standard	NM_198141		Approved		uc001zpi.3	Q8TET4	OTTHUMG00000130487	ENST00000318010.8:c.1899C>A	15.37:g.42631922C>A	ENSP00000326227:p.Tyr633*						p.Y633*	NM_198141.2	NP_937784.2	Q8TET4	GANC_HUMAN		GBM - Glioblastoma multiforme(94;1.06e-06)	17	2139	+		all_cancers(109;3.08e-16)|all_epithelial(112;7.48e-15)|Lung NSC(122;3.08e-09)|all_lung(180;1.48e-08)|Melanoma(134;0.0574)|Colorectal(260;0.153)	633					Q52LQ4|Q8IWZ0|Q8IZM4|Q8IZM5	Nonsense_Mutation	SNP	ENST00000318010.8	37	c.1899C>A	CCDS10084.1	.	.	.	.	.	.	.	.	.	.	C	39	7.824981	0.98510	.	.	ENSG00000214013	ENST00000318010	.	.	.	5.87	4.96	0.65561	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-12.2821	9.4186	0.38536	0.0:0.7991:0.0:0.2009	.	.	.	.	X	633	.	ENSP00000326227:Y633X	Y	+	3	2	GANC	40419214	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	3.221000	0.51215	1.486000	0.48398	0.655000	0.94253	TAC		0.562	GANC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252887.2	NM_198141		3	106	1	0	1.23904e-05	1	1.33896e-05	3	106					A	42631922	C	A	42631922	4	1	188	1	0	0	0	0	0	1	0	0	6234	518	18	5	1965	5	GANC	15	42631922	Nonsense_Mutation	SNP	C	TCGA-G9-7525-01A-31D-2260-08		42631922	59899470	45	8805	49	2									
GANC	2595	broad.mit.edu	37	chr15	42631923	42631923	+	Missense_Mutation	SNP	C	C	A																															agctgctagtgcgttggtacCaggctggagcctaccagccc																										TCGA-G9-7525-01A-31D-2260-08	TCGA-G9-7525-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e92edf41-954e-46d6-b1ec-63e2d070f16f	476829e1-ad0a-4621-9ec5-7e20e881c540	g.chr15:42631923C>A	ENST00000318010.8	+	17	2140	c.1900C>A	c.(1900-1902)Cag>Aag	p.Q634K		NM_198141.2	NP_937784.2	Q8TET4	GANC_HUMAN	glucosidase, alpha; neutral C	634					carbohydrate metabolic process (GO:0005975)		alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|maltose alpha-glucosidase activity (GO:0032450)			breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		all_cancers(109;3.08e-16)|all_epithelial(112;7.48e-15)|Lung NSC(122;3.08e-09)|all_lung(180;1.48e-08)|Melanoma(134;0.0574)|Colorectal(260;0.153)		GBM - Glioblastoma multiforme(94;1.06e-06)	Miglitol(DB00491)	GCGTTGGTACCAGGCTGGAGC	0.567																																						ENST00000318010.8																			0				breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						c.(1900-1902)Cag>Aag		glucosidase, alpha; neutral C							91	87	88					15																	42631923		2203	4299	6502	SO:0001583	missense	2595				carbohydrate metabolic process		carbohydrate binding|maltose alpha-glucosidase activity	g.chr15:42631923C>A	AF545045	CCDS10084.1	15q15.2	2012-10-02			ENSG00000214013	ENSG00000214013	3.2.1.20		4139	protein-coding gene	gene with protein product		104180				6995030, 12370436	Standard	NM_198141		Approved		uc001zpi.3	Q8TET4	OTTHUMG00000130487	ENST00000318010.8:c.1900C>A	15.37:g.42631923C>A	ENSP00000326227:p.Gln634Lys						p.Q634K	NM_198141.2	NP_937784.2	Q8TET4	GANC_HUMAN		GBM - Glioblastoma multiforme(94;1.06e-06)	17	2140	+		all_cancers(109;3.08e-16)|all_epithelial(112;7.48e-15)|Lung NSC(122;3.08e-09)|all_lung(180;1.48e-08)|Melanoma(134;0.0574)|Colorectal(260;0.153)	634					Q52LQ4|Q8IWZ0|Q8IZM4|Q8IZM5	Missense_Mutation	SNP	ENST00000318010.8	37	c.1900C>A	CCDS10084.1	.	.	.	.	.	.	.	.	.	.	C	35	5.501747	0.96371	.	.	ENSG00000214013	ENST00000318010	D	0.93076	-3.16	6.03	6.03	0.97812	Glycoside hydrolase, superfamily (1);	0.000000	0.85682	D	0.000000	D	0.98157	0.9391	H	0.97131	3.945	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	D	0.98545	1.0634	10	0.87932	D	0	-12.5115	20.5568	0.99304	0.0:1.0:0.0:0.0	.	634	Q8TET4	GANC_HUMAN	K	634	ENSP00000326227:Q634K	ENSP00000326227:Q634K	Q	+	1	0	GANC	40419215	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	7.771000	0.85420	2.861000	0.98227	0.655000	0.94253	CAG		0.567	GANC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252887.2	NM_198141		3	105	1	0	1.23904e-05	1	1.33896e-05	3	105					A	42631923	C	A	42631923	3	1	188	1	0	0	0	0	1	0	0	0	6234	595	21	5	1966	5	GANC	15	42631923	Missense_Mutation	SNP	C	TCGA-G9-7525-01A-31D-2260-08	1	42631923	59899469	46	8806	49	2									
TGM7	116179	broad.mit.edu	37	chr15	43579553	43579553	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcccctggctgaccactgctGtaggatggccacactgccct	6	8	11	16	0	0	1	0	1	0	0	0	2	0	2	5	3	2	3	5	3	1	1			TCGA-G9-7525-01A-31D-2260-08	TCGA-G9-7525-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e92edf41-954e-46d6-b1ec-63e2d070f16f	476829e1-ad0a-4621-9ec5-7e20e881c540	g.chr15:43579553G>A	ENST00000452443.2	-	6	794	c.790C>T	c.(790-792)Cag>Tag	p.Q264*		NM_052955.2	NP_443187.1	Q96PF1	TGM7_HUMAN	transglutaminase 7	264					peptide cross-linking (GO:0018149)		metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(2)|prostate(4)|skin(1)	39		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;9.14e-07)	L-Glutamine(DB00130)	GACCACTGCTGTAGGATGGCC	0.592																																						ENST00000452443.2																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(2)|prostate(4)|skin(1)	39						c.(790-792)Cag>Tag		transglutaminase 7	L-Glutamine(DB00130)						65	51	56					15																	43579553		2202	4299	6501	SO:0001587	stop_gained	116179				peptide cross-linking		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity	g.chr15:43579553G>A	AF363393	CCDS32213.1	15q15.2	2004-07-01				ENSG00000159495		"Transglutaminases"	30790	protein-coding gene	gene with protein product	"transglutaminase Z"	606776				11390390	Standard	NM_052955		Approved	TGMZ	uc001zrf.1	Q96PF1		ENST00000452443.2:c.790C>T	15.37:g.43579553G>A	ENSP00000389466:p.Gln264*						p.Q264*	NM_052955.2	NP_443187.1	Q96PF1	TGM7_HUMAN		GBM - Glioblastoma multiforme(94;9.14e-07)	6	794	-		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)	264						Nonsense_Mutation	SNP	ENST00000452443.2	37	c.790C>T	CCDS32213.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.950109	0.73787	.	.	ENSG00000159495	ENST00000452443	.	.	.	5.8	1.36	0.22044	.	0.107875	0.64402	D	0.000014	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.10377	T	0.69	-21.2424	5.0976	0.14742	0.1573:0.0:0.4629:0.3798	.	.	.	.	X	264	.	ENSP00000389466:Q264X	Q	-	1	0	TGM7	41366845	0.002000	0.14202	1.000000	0.80357	0.795000	0.44927	0.253000	0.18296	0.771000	0.33359	0.591000	0.81541	CAG		0.592	TGM7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432489.1	NM_052955		3	61	0	0	0	1	0	3	61					A	43579553	G	A	43579553	4	1	188	1	0	0	0	0	0	1	0	0	15832	1386	48	3	1374	3	TGM7	15	43579553	Nonsense_Mutation	SNP	G	TCGA-G9-7525-01A-31D-2260-08	947630	43579553	58951839	47	8807											
WDR72	256764	broad.mit.edu	37	chr15	53992051	53992051	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcacaggaaaaaggtgcttcCgggcatgcaggaggcaactc	12	6	13	10	1	1	0	1	0	0	0	3	2	2	2	1	5	3	4	1	5	3	1			TCGA-G9-7525-01A-31D-2260-08	TCGA-G9-7525-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e92edf41-954e-46d6-b1ec-63e2d070f16f	476829e1-ad0a-4621-9ec5-7e20e881c540	g.chr15:53992051C>T	ENST00000396328.1	-	13	1900	c.1661G>A	c.(1660-1662)cGg>cAg	p.R554Q	WDR72_ENST00000559418.1_Missense_Mutation_p.R564Q|WDR72_ENST00000557913.1_Missense_Mutation_p.R551Q|WDR72_ENST00000360509.5_Missense_Mutation_p.R554Q	NM_001277176.1|NM_182758.2	NP_001264105.1|NP_877435.3	Q3MJ13	WDR72_HUMAN	WD repeat domain 72	554										NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	71				all cancers(107;0.0511)		AAGGTGCTTCCGGGCATGCAG	0.458																																						ENST00000396328.1																			0				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	71						c.(1660-1662)cGg>cAg		WD repeat domain 72							122	128	126					15																	53992051		2194	4293	6487	SO:0001583	missense	256764							g.chr15:53992051C>T	BX537884	CCDS10151.1, CCDS73730.1	15q21.3	2013-01-09			ENSG00000166415	ENSG00000166415		"WD repeat domain containing"	26790	protein-coding gene	gene with protein product		613214					Standard	NM_182758		Approved	FLJ38736	uc002acj.2	Q3MJ13	OTTHUMG00000131939	ENST00000396328.1:c.1661G>A	15.37:g.53992051C>T	ENSP00000379619:p.Arg554Gln					WDR72_ENST00000557913.1_Missense_Mutation_p.R551Q|WDR72_ENST00000559418.1_Missense_Mutation_p.R564Q|WDR72_ENST00000360509.5_Missense_Mutation_p.R554Q	p.R554Q	NM_001277176.1|NM_182758.2	NP_001264105.1|NP_877435.3	Q3MJ13	WDR72_HUMAN		all cancers(107;0.0511)	13	1900	-			554					Q7Z3I3|Q8N8X2	Missense_Mutation	SNP	ENST00000396328.1	37	c.1661G>A	CCDS10151.1	.	.	.	.	.	.	.	.	.	.	C	16.90	3.248941	0.59103	.	.	ENSG00000166415	ENST00000396328;ENST00000360509	T;T	0.60672	0.17;0.17	5.72	4.79	0.61399	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.071260	0.56097	D	0.000026	T	0.45155	0.1328	L	0.36672	1.1	0.31295	N	0.688932	P	0.40731	0.728	B	0.33454	0.164	T	0.59354	-0.7470	10	0.54805	T	0.06	.	14.7573	0.69576	0.0:0.9272:0.0:0.0728	.	554	Q3MJ13	WDR72_HUMAN	Q	554	ENSP00000379619:R554Q;ENSP00000353699:R554Q	ENSP00000353699:R554Q	R	-	2	0	WDR72	51779343	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	3.189000	0.50965	2.865000	0.98341	0.655000	0.94253	CGG		0.458	WDR72-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254893.2	NM_182758		43	109	0	0	0	1	0	43	109					T	53992051	C	T	53992051	3	4	188	1	0	0	0	0	1	0	0	0	17319	652	23	2	1679	2	WDR72	15	53992051	Missense_Mutation	SNP	C	TCGA-G9-7525-01A-31D-2260-08	10412498	53992051	48539341	48	8808											
SOX8	30812	broad.mit.edu	37	chr16	1033810	1033810	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acaagaaggaccaccccgacTacaagtaccagccacggcgc	14	2	9	16	3	0	1	0	0	0	1	0	3	0	2	5	2	3	1	5	2	5	2			TCGA-G9-7525-01A-31D-2260-08	TCGA-G9-7525-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e92edf41-954e-46d6-b1ec-63e2d070f16f	476829e1-ad0a-4621-9ec5-7e20e881c540	g.chr16:1033810T>G	ENST00000293894.3	+	2	620	c.505T>G	c.(505-507)Tac>Gac	p.Y169D	RP11-161M6.2_ENST00000565467.1_lincRNA	NM_014587.3	NP_055402.2	P57073	SOX8_HUMAN	SRY (sex determining region Y)-box 8	169					adipose tissue development (GO:0060612)|astrocyte fate commitment (GO:0060018)|cell fate commitment (GO:0045165)|cell maturation (GO:0048469)|enteric nervous system development (GO:0048484)|fat cell differentiation (GO:0045444)|in utero embryonic development (GO:0001701)|male gonad development (GO:0008584)|metanephric nephron tubule formation (GO:0072289)|morphogenesis of a branching epithelium (GO:0061138)|negative regulation of apoptotic process (GO:0043066)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of photoreceptor cell differentiation (GO:0046533)|negative regulation of transcription, DNA-templated (GO:0045892)|neural crest cell migration (GO:0001755)|oligodendrocyte differentiation (GO:0048709)|osteoblast differentiation (GO:0001649)|peripheral nervous system development (GO:0007422)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of gliogenesis (GO:0014015)|positive regulation of kidney development (GO:0090184)|positive regulation of osteoblast proliferation (GO:0033690)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of hormone levels (GO:0010817)|renal vesicle induction (GO:0072034)|retina development in camera-type eye (GO:0060041)|retinal rod cell differentiation (GO:0060221)|Sertoli cell development (GO:0060009)|signal transduction (GO:0007165)|skeletal muscle cell differentiation (GO:0035914)|spermatogenesis (GO:0007283)|ureter morphogenesis (GO:0072197)	cytoplasm (GO:0005737)|nuclear transcription factor complex (GO:0044798)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			central_nervous_system(1)|kidney(1)|lung(5)|prostate(2)|skin(1)	10		Hepatocellular(780;0.00308)				CCACCCCGACTACAAGTACCA	0.682																																						ENST00000293894.3																			0				central_nervous_system(1)|kidney(1)|lung(5)|prostate(2)|skin(1)	10						c.(505-507)Tac>Gac		SRY (sex determining region Y)-box 8							50	45	47					16																	1033810		2198	4300	6498	SO:0001583	missense	30812				adipose tissue development|enteric nervous system development|fat cell differentiation|in utero embryonic development|metanephric nephron tubule formation|morphogenesis of a branching epithelium|negative regulation of apoptosis|negative regulation of myoblast differentiation|negative regulation of transcription, DNA-dependent|neural crest cell migration|oligodendrocyte differentiation|osteoblast differentiation|peripheral nervous system development|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of gliogenesis|positive regulation of osteoblast proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of hormone levels|renal vesicle induction|retinal rod cell differentiation|Sertoli cell development|signal transduction|spermatogenesis|ureter morphogenesis	cytoplasm|nucleus		g.chr16:1033810T>G	AF164104	CCDS10428.1	16p13.3	2008-05-23			ENSG00000005513	ENSG00000005513		"SRY (sex determining region Y)-boxes"	11203	protein-coding gene	gene with protein product		605923				10662550, 10684944	Standard	NM_014587		Approved		uc002ckn.3	P57073	OTTHUMG00000122101	ENST00000293894.3:c.505T>G	16.37:g.1033810T>G	ENSP00000293894:p.Tyr169Asp						p.Y169D	NM_014587.3	NP_055402.2	P57073	SOX8_HUMAN			2	620	+		Hepatocellular(780;0.00308)	169					Q9NZW2	Missense_Mutation	SNP	ENST00000293894.3	37	c.505T>G	CCDS10428.1	.	.	.	.	.	.	.	.	.	.	T	32	5.175144	0.94807	.	.	ENSG00000005513	ENST00000293894	D	0.97642	-4.47	4.77	4.77	0.60923	High mobility group, superfamily (1);High mobility group, HMG1/HMG2 (4);	0.000000	0.85682	D	0.000000	D	0.99149	0.9706	H	0.99117	4.435	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.98669	1.0687	10	0.87932	D	0	.	13.7626	0.62975	0.0:0.0:0.0:1.0	.	169	P57073	SOX8_HUMAN	D	169	ENSP00000293894:Y169D	ENSP00000293894:Y169D	Y	+	1	0	SOX8	973811	1.000000	0.71417	0.997000	0.53966	0.986000	0.74619	6.029000	0.70895	1.911000	0.55334	0.533000	0.62120	TAC		0.682	SOX8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000242867.1			3	40	0	0	0	1	0	3	40					G	1033810	T	G	1033810	3	3	188	1	0	0	0	0	1	0	0	0	14957	1522	53	5	511	5	SOX8	16	1033810	Missense_Mutation	SNP	T	TCGA-G9-7525-01A-31D-2260-08		1033810	89320943	49	8809											
AARS	118460	broad.mit.edu	37	chr16	70287871	70287871	+	5'Flank	DEL	T	T	-																															ggtccaagtcatccatgaccTtctttagggatttgagagtc																										TCGA-G9-7525-01A-31D-2260-08	TCGA-G9-7525-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e92edf41-954e-46d6-b1ec-63e2d070f16f	476829e1-ad0a-4621-9ec5-7e20e881c540	g.chr16:70287871delT	ENST00000435634.1	-	0	0				AARS_ENST00000564359.1_5'Flank|AARS_ENST00000261772.8_Frame_Shift_Del_p.K824fs	NM_058219.2	NP_478126.1	Q5RKV6	EXOS6_HUMAN	exosome component 6						DNA deamination (GO:0045006)|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|isotype switching (GO:0045190)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)|rRNA processing (GO:0006364)	cytosol (GO:0005829)|exosome (RNase complex) (GO:0000178)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)										ATCCATGACCTTCTTTAGGGA	0.552											OREG0023912	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000261772.8																			0				breast(3)|cervix(2)|endometrium(5)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(1)	27						c.(2470-2472)agfs		alanyl-tRNA synthetase	L-Alanine(DB00160)						121	116	118					16																	70287871		2198	4300	6498	SO:0001631	upstream_gene_variant	16				alanyl-tRNA aminoacylation|tRNA processing	cytosol|soluble fraction	alanine-tRNA ligase activity|ATP binding|metal ion binding|tRNA binding	g.chr16:70287871delT	BC052252	CCDS10887.1	16q22.1	2008-02-05			ENSG00000223496	ENSG00000223496			19055	protein-coding gene	gene with protein product	"Mtr3 (mRNA transport regulator 3)-homolog (yeast)"	606490				11719186, 12419256	Standard	NM_058219		Approved	MTR3, hMtr3p, Mtr3p, EAP4, p11	uc002eym.1	Q5RKV6	OTTHUMG00000137578		16.37:g.70287871delT	Exception_encountered		OREG0023912	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1121		p.K824fs	NM_001605.2	NP_001596.2	P49588	SYAC_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.161)	18	2614	-		Ovarian(137;0.0365)	824						Frame_Shift_Del	DEL	ENST00000435634.1	37	c.2471delA	CCDS10887.1																																																																																				0.552	EXOSC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268966.1	NM_058219		28	165						28	165	---	---	---	---	-	70287871	T	-	70287871	6	5	188	0	1	1	0	1	0	0	0	0	19	1609	56	0		0	AARS	16	70287871	5'Flank	DEL	T	TCGA-G9-7525-01A-31D-2260-08	69254061	70287871	20066882	50	8810											
MYO15A	51168	broad.mit.edu	37	chr17	18022689	18022689	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccggctccggaggttcccccGcagccgcagcatctacgcgt	5	6	12	18	6	1	0	0	0	1	0	3	1	3	1	5	3	3	5	5	3	1	2			TCGA-G9-7525-01A-31D-2260-08	TCGA-G9-7525-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e92edf41-954e-46d6-b1ec-63e2d070f16f	476829e1-ad0a-4621-9ec5-7e20e881c540	g.chr17:18022689G>A	ENST00000205890.5	+	2	913	c.575G>A	c.(574-576)cGc>cAc	p.R192H		NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	192					inner ear morphogenesis (GO:0042472)|locomotory behavior (GO:0007626)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|stereocilium (GO:0032420)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					AGGTTCCCCCGCAGCCGCAGC	0.711																																						ENST00000205890.5																			0				breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99						c.(574-576)cGc>cAc		myosin XVA							18	21	20					17																	18022689		1931	4122	6053	SO:0001583	missense	51168				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity	g.chr17:18022689G>A	AF144094	CCDS42271.1	17p11.2	2011-09-27			ENSG00000091536	ENSG00000091536		"Myosins / Myosin superfamily : Class XV"	7594	protein-coding gene	gene with protein product		602666		DFNB3, MYO15		9603736	Standard	NM_016239		Approved		uc021trl.1	Q9UKN7	OTTHUMG00000059390	ENST00000205890.5:c.575G>A	17.37:g.18022689G>A	ENSP00000205890:p.Arg192His						p.R192H	NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN			2	913	+	all_neural(463;0.228)		192			Myosin head-like.		B4DFC7	Missense_Mutation	SNP	ENST00000205890.5	37	c.575G>A	CCDS42271.1	.	.	.	.	.	.	.	.	.	.	G	25.0	4.594377	0.86953	.	.	ENSG00000091536	ENST00000205890	D	0.91011	-2.77	5.34	5.34	0.76211	.	.	.	.	.	D	0.91858	0.7423	L	0.29908	0.895	0.80722	D	1	D	0.76494	0.999	P	0.62184	0.899	D	0.92691	0.6166	9	0.59425	D	0.04	.	18.6236	0.91330	0.0:0.0:1.0:0.0	.	192	Q9UKN7	MYO15_HUMAN	H	192	ENSP00000205890:R192H	ENSP00000205890:R192H	R	+	2	0	MYO15A	17963414	0.997000	0.39634	0.999000	0.59377	0.919000	0.55068	4.605000	0.61119	2.481000	0.83766	0.555000	0.69702	CGC		0.711	MYO15A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132048.1	NM_016239		3	25	0	0	0	1	0	3	25					A	18022689	G	A	18022689	3	1	188	1	0	0	0	0	1	0	0	0	10063	1087	38	1	577	1	MYO15A	17	18022689	Missense_Mutation	SNP	G	TCGA-G9-7525-01A-31D-2260-08		18022689	63172521	51	8811											
KIAA0100	9703	broad.mit.edu	37	chr17	26951278	26951278	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttgaccaattcaataaggcaGtttcggttgtatatgtcatc	11	15	8	7	1	2	1	2	1	0	0	4	1	2	1	1	2	0	4	1	2	5	7			TCGA-G9-7525-01A-31D-2260-08	TCGA-G9-7525-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e92edf41-954e-46d6-b1ec-63e2d070f16f	476829e1-ad0a-4621-9ec5-7e20e881c540	g.chr17:26951278G>A	ENST00000528896.2	-	25	4799	c.4725C>T	c.(4723-4725)aaC>aaT	p.N1575N	KIAA0100_ENST00000544884.1_Silent_p.N1432N|KIAA0100_ENST00000389003.3_Silent_p.N1432N	NM_014680.3	NP_055495.2	Q14667	K0100_HUMAN	KIAA0100	1575						extracellular region (GO:0005576)				breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3)	68	Lung NSC(42;0.00431)					CAATAAGGCAGTTTCGGTTGT	0.453																																						ENST00000528896.2																			0				breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3)	68						c.(4723-4725)aaC>aaT		KIAA0100							195	158	171					17																	26951278		2203	4300	6503	SO:0001819	synonymous_variant	9703					extracellular region		g.chr17:26951278G>A	D43947	CCDS32595.1	17q11.2	2012-11-29			ENSG00000007202	ENSG00000007202			28960	protein-coding gene	gene with protein product	"cancer/testis antigen 101", "breast cancer overexpressed gene 1"	610664				16289875	Standard	NM_014680		Approved	DKFZp686M0843, MGC111488, BCOX1, CT101, BCOX	uc002hbu.3	Q14667	OTTHUMG00000166587	ENST00000528896.2:c.4725C>T	17.37:g.26951278G>A						KIAA0100_ENST00000544884.1_Silent_p.N1432N|KIAA0100_ENST00000389003.3_Silent_p.N1432N	p.N1575N	NM_014680.3	NP_055495.2	Q14667	K0100_HUMAN			25	4799	-	Lung NSC(42;0.00431)		1575					A6NCX3|Q3SYN5|Q49A07|Q5H9T4|Q6WG74|Q6ZP51|Q96HH8	Silent	SNP	ENST00000528896.2	37	c.4725C>T	CCDS32595.1																																																																																				0.453	KIAA0100-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390571.3	NM_014680		3	105	0	0	0	1	0	3	105					A	26951278	G	A	26951278	2	1	188	1	0	0	0	0	0	0	0	1	8154	1020	36	3		3	KIAA0100	17	26951278	Silent	SNP	G	TCGA-G9-7525-01A-31D-2260-08	8928589	26951278	54243932	52	8812											
HSF5	124535	broad.mit.edu	37	chr17	56565351	56565351	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtttgccgccccccggcccGcccagcaccaccttgcggaa	5	5	11	20	4	0	0	0	0	0	0	0	1	0	1	8	3	3	2	8	3	1	2	rs559562864		TCGA-G9-7525-01A-31D-2260-08	TCGA-G9-7525-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e92edf41-954e-46d6-b1ec-63e2d070f16f	476829e1-ad0a-4621-9ec5-7e20e881c540	g.chr17:56565351G>A	ENST00000323777.3	-	1	394	c.285C>T	c.(283-285)ggC>ggT	p.G95G		NM_001080439.1	NP_001073908.1	Q4G112	HSF5_HUMAN	heat shock transcription factor family member 5	95					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(3)|skin(1)	16	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CCCCCGGCCCGCCCAGCACCA	0.682													G|||	1	0.000199681	0	0	5008	,	,		11561	0		0.001	False		,,,				2504	0					ENST00000323777.3																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(3)|skin(1)	16						c.(283-285)ggC>ggT		heat shock transcription factor family member 5							24	26	25					17																	56565351		2196	4294	6490	SO:0001819	synonymous_variant	124535					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr17:56565351G>A	BC033020	CCDS32690.1	17q23.2	2006-04-25				ENSG00000176160			26862	protein-coding gene	gene with protein product							Standard	NM_001080439		Approved	FLJ40311	uc002iwi.1	Q4G112		ENST00000323777.3:c.285C>T	17.37:g.56565351G>A							p.G95G	NM_001080439.1	NP_001073908.1	Q4G112	HSF5_HUMAN			1	394	-	Medulloblastoma(34;0.127)|all_neural(34;0.237)		95					Q08EH7|Q8N7V2	Silent	SNP	ENST00000323777.3	37	c.285C>T	CCDS32690.1																																																																																				0.682	HSF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444719.1	XM_064190		3	44	0	0	0	1	0	3	44					A	56565351	G	A	56565351	2	1	188	1	0	0	0	0	0	0	0	1	7399	1074	38	1		1	HSF5	17	56565351	Silent	SNP	G	TCGA-G9-7525-01A-31D-2260-08	29614073	56565351	24629859	53	8813											
NETO1	81832	broad.mit.edu	37	chr18	70423359	70423359	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	acacatgttactatggcagaAgaatgtgttgccttcacaag	13	11	9	8	0	1	2	1	0	0	2	1	2	1	2	1	1	2	3	1	1	5	4			TCGA-G9-7525-01A-31D-2260-08	TCGA-G9-7525-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e92edf41-954e-46d6-b1ec-63e2d070f16f	476829e1-ad0a-4621-9ec5-7e20e881c540	g.chr18:70423359A>C	ENST00000327305.6	-	8	1549	c.892T>G	c.(892-894)Ttc>Gtc	p.F298V	NETO1_ENST00000299430.2_Missense_Mutation_p.F297V|NETO1_ENST00000583169.1_Missense_Mutation_p.F298V	NM_138966.3	NP_620416	Q8TDF5	NETO1_HUMAN	neuropilin (NRP) and tolloid (TLL)-like 1	298	LDL-receptor class A. {ECO:0000255|PROSITE-ProRule:PRU00124}.				memory (GO:0007613)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|receptor localization to synapse (GO:0097120)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|visual learning (GO:0008542)	cell junction (GO:0030054)|excitatory synapse (GO:0060076)|extracellular region (GO:0005576)|kainate selective glutamate receptor complex (GO:0032983)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)				NS(3)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(36)|ovary(2)|prostate(3)|skin(3)|stomach(1)	63		Esophageal squamous(42;0.129)		READ - Rectum adenocarcinoma(1;0.0487)		CTATGGCAGAAGAATGTGTTG	0.353																																						ENST00000327305.6																			0				NS(3)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(36)|ovary(2)|prostate(3)|skin(3)|stomach(1)	63						c.(892-894)Ttc>Gtc		neuropilin (NRP) and tolloid (TLL)-like 1							100	96	97					18																	70423359		2203	4300	6503	SO:0001583	missense	81832				memory|regulation of long-term neuronal synaptic plasticity|visual learning	cell junction|excitatory synapse|extracellular region|integral to membrane|postsynaptic density|postsynaptic membrane	receptor activity	g.chr18:70423359A>C	AF448838	CCDS12000.1, CCDS42444.1	18q22.2	2008-08-01			ENSG00000166342	ENSG00000166342			13823	protein-coding gene	gene with protein product		607973				11943477, 12810072	Standard	NM_138999		Approved	BTCL1, BCTL1	uc002lkw.3	Q8TDF5	OTTHUMG00000132834	ENST00000327305.6:c.892T>G	18.37:g.70423359A>C	ENSP00000313088:p.Phe298Val					NETO1_ENST00000583169.1_Missense_Mutation_p.F298V|NETO1_ENST00000299430.2_Missense_Mutation_p.F297V	p.F298V	NM_138966.3	NP_620416.1	Q8TDF5	NETO1_HUMAN		READ - Rectum adenocarcinoma(1;0.0487)	8	1549	-		Esophageal squamous(42;0.129)	298			LDL-receptor class A.		Q86W85|Q8ND78|Q8TDF4	Missense_Mutation	SNP	ENST00000327305.6	37	c.892T>G	CCDS12000.1	.	.	.	.	.	.	.	.	.	.	A	22.9	4.349816	0.82132	.	.	ENSG00000166342	ENST00000327305;ENST00000299430	D;D	0.95238	-3.65;-3.65	5.41	5.41	0.78517	.	0.000000	0.56097	D	0.000035	D	0.96494	0.8856	M	0.61703	1.905	0.80722	D	1	D;D	0.89917	0.996;1.0	D;D	0.80764	0.986;0.994	D	0.96705	0.9521	10	0.56958	D	0.05	-14.5672	15.7499	0.77976	1.0:0.0:0.0:0.0	.	297;298	Q8TDF5-2;Q8TDF5	.;NETO1_HUMAN	V	298;297	ENSP00000313088:F298V;ENSP00000299430:F297V	ENSP00000299430:F297V	F	-	1	0	NETO1	68574339	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.287000	0.95975	2.188000	0.69820	0.533000	0.62120	TTC		0.353	NETO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256301.2	NM_138999		21	34	0	0	0	1	0	21	34					C	70423359	A	C	70423359	3	2	188	1	0	0	0	0	1	0	0	0	10339	72	3	5	721	5	NETO1	18	70423359	Missense_Mutation	SNP	A	TCGA-G9-7525-01A-31D-2260-08		70423359	7653889	54	8814											
OR7C1	26664	broad.mit.edu	37	chr19	14910064	14910064	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cccagggccctcttcatgtcCgtgttcctcaggctgtagat	5	12	10	14	1	3	1	2	0	1	1	5	1	5	1	4	2	0	3	4	2	1	3	rs147900560		TCGA-G9-7525-01A-31D-2260-08	TCGA-G9-7525-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e92edf41-954e-46d6-b1ec-63e2d070f16f	476829e1-ad0a-4621-9ec5-7e20e881c540	g.chr19:14910064C>A	ENST00000248073.2	-	1	959	c.885G>T	c.(883-885)acG>acT	p.T295T	OR7A5_ENST00000601611.1_Intron	NM_198944.1	NP_945182.1	O76099	OR7C1_HUMAN	olfactory receptor, family 7, subfamily C, member 1	295					spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(2)|ovary(2)|prostate(1)	18						TCTTCATGTCCGTGTTCCTCA	0.522																																						ENST00000248073.2																			0				breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(2)|ovary(2)|prostate(1)	18						c.(883-885)acG>acT		olfactory receptor, family 7, subfamily C, member 1							83	83	83					19																	14910064		2203	4300	6503	SO:0001819	synonymous_variant	26664				sensory perception of smell|spermatogenesis	integral to membrane|plasma membrane	olfactory receptor activity	g.chr19:14910064C>A	X89676	CCDS12317.1	19p13.1	2012-08-09						"GPCR / Class A : Olfactory receptors"	8373	protein-coding gene	gene with protein product				OR7C4			Standard	NM_198944		Approved	OR19-5	uc010xnz.2	O76099		ENST00000248073.2:c.885G>T	19.37:g.14910064C>A						OR7A5_ENST00000601611.1_Intron	p.T295T	NM_198944.1	NP_945182.1	O76099	OR7C1_HUMAN			1	959	-			295					Q15621|Q6IFP2|Q96R94	Silent	SNP	ENST00000248073.2	37	c.885G>T	CCDS12317.1																																																																																				0.522	OR7C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466519.1			3	83	1	0	0.00909568	1	0.00923349	3	83					A	14910064	C	A	14910064	2	1	188	1	0	0	0	0	0	0	0	1	11217	639	23	5		5	OR7C1	19	14910064	Silent	SNP	C	TCGA-G9-7525-01A-31D-2260-08		14910064	44218919	55	8815											
LIG1	3978	broad.mit.edu	37	chr19	48621022	48621022	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccgcacgtaagggcgtgggCtgggcagcaccagcgcctgc	6	5	16	14	4	0	0	0	0	0	0	1	0	1	0	3	3	3	5	3	3	1	1			TCGA-G9-7525-01A-31D-2260-08	TCGA-G9-7525-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e92edf41-954e-46d6-b1ec-63e2d070f16f	476829e1-ad0a-4621-9ec5-7e20e881c540	g.chr19:48621022C>A	ENST00000263274.7	-	26	2875	c.2456G>T	c.(2455-2457)aGc>aTc	p.S819I	CTC-453G23.5_ENST00000596563.1_RNA|LIG1_ENST00000536218.1_Missense_Mutation_p.S751I|CTC-453G23.5_ENST00000596839.1_RNA|LIG1_ENST00000427526.2_Missense_Mutation_p.S788I	NM_000234.1	NP_000225.1	P18858	DNLI1_HUMAN	ligase I, DNA, ATP-dependent	819					anatomical structure morphogenesis (GO:0009653)|base-excision repair (GO:0006284)|cell division (GO:0051301)|DNA biosynthetic process (GO:0071897)|DNA ligation involved in DNA repair (GO:0051103)|DNA metabolic process (GO:0006259)|DNA repair (GO:0006281)|DNA strand elongation involved in DNA replication (GO:0006271)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|double-strand break repair via nonhomologous end joining (GO:0006303)|lagging strand elongation (GO:0006273)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|response to hydrogen peroxide (GO:0042542)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	chromosome (GO:0005694)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA ligase (ATP) activity (GO:0003910)|DNA ligase activity (GO:0003909)|metal ion binding (GO:0046872)			breast(1)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(22)|prostate(2)|skin(1)	44		all_epithelial(76;3.1e-06)|all_lung(116;4.39e-06)|Lung NSC(112;8.96e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;8.45e-05)|all cancers(93;0.000423)|Epithelial(262;0.0177)|GBM - Glioblastoma multiforme(486;0.0329)	Bleomycin(DB00290)	AGGGCGTGGGCTGGGCAGCAC	0.622								Nucleotide excision repair (NER)																														ENST00000263274.7																			0				breast(1)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(22)|prostate(2)|skin(1)	44						c.(2455-2457)aGc>aTc	Nucleotide excision repair (NER)	ligase I, DNA, ATP-dependent	Bleomycin(DB00290)						34	30	32					19																	48621022		2203	4300	6503	SO:0001583	missense	3978				anatomical structure morphogenesis|base-excision repair|cell division|DNA ligation involved in DNA repair|DNA strand elongation involved in DNA replication|double-strand break repair via homologous recombination|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding	g.chr19:48621022C>A		CCDS12711.1, CCDS74409.1, CCDS74410.1	19q13.2-q13.3	2014-09-17				ENSG00000105486	6.5.1.1		6598	protein-coding gene	gene with protein product		126391					Standard	XM_005258934		Approved		uc002pia.1	P18858		ENST00000263274.7:c.2456G>T	19.37:g.48621022C>A	ENSP00000263274:p.Ser819Ile					LIG1_ENST00000536218.1_Missense_Mutation_p.S751I|LIG1_ENST00000427526.2_Missense_Mutation_p.S788I	p.S819I	NM_000234.1	NP_000225.1	P18858	DNLI1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;8.45e-05)|all cancers(93;0.000423)|Epithelial(262;0.0177)|GBM - Glioblastoma multiforme(486;0.0329)	26	2875	-		all_epithelial(76;3.1e-06)|all_lung(116;4.39e-06)|Lung NSC(112;8.96e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)	819					B2RAI8|Q2TB12|Q32P23	Missense_Mutation	SNP	ENST00000263274.7	37	c.2456G>T	CCDS12711.1	.	.	.	.	.	.	.	.	.	.	C	3.985	-0.005608	0.07773	.	.	ENSG00000105486	ENST00000263274;ENST00000427526;ENST00000536218	T;T;T	0.64618	-0.11;-0.11;-0.11	4.59	-0.836	0.10770	DNA ligase, ATP-dependent, C-terminal (1);Nucleic acid-binding, OB-fold-like (1);Nucleic acid-binding, OB-fold (1);	0.771347	0.11816	N	0.526720	T	0.53867	0.1823	L	0.33710	1.025	0.09310	N	0.999998	B;B;B	0.25272	0.013;0.053;0.122	B;B;B	0.27796	0.029;0.083;0.068	T	0.49072	-0.8977	10	0.49607	T	0.09	-0.9344	18.3531	0.90345	0.0:0.7395:0.2605:0.0	.	788;751;819	B4DTU4;F5GZ28;P18858	.;.;DNLI1_HUMAN	I	819;788;751	ENSP00000263274:S819I;ENSP00000442841:S788I;ENSP00000441531:S751I	ENSP00000263274:S819I	S	-	2	0	LIG1	53312834	0.000000	0.05858	0.012000	0.15200	0.005000	0.04900	0.183000	0.16919	-0.116000	0.11893	-0.311000	0.09066	AGC		0.622	LIG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465575.1	NM_000234		5	22	1	0	0.184627	1	0.184627	5	22					A	48621022	C	A	48621022	3	1	188	1	0	0	0	0	1	0	0	0	8781	797	28	5	315	5	LIG1	19	48621022	Missense_Mutation	SNP	C	TCGA-G9-7525-01A-31D-2260-08	33710958	48621022	10507961	56	8816											
PANK2	80025	broad.mit.edu	37	chr20	3893120	3893120	+	Frame_Shift_Del	DEL	T	T	-																															catagtcttggaggaggaacTttttttggtctctgctgtct																										TCGA-G9-7525-01A-31D-2260-08	TCGA-G9-7525-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e92edf41-954e-46d6-b1ec-63e2d070f16f	476829e1-ad0a-4621-9ec5-7e20e881c540	g.chr20:3893120delT	ENST00000316562.4	+	4	1257	c.1251delT	c.(1249-1251)actfs	p.T417fs	PANK2_ENST00000464452.1_3'UTR|PANK2_ENST00000610179.1_Frame_Shift_Del_p.T294fs|PANK2_ENST00000497424.1_Frame_Shift_Del_p.T126fs	NM_153638.2	NP_705902.2	Q9BZ23	PANK2_HUMAN	pantothenate kinase 2	417					aerobic respiration (GO:0009060)|cell death (GO:0008219)|coenzyme A biosynthetic process (GO:0015937)|coenzyme biosynthetic process (GO:0009108)|mitochondrion morphogenesis (GO:0070584)|pantothenate metabolic process (GO:0015939)|regulation of mitochondrial membrane potential (GO:0051881)|small molecule metabolic process (GO:0044281)|spermatid development (GO:0007286)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial intermembrane space (GO:0005758)	ATP binding (GO:0005524)|pantothenate kinase activity (GO:0004594)			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						GAGGAGGAACTTTTTTTGGTC	0.343																																						ENST00000497424.1																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						c.(376-378)acfs		pantothenate kinase 2							141	152	148					20																	3893120		2203	4300	6503	SO:0001589	frameshift_variant	80025				cell death|coenzyme A biosynthetic process|pantothenate metabolic process	mitochondrial intermembrane space|nucleus	ATP binding|pantothenate kinase activity|protein binding	g.chr20:3893120delT	AK021791	CCDS13071.2, CCDS13072.1	20p13	2008-07-31	2008-07-31	2002-09-06	ENSG00000125779	ENSG00000125779	2.7.1.33		15894	protein-coding gene	gene with protein product	"Hallervorden-Spatz syndrome"	606157	"neurodegeneration with brain iron accumulation 1 (Hallervorden-Spatz syndrome)"	C20orf48, NBIA1		8944032, 11479594	Standard	XM_005260835		Approved	HSS, FLJ11729, PKAN, HARP	uc002wkc.3	Q9BZ23	OTTHUMG00000031768	ENST00000316562.4:c.1251delT	20.37:g.3893120delT	ENSP00000313377:p.Thr417fs					PANK2_ENST00000336066.3_3'UTR|PANK2_ENST00000316562.4_Frame_Shift_Del_p.T417fs	p.T126fs	NM_024960.4|NM_153640.2	NP_079236.3|NP_705904.1	Q9BZ23	PANK2_HUMAN			4	689	+			417		G -> A (in dbSNP:rs3737084).			B1AK33|B2Z3X0|D3DVZ0|Q5T7I2|Q5T7I4|Q7RTX5|Q8N7Q4|Q8TCR5|Q9BYW5|Q9HAF2	Frame_Shift_Del	DEL	ENST00000316562.4	37	c.378delT	CCDS13071.2																																																																																				0.343	PANK2-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000077793.2	NM_024960		8	229						8	229	---	---	---	---	-	3893120	T	-	3893120	7	5	188	1	0	1	0	1	0	0	0	0	11417	1596	56	0	1265	0	PANK2	20	3893120	Frame_Shift_Del	DEL	T	TCGA-G9-7525-01A-31D-2260-08		3893120	59132400	57	8817											
TMEM184B	25829	broad.mit.edu	37	chr22	38641959	38641959	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accctcatagcagtcgcggaCggtgccgaagtacacgtagt	10	7	12	12	5	1	0	1	0	0	0	2	2	1	1	2	2	3	3	2	2	4	3	rs201541960		TCGA-G9-7525-01A-31D-2260-08	TCGA-G9-7525-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e92edf41-954e-46d6-b1ec-63e2d070f16f	476829e1-ad0a-4621-9ec5-7e20e881c540	g.chr22:38641959C>T	ENST00000361906.3	-	3	548	c.340G>A	c.(340-342)Gtc>Atc	p.V114I	TMEM184B_ENST00000361684.4_Missense_Mutation_p.V114I	NM_001195072.1|NM_012264.4	NP_001182001.1|NP_036396.2	Q9Y519	T184B_HUMAN	transmembrane protein 184B	114						integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(2)|lung(2)|skin(2)|upper_aerodigestive_tract(1)	8	Melanoma(58;0.045)					CAGTCGCGGACGGTGCCGAAG	0.647													C|||	1	0.000199681	0	0	5008	,	,		12454	0.001		0	False		,,,				2504	0					ENST00000361906.3																			0				endometrium(1)|large_intestine(2)|lung(2)|skin(2)|upper_aerodigestive_tract(1)	8						c.(340-342)Gtc>Atc		transmembrane protein 184B							75	61	66					22																	38641959		2203	4300	6503	SO:0001583	missense	25829					integral to membrane		g.chr22:38641959C>T	AL096879	CCDS13969.2	22q12	2008-02-04	2007-07-11	2007-07-11	ENSG00000198792	ENSG00000198792			1310	protein-coding gene	gene with protein product			"chromosome 22 open reading frame 5"	C22orf5		10591208	Standard	NM_012264		Approved	HS5O6A, DKFZP586A1024, FM08	uc003avf.1	Q9Y519	OTTHUMG00000030557	ENST00000361906.3:c.340G>A	22.37:g.38641959C>T	ENSP00000355210:p.Val114Ile					TMEM184B_ENST00000361684.4_Missense_Mutation_p.V114I	p.V114I	NM_001195072.1|NM_012264.4	NP_001182001.1|NP_036396.2	Q9Y519	T184B_HUMAN			3	548	-	Melanoma(58;0.045)		114					A8K9D7|Q63HM8|Q7Z421|Q8NBM5|Q9UGT8|Q9UGT9|Q9UGV5	Missense_Mutation	SNP	ENST00000361906.3	37	c.340G>A	CCDS13969.2	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	11.17	1.559682	0.27827	.	.	ENSG00000198792	ENST00000361906;ENST00000361684;ENST00000403210	T;T;T	0.40756	1.02;1.02;1.02	4.53	4.53	0.55603	.	0.124112	0.53938	D	0.000048	T	0.23846	0.0577	N	0.11023	0.085	0.80722	D	1	B	0.20550	0.046	B	0.18263	0.021	T	0.08953	-1.0697	10	0.07175	T	0.84	.	17.2945	0.87167	0.0:1.0:0.0:0.0	.	114	Q9Y519	T184B_HUMAN	I	114;114;48	ENSP00000355210:V114I;ENSP00000354441:V114I;ENSP00000385608:V48I	ENSP00000354441:V114I	V	-	1	0	TMEM184B	36971905	0.995000	0.38212	0.976000	0.42696	0.683000	0.39861	3.198000	0.51035	2.060000	0.61445	0.549000	0.68633	GTC		0.647	TMEM184B-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075445.4	NM_012264		17	22	0	0	0	1	0	17	22					T	38641959	C	T	38641959	3	4	188	1	0	0	0	0	1	0	0	0	16102	536	19	1	911	1	TMEM184B	22	38641959	Missense_Mutation	SNP	C	TCGA-G9-7525-01A-31D-2260-08		38641959	12662607	58	8818											
JAK1	3716	broad.mit.edu	37	chr1	65311267	65311267	+	Nonsense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtggtaaggacatcgctttTccggtgcatgaagagatcca	10	11	12	8	2	0	2	0	1	0	1	3	4	2	3	2	3	1	3	2	3	2	3			TCGA-G9-A9S0-01A-11D-A41K-08	TCGA-G9-A9S0-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9650173-3de9-42ae-9cb3-0cc866860256	485bddad-e180-4a6e-ae2c-bf6336fa9bd2	g.chr1:65311267T>A	ENST00000342505.4	-	15	2292	c.2044A>T	c.(2044-2046)Aaa>Taa	p.K682*	JAK1_ENST00000465376.1_5'UTR	NM_002227.2	NP_002218.2	P23458	JAK1_HUMAN	Janus kinase 1	682	Protein kinase 1. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cytokine-mediated signaling pathway (GO:0019221)|enzyme linked receptor protein signaling pathway (GO:0007167)|interferon-gamma-mediated signaling pathway (GO:0060333)|interleukin-2-mediated signaling pathway (GO:0038110)|intracellular signal transduction (GO:0035556)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to antibiotic (GO:0046677)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|growth hormone receptor binding (GO:0005131)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)			breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(48)|kidney(3)|large_intestine(8)|liver(2)|lung(19)|ovary(1)|prostate(12)|skin(1)|soft_tissue(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	120				BRCA - Breast invasive adenocarcinoma(111;0.0485)	Ruxolitinib(DB08877)|Tofacitinib(DB08895)	ACATCGCTTTTCCGGTGCATG	0.488			Mis		ALL																																	ENST00000342505.4				Dom	yes		1	1p32.3-p31.3	3716	Mis	Janus kinase 1			L			ALL		0				breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(48)|kidney(3)|large_intestine(8)|liver(2)|lung(19)|ovary(1)|prostate(12)|skin(1)|soft_tissue(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						c.(2044-2046)Aaa>Taa		Janus kinase 1							145	151	149					1																	65311267		1951	4150	6101	SO:0001587	stop_gained	3716				interferon-gamma-mediated signaling pathway|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to antibiotic|type I interferon-mediated signaling pathway	cytoskeleton|cytosol|endomembrane system|membrane|nucleus	ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity	g.chr1:65311267T>A	M64174	CCDS41346.1	1p32.3-p31.3	2009-07-10	2009-04-23		ENSG00000162434	ENSG00000162434	2.7.10.1		6190	protein-coding gene	gene with protein product		147795		JAK1B		1848670, 7698020	Standard	NM_002227		Approved	JAK1A, JTK3	uc001dbu.1	P23458	OTTHUMG00000009310	ENST00000342505.4:c.2044A>T	1.37:g.65311267T>A	ENSP00000343204:p.Lys682*					JAK1_ENST00000465376.1_5'UTR	p.K682*	NM_002227.2	NP_002218.2	P23458	JAK1_HUMAN		BRCA - Breast invasive adenocarcinoma(111;0.0485)	15	2292	-			682			Protein kinase 1.		Q59GQ2|Q9UD26	Nonsense_Mutation	SNP	ENST00000342505.4	37	c.2044A>T	CCDS41346.1	.	.	.	.	.	.	.	.	.	.	T	41	8.652790	0.98901	.	.	ENSG00000162434	ENST00000342505	.	.	.	5.2	5.2	0.72013	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06099	T	0.92	-6.8845	15.526	0.75905	0.0:0.0:0.0:1.0	.	.	.	.	X	682	.	ENSP00000343204:K682X	K	-	1	0	JAK1	65083855	1.000000	0.71417	0.998000	0.56505	0.711000	0.40976	4.810000	0.62598	2.308000	0.77769	0.533000	0.62120	AAA		0.488	JAK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025791.1	NM_002227		9	166	0	0	0	1	0	9	166					A	65311267	T	A	65311267	4	1	189	1	0	0	0	0	0	1	0	0	7937	1792	62	5	1464	5	JAK1	1	65311267	Nonsense_Mutation	SNP	T	TCGA-G9-A9S0-01A-11D-A41K-08		65311267	183939354	1	8819											
COL11A1	1301	broad.mit.edu	37	chr1	103412512	103412512	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cccacgttctcctggtgagcCctagtatacaggaaaagaag	12	8	10	11	1	1	2	0	1	1	1	2	3	1	3	3	2	2	2	3	2	6	4			TCGA-G9-A9S0-01A-11D-A41K-08	TCGA-G9-A9S0-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9650173-3de9-42ae-9cb3-0cc866860256	485bddad-e180-4a6e-ae2c-bf6336fa9bd2	g.chr1:103412512C>T	ENST00000370096.3	-	42	3481	c.3169G>A	c.(3169-3171)Ggc>Agc	p.G1057S	COL11A1_ENST00000512756.1_Splice_Site_p.G941S|COL11A1_ENST00000358392.2_Splice_Site_p.G1069S|COL11A1_ENST00000353414.4_Splice_Site_p.G1018S	NM_001854.3	NP_001845.3	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	1057	Triple-helical region.				cartilage condensation (GO:0001502)|chondrocyte development (GO:0002063)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|embryonic skeletal system morphogenesis (GO:0048704)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|proteoglycan metabolic process (GO:0006029)|sensory perception of sound (GO:0007605)|tendon development (GO:0035989)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visual perception (GO:0007601)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		CCTGGTGAGCCCTAGTATACA	0.448																																						ENST00000358392.2																			0				NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258						c.e42-1		collagen, type XI, alpha 1							29	28	28					1																	103412512		2202	4300	6502	SO:0001630	splice_region_variant	1301				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging	g.chr1:103412512C>T	J04177	CCDS778.1, CCDS780.1, CCDS780.2, CCDS53348.1	1p21	2013-01-16			ENSG00000060718	ENSG00000060718		"Collagens"	2186	protein-coding gene	gene with protein product	"collagen XI, alpha-1 polypeptide"	120280		COLL6		3182841	Standard	NM_080630		Approved	STL2, CO11A1	uc001dul.3	P12107	OTTHUMG00000010872	ENST00000370096.3:c.3169-1G>A	1.37:g.103412512C>T						COL11A1_ENST00000370096.3_Splice_Site_p.G1057_splice|COL11A1_ENST00000512756.1_Splice_Site_p.G941_splice|COL11A1_ENST00000353414.4_Splice_Site_p.G1018_splice	p.G1069_splice	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)	42	3522	-		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)	1057			Triple-helical region.		B1ASK7|D3DT73|E9PCU0|Q14034|Q149N0|Q9UIT4|Q9UIT5|Q9UIT6	Splice_Site	SNP	ENST00000370096.3	37	c.3204_splice	CCDS778.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.017066	0.75161	.	.	ENSG00000060718	ENST00000370096;ENST00000358392;ENST00000353414;ENST00000370090;ENST00000512756	D;D;D;D	0.99329	-5.51;-5.51;-5.51;-5.75	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	D	0.99645	0.9869	H	0.94222	3.51	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.999;0.999;0.999;0.998;0.999	D	0.97909	1.0307	10	0.87932	D	0	.	19.0317	0.92960	0.0:1.0:0.0:0.0	.	941;1018;1069;1057;277	E9PCU0;P12107-3;P12107-2;P12107;F5H5Z5	.;.;.;COBA1_HUMAN;.	S	1057;1069;1018;277;941	ENSP00000359114:G1057S;ENSP00000351163:G1069S;ENSP00000302551:G1018S;ENSP00000426533:G941S	ENSP00000302551:G1018S	G	-	1	0	COL11A1	103185100	1.000000	0.71417	0.998000	0.56505	0.686000	0.39977	7.722000	0.84778	2.580000	0.87095	0.650000	0.86243	GGC		0.448	COL11A1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000029997.1	NM_080630	Missense_Mutation	7	13	0	0	0	1	0	7	13					T	103412512	C	T	103412512	5	4	189	1	0	0	0	0	0	0	1	0	3667	637	22	3	2355	3	COL11A1	1	103412512	Splice_Site	SNP	C	TCGA-G9-A9S0-01A-11D-A41K-08	38101245	103412512	145838109	2	8820											
TNR	7143	broad.mit.edu	37	chr1	175362981	175362981	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggctcccactgcacctccaCggtggtctctgtgatcgtct	4	11	11	15	2	2	1	0	1	2	0	6	1	4	1	3	3	1	2	3	3	0	0			TCGA-G9-A9S0-01A-11D-A41K-08	TCGA-G9-A9S0-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9650173-3de9-42ae-9cb3-0cc866860256	485bddad-e180-4a6e-ae2c-bf6336fa9bd2	g.chr1:175362981C>T	ENST00000367674.2	-	6	1999	c.1291G>A	c.(1291-1293)Gtg>Atg	p.V431M	TNR_ENST00000263525.2_Missense_Mutation_p.V431M			Q92752	TENR_HUMAN	tenascin R	431	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				associative learning (GO:0008306)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|locomotory exploration behavior (GO:0035641)|long-term synaptic potentiation (GO:0060291)|negative regulation of axon extension involved in regeneration (GO:0048692)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of synaptic transmission (GO:0050805)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transmission of nerve impulse (GO:0051971)|synapse organization (GO:0050808)|telencephalon cell migration (GO:0022029)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perineuronal net (GO:0072534)|proteinaceous extracellular matrix (GO:0005578)				NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					TGCACCTCCACGGTGGTCTCT	0.488																																						ENST00000367674.1																			0				NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177						c.(1291-1293)Gtg>Atg		tenascin R							202	197	199					1																	175362981		2203	4300	6503	SO:0001583	missense	7143				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix		g.chr1:175362981C>T	X98085	CCDS1318.1	1q24	2013-02-11	2012-07-12		ENSG00000116147	ENSG00000116147		"Fibrinogen C domain containing", "Fibronectin type III domain containing"	11953	protein-coding gene	gene with protein product	"restrictin", "janusin"	601995				8626505, 8940128	Standard	NM_003285		Approved		uc009wwu.1	Q92752	OTTHUMG00000034876	ENST00000367674.2:c.1291G>A	1.37:g.175362981C>T	ENSP00000356646:p.Val431Met					TNR_ENST00000263525.2_Missense_Mutation_p.V431M	p.V431M	NM_003285.2	NP_003276.3	Q92752	TENR_HUMAN			6	1999	-	Renal(580;0.146)		431			Fibronectin type-III 2.		C9J563|Q15568|Q5R3G0	Missense_Mutation	SNP	ENST00000367674.2	37	c.1291G>A	CCDS1318.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	27.5|27.5	4.835372|4.835372	0.91117|0.91117	.|.	.|.	ENSG00000116147|ENSG00000116147	ENST00000422274|ENST00000367674;ENST00000263525;ENST00000367673	.|T;T	.|0.59772	.|0.24;0.24	4.75|4.75	4.75|4.75	0.60458|0.60458	.|Fibronectin, type III (4);Immunoglobulin-like fold (1);	.|0.000000	.|0.64402	.|D	.|0.000001	T|T	0.77003|0.77003	0.4067|0.4067	M|M	0.84948|0.84948	2.725|2.725	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.74674	.|0.984	T|T	0.75648|0.75648	-0.3245|-0.3245	5|10	.|0.20046	.|T	.|0.44	.|.	17.7092|17.7092	0.88317|0.88317	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|431	.|Q92752	.|TENR_HUMAN	H|M	155|431	.|ENSP00000356646:V431M;ENSP00000263525:V431M	.|ENSP00000263525:V431M	R|V	-|-	2|1	0|0	TNR|TNR	173629604|173629604	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	7.338000|7.338000	0.79269|0.79269	2.343000|2.343000	0.79666|0.79666	0.643000|0.643000	0.83706|0.83706	CGT|GTG		0.488	TNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084414.4	NM_003285		43	60	0	0	0	1	0	43	60					T	175362981	C	T	175362981	3	4	189	1	0	0	0	0	1	0	0	0	16335	536	19	1	2857	1	TNR	1	175362981	Missense_Mutation	SNP	C	TCGA-G9-A9S0-01A-11D-A41K-08	71950469	175362981	73887640	3	8821											
SOX13	9580	broad.mit.edu	37	chr1	204092884	204092884	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aggatgagcggaggaagatcCtgcaagccttcccagacatg	12	6	13	10	1	0	3	0	1	0	2	2	6	2	6	3	3	3	1	3	3	2	1	rs61825749		TCGA-G9-A9S0-01A-11D-A41K-08	TCGA-G9-A9S0-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9650173-3de9-42ae-9cb3-0cc866860256	485bddad-e180-4a6e-ae2c-bf6336fa9bd2	g.chr1:204092884C>G	ENST00000367204.1	+	12	1436	c.1327C>G	c.(1327-1329)Ctg>Gtg	p.L443V		NM_005686.2	NP_005677.2	Q9UN79	SOX13_HUMAN	SRY (sex determining region Y)-box 13	443					anatomical structure morphogenesis (GO:0009653)|regulation of gamma-delta T cell differentiation (GO:0045586)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|ovary(2)|prostate(2)	13	all_cancers(21;0.0754)|Breast(84;0.116)|all_epithelial(62;0.189)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109)			GAGGAAGATCCTGCAAGCCTT	0.602											OREG0014126	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000367204.1																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|ovary(2)|prostate(2)	13						c.(1327-1329)Ctg>Gtg		SRY (sex determining region Y)-box 13							67	71	70					1																	204092884		2199	4300	6499	SO:0001583	missense	9580				anatomical structure morphogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr1:204092884C>G		CCDS44299.1	1q32	2008-07-18			ENSG00000143842	ENSG00000143842		"SRY (sex determining region Y)-boxes"	11192	protein-coding gene	gene with protein product	"islet cell antibody 12", "SRY-related HMG-box gene 13", "type 1 diabetes autoantigen", "SRY-box 13"	604748				10198172	Standard	NM_005686		Approved	Sox-13, ICA12, MGC117216	uc001ham.3	Q9UN79	OTTHUMG00000036050	ENST00000367204.1:c.1327C>G	1.37:g.204092884C>G	ENSP00000356172:p.Leu443Val		OREG0014126	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	2142		p.L443V	NM_005686.2	NP_005677.2	Q9UN79	SOX13_HUMAN	KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109)		12	1436	+	all_cancers(21;0.0754)|Breast(84;0.116)|all_epithelial(62;0.189)		443					B4E2B0|O95275|O95826|Q3KQV7|Q5SXX1|Q9UHW7	Missense_Mutation	SNP	ENST00000367204.1	37	c.1327C>G	CCDS44299.1	.	.	.	.	.	.	.	.	.	.	C	24.6	4.554282	0.86231	.	.	ENSG00000143842	ENST00000367204	D	0.97811	-4.55	5.53	5.53	0.82687	High mobility group, superfamily (1);High mobility group, HMG1/HMG2 (4);	0.000000	0.85682	D	0.000000	D	0.97723	0.9253	L	0.41356	1.27	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.87578	0.998;0.998;0.998	D	0.98158	1.0445	10	0.87932	D	0	.	13.7395	0.62838	0.0:0.9242:0.0:0.0757	.	310;310;443	B4DX26;B4E3N9;Q9UN79	.;.;SOX13_HUMAN	V	443	ENSP00000356172:L443V	ENSP00000356172:L443V	L	+	1	2	SOX13	202359507	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	2.574000	0.46016	2.599000	0.87857	0.655000	0.94253	CTG		0.602	SOX13-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087881.2	NM_005686		3	36	0	0	0	1	0	3	36					G	204092884	C	G	204092884	3	3	189	1	0	0	0	0	1	0	0	0	14944	680	24	5	1369	5	SOX13	1	204092884	Missense_Mutation	SNP	C	TCGA-G9-A9S0-01A-11D-A41K-08	28729903	204092884	45157737	4	8822											
SMC6	79677	broad.mit.edu	37	chr2	17851748	17851748	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	attctgcgatggaccacaggGaaagaataaaacacactgtg	16	7	10	8	1	1	1	0	0	1	1	1	4	1	3	1	2	2	0	1	2	4	2			TCGA-G9-A9S0-01A-11D-A41K-08	TCGA-G9-A9S0-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9650173-3de9-42ae-9cb3-0cc866860256	485bddad-e180-4a6e-ae2c-bf6336fa9bd2	g.chr2:17851748G>A	ENST00000448223.2	-	26	3274	c.3005C>T	c.(3004-3006)tCc>tTc	p.S1002F	SMC6_ENST00000351948.4_Missense_Mutation_p.S1002F|SMC6_ENST00000381272.4_Missense_Mutation_p.S1028F|SMC6_ENST00000402989.1_Missense_Mutation_p.S1002F	NM_001142286.1	NP_001135758.1	Q96SB8	SMC6_HUMAN	structural maintenance of chromosomes 6	1002	Ala/Asp-rich (DA-box).				cellular senescence (GO:0090398)|double-strand break repair via homologous recombination (GO:0000724)|telomere maintenance via recombination (GO:0000722)	chromosome, telomeric region (GO:0000781)|intracellular (GO:0005622)|nucleolus (GO:0005730)|nucleus (GO:0005634)|PML body (GO:0016605)|Smc5-Smc6 complex (GO:0030915)	ATP binding (GO:0005524)			NS(1)|biliary_tract(1)|breast(6)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	43	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					GGACCACAGGGAAAGAATAAA	0.383																																						ENST00000448223.2																			0				NS(1)|biliary_tract(1)|breast(6)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	43						c.(3004-3006)tCc>tTc		structural maintenance of chromosomes 6							87	83	85					2																	17851748		2203	4300	6503	SO:0001583	missense	79677				DNA recombination|DNA repair	chromosome|nucleus	ATP binding	g.chr2:17851748G>A	AJ310551	CCDS1690.1	2p24.3	2008-02-05	2006-07-06	2006-07-06	ENSG00000163029	ENSG00000163029		"Structural maintenance of chromosomes proteins"	20466	protein-coding gene	gene with protein product		609387	"SMC6 structural maintenance of chromosomes 6-like 1 (yeast)"	SMC6L1		11230166	Standard	NM_024624		Approved	FLJ22116	uc002rcn.3	Q96SB8	OTTHUMG00000090675	ENST00000448223.2:c.3005C>T	2.37:g.17851748G>A	ENSP00000404092:p.Ser1002Phe					SMC6_ENST00000351948.4_Missense_Mutation_p.S1002F|SMC6_ENST00000402989.1_Missense_Mutation_p.S1002F|SMC6_ENST00000381272.4_Missense_Mutation_p.S1028F	p.S1002F	NM_001142286.1	NP_001135758.1	Q96SB8	SMC6_HUMAN			26	3274	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)		1002			Ala/Asp-rich (DA-box).		A8K8Q6|D6W518|Q05BV4|Q9H0X3|Q9H6M0	Missense_Mutation	SNP	ENST00000448223.2	37	c.3005C>T	CCDS1690.1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.507933	0.85282	.	.	ENSG00000163029	ENST00000448223;ENST00000351948;ENST00000381272;ENST00000402989	T;T;T;T	0.69435	-0.4;-0.4;3.2;-0.4	5.88	5.88	0.94601	RecF/RecN/SMC (1);	0.000000	0.85682	D	0.000000	T	0.81875	0.4915	M	0.65498	2.005	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	T	0.82301	-0.0525	10	0.87932	D	0	.	20.2187	0.98312	0.0:0.0:1.0:0.0	.	1002	Q96SB8	SMC6_HUMAN	F	1002;1002;1028;1002	ENSP00000404092:S1002F;ENSP00000323439:S1002F;ENSP00000370672:S1028F;ENSP00000384539:S1002F	ENSP00000323439:S1002F	S	-	2	0	SMC6	17715229	1.000000	0.71417	1.000000	0.80357	0.739000	0.42172	9.476000	0.97823	2.780000	0.95670	0.655000	0.94253	TCC		0.383	SMC6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207359.1	NM_024624		10	36	0	0	0	1	0	10	36					A	17851748	G	A	17851748	3	1	189	1	0	0	0	0	1	0	0	0	14787	1174	41	3	282	3	SMC6	2	17851748	Missense_Mutation	SNP	G	TCGA-G9-A9S0-01A-11D-A41K-08		17851748	225347625	5	8823											
ZFP36L2	678	broad.mit.edu	37	chr2	43452646	43452647	+	Frame_Shift_Ins	INS	-	-	C																															ccgacggctccttaagggtgINSccgtaggaggtcggaccgcc																										TCGA-G9-A9S0-01A-11D-A41K-08	TCGA-G9-A9S0-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9650173-3de9-42ae-9cb3-0cc866860256	485bddad-e180-4a6e-ae2c-bf6336fa9bd2	g.chr2:43452646_43452647insC	ENST00000282388.3	-	2	589_590	c.296_297insG	c.(295-297)ggcfs	p.G99fs	THADA_ENST00000330266.7_Intron	NM_006887.4	NP_008818.3	P47974	TISD_HUMAN	ZFP36 ring finger protein-like 2	99					cell proliferation (GO:0008283)|definitive hemopoiesis (GO:0060216)|hemopoiesis (GO:0030097)|mRNA catabolic process (GO:0006402)|negative regulation of stem cell differentiation (GO:2000737)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|regulation of mRNA stability (GO:0043488)|regulation of transcription, DNA-templated (GO:0006355)|somatic stem cell division (GO:0048103)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	AU-rich element binding (GO:0017091)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|mRNA 3'-UTR AU-rich region binding (GO:0035925)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	15		Acute lymphoblastic leukemia(82;0.00323)|all_hematologic(82;0.00824)				CCTTAAGGGTGCCGTAGGAGGT	0.718																																						ENST00000282388.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	15						c.(295-297)gacfs		ZFP36 ring finger protein-like 2																																				SO:0001589	frameshift_variant	678				cell proliferation	nucleus	DNA binding|RNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr2:43452646_43452647insC	X78992	CCDS1811.1	2p22.3-p21	2012-11-27	2012-11-27	2001-11-23	ENSG00000152518	ENSG00000152518		"RING-type (C3HC4) zinc fingers"	1108	protein-coding gene	gene with protein product		612053	"zinc finger protein 36, C3H type-like 1", "zinc finger protein 36, C3H type-like 2"	BRF2		7835719, 8545129, 14981510, 17172869	Standard	NM_006887		Approved	ERF2, RNF162C, TIS11D	uc002rsv.4	P47974	OTTHUMG00000128642	ENST00000282388.3:c.297dupG	2.37:g.43452648_43452648dupC	ENSP00000282388:p.Gly99fs					THADA_ENST00000330266.7_Intron	p.D99fs	NM_006887.4	NP_008818.3	P47974	TISD_HUMAN			2	589_590	-		Acute lymphoblastic leukemia(82;0.00323)|all_hematologic(82;0.00824)	99					Q53TB4|Q9BSJ3	Frame_Shift_Ins	INS	ENST00000282388.3	37	c.296_297insG	CCDS1811.1																																																																																				0.718	ZFP36L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250513.2	NM_006887		5	10						5	10	---	---	---	---	C	43452647	-	C	43452646	7	5	189	1	0	1	1	0	0	0	0	0	17644	1306	46	0	1191	0	ZFP36L2	2	43452646	Frame_Shift_Ins	INS	-	TCGA-G9-A9S0-01A-11D-A41K-08	25600898	43452646	199746727	6	8824											
CACNA2D2	9254	broad.mit.edu	37	chr3	50421711	50421711	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gtttgggtcctcgatgaagtCcagccttagggtgctggcct	5	12	14	10	1	0	1	0	1	0	0	3	2	2	1	4	3	2	2	4	3	2	2			TCGA-G9-A9S0-01A-11D-A41K-08	TCGA-G9-A9S0-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9650173-3de9-42ae-9cb3-0cc866860256	485bddad-e180-4a6e-ae2c-bf6336fa9bd2	g.chr3:50421711C>A	ENST00000479441.1	-	6	567	c.568G>T	c.(568-570)Gac>Tac	p.D190Y	CACNA2D2_ENST00000395083.1_Missense_Mutation_p.D190Y|CACNA2D2_ENST00000423994.2_Missense_Mutation_p.D190Y|CACNA2D2_ENST00000424201.2_Missense_Mutation_p.D190Y|CACNA2D2_ENST00000435965.1_Missense_Mutation_p.D190Y|CACNA2D2_ENST00000266039.3_Missense_Mutation_p.D190Y|CACNA2D2_ENST00000360963.3_Missense_Mutation_p.D121Y|CACNA2D2_ENST00000429770.1_Missense_Mutation_p.D190Y			Q9NY47	CA2D2_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 2	190					energy reserve metabolic process (GO:0006112)|muscle fiber development (GO:0048747)|neuromuscular junction development (GO:0007528)|positive regulation of organ growth (GO:0046622)|regulation of insulin secretion (GO:0050796)|regulation of multicellular organism growth (GO:0040014)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			breast(3)|cervix(1)|endometrium(4)|large_intestine(4)|lung(8)|ovary(2)|prostate(4)|skin(4)|urinary_tract(1)	31				BRCA - Breast invasive adenocarcinoma(193;0.000365)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)	Amiodarone(DB01118)|Bepridil(DB01244)|Felodipine(DB01023)|Gabapentin(DB00996)|Isradipine(DB00270)|Nitrendipine(DB01054)|Spironolactone(DB00421)	TCGATGAAGTCCAGCCTTAGG	0.537																																						ENST00000435965.1																			0				breast(3)|cervix(1)|endometrium(4)|large_intestine(4)|lung(8)|ovary(2)|prostate(4)|skin(4)|urinary_tract(1)	31						c.(568-570)Gac>Tac		calcium channel, voltage-dependent, alpha 2/delta subunit 2	Gabapentin(DB00996)						334	309	317					3																	50421711		2203	4300	6503	SO:0001583	missense	9254				energy reserve metabolic process|regulation of insulin secretion	integral to membrane|plasma membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity	g.chr3:50421711C>A	AF040709	CCDS33763.1, CCDS54588.1, CCDS63647.1	3p21.3	2004-02-27			ENSG00000007402	ENSG00000007402		"Calcium channel subunits"	1400	protein-coding gene	gene with protein product	"gene 26"	607082					Standard	XM_005265581		Approved	KIAA0558	uc003daq.3	Q9NY47	OTTHUMG00000156887	ENST00000479441.1:c.568G>T	3.37:g.50421711C>A	ENSP00000418081:p.Asp190Tyr					CACNA2D2_ENST00000479441.1_Missense_Mutation_p.D190Y|CACNA2D2_ENST00000429770.1_Missense_Mutation_p.D190Y|CACNA2D2_ENST00000424201.2_Missense_Mutation_p.D190Y|CACNA2D2_ENST00000423994.2_Missense_Mutation_p.D190Y|CACNA2D2_ENST00000395083.1_Missense_Mutation_p.D190Y|CACNA2D2_ENST00000360963.3_Missense_Mutation_p.D121Y|CACNA2D2_ENST00000266039.3_Missense_Mutation_p.D190Y	p.D190Y			Q9NY47	CA2D2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000365)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)	6	741	-			190					A7MD15|Q9NY48|Q9UEW0|Q9Y268	Missense_Mutation	SNP	ENST00000479441.1	37	c.568G>T	CCDS54588.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.385652	0.82792	.	.	ENSG00000007402	ENST00000423994;ENST00000429770;ENST00000266039;ENST00000360963;ENST00000435965;ENST00000395083;ENST00000424201;ENST00000479441	T;T;T;T;T;T;T;T	0.06068	3.36;3.35;3.35;3.35;3.36;3.35;3.35;3.35	5.53	5.53	0.82687	VWA N-terminal (1);	0.055873	0.64402	D	0.000001	T	0.19248	0.0462	L	0.46157	1.445	0.58432	D	0.999996	D;D	0.58970	0.984;0.98	P;P	0.62491	0.903;0.891	T	0.00069	-1.2138	10	0.56958	D	0.05	-33.5243	19.4635	0.94929	0.0:1.0:0.0:0.0	.	190;190	Q9NY47;Q9NY47-2	CA2D2_HUMAN;.	Y	190;190;190;121;190;190;190;190	ENSP00000407393:D190Y;ENSP00000404631:D190Y;ENSP00000266039:D190Y;ENSP00000354228:D121Y;ENSP00000390526:D190Y;ENSP00000378519:D190Y;ENSP00000390329:D190Y;ENSP00000418081:D190Y	ENSP00000266039:D190Y	D	-	1	0	CACNA2D2	50396715	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.212000	0.77941	2.599000	0.87857	0.563000	0.77884	GAC		0.537	CACNA2D2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000346457.1	NM_006030		62	203	1	0	1.02016e-41	1	1.10069e-41	62	203					A	50421711	C	A	50421711	3	1	189	1	0	0	0	0	1	0	0	0	2549	855	30	5	3026	5	CACNA2D2	3	50421711	Missense_Mutation	SNP	C	TCGA-G9-A9S0-01A-11D-A41K-08		50421711	147600719	7	8825											
NFKBIZ	64332	broad.mit.edu	37	chr3	101572595	101572595	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caaacatgggaaatccaatgAacaccacacagttagggaaa	19	5	8	9	0	0	1	0	1	0	0	1	3	1	3	2	2	2	1	2	2	6	1			TCGA-G9-A9S0-01A-11D-A41K-08	TCGA-G9-A9S0-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9650173-3de9-42ae-9cb3-0cc866860256	485bddad-e180-4a6e-ae2c-bf6336fa9bd2	g.chr3:101572595A>C	ENST00000326172.5	+	5	1340	c.1225A>C	c.(1225-1227)Aac>Cac	p.N409H	NFKBIZ_ENST00000394054.2_Missense_Mutation_p.N309H|NFKBIZ_ENST00000326151.5_Missense_Mutation_p.N287H	NM_031419.3	NP_113607.1	Q9BYH8	IKBZ_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, zeta	409	Interaction with NFKB1/p50. {ECO:0000250}.				inflammatory response (GO:0006954)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24						AAATCCAATGAACACCACACA	0.483																																						ENST00000326172.5																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24						c.(1225-1227)Aac>Cac		nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, zeta							68	69	69					3																	101572595		2203	4300	6503	SO:0001583	missense	64332				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chr3:101572595A>C	AF548362	CCDS2946.1, CCDS43123.1	3p12-q12	2013-01-10			ENSG00000144802	ENSG00000144802		"Ankyrin repeat domain containing"	29805	protein-coding gene	gene with protein product	"IL-1 inducible nuclear ankyrin-repeat protein"	608004				12565889, 16513645	Standard	NM_031419		Approved	MAIL, FLJ34463, INAP	uc003dvp.3	Q9BYH8	OTTHUMG00000159194	ENST00000326172.5:c.1225A>C	3.37:g.101572595A>C	ENSP00000325663:p.Asn409His					NFKBIZ_ENST00000394054.2_Missense_Mutation_p.N309H|NFKBIZ_ENST00000326151.5_Missense_Mutation_p.N287H	p.N409H	NM_031419.3	NP_113607.1	Q9BYH8	IKBZ_HUMAN			5	1340	+			409			Interaction with NFKB1/p50 (By similarity).		B3KNR2|D3DN54|Q8IUL4|Q8NAZ8	Missense_Mutation	SNP	ENST00000326172.5	37	c.1225A>C	CCDS2946.1	.	.	.	.	.	.	.	.	.	.	A	13.73	2.324248	0.41197	.	.	ENSG00000144802	ENST00000483180;ENST00000394054;ENST00000326151;ENST00000326172	T;T;T;T	0.55413	0.56;0.52;0.62;0.59	5.65	5.65	0.86999	.	0.189205	0.46442	D	0.000292	T	0.54464	0.1860	L	0.27053	0.805	0.41639	D	0.989061	D;P	0.54964	0.969;0.916	P;P	0.54100	0.742;0.579	T	0.59878	-0.7371	10	0.72032	D	0.01	-5.3241	16.1634	0.81734	1.0:0.0:0.0:0.0	.	287;409	Q9BYH8-3;Q9BYH8	.;IKBZ_HUMAN	H	309;309;287;409	ENSP00000419800:N309H;ENSP00000377618:N309H;ENSP00000325593:N287H;ENSP00000325663:N409H	ENSP00000325593:N287H	N	+	1	0	NFKBIZ	103055285	0.989000	0.36119	0.982000	0.44146	0.130000	0.20726	2.997000	0.49457	2.276000	0.75962	0.460000	0.39030	AAC		0.483	NFKBIZ-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000353793.1	NM_031419		22	36	0	0	0	1	0	22	36					C	101572595	A	C	101572595	3	2	189	1	0	0	0	0	1	0	0	0	10383	246	9	5	1243	5	NFKBIZ	3	101572595	Missense_Mutation	SNP	A	TCGA-G9-A9S0-01A-11D-A41K-08	51150884	101572595	96449835	8	8826											
PTX3	5806	broad.mit.edu	37	chr3	157154853	157154853	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	actccatcccactgaggaccGtaagttcactttaactgttt	10	13	6	12	1	1	1	1	1	0	0	3	2	3	2	3	1	1	3	3	1	2	5			TCGA-G9-A9S0-01A-11D-A41K-08	TCGA-G9-A9S0-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9650173-3de9-42ae-9cb3-0cc866860256	485bddad-e180-4a6e-ae2c-bf6336fa9bd2	g.chr3:157154853G>A	ENST00000295927.3	+	1	275		c.e1+1		VEPH1_ENST00000392832.2_Intron|VEPH1_ENST00000392833.2_Intron|VEPH1_ENST00000543418.1_Intron|VEPH1_ENST00000362010.2_Intron	NM_002852.3	NP_002843.2	P26022	PTX3_HUMAN	pentraxin 3, long						inflammatory response (GO:0006954)|innate immune response (GO:0045087)|negative regulation of exo-alpha-sialidase activity (GO:1903016)|negative regulation of glycoprotein metabolic process (GO:1903019)|negative regulation of viral entry into host cell (GO:0046597)|opsonization (GO:0008228)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of phagocytosis (GO:0050766)|response to yeast (GO:0001878)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	(1->3)-beta-D-glucan binding (GO:0001872)|complement component C1q binding (GO:0001849)|virion binding (GO:0046790)			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(4)|stomach(1)	10			Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461)			ACTGAGGACCGTAAGTTCACT	0.423																																						ENST00000295927.3																			0				central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(4)|stomach(1)	10						c.e1+1		pentraxin 3, long							199	186	190					3																	157154853		2203	4300	6503	SO:0001630	splice_region_variant	5806				inflammatory response	extracellular region		g.chr3:157154853G>A	X63613	CCDS3180.1	3q25	2010-03-11	2010-03-11		ENSG00000163661	ENSG00000163661			9692	protein-coding gene	gene with protein product		602492	"pentaxin-related gene, rapidly induced by IL-1 beta", "tumor necrosis factor, alpha-induced protein 5", "pentraxin-related gene, rapidly induced by IL-1 beta"	TNFAIP5		1429570	Standard	NM_002852		Approved	TSG-14	uc003fbl.4	P26022	OTTHUMG00000158750	ENST00000295927.3:c.130+1G>A	3.37:g.157154853G>A						VEPH1_ENST00000392832.2_Intron|VEPH1_ENST00000543418.1_Intron|VEPH1_ENST00000392833.2_Intron|VEPH1_ENST00000362010.2_Intron		NM_002852.3	NP_002843.2	P26022	PTX3_HUMAN	Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461)		1	275	+								B2R6T6|Q38M82	Splice_Site	SNP	ENST00000295927.3	37		CCDS3180.1	.	.	.	.	.	.	.	.	.	.	G	18.74	3.688077	0.68271	.	.	ENSG00000163661	ENST00000295927	.	.	.	4.99	4.99	0.66335	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.4826	0.84162	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PTX3	158637547	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	5.929000	0.70096	2.322000	0.78497	0.455000	0.32223	.		0.423	PTX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352028.1	NM_002852	Intron	37	62	0	0	0	1	0	37	62					A	157154853	G	A	157154853	5	1	189	1	0	0	0	0	0	0	1	0	12822	1159	40	1	133	1	PTX3	3	157154853	Splice_Site	SNP	G	TCGA-G9-A9S0-01A-11D-A41K-08	55582258	157154853	40867577	9	8827											
DGKG	1608	broad.mit.edu	37	chr3	185997730	185997730	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gacacaaagccgtcccggtcGtagtccatcccttgcagcat	9	8	9	15	3	0	0	0	0	0	0	4	1	3	0	4	1	3	3	4	1	2	2	rs202148280		TCGA-G9-A9S0-01A-11D-A41K-08	TCGA-G9-A9S0-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9650173-3de9-42ae-9cb3-0cc866860256	485bddad-e180-4a6e-ae2c-bf6336fa9bd2	g.chr3:185997730G>A	ENST00000265022.3	-	9	1241	c.702C>T	c.(700-702)taC>taT	p.Y234Y	DGKG_ENST00000544847.1_Silent_p.Y234Y|DGKG_ENST00000382164.4_Silent_p.Y234Y|DGKG_ENST00000344484.4_Silent_p.Y234Y	NM_001080744.1|NM_001080745.1|NM_001346.2	NP_001074213.1|NP_001074214.1|NP_001337.2	P49619	DGKG_HUMAN	diacylglycerol kinase, gamma 90kDa	234	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.				blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|neuron development (GO:0048666)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|diacylglycerol kinase activity (GO:0004143)|NAD+ kinase activity (GO:0003951)			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	42	all_cancers(143;3.26e-12)|Ovarian(172;0.0315)|Breast(254;0.247)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)	GBM - Glioblastoma multiforme(93;0.0657)	Phosphatidylserine(DB00144)	CGTCCCGGTCGTAGTCCATCC	0.507																																						ENST00000265022.3																			0				breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	42						c.(700-702)taC>taT		diacylglycerol kinase, gamma 90kDa	Phosphatidylserine(DB00144)	G	,,	1,4405	2.1+/-5.4	0,1,2202	247	228	235		702,702,702	-3.3	0.9	3		235	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous	DGKG	NM_001080744.1,NM_001080745.1,NM_001346.2	,,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,,	234/767,234/753,234/792	185997730	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	1608				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	cytoplasm|plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity	g.chr3:185997730G>A	AF020945	CCDS3274.1, CCDS43181.1, CCDS43182.1	3q27-q28	2013-01-10	2002-08-29		ENSG00000058866	ENSG00000058866	2.7.1.107	"EF-hand domain containing"	2853	protein-coding gene	gene with protein product		601854	"diacylglycerol kinase, gamma (90kD)"	DAGK3		8034597	Standard	NM_001080744		Approved		uc003fqa.3	P49619	OTTHUMG00000156617	ENST00000265022.3:c.702C>T	3.37:g.185997730G>A						DGKG_ENST00000382164.4_Silent_p.Y234Y|DGKG_ENST00000344484.4_Silent_p.Y234Y|DGKG_ENST00000544847.1_Silent_p.Y234Y	p.Y234Y	NM_001080744.1|NM_001080745.1|NM_001346.2	NP_001074213.1|NP_001074214.1|NP_001337.2	P49619	DGKG_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)	GBM - Glioblastoma multiforme(93;0.0657)	9	1241	-	all_cancers(143;3.26e-12)|Ovarian(172;0.0315)|Breast(254;0.247)		234			EF-hand 2.		B2RAH4|Q2M1H4|Q5FWG1	Silent	SNP	ENST00000265022.3	37	c.702C>T	CCDS3274.1																																																																																				0.507	DGKG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344800.3			5	125	0	0	0	1	0	5	125					A	185997730	G	A	185997730	2	1	189	1	0	0	0	0	0	0	0	1	4469	1140	40	1		1	DGKG	3	185997730	Silent	SNP	G	TCGA-G9-A9S0-01A-11D-A41K-08	28842877	185997730	12024700	10	8828											
ELOVL6	79071	broad.mit.edu	37	chr4	111119469	111119469	+	Nonsense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tttcgaattcatattcttgtAaagtcaacactgacatgttc	12	16	5	8	1	3	1	2	1	1	0	5	2	3	1	0	0	1	2	0	0	5	7			TCGA-G9-A9S0-01A-11D-A41K-08	TCGA-G9-A9S0-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9650173-3de9-42ae-9cb3-0cc866860256	485bddad-e180-4a6e-ae2c-bf6336fa9bd2	g.chr4:111119469A>T	ENST00000394607.3	-	2	186	c.23T>A	c.(22-24)tTa>tAa	p.L8*	ELOVL6_ENST00000302274.3_Nonsense_Mutation_p.L8*|ELOVL6_ENST00000506461.1_5'UTR			Q9H5J4	ELOV6_HUMAN	ELOVL fatty acid elongase 6	8					cellular lipid metabolic process (GO:0044255)|fatty acid elongation, saturated fatty acid (GO:0019367)|long-chain fatty acid biosynthetic process (GO:0042759)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)	transferase activity, transferring acyl groups other than amino-acyl groups (GO:0016747)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)	8				OV - Ovarian serous cystadenocarcinoma(123;0.00462)		ATATTCTTGTAAAGTCAACAC	0.423																																						ENST00000394607.3																			0				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)	8						c.(22-24)tTa>tAa		ELOVL fatty acid elongase 6							209	182	191					4																	111119469		2203	4300	6503	SO:0001587	stop_gained	79071				fatty acid elongation, saturated fatty acid|long-chain fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process		fatty acid elongase activity|protein binding	g.chr4:111119469A>T	AK027031	CCDS3690.1	4q25	2011-05-25	2011-05-25		ENSG00000170522	ENSG00000170522			15829	protein-coding gene	gene with protein product		611546	"ELOVL family member 6, elongation of long chain fatty acids (FEN1/Elo2, SUR4/Elo3-like, yeast)"			11567032	Standard	NM_024090		Approved	FLJ23378, MGC5487, LCE	uc003hzz.3	Q9H5J4	OTTHUMG00000132547	ENST00000394607.3:c.23T>A	4.37:g.111119469A>T	ENSP00000378105:p.Leu8*					ELOVL6_ENST00000302274.3_Nonsense_Mutation_p.L8*|ELOVL6_ENST00000506461.1_5'UTR	p.L8*			Q9H5J4	ELOV6_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.00462)	2	186	-			8					Q4W5L0|Q8NCD1	Nonsense_Mutation	SNP	ENST00000394607.3	37	c.23T>A	CCDS3690.1	.	.	.	.	.	.	.	.	.	.	A	39	7.353829	0.98231	.	.	ENSG00000170522	ENST00000394607;ENST00000302274;ENST00000506625;ENST00000503885	.	.	.	5.25	5.25	0.73442	.	0.439409	0.21144	N	0.079427	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-5.9211	14.9968	0.71439	1.0:0.0:0.0:0.0	.	.	.	.	X	8	.	ENSP00000304736:L8X	L	-	2	0	ELOVL6	111338918	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.114000	0.89570	2.205000	0.71048	0.533000	0.62120	TTA		0.423	ELOVL6-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255748.1	NM_024090		33	87	0	0	0	1	0	33	87					T	111119469	A	T	111119469	4	4	189	1	0	0	0	0	0	1	0	0	5078	372	13	5	790	5	ELOVL6	4	111119469	Nonsense_Mutation	SNP	A	TCGA-G9-A9S0-01A-11D-A41K-08		111119469	80034807	11	8829											
ADAMTS16	170690	broad.mit.edu	37	chr5	5146494	5146494	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	tgcagactttaccgccagagGacttctgtttctatcaaggc	9	12	9	11	1	3	2	1	0	2	2	3	3	3	3	2	2	2	2	2	2	3	5			TCGA-G9-A9S0-01A-11D-A41K-08	TCGA-G9-A9S0-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9650173-3de9-42ae-9cb3-0cc866860256	485bddad-e180-4a6e-ae2c-bf6336fa9bd2	g.chr5:5146494G>C	ENST00000274181.7	+	3	565	c.427G>C	c.(427-429)Gac>Cac	p.D143H	CTD-2297D10.1_ENST00000514848.1_RNA|ADAMTS16_ENST00000511368.1_Missense_Mutation_p.D143H	NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	143					branching involved in ureteric bud morphogenesis (GO:0001658)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.D143N(2)		breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						ACCGCCAGAGGACTTCTGTTT	0.527																																						ENST00000274181.7																			2	Substitution - Missense(2)	p.D143N(2)	large_intestine(2)	breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						c.(427-429)Gac>Cac		ADAM metallopeptidase with thrombospondin type 1 motif, 16							119	115	117					5																	5146494		1909	4137	6046	SO:0001583	missense	170690				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:5146494G>C	AJ315734	CCDS43299.1	5p15	2008-07-18	2005-08-19		ENSG00000145536	ENSG00000145536		"ADAM metallopeptidases with thrombospondin type 1 motif"	17108	protein-coding gene	gene with protein product		607510	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 16"			11867212	Standard	NM_139056		Approved	ADAMTS16s	uc003jdl.3	Q8TE57	OTTHUMG00000161663	ENST00000274181.7:c.427G>C	5.37:g.5146494G>C	ENSP00000274181:p.Asp143His					ADAMTS16_ENST00000511368.1_Missense_Mutation_p.D143H|CTD-2297D10.1_ENST00000514848.1_RNA	p.D143H	NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN			3	565	+			143					C6G490|Q8IVE2	Missense_Mutation	SNP	ENST00000274181.7	37	c.427G>C	CCDS43299.1	.	.	.	.	.	.	.	.	.	.	G	9.546	1.114557	0.20795	.	.	ENSG00000145536	ENST00000274181;ENST00000511368;ENST00000536857	T;T	0.06608	3.28;3.28	5.74	4.85	0.62838	Peptidase M12B, propeptide (1);	0.120606	0.52532	D	0.000066	T	0.22205	0.0535	M	0.70842	2.15	0.49915	D	0.999836	D;B;B	0.65815	0.995;0.005;0.003	D;B;B	0.64321	0.924;0.049;0.038	T	0.00822	-1.1552	10	0.44086	T	0.13	.	15.7901	0.78350	0.0:0.1369:0.8631:0.0	.	143;143;143	Q8TE57;Q8TE57-2;Q2XQZ0	ATS16_HUMAN;.;.	H	143	ENSP00000274181:D143H;ENSP00000421631:D143H	ENSP00000274181:D143H	D	+	1	0	ADAMTS16	5199494	1.000000	0.71417	0.380000	0.26093	0.054000	0.15201	4.651000	0.61447	1.507000	0.48752	0.563000	0.77884	GAC		0.527	ADAMTS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365657.1	NM_139056		35	108	0	0	0	1	0	35	108					C	5146494	G	C	5146494	3	2	189	1	0	0	0	0	1	0	0	0	261	1174	41	5	437	5	ADAMTS16	5	5146494	Missense_Mutation	SNP	G	TCGA-G9-A9S0-01A-11D-A41K-08		5146494	175768766	12	8830											
ESM1	11082	broad.mit.edu	37	chr5	54281336	54281336	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagcgtggtcagcagcaagaCgctcttcatgtttcccagct	8	10	11	12	2	3	1	2	0	1	1	4	2	4	1	1	1	4	5	1	1	1	2			TCGA-G9-A9S0-01A-11D-A41K-08	TCGA-G9-A9S0-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9650173-3de9-42ae-9cb3-0cc866860256	485bddad-e180-4a6e-ae2c-bf6336fa9bd2	g.chr5:54281336C>T	ENST00000381405.4	-	1	155	c.10G>A	c.(10-12)Gtc>Atc	p.V4I	ESM1_ENST00000381403.4_Missense_Mutation_p.V4I|ESM1_ENST00000598310.1_Intron	NM_007036.4	NP_008967.1	Q9NQ30	ESM1_HUMAN	endothelial cell-specific molecule 1	4					angiogenesis (GO:0001525)|positive regulation of cell proliferation (GO:0008284)|positive regulation of hepatocyte growth factor receptor signaling pathway (GO:1902204)|regulation of cell growth (GO:0001558)|sprouting angiogenesis (GO:0002040)	extracellular region (GO:0005576)	hepatocyte growth factor receptor binding (GO:0005171)|integrin binding (GO:0005178)			breast(1)|kidney(1)|large_intestine(4)|lung(4)	10		Lung NSC(810;4.08e-05)|Breast(144;0.0433)|Prostate(74;0.116)	Lung(15;0.23)			AGCAGCAAGACGCTCTTCATG	0.597																																						ENST00000381405.4																			0				breast(1)|kidney(1)|large_intestine(4)|lung(4)	10						c.(10-12)Gtc>Atc		endothelial cell-specific molecule 1							34	33	33					5																	54281336		2203	4300	6503	SO:0001583	missense	11082				angiogenesis|regulation of cell growth	extracellular region	growth factor activity|insulin-like growth factor binding	g.chr5:54281336C>T	X89426	CCDS3963.1, CCDS47206.1	5q11	2008-02-05			ENSG00000164283	ENSG00000164283			3466	protein-coding gene	gene with protein product		601521				8702785	Standard	NM_001135604		Approved		uc003jpk.3	Q9NQ30	OTTHUMG00000097010	ENST00000381405.4:c.10G>A	5.37:g.54281336C>T	ENSP00000370812:p.Val4Ile					ESM1_ENST00000381403.4_Missense_Mutation_p.V4I|ESM1_ENST00000598310.1_Intron	p.V4I	NM_007036.4	NP_008967.1	Q9NQ30	ESM1_HUMAN	Lung(15;0.23)		1	155	-		Lung NSC(810;4.08e-05)|Breast(144;0.0433)|Prostate(74;0.116)	4					B2R4G3|Q15330|Q3V4E3|Q96ES3	Missense_Mutation	SNP	ENST00000381405.4	37	c.10G>A	CCDS3963.1	.	.	.	.	.	.	.	.	.	.	C	0.009	-1.820152	0.00595	.	.	ENSG00000164283	ENST00000381405;ENST00000381403	.	.	.	5.66	-1.23	0.09465	.	0.589370	0.17990	N	0.155250	T	0.12305	0.0299	N	0.08118	0	0.09310	N	1	B;B	0.27679	0.185;0.113	B;B	0.14023	0.01;0.01	T	0.21621	-1.0240	9	0.17832	T	0.49	-8.5076	4.0978	0.09998	0.2764:0.4793:0.1404:0.104	.	4;4	Q3V4E3;Q9NQ30	.;ESM1_HUMAN	I	4	.	ENSP00000370810:V4I	V	-	1	0	ESM1	54317093	0.078000	0.21339	0.853000	0.33588	0.061000	0.15899	-0.147000	0.10234	-0.598000	0.05806	-2.589000	0.00165	GTC		0.597	ESM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214099.2	NM_007036		7	21	0	0	0	1	0	7	21					T	54281336	C	T	54281336	3	4	189	1	0	0	0	0	1	0	0	0	5252	536	19	1	556	1	ESM1	5	54281336	Missense_Mutation	SNP	C	TCGA-G9-A9S0-01A-11D-A41K-08	49134842	54281336	126633924	13	8831											
IRF4	3662	broad.mit.edu	37	chr6	398917	398917	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agccaagcataaggtctgccGaagccttggcgttctcaggt	9	9	12	11	2	2	0	1	0	2	0	3	1	2	0	3	3	4	2	3	3	3	3			TCGA-G9-A9S0-01A-11D-A41K-08	TCGA-G9-A9S0-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9650173-3de9-42ae-9cb3-0cc866860256	485bddad-e180-4a6e-ae2c-bf6336fa9bd2	g.chr6:398917G>A	ENST00000380956.4	+	6	853	c.727G>A	c.(727-729)Gaa>Aaa	p.E243K		NM_001195286.1|NM_002460.3	NP_001182215.1|NP_002451.2	Q15306	IRF4_HUMAN	interferon regulatory factor 4	243					cytokine-mediated signaling pathway (GO:0019221)|defense response to protozoan (GO:0042832)|histone H3 acetylation (GO:0043966)|histone H4 acetylation (GO:0043967)|interferon-gamma-mediated signaling pathway (GO:0060333)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|positive regulation of DNA binding (GO:0043388)|positive regulation of interleukin-10 biosynthetic process (GO:0045082)|positive regulation of interleukin-13 biosynthetic process (GO:0045368)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of interleukin-4 biosynthetic process (GO:0045404)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of T-helper cell differentiation (GO:0045622)|T cell activation (GO:0042110)|T-helper 17 cell lineage commitment (GO:0072540)|transcription, DNA-templated (GO:0006351)|type I interferon signaling pathway (GO:0060337)	cytosol (GO:0005829)|membrane (GO:0016020)|nuclear nucleosome (GO:0000788)|nucleus (GO:0005634)	protein-lysine N-methyltransferase activity (GO:0016279)|regulatory region DNA binding (GO:0000975)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)	p.E243K(1)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)	5		Breast(5;0.0155)|all_lung(73;0.0691)|all_hematologic(90;0.0895)		OV - Ovarian serous cystadenocarcinoma(45;0.03)|BRCA - Breast invasive adenocarcinoma(62;0.0702)		AAGGTCTGCCGAAGCCTTGGC	0.592			T	IGH@	MM																																	ENST00000380956.4				Dom	yes		6	6p25-p23	3662	T	interferon regulatory factor 4			L	IGH@		MM		1	Substitution - Missense(1)	p.E243K(1)	endometrium(1)	haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)	5						c.(727-729)Gaa>Aaa		interferon regulatory factor 4							59	58	58					6																	398917		2203	4300	6503	SO:0001583	missense	3662				interferon-gamma-mediated signaling pathway|positive regulation of interleukin-10 biosynthetic process|positive regulation of interleukin-13 biosynthetic process|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-4 biosynthetic process|positive regulation of transcription, DNA-dependent|regulation of T-helper cell differentiation|T cell activation|type I interferon-mediated signaling pathway	cytoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding	g.chr6:398917G>A	U52682	CCDS4469.1	6p25-p23	2008-08-29			ENSG00000137265	ENSG00000137265			6119	protein-coding gene	gene with protein product		601900		MUM1		8921401, 18417578	Standard	NM_002460		Approved	LSIRF	uc003msz.4	Q15306	OTTHUMG00000016294	ENST00000380956.4:c.727G>A	6.37:g.398917G>A	ENSP00000370343:p.Glu243Lys						p.E243K	NM_001195286.1|NM_002460.3	NP_001182215.1|NP_002451.2	Q15306	IRF4_HUMAN		OV - Ovarian serous cystadenocarcinoma(45;0.03)|BRCA - Breast invasive adenocarcinoma(62;0.0702)	6	853	+		Breast(5;0.0155)|all_lung(73;0.0691)|all_hematologic(90;0.0895)	243					Q5VUI7|Q99660	Missense_Mutation	SNP	ENST00000380956.4	37	c.727G>A	CCDS4469.1	.	.	.	.	.	.	.	.	.	.	G	18.67	3.672905	0.67928	.	.	ENSG00000137265	ENST00000380956;ENST00000412334	D	0.97256	-4.31	5.3	5.3	0.74995	SMAD domain-like (1);	0.000000	0.85682	D	0.000000	D	0.92721	0.7686	L	0.50333	1.59	0.80722	D	1	B;B;P;B	0.34864	0.308;0.448;0.473;0.206	B;B;B;B	0.25614	0.047;0.058;0.062;0.048	D	0.92309	0.5856	10	0.29301	T	0.29	-21.3648	18.9759	0.92736	0.0:0.0:1.0:0.0	.	243;273;242;243	F2Z3D5;Q99419;Q15306-2;Q15306	.;.;.;IRF4_HUMAN	K	243;272	ENSP00000370343:E243K	ENSP00000370343:E243K	E	+	1	0	IRF4	343917	1.000000	0.71417	0.985000	0.45067	0.988000	0.76386	7.468000	0.80943	2.474000	0.83562	0.650000	0.86243	GAA		0.592	IRF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043638.1			6	25	0	0	0	1	0	6	25					A	398917	G	A	398917	3	1	189	1	0	0	0	0	1	0	0	0	7832	1059	37	2	745	2	IRF4	6	398917	Missense_Mutation	SNP	G	TCGA-G9-A9S0-01A-11D-A41K-08		398917	170716150	14	8832											
FGD2	221472	broad.mit.edu	37	chr6	36995755	36995755	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcacacctccatccccctgcTgggctaccaggtgactgttg	6	10	9	16	0	1	1	1	1	0	0	3	1	3	1	5	2	2	3	5	2	1	2			TCGA-G9-A9S0-01A-11D-A41K-08	TCGA-G9-A9S0-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9650173-3de9-42ae-9cb3-0cc866860256	485bddad-e180-4a6e-ae2c-bf6336fa9bd2	g.chr6:36995755T>G	ENST00000274963.8	+	16	1955	c.1784T>G	c.(1783-1785)cTg>cGg	p.L595R		NM_173558.3	NP_775829.2	Q7Z6J4	FGD2_HUMAN	FYVE, RhoGEF and PH domain containing 2	595	PH 2. {ECO:0000255|PROSITE- ProRule:PRU00145}.				actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|small GTPase binding (GO:0031267)			central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	25						ATCCCCCTGCTGGGCTACCAG	0.637																																						ENST00000274963.8																			0				central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	25						c.(1783-1785)cTg>cGg		FYVE, RhoGEF and PH domain containing 2							43	38	40					6																	36995755		2203	4300	6503	SO:0001583	missense	221472				actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|early endosome membrane|Golgi apparatus|lamellipodium|nucleus|ruffle membrane	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding	g.chr6:36995755T>G	AK097230	CCDS4829.1	6p21.2	2013-01-10	2004-08-24		ENSG00000146192	ENSG00000146192		"Zinc fingers, FYVE domain containing", "Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	3664	protein-coding gene	gene with protein product		605091	"FGD1 family, member 2"			10458911	Standard	NM_173558		Approved	ZFYVE4	uc010jwp.1	Q7Z6J4	OTTHUMG00000014616	ENST00000274963.8:c.1784T>G	6.37:g.36995755T>G	ENSP00000274963:p.Leu595Arg						p.L595R	NM_173558.3	NP_775829.2	Q7Z6J4	FGD2_HUMAN			16	1955	+			595			PH 2.		Q5T8I1|Q6P6A8|Q6ZNL5|Q8IZ32|Q8N868|Q9H7M2	Missense_Mutation	SNP	ENST00000274963.8	37	c.1784T>G	CCDS4829.1	.	.	.	.	.	.	.	.	.	.	T	20.7	4.032424	0.75504	.	.	ENSG00000146192	ENST00000274963;ENST00000394459	T	0.63744	-0.06	5.28	5.28	0.74379	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	0.000000	0.34133	N	0.004231	T	0.71978	0.3404	M	0.73372	2.23	0.48185	D	0.999602	D	0.89917	1.0	D	0.71184	0.972	T	0.76490	-0.2940	10	0.66056	D	0.02	-22.2275	14.8518	0.70303	0.0:0.0:0.0:1.0	.	595	Q7Z6J4	FGD2_HUMAN	R	595;223	ENSP00000274963:L595R	ENSP00000274963:L595R	L	+	2	0	FGD2	37103733	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	5.750000	0.68712	1.989000	0.58080	0.460000	0.39030	CTG		0.637	FGD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040398.2	NM_173558		11	33	0	0	0	1	0	11	33					G	36995755	T	G	36995755	3	3	189	1	0	0	0	0	1	0	0	0	5833	1580	55	5	1846	5	FGD2	6	36995755	Missense_Mutation	SNP	T	TCGA-G9-A9S0-01A-11D-A41K-08	36596838	36995755	134119312	15	8833											
TRRAP	8295	broad.mit.edu	37	chr7	98574218	98574218	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agccatgtcccagtgcgtgcCgccaatccccatccgaccct	7	7	8	19	3	0	0	0	0	0	0	3	1	3	0	8	0	3	0	8	0	1	0			TCGA-G9-A9S0-01A-11D-A41K-08	TCGA-G9-A9S0-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9650173-3de9-42ae-9cb3-0cc866860256	485bddad-e180-4a6e-ae2c-bf6336fa9bd2	g.chr7:98574218C>T	ENST00000359863.4	+	54	8260	c.8051C>T	c.(8050-8052)cCg>cTg	p.P2684L	TRRAP_ENST00000355540.3_Missense_Mutation_p.P2666L|TRRAP_ENST00000446306.3_Missense_Mutation_p.P2666L	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	2684					chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone deubiquitination (GO:0016578)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|mitotic cell cycle checkpoint (GO:0007093)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PCAF complex (GO:0000125)|STAGA complex (GO:0030914)|Swr1 complex (GO:0000812)|transcription factor TFTC complex (GO:0033276)	phosphotransferase activity, alcohol group as acceptor (GO:0016773)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			CAGTGCGTGCCGCCAATCCCC	0.592																																						ENST00000359863.4																			0				NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176						c.(8050-8052)cCg>cTg		transformation/transcription domain-associated protein							73	67	69					7																	98574218		2203	4300	6503	SO:0001583	missense	8295				histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity	g.chr7:98574218C>T	AF076974	CCDS5659.1, CCDS59066.1	7q21.2-q22.1	2010-06-22			ENSG00000196367	ENSG00000196367			12347	protein-coding gene	gene with protein product		603015				9708738, 9885574	Standard	NM_003496		Approved	TR-AP, PAF400, Tra1	uc003upp.3	Q9Y4A5	OTTHUMG00000150403	ENST00000359863.4:c.8051C>T	7.37:g.98574218C>T	ENSP00000352925:p.Pro2684Leu					TRRAP_ENST00000355540.3_Missense_Mutation_p.P2666L|TRRAP_ENST00000446306.3_Missense_Mutation_p.P2666L	p.P2684L	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)		54	8260	+	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		2684					A4D265|O75218|Q9Y631|Q9Y6H4	Missense_Mutation	SNP	ENST00000359863.4	37	c.8051C>T	CCDS59066.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	29.9|29.9	5.044632|5.044632	0.93685|0.93685	.|.	.|.	ENSG00000196367|ENSG00000196367	ENST00000359863;ENST00000355540;ENST00000446306|ENST00000456197	T;T|.	0.48522|.	0.81;0.81|.	5.92|5.92	5.92|5.92	0.95590|0.95590	Armadillo-like helical (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.83709|0.83709	0.5313|0.5313	M|M	0.84683|0.84683	2.71|2.71	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	1.0;1.0;1.0|.	D;D;D|.	0.97110|.	1.0;0.999;0.999|.	D|D	0.83892|0.83892	0.0285|0.0285	10|5	0.87932|.	D|.	0|.	.|.	20.3207|20.3207	0.98668|0.98668	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	2666;2405;2684|.	Q9Y4A5-2;Q59FH1;Q9Y4A5|.	.;.;TRRAP_HUMAN|.	L|C	2684;2666;2665|2406	ENSP00000352925:P2684L;ENSP00000347733:P2666L|.	ENSP00000347733:P2666L|.	P|R	+|+	2|1	0|0	TRRAP|TRRAP	98412154|98412154	1.000000|1.000000	0.71417|0.71417	0.847000|0.847000	0.33407|0.33407	0.626000|0.626000	0.37791|0.37791	7.568000|7.568000	0.82369|0.82369	2.813000|2.813000	0.96785|0.96785	0.561000|0.561000	0.74099|0.74099	CCG|CGC		0.592	TRRAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317978.1	NM_003496		11	39	0	0	0	1	0	11	39					T	98574218	C	T	98574218	3	4	189	1	0	0	0	0	1	0	0	0	16598	652	23	2	8203	2	TRRAP	7	98574218	Missense_Mutation	SNP	C	TCGA-G9-A9S0-01A-11D-A41K-08		98574218	60564445	16	8834											
WDR85	92715	broad.mit.edu	37	chr9	140459546	140459546	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgggcagttaccttttgctgGtgaagagaaatttgccgggt	8	13	14	6	1	0	2	0	1	0	1	0	3	0	2	2	3	3	3	2	3	3	4			TCGA-G9-A9S0-01A-11D-A41K-08	TCGA-G9-A9S0-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9650173-3de9-42ae-9cb3-0cc866860256	485bddad-e180-4a6e-ae2c-bf6336fa9bd2	g.chr9:140459546G>C	ENST00000277540.2	-	6	858	c.701C>G	c.(700-702)aCc>aGc	p.T234S	DPH7_ENST00000479650.1_5'UTR	NM_138778.2	NP_620133.1	Q9BTV6	DPH7_HUMAN	diphthamide biosynthesis 7	234					peptidyl-diphthamide biosynthetic process from peptidyl-histidine (GO:0017183)												CCTTTTGCTGGTGAAGAGAAA	0.612																																						ENST00000277540.2																			0											c.(700-702)aCc>aGc		diphthamide biosynthesis 7							92	94	93					9																	140459546		2203	4300	6503	SO:0001583	missense	92715							g.chr9:140459546G>C	AK075115	CCDS7047.1	9q34.3	2013-06-20	2013-06-20	2013-06-20	ENSG00000148399	ENSG00000148399		"WD repeat domain containing"	25199	protein-coding gene	gene with protein product		613210	"chromosome 9 open reading frame 112", "WD repeat domain 85"	C9orf112, WDR85		23486472	Standard	NM_138778		Approved	FLJ90634, RRT2	uc004cnk.1	Q9BTV6	OTTHUMG00000020991	ENST00000277540.2:c.701C>G	9.37:g.140459546G>C	ENSP00000277540:p.Thr234Ser					DPH7_ENST00000479650.1_5'UTR	p.T234S	NM_138778.2	NP_620133.1					6	858	-								Q96AB7	Missense_Mutation	SNP	ENST00000277540.2	37	c.701C>G	CCDS7047.1	.	.	.	.	.	.	.	.	.	.	g	13.64	2.298557	0.40694	.	.	ENSG00000148399	ENST00000277540	T	0.61627	0.09	5.41	2.46	0.29980	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.47210	0.1433	L	0.28344	0.845	0.30877	N	0.731794	P	0.42827	0.791	P	0.47941	0.562	T	0.47824	-0.9087	10	0.19590	T	0.45	.	9.5671	0.39405	0.0745:0.4108:0.5147:0.0	.	234	Q9BTV6	WDR85_HUMAN	S	234	ENSP00000277540:T234S	ENSP00000277540:T234S	T	-	2	0	WDR85	139579367	1.000000	0.71417	0.776000	0.31678	0.036000	0.12997	3.604000	0.54081	0.229000	0.21039	0.486000	0.48141	ACC		0.612	DPH7-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055350.1	NM_138778		9	19	0	0	0	1	0	9	19					C	140459546	G	C	140459546	3	2	189	1	0	0	0	0	1	0	0	0	17330	1261	44	5	673	5	WDR85	9	140459546	Missense_Mutation	SNP	G	TCGA-G9-A9S0-01A-11D-A41K-08		140459546	753885	17	8835											
ANK3	288	broad.mit.edu	37	chr10	61835916	61835916	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tatcggcgaagacattgtccGaaaggatctaattggagatg	13	10	12	6	3	1	2	0	0	1	2	3	6	2	3	1	3	0	0	1	3	4	4	rs565896400		TCGA-G9-A9S0-01A-11D-A41K-08	TCGA-G9-A9S0-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9650173-3de9-42ae-9cb3-0cc866860256	485bddad-e180-4a6e-ae2c-bf6336fa9bd2	g.chr10:61835916G>A	ENST00000280772.2	-	37	4914	c.4723C>T	c.(4723-4725)Cgg>Tgg	p.R1575W	ANK3_ENST00000355288.2_Intron|ANK3_ENST00000373827.2_Intron|ANK3_ENST00000503366.1_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	1575	Ser-rich.				axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization (GO:0045184)|Golgi to plasma membrane protein transport (GO:0043001)|maintenance of protein location in plasma membrane (GO:0072660)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|neuromuscular junction development (GO:0007528)|neuronal action potential (GO:0019228)|plasma membrane organization (GO:0007009)|positive regulation of cell communication by electrical coupling (GO:0010650)|positive regulation of gene expression (GO:0010628)|positive regulation of homotypic cell-cell adhesion (GO:0034112)|positive regulation of membrane depolarization during cardiac muscle cell action potential (GO:1900827)|positive regulation of membrane potential (GO:0045838)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein localization to plasma membrane (GO:0072659)|protein targeting to plasma membrane (GO:0072661)|regulation of potassium ion transport (GO:0043266)|signal transduction (GO:0007165)	axon initial segment (GO:0043194)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|costamere (GO:0043034)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|lysosome (GO:0005764)|neuromuscular junction (GO:0031594)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|T-tubule (GO:0030315)|Z disc (GO:0030018)	cadherin binding (GO:0045296)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						GACATTGTCCGAAAGGATCTA	0.458													G|||	1	0.000199681	0	0	5008	,	,		21007	0		0	False		,,,				2504	0.001					ENST00000280772.1																			0				NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						c.(4723-4725)Cgg>Tgg		ankyrin 3, node of Ranvier (ankyrin G)							199	179	186					10																	61835916		2203	4300	6503	SO:0001583	missense	288				establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding	g.chr10:61835916G>A	U13616	CCDS7258.1, CCDS7259.1, CCDS55711.1, CCDS55712.1	10q21	2013-01-10			ENSG00000151150	ENSG00000151150		"Ankyrin repeat domain containing"	494	protein-coding gene	gene with protein product	"ankyrin-3, node of Ranvier", "ankyrin-G"	600465				7665168	Standard	NM_020987		Approved		uc001jky.3	Q12955	OTTHUMG00000018288	ENST00000280772.2:c.4723C>T	10.37:g.61835916G>A	ENSP00000280772:p.Arg1575Trp					ANK3_ENST00000503366.1_Intron|ANK3_ENST00000355288.2_Intron|ANK3_ENST00000373827.2_Intron	p.R1575W	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN			37	4914	-			1575			Ser-rich.		B1AQT2|B4DIL1|E9PE32|Q13484|Q5CZH9|Q5VXD5|Q7Z3G4|Q9H0P5	Missense_Mutation	SNP	ENST00000280772.2	37	c.4723C>T	CCDS7258.1	.	.	.	.	.	.	.	.	.	.	G	16.77	3.216264	0.58452	.	.	ENSG00000151150	ENST00000280772	T	0.74526	-0.85	5.78	5.78	0.91487	.	0.000000	0.38492	N	0.001674	D	0.85427	0.5694	M	0.61703	1.905	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.84272	0.0489	10	0.48119	T	0.1	.	20.0006	0.97406	0.0:0.0:1.0:0.0	.	1575	Q12955	ANK3_HUMAN	W	1575	ENSP00000280772:R1575W	ENSP00000280772:R1575W	R	-	1	2	ANK3	61505922	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	6.712000	0.74681	2.734000	0.93682	0.591000	0.81541	CGG		0.458	ANK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048201.4	NM_020987		4	185	0	0	0	1	0	4	185					A	61835916	G	A	61835916	3	1	189	1	0	0	0	0	1	0	0	0	622	1057	37	2	8751	2	ANK3	10	61835916	Missense_Mutation	SNP	G	TCGA-G9-A9S0-01A-11D-A41K-08		61835916	73698831	18	8836											
CDHR1	92211	broad.mit.edu	37	chr10	85965592	85965592	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tcccttgacagggaacgatgGagcctttgaaattaatgaga	13	10	11	7	1	0	3	0	3	0	1	1	7	1	5	2	2	2	0	2	2	3	3			TCGA-G9-A9S0-01A-11D-A41K-08	TCGA-G9-A9S0-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9650173-3de9-42ae-9cb3-0cc866860256	485bddad-e180-4a6e-ae2c-bf6336fa9bd2	g.chr10:85965592G>A	ENST00000372117.3	+	10	975	c.872G>A	c.(871-873)gGa>gAa	p.G291E	CDHR1_ENST00000440770.2_Missense_Mutation_p.G50E|CDHR1_ENST00000332904.3_Missense_Mutation_p.G291E	NM_033100.2	NP_149091.1	Q96JP9	CDHR1_HUMAN	cadherin-related family member 1	291	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cellular process (GO:0009987)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)	integral component of plasma membrane (GO:0005887)|photoreceptor outer segment membrane (GO:0042622)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(21)|ovary(1)|prostate(1)|skin(1)	36						GGGAACGATGGAGCCTTTGAA	0.572											OREG0020333	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000372117.3																			0				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(21)|ovary(1)|prostate(1)|skin(1)	36						c.(871-873)gGa>gAa		cadherin-related family member 1							76	72	73					10																	85965592		2203	4300	6503	SO:0001583	missense	92211				homophilic cell adhesion		calcium ion binding|receptor activity	g.chr10:85965592G>A	AB053448	CCDS7372.1, CCDS53548.1	10q23.1	2014-01-28	2010-01-25	2010-01-25	ENSG00000148600	ENSG00000148600		"Cadherins / Cadherin-related"	14550	protein-coding gene	gene with protein product		609502	"protocadherin 21"	PCDH21		11597768	Standard	NM_001171971		Approved	KIAA1775, CORD15, RP65	uc001kcv.3	Q96JP9	OTTHUMG00000018634	ENST00000372117.3:c.872G>A	10.37:g.85965592G>A	ENSP00000361189:p.Gly291Glu		OREG0020333	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1240	CDHR1_ENST00000440770.2_Missense_Mutation_p.G50E|CDHR1_ENST00000332904.3_Missense_Mutation_p.G291E	p.G291E	NM_033100.2	NP_149091.1	Q96JP9	CDHR1_HUMAN			10	975	+			291			Cadherin 3.		Q69YZ8|Q8IXY5	Missense_Mutation	SNP	ENST00000372117.3	37	c.872G>A	CCDS7372.1	.	.	.	.	.	.	.	.	.	.	G	13.29	2.193168	0.38707	.	.	ENSG00000148600	ENST00000332904;ENST00000372117;ENST00000440770	T;T;T	0.53423	0.62;0.62;0.62	5.38	1.44	0.22558	Cadherin (4);Cadherin-like (1);	0.266100	0.43260	N	0.000593	T	0.45677	0.1354	L	0.56124	1.755	0.42141	D	0.991516	B;B;P	0.35844	0.01;0.241;0.524	B;B;P	0.44518	0.019;0.178;0.452	T	0.24404	-1.0161	10	0.25751	T	0.34	-19.9168	9.1123	0.36734	0.3205:0.0:0.6795:0.0	.	50;291;291	E7EN47;Q96JP9-2;Q96JP9	.;.;CDHR1_HUMAN	E	291;291;50	ENSP00000331063:G291E;ENSP00000361189:G291E;ENSP00000415980:G50E	ENSP00000331063:G291E	G	+	2	0	CDHR1	85955572	0.999000	0.42202	0.223000	0.23860	0.725000	0.41563	1.564000	0.36375	0.363000	0.24346	0.491000	0.48974	GGA		0.572	CDHR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049111.1	NM_033100		5	22	0	0	0	1	0	5	22					A	85965592	G	A	85965592	3	1	189	1	0	0	0	0	1	0	0	0	3118	1174	41	3	910	3	CDHR1	10	85965592	Missense_Mutation	SNP	G	TCGA-G9-A9S0-01A-11D-A41K-08	24129676	85965592	49569155	19	8837											
C14orf37	145407	broad.mit.edu	37	chr14	58604793	58604793	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tctaagaaaaacagggcatcGttttccttggtggattccgt	10	13	10	8	2	1	1	0	0	1	1	4	2	3	2	2	3	1	2	2	3	3	5	rs183669375		TCGA-G9-A9S0-01A-11D-A41K-08	TCGA-G9-A9S0-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9650173-3de9-42ae-9cb3-0cc866860256	485bddad-e180-4a6e-ae2c-bf6336fa9bd2	g.chr14:58604793G>C	ENST00000267485.7	-	2	1478	c.1284C>G	c.(1282-1284)aaC>aaG	p.N428K	C14orf37_ENST00000334342.5_5'UTR	NM_001001872.2	NP_001001872.2	Q86TY3	CN037_HUMAN	chromosome 14 open reading frame 37	428						integral component of membrane (GO:0016021)				breast(7)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|skin(1)	33						ACAGGGCATCGTTTTCCTTGG	0.413																																						ENST00000267485.7																			0				breast(7)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|skin(1)	33						c.(1282-1284)aaC>aaG		chromosome 14 open reading frame 37							87	87	87					14																	58604793		2203	4300	6503	SO:0001583	missense	145407					integral to membrane	binding	g.chr14:58604793G>C		CCDS32089.1	14q23.1	2012-09-03			ENSG00000139971	ENSG00000139971			19846	protein-coding gene	gene with protein product							Standard	NM_001001872		Approved		uc001xdc.3	Q86TY3	OTTHUMG00000171173	ENST00000267485.7:c.1284C>G	14.37:g.58604793G>C	ENSP00000267485:p.Asn428Lys					C14orf37_ENST00000334342.5_5'UTR	p.N428K	NM_001001872.2	NP_001001872.2	Q86TY3	CN037_HUMAN			2	1478	-			428					A8K8Z8|Q6P5Q1|Q86TY1	Missense_Mutation	SNP	ENST00000267485.7	37	c.1284C>G	CCDS32089.1	.	.	.	.	.	.	.	.	.	.	G	9.829	1.187802	0.21954	.	.	ENSG00000139971	ENST00000267485;ENST00000438670	T	0.16743	2.32	5.86	-7.6	0.01303	.	1.146940	0.06262	N	0.694007	T	0.12475	0.0303	L	0.51422	1.61	0.09310	N	1	B;B;B;B	0.17038	0.003;0.02;0.003;0.003	B;B;B;B	0.17979	0.004;0.02;0.004;0.004	T	0.34625	-0.9821	10	0.42905	T	0.14	-0.1022	4.1989	0.10457	0.3879:0.346:0.1872:0.0789	.	466;428;428;428	B4DMS4;Q86TY3-2;A8K990;Q86TY3	.;.;.;CN037_HUMAN	K	428;466	ENSP00000267485:N428K	ENSP00000267485:N428K	N	-	3	2	C14orf37	57674546	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.450000	0.02390	-1.530000	0.01751	-0.868000	0.02995	AAC		0.413	C14orf37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412059.1	NM_001001872		12	81	0	0	0	1	0	12	81					C	58604793	G	C	58604793	3	2	189	1	0	0	0	0	1	0	0	0	1771	1136	40	5	1068	5	C14orf37	14	58604793	Missense_Mutation	SNP	G	TCGA-G9-A9S0-01A-11D-A41K-08		58604793	48744747	20	8838											
ACTN1	87	broad.mit.edu	37	chr14	69343829	69343833	+	Frame_Shift_Del	DEL	CATGA	CATGA	-																															gccaggatcttgaaggaagcCatgacttggtctgctgtatc																										TCGA-G9-A9S0-01A-11D-A41K-08	TCGA-G9-A9S0-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9650173-3de9-42ae-9cb3-0cc866860256	485bddad-e180-4a6e-ae2c-bf6336fa9bd2	g.chr14:69343829_69343833delCATGA	ENST00000193403.6	-	20	2869_2873	c.2486_2490delTCATG	c.(2485-2490)gtcatgfs	p.VM829fs	ACTN1_ENST00000394419.4_Frame_Shift_Del_p.VM851fs|ACTN1_ENST00000538545.2_Frame_Shift_Del_p.VM824fs|ACTN1_ENST00000376839.3_Frame_Shift_Del_p.VM759fs|ACTN1_ENST00000438964.2_Frame_Shift_Del_p.VM824fs	NM_001102.3	NP_001093.1	P12814	ACTN1_HUMAN	actinin, alpha 1	829					actin crosslink formation (GO:0051764)|actin filament bundle assembly (GO:0051017)|blood coagulation (GO:0007596)|cell junction assembly (GO:0034329)|extracellular matrix organization (GO:0030198)|focal adhesion assembly (GO:0048041)|negative regulation of cellular component movement (GO:0051271)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of apoptotic process (GO:0042981)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)|pseudopodium (GO:0031143)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|double-stranded RNA binding (GO:0003725)|integrin binding (GO:0005178)|ion channel binding (GO:0044325)|vinculin binding (GO:0017166)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(9)|prostate(2)|urinary_tract(1)	27				BRCA - Breast invasive adenocarcinoma(234;0.00605)|all cancers(60;0.00846)|OV - Ovarian serous cystadenocarcinoma(108;0.0654)		TGAAGGAAGCCATGACTTGGTCTGC	0.576																																						ENST00000193403.6																			0				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(9)|prostate(2)|urinary_tract(1)	27						c.(2485-2490)gfs		actinin, alpha 1																																				SO:0001589	frameshift_variant	87				focal adhesion assembly|negative regulation of cellular component movement|platelet activation|platelet degranulation|regulation of apoptosis	actin cytoskeleton|cytosol|extracellular region|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|sarcomere	actin binding|calcium ion binding|integrin binding|vinculin binding	g.chr14:69343829_69343833delCATGA	M95178	CCDS9792.1, CCDS45129.1, CCDS45130.1	14q24.1	2014-08-08			ENSG00000072110	ENSG00000072110		"EF-hand domain containing"	163	protein-coding gene	gene with protein product		102575				2349951	Standard	NM_001102		Approved		uc001xkm.3	P12814	OTTHUMG00000171386	ENST00000193403.6:c.2486_2490delTCATG	14.37:g.69343829_69343833delCATGA	ENSP00000193403:p.Val829fs					ACTN1_ENST00000438964.2_Frame_Shift_Del_p.VM824fs|ACTN1_ENST00000376839.3_Frame_Shift_Del_p.VM759fs|ACTN1_ENST00000538545.2_Frame_Shift_Del_p.VM824fs|ACTN1_ENST00000394419.4_Frame_Shift_Del_p.VM851fs	p.VM829fs	NM_001102.3	NP_001093.1	P12814	ACTN1_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00605)|all cancers(60;0.00846)|OV - Ovarian serous cystadenocarcinoma(108;0.0654)	20	2869_2873	-			829					B3V8S3|B4DHH3|B7TY16|Q1HE25|Q9BTN1	Frame_Shift_Del	DEL	ENST00000193403.6	37	c.2486_2490delTCATG	CCDS9792.1																																																																																				0.576	ACTN1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000413233.3	NM_001102		13	19						13	19	---	---	---	---	-	69343833	CATGA	-	69343829	7	5	189	1	0	1	0	1	0	0	0	0	204	594	21	0	196	0	ACTN1	14	69343829	Frame_Shift_Del	DEL	CATGA	TCGA-G9-A9S0-01A-11D-A41K-08	10739036	69343829	38005711	21	8839											
PDILT	204474	broad.mit.edu	37	chr16	20386194	20386194	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacgtggaaacgcccaatgaCattgccaatcgttatgactc	12	9	9	11	3	0	2	0	2	0	0	2	4	0	3	2	1	2	1	2	1	4	2			TCGA-G9-A9S0-01A-11D-A41K-08	TCGA-G9-A9S0-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9650173-3de9-42ae-9cb3-0cc866860256	485bddad-e180-4a6e-ae2c-bf6336fa9bd2	g.chr16:20386194C>T	ENST00000302451.4	-	5	879	c.631G>A	c.(631-633)Gtc>Atc	p.V211I		NM_174924.1	NP_777584.1	Q8N807	PDILT_HUMAN	protein disulfide isomerase-like, testis expressed	211					cell migration (GO:0016477)|cell redox homeostasis (GO:0045454)|multicellular organismal development (GO:0007275)|protein folding (GO:0006457)|spermatid development (GO:0007286)	endoplasmic reticulum (GO:0005783)	protein disulfide isomerase activity (GO:0003756)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(33)|prostate(3)|skin(1)|urinary_tract(1)	61						CGCCCAATGACATTGCCAATC	0.433																																						ENST00000302451.4																			0				breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(33)|prostate(3)|skin(1)|urinary_tract(1)	61						c.(631-633)Gtc>Atc		protein disulfide isomerase-like, testis expressed							191	163	172					16																	20386194		2203	4300	6503	SO:0001583	missense	204474				cell differentiation|cell redox homeostasis|multicellular organismal development|spermatogenesis	endoplasmic reticulum	isomerase activity	g.chr16:20386194C>T		CCDS10584.1	16p12.3	2011-11-10	2009-02-23		ENSG00000169340	ENSG00000169340		"Protein disulfide isomerases"	27338	protein-coding gene	gene with protein product	"protein disulfide isomerase family A, member 7", "protein disulfide isomerase-like protein of the testis"					15475357	Standard	NM_174924		Approved	PDIA7	uc002dhc.1	Q8N807	OTTHUMG00000131487	ENST00000302451.4:c.631G>A	16.37:g.20386194C>T	ENSP00000305465:p.Val211Ile						p.V211I	NM_174924.1	NP_777584.1	Q8N807	PDILT_HUMAN			5	879	-			211					Q8IVQ5	Missense_Mutation	SNP	ENST00000302451.4	37	c.631G>A	CCDS10584.1	.	.	.	.	.	.	.	.	.	.	C	7.674	0.687622	0.14973	.	.	ENSG00000169340	ENST00000302451	T	0.34859	1.34	4.15	-2.74	0.05932	Thioredoxin-like fold (2);	0.697598	0.14714	N	0.302773	T	0.13756	0.0333	N	0.08118	0	0.09310	N	1	B	0.17667	0.023	B	0.20955	0.032	T	0.25916	-1.0118	10	0.18276	T	0.48	.	5.3174	0.15862	0.1512:0.3152:0.0:0.5336	.	211	Q8N807	PDILT_HUMAN	I	211	ENSP00000305465:V211I	ENSP00000305465:V211I	V	-	1	0	PDILT	20293695	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.154000	0.03166	-0.474000	0.06862	-0.793000	0.03317	GTC		0.433	PDILT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254332.1	NM_174924		33	52	0	0	0	1	0	33	52					T	20386194	C	T	20386194	3	4	189	1	0	0	0	0	1	0	0	0	11674	478	17	3	1155	3	PDILT	16	20386194	Missense_Mutation	SNP	C	TCGA-G9-A9S0-01A-11D-A41K-08		20386194	69968559	22	8840											
TP53	7157	broad.mit.edu	37	chr17	7577141	7577141	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gcacctcaaagctgttccgtCccagtagattaccactactc	10	10	6	15	1	1	1	1	0	0	1	4	1	3	1	4	0	3	4	4	0	4	4	rs193920774		TCGA-G9-A9S0-01A-11D-A41K-08	TCGA-G9-A9S0-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9650173-3de9-42ae-9cb3-0cc866860256	485bddad-e180-4a6e-ae2c-bf6336fa9bd2	g.chr17:7577141C>A	ENST00000269305.4	-	8	986	c.797G>T	c.(796-798)gGa>gTa	p.G266V	TP53_ENST00000413465.2_Intron|TP53_ENST00000420246.2_Missense_Mutation_p.G266V|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000359597.4_Missense_Mutation_p.G266V|TP53_ENST00000445888.2_Missense_Mutation_p.G266V|TP53_ENST00000455263.2_Missense_Mutation_p.G266V	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	266	Interaction with AXIN1. {ECO:0000250}.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		G -> A (in sporadic cancers; somatic mutation).|G -> E (in sporadic cancers; somatic mutation).|G -> R (in sporadic cancers; somatic mutation).|G -> V (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.G266E(50)|p.G266V(42)|p.0?(8)|p.?(3)|p.G266fs*79(3)|p.G262_F270delGNLLGRNSF(2)|p.G266A(2)|p.G266_E271delGRNSFE(2)|p.G262_S269delGNLLGRNS(2)|p.G266fs*4(1)|p.G266T(1)|p.L265_K305del41(1)|p.E258fs*71(1)|p.L265_R267delLGR(1)|p.G266_N268delGRN(1)|p.G262fs*2(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GCTGTTCCGTCCCAGTAGATT	0.517		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"Mis, N, F"	tumor protein p53			"L, E, M, O"		"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"	"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"		121	Substitution - Missense(95)|Deletion - In frame(9)|Whole gene deletion(8)|Deletion - Frameshift(6)|Unknown(3)	p.G266E(50)|p.G266V(42)|p.0?(8)|p.?(3)|p.G266fs*79(3)|p.G262_F270delGNLLGRNSF(2)|p.G266A(2)|p.G266_E271delGRNSFE(2)|p.G262_S269delGNLLGRNS(2)|p.G266fs*4(1)|p.G266T(1)|p.L265_K305del41(1)|p.E258fs*71(1)|p.L265_R267delLGR(1)|p.G266_N268delGRN(1)|p.G262fs*2(1)	lung(23)|oesophagus(10)|haematopoietic_and_lymphoid_tissue(10)|large_intestine(9)|breast(9)|upper_aerodigestive_tract(8)|ovary(8)|urinary_tract(7)|pancreas(6)|skin(5)|central_nervous_system(4)|stomach(4)|bone(4)|liver(4)|endometrium(3)|vulva(1)|kidney(1)|thyroid(1)|cervix(1)|eye(1)|genital_tract(1)|biliary_tract(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185						c.(796-798)gGa>gTa	Other conserved DNA damage response genes	tumor protein p53							50	44	46					17																	7577141		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577141C>A	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"Li-Fraumeni syndrome"	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.797G>T	17.37:g.7577141C>A	ENSP00000269305:p.Gly266Val	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_ENST00000445888.2_Missense_Mutation_p.G266V|TP53_ENST00000413465.2_Intron|TP53_ENST00000359597.4_Missense_Mutation_p.G266V|TP53_ENST00000269305.4_Missense_Mutation_p.G266V|TP53_ENST00000455263.2_Missense_Mutation_p.G266V	p.G266V	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	8	929	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	266		G -> A (in sporadic cancers; somatic mutation).|G -> E (in sporadic cancers; somatic mutation).|G -> R (in sporadic cancers; somatic mutation).|G -> V (in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.797G>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.388215	0.82902	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99900	-7.62;-7.62;-7.62;-7.62;-7.62;-7.62	5.13	5.13	0.70059	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99906	0.9955	M	0.92367	3.3	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;1.0;0.999;0.999	D	0.96190	0.9137	10	0.87932	D	0	-13.0798	16.1198	0.81342	0.0:1.0:0.0:0.0	.	266;266;266;266	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	V	266;266;266;266;266;255;134	ENSP00000352610:G266V;ENSP00000269305:G266V;ENSP00000398846:G266V;ENSP00000391127:G266V;ENSP00000391478:G266V;ENSP00000425104:G134V	ENSP00000269305:G266V	G	-	2	0	TP53	7517866	1.000000	0.71417	0.996000	0.52242	0.744000	0.42396	7.587000	0.82613	2.667000	0.90743	0.462000	0.41574	GGA		0.517	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		3	8	1	0	0.115264	1	0.115264	3	8					A	7577141	C	A	7577141	3	1	189	1	0	0	0	0	1	0	0	0	16378	855	30	5	489	5	TP53	17	7577141	Missense_Mutation	SNP	C	TCGA-G9-A9S0-01A-11D-A41K-08		7577141	73618069	23	8841											
SLC47A2	146802	broad.mit.edu	37	chr17	19584867	19584867	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atacccatgattctcattctGaccacaaaggtcagaaggat	14	10	7	10	0	3	3	2	2	2	1	4	4	3	4	2	2	1	0	2	2	3	3			TCGA-G9-A9S0-01A-11D-A41K-08	TCGA-G9-A9S0-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9650173-3de9-42ae-9cb3-0cc866860256	485bddad-e180-4a6e-ae2c-bf6336fa9bd2	g.chr17:19584867G>T	ENST00000325411.5	-	14	1439	c.1389C>A	c.(1387-1389)gtC>gtA	p.V463V	SLC47A2_ENST00000350657.5_Silent_p.V441V|SLC47A2_ENST00000463318.1_5'UTR	NM_152908.3	NP_690872.2	Q86VL8	S47A2_HUMAN	solute carrier family 47 (multidrug and toxin extrusion), member 2	463					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	antiporter activity (GO:0015297)|drug transmembrane transporter activity (GO:0015238)			endometrium(2)|kidney(3)|large_intestine(2)|lung(1)|ovary(1)	9	all_cancers(12;2.3e-05)|all_epithelial(12;0.0024)|Breast(13;0.245)				Aciclovir(DB00787)	TTCTCATTCTGACCACAAAGG	0.537																																						ENST00000350657.5																			0				endometrium(2)|kidney(3)|large_intestine(2)|lung(1)|ovary(1)	9						c.(1321-1323)gtC>gtA		solute carrier family 47 (multidrug and toxin extrusion), member 2							82	72	75					17																	19584867		2203	4300	6503	SO:0001819	synonymous_variant	146802					integral to membrane|plasma membrane	drug:hydrogen antiporter activity	g.chr17:19584867G>T	AB250364	CCDS11211.1, CCDS58530.1	17p11.2	2013-07-17	2013-07-17		ENSG00000180638	ENSG00000180638		"Solute carriers"	26439	protein-coding gene	gene with protein product	"multidrug and toxin extrusion 2"	609833				16996621, 16807400	Standard	NM_152908		Approved	FLJ31196, MATE2, MATE2-K	uc002gwf.4	Q86VL8	OTTHUMG00000059464	ENST00000325411.5:c.1389C>A	17.37:g.19584867G>T						SLC47A2_ENST00000325411.5_Silent_p.V463V|SLC47A2_ENST00000463318.1_5'UTR	p.V441V	NM_001099646.1|NM_001256663.1	NP_001093116.1|NP_001243592.1	Q86VL8	S47A2_HUMAN			15	1497	-	all_cancers(12;2.3e-05)|all_epithelial(12;0.0024)|Breast(13;0.245)		463					A0JBX9|A0P8Z7|Q63HJ9|Q8IV44|Q96NA1	Silent	SNP	ENST00000325411.5	37	c.1323C>A	CCDS11211.1																																																																																				0.537	SLC47A2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000132242.2	NM_152908		13	22	1	0	4.3838e-07	1	4.60861e-07	13	22					T	19584867	G	T	19584867	2	4	189	1	0	0	0	0	0	0	0	1	14648	1277	45	5		5	SLC47A2	17	19584867	Silent	SNP	G	TCGA-G9-A9S0-01A-11D-A41K-08	12007726	19584867	61610343	24	8842											
AOC2	314	broad.mit.edu	37	chr17	40996957	40996957	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gctgccccccaaggctgcagCcctggcccacctggacaggg	6	4	13	18	0	0	0	0	0	0	0	0	1	0	1	6	4	3	3	6	4	1	0			TCGA-G9-A9S0-01A-11D-A41K-08	TCGA-G9-A9S0-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9650173-3de9-42ae-9cb3-0cc866860256	485bddad-e180-4a6e-ae2c-bf6336fa9bd2	g.chr17:40996957C>T	ENST00000253799.3	+	1	341	c.314C>T	c.(313-315)gCc>gTc	p.A105V	AOC2_ENST00000452774.2_Missense_Mutation_p.A105V	NM_009590.2	NP_033720.2	O75106	AOC2_HUMAN	amine oxidase, copper containing 2 (retina-specific)	105					amine metabolic process (GO:0009308)|catecholamine metabolic process (GO:0006584)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	aliphatic-amine oxidase activity (GO:0052595)|aminoacetone:oxygen oxidoreductase(deaminating) activity (GO:0052594)|copper ion binding (GO:0005507)|electron carrier activity (GO:0009055)|phenethylamine:oxygen oxidoreductase (deaminating) activity (GO:0052596)|primary amine oxidase activity (GO:0008131)|quinone binding (GO:0048038)|tryptamine:oxygen oxidoreductase (deaminating) activity (GO:0052593)			NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(14)|ovary(4)|skin(2)	30		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.156)		AAGGCTGCAGCCCTGGCCCAC	0.682																																						ENST00000253799.3																			0				NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(14)|ovary(4)|skin(2)	30						c.(313-315)gCc>gTc		amine oxidase, copper containing 2 (retina-specific)							35	41	39					17																	40996957		2202	4297	6499	SO:0001583	missense	314				catecholamine metabolic process|visual perception	cytoplasm|plasma membrane	aliphatic-amine oxidase activity|aminoacetone:oxygen oxidoreductase(deaminating) activity|copper ion binding|electron carrier activity|phenethylamine:oxygen oxidoreductase (deaminating) activity|primary amine oxidase activity|quinone binding|tryptamine:oxygen oxidoreductase (deaminating) activity	g.chr17:40996957C>T	AF081363	CCDS11443.1, CCDS45690.1	17q21	2012-07-13				ENSG00000131480	1.4.3.21		549	protein-coding gene	gene with protein product		602268				9119395, 9722954	Standard	NM_001158		Approved	RAO, DAO2	uc002ibu.3	O75106		ENST00000253799.3:c.314C>T	17.37:g.40996957C>T	ENSP00000253799:p.Ala105Val					AOC2_ENST00000452774.2_Missense_Mutation_p.A105V	p.A105V	NM_009590.2	NP_033720.2	O75106	AOC2_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.156)	1	341	+		Breast(137;0.000143)	105					A5PKW2|O00120|O75105|Q4TTW5|Q9UNY0	Missense_Mutation	SNP	ENST00000253799.3	37	c.314C>T	CCDS11443.1	.	.	.	.	.	.	.	.	.	.	C	7.398	0.632253	0.14322	.	.	ENSG00000131480	ENST00000253799;ENST00000452774	T;T	0.18016	2.24;2.24	5.28	5.28	0.74379	Copper amine oxidase, N2/N3-terminal (1);Copper amine oxidase, N-terminal (1);Copper amine oxidase, N2-terminal (1);	0.177544	0.49305	D	0.000148	T	0.09468	0.0233	N	0.11201	0.11	0.38041	D	0.935478	P;B	0.39737	0.685;0.389	B;B	0.44315	0.446;0.421	T	0.17471	-1.0368	10	0.02654	T	1	-12.5735	9.2157	0.37346	0.0:0.8381:0.0:0.1619	.	105;105	O75106;O75106-2	AOC2_HUMAN;.	V	105	ENSP00000253799:A105V;ENSP00000406134:A105V	ENSP00000253799:A105V	A	+	2	0	AOC2	38250483	0.998000	0.40836	1.000000	0.80357	0.799000	0.45148	1.745000	0.38278	2.745000	0.94114	0.655000	0.94253	GCC		0.682	AOC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452442.1	NM_009590, NM_001158		18	52	0	0	0	1	0	18	52					T	40996957	C	T	40996957	3	4	189	1	0	0	0	0	1	0	0	0	727	739	26	3	316	3	AOC2	17	40996957	Missense_Mutation	SNP	C	TCGA-G9-A9S0-01A-11D-A41K-08	21412090	40996957	40198253	25	8843											
DLX3	1747	broad.mit.edu	37	chr17	48072109	48072109	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggaggctccgtaggtatatTccgacttgggcgagtaagcg	9	9	15	8	4	0	0	0	0	0	0	2	3	2	1	2	4	1	4	2	4	4	6			TCGA-G9-A9S0-01A-11D-A41K-08	TCGA-G9-A9S0-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9650173-3de9-42ae-9cb3-0cc866860256	485bddad-e180-4a6e-ae2c-bf6336fa9bd2	g.chr17:48072109T>G	ENST00000434704.2	-	1	479	c.254A>C	c.(253-255)gAa>gCa	p.E85A	DLX3_ENST00000512495.2_5'Flank|RP11-1094H24.3_ENST00000511867.1_lincRNA	NM_005220.2	NP_005211.1	O60479	DLX3_HUMAN	distal-less homeobox 3	85					blood vessel development (GO:0001568)|odontoblast differentiation (GO:0071895)|odontogenesis of dentin-containing tooth (GO:0042475)|placenta development (GO:0001890)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	12						GTAGGTATATTCCGACTTGGG	0.637																																						ENST00000434704.2																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	12						c.(253-255)gAa>gCa		distal-less homeobox 3							65	70	68					17																	48072109		2203	4300	6503	SO:0001583	missense	1747					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr17:48072109T>G		CCDS11556.1	17q21.33	2011-06-20	2005-12-22			ENSG00000064195		"Homeoboxes / ANTP class : NKL subclass"	2916	protein-coding gene	gene with protein product		600525	"distal-less homeo box 3"			7613049	Standard	NM_005220		Approved		uc002ipy.3	O60479		ENST00000434704.2:c.254A>C	17.37:g.48072109T>G	ENSP00000389870:p.Glu85Ala						p.E85A	NM_005220.2	NP_005211.1	O60479	DLX3_HUMAN			1	479	-			85					B3KQL6	Missense_Mutation	SNP	ENST00000434704.2	37	c.254A>C	CCDS11556.1	.	.	.	.	.	.	.	.	.	.	T	18.19	3.569567	0.65765	.	.	ENSG00000064195	ENST00000434704	D	0.90261	-2.64	5.01	5.01	0.66863	.	0.000000	0.85682	D	0.000000	D	0.89312	0.6679	M	0.78049	2.395	0.80722	D	1	B	0.18310	0.027	B	0.17098	0.017	D	0.85389	0.1124	10	0.21540	T	0.41	-18.0633	12.7113	0.57092	0.0:0.0:0.0:1.0	.	85	O60479	DLX3_HUMAN	A	85	ENSP00000389870:E85A	ENSP00000389870:E85A	E	-	2	0	DLX3	45427108	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	6.009000	0.70745	2.115000	0.64714	0.402000	0.26972	GAA		0.637	DLX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366307.1			11	38	0	0	0	1	0	11	38					G	48072109	T	G	48072109	3	3	189	1	0	0	0	0	1	0	0	0	4572	1783	62	5	621	5	DLX3	17	48072109	Missense_Mutation	SNP	T	TCGA-G9-A9S0-01A-11D-A41K-08	7075152	48072109	33123101	26	8844											
DCC	1630	broad.mit.edu	37	chr18	51013194	51013194	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gagcgccatcccggtgccaaCgctagaaagtgcccagtacc	10	5	11	15	3	0	1	0	0	0	1	1	2	1	1	5	1	5	2	5	1	4	2			TCGA-G9-A9S0-01A-11D-A41K-08	TCGA-G9-A9S0-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9650173-3de9-42ae-9cb3-0cc866860256	485bddad-e180-4a6e-ae2c-bf6336fa9bd2	g.chr18:51013194C>T	ENST00000442544.2	+	26	4380	c.3764C>T	c.(3763-3765)aCg>aTg	p.T1255M	RP11-671P2.1_ENST00000582064.1_RNA|DCC_ENST00000581580.1_Missense_Mutation_p.T890M	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	DCC netrin 1 receptor	1255					anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|axonogenesis (GO:0007409)|dorsal/ventral axon guidance (GO:0033563)|negative regulation of collateral sprouting (GO:0048671)|negative regulation of dendrite development (GO:2000171)|negative regulation of neuron projection development (GO:0010977)|neuron migration (GO:0001764)|positive regulation of apoptotic process (GO:0043065)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron projection development (GO:0010976)|regulation of apoptotic process (GO:0042981)|response to amphetamine (GO:0001975)|spinal cord ventral commissure morphogenesis (GO:0021965)	axon (GO:0030424)|cytosol (GO:0005829)|growth cone membrane (GO:0032584)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	netrin receptor activity (GO:0005042)|transcription coactivator activity (GO:0003713)|transmembrane signaling receptor activity (GO:0004888)			NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		CCGGTGCCAACGCTAGAAAGT	0.512																																						ENST00000442544.2																			0				NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148						c.(3763-3765)aCg>aTg		deleted in colorectal carcinoma							114	103	107					18																	51013194		2203	4300	6503	SO:0001583	missense	1630				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane		g.chr18:51013194C>T	X76132	CCDS11952.1	18q21.1	2014-06-20	2014-06-20		ENSG00000187323	ENSG00000187323		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	2701	protein-coding gene	gene with protein product	"immunoglobulin superfamily, DCC subclass, member 1"	120470	"deleted in colorectal carcinoma"			2294591, 24400119	Standard	NM_005215		Approved	IGDCC1, NTN1R1	uc002lfe.2	P43146	OTTHUMG00000132698	ENST00000442544.2:c.3764C>T	18.37:g.51013194C>T	ENSP00000389140:p.Thr1255Met					DCC_ENST00000581580.1_Missense_Mutation_p.T890M|RP11-671P2.1_ENST00000582064.1_RNA	p.T1255M	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)	26	4380	+		all_cancers(7;0.11)|all_epithelial(6;0.00126)	1255						Missense_Mutation	SNP	ENST00000442544.2	37	c.3764C>T	CCDS11952.1	.	.	.	.	.	.	.	.	.	.	C	11.90	1.776825	0.31411	.	.	ENSG00000187323	ENST00000442544	T	0.53640	0.61	5.34	5.34	0.76211	Neogenin, C-terminal (1);	0.075451	0.53938	D	0.000060	T	0.61726	0.2370	L	0.44542	1.39	0.53005	D	0.999968	D	0.89917	1.0	D	0.67725	0.953	T	0.63963	-0.6518	10	0.72032	D	0.01	-9.2951	17.8261	0.88666	0.0:1.0:0.0:0.0	.	1255	P43146	DCC_HUMAN	M	1255	ENSP00000389140:T1255M	ENSP00000389140:T1255M	T	+	2	0	DCC	49267192	1.000000	0.71417	0.995000	0.50966	0.464000	0.32679	6.474000	0.73578	2.499000	0.84300	0.462000	0.41574	ACG		0.512	DCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255996.3	NM_005215		12	53	0	0	0	1	0	12	53					T	51013194	C	T	51013194	3	4	189	1	0	0	0	0	1	0	0	0	4282	536	19	1	3866	1	DCC	18	51013194	Missense_Mutation	SNP	C	TCGA-G9-A9S0-01A-11D-A41K-08		51013194	27064054	27	8845											
SERPINB13	5275	broad.mit.edu	37	chr18	61256912	61256912	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtttcactctgaaaaagagaCgaagagctcaagaataaagg	18	7	10	6	1	3	4	2	1	1	3	3	6	3	4	0	1	1	2	0	1	7	2	rs61733412	byFrequency	TCGA-G9-A9S0-01A-11D-A41K-08	TCGA-G9-A9S0-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9650173-3de9-42ae-9cb3-0cc866860256	485bddad-e180-4a6e-ae2c-bf6336fa9bd2	g.chr18:61256912C>T	ENST00000344731.5	+	3	290	c.188C>T	c.(187-189)aCg>aTg	p.T63M	SERPINB13_ENST00000269489.5_Missense_Mutation_p.T63M	NM_012397.3	NP_036529.1	Q9UIV8	SPB13_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 13	63					negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)|response to UV (GO:0009411)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|urinary_tract(1)	25						GAAAAAGAGACGAAGAGCTCA	0.418													C|||	4	0.000798722	0.0023	0	5008	,	,		17214	0		0.001	False		,,,				2504	0					ENST00000344731.5																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|urinary_tract(1)	25						c.(187-189)aCg>aTg		serpin peptidase inhibitor, clade B (ovalbumin), member 13		C	MET/THR	3,4403	6.2+/-15.9	0,3,2200	71	62	65		188	-1	0	18	dbSNP_129	65	4,8596	3.7+/-12.6	0,4,4296	yes	missense	SERPINB13	NM_012397.3	81	0,7,6496	TT,TC,CC		0.0465,0.0681,0.0538	benign	63/392	61256912	7,12999	2203	4300	6503	SO:0001583	missense	5275				regulation of proteolysis|response to UV	cytoplasm|extracellular region	serine-type endopeptidase inhibitor activity	g.chr18:61256912C>T	AF169949, BC101821	CCDS11985.1	18q21.33	2014-02-18	2005-08-18		ENSG00000197641	ENSG00000197641		"Serine (or cysteine) peptidase inhibitors"	8944	protein-coding gene	gene with protein product		604445	"serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 13"	PI13		9297979, 10512713, 24172014	Standard	NM_012397		Approved	HUR7, hurpin, headpin	uc002ljc.3	Q9UIV8	OTTHUMG00000060406	ENST00000344731.5:c.188C>T	18.37:g.61256912C>T	ENSP00000341584:p.Thr63Met					SERPINB13_ENST00000269489.5_Missense_Mutation_p.T63M	p.T63M	NM_012397.3	NP_036529.1	Q9UIV8	SPB13_HUMAN			3	290	+			63					A8K2Q8|Q3MII2|Q9HCX1|Q9UBW1|Q9UKG0	Missense_Mutation	SNP	ENST00000344731.5	37	c.188C>T	CCDS11985.1	2	9.157509157509158E-4	1	0.0020325203252032522	0	0.0	0	0.0	1	0.0013192612137203166	C	3.077	-0.189746	0.06299	6.81E-4	4.65E-4	ENSG00000197641	ENST00000431153;ENST00000269489;ENST00000539341;ENST00000344731;ENST00000415733	T;T;D;D	0.84589	-1.01;2.75;-1.64;-1.87	4.33	-0.973	0.10297	Serpin domain (3);	6.420240	0.00166	N	0.000012	D	0.82559	0.5063	L	0.53729	1.69	0.09310	N	1	B;B	0.33807	0.426;0.036	B;B	0.39068	0.289;0.022	T	0.66126	-0.6001	10	0.54805	T	0.06	.	2.8988	0.05699	0.3294:0.3802:0.0:0.2904	rs61733412	63;63	B7ZKV6;Q9UIV8	.;SPB13_HUMAN	M	93;63;63;63;42	ENSP00000388300:T93M;ENSP00000269489:T63M;ENSP00000341584:T63M;ENSP00000391156:T42M	ENSP00000269489:T63M	T	+	2	0	SERPINB13	59407892	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	-0.143000	0.10296	-0.029000	0.13827	-0.126000	0.14955	ACG		0.418	SERPINB13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133798.1	NM_012397		3	16	0	0	0	1	0	3	16					T	61256912	C	T	61256912	3	4	189	1	0	0	0	0	1	0	0	0	14100	536	19	1	194	1	SERPINB13	18	61256912	Missense_Mutation	SNP	C	TCGA-G9-A9S0-01A-11D-A41K-08	10243718	61256912	16820336	28	8846											
TBXA2R	6915	broad.mit.edu	37	chr19	3600433	3600433	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggtgaggacgaggccgcagAggaaggtgaggaaggaggag	12	2	22	5	3	0	3	0	2	0	1	0	9	0	8	1	8	0	1	1	8	2	0			TCGA-G9-A9S0-01A-11D-A41K-08	TCGA-G9-A9S0-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9650173-3de9-42ae-9cb3-0cc866860256	485bddad-e180-4a6e-ae2c-bf6336fa9bd2	g.chr19:3600433A>T	ENST00000375190.4	-	2	593	c.200T>A	c.(199-201)cTc>cAc	p.L67H	TBXA2R_ENST00000587717.1_5'Flank|TBXA2R_ENST00000411851.3_Missense_Mutation_p.L67H|TBXA2R_ENST00000589966.1_Missense_Mutation_p.L67H	NM_001060.5|NM_201636.2	NP_001051.1|NP_963998.2	P21731	TA2R_HUMAN	thromboxane A2 receptor	67					blood coagulation (GO:0007596)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|platelet activation (GO:0030168)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood pressure (GO:0045777)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of GTPase activity (GO:0043547)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of vasoconstriction (GO:0045907)|response to drug (GO:0042493)|response to lipopolysaccharide (GO:0032496)|response to nutrient (GO:0007584)|second-messenger-mediated signaling (GO:0019932)|thromboxane A2 signaling pathway (GO:0038193)	acrosomal vesicle (GO:0001669)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|thromboxane A2 receptor activity (GO:0004961)			kidney(1)|lung(2)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	8		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18)	Ridogrel(DB01207)	GAGGCCGCAGAGGAAGGTGAG	0.701																																						ENST00000375190.4																			0				kidney(1)|lung(2)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	8						c.(199-201)cTc>cAc		thromboxane A2 receptor	Ridogrel(DB01207)						41	59	53					19																	3600433		2172	4240	6412	SO:0001583	missense	0				platelet activation	integral to plasma membrane	guanyl-nucleotide exchange factor activity|protein binding|thromboxane A2 receptor activity	g.chr19:3600433A>T		CCDS42467.1, CCDS54198.1	19p13.3	2014-09-17						"GPCR / Class A : Prostanoid receptors"	11608	protein-coding gene	gene with protein product		188070				1825698	Standard	NM_001060		Approved		uc021umv.1	P21731		ENST00000375190.4:c.200T>A	19.37:g.3600433A>T	ENSP00000364336:p.Leu67His					TBXA2R_ENST00000589966.1_Missense_Mutation_p.L67H|TBXA2R_ENST00000411851.3_Missense_Mutation_p.L67H	p.L67H	NM_001060.5|NM_201636.2	NP_001051.1|NP_963998.2	P21731	TA2R_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18)	2	593	-		Hepatocellular(1079;0.137)	67					O75228|Q6DK52|Q9UCY1|Q9UCY2	Missense_Mutation	SNP	ENST00000375190.4	37	c.200T>A	CCDS42467.1	.	.	.	.	.	.	.	.	.	.	A	22.3	4.266958	0.80469	.	.	ENSG00000006638	ENST00000411851;ENST00000375190	T;T	0.53857	0.6;0.6	4.56	4.56	0.56223	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000003	T	0.70072	0.3182	M	0.72894	2.215	0.49299	D	0.999778	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.998	T	0.73978	-0.3812	10	0.72032	D	0.01	-38.7679	13.0377	0.58881	1.0:0.0:0.0:0.0	.	67;67	P21731;E2QRJ2	TA2R_HUMAN;.	H	67	ENSP00000393333:L67H;ENSP00000364336:L67H	ENSP00000364336:L67H	L	-	2	0	TBXA2R	3551433	1.000000	0.71417	0.995000	0.50966	0.944000	0.59088	5.156000	0.64905	1.814000	0.52955	0.260000	0.18958	CTC		0.701	TBXA2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453081.2			8	21	0	0	0	1	0	8	21					T	3600433	A	T	3600433	3	4	189	1	0	0	0	0	1	0	0	0	15660	304	11	5	1084	5	TBXA2R	19	3600433	Missense_Mutation	SNP	A	TCGA-G9-A9S0-01A-11D-A41K-08		3600433	55528550	29	8847											
CNN1	1264	broad.mit.edu	37	chr19	11660241	11660241	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaccagcctctggaccaggCgaccatcagcctgcagatgg	10	5	12	14	1	2	2	1	0	1	2	2	4	2	3	5	3	3	1	5	3	0	0			TCGA-G9-A9S0-01A-11D-A41K-08	TCGA-G9-A9S0-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9650173-3de9-42ae-9cb3-0cc866860256	485bddad-e180-4a6e-ae2c-bf6336fa9bd2	g.chr19:11660241C>T	ENST00000252456.2	+	6	816	c.605C>T	c.(604-606)gCg>gTg	p.A202V	CNN1_ENST00000544952.1_Missense_Mutation_p.A182V|CNN1_ENST00000592923.1_Missense_Mutation_p.A152V|CNN1_ENST00000535659.2_Missense_Mutation_p.A152V	NM_001299.4	NP_001290.2	P51911	CNN1_HUMAN	calponin 1, basic, smooth muscle	202					actomyosin structure organization (GO:0031032)|regulation of smooth muscle contraction (GO:0006940)	cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)		p.A202V(1)		breast(1)|endometrium(2)|large_intestine(4)|lung(2)	9						CTGGACCAGGCGACCATCAGC	0.682																																						ENST00000592923.1																			1	Substitution - Missense(1)	p.A202V(1)	large_intestine(1)	breast(1)|endometrium(2)|large_intestine(4)|lung(2)	9						c.(454-456)gCg>gTg		calponin 1, basic, smooth muscle							42	43	43					19																	11660241		2203	4300	6503	SO:0001583	missense	1264				actomyosin structure organization|regulation of smooth muscle contraction	cytoskeleton	actin binding|calmodulin binding	g.chr19:11660241C>T	U37019	CCDS12263.1	19p13.2-p13.1	2008-07-16				ENSG00000130176			2155	protein-coding gene	gene with protein product		600806				8526917, 9332369	Standard	XM_005259741		Approved	SMCC, Sm-Calp	uc002msc.1	P51911		ENST00000252456.2:c.605C>T	19.37:g.11660241C>T	ENSP00000252456:p.Ala202Val					CNN1_ENST00000544952.1_Missense_Mutation_p.A182V|CNN1_ENST00000535659.2_Missense_Mutation_p.A152V|CNN1_ENST00000252456.2_Missense_Mutation_p.A202V	p.A152V			P51911	CNN1_HUMAN			7	1032	+			202					B2R868|B4DUX6|O00638|Q15416|Q8IY93|Q99438	Missense_Mutation	SNP	ENST00000252456.2	37	c.455C>T	CCDS12263.1	.	.	.	.	.	.	.	.	.	.	C	28.1	4.888931	0.91814	.	.	ENSG00000130176	ENST00000252456;ENST00000535659;ENST00000544952	T;T;T	0.33865	1.39;1.39;1.39	5.21	5.21	0.72293	.	0.053759	0.85682	D	0.000000	T	0.35740	0.0942	L	0.39898	1.24	0.48395	D	0.999646	P	0.50943	0.94	B	0.43251	0.413	T	0.26710	-1.0095	10	0.66056	D	0.02	-48.1972	17.5118	0.87762	0.0:1.0:0.0:0.0	.	202	P51911	CNN1_HUMAN	V	202;152;182	ENSP00000252456:A202V;ENSP00000442031:A152V;ENSP00000437470:A182V	ENSP00000252456:A202V	A	+	2	0	CNN1	11521241	1.000000	0.71417	0.999000	0.59377	0.952000	0.60782	5.602000	0.67612	2.442000	0.82660	0.471000	0.43371	GCG		0.682	CNN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458854.1	NM_001299		7	25	0	0	0	1	0	7	25					T	11660241	C	T	11660241	3	4	189	1	0	0	0	0	1	0	0	0	3609	768	27	1	627	1	CNN1	19	11660241	Missense_Mutation	SNP	C	TCGA-G9-A9S0-01A-11D-A41K-08	8059808	11660241	47468742	30	8848											
NAPSA	9476	broad.mit.edu	37	chr19	50868849	50868849	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agcagaggcagcagcagcagCaggggttgcagcagcggtgg	10	3	19	9	1	0	1	0	0	0	1	0	1	0	1	0	5	8	9	0	5	0	1			TCGA-G9-A9S0-01A-11D-A41K-08	TCGA-G9-A9S0-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9650173-3de9-42ae-9cb3-0cc866860256	485bddad-e180-4a6e-ae2c-bf6336fa9bd2	g.chr19:50868849C>T	ENST00000253719.2	-	1	238	c.30G>A	c.(28-30)ctG>ctA	p.L10L	NR1H2_ENST00000542413.1_Intron|CTB-191K22.6_ENST00000597049.1_RNA|NR1H2_ENST00000600978.1_Intron	NM_004851.1	NP_004842.1	O96009	NAPSA_HUMAN	napsin A aspartic peptidase	10					membrane protein proteolysis (GO:0033619)|proteolysis (GO:0006508)|surfactant homeostasis (GO:0043129)	alveolar lamellar body (GO:0097208)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	aspartic-type endopeptidase activity (GO:0004190)|endopeptidase activity (GO:0004175)|peptidase activity (GO:0008233)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|skin(3)	12		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00743)|GBM - Glioblastoma multiforme(134;0.0183)		gcagcagcagcaggggttgca	0.602																																						ENST00000253719.2																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|skin(3)	12						c.(28-30)ctG>ctA		napsin A aspartic peptidase							39	36	37					19																	50868849		2203	4300	6503	SO:0001819	synonymous_variant	9476				proteolysis	extracellular region	aspartic-type endopeptidase activity	g.chr19:50868849C>T	AF090386	CCDS12794.1	19q13.33	2011-08-25				ENSG00000131400			13395	protein-coding gene	gene with protein product	"kidney-derived aspartic protease-like protein"	605631					Standard	NM_004851		Approved	NAP1, NAPA, Kdap, KAP	uc002prx.3	O96009		ENST00000253719.2:c.30G>A	19.37:g.50868849C>T						NR1H2_ENST00000600978.1_Intron|NR1H2_ENST00000542413.1_Intron	p.L10L	NM_004851.1	NP_004842.1	O96009	NAPSA_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00743)|GBM - Glioblastoma multiforme(134;0.0183)	1	238	-		all_neural(266;0.057)	10					Q8WWD9	Silent	SNP	ENST00000253719.2	37	c.30G>A	CCDS12794.1																																																																																				0.602	NAPSA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464714.1	NM_004851		3	16	0	0	0	1	0	3	16					T	50868849	C	T	50868849	2	4	189	1	0	0	0	0	0	0	0	1	10166	697	25	3		3	NAPSA	19	50868849	Silent	SNP	C	TCGA-G9-A9S0-01A-11D-A41K-08	39208608	50868849	8260134	31	8849											
ALG13	79868	broad.mit.edu	37	chrX	110952229	110952229	+	Frame_Shift_Del	DEL	A	A	-																															tccatcatttggaaatcaggAaggcttgtgtctcatatatg																										TCGA-G9-A9S0-01A-11D-A41K-08	TCGA-G9-A9S0-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9650173-3de9-42ae-9cb3-0cc866860256	485bddad-e180-4a6e-ae2c-bf6336fa9bd2	g.chrX:110952229delA	ENST00000394780.3	+	5	799	c.787delA	c.(787-789)aagfs	p.K263fs	ALG13-AS1_ENST00000430794.1_RNA|ALG13_ENST00000251943.4_Frame_Shift_Del_p.K159fs	NM_001099922.2|NM_001257231.1	NP_001093392.1|NP_001244160.1	Q9NP73	ALG13_HUMAN	ALG13, UDP-N-acetylglucosaminyltransferase subunit	263	Deubiquitinase activity.|OTU. {ECO:0000255|PROSITE- ProRule:PRU00139}.				cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|lipid glycosylation (GO:0030259)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)	carbohydrate binding (GO:0030246)|cysteine-type peptidase activity (GO:0008234)|N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase activity (GO:0004577)|poly(A) RNA binding (GO:0044822)			endometrium(2)|lung(10)|skin(1)	13						GGAAATCAGGAAGGCTTGTGT	0.403																																						ENST00000394780.3																			0				endometrium(2)|lung(10)|skin(1)	13						c.(787-789)agfs		ALG13, UDP-N-acetylglucosaminyltransferase subunit							87	69	75					X																	110952229		1568	3579	5147	SO:0001589	frameshift_variant	79868				dolichol-linked oligosaccharide biosynthetic process|lipid glycosylation|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane	carbohydrate binding|N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase activity	g.chrX:110952229delA	AF220051	CCDS14559.1, CCDS55477.1, CCDS59173.1, CCDS76011.1, CCDS76012.1, CCDS76013.1	Xq23	2014-02-24	2013-02-21	2006-11-07	ENSG00000101901	ENSG00000101901	2.4.1.141	"Tudor domain containing", "OTU domain containing"	30881	protein-coding gene	gene with protein product	"tudor domain containing 13", "N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase"	300776	"glycosyltransferase 28 domain containing 1", "chromosome X open reading frame 45", "asparagine-linked glycosylation 13 homolog (S. cerevisiae)"	GLT28D1, CXorf45		12477932	Standard	NM_018466		Approved	MDS031, YGL047W, FLJ23018, TDRD13	uc011msy.2	Q9NP73	OTTHUMG00000022209	ENST00000394780.3:c.787delA	X.37:g.110952229delA	ENSP00000378260:p.Lys263fs					ALG13_ENST00000251943.4_Frame_Shift_Del_p.K159fs|ALG13-AS1_ENST00000430794.1_RNA	p.K263fs	NM_001099922.2|NM_001257231.1	NP_001093392.1|NP_001244160.1	Q9NP73	ALG13_HUMAN			5	799	+			263			OTU.		B1AKD6|B1AKM1|B2R5L5|B7Z6J0|B7Z804|B7Z847|B7Z9A8|B7ZAJ1|B7ZB57|Q17RC3|Q5JXY9|Q9H5U8	Frame_Shift_Del	DEL	ENST00000394780.3	37	c.787delA	CCDS55477.1																																																																																				0.403	ALG13-011	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000272895.1	NM_018466		2	4						2	4	---	---	---	---	-	110952229	A	-	110952229	7	5	189	1	0	1	0	1	0	0	0	0	515	247	9	0	947	0	ALG13	23	110952229	Frame_Shift_Del	DEL	A	TCGA-G9-A9S0-01A-11D-A41K-08		110952229	44318331	32	8850											
SASS6	163786	broad.mit.edu	37	chr1	100586957	100586957	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gctacatttcaaacagcctgCgagaaatttctttatctcca	12	13	5	11	1	3	1	1	0	2	1	4	2	3	1	2	0	4	1	2	0	4	5			TCGA-G9-A9S4-01A-11D-A41K-08	TCGA-G9-A9S4-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d36ef053-e634-4711-9ee4-dac20b166856	3aac36e8-fe99-4218-9fb8-dba6dd6ea066	g.chr1:100586957C>A	ENST00000287482.5	-	5	600	c.460G>T	c.(460-462)Gca>Tca	p.A154S	SASS6_ENST00000462159.1_5'UTR|SASS6_ENST00000535161.1_5'UTR	NM_194292.1	NP_919268.1	Q6UVJ0	SAS6_HUMAN	spindle assembly 6 homolog (C. elegans)	154					centriole replication (GO:0007099)|centrosome duplication (GO:0051298)	centriole (GO:0005814)|centrosome (GO:0005813)|deuterosome (GO:0098536)				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	19		all_epithelial(167;4.58e-06)|all_lung(203;0.00125)|Lung NSC(277;0.00131)		Epithelial(280;0.085)|all cancers(265;0.139)|COAD - Colon adenocarcinoma(174;0.15)|Lung(183;0.197)		AAACAGCCTGCGAGAAATTTC	0.294																																						ENST00000287482.5																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	19						c.(460-462)Gca>Tca		spindle assembly 6 homolog (C. elegans)							55	57	56					1																	100586957		2202	4300	6502	SO:0001583	missense	163786				centriole replication	centriole		g.chr1:100586957C>A	AL834265	CCDS764.1	1p21.3	2008-02-05			ENSG00000156876	ENSG00000156876			25403	protein-coding gene	gene with protein product		609321				15665853, 14654843	Standard	NM_194292		Approved	DKFZp761A078, SAS-6, FLJ22097, SAS6	uc001dsu.3	Q6UVJ0	OTTHUMG00000010754	ENST00000287482.5:c.460G>T	1.37:g.100586957C>A	ENSP00000287482:p.Ala154Ser					SASS6_ENST00000462159.1_5'UTR|SASS6_ENST00000535161.1_5'UTR	p.A154S	NM_194292.1	NP_919268.1	Q6UVJ0	SAS6_HUMAN		Epithelial(280;0.085)|all cancers(265;0.139)|COAD - Colon adenocarcinoma(174;0.15)|Lung(183;0.197)	5	600	-		all_epithelial(167;4.58e-06)|all_lung(203;0.00125)|Lung NSC(277;0.00131)	154					D3DT55|Q8N3K0	Missense_Mutation	SNP	ENST00000287482.5	37	c.460G>T	CCDS764.1	.	.	.	.	.	.	.	.	.	.	C	27.4	4.830817	0.91036	.	.	ENSG00000156876	ENST00000287482;ENST00000539329	T	0.37584	1.19	5.61	5.61	0.85477	.	0.108809	0.64402	D	0.000008	T	0.58666	0.2138	M	0.81179	2.53	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.56709	-0.7934	10	0.44086	T	0.13	-19.0466	20.0018	0.97417	0.0:1.0:0.0:0.0	.	154	Q6UVJ0	SAS6_HUMAN	S	154;127	ENSP00000287482:A154S	ENSP00000287482:A154S	A	-	1	0	SASS6	100359545	1.000000	0.71417	1.000000	0.80357	0.897000	0.52465	6.651000	0.74372	2.793000	0.96121	0.655000	0.94253	GCA		0.294	SASS6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029656.2	NM_194292		14	36	1	0	3.27435e-08	1	3.48335e-08	14	36					A	100586957	C	A	100586957	3	1	190	1	0	0	0	0	1	0	0	0	13850	768	27	5	1565	5	SASS6	1	100586957	Missense_Mutation	SNP	C	TCGA-G9-A9S4-01A-11D-A41K-08		100586957	148663664	1	8851											
LYST	1130	broad.mit.edu	37	chr1	235922371	235922371	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tatcaacaagacttggccaaCggccaacagctgcagatccg	13	6	9	13	2	1	2	1	0	0	2	2	2	2	2	3	2	5	2	3	2	5	2	rs147791378	byFrequency	TCGA-G9-A9S4-01A-11D-A41K-08	TCGA-G9-A9S4-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d36ef053-e634-4711-9ee4-dac20b166856	3aac36e8-fe99-4218-9fb8-dba6dd6ea066	g.chr1:235922371C>T	ENST00000389794.3	-	23	6956	c.6782G>A	c.(6781-6783)cGt>cAt	p.R2261H	LYST_ENST00000389793.2_Missense_Mutation_p.R2261H			Q99698	LYST_HUMAN	lysosomal trafficking regulator	2261					blood coagulation (GO:0007596)|defense response to bacterium (GO:0042742)|defense response to protozoan (GO:0042832)|defense response to virus (GO:0051607)|endosome to lysosome transport via multivesicular body sorting pathway (GO:0032510)|leukocyte chemotaxis (GO:0030595)|lysosome organization (GO:0007040)|mast cell secretory granule organization (GO:0033364)|melanosome organization (GO:0032438)|microtubule-based process (GO:0007017)|natural killer cell mediated cytotoxicity (GO:0042267)|neutrophil mediated immunity (GO:0002446)|phospholipid homeostasis (GO:0055091)|phospholipid metabolic process (GO:0006644)|pigmentation (GO:0043473)|positive regulation of natural killer cell activation (GO:0032816)|response to drug (GO:0042493)|secretion of lysosomal enzymes (GO:0033299)|T cell mediated immunity (GO:0002456)	cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)				NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			ACTTGGCCAACGGCCAACAGC	0.478													C|||	2	0.000399361	0	0.0029	5008	,	,		18065	0		0	False		,,,				2504	0					ENST00000389794.3																			0				NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162						c.(6781-6783)cGt>cAt		lysosomal trafficking regulator		C	HIS/ARG	0,4406		0,0,2203	73	69	71		6782	2.9	0	1	dbSNP_134	71	4,8596	3.7+/-12.6	0,4,4296	yes	missense	LYST	NM_000081.2	29	0,4,6499	TT,TC,CC		0.0465,0.0,0.0308	probably-damaging	2261/3802	235922371	4,13002	2203	4300	6503	SO:0001583	missense	1130				defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding	g.chr1:235922371C>T	U70064	CCDS31062.1	1q42.1-q42.2	2014-09-17	2004-12-09	2004-12-10	ENSG00000143669	ENSG00000143669		"WD repeat domain containing"	1968	protein-coding gene	gene with protein product		606897	"Chediak-Higashi syndrome 1"	CHS1		8717042, 8896560	Standard	NM_000081		Approved	CHS	uc001hxj.3	Q99698	OTTHUMG00000040527	ENST00000389794.3:c.6782G>A	1.37:g.235922371C>T	ENSP00000374444:p.Arg2261His					LYST_ENST00000389793.2_Missense_Mutation_p.R2261H	p.R2261H			Q99698	LYST_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.000674)		23	6956	-	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	2261					O43274|Q5T2U9|Q96TD7|Q96TD8|Q99709|Q9H133	Missense_Mutation	SNP	ENST00000389794.3	37	c.6782G>A	CCDS31062.1	2	9.157509157509158E-4	0	0.0	2	0.0055248618784530384	0	0.0	0	0.0	C	20.4	3.990142	0.74589	0.0	4.65E-4	ENSG00000143669	ENST00000389794;ENST00000389793	T;T	0.67171	-0.25;-0.25	4.93	2.86	0.33363	.	0.597834	0.18240	N	0.147275	T	0.60830	0.2299	M	0.63428	1.95	0.80722	D	1	D	0.63046	0.992	P	0.47346	0.544	T	0.68078	-0.5504	10	0.72032	D	0.01	.	13.4206	0.60996	0.3351:0.6649:0.0:0.0	.	2261	Q99698	LYST_HUMAN	H	2261	ENSP00000374444:R2261H;ENSP00000374443:R2261H	ENSP00000374443:R2261H	R	-	2	0	LYST	233988994	0.597000	0.26874	0.034000	0.17996	0.911000	0.54048	1.232000	0.32636	0.447000	0.26695	0.558000	0.71614	CGT		0.478	LYST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097533.5			13	28	0	0	0	1	0	13	28					T	235922371	C	T	235922371	3	4	190	1	0	0	0	0	1	0	0	0	9128	536	19	1	4747	1	LYST	1	235922371	Missense_Mutation	SNP	C	TCGA-G9-A9S4-01A-11D-A41K-08	135335414	235922371	13328250	2	8852											
RYR2	6262	broad.mit.edu	37	chr1	237666715	237666715	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaacacagccgagagtacaaGcaagaaagaacttacacacg	19	3	9	10	2	0	3	0	0	0	3	0	5	0	3	1	0	6	2	1	0	7	2			TCGA-G9-A9S4-01A-11D-A41K-08	TCGA-G9-A9S4-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d36ef053-e634-4711-9ee4-dac20b166856	3aac36e8-fe99-4218-9fb8-dba6dd6ea066	g.chr1:237666715G>A	ENST00000366574.2	+	22	2840	c.2523G>A	c.(2521-2523)aaG>aaA	p.K841K	RYR2_ENST00000542537.1_Silent_p.K825K|RYR2_ENST00000360064.6_Silent_p.K839K	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	841					BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GAGAGTACAAGCAAGAAAGAA	0.493																																						ENST00000366574.2																			0				NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586						c.(2521-2523)aaG>aaA		ryanodine receptor 2 (cardiac)							120	125	123					1																	237666715		2019	4171	6190	SO:0001819	synonymous_variant	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237666715G>A	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"Ion channels / Ryanodine receptors", "EF-hand domain containing"	10484	protein-coding gene	gene with protein product		180902	"arrhythmogenic right ventricular dysplasia 2"	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.2523G>A	1.37:g.237666715G>A						RYR2_ENST00000542537.1_Silent_p.K825K|RYR2_ENST00000360064.6_Silent_p.K839K	p.K841K	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		22	2840	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	841					Q15411|Q546N8|Q5T3P2	Silent	SNP	ENST00000366574.2	37	c.2523G>A	CCDS55691.1																																																																																				0.493	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		4	53	0	0	0	1	0	4	53					A	237666715	G	A	237666715	2	1	190	1	0	0	0	0	0	0	0	1	13769	962	34	3		3	RYR2	1	237666715	Silent	SNP	G	TCGA-G9-A9S4-01A-11D-A41K-08	1744344	237666715	11583906	3	8853											
RYR2	6262	broad.mit.edu	37	chr1	237774130	237774130	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccgtgccgcagtgccccccGcgcctccacgtgcagttcct	3	7	10	21	5	0	0	0	0	0	0	2	0	2	0	8	0	3	3	8	0	0	1			TCGA-G9-A9S4-01A-11D-A41K-08	TCGA-G9-A9S4-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d36ef053-e634-4711-9ee4-dac20b166856	3aac36e8-fe99-4218-9fb8-dba6dd6ea066	g.chr1:237774130G>A	ENST00000366574.2	+	36	5069	c.4752G>A	c.(4750-4752)ccG>ccA	p.P1584P	RYR2_ENST00000542537.1_Silent_p.P1568P|RYR2_ENST00000360064.6_Silent_p.P1582P	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1584	4 X approximate repeats.				BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			AGTGCCCCCCGCGCCTCCACG	0.537																																						ENST00000366574.2																			0				NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586						c.(4750-4752)ccG>ccA		ryanodine receptor 2 (cardiac)							50	52	51					1																	237774130		1947	4122	6069	SO:0001819	synonymous_variant	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237774130G>A	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"Ion channels / Ryanodine receptors", "EF-hand domain containing"	10484	protein-coding gene	gene with protein product		180902	"arrhythmogenic right ventricular dysplasia 2"	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.4752G>A	1.37:g.237774130G>A						RYR2_ENST00000542537.1_Silent_p.P1568P|RYR2_ENST00000360064.6_Silent_p.P1582P	p.P1584P	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		36	5069	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	1584			4 X approximate repeats.		Q15411|Q546N8|Q5T3P2	Silent	SNP	ENST00000366574.2	37	c.4752G>A	CCDS55691.1																																																																																				0.537	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		6	11	0	0	0	1	0	6	11					A	237774130	G	A	237774130	2	1	190	1	0	0	0	0	0	0	0	1	13769	1074	38	1		1	RYR2	1	237774130	Silent	SNP	G	TCGA-G9-A9S4-01A-11D-A41K-08	107415	237774130	11476491	4	8854											
OSBPL10	114884	broad.mit.edu	37	chr3	31774769	31774769	+	Frame_Shift_Del	DEL	T	T	-																															ctctggctctggctgtgaggTttgttcgtcttcagcagagt																										TCGA-G9-A9S4-01A-11D-A41K-08	TCGA-G9-A9S4-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d36ef053-e634-4711-9ee4-dac20b166856	3aac36e8-fe99-4218-9fb8-dba6dd6ea066	g.chr3:31774769delT	ENST00000396556.2	-	6	1197	c.1075delA	c.(1075-1077)accfs	p.T359fs	OSBPL10_ENST00000467647.1_5'UTR|OSBPL10_ENST00000438237.2_Frame_Shift_Del_p.T295fs	NM_017784.4	NP_060254.2	Q9BXB5	OSB10_HUMAN	oxysterol binding protein-like 10	359					lipid transport (GO:0006869)		cholesterol binding (GO:0015485)			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	34				STAD - Stomach adenocarcinoma(1;0.00406)		GGCTGTGAGGTTTGTTCGTCT	0.448																																						ENST00000396556.2																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						c.(1075-1077)ccfs		oxysterol binding protein-like 10							142	135	138					3																	31774769		2203	4300	6503	SO:0001589	frameshift_variant	114884				lipid transport		lipid binding	g.chr3:31774769delT	AF392451	CCDS2651.1, CCDS54559.1	3p23	2013-01-10			ENSG00000144645	ENSG00000144645		"Oxysterol binding proteins", "Pleckstrin homology (PH) domain containing"	16395	protein-coding gene	gene with protein product		606738					Standard	NM_001174060		Approved		uc021wuu.1	Q9BXB5	OTTHUMG00000130672	ENST00000396556.2:c.1075delA	3.37:g.31774769delT	ENSP00000379804:p.Thr359fs					OSBPL10_ENST00000467647.1_5'UTR|OSBPL10_ENST00000438237.2_Frame_Shift_Del_p.T295fs	p.T359fs	NM_017784.4	NP_060254.2	Q9BXB5	OSB10_HUMAN		STAD - Stomach adenocarcinoma(1;0.00406)	6	1197	-			359					B4E212|Q9BTU5	Frame_Shift_Del	DEL	ENST00000396556.2	37	c.1075delA	CCDS2651.1																																																																																				0.448	OSBPL10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253165.2			28	70						28	70	---	---	---	---	-	31774769	T	-	31774769	7	5	190	1	0	1	0	1	0	0	0	0	11275	1725	60	0	1247	0	OSBPL10	3	31774769	Frame_Shift_Del	DEL	T	TCGA-G9-A9S4-01A-11D-A41K-08		31774769	166247661	5	8855											
TRANK1	9881	broad.mit.edu	37	chr3	36872645	36872645	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actcgctgttcctctcctgaCactcctccctttccagctca	5	13	4	19	1	2	1	1	1	1	0	8	1	6	1	5	0	1	3	5	0	0	2			TCGA-G9-A9S4-01A-11D-A41K-08	TCGA-G9-A9S4-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d36ef053-e634-4711-9ee4-dac20b166856	3aac36e8-fe99-4218-9fb8-dba6dd6ea066	g.chr3:36872645C>A	ENST00000429976.2	-	21	8544	c.8297G>T	c.(8296-8298)tGt>tTt	p.C2766F	TRANK1_ENST00000428977.2_Missense_Mutation_p.C2216F|TRANK1_ENST00000301807.6_Missense_Mutation_p.C2216F	NM_014831.2	NP_055646.2	O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	2766							ATP binding (GO:0005524)|hydrolase activity (GO:0016787)			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						CCTCTCCTGACACTCCTCCCT	0.547																																						ENST00000301807.6																			0				NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						c.(6646-6648)tGt>tTt		tetratricopeptide repeat and ankyrin repeat containing 1							116	116	116					3																	36872645		2052	4210	6262	SO:0001583	missense	9881				DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding	g.chr3:36872645C>A	AK096678	CCDS46789.1, CCDS46789.2	3p22.2	2013-01-11			ENSG00000168016	ENSG00000168016		"Ankyrin repeat domain containing", "Tetratricopeptide (TTC) repeat domain containing"	29011	protein-coding gene	gene with protein product	"lupus brain antigen 1", "KIAA0342"					9205841	Standard	NM_014831		Approved	LBA1, KIAA0342	uc003cgj.3	O15050	OTTHUMG00000155848	ENST00000429976.2:c.8297G>T	3.37:g.36872645C>A	ENSP00000416168:p.Cys2766Phe					TRANK1_ENST00000428977.2_Missense_Mutation_p.C2216F|TRANK1_ENST00000429976.2_Missense_Mutation_p.C2766F	p.C2216F	NM_014831.2	NP_055646.2	O15050	TRNK1_HUMAN			21	8544	-			2766					Q8N8K0	Missense_Mutation	SNP	ENST00000429976.2	37	c.6647G>T	CCDS46789.2	.	.	.	.	.	.	.	.	.	.	C	7.141	0.581752	0.13749	.	.	ENSG00000168016	ENST00000428977;ENST00000429976;ENST00000301807	T;T;T	0.29655	1.56;1.98;1.56	5.48	1.52	0.23074	.	0.488613	0.18821	N	0.130251	T	0.13415	0.0325	N	0.14661	0.345	0.09310	N	1	B	0.18610	0.029	B	0.11329	0.006	T	0.12553	-1.0543	10	0.46703	T	0.11	.	0.8578	0.01186	0.1574:0.3579:0.153:0.3317	.	2766	O15050	TRNK1_HUMAN	F	2216;2766;2216	ENSP00000416826:C2216F;ENSP00000416168:C2766F;ENSP00000301807:C2216F	ENSP00000301807:C2216F	C	-	2	0	TRANK1	36847649	0.000000	0.05858	0.003000	0.11579	0.484000	0.33280	-0.000000	0.12993	0.815000	0.34398	0.555000	0.69702	TGT		0.547	TRANK1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_014831		8	84	1	0	3.09899e-07	1	3.22811e-07	8	84					A	36872645	C	A	36872645	3	1	190	1	0	0	0	0	1	0	0	0	16451	478	17	5	492	5	TRANK1	3	36872645	Missense_Mutation	SNP	C	TCGA-G9-A9S4-01A-11D-A41K-08	5097876	36872645	161149785	6	8856											
MRPS22	56945	broad.mit.edu	37	chr3	139071544	139071544	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tggaaaatatgaccttttacGttcaacaagatactttggtg	13	14	8	6	1	1	2	1	1	0	1	1	3	1	3	1	2	3	1	1	2	7	6			TCGA-G9-A9S4-01A-11D-A41K-08	TCGA-G9-A9S4-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d36ef053-e634-4711-9ee4-dac20b166856	3aac36e8-fe99-4218-9fb8-dba6dd6ea066	g.chr3:139071544G>A	ENST00000495075.1	+	8	1220	c.788G>A	c.(787-789)cGt>cAt	p.R263H	MRPS22_ENST00000310776.4_Missense_Mutation_p.R263H|MRPS22_ENST00000465056.1_Missense_Mutation_p.R262H|MRPS22_ENST00000478464.1_Missense_Mutation_p.R222H			P82650	RT22_HUMAN	mitochondrial ribosomal protein S22	263						mitochondrial ribosome (GO:0005761)|mitochondrial small ribosomal subunit (GO:0005763)|mitochondrion (GO:0005739)	structural constituent of ribosome (GO:0003735)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	12						GACCTTTTACGTTCAACAAGA	0.323																																						ENST00000495075.1																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	12						c.(787-789)cGt>cAt		mitochondrial ribosomal protein S22							156	153	154					3																	139071544		2203	4300	6503	SO:0001583	missense	56945					mitochondrial small ribosomal subunit	protein binding|structural constituent of ribosome	g.chr3:139071544G>A	AF226045	CCDS3107.1	3q23	2012-09-13			ENSG00000175110	ENSG00000175110		"Mitochondrial ribosomal proteins / small subunits"	14508	protein-coding gene	gene with protein product		605810				11175783	Standard	NM_020191		Approved	MRP-S22, GK002, C3orf5, GIBT	uc003etb.3	P82650	OTTHUMG00000159910	ENST00000495075.1:c.788G>A	3.37:g.139071544G>A	ENSP00000418008:p.Arg263His					MRPS22_ENST00000310776.4_Missense_Mutation_p.R263H|MRPS22_ENST00000465056.1_Missense_Mutation_p.R262H|MRPS22_ENST00000478464.1_Missense_Mutation_p.R222H	p.R263H			P82650	RT22_HUMAN			8	1220	+			263					Q9H3I1	Missense_Mutation	SNP	ENST00000495075.1	37	c.788G>A	CCDS3107.1	.	.	.	.	.	.	.	.	.	.	G	34	5.334014	0.95758	.	.	ENSG00000175110	ENST00000495075;ENST00000310776;ENST00000465056;ENST00000478464	D;D;D;D	0.85955	-2.05;-2.05;-2.05;-2.05	5.86	5.86	0.93980	.	0.152780	0.64402	D	0.000018	D	0.85687	0.5754	M	0.76838	2.35	0.80722	D	1	P;P;P	0.43094	0.631;0.761;0.799	B;B;B	0.35770	0.094;0.133;0.21	D	0.87662	0.2535	10	0.66056	D	0.02	-3.6688	19.769	0.96353	0.0:0.0:1.0:0.0	.	222;262;263	G5E9W7;G5E9V5;P82650	.;.;RT22_HUMAN	H	263;263;262;222	ENSP00000418008:R263H;ENSP00000310785:R263H;ENSP00000418233:R262H;ENSP00000419303:R222H	ENSP00000310785:R263H	R	+	2	0	MRPS22	140554234	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	8.966000	0.93397	2.773000	0.95371	0.655000	0.94253	CGT		0.323	MRPS22-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000358120.1	NM_020191		4	50	0	0	0	1	0	4	50					A	139071544	G	A	139071544	3	1	190	1	0	0	0	0	1	0	0	0	9833	1145	40	1	810	1	MRPS22	3	139071544	Missense_Mutation	SNP	G	TCGA-G9-A9S4-01A-11D-A41K-08	102198899	139071544	58950886	7	8857											
HADH	3033	broad.mit.edu	37	chr4	108954337	108954337	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccgttttctccttaggtgacGcatccaaagaagacattgac	11	11	8	11	2	1	4	0	2	1	2	3	4	2	4	3	1	0	2	3	1	3	4			TCGA-G9-A9S4-01A-11D-A41K-08	TCGA-G9-A9S4-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d36ef053-e634-4711-9ee4-dac20b166856	3aac36e8-fe99-4218-9fb8-dba6dd6ea066	g.chr4:108954337G>A	ENST00000309522.3	+	7	864	c.715G>A	c.(715-717)Gca>Aca	p.A239T	HADH_ENST00000510728.1_3'UTR|HADH_ENST00000403312.1_Missense_Mutation_p.A315T|HADH_ENST00000603302.1_Missense_Mutation_p.A256T|HADH_ENST00000454409.2_Missense_Mutation_p.A243T|HADH_ENST00000505878.1_Missense_Mutation_p.A243T	NM_005327.4	NP_005318	P40939	ECHA_HUMAN	hydroxyacyl-CoA dehydrogenase	568					cardiolipin acyl-chain remodeling (GO:0035965)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|glycerophospholipid biosynthetic process (GO:0046474)|phospholipid metabolic process (GO:0006644)|response to drug (GO:0042493)|response to insulin (GO:0032868)|small molecule metabolic process (GO:0044281)	mitochondrial fatty acid beta-oxidation multienzyme complex (GO:0016507)|mitochondrial inner membrane (GO:0005743)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	3-hydroxyacyl-CoA dehydrogenase activity (GO:0003857)|acetyl-CoA C-acetyltransferase activity (GO:0003985)|enoyl-CoA hydratase activity (GO:0004300)|fatty-acyl-CoA binding (GO:0000062)|long-chain-3-hydroxyacyl-CoA dehydrogenase activity (GO:0016509)|long-chain-enoyl-CoA hydratase activity (GO:0016508)|NAD binding (GO:0051287)	p.A239T(1)		endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	15		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000168)		CTTAGGTGACGCATCCAAAGA	0.453																																						ENST00000505878.1																			1	Substitution - Missense(1)	p.A239T(1)	large_intestine(1)	endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	15						c.(727-729)Gca>Aca		hydroxyacyl-CoA dehydrogenase	NADH(DB00157)						133	128	130					4																	108954337		2203	4300	6503	SO:0001583	missense	3033				fatty acid beta-oxidation	mitochondrial matrix	3-hydroxyacyl-CoA dehydrogenase activity|NAD+ binding	g.chr4:108954337G>A	X96752	CCDS3678.1, CCDS54790.1	4q22-q26	2012-10-02	2010-04-30		ENSG00000138796	ENSG00000138796	1.1.1.35		4799	protein-coding gene	gene with protein product		601609	"L-3-hydroxyacyl-Coenzyme A dehydrogenase, short chain", "hydroxyacyl-Coenzyme A dehydrogenase"	HADHSC		975867, 16176262	Standard	NM_001184705		Approved	HADH1, SCHAD	uc010ilx.3	Q16836	OTTHUMG00000131810	ENST00000309522.3:c.715G>A	4.37:g.108954337G>A	ENSP00000312288:p.Ala239Thr					HADH_ENST00000309522.3_Missense_Mutation_p.A239T|HADH_ENST00000603302.1_Missense_Mutation_p.A256T|HADH_ENST00000403312.1_Missense_Mutation_p.A315T|HADH_ENST00000454409.2_Missense_Mutation_p.A243T|HADH_ENST00000510728.1_3'UTR	p.A243T			Q16836	HCDH_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000168)	8	1000	+		Hepatocellular(203;0.217)	239					B2R7L4|B4DYP2|Q16679|Q53T69|Q53TA2|Q96GT7|Q9UQC5	Missense_Mutation	SNP	ENST00000309522.3	37	c.727G>A	CCDS3678.1	.	.	.	.	.	.	.	.	.	.	G	37	6.288592	0.97444	.	.	ENSG00000138796	ENST00000403312;ENST00000309522;ENST00000505878;ENST00000454409	D;D;D	0.91843	-2.92;-2.92;-2.92	5.86	5.86	0.93980	3-hydroxyacyl-CoA dehydrogenase, C-terminal (1);Dehydrogenase, multihelical (1);6-phosphogluconate dehydrogenase, C-terminal-like (1);	0.050814	0.85682	D	0.000000	D	0.97043	0.9034	M	0.91196	3.185	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.76575	0.986;0.988;0.98	D	0.97420	1.0008	10	0.87932	D	0	-25.3859	18.9646	0.92691	0.0:0.0:1.0:0.0	.	315;243;239	Q16836-2;E9PF18;Q16836	.;.;HCDH_HUMAN	T	256;239;243;243	ENSP00000312288:A239T;ENSP00000425952:A243T;ENSP00000395167:A243T	ENSP00000312288:A239T	A	+	1	0	HADH	109173786	1.000000	0.71417	0.296000	0.24974	0.626000	0.37791	7.718000	0.84743	2.771000	0.95319	0.563000	0.77884	GCA		0.453	HADH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254750.2	NM_005327		33	37	0	0	0	1	0	33	37					A	108954337	G	A	108954337	3	1	190	1	0	0	0	0	1	0	0	0	6942	1087	38	1	796	1	HADH	4	108954337	Missense_Mutation	SNP	G	TCGA-G9-A9S4-01A-11D-A41K-08		108954337	82199939	8	8858											
PCDHB2	56133	broad.mit.edu	37	chr5	140475698	140475698	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccgagcacaacataaccgtgCtggtctccgacgtcaatgac	11	7	9	14	4	2	1	1	1	1	0	3	3	2	1	3	1	4	2	3	1	3	1			TCGA-G9-A9S4-01A-11D-A41K-08	TCGA-G9-A9S4-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d36ef053-e634-4711-9ee4-dac20b166856	3aac36e8-fe99-4218-9fb8-dba6dd6ea066	g.chr5:140475698C>A	ENST00000194155.4	+	1	1472	c.1324C>A	c.(1324-1326)Ctg>Atg	p.L442M		NM_018936.2	NP_061759.1	Q9Y5E7	PCDB2_HUMAN	protocadherin beta 2	442	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CATAACCGTGCTGGTCTCCGA	0.607																																						ENST00000194155.4																			0				NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	71						c.(1324-1326)Ctg>Atg									149	138	142					5																	140475698		2203	4300	6503	SO:0001583	missense	0				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	g.chr5:140475698C>A	AF152495	CCDS4244.1	5q31	2010-01-26			ENSG00000112852	ENSG00000112852		"Cadherins / Protocadherins : Clustered"	8687	other	protocadherin		606328				10380929	Standard	NM_018936		Approved	PCDH-BETA2	uc003lil.3	Q9Y5E7	OTTHUMG00000129606	ENST00000194155.4:c.1324C>A	5.37:g.140475698C>A	ENSP00000194155:p.Leu442Met						p.L442M	NM_018936.2	NP_061759.1	Q9Y5E7	PCDB2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1472	+			442			Cadherin 4.		Q4KMU1	Missense_Mutation	SNP	ENST00000194155.4	37	c.1324C>A	CCDS4244.1	.	.	.	.	.	.	.	.	.	.	C	4.072	0.011160	0.07912	.	.	ENSG00000112852	ENST00000194155	T	0.01787	4.64	5.11	-0.624	0.11552	Cadherin (4);Cadherin conserved site (1);Cadherin-like (1);	.	.	.	.	T	0.03520	0.0101	L	0.58669	1.825	0.09310	N	1	P	0.45902	0.868	P	0.53266	0.722	T	0.38373	-0.9664	9	0.38643	T	0.18	.	1.7076	0.02885	0.3052:0.3825:0.1002:0.2122	.	442	Q9Y5E7	PCDB2_HUMAN	M	442	ENSP00000194155:L442M	ENSP00000194155:L442M	L	+	1	2	PCDHB2	140455882	0.000000	0.05858	0.000000	0.03702	0.039000	0.13416	-1.827000	0.01704	-0.088000	0.12506	0.650000	0.86243	CTG		0.607	PCDHB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251801.2	NM_018936		4	158	1	0	1	1	1	4	158					A	140475698	C	A	140475698	3	1	190	1	0	0	0	0	1	0	0	0	11542	796	28	5	1326	5	PCDHB2	5	140475698	Missense_Mutation	SNP	C	TCGA-G9-A9S4-01A-11D-A41K-08		140475698	40439562	9	8859											
SPARC	6678	broad.mit.edu	37	chr5	151045995	151045995	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtacatgttatagttcttctCgaagtcccgggccagcagct	8	12	10	11	2	2	0	0	0	2	0	4	1	3	0	2	1	3	5	2	1	4	5	rs373654699		TCGA-G9-A9S4-01A-11D-A41K-08	TCGA-G9-A9S4-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d36ef053-e634-4711-9ee4-dac20b166856	3aac36e8-fe99-4218-9fb8-dba6dd6ea066	g.chr5:151045995C>T	ENST00000231061.4	-	8	974	c.661G>A	c.(661-663)Gag>Aag	p.E221K	SPARC_ENST00000537849.1_5'UTR	NM_003118.3	NP_003109.1	P09486	SPRC_HUMAN	secreted protein, acidic, cysteine-rich (osteonectin)	221					blood coagulation (GO:0007596)|bone development (GO:0060348)|cellular response to growth factor stimulus (GO:0071363)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|inner ear development (GO:0048839)|lung development (GO:0030324)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endothelial cell proliferation (GO:0001937)|ossification (GO:0001503)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of endothelial cell migration (GO:0010595)|regulation of cell morphogenesis (GO:0022604)|response to cadmium ion (GO:0046686)|response to calcium ion (GO:0051592)|response to cAMP (GO:0051591)|response to cytokine (GO:0034097)|response to ethanol (GO:0045471)|response to glucocorticoid (GO:0051384)|response to gravity (GO:0009629)|response to L-ascorbic acid (GO:0033591)|response to lead ion (GO:0010288)|response to lipopolysaccharide (GO:0032496)|response to peptide hormone (GO:0043434)|signal transduction (GO:0007165)	basement membrane (GO:0005604)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endocytic vesicle lumen (GO:0071682)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|nuclear matrix (GO:0016363)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|platelet alpha granule membrane (GO:0031092)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|extracellular matrix binding (GO:0050840)	p.E221K(1)		central_nervous_system(3)|large_intestine(5)|lung(5)|ovary(1)|urinary_tract(1)	15		Medulloblastoma(196;0.109)|all_hematologic(541;0.122)	Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)	OV - Ovarian serous cystadenocarcinoma(192;0.00118)		TAGTTCTTCTCGAAGTCCCGG	0.557																																						ENST00000231061.4																			1	Substitution - Missense(1)	p.E221K(1)	large_intestine(1)	central_nervous_system(3)|large_intestine(5)|lung(5)|ovary(1)|urinary_tract(1)	15						c.(661-663)Gag>Aag		secreted protein, acidic, cysteine-rich (osteonectin)	Becaplermin(DB00102)						77	71	73					5																	151045995		2203	4300	6503	SO:0001583	missense	6678				ossification|platelet activation|platelet degranulation|signal transduction	basement membrane|extracellular space|platelet alpha granule lumen	calcium ion binding|collagen binding	g.chr5:151045995C>T		CCDS4318.1	5q31-q33	2012-10-02			ENSG00000113140	ENSG00000113140			11219	protein-coding gene	gene with protein product	"cysteine-rich protein", "osteonectin"	182120		ON		2838412, 3410046	Standard	NM_003118		Approved		uc003lui.4	P09486	OTTHUMG00000130122	ENST00000231061.4:c.661G>A	5.37:g.151045995C>T	ENSP00000231061:p.Glu221Lys					SPARC_ENST00000537849.1_5'UTR	p.E221K	NM_003118.3	NP_003109.1	P09486	SPRC_HUMAN	Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)	OV - Ovarian serous cystadenocarcinoma(192;0.00118)	8	974	-		Medulloblastoma(196;0.109)|all_hematologic(541;0.122)	221					D3DQH9|Q6IBK4	Missense_Mutation	SNP	ENST00000231061.4	37	c.661G>A	CCDS4318.1	.	.	.	.	.	.	.	.	.	.	C	14.06	2.423847	0.43020	.	.	ENSG00000113140	ENST00000231061;ENST00000538026	T	0.25085	1.82	5.64	3.82	0.43975	SPARC/Testican, calcium-binding domain (1);EF-hand-like domain (1);	0.144593	0.64402	D	0.000008	T	0.22437	0.0541	L	0.45137	1.4	0.53688	D	0.999973	B	0.15719	0.014	B	0.06405	0.002	T	0.03641	-1.1017	10	0.14656	T	0.56	-22.7082	16.1145	0.81295	0.0:0.7493:0.2507:0.0	.	221	P09486	SPRC_HUMAN	K	221;130	ENSP00000231061:E221K	ENSP00000231061:E221K	E	-	1	0	SPARC	151026188	0.997000	0.39634	0.942000	0.38095	0.990000	0.78478	3.549000	0.53681	0.701000	0.31803	0.655000	0.94253	GAG		0.557	SPARC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252430.1	NM_003118		5	49	0	0	0	1	0	5	49					T	151045995	C	T	151045995	3	4	190	1	0	0	0	0	1	0	0	0	14994	893	31	2	262	2	SPARC	5	151045995	Missense_Mutation	SNP	C	TCGA-G9-A9S4-01A-11D-A41K-08	10570297	151045995	29869265	10	8860											
HDAC9	9734	broad.mit.edu	37	chr7	18875186	18875186	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	atgatgaagggaactttttcCctggcagtggagccccaaat	11	10	11	9	0	0	2	0	2	0	0	1	4	1	4	3	3	2	1	3	3	3	2			TCGA-G9-A9S4-01A-11D-A41K-08	TCGA-G9-A9S4-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d36ef053-e634-4711-9ee4-dac20b166856	3aac36e8-fe99-4218-9fb8-dba6dd6ea066	g.chr7:18875186C>T	ENST00000432645.2	+	19	2554	c.2554C>T	c.(2554-2556)Cct>Tct	p.P852S	HDAC9_ENST00000441542.2_Missense_Mutation_p.P855S|HDAC9_ENST00000401921.1_Missense_Mutation_p.P811S|HDAC9_ENST00000406451.4_Missense_Mutation_p.P852S	NM_058176.2	NP_478056.1	Q9UKV0	HDAC9_HUMAN	histone deacetylase 9	852	Histone deacetylase.				B cell activation (GO:0042113)|B cell differentiation (GO:0030183)|cellular response to insulin stimulus (GO:0032869)|heart development (GO:0007507)|histone deacetylation (GO:0016575)|histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|inflammatory response (GO:0006954)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|peptidyl-lysine deacetylation (GO:0034983)|positive regulation of cell migration involved in sprouting angiogenesis (GO:0090050)|regulation of skeletal muscle fiber development (GO:0048742)|regulation of striated muscle cell differentiation (GO:0051153)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|histone deacetylase complex (GO:0000118)|histone methyltransferase complex (GO:0035097)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|protein deacetylase activity (GO:0033558)|protein kinase C binding (GO:0005080)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82	all_lung(11;0.187)				Valproic Acid(DB00313)	GAACTTTTTCCCTGGCAGTGG	0.443																																						ENST00000406451.3																			0				breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82						c.(2554-2556)Cct>Tct		histone deacetylase 9	Valproic Acid(DB00313)						71	72	72					7																	18875186		2045	4238	6283	SO:0001583	missense	9734				B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex	histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity	g.chr7:18875186C>T	AF124924	CCDS47553.1, CCDS47554.1, CCDS47555.1, CCDS47557.1, CCDS56465.1, CCDS56466.1, CCDS56467.1, CCDS56468.1, CCDS75565.1	7p21.1	2008-05-15			ENSG00000048052	ENSG00000048052			14065	protein-coding gene	gene with protein product		606543				10523670, 10487760	Standard	NM_178425		Approved	KIAA0744, HDAC, MITR, HD7, HDAC7B	uc003sui.3	Q9UKV0	OTTHUMG00000152487	ENST00000432645.2:c.2554C>T	7.37:g.18875186C>T	ENSP00000410337:p.Pro852Ser					HDAC9_ENST00000401921.1_Missense_Mutation_p.P811S|HDAC9_ENST00000441542.2_Missense_Mutation_p.P855S|HDAC9_ENST00000432645.2_Missense_Mutation_p.P852S	p.P852S	NM_178423.1|NM_178425.2	NP_848510.1|NP_848512.1	Q9UKV0	HDAC9_HUMAN			20	2704	+	all_lung(11;0.187)		852			Histone deacetylase.		A7E2F3|B7Z4I4|B7Z917|B7Z928|B7Z940|C9JS87|E7EX34|F8W9E0|O94845|O95028|Q2M2R6|Q86SL1|Q86US3	Missense_Mutation	SNP	ENST00000432645.2	37	c.2554C>T	CCDS47555.1	.	.	.	.	.	.	.	.	.	.	C	17.86	3.493053	0.64186	.	.	ENSG00000048052	ENST00000406451;ENST00000401921;ENST00000432645;ENST00000441542;ENST00000341009	D;D;D;D	0.87029	-2.2;-2.2;-2.2;-2.2	5.72	5.72	0.89469	Histone deacetylase domain (2);	0.000000	0.56097	D	0.000032	D	0.96658	0.8909	H	0.98833	4.345	0.80722	D	1	D;D;P;P;P;P	0.89917	1.0;1.0;0.601;0.601;0.689;0.601	D;D;B;B;B;B	0.91635	0.999;0.993;0.166;0.166;0.237;0.166	D	0.98055	1.0390	10	0.87932	D	0	-20.6606	18.8634	0.92281	0.0:1.0:0.0:0.0	.	852;100;811;855;852;852	Q9UKV0-4;Q8N926;Q9UKV0-6;Q9UKV0-7;Q9UKV0;Q9UKV0-5	.;.;.;.;HDAC9_HUMAN;.	S	852;811;852;855;764	ENSP00000384657:P852S;ENSP00000383912:P811S;ENSP00000410337:P852S;ENSP00000408617:P855S	ENSP00000339165:P764S	P	+	1	0	HDAC9	18841711	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.525000	0.81892	2.711000	0.92665	0.655000	0.94253	CCT		0.443	HDAC9-023	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000376176.1			15	21	0	0	0	1	0	15	21					T	18875186	C	T	18875186	3	4	190	1	0	0	0	0	1	0	0	0	7014	623	22	3	2688	3	HDAC9	7	18875186	Missense_Mutation	SNP	C	TCGA-G9-A9S4-01A-11D-A41K-08		18875186	140263477	11	8861											
FAM82B	51115	broad.mit.edu	37	chr8	87486552	87486552	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agttctcaattcttctcactGaaacttgtaagcaactgagc	12	13	6	10	0	3	2	2	2	3	0	5	2	3	2	0	0	4	3	0	0	4	5	rs150282224		TCGA-G9-A9S4-01A-11D-A41K-08	TCGA-G9-A9S4-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d36ef053-e634-4711-9ee4-dac20b166856	3aac36e8-fe99-4218-9fb8-dba6dd6ea066	g.chr8:87486552G>A	ENST00000406452.3	-	10	1089	c.930C>T	c.(928-930)ttC>ttT	p.F310F	RMDN1_ENST00000523911.1_Intron|RMDN1_ENST00000430676.2_Silent_p.F280F|RMDN1_ENST00000519966.1_Silent_p.F267F	NM_016033.2	NP_057117.2	Q96DB5	RMD1_HUMAN	regulator of microtubule dynamics 1	310						microtubule (GO:0005874)|mitochondrion (GO:0005739)											TCTTCTCACTGAAACTTGTAA	0.289																																						ENST00000406452.3																			0											c.(928-930)ttC>ttT		regulator of microtubule dynamics 1							65	71	69					8																	87486552		2202	4292	6494	SO:0001819	synonymous_variant	51115							g.chr8:87486552G>A	AK000672	CCDS34918.1, CCDS69509.1, CCDS69510.1	8q21.3	2013-01-11	2013-01-11	2013-01-11	ENSG00000176623	ENSG00000176623			24285	protein-coding gene	gene with protein product		611871	"family with sequence similarity 82, member B"	FAM82B		10810093	Standard	NM_016033		Approved	CGI-90, FLJ20665, RMD1	uc003ydu.3	Q96DB5	OTTHUMG00000163692	ENST00000406452.3:c.930C>T	8.37:g.87486552G>A						RMDN1_ENST00000430676.2_Silent_p.F280F|RMDN1_ENST00000519966.1_Silent_p.F267F|RMDN1_ENST00000523911.1_Intron	p.F310F	NM_016033.2	NP_057117.2					10	1089	-								A9UMZ8|B4DNF5|B4DZW6|B5MC61|C9JSC6|E7EVI2|Q9Y398	Silent	SNP	ENST00000406452.3	37	c.930C>T	CCDS34918.1																																																																																				0.289	RMDN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374770.2	NM_016033		66	33	0	0	0	1	0	66	33					A	87486552	G	A	87486552	2	1	190	1	0	0	0	0	0	0	0	1	5632	1281	45	3		3	FAM82B	8	87486552	Silent	SNP	G	TCGA-G9-A9S4-01A-11D-A41K-08		87486552	58877470	12	8862											
INTS8	55656	broad.mit.edu	37	chr8	95844240	95844240	+	Frame_Shift_Del	DEL	T	T	-																															ctcaaagaacaagctgctgaTtctattttggtactagaagc																										TCGA-G9-A9S4-01A-11D-A41K-08	TCGA-G9-A9S4-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d36ef053-e634-4711-9ee4-dac20b166856	3aac36e8-fe99-4218-9fb8-dba6dd6ea066	g.chr8:95844240delT	ENST00000523731.1	+	6	724	c.591delT	c.(589-591)gatfs	p.D197fs	INTS8_ENST00000447247.1_Frame_Shift_Del_p.D197fs	NM_017864.2	NP_060334.2	Q75QN2	INT8_HUMAN	integrator complex subunit 8	197					snRNA processing (GO:0016180)	integrator complex (GO:0032039)				breast(3)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	28	Breast(36;1.05e-06)					AAGCTGCTGATTCTATTTTGG	0.313																																						ENST00000523731.1																			0				breast(3)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	28						c.(589-591)gafs		integrator complex subunit 8							46	46	46					8																	95844240		2203	4300	6503	SO:0001589	frameshift_variant	55656				snRNA processing	integrator complex	protein binding	g.chr8:95844240delT	AK091278	CCDS34925.1	8q22.1	2007-05-03	2006-03-15	2006-03-15	ENSG00000164941	ENSG00000164941			26048	protein-coding gene	gene with protein product		611351	"chromosome 8 open reading frame 52"	C8orf52		16239144	Standard	NM_017864		Approved	FLJ20530, INT8, MGC131633	uc003yhb.4	Q75QN2	OTTHUMG00000164695	ENST00000523731.1:c.591delT	8.37:g.95844240delT	ENSP00000430338:p.Asp197fs					INTS8_ENST00000447247.1_Frame_Shift_Del_p.D197fs	p.D197fs	NM_017864.2	NP_060334.2	Q75QN2	INT8_HUMAN			6	724	+	Breast(36;1.05e-06)		197					B2RN92|Q5RKZ3|Q6P1R5|Q7Z314|Q9NVS6|Q9NWY7	Frame_Shift_Del	DEL	ENST00000523731.1	37	c.591delT	CCDS34925.1																																																																																				0.313	INTS8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379794.1	NM_017864		47	32						47	32	---	---	---	---	-	95844240	T	-	95844240	7	5	190	1	0	1	0	1	0	0	0	0	7784	1490	52	0	613	0	INTS8	8	95844240	Frame_Shift_Del	DEL	T	TCGA-G9-A9S4-01A-11D-A41K-08	8357688	95844240	50519782	13	8863											
KCNV1	27012	broad.mit.edu	37	chr8	110984838	110984838	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacgaagataatggagatgaCgccaaagatacgggcagctg	15	5	13	8	3	0	4	0	1	0	3	0	6	0	4	1	2	2	2	1	2	4	2			TCGA-G9-A9S4-01A-11D-A41K-08	TCGA-G9-A9S4-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d36ef053-e634-4711-9ee4-dac20b166856	3aac36e8-fe99-4218-9fb8-dba6dd6ea066	g.chr8:110984838C>T	ENST00000524391.1	-	3	1672	c.640G>A	c.(640-642)Gtc>Atc	p.V214I	RP11-696P8.2_ENST00000530667.1_RNA|KCNV1_ENST00000297404.1_Missense_Mutation_p.V214I			Q6PIU1	KCNV1_HUMAN	potassium channel, subfamily V, member 1	214					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|ion channel inhibitor activity (GO:0008200)|potassium channel regulator activity (GO:0015459)	p.V214I(1)		breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(20)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	all_neural(195;0.219)		OV - Ovarian serous cystadenocarcinoma(57;5.35e-13)			ATGGAGATGACGCCAAAGATA	0.517																																						ENST00000524391.1																			1	Substitution - Missense(1)	p.V214I(1)	haematopoietic_and_lymphoid_tissue(1)	breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(20)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						c.(640-642)Gtc>Atc		potassium channel, subfamily V, member 1							92	84	87					8																	110984838		2203	4300	6503	SO:0001583	missense	27012					voltage-gated potassium channel complex	ion channel inhibitor activity|potassium channel regulator activity|voltage-gated potassium channel activity	g.chr8:110984838C>T	AF167082	CCDS6314.1	8q23.2	2011-07-05				ENSG00000164794		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	18861	protein-coding gene	gene with protein product		608164				8670833, 16382104	Standard	NM_014379		Approved	Kv8.1	uc003ynr.4	Q6PIU1		ENST00000524391.1:c.640G>A	8.37:g.110984838C>T	ENSP00000435954:p.Val214Ile					KCNV1_ENST00000297404.1_Missense_Mutation_p.V214I	p.V214I			Q6PIU1	KCNV1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;5.35e-13)		3	1672	-	all_neural(195;0.219)		214					Q9UHJ4	Missense_Mutation	SNP	ENST00000524391.1	37	c.640G>A	CCDS6314.1	.	.	.	.	.	.	.	.	.	.	C	0.164	-1.078020	0.01903	.	.	ENSG00000164794	ENST00000524391;ENST00000297404;ENST00000545728	D;D	0.97328	-4.34;-4.34	5.35	4.35	0.52113	.	0.306903	0.28109	N	0.016564	D	0.88566	0.6471	N	0.12569	0.235	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.75539	-0.3282	10	0.02654	T	1	.	3.8825	0.09083	0.0:0.6825:0.0:0.3175	.	214	Q6PIU1	KCNV1_HUMAN	I	214;214;90	ENSP00000435954:V214I;ENSP00000297404:V214I	ENSP00000297404:V214I	V	-	1	0	KCNV1	111054014	0.994000	0.37717	0.994000	0.49952	0.610000	0.37248	2.694000	0.47035	2.499000	0.84300	0.557000	0.71058	GTC		0.517	KCNV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385525.1	NM_014379		31	24	0	0	0	1	0	31	24					T	110984838	C	T	110984838	3	4	190	1	0	0	0	0	1	0	0	0	8094	536	19	1	870	1	KCNV1	8	110984838	Missense_Mutation	SNP	C	TCGA-G9-A9S4-01A-11D-A41K-08	15140598	110984838	35379184	14	8864											
CERCAM	51148	broad.mit.edu	37	chr9	131196779	131196779	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gctgggtactcctactggacGctggcctatgccctgcgtct	4	11	12	14	2	1	0	0	0	1	0	2	1	2	1	3	3	4	3	3	3	3	3			TCGA-G9-A9S4-01A-11D-A41K-08	TCGA-G9-A9S4-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d36ef053-e634-4711-9ee4-dac20b166856	3aac36e8-fe99-4218-9fb8-dba6dd6ea066	g.chr9:131196779G>A	ENST00000372838.4	+	11	1820	c.1422G>A	c.(1420-1422)acG>acA	p.T474T	RP11-339B21.10_ENST00000610052.1_RNA|CERCAM_ENST00000372842.1_Silent_p.T396T	NM_016174.4	NP_057258.3	Q5T4B2	GT253_HUMAN	cerebral endothelial cell adhesion molecule	474					cell adhesion (GO:0007155)|cellular component movement (GO:0006928)|leukocyte cell-cell adhesion (GO:0007159)|lipopolysaccharide biosynthetic process (GO:0009103)	endoplasmic reticulum (GO:0005783)|plasma membrane (GO:0005886)				endometrium(2)|kidney(4)|large_intestine(2)|lung(9)|ovary(1)|pancreas(2)	20						CCTACTGGACGCTGGCCTATG	0.662																																						ENST00000372842.1																			0				endometrium(2)|kidney(4)|large_intestine(2)|lung(9)|ovary(1)|pancreas(2)	20						c.(1186-1188)acG>acA		cerebral endothelial cell adhesion molecule							49	50	50					9																	131196779		2203	4300	6503	SO:0001819	synonymous_variant	51148				cellular component movement|leukocyte cell-cell adhesion|lipopolysaccharide biosynthetic process	endoplasmic reticulum lumen|plasma membrane		g.chr9:131196779G>A	AB040935	CCDS6901.2, CCDS69675.1	9q34.13	2008-02-05	2007-10-17	2007-10-17	ENSG00000167123	ENSG00000167123			23723	protein-coding gene	gene with protein product	"glycosyltransferase 25 domain containing 3"		"cerebral cell adhesion molecule"	CEECAM1		10608765	Standard	NM_016174		Approved	GLT25D3, CerCAM	uc004buz.4	Q5T4B2	OTTHUMG00000020747	ENST00000372838.4:c.1422G>A	9.37:g.131196779G>A						CERCAM_ENST00000372838.4_Silent_p.T474T	p.T396T			Q5T4B2	GT253_HUMAN			12	4332	+			474					A7MD00|C4AMA2|Q0VDF3|Q2VPJ4|Q4KMP2|Q5T4B1|Q8N107|Q96EZ5|Q9P226|Q9UMW5	Silent	SNP	ENST00000372838.4	37	c.1188G>A	CCDS6901.2																																																																																				0.662	CERCAM-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054435.2	NM_016174		24	32	0	0	0	1	0	24	32					A	131196779	G	A	131196779	2	1	190	1	0	0	0	0	0	0	0	1	3266	1074	38	1		1	CERCAM	9	131196779	Silent	SNP	G	TCGA-G9-A9S4-01A-11D-A41K-08		131196779	10016652	15	8865											
SORCS1	114815	broad.mit.edu	37	chr10	108427560	108427560	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgtcgctcataaccatagtcGctgttaggaaagagccgaga	12	9	11	9	3	1	2	1	0	0	2	3	4	1	3	2	1	2	3	2	1	4	3	rs539985772	byFrequency	TCGA-G9-A9S4-01A-11D-A41K-08	TCGA-G9-A9S4-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d36ef053-e634-4711-9ee4-dac20b166856	3aac36e8-fe99-4218-9fb8-dba6dd6ea066	g.chr10:108427560G>A	ENST00000263054.6	-	17	2197	c.2190C>T	c.(2188-2190)tgC>tgT	p.C730C	SORCS1_ENST00000344440.6_Splice_Site_p.C730C|SORCS1_ENST00000369698.1_Splice_Site_p.C265C	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN	sortilin-related VPS10 domain containing receptor 1	730					neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	neuropeptide receptor activity (GO:0008188)			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		AACCATAGTCGCTGTTAGGAA	0.453													G|||	2	0.000399361	0	0	5008	,	,		17265	0		0	False		,,,				2504	0.002					ENST00000263054.6																			0				breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127						c.e17-1		sortilin-related VPS10 domain containing receptor 1							55	50	51					10																	108427560		2203	4300	6503	SO:0001630	splice_region_variant	114815					integral to membrane	neuropeptide receptor activity|protein binding	g.chr10:108427560G>A	AF284756	CCDS7559.1	10q23-q25	2004-04-20			ENSG00000108018	ENSG00000108018			16697	protein-coding gene	gene with protein product		606283				11499680	Standard	NM_001206570		Approved	sorCS1	uc001kyl.3	Q8WY21	OTTHUMG00000019018	ENST00000263054.6:c.2190-1C>T	10.37:g.108427560G>A						SORCS1_ENST00000344440.6_Splice_Site_p.C730_splice|SORCS1_ENST00000369698.1_Splice_Site_p.C265_splice	p.C730_splice	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN		Epithelial(162;1.66e-05)|all cancers(201;0.000689)	17	2197	-		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)	730					A2RRF4|Q59GG7|Q5JVT7|Q5JVT8|Q5VY14|Q86WQ1|Q86WQ2|Q9H1Y1|Q9H1Y2	Splice_Site	SNP	ENST00000263054.6	37	c.2189_splice	CCDS7559.1																																																																																				0.453	SORCS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050232.4	NM_052918	Silent	7	21	0	0	0	1	0	7	21					A	108427560	G	A	108427560	5	1	190	1	0	0	0	0	0	0	1	0	14930	1101	38	1	1590	1	SORCS1	10	108427560	Splice_Site	SNP	G	TCGA-G9-A9S4-01A-11D-A41K-08		108427560	27107187	16	8866											
OR4A16	81327	broad.mit.edu	37	chr11	55111560	55111560	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acaatcagagatgaaaaatgCtatgaaaaatctctggtgtg	17	10	9	5	0	2	3	1	2	1	1	3	4	2	3	0	1	1	1	0	1	6	1			TCGA-G9-A9S4-01A-11D-A41K-08	TCGA-G9-A9S4-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d36ef053-e634-4711-9ee4-dac20b166856	3aac36e8-fe99-4218-9fb8-dba6dd6ea066	g.chr11:55111560C>T	ENST00000314721.2	+	1	934	c.884C>T	c.(883-885)gCt>gTt	p.A295V		NM_001005274.1	NP_001005274.1	Q8NH70	O4A16_HUMAN	olfactory receptor, family 4, subfamily A, member 16	295						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	51						ATGAAAAATGCTATGAAAAAT	0.318																																						ENST00000314721.2																			0				NS(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	51						c.(883-885)gCt>gTt		olfactory receptor, family 4, subfamily A, member 16							43	43	43					11																	55111560		2201	4295	6496	SO:0001583	missense	81327				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55111560C>T	AB065519	CCDS31499.1	11q11	2012-08-09			ENSG00000181961	ENSG00000181961		"GPCR / Class A : Olfactory receptors"	15153	protein-coding gene	gene with protein product							Standard	NM_001005274		Approved	OR4A16Q	uc010rie.2	Q8NH70	OTTHUMG00000166710	ENST00000314721.2:c.884C>T	11.37:g.55111560C>T	ENSP00000325128:p.Ala295Val						p.A295V	NM_001005274.1	NP_001005274.1	Q8NH70	O4A16_HUMAN			1	934	+			295					Q6IFL3	Missense_Mutation	SNP	ENST00000314721.2	37	c.884C>T	CCDS31499.1	.	.	.	.	.	.	.	.	.	.	c	9.857	1.195286	0.22037	.	.	ENSG00000181961	ENST00000314721	T	0.44881	0.91	3.02	3.02	0.34903	.	.	.	.	.	T	0.36138	0.0956	L	0.43598	1.365	0.18873	N	0.999985	P	0.35077	0.483	B	0.34242	0.178	T	0.31223	-0.9951	9	0.62326	D	0.03	.	11.7964	0.52102	0.0:1.0:0.0:0.0	.	295	Q8NH70	O4A16_HUMAN	V	295	ENSP00000325128:A295V	ENSP00000325128:A295V	A	+	2	0	OR4A16	54868136	0.000000	0.05858	0.994000	0.49952	0.040000	0.13550	0.567000	0.23608	1.687000	0.51057	0.423000	0.28283	GCT		0.318	OR4A16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391160.1	NM_001005274		14	13	0	0	0	1	0	14	13					T	55111560	C	T	55111560	3	4	190	1	0	0	0	0	1	0	0	0	11041	797	28	3	886	3	OR4A16	11	55111560	Missense_Mutation	SNP	C	TCGA-G9-A9S4-01A-11D-A41K-08		55111560	79894956	17	8867											
OR5D14	219436	broad.mit.edu	37	chr11	55563060	55563060	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggttttaaggaatctgagcaTggagcccacctttgcccttt	8	13	10	10	0	1	1	0	1	1	0	1	3	1	3	3	3	3	2	3	3	2	4			TCGA-G9-A9S4-01A-11D-A41K-08	TCGA-G9-A9S4-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d36ef053-e634-4711-9ee4-dac20b166856	3aac36e8-fe99-4218-9fb8-dba6dd6ea066	g.chr11:55563060T>C	ENST00000335605.1	+	1	29	c.29T>C	c.(28-30)aTg>aCg	p.M10T		NM_001004735.1	NP_001004735.1	Q8NGL3	OR5DE_HUMAN	olfactory receptor, family 5, subfamily D, member 14	10						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(30)|ovary(2)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1)	48		all_epithelial(135;0.196)				AATCTGAGCATGGAGCCCACC	0.403																																						ENST00000335605.1																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(30)|ovary(2)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1)	48						c.(28-30)aTg>aCg		olfactory receptor, family 5, subfamily D, member 14							105	104	104					11																	55563060		2200	4296	6496	SO:0001583	missense	219436				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55563060T>C	AB065779	CCDS31508.1	11q11	2012-08-09			ENSG00000186113	ENSG00000186113		"GPCR / Class A : Olfactory receptors"	15281	protein-coding gene	gene with protein product							Standard	NM_001004735		Approved		uc010rim.2	Q8NGL3	OTTHUMG00000166809	ENST00000335605.1:c.29T>C	11.37:g.55563060T>C	ENSP00000334456:p.Met10Thr						p.M10T	NM_001004735.1	NP_001004735.1	Q8NGL3	OR5DE_HUMAN			1	29	+		all_epithelial(135;0.196)	10					Q6IF69|Q6IFD4|Q96RB5	Missense_Mutation	SNP	ENST00000335605.1	37	c.29T>C	CCDS31508.1	.	.	.	.	.	.	.	.	.	.	t	0.092	-1.165563	0.01673	.	.	ENSG00000186113	ENST00000335605	T	0.19250	2.16	4.54	-0.415	0.12355	.	1.631570	0.03782	N	0.261530	T	0.08714	0.0216	N	0.03917	-0.325	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.27157	-1.0082	10	0.14252	T	0.57	-0.3327	5.0999	0.14754	0.0:0.3757:0.1648:0.4595	.	10	Q8NGL3	OR5DE_HUMAN	T	10	ENSP00000334456:M10T	ENSP00000334456:M10T	M	+	2	0	OR5D14	55319636	0.001000	0.12720	0.001000	0.08648	0.000000	0.00434	0.443000	0.21644	0.008000	0.14787	-0.276000	0.10085	ATG		0.403	OR5D14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391513.1	NM_001004735		51	89	0	0	0	1	0	51	89					C	55563060	T	C	55563060	3	2	190	1	0	0	0	0	1	0	0	0	11155	1464	51	4	31	4	OR5D14	11	55563060	Missense_Mutation	SNP	T	TCGA-G9-A9S4-01A-11D-A41K-08	451500	55563060	79443456	18	8868											
CD3D	915	broad.mit.edu	37	chr11	118209902	118209902	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tgttccgagcccagtttcctCcaaggtggctgtactgagca	7	11	11	12	1	0	1	0	1	0	0	3	2	3	1	4	2	3	5	4	2	2	3			TCGA-G9-A9S4-01A-11D-A41K-08	TCGA-G9-A9S4-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d36ef053-e634-4711-9ee4-dac20b166856	3aac36e8-fe99-4218-9fb8-dba6dd6ea066	g.chr11:118209902C>T	ENST00000300692.4	-	5	627	c.491G>A	c.(490-492)gGa>gAa	p.G164E	CD3D_ENST00000392884.2_Missense_Mutation_p.G120E|CD3D_ENST00000529594.1_Missense_Mutation_p.G91E	NM_000732.4	NP_000723.1	P04234	CD3D_HUMAN	CD3d molecule, delta (CD3-TCR complex)	164	ITAM. {ECO:0000255|PROSITE- ProRule:PRU00379}.				cell surface receptor signaling pathway (GO:0007166)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive thymic T cell selection (GO:0045059)|regulation of immune response (GO:0050776)|T cell costimulation (GO:0031295)|T cell differentiation (GO:0030217)|T cell receptor signaling pathway (GO:0050852)	alpha-beta T cell receptor complex (GO:0042105)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|T cell receptor complex (GO:0042101)	protein heterodimerization activity (GO:0046982)|transcription coactivator activity (GO:0003713)|transmembrane signaling receptor activity (GO:0004888)			large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(2)	9	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.04e-05)	Muromonab(DB00075)	CCAGTTTCCTCCAAGGTGGCT	0.507																																						ENST00000300692.4																			0				large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(2)	9						c.(490-492)gGa>gAa		CD3d molecule, delta (CD3-TCR complex)							119	108	112					11																	118209902		2200	4296	6496	SO:0001583	missense	915				positive thymic T cell selection|T cell costimulation|T cell receptor signaling pathway	cytoplasm|integral to membrane	protein heterodimerization activity	g.chr11:118209902C>T	X01451	CCDS8394.1, CCDS41724.1	11q23	2014-09-17	2006-03-28		ENSG00000167286	ENSG00000167286		"CD molecules"	1673	protein-coding gene	gene with protein product		186790	"CD3d antigen, delta polypeptide (TiT3 complex)"	T3D			Standard	NM_000732		Approved		uc001pss.1	P04234	OTTHUMG00000166970	ENST00000300692.4:c.491G>A	11.37:g.118209902C>T	ENSP00000300692:p.Gly164Glu					CD3D_ENST00000529594.1_Missense_Mutation_p.G91E|CD3D_ENST00000392884.2_Missense_Mutation_p.G120E	p.G164E	NM_000732.4	NP_000723.1	P04234	CD3D_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.04e-05)	5	627	-	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)	164			ITAM.		A8MVP6	Missense_Mutation	SNP	ENST00000300692.4	37	c.491G>A	CCDS8394.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.9|20.9	4.065153|4.065153	0.76187|0.76187	.|.	.|.	ENSG00000167286|ENSG00000167286	ENST00000300692;ENST00000529594;ENST00000392884|ENST00000534687	T;T;T|.	0.45276|.	0.9;0.9;0.9|.	5.4|5.4	5.4|5.4	0.78164|0.78164	.|.	0.503086|.	0.22883|.	N|.	0.054497|.	T|.	0.74291|.	0.3697|.	M|M	0.75447|0.75447	2.3|2.3	0.43203|0.43203	D|D	0.995059|0.995059	D;D|.	0.56746|.	0.977;0.977|.	P;P|.	0.57846|.	0.828;0.666|.	T|.	0.73691|.	-0.3903|.	10|.	0.30854|.	T|.	0.27|.	-15.6718|-15.6718	14.5479|14.5479	0.68044|0.68044	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	120;164|.	A8MVP6;P04234|.	.;CD3D_HUMAN|.	E|X	164;91;120|124	ENSP00000300692:G164E;ENSP00000437335:G91E;ENSP00000376622:G120E|.	ENSP00000300692:G164E|.	G|W	-|-	2|3	0|0	CD3D|CD3D	117715112|117715112	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.968000|0.968000	0.65278|0.65278	2.326000|2.326000	0.43849|0.43849	2.822000|2.822000	0.97130|0.97130	0.650000|0.650000	0.86243|0.86243	GGA|TGG		0.507	CD3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392128.1	NM_000732		27	37	0	0	0	1	0	27	37					T	118209902	C	T	118209902	3	4	190	1	0	0	0	0	1	0	0	0	3010	855	30	3	28	3	CD3D	11	118209902	Missense_Mutation	SNP	C	TCGA-G9-A9S4-01A-11D-A41K-08	62646842	118209902	16796614	19	8869											
KRT6B	3854	broad.mit.edu	37	chr12	52843383	52843383	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatggatagcaccacggatGtgtctgagatgtgggtctgc	8	10	14	9	1	2	1	0	1	2	1	2	4	2	3	2	3	2	1	2	3	1	1			TCGA-G9-A9S4-01A-11D-A41K-08	TCGA-G9-A9S4-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d36ef053-e634-4711-9ee4-dac20b166856	3aac36e8-fe99-4218-9fb8-dba6dd6ea066	g.chr12:52843383G>A	ENST00000252252.3	-	5	994	c.947C>T	c.(946-948)aCa>aTa	p.T316I		NM_005555.3	NP_005546.2	P04259	K2C6B_HUMAN	keratin 6B	316	Linker 12.|Rod.				ectoderm development (GO:0007398)	extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	structural constituent of cytoskeleton (GO:0005200)			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(19)|ovary(4)|prostate(2)	40				BRCA - Breast invasive adenocarcinoma(357;0.083)		CACCACGGATGTGTCTGAGAT	0.522																																						ENST00000252252.3																			0				NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(19)|ovary(4)|prostate(2)	40						c.(946-948)aCa>aTa		keratin 6B							138	124	129					12																	52843383		2203	4297	6500	SO:0001583	missense	3854				ectoderm development	keratin filament	structural constituent of cytoskeleton	g.chr12:52843383G>A	BC034535	CCDS8828.1	12q13.13	2013-01-16	2004-08-11		ENSG00000185479	ENSG00000185479		"-", "Intermediate filaments type II, keratins (basic)"	6444	protein-coding gene	gene with protein product		148042	"keratin-like 1 (a type II keratin sequence)"	KRTL1		1713141, 16831889	Standard	NM_005555		Approved		uc001sak.3	P04259	OTTHUMG00000169593	ENST00000252252.3:c.947C>T	12.37:g.52843383G>A	ENSP00000252252:p.Thr316Ile						p.T316I	NM_005555.3	NP_005546.2	P04259	K2C6B_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.083)	5	994	-			316			Linker 12.|Rod.		P48669	Missense_Mutation	SNP	ENST00000252252.3	37	c.947C>T	CCDS8828.1	.	.	.	.	.	.	.	.	.	.	G	16.23	3.063414	0.55432	.	.	ENSG00000185479	ENST00000252252;ENST00000544607	D	0.89343	-2.5	3.05	1.19	0.21007	Filament (1);	0.000000	0.64402	D	0.000011	D	0.93943	0.8061	M	0.92691	3.335	0.43238	D	0.995141	D	0.54207	0.965	P	0.61722	0.893	D	0.92980	0.6405	10	0.87932	D	0	.	9.2429	0.37506	0.186:0.0:0.814:0.0	.	316	P04259	K2C6B_HUMAN	I	316;276	ENSP00000252252:T316I	ENSP00000252252:T316I	T	-	2	0	KRT6B	51129650	1.000000	0.71417	0.482000	0.27366	0.632000	0.37999	4.317000	0.59184	0.347000	0.23924	0.298000	0.19748	ACA		0.522	KRT6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404969.1	NM_005555		12	101	0	0	0	1	0	12	101					A	52843383	G	A	52843383	3	1	190	1	0	0	0	0	1	0	0	0	8481	1377	48	3	767	3	KRT6B	12	52843383	Missense_Mutation	SNP	G	TCGA-G9-A9S4-01A-11D-A41K-08		52843383	81008512	20	8870											
SOAT2	8435	broad.mit.edu	37	chr12	53499389	53499389	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acagaaagttttcatcatccGcaagtccctgcttgagtaag	12	11	8	10	1	2	2	2	1	0	1	4	2	4	2	2	0	1	4	2	0	3	4			TCGA-G9-A9S4-01A-11D-A41K-08	TCGA-G9-A9S4-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d36ef053-e634-4711-9ee4-dac20b166856	3aac36e8-fe99-4218-9fb8-dba6dd6ea066	g.chr12:53499389G>A	ENST00000301466.3	+	4	380	c.320G>A	c.(319-321)cGc>cAc	p.R107H		NM_003578.3	NP_003569.1	O75908	SOAT2_HUMAN	sterol O-acyltransferase 2	107					cholesterol efflux (GO:0033344)|cholesterol esterification (GO:0034435)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|intestinal cholesterol absorption (GO:0030299)|macrophage derived foam cell differentiation (GO:0010742)|very-low-density lipoprotein particle assembly (GO:0034379)	brush border (GO:0005903)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	cholesterol binding (GO:0015485)|cholesterol O-acyltransferase activity (GO:0034736)|fatty-acyl-CoA binding (GO:0000062)|transferase activity, transferring acyl groups (GO:0016746)			endometrium(5)|kidney(3)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|skin(1)	18					Hesperetin(DB01094)	TTCATCATCCGCAAGTCCCTG	0.507																																						ENST00000301466.3																			0				endometrium(5)|kidney(3)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|skin(1)	18						c.(319-321)cGc>cAc		sterol O-acyltransferase 2							49	46	47					12																	53499389		2203	4300	6503	SO:0001583	missense	8435				cholesterol efflux|cholesterol esterification|cholesterol homeostasis|cholesterol metabolic process|macrophage derived foam cell differentiation|very-low-density lipoprotein particle assembly	brush border|endoplasmic reticulum membrane|integral to membrane|microsome	cholesterol binding|cholesterol O-acyltransferase activity|fatty-acyl-CoA binding	g.chr12:53499389G>A	AF059203	CCDS8847.1	12q13.13	2012-09-20			ENSG00000167780	ENSG00000167780	2.3.1.26		11178	protein-coding gene	gene with protein product		601311				9756920	Standard	NM_003578		Approved	ACAT2	uc001sbv.3	O75908	OTTHUMG00000169774	ENST00000301466.3:c.320G>A	12.37:g.53499389G>A	ENSP00000301466:p.Arg107His						p.R107H	NM_003578.3	NP_003569.1	O75908	SOAT2_HUMAN			4	380	+			107					F5H7W4|I6L9H9|Q4VB99|Q4VBA1|Q96TD4|Q9UNR2	Missense_Mutation	SNP	ENST00000301466.3	37	c.320G>A	CCDS8847.1	.	.	.	.	.	.	.	.	.	.	G	24.0	4.482741	0.84747	.	.	ENSG00000167780	ENST00000301466	T	0.21734	1.99	5.48	5.48	0.80851	.	0.198378	0.40908	D	0.000992	T	0.44371	0.1290	M	0.86028	2.79	0.58432	D	0.999999	D	0.71674	0.998	P	0.57324	0.818	T	0.46898	-0.9158	10	0.66056	D	0.02	-17.2476	12.6162	0.56578	0.0804:0.0:0.9196:0.0	.	107	O75908	SOAT2_HUMAN	H	107	ENSP00000301466:R107H	ENSP00000301466:R107H	R	+	2	0	SOAT2	51785656	1.000000	0.71417	0.933000	0.37362	0.995000	0.86356	4.545000	0.60698	2.755000	0.94549	0.655000	0.94253	CGC		0.507	SOAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405817.1			3	47	0	0	0	1	0	3	47					A	53499389	G	A	53499389	3	1	190	1	0	0	0	0	1	0	0	0	14911	1087	38	1	334	1	SOAT2	12	53499389	Missense_Mutation	SNP	G	TCGA-G9-A9S4-01A-11D-A41K-08	656006	53499389	80352506	21	8871											
AMDHD1	144193	broad.mit.edu	37	chr12	96359480	96359480	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttagactgaaacaacctcgaGccaggaagatgttagatgaa	16	8	10	7	1	0	5	0	2	0	3	1	7	0	6	2	1	3	1	2	1	6	2			TCGA-G9-A9S4-01A-11D-A41K-08	TCGA-G9-A9S4-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d36ef053-e634-4711-9ee4-dac20b166856	3aac36e8-fe99-4218-9fb8-dba6dd6ea066	g.chr12:96359480G>A	ENST00000266736.2	+	7	1061	c.955G>A	c.(955-957)Gcc>Acc	p.A319T		NM_152435.2	NP_689648.2	Q96NU7	HUTI_HUMAN	amidohydrolase domain containing 1	319					cellular nitrogen compound metabolic process (GO:0034641)|histidine catabolic process (GO:0006548)|histidine catabolic process to glutamate and formamide (GO:0019556)|histidine catabolic process to glutamate and formate (GO:0019557)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	imidazolonepropionase activity (GO:0050480)|metal ion binding (GO:0046872)			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|skin(1)	22						ACAACCTCGAGCCAGGAAGAT	0.383																																						ENST00000266736.2																			0				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|skin(1)	22						c.(955-957)Gcc>Acc		amidohydrolase domain containing 1							137	122	127					12																	96359480		2203	4300	6503	SO:0001583	missense	144193				histidine catabolic process to glutamate and formamide	cytosol	imidazolonepropionase activity|metal ion binding	g.chr12:96359480G>A	AB075878	CCDS9057.1	12q23.1	2006-02-02				ENSG00000139344			28577	protein-coding gene	gene with protein product							Standard	NM_152435		Approved	MGC35366	uc001tel.2	Q96NU7	OTTHUMG00000170353	ENST00000266736.2:c.955G>A	12.37:g.96359480G>A	ENSP00000266736:p.Ala319Thr						p.A319T	NM_152435.2	NP_689648.2	Q96NU7	HUTI_HUMAN			7	1061	+			319					A8K463|Q68CI8	Missense_Mutation	SNP	ENST00000266736.2	37	c.955G>A	CCDS9057.1	.	.	.	.	.	.	.	.	.	.	G	35	5.466185	0.96257	.	.	ENSG00000139344	ENST00000266736	T	0.71817	-0.6	6.06	6.06	0.98353	Amidohydrolase 3 (1);Metal-dependent hydrolase, composite domain (1);	0.000000	0.85682	D	0.000000	D	0.88388	0.6423	M	0.90977	3.165	0.80722	D	1	D	0.89917	1.0	D	0.77004	0.989	D	0.89270	0.3604	10	0.66056	D	0.02	-2.7848	20.6208	0.99490	0.0:0.0:1.0:0.0	.	319	Q96NU7	HUTI_HUMAN	T	319	ENSP00000266736:A319T	ENSP00000266736:A319T	A	+	1	0	AMDHD1	94883611	1.000000	0.71417	0.992000	0.48379	0.971000	0.66376	9.074000	0.93998	2.882000	0.98803	0.655000	0.94253	GCC		0.383	AMDHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408640.1	NM_152435		27	48	0	0	0	1	0	27	48					A	96359480	G	A	96359480	3	1	190	1	0	0	0	0	1	0	0	0	567	971	34	3	981	3	AMDHD1	12	96359480	Missense_Mutation	SNP	G	TCGA-G9-A9S4-01A-11D-A41K-08	42860091	96359480	37492415	22	8872											
P2RX4	5025	broad.mit.edu	37	chr12	121647993	121647993	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggctgctgcgccgcgctggCggccttcctgttcgagtacg	2	9	16	14	6	0	0	0	0	0	0	2	1	1	0	3	3	3	5	3	3	1	3			TCGA-G9-A9S4-01A-11D-A41K-08	TCGA-G9-A9S4-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d36ef053-e634-4711-9ee4-dac20b166856	3aac36e8-fe99-4218-9fb8-dba6dd6ea066	g.chr12:121647993C>T	ENST00000337233.4	+	1	334	c.26C>T	c.(25-27)gCg>gTg	p.A9V	P2RX4_ENST00000359949.7_Missense_Mutation_p.A9V|P2RX4_ENST00000541532.1_Missense_Mutation_p.A9V|P2RX4_ENST00000540930.1_3'UTR|P2RX4_ENST00000543171.1_5'UTR	NM_001261397.1|NM_001261398.1|NM_002560.2	NP_001248326.1|NP_001248327.1|NP_002551.2	Q99571	P2RX4_HUMAN	purinergic receptor P2X, ligand-gated ion channel, 4	9					apoptotic signaling pathway (GO:0097190)|calcium ion transport (GO:0006816)|cation transmembrane transport (GO:0098655)|cellular response to ATP (GO:0071318)|endothelial cell activation (GO:0042118)|ion transmembrane transport (GO:0034220)|membrane depolarization (GO:0051899)|negative regulation of cardiac muscle hypertrophy (GO:0010614)|neuronal action potential (GO:0019228)|nitric oxide biosynthetic process (GO:0006809)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of prostaglandin secretion (GO:0032308)|protein homooligomerization (GO:0051260)|purinergic nucleotide receptor signaling pathway (GO:0035590)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle contraction (GO:0055117)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of sodium ion transport (GO:0002028)|relaxation of cardiac muscle (GO:0055119)|response to ATP (GO:0033198)|response to fluid shear stress (GO:0034405)|sensory perception of pain (GO:0019233)|signal transduction (GO:0007165)|tissue homeostasis (GO:0001894)|transport (GO:0006810)|vasodilation (GO:0042311)	apical part of cell (GO:0045177)|cell junction (GO:0030054)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|integral component of nuclear inner membrane (GO:0005639)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|terminal bouton (GO:0043195)	ATP binding (GO:0005524)|cadherin binding (GO:0045296)|copper ion binding (GO:0005507)|drug binding (GO:0008144)|extracellular ATP-gated cation channel activity (GO:0004931)|protein homodimerization activity (GO:0042803)|purinergic nucleotide receptor activity (GO:0001614)|receptor binding (GO:0005102)|zinc ion binding (GO:0008270)			breast(1)|kidney(4)|large_intestine(4)|lung(7)|prostate(1)	17	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					GCCGCGCTGGCGGCCTTCCTG	0.716																																						ENST00000337233.4																			0				breast(1)|kidney(4)|large_intestine(4)|lung(7)|prostate(1)	17						c.(25-27)gCg>gTg		purinergic receptor P2X, ligand-gated ion channel, 4							12	12	12					12																	121647993		2179	4258	6437	SO:0001583	missense	5025				endothelial cell activation|negative regulation of cardiac muscle hypertrophy|positive regulation of calcium ion transport into cytosol|positive regulation of calcium-mediated signaling|positive regulation of nitric oxide biosynthetic process|positive regulation of prostaglandin secretion|regulation of apoptosis|regulation of blood pressure|regulation of sodium ion transport|relaxation of cardiac muscle|response to ATP|response to fluid shear stress|sensory perception of pain|tissue homeostasis	cell junction|perinuclear region of cytoplasm	cadherin binding|copper ion binding|extracellular ATP-gated cation channel activity|protein homodimerization activity|purinergic nucleotide receptor activity|receptor binding|zinc ion binding	g.chr12:121647993C>T	Y07684	CCDS9214.1, CCDS58282.1	12q24.32	2012-01-17			ENSG00000135124	ENSG00000135124		"Purinergic receptors", "Ligand-gated ion channels / Purinergic receptors, ionotropic"	8535	protein-coding gene	gene with protein product		600846				9016352	Standard	NM_002560		Approved	P2X4	uc031qjt.1	Q99571	OTTHUMG00000169155	ENST00000337233.4:c.26C>T	12.37:g.121647993C>T	ENSP00000336607:p.Ala9Val					P2RX4_ENST00000543171.1_5'UTR|P2RX4_ENST00000540930.1_3'UTR|P2RX4_ENST00000359949.7_Missense_Mutation_p.A9V|P2RX4_ENST00000541532.1_Missense_Mutation_p.A9V	p.A9V	NM_001261397.1|NM_001261398.1|NM_002560.2	NP_001248326.1|NP_001248327.1|NP_002551.2	Q99571	P2RX4_HUMAN			1	334	+	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)		9					E7EPF7|F6RU17|O00450|O14722|Q5U089|Q5U090|Q8N4N1|Q9UBG9	Missense_Mutation	SNP	ENST00000337233.4	37	c.26C>T	CCDS9214.1	.	.	.	.	.	.	.	.	.	.	C	15.03	2.711523	0.48517	.	.	ENSG00000135124	ENST00000337233;ENST00000359949;ENST00000541532;ENST00000538701;ENST00000542067	T;T;T;T;T	0.21734	3.69;3.7;1.99;2.82;3.58	3.91	-0.717	0.11208	.	1.106290	0.06719	N	0.774485	T	0.06600	0.0169	N	0.02916	-0.46	0.20074	N	0.999934	B;P;P	0.41710	0.281;0.76;0.553	B;B;B	0.25614	0.026;0.062;0.026	T	0.29941	-0.9995	10	0.17369	T	0.5	0.0103	11.2353	0.48936	0.2185:0.1924:0.5891:0.0	.	9;9;9	F6RU17;E7EPF7;Q99571	.;.;P2RX4_HUMAN	V	9	ENSP00000336607:A9V;ENSP00000353032:A9V;ENSP00000443115:A9V;ENSP00000444033:A9V;ENSP00000438329:A9V	ENSP00000336607:A9V	A	+	2	0	P2RX4	120132376	0.000000	0.05858	0.035000	0.18076	0.898000	0.52572	-2.251000	0.01186	-0.243000	0.09653	0.407000	0.27541	GCG		0.716	P2RX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402545.1	NM_175567		4	12	0	0	0	1	0	4	12					T	121647993	C	T	121647993	3	4	190	1	0	0	0	0	1	0	0	0	11342	768	27	1	28	1	P2RX4	12	121647993	Missense_Mutation	SNP	C	TCGA-G9-A9S4-01A-11D-A41K-08	25288513	121647993	12203902	23	8873											
SSTR1	6751	broad.mit.edu	37	chr14	38679324	38679324	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggctatctgcctgtgctacGtgctcatcattgctaagatg	7	13	11	10	1	3	1	2	0	1	1	3	1	3	1	1	1	5	4	1	1	3	4			TCGA-G9-A9S4-01A-11D-A41K-08	TCGA-G9-A9S4-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d36ef053-e634-4711-9ee4-dac20b166856	3aac36e8-fe99-4218-9fb8-dba6dd6ea066	g.chr14:38679324G>A	ENST00000267377.2	+	3	1347	c.730G>A	c.(730-732)Gtg>Atg	p.V244M		NM_001049.2	NP_001040.1	P30872	SSR1_HUMAN	somatostatin receptor 1	244					cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|cellular response to estradiol stimulus (GO:0071392)|cerebellum development (GO:0021549)|digestion (GO:0007586)|forebrain development (GO:0030900)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|glutamate receptor signaling pathway (GO:0007215)|negative regulation of cell proliferation (GO:0008285)|response to nutrient (GO:0007584)|response to starvation (GO:0042594)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	somatostatin receptor activity (GO:0004994)			breast(1)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00444)	Octreotide(DB00104)|Pasireotide(DB06663)	CCTGTGCTACGTGCTCATCAT	0.597																																						ENST00000267377.2																			0				breast(1)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29						c.(730-732)Gtg>Atg		somatostatin receptor 1	Octreotide(DB00104)						52	49	50					14																	38679324		2203	4300	6503	SO:0001583	missense	0				digestion|G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cell proliferation|response to nutrient	integral to plasma membrane	somatostatin receptor activity	g.chr14:38679324G>A		CCDS9666.1	14q13	2012-08-08			ENSG00000139874	ENSG00000139874		"GPCR / Class A : Somatostatin receptors"	11330	protein-coding gene	gene with protein product		182451				8449518	Standard	NM_001049		Approved		uc001wul.1	P30872	OTTHUMG00000140249	ENST00000267377.2:c.730G>A	14.37:g.38679324G>A	ENSP00000267377:p.Val244Met						p.V244M	NM_001049.2	NP_001040.1	P30872	SSR1_HUMAN	Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00444)	3	1347	+	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		244						Missense_Mutation	SNP	ENST00000267377.2	37	c.730G>A	CCDS9666.1	.	.	.	.	.	.	.	.	.	.	G	16.17	3.047510	0.55110	.	.	ENSG00000139874	ENST00000267377	T	0.72394	-0.65	4.82	4.82	0.62117	GPCR, rhodopsin-like superfamily (1);	0.147976	0.31673	N	0.007244	T	0.69242	0.3089	L	0.46885	1.475	0.33061	D	0.534076	P	0.50528	0.936	P	0.51974	0.686	T	0.77413	-0.2597	10	0.66056	D	0.02	.	6.607	0.22731	0.1916:0.0:0.8084:0.0	.	244	P30872	SSR1_HUMAN	M	244	ENSP00000267377:V244M	ENSP00000267377:V244M	V	+	1	0	SSTR1	37749075	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.548000	0.36201	2.514000	0.84764	0.561000	0.74099	GTG		0.597	SSTR1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409930.2			8	29	0	0	0	1	0	8	29					A	38679324	G	A	38679324	3	1	190	1	0	0	0	0	1	0	0	0	15196	1145	40	1	732	1	SSTR1	14	38679324	Missense_Mutation	SNP	G	TCGA-G9-A9S4-01A-11D-A41K-08		38679324	68670216	24	8874											
RPL10L	140801	broad.mit.edu	37	chr14	47120583	47120583	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acagtaccctggggttttccAaaggcacctcgcatacctgt	9	10	9	13	1	0	0	0	0	0	0	2	0	1	0	4	3	2	4	4	3	3	4			TCGA-G9-A9S4-01A-11D-A41K-08	TCGA-G9-A9S4-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d36ef053-e634-4711-9ee4-dac20b166856	3aac36e8-fe99-4218-9fb8-dba6dd6ea066	g.chr14:47120583A>C	ENST00000298283.3	-	1	445	c.357T>G	c.(355-357)ttT>ttG	p.F119L		NM_080746.2	NP_542784.1	Q96L21	RL10L_HUMAN	ribosomal protein L10-like	119					spermatogenesis (GO:0007283)|translation (GO:0006412)	cytosolic large ribosomal subunit (GO:0022625)|membrane (GO:0016020)|nucleus (GO:0005634)|polysome (GO:0005844)	structural constituent of ribosome (GO:0003735)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(20)|ovary(1)	27						GGGGTTTTCCAAAGGCACCTC	0.552																																						ENST00000298283.3																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(20)|ovary(1)	27						c.(355-357)ttT>ttG		ribosomal protein L10-like							60	61	61					14																	47120583		2203	4300	6503	SO:0001583	missense	140801				spermatogenesis|translation	cytosolic large ribosomal subunit|nucleus	structural constituent of ribosome	g.chr14:47120583A>C	AB063608	CCDS32071.1	14q21.2	2011-09-15			ENSG00000165496	ENSG00000165496		"L ribosomal proteins"	17976	protein-coding gene	gene with protein product						19123937	Standard	NM_080746		Approved		uc001wwg.3	Q96L21	OTTHUMG00000157869	ENST00000298283.3:c.357T>G	14.37:g.47120583A>C	ENSP00000298283:p.Phe119Leu						p.F119L	NM_080746.2	NP_542784.1	Q96L21	RL10L_HUMAN			1	445	-			119					Q8IUD1	Missense_Mutation	SNP	ENST00000298283.3	37	c.357T>G	CCDS32071.1	.	.	.	.	.	.	.	.	.	.	A	15.99	2.994917	0.54041	.	.	ENSG00000165496	ENST00000298283	D	0.83250	-1.7	4.38	-2.77	0.05877	Ribosomal protein L10e/L16 (2);Ribosomal protein L10e, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.88254	0.6387	H	0.98466	4.24	0.58432	D	0.999997	B	0.18610	0.029	B	0.29440	0.102	T	0.81284	-0.1002	10	0.87932	D	0	-26.0728	10.9816	0.47497	0.4325:0.0:0.5675:0.0	.	119	Q96L21	RL10L_HUMAN	L	119	ENSP00000298283:F119L	ENSP00000298283:F119L	F	-	3	2	RPL10L	46190333	0.800000	0.28916	0.966000	0.40874	0.857000	0.48899	-0.049000	0.11924	-0.497000	0.06641	-0.408000	0.06270	TTT		0.552	RPL10L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349819.1			15	21	0	0	0	1	0	15	21					C	47120583	A	C	47120583	3	2	190	1	0	0	0	0	1	0	0	0	13556	127	5	5	291	5	RPL10L	14	47120583	Missense_Mutation	SNP	A	TCGA-G9-A9S4-01A-11D-A41K-08	8441259	47120583	60228957	25	8875											
PCNX	22990	broad.mit.edu	37	chr14	71485738	71485738	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gtccgtagaaatcgtgagatCctggaaaatgtgttagctgt	11	12	12	6	2	0	2	0	1	0	2	3	4	2	3	2	1	1	3	2	1	5	2			TCGA-G9-A9S4-01A-11D-A41K-08	TCGA-G9-A9S4-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d36ef053-e634-4711-9ee4-dac20b166856	3aac36e8-fe99-4218-9fb8-dba6dd6ea066	g.chr14:71485738C>T	ENST00000304743.2	+	12	3455	c.3009C>T	c.(3007-3009)atC>atT	p.I1003I	PCNX_ENST00000238570.5_Silent_p.I1003I|PCNX_ENST00000439984.3_Silent_p.I892I	NM_014982.2	NP_055797.2	Q96RV3	PCX1_HUMAN	pecanex homolog (Drosophila)	1003						integral component of membrane (GO:0016021)				NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1)	87			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)		ATCGTGAGATCCTGGAAAATG	0.373																																						ENST00000304743.2																			0				NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1)	87						c.(3007-3009)atC>atT		pecanex homolog (Drosophila)							200	178	186					14																	71485738		2203	4300	6503	SO:0001819	synonymous_variant	22990					integral to membrane		g.chr14:71485738C>T	AF233450, AB018348	CCDS9806.1	14q24.2	2014-07-03							19740	protein-coding gene	gene with protein product			"pecanex-like 1 (Drosophila)"	PCNXL1		9244429, 15777640	Standard	NM_014982		Approved	KIAA0995, KIAA0805, pecanex	uc001xmo.2	Q96RV3		ENST00000304743.2:c.3009C>T	14.37:g.71485738C>T						PCNX_ENST00000238570.5_Silent_p.I1003I|PCNX_ENST00000439984.3_Silent_p.I892I	p.I1003I	NM_014982.2	NP_055797.2	Q96RV3	PCX1_HUMAN	KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)	12	3455	+			1003					B2RTR6|O94897|Q96AI7|Q9Y2J9	Silent	SNP	ENST00000304743.2	37	c.3009C>T	CCDS9806.1	.	.	.	.	.	.	.	.	.	.	C	9.708	1.156353	0.21454	.	.	ENSG00000100731	ENST00000554691	.	.	.	5.69	2.42	0.29668	.	.	.	.	.	T	0.56187	0.1968	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.49661	-0.8916	4	.	.	.	.	8.0898	0.30795	0.1259:0.693:0.1094:0.0716	.	.	.	.	F	62	.	.	S	+	2	0	PCNX	70555491	0.999000	0.42202	1.000000	0.80357	0.995000	0.86356	0.640000	0.24705	0.695000	0.31675	0.655000	0.94253	TCC		0.373	PCNX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412479.1	NM_014982		43	78	0	0	0	1	0	43	78					T	71485738	C	T	71485738	2	4	190	1	0	0	0	0	0	0	0	1	11591	845	30	3		3	PCNX	14	71485738	Silent	SNP	C	TCGA-G9-A9S4-01A-11D-A41K-08	24365155	71485738	35863802	26	8876											
SNX33	257364	broad.mit.edu	37	chr15	75942239	75942239	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcctcacccgtctaccggCgctacaaacactttgactgg	8	9	8	16	3	2	1	1	1	1	0	2	1	2	1	3	2	4	1	3	2	3	3			TCGA-G9-A9S4-01A-11D-A41K-08	TCGA-G9-A9S4-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d36ef053-e634-4711-9ee4-dac20b166856	3aac36e8-fe99-4218-9fb8-dba6dd6ea066	g.chr15:75942239C>T	ENST00000308527.5	+	1	1993	c.796C>T	c.(796-798)Cgc>Tgc	p.R266C	IMP3_ENST00000565349.1_5'Flank|IMP3_ENST00000314852.2_5'Flank	NM_153271.1	NP_695003.1	Q8WV41	SNX33_HUMAN	sorting nexin 33	266	PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.				cleavage furrow formation (GO:0036089)|endocytosis (GO:0006897)|endosomal transport (GO:0016197)|endosome organization (GO:0007032)|intracellular protein transport (GO:0006886)|macropinocytosis (GO:0044351)|membrane tubulation (GO:0097320)|mitotic cytokinesis (GO:0000281)|mitotic nuclear division (GO:0007067)|negative regulation of endocytosis (GO:0045806)|negative regulation of protein localization to cell surface (GO:2000009)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|positive regulation of protein localization to cell surface (GO:2000010)|protein import (GO:0017038)	cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endosome (GO:0005768)|extrinsic component of membrane (GO:0019898)|membrane (GO:0016020)	identical protein binding (GO:0042802)|phosphatidylinositol binding (GO:0035091)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)|soft_tissue(1)|urinary_tract(2)	19						CGTCTACCGGCGCTACAAACA	0.552																																						ENST00000308527.5																			0				breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)|soft_tissue(1)|urinary_tract(2)	19						c.(796-798)Cgc>Tgc		sorting nexin 33							148	136	140					15																	75942239		2197	4294	6491	SO:0001583	missense	257364				cell communication		phosphatidylinositol binding|protein binding	g.chr15:75942239C>T	AK091291	CCDS10283.1	15q23	2008-04-18	2008-03-25	2008-03-25	ENSG00000173548	ENSG00000173548			28468	protein-coding gene	gene with protein product			"SH3 and PX domain containing 3"	SH3PX3		16374509, 16782399, 18353773	Standard	NM_153271		Approved	MGC32065, SH3PXD3C, SNX30	uc002bau.3	Q8WV41	OTTHUMG00000142835	ENST00000308527.5:c.796C>T	15.37:g.75942239C>T	ENSP00000311427:p.Arg266Cys						p.R266C	NM_153271.1	NP_695003.1	Q8WV41	SNX33_HUMAN			1	1993	+			266			PX.		B1NM17	Missense_Mutation	SNP	ENST00000308527.5	37	c.796C>T	CCDS10283.1	.	.	.	.	.	.	.	.	.	.	C	13.06	2.124439	0.37533	.	.	ENSG00000173548	ENST00000308527	T	0.55234	0.53	5.42	5.42	0.78866	Phox homologous domain (5);	0.000000	0.85682	D	0.000000	D	0.83101	0.5181	H	0.97783	4.075	0.80722	D	1	D	0.89917	1.0	D	0.72982	0.979	D	0.89549	0.3798	10	0.87932	D	0	-7.8478	17.7863	0.88539	0.0:1.0:0.0:0.0	.	266	Q8WV41	SNX33_HUMAN	C	266	ENSP00000311427:R266C	ENSP00000311427:R266C	R	+	1	0	SNX33	73729294	1.000000	0.71417	1.000000	0.80357	0.839000	0.47603	7.817000	0.86213	2.543000	0.85770	0.561000	0.74099	CGC		0.552	SNX33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286471.1	NM_153271		22	57	0	0	0	1	0	22	57					T	75942239	C	T	75942239	3	4	190	1	0	0	0	0	1	0	0	0	14903	768	27	1	798	1	SNX33	15	75942239	Missense_Mutation	SNP	C	TCGA-G9-A9S4-01A-11D-A41K-08		75942239	26589153	27	8877											
SRR	63826	broad.mit.edu	37	chr17	2222193	2222193	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaatacaagcctacggagcGtcaattgtatactgtgaacc	13	9	9	10	2	1	1	1	1	0	0	1	2	1	2	2	1	6	2	2	1	8	5	rs199981539	byFrequency	TCGA-G9-A9S4-01A-11D-A41K-08	TCGA-G9-A9S4-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d36ef053-e634-4711-9ee4-dac20b166856	3aac36e8-fe99-4218-9fb8-dba6dd6ea066	g.chr17:2222193G>A	ENST00000344595.5	+	4	687	c.369G>A	c.(367-369)gcG>gcA	p.A123A	SRR_ENST00000576848.1_Intron	NM_021947.1	NP_068766.1	Q9GZT4	SRR_HUMAN	serine racemase	123					aging (GO:0007568)|brain development (GO:0007420)|D-serine biosynthetic process (GO:0070179)|D-serine metabolic process (GO:0070178)|L-serine metabolic process (GO:0006563)|protein homotetramerization (GO:0051289)|pyruvate biosynthetic process (GO:0042866)|response to drug (GO:0042493)|response to lipopolysaccharide (GO:0032496)|response to morphine (GO:0043278)|serine family amino acid metabolic process (GO:0009069)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|D-serine ammonia-lyase activity (GO:0008721)|glycine binding (GO:0016594)|L-serine ammonia-lyase activity (GO:0003941)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|protein homodimerization activity (GO:0042803)|pyridoxal phosphate binding (GO:0030170)|serine racemase activity (GO:0030378)|threonine racemase activity (GO:0018114)			NS(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	8		Colorectal(1115;3.46e-05)|Myeloproliferative disorder(207;0.0255)		COAD - Colon adenocarcinoma(228;3.24e-06)|READ - Rectum adenocarcinoma(1115;0.0649)	L-Serine(DB00133)	CCTACGGAGCGTCAATTGTAT	0.453													G|||	3	0.000599042	0	0	5008	,	,		18457	0		0.001	False		,,,				2504	0.002					ENST00000344595.5																			0				NS(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	8						c.(367-369)gcG>gcA		serine racemase	L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)						158	147	151					17																	2222193		2203	4300	6503	SO:0001819	synonymous_variant	63826				D-serine biosynthetic process|L-serine metabolic process|protein homotetramerization|pyruvate biosynthetic process|response to lipopolysaccharide	cytoplasm|neuronal cell body|soluble fraction	ATP binding|calcium ion binding|D-serine ammonia-lyase activity|glycine binding|L-serine ammonia-lyase activity|magnesium ion binding|PDZ domain binding|protein homodimerization activity|pyridoxal phosphate binding|serine racemase activity|threonine racemase activity	g.chr17:2222193G>A	AF169974	CCDS11017.1	17p13	2007-01-18			ENSG00000167720	ENSG00000167720			14398	protein-coding gene	gene with protein product		606477				17067558, 15953485, 15193426	Standard	NM_021947		Approved	ILV1, ISO1	uc002fue.1	Q9GZT4	OTTHUMG00000090583	ENST00000344595.5:c.369G>A	17.37:g.2222193G>A						SRR_ENST00000576848.1_Intron	p.A123A	NM_021947.1	NP_068766.1	Q9GZT4	SRR_HUMAN		COAD - Colon adenocarcinoma(228;3.24e-06)|READ - Rectum adenocarcinoma(1115;0.0649)	4	687	+		Colorectal(1115;3.46e-05)|Myeloproliferative disorder(207;0.0255)	123					D3DTI5|Q6IA55	Silent	SNP	ENST00000344595.5	37	c.369G>A	CCDS11017.1																																																																																				0.453	SRR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207129.2	NM_021947		6	138	0	0	0	1	0	6	138					A	2222193	G	A	2222193	2	1	190	1	0	0	0	0	0	0	0	1	15165	1132	40	1		1	SRR	17	2222193	Silent	SNP	G	TCGA-G9-A9S4-01A-11D-A41K-08		2222193	78973017	28	8878											
TP53	7157	broad.mit.edu	37	chr17	7578443	7578443	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	catgtgctgtgactgcttgtAgatggccatggcgcggacgc	6	10	15	10	3	0	2	0	1	0	1	0	3	0	3	1	3	2	3	1	3	1	2			TCGA-G9-A9S4-01A-11D-A41K-08	TCGA-G9-A9S4-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d36ef053-e634-4711-9ee4-dac20b166856	3aac36e8-fe99-4218-9fb8-dba6dd6ea066	g.chr17:7578443A>G	ENST00000269305.4	-	5	676	c.487T>C	c.(487-489)Tac>Cac	p.Y163H	TP53_ENST00000359597.4_Missense_Mutation_p.Y163H|TP53_ENST00000455263.2_Missense_Mutation_p.Y163H|TP53_ENST00000420246.2_Missense_Mutation_p.Y163H|TP53_ENST00000413465.2_Missense_Mutation_p.Y163H|TP53_ENST00000445888.2_Missense_Mutation_p.Y163H|TP53_ENST00000574684.1_5'Flank	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	163	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		Y -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17224074}.|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in a sporadic cancer; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:17224074}.|Y -> N (in sporadic cancers; somatic mutation).|Y -> S (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.Y163N(20)|p.Y163H(17)|p.0?(8)|p.Y163D(5)|p.I162_Y163>N(3)|p.Y163fs*7(2)|p.V157_C176del20(1)|p.Y163fs*1(1)|p.Y163_Q165delYKQ(1)|p.P151_V173del23(1)|p.S149fs*72(1)|p.I30_Y31>N(1)|p.I162_Y163delIY(1)|p.I69_Y70>N(1)|p.Y70N(1)|p.A161fs*7(1)|p.Y31N(1)|p.Y163fs*14(1)|p.A159_Q167delAMAIYKQSQ(1)|p.Y163fs*18(1)|p.Y70D(1)|p.Y31D(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GACTGCTTGTAGATGGCCATG	0.622		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"Mis, N, F"	tumor protein p53			"L, E, M, O"		"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"	"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"		71	Substitution - Missense(46)|Whole gene deletion(8)|Deletion - Frameshift(6)|Deletion - In frame(5)|Complex - deletion inframe(5)|Insertion - Frameshift(1)	p.Y163N(20)|p.Y163H(17)|p.0?(8)|p.Y163D(5)|p.I162_Y163>N(3)|p.Y163fs*7(2)|p.V157_C176del20(1)|p.Y163fs*1(1)|p.Y163_Q165delYKQ(1)|p.P151_V173del23(1)|p.S149fs*72(1)|p.I30_Y31>N(1)|p.I162_Y163delIY(1)|p.I69_Y70>N(1)|p.Y70N(1)|p.A161fs*7(1)|p.Y31N(1)|p.Y163fs*14(1)|p.A159_Q167delAMAIYKQSQ(1)|p.Y163fs*18(1)|p.Y70D(1)|p.Y31D(1)	breast(14)|lung(12)|liver(8)|skin(6)|large_intestine(4)|haematopoietic_and_lymphoid_tissue(4)|oesophagus(4)|bone(4)|upper_aerodigestive_tract(3)|central_nervous_system(3)|ovary(3)|stomach(2)|adrenal_gland(1)|biliary_tract(1)|prostate(1)|pancreas(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185						c.(487-489)Tac>Cac	Other conserved DNA damage response genes	tumor protein p53							53	54	53					17																	7578443		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578443A>G	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"Li-Fraumeni syndrome"	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.487T>C	17.37:g.7578443A>G	ENSP00000269305:p.Tyr163His	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_ENST00000269305.4_Missense_Mutation_p.Y163H|TP53_ENST00000445888.2_Missense_Mutation_p.Y163H|TP53_ENST00000359597.4_Missense_Mutation_p.Y163H|TP53_ENST00000455263.2_Missense_Mutation_p.Y163H|TP53_ENST00000413465.2_Missense_Mutation_p.Y163H	p.Y163H	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	5	619	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	163		Y -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in a sporadic cancer; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation).|Y -> N (in sporadic cancers; somatic mutation).|Y -> S (in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.487T>C	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	A	15.72	2.916592	0.52546	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315;ENST00000508793	D;D;D;D;D;D;D;D;D	0.99869	-7.33;-7.33;-7.33;-7.33;-7.33;-7.33;-7.33;-7.33;-7.33	5.59	4.52	0.55395	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.062225	0.64402	D	0.000003	D	0.99843	0.9928	M	0.89478	3.035	0.53005	D	0.999963	D;D;D;D;D;D;D	0.89917	0.997;1.0;0.998;1.0;1.0;1.0;0.999	D;D;D;D;D;D;D	0.91635	0.996;0.999;0.983;0.999;0.999;0.999;0.994	D	0.97202	0.9865	10	0.87932	D	0	-16.6607	9.9777	0.41795	0.9196:0.0:0.0804:0.0	.	124;163;163;70;163;163;163	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	H	163;163;163;163;163;163;152;70;31;70;31;163	ENSP00000410739:Y163H;ENSP00000352610:Y163H;ENSP00000269305:Y163H;ENSP00000398846:Y163H;ENSP00000391127:Y163H;ENSP00000391478:Y163H;ENSP00000425104:Y31H;ENSP00000423862:Y70H;ENSP00000424104:Y163H	ENSP00000269305:Y163H	Y	-	1	0	TP53	7519168	1.000000	0.71417	0.998000	0.56505	0.047000	0.14425	9.287000	0.95975	1.067000	0.40740	-0.256000	0.11100	TAC		0.622	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		25	23	0	0	0	1	0	25	23					G	7578443	A	G	7578443	3	3	190	1	0	0	0	0	1	0	0	0	16378	420	15	4	811	4	TP53	17	7578443	Missense_Mutation	SNP	A	TCGA-G9-A9S4-01A-11D-A41K-08	5356250	7578443	73616767	29	8879											
MSI2	124540	broad.mit.edu	37	chr17	55752422	55752422	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gccctgccagccaggactccGgagtggggaattacataagt	10	7	13	11	1	0	0	0	0	0	0	1	3	1	3	4	4	3	0	4	4	3	2			TCGA-G9-A9S4-01A-11D-A41K-08	TCGA-G9-A9S4-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d36ef053-e634-4711-9ee4-dac20b166856	3aac36e8-fe99-4218-9fb8-dba6dd6ea066	g.chr17:55752422G>A	ENST00000284073.2	+	12	1089	c.880G>A	c.(880-882)Gga>Aga	p.G294R	MSI2_ENST00000416426.2_Missense_Mutation_p.G290R|MSI2_ENST00000442934.2_Missense_Mutation_p.G233R	NM_138962.2	NP_620412.1	Q96DH6	MSI2H_HUMAN	musashi RNA-binding protein 2	294						cytoplasm (GO:0005737)|polysome (GO:0005844)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|poly(U) RNA binding (GO:0008266)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(1)|pancreas(1)|skin(1)	7	Breast(9;1.78e-08)			GBM - Glioblastoma multiforme(1;0.0025)		CCAGGACTCCGGAGTGGGGAA	0.692			T	HOXA9	CML																																	ENST00000284073.2				Dom	yes		17	17q23.2	124540	T	musashi homolog 2 (Drosophila)			L	HOXA9		CML		0				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(1)|pancreas(1)|skin(1)	7						c.(880-882)Gga>Aga		musashi RNA-binding protein 2							54	62	59					17																	55752422		2203	4299	6502	SO:0001583	missense	0					cytoplasm	nucleotide binding|RNA binding	g.chr17:55752422G>A	BC001526	CCDS11596.1, CCDS11597.1	17q23.2	2013-07-16	2012-12-13					"RNA binding motif (RRM) containing"	18585	protein-coding gene	gene with protein product		607897	"musashi homolog 2 (Drosophila)"			11588182	Standard	NM_138962		Approved		uc002iuz.1	Q96DH6		ENST00000284073.2:c.880G>A	17.37:g.55752422G>A	ENSP00000284073:p.Gly294Arg					MSI2_ENST00000442934.2_Missense_Mutation_p.G233R|MSI2_ENST00000416426.2_Missense_Mutation_p.G290R	p.G294R	NM_138962.2	NP_620412.1	Q96DH6	MSI2H_HUMAN		GBM - Glioblastoma multiforme(1;0.0025)	12	1089	+	Breast(9;1.78e-08)		294					Q7Z6M7|Q8N9T4	Missense_Mutation	SNP	ENST00000284073.2	37	c.880G>A	CCDS11596.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.056916	0.76074	.	.	ENSG00000153944	ENST00000416426;ENST00000284073;ENST00000442934	D;D;D	0.86694	-2.16;-2.16;-2.16	4.53	4.53	0.55603	.	0.054326	0.64402	D	0.000001	D	0.86464	0.5939	L	0.50333	1.59	0.80722	D	1	D;P	0.62365	0.991;0.878	P;B	0.47102	0.537;0.413	D	0.86136	0.1578	10	0.34782	T	0.22	.	17.3366	0.87283	0.0:0.0:1.0:0.0	.	290;294	B4DHE8;Q96DH6	.;MSI2H_HUMAN	R	290;294;233	ENSP00000414671:G290R;ENSP00000284073:G294R;ENSP00000392607:G233R	ENSP00000284073:G294R	G	+	1	0	MSI2	53107421	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.456000	0.97628	2.083000	0.62718	0.556000	0.70494	GGA		0.692	MSI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441813.1			30	45	0	0	0	1	0	30	45					A	55752422	G	A	55752422	3	1	190	1	0	0	0	0	1	0	0	0	9876	1117	39	2	1021	2	MSI2	17	55752422	Missense_Mutation	SNP	G	TCGA-G9-A9S4-01A-11D-A41K-08	48173979	55752422	25442788	30	8880											
ERN1	2081	broad.mit.edu	37	chr17	62133144	62133144	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgctggggctgctggtgccCgagctctctgagtacgggcc	3	9	17	12	2	1	1	0	1	1	0	2	2	1	1	2	4	5	5	2	4	1	1			TCGA-G9-A9S4-01A-11D-A41K-08	TCGA-G9-A9S4-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d36ef053-e634-4711-9ee4-dac20b166856	3aac36e8-fe99-4218-9fb8-dba6dd6ea066	g.chr17:62133144C>T	ENST00000433197.3	-	13	1658	c.1563G>A	c.(1561-1563)tcG>tcA	p.S521S		NM_001433.3	NP_001424.3			endoplasmic reticulum to nucleus signaling 1											central_nervous_system(4)|kidney(1)|lung(2)|ovary(1)|stomach(1)	9						TGCTGGTGCCCGAGCTCTCTG	0.682																																						ENST00000433197.2																			0				central_nervous_system(4)|kidney(1)|lung(2)|ovary(1)|stomach(1)	9						c.(1561-1563)tcG>tcA		endoplasmic reticulum to nucleus signaling 1							13	16	15					17																	62133144		2074	4225	6299	SO:0001819	synonymous_variant	2081				activation of signaling protein activity involved in unfolded protein response|apoptosis|cell cycle arrest|induction of apoptosis|mRNA processing|regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to endoplasmic reticulum membrane	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein binding|protein serine/threonine kinase activity	g.chr17:62133144C>T	AF059198	CCDS45762.1	17q23	2011-08-12	2007-08-14			ENSG00000178607			3449	protein-coding gene	gene with protein product	"inositol-requiring enzyme 1"	604033	"ER to nucleus signalling 1"			9637683	Standard	NM_001433		Approved	IRE1, IRE1P	uc002jdz.2	O75460		ENST00000433197.3:c.1563G>A	17.37:g.62133144C>T							p.S521S	NM_001433.3	NP_001424.3	O75460	ERN1_HUMAN			13	1658	-			521						Silent	SNP	ENST00000433197.3	37	c.1563G>A	CCDS45762.1																																																																																				0.682	ERN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443734.2	NM_001433		3	7	0	0	0	1	0	3	7					T	62133144	C	T	62133144	2	4	190	1	0	0	0	0	0	0	0	1	5237	639	23	2		2	ERN1	17	62133144	Silent	SNP	C	TCGA-G9-A9S4-01A-11D-A41K-08	6380722	62133144	19062066	31	8881											
EMILIN2	84034	broad.mit.edu	37	chr18	2892375	2892375	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atgaacggaacgctcaggtcGcattccagagacatttctgg	11	9	11	10	3	2	2	1	1	1	1	4	4	3	3	1	3	2	2	1	3	2	2			TCGA-G9-A9S4-01A-11D-A41K-08	TCGA-G9-A9S4-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d36ef053-e634-4711-9ee4-dac20b166856	3aac36e8-fe99-4218-9fb8-dba6dd6ea066	g.chr18:2892375G>A	ENST00000254528.3	+	4	2409	c.2250G>A	c.(2248-2250)tcG>tcA	p.S750S		NM_032048.2	NP_114437.2	Q9BXX0	EMIL2_HUMAN	elastin microfibril interfacer 2	750					cell adhesion (GO:0007155)	collagen trimer (GO:0005581)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix constituent conferring elasticity (GO:0030023)			breast(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(4)	48				READ - Rectum adenocarcinoma(2;0.1)		CGCTCAGGTCGCATTCCAGAG	0.483																																						ENST00000254528.3																			0				breast(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(4)	48						c.(2248-2250)tcG>tcA		elastin microfibril interfacer 2							62	57	59					18																	2892375		2203	4300	6503	SO:0001819	synonymous_variant	84034				cell adhesion	collagen	extracellular matrix constituent conferring elasticity|protein binding	g.chr18:2892375G>A	AF270513	CCDS11828.1	18p11.3	2008-02-05			ENSG00000132205	ENSG00000132205		"EMI domain containing"	19881	protein-coding gene	gene with protein product		608928					Standard	NM_032048		Approved	FLJ33200, FOAP-10	uc002kln.3	Q9BXX0	OTTHUMG00000128525	ENST00000254528.3:c.2250G>A	18.37:g.2892375G>A							p.S750S	NM_032048.2	NP_114437.2	Q9BXX0	EMIL2_HUMAN		READ - Rectum adenocarcinoma(2;0.1)	4	2409	+			750					B2RMY3|Q8NBH3|Q96JQ4	Silent	SNP	ENST00000254528.3	37	c.2250G>A	CCDS11828.1																																																																																				0.483	EMILIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250337.2	NM_032048		28	27	0	0	0	1	0	28	27					A	2892375	G	A	2892375	2	1	190	1	0	0	0	0	0	0	0	1	5094	1074	38	1		1	EMILIN2	18	2892375	Silent	SNP	G	TCGA-G9-A9S4-01A-11D-A41K-08		2892375	75184873	32	8882											
MYL12A	10627	broad.mit.edu	37	chr18	3255826	3255826	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gaggaagtggatgagctgtaCagagaagcacctattgataa	15	8	13	5	0	0	3	0	2	0	1	0	7	0	5	1	2	3	3	1	2	5	4			TCGA-G9-A9S4-01A-11D-A41K-08	TCGA-G9-A9S4-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d36ef053-e634-4711-9ee4-dac20b166856	3aac36e8-fe99-4218-9fb8-dba6dd6ea066	g.chr18:3255826C>T	ENST00000217652.3	+	4	821	c.426C>T	c.(424-426)taC>taT	p.Y142Y	MYL12A_ENST00000578611.1_Silent_p.Y142Y|RP13-270P17.1_ENST00000578800.1_RNA|MYL12A_ENST00000580887.1_Silent_p.Y148Y|MYL12A_ENST00000536605.1_Silent_p.Y142Y|MYL12A_ENST00000579226.1_Silent_p.Y142Y|RP13-270P17.1_ENST00000581905.1_RNA	NM_006471.2	NP_006462.1	P19105	ML12A_HUMAN	myosin, light chain 12A, regulatory, non-sarcomeric	142	EF-hand 3. {ECO:0000255|PROSITE- ProRule:PRU00448}.				platelet aggregation (GO:0070527)|protein targeting to plasma membrane (GO:0072661)|regulation of cell shape (GO:0008360)	extracellular vesicular exosome (GO:0070062)|myosin II complex (GO:0016460)|stress fiber (GO:0001725)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)			NS(1)|kidney(2)|large_intestine(2)	5						ATGAGCTGTACAGAGAAGCAC	0.423																																						ENST00000217652.3																			0				NS(1)|kidney(2)|large_intestine(2)	5						c.(424-426)taC>taT		myosin, light chain 12A, regulatory, non-sarcomeric							87	75	79					18																	3255826		2203	4300	6503	SO:0001819	synonymous_variant	10627					myosin complex	calcium ion binding|protein binding	g.chr18:3255826C>T	X54304	CCDS11830.1	18p11.31	2013-01-10	2002-08-29		ENSG00000101608	ENSG00000101608		"Myosins / Light chain", "EF-hand domain containing"	16701	protein-coding gene	gene with protein product	"myosin regulatory light chain 3"		"myosin, light polypeptide, regulatory, non-sarcomeric (20kD)"			2216787	Standard	NM_006471		Approved	MLCB, MYL2B, MRLC3, MRCL3	uc002klr.3	P19105	OTTHUMG00000131509	ENST00000217652.3:c.426C>T	18.37:g.3255826C>T						MYL12A_ENST00000536605.1_Silent_p.Y142Y|MYL12A_ENST00000578611.1_Silent_p.Y142Y|MYL12A_ENST00000579226.1_Silent_p.Y142Y|RP13-270P17.1_ENST00000578800.1_RNA|MYL12A_ENST00000580887.1_Silent_p.Y148Y|RP13-270P17.1_ENST00000581905.1_RNA	p.Y142Y	NM_006471.2	NP_006462.1	P19105	ML12A_HUMAN			4	821	+			142			EF-hand 3.		Q53X45	Silent	SNP	ENST00000217652.3	37	c.426C>T	CCDS11830.1																																																																																				0.423	MYL12A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254364.2	NM_006471		8	24	0	0	0	1	0	8	24					T	3255826	C	T	3255826	2	4	190	1	0	0	0	0	0	0	0	1	10045	489	17	3		3	MYL12A	18	3255826	Silent	SNP	C	TCGA-G9-A9S4-01A-11D-A41K-08	363451	3255826	74821422	33	8883											
HRH4	59340	broad.mit.edu	37	chr18	22057269	22057269	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggagattagccaagtcactgGccattctcttaggggttttt	8	14	11	8	0	2	1	1	0	1	1	3	2	2	1	2	4	1	1	2	4	3	5			TCGA-G9-A9S4-01A-11D-A41K-08	TCGA-G9-A9S4-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d36ef053-e634-4711-9ee4-dac20b166856	3aac36e8-fe99-4218-9fb8-dba6dd6ea066	g.chr18:22057269G>T	ENST00000256906.4	+	3	1016	c.916G>T	c.(916-918)Gcc>Tcc	p.A306S	HRH4_ENST00000426880.2_Missense_Mutation_p.A218S	NM_001160166.1|NM_021624.3	NP_001153638.1|NP_067637.2	Q9H3N8	HRH4_HUMAN	histamine receptor H4	306					inflammatory response (GO:0006954)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of MAPK cascade (GO:0043408)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	histamine receptor activity (GO:0004969)	p.A306S(1)		endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22	all_cancers(21;0.000545)|all_epithelial(16;6.56e-06)|Lung NSC(20;0.0027)|all_lung(20;0.0085)|Colorectal(14;0.0361)|Ovarian(20;0.0991)				Amitriptyline(DB00321)|Amoxapine(DB00543)|Chlorpromazine(DB00477)|Clozapine(DB00363)|Doxepin(DB01142)|Histamine Phosphate(DB00667)|Loxapine(DB00408)|Mianserin(DB06148)|Olanzapine(DB00334)	CAAGTCACTGGCCATTCTCTT	0.438																																						ENST00000256906.4																			1	Substitution - Missense(1)	p.A306S(1)	lung(1)	endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						c.(916-918)Gcc>Tcc		histamine receptor H4	Clozapine(DB00363)						207	206	206					18																	22057269		2203	4300	6503	SO:0001583	missense	59340					integral to membrane|plasma membrane	histamine receptor activity	g.chr18:22057269G>T	AF312230	CCDS11887.1, CCDS45841.1	18q11.2	2012-08-08			ENSG00000134489	ENSG00000134489		"GPCR / Class A : Histamine receptors"	17383	protein-coding gene	gene with protein product		606792				11118334, 10973974	Standard	NM_021624		Approved	H4R, HH4R, AXOR35, GPCR105, GPRv53	uc002kvi.3	Q9H3N8	OTTHUMG00000131945	ENST00000256906.4:c.916G>T	18.37:g.22057269G>T	ENSP00000256906:p.Ala306Ser					HRH4_ENST00000426880.2_Missense_Mutation_p.A218S	p.A306S	NM_001160166.1|NM_021624.3	NP_001153638.1|NP_067637.2	Q9H3N8	HRH4_HUMAN			3	1016	+	all_cancers(21;0.000545)|all_epithelial(16;6.56e-06)|Lung NSC(20;0.0027)|all_lung(20;0.0085)|Colorectal(14;0.0361)|Ovarian(20;0.0991)		306					B0YJ19|B2KJ48|Q4G0I6|Q9GZQ0	Missense_Mutation	SNP	ENST00000256906.4	37	c.916G>T	CCDS11887.1	.	.	.	.	.	.	.	.	.	.	G	24.7	4.558594	0.86231	.	.	ENSG00000134489	ENST00000256906;ENST00000426880	T;T	0.37915	1.17;1.17	5.67	5.67	0.87782	GPCR, rhodopsin-like superfamily (1);	0.124973	0.52532	D	0.000064	T	0.55721	0.1938	M	0.62088	1.915	0.58432	D	0.999993	D;D	0.71674	0.977;0.998	P;D	0.76575	0.78;0.988	T	0.51204	-0.8735	10	0.39692	T	0.17	-12.968	13.6811	0.62487	0.0:0.0:0.8458:0.1542	.	218;306	B2KJ48;Q9H3N8	.;HRH4_HUMAN	S	306;218	ENSP00000256906:A306S;ENSP00000402526:A218S	ENSP00000256906:A306S	A	+	1	0	HRH4	20311267	1.000000	0.71417	0.990000	0.47175	0.831000	0.47069	7.791000	0.85805	2.670000	0.90874	0.650000	0.86243	GCC		0.438	HRH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254904.1			63	88	1	0	5.80444e-35	1	6.44937e-35	63	88					T	22057269	G	T	22057269	3	4	190	1	0	0	0	0	1	0	0	0	7358	1203	42	5	926	5	HRH4	18	22057269	Missense_Mutation	SNP	G	TCGA-G9-A9S4-01A-11D-A41K-08	18801443	22057269	56019979	34	8884											
TUBB4	10382	broad.mit.edu	37	chr19	6495339	6495339	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagtgcaagaaggccttgcGccggaacatggccgtgaact	10	6	13	12	3	0	2	0	1	0	1	0	3	0	3	4	3	4	1	4	3	4	1			TCGA-G9-A9S4-01A-11D-A41K-08	TCGA-G9-A9S4-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d36ef053-e634-4711-9ee4-dac20b166856	3aac36e8-fe99-4218-9fb8-dba6dd6ea066	g.chr19:6495339G>A	ENST00000264071.2	-	4	1542	c.1171C>T	c.(1171-1173)Cgc>Tgc	p.R391C	TUBB4A_ENST00000540257.1_Missense_Mutation_p.R391C|CTD-2396E7.9_ENST00000599292.1_RNA|CTD-2396E7.10_ENST00000596027.1_RNA			P04350	TBB4A_HUMAN	tubulin, beta 4A class IVa	391					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based process (GO:0007017)|mitotic cell cycle (GO:0000278)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cilium (GO:0005929)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|internode region of axon (GO:0033269)|microtubule (GO:0005874)|myelin sheath (GO:0043209)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)	p.R391C(1)									AAGGCCTTGCGCCGGAACATG	0.612																																						ENST00000264071.2																			1	Substitution - Missense(1)	p.R391C(1)	ovary(1)								c.(1171-1173)Cgc>Tgc		tubulin, beta 4A class IVa							152	137	142					19																	6495339		2202	4280	6482	SO:0001583	missense	10382				'de novo' posttranslational protein folding|G2/M transition of mitotic cell cycle|microtubule-based movement|protein polymerization	cytosol|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity	g.chr19:6495339G>A	AK075307	CCDS12168.1	19p13.3	2014-02-05	2011-10-11	2011-10-10	ENSG00000104833	ENSG00000104833		"Tubulins"	20774	protein-coding gene	gene with protein product	"class IVa beta-tubulin"	602662	"tubulin, beta 4", "tubulin, beta 4 class IVa", "dystonia 4, torsion (autosomal dominant)"	TUBB4, DYT4		6865944, 6462917, 23595291	Standard	NM_001289123		Approved	beta-5	uc002mfg.1	P04350		ENST00000264071.2:c.1171C>T	19.37:g.6495339G>A	ENSP00000264071:p.Arg391Cys					TUBB4A_ENST00000540257.1_Missense_Mutation_p.R391C	p.R391C			P04350	TBB4_HUMAN			4	1542	-			391					B3KQP4|Q969E5	Missense_Mutation	SNP	ENST00000264071.2	37	c.1171C>T	CCDS12168.1	.	.	.	.	.	.	.	.	.	.	G	12.19	1.862900	0.32884	.	.	ENSG00000104833	ENST00000264071;ENST00000540257;ENST00000412858	D;D	0.85861	-2.04;-2.04	3.43	3.43	0.39272	.	0.000000	0.64402	U	0.000001	D	0.94594	0.8258	H	0.97315	3.98	0.80722	D	1	D	0.89917	1.0	D	0.71184	0.972	D	0.96137	0.9097	10	0.87932	D	0	.	13.6752	0.62449	0.0:0.0:1.0:0.0	.	391	P04350	TBB4A_HUMAN	C	391;391;309	ENSP00000264071:R391C;ENSP00000443590:R391C	ENSP00000264071:R391C	R	-	1	0	TUBB4	6446339	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	9.690000	0.98676	1.473000	0.48159	0.306000	0.20318	CGC		0.612	TUBB4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457841.1	NM_006087		50	119	0	0	0	1	0	50	119					A	6495339	G	A	6495339	3	1	190	1	0	0	0	0	1	0	0	0	16755	1087	38	1	167	1	TUBB4	19	6495339	Missense_Mutation	SNP	G	TCGA-G9-A9S4-01A-11D-A41K-08		6495339	52633644	35	8885											
ZNF700	90592	broad.mit.edu	37	chr19	12060277	12060277	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctatgaatgtaaggaatgtGggaaagccttcagatatgtg	13	11	12	5	0	1	2	1	1	0	1	1	4	1	4	2	2	1	1	2	2	6	4			TCGA-G9-A9S4-01A-11D-A41K-08	TCGA-G9-A9S4-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d36ef053-e634-4711-9ee4-dac20b166856	3aac36e8-fe99-4218-9fb8-dba6dd6ea066	g.chr19:12060277G>C	ENST00000254321.5	+	4	1581	c.1438G>C	c.(1438-1440)Ggg>Cgg	p.G480R	ZNF763_ENST00000591944.1_Intron|ZNF763_ENST00000590798.1_Intron|CTD-2006C1.12_ENST00000586394.1_RNA|ZNF700_ENST00000482090.1_Missense_Mutation_p.G462R|ZNF763_ENST00000538752.1_Intron	NM_001271848.1|NM_144566.1	NP_001258777.1|NP_653167.1	Q9H0M5	ZN700_HUMAN	zinc finger protein 700	480					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)		ZNF700/MAST1_ENST00000251472(2)	breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|pancreas(1)|prostate(1)|urinary_tract(1)	33						TAAGGAATGTGGGAAAGCCTT	0.408																																						ENST00000482090.1																		ZNF700/MAST1_ENST00000251472(2)	0				breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|pancreas(1)|prostate(1)|urinary_tract(1)	33						c.(1384-1386)Ggg>Cgg		zinc finger protein 700							74	75	75					19																	12060277		2203	4300	6503	SO:0001583	missense	90592				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12060277G>C	AL136732	CCDS32915.1, CCDS74289.1	19p13.2	2013-01-08			ENSG00000196757	ENSG00000196757		"Zinc fingers, C2H2-type", "-"	25292	protein-coding gene	gene with protein product							Standard	NM_144566		Approved	DKFZp434I1610	uc031rjk.1	Q9H0M5	OTTHUMG00000156421	ENST00000254321.5:c.1438G>C	19.37:g.12060277G>C	ENSP00000254321:p.Gly480Arg					ZNF763_ENST00000591944.1_Intron|ZNF700_ENST00000254321.5_Missense_Mutation_p.G480R|ZNF763_ENST00000590798.1_Intron|CTD-2006C1.12_ENST00000586394.1_RNA|ZNF763_ENST00000538752.1_Intron	p.G462R			Q9H0M5	ZN700_HUMAN			3	1802	+			480					B9EGU4	Missense_Mutation	SNP	ENST00000254321.5	37	c.1384G>C	CCDS32915.1	.	.	.	.	.	.	.	.	.	.	g	14.11	2.436963	0.43224	.	.	ENSG00000196757	ENST00000254321	T	0.58506	0.33	0.606	-0.907	0.10521	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.67804	0.2932	M	0.67700	2.07	0.24123	N	0.995797	D	0.76494	0.999	D	0.73708	0.981	T	0.57046	-0.7878	9	0.72032	D	0.01	.	6.354	0.21390	0.2118:0.0:0.7882:0.0	.	480	Q9H0M5	ZN700_HUMAN	R	480	ENSP00000254321:G480R	ENSP00000254321:G480R	G	+	1	0	ZNF700	11921277	0.988000	0.35896	0.006000	0.13384	0.378000	0.30076	2.707000	0.47143	-0.340000	0.08388	0.195000	0.17529	GGG		0.408	ZNF700-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344126.2	NM_144566		31	49	0	0	0	1	0	31	49					C	12060277	G	C	12060277	3	2	190	1	0	0	0	0	1	0	0	0	18101	1348	47	5	1452	5	ZNF700	19	12060277	Missense_Mutation	SNP	G	TCGA-G9-A9S4-01A-11D-A41K-08	5564938	12060277	47068706	36	8886											
ZNF682	91120	broad.mit.edu	37	chr19	20117285	20117293	+	In_Frame_Del	DEL	TTTATAGGG	TTTATAGGG	-																															gctttgccacattcttcacaTttatagggtttctctcccgt																								rs193056478	byFrequency	TCGA-G9-A9S4-01A-11D-A41K-08	TCGA-G9-A9S4-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d36ef053-e634-4711-9ee4-dac20b166856	3aac36e8-fe99-4218-9fb8-dba6dd6ea066	g.chr19:20117285_20117293delTTTATAGGG	ENST00000397165.2	-	4	1178_1186	c.1018_1026delCCCTATAAA	c.(1018-1026)ccctataaadel	p.PYK340del	ZNF682_ENST00000596019.1_Intron|ZNF682_ENST00000597972.1_In_Frame_Del_p.PYK346del|ZNF682_ENST00000358523.5_In_Frame_Del_p.PYK308del|ZNF682_ENST00000595736.1_In_Frame_Del_p.PYK264del|ZNF682_ENST00000397162.1_In_Frame_Del_p.PYK308del	NM_033196.2	NP_149973.1	O95780	ZN682_HUMAN	zinc finger protein 682	340					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1)	14						ATTCTTCACATTTATAGGGTTTCTCTCCC	0.378																																						ENST00000397165.2																			0				endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1)	14						c.(1018-1026)del		zinc finger protein 682																																				SO:0001651	inframe_deletion	91120				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:20117285_20117293delTTTATAGGG	AC006539	CCDS42533.1, CCDS42534.1	19p12	2014-02-13			ENSG00000197124	ENSG00000197124		"Zinc fingers, C2H2-type", "-"	28857	protein-coding gene	gene with protein product							Standard	NM_033196		Approved	BC39498_3	uc002noq.3	O95780	OTTHUMG00000182650	ENST00000397165.2:c.1018_1026delCCCTATAAA	19.37:g.20117285_20117293delTTTATAGGG	ENSP00000380351:p.Pro340_Lys342del					ZNF682_ENST00000397162.1_In_Frame_Del_p.PYK308del|ZNF682_ENST00000597972.1_In_Frame_Del_p.PYK346del|ZNF682_ENST00000596019.1_Intron|ZNF682_ENST00000595736.1_In_Frame_Del_p.PYK264del|ZNF682_ENST00000358523.5_In_Frame_Del_p.PYK308del	p.PYK340del	NM_033196.2	NP_149973.1	O95780	ZN682_HUMAN			4	1178_1186	-			340					B3KU64|E9PFJ5|Q96JV9	In_Frame_Del	DEL	ENST00000397165.2	37	c.1018_1026delCCCTATAAA	CCDS42533.1																																																																																				0.378	ZNF682-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462888.1	NM_033196		15	66						15	66	---	---	---	---	-	20117293	TTTATAGGG	-	20117285	7	5	190	1	0	1	0	1	0	0	0	0	18086	1490	52	0	474	0	ZNF682	19	20117285	In_Frame_Del	DEL	TTTATAGGG	TCGA-G9-A9S4-01A-11D-A41K-08	8057008	20117285	39011698	37	8887											
CLDND2	125875	broad.mit.edu	37	chr19	51871170	51871170	+	Frame_Shift_Del	DEL	G	G	-																															gaggaaggcgctcgtggtctGgccccgcagcgactcgccct																										TCGA-G9-A9S4-01A-11D-A41K-08	TCGA-G9-A9S4-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d36ef053-e634-4711-9ee4-dac20b166856	3aac36e8-fe99-4218-9fb8-dba6dd6ea066	g.chr19:51871170delG	ENST00000291715.1	-	2	705	c.280delC	c.(280-282)cagfs	p.Q94fs	ETFB_ENST00000309244.4_5'Flank|CLDND2_ENST00000601435.1_Frame_Shift_Del_p.Q94fs|CTD-2616J11.11_ENST00000600067.1_Frame_Shift_Del_p.Q29fs|CTD-2616J11.10_ENST00000595500.1_RNA	NM_152353.2	NP_689566.1	Q8NHS1	CLDN2_HUMAN	claudin domain containing 2	94						integral component of membrane (GO:0016021)				endometrium(1)|kidney(1)|large_intestine(2)	4		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000211)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		CTCGTGGTCTGGCCCCGCAGC	0.716																																						ENST00000291715.1																			0				endometrium(1)|kidney(1)|large_intestine(2)	4						c.(280-282)agfs		claudin domain containing 2							23	24	24					19																	51871170		2195	4298	6493	SO:0001589	frameshift_variant	125875					integral to membrane		g.chr19:51871170delG	BC029518	CCDS12829.1	19q13.41	2008-02-05				ENSG00000160318			28511	protein-coding gene	gene with protein product						12477932	Standard	NM_152353		Approved	MGC33839	uc002pwi.1	Q8NHS1		ENST00000291715.1:c.280delC	19.37:g.51871170delG	ENSP00000291715:p.Gln94fs					CTD-2616J11.11_ENST00000600067.1_Frame_Shift_Del_p.Q29fs|CLDND2_ENST00000601435.1_Frame_Shift_Del_p.Q94fs	p.Q94fs	NM_152353.2	NP_689566.1	Q8NHS1	CLDN2_HUMAN		GBM - Glioblastoma multiforme(134;0.000211)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)	2	705	-		all_neural(266;0.0199)	94						Frame_Shift_Del	DEL	ENST00000291715.1	37	c.280delC	CCDS12829.1																																																																																				0.716	CLDND2-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464268.1	NM_152353		7	12						7	12	---	---	---	---	-	51871170	G	-	51871170	7	5	190	1	0	1	0	1	0	0	0	0	3494	1357	47	0	235	0	CLDND2	19	51871170	Frame_Shift_Del	DEL	G	TCGA-G9-A9S4-01A-11D-A41K-08	31753885	51871170	7257813	38	8888											
GTPBP1	9567	broad.mit.edu	37	chr22	39112791	39112791	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acatgaaattgaatctggtcGcaccagcagtgtgggcaacg	12	8	12	9	2	1	2	0	2	1	0	2	2	1	2	1	2	2	3	1	2	3	1			TCGA-G9-A9S4-01A-11D-A41K-08	TCGA-G9-A9S4-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d36ef053-e634-4711-9ee4-dac20b166856	3aac36e8-fe99-4218-9fb8-dba6dd6ea066	g.chr22:39112791G>A	ENST00000216044.5	+	4	853	c.620G>A	c.(619-621)cGc>cAc	p.R207H		NM_004286.4	NP_004277.2	O00178	GTPB1_HUMAN	GTP binding protein 1	207	G2. {ECO:0000255|PROSITE- ProRule:PRU01059}.|tr-type G. {ECO:0000255|PROSITE- ProRule:PRU01059}.				GTP catabolic process (GO:0006184)|immune response (GO:0006955)|positive regulation of mRNA catabolic process (GO:0061014)|signal transduction (GO:0007165)	cytoplasmic exosome (RNase complex) (GO:0000177)|cytosol (GO:0005829)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)			endometrium(2)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	18	Melanoma(58;0.04)					GAATCTGGTCGCACCAGCAGT	0.567																																						ENST00000216044.5																			0				endometrium(2)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	18						c.(619-621)cGc>cAc		GTP binding protein 1							106	94	98					22																	39112791		2203	4300	6503	SO:0001583	missense	9567				immune response|positive regulation of mRNA catabolic process|signal transduction	cytoplasmic exosome (RNase complex)|cytosol	GTP binding|GTPase activity	g.chr22:39112791G>A	U87964	CCDS13977.2	22q13.1	2008-07-01			ENSG00000100226	ENSG00000100226			4669	protein-coding gene	gene with protein product		602245				9070279	Standard	XM_005261857		Approved	GP-1, HSPC018	uc003awg.3	O00178	OTTHUMG00000151002	ENST00000216044.5:c.620G>A	22.37:g.39112791G>A	ENSP00000216044:p.Arg207His						p.R207H	NM_004286.4	NP_004277.2	O00178	GTPB1_HUMAN			4	853	+	Melanoma(58;0.04)		207					Q6IC67	Missense_Mutation	SNP	ENST00000216044.5	37	c.620G>A	CCDS13977.2	.	.	.	.	.	.	.	.	.	.	G	34	5.308445	0.95629	.	.	ENSG00000100226	ENST00000216044;ENST00000484657	T;T	0.70631	-0.5;-0.5	5.05	5.05	0.67936	Protein synthesis factor, GTP-binding (1);	0.000000	0.85682	D	0.000000	D	0.83229	0.5209	M	0.93420	3.415	0.80722	D	1	P	0.47191	0.891	P	0.47376	0.545	D	0.88567	0.3127	10	0.87932	D	0	.	18.4028	0.90522	0.0:0.0:1.0:0.0	.	207	O00178	GTPB1_HUMAN	H	207;126	ENSP00000216044:R207H;ENSP00000442881:R126H	ENSP00000216044:R207H	R	+	2	0	GTPBP1	37442737	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.701000	0.98710	2.321000	0.78463	0.551000	0.68910	CGC		0.567	GTPBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075532.1	NM_004286		13	41	0	0	0	1	0	13	41					A	39112791	G	A	39112791	3	1	190	1	0	0	0	0	1	0	0	0	6878	1087	38	1	634	1	GTPBP1	22	39112791	Missense_Mutation	SNP	G	TCGA-G9-A9S4-01A-11D-A41K-08		39112791	12191775	39	8889											
CYLC1	1538	broad.mit.edu	37	chrX	83129065	83129065	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tactgatgctgactctgaacCgaagggagattcaaaaaagg	15	8	11	7	1	2	4	1	3	1	1	2	6	2	4	1	2	3	1	1	2	6	2	rs375048079		TCGA-G9-A9S4-01A-11D-A41K-08	TCGA-G9-A9S4-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d36ef053-e634-4711-9ee4-dac20b166856	3aac36e8-fe99-4218-9fb8-dba6dd6ea066	g.chrX:83129065C>T	ENST00000329312.4	+	4	1386	c.1349C>T	c.(1348-1350)cCg>cTg	p.P450L		NM_021118.1	NP_066941.1	P35663	CYLC1_HUMAN	cylicin, basic protein of sperm head cytoskeleton 1	450					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	acrosomal matrix (GO:0043159)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			NS(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	58						GACTCTGAACCGAAGGGAGAT	0.338																																						ENST00000329312.4																			0				NS(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	58						c.(1348-1350)cCg>cTg		cylicin, basic protein of sperm head cytoskeleton 1		C	LEU/PRO	2,3829		0,1,1,1630,568	25	22	23		1349	3.8	1	X		23	0,6724		0,0,0,2427,1870	no	missense	CYLC1	NM_021118.1	98	0,1,1,4057,2438	TT,TC,T,CC,C		0.0,0.0522,0.0189	probably-damaging	450/652	83129065	2,10553	2200	4297	6497	SO:0001583	missense	1538				cell differentiation|multicellular organismal development|spermatogenesis	acrosomal matrix|cytoskeletal calyx	structural molecule activity	g.chrX:83129065C>T	Z22780	CCDS35341.1, CCDS75998.1	Xq21.1	2008-07-31			ENSG00000183035	ENSG00000183035			2582	protein-coding gene	gene with protein product	"cylicin 1"	300768				7737358, 8354692	Standard	NM_021118		Approved		uc004eei.2	P35663	OTTHUMG00000021922	ENST00000329312.4:c.1349C>T	X.37:g.83129065C>T	ENSP00000331556:p.Pro450Leu						p.P450L	NM_021118.1	NP_066941.1	P35663	CYLC1_HUMAN			4	1386	+			450					A0AVQ8|Q5JQQ9	Missense_Mutation	SNP	ENST00000329312.4	37	c.1349C>T	CCDS35341.1	.	.	.	.	.	.	.	.	.	.	c	8.559	0.877299	0.17395	5.22E-4	0.0	ENSG00000183035	ENST00000329312;ENST00000544771	T	0.21191	2.02	3.82	3.82	0.43975	.	.	.	.	.	T	0.13030	0.0316	N	0.22421	0.69	0.33486	D	0.588022	B;B	0.33904	0.431;0.431	B;B	0.26770	0.073;0.073	T	0.16217	-1.0410	9	0.56958	D	0.05	-0.0135	10.1594	0.42842	0.0:1.0:0.0:0.0	.	450;450	P35663;F5H4V5	CYLC1_HUMAN;.	L	450	ENSP00000331556:P450L	ENSP00000331556:P450L	P	+	2	0	CYLC1	83015721	0.997000	0.39634	0.984000	0.44739	0.010000	0.07245	0.509000	0.22707	2.153000	0.67306	0.600000	0.82982	CCG		0.338	CYLC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057371.1	NM_021118		9	3	0	0	0	1	0	9	3					T	83129065	C	T	83129065	3	4	190	1	0	0	0	0	1	0	0	0	4141	652	23	2	1363	2	CYLC1	23	83129065	Missense_Mutation	SNP	C	TCGA-G9-A9S4-01A-11D-A41K-08		83129065	72141495	40	8890											
PRKCZ	5590	broad.mit.edu	37	chr1	2077532	2077532	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	aggacgccgaccttccttccGaggagacagatggaagtagg	11	6	14	10	3	0	2	0	0	0	2	2	7	2	4	4	4	0	1	4	4	2	3			TCGA-G9-A9S7-01A-11D-A41K-08	TCGA-G9-A9S7-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e45d5e62-ce70-466d-b4b3-620d70c95651	0f1a5b46-d751-426a-917c-fac53a697f81	g.chr1:2077532G>C	ENST00000400921.2	+	4	753	c.70G>C	c.(70-72)Gag>Cag	p.E24Q	PRKCZ_ENST00000400920.1_Missense_Mutation_p.E24Q|RP5-892K4.1_ENST00000606533.1_RNA|PRKCZ_ENST00000479263.1_3'UTR	NM_001033581.1	NP_001028753.1	Q05513	KPCZ_HUMAN	protein kinase C, zeta	207	OPR.				actin cytoskeleton reorganization (GO:0031532)|activation of phospholipase D activity (GO:0031584)|activation of protein kinase B activity (GO:0032148)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|establishment of cell polarity (GO:0030010)|inflammatory response (GO:0006954)|insulin receptor signaling pathway (GO:0008286)|long-term memory (GO:0007616)|long-term synaptic potentiation (GO:0060291)|membrane hyperpolarization (GO:0060081)|microtubule cytoskeleton organization (GO:0000226)|negative regulation of apoptotic process (GO:0043066)|negative regulation of hydrolase activity (GO:0051346)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of peptidyl-tyrosine phosphorylation (GO:0050732)|negative regulation of protein complex assembly (GO:0031333)|neuron projection extension (GO:1990138)|peptidyl-serine phosphorylation (GO:0018105)|platelet activation (GO:0030168)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of glucose import (GO:0046326)|positive regulation of insulin receptor signaling pathway (GO:0046628)|positive regulation of interleukin-10 secretion (GO:2001181)|positive regulation of interleukin-13 secretion (GO:2000667)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of interleukin-5 secretion (GO:2000664)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of T-helper 2 cell cytokine production (GO:2000553)|positive regulation of T-helper 2 cell differentiation (GO:0045630)|protein heterooligomerization (GO:0051291)|protein kinase C signaling (GO:0070528)|protein localization to plasma membrane (GO:0072659)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)|transforming growth factor beta receptor signaling pathway (GO:0007179)|vesicle transport along microtubule (GO:0047496)	apical cortex (GO:0045179)|apical plasma membrane (GO:0016324)|axon hillock (GO:0043203)|cell junction (GO:0030054)|cell leading edge (GO:0031252)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|membrane raft (GO:0045121)|microtubule organizing center (GO:0005815)|myelin sheath abaxonal region (GO:0035748)|nuclear envelope (GO:0005635)|nuclear matrix (GO:0016363)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|tight junction (GO:0005923)	ATP binding (GO:0005524)|insulin receptor substrate binding (GO:0043560)|potassium channel regulator activity (GO:0015459)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(4)|endometrium(1)|large_intestine(5)|lung(5)|stomach(1)	18	all_cancers(77;0.000177)|all_epithelial(69;6.41e-05)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;1.14e-19)|all_lung(118;1.22e-08)|Lung NSC(185;1.24e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;2.96e-37)|OV - Ovarian serous cystadenocarcinoma(86;3.3e-23)|GBM - Glioblastoma multiforme(42;2.85e-08)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.00294)|BRCA - Breast invasive adenocarcinoma(365;0.00493)|STAD - Stomach adenocarcinoma(132;0.00669)|KIRC - Kidney renal clear cell carcinoma(229;0.0411)|Lung(427;0.213)	Tamoxifen(DB00675)	CCTTCCTTCCGAGGAGACAGA	0.582																																						ENST00000400921.2																			0				breast(2)|central_nervous_system(4)|endometrium(1)|large_intestine(5)|lung(5)|stomach(1)	18						c.(70-72)Gag>Cag		protein kinase C, zeta							94	71	79					1																	2077532		2203	4300	6503	SO:0001583	missense	5590				anti-apoptosis|intracellular signal transduction|negative regulation of insulin receptor signaling pathway|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of protein complex assembly|peptidyl-serine phosphorylation|platelet activation	endosome	ATP binding|protein kinase C activity|zinc ion binding	g.chr1:2077532G>C	BC014270	CCDS37.1, CCDS41229.1, CCDS55563.1	1p36.33-p36.2	2009-07-10			ENSG00000067606	ENSG00000067606	2.7.11.1		9412	protein-coding gene	gene with protein product		176982					Standard	NM_001242874		Approved	PKC2	uc001aiq.3	Q05513	OTTHUMG00000001238	ENST00000400921.2:c.70G>C	1.37:g.2077532G>C	ENSP00000383712:p.Glu24Gln					PRKCZ_ENST00000479263.1_3'UTR|PRKCZ_ENST00000400920.1_Missense_Mutation_p.E24Q	p.E24Q	NM_001033581.1	NP_001028753.1	Q05513	KPCZ_HUMAN		Epithelial(90;2.96e-37)|OV - Ovarian serous cystadenocarcinoma(86;3.3e-23)|GBM - Glioblastoma multiforme(42;2.85e-08)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.00294)|BRCA - Breast invasive adenocarcinoma(365;0.00493)|STAD - Stomach adenocarcinoma(132;0.00669)|KIRC - Kidney renal clear cell carcinoma(229;0.0411)|Lung(427;0.213)	4	753	+	all_cancers(77;0.000177)|all_epithelial(69;6.41e-05)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;1.14e-19)|all_lung(118;1.22e-08)|Lung NSC(185;1.24e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)	207			OPR.		A8K4N0|A8MU64|B7Z2J7|E9PCW2|Q15207|Q5SYT5|Q969S4	Missense_Mutation	SNP	ENST00000400921.2	37	c.70G>C	CCDS41229.1	.	.	.	.	.	.	.	.	.	.	G	13.16	2.154440	0.38021	.	.	ENSG00000067606	ENST00000378567;ENST00000468310;ENST00000400921;ENST00000461106;ENST00000470596;ENST00000496325;ENST00000482686;ENST00000400920;ENST00000486681;ENST00000470986;ENST00000470511;ENST00000471018;ENST00000466352;ENST00000497183	T;D;T;T;T;T;T;T;T	0.88975	-0.34;-2.45;-0.25;-0.36;1.38;-0.25;0.22;0.81;0.82	5.04	5.04	0.67666	.	0.056301	0.64402	D	0.000002	T	0.80065	0.4555	N	0.08118	0	0.80722	D	1	P;P;B	0.44877	0.768;0.845;0.317	B;B;B	0.42692	0.395;0.317;0.091	T	0.79543	-0.1760	10	0.18710	T	0.47	.	17.3593	0.87345	0.0:0.0:1.0:0.0	.	103;31;207	E9PCW2;B3KUN5;Q05513	.;.;KPCZ_HUMAN	Q	207;177;24;103;24;24;24;24;20;24;24;24;24;20	ENSP00000367830:E207Q;ENSP00000424945:E177Q;ENSP00000383712:E24Q;ENSP00000426412:E103Q;ENSP00000424228:E24Q;ENSP00000383711:E24Q;ENSP00000424763:E20Q;ENSP00000421219:E24Q;ENSP00000422764:E20Q	ENSP00000367830:E207Q	E	+	1	0	PRKCZ	2067392	1.000000	0.71417	0.871000	0.34182	0.884000	0.51177	8.484000	0.90445	2.348000	0.79779	0.462000	0.41574	GAG		0.582	PRKCZ-009	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000098533.3	NM_002744		5	27	0	0	0	1	0	5	27					C	2077532	G	C	2077532	3	2	191	1	0	0	0	0	1	0	0	0	12517	1059	37	5	645	5	PRKCZ	1	2077532	Missense_Mutation	SNP	G	TCGA-G9-A9S7-01A-11D-A41K-08		2077532	247173089	1	8891											
UBR4	23352	broad.mit.edu	37	chr1	19474542	19474542	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	ggctggccagaaggctcttgGactgctgctggacactggca	7	8	15	11	0	1	1	0	0	1	1	1	3	1	3	1	6	2	5	1	6	1	1			TCGA-G9-A9S7-01A-11D-A41K-08	TCGA-G9-A9S7-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e45d5e62-ce70-466d-b4b3-620d70c95651	0f1a5b46-d751-426a-917c-fac53a697f81	g.chr1:19474542G>C	ENST00000375254.3	-	51	7601	c.7574C>G	c.(7573-7575)tCc>tGc	p.S2525C	UBR4_ENST00000375267.2_Missense_Mutation_p.S2525C|UBR4_ENST00000375226.2_Missense_Mutation_p.S2536C|UBR4_ENST00000375217.2_Missense_Mutation_p.S2525C	NM_020765.2	NP_065816.2	Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	2525					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		AAGGCTCTTGGACTGCTGCTG	0.567																																						ENST00000375267.2																			0				breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171						c.(7573-7575)tCc>tGc		ubiquitin protein ligase E3 component n-recognin 4							56	56	56					1																	19474542		2203	4300	6503	SO:0001583	missense	23352				interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr1:19474542G>C	AF348492	CCDS189.1	1p36.13	2008-06-23	2007-06-19	2007-06-19	ENSG00000127481	ENSG00000127481		"Ubiquitin protein ligase E3 component n-recognins"	30313	protein-coding gene	gene with protein product		609890	"zinc finger, UBR1 type 1"	ZUBR1		14702039, 10718198, 16055722	Standard	XM_005245802		Approved	KIAA1307, KIAA0462, RBAF600	uc001bbi.3	Q5T4S7	OTTHUMG00000002498	ENST00000375254.3:c.7574C>G	1.37:g.19474542G>C	ENSP00000364403:p.Ser2525Cys					UBR4_ENST00000375217.2_Missense_Mutation_p.S2525C|UBR4_ENST00000375226.2_Missense_Mutation_p.S2536C|UBR4_ENST00000375254.3_Missense_Mutation_p.S2525C	p.S2525C			Q5T4S7	UBR4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)	51	7577	-		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)	2525					A8MPT2|A8MQ33|A8MQB1|O60646|O75050|Q4QRK5|Q5T4S8|Q5T4S9|Q5TBN8|Q5TBP2|Q6DKH8|Q6P4A4|Q7L8P7|Q8IXJ4|Q8TDN5|Q8WV67|Q9HA46|Q9P2N9|Q9UG82	Missense_Mutation	SNP	ENST00000375254.3	37	c.7574C>G	CCDS189.1	.	.	.	.	.	.	.	.	.	.	G	19.92	3.916428	0.73098	.	.	ENSG00000127481	ENST00000375254;ENST00000375267;ENST00000375217;ENST00000375226;ENST00000425413;ENST00000417040	T;T;T;T	0.24538	1.89;1.89;1.89;1.85	5.66	5.66	0.87406	.	0.058881	0.64402	D	0.000003	T	0.20455	0.0492	N	0.14661	0.345	0.80722	D	1	B	0.28512	0.214	B	0.28011	0.085	T	0.06481	-1.0824	10	0.66056	D	0.02	.	19.7361	0.96205	0.0:0.0:1.0:0.0	.	2525	Q5T4S7	UBR4_HUMAN	C	2525;2525;2525;2536;140;1246	ENSP00000364403:S2525C;ENSP00000364416:S2525C;ENSP00000364365:S2525C;ENSP00000364374:S2536C	ENSP00000364365:S2525C	S	-	2	0	UBR4	19347129	1.000000	0.71417	1.000000	0.80357	0.917000	0.54804	9.476000	0.97823	2.677000	0.91161	0.305000	0.20034	TCC		0.567	UBR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007085.1	NM_020765		9	34	0	0	0	1	0	9	34					C	19474542	G	C	19474542	3	2	191	1	0	0	0	0	1	0	0	0	16901	1174	41	5	8201	5	UBR4	1	19474542	Missense_Mutation	SNP	G	TCGA-G9-A9S7-01A-11D-A41K-08	17397010	19474542	229776079	2	8892											
FAM43B	163933	broad.mit.edu	37	chr1	20880268	20880270	+	In_Frame_Del	DEL	GAG	GAG	-																															gcagcatccaggaggaggacGaggaggaggaggaggacgac																										TCGA-G9-A9S7-01A-11D-A41K-08	TCGA-G9-A9S7-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e45d5e62-ce70-466d-b4b3-620d70c95651	0f1a5b46-d751-426a-917c-fac53a697f81	g.chr1:20880268_20880270delGAG	ENST00000332947.4	+	1	1337_1339	c.802_804delGAG	c.(802-804)gagdel	p.E272del		NM_207334.2	NP_997217.1	Q6ZT52	FA43B_HUMAN	family with sequence similarity 43, member B	272										large_intestine(1)|lung(2)	3		Colorectal(325;0.000147)|Renal(390;0.000469)|Lung NSC(340;0.00412)|all_lung(284;0.00419)|Breast(348;0.00979)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|COAD - Colon adenocarcinoma(152;1.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000132)|Kidney(64;0.00016)|GBM - Glioblastoma multiforme(114;0.000399)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.195)		ggaggaggacgaggaggaggagg	0.744																																						ENST00000332947.4																			0				large_intestine(1)|lung(2)	3						c.(802-804)del		family with sequence similarity 43, member B				121,39,3262		29,0,63,5,29,1585						-0.4	1			5	4,54,6868		0,0,4,2,50,3407	no	codingComplex	FAM43B	NM_207334.2		29,0,67,7,79,4992	A1A1,A1A2,A1R,A2A2,A2R,RR		0.8374,4.6756,2.1067				125,93,10130				SO:0001651	inframe_deletion	163933							g.chr1:20880268_20880270delGAG	AK126900	CCDS209.1	1p36.12	2014-08-14			ENSG00000183114	ENSG00000183114			31791	protein-coding gene	gene with protein product						21461611	Standard	NM_207334		Approved	FLJ44952	uc001bdj.3	Q6ZT52	OTTHUMG00000057491	ENST00000332947.4:c.802_804delGAG	1.37:g.20880277_20880279delGAG	ENSP00000331397:p.Glu272del						p.E272del	NM_207334.2	NP_997217.1	Q6ZT52	FA43B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|COAD - Colon adenocarcinoma(152;1.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000132)|Kidney(64;0.00016)|GBM - Glioblastoma multiforme(114;0.000399)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.195)	1	1337_1339	+		Colorectal(325;0.000147)|Renal(390;0.000469)|Lung NSC(340;0.00412)|all_lung(284;0.00419)|Breast(348;0.00979)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)	272					A5PKT8|A5PL01	In_Frame_Del	DEL	ENST00000332947.4	37	c.802_804delGAG	CCDS209.1																																																																																				0.744	FAM43B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127759.1	NM_207334		3	3						3	3	---	---	---	---	-	20880270	GAG	-	20880268	7	5	191	1	0	1	0	1	0	0	0	0	5563	1059	37	0	804	0	FAM43B	1	20880268	In_Frame_Del	DEL	GAG	TCGA-G9-A9S7-01A-11D-A41K-08	1405726	20880268	228370353	3	8893											
WARS2	10352	broad.mit.edu	37	chr1	119575758	119575758	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcggcgcaccacttcctccaCggagagccccgtcaccgcgg	6	4	12	19	6	1	1	1	0	0	1	3	2	3	1	6	3	1	1	6	3	0	1	rs192289549	byFrequency	TCGA-G9-A9S7-01A-11D-A41K-08	TCGA-G9-A9S7-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e45d5e62-ce70-466d-b4b3-620d70c95651	0f1a5b46-d751-426a-917c-fac53a697f81	g.chr1:119575758C>T	ENST00000235521.4	-	6	885	c.859G>A	c.(859-861)Gtg>Atg	p.V287M	WARS2_ENST00000369426.5_3'UTR|WARS2_ENST00000537870.1_Missense_Mutation_p.V193M	NM_015836.3|NM_201263.2	NP_056651.1|NP_957715.1	Q9UGM6	SYWM_HUMAN	tryptophanyl tRNA synthetase 2, mitochondrial	287					gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)|tryptophanyl-tRNA aminoacylation (GO:0006436)|vasculogenesis (GO:0001570)	mitochondrial matrix (GO:0005759)	ATP binding (GO:0005524)|tryptophan-tRNA ligase activity (GO:0004830)			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(2)	15	all_neural(166;0.187)	all_lung(203;2.48e-06)|Lung NSC(69;1.74e-05)|all_epithelial(167;0.000564)		Lung(183;0.0629)	L-Tryptophan(DB00150)	ACTTCCTCCACGGAGAGCCCC	0.627													C|||	3	0.000599042	0	0	5008	,	,		15103	0.003		0	False		,,,				2504	0					ENST00000235521.4																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(2)	15						c.(859-861)Gtg>Atg		tryptophanyl tRNA synthetase 2, mitochondrial	L-Tryptophan(DB00150)						55	57	57					1																	119575758		2203	4300	6503	SO:0001583	missense	10352				tryptophanyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|tryptophan-tRNA ligase activity	g.chr1:119575758C>T	BC021722	CCDS900.1, CCDS30817.1	1p12	2011-07-01	2007-02-23		ENSG00000116874	ENSG00000116874	6.1.1.2	"Aminoacyl tRNA synthetases / Class I"	12730	protein-coding gene	gene with protein product	"tryptophan tRNA ligase 2, mitochondrial"	604733				10072595, 10828066	Standard	NM_201263		Approved	TrpRS	uc001ehn.3	Q9UGM6	OTTHUMG00000012335	ENST00000235521.4:c.859G>A	1.37:g.119575758C>T	ENSP00000235521:p.Val287Met					WARS2_ENST00000537870.1_Missense_Mutation_p.V193M|WARS2_ENST00000369426.5_3'UTR	p.V287M	NM_015836.3|NM_201263.2	NP_056651.1|NP_957715.1	Q9UGM6	SYWM_HUMAN		Lung(183;0.0629)	6	885	-	all_neural(166;0.187)	all_lung(203;2.48e-06)|Lung NSC(69;1.74e-05)|all_epithelial(167;0.000564)	287					B1ALR1|B2R9D4|Q53FT4|Q5VUD2|Q86TQ0	Missense_Mutation	SNP	ENST00000235521.4	37	c.859G>A	CCDS900.1	3	0.0013736263736263737	0	0.0	0	0.0	3	0.005244755244755245	0	0.0	C	13.31	2.200349	0.38905	.	.	ENSG00000116874	ENST00000235521;ENST00000537870	T;T	0.32988	1.43;1.43	5.87	3.99	0.46301	.	0.377377	0.29861	N	0.011015	T	0.10423	0.0255	L	0.31476	0.935	0.26339	N	0.977393	P;P	0.42039	0.64;0.769	B;B	0.40199	0.322;0.322	T	0.04767	-1.0928	10	0.42905	T	0.14	-11.397	9.7379	0.40399	0.0:0.7496:0.0:0.2504	.	230;287	B7Z6G7;Q9UGM6	.;SYWM_HUMAN	M	287;193	ENSP00000235521:V287M;ENSP00000438807:V193M	ENSP00000235521:V287M	V	-	1	0	WARS2	119377281	0.768000	0.28519	0.876000	0.34364	0.018000	0.09664	1.433000	0.34947	1.500000	0.48636	0.655000	0.94253	GTG		0.627	WARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034362.1	NM_015836		6	84	0	0	0	1	0	6	84					T	119575758	C	T	119575758	3	4	191	1	0	0	0	0	1	0	0	0	17247	536	19	1	227	1	WARS2	1	119575758	Missense_Mutation	SNP	C	TCGA-G9-A9S7-01A-11D-A41K-08	98695490	119575758	129674863	4	8894											
PAX8	7849	broad.mit.edu	37	chr2	114002103	114002103	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caaacatggtagggttctggCgtttgtagtccccaatcttc	8	13	10	10	1	2	0	0	0	2	0	4	0	3	0	2	3	1	4	2	3	4	5			TCGA-G9-A9S7-01A-11D-A41K-08	TCGA-G9-A9S7-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e45d5e62-ce70-466d-b4b3-620d70c95651	0f1a5b46-d751-426a-917c-fac53a697f81	g.chr2:114002103C>T	ENST00000429538.3	-	4	484	c.290G>A	c.(289-291)cGc>cAc	p.R97H	AC016683.6_ENST00000451179.1_RNA|AC016683.6_ENST00000436293.2_RNA|PAX8_ENST00000263334.5_Missense_Mutation_p.R97H|AC016683.6_ENST00000422956.2_RNA|PAX8_ENST00000397647.3_Missense_Mutation_p.R97H|PAX8_ENST00000263335.7_Missense_Mutation_p.R97H|AC016683.6_ENST00000333145.5_RNA|PAX8_ENST00000348715.5_Missense_Mutation_p.R97H|AC016683.6_ENST00000553869.2_RNA|AC016683.6_ENST00000445745.1_RNA|AC016683.6_ENST00000556070.1_RNA	NM_003466.3	NP_003457.1	Q06710	PAX8_HUMAN	paired box 8	97	Paired. {ECO:0000255|PROSITE- ProRule:PRU00381}.				anatomical structure morphogenesis (GO:0009653)|branching involved in ureteric bud morphogenesis (GO:0001658)|cellular response to gonadotropin stimulus (GO:0071371)|central nervous system development (GO:0007417)|inner ear morphogenesis (GO:0042472)|kidney development (GO:0001822)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|mesonephros development (GO:0001823)|metanephric comma-shaped body morphogenesis (GO:0072278)|metanephric distal convoluted tubule development (GO:0072221)|metanephric epithelium development (GO:0072207)|metanephric nephron tubule formation (GO:0072289)|metanephric S-shaped body morphogenesis (GO:0072284)|negative regulation of apoptotic process involved in metanephric collecting duct development (GO:1900215)|negative regulation of apoptotic process involved in metanephric nephron tubule development (GO:1900218)|negative regulation of mesenchymal cell apoptotic process involved in metanephric nephron morphogenesis (GO:0072305)|negative regulation of mesenchymal cell apoptotic process involved in metanephros development (GO:1900212)|otic vesicle development (GO:0071599)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0072108)|positive regulation of metanephric DCT cell differentiation (GO:2000594)|positive regulation of thyroid hormone generation (GO:2000611)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|pronephric field specification (GO:0039003)|pronephros development (GO:0048793)|regulation of apoptotic process (GO:0042981)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)|regulation of thyroid-stimulating hormone secretion (GO:2000612)|thyroid gland development (GO:0030878)|thyroid-stimulating hormone signaling pathway (GO:0038194)|transcription, DNA-templated (GO:0006351)|urogenital system development (GO:0001655)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|thyroid-stimulating hormone receptor activity (GO:0004996)|transcription regulatory region DNA binding (GO:0044212)		PAX8/PPARG(117)	breast(1)|endometrium(4)|kidney(2)|large_intestine(1)|liver(1)|lung(9)|ovary(1)|skin(1)	20						AGGGTTCTGGCGTTTGTAGTC	0.587			T	PPARG	follicular thyroid		Thyroid dysgenesis																														Ovarian(188;7 2067 9084 29802 29892)	ENST00000429538.3				Dom	yes		2	2q12-q14	7849	T	paired box gene 8	yes	Thyroid dysgenesis	E	PPARG		follicular thyroid	PAX8/PPARG(117)	0				breast(1)|endometrium(4)|kidney(2)|large_intestine(1)|liver(1)|lung(9)|ovary(1)|skin(1)	20						c.(289-291)cGc>cAc		paired box 8							185	203	197					2																	114002103		2193	4298	6491	SO:0001583	missense	7849				branching involved in ureteric bud morphogenesis|cellular response to gonadotropin stimulus|central nervous system development|mesenchymal to epithelial transition involved in metanephros morphogenesis|mesonephros development|metanephric collecting duct development|metanephric comma-shaped body morphogenesis|metanephric distal convoluted tubule development|metanephric nephron tubule formation|metanephric S-shaped body morphogenesis|negative regulation of mesenchymal stem cell apoptosis involved in metanephric nephron morphogenesis|otic vesicle development|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|positive regulation of metanephric DCT cell differentiation|positive regulation of thyroid hormone generation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|pronephric field specification|regulation of metanephric nephron tubule epithelial cell differentiation|regulation of thyroid-stimulating hormone secretion|thyroid gland development|transcription, DNA-dependent	nucleoplasm	protein binding|RNA polymerase II core promoter sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|thyroid-stimulating hormone receptor activity	g.chr2:114002103C>T	X69699	CCDS42735.1, CCDS42736.1, CCDS46398.1, CCDS46399.1	2q13	2011-06-20	2007-07-12		ENSG00000125618	ENSG00000125618		"Paired boxes", "Homeoboxes / PRD class"	8622	protein-coding gene	gene with protein product		167415	"paired box gene 8"			8431641, 7981748	Standard	NM_003466		Approved		uc010yxt.2	Q06710	OTTHUMG00000128529	ENST00000429538.3:c.290G>A	2.37:g.114002103C>T	ENSP00000395498:p.Arg97His					AC016683.6_ENST00000451179.1_RNA|AC016683.6_ENST00000445745.1_RNA|AC016683.6_ENST00000333145.5_RNA|AC016683.6_ENST00000422956.1_RNA|AC016683.6_ENST00000553869.2_RNA|PAX8_ENST00000263334.5_Missense_Mutation_p.R97H|PAX8_ENST00000348715.5_Missense_Mutation_p.R97H|AC016683.6_ENST00000556070.1_RNA|PAX8_ENST00000263335.7_Missense_Mutation_p.R97H|AC016683.6_ENST00000436293.2_RNA|PAX8_ENST00000397647.3_Missense_Mutation_p.R97H	p.R97H	NM_003466.3	NP_003457.1	Q06710	PAX8_HUMAN			4	484	-			97			Paired.		Q09155|Q16337|Q16338|Q16339|Q4ZG35|Q96J49	Missense_Mutation	SNP	ENST00000429538.3	37	c.290G>A	CCDS46398.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.410121	0.83340	.	.	ENSG00000125618	ENST00000263335;ENST00000397647;ENST00000348715;ENST00000429538;ENST00000263334	D;D;D;D;D	0.99479	-5.98;-5.98;-5.98;-5.98;-5.98	5.32	4.43	0.53597	Paired box protein, N-terminal (3);Winged helix-turn-helix transcription repressor DNA-binding (1);Homeodomain-like (1);	0.053373	0.64402	D	0.000001	D	0.99357	0.9774	M	0.70787	2.145	0.80722	D	1	P;D;D;P;P	0.89917	0.879;1.0;1.0;0.923;0.744	B;P;D;B;B	0.78314	0.126;0.881;0.991;0.171;0.171	D	0.98945	1.0792	10	0.87932	D	0	.	13.7248	0.62752	0.0:0.8443:0.1557:0.0	.	97;97;97;97;97	Q06710-2;Q06710-3;Q06710;Q06710-5;Q06710-4	.;.;PAX8_HUMAN;.;.	H	97	ENSP00000263335:R97H;ENSP00000380768:R97H;ENSP00000314750:R97H;ENSP00000395498:R97H;ENSP00000263334:R97H	ENSP00000263334:R97H	R	-	2	0	PAX8	113718573	1.000000	0.71417	0.857000	0.33713	0.951000	0.60555	4.973000	0.63763	1.224000	0.43551	0.655000	0.94253	CGC		0.587	PAX8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250353.5			7	240	0	0	0	1	0	7	240					T	114002103	C	T	114002103	3	4	191	1	0	0	0	0	1	0	0	0	11485	768	27	1	973	1	PAX8	2	114002103	Missense_Mutation	SNP	C	TCGA-G9-A9S7-01A-11D-A41K-08		114002103	129197270	5	8895											
HS6ST1	9394	broad.mit.edu	37	chr2	129026005	129026005	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacctccacgccgcccgcccGcgtgctattgtactgcatga	6	8	9	18	5	0	1	0	1	0	0	1	1	1	1	5	0	3	3	5	0	2	3			TCGA-G9-A9S7-01A-11D-A41K-08	TCGA-G9-A9S7-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e45d5e62-ce70-466d-b4b3-620d70c95651	0f1a5b46-d751-426a-917c-fac53a697f81	g.chr2:129026005G>A	ENST00000259241.6	-	2	980	c.967C>T	c.(967-969)Cgg>Tgg	p.R323W		NM_004807.2	NP_004798.3	O60243	H6ST1_HUMAN	heparan sulfate 6-O-sulfotransferase 1	323			R -> Q (in HH15; approximately 30% reduction in enzymatic activity compared to wild-type when heparan sulfate is the acceptor substrate). {ECO:0000269|PubMed:21700882}.		angiogenesis (GO:0001525)|carbohydrate metabolic process (GO:0005975)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process, enzymatic modification (GO:0015015)|labyrinthine layer blood vessel development (GO:0060716)|lung alveolus development (GO:0048286)|neuron development (GO:0048666)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)	heparan sulfate 6-O-sulfotransferase activity (GO:0017095)|sulfotransferase activity (GO:0008146)			endometrium(3)|liver(1)|lung(7)|pancreas(1)|prostate(2)|skin(1)	15	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.117)		CCGCCCGCCCGCGTGCTATTG	0.597																																						ENST00000259241.6																			0				endometrium(3)|liver(1)|lung(7)|pancreas(1)|prostate(2)|skin(1)	15						c.(967-969)Cgg>Tgg		heparan sulfate 6-O-sulfotransferase 1							40	43	42					2																	129026005		2139	4242	6381	SO:0001583	missense	9394				heparan sulfate proteoglycan biosynthetic process, enzymatic modification	integral to plasma membrane	sulfotransferase activity	g.chr2:129026005G>A	AB006179	CCDS42748.1	2q21	2010-03-19		2002-08-23	ENSG00000136720	ENSG00000136720		"Sulfotransferases, membrane-bound"	5201	protein-coding gene	gene with protein product		604846		HS6ST		9535912	Standard	NM_004807		Approved		uc002tpt.4	O60243	OTTHUMG00000153542	ENST00000259241.6:c.967C>T	2.37:g.129026005G>A	ENSP00000259241:p.Arg323Trp						p.R323W	NM_004807.2	NP_004798.3	O60243	H6ST1_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.117)	2	980	-	Colorectal(110;0.1)		323					B4DEP2|B4DJ29|Q53SL2|Q9BVI1	Missense_Mutation	SNP	ENST00000259241.6	37	c.967C>T	CCDS42748.1	.	.	.	.	.	.	.	.	.	.	G	13.67	2.305940	0.40795	.	.	ENSG00000136720	ENST00000259241	T	0.75704	-0.96	4.78	0.319	0.15873	.	0.000000	0.85682	D	0.000000	D	0.85435	0.5696	M	0.82323	2.585	0.45914	D	0.998751	D	0.89917	1.0	D	0.87578	0.998	D	0.86823	0.2006	9	.	.	.	-0.7289	15.6599	0.77178	0.0:0.0:0.4898:0.5102	.	323	O60243	H6ST1_HUMAN	W	323	ENSP00000259241:R323W	.	R	-	1	2	HS6ST1	128742475	0.984000	0.35163	0.445000	0.26908	0.471000	0.32888	1.780000	0.38634	0.417000	0.25871	-0.475000	0.04921	CGG		0.597	HS6ST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331572.1	NM_004807		8	22	0	0	0	1	0	8	22					A	129026005	G	A	129026005	3	1	191	1	0	0	0	0	1	0	0	0	7370	1086	38	1	272	1	HS6ST1	2	129026005	Missense_Mutation	SNP	G	TCGA-G9-A9S7-01A-11D-A41K-08	15023902	129026005	114173368	6	8896											
ADAM23	8745	broad.mit.edu	37	chr2	207436508	207436508	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccaacggggctcactgcagcGacgggccctgctgtaacaat	9	6	12	14	3	1	0	1	0	0	0	1	1	1	0	2	3	5	4	2	3	3	1	rs377327401		TCGA-G9-A9S7-01A-11D-A41K-08	TCGA-G9-A9S7-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e45d5e62-ce70-466d-b4b3-620d70c95651	0f1a5b46-d751-426a-917c-fac53a697f81	g.chr2:207436508G>A	ENST00000264377.3	+	17	1952	c.1624G>A	c.(1624-1626)Gac>Aac	p.D542N	ADAM23_ENST00000374416.1_Missense_Mutation_p.D542N|ADAM23_ENST00000374415.3_Missense_Mutation_p.D542N	NM_003812.2	NP_003803.1	O75077	ADA23_HUMAN	ADAM metallopeptidase domain 23	542	Disintegrin. {ECO:0000255|PROSITE- ProRule:PRU00068}.				cell adhesion (GO:0007155)|central nervous system development (GO:0007417)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(2)|breast(1)|endometrium(6)|kidney(3)|large_intestine(5)|liver(2)|lung(22)|ovary(2)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	51				LUSC - Lung squamous cell carcinoma(261;0.0961)|Lung(261;0.182)|Epithelial(149;0.205)		TCACTGCAGCGACGGGCCCTG	0.443																																					Melanoma(194;1127 2130 19620 24042 27855)	ENST00000264377.3																			0				NS(2)|breast(1)|endometrium(6)|kidney(3)|large_intestine(5)|liver(2)|lung(22)|ovary(2)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	51						c.(1624-1626)Gac>Aac		ADAM metallopeptidase domain 23		G	ASN/ASP	1,4405	2.1+/-5.4	0,1,2202	129	122	124		1624	6.2	0.9	2		124	0,8600		0,0,4300	no	missense	ADAM23	NM_003812.2	23	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	542/833	207436508	1,13005	2203	4300	6503	SO:0001583	missense	8745				cell adhesion|central nervous system development|proteolysis	extracellular region|integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding	g.chr2:207436508G>A	AB009672	CCDS2369.1	2q33	2008-06-12	2005-08-18		ENSG00000114948	ENSG00000114948		"ADAM metallopeptidase domain containing"	202	protein-coding gene	gene with protein product		603710	"a disintegrin and metalloproteinase domain 23"			9693107	Standard	NM_003812		Approved	MDC3	uc002vbq.4	O75077	OTTHUMG00000132919	ENST00000264377.3:c.1624G>A	2.37:g.207436508G>A	ENSP00000264377:p.Asp542Asn					ADAM23_ENST00000374416.1_Missense_Mutation_p.D542N|ADAM23_ENST00000374415.3_Missense_Mutation_p.D542N	p.D542N	NM_003812.2	NP_003803.1	O75077	ADA23_HUMAN		LUSC - Lung squamous cell carcinoma(261;0.0961)|Lung(261;0.182)|Epithelial(149;0.205)	17	1952	+			542			Disintegrin.		A2RU59	Missense_Mutation	SNP	ENST00000264377.3	37	c.1624G>A	CCDS2369.1	.	.	.	.	.	.	.	.	.	.	G	17.03	3.283364	0.59867	2.27E-4	0.0	ENSG00000114948	ENST00000264377;ENST00000374416;ENST00000431817;ENST00000374415	T;T;T	0.10860	2.83;2.83;2.83	6.16	6.16	0.99307	Blood coagulation inhibitor, Disintegrin (5);	0.000000	0.64402	D	0.000004	T	0.07593	0.0191	N	0.11427	0.14	0.80722	D	1	B	0.32128	0.357	B	0.28385	0.089	T	0.44772	-0.9306	10	0.27082	T	0.32	.	19.6313	0.95704	0.0:0.0:1.0:0.0	.	542	O75077	ADA23_HUMAN	N	542;542;436;542	ENSP00000264377:D542N;ENSP00000363537:D542N;ENSP00000363536:D542N	ENSP00000264377:D542N	D	+	1	0	ADAM23	207144753	1.000000	0.71417	0.934000	0.37439	0.579000	0.36224	5.286000	0.65639	2.937000	0.99478	0.650000	0.86243	GAC		0.443	ADAM23-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256431.2	NM_003812		11	24	0	0	0	1	0	11	24					A	207436508	G	A	207436508	3	1	191	1	0	0	0	0	1	0	0	0	245	1058	37	2	1690	2	ADAM23	2	207436508	Missense_Mutation	SNP	G	TCGA-G9-A9S7-01A-11D-A41K-08	78410503	207436508	35762865	7	8897											
DTX3L	151636	broad.mit.edu	37	chr3	122287807	122287807	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	caggtgacctggaagcagctCgtgagtcttttgctagtgaa	9	11	13	8	1	1	3	0	3	1	0	2	4	1	4	1	2	3	3	1	2	3	3			TCGA-G9-A9S7-01A-11D-A41K-08	TCGA-G9-A9S7-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e45d5e62-ce70-466d-b4b3-620d70c95651	0f1a5b46-d751-426a-917c-fac53a697f81	g.chr3:122287807C>T	ENST00000296161.4	+	3	1060	c.871C>T	c.(871-873)Cgt>Tgt	p.R291C	DTX3L_ENST00000383661.3_Intron	NM_138287.3	NP_612144.1	Q8TDB6	DTX3L_HUMAN	deltex 3 like, E3 ubiquitin ligase	291					cellular response to DNA damage stimulus (GO:0006974)|double-strand break repair (GO:0006302)|histone monoubiquitination (GO:0010390)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	histone binding (GO:0042393)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	24				GBM - Glioblastoma multiforme(114;0.0459)		GGAAGCAGCTCGTGAGTCTTT	0.403																																						ENST00000296161.4																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	24						c.(871-873)Cgt>Tgt		deltex 3-like (Drosophila)							45	47	46					3																	122287807		2202	4298	6500	SO:0001583	missense	151636				histone monoubiquitination|response to DNA damage stimulus	cytoplasm|nucleus	histone binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr3:122287807C>T		CCDS3015.1	3q21.1	2014-01-28	2014-01-28		ENSG00000163840	ENSG00000163840		"RING-type (C3HC4) zinc fingers"	30323	protein-coding gene	gene with protein product	"rhysin 2"	613143	"deltex 3-like (Drosophila)"			12670957, 22411408	Standard	NM_138287		Approved	BBAP	uc003efk.3	Q8TDB6	OTTHUMG00000159524	ENST00000296161.4:c.871C>T	3.37:g.122287807C>T	ENSP00000296161:p.Arg291Cys					DTX3L_ENST00000383661.3_Intron	p.R291C	NM_138287.3	NP_612144.1	Q8TDB6	DTX3L_HUMAN		GBM - Glioblastoma multiforme(114;0.0459)	3	1060	+			291					B3KWH6|Q53ZZ3|Q5MJP7	Missense_Mutation	SNP	ENST00000296161.4	37	c.871C>T	CCDS3015.1	.	.	.	.	.	.	.	.	.	.	C	15.49	2.848065	0.51164	.	.	ENSG00000163840	ENST00000296161	T	0.30448	1.53	5.52	0.599	0.17519	.	1.691690	0.03115	N	0.163054	T	0.20495	0.0493	N	0.25647	0.755	0.09310	N	1	B	0.17852	0.024	B	0.04013	0.001	T	0.15350	-1.0440	10	0.38643	T	0.18	-21.1681	1.983	0.03430	0.3939:0.3305:0.1277:0.1479	.	291	Q8TDB6	DTX3L_HUMAN	C	291	ENSP00000296161:R291C	ENSP00000296161:R291C	R	+	1	0	DTX3L	123770497	0.000000	0.05858	0.000000	0.03702	0.903000	0.53119	-0.146000	0.10250	-0.073000	0.12842	0.563000	0.77884	CGT		0.403	DTX3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355966.1	NM_138287		21	43	0	0	0	1	0	21	43					T	122287807	C	T	122287807	3	4	191	1	0	0	0	0	1	0	0	0	4796	884	31	2	881	2	DTX3L	3	122287807	Missense_Mutation	SNP	C	TCGA-G9-A9S7-01A-11D-A41K-08		122287807	75734623	8	8898											
DNAJC19	131118	broad.mit.edu	37	chr3	180703757	180703757	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ataattcgtcgatgagcatcTcttattttccctttattggc	8	18	6	9	2	1	1	0	1	1	0	5	2	2	1	1	1	1	1	1	1	3	8			TCGA-G9-A9S7-01A-11D-A41K-08	TCGA-G9-A9S7-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e45d5e62-ce70-466d-b4b3-620d70c95651	0f1a5b46-d751-426a-917c-fac53a697f81	g.chr3:180703757T>G	ENST00000382564.2	-	5	407	c.237A>C	c.(235-237)agA>agC	p.R79S	DNAJC19_ENST00000486355.1_3'UTR|DNAJC19_ENST00000479269.1_Missense_Mutation_p.R54S|DNAJC19_ENST00000491873.1_Missense_Mutation_p.R54S	NM_145261.3	NP_660304.1	Q96DA6	TIM14_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 19	79	J. {ECO:0000255|PROSITE- ProRule:PRU00286}.				cellular protein metabolic process (GO:0044267)|genitalia development (GO:0048806)|protein folding (GO:0006457)|protein targeting to mitochondrion (GO:0006626)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)				large_intestine(2)|lung(1)	3	all_cancers(143;3.12e-14)|Ovarian(172;0.0212)		Epithelial(37;3.05e-36)|OV - Ovarian serous cystadenocarcinoma(80;1.55e-22)			GATGAGCATCTCTTATTTTCC	0.338																																						ENST00000382564.2																			0				large_intestine(2)|lung(1)	3						c.(235-237)agA>agC		DnaJ (Hsp40) homolog, subfamily C, member 19							122	112	115					3																	180703757		2203	4299	6502	SO:0001583	missense	131118				genitalia development|protein folding|protein targeting to mitochondrion|transmembrane transport|visual perception	integral to membrane|mitochondrial inner membrane	heat shock protein binding	g.chr3:180703757T>G		CCDS33895.1, CCDS54684.1	3q26.33	2014-09-17			ENSG00000205981	ENSG00000205981		"Heat shock proteins / DNAJ (HSP40)"	30528	protein-coding gene	gene with protein product		608977				19564938	Standard	NM_145261		Approved	TIMM14, Tim14, Pam18	uc003fkt.3	Q96DA6	OTTHUMG00000158180	ENST00000382564.2:c.237A>C	3.37:g.180703757T>G	ENSP00000372005:p.Arg79Ser					DNAJC19_ENST00000486355.1_3'UTR|DNAJC19_ENST00000479269.1_Missense_Mutation_p.R54S|DNAJC19_ENST00000491873.1_Missense_Mutation_p.R54S	p.R79S	NM_145261.3	NP_660304.1	Q96DA6	TIM14_HUMAN	Epithelial(37;3.05e-36)|OV - Ovarian serous cystadenocarcinoma(80;1.55e-22)		5	407	-	all_cancers(143;3.12e-14)|Ovarian(172;0.0212)		79			J.		B2R4B1|C9JBV1	Missense_Mutation	SNP	ENST00000382564.2	37	c.237A>C	CCDS33895.1	.	.	.	.	.	.	.	.	.	.	T	16.14	3.038708	0.55003	.	.	ENSG00000205981	ENST00000382564;ENST00000491873;ENST00000479269	T;T;T	0.32023	1.47;1.47;1.47	5.87	0.451	0.16629	Heat shock protein DnaJ, N-terminal (5);	0.224065	0.53938	N	0.000051	T	0.32615	0.0835	M	0.81239	2.535	0.58432	D	0.99999	B	0.06786	0.001	B	0.12837	0.008	T	0.16867	-1.0388	10	0.41790	T	0.15	-9.7318	9.7962	0.40737	0.0:0.3007:0.0:0.6993	.	79	Q96DA6	TIM14_HUMAN	S	79;54;54	ENSP00000372005:R79S;ENSP00000420767:R54S;ENSP00000419191:R54S	ENSP00000372005:R79S	R	-	3	2	DNAJC19	182186451	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.226000	0.32563	0.154000	0.19237	0.528000	0.53228	AGA		0.338	DNAJC19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350336.1	NM_145261		12	19	0	0	0	1	0	12	19					G	180703757	T	G	180703757	3	3	191	1	0	0	0	0	1	0	0	0	4638	1548	54	5	121	5	DNAJC19	3	180703757	Missense_Mutation	SNP	T	TCGA-G9-A9S7-01A-11D-A41K-08	58415950	180703757	17318673	9	8899											
CLDN16	10686	broad.mit.edu	37	chr3	190122701	190122701	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgctttgttgctggagccaCgttactaatagcaggtaccg	8	12	11	10	2	0	0	0	0	0	0	0	1	0	1	2	2	6	6	2	2	4	6			TCGA-G9-A9S7-01A-11D-A41K-08	TCGA-G9-A9S7-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e45d5e62-ce70-466d-b4b3-620d70c95651	0f1a5b46-d751-426a-917c-fac53a697f81	g.chr3:190122701C>T	ENST00000264734.2	+	3	826	c.578C>T	c.(577-579)aCg>aTg	p.T193M	CLDN16_ENST00000468220.1_3'UTR|CLDN16_ENST00000456423.1_Intron	NM_006580.3	NP_006571.1	Q9Y5I7	CLD16_HUMAN	claudin 16	193					calcium-independent cell-cell adhesion (GO:0016338)|cellular metal ion homeostasis (GO:0006875)|excretion (GO:0007588)|magnesium ion transport (GO:0015693)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	identical protein binding (GO:0042802)|magnesium ion transmembrane transporter activity (GO:0015095)|structural molecule activity (GO:0005198)			breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|skin(1)	19	all_cancers(143;3.61e-10)|Ovarian(172;0.0991)		Lung(62;2.23e-05)|LUSC - Lung squamous cell carcinoma(58;3.15e-05)	GBM - Glioblastoma multiforme(93;0.018)		GCTGGAGCCACGTTACTAATA	0.527																																						ENST00000264734.2																			0				breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|skin(1)	19						c.(577-579)aCg>aTg		claudin 16							123	110	114					3																	190122701		2203	4300	6503	SO:0001583	missense	10686				calcium-independent cell-cell adhesion|cellular metal ion homeostasis|excretion	integral to membrane|tight junction	identical protein binding|magnesium ion transmembrane transporter activity|structural molecule activity	g.chr3:190122701C>T	AF152101	CCDS3296.1	3q28	2008-12-10			ENSG00000113946	ENSG00000113946		"Claudins"	2037	protein-coding gene	gene with protein product	"paracellin-1", "hypomagnesemia 3, with hypercalciuria and nephrocalcinosis"	603959				10390358	Standard	NM_006580		Approved	PCLN1, HOMG3	uc003fsi.3	Q9Y5I7	OTTHUMG00000156215	ENST00000264734.2:c.578C>T	3.37:g.190122701C>T	ENSP00000264734:p.Thr193Met					CLDN16_ENST00000456423.1_Intron|CLDN16_ENST00000468220.1_3'UTR	p.T193M	NM_006580.3	NP_006571.1	Q9Y5I7	CLD16_HUMAN	Lung(62;2.23e-05)|LUSC - Lung squamous cell carcinoma(58;3.15e-05)	GBM - Glioblastoma multiforme(93;0.018)	3	826	+	all_cancers(143;3.61e-10)|Ovarian(172;0.0991)		193						Missense_Mutation	SNP	ENST00000264734.2	37	c.578C>T	CCDS3296.1	.	.	.	.	.	.	.	.	.	.	C	9.843	1.191443	0.21954	.	.	ENSG00000113946	ENST00000264734	D	0.88818	-2.43	5.93	1.61	0.23674	.	0.568261	0.18276	N	0.146142	D	0.82793	0.5114	L	0.47716	1.5	0.09310	N	1	B	0.19817	0.039	B	0.16722	0.016	T	0.66748	-0.5845	10	0.21540	T	0.41	-16.3171	10.4629	0.44590	0.0:0.5799:0.0:0.4201	.	193	Q9Y5I7	CLD16_HUMAN	M	193	ENSP00000264734:T193M	ENSP00000264734:T193M	T	+	2	0	CLDN16	191605395	0.000000	0.05858	0.054000	0.19295	0.989000	0.77384	-0.014000	0.12656	0.393000	0.25203	0.655000	0.94253	ACG		0.527	CLDN16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343519.1	NM_006580		15	47	0	0	0	1	0	15	47					T	190122701	C	T	190122701	3	4	191	1	0	0	0	0	1	0	0	0	3477	536	19	1	588	1	CLDN16	3	190122701	Missense_Mutation	SNP	C	TCGA-G9-A9S7-01A-11D-A41K-08	9418944	190122701	7899729	10	8900											
NKD2	85409	broad.mit.edu	37	chr5	1038080	1038080	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tcggagcctgctgcccgggcCctggacacgcagccccggcc	4	4	14	19	4	0	0	0	0	0	0	1	2	0	2	6	4	4	2	6	4	0	0			TCGA-G9-A9S7-01A-11D-A41K-08	TCGA-G9-A9S7-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e45d5e62-ce70-466d-b4b3-620d70c95651	0f1a5b46-d751-426a-917c-fac53a697f81	g.chr5:1038080C>T	ENST00000296849.5	+	10	1177	c.948C>T	c.(946-948)gcC>gcT	p.A316A	NKD2_ENST00000274150.4_3'UTR|NKD2_ENST00000382730.2_Intron	NM_033120.3	NP_149111.1	Q969F2	NKD2_HUMAN	naked cuticle homolog 2 (Drosophila)	316	Interaction with TGFA.				exocytosis (GO:0006887)|Golgi vesicle fusion to target membrane (GO:0048210)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein processing (GO:0010954)|protein targeting to plasma membrane (GO:0072661)|Wnt signaling pathway (GO:0016055)	basolateral plasma membrane (GO:0016323)|cell periphery (GO:0071944)|cytoplasmic vesicle (GO:0031410)	calcium ion binding (GO:0005509)|growth factor binding (GO:0019838)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|central_nervous_system(3)|large_intestine(1)|lung(8)|pancreas(1)	14	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;3.28e-09)		Epithelial(17;0.00093)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00417)|Lung(60;0.165)			CTGCCCGGGCCCTGGACACGC	0.697																																						ENST00000296849.5																			0				breast(1)|central_nervous_system(3)|large_intestine(1)|lung(8)|pancreas(1)	14						c.(946-948)gcC>gcT		naked cuticle homolog 2 (Drosophila)							11	11	11					5																	1038080		2165	4232	6397	SO:0001819	synonymous_variant	85409				exocytosis|Wnt receptor signaling pathway	cytoplasmic membrane-bounded vesicle|plasma membrane	calcium ion binding|ubiquitin protein ligase binding	g.chr5:1038080C>T	AF358137	CCDS3859.1, CCDS59486.1	5p15.3	2013-01-10			ENSG00000145506	ENSG00000145506		"EF-hand domain containing"	17046	protein-coding gene	gene with protein product	"naked cuticle-2", "Dvl-binding protein NKD2"	607852				11356022, 11604995	Standard	NM_033120		Approved	Naked2	uc003jbt.2	Q969F2	OTTHUMG00000090348	ENST00000296849.5:c.948C>T	5.37:g.1038080C>T						NKD2_ENST00000274150.4_3'UTR|NKD2_ENST00000382730.2_Intron	p.A316A	NM_033120.2	NP_149111.1	Q969F2	NKD2_HUMAN	Epithelial(17;0.00093)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00417)|Lung(60;0.165)		10	1177	+	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;3.28e-09)		316			Interaction with TGFA.		Q96EK8|Q9BSN0	Silent	SNP	ENST00000296849.5	37	c.948C>T	CCDS3859.1																																																																																				0.697	NKD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206720.2	NM_033120		3	6	0	0	0	1	0	3	6					T	1038080	C	T	1038080	2	4	191	1	0	0	0	0	0	0	0	1	10442	610	22	3		3	NKD2	5	1038080	Silent	SNP	C	TCGA-G9-A9S7-01A-11D-A41K-08		1038080	179877180	11	8901											
PCDHA8	56140	broad.mit.edu	37	chr5	140223018	140223018	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtgtacctgatcatcgccatCtgcgcggtatccagcctgct	6	11	10	14	3	2	1	1	1	1	0	4	1	3	1	4	1	4	3	4	1	2	2			TCGA-G9-A9S7-01A-11D-A41K-08	TCGA-G9-A9S7-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e45d5e62-ce70-466d-b4b3-620d70c95651	0f1a5b46-d751-426a-917c-fac53a697f81	g.chr5:140223018C>G	ENST00000531613.1	+	1	2112	c.2112C>G	c.(2110-2112)atC>atG	p.I704M	PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA8_ENST00000378123.3_Missense_Mutation_p.I704M|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Intron	NM_018911.2	NP_061734.1	Q9Y5H6	PCDA8_HUMAN	protocadherin alpha 8	704					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(2)|breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(31)|ovary(2)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(6)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCATCGCCATCTGCGCGGTAT	0.657																																						ENST00000531613.1																			0				NS(2)|breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(31)|ovary(2)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(6)	78						c.(2110-2112)atC>atG									74	69	71					5																	140223018		2197	4265	6462	SO:0001583	missense	0							g.chr5:140223018C>G	AF152486	CCDS54919.1	5q31	2010-11-26				ENSG00000204962		"Cadherins / Protocadherins : Clustered"	8674	other	complex locus constituent	"KIAA0345-like 6"	606314				10380929	Standard	NM_018911		Approved			Q9Y5H6		ENST00000531613.1:c.2112C>G	5.37:g.140223018C>G	ENSP00000434655:p.Ile704Met					PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA8_ENST00000378123.3_Missense_Mutation_p.I704M	p.I704M	NM_018911.2	NP_061734.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2112	+								B9EGT7|O75281	Missense_Mutation	SNP	ENST00000531613.1	37	c.2112C>G	CCDS54919.1	.	.	.	.	.	.	.	.	.	.	C	12.48	1.950321	0.34377	.	.	ENSG00000204962	ENST00000531613;ENST00000378123	T;T	0.19938	2.11;2.11	3.06	-1.09	0.09904	.	0.000000	0.37348	U	0.002132	T	0.45677	0.1354	M	0.90369	3.11	0.23739	N	0.996973	D;D	0.76494	0.998;0.999	D;D	0.72982	0.91;0.979	T	0.31724	-0.9933	10	0.87932	D	0	.	8.4438	0.32830	0.0:0.5329:0.0:0.4671	.	704;704	Q9Y5H6;Q9Y5H6-2	PCDA8_HUMAN;.	M	704	ENSP00000434655:I704M;ENSP00000367363:I704M	ENSP00000367363:I704M	I	+	3	3	PCDHA8	140203202	0.000000	0.05858	0.997000	0.53966	0.357000	0.29423	-1.854000	0.01664	-0.150000	0.11195	0.460000	0.39030	ATC		0.657	PCDHA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372830.2	NM_018911		11	49	0	0	0	1	0	11	49					G	140223018	C	G	140223018	3	3	191	1	0	0	0	0	1	0	0	0	11530	903	32	5	2114	5	PCDHA8	5	140223018	Missense_Mutation	SNP	C	TCGA-G9-A9S7-01A-11D-A41K-08	139184938	140223018	40692242	12	8902											
PCDHGA7	56108	broad.mit.edu	37	chr5	140764756	140764756	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tctccctcaccgcggactctCggaagagtcacctgatcttc	7	10	8	16	3	5	2	2	1	3	1	8	4	5	4	3	2	0	0	3	2	1	1	rs368141492		TCGA-G9-A9S7-01A-11D-A41K-08	TCGA-G9-A9S7-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e45d5e62-ce70-466d-b4b3-620d70c95651	0f1a5b46-d751-426a-917c-fac53a697f81	g.chr5:140764756C>T	ENST00000518325.1	+	1	2290	c.2290C>T	c.(2290-2292)Cgg>Tgg	p.R764W	PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB4_ENST00000519479.1_5'Flank	NM_018920.2	NP_061743.1	Q9Y5G6	PCDG7_HUMAN	protocadherin gamma subfamily A, 7	764					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|biliary_tract(1)|endometrium(8)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|skin(1)|stomach(3)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGCGGACTCTCGGAAGAGTCA	0.542													.|||	1	0.000199681	0	0	5008	,	,		19059	0		0.001	False		,,,				2504	0					ENST00000518325.1																			0				NS(1)|biliary_tract(1)|endometrium(8)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|skin(1)|stomach(3)|urinary_tract(1)	49						c.(2290-2292)Cgg>Tgg									96	104	101					5																	140764756		2203	4300	6503	SO:0001583	missense	0							g.chr5:140764756C>T	AF152514	CCDS54927.1, CCDS75336.1	5q31	2010-01-26				ENSG00000253537		"Cadherins / Protocadherins : Clustered"	8705	other	protocadherin		606294				10380929	Standard	NM_018920		Approved	PCDH-GAMMA-A7		Q9Y5G6		ENST00000518325.1:c.2290C>T	5.37:g.140764756C>T	ENSP00000430024:p.Arg764Trp					PCDHGB3_ENST00000576222.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron	p.R764W	NM_018920.2	NP_061743.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2290	+								B2RN87|Q9Y5D0	Missense_Mutation	SNP	ENST00000518325.1	37	c.2290C>T	CCDS54927.1	.	.	.	.	.	.	.	.	.	.	.	7.624	0.677435	0.14841	.	.	ENSG00000253537	ENST00000518325	T	0.51574	0.7	4.73	-2.84	0.05751	.	.	.	.	.	T	0.55417	0.1919	M	0.91196	3.185	0.09310	N	1	B;D	0.55605	0.364;0.972	B;P	0.47744	0.082;0.556	T	0.53380	-0.8447	9	0.87932	D	0	.	4.658	0.12628	0.3347:0.2713:0.3274:0.0666	.	764;764	Q9Y5G6;Q9Y5G6-2	PCDG7_HUMAN;.	W	764	ENSP00000430024:R764W	ENSP00000430024:R764W	R	+	1	2	PCDHGA7	140744940	0.000000	0.05858	0.002000	0.10522	0.145000	0.21501	-0.548000	0.06048	-0.429000	0.07329	-0.302000	0.09304	CGG		0.542	PCDHGA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374744.1	NM_018920		30	100	0	0	0	1	0	30	100					T	140764756	C	T	140764756	3	4	191	1	0	0	0	0	1	0	0	0	11559	875	31	2	2292	2	PCDHGA7	5	140764756	Missense_Mutation	SNP	C	TCGA-G9-A9S7-01A-11D-A41K-08	541738	140764756	40150504	13	8903											
PPP2R2B	5521	broad.mit.edu	37	chr5	146080671	146080671	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgtcgctagtaattctccCgtgtggttgaattctaccgt	6	15	9	11	3	2	1	0	1	2	0	4	1	2	1	3	1	1	3	3	1	4	6			TCGA-G9-A9S7-01A-11D-A41K-08	TCGA-G9-A9S7-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e45d5e62-ce70-466d-b4b3-620d70c95651	0f1a5b46-d751-426a-917c-fac53a697f81	g.chr5:146080671C>T	ENST00000394413.3	-	2	675	c.105G>A	c.(103-105)acG>acA	p.T35T	PPP2R2B_ENST00000394410.2_Silent_p.T24T|PPP2R2B_ENST00000530902.1_5'UTR|PPP2R2B_ENST00000504198.1_Silent_p.T41T|PPP2R2B_ENST00000394409.3_Silent_p.T93T|PPP2R2B_ENST00000394411.4_Silent_p.T35T|PPP2R2B_ENST00000336640.6_Silent_p.T38T|PPP2R2B_ENST00000508545.2_Silent_p.T24T|PPP2R2B_ENST00000453001.1_Silent_p.T35T|PPP2R2B_ENST00000356826.3_Silent_p.T35T|PPP2R2B_ENST00000394414.1_Silent_p.T101T			Q00005	2ABB_HUMAN	protein phosphatase 2, regulatory subunit B, beta	35					apoptotic process (GO:0006915)|regulation of catalytic activity (GO:0050790)|signal transduction (GO:0007165)	cytoskeleton (GO:0005856)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|protein phosphatase type 2A complex (GO:0000159)	protein phosphatase type 2A regulator activity (GO:0008601)			endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(9)|ovary(1)|prostate(4)|skin(3)	32			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GTAATTCTCCCGTGTGGTTGA	0.423																																						ENST00000394413.3																			0				endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(9)|ovary(1)|prostate(4)|skin(3)	32						c.(103-105)acG>acA		protein phosphatase 2, regulatory subunit B, beta							268	278	275					5																	146080671		2203	4300	6503	SO:0001819	synonymous_variant	5521				apoptosis|signal transduction	cytoskeleton|mitochondrial outer membrane|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity	g.chr5:146080671C>T	M64930	CCDS4283.1, CCDS4284.1, CCDS43380.1, CCDS4284.2, CCDS64282.1	5q32	2013-01-10	2010-04-14		ENSG00000156475	ENSG00000156475	3.1.3.16	"Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits", "WD repeat domain containing"	9305	protein-coding gene	gene with protein product	"PP2A subunit B isoform beta"	604325	"spinocerebellar ataxia 12", "protein phosphatase 2 (formerly 2A), regulatory subunit B (PR 52), beta isoform", "protein phosphatase 2 (formerly 2A), regulatory subunit B, beta isoform"	SCA12		1849734, 10581021	Standard	NM_181674		Approved	PR55-BETA, PR52B	uc003log.5	Q00005	OTTHUMG00000163381	ENST00000394413.3:c.105G>A	5.37:g.146080671C>T						PPP2R2B_ENST00000530902.1_5'UTR|PPP2R2B_ENST00000394410.2_Silent_p.T24T|PPP2R2B_ENST00000453001.1_Silent_p.T35T|PPP2R2B_ENST00000394411.4_Silent_p.T35T|PPP2R2B_ENST00000504198.1_Silent_p.T41T|PPP2R2B_ENST00000394414.1_Silent_p.T101T|PPP2R2B_ENST00000336640.6_Silent_p.T38T|PPP2R2B_ENST00000394409.3_Silent_p.T93T|PPP2R2B_ENST00000508545.2_Silent_p.T24T|PPP2R2B_ENST00000356826.3_Silent_p.T35T	p.T35T			Q00005	2ABB_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		2	675	-			35					A6NEJ2|A8K102|B3KPD0|B7Z2F2|B7Z304|D3DQF7|D3DQF8|G3V149	Silent	SNP	ENST00000394413.3	37	c.105G>A	CCDS4284.1																																																																																				0.423	PPP2R2B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251893.2	NM_181678		8	302	0	0	0	1	0	8	302					T	146080671	C	T	146080671	2	4	191	1	0	0	0	0	0	0	0	1	12385	639	23	2		2	PPP2R2B	5	146080671	Silent	SNP	C	TCGA-G9-A9S7-01A-11D-A41K-08	5315915	146080671	34834589	14	8904											
GABRA6	2559	broad.mit.edu	37	chr5	161119058	161119058	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catagctgtttgctttgcatTcgtcttctctgcgcttatcg	4	18	8	11	3	2	0	0	0	2	0	5	0	2	0	0	0	4	5	0	0	2	6			TCGA-G9-A9S7-01A-11D-A41K-08	TCGA-G9-A9S7-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e45d5e62-ce70-466d-b4b3-620d70c95651	0f1a5b46-d751-426a-917c-fac53a697f81	g.chr5:161119058T>G	ENST00000274545.5	+	8	1371	c.938T>G	c.(937-939)tTc>tGc	p.F313C	RP11-348M17.2_ENST00000521984.1_RNA|GABRA6_ENST00000523217.1_Missense_Mutation_p.F303C			Q16445	GBRA6_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 6	313					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	benzodiazepine receptor activity (GO:0008503)|chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|liver(2)|lung(22)|ovary(7)|skin(6)|urinary_tract(2)	57	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Acamprosate(DB00659)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)	TGCTTTGCATTCGTCTTCTCT	0.478										TCGA Ovarian(5;0.080)																												ENST00000523217.1																			0				breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|liver(2)|lung(22)|ovary(7)|skin(6)|urinary_tract(2)	57						c.(907-909)tTc>tGc		gamma-aminobutyric acid (GABA) A receptor, alpha 6	Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)						175	145	155					5																	161119058		2203	4300	6503	SO:0001583	missense	2559				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity	g.chr5:161119058T>G		CCDS4356.1	5q34	2012-06-22			ENSG00000145863	ENSG00000145863		"GABA receptors", "Ligand-gated ion channels / GABA(A) receptors"	4080	protein-coding gene	gene with protein product	"GABA(A) receptor, alpha 6"	137143				8020978	Standard	NM_000811		Approved		uc003lyu.2	Q16445	OTTHUMG00000130351	ENST00000274545.5:c.938T>G	5.37:g.161119058T>G	ENSP00000274545:p.Phe313Cys	TCGA Ovarian(5;0.080)				GABRA6_ENST00000274545.5_Missense_Mutation_p.F313C	p.F303C	NM_000811.2	NP_000802.2	Q16445	GBRA6_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		8	1150	+	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	313					A8K096|Q4VAV2	Missense_Mutation	SNP	ENST00000274545.5	37	c.908T>G	CCDS4356.1	.	.	.	.	.	.	.	.	.	.	T	23.5	4.428661	0.83667	.	.	ENSG00000145863	ENST00000274545;ENST00000523217	D;D	0.86769	-2.17;-2.17	5.32	5.32	0.75619	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.135781	0.64402	D	0.000004	D	0.95446	0.8521	H	0.95780	3.72	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96797	0.9586	10	0.87932	D	0	.	15.2799	0.73773	0.0:0.0:0.0:1.0	.	313	Q16445	GBRA6_HUMAN	C	313;303	ENSP00000274545:F313C;ENSP00000430527:F303C	ENSP00000274545:F313C	F	+	2	0	GABRA6	161051636	1.000000	0.71417	0.978000	0.43139	0.990000	0.78478	7.946000	0.87746	1.997000	0.58415	0.528000	0.53228	TTC		0.478	GABRA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252707.2			4	90	0	0	0	1	0	4	90					G	161119058	T	G	161119058	3	3	191	1	0	0	0	0	1	0	0	0	6165	1783	62	5	968	5	GABRA6	5	161119058	Missense_Mutation	SNP	T	TCGA-G9-A9S7-01A-11D-A41K-08	15038387	161119058	19796202	15	8905											
FGF18	8817	broad.mit.edu	37	chr5	170876179	170876179	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctagtggagacagacaccttCggtagtcaagtccggatcaa	12	8	11	10	2	2	2	2	0	0	2	4	4	3	3	2	3	0	1	2	3	4	3	rs375630229		TCGA-G9-A9S7-01A-11D-A41K-08	TCGA-G9-A9S7-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e45d5e62-ce70-466d-b4b3-620d70c95651	0f1a5b46-d751-426a-917c-fac53a697f81	g.chr5:170876179C>T	ENST00000274625.5	+	4	823	c.279C>T	c.(277-279)ttC>ttT	p.F93F		NM_003862.2	NP_003853.1	O76093	FGF18_HUMAN	fibroblast growth factor 18	93					anatomical structure morphogenesis (GO:0009653)|angiogenesis (GO:0001525)|cell-cell signaling (GO:0007267)|chondrocyte development (GO:0002063)|endochondral ossification (GO:0001958)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|intramembranous ossification (GO:0001957)|lung development (GO:0030324)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|nucleolus (GO:0005730)	growth factor activity (GO:0008083)|type 1 fibroblast growth factor receptor binding (GO:0005105)|type 2 fibroblast growth factor receptor binding (GO:0005111)			endometrium(2)|large_intestine(1)|lung(4)|prostate(1)|skin(1)	9	Renal(175;0.000159)|Lung NSC(126;0.011)|all_lung(126;0.0175)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			CAGACACCTTCGGTAGTCAAG	0.517																																						ENST00000274625.5																			0				endometrium(2)|large_intestine(1)|lung(4)|prostate(1)|skin(1)	9						c.(277-279)ttC>ttT		fibroblast growth factor 18				0,4406		0,0,2203	109	91	97		279	2.4	1	5		97	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	FGF18	NM_003862.2		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		93/208	170876179	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	8817				cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|positive regulation of cell proliferation	extracellular space|nucleolus	growth factor activity|type 1 fibroblast growth factor receptor binding|type 2 fibroblast growth factor receptor binding	g.chr5:170876179C>T	AB007422	CCDS4378.1	5q34	2008-02-05			ENSG00000156427	ENSG00000156427			3674	protein-coding gene	gene with protein product		603726				9660775, 9742123	Standard	NM_003862		Approved	FGF-18, ZFGF5	uc003mbk.3	O76093	OTTHUMG00000130464	ENST00000274625.5:c.279C>T	5.37:g.170876179C>T							p.F93F	NM_003862.2	NP_003853.1	O76093	FGF18_HUMAN	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)		4	823	+	Renal(175;0.000159)|Lung NSC(126;0.011)|all_lung(126;0.0175)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	93					D3DQL7|Q6UWF1	Silent	SNP	ENST00000274625.5	37	c.279C>T	CCDS4378.1																																																																																				0.517	FGF18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252857.2	NM_033649, NM_003862		5	41	0	0	0	1	0	5	41					T	170876179	C	T	170876179	2	4	191	1	0	0	0	0	0	0	0	1	5846	883	31	2		2	FGF18	5	170876179	Silent	SNP	C	TCGA-G9-A9S7-01A-11D-A41K-08	9757121	170876179	10039081	16	8906											
TFAP2B	7021	broad.mit.edu	37	chr6	50805733	50805733	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tctttgcgagaaaggctagaAaaaatcggtttgaatttacc	14	12	9	6	2	1	3	0	1	1	2	2	4	1	3	1	2	2	2	1	2	7	5			TCGA-G9-A9S7-01A-11D-A41K-08	TCGA-G9-A9S7-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e45d5e62-ce70-466d-b4b3-620d70c95651	0f1a5b46-d751-426a-917c-fac53a697f81	g.chr6:50805733A>G	ENST00000393655.3	+	5	1036	c.867A>G	c.(865-867)gaA>gaG	p.E289E	TFAP2B_ENST00000263046.4_Silent_p.E298E	NM_003221.3	NP_003212.2	Q92481	AP2B_HUMAN	transcription factor AP-2 beta (activating enhancer binding protein 2 beta)	289					aorta morphogenesis (GO:0035909)|calcium ion homeostasis (GO:0055074)|cellular ammonia homeostasis (GO:0097275)|cellular creatinine homeostasis (GO:0097276)|cellular urea homeostasis (GO:0097277)|collecting duct development (GO:0072044)|distal tubule development (GO:0072017)|ductus arteriosus closure (GO:0097070)|fat cell differentiation (GO:0045444)|forelimb morphogenesis (GO:0035136)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|hindlimb morphogenesis (GO:0035137)|kidney development (GO:0001822)|magnesium ion homeostasis (GO:0010960)|metanephric nephron development (GO:0072210)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|phosphate ion homeostasis (GO:0055062)|positive regulation of cell proliferation (GO:0008284)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of urine volume (GO:0035810)|potassium ion homeostasis (GO:0055075)|regulation of BMP signaling pathway (GO:0030510)|regulation of cell differentiation (GO:0045595)|regulation of insulin secretion (GO:0050796)|regulation of transcription, DNA-templated (GO:0006355)|renal water homeostasis (GO:0003091)|response to drug (GO:0042493)|response to lithium ion (GO:0010226)|retina layer formation (GO:0010842)|skin development (GO:0043588)|sodium ion homeostasis (GO:0055078)|sympathetic nervous system development (GO:0048485)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|DNA binding (GO:0003677)|enhancer sequence-specific DNA binding (GO:0001158)|protein dimerization activity (GO:0046983)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity (GO:0000983)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)	40	Lung NSC(77;0.156)					AAAGGCTAGAAAAAATCGGTT	0.453																																					Pancreas(116;1373 2332 5475 10752)	ENST00000263046.4																			0				NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)	40						c.(892-894)gaA>gaG		transcription factor AP-2 beta (activating enhancer binding protein 2 beta)							91	97	95					6																	50805733		2203	4300	6503	SO:0001819	synonymous_variant	7021				nervous system development|positive regulation of transcription from RNA polymerase II promoter		protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chr6:50805733A>G	X95694	CCDS4934.2	6p12	2008-02-05	2001-11-28		ENSG00000008196	ENSG00000008196			11743	protein-coding gene	gene with protein product		601601	"transcription factor AP-2 beta (activating enhancer-binding protein 2 beta)"			7555706, 8661133	Standard	NM_003221		Approved	AP2-B	uc003pag.3	Q92481	OTTHUMG00000014836	ENST00000393655.3:c.867A>G	6.37:g.50805733A>G						TFAP2B_ENST00000393655.3_Silent_p.E289E	p.E298E			Q92481	AP2B_HUMAN			6	1060	+	Lung NSC(77;0.156)		289					Q5JYX6|Q9NQ63|Q9NU99|Q9UJI7|Q9Y214|Q9Y3K3	Silent	SNP	ENST00000393655.3	37	c.894A>G	CCDS4934.2																																																																																				0.453	TFAP2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040886.3	NM_003221		28	69	0	0	0	1	0	28	69					G	50805733	A	G	50805733	2	3	191	1	0	0	0	0	0	0	0	1	15785	11	1	4		4	TFAP2B	6	50805733	Silent	SNP	A	TCGA-G9-A9S7-01A-11D-A41K-08		50805733	120309334	17	8907											
PNRC1	10957	broad.mit.edu	37	chr6	89790855	89790855	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tccagcagctctgcccaaccGcagcctcgccgtggcgggag	6	5	13	17	4	1	0	0	0	1	0	3	1	2	1	5	2	5	3	5	2	1	0			TCGA-G9-A9S7-01A-11D-A41K-08	TCGA-G9-A9S7-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e45d5e62-ce70-466d-b4b3-620d70c95651	0f1a5b46-d751-426a-917c-fac53a697f81	g.chr6:89790855G>A	ENST00000336032.3	+	1	359	c.242G>A	c.(241-243)cGc>cAc	p.R81H	PNRC1_ENST00000354922.3_5'Flank|PNRC1_ENST00000369472.1_Intron|RP11-63L7.5_ENST00000606729.1_RNA	NM_006813.2	NP_006804.1	Q12796	PNRC1_HUMAN	proline-rich nuclear receptor coactivator 1	81					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				endometrium(1)|large_intestine(2)|lung(3)	6		all_cancers(76;3.64e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00527)		BRCA - Breast invasive adenocarcinoma(108;0.102)		CTGCCCAACCGCAGCCTCGCC	0.716										Multiple Myeloma(7;0.094)																												ENST00000336032.3																			0				endometrium(1)|large_intestine(2)|lung(3)	6						c.(241-243)cGc>cAc		proline-rich nuclear receptor coactivator 1							9	11	10					6																	89790855		2169	4268	6437	SO:0001583	missense	10957				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	g.chr6:89790855G>A	U03105	CCDS5018.1	6q16.1	2008-02-05	2003-09-25	2003-09-26	ENSG00000146278	ENSG00000146278			17278	protein-coding gene	gene with protein product		606714	"proline rich 2"	PROL2		7578250	Standard	NM_006813		Approved	B4-2, PRR2	uc003pmv.3	Q12796	OTTHUMG00000015191	ENST00000336032.3:c.242G>A	6.37:g.89790855G>A	ENSP00000336931:p.Arg81His	Multiple Myeloma(7;0.094)				PNRC1_ENST00000369472.1_Intron	p.R81H	NM_006813.2	NP_006804.1	Q12796	PNRC1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.102)	1	359	+		all_cancers(76;3.64e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00527)	81					B2R6Q0|E1P515|Q5T7J6|Q7Z5N0	Missense_Mutation	SNP	ENST00000336032.3	37	c.242G>A	CCDS5018.1	.	.	.	.	.	.	.	.	.	.	G	8.578	0.881714	0.17467	.	.	ENSG00000146278	ENST00000336032	T	0.44083	0.93	4.83	3.97	0.46021	.	0.557160	0.18801	N	0.130798	T	0.11410	0.0278	N	0.08118	0	0.41904	D	0.990439	B;P	0.44044	0.379;0.825	B;B	0.37780	0.121;0.258	T	0.04767	-1.0928	10	0.46703	T	0.11	0.2998	11.5239	0.50569	0.083:0.0:0.917:0.0	.	81;81	Q12796;Q7Z5N0	PNRC1_HUMAN;.	H	81	ENSP00000336931:R81H	ENSP00000336931:R81H	R	+	2	0	PNRC1	89847574	1.000000	0.71417	0.044000	0.18714	0.024000	0.10985	3.624000	0.54231	1.265000	0.44215	-0.266000	0.10368	CGC		0.716	PNRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041471.1	NM_006813		5	7	0	0	0	1	0	5	7					A	89790855	G	A	89790855	3	1	191	1	0	0	0	0	1	0	0	0	12174	1087	38	1	244	1	PNRC1	6	89790855	Missense_Mutation	SNP	G	TCGA-G9-A9S7-01A-11D-A41K-08	38985122	89790855	81324212	18	8908											
RBM16	22828	broad.mit.edu	37	chr6	155114092	155114092	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttttggccagcactaccactGctatgagcaatactccaggt	10	11	8	12	0	0	1	0	1	0	0	1	1	1	1	3	2	5	3	3	2	4	5			TCGA-G9-A9S7-01A-11D-A41K-08	TCGA-G9-A9S7-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e45d5e62-ce70-466d-b4b3-620d70c95651	0f1a5b46-d751-426a-917c-fac53a697f81	g.chr6:155114092G>C	ENST00000367178.3	+	5	1033	c.457G>C	c.(457-459)Gct>Cct	p.A153P	SCAF8_ENST00000367186.4_Missense_Mutation_p.A219P|SCAF8_ENST00000417268.1_Missense_Mutation_p.A153P	NM_014892.3	NP_055707.3	Q9UPN6	SCAF8_HUMAN	SR-related CTD-associated factor 8	153					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nuclear matrix (GO:0016363)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)|RNA polymerase core enzyme binding (GO:0043175)			breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(15)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	46						CACTACCACTGCTATGAGCAA	0.378																																						ENST00000367178.3																			0				breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(15)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	46						c.(457-459)Gct>Cct		SR-related CTD-associated factor 8							78	76	77					6																	155114092		2203	4300	6503	SO:0001583	missense	22828				mRNA processing|RNA splicing	nuclear matrix|spliceosomal complex	nucleotide binding|RNA binding|RNA polymerase core enzyme binding	g.chr6:155114092G>C	AB029039	CCDS5247.1, CCDS69226.1, CCDS75541.1	6q25.1-q25.3	2013-02-12	2011-01-10	2011-01-10	ENSG00000213079	ENSG00000213079		"RNA binding motif (RRM) containing"	20959	protein-coding gene	gene with protein product			"RNA binding motif protein 16"	RBM16		10470851	Standard	NM_001286189		Approved	KIAA1116	uc003qpz.3	Q9UPN6	OTTHUMG00000015877	ENST00000367178.3:c.457G>C	6.37:g.155114092G>C	ENSP00000356146:p.Ala153Pro					SCAF8_ENST00000417268.1_Missense_Mutation_p.A153P|SCAF8_ENST00000367186.4_Missense_Mutation_p.A219P	p.A153P	NM_014892.3	NP_055707.3	Q9UPN6	SCAF8_HUMAN			5	1033	+			153					B7Z888|Q5TBU6|Q6NSK3|Q9BQN8|Q9BX43	Missense_Mutation	SNP	ENST00000367178.3	37	c.457G>C	CCDS5247.1	.	.	.	.	.	.	.	.	.	.	G	11.77	1.736552	0.30774	.	.	ENSG00000213079	ENST00000367178;ENST00000417268;ENST00000367186	T;T;T	0.48522	0.81;0.81;0.82	4.56	2.63	0.31362	.	0.310569	0.29822	U	0.011108	T	0.08626	0.0214	N	0.02539	-0.55	0.40702	D	0.982499	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.01281	0.0;0.0;0.0;0.0	T	0.08289	-1.0729	10	0.29301	T	0.29	.	6.8296	0.23902	0.1507:0.0:0.695:0.1543	.	198;219;231;153	B7Z876;B7Z888;B7Z3A4;Q9UPN6	.;.;.;SCAF8_HUMAN	P	153;153;219	ENSP00000356146:A153P;ENSP00000413098:A153P;ENSP00000356154:A219P	ENSP00000356146:A153P	A	+	1	0	SCAF8	155155784	1.000000	0.71417	0.978000	0.43139	0.676000	0.39594	3.585000	0.53943	2.241000	0.73720	0.462000	0.41574	GCT		0.378	SCAF8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042798.1	NM_014892		5	15	0	0	0	1	0	5	15					C	155114092	G	C	155114092	3	2	191	1	0	0	0	0	1	0	0	0	13118	1319	46	5	475	5	RBM16	6	155114092	Missense_Mutation	SNP	G	TCGA-G9-A9S7-01A-11D-A41K-08	65323237	155114092	16000975	19	8909											
RSPH10B	728194	broad.mit.edu	37	chr7	6797531	6797531	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aagatgccagccaatacgaaGagtccattctgaccaaactc	15	7	7	12	1	1	3	0	1	1	2	3	4	2	3	4	0	4	0	4	0	5	2			TCGA-G9-A9S7-01A-11D-A41K-08	TCGA-G9-A9S7-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e45d5e62-ce70-466d-b4b3-620d70c95651	0f1a5b46-d751-426a-917c-fac53a697f81	g.chr7:6797531G>C	ENST00000403107.1	+	2	610	c.223G>C	c.(223-225)Gag>Cag	p.E75Q	RSPH10B2_ENST00000297186.3_Missense_Mutation_p.E75Q|RSPH10B2_ENST00000404077.1_Missense_Mutation_p.E75Q|RSPH10B2_ENST00000359718.3_5'UTR|RSPH10B2_ENST00000433859.2_Missense_Mutation_p.E75Q			B2RC85	R10B2_HUMAN	radial spoke head 10 homolog B2 (Chlamydomonas)	75										breast(3)|endometrium(1)|large_intestine(4)|lung(2)|ovary(2)|pancreas(1)|skin(2)	15						CCAATACGAAGAGTCCATTCT	0.468																																						ENST00000403107.1																			0				breast(3)|endometrium(1)|large_intestine(4)|lung(2)|ovary(2)|pancreas(1)|skin(2)	15						c.(223-225)Gag>Cag		radial spoke head 10 homolog B2 (Chlamydomonas)							184	203	197					7																	6797531		2169	4271	6440	SO:0001583	missense	728194							g.chr7:6797531G>C		CCDS43552.1	7p22.1	2008-07-04			ENSG00000169402	ENSG00000169402			34385	protein-coding gene	gene with protein product							Standard	NM_001099697		Approved		uc003sqw.1	B2RC85	OTTHUMG00000151856	ENST00000403107.1:c.223G>C	7.37:g.6797531G>C	ENSP00000384766:p.Glu75Gln					RSPH10B2_ENST00000359718.3_5'UTR|RSPH10B2_ENST00000297186.3_Missense_Mutation_p.E75Q|RSPH10B2_ENST00000404077.1_Missense_Mutation_p.E75Q|RSPH10B2_ENST00000433859.2_Missense_Mutation_p.E75Q	p.E75Q							2	610	+								A6NMW7|B2RXI4|B2RXJ0|Q86ST9|Q8NE68	Missense_Mutation	SNP	ENST00000403107.1	37	c.223G>C	CCDS43552.1	.	.	.	.	.	.	.	.	.	.	G	15.37	2.814212	0.50527	.	.	ENSG00000169402	ENST00000403107;ENST00000404077;ENST00000297186;ENST00000433859	T;T;T;T	0.56941	0.43;0.43;0.43;0.43	2.65	2.65	0.31530	.	0.173433	0.38111	N	0.001813	T	0.63757	0.2538	M	0.66939	2.045	0.80722	D	1	D	0.71674	0.998	P	0.61800	0.894	T	0.65471	-0.6160	10	0.46703	T	0.11	.	11.0959	0.48143	0.0:0.0:1.0:0.0	.	75	B2RC85	R10B2_HUMAN	Q	75	ENSP00000384766:E75Q;ENSP00000386102:E75Q;ENSP00000297186:E75Q;ENSP00000416710:E75Q	ENSP00000297186:E75Q	E	+	1	0	RSPH10B2	6764056	1.000000	0.71417	0.987000	0.45799	0.612000	0.37316	4.909000	0.63314	1.494000	0.48533	0.392000	0.25879	GAG		0.468	RSPH10B2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324184.4	NM_001099697		44	209	0	0	0	1	0	44	209					C	6797531	G	C	6797531	3	2	191	1	0	0	0	0	1	0	0	0	13703	943	33	5	2914	5	RSPH10B	7	6797531	Missense_Mutation	SNP	G	TCGA-G9-A9S7-01A-11D-A41K-08		6797531	152341132	20	8910											
ZAN	7455	broad.mit.edu	37	chr7	100350298	100350298	+	RNA	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	caccatctccacagaaaaacCcaccatccccacagaaaaac	18	3	2	18	0	1	2	0	0	1	2	3	2	2	2	6	0	2	0	6	0	4	0			TCGA-G9-A9S7-01A-11D-A41K-08	TCGA-G9-A9S7-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e45d5e62-ce70-466d-b4b3-620d70c95651	0f1a5b46-d751-426a-917c-fac53a697f81	g.chr7:100350298C>T	ENST00000348028.3	+	0	2735				ZAN_ENST00000542585.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000427578.1_RNA			Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida (GO:0007339)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			ACAGAAAAACCCACCATCCCC	0.498																																						ENST00000542585.1																			0				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139								zonadhesin (gene/pseudogene)							269	312	298					7																	100350298		1882	4119	6001			7455				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane		g.chr7:100350298C>T	U83191		7q22.1	2013-10-10	2013-10-10		ENSG00000146839	ENSG00000146839			12857	protein-coding gene	gene with protein product		602372	"zonadhesin"			9799793, 17033959	Standard	NM_003386		Approved		uc003uwk.3	Q9Y493	OTTHUMG00000157037		7.37:g.100350298C>T						ZAN_ENST00000427578.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000546213.1_RNA		NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	STAD - Stomach adenocarcinoma(171;0.19)		0	2718	+	Lung NSC(181;0.041)|all_lung(186;0.0581)							A0FKC8|D6W5W4|O00218|Q96L85|Q96L86|Q96L87|Q96L88|Q96L89|Q96L90|Q9BXN9|Q9BZ83|Q9BZ84|Q9BZ85|Q9BZ86|Q9BZ87|Q9BZ88	RNA	SNP	ENST00000348028.3	37			.	.	.	.	.	.	.	.	.	.	c	11.71	1.720754	0.30503	.	.	ENSG00000146839	ENST00000546292;ENST00000538115;ENST00000542585	T;T;T	0.62232	0.04;0.04;0.04	3.97	0.987	0.19790	.	0.553938	0.13699	N	0.368999	T	0.53158	0.1779	L	0.33485	1.01	0.09310	N	0.999996	P;B	0.44734	0.842;0.201	P;B	0.47645	0.553;0.148	T	0.44345	-0.9334	10	0.62326	D	0.03	.	5.9038	0.18982	0.0:0.6494:0.1584:0.1922	.	857;857	F5H0T8;Q9Y493	.;ZAN_HUMAN	L	857	ENSP00000445943:P857L;ENSP00000445091:P857L;ENSP00000444427:P857L	ENSP00000423579:P857L	P	+	2	0	ZAN	100188234	0.000000	0.05858	0.000000	0.03702	0.027000	0.11550	-0.014000	0.12656	0.065000	0.16485	-0.192000	0.12808	CCC		0.498	ZAN-006	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000347214.1	NM_003386		4	121	0	0	0	1	0	4	121					T	100350298	C	T	100350298	1	4	191	0	1	0	0	0	0	0	0	0	17510	623	22	3		3	ZAN	7	100350298	RNA	SNP	C	TCGA-G9-A9S7-01A-11D-A41K-08	93552767	100350298	58788365	21	8911											
LMOD2	442721	broad.mit.edu	37	chr7	123302916	123302918	+	In_Frame_Del	DEL	CCT	CCT	-																															ccacacctcctcctcctcccCctcctcctcctcctccccct																								rs546552479		TCGA-G9-A9S7-01A-11D-A41K-08	TCGA-G9-A9S7-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e45d5e62-ce70-466d-b4b3-620d70c95651	0f1a5b46-d751-426a-917c-fac53a697f81	g.chr7:123302916_123302918delCCT	ENST00000458573.2	+	2	1433_1435	c.1276_1278delCCT	c.(1276-1278)cctdel	p.P433del	LMOD2_ENST00000456238.2_Intron	NM_207163.1	NP_997046.1	Q6P5Q4	LMOD2_HUMAN	leiomodin 2 (cardiac)	433	Pro-rich.					cytoskeleton (GO:0005856)											tcctcctccccctcctcctcctc	0.591																																						ENST00000458573.2																			0											c.(1276-1278)del		leiomodin 2 (cardiac)																																				SO:0001651	inframe_deletion	442721					cytoskeleton	actin binding|tropomyosin binding	g.chr7:123302916_123302918delCCT	AC006333	CCDS47693.1	7q31.32	2008-08-08			ENSG00000170807	ENSG00000170807			6648	protein-coding gene	gene with protein product		608006					Standard	NM_207163		Approved		uc003vky.2	Q6P5Q4	OTTHUMG00000157149	ENST00000458573.2:c.1276_1278delCCT	7.37:g.123302925_123302927delCCT	ENSP00000411932:p.Pro433del					LMOD2_ENST00000456238.2_Intron	p.P433del	NM_207163.1	NP_997046.1	Q6P5Q4	LMOD2_HUMAN			2	1433_1435	+			433			Pro-rich.		A4D0W9|A4D0Y2|Q8WVJ8	In_Frame_Del	DEL	ENST00000458573.2	37	c.1276_1278delCCT	CCDS47693.1																																																																																				0.591	LMOD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348525.1			3	5						3	5	---	---	---	---	-	123302918	CCT	-	123302916	7	5	191	1	0	1	0	1	0	0	0	0	8857	623	22	0	1282	0	LMOD2	7	123302916	In_Frame_Del	DEL	CCT	TCGA-G9-A9S7-01A-11D-A41K-08	22952618	123302916	35835747	22	8912											
TNPO3	23534	broad.mit.edu	37	chr7	128658068	128658068	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggatatgggttagcaatgaGtcccgtaaagaggcatgaga	13	9	14	5	1	0	3	0	2	0	2	1	5	1	4	1	3	1	4	1	3	5	3			TCGA-G9-A9S7-01A-11D-A41K-08	TCGA-G9-A9S7-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e45d5e62-ce70-466d-b4b3-620d70c95651	0f1a5b46-d751-426a-917c-fac53a697f81	g.chr7:128658068G>C	ENST00000265388.5	-	2	407	c.264C>G	c.(262-264)gaC>gaG	p.D88E	TNPO3_ENST00000471234.1_Missense_Mutation_p.D88E|TNPO3_ENST00000393245.1_Missense_Mutation_p.D88E|TNPO3_ENST00000482320.1_Missense_Mutation_p.D22E|TNPO3_ENST00000471166.1_Missense_Mutation_p.D88E			Q9Y5L0	TNPO3_HUMAN	transportin 3	88					splicing factor protein import into nucleus (GO:0035048)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	receptor activity (GO:0004872)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(3)	22						TTAGCAATGAGTCCCGTAAAG	0.418																																					Pancreas(147;583 2585 39696 52331)	ENST00000393245.1																			0				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(3)	22						c.(262-264)gaC>gaG		transportin 3							151	141	144					7																	128658068		2203	4300	6503	SO:0001583	missense	23534				splicing factor protein import into nucleus	cytoplasm|nucleus	protein binding|receptor activity	g.chr7:128658068G>C	AF145029	CCDS5809.1, CCDS55162.1	7q32.2	2014-02-03			ENSG00000064419	ENSG00000064419		"Importins"	17103	protein-coding gene	gene with protein product	"importin 12"	610032	"limb girdle muscular dystrophy 1F (autosomal dominant)"	LGMD1F		10366588, 10713112, 23543484, 23667635	Standard	NM_012470		Approved	TRN-SR, MTR10A, TRN-SR2, IPO12	uc003vol.2	Q9Y5L0	OTTHUMG00000158409	ENST00000265388.5:c.264C>G	7.37:g.128658068G>C	ENSP00000265388:p.Asp88Glu					TNPO3_ENST00000471166.1_Missense_Mutation_p.D88E|TNPO3_ENST00000265388.5_Missense_Mutation_p.D88E|TNPO3_ENST00000471234.1_Missense_Mutation_p.D88E|TNPO3_ENST00000482320.1_Missense_Mutation_p.D22E	p.D88E	NM_012470.3	NP_036602.1	Q9Y5L0	TNPO3_HUMAN			2	637	-			88					A4D1K9|C9IZM0|Q6NUM1|Q96G71|Q96GU9|Q9Y3R2	Missense_Mutation	SNP	ENST00000265388.5	37	c.264C>G	CCDS5809.1	.	.	.	.	.	.	.	.	.	.	G	14.12	2.439601	0.43326	.	.	ENSG00000064419	ENST00000393245;ENST00000265388;ENST00000482320;ENST00000471234;ENST00000471166	T;T;T;T;T	0.66638	-0.22;-0.22;-0.22;-0.22;-0.22	5.83	4.94	0.65067	Armadillo-like helical (1);Armadillo-type fold (1);	0.043072	0.85682	D	0.000000	T	0.54447	0.1859	L	0.38175	1.15	0.45930	D	0.998766	B;B;B	0.27679	0.185;0.032;0.003	B;B;B	0.28011	0.085;0.025;0.023	T	0.48758	-0.9007	10	0.14252	T	0.57	.	12.6327	0.56667	0.0803:0.0:0.9197:0.0	.	88;88;88	C9IZM0;C9J7E5;Q9Y5L0	.;.;TNPO3_HUMAN	E	88;88;22;88;88	ENSP00000376936:D88E;ENSP00000265388:D88E;ENSP00000420089:D22E;ENSP00000418646:D88E;ENSP00000418267:D88E	ENSP00000265388:D88E	D	-	3	2	TNPO3	128445304	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.304000	0.51866	1.467000	0.48044	0.655000	0.94253	GAC		0.418	TNPO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350929.1	NM_012470		4	57	0	0	0	1	0	4	57					C	128658068	G	C	128658068	3	2	191	1	0	0	0	0	1	0	0	0	16334	1020	36	5	2591	5	TNPO3	7	128658068	Missense_Mutation	SNP	G	TCGA-G9-A9S7-01A-11D-A41K-08	5355152	128658068	30480595	23	8913											
TAF1L	138474	broad.mit.edu	37	chr9	32632973	32632973	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccctgtgcgtttgaagtcagCgcagagctttagcctcttcc	6	12	10	13	2	2	2	1	1	1	1	3	2	3	2	3	0	4	3	3	0	2	4			TCGA-G9-A9S7-01A-11D-A41K-08	TCGA-G9-A9S7-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e45d5e62-ce70-466d-b4b3-620d70c95651	0f1a5b46-d751-426a-917c-fac53a697f81	g.chr9:32632973C>T	ENST00000242310.4	-	1	2694	c.2605G>A	c.(2605-2607)Gct>Act	p.A869T	RP11-555J4.4_ENST00000430787.1_RNA	NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	869					DNA-templated transcription, initiation (GO:0006352)|histone acetylation (GO:0016573)|male meiosis (GO:0007140)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	transcription factor TFIID complex (GO:0005669)	DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine-acetylated histone binding (GO:0070577)|protein serine/threonine kinase activity (GO:0004674)|TBP-class protein binding (GO:0017025)	p.A869T(1)		breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		TTGAAGTCAGCGCAGAGCTTT	0.463																																						ENST00000242310.4																			1	Substitution - Missense(1)	p.A869T(1)	prostate(1)	breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159						c.(2605-2607)Gct>Act		TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like							137	139	138					9																	32632973		2203	4300	6503	SO:0001583	missense	138474				male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding	g.chr9:32632973C>T	AF390562	CCDS35003.1	9p12	2007-07-27	2007-07-27		ENSG00000122728	ENSG00000122728			18056	protein-coding gene	gene with protein product		607798	"TAF1-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa"			12217962	Standard	NM_153809		Approved		uc003zrg.1	Q8IZX4	OTTHUMG00000019747	ENST00000242310.4:c.2605G>A	9.37:g.32632973C>T	ENSP00000418379:p.Ala869Thr						p.A869T	NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)	1	2694	-			869					Q0VG57	Missense_Mutation	SNP	ENST00000242310.4	37	c.2605G>A	CCDS35003.1	.	.	.	.	.	.	.	.	.	.	C	15.96	2.987904	0.53934	.	.	ENSG00000122728	ENST00000242310	T	0.15487	2.42	1.19	1.19	0.21007	Transcription initiation factor TFIID subunit 1, domain of unknown function (1);	0.000000	0.85682	D	0.000000	T	0.38799	0.1054	M	0.82630	2.6	0.53005	D	0.999969	D	0.89917	1.0	D	0.83275	0.996	T	0.22521	-1.0214	10	0.72032	D	0.01	.	7.8312	0.29344	0.0:1.0:0.0:0.0	.	869	Q8IZX4	TAF1L_HUMAN	T	869	ENSP00000418379:A869T	ENSP00000418379:A869T	A	-	1	0	TAF1L	32622973	1.000000	0.71417	0.991000	0.47740	0.694000	0.40290	4.928000	0.63447	0.632000	0.30432	0.195000	0.17529	GCT		0.463	TAF1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052012.2			4	152	0	0	0	1	0	4	152					T	32632973	C	T	32632973	3	4	191	1	0	0	0	0	1	0	0	0	15520	768	27	1	2879	1	TAF1L	9	32632973	Missense_Mutation	SNP	C	TCGA-G9-A9S7-01A-11D-A41K-08		32632973	108580458	24	8914											
PAX5	5079	broad.mit.edu	37	chr9	37006485	37006485	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttacctatgctgtgactggAagctgggactggttggttgg	6	13	15	7	0	0	1	0	1	0	0	0	3	0	3	1	5	3	4	1	5	3	4			TCGA-G9-A9S7-01A-11D-A41K-08	TCGA-G9-A9S7-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e45d5e62-ce70-466d-b4b3-620d70c95651	0f1a5b46-d751-426a-917c-fac53a697f81	g.chr9:37006485A>G	ENST00000358127.4	-	4	534	c.460T>C	c.(460-462)Tcc>Ccc	p.S154P	PAX5_ENST00000377847.2_Missense_Mutation_p.S154P|PAX5_ENST00000523241.1_Missense_Mutation_p.S154P|PAX5_ENST00000414447.1_Missense_Mutation_p.S154P|PAX5_ENST00000522003.1_Missense_Mutation_p.S46P|PAX5_ENST00000377853.2_Missense_Mutation_p.S154P|PAX5_ENST00000520281.1_Missense_Mutation_p.S154P|RP11-297B17.3_ENST00000509911.2_RNA|PAX5_ENST00000523145.1_Missense_Mutation_p.S46P|PAX5_ENST00000520154.1_Missense_Mutation_p.S154P|PAX5_ENST00000446742.1_Missense_Mutation_p.S88P|PAX5_ENST00000377852.2_Missense_Mutation_p.S154P	NM_001280554.1|NM_001280556.1|NM_016734.1	NP_001267483.1|NP_001267485.1|NP_057953.1	Q02548	PAX5_HUMAN	paired box 5	154					humoral immune response (GO:0006959)|multicellular organismal development (GO:0007275)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|organ morphogenesis (GO:0009887)|skeletal muscle cell differentiation (GO:0035914)|spermatogenesis (GO:0007283)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)	p.?(40)	PAX5/JAK2(18)	NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(151)|kidney(1)|lung(10)|prostate(1)|skin(1)	171		all_cancers(2;3.46e-10)|Acute lymphoblastic leukemia(2;7.09e-56)|all_hematologic(2;6.65e-44)		GBM - Glioblastoma multiforme(29;0.0108)		CTGTGACTGGAAGCTGGGACT	0.378			"T, Mis, D, F, S"	"IGH@, ETV6, PML, FOXP1, ZNF521, ELN"	"NHL, ALL, B-ALL"																																	ENST00000358127.4				Dom	yes		9	9p13	5079	"T, Mis, D, F, S"	paired box gene 5 (B-cell lineage specific activator protein)			L	"IGH@, ETV6, PML, FOXP1, ZNF521, ELN"		"NHL, ALL, B-ALL"	PAX5/JAK2(18)	40	Unknown(40)	p.?(40)	haematopoietic_and_lymphoid_tissue(40)	NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(151)|kidney(1)|lung(10)|prostate(1)|skin(1)	171						c.(460-462)Tcc>Ccc		paired box 5							179	175	177					9																	37006485		2203	4300	6503	SO:0001583	missense	5079				cell differentiation|humoral immune response|nervous system development|organ morphogenesis|spermatogenesis|transcription from RNA polymerase II promoter	nucleus	DNA binding	g.chr9:37006485A>G		CCDS6607.1, CCDS65039.1, CCDS65040.1, CCDS65041.1, CCDS65042.1, CCDS65043.1, CCDS65044.1, CCDS65045.1, CCDS65046.1, CCDS65047.1, CCDS65048.1	9p13.2	2011-06-20	2007-07-12		ENSG00000196092	ENSG00000196092		"Paired boxes", "Homeoboxes / PRD class"	8619	protein-coding gene	gene with protein product	"B-cell lineage specific activator"	167414	"paired box gene 5 (B-cell lineage specific activator protein)", "paired box gene 5 (B-cell lineage specific activator)"			1516825, 8431641	Standard	NM_016734		Approved	BSAP	uc003zzo.1	Q02548	OTTHUMG00000019907	ENST00000358127.4:c.460T>C	9.37:g.37006485A>G	ENSP00000350844:p.Ser154Pro					PAX5_ENST00000377853.2_Missense_Mutation_p.S154P|PAX5_ENST00000414447.1_Missense_Mutation_p.S154P|PAX5_ENST00000522003.1_Missense_Mutation_p.S46P|PAX5_ENST00000520154.1_Missense_Mutation_p.S154P|RP11-297B17.3_ENST00000509911.2_RNA|PAX5_ENST00000520281.1_Missense_Mutation_p.S154P|PAX5_ENST00000377847.2_Missense_Mutation_p.S154P|PAX5_ENST00000446742.1_Missense_Mutation_p.S88P|PAX5_ENST00000523145.1_Missense_Mutation_p.S46P|PAX5_ENST00000523241.1_Missense_Mutation_p.S154P|PAX5_ENST00000377852.2_Missense_Mutation_p.S154P	p.S154P	NM_016734.1	NP_057953.1	Q02548	PAX5_HUMAN		GBM - Glioblastoma multiforme(29;0.0108)	4	534	-		all_cancers(2;3.46e-10)|Acute lymphoblastic leukemia(2;7.09e-56)|all_hematologic(2;6.65e-44)	154					A3QVP6|A3QVP7|A3QVP8|C0KTF6|C0KTF7|C0KTF8|C0KTF9|C0KTG0|O75933|Q5SFM2|Q6S728|Q6S729|Q6S730|Q6S731|Q6S732	Missense_Mutation	SNP	ENST00000358127.4	37	c.460T>C	CCDS6607.1	.	.	.	.	.	.	.	.	.	.	A	12.51	1.961010	0.34565	.	.	ENSG00000196092	ENST00000358127;ENST00000377849;ENST00000377853;ENST00000377852;ENST00000523241;ENST00000520154;ENST00000520281;ENST00000446742;ENST00000522003;ENST00000523145;ENST00000414447;ENST00000377847	D;D;D;D;D;D;D;D;D;D;D	0.97870	-4.09;-4.08;-4.09;-4.57;-4.58;-4.56;-3.76;-1.82;-2.41;-4.58;-4.57	5.32	5.32	0.75619	.	0.000000	0.85682	D	0.000000	D	0.96087	0.8725	N	0.16066	0.365	0.54753	D	0.999986	B;D;B;B;B;B;D;D;D	0.76494	0.001;0.999;0.046;0.003;0.027;0.058;0.995;0.967;0.967	B;D;B;B;B;B;P;D;D	0.68765	0.001;0.96;0.103;0.002;0.028;0.049;0.763;0.91;0.91	D	0.93330	0.6700	10	0.02654	T	1	.	15.5592	0.76229	1.0:0.0:0.0:0.0	.	154;154;88;154;154;154;154;154;154	C0KTF8;C0KTF7;C0KTF9;C0KTF6;E7ERW5;E7EQT0;Q6S730;Q6S731;Q02548	.;.;.;.;.;.;.;.;PAX5_HUMAN	P	154;46;154;154;154;154;154;88;46;46;154;154	ENSP00000350844:S154P;ENSP00000367084:S154P;ENSP00000367083:S154P;ENSP00000429637:S154P;ENSP00000429291:S154P;ENSP00000430773:S154P;ENSP00000404687:S88P;ENSP00000429359:S46P;ENSP00000429197:S46P;ENSP00000412188:S154P;ENSP00000367078:S154P	ENSP00000350844:S154P	S	-	1	0	PAX5	36996485	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.981000	0.49329	2.131000	0.65755	0.528000	0.53228	TCC		0.378	PAX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052433.1			43	50	0	0	0	1	0	43	50					G	37006485	A	G	37006485	3	3	191	1	0	0	0	0	1	0	0	0	11482	246	9	4	743	4	PAX5	9	37006485	Missense_Mutation	SNP	A	TCGA-G9-A9S7-01A-11D-A41K-08	4373512	37006485	104206946	25	8915											
IFT88	8100	broad.mit.edu	37	chr13	21245111	21245111	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgtcttctctttgctctaGcgcataaagtcaggcagaga	9	13	9	10	1	4	1	1	0	3	1	5	2	4	1	0	1	2	3	0	1	3	5			TCGA-G9-A9S7-01A-11D-A41K-08	TCGA-G9-A9S7-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e45d5e62-ce70-466d-b4b3-620d70c95651	0f1a5b46-d751-426a-917c-fac53a697f81	g.chr13:21245111G>A	ENST00000319980.6	+	26	2529		c.e26-1		IFT88_ENST00000351808.5_Splice_Site|IFT88_ENST00000382778.4_Splice_Site|IFT88_ENST00000537103.1_Splice_Site	NM_175605.3	NP_783195.2	Q13099	IFT88_HUMAN	intraflagellar transport 88						anterior/posterior pattern specification (GO:0009952)|cardiac muscle cell differentiation (GO:0055007)|cardiac septum morphogenesis (GO:0060411)|cilium morphogenesis (GO:0060271)|cochlea development (GO:0090102)|cytoplasmic microtubule organization (GO:0031122)|determination of left/right symmetry (GO:0007368)|embryonic digit morphogenesis (GO:0042733)|epidermal stem cell homeostasis (GO:0036334)|epidermis development (GO:0008544)|epithelial cell morphogenesis (GO:0003382)|eye development (GO:0001654)|forebrain morphogenesis (GO:0048853)|heart formation (GO:0060914)|inner ear receptor stereocilium organization (GO:0060122)|kidney development (GO:0001822)|liver development (GO:0001889)|lung vasculature development (GO:0060426)|negative regulation of epithelial cell proliferation (GO:0050680)|Notch signaling pathway (GO:0007219)|palate development (GO:0060021)|pancreas development (GO:0031016)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|protein localization (GO:0008104)|regulation of autophagic vacuole assembly (GO:2000785)|regulation of cilium assembly (GO:1902017)|regulation of fat cell differentiation (GO:0045598)|regulation of odontogenesis of dentin-containing tooth (GO:0042487)|regulation of protein processing (GO:0070613)|regulation of smoothened signaling pathway (GO:0008589)|response to fluid shear stress (GO:0034405)|smoothened signaling pathway (GO:0007224)|sperm axoneme assembly (GO:0007288)|spermatid nucleus elongation (GO:0007290)|spinal cord dorsal/ventral patterning (GO:0021513)|telencephalon development (GO:0021537)	acrosomal membrane (GO:0002080)|apical part of cell (GO:0045177)|axonemal basal plate (GO:0097541)|centriole (GO:0005814)|ciliary basal body (GO:0036064)|ciliary base (GO:0097546)|ciliary tip (GO:0097542)|cilium (GO:0005929)|intraciliary transport particle B (GO:0030992)|kinocilium (GO:0060091)|motile cilium (GO:0031514)|motile primary cilium (GO:0031512)|photoreceptor connecting cilium (GO:0032391)				breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	27		all_cancers(29;5.79e-25)|all_epithelial(30;2.57e-20)|all_lung(29;3.13e-16)|Lung SC(185;0.0262)|Ovarian(182;0.0825)|Hepatocellular(188;0.244)		all cancers(112;0.000667)|Epithelial(112;0.00119)|OV - Ovarian serous cystadenocarcinoma(117;0.0141)|Lung(94;0.0183)|LUSC - Lung squamous cell carcinoma(192;0.0528)		CTTTGCTCTAGCGCATAAAGT	0.393																																						ENST00000382778.4																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	27						c.e26-1		intraflagellar transport 88 homolog (Chlamydomonas)							77	77	77					13																	21245111		2203	4300	6503	SO:0001630	splice_region_variant	8100				cilium morphogenesis	centriole|intraflagellar transport particle B|microtubule basal body|microtubule-based flagellum	protein binding	g.chr13:21245111G>A	AK058172	CCDS31944.1, CCDS31945.1	13q12.1	2014-07-03	2014-07-03	2005-11-02	ENSG00000032742	ENSG00000032742		"Intraflagellar transport homologs", "Tetratricopeptide (TTC) repeat domain containing"	20606	protein-coding gene	gene with protein product	"polaris homolog"	600595	"tetratricopeptide repeat domain 10", "intraflagellar transport 88 homolog (Chlamydomonas)"	TTC10		7633404	Standard	XM_005266546		Approved	hTg737, Tg737, D13S1056E, MGC26259	uc001uni.3	Q13099	OTTHUMG00000016517	ENST00000319980.6:c.2203-1G>A	13.37:g.21245111G>A						IFT88_ENST00000351808.5_Splice_Site|IFT88_ENST00000319980.6_Splice_Site|IFT88_ENST00000537103.1_Splice_Site				Q13099	IFT88_HUMAN		all cancers(112;0.000667)|Epithelial(112;0.00119)|OV - Ovarian serous cystadenocarcinoma(117;0.0141)|Lung(94;0.0183)|LUSC - Lung squamous cell carcinoma(192;0.0528)	26	3444	+		all_cancers(29;5.79e-25)|all_epithelial(30;2.57e-20)|all_lung(29;3.13e-16)|Lung SC(185;0.0262)|Ovarian(182;0.0825)|Hepatocellular(188;0.244)						A2A491|B4DUS2|Q5SZJ6|Q8N719	Splice_Site	SNP	ENST00000319980.6	37		CCDS31944.1	.	.	.	.	.	.	.	.	.	.	G	19.96	3.922768	0.73213	.	.	ENSG00000032742	ENST00000382778;ENST00000351808;ENST00000319980;ENST00000537103	.	.	.	5.08	5.08	0.68730	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.5927	0.88001	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	IFT88	20143111	1.000000	0.71417	0.998000	0.56505	0.954000	0.61252	6.516000	0.73755	2.534000	0.85438	0.561000	0.74099	.		0.393	IFT88-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000044075.3	NM_006531	Intron	4	17	0	0	0	1	0	4	17					A	21245111	G	A	21245111	5	1	191	1	0	0	0	0	0	0	1	0	7566	985	34	3	2296	3	IFT88	13	21245111	Splice_Site	SNP	G	TCGA-G9-A9S7-01A-11D-A41K-08		21245111	93924767	26	8916											
PAN3	255967	broad.mit.edu	37	chr13	28844930	28844930	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tccaactaagttctgcattgCgtaccattcatacagcaggt	11	12	7	11	1	2	0	1	0	1	0	3	0	3	0	2	1	6	4	2	1	4	6			TCGA-G9-A9S7-01A-11D-A41K-08	TCGA-G9-A9S7-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e45d5e62-ce70-466d-b4b3-620d70c95651	0f1a5b46-d751-426a-917c-fac53a697f81	g.chr13:28844930C>G	ENST00000380958.3	+	13	2037	c.1885C>G	c.(1885-1887)Cgt>Ggt	p.R629G	PAN3_ENST00000282391.5_Missense_Mutation_p.R317G|PAN3_ENST00000399613.1_Missense_Mutation_p.R429G	NM_175854.7	NP_787050.6			PAN3 poly(A) specific ribonuclease subunit											endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)	Colorectal(13;0.000334)	all cancers(112;0.0102)|Epithelial(112;0.0803)|GBM - Glioblastoma multiforme(144;0.121)|OV - Ovarian serous cystadenocarcinoma(117;0.13)|Lung(94;0.174)		TTCTGCATTGCGTACCATTCA	0.428																																						ENST00000399613.1																			0				endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24						c.(1285-1287)Cgt>Ggt		PAN3 poly(A) specific ribonuclease subunit homolog (S. cerevisiae)							201	183	189					13																	28844930		2203	4300	6503	SO:0001583	missense	255967				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening	centrosome|cytosol	ATP binding|protein kinase activity	g.chr13:28844930C>G	AK091307	CCDS9329.1, CCDS9329.2	13q12.2	2014-03-27	2014-03-27		ENSG00000152520	ENSG00000152520			29991	protein-coding gene	gene with protein product			"PAN3 poly(A) specific ribonuclease subunit homolog (S. cerevisiae)"			14583602	Standard	NM_175854		Approved		uc001urz.3	Q58A45	OTTHUMG00000016645	ENST00000380958.3:c.1885C>G	13.37:g.28844930C>G	ENSP00000370345:p.Arg629Gly					PAN3_ENST00000380958.3_Missense_Mutation_p.R629G|PAN3_ENST00000282391.5_Missense_Mutation_p.R317G	p.R429G			Q58A45	PAN3_HUMAN	Colorectal(13;0.000334)	all cancers(112;0.0102)|Epithelial(112;0.0803)|GBM - Glioblastoma multiforme(144;0.121)|OV - Ovarian serous cystadenocarcinoma(117;0.13)|Lung(94;0.174)	12	1348	+	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)	629			Interaction with polyadenylate-binding protein.			Missense_Mutation	SNP	ENST00000380958.3	37	c.1285C>G	CCDS9329.2	.	.	.	.	.	.	.	.	.	.	C	22.0	4.224470	0.79576	.	.	ENSG00000152520	ENST00000380958;ENST00000399613;ENST00000282391	T;T;T	0.46451	0.87;0.87;0.87	5.42	4.53	0.55603	Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.047913	0.85682	D	0.000000	T	0.65344	0.2682	M	0.81341	2.54	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.997;0.999;0.997;0.998	T	0.69312	-0.5178	10	0.72032	D	0.01	-5.6811	13.9388	0.64041	0.2597:0.7403:0.0:0.0	.	629;629;317;575	Q58A45-4;Q58A45;Q58A45-2;Q58A45-3	.;PAN3_HUMAN;.;.	G	629;429;317	ENSP00000370345:R629G;ENSP00000382522:R429G;ENSP00000282391:R317G	ENSP00000282391:R317G	R	+	1	0	PAN3	27742930	1.000000	0.71417	0.994000	0.49952	0.993000	0.82548	3.871000	0.56077	2.704000	0.92352	0.563000	0.77884	CGT		0.428	PAN3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000044318.4	NM_175854		28	93	0	0	0	1	0	28	93					G	28844930	C	G	28844930	3	3	191	1	0	0	0	0	1	0	0	0	11415	768	27	5	1935	5	PAN3	13	28844930	Missense_Mutation	SNP	C	TCGA-G9-A9S7-01A-11D-A41K-08	7599819	28844930	86324948	27	8917											
HSPA2	3306	broad.mit.edu	37	chr14	65008203	65008203	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ggcactttcgacgtgtccatCctgaccatcgaggatggcat	8	10	11	12	3	0	1	0	1	0	0	4	4	2	2	3	3	0	2	3	3	0	1			TCGA-G9-A9S7-01A-11D-A41K-08	TCGA-G9-A9S7-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e45d5e62-ce70-466d-b4b3-620d70c95651	0f1a5b46-d751-426a-917c-fac53a697f81	g.chr14:65008203C>T	ENST00000394709.1	+	2	712	c.636C>T	c.(634-636)atC>atT	p.I212I	HSPA2_ENST00000554883.1_3'UTR|HSPA2_ENST00000247207.6_Silent_p.I212I|RP11-973N13.4_ENST00000554918.1_RNA			P54652	HSP72_HUMAN	heat shock 70kDa protein 2	212					male meiosis (GO:0007140)|male meiosis I (GO:0007141)|negative regulation of inclusion body assembly (GO:0090084)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G2/M transition of mitotic cell cycle (GO:0031662)|protein refolding (GO:0042026)|response to unfolded protein (GO:0006986)|spermatid development (GO:0007286)|synaptonemal complex disassembly (GO:0070194)	blood microparticle (GO:0072562)|CatSper complex (GO:0036128)|cell surface (GO:0009986)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|male germ cell nucleus (GO:0001673)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|glycolipid binding (GO:0051861)|unfolded protein binding (GO:0051082)			breast(1)|endometrium(4)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	22				all cancers(60;0.00515)|OV - Ovarian serous cystadenocarcinoma(108;0.00584)|BRCA - Breast invasive adenocarcinoma(234;0.045)		ACGTGTCCATCCTGACCATCG	0.652																																					Pancreas(136;1211 1835 24894 31984 38227)	ENST00000247207.6																			0				breast(1)|endometrium(4)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	22						c.(634-636)atC>atT		heat shock 70kDa protein 2							88	93	92					14																	65008203		2203	4300	6503	SO:0001819	synonymous_variant	3306				response to unfolded protein|spermatid development	cell surface	ATP binding|unfolded protein binding	g.chr14:65008203C>T	L26336, BC001752	CCDS9766.1	14q23	2012-10-02	2002-08-29		ENSG00000126803	ENSG00000126803		"Heat shock proteins / HSP70"	5235	protein-coding gene	gene with protein product		140560	"heat shock 70kD protein 2"				Standard	NM_021979		Approved		uc001xhk.4	P54652	OTTHUMG00000141311	ENST00000394709.1:c.636C>T	14.37:g.65008203C>T						HSPA2_ENST00000394709.1_Silent_p.I212I|HSPA2_ENST00000554883.1_3'UTR	p.I212I	NM_021979.3	NP_068814.2	P54652	HSP72_HUMAN		all cancers(60;0.00515)|OV - Ovarian serous cystadenocarcinoma(108;0.00584)|BRCA - Breast invasive adenocarcinoma(234;0.045)	1	1018	+			212					Q15508|Q53XM3|Q9UE78	Silent	SNP	ENST00000394709.1	37	c.636C>T	CCDS9766.1																																																																																				0.652	HSPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280651.1			4	63	0	0	0	1	0	4	63					T	65008203	C	T	65008203	2	4	191	1	0	0	0	0	0	0	0	1	7411	845	30	3		3	HSPA2	14	65008203	Silent	SNP	C	TCGA-G9-A9S7-01A-11D-A41K-08		65008203	42341337	28	8918											
NRXN3	9369	broad.mit.edu	37	chr14	80271468	80271468	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taaacagccaacatcagatgAtcttgtttcatctgctgaat	13	13	6	9	0	4	3	2	2	2	1	4	3	4	3	1	0	4	2	1	0	4	3			TCGA-G9-A9S7-01A-11D-A41K-08	TCGA-G9-A9S7-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e45d5e62-ce70-466d-b4b3-620d70c95651	0f1a5b46-d751-426a-917c-fac53a697f81	g.chr14:80271468A>C	ENST00000557594.1	+	5	1876	c.923A>C	c.(922-924)gAt>gCt	p.D308A	NRXN3_ENST00000335750.5_Missense_Mutation_p.D940A|NRXN3_ENST00000428277.2_Missense_Mutation_p.D338A|NRXN3_ENST00000554719.1_Missense_Mutation_p.D940A|NRXN3_ENST00000281127.7_Missense_Mutation_p.D308A|NRXN3_ENST00000556003.1_Intron	NM_001272020.1	NP_001258949.1	Q9HDB5	NRX3B_HUMAN	neurexin 3	308					adult behavior (GO:0030534)|angiogenesis (GO:0001525)|learning (GO:0007612)|neuron cell-cell adhesion (GO:0007158)|neurotransmitter secretion (GO:0007269)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synapse maturation (GO:0090129)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|vocalization behavior (GO:0071625)	integral component of membrane (GO:0016021)	cell adhesion molecule binding (GO:0050839)|neuroligin family protein binding (GO:0097109)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		ACATCAGATGATCTTGTTTCA	0.388																																						ENST00000281127.7																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104						c.(922-924)gAt>gCt		neurexin 3							228	202	211					14																	80271468		2203	4300	6503	SO:0001583	missense	9369				angiogenesis|cell adhesion	integral to membrane		g.chr14:80271468A>C	AB018286	CCDS9870.1, CCDS9871.1, CCDS45145.1, CCDS61515.1	14q31	2010-01-19				ENSG00000021645			8010	protein-coding gene	gene with protein product		600567	"chromosome 14 open reading frame 60"	C14orf60		11944992, 12379233	Standard	NM_004796		Approved	KIAA0743	uc001xun.4	Q9HDB5		ENST00000557594.1:c.923A>C	14.37:g.80271468A>C	ENSP00000451672:p.Asp308Ala					NRXN3_ENST00000556003.1_Intron|NRXN3_ENST00000557594.1_Missense_Mutation_p.D308A|NRXN3_ENST00000428277.2_Missense_Mutation_p.D338A|NRXN3_ENST00000335750.5_Missense_Mutation_p.D940A|NRXN3_ENST00000554719.1_Missense_Mutation_p.D940A	p.D308A	NM_138970.3	NP_620426.2	Q9HDB5	NRX3B_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)	5	1802	+		Renal(4;0.00876)	308					A5PKW8|A8MPU5|B3KPM7|Q6NUR0|Q8IUD8	Missense_Mutation	SNP	ENST00000557594.1	37	c.923A>C		.	.	.	.	.	.	.	.	.	.	A	15.71	2.914404	0.52546	.	.	ENSG00000021645	ENST00000330071;ENST00000332068;ENST00000554719;ENST00000335750;ENST00000557594;ENST00000281127;ENST00000428277	T;T;T;T;T	0.67698	-0.28;-0.28;1.34;1.46;1.25	5.41	5.41	0.78517	.	0.057521	0.64402	D	0.000003	T	0.59418	0.2192	N	0.14661	0.345	0.58432	D	0.999999	P;P;B;B	0.47350	0.894;0.575;0.124;0.001	P;B;B;B	0.50570	0.644;0.406;0.045;0.001	T	0.59220	-0.7495	9	.	.	.	.	15.4541	0.75299	1.0:0.0:0.0:0.0	.	338;308;308;940	Q9HDB5-4;Q9HDB5-2;Q9HDB5;Q9Y4C0-3	.;.;NRX3B_HUMAN;.	A	1313;1332;940;940;308;308;338	ENSP00000451648:D940A;ENSP00000338349:D940A;ENSP00000451672:D308A;ENSP00000281127:D308A;ENSP00000394426:D338A	.	D	+	2	0	NRXN3	79341221	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.720000	0.91442	2.048000	0.60808	0.528000	0.53228	GAT		0.388	NRXN3-004	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000413790.1	NM_001105250		33	65	0	0	0	1	0	33	65					C	80271468	A	C	80271468	3	2	191	1	0	0	0	0	1	0	0	0	10667	333	12	5	3218	5	NRXN3	14	80271468	Missense_Mutation	SNP	A	TCGA-G9-A9S7-01A-11D-A41K-08	15263265	80271468	27078072	29	8919											
PARP16	54956	broad.mit.edu	37	chr15	65551824	65551824	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgagcagcagcagcagatacAgggatatcatgacggtaaac	15	6	12	8	1	1	3	1	2	0	1	1	4	1	4	0	2	6	5	0	2	4	3			TCGA-G9-A9S7-01A-11D-A41K-08	TCGA-G9-A9S7-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e45d5e62-ce70-466d-b4b3-620d70c95651	0f1a5b46-d751-426a-917c-fac53a697f81	g.chr15:65551824A>T	ENST00000444347.2	-	4	961	c.545T>A	c.(544-546)cTg>cAg	p.L182Q	PARP16_ENST00000261888.6_Missense_Mutation_p.L298Q			Q8N5Y8	PAR16_HUMAN	poly (ADP-ribose) polymerase family, member 16	297	PARP catalytic. {ECO:0000255|PROSITE- ProRule:PRU00397}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of cell death (GO:0060548)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|protein ADP-ribosylation (GO:0006471)|protein auto-ADP-ribosylation (GO:0070213)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum tubular network (GO:0071782)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear envelope (GO:0005635)	kinase binding (GO:0019900)|NAD(P)+-protein-arginine ADP-ribosyltransferase activity (GO:0003956)|NAD+ ADP-ribosyltransferase activity (GO:0003950)|protein serine/threonine kinase activator activity (GO:0043539)			kidney(1)|large_intestine(1)|lung(5)|prostate(1)|skin(1)	9						CAGCAGATACAGGGATATCAT	0.473																																					NSCLC(50;885 1163 13509 21242 41978)	ENST00000261888.6																			0				kidney(1)|large_intestine(1)|lung(5)|prostate(1)|skin(1)	9						c.(892-894)cTg>cAg		poly (ADP-ribose) polymerase family, member 16							112	110	111					15																	65551824		2201	4299	6500	SO:0001583	missense	54956					integral to membrane	NAD+ ADP-ribosyltransferase activity	g.chr15:65551824A>T	AK000516	CCDS10204.1	15q22.2	2010-02-16	2004-08-25	2004-08-25	ENSG00000138617	ENSG00000138617		"Poly (ADP-ribose) polymerases"	26040	protein-coding gene	gene with protein product			"chromosome 15 open reading frame 30"	C15orf30		15273990	Standard	NM_017851		Approved	FLJ20509, FLJ25281, pART15	uc002aoq.3	Q8N5Y8	OTTHUMG00000133138	ENST00000444347.2:c.545T>A	15.37:g.65551824A>T	ENSP00000396118:p.Leu182Gln					PARP16_ENST00000444347.2_Missense_Mutation_p.L182Q	p.L298Q	NM_017851.4	NP_060321.3	Q8N5Y8	PAR16_HUMAN			6	1338	-			297			Poly-Leu.		Q6PK64|Q9NX03	Missense_Mutation	SNP	ENST00000444347.2	37	c.893T>A		.	.	.	.	.	.	.	.	.	.	A	20.6	4.017865	0.75161	.	.	ENSG00000138617	ENST00000261888;ENST00000444347	T;T	0.50277	0.75;0.76	5.86	4.74	0.60224	.	0.132951	0.52532	D	0.000077	T	0.54382	0.1855	L	0.34521	1.04	0.80722	D	1	D;B;D	0.89917	1.0;0.441;1.0	D;B;D	0.72075	0.976;0.421;0.946	T	0.54669	-0.8259	10	0.51188	T	0.08	-6.9072	10.6302	0.45532	0.9257:0.0:0.0743:0.0	.	298;182;297	Q8N5Y8-3;Q8N5Y8-2;Q8N5Y8	.;.;PAR16_HUMAN	Q	298;182	ENSP00000261888:L298Q;ENSP00000396118:L182Q	ENSP00000261888:L298Q	L	-	2	0	PARP16	63338877	1.000000	0.71417	0.997000	0.53966	0.962000	0.63368	6.879000	0.75572	2.241000	0.73720	0.533000	0.62120	CTG		0.473	PARP16-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000418174.1	NM_017851		6	56	0	0	0	1	0	6	56					T	65551824	A	T	65551824	3	4	191	1	0	0	0	0	1	0	0	0	11460	188	7	5	82	5	PARP16	15	65551824	Missense_Mutation	SNP	A	TCGA-G9-A9S7-01A-11D-A41K-08		65551824	36979568	30	8920											
ZNF710	374655	broad.mit.edu	37	chr15	90610702	90610702	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttggtgcccaaggtcaagttCgagaaggtggaggaggagga	11	7	18	5	1	1	1	1	0	0	1	2	6	1	5	1	7	1	1	1	7	3	2			TCGA-G9-A9S7-01A-11D-A41K-08	TCGA-G9-A9S7-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e45d5e62-ce70-466d-b4b3-620d70c95651	0f1a5b46-d751-426a-917c-fac53a697f81	g.chr15:90610702C>T	ENST00000268154.4	+	2	584	c.333C>T	c.(331-333)ttC>ttT	p.F111F		NM_198526.2	NP_940928.2	Q8N1W2	ZN710_HUMAN	zinc finger protein 710	111					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(1)|ovary(2)|prostate(1)|stomach(1)|urinary_tract(3)	19	Melanoma(11;0.00551)|Lung NSC(78;0.0196)|all_lung(78;0.04)		BRCA - Breast invasive adenocarcinoma(143;0.00769)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.129)			AGGTCAAGTTCGAGAAGGTGG	0.657																																						ENST00000268154.4																			0				breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(1)|ovary(2)|prostate(1)|stomach(1)|urinary_tract(3)	19						c.(331-333)ttC>ttT		zinc finger protein 710							73	68	69					15																	90610702		2200	4297	6497	SO:0001819	synonymous_variant	374655				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr15:90610702C>T	AK094712	CCDS10358.1	15q26.1	2013-01-08			ENSG00000140548	ENSG00000140548		"Zinc fingers, C2H2-type"	25352	protein-coding gene	gene with protein product							Standard	XM_005254905		Approved	DKFZp547K1113, FLJ37393, FLJ00306	uc002bov.2	Q8N1W2	OTTHUMG00000149812	ENST00000268154.4:c.333C>T	15.37:g.90610702C>T							p.F111F	NM_198526.2	NP_940928.2	Q8N1W2	ZN710_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.00769)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.129)		2	584	+	Melanoma(11;0.00551)|Lung NSC(78;0.0196)|all_lung(78;0.04)		111					A0AVS3|Q6ZMK9|Q8NDU0	Silent	SNP	ENST00000268154.4	37	c.333C>T	CCDS10358.1																																																																																				0.657	ZNF710-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313423.1	NM_198526		3	14	0	0	0	1	0	3	14					T	90610702	C	T	90610702	2	4	191	1	0	0	0	0	0	0	0	1	18112	883	31	2		2	ZNF710	15	90610702	Silent	SNP	C	TCGA-G9-A9S7-01A-11D-A41K-08	25058878	90610702	11920690	31	8921											
FAM86A	196483	broad.mit.edu	37	chr16	5139146	5139146	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gctggcacgtctctgggttgCggacggtaaaggccacgtag	7	8	16	10	4	1	0	0	0	1	0	2	1	1	1	1	5	1	5	1	5	3	3	rs147678499	byFrequency	TCGA-G9-A9S7-01A-11D-A41K-08	TCGA-G9-A9S7-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e45d5e62-ce70-466d-b4b3-620d70c95651	0f1a5b46-d751-426a-917c-fac53a697f81	g.chr16:5139146C>T	ENST00000427587.4	-	7	922	c.854G>A	c.(853-855)cGc>cAc	p.R285H	FAM86A_ENST00000458008.4_Missense_Mutation_p.R251H|FAM86A_ENST00000587133.1_Missense_Mutation_p.R224H	NM_201400.2	NP_958802.1	Q96G04	FA86A_HUMAN	family with sequence similarity 86, member A	285						cytoplasm (GO:0005737)				endometrium(1)|large_intestine(2)|lung(4)|prostate(3)|skin(2)	12						CTCTGGGTTGCGGACGGTAAA	0.677													c|||	11	0.00219649	0.0083	0	5008	,	,		16179	0		0	False		,,,				2504	0					ENST00000427587.4																			0				endometrium(1)|large_intestine(2)|lung(4)|prostate(3)|skin(2)	12						c.(853-855)cGc>cAc		family with sequence similarity 86, member A		T	HIS/ARG,HIS/ARG	18,2992		0,18,1487	95	112	106		854,752	3.1	0.9	16	dbSNP_134	106	0,5412		0,0,2706	no	missense,missense	FAM86A	NM_201400.2,NM_201598.2	29,29	0,18,4193	TT,TC,CC		0.0,0.598,0.2137	benign,benign	285/331,251/297	5139146	18,8404	1505	2706	4211	SO:0001583	missense	196483							g.chr16:5139146C>T	BC010084	CCDS10529.1, CCDS10530.1, CCDS73823.1	16p13.3	2012-11-07			ENSG00000118894	ENSG00000118894			32221	protein-coding gene	gene with protein product		615263					Standard	NM_201400		Approved	SB153, MGC19636	uc002cyo.2	Q96G04	OTTHUMG00000129527	ENST00000427587.4:c.854G>A	16.37:g.5139146C>T	ENSP00000398502:p.Arg285His					FAM86A_ENST00000458008.4_Missense_Mutation_p.R251H|FAM86A_ENST00000587133.1_Missense_Mutation_p.R224H	p.R285H	NM_201400.2	NP_958802.1	Q96G04	FA86A_HUMAN			7	922	-			285					D3DUF0|Q96S85	Missense_Mutation	SNP	ENST00000427587.4	37	c.854G>A	CCDS10529.1	.	.	.	.	.	.	.	.	.	.	c	14.14	2.445111	0.43429	0.00598	0.0	ENSG00000118894	ENST00000458008;ENST00000427587	T;T	0.14022	2.54;2.54	4.05	3.1	0.35709	.	2.545180	0.01315	U	0.010754	T	0.33089	0.0851	H	0.94462	3.54	0.58432	D	0.999994	P;D	0.54964	0.931;0.969	P;P	0.50109	0.497;0.631	T	0.39860	-0.9593	10	0.62326	D	0.03	.	9.4547	0.38747	0.0:0.8972:0.0:0.1028	.	251;285	Q96G04-2;Q96G04	.;FA86A_HUMAN	H	251;285	ENSP00000389710:R251H;ENSP00000398502:R285H	ENSP00000398502:R285H	R	-	2	0	FAM86A	5079147	1.000000	0.71417	0.948000	0.38648	0.006000	0.05464	5.711000	0.68400	1.057000	0.40506	-0.405000	0.06341	CGC		0.677	FAM86A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251713.1	NM_201400		5	99	0	0	0	1	0	5	99					T	5139146	C	T	5139146	3	4	191	1	0	0	0	0	1	0	0	0	5643	768	27	1	146	1	FAM86A	16	5139146	Missense_Mutation	SNP	C	TCGA-G9-A9S7-01A-11D-A41K-08		5139146	85215607	32	8922											
KIAA0430	9665	broad.mit.edu	37	chr16	15705570	15705570	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtgggtaagggtcagcagacGtttggagcccattccaagaa	11	8	14	8	1	1	2	1	0	0	2	2	3	2	3	2	3	2	3	2	3	3	3			TCGA-G9-A9S7-01A-11D-A41K-08	TCGA-G9-A9S7-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e45d5e62-ce70-466d-b4b3-620d70c95651	0f1a5b46-d751-426a-917c-fac53a697f81	g.chr16:15705570G>A	ENST00000396368.3	-	18	3702	c.3496C>T	c.(3496-3498)Cgt>Tgt	p.R1166C	KIAA0430_ENST00000551742.1_Missense_Mutation_p.R1166C|KIAA0430_ENST00000540441.2_Missense_Mutation_p.R1001C|KIAA0430_ENST00000548025.1_Missense_Mutation_p.R1163C|KIAA0430_ENST00000602337.1_Missense_Mutation_p.R1163C|CTB-193M12.1_ENST00000549756.1_RNA|KIAA0430_ENST00000344181.3_Missense_Mutation_p.R768C	NM_001184998.1|NM_001184999.1|NM_014647.3	NP_001171927.1|NP_001171928.1|NP_055462.2	Q9Y4F3	MARF1_HUMAN	KIAA0430	1166	HTH OST-type 3. {ECO:0000255|PROSITE- ProRule:PRU00975}.				double-strand break repair (GO:0006302)|female meiotic division (GO:0007143)|negative regulation of phosphatase activity (GO:0010923)|oogenesis (GO:0048477)|regulation of gene expression (GO:0010468)	membrane (GO:0016020)|peroxisome (GO:0005777)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			breast(4)|endometrium(8)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(5)|skin(1)	40						GTCAGCAGACGTTTGGAGCCC	0.478																																						ENST00000396368.3																			0				breast(4)|endometrium(8)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(5)|skin(1)	40						c.(3496-3498)Cgt>Tgt		KIAA0430							77	76	76					16																	15705570		1902	4119	6021	SO:0001583	missense	9665					peroxisome	nucleotide binding|RNA binding	g.chr16:15705570G>A	AB007890	CCDS10562.2, CCDS53990.1, CCDS55991.1	16p13.11	2013-01-11			ENSG00000166783	ENSG00000166783		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	29562	protein-coding gene	gene with protein product	"limkain b1", "protein phosphatase 1, regulatory subunit 34", "meiosis arrest female 1"	614593				9455477, 10493829, 15932519, 22442484, 23090997	Standard	NM_014647		Approved	LKAP, PPP1R34, Marf1	uc010uzw.2	Q9Y4F3	OTTHUMG00000129884	ENST00000396368.3:c.3496C>T	16.37:g.15705570G>A	ENSP00000379654:p.Arg1166Cys					KIAA0430_ENST00000551742.1_Missense_Mutation_p.R1166C|KIAA0430_ENST00000548025.1_Missense_Mutation_p.R1163C|KIAA0430_ENST00000540441.2_Missense_Mutation_p.R1001C|KIAA0430_ENST00000602337.1_Missense_Mutation_p.R1163C|KIAA0430_ENST00000344181.3_Missense_Mutation_p.R768C	p.R1166C	NM_001184998.1|NM_001184999.1|NM_014647.3	NP_001171927.1|NP_001171928.1|NP_055462.2	Q9Y4F3	LKAP_HUMAN			18	3702	-			1165					A8MSK2|B2RNX2|B4DYY9|B7ZMG1|B7ZMG2|F8VV09|Q6P1R6|Q8WYR2|Q9Y4J9	Missense_Mutation	SNP	ENST00000396368.3	37	c.3496C>T	CCDS10562.2	.	.	.	.	.	.	.	.	.	.	G	26.0	4.699807	0.88924	.	.	ENSG00000166783	ENST00000396368;ENST00000540441;ENST00000321370;ENST00000344181;ENST00000548025;ENST00000551742;ENST00000551298	.	.	.	5.82	3.78	0.43462	.	0.000000	0.85682	D	0.000000	T	0.75774	0.3895	M	0.62723	1.935	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.998;0.999;0.999;0.999	T	0.79351	-0.1839	9	0.87932	D	0	.	14.4832	0.67597	0.0:0.0:0.7331:0.2669	.	1165;1163;1162;1165	Q9Y4F3-5;F8VV09;Q9Y4F3-4;Q9Y4F3	.;.;.;LKAP_HUMAN	C	1166;1001;1106;768;1163;1166;946	.	ENSP00000315718:R1106C	R	-	1	0	KIAA0430	15613071	1.000000	0.71417	0.971000	0.41717	0.997000	0.91878	4.700000	0.61803	1.463000	0.47967	0.643000	0.83706	CGT		0.478	KIAA0430-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252131.2	NM_014647		15	44	0	0	0	1	0	15	44					A	15705570	G	A	15705570	3	1	191	1	0	0	0	0	1	0	0	0	8177	1145	40	1	1772	1	KIAA0430	16	15705570	Missense_Mutation	SNP	G	TCGA-G9-A9S7-01A-11D-A41K-08	10566424	15705570	74649183	33	8923											
CDH16	1014	broad.mit.edu	37	chr16	66946227	66946227	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ctgtgtctcccctctcaatgGcaaaatccatgaggcggaag	10	9	10	12	1	2	1	1	1	2	0	5	2	3	2	3	3	0	1	3	3	4	0			TCGA-G9-A9S7-01A-11D-A41K-08	TCGA-G9-A9S7-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e45d5e62-ce70-466d-b4b3-620d70c95651	0f1a5b46-d751-426a-917c-fac53a697f81	g.chr16:66946227G>A	ENST00000299752.4	-	12	1659	c.1466C>T	c.(1465-1467)gCc>gTc	p.A489V	CDH16_ENST00000568632.1_Missense_Mutation_p.A392V|CDH16_ENST00000570262.1_Missense_Mutation_p.A409V|CDH16_ENST00000565796.1_Missense_Mutation_p.A489V|CDH16_ENST00000394055.3_Missense_Mutation_p.A489V	NM_001204744.1|NM_001204745.1|NM_004062.3	NP_001191673.1|NP_001191674.1|NP_004053.1	O75309	CAD16_HUMAN	cadherin 16, KSP-cadherin	489	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)	basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)			endometrium(1)|kidney(3)|large_intestine(10)|lung(15)|ovary(2)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0877)|Epithelial(162;0.203)		CCTCTCAATGGCAAAATCCAT	0.577																																						ENST00000299752.4																			0				endometrium(1)|kidney(3)|large_intestine(10)|lung(15)|ovary(2)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						c.(1465-1467)gCc>gTc		cadherin 16, KSP-cadherin							98	92	94					16																	66946227		2200	4300	6500	SO:0001583	missense	1014				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr16:66946227G>A	AF016272	CCDS10823.1, CCDS56002.1, CCDS58471.1, CCDS58472.1	16q22.1	2010-01-26			ENSG00000166589	ENSG00000166589		"Cadherins / Major cadherins"	1755	protein-coding gene	gene with protein product		603118				9721215, 7615566	Standard	NM_004062		Approved		uc002eql.3	O75309	OTTHUMG00000137518	ENST00000299752.4:c.1466C>T	16.37:g.66946227G>A	ENSP00000299752:p.Ala489Val					CDH16_ENST00000568632.1_Missense_Mutation_p.A392V|CDH16_ENST00000570262.1_Missense_Mutation_p.A409V|CDH16_ENST00000565796.1_Missense_Mutation_p.A489V|CDH16_ENST00000394055.3_Missense_Mutation_p.A489V	p.A489V	NM_001204744.1|NM_001204745.1|NM_004062.3	NP_001191673.1|NP_001191674.1|NP_004053.1	O75309	CAD16_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0877)|Epithelial(162;0.203)	12	1659	-		Ovarian(137;0.0563)	489			Cadherin 5.		B4DPA8|H3BPD3|Q6UW93	Missense_Mutation	SNP	ENST00000299752.4	37	c.1466C>T	CCDS10823.1	.	.	.	.	.	.	.	.	.	.	G	10.72	1.430181	0.25726	.	.	ENSG00000166589	ENST00000394055;ENST00000299752;ENST00000544875	T;T	0.53857	0.6;0.6	4.69	4.69	0.59074	Cadherin (4);Cadherin-like (1);	0.506506	0.21528	N	0.073093	T	0.48607	0.1509	L	0.53249	1.67	0.38726	D	0.953552	P;P;P	0.46859	0.617;0.885;0.72	B;B;B	0.42625	0.178;0.393;0.342	T	0.50474	-0.8824	10	0.27785	T	0.31	-10.2196	12.9978	0.58657	0.0:0.0:1.0:0.0	.	489;489;489	O75309-2;B2R7S8;O75309	.;.;CAD16_HUMAN	V	489;489;453	ENSP00000377619:A489V;ENSP00000299752:A489V	ENSP00000299752:A489V	A	-	2	0	CDH16	65503728	1.000000	0.71417	1.000000	0.80357	0.630000	0.37929	2.617000	0.46385	2.457000	0.83068	0.462000	0.41574	GCC		0.577	CDH16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268839.2	NM_004062		3	58	0	0	0	1	0	3	58					A	66946227	G	A	66946227	3	1	191	1	0	0	0	0	1	0	0	0	3101	1203	42	3	1051	3	CDH16	16	66946227	Missense_Mutation	SNP	G	TCGA-G9-A9S7-01A-11D-A41K-08	51240657	66946227	23408526	34	8924											
RLTPR	146206	broad.mit.edu	37	chr16	67685883	67685883	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cattgtggctcaggctttggCaggcctgagtgcagcccggg	5	9	16	11	1	1	1	1	1	0	0	1	1	1	1	2	5	2	4	2	5	0	2			TCGA-G9-A9S7-01A-11D-A41K-08	TCGA-G9-A9S7-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e45d5e62-ce70-466d-b4b3-620d70c95651	0f1a5b46-d751-426a-917c-fac53a697f81	g.chr16:67685883C>T	ENST00000334583.6	+	26	2976	c.2648C>T	c.(2647-2649)gCa>gTa	p.A883V	RLTPR_ENST00000545661.1_Missense_Mutation_p.A847V	NM_001013838.1	NP_001013860.1	Q6F5E8	LR16C_HUMAN	RGD motif, leucine rich repeats, tropomodulin domain and proline-rich containing	883					cell migration (GO:0016477)|establishment of protein localization (GO:0045184)|homeostasis of number of cells (GO:0048872)|maintenance of cell polarity (GO:0030011)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interferon-gamma secretion (GO:1902715)|positive regulation of interleukin-2 secretion (GO:1900042)|positive regulation of regulatory T cell differentiation (GO:0045591)|positive regulation of T cell proliferation (GO:0042102)|T cell receptor signaling pathway (GO:0050852)|thymus development (GO:0048538)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|F-actin capping protein complex (GO:0008290)|immunological synapse (GO:0001772)|membrane (GO:0016020)				breast(1)|cervix(1)|endometrium(4)|kidney(1)|lung(9)|urinary_tract(2)	18		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0146)|Epithelial(162;0.0481)|all cancers(182;0.232)		CAGGCTTTGGCAGGCCTGAGT	0.587																																						ENST00000334583.6																			0				breast(1)|cervix(1)|endometrium(4)|kidney(1)|lung(9)|urinary_tract(2)	18						c.(2647-2649)gCa>gTa		RGD motif, leucine rich repeats, tropomodulin domain and proline-rich containing							122	130	128					16																	67685883		2149	4260	6409	SO:0001583	missense	146206							g.chr16:67685883C>T	AB113647	CCDS45513.1	16q22.1	2010-09-10				ENSG00000159753			27089	protein-coding gene	gene with protein product	"RGD, leucine-rich repeat, tropomodulin and proline-rich containing protein", "leucine rich repeat containing 16C"	610859				15588584, 19846667	Standard	XM_005255807		Approved	LRRC16C, CARMIL2	uc002etn.3	Q6F5E8		ENST00000334583.6:c.2648C>T	16.37:g.67685883C>T	ENSP00000334958:p.Ala883Val					RLTPR_ENST00000545661.1_Missense_Mutation_p.A847V	p.A883V	NM_001013838.1	NP_001013860.1	Q6F5E8	LR16C_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0146)|Epithelial(162;0.0481)|all cancers(182;0.232)	26	2976	+		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)	883					B8X2Z3	Missense_Mutation	SNP	ENST00000334583.6	37	c.2648C>T	CCDS45513.1	.	.	.	.	.	.	.	.	.	.	C	14.02	2.410723	0.42817	.	.	ENSG00000159753	ENST00000334583;ENST00000545661	T;T	0.13657	2.58;2.57	4.85	-3.07	0.05363	.	0.408447	0.20898	N	0.083689	T	0.10465	0.0256	L	0.51422	1.61	0.09310	N	1	P;P	0.48764	0.915;0.915	B;B	0.42692	0.395;0.3	T	0.16808	-1.0390	10	0.45353	T	0.12	-5.5639	5.5226	0.16941	0.5979:0.225:0.0:0.1771	.	847;883	B8X2Z3;Q6F5E8	.;LR16C_HUMAN	V	883;847	ENSP00000334958:A883V;ENSP00000441481:A847V	ENSP00000334958:A883V	A	+	2	0	RLTPR	66243384	0.023000	0.18921	0.102000	0.21198	0.644000	0.38419	-0.001000	0.12947	-0.286000	0.09076	-0.181000	0.13052	GCA		0.587	RLTPR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000467858.1	NM_001013838		5	113	0	0	0	1	0	5	113					T	67685883	C	T	67685883	3	4	191	1	0	0	0	0	1	0	0	0	13394	710	25	3	2750	3	RLTPR	16	67685883	Missense_Mutation	SNP	C	TCGA-G9-A9S7-01A-11D-A41K-08	739656	67685883	22668870	35	8925											
MUC16	94025	broad.mit.edu	37	chr19	9088094	9088094	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtttgttgattcagggtaggTgctgagggttggaagtcccc	6	13	16	6	0	1	2	1	2	0	0	2	3	2	3	2	4	1	5	2	4	2	5			TCGA-G9-A9S7-01A-11D-A41K-08	TCGA-G9-A9S7-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e45d5e62-ce70-466d-b4b3-620d70c95651	0f1a5b46-d751-426a-917c-fac53a697f81	g.chr19:9088094T>A	ENST00000397910.4	-	1	3924	c.3721A>T	c.(3721-3723)Acc>Tcc	p.T1241S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	1241	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TCAGGGTAGGTGCTGAGGGTT	0.507																																						ENST00000397910.4																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(3721-3723)Acc>Tcc		mucin 16, cell surface associated							366	359	361					19																	9088094		2115	4243	6358	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9088094T>A	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.3721A>T	19.37:g.9088094T>A	ENSP00000381008:p.Thr1241Ser						p.T1241S	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			1	3924	-			1241			Thr-rich.		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.3721A>T	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	t	4.659	0.122429	0.08931	.	.	ENSG00000181143	ENST00000397910	T	0.02369	4.32	1.38	-0.928	0.10448	.	.	.	.	.	T	0.01287	0.0042	N	0.08118	0	.	.	.	P	0.39424	0.673	B	0.28916	0.096	T	0.46414	-0.9193	8	0.87932	D	0	.	4.2245	0.10574	0.0:0.4872:0.0:0.5128	.	1241	B5ME49	.	S	1241	ENSP00000381008:T1241S	ENSP00000381008:T1241S	T	-	1	0	MUC16	8949094	0.000000	0.05858	0.000000	0.03702	0.116000	0.19942	-1.329000	0.02677	-0.377000	0.07930	0.254000	0.18369	ACC		0.507	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		5	277	0	0	0	1	0	5	277					A	9088094	T	A	9088094	3	1	191	1	0	0	0	0	1	0	0	0	9973	1696	59	5	40138	5	MUC16	19	9088094	Missense_Mutation	SNP	T	TCGA-G9-A9S7-01A-11D-A41K-08		9088094	50040889	36	8926											
U2AF1	7307	broad.mit.edu	37	chr21	44524456	44524456	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcggtttattgtgcaaccgaGagcacctgtctccatgacga	9	11	10	11	3	1	2	0	1	1	1	3	4	1	2	3	1	3	3	3	1	2	3	rs371769427		TCGA-G9-A9S7-01A-11D-A41K-08	TCGA-G9-A9S7-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e45d5e62-ce70-466d-b4b3-620d70c95651	0f1a5b46-d751-426a-917c-fac53a697f81	g.chr21:44524456G>A	ENST00000291552.4	-	2	193	c.101C>T	c.(100-102)tCt>tTt	p.S34F	U2AF1_ENST00000380276.2_Missense_Mutation_p.S34F|U2AF1_ENST00000459639.1_5'UTR|U2AF1_ENST00000398137.1_5'UTR|U2AF1_ENST00000486519.1_5'UTR	NM_006758.2	NP_006749.1	Q01081	U2AF1_HUMAN	U2 small nuclear RNA auxiliary factor 1	34					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	Cajal body (GO:0015030)|catalytic step 2 spliceosome (GO:0071013)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.S34F(45)|p.S34Y(12)		breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(111)|large_intestine(2)|lung(7)|prostate(2)|skin(1)	126						GTGCAACCGAGAGCACCTGTC	0.358			Mis		"CLL, MDS"																																	ENST00000291552.4				Dom	yes		21	21q22.3	7307	Mis	U2 small nuclear RNA auxiliary factor 1			L			"CLL, MDS"		57	Substitution - Missense(57)	p.S34F(45)|p.S34Y(12)	haematopoietic_and_lymphoid_tissue(43)|lung(12)|endometrium(2)	breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(111)|large_intestine(2)|lung(7)|prostate(2)|skin(1)	126						c.(100-102)tCt>tTt		U2 small nuclear RNA auxiliary factor 1		G	PHE/SER,PHE/SER,	1,4405		0,1,2202	67	64	65		101,101,	5.5	1	21		65	0,8600		0,0,4300	no	missense,missense,utr-5	U2AF1	NM_001025203.1,NM_006758.2,NM_001025204.1	155,155,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging,	34/241,34/241,	44524456	1,13005	2203	4300	6503	SO:0001583	missense	7307				mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription	Cajal body|catalytic step 2 spliceosome|nuclear speck	nucleotide binding|RNA binding|zinc ion binding	g.chr21:44524456G>A	BC001177	CCDS13694.1, CCDS33574.1, CCDS42948.1	21q22.3	2014-09-17	2006-04-11		ENSG00000160201	ENSG00000160201		"RNA binding motif (RRM) containing"	12453	protein-coding gene	gene with protein product		191317	"U2(RNU2) small nuclear RNA auxiliary factor binding protein", "U2(RNU2) small nuclear RNA auxiliary factor 1"	U2AFBP		8660980, 7956352	Standard	NM_006758		Approved	U2AF35, RNU2AF1, RN	uc002zdb.1	Q01081	OTTHUMG00000086836	ENST00000291552.4:c.101C>T	21.37:g.44524456G>A	ENSP00000291552:p.Ser34Phe					U2AF1_ENST00000459639.1_5'UTR|U2AF1_ENST00000398137.1_5'UTR|U2AF1_ENST00000380276.2_Missense_Mutation_p.S34F|U2AF1_ENST00000486519.1_5'UTR	p.S34F	NM_006758.2	NP_006749.1	Q01081	U2AF1_HUMAN			2	193	-			34					Q701P4|Q71RF1	Missense_Mutation	SNP	ENST00000291552.4	37	c.101C>T	CCDS13694.1	.	.	.	.	.	.	.	.	.	.	G	29.7	5.025187	0.93518	2.27E-4	0.0	ENSG00000160201	ENST00000380276;ENST00000291552	T;T	0.46063	0.88;0.88	5.47	5.47	0.80525	Zinc finger, CCCH-type (3);	0.000000	0.85682	D	0.000000	T	0.77239	0.4101	H	0.96430	3.82	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.997;0.997	D	0.84864	0.0821	10	0.87932	D	0	-15.7954	19.3169	0.94218	0.0:0.0:1.0:0.0	.	34;34;34	Q69YM7;Q01081;Q701P4	.;U2AF1_HUMAN;.	F	34	ENSP00000369629:S34F;ENSP00000291552:S34F	ENSP00000291552:S34F	S	-	2	0	U2AF1	43397525	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.864000	0.92294	2.560000	0.86352	0.563000	0.77884	TCT		0.358	U2AF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000195541.1	NM_006758		8	24	0	0	0	1	0	8	24					A	44524456	G	A	44524456	3	1	191	1	0	0	0	0	1	0	0	0	16818	942	33	3	720	3	U2AF1	21	44524456	Missense_Mutation	SNP	G	TCGA-G9-A9S7-01A-11D-A41K-08		44524456	3605439	37	8927											
PICK1	9463	broad.mit.edu	37	chr22	38468599	38468599	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagaagttcggcattcggctTctgaaaaccatcaagccggt	11	9	11	10	3	2	2	1	1	1	1	4	3	2	2	2	3	2	3	2	3	4	3			TCGA-G9-A9S7-01A-11D-A41K-08	TCGA-G9-A9S7-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e45d5e62-ce70-466d-b4b3-620d70c95651	0f1a5b46-d751-426a-917c-fac53a697f81	g.chr22:38468599T>A	ENST00000404072.3	+	9	1019	c.672T>A	c.(670-672)ctT>ctA	p.L224L	RP5-1039K5.13_ENST00000445483.1_RNA|PICK1_ENST00000356976.3_Silent_p.L224L	NM_001039583.1|NM_001039584.1	NP_001034672.1|NP_001034673.1	Q9NRD5	PICK1_HUMAN	protein interacting with PRKCA 1	224	AH. {ECO:0000255|PROSITE- ProRule:PRU00294}.				ATP catabolic process (GO:0006200)|cellular response to decreased oxygen levels (GO:0036294)|cellular response to glucose starvation (GO:0042149)|dendritic spine maintenance (GO:0097062)|dendritic spine organization (GO:0097061)|DNA methylation involved in embryo development (GO:0043045)|DNA methylation involved in gamete generation (GO:0043046)|glial cell development (GO:0021782)|long term synaptic depression (GO:0060292)|monoamine transport (GO:0015844)|negative regulation of Arp2/3 complex-mediated actin nucleation (GO:0034316)|neuronal ion channel clustering (GO:0045161)|positive regulation of receptor internalization (GO:0002092)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein phosphorylation (GO:0006468)|protein targeting (GO:0006605)|receptor clustering (GO:0043113)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|endocytic vesicle membrane (GO:0030666)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|neuronal postsynaptic density (GO:0097481)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|synapse (GO:0045202)	actin filament binding (GO:0051015)|Arp2/3 complex binding (GO:0071933)|ATPase activity (GO:0016887)|enzyme binding (GO:0019899)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)|protein kinase C binding (GO:0005080)|receptor binding (GO:0005102)			cervix(1)|endometrium(3)|large_intestine(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	13	Melanoma(58;0.045)					GCATTCGGCTTCTGAAAACCA	0.597																																						ENST00000404072.3																			0				cervix(1)|endometrium(3)|large_intestine(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	13						c.(670-672)ctT>ctA		protein interacting with PRKCA 1							78	78	78					22																	38468599		2203	4300	6503	SO:0001819	synonymous_variant	9463				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|DNA methylation involved in embryo development|DNA methylation involved in gamete generation|monoamine transport|neuronal ion channel clustering|protein phosphorylation|receptor clustering|retrograde vesicle-mediated transport, Golgi to ER|synaptic transmission	cell junction|endocytic vesicle membrane|Golgi apparatus|perinuclear region of cytoplasm|presynaptic membrane	ATPase activity|metal ion binding|protein C-terminus binding|protein kinase C binding|receptor binding	g.chr22:38468599T>A	AL049654	CCDS13965.1	22q13.1	2006-02-14	2006-02-14	2006-02-14	ENSG00000100151	ENSG00000100151			9394	protein-coding gene	gene with protein product		605926	"protein kinase C, alpha binding protein", "protein interacting with PRKCA"	PRKCABP		10340301, 10591208	Standard	XM_006724377		Approved	dJ1039K5, MGC15204	uc003aus.3	Q9NRD5	OTTHUMG00000151159	ENST00000404072.3:c.672T>A	22.37:g.38468599T>A						PICK1_ENST00000356976.3_Silent_p.L224L|RP5-1039K5.13_ENST00000445483.1_RNA	p.L224L	NM_001039583.1|NM_001039584.1	NP_001034672.1|NP_001034673.1	Q9NRD5	PICK1_HUMAN			9	1019	+	Melanoma(58;0.045)		224			AH.		B3KS52|O95906	Silent	SNP	ENST00000404072.3	37	c.672T>A	CCDS13965.1																																																																																				0.597	PICK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321569.2	NM_012407		30	84	0	0	0	1	0	30	84					A	38468599	T	A	38468599	2	1	191	1	0	0	0	0	0	0	0	1	11881	1770	62	5		5	PICK1	22	38468599	Silent	SNP	T	TCGA-G9-A9S7-01A-11D-A41K-08		38468599	12835967	38	8928											
TGIF2LY	90655	broad.mit.edu	37	chrY	3447294	3447294	+	Silent	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctctttgaatatggaggcCgctgcagacggcccggctga	7	8	14	12	3	1	3	0	2	1	1	1	4	1	4	3	4	1	3	3	4	2	2			TCGA-G9-A9S7-01A-11D-A41K-08	TCGA-G9-A9S7-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e45d5e62-ce70-466d-b4b3-620d70c95651	0f1a5b46-d751-426a-917c-fac53a697f81	g.chrY:3447294C>G	ENST00000559055.2	+	1	139	c.9C>G	c.(7-9)gcC>gcG	p.A3A	TGIF2LY_ENST00000321217.4_Silent_p.A3A			Q8IUE0	TF2LY_HUMAN	TGFB-induced factor homeobox 2-like, Y-linked	3					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			kidney(1)|upper_aerodigestive_tract(1)	2						ATATGGAGGCCGCTGCAGACG	0.507																																						ENST00000559055.2																			0				kidney(1)|upper_aerodigestive_tract(1)	2						c.(7-9)gcC>gcG		TGFB-induced factor homeobox 2-like, Y-linked																																				SO:0001819	synonymous_variant	90655					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chrY:3447294C>G	AF332223	CCDS14775.1	Yp11.2	2011-06-20	2007-02-07		ENSG00000176679	ENSG00000176679		"Homeoboxes / TALE class"	18569	protein-coding gene	gene with protein product		400025	"TGFB-induced factor 2-like, Y-linked"				Standard	NM_139214		Approved		uc004fqk.3	Q8IUE0	OTTHUMG00000036153	ENST00000559055.2:c.9C>G	Y.37:g.3447294C>G						TGIF2LY_ENST00000321217.4_Silent_p.A3A	p.A3A			Q8IUE0	TF2LY_HUMAN			1	139	+			3					A2VCU1	Silent	SNP	ENST00000559055.2	37	c.9C>G	CCDS14775.1																																																																																				0.507	TGIF2LY-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417915.2	NM_139214		4	10	0	0	0	1	0	4	10					G	3447294	C	G	3447294	2	3	191	1	0	0	0	0	0	0	0	1	15825	639	23	5		5	TGIF2LY	24	3447294	Silent	SNP	C	TCGA-G9-A9S7-01A-11D-A41K-08		3447294	55926272	39	8929											
EXOSC10	5394	broad.mit.edu	37	chr1	11137678	11137678	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcagcactgggcagcggtcCgctcttcttcactccggctg	4	10	11	16	3	4	0	2	0	2	0	6	0	6	0	2	3	2	4	2	3	0	2	rs530179972		TCGA-H9-7775-01A-11D-2114-08	TCGA-H9-7775-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cff41f62-8849-4654-807b-f02b1b04ba18	4992a5df-2ae7-4480-99ab-b908b3cdf96e	g.chr1:11137678C>T	ENST00000376936.4	-	15	1829	c.1780G>A	c.(1780-1782)Gga>Aga	p.G594R	EXOSC10_ENST00000304457.7_Missense_Mutation_p.G594R|EXOSC10_ENST00000544779.1_Missense_Mutation_p.G594R	NM_001001998.1	NP_001001998.1	Q01780	EXOSX_HUMAN	exosome component 10	594					CUT catabolic process (GO:0071034)|dosage compensation by inactivation of X chromosome (GO:0009048)|histone mRNA catabolic process (GO:0071044)|maturation of 5.8S rRNA (GO:0000460)|nuclear mRNA surveillance (GO:0071028)|nuclear polyadenylation-dependent rRNA catabolic process (GO:0071035)|nuclear retention of unspliced pre-mRNA at the site of transcription (GO:0071048)|nuclear-transcribed mRNA catabolic process (GO:0000956)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)	cytoplasm (GO:0005737)|exosome (RNase complex) (GO:0000178)|membrane (GO:0016020)|nuclear exosome (RNase complex) (GO:0000176)|nucleolus (GO:0005730)|nucleus (GO:0005634)|transcriptionally active chromatin (GO:0035327)	3'-5' exonuclease activity (GO:0008408)|exoribonuclease activity (GO:0004532)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|stomach(3)|upper_aerodigestive_tract(1)	27	Ovarian(185;0.249)	Lung NSC(185;1.74e-05)|all_lung(284;2.05e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;4.18e-07)|COAD - Colon adenocarcinoma(227;8.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000315)|Kidney(185;0.000832)|KIRC - Kidney renal clear cell carcinoma(229;0.00269)|READ - Rectum adenocarcinoma(331;0.0526)|STAD - Stomach adenocarcinoma(313;0.202)		GGCAGCGGTCCGCTCTTCTTC	0.542													C|||	1	0.000199681	8e-04	0	5008	,	,		17799	0		0	False		,,,				2504	0				Colon(179;105 1987 14326 27364 29542)	ENST00000544779.1																			0				central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|stomach(3)|upper_aerodigestive_tract(1)	27						c.(1780-1782)Gga>Aga		exosome component 10							77	74	75					1																	11137678		2203	4300	6503	SO:0001583	missense	5394				CUT catabolic process|histone mRNA catabolic process|maturation of 5.8S rRNA|nuclear polyadenylation-dependent rRNA catabolic process|nuclear retention of unspliced pre-mRNA at the site of transcription|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytoplasm|nuclear exosome (RNase complex)|nucleolus|transcriptionally active chromatin	3'-5' exonuclease activity|exoribonuclease activity|identical protein binding|nucleotide binding|protein serine/threonine kinase activity|RNA binding	g.chr1:11137678C>T	BC073788	CCDS126.1, CCDS30584.1	1p36.22	2008-02-05	2004-06-16	2004-06-18	ENSG00000171824	ENSG00000171824			9138	protein-coding gene	gene with protein product	"polymyositis/scleroderma autoantigen 2 (100kD)"	605960	"polymyositis/scleroderma autoantigen 2, 100kDa"	PMSCL2		1383382, 1644924	Standard	NM_001001998		Approved	PM-Scl, PM/Scl-100, Rrp6p, RRP6, p2, p3, p4	uc001asa.3	Q01780	OTTHUMG00000002123	ENST00000376936.4:c.1780G>A	1.37:g.11137678C>T	ENSP00000366135:p.Gly594Arg					EXOSC10_ENST00000304457.7_Missense_Mutation_p.G594R|EXOSC10_ENST00000376936.4_Missense_Mutation_p.G594R	p.G594R			Q01780	EXOSX_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;4.18e-07)|COAD - Colon adenocarcinoma(227;8.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000315)|Kidney(185;0.000832)|KIRC - Kidney renal clear cell carcinoma(229;0.00269)|READ - Rectum adenocarcinoma(331;0.0526)|STAD - Stomach adenocarcinoma(313;0.202)	15	1785	-	Ovarian(185;0.249)	Lung NSC(185;1.74e-05)|all_lung(284;2.05e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	594					B1AKQ0|B1AKQ1|Q15158	Missense_Mutation	SNP	ENST00000376936.4	37	c.1780G>A	CCDS30584.1	.	.	.	.	.	.	.	.	.	.	C	9.444	1.088930	0.20390	.	.	ENSG00000171824	ENST00000376936;ENST00000304457;ENST00000544779	.	.	.	4.93	3.01	0.34805	HRDC-like (1);	0.436541	0.26210	N	0.025689	T	0.28200	0.0696	L	0.31926	0.97	0.09310	N	1	B;B	0.13145	0.006;0.007	B;B	0.12156	0.007;0.003	T	0.15838	-1.0423	9	0.12766	T	0.61	-20.8616	10.9412	0.47275	0.0:0.7779:0.0:0.2221	.	594;594	Q01780-2;Q01780	.;EXOSX_HUMAN	R	594	.	ENSP00000307307:G594R	G	-	1	0	EXOSC10	11060265	0.016000	0.18221	0.041000	0.18516	0.505000	0.33919	0.716000	0.25836	1.192000	0.43071	0.563000	0.77884	GGA		0.542	EXOSC10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000006078.1	NM_001001998		6	62	0	0	0	1	0	6	62					T	11137678	C	T	11137678	3	4	192	1	0	0	0	0	1	0	0	0	5314	661	23	2	921	2	EXOSC10	1	11137678	Missense_Mutation	SNP	C	TCGA-H9-7775-01A-11D-2114-08		11137678	238112943	1	8930											
EIF3I	56063	broad.mit.edu	37	chr1	32690027	32690027	+	5'Flank	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tcaggggacaccaagcatgtCctcactggctcagctgacaa	11	7	10	13	0	3	1	3	1	0	0	4	2	4	2	2	3	2	3	2	3	2	0			TCGA-H9-7775-01A-11D-2114-08	TCGA-H9-7775-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cff41f62-8849-4654-807b-f02b1b04ba18	4992a5df-2ae7-4480-99ab-b908b3cdf96e	g.chr1:32690027C>T	ENST00000344461.3	-	0	0				TMEM234_ENST00000309777.6_5'Flank|EIF3I_ENST00000373586.1_Silent_p.V67V|TMEM234_ENST00000545122.1_5'Flank|EIF3I_ENST00000471486.1_3'UTR|TMEM234_ENST00000373593.1_5'Flank			Q8WY98	TM234_HUMAN	transmembrane protein 234							integral component of membrane (GO:0016021)				kidney(2)|lung(3)	5						CCAAGCATGTCCTCACTGGCT	0.483																																						ENST00000373586.1																			0				breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12						c.(199-201)gtC>gtT		eukaryotic translation initiation factor 3, subunit I							103	91	95					1																	32690027		2203	4300	6503	SO:0001631	upstream_gene_variant	8668					cytosol|eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity	g.chr1:32690027C>T	AY358586	CCDS356.2	1p36.11-p34.2	2011-02-14	2011-02-14	2011-02-14	ENSG00000160055	ENSG00000160055			28837	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 91"	C1orf91		12477932	Standard	XM_005271045		Approved	RP4-622L5, dJ622L5.7, FLJ90779	uc001buq.4	Q8WY98	OTTHUMG00000005742		1.37:g.32690027C>T	Exception_encountered					EIF3I_ENST00000471486.1_3'UTR	p.V67V	NM_003757.2	NP_003748.1	Q13347	EIF3I_HUMAN			4	273	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.212)	67					B2R535|D3DPP7|Q6UWY9|Q8N2H6|Q9BSR2|Q9NU76	Silent	SNP	ENST00000344461.3	37	c.201C>T																																																																																					0.483	TMEM234-009	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000092260.2	NM_019118		6	80	0	0	0	1	0	6	80					T	32690027	C	T	32690027	1	4	192	0	1	0	0	0	0	0	0	0	5019	842	30	3		3	EIF3I	1	32690027	5'Flank	SNP	C	TCGA-H9-7775-01A-11D-2114-08	21552349	32690027	216560594	2	8931											
INADL	10207	broad.mit.edu	37	chr1	62253580	62253580	+	Frame_Shift_Del	DEL	C	C	-																															agctggtgacatttcagtcaCcccccctgcccctgcagcct																										TCGA-H9-7775-01A-11D-2114-08	TCGA-H9-7775-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cff41f62-8849-4654-807b-f02b1b04ba18	4992a5df-2ae7-4480-99ab-b908b3cdf96e	g.chr1:62253580delC	ENST00000371158.2	+	8	1118	c.1004delC	c.(1003-1005)accfs	p.T335fs	INADL_ENST00000316485.6_Frame_Shift_Del_p.T335fs	NM_176877.2	NP_795352	Q8NI35	INADL_HUMAN	InaD-like (Drosophila)	335					cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|intracellular signal transduction (GO:0035556)|tight junction assembly (GO:0070830)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|tight junction (GO:0005923)				breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)	103						ATTTCAGTCACCCCCCCTGCC	0.502																																						ENST00000371158.2																			0				breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)	103						c.(1003-1005)acfs		InaD-like (Drosophila)				0,4266		0,0,2133	94	83	87			2.8	0.2	1		86	3,8251		0,3,4124	no	frameshift	INADL	NM_176877.2		0,3,6257	A1A1,A1R,RR		0.0363,0.0,0.024			62253580	3,12517	2203	4300	6503	SO:0001589	frameshift_variant	10207				intracellular signal transduction|tight junction assembly	apical plasma membrane|perinuclear region of cytoplasm|tight junction	protein binding	g.chr1:62253580delC	AB044807	CCDS617.2	1p31	2008-02-05			ENSG00000132849	ENSG00000132849			28881	protein-coding gene	gene with protein product		603199				9280290, 11374908	Standard	NM_176877		Approved	Cipp, PATJ	uc001dab.3	Q8NI35	OTTHUMG00000008560	ENST00000371158.2:c.1004delC	1.37:g.62253580delC	ENSP00000360200:p.Thr335fs					INADL_ENST00000316485.6_Frame_Shift_Del_p.T335fs	p.T335fs	NM_176877.2	NP_795352.2	Q8NI35	INADL_HUMAN			8	1118	+			335					O15249|O43742|O60833|Q5VUA5|Q5VUA6|Q5VUA7|Q5VUA8|Q5VUA9|Q5VUB0|Q8WU78|Q9H3N9	Frame_Shift_Del	DEL	ENST00000371158.2	37	c.1004delC	CCDS617.2																																																																																				0.502	INADL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023639.2	NM_170605		7	137						7	137	---	---	---	---	-	62253580	C	-	62253580	7	5	192	1	0	1	0	1	0	0	0	0	7731	507	18	0	1030	0	INADL	1	62253580	Frame_Shift_Del	DEL	C	TCGA-H9-7775-01A-11D-2114-08	29563553	62253580	186997041	3	8932											
TNNI3K	100526835	broad.mit.edu	37	chr1	74929125	74929125	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	catgaccatttggtttgcagCggctgcggcagcagacatgg	8	9	14	10	2	0	2	0	1	0	1	0	2	0	2	1	4	4	5	1	4	0	2	rs201064243		TCGA-H9-7775-01A-11D-2114-08	TCGA-H9-7775-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cff41f62-8849-4654-807b-f02b1b04ba18	4992a5df-2ae7-4480-99ab-b908b3cdf96e	g.chr1:74929125C>T	ENST00000370899.3	+	23	2352	c.2315C>T	c.(2314-2316)gCg>gTg	p.A772V	FPGT-TNNI3K_ENST00000557284.2_Splice_Site_p.A785V|TNNI3K_ENST00000370891.2_Splice_Site_p.A772V|TNNI3K_ENST00000326637.3_Splice_Site_p.A671V	NM_001199327.1	NP_001186256			FPGT-TNNI3K readthrough									p.A671E(1)									TGGTTTGCAGCGGCTGCGGCA	0.443																																						ENST00000370891.2																			1	Substitution - Missense(1)	p.A671E(1)	lung(1)	cervix(1)|endometrium(3)|kidney(5)|large_intestine(21)|lung(31)|ovary(4)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	76						c.e23-1		TNNI3 interacting kinase							140	138	139					1																	74929125		2203	4300	6503	SO:0001630	splice_region_variant	51086							g.chr1:74929125C>T			1p31.3	2014-03-14			ENSG00000259030	ENSG00000259030			42952	other	readthrough							Standard	NM_001112808		Approved		uc001dge.2		OTTHUMG00000166281	ENST00000370899.3:c.2315-1C>T	1.37:g.74929125C>T						TNNI3K_ENST00000326637.3_Splice_Site_p.A671_splice|FPGT-TNNI3K_ENST00000557284.1_Splice_Site_p.A772_splice|FPGT-TNNI3K_ENST00000370899.3_Splice_Site_p.A772_splice	p.A772_splice	NM_001112808.2	NP_001106279.1					23	2331	+									Splice_Site	SNP	ENST00000370899.3	37	c.2314_splice		.	.	.	.	.	.	.	.	.	.	C	19.01	3.743075	0.69418	.	.	ENSG00000259030;ENSG00000259030;ENSG00000116783;ENSG00000116783	ENST00000370899;ENST00000557284;ENST00000370891;ENST00000326637	D;D;D;D	0.82984	-1.67;-1.67;-1.67;-1.67	5.91	5.0	0.66597	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.054457	0.64402	D	0.000001	T	0.79149	0.4397	N	0.17723	0.515	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.998;0.998	T	0.80238	-0.1465	9	.	.	.	.	14.5877	0.68339	0.0:0.9296:0.0:0.0704	.	671;772;772	Q59H18;Q59H18-1;Q59H18-4	TNI3K_HUMAN;.;.	V	772;772;772;671	ENSP00000359936:A772V;ENSP00000450895:A772V;ENSP00000359928:A772V;ENSP00000322251:A671V	.	A	+	2	0	RP11-653A5.2;AC093158.1	74701713	1.000000	0.71417	1.000000	0.80357	0.835000	0.47333	4.392000	0.59659	1.506000	0.48736	0.655000	0.94253	GCG		0.443	FPGT-TNNI3K-003	NOVEL	basic|appris_candidate|readthrough_transcript|exp_conf	protein_coding	protein_coding	OTTHUMT00000026438.3		Missense_Mutation	8	181	0	0	0	1	0	8	181					T	74929125	C	T	74929125	5	4	192	1	0	0	0	0	0	0	1	0	16326	782	27	1	2449	1	TNNI3K	1	74929125	Splice_Site	SNP	C	TCGA-H9-7775-01A-11D-2114-08	12675545	74929125	174321496	4	8933											
CRP	1401	broad.mit.edu	37	chr1	159683405	159683405	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acattaggactgaagggcccGccaagatagatggtgttaat	13	9	12	7	1	0	3	0	1	0	2	0	4	0	4	2	3	0	1	2	3	5	3			TCGA-H9-7775-01A-11D-2114-08	TCGA-H9-7775-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cff41f62-8849-4654-807b-f02b1b04ba18	4992a5df-2ae7-4480-99ab-b908b3cdf96e	g.chr1:159683405G>A	ENST00000255030.5	-	2	688	c.585C>T	c.(583-585)ggC>ggT	p.G195G	CRP_ENST00000368111.1_Silent_p.G73G|CRP_ENST00000368112.1_Intron|CRP_ENST00000368110.1_Silent_p.G73G|CRP_ENST00000437342.1_Silent_p.G17G|CRP_ENST00000343919.2_Silent_p.G73G|CRP_ENST00000473196.1_5'UTR	NM_000567.2	NP_000558.2	P02741	CRP_HUMAN	C-reactive protein, pentraxin-related	195	Pentaxin.				acute-phase response (GO:0006953)|aging (GO:0007568)|cellular response to calcium ion (GO:0071277)|complement activation, classical pathway (GO:0006958)|defense response to Gram-positive bacterium (GO:0050830)|inflammatory response (GO:0006954)|negative regulation of lipid storage (GO:0010888)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|opsonization (GO:0008228)|positive regulation of dendrite development (GO:1900006)|protein polymerization (GO:0051258)|regulation of interleukin-8 secretion (GO:2000482)|response to ethanol (GO:0045471)|response to hypoxia (GO:0001666)|response to lead ion (GO:0010288)|wound healing (GO:0042060)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|growth cone (GO:0030426)	calcium ion binding (GO:0005509)|cholesterol binding (GO:0015485)|choline binding (GO:0033265)|complement component C1q binding (GO:0001849)|low-density lipoprotein particle binding (GO:0030169)			breast(1)|endometrium(3)|kidney(1)|lung(15)|ovary(1)|skin(1)	22	all_hematologic(112;0.0429)				inhaled insulin(DB05278)	TGAAGGGCCCGCCAAGATAGA	0.532																																						ENST00000255030.5																			0				breast(1)|endometrium(3)|kidney(1)|lung(15)|ovary(1)|skin(1)	22						c.(583-585)ggC>ggT		C-reactive protein, pentraxin-related	Atorvastatin(DB01076)|Bezafibrate(DB01393)						87	88	88					1																	159683405		2203	4300	6503	SO:0001819	synonymous_variant	1401				acute-phase response|negative regulation of lipid storage|negative regulation of macrophage derived foam cell differentiation|opsonization		choline binding|Gram-positive bacterial cell surface binding|low-density lipoprotein particle binding|metal ion binding|protein binding	g.chr1:159683405G>A	M11725	CCDS30911.1	1q23.2	2013-05-13			ENSG00000132693	ENSG00000132693			2367	protein-coding gene	gene with protein product	"pentraxin 1"	123260				3840479, 6857266	Standard	NM_000567		Approved	PTX1	uc001ftw.3	P02741	OTTHUMG00000035344	ENST00000255030.5:c.585C>T	1.37:g.159683405G>A						CRP_ENST00000368110.1_Silent_p.G73G|CRP_ENST00000343919.2_Silent_p.G73G|CRP_ENST00000437342.1_Silent_p.G17G|CRP_ENST00000368111.1_Silent_p.G73G|CRP_ENST00000368112.1_Intron|CRP_ENST00000473196.1_5'UTR	p.G195G	NM_000567.2	NP_000558.2	P02741	CRP_HUMAN			2	688	-	all_hematologic(112;0.0429)		195			Pentaxin.		A8K078|D3DVD9|D3DVE0|Q08AK3|Q8WW75	Silent	SNP	ENST00000255030.5	37	c.585C>T	CCDS30911.1																																																																																				0.532	CRP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085553.1	NM_000567		21	82	0	0	0	1	0	21	82					A	159683405	G	A	159683405	2	1	192	1	0	0	0	0	0	0	0	1	3895	1074	38	1		1	CRP	1	159683405	Silent	SNP	G	TCGA-H9-7775-01A-11D-2114-08	84754280	159683405	89567216	5	8934											
FAM179A	165186	broad.mit.edu	37	chr2	29237325	29237325	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gccaagaagcctgccctgccTttttctcagtctgctcccac	6	11	7	17	0	2	1	1	0	2	1	4	1	3	1	5	0	4	1	5	0	2	2			TCGA-H9-7775-01A-11D-2114-08	TCGA-H9-7775-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cff41f62-8849-4654-807b-f02b1b04ba18	4992a5df-2ae7-4480-99ab-b908b3cdf96e	g.chr2:29237325T>C	ENST00000379558.4	+	8	1293	c.942T>C	c.(940-942)ccT>ccC	p.P314P	FAM179A_ENST00000403861.2_Silent_p.P314P	NM_199280.2	NP_954974.2	Q6ZUX3	F179A_HUMAN	family with sequence similarity 179, member A	314										breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						CTGCCCTGCCTTTTTCTCAGT	0.582																																						ENST00000379558.4																			0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						c.(940-942)ccT>ccC		family with sequence similarity 179, member A							29	33	32					2																	29237325		2118	4255	6373	SO:0001819	synonymous_variant	165186						binding	g.chr2:29237325T>C	AK125239, AK125744	CCDS1769.2	2p23.2	2008-10-30			ENSG00000189350	ENSG00000189350			33715	protein-coding gene	gene with protein product						16344560	Standard	NM_199280		Approved	FLJ43249, LOC165186	uc010ezl.3	Q6ZUX3	OTTHUMG00000128432	ENST00000379558.4:c.942T>C	2.37:g.29237325T>C						FAM179A_ENST00000403861.2_Silent_p.P314P	p.P314P	NM_199280.2	NP_954974.2	Q6ZUX3	F179A_HUMAN			8	1293	+			314					Q6ZUF5	Silent	SNP	ENST00000379558.4	37	c.942T>C	CCDS1769.2																																																																																				0.582	FAM179A-003	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317848.4	NM_199280		2	11	0	0	0	1	0	2	11					C	29237325	T	C	29237325	2	2	192	1	0	0	0	0	0	0	0	1	5505	1596	56	4		4	FAM179A	2	29237325	Silent	SNP	T	TCGA-H9-7775-01A-11D-2114-08		29237325	213962048	6	8935											
CCDC141	285025	broad.mit.edu	37	chr2	179702244	179702244	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggagctgacaggctcttcCacctccatgtcagatggtgc	8	9	12	12	0	2	2	1	1	1	1	4	4	4	3	3	3	2	2	3	3	0	1			TCGA-H9-7775-01A-11D-2114-08	TCGA-H9-7775-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cff41f62-8849-4654-807b-f02b1b04ba18	4992a5df-2ae7-4480-99ab-b908b3cdf96e	g.chr2:179702244C>A	ENST00000420890.2	-	23	3819	c.3702G>T	c.(3700-3702)gtG>gtT	p.V1234V	CCDC141_ENST00000295723.5_Silent_p.V659V|CCDC141_ENST00000480419.1_5'UTR	NM_173648.3	NP_775919.3	Q6ZP82	CC141_HUMAN	coiled-coil domain containing 141	1234										NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)	78			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)			CAGGCTCTTCCACCTCCATGT	0.572																																						ENST00000420890.2																			0				NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)	78						c.(3700-3702)gtG>gtT		coiled-coil domain containing 141							63	63	63					2																	179702244		2203	4300	6503	SO:0001819	synonymous_variant	285025						protein binding	g.chr2:179702244C>A	AK096821		2q31.2	2013-01-14			ENSG00000163492	ENSG00000163492		"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	26821	protein-coding gene	gene with protein product	"coiled-coil protein associated with myosin II and DISC1"					20956536	Standard	NM_173648		Approved	FLJ39502, CAMDI	uc002une.2	Q6ZP82	OTTHUMG00000132578	ENST00000420890.2:c.3702G>T	2.37:g.179702244C>A						CCDC141_ENST00000295723.5_Silent_p.V659V|CCDC141_ENST00000480419.1_5'UTR	p.V1234V	NM_173648.3	NP_775919.3	Q6ZP82	CC141_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)		23	3819	-			659					H7C0P1|J3KNW6|Q8N8H3	Silent	SNP	ENST00000420890.2	37	c.3702G>T																																																																																					0.572	CCDC141-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_173648		3	47	1	0	1	1	1	3	47					A	179702244	C	A	179702244	2	1	192	1	0	0	0	0	0	0	0	1	2775	581	21	5		5	CCDC141	2	179702244	Silent	SNP	C	TCGA-H9-7775-01A-11D-2114-08	150464919	179702244	63497129	7	8936											
STAT4	6775	broad.mit.edu	37	chr2	191940981	191940981	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gcatgttggctgcagccaatAttctcctctcttcccttaaa	8	14	6	13	0	2	0	0	0	2	0	5	0	3	0	3	1	2	4	3	1	4	5			TCGA-H9-7775-01A-11D-2114-08	TCGA-H9-7775-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cff41f62-8849-4654-807b-f02b1b04ba18	4992a5df-2ae7-4480-99ab-b908b3cdf96e	g.chr2:191940981A>G	ENST00000392320.2	-	4	658	c.344T>C	c.(343-345)aTa>aCa	p.I115T	STAT4_ENST00000358470.4_Missense_Mutation_p.I115T	NM_003151.3	NP_003142.1	Q14765	STAT4_HUMAN	signal transducer and activator of transcription 4	115			I -> V (in dbSNP:rs3024839).		cell proliferation (GO:0008283)|cytokine-mediated signaling pathway (GO:0019221)|JAK-STAT cascade (GO:0007259)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			breast(4)|endometrium(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.0864)|all cancers(119;0.204)			TGCAGCCAATATTCTCCTCTC	0.343																																						ENST00000392320.2																			0				breast(4)|endometrium(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	42						c.(343-345)aTa>aCa		signal transducer and activator of transcription 4							108	110	109					2																	191940981		2203	4300	6503	SO:0001583	missense	6775				JAK-STAT cascade	cytoplasm|nucleus	calcium ion binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr2:191940981A>G		CCDS2310.1	2q32.2-q32.3	2013-02-14			ENSG00000138378	ENSG00000138378		"SH2 domain containing"	11365	protein-coding gene	gene with protein product		600558				8007943, 8700208	Standard	NM_003151		Approved		uc002usn.2	Q14765	OTTHUMG00000132700	ENST00000392320.2:c.344T>C	2.37:g.191940981A>G	ENSP00000376134:p.Ile115Thr					STAT4_ENST00000358470.4_Missense_Mutation_p.I115T	p.I115T	NM_003151.3	NP_003142.1	Q14765	STAT4_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.0864)|all cancers(119;0.204)		4	658	-			115		I -> V (in dbSNP:rs3024839).			Q96NZ6	Missense_Mutation	SNP	ENST00000392320.2	37	c.344T>C	CCDS2310.1	.	.	.	.	.	.	.	.	.	.	A	21.3	4.125071	0.77436	.	.	ENSG00000138378	ENST00000358470;ENST00000392320;ENST00000413064	T;T;T	0.57752	0.38;0.38;0.38	5.22	5.22	0.72569	STAT transcription factor, protein interaction (4);	0.050746	0.85682	D	0.000000	T	0.73442	0.3587	M	0.81341	2.54	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.85130	0.992;0.997;0.997	T	0.77930	-0.2403	10	0.87932	D	0	-22.5296	14.3842	0.66931	1.0:0.0:0.0:0.0	.	115;115;115	B4DSY7;B4DV04;Q14765	.;.;STAT4_HUMAN	T	115;115;88	ENSP00000351255:I115T;ENSP00000376134:I115T;ENSP00000403238:I88T	ENSP00000351255:I115T	I	-	2	0	STAT4	191649226	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.219000	0.72231	2.098000	0.63641	0.528000	0.53228	ATA		0.343	STAT4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335586.1	NM_003151		10	62	0	0	0	1	0	10	62					G	191940981	A	G	191940981	3	3	192	1	0	0	0	0	1	0	0	0	15266	449	16	4	1986	4	STAT4	2	191940981	Missense_Mutation	SNP	A	TCGA-H9-7775-01A-11D-2114-08	12238737	191940981	51258392	8	8937											
GSK3B	2932	broad.mit.edu	37	chr3	119635000	119635000	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atggatataggctaaacttcGgaacagctgatacatataca	16	10	8	7	1	0	1	0	1	0	0	1	3	0	3	0	3	5	2	0	3	8	7	rs201787969		TCGA-H9-7775-01A-11D-2114-08	TCGA-H9-7775-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cff41f62-8849-4654-807b-f02b1b04ba18	4992a5df-2ae7-4480-99ab-b908b3cdf96e	g.chr3:119635000G>A	ENST00000264235.8	-	5	1481	c.499C>T	c.(499-501)Cga>Tga	p.R167*	GSK3B_ENST00000316626.5_Nonsense_Mutation_p.R167*	NM_001146156.1|NM_002093.3	NP_001139628.1|NP_002084.2	P49841	GSK3B_HUMAN	glycogen synthase kinase 3 beta	167	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in positive regulation of apoptotic process (GO:0044337)|cell migration (GO:0016477)|cellular response to interleukin-3 (GO:0036016)|cellular response to mechanical stimulus (GO:0071260)|circadian rhythm (GO:0007623)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial to mesenchymal transition (GO:0001837)|ER overload response (GO:0006983)|establishment of cell polarity (GO:0030010)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|fat cell differentiation (GO:0045444)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glycogen metabolic process (GO:0005977)|hippocampus development (GO:0021766)|hypermethylation of CpG island (GO:0044027)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|myoblast fusion (GO:0007520)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cardiac muscle hypertrophy (GO:0010614)|negative regulation of dendrite morphogenesis (GO:0050774)|negative regulation of glycogen (starch) synthase activity (GO:2000466)|negative regulation of glycogen biosynthetic process (GO:0045719)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of neuron maturation (GO:0014043)|negative regulation of neuron projection development (GO:0010977)|negative regulation of NFAT protein import into nucleus (GO:0051534)|negative regulation of protein binding (GO:0032091)|negative regulation of protein complex assembly (GO:0031333)|negative regulation of type B pancreatic cell development (GO:2000077)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway (GO:1901030)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein binding (GO:0032092)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein complex assembly (GO:0031334)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of stem cell differentiation (GO:2000738)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein export from nucleus (GO:0006611)|protein localization to microtubule (GO:0035372)|protein phosphorylation (GO:0006468)|re-entry into mitotic cell cycle (GO:0000320)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of microtubule-based process (GO:0032886)|regulation of neuronal synaptic plasticity (GO:0048168)|response to drug (GO:0042493)|response to lithium ion (GO:0010226)|superior temporal gyrus development (GO:0071109)	beta-catenin destruction complex (GO:0030877)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|growth cone (GO:0030426)|membrane raft (GO:0045121)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|beta-catenin binding (GO:0008013)|kinase activity (GO:0016301)|NF-kappaB binding (GO:0051059)|p53 binding (GO:0002039)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|RNA polymerase II transcription factor binding (GO:0001085)|tau-protein kinase activity (GO:0050321)|ubiquitin protein ligase binding (GO:0031625)			endometrium(1)|large_intestine(8)|lung(7)|prostate(2)	18				GBM - Glioblastoma multiforme(114;0.24)	Lithium(DB01356)	GCTAAACTTCGGAACAGCTGA	0.348																																						ENST00000264235.8																			0				endometrium(1)|large_intestine(8)|lung(7)|prostate(2)	18						c.(499-501)Cga>Tga		glycogen synthase kinase 3 beta	Lithium(DB01356)						81	84	83					3																	119635000		2203	4300	6503	SO:0001587	stop_gained	2932				axon guidance|epithelial to mesenchymal transition|ER overload response|glycogen metabolic process|hippocampus development|negative regulation of apoptosis|negative regulation of protein binding|negative regulation of protein complex assembly|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|positive regulation of cell-matrix adhesion|positive regulation of protein complex assembly|positive regulation of protein export from nucleus|positive regulation of Rac GTPase activity|regulation of microtubule-based process|superior temporal gyrus development	Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|nucleus|plasma membrane	ATP binding|beta-catenin binding|NF-kappaB binding|p53 binding|protein kinase A catalytic subunit binding|protein serine/threonine kinase activity|RNA polymerase II transcription factor binding|tau-protein kinase activity|ubiquitin protein ligase binding	g.chr3:119635000G>A	BC012760	CCDS2996.1, CCDS54628.1	3q13.3	2008-02-15			ENSG00000082701	ENSG00000082701			4617	protein-coding gene	gene with protein product		605004				10486203	Standard	NM_002093		Approved		uc003edm.3	P49841	OTTHUMG00000133765	ENST00000264235.8:c.499C>T	3.37:g.119635000G>A	ENSP00000264235:p.Arg167*					GSK3B_ENST00000316626.5_Nonsense_Mutation_p.R167*	p.R167*	NM_001146156.1|NM_002093.3	NP_001139628.1|NP_002084.2	P49841	GSK3B_HUMAN		GBM - Glioblastoma multiforme(114;0.24)	5	1481	-			167			Protein kinase.		D3DN89|Q9BWH3|Q9UL47	Nonsense_Mutation	SNP	ENST00000264235.8	37	c.499C>T	CCDS54628.1	.	.	.	.	.	.	.	.	.	.	G	37	6.481761	0.97603	.	.	ENSG00000082701	ENST00000264235;ENST00000316626	.	.	.	4.89	2.99	0.34606	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-9.0915	13.4517	0.61174	0.0:0.0:0.6701:0.3299	.	.	.	.	X	167	.	ENSP00000264235:R167X	R	-	1	2	GSK3B	121117690	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.621000	0.54210	0.684000	0.31448	0.563000	0.77884	CGA		0.348	GSK3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258240.2			20	45	0	0	0	1	0	20	45					A	119635000	G	A	119635000	4	1	192	1	0	0	0	0	0	1	0	0	6824	1124	39	2	834	2	GSK3B	3	119635000	Nonsense_Mutation	SNP	G	TCGA-H9-7775-01A-11D-2114-08		119635000	78387430	9	8938											
WWTR1	25937	broad.mit.edu	37	chr3	149260194	149260196	+	In_Frame_Del	DEL	CTG	CTG	-																															attctctgaagccgcagtttCtgctgctgctgctgctgagt																										TCGA-H9-7775-01A-11D-2114-08	TCGA-H9-7775-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cff41f62-8849-4654-807b-f02b1b04ba18	4992a5df-2ae7-4480-99ab-b908b3cdf96e	g.chr3:149260194_149260196delCTG	ENST00000465804.1	-	5	953_955	c.697_699delCAG	c.(697-699)cagdel	p.Q233del	WWTR1_ENST00000360632.3_In_Frame_Del_p.Q233del|WWTR1_ENST00000467467.1_In_Frame_Del_p.Q233del	NM_001168278.1	NP_001161750.1	Q9GZV5	WWTR1_HUMAN	WW domain containing transcription regulator 1	233	Gln-rich.				cilium morphogenesis (GO:0060271)|gene expression (GO:0010467)|glomerulus development (GO:0032835)|hippo signaling (GO:0035329)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catenin import into nucleus (GO:0035414)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|osteoblast differentiation (GO:0001649)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)|regulation of SMAD protein import into nucleus (GO:0060390)|regulation of transcription, DNA-templated (GO:0006355)|stem cell division (GO:0017145)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			breast(5)|cervix(1)|endometrium(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)	23			LUSC - Lung squamous cell carcinoma(72;0.0378)|Lung(72;0.048)			GCCGCAGTTTCTGCTGCTGCTGC	0.581			T	CAMTA1	epitheliod hemangioendothelioma																																	ENST00000465804.1				Dom	yes		3	3q23-q24	607392	T	WW domain containing transcription regulator 1			M	CAMTA1		epitheliod hemangioendothelioma		0				breast(5)|cervix(1)|endometrium(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)	23						c.(697-699)del		WW domain containing transcription regulator 1																																				SO:0001651	inframe_deletion	25937				hippo signaling cascade|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of protein kinase activity|negative regulation of protein phosphorylation|positive regulation of cell proliferation|positive regulation of epithelial to mesenchymal transition|regulation of SMAD protein import into nucleus|stem cell division|transcription, DNA-dependent	cytoplasm	transcription coactivator activity	g.chr3:149260194_149260196delCTG	AK022036	CCDS3144.1	3q23-q24	2004-12-03			ENSG00000018408	ENSG00000018408			24042	protein-coding gene	gene with protein product		607392				11118213, 15096513	Standard	NM_015472		Approved	TAZ, DKFZp586I1419	uc021xfm.1	Q9GZV5	OTTHUMG00000159614	ENST00000465804.1:c.697_699delCAG	3.37:g.149260203_149260205delCTG	ENSP00000419465:p.Gln233del					WWTR1_ENST00000467467.1_In_Frame_Del_p.Q233del|WWTR1_ENST00000360632.3_In_Frame_Del_p.Q233del	p.Q233del	NM_001168278.1	NP_001161750.1	Q9GZV5	WWTR1_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0378)|Lung(72;0.048)		5	953_955	-			233			Gln-rich.		D3DNH7|Q8N3P2|Q9Y3W6	In_Frame_Del	DEL	ENST00000465804.1	37	c.697_699delCAG	CCDS3144.1																																																																																				0.581	WWTR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356498.1	NM_015472		7	65						7	65	---	---	---	---	-	149260196	CTG	-	149260194	7	5	192	1	0	1	0	1	0	0	0	0	17414	912	32	0	519	0	WWTR1	3	149260194	In_Frame_Del	DEL	CTG	TCGA-H9-7775-01A-11D-2114-08	29625194	149260194	48762236	10	8939											
FAM53A	152877	broad.mit.edu	37	chr4	1643058	1643058	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctccaggtccagctcccagcGggcccgggggaagacgccct	6	4	14	17	3	0	1	0	0	0	1	3	2	3	2	5	4	2	1	5	4	1	0	rs565614356		TCGA-H9-7775-01A-11D-2114-08	TCGA-H9-7775-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cff41f62-8849-4654-807b-f02b1b04ba18	4992a5df-2ae7-4480-99ab-b908b3cdf96e	g.chr4:1643058G>A	ENST00000308132.6	-	5	1351	c.1159C>T	c.(1159-1161)Cgc>Tgc	p.R387C	FAM53A_ENST00000489363.1_3'UTR|FAM53A_ENST00000472884.2_Missense_Mutation_p.R387C|FAM53A_ENST00000461064.1_Missense_Mutation_p.R387C	NM_001174070.1	NP_001167541.1	Q6NSI3	FA53A_HUMAN	family with sequence similarity 53, member A	387						nucleus (GO:0005634)				breast(2)|central_nervous_system(2)|large_intestine(1)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10		all_epithelial(65;0.206)|Breast(71;0.212)	OV - Ovarian serous cystadenocarcinoma(23;0.0145)			AGCTCCCAGCGGGCCCGGGGG	0.701													g|||	1	0.000199681	0	0	5008	,	,		14512	0		0	False		,,,				2504	0.001					ENST00000308132.6																			0				breast(2)|central_nervous_system(2)|large_intestine(1)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10						c.(1159-1161)Cgc>Tgc		family with sequence similarity 53, member A							25	30	28					4																	1643058		2203	4298	6501	SO:0001583	missense	152877					nucleus		g.chr4:1643058G>A	BC070112	CCDS33939.1, CCDS75091.1	4p16.3	2005-08-09			ENSG00000174137	ENSG00000174137			31860	protein-coding gene	gene with protein product							Standard	NM_001013622		Approved	DNTNP	uc021xkl.1	Q6NSI3	OTTHUMG00000159855	ENST00000308132.6:c.1159C>T	4.37:g.1643058G>A	ENSP00000310057:p.Arg387Cys					FAM53A_ENST00000461064.1_Missense_Mutation_p.R387C|FAM53A_ENST00000472884.2_Missense_Mutation_p.R387C|FAM53A_ENST00000489363.1_3'UTR	p.R387C	NM_001174070.1	NP_001167541.1	Q6NSI3	FA53A_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.0145)		5	1351	-		all_epithelial(65;0.206)|Breast(71;0.212)	387					Q6ZUL5	Missense_Mutation	SNP	ENST00000308132.6	37	c.1159C>T	CCDS33939.1	.	.	.	.	.	.	.	.	.	.	g	11.09	1.537839	0.27475	.	.	ENSG00000174137	ENST00000308132;ENST00000461064;ENST00000472884	T;T;T	0.42131	0.98;0.98;0.98	3.75	-3.62	0.04543	.	0.569006	0.15025	N	0.284762	T	0.18383	0.0441	N	0.11560	0.145	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.08006	-1.0743	10	0.52906	T	0.07	-10.3379	5.9003	0.18962	0.5632:0.291:0.1458:0.0	.	387	Q6NSI3	FA53A_HUMAN	C	387	ENSP00000310057:R387C;ENSP00000418243:R387C;ENSP00000426260:R387C	ENSP00000310057:R387C	R	-	1	0	FAM53A	1612874	0.992000	0.36948	0.000000	0.03702	0.003000	0.03518	1.380000	0.34351	-0.791000	0.04486	-0.352000	0.07741	CGC		0.701	FAM53A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359224.1	NM_001013622		4	67	0	0	0	1	0	4	67					A	1643058	G	A	1643058	3	1	192	1	0	0	0	0	1	0	0	0	5579	1116	39	2	41	2	FAM53A	4	1643058	Missense_Mutation	SNP	G	TCGA-H9-7775-01A-11D-2114-08		1643058	189511218	11	8940											
MRPL1	65008	broad.mit.edu	37	chr4	78815325	78815325	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gaaattgttgcagacttttaCgtagctgttccagaaataat	13	14	8	6	1	0	2	0	0	0	2	1	3	1	2	1	0	3	5	1	0	5	7	rs144344573		TCGA-H9-7775-01A-11D-2114-08	TCGA-H9-7775-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cff41f62-8849-4654-807b-f02b1b04ba18	4992a5df-2ae7-4480-99ab-b908b3cdf96e	g.chr4:78815325C>T	ENST00000315567.8	+	6	920	c.591C>T	c.(589-591)taC>taT	p.Y197Y	MRPL1_ENST00000506674.1_3'UTR	NM_020236.3	NP_064621.3	Q9BYD6	RM01_HUMAN	mitochondrial ribosomal protein L1	197					translation (GO:0006412)	large ribosomal subunit (GO:0015934)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)	17						CAGACTTTTACGTAGCTGTTC	0.308													C|||	1	0.000199681	8e-04	0	5008	,	,		16935	0		0	False		,,,				2504	0					ENST00000315567.8																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)	17						c.(589-591)taC>taT		mitochondrial ribosomal protein L1		C		13,4393	20.2+/-43.8	0,13,2190	94	109	104		591	4.3	1	4	dbSNP_134	104	0,8598		0,0,4299	no	coding-synonymous	MRPL1	NM_020236.3		0,13,6489	TT,TC,CC		0.0,0.2951,0.1		197/326	78815325	13,12991	2203	4299	6502	SO:0001819	synonymous_variant	65008						RNA binding	g.chr4:78815325C>T	AB049474	CCDS3583.2	4q21.1	2012-09-13			ENSG00000169288	ENSG00000169288		"Mitochondrial ribosomal proteins / large subunits"	14275	protein-coding gene	gene with protein product		611821					Standard	NM_020236		Approved	BM022	uc003hku.2	Q9BYD6	OTTHUMG00000130200	ENST00000315567.8:c.591C>T	4.37:g.78815325C>T						MRPL1_ENST00000506674.1_3'UTR	p.Y197Y	NM_020236.3	NP_064621.3	Q9BYD6	RM01_HUMAN			6	920	+			197					A6NG03|Q4W5B8|Q6IAG4|Q96BW3|Q9H793|Q9NRL5	Silent	SNP	ENST00000315567.8	37	c.591C>T	CCDS3583.2	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	1.919	-0.448765	0.04572	0.002951	0.0	ENSG00000169288	ENST00000502384	.	.	.	5.49	4.3	0.51218	.	.	.	.	.	T	0.58694	0.2140	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.55302	-0.8162	4	.	.	.	-13.6677	8.3783	0.32455	0.0:0.0896:0.0:0.9104	.	.	.	.	C	151	.	.	R	+	1	0	MRPL1	79034349	0.999000	0.42202	0.996000	0.52242	0.392000	0.30506	0.832000	0.27490	1.033000	0.39918	-0.247000	0.11927	CGT		0.308	MRPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252518.3	NM_020236		12	68	0	0	0	1	0	12	68					T	78815325	C	T	78815325	2	4	192	1	0	0	0	0	0	0	0	1	9774	547	19	1		1	MRPL1	4	78815325	Silent	SNP	C	TCGA-H9-7775-01A-11D-2114-08	77172267	78815325	112338951	12	8941											
GRM1	2911	broad.mit.edu	37	chr6	146480672	146480672	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tctgtgaaggcatgacagtgCgaggactcctgagcgccatg	9	8	14	10	2	1	3	0	3	1	0	2	5	2	4	2	2	2	1	2	2	1	0			TCGA-H9-7775-01A-11D-2114-08	TCGA-H9-7775-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cff41f62-8849-4654-807b-f02b1b04ba18	4992a5df-2ae7-4480-99ab-b908b3cdf96e	g.chr6:146480672C>T	ENST00000282753.1	+	2	1124	c.889C>T	c.(889-891)Cga>Tga	p.R297*	GRM1_ENST00000355289.4_Nonsense_Mutation_p.R297*|GRM1_ENST00000392299.2_Nonsense_Mutation_p.R297*|GRM1_ENST00000361719.2_Nonsense_Mutation_p.R297*|GRM1_ENST00000507907.1_Nonsense_Mutation_p.R297*|GRM1_ENST00000492807.2_Nonsense_Mutation_p.R297*			Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	297					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|cell death (GO:0008219)|cellular response to electrical stimulus (GO:0071257)|dimeric G-protein coupled receptor signaling pathway (GO:0038042)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|G-protein coupled receptor signaling pathway (GO:0007186)|locomotory behavior (GO:0007626)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of pain (GO:0019233)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|G-protein coupled receptor dimeric complex (GO:0038037)|G-protein coupled receptor homodimeric complex (GO:0038038)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)	p.R297*(3)		NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)		CATGACAGTGCGAGGACTCCT	0.567																																						ENST00000392299.2																			3	Substitution - Nonsense(3)	p.R297*(3)	prostate(2)|breast(1)	NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126						c.(889-891)Cga>Tga		glutamate receptor, metabotropic 1	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)						85	80	82					6																	146480672		2203	4300	6503	SO:0001587	stop_gained	2911				synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	g.chr6:146480672C>T	U31215	CCDS5209.1, CCDS47497.1, CCDS64548.1	6q24	2014-06-12			ENSG00000152822	ENSG00000152822		"GPCR / Class C : Glutamate receptors, metabotropic", "Glutamate receptors"	4593	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 85"	604473				9076744, 9376535	Standard	NM_001278064		Approved	GPRC1A, mGlu1, MGLUR1, PPP1R85	uc010khw.2	Q13255	OTTHUMG00000015752	ENST00000282753.1:c.889C>T	6.37:g.146480672C>T	ENSP00000282753:p.Arg297*					GRM1_ENST00000355289.4_Nonsense_Mutation_p.R297*|GRM1_ENST00000492807.2_Nonsense_Mutation_p.R297*|GRM1_ENST00000507907.1_Nonsense_Mutation_p.R297*|GRM1_ENST00000361719.2_Nonsense_Mutation_p.R297*|GRM1_ENST00000282753.1_Nonsense_Mutation_p.R297*	p.R297*			Q13255	GRM1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	3	1359	+		Ovarian(120;0.0387)	297					B9EG79|F8W805|Q13256|Q14757|Q14758|Q5VTF7|Q5VTF8|Q9NU10|Q9UGS9|Q9UGT0	Nonsense_Mutation	SNP	ENST00000282753.1	37	c.889C>T	CCDS5209.1	.	.	.	.	.	.	.	.	.	.	C	39	7.608075	0.98387	.	.	ENSG00000152822	ENST00000361719;ENST00000392299;ENST00000492807;ENST00000282753;ENST00000355289;ENST00000507907	.	.	.	5.32	3.34	0.38264	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.8156	0.52209	0.5982:0.4017:0.0:0.0	.	.	.	.	X	297	.	ENSP00000282753:R297X	R	+	1	2	GRM1	146522365	1.000000	0.71417	0.791000	0.31998	0.873000	0.50193	3.908000	0.56355	1.243000	0.43853	0.655000	0.94253	CGA		0.567	GRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042574.1	NM_000838		12	27	0	0	0	1	0	12	27					T	146480672	C	T	146480672	4	4	192	1	0	0	0	0	0	1	0	0	6796	760	27	1	895	1	GRM1	6	146480672	Nonsense_Mutation	SNP	C	TCGA-H9-7775-01A-11D-2114-08		146480672	24634395	13	8942											
CCR6	1235	broad.mit.edu	37	chr6	167550766	167550766	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctcaggcttctcctgtgccGggaggtactcagaaaacatt	9	10	10	12	1	3	1	2	0	1	1	4	2	3	2	3	3	3	2	3	3	3	3			TCGA-H9-7775-01A-11D-2114-08	TCGA-H9-7775-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cff41f62-8849-4654-807b-f02b1b04ba18	4992a5df-2ae7-4480-99ab-b908b3cdf96e	g.chr6:167550766G>A	ENST00000341935.5	+	3	1600	c.1048G>A	c.(1048-1050)Ggg>Agg	p.G350R	RP11-517H2.6_ENST00000609590.1_RNA|CCR6_ENST00000400926.2_Missense_Mutation_p.G350R|CCR6_ENST00000349984.4_Missense_Mutation_p.G350R	NM_031409.3	NP_113597.2	P51684	CCR6_HUMAN	chemokine (C-C motif) receptor 6	350					cellular component movement (GO:0006928)|cellular defense response (GO:0006968)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|dendritic cell chemotaxis (GO:0002407)|humoral immune response (GO:0006959)|immune response (GO:0006955)|innate immune response (GO:0045087)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	C-C chemokine receptor activity (GO:0016493)|chemokine receptor activity (GO:0004950)|receptor activity (GO:0004872)			endometrium(3)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)	14		Breast(66;1.53e-05)|Ovarian(120;0.0606)		OV - Ovarian serous cystadenocarcinoma(33;8.21e-20)|BRCA - Breast invasive adenocarcinoma(81;4.55e-06)|GBM - Glioblastoma multiforme(31;0.00507)		CTCCTGTGCCGGGAGGTACTC	0.483																																						ENST00000341935.5																			0				endometrium(3)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)	14						c.(1048-1050)Ggg>Agg		chemokine (C-C motif) receptor 6							66	65	65					6																	167550766		2203	4300	6503	SO:0001583	missense	1235				cellular defense response|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|humoral immune response	integral to plasma membrane	C-C chemokine receptor activity	g.chr6:167550766G>A	U68030	CCDS5298.1	6q27	2012-08-08			ENSG00000112486	ENSG00000112486		"GPCR / Class A : Chemokine receptors : C-C motif", "CD molecules"	1607	protein-coding gene	gene with protein product		601835		STRL22		8886020	Standard	NM_031409		Approved	CKR-L3, GPR-CY4, CMKBR6, GPR29, DRY-6, DCR2, BN-1, CD196	uc010kkm.3	P51684	OTTHUMG00000016015	ENST00000341935.5:c.1048G>A	6.37:g.167550766G>A	ENSP00000343952:p.Gly350Arg					CCR6_ENST00000349984.4_Missense_Mutation_p.G350R|CCR6_ENST00000400926.2_Missense_Mutation_p.G350R	p.G350R	NM_031409.3	NP_113597.2	P51684	CCR6_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;8.21e-20)|BRCA - Breast invasive adenocarcinoma(81;4.55e-06)|GBM - Glioblastoma multiforme(31;0.00507)	3	1600	+		Breast(66;1.53e-05)|Ovarian(120;0.0606)	350					E1P5C6|P78553|Q92846	Missense_Mutation	SNP	ENST00000341935.5	37	c.1048G>A	CCDS5298.1	.	.	.	.	.	.	.	.	.	.	G	0.021	-1.429858	0.01117	.	.	ENSG00000112486	ENST00000400926;ENST00000341935;ENST00000349984	T;T;T	0.66280	-0.2;-0.2;-0.2	4.79	-9.57	0.00562	.	2.642990	0.01891	N	0.038548	T	0.22704	0.0548	N	0.24115	0.695	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.09164	-1.0687	10	0.12766	T	0.61	.	17.963	0.89091	0.1649:0.7703:0.0648:0.0	.	350	P51684	CCR6_HUMAN	R	350	ENSP00000383715:G350R;ENSP00000343952:G350R;ENSP00000339393:G350R	ENSP00000343952:G350R	G	+	1	0	CCR6	167470756	0.001000	0.12720	0.004000	0.12327	0.001000	0.01503	0.084000	0.14891	-1.953000	0.01026	-2.279000	0.00272	GGG		0.483	CCR6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043118.1			10	36	0	0	0	1	0	10	36					A	167550766	G	A	167550766	3	1	192	1	0	0	0	0	1	0	0	0	2945	1116	39	2	1054	2	CCR6	6	167550766	Missense_Mutation	SNP	G	TCGA-H9-7775-01A-11D-2114-08	21070094	167550766	3564301	14	8943											
SDK1	221935	broad.mit.edu	37	chr7	4167093	4167093	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tgacatggacatccgtgccgGaacaggaccagaatgggctc	11	6	13	11	2	0	2	0	1	0	1	2	5	1	5	3	4	2	1	3	4	2	0			TCGA-H9-7775-01A-11D-2114-08	TCGA-H9-7775-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cff41f62-8849-4654-807b-f02b1b04ba18	4992a5df-2ae7-4480-99ab-b908b3cdf96e	g.chr7:4167093G>A	ENST00000404826.2	+	26	4043	c.3904G>A	c.(3904-3906)Gaa>Aaa	p.E1302K	SDK1_ENST00000389531.3_Missense_Mutation_p.E1302K	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	1302	Fibronectin type-III 7. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		ATCCGTGCCGGAACAGGACCA	0.537																																						ENST00000404826.2																			0				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153						c.(3904-3906)Gaa>Aaa		sidekick cell adhesion molecule 1							136	123	127					7																	4167093		2203	4300	6503	SO:0001583	missense	221935				cell adhesion	integral to membrane		g.chr7:4167093G>A	AK074077	CCDS34590.1	7p22.3	2013-02-11	2011-12-09		ENSG00000146555	ENSG00000146555		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	19307	protein-coding gene	gene with protein product		607216	"sidekick homolog 1 (chicken)", "sidekick homolog 1, cell adhesion molecule (chicken)"			12230981, 17307840, 15213259	Standard	NM_001079653		Approved	FLJ31425	uc003smx.3	Q7Z5N4	OTTHUMG00000151733	ENST00000404826.2:c.3904G>A	7.37:g.4167093G>A	ENSP00000385899:p.Glu1302Lys					SDK1_ENST00000389531.3_Missense_Mutation_p.E1302K	p.E1302K	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)	26	4043	+		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)	1302			Fibronectin type-III 7.		Q8TEN9|Q8TEP5|Q96N44	Missense_Mutation	SNP	ENST00000404826.2	37	c.3904G>A	CCDS34590.1	.	.	.	.	.	.	.	.	.	.	G	13.65	2.300136	0.40694	.	.	ENSG00000146555	ENST00000404826;ENST00000389531	T;T	0.61392	0.11;0.13	5.88	5.0	0.66597	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000002	T	0.57227	0.2039	N	0.24115	0.695	0.51482	D	0.999921	D;P	0.54397	0.966;0.941	P;P	0.59115	0.852;0.577	T	0.54043	-0.8352	10	0.25751	T	0.34	.	13.0846	0.59133	0.0737:0.0:0.9263:0.0	.	1302;1302	F8W6X9;Q7Z5N4	.;SDK1_HUMAN	K	1302	ENSP00000385899:E1302K;ENSP00000374182:E1302K	ENSP00000374182:E1302K	E	+	1	0	SDK1	4133619	1.000000	0.71417	0.471000	0.27229	0.272000	0.26649	5.620000	0.67736	1.489000	0.48450	0.650000	0.86243	GAA		0.537	SDK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323702.1	NM_152744		9	120	0	0	0	1	0	9	120					A	4167093	G	A	4167093	3	1	192	1	0	0	0	0	1	0	0	0	13968	1175	41	3	4006	3	SDK1	7	4167093	Missense_Mutation	SNP	G	TCGA-H9-7775-01A-11D-2114-08		4167093	154971570	15	8944											
RNF216	54476	broad.mit.edu	37	chr7	5780784	5780784	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggatgggcaggctgaggagaAgaggggcctgaaatcccacc	11	4	17	9	0	0	4	0	2	0	2	1	6	1	5	3	6	0	2	3	6	2	0			TCGA-H9-7775-01A-11D-2114-08	TCGA-H9-7775-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cff41f62-8849-4654-807b-f02b1b04ba18	4992a5df-2ae7-4480-99ab-b908b3cdf96e	g.chr7:5780784A>C	ENST00000425013.2	-	4	917	c.693T>G	c.(691-693)tcT>tcG	p.S231S	RNF216_ENST00000389902.3_Silent_p.S288S	NM_207111.3|NM_207116.2	NP_996994.1|NP_996999.1	Q9NWF9	RN216_HUMAN	ring finger protein 216	231					apoptotic process (GO:0006915)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K48-linked ubiquitination (GO:0070936)|regulation of defense response to virus by host (GO:0050691)|regulation of interferon-beta production (GO:0032648)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)		FBXL18/RNF216(2)	breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)|skin(1)|urinary_tract(4)	33		Ovarian(82;0.07)		UCEC - Uterine corpus endometrioid carcinoma (126;0.135)|OV - Ovarian serous cystadenocarcinoma(56;2.69e-13)		GCTGAGGAGAAGAGGGGCCTG	0.542																																						ENST00000425013.2																		FBXL18/RNF216(2)	0				breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)|skin(1)|urinary_tract(4)	33						c.(691-693)tcT>tcG		ring finger protein 216							72	74	73					7																	5780784		2203	4300	6503	SO:0001819	synonymous_variant	54476				apoptosis|interspecies interaction between organisms|proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked ubiquitination|regulation of defense response to virus by host|regulation of interferon-beta production	cytoplasm|nucleus	ligase activity|protein binding|zinc ion binding	g.chr7:5780784A>C	AY062174	CCDS34594.1, CCDS34595.1	7p22.1	2014-02-12	2007-08-20		ENSG00000011275	ENSG00000011275		"RING-type (C3HC4) zinc fingers"	21698	protein-coding gene	gene with protein product		609948					Standard	NM_207111		Approved	TRIAD3, UBCE7IP1, ZIN	uc003sox.2	Q9NWF9	OTTHUMG00000155500	ENST00000425013.2:c.693T>G	7.37:g.5780784A>C						RNF216_ENST00000389902.3_Silent_p.S288S	p.S231S	NM_207111.3|NM_207116.2	NP_996994.1|NP_996999.1	Q9NWF9	RN216_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.135)|OV - Ovarian serous cystadenocarcinoma(56;2.69e-13)	4	917	-		Ovarian(82;0.07)	231					Q6Y691|Q75ML7|Q7Z2H7|Q7Z7C1|Q8NHW7|Q9NYT1	Silent	SNP	ENST00000425013.2	37	c.693T>G	CCDS34595.1																																																																																				0.542	RNF216-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000340374.1	NM_207111		18	77	0	0	0	1	0	18	77					C	5780784	A	C	5780784	2	2	192	1	0	0	0	0	0	0	0	1	13480	59	3	5		5	RNF216	7	5780784	Silent	SNP	A	TCGA-H9-7775-01A-11D-2114-08	1613691	5780784	153357879	16	8945											
DMTF1	9988	broad.mit.edu	37	chr7	86795841	86795851	+	Frame_Shift_Del	DEL	ATAAAAGGCTT	ATAAAAGGCTT	-																															agatagtattgaacctccacAtaaaaggctttgtttgtcct																										TCGA-H9-7775-01A-11D-2114-08	TCGA-H9-7775-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cff41f62-8849-4654-807b-f02b1b04ba18	4992a5df-2ae7-4480-99ab-b908b3cdf96e	g.chr7:86795841_86795851delATAAAAGGCTT	ENST00000394703.5	+	6	715_725	c.152_162delATAAAAGGCTT	c.(151-162)cataaaaggcttfs	p.HKRL51fs	DMTF1_ENST00000414194.2_5'UTR|DMTF1_ENST00000411766.2_Intron|DMTF1_ENST00000331242.7_Frame_Shift_Del_p.HKRL51fs|DMTF1_ENST00000394702.3_Frame_Shift_Del_p.HKRL51fs|DMTF1_ENST00000432937.2_5'UTR|DMTF1_ENST00000413276.2_Frame_Shift_Del_p.HKRL51fs	NM_021145.3	NP_066968.3	Q9Y222	DMTF1_HUMAN	cyclin D binding myb-like transcription factor 1	51	Interaction with CCND2. {ECO:0000250}.				cell cycle (GO:0007049)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)	16	Esophageal squamous(14;0.0058)					GAACCTCCACATAAAAGGCTTTGTTTGTCCT	0.365																																						ENST00000394703.5																			0				central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)	16						c.(151-162)cfs		cyclin D binding myb-like transcription factor 1																																				SO:0001589	frameshift_variant	9988				cell cycle	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:86795841_86795851delATAAAAGGCTT	AF084530	CCDS5601.1, CCDS47633.1	7q21	2014-06-25			ENSG00000135164	ENSG00000135164			14603	protein-coding gene	gene with protein product	"cyclin D-binding Myb-like protein"	608491				10095122, 24958102	Standard	NR_024549		Approved	DMP1, DMTF, hDMP1, MRUL	uc003uih.3	Q9Y222	OTTHUMG00000154135	ENST00000394703.5:c.152_162delATAAAAGGCTT	7.37:g.86795841_86795851delATAAAAGGCTT	ENSP00000378193:p.His51fs					DMTF1_ENST00000432937.2_5'UTR|DMTF1_ENST00000414194.2_5'UTR|DMTF1_ENST00000413276.2_Frame_Shift_Del_p.HKRL51fs|DMTF1_ENST00000394702.3_Frame_Shift_Del_p.HKRL51fs|DMTF1_ENST00000411766.2_Intron|DMTF1_ENST00000331242.7_Frame_Shift_Del_p.HKRL51fs	p.HKRL51fs	NM_021145.3	NP_066968.3	Q9Y222	DMTF1_HUMAN			6	715_725	+	Esophageal squamous(14;0.0058)		51			Interaction with CCND2 (By similarity).		B2RBE1|B4DJS5|Q05C48|Q59G79|Q6IS13|Q969T2|Q9H2Z2|Q9H2Z3	Frame_Shift_Del	DEL	ENST00000394703.5	37	c.152_162delATAAAAGGCTT	CCDS5601.1																																																																																				0.365	DMTF1-002	KNOWN	alternative_5_UTR|non_canonical_TEC|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334025.5	NM_021145		8	42						8	42	---	---	---	---	-	86795851	ATAAAAGGCTT	-	86795841	7	5	192	1	0	1	0	1	0	0	0	0	4592	217	8	0	158	0	DMTF1	7	86795841	Frame_Shift_Del	DEL	ATAAAAGGCTT	TCGA-H9-7775-01A-11D-2114-08	81015057	86795841	72342822	17	8946											
ARHGEF5	7984	broad.mit.edu	37	chr7	144062353	144062353	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtccagggggaggagcaggaGcactcggggaggacatatga	11	4	19	7	1	0	1	0	1	0	0	2	6	1	6	1	7	2	2	1	7	1	1			TCGA-H9-7775-01A-11D-2114-08	TCGA-H9-7775-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cff41f62-8849-4654-807b-f02b1b04ba18	4992a5df-2ae7-4480-99ab-b908b3cdf96e	g.chr7:144062353G>A	ENST00000056217.5	+	2	2765	c.2591G>A	c.(2590-2592)aGc>aAc	p.S864N	ARHGEF5_ENST00000471847.2_5'Flank	NM_005435.3	NP_005426.2	Q12774	ARHG5_HUMAN	Rho guanine nucleotide exchange factor (GEF) 5	864					actin cytoskeleton organization (GO:0030036)|intracellular signal transduction (GO:0035556)|myeloid dendritic cell chemotaxis (GO:0002408)|positive regulation of podosome assembly (GO:0071803)|regulation of Rho GTPase activity (GO:0032319)		GTP binding (GO:0005525)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|endometrium(6)|kidney(8)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	Melanoma(164;0.14)					AGGAGCAGGAGCACTCGGGGA	0.602																																						ENST00000056217.5																			0				breast(1)|endometrium(6)|kidney(8)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						c.(2590-2592)aGc>aAc		Rho guanine nucleotide exchange factor (GEF) 5							77	88	84					7																	144062353		2202	4298	6500	SO:0001583	missense	7984				intracellular signal transduction|regulation of Rho protein signal transduction	intracellular	GTP binding|protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr7:144062353G>A	U02082	CCDS34771.1	7q35	2012-09-20			ENSG00000050327	ENSG00000050327		"Rho guanine nucleotide exchange factors"	13209	protein-coding gene	gene with protein product	"transforming immortalized mammary oncogene", "guanine nucleotide regulatory protein TIM"	600888				8134109, 7656213	Standard	NM_005435		Approved	TIM, TIM1, GEF5, P60	uc003wel.3	Q12774	OTTHUMG00000158004	ENST00000056217.5:c.2591G>A	7.37:g.144062353G>A	ENSP00000056217:p.Ser864Asn						p.S864N	NM_005435.3	NP_005426.2	Q12774	ARHG5_HUMAN			2	2765	+	Melanoma(164;0.14)		864					A6NNJ2|Q6ZML7	Missense_Mutation	SNP	ENST00000056217.5	37	c.2591G>A	CCDS34771.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.22|11.22	1.574109|1.574109	0.28092|0.28092	.|.	.|.	ENSG00000050327|ENSG00000050327	ENST00000474817|ENST00000056217	.|D	.|0.83075	.|-1.68	4.27|4.27	3.38|3.38	0.38709|0.38709	.|.	.|0.178441	.|0.33346	.|N	.|0.005010	T|T	0.79452|0.79452	0.4448|0.4448	L|L	0.36672|0.36672	1.1|1.1	0.54753|0.54753	D|D	0.999984|0.999984	.|D	.|0.54047	.|0.964	.|P	.|0.49561	.|0.615	T|T	0.79883|0.79883	-0.1615|-0.1615	5|10	.|0.87932	.|D	.|0	-15.6549|-15.6549	9.8457|9.8457	0.41026|0.41026	0.0:0.2343:0.7657:0.0|0.0:0.2343:0.7657:0.0	.|.	.|864	.|Q12774	.|ARHG5_HUMAN	T|N	118|864	.|ENSP00000056217:S864N	.|ENSP00000056217:S864N	A|S	+|+	1|2	0|0	ARHGEF5|ARHGEF5	143693286|143693286	0.614000|0.614000	0.27017|0.27017	0.663000|0.663000	0.29738|0.29738	0.012000|0.012000	0.07955|0.07955	2.245000|2.245000	0.43133|0.43133	0.999000|0.999000	0.39023|0.39023	-0.321000|-0.321000	0.08615|0.08615	GCA|AGC		0.602	ARHGEF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349981.1	NM_005435		4	123	0	0	0	1	0	4	123					A	144062353	G	A	144062353	3	1	192	1	0	0	0	0	1	0	0	0	909	971	34	3	2593	3	ARHGEF5	7	144062353	Missense_Mutation	SNP	G	TCGA-H9-7775-01A-11D-2114-08	57266512	144062353	15076310	18	8947											
CSMD1	64478	broad.mit.edu	37	chr8	2820915	2820915	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggcggctgaggacacagcaCggctatttccaaagaacaaa	14	5	11	11	3	0	2	0	1	0	1	1	3	1	3	1	4	2	3	1	4	4	2			TCGA-H9-7775-01A-11D-2114-08	TCGA-H9-7775-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cff41f62-8849-4654-807b-f02b1b04ba18	4992a5df-2ae7-4480-99ab-b908b3cdf96e	g.chr8:2820915C>T	ENST00000520002.1	-	61	9841	c.9286G>A	c.(9286-9288)Gtg>Atg	p.V3096M	CSMD1_ENST00000542608.1_Missense_Mutation_p.V2918M|CSMD1_ENST00000602557.1_Missense_Mutation_p.V3096M|CSMD1_ENST00000602723.1_Missense_Mutation_p.V2919M|CSMD1_ENST00000400186.3_Missense_Mutation_p.V2919M|CSMD1_ENST00000537824.1_Missense_Mutation_p.V3095M			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	3096	Sushi 25. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		GGACACAGCACGGCTATTTCC	0.498																																						ENST00000602557.1																			0				breast(20)|large_intestine(5)	25						c.(9286-9288)Gtg>Atg		CUB and Sushi multiple domains 1							121	126	124					8																	2820915		1909	4134	6043	SO:0001583	missense	64478					integral to membrane		g.chr8:2820915C>T			8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	14026	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 24"	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.9286G>A	8.37:g.2820915C>T	ENSP00000430733:p.Val3096Met					CSMD1_ENST00000542608.1_Missense_Mutation_p.V2918M|CSMD1_ENST00000537824.1_Missense_Mutation_p.V3095M|CSMD1_ENST00000400186.3_Missense_Mutation_p.V2919M|CSMD1_ENST00000520002.1_Missense_Mutation_p.V3096M|CSMD1_ENST00000602723.1_Missense_Mutation_p.V2919M	p.V3096M			Q96PZ7	CSMD1_HUMAN		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)	61	9841	-		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)	3096			Sushi 25.		Q0H0J5|Q96QU9|Q96RM4	Missense_Mutation	SNP	ENST00000520002.1	37	c.9286G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.66|17.66	3.444695|3.444695	0.63178|0.63178	.|.	.|.	ENSG00000183117|ENSG00000183117	ENST00000335551|ENST00000400186;ENST00000520002;ENST00000318252;ENST00000537824;ENST00000542608	.|T;T;T;T	.|0.29397	.|1.57;1.57;1.57;1.57	6.03|6.03	5.15|5.15	0.70609|0.70609	.|Complement control module (2);Sushi/SCR/CCP (1);	.|0.172710	.|0.36591	.|N	.|0.002514	T|T	0.55737|0.55737	0.1939|0.1939	M|M	0.88512|0.88512	2.96|2.96	0.80722|0.80722	D|D	1|1	.|D;P;D	.|0.76494	.|0.999;0.877;0.968	.|D;P;P	.|0.76071	.|0.987;0.541;0.763	T|T	0.61143|0.61143	-0.7122|-0.7122	5|10	.|0.62326	.|D	.|0.03	.|.	5.8231|5.8231	0.18538|0.18538	0.0:0.7513:0.0:0.2487|0.0:0.7513:0.0:0.2487	.|.	.|3096;3096;2918	.|E5RIG2;Q96PZ7;F5H2I8	.|.;CSMD1_HUMAN;.	H|M	2512|2919;3096;2957;3095;2918	.|ENSP00000383047:V2919M;ENSP00000430733:V3096M;ENSP00000441462:V3095M;ENSP00000446243:V2918M	.|ENSP00000320445:V2957M	R|V	-|-	2|1	0|0	CSMD1|CSMD1	2808322|2808322	1.000000|1.000000	0.71417|0.71417	0.989000|0.989000	0.46669|0.46669	0.157000|0.157000	0.22087|0.22087	1.917000|1.917000	0.39996|0.39996	2.854000|2.854000	0.98071|0.98071	0.655000|0.655000	0.94253|0.94253	CGT|GTG		0.498	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000374500.2	NM_033225		79	44	0	0	0	1	0	79	44					T	2820915	C	T	2820915	3	4	192	1	0	0	0	0	1	0	0	0	3944	536	19	1	1455	1	CSMD1	8	2820915	Missense_Mutation	SNP	C	TCGA-H9-7775-01A-11D-2114-08		2820915	143543107	19	8948											
ZNF7	7553	broad.mit.edu	37	chr8	146066910	146066910	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acagtcatctgggcagtcccGggctgaaagtgacaggcttt	9	9	13	10	1	2	2	1	2	1	0	3	2	3	2	1	3	0	3	1	3	1	1	rs537677717		TCGA-H9-7775-01A-11D-2114-08	TCGA-H9-7775-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cff41f62-8849-4654-807b-f02b1b04ba18	4992a5df-2ae7-4480-99ab-b908b3cdf96e	g.chr8:146066910G>A	ENST00000528372.1	+	5	658	c.418G>A	c.(418-420)Ggg>Agg	p.G140R	ZNF7_ENST00000544249.1_Missense_Mutation_p.G44R|ZNF7_ENST00000532393.1_3'UTR|ZNF7_ENST00000446747.2_Missense_Mutation_p.G151R|ZNF7_ENST00000529819.1_Intron|ZNF7_ENST00000325241.6_Missense_Mutation_p.G140R|ZNF7_ENST00000325217.5_Intron|ZNF7_ENST00000525266.1_Intron			P17097	ZNF7_HUMAN	zinc finger protein 7	140					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|kidney(1)|large_intestine(7)|lung(6)|ovary(5)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	all_cancers(97;1.03e-11)|all_epithelial(106;6.69e-11)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)	Breast(495;0.0812)|Ovarian(118;0.0822)|Acute lymphoblastic leukemia(644;0.143)	Epithelial(56;8.75e-39)|OV - Ovarian serous cystadenocarcinoma(54;1.13e-38)|all cancers(56;8.48e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;2.11e-07)		GGGCAGTCCCGGGCTGAAAGT	0.507													G|||	1	0.000199681	0	0.0014	5008	,	,		20146	0		0	False		,,,				2504	0					ENST00000528372.1																			0				endometrium(2)|kidney(1)|large_intestine(7)|lung(6)|ovary(5)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						c.(418-420)Ggg>Agg		zinc finger protein 7							138	145	143					8																	146066910		2203	4300	6503	SO:0001583	missense	7553				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr8:146066910G>A	AB209619	CCDS6435.1, CCDS64996.1, CCDS64998.1, CCDS64999.1	8q24	2013-01-08	2006-05-09		ENSG00000147789	ENSG00000147789		"Zinc fingers, C2H2-type", "-"	13139	protein-coding gene	gene with protein product		194531	"zinc finger protein 7 (KOX 4, clone HF.16)"			2106481, 1946370	Standard	NM_003416		Approved	KOX4, HF.16	uc003zeg.4	P17097	OTTHUMG00000165200	ENST00000528372.1:c.418G>A	8.37:g.146066910G>A	ENSP00000432724:p.Gly140Arg					ZNF7_ENST00000529819.1_Intron|ZNF7_ENST00000532393.1_3'UTR|ZNF7_ENST00000325217.5_Intron|ZNF7_ENST00000525266.1_Intron|ZNF7_ENST00000325241.6_Missense_Mutation_p.G140R|ZNF7_ENST00000544249.1_Missense_Mutation_p.G44R|ZNF7_ENST00000446747.2_Missense_Mutation_p.G151R	p.G140R			P17097	ZNF7_HUMAN	Epithelial(56;8.75e-39)|OV - Ovarian serous cystadenocarcinoma(54;1.13e-38)|all cancers(56;8.48e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;2.11e-07)	5	658	+	all_cancers(97;1.03e-11)|all_epithelial(106;6.69e-11)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)	Breast(495;0.0812)|Ovarian(118;0.0822)|Acute lymphoblastic leukemia(644;0.143)	140					B4DT08|D3DWN6|P17015|Q8N8Y4	Missense_Mutation	SNP	ENST00000528372.1	37	c.418G>A	CCDS6435.1	.	.	.	.	.	.	.	.	.	.	G	5.662	0.306780	0.10733	.	.	ENSG00000147789	ENST00000532777;ENST00000325241;ENST00000446747;ENST00000544249;ENST00000527218;ENST00000528372	T;T;T;T;T;T	0.10477	7.26;3.44;3.43;2.87;5.72;3.44	4.36	1.38	0.22167	.	0.953194	0.08567	N	0.926634	T	0.06872	0.0175	L	0.27053	0.805	0.09310	N	1	B;B	0.15473	0.013;0.013	B;B	0.04013	0.001;0.001	T	0.46735	-0.9170	10	0.13853	T	0.58	-0.4254	5.5417	0.17041	0.4162:0.0:0.5838:0.0	.	151;140	B4DT08;P17097	.;ZNF7_HUMAN	R	140;140;151;44;139;140	ENSP00000432641:G140R;ENSP00000320627:G140R;ENSP00000393260:G151R;ENSP00000439424:G44R;ENSP00000433656:G139R;ENSP00000432724:G140R	ENSP00000320627:G140R	G	+	1	0	ZNF7	146037714	0.002000	0.14202	0.000000	0.03702	0.004000	0.04260	1.336000	0.33850	0.058000	0.16222	0.462000	0.41574	GGG		0.507	ZNF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382660.1	NM_003416		5	150	0	0	0	1	0	5	150					A	146066910	G	A	146066910	3	1	192	1	0	0	0	0	1	0	0	0	18099	1116	39	2	432	2	ZNF7	8	146066910	Missense_Mutation	SNP	G	TCGA-H9-7775-01A-11D-2114-08	143245995	146066910	297112	20	8949											
PAPPA	5069	broad.mit.edu	37	chr9	119065088	119065088	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatggggtatgtgaggagttTgaacaaaaaaccagcattaa	16	9	12	4	0	0	2	0	2	0	0	0	4	0	3	1	3	3	3	1	3	6	3			TCGA-H9-7775-01A-11D-2114-08	TCGA-H9-7775-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cff41f62-8849-4654-807b-f02b1b04ba18	4992a5df-2ae7-4480-99ab-b908b3cdf96e	g.chr9:119065088T>C	ENST00000328252.3	+	10	3375	c.3006T>C	c.(3004-3006)ttT>ttC	p.F1002F	PAPPA_ENST00000534838.1_Silent_p.F40F|RP11-45A16.4_ENST00000451100.1_RNA	NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A, pappalysin 1	1002					cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|female pregnancy (GO:0007565)|response to follicle-stimulating hormone (GO:0032354)|response to glucocorticoid (GO:0051384)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)	endopeptidase activity (GO:0004175)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						GTGAGGAGTTTGAACAAAAAA	0.438																																						ENST00000328252.3																			0				NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						c.(3004-3006)ttT>ttC		pregnancy-associated plasma protein A, pappalysin 1							113	99	104					9																	119065088		2203	4300	6503	SO:0001819	synonymous_variant	5069				cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding	g.chr9:119065088T>C		CCDS6813.1	9q33.1	2014-03-05			ENSG00000182752	ENSG00000182752			8602	protein-coding gene	gene with protein product	"insulin-like growth factor-dependent IGF binding protein-4 protease", "aspecific BCL2 ARE-binding protein 2", "differentially placenta 1 expressed protein"	176385				7679961	Standard	NM_002581		Approved	PAPP-A, PAPPA1, IGFBP-4ase, PAPA, ASBABP2, DIPLA1	uc004bjn.3	Q13219	OTTHUMG00000021045	ENST00000328252.3:c.3006T>C	9.37:g.119065088T>C						RP11-45A16.4_ENST00000451100.1_RNA|PAPPA_ENST00000534838.1_Silent_p.F40F	p.F1002F	NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN			10	3375	+			1002					B1AMF9|Q08371|Q68G52|Q9UDK7	Silent	SNP	ENST00000328252.3	37	c.3006T>C	CCDS6813.1																																																																																				0.438	PAPPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055546.1	NM_002581		3	67	0	0	0	1	0	3	67					C	119065088	T	C	119065088	2	2	192	1	0	0	0	0	0	0	0	1	11432	1809	63	4		4	PAPPA	9	119065088	Silent	SNP	T	TCGA-H9-7775-01A-11D-2114-08		119065088	22148343	21	8950											
RASGEF1A	221002	broad.mit.edu	37	chr10	43696237	43696237	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cttgtctacagccggtggccGgagcttctctcgcagttcct	4	12	11	14	3	2	0	0	0	2	0	5	1	3	1	3	3	3	3	3	3	1	4	rs144867552		TCGA-H9-7775-01A-11D-2114-08	TCGA-H9-7775-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cff41f62-8849-4654-807b-f02b1b04ba18	4992a5df-2ae7-4480-99ab-b908b3cdf96e	g.chr10:43696237G>A	ENST00000395809.1	-	5	3065	c.559C>T	c.(559-561)Cgg>Tgg	p.R187W	RASGEF1A_ENST00000472864.1_5'UTR|RASGEF1A_ENST00000374459.1_Missense_Mutation_p.R195W|RASGEF1A_ENST00000395810.1_Missense_Mutation_p.R187W			Q8N9B8	RGF1A_HUMAN	RasGEF domain family, member 1A	187					cell migration (GO:0016477)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Ras protein signal transduction (GO:0046579)|small GTPase mediated signal transduction (GO:0007264)	intracellular (GO:0005622)	Ras guanyl-nucleotide exchange factor activity (GO:0005088)			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(2)	11						GCCGGTGGCCGGAGCTTCTCT	0.637													G|||	1	0.000199681	0	0	5008	,	,		19064	0		0	False		,,,				2504	0.001					ENST00000395809.1																			0				cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(2)	11						c.(559-561)Cgg>Tgg		RasGEF domain family, member 1A		G	TRP/ARG	0,4406		0,0,2203	66	62	63		559	5	0.9	10	dbSNP_134	63	1,8599	1.2+/-3.3	0,1,4299	no	missense	RASGEF1A	NM_145313.2	101	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	187/482	43696237	1,13005	2203	4300	6503	SO:0001583	missense	221002				cell migration|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	Ras guanyl-nucleotide exchange factor activity	g.chr10:43696237G>A	AK095136	CCDS7202.2, CCDS60517.1	10q11.21	2006-01-11			ENSG00000198915	ENSG00000198915			24246	protein-coding gene	gene with protein product		614531				12477932	Standard	XM_005271808		Approved	CG4853, FLJ37817	uc001jap.1	Q8N9B8	OTTHUMG00000018025	ENST00000395809.1:c.559C>T	10.37:g.43696237G>A	ENSP00000379154:p.Arg187Trp					RASGEF1A_ENST00000374459.1_Missense_Mutation_p.R195W|RASGEF1A_ENST00000472864.1_5'UTR|RASGEF1A_ENST00000395810.1_Missense_Mutation_p.R187W	p.R187W			Q8N9B8	RGF1A_HUMAN			5	3065	-			187					Q8TBF1	Missense_Mutation	SNP	ENST00000395809.1	37	c.559C>T	CCDS7202.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.86|16.86	3.240520|3.240520	0.58995|0.58995	0.0|0.0	1.16E-4|1.16E-4	ENSG00000198915|ENSG00000198915	ENST00000374455|ENST00000374459;ENST00000395810;ENST00000395809	.|T;T;T	.|0.30714	.|1.52;1.52;1.52	5.04|5.04	5.04|5.04	0.67666|0.67666	.|Ras guanine nucleotide exchange factor, domain (1);	.|0.080782	.|0.52532	.|D	.|0.000063	T|T	0.52468|0.52468	0.1736|0.1736	L|L	0.57536|0.57536	1.79|1.79	0.49798|0.49798	D|D	0.999827|0.999827	.|D;D	.|0.76494	.|0.998;0.999	.|P;D	.|0.67103	.|0.889;0.949	T|T	0.55121|0.55121	-0.8190|-0.8190	5|10	.|0.66056	.|D	.|0.02	.|.	18.4026|18.4026	0.90522|0.90522	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|187;195	.|Q8N9B8;Q8N9B8-2	.|RGF1A_HUMAN;.	L|W	88|195;187;187	.|ENSP00000363583:R195W;ENSP00000379155:R187W;ENSP00000379154:R187W	.|ENSP00000363583:R195W	P|R	-|-	2|1	0|2	RASGEF1A|RASGEF1A	43016243|43016243	1.000000|1.000000	0.71417|0.71417	0.927000|0.927000	0.36925|0.36925	0.265000|0.265000	0.26407|0.26407	4.753000|4.753000	0.62183|0.62183	2.333000|2.333000	0.79357|0.79357	0.455000|0.455000	0.32223|0.32223	CCG|CGG		0.637	RASGEF1A-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000313989.1	NM_145313		16	54	0	0	0	1	0	16	54					A	43696237	G	A	43696237	3	1	192	1	0	0	0	0	1	0	0	0	13069	1115	39	2	922	2	RASGEF1A	10	43696237	Missense_Mutation	SNP	G	TCGA-H9-7775-01A-11D-2114-08		43696237	91838510	22	8951											
GPAM	57678	broad.mit.edu	37	chr10	113920464	113920464	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggggtgataaaaaactcatCgttcctgctagtgtgggtga	10	11	14	6	1	1	2	1	2	0	0	3	2	2	2	1	3	2	2	1	3	4	3	rs151269022	byFrequency	TCGA-H9-7775-01A-11D-2114-08	TCGA-H9-7775-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cff41f62-8849-4654-807b-f02b1b04ba18	4992a5df-2ae7-4480-99ab-b908b3cdf96e	g.chr10:113920464C>A	ENST00000348367.4	-	16	1854	c.1657G>T	c.(1657-1659)Gat>Tat	p.D553Y	GPAM_ENST00000423155.1_Missense_Mutation_p.D553Y|GPAM_ENST00000369425.1_Missense_Mutation_p.D553Y			Q9HCL2	GPAT1_HUMAN	glycerol-3-phosphate acyltransferase, mitochondrial	553					acyl-CoA metabolic process (GO:0006637)|CDP-diacylglycerol biosynthetic process (GO:0016024)|cellular lipid metabolic process (GO:0044255)|defense response to virus (GO:0051607)|fatty acid homeostasis (GO:0055089)|fatty acid metabolic process (GO:0006631)|glycerophospholipid biosynthetic process (GO:0046474)|interleukin-2 secretion (GO:0070970)|negative regulation of activation-induced cell death of T cells (GO:0070236)|phosphatidic acid biosynthetic process (GO:0006654)|phospholipid homeostasis (GO:0055091)|phospholipid metabolic process (GO:0006644)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of multicellular organism growth (GO:0040018)|regulation of cytokine secretion (GO:0050707)|response to glucose (GO:0009749)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial outer membrane (GO:0005741)|plasma membrane (GO:0005886)	glycerol-3-phosphate O-acyltransferase activity (GO:0004366)			breast(2)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31				Epithelial(162;0.0306)|all cancers(201;0.123)		AAAAACTCATCGTTCCTGCTA	0.448																																					Ovarian(161;1017 2606 18293 52943)	ENST00000348367.4																			0				breast(2)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						c.(1657-1659)Gat>Tat		glycerol-3-phosphate acyltransferase, mitochondrial							153	126	135					10																	113920464		2203	4300	6503	SO:0001583	missense	57678				phospholipid biosynthetic process|triglyceride biosynthetic process	integral to membrane|mitochondrial outer membrane	glycerol-3-phosphate O-acyltransferase activity	g.chr10:113920464C>A	AL832464	CCDS7570.1	10q25.3	2009-07-15			ENSG00000119927	ENSG00000119927			24865	protein-coding gene	gene with protein product	"glycerol-3-phosphate acyltransferase 1, mitochondrial"	602395				10997877, 8369314	Standard	NM_020918		Approved	KIAA1560, MGC26846, GPAT1	uc001kzp.3	Q9HCL2	OTTHUMG00000019055	ENST00000348367.4:c.1657G>T	10.37:g.113920464C>A	ENSP00000265276:p.Asp553Tyr					GPAM_ENST00000369425.1_Missense_Mutation_p.D553Y|GPAM_ENST00000423155.1_Missense_Mutation_p.D553Y	p.D553Y			Q9HCL2	GPAT1_HUMAN		Epithelial(162;0.0306)|all cancers(201;0.123)	16	1854	-			553					Q5VW51|Q86TA3	Missense_Mutation	SNP	ENST00000348367.4	37	c.1657G>T	CCDS7570.1	.	.	.	.	.	.	.	.	.	.	C	14.66	2.602271	0.46423	.	.	ENSG00000119927	ENST00000348367;ENST00000423155;ENST00000369425	T;T;T	0.70045	-0.45;-0.45;-0.45	6.06	6.06	0.98353	.	0.226724	0.44902	D	0.000405	T	0.58836	0.2150	N	0.22421	0.69	0.43913	D	0.996555	D;D	0.58268	0.982;0.982	P;P	0.49477	0.612;0.612	T	0.62905	-0.6755	10	0.87932	D	0	-29.0964	9.4428	0.38679	0.0:0.8829:0.0:0.1171	.	553;553	Q5VW52;Q9HCL2	.;GPAT1_HUMAN	Y	553	ENSP00000265276:D553Y;ENSP00000409242:D553Y;ENSP00000358433:D553Y	ENSP00000265276:D553Y	D	-	1	0	GPAM	113910454	0.996000	0.38824	0.958000	0.39756	0.728000	0.41692	3.478000	0.53158	2.882000	0.98803	0.655000	0.94253	GAT		0.448	GPAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050377.1	NM_020918		7	48	1	0	0.00198382	1	0.00210528	7	48					A	113920464	C	A	113920464	3	1	192	1	0	0	0	0	1	0	0	0	6588	884	31	5	857	5	GPAM	10	113920464	Missense_Mutation	SNP	C	TCGA-H9-7775-01A-11D-2114-08	70224227	113920464	21614283	23	8952											
LRFN4	78999	broad.mit.edu	37	chr11	66625511	66625511	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tggggacctcgagagcctgcGttccctccaccttgacggca	6	8	12	15	3	0	2	0	1	0	1	3	4	2	3	5	3	2	2	5	3	0	2			TCGA-H9-7775-01A-11D-2114-08	TCGA-H9-7775-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cff41f62-8849-4654-807b-f02b1b04ba18	4992a5df-2ae7-4480-99ab-b908b3cdf96e	g.chr11:66625511G>A	ENST00000309602.4	+	1	539	c.296G>A	c.(295-297)cGt>cAt	p.R99H	PC_ENST00000393958.2_Intron|LRFN4_ENST00000393952.3_Missense_Mutation_p.R99H|PC_ENST00000393955.2_Intron|PC_ENST00000393960.1_Intron	NM_024036.4	NP_076941.2	Q6PJG9	LRFN4_HUMAN	leucine rich repeat and fibronectin type III domain containing 4	99						integral component of membrane (GO:0016021)				breast(1)|lung(1)|prostate(1)	3						GAGAGCCTGCGTTCCCTCCAC	0.657																																						ENST00000309602.4																			0				breast(1)|lung(1)|prostate(1)	3						c.(295-297)cGt>cAt		leucine rich repeat and fibronectin type III domain containing 4							35	39	38					11																	66625511		2200	4294	6494	SO:0001583	missense	78999					integral to membrane		g.chr11:66625511G>A	BC007718	CCDS8153.1	11q13.1	2013-02-11				ENSG00000173621		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	28456	protein-coding gene	gene with protein product	"fibronectin type III, immunoglobulin and leucine rich repeat domains 6"	612810				16495444, 16828986	Standard	NM_024036		Approved	MGC3103, SALM3., FIGLER6	uc001ojr.3	Q6PJG9		ENST00000309602.4:c.296G>A	11.37:g.66625511G>A	ENSP00000312535:p.Arg99His					PC_ENST00000393960.1_Intron|LRFN4_ENST00000393952.3_Missense_Mutation_p.R99H|PC_ENST00000393958.2_Intron|PC_ENST00000393955.2_Intron	p.R99H	NM_024036.4	NP_076941.2	Q6PJG9	LRFN4_HUMAN			1	539	+			99					Q4VBZ3|Q59GV4|Q8N644|Q9BWJ0	Missense_Mutation	SNP	ENST00000309602.4	37	c.296G>A	CCDS8153.1	.	.	.	.	.	.	.	.	.	.	G	15.69	2.907195	0.52333	.	.	ENSG00000173621	ENST00000393952;ENST00000309602;ENST00000525479	T;T	0.59772	0.24;0.24	4.17	4.17	0.49024	.	0.000000	0.48767	D	0.000167	T	0.64735	0.2625	L	0.43701	1.375	0.46981	D	0.999273	D;D	0.60160	0.987;0.987	P;P	0.60068	0.868;0.828	T	0.66697	-0.5858	10	0.52906	T	0.07	.	14.332	0.66564	0.0:0.0:1.0:0.0	.	99;99	E9PLQ1;Q6PJG9	.;LRFN4_HUMAN	H	99	ENSP00000377524:R99H;ENSP00000312535:R99H	ENSP00000312535:R99H	R	+	2	0	LRFN4	66382087	1.000000	0.71417	1.000000	0.80357	0.227000	0.25037	6.063000	0.71162	2.316000	0.78162	0.305000	0.20034	CGT		0.657	LRFN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393127.1	NM_024036		26	41	0	0	0	1	0	26	41					A	66625511	G	A	66625511	3	1	192	1	0	0	0	0	1	0	0	0	8940	1145	40	1	298	1	LRFN4	11	66625511	Missense_Mutation	SNP	G	TCGA-H9-7775-01A-11D-2114-08		66625511	68381005	24	8953											
FAT3	120114	broad.mit.edu	37	chr11	92568223	92568223	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtgcggttatcagtgaagaCgccttggtgggagactctgt	8	11	15	7	2	2	3	1	1	1	2	2	4	2	3	1	3	1	1	1	3	2	2			TCGA-H9-7775-01A-11D-2114-08	TCGA-H9-7775-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cff41f62-8849-4654-807b-f02b1b04ba18	4992a5df-2ae7-4480-99ab-b908b3cdf96e	g.chr11:92568223C>T	ENST00000298047.6	+	14	10076	c.10059C>T	c.(10057-10059)gaC>gaT	p.D3353D	FAT3_ENST00000525166.1_Silent_p.D3203D|FAT3_ENST00000409404.2_Silent_p.D3353D			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	3353	Cadherin 31. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				TCAGTGAAGACGCCTTGGTGG	0.488										TCGA Ovarian(4;0.039)																												ENST00000298047.6																			0				NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85						c.(10057-10059)gaC>gaT		FAT atypical cadherin 3							49	49	49					11																	92568223		1937	4145	6082	SO:0001819	synonymous_variant	120114				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr11:92568223C>T	AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"Cadherins / Cadherin-related"	23112	protein-coding gene	gene with protein product	"cadherin-related family member 10"	612483	"FAT tumor suppressor homolog 3 (Drosophila)"			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.10059C>T	11.37:g.92568223C>T		TCGA Ovarian(4;0.039)				FAT3_ENST00000409404.2_Silent_p.D3353D|FAT3_ENST00000525166.1_Silent_p.D3203D	p.D3353D			Q8TDW7	FAT3_HUMAN			14	10076	+		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)	3353			Cadherin 31.		B5MDB0|Q96AU6	Silent	SNP	ENST00000298047.6	37	c.10059C>T																																																																																					0.488	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781		4	19	0	0	0	1	0	4	19					T	92568223	C	T	92568223	2	4	192	1	0	0	0	0	0	0	0	1	5691	535	19	1		1	FAT3	11	92568223	Silent	SNP	C	TCGA-H9-7775-01A-11D-2114-08	25942712	92568223	42438293	25	8954											
MGAT4C	25834	broad.mit.edu	37	chr12	86373542	86373542	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catccttcagcttattctccGtccctttgtatgatgaataa	9	16	5	11	1	2	2	1	2	1	0	5	2	4	2	3	0	1	2	3	0	4	6	rs145801611	byFrequency	TCGA-H9-7775-01A-11D-2114-08	TCGA-H9-7775-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cff41f62-8849-4654-807b-f02b1b04ba18	4992a5df-2ae7-4480-99ab-b908b3cdf96e	g.chr12:86373542G>A	ENST00000604798.1	-	8	2166	c.962C>T	c.(961-963)aCg>aTg	p.T321M	MGAT4C_ENST00000332156.1_Missense_Mutation_p.T321M|MGAT4C_ENST00000552808.2_Missense_Mutation_p.T321M|MGAT4C_ENST00000548651.1_Missense_Mutation_p.T321M|MGAT4C_ENST00000552435.2_Silent_p.D109D|MGAT4C_ENST00000393205.2_Missense_Mutation_p.T350M|MGAT4C_ENST00000549405.2_Missense_Mutation_p.T321M			Q9UBM8	MGT4C_HUMAN	MGAT4 family, member C	321					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity (GO:0008454)|metal ion binding (GO:0046872)	p.T321M(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						CTTATTCTCCGTCCCTTTGTA	0.403																																						ENST00000604798.1																			1	Substitution - Missense(1)	p.T321M(1)	prostate(1)	breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						c.(961-963)aCg>aTg		mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme C (putative)		G	MET/THR	0,4406	2.1+/-5.4	0,0,2203	79	77	77		962	2.9	0	12	dbSNP_134	77	10,8590	7.1+/-27.0	0,10,4290	yes	missense	MGAT4C	NM_013244.3	81	0,10,6493	AA,AG,GG		0.1163,0.0,0.0769	possibly-damaging	321/479	86373542	10,12996	2203	4300	6503	SO:0001583	missense	25834				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity|metal ion binding	g.chr12:86373542G>A		CCDS9030.1	12q21	2014-07-14	2014-07-14		ENSG00000182050	ENSG00000182050		"Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"	30871	protein-coding gene	gene with protein product		607385	"mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme C (putative)"			10570912	Standard	NM_013244		Approved	HGNT-IV-H	uc001tal.4	Q9UBM8	OTTHUMG00000169846	ENST00000604798.1:c.962C>T	12.37:g.86373542G>A	ENSP00000474896:p.Thr321Met					MGAT4C_ENST00000549405.2_Missense_Mutation_p.T321M|MGAT4C_ENST00000393205.2_Missense_Mutation_p.T350M|MGAT4C_ENST00000552808.2_Missense_Mutation_p.T321M|MGAT4C_ENST00000548651.1_Missense_Mutation_p.T321M|MGAT4C_ENST00000332156.1_Missense_Mutation_p.T321M|MGAT4C_ENST00000552435.2_Silent_p.D109D	p.T321M			Q9UBM8	MGT4C_HUMAN			8	2166	-			321					B4DRH2|Q4G199|Q9UIU5	Missense_Mutation	SNP	ENST00000604798.1	37	c.962C>T	CCDS9030.1	.	.	.	.	.	.	.	.	.	.	G	6.016	0.371253	0.11409	0.0	0.001163	ENSG00000182050	ENST00000332156;ENST00000393205;ENST00000549405;ENST00000550460;ENST00000552808;ENST00000548651;ENST00000547225	T;T;T;T;T;T	0.46819	0.86;0.86;0.86;0.86;0.86;0.86	5.75	2.87	0.33458	.	0.333197	0.30800	N	0.008846	T	0.40145	0.1105	L	0.58101	1.795	0.20703	N	0.999869	P;P	0.41848	0.763;0.643	B;B	0.38156	0.266;0.266	T	0.30937	-0.9961	10	0.56958	D	0.05	-15.6009	7.4525	0.27246	0.0659:0.1231:0.683:0.128	.	350;321	B4DRH2;Q9UBM8	.;MGT4C_HUMAN	M	321;350;321;321;321;321;321	ENSP00000331664:T321M;ENSP00000376900:T350M;ENSP00000449022:T321M;ENSP00000446647:T321M;ENSP00000447253:T321M;ENSP00000449172:T321M	ENSP00000331664:T321M	T	-	2	0	MGAT4C	84897673	1.000000	0.71417	0.006000	0.13384	0.001000	0.01503	5.731000	0.68554	0.328000	0.23435	-0.171000	0.13296	ACG		0.403	MGAT4C-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406212.2	NM_013244		16	36	0	0	0	1	0	16	36					A	86373542	G	A	86373542	3	1	192	1	0	0	0	0	1	0	0	0	9547	1145	40	1	478	1	MGAT4C	12	86373542	Missense_Mutation	SNP	G	TCGA-H9-7775-01A-11D-2114-08		86373542	47478353	26	8955											
TCTN2	79867	broad.mit.edu	37	chr12	124171429	124171429	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gttcagacggtcctgcttcaCcggcgtgtttggaggagacg	6	10	15	10	4	2	2	2	0	0	2	3	4	3	3	2	4	1	3	2	4	0	3	rs552564996		TCGA-H9-7775-01A-11D-2114-08	TCGA-H9-7775-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cff41f62-8849-4654-807b-f02b1b04ba18	4992a5df-2ae7-4480-99ab-b908b3cdf96e	g.chr12:124171429C>A	ENST00000303372.5	+	6	739	c.611C>A	c.(610-612)aCc>aAc	p.T204N	TCTN2_ENST00000426174.2_Missense_Mutation_p.T203N	NM_001143850.2|NM_024809.4	NP_001137322.1|NP_079085.2	Q96GX1	TECT2_HUMAN	tectonic family member 2	204					cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|smoothened signaling pathway (GO:0007224)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|TCTN-B9D complex (GO:0036038)				breast(2)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000163)|Epithelial(86;0.000502)|all cancers(50;0.00451)		TCCTGCTTCACCGGCGTGTTT	0.527																																						ENST00000303372.5																			0				breast(2)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30						c.(610-612)aCc>aAc		tectonic family member 2							224	180	195					12																	124171429		2203	4300	6503	SO:0001583	missense	79867				cilium assembly|smoothened signaling pathway	integral to membrane		g.chr12:124171429C>A	AK056924	CCDS9253.1, CCDS45007.1	12q24.31	2011-04-12	2007-08-20	2007-08-20	ENSG00000168778	ENSG00000168778		"Tectonic proteins"	25774	protein-coding gene	gene with protein product	"Meckel syndrome, type 8"	613846	"chromosome 12 open reading frame 38"	C12orf38		21462283	Standard	NM_024809		Approved	FLJ12975, TECT2, MKS8	uc001ufp.3	Q96GX1	OTTHUMG00000168700	ENST00000303372.5:c.611C>A	12.37:g.124171429C>A	ENSP00000304941:p.Thr204Asn					TCTN2_ENST00000426174.2_Missense_Mutation_p.T203N	p.T204N	NM_001143850.2|NM_024809.4	NP_001137322.1|NP_079085.2	Q96GX1	TECT2_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000163)|Epithelial(86;0.000502)|all cancers(50;0.00451)	6	739	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		204					A8K7Y8|B3KPW5|Q9H966	Missense_Mutation	SNP	ENST00000303372.5	37	c.611C>A	CCDS9253.1	.	.	.	.	.	.	.	.	.	.	C	12.59	1.982958	0.34942	.	.	ENSG00000168778	ENST00000426174;ENST00000303372	D;D	0.82984	-1.67;-1.67	5.65	4.76	0.60689	Domain of unknown function DUF1619 (1);	0.823596	0.10849	N	0.627393	D	0.84009	0.5378	M	0.65975	2.015	0.09310	N	1	P;P	0.39624	0.681;0.681	P;P	0.44860	0.462;0.462	T	0.71642	-0.4531	10	0.22706	T	0.39	-14.4698	11.9009	0.52682	0.1207:0.6185:0.2608:0.0	.	203;204	A8K7Y8;Q96GX1	.;TECT2_HUMAN	N	203;204	ENSP00000395171:T203N;ENSP00000304941:T204N	ENSP00000304941:T204N	T	+	2	0	TCTN2	122737382	0.001000	0.12720	0.010000	0.14722	0.104000	0.19210	1.439000	0.35013	1.356000	0.45884	0.644000	0.83932	ACC		0.527	TCTN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000400652.1	NM_024809		54	78	1	0	1.13205e-32	1	1.2797e-32	54	78					A	124171429	C	A	124171429	3	1	192	1	0	0	0	0	1	0	0	0	15720	507	18	5	633	5	TCTN2	12	124171429	Missense_Mutation	SNP	C	TCGA-H9-7775-01A-11D-2114-08	37797887	124171429	9680466	27	8956											
EP400	57634	broad.mit.edu	37	chr12	132466837	132466837	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgcagtttgcacagcagccGcaagtggtagaggcccagac	10	6	13	12	1	0	2	0	0	0	2	0	2	0	2	2	2	4	6	2	2	2	2			TCGA-H9-7775-01A-11D-2114-08	TCGA-H9-7775-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cff41f62-8849-4654-807b-f02b1b04ba18	4992a5df-2ae7-4480-99ab-b908b3cdf96e	g.chr12:132466837G>T	ENST00000333577.4	+	6	1960	c.1851G>T	c.(1849-1851)ccG>ccT	p.P617P	EP400_ENST00000389562.2_Silent_p.P580P|EP400_ENST00000330386.6_Silent_p.P581P|EP400_ENST00000389561.2_Silent_p.P581P|EP400_ENST00000332482.4_Silent_p.P544P			Q96L91	EP400_HUMAN	E1A binding protein p400	617					chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		CACAGCAGCCGCAAGTGGTAG	0.657																																						ENST00000333577.4																			0				NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161						c.(1849-1851)ccG>ccT		E1A binding protein p400							92	89	90					12																	132466837		2203	4300	6503	SO:0001819	synonymous_variant	57634				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	g.chr12:132466837G>T	U80743	CCDS31929.1, CCDS31929.2	12q24.33	2008-02-01	2002-02-05	2002-02-08		ENSG00000183495			11958	protein-coding gene	gene with protein product		606265	"trinucleotide repeat containing 12"	TNRC12		9225980, 11509179	Standard	NM_015409		Approved	CAGH32, KIAA1498, P400, KIAA1818, DKFZP434I225	uc001ujn.3	Q96L91		ENST00000333577.4:c.1851G>T	12.37:g.132466837G>T						EP400_ENST00000389562.2_Silent_p.P580P|EP400_ENST00000389561.2_Silent_p.P581P|EP400_ENST00000332482.4_Silent_p.P544P|EP400_ENST00000330386.6_Silent_p.P581P	p.P617P			Q96L91	EP400_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)	6	1960	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)	617					O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	Silent	SNP	ENST00000333577.4	37	c.1851G>T																																																																																					0.657	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015409		11	94	1	0	0.0135373	1	0.0140788	11	94					T	132466837	G	T	132466837	2	4	192	1	0	0	0	0	0	0	0	1	5149	1074	38	5		5	EP400	12	132466837	Silent	SNP	G	TCGA-H9-7775-01A-11D-2114-08	8295408	132466837	1385058	28	8957											
PAPLN	89932	broad.mit.edu	37	chr14	73719446	73719446	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agccacggccagctgaccggCgttcctgcaatcttcaccct	7	8	9	17	3	2	1	1	1	1	0	3	1	3	1	5	2	3	3	5	2	1	2			TCGA-H9-7775-01A-11D-2114-08	TCGA-H9-7775-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cff41f62-8849-4654-807b-f02b1b04ba18	4992a5df-2ae7-4480-99ab-b908b3cdf96e	g.chr14:73719446C>T	ENST00000554301.1	+	10	1220	c.1057C>T	c.(1057-1059)Cgt>Tgt	p.R353C	PAPLN_ENST00000340738.5_Missense_Mutation_p.R326C|PAPLN_ENST00000381166.3_Missense_Mutation_p.R353C|PAPLN_ENST00000427855.1_Missense_Mutation_p.R353C|PAPLN_ENST00000555445.1_Missense_Mutation_p.R353C			O95428	PPN_HUMAN	papilin, proteoglycan-like sulfated glycoprotein	353	TSP type-1 2. {ECO:0000255|PROSITE- ProRule:PRU00210}.					basement membrane (GO:0005604)	metalloendopeptidase activity (GO:0004222)|serine-type endopeptidase inhibitor activity (GO:0004867)|zinc ion binding (GO:0008270)			NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(3)	42				BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.0468)		AGCTGACCGGCGTTCCTGCAA	0.632																																						ENST00000427855.1																			0				NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(3)	42						c.(1057-1059)Cgt>Tgt		papilin, proteoglycan-like sulfated glycoprotein							80	82	81					14																	73719446		2203	4300	6503	SO:0001583	missense	89932					proteinaceous extracellular matrix	metalloendopeptidase activity|serine-type endopeptidase inhibitor activity|zinc ion binding	g.chr14:73719446C>T	BC042057	CCDS32114.1	14q24.2	2013-01-11				ENSG00000100767		"Immunoglobulin superfamily / I-set domain containing"	19262	protein-coding gene	gene with protein product						11076767, 19734141	Standard	NM_173462		Approved	MGC50452	uc001xnw.4	O95428		ENST00000554301.1:c.1057C>T	14.37:g.73719446C>T	ENSP00000451803:p.Arg353Cys					PAPLN_ENST00000555445.1_Missense_Mutation_p.R353C|PAPLN_ENST00000340738.5_Missense_Mutation_p.R326C|PAPLN_ENST00000554301.1_Missense_Mutation_p.R353C|PAPLN_ENST00000381166.3_Missense_Mutation_p.R353C	p.R353C			O95428	PPN_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.0468)	11	1159	+			353			TSP type-1 2.		B4DES8|B4DGE6|Q659F2|Q6UXJ4|Q6ZNM1|Q6ZUJ0|Q7Z681|Q8IVU0	Missense_Mutation	SNP	ENST00000554301.1	37	c.1057C>T		.	.	.	.	.	.	.	.	.	.	C	15.94	2.980140	0.53827	.	.	ENSG00000100767	ENST00000340738;ENST00000427855;ENST00000381166;ENST00000554301;ENST00000555445	T;T;T;T;T	0.64260	-0.09;-0.09;-0.09;-0.09;-0.09	5.22	5.22	0.72569	.	.	.	.	.	D	0.85423	0.5693	H	0.96720	3.87	0.52501	D	0.999959	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.83275	0.964;0.979;0.996	D	0.89823	0.3990	9	0.87932	D	0	.	13.7427	0.62857	0.1537:0.8463:0.0:0.0	.	353;353;326	O95428-5;O95428;O95428-6	.;PPN_HUMAN;.	C	326;353;353;353;353	ENSP00000345395:R326C;ENSP00000403403:R353C;ENSP00000370558:R353C;ENSP00000451803:R353C;ENSP00000451729:R353C	ENSP00000216658:R353C	R	+	1	0	PAPLN	72789199	1.000000	0.71417	0.045000	0.18777	0.139000	0.21198	3.680000	0.54641	2.427000	0.82271	0.462000	0.41574	CGT		0.632	PAPLN-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000413182.1	NM_173462		50	99	0	0	0	1	0	50	99					T	73719446	C	T	73719446	3	4	192	1	0	0	0	0	1	0	0	0	11428	768	27	1	1010	1	PAPLN	14	73719446	Missense_Mutation	SNP	C	TCGA-H9-7775-01A-11D-2114-08		73719446	33630094	29	8958											
KCNK10	54207	broad.mit.edu	37	chr14	88658679	88658679	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgacagcagggatcgtcaCaaacacaatgcagccggcca	14	4	11	12	2	1	1	1	1	0	0	2	3	1	2	2	2	4	2	2	2	2	0			TCGA-H9-7775-01A-11D-2114-08	TCGA-H9-7775-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cff41f62-8849-4654-807b-f02b1b04ba18	4992a5df-2ae7-4480-99ab-b908b3cdf96e	g.chr14:88658679C>T	ENST00000340700.5	-	5	1193	c.742G>A	c.(742-744)Gtg>Atg	p.V248M	KCNK10_ENST00000312350.5_Missense_Mutation_p.V253M|KCNK10_ENST00000319231.5_Missense_Mutation_p.V253M	NM_021161.4	NP_066984.1	P57789	KCNKA_HUMAN	potassium channel, subfamily K, member 10	248					signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transport (GO:0006810)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	potassium channel activity (GO:0005267)|voltage-gated ion channel activity (GO:0005244)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	47						GGGATCGTCACAAACACAATG	0.498																																						ENST00000340700.5																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	47						c.(742-744)Gtg>Atg		potassium channel, subfamily K, member 10							200	182	188					14																	88658679		2203	4300	6503	SO:0001583	missense	54207				signal transduction	integral to membrane	potassium channel activity|voltage-gated ion channel activity	g.chr14:88658679C>T	AF279890	CCDS9880.1, CCDS9881.1, CCDS9882.1	14q31	2014-06-12						"Potassium channels", "Voltage-gated ion channels / Potassium channels, Two-P"	6273	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 97"	605873				10880510, 16382106	Standard	NM_021161		Approved	K2p10.1, TREK-2, TREK2, PPP1R97	uc001xwn.3	P57789		ENST00000340700.5:c.742G>A	14.37:g.88658679C>T	ENSP00000343104:p.Val248Met					KCNK10_ENST00000319231.5_Missense_Mutation_p.V253M|KCNK10_ENST00000312350.5_Missense_Mutation_p.V253M	p.V248M	NM_021161.4	NP_066984.1	P57789	KCNKA_HUMAN			5	1193	-			248					B2R8T4|B2RCT3|B5TJL4|Q6B014|Q8TDK7|Q8TDK8|Q9HB59	Missense_Mutation	SNP	ENST00000340700.5	37	c.742G>A	CCDS9880.1	.	.	.	.	.	.	.	.	.	.	C	31	5.079309	0.94050	.	.	ENSG00000100433	ENST00000340700;ENST00000312350;ENST00000319231	T;T;T	0.34667	1.35;1.35;1.35	5.89	5.89	0.94794	Ion transport 2 (1);	0.000000	0.85682	D	0.000000	T	0.61999	0.2392	M	0.66297	2.02	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.994	D;D;D	0.97110	1.0;0.999;0.949	T	0.60840	-0.7183	10	0.62326	D	0.03	.	20.248	0.98401	0.0:1.0:0.0:0.0	.	248;253;253	P57789;B2R8T4;Q6B014	KCNKA_HUMAN;.;.	M	248;253;253	ENSP00000343104:V248M;ENSP00000310568:V253M;ENSP00000312811:V253M	ENSP00000310568:V253M	V	-	1	0	KCNK10	87728432	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.818000	0.86416	2.790000	0.95986	0.655000	0.94253	GTG		0.498	KCNK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410167.1	NM_021161		40	96	0	0	0	1	0	40	96					T	88658679	C	T	88658679	3	4	192	1	0	0	0	0	1	0	0	0	8059	478	17	3	886	3	KCNK10	14	88658679	Missense_Mutation	SNP	C	TCGA-H9-7775-01A-11D-2114-08	14939233	88658679	18690861	30	8959											
TRPV3	162514	broad.mit.edu	37	chr17	3445844	3445844	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcctcctctgtgtactcggcGttgatgaacctgcccaggat	6	11	11	13	2	1	2	0	2	1	0	3	3	2	3	4	2	3	2	4	2	2	2	rs372599650		TCGA-H9-7775-01A-11D-2114-08	TCGA-H9-7775-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cff41f62-8849-4654-807b-f02b1b04ba18	4992a5df-2ae7-4480-99ab-b908b3cdf96e	g.chr17:3445844G>A	ENST00000576742.1	-	6	936	c.615C>T	c.(613-615)aaC>aaT	p.N205N	TRPV3_ENST00000301365.4_Silent_p.N205N|TRPV3_ENST00000572519.1_Silent_p.N205N	NM_001258205.1|NM_145068.3	NP_001245134.1|NP_659505.1	Q8NET8	TRPV3_HUMAN	transient receptor potential cation channel, subfamily V, member 3	205					calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|negative regulation of hair cycle (GO:0042636)|positive regulation of calcium ion import (GO:0090280)|response to heat (GO:0009408)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium channel activity (GO:0005262)			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(12)|ovary(5)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	35					Menthol(DB00825)	TGTACTCGGCGTTGATGAACC	0.562																																						ENST00000301365.4																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(12)|ovary(5)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	35						c.(613-615)aaC>aaT		transient receptor potential cation channel, subfamily V, member 3	Menthol(DB00825)	A		1,4405	2.1+/-5.4	0,1,2202	170	127	142		615	-10.7	0	17		142	3,8597	3.0+/-9.4	0,3,4297	no	coding-synonymous	TRPV3	NM_145068.2		0,4,6499	AA,AG,GG		0.0349,0.0227,0.0308		205/791	3445844	4,13002	2203	4300	6503	SO:0001819	synonymous_variant	162514					integral to membrane	calcium channel activity	g.chr17:3445844G>A	AF514998	CCDS11029.1, CCDS58500.1	17p13.3	2013-01-10			ENSG00000167723	ENSG00000167723		"Voltage-gated ion channels / Transient receptor potential cation channels", "Ankyrin repeat domain containing"	18084	protein-coding gene	gene with protein product		607066				12016205, 12077606, 16382100	Standard	NM_001258205		Approved	VRL3	uc002fvr.3	Q8NET8	OTTHUMG00000090695	ENST00000576742.1:c.615C>T	17.37:g.3445844G>A						TRPV3_ENST00000576742.1_Silent_p.N205N|TRPV3_ENST00000572519.1_Silent_p.N205N	p.N205N			Q8NET8	TRPV3_HUMAN			6	746	-			205					Q8NDW7|Q8NET9|Q8NFH2	Silent	SNP	ENST00000576742.1	37	c.615C>T	CCDS11029.1																																																																																				0.562	TRPV3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000207379.2	NM_145068		13	25	0	0	0	1	0	13	25					A	3445844	G	A	3445844	2	1	192	1	0	0	0	0	0	0	0	1	16594	1136	40	1		1	TRPV3	17	3445844	Silent	SNP	G	TCGA-H9-7775-01A-11D-2114-08		3445844	77749366	31	8960											
ZZEF1	23140	broad.mit.edu	37	chr17	3917452	3917452	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccactcggtgttgctcatgTcggaggtgaagcggtaatac	8	10	13	10	3	1	1	1	1	0	0	3	2	1	2	1	4	3	3	1	4	3	3			TCGA-H9-7775-01A-11D-2114-08	TCGA-H9-7775-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cff41f62-8849-4654-807b-f02b1b04ba18	4992a5df-2ae7-4480-99ab-b908b3cdf96e	g.chr17:3917452T>C	ENST00000381638.2	-	51	8469	c.8345A>G	c.(8344-8346)gAc>gGc	p.D2782G		NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN	zinc finger, ZZ-type with EF-hand domain 1	2782							calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						GTTGCTCATGTCGGAGGTGAA	0.572																																						ENST00000381638.2																			0				central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						c.(8344-8346)gAc>gGc		zinc finger, ZZ-type with EF-hand domain 1							104	85	92					17																	3917452		2203	4300	6503	SO:0001583	missense	23140						calcium ion binding|zinc ion binding	g.chr17:3917452T>C	BC035319	CCDS11043.1	17p13.3	2013-01-10	2004-11-03		ENSG00000074755	ENSG00000074755		"Zinc fingers, ZZ-type", "EF-hand domain containing"	29027	protein-coding gene	gene with protein product			"zinc finger, ZZ-type with EF hand domain 1"			9455477	Standard	XM_005256560		Approved	KIAA0399, ZZZ4, FLJ10821	uc002fxe.3	O43149	OTTHUMG00000090741	ENST00000381638.2:c.8345A>G	17.37:g.3917452T>C	ENSP00000371051:p.Asp2782Gly						p.D2782G	NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN			51	8469	-			2782					A7MBM5|Q6NXG0|Q6ZRA1|Q6ZSF4|Q9NVB9	Missense_Mutation	SNP	ENST00000381638.2	37	c.8345A>G	CCDS11043.1	.	.	.	.	.	.	.	.	.	.	T	31	5.093180	0.94149	.	.	ENSG00000074755	ENST00000381638	T	0.28069	1.63	5.69	5.69	0.88448	.	0.049433	0.85682	D	0.000000	T	0.39860	0.1094	N	0.19112	0.55	0.80722	D	1	D	0.76494	0.999	D	0.65323	0.934	T	0.34800	-0.9814	10	0.56958	D	0.05	-19.9959	15.945	0.79787	0.0:0.0:0.0:1.0	.	2782	O43149	ZZEF1_HUMAN	G	2782	ENSP00000371051:D2782G	ENSP00000371051:D2782G	D	-	2	0	ZZEF1	3864201	1.000000	0.71417	0.999000	0.59377	0.999000	0.98932	7.694000	0.84235	2.159000	0.67721	0.533000	0.62120	GAC		0.572	ZZEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207480.1	NM_015113		6	56	0	0	0	1	0	6	56					C	3917452	T	C	3917452	3	2	192	1	0	0	0	0	1	0	0	0	18252	1667	58	4	560	4	ZZEF1	17	3917452	Missense_Mutation	SNP	T	TCGA-H9-7775-01A-11D-2114-08	471608	3917452	77277758	32	8961											
DNAH9	1770	broad.mit.edu	37	chr17	11833352	11833352	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gaactccattaagatcaccaAtgagccccccacgggcatgc	12	6	8	15	1	1	2	1	1	0	1	2	3	2	2	5	1	3	1	5	1	3	1	rs547913025	byFrequency	TCGA-H9-7775-01A-11D-2114-08	TCGA-H9-7775-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cff41f62-8849-4654-807b-f02b1b04ba18	4992a5df-2ae7-4480-99ab-b908b3cdf96e	g.chr17:11833352A>G	ENST00000262442.4	+	63	12115	c.12047A>G	c.(12046-12048)aAt>aGt	p.N4016S	DNAH9_ENST00000454412.2_Intron|DNAH9_ENST00000608377.1_Missense_Mutation_p.N328S|DNAH9_ENST00000396001.2_3'UTR	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	4016	AAA 6. {ECO:0000250}.				cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		AAGATCACCAATGAGCCCCCC	0.602													A|||	4	0.000798722	8e-04	0	5008	,	,		18794	0		0	False		,,,				2504	0.0031					ENST00000262442.3																			0				NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290						c.(12046-12048)aAt>aGt		dynein, axonemal, heavy chain 9							73	59	64					17																	11833352		2203	4300	6503	SO:0001583	missense	1770				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:11833352A>G	U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"Axonemal dyneins"	2953	protein-coding gene	gene with protein product		603330	"dynein, axonemal, heavy polypeptide 17-like", "dynein, axonemal, heavy polypeptide 9"	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.12047A>G	17.37:g.11833352A>G	ENSP00000262442:p.Asn4016Ser					DNAH9_ENST00000454412.2_Intron|DNAH9_ENST00000396001.2_Missense_Mutation_p.N328S	p.N4016S	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)	63	12115	+		Breast(5;0.0122)|all_epithelial(5;0.131)	4016			AAA 6 (By similarity).		A2VCQ8|O15064|O95494|Q9NQ28	Missense_Mutation	SNP	ENST00000262442.4	37	c.12047A>G	CCDS11160.1	.	.	.	.	.	.	.	.	.	.	A	15.04	2.714682	0.48622	.	.	ENSG00000007174	ENST00000262442;ENST00000396001	T;T	0.10668	2.85;2.85	5.19	-0.857	0.10693	Dynein heavy chain (1);	0.133902	0.64402	N	0.000003	T	0.28400	0.0702	M	0.90145	3.09	0.37488	D	0.916281	B	0.34264	0.446	P	0.48227	0.571	T	0.30736	-0.9968	10	0.56958	D	0.05	.	11.8831	0.52586	0.6791:0.0:0.3209:0.0	.	4016	Q9NYC9	DYH9_HUMAN	S	4016;328	ENSP00000262442:N4016S;ENSP00000379323:N328S	ENSP00000262442:N4016S	N	+	2	0	DNAH9	11774077	0.889000	0.30405	0.103000	0.21229	0.928000	0.56348	1.906000	0.39887	-0.376000	0.07943	-1.366000	0.01203	AAT		0.602	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2	NM_001372		3	48	0	0	0	1	0	3	48					G	11833352	A	G	11833352	3	3	192	1	0	0	0	0	1	0	0	0	4608	101	4	4	12297	4	DNAH9	17	11833352	Missense_Mutation	SNP	A	TCGA-H9-7775-01A-11D-2114-08	7915900	11833352	69361858	33	8962											
TRIM16	10626	broad.mit.edu	37	chr17	15532066	15532066	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaatttgcaggcaaacttgtGaaccagagtcatggtatcat	14	11	9	7	0	2	2	2	1	0	1	2	2	2	2	1	2	3	3	1	2	4	3			TCGA-H9-7775-01A-11D-2114-08	TCGA-H9-7775-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cff41f62-8849-4654-807b-f02b1b04ba18	4992a5df-2ae7-4480-99ab-b908b3cdf96e	g.chr17:15532066G>A	ENST00000578237.1	-	11	2413	c.1558C>T	c.(1558-1560)Cac>Tac	p.H520Y	TRIM16_ENST00000416464.2_Missense_Mutation_p.H390Y|RP11-385D13.1_ENST00000455584.2_Intron|TRIM16_ENST00000579219.1_3'UTR|TRIM16_ENST00000577886.1_Missense_Mutation_p.H304Y|TRIM16_ENST00000336708.7_Missense_Mutation_p.H520Y			O95361	TRI16_HUMAN	tripartite motif containing 16	520	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				histone H3 acetylation (GO:0043966)|histone H4 acetylation (GO:0043967)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of retinoic acid receptor signaling pathway (GO:0048386)|positive regulation of transcription, DNA-templated (GO:0045893)|response to growth hormone (GO:0060416)|response to organophosphorus (GO:0046683)|response to retinoic acid (GO:0032526)	cytoplasm (GO:0005737)|PML body (GO:0016605)	DNA binding (GO:0003677)|interleukin-1 binding (GO:0019966)|NACHT domain binding (GO:0032089)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)	19				UCEC - Uterine corpus endometrioid carcinoma (92;0.0839)|Epithelial(1;8.4e-29)|all cancers(1;3.06e-28)|Colorectal(1;1.57e-19)|OV - Ovarian serous cystadenocarcinoma(1;6.1e-17)|COAD - Colon adenocarcinoma(1;3.38e-12)|READ - Rectum adenocarcinoma(2;1.46e-05)|BRCA - Breast invasive adenocarcinoma(8;0.0559)		GCAAACTTGTGAACCAGAGTC	0.507																																						ENST00000578237.1																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)	19						c.(1558-1560)Cac>Tac		tripartite motif containing 16							77	76	76					17																	15532066		2203	4300	6503	SO:0001583	missense	10626							g.chr17:15532066G>A	AF096870	CCDS11171.1	17p11.2	2011-04-20	2011-01-25		ENSG00000221926	ENSG00000221926		"Tripartite motif containing / Tripartite motif containing"	17241	protein-coding gene	gene with protein product	"estrogen-responsive B box protein"	609505	"tripartite motif-containing 16"			11331580	Standard	NM_006470		Approved	EBBP	uc002gor.1	O95361	OTTHUMG00000059067	ENST00000578237.1:c.1558C>T	17.37:g.15532066G>A	ENSP00000463188:p.His520Tyr					TRIM16_ENST00000577886.1_Missense_Mutation_p.H304Y|TRIM16_ENST00000416464.2_Missense_Mutation_p.H390Y|RP11-385D13.1_ENST00000455584.2_Intron|TRIM16_ENST00000579219.1_3'UTR|TRIM16_ENST00000336708.7_Missense_Mutation_p.H520Y	p.H520Y						UCEC - Uterine corpus endometrioid carcinoma (92;0.0839)|Epithelial(1;8.4e-29)|all cancers(1;3.06e-28)|Colorectal(1;1.57e-19)|OV - Ovarian serous cystadenocarcinoma(1;6.1e-17)|COAD - Colon adenocarcinoma(1;3.38e-12)|READ - Rectum adenocarcinoma(2;1.46e-05)|BRCA - Breast invasive adenocarcinoma(8;0.0559)	11	2413	-								Q6IAL8|Q7Z6I2|Q96BE8|Q96J43	Missense_Mutation	SNP	ENST00000578237.1	37	c.1558C>T	CCDS11171.1	.	.	.	.	.	.	.	.	.	.	.	20.8	4.051264	0.75960	.	.	ENSG00000221926	ENST00000336708;ENST00000416464	T;T	0.59364	0.27;0.27	4.72	4.72	0.59763	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	.	.	.	.	T	0.68997	0.3062	L	0.47016	1.485	0.47659	D	0.999487	D;D	0.76494	0.999;0.999	D;D	0.69824	0.955;0.966	T	0.70525	-0.4848	9	0.52906	T	0.07	.	15.5482	0.76126	0.0:0.0:1.0:0.0	.	390;520	B3KP96;O95361	.;TRI16_HUMAN	Y	520;390	ENSP00000338989:H520Y;ENSP00000399918:H390Y	ENSP00000338989:H520Y	H	-	1	0	TRIM16	15472791	1.000000	0.71417	0.995000	0.50966	0.878000	0.50629	7.213000	0.77950	2.335000	0.79485	0.650000	0.86243	CAC		0.507	TRIM16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130700.2	NM_006470		24	37	0	0	0	1	0	24	37					A	15532066	G	A	15532066	3	1	192	1	0	0	0	0	1	0	0	0	16488	1290	45	3	140	3	TRIM16	17	15532066	Missense_Mutation	SNP	G	TCGA-H9-7775-01A-11D-2114-08	3698714	15532066	65663144	34	8963											
EBI3	10148	broad.mit.edu	37	chr19	4231190	4231190	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctttctgtcttcctccagggCccccagcagctctgacactg	5	11	8	17	0	3	1	0	1	3	0	5	1	5	1	4	1	2	2	4	1	0	2			TCGA-H9-7775-01A-11D-2114-08	TCGA-H9-7775-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cff41f62-8849-4654-807b-f02b1b04ba18	4992a5df-2ae7-4480-99ab-b908b3cdf96e	g.chr19:4231190C>T	ENST00000221847.5	+	2	123	c.70C>T	c.(70-72)Ccc>Tcc	p.P24S		NM_005755.2	NP_005746.2	Q14213	IL27B_HUMAN	Epstein-Barr virus induced 3	24	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cytokine-mediated signaling pathway (GO:0019221)|humoral immune response (GO:0006959)|positive regulation of alpha-beta T cell proliferation (GO:0046641)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|T-helper 1 type immune response (GO:0042088)	extracellular space (GO:0005615)|plasma membrane (GO:0005886)	cytokine receptor activity (GO:0004896)			large_intestine(1)|lung(2)|ovary(1)|urinary_tract(1)	5		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0336)|STAD - Stomach adenocarcinoma(1328;0.18)		TCCTCCAGGGCCCCCAGCAGC	0.642																																						ENST00000221847.5																			0				large_intestine(1)|lung(2)|ovary(1)|urinary_tract(1)	5						c.(70-72)Ccc>Tcc		Epstein-Barr virus induced 3							29	27	28					19																	4231190		2203	4300	6503	SO:0001583	missense	10148				humoral immune response|positive regulation of alpha-beta T cell proliferation|positive regulation of interferon-gamma biosynthetic process|T-helper 1 type immune response	extracellular space|plasma membrane	cytokine activity|cytokine receptor activity	g.chr19:4231190C>T	L08187	CCDS12123.1	19p13	2013-02-11	2008-09-12		ENSG00000105246	ENSG00000105246		"Fibronectin type III domain containing"	3129	protein-coding gene	gene with protein product	"IL27 subunit", "IL35 subunit"	605816				8551575	Standard	NM_005755		Approved		uc002lzu.3	Q14213		ENST00000221847.5:c.70C>T	19.37:g.4231190C>T	ENSP00000221847:p.Pro24Ser						p.P24S	NM_005755.2	NP_005746.2	Q14213	IL27B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0336)|STAD - Stomach adenocarcinoma(1328;0.18)	2	123	+		Hepatocellular(1079;0.137)	24			Fibronectin type-III 1.		A0N0N2|O75269	Missense_Mutation	SNP	ENST00000221847.5	37	c.70C>T	CCDS12123.1	.	.	.	.	.	.	.	.	.	.	C	10.81	1.454017	0.26161	.	.	ENSG00000105246	ENST00000221847	T	0.21031	2.03	4.73	-4.73	0.03259	Fibronectin, type III (2);	43.633600	0.00166	N	0.000000	T	0.12305	0.0299	N	0.22421	0.69	0.09310	N	1	B	0.10296	0.003	B	0.09377	0.004	T	0.22452	-1.0216	10	0.21014	T	0.42	2.0661	5.6328	0.17520	0.0958:0.5669:0.1736:0.1637	.	24	Q14213	IL27B_HUMAN	S	24	ENSP00000221847:P24S	ENSP00000221847:P24S	P	+	1	0	EBI3	4182190	0.003000	0.15002	0.000000	0.03702	0.086000	0.17979	-0.794000	0.04584	-0.167000	0.10871	0.563000	0.77884	CCC		0.642	EBI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458005.1			12	28	0	0	0	1	0	12	28					T	4231190	C	T	4231190	3	4	192	1	0	0	0	0	1	0	0	0	4883	739	26	3	76	3	EBI3	19	4231190	Missense_Mutation	SNP	C	TCGA-H9-7775-01A-11D-2114-08		4231190	54897793	35	8964											
SEMA6B	10501	broad.mit.edu	37	chr19	4543619	4543619	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggggggcccccggcctagggCacggggggcgcagtcctgtc	3	4	20	14	3	0	0	0	0	0	0	2	0	1	0	4	8	0	2	4	8	1	1			TCGA-H9-7775-01A-11D-2114-08	TCGA-H9-7775-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cff41f62-8849-4654-807b-f02b1b04ba18	4992a5df-2ae7-4480-99ab-b908b3cdf96e	g.chr19:4543619C>T	ENST00000586582.1	-	17	2971	c.2661G>A	c.(2659-2661)gtG>gtA	p.V887V	SEMA6B_ENST00000301293.3_Silent_p.V887V|RN7SL121P_ENST00000584223.1_RNA|SEMA6B_ENST00000586965.1_Intron	NM_032108.3	NP_115484.2	Q9H3T3	SEM6B_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6B	887					cell differentiation (GO:0030154)|nervous system development (GO:0007399)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			breast(1)|central_nervous_system(2)|large_intestine(4)|lung(11)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0149)|STAD - Stomach adenocarcinoma(1328;0.18)		CGGCCTAGGGCACGGGGGGCG	0.766																																						ENST00000586582.1																			0				breast(1)|central_nervous_system(2)|large_intestine(4)|lung(11)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(2659-2661)gtG>gtA		sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6B							2	3	2					19																	4543619		983	2241	3224	SO:0001819	synonymous_variant	10501				cell differentiation|nervous system development	integral to membrane	receptor activity	g.chr19:4543619C>T	AB022433	CCDS12131.1	19p13.3	2008-07-22				ENSG00000167680		"Semaphorins"	10739	protein-coding gene	gene with protein product	"Sema VIb", "semaphorin Z", "semaphorin VIB"	608873		SEMAN		9361278	Standard	NM_032108		Approved	semaZ, SEMA-VIB, SEM-SEMA-Y	uc010dud.2	Q9H3T3		ENST00000586582.1:c.2661G>A	19.37:g.4543619C>T						SEMA6B_ENST00000301293.3_Silent_p.V887V|SEMA6B_ENST00000586965.1_Intron	p.V887V	NM_032108.3	NP_115484.2	Q9H3T3	SEM6B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0149)|STAD - Stomach adenocarcinoma(1328;0.18)	17	2971	-		Hepatocellular(1079;0.137)	887					A5PKU4|F6IB19|Q9NRK9	Silent	SNP	ENST00000586582.1	37	c.2661G>A	CCDS12131.1																																																																																				0.766	SEMA6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458656.2	NM_032108		3	9	0	0	0	1	0	3	9					T	4543619	C	T	4543619	2	4	192	1	0	0	0	0	0	0	0	1	14040	697	25	3		3	SEMA6B	19	4543619	Silent	SNP	C	TCGA-H9-7775-01A-11D-2114-08	312429	4543619	54585364	36	8965											
APLP1	333	broad.mit.edu	37	chr19	36362608	36362608	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tgtggagtatgtgtgctgtcCccctccagggacccccgacc	5	9	12	15	1	0	0	0	0	0	0	2	3	2	2	6	2	1	2	6	2	1	1			TCGA-H9-7775-01A-11D-2114-08	TCGA-H9-7775-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cff41f62-8849-4654-807b-f02b1b04ba18	4992a5df-2ae7-4480-99ab-b908b3cdf96e	g.chr19:36362608C>T	ENST00000221891.4	+	5	824	c.632C>T	c.(631-633)cCc>cTc	p.P211L	APLP1_ENST00000537454.2_Missense_Mutation_p.P172L|NPHS1_ENST00000591817.1_5'Flank|APLP1_ENST00000586861.1_Missense_Mutation_p.P205L	NM_001024807.1|NM_005166.3	NP_001019978.1|NP_005157.1	P51693	APLP1_HUMAN	amyloid beta (A4) precursor-like protein 1	211	Zinc-binding.				adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|apoptotic process (GO:0006915)|cell adhesion (GO:0007155)|cellular response to norepinephrine stimulus (GO:0071874)|endocytosis (GO:0006897)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|mRNA polyadenylation (GO:0006378)|negative regulation of cAMP biosynthetic process (GO:0030818)|nervous system development (GO:0007399)|organ morphogenesis (GO:0009887)|regulation of translation (GO:0006417)	basement membrane (GO:0005604)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	alpha-2A adrenergic receptor binding (GO:0031694)|alpha-2B adrenergic receptor binding (GO:0031695)|alpha-2C adrenergic receptor binding (GO:0031696)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|transition metal ion binding (GO:0046914)			breast(4)|endometrium(2)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	33	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			GTGTGCTGTCCCCCTCCAGGG	0.637																																						ENST00000221891.4																			0				breast(4)|endometrium(2)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	33						c.(631-633)cCc>cTc		amyloid beta (A4) precursor-like protein 1							102	91	95					19																	36362608		2203	4300	6503	SO:0001583	missense	333				apoptosis|cell adhesion|cellular response to norepinephrine stimulus|endocytosis|negative regulation of cAMP biosynthetic process|nervous system development|organ morphogenesis	basement membrane|integral to membrane|perinuclear region of cytoplasm|plasma membrane	alpha-2A adrenergic receptor binding|alpha-2B adrenergic receptor binding|alpha-2C adrenergic receptor binding|heparin binding|identical protein binding|metal ion binding	g.chr19:36362608C>T	U48437	CCDS32997.1	19q	2008-07-15							597	protein-coding gene	gene with protein product	"amyloid-like protein 1", "amyloid precursor-like protein 1"	104775				8432545	Standard	NM_001024807		Approved	APLP	uc002ocf.3	P51693		ENST00000221891.4:c.632C>T	19.37:g.36362608C>T	ENSP00000221891:p.Pro211Leu					APLP1_ENST00000586861.1_Missense_Mutation_p.P205L|APLP1_ENST00000537454.2_Missense_Mutation_p.P172L	p.P211L	NM_001024807.1|NM_005166.3	NP_001019978.1|NP_005157.1	P51693	APLP1_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0515)		5	824	+	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		211			Zinc-binding.		O00113|Q96A92	Missense_Mutation	SNP	ENST00000221891.4	37	c.632C>T	CCDS32997.1	.	.	.	.	.	.	.	.	.	.	C	24.9	4.578628	0.86645	.	.	ENSG00000105290	ENST00000537454;ENST00000221891	D;D	0.96856	-3.96;-4.15	4.41	4.41	0.53225	Amyloidogenic glycoprotein, extracellular (1);Amyloidogenic glycoprotein, extracellular domain conserved site (1);Amyloidogenic glycoprotein, copper-binding (3);	0.000000	0.45606	D	0.000345	D	0.97974	0.9333	M	0.84326	2.69	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;0.986;1.0;1.0	D	0.98894	1.0774	10	0.87932	D	0	-15.0667	14.4685	0.67499	0.0:1.0:0.0:0.0	.	205;172;211;211	B7Z4G8;F5GZ08;P51693-2;P51693	.;.;.;APLP1_HUMAN	L	172;211	ENSP00000441501:P172L;ENSP00000221891:P211L	ENSP00000221891:P211L	P	+	2	0	APLP1	41054448	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	6.679000	0.74513	2.006000	0.58801	0.462000	0.41574	CCC		0.637	APLP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452564.1	NM_001024807		14	62	0	0	0	1	0	14	62					T	36362608	C	T	36362608	3	4	192	1	0	0	0	0	1	0	0	0	778	623	22	3	650	3	APLP1	19	36362608	Missense_Mutation	SNP	C	TCGA-H9-7775-01A-11D-2114-08	31818989	36362608	22766375	37	8966											
CPXM1	56265	broad.mit.edu	37	chr20	2776682	2776682	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggcaggtgatggttggggacGatgtggggcaccttcccatc	6	9	17	9	1	0	1	0	1	0	0	2	3	1	2	2	7	0	3	2	7	0	2			TCGA-H9-7775-01A-11D-2114-08	TCGA-H9-7775-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cff41f62-8849-4654-807b-f02b1b04ba18	4992a5df-2ae7-4480-99ab-b908b3cdf96e	g.chr20:2776682G>A	ENST00000380605.2	-	10	1432	c.1368C>T	c.(1366-1368)atC>atT	p.I456I		NM_001184699.1|NM_019609.4	NP_001171628.1|NP_062555.1	Q96SM3	CPXM1_HUMAN	carboxypeptidase X (M14 family), member 1	456					cell adhesion (GO:0007155)	extracellular space (GO:0005615)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			endometrium(5)|kidney(5)|large_intestine(8)|lung(17)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	43						GGTTGGGGACGATGTGGGGCA	0.572																																						ENST00000380605.2																			0				endometrium(5)|kidney(5)|large_intestine(8)|lung(17)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	43						c.(1366-1368)atC>atT		carboxypeptidase X (M14 family), member 1							152	139	143					20																	2776682		2203	4300	6503	SO:0001819	synonymous_variant	56265				cell adhesion|proteolysis		metallocarboxypeptidase activity|zinc ion binding	g.chr20:2776682G>A	AL035460	CCDS13033.1	20p13	2012-02-10	2006-08-24	2006-08-24	ENSG00000088882	ENSG00000088882			15771	protein-coding gene	gene with protein product	"carboxypeptidase-like protein X1"	609555	"carboxypeptidase X (M14 family)"	CPXM		14702039	Standard	NM_019609		Approved	CPX-1, CPX1	uc002wgu.3	Q96SM3	OTTHUMG00000031706	ENST00000380605.2:c.1368C>T	20.37:g.2776682G>A							p.I456I	NM_001184699.1|NM_019609.4	NP_001171628.1|NP_062555.1	Q96SM3	CPXM1_HUMAN			10	1432	-			456					Q6P4G8|Q6UW65|Q9NUB5	Silent	SNP	ENST00000380605.2	37	c.1368C>T	CCDS13033.1																																																																																				0.572	CPXM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077643.2	NM_019609		69	86	0	0	0	1	0	69	86					A	2776682	G	A	2776682	2	1	192	1	0	0	0	0	0	0	0	1	3837	1048	37	2		2	CPXM1	20	2776682	Silent	SNP	G	TCGA-H9-7775-01A-11D-2114-08		2776682	60248838	38	8967											
DSCAM	1826	broad.mit.edu	37	chr21	41719856	41719856	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttaaccttcctgggactgatGgtggctttcagtggctctgg	5	14	13	9	0	2	1	1	1	1	0	3	2	3	2	2	5	1	2	2	5	1	3			TCGA-H9-7775-01A-11D-2114-08	TCGA-H9-7775-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cff41f62-8849-4654-807b-f02b1b04ba18	4992a5df-2ae7-4480-99ab-b908b3cdf96e	g.chr21:41719856G>T	ENST00000400454.1	-	6	1428	c.951C>A	c.(949-951)acC>acA	p.T317T		NM_001271534.1|NM_001389.3	NP_001258463.1|NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	317	Ig-like C2-type 4.				cell adhesion (GO:0007155)|dendrite morphogenesis (GO:0048813)|dendrite self-avoidance (GO:0070593)|locomotory behavior (GO:0007626)|negative regulation of cell adhesion (GO:0007162)|nervous system development (GO:0007399)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of phosphorylation (GO:0042327)|post-embryonic retina morphogenesis in camera-type eye (GO:0060060)	axon (GO:0030424)|extracellular region (GO:0005576)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				TGGGACTGATGGTGGCTTTCA	0.473																																					Melanoma(134;970 1778 1785 21664 32388)	ENST00000400454.1																			0				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142						c.(949-951)acC>acA		Down syndrome cell adhesion molecule							53	49	50					21																	41719856		1926	4153	6079	SO:0001819	synonymous_variant	1826				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding	g.chr21:41719856G>T	AF023449	CCDS42929.1	21q22.2-q22.3	2013-02-11			ENSG00000171587	ENSG00000171587		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	3039	protein-coding gene	gene with protein product		602523				9426258	Standard	NM_001271534		Approved	CHD2-42, CHD2-52	uc002yyq.1	O60469	OTTHUMG00000086732	ENST00000400454.1:c.951C>A	21.37:g.41719856G>T							p.T317T	NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN			6	1428	-		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)	317			Ig-like C2-type 4.		O60468	Silent	SNP	ENST00000400454.1	37	c.951C>A	CCDS42929.1																																																																																				0.473	DSCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195029.1	NM_001389		3	9	1	0	0.184627	1	0.188247	3	9					T	41719856	G	T	41719856	2	4	192	1	0	0	0	0	0	0	0	1	4768	1335	47	5		5	DSCAM	21	41719856	Silent	SNP	G	TCGA-H9-7775-01A-11D-2114-08		41719856	6410039	39	8968											
C21orf29	54084	broad.mit.edu	37	chr21	45953635	45953635	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggacacagccaggaccagtgTgtgccagcggccatccacca	10	4	12	15	1	0	0	0	0	0	0	1	2	1	2	6	3	3	0	6	3	0	0			TCGA-H9-7775-01A-11D-2114-08	TCGA-H9-7775-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cff41f62-8849-4654-807b-f02b1b04ba18	4992a5df-2ae7-4480-99ab-b908b3cdf96e	g.chr21:45953635T>A	ENST00000323084.4	-	3	540	c.475A>T	c.(475-477)Aca>Tca	p.T159S	TSPEAR_ENST00000397916.1_Missense_Mutation_p.T91S	NM_001272037.1|NM_144991.2	NP_001258966.1|NP_659428.2	Q8WU66	TSEAR_HUMAN	thrombospondin-type laminin G domain and EAR repeats	159	Laminin G-like.				sensory perception of sound (GO:0007605)	cell surface (GO:0009986)|ciliary membrane (GO:0060170)|extracellular region (GO:0005576)|stereocilium (GO:0032420)				breast(1)|central_nervous_system(6)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	37						AGGACCAGTGTGTGCCAGCGG	0.692																																						ENST00000323084.4																			0				breast(1)|central_nervous_system(6)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	37						c.(475-477)Aca>Tca		thrombospondin-type laminin G domain and EAR repeats							28	28	28					21																	45953635		2195	4287	6482	SO:0001583	missense	54084				cell adhesion	extracellular region	structural molecule activity	g.chr21:45953635T>A	AJ487962	CCDS13712.1, CCDS74801.1	21q22.3	2012-10-30	2011-01-25	2011-01-25	ENSG00000175894	ENSG00000175894			1268	protein-coding gene	gene with protein product		612920	"chromosome 21 open reading frame 29", "deafness, autosomal recessive 98"	C21orf29, DFNB98		12095917, 22678063	Standard	NM_144991		Approved	MGC11251, TSP-EAR	uc002zfe.1	Q8WU66	OTTHUMG00000041215	ENST00000323084.4:c.475A>T	21.37:g.45953635T>A	ENSP00000321987:p.Thr159Ser					TSPEAR_ENST00000397916.1_Missense_Mutation_p.T91S	p.T159S	NM_001272037.1|NM_144991.2	NP_001258966.1|NP_659428.2	Q8WU66	TSEAR_HUMAN			3	540	-			159			TSP N-terminal.			Missense_Mutation	SNP	ENST00000323084.4	37	c.475A>T	CCDS13712.1	.	.	.	.	.	.	.	.	.	.	t	13.98	2.398789	0.42512	.	.	ENSG00000175894	ENST00000323084;ENST00000397916;ENST00000341581	T;T	0.01998	4.51;4.51	4.99	3.83	0.44106	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (1);Laminin G, thrombospondin-type, N-terminal (1);	0.103078	0.64402	D	0.000003	T	0.03263	0.0095	M	0.67953	2.075	0.58432	D	0.99999	P	0.45474	0.859	B	0.39840	0.311	T	0.57388	-0.7820	10	0.16420	T	0.52	10.8461	10.5496	0.45081	0.0:0.0772:0.0:0.9228	.	159	Q8WU66	TSEAR_HUMAN	S	159;91;159	ENSP00000321987:T159S;ENSP00000381012:T91S	ENSP00000321987:T159S	T	-	1	0	TSPEAR	44778063	1.000000	0.71417	0.993000	0.49108	0.058000	0.15608	5.516000	0.67055	0.726000	0.32339	0.533000	0.62120	ACA		0.692	TSPEAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098761.1	NM_144991		15	31	0	0	0	1	0	15	31					A	45953635	T	A	45953635	3	1	192	1	0	0	0	0	1	0	0	0	2124	1696	59	5	1574	5	C21orf29	21	45953635	Missense_Mutation	SNP	T	TCGA-H9-7775-01A-11D-2114-08	4233779	45953635	2176260	40	8969											
SGSM3	27352	broad.mit.edu	37	chr22	40802485	40802485	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gaactcggcctccatcttcaAcacgctatcggatatcccgt	9	10	7	15	4	2	0	1	0	1	0	6	2	4	1	3	2	2	1	3	2	4	3			TCGA-H9-7775-01A-11D-2114-08	TCGA-H9-7775-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cff41f62-8849-4654-807b-f02b1b04ba18	4992a5df-2ae7-4480-99ab-b908b3cdf96e	g.chr22:40802485A>G	ENST00000248929.9	+	10	1193	c.1004A>G	c.(1003-1005)aAc>aGc	p.N335S	SGSM3_ENST00000454798.2_Missense_Mutation_p.N268S	NM_015705.4	NP_056520.2			small G protein signaling modulator 3											cervix(1)|endometrium(4)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|skin(6)	19						TCCATCTTCAACACGCTATCG	0.627																																						ENST00000248929.9																			0				cervix(1)|endometrium(4)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|skin(6)	19						c.(1003-1005)aAc>aGc		small G protein signaling modulator 3							50	34	39					22																	40802485		2203	4300	6503	SO:0001583	missense	27352				cell cycle arrest|Rap protein signal transduction	cytoplasm	Rab GTPase activator activity|Rab GTPase binding	g.chr22:40802485A>G	AL022238	CCDS14002.1	22q13.1-q13.2	2013-07-09	2007-08-14	2007-08-14	ENSG00000100359	ENSG00000100359		"Small G protein signaling modulators"	25228	protein-coding gene	gene with protein product	"RUN and SH3 containing 3"	610440	"RUN and TBC1 domain containing 3"	RUTBC3		11214971, 17509819	Standard	XM_005261572		Approved	DJ1042K10.2, RUSC3, RabGAP-5, RABGAP5	uc003ayu.1	Q96HU1	OTTHUMG00000151141	ENST00000248929.9:c.1004A>G	22.37:g.40802485A>G	ENSP00000248929:p.Asn335Ser					SGSM3_ENST00000454798.2_Missense_Mutation_p.N268S	p.N335S	NM_015705.4	NP_056520.2	Q96HU1	SGSM3_HUMAN			10	1193	+			335						Missense_Mutation	SNP	ENST00000248929.9	37	c.1004A>G	CCDS14002.1	.	.	.	.	.	.	.	.	.	.	A	24.1	4.495705	0.85069	.	.	ENSG00000100359	ENST00000248929;ENST00000545416;ENST00000454798	T;T	0.21361	2.01;2.01	5.57	5.57	0.84162	Rab-GAP/TBC domain (1);	0.000000	0.85682	D	0.000000	T	0.42108	0.1188	M	0.75615	2.305	0.80722	D	1	D;D;P;B	0.61697	0.99;0.99;0.699;0.369	P;P;B;B	0.57620	0.824;0.824;0.237;0.082	T	0.30563	-0.9974	10	0.45353	T	0.12	.	15.7234	0.77732	1.0:0.0:0.0:0.0	.	272;268;335;335	B4DVE3;B4DMS2;Q96HU1-2;Q96HU1	.;.;.;SGSM3_HUMAN	S	335;278;268	ENSP00000248929:N335S;ENSP00000390998:N268S	ENSP00000248929:N335S	N	+	2	0	SGSM3	39132431	1.000000	0.71417	1.000000	0.80357	0.622000	0.37654	8.895000	0.92512	2.120000	0.65058	0.383000	0.25322	AAC		0.627	SGSM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321504.2	NM_015705		5	36	0	0	0	1	0	5	36					G	40802485	A	G	40802485	3	3	192	1	0	0	0	0	1	0	0	0	14224	43	2	4	1038	4	SGSM3	22	40802485	Missense_Mutation	SNP	A	TCGA-H9-7775-01A-11D-2114-08		40802485	10502081	41	8970											
ATP6AP2	10159	broad.mit.edu	37	chrX	40457949	40457949	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gaaggttgacctgctctttcTttctgaactgcaagtgctac	8	14	9	10	0	3	2	0	2	3	0	3	3	3	2	1	1	5	4	1	1	4	4			TCGA-H9-7775-01A-11D-2114-08	TCGA-H9-7775-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cff41f62-8849-4654-807b-f02b1b04ba18	4992a5df-2ae7-4480-99ab-b908b3cdf96e	g.chrX:40457949T>C	ENST00000378438.4	+	6	709	c.551T>C	c.(550-552)cTt>cCt	p.L184P	ATP6AP2_ENST00000486558.1_3'UTR|ATP6AP2_ENST00000535539.1_Missense_Mutation_p.L152P|ATP6AP2_ENST00000535777.1_Missense_Mutation_p.L106P|ATP6AP2_ENST00000544975.1_Missense_Mutation_p.L108P	NM_005765.2	NP_005756.2	O75787	RENR_HUMAN	ATPase, H+ transporting, lysosomal accessory protein 2	184					angiotensin maturation (GO:0002003)|cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|eye pigmentation (GO:0048069)|head morphogenesis (GO:0060323)|positive regulation of transforming growth factor beta1 production (GO:0032914)|positive regulation of Wnt signaling pathway (GO:0030177)|proteolysis (GO:0006508)|regulation of MAPK cascade (GO:0043408)|rostrocaudal neural tube patterning (GO:0021903)	cell body (GO:0044297)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	aspartic-type endopeptidase activity (GO:0004190)|receptor activity (GO:0004872)			endometrium(1)|large_intestine(1)|lung(2)	4						CTGCTCTTTCTTTCTGAACTG	0.363																																						ENST00000378438.4																			0				endometrium(1)|large_intestine(1)|lung(2)	4						c.(550-552)cTt>cCt		ATPase, H+ transporting, lysosomal accessory protein 2							209	189	196					X																	40457949		2203	4300	6503	SO:0001583	missense	10159				angiotensin maturation|positive regulation of transforming growth factor-beta1 production|regulation of MAPKKK cascade	external side of plasma membrane|integral to membrane	protein binding|receptor activity	g.chrX:40457949T>C	AF248966	CCDS14252.1	Xp11.4	2014-06-17	2003-08-28	2003-08-29	ENSG00000182220	ENSG00000182220			18305	protein-coding gene	gene with protein product	"prorenin receptor", "renin receptor"	300556	"ATPase, H+ transporting, lysosomal interacting protein 2"	ATP6IP2		9556572, 11590366	Standard	NM_005765		Approved	M8-9, APT6M8-9, ATP6M8-9, PRR, RENR	uc004det.3	O75787	OTTHUMG00000024103	ENST00000378438.4:c.551T>C	X.37:g.40457949T>C	ENSP00000367697:p.Leu184Pro					ATP6AP2_ENST00000486558.1_3'UTR|ATP6AP2_ENST00000544975.1_Missense_Mutation_p.L108P|ATP6AP2_ENST00000535777.1_Missense_Mutation_p.L106P|ATP6AP2_ENST00000535539.1_Missense_Mutation_p.L152P	p.L184P	NM_005765.2	NP_005756.2	O75787	RENR_HUMAN			6	709	+			184					B7Z9I3|Q5QTQ7|Q6T7F5|Q8NBP3|Q8NG15|Q96FV6|Q96LB5|Q9H2P8|Q9UG89	Missense_Mutation	SNP	ENST00000378438.4	37	c.551T>C	CCDS14252.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	19.64|19.64	3.865483|3.865483	0.71949|0.71949	.|.	.|.	ENSG00000182220|ENSG00000182220	ENST00000538655;ENST00000447485|ENST00000535539;ENST00000378438;ENST00000436783;ENST00000544975;ENST00000535777	.|T;T;T;T;T	.|0.73897	.|1.26;1.17;0.48;1.18;-0.79	5.42|5.42	5.42|5.42	0.78866|0.78866	.|.	.|0.056673	.|0.64402	.|D	.|0.000001	D|D	0.85548|0.85548	0.5722|0.5722	M|M	0.76574|0.76574	2.34|2.34	0.80722|0.80722	D|D	1|1	.|D;D;D;D	.|0.89917	.|0.998;1.0;0.999;1.0	.|D;D;D;D	.|0.91635	.|0.951;0.999;0.959;0.979	D|D	0.87287|0.87287	0.2296|0.2296	5|10	.|0.72032	.|D	.|0.01	-0.2496|-0.2496	14.7042|14.7042	0.69176|0.69176	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|106;152;108;184	.|B7Z1I9;B7Z9I3;B7Z413;O75787	.|.;.;.;RENR_HUMAN	L|P	147;159|152;184;184;108;106	.|ENSP00000438415:L152P;ENSP00000367697:L184P;ENSP00000403969:L184P;ENSP00000440459:L108P;ENSP00000441536:L106P	.|ENSP00000367697:L184P	F|L	+|+	1|2	0|0	ATP6AP2|ATP6AP2	40342893|40342893	1.000000|1.000000	0.71417|0.71417	0.992000|0.992000	0.48379|0.48379	0.993000|0.993000	0.82548|0.82548	7.136000|7.136000	0.77285|0.77285	1.921000|1.921000	0.55644|0.55644	0.417000|0.417000	0.27973|0.27973	TTT|CTT		0.363	ATP6AP2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060679.1	NM_005765		33	24	0	0	0	1	0	33	24					C	40457949	T	C	40457949	3	2	192	1	0	0	0	0	1	0	0	0	1167	1609	56	4	573	4	ATP6AP2	23	40457949	Missense_Mutation	SNP	T	TCGA-H9-7775-01A-11D-2114-08		40457949	114812611	42	8971											
FAM123B	139285	broad.mit.edu	37	chrX	63412939	63412939	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcccagaacctttgctccgTccccctccaaagaaactagg	10	9	6	16	1	0	2	0	0	0	2	4	2	4	2	6	1	3	1	6	1	4	3			TCGA-H9-7775-01A-11D-2114-08	TCGA-H9-7775-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cff41f62-8849-4654-807b-f02b1b04ba18	4992a5df-2ae7-4480-99ab-b908b3cdf96e	g.chrX:63412939T>C	ENST00000330258.3	-	2	500	c.228A>G	c.(226-228)ggA>ggG	p.G76G	AMER1_ENST00000403336.1_Silent_p.G76G|AMER1_ENST00000374869.3_Silent_p.G76G	NM_152424.3	NP_689637.3	Q5JTC6	AMER1_HUMAN	APC membrane recruitment protein 1	76					adipose tissue development (GO:0060612)|bone development (GO:0060348)|mesenchymal cell differentiation involved in kidney development (GO:0072161)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|regulation of canonical Wnt signaling pathway (GO:0060828)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)	p.0?(67)									CTTTGCTCCGTCCCCCTCCAA	0.537																																						ENST00000330258.3																			67	Whole gene deletion(67)	p.0?(67)	kidney(65)|ovary(1)|large_intestine(1)								c.(226-228)ggA>ggG		APC membrane recruitment protein 1							129	102	111					X																	63412939		2203	4300	6503	SO:0001819	synonymous_variant	139285							g.chrX:63412939T>C	AK097146	CCDS14377.2	Xq11.1	2012-12-03	2012-12-03	2012-12-03	ENSG00000184675	ENSG00000184675		"-"	26837	protein-coding gene	gene with protein product	"Wilms Tumor on the X", "adenomatous polyposis coli membrane recruitment 1"	300647	"family with sequence similarity 123B"	FAM123B		21304492, 21498506, 20843316	Standard	NM_152424		Approved	RP11-403E24.2, FLJ39827, WTX	uc004dvo.3	Q5JTC6	OTTHUMG00000021703	ENST00000330258.3:c.228A>G	X.37:g.63412939T>C						AMER1_ENST00000374869.3_Silent_p.G76G|AMER1_ENST00000403336.1_Silent_p.G76G	p.G76G	NM_152424.3	NP_689637.3					2	500	-								A2IB86|Q8N885	Silent	SNP	ENST00000330258.3	37	c.228A>G	CCDS14377.2																																																																																				0.537	AMER1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316584.1	NM_152424		3	43	0	0	0	1	0	3	43					C	63412939	T	C	63412939	2	2	192	1	0	0	0	0	0	0	0	1	5423	1654	58	4		4	FAM123B	23	63412939	Silent	SNP	T	TCGA-H9-7775-01A-11D-2114-08	22954990	63412939	91857621	43	8972											
HMGB3	3149	broad.mit.edu	37	chrX	150156360	150156360	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaagaggaggaggaagaagaGgaggaggaggaggaggagga	17	0	24	0	0	0	3	0	0	0	3	0	14	0	13	0	10	0	0	0	10	3	0			TCGA-H9-7775-01A-11D-2114-08	TCGA-H9-7775-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cff41f62-8849-4654-807b-f02b1b04ba18	4992a5df-2ae7-4480-99ab-b908b3cdf96e	g.chrX:150156360G>A	ENST00000325307.7	+	5	672	c.576G>A	c.(574-576)gaG>gaA	p.E192E	HMGB3_ENST00000448905.2_Silent_p.E192E	NM_005342.2	NP_005333.2	O15347	HMGB3_HUMAN	high mobility group box 3	192	Asp/Glu-rich (acidic).				DNA recombination (GO:0006310)|multicellular organismal development (GO:0007275)	chromosome (GO:0005694)|nucleus (GO:0005634)	DNA binding, bending (GO:0008301)|double-stranded DNA binding (GO:0003690)|poly(A) RNA binding (GO:0044822)	p.E192E(1)		endometrium(3)|large_intestine(2)|lung(2)|skin(1)	8	Acute lymphoblastic leukemia(192;6.56e-05)					aggaagaagaggaggaggagg	0.443																																						ENST00000325307.7																			1	Substitution - coding silent(1)	p.E192E(1)	large_intestine(1)	endometrium(3)|large_intestine(2)|lung(2)|skin(1)	8						c.(574-576)gaG>gaA		high mobility group box 3							50	48	49					X																	150156360		2202	4299	6501	SO:0001819	synonymous_variant	3149				DNA recombination|multicellular organismal development	chromosome|nucleus	DNA bending activity|double-stranded DNA binding	g.chrX:150156360G>A	AF274572	CCDS35428.1	Xq28	2011-07-01	2011-04-05	2002-08-16	ENSG00000029993	ENSG00000029993		"High-mobility group / Canonical"	5004	protein-coding gene	gene with protein product	"non-histone chromosomal protein"	300193	"high-mobility group (nonhistone chromosomal) protein 4", "high-mobility group box 3"	HMG4		9598312	Standard	XM_005274665		Approved	HMG2A, MGC90319	uc004fep.3	O15347	OTTHUMG00000024162	ENST00000325307.7:c.576G>A	X.37:g.150156360G>A						HMGB3_ENST00000448905.2_Silent_p.E192E	p.E192E	NM_005342.2	NP_005333.2	O15347	HMGB3_HUMAN			5	672	+	Acute lymphoblastic leukemia(192;6.56e-05)		192			Asp/Glu-rich (acidic).		O95556|Q6NS40	Silent	SNP	ENST00000325307.7	37	c.576G>A	CCDS35428.1																																																																																				0.443	HMGB3-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060867.1	NM_005342		3	13	0	0	0	1	0	3	13					A	150156360	G	A	150156360	2	1	192	1	0	0	0	0	0	0	0	1	7227	991	35	3		3	HMGB3	23	150156360	Silent	SNP	G	TCGA-H9-7775-01A-11D-2114-08	86743421	150156360	5114200	44	8973											
KIF1B	23095	broad.mit.edu	37	chr1	10380118	10380118	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caggactatgagagtaaattGcaggccttgcagaagcaggt	13	8	13	7	0	0	2	0	1	0	2	0	4	0	3	1	3	3	4	1	3	4	4			TCGA-H9-A6BX-01A-31D-A30X-08	TCGA-H9-A6BX-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30eed465-db39-4e44-8663-e25e7d2dfe01	59d383d8-c1ee-4cf7-b802-0a75b257e576	g.chr1:10380118G>A	ENST00000377086.1	+	23	2335	c.2133G>A	c.(2131-2133)ttG>ttA	p.L711L	KIF1B_ENST00000377081.1_Silent_p.L711L|KIF1B_ENST00000263934.6_Silent_p.L665L			O60333	KIF1B_HUMAN	kinesin family member 1B	711					anterograde axon cargo transport (GO:0008089)|apoptotic process (GO:0006915)|cytoskeleton-dependent intracellular transport (GO:0030705)|microtubule-based movement (GO:0007018)|mitochondrion transport along microtubule (GO:0047497)|neuromuscular synaptic transmission (GO:0007274)|neuron-neuron synaptic transmission (GO:0007270)|vesicle-mediated transport (GO:0016192)	cytoplasmic vesicle (GO:0031410)|cytoplasmic vesicle membrane (GO:0030659)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|kinesin binding (GO:0019894)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)			breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2)	71	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)		AGAGTAAATTGCAGGCCTTGC	0.443																																						ENST00000377086.1																			0				breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2)	71						c.(2131-2133)ttG>ttA		kinesin family member 1B							58	54	56					1																	10380118		2203	4300	6503	SO:0001819	synonymous_variant	23095				anterograde axon cargo transport|apoptosis|neuromuscular synaptic transmission|neuron-neuron synaptic transmission	cytoplasmic vesicle membrane|microtubule|microtubule associated complex|mitochondrion	ATP binding|ATPase activity|kinesin binding|microtubule motor activity|protein binding	g.chr1:10380118G>A	AF257176	CCDS111.1, CCDS112.1	1p36.22	2014-09-17			ENSG00000054523	ENSG00000054523		"Kinesins", "Pleckstrin homology (PH) domain containing"	16636	protein-coding gene	gene with protein product		605995		CMT2A, CMT2		11389829, 10762626	Standard	NM_015074		Approved	KIAA0591, KLP, HMSNII	uc001aqw.4	O60333	OTTHUMG00000001817	ENST00000377086.1:c.2133G>A	1.37:g.10380118G>A						KIF1B_ENST00000263934.6_Silent_p.L665L|KIF1B_ENST00000377081.1_Silent_p.L711L	p.L711L			O60333	KIF1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)	23	2335	+	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)	711					A6NFS8|A6NKQ4|Q4VXC3|Q4VXC4|Q4VXC5|Q4VXC6|Q96Q94|Q9BV80|Q9P280	Silent	SNP	ENST00000377086.1	37	c.2133G>A																																																																																					0.443	KIF1B-001	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000005102.1			8	21	0	0	0	1	0	8	21					A	10380118	G	A	10380118	2	1	193	1	0	0	0	0	0	0	0	1	8284	1310	46	3		3	KIF1B	1	10380118	Silent	SNP	G	TCGA-H9-A6BX-01A-31D-A30X-08		10380118	238870503	1	8974											
MYBPH	4608	broad.mit.edu	37	chr1	203140290	203140290	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcagcattgcagccccagaCgtccaggagcctgatgctgc	9	6	12	14	1	0	2	0	1	0	1	1	3	1	3	4	1	7	4	4	1	0	1			TCGA-H9-A6BX-01A-31D-A30X-08	TCGA-H9-A6BX-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30eed465-db39-4e44-8663-e25e7d2dfe01	59d383d8-c1ee-4cf7-b802-0a75b257e576	g.chr1:203140290C>T	ENST00000255416.4	-	6	889	c.832G>A	c.(832-834)Gtc>Atc	p.V278I		NM_004997.2	NP_004988.2	Q13203	MYBPH_HUMAN	myosin binding protein H	278	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|regulation of striated muscle contraction (GO:0006942)	myosin filament (GO:0032982)	structural constituent of muscle (GO:0008307)			endometrium(5)|large_intestine(6)|lung(7)|skin(1)|urinary_tract(1)	20			BRCA - Breast invasive adenocarcinoma(75;0.153)	Colorectal(1306;0.0306)		CAGCCCCAGACGTCCAGGAGC	0.612																																					NSCLC(32;174 1025 14462 23899 42933)	ENST00000255416.4																			0				endometrium(5)|large_intestine(6)|lung(7)|skin(1)|urinary_tract(1)	20						c.(832-834)Gtc>Atc		myosin binding protein H							86	82	84					1																	203140290		2203	4300	6503	SO:0001583	missense	4608				cell adhesion|regulation of striated muscle contraction	myosin filament	structural constituent of muscle	g.chr1:203140290C>T	BC044226	CCDS30975.1	1q32.1	2013-02-11	2001-11-28		ENSG00000133055	ENSG00000133055		"Myosin binding proteins", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	7552	protein-coding gene	gene with protein product		160795	"myosin-binding protein H"			8486381	Standard	NM_004997		Approved		uc001gzh.1	Q13203	OTTHUMG00000042121	ENST00000255416.4:c.832G>A	1.37:g.203140290C>T	ENSP00000255416:p.Val278Ile						p.V278I	NM_004997.2	NP_004988.2	Q13203	MYBPH_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.153)	Colorectal(1306;0.0306)	6	889	-			278			Fibronectin type-III 2.		Q16886|Q86YC5	Missense_Mutation	SNP	ENST00000255416.4	37	c.832G>A	CCDS30975.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.014036	0.75161	.	.	ENSG00000133055	ENST00000255416	T	0.57436	0.4	5.2	5.2	0.72013	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.48286	D	0.000183	T	0.51787	0.1695	L	0.48935	1.535	0.38801	D	0.955194	P	0.39831	0.69	B	0.40101	0.319	T	0.57015	-0.7883	10	0.48119	T	0.1	.	19.1051	0.93291	0.0:1.0:0.0:0.0	.	278	Q13203	MYBPH_HUMAN	I	278	ENSP00000255416:V278I	ENSP00000255416:V278I	V	-	1	0	MYBPH	201406913	0.753000	0.28349	0.998000	0.56505	0.929000	0.56500	1.430000	0.34914	2.578000	0.87016	0.655000	0.94253	GTC		0.612	MYBPH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000100264.1	NM_004997		4	75	0	0	0	1	0	4	75					T	203140290	C	T	203140290	3	4	193	1	0	0	0	0	1	0	0	0	10014	536	19	1	621	1	MYBPH	1	203140290	Missense_Mutation	SNP	C	TCGA-H9-A6BX-01A-31D-A30X-08	192760172	203140290	46110331	2	8975											
SETD2	29072	broad.mit.edu	37	chr3	47103828	47103828	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gccaacagcatcccttcctcGttcagttgctaagggaaaag	11	9	9	12	1	1	0	1	0	0	0	4	1	3	1	3	1	3	4	3	1	4	4			TCGA-H9-A6BX-01A-31D-A30X-08	TCGA-H9-A6BX-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30eed465-db39-4e44-8663-e25e7d2dfe01	59d383d8-c1ee-4cf7-b802-0a75b257e576	g.chr3:47103828G>A	ENST00000409792.3	-	14	6160	c.6118C>T	c.(6118-6120)Cga>Tga	p.R2040*	SETD2_ENST00000492397.1_5'UTR	NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2	2040					angiogenesis (GO:0001525)|cell migration involved in vasculogenesis (GO:0035441)|coronary vasculature morphogenesis (GO:0060977)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic placenta morphogenesis (GO:0060669)|forebrain development (GO:0030900)|histone H3-K36 trimethylation (GO:0097198)|mesoderm morphogenesis (GO:0048332)|mismatch repair (GO:0006298)|morphogenesis of a branching structure (GO:0001763)|neural tube closure (GO:0001843)|nucleosome organization (GO:0034728)|pericardium development (GO:0060039)|regulation of mRNA export from nucleus (GO:0010793)|regulation of transcription, DNA-templated (GO:0006355)|stem cell development (GO:0048864)|transcription elongation from RNA polymerase II promoter (GO:0006368)	chromosome (GO:0005694)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)			breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		TCCCTTCCTCGTTCAGTTGCT	0.388			"N, F, S, Mis"		clear cell renal carcinoma																																	ENST00000409792.3				Rec	yes		3	3p21.31	29072	"N, F, S, Mis"	SET domain containing 2			E			clear cell renal carcinoma		0				breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141						c.(6118-6120)Cga>Tga		SET domain containing 2							199	202	201					3																	47103828		2203	4300	6503	SO:0001587	stop_gained	29072				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding	g.chr3:47103828G>A	AJ238403	CCDS2749.2	3p21.31	2014-09-17			ENSG00000181555	ENSG00000181555		"Chromatin-modifying enzymes / K-methyltransferases"	18420	protein-coding gene	gene with protein product		612778				16118227, 11461154	Standard	NM_014159		Approved	HYPB, HIF-1, KIAA1732, FLJ23184, KMT3A	uc003cqs.3	Q9BYW2	OTTHUMG00000133514	ENST00000409792.3:c.6118C>T	3.37:g.47103828G>A	ENSP00000386759:p.Arg2040*					SETD2_ENST00000492397.1_5'UTR	p.R2040*	NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)	14	6160	-		Acute lymphoblastic leukemia(5;0.0169)	2040					O75397|O75405|Q17RW8|Q5BKS9|Q5QGN2|Q69YI5|Q6IN64|Q6ZN53|Q6ZS25|Q8N3R0|Q8TCN0|Q9C0D1|Q9H696|Q9NZW9	Nonsense_Mutation	SNP	ENST00000409792.3	37	c.6118C>T	CCDS2749.2	.	.	.	.	.	.	.	.	.	.	G	44	10.715565	0.99455	.	.	ENSG00000181555	ENST00000451092;ENST00000409792	.	.	.	4.77	3.83	0.44106	.	0.000000	0.42420	D	0.000710	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.0351	0.71738	0.0:0.0:0.8576:0.1424	.	.	.	.	X	2040	.	ENSP00000386759:R2040X	R	-	1	2	SETD2	47078832	1.000000	0.71417	1.000000	0.80357	0.737000	0.42083	4.345000	0.59360	2.639000	0.89480	0.455000	0.32223	CGA		0.388	SETD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257479.2	NM_014159		10	215	0	0	0	1	0	10	215					A	47103828	G	A	47103828	4	1	193	1	0	0	0	0	0	1	0	0	14131	1153	40	1	1608	1	SETD2	3	47103828	Nonsense_Mutation	SNP	G	TCGA-H9-A6BX-01A-31D-A30X-08		47103828	150918602	3	8976											
STAB1	23166	broad.mit.edu	37	chr3	52529474	52529474	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccactctgcctcctggccttCtgcctggcaggcttcagctt	3	12	9	17	0	3	0	1	0	2	0	4	0	4	0	5	3	3	3	5	3	0	3			TCGA-H9-A6BX-01A-31D-A30X-08	TCGA-H9-A6BX-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30eed465-db39-4e44-8663-e25e7d2dfe01	59d383d8-c1ee-4cf7-b802-0a75b257e576	g.chr3:52529474C>T	ENST00000321725.6	+	1	121	c.45C>T	c.(43-45)ttC>ttT	p.F15F		NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN	stabilin 1	15					cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|defense response to bacterium (GO:0042742)|inflammatory response (GO:0006954)|negative regulation of angiogenesis (GO:0016525)|oxidation-reduction process (GO:0055114)|receptor-mediated endocytosis (GO:0006898)	endocytic vesicle membrane (GO:0030666)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	hyaluronic acid binding (GO:0005540)|low-density lipoprotein particle binding (GO:0030169)|low-density lipoprotein receptor activity (GO:0005041)|protein disulfide oxidoreductase activity (GO:0015035)|scavenger receptor activity (GO:0005044)			breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		TCCTGGCCTTCTGCCTGGCAG	0.692																																						ENST00000321725.6																			0				breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76						c.(43-45)ttC>ttT		stabilin 1							13	14	14					3																	52529474		2199	4291	6490	SO:0001819	synonymous_variant	23166				cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity	g.chr3:52529474C>T	AJ275213	CCDS33768.1	3p21.31	2008-07-18			ENSG00000010327	ENSG00000010327			18628	protein-coding gene	gene with protein product	"MS-1 antigen", "fasciclin egf-like, laminin-type egf-like, and link domain-containing scavenger receptor-1", "common lymphatic endothelial and vascular endothelial receptor-1"	608560				11829752, 12077138	Standard	XM_005264973		Approved	KIAA0246, STAB-1, FEEL-1, CLEVER-1, FELE-1, FEX1	uc003dej.3	Q9NY15	OTTHUMG00000158574	ENST00000321725.6:c.45C>T	3.37:g.52529474C>T							p.F15F	NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)	1	121	+			15					A7E297|Q8IUH0|Q8IUH1|Q93072	Silent	SNP	ENST00000321725.6	37	c.45C>T	CCDS33768.1																																																																																				0.692	STAB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351380.2	NM_015136		3	24	0	0	0	1	0	3	24					T	52529474	C	T	52529474	2	4	193	1	0	0	0	0	0	0	0	1	15236	912	32	3		3	STAB1	3	52529474	Silent	SNP	C	TCGA-H9-A6BX-01A-31D-A30X-08	5425646	52529474	145492956	4	8977											
DNAJB8	165721	broad.mit.edu	37	chr3	128181414	128181414	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttgctgtccatccatttgagCtgctccttgccgttcacagt	5	15	8	13	1	1	1	1	1	0	0	4	1	4	1	4	0	4	4	4	0	0	4			TCGA-H9-A6BX-01A-31D-A30X-08	TCGA-H9-A6BX-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30eed465-db39-4e44-8663-e25e7d2dfe01	59d383d8-c1ee-4cf7-b802-0a75b257e576	g.chr3:128181414C>A	ENST00000469083.1	-	2	3232	c.675G>T	c.(673-675)caG>caT	p.Q225H	DNAJB8_ENST00000319153.3_Missense_Mutation_p.Q225H|DNAJB8-AS1_ENST00000471626.1_RNA			Q8NHS0	DNJB8_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 8	225					chaperone-mediated protein folding (GO:0061077)|negative regulation of inclusion body assembly (GO:0090084)	cytosol (GO:0005829)|nucleus (GO:0005634)	chaperone binding (GO:0051087)|protein binding involved in protein folding (GO:0044183)|unfolded protein binding (GO:0051082)			kidney(1)|large_intestine(4)|lung(4)|prostate(1)|skin(1)	11				GBM - Glioblastoma multiforme(114;0.177)		TCCATTTGAGCTGCTCCTTGC	0.632																																						ENST00000469083.1																			0				kidney(1)|large_intestine(4)|lung(4)|prostate(1)|skin(1)	11						c.(673-675)caG>caT		DnaJ (Hsp40) homolog, subfamily B, member 8							154	123	133					3																	128181414		2203	4300	6503	SO:0001583	missense	165721				protein folding		heat shock protein binding|unfolded protein binding	g.chr3:128181414C>A		CCDS3048.1	3q21.3	2014-01-21			ENSG00000179407	ENSG00000179407		"Heat shock proteins / DNAJ (HSP40)"	23699	protein-coding gene	gene with protein product		611337					Standard	NM_153330		Approved	MGC33884, CT156	uc003ekk.2	Q8NHS0	OTTHUMG00000159690	ENST00000469083.1:c.675G>T	3.37:g.128181414C>A	ENSP00000417418:p.Gln225His					DNAJB8_ENST00000319153.3_Missense_Mutation_p.Q225H	p.Q225H			Q8NHS0	DNJB8_HUMAN		GBM - Glioblastoma multiforme(114;0.177)	2	3232	-			225					B3KWV7	Missense_Mutation	SNP	ENST00000469083.1	37	c.675G>T	CCDS3048.1	.	.	.	.	.	.	.	.	.	.	C	11.31	1.602405	0.28534	.	.	ENSG00000179407	ENST00000469083;ENST00000319153	T;T	0.64618	-0.11;-0.11	4.58	3.69	0.42338	.	1.008970	0.07949	N	0.980529	T	0.67135	0.2861	M	0.86502	2.82	0.35425	D	0.793535	B	0.13145	0.007	B	0.12837	0.008	T	0.68800	-0.5313	10	0.48119	T	0.1	.	8.9771	0.35941	0.0:0.7496:0.1632:0.0872	.	225	Q8NHS0	DNJB8_HUMAN	H	225	ENSP00000417418:Q225H;ENSP00000316053:Q225H	ENSP00000316053:Q225H	Q	-	3	2	DNAJB8	129664104	1.000000	0.71417	1.000000	0.80357	0.172000	0.22775	2.134000	0.42102	2.093000	0.63338	0.555000	0.69702	CAG		0.632	DNAJB8-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356933.1	NM_153330		6	141	1	0	8.12818e-05	1	8.9023e-05	6	141					A	128181414	C	A	128181414	3	1	193	1	0	0	0	0	1	0	0	0	4626	796	28	5	27	5	DNAJB8	3	128181414	Missense_Mutation	SNP	C	TCGA-H9-A6BX-01A-31D-A30X-08	75651940	128181414	69841016	5	8978											
URGCP	55665	broad.mit.edu	37	chr7	43917695	43917695	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cgacctttaggcccagtttgCgggctgcgtgcgccatgtcc	4	10	13	14	4	0	0	0	0	0	0	1	1	1	0	4	2	3	2	4	2	1	3			TCGA-H9-A6BX-01A-31D-A30X-08	TCGA-H9-A6BX-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30eed465-db39-4e44-8663-e25e7d2dfe01	59d383d8-c1ee-4cf7-b802-0a75b257e576	g.chr7:43917695C>T	ENST00000453200.1	-	6	1860	c.1367G>A	c.(1366-1368)cGc>cAc	p.R456H	URGCP_ENST00000402306.3_Missense_Mutation_p.R447H|URGCP_ENST00000223341.7_Missense_Mutation_p.R413H|URGCP_ENST00000336086.6_Missense_Mutation_p.R413H|URGCP_ENST00000447717.3_Missense_Mutation_p.R413H|URGCP-MRPS24_ENST00000603700.1_Intron|URGCP_ENST00000443736.1_Missense_Mutation_p.R413H|URGCP_ENST00000497914.1_5'UTR			Q8TCY9	URGCP_HUMAN	upregulator of cell proliferation	456					cell cycle (GO:0007049)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	GTP binding (GO:0005525)			breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|liver(1)|lung(13)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						GCCCAGTTTGCGGGCTGCGTG	0.582																																						ENST00000336086.6																			0				breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|liver(1)|lung(13)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						c.(1237-1239)cGc>cAc		upregulator of cell proliferation							110	116	114					7																	43917695		2052	4187	6239	SO:0001583	missense	55665				cell cycle	centrosome|nucleus	GTP binding	g.chr7:43917695C>T		CCDS43572.1, CCDS47577.1, CCDS47578.1	7p13	2010-02-17			ENSG00000106608	ENSG00000106608			30890	protein-coding gene	gene with protein product	"up-regulated gene 4"	610337				10819331, 12082552	Standard	NM_017920		Approved	URG4, KIAA1507, FLJ20654, DKFZp666G166, DKFZp686O0457	uc003tiw.3	Q8TCY9	OTTHUMG00000155245	ENST00000453200.1:c.1367G>A	7.37:g.43917695C>T	ENSP00000396918:p.Arg456His					URGCP_ENST00000223341.7_Missense_Mutation_p.R413H|URGCP_ENST00000402306.3_Missense_Mutation_p.R447H|URGCP_ENST00000453200.1_Missense_Mutation_p.R456H|URGCP_ENST00000447717.3_Missense_Mutation_p.R413H|URGCP_ENST00000497914.1_5'UTR|URGCP_ENST00000443736.1_Missense_Mutation_p.R413H|RP5-1165K10.1_ENST00000603700.1_Intron	p.R413H			Q8TCY9	URGCP_HUMAN			4	3474	-			456					E9PFF6|Q658M4|Q68DH6|Q6MZZ5|Q8WV98|Q9NWR7|Q9P221	Missense_Mutation	SNP	ENST00000453200.1	37	c.1238G>A	CCDS47578.1	.	.	.	.	.	.	.	.	.	.	C	11.95	1.791585	0.31685	.	.	ENSG00000106608	ENST00000223341;ENST00000336086;ENST00000402306;ENST00000443736;ENST00000453200;ENST00000447717	T;T;T;T;T;T	0.11063	2.83;2.83;2.82;2.83;2.81;2.83	5.79	5.79	0.91817	.	0.627975	0.16017	N	0.233482	T	0.11495	0.0280	M	0.64170	1.965	0.28688	N	0.904731	P;P	0.38745	0.645;0.645	B;B	0.25884	0.064;0.064	T	0.13791	-1.0496	10	0.39692	T	0.17	-26.1282	13.1502	0.59484	0.0:0.8397:0.1603:0.0	.	447;456	Q8TCY9-2;Q8TCY9	.;URGCP_HUMAN	H	413;413;447;413;456;413	ENSP00000223341:R413H;ENSP00000336872:R413H;ENSP00000384955:R447H;ENSP00000392136:R413H;ENSP00000396918:R456H;ENSP00000402803:R413H	ENSP00000223341:R413H	R	-	2	0	URGCP	43884220	0.013000	0.17824	0.932000	0.37286	0.307000	0.27823	1.065000	0.30592	2.735000	0.93741	0.655000	0.94253	CGC		0.582	URGCP-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000338995.1	NM_001077664		4	172	0	0	0	1	0	4	172					T	43917695	C	T	43917695	3	4	193	1	0	0	0	0	1	0	0	0	17023	768	27	1	1432	1	URGCP	7	43917695	Missense_Mutation	SNP	C	TCGA-H9-A6BX-01A-31D-A30X-08		43917695	115220968	6	8979											
CCBL1	883	broad.mit.edu	37	chr9	131599993	131599993	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggggttgttgggggtgttgaGgaccagggctttggtgcgtg	3	12	22	4	1	0	1	0	1	0	0	0	2	0	2	1	7	1	4	1	7	0	4			TCGA-H9-A6BX-01A-31D-A30X-08	TCGA-H9-A6BX-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30eed465-db39-4e44-8663-e25e7d2dfe01	59d383d8-c1ee-4cf7-b802-0a75b257e576	g.chr9:131599993G>C	ENST00000302586.3	-	6	700	c.538C>G	c.(538-540)Ctc>Gtc	p.L180V	CCBL1_ENST00000436267.2_Missense_Mutation_p.L274V|CCBL1_ENST00000320665.6_Missense_Mutation_p.L130V|CCBL1_ENST00000483599.1_5'UTR	NM_001122671.1|NM_004059.4	NP_001116143.1|NP_004050.3	Q16773	KAT1_HUMAN	cysteine conjugate-beta lyase, cytoplasmic	180					cellular amino acid biosynthetic process (GO:0008652)|cellular modified amino acid metabolic process (GO:0006575)|cellular nitrogen compound metabolic process (GO:0034641)|kynurenine metabolic process (GO:0070189)|L-kynurenine catabolic process (GO:0097053)|L-phenylalanine catabolic process (GO:0006559)|small molecule metabolic process (GO:0044281)|tryptophan catabolic process (GO:0006569)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	cysteine-S-conjugate beta-lyase activity (GO:0047804)|glutamine-phenylpyruvate transaminase activity (GO:0047316)|kynurenine-oxoglutarate transaminase activity (GO:0016212)|L-glutamine:pyruvate aminotransferase activity (GO:0047945)|L-phenylalanine-oxaloacetate transaminase activity (GO:0036141)|L-phenylalanine:pyruvate aminotransferase activity (GO:0047312)|protein homodimerization activity (GO:0042803)|pyridoxal phosphate binding (GO:0030170)|transaminase activity (GO:0008483)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(1)	18					L-Glutamine(DB00130)	GGGGTGTTGAGGACCAGGGCT	0.607																																						ENST00000436267.2																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(1)	18						c.(820-822)Ctc>Gtc		cysteine conjugate-beta lyase, cytoplasmic	L-Glutamine(DB00130)|Pyridoxal Phosphate(DB00114)						76	82	80					9																	131599993		2036	4181	6217	SO:0001583	missense	883				kynurenine metabolic process|L-phenylalanine catabolic process|tryptophan catabolic process	cytosol|nucleus	1-aminocyclopropane-1-carboxylate synthase activity|cysteine-S-conjugate beta-lyase activity|glutamine-phenylpyruvate transaminase activity|kynurenine-oxoglutarate transaminase activity|L-glutamine:pyruvate aminotransferase activity|L-phenylalanine:pyruvate aminotransferase activity|protein homodimerization activity|pyridoxal phosphate binding	g.chr9:131599993G>C	Y17448	CCDS43884.1, CCDS48038.1, CCDS75915.1	9q34.11	2008-03-11	2008-03-11		ENSG00000171097	ENSG00000171097	2.6.1.64		1564	protein-coding gene	gene with protein product	"glutamine transaminase K", "kyneurenine aminotransferase"	600547	"cysteine conjugate-beta lyase; cytoplasmic (glutamine transaminase K, kyneurenine aminotransferase)"			7883047	Standard	NM_001122671		Approved	KATI, GTK	uc004bwh.3	Q16773	OTTHUMG00000020767	ENST00000302586.3:c.538C>G	9.37:g.131599993G>C	ENSP00000302227:p.Leu180Val					CCBL1_ENST00000320665.6_Missense_Mutation_p.L130V|CCBL1_ENST00000483599.1_5'UTR|CCBL1_ENST00000302586.3_Missense_Mutation_p.L180V	p.L274V			Q16773	KAT1_HUMAN			8	969	-			180					Q5T275|Q8N191	Missense_Mutation	SNP	ENST00000302586.3	37	c.820C>G	CCDS43884.1	.	.	.	.	.	.	.	.	.	.	G	12.74	2.029187	0.35797	.	.	ENSG00000171097	ENST00000302586;ENST00000320665;ENST00000436267;ENST00000451800;ENST00000416084	D;D;D;D;D	0.90133	-2.62;-2.62;-2.62;-2.62;-2.62	5.36	3.34	0.38264	Aminotransferase, class I/classII (1);Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.128361	0.49305	D	0.000160	D	0.83487	0.5265	L	0.37697	1.125	0.47037	D	0.999297	P;P;B;B	0.43024	0.602;0.798;0.448;0.136	B;B;B;B	0.40101	0.315;0.319;0.238;0.159	T	0.81289	-0.1000	10	0.38643	T	0.18	-6.6517	7.5379	0.27721	0.089:0.0:0.6557:0.2553	.	274;130;180;180	B7Z4W5;Q16773-2;Q16773;Q5T278	.;.;KAT1_HUMAN;.	V	180;130;274;180;180	ENSP00000302227:L180V;ENSP00000317342:L130V;ENSP00000399415:L274V;ENSP00000390377:L180V;ENSP00000412402:L180V	ENSP00000302227:L180V	L	-	1	0	CCBL1	130639814	1.000000	0.71417	1.000000	0.80357	0.767000	0.43475	2.043000	0.41231	2.490000	0.84030	0.655000	0.94253	CTC		0.607	CCBL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054521.2			4	68	0	0	0	1	0	4	68					C	131599993	G	C	131599993	3	2	193	1	0	0	0	0	1	0	0	0	2732	1000	35	5	762	5	CCBL1	9	131599993	Missense_Mutation	SNP	G	TCGA-H9-A6BX-01A-31D-A30X-08		131599993	9613438	7	8980											
PRPF18	8559	broad.mit.edu	37	chr10	13642288	13642288	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaccattaacttcatcgaaTccagtgttagaacttgaact	15	12	5	9	1	1	2	1	1	0	1	3	3	2	2	2	0	4	1	2	0	6	4			TCGA-H9-A6BX-01A-31D-A30X-08	TCGA-H9-A6BX-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30eed465-db39-4e44-8663-e25e7d2dfe01	59d383d8-c1ee-4cf7-b802-0a75b257e576	g.chr10:13642288T>C	ENST00000378572.3	+	3	349	c.189T>C	c.(187-189)aaT>aaC	p.N63N		NM_003675.3	NP_003666.1	Q99633	PRP18_HUMAN	pre-mRNA processing factor 18	63					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	potassium channel inhibitor activity (GO:0019870)			central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(5)|prostate(1)	17						CTTCATCGAATCCAGTGTTAG	0.338																																						ENST00000378572.3																			0				central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(5)|prostate(1)	17						c.(187-189)aaT>aaC		pre-mRNA processing factor 18							108	105	106					10																	13642288		2203	4300	6503	SO:0001819	synonymous_variant	8559				mRNA processing|RNA splicing	nuclear speck|spliceosomal complex		g.chr10:13642288T>C	U51990	CCDS7100.1	10p12.33	2013-06-10	2013-06-10		ENSG00000165630	ENSG00000165630			17351	protein-coding gene	gene with protein product		604993	"PRP18 pre-mRNA processing factor 18 homolog (yeast)", "PRP18 pre-mRNA processing factor 18 homolog (S. cerevisiae)"			9000057	Standard	XM_005252634		Approved	hPrp18	uc001imp.3	Q99633	OTTHUMG00000017702	ENST00000378572.3:c.189T>C	10.37:g.13642288T>C							p.N63N	NM_003675.3	NP_003666.1	Q99633	PRP18_HUMAN			3	349	+			63					Q5T9P9|Q9BUI9	Silent	SNP	ENST00000378572.3	37	c.189T>C	CCDS7100.1																																																																																				0.338	PRPF18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046879.1			4	51	0	0	0	1	0	4	51					C	13642288	T	C	13642288	2	2	193	1	0	0	0	0	0	0	0	1	12563	1432	50	4		4	PRPF18	10	13642288	Silent	SNP	T	TCGA-H9-A6BX-01A-31D-A30X-08		13642288	121892459	8	8981											
CTBP2	1488	broad.mit.edu	37	chr10	126682486	126682486	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atcctgccctccttgagggcTtgtgctaaggctttctcgtc	4	14	10	13	1	1	1	0	1	1	0	5	1	3	1	3	2	2	3	3	2	1	4	rs76949963	byFrequency	TCGA-H9-A6BX-01A-31D-A30X-08	TCGA-H9-A6BX-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30eed465-db39-4e44-8663-e25e7d2dfe01	59d383d8-c1ee-4cf7-b802-0a75b257e576	g.chr10:126682486T>C	ENST00000337195.5	-	8	1248	c.849A>G	c.(847-849)caA>caG	p.Q283Q	CTBP2_ENST00000494626.2_Silent_p.Q283Q|CTBP2_ENST00000411419.2_Silent_p.Q283Q|CTBP2_ENST00000309035.6_Silent_p.Q823Q|CTBP2_ENST00000531469.1_Silent_p.Q283Q|CTBP2_ENST00000334808.6_Silent_p.Q351Q	NM_001329.2	NP_001320.1	P56545	CTBP2_HUMAN	C-terminal binding protein 2	283					negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)|viral genome replication (GO:0019079)|white fat cell differentiation (GO:0050872)	cell junction (GO:0030054)|nucleus (GO:0005634)|synapse (GO:0045202)|transcriptional repressor complex (GO:0017053)	NAD binding (GO:0051287)|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor (GO:0016616)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.173)		Colorectal(40;0.00572)|COAD - Colon adenocarcinoma(40;0.0127)|GBM - Glioblastoma multiforme(135;0.147)		CCTTGAGGGCTTGTGCTAAGG	0.617																																						ENST00000309035.6																			0				breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						c.(2467-2469)caA>caG		C-terminal binding protein 2							94	97	96					10																	126682486		2203	4300	6503	SO:0001819	synonymous_variant	1488				negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent|viral genome replication|white fat cell differentiation	cell junction|synapse|transcriptional repressor complex	NAD binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor|protein binding	g.chr10:126682486T>C	AF016507	CCDS7643.1, CCDS7644.1	10q26.13	2008-08-01			ENSG00000175029	ENSG00000175029			2495	protein-coding gene	gene with protein product		602619				9479502, 11864595	Standard	NM_022802		Approved	ribeye	uc001lie.4	P56545	OTTHUMG00000019224	ENST00000337195.5:c.849A>G	10.37:g.126682486T>C						CTBP2_ENST00000334808.6_Silent_p.Q351Q|CTBP2_ENST00000411419.2_Silent_p.Q283Q|CTBP2_ENST00000337195.5_Silent_p.Q283Q|CTBP2_ENST00000531469.1_Silent_p.Q283Q|CTBP2_ENST00000494626.2_Silent_p.Q283Q	p.Q823Q	NM_022802.2	NP_073713.2	P56545	CTBP2_HUMAN		Colorectal(40;0.00572)|COAD - Colon adenocarcinoma(40;0.0127)|GBM - Glioblastoma multiforme(135;0.147)	6	2599	-		all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.173)	283					A8K2X5|D3DRF5|O43449|Q5SQP7|Q69YI3|Q86SV0|Q9H2T8	Silent	SNP	ENST00000337195.5	37	c.2469A>G	CCDS7643.1																																																																																				0.617	CTBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050900.3	NM_001083914		5	194	0	0	0	1	0	5	194					C	126682486	T	C	126682486	2	2	193	1	0	0	0	0	0	0	0	1	3998	1606	56	4		4	CTBP2	10	126682486	Silent	SNP	T	TCGA-H9-A6BX-01A-31D-A30X-08	113040198	126682486	8852261	9	8982			1	21		2	2	31	N	T_G	1.162905e-05
CTBP2	1488	broad.mit.edu	37	chr10	126682516	126682516	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctttctcgtccaccaggccGccacgggctgcgttcacaag	6	8	11	16	4	2	0	1	0	1	0	4	0	3	0	4	2	1	3	4	2	1	2	rs185815738	byFrequency	TCGA-H9-A6BX-01A-31D-A30X-08	TCGA-H9-A6BX-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30eed465-db39-4e44-8663-e25e7d2dfe01	59d383d8-c1ee-4cf7-b802-0a75b257e576	g.chr10:126682516G>A	ENST00000337195.5	-	8	1218	c.819C>T	c.(817-819)ggC>ggT	p.G273G	CTBP2_ENST00000494626.2_Silent_p.G273G|CTBP2_ENST00000411419.2_Silent_p.G273G|CTBP2_ENST00000309035.6_Silent_p.G813G|CTBP2_ENST00000531469.1_Silent_p.G273G|CTBP2_ENST00000334808.6_Silent_p.G341G	NM_001329.2	NP_001320.1	P56545	CTBP2_HUMAN	C-terminal binding protein 2	273					negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)|viral genome replication (GO:0019079)|white fat cell differentiation (GO:0050872)	cell junction (GO:0030054)|nucleus (GO:0005634)|synapse (GO:0045202)|transcriptional repressor complex (GO:0017053)	NAD binding (GO:0051287)|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor (GO:0016616)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.173)		Colorectal(40;0.00572)|COAD - Colon adenocarcinoma(40;0.0127)|GBM - Glioblastoma multiforme(135;0.147)		CCACCAGGCCGCCACGGGCTG	0.582																																						ENST00000309035.6																			0				breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						c.(2437-2439)ggC>ggT		C-terminal binding protein 2							82	86	85					10																	126682516		2203	4300	6503	SO:0001819	synonymous_variant	1488				negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent|viral genome replication|white fat cell differentiation	cell junction|synapse|transcriptional repressor complex	NAD binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor|protein binding	g.chr10:126682516G>A	AF016507	CCDS7643.1, CCDS7644.1	10q26.13	2008-08-01			ENSG00000175029	ENSG00000175029			2495	protein-coding gene	gene with protein product		602619				9479502, 11864595	Standard	NM_022802		Approved	ribeye	uc001lie.4	P56545	OTTHUMG00000019224	ENST00000337195.5:c.819C>T	10.37:g.126682516G>A						CTBP2_ENST00000334808.6_Silent_p.G341G|CTBP2_ENST00000411419.2_Silent_p.G273G|CTBP2_ENST00000337195.5_Silent_p.G273G|CTBP2_ENST00000531469.1_Silent_p.G273G|CTBP2_ENST00000494626.2_Silent_p.G273G	p.G813G	NM_022802.2	NP_073713.2	P56545	CTBP2_HUMAN		Colorectal(40;0.00572)|COAD - Colon adenocarcinoma(40;0.0127)|GBM - Glioblastoma multiforme(135;0.147)	6	2569	-		all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.173)	273					A8K2X5|D3DRF5|O43449|Q5SQP7|Q69YI3|Q86SV0|Q9H2T8	Silent	SNP	ENST00000337195.5	37	c.2439C>T	CCDS7643.1																																																																																				0.582	CTBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050900.3	NM_001083914		5	167	0	0	0	1	0	5	167					A	126682516	G	A	126682516	2	1	193	1	0	0	0	0	0	0	0	1	3998	1074	38	1		1	CTBP2	10	126682516	Silent	SNP	G	TCGA-H9-A6BX-01A-31D-A30X-08	30	126682516	8852231	10	8983			1	21		2	2	31	N	T_G	1.162905e-05
AP2A2	161	broad.mit.edu	37	chr11	1003772	1003772	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgaaaaccagctgcttcaaaTtggacttaagtctgaatttc	13	13	7	8	0	2	2	1	2	1	0	3	3	2	3	1	1	3	2	1	1	5	4			TCGA-H9-A6BX-01A-31D-A30X-08	TCGA-H9-A6BX-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30eed465-db39-4e44-8663-e25e7d2dfe01	59d383d8-c1ee-4cf7-b802-0a75b257e576	g.chr11:1003772T>A	ENST00000448903.2	+	16	2315	c.2174T>A	c.(2173-2175)aTt>aAt	p.I725N	AP2A2_ENST00000332231.5_Missense_Mutation_p.I726N|AP2A2_ENST00000534328.1_Intron|AP2A2_ENST00000525891.1_3'UTR	NM_001242837.1|NM_012305.3	NP_001229766.1|NP_036437.1	O94973	AP2A2_HUMAN	adaptor-related protein complex 2, alpha 2 subunit	725					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon guidance (GO:0007411)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|intracellular protein transport (GO:0006886)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of defense response to virus by virus (GO:0050690)|synaptic transmission (GO:0007268)|viral process (GO:0016032)	clathrin adaptor complex (GO:0030131)|clathrin-coated endocytic vesicle membrane (GO:0030669)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)|protein kinase binding (GO:0019901)|protein transporter activity (GO:0008565)			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(2)	21		all_cancers(49;9.46e-06)|Breast(177;0.00257)|all_epithelial(84;0.0027)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.75e-24)|BRCA - Breast invasive adenocarcinoma(625;5.73e-05)|Lung(200;0.0696)|LUSC - Lung squamous cell carcinoma(625;0.082)		CTGCTTCAAATTGGACTTAAG	0.343																																						ENST00000448903.2																			0				breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(2)	21						c.(2173-2175)aTt>aAt		adaptor-related protein complex 2, alpha 2 subunit							109	98	102					11																	1003772		1834	4078	5912	SO:0001583	missense	161				axon guidance|endocytosis|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|viral reproduction	AP-2 adaptor complex|cytosol	lipid binding|protein transporter activity	g.chr11:1003772T>A	AB020706	CCDS44512.1, CCDS73234.1	11p15.5	2008-07-18			ENSG00000183020	ENSG00000183020			562	protein-coding gene	gene with protein product	"alpha-adaptin C; Huntingtin interacting protein J", "adaptin, alpha B", "clathrin-associated/assembly/adaptor protein, large, alpha 2"	607242		CLAPA2, ADTAB		9700202, 2564002	Standard	NM_012305		Approved	DKFZP564D1864, HYPJ, KIAA0899, HIP9	uc001lst.2	O94973	OTTHUMG00000165627	ENST00000448903.2:c.2174T>A	11.37:g.1003772T>A	ENSP00000413234:p.Ile725Asn					AP2A2_ENST00000534328.1_Intron|AP2A2_ENST00000525891.1_3'UTR|AP2A2_ENST00000332231.5_Missense_Mutation_p.I726N	p.I725N	NM_001242837.1|NM_012305.3	NP_001229766.1|NP_036437.1	O94973	AP2A2_HUMAN		all cancers(45;1.75e-24)|BRCA - Breast invasive adenocarcinoma(625;5.73e-05)|Lung(200;0.0696)|LUSC - Lung squamous cell carcinoma(625;0.082)	16	2315	+		all_cancers(49;9.46e-06)|Breast(177;0.00257)|all_epithelial(84;0.0027)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)	725					O75403|Q53ET1|Q96SI8	Missense_Mutation	SNP	ENST00000448903.2	37	c.2174T>A	CCDS44512.1	.	.	.	.	.	.	.	.	.	.	T	19.82	3.898098	0.72639	.	.	ENSG00000183020	ENST00000448903;ENST00000332231;ENST00000529125;ENST00000452310	T;T	0.63580	-0.05;-0.05	3.52	3.52	0.40303	Coatomer/clathrin adaptor appendage, Ig-like subdomain (1);Clathrin adaptor, alpha/beta/gamma-adaptin, appendage, Ig-like subdomain (2);Clathrin adaptor, alpha-adaptin, appendage, Ig-like subdomain (1);	0.121577	0.52532	D	0.000067	T	0.78426	0.4281	M	0.89968	3.075	0.80722	D	1	D;D	0.63880	0.985;0.993	P;P	0.58780	0.759;0.845	D	0.83722	0.0193	10	0.87932	D	0	-1.5572	12.5422	0.56177	0.0:0.0:0.0:1.0	.	726;725	O94973-2;O94973	.;AP2A2_HUMAN	N	725;726;462;465	ENSP00000413234:I725N;ENSP00000327694:I726N	ENSP00000327694:I726N	I	+	2	0	AP2A2	993772	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.437000	0.80417	1.627000	0.50400	0.472000	0.43445	ATT		0.343	AP2A2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000385431.2	NM_012305		3	20	0	0	0	1	0	3	20					A	1003772	T	A	1003772	3	1	193	1	0	0	0	0	1	0	0	0	740	1493	52	5	2236	5	AP2A2	11	1003772	Missense_Mutation	SNP	T	TCGA-H9-A6BX-01A-31D-A30X-08		1003772	134002744	11	8984											
RYR1	6261	broad.mit.edu	37	chr19	38949966	38949966	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cttccctgttgtcagcttctCggctggtgtcaagtgagaac	6	13	11	11	1	3	1	2	1	1	1	5	2	4	1	1	2	2	3	1	2	2	3			TCGA-H9-A6BX-01A-31D-A30X-08	TCGA-H9-A6BX-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30eed465-db39-4e44-8663-e25e7d2dfe01	59d383d8-c1ee-4cf7-b802-0a75b257e576	g.chr19:38949966C>T	ENST00000359596.3	+	19	2348	c.2348C>T	c.(2347-2349)tCg>tTg	p.S783L	RYR1_ENST00000360985.3_Missense_Mutation_p.S783L|RYR1_ENST00000355481.4_Missense_Mutation_p.S783L			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	783	B30.2/SPRY 1. {ECO:0000255|PROSITE- ProRule:PRU00548}.				calcium ion transport (GO:0006816)|cellular response to caffeine (GO:0071313)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|ossification involved in bone maturation (GO:0043931)|outflow tract morphogenesis (GO:0003151)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|skeletal muscle fiber development (GO:0048741)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|integral component of plasma membrane (GO:0005887)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|voltage-gated calcium channel activity (GO:0005245)			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	GTCAGCTTCTCGGCTGGTGTC	0.607																																						ENST00000355481.4																			0				NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285						c.(2347-2349)tCg>tTg		ryanodine receptor 1 (skeletal)	Dantrolene(DB01219)						83	70	74					19																	38949966		2203	4300	6503	SO:0001583	missense	6261				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr19:38949966C>T	J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"Ion channels / Ryanodine receptors"	10483	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 137"	180901	"central core disease of muscle"	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.2348C>T	19.37:g.38949966C>T	ENSP00000352608:p.Ser783Leu					RYR1_ENST00000359596.3_Missense_Mutation_p.S783L|RYR1_ENST00000360985.3_Missense_Mutation_p.S783L	p.S783L	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		19	2479	+	all_cancers(60;7.91e-06)		783			B30.2/SPRY 1.		Q16314|Q16368|Q9NPK1|Q9P1U4	Missense_Mutation	SNP	ENST00000359596.3	37	c.2348C>T	CCDS33011.1	.	.	.	.	.	.	.	.	.	.	c	18.10	3.549538	0.65311	.	.	ENSG00000196218	ENST00000359596;ENST00000355481;ENST00000360985	T;T;T	0.70045	-0.45;-0.45;-0.45	4.57	4.57	0.56435	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.000000	0.64402	U	0.000006	D	0.85017	0.5601	M	0.90759	3.145	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.97110	0.996;1.0	D	0.88699	0.3214	10	0.87932	D	0	.	17.1506	0.86777	0.0:1.0:0.0:0.0	.	783;783	P21817-2;P21817	.;RYR1_HUMAN	L	783	ENSP00000352608:S783L;ENSP00000347667:S783L;ENSP00000354254:S783L	ENSP00000347667:S783L	S	+	2	0	RYR1	43641806	1.000000	0.71417	0.939000	0.37840	0.881000	0.50899	7.651000	0.83577	2.363000	0.80096	0.457000	0.33378	TCG		0.607	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1			3	33	0	0	0	1	0	3	33					T	38949966	C	T	38949966	3	4	193	1	0	0	0	0	1	0	0	0	13768	893	31	2	2422	2	RYR1	19	38949966	Missense_Mutation	SNP	C	TCGA-H9-A6BX-01A-31D-A30X-08		38949966	20179017	12	8985											
GLI2	2736	broad.mit.edu	37	chr2	121746844	121746844	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gctgcggactccaacgtgggCccctccgcccctatgctggg	4	7	13	17	3	0	0	0	0	0	0	2	1	2	1	6	3	3	2	6	3	2	1			TCGA-H9-A6BY-01A-11D-A30E-08	TCGA-H9-A6BY-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e25c1b9-c691-44c5-bc32-85ddca3e1196	57d5137e-6a41-4e03-a279-e4ee1cf06472	g.chr2:121746844C>T	ENST00000452319.1	+	14	3414	c.3354C>T	c.(3352-3354)ggC>ggT	p.G1118G	GLI2_ENST00000361492.4_Silent_p.G1118G|GLI2_ENST00000314490.11_Silent_p.G790G					GLI family zinc finger 2											NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(3;0.0496)	Prostate(154;0.0623)				CCAACGTGGGCCCCTCCGCCC	0.622																																						ENST00000452319.1																			0				NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						c.(3352-3354)ggC>ggT		GLI family zinc finger 2							36	40	39					2																	121746844		2203	4300	6503	SO:0001819	synonymous_variant	2736				axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr2:121746844C>T		CCDS33283.1	2q14	2013-01-25	2009-03-05		ENSG00000074047	ENSG00000074047		"Zinc fingers, C2H2-type"	4318	protein-coding gene	gene with protein product	"tax-responsive element-2 holding protein", "tax helper protein 1", "tax helper protein 2"	165230	"GLI-Kruppel family member GLI2", "glioma-associated oncogene family zinc finger 2"			2850480, 9557682	Standard	NM_005270		Approved	THP2, HPE9, THP1	uc010flp.3	P10070	OTTHUMG00000153741	ENST00000452319.1:c.3354C>T	2.37:g.121746844C>T						GLI2_ENST00000361492.4_Silent_p.G1118G|GLI2_ENST00000314490.11_Silent_p.G790G	p.G1118G			P10070	GLI2_HUMAN			14	3414	+	Renal(3;0.0496)	Prostate(154;0.0623)	1118						Silent	SNP	ENST00000452319.1	37	c.3354C>T	CCDS33283.1																																																																																				0.622	GLI2-009	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332293.3	NM_005270		33	62	0	0	0	1	0	33	62					T	121746844	C	T	121746844	2	4	194	1	0	0	0	0	0	0	0	1	6438	726	26	3		3	GLI2	2	121746844	Silent	SNP	C	TCGA-H9-A6BY-01A-11D-A30E-08		121746844	121452529	1	8986											
CERKL	375298	broad.mit.edu	37	chr2	182468750	182468751	+	Frame_Shift_Del	DEL	AT	AT	-																															ccgtttcagtttcacagagaAtatgtctttgagttcaataa																										TCGA-H9-A6BY-01A-11D-A30E-08	TCGA-H9-A6BY-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e25c1b9-c691-44c5-bc32-85ddca3e1196	57d5137e-6a41-4e03-a279-e4ee1cf06472	g.chr2:182468750_182468751delAT	ENST00000339098.5	-	2	293_294	c.294_295delAT	c.(292-297)atattcfs	p.F99fs	CERKL_ENST00000479558.1_5'UTR|CERKL_ENST00000374970.2_Frame_Shift_Del_p.F99fs|CERKL_ENST00000409440.3_Frame_Shift_Del_p.F99fs|CERKL_ENST00000374969.2_Frame_Shift_Del_p.F99fs|CERKL_ENST00000410087.3_Frame_Shift_Del_p.F99fs			Q49MI3	CERKL_HUMAN	ceramide kinase-like	99					negative regulation of apoptotic process (GO:0043066)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleus (GO:0005634)	diacylglycerol kinase activity (GO:0004143)|NAD+ kinase activity (GO:0003951)			NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(13)|ovary(3)|skin(3)	32			OV - Ovarian serous cystadenocarcinoma(117;0.088)			TTCACAGAGAATATGTCTTTGA	0.307																																						ENST00000410087.3																			0				NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(13)|ovary(3)|skin(3)	32						c.(292-297)attcfs		ceramide kinase-like																																				SO:0001589	frameshift_variant	0				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis	endoplasmic reticulum|Golgi apparatus|nucleolus	diacylglycerol kinase activity	g.chr2:182468750_182468751delAT	BC020465	CCDS33340.1, CCDS33341.1, CCDS42789.1, CCDS46466.1, CCDS54425.1	2q31.3	2005-01-04			ENSG00000188452	ENSG00000188452			21699	protein-coding gene	gene with protein product			"retinitis pigmentosa 26 (autosomal recessive)"	RP26		14681825	Standard	NR_027689		Approved		uc002uny.3	Q49MI3	OTTHUMG00000154315	ENST00000339098.5:c.294_295delAT	2.37:g.182468752_182468753delAT	ENSP00000341159:p.Phe99fs					CERKL_ENST00000479558.1_5'UTR|CERKL_ENST00000409440.3_Frame_Shift_Del_p.IF98fs|CERKL_ENST00000374969.2_Frame_Shift_Del_p.IF98fs|CERKL_ENST00000374970.2_Frame_Shift_Del_p.IF98fs|CERKL_ENST00000339098.5_Frame_Shift_Del_p.IF98fs	p.IF98fs	NM_001030311.2|NM_201548.4	NP_001025482.1|NP_963842.1	Q49MI3	CERKL_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.088)		2	394_395	-			98					B2RPL2|B4DEY1|Q49MH9|Q49MI0|Q49MI1|Q49MI2|Q5DVJ2|Q5DVJ4|Q5DVJ5|Q6UZF6|Q6ZP59	Frame_Shift_Del	DEL	ENST00000339098.5	37	c.294_295delAT	CCDS42789.1																																																																																				0.307	CERKL-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334811.1			19	34						19	34	---	---	---	---	-	182468751	AT	-	182468750	7	5	194	1	0	1	0	1	0	0	0	0	3268	101	4	0	1433	0	CERKL	2	182468750	Frame_Shift_Del	DEL	AT	TCGA-H9-A6BY-01A-11D-A30E-08	60721906	182468750	60730623	2	8987											
ABCA12	26154	broad.mit.edu	37	chr2	215843155	215843156	+	Frame_Shift_Ins	INS	-	-	T																															gctcaagactcatagcactaINStttttttgtgactctttggt																								rs387906285		TCGA-H9-A6BY-01A-11D-A30E-08	TCGA-H9-A6BY-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e25c1b9-c691-44c5-bc32-85ddca3e1196	57d5137e-6a41-4e03-a279-e4ee1cf06472	g.chr2:215843155_215843156insT	ENST00000272895.7	-	33	5231_5232	c.5012_5013insA	c.(5011-5013)aatfs	p.N1671fs	ABCA12_ENST00000389661.4_Frame_Shift_Ins_p.N1353fs	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	1671					cellular homeostasis (GO:0019725)|ceramide transport (GO:0035627)|establishment of skin barrier (GO:0061436)|keratinization (GO:0031424)|lipid homeostasis (GO:0055088)|lipid transport (GO:0006869)|lung alveolus development (GO:0048286)|phospholipid efflux (GO:0033700)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of protein localization to cell surface (GO:2000010)|protein localization to plasma membrane (GO:0072659)|regulated secretory pathway (GO:0045055)|secretion by cell (GO:0032940)|surfactant homeostasis (GO:0043129)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|epidermal lamellar body (GO:0097209)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)	apolipoprotein A-I receptor binding (GO:0034191)|ATP binding (GO:0005524)|lipid transporter activity (GO:0005319)|lipid-transporting ATPase activity (GO:0034040)|receptor binding (GO:0005102)			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		TCATAGCACTATTTTTTTGTGA	0.376																																					Ovarian(66;664 1488 5121 34295)	ENST00000272895.7																			0				NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139	GRCh37	CD051281	ABCA12	D		c.(5011-5013)aagfs		ATP-binding cassette, sub-family A (ABC1), member 12																																				SO:0001589	frameshift_variant	26154				cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity	g.chr2:215843155_215843156insT	AF418105	CCDS33372.1, CCDS33373.1	2q34	2012-03-14			ENSG00000144452	ENSG00000144452		"ATP binding cassette transporters / subfamily A"	14637	protein-coding gene	gene with protein product		607800	"ichthyosis congenita II, lamellar ichthyosis B"	ICR2B		11435397, 12915478, 8845852, 10094194	Standard	NM_015657		Approved	DKFZP434G232, LI2	uc002vew.3	Q86UK0	OTTHUMG00000154801	ENST00000272895.7:c.5013dupA	2.37:g.215843162_215843162dupT	ENSP00000272895:p.Asn1671fs					ABCA12_ENST00000389661.4_Frame_Shift_Ins_p.K1353fs	p.K1671fs	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)	33	5231_5232	-		Renal(323;0.127)	1671					Q53QE2|Q53S55|Q8IZW6|Q96JT3|Q9Y4M5	Frame_Shift_Ins	INS	ENST00000272895.7	37	c.5012_5013insA	CCDS33372.1																																																																																				0.376	ABCA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337111.1	NM_173076		7	23						7	23	---	---	---	---	T	215843156	-	T	215843155	7	5	194	1	0	1	1	0	0	0	0	0	30	446	16	0	2858	0	ABCA12	2	215843155	Frame_Shift_Ins	INS	-	TCGA-H9-A6BY-01A-11D-A30E-08	33374405	215843155	27356218	3	8988											
KIF1A	547	broad.mit.edu	37	chr2	241725859	241725859	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcagtgggtgctccctcacGcgaaggttgcccttgttctt	5	12	12	12	2	2	0	1	0	1	0	3	1	3	0	2	2	3	4	2	2	1	4			TCGA-H9-A6BY-01A-11D-A30E-08	TCGA-H9-A6BY-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e25c1b9-c691-44c5-bc32-85ddca3e1196	57d5137e-6a41-4e03-a279-e4ee1cf06472	g.chr2:241725859G>A	ENST00000320389.7	-	6	659	c.501C>T	c.(499-501)cgC>cgT	p.R167R	KIF1A_ENST00000498729.2_Silent_p.R167R	NM_004321.6	NP_004312.2	Q12756	KIF1A_HUMAN	kinesin family member 1A	167	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				anterograde axon cargo transport (GO:0008089)|ATP catabolic process (GO:0006200)|cell death (GO:0008219)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|motor activity (GO:0003774)|plus-end-directed microtubule motor activity (GO:0008574)			NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)		GCTCCCTCACGCGAAGGTTGC	0.602																																						ENST00000498729.2																			0				NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66						c.(499-501)cgC>cgT		kinesin family member 1A							122	129	127					2																	241725859		2111	4248	6359	SO:0001819	synonymous_variant	547				anterograde axon cargo transport	cytoplasm|microtubule|nucleus	ATP binding|microtubule motor activity	g.chr2:241725859G>A	AF004425	CCDS46561.1, CCDS58757.1	2q37.2	2014-09-17	2004-01-09	2004-01-14	ENSG00000130294	ENSG00000130294		"Kinesins", "Pleckstrin homology (PH) domain containing"	888	protein-coding gene	gene with protein product		601255	"axonal transport of synaptic vesicles", "chromosome 2 open reading frame 20", "spastic paraplegia 30 (autosomal recessive)"	ATSV, C2orf20, SPG30		7539720, 10323250, 22258533	Standard	NM_001244008		Approved	UNC104	uc010fzk.3	Q12756	OTTHUMG00000151940	ENST00000320389.7:c.501C>T	2.37:g.241725859G>A						KIF1A_ENST00000320389.7_Silent_p.R167R	p.R167R	NM_001244008.1	NP_001230937.1	Q12756	KIF1A_HUMAN		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)	6	747	-		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)	167			Kinesin-motor.		B0I1S5|F5H045|O95068|Q13355|Q14752|Q2NKJ6|Q4LE42|Q53T78|Q59GH1|Q63Z40|Q6P1R9|Q7KZ57	Silent	SNP	ENST00000320389.7	37	c.501C>T	CCDS46561.1																																																																																				0.602	KIF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324536.3	NM_138483		62	94	0	0	0	1	0	62	94					A	241725859	G	A	241725859	2	1	194	1	0	0	0	0	0	0	0	1	8283	1074	38	1		1	KIF1A	2	241725859	Silent	SNP	G	TCGA-H9-A6BY-01A-11D-A30E-08	25882704	241725859	1473514	4	8989											
DNAH1	25981	broad.mit.edu	37	chr3	52383437	52383437	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgcataaggaggtggatagcGtaagtgcccacctgccccgc	9	7	13	12	2	0	0	0	0	0	0	0	2	0	2	4	3	4	2	4	3	3	3			TCGA-H9-A6BY-01A-11D-A30E-08	TCGA-H9-A6BY-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e25c1b9-c691-44c5-bc32-85ddca3e1196	57d5137e-6a41-4e03-a279-e4ee1cf06472	g.chr3:52383437G>A	ENST00000420323.2	+	14	2787		c.e14+1			NM_015512.4	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1						cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|response to mechanical stimulus (GO:0009612)	axonemal dynein complex (GO:0005858)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		GGTGGATAGCGTAAGTGCCCA	0.582																																						ENST00000420323.2																			0				cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62						c.e14+1		dynein, axonemal, heavy chain 1							43	48	47					3																	52383437		2176	4274	6450	SO:0001630	splice_region_variant	25981				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr3:52383437G>A	U61738	CCDS46842.1	3p21-p14	2008-02-05	2006-09-04		ENSG00000114841	ENSG00000114841		"Axonemal dyneins"	2940	protein-coding gene	gene with protein product		603332	"dynein, axonemal, heavy polypeptide 1"			8812413, 9256245	Standard	NM_015512		Approved	XLHSRF-1, DNAHC1, HDHC7, HL-11, HL11	uc011bef.2	Q9P2D7	OTTHUMG00000158378	ENST00000420323.2:c.2526+1G>A	3.37:g.52383437G>A								NM_015512.4	NP_056327.4	Q9P2D7	DYH1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	14	2787	+								B0I1R6|O00436|O15435|O95491|Q6ZU48|Q86YK7|Q8TEJ4|Q92863|Q9H8E6|Q9UFW6|Q9Y4Z7	Splice_Site	SNP	ENST00000420323.2	37		CCDS46842.1	.	.	.	.	.	.	.	.	.	.	G	18.41	3.617771	0.66787	.	.	ENSG00000114841	ENST00000420323	.	.	.	5.45	5.45	0.79879	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.2863	0.94072	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	DNAH1	52358477	1.000000	0.71417	0.388000	0.26195	0.094000	0.18550	8.769000	0.91742	2.569000	0.86673	0.655000	0.94253	.		0.582	DNAH1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350816.1	NM_015512	Intron	3	35	0	0	0	1	0	3	35					A	52383437	G	A	52383437	5	1	194	1	0	0	0	0	0	0	1	0	4597	1159	40	1	2577	1	DNAH1	3	52383437	Splice_Site	SNP	G	TCGA-H9-A6BY-01A-11D-A30E-08		52383437	145638993	5	8990											
ABCG2	9429	broad.mit.edu	37	chr4	89013441	89013441	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aggcaattgtgaggaaaataAcaatcatacaagccaaggcc	18	6	9	8	0	1	1	1	1	0	0	1	2	1	2	2	3	3	1	2	3	8	3			TCGA-H9-A6BY-01A-11D-A30E-08	TCGA-H9-A6BY-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e25c1b9-c691-44c5-bc32-85ddca3e1196	57d5137e-6a41-4e03-a279-e4ee1cf06472	g.chr4:89013441A>G	ENST00000237612.3	-	16	2458	c.1913T>C	c.(1912-1914)gTt>gCt	p.V638A	ABCG2_ENST00000515655.1_3'UTR	NM_004827.2	NP_004818.2	Q9UNQ0	ABCG2_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 2 (Junior blood group)	638	ABC transmembrane type-2.				cellular iron ion homeostasis (GO:0006879)|drug export (GO:0046618)|drug transmembrane transport (GO:0006855)|embryonic process involved in female pregnancy (GO:0060136)|heme transport (GO:0015886)|response to drug (GO:0042493)|response to folic acid (GO:0051593)|response to glucocorticoid (GO:0051384)|response to iron ion (GO:0010039)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)|urate metabolic process (GO:0046415)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|heme transporter activity (GO:0015232)|protein homodimerization activity (GO:0042803)|transporter activity (GO:0005215)|xenobiotic-transporting ATPase activity (GO:0008559)			breast(5)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(13)|lung(10)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	42		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;7.02e-05)	Afatinib(DB08916)|Apixaban(DB06605)|Buprenorphine(DB00921)|Cabazitaxel(DB06772)|Carboplatin(DB00958)|Cisplatin(DB00515)|Cladribine(DB00242)|Clofarabine(DB00631)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Dabrafenib(DB08912)|Dactinomycin(DB00970)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Dexamethasone(DB01234)|Diethylstilbestrol(DB00255)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Dronabinol(DB00470)|Erlotinib(DB00530)|Estradiol(DB00783)|Estrone(DB00655)|Etoposide(DB00773)|Ezetimibe(DB00973)|Fluorouracil(DB00544)|Folic Acid(DB00158)|Gefitinib(DB00317)|Glyburide(DB01016)|Hesperetin(DB01094)|Hydrocortisone(DB00741)|Imatinib(DB00619)|Irinotecan(DB00762)|Ivermectin(DB00602)|Lamivudine(DB00709)|Lansoprazole(DB00448)|Leflunomide(DB01097)|Methotrexate(DB00563)|Mitoxantrone(DB01204)|Mycophenolate mofetil(DB00688)|Nelfinavir(DB00220)|Nilotinib(DB04868)|Nitrofurantoin(DB00698)|Novobiocin(DB01051)|Omeprazole(DB00338)|Oxaliplatin(DB00526)|Paclitaxel(DB01229)|Pantoprazole(DB00213)|Pazopanib(DB06589)|Pitavastatin(DB08860)|Ponatinib(DB08901)|Pravastatin(DB00175)|Prazosin(DB00457)|Rabeprazole(DB01129)|Regorafenib(DB08896)|Rilpivirine(DB08864)|Riluzole(DB00740)|Ritonavir(DB00503)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Sorafenib(DB00398)|Sulfasalazine(DB00795)|Sumatriptan(DB00669)|Sunitinib(DB01268)|Tamoxifen(DB00675)|Telmisartan(DB00966)|Teniposide(DB00444)|Teriflunomide(DB08880)|Testosterone(DB00624)|Topotecan(DB01030)|Vandetanib(DB05294)|Vemurafenib(DB08881)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vincristine(DB00541)|Vismodegib(DB08828)|Zafirlukast(DB00549)|Zidovudine(DB00495)	GAGGAAAATAACAATCATACA	0.363																																						ENST00000237612.3																			0				breast(5)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(13)|lung(10)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	42						c.(1912-1914)gTt>gCt		ATP-binding cassette, sub-family G (WHITE), member 2	Imatinib(DB00619)|Mitoxantrone(DB01204)|Nicardipine(DB00622)|Nitrendipine(DB01054)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Topotecan(DB01030)						94	89	90					4																	89013441		2203	4300	6503	SO:0001583	missense	9429				cellular iron ion homeostasis|urate metabolic process	integral to membrane|plasma membrane	ATP binding|heme transporter activity|protein homodimerization activity|xenobiotic-transporting ATPase activity	g.chr4:89013441A>G	AF103796	CCDS3628.1, CCDS58910.1	4q22.1	2014-08-27	2014-08-27		ENSG00000118777	ENSG00000118777		"CD molecules", "ATP binding cassette transporters / subfamily G"	74	protein-coding gene	gene with protein product		603756	"ATP-binding cassette, sub-family G (WHITE), member 2"			8894702, 9861027	Standard	NM_001257386		Approved	EST157481, MXR, BCRP, ABCP, CD338	uc003hrg.3	Q9UNQ0	OTTHUMG00000130601	ENST00000237612.3:c.1913T>C	4.37:g.89013441A>G	ENSP00000237612:p.Val638Ala					ABCG2_ENST00000515655.1_3'UTR	p.V638A	NM_004827.2	NP_004818.2	Q9UNQ0	ABCG2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;7.02e-05)	16	2458	-		Hepatocellular(203;0.114)	638			ABC transmembrane type-2.		A0A1W3|A8K1T5|O95374|Q4W5I3|Q53ZQ1|Q569L4|Q5YLG4|Q86V64|Q8IX16|Q96LD6|Q96TA8|Q9BY73|Q9NUS0	Missense_Mutation	SNP	ENST00000237612.3	37	c.1913T>C	CCDS3628.1	.	.	.	.	.	.	.	.	.	.	A	14.28	2.488693	0.44249	.	.	ENSG00000118777	ENST00000237612	D	0.86769	-2.17	5.55	5.55	0.83447	.	0.453441	0.24461	N	0.038323	T	0.82111	0.4966	L	0.42632	1.34	0.09310	N	0.999999	B	0.09022	0.002	B	0.13407	0.009	T	0.73525	-0.3955	10	0.62326	D	0.03	-19.5139	9.8494	0.41048	0.9229:0.0:0.0771:0.0	.	638	Q9UNQ0	ABCG2_HUMAN	A	638	ENSP00000237612:V638A	ENSP00000237612:V638A	V	-	2	0	ABCG2	89232465	0.850000	0.29656	0.603000	0.28903	0.794000	0.44872	6.067000	0.71193	2.105000	0.64084	0.383000	0.25322	GTT		0.363	ABCG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253051.1	NM_004827		22	45	0	0	0	1	0	22	45					G	89013441	A	G	89013441	3	3	194	1	0	0	0	0	1	0	0	0	69	43	2	4	58	4	ABCG2	4	89013441	Missense_Mutation	SNP	A	TCGA-H9-A6BY-01A-11D-A30E-08		89013441	102140835	6	8991											
FAT4	79633	broad.mit.edu	37	chr4	126328050	126328050	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttagggtgcaaatgctctcGtcacatacactatcattagt	11	14	7	9	1	3	0	2	0	1	0	4	0	3	0	0	1	3	2	0	1	5	5	rs547537537		TCGA-H9-A6BY-01A-11D-A30E-08	TCGA-H9-A6BY-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e25c1b9-c691-44c5-bc32-85ddca3e1196	57d5137e-6a41-4e03-a279-e4ee1cf06472	g.chr4:126328050G>A	ENST00000394329.3	+	3	5336	c.5323G>A	c.(5323-5325)Gtc>Atc	p.V1775I	FAT4_ENST00000335110.5_Missense_Mutation_p.V73I	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	1775	Cadherin 17. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						AAATGCTCTCGTCACATACAC	0.433													G|||	1	0.000199681	0	0	5008	,	,		18403	0		0	False		,,,				2504	0.001					ENST00000394329.3																			0				NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						c.(5323-5325)Gtc>Atc		FAT atypical cadherin 4							106	104	104					4																	126328050		2203	4300	6503	SO:0001583	missense	79633				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:126328050G>A	AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"Cadherins / Cadherin-related"	23109	protein-coding gene	gene with protein product	"cadherin-related family member 11"	612411	"FAT tumor suppressor homolog 4 (Drosophila)"			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.5323G>A	4.37:g.126328050G>A	ENSP00000377862:p.Val1775Ile					FAT4_ENST00000335110.5_Missense_Mutation_p.V73I	p.V1775I	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN			3	5336	+			1775			Cadherin 17.		A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Missense_Mutation	SNP	ENST00000394329.3	37	c.5323G>A	CCDS3732.3	.	.	.	.	.	.	.	.	.	.	G	17.41	3.383559	0.61845	.	.	ENSG00000196159	ENST00000394329;ENST00000335110	T;T	0.02787	4.16;4.16	5.28	5.28	0.74379	Cadherin (4);Cadherin-like (1);	0.000000	0.31246	U	0.007984	T	0.07548	0.0190	N	0.17474	0.49	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.79108	0.955;0.992	T	0.58171	-0.7683	10	0.27082	T	0.32	.	19.2767	0.94034	0.0:0.0:1.0:0.0	.	73;1775	Q6V0I7-2;Q6V0I7	.;FAT4_HUMAN	I	1775;73	ENSP00000377862:V1775I;ENSP00000335169:V73I	ENSP00000335169:V73I	V	+	1	0	FAT4	126547500	1.000000	0.71417	0.959000	0.39883	0.798000	0.45092	9.611000	0.98342	2.622000	0.88805	0.585000	0.79938	GTC		0.433	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582		17	127	0	0	0	1	0	17	127					A	126328050	G	A	126328050	3	1	194	1	0	0	0	0	1	0	0	0	5692	1145	40	1	5333	1	FAT4	4	126328050	Missense_Mutation	SNP	G	TCGA-H9-A6BY-01A-11D-A30E-08	37314609	126328050	64826226	7	8992											
CDC20B	166979	broad.mit.edu	37	chr5	54410070	54410070	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tagcaattccatacagaggcCgtcccatcagctgcagcaga	12	7	9	13	1	1	2	1	0	0	2	3	2	3	2	3	1	5	4	3	1	3	3			TCGA-H9-A6BY-01A-11D-A30E-08	TCGA-H9-A6BY-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e25c1b9-c691-44c5-bc32-85ddca3e1196	57d5137e-6a41-4e03-a279-e4ee1cf06472	g.chr5:54410070C>T	ENST00000381375.2	-	12	1681	c.1536G>A	c.(1534-1536)acG>acA	p.T512T	CDC20B_ENST00000334206.5_3'UTR|CDC20B_ENST00000296733.1_Silent_p.T508T|CDC20B_ENST00000322374.6_Silent_p.T470T			Q86Y33	CD20B_HUMAN	cell division cycle 20B	512										kidney(1)|large_intestine(5)|lung(7)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	19		Lung NSC(810;0.000744)|Breast(144;0.159)|Prostate(74;0.194)	LUSC - Lung squamous cell carcinoma(15;0.225)			atacagaggccgtcccatcag	0.527																																						ENST00000296733.1																			0				kidney(1)|large_intestine(5)|lung(7)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	19						c.(1522-1524)acG>acA		cell division cycle 20B							82	75	77					5																	54410070		2203	4300	6503	SO:0001819	synonymous_variant	166979							g.chr5:54410070C>T	AB086378	CCDS3966.1, CCDS47207.1, CCDS54852.1	5q11.2	2013-01-17	2013-01-17		ENSG00000164287	ENSG00000164287		"WD repeat domain containing"	24222	protein-coding gene	gene with protein product			"CDC20 cell division cycle 20 homolog B (S. cerevisiae)", "cell division cycle 20 homolog B (S. cerevisiae)"				Standard	NM_152623		Approved	FLJ37927	uc003jpo.2	Q86Y33	OTTHUMG00000131185	ENST00000381375.2:c.1536G>A	5.37:g.54410070C>T						CDC20B_ENST00000322374.6_Silent_p.T470T|CDC20B_ENST00000334206.5_3'UTR|CDC20B_ENST00000381375.2_Silent_p.T512T	p.T508T	NM_001170402.1|NM_152623.2	NP_001163873.1|NP_689836.2	Q86Y33	CD20B_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.225)		12	1698	-		Lung NSC(810;0.000744)|Breast(144;0.159)|Prostate(74;0.194)	512					B7WNV8|B9EGL8|C9J6X8|C9JHE9|C9JKL5|Q86Y31|Q86Y32|Q8IUZ8|Q8N1S1|Q8NG56	Silent	SNP	ENST00000381375.2	37	c.1524G>A	CCDS54852.1																																																																																				0.527	CDC20B-004	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000369715.1	NM_152623		26	57	0	0	0	1	0	26	57					T	54410070	C	T	54410070	2	4	194	1	0	0	0	0	0	0	0	1	3060	639	23	2		2	CDC20B	5	54410070	Silent	SNP	C	TCGA-H9-A6BY-01A-11D-A30E-08		54410070	126505190	8	8993											
CYFIP2	26999	broad.mit.edu	37	chr5	156786061	156786061	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acagctcctacaggaatttcGtggggccacctcatttcaag	10	10	9	12	1	2	0	2	0	0	0	4	1	3	1	3	3	2	1	3	3	3	3			TCGA-H9-A6BY-01A-11D-A30E-08	TCGA-H9-A6BY-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e25c1b9-c691-44c5-bc32-85ddca3e1196	57d5137e-6a41-4e03-a279-e4ee1cf06472	g.chr5:156786061G>A	ENST00000521420.1	+	23	2735	c.2644G>A	c.(2644-2646)Gtg>Atg	p.V882M	CYFIP2_ENST00000541131.1_Missense_Mutation_p.V833M|CYFIP2_ENST00000435847.2_Missense_Mutation_p.V607M|CYFIP2_ENST00000347377.6_Missense_Mutation_p.V908M|CYFIP2_ENST00000442283.2_Missense_Mutation_p.R192H|CYFIP2_ENST00000522463.1_Missense_Mutation_p.V712M|CYFIP2_ENST00000377576.3_Missense_Mutation_p.V908M|CYFIP2_ENST00000318218.6_Missense_Mutation_p.V933M					cytoplasmic FMR1 interacting protein 2											breast(1)|endometrium(12)|kidney(2)|lung(23)	38	Renal(175;0.00212)	Medulloblastoma(196;0.0306)|all_neural(177;0.0897)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CAGGAATTTCGTGGGGCCACC	0.488																																						ENST00000347377.6																			0				breast(1)|endometrium(12)|kidney(2)|lung(23)	38						c.(2722-2724)Gtg>Atg		cytoplasmic FMR1 interacting protein 2							185	189	187					5																	156786061		2003	4169	6172	SO:0001583	missense	26999				apoptosis|cell-cell adhesion	cell junction|perinuclear region of cytoplasm|synapse|synaptosome	protein binding	g.chr5:156786061G>A	AF160973	CCDS75364.1	5q34	2008-07-18				ENSG00000055163			13760	protein-coding gene	gene with protein product	"p53 inducible protein"	606323				11438699	Standard	NM_001037333		Approved	PIR121	uc021ygm.1	Q96F07		ENST00000521420.1:c.2644G>A	5.37:g.156786061G>A	ENSP00000430904:p.Val882Met					CYFIP2_ENST00000541131.1_Missense_Mutation_p.V833M|CYFIP2_ENST00000435847.2_Missense_Mutation_p.V607M|CYFIP2_ENST00000318218.6_Missense_Mutation_p.V933M|CYFIP2_ENST00000377576.3_Missense_Mutation_p.V908M|CYFIP2_ENST00000522463.1_Missense_Mutation_p.V712M|CYFIP2_ENST00000442283.2_Missense_Mutation_p.R192H|CYFIP2_ENST00000521420.1_Missense_Mutation_p.V882M	p.V908M	NM_001037332.2	NP_001032409.2	Q96F07	CYFP2_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		24	3153	+	Renal(175;0.00212)	Medulloblastoma(196;0.0306)|all_neural(177;0.0897)	933						Missense_Mutation	SNP	ENST00000521420.1	37	c.2722G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	25.1|25.1	4.605090|4.605090	0.87157|0.87157	.|.	.|.	ENSG00000055163|ENSG00000055163	ENST00000442283|ENST00000318218;ENST00000522463;ENST00000521420;ENST00000347377;ENST00000377576;ENST00000541131;ENST00000435847	T|T;T;T;T;T;T;T	0.21734|0.29142	1.99|1.58;1.58;1.58;1.58;1.58;1.58;1.58	5.28|5.28	5.28|5.28	0.74379|0.74379	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.47078|0.47078	0.1426|0.1426	M|M	0.82323|0.82323	2.585|2.585	0.30857|0.30857	N|N	0.733939|0.733939	.|P;P;P;D;P;P	.|0.53462	.|0.705;0.821;0.707;0.96;0.949;0.943	.|B;P;B;B;B;B	.|0.46208	.|0.206;0.507;0.426;0.354;0.408;0.212	T|T	0.61023|0.61023	-0.7146|-0.7146	7|10	0.87932|0.62326	D|D	0|0.03	-29.3084|-29.3084	18.9394|18.9394	0.92600|0.92600	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|772;712;882;908;908;933	.|A8MUM2;E7EW33;E7EVJ5;E7EVF4;Q96F07-2;Q96F07	.|.;.;.;.;.;CYFP2_HUMAN	H|M	192|933;712;882;908;908;833;607	ENSP00000390948:R192H|ENSP00000325817:V933M;ENSP00000428009:V712M;ENSP00000430904:V882M;ENSP00000313567:V908M;ENSP00000366799:V908M;ENSP00000444645:V833M;ENSP00000403793:V607M	ENSP00000390948:R192H|ENSP00000325817:V933M	R|V	+|+	2|1	0|0	CYFIP2|CYFIP2	156718639|156718639	1.000000|1.000000	0.71417|0.71417	0.995000|0.995000	0.50966|0.50966	0.913000|0.913000	0.54294|0.54294	6.589000|6.589000	0.74080|0.74080	2.455000|2.455000	0.83008|0.83008	0.655000|0.655000	0.94253|0.94253	CGT|GTG		0.488	CYFIP2-001	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000373710.1	NM_001037332		6	280	0	0	0	1	0	6	280					A	156786061	G	A	156786061	3	1	194	1	0	0	0	0	1	0	0	0	4138	1145	40	1	2812	1	CYFIP2	5	156786061	Missense_Mutation	SNP	G	TCGA-H9-A6BY-01A-11D-A30E-08	102375991	156786061	24129199	9	8994											
C6orf174	387104	broad.mit.edu	37	chr6	127796912	127796912	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttcttgcccgcgtcgctctcGgcgtcgctgtcgcgggggct	0	11	15	15	8	2	0	0	0	2	0	6	0	2	0	1	3	1	3	1	3	0	2			TCGA-H9-A6BY-01A-11D-A30E-08	TCGA-H9-A6BY-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e25c1b9-c691-44c5-bc32-85ddca3e1196	57d5137e-6a41-4e03-a279-e4ee1cf06472	g.chr6:127796912G>A	ENST00000525778.1	-	6	3004	c.2259C>T	c.(2257-2259)gcC>gcT	p.A753A	SOGA3_ENST00000556132.1_Silent_p.A753A|SOGA3_ENST00000368268.2_Silent_p.A753A|SOGA3_ENST00000465909.2_Silent_p.A753A|SOGA3_ENST00000474293.2_5'Flank|SOGA3_ENST00000481848.2_Silent_p.A753A			Q5TF21	SOGA3_HUMAN	SOGA family member 3	753					regulation of autophagy (GO:0010506)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)											CGTCGCTCTCGGCGTCGCTGT	0.697																																						ENST00000556132.1																			0											c.(2257-2259)gcC>gcT		SOGA family member 3							42	49	46					6																	127796912		2125	4242	6367	SO:0001819	synonymous_variant	387104					integral to membrane		g.chr6:127796912G>A	AK096490	CCDS43505.1	6q22.33	2013-03-28	2012-02-27	2012-02-27	ENSG00000214338	ENSG00000214338			21494	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 174"	C6orf174			Standard	NM_001012279		Approved	dJ403A15.3	uc003qbd.3	Q5TF21	OTTHUMG00000166438	ENST00000525778.1:c.2259C>T	6.37:g.127796912G>A						SOGA3_ENST00000481848.2_Silent_p.A753A|SOGA3_ENST00000525778.1_Silent_p.A753A|SOGA3_ENST00000465909.2_Silent_p.A753A|SOGA3_ENST00000368268.2_Silent_p.A753A	p.A753A	NM_001012279.2	NP_001012279.1	Q5TF21	CF174_HUMAN			6	3123	-			753						Silent	SNP	ENST00000525778.1	37	c.2259C>T	CCDS43505.1																																																																																				0.697	SOGA3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388246.1	NM_001012279		7	132	0	0	0	1	0	7	132					A	127796912	G	A	127796912	2	1	194	1	0	0	0	0	0	0	0	1	2345	1103	39	2		2	C6orf174	6	127796912	Silent	SNP	G	TCGA-H9-A6BY-01A-11D-A30E-08		127796912	43318155	10	8995											
SAMD3	154075	broad.mit.edu	37	chr6	130535491	130535491	+	Frame_Shift_Del	DEL	G	G	-																															aacatactcactctcgagctGcttctgtttgcatgaccagg																										TCGA-H9-A6BY-01A-11D-A30E-08	TCGA-H9-A6BY-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e25c1b9-c691-44c5-bc32-85ddca3e1196	57d5137e-6a41-4e03-a279-e4ee1cf06472	g.chr6:130535491delG	ENST00000368134.2	-	6	868	c.260delC	c.(259-261)gcafs	p.A88fs	SAMD3_ENST00000439090.2_Frame_Shift_Del_p.A88fs|SAMD3_ENST00000324172.6_Frame_Shift_Del_p.A88fs|SAMD3_ENST00000532763.1_Frame_Shift_Del_p.A88fs|SAMD3_ENST00000437477.2_Frame_Shift_Del_p.A88fs|SAMD3_ENST00000533296.1_5'UTR|SAMD3_ENST00000457563.2_Frame_Shift_Del_p.A112fs	NM_001258275.1	NP_001245204.1	Q8N6K7	SAMD3_HUMAN	sterile alpha motif domain containing 3	88										breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(3)|lung(15)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	29				GBM - Glioblastoma multiforme(226;0.00594)|OV - Ovarian serous cystadenocarcinoma(155;0.128)		CTCTCGAGCTGCTTCTGTTTG	0.428																																						ENST00000532763.1																			0				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(3)|lung(15)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	29						c.(259-261)gafs		sterile alpha motif domain containing 3							119	122	121					6																	130535491		2203	4300	6503	SO:0001589	frameshift_variant	154075							g.chr6:130535491delG	AK091351	CCDS34539.1, CCDS64525.1	6q23.1	2013-01-10			ENSG00000164483	ENSG00000164483		"Sterile alpha motif (SAM) domain containing"	21574	protein-coding gene	gene with protein product							Standard	NM_001017373		Approved	bA73O6.2, FLJ34032	uc031spp.1	Q8N6K7	OTTHUMG00000015556	ENST00000368134.2:c.260delC	6.37:g.130535491delG	ENSP00000357116:p.Ala88fs					SAMD3_ENST00000437477.2_Frame_Shift_Del_p.A88fs|SAMD3_ENST00000368134.2_Frame_Shift_Del_p.A88fs|SAMD3_ENST00000324172.6_Frame_Shift_Del_p.A88fs|SAMD3_ENST00000533296.1_5'UTR|SAMD3_ENST00000439090.2_Frame_Shift_Del_p.A88fs|SAMD3_ENST00000457563.2_Frame_Shift_Del_p.A112fs	p.A88fs			Q8N6K7	SAMD3_HUMAN		GBM - Glioblastoma multiforme(226;0.00594)|OV - Ovarian serous cystadenocarcinoma(155;0.128)	3	389	-			88					B4DY20|E1P576|J3KQK4|Q4VXD8|Q8NAY1|Q8NB96	Frame_Shift_Del	DEL	ENST00000368134.2	37	c.260delC	CCDS34539.1																																																																																				0.428	SAMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042197.3	NM_152552		12	197						12	197	---	---	---	---	-	130535491	G	-	130535491	7	5	194	1	0	1	0	1	0	0	0	0	13820	1319	46	0	1354	0	SAMD3	6	130535491	Frame_Shift_Del	DEL	G	TCGA-H9-A6BY-01A-11D-A30E-08	2738579	130535491	40579576	11	8996											
RP1L1	94137	broad.mit.edu	37	chr8	10464989	10464989	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ctctacaccttctaactctgGttgggcctccccttctgcct	4	14	6	17	0	4	0	0	0	4	0	5	0	5	0	5	2	3	1	5	2	2	5			TCGA-H9-A6BY-01A-11D-A30E-08	TCGA-H9-A6BY-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e25c1b9-c691-44c5-bc32-85ddca3e1196	57d5137e-6a41-4e03-a279-e4ee1cf06472	g.chr8:10464989G>T	ENST00000382483.3	-	4	6842	c.6619C>A	c.(6619-6621)Cca>Aca	p.P2207T		NM_178857.5	NP_849188.4	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	2287	25 X 16 AA approximate tandem repeats of [ED]-[AT]-[PQ]-[ED]-[AVT]-E-[GKE]-[ED]- [AMT]-Q-[EPK]-[EAT]-[TSELP]-[EG]- [EGSQDI]-[AVIE].				cell projection organization (GO:0030030)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|visual perception (GO:0007601)	axoneme (GO:0005930)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|photoreceptor connecting cilium (GO:0032391)|photoreceptor outer segment (GO:0001750)				breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		TCTAACTCTGGTTGGGCCTCC	0.632																																						ENST00000382483.3																			0				breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148						c.(6619-6621)Cca>Aca		retinitis pigmentosa 1-like 1							140	153	149					8																	10464989		1884	4104	5988	SO:0001583	missense	94137				intracellular signal transduction			g.chr8:10464989G>T	AY168346	CCDS43708.1	8p23.1	2011-12-06			ENSG00000183638	ENSG00000183638			15946	protein-coding gene	gene with protein product		608581				12634863	Standard	NM_178857		Approved	DCDC4B	uc003wtc.3	Q8IWN7	OTTHUMG00000163806	ENST00000382483.3:c.6619C>A	8.37:g.10464989G>T	ENSP00000371923:p.Pro2207Thr						p.P2207T	NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN		COAD - Colon adenocarcinoma(149;0.0811)	4	6842	-			2207					Q86SQ1|Q8IWN8|Q8IWN9|Q8IWP0|Q8IWP1|Q8IWP2	Missense_Mutation	SNP	ENST00000382483.3	37	c.6619C>A	CCDS43708.1	.	.	.	.	.	.	.	.	.	.	G	0.840	-0.742223	0.03088	.	.	ENSG00000183638	ENST00000382483	T	0.14516	2.5	1.56	1.56	0.23342	.	.	.	.	.	T	0.09905	0.0243	L	0.27053	0.805	0.09310	N	1	D	0.56287	0.975	B	0.42522	0.39	T	0.24333	-1.0163	9	0.40728	T	0.16	.	9.0652	0.36458	0.0:0.0:1.0:0.0	.	2207	A6NKC6	.	T	2207	ENSP00000371923:P2207T	ENSP00000371923:P2207T	P	-	1	0	RP1L1	10502399	0.000000	0.05858	0.003000	0.11579	0.011000	0.07611	-1.287000	0.02785	1.193000	0.43086	0.430000	0.28490	CCA		0.632	RP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375673.1			26	429	1	0	0.000117367	1	0.000122062	26	429					T	10464989	G	T	10464989	3	4	194	1	0	0	0	0	1	0	0	0	13533	1261	44	5	587	5	RP1L1	8	10464989	Missense_Mutation	SNP	G	TCGA-H9-A6BY-01A-11D-A30E-08		10464989	135899033	12	8997											
CRISPLD1	83690	broad.mit.edu	37	chr8	75929559	75929559	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cctccttttttccaagcaatCcagcatctgtagagctgcaa	10	12	6	13	0	1	1	0	0	1	1	4	1	4	1	4	0	4	5	4	0	4	4			TCGA-H9-A6BY-01A-11D-A30E-08	TCGA-H9-A6BY-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e25c1b9-c691-44c5-bc32-85ddca3e1196	57d5137e-6a41-4e03-a279-e4ee1cf06472	g.chr8:75929559C>T	ENST00000262207.4	+	10	1469	c.1001C>T	c.(1000-1002)tCc>tTc	p.S334F	CRISPLD1_ENST00000523524.1_Missense_Mutation_p.S146F|CRISPLD1_ENST00000517786.1_Missense_Mutation_p.S148F	NM_031461.5	NP_113649.1	Q9H336	CRLD1_HUMAN	cysteine-rich secretory protein LCCL domain containing 1	334	LCCL 1. {ECO:0000255|PROSITE- ProRule:PRU00123}.				face morphogenesis (GO:0060325)	extracellular vesicular exosome (GO:0070062)				biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(7)|large_intestine(10)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Breast(64;0.0799)		Epithelial(68;0.155)|BRCA - Breast invasive adenocarcinoma(89;0.161)			TCCAAGCAATCCAGCATCTGT	0.338																																						ENST00000262207.4																			0				biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(7)|large_intestine(10)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						c.(1000-1002)tCc>tTc		cysteine-rich secretory protein LCCL domain containing 1							89	95	93					8																	75929559		2203	4298	6501	SO:0001583	missense	83690					extracellular region		g.chr8:75929559C>T	AL834301	CCDS6219.1, CCDS69497.1, CCDS75754.1	8q21.13	2005-09-23	2005-02-16	2005-02-16	ENSG00000121005	ENSG00000121005			18206	protein-coding gene	gene with protein product			"LCCL domain containing cysteine-rich secretory protein 1"	LCRISP1			Standard	NM_031461		Approved	Cocoacrisp, DKFZp762F133	uc003yan.3	Q9H336	OTTHUMG00000164529	ENST00000262207.4:c.1001C>T	8.37:g.75929559C>T	ENSP00000262207:p.Ser334Phe					CRISPLD1_ENST00000523524.1_Missense_Mutation_p.S146F|CRISPLD1_ENST00000517786.1_Missense_Mutation_p.S148F	p.S334F	NM_031461.5	NP_113649.1	Q9H336	CRLD1_HUMAN	Epithelial(68;0.155)|BRCA - Breast invasive adenocarcinoma(89;0.161)		10	1469	+	Breast(64;0.0799)		334			LCCL 1.		B2RA60|B7Z929	Missense_Mutation	SNP	ENST00000262207.4	37	c.1001C>T	CCDS6219.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.074221	0.76415	.	.	ENSG00000121005	ENST00000262207;ENST00000523524;ENST00000517786	D;D;D	0.95656	-3.77;-3.77;-3.77	5.42	5.42	0.78866	LCCL (5);	0.000000	0.85682	D	0.000000	D	0.98723	0.9571	H	0.97564	4.03	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.91635	0.998;0.999	D	0.99312	1.0904	10	0.87932	D	0	.	19.416	0.94700	0.0:1.0:0.0:0.0	.	148;334	B7Z929;Q9H336	.;CRLD1_HUMAN	F	334;146;148	ENSP00000262207:S334F;ENSP00000430105:S146F;ENSP00000429746:S148F	ENSP00000262207:S334F	S	+	2	0	CRISPLD1	76092114	1.000000	0.71417	1.000000	0.80357	0.539000	0.34962	5.576000	0.67437	2.821000	0.97095	0.650000	0.86243	TCC		0.338	CRISPLD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379117.1	NM_031461		5	84	0	0	0	1	0	5	84					T	75929559	C	T	75929559	3	4	194	1	0	0	0	0	1	0	0	0	3882	855	30	3	1035	3	CRISPLD1	8	75929559	Missense_Mutation	SNP	C	TCGA-H9-A6BY-01A-11D-A30E-08	65464570	75929559	70434463	13	8998											
DPY19L4	286148	broad.mit.edu	37	chr8	95795914	95795914	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcagaaggcaagctccagttGcagctgtgtttgcagggagt	9	9	15	8	0	0	1	0	0	0	1	1	2	1	2	1	2	4	8	1	2	2	2			TCGA-H9-A6BY-01A-11D-A30E-08	TCGA-H9-A6BY-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e25c1b9-c691-44c5-bc32-85ddca3e1196	57d5137e-6a41-4e03-a279-e4ee1cf06472	g.chr8:95795914G>T	ENST00000414645.2	+	17	1831	c.1732G>T	c.(1732-1734)Gca>Tca	p.A578S		NM_181787.2	NP_861452.2	Q7Z388	D19L4_HUMAN	dpy-19-like 4 (C. elegans)	578						integral component of membrane (GO:0016021)	transferase activity, transferring glycosyl groups (GO:0016757)	p.A578T(1)		breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(2)	21	Breast(36;3.85e-06)					AGCTCCAGTTGCAGCTGTGTT	0.403																																						ENST00000414645.2																			1	Substitution - Missense(1)	p.A578T(1)	breast(1)	breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(2)	21						c.(1732-1734)Gca>Tca		dpy-19-like 4 (C. elegans)							133	114	121					8																	95795914		2203	4300	6503	SO:0001583	missense	286148					integral to membrane		g.chr8:95795914G>T		CCDS34924.1	8q22.1	2006-11-24			ENSG00000156162	ENSG00000156162			27829	protein-coding gene	gene with protein product		613895					Standard	NM_181787		Approved		uc003ygx.2	Q7Z388	OTTHUMG00000164589	ENST00000414645.2:c.1732G>T	8.37:g.95795914G>T	ENSP00000389630:p.Ala578Ser						p.A578S	NM_181787.2	NP_861452.2	Q7Z388	D19L4_HUMAN			17	1831	+	Breast(36;3.85e-06)		578					Q6ZW32|Q6ZW42|Q7Z329	Missense_Mutation	SNP	ENST00000414645.2	37	c.1732G>T	CCDS34924.1	.	.	.	.	.	.	.	.	.	.	G	7.931	0.740639	0.15642	.	.	ENSG00000156162	ENST00000414645	T	0.54675	0.56	5.08	3.28	0.37604	.	0.324151	0.32002	N	0.006722	T	0.34221	0.0890	L	0.27053	0.805	0.32883	D	0.510818	B	0.25850	0.136	B	0.26202	0.067	T	0.36915	-0.9728	10	0.12430	T	0.62	-11.1548	8.9702	0.35901	0.2279:0.0:0.7721:0.0	.	578	Q7Z388	D19L4_HUMAN	S	578	ENSP00000389630:A578S	ENSP00000389630:A578S	A	+	1	0	DPY19L4	95865090	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	3.731000	0.55013	0.659000	0.30945	-0.145000	0.13849	GCA		0.403	DPY19L4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379339.1	NM_181787		15	24	1	0	5.01169e-05	1	5.31853e-05	15	24					T	95795914	G	T	95795914	3	4	194	1	0	0	0	0	1	0	0	0	4743	1319	46	5	1798	5	DPY19L4	8	95795914	Missense_Mutation	SNP	G	TCGA-H9-A6BY-01A-11D-A30E-08	19866355	95795914	50568108	14	8999											
C9orf125	84302	broad.mit.edu	37	chr9	104238562	104238562	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caggttagtaagggccccagCaacatgcctacaccaaccca	13	5	8	15	0	0	0	0	0	0	0	0	0	0	0	5	2	5	3	5	2	5	3			TCGA-H9-A6BY-01A-11D-A30E-08	TCGA-H9-A6BY-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e25c1b9-c691-44c5-bc32-85ddca3e1196	57d5137e-6a41-4e03-a279-e4ee1cf06472	g.chr9:104238562C>A	ENST00000374851.1	-	4	1960	c.813G>T	c.(811-813)ttG>ttT	p.L271F	RP11-490D19.6_ENST00000425734.1_RNA|RP11-490D19.6_ENST00000431507.1_RNA|TMEM246_ENST00000374848.3_Missense_Mutation_p.L271F|RP11-490D19.6_ENST00000450109.1_RNA|RP11-490D19.6_ENST00000424154.1_RNA|TMEM246_ENST00000374847.1_Missense_Mutation_p.L271F			Q9BRR3	TM246_HUMAN	transmembrane protein 246	271						integral component of membrane (GO:0016021)											AGGGCCCCAGCAACATGCCTA	0.537																																						ENST00000374851.1																			0											c.(811-813)ttG>ttT		transmembrane protein 246							100	101	101					9																	104238562		2203	4300	6503	SO:0001583	missense	84302					integral to membrane		g.chr9:104238562C>A	BC006115	CCDS6757.1	9q31.1	2012-04-02	2012-04-02	2012-04-02	ENSG00000165152	ENSG00000165152			28180	protein-coding gene	gene with protein product			"chromosome 9 open reading frame 125"	C9orf125		12477932	Standard	NM_032342		Approved	MGC12992	uc004bbm.3	Q9BRR3	OTTHUMG00000020381	ENST00000374851.1:c.813G>T	9.37:g.104238562C>A	ENSP00000363984:p.Leu271Phe					TMEM246_ENST00000374848.3_Missense_Mutation_p.L271F|RP11-490D19.6_ENST00000450109.1_RNA|RP11-490D19.6_ENST00000431507.1_RNA|RP11-490D19.6_ENST00000425734.1_RNA|RP11-490D19.6_ENST00000424154.1_RNA|TMEM246_ENST00000374847.1_Missense_Mutation_p.L271F	p.L271F			Q9BRR3	CI125_HUMAN			4	1960	-			271					Q49AQ4	Missense_Mutation	SNP	ENST00000374851.1	37	c.813G>T	CCDS6757.1	.	.	.	.	.	.	.	.	.	.	C	9.388	1.074717	0.20227	.	.	ENSG00000165152	ENST00000374848;ENST00000374847;ENST00000374851	.	.	.	5.69	3.62	0.41486	.	0.395446	0.25264	N	0.031921	T	0.36853	0.0982	N	0.19112	0.55	0.44852	D	0.997868	B	0.06786	0.001	B	0.04013	0.001	T	0.14476	-1.0471	9	0.19147	T	0.46	-4.8886	8.9547	0.35809	0.2866:0.597:0.1165:0.0	.	271	Q9BRR3	CI125_HUMAN	F	271	.	ENSP00000363980:L271F	L	-	3	2	C9orf125	103278383	0.977000	0.34250	1.000000	0.80357	0.998000	0.95712	0.515000	0.22801	2.696000	0.92011	0.557000	0.71058	TTG		0.537	TMEM246-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053444.1	NM_032342		70	129	1	0	4.37588e-27	1	4.74054e-27	70	129					A	104238562	C	A	104238562	3	1	194	1	0	0	0	0	1	0	0	0	2454	709	25	5	402	5	C9orf125	9	104238562	Missense_Mutation	SNP	C	TCGA-H9-A6BY-01A-11D-A30E-08		104238562	36974869	15	9000											
AKNA	80709	broad.mit.edu	37	chr9	117104291	117104291	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aacagtatttgtccctaccaGaggtggctgagcctggacca	10	9	11	11	0	0	2	0	1	0	1	1	3	1	3	4	3	3	2	4	3	3	3			TCGA-H9-A6BY-01A-11D-A30E-08	TCGA-H9-A6BY-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e25c1b9-c691-44c5-bc32-85ddca3e1196	57d5137e-6a41-4e03-a279-e4ee1cf06472	g.chr9:117104291G>A	ENST00000307564.4	-	20	4033	c.3872C>T	c.(3871-3873)tCt>tTt	p.S1291F	AKNA_ENST00000374075.5_Missense_Mutation_p.S1210F|AKNA_ENST00000374088.3_Missense_Mutation_p.S1291F|AKNA_ENST00000223791.3_Missense_Mutation_p.S751F|AKNA_ENST00000374079.4_Missense_Mutation_p.S236F|AKNA_ENST00000492875.1_5'UTR	NM_030767.4	NP_110394.3	Q7Z591	AKNA_HUMAN	AT-hook transcription factor	1291					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	membrane (GO:0016020)|nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(7)|liver(2)|lung(22)|ovary(4)|stomach(2)	51						GTCCCTACCAGAGGTGGCTGA	0.567																																						ENST00000307564.4																			0				breast(3)|central_nervous_system(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(7)|liver(2)|lung(22)|ovary(4)|stomach(2)	51						c.(3871-3873)tCt>tTt		AT-hook transcription factor							90	87	88					9																	117104291		2203	4300	6503	SO:0001583	missense	80709				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr9:117104291G>A	AK024431	CCDS6805.1	9q32	2008-02-05			ENSG00000106948	ENSG00000106948			24108	protein-coding gene	gene with protein product		605729				11268217, 11853319	Standard	NM_030767		Approved	KIAA1968	uc004bis.3	Q7Z591	OTTHUMG00000020538	ENST00000307564.4:c.3872C>T	9.37:g.117104291G>A	ENSP00000303769:p.Ser1291Phe					AKNA_ENST00000374079.4_Missense_Mutation_p.S236F|AKNA_ENST00000223791.3_Missense_Mutation_p.S751F|AKNA_ENST00000374075.5_Missense_Mutation_p.S1210F|AKNA_ENST00000374088.3_Missense_Mutation_p.S1291F|AKNA_ENST00000492875.1_5'UTR	p.S1291F	NM_030767.4	NP_110394.3	Q7Z591	AKNA_HUMAN			20	4033	-			1291					Q05BK5|Q5T535|Q5T536|Q5T537|Q64FX6|Q64FX7|Q64FX8|Q64FY2|Q6ZMK0|Q6ZNL2|Q6ZTX0|Q8TET1|Q8TF33|Q96RR9|Q9H7P7	Missense_Mutation	SNP	ENST00000307564.4	37	c.3872C>T	CCDS6805.1	.	.	.	.	.	.	.	.	.	.	G	13.42	2.230489	0.39399	.	.	ENSG00000106948	ENST00000307564;ENST00000374079;ENST00000374088;ENST00000223791;ENST00000374075	T;T;T;T;T	0.26660	1.99;1.72;1.99;1.74;1.98	4.83	3.93	0.45458	.	0.231194	0.31010	N	0.008426	T	0.43456	0.1248	M	0.64997	1.995	0.32632	N	0.521815	D;D	0.61697	0.984;0.99	P;D	0.63192	0.819;0.912	T	0.58387	-0.7645	10	0.66056	D	0.02	-16.07	11.7843	0.52032	0.0:0.178:0.8219:0.0	.	1291;1210	Q7Z591;Q7Z591-2	AKNA_HUMAN;.	F	1291;236;1291;751;1210	ENSP00000303769:S1291F;ENSP00000363192:S236F;ENSP00000363201:S1291F;ENSP00000223791:S751F;ENSP00000363188:S1210F	ENSP00000223791:S751F	S	-	2	0	AKNA	116144112	0.999000	0.42202	0.981000	0.43875	0.611000	0.37282	3.145000	0.50623	1.315000	0.45114	0.563000	0.77884	TCT		0.567	AKNA-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053767.2	NM_030767		33	71	0	0	0	1	0	33	71					A	117104291	G	A	117104291	3	1	194	1	0	0	0	0	1	0	0	0	463	942	33	3	459	3	AKNA	9	117104291	Missense_Mutation	SNP	G	TCGA-H9-A6BY-01A-11D-A30E-08	12865729	117104291	24109140	16	9001											
ZFYVE27	118813	broad.mit.edu	37	chr10	99502873	99502873	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggcagatgcctttgtgttccTtgctgacctgcctgggcctc	3	13	12	13	0	0	2	0	1	0	1	2	2	1	2	5	2	3	3	5	2	0	3			TCGA-H9-A6BY-01A-11D-A30E-08	TCGA-H9-A6BY-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e25c1b9-c691-44c5-bc32-85ddca3e1196	57d5137e-6a41-4e03-a279-e4ee1cf06472	g.chr10:99502873T>G	ENST00000393677.4	+	3	424	c.220T>G	c.(220-222)Ttg>Gtg	p.L74V	ZFYVE27_ENST00000356257.4_Missense_Mutation_p.L74V|ZFYVE27_ENST00000370613.3_Intron|ZFYVE27_ENST00000370610.3_Intron|ZFYVE27_ENST00000453958.2_Missense_Mutation_p.L74V|ZFYVE27_ENST00000357540.4_Intron|ZFYVE27_ENST00000359980.3_Missense_Mutation_p.L74V|ZFYVE27_ENST00000337540.7_Intron	NM_144588.6	NP_653189.3	Q5T4F4	ZFY27_HUMAN	zinc finger, FYVE domain containing 27	74					cell death (GO:0008219)|neuron projection development (GO:0031175)|neurotrophin TRK receptor signaling pathway (GO:0048011)|protein localization to plasma membrane (GO:0072659)	axon (GO:0030424)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|growth cone membrane (GO:0032584)|integral component of membrane (GO:0016021)|recycling endosome membrane (GO:0055038)	metal ion binding (GO:0046872)			endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	8		Colorectal(252;0.0846)		Epithelial(162;7.08e-10)|all cancers(201;5.18e-08)		TTTGTGTTCCTTGCTGACCTG	0.547																																						ENST00000393677.4																			0				endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	8						c.(220-222)Ttg>Gtg		zinc finger, FYVE domain containing 27							305	211	243					10																	99502873		2203	4300	6503	SO:0001583	missense	118813				cell death|nerve growth factor receptor signaling pathway|neuron projection development|protein localization in plasma membrane	axon|dendrite|endoplasmic reticulum membrane|growth cone membrane|integral to membrane|recycling endosome membrane	metal ion binding|protein binding	g.chr10:99502873T>G	BC030621	CCDS31263.1, CCDS31264.1, CCDS53562.1, CCDS53563.1, CCDS53564.1, CCDS53565.1	10q24.2	2013-09-11			ENSG00000155256	ENSG00000155256		"Zinc fingers, FYVE domain containing"	26559	protein-coding gene	gene with protein product	"protrudin"	610243				14702039	Standard	NM_144588		Approved	FLJ32919, SPG33	uc001kol.2	Q5T4F4	OTTHUMG00000018867	ENST00000393677.4:c.220T>G	10.37:g.99502873T>G	ENSP00000377282:p.Leu74Val					ZFYVE27_ENST00000357540.4_Intron|ZFYVE27_ENST00000356257.4_Missense_Mutation_p.L74V|ZFYVE27_ENST00000359980.3_Missense_Mutation_p.L74V|ZFYVE27_ENST00000453958.2_Missense_Mutation_p.L74V|ZFYVE27_ENST00000337540.7_Intron|ZFYVE27_ENST00000370610.3_Intron|ZFYVE27_ENST00000370613.3_Intron	p.L74V	NM_144588.6	NP_653189.3	Q5T4F4	ZFY27_HUMAN		Epithelial(162;7.08e-10)|all cancers(201;5.18e-08)	3	424	+		Colorectal(252;0.0846)	74					B7Z3S0|B7Z404|B7Z626|G8JLC3|G8JLF0|J3KP98|Q5T4F1|Q5T4F2|Q5T4F3|Q8N1K0|Q8N6D6|Q8NCA0|Q8NDE4|Q96M08	Missense_Mutation	SNP	ENST00000393677.4	37	c.220T>G	CCDS31263.1	.	.	.	.	.	.	.	.	.	.	T	19.03	3.747250	0.69418	.	.	ENSG00000155256	ENST00000393677;ENST00000453958;ENST00000359980;ENST00000356257;ENST00000423811	T;T;T;T;T	0.56776	0.49;0.52;0.44;0.44;0.48	5.91	3.63	0.41609	.	0.064498	0.64402	D	0.000005	T	0.54029	0.1833	L	0.32530	0.975	0.80722	D	1	D;D;D	0.69078	0.997;0.96;0.996	D;B;P	0.64042	0.921;0.445;0.836	T	0.52946	-0.8507	10	0.48119	T	0.1	-13.4508	7.425	0.27094	0.0:0.1795:0.0:0.8205	.	74;74;74	Q5T4F4-3;Q5T4F4-2;Q5T4F4	.;.;ZFY27_HUMAN	V	74;74;74;74;52	ENSP00000377282:L74V;ENSP00000401580:L74V;ENSP00000353069:L74V;ENSP00000348593:L74V;ENSP00000409594:L52V	ENSP00000348593:L74V	L	+	1	2	ZFYVE27	99492863	0.998000	0.40836	1.000000	0.80357	0.982000	0.71751	1.329000	0.33770	2.263000	0.75096	0.377000	0.23210	TTG		0.547	ZFYVE27-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000049745.2	NM_144588		41	87	0	0	0	1	0	41	87					G	99502873	T	G	99502873	3	3	194	1	0	0	0	0	1	0	0	0	17666	1606	56	5	226	5	ZFYVE27	10	99502873	Missense_Mutation	SNP	T	TCGA-H9-A6BY-01A-11D-A30E-08		99502873	36031874	17	9002											
CHRNA10	57053	broad.mit.edu	37	chr11	3691150	3691150	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaacagcttgagagccagcCggccctcagctcccaggcac	9	4	12	16	1	1	1	1	1	0	1	2	3	2	2	4	3	5	3	4	3	1	1	rs369800306		TCGA-H9-A6BY-01A-11D-A30E-08	TCGA-H9-A6BY-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e25c1b9-c691-44c5-bc32-85ddca3e1196	57d5137e-6a41-4e03-a279-e4ee1cf06472	g.chr11:3691150C>T	ENST00000250699.2	-	2	154	c.83G>A	c.(82-84)cGg>cAg	p.R28Q	CHRNA10_ENST00000493827.2_5'Flank|CHRNA10_ENST00000534359.1_Intron	NM_020402.2	NP_065135.2	Q9GZZ6	ACH10_HUMAN	cholinergic receptor, nicotinic, alpha 10 (neuronal)	28					detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|inner ear morphogenesis (GO:0042472)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of cell proliferation (GO:0042127)|synaptic transmission, cholinergic (GO:0007271)	axon (GO:0030424)|cell junction (GO:0030054)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|perikaryon (GO:0043204)|postsynaptic membrane (GO:0045211)	acetylcholine-activated cation-selective channel activity (GO:0004889)|calcium channel activity (GO:0005262)|receptor binding (GO:0005102)			breast(1)|endometrium(2)|lung(3)|ovary(1)	7		Medulloblastoma(188;0.0075)|Breast(177;0.0164)|all_neural(188;0.0577)		BRCA - Breast invasive adenocarcinoma(625;0.0344)|LUSC - Lung squamous cell carcinoma(625;0.192)	Chloroprocaine(DB01161)|Galantamine(DB00674)|Methadone(DB00333)|Nicotine(DB00184)|Pentolinium(DB01090)|Succinylcholine(DB00202)|Trimethaphan(DB01116)	GAGAGCCAGCCGGCCCTCAGC	0.612																																					Melanoma(153;17 1869 2949 7120 36888)	ENST00000250699.2																			0				breast(1)|endometrium(2)|lung(3)|ovary(1)	7						c.(82-84)cGg>cAg		cholinergic receptor, nicotinic, alpha 10 (neuronal)	Chloroprocaine(DB01161)|Methadone(DB00333)|Nicotine(DB00184)|Pentolinium(DB01090)|Procaine(DB00721)|Trimethaphan(DB01116)						117	95	103					11																	3691150		2201	4298	6499	SO:0001583	missense	57053				elevation of cytosolic calcium ion concentration|regulation of cell proliferation|synaptic transmission, cholinergic	cell junction|postsynaptic membrane	calcium channel activity|receptor activity|receptor binding	g.chr11:3691150C>T	AF199235	CCDS7745.1	11p15.5	2012-02-11	2012-02-07		ENSG00000129749	ENSG00000129749		"Cholinergic receptors", "Ligand-gated ion channels / Acetylcholine receptors, nicotinic"	13800	protein-coding gene	gene with protein product	"acetylcholine receptor, nicotinic, alpha 10 (neuronal)"	606372	"cholinergic receptor, nicotinic, alpha polypeptide 10"				Standard	NM_020402		Approved		uc001lyf.3	Q9GZZ6	OTTHUMG00000011844	ENST00000250699.2:c.83G>A	11.37:g.3691150C>T	ENSP00000250699:p.Arg28Gln					CHRNA10_ENST00000534359.1_Intron	p.R28Q	NM_020402.2	NP_065135.2	Q9GZZ6	ACH10_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.0344)|LUSC - Lung squamous cell carcinoma(625;0.192)	2	154	-		Medulloblastoma(188;0.0075)|Breast(177;0.0164)|all_neural(188;0.0577)	28						Missense_Mutation	SNP	ENST00000250699.2	37	c.83G>A	CCDS7745.1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.393658	0.83011	.	.	ENSG00000129749	ENST00000250699	T	0.76839	-1.05	5.41	3.19	0.36642	Neurotransmitter-gated ion-channel ligand-binding (1);	0.855033	0.10076	N	0.719088	T	0.64713	0.2623	L	0.31752	0.955	0.80722	D	1	B	0.33238	0.403	B	0.25614	0.062	T	0.59311	-0.7478	10	0.39692	T	0.17	.	10.4531	0.44535	0.0:0.8108:0.0:0.1892	.	28	Q9GZZ6	ACH10_HUMAN	Q	28	ENSP00000250699:R28Q	ENSP00000250699:R28Q	R	-	2	0	CHRNA10	3647726	0.010000	0.17322	1.000000	0.80357	0.983000	0.72400	0.084000	0.14891	1.284000	0.44531	0.655000	0.94253	CGG		0.612	CHRNA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032763.2			31	62	0	0	0	1	0	31	62					T	3691150	C	T	3691150	3	4	194	1	0	0	0	0	1	0	0	0	3382	652	23	2	1285	2	CHRNA10	11	3691150	Missense_Mutation	SNP	C	TCGA-H9-A6BY-01A-11D-A30E-08		3691150	131315366	18	9003											
NUP98	4928	broad.mit.edu	37	chr11	3797159	3797159	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agcagctgtaaaactacttgGcccaaagagggagccagatg	14	6	12	9	0	0	2	0	0	0	2	0	3	0	3	2	2	5	3	2	2	4	3			TCGA-H9-A6BY-01A-11D-A30E-08	TCGA-H9-A6BY-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e25c1b9-c691-44c5-bc32-85ddca3e1196	57d5137e-6a41-4e03-a279-e4ee1cf06472	g.chr11:3797159G>T	ENST00000324932.7	-	5	868	c.448C>A	c.(448-450)Cca>Aca	p.P150T	NUP98_ENST00000397004.4_Missense_Mutation_p.P150T|NUP98_ENST00000355260.3_Missense_Mutation_p.P150T|NUP98_ENST00000359171.4_Missense_Mutation_p.P150T|NUP98_ENST00000397007.4_Missense_Mutation_p.P150T	NM_016320.4|NM_139132.3	NP_057404.2|NP_624358.2	P52948	NUP98_HUMAN	nucleoporin 98kDa	150	FG repeats 1.|Gly/Thr-rich.				carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|DNA replication (GO:0006260)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|nuclear pore organization (GO:0006999)|nucleocytoplasmic transport (GO:0006913)|protein import into nucleus, docking (GO:0000059)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|nuclear envelope (GO:0005635)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)|nuclear pore outer ring (GO:0031080)|nucleoplasm (GO:0005654)	peptide binding (GO:0042277)|structural constituent of nuclear pore (GO:0017056)|transporter activity (GO:0005215)			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199)		AAACTACTTGGCCCAAAGAGG	0.398			T	"HOXA9, NSD1, WHSC1L1, DDX10, TOP1, HOXD13, PMX1, HOXA13, HOXD11, HOXA11, RAP1GDS1, HOXC11"	AML																																	ENST00000324932.7				Dom	yes		11	11p15	4928	T	nucleoporin 98kDa			L	"HOXA9, NSD1, WHSC1L1, DDX10, TOP1, HOXD13, PMX1, HOXA13, HOXD11, HOXA11, RAP1GDS1, HOXC11"		AML		0				NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66						c.(448-450)Cca>Aca		nucleoporin 98kDa							127	135	132					11																	3797159		2201	4298	6499	SO:0001583	missense	4928				carbohydrate metabolic process|DNA replication|glucose transport|interspecies interaction between organisms|mitotic prometaphase|mRNA transport|nuclear pore organization|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear membrane|nucleoplasm|Nup107-160 complex	protein binding|structural constituent of nuclear pore|transporter activity	g.chr11:3797159G>T	AF071076, AF231130, BC012906, BG773331	CCDS7746.1, CCDS31347.1, CCDS41605.1, CCDS41606.1	11p15	2008-02-26	2002-08-29		ENSG00000110713	ENSG00000110713			8068	protein-coding gene	gene with protein product		601021	"nucleoporin 98kD"			9166830	Standard	NM_139131		Approved	NUP96	uc001lyh.3	P52948	OTTHUMG00000011846	ENST00000324932.7:c.448C>A	11.37:g.3797159G>T	ENSP00000316032:p.Pro150Thr					NUP98_ENST00000397004.4_Missense_Mutation_p.P150T|NUP98_ENST00000397007.4_Missense_Mutation_p.P150T|NUP98_ENST00000359171.4_Missense_Mutation_p.P150T|NUP98_ENST00000355260.3_Missense_Mutation_p.P150T	p.P150T	NM_016320.4|NM_139132.3	NP_057404.2|NP_624358.2	P52948	NUP98_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199)	5	868	-		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)	150			Gly/Thr-rich.		Q8IUT2|Q8WYB0|Q96E54|Q9H3Q4|Q9NT02|Q9UF57|Q9UHX0|Q9Y6J4|Q9Y6J5	Missense_Mutation	SNP	ENST00000324932.7	37	c.448C>A	CCDS7746.1	.	.	.	.	.	.	.	.	.	.	G	14.38	2.519181	0.44866	.	.	ENSG00000110713	ENST00000324932;ENST00000359171;ENST00000355260;ENST00000397004;ENST00000397007;ENST00000532475	.	.	.	5.45	5.45	0.79879	.	0.279058	0.35436	N	0.003201	T	0.15652	0.0377	N	0.03324	-0.35	0.30538	N	0.766729	P;P;B;P;P	0.44044	0.577;0.458;0.248;0.825;0.702	B;B;B;B;B	0.37650	0.13;0.137;0.097;0.255;0.255	T	0.05484	-1.0882	9	0.12430	T	0.62	.	13.5835	0.61917	0.0:0.1558:0.8442:0.0	.	150;150;150;150;150	P52948;P52948-3;P52948-4;P52948-2;P52948-5	NUP98_HUMAN;.;.;.;.	T	150;150;150;150;150;113	.	ENSP00000316032:P150T	P	-	1	0	NUP98	3753735	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.769000	0.38522	2.573000	0.86826	0.655000	0.94253	CCA		0.398	NUP98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032766.3	NM_016320		4	131	1	0	1	1	1	4	131					T	3797159	G	T	3797159	3	4	194	1	0	0	0	0	1	0	0	0	10773	1203	42	5	5142	5	NUP98	11	3797159	Missense_Mutation	SNP	G	TCGA-H9-A6BY-01A-11D-A30E-08	106009	3797159	131209357	19	9004											
FJX1	24147	broad.mit.edu	37	chr11	35640220	35640220	+	Frame_Shift_Del	DEL	G	G	-																															cggggcgccgccgccaccgcGgggctctggctgctggcgct																										TCGA-H9-A6BY-01A-11D-A30E-08	TCGA-H9-A6BY-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e25c1b9-c691-44c5-bc32-85ddca3e1196	57d5137e-6a41-4e03-a279-e4ee1cf06472	g.chr11:35640220delG	ENST00000317811.4	+	1	486	c.36delG	c.(34-36)gcgfs	p.A12fs		NM_014344.3	NP_055159.2	Q86VR8	FJX1_HUMAN	four jointed box 1 (Drosophila)	12					retina layer formation (GO:0010842)	extracellular space (GO:0005615)				lung(1)|urinary_tract(1)	2	all_cancers(35;0.177)|all_lung(20;0.0238)|Lung NSC(22;0.0494)|all_epithelial(35;0.0739)	all_hematologic(20;0.107)				CCGCCACCGCGGGGCTCTGGC	0.801																																					Melanoma(161;10 2587 27165 47356)	ENST00000317811.4																			0				lung(1)|urinary_tract(1)	2						c.(34-36)gcfs		four jointed box 1 (Drosophila)							2	2	2					11																	35640220		617	1496	2113	SO:0001589	frameshift_variant	24147					extracellular space		g.chr11:35640220delG	AJ245599	CCDS44570.1	11p13	2012-05-18				ENSG00000179431			17166	protein-coding gene	gene with protein product	"putative secreted ligand homologous to fjx1"	612206				7647465, 10072791	Standard	NM_014344		Approved	FLJ22416, FLJ25593	uc001mwh.3	Q86VR8		ENST00000317811.4:c.36delG	11.37:g.35640220delG	ENSP00000400223:p.Ala12fs						p.A12fs	NM_014344.3	NP_055159.2	Q86VR8	FJX1_HUMAN			1	486	+	all_cancers(35;0.177)|all_lung(20;0.0238)|Lung NSC(22;0.0494)|all_epithelial(35;0.0739)	all_hematologic(20;0.107)	12					B2RCA9|Q9UGK6	Frame_Shift_Del	DEL	ENST00000317811.4	37	c.36delG	CCDS44570.1																																																																																				0.801	FJX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389078.1	NM_014344		2	4						2	4	---	---	---	---	-	35640220	G	-	35640220	7	5	194	1	0	1	0	1	0	0	0	0	5901	1103	39	0	38	0	FJX1	11	35640220	Frame_Shift_Del	DEL	G	TCGA-H9-A6BY-01A-11D-A30E-08	31843061	35640220	99366296	20	9005											
NDUFS3	4722	broad.mit.edu	37	chr11	47605984	47605984	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cccagtctatcgccaaccccCggagagtctcaagcttgaag	10	7	9	15	2	2	2	1	1	2	1	4	3	2	2	4	1	2	1	4	1	4	2	rs9600		TCGA-H9-A6BY-01A-11D-A30E-08	TCGA-H9-A6BY-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e25c1b9-c691-44c5-bc32-85ddca3e1196	57d5137e-6a41-4e03-a279-e4ee1cf06472	g.chr11:47605984C>T	ENST00000263774.4	+	7	828	c.746C>T	c.(745-747)cCg>cTg	p.P249L	FAM180B_ENST00000538490.1_5'Flank|FAM180B_ENST00000356737.2_5'Flank|NDUFS3_ENST00000533507.1_3'UTR	NM_004551.2	NP_004542.1	O75489	NDUS3_HUMAN	NADH dehydrogenase (ubiquinone) Fe-S protein 3, 30kDa (NADH-coenzyme Q reductase)	249			P -> Q (in dbSNP:rs9600).		cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|negative regulation of cell growth (GO:0030308)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|reactive oxygen species metabolic process (GO:0072593)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)|substantia nigra development (GO:0021762)	mitochondrial inner membrane (GO:0005743)|mitochondrial membrane (GO:0031966)|mitochondrial respiratory chain complex I (GO:0005747)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	electron carrier activity (GO:0009055)|NADH dehydrogenase (ubiquinone) activity (GO:0008137)|NADH dehydrogenase activity (GO:0003954)			breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(2)	9					Doxorubicin(DB00997)	CGCCAACCCCCGGAGAGTCTC	0.567																																					Pancreas(15;551 601 22438 23457 52512)	ENST00000263774.4																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(2)	9						c.(745-747)cCg>cTg		NADH dehydrogenase (ubiquinone) Fe-S protein 3, 30kDa (NADH-coenzyme Q reductase)	NADH(DB00157)						120	125	123					11																	47605984		2201	4298	6499	SO:0001583	missense	4722				induction of apoptosis|mitochondrial electron transport, NADH to ubiquinone|negative regulation of cell growth|reactive oxygen species metabolic process|transport	mitochondrial respiratory chain complex I	electron carrier activity|NADH dehydrogenase (ubiquinone) activity|protein binding	g.chr11:47605984C>T	AF067139	CCDS7941.1	11p11.11	2011-08-03	2002-08-29		ENSG00000213619	ENSG00000213619	1.6.5.3	"Mitochondrial respiratory chain complex / Complex I"	7710	protein-coding gene	gene with protein product	"complex I 30kDa subunit", "NADH dehydrogenase [ubiquinone] iron-sulfur protein 3, mitochondrial"	603846	"NADH dehydrogenase (ubiquinone) Fe-S protein 3 (30kD) (NADH-coenzyme Q reductase)"			9763677	Standard	NM_004551		Approved	CI-30	uc001nga.2	O75489	OTTHUMG00000166893	ENST00000263774.4:c.746C>T	11.37:g.47605984C>T	ENSP00000263774:p.Pro249Leu					NDUFS3_ENST00000533507.1_3'UTR	p.P249L	NM_004551.2	NP_004542.1	O75489	NDUS3_HUMAN			7	828	+			249		P -> Q (in dbSNP:rs9600).			B2R9J1|B4DFM8|Q9UNQ8	Missense_Mutation	SNP	ENST00000263774.4	37	c.746C>T	CCDS7941.1	.	.	.	.	.	.	.	.	.	.	C	14.90	2.672268	0.47781	.	.	ENSG00000213619	ENST00000263774	T	0.78364	-1.17	5.85	5.85	0.93711	.	0.195954	0.53938	N	0.000041	T	0.66877	0.2834	N	0.21097	0.63	0.80722	D	1	P;B	0.50528	0.936;0.001	B;B	0.36766	0.232;0.001	T	0.72921	-0.4145	10	0.62326	D	0.03	3.6842	20.1775	0.98187	0.0:1.0:0.0:0.0	.	249;175	O75489;Q9UF24	NDUS3_HUMAN;.	L	249	ENSP00000263774:P249L	ENSP00000263774:P249L	P	+	2	0	NDUFS3	47562560	1.000000	0.71417	0.545000	0.28153	0.357000	0.29423	5.736000	0.68597	2.771000	0.95319	0.561000	0.74099	CCG		0.567	NDUFS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391749.1	NM_004551		61	190	0	0	0	1	0	61	190					T	47605984	C	T	47605984	3	4	194	1	0	0	0	0	1	0	0	0	10293	652	23	2	772	2	NDUFS3	11	47605984	Missense_Mutation	SNP	C	TCGA-H9-A6BY-01A-11D-A30E-08	11965764	47605984	87400532	21	9006											
CD27	939	broad.mit.edu	37	chr12	6554692	6554692	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaccaccacacccggccccActgtgagagctgtcggcact	8	6	10	17	2	0	2	0	2	0	1	1	3	0	2	5	2	1	2	5	2	0	0			TCGA-H9-A6BY-01A-11D-A30E-08	TCGA-H9-A6BY-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e25c1b9-c691-44c5-bc32-85ddca3e1196	57d5137e-6a41-4e03-a279-e4ee1cf06472	g.chr12:6554692A>G	ENST00000266557.3	+	2	468	c.239A>G	c.(238-240)cAc>cGc	p.H80R	CD27_ENST00000541233.1_3'UTR|CD27-AS1_ENST00000545339.1_RNA|CD27-AS1_ENST00000399492.2_RNA	NM_001242.4	NP_001233	P26842	CD27_HUMAN	CD27 molecule	80					cell surface receptor signaling pathway (GO:0007166)|extrinsic apoptotic signaling pathway (GO:0097191)|immunoglobulin mediated immune response (GO:0016064)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of T cell apoptotic process (GO:0070233)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of JNK cascade (GO:0046330)|release of cytoplasmic sequestered NF-kappaB (GO:0008588)|response to ethanol (GO:0045471)	external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|transmembrane signaling receptor activity (GO:0004888)			kidney(1)|large_intestine(5)|lung(1)|urinary_tract(3)	10						ACCCGGCCCCACTGTGAGAGC	0.587																																						ENST00000266557.3																			0				kidney(1)|large_intestine(5)|lung(1)|urinary_tract(3)	10						c.(238-240)cAc>cGc		CD27 molecule							54	47	49					12																	6554692		2203	4300	6503	SO:0001583	missense	939				anti-apoptosis|apoptosis|cell surface receptor linked signaling pathway|immunoglobulin mediated immune response|induction of apoptosis|positive regulation of B cell differentiation|positive regulation of JNK cascade|release of cytoplasmic sequestered NF-kappaB	extracellular region|integral to plasma membrane	caspase inhibitor activity|protein binding|transmembrane receptor activity	g.chr12:6554692A>G	M63928	CCDS8545.1	12p13	2014-09-17	2006-10-27	2006-10-27	ENSG00000139193	ENSG00000139193		"Tumor necrosis factor receptor superfamily", "CD molecules"	11922	protein-coding gene	gene with protein product		186711	"tumor necrosis factor receptor superfamily, member 7"	TNFRSF7		2442250, 8530100	Standard	NM_001242		Approved	S152, Tp55	uc001qod.3	P26842	OTTHUMG00000168316	ENST00000266557.3:c.239A>G	12.37:g.6554692A>G	ENSP00000266557:p.His80Arg					CD27_ENST00000541233.1_3'UTR|CD27-AS1_ENST00000399492.2_RNA|CD27-AS1_ENST00000545339.1_RNA	p.H80R	NM_001242.4	NP_001233.1	P26842	CD27_HUMAN			2	468	+			80					B2RDZ0	Missense_Mutation	SNP	ENST00000266557.3	37	c.239A>G	CCDS8545.1	.	.	.	.	.	.	.	.	.	.	A	16.43	3.121287	0.56613	.	.	ENSG00000139193	ENST00000266557	D	0.91068	-2.78	4.54	4.54	0.55810	TNFR/CD27/30/40/95 cysteine-rich region (3);	0.826149	0.10517	N	0.665365	D	0.88540	0.6464	L	0.32530	0.975	0.39126	D	0.961754	P	0.48589	0.912	P	0.52343	0.696	T	0.81777	-0.0777	10	0.11485	T	0.65	-18.7315	10.1894	0.43017	1.0:0.0:0.0:0.0	.	80	P26842	CD27_HUMAN	R	80	ENSP00000266557:H80R	ENSP00000266557:H80R	H	+	2	0	CD27	6424953	1.000000	0.71417	1.000000	0.80357	0.839000	0.47603	4.007000	0.57093	1.912000	0.55364	0.460000	0.39030	CAC		0.587	CD27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399258.1			21	45	0	0	0	1	0	21	45					G	6554692	A	G	6554692	3	3	194	1	0	0	0	0	1	0	0	0	2990	159	6	4	245	4	CD27	12	6554692	Missense_Mutation	SNP	A	TCGA-H9-A6BY-01A-11D-A30E-08		6554692	127297203	22	9007											
AQP2	359	broad.mit.edu	37	chr12	50344881	50344881	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctccgagccgccttctacGtggctgcccagctgctgggg	3	10	13	15	3	2	0	0	0	2	0	3	1	2	0	4	3	5	3	4	3	1	3			TCGA-H9-A6BY-01A-11D-A30E-08	TCGA-H9-A6BY-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e25c1b9-c691-44c5-bc32-85ddca3e1196	57d5137e-6a41-4e03-a279-e4ee1cf06472	g.chr12:50344881G>A	ENST00000199280.3	+	1	353	c.268G>A	c.(268-270)Gtg>Atg	p.V90M	RP11-469H8.6_ENST00000552379.1_RNA|RP11-469H8.6_ENST00000550530.1_RNA	NM_000486.5	NP_000477.1	P41181	AQP2_HUMAN	aquaporin 2 (collecting duct)	90					actin filament depolymerization (GO:0030042)|aging (GO:0007568)|apoptotic process (GO:0006915)|cell volume homeostasis (GO:0006884)|cellular response to copper ion (GO:0071280)|cellular response to mercury ion (GO:0071288)|cellular response to water deprivation (GO:0042631)|excretion (GO:0007588)|female pregnancy (GO:0007565)|glycerol transport (GO:0015793)|hyperosmotic response (GO:0006972)|metanephric collecting duct development (GO:0072205)|positive regulation of calcium ion transport (GO:0051928)|renal water transport (GO:0003097)|response to calcium ion (GO:0051592)|response to glucagon (GO:0033762)|response to lipopolysaccharide (GO:0032496)|response to lithium ion (GO:0010226)|response to salt stress (GO:0009651)|response to starvation (GO:0042594)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|clathrin-coated vesicle (GO:0030136)|early endosome (GO:0005769)|exocytic vesicle (GO:0070382)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|recycling endosome (GO:0055037)|rough endoplasmic reticulum (GO:0005791)|trans-Golgi network (GO:0005802)|transport vesicle membrane (GO:0030658)	glycerol transmembrane transporter activity (GO:0015168)|water channel activity (GO:0015250)|water transmembrane transporter activity (GO:0005372)			breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(4)|ovary(2)	10						CGCCTTCTACGTGGCTGCCCA	0.662																																						ENST00000199280.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(4)|ovary(2)	10						c.(268-270)Gtg>Atg		aquaporin 2 (collecting duct)							24	24	24					12																	50344881		2203	4296	6499	SO:0001583	missense	359				cellular response to copper ion|cellular response to mercury ion|excretion	apical plasma membrane|integral to membrane|transport vesicle membrane	glycerol transmembrane transporter activity|water channel activity	g.chr12:50344881G>A		CCDS8792.1	12q12-q13	2014-09-17				ENSG00000167580		"Ion channels / Aquaporins"	634	protein-coding gene	gene with protein product		107777				7512890	Standard	NM_000486		Approved		uc001rvn.3	P41181		ENST00000199280.3:c.268G>A	12.37:g.50344881G>A	ENSP00000199280:p.Val90Met						p.V90M	NM_000486.5	NP_000477.1	P41181	AQP2_HUMAN			1	353	+			90					Q9UD68	Missense_Mutation	SNP	ENST00000199280.3	37	c.268G>A	CCDS8792.1	.	.	.	.	.	.	.	.	.	.	G	13.27	2.186651	0.38609	.	.	ENSG00000167580	ENST00000199280;ENST00000550862	D;D	0.85629	-2.01;-2.01	4.46	2.56	0.30785	Aquaporin-like (2);	0.276622	0.25050	N	0.033536	T	0.69477	0.3115	L	0.34521	1.04	0.35344	D	0.786731	P	0.48589	0.912	B	0.35413	0.202	T	0.69537	-0.5119	10	0.42905	T	0.14	-6.5878	3.351	0.07153	0.0951:0.1747:0.5494:0.1808	.	90	P41181	AQP2_HUMAN	M	90	ENSP00000199280:V90M;ENSP00000450022:V90M	ENSP00000199280:V90M	V	+	1	0	AQP2	48631148	0.999000	0.42202	0.958000	0.39756	0.965000	0.64279	2.734000	0.47368	0.412000	0.25729	0.655000	0.94253	GTG		0.662	AQP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405540.1	NM_000486		13	37	0	0	0	1	0	13	37					A	50344881	G	A	50344881	3	1	194	1	0	0	0	0	1	0	0	0	826	1145	40	1	270	1	AQP2	12	50344881	Missense_Mutation	SNP	G	TCGA-H9-A6BY-01A-11D-A30E-08	43790189	50344881	83507014	23	9008											
OR9K2	441639	broad.mit.edu	37	chr12	55524135	55524135	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	catttactttatctttttgcGcttctcgggctgttgaccac	5	18	7	11	2	2	1	0	1	2	0	3	1	2	1	1	1	2	3	1	1	2	8	rs77545847	byFrequency	TCGA-H9-A6BY-01A-11D-A30E-08	TCGA-H9-A6BY-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e25c1b9-c691-44c5-bc32-85ddca3e1196	57d5137e-6a41-4e03-a279-e4ee1cf06472	g.chr12:55524135G>A	ENST00000305377.5	+	1	671	c.583G>A	c.(583-585)Gct>Act	p.A195T		NM_001005243.1	NP_001005243.1	Q8NGE7	OR9K2_HUMAN	olfactory receptor, family 9, subfamily K, member 2	195						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|breast(3)|central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(2)	31						ATCTTTTTGCGCTTCTCGGGC	0.418													G|||	8	0.00159744	0	0	5008	,	,		19856	0.005		0.001	False		,,,				2504	0.002					ENST00000305377.5																			0				NS(2)|breast(3)|central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(2)	31						c.(583-585)Gct>Act		olfactory receptor, family 9, subfamily K, member 2		G	THR/ALA	3,4403	6.2+/-15.9	0,3,2200	148	137	141		583	4.1	1	12	dbSNP_131	141	5,8595	3.7+/-12.6	0,5,4295	yes	missense	OR9K2	NM_001005243.1	58	0,8,6495	AA,AG,GG		0.0581,0.0681,0.0615	probably-damaging	195/336	55524135	8,12998	2203	4300	6503	SO:0001583	missense	441639				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr12:55524135G>A	BK004326	CCDS31814.1	12q13.2	2012-08-09						"GPCR / Class A : Olfactory receptors"	15339	protein-coding gene	gene with protein product							Standard	NM_001005243		Approved		uc010spe.2	Q8NGE7	OTTHUMG00000169827	ENST00000305377.5:c.583G>A	12.37:g.55524135G>A	ENSP00000307598:p.Ala195Thr						p.A195T	NM_001005243.1	NP_001005243.1	Q8NGE7	OR9K2_HUMAN			1	671	+			195					B9EH19|Q6IFD6	Missense_Mutation	SNP	ENST00000305377.5	37	c.583G>A	CCDS31814.1	6	0.0027472527472527475	0	0.0	0	0.0	5	0.008741258741258742	1	0.0013192612137203166	G	14.86	2.662373	0.47572	6.81E-4	5.81E-4	ENSG00000170605	ENST00000305377	T	0.36699	1.24	4.98	4.06	0.47325	GPCR, rhodopsin-like superfamily (1);	0.253048	0.27881	N	0.017476	T	0.27063	0.0663	L	0.36672	1.1	0.27056	N	0.96367	B	0.33857	0.429	B	0.40228	0.323	T	0.27123	-1.0083	10	0.56958	D	0.05	-17.0645	13.6788	0.62472	0.0:0.0:0.8284:0.1716	.	195	Q8NGE7	OR9K2_HUMAN	T	195	ENSP00000307598:A195T	ENSP00000307598:A195T	A	+	1	0	OR9K2	53810402	0.999000	0.42202	0.997000	0.53966	0.819000	0.46315	2.814000	0.48010	1.387000	0.46486	0.650000	0.86243	GCT		0.418	OR9K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406105.1			24	70	0	0	0	1	0	24	70					A	55524135	G	A	55524135	3	1	194	1	0	0	0	0	1	0	0	0	11254	1087	38	1	585	1	OR9K2	12	55524135	Missense_Mutation	SNP	G	TCGA-H9-A6BY-01A-11D-A30E-08	5179254	55524135	78327760	24	9009											
C1QTNF9	338872	broad.mit.edu	37	chr13	24895797	24895797	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tgtcctgcagctgaagctcgGggatgaggtgtggctgcagg	6	9	18	8	1	0	2	0	2	0	0	2	3	1	3	1	5	4	5	1	5	1	0			TCGA-H9-A6BY-01A-11D-A30E-08	TCGA-H9-A6BY-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e25c1b9-c691-44c5-bc32-85ddca3e1196	57d5137e-6a41-4e03-a279-e4ee1cf06472	g.chr13:24895797G>A	ENST00000382071.2	+	4	978	c.893G>A	c.(892-894)gGg>gAg	p.G298E	C1QTNF9-AS1_ENST00000449656.1_RNA|C1QTNF9_ENST00000332018.4_Missense_Mutation_p.G298E|AL359736.1_ENST00000422229.2_5'Flank			P0C862	C1T9A_HUMAN	C1q and tumor necrosis factor related protein 9	298	C1q. {ECO:0000255|PROSITE- ProRule:PRU00368}.					collagen trimer (GO:0005581)|extracellular region (GO:0005576)				endometrium(1)|kidney(2)|lung(6)	9		all_cancers(29;3.55e-20)|all_epithelial(30;4.25e-17)|all_lung(29;1.04e-16)|Lung SC(185;0.0225)|Breast(139;0.052)		all cancers(112;0.00565)|Epithelial(112;0.027)|OV - Ovarian serous cystadenocarcinoma(117;0.115)|Lung(94;0.159)		CTGAAGCTCGGGGATGAGGTG	0.507																																						ENST00000382071.2																			0				endometrium(1)|kidney(2)|lung(6)	9						c.(892-894)gGg>gAg		C1q and tumor necrosis factor related protein 9							102	106	105					13																	24895797		2203	4300	6503	SO:0001583	missense	338872					collagen	hormone activity	g.chr13:24895797G>A	BC040438	CCDS9306.1	13q12.12	2010-08-18			ENSG00000240654	ENSG00000240654			28732	protein-coding gene	gene with protein product		614285				12975309, 18787108	Standard	NM_178540		Approved	MGC48915, CTRP9, C1QTNF9A, AQL1	uc001upj.3	P0C862	OTTHUMG00000016576	ENST00000382071.2:c.893G>A	13.37:g.24895797G>A	ENSP00000371503:p.Gly298Glu					C1QTNF9_ENST00000332018.4_Missense_Mutation_p.G298E	p.G298E			P0C862	C1T9A_HUMAN		all cancers(112;0.00565)|Epithelial(112;0.027)|OV - Ovarian serous cystadenocarcinoma(117;0.115)|Lung(94;0.159)	4	978	+		all_cancers(29;3.55e-20)|all_epithelial(30;4.25e-17)|all_lung(29;1.04e-16)|Lung SC(185;0.0225)|Breast(139;0.052)	298			C1q.		A2A3T6|Q0VGC5|Q5VX65|Q5VX66|Q8IUU4	Missense_Mutation	SNP	ENST00000382071.2	37	c.893G>A	CCDS9306.1	.	.	.	.	.	.	.	.	.	.	g	20.4	3.980211	0.74474	.	.	ENSG00000240654	ENST00000382071;ENST00000332018	D;D	0.82255	-1.59;-1.59	3.96	3.96	0.45880	Tumour necrosis factor-like (2);Complement C1q protein (4);	0.100850	0.64402	D	0.000002	D	0.90154	0.6923	M	0.78285	2.405	0.80722	D	1	D	0.76494	0.999	D	0.75020	0.985	D	0.90374	0.4383	10	0.44086	T	0.13	.	15.5078	0.75753	0.0:0.0:1.0:0.0	.	298	P0C862	C1T9A_HUMAN	E	298	ENSP00000371503:G298E;ENSP00000333737:G298E	ENSP00000333737:G298E	G	+	2	0	C1QTNF9	23793797	1.000000	0.71417	0.915000	0.36163	0.687000	0.40016	6.425000	0.73370	2.180000	0.69256	0.430000	0.28490	GGG		0.507	C1QTNF9-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044177.1	NM_178540		4	121	0	0	0	1	0	4	121					A	24895797	G	A	24895797	3	1	194	1	0	0	0	0	1	0	0	0	1970	1232	43	3	903	3	C1QTNF9	13	24895797	Missense_Mutation	SNP	G	TCGA-H9-A6BY-01A-11D-A30E-08		24895797	90274081	25	9010											
SLC10A2	6555	broad.mit.edu	37	chr13	103718522	103718522	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accacacttaggatgttattGaaattgctctcaggtaccac	12	12	7	10	0	1	1	1	1	1	0	2	2	1	2	2	2	2	3	2	2	4	5			TCGA-H9-A6BY-01A-11D-A30E-08	TCGA-H9-A6BY-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e25c1b9-c691-44c5-bc32-85ddca3e1196	57d5137e-6a41-4e03-a279-e4ee1cf06472	g.chr13:103718522G>T	ENST00000245312.3	-	1	674	c.78C>A	c.(76-78)ttC>ttA	p.F26L		NM_000452.2	NP_000443	Q12908	NTCP2_HUMAN	solute carrier family 10 (sodium/bile acid cotransporter), member 2	26					bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|integral component of plasma membrane (GO:0005887)|microvillus (GO:0005902)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|proteasome complex (GO:0000502)	bile acid:sodium symporter activity (GO:0008508)			breast(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_neural(89;0.0662)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)				Aciclovir(DB00787)|Cyclosporine(DB00091)|Ursodeoxycholic acid(DB01586)|Valaciclovir(DB00577)	GGATGTTATTGAAATTGCTCT	0.478																																						ENST00000245312.3																			0				breast(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						c.(76-78)ttC>ttA		solute carrier family 10 (sodium/bile acid cotransporter), member 2							169	160	163					13																	103718522		2203	4300	6503	SO:0001583	missense	6555				bile acid metabolic process|organic anion transport	integral to plasma membrane	bile acid:sodium symporter activity	g.chr13:103718522G>T	U10417	CCDS9506.1	13q33	2013-07-18	2013-07-18		ENSG00000125255	ENSG00000125255		"Solute carriers"	10906	protein-coding gene	gene with protein product		601295		ASBT, ISBT		8661017	Standard	NM_000452		Approved		uc001vpy.4	Q12908	OTTHUMG00000017313	ENST00000245312.3:c.78C>A	13.37:g.103718522G>T	ENSP00000245312:p.Phe26Leu						p.F26L	NM_000452.2	NP_000443.1	Q12908	NTCP2_HUMAN			1	674	-	all_neural(89;0.0662)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)		26					A1L4F4|Q13839	Missense_Mutation	SNP	ENST00000245312.3	37	c.78C>A	CCDS9506.1	.	.	.	.	.	.	.	.	.	.	G	9.970	1.225240	0.22457	.	.	ENSG00000125255	ENST00000245312	T	0.08282	3.11	5.67	4.82	0.62117	.	0.260600	0.45361	D	0.000368	T	0.05777	0.0151	L	0.34521	1.04	0.42303	D	0.992183	B	0.27229	0.172	B	0.18871	0.023	T	0.31696	-0.9934	10	0.11182	T	0.66	-8.9415	8.8035	0.34923	0.2379:0.0:0.7621:0.0	.	26	Q12908	NTCP2_HUMAN	L	26	ENSP00000245312:F26L	ENSP00000245312:F26L	F	-	3	2	SLC10A2	102516523	1.000000	0.71417	0.315000	0.25238	0.051000	0.14879	3.776000	0.55356	1.391000	0.46566	0.655000	0.94253	TTC		0.478	SLC10A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045716.1			7	133	1	0	0.000157383	1	0.000160469	7	133					T	103718522	G	T	103718522	3	4	194	1	0	0	0	0	1	0	0	0	14374	1281	45	5	992	5	SLC10A2	13	103718522	Missense_Mutation	SNP	G	TCGA-H9-A6BY-01A-11D-A30E-08	78822725	103718522	11451356	26	9011											
HCN4	10021	broad.mit.edu	37	chr15	73622050	73622050	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtcggacatgcccacgggcGcctgccgcccgtagccgatg	5	5	14	17	7	0	0	0	0	0	0	1	2	0	1	5	2	3	1	5	2	1	1			TCGA-H9-A6BY-01A-11D-A30E-08	TCGA-H9-A6BY-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e25c1b9-c691-44c5-bc32-85ddca3e1196	57d5137e-6a41-4e03-a279-e4ee1cf06472	g.chr15:73622050G>A	ENST00000261917.3	-	4	2447	c.1454C>T	c.(1453-1455)gCg>gTg	p.A485V		NM_005477.2	NP_005468.1	Q9Y3Q4	HCN4_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 4	485			A -> V (in SSS2; results in a significant reduction of current density compared to wild-type). {ECO:0000269|PubMed:20662977}.		blood circulation (GO:0008015)|cation transport (GO:0006812)|cellular response to cAMP (GO:0071320)|cellular response to cGMP (GO:0071321)|in utero embryonic development (GO:0001701)|muscle contraction (GO:0006936)|potassium ion transmembrane transport (GO:0071805)|regulation of heart rate (GO:0002027)|regulation of membrane potential (GO:0042391)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|plasma membrane (GO:0005886)|terminal bouton (GO:0043195)	cAMP binding (GO:0030552)|cation channel activity (GO:0005261)|identical protein binding (GO:0042802)|intracellular cAMP activated cation channel activity (GO:0005222)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated sodium channel activity (GO:0005248)			NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(13)|liver(1)|lung(18)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				COAD - Colon adenocarcinoma(1;0.142)		GCCCACGGGCGCCTGCCGCCC	0.622																																						ENST00000261917.3																			0				NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(13)|liver(1)|lung(18)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	55						c.(1453-1455)gCg>gTg		hyperpolarization activated cyclic nucleotide-gated potassium channel 4							77	73	74					15																	73622050		2198	4297	6495	SO:0001583	missense	10021				blood circulation|muscle contraction	integral to membrane	cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity	g.chr15:73622050G>A	AJ132429	CCDS10248.1	15q24.1	2011-07-05			ENSG00000138622	ENSG00000138622		"Voltage-gated ion channels / Cyclic nucleotide-regulated channels"	16882	protein-coding gene	gene with protein product		605206				10228147, 10430953, 16382102	Standard	NM_005477		Approved		uc002avp.3	Q9Y3Q4	OTTHUMG00000137563	ENST00000261917.3:c.1454C>T	15.37:g.73622050G>A	ENSP00000261917:p.Ala485Val						p.A485V	NM_005477.2	NP_005468.1	Q9Y3Q4	HCN4_HUMAN		COAD - Colon adenocarcinoma(1;0.142)	4	2447	-			485					Q9UMQ7	Missense_Mutation	SNP	ENST00000261917.3	37	c.1454C>T	CCDS10248.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.114303	0.77210	.	.	ENSG00000138622	ENST00000261917	D	0.98280	-4.84	4.31	4.31	0.51392	Ion transport (1);	.	.	.	.	D	0.98147	0.9388	L	0.60012	1.86	0.54753	D	0.999988	D	0.65815	0.995	P	0.57911	0.829	D	0.98563	1.0642	9	0.51188	T	0.08	.	16.7901	0.85586	0.0:0.0:1.0:0.0	.	485	Q9Y3Q4	HCN4_HUMAN	V	485	ENSP00000261917:A485V	ENSP00000261917:A485V	A	-	2	0	HCN4	71409103	1.000000	0.71417	0.990000	0.47175	0.693000	0.40251	9.695000	0.98691	2.105000	0.64084	0.561000	0.74099	GCG		0.622	HCN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268900.2	NM_005477		39	62	0	0	0	1	0	39	62					A	73622050	G	A	73622050	3	1	194	1	0	0	0	0	1	0	0	0	6999	1087	38	1	2177	1	HCN4	15	73622050	Missense_Mutation	SNP	G	TCGA-H9-A6BY-01A-11D-A30E-08		73622050	28909342	27	9012											
ACAN	176	broad.mit.edu	37	chr15	89398710	89398710	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ttctggagaagttctagagaCctctgcctctggagtaggag	9	11	13	8	0	4	2	0	0	4	2	4	6	4	4	2	3	1	2	2	3	3	4			TCGA-H9-A6BY-01A-11D-A30E-08	TCGA-H9-A6BY-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e25c1b9-c691-44c5-bc32-85ddca3e1196	57d5137e-6a41-4e03-a279-e4ee1cf06472	g.chr15:89398710C>T	ENST00000561243.1	+	11	2894	c.2894C>T	c.(2893-2895)aCc>aTc	p.T965I	ACAN_ENST00000559004.1_Missense_Mutation_p.T965I|ACAN_ENST00000439576.2_Missense_Mutation_p.T965I|ACAN_ENST00000352105.7_Missense_Mutation_p.T965I			P16112	PGCA_HUMAN	aggrecan	964	29 X 19 AA approximate tandem repeats of E-[IVDG]-[LV]-[EV]-[GTI]-[STA]-[ATV]- [SP]-[GA]-[VIFAD]-[GEDL]-[DE]-[LVI]-[SG]- [GERK]-[LV]-P-S-G.|CS-1.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)	carbohydrate binding (GO:0030246)|extracellular matrix structural constituent (GO:0005201)|hyaluronic acid binding (GO:0005540)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			GTTCTAGAGACCTCTGCCTCT	0.562																																						ENST00000439576.2																			0				NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93						c.(2893-2895)aCc>aTc		aggrecan							114	119	117					15																	89398710		1845	4095	5940	SO:0001583	missense	176				cell adhesion		hyaluronic acid binding|sugar binding	g.chr15:89398710C>T	M55172	CCDS53970.1, CCDS53971.1	15q26.1	2013-05-07	2007-02-16	2007-02-16	ENSG00000157766	ENSG00000157766		"Immunoglobulin superfamily / V-set domain containing", "Proteoglycans / Extracellular Matrix : Hyalectans"	319	protein-coding gene	gene with protein product	"aggrecan proteoglycan"	155760	"chondroitin sulfate proteoglycan 1", "aggrecan 1"	MSK16, CSPG1, AGC1		1985970	Standard	NM_013227		Approved	CSPGCP	uc010upo.1	P16112	OTTHUMG00000171989	ENST00000561243.1:c.2894C>T	15.37:g.89398710C>T	ENSP00000453342:p.Thr965Ile					ACAN_ENST00000561243.1_Missense_Mutation_p.T965I|ACAN_ENST00000559004.1_Missense_Mutation_p.T965I|ACAN_ENST00000352105.7_Missense_Mutation_p.T965I	p.T965I	NM_013227.3	NP_037359.3	E7EX88	E7EX88_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.146)		12	3268	+	Lung NSC(78;0.0392)|all_lung(78;0.077)		965					Q13650|Q9UCD3|Q9UCP4|Q9UCP5|Q9UDE0	Missense_Mutation	SNP	ENST00000561243.1	37	c.2894C>T	CCDS53970.1	.	.	.	.	.	.	.	.	.	.	C	8.735	0.917630	0.17982	.	.	ENSG00000157766	ENST00000439576;ENST00000352105;ENST00000268134	D;D	0.95001	-3.58;-3.58	4.47	0.341	0.15991	.	0.515296	0.14593	N	0.310144	D	0.83193	0.5201	N	0.04705	-0.18	0.09310	N	1	B;B	0.22003	0.063;0.063	B;B	0.26864	0.074;0.074	T	0.71609	-0.4541	10	0.18276	T	0.48	0.6281	4.3664	0.11227	0.0:0.463:0.1624:0.3746	.	965;965	E7ENV9;E7EX88	.;.	I	965	ENSP00000387356:T965I;ENSP00000341615:T965I	ENSP00000268134:T965I	T	+	2	0	ACAN	87199714	0.000000	0.05858	0.000000	0.03702	0.746000	0.42486	-0.162000	0.10012	-0.096000	0.12329	0.563000	0.77884	ACC		0.562	ACAN-006	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416267.2	NM_001135		5	226	0	0	0	1	0	5	226					T	89398710	C	T	89398710	3	4	194	1	0	0	0	0	1	0	0	0	117	507	18	3	2936	3	ACAN	15	89398710	Missense_Mutation	SNP	C	TCGA-H9-A6BY-01A-11D-A30E-08	15776660	89398710	13132682	28	9013											
CACNA1H	8912	broad.mit.edu	37	chr16	1259227	1259227	+	Frame_Shift_Del	DEL	G	G	-																															aggacggcagggccgcgcccGggccccgtgccaccccactg																										TCGA-H9-A6BY-01A-11D-A30E-08	TCGA-H9-A6BY-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e25c1b9-c691-44c5-bc32-85ddca3e1196	57d5137e-6a41-4e03-a279-e4ee1cf06472	g.chr16:1259227delG	ENST00000348261.5	+	17	3807	c.3559delG	c.(3559-3561)gggfs	p.G1187fs	CACNA1H_ENST00000565831.1_Frame_Shift_Del_p.G1187fs|CACNA1H_ENST00000358590.4_Frame_Shift_Del_p.G1187fs|RP11-616M22.3_ENST00000564700.1_RNA	NM_021098.2	NP_066921.2	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type, alpha 1H subunit	1187					aldosterone biosynthetic process (GO:0032342)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|cellular response to hormone stimulus (GO:0032870)|cellular response to potassium ion (GO:0035865)|cortisol biosynthetic process (GO:0034651)|membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|myoblast fusion (GO:0007520)|positive regulation of acrosome reaction (GO:2000344)|regulation of heart contraction (GO:0008016)|regulation of membrane potential (GO:0042391)|transport (GO:0006810)	caveola (GO:0005901)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|voltage-gated calcium channel complex (GO:0005891)	low voltage-gated calcium channel activity (GO:0008332)|metal ion binding (GO:0046872)|scaffold protein binding (GO:0097110)			breast(4)|endometrium(5)|kidney(2)|lung(23)	34		Hepatocellular(780;0.00369)			Amiodarone(DB01118)|Bepridil(DB01244)|Cinnarizine(DB00568)|Felodipine(DB01023)|Flunarizine(DB04841)|Isradipine(DB00270)|Nifedipine(DB01115)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Zonisamide(DB00909)	GGCCGCGCCCGGGCCCCGTGC	0.761																																						ENST00000348261.5																			0				breast(4)|endometrium(5)|kidney(2)|lung(23)	34						c.(3559-3561)ggfs		calcium channel, voltage-dependent, T type, alpha 1H subunit	Flunarizine(DB04841)|Mibefradil(DB01388)						3	4	4					16																	1259227		1570	3470	5040	SO:0001589	frameshift_variant	8912				aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity	g.chr16:1259227delG	AL031703	CCDS45375.1, CCDS45376.1	16p13.3	2012-03-07	2007-02-16					"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1395	protein-coding gene	gene with protein product		607904				9670923, 16382099	Standard	NM_021098		Approved	Cav3.2	uc002cks.3	O95180		ENST00000348261.5:c.3559delG	16.37:g.1259227delG	ENSP00000334198:p.Gly1187fs					CACNA1H_ENST00000358590.4_Frame_Shift_Del_p.G1187fs|CACNA1H_ENST00000565831.1_Frame_Shift_Del_p.G1187fs	p.G1187fs	NM_021098.2	NP_066921.2	O95180	CAC1H_HUMAN			17	3807	+		Hepatocellular(780;0.00369)	1187					B5ME00|F8WFD1|O95802|Q8WWI6|Q96QI6|Q96RZ9|Q9NYY4|Q9NYY5	Frame_Shift_Del	DEL	ENST00000348261.5	37	c.3559delG	CCDS45375.1																																																																																				0.761	CACNA1H-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000421601.1	NM_001005407		2	4						2	4	---	---	---	---	-	1259227	G	-	1259227	7	5	194	1	0	1	0	1	0	0	0	0	2545	1116	39	0	3621	0	CACNA1H	16	1259227	Frame_Shift_Del	DEL	G	TCGA-H9-A6BY-01A-11D-A30E-08		1259227	89095526	29	9014											
TMC7	79905	broad.mit.edu	37	chr16	19041626	19041626	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagaacttcacctatgatctGcccctggcgtatttgttaag	9	13	8	11	1	2	2	1	1	1	1	2	2	2	2	3	1	2	2	3	1	4	5			TCGA-H9-A6BY-01A-11D-A30E-08	TCGA-H9-A6BY-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e25c1b9-c691-44c5-bc32-85ddca3e1196	57d5137e-6a41-4e03-a279-e4ee1cf06472	g.chr16:19041626G>A	ENST00000304381.5	+	6	922	c.792G>A	c.(790-792)ctG>ctA	p.L264L	TMC7_ENST00000569532.1_Silent_p.L264L|TMC7_ENST00000421369.3_Silent_p.L154L	NM_024847.3	NP_079123.3	Q7Z402	TMC7_HUMAN	transmembrane channel-like 7	264					ion transport (GO:0006811)	integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	28						CCTATGATCTGCCCCTGGCGT	0.468																																						ENST00000421369.3																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	28						c.(460-462)ctG>ctA		transmembrane channel-like 7							123	109	113					16																	19041626		2197	4300	6497	SO:0001819	synonymous_variant	79905					integral to membrane		g.chr16:19041626G>A	AY263165	CCDS10573.1, CCDS53992.1, CCDS73837.1	16p13.11	2008-02-05			ENSG00000170537	ENSG00000170537			23000	protein-coding gene	gene with protein product						12812529, 12906855	Standard	XM_005255597		Approved	FLJ21240	uc002dfq.3	Q7Z402	OTTHUMG00000131456	ENST00000304381.5:c.792G>A	16.37:g.19041626G>A						TMC7_ENST00000304381.5_Silent_p.L264L|TMC7_ENST00000569532.1_Silent_p.L264L	p.L154L	NM_001160364.1	NP_001153836.1	Q7Z402	TMC7_HUMAN			6	1020	+			264					E7ERB6|Q5H9Q8|Q7Z5M4|Q86WX0|Q9H766	Silent	SNP	ENST00000304381.5	37	c.462G>A	CCDS10573.1																																																																																				0.468	TMC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254276.3	NM_024847		36	63	0	0	0	1	0	36	63					A	19041626	G	A	19041626	2	1	194	1	0	0	0	0	0	0	0	1	15987	1306	46	3		3	TMC7	16	19041626	Silent	SNP	G	TCGA-H9-A6BY-01A-11D-A30E-08	17782399	19041626	71313127	30	9015											
NDRG4	65009	broad.mit.edu	37	chr16	58545390	58545390	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tccctcaccagtgccagctcGgtggatggcagccgcccaca	7	6	11	17	2	1	0	1	0	0	0	3	1	2	1	5	3	3	2	5	3	0	0	rs199672622		TCGA-H9-A6BY-01A-11D-A30E-08	TCGA-H9-A6BY-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e25c1b9-c691-44c5-bc32-85ddca3e1196	57d5137e-6a41-4e03-a279-e4ee1cf06472	g.chr16:58545390G>A	ENST00000570248.1	+	15	1075	c.969G>A	c.(967-969)tcG>tcA	p.S323S	NDRG4_ENST00000566192.1_Silent_p.S310S|NDRG4_ENST00000394282.4_Silent_p.S362S|NDRG4_ENST00000569923.1_Silent_p.S255S|NDRG4_ENST00000394279.2_Silent_p.S342S|NDRG4_ENST00000258187.5_Silent_p.S342S|NDRG4_ENST00000356752.4_Silent_p.S340S|NDRG4_ENST00000568640.1_Silent_p.S328S|NDRG4_ENST00000563799.1_Silent_p.S328S|NDRG4_ENST00000562999.1_Silent_p.S298S	NM_001242835.1	NP_001229764.1	Q9ULP0	NDRG4_HUMAN	NDRG family member 4	323					cell differentiation (GO:0030154)|cell growth (GO:0016049)|response to stress (GO:0006950)	cytoplasm (GO:0005737)				breast(1)|endometrium(3)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	11						GTGCCAGCTCGGTGGATGGCA	0.657													G|||	1	0.000199681	0	0	5008	,	,		15979	0		0.001	False		,,,				2504	0					ENST00000394282.4																			0				breast(1)|endometrium(3)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	11						c.(1084-1086)tcG>tcA		NDRG family member 4		G	,,,,,,	0,4396		0,0,2198	63	59	61		1086,1020,984,969,930,1026,1026	-9.1	0.7	16		61	1,8597	1.2+/-3.3	0,1,4298	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	NDRG4	NM_001130487.1,NM_001242833.1,NM_001242834.1,NM_001242835.1,NM_001242836.1,NM_020465.3,NM_022910.3	,,,,,,	0,1,6496	AA,AG,GG		0.0116,0.0,0.0077	,,,,,,	362/392,340/370,328/358,323/353,310/340,342/372,342/372	58545390	1,12993	2198	4299	6497	SO:0001819	synonymous_variant	65009				cell differentiation|cell growth|multicellular organismal development|response to stress	cytoplasm		g.chr16:58545390G>A	AB044947	CCDS10797.1, CCDS45500.1, CCDS55999.1, CCDS58465.1, CCDS58466.1, CCDS58467.1	16q21-q22.3	2008-07-04			ENSG00000103034	ENSG00000103034			14466	protein-coding gene	gene with protein product		614463				11352569, 16408304	Standard	NM_020465		Approved	KIAA1180, SMAP-8	uc002enk.3	Q9ULP0	OTTHUMG00000133485	ENST00000570248.1:c.969G>A	16.37:g.58545390G>A						NDRG4_ENST00000569923.1_Silent_p.S255S|NDRG4_ENST00000568640.1_Silent_p.S328S|NDRG4_ENST00000356752.4_Silent_p.S340S|NDRG4_ENST00000562999.1_Silent_p.S298S|NDRG4_ENST00000566192.1_Silent_p.S310S|NDRG4_ENST00000563799.1_Silent_p.S328S|NDRG4_ENST00000570248.1_Silent_p.S323S|NDRG4_ENST00000394279.2_Silent_p.S342S|NDRG4_ENST00000258187.5_Silent_p.S342S	p.S362S	NM_001130487.1	NP_001123959.1	Q9ULP0	NDRG4_HUMAN			16	1493	+			323					B3KNU2|B4DK66|B4DSW5|H7C600|Q6ZNE7|Q6ZTI7|Q96PL9|Q9GZM1|Q9GZN3|Q9GZX0	Silent	SNP	ENST00000570248.1	37	c.1086G>A	CCDS58466.1																																																																																				0.657	NDRG4-009	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000422671.2			4	136	0	0	0	1	0	4	136					A	58545390	G	A	58545390	2	1	194	1	0	0	0	0	0	0	0	1	10254	1103	39	2		2	NDRG4	16	58545390	Silent	SNP	G	TCGA-H9-A6BY-01A-11D-A30E-08	39503764	58545390	31809363	31	9016											
CCDC144A	9720	broad.mit.edu	37	chr17	16593777	16593777	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tctccgaagccggcagtctaCgccacgaggaagacccctag	10	5	11	15	4	2	1	0	0	2	1	3	4	2	2	5	2	2	1	5	2	4	2			TCGA-H9-A6BY-01A-11D-A30E-08	TCGA-H9-A6BY-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e25c1b9-c691-44c5-bc32-85ddca3e1196	57d5137e-6a41-4e03-a279-e4ee1cf06472	g.chr17:16593777C>T	ENST00000360524.8	+	1	139	c.63C>T	c.(61-63)taC>taT	p.Y21Y	CCDC144A_ENST00000399273.1_Silent_p.Y21Y|CCDC144A_ENST00000340621.5_Silent_p.Y21Y|CCDC144A_ENST00000456009.1_Silent_p.Y21Y|RP11-219A15.1_ENST00000448331.3_Silent_p.Y21Y|CCDC144A_ENST00000436374.1_3'UTR|CCDC144A_ENST00000443444.2_Silent_p.Y21Y|RNU6-405P_ENST00000516637.1_RNA	NM_014695.1	NP_055510.1	A2RUR9	C144A_HUMAN	coiled-coil domain containing 144A	21																	CGGCAGTCTACGCCACGAGGA	0.667																																						ENST00000443444.2																			0											c.(61-63)taC>taT		coiled-coil domain containing 144A							24	27	26					17																	16593777		2202	4300	6502	SO:0001819	synonymous_variant	9720							g.chr17:16593777C>T	BC133019	CCDS45621.1	17p11.2	2008-10-23			ENSG00000170160	ENSG00000170160			29072	protein-coding gene	gene with protein product						9628581, 11997339	Standard	NM_014695		Approved	KIAA0565, FLJ43983	uc002gqk.1	A2RUR9	OTTHUMG00000059178	ENST00000360524.8:c.63C>T	17.37:g.16593777C>T						CCDC144A_ENST00000436374.1_3'UTR|CCDC144A_ENST00000340621.5_Silent_p.Y21Y|RP11-219A15.1_ENST00000448331.3_Silent_p.Y21Y|CCDC144A_ENST00000360524.8_Silent_p.Y21Y|CCDC144A_ENST00000456009.1_Silent_p.Y21Y|CCDC144A_ENST00000399273.1_Silent_p.Y21Y	p.Y21Y			A2RUR9	C144A_HUMAN			1	203	+			21					O60311|Q6ZU57	Silent	SNP	ENST00000360524.8	37	c.63C>T	CCDS45621.1																																																																																				0.667	CCDC144A-013	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000444093.1			18	27	0	0	0	1	0	18	27					T	16593777	C	T	16593777	2	4	194	1	0	0	0	0	0	0	0	1	2777	547	19	1		1	CCDC144A	17	16593777	Silent	SNP	C	TCGA-H9-A6BY-01A-11D-A30E-08		16593777	64601433	32	9017											
TMC6	11322	broad.mit.edu	37	chr17	76117241	76117241	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctcctggccagcagcctctGgactctgcaggggtgcaggg	5	7	15	14	0	2	0	0	0	2	0	3	1	3	1	4	5	4	3	4	5	0	0			TCGA-H9-A6BY-01A-11D-A30E-08	TCGA-H9-A6BY-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e25c1b9-c691-44c5-bc32-85ddca3e1196	57d5137e-6a41-4e03-a279-e4ee1cf06472	g.chr17:76117241G>A	ENST00000590602.1	-	12	1547	c.1388C>T	c.(1387-1389)cCa>cTa	p.P463L	TMC6_ENST00000592076.1_Intron|TMC6_ENST00000591436.1_Missense_Mutation_p.P102L|TMC6_ENST00000589553.1_Missense_Mutation_p.P236L|TMC6_ENST00000306591.7_Intron|TMC6_ENST00000322914.3_Missense_Mutation_p.P463L|TMC6_ENST00000392467.3_Missense_Mutation_p.P463L|TMC6_ENST00000322933.4_Missense_Mutation_p.P102L			Q7Z403	TMC6_HUMAN	transmembrane channel-like 6	463					ion transport (GO:0006811)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965)				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	14			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)			AGCAGCCTCTGGACTCTGCAG	0.697																																						ENST00000590602.1																			0				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	14						c.(1387-1389)cCa>cTa		transmembrane channel-like 6							11	13	12					17																	76117241		2188	4277	6465	SO:0001583	missense	11322					endoplasmic reticulum membrane|integral to membrane		g.chr17:76117241G>A	AY057379	CCDS32748.1	17q25.3	2014-09-17	2005-11-10	2005-11-10	ENSG00000141524	ENSG00000141524			18021	protein-coding gene	gene with protein product		605828	"epidermodysplasia verruciformis 1"	EVER1		12426567	Standard	NM_007267		Approved	LAK-4P, EVIN1	uc002juk.2	Q7Z403	OTTHUMG00000177466	ENST00000590602.1:c.1388C>T	17.37:g.76117241G>A	ENSP00000465261:p.Pro463Leu					TMC6_ENST00000306591.7_Intron|TMC6_ENST00000392467.3_Missense_Mutation_p.P463L|TMC6_ENST00000592076.1_Intron|TMC6_ENST00000589553.1_Missense_Mutation_p.P236L|TMC6_ENST00000591436.1_Missense_Mutation_p.P102L|TMC6_ENST00000322933.4_Missense_Mutation_p.P102L|TMC6_ENST00000322914.3_Missense_Mutation_p.P463L	p.P463L			Q7Z403	TMC6_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)		12	1547	-			463					O43284|Q45VJ2|Q8IU98|Q8IUI7|Q8IWU8|Q8TEQ7|Q9HAG5	Missense_Mutation	SNP	ENST00000590602.1	37	c.1388C>T	CCDS32748.1	.	.	.	.	.	.	.	.	.	.	G	4.398	0.073541	0.08485	.	.	ENSG00000141524	ENST00000322914;ENST00000392467;ENST00000322933	T;T;T	0.70399	0.79;0.79;-0.48	3.61	-5.05	0.02955	.	3.618910	0.01052	U	0.004482	T	0.50922	0.1644	N	0.21142	0.635	0.09310	N	1	B;B;B;B	0.06786	0.001;0.0;0.0;0.0	B;B;B;B	0.04013	0.001;0.001;0.001;0.001	T	0.23547	-1.0185	10	0.26408	T	0.33	-16.0668	3.7314	0.08495	0.0897:0.1158:0.3934:0.4011	.	236;463;463;102	Q7Z403-4;B3KTU5;Q7Z403;Q7Z403-3	.;.;TMC6_HUMAN;.	L	463;463;102	ENSP00000313408:P463L;ENSP00000376260:P463L;ENSP00000313479:P102L	ENSP00000313408:P463L	P	-	2	0	TMC6	73628836	0.005000	0.15991	0.000000	0.03702	0.035000	0.12851	0.357000	0.20199	-0.720000	0.04935	-0.448000	0.05591	CCA		0.697	TMC6-007	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437146.1			6	15	0	0	0	1	0	6	15					A	76117241	G	A	76117241	3	1	194	1	0	0	0	0	1	0	0	0	15986	1348	47	3	1065	3	TMC6	17	76117241	Missense_Mutation	SNP	G	TCGA-H9-A6BY-01A-11D-A30E-08	59523464	76117241	5077969	33	9018											
DNAH17	8632	broad.mit.edu	37	chr17	76435207	76435207	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgtcctttctctgcagccaCgtccagggcgttctcagcca	5	11	10	15	2	2	0	1	0	2	0	6	0	4	0	4	1	3	2	4	1	0	2			TCGA-H9-A6BY-01A-11D-A30E-08	TCGA-H9-A6BY-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e25c1b9-c691-44c5-bc32-85ddca3e1196	57d5137e-6a41-4e03-a279-e4ee1cf06472	g.chr17:76435207C>T	ENST00000585328.1	-	73	11879	c.11755G>A	c.(11755-11757)Gtg>Atg	p.V3919M	DNAH17_ENST00000389840.5_Missense_Mutation_p.V3910M|DNAH17_ENST00000586052.1_5'UTR	NM_173628.3	NP_775899.3	Q9UFH2	DYH17_HUMAN	dynein, axonemal, heavy chain 17	3910	AAA 6. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			TCTGCAGCCACGTCCAGGGCG	0.562																																						ENST00000389840.5																			0				NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116						c.(11728-11730)Gtg>Atg		dynein, axonemal, heavy chain 17							74	58	63					17																	76435207		2203	4300	6503	SO:0001583	missense	8632							g.chr17:76435207C>T	AJ000522		17q25.3	2012-04-19	2006-09-04		ENSG00000187775	ENSG00000187775		"Axonemal dyneins"	2946	protein-coding gene	gene with protein product		610063	"dynein, axonemal, heavy polypeptide 17", "dynein, axonemal, heavy chain like 1", "dynein, axonemal, heavy like 1"	DNAHL1		9545504	Standard	NM_173628		Approved	DNEL2, FLJ40457	uc010dhp.2	Q9UFH2		ENST00000585328.1:c.11755G>A	17.37:g.76435207C>T	ENSP00000465516:p.Val3919Met					DNAH17_ENST00000586052.1_5'UTR|DNAH17_ENST00000585328.1_Missense_Mutation_p.V3919M	p.V3910M					BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)		73	11852	-								O00431|O15206|Q2M2Y1|Q6ZRQ2|Q8N7Q7	Missense_Mutation	SNP	ENST00000585328.1	37	c.11728G>A		.	.	.	.	.	.	.	.	.	.	C	5.486	0.274753	0.10403	.	.	ENSG00000187775	ENST00000300671;ENST00000389840	T	0.08634	3.07	5.35	4.38	0.52667	.	0.116944	0.38164	N	0.001800	T	0.08313	0.0207	L	0.41710	1.295	0.27769	N	0.943553	B	0.19073	0.033	B	0.19391	0.025	T	0.13845	-1.0494	10	0.44086	T	0.13	.	10.1198	0.42614	0.0:0.8447:0.0:0.1553	.	3919	E7EUM8	.	M	3919;3910	ENSP00000374490:V3910M	ENSP00000300671:V3919M	V	-	1	0	DNAH17	73946802	0.000000	0.05858	0.920000	0.36463	0.167000	0.22549	-1.047000	0.03521	1.249000	0.43950	0.650000	0.86243	GTG		0.562	DNAH17-001	PUTATIVE	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000318962.2	NM_173628		4	37	0	0	0	1	0	4	37					T	76435207	C	T	76435207	3	4	194	1	0	0	0	0	1	0	0	0	4601	536	19	1	1654	1	DNAH17	17	76435207	Missense_Mutation	SNP	C	TCGA-H9-A6BY-01A-11D-A30E-08	317966	76435207	4760003	34	9019											
ZNF397OS	100101467	broad.mit.edu	37	chr18	32843993	32843993	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctctggccgatgctctcgCagccaagcttgcagctcctc	5	11	9	16	2	2	0	0	0	2	0	6	1	3	0	3	1	5	5	3	1	1	2			TCGA-H9-A6BY-01A-11D-A30E-08	TCGA-H9-A6BY-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e25c1b9-c691-44c5-bc32-85ddca3e1196	57d5137e-6a41-4e03-a279-e4ee1cf06472	g.chr18:32843993C>T	ENST00000420878.3	-	3	779	c.324G>A	c.(322-324)ctG>ctA	p.L108L	ZSCAN30_ENST00000333206.5_Silent_p.L108L|ZSCAN30_ENST00000592278.1_Silent_p.L108L|ZNF397_ENST00000589420.1_Intron|ZSCAN30_ENST00000589178.1_Silent_p.L108L|ZSCAN30_ENST00000383091.2_Silent_p.L108L|ZSCAN30_ENST00000601405.1_Intron	NM_001166012.1	NP_001159484.1	Q86W11	ZSC30_HUMAN	zinc finger and SCAN domain containing 30	108	SCAN box. {ECO:0000255|PROSITE- ProRule:PRU00187}.				transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			large_intestine(5)|lung(3)|urinary_tract(1)	9						GATGCTCTCGCAGCCAAGCTT	0.547																																						ENST00000420878.3																			0				large_intestine(5)|lung(3)|urinary_tract(1)	9						c.(322-324)ctG>ctA		zinc finger and SCAN domain containing 30							60	57	58					18																	32843993		1568	3582	5150	SO:0001819	synonymous_variant	100101467				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr18:32843993C>T	AY234408	CCDS42427.1, CCDS74207.1	18q12.2	2013-01-08	2010-07-23	2010-07-23	ENSG00000186814	ENSG00000186814		"-", "Zinc fingers, C2H2-type"	33517	protein-coding gene	gene with protein product			"zinc finger protein 397 opposite strand", "ZNF397 opposite strand"	ZNF397OS		12801647	Standard	NM_001166012		Approved	ZNF917	uc002kym.3	Q86W11		ENST00000420878.3:c.324G>A	18.37:g.32843993C>T						ZSCAN30_ENST00000333206.5_Silent_p.L108L|ZNF397_ENST00000589420.1_Intron|ZSCAN30_ENST00000601405.1_Intron|ZSCAN30_ENST00000592278.1_Silent_p.L108L|ZSCAN30_ENST00000383091.2_Silent_p.L108L|ZSCAN30_ENST00000589178.1_Silent_p.L108L	p.L108L	NM_001166012.1	NP_001159484.1	Q86W11	ZSC30_HUMAN			3	779	-			108			SCAN box.		B4E0N0|Q6ZNB3|Q96PN3	Silent	SNP	ENST00000420878.3	37	c.324G>A	CCDS42427.1																																																																																				0.547	ZSCAN30-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442510.1	NM_001112734		5	96	0	0	0	1	0	5	96					T	32843993	C	T	32843993	2	4	194	1	0	0	0	0	0	0	0	1	17881	697	25	3		3	ZNF397OS	18	32843993	Silent	SNP	C	TCGA-H9-A6BY-01A-11D-A30E-08		32843993	45233255	35	9020											
PTPRA	5786	broad.mit.edu	37	chr20	3017847	3017847	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtgccctgagcaccgtccTggagcgtgtgaaagcagagg	8	7	15	11	2	0	3	0	2	0	1	1	4	1	4	3	2	4	2	3	2	1	0			TCGA-H9-A6BY-01A-11D-A30E-08	TCGA-H9-A6BY-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e25c1b9-c691-44c5-bc32-85ddca3e1196	57d5137e-6a41-4e03-a279-e4ee1cf06472	g.chr20:3017847T>A	ENST00000216877.6	+	22	2619	c.2219T>A	c.(2218-2220)cTg>cAg	p.L740Q	PTPRA_ENST00000425918.2_Missense_Mutation_p.L760Q|PTPRA_ENST00000358719.4_Missense_Mutation_p.L605Q|PTPRA_ENST00000399903.2_Missense_Mutation_p.L749Q|PTPRA_ENST00000356147.3_Missense_Mutation_p.L740Q|PTPRA_ENST00000318266.5_Missense_Mutation_p.L740Q|PTPRA_ENST00000380393.3_Missense_Mutation_p.L749Q	NM_080840.2	NP_543030.1	P18433	PTPRA_HUMAN	protein tyrosine phosphatase, receptor type, A	749	Tyrosine-protein phosphatase 2. {ECO:0000255|PROSITE-ProRule:PRU00160}.				axon guidance (GO:0007411)|insulin receptor signaling pathway (GO:0008286)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein phosphorylation (GO:0006468)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(1)|endometrium(3)|large_intestine(3)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						AGCACCGTCCTGGAGCGTGTG	0.592																																						ENST00000216877.6																			0				NS(1)|breast(1)|endometrium(3)|large_intestine(3)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						c.(2218-2220)cTg>cAg		protein tyrosine phosphatase, receptor type, A							126	101	109					20																	3017847		2203	4300	6503	SO:0001583	missense	0				axon guidance|protein phosphorylation	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity	g.chr20:3017847T>A		CCDS13038.1, CCDS13039.1	20p13	2011-06-09			ENSG00000132670	ENSG00000132670		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"	9664	protein-coding gene	gene with protein product		176884		PTPRL2, PTPA		2172030, 2169617	Standard	NM_080840		Approved	LRP, HLPR, HPTPA, RPTPA	uc002whn.3	P18433	OTTHUMG00000031718	ENST00000216877.6:c.2219T>A	20.37:g.3017847T>A	ENSP00000216877:p.Leu740Gln					PTPRA_ENST00000356147.3_Missense_Mutation_p.L740Q|PTPRA_ENST00000425918.2_Missense_Mutation_p.L760Q|PTPRA_ENST00000380393.3_Missense_Mutation_p.L749Q|PTPRA_ENST00000358719.4_Missense_Mutation_p.L605Q|PTPRA_ENST00000318266.5_Missense_Mutation_p.L740Q|PTPRA_ENST00000399903.2_Missense_Mutation_p.L749Q	p.L740Q	NM_080840.2	NP_543030.1	P18433	PTPRA_HUMAN			22	2619	+			749			Tyrosine-protein phosphatase 2.		A8K2G8|D3DVX5|Q14513|Q7Z2I2|Q96TD9	Missense_Mutation	SNP	ENST00000216877.6	37	c.2219T>A	CCDS13039.1	.	.	.	.	.	.	.	.	.	.	T	32	5.177536	0.94846	.	.	ENSG00000132670	ENST00000380393;ENST00000216877;ENST00000399903;ENST00000358719;ENST00000542217;ENST00000425918;ENST00000318266;ENST00000356147	D;D;D;D;D;D;D	0.86432	-2.12;-2.12;-2.12;-2.12;-2.12;-2.12;-2.12	5.91	5.91	0.95273	Protein-tyrosine phosphatase, receptor/non-receptor type (3);Protein-tyrosine/Dual-specificity phosphatase (1);	0.000000	0.64402	U	0.000006	D	0.94722	0.8297	M	0.90425	3.115	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;0.998	D	0.95580	0.8645	10	0.87932	D	0	.	16.3531	0.83224	0.0:0.0:0.0:1.0	.	760;749;740	B7Z2A4;P18433;P18433-4	.;PTPRA_HUMAN;.	Q	749;740;749;605;359;760;740;740	ENSP00000369756:L749Q;ENSP00000216877:L740Q;ENSP00000382787:L749Q;ENSP00000351559:L605Q;ENSP00000393553:L760Q;ENSP00000314568:L740Q;ENSP00000348468:L740Q	ENSP00000216877:L740Q	L	+	2	0	PTPRA	2965847	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.983000	0.88140	2.255000	0.74692	0.528000	0.53228	CTG		0.592	PTPRA-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077682.3			38	76	0	0	0	1	0	38	76					A	3017847	T	A	3017847	3	1	194	1	0	0	0	0	1	0	0	0	12795	1580	55	5	2324	5	PTPRA	20	3017847	Missense_Mutation	SNP	T	TCGA-H9-A6BY-01A-11D-A30E-08		3017847	60007673	36	9021											
SBF1	6305	broad.mit.edu	37	chr22	50900484	50900484	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gaccacagccccagctacgtCgcaggtctctgcatcctcga	8	7	9	17	3	1	0	0	0	1	0	5	2	2	0	4	1	4	3	4	1	1	1			TCGA-H9-A6BY-01A-11D-A30E-08	TCGA-H9-A6BY-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e25c1b9-c691-44c5-bc32-85ddca3e1196	57d5137e-6a41-4e03-a279-e4ee1cf06472	g.chr22:50900484C>T	ENST00000390679.3	-	20	2645	c.2461G>A	c.(2461-2463)Gac>Aac	p.D821N	SBF1_ENST00000348911.6_Missense_Mutation_p.D822N|SBF1_ENST00000380817.3_Missense_Mutation_p.D821N			O95248	MTMR5_HUMAN	SET binding factor 1	821					cell death (GO:0008219)|positive regulation of Rab GTPase activity (GO:0032851)|protein dephosphorylation (GO:0006470)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	protein tyrosine/serine/threonine phosphatase activity (GO:0008138)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(8)|large_intestine(3)|lung(18)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	43		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)		CCAGCTACGTCGCAGGTCTCT	0.617																																						ENST00000380817.2																			0				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(8)|large_intestine(3)|lung(18)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	43						c.(2461-2463)Gac>Aac		SET binding factor 1							104	120	115					22																	50900484		2142	4220	6362	SO:0001583	missense	6305				protein dephosphorylation	integral to membrane|nucleus	protein tyrosine/serine/threonine phosphatase activity	g.chr22:50900484C>T	U93181	CCDS14091.1, CCDS14091.2	22q13.33	2013-01-10			ENSG00000100241	ENSG00000100241		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins", "DENN/MADD domain containing", "Pleckstrin homology (PH) domain containing"	10542	protein-coding gene	gene with protein product	"myotubularin related 5", "DENN/MADD domain containing 7A"	603560				9537414, 9736772	Standard	NM_002972		Approved	MTMR5, DENND7A	uc003blh.3	O95248	OTTHUMG00000150204	ENST00000390679.3:c.2461G>A	22.37:g.50900484C>T	ENSP00000375097:p.Asp821Asn					SBF1_ENST00000390679.3_Missense_Mutation_p.D821N|SBF1_ENST00000348911.6_Missense_Mutation_p.D822N	p.D821N	NM_002972.2	NP_002963.2	O95248	MTMR5_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)	20	2644	-		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)	821					A6PVG9|O60228|Q5JXD8|Q5PPM2|Q96GR9|Q9UGB8	Missense_Mutation	SNP	ENST00000390679.3	37	c.2461G>A		.	.	.	.	.	.	.	.	.	.	C	15.80	2.939981	0.52972	.	.	ENSG00000100241	ENST00000380817;ENST00000348911;ENST00000356279;ENST00000337034;ENST00000390679	D;D;D	0.89123	-2.47;-2.41;-2.41	4.17	3.13	0.36017	.	0.000000	0.85682	D	0.000000	D	0.92315	0.7562	L	0.60455	1.87	0.58432	D	0.999998	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.987;0.998;0.996	D	0.91866	0.5503	10	0.52906	T	0.07	.	12.9727	0.58522	0.1632:0.8368:0.0:0.0	.	821;822;821	O95248;G5E933;O95248-4	MTMR5_HUMAN;.;.	N	821;822;832;831;821	ENSP00000370196:D821N;ENSP00000252027:D822N;ENSP00000375097:D821N	ENSP00000336522:D831N	D	-	1	0	SBF1	49247350	1.000000	0.71417	0.062000	0.19696	0.001000	0.01503	7.419000	0.80179	0.960000	0.38005	-0.169000	0.13324	GAC		0.617	SBF1-201	KNOWN	basic	protein_coding	protein_coding				63	158	0	0	0	1	0	63	158					T	50900484	C	T	50900484	3	4	194	1	0	0	0	0	1	0	0	0	13858	884	31	2	3308	2	SBF1	22	50900484	Missense_Mutation	SNP	C	TCGA-H9-A6BY-01A-11D-A30E-08		50900484	404082	37	9022											
FAAH2	158584	broad.mit.edu	37	chrX	57458438	57458438	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	actcttttcagttgtggatcGcaatgatgtcagcaaaggga	11	12	11	7	1	3	1	2	1	1	0	4	3	3	3	0	2	1	3	0	2	2	3	rs138462668	byFrequency	TCGA-H9-A6BY-01A-11D-A30E-08	TCGA-H9-A6BY-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e25c1b9-c691-44c5-bc32-85ddca3e1196	57d5137e-6a41-4e03-a279-e4ee1cf06472	g.chrX:57458438G>A	ENST00000374900.4	+	8	1204	c.1084G>A	c.(1084-1086)Gca>Aca	p.A362T	FAAH2_ENST00000491179.1_3'UTR	NM_174912.3	NP_777572.2	Q6GMR7	FAAH2_HUMAN	fatty acid amide hydrolase 2	362						integral component of membrane (GO:0016021)	carbon-nitrogen ligase activity, with glutamine as amido-N-donor (GO:0016884)|hydrolase activity (GO:0016787)			endometrium(2)|large_intestine(4)|lung(10)|ovary(3)|upper_aerodigestive_tract(3)	22						GTTGTGGATCGCAATGATGTC	0.348										HNSCC(52;0.14)			G|||	2	0.000529801	0	0.0014	3775	,	,		12196	0		0.001	False		,,,				2504	0					ENST00000374900.4																			0				endometrium(2)|large_intestine(4)|lung(10)|ovary(3)|upper_aerodigestive_tract(3)	22						c.(1084-1086)Gca>Aca		fatty acid amide hydrolase 2		G	THR/ALA	0,3835		0,0,0,1632,571	125	100	109		1084	-2.3	1	X	dbSNP_134	109	16,6712		0,13,3,2415,1869	yes	missense	FAAH2	NM_174912.3	58	0,13,3,4047,2440	AA,AG,A,GG,G		0.2378,0.0,0.1515	benign	362/533	57458438	16,10547	2203	4300	6503	SO:0001583	missense	158584					integral to membrane	carbon-nitrogen ligase activity, with glutamine as amido-N-donor|hydrolase activity	g.chrX:57458438G>A	AK055766	CCDS14375.1	Xp11.1	2008-02-05	2006-11-24	2006-11-24	ENSG00000165591	ENSG00000165591			26440	protein-coding gene	gene with protein product		300654	"amidase domain containing"	AMDD		17015445	Standard	NM_174912		Approved	RP11-479E16.1, FLJ31204, FAAH-2	uc004dvc.3	Q6GMR7	OTTHUMG00000021684	ENST00000374900.4:c.1084G>A	X.37:g.57458438G>A	ENSP00000364035:p.Ala362Thr	HNSCC(52;0.14)				FAAH2_ENST00000491179.1_3'UTR	p.A362T	NM_174912.3	NP_777572.2	Q6GMR7	FAAH2_HUMAN			8	1204	+			362					Q86VT2|Q96N98	Missense_Mutation	SNP	ENST00000374900.4	37	c.1084G>A	CCDS14375.1	1	6.027727546714888E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	g	0.243	-1.012059	0.02095	0.0	0.002378	ENSG00000165591	ENST00000374900	T	0.62498	0.02	2.39	-2.27	0.06846	Amidase signature domain (2);	0.307756	0.29551	N	0.011826	T	0.35422	0.0931	N	0.16307	0.4	0.18873	N	0.999981	B	0.12630	0.006	B	0.13407	0.009	T	0.13415	-1.0510	10	0.20519	T	0.43	.	6.0334	0.19692	0.5116:0.0:0.4884:0.0	.	362	Q6GMR7	FAAH2_HUMAN	T	362	ENSP00000364035:A362T	ENSP00000364035:A362T	A	+	1	0	FAAH2	57475163	0.115000	0.22152	0.953000	0.39169	0.781000	0.44180	-0.122000	0.10627	-0.663000	0.05331	-2.553000	0.00177	GCA		0.348	FAAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056919.1	NM_174912		31	4	0	0	0	1	0	31	4					A	57458438	G	A	57458438	3	1	194	1	0	0	0	0	1	0	0	0	5354	1087	38	1	1114	1	FAAH2	23	57458438	Missense_Mutation	SNP	G	TCGA-H9-A6BY-01A-11D-A30E-08		57458438	97812122	38	9023											
RPA4	29935	broad.mit.edu	37	chrX	96140039	96140039	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aagcgattgattatctgaccGttgagggccacatctatccc	10	11	9	11	2	2	3	0	3	2	0	3	4	3	3	3	1	1	1	3	1	3	4			TCGA-H9-A6BY-01A-11D-A30E-08	TCGA-H9-A6BY-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e25c1b9-c691-44c5-bc32-85ddca3e1196	57d5137e-6a41-4e03-a279-e4ee1cf06472	g.chrX:96140039G>A	ENST00000373040.3	+	1	1133	c.730G>A	c.(730-732)Gtt>Att	p.V244I	DIAPH2_ENST00000373054.4_Intron|DIAPH2_ENST00000355827.4_Intron|DIAPH2_ENST00000373061.3_Intron|DIAPH2_ENST00000373049.4_Intron|DIAPH2_ENST00000324765.8_Intron	NM_013347.4	NP_037479.1	Q13156	RFA4_HUMAN	replication protein A4, 30kDa	244					DNA damage checkpoint (GO:0000077)|DNA recombination (GO:0006310)|DNA replication initiation (GO:0006270)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)	DNA replication factor A complex (GO:0005662)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	single-stranded DNA binding (GO:0003697)			endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)	13						TTATCTGACCGTTGAGGGCCA	0.507								Other identified genes with known or suspected DNA repair function																														ENST00000373040.3																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)	13						c.(730-732)Gtt>Att	Other identified genes with known or suspected DNA repair function	replication protein A4, 30kDa							93	82	86					X																	96140039		2203	4300	6503	SO:0001583	missense	29935				DNA damage checkpoint|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair	DNA replication factor A complex|nucleoplasm	single-stranded DNA binding	g.chrX:96140039G>A	U24186	CCDS35345.1	Xq21	2010-04-09	2010-04-09		ENSG00000204086	ENSG00000204086			30305	protein-coding gene	gene with protein product		300767	"replication protein A4, 34kDa"			7760808	Standard	NM_013347		Approved	HSU24186	uc004efv.4	Q13156	OTTHUMG00000021987	ENST00000373040.3:c.730G>A	X.37:g.96140039G>A	ENSP00000362131:p.Val244Ile					DIAPH2_ENST00000373049.4_Intron|DIAPH2_ENST00000373054.4_Intron|DIAPH2_ENST00000355827.4_Intron|DIAPH2_ENST00000324765.8_Intron|DIAPH2_ENST00000373061.3_Intron	p.V244I	NM_013347.4	NP_037479.1	Q13156	RFA4_HUMAN			1	1133	+			244					Q3SY03	Missense_Mutation	SNP	ENST00000373040.3	37	c.730G>A	CCDS35345.1	.	.	.	.	.	.	.	.	.	.	G	4.929	0.172545	0.09391	.	.	ENSG00000204086	ENST00000373040	T	0.42131	0.98	3.18	-6.36	0.01969	Winged helix-turn-helix transcription repressor DNA-binding (1);Replication protein A, C-terminal (1);	.	.	.	.	T	0.21509	0.0518	N	0.22421	0.69	0.09310	N	1	B	0.13145	0.007	B	0.06405	0.002	T	0.07809	-1.0753	9	0.32370	T	0.25	-5.7039	4.8427	0.13498	0.1485:0.2363:0.4972:0.1179	.	244	Q13156	RFA4_HUMAN	I	244	ENSP00000362131:V244I	ENSP00000362131:V244I	V	+	1	0	RPA4	96026695	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.678000	0.05209	-3.282000	0.00197	-2.427000	0.00216	GTT		0.507	RPA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057464.1	NM_013347		3	39	0	0	0	1	0	3	39					A	96140039	G	A	96140039	3	1	194	1	0	0	0	0	1	0	0	0	13539	1145	40	1	732	1	RPA4	23	96140039	Missense_Mutation	SNP	G	TCGA-H9-A6BY-01A-11D-A30E-08	38681601	96140039	59130521	39	9024											
PRAMEF11	440560	broad.mit.edu	37	chr1	12884845	12884845	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggtcataaaatgacctgtcGccatggtcagggcagttgtc	10	10	12	9	1	2	1	2	1	0	0	4	1	2	1	2	3	0	2	2	3	2	2			TCGA-HC-7075-01A-11D-1961-08	TCGA-HC-7075-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddc422e4-87e2-4fc0-b56b-ddc2d6a92f58	f10cbfd4-a508-4061-a2b0-767db51dc211	g.chr1:12884845G>A	ENST00000535591.1	-	4	1461	c.1266C>T	c.(1264-1266)ggC>ggT	p.G422G	RP5-845O24.8_ENST00000438401.1_lincRNA	NM_001146344.1	NP_001139816.1	O60813	PRA11_HUMAN	PRAME family member 11	422					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)					NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1)	27						ATGACCTGTCGCCATGGTCAG	0.473																																						ENST00000535591.1																			0				NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1)	27						c.(1264-1266)ggC>ggT		PRAME family member 11							57	45	49					1																	12884845		692	1590	2282	SO:0001819	synonymous_variant	440560							g.chr1:12884845G>A	AL049680	CCDS53268.1	1p36.21	2013-01-17			ENSG00000204513	ENSG00000239810		"-"	14086	protein-coding gene	gene with protein product							Standard	XM_006710645		Approved		uc001auk.2	O60813	OTTHUMG00000001929	ENST00000535591.1:c.1266C>T	1.37:g.12884845G>A							p.G422G	NM_001146344.1	NP_001139816.1	O60813	PRA11_HUMAN			4	1461	-			422						Silent	SNP	ENST00000535591.1	37	c.1266C>T	CCDS53268.1																																																																																				0.473	PRAMEF11-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		XM_496341		11	367	0	0	0	0.000978	0	11	367					A	12884845	G	A	12884845	2	1	195	1	0	0	0	0	0	0	0	1	12427	1074	38	1		1	PRAMEF11	1	12884845	Silent	SNP	G	TCGA-HC-7075-01A-11D-1961-08		12884845	236365776	1	9025											
CELA2B	51032	broad.mit.edu	37	chr1	15802967	15802967	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacagccctcagttgtggggTctccacttacgcgcctgata	7	10	10	14	2	2	1	1	1	1	0	3	1	2	1	3	2	2	1	3	2	2	3			TCGA-HC-7075-01A-11D-1961-08	TCGA-HC-7075-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddc422e4-87e2-4fc0-b56b-ddc2d6a92f58	f10cbfd4-a508-4061-a2b0-767db51dc211	g.chr1:15802967T>A	ENST00000375910.3	+	2	81	c.56T>A	c.(55-57)gTc>gAc	p.V19D	CELA2B_ENST00000494280.1_3'UTR	NM_015849.2	NP_056933	P08218	CEL2B_HUMAN	chymotrypsin-like elastase family, member 2B	19						extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)			breast(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)	8						AGTTGTGGGGTCTCCACTTAC	0.527																																						ENST00000375910.3																			0				breast(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)	8						c.(55-57)gTc>gAc		chymotrypsin-like elastase family, member 2B							120	115	117					1																	15802967		2203	4300	6503	SO:0001583	missense	51032				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr1:15802967T>A		CCDS30605.1	1p36.21	2009-07-09			ENSG00000215704	ENSG00000215704			29995	protein-coding gene	gene with protein product	"pancreatic elastase IIB"	609444				3646943, 16327289	Standard	NM_015849		Approved	RP11-265F14.2, ELA2B	uc001awl.3	P08218	OTTHUMG00000002259	ENST00000375910.3:c.56T>A	1.37:g.15802967T>A	ENSP00000365075:p.Val19Asp					CELA2B_ENST00000494280.1_3'UTR	p.V19D	NM_015849.2	NP_056933.2	P08218	CEL2B_HUMAN			2	81	+			19					Q14D16|Q6ISM5|Q96QV5	Missense_Mutation	SNP	ENST00000375910.3	37	c.56T>A	CCDS30605.1	.	.	.	.	.	.	.	.	.	.	T	1.790	-0.479829	0.04383	.	.	ENSG00000215704	ENST00000375910;ENST00000422901	D;D	0.93426	-3.22;-2.95	4.39	0.376	0.16193	Peptidase cysteine/serine, trypsin-like (1);	0.501238	0.15453	U	0.261580	D	0.85932	0.5812	L	0.43598	1.365	0.25250	N	0.989686	B	0.06786	0.001	B	0.10450	0.005	T	0.68534	-0.5383	10	0.13108	T	0.6	.	3.3034	0.06990	0.3747:0.1066:0.0:0.5187	.	19	P08218	CEL2B_HUMAN	D	19;3	ENSP00000365075:V19D;ENSP00000399811:V3D	ENSP00000365075:V19D	V	+	2	0	CELA2B	15675554	0.000000	0.05858	0.004000	0.12327	0.048000	0.14542	-0.078000	0.11375	-0.221000	0.09973	0.172000	0.16884	GTC		0.527	CELA2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006448.1	NM_015849		5	156	0	0	0	0.000602	0	5	156					A	15802967	T	A	15802967	3	1	195	1	0	0	0	0	1	0	0	0	3212	1667	58	5	62	5	CELA2B	1	15802967	Missense_Mutation	SNP	T	TCGA-HC-7075-01A-11D-1961-08	2918122	15802967	233447654	2	9026											
VCAM1	7412	broad.mit.edu	37	chr1	101188742	101188742	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaatttctggaggatgcagaCaggaagtccctggaaaccaa	14	7	12	8	0	1	1	0	0	1	1	2	6	2	5	2	4	2	1	2	4	4	1			TCGA-HC-7075-01A-11D-1961-08	TCGA-HC-7075-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddc422e4-87e2-4fc0-b56b-ddc2d6a92f58	f10cbfd4-a508-4061-a2b0-767db51dc211	g.chr1:101188742C>G	ENST00000294728.2	+	3	608	c.507C>G	c.(505-507)gaC>gaG	p.D169E	VCAM1_ENST00000370115.1_Missense_Mutation_p.D169E|VCAM1_ENST00000370119.4_Missense_Mutation_p.D107E|VCAM1_ENST00000347652.2_Missense_Mutation_p.D169E	NM_001078.3	NP_001069.1	P19320	VCAM1_HUMAN	vascular cell adhesion molecule 1	169	Ig-like C2-type 2.				acute inflammatory response (GO:0002526)|aging (GO:0007568)|amine metabolic process (GO:0009308)|B cell differentiation (GO:0030183)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell-matrix adhesion (GO:0007160)|cellular response to glucose stimulus (GO:0071333)|cellular response to tumor necrosis factor (GO:0071356)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|chorio-allantoic fusion (GO:0060710)|chronic inflammatory response (GO:0002544)|cytokine-mediated signaling pathway (GO:0019221)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|heterophilic cell-cell adhesion (GO:0007157)|interferon-gamma-mediated signaling pathway (GO:0060333)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte tethering or rolling (GO:0050901)|membrane to membrane docking (GO:0022614)|oxidation-reduction process (GO:0055114)|positive regulation of T cell proliferation (GO:0042102)|regulation of immune response (GO:0050776)|response to ethanol (GO:0045471)|response to hypoxia (GO:0001666)|response to ionizing radiation (GO:0010212)|response to lipopolysaccharide (GO:0032496)|response to nicotine (GO:0035094)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|viral process (GO:0016032)	alpha9-beta1 integrin-vascular cell adhesion molecule-1 complex (GO:0071065)|apical part of cell (GO:0045177)|cell surface (GO:0009986)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|microvillus (GO:0005902)|plasma membrane (GO:0005886)|podosome (GO:0002102)|sarcolemma (GO:0042383)	cell adhesion molecule binding (GO:0050839)|integrin binding (GO:0005178)|primary amine oxidase activity (GO:0008131)			central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(27)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_epithelial(167;3.83e-06)|all_lung(203;0.000485)|Lung NSC(277;0.0011)		Epithelial(280;0.0227)|all cancers(265;0.0276)|COAD - Colon adenocarcinoma(174;0.149)|Colorectal(144;0.169)|Lung(183;0.196)	Carvedilol(DB01136)	AGGATGCAGACAGGAAGTCCC	0.418																																						ENST00000294728.2																			0				central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(27)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56						c.(505-507)gaC>gaG		vascular cell adhesion molecule 1	Carvedilol(DB01136)						105	98	100					1																	101188742		2203	4299	6502	SO:0001583	missense	7412				heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|leukocyte tethering or rolling|membrane to membrane docking|positive regulation of T cell proliferation|regulation of immune response	alpha9-beta1 integrin-vascular cell adhesion molecule-1 complex|apical part of cell|external side of plasma membrane|extracellular space|filopodium|integral to membrane|microvillus|podosome	cell adhesion molecule binding|integrin binding	g.chr1:101188742C>G	M60335	CCDS773.1, CCDS774.1, CCDS55617.1	1p32-p31	2014-01-30			ENSG00000162692	ENSG00000162692		"CD molecules", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Endogenous ligands"	12663	protein-coding gene	gene with protein product		192225					Standard	NM_080682		Approved	CD106	uc001dti.3	P19320	OTTHUMG00000010982	ENST00000294728.2:c.507C>G	1.37:g.101188742C>G	ENSP00000294728:p.Asp169Glu					VCAM1_ENST00000370119.4_Missense_Mutation_p.D107E|VCAM1_ENST00000370115.1_Missense_Mutation_p.D169E|VCAM1_ENST00000347652.2_Missense_Mutation_p.D169E	p.D169E	NM_001078.3	NP_001069.1	P19320	VCAM1_HUMAN		Epithelial(280;0.0227)|all cancers(265;0.0276)|COAD - Colon adenocarcinoma(174;0.149)|Colorectal(144;0.169)|Lung(183;0.196)	3	608	+		all_epithelial(167;3.83e-06)|all_lung(203;0.000485)|Lung NSC(277;0.0011)	169			Ig-like C2-type 2.		A8K6R7|B4DKS4|E9PDD1|Q6NUP8	Missense_Mutation	SNP	ENST00000294728.2	37	c.507C>G	CCDS773.1	.	.	.	.	.	.	.	.	.	.	C	0.842	-0.741489	0.03088	.	.	ENSG00000162692	ENST00000370119;ENST00000347652;ENST00000294728;ENST00000370115	T;T;T;T	0.18810	2.19;2.19;2.19;2.19	5.63	-11.3	0.00108	Immunoglobulin C2-set (1);Immunoglobulin-like fold (1);	0.930593	0.09179	N	0.837743	T	0.01592	0.0051	N	0.25825	0.765	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.35847	-0.9772	10	0.02654	T	1	4.0E-4	2.4176	0.04440	0.3672:0.147:0.3512:0.1346	.	107;169;169	E9PDD1;P19320-2;P19320	.;.;VCAM1_HUMAN	E	107;169;169;169	ENSP00000359137:D107E;ENSP00000304611:D169E;ENSP00000294728:D169E;ENSP00000359133:D169E	ENSP00000294728:D169E	D	+	3	2	VCAM1	100961330	0.000000	0.05858	0.000000	0.03702	0.458000	0.32498	-5.770000	0.00099	-2.251000	0.00700	0.591000	0.81541	GAC		0.418	VCAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030213.1	NM_001078		13	43	0	0	0	0.001368	0	13	43					G	101188742	C	G	101188742	3	3	195	1	0	0	0	0	1	0	0	0	17134	477	17	5	517	5	VCAM1	1	101188742	Missense_Mutation	SNP	C	TCGA-HC-7075-01A-11D-1961-08	85385775	101188742	148061879	3	9027											
LCE1D	353134	broad.mit.edu	37	chr1	152770502	152770502	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgcctgagccaccacaggCgccacaggtcccaccgtcgc	7	4	11	19	3	0	1	0	1	0	0	2	1	1	1	6	2	2	1	6	2	0	0	rs142021851		TCGA-HC-7075-01A-11D-1961-08	TCGA-HC-7075-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddc422e4-87e2-4fc0-b56b-ddc2d6a92f58	f10cbfd4-a508-4061-a2b0-767db51dc211	g.chr1:152770502C>T	ENST00000326233.6	+	2	275	c.232C>T	c.(232-234)Cgc>Tgc	p.R78C		NM_178352.2	NP_848129.1	Q5T752	LCE1D_HUMAN	late cornified envelope 1D	78	Cys-rich.		R -> H (in dbSNP:rs41268490).		cellular response to calcium ion (GO:0071277)|cognition (GO:0050890)|keratinization (GO:0031424)	cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|perinuclear region of cytoplasm (GO:0048471)				large_intestine(1)	1	Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCACCACAGGCGCCACAGGTC	0.716																																						ENST00000326233.6																			0				large_intestine(1)	1						c.(232-234)Cgc>Tgc		late cornified envelope 1D		C	CYS/ARG	0,4026		0,0,2013	19	22	21		232	3.2	1	1	dbSNP_134	21	4,7500		0,4,3748	no	missense	LCE1D	NM_178352.2	180	0,4,5761	TT,TC,CC		0.0533,0.0,0.0347	probably-damaging	78/115	152770502	4,11526	2013	3752	5765	SO:0001583	missense	353134				cellular response to calcium ion|keratinization	cornified envelope|perinuclear region of cytoplasm		g.chr1:152770502C>T		CCDS1025.1	1q21.3	2008-02-05			ENSG00000172155	ENSG00000172155		"Late cornified envelopes"	29465	protein-coding gene	gene with protein product		612606				11698679	Standard	NM_178352		Approved	LEP4	uc009wnp.3	Q5T752	OTTHUMG00000012444	ENST00000326233.6:c.232C>T	1.37:g.152770502C>T	ENSP00000316737:p.Arg78Cys						p.R78C	NM_178352.2	NP_848129.1	Q5T752	LCE1D_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	275	+	Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		78		R -> H (in dbSNP:rs41268490).	Cys-rich.			Missense_Mutation	SNP	ENST00000326233.6	37	c.232C>T	CCDS1025.1	.	.	.	.	.	.	.	.	.	.	C	9.934	1.215625	0.22373	0.0	5.33E-4	ENSG00000172155	ENST00000326233	T	0.03772	3.81	4.19	3.2	0.36748	.	1.035500	0.07789	N	0.954589	T	0.02193	0.0068	N	0.25647	0.755	0.29812	N	0.831537	D	0.60160	0.987	P	0.44561	0.453	T	0.45293	-0.9271	10	0.87932	D	0	.	9.7073	0.40222	0.2059:0.7941:0.0:0.0	.	78	Q5T752	LCE1D_HUMAN	C	78	ENSP00000316737:R78C	ENSP00000316737:R78C	R	+	1	0	LCE1D	151037126	0.984000	0.35163	0.997000	0.53966	0.772000	0.43724	0.000000	0.12993	2.021000	0.59480	0.555000	0.69702	CGC		0.716	LCE1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034657.2	NM_178352		6	67	0	0	0	0.001168	0	6	67					T	152770502	C	T	152770502	3	4	195	1	0	0	0	0	1	0	0	0	8662	768	27	1	234	1	LCE1D	1	152770502	Missense_Mutation	SNP	C	TCGA-HC-7075-01A-11D-1961-08	51581760	152770502	96480119	4	9028											
TNN	63923	broad.mit.edu	37	chr1	175054615	175054615	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tggagggcaagccgatcctcCtgaatggcaggacaggtgag	10	6	16	9	1	0	2	0	2	0	0	2	5	2	4	3	5	1	2	3	5	2	0			TCGA-HC-7075-01A-11D-1961-08	TCGA-HC-7075-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddc422e4-87e2-4fc0-b56b-ddc2d6a92f58	f10cbfd4-a508-4061-a2b0-767db51dc211	g.chr1:175054615C>T	ENST00000239462.4	+	6	1422	c.1309C>T	c.(1309-1311)Ctg>Ttg	p.L437L		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	437	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axonogenesis (GO:0007409)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)	cell surface (GO:0009986)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		GCCGATCCTCCTGAATGGCAG	0.517																																						ENST00000239462.4																			0				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156						c.(1309-1311)Ctg>Ttg		tenascin N							65	56	59					1																	175054615		2203	4300	6503	SO:0001819	synonymous_variant	63923				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix		g.chr1:175054615C>T	AK127044	CCDS30943.1	1q23-q24	2013-02-11			ENSG00000120332	ENSG00000120332		"Fibrinogen C domain containing", "Fibronectin type III domain containing"	22942	protein-coding gene	gene with protein product							Standard	NM_022093		Approved		uc001gkl.1	Q9UQP3	OTTHUMG00000034882	ENST00000239462.4:c.1309C>T	1.37:g.175054615C>T							p.L437L	NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)	6	1422	+		Breast(1374;0.000962)	437			Fibronectin type-III 2.		B9EGP3|Q5R360	Silent	SNP	ENST00000239462.4	37	c.1309C>T	CCDS30943.1																																																																																				0.517	TNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084422.1	XM_040527		6	12	0	0	0	0.001984	0	6	12					T	175054615	C	T	175054615	2	4	195	1	0	0	0	0	0	0	0	1	16320	680	24	3		3	TNN	1	175054615	Silent	SNP	C	TCGA-HC-7075-01A-11D-1961-08	22284113	175054615	74196006	5	9029											
SP110	3431	broad.mit.edu	37	chr2	231033887	231033887	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	attggcttcatgaaaaccgaGcacgtctttgagatcttttt	10	15	8	8	2	3	2	1	2	2	1	3	4	3	2	1	1	2	2	1	1	2	5			TCGA-HC-7075-01A-11D-1961-08	TCGA-HC-7075-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddc422e4-87e2-4fc0-b56b-ddc2d6a92f58	f10cbfd4-a508-4061-a2b0-767db51dc211	g.chr2:231033887G>A	ENST00000358662.4	-	18	2101	c.2023C>T	c.(2023-2025)Ctc>Ttc	p.L675F	AC009950.2_ENST00000445199.1_RNA|AC009950.2_ENST00000595586.2_RNA|AC009950.2_ENST00000594622.1_RNA|SP110_ENST00000258381.6_Missense_Mutation_p.L699F|AC009950.2_ENST00000609120.1_RNA|AC009950.2_ENST00000454058.1_RNA|AC009950.2_ENST00000600787.1_RNA	NM_004509.3	NP_004500	Q9HB58	SP110_HUMAN	SP110 nuclear body protein	675	Bromo.				regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|signal transducer activity (GO:0004871)|zinc ion binding (GO:0008270)			breast(4)|endometrium(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Renal(207;0.0112)|all_lung(227;0.0223)|Lung NSC(271;0.0983)|all_hematologic(139;0.104)|Acute lymphoblastic leukemia(138;0.169)		Epithelial(121;2.61e-12)|all cancers(144;6.39e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.0097)		TGAAAACCGAGCACGTCTTTG	0.458																																						ENST00000258381.6																			0				breast(4)|endometrium(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(2095-2097)Ctc>Ttc		SP110 nuclear body protein							183	189	187					2																	231033887		2203	4300	6503	SO:0001583	missense	3431				interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|signal transducer activity|zinc ion binding	g.chr2:231033887G>A	L22343	CCDS2474.1, CCDS2475.1, CCDS2476.1, CCDS54435.1	2q37.1	2014-09-17	2001-12-19	2001-12-20	ENSG00000135899	ENSG00000135899			5401	protein-coding gene	gene with protein product		604457	"interferon-induced protein 41, 30kD"	IFI41, IFI75		7693701, 10388521	Standard	NM_080424		Approved		uc002vqg.3	Q9HB58	OTTHUMG00000133204	ENST00000358662.4:c.2023C>T	2.37:g.231033887G>A	ENSP00000351488:p.Leu675Phe					SP110_ENST00000358662.4_Missense_Mutation_p.L675F	p.L699F	NM_080424.2	NP_536349.2	Q9HB58	SP110_HUMAN		Epithelial(121;2.61e-12)|all cancers(144;6.39e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.0097)	19	2172	-		Renal(207;0.0112)|all_lung(227;0.0223)|Lung NSC(271;0.0983)|all_hematologic(139;0.104)|Acute lymphoblastic leukemia(138;0.169)	675					B4DVI4|F5H1M1|Q14976|Q14977|Q53TG2|Q8WUZ6|Q9HCT8	Missense_Mutation	SNP	ENST00000358662.4	37	c.2095C>T	CCDS2474.1	.	.	.	.	.	.	.	.	.	.	G	0.008	-1.906750	0.00512	.	.	ENSG00000135899	ENST00000258381;ENST00000358662	T;T	0.44482	0.92;0.92	3.02	-3.65	0.04502	Bromodomain (2);	.	.	.	.	T	0.08802	0.0218	N	0.00251	-1.775	0.09310	N	0.999998	B;B	0.09022	0.0;0.002	B;B	0.12156	0.001;0.007	T	0.36553	-0.9743	9	0.02654	T	1	.	9.2559	0.37584	0.7275:0.0:0.2725:0.0	.	675;699	Q9HB58;Q9HB58-6	SP110_HUMAN;.	F	699;675	ENSP00000258381:L699F;ENSP00000351488:L675F	ENSP00000258381:L699F	L	-	1	0	SP110	230742131	0.000000	0.05858	0.000000	0.03702	0.043000	0.13939	-1.307000	0.02733	-0.924000	0.03780	-0.670000	0.03821	CTC		0.458	SP110-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000332414.1	NM_080424		74	151	0	0	0	0.00361	0	74	151					A	231033887	G	A	231033887	3	1	195	1	0	0	0	0	1	0	0	0	14961	971	34	3	50	3	SP110	2	231033887	Missense_Mutation	SNP	G	TCGA-HC-7075-01A-11D-1961-08		231033887	12165486	6	9030											
CLASP2	23122	broad.mit.edu	37	chr3	33552113	33552113	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtttccttggacactctctcTatcacttttgtttgcatttt	5	21	5	10	0	3	0	1	0	2	0	5	1	4	1	1	1	1	3	1	1	1	8			TCGA-HC-7075-01A-11D-1961-08	TCGA-HC-7075-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddc422e4-87e2-4fc0-b56b-ddc2d6a92f58	f10cbfd4-a508-4061-a2b0-767db51dc211	g.chr3:33552113T>C	ENST00000468888.2	-	37	4324	c.4278A>G	c.(4276-4278)atA>atG	p.I1426M	CLASP2_ENST00000539981.1_3'UTR|CLASP2_ENST00000461133.3_Missense_Mutation_p.I1185M|CLASP2_ENST00000399362.4_Missense_Mutation_p.I1425M|CLASP2_ENST00000307312.7_Missense_Mutation_p.I907M|CLASP2_ENST00000480013.1_Missense_Mutation_p.I1205M|CLASP2_ENST00000359576.5_Missense_Mutation_p.I1417M			O75122	CLAP2_HUMAN	cytoplasmic linker associated protein 2	1206					axon guidance (GO:0007411)|establishment or maintenance of cell polarity (GO:0007163)|fucosylation (GO:0036065)|microtubule anchoring (GO:0034453)|microtubule nucleation (GO:0007020)|microtubule organizing center organization (GO:0031023)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of microtubule depolymerization (GO:0007026)|regulation of microtubule polymerization or depolymerization (GO:0031110)|regulation of microtubule-based process (GO:0032886)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|kinetochore (GO:0000776)|kinetochore microtubule (GO:0005828)|membrane (GO:0016020)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|trans-Golgi network (GO:0005802)	galactoside 2-alpha-L-fucosyltransferase activity (GO:0008107)|microtubule plus-end binding (GO:0051010)			breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	48						ACACTCTCTCTATCACTTTTG	0.413																																						ENST00000399362.4																			0				breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	48						c.(4273-4275)atA>atG		cytoplasmic linker associated protein 2							202	177	185					3																	33552113		1888	4125	6013	SO:0001583	missense	23122							g.chr3:33552113T>C	AB014527		3p24.3	2013-01-18			ENSG00000163539	ENSG00000163539			17078	protein-coding gene	gene with protein product		605853				9734811, 10899121	Standard	NM_015097		Approved	KIAA0627	uc021wvc.1	O75122	OTTHUMG00000156489	ENST00000468888.2:c.4278A>G	3.37:g.33552113T>C	ENSP00000419974:p.Ile1426Met					CLASP2_ENST00000539981.1_3'UTR|CLASP2_ENST00000359576.5_Missense_Mutation_p.I1417M|CLASP2_ENST00000307312.7_Missense_Mutation_p.I907M|CLASP2_ENST00000480013.1_Missense_Mutation_p.I1205M|CLASP2_ENST00000468888.2_Missense_Mutation_p.I1426M|CLASP2_ENST00000461133.3_Missense_Mutation_p.I1185M	p.I1425M	NM_015097.2	NP_055912.2	B2RTR1	B2RTR1_HUMAN			37	4628	-			1427					Q7L8F6|Q8N6R6|Q9BQT3|Q9BQT4|Q9H7A3|Q9NSZ2	Missense_Mutation	SNP	ENST00000468888.2	37	c.4275A>G		.	.	.	.	.	.	.	.	.	.	T	16.43	3.120485	0.56613	.	.	ENSG00000163539	ENST00000468888;ENST00000399362;ENST00000359576;ENST00000307312;ENST00000480013;ENST00000461133	T;T;T;T;T;T	0.69435	-0.4;-0.4;-0.4;-0.4;-0.4;-0.4	5.88	-3.7	0.04437	.	0.167258	0.56097	D	0.000036	T	0.58409	0.2120	L	0.41961	1.31	0.46149	D	0.998895	B;B	0.32893	0.053;0.389	B;B	0.38921	0.032;0.285	T	0.57877	-0.7735	10	0.66056	D	0.02	-22.9986	14.5524	0.68075	0.0839:0.0:0.6022:0.3139	.	1417;1425	F5H604;E7ERI8	.;.	M	1426;1425;1417;907;1205;1185	ENSP00000419974:I1426M;ENSP00000382297:I1425M;ENSP00000352581:I1417M;ENSP00000304743:I907M;ENSP00000417518:I1205M;ENSP00000419305:I1185M	ENSP00000304743:I907M	I	-	3	3	CLASP2	33527117	0.899000	0.30636	0.990000	0.47175	0.992000	0.81027	-0.078000	0.11375	-0.451000	0.07097	0.533000	0.62120	ATA		0.413	CLASP2-001	NOVEL	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000344320.4	NM_001207044		9	61	0	0	0	0.008291	0	9	61					C	33552113	T	C	33552113	3	2	195	1	0	0	0	0	1	0	0	0	3455	1512	53	4	278	4	CLASP2	3	33552113	Missense_Mutation	SNP	T	TCGA-HC-7075-01A-11D-1961-08		33552113	164470317	7	9031											
SLC2A9	56606	broad.mit.edu	37	chr4	9982359	9982359	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggggagcacactgagggcgaCgcctgtagagagaaagcata	13	4	16	8	2	0	3	0	1	0	2	0	6	0	4	1	3	2	3	1	3	3	2	rs370374119		TCGA-HC-7075-01A-11D-1961-08	TCGA-HC-7075-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddc422e4-87e2-4fc0-b56b-ddc2d6a92f58	f10cbfd4-a508-4061-a2b0-767db51dc211	g.chr4:9982359C>T	ENST00000264784.3	-	5	591	c.538G>A	c.(538-540)Gtc>Atc	p.V180I	SLC2A9_ENST00000309065.3_Missense_Mutation_p.V151I|SLC2A9_ENST00000506583.1_Missense_Mutation_p.V151I	NM_020041.2	NP_064425.2	Q9NRM0	GTR9_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 9	180					glucose transport (GO:0015758)|proton transport (GO:0015992)|transmembrane transport (GO:0055085)|urate metabolic process (GO:0046415)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)	glucose transmembrane transporter activity (GO:0005355)|sugar:proton symporter activity (GO:0005351)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(1)	35					Losartan(DB00678)|Probenecid(DB01032)	CTGAGGGCGACGCCTGTAGAG	0.557																																						ENST00000506583.1																			0				NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(1)	35						c.(451-453)Gtc>Atc		solute carrier family 2 (facilitated glucose transporter), member 9							60	57	58					4																	9982359		2203	4300	6503	SO:0001583	missense	56606				glucose transport|urate metabolic process	integral to membrane|plasma membrane	sugar:hydrogen symporter activity	g.chr4:9982359C>T	AF210317	CCDS3406.1, CCDS3407.1	4p16.1	2013-05-22			ENSG00000109667	ENSG00000109667		"Solute carriers"	13446	protein-coding gene	gene with protein product	"urate voltage-driven efflux transporter 1"	606142				10860667, 17710649	Standard	NM_020041		Approved	Glut9, GLUTX, URATv1	uc003gmc.3	Q9NRM0	OTTHUMG00000044263	ENST00000264784.3:c.538G>A	4.37:g.9982359C>T	ENSP00000264784:p.Val180Ile					SLC2A9_ENST00000309065.3_Missense_Mutation_p.V151I|SLC2A9_ENST00000264784.3_Missense_Mutation_p.V180I	p.V151I			Q9NRM0	GTR9_HUMAN			7	668	-			180					Q0VGC4|Q4W5D1|Q8WV30|Q96P00	Missense_Mutation	SNP	ENST00000264784.3	37	c.451G>A	CCDS3407.1	.	.	.	.	.	.	.	.	.	.	C	0.101	-1.151846	0.01700	.	.	ENSG00000109667	ENST00000506583;ENST00000264784;ENST00000309065;ENST00000513129	T;T;T;T	0.80738	-0.8;-1.41;-0.8;-0.8	4.77	2.26	0.28386	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);Sugar transporter, conserved site (1);	0.310256	0.32753	N	0.005697	T	0.48132	0.1483	N	0.01202	-0.96	0.22280	N	0.999236	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.39099	-0.9630	9	.	.	.	.	6.1634	0.20376	0.0:0.0881:0.1614:0.7505	.	151;180	Q9NRM0-2;Q9NRM0	.;GTR9_HUMAN	I	151;180;151;151	ENSP00000422209:V151I;ENSP00000264784:V180I;ENSP00000311383:V151I;ENSP00000426800:V151I	.	V	-	1	0	SLC2A9	9591457	1.000000	0.71417	0.899000	0.35326	0.225000	0.24961	0.960000	0.29253	0.173000	0.19788	-0.295000	0.09555	GTC		0.557	SLC2A9-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207055.1			4	43	0	0	0	0.000248	0	4	43					T	9982359	C	T	9982359	3	4	195	1	0	0	0	0	1	0	0	0	14552	536	19	1	1116	1	SLC2A9	4	9982359	Missense_Mutation	SNP	C	TCGA-HC-7075-01A-11D-1961-08		9982359	181171917	8	9032											
MAML3	55534	broad.mit.edu	37	chr4	140641036	140641036	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccttgctggactgttcccAtaaggctctgcagccttgga	6	12	10	13	0	1	0	0	0	1	0	3	2	3	2	3	3	3	4	3	3	1	4			TCGA-HC-7075-01A-11D-1961-08	TCGA-HC-7075-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddc422e4-87e2-4fc0-b56b-ddc2d6a92f58	f10cbfd4-a508-4061-a2b0-767db51dc211	g.chr4:140641036A>T	ENST00000509479.2	-	5	3714	c.2858T>A	c.(2857-2859)aTg>aAg	p.M953K	MGST2_ENST00000515137.1_Intron	NM_018717.4	NP_061187			mastermind-like 3 (Drosophila)											breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25	all_hematologic(180;0.162)					GACTGTTCCCATAAGGCTCTG	0.577																																						ENST00000509479.2																			0				breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25						c.(2857-2859)aTg>aAg		mastermind-like 3 (Drosophila)							61	65	64					4																	140641036		2026	4181	6207	SO:0001583	missense	55534				Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity	g.chr4:140641036A>T	AB058719	CCDS54805.1	4q31.1	2014-08-12	2003-09-24		ENSG00000196782	ENSG00000196782			16272	protein-coding gene	gene with protein product	"mastermind (drosophila)-like 3"	608991	"trinucleotide repeat containing 3"	TNRC3		12370315, 12386158	Standard	NM_018717		Approved	KIAA1816, MAM2, CAGH3, GDN	uc021xsg.1	Q96JK9	OTTHUMG00000161441	ENST00000509479.2:c.2858T>A	4.37:g.140641036A>T	ENSP00000421180:p.Met953Lys					MGST2_ENST00000515137.1_Intron	p.M953K	NM_018717.4	NP_061187.2	Q96JK9	MAML3_HUMAN			5	3714	-	all_hematologic(180;0.162)		949			Gln-rich.			Missense_Mutation	SNP	ENST00000509479.2	37	c.2858T>A	CCDS54805.1	.	.	.	.	.	.	.	.	.	.	A	13.52	2.262826	0.39995	.	.	ENSG00000196782	ENST00000509479;ENST00000538400	T	0.27890	1.64	4.86	4.86	0.63082	.	0.054609	0.64402	D	0.000001	T	0.38108	0.1028	M	0.78637	2.42	0.80722	D	1	B;B	0.31730	0.337;0.337	B;B	0.32211	0.142;0.142	T	0.39035	-0.9633	10	0.56958	D	0.05	.	14.7684	0.69657	1.0:0.0:0.0:0.0	.	953;949	E7EVW8;Q96JK9	.;MAML3_HUMAN	K	953;260	ENSP00000421180:M953K	ENSP00000421180:M953K	M	-	2	0	MAML3	140860486	1.000000	0.71417	0.996000	0.52242	0.506000	0.33950	7.620000	0.83070	1.946000	0.56461	0.482000	0.46254	ATG		0.577	MAML3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364934.2			55	79	0	0	0	0.00361	0	55	79					T	140641036	A	T	140641036	3	4	195	1	0	0	0	0	1	0	0	0	9207	217	8	5	562	5	MAML3	4	140641036	Missense_Mutation	SNP	A	TCGA-HC-7075-01A-11D-1961-08	130658677	140641036	50513240	9	9033											
DCHS2	54798	broad.mit.edu	37	chr4	155157178	155157178	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttgagtgaaaatgggctcaaAttcatctatcccttcaatat	13	14	6	8	0	4	2	3	2	1	0	5	2	5	2	1	1	0	1	1	1	6	5			TCGA-HC-7075-01A-11D-1961-08	TCGA-HC-7075-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddc422e4-87e2-4fc0-b56b-ddc2d6a92f58	f10cbfd4-a508-4061-a2b0-767db51dc211	g.chr4:155157178A>G	ENST00000357232.4	-	25	7260	c.7261T>C	c.(7261-7263)Ttt>Ctt	p.F2421L		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	2421	Cadherin 21. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		ATGGGCTCAAATTCATCTATC	0.433																																						ENST00000357232.3																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176						c.(7261-7263)Ttt>Ctt		dachsous cadherin-related 2							84	84	84					4																	155157178		2203	4300	6503	SO:0001583	missense	54798				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:155157178A>G	BC140919	CCDS3785.1, CCDS47150.1	4q32.1	2014-06-04	2013-10-04	2004-09-03		ENSG00000197410		"Cadherins / Cadherin-related"	23111	protein-coding gene	gene with protein product	"cadherin-related family member 7"	612486	"cadherin-like 27", "dachsous 2 (Drosophila)"	CDH27, PCDH23		15003449	Standard	NM_017639		Approved	CDHJ, FLJ20047, PCDHJ, CDHR7	uc003inw.2	Q6V1P9		ENST00000357232.4:c.7261T>C	4.37:g.155157178A>G	ENSP00000349768:p.Phe2421Leu						p.F2421L	NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN		LUSC - Lung squamous cell carcinoma(193;0.107)	25	7260	-	all_hematologic(180;0.208)	Renal(120;0.0854)	2421			Cadherin 21.		B2RU14|E9PC11|Q4W5P9|Q6ZS61|Q9NXU8	Missense_Mutation	SNP	ENST00000357232.4	37	c.7261T>C	CCDS3785.1	.	.	.	.	.	.	.	.	.	.	A	28.4	4.914243	0.92178	.	.	ENSG00000197410	ENST00000357232	T	0.60424	0.19	6.04	6.04	0.98038	Cadherin (3);Cadherin-like (1);	0.073912	0.56097	D	0.000031	T	0.73753	0.3627	M	0.86953	2.85	0.80722	D	1	D	0.59767	0.986	P	0.53649	0.731	T	0.76782	-0.2832	10	0.41790	T	0.15	.	16.5885	0.84745	1.0:0.0:0.0:0.0	.	2421	Q6V1P9	PCD23_HUMAN	L	2421	ENSP00000349768:F2421L	ENSP00000349768:F2421L	F	-	1	0	DCHS2	155376628	1.000000	0.71417	1.000000	0.80357	0.903000	0.53119	9.339000	0.96797	2.317000	0.78254	0.460000	0.39030	TTT		0.433	DCHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365281.2	NM_001142552		3	53	0	0	0	0.000602	0	3	53					G	155157178	A	G	155157178	3	3	195	1	0	0	0	0	1	0	0	0	4288	101	4	4	1493	4	DCHS2	4	155157178	Missense_Mutation	SNP	A	TCGA-HC-7075-01A-11D-1961-08	14516142	155157178	35997098	10	9034											
FSTL5	56884	broad.mit.edu	37	chr4	162680679	162680679	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgccaagttcttcctgttttAtcacctaacaagaaaattat	13	15	4	9	0	2	1	1	0	1	1	3	1	3	1	3	0	2	2	3	0	7	6			TCGA-HC-7075-01A-11D-1961-08	TCGA-HC-7075-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddc422e4-87e2-4fc0-b56b-ddc2d6a92f58	f10cbfd4-a508-4061-a2b0-767db51dc211	g.chr4:162680679A>G	ENST00000306100.5	-	6	1047	c.611T>C	c.(610-612)aTa>aCa	p.I204T	FSTL5_ENST00000536695.1_Missense_Mutation_p.I203T|FSTL5_ENST00000427802.2_Missense_Mutation_p.I203T|FSTL5_ENST00000379164.4_Missense_Mutation_p.I203T	NM_001128427.2|NM_020116.4	NP_001121899.1|NP_064501.2	Q8N475	FSTL5_HUMAN	follistatin-like 5	204	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.					extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		TTCCTGTTTTATCACCTAACA	0.274																																						ENST00000306100.5																			0				central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91						c.(610-612)aTa>aCa		follistatin-like 5							75	81	79					4																	162680679		2203	4300	6503	SO:0001583	missense	56884					extracellular region	calcium ion binding	g.chr4:162680679A>G	BC036502	CCDS3802.1, CCDS47157.1, CCDS47158.1	4q32.3	2013-01-11			ENSG00000168843	ENSG00000168843		"EF-hand domain containing", "Immunoglobulin superfamily / I-set domain containing"	21386	protein-coding gene	gene with protein product						10574462, 15527507	Standard	NM_020116		Approved	DKFZp566D234, KIAA1263	uc003iqh.4	Q8N475	OTTHUMG00000161397	ENST00000306100.5:c.611T>C	4.37:g.162680679A>G	ENSP00000305334:p.Ile204Thr					FSTL5_ENST00000379164.4_Missense_Mutation_p.I203T|FSTL5_ENST00000536695.1_Missense_Mutation_p.I203T|FSTL5_ENST00000427802.2_Missense_Mutation_p.I203T	p.I204T	NM_001128427.2|NM_020116.4	NP_001121899.1|NP_064501.2	Q8N475	FSTL5_HUMAN		COAD - Colon adenocarcinoma(41;0.179)	6	1047	-	all_hematologic(180;0.24)		204			EF-hand 1.		E9PCP6|Q9NSW7|Q9ULF7	Missense_Mutation	SNP	ENST00000306100.5	37	c.611T>C	CCDS3802.1	.	.	.	.	.	.	.	.	.	.	A	13.57	2.277475	0.40294	.	.	ENSG00000168843	ENST00000306100;ENST00000379164;ENST00000427802;ENST00000536695	T;T;T;T	0.21191	2.02;2.02;2.02;2.02	5.37	5.37	0.77165	EF-hand-like domain (1);	0.046510	0.85682	D	0.000000	T	0.33089	0.0851	L	0.50333	1.59	0.58432	D	0.999998	D;B;D	0.63880	0.979;0.274;0.993	P;B;P	0.57101	0.628;0.135;0.813	T	0.02713	-1.1120	10	0.22706	T	0.39	.	14.5345	0.67950	1.0:0.0:0.0:0.0	.	203;203;204	E9PCP6;F8VZ90;Q8N475	.;.;FSTL5_HUMAN	T	204;203;203;203	ENSP00000305334:I204T;ENSP00000368462:I203T;ENSP00000389270:I203T;ENSP00000440409:I203T	ENSP00000305334:I204T	I	-	2	0	FSTL5	162900129	1.000000	0.71417	1.000000	0.80357	0.749000	0.42624	6.778000	0.75043	2.030000	0.59900	0.472000	0.43445	ATA		0.274	FSTL5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364773.2	NM_020116		11	53	0	0	0	0.000978	0	11	53					G	162680679	A	G	162680679	3	3	195	1	0	0	0	0	1	0	0	0	6080	449	16	4	1976	4	FSTL5	4	162680679	Missense_Mutation	SNP	A	TCGA-HC-7075-01A-11D-1961-08	7523501	162680679	28473597	11	9035											
CLCN3	1182	broad.mit.edu	37	chr4	170625197	170625197	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tggccattggagcgatcgcaGgaaggattgtggggattgcg	8	9	18	6	3	0	0	0	0	0	0	1	5	0	4	1	6	2	1	1	6	1	3			TCGA-HC-7075-01A-11D-1961-08	TCGA-HC-7075-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddc422e4-87e2-4fc0-b56b-ddc2d6a92f58	f10cbfd4-a508-4061-a2b0-767db51dc211	g.chr4:170625197G>C	ENST00000513761.1	+	10	2171	c.1612G>C	c.(1612-1614)Gga>Cga	p.G538R	CLCN3_ENST00000360642.3_Missense_Mutation_p.G511R|CLCN3_ENST00000504131.2_Missense_Mutation_p.G521R|CLCN3_ENST00000347613.4_Missense_Mutation_p.G538R	NM_001829.3	NP_001820.2	P51790	CLCN3_HUMAN	chloride channel, voltage-sensitive 3	538					chloride transmembrane transport (GO:1902476)|endosomal lumen acidification (GO:0048388)|ion transmembrane transport (GO:0034220)|regulation of anion transport (GO:0044070)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|membrane (GO:0016020)|vesicle membrane (GO:0012506)	antiporter activity (GO:0015297)|ATP binding (GO:0005524)|chloride channel activity (GO:0005254)|PDZ domain binding (GO:0030165)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|voltage-gated chloride channel activity (GO:0005247)			breast(5)|endometrium(3)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	29		Prostate(90;0.00601)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0233)|LUSC - Lung squamous cell carcinoma(193;0.131)		AGCGATCGCAGGAAGGATTGT	0.507																																						ENST00000513761.1																			0				breast(5)|endometrium(3)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	29						c.(1612-1614)Gga>Cga		chloride channel, voltage-sensitive 3							219	183	195					4																	170625197		2203	4300	6503	SO:0001583	missense	0				endosomal lumen acidification	cell surface|early endosome membrane|Golgi membrane|integral to membrane|late endosome membrane|transport vesicle membrane	antiporter activity|ATP binding|PDZ domain binding|protein heterodimerization activity|protein homodimerization activity|voltage-gated chloride channel activity	g.chr4:170625197G>C	X78520	CCDS34100.1, CCDS34101.1, CCDS58932.1, CCDS75208.1	4q	2012-09-26	2012-02-23		ENSG00000109572	ENSG00000109572		"Ion channels / Chloride channels : Voltage-sensitive"	2021	protein-coding gene	gene with protein product		600580	"chloride channel 3"				Standard	NM_001243374		Approved	CLC3, ClC-3	uc003ish.3	P51790	OTTHUMG00000160973	ENST00000513761.1:c.1612G>C	4.37:g.170625197G>C	ENSP00000424603:p.Gly538Arg					CLCN3_ENST00000504131.2_Missense_Mutation_p.G521R|CLCN3_ENST00000347613.4_Missense_Mutation_p.G538R|CLCN3_ENST00000360642.3_Missense_Mutation_p.G511R	p.G538R	NM_001829.3	NP_001820.2	P51790	CLCN3_HUMAN		GBM - Glioblastoma multiforme(119;0.0233)|LUSC - Lung squamous cell carcinoma(193;0.131)	10	2171	+		Prostate(90;0.00601)|Renal(120;0.0183)	538					B7Z932|B9EGJ9|D3DP34|E9PB97|O14918|Q86Z21	Missense_Mutation	SNP	ENST00000513761.1	37	c.1612G>C	CCDS34101.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.64|19.64	3.865395|3.865395	0.71949|0.71949	.|.	.|.	ENSG00000109572|ENSG00000109572	ENST00000513761;ENST00000347613;ENST00000360642;ENST00000504131;ENST00000507875|ENST00000515420	D;D;D;D;D|.	0.99701|.	-6.45;-6.45;-6.45;-6.45;-6.45|.	5.22|5.22	5.22|5.22	0.72569|0.72569	Chloride channel, core (2);|.	0.046822|.	0.85682|.	D|.	0.000000|.	D|D	0.91798|0.91798	0.7405|0.7405	H|H	0.99454|0.99454	4.575|4.575	0.80722|0.80722	D|D	1|1	D;D;D;D;D|.	0.76494|.	0.998;0.999;0.999;0.998;0.999|.	D;D;D;D;D|.	0.83275|.	0.996;0.996;0.996;0.996;0.992|.	D|D	0.95287|0.95287	0.8391|0.8391	10|5	0.87932|.	D|.	0|.	-2.8959|-2.8959	19.2046|19.2046	0.93724|0.93724	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	511;521;511;538;538|.	B7Z932;B9EGJ9;E9PE15;P51790;P51790-2|.	.;.;.;CLCN3_HUMAN;.|.	R|H	538;538;511;521;511|192	ENSP00000424603:G538R;ENSP00000261514:G538R;ENSP00000353857:G511R;ENSP00000424540:G521R;ENSP00000425323:G511R|.	ENSP00000261514:G538R|.	G|Q	+|+	1|3	0|2	CLCN3|CLCN3	170861772|170861772	1.000000|1.000000	0.71417|0.71417	0.135000|0.135000	0.22099|0.22099	0.322000|0.322000	0.28314|0.28314	9.810000|9.810000	0.99221|0.99221	2.616000|2.616000	0.88540|0.88540	0.549000|0.549000	0.68633|0.68633	GGA|CAG		0.507	CLCN3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000363210.2			13	70	0	0	0	0.001855	0	13	70					C	170625197	G	C	170625197	3	2	195	1	0	0	0	0	1	0	0	0	3464	1001	35	5	1646	5	CLCN3	4	170625197	Missense_Mutation	SNP	G	TCGA-HC-7075-01A-11D-1961-08	7944518	170625197	20529079	12	9036											
HAPLN1	1404	broad.mit.edu	37	chr5	82940276	82940276	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ccgggcactgtgttctgcccCccacagggctctctgggctt	3	10	12	16	1	2	0	0	0	2	0	3	0	2	0	4	3	1	4	4	3	0	2			TCGA-HC-7075-01A-11D-1961-08	TCGA-HC-7075-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddc422e4-87e2-4fc0-b56b-ddc2d6a92f58	f10cbfd4-a508-4061-a2b0-767db51dc211	g.chr5:82940276C>A	ENST00000274341.4	-	4	1531	c.681G>T	c.(679-681)ggG>ggT	p.G227G		NM_001884.3	NP_001875.1	P10915	HPLN1_HUMAN	hyaluronan and proteoglycan link protein 1	227	Link 1. {ECO:0000255|PROSITE- ProRule:PRU00323}.				cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	hyaluronic acid binding (GO:0005540)			breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|liver(1)|lung(15)|ovary(1)|prostate(1)|skin(1)	34		Lung NSC(167;0.0484)|all_lung(232;0.0522)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;7.82e-42)|Epithelial(54;5.88e-35)|all cancers(79;1.14e-29)	Hyaluronan(DB08818)	TGTTCTGCCCCCCACAGGGCT	0.517																																						ENST00000274341.4																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|liver(1)|lung(15)|ovary(1)|prostate(1)|skin(1)	34						c.(679-681)ggG>ggT		hyaluronan and proteoglycan link protein 1							52	59	57					5																	82940276		2203	4300	6503	SO:0001819	synonymous_variant	1404				cell adhesion	proteinaceous extracellular matrix	hyaluronic acid binding	g.chr5:82940276C>A		CCDS4061.1	5q14.3	2013-01-11	2004-03-16	2004-03-17	ENSG00000145681	ENSG00000145681		"Immunoglobulin superfamily / V-set domain containing"	2380	protein-coding gene	gene with protein product	"Cartilage link protein", "hyaluronan and proteoglycan link protein 1"	115435	"cartilage linking protein 1"	CRTL1		2286376, 2320422	Standard	NM_001884		Approved		uc003kin.3	P10915	OTTHUMG00000119045	ENST00000274341.4:c.681G>T	5.37:g.82940276C>A							p.G227G	NM_001884.3	NP_001875.1	P10915	HPLN1_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;7.82e-42)|Epithelial(54;5.88e-35)|all cancers(79;1.14e-29)	4	1531	-		Lung NSC(167;0.0484)|all_lung(232;0.0522)|Ovarian(174;0.142)	227			Link 1.		B2R9A9	Silent	SNP	ENST00000274341.4	37	c.681G>T	CCDS4061.1																																																																																				0.517	HAPLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239256.2	NM_001884		19	87	1	0	1.87028e-06	0.001882	3.66722e-06	19	87					A	82940276	C	A	82940276	2	1	195	1	0	0	0	0	0	0	0	1	6954	610	22	5		5	HAPLN1	5	82940276	Silent	SNP	C	TCGA-HC-7075-01A-11D-1961-08		82940276	97974984	13	9037											
TMEM217	221468	broad.mit.edu	37	chr6	37186257	37186257	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gccactgaacccactcgaaaTtgataatcttttatttctgc	11	14	5	11	1	2	2	0	2	2	0	3	3	2	2	2	0	2	0	2	0	4	5			TCGA-HC-7075-01A-11D-1961-08	TCGA-HC-7075-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddc422e4-87e2-4fc0-b56b-ddc2d6a92f58	f10cbfd4-a508-4061-a2b0-767db51dc211	g.chr6:37186257T>C	ENST00000336655.2	-	2	589	c.550A>G	c.(550-552)Att>Gtt	p.I184V	TMEM217_ENST00000356757.2_Missense_Mutation_p.I184V|TMEM217_ENST00000497775.1_Intron	NM_145316.3	NP_660359.2	Q8N7C4	TM217_HUMAN	transmembrane protein 217	184						integral component of membrane (GO:0016021)				endometrium(2)|kidney(1)|large_intestine(5)|lung(1)	9						ccACTCGAAATTGATAATCTT	0.478																																						ENST00000336655.2																			0				endometrium(2)|kidney(1)|large_intestine(5)|lung(1)	9						c.(550-552)Att>Gtt		transmembrane protein 217							59	63	62					6																	37186257		2203	4300	6503	SO:0001583	missense	221468					integral to membrane		g.chr6:37186257T>C		CCDS4831.1, CCDS69102.1	6p21.31-p21.2	2008-10-20	2008-07-07	2008-07-07	ENSG00000172738	ENSG00000172738			21238	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 128"	C6orf128			Standard	NM_001162900		Approved	dJ355M6.2	uc010jws.3	Q8N7C4	OTTHUMG00000014618	ENST00000336655.2:c.550A>G	6.37:g.37186257T>C	ENSP00000338164:p.Ile184Val					TMEM217_ENST00000497775.1_Intron|TMEM217_ENST00000356757.2_Missense_Mutation_p.I184V	p.I184V	NM_145316.3	NP_660359.2	Q8N7C4	TM217_HUMAN			2	589	-			184					Q8TC54	Missense_Mutation	SNP	ENST00000336655.2	37	c.550A>G	CCDS4831.1	.	.	.	.	.	.	.	.	.	.	t	0.008	-1.887541	0.00527	.	.	ENSG00000172738	ENST00000356757;ENST00000336655	.	.	.	3.56	-4.09	0.03951	.	.	.	.	.	T	0.02848	0.0085	N	0.02011	-0.69	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.44544	-0.9321	8	0.07482	T	0.82	-1.0846	9.683	0.40080	0.0:0.2152:0.0:0.7848	.	184;184	Q8N7C4-2;Q8N7C4	.;TM217_HUMAN	V	184	.	ENSP00000338164:I184V	I	-	1	0	TMEM217	37294235	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.525000	0.06214	-0.938000	0.03714	-1.564000	0.00881	ATT		0.478	TMEM217-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000357542.1	NM_145316		4	113	0	0	0	0.000248	0	4	113					C	37186257	T	C	37186257	3	2	195	1	0	0	0	0	1	0	0	0	16137	1493	52	4	151	4	TMEM217	6	37186257	Missense_Mutation	SNP	T	TCGA-HC-7075-01A-11D-1961-08		37186257	133928810	14	9038											
PREP	5550	broad.mit.edu	37	chr6	105821366	105821366	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gaagctctttggcaccatcaActttcatgaacttgattgtc	10	14	7	10	0	3	2	2	2	1	0	4	3	3	2	1	1	3	2	1	1	3	4			TCGA-HC-7075-01A-11D-1961-08	TCGA-HC-7075-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddc422e4-87e2-4fc0-b56b-ddc2d6a92f58	f10cbfd4-a508-4061-a2b0-767db51dc211	g.chr6:105821366A>C	ENST00000369110.3	-	5	665	c.473T>G	c.(472-474)gTt>gGt	p.V158G		NM_002726.4	NP_002717.3	P48147	PPCE_HUMAN	prolyl endopeptidase	158					proteolysis (GO:0006508)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	serine-type endopeptidase activity (GO:0004252)|serine-type exopeptidase activity (GO:0070008)|serine-type peptidase activity (GO:0008236)			breast(1)|endometrium(2)|large_intestine(7)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29		all_cancers(87;0.000128)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0344)|Lung NSC(302;0.191)|Colorectal(196;0.202)			Oxytocin(DB00107)	GGCACCATCAACTTTCATGAA	0.473																																						ENST00000369110.3																			0				breast(1)|endometrium(2)|large_intestine(7)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29						c.(472-474)gTt>gGt		prolyl endopeptidase	Oxytocin(DB00107)						149	128	135					6																	105821366		2203	4300	6503	SO:0001583	missense	5550				proteolysis		serine-type endopeptidase activity	g.chr6:105821366A>C		CCDS5053.1	6q22	2008-02-05			ENSG00000085377	ENSG00000085377	3.4.21.26		9358	protein-coding gene	gene with protein product		600400				7959018	Standard	NM_002726		Approved		uc003prc.3	P48147	OTTHUMG00000015297	ENST00000369110.3:c.473T>G	6.37:g.105821366A>C	ENSP00000358106:p.Val158Gly						p.V158G	NM_002726.4	NP_002717.3	P48147	PPCE_HUMAN			5	665	-		all_cancers(87;0.000128)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0344)|Lung NSC(302;0.191)|Colorectal(196;0.202)	158					Q8N6D4	Missense_Mutation	SNP	ENST00000369110.3	37	c.473T>G	CCDS5053.1	.	.	.	.	.	.	.	.	.	.	A	23.5	4.421455	0.83559	.	.	ENSG00000085377	ENST00000369110	T	0.48201	0.82	6.02	6.02	0.97574	Peptidase S9A, oligopeptidase, N-terminal (1);Peptidase S9A/B/C, oligopeptidase, N-terminal beta-propeller (2);	0.000000	0.85682	D	0.000000	T	0.73313	0.3571	M	0.92784	3.345	0.80722	D	1	P	0.34977	0.478	P	0.60415	0.874	T	0.76482	-0.2943	10	0.87932	D	0	-25.8368	16.542	0.84395	1.0:0.0:0.0:0.0	.	158	P48147	PPCE_HUMAN	G	158	ENSP00000358106:V158G	ENSP00000358106:V158G	V	-	2	0	PREP	105928059	1.000000	0.71417	0.957000	0.39632	0.996000	0.88848	8.962000	0.93254	2.304000	0.77564	0.528000	0.53228	GTT		0.473	PREP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041658.1			10	83	0	0	0	0.006214	0	10	83					C	105821366	A	C	105821366	3	2	195	1	0	0	0	0	1	0	0	0	12474	43	2	5	1703	5	PREP	6	105821366	Missense_Mutation	SNP	A	TCGA-HC-7075-01A-11D-1961-08	68635109	105821366	65293701	15	9039											
PAX4	5078	broad.mit.edu	37	chr7	127255106	127255106	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttggctccaagacacctgtgCggtagtaacgccctaggatc	9	9	11	12	2	0	1	0	0	0	1	2	2	1	2	3	3	2	3	3	3	4	4			TCGA-HC-7075-01A-11D-1961-08	TCGA-HC-7075-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddc422e4-87e2-4fc0-b56b-ddc2d6a92f58	f10cbfd4-a508-4061-a2b0-767db51dc211	g.chr7:127255106C>T	ENST00000341640.2	-	2	369	c.164G>A	c.(163-165)cGc>cAc	p.R55H	PAX4_ENST00000463946.1_Missense_Mutation_p.R53H|PAX4_ENST00000378740.2_Missense_Mutation_p.R55H|PAX4_ENST00000338516.3_Missense_Mutation_p.R63H	NM_006193.2	NP_006184.2	O43316	PAX4_HUMAN	paired box 4	63	Paired. {ECO:0000255|PROSITE- ProRule:PRU00381}.				cell differentiation (GO:0030154)|circadian rhythm (GO:0007623)|endocrine pancreas development (GO:0031018)|negative regulation of apoptotic process (GO:0043066)|organ morphogenesis (GO:0009887)|positive regulation of cell differentiation (GO:0045597)|response to cAMP (GO:0051591)|response to drug (GO:0042493)|retina development in camera-type eye (GO:0060041)	nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001206)			cervix(1)|kidney(2)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						GACACCTGTGCGGTAGTAACG	0.572																																					Ovarian(113;737 1605 7858 27720 34092)	ENST00000341640.2																			0				cervix(1)|kidney(2)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						c.(163-165)cGc>cAc		paired box 4							94	88	90					7																	127255106		2203	4300	6503	SO:0001583	missense	5078				cell differentiation|endocrine pancreas development|organ morphogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:127255106C>T		CCDS5797.1	7q32.1	2011-06-20	2007-07-12		ENSG00000106331	ENSG00000106331		"Paired boxes", "Homeoboxes / PRD class"	8618	protein-coding gene	gene with protein product		167413	"paired box gene 4"				Standard	NM_006193		Approved	MODY9	uc010lld.1	O43316	OTTHUMG00000157562	ENST00000341640.2:c.164G>A	7.37:g.127255106C>T	ENSP00000339906:p.Arg55His					PAX4_ENST00000338516.3_Missense_Mutation_p.R63H|PAX4_ENST00000378740.2_Missense_Mutation_p.R55H|PAX4_ENST00000463946.1_Missense_Mutation_p.R53H	p.R55H	NM_006193.2	NP_006184.2	O43316	PAX4_HUMAN			2	369	-			63			Paired.		O95161|Q6B0H0	Missense_Mutation	SNP	ENST00000341640.2	37	c.164G>A	CCDS5797.1	.	.	.	.	.	.	.	.	.	.	C	24.0	4.482891	0.84747	.	.	ENSG00000106331	ENST00000341640;ENST00000338516;ENST00000378740;ENST00000463946	D;D;D	0.99338	-5.76;-5.76;-5.76	5.73	5.73	0.89815	Paired box protein, N-terminal (4);Winged helix-turn-helix transcription repressor DNA-binding (1);Homeodomain-like (1);	0.052608	0.85682	D	0.000000	D	0.98998	0.9658	L	0.55481	1.735	0.44677	D	0.997666	D;D;D;D	0.89917	0.999;1.0;0.999;1.0	D;D;D;D	0.73380	0.949;0.973;0.98;0.974	D	0.98452	1.0592	10	0.87932	D	0	.	10.7773	0.46356	0.0:0.9144:0.0:0.0856	.	55;53;63;53	O43316-4;Q1W386;O43316;G3V4Q1	.;.;PAX4_HUMAN;.	H	55;63;63;53	ENSP00000339906:R55H;ENSP00000344297:R63H;ENSP00000451923:R53H	ENSP00000344297:R63H	R	-	2	0	PAX4	127042342	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	2.413000	0.44618	2.693000	0.91896	0.655000	0.94253	CGC		0.572	PAX4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000349165.1			27	114	0	0	0	0.005443	0	27	114					T	127255106	C	T	127255106	3	4	195	1	0	0	0	0	1	0	0	0	11481	768	27	1	899	1	PAX4	7	127255106	Missense_Mutation	SNP	C	TCGA-HC-7075-01A-11D-1961-08		127255106	31883557	16	9040											
ANK1	286	broad.mit.edu	37	chr8	41557063	41557063	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttgaagctgatgagttctTcccctgaaacagcaagagct	11	10	9	11	0	1	5	0	4	1	1	2	5	2	5	3	0	4	4	3	0	3	3			TCGA-HC-7075-01A-11D-1961-08	TCGA-HC-7075-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddc422e4-87e2-4fc0-b56b-ddc2d6a92f58	f10cbfd4-a508-4061-a2b0-767db51dc211	g.chr8:41557063T>G	ENST00000347528.4	-	23	2548	c.2465A>C	c.(2464-2466)gAa>gCa	p.E822A	ANK1_ENST00000289734.7_Missense_Mutation_p.E822A|ANK1_ENST00000379758.2_Missense_Mutation_p.E822A|ANK1_ENST00000396942.1_Missense_Mutation_p.E822A|ANK1_ENST00000396945.1_Missense_Mutation_p.E822A|ANK1_ENST00000352337.4_Missense_Mutation_p.E822A|ANK1_ENST00000265709.8_Missense_Mutation_p.E863A	NM_020475.2|NM_020476.2|NM_020477.2	NP_065208.2|NP_065209.2|NP_065210.2	P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	822	89 kDa domain.				axon guidance (GO:0007411)|cytoskeleton organization (GO:0007010)|ER to Golgi vesicle-mediated transport (GO:0006888)|erythrocyte development (GO:0048821)|exocytosis (GO:0006887)|maintenance of epithelial cell apical/basal polarity (GO:0045199)|monovalent inorganic cation transport (GO:0015672)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of organelle organization (GO:0010638)|protein targeting to plasma membrane (GO:0072661)|signal transduction (GO:0007165)	axolemma (GO:0030673)|basolateral plasma membrane (GO:0016323)|cortical cytoskeleton (GO:0030863)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|M band (GO:0031430)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|cytoskeletal adaptor activity (GO:0008093)|enzyme binding (GO:0019899)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			GATGAGTTCTTCCCCTGAAAC	0.522																																						ENST00000396942.1																			0				breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122						c.(2464-2466)gAa>gCa		ankyrin 1, erythrocytic							101	96	98					8																	41557063		2203	4300	6503	SO:0001583	missense	286				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton	g.chr8:41557063T>G	M28880	CCDS6119.1, CCDS6121.1, CCDS6122.1, CCDS47849.1, CCDS55227.1	8p11.21	2013-01-10			ENSG00000029534	ENSG00000029534		"Ankyrin repeat domain containing"	492	protein-coding gene	gene with protein product		612641		ANK		1689849	Standard	NM_001142445		Approved	SPH1	uc003xom.3	P16157	OTTHUMG00000150281	ENST00000347528.4:c.2465A>C	8.37:g.41557063T>G	ENSP00000339620:p.Glu822Ala					ANK1_ENST00000289734.7_Missense_Mutation_p.E822A|ANK1_ENST00000352337.4_Missense_Mutation_p.E822A|ANK1_ENST00000396945.1_Missense_Mutation_p.E822A|ANK1_ENST00000379758.2_Missense_Mutation_p.E822A|ANK1_ENST00000347528.4_Missense_Mutation_p.E822A|ANK1_ENST00000265709.8_Missense_Mutation_p.E863A	p.E822A			P16157	ANK1_HUMAN	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)		23	2548	-	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	822			89 kDa domain.		A0PJN8|A6NJ23|E5RFL7|O43400|Q13768|Q53ER1|Q59FP2|Q8N604|Q99407	Missense_Mutation	SNP	ENST00000347528.4	37	c.2465A>C	CCDS6119.1	.	.	.	.	.	.	.	.	.	.	T	12.01	1.810435	0.32053	.	.	ENSG00000029534	ENST00000347528;ENST00000289734;ENST00000379758;ENST00000396945;ENST00000396942;ENST00000352337;ENST00000265709;ENST00000358820	T;T;T;T;T;T;T	0.66995	-0.23;-0.24;-0.21;-0.19;-0.21;-0.2;-0.15	5.49	5.49	0.81192	.	0.164003	0.52532	D	0.000061	T	0.75206	0.3818	M	0.81802	2.56	0.58432	D	0.999994	P;B;B;B;P;B	0.36465	0.554;0.027;0.008;0.003;0.554;0.004	P;B;B;B;P;B	0.48488	0.579;0.051;0.016;0.016;0.579;0.004	T	0.72050	-0.4407	10	0.18710	T	0.47	.	12.9644	0.58475	0.0:0.0:0.0:1.0	.	863;822;822;822;822;138	P16157-21;P16157-4;P16157;P16157-5;P16157-3;B3KX39	.;.;ANK1_HUMAN;.;.;.	A	822;822;822;822;822;822;863;822	ENSP00000339620:E822A;ENSP00000289734:E822A;ENSP00000369082:E822A;ENSP00000380149:E822A;ENSP00000380147:E822A;ENSP00000309131:E822A;ENSP00000265709:E863A	ENSP00000265709:E863A	E	-	2	0	ANK1	41676220	1.000000	0.71417	0.995000	0.50966	0.107000	0.19398	4.400000	0.59709	2.085000	0.62840	0.533000	0.62120	GAA		0.522	ANK1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317297.1	NM_020475		50	155	0	0	0	0.00361	0	50	155					G	41557063	T	G	41557063	3	3	195	1	0	0	0	0	1	0	0	0	620	1783	62	5	3586	5	ANK1	8	41557063	Missense_Mutation	SNP	T	TCGA-HC-7075-01A-11D-1961-08		41557063	104806959	17	9041											
ENPP2	5168	broad.mit.edu	37	chr8	120575111	120575111	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actcacattgcagctctcctCgttgtcaggccggtgaggca	7	10	11	13	2	3	1	2	1	1	0	5	1	3	1	2	3	2	4	2	3	0	2			TCGA-HC-7075-01A-11D-1961-08	TCGA-HC-7075-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddc422e4-87e2-4fc0-b56b-ddc2d6a92f58	f10cbfd4-a508-4061-a2b0-767db51dc211	g.chr8:120575111C>A	ENST00000075322.6	-	24	2465	c.2407G>T	c.(2407-2409)Gag>Tag	p.E803*	ENPP2_ENST00000522826.1_Nonsense_Mutation_p.E828*|ENPP2_ENST00000522167.1_Nonsense_Mutation_p.E438*|ENPP2_ENST00000427067.2_Nonsense_Mutation_p.E824*|ENPP2_ENST00000259486.6_Nonsense_Mutation_p.E855*	NM_001040092.2	NP_001035181.1	Q13822	ENPP2_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 2	803					cellular component movement (GO:0006928)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylcholine catabolic process (GO:0034638)|phospholipid catabolic process (GO:0009395)|regulation of cell migration (GO:0030334)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	alkylglycerophosphoethanolamine phosphodiesterase activity (GO:0047391)|calcium ion binding (GO:0005509)|hydrolase activity (GO:0016787)|lysophospholipase activity (GO:0004622)|nucleic acid binding (GO:0003676)|nucleotide diphosphatase activity (GO:0004551)|phosphodiesterase I activity (GO:0004528)|polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(30)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)	69	Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			CAGCTCTCCTCGTTGTCAGGC	0.483																																					Melanoma(20;305 879 2501 4818 31020)	ENST00000427067.2																			0				breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(30)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)	69						c.(2470-2472)Gag>Tag		ectonucleotide pyrophosphatase/phosphodiesterase 2							104	93	97					8																	120575111		2203	4300	6503	SO:0001587	stop_gained	0				cellular component movement|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|phosphate metabolic process|phosphatidylcholine catabolic process|regulation of cell migration	extracellular space|integral to plasma membrane	alkylglycerophosphoethanolamine phosphodiesterase activity|calcium ion binding|lysophospholipase activity|nucleic acid binding|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity|transcription factor binding|zinc ion binding	g.chr8:120575111C>A	D45421	CCDS6329.1, CCDS34936.1, CCDS47914.1	8q24.12	2014-04-09	2008-08-01		ENSG00000136960	ENSG00000136960	3.1.4.1, 3.6.1.9		3357	protein-coding gene	gene with protein product	"autotaxin"	601060		PDNP2		8586446	Standard	NM_001040092		Approved	ATX, PD-IALPHA	uc003yos.2	Q13822	OTTHUMG00000164995	ENST00000075322.6:c.2407G>T	8.37:g.120575111C>A	ENSP00000075322:p.Glu803*					ENPP2_ENST00000522167.1_Nonsense_Mutation_p.E438*|ENPP2_ENST00000259486.6_Nonsense_Mutation_p.E855*|ENPP2_ENST00000522826.1_Nonsense_Mutation_p.E828*|ENPP2_ENST00000075322.6_Nonsense_Mutation_p.E803*	p.E824*			Q13822	ENPP2_HUMAN	STAD - Stomach adenocarcinoma(47;0.00185)		25	2650	-	Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		803					A8UHA1|E9PHP7|Q13827|Q14555|Q15117|Q9UCQ8|Q9UCR0|Q9UCR1|Q9UCR2|Q9UCR3|Q9UCR4	Nonsense_Mutation	SNP	ENST00000075322.6	37	c.2470G>T	CCDS34936.1	.	.	.	.	.	.	.	.	.	.	C	38	6.708667	0.97780	.	.	ENSG00000136960	ENST00000259486;ENST00000427067;ENST00000522167;ENST00000522826;ENST00000075322	.	.	.	5.8	5.8	0.92144	.	0.481873	0.25094	N	0.033188	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.07482	T	0.82	.	20.0589	0.97667	0.0:1.0:0.0:0.0	.	.	.	.	X	855;824;438;828;803	.	ENSP00000075322:E803X	E	-	1	0	ENPP2	120644292	1.000000	0.71417	0.319000	0.25293	0.901000	0.52897	4.884000	0.63135	2.732000	0.93576	0.650000	0.86243	GAG		0.483	ENPP2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000381390.1			5	79	1	0	3.59834e-05	0.001168	6.91988e-05	5	79					A	120575111	C	A	120575111	4	1	195	1	0	0	0	0	0	1	0	0	5130	893	31	5	192	5	ENPP2	8	120575111	Nonsense_Mutation	SNP	C	TCGA-HC-7075-01A-11D-1961-08	79018048	120575111	25788911	18	9042											
CSGALNACT2	55454	broad.mit.edu	37	chr10	43650664	43650664	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgttgggccttgctttgctcTgcagtttggtattatttatg	4	20	11	6	0	1	0	0	0	1	0	1	0	1	0	1	2	3	6	1	2	3	8			TCGA-HC-7075-01A-11D-1961-08	TCGA-HC-7075-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddc422e4-87e2-4fc0-b56b-ddc2d6a92f58	f10cbfd4-a508-4061-a2b0-767db51dc211	g.chr10:43650664T>A	ENST00000374466.3	+	2	402	c.67T>A	c.(67-69)Tgc>Agc	p.C23S	CSGALNACT2_ENST00000374464.1_Missense_Mutation_p.C23S	NM_018590.3	NP_061060.3	Q8N6G5	CGAT2_HUMAN	chondroitin sulfate N-acetylgalactosaminyltransferase 2	23					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|chondroitin sulfate proteoglycan biosynthetic process (GO:0050650)|chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process (GO:0050653)|dermatan sulfate proteoglycan biosynthetic process (GO:0050651)|dermatan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process (GO:0050652)|glycosaminoglycan metabolic process (GO:0030203)|proteoglycan biosynthetic process (GO:0030166)|small molecule metabolic process (GO:0044281)	Golgi cisterna membrane (GO:0032580)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)|membrane (GO:0016020)	acetylgalactosaminyltransferase activity (GO:0008376)|glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity (GO:0047237)|metal ion binding (GO:0046872)			endometrium(12)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						TGCTTTGCTCTGCAGTTTGGT	0.438																																						ENST00000374466.3																			0				endometrium(12)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						c.(67-69)Tgc>Agc		chondroitin sulfate N-acetylgalactosaminyltransferase 2							118	103	108					10																	43650664		2203	4300	6503	SO:0001583	missense	55454				chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|dermatan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process	Golgi cisterna membrane|integral to Golgi membrane	glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding	g.chr10:43650664T>A	AF116646	CCDS7201.1	10q11.21	2013-02-19			ENSG00000169826	ENSG00000169826		"Beta 4-glycosyltransferases"	24292	protein-coding gene	gene with protein product	"chondroitin beta1,4 N-acetylgalactosaminyltransferase 2"					12446672	Standard	NM_018590		Approved	GALNACT2, MGC40204, PRO0082, GALNACT-2	uc001jan.4	Q8N6G5	OTTHUMG00000018023	ENST00000374466.3:c.67T>A	10.37:g.43650664T>A	ENSP00000363590:p.Cys23Ser					CSGALNACT2_ENST00000374464.1_Missense_Mutation_p.C23S	p.C23S	NM_018590.3	NP_061060.3	Q8N6G5	CGAT2_HUMAN			2	402	+			23					B3KWL7|Q6MZJ5|Q6MZP6|Q8TCH4|Q9P1I6	Missense_Mutation	SNP	ENST00000374466.3	37	c.67T>A	CCDS7201.1	.	.	.	.	.	.	.	.	.	.	T	14.36	2.513092	0.44660	.	.	ENSG00000169826	ENST00000374466;ENST00000374464	T;T	0.23754	1.92;1.89	5.86	5.86	0.93980	.	0.193780	0.56097	D	0.000030	T	0.27559	0.0677	L	0.49778	1.585	0.27360	N	0.955988	B;B	0.17465	0.022;0.008	B;B	0.15052	0.012;0.009	T	0.10847	-1.0612	10	0.41790	T	0.15	-7.8942	16.2644	0.82568	0.0:0.0:0.0:1.0	.	23;23	Q8N6G5;Q8N6G5-2	CGAT2_HUMAN;.	S	23	ENSP00000363590:C23S;ENSP00000363588:C23S	ENSP00000363588:C23S	C	+	1	0	CSGALNACT2	42970670	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	2.862000	0.48388	2.244000	0.73946	0.528000	0.53228	TGC		0.438	CSGALNACT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047693.1	NM_018590		5	84	0	0	0	0.001168	0	5	84					A	43650664	T	A	43650664	3	1	195	1	0	0	0	0	1	0	0	0	3939	1580	55	5	69	5	CSGALNACT2	10	43650664	Missense_Mutation	SNP	T	TCGA-HC-7075-01A-11D-1961-08		43650664	91884083	19	9043											
MYOF	26509	broad.mit.edu	37	chr10	95089443	95089443	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acagtactcctctggtatgcCgcagtgggacccaaagcggg	9	7	13	12	2	1	0	0	0	1	0	2	1	2	1	3	3	3	3	3	3	3	2	rs200675152		TCGA-HC-7075-01A-11D-1961-08	TCGA-HC-7075-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddc422e4-87e2-4fc0-b56b-ddc2d6a92f58	f10cbfd4-a508-4061-a2b0-767db51dc211	g.chr10:95089443C>T	ENST00000359263.4	-	44	4959	c.4960G>A	c.(4960-4962)Ggc>Agc	p.G1654S	MYOF_ENST00000485212.1_5'UTR|MYOF_ENST00000371502.4_Missense_Mutation_p.G1673S|MYOF_ENST00000371501.4_Missense_Mutation_p.G1654S|MYOF_ENST00000358334.5_Missense_Mutation_p.G1641S	NM_013451.3	NP_038479.1	Q9NZM1	MYOF_HUMAN	myoferlin	1654					blood circulation (GO:0008015)|cellular response to heat (GO:0034605)|muscle contraction (GO:0006936)|plasma membrane repair (GO:0001778)|regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030947)	caveola (GO:0005901)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)	phospholipid binding (GO:0005543)			NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						TCTGGTATGCCGCAGTGGGAC	0.483																																						ENST00000371501.4																			0				NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						c.(4960-4962)Ggc>Agc		myoferlin							87	87	87					10																	95089443		1914	4128	6042	SO:0001583	missense	26509				blood circulation|muscle contraction|plasma membrane repair	caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane	phospholipid binding|protein binding	g.chr10:95089443C>T	AB033033	CCDS41550.1, CCDS41551.1	10q24	2014-06-27	2008-11-26	2008-11-26	ENSG00000138119	ENSG00000138119			3656	protein-coding gene	gene with protein product	"fer-1-like family member 3"	604603	"fer-1 (C.elegans)-like 3 (myoferlin)", "fer-1-like 3, myoferlin (C. elegans)"	FER1L3		10607832, 10995573, 17702744	Standard	NM_013451		Approved	KIAA1207	uc001kin.3	Q9NZM1	OTTHUMG00000018772	ENST00000359263.4:c.4960G>A	10.37:g.95089443C>T	ENSP00000352208:p.Gly1654Ser					MYOF_ENST00000359263.4_Missense_Mutation_p.G1654S|MYOF_ENST00000485212.1_5'UTR|MYOF_ENST00000371502.4_Missense_Mutation_p.G1673S|MYOF_ENST00000358334.5_Missense_Mutation_p.G1641S	p.G1654S			Q9NZM1	MYOF_HUMAN			44	5082	-			1654					B3KQN5|Q5VWW2|Q5VWW3|Q5VWW4|Q5VWW5|Q7Z642|Q8IWH0|Q9HBU3|Q9NZM0|Q9ULL3|Q9Y4U4	Missense_Mutation	SNP	ENST00000359263.4	37	c.4960G>A	CCDS41551.1	.	.	.	.	.	.	.	.	.	.	C	32	5.149046	0.94645	.	.	ENSG00000138119	ENST00000358334;ENST00000359263;ENST00000371501;ENST00000371502	D;D;D;D	0.92048	-2.82;-2.83;-2.82;-2.96	5.3	5.3	0.74995	C2 calcium/lipid-binding domain, CaLB (1);	0.049473	0.85682	N	0.000000	D	0.96904	0.8989	M	0.89601	3.045	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.97064	0.9773	10	0.62326	D	0.03	-17.1626	19.1392	0.93441	0.0:1.0:0.0:0.0	.	1641;1654	Q9NZM1-6;Q9NZM1	.;MYOF_HUMAN	S	1641;1654;1654;1673	ENSP00000351094:G1641S;ENSP00000352208:G1654S;ENSP00000360556:G1654S;ENSP00000360557:G1673S	ENSP00000351094:G1641S	G	-	1	0	MYOF	95079433	1.000000	0.71417	0.995000	0.50966	0.753000	0.42808	7.289000	0.78701	2.765000	0.95021	0.555000	0.69702	GGC		0.483	MYOF-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000049423.2	NM_013451		5	63	0	0	0	0.001168	0	5	63					T	95089443	C	T	95089443	3	4	195	1	0	0	0	0	1	0	0	0	10089	652	23	2	1269	2	MYOF	10	95089443	Missense_Mutation	SNP	C	TCGA-HC-7075-01A-11D-1961-08	51438779	95089443	40445304	20	9044											
NLRP14	338323	broad.mit.edu	37	chr11	7064143	7064143	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgagtagtttgctgaggaaaGtgatgctccctgaggcatcc	9	11	13	8	0	0	4	0	4	0	0	2	5	2	5	2	2	2	5	2	2	2	2			TCGA-HC-7075-01A-11D-1961-08	TCGA-HC-7075-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddc422e4-87e2-4fc0-b56b-ddc2d6a92f58	f10cbfd4-a508-4061-a2b0-767db51dc211	g.chr11:7064143G>T	ENST00000299481.4	+	4	1232	c.886G>T	c.(886-888)Gtg>Ttg	p.V296L		NM_176822.3	NP_789792.1	Q86W24	NAL14_HUMAN	NLR family, pyrin domain containing 14	296	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)		ATP binding (GO:0005524)			breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	21				Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)		GCTGAGGAAAGTGATGCTCCC	0.448																																						ENST00000299481.4																			0				breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	21						c.(886-888)Gtg>Ttg		NLR family, pyrin domain containing 14							78	74	75					11																	7064143		2201	4296	6497	SO:0001583	missense	338323				cell differentiation|multicellular organismal development|spermatogenesis		ATP binding	g.chr11:7064143G>T	BK001107	CCDS7776.1	11p15.4	2006-12-08	2006-12-08	2006-12-08		ENSG00000158077		"Nucleotide-binding domain and leucine rich repeat containing"	22939	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 14"	609665	"NACHT, leucine rich repeat and PYD containing 14"	NALP14		12563287	Standard	NM_176822		Approved	NOD5, GC-LRR, Nalp-iota, PAN8, CLR11.2	uc001mfb.1	Q86W24		ENST00000299481.4:c.886G>T	11.37:g.7064143G>T	ENSP00000299481:p.Val296Leu						p.V296L	NM_176822.3	NP_789792.1	Q86W24	NAL14_HUMAN		Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)	4	1232	+			296			NACHT.		Q7RTR6	Missense_Mutation	SNP	ENST00000299481.4	37	c.886G>T	CCDS7776.1	.	.	.	.	.	.	.	.	.	.	G	16.66	3.184162	0.57800	.	.	ENSG00000158077	ENST00000299481	T	0.78364	-1.17	4.57	2.68	0.31781	NACHT nucleoside triphosphatase (1);	0.549745	0.15256	N	0.272073	T	0.68476	0.3005	L	0.40543	1.245	0.29362	N	0.864603	B	0.29481	0.245	B	0.35182	0.197	T	0.63563	-0.6609	10	0.41790	T	0.15	.	6.3708	0.21481	0.2181:0.0:0.7819:0.0	.	296	Q86W24	NAL14_HUMAN	L	296	ENSP00000299481:V296L	ENSP00000299481:V296L	V	+	1	0	NLRP14	7020719	0.664000	0.27457	0.999000	0.59377	0.978000	0.69477	3.058000	0.49939	1.286000	0.44565	0.655000	0.94253	GTG		0.448	NLRP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384551.1	NM_176822		13	53	1	0	4.3838e-07	0.001855	8.7676e-07	13	53					T	7064143	G	T	7064143	3	4	195	1	0	0	0	0	1	0	0	0	10476	1029	36	5	896	5	NLRP14	11	7064143	Missense_Mutation	SNP	G	TCGA-HC-7075-01A-11D-1961-08		7064143	127942373	21	9045											
CD3G	917	broad.mit.edu	37	chr11	118223127	118223127	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgtcctttccagcccctcaaGgatcgagaagatgaccagta	11	9	9	12	1	1	3	1	1	0	2	4	5	3	4	5	1	1	1	5	1	3	2			TCGA-HC-7075-01A-11D-1961-08	TCGA-HC-7075-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddc422e4-87e2-4fc0-b56b-ddc2d6a92f58	f10cbfd4-a508-4061-a2b0-767db51dc211	g.chr11:118223127G>A	ENST00000532917.1	+	6	560	c.492G>A	c.(490-492)aaG>aaA	p.K164K	CD3G_ENST00000392883.2_Silent_p.K60K|CD3G_ENST00000532903.1_3'UTR	NM_000073.2	NP_000064.1	P09693	CD3G_HUMAN	CD3g molecule, gamma (CD3-TCR complex)	164	ITAM. {ECO:0000255|PROSITE- ProRule:PRU00379}.				cell surface receptor signaling pathway (GO:0007166)|establishment or maintenance of cell polarity (GO:0007163)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|protein complex assembly (GO:0006461)|protein transport (GO:0015031)|regulation of immune response (GO:0050776)|regulation of lymphocyte apoptotic process (GO:0070228)|T cell activation (GO:0042110)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)	alpha-beta T cell receptor complex (GO:0042105)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|T cell receptor complex (GO:0042101)	protein heterodimerization activity (GO:0046982)|receptor signaling complex scaffold activity (GO:0030159)|T cell receptor binding (GO:0042608)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|kidney(1)|large_intestine(2)|skin(1)	6	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.04e-05)	Muromonab(DB00075)	AGCCCCTCAAGGATCGAGAAG	0.393																																						ENST00000532917.1																			0				breast(2)|kidney(1)|large_intestine(2)|skin(1)	6						c.(490-492)aaG>aaA		CD3g molecule, gamma (CD3-TCR complex)							157	164	162					11																	118223127		2200	4296	6496	SO:0001819	synonymous_variant	917				establishment or maintenance of cell polarity|protein complex assembly|protein transport|regulation of apoptosis|T cell activation|T cell costimulation|T cell receptor signaling pathway	integral to plasma membrane|T cell receptor complex	protein heterodimerization activity|receptor signaling complex scaffold activity|T cell receptor binding|transmembrane receptor activity	g.chr11:118223127G>A	X60491	CCDS8395.1	11q23	2014-09-17	2006-03-28		ENSG00000160654	ENSG00000160654		"CD molecules"	1675	protein-coding gene	gene with protein product		186740	"CD3g antigen, gamma polypeptide (TiT3 complex)"				Standard	NM_000073		Approved		uc001psu.2	P09693	OTTHUMG00000166971	ENST00000532917.1:c.492G>A	11.37:g.118223127G>A						CD3G_ENST00000532903.1_3'UTR|CD3G_ENST00000392883.2_Silent_p.K60K	p.K164K	NM_000073.2	NP_000064.1	P09693	CD3G_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.04e-05)	6	560	+	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)	164			ITAM.		Q2HIZ6	Silent	SNP	ENST00000532917.1	37	c.492G>A	CCDS8395.1																																																																																				0.393	CD3G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392135.1	NM_000073		74	118	0	0	0	0.00361	0	74	118					A	118223127	G	A	118223127	2	1	195	1	0	0	0	0	0	0	0	1	3013	991	35	3		3	CD3G	11	118223127	Silent	SNP	G	TCGA-HC-7075-01A-11D-1961-08	111158984	118223127	16783389	22	9046											
SLC38A4	55089	broad.mit.edu	37	chr12	47163194	47163194	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cgtttgggaaataacagtgtGatcactgatgtacgaatctt	12	13	10	6	2	2	2	1	2	1	0	2	4	2	3	0	1	2	2	0	1	4	4			TCGA-HC-7075-01A-11D-1961-08	TCGA-HC-7075-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddc422e4-87e2-4fc0-b56b-ddc2d6a92f58	f10cbfd4-a508-4061-a2b0-767db51dc211	g.chr12:47163194G>C	ENST00000447411.1	-	14	1523	c.1317C>G	c.(1315-1317)atC>atG	p.I439M	SLC38A4_ENST00000266579.4_Missense_Mutation_p.I439M	NM_001143824.1	NP_001137296.1	Q969I6	S38A4_HUMAN	solute carrier family 38, member 4	439					amino acid transport (GO:0006865)|ion transport (GO:0006811)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	amino acid transmembrane transporter activity (GO:0015171)|symporter activity (GO:0015293)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|skin(1)	21	Lung SC(27;0.192)|Renal(347;0.236)					ATAACAGTGTGATCACTGATG	0.363																																						ENST00000447411.1																			0				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|skin(1)	21						c.(1315-1317)atC>atG		solute carrier family 38, member 4							136	127	130					12																	47163194		2203	4300	6503	SO:0001583	missense	55089				cellular nitrogen compound metabolic process|sodium ion transport	integral to membrane|plasma membrane	amino acid transmembrane transporter activity|symporter activity	g.chr12:47163194G>C	AF193836	CCDS8750.1	12q13	2013-05-22				ENSG00000139209		"Solute carriers"	14679	protein-coding gene	gene with protein product		608065				11414754	Standard	NM_018018		Approved	PAAT, NAT3, ATA3	uc001rpj.2	Q969I6		ENST00000447411.1:c.1317C>G	12.37:g.47163194G>C	ENSP00000389843:p.Ile439Met					SLC38A4_ENST00000266579.4_Missense_Mutation_p.I439M	p.I439M	NM_001143824.1	NP_001137296.1	Q969I6	S38A4_HUMAN			14	1523	-	Lung SC(27;0.192)|Renal(347;0.236)		439					A8K553	Missense_Mutation	SNP	ENST00000447411.1	37	c.1317C>G	CCDS8750.1	.	.	.	.	.	.	.	.	.	.	G	7.483	0.649129	0.14516	.	.	ENSG00000139209	ENST00000447411;ENST00000266579	T;T	0.02216	4.39;4.39	5.66	2.67	0.31697	.	0.575223	0.19314	N	0.117305	T	0.04092	0.0114	L	0.38175	1.15	0.26662	N	0.971895	B	0.29955	0.263	P	0.49361	0.608	T	0.41413	-0.9510	10	0.34782	T	0.22	-0.1807	2.5893	0.04838	0.1491:0.1256:0.467:0.2583	.	439	Q969I6	S38A4_HUMAN	M	439	ENSP00000389843:I439M;ENSP00000266579:I439M	ENSP00000266579:I439M	I	-	3	3	SLC38A4	45449461	0.045000	0.20229	0.502000	0.27614	0.862000	0.49288	0.212000	0.17497	0.730000	0.32425	-0.448000	0.05591	ATC		0.363	SLC38A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404574.1			12	60	0	0	0	0.001368	0	12	60					C	47163194	G	C	47163194	3	2	195	1	0	0	0	0	1	0	0	0	14606	1280	45	5	338	5	SLC38A4	12	47163194	Missense_Mutation	SNP	G	TCGA-HC-7075-01A-11D-1961-08		47163194	86688701	23	9047											
ANKS1B	56899	broad.mit.edu	37	chr12	99837459	99837459	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctgggcacttacctggggtcGaatgacttttacaatatttt	9	15	9	8	1	0	1	0	1	0	0	1	2	0	1	1	3	2	1	1	3	5	6			TCGA-HC-7075-01A-11D-1961-08	TCGA-HC-7075-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddc422e4-87e2-4fc0-b56b-ddc2d6a92f58	f10cbfd4-a508-4061-a2b0-767db51dc211	g.chr12:99837459G>A	ENST00000547776.2	-	11	1566	c.1567C>T	c.(1567-1569)Cga>Tga	p.R523*	ANKS1B_ENST00000329257.7_Nonsense_Mutation_p.R523*|ANKS1B_ENST00000547010.1_Nonsense_Mutation_p.R103*	NM_152788.4	NP_690001.3	Q7Z6G8	ANS1B_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1B	523						cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)	ephrin receptor binding (GO:0046875)			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(15)|lung(38)|pancreas(1)|prostate(2)|skin(1)	70		all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209)		OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06)		ACCTGGGGTCGAATGACTTTT	0.423																																						ENST00000547776.2																			0				NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(15)|lung(38)|pancreas(1)|prostate(2)|skin(1)	70						c.(1567-1569)Cga>Tga		ankyrin repeat and sterile alpha motif domain containing 1B							146	141	143					12																	99837459		1887	4113	6000	SO:0001587	stop_gained	56899					Cajal body|cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane		g.chr12:99837459G>A	AF145204	CCDS55864.1, CCDS55865.1, CCDS55866.1, CCDS55867.1, CCDS55868.1, CCDS55869.1, CCDS55870.1, CCDS55871.1, CCDS55872.1	12q23.1	2013-01-10						"Sterile alpha motif (SAM) domain containing", "Ankyrin repeat domain containing"	24600	protein-coding gene	gene with protein product		607815				10490826, 12415113	Standard	NM_020140		Approved	EB-1, AIDA-1, cajalin-2, ANKS2	uc001tge.2	Q7Z6G8		ENST00000547776.2:c.1567C>T	12.37:g.99837459G>A	ENSP00000449629:p.Arg523*					ANKS1B_ENST00000329257.7_Nonsense_Mutation_p.R523*|ANKS1B_ENST00000547010.1_Nonsense_Mutation_p.R103*	p.R523*	NM_152788.4	NP_690001.3	Q7Z6G8	ANS1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06)	11	1566	-		all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209)	523					A5PKY5|A7E259|A8K153|A8MSN4|B4DFP6|B4DH98|F8VPM3|F8VZR9|F8WC27|Q5XLJ0|Q6IVB5|Q6NUS4|Q7Z6G6|Q7Z6G7|Q8TAP3|Q9NRX7|Q9Y5K9	Nonsense_Mutation	SNP	ENST00000547776.2	37	c.1567C>T	CCDS55872.1	.	.	.	.	.	.	.	.	.	.	G	39	7.510718	0.98329	.	.	ENSG00000185046	ENST00000547776;ENST00000547010;ENST00000329257;ENST00000538702;ENST00000549866	.	.	.	6.04	5.14	0.70334	.	0.086088	0.45361	D	0.000362	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-6.6161	14.9348	0.70944	0.0:0.0:0.8569:0.1431	.	.	.	.	X	523;103;523;102;489	.	.	R	-	1	2	ANKS1B	98361590	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.328000	0.90014	1.525000	0.49052	0.563000	0.77884	CGA		0.423	ANKS1B-003	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000408421.3	NM_020140		4	84	0	0	0	0.000248	0	4	84					A	99837459	G	A	99837459	4	1	195	1	0	0	0	0	0	1	0	0	689	1066	37	2	2531	2	ANKS1B	12	99837459	Nonsense_Mutation	SNP	G	TCGA-HC-7075-01A-11D-1961-08	52674265	99837459	34014436	24	9048											
SLC39A2	29986	broad.mit.edu	37	chr14	21469223	21469223	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gaggatcgacagtgcaggacGaagaatggggtggggctcat	11	6	18	6	2	1	1	1	0	0	1	2	6	1	3	0	6	1	2	0	6	2	0	rs144375696	byFrequency	TCGA-HC-7075-01A-11D-1961-08	TCGA-HC-7075-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddc422e4-87e2-4fc0-b56b-ddc2d6a92f58	f10cbfd4-a508-4061-a2b0-767db51dc211	g.chr14:21469223G>A	ENST00000298681.4	+	4	572	c.415G>A	c.(415-417)Gaa>Aaa	p.E139K	SLC39A2_ENST00000554422.1_3'UTR|RP11-84C10.4_ENST00000557335.1_RNA	NM_014579.3	NP_055394.2	Q9NP94	S39A2_HUMAN	solute carrier family 39 (zinc transporter), member 2	139					transmembrane transport (GO:0055085)|zinc ion transmembrane transport (GO:0071577)|zinc ion transport (GO:0006829)	cytoplasmic membrane-bounded vesicle (GO:0016023)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	zinc ion transmembrane transporter activity (GO:0005385)			breast(2)|central_nervous_system(1)|large_intestine(4)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	14	all_cancers(95;0.00267)		OV - Ovarian serous cystadenocarcinoma(11;1.34e-10)|Epithelial(56;1.57e-08)|all cancers(55;7.45e-08)	GBM - Glioblastoma multiforme(265;0.0187)		AGTGCAGGACGAAGAATGGGG	0.547																																						ENST00000298681.4																			0				breast(2)|central_nervous_system(1)|large_intestine(4)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	14						c.(415-417)Gaa>Aaa		solute carrier family 39 (zinc transporter), member 2		G	LYS/GLU	0,4406		0,0,2203	152	142	145		415	3.9	1	14	dbSNP_134	145	7,8593	6.4+/-24.3	0,7,4293	yes	missense	SLC39A2	NM_014579.3	56	0,7,6496	AA,AG,GG		0.0814,0.0,0.0538	benign	139/310	21469223	7,12999	2203	4300	6503	SO:0001583	missense	29986					cytoplasmic membrane-bounded vesicle|integral to plasma membrane	zinc ion transmembrane transporter activity	g.chr14:21469223G>A	AF186081	CCDS9563.1, CCDS58303.1	14q11.1	2013-05-22			ENSG00000165794	ENSG00000165794		"Solute carriers"	17127	protein-coding gene	gene with protein product		612166				10681536, 7751801	Standard	NM_014579		Approved	ZIP2	uc001vyr.3	Q9NP94	OTTHUMG00000029616	ENST00000298681.4:c.415G>A	14.37:g.21469223G>A	ENSP00000298681:p.Glu139Lys					SLC39A2_ENST00000554422.1_3'UTR	p.E139K	NM_014579.3	NP_055394.2	Q9NP94	S39A2_HUMAN	OV - Ovarian serous cystadenocarcinoma(11;1.34e-10)|Epithelial(56;1.57e-08)|all cancers(55;7.45e-08)	GBM - Glioblastoma multiforme(265;0.0187)	4	572	+	all_cancers(95;0.00267)		139					B2RC76|G3V5X2|Q4QQJ1|Q4V9S4|Q96JT6|Q9UD20	Missense_Mutation	SNP	ENST00000298681.4	37	c.415G>A	CCDS9563.1	.	.	.	.	.	.	.	.	.	.	G	8.560	0.877502	0.17395	0.0	8.14E-4	ENSG00000165794	ENST00000298681	T	0.49139	0.79	5.7	3.88	0.44766	.	0.412335	0.27181	N	0.020557	T	0.34978	0.0916	L	0.46157	1.445	0.41081	D	0.985528	P	0.45474	0.859	B	0.38880	0.284	T	0.10428	-1.0630	10	0.13853	T	0.58	-8.1019	9.5061	0.39048	0.0794:0.151:0.7696:0.0	.	139	Q9NP94	S39A2_HUMAN	K	139	ENSP00000298681:E139K	ENSP00000298681:E139K	E	+	1	0	SLC39A2	20539063	1.000000	0.71417	0.998000	0.56505	0.027000	0.11550	5.157000	0.64911	0.759000	0.33084	-0.140000	0.14226	GAA		0.547	SLC39A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073829.2	NM_014579		32	164	0	0	0	0.001786	0	32	164					A	21469223	G	A	21469223	3	1	195	1	0	0	0	0	1	0	0	0	14618	1059	37	2	429	2	SLC39A2	14	21469223	Missense_Mutation	SNP	G	TCGA-HC-7075-01A-11D-1961-08		21469223	85880317	25	9049											
RGS6	9628	broad.mit.edu	37	chr14	72976881	72976881	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcaaagagcccagccaacagCgagtaaaaagatggggcttc	15	4	12	10	1	0	2	0	0	0	2	1	3	0	2	2	2	4	3	2	2	5	2			TCGA-HC-7075-01A-11D-1961-08	TCGA-HC-7075-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddc422e4-87e2-4fc0-b56b-ddc2d6a92f58	f10cbfd4-a508-4061-a2b0-767db51dc211	g.chr14:72976881C>T	ENST00000553530.1	+	14	1192	c.985C>T	c.(985-987)Cga>Tga	p.R329*	RGS6_ENST00000434263.2_Nonsense_Mutation_p.R260*|RGS6_ENST00000555571.1_Nonsense_Mutation_p.R329*|RGS6_ENST00000402788.2_Nonsense_Mutation_p.R329*|RGS6_ENST00000355512.6_Nonsense_Mutation_p.R329*|RGS6_ENST00000553525.1_Nonsense_Mutation_p.R329*|RGS6_ENST00000407322.4_Nonsense_Mutation_p.R329*|RGS6_ENST00000343854.6_Nonsense_Mutation_p.R292*|RGS6_ENST00000556437.1_Nonsense_Mutation_p.R329*|RGS6_ENST00000406236.4_Nonsense_Mutation_p.R329*|RGS6_ENST00000404301.2_Nonsense_Mutation_p.R329*|RGS6_ENST00000554782.1_Nonsense_Mutation_p.R190*	NM_001204417.1|NM_001204418.1|NM_001204420.1|NM_001204421.1|NM_001204422.1|NM_004296.5	NP_001191346.1|NP_001191347.1|NP_001191349.1|NP_001191350.1|NP_001191351.1|NP_004287.3	P49758	RGS6_HUMAN	regulator of G-protein signaling 6	329	G protein gamma.				G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|positive regulation of GTPase activity (GO:0043547)|positive regulation of neuron differentiation (GO:0045666)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|heterotrimeric G-protein complex (GO:0005834)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|signal transducer activity (GO:0004871)			endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33				all cancers(60;0.00309)|BRCA - Breast invasive adenocarcinoma(234;0.0281)|STAD - Stomach adenocarcinoma(64;0.0302)|OV - Ovarian serous cystadenocarcinoma(108;0.0476)		CAGCCAACAGCGAGTAAAAAG	0.458																																					Ovarian(143;1926 2468 21071 48641)	ENST00000553530.1																			0				endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33						c.(985-987)Cga>Tga		regulator of G-protein signaling 6							113	129	123					14																	72976881		2203	4300	6503	SO:0001587	stop_gained	9628				G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|signal transducer activity	g.chr14:72976881C>T	AF073920	CCDS9808.1, CCDS55924.1, CCDS73655.1	14q24.3	2008-07-28	2007-08-14			ENSG00000182732		"Regulators of G-protein signaling"	10002	protein-coding gene	gene with protein product		603894	"regulator of G-protein signalling 6"			10083744, 14734556	Standard	NM_004296		Approved		uc010ttn.2	P49758		ENST00000553530.1:c.985C>T	14.37:g.72976881C>T	ENSP00000452331:p.Arg329*					RGS6_ENST00000434263.2_Nonsense_Mutation_p.R260*|RGS6_ENST00000554782.1_Nonsense_Mutation_p.R190*|RGS6_ENST00000556437.1_Nonsense_Mutation_p.R329*|RGS6_ENST00000402788.2_Nonsense_Mutation_p.R329*|RGS6_ENST00000555571.1_Nonsense_Mutation_p.R329*|RGS6_ENST00000404301.2_Nonsense_Mutation_p.R329*|RGS6_ENST00000343854.6_Nonsense_Mutation_p.R292*|RGS6_ENST00000406236.4_Nonsense_Mutation_p.R329*|RGS6_ENST00000355512.6_Nonsense_Mutation_p.R329*|RGS6_ENST00000553525.1_Nonsense_Mutation_p.R329*|RGS6_ENST00000407322.4_Nonsense_Mutation_p.R329*	p.R329*	NM_001204417.1|NM_001204418.1|NM_001204420.1|NM_001204421.1|NM_001204422.1|NM_004296.5	NP_001191346.1|NP_001191347.1|NP_001191349.1|NP_001191350.1|NP_001191351.1|NP_004287.3	P49758	RGS6_HUMAN		all cancers(60;0.00309)|BRCA - Breast invasive adenocarcinoma(234;0.0281)|STAD - Stomach adenocarcinoma(64;0.0302)|OV - Ovarian serous cystadenocarcinoma(108;0.0476)	14	1192	+			329			G protein gamma.		C9JE95|F8W7W5|O75576|O75577|Q7Z4K3|Q7Z4K4|Q7Z4K5|Q7Z4K6|Q8TE13|Q8TE14|Q8TE15|Q8TE16|Q8TE17|Q8TE18|Q8TE19|Q8TE20|Q8TE21|Q8TE22|Q9UDS8|Q9UDT0|Q9Y245|Q9Y647	Nonsense_Mutation	SNP	ENST00000553530.1	37	c.985C>T	CCDS9808.1	.	.	.	.	.	.	.	.	.	.	C	40	8.420615	0.98803	.	.	ENSG00000182732	ENST00000553525;ENST00000555571;ENST00000553530;ENST00000556437;ENST00000355512;ENST00000404301;ENST00000406236;ENST00000407322;ENST00000402788;ENST00000343854;ENST00000453330;ENST00000434263;ENST00000554782;ENST00000535521	.	.	.	5.72	2.8	0.32819	.	0.099482	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-10.9572	9.6142	0.39681	0.2801:0.6542:0.0:0.0657	.	.	.	.	X	329;329;329;329;329;329;329;329;329;292;301;260;190;190	.	ENSP00000341199:R292X	R	+	1	2	RGS6	72046634	1.000000	0.71417	0.941000	0.38009	0.905000	0.53344	1.519000	0.35888	0.376000	0.24707	0.655000	0.94253	CGA		0.458	RGS6-003	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000413033.2			6	191	0	0	0	0.001168	0	6	191					T	72976881	C	T	72976881	4	4	195	1	0	0	0	0	0	1	0	0	13309	760	27	1	1035	1	RGS6	14	72976881	Nonsense_Mutation	SNP	C	TCGA-HC-7075-01A-11D-1961-08	51507658	72976881	34372659	26	9050											
RTL1	388015	broad.mit.edu	37	chr14	101349274	101349274	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ttgcatcctggcacccacagGttcccaaggcgcggtggagg	7	7	14	13	2	0	0	0	0	0	0	2	1	2	1	3	6	1	3	3	6	1	2			TCGA-HC-7075-01A-11D-1961-08	TCGA-HC-7075-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddc422e4-87e2-4fc0-b56b-ddc2d6a92f58	f10cbfd4-a508-4061-a2b0-767db51dc211	g.chr14:101349274G>A	ENST00000534062.1	-	1	1910	c.1852C>T	c.(1852-1854)Cct>Tct	p.P618S	MIR432_ENST00000606207.1_RNA|MIR433_ENST00000384837.1_RNA|MIR127_ENST00000384876.1_RNA|MIR431_ENST00000385266.1_RNA|MIR136_ENST00000385207.1_RNA	NM_001134888.2	NP_001128360.1	A6NKG5	RTL1_HUMAN	retrotransposon-like 1	618					multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)				breast(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(5)|pancreas(1)|prostate(2)|skin(2)	21						GCACCCACAGGTTCCCAAGGC	0.542																																						ENST00000534062.1																			0				breast(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(5)|pancreas(1)|prostate(2)|skin(2)	21						c.(1852-1854)Cct>Tct		retrotransposon-like 1							42	37	39					14																	101349274		1568	3582	5150	SO:0001583	missense	388015							g.chr14:101349274G>A		CCDS53910.1	14q32.2	2012-04-18			ENSG00000254656	ENSG00000254656			14665	protein-coding gene	gene with protein product		611896				16155747, 15854907, 12796779	Standard	NM_001134888		Approved	PEG11, MART1, Mar1	uc010txj.1	A6NKG5	OTTHUMG00000167573	ENST00000534062.1:c.1852C>T	14.37:g.101349274G>A	ENSP00000435342:p.Pro618Ser						p.P618S	NM_001134888.2	NP_001128360.1	E9PKS8	E9PKS8_HUMAN			1	1910	-			618					E9PKS8	Missense_Mutation	SNP	ENST00000534062.1	37	c.1852C>T	CCDS53910.1	.	.	.	.	.	.	.	.	.	.	G	14.79	2.641952	0.47153	.	.	ENSG00000254656	ENST00000534062	T	0.44881	0.91	3.54	3.54	0.40534	.	0.000000	0.32093	N	0.006595	T	0.45597	0.1350	L	0.50333	1.59	0.09310	N	1	P	0.51791	0.948	P	0.52598	0.703	T	0.32693	-0.9897	10	0.66056	D	0.02	.	9.1845	0.37163	0.0:0.2227:0.7773:0.0	.	618	E9PKS8	.	S	618	ENSP00000435342:P618S	ENSP00000435342:P618S	P	-	1	0	RTL1	100419027	0.997000	0.39634	0.158000	0.22627	0.874000	0.50279	4.216000	0.58540	2.283000	0.76528	0.467000	0.42956	CCT		0.542	RTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395127.1	NM_001134888		6	40	0	0	0	0.001168	0	6	40					A	101349274	G	A	101349274	3	1	195	1	0	0	0	0	1	0	0	0	13724	1261	44	3	2228	3	RTL1	14	101349274	Missense_Mutation	SNP	G	TCGA-HC-7075-01A-11D-1961-08	28372393	101349274	6000266	27	9051											
IQCH	64799	broad.mit.edu	37	chr15	67664646	67664646	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aactatgctataccagaagtCaaaataaaagggaataattt	20	10	6	5	0	1	1	1	0	0	1	1	2	1	2	1	1	3	1	1	1	11	6			TCGA-HC-7075-01A-11D-1961-08	TCGA-HC-7075-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddc422e4-87e2-4fc0-b56b-ddc2d6a92f58	f10cbfd4-a508-4061-a2b0-767db51dc211	g.chr15:67664646C>T	ENST00000335894.4	+	9	1017	c.951C>T	c.(949-951)gtC>gtT	p.V317V	IQCH_ENST00000360277.4_Silent_p.V69V|IQCH_ENST00000358767.3_Silent_p.V144V|IQCH_ENST00000546225.1_Silent_p.V65V	NM_001031715.2	NP_001026885	Q86VS3	IQCH_HUMAN	IQ motif containing H	317										NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(2)|pancreas(2)|skin(5)|upper_aerodigestive_tract(1)	33				Colorectal(3;0.0856)		TACCAGAAGTCAAAATAAAAG	0.418																																						ENST00000335894.4																			0				NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(2)|pancreas(2)|skin(5)|upper_aerodigestive_tract(1)	33						c.(949-951)gtC>gtT		IQ motif containing H							114	120	118					15																	67664646		2201	4299	6500	SO:0001819	synonymous_variant	64799							g.chr15:67664646C>T	AY014282	CCDS10223.1, CCDS32273.1, CCDS10223.2, CCDS61680.1, CCDS61681.1	15q23	2005-10-24			ENSG00000103599	ENSG00000103599			25721	protein-coding gene	gene with protein product		612523				12477932	Standard	NM_022784		Approved	FLJ12476	uc002aqo.2	Q86VS3	OTTHUMG00000133231	ENST00000335894.4:c.951C>T	15.37:g.67664646C>T						IQCH_ENST00000358767.3_Silent_p.V144V|IQCH_ENST00000546225.1_Silent_p.V65V|IQCH_ENST00000360277.4_Silent_p.V69V	p.V317V	NM_001031715.2	NP_001026885.1	Q86VS3	IQCH_HUMAN		Colorectal(3;0.0856)	9	1017	+			317					A8K8W3|C9JPR6|D6RJ88|Q4G0S6|Q8NEH9|Q9BWX2|Q9H9Y1|Q9UF88	Silent	SNP	ENST00000335894.4	37	c.951C>T	CCDS32273.1																																																																																				0.418	IQCH-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256969.1	NM_022784		4	120	0	0	0	0.000602	0	4	120					T	67664646	C	T	67664646	2	4	195	1	0	0	0	0	0	0	0	1	7811	813	29	3		3	IQCH	15	67664646	Silent	SNP	C	TCGA-HC-7075-01A-11D-1961-08		67664646	34866746	28	9052											
SERPINB7	8710	broad.mit.edu	37	chr18	61471819	61471819	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	accacccattcctatttgttAtcaggaaggatgacatcatc	12	12	6	11	0	2	1	2	1	0	0	4	3	3	3	3	2	0	1	3	2	3	4			TCGA-HC-7075-01A-11D-1961-08	TCGA-HC-7075-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddc422e4-87e2-4fc0-b56b-ddc2d6a92f58	f10cbfd4-a508-4061-a2b0-767db51dc211	g.chr18:61471819A>T	ENST00000398019.2	+	8	1418	c.1093A>T	c.(1093-1095)Atc>Ttc	p.I365F	SERPINB7_ENST00000546027.1_Missense_Mutation_p.I365F|SERPINB7_ENST00000540675.1_Missense_Mutation_p.I348F|SERPINB7_ENST00000336429.2_Missense_Mutation_p.I365F	NM_003784.3	NP_003775.1	O75635	SPB7_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 7	365					negative regulation of endopeptidase activity (GO:0010951)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of glomerular mesangial cell proliferation (GO:0072126)|positive regulation of platelet-derived growth factor production (GO:0090362)|positive regulation of transforming growth factor beta1 production (GO:0032914)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	serine-type endopeptidase inhibitor activity (GO:0004867)			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(14)|prostate(1)|skin(3)	27		Esophageal squamous(42;0.129)				CCTATTTGTTATCAGGAAGGA	0.453																																						ENST00000398019.2																			0				central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(14)|prostate(1)|skin(3)	27						c.(1093-1095)Atc>Ttc		serpin peptidase inhibitor, clade B (ovalbumin), member 7							79	73	75					18																	61471819		2203	4300	6503	SO:0001583	missense	8710				regulation of proteolysis	cytoplasm	serine-type endopeptidase inhibitor activity	g.chr18:61471819A>T	AF027866	CCDS11988.1, CCDS58633.1	18q21.33	2014-02-18	2005-08-18		ENSG00000166396	ENSG00000166396		"Serine (or cysteine) peptidase inhibitors"	13902	protein-coding gene	gene with protein product		603357	"serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 7"			24172014	Standard	NM_003784		Approved	MEGSIN	uc002ljl.4	O75635	OTTHUMG00000060591	ENST00000398019.2:c.1093A>T	18.37:g.61471819A>T	ENSP00000381101:p.Ile365Phe					SERPINB7_ENST00000540675.1_Missense_Mutation_p.I348F|SERPINB7_ENST00000336429.2_Missense_Mutation_p.I365F|SERPINB7_ENST00000546027.1_Missense_Mutation_p.I365F	p.I365F	NM_003784.3	NP_003775.1	O75635	SPB7_HUMAN			8	1418	+		Esophageal squamous(42;0.129)	365					B4DUW8|F5GZC0|Q1ED45|Q3KPG4	Missense_Mutation	SNP	ENST00000398019.2	37	c.1093A>T	CCDS11988.1	.	.	.	.	.	.	.	.	.	.	A	17.35	3.366358	0.61513	.	.	ENSG00000166396	ENST00000336429;ENST00000398019;ENST00000540675;ENST00000546027	T;T;T;T	0.22134	1.97;1.97;1.97;1.97	6.01	4.86	0.63082	Serpin domain (3);Protease inhibitor I4, serpin, conserved site (1);	0.000000	0.64402	D	0.000002	T	0.59459	0.2195	H	0.97896	4.1	0.46185	D	0.998913	D;D	0.76494	0.999;0.999	D;D	0.70487	0.948;0.969	T	0.70714	-0.4796	10	0.87932	D	0	.	10.0111	0.41986	0.9243:0.0:0.0757:0.0	.	348;365	F5GZC0;O75635	.;SPB7_HUMAN	F	365;365;348;365	ENSP00000337212:I365F;ENSP00000381101:I365F;ENSP00000444572:I348F;ENSP00000444861:I365F	ENSP00000337212:I365F	I	+	1	0	SERPINB7	59622799	1.000000	0.71417	0.862000	0.33874	0.298000	0.27526	5.730000	0.68546	1.102000	0.41551	0.533000	0.62120	ATC		0.453	SERPINB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000134007.1	NM_003784		4	90	0	0	0	0.000248	0	4	90					T	61471819	A	T	61471819	3	4	195	1	0	0	0	0	1	0	0	0	14106	449	16	5	1119	5	SERPINB7	18	61471819	Missense_Mutation	SNP	A	TCGA-HC-7075-01A-11D-1961-08		61471819	16605429	29	9053											
GPATCH1	55094	broad.mit.edu	37	chr19	33602720	33602720	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgggcggccctgctgtacgCatcttcccattcgaccttgt	4	11	10	16	4	1	0	0	0	1	0	3	1	2	0	4	2	2	3	4	2	1	4			TCGA-HC-7075-01A-11D-1961-08	TCGA-HC-7075-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddc422e4-87e2-4fc0-b56b-ddc2d6a92f58	f10cbfd4-a508-4061-a2b0-767db51dc211	g.chr19:33602720C>G	ENST00000170564.2	+	12	1990	c.1676C>G	c.(1675-1677)gCa>gGa	p.A559G		NM_018025.2	NP_060495.2	Q9BRR8	GPTC1_HUMAN	G patch domain containing 1	559					mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)	nucleic acid binding (GO:0003676)			breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|prostate(4)|skin(4)	40	Esophageal squamous(110;0.137)					CTGCTGTACGCATCTTCCCAT	0.607																																					Pancreas(67;88 1713 4567 18227)	ENST00000170564.2																			0				breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|prostate(4)|skin(4)	40						c.(1675-1677)gCa>gGa		G patch domain containing 1							132	112	119					19																	33602720		2203	4300	6503	SO:0001583	missense	55094					catalytic step 2 spliceosome	nucleic acid binding	g.chr19:33602720C>G	AF434677	CCDS12428.1	19q13.12	2013-01-28		2006-12-13		ENSG00000076650		"G patch domain containing"	24658	protein-coding gene	gene with protein product	"evolutionarily conserved G patch domain containing"			GPATC1		12477932	Standard	NM_018025		Approved	ECGP, FLJ10206, FLJ38686	uc002nug.1	Q9BRR8		ENST00000170564.2:c.1676C>G	19.37:g.33602720C>G	ENSP00000170564:p.Ala559Gly						p.A559G	NM_018025.2	NP_060495.2	Q9BRR8	GPTC1_HUMAN			12	1990	+	Esophageal squamous(110;0.137)		559					Q8IZV6|Q8N3B7|Q9NW94	Missense_Mutation	SNP	ENST00000170564.2	37	c.1676C>G	CCDS12428.1	.	.	.	.	.	.	.	.	.	.	C	7.350	0.622767	0.14193	.	.	ENSG00000076650	ENST00000170564	T	0.32988	1.43	5.73	-7.96	0.01144	.	0.450296	0.24917	N	0.034576	T	0.09291	0.0229	N	0.08118	0	0.09310	N	1	B	0.31769	0.339	B	0.27076	0.076	T	0.08351	-1.0726	10	0.52906	T	0.07	-0.5288	4.8307	0.13439	0.1684:0.4927:0.1616:0.1773	.	559	Q9BRR8	GPTC1_HUMAN	G	559	ENSP00000170564:A559G	ENSP00000170564:A559G	A	+	2	0	GPATCH1	38294560	0.005000	0.15991	0.005000	0.12908	0.160000	0.22226	0.386000	0.20702	-1.536000	0.01738	-1.720000	0.00707	GCA		0.607	GPATCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450834.1	NM_018025		3	119	0	0	0	0.004672	0	3	119					G	33602720	C	G	33602720	3	3	195	1	0	0	0	0	1	0	0	0	6590	710	25	5	1722	5	GPATCH1	19	33602720	Missense_Mutation	SNP	C	TCGA-HC-7075-01A-11D-1961-08		33602720	25526263	30	9054											
ZNF599	148103	broad.mit.edu	37	chr19	35260439	35260439	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccagtgaaggtcacaaccaCgtcttcaaatgatactaatg	14	10	7	10	1	3	2	2	2	1	0	4	2	4	2	2	1	2	0	2	1	5	3	rs565979259		TCGA-HC-7075-01A-11D-1961-08	TCGA-HC-7075-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddc422e4-87e2-4fc0-b56b-ddc2d6a92f58	f10cbfd4-a508-4061-a2b0-767db51dc211	g.chr19:35260439C>G	ENST00000329285.8	-	2	413	c.40G>C	c.(40-42)Gtg>Ctg	p.V14L	ZNF599_ENST00000587354.2_Missense_Mutation_p.V14L|ZNF599_ENST00000588760.1_Missense_Mutation_p.V14L	NM_001007248.2	NP_001007249.1	Q96NL3	ZN599_HUMAN	zinc finger protein 599	14	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|large_intestine(10)|lung(8)|ovary(1)|pancreas(1)|skin(1)	24	all_lung(56;1.13e-07)|Lung NSC(56;1.81e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.138)			GTCACAACCACGTCTTCAAAT	0.532																																						ENST00000587354.1																			0				endometrium(3)|large_intestine(10)|lung(8)|ovary(1)|pancreas(1)|skin(1)	24						c.(40-42)Gtg>Ctg		zinc finger protein 599							93	89	90					19																	35260439		2203	4300	6503	SO:0001583	missense	148103				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:35260439C>G	AK055225	CCDS32991.1	19q13.13	2013-01-08				ENSG00000153896		"Zinc fingers, C2H2-type", "-"	26408	protein-coding gene	gene with protein product							Standard	NM_001007248		Approved	FLJ30663	uc010edn.1	Q96NL3		ENST00000329285.8:c.40G>C	19.37:g.35260439C>G	ENSP00000333802:p.Val14Leu					ZNF599_ENST00000588760.1_Missense_Mutation_p.V14L|ZNF599_ENST00000329285.7_Missense_Mutation_p.V14L	p.V14L			Q96NL3	ZN599_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.138)		2	427	-	all_lung(56;1.13e-07)|Lung NSC(56;1.81e-07)|Esophageal squamous(110;0.162)		14			KRAB.		Q569K0|Q5PRG1	Missense_Mutation	SNP	ENST00000329285.8	37	c.40G>C	CCDS32991.1	.	.	.	.	.	.	.	.	.	.	c	15.29	2.788416	0.49997	.	.	ENSG00000153896	ENST00000392231;ENST00000329285;ENST00000379196	T	0.09255	3.0	2.92	1.81	0.25067	Krueppel-associated box (4);	.	.	.	.	T	0.33294	0.0858	M	0.89287	3.02	0.09310	N	0.999997	D	0.67145	0.996	D	0.65773	0.938	T	0.05699	-1.0869	9	0.56958	D	0.05	.	8.9353	0.35695	0.2238:0.7762:0.0:0.0	.	14	Q96NL3	ZN599_HUMAN	L	13;14;8	ENSP00000333802:V14L	ENSP00000333802:V14L	V	-	1	0	ZNF599	39952279	0.452000	0.25713	0.188000	0.23233	0.929000	0.56500	1.433000	0.34947	0.743000	0.32719	0.457000	0.33378	GTG		0.532	ZNF599-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460648.2	XM_086046		3	115	0	0	0	0.000248	0	3	115					G	35260439	C	G	35260439	3	3	195	1	0	0	0	0	1	0	0	0	18026	536	19	5	1738	5	ZNF599	19	35260439	Missense_Mutation	SNP	C	TCGA-HC-7075-01A-11D-1961-08	1657719	35260439	23868544	31	9055											
STRN4	29888	broad.mit.edu	37	chr19	47236332	47236332	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgatctgtttcaccagcagcGactccccaccactgagccct	8	8	7	18	2	2	1	1	1	1	0	3	3	3	1	5	0	3	2	5	0	0	1			TCGA-HC-7075-01A-11D-1961-08	TCGA-HC-7075-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddc422e4-87e2-4fc0-b56b-ddc2d6a92f58	f10cbfd4-a508-4061-a2b0-767db51dc211	g.chr19:47236332G>T	ENST00000263280.6	-	5	750	c.701C>A	c.(700-702)tCg>tAg	p.S234*	CTB-174O21.2_ENST00000600716.1_RNA|STRN4_ENST00000539396.1_Nonsense_Mutation_p.S115*|STRN4_ENST00000391910.3_Nonsense_Mutation_p.S234*	NM_001039877.1|NM_013403.2	NP_001034966.1|NP_037535.2	Q9NRL3	STRN4_HUMAN	striatin, calmodulin binding protein 4	234						cell projection (GO:0042995)|cytoplasm (GO:0005737)|membrane (GO:0016020)	armadillo repeat domain binding (GO:0070016)|calmodulin binding (GO:0005516)|protein complex binding (GO:0032403)|protein phosphatase 2A binding (GO:0051721)			NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000563)|all cancers(93;0.00138)|Epithelial(262;0.0217)|GBM - Glioblastoma multiforme(486;0.035)		CACCAGCAGCGACTCCCCACC	0.647																																						ENST00000391910.3																			0				NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						c.(700-702)tCg>tAg		striatin, calmodulin binding protein 4							76	56	63					19																	47236332		2203	4300	6503	SO:0001587	stop_gained	29888					cytoplasm|membrane	armadillo repeat domain binding|calmodulin binding|protein complex binding|protein phosphatase 2A binding	g.chr19:47236332G>T	AF212940	CCDS12690.1, CCDS42581.1	19q13.32	2013-01-10			ENSG00000090372	ENSG00000090372		"WD repeat domain containing"	15721	protein-coding gene	gene with protein product		614767				10748158	Standard	XM_006723171		Approved	zinedin, ZIN	uc002pfm.3	Q9NRL3		ENST00000263280.6:c.701C>A	19.37:g.47236332G>T	ENSP00000263280:p.Ser234*					STRN4_ENST00000263280.6_Nonsense_Mutation_p.S234*|STRN4_ENST00000539396.1_Nonsense_Mutation_p.S115*	p.S234*			Q9NRL3	STRN4_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000563)|all cancers(93;0.00138)|Epithelial(262;0.0217)|GBM - Glioblastoma multiforme(486;0.035)	5	1151	-		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)	234					A0A024R0V2|B4DQH7|F8VYA6|Q8NE53	Nonsense_Mutation	SNP	ENST00000263280.6	37	c.701C>A	CCDS12690.1	.	.	.	.	.	.	.	.	.	.	G	16.27	3.074800	0.55646	.	.	ENSG00000090372	ENST00000391910;ENST00000263280;ENST00000539396;ENST00000435164	.	.	.	4.98	2.85	0.33270	.	0.465279	0.21441	N	0.074491	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-10.2558	10.2676	0.43464	0.1638:0.0:0.8362:0.0	.	.	.	.	X	234;234;115;115	.	ENSP00000263280:S234X	S	-	2	0	STRN4	51928172	1.000000	0.71417	0.029000	0.17559	0.023000	0.10783	7.082000	0.76851	0.688000	0.31529	0.561000	0.74099	TCG		0.647	STRN4-001	KNOWN	NMD_exception|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000466607.2			6	36	1	0	0.00116845	0.001168	0.00220461	6	36					T	47236332	G	T	47236332	4	4	195	1	0	0	0	0	0	1	0	0	15330	1059	37	5	1633	5	STRN4	19	47236332	Nonsense_Mutation	SNP	G	TCGA-HC-7075-01A-11D-1961-08	11975893	47236332	11892651	32	9056											
RUVBL2	10856	broad.mit.edu	37	chr19	49507640	49507640	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tcgggcagtccttattgctgGccagccgggcacggggaaga	7	7	16	11	3	0	1	0	0	0	1	2	2	1	2	3	5	2	3	3	5	2	2			TCGA-HC-7075-01A-11D-1961-08	TCGA-HC-7075-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddc422e4-87e2-4fc0-b56b-ddc2d6a92f58	f10cbfd4-a508-4061-a2b0-767db51dc211	g.chr19:49507640G>A	ENST00000595090.1	+	4	694	c.230G>A	c.(229-231)gGc>gAc	p.G77D	RUVBL2_ENST00000601968.1_Missense_Mutation_p.G32D|RUVBL2_ENST00000413176.2_Missense_Mutation_p.G32D	NM_006666.1	NP_006657.1	Q9Y230	RUVB2_HUMAN	RuvB-like AAA ATPase 2	77					ATP catabolic process (GO:0006200)|cellular response to estradiol stimulus (GO:0071392)|cellular response to UV (GO:0034644)|chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|establishment of protein localization to chromatin (GO:0071169)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|negative regulation of estrogen receptor binding (GO:0071899)|positive regulation of histone acetylation (GO:0035066)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein folding (GO:0006457)|regulation of growth (GO:0040008)|transcription, DNA-templated (GO:0006351)|transcriptional activation by promoter-enhancer looping (GO:0071733)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Ino80 complex (GO:0031011)|intracellular (GO:0005622)|membrane (GO:0016020)|MLL1 complex (GO:0071339)|NuA4 histone acetyltransferase complex (GO:0035267)|nuclear euchromatin (GO:0005719)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|ATP-dependent 5'-3' DNA helicase activity (GO:0043141)|ATP-dependent DNA helicase activity (GO:0004003)|chromatin DNA binding (GO:0031490)|damaged DNA binding (GO:0003684)|DNA helicase activity (GO:0003678)|identical protein binding (GO:0042802)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|unfolded protein binding (GO:0051082)			large_intestine(1)|upper_aerodigestive_tract(1)	2		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		all cancers(93;0.000449)|OV - Ovarian serous cystadenocarcinoma(262;0.000555)|GBM - Glioblastoma multiforme(486;0.00585)|Epithelial(262;0.047)		CTTATTGCTGGCCAGCCGGGC	0.617																																						ENST00000413176.2																			0				large_intestine(1)|upper_aerodigestive_tract(1)	2						c.(94-96)gGc>gAc		RuvB-like AAA ATPase 2							49	56	54					19																	49507640		1954	4140	6094	SO:0001583	missense	10856				cellular response to UV|DNA recombination|DNA repair|histone H2A acetylation|histone H4 acetylation|protein folding|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|Ino80 complex|membrane|MLL1 complex|NuA4 histone acetyltransferase complex|nuclear matrix	ATP binding|ATP-dependent DNA helicase activity|damaged DNA binding|identical protein binding|unfolded protein binding	g.chr19:49507640G>A	AF155138	CCDS42588.1	19q13.3	2013-09-12	2013-09-12					"INO80 complex subunits", "ATPases / AAA-type"	10475	protein-coding gene	gene with protein product	"reptin", "INO80 complex subunit J"	604788	"RuvB (E coli homolog)-like 2", "RuvB-like 2 (E. coli)"			10428817, 10998447	Standard	XM_005258426		Approved	RVB2, TIP48, TIP49b, Reptin52, ECP51, TIH2, INO80J, Rvb2	uc002plr.1	Q9Y230		ENST00000595090.1:c.230G>A	19.37:g.49507640G>A	ENSP00000473172:p.Gly77Asp					RUVBL2_ENST00000595090.1_Missense_Mutation_p.G77D|RUVBL2_ENST00000601968.1_Missense_Mutation_p.G32D	p.G32D			Q9Y230	RUVB2_HUMAN		all cancers(93;0.000449)|OV - Ovarian serous cystadenocarcinoma(262;0.000555)|GBM - Glioblastoma multiforme(486;0.00585)|Epithelial(262;0.047)	4	1243	+		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)	77					B3KQ59|E7ETE5|Q6FIB9|Q6PK27|Q9Y361	Missense_Mutation	SNP	ENST00000595090.1	37	c.95G>A	CCDS42588.1	.	.	.	.	.	.	.	.	.	.	G	28.5	4.929630	0.92389	.	.	ENSG00000183207	ENST00000221413;ENST00000413176	T;T	0.75821	-0.97;-0.79	4.92	4.92	0.64577	TIP49, C-terminal (1);ATPase, AAA+ type, core (1);	0.000000	0.85682	D	0.000000	D	0.92064	0.7485	H	0.99312	4.51	0.80722	D	1	D;D;D	0.89917	1.0;0.997;0.997	D;D;D	0.81914	0.995;0.981;0.99	D	0.95231	0.8342	10	0.87932	D	0	-27.0625	15.9957	0.80237	0.0:0.0:1.0:0.0	.	77;77;43	B4DW30;Q9Y230;B3KNL2	.;RUVB2_HUMAN;.	D	77;32	ENSP00000221413:G77D;ENSP00000413890:G32D	ENSP00000221413:G77D	G	+	2	0	RUVBL2	54199452	1.000000	0.71417	0.998000	0.56505	0.860000	0.49131	8.639000	0.91023	2.469000	0.83416	0.561000	0.74099	GGC		0.617	RUVBL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466235.1			4	138	0	0	0	0.000602	0	4	138					A	49507640	G	A	49507640	3	1	195	1	0	0	0	0	1	0	0	0	13753	1203	42	3	244	3	RUVBL2	19	49507640	Missense_Mutation	SNP	G	TCGA-HC-7075-01A-11D-1961-08	2271308	49507640	9621343	33	9057											
PEG3	5178	broad.mit.edu	37	chr19	57328000	57328000	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gggcctaaaggtttccccgcGctcacgttcacgttcacgtt	6	11	10	14	5	3	0	3	0	0	0	4	0	4	0	3	2	0	5	3	2	2	5	rs376042442		TCGA-HC-7075-01A-11D-1961-08	TCGA-HC-7075-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddc422e4-87e2-4fc0-b56b-ddc2d6a92f58	f10cbfd4-a508-4061-a2b0-767db51dc211	g.chr19:57328000G>A	ENST00000326441.9	-	10	2173	c.1810C>T	c.(1810-1812)Cgc>Tgc	p.R604C	ZIM2_ENST00000601070.1_Intron|PEG3_ENST00000598410.1_Missense_Mutation_p.R480C|ZIM2_ENST00000599935.1_Intron|ZIM2_ENST00000221722.5_Intron|ZIM2_ENST00000593711.1_Intron|PEG3_ENST00000423103.2_Missense_Mutation_p.R604C|PEG3_ENST00000593695.1_Missense_Mutation_p.R478C|ZIM2_ENST00000391708.3_Intron	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	604					apoptotic process (GO:0006915)|genetic imprinting (GO:0071514)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)	p.R604C(2)		NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		GTTTCCCCGCGCtcacgttca	0.458																																						ENST00000326441.9																			2	Substitution - Missense(2)	p.R604C(2)	breast(2)	NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170						c.(1810-1812)Cgc>Tgc		paternally expressed 3		G	CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG,,,CYS/ARG,	0,4406		0,0,2203	94	77	83		1810,1432,1810,1438,,,1810,	1.7	0	19		83	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense,intron,intron,missense,intron	PEG3,ZIM2	NM_001146184.1,NM_001146185.1,NM_001146186.1,NM_001146187.1,NM_001146326.1,NM_001146327.1,NM_006210.2,NM_015363.4	180,180,180,180,,,180,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging,,,probably-damaging,	604/1589,478/1463,604/1589,480/1465,,,604/1589,	57328000	1,13005	2203	4300	6503	SO:0001583	missense	5178				apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:57328000G>A	AB006625	CCDS12948.1, CCDS58684.1, CCDS58685.1	19q13.4	2013-01-09				ENSG00000198300		"Zinc fingers, C2H2-type", "-", "-", "-"	8826	protein-coding gene	gene with protein product		601483				9149948	Standard	NM_006210		Approved	ZKSCAN22, KIAA0287, ZNF904, ZSCAN24	uc010etr.2	Q9GZU2		ENST00000326441.9:c.1810C>T	19.37:g.57328000G>A	ENSP00000326581:p.Arg604Cys					ZIM2_ENST00000599935.1_Intron|ZIM2_ENST00000593711.1_Intron|ZIM2_ENST00000601070.1_Intron|ZIM2_ENST00000221722.5_Intron|ZIM2_ENST00000391708.3_Intron|PEG3_ENST00000598410.1_Missense_Mutation_p.R480C|PEG3_ENST00000593695.1_Missense_Mutation_p.R478C|PEG3_ENST00000423103.2_Missense_Mutation_p.R604C	p.R604C	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN		GBM - Glioblastoma multiforme(193;0.0269)	10	2173	-		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)	604					A7E2B8|B4DIM4|C9JP50|P78418|Q5H9P9|Q7Z7H7|Q8TF75|Q9GZY2	Missense_Mutation	SNP	ENST00000326441.9	37	c.1810C>T	CCDS12948.1	.	.	.	.	.	.	.	.	.	.	G	0.370	-0.934314	0.02340	0.0	1.16E-4	ENSG00000198300	ENST00000326441;ENST00000423103	T;T	0.01414	4.92;4.92	4.0	1.69	0.24217	.	.	.	.	.	T	0.00724	0.0024	N	0.08118	0	.	.	.	B;B;B	0.06786	0.001;0.0;0.001	B;B;B	0.04013	0.001;0.001;0.001	T	0.41034	-0.9531	8	0.02654	T	1	-7.3429	5.6883	0.17815	0.3823:0.0:0.6177:0.0	.	480;604;539	A7E2B8;Q9GZU2;Q96Q96	.;PEG3_HUMAN;.	C	604	ENSP00000326581:R604C;ENSP00000403051:R604C	ENSP00000326581:R604C	R	-	1	0	ZIM2	62019812	0.007000	0.16637	0.001000	0.08648	0.009000	0.06853	1.984000	0.40658	0.534000	0.28695	-0.145000	0.13849	CGC		0.458	PEG3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416099.2			5	39	0	0	0	0.001168	0	5	39					A	57328000	G	A	57328000	3	1	195	1	0	0	0	0	1	0	0	0	11720	1087	38	1	2960	1	PEG3	19	57328000	Missense_Mutation	SNP	G	TCGA-HC-7075-01A-11D-1961-08	7820360	57328000	1800983	34	9058											
CEBPB	1051	broad.mit.edu	37	chr20	48807874	48807885	+	In_Frame_Del	DEL	CCCGCGCCCGCC	CCCGCGCCCGCC	-																															acaccttcgaggcggctccgCccgcgcccgcccccgcgccc																										TCGA-HC-7075-01A-11D-1961-08	TCGA-HC-7075-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddc422e4-87e2-4fc0-b56b-ddc2d6a92f58	f10cbfd4-a508-4061-a2b0-767db51dc211	g.chr20:48807874_48807885delCCCGCGCCCGCC	ENST00000303004.3	+	1	499_510	c.304_315delCCCGCGCCCGCC	c.(304-315)cccgcgcccgccdel	p.PAPA106del		NM_005194.3	NP_005185.2	P17676	CEBPB_HUMAN	CCAAT/enhancer binding protein (C/EBP), beta	106					acute-phase response (GO:0006953)|brown fat cell differentiation (GO:0050873)|cellular response to amino acid stimulus (GO:0071230)|embryonic placenta development (GO:0001892)|immune response (GO:0006955)|inflammatory response (GO:0006954)|mammary gland epithelial cell differentiation (GO:0060644)|mammary gland epithelial cell proliferation (GO:0033598)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron differentiation (GO:0030182)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of osteoblast differentiation (GO:0045669)|regulation of interleukin-6 biosynthetic process (GO:0045408)|regulation of transcription involved in cell fate commitment (GO:0060850)|regulation of transcription, DNA-templated (GO:0006355)|response to endoplasmic reticulum stress (GO:0034976)|response to lipopolysaccharide (GO:0032496)|transcription from RNA polymerase II promoter (GO:0006366)	condensed chromosome, centromeric region (GO:0000779)|cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|lung(1)	2			BRCA - Breast invasive adenocarcinoma(9;5.72e-08)|STAD - Stomach adenocarcinoma(23;0.19)			GGCGGCTccgcccgcgcccgcccccgcgcccg	0.745																																						ENST00000303004.3																			0				NS(1)|lung(1)	2						c.(304-315)del		CCAAT/enhancer binding protein (C/EBP), beta																																				SO:0001651	inframe_deletion	1051				acute-phase response|immune response		sequence-specific enhancer binding RNA polymerase II transcription factor activity	g.chr20:48807874_48807885delCCCGCGCCCGCC	AY193834	CCDS13429.1	20q13.1	2013-01-10			ENSG00000172216	ENSG00000172216		"basic leucine zipper proteins"	1834	protein-coding gene	gene with protein product	"liver-enriched transcriptional activator protein", "nuclear factor of interleukin 6", "interleukin 6-dependent DNA-binding protein"	189965		TCF5		1535333, 1840554	Standard	NM_005194		Approved	LAP, CRP2, NFIL6, IL6DBP, C/EBP-beta	uc002xvi.2	P17676	OTTHUMG00000032715	ENST00000303004.3:c.304_315delCCCGCGCCCGCC	20.37:g.48807874_48807885delCCCGCGCCCGCC	ENSP00000305422:p.Pro106_Ala109del						p.PAPA106del	NM_005194.3	NP_005185.2	P17676	CEBPB_HUMAN	BRCA - Breast invasive adenocarcinoma(9;5.72e-08)|STAD - Stomach adenocarcinoma(23;0.19)		1	499_510	+			106					A8K671|Q96IH2|Q9H4Z5	In_Frame_Del	DEL	ENST00000303004.3	37	c.304_315delCCCGCGCCCGCC	CCDS13429.1																																																																																				0.745	CEBPB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079672.1	NM_005194		3	3						3	3	---	---	---	---	-	48807885	CCCGCGCCCGCC	-	48807874	7	5	195	1	0	1	0	1	0	0	0	0	3200	739	26	0	306	0	CEBPB	20	48807874	In_Frame_Del	DEL	CCCGCGCCCGCC	TCGA-HC-7075-01A-11D-1961-08		48807874	14217646	35	9059											
SYNGR1	9145	broad.mit.edu	37	chr22	39770548	39770548	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aaagccgtcctgtccgacatCggtgtctcgggtgagcccca	7	8	12	14	4	1	1	0	1	1	0	5	2	3	1	5	2	2	0	5	2	1	0			TCGA-HC-7075-01A-11D-1961-08	TCGA-HC-7075-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddc422e4-87e2-4fc0-b56b-ddc2d6a92f58	f10cbfd4-a508-4061-a2b0-767db51dc211	g.chr22:39770548C>T	ENST00000328933.5	+	2	342	c.327C>T	c.(325-327)atC>atT	p.I109I	SYNGR1_ENST00000216155.7_Silent_p.I109I|SYNGR1_ENST00000318801.4_Silent_p.I109I|SYNGR1_ENST00000406293.3_Silent_p.I109I|SYNGR1_ENST00000381535.4_Silent_p.I110I	NM_004711.4	NP_004702.2	O43759	SNG1_HUMAN	synaptogyrin 1	109	MARVEL. {ECO:0000255|PROSITE- ProRule:PRU00581}.				protein targeting (GO:0006605)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of short-term neuronal synaptic plasticity (GO:0048172)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|synaptic vesicle membrane (GO:0030672)				endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)	7	Melanoma(58;0.04)					TGTCCGACATCGGTGTCTCGG	0.632																																						ENST00000328933.5																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)	7						c.(325-327)atC>atT		synaptogyrin 1							84	59	67					22																	39770548		2203	4300	6503	SO:0001819	synonymous_variant	9145							g.chr22:39770548C>T	AJ002303	CCDS13989.1, CCDS13990.1, CCDS13991.1	22q13	2008-06-10			ENSG00000100321	ENSG00000100321			11498	protein-coding gene	gene with protein product		603925				9760194, 10595519	Standard	NM_004711		Approved			O43759	OTTHUMG00000030978	ENST00000328933.5:c.327C>T	22.37:g.39770548C>T						SYNGR1_ENST00000318801.4_Silent_p.I109I|SYNGR1_ENST00000216155.7_Silent_p.I109I|SYNGR1_ENST00000406293.3_Silent_p.I109I|SYNGR1_ENST00000381535.4_Silent_p.I110I	p.I109I	NM_004711.4	NP_004702.2					2	342	+	Melanoma(58;0.04)							A6NP69|A8K0E2|O43757|O43758|Q53Y02|Q96J56|Q9UGZ4	Silent	SNP	ENST00000328933.5	37	c.327C>T	CCDS13989.1																																																																																				0.632	SYNGR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075866.2	NM_004711		23	39	0	0	0	0.003954	0	23	39					T	39770548	C	T	39770548	2	4	195	1	0	0	0	0	0	0	0	1	15445	874	31	2		2	SYNGR1	22	39770548	Silent	SNP	C	TCGA-HC-7075-01A-11D-1961-08		39770548	11534018	36	9060											
ALG12	79087	broad.mit.edu	37	chr22	50297538	50297538	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagctttgtctgcaggtggAcgttgaaggggggcagttgg	6	10	18	7	1	1	1	0	1	1	0	1	2	1	2	1	6	2	5	1	6	1	3			TCGA-HC-7075-01A-11D-1961-08	TCGA-HC-7075-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddc422e4-87e2-4fc0-b56b-ddc2d6a92f58	f10cbfd4-a508-4061-a2b0-767db51dc211	g.chr22:50297538A>G	ENST00000330817.6	-	10	1688	c.1415T>C	c.(1414-1416)gTc>gCc	p.V472A	CITF22-1A6.3_ENST00000610245.1_lincRNA	NM_024105.3	NP_077010.1	Q9BV10	ALG12_HUMAN	ALG12, alpha-1,6-mannosyltransferase	472					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|mannosylation (GO:0097502)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	alpha-1,6-mannosyltransferase activity (GO:0000009)|dol-P-Man:Man(7)GlcNAc(2)-PP-Dol alpha-1,6-mannosyltransferase activity (GO:0052917)			endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|prostate(3)	12		all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164)		BRCA - Breast invasive adenocarcinoma(115;0.199)|LUAD - Lung adenocarcinoma(64;0.247)		CTGCAGGTGGACGTTGAAGGG	0.657																																						ENST00000330817.5																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|prostate(3)	12						c.(1414-1416)gTc>gCc		ALG12, alpha-1,6-mannosyltransferase							66	73	71					22																	50297538		2203	4300	6503	SO:0001583	missense	79087				dolichol-linked oligosaccharide biosynthetic process|GPI anchor biosynthetic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	integral to membrane|intrinsic to endoplasmic reticulum membrane		g.chr22:50297538A>G	AJ303120	CCDS14081.1	22q13.33	2013-02-26	2013-02-26		ENSG00000182858	ENSG00000182858	2.4.1.260	"Dolichyl D-mannosyl phosphate dependent mannosyltransferases"	19358	protein-coding gene	gene with protein product	"dolichyl-P-Man:Man(7)GlcNAc(2)-PP-dolichol alpha-1,6-mannosyltransferase", "dol-P-Man dependent alpha-1,6-mannosyltransferase"	607144	"asparagine-linked glycosylation 12 homolog (yeast, alpha-1,6-mannosyltransferase)", "asparagine-linked glycosylation 12, alpha-1,6-mannosyltransferase homolog (S. cerevisiae)"			11983712	Standard	NM_024105		Approved	ECM39	uc003biy.3	Q9BV10	OTTHUMG00000150289	ENST00000330817.6:c.1415T>C	22.37:g.50297538A>G	ENSP00000333813:p.Val472Ala						p.V472A	NM_024105.3	NP_077010.1	Q9BV10	ALG12_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.199)|LUAD - Lung adenocarcinoma(64;0.247)	10	1688	-		all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164)	472					A6PWM1|Q4KMH4|Q8NG10|Q96AA4	Missense_Mutation	SNP	ENST00000330817.6	37	c.1415T>C	CCDS14081.1	.	.	.	.	.	.	.	.	.	.	A	13.34	2.207047	0.39003	.	.	ENSG00000182858	ENST00000330817	D	0.82167	-1.58	5.41	5.41	0.78517	.	0.464926	0.22305	N	0.061804	T	0.81541	0.4844	M	0.63843	1.955	0.09310	N	1	P	0.42078	0.77	B	0.38921	0.285	T	0.78013	-0.2370	10	0.87932	D	0	-10.9644	15.1255	0.72481	1.0:0.0:0.0:0.0	.	472	Q9BV10	ALG12_HUMAN	A	472	ENSP00000333813:V472A	ENSP00000333813:V472A	V	-	2	0	ALG12	48683542	0.962000	0.33011	0.011000	0.14972	0.090000	0.18270	6.080000	0.71299	2.057000	0.61298	0.533000	0.62120	GTC		0.657	ALG12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317405.2	NM_024105		3	114	0	0	0	0.004672	0	3	114					G	50297538	A	G	50297538	3	3	195	1	0	0	0	0	1	0	0	0	514	275	10	4	55	4	ALG12	22	50297538	Missense_Mutation	SNP	A	TCGA-HC-7075-01A-11D-1961-08	10526990	50297538	1007028	37	9061											
CTPS2	56474	broad.mit.edu	37	chrX	16720991	16720991	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgatccctttaccaatgcctGagatgaccccacccgtgacc	9	9	7	16	1	0	4	0	4	0	1	1	5	1	4	7	0	2	0	7	0	2	2			TCGA-HC-7075-01A-11D-1961-08	TCGA-HC-7075-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddc422e4-87e2-4fc0-b56b-ddc2d6a92f58	f10cbfd4-a508-4061-a2b0-767db51dc211	g.chrX:16720991G>T	ENST00000443824.1	-	2	778	c.35C>A	c.(34-36)tCa>tAa	p.S12*	CTPS2_ENST00000359276.4_Nonsense_Mutation_p.S12*|CTPS2_ENST00000380241.3_Nonsense_Mutation_p.S12*	NM_001144002.1	NP_001137474.1	Q9NRF8	PYRG2_HUMAN	CTP synthase 2	12					'de novo' CTP biosynthetic process (GO:0044210)|glutamine metabolic process (GO:0006541)|nucleobase-containing small molecule interconversion (GO:0015949)|nucleobase-containing small molecule metabolic process (GO:0055086)|pyrimidine nucleotide metabolic process (GO:0006220)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|CTP synthase activity (GO:0003883)			breast(1)|endometrium(3)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	Hepatocellular(33;0.0997)					ACCAATGCCTGAGATGACCCC	0.438																																						ENST00000443824.1																			0				breast(1)|endometrium(3)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19						c.(34-36)tCa>tAa		CTP synthase 2							146	123	131					X																	16720991		2203	4300	6503	SO:0001587	stop_gained	56474				glutamine metabolic process|nucleobase, nucleoside and nucleotide interconversion|pyrimidine nucleotide biosynthetic process	cytosol	ATP binding|CTP synthase activity	g.chrX:16720991G>T	AF086422	CCDS14175.1	Xp22	2012-05-02	2012-05-02		ENSG00000047230	ENSG00000047230	6.3.4.2		2520	protein-coding gene	gene with protein product		300380	"CTP synthase II"			10899599	Standard	NM_001144002		Approved		uc004cxm.3	Q9NRF8	OTTHUMG00000021193	ENST00000443824.1:c.35C>A	X.37:g.16720991G>T	ENSP00000401264:p.Ser12*					CTPS2_ENST00000380241.3_Nonsense_Mutation_p.S12*|CTPS2_ENST00000359276.4_Nonsense_Mutation_p.S12*	p.S12*	NM_001144002.1	NP_001137474.1	Q9NRF8	PYRG2_HUMAN			2	778	-	Hepatocellular(33;0.0997)		12					B3KWM2|Q9BRI0|Q9H809|Q9H8K9	Nonsense_Mutation	SNP	ENST00000443824.1	37	c.35C>A	CCDS14175.1	.	.	.	.	.	.	.	.	.	.	G	37	6.259937	0.97421	.	.	ENSG00000047230	ENST00000443824;ENST00000380241;ENST00000359276	.	.	.	5.52	5.52	0.82312	.	0.000000	0.56097	D	0.000034	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.3459	18.6316	0.91361	0.0:0.0:1.0:0.0	.	.	.	.	X	12	.	ENSP00000352222:S12X	S	-	2	0	CTPS2	16630912	1.000000	0.71417	0.681000	0.30009	0.020000	0.10135	9.395000	0.97266	2.342000	0.79632	0.525000	0.51046	TCA		0.438	CTPS2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055906.1	NM_019857		5	72	1	0	4.096e-09	0.001168	8.35918e-09	5	72					T	16720991	G	T	16720991	4	4	195	1	0	0	0	0	0	1	0	0	4023	1294	45	5	1793	5	CTPS2	23	16720991	Nonsense_Mutation	SNP	G	TCGA-HC-7075-01A-11D-1961-08		16720991	138549569	38	9062											
DACH2	117154	broad.mit.edu	37	chrX	86068206	86068206	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	acaagaaaagaaggagctgcGactggagctctatagagaga	17	5	13	6	1	1	4	0	0	1	4	1	8	1	6	0	2	3	2	0	2	6	2			TCGA-HC-7075-01A-11D-1961-08	TCGA-HC-7075-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddc422e4-87e2-4fc0-b56b-ddc2d6a92f58	f10cbfd4-a508-4061-a2b0-767db51dc211	g.chrX:86068206G>A	ENST00000373125.4	+	9	1463	c.1463G>A	c.(1462-1464)cGa>cAa	p.R488Q	DACH2_ENST00000373131.1_Missense_Mutation_p.R475Q|DACH2_ENST00000508860.1_Missense_Mutation_p.R321Q|DACH2_ENST00000510272.1_Missense_Mutation_p.R269Q	NM_053281.3	NP_444511.1	Q96NX9	DACH2_HUMAN	dachshund family transcription factor 2	488	DACHbox-C.				development of primary female sexual characteristics (GO:0046545)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(14)|lung(28)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	71						AAGGAGCTGCGACTGGAGCTC	0.413																																						ENST00000373131.1																			0				breast(2)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(14)|lung(28)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	71						c.(1423-1425)cGa>cAa		dachshund homolog 2 (Drosophila)							40	38	39					X																	86068206		2202	4300	6502	SO:0001583	missense	117154				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|nucleotide binding	g.chrX:86068206G>A	AF428101	CCDS14455.1, CCDS48140.1, CCDS55457.1	Xq21.3	2014-02-03	2014-02-03		ENSG00000126733	ENSG00000126733			16814	protein-coding gene	gene with protein product		300608	"dachshund homolog 2 (Drosophila)"				Standard	NM_053281		Approved		uc004eew.2	Q96NX9	OTTHUMG00000021944	ENST00000373125.4:c.1463G>A	X.37:g.86068206G>A	ENSP00000362217:p.Arg488Gln					DACH2_ENST00000510272.1_Missense_Mutation_p.R269Q|DACH2_ENST00000508860.1_Missense_Mutation_p.R321Q|DACH2_ENST00000477378.2_3'UTR|DACH2_ENST00000373125.4_Missense_Mutation_p.R488Q	p.R475Q	NM_001139514.1	NP_001132986.1	Q96NX9	DACH2_HUMAN			8	1587	+			488			DACHbox-C.		B1AJV3|B4DQG3|Q8NAY3|Q8ND17|Q96N55	Missense_Mutation	SNP	ENST00000373125.4	37	c.1424G>A	CCDS14455.1	.	.	.	.	.	.	.	.	.	.	G	10.50	1.366282	0.24684	.	.	ENSG00000126733	ENST00000344497;ENST00000373131;ENST00000373125;ENST00000508860;ENST00000510272;ENST00000400297;ENST00000484479	D;D	0.82526	-1.61;-1.62	5.19	2.46	0.29980	.	0.202992	0.31834	N	0.006992	T	0.67720	0.2923	L	0.29908	0.895	0.29444	N	0.858948	B;B;B;B	0.28880	0.029;0.226;0.117;0.054	B;B;B;B	0.17098	0.012;0.017;0.004;0.003	T	0.58515	-0.7623	10	0.34782	T	0.22	.	6.0792	0.19933	0.5556:0.0:0.4444:0.0	.	354;488;475;488	Q1RMF5;A8K3I1;Q96NX9-2;Q96NX9	.;.;.;DACH2_HUMAN	Q	488;475;488;321;269;321;153	ENSP00000362223:R475Q;ENSP00000362217:R488Q	ENSP00000345134:R488Q	R	+	2	0	DACH2	85954862	1.000000	0.71417	0.691000	0.30163	0.010000	0.07245	2.809000	0.47971	0.419000	0.25927	0.513000	0.50165	CGA		0.413	DACH2-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000359266.1	NM_053281		9	4	0	0	0	0.008291	0	9	4					A	86068206	G	A	86068206	3	1	195	1	0	0	0	0	1	0	0	0	4221	1058	37	2	1497	2	DACH2	23	86068206	Missense_Mutation	SNP	G	TCGA-HC-7075-01A-11D-1961-08	69347215	86068206	69202354	39	9063											
KIF17	57576	broad.mit.edu	37	chr1	20991143	20991143	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gccttggtgaaagggatgtcGagggactcgaggcggaaggg	9	6	20	6	3	0	1	0	1	0	0	2	6	0	4	1	6	0	0	1	6	2	1	rs115825348		TCGA-HC-7077-01A-11D-1961-08	TCGA-HC-7077-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd03be72-06ff-46b7-920e-533ae0988028	c7014407-f794-4174-bf47-38a2745c06b8	g.chr1:20991143G>A	ENST00000247986.2	-	15	3334	c.3024C>T	c.(3022-3024)ctC>ctT	p.L1008L	KIF17_ENST00000400463.3_Silent_p.L1007L|KIF17_ENST00000375044.1_Silent_p.L908L|KIF17_ENST00000490034.1_5'UTR			Q9P2E2	KIF17_HUMAN	kinesin family member 17	1008					ATP catabolic process (GO:0006200)|cell projection organization (GO:0030030)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|neurogenesis (GO:0022008)|protein complex localization (GO:0031503)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|intraciliary transport particle B (GO:0030992)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|plus-end-directed microtubule motor activity (GO:0008574)			NS(2)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50		all_lung(284;2.99e-05)|Lung NSC(340;3.26e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|COAD - Colon adenocarcinoma(152;1.43e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000168)|Kidney(64;0.000221)|GBM - Glioblastoma multiforme(114;0.000651)|KIRC - Kidney renal clear cell carcinoma(64;0.0031)|STAD - Stomach adenocarcinoma(196;0.00336)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.209)		AAGGGATGTCGAGGGACTCGA	0.602													G|||	1	0.000199681	8e-04	0	5008	,	,		11820	0		0	False		,,,				2504	0					ENST00000247986.2																			0				NS(2)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50						c.(3022-3024)ctC>ctT		kinesin family member 17							94	98	97					1																	20991143		2203	4300	6503	SO:0001819	synonymous_variant	57576				microtubule-based movement|protein transport	cytoplasm|microtubule	ATP binding	g.chr1:20991143G>A	AB037826	CCDS213.1, CCDS44079.1, CCDS72722.1	1p36.13	2012-08-01			ENSG00000117245	ENSG00000117245		"Kinesins"	19167	protein-coding gene	gene with protein product	"kinesin-like protein KIF17", "KIF3-related motor protein", "KIF17 variant protein"	605037				10846156	Standard	XR_241202		Approved	KIAA1405, KIF3X, KIF17B, OSM-3, KLP-2	uc001bdr.4	Q9P2E2	OTTHUMG00000002863	ENST00000247986.2:c.3024C>T	1.37:g.20991143G>A						KIF17_ENST00000490034.1_5'UTR|KIF17_ENST00000375044.1_Silent_p.L908L|KIF17_ENST00000400463.3_Silent_p.L1007L	p.L1008L			Q9P2E2	KIF17_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|COAD - Colon adenocarcinoma(152;1.43e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000168)|Kidney(64;0.000221)|GBM - Glioblastoma multiforme(114;0.000651)|KIRC - Kidney renal clear cell carcinoma(64;0.0031)|STAD - Stomach adenocarcinoma(196;0.00336)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.209)	15	3334	-		all_lung(284;2.99e-05)|Lung NSC(340;3.26e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)	1008					A2A3Q7|A2A3Q8|O95077|Q53YS6|Q5VWA9|Q6GSA8|Q8N411	Silent	SNP	ENST00000247986.2	37	c.3024C>T	CCDS213.1																																																																																				0.602	KIF17-009	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276995.1	NM_020816		11	135	0	0	0	0.008291	0	11	135					A	20991143	G	A	20991143	2	1	196	1	0	0	0	0	0	0	0	1	8279	1045	37	2		2	KIF17	1	20991143	Silent	SNP	G	TCGA-HC-7077-01A-11D-1961-08		20991143	228259478	1	9064											
HSPG2	3339	broad.mit.edu	37	chr1	22159980	22159980	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctggcacctgcaggtgggcaAaggctttgaccttgccctgg	6	9	14	12	0	0	1	0	1	0	0	0	1	0	1	3	5	2	4	3	5	1	2			TCGA-HC-7077-01A-11D-1961-08	TCGA-HC-7077-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd03be72-06ff-46b7-920e-533ae0988028	c7014407-f794-4174-bf47-38a2745c06b8	g.chr1:22159980A>G	ENST00000374695.3	-	79	11037	c.10958T>C	c.(10957-10959)tTt>tCt	p.F3653S	HSPG2_ENST00000486901.1_5'Flank	NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	3653	Ig-like C2-type 22.				angiogenesis (GO:0001525)|brain development (GO:0007420)|carbohydrate metabolic process (GO:0005975)|cardiac muscle tissue development (GO:0048738)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|chondrocyte differentiation (GO:0002062)|chondroitin sulfate metabolic process (GO:0030204)|embryonic skeletal system morphogenesis (GO:0048704)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|lipoprotein metabolic process (GO:0042157)|phototransduction, visible light (GO:0007603)|protein localization (GO:0008104)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	basal lamina (GO:0005605)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Palifermin(DB00039)	CAGGTGGGCAAAGGCTTTGAC	0.617																																						ENST00000374695.3																			0				breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127						c.(10957-10959)tTt>tCt		heparan sulfate proteoglycan 2	Becaplermin(DB00102)|Palifermin(DB00039)						72	59	63					1																	22159980		2203	4300	6503	SO:0001583	missense	3339				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding	g.chr1:22159980A>G	M85289	CCDS30625.1	1p36.1-p35	2013-01-29	2007-02-16	2007-02-16	ENSG00000142798	ENSG00000142798		"Proteoglycans / Extracellular Matrix : Other", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5273	protein-coding gene	gene with protein product	"perlecan proteoglycan"	142461	"Schwartz-Jampel syndrome 1 (chondrodystrophic myotonia)"	SJS1		1685141, 11941538	Standard	XM_005245863		Approved	perlecan, PRCAN	uc001bfj.3	P98160	OTTHUMG00000002674	ENST00000374695.3:c.10958T>C	1.37:g.22159980A>G	ENSP00000363827:p.Phe3653Ser						p.F3653S	NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	79	11037	-		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)	3653			Ig-like C2-type 22.		Q16287|Q5SZI3|Q9H3V5	Missense_Mutation	SNP	ENST00000374695.3	37	c.10958T>C	CCDS30625.1	.	.	.	.	.	.	.	.	.	.	A	19.81	3.896380	0.72639	.	.	ENSG00000142798	ENST00000374695	T	0.63580	-0.05	4.0	4.0	0.46444	Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.39407	N	0.001366	T	0.44871	0.1314	N	0.00569	-1.365	0.41228	D	0.986557	B;D	0.76494	0.24;0.999	B;D	0.87578	0.309;0.998	T	0.53012	-0.8498	10	0.12430	T	0.62	.	12.1634	0.54117	1.0:0.0:0.0:0.0	.	1593;3653	Q59EG0;P98160	.;PGBM_HUMAN	S	3653	ENSP00000363827:F3653S	ENSP00000363827:F3653S	F	-	2	0	HSPG2	22032567	1.000000	0.71417	0.987000	0.45799	0.920000	0.55202	5.205000	0.65186	1.805000	0.52779	0.260000	0.18958	TTT		0.617	HSPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007598.1	NM_005529		6	72	0	0	0	0.001984	0	6	72					G	22159980	A	G	22159980	3	3	196	1	0	0	0	0	1	0	0	0	7430	14	1	4	2293	4	HSPG2	1	22159980	Missense_Mutation	SNP	A	TCGA-HC-7077-01A-11D-1961-08	1168837	22159980	227090641	2	9065											
RPA2	6118	broad.mit.edu	37	chr1	28240635	28240635	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cccccggggactgcgtgtagCcgccggctcccccgtatgag	4	6	14	17	5	0	1	0	1	0	0	1	2	1	2	6	3	2	3	6	3	2	2			TCGA-HC-7077-01A-11D-1961-08	TCGA-HC-7077-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd03be72-06ff-46b7-920e-533ae0988028	c7014407-f794-4174-bf47-38a2745c06b8	g.chr1:28240635C>T	ENST00000373912.3	-	2	355	c.56G>A	c.(55-57)gGc>gAc	p.G19D	RPA2_ENST00000313433.7_Missense_Mutation_p.G107D|RPA2_ENST00000373909.3_Missense_Mutation_p.G27D	NM_002946.3	NP_002937.1	P15927	RFA2_HUMAN	replication protein A2, 32kDa	19	Gly/Ser-rich.				base-excision repair (GO:0006284)|DNA recombinase assembly (GO:0000730)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA strand elongation involved in DNA replication (GO:0006271)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|G1/S transition of mitotic cell cycle (GO:0000082)|mismatch repair (GO:0006298)|mitotic cell cycle (GO:0000278)|mitotic G1 DNA damage checkpoint (GO:0031571)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|nucleotide-excision repair, DNA gap filling (GO:0006297)|regulation of DNA damage checkpoint (GO:2000001)|regulation of double-strand break repair via homologous recombination (GO:0010569)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	DNA replication factor A complex (GO:0005662)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	damaged DNA binding (GO:0003684)|enzyme binding (GO:0019899)|protein phosphatase binding (GO:0019903)|single-stranded DNA binding (GO:0003697)|ubiquitin protein ligase binding (GO:0031625)			endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|prostate(3)|skin(1)	11		Colorectal(325;0.000147)|Renal(390;0.00357)|Lung NSC(340;0.00588)|all_lung(284;0.00645)|Breast(348;0.0174)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0545)|all_neural(195;0.0557)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0429)|OV - Ovarian serous cystadenocarcinoma(117;3.62e-24)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;1.75e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00294)|STAD - Stomach adenocarcinoma(196;0.00308)|BRCA - Breast invasive adenocarcinoma(304;0.00613)|READ - Rectum adenocarcinoma(331;0.0649)		CTGCGTGTAGCCGCCGGCTCC	0.537								Direct reversal of damage;Nucleotide excision repair (NER)																														ENST00000373912.3																			0				endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|prostate(3)|skin(1)	11						c.(55-57)gGc>gAc	Direct reversal of damage;Nucleotide excision repair (NER)	replication protein A2, 32kDa							40	48	45					1																	28240635		2203	4300	6503	SO:0001583	missense	6118				cell cycle checkpoint|DNA recombinase assembly|DNA strand elongation involved in DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA gap filling|regulation of double-strand break repair via homologous recombination|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	DNA replication factor A complex|PML body	protein phosphatase binding|single-stranded DNA binding	g.chr1:28240635C>T	BC021257	CCDS314.1, CCDS72740.1	1p35	2008-02-05	2002-08-29		ENSG00000117748	ENSG00000117748			10290	protein-coding gene	gene with protein product		179836	"replication protein A2 (32kD)"			8454588	Standard	XM_005245965		Approved		uc001bpe.1	P15927	OTTHUMG00000003915	ENST00000373912.3:c.56G>A	1.37:g.28240635C>T	ENSP00000363021:p.Gly19Asp					RPA2_ENST00000313433.7_Missense_Mutation_p.G107D|RPA2_ENST00000373909.3_Missense_Mutation_p.G27D	p.G19D	NM_002946.3	NP_002937.1	P15927	RFA2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0429)|OV - Ovarian serous cystadenocarcinoma(117;3.62e-24)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;1.75e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00294)|STAD - Stomach adenocarcinoma(196;0.00308)|BRCA - Breast invasive adenocarcinoma(304;0.00613)|READ - Rectum adenocarcinoma(331;0.0649)	2	355	-		Colorectal(325;0.000147)|Renal(390;0.00357)|Lung NSC(340;0.00588)|all_lung(284;0.00645)|Breast(348;0.0174)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0545)|all_neural(195;0.0557)	19			Gly/Ser-rich.		Q52II0|Q5TEI9|Q5TEJ5	Missense_Mutation	SNP	ENST00000373912.3	37	c.56G>A	CCDS314.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.126864	0.77549	.	.	ENSG00000117748	ENST00000373912;ENST00000373909;ENST00000313433;ENST00000444045	T;T;T;T	0.35048	1.64;1.47;1.35;1.33	4.6	4.6	0.57074	.	0.242113	0.42964	D	0.000627	T	0.48572	0.1507	M	0.81341	2.54	0.53005	D	0.999969	B;P	0.44946	0.306;0.846	B;P	0.44811	0.182;0.461	T	0.60485	-0.7254	10	0.87932	D	0	-7.5219	16.5451	0.84443	0.0:1.0:0.0:0.0	.	19;27	P15927;P15927-2	RFA2_HUMAN;.	D	19;27;107;23	ENSP00000363021:G19D;ENSP00000363017:G27D;ENSP00000363015:G107D;ENSP00000387649:G23D	ENSP00000363015:G107D	G	-	2	0	RPA2	28113222	1.000000	0.71417	0.893000	0.35052	0.973000	0.67179	6.074000	0.71253	2.265000	0.75225	0.561000	0.74099	GGC		0.537	RPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011179.1	NM_002946		5	63	0	0	0	0.001984	0	5	63					T	28240635	C	T	28240635	3	4	196	1	0	0	0	0	1	0	0	0	13537	739	26	3	788	3	RPA2	1	28240635	Missense_Mutation	SNP	C	TCGA-HC-7077-01A-11D-1961-08	6080655	28240635	221009986	3	9066											
CSMD2	114784	broad.mit.edu	37	chr1	34102147	34102147	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggatcaaaacatgactcccgCgggttttctgggaaaaagaa	14	8	11	8	2	2	2	1	1	1	1	3	4	3	4	1	3	1	1	1	3	5	2			TCGA-HC-7077-01A-11D-1961-08	TCGA-HC-7077-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd03be72-06ff-46b7-920e-533ae0988028	c7014407-f794-4174-bf47-38a2745c06b8	g.chr1:34102147C>T	ENST00000373380.1	-	9	1621	c.1401G>A	c.(1399-1401)ccG>ccA	p.P467P	CSMD2_ENST00000373388.2_5'UTR|CSMD2_ENST00000373381.4_Silent_p.P1594P			Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	1554	CUB 3. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.P1554P(1)		NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				ATGACTCCCGCGGGTTTTCTG	0.562																																						ENST00000373381.4																			1	Substitution - coding silent(1)	p.P1554P(1)	large_intestine(1)	NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246						c.(4780-4782)ccG>ccA		CUB and Sushi multiple domains 2							46	43	44					1																	34102147		2203	4300	6503	SO:0001819	synonymous_variant	114784					integral to membrane|plasma membrane	protein binding	g.chr1:34102147C>T	AY210418	CCDS380.1, CCDS60082.1	1p34.3	2014-01-28			ENSG00000121904	ENSG00000121904			19290	protein-coding gene	gene with protein product		608398				11472063, 11572484	Standard	NM_001281956		Approved	KIAA1884	uc001bxn.1	Q7Z408	OTTHUMG00000011135	ENST00000373380.1:c.1401G>A	1.37:g.34102147C>T						CSMD2_ENST00000373388.2_5'UTR|CSMD2_ENST00000373380.1_Silent_p.P467P	p.P1594P	NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN			30	4958	-		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)	1554			Sushi 9.		B1AM50|E7EUA6|Q53TY4|Q5VT59|Q8N963|Q96Q03|Q9H4V7|Q9H4V8|Q9H4V9|Q9H4W0|Q9H4W1|Q9H4W2|Q9H4W3|Q9H4W4|Q9HCY5|Q9HCY6|Q9HCY7	Silent	SNP	ENST00000373380.1	37	c.4782G>A																																																																																					0.562	CSMD2-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000030635.4	NM_052896		18	33	0	0	0	0.00499	0	18	33					T	34102147	C	T	34102147	2	4	196	1	0	0	0	0	0	0	0	1	3945	755	27	1		1	CSMD2	1	34102147	Silent	SNP	C	TCGA-HC-7077-01A-11D-1961-08	5861512	34102147	215148474	4	9067											
LRRC41	10489	broad.mit.edu	37	chr1	46751117	46751117	+	Frame_Shift_Del	DEL	G	G	-																															gggctgcctctgtggagagtGgaactgtgaatagctccaag																										TCGA-HC-7077-01A-11D-1961-08	TCGA-HC-7077-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd03be72-06ff-46b7-920e-533ae0988028	c7014407-f794-4174-bf47-38a2745c06b8	g.chr1:46751117delG	ENST00000343304.6	-	4	1697	c.1412delC	c.(1411-1413)ccafs	p.P471fs	LRRC41_ENST00000472710.1_5'UTR	NM_006369.4	NP_006360.3	Q15345	LRC41_HUMAN	leucine rich repeat containing 41	471					protein ubiquitination (GO:0016567)	membrane (GO:0016020)				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(3)|pancreas(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	28	Acute lymphoblastic leukemia(166;0.155)					TGTGGAGAGTGGAACTGTGAA	0.567																																						ENST00000343304.6																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(3)|pancreas(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	28						c.(1411-1413)cafs		leucine rich repeat containing 41							87	82	84					1																	46751117		2203	4300	6503	SO:0001589	frameshift_variant	10489							g.chr1:46751117delG	AK024051	CCDS533.1	1p34.1	2008-02-05			ENSG00000132128	ENSG00000132128			16917	protein-coding gene	gene with protein product						11384984	Standard	XM_005270376		Approved	MUF1	uc001cpn.3	Q15345	OTTHUMG00000007810	ENST00000343304.6:c.1412delC	1.37:g.46751117delG	ENSP00000343298:p.Pro471fs					LRRC41_ENST00000472710.1_5'UTR	p.P471fs	NM_006369.4	NP_006360.3	Q15345	LRC41_HUMAN			4	1697	-	Acute lymphoblastic leukemia(166;0.155)		471					A8K5G8|Q3MJ96|Q5TDF5|Q71RA8|Q9BSM0	Frame_Shift_Del	DEL	ENST00000343304.6	37	c.1412delC	CCDS533.1																																																																																				0.567	LRRC41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021438.1	NM_006369		13	77						13	77	---	---	---	---	-	46751117	G	-	46751117	7	5	196	1	0	1	0	1	0	0	0	0	8999	1348	47	0	1054	0	LRRC41	1	46751117	Frame_Shift_Del	DEL	G	TCGA-HC-7077-01A-11D-1961-08	12648970	46751117	202499504	5	9068											
TRIM33	51592	broad.mit.edu	37	chr1	114942114	114942114	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acagttcttgaagatcaaacGgacatcggccacaaagtcat	15	8	8	10	2	3	2	2	1	1	1	4	3	3	3	1	2	1	1	1	2	3	2			TCGA-HC-7077-01A-11D-1961-08	TCGA-HC-7077-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd03be72-06ff-46b7-920e-533ae0988028	c7014407-f794-4174-bf47-38a2745c06b8	g.chr1:114942114G>A	ENST00000358465.2	-	18	3168	c.3085C>T	c.(3085-3087)Cgt>Tgt	p.R1029C	TRIM33_ENST00000369543.2_Missense_Mutation_p.R1029C|TRIM33_ENST00000450349.2_Missense_Mutation_p.R661C	NM_015906.3	NP_056990.3	Q9UPN9	TRI33_HUMAN	tripartite motif containing 33	1029	Bromo. {ECO:0000255|PROSITE- ProRule:PRU00035}.				gene expression (GO:0010467)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|protein ubiquitination (GO:0016567)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	co-SMAD binding (GO:0070410)|DNA binding (GO:0003677)|ligase activity (GO:0016874)|R-SMAD binding (GO:0070412)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	48	all_epithelial(7;0.000132)|all_lung(7;0.00106)|Lung SC(450;0.184)	all_cancers(81;3.03e-08)|all_epithelial(167;3.24e-08)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		AAGATCAAACGGACATCGGCC	0.343			T	RET	papillary thyroid																																	ENST00000358465.2				Dom	yes		1	1p13	51592	T	" tripartite motif-containing 33 (PTC7,TIF1G)"			E	RET		papillary thyroid		0				breast(2)|central_nervous_system(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	48						c.(3085-3087)Cgt>Tgt		tripartite motif containing 33							125	134	131					1																	114942114		2203	4300	6503	SO:0001583	missense	51592				negative regulation of BMP signaling pathway|negative regulation of transcription, DNA-dependent|protein ubiquitination|regulation of transforming growth factor beta receptor signaling pathway|transcription, DNA-dependent	nucleus	co-SMAD binding|DNA binding|ligase activity|R-SMAD binding|zinc ion binding	g.chr1:114942114G>A	AF220136	CCDS872.1, CCDS873.1	1p13.1	2014-02-17	2011-01-25		ENSG00000197323	ENSG00000197323		"Tripartite motif containing / Tripartite motif containing", "Zinc fingers, PHD-type", "RING-type (C3HC4) zinc fingers"	16290	protein-coding gene	gene with protein product	"transcriptional intermediary factor 1 gamma", "ret-fused gene 7"	605769	"tripartite motif-containing 33"			11331580, 10022127	Standard	XM_005270936		Approved	TIF1GAMMA, FLJ11429, KIAA1113, TIFGAMMA, RFG7, TF1G, TIF1G, PTC7	uc001eew.3	Q9UPN9	OTTHUMG00000011891	ENST00000358465.2:c.3085C>T	1.37:g.114942114G>A	ENSP00000351250:p.Arg1029Cys					TRIM33_ENST00000450349.2_Missense_Mutation_p.R661C|TRIM33_ENST00000369543.2_Missense_Mutation_p.R1029C	p.R1029C	NM_015906.3	NP_056990.3	Q9UPN9	TRI33_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	18	3168	-	all_epithelial(7;0.000132)|all_lung(7;0.00106)|Lung SC(450;0.184)	all_cancers(81;3.03e-08)|all_epithelial(167;3.24e-08)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)	1029			Bromo.		O95855|Q5TG72|Q5TG73|Q5TG74|Q9C017|Q9UJ79	Missense_Mutation	SNP	ENST00000358465.2	37	c.3085C>T	CCDS872.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.187319	0.78789	.	.	ENSG00000197323	ENST00000358465;ENST00000369543;ENST00000450349	T;T;T	0.31247	1.5;1.5;1.5	5.4	4.48	0.54585	Bromodomain (6);	0.000000	0.85682	D	0.000000	T	0.59211	0.2177	H	0.95745	3.715	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.997;0.997;0.998	T	0.73626	-0.3923	10	0.87932	D	0	-7.2009	13.4008	0.60881	0.0:0.0:0.698:0.302	.	661;661;1029;1029	E7EN20;B3KN30;Q9UPN9-2;Q9UPN9	.;.;.;TRI33_HUMAN	C	1029;1029;661	ENSP00000351250:R1029C;ENSP00000358556:R1029C;ENSP00000412077:R661C	ENSP00000351250:R1029C	R	-	1	0	TRIM33	114743637	1.000000	0.71417	0.996000	0.52242	0.999000	0.98932	5.349000	0.66010	1.376000	0.46267	0.650000	0.86243	CGT		0.343	TRIM33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032854.1	NM_015906		24	135	0	0	0	0.01892	0	24	135					A	114942114	G	A	114942114	3	1	196	1	0	0	0	0	1	0	0	0	16504	1116	39	2	310	2	TRIM33	1	114942114	Missense_Mutation	SNP	G	TCGA-HC-7077-01A-11D-1961-08	68190997	114942114	134308507	6	9069											
HMCN1	83872	broad.mit.edu	37	chr1	185987441	185987441	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tatcggtgcatggcagcaaaTactgctggagaccacaagaa	14	7	11	9	1	0	2	0	0	0	2	1	3	0	2	1	3	4	4	1	3	5	2			TCGA-HC-7077-01A-11D-1961-08	TCGA-HC-7077-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd03be72-06ff-46b7-920e-533ae0988028	c7014407-f794-4174-bf47-38a2745c06b8	g.chr1:185987441T>C	ENST00000271588.4	+	34	5656	c.5427T>C	c.(5425-5427)aaT>aaC	p.N1809N	HMCN1_ENST00000367492.2_Silent_p.N1809N	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	1809	Ig-like C2-type 15.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						TGGCAGCAAATACTGCTGGAG	0.393																																						ENST00000271588.4																			0				NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						c.(5425-5427)aaT>aaC		hemicentin 1							140	141	141					1																	185987441		2203	4300	6503	SO:0001819	synonymous_variant	83872				response to stimulus|visual perception	basement membrane	calcium ion binding	g.chr1:185987441T>C	AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"Fibulins", "Immunoglobulin superfamily / I-set domain containing"	19194	protein-coding gene	gene with protein product	"fibulin 6"	608548	"age-related macular degeneration 1 (senile macular degeneration)"	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.5427T>C	1.37:g.185987441T>C						HMCN1_ENST00000367492.2_Silent_p.N1809N	p.N1809N	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN			34	5656	+			1809			Ig-like C2-type 15.		A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Silent	SNP	ENST00000271588.4	37	c.5427T>C	CCDS30956.1																																																																																				0.393	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935		32	92	0	0	0	0.015359	0	32	92					C	185987441	T	C	185987441	2	2	196	1	0	0	0	0	0	0	0	1	7220	1403	49	4		4	HMCN1	1	185987441	Silent	SNP	T	TCGA-HC-7077-01A-11D-1961-08	71045327	185987441	63263180	7	9070											
KCNK2	3776	broad.mit.edu	37	chr1	215368303	215368303	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gttttgtctccaggtggatcCgatattgaatatctggactt	8	16	10	7	1	2	1	0	1	2	0	4	4	3	3	2	3	0	1	2	3	3	6	rs149941939		TCGA-HC-7077-01A-11D-1961-08	TCGA-HC-7077-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd03be72-06ff-46b7-920e-533ae0988028	c7014407-f794-4174-bf47-38a2745c06b8	g.chr1:215368303C>T	ENST00000444842.2	+	6	981	c.831C>T	c.(829-831)tcC>tcT	p.S277S	KCNK2_ENST00000391894.2_Silent_p.S262S|KCNK2_ENST00000391895.2_Silent_p.S273S	NM_001017425.2|NM_014217.3	NP_001017425.2|NP_055032.1	O95069	KCNK2_HUMAN	potassium channel, subfamily K, member 2	277					G-protein coupled receptor signaling pathway (GO:0007186)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	endoplasmic reticulum (GO:0005783)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	outward rectifier potassium channel activity (GO:0015271)|potassium channel inhibitor activity (GO:0019870)|potassium ion leak channel activity (GO:0022841)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|upper_aerodigestive_tract(1)	30				OV - Ovarian serous cystadenocarcinoma(81;0.0399)|all cancers(67;0.0556)|GBM - Glioblastoma multiforme(131;0.068)	Dofetilide(DB00204)|Dronedarone(DB04855)	CAGGTGGATCCGATATTGAAT	0.373													C|||	1	0.000199681	8e-04	0	5008	,	,		14416	0		0	False		,,,				2504	0					ENST00000444842.2																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|upper_aerodigestive_tract(1)	30						c.(829-831)tcC>tcT		potassium channel, subfamily K, member 2	Dofetilide(DB00204)	C	,,	2,4404	4.2+/-10.8	0,2,2201	176	176	176		819,831,786	-9.6	0.5	1	dbSNP_134	176	0,8600		0,0,4300	yes	coding-synonymous,coding-synonymous,coding-synonymous	KCNK2	NM_001017424.2,NM_001017425.2,NM_014217.3	,,	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	,,	273/423,277/427,262/412	215368303	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	3776						outward rectifier potassium channel activity	g.chr1:215368303C>T	AF004711	CCDS31024.1, CCDS41466.1, CCDS41467.1	1q41	2012-03-07			ENSG00000082482	ENSG00000082482		"Potassium channels", "Voltage-gated ion channels / Potassium channels, Two-P"	6277	protein-coding gene	gene with protein product		603219				9721223, 16382106	Standard	NM_001017424		Approved	K2p2.1, TREK-1	uc001hkr.4	O95069	OTTHUMG00000037017	ENST00000444842.2:c.831C>T	1.37:g.215368303C>T						KCNK2_ENST00000391895.2_Silent_p.S273S|KCNK2_ENST00000391894.2_Silent_p.S262S	p.S277S	NM_001017425.2|NM_014217.3	NP_001017425.2|NP_055032.1	O95069	KCNK2_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0399)|all cancers(67;0.0556)|GBM - Glioblastoma multiforme(131;0.068)	6	981	+			277					A1Z1V3|A8K618|B2RCS4|B7ZL56|D3DTA5|Q5DP47|Q5DP48|Q9NRT2|Q9UNE3	Silent	SNP	ENST00000444842.2	37	c.831C>T	CCDS41467.1																																																																																				0.373	KCNK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089856.2	NM_014217		74	154	0	0	0	0.01441	0	74	154					T	215368303	C	T	215368303	2	4	196	1	0	0	0	0	0	0	0	1	8066	639	23	2		2	KCNK2	1	215368303	Silent	SNP	C	TCGA-HC-7077-01A-11D-1961-08	29380862	215368303	33882318	8	9071											
APOB	338	broad.mit.edu	37	chr2	21233706	21233706	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agttaggtcagccagagttcGtccagtaagctccacgccaa	11	8	10	12	2	1	1	1	0	0	1	4	1	3	1	4	1	2	4	4	1	3	3	rs147863759		TCGA-HC-7077-01A-11D-1961-08	TCGA-HC-7077-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd03be72-06ff-46b7-920e-533ae0988028	c7014407-f794-4174-bf47-38a2745c06b8	g.chr2:21233706G>A	ENST00000233242.1	-	26	6161	c.6034C>T	c.(6034-6036)Cga>Tga	p.R2012*		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	2012					artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCCAGAGTTCGTCCAGTAAGC	0.428																																						ENST00000233242.1																			0				NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	GRCh37	CM962634	APOB	M	rs147863759	c.(6034-6036)Cga>Tga		apolipoprotein B	Atorvastatin(DB01076)	G	stop/ARG	1,4405	2.1+/-5.4	0,1,2202	178	162	168		6034	1.3	0.1	2	dbSNP_134	168	0,8600		0,0,4300	no	stop-gained	APOB	NM_000384.2		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		2012/4564	21233706	1,13005	2203	4300	6503	SO:0001587	stop_gained	338				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	g.chr2:21233706G>A	M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"Apolipoproteins"	603	protein-coding gene	gene with protein product		107730	"apolipoprotein B (including Ag(x) antigen)"				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.6034C>T	2.37:g.21233706G>A	ENSP00000233242:p.Arg2012*						p.R2012*	NM_000384.2	NP_000375.2	P04114	APOB_HUMAN			26	6161	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		2012					O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Nonsense_Mutation	SNP	ENST00000233242.1	37	c.6034C>T	CCDS1703.1	.	.	.	.	.	.	.	.	.	.	G	42	9.516436	0.99193	2.27E-4	0.0	ENSG00000084674	ENST00000233242;ENST00000535079	.	.	.	5.46	1.32	0.21799	.	0.834050	0.10100	N	0.716077	.	.	.	.	.	.	0.09310	N	0.999991	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.2696	0.49131	0.0:0.3156:0.517:0.1674	.	.	.	.	X	2012	.	ENSP00000233242:R2012X	R	-	1	2	APOB	21087211	0.002000	0.14202	0.114000	0.21550	0.189000	0.23516	0.733000	0.26087	0.621000	0.30232	0.555000	0.69702	CGA		0.428	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1			39	107	0	0	0	0.021022	0	39	107					A	21233706	G	A	21233706	4	1	196	1	0	0	0	0	0	1	0	0	785	1153	40	1	7673	1	APOB	2	21233706	Nonsense_Mutation	SNP	G	TCGA-HC-7077-01A-11D-1961-08		21233706	221965667	9	9072											
NRXN1	9378	broad.mit.edu	37	chr2	50464003	50464003	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cggcttctttctgaacagtgCtaaaacctatggccagtctg	9	12	9	11	1	3	1	0	1	3	0	3	1	3	1	2	2	3	2	2	2	4	4			TCGA-HC-7077-01A-11D-1961-08	TCGA-HC-7077-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd03be72-06ff-46b7-920e-533ae0988028	c7014407-f794-4174-bf47-38a2745c06b8	g.chr2:50464003C>T	ENST00000406316.2	-	18	4946	c.3470G>A	c.(3469-3471)aGc>aAc	p.S1157N	NRXN1_ENST00000401669.2_Missense_Mutation_p.S1157N|NRXN1_ENST00000405472.3_Missense_Mutation_p.S1149N|NRXN1_ENST00000404971.1_Missense_Mutation_p.S1197N|NRXN1_ENST00000406859.3_Missense_Mutation_p.S1157N|NRXN1_ENST00000401710.1_Missense_Mutation_p.S175N|NRXN1_ENST00000331040.5_5'UTR|NRXN1_ENST00000342183.5_Missense_Mutation_p.S122N|NRXN1_ENST00000402717.3_Missense_Mutation_p.S1149N	NM_004801.4	NP_004792.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	1157	Laminin G-like 6. {ECO:0000255|PROSITE- ProRule:PRU00122}.				adult behavior (GO:0030534)|axon guidance (GO:0007411)|calcium-dependent cell-cell adhesion (GO:0016339)|cerebellar granule cell differentiation (GO:0021707)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|gamma-aminobutyric acid receptor clustering (GO:0097112)|gephyrin clustering (GO:0097116)|guanylate kinase-associated protein clustering (GO:0097117)|heterophilic cell-cell adhesion (GO:0007157)|learning (GO:0007612)|N-methyl-D-aspartate receptor clustering (GO:0097114)|negative regulation of filopodium assembly (GO:0051490)|neuroligin clustering (GO:0097118)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|neuron maturation (GO:0042551)|neurotransmitter secretion (GO:0007269)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|receptor localization to synapse (GO:0097120)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic vesicle clustering (GO:0097091)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	axonal growth cone (GO:0044295)|cell junction (GO:0030054)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	acetylcholine receptor binding (GO:0033130)|calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|cell adhesion molecule binding (GO:0050839)|neuroligin family protein binding (GO:0097109)|receptor activity (GO:0004872)			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			CTGAACAGTGCTAAAACCTAT	0.448																																						ENST00000404971.1																			0				breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58						c.(3589-3591)aGc>aAc		neurexin 1							124	111	115					2																	50464003		2203	4300	6503	SO:0001583	missense	9378				adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity	g.chr2:50464003C>T	AB011150	CCDS1845.1, CCDS46282.1, CCDS54360.1	2p16.3	2008-05-15			ENSG00000179915	ENSG00000179915			8008	protein-coding gene	gene with protein product		600565					Standard	NM_001135659		Approved	KIAA0578, Hs.22998	uc021vhj.1	P58400	OTTHUMG00000129263	ENST00000406316.2:c.3470G>A	2.37:g.50464003C>T	ENSP00000384311:p.Ser1157Asn					NRXN1_ENST00000405472.3_Missense_Mutation_p.S1149N|NRXN1_ENST00000402717.3_Missense_Mutation_p.S1149N|NRXN1_ENST00000331040.5_5'UTR|NRXN1_ENST00000401710.1_Missense_Mutation_p.S175N|NRXN1_ENST00000401669.2_Missense_Mutation_p.S1157N|NRXN1_ENST00000342183.5_Missense_Mutation_p.S122N|NRXN1_ENST00000406316.2_Missense_Mutation_p.S1157N|NRXN1_ENST00000406859.3_Missense_Mutation_p.S1157N	p.S1197N	NM_001135659.1	NP_001129131.1	Q9ULB1	NRX1A_HUMAN	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)		19	4929	-		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	1157			Laminin G-like 6.		A7KRL9|O60323|Q53TJ9|Q53TQ1|Q9C079|Q9C080|Q9C081|Q9H3M2|Q9UDM6	Missense_Mutation	SNP	ENST00000406316.2	37	c.3590G>A	CCDS54360.1	.	.	.	.	.	.	.	.	.	.	C	33	5.245244	0.95272	.	.	ENSG00000179915	ENST00000342183;ENST00000536347;ENST00000401710;ENST00000404971;ENST00000406316;ENST00000405472;ENST00000401669;ENST00000536085;ENST00000402717;ENST00000406859	T;T;T;T;T;T;T;T	0.79554	0.98;-1.28;-1.28;-1.28;-1.28;-1.28;-1.28;-1.28	5.68	5.68	0.88126	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.000000	0.64402	U	0.000001	D	0.90954	0.7156	M	0.84948	2.725	0.48395	D	0.999641	D;D;D;P	0.69078	0.996;0.997;0.966;0.894	P;D;P;P	0.71656	0.878;0.974;0.655;0.624	D	0.91403	0.5145	10	0.62326	D	0.03	.	19.7969	0.96490	0.0:1.0:0.0:0.0	.	1197;122;1157;1149	Q9ULB1-3;P58400;F8WB18;A7E294	.;NRX1B_HUMAN;.;.	N	122;76;175;1197;1157;1149;1157;1198;1149;1157	ENSP00000341184:S122N;ENSP00000385580:S175N;ENSP00000385142:S1197N;ENSP00000384311:S1157N;ENSP00000434015:S1149N;ENSP00000385017:S1157N;ENSP00000385434:S1149N;ENSP00000385681:S1157N	ENSP00000341184:S122N	S	-	2	0	NRXN1	50317507	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	5.868000	0.69605	2.679000	0.91253	0.650000	0.86243	AGC		0.448	NRXN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000325291.2			17	47	0	0	0	0.007413	0	17	47					T	50464003	C	T	50464003	3	4	196	1	0	0	0	0	1	0	0	0	10665	797	28	3	1077	3	NRXN1	2	50464003	Missense_Mutation	SNP	C	TCGA-HC-7077-01A-11D-1961-08	29230297	50464003	192735370	10	9073											
SP140	11262	broad.mit.edu	37	chr2	231155227	231155227	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttaaggctcctttgcttccAgtgacctgtggtggggtgaa	6	14	13	8	0	0	2	0	2	0	0	2	2	2	2	3	4	1	2	3	4	2	4			TCGA-HC-7077-01A-11D-1961-08	TCGA-HC-7077-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd03be72-06ff-46b7-920e-533ae0988028	c7014407-f794-4174-bf47-38a2745c06b8	g.chr2:231155227A>G	ENST00000392045.3	+	19	1887	c.1773A>G	c.(1771-1773)ccA>ccG	p.P591P	SP140_ENST00000350136.5_Silent_p.P460P|SP140_ENST00000420434.3_Silent_p.P564P|SP140_ENST00000417495.3_Silent_p.P477P|SP140_ENST00000486687.2_Silent_p.P515P|SP140_ENST00000343805.6_Silent_p.P531P	NM_007237.4	NP_009168.4	Q13342	SP140_HUMAN	SP140 nuclear body protein	591	SAND. {ECO:0000255|PROSITE- ProRule:PRU00185}.				defense response (GO:0006952)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	12		Renal(207;0.0112)|all_lung(227;0.0221)|Lung NSC(271;0.0977)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		CTTTGCTTCCAGTGACCTGTG	0.418																																						ENST00000392045.3																			0				NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	12						c.(1771-1773)ccA>ccG		SP140 nuclear body protein							163	154	157					2																	231155227		1868	4100	5968	SO:0001819	synonymous_variant	11262				defense response	cytoplasm|nuclear envelope|nucleolus|nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr2:231155227A>G	U63420	CCDS33392.1, CCDS42831.1, CCDS63149.1, CCDS63150.1, CCDS63151.1	2q37.1	2013-01-28			ENSG00000079263	ENSG00000079263		"Zinc fingers, PHD-type"	17133	protein-coding gene	gene with protein product		608602				8695863, 8910577, 12368356	Standard	NM_001005176		Approved	LYSP100-B, LYSP100-A	uc002vql.3	Q13342	OTTHUMG00000153670	ENST00000392045.3:c.1773A>G	2.37:g.231155227A>G						SP140_ENST00000486687.2_Silent_p.P515P|SP140_ENST00000343805.6_Silent_p.P531P|SP140_ENST00000417495.3_Silent_p.P477P|SP140_ENST00000350136.5_Silent_p.P460P|SP140_ENST00000420434.3_Silent_p.P564P	p.P591P	NM_007237.4	NP_009168.4	Q13342	LY10_HUMAN		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)	19	1887	+		Renal(207;0.0112)|all_lung(227;0.0221)|Lung NSC(271;0.0977)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167)	591			SAND.		E7ESH9|E7EUR5|E9PFJ6|Q0VGE5|Q13341|Q3KR17|Q4ZG66|Q53TG1|Q6NSG4|Q92881|Q96TG3	Silent	SNP	ENST00000392045.3	37	c.1773A>G	CCDS42831.1																																																																																				0.418	SP140-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000332015.1	NM_007237		4	105	0	0	0	0.009096	0	4	105					G	231155227	A	G	231155227	2	3	196	1	0	0	0	0	0	0	0	1	14962	175	7	4		4	SP140	2	231155227	Silent	SNP	A	TCGA-HC-7077-01A-11D-1961-08	180691224	231155227	12044146	11	9074											
GRIP2	80852	broad.mit.edu	37	chr3	14536380	14536380	+	RNA	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgtcgaagggctggaggcCtccacggtgggctggcccat	5	7	16	13	2	0	0	0	0	0	0	2	2	1	1	4	6	0	2	4	6	1	0			TCGA-HC-7077-01A-11D-1961-08	TCGA-HC-7077-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd03be72-06ff-46b7-920e-533ae0988028	c7014407-f794-4174-bf47-38a2745c06b8	g.chr3:14536380C>T	ENST00000273083.3	-	0	3005							Q9C0E4	GRIP2_HUMAN	glutamate receptor interacting protein 2						synaptic transmission (GO:0007268)	cytosol (GO:0005829)|plasma membrane (GO:0005886)				endometrium(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	25						GGCTGGAGGCCTCCACGGTGG	0.612																																						ENST00000273083.3																			0				endometrium(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	25								glutamate receptor interacting protein 2							50	52	51					3																	14536380		1953	4145	6098			80852				synaptic transmission	cytosol|plasma membrane	protein binding	g.chr3:14536380C>T	AB051506		3p24-p23	2012-02-08			ENSG00000144596	ENSG00000144596			23841	protein-coding gene	gene with protein product							Standard	NM_001080423		Approved	KIAA1719	uc021wtn.1	Q9C0E4	OTTHUMG00000155544		3.37:g.14536380C>T										Q9C0E4	GRIP2_HUMAN			0	3005	-								Q8TEH9|Q9H7H3	RNA	SNP	ENST00000273083.3	37																																																																																						0.612	GRIP2-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000340582.2	NM_001080423		12	43	0	0	0	0.010729	0	12	43					T	14536380	C	T	14536380	1	4	196	0	1	0	0	0	0	0	0	0	6788	681	24	3		3	GRIP2	3	14536380	RNA	SNP	C	TCGA-HC-7077-01A-11D-1961-08		14536380	183486050	12	9075											
FGD5	152273	broad.mit.edu	37	chr3	14863047	14863047	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aatgatggctacgtggacatGagcagcttcaacgcctttga	11	10	11	9	2	1	3	1	3	0	0	1	4	1	4	1	2	4	3	1	2	3	3			TCGA-HC-7077-01A-11D-1961-08	TCGA-HC-7077-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd03be72-06ff-46b7-920e-533ae0988028	c7014407-f794-4174-bf47-38a2745c06b8	g.chr3:14863047G>A	ENST00000285046.5	+	1	2579	c.2469G>A	c.(2467-2469)atG>atA	p.M823I	FGD5_ENST00000543601.1_Missense_Mutation_p.M582I	NM_152536.3	NP_689749.3	Q6ZNL6	FGD5_HUMAN	FYVE, RhoGEF and PH domain containing 5	823					actin cytoskeleton organization (GO:0030036)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|small GTPase binding (GO:0031267)			NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1)	54						ACGTGGACATGAGCAGCTTCA	0.532																																						ENST00000285046.5																			0				NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1)	54						c.(2467-2469)atG>atA		FYVE, RhoGEF and PH domain containing 5							41	44	43					3																	14863047		2201	4296	6497	SO:0001583	missense	152273				actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding	g.chr3:14863047G>A	AK097276	CCDS46767.1	3p25.1	2013-01-10			ENSG00000154783	ENSG00000154783		"Zinc fingers, FYVE domain containing", "Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	19117	protein-coding gene	gene with protein product		614788					Standard	NM_152536		Approved	ZFYVE23, FLJ39957, FLJ00274	uc003bzc.3	Q6ZNL6	OTTHUMG00000155556	ENST00000285046.5:c.2469G>A	3.37:g.14863047G>A	ENSP00000285046:p.Met823Ile					FGD5_ENST00000543601.1_Missense_Mutation_p.M582I	p.M823I	NM_152536.3	NP_689749.3	Q6ZNL6	FGD5_HUMAN			1	2579	+			823					B3KVQ3|Q6MZY1|Q7Z303|Q8IYP3|Q8N861|Q8N8G4	Missense_Mutation	SNP	ENST00000285046.5	37	c.2469G>A	CCDS46767.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	24.6|24.6	4.554398|4.554398	0.86231|0.86231	.|.	.|.	ENSG00000154783|ENSG00000154783	ENST00000457774|ENST00000285046;ENST00000543601	.|T;T	.|0.77620	.|-1.11;-0.94	5.03|5.03	5.03|5.03	0.67393|0.67393	.|.	.|0.000000	.|0.64402	.|D	.|0.000001	D|D	0.88020|0.88020	0.6325|0.6325	M|M	0.76002|0.76002	2.32|2.32	0.80722|0.80722	D|D	1|1	.|D;D	.|0.76494	.|0.999;0.999	.|D;D	.|0.78314	.|0.991;0.967	D|D	0.88797|0.88797	0.3282|0.3282	5|10	.|0.59425	.|D	.|0.04	-39.1015|-39.1015	18.7482|18.7482	0.91802|0.91802	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|582;823	.|B7ZM68;Q6ZNL6	.|.;FGD5_HUMAN	K|I	37|823;582	.|ENSP00000285046:M823I;ENSP00000445949:M582I	.|ENSP00000285046:M823I	E|M	+|+	1|3	0|0	FGD5|FGD5	14838051|14838051	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.990000|0.990000	0.78478|0.78478	9.235000|9.235000	0.95353|0.95353	2.495000|2.495000	0.84180|0.84180	0.591000|0.591000	0.81541|0.81541	GAG|ATG		0.532	FGD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340628.1	NM_152536		8	65	0	0	0	0.00308	0	8	65					A	14863047	G	A	14863047	3	1	196	1	0	0	0	0	1	0	0	0	5836	1290	45	3	2471	3	FGD5	3	14863047	Missense_Mutation	SNP	G	TCGA-HC-7077-01A-11D-1961-08	326667	14863047	183159383	13	9076											
C3orf38	285237	broad.mit.edu	37	chr3	88205229	88205229	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgtcgcctaggagaagaatTctgtcattggttctttggac	8	14	11	8	2	3	2	1	0	2	2	5	4	3	3	1	3	0	1	1	3	3	5			TCGA-HC-7077-01A-11D-1961-08	TCGA-HC-7077-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd03be72-06ff-46b7-920e-533ae0988028	c7014407-f794-4174-bf47-38a2745c06b8	g.chr3:88205229T>C	ENST00000318887.3	+	3	744	c.434T>C	c.(433-435)tTc>tCc	p.F145S	C3orf38_ENST00000486971.1_Intron	NM_173824.3	NP_776185.2	Q5JPI3	CC038_HUMAN	chromosome 3 open reading frame 38	145					apoptotic process (GO:0006915)					breast(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	12		Lung NSC(201;0.17)		UCEC - Uterine corpus endometrioid carcinoma (27;0.194)|LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00661)		GGAGAAGAATTCTGTCATTGG	0.368																																						ENST00000318887.3																			0				breast(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	12						c.(433-435)tTc>tCc		chromosome 3 open reading frame 38							70	69	69					3																	88205229		2203	4300	6503	SO:0001583	missense	285237				apoptosis			g.chr3:88205229T>C	AL832398	CCDS2921.1, CCDS2921.2	3p11.1	2011-01-25			ENSG00000179021	ENSG00000179021			28384	protein-coding gene	gene with protein product						12477932	Standard	NM_173824		Approved	MGC26717	uc003dqw.3	Q5JPI3	OTTHUMG00000155752	ENST00000318887.3:c.434T>C	3.37:g.88205229T>C	ENSP00000322469:p.Phe145Ser					C3orf38_ENST00000486971.1_Intron	p.F145S	NM_173824.3	NP_776185.2	Q5JPI3	CC038_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.194)|LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00661)	3	744	+		Lung NSC(201;0.17)	145					B2R8X6|Q8TC85	Missense_Mutation	SNP	ENST00000318887.3	37	c.434T>C	CCDS2921.2	.	.	.	.	.	.	.	.	.	.	T	25.5	4.640801	0.87859	.	.	ENSG00000179021	ENST00000318887	.	.	.	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	T	0.79358	0.4432	M	0.79011	2.435	0.80722	D	1	D	0.76494	0.999	D	0.72075	0.976	T	0.82118	-0.0615	9	0.87932	D	0	-15.5289	15.3694	0.74551	0.0:0.0:0.0:1.0	.	145	Q5JPI3	CC038_HUMAN	S	145	.	ENSP00000322469:F145S	F	+	2	0	C3orf38	88287919	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	7.348000	0.79366	2.215000	0.71742	0.460000	0.39030	TTC		0.368	C3orf38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341513.1	NM_173824		17	24	0	0	0	0.00499	0	17	24					C	88205229	T	C	88205229	3	2	196	1	0	0	0	0	1	0	0	0	2228	1783	62	4	444	4	C3orf38	3	88205229	Missense_Mutation	SNP	T	TCGA-HC-7077-01A-11D-1961-08	73342182	88205229	109817201	14	9077											
PARP9	83666	broad.mit.edu	37	chr3	122259686	122259686	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttttctcttttctcctctctGgttgactgggggactgaaat	5	18	9	9	0	3	2	0	2	3	0	6	3	3	3	1	3	0	1	1	3	1	5			TCGA-HC-7077-01A-11D-1961-08	TCGA-HC-7077-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd03be72-06ff-46b7-920e-533ae0988028	c7014407-f794-4174-bf47-38a2745c06b8	g.chr3:122259686G>C	ENST00000360356.2	-	8	1730	c.1503C>G	c.(1501-1503)acC>acG	p.T501T	PARP9_ENST00000492382.1_Silent_p.T46T|PARP9_ENST00000471785.1_Silent_p.T466T|PARP9_ENST00000477522.2_Silent_p.T466T|PARP9_ENST00000462315.1_Silent_p.T466T	NM_001146102.1|NM_031458.2	NP_001139574.1|NP_113646.2	Q8IXQ6	PARP9_HUMAN	poly (ADP-ribose) polymerase family, member 9	501					cell migration (GO:0016477)|double-strand break repair (GO:0006302)|regulation of response to interferon-gamma (GO:0060330)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	NAD+ ADP-ribosyltransferase activity (GO:0003950)			endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(3)	34				GBM - Glioblastoma multiforme(114;0.0519)		TCTCCTCTCTGGTTGACTGGG	0.448																																						ENST00000462315.1																			0				endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(3)	34						c.(1396-1398)acC>acG		poly (ADP-ribose) polymerase family, member 9							95	98	97					3																	122259686		2203	4300	6503	SO:0001819	synonymous_variant	83666				cell migration	cytosol|nucleus	NAD+ ADP-ribosyltransferase activity|protein binding	g.chr3:122259686G>C	AF307339	CCDS3014.1, CCDS54633.1, CCDS54634.1	3q13-q21	2010-02-16			ENSG00000138496	ENSG00000138496		"Poly (ADP-ribose) polymerases"	24118	protein-coding gene	gene with protein product		612065				11110709	Standard	NM_031458		Approved	BAL, BAL1	uc003efi.3	Q8IXQ6	OTTHUMG00000159522	ENST00000360356.2:c.1503C>G	3.37:g.122259686G>C						PARP9_ENST00000471785.1_Silent_p.T466T|PARP9_ENST00000477522.2_Silent_p.T466T|PARP9_ENST00000360356.2_Silent_p.T501T|PARP9_ENST00000492382.1_Silent_p.T46T	p.T466T	NM_001146106.1	NP_001139578.1	Q8IXQ6	PARP9_HUMAN		GBM - Glioblastoma multiforme(114;0.0519)	8	1691	-			501			Macro 2.		A8KA94|B2R8S9|E9PFM7|Q8TCP3|Q9BZL8|Q9BZL9	Silent	SNP	ENST00000360356.2	37	c.1398C>G	CCDS3014.1																																																																																				0.448	PARP9-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000355957.1	NM_031458		17	161	0	0	0	0.012319	0	17	161					C	122259686	G	C	122259686	2	2	196	1	0	0	0	0	0	0	0	1	11466	1335	47	5		5	PARP9	3	122259686	Silent	SNP	G	TCGA-HC-7077-01A-11D-1961-08	34054457	122259686	75762744	15	9078											
RBM22	55696	broad.mit.edu	37	chr5	150073641	150073641	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	aatagtttaattctcaccttCcccatttcacattcagtctg	10	16	3	12	0	4	0	3	0	2	0	6	0	5	0	3	0	0	1	3	0	3	7			TCGA-HC-7077-01A-11D-1961-08	TCGA-HC-7077-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd03be72-06ff-46b7-920e-533ae0988028	c7014407-f794-4174-bf47-38a2745c06b8	g.chr5:150073641C>T	ENST00000199814.4	-	8	1029	c.908G>A	c.(907-909)gGa>gAa	p.G303E	RBM22_ENST00000447771.2_Missense_Mutation_p.G254E|RBM22_ENST00000540000.1_Missense_Mutation_p.G254E	NM_018047.2	NP_060517.1	Q9NW64	RBM22_HUMAN	RNA binding motif protein 22	303	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.				cellular response to drug (GO:0035690)|mRNA cis splicing, via spliceosome (GO:0045292)|mRNA splicing, via spliceosome (GO:0000398)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of RNA splicing (GO:0033120)|protein import into nucleus, translocation (GO:0000060)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	calcium-dependent protein binding (GO:0048306)|metal ion binding (GO:0046872)|nucleocytoplasmic transporter activity (GO:0005487)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|pre-mRNA binding (GO:0036002)|snRNA binding (GO:0017069)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(4)|ovary(1)	17		Medulloblastoma(196;0.167)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TTCTCACCTTCCCCATTTCAC	0.388																																						ENST00000199814.4																			0				breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(4)|ovary(1)	17						c.(907-909)gGa>gAa		RNA binding motif protein 22							94	94	94					5																	150073641		2203	4300	6503	SO:0001583	missense	55696				protein import into nucleus, translocation	catalytic step 2 spliceosome|cytoplasm	calcium-dependent protein binding|nucleotide binding|RNA binding|zinc ion binding	g.chr5:150073641C>T	AL136933	CCDS34278.1	5q33.1	2013-02-12			ENSG00000086589	ENSG00000086589		"Zinc fingers, CCCH-type domain containing", "RNA binding motif (RRM) containing"	25503	protein-coding gene	gene with protein product	"functional spliceosome-associated protein 47"	612430				20013661, 19133299	Standard	NM_018047		Approved	FLJ10290, ZC3H16, fSAP47, Cwc2	uc031slu.1	Q9NW64	OTTHUMG00000163589	ENST00000199814.4:c.908G>A	5.37:g.150073641C>T	ENSP00000199814:p.Gly303Glu					RBM22_ENST00000540000.1_Missense_Mutation_p.G254E|RBM22_ENST00000447771.2_Missense_Mutation_p.G254E	p.G303E	NM_018047.2	NP_060517.1	Q9NW64	RBM22_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		8	1029	-		Medulloblastoma(196;0.167)	303			RRM.		A6NDM5|B4DLI9|O95607	Missense_Mutation	SNP	ENST00000199814.4	37	c.908G>A	CCDS34278.1	.	.	.	.	.	.	.	.	.	.	C	31	5.058430	0.93846	.	.	ENSG00000086589	ENST00000199814;ENST00000540000;ENST00000447771	T;T;T	0.36157	1.27;1.27;1.27	5.76	5.76	0.90799	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (1);	0.149392	0.64402	D	0.000011	T	0.65943	0.2740	M	0.82823	2.61	0.80722	D	1	D	0.76494	0.999	D	0.73708	0.981	T	0.69483	-0.5133	10	0.87932	D	0	.	19.976	0.97309	0.0:1.0:0.0:0.0	.	303	Q9NW64	RBM22_HUMAN	E	303;254;254	ENSP00000199814:G303E;ENSP00000441594:G254E;ENSP00000412118:G254E	ENSP00000199814:G303E	G	-	2	0	RBM22	150053834	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.729000	0.84864	2.713000	0.92767	0.655000	0.94253	GGA		0.388	RBM22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374431.2	NM_018047		11	71	0	0	0	0.010729	0	11	71					T	150073641	C	T	150073641	3	4	196	1	0	0	0	0	1	0	0	0	13122	855	30	3	370	3	RBM22	5	150073641	Missense_Mutation	SNP	C	TCGA-HC-7077-01A-11D-1961-08		150073641	30841619	16	9079											
GABRB2	2561	broad.mit.edu	37	chr5	160886666	160886666	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggtgccatcaggatgcaggCgaatcatgcggttcttaaca	10	9	12	10	3	3	0	2	0	1	0	3	2	3	1	1	4	4	2	1	4	2	2			TCGA-HC-7077-01A-11D-1961-08	TCGA-HC-7077-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd03be72-06ff-46b7-920e-533ae0988028	c7014407-f794-4174-bf47-38a2745c06b8	g.chr5:160886666C>T	ENST00000393959.1	-	4	421	c.422G>A	c.(421-423)cGc>cAc	p.R141H	GABRB2_ENST00000520240.1_Missense_Mutation_p.R141H|GABRB2_ENST00000274547.2_Missense_Mutation_p.R141H|GABRB2_ENST00000517901.1_Missense_Mutation_p.R78H|GABRB2_ENST00000353437.6_Missense_Mutation_p.R141H|GABRB2_ENST00000517547.1_Intron			P47870	GBRB2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 2	141					cellular response to histamine (GO:0071420)|chloride transmembrane transport (GO:1902476)|cochlea development (GO:0090102)|gamma-aminobutyric acid signaling pathway (GO:0007214)|inner ear receptor cell development (GO:0060119)|innervation (GO:0060384)|ion transmembrane transport (GO:0034220)|negative regulation of neuron apoptotic process (GO:0043524)|sensory perception of sound (GO:0007605)|synaptic transmission (GO:0007268)|synaptic transmission, GABAergic (GO:0051932)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|GABA-A receptor complex (GO:1902711)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|GABA-A receptor activity (GO:0004890)|inhibitory extracellular ligand-gated ion channel activity (GO:0005237)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(9)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	26	Renal(175;0.00259)	Medulloblastoma(196;0.021)|all_neural(177;0.0463)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Fospropofol(DB06716)|Ginkgo biloba(DB01381)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	AGGATGCAGGCGAATCATGCG	0.443																																						ENST00000274547.2																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(9)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	26						c.(421-423)cGc>cAc		gamma-aminobutyric acid (GABA) A receptor, beta 2	Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)						102	93	96					5																	160886666		2203	4300	6503	SO:0001583	missense	0				gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|GABA-A receptor activity	g.chr5:160886666C>T		CCDS4354.1, CCDS4355.1	5q34	2012-06-22			ENSG00000145864	ENSG00000145864		"GABA receptors", "Ligand-gated ion channels / GABA(A) receptors"	4082	protein-coding gene	gene with protein product	"GABA(A) receptor, beta 2"	600232				7851879	Standard	NM_000813		Approved		uc003lys.1	P47870	OTTHUMG00000130349	ENST00000393959.1:c.422G>A	5.37:g.160886666C>T	ENSP00000377531:p.Arg141His					GABRB2_ENST00000517901.1_Missense_Mutation_p.R78H|GABRB2_ENST00000393959.1_Missense_Mutation_p.R141H|GABRB2_ENST00000517547.1_Intron|GABRB2_ENST00000353437.6_Missense_Mutation_p.R141H|GABRB2_ENST00000520240.1_Missense_Mutation_p.R141H	p.R141H	NM_000813.2|NM_021911.2	NP_000804.1|NP_068711.1	P47870	GBRB2_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		5	639	-	Renal(175;0.00259)	Medulloblastoma(196;0.021)|all_neural(177;0.0463)	141					A8K115|A8K1A0|D1LYT0|D1LYT1|Q16323|Q4FZB2	Missense_Mutation	SNP	ENST00000393959.1	37	c.422G>A	CCDS4355.1	.	.	.	.	.	.	.	.	.	.	C	34	5.354683	0.95854	.	.	ENSG00000145864	ENST00000393959;ENST00000274547;ENST00000353437;ENST00000520240;ENST00000517901	T;T;T;T;T	0.79352	-1.26;-1.26;-1.26;-1.26;-1.26	4.97	4.97	0.65823	Neurotransmitter-gated ion-channel ligand-binding (3);	0.000000	0.85682	D	0.000000	D	0.90480	0.7018	M	0.89840	3.065	0.80722	D	1	D;D;D;D	0.89917	1.0;0.998;0.999;0.998	D;D;D;D	0.91635	0.999;0.95;0.952;0.962	D	0.92469	0.5984	10	0.87932	D	0	.	18.6117	0.91288	0.0:1.0:0.0:0.0	.	141;78;141;141	B7Z4P0;E7EV50;P47870;P47870-1	.;.;GBRB2_HUMAN;.	H	141;141;141;141;78	ENSP00000377531:R141H;ENSP00000274547:R141H;ENSP00000274546:R141H;ENSP00000429320:R141H;ENSP00000430532:R78H	ENSP00000274547:R141H	R	-	2	0	GABRB2	160819244	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.684000	0.84104	2.455000	0.83008	0.655000	0.94253	CGC		0.443	GABRB2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252704.1			14	59	0	0	0	0.024245	0	14	59					T	160886666	C	T	160886666	3	4	196	1	0	0	0	0	1	0	0	0	6167	768	27	1	1144	1	GABRB2	5	160886666	Missense_Mutation	SNP	C	TCGA-HC-7077-01A-11D-1961-08	10813025	160886666	20028594	17	9080											
TCP11	6954	broad.mit.edu	37	chr6	35088704	35088704	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	actaggctgcttattgaggaGttcctggaatttagcccgtt	8	14	11	8	1	0	1	0	1	0	0	1	3	1	3	2	3	2	4	2	3	4	7			TCGA-HC-7077-01A-11D-1961-08	TCGA-HC-7077-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd03be72-06ff-46b7-920e-533ae0988028	c7014407-f794-4174-bf47-38a2745c06b8	g.chr6:35088704G>A	ENST00000512012.1	-	5	853	c.697C>T	c.(697-699)Ctc>Ttc	p.L233F	TCP11_ENST00000373979.2_Missense_Mutation_p.L171F|TCP11_ENST00000412155.2_Missense_Mutation_p.L195F|TCP11_ENST00000418521.2_Missense_Mutation_p.L170F|TCP11_ENST00000444780.2_Missense_Mutation_p.L241F|TCP11_ENST00000373974.4_Missense_Mutation_p.L200F|TCP11_ENST00000311875.5_Missense_Mutation_p.L246F|TCP11_ENST00000244645.3_Missense_Mutation_p.L171F			Q8WWU5	TCP11_HUMAN	t-complex 11, testis-specific	233					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)				breast(1)|kidney(5)|large_intestine(3)|lung(10)|ovary(3)|prostate(1)|skin(4)	27						TTATTGAGGAGTTCCTGGAAT	0.448																																						ENST00000311875.5																			0				breast(1)|kidney(5)|large_intestine(3)|lung(10)|ovary(3)|prostate(1)|skin(4)	27						c.(736-738)Ctc>Ttc		t-complex 11, testis-specific							309	320	316					6																	35088704		2203	4300	6503	SO:0001583	missense	6954				cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane		g.chr6:35088704G>A		CCDS4799.1, CCDS47413.1, CCDS59015.1, CCDS59016.1, CCDS59017.1, CCDS59018.1	6p21.31	2012-09-20	2012-09-20		ENSG00000124678	ENSG00000124678			11658	protein-coding gene	gene with protein product	"fertilization-promoting peptide receptor"	186982	"t-complex 11 (a murine tcp homolog)", "t-complex 11 homolog (mouse)"	D6S230E		1427894, 11756566, 21597245	Standard	NM_001093728		Approved	KIAA0229, FPPR	uc003okd.2	Q8WWU5	OTTHUMG00000014560	ENST00000512012.1:c.697C>T	6.37:g.35088704G>A	ENSP00000425995:p.Leu233Phe					TCP11_ENST00000373974.4_Missense_Mutation_p.L200F|TCP11_ENST00000412155.2_Missense_Mutation_p.L195F|TCP11_ENST00000444780.2_Missense_Mutation_p.L241F|TCP11_ENST00000512012.1_Missense_Mutation_p.L233F|TCP11_ENST00000418521.2_Missense_Mutation_p.L170F|TCP11_ENST00000373979.2_Missense_Mutation_p.L171F|TCP11_ENST00000244645.3_Missense_Mutation_p.L171F	p.L246F			Q8WWU5	TCP11_HUMAN			6	1153	-			233					B2RCE9|B3KQ27|B7Z7B5|B7Z7G1|B7Z7H4|B7Z7S8|E7EP29|J3KNG1|Q8NF85|Q9NQZ9|Q9NR39	Missense_Mutation	SNP	ENST00000512012.1	37	c.736C>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.48|14.48	2.546806|2.546806	0.45383|0.45383	.|.	.|.	ENSG00000124678|ENSG00000124678	ENST00000373979;ENST00000412155;ENST00000244645;ENST00000373977;ENST00000311875;ENST00000444780;ENST00000373974;ENST00000418521;ENST00000512012;ENST00000486638|ENST00000502480	T;T;T;T;T;T;T;T;T|.	0.12774|.	2.65;2.65;2.65;2.65;2.65;2.65;2.65;2.65;2.65|.	4.32|4.32	4.32|4.32	0.51571|0.51571	.|.	1.113020|.	0.06784|.	N|.	0.785838|.	T|T	0.13072|0.13072	0.0317|0.0317	N|N	0.25957|0.25957	0.775|0.775	0.09310|0.09310	N|N	1|1	D;D;D;D;D;B|.	0.67145|.	0.989;0.989;0.989;0.996;0.989;0.065|.	D;D;D;D;D;B|.	0.73380|.	0.954;0.954;0.966;0.98;0.966;0.053|.	T|T	0.09271|0.09271	-1.0682|-1.0682	10|5	0.09590|.	T|.	0.72|.	-14.2322|-14.2322	7.0425|7.0425	0.25029|0.25029	0.0903:0.0:0.7364:0.1732|0.0903:0.0:0.7364:0.1732	.|.	200;195;241;306;233;171|.	B7Z7G1;E7EP29;B7Z7B5;Q5TB88;Q8WWU5;Q8WWU5-2|.	.;.;.;.;TCP11_HUMAN;.|.	F|I	171;195;171;195;246;241;200;170;233;92|40	ENSP00000363091:L171F;ENSP00000402816:L195F;ENSP00000244645:L171F;ENSP00000308708:L246F;ENSP00000404479:L241F;ENSP00000363085:L200F;ENSP00000415320:L170F;ENSP00000425995:L233F;ENSP00000421103:L92F|.	ENSP00000244645:L171F|.	L|T	-|-	1|2	0|0	TCP11|TCP11	35196682|35196682	0.316000|0.316000	0.24580|0.24580	0.195000|0.195000	0.23364|0.23364	0.293000|0.293000	0.27360|0.27360	1.372000|1.372000	0.34261|0.34261	2.401000|2.401000	0.81631|0.81631	0.563000|0.563000	0.77884|0.77884	CTC|ACT		0.448	TCP11-014	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000370354.1	NM_001093728		12	582	0	0	0	0.016723	0	12	582					A	35088704	G	A	35088704	3	1	196	1	0	0	0	0	1	0	0	0	15710	1029	36	3	834	3	TCP11	6	35088704	Missense_Mutation	SNP	G	TCGA-HC-7077-01A-11D-1961-08		35088704	136026363	18	9081											
PNPLA1	285848	broad.mit.edu	37	chr6	36270248	36270248	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggccaagaacagccccaaggTatggacccttctggcttgtt	9	9	11	12	0	1	1	0	0	1	1	1	2	1	2	4	4	2	3	4	4	4	4			TCGA-HC-7077-01A-11D-1961-08	TCGA-HC-7077-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd03be72-06ff-46b7-920e-533ae0988028	c7014407-f794-4174-bf47-38a2745c06b8	g.chr6:36270248T>C	ENST00000394571.2	+	6	1384		c.e6+2		PNPLA1_ENST00000388715.3_Splice_Site|PNPLA1_ENST00000312917.5_Splice_Site	NM_001145717.1	NP_001139189.2	Q8N8W4	PLPL1_HUMAN	patatin-like phospholipase domain containing 1						lipid catabolic process (GO:0016042)	cytoplasm (GO:0005737)	hydrolase activity (GO:0016787)			breast(1)|kidney(1)|large_intestine(4)|lung(9)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	22						AGCCCCAAGGTATGGACCCTT	0.567											OREG0017382	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000394571.2																			0				breast(1)|kidney(1)|large_intestine(4)|lung(9)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	22						c.e6+2		patatin-like phospholipase domain containing 1							99	104	103					6																	36270248		2203	4300	6503	SO:0001630	splice_region_variant	285848				lipid catabolic process		hydrolase activity	g.chr6:36270248T>C		CCDS34438.1, CCDS47416.1, CCDS54997.1	6p21.31	2009-01-12			ENSG00000180316	ENSG00000180316		"Patatin-like phospholipase domain containing"	21246	protein-coding gene	gene with protein product		612121				16799181, 19029121	Standard	NM_001145717		Approved	FLJ38755, dJ50J22.1	uc010jwf.2	Q8N8W4	OTTHUMG00000014590	ENST00000394571.2:c.1384+2T>C	6.37:g.36270248T>C			OREG0017382	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	861	PNPLA1_ENST00000312917.5_Splice_Site|PNPLA1_ENST00000388715.3_Splice_Site		NM_001145717.1	NP_001139189.2	Q8N8W4	PLPL1_HUMAN			6	1384	+								A3RMU3|J3JS20|Q2A6N1|Q3SY95|Q3SY96|Q5R3L2	Splice_Site	SNP	ENST00000394571.2	37		CCDS54997.1	.	.	.	.	.	.	.	.	.	.	T	16.17	3.047855	0.55110	.	.	ENSG00000180316	ENST00000388715;ENST00000312917;ENST00000457797;ENST00000394571	.	.	.	4.35	4.35	0.52113	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.158	0.42833	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	PNPLA1	36378226	1.000000	0.71417	0.794000	0.32065	0.262000	0.26303	3.315000	0.51951	1.960000	0.56953	0.529000	0.55759	.		0.567	PNPLA1-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		NM_173676	Intron	50	137	0	0	0	0.01441	0	50	137					C	36270248	T	C	36270248	5	2	196	1	0	0	0	0	0	0	1	0	12164	1652	57	4	1435	4	PNPLA1	6	36270248	Splice_Site	SNP	T	TCGA-HC-7077-01A-11D-1961-08	1181544	36270248	134844819	19	9082											
IMPG1	3617	broad.mit.edu	37	chr6	76660411	76660411	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggcccttgggggcaatggtCatagaactagtggtgatata	10	10	14	7	1	1	2	1	1	0	1	1	2	1	2	1	5	1	1	1	5	6	5			TCGA-HC-7077-01A-11D-1961-08	TCGA-HC-7077-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd03be72-06ff-46b7-920e-533ae0988028	c7014407-f794-4174-bf47-38a2745c06b8	g.chr6:76660411C>A	ENST00000369950.3	-	13	1881	c.1692G>T	c.(1690-1692)atG>atT	p.M564I	IMPG1_ENST00000369963.3_3'UTR	NM_001282368.1|NM_001563.2	NP_001269297.1|NP_001554.2			interphotoreceptor matrix proteoglycan 1											breast(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(8)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	63		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)				GGGCAATGGTCATAGAACTAG	0.493																																					Pancreas(37;839 1141 2599 26037)	ENST00000369950.3																			0				breast(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(8)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						c.(1690-1692)atG>atT		interphotoreceptor matrix proteoglycan 1							84	76	79					6																	76660411		2203	4300	6503	SO:0001583	missense	3617				visual perception	proteinaceous extracellular matrix	extracellular matrix structural constituent|receptor activity	g.chr6:76660411C>A	AF017776	CCDS4985.1, CCDS75483.1	6q14.2-q15	2008-02-05	2004-05-25		ENSG00000112706	ENSG00000112706			6055	protein-coding gene	gene with protein product		602870	"sialoprotein associated with cones and rods"	SPACR			Standard	NM_001282368		Approved	IPM150, GP147	uc003pik.1	Q17R60	OTTHUMG00000015063	ENST00000369950.3:c.1692G>T	6.37:g.76660411C>A	ENSP00000358966:p.Met564Ile					IMPG1_ENST00000369963.3_3'UTR	p.M564I	NM_001563.2	NP_001554.2	Q17R60	IMPG1_HUMAN			13	1881	-		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)	564						Missense_Mutation	SNP	ENST00000369950.3	37	c.1692G>T	CCDS4985.1	.	.	.	.	.	.	.	.	.	.	C	6.239	0.412201	0.11812	.	.	ENSG00000112706	ENST00000369950	T	0.20069	2.1	5.67	5.67	0.87782	.	0.576672	0.18376	N	0.143112	T	0.11110	0.0271	L	0.47716	1.5	0.80722	D	1	B	0.24533	0.105	B	0.20577	0.03	T	0.02868	-1.1100	10	0.33940	T	0.23	.	14.5894	0.68354	0.1459:0.8541:0.0:0.0	.	564	Q17R60	IMPG1_HUMAN	I	564	ENSP00000358966:M564I	ENSP00000358966:M564I	M	-	3	0	IMPG1	76717131	0.999000	0.42202	0.534000	0.28014	0.087000	0.18053	3.462000	0.53042	2.660000	0.90430	0.650000	0.86243	ATG		0.493	IMPG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041288.1	NM_001563		5	92	1	0	0.00116845	0.021553	0.00168951	5	92					A	76660411	C	A	76660411	3	1	196	1	0	0	0	0	1	0	0	0	7728	826	29	5	721	5	IMPG1	6	76660411	Missense_Mutation	SNP	C	TCGA-HC-7077-01A-11D-1961-08	40390163	76660411	94454656	20	9083											
LMTK2	22853	broad.mit.edu	37	chr7	97822262	97822262	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cagaagaaacgccccgtcggGtacccccagactcactccca	11	4	8	18	3	1	3	1	0	0	3	3	3	2	3	5	1	2	1	5	1	3	1			TCGA-HC-7077-01A-11D-1961-08	TCGA-HC-7077-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd03be72-06ff-46b7-920e-533ae0988028	c7014407-f794-4174-bf47-38a2745c06b8	g.chr7:97822262G>A	ENST00000297293.5	+	11	2778	c.2485G>A	c.(2485-2487)Gta>Ata	p.V829I		NM_014916.3	NP_055731.2	Q8IWU2	LMTK2_HUMAN	lemur tyrosine kinase 2	829					early endosome to late endosome transport (GO:0045022)|endocytic recycling (GO:0032456)|negative regulation of catalytic activity (GO:0043086)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|receptor recycling (GO:0001881)|transferrin transport (GO:0033572)	early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)	ATP binding (GO:0005524)|myosin VI binding (GO:0070853)|protein phosphatase inhibitor activity (GO:0004864)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3)	59	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)					GCCCCGTCGGGTACCCCCAGA	0.557																																						ENST00000297293.5																			0				NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3)	59						c.(2485-2487)Gta>Ata		lemur tyrosine kinase 2							80	83	82					7																	97822262		2203	4300	6503	SO:0001583	missense	22853				early endosome to late endosome transport|endocytic recycling|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation|receptor recycling|transferrin transport	early endosome|Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|recycling endosome	ATP binding|myosin VI binding|protein phosphatase inhibitor activity|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr7:97822262G>A	AB029002	CCDS5654.1	7q22.1	2014-06-12			ENSG00000164715	ENSG00000164715			17880	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 100"	610989				15005709	Standard	NM_014916		Approved	KIAA1079, KPI2, KPI-2, cprk, LMR2, BREK, AATYK2, PPP1R100	uc003upd.2	Q8IWU2	OTTHUMG00000154256	ENST00000297293.5:c.2485G>A	7.37:g.97822262G>A	ENSP00000297293:p.Val829Ile						p.V829I	NM_014916.3	NP_055731.2	Q8IWU2	LMTK2_HUMAN			11	2778	+	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)		829					A4D272|Q75MG7|Q9UPS3	Missense_Mutation	SNP	ENST00000297293.5	37	c.2485G>A	CCDS5654.1	.	.	.	.	.	.	.	.	.	.	G	10.74	1.434753	0.25813	.	.	ENSG00000164715	ENST00000297293	T	0.77620	-1.11	5.77	0.373	0.16178	.	2.036220	0.01799	N	0.032777	T	0.66479	0.2793	L	0.40543	1.245	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.34329	-0.9833	10	0.18276	T	0.48	.	2.6546	0.05008	0.1389:0.1134:0.4133:0.3344	.	829	Q8IWU2	LMTK2_HUMAN	I	829	ENSP00000297293:V829I	ENSP00000297293:V829I	V	+	1	0	LMTK2	97660198	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-0.085000	0.11250	0.125000	0.18397	0.655000	0.94253	GTA		0.557	LMTK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334560.1	NM_014916		42	82	0	0	0	0.009718	0	42	82					A	97822262	G	A	97822262	3	1	196	1	0	0	0	0	1	0	0	0	8859	1261	44	3	2527	3	LMTK2	7	97822262	Missense_Mutation	SNP	G	TCGA-HC-7077-01A-11D-1961-08		97822262	61316401	21	9084											
SHH	6469	broad.mit.edu	37	chr7	155599019	155599019	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccgagcagtggatatgtgccTtggactcgtagtacacccag	9	9	12	11	2	0	0	0	0	0	0	1	3	0	2	3	2	3	3	3	2	3	4			TCGA-HC-7077-01A-11D-1961-08	TCGA-HC-7077-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd03be72-06ff-46b7-920e-533ae0988028	c7014407-f794-4174-bf47-38a2745c06b8	g.chr7:155599019T>C	ENST00000297261.2	-	2	683	c.533A>G	c.(532-534)aAg>aGg	p.K178R	SHH_ENST00000472308.1_5'Flank	NM_000193.2	NP_000184.1	Q15465	SHH_HUMAN	sonic hedgehog	178			Missing (in HPE3). {ECO:0000269|PubMed:15221788, ECO:0000269|PubMed:19603532}.		androgen metabolic process (GO:0008209)|apoptotic signaling pathway (GO:0097190)|artery development (GO:0060840)|axon guidance (GO:0007411)|Bergmann glial cell differentiation (GO:0060020)|blood coagulation (GO:0007596)|branching involved in salivary gland morphogenesis (GO:0060445)|branching involved in ureteric bud morphogenesis (GO:0001658)|branching morphogenesis of an epithelial tube (GO:0048754)|bud outgrowth involved in lung branching (GO:0060447)|camera-type eye development (GO:0043010)|canonical Wnt signaling pathway (GO:0060070)|CD4-positive or CD8-positive, alpha-beta T cell lineage commitment (GO:0043369)|cell development (GO:0048468)|cell fate specification (GO:0001708)|cell-cell signaling (GO:0007267)|cellular response to lithium ion (GO:0071285)|central nervous system development (GO:0007417)|cerebellar granule cell precursor proliferation (GO:0021930)|determination of left/right asymmetry in lateral mesoderm (GO:0003140)|dorsal/ventral neural tube patterning (GO:0021904)|dorsal/ventral pattern formation (GO:0009953)|ectoderm development (GO:0007398)|embryo development (GO:0009790)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic digit morphogenesis (GO:0042733)|embryonic foregut morphogenesis (GO:0048617)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic limb morphogenesis (GO:0030326)|embryonic pattern specification (GO:0009880)|embryonic skeletal system development (GO:0048706)|endocytosis (GO:0006897)|epithelial cell proliferation involved in salivary gland morphogenesis (GO:0060664)|epithelial-mesenchymal signaling involved in prostate gland development (GO:0060738)|establishment of cell polarity (GO:0030010)|forebrain development (GO:0030900)|formation of anatomical boundary (GO:0048859)|hair follicle morphogenesis (GO:0031069)|heart development (GO:0007507)|heart looping (GO:0001947)|hindbrain development (GO:0030902)|hindgut morphogenesis (GO:0007442)|inner ear development (GO:0048839)|intein-mediated protein splicing (GO:0016539)|intermediate filament organization (GO:0045109)|left lung development (GO:0060459)|limb bud formation (GO:0060174)|lung development (GO:0030324)|lung epithelium development (GO:0060428)|lung lobe morphogenesis (GO:0060463)|lung-associated mesenchyme development (GO:0060484)|lymphoid progenitor cell differentiation (GO:0002320)|male genitalia development (GO:0030539)|mesenchymal cell proliferation involved in lung development (GO:0060916)|mesenchymal smoothened signaling pathway involved in prostate gland development (GO:0060783)|metanephric mesenchymal cell proliferation involved in metanephros development (GO:0072136)|metanephros development (GO:0001656)|midbrain development (GO:0030901)|multicellular structure septum development (GO:0080125)|myoblast differentiation (GO:0045445)|myotube differentiation (GO:0014902)|negative regulation of alpha-beta T cell differentiation (GO:0046639)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell differentiation (GO:0045596)|negative regulation of cell migration (GO:0030336)|negative regulation of cholesterol efflux (GO:0090370)|negative regulation of kidney smooth muscle cell differentiation (GO:2000357)|negative regulation of mesenchymal cell apoptotic process (GO:2001054)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|negative regulation of T cell proliferation (GO:0042130)|negative regulation of transcription elongation from RNA polymerase II promoter (GO:0034244)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of ureter smooth muscle cell differentiation (GO:2000062)|negative thymic T cell selection (GO:0045060)|neural crest cell migration (GO:0001755)|neuroblast proliferation (GO:0007405)|neuron fate commitment (GO:0048663)|odontogenesis of dentin-containing tooth (GO:0042475)|oligodendrocyte development (GO:0014003)|organ formation (GO:0048645)|osteoblast development (GO:0002076)|palate development (GO:0060021)|pancreas development (GO:0031016)|pattern specification process (GO:0007389)|patterning of blood vessels (GO:0001569)|polarity specification of anterior/posterior axis (GO:0009949)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation involved in prostate gland development (GO:0060769)|positive regulation of hh target transcription factor activity (GO:0007228)|positive regulation of immature T cell proliferation in thymus (GO:0033092)|positive regulation of kidney smooth muscle cell differentiation (GO:2000358)|positive regulation of mesenchymal cell proliferation involved in ureter development (GO:2000729)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of oligodendrocyte differentiation (GO:0048714)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of sclerotome development (GO:0061189)|positive regulation of skeletal muscle cell proliferation (GO:0014858)|positive regulation of skeletal muscle tissue development (GO:0048643)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of striated muscle cell differentiation (GO:0051155)|positive regulation of T cell differentiation in thymus (GO:0033089)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of ureter smooth muscle cell differentiation (GO:2000063)|positive regulation of Wnt signaling pathway (GO:0030177)|positive thymic T cell selection (GO:0045059)|primary prostatic bud elongation (GO:0060516)|prostate epithelial cord elongation (GO:0060523)|prostate gland development (GO:0030850)|protein localization to nucleus (GO:0034504)|regulation of cell proliferation (GO:0042127)|regulation of mesenchymal cell proliferation involved in prostate gland development (GO:0060782)|regulation of nodal signaling pathway involved in determination of lateral mesoderm left/right asymmetry (GO:1900175)|regulation of odontogenesis (GO:0042481)|regulation of prostatic bud formation (GO:0060685)|regulation of protein localization to nucleus (GO:1900180)|regulation of proteolysis (GO:0030162)|renal system development (GO:0072001)|right lung development (GO:0060458)|salivary gland cavitation (GO:0060662)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation (GO:0021938)|somite development (GO:0061053)|spinal cord dorsal/ventral patterning (GO:0021513)|spinal cord motor neuron differentiation (GO:0021522)|stem cell development (GO:0048864)|striated muscle tissue development (GO:0014706)|T cell differentiation in thymus (GO:0033077)|telencephalon regionalization (GO:0021978)|thalamus development (GO:0021794)|thymus development (GO:0048538)|thyroid gland development (GO:0030878)|trachea morphogenesis (GO:0060439)|vasculogenesis (GO:0001570)|ventral midline development (GO:0007418)	cell surface (GO:0009986)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|glycosaminoglycan binding (GO:0005539)|laminin-1 binding (GO:0043237)|morphogen activity (GO:0016015)|patched binding (GO:0005113)|peptidase activity (GO:0008233)|zinc ion binding (GO:0008270)			central_nervous_system(3)|kidney(1)|large_intestine(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	14	all_neural(206;0.101)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.00882)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GATATGTGCCTTGGACTCGTA	0.632																																						ENST00000297261.2																			0				central_nervous_system(3)|kidney(1)|large_intestine(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	14						c.(532-534)aAg>aGg		sonic hedgehog							72	67	69					7																	155599019		2203	4299	6502	SO:0001583	missense	6469				androgen metabolic process|axon guidance|branching involved in ureteric bud morphogenesis|CD4-positive or CD8-positive, alpha-beta T cell lineage commitment|embryonic digit morphogenesis|hindbrain development|intein-mediated protein splicing|lymphoid progenitor cell differentiation|metanephric mesenchymal cell proliferation involved in metanephros development|midbrain development|negative regulation of cell migration|negative regulation of kidney smooth muscle cell differentiation|negative regulation of ureter smooth muscle cell differentiation|negative thymic T cell selection|neural crest cell migration|neuroblast proliferation|patterning of blood vessels|positive regulation of alpha-beta T cell differentiation|positive regulation of immature T cell proliferation in thymus|positive regulation of kidney smooth muscle cell differentiation|positive regulation of mesenchymal cell proliferation involved in ureter development|positive regulation of T cell differentiation in thymus|positive regulation of ureter smooth muscle cell differentiation|positive thymic T cell selection|proteolysis|sclerotome development|stem cell development|thymus development|vasculogenesis|ventral midline development	cell surface|extracellular space|membrane raft|plasma membrane	calcium ion binding|laminin-1 binding|peptidase activity|signal transducer activity|zinc ion binding	g.chr7:155599019T>C		CCDS5942.1	7q36	2010-06-25	2010-06-25		ENSG00000164690	ENSG00000164690			10848	protein-coding gene	gene with protein product		600725	"sonic hedgehog (Drosophila) homolog", "sonic hedgehog homolog (Drosophila)"	HPE3, HLP3		7590746	Standard	NM_000193		Approved	HHG1, SMMCI, TPT, TPTPS, MCOPCB5	uc003wmk.1	Q15465	OTTHUMG00000151349	ENST00000297261.2:c.533A>G	7.37:g.155599019T>C	ENSP00000297261:p.Lys178Arg						p.K178R	NM_000193.2	NP_000184.1	Q15465	SHH_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00882)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	2	683	-	all_neural(206;0.101)	all_hematologic(28;0.0592)	178		Missing (in HPE3).			A4D247|Q75MC9	Missense_Mutation	SNP	ENST00000297261.2	37	c.533A>G	CCDS5942.1	.	.	.	.	.	.	.	.	.	.	T	13.00	2.105420	0.37145	.	.	ENSG00000164690	ENST00000297261;ENST00000430104	D;D	0.99409	-5.56;-5.85	3.35	3.35	0.38373	Hedgehog/DD-peptidase (2);Hedgehog, N-terminal signaling domain (1);	0.000000	0.85682	D	0.000000	D	0.97545	0.9196	N	0.01656	-0.775	0.54753	D	0.999984	D;P;B	0.64830	0.994;0.481;0.263	D;B;B	0.77004	0.989;0.333;0.08	D	0.94915	0.8068	10	0.12103	T	0.63	.	12.2036	0.54340	0.0:0.0:0.0:1.0	.	178;181;91	Q15465;D9ZGF9;C9JC48	SHH_HUMAN;.;.	R	178;91	ENSP00000297261:K178R;ENSP00000396621:K91R	ENSP00000297261:K178R	K	-	2	0	SHH	155291780	1.000000	0.71417	0.985000	0.45067	0.965000	0.64279	5.903000	0.69877	1.515000	0.48885	0.459000	0.35465	AAG		0.632	SHH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322327.1	NM_000193		17	101	0	0	0	0.008871	0	17	101					C	155599019	T	C	155599019	3	2	196	1	0	0	0	0	1	0	0	0	14279	1609	56	4	863	4	SHH	7	155599019	Missense_Mutation	SNP	T	TCGA-HC-7077-01A-11D-1961-08	57776757	155599019	3539644	22	9085											
DCAF4L2	138009	broad.mit.edu	37	chr8	88885128	88885128	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggaatgtcgttctccgaggCggggtatggggagggtatgg	6	9	21	5	3	1	0	0	0	1	0	3	3	1	2	1	8	0	3	1	8	3	3			TCGA-HC-7077-01A-11D-1961-08	TCGA-HC-7077-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd03be72-06ff-46b7-920e-533ae0988028	c7014407-f794-4174-bf47-38a2745c06b8	g.chr8:88885128C>T	ENST00000319675.3	-	1	1168	c.1072G>A	c.(1072-1074)Gcc>Acc	p.A358T		NM_152418.3	NP_689631.1	Q8NA75	DC4L2_HUMAN	DDB1 and CUL4 associated factor 4-like 2	358										breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	83						TTCTCCGAGGCGGGGTATGGG	0.622																																						ENST00000319675.3																			0				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	83						c.(1072-1074)Gcc>Acc		DDB1 and CUL4 associated factor 4-like 2							74	82	79					8																	88885128		2203	4300	6503	SO:0001583	missense	138009							g.chr8:88885128C>T	AL833507	CCDS6245.1	8q21.3	2013-01-09	2009-07-17	2009-07-17		ENSG00000176566		"WD repeat domain containing"	26657	protein-coding gene	gene with protein product			"WD repeat domain 21C"	WDR21C		14702039	Standard	NM_152418		Approved		uc003ydz.3	Q8NA75		ENST00000319675.3:c.1072G>A	8.37:g.88885128C>T	ENSP00000316496:p.Ala358Thr						p.A358T	NM_152418.3	NP_689631.1	Q8NA75	DC4L2_HUMAN			1	1168	-			358						Missense_Mutation	SNP	ENST00000319675.3	37	c.1072G>A	CCDS6245.1	.	.	.	.	.	.	.	.	.	.	C	7.180	0.589400	0.13812	.	.	ENSG00000176566	ENST00000319675	T	0.23348	1.91	1.37	0.319	0.15873	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.460361	0.24490	N	0.038063	T	0.12050	0.0293	N	0.16656	0.425	0.09310	N	1	B	0.24618	0.107	B	0.18263	0.021	T	0.22626	-1.0211	10	0.27082	T	0.32	.	6.831	0.23911	0.0:0.7048:0.2951:0.0	.	358	Q8NA75	DC4L2_HUMAN	T	358	ENSP00000316496:A358T	ENSP00000316496:A358T	A	-	1	0	DCAF4L2	88954244	0.455000	0.25736	0.001000	0.08648	0.044000	0.14063	0.395000	0.20850	-0.123000	0.11745	0.467000	0.42956	GCC		0.622	DCAF4L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375302.1	NM_152418		35	67	0	0	0	0.015359	0	35	67					T	88885128	C	T	88885128	3	4	196	1	0	0	0	0	1	0	0	0	4272	768	27	1	119	1	DCAF4L2	8	88885128	Missense_Mutation	SNP	C	TCGA-HC-7077-01A-11D-1961-08		88885128	57478894	23	9086											
PKHD1L1	93035	broad.mit.edu	37	chr8	110477192	110477192	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttaaaaatgccaaaatagtcGgccatcttgatgaactggga	15	10	9	7	1	1	2	0	2	1	0	2	3	1	3	2	2	2	0	2	2	7	3			TCGA-HC-7077-01A-11D-1961-08	TCGA-HC-7077-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd03be72-06ff-46b7-920e-533ae0988028	c7014407-f794-4174-bf47-38a2745c06b8	g.chr8:110477192G>A	ENST00000378402.5	+	49	8235	c.8131G>A	c.(8131-8133)Ggc>Agc	p.G2711S		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	2711					immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			CAAAATAGTCGGCCATCTTGA	0.463										HNSCC(38;0.096)																												ENST00000378402.5																			0				NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263						c.(8131-8133)Ggc>Agc		polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1							170	169	170					8																	110477192		1893	4115	6008	SO:0001583	missense	93035				immune response	cytosol|extracellular space|integral to membrane	receptor activity	g.chr8:110477192G>A	AY219181	CCDS47911.1	8q23	2003-03-28			ENSG00000205038	ENSG00000205038			20313	protein-coding gene	gene with protein product		607843				12620974	Standard	NM_177531		Approved		uc003yne.3	Q86WI1	OTTHUMG00000164934	ENST00000378402.5:c.8131G>A	8.37:g.110477192G>A	ENSP00000367655:p.Gly2711Ser	HNSCC(38;0.096)					p.G2711S	NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)		49	8235	+			2711					Q567P2|Q9UF27	Missense_Mutation	SNP	ENST00000378402.5	37	c.8131G>A	CCDS47911.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.037834	0.75617	.	.	ENSG00000205038	ENST00000378402	D	0.93604	-3.25	5.78	5.78	0.91487	.	0.061993	0.64402	D	0.000005	D	0.95124	0.8420	M	0.73598	2.24	0.45822	D	0.998692	D	0.60575	0.988	P	0.53401	0.725	D	0.94480	0.7692	10	0.44086	T	0.13	.	17.4929	0.87709	0.0:0.0:1.0:0.0	.	2711	Q86WI1	PKHL1_HUMAN	S	2711	ENSP00000367655:G2711S	ENSP00000367655:G2711S	G	+	1	0	PKHD1L1	110546368	1.000000	0.71417	0.999000	0.59377	0.623000	0.37688	8.378000	0.90144	2.724000	0.93272	0.655000	0.94253	GGC		0.463	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381017.1	NM_177531		23	169	0	0	0	0.01892	0	23	169					A	110477192	G	A	110477192	3	1	196	1	0	0	0	0	1	0	0	0	11972	1116	39	2	8325	2	PKHD1L1	8	110477192	Missense_Mutation	SNP	G	TCGA-HC-7077-01A-11D-1961-08	21592064	110477192	35886830	24	9087											
PLEC	5339	broad.mit.edu	37	chr8	145003714	145003714	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgagctcggagatgcagcgCtggcagcgagactcttcctg	7	9	14	11	3	1	3	0	1	1	2	3	5	2	3	1	2	4	4	1	2	0	2			TCGA-HC-7077-01A-11D-1961-08	TCGA-HC-7077-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd03be72-06ff-46b7-920e-533ae0988028	c7014407-f794-4174-bf47-38a2745c06b8	g.chr8:145003714C>A	ENST00000322810.4	-	24	3529	c.3360G>T	c.(3358-3360)caG>caT	p.Q1120H	PLEC_ENST00000354958.2_Missense_Mutation_p.Q961H|PLEC_ENST00000398774.2_Missense_Mutation_p.Q951H|PLEC_ENST00000436759.2_Missense_Mutation_p.Q1010H|PLEC_ENST00000356346.3_Missense_Mutation_p.Q969H|PLEC_ENST00000345136.3_Missense_Mutation_p.Q983H|PLEC_ENST00000527096.1_Missense_Mutation_p.Q1006H|PLEC_ENST00000357649.2_Missense_Mutation_p.Q987H|PLEC_ENST00000354589.3_Missense_Mutation_p.Q983H	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	1120	Globular 1.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						AGATGCAGCGCTGGCAGCGAG	0.682																																						ENST00000322810.4																			0				NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						c.(3358-3360)caG>caT		plectin							30	38	35					8																	145003714		2146	4247	6393	SO:0001583	missense	5339				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle	g.chr8:145003714C>A	U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"plectin 1, intermediate filament binding protein, 500kD", "epidermolysis bullosa simplex 1 (Ogna)", "plectin 1, intermediate filament binding protein 500kDa"	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.3360G>T	8.37:g.145003714C>A	ENSP00000323856:p.Gln1120His					PLEC_ENST00000436759.2_Missense_Mutation_p.Q1010H|PLEC_ENST00000356346.3_Missense_Mutation_p.Q969H|PLEC_ENST00000357649.2_Missense_Mutation_p.Q987H|PLEC_ENST00000527096.1_Missense_Mutation_p.Q1006H|PLEC_ENST00000354958.2_Missense_Mutation_p.Q961H|PLEC_ENST00000345136.3_Missense_Mutation_p.Q983H|PLEC_ENST00000398774.2_Missense_Mutation_p.Q951H|PLEC_ENST00000354589.3_Missense_Mutation_p.Q983H	p.Q1120H	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN			24	3529	-			1120			Globular 1.		Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Missense_Mutation	SNP	ENST00000322810.4	37	c.3360G>T	CCDS43772.1	.	.	.	.	.	.	.	.	.	.	C	4.596	0.110670	0.08780	.	.	ENSG00000178209	ENST00000345136;ENST00000357649;ENST00000354589;ENST00000398774;ENST00000322810;ENST00000354958;ENST00000356346;ENST00000436759;ENST00000527096	T;T;T;T;T;T;T;T;T	0.78126	-1.12;-1.11;-1.15;-1.15;-1.14;-1.12;-1.11;-1.11;-1.11	4.95	4.06	0.47325	.	0.206055	0.30269	U	0.010010	T	0.68100	0.2964	L	0.29908	0.895	0.37803	D	0.927777	B;B;B;B;B;B;B;B	0.09022	0.002;0.002;0.002;0.001;0.002;0.002;0.002;0.002	B;B;B;B;B;B;B;B	0.08055	0.003;0.003;0.003;0.001;0.003;0.003;0.003;0.003	T	0.67102	-0.5755	10	0.62326	D	0.03	.	14.2082	0.65748	0.1513:0.8487:0.0:0.0	.	1010;969;961;1120;951;983;987;983	Q15149-2;Q15149-9;Q15149-8;Q15149;Q15149-7;Q15149-5;Q15149-6;Q15149-4	.;.;.;PLEC_HUMAN;.;.;.;.	H	983;987;983;951;1120;961;969;1010;1006	ENSP00000344848:Q983H;ENSP00000350277:Q987H;ENSP00000346602:Q983H;ENSP00000381756:Q951H;ENSP00000323856:Q1120H;ENSP00000347044:Q961H;ENSP00000348702:Q969H;ENSP00000388180:Q1010H;ENSP00000434583:Q1006H	ENSP00000323856:Q1120H	Q	-	3	2	PLEC	145075702	1.000000	0.71417	1.000000	0.80357	0.005000	0.04900	2.395000	0.44459	1.047000	0.40274	-0.573000	0.04149	CAG		0.682	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	NM_000445		9	55	1	0	6.40141e-05	0.010729	9.38289e-05	9	55					A	145003714	C	A	145003714	3	1	196	1	0	0	0	0	1	0	0	0	12052	796	28	5	10730	5	PLEC	8	145003714	Missense_Mutation	SNP	C	TCGA-HC-7077-01A-11D-1961-08	34526522	145003714	1360308	25	9088											
TRPM3	80036	broad.mit.edu	37	chr9	73152085	73152085	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaaggtgttcccttcctggCtgttgaagctgctctgacgg	5	13	13	10	1	1	3	0	3	1	0	3	3	3	3	2	3	2	5	2	3	2	3			TCGA-HC-7077-01A-11D-1961-08	TCGA-HC-7077-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd03be72-06ff-46b7-920e-533ae0988028	c7014407-f794-4174-bf47-38a2745c06b8	g.chr9:73152085C>T	ENST00000377111.2	-	25	4151	c.3908G>A	c.(3907-3909)aGc>aAc	p.S1303N	TRPM3_ENST00000377106.1_Missense_Mutation_p.S1175N|TRPM3_ENST00000358082.3_Missense_Mutation_p.S1165N|TRPM3_ENST00000377110.3_Missense_Mutation_p.S1303N|TRPM3_ENST00000396280.5_Missense_Mutation_p.S1152N|TRPM3_ENST00000357533.2_Missense_Mutation_p.S1307N|TRPM3_ENST00000396285.1_Missense_Mutation_p.S1162N|TRPM3_ENST00000423814.3_Missense_Mutation_p.S1330N|TRPM3_ENST00000408909.2_Missense_Mutation_p.S1162N|TRPM3_ENST00000360823.2_Missense_Mutation_p.S1165N|TRPM3_ENST00000396292.4_Missense_Mutation_p.S1175N|TRPM3_ENST00000377105.1_Missense_Mutation_p.S1162N	NM_001007471.2	NP_001007472.2	Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel, subfamily M, member 3	1328					calcium ion transmembrane transport (GO:0070588)|cation transport (GO:0006812)|detection of temperature stimulus (GO:0016048)|ion transmembrane transport (GO:0034220)|sensory perception of temperature stimulus (GO:0050951)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)			NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						CCCTTCCTGGCTGTTGAAGCT	0.572																																						ENST00000377110.2																			0				NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						c.(3907-3909)aGc>aAc		transient receptor potential cation channel, subfamily M, member 3							137	126	129					9																	73152085		2203	4300	6503	SO:0001583	missense	80036					integral to membrane	calcium channel activity	g.chr9:73152085C>T	AB046836	CCDS6634.1, CCDS6635.1, CCDS6636.1, CCDS6637.1, CCDS43835.1, CCDS65064.1	9q21.11	2011-12-14			ENSG00000083067	ENSG00000083067		"Voltage-gated ion channels / Transient receptor potential cation channels"	17992	protein-coding gene	gene with protein product	"melastatin 2"	608961				16382100	Standard	NM_206946		Approved	KIAA1616, LTRPC3, GON-2	uc004aid.3	Q9HCF6	OTTHUMG00000019997	ENST00000377111.2:c.3908G>A	9.37:g.73152085C>T	ENSP00000366315:p.Ser1303Asn					TRPM3_ENST00000358082.3_Missense_Mutation_p.S1165N|TRPM3_ENST00000357533.2_Missense_Mutation_p.S1307N|TRPM3_ENST00000423814.3_Missense_Mutation_p.S1330N|TRPM3_ENST00000377105.1_Missense_Mutation_p.S1162N|TRPM3_ENST00000408909.2_Missense_Mutation_p.S1162N|TRPM3_ENST00000377106.1_Missense_Mutation_p.S1175N|TRPM3_ENST00000396280.5_Missense_Mutation_p.S1152N|TRPM3_ENST00000377111.2_Missense_Mutation_p.S1303N|TRPM3_ENST00000396285.1_Missense_Mutation_p.S1162N|TRPM3_ENST00000360823.2_Missense_Mutation_p.S1165N|TRPM3_ENST00000396292.4_Missense_Mutation_p.S1175N	p.S1303N	NM_001007471.2	NP_001007472.2	Q9HCF6	TRPM3_HUMAN			25	4151	-			1328					A2A3F6|A9Z1Y7|Q5VW02|Q5VW03|Q5VW04|Q5W5T7|Q86SH0|Q86SH6|Q86UL0|Q86WK1|Q86WK2|Q86WK3|Q86WK4|Q86YZ9|Q86Z00|Q86Z01|Q9H0X2	Missense_Mutation	SNP	ENST00000377111.2	37	c.3908G>A		.	.	.	.	.	.	.	.	.	.	C	18.51	3.639643	0.67244	.	.	ENSG00000083067	ENST00000377111;ENST00000377110;ENST00000377106;ENST00000360823;ENST00000377105;ENST00000357533;ENST00000408909;ENST00000396285;ENST00000396292;ENST00000358082;ENST00000423814	T;T;T;T;T;T;T;T;T;T;T	0.63580	0.22;0.08;-0.01;-0.03;-0.05;0.05;-0.05;-0.02;-0.01;-0.03;0.08	6.17	6.17	0.99709	.	0.040432	0.85682	N	0.000000	T	0.78855	0.4349	M	0.75447	2.3	0.58432	D	0.999991	D;P;D;D;P;P;P;P	0.63046	0.967;0.893;0.984;0.992;0.893;0.956;0.894;0.948	P;B;D;P;B;P;P;P	0.63793	0.765;0.44;0.918;0.811;0.445;0.72;0.583;0.576	T	0.73591	-0.3934	10	0.32370	T	0.25	-25.8318	20.8794	0.99867	0.0:1.0:0.0:0.0	.	1303;1303;1293;1307;1165;1162;1275;1162	Q9HCF6-2;Q9HCF6-10;Q9HCF6-4;A2A3F7;A2A3F4;G5E9G1;Q9HCF6-8;A2A3F3	.;.;.;.;.;.;.;.	N	1303;1303;1175;1165;1162;1307;1162;1162;1175;1165;1330	ENSP00000366315:S1303N;ENSP00000366314:S1303N;ENSP00000366310:S1175N;ENSP00000354066:S1165N;ENSP00000366309:S1162N;ENSP00000350140:S1307N;ENSP00000386127:S1162N;ENSP00000379581:S1162N;ENSP00000379587:S1175N;ENSP00000350791:S1165N;ENSP00000389542:S1330N	ENSP00000350140:S1307N	S	-	2	0	TRPM3	72341905	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.487000	0.81328	2.941000	0.99782	0.655000	0.94253	AGC		0.572	TRPM3-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000214157.5	NM_206945		14	167	0	0	0	0.020292	0	14	167					T	73152085	C	T	73152085	3	4	196	1	0	0	0	0	1	0	0	0	16584	797	28	3	1219	3	TRPM3	9	73152085	Missense_Mutation	SNP	C	TCGA-HC-7077-01A-11D-1961-08		73152085	68061346	26	9089											
TGFBR1	7046	broad.mit.edu	37	chr9	101904860	101904860	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggttggtgtcagattatcAtgagcatggatccctttttg	7	16	11	7	0	2	2	2	1	0	1	3	3	3	3	1	3	1	2	1	3	1	4			TCGA-HC-7077-01A-11D-1961-08	TCGA-HC-7077-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd03be72-06ff-46b7-920e-533ae0988028	c7014407-f794-4174-bf47-38a2745c06b8	g.chr9:101904860A>G	ENST00000374994.4	+	5	965	c.848A>G	c.(847-849)cAt>cGt	p.H283R	TGFBR1_ENST00000552516.1_Missense_Mutation_p.H287R|TGFBR1_ENST00000550253.1_Missense_Mutation_p.H214R|TGFBR1_ENST00000374990.2_Missense_Mutation_p.H206R	NM_004612.2	NP_004603.1	P36897	TGFR1_HUMAN	transforming growth factor, beta receptor 1	283	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPKK activity (GO:0000186)|angiogenesis (GO:0001525)|anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|artery morphogenesis (GO:0048844)|blastocyst development (GO:0001824)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cellular response to transforming growth factor beta stimulus (GO:0071560)|collagen fibril organization (GO:0030199)|embryonic cranial skeleton morphogenesis (GO:0048701)|endothelial cell migration (GO:0043542)|epithelial to mesenchymal transition (GO:0001837)|extracellular structure organization (GO:0043062)|germ cell migration (GO:0008354)|heart development (GO:0007507)|in utero embryonic development (GO:0001701)|kidney development (GO:0001822)|lens development in camera-type eye (GO:0002088)|mesenchymal cell differentiation (GO:0048762)|negative regulation of apoptotic process (GO:0043066)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron fate commitment (GO:0048663)|palate development (GO:0060021)|parathyroid gland development (GO:0060017)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|pharyngeal system development (GO:0060037)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell growth (GO:0030307)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cellular component movement (GO:0051272)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of transcription, DNA-templated (GO:0045893)|post-embryonic development (GO:0009791)|protein phosphorylation (GO:0006468)|regulation of protein binding (GO:0043393)|regulation of protein ubiquitination (GO:0031396)|regulation of transcription, DNA-templated (GO:0006355)|response to cholesterol (GO:0070723)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)|skeletal system morphogenesis (GO:0048705)|thymus development (GO:0048538)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	endosome (GO:0005768)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|tight junction (GO:0005923)|transforming growth factor beta receptor homodimeric complex (GO:0070022)	ATP binding (GO:0005524)|I-SMAD binding (GO:0070411)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|SMAD binding (GO:0046332)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta receptor activity, type I (GO:0005025)|transforming growth factor beta-activated receptor activity (GO:0005024)|type II transforming growth factor beta receptor binding (GO:0005114)			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	27		Acute lymphoblastic leukemia(62;0.0559)				TCAGATTATCATGAGCATGGA	0.413																																						ENST00000374994.4																			0				endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	27						c.(847-849)cAt>cGt		transforming growth factor, beta receptor 1							203	174	184					9																	101904860		2203	4300	6503	SO:0001583	missense	7046				activation of MAPKK activity|anterior/posterior pattern formation|artery morphogenesis|collagen fibril organization|embryonic cranial skeleton morphogenesis|germ cell migration|heart development|kidney development|neuron fate commitment|palate development|parathyroid gland development|pathway-restricted SMAD protein phosphorylation|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|pharyngeal system development|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of cellular component movement|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of SMAD protein import into nucleus|positive regulation of survival gene product expression|positive regulation of transcription, DNA-dependent|response to cholesterol|thymus development|transforming growth factor beta receptor signaling pathway		ATP binding|I-SMAD binding|metal ion binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type I|type II transforming growth factor beta receptor binding	g.chr9:101904860A>G		CCDS6738.1, CCDS47998.1	9q22	2014-01-30	2008-07-31		ENSG00000106799	ENSG00000106799			11772	protein-coding gene	gene with protein product	"activin A receptor type II-like kinase, 53kDa"	190181	"transforming growth factor, beta receptor I (activin A receptor type II-like kinase, 53kD)", "multiple self-healing squamous epithelioma"	MSSE, ESS1		1319842, 8530052, 21358634	Standard	NM_001130916		Approved	ALK-5, ACVRLK4	uc004azc.3	P36897	OTTHUMG00000020353	ENST00000374994.4:c.848A>G	9.37:g.101904860A>G	ENSP00000364133:p.His283Arg					TGFBR1_ENST00000552516.1_Missense_Mutation_p.H287R|TGFBR1_ENST00000550253.1_Missense_Mutation_p.H214R|TGFBR1_ENST00000374990.2_Missense_Mutation_p.H206R	p.H283R	NM_004612.2	NP_004603.1	P36897	TGFR1_HUMAN			5	965	+		Acute lymphoblastic leukemia(62;0.0559)	283			Protein kinase.		Q6IR47|Q706C0|Q706C1	Missense_Mutation	SNP	ENST00000374994.4	37	c.848A>G	CCDS6738.1	.	.	.	.	.	.	.	.	.	.	A	25.6	4.649782	0.87958	.	.	ENSG00000106799	ENST00000374994;ENST00000540092;ENST00000374990;ENST00000552516;ENST00000550253	D;D;D;D	0.93247	-3.19;-3.19;-3.19;-3.19	5.87	5.87	0.94306	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.97136	0.9064	M	0.89214	3.015	0.80722	D	1	D;D	0.89917	0.996;1.0	D;D	0.91635	0.939;0.999	D	0.97808	1.0249	10	0.87932	D	0	.	15.5573	0.76208	1.0:0.0:0.0:0.0	.	206;283	P36897-3;P36897	.;TGFR1_HUMAN	R	283;283;206;287;214	ENSP00000364133:H283R;ENSP00000364129:H206R;ENSP00000447297:H287R;ENSP00000450052:H214R	ENSP00000364129:H206R	H	+	2	0	TGFBR1	100944681	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.232000	0.95325	2.371000	0.80710	0.533000	0.62120	CAT		0.413	TGFBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053390.3			16	122	0	0	0	0.00499	0	16	122					G	101904860	A	G	101904860	3	3	196	1	0	0	0	0	1	0	0	0	15818	217	8	4	866	4	TGFBR1	9	101904860	Missense_Mutation	SNP	A	TCGA-HC-7077-01A-11D-1961-08	28752775	101904860	39308571	27	9090											
LARP4B	23185	broad.mit.edu	37	chr10	888969	888969	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcacatactggtcactatcCatctgtgatataagatacat	13	12	7	9	0	2	2	1	1	1	1	3	2	3	2	1	2	2	1	1	2	5	5			TCGA-HC-7077-01A-11D-1961-08	TCGA-HC-7077-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd03be72-06ff-46b7-920e-533ae0988028	c7014407-f794-4174-bf47-38a2745c06b8	g.chr10:888969C>A	ENST00000316157.3	-	6	589	c.549G>T	c.(547-549)atG>atT	p.M183I		NM_015155.1	NP_055970.1	Q92615	LAR4B_HUMAN	La ribonucleoprotein domain family, member 4B	183	HTH La-type RNA-binding. {ECO:0000255|PROSITE-ProRule:PRU00332}.				positive regulation of translation (GO:0045727)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleolus (GO:0005730)|polysomal ribosome (GO:0042788)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(2)|skin(2)|urinary_tract(2)	38						GGTCACTATCCATCTGTGATA	0.403																																						ENST00000316157.3																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(2)|skin(2)|urinary_tract(2)	38						c.(547-549)atG>atT		La ribonucleoprotein domain family, member 4B							144	130	135					10																	888969		2203	4300	6503	SO:0001583	missense	23185						nucleotide binding|RNA binding	g.chr10:888969C>A	D86971	CCDS31131.1	10p15.3	2011-08-24	2009-06-09	2009-06-09	ENSG00000107929	ENSG00000107929		"La ribonucleoprotein domain containing"	28987	protein-coding gene	gene with protein product			"KIAA0217", "La ribonucleoprotein domain family, member 5"	KIAA0217, LARP5		9039502, 20573744	Standard	NM_015155		Approved		uc031ptb.1	Q92615	OTTHUMG00000017534	ENST00000316157.3:c.549G>T	10.37:g.888969C>A	ENSP00000326128:p.Met183Ile						p.M183I	NM_015155.1	NP_055970.1	Q92615	LAR4B_HUMAN			6	589	-			183			HTH La-type RNA-binding.		A7MD20|Q5T3R3|Q5T3R4|Q5T3R5|Q68CY4	Missense_Mutation	SNP	ENST00000316157.3	37	c.549G>T	CCDS31131.1	.	.	.	.	.	.	.	.	.	.	C	28.3	4.904436	0.92035	.	.	ENSG00000107929	ENST00000316157	T	0.43294	0.95	5.37	5.37	0.77165	Winged helix-turn-helix transcription repressor DNA-binding (1);RNA-binding protein Lupus La (3);	0.035422	0.85682	D	0.000000	T	0.60907	0.2305	M	0.69823	2.125	0.80722	D	1	P	0.51791	0.948	P	0.56278	0.795	T	0.63111	-0.6710	10	0.56958	D	0.05	-19.8453	19.1173	0.93346	0.0:1.0:0.0:0.0	.	183	Q92615	LAR4B_HUMAN	I	183	ENSP00000326128:M183I	ENSP00000326128:M183I	M	-	3	0	LARP4B	878969	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	7.711000	0.84669	2.521000	0.84997	0.467000	0.42956	ATG		0.403	LARP4B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046395.2	NM_015155		9	30	1	0	0.00448238	0.004482	0.00639486	9	30					A	888969	C	A	888969	3	1	196	1	0	0	0	0	1	0	0	0	8631	594	21	5	1715	5	LARP4B	10	888969	Missense_Mutation	SNP	C	TCGA-HC-7077-01A-11D-1961-08		888969	134645778	28	9091											
CDHR1	92211	broad.mit.edu	37	chr10	85972941	85972941	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttcgacatcaattcccacaCgggggagatctggctcaaga	11	8	11	11	2	3	2	2	0	1	2	5	4	4	2	1	3	0	2	1	3	2	2	rs34744664|rs143024855		TCGA-HC-7077-01A-11D-1961-08	TCGA-HC-7077-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd03be72-06ff-46b7-920e-533ae0988028	c7014407-f794-4174-bf47-38a2745c06b8	g.chr10:85972941C>T	ENST00000372117.3	+	16	1980	c.1877C>T	c.(1876-1878)aCg>aTg	p.T626M	CDHR1_ENST00000440770.2_Missense_Mutation_p.T330M|CDHR1_ENST00000332904.3_Missense_Mutation_p.T626M	NM_033100.2	NP_149091.1	Q96JP9	CDHR1_HUMAN	cadherin-related family member 1	626	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cellular process (GO:0009987)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)	integral component of plasma membrane (GO:0005887)|photoreceptor outer segment membrane (GO:0042622)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(21)|ovary(1)|prostate(1)|skin(1)	36						AATTCCCACACGGGGGAGATC	0.572																																						ENST00000372117.3																			0				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(21)|ovary(1)|prostate(1)|skin(1)	36						c.(1876-1878)aCg>aTg		cadherin-related family member 1							117	105	109					10																	85972941		2203	4300	6503	SO:0001583	missense	92211				homophilic cell adhesion		calcium ion binding|receptor activity	g.chr10:85972941C>T	AB053448	CCDS7372.1, CCDS53548.1	10q23.1	2014-01-28	2010-01-25	2010-01-25	ENSG00000148600	ENSG00000148600		"Cadherins / Cadherin-related"	14550	protein-coding gene	gene with protein product		609502	"protocadherin 21"	PCDH21		11597768	Standard	NM_001171971		Approved	KIAA1775, CORD15, RP65	uc001kcv.3	Q96JP9	OTTHUMG00000018634	ENST00000372117.3:c.1877C>T	10.37:g.85972941C>T	ENSP00000361189:p.Thr626Met					CDHR1_ENST00000440770.2_Missense_Mutation_p.T330M|CDHR1_ENST00000332904.3_Missense_Mutation_p.T626M	p.T626M	NM_033100.2	NP_149091.1	Q96JP9	CDHR1_HUMAN			16	1980	+			626			Cadherin 6.		Q69YZ8|Q8IXY5	Missense_Mutation	SNP	ENST00000372117.3	37	c.1877C>T	CCDS7372.1	.	.	.	.	.	.	.	.	.	.	C	24.8	4.570809	0.86542	.	.	ENSG00000148600	ENST00000332904;ENST00000372117;ENST00000440770	T;T;T	0.58060	0.36;0.36;0.36	5.93	5.93	0.95920	Cadherin (4);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.79992	0.4542	M	0.92367	3.3	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.995;0.994	D	0.84029	0.0358	10	0.87932	D	0	-19.5121	17.8347	0.88692	0.0:1.0:0.0:0.0	.	330;626;626	E7EN47;Q96JP9-2;Q96JP9	.;.;CDHR1_HUMAN	M	626;626;330	ENSP00000331063:T626M;ENSP00000361189:T626M;ENSP00000415980:T330M	ENSP00000331063:T626M	T	+	2	0	CDHR1	85962921	1.000000	0.71417	0.944000	0.38274	0.650000	0.38633	7.372000	0.79612	2.814000	0.96858	0.655000	0.94253	ACG		0.572	CDHR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049111.1	NM_033100		10	99	0	0	0	0.006214	0	10	99					T	85972941	C	T	85972941	3	4	196	1	0	0	0	0	1	0	0	0	3118	536	19	1	1939	1	CDHR1	10	85972941	Missense_Mutation	SNP	C	TCGA-HC-7077-01A-11D-1961-08	85083972	85972941	49561806	29	9092											
HECTD2	143279	broad.mit.edu	37	chr10	93253266	93253266	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aattccgattggttggaattGtatcctttaaactttccact	10	17	6	8	1	0	0	0	0	0	0	3	2	3	1	3	2	1	2	3	2	5	8			TCGA-HC-7077-01A-11D-1961-08	TCGA-HC-7077-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd03be72-06ff-46b7-920e-533ae0988028	c7014407-f794-4174-bf47-38a2745c06b8	g.chr10:93253266G>A	ENST00000298068.5	+	14	1615		c.e14+1		HECTD2_ENST00000446394.1_Splice_Site|HECTD2_ENST00000536715.1_Splice_Site|HECTD2_ENST00000371667.1_Splice_Site	NM_182765.3	NP_877497	Q5U5R9	HECD2_HUMAN	HECT domain containing E3 ubiquitin protein ligase 2						protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			breast(2)|endometrium(2)|kidney(4)|large_intestine(10)|lung(7)|skin(1)|urinary_tract(1)	27						GGTTGGAATTGTATCCTTTAA	0.308																																					NSCLC(12;376 469 1699 39910 41417)	ENST00000446394.1																			0				breast(2)|endometrium(2)|kidney(4)|large_intestine(10)|lung(7)|skin(1)|urinary_tract(1)	27						c.e15+1		HECT domain containing E3 ubiquitin protein ligase 2							95	87	90					10																	93253266		2203	4296	6499	SO:0001630	splice_region_variant	143279				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	ubiquitin-protein ligase activity	g.chr10:93253266G>A	AK094625	CCDS7414.1, CCDS7415.1, CCDS60591.1	10q23.32	2013-09-20	2012-02-23		ENSG00000165338	ENSG00000165338			26736	protein-coding gene	gene with protein product			"HECT domain containing 2"			8619474, 9110174	Standard	NM_001284274		Approved	FLJ37306	uc001khl.2	Q5U5R9	OTTHUMG00000018742	ENST00000298068.5:c.1521+1G>A	10.37:g.93253266G>A						HECTD2_ENST00000298068.5_Splice_Site|HECTD2_ENST00000371667.1_Splice_Site|HECTD2_ENST00000536715.1_Splice_Site				Q5U5R9	HECD2_HUMAN			15	1633	+								Q5VZ97|Q5VZ98|Q5VZ99|Q8N1X7|Q8TCP5	Splice_Site	SNP	ENST00000298068.5	37		CCDS7414.1	.	.	.	.	.	.	.	.	.	.	G	25.5	4.640659	0.87859	.	.	ENSG00000165338	ENST00000446394;ENST00000298068;ENST00000536715;ENST00000371667	.	.	.	5.76	5.76	0.90799	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.3431	0.98773	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	HECTD2	93243246	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.163000	0.94750	2.880000	0.98712	0.650000	0.86243	.		0.308	HECTD2-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098620.1		Intron	15	30	0	0	0	0.028581	0	15	30					A	93253266	G	A	93253266	5	1	196	1	0	0	0	0	0	0	1	0	7040	1391	48	3	1600	3	HECTD2	10	93253266	Splice_Site	SNP	G	TCGA-HC-7077-01A-11D-1961-08	7280325	93253266	42281481	30	9093											
C10orf119	79892	broad.mit.edu	37	chr10	121616907	121616907	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caatagaaagtctgtctttcCaaagtggtatttcgtggaga	12	13	10	6	1	2	2	0	0	2	2	4	3	3	2	1	2	0	1	1	2	5	4			TCGA-HC-7077-01A-11D-1961-08	TCGA-HC-7077-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd03be72-06ff-46b7-920e-533ae0988028	c7014407-f794-4174-bf47-38a2745c06b8	g.chr10:121616907C>T	ENST00000360003.3	-	5	541	c.372G>A	c.(370-372)ttG>ttA	p.L124L	MCMBP_ENST00000369077.3_Silent_p.L124L|MCMBP_ENST00000466047.1_5'UTR	NM_001256378.1|NM_001256379.1|NM_024834.3	NP_001243307.1|NP_001243308.1|NP_079110.1	Q9BTE3	MCMBP_HUMAN	minichromosome maintenance complex binding protein	124					DNA-dependent DNA replication (GO:0006261)|mitotic nuclear division (GO:0007067)|sister chromatid cohesion (GO:0007062)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	chromatin binding (GO:0003682)			breast(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(2)|skin(2)	21						TCTGTCTTTCCAAAGTGGTAT	0.328																																						ENST00000360003.3																			0				breast(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(2)|skin(2)	21						c.(370-372)ttG>ttA		minichromosome maintenance complex binding protein							110	111	111					10																	121616907		2203	4300	6503	SO:0001819	synonymous_variant	79892				cell division|DNA-dependent DNA replication|mitosis|S phase of mitotic cell cycle|sister chromatid cohesion	nucleus	chromatin binding	g.chr10:121616907C>T	BC007219	CCDS7617.1, CCDS58099.1	10q26.13	2013-10-11	2011-01-05	2011-01-05	ENSG00000197771	ENSG00000197771			25782	protein-coding gene	gene with protein product		610909	"chromosome 10 open reading frame 119"	C10orf119		17296731	Standard	NM_024834		Approved	FLJ13081, MCM-BP	uc001ler.3	Q9BTE3	OTTHUMG00000019159	ENST00000360003.3:c.372G>A	10.37:g.121616907C>T						MCMBP_ENST00000369077.3_Silent_p.L124L|MCMBP_ENST00000466047.1_5'UTR	p.L124L	NM_001256378.1|NM_001256379.1|NM_024834.3	NP_001243307.1|NP_001243308.1|NP_079110.1	Q9BTE3	MCMBP_HUMAN			5	541	-			124					B3KSP7|Q6IA56|Q9BVT9|Q9H916	Silent	SNP	ENST00000360003.3	37	c.372G>A	CCDS7617.1																																																																																				0.328	MCMBP-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000050684.1	NM_024834		6	56	0	0	0	0.00308	0	6	56					T	121616907	C	T	121616907	2	4	196	1	0	0	0	0	0	0	0	1	1588	593	21	3		3	C10orf119	10	121616907	Silent	SNP	C	TCGA-HC-7077-01A-11D-1961-08	28363641	121616907	13917840	31	9094											
LRRC56	115399	broad.mit.edu	37	chr11	551945	551945	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaaccccaccaagggcctgcGggagcgtaggcaccagtgcc	9	3	14	15	2	0	0	0	0	0	0	0	2	0	1	6	3	4	2	6	3	3	1	rs558302518		TCGA-HC-7077-01A-11D-1961-08	TCGA-HC-7077-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd03be72-06ff-46b7-920e-533ae0988028	c7014407-f794-4174-bf47-38a2745c06b8	g.chr11:551945G>A	ENST00000270115.7	+	11	1516	c.1016G>A	c.(1015-1017)cGg>cAg	p.R339Q		NM_198075.3	NP_932341.1	Q8IYG6	LRC56_HUMAN	leucine rich repeat containing 56	339										kidney(1)|lung(4)|skin(1)	6		all_cancers(49;2.16e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		AAGGGCCTGCGGGAGCGTAGG	0.687													G|||	1	0.000199681	0	0	5008	,	,		16436	0		0	False		,,,				2504	0.001					ENST00000270115.7																			0				kidney(1)|lung(4)|skin(1)	6						c.(1015-1017)cGg>cAg		leucine rich repeat containing 56							35	41	39					11																	551945		2200	4298	6498	SO:0001583	missense	115399							g.chr11:551945G>A		CCDS7700.1	11p15.5	2005-10-18			ENSG00000161328	ENSG00000161328			25430	protein-coding gene	gene with protein product						12477932	Standard	NM_198075		Approved	FLJ00101, DKFZp761L1518	uc010qvz.2	Q8IYG6	OTTHUMG00000132003	ENST00000270115.7:c.1016G>A	11.37:g.551945G>A	ENSP00000270115:p.Arg339Gln						p.R339Q	NM_198075.3	NP_932341.1	Q8IYG6	LRC56_HUMAN		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)	11	1516	+		all_cancers(49;2.16e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)	339					Q8N3Q4	Missense_Mutation	SNP	ENST00000270115.7	37	c.1016G>A	CCDS7700.1	.	.	.	.	.	.	.	.	.	.	G	13.85	2.359698	0.41801	.	.	ENSG00000161328	ENST00000270115	T	0.09630	2.96	4.26	2.2	0.27929	.	0.435095	0.19257	N	0.118771	T	0.05410	0.0143	L	0.29908	0.895	0.09310	N	1	P	0.40834	0.73	B	0.22601	0.04	T	0.36672	-0.9738	10	0.46703	T	0.11	-31.2462	7.6293	0.28230	0.2355:0.0:0.7645:0.0	.	339	Q8IYG6	LRC56_HUMAN	Q	339	ENSP00000270115:R339Q	ENSP00000270115:R339Q	R	+	2	0	LRRC56	541945	0.378000	0.25114	0.053000	0.19242	0.950000	0.60333	0.997000	0.29731	1.028000	0.39785	0.561000	0.74099	CGG		0.687	LRRC56-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254969.1	NM_198075		5	35	0	0	0	0.014758	0	5	35					A	551945	G	A	551945	3	1	196	1	0	0	0	0	1	0	0	0	9012	1116	39	2	1046	2	LRRC56	11	551945	Missense_Mutation	SNP	G	TCGA-HC-7077-01A-11D-1961-08		551945	134454571	32	9095											
KCNQ1	3784	broad.mit.edu	37	chr11	2549250	2549250	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggggactctcttctggatggTacgtagcatctgagggcatg	7	11	15	8	1	3	1	0	1	3	0	4	3	3	3	0	5	2	4	0	5	2	3			TCGA-HC-7077-01A-11D-1961-08	TCGA-HC-7077-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd03be72-06ff-46b7-920e-533ae0988028	c7014407-f794-4174-bf47-38a2745c06b8	g.chr11:2549250T>C	ENST00000155840.5	+	2	585		c.e2+2		KCNQ1_ENST00000335475.5_Splice_Site	NM_000218.2	NP_000209.2	P51787	KCNQ1_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 1						atrial cardiac muscle cell action potential (GO:0086014)|cardiac muscle contraction (GO:0060048)|cardiovascular system development (GO:0072358)|cellular response to cAMP (GO:0071320)|cellular response to drug (GO:0035690)|cellular response to epinephrine stimulus (GO:0071872)|gene silencing (GO:0016458)|male gonad development (GO:0008584)|membrane repolarization during action potential (GO:0086011)|membrane repolarization during cardiac muscle cell action potential (GO:0086013)|negative regulation of insulin secretion (GO:0046676)|positive regulation of gastric acid secretion (GO:0060454)|positive regulation of potassium ion transmembrane transport (GO:1901381)|potassium ion export (GO:0071435)|potassium ion transmembrane transport (GO:0071805)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of heart contraction (GO:0008016)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of membrane repolarization (GO:0060306)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|sensory perception of sound (GO:0007605)|synaptic transmission (GO:0007268)|ventricular cardiac muscle cell action potential (GO:0086005)	basolateral plasma membrane (GO:0016323)|early endosome (GO:0005769)|late endosome (GO:0005770)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|voltage-gated potassium channel complex (GO:0008076)|zymogen granule membrane (GO:0042589)	calmodulin binding (GO:0005516)|delayed rectifier potassium channel activity (GO:0005251)|ion channel binding (GO:0044325)|outward rectifier potassium channel activity (GO:0015271)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|protein phosphatase 1 binding (GO:0008157)|scaffold protein binding (GO:0097110)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated potassium channel activity involved in atrial cardiac muscle cell action potential repolarization (GO:0086089)|voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization (GO:0086008)|voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization (GO:1902282)			endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)	21		all_epithelial(84;3.26e-05)|Breast(177;0.001)|Medulloblastoma(188;0.00111)|Ovarian(85;0.00158)|all_neural(188;0.00725)|all_lung(207;0.11)|Lung NSC(207;0.159)		BRCA - Breast invasive adenocarcinoma(625;0.00251)|Lung(200;0.131)	Bepridil(DB01244)|Indapamide(DB00808)	TTCTGGATGGTACGTAGCATC	0.617																																						ENST00000155840.5																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)	21						c.e2+2		potassium voltage-gated channel, KQT-like subfamily, member 1	Bepridil(DB01244)|Indapamide(DB00808)						177	131	147					11																	2549250		2202	4299	6501	SO:0001630	splice_region_variant	3784				blood circulation|membrane depolarization|muscle contraction|sensory perception of sound		delayed rectifier potassium channel activity|protein binding	g.chr11:2549250T>C	AF000571	CCDS7736.1	11p15.5	2014-09-17			ENSG00000053918	ENSG00000053918		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6294	protein-coding gene	gene with protein product	"Jervell and Lange-Nielsen syndrome 1"	607542		LQT, KCNA9		8528244, 16382104	Standard	NM_181798		Approved	Kv7.1, KCNA8, KVLQT1, JLNS1, LQT1	uc001lwn.3	P51787	OTTHUMG00000009900	ENST00000155840.5:c.477+2T>C	11.37:g.2549250T>C						KCNQ1_ENST00000335475.5_Splice_Site		NM_000218.2	NP_000209.2	P51787	KCNQ1_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00251)|Lung(200;0.131)	2	585	+		all_epithelial(84;3.26e-05)|Breast(177;0.001)|Medulloblastoma(188;0.00111)|Ovarian(85;0.00158)|all_neural(188;0.00725)|all_lung(207;0.11)|Lung NSC(207;0.159)						O00347|O60607|O94787|Q14D14|Q7Z6G9|Q92960|Q9UMN8|Q9UMN9	Splice_Site	SNP	ENST00000155840.5	37		CCDS7736.1	.	.	.	.	.	.	.	.	.	.	T	13.34	2.209316	0.39003	.	.	ENSG00000053918	ENST00000496887;ENST00000155840;ENST00000335475	.	.	.	4.46	3.32	0.38043	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.1327	0.20215	0.0:0.1144:0.0:0.8856	.	.	.	.	.	-1	.	.	.	+	.	.	KCNQ1	2505826	1.000000	0.71417	0.959000	0.39883	0.466000	0.32739	3.799000	0.55529	1.803000	0.52742	0.459000	0.35465	.		0.617	KCNQ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027382.2	NM_000218	Intron	30	77	0	0	0	0.013726	0	30	77					C	2549250	T	C	2549250	5	2	196	1	0	0	0	0	0	0	1	0	8082	1652	57	4	494	4	KCNQ1	11	2549250	Splice_Site	SNP	T	TCGA-HC-7077-01A-11D-1961-08	1997305	2549250	132457266	33	9096											
ACCSL	390110	broad.mit.edu	37	chr11	44080233	44080233	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ctcatctttgcagatgagctCccccggctaaaattgggtga	9	11	10	11	1	2	3	1	2	1	1	3	3	3	3	2	2	2	3	2	2	2	3			TCGA-HC-7077-01A-11D-1961-08	TCGA-HC-7077-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd03be72-06ff-46b7-920e-533ae0988028	c7014407-f794-4174-bf47-38a2745c06b8	g.chr11:44080233C>T	ENST00000378832.1	+	13	1664	c.1608C>T	c.(1606-1608)ctC>ctT	p.L536L		NM_001031854.2	NP_001027025.2	Q4AC99	1A1L2_HUMAN	1-aminocyclopropane-1-carboxylate synthase homolog (Arabidopsis)(non-functional)-like	536					biosynthetic process (GO:0009058)		catalytic activity (GO:0003824)|pyridoxal phosphate binding (GO:0030170)			central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(14)|ovary(5)|pancreas(1)|skin(2)	34						CAGATGAGCTCCCCCGGCTAA	0.493																																						ENST00000378832.1																			0				central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(14)|ovary(5)|pancreas(1)|skin(2)	34						c.(1606-1608)ctC>ctT		1-aminocyclopropane-1-carboxylate synthase homolog (Arabidopsis)(non-functional)-like							50	52	51					11																	44080233		1866	4099	5965	SO:0001819	synonymous_variant	390110						1-aminocyclopropane-1-carboxylate synthase activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups	g.chr11:44080233C>T		CCDS41636.1	11p11.2	2008-11-26			ENSG00000205126	ENSG00000205126			34391	protein-coding gene	gene with protein product							Standard	NM_001031854		Approved		uc001mxw.1	Q4AC99	OTTHUMG00000166426	ENST00000378832.1:c.1608C>T	11.37:g.44080233C>T							p.L536L	NM_001031854.2	NP_001027025.2	Q4AC99	1A1L2_HUMAN			13	1664	+			536						Silent	SNP	ENST00000378832.1	37	c.1608C>T	CCDS41636.1																																																																																				0.493	ACCSL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389717.1	NM_001031854		22	54	0	0	0	0.014323	0	22	54					T	44080233	C	T	44080233	2	4	196	1	0	0	0	0	0	0	0	1	134	842	30	3		3	ACCSL	11	44080233	Silent	SNP	C	TCGA-HC-7077-01A-11D-1961-08	41530983	44080233	90926283	34	9097											
SF1	7536	broad.mit.edu	37	chr11	64536550	64536551	+	Frame_Shift_Del	DEL	TG	TG	-																															cctccacacttggtacacacTgtggtgttggtaatgctgcg																										TCGA-HC-7077-01A-11D-1961-08	TCGA-HC-7077-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd03be72-06ff-46b7-920e-533ae0988028	c7014407-f794-4174-bf47-38a2745c06b8	g.chr11:64536550_64536551delTG	ENST00000377390.3	-	8	1167_1168	c.830_831delCA	c.(829-831)acafs	p.T277fs	SF1_ENST00000377387.1_Frame_Shift_Del_p.T402fs|SF1_ENST00000422298.2_Frame_Shift_Del_p.T162fs|SF1_ENST00000489544.1_5'UTR|SF1_ENST00000334944.5_Frame_Shift_Del_p.T277fs|SF1_ENST00000377394.3_Frame_Shift_Del_p.T277fs|SF1_ENST00000227503.9_Frame_Shift_Del_p.T277fs|SF1_ENST00000433274.2_Frame_Shift_Del_p.T251fs	NM_004630.3	NP_004621.2	Q15637	SF01_HUMAN	splicing factor 1	277					Leydig cell differentiation (GO:0033327)|male sex determination (GO:0030238)|mRNA 3'-splice site recognition (GO:0000389)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of smooth muscle cell proliferation (GO:0048662)|regulation of steroid biosynthetic process (GO:0050810)|regulation of transcription, DNA-templated (GO:0006355)|spliceosomal complex assembly (GO:0000245)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|ribosome (GO:0005840)|spliceosomal complex (GO:0005681)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(12)|ovary(2)|skin(2)	31						TGGTACACACTGTGGTGTTGGT	0.505																																						ENST00000377390.3																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(12)|ovary(2)|skin(2)	31						c.(829-831)afs		splicing factor 1																																				SO:0001589	frameshift_variant	7536				nuclear mRNA 3'-splice site recognition|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ribosome|spliceosomal complex	protein binding|RNA binding|transcription corepressor activity|zinc ion binding	g.chr11:64536550_64536551delTG	D26120	CCDS8080.1, CCDS8081.1, CCDS31599.1, CCDS44642.1, CCDS44642.2, CCDS53660.1, CCDS53661.1	11q13	2014-09-17	2001-12-19	2002-01-11	ENSG00000168066	ENSG00000168066		"Zinc fingers, CCHC domain containing"	12950	protein-coding gene	gene with protein product		601516	"zinc finger protein 162"	ZNF162		7912130, 9573336	Standard	NM_201997		Approved	ZFM1, ZCCHC25	uc001oaz.2	Q15637	OTTHUMG00000066833	ENST00000377390.3:c.830_831delCA	11.37:g.64536552_64536553delTG	ENSP00000366607:p.Thr277fs					SF1_ENST00000377394.3_Frame_Shift_Del_p.T277fs|SF1_ENST00000422298.2_Frame_Shift_Del_p.T162fs|SF1_ENST00000489544.1_5'UTR|SF1_ENST00000227503.9_Frame_Shift_Del_p.T277fs|SF1_ENST00000433274.2_Frame_Shift_Del_p.T251fs|SF1_ENST00000334944.5_Frame_Shift_Del_p.T277fs|SF1_ENST00000377387.1_Frame_Shift_Del_p.T402fs	p.T277fs	NM_004630.3	NP_004621.2	Q15637	SF01_HUMAN			8	1167_1168	-			277					B7Z1Q1|C9JJE2|Q14818|Q14819|Q15913|Q8IY00|Q92744|Q92745|Q969H7|Q9BW01|Q9UEI0	Frame_Shift_Del	DEL	ENST00000377390.3	37	c.830_831delCA	CCDS31599.1																																																																																				0.505	SF1-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000143242.1	NM_004630		82	330						82	330	---	---	---	---	-	64536551	TG	-	64536550	7	5	196	1	0	1	0	1	0	0	0	0	14145	1567	55	0	1250	0	SF1	11	64536550	Frame_Shift_Del	DEL	TG	TCGA-HC-7077-01A-11D-1961-08	20456317	64536550	70469966	35	9098											
SESN3	143686	broad.mit.edu	37	chr11	94910979	94910979	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccatagtgttatatgtgagaTtgtagaccatccgaaacttt	12	14	8	7	1	0	2	0	1	0	2	1	4	1	2	3	0	1	2	3	0	5	6			TCGA-HC-7077-01A-11D-1961-08	TCGA-HC-7077-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd03be72-06ff-46b7-920e-533ae0988028	c7014407-f794-4174-bf47-38a2745c06b8	g.chr11:94910979T>C	ENST00000536441.1	-	8	1487	c.1151A>G	c.(1150-1152)aAt>aGt	p.N384S	SESN3_ENST00000278499.2_Missense_Mutation_p.N245S|RP11-712B9.2_ENST00000534891.1_RNA|RP11-712B9.2_ENST00000534864.1_RNA	NM_001271594.1|NM_144665.2	NP_001258523.1|NP_653266.2	P58005	SESN3_HUMAN	sestrin 3	384					glucose homeostasis (GO:0042593)|regulation of protein kinase B signaling (GO:0051896)|regulation of response to reactive oxygen species (GO:1901031)|response to insulin (GO:0032868)	nucleus (GO:0005634)				endometrium(5)|large_intestine(6)|lung(3)|skin(1)|stomach(1)	16		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)		BRCA - Breast invasive adenocarcinoma(274;0.234)		ATATGTGAGATTGTAGACCAT	0.403																																						ENST00000536441.1																			0				endometrium(5)|large_intestine(6)|lung(3)|skin(1)|stomach(1)	16						c.(1150-1152)aAt>aGt		sestrin 3							123	110	115					11																	94910979		2201	4298	6499	SO:0001583	missense	143686				cell cycle arrest	nucleus		g.chr11:94910979T>C	AK096300	CCDS8303.1, CCDS60938.1	11q21	2005-09-18			ENSG00000149212	ENSG00000149212			23060	protein-coding gene	gene with protein product		607768				12607115	Standard	NM_144665		Approved	SEST3, MGC29667	uc001pfj.4	P58005	OTTHUMG00000167829	ENST00000536441.1:c.1151A>G	11.37:g.94910979T>C	ENSP00000441927:p.Asn384Ser					SESN3_ENST00000278499.2_Missense_Mutation_p.N245S|RP11-712B9.2_ENST00000534891.1_RNA|RP11-712B9.2_ENST00000534864.1_RNA	p.N384S	NM_001271594.1|NM_144665.2	NP_001258523.1|NP_653266.2	P58005	SESN3_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.234)	8	1487	-		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)	384					B7Z7P9|Q96AD1	Missense_Mutation	SNP	ENST00000536441.1	37	c.1151A>G	CCDS8303.1	.	.	.	.	.	.	.	.	.	.	T	13.49	2.252436	0.39797	.	.	ENSG00000149212	ENST00000536441;ENST00000278499	T;T	0.22743	1.94;1.94	5.44	-1.11	0.09840	.	0.236464	0.41396	N	0.000897	T	0.18299	0.0439	L	0.56396	1.775	0.80722	D	1	B;B	0.06786	0.0;0.001	B;B	0.12837	0.008;0.008	T	0.06734	-1.0810	10	0.34782	T	0.22	-0.2704	9.8868	0.41266	0.0:0.3737:0.0:0.6263	.	245;384	B7Z7P9;P58005	.;SESN3_HUMAN	S	384;245	ENSP00000441927:N384S;ENSP00000278499:N245S	ENSP00000278499:N245S	N	-	2	0	SESN3	94550627	1.000000	0.71417	0.959000	0.39883	0.970000	0.65996	1.207000	0.32333	-0.466000	0.06943	-0.250000	0.11733	AAT		0.403	SESN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396475.3	NM_144665		4	64	0	0	0	0.009096	0	4	64					C	94910979	T	C	94910979	3	2	196	1	0	0	0	0	1	0	0	0	14126	1493	52	4	339	4	SESN3	11	94910979	Missense_Mutation	SNP	T	TCGA-HC-7077-01A-11D-1961-08	30374429	94910979	40095537	36	9099											
VWF	7450	broad.mit.edu	37	chr12	6101119	6101119	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cccacaggagctcacgttgcCatcacagtgccggggacagc	9	5	12	15	2	2	0	2	0	0	0	2	2	2	2	3	3	4	2	3	3	0	1			TCGA-HC-7077-01A-11D-1961-08	TCGA-HC-7077-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd03be72-06ff-46b7-920e-533ae0988028	c7014407-f794-4174-bf47-38a2745c06b8	g.chr12:6101119C>T	ENST00000261405.5	-	38	6918	c.6664G>A	c.(6664-6666)Ggc>Agc	p.G2222S		NM_000552.3	NP_000543	P04275	VWF_HUMAN	von Willebrand factor	2222	E2.				blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|cell-substrate adhesion (GO:0031589)|extracellular matrix organization (GO:0030198)|hemostasis (GO:0007599)|liver development (GO:0001889)|placenta development (GO:0001890)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|protein homooligomerization (GO:0051260)|response to wounding (GO:0009611)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|proteinaceous extracellular matrix (GO:0005578)|Weibel-Palade body (GO:0033093)	chaperone binding (GO:0051087)|collagen binding (GO:0005518)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|immunoglobulin binding (GO:0019865)|integrin binding (GO:0005178)|protease binding (GO:0002020)|protein homodimerization activity (GO:0042803)|protein N-terminus binding (GO:0047485)			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	CTCACGTTGCCATCACAGTGC	0.567																																						ENST00000261405.5																			0				NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129						c.(6664-6666)Ggc>Agc		von Willebrand factor	Antihemophilic Factor(DB00025)						110	86	94					12																	6101119		2203	4300	6503	SO:0001583	missense	7450				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding	g.chr12:6101119C>T		CCDS8539.1	12p13.3	2014-09-17			ENSG00000110799	ENSG00000110799		"Endogenous ligands"	12726	protein-coding gene	gene with protein product		613160		F8VWF		2251280	Standard	NM_000552		Approved		uc001qnn.1	P04275	OTTHUMG00000168265	ENST00000261405.5:c.6664G>A	12.37:g.6101119C>T	ENSP00000261405:p.Gly2222Ser						p.G2222S	NM_000552.3	NP_000543.2	P04275	VWF_HUMAN			38	6918	-			2222			E2.		Q8TCE8|Q99806	Missense_Mutation	SNP	ENST00000261405.5	37	c.6664G>A	CCDS8539.1	.	.	.	.	.	.	.	.	.	.	c	15.41	2.825807	0.50739	.	.	ENSG00000110799	ENST00000261405	D	0.90197	-2.63	5.64	5.64	0.86602	Protease inhibitor I8, cysteine-rich trypsin inhibitor-like (2);	0.152222	0.30879	N	0.008692	D	0.82879	0.5133	N	0.25992	0.78	0.51767	D	0.999931	P	0.43788	0.817	P	0.44673	0.457	T	0.79757	-0.1669	10	0.06099	T	0.92	.	8.2694	0.31836	0.0:0.8326:0.0:0.1674	.	2222	P04275	VWF_HUMAN	S	2222	ENSP00000261405:G2222S	ENSP00000261405:G2222S	G	-	1	0	VWF	5971380	0.681000	0.27614	0.945000	0.38365	0.678000	0.39670	1.325000	0.33724	2.639000	0.89480	0.643000	0.83706	GGC		0.567	VWF-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399020.1	NM_000552		12	44	0	0	0	0.010729	0	12	44					T	6101119	C	T	6101119	3	4	196	1	0	0	0	0	1	0	0	0	17243	594	21	3	1837	3	VWF	12	6101119	Missense_Mutation	SNP	C	TCGA-HC-7077-01A-11D-1961-08		6101119	127750776	37	9100											
GRIN2B	2904	broad.mit.edu	37	chr12	13716716	13716716	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctccgctccttgtagatgtcGgtcaggtctacgtgctccca	5	12	10	14	3	2	1	1	0	1	1	6	1	5	1	3	2	2	3	3	2	2	3			TCGA-HC-7077-01A-11D-1961-08	TCGA-HC-7077-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd03be72-06ff-46b7-920e-533ae0988028	c7014407-f794-4174-bf47-38a2745c06b8	g.chr12:13716716G>A	ENST00000609686.1	-	13	3665	c.3456C>T	c.(3454-3456)acC>acT	p.T1152T		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	1152					behavioral fear response (GO:0001662)|behavioral response to pain (GO:0048266)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|glutamate receptor signaling pathway (GO:0007215)|in utero embryonic development (GO:0001701)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning (GO:0007612)|learning or memory (GO:0007611)|memory (GO:0007613)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of synaptic plasticity (GO:0048167)|response to ethanol (GO:0045471)|sensory organ development (GO:0007423)|startle response (GO:0001964)|suckling behavior (GO:0001967)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Haloperidol(DB00502)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	TGTAGATGTCGGTCAGGTCTA	0.577																																						ENST00000279593.3																			0				NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143						c.(3454-3456)acC>acT		glutamate receptor, ionotropic, N-methyl D-aspartate 2B	Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)						109	90	96					12																	13716716		2203	4300	6503	SO:0001819	synonymous_variant	2904				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	g.chr12:13716716G>A		CCDS8662.1	12p13.1	2014-07-16			ENSG00000273079			"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4586	protein-coding gene	gene with protein product		138252		NMDAR2B		1350383	Standard	NM_000834		Approved	GluN2B	uc001rbt.2	Q13224	OTTHUMG00000137373	ENST00000609686.1:c.3456C>T	12.37:g.13716716G>A							p.T1152T	NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN			13	3665	-			1152					Q12919|Q13220|Q13225|Q14CU4|Q9UM56	Silent	SNP	ENST00000609686.1	37	c.3456C>T	CCDS8662.1																																																																																				0.577	GRIN2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268014.2			24	40	0	0	0	0.014323	0	24	40					A	13716716	G	A	13716716	2	1	196	1	0	0	0	0	0	0	0	1	6780	1103	39	2		2	GRIN2B	12	13716716	Silent	SNP	G	TCGA-HC-7077-01A-11D-1961-08	7615597	13716716	120135179	38	9101											
KIF21A	55605	broad.mit.edu	37	chr12	39727024	39727024	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cttactgtacctcttcagttTtgcgacgtagaaccacttct	8	15	6	12	2	3	1	1	0	2	1	3	2	3	1	2	0	4	3	2	0	4	7			TCGA-HC-7077-01A-11D-1961-08	TCGA-HC-7077-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd03be72-06ff-46b7-920e-533ae0988028	c7014407-f794-4174-bf47-38a2745c06b8	g.chr12:39727024T>C	ENST00000361418.5	-	18	2492	c.2477A>G	c.(2476-2478)aAa>aGa	p.K826R	KIF21A_ENST00000361961.3_Missense_Mutation_p.K813R|KIF21A_ENST00000541463.2_Intron|KIF21A_ENST00000395670.3_Missense_Mutation_p.K826R|KIF21A_ENST00000544797.2_Missense_Mutation_p.K813R			Q7Z4S6	KI21A_HUMAN	kinesin family member 21A	826				K -> Q (in Ref. 3; AAP97680). {ECO:0000305}.	ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	86		Lung NSC(34;0.179)|all_lung(34;0.213)				CTCTTCAGTTTTGCGACGTAG	0.343																																						ENST00000395670.3																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	86						c.(2476-2478)aAa>aGa		kinesin family member 21A							244	242	242					12																	39727024		2203	4300	6503	SO:0001583	missense	55605				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr12:39727024T>C	AK000059	CCDS31773.1, CCDS53774.1, CCDS53775.1, CCDS53776.1	12q12	2013-01-10						"Kinesins", "WD repeat domain containing"	19349	protein-coding gene	gene with protein product		608283	"fibrosis of the extraocular muscles, congenital, 1"	FEOM1		10225949	Standard	NM_017641		Approved	FLJ20052	uc001rly.3	Q7Z4S6	OTTHUMG00000169335	ENST00000361418.5:c.2477A>G	12.37:g.39727024T>C	ENSP00000354878:p.Lys826Arg					KIF21A_ENST00000361418.5_Missense_Mutation_p.K826R|KIF21A_ENST00000541463.2_Intron|KIF21A_ENST00000361961.3_Missense_Mutation_p.K813R|KIF21A_ENST00000544797.2_Missense_Mutation_p.K813R	p.K826R			Q7Z4S6	KI21A_HUMAN			18	2896	-		Lung NSC(34;0.179)|all_lung(34;0.213)	826	K -> Q (in Ref. 2; AAP97680).				A8MX28|B0I1R9|B9EGE4|F5H0C3|F5H219|Q2UVF1|Q6UKL9|Q7Z668|Q86WZ5|Q8IVZ8|Q9C0F5|Q9NXU4|Q9Y590	Missense_Mutation	SNP	ENST00000361418.5	37	c.2477A>G	CCDS53776.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	16.88|16.88	3.244977|3.244977	0.59103|0.59103	.|.	.|.	ENSG00000139116|ENSG00000139116	ENST00000552961|ENST00000361961;ENST00000395670;ENST00000341813;ENST00000544797;ENST00000361418	T|T;T;T;T	0.19250|0.20738	2.16|2.05;2.05;2.05;2.05	5.38|5.38	5.38|5.38	0.77491|0.77491	.|.	0.000000|0.000000	0.53938|0.53938	D|D	0.000053|0.000053	T|T	0.40645|0.40645	0.1125|0.1125	M|M	0.80616|0.80616	2.505|2.505	0.54753|0.54753	D|D	0.999988|0.999988	.|B;P;P;P	.|0.51057	.|0.001;0.905;0.675;0.941	.|B;P;B;P	.|0.52109	.|0.003;0.69;0.218;0.631	T|T	0.38929|0.38929	-0.9638|-0.9638	8|10	0.87932|0.51188	D|T	0|0.08	.|.	15.3885|15.3885	0.74723|0.74723	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|813;826;813;826	.|F5H219;Q7Z4S6;Q7Z4S6-2;Q7Z4S6-3	.|.;KI21A_HUMAN;.;.	E|R	174|813;826;826;813;826	ENSP00000447765:K174E|ENSP00000354851:K813R;ENSP00000379029:K826R;ENSP00000445606:K813R;ENSP00000354878:K826R	ENSP00000449698:K84E|ENSP00000344501:K826R	K|K	-|-	1|2	0|0	KIF21A|KIF21A	38013291|38013291	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.982000|0.982000	0.71751|0.71751	2.960000|2.960000	0.49161|0.49161	2.047000|2.047000	0.60756|0.60756	0.455000|0.455000	0.32223|0.32223	AAA|AAA		0.343	KIF21A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403581.1	NM_017641		74	177	0	0	0	0.01441	0	74	177					C	39727024	T	C	39727024	3	2	196	1	0	0	0	0	1	0	0	0	8288	1841	64	4	2631	4	KIF21A	12	39727024	Missense_Mutation	SNP	T	TCGA-HC-7077-01A-11D-1961-08	26010308	39727024	94124871	39	9102											
LRRK2	120892	broad.mit.edu	37	chr12	40677930	40677930	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacttctaatttaaggaaacAaacaagtaagtaacaaggag	20	8	8	5	0	1	0	0	0	1	0	1	3	1	2	0	2	3	2	0	2	8	6			TCGA-HC-7077-01A-11D-1961-08	TCGA-HC-7077-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd03be72-06ff-46b7-920e-533ae0988028	c7014407-f794-4174-bf47-38a2745c06b8	g.chr12:40677930A>G	ENST00000298910.7	+	19	2553	c.2495A>G	c.(2494-2496)cAa>cGa	p.Q832R	LRRK2_ENST00000343742.2_Missense_Mutation_p.Q832R	NM_198578.3	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	832					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|autophagy (GO:0006914)|cellular protein localization (GO:0034613)|cellular response to dopamine (GO:1903351)|cellular response to manganese ion (GO:0071287)|cellular response to oxidative stress (GO:0034599)|determination of adult lifespan (GO:0008340)|endocytosis (GO:0006897)|exploration behavior (GO:0035640)|GTP catabolic process (GO:0006184)|intracellular distribution of mitochondria (GO:0048312)|intracellular signal transduction (GO:0035556)|locomotory exploration behavior (GO:0035641)|MAPK cascade (GO:0000165)|negative regulation of GTPase activity (GO:0034260)|negative regulation of hydrogen peroxide-induced cell death (GO:1903206)|negative regulation of late endosome to lysosome transport (GO:1902823)|negative regulation of peroxidase activity (GO:2000469)|negative regulation of protein binding (GO:0032091)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein processing (GO:0010955)|negative regulation of protein processing involved in protein targeting to mitochondrion (GO:1903217)|negative regulation of protein targeting to mitochondrion (GO:1903215)|negative regulation of thioredoxin peroxidase activity by peptidyl-threonine phosphorylation (GO:1903125)|neuromuscular junction development (GO:0007528)|neuron death (GO:0070997)|neuron projection morphogenesis (GO:0048812)|olfactory bulb development (GO:0021772)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of autophagy (GO:0010508)|positive regulation of dopamine receptor signaling pathway (GO:0060161)|positive regulation of GTPase activity (GO:0043547)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of programmed cell death (GO:0043068)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein autoubiquitination (GO:1902499)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination (GO:0031398)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reactive oxygen species metabolic process (GO:0072593)|regulation of branching morphogenesis of a nerve (GO:2000172)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of dopamine receptor signaling pathway (GO:0060159)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of kidney size (GO:0035564)|regulation of locomotion (GO:0040012)|regulation of membrane potential (GO:0042391)|regulation of mitochondrial depolarization (GO:0051900)|regulation of neuroblast proliferation (GO:1902692)|regulation of neuron death (GO:1901214)|regulation of neuron maturation (GO:0014041)|regulation of protein kinase A signaling (GO:0010738)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of synaptic vesicle exocytosis (GO:2000300)|regulation of synaptic vesicle transport (GO:1902803)|response to oxidative stress (GO:0006979)|small GTPase mediated signal transduction (GO:0007264)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytoplasmic side of mitochondrial outer membrane (GO:0032473)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite (GO:0030425)|dendrite cytoplasm (GO:0032839)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|inclusion body (GO:0016234)|lysosome (GO:0005764)|membrane raft (GO:0045121)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)|terminal bouton (GO:0043195)|trans-Golgi network (GO:0005802)	actin binding (GO:0003779)|ATP binding (GO:0005524)|clathrin binding (GO:0030276)|glycoprotein binding (GO:0001948)|GTP binding (GO:0005525)|GTP-dependent protein kinase activity (GO:0034211)|GTPase activator activity (GO:0005096)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|kinase activity (GO:0016301)|MAP kinase kinase activity (GO:0004708)|peroxidase inhibitor activity (GO:0036479)|protein homodimerization activity (GO:0042803)|protein kinase A binding (GO:0051018)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|Rho GTPase binding (GO:0017048)|SNARE binding (GO:0000149)|syntaxin-1 binding (GO:0017075)|tubulin binding (GO:0015631)			NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				TTAAGGAAACAAACAAGTAAG	0.313																																						ENST00000298910.7																			0				NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181						c.(2494-2496)cAa>cGa		leucine-rich repeat kinase 2							70	77	75					12																	40677930		2203	4300	6503	SO:0001583	missense	120892				activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding	g.chr12:40677930A>G	AK026776	CCDS31774.1	12q12	2011-07-21			ENSG00000188906	ENSG00000188906		"Parkinson disease"	18618	protein-coding gene	gene with protein product		609007	"Parkinson disease (autosomal dominant) 8"	PARK8		15541308	Standard	NM_198578		Approved	ROCO2, DKFZp434H2111, FLJ45829, RIPK7	uc001rmg.4	Q5S007	OTTHUMG00000059742	ENST00000298910.7:c.2495A>G	12.37:g.40677930A>G	ENSP00000298910:p.Gln832Arg					LRRK2_ENST00000343742.2_Missense_Mutation_p.Q832R	p.Q832R	NM_198578.3	NP_940980.3	Q5S007	LRRK2_HUMAN			19	2553	+	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)	832					A6NJU2|Q6ZS50|Q8NCX9	Missense_Mutation	SNP	ENST00000298910.7	37	c.2495A>G	CCDS31774.1	.	.	.	.	.	.	.	.	.	.	A	14.76	2.631252	0.46944	.	.	ENSG00000188906	ENST00000343742;ENST00000298910	T;T	0.71817	2.23;-0.6	5.05	5.05	0.67936	.	0.310461	0.34725	N	0.003728	T	0.55878	0.1948	N	0.19112	0.55	0.35927	D	0.832217	B;B	0.20052	0.041;0.002	B;B	0.19391	0.025;0.001	T	0.58457	-0.7633	9	.	.	.	.	15.079	0.72099	1.0:0.0:0.0:0.0	.	832;832	E9PC85;Q5S007	.;LRRK2_HUMAN	R	832	ENSP00000341930:Q832R;ENSP00000298910:Q832R	.	Q	+	2	0	LRRK2	38964197	1.000000	0.71417	0.916000	0.36221	0.751000	0.42716	7.413000	0.80104	2.021000	0.59480	0.482000	0.46254	CAA		0.313	LRRK2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277179.1	XM_058513		12	52	0	0	0	0.010729	0	12	52					G	40677930	A	G	40677930	3	3	196	1	0	0	0	0	1	0	0	0	9033	130	5	4	2569	4	LRRK2	12	40677930	Missense_Mutation	SNP	A	TCGA-HC-7077-01A-11D-1961-08	950906	40677930	93173965	40	9103											
BEST3	144453	broad.mit.edu	37	chr12	70072612	70072612	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aaccagatgaatggaacccaAtatttcagatgaggagactt	16	9	9	7	0	1	5	1	2	0	3	1	7	1	6	2	2	2	0	2	2	5	3			TCGA-HC-7077-01A-11D-1961-08	TCGA-HC-7077-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd03be72-06ff-46b7-920e-533ae0988028	c7014407-f794-4174-bf47-38a2745c06b8	g.chr12:70072612A>G	ENST00000330891.5	-	5	769	c.543T>C	c.(541-543)taT>taC	p.Y181Y	BEST3_ENST00000331471.4_Silent_p.Y181Y|BEST3_ENST00000553096.1_Silent_p.Y75Y|BEST3_ENST00000476098.1_Silent_p.Y19Y|BEST3_ENST00000488961.1_Silent_p.Y19Y	NM_001282613.1|NM_032735.2	NP_001269542.1|NP_116124.2	Q8N1M1	BEST3_HUMAN	bestrophin 3	181					negative regulation of ion transport (GO:0043271)	chloride channel complex (GO:0034707)|plasma membrane (GO:0005886)	chloride channel activity (GO:0005254)			cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(2)	12	Breast(13;2.31e-06)|Esophageal squamous(21;0.187)		Lung(24;0.000278)|OV - Ovarian serous cystadenocarcinoma(12;0.0019)|STAD - Stomach adenocarcinoma(21;0.00694)			ATGGAACCCAATATTTCAGAT	0.358																																						ENST00000330891.5																			0				cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(2)	12						c.(541-543)taT>taC		bestrophin 3							111	102	105					12																	70072612		1848	4101	5949	SO:0001819	synonymous_variant	144453					chloride channel complex|plasma membrane	chloride channel activity	g.chr12:70072612A>G	AF440758	CCDS8992.2, CCDS41810.1, CCDS61192.1, CCDS61193.1, CCDS73496.1	12q14.2-q15	2012-09-26	2006-10-18	2006-10-18	ENSG00000127325	ENSG00000127325		"Ion channels / Chloride channels : Calcium activated : Bestrophins"	17105	protein-coding gene	gene with protein product		607337	"vitelliform macular dystrophy 2-like 3"	VMD2L3		12032738	Standard	NM_032735		Approved	MGC40411, MGC13168	uc001svg.3	Q8N1M1	OTTHUMG00000149919	ENST00000330891.5:c.543T>C	12.37:g.70072612A>G						BEST3_ENST00000553096.1_Silent_p.Y75Y|BEST3_ENST00000488961.1_Silent_p.Y19Y|BEST3_ENST00000476098.1_Silent_p.Y19Y|BEST3_ENST00000331471.4_Silent_p.Y181Y	p.Y181Y	NM_032735.2	NP_116124.2	Q8N1M1	BEST3_HUMAN	Lung(24;0.000278)|OV - Ovarian serous cystadenocarcinoma(12;0.0019)|STAD - Stomach adenocarcinoma(21;0.00694)		5	769	-	Breast(13;2.31e-06)|Esophageal squamous(21;0.187)		181					B5MDI8|F8VVZ2|Q53YQ7|Q8N356|Q8NFT9|Q9BR80	Silent	SNP	ENST00000330891.5	37	c.543T>C	CCDS8992.2																																																																																				0.358	BEST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313908.2	NM_152439		6	50	0	0	0	0.001984	0	6	50					G	70072612	A	G	70072612	2	3	196	1	0	0	0	0	0	0	0	1	1406	108	4	4		4	BEST3	12	70072612	Silent	SNP	A	TCGA-HC-7077-01A-11D-1961-08	29394682	70072612	63779283	41	9104											
KDM2B	84678	broad.mit.edu	37	chr12	121880538	121880538	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tggtcgctctccctggtcttGgggggcgcctcgggcagttc	1	11	16	13	3	2	0	0	0	2	0	6	0	2	0	2	6	0	3	2	6	0	2			TCGA-HC-7077-01A-11D-1961-08	TCGA-HC-7077-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd03be72-06ff-46b7-920e-533ae0988028	c7014407-f794-4174-bf47-38a2745c06b8	g.chr12:121880538G>A	ENST00000377071.4	-	19	2778	c.2706C>T	c.(2704-2706)ccC>ccT	p.P902P	KDM2B_ENST00000536437.1_Intron|KDM2B_ENST00000542973.1_Silent_p.P270P|KDM2B_ENST00000377069.4_Silent_p.P833P	NM_032590.4	NP_115979.3	Q8NHM5	KDM2B_HUMAN	lysine (K)-specific demethylase 2B	902					embryonic camera-type eye morphogenesis (GO:0048596)|forebrain development (GO:0030900)|fourth ventricle development (GO:0021592)|hindbrain development (GO:0030902)|histone demethylation (GO:0016577)|histone H2A monoubiquitination (GO:0035518)|initiation of neural tube closure (GO:0021993)|lateral ventricle development (GO:0021670)|midbrain development (GO:0030901)|midbrain-hindbrain boundary morphogenesis (GO:0021555)|negative regulation of neural precursor cell proliferation (GO:2000178)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|spermatogenesis (GO:0007283)|third ventricle development (GO:0021678)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone demethylase activity (GO:0032452)|histone demethylase activity (H3-K36 specific) (GO:0051864)|rRNA binding (GO:0019843)|zinc ion binding (GO:0008270)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	19						CCCTGGTCTTGGGGGGCGCCT	0.697																																						ENST00000377069.4																			0				breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	19						c.(2497-2499)ccC>ccT		lysine (K)-specific demethylase 2B							10	11	11					12																	121880538		1871	4062	5933	SO:0001819	synonymous_variant	84678				embryonic camera-type eye morphogenesis|fourth ventricle development|histone H2A monoubiquitination|initiation of neural tube closure|lateral ventricle development|midbrain development|midbrain-hindbrain boundary morphogenesis|negative regulation of neural precursor cell proliferation|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|spermatogenesis|third ventricle development|transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|rRNA binding|zinc ion binding	g.chr12:121880538G>A	AJ459424	CCDS41849.1, CCDS41850.1	12q24.31	2014-02-18	2009-04-06	2009-04-06	ENSG00000089094	ENSG00000089094		"F-boxes / Leucine-rich repeats", "Chromatin-modifying enzymes / K-demethylases"	13610	protein-coding gene	gene with protein product	"jumonji C domain-containing histone demethylase 1B"	609078	"F-box and leucine-rich repeat protein 10"	FBXL10		10799292	Standard	NM_032590		Approved	PCCX2, CXXC2, Fbl10, JHDM1B	uc001uat.3	Q8NHM5	OTTHUMG00000169071	ENST00000377071.4:c.2706C>T	12.37:g.121880538G>A						KDM2B_ENST00000377071.4_Silent_p.P902P|KDM2B_ENST00000542973.1_Silent_p.P270P|KDM2B_ENST00000536437.1_Intron	p.P833P	NM_001005366.1	NP_001005366.1	Q8NHM5	KDM2B_HUMAN			18	2905	-			902					A8MRS1|Q8NCI2|Q96HC7|Q96SL0|Q96T03|Q9NS96|Q9UF75	Silent	SNP	ENST00000377071.4	37	c.2499C>T	CCDS41850.1																																																																																				0.697	KDM2B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000402132.2	NM_032590		4	22	0	0	0	0.009096	0	4	22					A	121880538	G	A	121880538	2	1	196	1	0	0	0	0	0	0	0	1	8125	1335	47	3		3	KDM2B	12	121880538	Silent	SNP	G	TCGA-HC-7077-01A-11D-1961-08	51807926	121880538	11971357	42	9105											
DIAPH3	81624	broad.mit.edu	37	chr13	60565296	60565296	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tacaacttcctcttaccttaTaaaataatcatttcgaatca	15	15	1	10	1	3	0	2	0	1	0	5	1	4	0	2	0	3	0	2	0	8	7			TCGA-HC-7077-01A-11D-1961-08	TCGA-HC-7077-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd03be72-06ff-46b7-920e-533ae0988028	c7014407-f794-4174-bf47-38a2745c06b8	g.chr13:60565296T>C	ENST00000400324.4	-	12	1577	c.1357A>G	c.(1357-1359)Ata>Gta	p.I453V	DIAPH3_ENST00000400320.1_Missense_Mutation_p.I407V|DIAPH3_ENST00000377908.2_Missense_Mutation_p.I442V|DIAPH3_ENST00000400319.1_Missense_Mutation_p.I383V|DIAPH3_ENST00000267215.4_Missense_Mutation_p.I453V|DIAPH3_ENST00000465066.1_5'UTR|DIAPH3_ENST00000400330.1_Missense_Mutation_p.I453V	NM_001042517.1|NM_001258366.1	NP_001035982.1|NP_001245295.1	Q9NSV4	DIAP3_HUMAN	diaphanous-related formin 3	453	GBD/FH3. {ECO:0000255|PROSITE- ProRule:PRU00579}.				actin cytoskeleton organization (GO:0030036)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|liver(1)|lung(20)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Breast(118;0.052)|Prostate(109;0.103)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;2.77e-05)		TCTTACCTTATAAAATAATCA	0.294																																						ENST00000400324.4																			0				cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|liver(1)|lung(20)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						c.(1357-1359)Ata>Gta		diaphanous-related formin 3							55	53	54					13																	60565296		1794	4050	5844	SO:0001583	missense	81624				actin cytoskeleton organization		actin binding|Rho GTPase binding	g.chr13:60565296T>C	AL137718	CCDS41898.1, CCDS58294.1, CCDS58295.1, CCDS58296.1, CCDS58297.1, CCDS73579.1, CCDS73580.1	13q21.2	2013-05-24	2013-05-24		ENSG00000139734	ENSG00000139734			15480	protein-coding gene	gene with protein product		614567	"diaphanous (Drosophila, homolog) 3", "auditory neuropathy, autosomal dominant 1", "diaphanous homolog 3 (Drosophila)"	AUNA1		14767582, 20624953	Standard	NM_030932		Approved	DRF3, FLJ34705, AN, NSDAN	uc001vht.4	Q9NSV4	OTTHUMG00000017004	ENST00000400324.4:c.1357A>G	13.37:g.60565296T>C	ENSP00000383178:p.Ile453Val					DIAPH3_ENST00000400330.1_Missense_Mutation_p.I453V|DIAPH3_ENST00000400320.1_Missense_Mutation_p.I407V|DIAPH3_ENST00000267215.4_Missense_Mutation_p.I453V|DIAPH3_ENST00000465066.1_5'UTR|DIAPH3_ENST00000377908.2_Missense_Mutation_p.I442V|DIAPH3_ENST00000400319.1_Missense_Mutation_p.I383V	p.I453V	NM_001042517.1|NM_001258366.1	NP_001035982.1|NP_001245295.1	Q9NSV4	DIAP3_HUMAN		GBM - Glioblastoma multiforme(99;2.77e-05)	12	1577	-		Breast(118;0.052)|Prostate(109;0.103)|Hepatocellular(98;0.132)	453			GBD/FH3.		A2A3B8|A2A3B9|A2A3C0|Q18P99|Q18PA0|Q18PA1|Q2KPB6|Q3ZK23|Q5JTP8|Q5T2S7|Q5XKF6|Q6MZF0|Q6NUP0|Q86VS4|Q8NAV4	Missense_Mutation	SNP	ENST00000400324.4	37	c.1357A>G	CCDS41898.1	.	.	.	.	.	.	.	.	.	.	T	8.316	0.823275	0.16678	.	.	ENSG00000139734	ENST00000400324;ENST00000400330;ENST00000400327;ENST00000413168;ENST00000400329;ENST00000377908;ENST00000400319;ENST00000400320;ENST00000267215;ENST00000267214;ENST00000453990	D;D;D;D;D;D	0.82803	-1.65;-1.65;-1.65;-1.65;-1.65;-1.65	5.63	4.45	0.53987	GTPase-binding/formin homology 3 (1);Diaphanous FH3 (1);Armadillo-type fold (1);	0.159823	0.56097	N	0.000034	T	0.81153	0.4763	L	0.28054	0.825	0.80722	D	1	B;B;P	0.45348	0.077;0.354;0.856	B;B;P	0.60949	0.051;0.138;0.881	T	0.74867	-0.3518	10	0.14656	T	0.56	.	8.5542	0.33471	0.0:0.1481:0.0:0.8519	.	190;190;453	Q9NSV4-2;Q9NSV4-1;Q9NSV4	.;.;DIAP3_HUMAN	V	453;453;442;407;383;442;383;407;453;190;453	ENSP00000383178:I453V;ENSP00000383184:I453V;ENSP00000367141:I442V;ENSP00000383173:I383V;ENSP00000383174:I407V;ENSP00000267215:I453V	ENSP00000267214:I190V	I	-	1	0	DIAPH3	59463297	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	2.243000	0.43115	0.960000	0.38005	0.533000	0.62120	ATA		0.294	DIAPH3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045166.3	NM_001042517		10	28	0	0	0	0.006214	0	10	28					C	60565296	T	C	60565296	3	2	196	1	0	0	0	0	1	0	0	0	4520	1406	49	4	2312	4	DIAPH3	13	60565296	Missense_Mutation	SNP	T	TCGA-HC-7077-01A-11D-1961-08		60565296	54604582	43	9106											
DACH1	1602	broad.mit.edu	37	chr13	72440704	72440705	+	In_Frame_Ins	INS	-	-	GCC																															cgccggtagaggtgactgtgINSgccgccgccgccgccgccga																								rs538753327	byFrequency	TCGA-HC-7077-01A-11D-1961-08	TCGA-HC-7077-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd03be72-06ff-46b7-920e-533ae0988028	c7014407-f794-4174-bf47-38a2745c06b8	g.chr13:72440704_72440705insGCC	ENST00000359684.2	-	1	202_203	c.203_204insGGC	c.(202-204)gcc>gcGGCc	p.68_68A>AA	DACH1_ENST00000354591.4_In_Frame_Ins_p.68_68A>AA|DACH1_ENST00000313174.7_In_Frame_Ins_p.68_68A>AA|DACH1_ENST00000305425.4_In_Frame_Ins_p.68_68A>AA			Q9UI36	DACH1_HUMAN	dachshund family transcription factor 1	68	Poly-Ala.				cell proliferation (GO:0008283)|development of primary female sexual characteristics (GO:0046545)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation involved in contact inhibition (GO:0060244)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of transcription by competitive promoter binding (GO:0010944)|respiratory gaseous exchange (GO:0007585)|suckling behavior (GO:0001967)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity involved in preinitiation complex assembly (GO:0001075)			NS(1)|breast(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Acute lymphoblastic leukemia(28;0.0503)|Breast(118;0.198)		GBM - Glioblastoma multiforme(99;0.00032)		AGGTGACTGTGGCCGCCGCCGC	0.797														20	0.00399361	0.0129	0.0014	5008	,	,		6810	0.001		0	False		,,,				2504	0.001					ENST00000305425.4																			0				NS(1)|breast(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						c.(202-204)gac>gGGCac		dachshund homolog 1 (Drosophila)																																				SO:0001652	inframe_insertion	1602				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|nucleotide binding|protein binding	g.chr13:72440704_72440705insGCC	AJ005670	CCDS41899.1, CCDS53874.1, CCDS53873.1	13q22	2014-02-03	2014-02-03	2004-04-02	ENSG00000165659	ENSG00000276644			2663	protein-coding gene	gene with protein product		603803	"dachshund homolog (Drosophila)", "dachshund homolog 1 (Drosophila)"	DACH		9933575, 10395809, 15057823	Standard	NM_004392		Approved		uc021rkj.1	Q9UI36	OTTHUMG00000017063	ENST00000359684.2:c.201_203dupGGC	13.37:g.72440711_72440713dupGCC	ENSP00000352712:p.Ala68dup					DACH1_ENST00000359684.2_In_Frame_Ins_p.68_68D>GH|DACH1_ENST00000354591.4_In_Frame_Ins_p.68_68D>GH|DACH1_ENST00000313174.7_In_Frame_Ins_p.68_68D>GH	p.68_68D>GH	NM_080759.4	NP_542937.2	Q9UI36	DACH1_HUMAN		GBM - Glioblastoma multiforme(99;0.00032)	1	625_626	-		Acute lymphoblastic leukemia(28;0.0503)|Breast(118;0.198)	68			Poly-Ala.		D0FY35|D0FY36|O75523|O75687|Q5VYY3|Q5VYY4|Q96SG3|Q96SG4|Q9H524|Q9UMH4	In_Frame_Ins	INS	ENST00000359684.2	37	c.203_204insGGC																																																																																					0.797	DACH1-002	KNOWN	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000045240.1	NM_004392		3	4						3	4	---	---	---	---	GCC	72440705	-	GCC	72440704	7	5	196	1	0	1	1	0	0	0	0	0	4220	1335	47	0	1966	0	DACH1	13	72440704	In_Frame_Ins	INS	-	TCGA-HC-7077-01A-11D-1961-08	11875408	72440704	42729174	44	9107											
C13orf37	440145	broad.mit.edu	37	chr13	73293092	73293092	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctaataggaatctccaacctTcagtgcttcagtagccttgc	10	12	7	12	0	3	0	2	0	1	0	4	1	3	1	3	1	4	2	3	1	5	6			TCGA-HC-7077-01A-11D-1961-08	TCGA-HC-7077-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd03be72-06ff-46b7-920e-533ae0988028	c7014407-f794-4174-bf47-38a2745c06b8	g.chr13:73293092T>G	ENST00000377818.3	-	2	307	c.223A>C	c.(223-225)Aag>Cag	p.K75Q		NM_001071775.2	NP_001065243.1	Q08AG7	MZT1_HUMAN	mitotic spindle organizing protein 1	75					gamma-tubulin complex localization (GO:0033566)	centrosome (GO:0005813)|gamma-tubulin ring complex (GO:0008274)|spindle (GO:0005819)				endometrium(1)|kidney(1)|large_intestine(1)|lung(1)	4						TCTCCAACCTTCAGTGCTTCA	0.358																																						ENST00000377818.3																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(1)	4						c.(223-225)Aag>Cag		mitotic spindle organizing protein 1							102	107	106					13																	73293092		2203	4300	6503	SO:0001583	missense	440145				gamma-tubulin complex localization	centrosome|gamma-tubulin ring complex|spindle	protein binding	g.chr13:73293092T>G		CCDS31990.1	13q22.1	2013-08-13	2010-07-22	2010-07-22	ENSG00000204899	ENSG00000204899			33830	protein-coding gene	gene with protein product	"mitotic-spindle organizing protein associated with a ring of gamma-tubulin 1"	613448	"chromosome 13 open reading frame 37"	C13orf37		20360068	Standard	NM_001071775		Approved	LOC440145, FLJ21869, MGC150539, RP11-11C5.2, MOZART1	uc001viu.2	Q08AG7	OTTHUMG00000017069	ENST00000377818.3:c.223A>C	13.37:g.73293092T>G	ENSP00000367049:p.Lys75Gln						p.K75Q	NM_001071775.2	NP_001065243.1	Q08AG7	MZT1_HUMAN			2	307	-			75					Q5W0P5	Missense_Mutation	SNP	ENST00000377818.3	37	c.223A>C	CCDS31990.1	.	.	.	.	.	.	.	.	.	.	T	24.8	4.574908	0.86542	.	.	ENSG00000204899	ENST00000377818	T	0.48522	0.81	5.7	5.7	0.88788	.	0.053109	0.64402	D	0.000001	T	0.41766	0.1173	.	.	.	0.58432	D	0.999996	P	0.37781	0.608	B	0.35550	0.205	T	0.30416	-0.9979	9	0.36615	T	0.2	-23.0001	15.9666	0.79979	0.0:0.0:0.0:1.0	.	75	Q08AG7	MZT1_HUMAN	Q	75	ENSP00000367049:K75Q	ENSP00000367049:K75Q	K	-	1	0	MZT1	72191093	1.000000	0.71417	0.977000	0.42913	0.988000	0.76386	7.503000	0.81632	2.174000	0.68829	0.482000	0.46254	AAG		0.358	MZT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045249.1	NM_001071775		13	170	0	0	0	0.020292	0	13	170					G	73293092	T	G	73293092	3	3	196	1	0	0	0	0	1	0	0	0	1731	1792	62	5	33	5	C13orf37	13	73293092	Missense_Mutation	SNP	T	TCGA-HC-7077-01A-11D-1961-08	852388	73293092	41876786	45	9108											
KIAA0247	9766	broad.mit.edu	37	chr14	70125381	70125381	+	Frame_Shift_Del	DEL	C	C	-																															tccgtgggacatggagtgttCcttccgctagtgatcctttg																										TCGA-HC-7077-01A-11D-1961-08	TCGA-HC-7077-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd03be72-06ff-46b7-920e-533ae0988028	c7014407-f794-4174-bf47-38a2745c06b8	g.chr14:70125381delC	ENST00000342745.4	+	2	385	c.72delC	c.(70-72)ttcfs	p.F24fs		NM_014734.3	NP_055549.1	Q92537	K0247_HUMAN	KIAA0247	24						integral component of membrane (GO:0016021)				endometrium(1)|kidney(1)|lung(4)|ovary(3)|upper_aerodigestive_tract(1)	10				all cancers(60;0.00155)|BRCA - Breast invasive adenocarcinoma(234;0.0164)|OV - Ovarian serous cystadenocarcinoma(108;0.0196)		ATGGAGTGTTCCTTCCGCTAG	0.493																																						ENST00000342745.4																			0				endometrium(1)|kidney(1)|lung(4)|ovary(3)|upper_aerodigestive_tract(1)	10						c.(70-72)ttfs		KIAA0247							228	173	192					14																	70125381		2203	4300	6503	SO:0001589	frameshift_variant	9766					integral to membrane		g.chr14:70125381delC	D87434	CCDS9796.1	14q24.1	2012-11-29			ENSG00000100647	ENSG00000100647			19956	protein-coding gene	gene with protein product						9039502	Standard	NM_014734		Approved		uc001xlk.3	Q92537	OTTHUMG00000171234	ENST00000342745.4:c.72delC	14.37:g.70125381delC	ENSP00000344424:p.Phe24fs						p.F24fs	NM_014734.3	NP_055549.1	Q92537	K0247_HUMAN		all cancers(60;0.00155)|BRCA - Breast invasive adenocarcinoma(234;0.0164)|OV - Ovarian serous cystadenocarcinoma(108;0.0196)	2	385	+			24						Frame_Shift_Del	DEL	ENST00000342745.4	37	c.72delC	CCDS9796.1																																																																																				0.493	KIAA0247-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412453.1	NM_014734		23	122						23	122	---	---	---	---	-	70125381	C	-	70125381	7	5	196	1	0	1	0	1	0	0	0	0	8165	854	30	0	74	0	KIAA0247	14	70125381	Frame_Shift_Del	DEL	C	TCGA-HC-7077-01A-11D-1961-08		70125381	37224159	46	9109											
SLC12A6	9990	broad.mit.edu	37	chr15	34553159	34553159	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	caaatttttatcaaaatattCatctccttcttcataattgg	13	18	2	8	0	5	0	3	0	2	0	6	0	5	0	1	1	0	0	1	1	6	9	rs199747285		TCGA-HC-7077-01A-11D-1961-08	TCGA-HC-7077-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd03be72-06ff-46b7-920e-533ae0988028	c7014407-f794-4174-bf47-38a2745c06b8	g.chr15:34553159C>T	ENST00000354181.3	-	4	871	c.379G>A	c.(379-381)Gaa>Aaa	p.E127K	SLC12A6_ENST00000560164.1_5'UTR|SLC12A6_ENST00000558667.1_Missense_Mutation_p.E127K|SLC12A6_ENST00000397702.2_Missense_Mutation_p.E68K|SLC12A6_ENST00000558589.1_Missense_Mutation_p.E118K|SLC12A6_ENST00000458406.2_Missense_Mutation_p.E68K|SLC12A6_ENST00000560611.1_Missense_Mutation_p.E127K|SLC12A6_ENST00000451844.2_5'UTR|SLC12A6_ENST00000290209.5_Missense_Mutation_p.E76K|SLC12A6_ENST00000397707.2_Missense_Mutation_p.E112K			Q9UHW9	S12A6_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 6	127					angiogenesis (GO:0001525)|cellular hypotonic response (GO:0071476)|cellular hypotonic salinity response (GO:0071477)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|rubidium ion transport (GO:0035826)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	potassium ion transmembrane transporter activity (GO:0015079)|potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)|rubidium ion transmembrane transporter activity (GO:0035827)	p.E118K(1)|p.E76K(1)		central_nervous_system(5)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|skin(3)	45		all_lung(180;2.78e-08)		all cancers(64;3.43e-17)|GBM - Glioblastoma multiforme(113;2.6e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0301)	Potassium Chloride(DB00761)	TCAAAATATTCATCTCCTTCT	0.333																																						ENST00000354181.3																			2	Substitution - Missense(2)	p.E118K(1)|p.E76K(1)	cervix(2)	central_nervous_system(5)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|skin(3)	45						c.(379-381)Gaa>Aaa		solute carrier family 12 (potassium/chloride transporter), member 6	Potassium Chloride(DB00761)						65	71	69					15																	34553159		2201	4298	6499	SO:0001583	missense	9990				angiogenesis|cellular hypotonic salinity response|potassium ion transport|sodium ion transport	basolateral plasma membrane|integral to membrane	potassium:chloride symporter activity	g.chr15:34553159C>T	AF108831	CCDS10036.1, CCDS42010.1, CCDS42011.1, CCDS42012.1, CCDS58352.1	15q13	2014-09-17	2013-07-18		ENSG00000140199	ENSG00000140199		"Solute carriers"	10914	protein-coding gene	gene with protein product		604878	"agenesis of corpus callosum and peripheral neuropathy (Andermann syndrome)"	KCC3, ACCPN		10187864, 10347194	Standard	NM_133647		Approved		uc001zhw.3	Q9UHW9	OTTHUMG00000129441	ENST00000354181.3:c.379G>A	15.37:g.34553159C>T	ENSP00000346112:p.Glu127Lys					SLC12A6_ENST00000558667.1_Missense_Mutation_p.E127K|SLC12A6_ENST00000458406.2_Missense_Mutation_p.E68K|SLC12A6_ENST00000397702.2_Missense_Mutation_p.E68K|SLC12A6_ENST00000397707.2_Missense_Mutation_p.E112K|SLC12A6_ENST00000290209.5_Missense_Mutation_p.E76K|SLC12A6_ENST00000451844.2_5'UTR|SLC12A6_ENST00000560611.1_Missense_Mutation_p.E127K|SLC12A6_ENST00000560164.1_5'UTR|SLC12A6_ENST00000558589.1_Missense_Mutation_p.E118K	p.E127K			Q9UHW9	S12A6_HUMAN		all cancers(64;3.43e-17)|GBM - Glioblastoma multiforme(113;2.6e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0301)	4	871	-		all_lung(180;2.78e-08)	127					A0AV76|Q2VI00|Q7Z2E7|Q7Z4G5|Q8TDD4|Q9UFR2|Q9Y642|Q9Y665	Missense_Mutation	SNP	ENST00000354181.3	37	c.379G>A	CCDS58352.1	.	.	.	.	.	.	.	.	.	.	C	16.37	3.103382	0.56291	.	.	ENSG00000140199	ENST00000290209;ENST00000397707;ENST00000354181;ENST00000397702;ENST00000458406	D;D;D;D	0.83335	-1.71;-1.71;-1.71;-1.71	4.87	4.87	0.63330	.	0.205869	0.41500	D	0.000869	T	0.72581	0.3478	N	0.19112	0.55	0.80722	D	1	B;P;B	0.37548	0.058;0.599;0.071	B;B;B	0.38327	0.098;0.271;0.065	T	0.71069	-0.4699	10	0.23302	T	0.38	.	15.0441	0.71813	0.0:1.0:0.0:0.0	.	112;127;76	Q9UHW9-3;Q9UHW9;A0AV76	.;S12A6_HUMAN;.	K	76;112;118;68;68	ENSP00000290209:E76K;ENSP00000380819:E112K;ENSP00000380814:E68K;ENSP00000387725:E68K	ENSP00000290209:E76K	E	-	1	0	SLC12A6	32340451	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.199000	0.51043	2.530000	0.85305	0.563000	0.77884	GAA		0.333	SLC12A6-003	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000417991.1	NM_005135		8	64	0	0	0	0.006214	0	8	64					T	34553159	C	T	34553159	3	4	196	1	0	0	0	0	1	0	0	0	14387	835	29	3	3165	3	SLC12A6	15	34553159	Missense_Mutation	SNP	C	TCGA-HC-7077-01A-11D-1961-08		34553159	67978233	47	9110											
FBN1	2200	broad.mit.edu	37	chr15	48707834	48707834	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctgcgcagagccacattcAttgatgtcttggcatcctcc	7	11	9	14	1	2	2	1	1	1	1	4	2	4	2	4	1	2	2	4	1	0	3	rs143055643	byFrequency	TCGA-HC-7077-01A-11D-1961-08	TCGA-HC-7077-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd03be72-06ff-46b7-920e-533ae0988028	c7014407-f794-4174-bf47-38a2745c06b8	g.chr15:48707834A>G	ENST00000316623.5	-	64	8405	c.7950T>C	c.(7948-7950)aaT>aaC	p.N2650N	FBN1_ENST00000561429.1_5'UTR	NM_000138.4	NP_000129	P35555	FBN1_HUMAN	fibrillin 1	2650	EGF-like 47; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|kidney development (GO:0001822)|sequestering of BMP in extracellular matrix (GO:0035582)|sequestering of TGFbeta in extracellular matrix (GO:0035583)|skeletal system development (GO:0001501)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		AGCCACATTCATTGATGTCTT	0.582													A|||	5	0.000998403	0.0023	0.0014	5008	,	,		17224	0.001		0	False		,,,				2504	0					ENST00000316623.5																			0				NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139						c.(7948-7950)aaT>aaC		fibrillin 1		A		12,4384	19.1+/-41.9	0,12,2186	113	99	104		7950	-9.3	0.5	15	dbSNP_134	104	0,8592		0,0,4296	no	coding-synonymous	FBN1	NM_000138.4		0,12,6482	GG,GA,AA		0.0,0.273,0.0924		2650/2872	48707834	12,12976	2198	4296	6494	SO:0001819	synonymous_variant	2200				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding	g.chr15:48707834A>G	X63556	CCDS32232.1	15q21.1	2014-09-17	2006-04-25			ENSG00000166147			3603	protein-coding gene	gene with protein product	"Marfan syndrome"	134797	"fibrillin 1 (Marfan syndrome)"	FBN, MFS1, WMS		10036187, 12525539	Standard	NM_000138		Approved	MASS, OCTD, SGS	uc001zwx.2	P35555		ENST00000316623.5:c.7950T>C	15.37:g.48707834A>G						FBN1_ENST00000561429.1_5'UTR	p.N2650N	NM_000138.4	NP_000129.3	P35555	FBN1_HUMAN		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)	64	8405	-		all_lung(180;0.00279)	2650			EGF-like 47; calcium-binding.		B2RUU0|D2JYH6|Q15972|Q75N87	Silent	SNP	ENST00000316623.5	37	c.7950T>C	CCDS32232.1																																																																																				0.582	FBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417355.1			47	110	0	0	0	0.01441	0	47	110					G	48707834	A	G	48707834	2	3	196	1	0	0	0	0	0	0	0	1	5702	214	8	4		4	FBN1	15	48707834	Silent	SNP	A	TCGA-HC-7077-01A-11D-1961-08	14154675	48707834	53823558	48	9111											
CYP19A1	1588	broad.mit.edu	37	chr15	51507272	51507272	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttgataaattcttaccaataAcagtctggatttcctttatt	12	18	4	7	0	2	1	0	1	2	0	3	2	3	2	2	1	2	0	2	1	6	9			TCGA-HC-7077-01A-11D-1961-08	TCGA-HC-7077-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd03be72-06ff-46b7-920e-533ae0988028	c7014407-f794-4174-bf47-38a2745c06b8	g.chr15:51507272A>G	ENST00000396402.1	-	8	1169	c.1016T>C	c.(1015-1017)gTt>gCt	p.V339A	RP11-108K3.1_ENST00000559909.1_lincRNA|CYP19A1_ENST00000260433.2_Missense_Mutation_p.V339A|CYP19A1_ENST00000559878.1_Missense_Mutation_p.V339A|CYP19A1_ENST00000396404.4_Missense_Mutation_p.V339A	NM_000103.3	NP_000094.2	P11511	CP19A_HUMAN	cytochrome P450, family 19, subfamily A, polypeptide 1	339					androgen metabolic process (GO:0008209)|estrogen biosynthetic process (GO:0006703)|prostate gland growth (GO:0060736)|small molecule metabolic process (GO:0044281)|steroid biosynthetic process (GO:0006694)|steroid metabolic process (GO:0008202)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|membrane (GO:0016020)	aromatase activity (GO:0070330)|electron carrier activity (GO:0009055)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen (GO:0016712)|oxygen binding (GO:0019825)			endometrium(1)|kidney(4)|large_intestine(9)|lung(11)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	33				all cancers(107;0.000372)|GBM - Glioblastoma multiforme(94;0.0128)	Aminoglutethimide(DB00357)|Anastrozole(DB01217)|Betamethasone(DB00443)|Bifonazole(DB04794)|Buserelin(DB06719)|Carbimazole(DB00389)|Chlorphenesin(DB00856)|Clomifene(DB00882)|Clotrimazole(DB00257)|Cyproterone acetate(DB04839)|Danazol(DB01406)|Dexamethasone(DB01234)|Diethylstilbestrol(DB00255)|Dinoprostone(DB00917)|Drostanolone(DB00858)|Econazole(DB01127)|Edetic Acid(DB00974)|Etomidate(DB00292)|Exemestane(DB00990)|Ketoconazole(DB01026)|Letrozole(DB01006)|Levomethadyl Acetate(DB01227)|Levonorgestrel(DB00367)|Mefloquine(DB00358)|Melatonin(DB01065)|Methadone(DB00333)|Methyltestosterone(DB06710)|Miconazole(DB01110)|Nandrolone decanoate(DB08804)|Nandrolone phenpropionate(DB00984)|Nicotine(DB00184)|Paclitaxel(DB01229)|Raloxifene(DB00481)|Sulfathiazole(DB06147)|Tamoxifen(DB00675)|Terbinafine(DB00857)|Testolactone(DB00894)|Testosterone(DB00624)|Tioconazole(DB01007)|Trastuzumab(DB00072)	CTTACCAATAACAGTCTGGAT	0.323																																					Melanoma(142;1016 1807 39614 48966 51721)	ENST00000396402.1																			0				endometrium(1)|kidney(4)|large_intestine(9)|lung(11)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	33						c.(1015-1017)gTt>gCt		cytochrome P450, family 19, subfamily A, polypeptide 1	Aminoglutethimide(DB00357)|Anastrozole(DB01217)|Conjugated Estrogens(DB00286)|Danazol(DB01406)|Diethylstilbestrol(DB00255)|Exemestane(DB00990)|Letrozole(DB01006)|Testolactone(DB00894)|Testosterone(DB00624)						55	55	55					15																	51507272		2196	4293	6489	SO:0001583	missense	0				estrogen biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|membrane fraction	aromatase activity|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity	g.chr15:51507272A>G	D14473	CCDS10139.1	15q21	2009-01-26	2003-02-14	2003-02-28	ENSG00000137869	ENSG00000137869		"Cytochrome P450s"	2594	protein-coding gene	gene with protein product		107910	"cytochrome P450, subfamily XIX (aromatization of androgens)"	CYP19		8477708	Standard	NM_031226		Approved	ARO, P-450AROM, CPV1, ARO1, CYAR, aromatase	uc001zza.4	P11511	OTTHUMG00000131747	ENST00000396402.1:c.1016T>C	15.37:g.51507272A>G	ENSP00000379683:p.Val339Ala					CYP19A1_ENST00000396404.4_Missense_Mutation_p.V339A|CYP19A1_ENST00000260433.2_Missense_Mutation_p.V339A|RP11-108K3.1_ENST00000559909.1_lincRNA|CYP19A1_ENST00000559878.1_Missense_Mutation_p.V339A	p.V339A	NM_000103.3	NP_000094.2	P11511	CP19A_HUMAN		all cancers(107;0.000372)|GBM - Glioblastoma multiforme(94;0.0128)	8	1169	-			339					Q16731|Q3B764|Q58FA0|Q8IYJ7	Missense_Mutation	SNP	ENST00000396402.1	37	c.1016T>C	CCDS10139.1	.	.	.	.	.	.	.	.	.	.	A	16.64	3.178639	0.57692	.	.	ENSG00000137869	ENST00000396402;ENST00000260433;ENST00000396404;ENST00000420301;ENST00000439712	T;T;T;T	0.71461	-0.57;-0.57;-0.57;-0.57	5.93	4.75	0.60458	.	0.168698	0.52532	D	0.000061	T	0.70316	0.3210	M	0.70903	2.155	0.54753	D	0.999986	B	0.15473	0.013	B	0.28305	0.088	T	0.70160	-0.4948	10	0.54805	T	0.06	-18.1418	11.3859	0.49785	0.8647:0.0:0.0:0.1353	.	339	P11511	CP19A_HUMAN	A	339	ENSP00000379683:V339A;ENSP00000260433:V339A;ENSP00000379685:V339A;ENSP00000390614:V339A	ENSP00000260433:V339A	V	-	2	0	CYP19A1	49294564	0.994000	0.37717	0.931000	0.37212	0.831000	0.47069	5.454000	0.66651	2.281000	0.76405	0.533000	0.62120	GTT		0.323	CYP19A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254669.1			10	23	0	0	0	0.008291	0	10	23					G	51507272	A	G	51507272	3	3	196	1	0	0	0	0	1	0	0	0	4148	43	2	4	507	4	CYP19A1	15	51507272	Missense_Mutation	SNP	A	TCGA-HC-7077-01A-11D-1961-08	2799438	51507272	51024120	49	9112											
MAZ	4150	broad.mit.edu	37	chr16	29821006	29821006	+	Intron	DEL	G	G	-																															ggccacatgcagacccatctGgggggggccgccccccctgt																										TCGA-HC-7077-01A-11D-1961-08	TCGA-HC-7077-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd03be72-06ff-46b7-920e-533ae0988028	c7014407-f794-4174-bf47-38a2745c06b8	g.chr16:29821006delG	ENST00000322945.6	+	5	1444				PRRT2_ENST00000358758.7_5'Flank|PRRT2_ENST00000300797.6_5'Flank|MAZ_ENST00000566906.2_Intron|AC009133.14_ENST00000563806.1_RNA|AC009133.15_ENST00000566537.1_RNA|MAZ_ENST00000563402.1_Intron|MAZ_ENST00000568544.1_Intron|MAZ_ENST00000219782.6_Frame_Shift_Del_p.L475fs|MAZ_ENST00000545521.1_Intron|PRRT2_ENST00000567659.1_5'Flank|AC009133.20_ENST00000569039.1_RNA|MAZ_ENST00000568282.1_Frame_Shift_Del_p.L76fs|AC009133.14_ENST00000569981.1_RNA|MAZ_ENST00000562337.1_Intron	NM_002383.2	NP_002374.2	P56270	MAZ_HUMAN	MYC-associated zinc finger protein (purine-binding transcription factor)						positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|termination of RNA polymerase II transcription (GO:0006369)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)	p.A478fs*>16(1)		endometrium(3)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	10						AGACCCATCTGGGGGGGGCCG	0.741																																					Colon(72;875 1167 15364 30899 37091)	ENST00000219782.6																			1	Deletion - Frameshift(1)	p.A478fs*>16(1)	ovary(1)	endometrium(3)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	10						c.(1423-1425)ctfs		MYC-associated zinc finger protein (purine-binding transcription factor)							5	7	6					16																	29821006		1794	3965	5759	SO:0001627	intron_variant	4150				regulation of transcription, DNA-dependent|termination of RNA polymerase II transcription|transcription initiation from RNA polymerase II promoter	nucleus	DNA binding|protein binding|RNA binding|zinc ion binding	g.chr16:29821006delG	M93339	CCDS42143.1, CCDS42144.1, CCDS61902.1, CCDS61903.1	16p11.2	2013-01-08			ENSG00000103495	ENSG00000103495		"Zinc fingers, C2H2-type"	6914	protein-coding gene	gene with protein product		600999				1567856, 1502157	Standard	NM_001276275		Approved	ZF87, Pur-1, Zif87, ZNF801	uc002dtx.4	P56270	OTTHUMG00000132119	ENST00000322945.6:c.1280-392G>-	16.37:g.29821006delG						AC009133.14_ENST00000563806.1_RNA|MAZ_ENST00000563402.1_Intron|MAZ_ENST00000562337.1_Intron|MAZ_ENST00000568282.1_Frame_Shift_Del_p.L76fs|AC009133.14_ENST00000569981.1_RNA|MAZ_ENST00000545521.1_Intron|MAZ_ENST00000566906.2_Intron|AC009133.20_ENST00000569039.1_RNA|MAZ_ENST00000322945.6_Intron|MAZ_ENST00000568544.1_Intron	p.L475fs	NM_001042539.1	NP_001036004.1	P56270	MAZ_HUMAN			5	1531	+			213					A8QJL9|C6G496|G5E927|H3BQD6|Q15703|Q8NFN7|Q99443	Frame_Shift_Del	DEL	ENST00000322945.6	37	c.1425delG	CCDS42143.1																																																																																				0.741	MAZ-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000435536.1	NM_002383		7	13						7	13	---	---	---	---	-	29821006	G	-	29821006	6	5	196	0	1	1	0	1	0	0	0	0	9340	1335	47	0		0	MAZ	16	29821006	Intron	DEL	G	TCGA-HC-7077-01A-11D-1961-08		29821006	60533747	50	9113											
CDH5	1003	broad.mit.edu	37	chr16	66431906	66431906	+	Frame_Shift_Del	DEL	C	C	-																															aacccccacaggaaaagaatCcattgtgcaagtccacattg																										TCGA-HC-7077-01A-11D-1961-08	TCGA-HC-7077-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd03be72-06ff-46b7-920e-533ae0988028	c7014407-f794-4174-bf47-38a2745c06b8	g.chr16:66431906delC	ENST00000341529.3	+	9	1530	c.1382delC	c.(1381-1383)tccfs	p.S461fs	CDH5_ENST00000539168.1_5'UTR	NM_001795.3	NP_001786.2	P33151	CADH5_HUMAN	cadherin 5, type 2 (vascular endothelium)	461	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|blood vessel maturation (GO:0001955)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|negative regulation of cell proliferation (GO:0008285)|regulation of establishment of cell polarity (GO:2000114)	cell junction (GO:0030054)|cell-cell junction (GO:0005911)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)|ion channel binding (GO:0044325)|receptor binding (GO:0005102)			central_nervous_system(1)|endometrium(3)|kidney(18)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	54		Ovarian(137;0.0955)		OV - Ovarian serous cystadenocarcinoma(108;0.107)	Lenalidomide(DB00480)	GGAAAAGAATCCATTGTGCAA	0.542																																						ENST00000341529.3																			0				central_nervous_system(1)|endometrium(3)|kidney(18)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	54						c.(1381-1383)tcfs		cadherin 5, type 2 (vascular endothelium)							133	128	130					16																	66431906		2201	4300	6501	SO:0001589	frameshift_variant	1003				adherens junction organization|cell junction assembly|homophilic cell adhesion|regulation of establishment of cell polarity	integral to membrane|membrane fraction	beta-catenin binding|calcium ion binding|ion channel binding|receptor binding	g.chr16:66431906delC	X79981	CCDS10804.1	16q22.1	2010-01-26	2008-07-25		ENSG00000179776	ENSG00000179776		"CD molecules", "Cadherins / Major cadherins"	1764	protein-coding gene	gene with protein product	"VE-cadherin"	601120	"cadherin 5, type 2, VE-cadherin (vascular epithelium)"			2059658	Standard	NM_001795		Approved	7B4, CD144	uc002eom.4	P33151	OTTHUMG00000137495	ENST00000341529.3:c.1382delC	16.37:g.66431906delC	ENSP00000344115:p.Ser461fs					CDH5_ENST00000539168.1_5'UTR	p.S461fs	NM_001795.3	NP_001786.2	P33151	CADH5_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.107)	9	1530	+		Ovarian(137;0.0955)	461			Cadherin 4.		Q4VAI5|Q4VAI6	Frame_Shift_Del	DEL	ENST00000341529.3	37	c.1382delC	CCDS10804.1																																																																																				0.542	CDH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268767.1	NM_001795		45	131						45	131	---	---	---	---	-	66431906	C	-	66431906	7	5	196	1	0	1	0	1	0	0	0	0	3113	855	30	0	1412	0	CDH5	16	66431906	Frame_Shift_Del	DEL	C	TCGA-HC-7077-01A-11D-1961-08	36610900	66431906	23922847	51	9114											
DPEP1	1800	broad.mit.edu	37	chr16	89703634	89703634	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtggtgaaggagctgaaccGtctgggggtcctcatcgact	7	10	15	9	2	2	2	1	2	1	0	4	4	3	3	2	4	2	1	2	4	2	0			TCGA-HC-7077-01A-11D-1961-08	TCGA-HC-7077-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd03be72-06ff-46b7-920e-533ae0988028	c7014407-f794-4174-bf47-38a2745c06b8	g.chr16:89703634G>A	ENST00000393092.3	+	7	905	c.614G>A	c.(613-615)cGt>cAt	p.R205H	DPEP1_ENST00000421184.1_Missense_Mutation_p.R205H|DPEP1_ENST00000261615.4_Missense_Mutation_p.R205H	NM_004413.3	NP_004404.1	P16444	DPEP1_HUMAN	dipeptidase 1 (renal)	205					antibiotic metabolic process (GO:0016999)|arachidonic acid metabolic process (GO:0019369)|cellular lactam catabolic process (GO:0072340)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|cellular response to nitric oxide (GO:0071732)|glutathione metabolic process (GO:0006749)|homocysteine metabolic process (GO:0050667)|leukotriene metabolic process (GO:0006691)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell migration (GO:0030336)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|apical part of cell (GO:0045177)|cell projection (GO:0042995)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|dipeptidyl-peptidase activity (GO:0008239)|GPI anchor binding (GO:0034235)|metallodipeptidase activity (GO:0070573)|metalloexopeptidase activity (GO:0008235)|modified amino acid binding (GO:0072341)|zinc ion binding (GO:0008270)			large_intestine(2)|lung(10)|prostate(1)|urinary_tract(1)	14		all_lung(18;0.0054)|all_hematologic(23;0.094)		BRCA - Breast invasive adenocarcinoma(80;0.0258)	Cilastatin(DB01597)	GAGCTGAACCGTCTGGGGGTC	0.662																																						ENST00000393092.3																			0				large_intestine(2)|lung(10)|prostate(1)|urinary_tract(1)	14						c.(613-615)cGt>cAt		dipeptidase 1 (renal)	Cilastatin(DB01597)						70	72	71					16																	89703634		2192	4294	6486	SO:0001583	missense	1800				proteolysis	anchored to membrane|apical plasma membrane|microvillus membrane	dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metalloexopeptidase activity|protein binding	g.chr16:89703634G>A		CCDS10982.1	16q24	2011-07-22			ENSG00000015413	ENSG00000015413	3.4.13.19		3002	protein-coding gene	gene with protein product		179780					Standard	NM_004413		Approved		uc002fnr.4	P16444	OTTHUMG00000138052	ENST00000393092.3:c.614G>A	16.37:g.89703634G>A	ENSP00000376807:p.Arg205His					DPEP1_ENST00000421184.1_Missense_Mutation_p.R205H|DPEP1_ENST00000261615.4_Missense_Mutation_p.R205H	p.R205H	NM_004413.3	NP_004404.1	P16444	DPEP1_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0258)	7	905	+		all_lung(18;0.0054)|all_hematologic(23;0.094)	205					D3DX80|Q96AK2	Missense_Mutation	SNP	ENST00000393092.3	37	c.614G>A	CCDS10982.1	.	.	.	.	.	.	.	.	.	.	G	24.9	4.579302	0.86645	.	.	ENSG00000015413	ENST00000421184;ENST00000393092;ENST00000261615	T;T;T	0.27557	1.66;1.66;1.66	5.2	5.2	0.72013	.	0.000000	0.85682	D	0.000000	T	0.68449	0.3002	H	0.95004	3.61	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.79004	-0.1980	10	0.87932	D	0	-25.9989	18.7402	0.91770	0.0:0.0:1.0:0.0	.	205	P16444	DPEP1_HUMAN	H	205	ENSP00000397313:R205H;ENSP00000376807:R205H;ENSP00000261615:R205H	ENSP00000261615:R205H	R	+	2	0	DPEP1	88231135	1.000000	0.71417	0.982000	0.44146	0.420000	0.31355	7.585000	0.82584	2.431000	0.82371	0.491000	0.48974	CGT		0.662	DPEP1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000423058.1	NM_001128141		10	58	0	0	0	0.008291	0	10	58					A	89703634	G	A	89703634	3	1	196	1	0	0	0	0	1	0	0	0	4713	1145	40	1	636	1	DPEP1	16	89703634	Missense_Mutation	SNP	G	TCGA-HC-7077-01A-11D-1961-08	23271728	89703634	651119	52	9115											
RPA1	6117	broad.mit.edu	37	chr17	1787221	1787221	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atgaggtcaaatccgagaacCtgggccaaggcgacaaggta	14	5	13	9	2	1	2	1	1	0	1	2	4	2	2	3	4	1	1	3	4	5	1			TCGA-HC-7077-01A-11D-1961-08	TCGA-HC-7077-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd03be72-06ff-46b7-920e-533ae0988028	c7014407-f794-4174-bf47-38a2745c06b8	g.chr17:1787221C>G	ENST00000254719.5	+	13	1467	c.1357C>G	c.(1357-1359)Ctg>Gtg	p.L453V		NM_002945.3	NP_002936.1	P27694	RFA1_HUMAN	replication protein A1, 70kDa	453					base-excision repair (GO:0006284)|DNA recombinase assembly (GO:0000730)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA-dependent DNA replication (GO:0006261)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|G1/S transition of mitotic cell cycle (GO:0000082)|hemopoiesis (GO:0030097)|homeostasis of number of cells within a tissue (GO:0048873)|in utero embryonic development (GO:0001701)|meiotic nuclear division (GO:0007126)|mismatch repair (GO:0006298)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|nucleotide-excision repair, DNA gap filling (GO:0006297)|positive regulation of cell proliferation (GO:0008284)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|DNA replication factor A complex (GO:0005662)|lateral element (GO:0000800)|male germ cell nucleus (GO:0001673)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	chromatin binding (GO:0003682)|damaged DNA binding (GO:0003684)|metal ion binding (GO:0046872)|single-stranded DNA binding (GO:0003697)			breast(1)|endometrium(3)|large_intestine(2)|lung(2)|ovary(2)	10						ATCCGAGAACCTGGGCCAAGG	0.493								Nucleotide excision repair (NER)																														ENST00000254719.5																			0				breast(1)|endometrium(3)|large_intestine(2)|lung(2)|ovary(2)	10						c.(1357-1359)Ctg>Gtg	Nucleotide excision repair (NER)	replication protein A1, 70kDa							132	106	115					17																	1787221		2203	4300	6503	SO:0001583	missense	6117				cell cycle checkpoint|DNA recombinase assembly|DNA strand elongation involved in DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	actin cytoskeleton|cytoplasm|DNA replication factor A complex|PML body	metal ion binding|protein binding|single-stranded DNA binding	g.chr17:1787221C>G	M63488	CCDS11014.1	17p13.3	2008-02-05	2002-08-29		ENSG00000132383	ENSG00000132383			10289	protein-coding gene	gene with protein product		179835	"replication protein A1 (70kD)"			8454588	Standard	NM_002945		Approved	REPA1, RPA70, HSSB, RF-A, RP-A	uc002fto.2	P27694	OTTHUMG00000090579	ENST00000254719.5:c.1357C>G	17.37:g.1787221C>G	ENSP00000254719:p.Leu453Val						p.L453V	NM_002945.3	NP_002936.1	P27694	RFA1_HUMAN			13	1467	+			453					A8K0Y9|Q59ES9	Missense_Mutation	SNP	ENST00000254719.5	37	c.1357C>G	CCDS11014.1	.	.	.	.	.	.	.	.	.	.	C	16.84	3.233452	0.58886	.	.	ENSG00000132383	ENST00000254719	T	0.56444	0.46	5.7	2.67	0.31697	Nucleic acid-binding, OB-fold-like (1);	0.000000	0.85682	D	0.000000	T	0.47002	0.1422	M	0.73962	2.25	0.80722	D	1	P	0.38048	0.616	B	0.33339	0.162	T	0.35847	-0.9772	10	0.29301	T	0.29	-10.3456	10.0424	0.42166	0.0:0.7099:0.0:0.2901	.	453	P27694	RFA1_HUMAN	V	453	ENSP00000254719:L453V	ENSP00000254719:L453V	L	+	1	2	RPA1	1733971	1.000000	0.71417	0.999000	0.59377	0.882000	0.50991	1.764000	0.38471	0.359000	0.24239	0.655000	0.94253	CTG		0.493	RPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207118.2	NM_002945		31	66	0	0	0	0.015359	0	31	66					G	1787221	C	G	1787221	3	3	196	1	0	0	0	0	1	0	0	0	13536	680	24	5	1407	5	RPA1	17	1787221	Missense_Mutation	SNP	C	TCGA-HC-7077-01A-11D-1961-08		1787221	79407989	53	9116											
SYNRG	11276	broad.mit.edu	37	chr17	35945534	35945534	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tttttgctgctgttcaaatcGtttcctgaaggaaaaatgat	11	16	8	6	1	1	2	1	2	0	0	3	3	2	3	1	1	2	4	1	1	4	4			TCGA-HC-7077-01A-11D-1961-08	TCGA-HC-7077-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd03be72-06ff-46b7-920e-533ae0988028	c7014407-f794-4174-bf47-38a2745c06b8	g.chr17:35945534G>A	ENST00000339208.6	-	5	516	c.376C>T	c.(376-378)Cga>Tga	p.R126*	SYNRG_ENST00000394378.2_Nonsense_Mutation_p.R126*|SYNRG_ENST00000345615.4_Nonsense_Mutation_p.R126*|SYNRG_ENST00000591288.1_Nonsense_Mutation_p.R126*|SYNRG_ENST00000346661.4_Nonsense_Mutation_p.R126*|SYNRG_ENST00000585472.1_Nonsense_Mutation_p.R125*|SYNRG_ENST00000502449.2_Nonsense_Mutation_p.R126*	NM_001163544.1|NM_001163545.1|NM_007247.4	NP_001157016.1|NP_001157017.1|NP_009178.3	Q9UMZ2	SYNRG_HUMAN	synergin, gamma	126					endocytosis (GO:0006897)|intracellular protein transport (GO:0006886)	AP-1 adaptor complex (GO:0030121)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)	calcium ion binding (GO:0005509)			breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						TGTTCAAATCGTTTCCTGAAG	0.373																																						ENST00000339208.6																			0				breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						c.(376-378)Cga>Tga		synergin, gamma							102	106	105					17																	35945534		2202	4300	6502	SO:0001587	stop_gained	11276				endocytosis|intracellular protein transport	AP-1 adaptor complex	calcium ion binding	g.chr17:35945534G>A	AF169548	CCDS11321.1, CCDS11322.1, CCDS11322.2, CCDS54113.1, CCDS54114.1, CCDS59284.1, CCDS59285.1	17q12	2014-04-16	2009-07-20	2009-07-20	ENSG00000006114	ENSG00000275066			557	protein-coding gene	gene with protein product	"gamma-synergin", "adaptor-related protein complex 1 gamma subunit-binding protein 1"	607291	"AP1 gamma subunit binding protein 1"	AP1GBP1		10477754	Standard	XM_005256980		Approved	SYNG, MGC104959	uc010wdf.2	Q9UMZ2	OTTHUMG00000188473	ENST00000339208.6:c.376C>T	17.37:g.35945534G>A	ENSP00000343610:p.Arg126*					SYNRG_ENST00000591288.1_Nonsense_Mutation_p.R126*|SYNRG_ENST00000585472.1_Nonsense_Mutation_p.R125*|SYNRG_ENST00000502449.2_Nonsense_Mutation_p.R126*|SYNRG_ENST00000346661.4_Nonsense_Mutation_p.R126*|SYNRG_ENST00000394378.2_Nonsense_Mutation_p.R126*|SYNRG_ENST00000345615.4_Nonsense_Mutation_p.R126*	p.R126*	NM_001163544.1|NM_001163545.1|NM_007247.4	NP_001157016.1|NP_001157017.1|NP_009178.3	Q9UMZ2	SYNRG_HUMAN			5	516	-			126					A8MWU4|B7ZKZ2|B7ZKZ3|Q17RI2|Q5BKU5|Q6ZT17	Nonsense_Mutation	SNP	ENST00000339208.6	37	c.376C>T	CCDS11321.1	.	.	.	.	.	.	.	.	.	.	G	37	6.506632	0.97620	.	.	ENSG00000006114	ENST00000346661;ENST00000339208;ENST00000345615;ENST00000502449;ENST00000394378;ENST00000394379	.	.	.	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-10.0377	14.196	0.65672	0.0:0.0:0.7518:0.2481	.	.	.	.	X	126	.	ENSP00000343610:R126X	R	-	1	2	SYNRG	33019647	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	5.170000	0.64990	2.814000	0.96858	0.591000	0.81541	CGA		0.373	SYNRG-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256811.2	NM_007247		14	103	0	0	0	0.00499	0	14	103					A	35945534	G	A	35945534	4	1	196	1	0	0	0	0	0	1	0	0	15457	1153	40	1	3713	1	SYNRG	17	35945534	Nonsense_Mutation	SNP	G	TCGA-HC-7077-01A-11D-1961-08	34158313	35945534	45249676	54	9117											
DNAH17	9489	broad.mit.edu	37	chr17	76421442	76421442	+	IGR	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cttaccttccatgaagagtcCgtacacgtaggagccctctc	9	10	8	14	2	1	2	0	1	1	1	4	3	3	3	4	1	3	2	4	1	4	4			TCGA-HC-7077-01A-11D-1961-08	TCGA-HC-7077-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd03be72-06ff-46b7-920e-533ae0988028	c7014407-f794-4174-bf47-38a2745c06b8	g.chr17:76421442C>T	ENST00000262764.6	+	0	2201				DNAH17_ENST00000585328.1_Missense_Mutation_p.G4371R|DNAH17_ENST00000389840.5_Missense_Mutation_p.G4399R|AC061992.1_ENST00000600087.1_5'Flank|DNAH17_ENST00000586052.1_5'UTR	NM_024419.3	NP_077733.3	Q32NB8	PGPS1_HUMAN	phosphatidylglycerophosphate synthase 1						cardiolipin biosynthetic process (GO:0032049)|diacylglycerol metabolic process (GO:0046339)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylglycerol biosynthetic process (GO:0006655)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|CDP-diacylglycerol-glycerol-3-phosphate 3-phosphatidyltransferase activity (GO:0008444)			cervix(2)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)|urinary_tract(1)	10			BRCA - Breast invasive adenocarcinoma(99;0.00144)|OV - Ovarian serous cystadenocarcinoma(97;0.031)			ATGAAGAGTCCGTACACGTAG	0.532																																					Esophageal Squamous(45;182 1126 10685 43198)	ENST00000389840.5																			0				NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116						c.(13195-13197)Gga>Aga		dynein, axonemal, heavy chain 17							99	99	99					17																	76421442		2203	4300	6503	SO:0001628	intergenic_variant	8632							g.chr17:76421442C>T		CCDS42391.1	17q25.3	2006-02-09							30029	protein-coding gene	gene with protein product		614942				9880566	Standard	XR_243691		Approved	DKFZP762M186	uc002jvm.3	Q32NB8			17.37:g.76421442C>T						DNAH17_ENST00000585328.1_Missense_Mutation_p.G4371R|DNAH17_ENST00000586052.1_5'UTR	p.G4399R					BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)		80	13319	-								B7ZA32|Q8IYK9|Q8TA85|Q96A75|Q9H7G9|Q9NPW7	Missense_Mutation	SNP	ENST00000262764.6	37	c.13195G>A	CCDS42391.1	.	.	.	.	.	.	.	.	.	.	C	26.8	4.769699	0.90020	.	.	ENSG00000187775	ENST00000300671;ENST00000389840	T	0.51071	0.72	4.85	4.85	0.62838	.	0.000000	0.56097	D	0.000022	D	0.84047	0.5386	H	0.99847	4.84	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.91988	0.5600	10	0.87932	D	0	.	18.1663	0.89729	0.0:1.0:0.0:0.0	.	4371	E7EUM8	.	R	4371;4399	ENSP00000374490:G4399R	ENSP00000300671:G4371R	G	-	1	0	DNAH17	73933037	1.000000	0.71417	1.000000	0.80357	0.797000	0.45037	7.488000	0.81441	2.505000	0.84491	0.591000	0.81541	GGA		0.532	PGS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437301.1	NM_024419		11	134	0	0	0	0.010729	0	11	134					T	76421442	C	T	76421442	1	4	196	0	1	0	0	0	0	0	0	0	4601	661	23	2		2	DNAH17	17	76421442	IGR	SNP	C	TCGA-HC-7077-01A-11D-1961-08	40475908	76421442	4773768	55	9118											
SBNO2	22904	broad.mit.edu	37	chr19	1113561	1113561	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acccgctgggggccgcccagCtggtcgatgagctcgtccag	5	6	15	15	4	0	1	0	1	0	0	3	2	1	1	4	3	2	3	4	3	0	0			TCGA-HC-7077-01A-11D-1961-08	TCGA-HC-7077-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd03be72-06ff-46b7-920e-533ae0988028	c7014407-f794-4174-bf47-38a2745c06b8	g.chr19:1113561C>T	ENST00000361757.3	-	19	2457	c.2220G>A	c.(2218-2220)caG>caA	p.Q740Q	SBNO2_ENST00000587024.1_Silent_p.Q730Q|SBNO2_ENST00000438103.2_Silent_p.Q683Q	NM_014963.2	NP_055778.2	Q9Y2G9	SBNO2_HUMAN	strawberry notch homolog 2 (Drosophila)	740					bone mineralization (GO:0030282)|bone trabecula morphogenesis (GO:0061430)|macrophage activation involved in immune response (GO:0002281)|negative regulation of transcription, DNA-templated (GO:0045892)|osteoclast fusion (GO:0072675)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of inflammatory response (GO:0050727)|transcription, DNA-templated (GO:0006351)					NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGCCGCCCAGCTGGTCGATGA	0.697																																						ENST00000361757.3																			0				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						c.(2218-2220)caG>caA		strawberry notch homolog 2 (Drosophila)							15	21	19					19																	1113561		1925	4105	6030	SO:0001819	synonymous_variant	22904				macrophage activation involved in immune response|negative regulation of transcription, DNA-dependent|regulation of inflammatory response|transcription, DNA-dependent			g.chr19:1113561C>T	AK074102	CCDS45894.1, CCDS45895.1	19p13.3	2008-02-05	2006-10-06	2006-10-06		ENSG00000064932			29158	protein-coding gene	gene with protein product		615729	"KIAA0963"	KIAA0963		10231032	Standard	NM_014963		Approved	FLJ00173, Stno, Sno	uc002lrk.4	Q9Y2G9		ENST00000361757.3:c.2220G>A	19.37:g.1113561C>T						SBNO2_ENST00000587024.1_Silent_p.Q730Q|SBNO2_ENST00000438103.2_Silent_p.Q683Q	p.Q740Q	NM_014963.2	NP_055778.2	Q9Y2G9	SBNO2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	19	2457	-		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)	740					A8K8P2|B3KWJ1|O75257|Q3KQX0|Q8TEM0	Silent	SNP	ENST00000361757.3	37	c.2220G>A	CCDS45894.1																																																																																				0.697	SBNO2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000458065.2	NM_014963		4	59	0	0	0	0.009096	0	4	59					T	1113561	C	T	1113561	2	4	196	1	0	0	0	0	0	0	0	1	13863	796	28	3		3	SBNO2	19	1113561	Silent	SNP	C	TCGA-HC-7077-01A-11D-1961-08		1113561	58015422	56	9119											
MUC16	94025	broad.mit.edu	37	chr19	9014619	9014619	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gctcagctcccagtatagctGctccctgtccactccagggc	6	9	9	17	0	1	0	1	0	0	0	5	0	5	0	4	1	3	5	4	1	2	2	rs569696248		TCGA-HC-7077-01A-11D-1961-08	TCGA-HC-7077-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd03be72-06ff-46b7-920e-533ae0988028	c7014407-f794-4174-bf47-38a2745c06b8	g.chr19:9014619G>C	ENST00000397910.4	-	31	38559	c.38356C>G	c.(38356-38358)Cag>Gag	p.Q12786E		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	12788	SEA 5. {ECO:0000255|PROSITE- ProRule:PRU00188}.			Missing (in Ref. 3; AAK74120). {ECO:0000305}.	cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CAGTATAGCTGCTCCCTGTCC	0.567																																						ENST00000397910.4																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(38356-38358)Cag>Gag		mucin 16, cell surface associated							110	87	94					19																	9014619		1867	4079	5946	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9014619G>C	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.38356C>G	19.37:g.9014619G>C	ENSP00000381008:p.Gln12786Glu						p.Q12786E	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			31	38559	-			12788	Missing (in Ref. 3; AAK74120).		SEA 5.		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.38356C>G	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	.	4.657	0.122077	0.08931	.	.	ENSG00000181143	ENST00000397910	T	0.37235	1.21	3.03	-5.37	0.02681	.	.	.	.	.	T	0.27731	0.0682	M	0.68952	2.095	.	.	.	B	0.16603	0.018	B	0.17722	0.019	T	0.44742	-0.9308	8	0.87932	D	0	.	0.2561	0.00212	0.2397:0.1604:0.2513:0.3485	.	12786	B5ME49	.	E	12786	ENSP00000381008:Q12786E	ENSP00000381008:Q12786E	Q	-	1	0	MUC16	8875619	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-2.410000	0.01040	-1.197000	0.02673	0.305000	0.20034	CAG		0.567	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		49	129	0	0	0	0.01441	0	49	129					C	9014619	G	C	9014619	3	2	196	1	0	0	0	0	1	0	0	0	9973	1328	46	5	5383	5	MUC16	19	9014619	Missense_Mutation	SNP	G	TCGA-HC-7077-01A-11D-1961-08	7901058	9014619	50114364	57	9120											
DHX34	9704	broad.mit.edu	37	chr19	47856825	47856825	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agacgctgaaggagcaccagGtggtggtagtggccggtgac	9	6	18	8	2	0	3	0	2	0	1	0	4	0	4	2	6	1	3	2	6	2	1			TCGA-HC-7077-01A-11D-1961-08	TCGA-HC-7077-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd03be72-06ff-46b7-920e-533ae0988028	c7014407-f794-4174-bf47-38a2745c06b8	g.chr19:47856825G>A	ENST00000328771.4	+	2	887	c.538G>A	c.(538-540)Gtg>Atg	p.V180M		NM_014681.5	NP_055496.2	Q14147	DHX34_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 34	180	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:2000623)|nuclear-transcribed mRNA catabolic process (GO:0000956)	membrane (GO:0016020)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(5)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		all cancers(93;7.16e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000489)|GBM - Glioblastoma multiforme(486;0.00413)|Epithelial(262;0.0132)		GGAGCACCAGGTGGTGGTAGT	0.662																																						ENST00000328771.4																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(5)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(538-540)Gtg>Atg		DEAH (Asp-Glu-Ala-His) box polypeptide 34							34	38	37					19																	47856825		2203	4299	6502	SO:0001583	missense	9704					intracellular	ATP binding|ATP-dependent helicase activity|RNA binding|zinc ion binding	g.chr19:47856825G>A	D50924	CCDS12700.1	19q13.3	2003-06-13	2003-06-13	2003-06-13	ENSG00000134815	ENSG00000134815		"DEAH-boxes"	16719	protein-coding gene	gene with protein product		615475	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 34"	DDX34		10708517, 8590280	Standard	NM_014681		Approved	KIAA0134	uc010xyn.2	Q14147	OTTHUMG00000149959	ENST00000328771.4:c.538G>A	19.37:g.47856825G>A	ENSP00000331907:p.Val180Met						p.V180M	NM_014681.5	NP_055496.2	Q14147	DHX34_HUMAN		all cancers(93;7.16e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000489)|GBM - Glioblastoma multiforme(486;0.00413)|Epithelial(262;0.0132)	2	887	+		all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)	180			Helicase ATP-binding.		B4DMY8	Missense_Mutation	SNP	ENST00000328771.4	37	c.538G>A	CCDS12700.1	.	.	.	.	.	.	.	.	.	.	G	26.2	4.716331	0.89205	.	.	ENSG00000134815	ENST00000328771;ENST00000257252	T	0.14893	2.47	5.26	5.26	0.73747	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.000000	0.47852	D	0.000215	T	0.56366	0.1980	H	0.95745	3.715	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.70876	-0.4753	10	0.72032	D	0.01	-25.0325	17.6312	0.88108	0.0:0.0:1.0:0.0	.	180;180	Q14147;B4E3G3	DHX34_HUMAN;.	M	180	ENSP00000331907:V180M	ENSP00000257252:V180M	V	+	1	0	DHX34	52548665	1.000000	0.71417	1.000000	0.80357	0.849000	0.48306	6.348000	0.73009	2.461000	0.83175	0.555000	0.69702	GTG		0.662	DHX34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314313.3	NM_014681		13	47	0	0	0	0.013537	0	13	47					A	47856825	G	A	47856825	3	1	196	1	0	0	0	0	1	0	0	0	4507	1261	44	3	540	3	DHX34	19	47856825	Missense_Mutation	SNP	G	TCGA-HC-7077-01A-11D-1961-08	38842206	47856825	11272158	58	9121											
C20orf106	200232	broad.mit.edu	37	chr20	55099979	55099979	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cccaggggaaggtgcaatacGgagagcactttcggattcgg	10	7	15	9	3	0	1	0	0	0	1	2	4	0	3	1	6	3	2	1	6	3	3			TCGA-HC-7077-01A-11D-1961-08	TCGA-HC-7077-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd03be72-06ff-46b7-920e-533ae0988028	c7014407-f794-4174-bf47-38a2745c06b8	g.chr20:55099979G>A	ENST00000371328.3	+	1	438	c.115G>A	c.(115-117)Gga>Aga	p.G39R	GCNT7_ENST00000243913.4_Intron|FAM209A_ENST00000481560.1_3'UTR	NM_001012971.3	NP_001012989.2	Q5JX71	F209A_HUMAN	family with sequence similarity 209, member A	39						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)											GGTGCAATACGGAGAGCACTT	0.517																																						ENST00000371328.3																			0											c.(115-117)Gga>Aga		family with sequence similarity 209, member A							158	143	148					20																	55099979		2203	4300	6503	SO:0001583	missense	200232							g.chr20:55099979G>A	AL109806	CCDS33493.1	20q13.31	2011-11-24	2011-11-24	2011-11-24	ENSG00000124103	ENSG00000124103			16100	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 106"	C20orf106			Standard	NM_001012971		Approved	dJ1153D9.3		Q5JX71	OTTHUMG00000032799	ENST00000371328.3:c.115G>A	20.37:g.55099979G>A	ENSP00000360379:p.Gly39Arg					GCNT7_ENST00000243913.4_Intron|FAM209A_ENST00000481560.1_3'UTR	p.G39R	NM_001012971.3	NP_001012989.2					1	438	+								Q05C43	Missense_Mutation	SNP	ENST00000371328.3	37	c.115G>A	CCDS33493.1	.	.	.	.	.	.	.	.	.	.	G	8.899	0.955979	0.18507	.	.	ENSG00000124103	ENST00000371328	T	0.18338	2.22	5.51	5.51	0.81932	.	0.000000	0.49305	D	0.000148	T	0.33440	0.0863	L	0.57536	1.79	0.37883	D	0.930445	D	0.89917	1.0	D	0.77004	0.989	T	0.10222	-1.0639	10	0.07325	T	0.83	-20.5806	14.8926	0.70620	0.0:0.0:1.0:0.0	.	39	Q5JX71	CT106_HUMAN	R	39	ENSP00000360379:G39R	ENSP00000360379:G39R	G	+	1	0	C20orf106	54533386	0.993000	0.37304	0.686000	0.30086	0.003000	0.03518	2.842000	0.48230	2.577000	0.86979	0.467000	0.42956	GGA		0.517	FAM209A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079815.2			8	112	0	0	0	0.008291	0	8	112					A	55099979	G	A	55099979	3	1	196	1	0	0	0	0	1	0	0	0	2076	1117	39	2	117	2	C20orf106	20	55099979	Missense_Mutation	SNP	G	TCGA-HC-7077-01A-11D-1961-08		55099979	7925541	59	9122											
KCNQ2	3785	broad.mit.edu	37	chr20	62038263	62038263	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cgggatggagatggacgtgtCgctgtcccgcaggttcccct	5	9	15	12	4	0	1	0	0	0	1	3	4	2	3	3	4	0	3	3	4	0	1			TCGA-HC-7077-01A-11D-1961-08	TCGA-HC-7077-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd03be72-06ff-46b7-920e-533ae0988028	c7014407-f794-4174-bf47-38a2745c06b8	g.chr20:62038263C>T	ENST00000359125.2	-	17	2527	c.2353G>A	c.(2353-2355)Gac>Aac	p.D785N	KCNQ2_ENST00000360480.3_Missense_Mutation_p.D757N|KCNQ2_ENST00000354587.3_Missense_Mutation_p.D793N|KCNQ2_ENST00000357249.2_Missense_Mutation_p.D767N|KCNQ2_ENST00000370224.1_Missense_Mutation_p.D793N|KCNQ2_ENST00000359689.1_Missense_Mutation_p.D785N|KCNQ2_ENST00000344462.4_Missense_Mutation_p.D754N	NM_172107.2	NP_742105.1	O43526	KCNQ2_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 2	785					axon guidance (GO:0007411)|nervous system development (GO:0007399)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)|transmission of nerve impulse (GO:0019226)	axon initial segment (GO:0043194)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	ankyrin binding (GO:0030506)|delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)			biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|liver(1)|lung(30)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65	all_cancers(38;1.24e-11)		BRCA - Breast invasive adenocarcinoma(10;1.04e-05)		Amitriptyline(DB00321)|Diclofenac(DB00586)|Ezogabine(DB04953)|Meclofenamic acid(DB00939)	ATGGACGTGTCGCTGTCCCGC	0.672																																						ENST00000354587.3																			0				biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|liver(1)|lung(30)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65						c.(2377-2379)Gac>Aac		potassium voltage-gated channel, KQT-like subfamily, member 2	Amitriptyline(DB00321)						47	31	36					20																	62038263		2192	4298	6490	SO:0001583	missense	3785				axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr20:62038263C>T	AF033348	CCDS13518.1, CCDS13519.1, CCDS13520.1, CCDS13521.1, CCDS46629.1	20q13.33	2012-07-05			ENSG00000075043	ENSG00000075043		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6296	protein-coding gene	gene with protein product		602235		EBN, EBN1		9425895, 16382104	Standard	NM_172107		Approved	Kv7.2, ENB1, BFNC, KCNA11, HNSPC	uc002yex.3	O43526	OTTHUMG00000033049	ENST00000359125.2:c.2353G>A	20.37:g.62038263C>T	ENSP00000352035:p.Asp785Asn					KCNQ2_ENST00000359125.2_Missense_Mutation_p.D785N|KCNQ2_ENST00000359689.1_Missense_Mutation_p.D785N|KCNQ2_ENST00000357249.2_Missense_Mutation_p.D767N|KCNQ2_ENST00000370224.1_Missense_Mutation_p.D793N|KCNQ2_ENST00000370226.1_Missense_Mutation_p.D755N|KCNQ2_ENST00000430658.1_Missense_Mutation_p.D754N|KCNQ2_ENST00000360480.3_Missense_Mutation_p.D757N|KCNQ2_ENST00000344462.3_Missense_Mutation_p.D781N	p.D793N			O43526	KCNQ2_HUMAN	BRCA - Breast invasive adenocarcinoma(10;1.04e-05)		17	2553	-	all_cancers(38;1.24e-11)		785					O43796|O75580|O95845|Q4VXP4|Q4VXR6|Q5VYT8|Q96J59|Q99454	Missense_Mutation	SNP	ENST00000359125.2	37	c.2377G>A	CCDS13520.1	.	.	.	.	.	.	.	.	.	.	C	35	5.595522	0.96602	.	.	ENSG00000075043	ENST00000357249;ENST00000359125;ENST00000370226;ENST00000354587;ENST00000359689;ENST00000430658;ENST00000360480;ENST00000344462;ENST00000370224	T;T;T;T;T;T;T;T;T	0.61274	0.12;0.12;0.12;0.12;0.12;0.12;0.12;0.12;0.12	4.95	4.95	0.65309	.	0.000000	0.85682	D	0.000000	T	0.72277	0.3440	L	0.52573	1.65	0.54753	D	0.99998	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;0.999;0.999;1.0	T	0.75274	-0.3375	10	0.72032	D	0.01	-0.678	18.1678	0.89734	0.0:1.0:0.0:0.0	.	757;767;754;785	O43526-3;O43526-2;O43526-4;O43526	.;.;.;KCNQ2_HUMAN	N	767;785;755;793;785;754;757;781;793	ENSP00000349789:D767N;ENSP00000352035:D785N;ENSP00000359246:D755N;ENSP00000346601:D793N;ENSP00000352718:D785N;ENSP00000399612:D754N;ENSP00000353668:D757N;ENSP00000339611:D781N;ENSP00000359244:D793N	ENSP00000339611:D781N	D	-	1	0	KCNQ2	61508707	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	5.693000	0.68264	2.305000	0.77605	0.491000	0.48974	GAC		0.672	KCNQ2-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000080353.1	NM_172109		10	23	0	0	0	0.006214	0	10	23					T	62038263	C	T	62038263	3	4	196	1	0	0	0	0	1	0	0	0	8083	884	31	2	269	2	KCNQ2	20	62038263	Missense_Mutation	SNP	C	TCGA-HC-7077-01A-11D-1961-08	6938284	62038263	987257	60	9123											
UBASH3A	53347	broad.mit.edu	37	chr21	43829625	43829625	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cggggcccctgctggaaaaaCttcaagagttctggagagag	11	7	14	9	1	2	2	1	0	1	2	2	5	2	4	2	4	2	2	2	4	3	2			TCGA-HC-7077-01A-11D-1961-08	TCGA-HC-7077-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd03be72-06ff-46b7-920e-533ae0988028	c7014407-f794-4174-bf47-38a2745c06b8	g.chr21:43829625C>T	ENST00000319294.6	+	3	293	c.262C>T	c.(262-264)Ctt>Ttt	p.L88F	UBASH3A_ENST00000450356.1_Missense_Mutation_p.L88F|UBASH3A_ENST00000291535.6_Missense_Mutation_p.L88F|UBASH3A_ENST00000398367.1_Missense_Mutation_p.L88F	NM_018961.3	NP_061834.1	P57075	UBS3A_HUMAN	ubiquitin associated and SH3 domain containing A	88					negative regulation of T cell receptor signaling pathway (GO:0050860)|regulation of cytokine production (GO:0001817)	cytosol (GO:0005829)|nucleus (GO:0005634)	catalytic activity (GO:0003824)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(9)|lung(12)|ovary(3)	28						GCTGGAAAAACTTCAAGAGTT	0.537																																						ENST00000319294.6																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(9)|lung(12)|ovary(3)	28						c.(262-264)Ctt>Ttt		ubiquitin associated and SH3 domain containing A							101	98	99					21																	43829625		2203	4300	6503	SO:0001583	missense	53347					cytosol|nucleus		g.chr21:43829625C>T	AJ277750	CCDS13687.1, CCDS33566.1, CCDS58791.1	21q22.3	2010-04-28	2010-04-28		ENSG00000160185	ENSG00000160185			12462	protein-coding gene	gene with protein product		605736				11281453	Standard	NM_018961		Approved	STS-2, TULA, CLIP4	uc002zbf.3	P57075	OTTHUMG00000086805	ENST00000319294.6:c.262C>T	21.37:g.43829625C>T	ENSP00000317327:p.Leu88Phe					UBASH3A_ENST00000291535.6_Missense_Mutation_p.L88F|UBASH3A_ENST00000398367.1_Missense_Mutation_p.L88F|UBASH3A_ENST00000450356.1_Missense_Mutation_p.L88F	p.L88F	NM_018961.3	NP_061834.1	P57075	UBS3A_HUMAN			3	293	+			88					G5E9E4|Q6HA34|Q6HA35|Q6ISI6|Q6ISK3|Q6ISS9	Missense_Mutation	SNP	ENST00000319294.6	37	c.262C>T	CCDS13687.1	.	.	.	.	.	.	.	.	.	.	C	17.26	3.344262	0.61073	.	.	ENSG00000160185	ENST00000291535;ENST00000450356;ENST00000319294;ENST00000398367	T;T;T;T	0.59638	0.25;1.85;1.85;0.25	5.74	5.74	0.90152	.	0.000000	0.47455	D	0.000222	T	0.80385	0.4613	M	0.84948	2.725	0.51482	D	0.999925	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.997	T	0.82536	-0.0408	10	0.87932	D	0	-18.9602	19.9694	0.97278	0.0:1.0:0.0:0.0	.	88;88;88	G5E9E4;P57075-2;P57075	.;.;UBS3A_HUMAN	F	88	ENSP00000291535:L88F;ENSP00000407179:L88F;ENSP00000317327:L88F;ENSP00000381408:L88F	ENSP00000291535:L88F	L	+	1	0	UBASH3A	42702694	1.000000	0.71417	0.079000	0.20413	0.004000	0.04260	4.594000	0.61041	2.723000	0.93209	0.644000	0.83932	CTT		0.537	UBASH3A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000195382.1	NM_001001895		4	112	0	0	0	0.009096	0	4	112					T	43829625	C	T	43829625	3	4	196	1	0	0	0	0	1	0	0	0	16836	565	20	3	272	3	UBASH3A	21	43829625	Missense_Mutation	SNP	C	TCGA-HC-7077-01A-11D-1961-08		43829625	4300270	61	9124											
WDR4	10785	broad.mit.edu	37	chr21	44283564	44283564	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acctaccacatctaacagcaTagacaggtgccccagctcta	13	7	6	15	0	2	1	0	0	2	1	2	1	2	1	4	1	5	2	4	1	4	4			TCGA-HC-7077-01A-11D-1961-08	TCGA-HC-7077-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd03be72-06ff-46b7-920e-533ae0988028	c7014407-f794-4174-bf47-38a2745c06b8	g.chr21:44283564T>C	ENST00000398208.2	-	4	498	c.439A>G	c.(439-441)Atg>Gtg	p.M147V	WDR4_ENST00000492742.1_5'UTR|WDR4_ENST00000330317.2_Missense_Mutation_p.M147V	NM_001260474.1|NM_001260475.1|NM_001260476.1|NM_018669.5	NP_001247403.1|NP_001247404.1|NP_001247405.1|NP_061139.2			WD repeat domain 4											haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)|ovary(2)	11				Colorectal(79;0.0165)|Lung(125;0.0484)|STAD - Stomach adenocarcinoma(101;0.0624)|COAD - Colon adenocarcinoma(84;0.128)|LUSC - Lung squamous cell carcinoma(216;0.244)		TCTAACAGCATAGACAGGTGC	0.612																																						ENST00000398208.2																			0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)|ovary(2)	11						c.(439-441)Atg>Gtg		WD repeat domain 4							150	123	132					21																	44283564		2203	4300	6503	SO:0001583	missense	10785				tRNA modification	cytoplasm|nucleoplasm	protein binding	g.chr21:44283564T>C	AJ243912	CCDS13691.1	21q22.3	2013-01-09			ENSG00000160193	ENSG00000160193		"WD repeat domain containing"	12756	protein-coding gene	gene with protein product	"TRM82 tRNA methyltransferase 82 homolog (S. cerevisiae)"	605924				12403464	Standard	NM_018669		Approved	TRM82, TRMT82	uc002zci.4	P57081	OTTHUMG00000086826	ENST00000398208.2:c.439A>G	21.37:g.44283564T>C	ENSP00000381266:p.Met147Val					WDR4_ENST00000330317.2_Missense_Mutation_p.M147V|WDR4_ENST00000492742.1_5'UTR	p.M147V	NM_001260474.1|NM_001260475.1|NM_001260476.1|NM_018669.5	NP_001247403.1|NP_001247404.1|NP_001247405.1|NP_061139.2	P57081	WDR4_HUMAN		Colorectal(79;0.0165)|Lung(125;0.0484)|STAD - Stomach adenocarcinoma(101;0.0624)|COAD - Colon adenocarcinoma(84;0.128)|LUSC - Lung squamous cell carcinoma(216;0.244)	4	498	-			147						Missense_Mutation	SNP	ENST00000398208.2	37	c.439A>G	CCDS13691.1	.	.	.	.	.	.	.	.	.	.	T	13.12	2.141816	0.37825	.	.	ENSG00000160193	ENST00000330317;ENST00000398208	T;T	0.28069	1.63;1.63	4.55	4.55	0.56014	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.053328	0.64402	D	0.000001	T	0.41488	0.1161	M	0.79343	2.45	0.41894	D	0.990383	B;B	0.34147	0.167;0.438	B;P	0.46339	0.169;0.513	T	0.28490	-1.0042	10	0.17369	T	0.5	-23.7953	8.4014	0.32588	0.0:0.0:0.1983:0.8017	.	147;147	P57081-2;P57081	.;WDR4_HUMAN	V	147	ENSP00000328671:M147V;ENSP00000381266:M147V	ENSP00000328671:M147V	M	-	1	0	WDR4	43156633	0.998000	0.40836	0.977000	0.42913	0.356000	0.29392	2.919000	0.48836	1.719000	0.51432	0.374000	0.22700	ATG		0.612	WDR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195479.1			22	59	0	0	0	0.01892	0	22	59					C	44283564	T	C	44283564	3	2	196	1	0	0	0	0	1	0	0	0	17290	1406	49	4	831	4	WDR4	21	44283564	Missense_Mutation	SNP	T	TCGA-HC-7077-01A-11D-1961-08	453939	44283564	3846331	62	9125											
PICK1	9463	broad.mit.edu	37	chr22	38455291	38455291	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cctgcagaaggatgctcagaAcctgatcgggatcagcattg	11	8	12	10	1	2	3	2	1	0	2	3	5	2	5	2	2	4	3	2	2	2	1			TCGA-HC-7077-01A-11D-1961-08	TCGA-HC-7077-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd03be72-06ff-46b7-920e-533ae0988028	c7014407-f794-4174-bf47-38a2745c06b8	g.chr22:38455291A>G	ENST00000404072.3	+	3	439	c.92A>G	c.(91-93)aAc>aGc	p.N31S	PICK1_ENST00000468288.1_3'UTR|PICK1_ENST00000356976.3_Missense_Mutation_p.N31S|RP5-1039K5.13_ENST00000445483.1_RNA	NM_001039583.1|NM_001039584.1	NP_001034672.1|NP_001034673.1	Q9NRD5	PICK1_HUMAN	protein interacting with PRKCA 1	31	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				ATP catabolic process (GO:0006200)|cellular response to decreased oxygen levels (GO:0036294)|cellular response to glucose starvation (GO:0042149)|dendritic spine maintenance (GO:0097062)|dendritic spine organization (GO:0097061)|DNA methylation involved in embryo development (GO:0043045)|DNA methylation involved in gamete generation (GO:0043046)|glial cell development (GO:0021782)|long term synaptic depression (GO:0060292)|monoamine transport (GO:0015844)|negative regulation of Arp2/3 complex-mediated actin nucleation (GO:0034316)|neuronal ion channel clustering (GO:0045161)|positive regulation of receptor internalization (GO:0002092)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein phosphorylation (GO:0006468)|protein targeting (GO:0006605)|receptor clustering (GO:0043113)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|endocytic vesicle membrane (GO:0030666)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|neuronal postsynaptic density (GO:0097481)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|synapse (GO:0045202)	actin filament binding (GO:0051015)|Arp2/3 complex binding (GO:0071933)|ATPase activity (GO:0016887)|enzyme binding (GO:0019899)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)|protein kinase C binding (GO:0005080)|receptor binding (GO:0005102)			cervix(1)|endometrium(3)|large_intestine(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	13	Melanoma(58;0.045)					GATGCTCAGAACCTGATCGGG	0.572																																						ENST00000404072.3																			0				cervix(1)|endometrium(3)|large_intestine(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	13						c.(91-93)aAc>aGc		protein interacting with PRKCA 1							110	76	88					22																	38455291		2201	4298	6499	SO:0001583	missense	9463				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|DNA methylation involved in embryo development|DNA methylation involved in gamete generation|monoamine transport|neuronal ion channel clustering|protein phosphorylation|receptor clustering|retrograde vesicle-mediated transport, Golgi to ER|synaptic transmission	cell junction|endocytic vesicle membrane|Golgi apparatus|perinuclear region of cytoplasm|presynaptic membrane	ATPase activity|metal ion binding|protein C-terminus binding|protein kinase C binding|receptor binding	g.chr22:38455291A>G	AL049654	CCDS13965.1	22q13.1	2006-02-14	2006-02-14	2006-02-14	ENSG00000100151	ENSG00000100151			9394	protein-coding gene	gene with protein product		605926	"protein kinase C, alpha binding protein", "protein interacting with PRKCA"	PRKCABP		10340301, 10591208	Standard	XM_006724377		Approved	dJ1039K5, MGC15204	uc003aus.3	Q9NRD5	OTTHUMG00000151159	ENST00000404072.3:c.92A>G	22.37:g.38455291A>G	ENSP00000385205:p.Asn31Ser					PICK1_ENST00000356976.3_Missense_Mutation_p.N31S|PICK1_ENST00000468288.1_3'UTR|RP5-1039K5.13_ENST00000445483.1_RNA	p.N31S	NM_001039583.1|NM_001039584.1	NP_001034672.1|NP_001034673.1	Q9NRD5	PICK1_HUMAN			3	439	+	Melanoma(58;0.045)		31			PDZ.		B3KS52|O95906	Missense_Mutation	SNP	ENST00000404072.3	37	c.92A>G	CCDS13965.1	.	.	.	.	.	.	.	.	.	.	A	22.5	4.303643	0.81136	.	.	ENSG00000100151	ENST00000445628;ENST00000404072;ENST00000424694;ENST00000437453;ENST00000356976;ENST00000435166	T;T;T;T;T	0.36878	1.23;1.23;1.23;1.23;1.23	4.89	4.89	0.63831	PDZ/DHR/GLGF (4);	0.000000	0.85682	D	0.000000	T	0.56949	0.2020	M	0.61703	1.905	0.80722	D	1	D	0.69078	0.997	D	0.80764	0.994	T	0.60429	-0.7265	10	0.62326	D	0.03	-38.9209	14.8239	0.70094	1.0:0.0:0.0:0.0	.	31	Q9NRD5	PICK1_HUMAN	S	31	ENSP00000385205:N31S;ENSP00000398141:N31S;ENSP00000410793:N31S;ENSP00000349465:N31S;ENSP00000397588:N31S	ENSP00000349465:N31S	N	+	2	0	PICK1	36785237	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.943000	0.92975	1.951000	0.56629	0.460000	0.39030	AAC		0.572	PICK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321569.2	NM_012407		4	7	0	0	0	0.014758	0	4	7					G	38455291	A	G	38455291	3	3	196	1	0	0	0	0	1	0	0	0	11881	43	2	4	98	4	PICK1	22	38455291	Missense_Mutation	SNP	A	TCGA-HC-7077-01A-11D-1961-08		38455291	12849275	63	9126											
A4GALT	53947	broad.mit.edu	37	chr22	43088924	43088924	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acattttcatggcctcgtgcGtcgtggggcagtagcgggca	6	10	15	10	4	1	0	1	0	0	0	3	0	1	0	1	4	2	3	1	4	1	3			TCGA-HC-7077-01A-11D-1961-08	TCGA-HC-7077-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd03be72-06ff-46b7-920e-533ae0988028	c7014407-f794-4174-bf47-38a2745c06b8	g.chr22:43088924G>A	ENST00000401850.1	-	2	1523	c.1034C>T	c.(1033-1035)aCg>aTg	p.T345M	A4GALT_ENST00000465765.2_5'Flank|A4GALT_ENST00000381278.3_Missense_Mutation_p.T345M|A4GALT_ENST00000249005.2_Missense_Mutation_p.T345M			Q9NPC4	A4GAT_HUMAN	alpha 1,4-galactosyltransferase	345					globoside biosynthetic process (GO:0001576)|glycosphingolipid biosynthetic process (GO:0006688)|plasma membrane organization (GO:0007009)|protein glycosylation (GO:0006486)	extracellular vesicular exosome (GO:0070062)|integral component of Golgi membrane (GO:0030173)|membrane (GO:0016020)	galactosyltransferase activity (GO:0008378)|lactosylceramide 4-alpha-galactosyltransferase activity (GO:0050512)|toxic substance binding (GO:0015643)			NS(1)|central_nervous_system(2)|large_intestine(6)|skin(1)|urinary_tract(1)	11						GGCCTCGTGCGTCGTGGGGCA	0.652																																						ENST00000401850.1																			0				NS(1)|central_nervous_system(2)|large_intestine(6)|skin(1)|urinary_tract(1)	11						c.(1033-1035)aCg>aTg		alpha 1,4-galactosyltransferase							50	50	50					22																	43088924		2203	4299	6502	SO:0001583	missense	53947				glycosphingolipid biosynthetic process|plasma membrane organization	Golgi stack|integral to Golgi membrane|membrane fraction	lactosylceramide 4-alpha-galactosyltransferase activity	g.chr22:43088924G>A		CCDS14041.1	22q13.2	2014-07-18	2008-07-31		ENSG00000128274	ENSG00000128274	2.4.1.228		18149	protein-coding gene	gene with protein product	"Gb3 synthase", "CD77 synthase", "globotriaosylceramide synthase", "lactosylceramide 4-alpha-galactosyltransferase"	607922	"alpha 1,4-galactosyltransferase (globotriaosylceramide synthase, P blood group)"			10854428	Standard	XM_005261643		Approved	A14GALT, Gb3S, P(k)	uc003bdb.3	Q9NPC4	OTTHUMG00000150744	ENST00000401850.1:c.1034C>T	22.37:g.43088924G>A	ENSP00000384794:p.Thr345Met					A4GALT_ENST00000249005.2_Missense_Mutation_p.T345M|A4GALT_ENST00000381278.3_Missense_Mutation_p.T345M	p.T345M			Q9NPC4	A4GAT_HUMAN			2	1523	-			345					B2R7C4|Q9P1X5	Missense_Mutation	SNP	ENST00000401850.1	37	c.1034C>T	CCDS14041.1	.	.	.	.	.	.	.	.	.	.	G	14.75	2.629512	0.46944	.	.	ENSG00000128274	ENST00000401850;ENST00000249005;ENST00000381278	T;T;T	0.80304	-1.36;-1.36;-1.36	5.42	5.42	0.78866	Alpha 1,4-glycosyltransferase domain (1);	.	.	.	.	D	0.90356	0.6982	M	0.80616	2.505	0.34245	D	0.678122	D	0.89917	1.0	D	0.77557	0.99	D	0.93683	0.7000	9	0.72032	D	0.01	-22.0517	18.8174	0.92081	0.0:0.0:1.0:0.0	.	345	Q9NPC4	A4GAT_HUMAN	M	345	ENSP00000384794:T345M;ENSP00000249005:T345M;ENSP00000370678:T345M	ENSP00000249005:T345M	T	-	2	0	A4GALT	41418868	1.000000	0.71417	0.357000	0.25798	0.062000	0.15995	5.345000	0.65987	2.552000	0.86080	0.655000	0.94253	ACG		0.652	A4GALT-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319917.1	NM_017436		17	69	0	0	0	0.010504	0	17	69					A	43088924	G	A	43088924	3	1	196	1	0	0	0	0	1	0	0	0	6	1145	40	1	31	1	A4GALT	22	43088924	Missense_Mutation	SNP	G	TCGA-HC-7077-01A-11D-1961-08	4633633	43088924	8215642	64	9127											
MXRA5	25878	broad.mit.edu	37	chrX	3228396	3228396	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccagcggcattgcgggccacGcagcggtaggccccggcgtc	5	4	16	16	6	0	0	0	0	0	0	1	0	0	0	4	5	3	3	4	5	1	2	rs151002571	byFrequency	TCGA-HC-7077-01A-11D-1961-08	TCGA-HC-7077-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd03be72-06ff-46b7-920e-533ae0988028	c7014407-f794-4174-bf47-38a2745c06b8	g.chrX:3228396G>A	ENST00000217939.6	-	7	8002	c.7848C>T	c.(7846-7848)tgC>tgT	p.C2616C		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	2616	Ig-like C2-type 10.					extracellular vesicular exosome (GO:0070062)				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				TGCGGGCCACGCAGCGGTAGG	0.602																																						ENST00000217939.6																			0				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157						c.(7846-7848)tgC>tgT		matrix-remodelling associated 5		G		7,3793		0,7,1614,558	22	24	23		7848	3.1	1	X	dbSNP_134	23	0,6670		0,0,2420,1830	no	coding-synonymous	MXRA5	NM_015419.3		0,7,4034,2388	AA,AG,GG,G		0.0,0.1842,0.0669		2616/2829	3228396	7,10463	2179	4250	6429	SO:0001819	synonymous_variant	25878					extracellular region		g.chrX:3228396G>A	AF245505	CCDS14124.1	Xp22.33	2013-01-29			ENSG00000101825	ENSG00000101825		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	7539	protein-coding gene	gene with protein product	"adlican"					12101425	Standard	NM_015419		Approved	DKFZp564I1922	uc004crg.4	Q9NR99	OTTHUMG00000021083	ENST00000217939.6:c.7848C>T	X.37:g.3228396G>A							p.C2616C	NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN			7	8002	-		all_lung(23;0.00031)|Lung NSC(23;0.000946)	2616			Ig-like C2-type 10.		Q6P1M7|Q9Y3Y8	Silent	SNP	ENST00000217939.6	37	c.7848C>T	CCDS14124.1																																																																																				0.602	MXRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055655.2	NM_015419		12	13	0	0	0	0.016723	0	12	13					A	3228396	G	A	3228396	2	1	196	1	0	0	0	0	0	0	0	1	10003	1079	38	1		1	MXRA5	23	3228396	Silent	SNP	G	TCGA-HC-7077-01A-11D-1961-08		3228396	152042164	65	9128											
SYNC	81493	broad.mit.edu	37	chr1	33149862	33149862	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tagcagcagaaactgacttaTaagtagagagctcttcagca	15	9	9	8	0	2	3	1	1	1	2	2	4	2	3	0	0	5	5	0	0	5	5	rs201938976	byFrequency	TCGA-HC-7078-01A-11D-2114-08	TCGA-HC-7078-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31caea4-427d-4b58-8a66-08aa09f6d2ea	9f0ddd3a-9a58-4c8e-b5c0-756fac4c0c69	g.chr1:33149862T>C	ENST00000409190.3	-	3	1813	c.1355A>G	c.(1354-1356)tAt>tGt	p.Y452C	RBBP4_ENST00000373493.5_3'UTR|SYNC_ENST00000373484.3_Missense_Mutation_p.Y452C	NM_030786.2	NP_110413	Q9H7C4	SYNCI_HUMAN	syncoilin, intermediate filament protein	452	Coil 2.				intermediate filament-based process (GO:0045103)	cytosol (GO:0005829)|intermediate filament (GO:0005882)|neuromuscular junction (GO:0031594)|sarcolemma (GO:0042383)|Z disc (GO:0030018)	structural molecule activity (GO:0005198)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	12						AACTGACTTATAAGTAGAGAG	0.433													T|||	4	0.000798722	0.003	0	5008	,	,		18566	0		0	False		,,,				2504	0					ENST00000373484.3																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	12						c.(1354-1356)tAt>tGt		syncoilin, intermediate filament protein							263	266	265					1																	33149862		2203	4300	6503	SO:0001583	missense	81493					intermediate filament|perinuclear region of cytoplasm	structural molecule activity	g.chr1:33149862T>C	AK024707	CCDS367.2, CCDS53294.1	1p35.1	2013-01-16	2008-09-19	2008-09-19	ENSG00000162520	ENSG00000162520		"Intermediate filaments type III"	28897	protein-coding gene	gene with protein product		611750	"syncoilin, intermediate filament 1"	SYNC1		11053421	Standard	NM_030786		Approved	SYNCOILIN	uc001bvt.2	Q9H7C4	OTTHUMG00000008087	ENST00000409190.3:c.1355A>G	1.37:g.33149862T>C	ENSP00000386439:p.Tyr452Cys					RBBP4_ENST00000373493.5_3'UTR|SYNC_ENST00000409190.3_Missense_Mutation_p.Y452C	p.Y452C	NM_001161708.1	NP_001155180.1	Q9H7C4	SYNCI_HUMAN			3	1454	-			452			Coil 2.		B4DNK8|B4DY58|C9IY41	Missense_Mutation	SNP	ENST00000409190.3	37	c.1355A>G	CCDS367.2	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	T	18.01	3.528145	0.64860	.	.	ENSG00000162520	ENST00000373484;ENST00000409190	D;D	0.97186	-4.28;-4.28	5.71	4.57	0.56435	Filament (1);	0.167577	0.40469	N	0.001087	D	0.96374	0.8817	N	0.19112	0.55	0.47037	D	0.999297	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.96484	0.9358	10	0.87932	D	0	.	11.4698	0.50261	0.1418:0.0:0.0:0.8582	.	452;452	Q9H7C4-2;Q9H7C4	.;SYNCI_HUMAN	C	452	ENSP00000362583:Y452C;ENSP00000386439:Y452C	ENSP00000362583:Y452C	Y	-	2	0	SYNC	32922449	1.000000	0.71417	0.861000	0.33841	0.899000	0.52679	2.770000	0.47662	1.079000	0.41038	0.459000	0.35465	TAT		0.433	SYNC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022129.3	NM_030786		133	186	0	0	0	1	0	133	186					C	33149862	T	C	33149862	3	2	197	1	0	0	0	0	1	0	0	0	15440	1406	49	4	167	4	SYNC	1	33149862	Missense_Mutation	SNP	T	TCGA-HC-7078-01A-11D-2114-08		33149862	216100759	1	9129											
HCN3	57657	broad.mit.edu	37	chr1	155255754	155255754	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	accgatggatcctactttggGggtcagcaggcctcagggag	8	8	15	10	1	2	0	2	0	0	0	3	3	3	2	3	5	2	1	3	5	1	2			TCGA-HC-7078-01A-11D-2114-08	TCGA-HC-7078-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31caea4-427d-4b58-8a66-08aa09f6d2ea	9f0ddd3a-9a58-4c8e-b5c0-756fac4c0c69	g.chr1:155255754G>T	ENST00000368358.3	+	6	1484	c.1476G>T	c.(1474-1476)ggG>ggT	p.G492G	HCN3_ENST00000496230.1_3'UTR	NM_020897.2	NP_065948.1	Q9P1Z3	HCN3_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 3	492					potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated sodium channel activity (GO:0005248)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			CCTACTTTGGGGGTCAGCAGG	0.647																																						ENST00000368358.3																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.e6+1		hyperpolarization activated cyclic nucleotide-gated potassium channel 3							59	66	64					1																	155255754		2203	4300	6503	SO:0001630	splice_region_variant	57657					integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity	g.chr1:155255754G>T	AB040968	CCDS1108.1	1q21.2	2011-07-05			ENSG00000143630	ENSG00000143630		"Voltage-gated ion channels / Cyclic nucleotide-regulated channels"	19183	protein-coding gene	gene with protein product		609973				16382102	Standard	NM_020897		Approved	KIAA1535	uc001fjz.2	Q9P1Z3	OTTHUMG00000035872	ENST00000368358.3:c.1477+1G>T	1.37:g.155255754G>T						HCN3_ENST00000496230.1_3'UTR	p.G492_splice	NM_020897.1	NP_065948.1	Q9P1Z3	HCN3_HUMAN	Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)		6	1484	+	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		492					D3DV90|Q4VX12|Q8N6W6|Q9BWQ2	Splice_Site	SNP	ENST00000368358.3	37	c.1477_splice	CCDS1108.1																																																																																				0.647	HCN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087388.1	NM_020897	Silent	54	114	1	0	5.82089e-37	1	6.1847e-37	54	114					T	155255754	G	T	155255754	5	4	197	1	0	0	0	0	0	0	1	0	6998	1246	43	5	1498	5	HCN3	1	155255754	Splice_Site	SNP	G	TCGA-HC-7078-01A-11D-2114-08	122105892	155255754	93994867	2	9130											
POLR1B	84172	broad.mit.edu	37	chr2	113332905	113332905	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tggtttattatcagcgcttaCgccatatggtctcagacaaa	11	13	8	9	2	2	1	2	0	1	1	3	1	2	1	1	2	2	2	1	2	5	5			TCGA-HC-7078-01A-11D-2114-08	TCGA-HC-7078-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31caea4-427d-4b58-8a66-08aa09f6d2ea	9f0ddd3a-9a58-4c8e-b5c0-756fac4c0c69	g.chr2:113332905C>G	ENST00000263331.5	+	15	3587	c.3007C>G	c.(3007-3009)Cgc>Ggc	p.R1003G	POLR1B_ENST00000417433.2_Missense_Mutation_p.R947G|POLR1B_ENST00000541869.1_Missense_Mutation_p.R1041G|POLR1B_ENST00000409894.3_Missense_Mutation_p.R820G|POLR1B_ENST00000537335.1_Missense_Mutation_p.R792G	NM_019014.4	NP_061887.2	Q9H9Y6	RPA2_HUMAN	polymerase (RNA) I polypeptide B, 128kDa	1003					gene expression (GO:0010467)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|metal ion binding (GO:0046872)|ribonucleoside binding (GO:0032549)			breast(3)|endometrium(9)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	42						TCAGCGCTTACGCCATATGGT	0.478																																					Ovarian(16;256 576 9537 23969 41147)	ENST00000263331.5																			0				breast(3)|endometrium(9)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	42						c.(3007-3009)Cgc>Ggc		polymerase (RNA) I polypeptide B, 128kDa							80	84	83					2																	113332905		2203	4300	6503	SO:0001583	missense	84172				termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|protein binding|ribonucleoside binding	g.chr2:113332905C>G	AK001678	CCDS2097.1, CCDS46395.1, CCDS62988.1, CCDS62989.1, CCDS62990.1	2q13	2013-01-21			ENSG00000125630	ENSG00000125630		"RNA polymerase subunits"	20454	protein-coding gene	gene with protein product		602000					Standard	NM_001137604		Approved	Rpo1-2, FLJ21921, FLJ10816, RPA2	uc002thw.2	Q9H9Y6	OTTHUMG00000131314	ENST00000263331.5:c.3007C>G	2.37:g.113332905C>G	ENSP00000263331:p.Arg1003Gly					POLR1B_ENST00000409894.3_Missense_Mutation_p.R820G|POLR1B_ENST00000541869.1_Missense_Mutation_p.R1041G|POLR1B_ENST00000417433.2_Missense_Mutation_p.R947G|POLR1B_ENST00000537335.1_Missense_Mutation_p.R792G	p.R1003G	NM_019014.4	NP_061887.2	Q9H9Y6	RPA2_HUMAN			15	3587	+			1003					B7Z6Y7|B7Z823|F5GZX4|F8W898|Q2TAM4|Q585T5|Q6ZRR2|Q9H9D3	Missense_Mutation	SNP	ENST00000263331.5	37	c.3007C>G	CCDS2097.1	.	.	.	.	.	.	.	.	.	.	C	19.32	3.804660	0.70682	.	.	ENSG00000125630	ENST00000263331;ENST00000541869;ENST00000409894;ENST00000537335;ENST00000417433;ENST00000536096	T;T;T;T;T	0.73152	-0.72;-0.72;-0.72;-0.72;-0.72	5.59	5.59	0.84812	DNA-directed RNA polymerase, subunit 2, domain 6 (2);	0.046856	0.85682	D	0.000000	D	0.85544	0.5721	M	0.86573	2.825	0.80722	D	1	D;D;D;D	0.89917	1.0;0.998;1.0;1.0	D;D;D;D	0.97110	1.0;0.994;0.999;1.0	D	0.87628	0.2514	10	0.87932	D	0	-21.6651	13.9537	0.64135	0.1524:0.8476:0.0:0.0	.	1041;820;947;1003	F5GZX4;F8W898;Q9H9Y6-2;Q9H9Y6	.;.;.;RPA2_HUMAN	G	1003;1041;820;792;947;362	ENSP00000263331:R1003G;ENSP00000444136:R1041G;ENSP00000387143:R820G;ENSP00000437914:R792G;ENSP00000405358:R947G	ENSP00000263331:R1003G	R	+	1	0	POLR1B	113049376	1.000000	0.71417	0.925000	0.36789	0.857000	0.48899	5.630000	0.67805	2.622000	0.88805	0.563000	0.77884	CGC		0.478	POLR1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254083.1	NM_019014		18	40	0	0	0	1	0	18	40					G	113332905	C	G	113332905	3	3	197	1	0	0	0	0	1	0	0	0	12210	536	19	5	3065	5	POLR1B	2	113332905	Missense_Mutation	SNP	C	TCGA-HC-7078-01A-11D-2114-08		113332905	129866468	3	9131											
CCDC74B	91409	broad.mit.edu	37	chr2	130902456	130902456	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tcgctctgcctgagctgcggGctctgcggcctcaaggactg	4	9	14	14	3	3	1	1	1	2	0	4	2	3	2	2	3	4	3	2	3	1	0			TCGA-HC-7078-01A-11D-2114-08	TCGA-HC-7078-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31caea4-427d-4b58-8a66-08aa09f6d2ea	9f0ddd3a-9a58-4c8e-b5c0-756fac4c0c69	g.chr2:130902456G>C	ENST00000310463.6	-	1	251	c.114C>G	c.(112-114)agC>agG	p.S38R	CCDC74B_ENST00000409234.3_Missense_Mutation_p.S38R|CCDC74B_ENST00000409128.1_Missense_Mutation_p.S38R|CCDC74B_ENST00000392984.3_5'UTR|CCDC74B_ENST00000409943.3_Missense_Mutation_p.S38R	NM_207310.2	NP_997193.1	Q96LY2	CC74B_HUMAN	coiled-coil domain containing 74B	38										endometrium(2)|large_intestine(1)|lung(3)	6	Colorectal(110;0.1)					TGAGCTGCGGGCTCTGCGGCC	0.716																																						ENST00000310463.6																			0				endometrium(2)|large_intestine(1)|lung(3)	6						c.(112-114)agC>agG		coiled-coil domain containing 74B							23	24	23					2																	130902456		2197	4296	6493	SO:0001583	missense	91409							g.chr2:130902456G>C		CCDS2155.1, CCDS58726.1	2q21.1	2006-11-29		2006-02-16	ENSG00000152076	ENSG00000152076			25267	protein-coding gene	gene with protein product							Standard	NM_001258307		Approved	DKFZp434E2321	uc002tqn.2	Q96LY2	OTTHUMG00000131629	ENST00000310463.6:c.114C>G	2.37:g.130902456G>C	ENSP00000308873:p.Ser38Arg					CCDC74B_ENST00000409128.1_Missense_Mutation_p.S38R|CCDC74B_ENST00000409234.3_Missense_Mutation_p.S38R|CCDC74B_ENST00000392984.3_5'UTR|CCDC74B_ENST00000409943.3_Missense_Mutation_p.S38R	p.S38R	NM_207310.2	NP_997193.1	Q96LY2	CC74B_HUMAN			1	251	-	Colorectal(110;0.1)		38					Q6NW18	Missense_Mutation	SNP	ENST00000310463.6	37	c.114C>G	CCDS2155.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	13.34|13.34	2.206925|2.206925	0.39003|0.39003	.|.	.|.	ENSG00000152076|ENSG00000152076	ENST00000457413|ENST00000409943;ENST00000310463;ENST00000409488;ENST00000409128;ENST00000418636;ENST00000409234;ENST00000441670	.|T;T;T	.|0.46451	.|1.88;1.87;0.87	2.59|2.59	-0.048|-0.048	0.13840|0.13840	.|.	.|.	.|.	.|.	.|.	T|T	0.38268|0.38268	0.1034|0.1034	N|N	0.22421|0.22421	0.69|0.69	0.20307|0.20307	N|N	0.999915|0.999915	.|D;P;P	.|0.59767	.|0.986;0.531;0.523	.|P;B;B	.|0.53912	.|0.737;0.189;0.381	T|T	0.31998|0.31998	-0.9923|-0.9923	5|9	.|0.54805	.|T	.|0.06	.|.	9.3734|9.3734	0.38268|0.38268	0.0:0.6314:0.3686:0.0|0.0:0.6314:0.3686:0.0	.|.	.|38;38;38	.|E9PG54;Q96LY2-2;Q96LY2	.|.;.;CC74B_HUMAN	A|R	38|38	.|ENSP00000386294:S38R;ENSP00000308873:S38R;ENSP00000386644:S38R	.|ENSP00000308873:S38R	P|S	-|-	1|3	0|2	CCDC74B|CCDC74B	130618926|130618926	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.083000|0.083000	0.17756|0.17756	0.036000|0.036000	0.13819|0.13819	-0.207000|-0.207000	0.10187|0.10187	0.291000|0.291000	0.19559|0.19559	CCC|AGC		0.716	CCDC74B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254522.3	NM_207310		17	24	0	0	0	1	0	17	24					C	130902456	G	C	130902456	3	2	197	1	0	0	0	0	1	0	0	0	2848	1194	42	5	1060	5	CCDC74B	2	130902456	Missense_Mutation	SNP	G	TCGA-HC-7078-01A-11D-2114-08	17569551	130902456	112296917	4	9132											
HOXD10	3236	broad.mit.edu	37	chr2	176981857	176981857	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	acctgttacacagcaagtccCcacttgctccttcaccacca	10	9	4	18	0	1	0	1	0	0	0	3	0	3	0	6	0	3	3	6	0	2	3			TCGA-HC-7078-01A-11D-2114-08	TCGA-HC-7078-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31caea4-427d-4b58-8a66-08aa09f6d2ea	9f0ddd3a-9a58-4c8e-b5c0-756fac4c0c69	g.chr2:176981857C>T	ENST00000249501.4	+	1	551	c.296C>T	c.(295-297)cCc>cTc	p.P99L	HOXD10_ENST00000490088.2_Intron	NM_002148.3	NP_002139.2	P28358	HXD10_HUMAN	homeobox D10	99					adult locomotory behavior (GO:0008344)|anterior/posterior pattern specification (GO:0009952)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal system morphogenesis (GO:0048704)|forelimb morphogenesis (GO:0035136)|hindlimb morphogenesis (GO:0035137)|neuromuscular process (GO:0050905)|peripheral nervous system neuron development (GO:0048935)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proximal/distal pattern formation (GO:0009954)|single fertilization (GO:0007338)|skeletal muscle tissue development (GO:0007519)|spinal cord motor neuron cell fate specification (GO:0021520)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	17			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	Colorectal(32;0.0226)|READ - Rectum adenocarcinoma(9;0.0556)		CAGCAAGTCCCCACTTGCTCC	0.448																																						ENST00000249501.4																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	17						c.(295-297)cCc>cTc		homeobox D10							112	114	113					2																	176981857		2203	4300	6503	SO:0001583	missense	3236					nucleus	sequence-specific DNA binding	g.chr2:176981857C>T		CCDS2266.1	2q31.1	2014-09-17	2005-12-22		ENSG00000128710	ENSG00000128710		"Homeoboxes / ANTP class : HOXL subclass"	5133	protein-coding gene	gene with protein product		142984	"homeo box D10"	HOX4, HOX4D		1973146, 1358459	Standard	NM_002148		Approved		uc002ukj.3	P28358	OTTHUMG00000132511	ENST00000249501.4:c.296C>T	2.37:g.176981857C>T	ENSP00000249501:p.Pro99Leu					HOXD10_ENST00000490088.2_Intron	p.P99L	NM_002148.3	NP_002139.2	P28358	HXD10_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	Colorectal(32;0.0226)|READ - Rectum adenocarcinoma(9;0.0556)	1	551	+			99					Q6NT10	Missense_Mutation	SNP	ENST00000249501.4	37	c.296C>T	CCDS2266.1	.	.	.	.	.	.	.	.	.	.	C	15.30	2.793911	0.50102	.	.	ENSG00000128710	ENST00000249501	T	0.37915	1.17	5.73	5.73	0.89815	.	0.103857	0.64402	D	0.000002	T	0.45538	0.1347	M	0.84846	2.72	0.80722	D	1	P	0.39022	0.655	B	0.32533	0.147	T	0.55029	-0.8204	10	0.52906	T	0.07	.	19.4898	0.95046	0.0:1.0:0.0:0.0	.	99	P28358	HXD10_HUMAN	L	99	ENSP00000249501:P99L	ENSP00000249501:P99L	P	+	2	0	HOXD10	176690103	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.487000	0.81328	2.699000	0.92147	0.655000	0.94253	CCC		0.448	HOXD10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255692.2			36	65	0	0	0	1	0	36	65					T	176981857	C	T	176981857	3	4	197	1	0	0	0	0	1	0	0	0	7319	623	22	3	298	3	HOXD10	2	176981857	Missense_Mutation	SNP	C	TCGA-HC-7078-01A-11D-2114-08	46079401	176981857	66217516	5	9133											
TTN	7273	broad.mit.edu	37	chr2	179648886	179648886	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tacttcctttttcacctcaaCgccagcttcactcttgtaag	8	15	4	14	1	4	0	3	0	1	0	5	0	5	0	3	0	3	2	3	0	3	7	rs376768790	byFrequency	TCGA-HC-7078-01A-11D-2114-08	TCGA-HC-7078-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31caea4-427d-4b58-8a66-08aa09f6d2ea	9f0ddd3a-9a58-4c8e-b5c0-756fac4c0c69	g.chr2:179648886C>T	ENST00000591111.1	-	16	2910	c.2686G>A	c.(2686-2688)Gtt>Att	p.V896I	TTN_ENST00000342175.6_Missense_Mutation_p.V850I|TTN_ENST00000589042.1_Missense_Mutation_p.V896I|TTN_ENST00000342992.6_Missense_Mutation_p.V896I|TTN_ENST00000359218.5_Missense_Mutation_p.V850I|TTN_ENST00000460472.2_Missense_Mutation_p.V850I|TTN_ENST00000360870.5_Missense_Mutation_p.V896I			Q8WZ42	TITIN_HUMAN	titin	33718					adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.V850I(3)|p.V896I(2)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTCACCTCAACGCCAGCTTCA	0.547													C|||	3	0.000599042	8e-04	0	5008	,	,		16490	0.001		0.001	False		,,,				2504	0					ENST00000589042.1																			5	Substitution - Missense(5)	p.V850I(3)|p.V896I(2)	large_intestine(5)	NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(2686-2688)Gtt>Att		titin		C	ILE/VAL,ILE/VAL,ILE/VAL,ILE/VAL,ILE/VAL	0,4406		0,0,2203	157	124	135		2548,2548,2686,2686,2548	1.8	1	2		135	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense,missense	TTN	NM_133437.3,NM_133432.3,NM_133379.3,NM_133378.4,NM_003319.4	29,29,29,29,29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign,benign,benign,benign,benign	850/27119,850/27052,896/5605,896/33424,850/26927	179648886	1,13005	2203	4300	6503	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179648886C>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.2686G>A	2.37:g.179648886C>T	ENSP00000465570:p.Val896Ile					TTN_ENST00000460472.2_Missense_Mutation_p.V850I|TTN_ENST00000360870.5_Missense_Mutation_p.V896I|TTN_ENST00000359218.5_Missense_Mutation_p.V850I|TTN_ENST00000342992.6_Missense_Mutation_p.V896I|TTN_ENST00000342175.6_Missense_Mutation_p.V850I|TTN_ENST00000591111.1_Missense_Mutation_p.V896I	p.V896I	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		16	2910	-			896					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.2686G>A		.	.	.	.	.	.	.	.	.	.	C	9.914	1.210309	0.22289	0.0	1.16E-4	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127;ENST00000360870	T;T;T;T;T	0.61627	0.09;0.27;0.25;0.26;0.5	5.52	1.84	0.25277	Ribonuclease H-like (1);	.	.	.	.	T	0.31918	0.0812	N	0.02247	-0.625	0.19575	N	0.999969	B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0	B;B;B;B;B	0.04013	0.0;0.0;0.0;0.0;0.001	T	0.28459	-1.0043	9	0.87932	D	0	.	10.5203	0.44914	0.0:0.2293:0.0:0.7707	.	850;850;850;896;896	D3DPF9;E7EQE6;E7ET18;Q8WZ42;Q8WZ42-6	.;.;.;TITIN_HUMAN;.	I	896;850;850;850;850;896	ENSP00000343764:V896I;ENSP00000434586:V850I;ENSP00000340554:V850I;ENSP00000352154:V850I;ENSP00000354117:V896I	ENSP00000340554:V850I	V	-	1	0	TTN	179357131	0.550000	0.26489	0.995000	0.50966	0.392000	0.30506	0.262000	0.18460	0.138000	0.18790	-1.084000	0.02203	GTT		0.547	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		43	92	0	0	0	1	0	43	92					T	179648886	C	T	179648886	3	4	197	1	0	0	0	0	1	0	0	0	16732	536	19	1	108690	1	TTN	2	179648886	Missense_Mutation	SNP	C	TCGA-HC-7078-01A-11D-2114-08	2667029	179648886	63550487	6	9134											
ANO10	55129	broad.mit.edu	37	chr3	43618225	43618225	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cagcatatcgatagagacgaTtcatgatctcaatcacaatg	15	10	7	9	2	3	2	3	1	1	1	5	5	3	2	0	0	1	1	0	0	4	3			TCGA-HC-7078-01A-11D-2114-08	TCGA-HC-7078-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31caea4-427d-4b58-8a66-08aa09f6d2ea	9f0ddd3a-9a58-4c8e-b5c0-756fac4c0c69	g.chr3:43618225T>C	ENST00000292246.3	-	6	1291	c.1121A>G	c.(1120-1122)aAt>aGt	p.N374S	ANO10_ENST00000414522.2_Missense_Mutation_p.N374S|ANO10_ENST00000396091.3_Missense_Mutation_p.N308S|ANO10_ENST00000350459.4_Intron|ANO10_ENST00000451430.2_Missense_Mutation_p.N263S	NM_018075.3	NP_060545.3	Q9NW15	ANO10_HUMAN	anoctamin 10	374					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|cell death (GO:0008219)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|intracellular calcium activated chloride channel activity (GO:0005229)			NS(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(9)|ovary(3)|prostate(3)|skin(3)	29						ATAGAGACGATTCATGATCTC	0.453																																						ENST00000292246.3																			0				NS(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(9)|ovary(3)|prostate(3)|skin(3)	29						c.(1120-1122)aAt>aGt		anoctamin 10							72	62	65					3																	43618225		2203	4300	6503	SO:0001583	missense	55129				cell death	chloride channel complex	chloride channel activity	g.chr3:43618225T>C	AL832508	CCDS2710.2, CCDS56247.1, CCDS56248.1, CCDS56249.1, CCDS56250.1	3p22.1-p21.33	2014-04-09	2008-08-28	2008-08-28	ENSG00000160746	ENSG00000160746		"Ion channels / Chloride channels : Calcium activated : Anoctamins"	25519	protein-coding gene	gene with protein product		613726	"transmembrane protein 16K"	TMEM16K		12477932, 24692353	Standard	NM_001204831		Approved	FLJ10375, MGC47890, SCAR10	uc003cmv.3	Q9NW15	OTTHUMG00000133044	ENST00000292246.3:c.1121A>G	3.37:g.43618225T>C	ENSP00000292246:p.Asn374Ser					ANO10_ENST00000350459.4_Intron|ANO10_ENST00000451430.2_Missense_Mutation_p.N263S|ANO10_ENST00000396091.3_Missense_Mutation_p.N308S|ANO10_ENST00000414522.2_Missense_Mutation_p.N374S	p.N374S	NM_018075.3	NP_060545.3	Q9NW15	ANO10_HUMAN			6	1291	-			374					A8K8K3|A8MV74|B3KTZ1|B3KY93|B4DJ83|B4DNK2|B7WP12|C9JHS1|Q8IXX9	Missense_Mutation	SNP	ENST00000292246.3	37	c.1121A>G	CCDS2710.2	.	.	.	.	.	.	.	.	.	.	T	20.5	4.007962	0.75046	.	.	ENSG00000160746	ENST00000292246;ENST00000396091;ENST00000414522;ENST00000451430	T;T;T;T	0.64085	-0.08;-0.08;-0.08;-0.08	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	T	0.68705	0.3030	L	0.49699	1.58	0.58432	D	0.999996	P;P;B;P	0.40083	0.702;0.623;0.383;0.623	P;P;B;P	0.52646	0.551;0.587;0.321;0.705	T	0.62964	-0.6742	10	0.18710	T	0.47	.	16.2127	0.82178	0.0:0.0:0.0:1.0	.	263;374;308;374	Q9NW15-4;C9JHS1;Q9NW15-3;Q9NW15	.;.;.;ANO10_HUMAN	S	374;308;374;263	ENSP00000292246:N374S;ENSP00000379398:N308S;ENSP00000396990:N374S;ENSP00000394119:N263S	ENSP00000292246:N374S	N	-	2	0	ANO10	43593229	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	8.015000	0.88690	2.236000	0.73375	0.533000	0.62120	AAT		0.453	ANO10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256649.2	NM_018075		18	34	0	0	0	1	0	18	34					C	43618225	T	C	43618225	3	2	197	1	0	0	0	0	1	0	0	0	696	1493	52	4	893	4	ANO10	3	43618225	Missense_Mutation	SNP	T	TCGA-HC-7078-01A-11D-2114-08		43618225	154404205	7	9135											
FYCO1	79443	broad.mit.edu	37	chr3	46021201	46021201	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgcttgctcagcttacctctGagatagacttgacaaagcgg	10	11	10	10	1	2	3	1	2	1	2	2	4	2	3	1	1	5	3	1	1	3	4			TCGA-HC-7078-01A-11D-2114-08	TCGA-HC-7078-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31caea4-427d-4b58-8a66-08aa09f6d2ea	9f0ddd3a-9a58-4c8e-b5c0-756fac4c0c69	g.chr3:46021201G>A	ENST00000296137.2	-	4	489	c.284C>T	c.(283-285)tCa>tTa	p.S95L	FYCO1_ENST00000535325.1_Missense_Mutation_p.S95L	NM_024513.3	NP_078789.2	Q9BQS8	FYCO1_HUMAN	FYVE and coiled-coil domain containing 1	95	RUN. {ECO:0000255|PROSITE- ProRule:PRU00178}.				plus-end-directed vesicle transport along microtubule (GO:0072383)	autophagic vacuole (GO:0005776)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)	metal ion binding (GO:0046872)			NS(4)|breast(3)|central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(17)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	54				BRCA - Breast invasive adenocarcinoma(193;0.00147)|KIRC - Kidney renal clear cell carcinoma(197;0.0272)|Kidney(197;0.0323)		GCTTACCTCTGAGATAGACTT	0.498																																						ENST00000296137.2																			0				NS(4)|breast(3)|central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(17)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	54						c.(283-285)tCa>tTa		FYVE and coiled-coil domain containing 1							190	163	172					3																	46021201		2203	4300	6503	SO:0001583	missense	79443				transport	integral to membrane	metal ion binding|protein binding	g.chr3:46021201G>A	AJ292348	CCDS2734.1	3p21.3	2008-02-05			ENSG00000163820	ENSG00000163820		"Zinc fingers, FYVE domain containing"	14673	protein-coding gene	gene with protein product		607182				11896456	Standard	NM_024513		Approved	FLJ13335, ZFYVE7	uc003cpb.5	Q9BQS8	OTTHUMG00000133447	ENST00000296137.2:c.284C>T	3.37:g.46021201G>A	ENSP00000296137:p.Ser95Leu					FYCO1_ENST00000535325.1_Missense_Mutation_p.S95L	p.S95L	NM_024513.3	NP_078789.2	Q9BQS8	FYCO1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00147)|KIRC - Kidney renal clear cell carcinoma(197;0.0272)|Kidney(197;0.0323)	4	489	-			95			RUN.		B7ZKT7|Q3MJE6|Q86T41|Q86TB1|Q8TEF9|Q96IV5|Q9H8P9	Missense_Mutation	SNP	ENST00000296137.2	37	c.284C>T	CCDS2734.1	.	.	.	.	.	.	.	.	.	.	G	15.83	2.948924	0.53186	.	.	ENSG00000163820	ENST00000296137;ENST00000535325	T;T	0.12774	2.65;2.65	5.36	4.49	0.54785	RUN (2);	0.429079	0.22706	N	0.056633	T	0.18635	0.0447	N	0.22421	0.69	0.33583	D	0.600149	D;P	0.59767	0.986;0.772	P;P	0.57204	0.815;0.609	T	0.19976	-1.0289	10	0.54805	T	0.06	-1.9519	12.6484	0.56748	0.0771:0.0:0.9229:0.0	.	95;95	B7ZKT7;Q9BQS8	.;FYCO1_HUMAN	L	95	ENSP00000296137:S95L;ENSP00000441178:S95L	ENSP00000296137:S95L	S	-	2	0	FYCO1	45996205	1.000000	0.71417	0.042000	0.18584	0.235000	0.25334	6.366000	0.73095	1.275000	0.44379	-0.347000	0.07816	TCA		0.498	FYCO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257320.2	NM_024513		38	89	0	0	0	1	0	38	89					A	46021201	G	A	46021201	3	1	197	1	0	0	0	0	1	0	0	0	6125	1294	45	3	4212	3	FYCO1	3	46021201	Missense_Mutation	SNP	G	TCGA-HC-7078-01A-11D-2114-08	2402976	46021201	152001229	8	9136											
OR5H6	79295	broad.mit.edu	37	chr3	97984008	97984008	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atatgatggagtctctatttTacactgtcatagttccttta	10	18	6	7	0	2	1	1	1	1	0	4	2	3	2	1	1	1	1	1	1	5	8			TCGA-HC-7078-01A-11D-2114-08	TCGA-HC-7078-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31caea4-427d-4b58-8a66-08aa09f6d2ea	9f0ddd3a-9a58-4c8e-b5c0-756fac4c0c69	g.chr3:97984008T>C	ENST00000383696.2	+	1	921	c.880T>C	c.(880-882)Tac>Cac	p.Y294H	RP11-325B23.2_ENST00000508616.1_lincRNA	NM_001005479.1	NP_001005479.1	Q8NGV6	OR5H6_HUMAN	olfactory receptor, family 5, subfamily H, member 6 (gene/pseudogene)	294						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(2)|endometrium(1)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						GTCTCTATTTTACACTGTCAT	0.378																																						ENST00000383696.2																			0				cervix(2)|endometrium(1)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						c.(880-882)Tac>Cac		olfactory receptor, family 5, subfamily H, member 6 (gene/pseudogene)							65	63	64					3																	97984008		2203	4300	6503	SO:0001583	missense	79295				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr3:97984008T>C	BK004374	CCDS33800.1	3q12.1	2013-10-10	2013-10-10		ENSG00000230301	ENSG00000230301		"GPCR / Class A : Olfactory receptors"	14767	protein-coding gene	gene with protein product			"olfactory receptor, family 5, subfamily H, member 6"				Standard	NM_001005479		Approved		uc003dsi.1	Q8NGV6	OTTHUMG00000160078	ENST00000383696.2:c.880T>C	3.37:g.97984008T>C	ENSP00000373196:p.Tyr294His					RP11-325B23.2_ENST00000508616.1_lincRNA	p.Y294H	NM_001005479.1	NP_001005479.1	Q8NGV6	OR5H6_HUMAN			1	921	+			294					Q6IF88	Missense_Mutation	SNP	ENST00000383696.2	37	c.880T>C	CCDS33800.1	.	.	.	.	.	.	.	.	.	.	-	16.07	3.019799	0.54576	.	.	ENSG00000230301	ENST00000383696	T	0.00321	8.11	2.19	2.19	0.27852	GPCR, rhodopsin-like superfamily (1);	0.000000	0.42821	D	0.000649	T	0.00754	0.0025	M	0.92367	3.3	0.09310	N	1	D	0.89917	1.0	D	0.97110	1.0	T	0.24905	-1.0147	10	0.87932	D	0	.	7.9658	0.30098	0.0:0.0:0.0:1.0	.	294	Q8NGV6	OR5H6_HUMAN	H	294	ENSP00000373196:Y294H	ENSP00000373196:Y294H	Y	+	1	0	OR5H6	99466698	0.457000	0.25752	0.953000	0.39169	0.582000	0.36321	1.817000	0.39002	1.006000	0.39211	0.163000	0.16589	TAC		0.378	OR5H6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359111.2			16	35	0	0	0	1	0	16	35					C	97984008	T	C	97984008	3	2	197	1	0	0	0	0	1	0	0	0	11163	1754	61	4	882	4	OR5H6	3	97984008	Missense_Mutation	SNP	T	TCGA-HC-7078-01A-11D-2114-08	51962807	97984008	100038422	9	9137											
CD86	942	broad.mit.edu	37	chr3	121828209	121828209	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atggttttctgtctaattctAtggaaatggaagaagaagaa	15	13	10	3	0	3	3	0	0	3	3	3	5	3	5	0	3	0	1	0	3	7	5			TCGA-HC-7078-01A-11D-2114-08	TCGA-HC-7078-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31caea4-427d-4b58-8a66-08aa09f6d2ea	9f0ddd3a-9a58-4c8e-b5c0-756fac4c0c69	g.chr3:121828209A>T	ENST00000330540.2	+	5	917	c.801A>T	c.(799-801)ctA>ctT	p.L267L	CD86_ENST00000393627.2_Silent_p.L261L|CD86_ENST00000493101.1_Silent_p.L155L|CD86_ENST00000264468.5_Silent_p.L54L|CD86_ENST00000469710.1_Silent_p.L185L	NM_175862.4	NP_787058	P42081	CD86_HUMAN	CD86 molecule	267					aging (GO:0007568)|B cell activation (GO:0042113)|cell-cell signaling (GO:0007267)|cellular response to cytokine stimulus (GO:0071345)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to metal ion (GO:0071248)|defense response to virus (GO:0051607)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|immune response (GO:0006955)|innate immune response (GO:0045087)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of T cell anergy (GO:0002668)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of cell proliferation (GO:0008284)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of interleukin-4 biosynthetic process (GO:0045404)|positive regulation of lymphotoxin A biosynthetic process (GO:0043017)|positive regulation of T-helper 2 cell differentiation (GO:0045630)|positive regulation of transcription, DNA-templated (GO:0045893)|response to drug (GO:0042493)|response to interferon-gamma (GO:0034341)|response to yeast (GO:0001878)|T cell activation (GO:0042110)|T cell costimulation (GO:0031295)|T cell proliferation involved in immune response (GO:0002309)|toll-like receptor signaling pathway (GO:0002224)|viral process (GO:0016032)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	coreceptor activity (GO:0015026)|receptor activity (GO:0004872)			breast(2)|endometrium(1)|kidney(1)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(3)	23				GBM - Glioblastoma multiforme(114;0.156)	Abatacept(DB01281)|Antithymocyte globulin(DB00098)|Belatacept(DB06681)	GTCTAATTCTATGGAAATGGA	0.458																																					GBM(67;1379 1389 36064 39806)	ENST00000330540.2																			0				breast(2)|endometrium(1)|kidney(1)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(3)	23						c.(799-801)ctA>ctT		CD86 molecule	Abatacept(DB01281)						145	143	144					3																	121828209		2203	4300	6503	SO:0001819	synonymous_variant	942				interspecies interaction between organisms|positive regulation of cell proliferation|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-4 biosynthetic process|positive regulation of lymphotoxin A biosynthetic process|positive regulation of T-helper 2 cell differentiation|positive regulation of transcription, DNA-dependent|T cell costimulation		coreceptor activity|protein binding	g.chr3:121828209A>T		CCDS3009.1, CCDS43138.1, CCDS56272.1, CCDS56273.1, CCDS74991.1	3q21	2013-01-29	2006-03-28		ENSG00000114013	ENSG00000114013		"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	1705	protein-coding gene	gene with protein product	"B-lymphocyte antigen B7-2"	601020	"CD86 antigen (CD28 antigen ligand 2, B7-2 antigen)"	CD28LG2		7513726	Standard	NM_006889		Approved	B7.2, B7-2	uc003eet.3	P42081	OTTHUMG00000159482	ENST00000330540.2:c.801A>T	3.37:g.121828209A>T						CD86_ENST00000264468.5_Silent_p.L54L|CD86_ENST00000393627.2_Silent_p.L261L|CD86_ENST00000469710.1_Silent_p.L185L|CD86_ENST00000493101.1_Silent_p.L155L	p.L267L	NM_175862.4	NP_787058.4	P42081	CD86_HUMAN		GBM - Glioblastoma multiforme(114;0.156)	5	917	+			267					A0N0P0|B7Z2F3|B7Z702|E7ETN5|E9PC27|Q13655|Q6FHB1|Q6GTS4|Q7M4L5	Silent	SNP	ENST00000330540.2	37	c.801A>T	CCDS3009.1																																																																																				0.458	CD86-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000355671.1	NM_006889		51	92	0	0	0	1	0	51	92					T	121828209	A	T	121828209	2	4	197	1	0	0	0	0	0	0	0	1	3043	436	16	5		5	CD86	3	121828209	Silent	SNP	A	TCGA-HC-7078-01A-11D-2114-08	23844201	121828209	76194221	10	9138											
TRH	7200	broad.mit.edu	37	chr3	129695840	129695840	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caaaggagctgggaagaagaGgaggaggaggaagagagaga	18	1	20	2	0	0	4	0	0	0	4	0	12	0	10	0	6	1	1	0	6	4	0			TCGA-HC-7078-01A-11D-2114-08	TCGA-HC-7078-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31caea4-427d-4b58-8a66-08aa09f6d2ea	9f0ddd3a-9a58-4c8e-b5c0-756fac4c0c69	g.chr3:129695840G>A	ENST00000302649.3	+	3	1037	c.510G>A	c.(508-510)gaG>gaA	p.E170E	TRH_ENST00000507066.1_Silent_p.E166E	NM_007117.3	NP_009048.1	P20396	TRH_HUMAN	thyrotropin-releasing hormone	170					adult walking behavior (GO:0007628)|cell-cell signaling (GO:0007267)|eating behavior (GO:0042755)|histamine metabolic process (GO:0001692)|hormone-mediated signaling pathway (GO:0009755)|negative regulation of feeding behavior (GO:2000252)|negative regulation of glutamate secretion (GO:0014050)|positive regulation of gamma-aminobutyric acid secretion (GO:0014054)|positive regulation of insulin secretion (GO:0032024)|response to cold (GO:0009409)|response to corticosterone (GO:0051412)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)	thyrotropin-releasing hormone activity (GO:0008437)	p.E170E(1)		NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)	14						Gggaagaagaggaggaggagg	0.642																																					Esophageal Squamous(60;321 1330 17401 41911)	ENST00000302649.3																			1	Substitution - coding silent(1)	p.E170E(1)	prostate(1)	NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)	14						c.(508-510)gaG>gaA		thyrotropin-releasing hormone							33	35	34					3																	129695840		2202	4300	6502	SO:0001819	synonymous_variant	7200				cell-cell signaling|hormone-mediated signaling pathway	extracellular region|soluble fraction	neuropeptide hormone activity|thyrotropin-releasing hormone activity	g.chr3:129695840G>A		CCDS3066.1	3q13.3-q21	2013-02-28				ENSG00000170893		"Endogenous ligands"	12298	protein-coding gene	gene with protein product	"prothyroliberin"	613879				2126343, 1900134	Standard	NM_007117		Approved		uc003enc.4	P20396		ENST00000302649.3:c.510G>A	3.37:g.129695840G>A						TRH_ENST00000507066.1_Silent_p.E166E	p.E170E	NM_007117.3	NP_009048.1	P20396	TRH_HUMAN			3	1037	+			170					B2R8R1|Q2TB83	Silent	SNP	ENST00000302649.3	37	c.510G>A	CCDS3066.1																																																																																				0.642	TRH-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356592.1	NM_007117		3	55	0	0	0	1	0	3	55					A	129695840	G	A	129695840	2	1	197	1	0	0	0	0	0	0	0	1	16475	991	35	3		3	TRH	3	129695840	Silent	SNP	G	TCGA-HC-7078-01A-11D-2114-08	7867631	129695840	68326590	11	9139											
PIK3CA	5290	broad.mit.edu	37	chr3	178921553	178921553	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttgtgcaacctacgtgaaTgtaaatattcgagacattga	13	13	8	7	2	0	3	0	2	0	1	1	4	0	3	1	0	3	2	1	0	6	6	rs121913284		TCGA-HC-7078-01A-11D-2114-08	TCGA-HC-7078-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31caea4-427d-4b58-8a66-08aa09f6d2ea	9f0ddd3a-9a58-4c8e-b5c0-756fac4c0c69	g.chr3:178921553T>A	ENST00000263967.3	+	5	1192	c.1035T>A	c.(1033-1035)aaT>aaA	p.N345K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	345	C2 PI3K-type. {ECO:0000255|PROSITE- ProRule:PRU00880}.				angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.N345K(44)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	CCTACGTGAATGTAAATATTC	0.308		57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	ENST00000263967.3		57		Dom	yes		3	3q26.3	5290	Mis	"phosphoinositide-3-kinase, catalytic, alpha polypeptide"			"E, O"			"colorectal, gastric, gliobastoma, breast"		44	Substitution - Missense(44)	p.N345K(44)	breast(27)|endometrium(6)|large_intestine(6)|central_nervous_system(5)	NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269						c.(1033-1035)aaT>aaA		phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha							67	66	66					3																	178921553		1807	4074	5881	SO:0001583	missense	5290				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	g.chr3:178921553T>A		CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"phosphoinositide-3-kinase, catalytic, alpha polypeptide"			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.1035T>A	3.37:g.178921553T>A	ENSP00000263967:p.Asn345Lys	HNSCC(19;0.045)|TSP Lung(28;0.18)					p.N345K	NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		5	1192	+	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		345					Q14CW1|Q99762	Missense_Mutation	SNP	ENST00000263967.3	37	c.1035T>A	CCDS43171.1	.	.	.	.	.	.	.	.	.	.	T	16.01	3.002090	0.54254	.	.	ENSG00000121879	ENST00000263967	T	0.70164	-0.46	5.41	3.03	0.35002	C2 calcium-dependent membrane targeting (1);C2 calcium/lipid-binding domain, CaLB (1);Phosphoinositide 3-kinase, C2 (1);	0.000000	0.85682	D	0.000000	T	0.77745	0.4176	M	0.71581	2.175	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.75465	-0.3308	10	0.49607	T	0.09	-21.0442	9.7159	0.40274	0.0:0.1415:0.0:0.8585	.	345	P42336	PK3CA_HUMAN	K	345	ENSP00000263967:N345K	ENSP00000263967:N345K	N	+	3	2	PIK3CA	180404247	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.030000	0.41108	0.441000	0.26529	0.402000	0.26972	AAT		0.308	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2			6	62	0	0	0	1	0	6	62					A	178921553	T	A	178921553	3	1	197	1	0	0	0	0	1	0	0	0	11913	1461	51	5	1049	5	PIK3CA	3	178921553	Missense_Mutation	SNP	T	TCGA-HC-7078-01A-11D-2114-08	49225713	178921553	19100877	12	9140											
SLC26A1	10861	broad.mit.edu	37	chr4	985025	985025	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tgagggtgctgctgttggctCcgggctgcaggccgtcctgg	2	10	18	11	2	0	1	0	1	0	0	2	1	2	1	3	5	3	6	3	5	0	1	rs377629899		TCGA-HC-7078-01A-11D-2114-08	TCGA-HC-7078-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31caea4-427d-4b58-8a66-08aa09f6d2ea	9f0ddd3a-9a58-4c8e-b5c0-756fac4c0c69	g.chr4:985025C>T	ENST00000361661.2	-	3	844	c.467G>A	c.(466-468)gGa>gAa	p.G156E	SLC26A1_ENST00000398520.2_Missense_Mutation_p.G156E|IDUA_ENST00000453894.1_Intron|SLC26A1_ENST00000398516.2_Missense_Mutation_p.G156E|SLC26A1_ENST00000513138.1_5'Flank|IDUA_ENST00000247933.4_Intron	NM_213613.2	NP_998778.1	Q9H2B4	S26A1_HUMAN	solute carrier family 26 (anion exchanger), member 1	156					3'-phosphoadenosine 5'-phosphosulfate biosynthetic process (GO:0050428)|3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|carbohydrate metabolic process (GO:0005975)|chloride transport (GO:0006821)|glycosaminoglycan metabolic process (GO:0030203)|ion transport (GO:0006811)|oxalate transport (GO:0019532)|small molecule metabolic process (GO:0044281)|sulfate transmembrane transport (GO:1902358)|sulfate transport (GO:0008272)|transmembrane transport (GO:0055085)|xenobiotic metabolic process (GO:0006805)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	anion:anion antiporter activity (GO:0015301)|chloride transmembrane transporter activity (GO:0015108)|oxalate transmembrane transporter activity (GO:0019531)|secondary active sulfate transmembrane transporter activity (GO:0008271)|sulfate transmembrane transporter activity (GO:0015116)			central_nervous_system(1)|endometrium(4)|pancreas(1)|prostate(1)|skin(1)	8			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			GCTGTTGGCTCCGGGCTGCAG	0.687																																						ENST00000361661.2																			0				central_nervous_system(1)|endometrium(4)|pancreas(1)|prostate(1)|skin(1)	8						c.(466-468)gGa>gAa		solute carrier family 26 (anion exchanger), member 1		C	,GLU/GLY,GLU/GLY,GLU/GLY	1,4399		0,1,2199	33	35	34		,467,467,467	-1.4	0	4		34	0,8590		0,0,4295	no	intron,missense,missense,missense	IDUA,SLC26A1	NM_000203.3,NM_022042.2,NM_134425.1,NM_213613.2	,98,98,98	0,1,6494	TT,TC,CC		0.0,0.0227,0.0077	,benign,benign,benign	,156/702,156/225,156/702	985025	1,12989	2200	4295	6495	SO:0001583	missense	10861					integral to membrane|plasma membrane	secondary active sulfate transmembrane transporter activity	g.chr4:985025C>T	AF297659	CCDS33933.1, CCDS33934.1	4p16.3	2013-07-18	2013-07-18		ENSG00000145217	ENSG00000145217		"Solute carriers"	10993	protein-coding gene	gene with protein product		610130	"solute carrier family 26 (sulfate transporter), member 1"				Standard	NM_213613		Approved	SAT-1, EDM4	uc003gcc.3	Q9H2B4	OTTHUMG00000160003	ENST00000361661.2:c.467G>A	4.37:g.985025C>T	ENSP00000354721:p.Gly156Glu					IDUA_ENST00000247933.4_Intron|IDUA_ENST00000453894.1_Intron|SLC26A1_ENST00000398516.2_Missense_Mutation_p.G156E|SLC26A1_ENST00000398520.2_Missense_Mutation_p.G156E	p.G156E	NM_213613.2	NP_998778.1	Q9H2B4	S26A1_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.0158)		3	844	-			156					A8K9N2|Q7Z5R3|Q96BK0	Missense_Mutation	SNP	ENST00000361661.2	37	c.467G>A	CCDS33934.1	.	.	.	.	.	.	.	.	.	.	C	13.68	2.309454	0.40895	2.27E-4	0.0	ENSG00000145217	ENST00000398520;ENST00000361661;ENST00000398516	D;D;D	0.93426	-3.05;-3.22;-3.22	5.44	-1.42	0.08913	.	1.192680	0.05865	N	0.623684	T	0.81039	0.4740	N	0.03608	-0.345	0.09310	N	1	B;B	0.29936	0.002;0.262	B;B	0.26202	0.007;0.067	T	0.72623	-0.4237	10	0.34782	T	0.22	.	4.5599	0.12154	0.1158:0.2814:0.4546:0.1482	.	156;156	Q9H2B4;Q96BK0	S26A1_HUMAN;.	E	156	ENSP00000381532:G156E;ENSP00000354721:G156E;ENSP00000381528:G156E	ENSP00000354721:G156E	G	-	2	0	SLC26A1	975025	0.000000	0.05858	0.000000	0.03702	0.020000	0.10135	-0.496000	0.06436	-0.031000	0.13781	0.462000	0.41574	GGA		0.687	SLC26A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358783.1	NM_022042, NM_134425		23	32	0	0	0	1	0	23	32					T	985025	C	T	985025	3	4	197	1	0	0	0	0	1	0	0	0	14514	855	30	3	1749	3	SLC26A1	4	985025	Missense_Mutation	SNP	C	TCGA-HC-7078-01A-11D-2114-08		985025	190169251	13	9141											
HGFAC	3083	broad.mit.edu	37	chr4	3443797	3443797	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	ggccccttcctcctcctcctCctgctgctgctgctgctgcc	0	12	8	21	0	0	0	0	0	0	0	5	0	5	0	8	1	6	5	8	1	0	1	rs538844201	byFrequency	TCGA-HC-7078-01A-11D-2114-08	TCGA-HC-7078-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31caea4-427d-4b58-8a66-08aa09f6d2ea	9f0ddd3a-9a58-4c8e-b5c0-756fac4c0c69	g.chr4:3443797C>G	ENST00000382774.3	+	1	184	c.69C>G	c.(67-69)ctC>ctG	p.L23L	HGFAC_ENST00000511533.1_Silent_p.L23L	NM_001528.2	NP_001519.1	Q04756	HGFA_HUMAN	HGF activator	23					proteolysis (GO:0006508)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|rough endoplasmic reticulum (GO:0005791)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			central_nervous_system(3)|cervix(1)|endometrium(4)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	22				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)		TCCTCCTCCTCCTGCTGCTGC	0.716													C|||	2	0.000399361	8e-04	0	5008	,	,		13350	0		0	False		,,,				2504	0.001					ENST00000382774.3																			0				central_nervous_system(3)|cervix(1)|endometrium(4)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	22						c.(67-69)ctC>ctG		HGF activator							13	16	15					4																	3443797		1723	3604	5327	SO:0001819	synonymous_variant	3083				proteolysis	extracellular space	protein binding|serine-type endopeptidase activity	g.chr4:3443797C>G	D14012	CCDS3369.1, CCDS75098.1	4p16	2008-02-07			ENSG00000109758	ENSG00000109758	3.4.21.-		4894	protein-coding gene	gene with protein product		604552				7683665, 8226803	Standard	XM_005247966		Approved	HGFAP, HGFA	uc003ghc.3	Q04756	OTTHUMG00000090281	ENST00000382774.3:c.69C>G	4.37:g.3443797C>G						HGFAC_ENST00000511533.1_Silent_p.L23L	p.L23L	NM_001528.2	NP_001519.1	Q04756	HGFA_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.163)	1	184	+			23					Q14726|Q2M1W7|Q53X47	Silent	SNP	ENST00000382774.3	37	c.69C>G	CCDS3369.1																																																																																				0.716	HGFAC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206607.3			3	54	0	0	0	1	0	3	54					G	3443797	C	G	3443797	2	3	197	1	0	0	0	0	0	0	0	1	7086	842	30	5		5	HGFAC	4	3443797	Silent	SNP	C	TCGA-HC-7078-01A-11D-2114-08	2458772	3443797	187710479	14	9142											
KIAA1211	57482	broad.mit.edu	37	chr4	57181439	57181439	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccctaccgtcgtccctgagcGttccccacaccgccattctg	5	9	7	20	4	1	1	0	1	1	0	4	1	3	1	7	0	2	1	7	0	1	3			TCGA-HC-7078-01A-11D-2114-08	TCGA-HC-7078-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31caea4-427d-4b58-8a66-08aa09f6d2ea	9f0ddd3a-9a58-4c8e-b5c0-756fac4c0c69	g.chr4:57181439G>T	ENST00000504228.1	+	6	1876	c.1771G>T	c.(1771-1773)Gtt>Ttt	p.V591F	KIAA1211_ENST00000541073.1_Missense_Mutation_p.V584F|KIAA1211_ENST00000264229.6_Missense_Mutation_p.V591F			Q6ZU35	K1211_HUMAN	KIAA1211	591										endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1)	65	Glioma(25;0.08)|all_neural(26;0.101)					GTCCCTGAGCGTTCCCCACAC	0.672																																						ENST00000504228.1																			0				endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1)	65						c.(1771-1773)Gtt>Ttt		KIAA1211							17	23	21					4																	57181439		2055	4188	6243	SO:0001583	missense	57482							g.chr4:57181439G>T	AB033037	CCDS43230.1	4q12	2012-08-03			ENSG00000109265	ENSG00000109265			29219	protein-coding gene	gene with protein product						10574462, 11230166	Standard	NM_020722		Approved		uc003hbk.2	Q6ZU35	OTTHUMG00000160749	ENST00000504228.1:c.1771G>T	4.37:g.57181439G>T	ENSP00000423366:p.Val591Phe					KIAA1211_ENST00000541073.1_Missense_Mutation_p.V584F|KIAA1211_ENST00000264229.6_Missense_Mutation_p.V591F	p.V591F			Q6ZU35	K1211_HUMAN			6	1876	+	Glioma(25;0.08)|all_neural(26;0.101)		591					Q9NTE2|Q9NTP8|Q9ULK9	Missense_Mutation	SNP	ENST00000504228.1	37	c.1771G>T	CCDS43230.1	.	.	.	.	.	.	.	.	.	.	G	16.45	3.128125	0.56721	.	.	ENSG00000109265	ENST00000264229;ENST00000504228;ENST00000541073;ENST00000546221	T;T;T	0.02280	4.36;4.36;4.36	5.01	-6.14	0.02111	.	.	.	.	.	T	0.07683	0.0193	L	0.50333	1.59	0.43885	D	0.996507	D;D;D	0.89917	0.999;1.0;0.997	D;D;D	0.76071	0.979;0.987;0.943	T	0.00104	-1.2058	9	0.87932	D	0	-5.4906	17.0358	0.86474	0.216:0.0:0.784:0.0	.	584;584;591	B7ZVZ4;F5H1N7;Q6ZU35	.;.;K1211_HUMAN	F	591;591;584;501	ENSP00000264229:V591F;ENSP00000423366:V591F;ENSP00000444006:V584F	ENSP00000264229:V591F	V	+	1	0	KIAA1211	56876196	1.000000	0.71417	0.748000	0.31131	0.375000	0.29983	2.371000	0.44248	-1.293000	0.02362	-0.258000	0.10820	GTT		0.672	KIAA1211-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362097.2	NM_020722		12	19	1	0	0.0135373	1	0.0135373	12	19					T	57181439	G	T	57181439	3	4	197	1	0	0	0	0	1	0	0	0	8215	1145	40	5	1789	5	KIAA1211	4	57181439	Missense_Mutation	SNP	G	TCGA-HC-7078-01A-11D-2114-08	53737642	57181439	133972837	15	9143											
TRIML1	339976	broad.mit.edu	37	chr4	189060921	189060921	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcatttccagtcaaacgagcGtctggggaggctggccagca	9	7	14	11	2	2	0	1	0	1	0	3	2	3	1	2	4	3	3	2	4	1	1	rs112281664	byFrequency	TCGA-HC-7078-01A-11D-2114-08	TCGA-HC-7078-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31caea4-427d-4b58-8a66-08aa09f6d2ea	9f0ddd3a-9a58-4c8e-b5c0-756fac4c0c69	g.chr4:189060921G>A	ENST00000332517.3	+	1	349	c.209G>A	c.(208-210)cGt>cAt	p.R70H	RP11-366H4.3_ENST00000501322.2_RNA	NM_178556.3	NP_848651.2	Q8N9V2	TRIML_HUMAN	tripartite motif family-like 1	70					multicellular organismal development (GO:0007275)|protein ubiquitination (GO:0016567)		ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(3)|breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	60		all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062)		OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156)		TCAAACGAGCGTCTGGGGAGG	0.617													G|||	7	0.00139776	8e-04	0.0014	5008	,	,		17900	0.004		0	False		,,,				2504	0.001				Melanoma(31;213 1036 16579 23968 32372)	ENST00000332517.3																			0				NS(3)|breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	60						c.(208-210)cGt>cAt		tripartite motif family-like 1		G	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	59	63	62		209	3.8	0.7	4	dbSNP_132	62	0,8600		0,0,4300	no	missense	TRIML1	NM_178556.3	29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	70/469	189060921	1,13005	2203	4300	6503	SO:0001583	missense	339976				multicellular organismal development		ligase activity|zinc ion binding	g.chr4:189060921G>A	AK093499	CCDS3851.1	4q35.2	2013-01-09			ENSG00000184108	ENSG00000184108		"RING-type (C3HC4) zinc fingers"	26698	protein-coding gene	gene with protein product						12477932	Standard	NM_178556		Approved	FLJ36180, RNF209	uc003izm.1	Q8N9V2	OTTHUMG00000160237	ENST00000332517.3:c.209G>A	4.37:g.189060921G>A	ENSP00000327738:p.Arg70His						p.R70H	NM_178556.3	NP_848651.2	Q8N9V2	TRIML_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156)	1	349	+		all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062)	70					Q96BE5	Missense_Mutation	SNP	ENST00000332517.3	37	c.209G>A	CCDS3851.1	.	.	.	.	.	.	.	.	.	.	G	12.99	2.102479	0.37145	2.27E-4	0.0	ENSG00000184108	ENST00000332517	D	0.84370	-1.84	5.59	3.85	0.44370	Zinc finger, RING/FYVE/PHD-type (1);	0.000000	0.53938	D	0.000058	T	0.79661	0.4484	M	0.66939	2.045	0.09310	N	1	B	0.16603	0.018	B	0.08055	0.003	T	0.61589	-0.7032	10	0.13853	T	0.58	-18.3723	7.7439	0.28858	0.0831:0.0:0.7567:0.1602	.	70	Q8N9V2	TRIML_HUMAN	H	70	ENSP00000327738:R70H	ENSP00000327738:R70H	R	+	2	0	TRIML1	189297915	0.001000	0.12720	0.680000	0.29994	0.000000	0.00434	1.064000	0.30579	0.822000	0.34565	-0.181000	0.13052	CGT		0.617	TRIML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359813.1	NM_178556		43	59	0	0	0	1	0	43	59					A	189060921	G	A	189060921	3	1	197	1	0	0	0	0	1	0	0	0	16547	1145	40	1	211	1	TRIML1	4	189060921	Missense_Mutation	SNP	G	TCGA-HC-7078-01A-11D-2114-08	131879482	189060921	2093355	16	9144											
PCDHB7	56129	broad.mit.edu	37	chr5	140553994	140553994	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gactacgaggccctgcaggcGttcgagttccgcgtgggcgc	5	7	16	13	6	0	0	0	0	0	0	2	3	1	0	2	3	2	3	2	3	1	3	rs374392843		TCGA-HC-7078-01A-11D-2114-08	TCGA-HC-7078-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31caea4-427d-4b58-8a66-08aa09f6d2ea	9f0ddd3a-9a58-4c8e-b5c0-756fac4c0c69	g.chr5:140553994G>T	ENST00000231137.3	+	1	1752	c.1578G>T	c.(1576-1578)gcG>gcT	p.A526A		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN	protocadherin beta 7	526	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.A526A(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCCTGCAGGCGTTCGAGTTCC	0.706													g|||	1	0.000199681	0	0	5008	,	,		16269	0		0.001	False		,,,				2504	0					ENST00000231137.3																			1	Substitution - coding silent(1)	p.A526A(1)	lung(1)	NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						c.(1576-1578)gcG>gcT									62	68	66					5																	140553994		2203	4300	6503	SO:0001819	synonymous_variant	0				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140553994G>T	AF152500	CCDS4249.1	5q31	2010-01-26			ENSG00000113212	ENSG00000113212		"Cadherins / Protocadherins : Clustered"	8692	other	protocadherin		606333				10380929	Standard	NM_018940		Approved	PCDH-BETA7	uc003lit.3	Q9Y5E2	OTTHUMG00000129608	ENST00000231137.3:c.1578G>T	5.37:g.140553994G>T							p.A526A	NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1752	+			526			Cadherin 5.		A1L3Y8	Silent	SNP	ENST00000231137.3	37	c.1578G>T	CCDS4249.1																																																																																				0.706	PCDHB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251803.2	NM_018940		4	108	1	0	0.000602214	1	0.000611203	4	108					T	140553994	G	T	140553994	2	4	197	1	0	0	0	0	0	0	0	1	11547	1132	40	5		5	PCDHB7	5	140553994	Silent	SNP	G	TCGA-HC-7078-01A-11D-2114-08		140553994	40361266	17	9145											
GRIA1	2890	broad.mit.edu	37	chr5	153144140	153144140	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaggacctagcgaagcagaCagaaattgcctacgggacgc	14	4	13	10	3	0	3	0	0	0	3	0	6	0	5	2	2	4	1	2	2	4	3			TCGA-HC-7078-01A-11D-2114-08	TCGA-HC-7078-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31caea4-427d-4b58-8a66-08aa09f6d2ea	9f0ddd3a-9a58-4c8e-b5c0-756fac4c0c69	g.chr5:153144140C>A	ENST00000285900.5	+	12	2313	c.1970C>A	c.(1969-1971)aCa>aAa	p.T657K	GRIA1_ENST00000518783.1_Missense_Mutation_p.T667K|GRIA1_ENST00000340592.5_Missense_Mutation_p.T657K|GRIA1_ENST00000518142.1_Missense_Mutation_p.T577K|GRIA1_ENST00000521843.2_Missense_Mutation_p.T588K|GRIA1_ENST00000448073.4_Missense_Mutation_p.T667K	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1	657					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|long-term memory (GO:0007616)|receptor internalization (GO:0031623)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|axonal spine (GO:0044308)|cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|dendrite membrane (GO:0032590)|dendritic spine (GO:0043197)|endocytic vesicle membrane (GO:0030666)|endoplasmic reticulum (GO:0005783)|neuron spine (GO:0044309)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|PDZ domain binding (GO:0030165)			NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Perampanel(DB08883)|Sevoflurane(DB01236)	GCGAAGCAGACAGAAATTGCC	0.502																																						ENST00000285900.5																			0				NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81						c.(1969-1971)aCa>aAa		glutamate receptor, ionotropic, AMPA 1	Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)						115	95	102					5																	153144140		2203	4300	6503	SO:0001583	missense	0				synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding	g.chr5:153144140C>A		CCDS4322.1, CCDS47318.1, CCDS58986.1, CCDS58987.1, CCDS58988.1, CCDS58989.1	5q33	2012-08-29			ENSG00000155511	ENSG00000155511		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4571	protein-coding gene	gene with protein product		138248		GLUR1		1652753, 1319477	Standard	NM_000827		Approved	GluA1, GLURA	uc011dcy.2	P42261	OTTHUMG00000130148	ENST00000285900.5:c.1970C>A	5.37:g.153144140C>A	ENSP00000285900:p.Thr657Lys					GRIA1_ENST00000518142.1_Missense_Mutation_p.T577K|GRIA1_ENST00000448073.4_Missense_Mutation_p.T667K|GRIA1_ENST00000340592.5_Missense_Mutation_p.T657K|GRIA1_ENST00000518783.1_Missense_Mutation_p.T667K|GRIA1_ENST00000521843.2_Missense_Mutation_p.T588K	p.T657K	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		12	2313	+		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	657					B7Z2S0|B7Z2W8|B7Z3F6|B7Z9G9|D3DQI4|E7ESV8|Q2NKM6	Missense_Mutation	SNP	ENST00000285900.5	37	c.1970C>A	CCDS4322.1	.	.	.	.	.	.	.	.	.	.	C	29.6	5.018311	0.93404	.	.	ENSG00000155511	ENST00000285900;ENST00000544403;ENST00000518142;ENST00000537037;ENST00000340592;ENST00000521843;ENST00000544794;ENST00000518783;ENST00000448073	T;T;T;T;T;T;T	0.39406	1.08;1.08;1.08;1.08;1.08;1.08;1.08	5.27	5.27	0.74061	Ionotropic glutamate receptor (2);	0.000000	0.85682	D	0.000000	T	0.63698	0.2533	M	0.62016	1.91	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;0.964;1.0;1.0	D;D;P;D;D	0.91635	0.999;0.999;0.769;0.998;0.987	T	0.66618	-0.5878	10	0.87932	D	0	.	17.8573	0.88769	0.0:1.0:0.0:0.0	.	667;667;577;657;657	E7ESV8;B7Z9G9;B7Z3F6;P42261-2;P42261	.;.;.;.;GRIA1_HUMAN	K	657;657;577;611;657;590;588;667;667	ENSP00000285900:T657K;ENSP00000427920:T577K;ENSP00000339343:T657K;ENSP00000427864:T590K;ENSP00000442108:T588K;ENSP00000428994:T667K;ENSP00000415569:T667K	ENSP00000285900:T657K	T	+	2	0	GRIA1	153124333	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	7.642000	0.83385	2.447000	0.82792	0.561000	0.74099	ACA		0.502	GRIA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252456.3			13	39	1	0	2.61681e-11	1	2.73759e-11	13	39					A	153144140	C	A	153144140	3	1	197	1	0	0	0	0	1	0	0	0	6767	478	17	5	2016	5	GRIA1	5	153144140	Missense_Mutation	SNP	C	TCGA-HC-7078-01A-11D-2114-08	12590146	153144140	27771120	18	9146											
TNXB	7148	broad.mit.edu	37	chr6	32020750	32020750	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtgctgggttctgtgggggCgggagtttcttcctctgcag	2	13	17	9	2	3	0	0	0	3	0	4	1	4	1	1	4	2	4	1	4	0	3			TCGA-HC-7078-01A-11D-2114-08	TCGA-HC-7078-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31caea4-427d-4b58-8a66-08aa09f6d2ea	9f0ddd3a-9a58-4c8e-b5c0-756fac4c0c69	g.chr6:32020750C>T	ENST00000375244.3	-	26	9013	c.8812G>A	c.(8812-8814)Gcc>Acc	p.A2938T	TNXB_ENST00000375247.2_Missense_Mutation_p.A2936T			P22105	TENX_HUMAN	tenascin XB	2983	Fibronectin type-III 21. {ECO:0000255|PROSITE-ProRule:PRU00316}.				actin cytoskeleton organization (GO:0030036)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|collagen fibril organization (GO:0030199)|collagen metabolic process (GO:0032963)|elastic fiber assembly (GO:0048251)|extracellular fibril organization (GO:0043206)|fatty acid metabolic process (GO:0006631)|regulation of JUN kinase activity (GO:0043506)|single organismal cell-cell adhesion (GO:0016337)|triglyceride metabolic process (GO:0006641)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						TCTGTGGGGGCGGGAGTTTCT	0.642																																						ENST00000375244.3																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						c.(8812-8814)Gcc>Acc		tenascin XB							35	42	39					6																	32020750		1196	2515	3711	SO:0001583	missense	7148				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding	g.chr6:32020750C>T	X71923	CCDS4736.1	6p21.3	2013-02-11			ENSG00000168477	ENSG00000168477		"Fibrinogen C domain containing", "Fibronectin type III domain containing"	11976	protein-coding gene	gene with protein product		600985		TNXB1, TNXB2		8530023	Standard	NM_019105		Approved	TNXBS, XBS, XB	uc021yvf.2	P22105	OTTHUMG00000031088	ENST00000375244.3:c.8812G>A	6.37:g.32020750C>T	ENSP00000364393:p.Ala2938Thr					TNXB_ENST00000375247.2_Missense_Mutation_p.A2936T	p.A2938T			P22105	TENX_HUMAN			26	9013	-			2983			Fibronectin type-III 21.		P78530|P78531|Q08424|Q08AM0|Q08AM1|Q59GU7|Q5SQD3|Q5ST74|Q7L8Q4|Q8N4R1|Q9NPK9|Q9UC10|Q9UC11|Q9UC12|Q9UC13|Q9UMG7	Missense_Mutation	SNP	ENST00000375244.3	37	c.8812G>A		.	.	.	.	.	.	.	.	.	.	c	2.655	-0.281105	0.05642	.	.	ENSG00000168477	ENST00000375244;ENST00000375247	T;T	0.56776	0.62;0.44	4.47	-5.38	0.02673	.	2.255640	0.02328	N	0.073662	T	0.09686	0.0238	N	0.04508	-0.205	0.09310	N	1	B	0.11235	0.004	B	0.10450	0.005	T	0.06844	-1.0804	10	0.10902	T	0.67	.	11.6875	0.51494	0.0:0.6245:0.0:0.3755	.	2936	P22105-3	.	T	2938;2936	ENSP00000364393:A2938T;ENSP00000364396:A2936T	ENSP00000364393:A2938T	A	-	1	0	TNXB	32128728	0.000000	0.05858	0.001000	0.08648	0.046000	0.14306	-1.335000	0.02662	-1.013000	0.03383	-0.229000	0.12294	GCC		0.642	TNXB-001	PUTATIVE	not_organism_supported|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000268927.2	NM_019105		23	47	0	0	0	1	0	23	47					T	32020750	C	T	32020750	3	4	197	1	0	0	0	0	1	0	0	0	16343	768	27	1	5983	1	TNXB	6	32020750	Missense_Mutation	SNP	C	TCGA-HC-7078-01A-11D-2114-08		32020750	139094317	19	9147											
PLOD3	8985	broad.mit.edu	37	chr7	100855927	100855927	+	Frame_Shift_Del	DEL	G	G	-																															aaacacggccagaaacacccGggggggaggctggaagatgc																										TCGA-HC-7078-01A-11D-2114-08	TCGA-HC-7078-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31caea4-427d-4b58-8a66-08aa09f6d2ea	9f0ddd3a-9a58-4c8e-b5c0-756fac4c0c69	g.chr7:100855927delG	ENST00000223127.3	-	9	1287	c.889delC	c.(889-891)cggfs	p.R297fs		NM_001084.4	NP_001075.1	O60568	PLOD3_HUMAN	procollagen-lysine, 2-oxoglutarate 5-dioxygenase 3	297					basement membrane assembly (GO:0070831)|cellular protein modification process (GO:0006464)|cellular response to hormone stimulus (GO:0032870)|collagen fibril organization (GO:0030199)|endothelial cell morphogenesis (GO:0001886)|epidermis morphogenesis (GO:0048730)|extracellular matrix organization (GO:0030198)|in utero embryonic development (GO:0001701)|lung morphogenesis (GO:0060425)|neural tube development (GO:0021915)|protein localization (GO:0008104)|vasodilation (GO:0042311)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|procollagen galactosyltransferase activity (GO:0050211)|procollagen glucosyltransferase activity (GO:0033823)|procollagen-lysine 5-dioxygenase activity (GO:0008475)	p.R297fs*61(2)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	31	Lung NSC(181;0.168)|all_lung(186;0.215)				Succinic acid(DB00139)|Vitamin C(DB00126)	AGAAACACCCGGGGGGGAGGC	0.642																																						ENST00000223127.3																			2	Deletion - Frameshift(2)	p.R297fs*61(2)	large_intestine(2)	NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	31						c.(889-891)ggfs		procollagen-lysine, 2-oxoglutarate 5-dioxygenase 3	Succinic acid(DB00139)|Vitamin C(DB00126)						28	35	33					7																	100855927		2202	4297	6499	SO:0001589	frameshift_variant	8985				protein modification process	rough endoplasmic reticulum membrane	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein binding	g.chr7:100855927delG	AF046889	CCDS5715.1	7q22.1	2011-08-24			ENSG00000106397	ENSG00000106397	1.14.11.4		9083	protein-coding gene	gene with protein product	"lysyl hydroxlase 3"	603066				9724729, 9582318	Standard	NM_001084		Approved	LH3	uc003uyd.3	O60568	OTTHUMG00000157111	ENST00000223127.3:c.889delC	7.37:g.100855927delG	ENSP00000223127:p.Arg297fs						p.R297fs	NM_001084.4	NP_001075.1	O60568	PLOD3_HUMAN			9	1287	-	Lung NSC(181;0.168)|all_lung(186;0.215)		297					B2R6W6|Q540C3	Frame_Shift_Del	DEL	ENST00000223127.3	37	c.889delC	CCDS5715.1																																																																																				0.642	PLOD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347470.1			7	99						7	99	---	---	---	---	-	100855927	G	-	100855927	7	5	197	1	0	1	0	1	0	0	0	0	12103	1115	39	0	1371	0	PLOD3	7	100855927	Frame_Shift_Del	DEL	G	TCGA-HC-7078-01A-11D-2114-08		100855927	58282736	20	9148											
FOXP2	93986	broad.mit.edu	37	chr7	114271580	114271582	+	Splice_Site	DEL	CAG	CAG	-																															tggtttgggttttctgatacCagcagcagcagcagcagcag																										TCGA-HC-7078-01A-11D-2114-08	TCGA-HC-7078-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31caea4-427d-4b58-8a66-08aa09f6d2ea	9f0ddd3a-9a58-4c8e-b5c0-756fac4c0c69	g.chr7:114271580_114271582delCAG	ENST00000393494.2	+	6	876		c.e6-1		FOXP2_ENST00000393498.2_Intron|FOXP2_ENST00000350908.4_Splice_Site|FOXP2_ENST00000393489.3_Splice_Site|FOXP2_ENST00000408937.3_Splice_Site|AC020606.1_ENST00000580664.1_RNA|FOXP2_ENST00000378237.3_Splice_Site|FOXP2_ENST00000360232.4_Splice_Site|FOXP2_ENST00000393491.3_Splice_Site|FOXP2_ENST00000390668.3_Splice_Site|FOXP2_ENST00000403559.4_Splice_Site|FOXP2_ENST00000393500.3_Splice_Site			O15409	FOXP2_HUMAN	forkhead box P2						camera-type eye development (GO:0043010)|caudate nucleus development (GO:0021757)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|growth (GO:0040007)|lung alveolus development (GO:0048286)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of epithelial cell proliferation involved in lung morphogenesis (GO:0060501)|positive regulation of mesenchymal cell proliferation (GO:0002053)|post-embryonic development (GO:0009791)|putamen development (GO:0021758)|righting reflex (GO:0060013)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|vocal learning (GO:0042297)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.?(3)		breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						TTTCTGATACcagcagcagcagc	0.512																																						ENST00000393500.3																			3	Unknown(3)	p.?(3)	endometrium(3)	breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						c.e12-1		forkhead box P2																																				SO:0001630	splice_region_variant	93986				camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding	g.chr7:114271580_114271582delCAG	U80741	CCDS5760.1, CCDS5761.1, CCDS43635.1, CCDS5761.2, CCDS55154.1	7q31	2008-07-18			ENSG00000128573	ENSG00000128573		"Forkhead boxes"	13875	protein-coding gene	gene with protein product	"trinucleotide repeat containing 10", "forkhead/winged-helix transcription factor", "speech and language disorder 1", "CAG repeat protein 44"	605317		TNRC10, SPCH1		11586359, 9225980	Standard	NM_014491		Approved	CAGH44	uc003vgz.3	O15409	OTTHUMG00000023131	ENST00000393494.2:c.598-1CAG>-	7.37:g.114271589_114271591delCAG						FOXP2_ENST00000393489.3_Splice_Site|FOXP2_ENST00000360232.4_Splice_Site|FOXP2_ENST00000403559.4_Splice_Site|FOXP2_ENST00000390668.3_Splice_Site|FOXP2_ENST00000393494.2_Splice_Site|FOXP2_ENST00000408937.3_Splice_Site|FOXP2_ENST00000393498.2_Intron|FOXP2_ENST00000378237.3_Splice_Site|FOXP2_ENST00000350908.4_Splice_Site|FOXP2_ENST00000393491.3_Splice_Site				O15409	FOXP2_HUMAN			12	1192	+								A0AUV6|A4D0U8|A6NNW4|B4DLD9|Q6ZND1|Q75MJ3|Q8IZE0|Q8N0W2|Q8N6B7|Q8N6B8|Q8NFQ1|Q8NFQ2|Q8NFQ3|Q8NFQ4|Q8TD74	Splice_Site	DEL	ENST00000393494.2	37		CCDS5760.1																																																																																				0.512	FOXP2-014	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317366.1	NM_014491	Intron	2	4						2	4	---	---	---	---	-	114271582	CAG	-	114271580	8	5	197	1	0	1	0	1	0	0	1	0	6027	609	21	0		0	FOXP2	7	114271580	Splice_Site	DEL	CAG	TCGA-HC-7078-01A-11D-2114-08	13415653	114271580	44867083	21	9149											
TRIB1	10221	broad.mit.edu	37	chr8	126448347	126448347	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcccagcctacgtgagcccTgagatcctcaacaccactgg	9	7	9	16	1	1	2	1	2	0	1	2	3	2	2	5	1	5	0	5	1	2	1			TCGA-HC-7078-01A-11D-2114-08	TCGA-HC-7078-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31caea4-427d-4b58-8a66-08aa09f6d2ea	9f0ddd3a-9a58-4c8e-b5c0-756fac4c0c69	g.chr8:126448347T>C	ENST00000519576.1	+	2	323	c.60T>C	c.(58-60)ccT>ccC	p.P20P	TRIB1_ENST00000311922.3_Silent_p.P251P|TRIB1_ENST00000520847.1_Silent_p.P85P					tribbles pseudokinase 1											NS(1)|large_intestine(2)|lung(2)|prostate(2)|urinary_tract(1)	8	all_hematologic(1;4.97e-05)|Ovarian(258;0.00167)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)			ACGTGAGCCCTGAGATCCTCA	0.537																																						ENST00000311922.3																			0				NS(1)|large_intestine(2)|lung(2)|prostate(2)|urinary_tract(1)	8						c.(751-753)ccT>ccC		tribbles pseudokinase 1							85	74	78					8																	126448347		2203	4300	6503	SO:0001819	synonymous_variant	10221				JNK cascade|negative regulation of lipopolysaccharide-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of smooth muscle cell migration|negative regulation of smooth muscle cell proliferation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|regulation of MAP kinase activity|response to lipopolysaccharide	cytoplasm|nucleus	ATP binding|mitogen-activated protein kinase kinase binding|protein kinase activity|protein kinase inhibitor activity|transcription factor binding|ubiquitin protein ligase binding|ubiquitin-protein ligase regulator activity	g.chr8:126448347T>C	AF205437	CCDS6357.1, CCDS64971.1	8q24.13	2013-10-03	2013-10-03			ENSG00000173334			16891	protein-coding gene	gene with protein product		609461	"tribbles homolog 1 (Drosophila)"			9342215, 16715410	Standard	NM_001282985		Approved	C8FW, GIG2, TRB1	uc003yrx.3	Q96RU8		ENST00000519576.1:c.60T>C	8.37:g.126448347T>C						TRIB1_ENST00000519576.1_Silent_p.P20P|TRIB1_ENST00000520847.1_Silent_p.P85P	p.P251P	NM_025195.2	NP_079471.1	Q96RU8	TRIB1_HUMAN	STAD - Stomach adenocarcinoma(47;0.000918)		3	1335	+	all_hematologic(1;4.97e-05)|Ovarian(258;0.00167)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		251			Protein kinase.			Silent	SNP	ENST00000519576.1	37	c.753T>C																																																																																					0.537	TRIB1-003	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000381433.1	NM_025195		3	71	0	0	0	1	0	3	71					C	126448347	T	C	126448347	2	2	197	1	0	0	0	0	0	0	0	1	16479	1567	55	4		4	TRIB1	8	126448347	Silent	SNP	T	TCGA-HC-7078-01A-11D-2114-08		126448347	19915675	22	9150											
OR1Q1	158131	broad.mit.edu	37	chr9	125377695	125377695	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcatcatcctggtggtcctcCggatcccctcagccaagggc	6	8	11	16	1	2	0	2	0	0	0	6	1	6	1	6	4	1	1	6	4	1	0	rs544593447		TCGA-HC-7078-01A-11D-2114-08	TCGA-HC-7078-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31caea4-427d-4b58-8a66-08aa09f6d2ea	9f0ddd3a-9a58-4c8e-b5c0-756fac4c0c69	g.chr9:125377695C>T	ENST00000297913.2	+	1	748	c.679C>T	c.(679-681)Cgg>Tgg	p.R227W	RP11-64P14.7_ENST00000431442.1_RNA	NM_012364.1	NP_036496.1	Q15612	OR1Q1_HUMAN	olfactory receptor, family 1, subfamily Q, member 1	227					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(2)	17						GGTGGTCCTCCGGATCCCCTC	0.537													C|||	1	0.000199681	0	0	5008	,	,		20910	0		0	False		,,,				2504	0.001					ENST00000297913.2																			0				NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(2)	17						c.(679-681)Cgg>Tgg		olfactory receptor, family 1, subfamily Q, member 1							119	116	117					9																	125377695		2203	4300	6503	SO:0001583	missense	158131				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:125377695C>T		CCDS35125.1	9q33.2	2013-09-20			ENSG00000165202	ENSG00000165202		"GPCR / Class A : Olfactory receptors"	8223	protein-coding gene	gene with protein product				OR1Q2, OR1Q3			Standard	NM_012364		Approved	OST226, OR9-A, HSTPCR106, OST226OR9-A, TPCR106	uc011lyy.2	Q15612	OTTHUMG00000020615	ENST00000297913.2:c.679C>T	9.37:g.125377695C>T	ENSP00000297913:p.Arg227Trp					RP11-64P14.7_ENST00000431442.1_RNA	p.R227W	NM_012364.1	NP_036496.1	Q15612	OR1Q1_HUMAN			1	748	+			227					Q6IFN4|Q8NGR7|Q96R82	Missense_Mutation	SNP	ENST00000297913.2	37	c.679C>T	CCDS35125.1	.	.	.	.	.	.	.	.	.	.	C	10.94	1.492667	0.26774	.	.	ENSG00000165202	ENST00000297913	T	0.00269	8.37	5.57	-1.51	0.08664	GPCR, rhodopsin-like superfamily (1);	1.273640	0.05577	N	0.572082	T	0.00384	0.0012	H	0.94658	3.565	0.09310	N	1	B	0.27140	0.169	B	0.23419	0.046	T	0.46162	-0.9211	10	0.87932	D	0	-4.7971	10.9065	0.47084	0.7161:0.2116:0.0:0.0723	.	227	Q15612	OR1Q1_HUMAN	W	227	ENSP00000297913:R227W	ENSP00000297913:R227W	R	+	1	2	OR1Q1	124417516	0.000000	0.05858	0.000000	0.03702	0.376000	0.30014	-0.929000	0.03976	-0.081000	0.12662	0.650000	0.86243	CGG		0.537	OR1Q1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053946.1			10	129	0	0	0	1	0	10	129					T	125377695	C	T	125377695	3	4	197	1	0	0	0	0	1	0	0	0	10971	643	23	2	681	2	OR1Q1	9	125377695	Missense_Mutation	SNP	C	TCGA-HC-7078-01A-11D-2114-08		125377695	15835736	23	9151											
SH2D3C	10044	broad.mit.edu	37	chr9	130507135	130507135	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcccactctcggctgccaCgcacgggaggctggagctgg	5	6	15	15	3	1	0	0	0	1	0	2	2	1	2	2	5	3	4	2	5	0	0	rs200786276	byFrequency	TCGA-HC-7078-01A-11D-2114-08	TCGA-HC-7078-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31caea4-427d-4b58-8a66-08aa09f6d2ea	9f0ddd3a-9a58-4c8e-b5c0-756fac4c0c69	g.chr9:130507135C>T	ENST00000314830.8	-	7	1621	c.1508G>A	c.(1507-1509)cGt>cAt	p.R503H	SH2D3C_ENST00000471939.1_5'UTR|SH2D3C_ENST00000429553.1_Missense_Mutation_p.R149H|SH2D3C_ENST00000373276.3_Missense_Mutation_p.R435H|SH2D3C_ENST00000373277.4_Missense_Mutation_p.R346H|SH2D3C_ENST00000420366.1_Missense_Mutation_p.R345H|SH2D3C_ENST00000373274.3_Missense_Mutation_p.R343H	NM_170600.2	NP_733745.1	Q8N5H7	SH2D3_HUMAN	SH2 domain containing 3C	503					JNK cascade (GO:0007254)|positive regulation of signal transduction (GO:0009967)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|membrane (GO:0016020)	guanyl-nucleotide exchange factor activity (GO:0005085)|SH3/SH2 adaptor activity (GO:0005070)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						TCGGCTGCCACGCACGGGAGG	0.642													C|||	2	0.000399361	0	0	5008	,	,		14991	0.002		0	False		,,,				2504	0					ENST00000314830.8																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						c.(1507-1509)cGt>cAt		SH2 domain containing 3C							92	102	98					9																	130507135		2203	4300	6503	SO:0001583	missense	10044				JNK cascade|small GTPase mediated signal transduction	cytoplasm|membrane	guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity	g.chr9:130507135C>T	AF124251	CCDS6877.1, CCDS6878.1, CCDS48026.1, CCDS48028.1, CCDS59145.1	9q33.1-q33.3	2013-02-14	2002-01-14		ENSG00000095370	ENSG00000095370		"SH2 domain containing"	16884	protein-coding gene	gene with protein product		604722	"SH2 domain-containing 3C"			10187783	Standard	NM_170600		Approved	NSP3	uc004bsc.3	Q8N5H7	OTTHUMG00000020717	ENST00000314830.8:c.1508G>A	9.37:g.130507135C>T	ENSP00000317817:p.Arg503His					SH2D3C_ENST00000373277.4_Missense_Mutation_p.R346H|SH2D3C_ENST00000429553.1_Missense_Mutation_p.R149H|SH2D3C_ENST00000420366.1_Missense_Mutation_p.R345H|SH2D3C_ENST00000471939.1_5'UTR|SH2D3C_ENST00000373274.3_Missense_Mutation_p.R343H|SH2D3C_ENST00000373276.3_Missense_Mutation_p.R435H	p.R503H	NM_170600.2	NP_733745.1	Q8N5H7	SH2D3_HUMAN			7	1621	-			503					A8K5S8|E9PG48|Q5HYE5|Q5JU31|Q6UY42|Q8N6X3|Q9Y2X5	Missense_Mutation	SNP	ENST00000314830.8	37	c.1508G>A	CCDS6877.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	13.89	2.372707	0.42003	.	.	ENSG00000095370	ENST00000373277;ENST00000420366;ENST00000373276;ENST00000373274;ENST00000429553;ENST00000314830	T;T;T;T;T;T	0.41758	0.99;0.99;0.99;0.99;0.99;0.99	5.5	1.41	0.22369	.	0.347798	0.31949	N	0.006803	T	0.29491	0.0735	L	0.36672	1.1	0.09310	N	1	P;D;D;P;D	0.60160	0.923;0.968;0.987;0.939;0.969	B;B;B;B;B	0.44085	0.183;0.27;0.361;0.44;0.34	T	0.17471	-1.0368	10	0.56958	D	0.05	-23.3977	4.8962	0.13751	0.0:0.4988:0.2329:0.2683	.	343;503;435;346;345	E9PG48;Q8N5H7;E7EUN5;Q8N5H7-2;Q8N5H7-5	.;SH2D3_HUMAN;.;.;.	H	346;345;435;343;149;503	ENSP00000362374:R346H;ENSP00000388536:R345H;ENSP00000362373:R435H;ENSP00000362371:R343H;ENSP00000394632:R149H;ENSP00000317817:R503H	ENSP00000317817:R503H	R	-	2	0	SH2D3C	129546956	0.328000	0.24687	0.011000	0.14972	0.962000	0.63368	1.511000	0.35801	0.295000	0.22570	0.462000	0.41574	CGT		0.642	SH2D3C-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000054264.1	NM_005489		6	266	0	0	0	1	0	6	266					T	130507135	C	T	130507135	3	4	197	1	0	0	0	0	1	0	0	0	14234	536	19	1	1098	1	SH2D3C	9	130507135	Missense_Mutation	SNP	C	TCGA-HC-7078-01A-11D-2114-08	5129440	130507135	10706296	24	9152											
MUC5B	727897	broad.mit.edu	37	chr11	1272259	1272259	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccagcacggccaccacacccGcagccaccagctccaaagcc	11	1	7	22	2	0	0	0	0	0	0	1	0	1	0	8	1	4	3	8	1	1	0	rs201216315	byFrequency	TCGA-HC-7078-01A-11D-2114-08	TCGA-HC-7078-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31caea4-427d-4b58-8a66-08aa09f6d2ea	9f0ddd3a-9a58-4c8e-b5c0-756fac4c0c69	g.chr11:1272259G>A	ENST00000529681.1	+	31	14207	c.14149G>A	c.(14149-14151)Gca>Aca	p.A4717T	RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000447027.1_Missense_Mutation_p.A4720T	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	4717	23 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich.				cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		caccacacccgcagccaccag	0.612													a|||	3	0.000599042	0	0	5008	,	,		19348	0.003		0	False		,,,				2504	0					ENST00000447027.1																			0				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137						c.(14158-14160)Gca>Aca		mucin 5B, oligomeric mucus/gel-forming																																				SO:0001583	missense	727897				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	g.chr11:1272259G>A	U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"Mucins"	7516	protein-coding gene	gene with protein product		600770	"mucin 5, subtype B, tracheobronchial"	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.14149G>A	11.37:g.1272259G>A	ENSP00000436812:p.Ala4717Thr					MUC5B_ENST00000529681.1_Missense_Mutation_p.A4717T	p.A4720T			Q9HC84	MUC5B_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)	31	14216	+		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	4717			23 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich.		O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Missense_Mutation	SNP	ENST00000529681.1	37	c.14158G>A	CCDS44515.2	.	.	.	.	.	.	.	.	.	.	-	2.223	-0.378008	0.05000	.	.	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637;ENST00000535652	T;T	0.15487	2.42;2.6	1.37	-2.74	0.05932	.	.	.	.	.	T	0.05456	0.0144	N	0.03000	-0.44	0.09310	N	1	B	0.14438	0.01	B	0.06405	0.002	T	0.30475	-0.9977	9	0.87932	D	0	.	0.9402	0.01354	0.3251:0.2839:0.2482:0.1428	.	4720	E9PBJ0	.	T	4717;4720;4661;490	ENSP00000436812:A4717T;ENSP00000415793:A4720T	ENSP00000343037:A4661T	A	+	1	0	MUC5B	1228835	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-5.968000	0.00088	-2.284000	0.00671	-2.831000	0.00106	GCA		0.612	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093		3	88	0	0	0	1	0	3	88					A	1272259	G	A	1272259	3	1	197	1	0	0	0	0	1	0	0	0	9979	1087	38	1	14280	1	MUC5B	11	1272259	Missense_Mutation	SNP	G	TCGA-HC-7078-01A-11D-2114-08		1272259	133734257	25	9153											
LMO2	4005	broad.mit.edu	37	chr11	33886237	33886237	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cggcagccacagaggtcgcaGctcaggcagtcctcgtgcca	8	5	13	15	3	1	1	1	0	0	1	4	1	2	1	3	3	3	4	3	3	0	0			TCGA-HC-7078-01A-11D-2114-08	TCGA-HC-7078-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31caea4-427d-4b58-8a66-08aa09f6d2ea	9f0ddd3a-9a58-4c8e-b5c0-756fac4c0c69	g.chr11:33886237G>A	ENST00000395833.3	-	2	597	c.168C>T	c.(166-168)agC>agT	p.S56S	LMO2_ENST00000257818.2_Silent_p.S125S	NM_001142315.1|NM_001142316.1	NP_001135787.1|NP_001135788.1	P25791	RBTN2_HUMAN	LIM domain only 2 (rhombotin-like 1)	56	LIM zinc-binding 1. {ECO:0000255|PROSITE- ProRule:PRU00125}.				cellular response to thyroid hormone stimulus (GO:0097067)|embryonic hemopoiesis (GO:0035162)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|multicellular organismal development (GO:0007275)|negative regulation of erythrocyte differentiation (GO:0045647)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	bHLH transcription factor binding (GO:0043425)|chromatin binding (GO:0003682)|cofactor binding (GO:0048037)|E-box binding (GO:0070888)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|zinc ion binding (GO:0008270)			NS(1)|endometrium(2)|large_intestine(1)|lung(7)|prostate(1)|stomach(1)|urinary_tract(1)	14						AGAGGTCGCAGCTCAGGCAGT	0.647			T	TRD@	T-ALL																																	ENST00000257818.2				Dom	yes		11	11p13	4005	T	LIM domain only 2 (rhombotin-like 1) (RBTN2)			L	TRD@		T-ALL		0				NS(1)|endometrium(2)|large_intestine(1)|lung(7)|prostate(1)|stomach(1)|urinary_tract(1)	14						c.(373-375)agC>agT		LIM domain only 2 (rhombotin-like 1)							49	43	45					11																	33886237		2202	4298	6500	SO:0001819	synonymous_variant	4005				multicellular organismal development	nucleus	protein binding|zinc ion binding	g.chr11:33886237G>A	X61118	CCDS7888.2, CCDS44567.1	11p13	2008-07-18			ENSG00000135363	ENSG00000135363			6642	protein-coding gene	gene with protein product	"T-cell translocation gene 2", "rhombotin-like 1"	180385		RBTNL1		2034676	Standard	NM_005574		Approved	TTG2, RHOM2, RBTN2	uc010rem.2	P25791	OTTHUMG00000157176	ENST00000395833.3:c.168C>T	11.37:g.33886237G>A						LMO2_ENST00000395833.3_Silent_p.S56S	p.S125S	NM_005574.3	NP_005565.2	P25791	RBTN2_HUMAN			5	1204	-			56			LIM zinc-binding 2.		Q9HD58	Silent	SNP	ENST00000395833.3	37	c.375C>T	CCDS44567.1																																																																																				0.647	LMO2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347777.1	NM_005574		3	73	0	0	0	1	0	3	73					A	33886237	G	A	33886237	2	1	197	1	0	0	0	0	0	0	0	1	8852	962	34	3		3	LMO2	11	33886237	Silent	SNP	G	TCGA-HC-7078-01A-11D-2114-08	32613978	33886237	101120279	26	9154											
EHD1	10938	broad.mit.edu	37	chr11	64622147	64622147	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcgccgtagccgtgcccgaaCggcccgttcatggtgccgtc	4	8	13	16	7	1	0	1	0	0	0	3	1	1	0	5	2	4	2	5	2	2	2			TCGA-HC-7078-01A-11D-2114-08	TCGA-HC-7078-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31caea4-427d-4b58-8a66-08aa09f6d2ea	9f0ddd3a-9a58-4c8e-b5c0-756fac4c0c69	g.chr11:64622147C>T	ENST00000320631.3	-	5	1517	c.1263G>A	c.(1261-1263)ccG>ccA	p.P421P	EHD1_ENST00000488711.1_5'UTR|EHD1_ENST00000359393.2_Silent_p.P421P	NM_001282445.1|NM_006795.2	NP_001269374.1|NP_006786.2	Q9H4M9	EHD1_HUMAN	EH-domain containing 1	421					blood coagulation (GO:0007596)|cellular response to nerve growth factor stimulus (GO:1990090)|cholesterol homeostasis (GO:0042632)|endocytic recycling (GO:0032456)|endocytosis (GO:0006897)|intracellular protein transport (GO:0006886)|low-density lipoprotein particle clearance (GO:0034383)|neuron projection development (GO:0031175)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of endocytic recycling (GO:2001137)|positive regulation of myoblast fusion (GO:1901741)|protein homooligomerization (GO:0051260)	early endosome membrane (GO:0031901)|endocytic vesicle (GO:0030139)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|lipid particle (GO:0005811)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|recycling endosome membrane (GO:0055038)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|Rab GTPase binding (GO:0017137)			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	12						CGTGCCCGAACGGCCCGTTCA	0.667																																						ENST00000320631.3																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	12						c.(1261-1263)ccG>ccA		EH-domain containing 1							116	106	109					11																	64622147		2201	4296	6497	SO:0001819	synonymous_variant	10938				blood coagulation|cholesterol homeostasis|endocytic recycling|intracellular protein transport|low-density lipoprotein particle clearance|positive regulation of cholesterol storage|protein homooligomerization	early endosome membrane|lipid particle|plasma membrane|platelet dense tubular network membrane|recycling endosome membrane	ATP binding|calcium ion binding|GTP binding|GTPase activity|protein binding	g.chr11:64622147C>T	AF099011	CCDS8084.1, CCDS73315.1	11q13	2013-01-10			ENSG00000110047	ENSG00000110047		"EF-hand domain containing"	3242	protein-coding gene	gene with protein product	"testilin"	605888		PAST1		10395801, 10673336	Standard	NM_001282444		Approved	H-PAST, HPAST1, FLJ42622, FLJ44618	uc001obu.1	Q9H4M9	OTTHUMG00000066832	ENST00000320631.3:c.1263G>A	11.37:g.64622147C>T						EHD1_ENST00000359393.2_Silent_p.P421P|EHD1_ENST00000488711.1_5'UTR	p.P421P	NM_006795.2	NP_006786.2	Q9H4M9	EHD1_HUMAN			5	1517	-			421					O14611|Q2M3Q4|Q9UNR3	Silent	SNP	ENST00000320631.3	37	c.1263G>A	CCDS8084.1																																																																																				0.667	EHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143229.2	NM_006795		13	147	0	0	0	1	0	13	147					T	64622147	C	T	64622147	2	4	197	1	0	0	0	0	0	0	0	1	4977	523	19	1		1	EHD1	11	64622147	Silent	SNP	C	TCGA-HC-7078-01A-11D-2114-08	30735910	64622147	70384369	27	9155											
MYO7A	4647	broad.mit.edu	37	chr11	76893185	76893185	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccactgctctaccatgacgaCgagggtgaccagctggtaag	10	7	12	12	2	1	2	0	2	1	0	1	4	1	2	3	2	3	3	3	2	2	2			TCGA-HC-7078-01A-11D-2114-08	TCGA-HC-7078-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31caea4-427d-4b58-8a66-08aa09f6d2ea	9f0ddd3a-9a58-4c8e-b5c0-756fac4c0c69	g.chr11:76893185C>T	ENST00000409709.3	+	24	3365	c.3093C>T	c.(3091-3093)gaC>gaT	p.D1031D	MYO7A_ENST00000458637.2_Silent_p.D1031D|MYO7A_ENST00000409619.2_Silent_p.D1020D|MYO7A_ENST00000409893.1_Silent_p.D1031D	NM_000260.3	NP_000251.3	Q13402	MYO7A_HUMAN	myosin VIIA	1031	MyTH4 1. {ECO:0000255|PROSITE- ProRule:PRU00359}.				actin filament-based movement (GO:0030048)|auditory receptor cell stereocilium organization (GO:0060088)|equilibrioception (GO:0050957)|eye photoreceptor cell development (GO:0042462)|intracellular protein transport (GO:0006886)|lysosome organization (GO:0007040)|metabolic process (GO:0008152)|phagolysosome assembly (GO:0001845)|pigment granule transport (GO:0051904)|post-embryonic organ morphogenesis (GO:0048563)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|melanosome (GO:0042470)|myosin VII complex (GO:0031477)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|stereocilium (GO:0032420)|synapse (GO:0045202)	actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|spectrin binding (GO:0030507)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						ACCATGACGACGAGGGTGACC	0.602																																						ENST00000409709.3																			0				NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						c.(3091-3093)gaC>gaT		myosin VIIA							45	52	50					11																	76893185		2101	4206	6307	SO:0001819	synonymous_variant	4647				actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception	cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse	actin binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr11:76893185C>T	U39226	CCDS53683.1, CCDS53684.1, CCDS53685.1	11q13.5	2013-01-08	2005-09-12		ENSG00000137474	ENSG00000137474		"A-kinase anchor proteins", "Myosins / Myosin superfamily : Class VII"	7606	protein-coding gene	gene with protein product		276903	"myosin VIIA (Usher syndrome 1B (autosomal recessive, severe))"	USH1B, DFNB2, DFNA11		8884266	Standard	NM_000260		Approved	NSRD2	uc001oyb.2	Q13402	OTTHUMG00000152822	ENST00000409709.3:c.3093C>T	11.37:g.76893185C>T						MYO7A_ENST00000458637.2_Silent_p.D1031D|MYO7A_ENST00000409619.2_Silent_p.D1020D|MYO7A_ENST00000409893.1_Silent_p.D1031D	p.D1031D	NM_000260.3	NP_000251.3	Q13402	MYO7A_HUMAN			24	3365	+			1031			MyTH4 1.		B9A011|F8VUN5|P78427|Q13321|Q14785|Q92821|Q92822	Silent	SNP	ENST00000409709.3	37	c.3093C>T	CCDS53683.1																																																																																				0.602	MYO7A-001	KNOWN	non_canonical_conserved|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000328133.1	NM_000260		5	118	0	0	0	1	0	5	118					T	76893185	C	T	76893185	2	4	197	1	0	0	0	0	0	0	0	1	10082	535	19	1		1	MYO7A	11	76893185	Silent	SNP	C	TCGA-HC-7078-01A-11D-2114-08	12271038	76893185	58113331	28	9156											
EMG1	10436	broad.mit.edu	37	chr12	7080212	7080213	+	Splice_Site	INS	-	-	C																															acaagatcggaggccgtagtINSttattgtggtgctggaaggg																								rs11428482|rs374779752|rs17857448		TCGA-HC-7078-01A-11D-2114-08	TCGA-HC-7078-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31caea4-427d-4b58-8a66-08aa09f6d2ea	9f0ddd3a-9a58-4c8e-b5c0-756fac4c0c69	g.chr12:7080212_7080213insC	ENST00000261406.6	+	2	267_268	c.124_125insC	c.(124-126)ttt>tCtt	p.F42fs	PHB2_ENST00000546111.1_5'Flank|PHB2_ENST00000544134.1_5'Flank|EMG1_ENST00000546220.1_3'UTR|PHB2_ENST00000440277.1_5'Flank|PHB2_ENST00000535923.1_5'Flank|PHB2_ENST00000399433.2_5'Flank|PHB2_ENST00000542912.1_5'Flank	NM_006331.7	NP_006322.4			EMG1 N1-specific pseudouridine methyltransferase																		GAGGCCGTAGTTTATTGTGGTG	0.569																																						ENST00000546220.1																			0													EMG1 N1-specific pseudouridine methyltransferase				3746,4		1873,0,2						5.4	1		dbSNP_120	28	7902,2		3951,0,1	no	frameshift	EMG1	NM_006331.7		5824,0,3	A1A1,A1R,RR		0.0253,0.1067,0.0515				11648,6				SO:0001630	splice_region_variant	10436				ribosomal small subunit biogenesis	cytoplasm|nucleolus	rRNA (pseudouridine) methyltransferase activity|rRNA binding	g.chr12:7080212_7080213insC	U72514	CCDS73430.1	12p13	2013-05-22	2013-05-22			ENSG00000126749			16912	protein-coding gene	gene with protein product		611531	"EMG1 nucleolar protein homolog (S. cerevisiae)"			9074930, 11935223, 19463982	Standard	NM_006331		Approved	C2F, NEP1, Grcc2f	uc001qsh.4	Q92979		ENST00000261406.6:c.124-1->C	12.37:g.7080212_7080213insC						U47924.28_ENST00000261406.6_lincRNA|U47924.19_ENST00000564245.1_RNA				Q92979	NEP1_HUMAN			0	157_158	+									RNA	INS	ENST00000261406.6	37																																																																																						0.569	EMG1-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_006331	Frame_Shift_Ins	11	13						11	13	---	---	---	---	C	7080213	-	C	7080212	8	5	197	1	0	1	1	0	0	0	1	0	5090	1722	60	0	128	0	EMG1	12	7080212	Splice_Site	INS	-	TCGA-HC-7078-01A-11D-2114-08		7080212	126771683	29	9157											
ETV6	2120	broad.mit.edu	37	chr12	12037452	12037452	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaaaacttcatccgatgggaGgacaaagaatccaaaatatt	18	8	8	7	1	1	1	1	0	0	1	3	5	3	3	2	2	1	0	2	2	7	3			TCGA-HC-7078-01A-11D-2114-08	TCGA-HC-7078-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31caea4-427d-4b58-8a66-08aa09f6d2ea	9f0ddd3a-9a58-4c8e-b5c0-756fac4c0c69	g.chr12:12037452G>A	ENST00000396373.4	+	6	1357	c.1083G>A	c.(1081-1083)gaG>gaA	p.E361E		NM_001987.4	NP_001978.1	P41212	ETV6_HUMAN	ets variant 6	361					cell differentiation (GO:0030154)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)	protein domain specific binding (GO:0019904)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)		ETV6/JAK2(11)|ETV6/ITPR2(2)|ETV6/NTRK3(238)	breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(15)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(2;1.88e-12)|Acute lymphoblastic leukemia(2;6.91e-39)|all_hematologic(2;2.7e-36)				TCCGATGGGAGGACAAAGAAT	0.463			T	"NTRK3, RUNX1, PDGFRB, ABL1, MN1, ABL2, FACL6, CHIC2, ARNT, JAK2, EVI1, CDX2, STL, HLXB9, MDS2, PER1, SYK, TTL, FGFR3, PAX5"	"congenital fibrosarcoma, multiple leukemia and lymphoma,  secretory breast, MDS, ALL"																																	ENST00000396373.4				Dom	yes		12	12p13	2120	T	ets variant gene 6 (TEL oncogene)			"L, E, M"	"NTRK3, RUNX1, PDGFRB, ABL1, MN1, ABL2, FACL6, CHIC2, ARNT, JAK2, EVI1, CDX2, STL, HLXB9, MDS2, PER1, SYK, TTL, FGFR3, PAX5"		"congenital fibrosarcoma, multiple leukemia and lymphoma,  secretory breast, MDS, ALL"	ETV6/JAK2(11)|ETV6/ITPR2(2)|ETV6/NTRK3(238)	0				breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(15)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						c.(1081-1083)gaG>gaA		ets variant 6							145	131	136					12																	12037452		2203	4300	6503	SO:0001819	synonymous_variant	2120					cytoplasm|nucleolus	protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr12:12037452G>A	BC043399	CCDS8643.1	12p13	2014-09-17	2008-09-12		ENSG00000139083	ENSG00000139083			3495	protein-coding gene	gene with protein product	"TEL oncogene"	600618	"ets variant gene 6 (TEL oncogene)"			7731705	Standard	NM_001987		Approved	TEL	uc001qzz.3	P41212	OTTHUMG00000168538	ENST00000396373.4:c.1083G>A	12.37:g.12037452G>A							p.E361E	NM_001987.4	NP_001978.1	P41212	ETV6_HUMAN			6	1357	+		all_cancers(2;1.88e-12)|Acute lymphoblastic leukemia(2;6.91e-39)|all_hematologic(2;2.7e-36)	361					A3QVP6|A8K076|Q9UMF6|Q9UMF7|Q9UMG0	Silent	SNP	ENST00000396373.4	37	c.1083G>A	CCDS8643.1																																																																																				0.463	ETV6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400130.2	NM_001987		3	116	0	0	0	1	0	3	116					A	12037452	G	A	12037452	2	1	197	1	0	0	0	0	0	0	0	1	5283	991	35	3		3	ETV6	12	12037452	Silent	SNP	G	TCGA-HC-7078-01A-11D-2114-08	4957240	12037452	121814443	30	9158											
KRT5	3852	broad.mit.edu	37	chr12	52912785	52912785	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tctcagctctgagtccaggcGgccccgttcccccacgatgc	5	8	10	18	3	2	1	1	1	2	0	5	2	4	1	5	2	2	2	5	2	0	1			TCGA-HC-7078-01A-11D-2114-08	TCGA-HC-7078-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31caea4-427d-4b58-8a66-08aa09f6d2ea	9f0ddd3a-9a58-4c8e-b5c0-756fac4c0c69	g.chr12:52912785G>A	ENST00000252242.4	-	2	1105	c.715C>T	c.(715-717)Cgc>Tgc	p.R239C		NM_000424.3	NP_000415.2	P13647	K2C5_HUMAN	keratin 5	239	Coil 1B.|Rod.				cell junction assembly (GO:0034329)|epidermis development (GO:0008544)|hemidesmosome assembly (GO:0031581)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	scaffold protein binding (GO:0097110)|structural constituent of cytoskeleton (GO:0005200)			endometrium(5)|kidney(1)|large_intestine(8)|lung(15)|prostate(4)|skin(2)	35				BRCA - Breast invasive adenocarcinoma(357;0.189)		GAGTCCAGGCGGCCCCGTTCC	0.587																																						ENST00000252242.4																			0				endometrium(5)|kidney(1)|large_intestine(8)|lung(15)|prostate(4)|skin(2)	35						c.(715-717)Cgc>Tgc		keratin 5							183	166	172					12																	52912785		2203	4300	6503	SO:0001583	missense	3852				epidermis development|hemidesmosome assembly	cytosol|keratin filament	protein binding|structural constituent of cytoskeleton	g.chr12:52912785G>A		CCDS8830.1	12q13.13	2013-01-16	2008-08-01		ENSG00000186081	ENSG00000186081		"-", "Intermediate filaments type II, keratins (basic)"	6442	protein-coding gene	gene with protein product		148040	"epidermolysis bullosa simplex 2 Dowling-Meara/Kobner/Weber-Cockayne types", "keratin 5 (epidermolysis bullosa simplex, Dowling-Meara/Kobner/Weber-Cockayne types)"	EBS2		1713141, 16831889	Standard	NM_000424		Approved	KRT5A	uc001san.3	P13647	OTTHUMG00000169657	ENST00000252242.4:c.715C>T	12.37:g.52912785G>A	ENSP00000252242:p.Arg239Cys						p.R239C	NM_000424.3	NP_000415.2	P13647	K2C5_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.189)	2	1105	-			239			Coil 1B.|Rod.		Q6PI71|Q6UBJ0|Q8TA91	Missense_Mutation	SNP	ENST00000252242.4	37	c.715C>T	CCDS8830.1	.	.	.	.	.	.	.	.	.	.	G	11.69	1.712780	0.30413	.	.	ENSG00000186081	ENST00000252242;ENST00000456000;ENST00000549420	D;D	0.90676	-2.71;-2.71	5.31	4.41	0.53225	Filament (1);	0.000000	0.52532	D	0.000067	D	0.90981	0.7164	M	0.87180	2.865	0.53005	D	0.999967	P	0.42649	0.786	B	0.36378	0.223	D	0.92238	0.5798	10	0.87932	D	0	.	15.6638	0.77209	0.0:0.0:0.8624:0.1376	.	239	P13647	K2C5_HUMAN	C	239;204;129	ENSP00000252242:R239C;ENSP00000447209:R129C	ENSP00000252242:R239C	R	-	1	0	KRT5	51199052	0.993000	0.37304	0.999000	0.59377	0.663000	0.39108	2.165000	0.42396	1.449000	0.47699	0.655000	0.94253	CGC		0.587	KRT5-001	KNOWN	overlapping_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405312.1			6	272	0	0	0	1	0	6	272					A	52912785	G	A	52912785	3	1	197	1	0	0	0	0	1	0	0	0	8479	1116	39	2	1089	2	KRT5	12	52912785	Missense_Mutation	SNP	G	TCGA-HC-7078-01A-11D-2114-08	40875333	52912785	80939110	31	9159											
TXNRD1	7296	broad.mit.edu	37	chr12	104742131	104742131	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tgctttctcttcccctgcagGtattcacaacattgtctgtg	6	16	7	12	0	3	0	1	0	2	0	5	0	4	0	2	1	3	3	2	1	2	5			TCGA-HC-7078-01A-11D-2114-08	TCGA-HC-7078-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31caea4-427d-4b58-8a66-08aa09f6d2ea	9f0ddd3a-9a58-4c8e-b5c0-756fac4c0c69	g.chr12:104742131G>T	ENST00000529546.1	+	14	1543	c.1318G>T	c.(1318-1320)Gta>Tta	p.V440L	TXNRD1_ENST00000526390.1_Splice_Site_p.V522L|TXNRD1_ENST00000542918.1_Splice_Site_p.V528L|TXNRD1_ENST00000388854.3_Splice_Site_p.V530L|TXNRD1_ENST00000526950.1_Splice_Site_p.V547L|TXNRD1_ENST00000397736.2_Splice_Site_p.V522L|TXNRD1_ENST00000378070.4_3'UTR|TXNRD1_ENST00000429002.2_Splice_Site_p.V628L|TXNRD1_ENST00000525566.1_Splice_Site_p.V628L|TXNRD1_ENST00000524698.1_Splice_Site_p.V478L|TXNRD1_ENST00000526691.1_Splice_Site_p.V530L|TXNRD1_ENST00000354940.6_Splice_Site_p.V478L|TXNRD1_ENST00000427956.1_Splice_Site_p.V593L|TXNRD1_ENST00000503506.2_Splice_Site_p.V478L|TXNRD1_ENST00000540716.1_Splice_Site_p.V440L			Q16881	TRXR1_HUMAN	thioredoxin reductase 1	628					cell proliferation (GO:0008283)|cell redox homeostasis (GO:0045454)|cellular lipid metabolic process (GO:0044255)|mesoderm formation (GO:0001707)|nucleobase-containing small molecule interconversion (GO:0015949)|nucleobase-containing small molecule metabolic process (GO:0055086)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|NADP binding (GO:0050661)|protein disulfide oxidoreductase activity (GO:0015035)|thioredoxin-disulfide reductase activity (GO:0004791)			cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(5)|skin(1)|stomach(1)|urinary_tract(1)	16					Arsenic trioxide(DB01169)|Flavin adenine dinucleotide(DB03147)	TCCCCTGCAGGTATTCACAAC	0.498																																					Ovarian(139;555 1836 9186 9946 10884)	ENST00000526691.1																			0				cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(5)|skin(1)|stomach(1)|urinary_tract(1)	16						c.e15-1		thioredoxin reductase 1							154	147	149					12																	104742131		1971	4167	6138	SO:0001630	splice_region_variant	7296				cell redox homeostasis|cellular lipid metabolic process|electron transport chain|nucleobase, nucleoside and nucleotide interconversion|signal transduction|transport	cytosol|nucleolus	electron carrier activity|flavin adenine dinucleotide binding|NADP binding|protein disulfide oxidoreductase activity|thioredoxin-disulfide reductase activity	g.chr12:104742131G>T		CCDS53820.1, CCDS53821.1, CCDS53823.1, CCDS58274.1	12q23-q24.1	2012-03-01							12437	protein-coding gene	gene with protein product		601112				7589432	Standard	NM_001093771		Approved	TXNR, GRIM-12, Trxr1	uc021rcx.2	Q16881		ENST00000529546.1:c.1318-1G>T	12.37:g.104742131G>T						TXNRD1_ENST00000542918.1_Splice_Site_p.V528_splice|TXNRD1_ENST00000540716.1_Splice_Site_p.V440_splice|TXNRD1_ENST00000397736.2_Splice_Site_p.V522_splice|TXNRD1_ENST00000524698.1_Splice_Site_p.V478_splice|TXNRD1_ENST00000427956.1_Splice_Site_p.V593_splice|TXNRD1_ENST00000526390.1_Splice_Site_p.V522_splice|TXNRD1_ENST00000429002.2_Splice_Site_p.V628_splice|TXNRD1_ENST00000525566.1_Splice_Site_p.V628_splice|TXNRD1_ENST00000526950.1_Splice_Site_p.V547_splice|TXNRD1_ENST00000354940.6_Splice_Site_p.V478_splice|TXNRD1_ENST00000378070.4_3'UTR|TXNRD1_ENST00000503506.2_Splice_Site_p.V478_splice|TXNRD1_ENST00000388854.3_Splice_Site_p.V530_splice|TXNRD1_ENST00000529546.1_Splice_Site_p.V440_splice	p.V530_splice	NM_001261445.1|NM_003330.3	NP_001248374.1|NP_003321.3	Q16881	TRXR1_HUMAN			15	2044	+			628					B7Z1F4|B7Z3Y8|B7Z904|E9PMY9|F5H780|Q6FI31|Q6VB40|Q6VB41|Q6VB42|Q6VBP2|Q6VBP3|Q6VBP4|Q6VBP5|Q6VBP9|Q6VBQ0|Q6YNQ1|Q76P53|Q7LA96|Q8WVC8|Q99475|Q9UES8|Q9UH79	Splice_Site	SNP	ENST00000529546.1	37	c.1587_splice	CCDS58274.1	.	.	.	.	.	.	.	.	.	.	G	12.39	1.924431	0.34002	.	.	ENSG00000198431	ENST00000525566;ENST00000429002;ENST00000503506;ENST00000526691;ENST00000388854;ENST00000354940;ENST00000526390;ENST00000529546;ENST00000540716;ENST00000524698;ENST00000542918;ENST00000397736;ENST00000427956;ENST00000526950	D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.92495	-3.05;-3.05;-3.05;-3.05;-3.05;-3.05;-3.05;-3.05;-3.05;-3.05;-3.05;-3.05;-3.05;-3.05	5.66	1.22	0.21188	FAD/NAD-linked reductase, dimerisation (1);Pyridine nucleotide-disulphide oxidoreductase, dimerisation (2);	.	.	.	.	D	0.87334	0.6151	L	0.52573	1.65	0.33885	D	0.636564	B;B;B;B;B;B;B	0.10296	0.001;0.0;0.003;0.0;0.0;0.002;0.0	B;B;B;B;B;B;B	0.10450	0.003;0.002;0.005;0.001;0.001;0.005;0.003	T	0.80832	-0.1206	8	.	.	.	-0.7546	8.9724	0.35915	0.5089:0.0:0.4911:0.0	.	528;522;628;530;478;628;593	B7Z2S5;E2QRB9;B7Z904;Q16881-4;B2R5P6;Q16881;E7EW10	.;.;.;.;.;TRXR1_HUMAN;.	L	628;628;478;530;530;478;522;440;440;478;528;522;593;547	ENSP00000434516:V628L;ENSP00000412045:V628L;ENSP00000421934:V478L;ENSP00000435929:V530L;ENSP00000373506:V530L;ENSP00000347020:V478L;ENSP00000435123:V522L;ENSP00000434919:V440L;ENSP00000442709:V440L;ENSP00000433425:V478L;ENSP00000440978:V528L;ENSP00000380844:V522L;ENSP00000393328:V593L;ENSP00000432812:V547L	.	V	+	1	0	TXNRD1	103266261	1.000000	0.71417	0.721000	0.30653	0.840000	0.47671	1.008000	0.29872	0.173000	0.19788	0.650000	0.86243	GTA		0.498	TXNRD1-004	PUTATIVE	basic|exp_conf|CCDS|seleno	protein_coding	protein_coding	OTTHUMT00000389969.1	NM_003330	Missense_Mutation	63	119	1	0	3.54697e-40	1	3.82847e-40	63	119					T	104742131	G	T	104742131	5	4	197	1	0	0	0	0	0	0	1	0	16804	1275	44	5	1962	5	TXNRD1	12	104742131	Splice_Site	SNP	G	TCGA-HC-7078-01A-11D-2114-08	51829346	104742131	29109764	32	9160											
TRPV4	59341	broad.mit.edu	37	chr12	110230500	110230500	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccccgtcagcttcagcccaCgggtgaagtaaagggcattc	9	8	11	13	2	2	1	2	1	0	0	4	1	3	1	3	2	2	3	3	2	3	3	rs77975504		TCGA-HC-7078-01A-11D-2114-08	TCGA-HC-7078-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31caea4-427d-4b58-8a66-08aa09f6d2ea	9f0ddd3a-9a58-4c8e-b5c0-756fac4c0c69	g.chr12:110230500C>T	ENST00000418703.2	-	10	1875	c.1781G>A	c.(1780-1782)cGt>cAt	p.R594H	TRPV4_ENST00000541794.1_Missense_Mutation_p.R547H|TRPV4_ENST00000392719.2_Missense_Mutation_p.R547H|TRPV4_ENST00000261740.2_Missense_Mutation_p.R594H|TRPV4_ENST00000536838.1_Missense_Mutation_p.R560H|TRPV4_ENST00000346520.2_Missense_Mutation_p.R534H|TRPV4_ENST00000544971.1_Missense_Mutation_p.R487H|TRPV4_ENST00000537083.1_Missense_Mutation_p.R534H	NM_001177431.1	NP_001170902.1	Q9HBA0	TRPV4_HUMAN	transient receptor potential cation channel, subfamily V, member 4	594			R -> H (in SMDK and PSTD). {ECO:0000269|PubMed:19232556, ECO:0000269|PubMed:20503319, ECO:0000269|PubMed:20577006}.		actin cytoskeleton reorganization (GO:0031532)|actin filament organization (GO:0007015)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cell death (GO:0008219)|cell volume homeostasis (GO:0006884)|cell-cell junction assembly (GO:0007043)|cellular calcium ion homeostasis (GO:0006874)|cellular hypotonic response (GO:0071476)|cellular response to heat (GO:0034605)|cellular response to osmotic stress (GO:0071470)|cortical microtubule organization (GO:0043622)|hyperosmotic salinity response (GO:0042538)|ion transmembrane transport (GO:0034220)|microtubule polymerization (GO:0046785)|negative regulation of neuron projection development (GO:0010977)|osmosensory signaling pathway (GO:0007231)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of microtubule depolymerization (GO:0031117)|regulation of response to osmotic stress (GO:0047484)|response to mechanical stimulus (GO:0009612)|transmembrane transport (GO:0055085)|vasopressin secretion (GO:0030103)	adherens junction (GO:0005912)|cell surface (GO:0009986)|cilium (GO:0005929)|cortical actin cytoskeleton (GO:0030864)|cytoplasmic microtubule (GO:0005881)|cytoplasmic vesicle (GO:0031410)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|alpha-tubulin binding (GO:0043014)|ATP binding (GO:0005524)|beta-tubulin binding (GO:0048487)|calcium channel activity (GO:0005262)|calmodulin binding (GO:0005516)|cation channel activity (GO:0005261)|microtubule binding (GO:0008017)|osmosensor activity (GO:0005034)|protein kinase binding (GO:0019901)|protein kinase C binding (GO:0005080)|SH2 domain binding (GO:0042169)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(2)|skin(4)|stomach(1)	35						CTTCAGCCCACGGGTGAAGTA	0.592																																						ENST00000418703.2																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(2)|skin(4)|stomach(1)	35						c.(1780-1782)cGt>cAt		transient receptor potential cation channel, subfamily V, member 4							91	73	80					12																	110230500		2203	4300	6503	SO:0001583	missense	59341				actin cytoskeleton reorganization|actin filament organization|calcium ion import|cell death|cell volume homeostasis|cell-cell junction assembly|cellular hypotonic response|cortical microtubule organization|elevation of cytosolic calcium ion concentration|microtubule polymerization|negative regulation of neuron projection development|osmosensory signaling pathway|positive regulation of microtubule depolymerization|response to mechanical stimulus	cortical actin cytoskeleton|filopodium|focal adhesion|growth cone|integral to membrane|lamellipodium|ruffle membrane	actin filament binding|alpha-tubulin binding|beta-tubulin binding|calcium channel activity|calmodulin binding|microtubule binding|protein binding|protein kinase C binding|SH2 domain binding	g.chr12:110230500C>T	AF263523	CCDS9134.1, CCDS9135.1, CCDS53827.1, CCDS53828.1, CCDS53829.1	12q24.1	2014-09-17				ENSG00000111199		"Voltage-gated ion channels / Transient receptor potential cation channels", "Ankyrin repeat domain containing"	18083	protein-coding gene	gene with protein product	"osmosensitive transient receptor potential channel 4"	605427				11025659, 11081638, 16382100, 20037587	Standard	NM_147204		Approved	OTRPC4, TRP12, VROAC, VRL-2, VR-OAC, CMT2C	uc001tpk.2	Q9HBA0		ENST00000418703.2:c.1781G>A	12.37:g.110230500C>T	ENSP00000406191:p.Arg594His					TRPV4_ENST00000544971.1_Missense_Mutation_p.R487H|TRPV4_ENST00000536838.1_Missense_Mutation_p.R560H|TRPV4_ENST00000541794.1_Missense_Mutation_p.R547H|TRPV4_ENST00000537083.1_Missense_Mutation_p.R534H|TRPV4_ENST00000392719.2_Missense_Mutation_p.R547H|TRPV4_ENST00000346520.2_Missense_Mutation_p.R534H|TRPV4_ENST00000261740.2_Missense_Mutation_p.R594H	p.R594H	NM_001177431.1	NP_001170902.1	Q9HBA0	TRPV4_HUMAN			10	1875	-			594		R -> H (in SMDK and PSTD).			B7ZKQ6|Q17R79|Q2Y122|Q2Y123|Q2Y124|Q86YZ6|Q8NDY7|Q8NG64|Q96Q92|Q96RS7|Q9HBC0	Missense_Mutation	SNP	ENST00000418703.2	37	c.1781G>A	CCDS9134.1	.	.	.	.	.	.	.	.	.	.	C	35	5.498952	0.96355	.	.	ENSG00000111199	ENST00000418703;ENST00000261740;ENST00000392719;ENST00000346520;ENST00000544971;ENST00000537083;ENST00000541794;ENST00000536838	D;D;D;D;D;D;D;D	0.87809	-2.3;-2.3;-2.3;-2.3;-2.3;-2.3;-2.3;-2.3	6.06	6.06	0.98353	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.95082	0.8407	M	0.90082	3.085	0.80722	A	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.999;1.0;0.999;0.999;0.998	D	0.95169	0.8288	9	0.87932	D	0	-6.0622	19.6125	0.95613	0.0:1.0:0.0:0.0	.	534;594;487;547;560	Q9HBA0-2;Q9HBA0;Q9HBA0-6;Q9HBA0-4;Q9HBA0-5	.;TRPV4_HUMAN;.;.;.	H	594;594;547;534;487;534;547;560	ENSP00000406191:R594H;ENSP00000261740:R594H;ENSP00000376480:R547H;ENSP00000319003:R534H;ENSP00000443611:R487H;ENSP00000442738:R534H;ENSP00000442167:R547H;ENSP00000444336:R560H	ENSP00000261740:R594H	R	-	2	0	TRPV4	108714883	1.000000	0.71417	0.600000	0.28864	0.982000	0.71751	7.818000	0.86416	2.879000	0.98667	0.650000	0.86243	CGT		0.592	TRPV4-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403270.1	NM_021625		3	60	0	0	0	1	0	3	60					T	110230500	C	T	110230500	3	4	197	1	0	0	0	0	1	0	0	0	16595	536	19	1	858	1	TRPV4	12	110230500	Missense_Mutation	SNP	C	TCGA-HC-7078-01A-11D-2114-08	5488369	110230500	23621395	33	9161											
DOCK9	23348	broad.mit.edu	37	chr13	99457438	99457438	+	Frame_Shift_Del	DEL	T	T	-																															tcacctggatgtatgcatacTtagaatccagatccttaggg																										TCGA-HC-7078-01A-11D-2114-08	TCGA-HC-7078-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31caea4-427d-4b58-8a66-08aa09f6d2ea	9f0ddd3a-9a58-4c8e-b5c0-756fac4c0c69	g.chr13:99457438delT	ENST00000376460.1	-	52	5662	c.5582delA	c.(5581-5583)aagfs	p.K1861fs	DOCK9_ENST00000339416.2_Frame_Shift_Del_p.K1848fs	NM_001130048.1|NM_015296.2	NP_001123520.1|NP_056111.1	Q9BZ29	DOCK9_HUMAN	dedicator of cytokinesis 9	1862	DHR-2.				blood coagulation (GO:0007596)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(18)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					GTATGCATACTTAGAATCCAG	0.438																																						ENST00000376460.1																			0				breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(18)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	59						c.(5581-5583)agfs		dedicator of cytokinesis 9							86	82	83					13																	99457438		1913	4138	6051	SO:0001589	frameshift_variant	23348				blood coagulation	cytosol|endomembrane system|membrane	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	g.chr13:99457438delT	AF527605	CCDS45062.1	13q32.3	2013-01-10			ENSG00000088387	ENSG00000088387		"Pleckstrin homology (PH) domain containing"	14132	protein-coding gene	gene with protein product	"zizimin1"	607325				12172552, 12432077	Standard	NM_015296		Approved	KIAA1058, ZIZ1	uc001vnt.2	Q9BZ29	OTTHUMG00000017260	ENST00000376460.1:c.5582delA	13.37:g.99457438delT	ENSP00000365643:p.Lys1861fs					DOCK9_ENST00000339416.2_Frame_Shift_Del_p.K1848fs	p.K1861fs	NM_001130048.1|NM_015296.2	NP_001123520.1|NP_056111.1	Q9BZ29	DOCK9_HUMAN			52	5662	-	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		1862			DHR-2.		B3KX25|E9PFM9|Q5JUD4|Q5JUD6|Q5T2Q1|Q5TAN8|Q9BZ25|Q9BZ26|Q9BZ27|Q9BZ28|Q9UPU4	Frame_Shift_Del	DEL	ENST00000376460.1	37	c.5582delA	CCDS45062.1																																																																																				0.438	DOCK9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045566.1	NM_015296		2	4						2	4	---	---	---	---	-	99457438	T	-	99457438	7	5	197	1	0	1	0	1	0	0	0	0	4694	1609	56	0	648	0	DOCK9	13	99457438	Frame_Shift_Del	DEL	T	TCGA-HC-7078-01A-11D-2114-08		99457438	15712440	34	9162											
ADCY4	196883	broad.mit.edu	37	chr14	24789053	24789053	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttgaagtctgggactgaggcGaagaggacacaaacgcattc	13	7	13	8	2	1	3	0	2	1	1	2	6	1	5	0	3	1	1	0	3	3	2			TCGA-HC-7078-01A-11D-2114-08	TCGA-HC-7078-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31caea4-427d-4b58-8a66-08aa09f6d2ea	9f0ddd3a-9a58-4c8e-b5c0-756fac4c0c69	g.chr14:24789053G>A	ENST00000310677.4	-	22	2741	c.2628C>T	c.(2626-2628)ttC>ttT	p.F876F	ADCY4_ENST00000554068.2_Silent_p.F876F|ADCY4_ENST00000418030.2_Silent_p.F876F	NM_001198568.1|NM_001198592.1|NM_139247.3	NP_001185497.1|NP_001185521.1|NP_640340.2	Q8NFM4	ADCY4_HUMAN	adenylate cyclase 4	876					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cAMP biosynthetic process (GO:0006171)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(265;0.0192)		GGACTGAGGCGAAGAGGACAC	0.498																																						ENST00000310677.4																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						c.(2626-2628)ttC>ttT		adenylate cyclase 4							99	86	90					14																	24789053		2203	4300	6503	SO:0001819	synonymous_variant	196883				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding|protein binding	g.chr14:24789053G>A	AF497516	CCDS9627.1	14q11.2	2013-02-04			ENSG00000129467	ENSG00000129467	4.6.1.1	"Adenylate cyclases"	235	protein-coding gene	gene with protein product		600292				7766992	Standard	NM_001198592		Approved	AC4	uc001woy.3	Q8NFM4	OTTHUMG00000029347	ENST00000310677.4:c.2628C>T	14.37:g.24789053G>A						ADCY4_ENST00000418030.2_Silent_p.F876F|ADCY4_ENST00000554068.2_Silent_p.F876F	p.F876F	NM_001198568.1|NM_001198592.1|NM_139247.3	NP_001185497.1|NP_001185521.1|NP_640340.2	Q8NFM4	ADCY4_HUMAN		GBM - Glioblastoma multiforme(265;0.0192)	22	2741	-			876					B3KV74|D3DS75|Q17R40|Q6ZTM6|Q96ML7	Silent	SNP	ENST00000310677.4	37	c.2628C>T	CCDS9627.1																																																																																				0.498	ADCY4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073200.4			27	64	0	0	0	1	0	27	64					A	24789053	G	A	24789053	2	1	197	1	0	0	0	0	0	0	0	1	296	1049	37	2		2	ADCY4	14	24789053	Silent	SNP	G	TCGA-HC-7078-01A-11D-2114-08		24789053	82560487	35	9163											
CYFIP1	23191	broad.mit.edu	37	chr15	22945111	22945111	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgcaagctcttcgacctggcGctgcagggcctgcagctgtt	5	9	13	14	3	1	0	0	0	1	0	2	1	1	0	2	2	4	7	2	2	1	2			TCGA-HC-7078-01A-11D-2114-08	TCGA-HC-7078-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31caea4-427d-4b58-8a66-08aa09f6d2ea	9f0ddd3a-9a58-4c8e-b5c0-756fac4c0c69	g.chr15:22945111G>A	ENST00000313077.7	+	12	1307	c.1182G>A	c.(1180-1182)gcG>gcA	p.A394A	CYFIP1_ENST00000560848.1_Silent_p.A394A	NM_014608.2	NP_055423.1			cytoplasmic FMR1 interacting protein 1											endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(1)|lung(14)|ovary(4)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	40		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;2.22e-06)|Epithelial(43;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00101)		TCGACCTGGCGCTGCAGGGCC	0.706																																						ENST00000313077.7																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(1)|lung(14)|ovary(4)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	40						c.(1180-1182)gcG>gcA		cytoplasmic FMR1 interacting protein 1							18	19	19					15																	22945111		2201	4297	6498	SO:0001819	synonymous_variant	23191				axon extension|lamellipodium assembly|regulation of cell shape|ruffle organization	cell junction|lamellipodium|mRNA cap binding complex|perinuclear region of cytoplasm|ruffle|synapse|synaptosome	actin filament binding|Rac GTPase binding	g.chr15:22945111G>A	D38549	CCDS73695.1, CCDS73696.1	15q11	2008-07-18			ENSG00000068793	ENSG00000273749			13759	protein-coding gene	gene with protein product	"selective hybridizing clone", "cytoplasmic FMRP interacting protein 1"	606322				11438699	Standard	XM_005272543		Approved	KIAA0068, P140SRA-1, SHYC	uc001yus.3	Q7L576	OTTHUMG00000129100	ENST00000313077.7:c.1182G>A	15.37:g.22945111G>A						CYFIP1_ENST00000560848.1_Silent_p.A394A	p.A394A	NM_014608.2	NP_055423.1	Q7L576	CYFP1_HUMAN		all cancers(64;2.22e-06)|Epithelial(43;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00101)	12	1307	+		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)	394						Silent	SNP	ENST00000313077.7	37	c.1182G>A	CCDS10009.1																																																																																				0.706	CYFIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251136.2	NM_014608		11	16	0	0	0	1	0	11	16					A	22945111	G	A	22945111	2	1	197	1	0	0	0	0	0	0	0	1	4137	1074	38	1		1	CYFIP1	15	22945111	Silent	SNP	G	TCGA-HC-7078-01A-11D-2114-08		22945111	79586281	36	9164											
MSLNL	401827	broad.mit.edu	37	chr16	830799	830799	+	Intron	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	taggtgacggtgtgcacgggTaggtgacagctgtgtgcacg	7	9	18	7	3	0	2	0	2	0	0	0	2	0	2	0	4	3	4	0	4	2	2			TCGA-HC-7078-01A-11D-2114-08	TCGA-HC-7078-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31caea4-427d-4b58-8a66-08aa09f6d2ea	9f0ddd3a-9a58-4c8e-b5c0-756fac4c0c69	g.chr16:830799T>G	ENST00000442466.1	-	2	37				MSLNL_ENST00000293892.3_Missense_Mutation_p.T68P			Q96KJ4	MSLNL_HUMAN	mesothelin-like						cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(15)|ovary(2)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	36						TGTGCACGGGTAGGTGACAGC	0.592																																						ENST00000293892.3																			0				breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(15)|ovary(2)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	36						c.(202-204)Acc>Ccc		mesothelin-like							143	138	140					16																	830799		2127	4240	6367	SO:0001627	intron_variant	401827				cell adhesion	integral to membrane		g.chr16:830799T>G			16p13.3	2008-08-06	2008-07-04	2008-07-04	ENSG00000162006	ENSG00000162006			14170	protein-coding gene	gene with protein product			"chromosome 16 open reading frame 37"	C16orf37			Standard	NG_032123		Approved	MPFL		Q96KJ4		ENST00000442466.1:c.38-637A>C	16.37:g.830799T>G						MSLNL_ENST00000442466.1_Intron	p.T68P			Q96KJ4	MSLNL_HUMAN			3	201	-			0						Missense_Mutation	SNP	ENST00000442466.1	37	c.202A>C		.	.	.	.	.	.	.	.	.	.	-	0.050	-1.254173	0.01457	.	.	ENSG00000162006	ENST00000293892	T	0.23950	1.88	1.06	-2.13	0.07144	.	.	.	.	.	T	0.16854	0.0405	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.15065	-1.0450	5	.	.	.	.	5.6142	0.17422	0.0:0.2906:0.5047:0.2047	.	.	.	.	P	68	ENSP00000293892:T68P	.	T	-	1	0	MSLNL	770800	0.000000	0.05858	0.000000	0.03702	0.015000	0.08874	-5.354000	0.00129	-3.380000	0.00175	-1.687000	0.00730	ACC		0.592	MSLNL-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_001025190		5	261	0	0	0	1	0	5	261					G	830799	T	G	830799	1	3	197	0	1	0	0	0	0	0	0	0	9882	1638	57	5		5	MSLNL	16	830799	Intron	SNP	T	TCGA-HC-7078-01A-11D-2114-08		830799	89523954	37	9165											
EDC4	23644	broad.mit.edu	37	chr16	67913767	67913769	+	In_Frame_Del	DEL	CAG	CAG	-																															ccccagatcactgcctctccCagcagcagcagcagcggtag																										TCGA-HC-7078-01A-11D-2114-08	TCGA-HC-7078-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31caea4-427d-4b58-8a66-08aa09f6d2ea	9f0ddd3a-9a58-4c8e-b5c0-756fac4c0c69	g.chr16:67913767_67913769delCAG	ENST00000358933.5	+	16	2075_2077	c.1836_1838delCAG	c.(1834-1839)cccagc>ccc	p.S617del	CTC-479C5.10_ENST00000572067.1_lincRNA|AC040162.1_ENST00000408599.1_RNA	NM_014329.4	NP_055144.3	Q6P2E9	EDC4_HUMAN	enhancer of mRNA decapping 4	617	Ser-rich.				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)		CTGCCTCTCCcagcagcagcagc	0.611																																						ENST00000358933.5																			0				breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	41						c.(1834-1839)ccc>cc		enhancer of mRNA decapping 4																																				SO:0001651	inframe_deletion	23644				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding	g.chr16:67913767_67913769delCAG	U17474	CCDS10849.1	16q22.1	2008-02-05			ENSG00000038358	ENSG00000038358			17157	protein-coding gene	gene with protein product		606030				9067524	Standard	NM_014329		Approved	RCD-8, Ge-1, HEDLS	uc002eur.3	Q6P2E9	OTTHUMG00000137543	ENST00000358933.5:c.1836_1838delCAG	16.37:g.67913776_67913778delCAG	ENSP00000351811:p.Ser617del						p.PS612del	NM_014329.4	NP_055144.3	Q6P2E9	EDC4_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)	16	2075_2077	+		Ovarian(137;0.0563)	612			Ser-rich.		A6NGM1|A8K4T4|Q13025|Q13826|Q6ZR12|Q7Z6H7	In_Frame_Del	DEL	ENST00000358933.5	37	c.1836_1838delCAG	CCDS10849.1																																																																																				0.611	EDC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268874.2	NM_014329		7	91						7	91	---	---	---	---	-	67913769	CAG	-	67913767	7	5	197	1	0	1	0	1	0	0	0	0	4908	581	21	0	1898	0	EDC4	16	67913767	In_Frame_Del	DEL	CAG	TCGA-HC-7078-01A-11D-2114-08	67082968	67913767	22440986	38	9166											
CACNB1	782	broad.mit.edu	37	chr17	37334247	37334247	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggcactcacaggggggcacTgtgccagcttttccgaggcc	7	7	14	13	1	1	0	1	0	0	0	2	1	2	0	3	5	2	3	3	5	0	2			TCGA-HC-7078-01A-11D-2114-08	TCGA-HC-7078-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31caea4-427d-4b58-8a66-08aa09f6d2ea	9f0ddd3a-9a58-4c8e-b5c0-756fac4c0c69	g.chr17:37334247T>C	ENST00000394303.3	-	12	1343	c.1136A>G	c.(1135-1137)cAg>cGg	p.Q379R	RP5-906A24.2_ENST00000579256.1_RNA|CACNB1_ENST00000394310.3_Missense_Mutation_p.Q379R|CACNB1_ENST00000344140.5_Missense_Mutation_p.Q424R	NM_000723.4	NP_000714.3	Q02641	CACB1_HUMAN	calcium channel, voltage-dependent, beta 1 subunit	379					axon guidance (GO:0007411)|protein targeting to membrane (GO:0006612)|transport (GO:0006810)	sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|voltage-gated calcium channel activity (GO:0005245)			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(1)	16					Dronedarone(DB04855)|Ibutilide(DB00308)|Magnesium Sulfate(DB00653)|Nimodipine(DB00393)|Spironolactone(DB00421)|Verapamil(DB00661)	AGGGGGGCACTGTGCCAGCTT	0.542																																					Esophageal Squamous(5;100 366 38393 41452 45827)	ENST00000394303.3																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(1)	16						c.(1135-1137)cAg>cGg		calcium channel, voltage-dependent, beta 1 subunit	Ibutilide(DB00308)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Verapamil(DB00661)						123	118	120					17																	37334247		2203	4300	6503	SO:0001583	missense	782				axon guidance	voltage-gated calcium channel complex		g.chr17:37334247T>C		CCDS11334.1, CCDS42311.1, CCDS45665.1	17q21-q22	2013-03-20			ENSG00000067191	ENSG00000067191		"Calcium channel subunits"	1401	protein-coding gene	gene with protein product		114207		CACNLB1		8381767, 8395940	Standard	NM_000723		Approved		uc002hrm.2	Q02641	OTTHUMG00000133217	ENST00000394303.3:c.1136A>G	17.37:g.37334247T>C	ENSP00000377840:p.Gln379Arg					CACNB1_ENST00000394310.3_Missense_Mutation_p.Q379R|CACNB1_ENST00000344140.5_Missense_Mutation_p.Q424R	p.Q379R	NM_000723.4	NP_000714.3	Q02641	CACB1_HUMAN			12	1343	-			379					A8K114|O15331|Q02639|Q02640|Q8N3X9|Q9C085|Q9UD79	Missense_Mutation	SNP	ENST00000394303.3	37	c.1136A>G	CCDS42311.1	.	.	.	.	.	.	.	.	.	.	T	21.2	4.116421	0.77323	.	.	ENSG00000067191	ENST00000539338;ENST00000394303;ENST00000344140;ENST00000394310;ENST00000536613	D;D;D	0.83506	-1.73;-1.73;-1.73	5.12	5.12	0.69794	Guanylate kinase/L-type calcium channel (1);Guanylate kinase (1);	0.062472	0.64402	D	0.000004	D	0.92368	0.7578	M	0.90922	3.16	0.80722	D	1	P;P;D	0.55800	0.921;0.686;0.973	P;P;D	0.70487	0.866;0.825;0.969	D	0.93889	0.7178	10	0.87932	D	0	-11.8605	14.0397	0.64667	0.0:0.0:0.0:1.0	.	424;379;379	Q02641-2;Q02641-3;Q02641	.;.;CACB1_HUMAN	R	329;379;424;379;330	ENSP00000377840:Q379R;ENSP00000345461:Q424R;ENSP00000377847:Q379R	ENSP00000345461:Q424R	Q	-	2	0	CACNB1	34587773	1.000000	0.71417	1.000000	0.80357	0.597000	0.36814	7.739000	0.84976	2.159000	0.67721	0.383000	0.25322	CAG		0.542	CACNB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256945.3			61	123	0	0	0	1	0	61	123					C	37334247	T	C	37334247	3	2	197	1	0	0	0	0	1	0	0	0	2552	1580	55	4	777	4	CACNB1	17	37334247	Missense_Mutation	SNP	T	TCGA-HC-7078-01A-11D-2114-08		37334247	43860963	39	9167											
KIAA1267	284058	broad.mit.edu	37	chr17	44116470	44116470	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcacgggtggtggtgggttgAgcaagcgctctgcttttggc	4	11	18	8	2	1	1	0	1	1	0	1	1	1	1	0	5	3	5	0	5	1	3			TCGA-HC-7078-01A-11D-2114-08	TCGA-HC-7078-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31caea4-427d-4b58-8a66-08aa09f6d2ea	9f0ddd3a-9a58-4c8e-b5c0-756fac4c0c69	g.chr17:44116470A>C	ENST00000262419.6	-	9	2785	c.2315T>G	c.(2314-2316)cTc>cGc	p.L772R	KANSL1_ENST00000393476.3_Intron|KANSL1_ENST00000572904.1_Missense_Mutation_p.L772R|KANSL1_ENST00000574590.1_Missense_Mutation_p.L772R|KANSL1_ENST00000432791.1_Missense_Mutation_p.L772R|KANSL1_ENST00000575318.1_Intron	NM_001193466.1	NP_001180395	Q7Z3B3	KANL1_HUMAN	KAT8 regulatory NSL complex subunit 1	772					chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)	histone acetyltransferase complex (GO:0000123)|MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)											TGGTGGGTTGAGCAAGCGCTC	0.592																																						ENST00000262419.6																			0											c.(2314-2316)cTc>cGc		KAT8 regulatory NSL complex subunit 1							227	189	202					17																	44116470		2203	4300	6503	SO:0001583	missense	284058					MLL1 complex	protein binding	g.chr17:44116470A>C	BX538006	CCDS11503.1, CCDS11503.2, CCDS74084.1	17q21.31	2012-02-20	2012-02-20	2012-02-20	ENSG00000120071	ENSG00000120071			24565	protein-coding gene	gene with protein product	"centromere protein 36"	612452	"KIAA1267"	KIAA1267		10574462	Standard	NM_015443		Approved	DKFZP727C091, MSL1v1, CENP-36, NSL1	uc002ikd.3	Q7Z3B3		ENST00000262419.6:c.2315T>G	17.37:g.44116470A>C	ENSP00000262419:p.Leu772Arg					KANSL1_ENST00000432791.1_Missense_Mutation_p.L772R|KANSL1_ENST00000393476.3_Intron|KANSL1_ENST00000575318.1_Intron|KANSL1_ENST00000574590.1_Missense_Mutation_p.L772R|KANSL1_ENST00000572904.1_Missense_Mutation_p.L772R	p.L772R	NM_001193466.1	NP_001180395.1	Q7Z3B3	K1267_HUMAN			9	2785	-			772					A8K5E4|Q6AW85|Q8IYH1|Q9BRH0|Q9NTE7|Q9UFT0|Q9ULF3	Missense_Mutation	SNP	ENST00000262419.6	37	c.2315T>G	CCDS11503.1	.	.	.	.	.	.	.	.	.	.	A	13.63	2.294589	0.40594	.	.	ENSG00000120071	ENST00000262419;ENST00000432791	T;T	0.13657	2.57;2.57	5.93	4.86	0.63082	.	0.244385	0.35067	N	0.003462	T	0.13500	0.0327	N	0.19112	0.55	0.42116	D	0.991409	P;P;P	0.45176	0.801;0.852;0.852	P;P;P	0.50896	0.561;0.653;0.653	T	0.17653	-1.0362	10	0.24483	T	0.36	-5.0625	9.6466	0.39872	0.9211:0.0:0.0789:0.0	.	103;772;772	Q7Z3B3-2;C9JHY2;Q7Z3B3	.;.;K1267_HUMAN	R	772	ENSP00000262419:L772R;ENSP00000387393:L772R	ENSP00000262419:L772R	L	-	2	0	KIAA1267	41472317	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	2.270000	0.43355	1.081000	0.41110	0.533000	0.62120	CTC		0.592	KANSL1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440274.1	NM_015443		35	82	0	0	0	1	0	35	82					C	44116470	A	C	44116470	3	2	197	1	0	0	0	0	1	0	0	0	8219	304	11	5	1030	5	KIAA1267	17	44116470	Missense_Mutation	SNP	A	TCGA-HC-7078-01A-11D-2114-08	6782223	44116470	37078740	40	9168											
RECQL5	9400	broad.mit.edu	37	chr17	73627271	73627271	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	ctgatagaagaggttccactCccgcttgtgggcctcatctc	7	11	10	13	1	2	3	1	1	1	2	5	3	4	3	3	2	0	2	3	2	2	3			TCGA-HC-7078-01A-11D-2114-08	TCGA-HC-7078-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31caea4-427d-4b58-8a66-08aa09f6d2ea	9f0ddd3a-9a58-4c8e-b5c0-756fac4c0c69	g.chr17:73627271C>G	ENST00000317905.5	-	10	1666	c.1507G>C	c.(1507-1509)Gag>Cag	p.E503Q	RECQL5_ENST00000423245.2_Missense_Mutation_p.E476Q|SMIM5_ENST00000375215.3_5'Flank|RECQL5_ENST00000443199.2_5'UTR	NM_004259.6	NP_004250.4	O94762	RECQ5_HUMAN	RecQ protein-like 5	503	Interaction with POLR2A.				chromosome separation (GO:0051304)|DNA duplex unwinding (GO:0032508)|DNA metabolic process (GO:0006259)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|mitotic nuclear division (GO:0007067)|negative regulation of transcription elongation from RNA polymerase II promoter (GO:0034244)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|DNA helicase activity (GO:0003678)|nucleic acid binding (GO:0003676)|RNA polymerase II core binding (GO:0000993)			breast(1)|cervix(3)|endometrium(3)|kidney(7)|large_intestine(7)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	36	all_cancers(13;2.73e-08)|Breast(9;6.04e-09)|all_epithelial(9;6.79e-09)		all cancers(21;1.15e-06)|Epithelial(20;2.19e-06)|Lung(188;0.101)|LUSC - Lung squamous cell carcinoma(166;0.112)			AGGTTCCACTCCCGCTTGTGG	0.647								Other identified genes with known or suspected DNA repair function																														ENST00000317905.5																			0				breast(1)|cervix(3)|endometrium(3)|kidney(7)|large_intestine(7)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	36						c.(1507-1509)Gag>Cag	Other identified genes with known or suspected DNA repair function	RecQ protein-like 5							57	64	62					17																	73627271		2201	4295	6496	SO:0001583	missense	9400				DNA recombination|DNA repair	cytoplasm|nuclear membrane|nucleolus|nucleoplasm	ATP binding|ATP-dependent helicase activity|DNA helicase activity|nucleic acid binding	g.chr17:73627271C>G	AB006533	CCDS32735.1, CCDS42380.1, CCDS45777.1	17q25	2014-03-07	2014-03-07	2014-03-07	ENSG00000108469	ENSG00000108469			9950	protein-coding gene	gene with protein product	"RecQ protein 5"	603781				9878247	Standard	NM_004259		Approved	RecQ5, FLJ90603	uc010dgl.3	O94762		ENST00000317905.5:c.1507G>C	17.37:g.73627271C>G	ENSP00000317636:p.Glu503Gln					RECQL5_ENST00000423245.2_Missense_Mutation_p.E476Q|RECQL5_ENST00000443199.2_5'UTR	p.E503Q	NM_004259.6	NP_004250.4	O94762	RECQ5_HUMAN	all cancers(21;1.15e-06)|Epithelial(20;2.19e-06)|Lung(188;0.101)|LUSC - Lung squamous cell carcinoma(166;0.112)		10	1666	-	all_cancers(13;2.73e-08)|Breast(9;6.04e-09)|all_epithelial(9;6.79e-09)		503					Q9H0B1|Q9P1W7|Q9UNC8	Missense_Mutation	SNP	ENST00000317905.5	37	c.1507G>C	CCDS42380.1	.	.	.	.	.	.	.	.	.	.	C	15.37	2.814498	0.50527	.	.	ENSG00000108469	ENST00000443199;ENST00000423245;ENST00000317905	T;T	0.60672	0.17;0.2	5.69	5.69	0.88448	.	0.209149	0.42964	D	0.000635	T	0.68229	0.2978	M	0.66939	2.045	0.80722	D	1	P;P	0.51537	0.946;0.908	P;P	0.52031	0.688;0.596	T	0.66544	-0.5897	10	0.38643	T	0.18	-18.2244	18.7929	0.91982	0.0:1.0:0.0:0.0	.	503;476	O94762;Q6P4G0	RECQ5_HUMAN;.	Q	98;503;503	ENSP00000394820:E503Q;ENSP00000317636:E503Q	ENSP00000317636:E503Q	E	-	1	0	RECQL5	71138866	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	4.027000	0.57239	2.692000	0.91855	0.563000	0.77884	GAG		0.647	RECQL5-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448207.1	NM_004259		43	71	0	0	0	1	0	43	71					G	73627271	C	G	73627271	3	3	197	1	0	0	0	0	1	0	0	0	13203	864	30	5	1512	5	RECQL5	17	73627271	Missense_Mutation	SNP	C	TCGA-HC-7078-01A-11D-2114-08	29510801	73627271	7567939	41	9169											
SMAD2	4087	broad.mit.edu	37	chr18	45368305	45368305	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttcaatccagcaaggagtacTtgttaccgtctgccttctgt	8	14	8	11	1	3	0	1	0	2	0	4	1	4	1	3	1	4	3	3	1	4	5			TCGA-HC-7078-01A-11D-2114-08	TCGA-HC-7078-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31caea4-427d-4b58-8a66-08aa09f6d2ea	9f0ddd3a-9a58-4c8e-b5c0-756fac4c0c69	g.chr18:45368305T>C	ENST00000402690.2	-	11	1691	c.1297A>G	c.(1297-1299)Agt>Ggt	p.S433G	SMAD2_ENST00000262160.6_Missense_Mutation_p.S433G|SMAD2_ENST00000586040.1_Missense_Mutation_p.S403G|SMAD2_ENST00000356825.4_Missense_Mutation_p.S403G	NM_001003652.3	NP_001003652.1	Q15796	SMAD2_HUMAN	SMAD family member 2	433	MH2. {ECO:0000255|PROSITE- ProRule:PRU00439}.				activin receptor signaling pathway (GO:0032924)|anterior/posterior pattern specification (GO:0009952)|cell fate commitment (GO:0045165)|common-partner SMAD protein phosphorylation (GO:0007182)|developmental growth (GO:0048589)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic foregut morphogenesis (GO:0048617)|endoderm formation (GO:0001706)|gastrulation (GO:0007369)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|insulin secretion (GO:0030073)|intracellular signal transduction (GO:0035556)|lung development (GO:0030324)|mesoderm formation (GO:0001707)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|nodal signaling pathway (GO:0038092)|organ growth (GO:0035265)|palate development (GO:0060021)|pancreas development (GO:0031016)|paraxial mesoderm morphogenesis (GO:0048340)|pericardium development (GO:0060039)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of nodal signaling pathway involved in determination of lateral mesoderm left/right asymmetry (GO:1900224)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|post-embryonic development (GO:0009791)|primary miRNA processing (GO:0031053)|regulation of binding (GO:0051098)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|response to cholesterol (GO:0070723)|response to glucose (GO:0009749)|signal transduction involved in regulation of gene expression (GO:0023019)|SMAD protein complex assembly (GO:0007183)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ureteric bud development (GO:0001657)|zygotic specification of dorsal/ventral axis (GO:0007352)	activin responsive factor complex (GO:0032444)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMAD protein complex (GO:0071141)|SMAD2-SMAD3 protein complex (GO:0071144)|transcription factor complex (GO:0005667)	activating transcription factor binding (GO:0033613)|chromatin binding (GO:0003682)|co-SMAD binding (GO:0070410)|double-stranded DNA binding (GO:0003690)|enhancer binding (GO:0035326)|I-SMAD binding (GO:0070411)|metal ion binding (GO:0046872)|phosphatase binding (GO:0019902)|R-SMAD binding (GO:0070412)|sequence-specific DNA binding transcription factor activity (GO:0003700)|SMAD binding (GO:0046332)|transcription factor binding (GO:0008134)|transforming growth factor beta receptor binding (GO:0005160)|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity (GO:0030618)|type I transforming growth factor beta receptor binding (GO:0034713)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(21)|liver(1)|lung(8)|prostate(2)|urinary_tract(1)	43						CAAGGAGTACTTGTTACCGTC	0.413																																						ENST00000402690.2																			0				breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(21)|liver(1)|lung(8)|prostate(2)|urinary_tract(1)	43						c.(1297-1299)Agt>Ggt		SMAD family member 2							140	123	129					18																	45368305		2203	4300	6503	SO:0001583	missense	4087				anterior/posterior pattern formation|cell fate commitment|common-partner SMAD protein phosphorylation|intracellular signal transduction|mesoderm formation|negative regulation of transcription, DNA-dependent|palate development|paraxial mesoderm morphogenesis|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription from RNA polymerase II promoter|primary miRNA processing|regulation of binding|regulation of transforming growth factor beta receptor signaling pathway|response to cholesterol|SMAD protein complex assembly|transforming growth factor beta receptor signaling pathway|zygotic specification of dorsal/ventral axis	activin responsive factor complex|cytosol	activating transcription factor binding|co-SMAD binding|double-stranded DNA binding|I-SMAD binding|R-SMAD binding|sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity|type I transforming growth factor beta receptor binding|ubiquitin protein ligase binding	g.chr18:45368305T>C	U65019	CCDS11934.1	18q21	2006-11-06	2006-11-06	2004-05-26	ENSG00000175387	ENSG00000175387		"SMADs"	6768	protein-coding gene	gene with protein product		601366	"MAD, mothers against decapentaplegic homolog 2 (Drosophila)", "SMAD, mothers against DPP homolog 2 (Drosophila)"	MADH2		8752209, 8673135	Standard	NM_001003652		Approved	MADR2, JV18-1	uc002lcz.4	Q15796	OTTHUMG00000132652	ENST00000402690.2:c.1297A>G	18.37:g.45368305T>C	ENSP00000384449:p.Ser433Gly					SMAD2_ENST00000356825.4_Missense_Mutation_p.S403G|SMAD2_ENST00000262160.6_Missense_Mutation_p.S433G|SMAD2_ENST00000586040.1_Missense_Mutation_p.S403G	p.S433G	NM_001003652.3	NP_001003652.1	Q15796	SMAD2_HUMAN			11	1691	-			433			MH2.			Missense_Mutation	SNP	ENST00000402690.2	37	c.1297A>G	CCDS11934.1	.	.	.	.	.	.	.	.	.	.	T	23.8	4.463748	0.84425	.	.	ENSG00000175387	ENST00000262160;ENST00000356825;ENST00000402690	D;D;D	0.97529	-4.42;-4.42;-4.42	5.65	5.65	0.86999	SMAD domain-like (1);SMAD/FHA domain (1);SMAD domain, Dwarfin-type (3);	0.000000	0.85682	D	0.000000	D	0.98321	0.9443	M	0.83012	2.62	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.66196	0.921;0.942	D	0.99372	1.0920	10	0.87932	D	0	.	16.1778	0.81874	0.0:0.0:0.0:1.0	.	403;433	Q15796-2;Q15796	.;SMAD2_HUMAN	G	433;403;433	ENSP00000262160:S433G;ENSP00000349282:S403G;ENSP00000384449:S433G	ENSP00000262160:S433G	S	-	1	0	SMAD2	43622303	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.997000	0.88414	2.279000	0.76181	0.533000	0.62120	AGT		0.413	SMAD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450571.1	NM_005901		18	10	0	0	0	1	0	18	10					C	45368305	T	C	45368305	3	2	197	1	0	0	0	0	1	0	0	0	14758	1609	56	4	110	4	SMAD2	18	45368305	Missense_Mutation	SNP	T	TCGA-HC-7078-01A-11D-2114-08		45368305	32708943	42	9170											
SPPL2B	56928	broad.mit.edu	37	chr19	2345262	2345262	+	RNA	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ctcccccagggctgctggtgGcctactgccacaggtttgac	5	9	12	15	0	0	1	0	1	0	0	1	1	1	1	4	4	3	3	4	4	1	2			TCGA-HC-7078-01A-11D-2114-08	TCGA-HC-7078-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31caea4-427d-4b58-8a66-08aa09f6d2ea	9f0ddd3a-9a58-4c8e-b5c0-756fac4c0c69	g.chr19:2345262G>C	ENST00000452401.2	+	0	1365							Q8TCT7	SPP2B_HUMAN	signal peptide peptidase like 2B						membrane protein ectodomain proteolysis (GO:0006509)|membrane protein intracellular domain proteolysis (GO:0031293)|regulation of immune response (GO:0050776)	endosome membrane (GO:0010008)|Golgi-associated vesicle membrane (GO:0030660)|integral component of cytoplasmic side of endoplasmic reticulum membrane (GO:0071458)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	aspartic endopeptidase activity, intramembrane cleaving (GO:0042500)|protein homodimerization activity (GO:0042803)						Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCTGCTGGTGGCCTACTGCCA	0.667																																						ENST00000452401.2																			0													signal peptide peptidase like 2B							65	70	68					19																	2345262		1991	4159	6150			56928					Golgi membrane|integral to membrane	aspartic-type endopeptidase activity	g.chr19:2345262G>C		CCDS74252.1, CCDS74253.1	19p13.3	2012-02-21			ENSG00000005206	ENSG00000005206			30627	protein-coding gene	gene with protein product	"intramembrane protease 4"	608239				10819331	Standard	NM_001077238		Approved	IMP4, PSL1, KIAA1532	uc002lvs.3	Q8TCT7			19.37:g.2345262G>C						AC005258.3_ENST00000590001.1_RNA				Q8TCT7	PSL1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	0	1365	+		Hepatocellular(1079;0.137)						D6W609|O60365|Q567S3|Q8IUH9|Q9BUY6|Q9H3M4|Q9NPN2|Q9P1Z6	RNA	SNP	ENST00000452401.2	37			.	.	.	.	.	.	.	.	.	.	G	21.9	4.220512	0.79464	.	.	ENSG00000005206	ENST00000452401	.	.	.	4.02	4.02	0.46733	.	0.185192	0.46442	D	0.000291	T	0.77685	0.4167	.	.	.	0.45718	D	0.998625	D;D	0.71674	0.998;0.988	D;D	0.67231	0.95;0.938	D	0.84795	0.0781	7	0.87932	D	0	-31.4517	14.7321	0.69388	0.0:0.0:1.0:0.0	.	430;429	Q8TCT7;C9JFE6	PSL1_HUMAN;.	P	429	.	ENSP00000404539:A429P	A	+	1	0	AC004410.1	2296262	1.000000	0.71417	1.000000	0.80357	0.702000	0.40608	9.697000	0.98697	1.801000	0.52704	0.401000	0.26515	GCC		0.667	SPPL2B-202	KNOWN	basic	processed_transcript	processed_transcript		NM_020172		30	50	0	0	0	1	0	30	50					C	2345262	G	C	2345262	1	2	197	0	1	0	0	0	0	0	0	0	15088	1203	42	5		5	SPPL2B	19	2345262	RNA	SNP	G	TCGA-HC-7078-01A-11D-2114-08		2345262	56783721	43	9171											
LRG1	116844	broad.mit.edu	37	chr19	4538288	4538288	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aggaagaggtagcgcaggtcCggctgcggcaagaggagatc	11	4	18	8	3	0	3	0	0	0	3	2	5	1	4	1	6	2	4	1	6	3	1	rs200554386		TCGA-HC-7078-01A-11D-2114-08	TCGA-HC-7078-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31caea4-427d-4b58-8a66-08aa09f6d2ea	9f0ddd3a-9a58-4c8e-b5c0-756fac4c0c69	g.chr19:4538288C>T	ENST00000306390.6	-	2	1168	c.708G>A	c.(706-708)ccG>ccA	p.P236P	LRG1_ENST00000586883.1_5'Flank|CTB-50L17.14_ENST00000586020.1_Intron	NM_052972.2	NP_443204.1	P02750	A2GL_HUMAN	leucine-rich alpha-2-glycoprotein 1	236					brown fat cell differentiation (GO:0050873)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)				NS(1)|endometrium(2)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	13		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18)		AGCGCAGGTCCGGCTGCGGCA	0.587																																						ENST00000306390.6																			0				NS(1)|endometrium(2)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	13						c.(706-708)ccG>ccA		leucine-rich alpha-2-glycoprotein 1							204	221	215					19																	4538288		2203	4300	6503	SO:0001819	synonymous_variant	116844					extracellular region|membrane		g.chr19:4538288C>T		CCDS12130.1	19p13.3	2013-09-20			ENSG00000171236	ENSG00000171236			29480	protein-coding gene	gene with protein product	"leucine rich alpha 2 glycoprotein"	611289				3856868, 12223515	Standard	NM_052972		Approved	LRG	uc002mau.3	P02750	OTTHUMG00000182010	ENST00000306390.6:c.708G>A	19.37:g.4538288C>T						CTB-50L17.14_ENST00000586020.1_Intron	p.P236P	NM_052972.2	NP_443204.1	P02750	A2GL_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18)	2	1168	-		Hepatocellular(1079;0.137)	236					Q8N4F5|Q96QZ4	Silent	SNP	ENST00000306390.6	37	c.708G>A	CCDS12130.1																																																																																				0.587	LRG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458654.2	NM_052972		43	418	0	0	0	1	0	43	418					T	4538288	C	T	4538288	2	4	197	1	0	0	0	0	0	0	0	1	8942	639	23	2		2	LRG1	19	4538288	Silent	SNP	C	TCGA-HC-7078-01A-11D-2114-08	2193026	4538288	54590695	44	9172											
PBX4	80714	broad.mit.edu	37	chr19	19729403	19729403	+	Frame_Shift_Del	DEL	G	G	-																															gtgtcgaggcgccgcggggcGgggggcgatggcgcggggcg																										TCGA-HC-7078-01A-11D-2114-08	TCGA-HC-7078-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31caea4-427d-4b58-8a66-08aa09f6d2ea	9f0ddd3a-9a58-4c8e-b5c0-756fac4c0c69	g.chr19:19729403delG	ENST00000251203.9	-	1	322	c.36delC	c.(34-36)cccfs	p.P12fs		NM_025245.2	NP_079521.1	Q9BYU1	PBX4_HUMAN	pre-B-cell leukemia homeobox 4	12					positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)|XY body (GO:0001741)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			large_intestine(1)|lung(4)|ovary(1)|prostate(3)	9						gccgcggggcggggggcgatg	0.766																																						ENST00000251203.8																			0				large_intestine(1)|lung(4)|ovary(1)|prostate(3)	9						c.(34-36)ccfs		pre-B-cell leukemia homeobox 4							3	3	3					19																	19729403		1807	3541	5348	SO:0001589	frameshift_variant	80714						sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr19:19729403delG	AJ300182	CCDS12406.1	19p13.11	2014-09-11	2007-01-30		ENSG00000105717			"Homeoboxes / TALE class"	13403	protein-coding gene	gene with protein product		608127	"pre-B-cell leukemia transcription factor 4"				Standard	NM_025245		Approved		uc002nmy.3	Q9BYU1	OTTHUMG00000172310	ENST00000251203.9:c.36delC	19.37:g.19729403delG	ENSP00000251203:p.Pro12fs						p.P12fs	NM_025245.2	NP_079521.1	Q9BYU1	PBX4_HUMAN			1	322	-			12					A5D8Y0|B3KUK9	Frame_Shift_Del	DEL	ENST00000251203.9	37	c.36delC	CCDS12406.1																																																																																				0.766	PBX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417784.6			2	4						2	4	---	---	---	---	-	19729403	G	-	19729403	7	5	197	1	0	1	0	1	0	0	0	0	11495	1103	39	0	1120	0	PBX4	19	19729403	Frame_Shift_Del	DEL	G	TCGA-HC-7078-01A-11D-2114-08	15191115	19729403	39399580	45	9173											
ZNF91	7644	broad.mit.edu	37	chr19	23543401	23543401	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acatttgtagggcttctctcCagtgtgtatcctcttatgtc	6	17	8	10	0	2	0	0	0	2	0	6	0	4	0	2	1	0	3	2	1	3	5			TCGA-HC-7078-01A-11D-2114-08	TCGA-HC-7078-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31caea4-427d-4b58-8a66-08aa09f6d2ea	9f0ddd3a-9a58-4c8e-b5c0-756fac4c0c69	g.chr19:23543401C>A	ENST00000300619.7	-	4	2585	c.2380G>T	c.(2380-2382)Gga>Tga	p.G794*	ZNF91_ENST00000599743.1_Intron|ZNF91_ENST00000397082.2_Nonsense_Mutation_p.G762*|ZNF91_ENST00000596528.1_5'Flank	NM_003430.2	NP_003421.2	Q05481	ZNF91_HUMAN	zinc finger protein 91	794					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)						all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)				GGCTTCTCTCCAGTGTGTATC	0.383																																						ENST00000300619.7																			0											c.(2380-2382)Gga>Tga		zinc finger protein 91							56	61	59					19																	23543401		2163	4277	6440	SO:0001587	stop_gained	7644					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:23543401C>A	M61871	CCDS42541.1, CCDS74322.1	19p12	2014-02-04	2006-05-12		ENSG00000167232	ENSG00000167232		"Zinc fingers, C2H2-type", "-"	13166	protein-coding gene	gene with protein product		603971	"zinc finger protein 91 (HPF7, HTF10)"			2023909, 2505992	Standard	XR_430154		Approved	HPF7, HTF10	uc002nre.3	Q05481	OTTHUMG00000183268	ENST00000300619.7:c.2380G>T	19.37:g.23543401C>A	ENSP00000300619:p.Gly794*					ZNF91_ENST00000599743.1_Intron|ZNF91_ENST00000397082.2_Nonsense_Mutation_p.G762*	p.G794*	NM_003430.2	NP_003421.2	Q05481	ZNF91_HUMAN			4	2585	-		all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)	794					A8K5E1|B7Z6G6	Nonsense_Mutation	SNP	ENST00000300619.7	37	c.2380G>T	CCDS42541.1	.	.	.	.	.	.	.	.	.	.	C	26.0	4.696499	0.88830	.	.	ENSG00000167232	ENST00000300619;ENST00000397082	.	.	.	1.52	1.52	0.23074	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.51188	T	0.08	.	5.2055	0.15289	0.0:0.803:0.0:0.197	.	.	.	.	X	794;762	.	ENSP00000300619:G794X	G	-	1	0	ZNF91	23335241	0.019000	0.18553	0.133000	0.22050	0.037000	0.13140	1.365000	0.34182	0.798000	0.33994	0.205000	0.17691	GGA		0.383	ZNF91-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465891.1	NM_003430		22	60	1	0	7.38237e-10	1	7.60608e-10	22	60					A	23543401	C	A	23543401	4	1	197	1	0	0	0	0	0	1	0	0	18197	603	21	5	1199	5	ZNF91	19	23543401	Nonsense_Mutation	SNP	C	TCGA-HC-7078-01A-11D-2114-08	3813998	23543401	35585582	46	9174											
ZNF546	339327	broad.mit.edu	37	chr19	40520472	40520472	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgcagaacttgctcgacatcGtagaattcatactggtgaga	12	11	10	8	2	1	3	1	1	0	3	3	5	1	3	0	1	4	3	0	1	4	4	rs199852460		TCGA-HC-7078-01A-11D-2114-08	TCGA-HC-7078-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31caea4-427d-4b58-8a66-08aa09f6d2ea	9f0ddd3a-9a58-4c8e-b5c0-756fac4c0c69	g.chr19:40520472G>A	ENST00000347077.4	+	7	1511	c.1295G>A	c.(1294-1296)cGt>cAt	p.R432H	ZNF546_ENST00000596894.1_Intron|ZNF546_ENST00000600094.1_Missense_Mutation_p.R406H	NM_178544.3	NP_848639.2	Q86UE3	ZN546_HUMAN	zinc finger protein 546	432					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(15)|lung(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)	34	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					GCTCGACATCGTAGAATTCAT	0.388																																						ENST00000347077.4																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(15)|lung(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)	34						c.(1294-1296)cGt>cAt		zinc finger protein 546							48	51	50					19																	40520472		2203	4299	6502	SO:0001583	missense	339327				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:40520472G>A	BC045649	CCDS12548.1	19q13.2	2013-01-08				ENSG00000187187		"Zinc fingers, C2H2-type", "-"	28671	protein-coding gene	gene with protein product				ZNF49		12477932	Standard	XM_005258853		Approved	MGC43537	uc002oms.2	Q86UE3		ENST00000347077.4:c.1295G>A	19.37:g.40520472G>A	ENSP00000339823:p.Arg432His					ZNF546_ENST00000600094.1_Missense_Mutation_p.R406H|ZNF546_ENST00000596894.1_Intron	p.R432H	NM_178544.3	NP_848639.2	Q86UE3	ZN546_HUMAN			7	1511	+	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)		432					A8K913	Missense_Mutation	SNP	ENST00000347077.4	37	c.1295G>A	CCDS12548.1	.	.	.	.	.	.	.	.	.	.	a	8.172	0.791803	0.16258	.	.	ENSG00000187187	ENST00000347077;ENST00000392042	T	0.07688	3.17	2.69	1.62	0.23740	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.06508	0.0167	L	0.31120	0.905	0.09310	N	1	B;B	0.09022	0.002;0.0	B;B	0.11329	0.006;0.0	T	0.36648	-0.9739	9	0.49607	T	0.09	.	6.2676	0.20936	0.7535:0.0:0.2465:0.0	.	406;432	B3KVL3;Q86UE3	.;ZN546_HUMAN	H	432;69	ENSP00000339823:R432H	ENSP00000339823:R432H	R	+	2	0	ZNF546	45212312	0.000000	0.05858	0.619000	0.29118	0.984000	0.73092	-0.310000	0.08135	0.007000	0.14760	-0.254000	0.11334	CGT		0.388	ZNF546-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462495.2	NM_178544		16	9	0	0	0	1	0	16	9					A	40520472	G	A	40520472	3	1	197	1	0	0	0	0	1	0	0	0	17975	1145	40	1	1313	1	ZNF546	19	40520472	Missense_Mutation	SNP	G	TCGA-HC-7078-01A-11D-2114-08	16977071	40520472	18608511	47	9175											
TMEM145	284339	broad.mit.edu	37	chr19	42820687	42820687	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcaatatgccaccgatggcaTtggcaacgagagtgtgaaga	13	8	12	8	2	1	3	1	1	0	2	1	5	1	3	2	2	2	2	2	2	4	2			TCGA-HC-7078-01A-11D-2114-08	TCGA-HC-7078-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31caea4-427d-4b58-8a66-08aa09f6d2ea	9f0ddd3a-9a58-4c8e-b5c0-756fac4c0c69	g.chr19:42820687T>C	ENST00000301204.3	+	9	742	c.701T>C	c.(700-702)aTt>aCt	p.I234T	TMEM145_ENST00000598766.1_Missense_Mutation_p.I258T	NM_173633.2	NP_775904.2	Q8NBT3	TM145_HUMAN	transmembrane protein 145	234					G-protein coupled receptor signaling pathway (GO:0007186)|response to pheromone (GO:0019236)	integral component of membrane (GO:0016021)				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|prostate(4)|skin(1)|urinary_tract(1)	27		Prostate(69;0.00682)				ACCGATGGCATTGGCAACGAG	0.552																																						ENST00000598766.1																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|prostate(4)|skin(1)|urinary_tract(1)	27						c.(772-774)aTt>aCt		transmembrane protein 145							152	134	140					19																	42820687		2203	4300	6503	SO:0001583	missense	284339					integral to membrane		g.chr19:42820687T>C	AK075286	CCDS12603.1	19q13.2	2008-02-05				ENSG00000167619			26912	protein-coding gene	gene with protein product							Standard	NM_173633		Approved	FLJ90805	uc002otk.1	Q8NBT3		ENST00000301204.3:c.701T>C	19.37:g.42820687T>C	ENSP00000301204:p.Ile234Thr					TMEM145_ENST00000301204.3_Missense_Mutation_p.I234T	p.I258T			Q8NBT3	TM145_HUMAN			9	773	+		Prostate(69;0.00682)	234						Missense_Mutation	SNP	ENST00000301204.3	37	c.773T>C	CCDS12603.1	.	.	.	.	.	.	.	.	.	.	T	14.33	2.504599	0.44558	.	.	ENSG00000167619	ENST00000301204	T	0.46063	0.88	3.93	3.93	0.45458	Rhodopsin-like GPCR transmembrane domain (1);	0.085889	0.47455	D	0.000240	T	0.32971	0.0847	L	0.46157	1.445	0.46113	D	0.99887	B	0.21606	0.058	B	0.24269	0.052	T	0.08229	-1.0732	10	0.11485	T	0.65	-5.0611	11.0586	0.47933	0.0:0.0:0.0:1.0	.	234	Q8NBT3	TM145_HUMAN	T	234	ENSP00000301204:I234T	ENSP00000301204:I234T	I	+	2	0	TMEM145	47512527	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	4.581000	0.60949	1.568000	0.49683	0.374000	0.22700	ATT		0.552	TMEM145-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463737.1	NM_173633		11	81	0	0	0	1	0	11	81					C	42820687	T	C	42820687	3	2	197	1	0	0	0	0	1	0	0	0	16056	1493	52	4	735	4	TMEM145	19	42820687	Missense_Mutation	SNP	T	TCGA-HC-7078-01A-11D-2114-08	2300215	42820687	16308296	48	9176											
NAPSA	9476	broad.mit.edu	37	chr19	50864267	50864267	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagtacatccatcgggggcCgaactccttccacagacaga	11	6	9	15	2	0	2	0	0	0	2	4	3	3	2	5	2	2	1	5	2	2	2	rs367832264		TCGA-HC-7078-01A-11D-2114-08	TCGA-HC-7078-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31caea4-427d-4b58-8a66-08aa09f6d2ea	9f0ddd3a-9a58-4c8e-b5c0-756fac4c0c69	g.chr19:50864267C>T	ENST00000253719.2	-	5	807	c.599G>A	c.(598-600)cGg>cAg	p.R200Q	NR1H2_ENST00000542413.1_Intron|NR1H2_ENST00000600978.1_Intron	NM_004851.1	NP_004842.1	O96009	NAPSA_HUMAN	napsin A aspartic peptidase	200					membrane protein proteolysis (GO:0033619)|proteolysis (GO:0006508)|surfactant homeostasis (GO:0043129)	alveolar lamellar body (GO:0097208)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	aspartic-type endopeptidase activity (GO:0004190)|endopeptidase activity (GO:0004175)|peptidase activity (GO:0008233)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|skin(3)	12		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00743)|GBM - Glioblastoma multiforme(134;0.0183)		CATCGGGGGCCGAACTCCTTC	0.537													C|||	1	0.000199681	0	0	5008	,	,		18065	0		0	False		,,,				2504	0.001					ENST00000253719.2																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|skin(3)	12						c.(598-600)cGg>cAg		napsin A aspartic peptidase		C	GLN/ARG	2,4404	4.2+/-10.8	0,2,2201	79	76	77		599	-5.1	0.9	19		77	0,8600		0,0,4300	no	missense	NAPSA	NM_004851.1	43	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	benign	200/421	50864267	2,13004	2203	4300	6503	SO:0001583	missense	9476				proteolysis	extracellular region	aspartic-type endopeptidase activity	g.chr19:50864267C>T	AF090386	CCDS12794.1	19q13.33	2011-08-25				ENSG00000131400			13395	protein-coding gene	gene with protein product	"kidney-derived aspartic protease-like protein"	605631					Standard	NM_004851		Approved	NAP1, NAPA, Kdap, KAP	uc002prx.3	O96009		ENST00000253719.2:c.599G>A	19.37:g.50864267C>T	ENSP00000253719:p.Arg200Gln					NR1H2_ENST00000600978.1_Intron|NR1H2_ENST00000542413.1_Intron	p.R200Q	NM_004851.1	NP_004842.1	O96009	NAPSA_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00743)|GBM - Glioblastoma multiforme(134;0.0183)	5	807	-		all_neural(266;0.057)	200					Q8WWD9	Missense_Mutation	SNP	ENST00000253719.2	37	c.599G>A	CCDS12794.1	.	.	.	.	.	.	.	.	.	.	C	8.475	0.858373	0.17178	4.54E-4	0.0	ENSG00000131400	ENST00000253719	T	0.57107	0.42	4.09	-5.08	0.02929	Peptidase aspartic (1);Peptidase aspartic, catalytic (1);	0.599151	0.18303	N	0.145372	T	0.17152	0.0412	N	0.02708	-0.52	0.19945	N	0.999947	B	0.24882	0.113	B	0.13407	0.009	T	0.32955	-0.9887	10	0.12103	T	0.63	.	6.5378	0.22363	0.0:0.1438:0.2672:0.589	.	200	O96009	NAPSA_HUMAN	Q	200	ENSP00000253719:R200Q	ENSP00000253719:R200Q	R	-	2	0	NAPSA	55556079	0.006000	0.16342	0.896000	0.35187	0.585000	0.36419	0.485000	0.22324	-0.694000	0.05113	0.491000	0.48974	CGG		0.537	NAPSA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464714.1	NM_004851		29	57	0	0	0	1	0	29	57					T	50864267	C	T	50864267	3	4	197	1	0	0	0	0	1	0	0	0	10166	652	23	2	683	2	NAPSA	19	50864267	Missense_Mutation	SNP	C	TCGA-HC-7078-01A-11D-2114-08	8043580	50864267	8264716	49	9177											
SIRPB1	10326	broad.mit.edu	37	chr20	1592215	1592215	+	Intron	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gattgtagattaattcccggCctggtccagctcctctgaac	8	12	9	12	1	1	2	0	1	1	1	4	3	4	2	4	2	2	2	4	2	3	4	rs41289057	byFrequency	TCGA-HC-7078-01A-11D-2114-08	TCGA-HC-7078-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31caea4-427d-4b58-8a66-08aa09f6d2ea	9f0ddd3a-9a58-4c8e-b5c0-756fac4c0c69	g.chr20:1592215C>G	ENST00000381605.4	-	1	141				RP4-576H24.4_ENST00000564763.1_Intron|SIRPB1_ENST00000381596.1_5'UTR|SIRPB1_ENST00000279477.7_Missense_Mutation_p.G74A|SIRPB1_ENST00000381603.3_Intron|SIRPB1_ENST00000568365.1_Missense_Mutation_p.G74A	NM_006065.3	NP_006056.2	O00241	SIRB1_HUMAN	signal-regulatory protein beta 1						cell surface receptor signaling pathway (GO:0007166)|innate immune response (GO:0045087)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				central_nervous_system(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	31						TAATTCCCGGCCTGGTCCAGC	0.522													c|||	3213	0.641573	0.7254	0.5029	5008	,	,		7138	0.7351		0.4781	False		,,,				2504	0.6984					ENST00000279477.7																			0				central_nervous_system(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	31						c.(220-222)gGc>gCc		signal-regulatory protein beta 1							66	79	75					20																	1592215		452	1342	1794	SO:0001627	intron_variant	10326				cell junction assembly|cell surface receptor linked signaling pathway	integral to plasma membrane	protein binding	g.chr20:1592215C>G	Y10376	CCDS13019.1, CCDS42850.1, CCDS46571.1	20p13	2013-01-11			ENSG00000101307	ENSG00000101307		"Signal-regulatory proteins", "CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C1-set domain containing"	15928	protein-coding gene	gene with protein product		603889				9062191, 16339511	Standard	NM_001083910		Approved	SIRP-BETA-1, CD172b	uc010gai.3	O00241	OTTHUMG00000031676	ENST00000381605.4:c.76+8299G>C	20.37:g.1592215C>G						SIRPB1_ENST00000568365.1_Missense_Mutation_p.G74A|SIRPB1_ENST00000381605.4_Intron|RP4-576H24.4_ENST00000564763.1_Intron|SIRPB1_ENST00000381596.1_5'UTR|SIRPB1_ENST00000381603.3_Intron	p.G74A	NM_001135844.2	NP_001129316.1	O00241	SIRB1_HUMAN			2	285	-			74			Ig-like V-type.		A6NLM2|B2R8V0|Q5TFQ9|Q5TFR0|Q8TB12|Q9H1U5|Q9Y4V0	Missense_Mutation	SNP	ENST00000381605.4	37	c.221G>C	CCDS13019.1	821	0.3759157509157509	204	0.4146341463414634	117	0.32320441988950277	293	0.5122377622377622	207	0.27308707124010556	.	5.490	0.275498	0.10403	.	.	ENSG00000101307	ENST00000279477;ENST00000381596	T	0.66995	-0.24	2.75	-5.49	0.02584	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.00012	0.0000	L	0.52905	1.665	0.80722	P	0.0	B	0.09022	0.002	B	0.13407	0.009	T	0.35151	-0.9800	8	0.36615	T	0.2	.	9.7994	0.40755	0.0:0.6565:0.0:0.3435	rs41289057	74	Q5TFQ8	SIRBL_HUMAN	A	74	ENSP00000279477:G74A	ENSP00000279477:G74A	G	-	2	0	SIRPB1	1540215	0.000000	0.05858	0.000000	0.03702	0.017000	0.09413	-1.679000	0.01940	-1.538000	0.01734	-0.474000	0.04947	GGC		0.522	SIRPB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000077555.2	NM_006065		6	31	0	0	0	1	0	6	31					G	1592215	C	G	1592215	1	3	197	0	1	0	0	0	0	0	0	0	14333	739	26	5		5	SIRPB1	20	1592215	Intron	SNP	C	TCGA-HC-7078-01A-11D-2114-08		1592215	61433305	50	9178											
TMEM189-UBE2V1	7335	broad.mit.edu	37	chr20	48699408	48699408	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggacaactttgatgctatatGaattctgccattttgctagc	10	15	8	8	0	1	2	0	2	1	0	1	3	1	3	1	1	5	2	1	1	5	7			TCGA-HC-7078-01A-11D-2114-08	TCGA-HC-7078-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31caea4-427d-4b58-8a66-08aa09f6d2ea	9f0ddd3a-9a58-4c8e-b5c0-756fac4c0c69	g.chr20:48699408G>A	ENST00000371674.3	-	4	385	c.341C>T	c.(340-342)tCa>tTa	p.S114L	UBE2V1_ENST00000371677.3_Missense_Mutation_p.S137L|UBE2V1_ENST00000396059.3_5'UTR|UBE2V1_ENST00000415862.2_Missense_Mutation_p.S70L|UBE2V1_ENST00000420027.2_Missense_Mutation_p.S70L|TMEM189_ENST00000557021.1_Missense_Mutation_p.S337L|UBE2V1_ENST00000340309.3_Missense_Mutation_p.S137L|TMEM189-UBE2V1_ENST00000341698.2_Missense_Mutation_p.S337L|UBE2V1_ENST00000371657.5_Missense_Mutation_p.S72L	NM_001032288.2|NM_001257395.1	NP_001027459.1|NP_001244324.1	Q13404	UB2V1_HUMAN	ubiquitin-conjugating enzyme E2 variant 1	114					cell differentiation (GO:0030154)|error-free postreplication DNA repair (GO:0042275)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription, DNA-templated (GO:0045893)|protein K63-linked ubiquitination (GO:0070534)|protein polyubiquitination (GO:0000209)|regulation of DNA repair (GO:0006282)|regulation of transcription, DNA-templated (GO:0006355)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|protein complex (GO:0043234)|UBC13-UEV1A complex (GO:0035370)|ubiquitin conjugating enzyme complex (GO:0031371)|ubiquitin ligase complex (GO:0000151)	acid-amino acid ligase activity (GO:0016881)|ubiquitin-protein transferase activity (GO:0004842)			endometrium(2)|large_intestine(3)|lung(4)	9			BRCA - Breast invasive adenocarcinoma(9;4.74e-06)			GATGCTATATGAATTCTGCCA	0.423																																						ENST00000557021.1																			0				breast(1)|endometrium(2)|large_intestine(3)|lung(2)	8						c.(1009-1011)tCa>tTa		transmembrane protein 189							68	66	67					20																	48699408		2203	4298	6501	SO:0001583	missense	387521							g.chr20:48699408G>A	U39360	CCDS13426.1, CCDS13427.1, CCDS33483.1, CCDS58775.1, CCDS74740.1	20q13.2	2007-07-18			ENSG00000244687	ENSG00000244687		"Ubiquitin-conjugating enzymes E2"	12494	protein-coding gene	gene with protein product		602995		UBE2V		9418904, 9305758	Standard	NM_001032288		Approved	UEV-1, CROC-1, UEV1A, CROC1		Q13404	OTTHUMG00000152626	ENST00000371674.3:c.341C>T	20.37:g.48699408G>A	ENSP00000360739:p.Ser114Leu					UBE2V1_ENST00000415862.2_Missense_Mutation_p.S70L|UBE2V1_ENST00000340309.3_Missense_Mutation_p.S137L|UBE2V1_ENST00000371674.3_Missense_Mutation_p.S114L|UBE2V1_ENST00000371677.3_Missense_Mutation_p.S137L|UBE2V1_ENST00000420027.2_Missense_Mutation_p.S70L|UBE2V1_ENST00000371657.5_Missense_Mutation_p.S72L|TMEM189-UBE2V1_ENST00000341698.2_Missense_Mutation_p.S337L|UBE2V1_ENST00000396059.3_5'UTR	p.S337L	NM_199203.2	NP_954673.1			BRCA - Breast invasive adenocarcinoma(9;3.02e-07)		8	1170	-								E1P629|Q13403|Q13532|Q5TGE0|Q5TGE3|Q96H34|Q9GZT0|Q9GZW1|Q9H4J3|Q9H4J4|Q9UKL1|Q9UM48|Q9UM49|Q9UM50	Missense_Mutation	SNP	ENST00000371674.3	37	c.1010C>T	CCDS33483.1	.	.	.	.	.	.	.	.	.	.	G	28.9	4.956830	0.92726	.	.	ENSG00000124208;ENSG00000244687;ENSG00000244687;ENSG00000244687;ENSG00000244687;ENSG00000244687;ENSG00000244687;ENSG00000244687;ENSG00000240849	ENST00000341698;ENST00000371657;ENST00000371674;ENST00000340309;ENST00000415862;ENST00000371677;ENST00000420027;ENST00000354374;ENST00000557021	T;T;T;T;T;T;T;T	0.13778	2.56;2.56;2.56;2.56;2.56;2.56;2.56;2.56	5.35	5.35	0.76521	Ubiquitin-conjugating enzyme, E2 (2);Ubiquitin-conjugating enzyme/RWD-like (2);	0.000000	0.44097	U	0.000487	T	0.30885	0.0779	L	0.61387	1.9	0.58432	D	0.999995	D;B;B;P	0.55800	0.973;0.348;0.348;0.628	P;P;P;P	0.54629	0.757;0.523;0.523;0.562	T	0.01762	-1.1279	10	0.72032	D	0.01	-0.3462	19.0759	0.93161	0.0:0.0:1.0:0.0	.	337;137;70;114	G3V2F7;Q13404-7;Q13404-6;Q13404	.;.;.;UB2V1_HUMAN	L	337;72;114;137;70;137;70;70;337	ENSP00000344166:S337L;ENSP00000360720:S72L;ENSP00000360739:S114L;ENSP00000340305:S137L;ENSP00000407770:S70L;ENSP00000360742:S137L;ENSP00000395264:S70L;ENSP00000450635:S337L	ENSP00000344166:S337L	S	-	2	0	TMEM189-UBE2V1;UBE2V1;TMEM189	48132815	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	9.476000	0.97823	2.506000	0.84524	0.650000	0.86243	TCA		0.423	UBE2V1-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000080530.1	NM_021988		26	35	0	0	0	1	0	26	35					A	48699408	G	A	48699408	3	1	197	1	0	0	0	0	1	0	0	0	16109	1294	45	3	106	3	TMEM189-UBE2V1	20	48699408	Missense_Mutation	SNP	G	TCGA-HC-7078-01A-11D-2114-08	47107193	48699408	14326112	51	9179											
CLTCL1	8218	broad.mit.edu	37	chr22	19209025	19209025	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	attctctctcaggaagcactCggggctgttgttgctgtcga	6	13	12	10	2	2	0	1	0	2	0	6	2	2	1	0	3	2	5	0	3	1	3			TCGA-HC-7078-01A-11D-2114-08	TCGA-HC-7078-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31caea4-427d-4b58-8a66-08aa09f6d2ea	9f0ddd3a-9a58-4c8e-b5c0-756fac4c0c69	g.chr22:19209025C>T	ENST00000263200.10	-	17	2743	c.2671G>A	c.(2671-2673)Gag>Aag	p.E891K	CLTCL1_ENST00000353891.5_Missense_Mutation_p.E891K|CLTCL1_ENST00000427926.1_Missense_Mutation_p.E891K	NM_007098.3	NP_009029.3	P53675	CLH2_HUMAN	clathrin, heavy chain-like 1	891	Heavy chain arm.|Proximal segment.				anatomical structure morphogenesis (GO:0009653)|intracellular protein transport (GO:0006886)|mitotic nuclear division (GO:0007067)|positive regulation of glucose import (GO:0046326)|receptor-mediated endocytosis (GO:0006898)|signal transduction (GO:0007165)	clathrin coat of coated pit (GO:0030132)|clathrin coat of trans-Golgi network vesicle (GO:0030130)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|coated vesicle (GO:0030135)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|spindle (GO:0005819)|trans-Golgi network (GO:0005802)	signal transducer activity (GO:0004871)|structural molecule activity (GO:0005198)			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	Colorectal(54;0.0993)					AGGAAGCACTCGGGGCTGTTG	0.577			T	?	ALCL																																	ENST00000263200.10				Dom	yes		22	22q11.21	8218	T	"clathrin, heavy polypeptide-like 1"			L	?		ALCL		0				breast(2)|central_nervous_system(3)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						c.(2671-2673)Gag>Aag		clathrin, heavy chain-like 1							35	36	36					22																	19209025		2097	4255	6352	SO:0001583	missense	8218				anatomical structure morphogenesis|intracellular protein transport|mitosis|positive regulation of glucose import|receptor-mediated endocytosis	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|spindle|trans-Golgi network	protein binding|signal transducer activity|structural molecule activity	g.chr22:19209025C>T		CCDS46662.1, CCDS54497.1, CCDS46662.2, CCDS54497.2	22q11.2	2008-06-10	2006-09-29		ENSG00000070371	ENSG00000070371			2093	protein-coding gene	gene with protein product		601273	"clathrin, heavy polypeptide-like 1"	CLTCL		8844170, 15133132	Standard	NM_007098		Approved	CLTD, CLH22, CHC22	uc021wle.1	P53675	OTTHUMG00000150109	ENST00000263200.10:c.2671G>A	22.37:g.19209025C>T	ENSP00000445677:p.Glu891Lys					CLTCL1_ENST00000353891.5_Missense_Mutation_p.E891K|CLTCL1_ENST00000427926.1_Missense_Mutation_p.E891K	p.E891K	NM_007098.3	NP_009029.3	P53675	CLH2_HUMAN			17	2743	-	Colorectal(54;0.0993)		891			Heavy chain arm.|Proximal segment.		B7Z7U5|Q14017|Q15808|Q15809	Missense_Mutation	SNP	ENST00000263200.10	37	c.2671G>A	CCDS46662.1	.	.	.	.	.	.	.	.	.	.	C	18.67	3.673145	0.67928	.	.	ENSG00000070371	ENST00000353891;ENST00000263200;ENST00000427926	T;T;T	0.29655	1.56;1.56;1.56	3.63	3.63	0.41609	Tetratricopeptide-like helical (1);Armadillo-type fold (2);	0.000000	0.64402	D	0.000001	T	0.60907	0.2305	M	0.88979	2.995	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.69950	-0.5006	10	0.51188	T	0.08	-14.7671	15.456	0.75314	0.0:1.0:0.0:0.0	.	891;891	P53675-2;P53675	.;CLH2_HUMAN	K	891	ENSP00000439662:E891K;ENSP00000445677:E891K;ENSP00000441158:E891K	ENSP00000445677:E891K	E	-	1	0	CLTCL1	17589025	1.000000	0.71417	0.165000	0.22776	0.186000	0.23388	5.233000	0.65337	1.880000	0.54463	0.462000	0.41574	GAG		0.577	CLTCL1-001	KNOWN	non_canonical_genome_sequence_error|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316397.5	NM_007098		4	15	0	0	0	1	0	4	15					T	19209025	C	T	19209025	3	4	197	1	0	0	0	0	1	0	0	0	3567	893	31	2	2315	2	CLTCL1	22	19209025	Missense_Mutation	SNP	C	TCGA-HC-7078-01A-11D-2114-08		19209025	32095541	52	9180											
ZNF280B	140883	broad.mit.edu	37	chr22	22842418	22842418	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tttgaaaattttgagacaaaAgggacaaagcaaattctttg	17	12	8	4	0	1	2	0	2	1	1	1	4	1	3	0	1	1	1	0	1	6	5			TCGA-HC-7078-01A-11D-2114-08	TCGA-HC-7078-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31caea4-427d-4b58-8a66-08aa09f6d2ea	9f0ddd3a-9a58-4c8e-b5c0-756fac4c0c69	g.chr22:22842418A>G	ENST00000406426.1	-	4	2048	c.1306T>C	c.(1306-1308)Ttt>Ctt	p.F436L	ZNF280B_ENST00000360412.2_Missense_Mutation_p.F436L			Q86YH2	Z280B_HUMAN	zinc finger protein 280B	436					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|ovary(2)	22	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)		READ - Rectum adenocarcinoma(21;0.145)		TTGAGACAAAAGGGACAAAGC	0.428																																						ENST00000360412.2																			0				autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|ovary(2)	22						c.(1306-1308)Ttt>Ctt		zinc finger protein 280B							110	105	107					22																	22842418		2203	4300	6503	SO:0001583	missense	140883				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr22:22842418A>G	AK097608	CCDS13799.1	22q11.2	2007-09-20	2007-09-20	2007-09-20	ENSG00000198477	ENSG00000275004			23022	protein-coding gene	gene with protein product			"zinc finger protein 279", "suppressor of hairy wing homolog 2 (Drosophila)"	ZNF279, SUHW2		9074928	Standard	NM_080764		Approved	5'OY11.1, ZNF632	uc002zwc.1	Q86YH2	OTTHUMG00000151066	ENST00000406426.1:c.1306T>C	22.37:g.22842418A>G	ENSP00000385998:p.Phe436Leu					ZNF280B_ENST00000406426.1_Missense_Mutation_p.F436L	p.F436L	NM_080764.2	NP_542942.1	Q86YH2	Z280B_HUMAN		READ - Rectum adenocarcinoma(21;0.145)	4	2081	-	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)	436						Missense_Mutation	SNP	ENST00000406426.1	37	c.1306T>C	CCDS13799.1	.	.	.	.	.	.	.	.	.	.	A	19.06	3.754591	0.69648	.	.	ENSG00000198477	ENST00000406426;ENST00000360412	T;T	0.58940	0.3;0.3	4.85	4.85	0.62838	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);	.	.	.	.	T	0.48333	0.1494	L	0.35487	1.065	0.42761	D	0.993803	P	0.35612	0.512	B	0.36989	0.238	T	0.53330	-0.8454	9	0.52906	T	0.07	-16.5218	12.726	0.57170	1.0:0.0:0.0:0.0	.	436	Q86YH2	Z280B_HUMAN	L	436	ENSP00000385998:F436L;ENSP00000353586:F436L	ENSP00000353586:F436L	F	-	1	0	ZNF280B	21172418	1.000000	0.71417	0.920000	0.36463	0.980000	0.70556	8.122000	0.89584	2.172000	0.68678	0.533000	0.62120	TTT		0.428	ZNF280B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321170.2	NM_080764		3	109	0	0	0	1	0	3	109					G	22842418	A	G	22842418	3	3	197	1	0	0	0	0	1	0	0	0	17812	72	3	4	329	4	ZNF280B	22	22842418	Missense_Mutation	SNP	A	TCGA-HC-7078-01A-11D-2114-08	3633393	22842418	28462148	53	9181											
KCNJ4	3761	broad.mit.edu	37	chr22	38822859	38822859	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgggagggaagcctgcatgcGctccaggtccaggtggctgc	6	6	17	12	2	0	0	0	0	0	0	2	2	2	2	3	5	4	3	3	5	1	0			TCGA-HC-7078-01A-11D-2114-08	TCGA-HC-7078-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31caea4-427d-4b58-8a66-08aa09f6d2ea	9f0ddd3a-9a58-4c8e-b5c0-756fac4c0c69	g.chr22:38822859G>A	ENST00000303592.3	-	2	1537	c.1279C>T	c.(1279-1281)Cgc>Tgc	p.R427C	RP3-434P1.6_ENST00000433230.1_RNA	NM_004981.1|NM_152868.2	NP_004972.1|NP_690607.1	P48050	KCNJ4_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 4	427					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	basolateral plasma membrane (GO:0016323)|cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|voltage-gated potassium channel complex (GO:0008076)	inward rectifier potassium channel activity (GO:0005242)|PDZ domain binding (GO:0030165)			endometrium(7)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	23	Melanoma(58;0.0286)					GCCTGCATGCGCTCCAGGTCC	0.692																																						ENST00000303592.3																			0				endometrium(7)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	23						c.(1279-1281)Cgc>Tgc		potassium inwardly-rectifying channel, subfamily J, member 4							66	74	71					22																	38822859		2201	4300	6501	SO:0001583	missense	3761				synaptic transmission	basolateral plasma membrane|voltage-gated potassium channel complex	inward rectifier potassium channel activity|PDZ domain binding	g.chr22:38822859G>A	U07364	CCDS13971.1	22q13.1	2011-07-05			ENSG00000168135	ENSG00000168135		"Potassium channels", "Voltage-gated ion channels / Potassium channels, Inwardly rectifying"	6265	protein-coding gene	gene with protein product		600504				8016146, 16382105	Standard	NM_152868		Approved	Kir2.3, HIR, HRK1, hIRK2, IRK3	uc003avs.1	P48050	OTTHUMG00000151131	ENST00000303592.3:c.1279C>T	22.37:g.38822859G>A	ENSP00000306497:p.Arg427Cys					RP3-434P1.6_ENST00000433230.1_RNA	p.R427C	NM_004981.1|NM_152868.2	NP_004972.1|NP_690607.1	P48050	IRK4_HUMAN			2	1537	-	Melanoma(58;0.0286)		427					Q14D44	Missense_Mutation	SNP	ENST00000303592.3	37	c.1279C>T	CCDS13971.1	.	.	.	.	.	.	.	.	.	.	G	17.56	3.419745	0.62622	.	.	ENSG00000168135	ENST00000303592	D	0.90504	-2.68	4.48	3.39	0.38822	.	0.947029	0.08717	U	0.904125	D	0.90762	0.7100	L	0.32530	0.975	0.51767	D	0.999934	D	0.89917	1.0	P	0.54706	0.759	D	0.88171	0.2864	10	0.56958	D	0.05	.	14.3955	0.67007	0.0:0.0:0.8524:0.1476	.	427	P48050	IRK4_HUMAN	C	427	ENSP00000306497:R427C	ENSP00000306497:R427C	R	-	1	0	KCNJ4	37152805	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.189000	0.58358	2.212000	0.71576	0.555000	0.69702	CGC		0.692	KCNJ4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321447.1	NM_004981		65	129	0	0	0	1	0	65	129					A	38822859	G	A	38822859	3	1	197	1	0	0	0	0	1	0	0	0	8053	1087	38	1	62	1	KCNJ4	22	38822859	Missense_Mutation	SNP	G	TCGA-HC-7078-01A-11D-2114-08	15980441	38822859	12481707	54	9182											
SPANXD	64648	broad.mit.edu	37	chrX	140785743	140785743	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctggagatgttcttttaaagTtcctcctgtagcgaaccact	9	14	8	10	1	1	1	0	0	1	1	3	3	3	1	3	1	2	3	3	1	4	5			TCGA-HC-7078-01A-11D-2114-08	TCGA-HC-7078-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31caea4-427d-4b58-8a66-08aa09f6d2ea	9f0ddd3a-9a58-4c8e-b5c0-756fac4c0c69	g.chrX:140785743T>A	ENST00000370515.3	-	2	506	c.173A>T	c.(172-174)aAc>aTc	p.N58I		NM_032417.2|NM_145665.1	NP_115793.1|NP_663698.1	Q9BXN6	SPNXD_HUMAN	SPANX family, member D	58						cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	9	Acute lymphoblastic leukemia(192;7.65e-05)					TCTTTTAAAGTTCCTCCTGTA	0.483																																						ENST00000370515.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	9						c.(172-174)aAc>aTc		SPANX family, member D							237	184	202					X																	140785743		2202	4287	6489	SO:0001583	missense	64648							g.chrX:140785743T>A	AJ457791	CCDS14675.1	Xq27.2	2014-06-19			ENSG00000196406	ENSG00000196406			14332	protein-coding gene	gene with protein product	"cancer/testis antigen family 11, member 4"	300670, 300671	"SPANX family, member E"	SPANXE			Standard	NM_032417		Approved	CT11.4		Q9BXN6	OTTHUMG00000022563	ENST00000370515.3:c.173A>T	X.37:g.140785743T>A	ENSP00000359546:p.Asn58Ile						p.N58I	NM_032417.2|NM_145665.1	NP_115793.1|NP_663698.1					2	506	-	Acute lymphoblastic leukemia(192;7.65e-05)							Q5JWI1	Missense_Mutation	SNP	ENST00000370515.3	37	c.173A>T	CCDS14675.1	.	.	.	.	.	.	.	.	.	.	N	10.09	1.253769	0.22965	.	.	ENSG00000196406	ENST00000370515	T	0.06933	3.24	.	.	.	.	.	.	.	.	T	0.11879	0.0289	.	.	.	0.09310	N	1	P	0.48998	0.918	P	0.49140	0.601	T	0.16988	-1.0384	6	0.72032	D	0.01	.	.	.	.	.	58	Q9BXN6	SPNXD_HUMAN	I	58	ENSP00000359546:N58I	ENSP00000359546:N58I	N	-	2	0	SPANXD	140613409	0.006000	0.16342	0.005000	0.12908	0.006000	0.05464	0.065000	0.14466	0.358000	0.24211	0.058000	0.15282	AAC		0.483	SPANXD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058598.1			21	203	0	0	0	1	0	21	203					A	140785743	T	A	140785743	3	1	197	1	0	0	0	0	1	0	0	0	14988	1725	60	5	124	5	SPANXD	23	140785743	Missense_Mutation	SNP	T	TCGA-HC-7078-01A-11D-2114-08		140785743	14484817	55	9183											
RBM15	64783	broad.mit.edu	37	chr1	110882203	110882203	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtgaaggccaaacgctcccGtggtggtgaggactcgactt	9	8	14	10	3	0	2	0	2	0	0	2	4	1	3	2	4	1	1	2	4	2	1			TCGA-HC-7079-01A-11D-1961-08	TCGA-HC-7079-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f1ca00a-84ba-4b26-a1a5-4d83c363ac69	c359bee4-8d3a-4855-a6b6-1e09aefd2b2e	g.chr1:110882203G>A	ENST00000369784.3	+	1	1076	c.176G>A	c.(175-177)cGt>cAt	p.R59H	RBM15_ENST00000602849.1_Missense_Mutation_p.R59H|RBM15_ENST00000487146.2_Missense_Mutation_p.R59H|RP5-1074L1.1_ENST00000449169.1_RNA	NM_022768.4	NP_073605.4	Q96T37	RBM15_HUMAN	RNA binding motif protein 15	59					negative regulation of myeloid cell differentiation (GO:0045638)|patterning of blood vessels (GO:0001569)|placenta blood vessel development (GO:0060674)|positive regulation of transcription of Notch receptor target (GO:0007221)|spleen development (GO:0048536)|ventricular septum morphogenesis (GO:0060412)|viral process (GO:0016032)	membrane (GO:0016020)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			ovary(3)	3		all_cancers(81;2.89e-06)|all_epithelial(167;2.96e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)|Breast(1374;0.0634)		BRCA - Breast invasive adenocarcinoma(282;0.000224)|Epithelial(280;0.000476)|Kidney(133;0.000539)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|all cancers(265;0.00144)|Lung(183;0.0238)|Colorectal(144;0.103)|LUSC - Lung squamous cell carcinoma(189;0.135)		AAACGCTCCCGTGGTGGTGAG	0.647			T	MKL1	acute megakaryocytic leukemia																																	ENST00000369784.3				Dom	yes		1	1p13	64783	T	RNA binding motif protein 15			L	MKL1		acute megakaryocytic leukemia		0				ovary(3)	3						c.(175-177)cGt>cAt		RNA binding motif protein 15							38	40	39					1																	110882203		2203	4300	6503	SO:0001583	missense	64783				interspecies interaction between organisms	nucleus	nucleotide binding|protein binding|RNA binding	g.chr1:110882203G>A	AF368063	CCDS822.1, CCDS59198.1	1p13	2013-02-12			ENSG00000162775	ENSG00000162775		"RNA binding motif (RRM) containing"	14959	protein-coding gene	gene with protein product	"one twenty-two"	606077				11431691, 11344311	Standard	NM_001201545		Approved	OTT, OTT1	uc001dzl.1	Q96T37	OTTHUMG00000011284	ENST00000369784.3:c.176G>A	1.37:g.110882203G>A	ENSP00000358799:p.Arg59His					RBM15_ENST00000487146.2_Missense_Mutation_p.R59H|RBM15_ENST00000602849.1_Missense_Mutation_p.R59H	p.R59H	NM_022768.4	NP_073605.4	Q96T37	RBM15_HUMAN		BRCA - Breast invasive adenocarcinoma(282;0.000224)|Epithelial(280;0.000476)|Kidney(133;0.000539)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|all cancers(265;0.00144)|Lung(183;0.0238)|Colorectal(144;0.103)|LUSC - Lung squamous cell carcinoma(189;0.135)	1	1076	+		all_cancers(81;2.89e-06)|all_epithelial(167;2.96e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)|Breast(1374;0.0634)	59					A1A693|Q3ZB86|Q4V760|Q5D058|Q5T613|Q86VW9|Q96PE4|Q96SC5|Q96SC6|Q96SC9|Q96SD0|Q96T38|Q9BRA5|Q9H6R8|Q9H9Y0	Missense_Mutation	SNP	ENST00000369784.3	37	c.176G>A	CCDS822.1	.	.	.	.	.	.	.	.	.	.	G	26.9	4.779677	0.90195	.	.	ENSG00000162775	ENST00000369784	T	0.29655	1.56	5.3	5.3	0.74995	.	0.000000	0.46442	D	0.000292	T	0.39517	0.1081	L	0.32530	0.975	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.991	T	0.29274	-1.0017	10	0.87932	D	0	-9.0784	18.7341	0.91748	0.0:0.0:1.0:0.0	.	59;59	Q96T37-3;Q96T37	.;RBM15_HUMAN	H	59	ENSP00000358799:R59H	ENSP00000358799:R59H	R	+	2	0	RBM15	110683726	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.599000	0.90856	2.759000	0.94783	0.650000	0.86243	CGT		0.647	RBM15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000031114.2	NM_022768		4	59	0	0	0	0.009096	0	4	59					A	110882203	G	A	110882203	3	1	198	1	0	0	0	0	1	0	0	0	13116	1145	40	1	178	1	RBM15	1	110882203	Missense_Mutation	SNP	G	TCGA-HC-7079-01A-11D-1961-08		110882203	138368418	1	9184											
LY9	4063	broad.mit.edu	37	chr1	160769618	160769618	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gggttccgtgactctcccccTaaacatctcagtagacacag	10	9	8	14	1	2	2	1	1	2	1	5	2	3	2	3	1	1	2	3	1	3	3			TCGA-HC-7079-01A-11D-1961-08	TCGA-HC-7079-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f1ca00a-84ba-4b26-a1a5-4d83c363ac69	c359bee4-8d3a-4855-a6b6-1e09aefd2b2e	g.chr1:160769618T>C	ENST00000263285.6	+	2	230	c.200T>C	c.(199-201)cTa>cCa	p.L67P	LY9_ENST00000368040.1_5'UTR|LY9_ENST00000471816.1_3'UTR|LY9_ENST00000368041.2_Missense_Mutation_p.L27P|LY9_ENST00000392203.4_Missense_Mutation_p.L67P|LY9_ENST00000368039.2_Missense_Mutation_p.L67P|LY9_ENST00000368037.5_Missense_Mutation_p.L67P|LY9_ENST00000341032.4_Missense_Mutation_p.L67P			Q9HBG7	LY9_HUMAN	lymphocyte antigen 9	67	Ig-like V-type 1.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			ACTCTCCCCCTAAACATCTCA	0.498																																						ENST00000263285.5																			0				autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36						c.(199-201)cTa>cCa		lymphocyte antigen 9							83	80	81					1																	160769618		2203	4300	6503	SO:0001583	missense	4063				cell adhesion|immunoglobulin mediated immune response	integral to membrane		g.chr1:160769618T>C	L42621	CCDS30916.1, CCDS30917.1, CCDS65695.1, CCDS65696.1	1q23.3	2013-01-11			ENSG00000122224	ENSG00000122224		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6730	protein-coding gene	gene with protein product		600684				8537117, 7797269	Standard	NM_001261457		Approved	CD229, mLY9, SLAMF3, hly9	uc001fwu.4	Q9HBG7	OTTHUMG00000024007	ENST00000263285.6:c.200T>C	1.37:g.160769618T>C	ENSP00000263285:p.Leu67Pro					LY9_ENST00000368039.2_Missense_Mutation_p.L67P|LY9_ENST00000341032.4_Missense_Mutation_p.L67P|LY9_ENST00000368041.2_Missense_Mutation_p.L27P|LY9_ENST00000368040.1_5'UTR|LY9_ENST00000471816.1_3'UTR	p.L67P	NM_001261456.1|NM_002348.3	NP_001248385.1|NP_002339.2	Q9HBG7	LY9_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00737)		2	230	+	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)		67			Ig-like V-type 1.		A8K7N3|Q14775|Q5VYI3|Q6P2J4|Q9H4N5|Q9NQ24	Missense_Mutation	SNP	ENST00000263285.6	37	c.200T>C	CCDS30916.1	.	.	.	.	.	.	.	.	.	.	T	14.96	2.691598	0.48097	.	.	ENSG00000122224	ENST00000368041;ENST00000341032;ENST00000263285;ENST00000542780;ENST00000368039;ENST00000392203;ENST00000368037	T;T;T;T	0.65732	1.8;1.93;1.93;-0.17	4.04	2.8	0.32819	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	0.567247	0.15645	N	0.251692	T	0.69278	0.3093	M	0.85859	2.78	0.19300	N	0.99997	D;D;D;D;D;D	0.89917	1.0;1.0;0.998;1.0;0.999;1.0	D;D;D;D;D;D	0.91635	0.999;0.996;0.995;0.998;0.997;0.999	T	0.57802	-0.7748	10	0.87932	D	0	-9.69	6.2039	0.20591	0.2242:0.0:0.0:0.7758	.	67;27;67;67;67;67	B4E0J5;Q5VYH9;E7EME5;Q9HBG7-2;Q9HBG7;Q6P2J4	.;.;.;.;LY9_HUMAN;.	P	67;67;67;67;67;27;27	ENSP00000357020:L67P;ENSP00000342921:L67P;ENSP00000263285:L67P;ENSP00000357018:L67P	ENSP00000263285:L67P	L	+	2	0	LY9	159036242	0.010000	0.17322	0.021000	0.16686	0.141000	0.21300	1.869000	0.39519	1.805000	0.52779	0.460000	0.39030	CTA		0.498	LY9-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060457.3	NM_002348		3	76	0	0	0	0.009096	0	3	76					C	160769618	T	C	160769618	3	2	198	1	0	0	0	0	1	0	0	0	9101	1522	53	4	206	4	LY9	1	160769618	Missense_Mutation	SNP	T	TCGA-HC-7079-01A-11D-1961-08	49887415	160769618	88481003	2	9185											
ZNF208	7757	broad.mit.edu	37	chr19	22156811	22156811	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctttgccacattctttacatTtgtagggcttctctccagca	7	16	6	12	0	2	0	0	0	2	0	4	0	3	0	2	1	3	3	2	1	2	7			TCGA-HC-7079-01A-11D-1961-08	TCGA-HC-7079-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f1ca00a-84ba-4b26-a1a5-4d83c363ac69	c359bee4-8d3a-4855-a6b6-1e09aefd2b2e	g.chr19:22156811T>C	ENST00000397126.4	-	4	1173	c.1025A>G	c.(1024-1026)aAa>aGa	p.K342R	ZNF208_ENST00000601773.1_Intron|ZNF208_ENST00000599916.1_Intron	NM_007153.3	NP_009084.2	O43345	ZN208_HUMAN	zinc finger protein 208	342					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				TTCTTTACATTTGTAGGGCTT	0.403																																						ENST00000397126.4																			0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113						c.(1024-1026)aAa>aGa		zinc finger protein 208							46	48	47					19																	22156811		2038	4199	6237	SO:0001583	missense	7757							g.chr19:22156811T>C	BC038199	CCDS54240.1	19p12	2013-01-08				ENSG00000160321		"Zinc fingers, C2H2-type", "-"	12999	protein-coding gene	gene with protein product	"zinc finger protein 95"	603977				9724325	Standard	NM_007153		Approved	PMIDP, ZNF95	uc021urr.1	O43345		ENST00000397126.4:c.1025A>G	19.37:g.22156811T>C	ENSP00000380315:p.Lys342Arg					ZNF208_ENST00000599916.1_Intron|ZNF208_ENST00000601773.1_Intron	p.K342R	NM_007153.3	NP_009084.2					4	1173	-		all_lung(12;0.0961)|Lung NSC(12;0.103)							Missense_Mutation	SNP	ENST00000397126.4	37	c.1025A>G	CCDS54240.1	.	.	.	.	.	.	.	.	.	.	T	12.77	2.038839	0.35989	.	.	ENSG00000160321	ENST00000397126;ENST00000428290	T	0.03831	3.79	2.65	-2.04	0.07343	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.03178	0.0093	.	.	.	0.09310	N	1	B	0.14012	0.009	B	0.10450	0.005	T	0.44375	-0.9332	8	0.51188	T	0.08	.	0.5226	0.00614	0.3435:0.1168:0.1757:0.364	.	342	O43345	ZN208_HUMAN	R	342	ENSP00000380315:K342R	ENSP00000380315:K342R	K	-	2	0	ZNF208	21948651	0.000000	0.05858	0.000000	0.03702	0.014000	0.08584	-1.739000	0.01840	-1.399000	0.02063	0.254000	0.18369	AAA		0.403	ZNF208-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464302.1	NM_007153		4	30	0	0	0	0.000602	0	4	30					C	22156811	T	C	22156811	3	2	198	1	0	0	0	0	1	0	0	0	17763	1841	64	4	2821	4	ZNF208	19	22156811	Missense_Mutation	SNP	T	TCGA-HC-7079-01A-11D-1961-08		22156811	36972172	3	9186											
SEMG1	6406	broad.mit.edu	37	chr20	43836069	43836069	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccaatttccacacggacaaaAgggccagcactattctggac	13	7	8	13	1	1	0	0	0	1	0	2	2	2	2	3	3	1	1	3	3	4	3			TCGA-HC-7079-01A-11D-1961-08	TCGA-HC-7079-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f1ca00a-84ba-4b26-a1a5-4d83c363ac69	c359bee4-8d3a-4855-a6b6-1e09aefd2b2e	g.chr20:43836069A>G	ENST00000372781.3	+	2	188	c.131A>G	c.(130-132)aAg>aGg	p.K44R	SEMG1_ENST00000244069.6_Missense_Mutation_p.K44R	NM_003007.3	NP_002998.1	P04279	SEMG1_HUMAN	semenogelin I	44					insemination (GO:0007320)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|secretory granule (GO:0030141)	structural molecule activity (GO:0005198)			cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|prostate(1)|skin(6)|stomach(2)|urinary_tract(1)	32		Myeloproliferative disorder(115;0.0122)				CACGGACAAAAGGGCCAGCAC	0.388																																						ENST00000372781.3																			0				cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|prostate(1)|skin(6)|stomach(2)|urinary_tract(1)	32						c.(130-132)aAg>aGg		semenogelin I							114	118	117					20																	43836069		2203	4300	6503	SO:0001583	missense	6406							g.chr20:43836069A>G		CCDS13345.1	20q12-q13.2	2009-08-06			ENSG00000124233	ENSG00000124233			10742	protein-coding gene	gene with protein product	"semen coagulating protein", "cancer/testis antigen 103"	182140		SEMG		2912989, 15563730	Standard	NM_003007		Approved	CT103		P04279	OTTHUMG00000032565	ENST00000372781.3:c.131A>G	20.37:g.43836069A>G	ENSP00000361867:p.Lys44Arg					SEMG1_ENST00000244069.6_Missense_Mutation_p.K44R	p.K44R	NM_003007.3	NP_002998.1					2	188	+		Myeloproliferative disorder(115;0.0122)						Q53ZV0|Q53ZV1|Q53ZV2|Q6X4I9|Q6Y809|Q6Y822|Q6Y823|Q86U64|Q96QM3	Missense_Mutation	SNP	ENST00000372781.3	37	c.131A>G	CCDS13345.1	.	.	.	.	.	.	.	.	.	.	A	7.527	0.657848	0.14645	.	.	ENSG00000124233	ENST00000244069;ENST00000372781	T;T	0.06608	3.28;3.28	2.05	0.853	0.19001	.	.	.	.	.	T	0.05686	0.0149	L	0.45581	1.43	0.09310	N	1	B;B;B	0.27910	0.058;0.193;0.071	B;B;B	0.22152	0.022;0.036;0.038	T	0.36553	-0.9743	9	0.45353	T	0.12	.	4.1025	0.10020	0.8112:0.0:0.1888:0.0	.	44;44;44	P04279-2;P04279;E7EPD3	.;SEMG1_HUMAN;.	R	44	ENSP00000244069:K44R;ENSP00000361867:K44R	ENSP00000244069:K44R	K	+	2	0	SEMG1	43269483	0.001000	0.12720	0.000000	0.03702	0.077000	0.17291	0.868000	0.27982	0.196000	0.20367	0.377000	0.23210	AAG		0.388	SEMG1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079416.3	NM_003007		4	136	0	0	0	0.000602	0	4	136					G	43836069	A	G	43836069	3	3	198	1	0	0	0	0	1	0	0	0	14044	72	3	4	137	4	SEMG1	20	43836069	Missense_Mutation	SNP	A	TCGA-HC-7079-01A-11D-1961-08		43836069	19189451	4	9187											
GATA1	2623	broad.mit.edu	37	chrX	48650528	48650528	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatagtgcttatgggggcccTgacttttccagtaccttctt	7	15	9	10	0	1	1	0	1	1	0	2	1	2	1	3	2	2	2	3	2	4	7			TCGA-HC-7079-01A-11D-1961-08	TCGA-HC-7079-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f1ca00a-84ba-4b26-a1a5-4d83c363ac69	c359bee4-8d3a-4855-a6b6-1e09aefd2b2e	g.chrX:48650528T>C	ENST00000376670.3	+	3	609	c.498T>C	c.(496-498)ccT>ccC	p.P166P	GATA1_ENST00000376665.3_Silent_p.P166P	NM_002049.3	NP_002040.1	P15976	GATA1_HUMAN	GATA binding protein 1 (globin transcription factor 1)	166					basophil differentiation (GO:0030221)|blood coagulation (GO:0007596)|cell-cell signaling (GO:0007267)|cellular response to thyroid hormone stimulus (GO:0097067)|dendritic cell differentiation (GO:0097028)|embryonic hemopoiesis (GO:0035162)|eosinophil differentiation (GO:0030222)|eosinophil fate commitment (GO:0035854)|erythrocyte development (GO:0048821)|erythrocyte differentiation (GO:0030218)|in utero embryonic development (GO:0001701)|male gonad development (GO:0008584)|megakaryocyte differentiation (GO:0030219)|negative regulation of apoptotic process (GO:0043066)|negative regulation of bone mineralization (GO:0030502)|negative regulation of cell proliferation (GO:0008285)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|platelet aggregation (GO:0070527)|platelet formation (GO:0030220)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of osteoblast proliferation (GO:0033690)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of definitive erythrocyte differentiation (GO:0010724)|regulation of glycoprotein biosynthetic process (GO:0010559)|transcription from RNA polymerase II promoter (GO:0006366)|transcriptional activation by promoter-enhancer looping (GO:0071733)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	C2H2 zinc finger domain binding (GO:0070742)|chromatin DNA binding (GO:0031490)|DNA binding (GO:0003677)|DNA binding, bending (GO:0008301)|enhancer sequence-specific DNA binding (GO:0001158)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)|zinc ion binding (GO:0008270)	p.?(2)		breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(259)|large_intestine(8)|lung(9)|prostate(1)	283						ATGGGGGCCCTGACTTTTCCA	0.582			"Mis, F"		megakaryoblastic leukemia of Downs Syndrome																																Pancreas(9;429 505 11287 29617)	ENST00000376670.3				Dom	yes		X	Xp11.23	2623	"Mis, F"	GATA binding protein 1 (globin transcription factor 1)			L			megakaryoblastic leukemia of Downs Syndrome		2	Unknown(2)	p.?(2)	haematopoietic_and_lymphoid_tissue(2)	breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(259)|large_intestine(8)|lung(9)|prostate(1)	283						c.(496-498)ccT>ccC		GATA binding protein 1 (globin transcription factor 1)							56	53	54					X																	48650528		2203	4300	6503	SO:0001819	synonymous_variant	2623				basophil differentiation|eosinophil differentiation|erythrocyte development|megakaryocyte differentiation|platelet aggregation|platelet formation|positive regulation of anti-apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|regulation of glycoprotein biosynthetic process|transcription from RNA polymerase II promoter	nuclear membrane|nucleolus|nucleoplasm	C2H2 zinc finger domain binding|RNA polymerase II regulatory region sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chrX:48650528T>C	X17254	CCDS14305.1	Xp11.23	2014-09-17	2001-11-28		ENSG00000102145	ENSG00000102145		"GATA zinc finger domain containing"	4170	protein-coding gene	gene with protein product	"nuclear factor, erythroid 1"	305371	"GATA-binding protein 1 (globin transcription factor 1)"	GF1		1999341	Standard	NM_002049		Approved	ERYF1, NFE1, GATA-1, NF-E1	uc004dkq.4	P15976	OTTHUMG00000021504	ENST00000376670.3:c.498T>C	X.37:g.48650528T>C						GATA1_ENST00000376665.3_Silent_p.P166P	p.P166P	NM_002049.3	NP_002040.1	P15976	GATA1_HUMAN			3	609	+			166					Q96GB8	Silent	SNP	ENST00000376670.3	37	c.498T>C	CCDS14305.1																																																																																				0.582	GATA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056517.1	NM_002049		3	50	0	0	0	0.009096	0	3	50					C	48650528	T	C	48650528	2	2	198	1	0	0	0	0	0	0	0	1	6253	1567	55	4		4	GATA1	23	48650528	Silent	SNP	T	TCGA-HC-7079-01A-11D-1961-08		48650528	106620032	5	9188											
IQCC	55721	broad.mit.edu	37	chr1	32673327	32673327	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtctgcactctatgaggacTcaaatattaaggagatgtct	12	13	9	7	0	4	2	1	1	3	1	4	4	4	3	0	2	1	1	0	2	4	3			TCGA-HC-7080-01A-11D-1961-08	TCGA-HC-7080-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3bbac3a7-c057-4b25-acbe-f195ef6045ff	93783be5-df68-4487-ac57-940bf725cbbd	g.chr1:32673327T>C	ENST00000291358.6	+	5	1066	c.1045T>C	c.(1045-1047)Tca>Cca	p.S349P	DCDC2B_ENST00000409358.1_5'Flank|RP4-622L5.7_ENST00000373604.4_RNA|RP4-622L5.7_ENST00000421616.1_RNA|IQCC_ENST00000537469.1_Missense_Mutation_p.S429P	NM_018134.2	NP_060604.2	Q4KMZ1	IQCC_HUMAN	IQ motif containing C	349										endometrium(4)|large_intestine(1)|lung(3)|ovary(4)|skin(2)|urinary_tract(1)	15		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				CTATGAGGACTCAAATATTAA	0.498																																						ENST00000537469.1																			0				endometrium(4)|large_intestine(1)|lung(3)|ovary(4)|skin(2)|urinary_tract(1)	15						c.(1285-1287)Tca>Cca		IQ motif containing C							68	76	74					1																	32673327		2203	4300	6503	SO:0001583	missense	55721							g.chr1:32673327T>C	AL049795	CCDS355.1, CCDS53293.1	1p36.11-p34.2	2008-02-05			ENSG00000160051	ENSG00000160051			25545	protein-coding gene	gene with protein product							Standard	NM_018134		Approved	FLJ10547	uc001bum.2	Q4KMZ1	OTTHUMG00000005739	ENST00000291358.6:c.1045T>C	1.37:g.32673327T>C	ENSP00000291358:p.Ser349Pro					IQCC_ENST00000291358.6_Missense_Mutation_p.S349P	p.S429P	NM_001160042.1	NP_001153514.1	Q4KMZ1	IQCC_HUMAN			5	1332	+		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)	349					F5H7T8|Q4KMS3|Q4KMZ5|Q53FL2|Q5TFJ8|Q9NVS3	Missense_Mutation	SNP	ENST00000291358.6	37	c.1285T>C	CCDS355.1	.	.	.	.	.	.	.	.	.	.	T	0.009	-1.824315	0.00589	.	.	ENSG00000160051	ENST00000537469;ENST00000291358	T;T	0.23552	1.9;1.94	3.88	-0.206	0.13193	.	0.460978	0.18636	N	0.135453	T	0.05135	0.0137	N	0.01352	-0.895	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.33954	-0.9848	10	0.02654	T	1	-0.6988	2.2808	0.04113	0.3411:0.3918:0.1673:0.0998	.	429;349	F5H7T8;Q4KMZ1	.;IQCC_HUMAN	P	429;349	ENSP00000442291:S429P;ENSP00000291358:S349P	ENSP00000291358:S349P	S	+	1	0	IQCC	32445914	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.060000	0.14342	-0.021000	0.14009	-2.841000	0.00105	TCA		0.498	IQCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000015731.3	NM_018134		3	151	0	0	0	0.009096	0	3	151					C	32673327	T	C	32673327	3	2	199	1	0	0	0	0	1	0	0	0	7804	1551	54	4	1303	4	IQCC	1	32673327	Missense_Mutation	SNP	T	TCGA-HC-7080-01A-11D-1961-08		32673327	216577294	1	9189											
CD101	9398	broad.mit.edu	37	chr1	117552477	117552477	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tctcctacttacaagctaagCtcagcattggccagagagaa	13	9	8	11	0	2	2	1	0	1	2	3	3	2	2	2	1	5	3	2	1	5	4			TCGA-HC-7080-01A-11D-1961-08	TCGA-HC-7080-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3bbac3a7-c057-4b25-acbe-f195ef6045ff	93783be5-df68-4487-ac57-940bf725cbbd	g.chr1:117552477C>T	ENST00000256652.4	+	2	107	c.49C>T	c.(49-51)Ctc>Ttc	p.L17F	CD101_ENST00000369470.1_Missense_Mutation_p.L17F	NM_001256106.1|NM_001256109.1|NM_001256111.1|NM_004258.4	NP_001243035.1|NP_001243038.1|NP_001243040.1|NP_004249.2	Q93033	IGSF2_HUMAN	CD101 molecule	17					cell surface receptor signaling pathway (GO:0007166)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides (GO:0016812)			NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(14)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						ACAAGCTAAGCTCAGCATTGG	0.443																																						ENST00000256652.4																			0				NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(14)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						c.(49-51)Ctc>Ttc		CD101 molecule							74	76	75					1																	117552477		2203	4300	6503	SO:0001583	missense	9398				cell surface receptor linked signaling pathway	integral to membrane|plasma membrane	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides	g.chr1:117552477C>T	Z33642	CCDS891.1	1p13	2013-01-29	2009-10-27	2009-10-27	ENSG00000134256	ENSG00000134256		"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5949	protein-coding gene	gene with protein product		604516	"immunoglobulin superfamily, member 2"	IGSF2		7722300	Standard	NM_004258		Approved	V7	uc010oxb.2	Q93033	OTTHUMG00000012029	ENST00000256652.4:c.49C>T	1.37:g.117552477C>T	ENSP00000256652:p.Leu17Phe					CD101_ENST00000369470.1_Missense_Mutation_p.L17F	p.L17F	NM_001256106.1|NM_001256109.1|NM_001256111.1|NM_004258.4	NP_001243035.1|NP_001243038.1|NP_001243040.1|NP_004249.2	Q93033	IGSF2_HUMAN			2	107	+			17					Q15856	Missense_Mutation	SNP	ENST00000256652.4	37	c.49C>T	CCDS891.1	.	.	.	.	.	.	.	.	.	.	C	9.344	1.063836	0.20067	.	.	ENSG00000134256	ENST00000256652;ENST00000369470	T;T	0.04156	3.69;3.69	5.79	4.87	0.63330	Immunoglobulin-like fold (1);	0.264494	0.27586	N	0.018718	T	0.01695	0.0054	L	0.33485	1.01	0.26672	N	0.971706	B	0.29508	0.246	B	0.26094	0.066	T	0.41945	-0.9480	10	0.35671	T	0.21	-12.5549	13.0834	0.59127	0.0:0.9214:0.0:0.0786	.	17	Q93033	IGSF2_HUMAN	F	17	ENSP00000256652:L17F;ENSP00000358482:L17F	ENSP00000256652:L17F	L	+	1	0	CD101	117354000	1.000000	0.71417	1.000000	0.80357	0.161000	0.22273	1.775000	0.38584	1.418000	0.47098	0.655000	0.94253	CTC		0.443	CD101-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033274.1	NM_004258		28	39	0	0	0	0.009535	0	28	39					T	117552477	C	T	117552477	3	4	199	1	0	0	0	0	1	0	0	0	2962	797	28	3	55	3	CD101	1	117552477	Missense_Mutation	SNP	C	TCGA-HC-7080-01A-11D-1961-08	84879150	117552477	131698144	2	9190											
LCE2B	26239	broad.mit.edu	37	chr1	152659383	152659383	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	agtgtcctcccaagtgtaccCcaaaatgtccacctaagtgt	11	10	7	13	0	0	0	0	0	0	0	3	0	3	0	6	0	1	1	6	0	5	2	rs146504201		TCGA-HC-7080-01A-11D-1961-08	TCGA-HC-7080-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3bbac3a7-c057-4b25-acbe-f195ef6045ff	93783be5-df68-4487-ac57-940bf725cbbd	g.chr1:152659383C>T	ENST00000368780.3	+	2	118	c.64C>T	c.(64-66)Cca>Tca	p.P22S	LCE2B_ENST00000417924.2_Missense_Mutation_p.P22S	NM_014357.4	NP_055172.1	O14633	LCE2B_HUMAN	late cornified envelope 2B	22	Cys-rich.|Pro-rich.				epidermis development (GO:0008544)|keratinization (GO:0031424)					endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	11	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			CAAGTGTACCCCAAAATGTCC	0.547																																						ENST00000368780.3																			0				endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	11						c.(64-66)Cca>Tca		late cornified envelope 2B							118	118	118					1																	152659383		2203	4300	6503	SO:0001583	missense	26239				keratinization			g.chr1:152659383C>T	BI670514	CCDS1020.1	1q21	2008-02-05	2004-10-11	2004-10-15	ENSG00000159455	ENSG00000159455		"Late cornified envelopes"	16610	protein-coding gene	gene with protein product		612610	"small proline rich-like (epidermal differentiation complex) 1B"	SPRL1B		11698679, 9344646	Standard	NM_014357		Approved	LEP10, XP5	uc001fai.3	O14633	OTTHUMG00000012404	ENST00000368780.3:c.64C>T	1.37:g.152659383C>T	ENSP00000357769:p.Pro22Ser					LCE2B_ENST00000417924.2_Missense_Mutation_p.P22S	p.P22S	NM_014357.4	NP_055172.1	O14633	LCE2B_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	118	+	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		22			Cys-rich.|Pro-rich.		Q5TA80	Missense_Mutation	SNP	ENST00000368780.3	37	c.64C>T	CCDS1020.1	.	.	.	.	.	.	.	.	.	.	C	3.492	-0.103719	0.06967	.	.	ENSG00000159455	ENST00000417924;ENST00000368780	T;T	0.04970	3.52;3.52	2.46	2.46	0.29980	.	.	.	.	.	T	0.06050	0.0157	M	0.85542	2.76	0.09310	N	1	B	0.27997	0.197	B	0.37888	0.26	T	0.20107	-1.0285	9	0.41790	T	0.15	.	8.4052	0.32610	0.0:1.0:0.0:0.0	.	22	O14633	LCE2B_HUMAN	S	22	ENSP00000414043:P22S;ENSP00000357769:P22S	ENSP00000357769:P22S	P	+	1	0	LCE2B	150926007	0.001000	0.12720	0.100000	0.21137	0.528000	0.34623	0.350000	0.20079	1.360000	0.45960	0.313000	0.20887	CCA		0.547	LCE2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034524.1	NM_014357		145	66	0	0	0	0.01441	0	145	66					T	152659383	C	T	152659383	3	4	199	1	0	0	0	0	1	0	0	0	8666	623	22	3	66	3	LCE2B	1	152659383	Missense_Mutation	SNP	C	TCGA-HC-7080-01A-11D-1961-08	35106906	152659383	96591238	3	9191											
CACNA1E	777	broad.mit.edu	37	chr1	181767512	181767512	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcgtcggcagctcccacccGtcccgccaaagccccggccc	5	4	10	22	5	0	0	0	0	0	0	4	0	2	0	7	2	2	2	7	2	1	0	rs373618053	byFrequency	TCGA-HC-7080-01A-11D-1961-08	TCGA-HC-7080-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3bbac3a7-c057-4b25-acbe-f195ef6045ff	93783be5-df68-4487-ac57-940bf725cbbd	g.chr1:181767512G>A	ENST00000367573.2	+	48	6484	c.6484G>A	c.(6484-6486)Gtc>Atc	p.V2162I	CACNA1E_ENST00000526775.1_Missense_Mutation_p.V2100I|CACNA1E_ENST00000367570.1_Missense_Mutation_p.V2119I|CACNA1E_ENST00000358338.5_Missense_Mutation_p.V2051I|CACNA1E_ENST00000360108.3_Missense_Mutation_p.V2143I|CACNA1E_ENST00000367567.4_Missense_Mutation_p.V1726I|CACNA1E_ENST00000357570.5_Missense_Mutation_p.V2113I	NM_001205293.1	NP_001192222.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	2162					calcium ion import (GO:0070509)|energy reserve metabolic process (GO:0006112)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|voltage-gated calcium channel activity (GO:0005245)			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						GCTCCCACCCGTCCCGCCAAA	0.627													G|||	3	0.000599042	0.0015	0	5008	,	,		16293	0		0	False		,,,				2504	0.001					ENST00000526775.1																			0				NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						c.(6298-6300)Gtc>Atc		calcium channel, voltage-dependent, R type, alpha 1E subunit		G	ILE/VAL,ILE/VAL,ILE/VAL	1,3993		0,1,1996	81	94	90		6355,6484,6298	3.7	0.3	1		90	1,8307		0,1,4153	no	missense,missense,missense	CACNA1E	NM_000721.3,NM_001205293.1,NM_001205294.1	29,29,29	0,2,6149	AA,AG,GG		0.012,0.025,0.0163	possibly-damaging,possibly-damaging,possibly-damaging	2119/2271,2162/2314,2100/2252	181767512	2,12300	1997	4154	6151	SO:0001583	missense	777				energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr1:181767512G>A	AK096563	CCDS53443.1, CCDS55664.1, CCDS55665.1	1q25.3	2013-01-10	2007-02-16		ENSG00000198216	ENSG00000198216		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels", "EF-hand domain containing"	1392	protein-coding gene	gene with protein product		601013		CACNL1A6		8388125, 16382099	Standard	NM_001205293		Approved	Cav2.3, BII, CACH6	uc009wxt.3	Q15878	OTTHUMG00000037301	ENST00000367573.2:c.6484G>A	1.37:g.181767512G>A	ENSP00000356545:p.Val2162Ile					CACNA1E_ENST00000358338.5_Missense_Mutation_p.V2051I|CACNA1E_ENST00000367573.2_Missense_Mutation_p.V2162I|CACNA1E_ENST00000367567.4_Missense_Mutation_p.V1726I|CACNA1E_ENST00000367570.1_Missense_Mutation_p.V2119I|CACNA1E_ENST00000360108.3_Missense_Mutation_p.V2143I|CACNA1E_ENST00000357570.5_Missense_Mutation_p.V2113I	p.V2100I	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN			46	6463	+			2162					B1AM12|B1AM13|B1AM14|Q14580|Q14581	Missense_Mutation	SNP	ENST00000367573.2	37	c.6298G>A	CCDS55664.1	.	.	.	.	.	.	.	.	.	.	G	18.58	3.654889	0.67472	2.5E-4	1.2E-4	ENSG00000198216	ENST00000367570;ENST00000526775;ENST00000357570;ENST00000358338;ENST00000367567;ENST00000360108;ENST00000367573	D;D;D;D;D;D;D	0.96300	-3.9;-3.9;-3.9;-3.9;-3.97;-3.91;-3.9	5.55	3.66	0.41972	.	0.405200	0.26432	N	0.024414	D	0.93197	0.7833	N	0.22421	0.69	0.37095	D	0.899647	D;B	0.61080	0.989;0.306	P;B	0.47915	0.561;0.038	D	0.93286	0.6664	10	0.66056	D	0.02	.	11.6544	0.51309	0.0684:0.1229:0.8087:0.0	.	2100;2119	Q15878-2;Q15878-3	.;.	I	2119;2100;2113;2051;1726;2143;2162	ENSP00000356542:V2119I;ENSP00000434814:V2100I;ENSP00000350183:V2113I;ENSP00000351101:V2051I;ENSP00000356539:V1726I;ENSP00000353222:V2143I;ENSP00000356545:V2162I	ENSP00000350183:V2113I	V	+	1	0	CACNA1E	180034135	1.000000	0.71417	0.258000	0.24420	0.878000	0.50629	3.732000	0.55021	0.665000	0.31066	-0.336000	0.08194	GTC		0.627	CACNA1E-003	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090793.2	NM_000721		51	21	0	0	0	0.01441	0	51	21					A	181767512	G	A	181767512	3	1	199	1	0	0	0	0	1	0	0	0	2542	1145	40	1	6541	1	CACNA1E	1	181767512	Missense_Mutation	SNP	G	TCGA-HC-7080-01A-11D-1961-08	29108129	181767512	67483109	4	9192											
LGR6	59352	broad.mit.edu	37	chr1	202205107	202205107	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gaggcgctgtgggagctgccGagcctgcagtcgctgtgagt	5	8	18	10	3	0	1	0	1	0	0	1	4	0	2	2	2	4	4	2	2	0	0	rs563539874		TCGA-HC-7080-01A-11D-1961-08	TCGA-HC-7080-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3bbac3a7-c057-4b25-acbe-f195ef6045ff	93783be5-df68-4487-ac57-940bf725cbbd	g.chr1:202205107G>A	ENST00000367278.3	+	4	503	c.414G>A	c.(412-414)ccG>ccA	p.P138P	LGR6_ENST00000255432.7_Silent_p.P86P|LGR6_ENST00000439764.2_Silent_p.P95P	NM_001017403.1	NP_001017403.1	Q9HBX8	LGR6_HUMAN	leucine-rich repeat containing G protein-coupled receptor 6	138					G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell migration (GO:0030335)|positive regulation of Wnt signaling pathway (GO:0030177)|Wnt signaling pathway (GO:0016055)	integral component of plasma membrane (GO:0005887)|trans-Golgi network membrane (GO:0032588)|vesicle (GO:0031982)	transmembrane signaling receptor activity (GO:0004888)			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	36						GGGAGCTGCCGAGCCTGCAGT	0.607													G|||	1	0.000199681	0	0	5008	,	,		16696	0		0	False		,,,				2504	0.001					ENST00000367278.3																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	36						c.(412-414)ccG>ccA		leucine-rich repeat containing G protein-coupled receptor 6							48	53	51					1																	202205107		2203	4300	6503	SO:0001819	synonymous_variant	59352					integral to membrane|plasma membrane	protein-hormone receptor activity	g.chr1:202205107G>A	AF190501	CCDS1424.1, CCDS30971.1, CCDS30972.1	1q32.1	2012-08-21	2011-01-25		ENSG00000133067	ENSG00000133067		"GPCR / Class A : Orphans"	19719	protein-coding gene	gene with protein product		606653	"leucine-rich repeat-containing G protein-coupled receptor 6"			10935549	Standard	XM_005245404		Approved	FLJ14471	uc001gxu.3	Q9HBX8	OTTHUMG00000041383	ENST00000367278.3:c.414G>A	1.37:g.202205107G>A						LGR6_ENST00000255432.7_Silent_p.P86P|LGR6_ENST00000439764.2_Silent_p.P95P	p.P138P	NM_001017403.1	NP_001017403.1	Q9HBX8	LGR6_HUMAN			4	503	+			138					Q5T509|Q5T512|Q6UY15|Q86VU0|Q96K69|Q9BYD7	Silent	SNP	ENST00000367278.3	37	c.414G>A	CCDS30971.1																																																																																				0.607	LGR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000099143.1	NM_021636		5	67	0	0	0	0.001168	0	5	67					A	202205107	G	A	202205107	2	1	199	1	0	0	0	0	0	0	0	1	8758	1045	37	2		2	LGR6	1	202205107	Silent	SNP	G	TCGA-HC-7080-01A-11D-1961-08	20437595	202205107	47045514	5	9193											
SIPA1L2	57568	broad.mit.edu	37	chr1	232649979	232649979	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgcctgtctggcccgtaggCatctgagtctgggatgctgc	4	12	14	11	1	3	1	0	1	3	0	3	2	3	2	2	3	3	3	2	3	1	2	rs113255944	byFrequency	TCGA-HC-7080-01A-11D-1961-08	TCGA-HC-7080-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3bbac3a7-c057-4b25-acbe-f195ef6045ff	93783be5-df68-4487-ac57-940bf725cbbd	g.chr1:232649979C>T	ENST00000366630.1	-	2	1465	c.1107G>A	c.(1105-1107)atG>atA	p.M369I	SIPA1L2_ENST00000262861.4_Missense_Mutation_p.M369I			Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like 2	369					regulation of small GTPase mediated signal transduction (GO:0051056)		GTPase activator activity (GO:0005096)			NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				GGCCCGTAGGCATCTGAGTCT	0.507													C|||	4	0.000798722	0.003	0	5008	,	,		19603	0		0	False		,,,				2504	0					ENST00000366630.1																			0				NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103						c.(1105-1107)atG>atA		signal-induced proliferation-associated 1 like 2		C	ILE/MET	19,3873		0,19,1927	103	105	104		1107	4.5	1	1	dbSNP_132	104	0,8282		0,0,4141	yes	missense	SIPA1L2	NM_020808.3	10	0,19,6068	TT,TC,CC		0.0,0.4882,0.1561	benign	369/1723	232649979	19,12155	1946	4141	6087	SO:0001583	missense	57568				regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity	g.chr1:232649979C>T	AB037810	CCDS41474.1	1q42.2	2008-02-05			ENSG00000116991	ENSG00000116991			23800	protein-coding gene	gene with protein product		611609					Standard	NM_020808		Approved	KIAA1389	uc001hvg.3	Q9P2F8	OTTHUMG00000037820	ENST00000366630.1:c.1107G>A	1.37:g.232649979C>T	ENSP00000355589:p.Met369Ile					SIPA1L2_ENST00000262861.4_Missense_Mutation_p.M369I	p.M369I			Q9P2F8	SI1L2_HUMAN			2	1465	-		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)	369					Q2TV88|Q5VXR7|Q5VXR8|Q641Q4|Q8NA38|Q96DZ3|Q9H9F6	Missense_Mutation	SNP	ENST00000366630.1	37	c.1107G>A	CCDS41474.1	3	0.0013736263736263737	3	0.006097560975609756	0	0.0	0	0.0	0	0.0	C	8.958	0.969918	0.18659	0.004882	0.0	ENSG00000116991	ENST00000366630;ENST00000262861	T;T	0.77489	-1.1;-1.1	5.39	4.46	0.54185	.	0.514098	0.24350	N	0.039285	T	0.48370	0.1496	N	0.08118	0	0.28358	N	0.92059	B	0.02656	0.0	B	0.04013	0.001	T	0.45026	-0.9289	10	0.32370	T	0.25	-14.58	8.7381	0.34541	0.1566:0.7686:0.0:0.0749	.	369	Q9P2F8	SI1L2_HUMAN	I	369	ENSP00000355589:M369I;ENSP00000262861:M369I	ENSP00000262861:M369I	M	-	3	0	SIPA1L2	230716602	0.897000	0.30589	0.988000	0.46212	0.727000	0.41649	1.187000	0.32090	1.451000	0.47736	0.650000	0.86243	ATG		0.507	SIPA1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092318.1	XM_045839		6	139	0	0	0	0.001168	0	6	139					T	232649979	C	T	232649979	3	4	199	1	0	0	0	0	1	0	0	0	14330	710	25	3	4145	3	SIPA1L2	1	232649979	Missense_Mutation	SNP	C	TCGA-HC-7080-01A-11D-1961-08	30444872	232649979	16600642	6	9194											
AFF3	3899	broad.mit.edu	37	chr2	100203740	100203740	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtagtcgtcttcgttgtcacActgtatgggaataaactaaa	12	13	9	7	2	2	0	1	0	1	0	4	1	2	1	0	1	1	3	0	1	7	6			TCGA-HC-7080-01A-11D-1961-08	TCGA-HC-7080-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3bbac3a7-c057-4b25-acbe-f195ef6045ff	93783be5-df68-4487-ac57-940bf725cbbd	g.chr2:100203740A>G	ENST00000409236.2	-	14	2579	c.2467T>C	c.(2467-2469)Tgt>Cgt	p.C823R	AFF3_ENST00000356421.2_Splice_Site_p.C848R|AFF3_ENST00000409579.1_Splice_Site_p.C848R|AFF3_ENST00000317233.4_Splice_Site_p.C823R			P51826	AFF3_HUMAN	AF4/FMR2 family, member 3	823					embryonic hindlimb morphogenesis (GO:0035116)|regulation of transcription, DNA-templated (GO:0006355)|response to tumor necrosis factor (GO:0034612)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)			NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						TCGTTGTCACACTGTATGGGA	0.493																																						ENST00000317233.4																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						c.e15-1		AF4/FMR2 family, member 3							229	197	208					2																	100203740		2203	4300	6503	SO:0001630	splice_region_variant	3899				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr2:100203740A>G	U34360	CCDS33258.1, CCDS42723.1	2q11.2-q12	2008-02-05	2005-06-27	2005-06-27	ENSG00000144218	ENSG00000144218			6473	protein-coding gene	gene with protein product		601464	"lymphoid nuclear protein related to AF4"	LAF4		8662235, 8555498	Standard	XM_005263945		Approved	MLLT2-like	uc002taf.3	P51826	OTTHUMG00000153011	ENST00000409236.2:c.2467-1T>C	2.37:g.100203740A>G						AFF3_ENST00000409236.1_Splice_Site_p.C823_splice|AFF3_ENST00000356421.2_Splice_Site_p.C848_splice|AFF3_ENST00000409579.1_Splice_Site_p.C848_splice	p.C823_splice	NM_002285.2	NP_002276.2	P51826	AFF3_HUMAN			15	2702	-			823					B7ZM46|B9EGL9|D3DVI6|Q53RD6|Q53S47|Q53SI6|Q53TB9|Q59F27|Q8IWJ5	Splice_Site	SNP	ENST00000409236.2	37	c.2466_splice	CCDS42723.1	.	.	.	.	.	.	.	.	.	.	A	7.819	0.717269	0.15372	.	.	ENSG00000144218	ENST00000317233;ENST00000356421;ENST00000409579;ENST00000409236;ENST00000433370;ENST00000444786	T;T;T;T	0.62941	-0.01;-0.01;-0.01;-0.01	5.92	4.74	0.60224	.	0.317881	0.30979	N	0.008491	T	0.66587	0.2804	L	0.51422	1.61	0.58432	D	0.999997	P;B;P	0.50819	0.939;0.162;0.731	P;B;B	0.57846	0.828;0.187;0.444	T	0.61481	-0.7054	10	0.18276	T	0.48	.	10.8637	0.46842	0.9281:0.0:0.0719:0.0	.	976;823;848	B7Z4I6;P51826;P51826-2	.;AFF3_HUMAN;.	R	823;848;848;823;823;976	ENSP00000317421:C823R;ENSP00000348793:C848R;ENSP00000386834:C848R;ENSP00000387207:C823R	ENSP00000317421:C823R	C	-	1	0	AFF3	99570172	1.000000	0.71417	1.000000	0.80357	0.558000	0.35554	4.362000	0.59467	1.029000	0.39812	0.533000	0.62120	TGT		0.493	AFF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328982.3	NM_002285	Missense_Mutation	66	95	0	0	0	0.01441	0	66	95					G	100203740	A	G	100203740	5	3	199	1	0	0	0	0	0	0	1	0	358	173	6	4	1253	4	AFF3	2	100203740	Splice_Site	SNP	A	TCGA-HC-7080-01A-11D-1961-08		100203740	142995633	7	9195											
SSB	6741	broad.mit.edu	37	chr2	170667531	170667531	+	Frame_Shift_Del	DEL	C	C	-																															aatagaagaccaacaagaatCcctaaacaaatggaagtcaa																										TCGA-HC-7080-01A-11D-1961-08	TCGA-HC-7080-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3bbac3a7-c057-4b25-acbe-f195ef6045ff	93783be5-df68-4487-ac57-940bf725cbbd	g.chr2:170667531delC	ENST00000409333.1	+	10	1221	c.974delC	c.(973-975)tccfs	p.S325fs	SSB_ENST00000260956.4_Frame_Shift_Del_p.S325fs|METTL5_ENST00000409837.1_Intron			P05455	LA_HUMAN	Sjogren syndrome antigen B (autoantigen La)	325					histone mRNA metabolic process (GO:0008334)|tRNA modification (GO:0006400)	nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|tRNA binding (GO:0000049)			endometrium(3)|large_intestine(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						CAACAAGAATCCCTAAACAAA	0.343																																						ENST00000409333.1																			0				endometrium(3)|large_intestine(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						c.(973-975)tcfs		Sjogren syndrome antigen B (autoantigen La)							51	52	51					2																	170667531		2203	4300	6503	SO:0001589	frameshift_variant	6741				histone mRNA metabolic process|tRNA modification	nucleus|ribonucleoprotein complex	mRNA binding|nucleotide binding|protein binding|tRNA binding	g.chr2:170667531delC		CCDS2237.1	2q31.1	2014-02-14		2005-06-16	ENSG00000138385	ENSG00000138385		"La ribonucleoprotein domain containing", "RNA binding motif (RRM) containing"	11316	protein-coding gene	gene with protein product	"La ribonucleoprotein domain family, member 3"	109090					Standard	NM_003142		Approved	LARP3, La, La/SSB	uc002ufk.3	P05455	OTTHUMG00000132212	ENST00000409333.1:c.974delC	2.37:g.170667531delC	ENSP00000386636:p.Ser325fs					SSB_ENST00000260956.4_Frame_Shift_Del_p.S325fs|METTL5_ENST00000409837.1_Intron	p.S325fs			P05455	LA_HUMAN			10	1221	+			325					Q15367|Q53XJ4	Frame_Shift_Del	DEL	ENST00000409333.1	37	c.974delC	CCDS2237.1																																																																																				0.343	SSB-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333316.1	NM_003142		23	10						23	10	---	---	---	---	-	170667531	C	-	170667531	7	5	199	1	0	1	0	1	0	0	0	0	15177	855	30	0	1008	0	SSB	2	170667531	Frame_Shift_Del	DEL	C	TCGA-HC-7080-01A-11D-1961-08	70463791	170667531	72531842	8	9196											
SF3B1	23451	broad.mit.edu	37	chr2	198267739	198267739	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	taatcttcatcaatcaatagCggttcaatgaccacgaggat	14	11	7	9	2	5	1	4	1	1	0	5	3	5	2	1	2	1	1	1	2	5	4	rs566175207	byFrequency	TCGA-HC-7080-01A-11D-1961-08	TCGA-HC-7080-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3bbac3a7-c057-4b25-acbe-f195ef6045ff	93783be5-df68-4487-ac57-940bf725cbbd	g.chr2:198267739C>T	ENST00000335508.6	-	13	1831	c.1740G>A	c.(1738-1740)ccG>ccA	p.P580P	SF3B1_ENST00000462613.1_5'Flank|SNORA4_ENST00000365564.1_RNA	NM_012433.2	NP_036565.2	O75533	SF3B1_HUMAN	splicing factor 3b, subunit 1, 155kDa	580					anterior/posterior pattern specification (GO:0009952)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U12-type spliceosomal complex (GO:0005689)	chromatin binding (GO:0003682)|poly(A) RNA binding (GO:0044822)			NS(35)|breast(10)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(524)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|pancreas(4)|prostate(6)|salivary_gland(1)|skin(4)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	633			OV - Ovarian serous cystadenocarcinoma(117;0.246)			CAATCAATAGCGGTTCAATGA	0.333			Mis		myelodysplastic syndrome								C|||	2	0.000399361	0	0	5008	,	,		18377	0		0	False		,,,				2504	0.002					ENST00000335508.5				Dom	yes		2	2q33.1	23451	Mis	"splicing factor 3b, subunit 1, 155kDa"			L			myelodysplastic syndrome		0				NS(35)|breast(10)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(524)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|pancreas(4)|prostate(6)|salivary_gland(1)|skin(4)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	633						c.(1738-1740)ccG>ccA		splicing factor 3b, subunit 1, 155kDa							58	56	57					2																	198267739		2203	4299	6502	SO:0001819	synonymous_variant	23451				nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|nuclear speck|U12-type spliceosomal complex	protein binding	g.chr2:198267739C>T	AF054284	CCDS33356.1, CCDS46479.1	2q33.1	2014-09-17	2002-08-29		ENSG00000115524	ENSG00000115524			10768	protein-coding gene	gene with protein product		605590	"splicing factor 3b, subunit 1, 155kD"			9585501	Standard	XM_005246428		Approved	SAP155, SF3b155, PRPF10, Prp10, Hsh155	uc002uue.3	O75533	OTTHUMG00000154447	ENST00000335508.6:c.1740G>A	2.37:g.198267739C>T							p.P580P	NM_012433.2	NP_036565.2	O75533	SF3B1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.246)		13	1831	-			580					E9PCH3	Silent	SNP	ENST00000335508.6	37	c.1740G>A	CCDS33356.1																																																																																				0.333	SF3B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335245.2			30	39	0	0	0	0.013726	0	30	39					T	198267739	C	T	198267739	2	4	199	1	0	0	0	0	0	0	0	1	14149	755	27	1		1	SF3B1	2	198267739	Silent	SNP	C	TCGA-HC-7080-01A-11D-1961-08	27600208	198267739	44931634	9	9197											
LRRFIP1	9208	broad.mit.edu	37	chr2	238671963	238671963	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcaggaagcgacaggtccaaGtacagtagacactcaaaatg	16	6	10	9	1	2	1	2	0	0	1	3	3	3	2	1	2	2	2	1	2	6	2			TCGA-HC-7080-01A-11D-1961-08	TCGA-HC-7080-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3bbac3a7-c057-4b25-acbe-f195ef6045ff	93783be5-df68-4487-ac57-940bf725cbbd	g.chr2:238671963G>A	ENST00000392000.4	+	11	1724	c.1607G>A	c.(1606-1608)aGt>aAt	p.S536N	LRRFIP1_ENST00000244815.5_Missense_Mutation_p.S512N|LRRFIP1_ENST00000308482.9_Intron|LRRFIP1_ENST00000289175.6_Missense_Mutation_p.S480N	NM_001137552.1	NP_001131024.1	Q32MZ4	LRRF1_HUMAN	leucine rich repeat (in FLII) interacting protein 1	536	DNA-binding.				innate immune response (GO:0045087)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of type I interferon production (GO:0032481)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|protein homodimerization activity (GO:0042803)			NS(1)|breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	29		Breast(86;0.00257)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)		Epithelial(121;9.75e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.01e-10)|Kidney(56;4.85e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.31e-07)|BRCA - Breast invasive adenocarcinoma(100;0.000151)|Lung(119;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0325)|COAD - Colon adenocarcinoma(134;0.228)		ACAGGTCCAAGTACAGTAGAC	0.473																																						ENST00000244815.5																			0				NS(1)|breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	29						c.(1534-1536)aGt>aAt		leucine rich repeat (in FLII) interacting protein 1							77	84	81					2																	238671963		2203	4300	6503	SO:0001583	missense	9208				negative regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|cytoskeleton|nucleus	DNA binding|double-stranded RNA binding|protein binding	g.chr2:238671963G>A	AJ223075	CCDS2521.1, CCDS46551.1, CCDS46552.1, CCDS46553.1	2q37.3	2010-09-30			ENSG00000124831	ENSG00000124831			6702	protein-coding gene	gene with protein product	"GC-binding factor 2"	603256				9705290, 9525888, 16199883	Standard	NM_004735		Approved	FLAP-1, FLIIAP1, TRIP, GCF-2, HUFI-1	uc002vxe.3	Q32MZ4	OTTHUMG00000133339	ENST00000392000.4:c.1607G>A	2.37:g.238671963G>A	ENSP00000375857:p.Ser536Asn					LRRFIP1_ENST00000289175.6_Missense_Mutation_p.S480N|LRRFIP1_ENST00000308482.9_Intron|LRRFIP1_ENST00000392000.4_Missense_Mutation_p.S536N	p.S512N	NM_004735.3	NP_004726.2	Q32MZ4	LRRF1_HUMAN		Epithelial(121;9.75e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.01e-10)|Kidney(56;4.85e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.31e-07)|BRCA - Breast invasive adenocarcinoma(100;0.000151)|Lung(119;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0325)|COAD - Colon adenocarcinoma(134;0.228)	10	1775	+		Breast(86;0.00257)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)	536			DNA-binding.		E9PGZ2|O75766|O75799|Q32MZ5|Q53T49|Q6PKG2|Q9Y607	Missense_Mutation	SNP	ENST00000392000.4	37	c.1535G>A	CCDS46552.1	.	.	.	.	.	.	.	.	.	.	G	11.25	1.583364	0.28268	.	.	ENSG00000124831	ENST00000289175;ENST00000244815;ENST00000392000	T;T;T	0.10763	2.84;2.84;2.85	5.06	0.733	0.18289	.	2.277220	0.01393	N	0.013319	T	0.06096	0.0158	N	0.14661	0.345	0.09310	N	1	B;B;B	0.32160	0.358;0.244;0.358	B;B;B	0.27500	0.08;0.055;0.08	T	0.24368	-1.0162	10	0.25106	T	0.35	7.0E-4	2.7209	0.05200	0.1696:0.2515:0.4508:0.1282	.	480;536;512	Q32MZ4-3;Q32MZ4;Q32MZ4-2	.;LRRF1_HUMAN;.	N	480;512;536	ENSP00000289175:S480N;ENSP00000244815:S512N;ENSP00000375857:S536N	ENSP00000244815:S512N	S	+	2	0	LRRFIP1	238336702	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.488000	0.06497	0.197000	0.20387	0.655000	0.94253	AGT		0.473	LRRFIP1-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000317198.1	NM_004735		50	70	0	0	0	0.01441	0	50	70					A	238671963	G	A	238671963	3	1	199	1	0	0	0	0	1	0	0	0	9027	1029	36	3	2325	3	LRRFIP1	2	238671963	Missense_Mutation	SNP	G	TCGA-HC-7080-01A-11D-1961-08	40404224	238671963	4527410	10	9198											
WNT7A	7476	broad.mit.edu	37	chr3	13896275	13896275	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acgccggcggcaatgatggcGtaggtgaacgcagcctcccg	8	5	15	13	6	0	2	0	2	0	0	1	2	1	2	3	4	2	3	3	4	3	1			TCGA-HC-7080-01A-11D-1961-08	TCGA-HC-7080-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3bbac3a7-c057-4b25-acbe-f195ef6045ff	93783be5-df68-4487-ac57-940bf725cbbd	g.chr3:13896275G>A	ENST00000285018.4	-	3	628	c.324C>T	c.(322-324)taC>taT	p.Y108Y		NM_004625.3	NP_004616.2	O00755	WNT7A_HUMAN	wingless-type MMTV integration site family, member 7A	108					asymmetric protein localization (GO:0008105)|canonical Wnt signaling pathway (GO:0060070)|cartilage condensation (GO:0001502)|cell fate commitment (GO:0045165)|cell proliferation in forebrain (GO:0021846)|cellular response to transforming growth factor beta stimulus (GO:0071560)|central nervous system vasculogenesis (GO:0022009)|cerebellar granule cell differentiation (GO:0021707)|chondrocyte differentiation (GO:0002062)|dorsal/ventral pattern formation (GO:0009953)|embryonic axis specification (GO:0000578)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|establishment of cell polarity (GO:0030010)|lens fiber cell development (GO:0070307)|negative regulation of apoptotic process (GO:0043066)|negative regulation of neurogenesis (GO:0050768)|neuron differentiation (GO:0030182)|neurotransmitter secretion (GO:0007269)|non-canonical Wnt signaling pathway (GO:0035567)|oviduct development (GO:0060066)|palate development (GO:0060021)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of epithelial cell proliferation involved in wound healing (GO:0060054)|positive regulation of JNK cascade (GO:0046330)|positive regulation of synapse assembly (GO:0051965)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of axon diameter (GO:0031133)|response to estradiol (GO:0032355)|sex differentiation (GO:0007548)|skeletal muscle satellite cell activation (GO:0014719)|skeletal muscle satellite cell maintenance involved in skeletal muscle regeneration (GO:0014834)|somatic stem cell division (GO:0048103)|somatic stem cell maintenance (GO:0035019)|stem cell development (GO:0048864)|synapse organization (GO:0050808)|uterus morphogenesis (GO:0061038)|Wnt signaling pathway involved in wound healing, spreading of epidermal cells (GO:0035659)	cell surface (GO:0009986)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	cytokine activity (GO:0005125)|frizzled binding (GO:0005109)|receptor agonist activity (GO:0048018)|receptor binding (GO:0005102)			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	24						CAATGATGGCGTAGGTGAACG	0.627																																						ENST00000285018.4																			0				NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	24						c.(322-324)taC>taT		wingless-type MMTV integration site family, member 7A							69	67	67					3																	13896275		2203	4300	6503	SO:0001819	synonymous_variant	7476				activation of JUN kinase activity|anterior/posterior pattern formation|canonical Wnt receptor signaling pathway|cell proliferation in forebrain|cellular response to transforming growth factor beta stimulus|central nervous system vasculogenesis|cerebellar granule cell differentiation|dorsal/ventral pattern formation|embryonic axis specification|embryonic digit morphogenesis|embryonic forelimb morphogenesis|embryonic leg morphogenesis|lens fiber cell development|negative regulation of neurogenesis|palate development|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of JNK cascade|positive regulation of synaptogenesis|positive regulation of transcription from RNA polymerase II promoter|regulation of axon diameter|satellite cell activation|satellite cell maintenance involved in skeletal muscle regeneration|sex differentiation|uterus development|Wnt receptor signaling pathway involved in wound healing, spreading of epidermal cells|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	cytokine activity|frizzled binding|receptor agonist activity|signal transducer activity	g.chr3:13896275G>A	D83175	CCDS2616.1	3p25	2008-07-18			ENSG00000154764	ENSG00000154764		"Wingless-type MMTV integration sites"	12786	protein-coding gene	gene with protein product	"proto-oncogene Wnt7a protein"	601570				8893824, 9161407	Standard	NM_004625		Approved		uc003bye.1	O00755	OTTHUMG00000129803	ENST00000285018.4:c.324C>T	3.37:g.13896275G>A							p.Y108Y	NM_004625.3	NP_004616.2	O00755	WNT7A_HUMAN			3	628	-			108					Q96H90|Q9Y560	Silent	SNP	ENST00000285018.4	37	c.324C>T	CCDS2616.1																																																																																				0.627	WNT7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252031.2	NM_004625		57	62	0	0	0	0.01441	0	57	62					A	13896275	G	A	13896275	2	1	199	1	0	0	0	0	0	0	0	1	17391	1140	40	1		1	WNT7A	3	13896275	Silent	SNP	G	TCGA-HC-7080-01A-11D-1961-08		13896275	184126155	11	9199											
LTF	4057	broad.mit.edu	37	chr3	46491405	46491405	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aggtacagcccagaatctatCctcgggggcaccctcgaaaa	12	6	10	13	2	1	1	0	0	1	1	4	2	2	1	3	3	2	2	3	3	5	2			TCGA-HC-7080-01A-11D-1961-08	TCGA-HC-7080-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3bbac3a7-c057-4b25-acbe-f195ef6045ff	93783be5-df68-4487-ac57-940bf725cbbd	g.chr3:46491405C>A	ENST00000231751.4	-	8	1291	c.996G>T	c.(994-996)agG>agT	p.R332S	LTF_ENST00000417439.1_Missense_Mutation_p.R332S|LTF_ENST00000426532.2_Missense_Mutation_p.R288S	NM_002343.3	NP_002334.2	P02788	TRFL_HUMAN	lactotransferrin	332	Transferrin-like 1. {ECO:0000255|PROSITE- ProRule:PRU00741}.				antibacterial humoral response (GO:0019731)|antifungal humoral response (GO:0019732)|bone morphogenesis (GO:0060349)|humoral immune response (GO:0006959)|innate immune response in mucosa (GO:0002227)|interaction with host (GO:0051701)|iron assimilation by chelation and transport (GO:0033214)|iron ion transport (GO:0006826)|negative regulation of apoptotic process (GO:0043066)|negative regulation of lipopolysaccharide-mediated signaling pathway (GO:0031665)|negative regulation of osteoclast development (GO:2001205)|negative regulation of single-species biofilm formation in or on host organism (GO:1900229)|negative regulation of tumor necrosis factor (ligand) superfamily member 11 production (GO:2000308)|ossification (GO:0001503)|phagosome maturation (GO:0090382)|positive regulation of bone mineralization involved in bone maturation (GO:1900159)|positive regulation of chondrocyte proliferation (GO:1902732)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of osteoblast proliferation (GO:0033690)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of toll-like receptor 4 signaling pathway (GO:0034145)|regulation of cytokine production (GO:0001817)|regulation of tumor necrosis factor production (GO:0032680)|response to host immune response (GO:0052572)|retina homeostasis (GO:0001895)|transcription, DNA-templated (GO:0006351)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|phagocytic vesicle lumen (GO:0097013)|secretory granule (GO:0030141)|specific granule (GO:0042581)	DNA binding (GO:0003677)|ferric iron binding (GO:0008199)|heparin binding (GO:0008201)|iron ion binding (GO:0005506)|protein serine/threonine kinase activator activity (GO:0043539)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	40				all cancers(1;7.55e-14)|GBM - Glioblastoma multiforme(1;2.1e-09)|Epithelial(1;9.25e-07)|Colorectal(1;3.81e-05)|BRCA - Breast invasive adenocarcinoma(193;0.00129)|COAD - Colon adenocarcinoma(1;0.00308)|KIRC - Kidney renal clear cell carcinoma(197;0.0205)|Kidney(197;0.0242)|OV - Ovarian serous cystadenocarcinoma(275;0.089)		CAGAATCTATCCTCGGGGGCA	0.557																																						ENST00000231751.4																			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	40						c.(994-996)agG>agT		lactotransferrin	Pefloxacin(DB00487)						73	73	73					3																	46491405		2203	4296	6499	SO:0001583	missense	4057				cellular iron ion homeostasis|defense response to bacterium|humoral immune response|iron ion transport	extracellular region|stored secretory granule	ferric iron binding|heparin binding|protein binding|serine-type endopeptidase activity	g.chr3:46491405C>A		CCDS33747.1, CCDS56251.1	3p21.31	2012-10-02			ENSG00000012223	ENSG00000012223			6720	protein-coding gene	gene with protein product		150210				17476971, 3356163	Standard	NM_001199149		Approved	HLF2	uc003cpq.3	P02788	OTTHUMG00000156325	ENST00000231751.4:c.996G>T	3.37:g.46491405C>A	ENSP00000231751:p.Arg332Ser					LTF_ENST00000417439.1_Missense_Mutation_p.R332S|LTF_ENST00000426532.2_Missense_Mutation_p.R288S	p.R332S	NM_002343.3	NP_002334.2	P02788	TRFL_HUMAN		all cancers(1;7.55e-14)|GBM - Glioblastoma multiforme(1;2.1e-09)|Epithelial(1;9.25e-07)|Colorectal(1;3.81e-05)|BRCA - Breast invasive adenocarcinoma(193;0.00129)|COAD - Colon adenocarcinoma(1;0.00308)|KIRC - Kidney renal clear cell carcinoma(197;0.0205)|Kidney(197;0.0242)|OV - Ovarian serous cystadenocarcinoma(275;0.089)	8	1291	-			332			Transferrin-like 1.		A8K9U8|B2MV13|B7Z4X2|E7EQH5|O00756|Q16780|Q16785|Q16786|Q16789|Q5DSM0|Q8IU92|Q8IZH6|Q8TCD2|Q96KZ4|Q96KZ5|Q9H1Z3|Q9UCY5	Missense_Mutation	SNP	ENST00000231751.4	37	c.996G>T	CCDS33747.1	.	.	.	.	.	.	.	.	.	.	C	9.143	1.014378	0.19277	.	.	ENSG00000012223	ENST00000231751;ENST00000426532;ENST00000417439;ENST00000443496	T;T;T;T	0.13089	2.62;2.62;2.62;2.62	4.84	-1.63	0.08345	.	0.854643	0.10825	N	0.630036	T	0.07773	0.0195	N	0.11870	0.19	0.09310	N	1	P;P;P	0.36577	0.453;0.558;0.453	B;B;B	0.43331	0.416;0.348;0.416	T	0.28427	-1.0044	10	0.46703	T	0.11	-0.8823	1.1412	0.01766	0.1471:0.3626:0.1436:0.3467	.	332;319;332	E7ER44;E7EQB2;P02788	.;.;TRFL_HUMAN	S	332;288;332;319	ENSP00000231751:R332S;ENSP00000405719:R288S;ENSP00000405546:R332S;ENSP00000397427:R319S	ENSP00000231751:R332S	R	-	3	2	LTF	46466409	0.001000	0.12720	0.000000	0.03702	0.000000	0.00434	-0.171000	0.09883	-0.314000	0.08716	-1.102000	0.02115	AGG		0.557	LTF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000343951.2	NM_002343		30	26	1	0	2.70662e-09	0.009535	1.05891e-08	30	26					A	46491405	C	A	46491405	3	1	199	1	0	0	0	0	1	0	0	0	9079	854	30	5	1176	5	LTF	3	46491405	Missense_Mutation	SNP	C	TCGA-HC-7080-01A-11D-1961-08	32595130	46491405	151531025	12	9200											
BBX	56987	broad.mit.edu	37	chr3	107491592	107491592	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aggaagaaaaagaaattaaaAtggagaaaacagatgaaact	25	5	9	2	0	0	5	0	1	0	4	0	7	0	6	0	2	2	0	0	2	9	1			TCGA-HC-7080-01A-11D-1961-08	TCGA-HC-7080-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3bbac3a7-c057-4b25-acbe-f195ef6045ff	93783be5-df68-4487-ac57-940bf725cbbd	g.chr3:107491592A>G	ENST00000325805.8	+	11	1311	c.1024A>G	c.(1024-1026)Atg>Gtg	p.M342V	BBX_ENST00000402543.1_Missense_Mutation_p.M342V|BBX_ENST00000406780.1_Missense_Mutation_p.M342V|BBX_ENST00000416476.2_Intron|BBX_ENST00000415149.2_Missense_Mutation_p.M342V			Q8WY36	BBX_HUMAN	bobby sox homolog (Drosophila)	342					bone development (GO:0060348)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(18)|ovary(4)|pancreas(1)|skin(2)	49			OV - Ovarian serous cystadenocarcinoma(3;0.112)			AGAAATTAAAATGGAGAAAAC	0.323																																						ENST00000415149.2																			0				breast(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(18)|ovary(4)|pancreas(1)|skin(2)	49						c.(1024-1026)Atg>Gtg		bobby sox homolog (Drosophila)							59	70	66					3																	107491592		2184	4291	6475	SO:0001583	missense	56987				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr3:107491592A>G	AF168718	CCDS2950.1, CCDS46881.1, CCDS63712.1	3q13.1	2008-07-18			ENSG00000114439	ENSG00000114439			14422	protein-coding gene	gene with protein product	"x 001 protein"					11680820	Standard	NM_001142568		Approved	MDS001, HSPC339, HBP2	uc010hpr.4	Q8WY36	OTTHUMG00000150360	ENST00000325805.8:c.1024A>G	3.37:g.107491592A>G	ENSP00000319974:p.Met342Val					BBX_ENST00000325805.8_Missense_Mutation_p.M342V|BBX_ENST00000402543.1_Missense_Mutation_p.M342V|BBX_ENST00000416476.2_Intron|BBX_ENST00000406780.1_Missense_Mutation_p.M342V	p.M342V	NM_001142568.1|NM_020235.5	NP_001136040.1|NP_064620.2	Q8WY36	BBX_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;0.112)		11	1351	+			342					A2RRM7|Q2TAJ1|Q7L3J8|Q7LBY8|Q8NDB0|Q8WY35|Q9H0J6	Missense_Mutation	SNP	ENST00000325805.8	37	c.1024A>G	CCDS46881.1	.	.	.	.	.	.	.	.	.	.	A	0.091	-1.166944	0.01660	.	.	ENSG00000114439	ENST00000415149;ENST00000325767;ENST00000402543;ENST00000325805;ENST00000402163;ENST00000406780	D;D;D;D;D	0.98120	-4.31;-4.3;-4.32;-4.73;-4.31	6.16	1.57	0.23409	.	0.769288	0.13349	N	0.394580	D	0.89876	0.6842	N	0.05124	-0.11	0.19300	N	0.999977	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.79393	-0.1822	10	0.02654	T	1	0.235	7.4231	0.27083	0.5577:0.0:0.4423:0.0	.	342;342;342	C9JA69;Q8WY36;Q8WY36-2	.;BBX_HUMAN;.	V	342;193;342;342;342;342	ENSP00000408358:M342V;ENSP00000385317:M342V;ENSP00000319974:M342V;ENSP00000385518:M342V;ENSP00000385530:M342V	ENSP00000319742:M193V	M	+	1	0	BBX	108974282	0.998000	0.40836	0.979000	0.43373	0.811000	0.45836	0.379000	0.20585	-0.028000	0.13850	0.528000	0.53228	ATG		0.323	BBX-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317820.1	NM_020235		82	101	0	0	0	0.01441	0	82	101					G	107491592	A	G	107491592	3	3	199	1	0	0	0	0	1	0	0	0	1343	101	4	4	1054	4	BBX	3	107491592	Missense_Mutation	SNP	A	TCGA-HC-7080-01A-11D-1961-08	61000187	107491592	90530838	13	9201											
BOD1L	259282	broad.mit.edu	37	chr4	13610188	13610189	+	Frame_Shift_Ins	INS	-	-	T																															ctctttttgcttaaggctacINSttttttttctaaaactttcc																										TCGA-HC-7080-01A-11D-1961-08	TCGA-HC-7080-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3bbac3a7-c057-4b25-acbe-f195ef6045ff	93783be5-df68-4487-ac57-940bf725cbbd	g.chr4:13610188_13610189insT	ENST00000040738.5	-	8	1842_1843	c.1707_1708insA	c.(1705-1710)aaagtafs	p.V570fs		NM_148894.2	NP_683692.2	Q8NFC6	BD1L1_HUMAN	biorientation of chromosomes in cell division 1-like 1	570	Lys-rich.					nucleus (GO:0005634)	DNA binding (GO:0003677)										CTTAAGGCTACTTTTTTTTCTA	0.366																																						ENST00000040738.5																			0											c.(1705-1710)aatagcfs		biorientation of chromosomes in cell division 1-like 1																																				SO:0001589	frameshift_variant	259282						DNA binding	g.chr4:13610188_13610189insT	AF528529	CCDS3411.2	4p16.1	2012-04-10	2012-04-10	2012-04-10	ENSG00000038219	ENSG00000038219			31792	protein-coding gene	gene with protein product			"family with sequence similarity 44, member A", "biorientation of chromosomes in cell division 1-like"	FAM44A, BOD1L			Standard	XM_005248150		Approved	FLJ33215, KIAA1327	uc003gmz.1	Q8NFC6	OTTHUMG00000090659	ENST00000040738.5:c.1708dupA	4.37:g.13610196_13610196dupT	ENSP00000040738:p.Val570fs						p.NS569fs	NM_148894.2	NP_683692.2	Q8NFC6	BOD1L_HUMAN			8	1842_1843	-			569			Lys-rich.		Q6P0M8|Q96AL1|Q9H6G0|Q9NTD6|Q9P2L9	Frame_Shift_Ins	INS	ENST00000040738.5	37	c.1707_1708insA	CCDS3411.2																																																																																				0.366	BOD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207321.1	NM_148894		5	10						5	10	---	---	---	---	T	13610189	-	T	13610188	7	5	199	1	0	1	1	0	0	0	0	0	1483	565	20	0	7523	0	BOD1L	4	13610188	Frame_Shift_Ins	INS	-	TCGA-HC-7080-01A-11D-1961-08		13610188	177544088	14	9202											
TRIML1	339976	broad.mit.edu	37	chr4	189061023	189061023	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgcccaccactgccaaggCgctctccgatgacgagcagg	9	5	12	15	3	1	1	0	1	1	0	2	4	1	1	4	2	3	2	4	2	1	0	rs377254358		TCGA-HC-7080-01A-11D-1961-08	TCGA-HC-7080-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3bbac3a7-c057-4b25-acbe-f195ef6045ff	93783be5-df68-4487-ac57-940bf725cbbd	g.chr4:189061023C>T	ENST00000332517.3	+	1	451	c.311C>T	c.(310-312)gCg>gTg	p.A104V	RP11-366H4.3_ENST00000501322.2_RNA	NM_178556.3	NP_848651.2	Q8N9V2	TRIML_HUMAN	tripartite motif family-like 1	104					multicellular organismal development (GO:0007275)|protein ubiquitination (GO:0016567)		ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(3)|breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	60		all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062)		OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156)		ACTGCCAAGGCGCTCTCCGAT	0.642																																					Melanoma(31;213 1036 16579 23968 32372)	ENST00000332517.3																			0				NS(3)|breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	60						c.(310-312)gCg>gTg		tripartite motif family-like 1		C	VAL/ALA	0,4406		0,0,2203	42	40	41		311	-0.4	0	4		41	1,8599	1.2+/-3.3	0,1,4299	no	missense	TRIML1	NM_178556.3	64	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	104/469	189061023	1,13005	2203	4300	6503	SO:0001583	missense	339976				multicellular organismal development		ligase activity|zinc ion binding	g.chr4:189061023C>T	AK093499	CCDS3851.1	4q35.2	2013-01-09			ENSG00000184108	ENSG00000184108		"RING-type (C3HC4) zinc fingers"	26698	protein-coding gene	gene with protein product						12477932	Standard	NM_178556		Approved	FLJ36180, RNF209	uc003izm.1	Q8N9V2	OTTHUMG00000160237	ENST00000332517.3:c.311C>T	4.37:g.189061023C>T	ENSP00000327738:p.Ala104Val						p.A104V	NM_178556.3	NP_848651.2	Q8N9V2	TRIML_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156)	1	451	+		all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062)	104					Q96BE5	Missense_Mutation	SNP	ENST00000332517.3	37	c.311C>T	CCDS3851.1	.	.	.	.	.	.	.	.	.	.	C	8.075	0.771162	0.16051	0.0	1.16E-4	ENSG00000184108	ENST00000332517	T	0.60797	0.16	5.06	-0.409	0.12378	.	1.154560	0.06420	N	0.722216	T	0.27524	0.0676	N	0.02011	-0.69	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.14392	-1.0474	10	0.44086	T	0.13	-3.197	3.6006	0.08023	0.1641:0.3183:0.0:0.5176	.	104	Q8N9V2	TRIML_HUMAN	V	104	ENSP00000327738:A104V	ENSP00000327738:A104V	A	+	2	0	TRIML1	189298017	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.782000	0.26788	-0.130000	0.11599	0.561000	0.74099	GCG		0.642	TRIML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359813.1	NM_178556		18	33	0	0	0	0.006122	0	18	33					T	189061023	C	T	189061023	3	4	199	1	0	0	0	0	1	0	0	0	16547	768	27	1	313	1	TRIML1	4	189061023	Missense_Mutation	SNP	C	TCGA-HC-7080-01A-11D-1961-08	175450835	189061023	2093253	15	9203											
PCDHA9	9752	broad.mit.edu	37	chr5	140229692	140229692	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacagttccaggtgagcgcgCgcgacgcgggcgtgccgcct	5	6	16	14	8	0	1	0	1	0	0	1	2	1	1	3	2	3	1	3	2	1	2			TCGA-HC-7080-01A-11D-1961-08	TCGA-HC-7080-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3bbac3a7-c057-4b25-acbe-f195ef6045ff	93783be5-df68-4487-ac57-940bf725cbbd	g.chr5:140229692C>T	ENST00000532602.1	+	1	2645	c.1612C>T	c.(1612-1614)Cgc>Tgc	p.R538C	PCDHA6_ENST00000529310.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA9_ENST00000378122.3_Missense_Mutation_p.R538C|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000530339.1_Intron	NM_031857.1	NP_114063.1	Q9Y5H5	PCDA9_HUMAN	protocadherin alpha 9	538	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	59			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGTGAGCGCGCGCGACGCGGG	0.667																																					Melanoma(55;1800 1972 14909)	ENST00000378122.3																			0				breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	59						c.(1612-1614)Cgc>Tgc									59	67	64					5																	140229692		2195	4269	6464	SO:0001583	missense	0							g.chr5:140229692C>T	AF152487	CCDS54920.1	5q31	2010-11-26				ENSG00000204961		"Cadherins / Protocadherins : Clustered"	8675	other	complex locus constituent	"KIAA0345-like 5"	606315				10380929	Standard	NM_031857		Approved	KIAA0345, PCDH-ALPHA9		Q9Y5H5		ENST00000532602.1:c.1612C>T	5.37:g.140229692C>T	ENSP00000436042:p.Arg538Cys					PCDHA1_ENST00000394633.3_Intron|PCDHA9_ENST00000532602.1_Missense_Mutation_p.R538C|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron	p.R538C	NM_014005.3	NP_054724.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2336	+								O15053|Q2M3S5	Missense_Mutation	SNP	ENST00000532602.1	37	c.1612C>T	CCDS54920.1	.	.	.	.	.	.	.	.	.	.	C	11.92	1.783281	0.31593	.	.	ENSG00000204961	ENST00000532602;ENST00000378122	T;T	0.54866	0.55;0.55	3.56	2.69	0.31865	Cadherin (5);Cadherin-like (1);	0.000000	0.31660	U	0.007279	T	0.56587	0.1995	L	0.46819	1.47	0.30351	N	0.784816	B;D	0.89917	0.435;1.0	B;P	0.62014	0.082;0.897	T	0.56733	-0.7930	10	0.72032	D	0.01	.	5.4878	0.16759	0.5013:0.4002:0.0:0.0985	.	538;538	Q9Y5H5;Q9Y5H5-2	PCDA9_HUMAN;.	C	538	ENSP00000436042:R538C;ENSP00000367362:R538C	ENSP00000367362:R538C	R	+	1	0	PCDHA9	140209876	0.000000	0.05858	1.000000	0.80357	0.764000	0.43329	-1.950000	0.01530	0.834000	0.34852	-0.676000	0.03789	CGC		0.667	PCDHA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372896.2	NM_031857		105	129	0	0	0	0.01441	0	105	129					T	140229692	C	T	140229692	3	4	199	1	0	0	0	0	1	0	0	0	11531	768	27	1	1614	1	PCDHA9	5	140229692	Missense_Mutation	SNP	C	TCGA-HC-7080-01A-11D-1961-08		140229692	40685568	16	9204											
CAGE1	285782	broad.mit.edu	37	chr6	7373784	7373784	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gttgcatttcagtcatgtacCtttcctgtaaacacacataa	12	14	5	10	0	2	0	2	0	0	0	3	0	3	0	2	0	3	4	2	0	4	6			TCGA-HC-7080-01A-11D-1961-08	TCGA-HC-7080-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3bbac3a7-c057-4b25-acbe-f195ef6045ff	93783be5-df68-4487-ac57-940bf725cbbd	g.chr6:7373784C>T	ENST00000512086.1	-	5	1470	c.1268G>A	c.(1267-1269)aGg>aAg	p.R423K	CAGE1_ENST00000379918.4_Missense_Mutation_p.R423K|CAGE1_ENST00000296742.7_Missense_Mutation_p.R287K|CAGE1_ENST00000509324.1_5'Flank|CAGE1_ENST00000502583.1_Missense_Mutation_p.R423K|CAGE1_ENST00000338150.4_Missense_Mutation_p.R423K			Q8TC20	CAGE1_HUMAN	cancer antigen 1	423										breast(1)|cervix(1)|endometrium(3)|kidney(2)|lung(11)|urinary_tract(1)	19	Ovarian(93;0.0418)					AGTCATGTACCTTTCCTGTAA	0.348																																						ENST00000502583.1																			0				breast(1)|cervix(1)|endometrium(3)|kidney(2)|lung(11)|urinary_tract(1)	19						c.(1267-1269)aGg>aAg		cancer antigen 1							110	97	101					6																	7373784		1863	4098	5961	SO:0001583	missense	285782							g.chr6:7373784C>T	BC026194	CCDS47367.1, CCDS54964.1, CCDS54965.1	6p24.3	2009-08-06	2005-01-26	2005-01-27	ENSG00000164304	ENSG00000164304			21622	protein-coding gene	gene with protein product	"cancer/testis antigen 95"	608304	"cancer/testis antigen 3"	CTAG3		12531476	Standard	NM_205864		Approved	bA69L16.7, CT95	uc003mxl.2	Q8TC20	OTTHUMG00000014200	ENST00000512086.1:c.1268G>A	6.37:g.7373784C>T	ENSP00000427583:p.Arg423Lys					CAGE1_ENST00000512086.1_Missense_Mutation_p.R423K|CAGE1_ENST00000338150.4_Missense_Mutation_p.R423K|CAGE1_ENST00000296742.7_Missense_Mutation_p.R287K|CAGE1_ENST00000379918.4_Missense_Mutation_p.R423K	p.R423K	NM_001170692.1	NP_001164163.1	Q8TC20	CAGE1_HUMAN			5	1832	-	Ovarian(93;0.0418)		423					D6RCT9|Q5TAM0|Q86TM4|Q8N7R5	Missense_Mutation	SNP	ENST00000512086.1	37	c.1268G>A		.	.	.	.	.	.	.	.	.	.	C	6.245	0.413283	0.11812	.	.	ENSG00000164304	ENST00000541116;ENST00000379918;ENST00000502583;ENST00000296742;ENST00000512086;ENST00000338150;ENST00000542431;ENST00000512691	T;T;T;T;T;T	0.32753	1.44;1.44;1.44;1.44;1.44;1.44	5.66	3.56	0.40772	.	0.268243	0.32488	N	0.006037	T	0.07954	0.0199	L	0.35854	1.095	0.23645	N	0.997213	B;B;B	0.28350	0.208;0.084;0.208	B;B;B	0.23574	0.038;0.022;0.047	T	0.21415	-1.0246	10	0.17832	T	0.49	-7.2448	8.8897	0.35425	0.0:0.8034:0.0:0.1966	.	423;423;423	Q8TC20-3;D6RCT9;Q8TC20	.;.;CAGE1_HUMAN	K	423;423;423;287;423;423;423;435	ENSP00000369250:R423K;ENSP00000425493:R423K;ENSP00000296742:R287K;ENSP00000427583:R423K;ENSP00000338107:R423K;ENSP00000423789:R435K	ENSP00000296742:R287K	R	-	2	0	CAGE1	7318783	0.063000	0.20901	0.827000	0.32855	0.053000	0.15095	0.107000	0.15375	1.394000	0.46624	0.591000	0.81541	AGG		0.348	CAGE1-008	PUTATIVE	non_canonical_conserved|basic	protein_coding	protein_coding	OTTHUMT00000367136.1	NM_175745		43	50	0	0	0	0.00874	0	43	50					T	7373784	C	T	7373784	3	4	199	1	0	0	0	0	1	0	0	0	2572	681	24	3	1397	3	CAGE1	6	7373784	Missense_Mutation	SNP	C	TCGA-HC-7080-01A-11D-1961-08		7373784	163741283	17	9205											
BCLAF1	9774	broad.mit.edu	37	chr6	136599103	136599103	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcttggagcattctgtggtgCgattgtctttgcaggacttc	5	16	12	8	1	3	0	0	0	3	0	4	3	3	2	0	3	3	2	0	3	0	5			TCGA-HC-7080-01A-11D-1961-08	TCGA-HC-7080-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3bbac3a7-c057-4b25-acbe-f195ef6045ff	93783be5-df68-4487-ac57-940bf725cbbd	g.chr6:136599103C>T	ENST00000531224.1	-	4	1168	c.916G>A	c.(916-918)Gca>Aca	p.A306T	BCLAF1_ENST00000392348.2_Missense_Mutation_p.A304T|BCLAF1_ENST00000527759.1_Missense_Mutation_p.A304T|BCLAF1_ENST00000527536.1_Missense_Mutation_p.A306T|BCLAF1_ENST00000353331.4_Missense_Mutation_p.A304T|BCLAF1_ENST00000530767.1_Missense_Mutation_p.A306T	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1	306					apoptotic process (GO:0006915)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA-templated transcription, initiation (GO:2000144)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of response to DNA damage stimulus (GO:2001022)|regulation of DNA-templated transcription in response to stress (GO:0043620)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)	p.A306S(1)		haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		TTCTGTGGTGCGATTGTCTTT	0.458																																					Colon(142;1534 1789 5427 7063 28491)	ENST00000531224.1																			1	Substitution - Missense(1)	p.A306S(1)	prostate(1)	haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9						c.(916-918)Gca>Aca		BCL2-associated transcription factor 1							83	78	79					6																	136599103		2203	4298	6501	SO:0001583	missense	9774				induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding	g.chr6:136599103C>T	AF249273	CCDS5177.1, CCDS47485.1, CCDS47486.1, CCDS75525.1	6q22-q23	2007-03-02			ENSG00000029363	ENSG00000029363			16863	protein-coding gene	gene with protein product		612588				8724849, 10330179	Standard	NM_001077440		Approved	KIAA0164, BTF	uc003qgx.1	Q9NYF8	OTTHUMG00000033323	ENST00000531224.1:c.916G>A	6.37:g.136599103C>T	ENSP00000435210:p.Ala306Thr					BCLAF1_ENST00000527759.1_Missense_Mutation_p.A304T|BCLAF1_ENST00000530767.1_Missense_Mutation_p.A306T|BCLAF1_ENST00000392348.2_Missense_Mutation_p.A304T|BCLAF1_ENST00000353331.4_Missense_Mutation_p.A304T|BCLAF1_ENST00000527536.1_Missense_Mutation_p.A306T	p.A306T	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN		GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)	4	1168	-	Colorectal(23;0.24)		306					A2RU75|B7ZM58|E1P586|Q14673|Q86WU6|Q86WY0	Missense_Mutation	SNP	ENST00000531224.1	37	c.916G>A	CCDS5177.1	.	.	.	.	.	.	.	.	.	.	C	9.735	1.163190	0.21538	.	.	ENSG00000029363	ENST00000531224;ENST00000353331;ENST00000527536;ENST00000530767;ENST00000527759;ENST00000392348;ENST00000529826	T;T;T;T;T;T;T	0.13089	2.62;2.62;2.62;2.62;2.62;2.62;2.62	5.82	2.28	0.28536	.	0.260773	0.33534	N	0.004817	T	0.01870	0.0059	N	0.08118	0	0.80722	D	1	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.01281	0.0;0.0;0.0;0.0	T	0.40813	-0.9543	10	0.22109	T	0.4	-6.2172	6.9672	0.24629	0.0:0.1711:0.2362:0.5927	.	304;304;306;306	Q9NYF8-2;Q9NYF8-3;Q9NYF8;Q9NYF8-4	.;.;BCLF1_HUMAN;.	T	306;304;306;306;304;304;306	ENSP00000435210:A306T;ENSP00000229446:A304T;ENSP00000435441:A306T;ENSP00000436501:A306T;ENSP00000434826:A304T;ENSP00000376159:A304T;ENSP00000431734:A306T	ENSP00000229446:A304T	A	-	1	0	BCLAF1	136640796	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	0.522000	0.22909	0.474000	0.27392	-1.128000	0.01989	GCA		0.458	BCLAF1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042375.2	NM_014739		24	130	0	0	0	0.004656	0	24	130					T	136599103	C	T	136599103	3	4	199	1	0	0	0	0	1	0	0	0	1383	768	27	1	1886	1	BCLAF1	6	136599103	Missense_Mutation	SNP	C	TCGA-HC-7080-01A-11D-1961-08	129225319	136599103	34515964	18	9206											
CPNE3	8895	broad.mit.edu	37	chr8	87549807	87549807	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtaggatctatttggaaagtCagacccatacctggaattcc	12	11	9	9	0	2	1	1	0	1	1	3	4	3	4	3	3	1	1	3	3	5	5			TCGA-HC-7080-01A-11D-1961-08	TCGA-HC-7080-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3bbac3a7-c057-4b25-acbe-f195ef6045ff	93783be5-df68-4487-ac57-940bf725cbbd	g.chr8:87549807C>A	ENST00000521271.1	+	7	638	c.476C>A	c.(475-477)tCa>tAa	p.S159*	CPNE3_ENST00000198765.4_Nonsense_Mutation_p.S159*	NM_003909.3	NP_003900.1	O75131	CPNE3_HUMAN	copine III	159	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				lipid metabolic process (GO:0006629)|protein phosphorylation (GO:0006468)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	calcium-dependent phospholipid binding (GO:0005544)|poly(A) RNA binding (GO:0044822)|protein serine/threonine kinase activity (GO:0004674)|transporter activity (GO:0005215)			NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	23						TTTGGAAAGTCAGACCCATAC	0.403																																						ENST00000521271.1																			0				NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	23						c.(475-477)tCa>tAa		copine III							124	113	117					8																	87549807		2203	4300	6503	SO:0001587	stop_gained	8895				lipid metabolic process|vesicle-mediated transport	cytosol	calcium-dependent phospholipid binding|protein serine/threonine kinase activity|transporter activity	g.chr8:87549807C>A	AB014536	CCDS6243.1	8q21	2008-07-03				ENSG00000085719			2316	protein-coding gene	gene with protein product		604207				9430674	Standard	NM_003909		Approved		uc003ydv.2	O75131		ENST00000521271.1:c.476C>A	8.37:g.87549807C>A	ENSP00000430934:p.Ser159*					CPNE3_ENST00000198765.4_Nonsense_Mutation_p.S159*	p.S159*	NM_003909.3	NP_003900.1	O75131	CPNE3_HUMAN			7	638	+			159			C2 2.		A8KA47|Q8IYA1	Nonsense_Mutation	SNP	ENST00000521271.1	37	c.476C>A	CCDS6243.1	.	.	.	.	.	.	.	.	.	.	C	38	6.658862	0.97743	.	.	ENSG00000085719	ENST00000198765;ENST00000521271;ENST00000523072	.	.	.	5.89	5.89	0.94794	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-9.2591	20.2576	0.98430	0.0:1.0:0.0:0.0	.	.	.	.	X	159	.	ENSP00000198765:S159X	S	+	2	0	CPNE3	87618923	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.818000	0.86416	2.783000	0.95769	0.655000	0.94253	TCA		0.403	CPNE3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374994.1			28	43	1	0	7.01153e-11	0.007291	2.79209e-10	28	43					A	87549807	C	A	87549807	4	1	199	1	0	0	0	0	0	1	0	0	3813	838	29	5	494	5	CPNE3	8	87549807	Nonsense_Mutation	SNP	C	TCGA-HC-7080-01A-11D-1961-08		87549807	58814215	19	9207											
FAM75A6	389730	broad.mit.edu	37	chr9	43627707	43627707	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtgacttgtatccccacgAcattctggccatcagagctg	8	11	9	13	1	2	2	1	1	1	1	3	3	3	2	3	1	1	2	3	1	1	3	rs200754251		TCGA-HC-7080-01A-11D-1961-08	TCGA-HC-7080-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3bbac3a7-c057-4b25-acbe-f195ef6045ff	93783be5-df68-4487-ac57-940bf725cbbd	g.chr9:43627707A>G	ENST00000332857.6	-	4	1008	c.980T>C	c.(979-981)gTc>gCc	p.V327A	SPATA31A6_ENST00000496386.1_5'Flank	NM_001145196.1	NP_001138668.1	Q5VVP1	S31A6_HUMAN	SPATA31 subfamily A, member 6	327					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											TATCCCCACGACATTCTGGCC	0.458																																						ENST00000332857.6																			0											c.(979-981)gTc>gCc		SPATA31 subfamily A, member 6																																				SO:0001583	missense	389730							g.chr9:43627707A>G		CCDS75837.1	9p11.2	2012-10-15	2012-10-12	2012-10-12	ENSG00000185775	ENSG00000185775			32006	protein-coding gene	gene with protein product			"family with sequence similarity 75, member A6"	FAM75A6		20850414	Standard	NM_001145196		Approved	OTTHUMG00000013224	uc011lrb.2	Q5VVP1	OTTHUMG00000013224	ENST00000332857.6:c.980T>C	9.37:g.43627707A>G	ENSP00000329825:p.Val327Ala						p.V327A	NM_001145196.1	NP_001138668.1					4	1008	-									Missense_Mutation	SNP	ENST00000332857.6	37	c.980T>C	CCDS47973.1	.	.	.	.	.	.	.	.	.	.	A	5.178	0.218349	0.09810	.	.	ENSG00000185775	ENST00000332857	T	0.03689	3.84	1.91	0.742	0.18341	.	1.139540	0.06749	N	0.779725	T	0.04003	0.0112	L	0.43152	1.355	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.45411	-0.9263	10	0.41790	T	0.15	0.2104	3.755	0.08582	0.7999:0.0:0.2001:0.0	.	327	Q5VVP1	F75A6_HUMAN	A	327	ENSP00000329825:V327A	ENSP00000329825:V327A	V	-	2	0	FAM75A6	43567703	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.032000	0.13732	0.203000	0.20529	0.369000	0.22263	GTC		0.458	SPATA31A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036987.1	NM_001145196		7	384	0	0	0	0.006214	0	7	384					G	43627707	A	G	43627707	3	3	199	1	0	0	0	0	1	0	0	0	5622	275	10	4	3055	4	FAM75A6	9	43627707	Missense_Mutation	SNP	A	TCGA-HC-7080-01A-11D-1961-08		43627707	97585724	20	9208											
LCN9	392399	broad.mit.edu	37	chr9	138557738	138557738	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccaagcattacaggagcccGcccaggcctcccatgcgtga	9	6	10	16	2	0	1	0	1	0	0	2	2	2	2	5	2	4	1	5	2	2	1			TCGA-HC-7080-01A-11D-1961-08	TCGA-HC-7080-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3bbac3a7-c057-4b25-acbe-f195ef6045ff	93783be5-df68-4487-ac57-940bf725cbbd	g.chr9:138557738G>A	ENST00000277526.3	+	6	507	c.507G>A	c.(505-507)ccG>ccA	p.P169P	LCN9_ENST00000430290.2_3'UTR	NM_001001676.1	NP_001001676.1	Q8WX39	LCN9_HUMAN	lipocalin 9	169						extracellular region (GO:0005576)	pheromone binding (GO:0005550)|transporter activity (GO:0005215)			kidney(1)|large_intestine(2)|lung(2)|urinary_tract(1)	6		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;3.43e-07)|Epithelial(140;1.97e-06)|all cancers(34;6.1e-05)		ACAGGAGCCCGCCCAGGCCTC	0.687																																						ENST00000277526.3																			0				kidney(1)|large_intestine(2)|lung(2)|urinary_tract(1)	6						c.(505-507)ccG>ccA		lipocalin 9							21	23	23					9																	138557738		1930	4121	6051	SO:0001819	synonymous_variant	392399					extracellular region	pheromone binding|transporter activity	g.chr9:138557738G>A	AY301270	CCDS56593.1	9q34	2011-11-14			ENSG00000148386	ENSG00000148386		"Lipocalins"	17442	protein-coding gene	gene with protein product	"MUP-like lipocalin", "epididymal-specific lipocalin-9"	612903				15363845	Standard	NM_001001676		Approved		uc004cgk.2	Q8WX39	OTTHUMG00000020916	ENST00000277526.3:c.507G>A	9.37:g.138557738G>A						LCN9_ENST00000430290.2_3'UTR	p.P169P	NM_001001676.1	NP_001001676.1	Q8WX39	LCN9_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;3.43e-07)|Epithelial(140;1.97e-06)|all cancers(34;6.1e-05)	6	507	+		Myeloproliferative disorder(178;0.0821)	169					C9J5F0|Q6JVE7	Silent	SNP	ENST00000277526.3	37	c.507G>A	CCDS56593.1																																																																																				0.687	LCN9-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410711.1	NM_001001676		9	12	0	0	0	0.008291	0	9	12					A	138557738	G	A	138557738	2	1	199	1	0	0	0	0	0	0	0	1	8687	1074	38	1		1	LCN9	9	138557738	Silent	SNP	G	TCGA-HC-7080-01A-11D-1961-08	94930031	138557738	2655693	21	9209											
WAC	51322	broad.mit.edu	37	chr10	28822945	28822945	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	agctgtcacgaccggaggggGgactcgcagccttaccaggt	8	6	15	12	3	1	0	1	0	0	0	2	3	1	2	3	5	3	2	3	5	1	1			TCGA-HC-7080-01A-11D-1961-08	TCGA-HC-7080-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3bbac3a7-c057-4b25-acbe-f195ef6045ff	93783be5-df68-4487-ac57-940bf725cbbd	g.chr10:28822945G>A	ENST00000354911.4	+	2	221	c.60G>A	c.(58-60)ggG>ggA	p.G20G	WAC-AS1_ENST00000527986.1_RNA|WAC_ENST00000375664.4_5'UTR|WAC_ENST00000532233.1_3'UTR|WAC-AS1_ENST00000528337.1_RNA|WAC_ENST00000428935.1_5'UTR|WAC_ENST00000375646.1_5'UTR|WAC_ENST00000347934.4_Silent_p.G20G	NM_016628.4	NP_057712.2	Q9BTA9	WAC_HUMAN	WW domain containing adaptor with coiled-coil	20					cellular response to DNA damage stimulus (GO:0006974)|G1 DNA damage checkpoint (GO:0044783)|histone H2B conserved C-terminal lysine ubiquitination (GO:0071894)|histone monoubiquitination (GO:0010390)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|positive regulation of macroautophagy (GO:0016239)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	chromatin binding (GO:0003682)|RNA polymerase II core binding (GO:0000993)			NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|urinary_tract(1)	32						ACCGGAGGGGGGACTCGCAGC	0.677																																						ENST00000354911.4																			0				NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|urinary_tract(1)	32						c.(58-60)ggG>ggA		WW domain containing adaptor with coiled-coil							25	31	29					10																	28822945		2202	4299	6501	SO:0001819	synonymous_variant	51322				cell cycle checkpoint|histone H2B conserved C-terminal lysine ubiquitination|histone monoubiquitination|positive regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	nuclear speck	chromatin binding|RNA polymerase II core binding	g.chr10:28822945G>A	AK055852	CCDS7159.1, CCDS7160.1, CCDS7161.1	10p12.1	2007-05-17	2003-03-19		ENSG00000095787	ENSG00000095787			17327	protein-coding gene	gene with protein product		615049	"WW domain-containing adaptor with coiled coil"			11827461	Standard	NR_024557		Approved	Wwp4, FLJ31290, PRO1741, BM-016, MGC10753	uc001iuf.3	Q9BTA9	OTTHUMG00000017872	ENST00000354911.4:c.60G>A	10.37:g.28822945G>A						WAC_ENST00000532233.1_3'UTR|WAC_ENST00000428935.1_5'UTR|WAC_ENST00000375646.1_5'UTR|WAC_ENST00000375664.3_5'UTR|WAC_ENST00000347934.4_Silent_p.G20G	p.G20G	NM_016628.4	NP_057712.2	Q9BTA9	WAC_HUMAN			2	221	+			20					A8K2A9|C9JBT9|D3DRW5|D3DRW6|D3DRW7|Q53EN9|Q5JU75|Q5JU77|Q5VXK0|Q5VXK2|Q8TCK1|Q96DP3|Q96FW6|Q96JI3	Silent	SNP	ENST00000354911.4	37	c.60G>A	CCDS7159.1																																																																																				0.677	WAC-017	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000047371.1	NM_100264		4	89	0	0	0	0.000602	0	4	89					A	28822945	G	A	28822945	2	1	199	1	0	0	0	0	0	0	0	1	17244	1219	43	3		3	WAC	10	28822945	Silent	SNP	G	TCGA-HC-7080-01A-11D-1961-08		28822945	106711802	22	9210											
UNC5B	219699	broad.mit.edu	37	chr10	73047379	73047379	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggcggctggtccagctgggCagagtggtcaccctgctcca	5	8	15	13	1	1	1	1	0	0	1	3	1	3	1	3	5	2	4	3	5	0	0			TCGA-HC-7080-01A-11D-1961-08	TCGA-HC-7080-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3bbac3a7-c057-4b25-acbe-f195ef6045ff	93783be5-df68-4487-ac57-940bf725cbbd	g.chr10:73047379C>T	ENST00000335350.6	+	6	1174	c.758C>T	c.(757-759)gCa>gTa	p.A253V	UNC5B_ENST00000373192.4_Missense_Mutation_p.A253V	NM_170744.4	NP_734465.2	Q8IZJ1	UNC5B_HUMAN	unc-5 homolog B (C. elegans)	253	TSP type-1 1. {ECO:0000255|PROSITE- ProRule:PRU00210}.				anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of apoptotic process (GO:0043065)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(4)|skin(4)	49						TCCAGCTGGGCAGAGTGGTCA	0.667																																						ENST00000335350.6																			0				breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(4)|skin(4)	49						c.(757-759)gCa>gTa		unc-5 homolog B (C. elegans)							56	58	57					10																	73047379		2203	4300	6503	SO:0001583	missense	219699				apoptosis|axon guidance|regulation of apoptosis	integral to membrane		g.chr10:73047379C>T	AB096256	CCDS7309.1, CCDS58083.1	10q22.2	2013-01-11	2001-11-28		ENSG00000107731	ENSG00000107731		"Immunoglobulin superfamily / I-set domain containing"	12568	protein-coding gene	gene with protein product		607870	"unc5 (C.elegans homolog) b"				Standard	NM_170744		Approved	UNC5H2, p53RDL1	uc001jro.3	Q8IZJ1	OTTHUMG00000018422	ENST00000335350.6:c.758C>T	10.37:g.73047379C>T	ENSP00000334329:p.Ala253Val					UNC5B_ENST00000373192.4_Missense_Mutation_p.A253V	p.A253V	NM_170744.4	NP_734465.2	Q8IZJ1	UNC5B_HUMAN			6	1174	+			253			TSP type-1 1.		Q5T3R9|Q5T3S0|Q86SN3|Q8N1Y2|Q9H9F3	Missense_Mutation	SNP	ENST00000335350.6	37	c.758C>T	CCDS7309.1	.	.	.	.	.	.	.	.	.	.	c	25.3	4.624259	0.87560	.	.	ENSG00000107731	ENST00000335350;ENST00000373192	T;T	0.18810	2.19;2.19	5.16	5.16	0.70880	.	0.174103	0.51477	D	0.000090	T	0.27967	0.0689	L	0.54323	1.7	0.49582	D	0.999801	B;B	0.24675	0.089;0.109	B;B	0.30105	0.068;0.111	T	0.08411	-1.0723	10	0.87932	D	0	-6.4985	18.7239	0.91705	0.0:1.0:0.0:0.0	.	253;253	Q8IZJ1-2;Q8IZJ1	.;UNC5B_HUMAN	V	253	ENSP00000334329:A253V;ENSP00000362288:A253V	ENSP00000334329:A253V	A	+	2	0	UNC5B	72717385	1.000000	0.71417	0.995000	0.50966	0.988000	0.76386	6.084000	0.71335	2.433000	0.82419	0.537000	0.68136	GCA		0.667	UNC5B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048541.1	NM_170744		42	68	0	0	0	0.013114	0	42	68					T	73047379	C	T	73047379	3	4	199	1	0	0	0	0	1	0	0	0	16989	710	25	3	780	3	UNC5B	10	73047379	Missense_Mutation	SNP	C	TCGA-HC-7080-01A-11D-1961-08	44224434	73047379	62487368	23	9211											
PPRC1	23082	broad.mit.edu	37	chr10	103906651	103906651	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggaccatgactattgtgtccGgagcaggacccccccaaaaa	12	6	10	13	1	0	1	0	1	0	0	1	4	1	4	5	3	1	1	5	3	3	2			TCGA-HC-7080-01A-11D-1961-08	TCGA-HC-7080-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3bbac3a7-c057-4b25-acbe-f195ef6045ff	93783be5-df68-4487-ac57-940bf725cbbd	g.chr10:103906651G>A	ENST00000278070.2	+	9	3941	c.3902G>A	c.(3901-3903)cGg>cAg	p.R1301Q	PPRC1_ENST00000413464.2_Intron|PPRC1_ENST00000489648.1_Intron|PPRC1_ENST00000370012.1_Missense_Mutation_p.R268Q	NM_015062.3	NP_055877.3	Q5VV67	PPRC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator-related 1	1301					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(10)|lung(19)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Colorectal(252;0.122)		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)		TATTGTGTCCGGAGCAGGACC	0.572																																						ENST00000278070.2																			0				central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(10)|lung(19)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56						c.(3901-3903)cGg>cAg		peroxisome proliferator-activated receptor gamma, coactivator-related 1							77	72	74					10																	103906651		2203	4300	6503	SO:0001583	missense	23082				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleotide binding|RNA binding	g.chr10:103906651G>A	AF325193	CCDS7529.1, CCDS73186.1	10q24.32	2013-02-12	2006-10-17		ENSG00000148840	ENSG00000148840		"RNA binding motif (RRM) containing"	30025	protein-coding gene	gene with protein product			"peroxisome proliferative activated receptor, gamma, coactivator-related 1"			9628581, 11340167	Standard	XM_005269656		Approved	PRC, KIAA0595, MGC74642	uc001kum.3	Q5VV67	OTTHUMG00000018948	ENST00000278070.2:c.3902G>A	10.37:g.103906651G>A	ENSP00000278070:p.Arg1301Gln					PPRC1_ENST00000370012.1_Missense_Mutation_p.R268Q|PPRC1_ENST00000413464.2_Intron|PPRC1_ENST00000489648.1_Intron	p.R1301Q	NM_015062.3	NP_055877.3	Q5VV67	PPRC1_HUMAN		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)	9	3941	+		Colorectal(252;0.122)	1301					Q5VV66|Q6P3U5|Q6P3W1|Q76N31|Q9BUJ3|Q9BZE5|Q9Y4E0	Missense_Mutation	SNP	ENST00000278070.2	37	c.3902G>A	CCDS7529.1	.	.	.	.	.	.	.	.	.	.	G	15.59	2.878940	0.51801	.	.	ENSG00000148840	ENST00000278070;ENST00000370012	T;T	0.30448	1.91;1.53	5.46	4.49	0.54785	.	0.384123	0.24325	N	0.039507	T	0.37265	0.0997	L	0.44542	1.39	0.80722	D	1	D;D	0.76494	0.999;0.998	P;P	0.60117	0.869;0.743	T	0.03221	-1.1059	10	0.28530	T	0.3	.	7.5985	0.28063	0.0:0.1246:0.4898:0.3856	.	1181;1301	Q5VV67-2;Q5VV67	.;PPRC1_HUMAN	Q	1301;268	ENSP00000278070:R1301Q;ENSP00000359029:R268Q	ENSP00000278070:R1301Q	R	+	2	0	PPRC1	103896641	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	1.308000	0.33528	2.562000	0.86427	0.462000	0.41574	CGG		0.572	PPRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050021.1	NM_015062		37	31	0	0	0	0.005524	0	37	31					A	103906651	G	A	103906651	3	1	199	1	0	0	0	0	1	0	0	0	12410	1116	39	2	3936	2	PPRC1	10	103906651	Missense_Mutation	SNP	G	TCGA-HC-7080-01A-11D-1961-08	30859272	103906651	31628096	24	9212											
HTRA1	5654	broad.mit.edu	37	chr10	124271537	124271537	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacttcccagacgtgatctcAggagcgtatataattgaagt	12	11	10	8	2	1	3	1	2	1	1	3	5	2	4	1	1	1	1	1	1	4	5			TCGA-HC-7080-01A-11D-1961-08	TCGA-HC-7080-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3bbac3a7-c057-4b25-acbe-f195ef6045ff	93783be5-df68-4487-ac57-940bf725cbbd	g.chr10:124271537A>G	ENST00000368984.3	+	8	1358	c.1230A>G	c.(1228-1230)tcA>tcG	p.S410S		NM_002775.4	NP_002766.1	Q92743	HTRA1_HUMAN	HtrA serine peptidase 1	410	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|proteolysis (GO:0006508)|regulation of cell growth (GO:0001558)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			endometrium(1)|kidney(1)|large_intestine(8)|lung(7)	17		all_neural(114;0.0765)|Lung NSC(174;0.133)|all_lung(145;0.163)|Breast(234;0.238)				ACGTGATCTCAGGAGCGTATA	0.493																																						ENST00000368984.3																			0				endometrium(1)|kidney(1)|large_intestine(8)|lung(7)	17						c.(1228-1230)tcA>tcG		HtrA serine peptidase 1							93	94	94					10																	124271537		2203	4300	6503	SO:0001819	synonymous_variant	5654				proteolysis|regulation of cell growth	extracellular space	insulin-like growth factor binding|serine-type endopeptidase activity	g.chr10:124271537A>G	AF097709	CCDS7630.1	10q26.3	2014-01-28	2005-08-18	2005-08-18	ENSG00000166033	ENSG00000166033		"Serine peptidases / Serine peptidases"	9476	protein-coding gene	gene with protein product		602194	"protease, serine, 11 (IGF binding)"	PRSS11		8977104	Standard	NM_002775		Approved	HtrA, IGFBP5-protease, ARMD7	uc001lgj.2	Q92743	OTTHUMG00000019186	ENST00000368984.3:c.1230A>G	10.37:g.124271537A>G							p.S410S	NM_002775.4	NP_002766.1	Q92743	HTRA1_HUMAN			8	1358	+		all_neural(114;0.0765)|Lung NSC(174;0.133)|all_lung(145;0.163)|Breast(234;0.238)	410			PDZ.		D3DRE4|Q9UNS5	Silent	SNP	ENST00000368984.3	37	c.1230A>G	CCDS7630.1																																																																																				0.493	HTRA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128327.1	NM_002775		3	88	0	0	0	0.004672	0	3	88					G	124271537	A	G	124271537	2	3	199	1	0	0	0	0	0	0	0	1	7453	175	7	4		4	HTRA1	10	124271537	Silent	SNP	A	TCGA-HC-7080-01A-11D-1961-08	20364886	124271537	11263210	25	9213											
PHLDB1	23187	broad.mit.edu	37	chr11	118516357	118516357	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aactcggcctgctcccctgaCaacatgtccaggtacacccg	9	7	8	17	2	0	1	0	1	0	0	3	1	2	1	5	2	4	2	5	2	3	1			TCGA-HC-7080-01A-11D-1961-08	TCGA-HC-7080-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3bbac3a7-c057-4b25-acbe-f195ef6045ff	93783be5-df68-4487-ac57-940bf725cbbd	g.chr11:118516357C>T	ENST00000361417.2	+	17	3816	c.3405C>T	c.(3403-3405)gaC>gaT	p.D1135D	PHLDB1_ENST00000534672.1_3'UTR|PHLDB1_ENST00000527898.1_Silent_p.D186D|PHLDB1_ENST00000524713.1_Silent_p.D278D|PHLDB1_ENST00000356063.5_Silent_p.D1088D	NM_015157.3	NP_055972.1	Q86UU1	PHLB1_HUMAN	pleckstrin homology-like domain, family B, member 1	1135										breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(10)|liver(3)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(1)	46	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)		GCTCCCCTGACAACATGTCCA	0.642																																						ENST00000361417.2																			0				breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(10)|liver(3)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(1)	46						c.(3403-3405)gaC>gaT		pleckstrin homology-like domain, family B, member 1							82	78	79					11																	118516357		2200	4295	6495	SO:0001819	synonymous_variant	23187							g.chr11:118516357C>T		CCDS8401.1, CCDS44750.1	11q23.3	2013-01-10			ENSG00000019144	ENSG00000019144		"Pleckstrin homology (PH) domain containing"	23697	protein-coding gene	gene with protein product		612834				14532993	Standard	NM_015157		Approved	FLJ00141, LL5a, KIAA0638	uc001pts.3	Q86UU1	OTTHUMG00000166341	ENST00000361417.2:c.3405C>T	11.37:g.118516357C>T						PHLDB1_ENST00000356063.5_Silent_p.D1088D|PHLDB1_ENST00000524713.1_Silent_p.D278D|PHLDB1_ENST00000534672.1_3'UTR|PHLDB1_ENST00000527898.1_Silent_p.D186D	p.D1135D	NM_015157.3	NP_055972.1	Q86UU1	PHLB1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)	17	3816	+	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)|all_neural(223;0.224)	1135					B0YJ63|B0YJ64|O75133|Q4KMF8|Q8TEQ2	Silent	SNP	ENST00000361417.2	37	c.3405C>T	CCDS8401.1																																																																																				0.642	PHLDB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389279.1	NM_015157		34	54	0	0	0	0.012213	0	34	54					T	118516357	C	T	118516357	2	4	199	1	0	0	0	0	0	0	0	1	11851	477	17	3		3	PHLDB1	11	118516357	Silent	SNP	C	TCGA-HC-7080-01A-11D-1961-08		118516357	16490159	26	9214											
BIVM	54841	broad.mit.edu	37	chr13	103492069	103492069	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaaatctgagagtgaagacAatatttccaagaagcagcat	17	8	8	8	0	1	4	0	2	1	3	2	5	2	4	2	0	2	2	2	0	6	2			TCGA-HC-7080-01A-11D-1961-08	TCGA-HC-7080-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3bbac3a7-c057-4b25-acbe-f195ef6045ff	93783be5-df68-4487-ac57-940bf725cbbd	g.chr13:103492069A>C	ENST00000257336.1	+	11	2045	c.1366A>C	c.(1366-1368)Aat>Cat	p.N456H	BIVM_ENST00000419638.1_3'UTR|BIVM_ENST00000448849.2_Missense_Mutation_p.N234H|BIVM-ERCC5_ENST00000602836.1_Missense_Mutation_p.Q427P	NM_017693.3	NP_060163.2	Q86UB2	BIVM_HUMAN	basic, immunoglobulin-like variable motif containing	456						cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleus (GO:0005634)				endometrium(3)|kidney(2)|large_intestine(7)|lung(10)|skin(2)|urinary_tract(1)	25	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					GAGTGAAGACAATATTTCCAA	0.458																																						ENST00000602836.1																			0											c.(1279-1281)cAa>cCa									114	109	111					13																	103492069		2203	4300	6503	SO:0001583	missense	0				nucleotide-excision repair	nucleus	endonuclease activity|single-stranded DNA binding	g.chr13:103492069A>C	AF411385	CCDS9505.1, CCDS53879.1	13q33.1	2008-05-14			ENSG00000134897	ENSG00000134897			16034	protein-coding gene	gene with protein product						12036287	Standard	NM_017693		Approved	FLJ20159		Q86UB2	OTTHUMG00000017309	ENST00000257336.1:c.1366A>C	13.37:g.103492069A>C	ENSP00000257336:p.Asn456His					BIVM_ENST00000257336.1_Missense_Mutation_p.N456H|BIVM_ENST00000448849.2_Missense_Mutation_p.N234H|BIVM_ENST00000419638.1_3'UTR	p.Q427P	NM_001204425.1	NP_001191354.1	Q59FZ7	Q59FZ7_HUMAN			9	1280	+			0					Q2M1J2|Q9NXM4	Missense_Mutation	SNP	ENST00000257336.1	37	c.1280A>C	CCDS9505.1	.	.	.	.	.	.	.	.	.	.	A	20.4	3.989833	0.74589	.	.	ENSG00000134897;ENSG00000134897;ENSG00000134899	ENST00000257336;ENST00000448849;ENST00000418659	.	.	.	5.4	5.4	0.78164	.	0.533626	0.19756	N	0.106787	T	0.59851	0.2224	L	0.36672	1.1	0.34907	D	0.747104	D;D;P	0.61080	0.989;0.976;0.547	P;P;B	0.58172	0.834;0.72;0.24	T	0.71431	-0.4595	9	0.72032	D	0.01	-6.1559	15.4412	0.75184	1.0:0.0:0.0:0.0	.	234;427;456	Q86UB2-2;Q59FZ7;Q86UB2	.;.;BIVM_HUMAN	H	456;234;427	.	ENSP00000257336:N456H	N	+	1	0	ERCC5;BIVM	102290070	1.000000	0.71417	0.983000	0.44433	0.996000	0.88848	4.369000	0.59511	2.034000	0.60081	0.460000	0.39030	AAT		0.458	BIVM-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045704.2			3	132	0	0	0	0.000602	0	3	132					C	103492069	A	C	103492069	3	2	199	1	0	0	0	0	1	0	0	0	1441	130	5	5	1421	5	BIVM	13	103492069	Missense_Mutation	SNP	A	TCGA-HC-7080-01A-11D-1961-08		103492069	11677809	27	9215											
MCF2L	23263	broad.mit.edu	37	chr13	113732744	113732744	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cggagagggccctaccggagGgccaaggtgaggcttgccca	8	4	17	12	2	0	2	0	1	0	1	0	4	0	3	4	6	2	1	4	6	2	2			TCGA-HC-7080-01A-11D-1961-08	TCGA-HC-7080-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3bbac3a7-c057-4b25-acbe-f195ef6045ff	93783be5-df68-4487-ac57-940bf725cbbd	g.chr13:113732744G>A	ENST00000375608.3	+	15	1876	c.1818G>A	c.(1816-1818)agG>agA	p.R606R	MCF2L_ENST00000375597.4_Silent_p.R574R|MCF2L_ENST00000434480.2_Silent_p.R582R|MCF2L_ENST00000421756.1_Silent_p.R580R|MCF2L_ENST00000397030.1_Silent_p.R609R|MCF2L_ENST00000375604.2_Silent_p.R633R|MCF2L_ENST00000442652.2_Silent_p.R606R|MCF2L_ENST00000423482.2_Silent_p.R574R|MCF2L_ENST00000375601.3_Silent_p.R580R|MCF2L_ENST00000535094.2_Silent_p.R576R			O15068	MCF2L_HUMAN	MCF.2 cell line derived transforming sequence-like	606					apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|extracellular space (GO:0005615)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)	1-phosphatidylinositol binding (GO:0005545)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			kidney(1)|large_intestine(5)|ovary(1)|stomach(1)	8	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0368)|all_epithelial(44;0.0396)|Lung NSC(25;0.129)|Breast(118;0.188)				CCTACCGGAGGGCCAAGGTGA	0.682																																						ENST00000397030.1																			0				kidney(1)|large_intestine(5)|ovary(1)|stomach(1)	8						c.(1825-1827)agG>agA		MCF.2 cell line derived transforming sequence-like							35	38	37					13																	113732744		2200	4299	6499	SO:0001819	synonymous_variant	23263				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	Rho guanyl-nucleotide exchange factor activity	g.chr13:113732744G>A	AB002360	CCDS9527.2, CCDS45070.1, CCDS9527.3, CCDS45070.2	13q34	2013-01-10			ENSG00000126217	ENSG00000126217		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	14576	protein-coding gene	gene with protein product		609499				9205841	Standard	NM_001112732		Approved	KIAA0362, DBS, OST, ARHGEF14	uc010tjr.2	O15068	OTTHUMG00000017377	ENST00000375608.3:c.1818G>A	13.37:g.113732744G>A						MCF2L_ENST00000535094.2_Silent_p.R576R|MCF2L_ENST00000434480.2_Silent_p.R582R|MCF2L_ENST00000375597.4_Silent_p.R574R|MCF2L_ENST00000375604.2_Silent_p.R633R|MCF2L_ENST00000375601.3_Silent_p.R580R|MCF2L_ENST00000375608.3_Silent_p.R606R|MCF2L_ENST00000421756.1_Silent_p.R580R|MCF2L_ENST00000442652.2_Silent_p.R606R|MCF2L_ENST00000423482.2_Silent_p.R574R	p.R609R			O15068	MCF2L_HUMAN			14	1864	+	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0368)|all_epithelial(44;0.0396)|Lung NSC(25;0.129)|Breast(118;0.188)	606					A2A2X1|A2A2X2|A2A3G6|A2A3G8|B4DHD6|B4DIL6|E9PDN8|Q5JU56|Q5VXT1|Q6ZWD4|Q765G8|Q765G9|Q8N679	Silent	SNP	ENST00000375608.3	37	c.1827G>A		.	.	.	.	.	.	.	.	.	.	G	6.446	0.450364	0.12223	.	.	ENSG00000126217	ENST00000397017	.	.	.	4.06	-2.3	0.06785	.	.	.	.	.	T	0.53722	0.1814	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.48768	-0.9006	4	.	.	.	.	9.1139	0.36746	0.5148:0.0:0.4852:0.0	.	.	.	.	S	237	.	.	G	+	1	0	MCF2L	112780745	0.959000	0.32827	0.959000	0.39883	0.552000	0.35366	-0.266000	0.08631	-0.569000	0.06030	-1.036000	0.02392	GGC		0.682	MCF2L-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000045849.4			11	20	0	0	0	0.010729	0	11	20					A	113732744	G	A	113732744	2	1	199	1	0	0	0	0	0	0	0	1	9379	1223	43	3		3	MCF2L	13	113732744	Silent	SNP	G	TCGA-HC-7080-01A-11D-1961-08	10240675	113732744	1437134	28	9216											
AHNAK2	113146	broad.mit.edu	37	chr14	105421875	105421875	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tccttcagcacttgcttgacGaagatcccctggtccccacc	7	10	7	17	1	1	2	1	1	0	1	4	3	4	2	6	1	2	2	6	1	1	3			TCGA-HC-7080-01A-11D-1961-08	TCGA-HC-7080-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3bbac3a7-c057-4b25-acbe-f195ef6045ff	93783be5-df68-4487-ac57-940bf725cbbd	g.chr14:105421875G>A	ENST00000333244.5	-	5	530	c.411C>T	c.(409-411)ttC>ttT	p.F137F	AHNAK2_ENST00000557457.1_5'Flank	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	137	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.					costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			CTTGCTTGACGAAGATCCCCT	0.582																																						ENST00000333244.5																			0				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33						c.(409-411)ttC>ttT		AHNAK nucleoprotein 2							88	97	94					14																	105421875		2107	4226	6333	SO:0001819	synonymous_variant	113146					nucleus		g.chr14:105421875G>A	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"chromosome 14 open reading frame 78"	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.411C>T	14.37:g.105421875G>A							p.F137F	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)		5	530	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	137			PDZ.		Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Silent	SNP	ENST00000333244.5	37	c.411C>T	CCDS45177.1																																																																																				0.582	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		26	73	0	0	0	0.004656	0	26	73					A	105421875	G	A	105421875	2	1	199	1	0	0	0	0	0	0	0	1	415	1049	37	2		2	AHNAK2	14	105421875	Silent	SNP	G	TCGA-HC-7080-01A-11D-1961-08		105421875	1927665	29	9217											
CLEC16A	23274	broad.mit.edu	37	chr16	11076736	11076738	+	Splice_Site	DEL	TCT	TCT	-																															tttcttttttttccgccaggTcttcttaattatacatcatg																										TCGA-HC-7080-01A-11D-1961-08	TCGA-HC-7080-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3bbac3a7-c057-4b25-acbe-f195ef6045ff	93783be5-df68-4487-ac57-940bf725cbbd	g.chr16:11076736_11076738delTCT	ENST00000409790.1	+	10	1189_1191	c.959_961delTCT	c.(958-963)gtcttc>gtc	p.F321del	CLEC16A_ENST00000409552.3_Splice_Site_p.F319del	NM_015226.2	NP_056041.1			C-type lectin domain family 16, member A											breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						TTCCGCCAGGTCTTCTTAATTAT	0.448																																						ENST00000409790.1																			0				breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						c.e10-1		C-type lectin domain family 16, member A																																				SO:0001630	splice_region_variant	23274							g.chr16:11076736_11076738delTCT	AB002348	CCDS45409.1, CCDS58423.1	16p13.13	2010-04-27	2007-07-17	2007-07-17	ENSG00000038532	ENSG00000038532		"C-type lectin domain containing"	29013	protein-coding gene	gene with protein product		611303	"KIAA0350"	KIAA0350		9205841, 17632545	Standard	NM_015226		Approved	Gop-1	uc002dao.3	Q2KHT3	OTTHUMG00000152915	ENST00000409790.1:c.958-1TCT>-	16.37:g.11076739_11076741delTCT						CLEC16A_ENST00000409552.3_Splice_Site_p.VF318_splice	p.VF320_splice	NM_015226.2	NP_056041.1	Q2KHT3	CL16A_HUMAN			10	1189_1191	+			320						Splice_Site	DEL	ENST00000409790.1	37	c.957_splice	CCDS45409.1																																																																																				0.448	CLEC16A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328540.2	NM_015226	In_Frame_Del	18	36						18	36	---	---	---	---	-	11076738	TCT	-	11076736	8	5	199	1	0	1	0	1	0	0	1	0	3500	1681	58	0	993	0	CLEC16A	16	11076736	Splice_Site	DEL	TCT	TCGA-HC-7080-01A-11D-1961-08		11076736	79278017	30	9218											
SYT17	51760	broad.mit.edu	37	chr16	19195180	19195180	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catctcccacgatggctcgcGccaggacatggcgcactcca	8	6	10	17	4	1	0	0	0	1	0	4	2	2	1	3	3	0	2	3	3	0	0			TCGA-HC-7080-01A-11D-1961-08	TCGA-HC-7080-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3bbac3a7-c057-4b25-acbe-f195ef6045ff	93783be5-df68-4487-ac57-940bf725cbbd	g.chr16:19195180G>A	ENST00000355377.2	+	5	1060	c.662G>A	c.(661-663)cGc>cAc	p.R221H	SYT17_ENST00000562034.1_Missense_Mutation_p.R160H|SYT17_ENST00000568115.1_Missense_Mutation_p.R160H|SYT17_ENST00000562711.2_Missense_Mutation_p.R217H	NM_016524.2	NP_057608.2	Q9BSW7	SYT17_HUMAN	synaptotagmin XVII	221	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.				exocytosis (GO:0006887)	membrane (GO:0016020)|synaptic vesicle (GO:0008021)|trans-Golgi network (GO:0005802)	transporter activity (GO:0005215)			NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)	17						GATGGCTCGCGCCAGGACATG	0.612																																						ENST00000562034.1																			0				NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)	17						c.(478-480)cGc>cAc		synaptotagmin XVII							125	117	120					16																	19195180		2197	4300	6497	SO:0001583	missense	51760					membrane|synaptic vesicle	transporter activity	g.chr16:19195180G>A		CCDS10575.1	16p12.3	2013-01-21			ENSG00000103528	ENSG00000103528		"Synaptotagmins"	24119	protein-coding gene	gene with protein product	"B/K protein"					10493829	Standard	NM_016524		Approved		uc002dfw.3	Q9BSW7	OTTHUMG00000131461	ENST00000355377.2:c.662G>A	16.37:g.19195180G>A	ENSP00000347538:p.Arg221His					SYT17_ENST00000568115.1_Missense_Mutation_p.R160H|SYT17_ENST00000562711.2_Missense_Mutation_p.R217H|SYT17_ENST00000355377.2_Missense_Mutation_p.R221H	p.R160H			Q9BSW7	SYT17_HUMAN			3	4277	+			221					O43330|Q9NZ18	Missense_Mutation	SNP	ENST00000355377.2	37	c.479G>A	CCDS10575.1	.	.	.	.	.	.	.	.	.	.	g	25.4	4.635711	0.87760	.	.	ENSG00000103528	ENST00000355377	T	0.19669	2.13	5.52	5.52	0.82312	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.64402	D	0.000010	T	0.47948	0.1473	M	0.72479	2.2	0.80722	D	1	D;D	0.71674	0.994;0.998	D;D	0.69479	0.964;0.964	T	0.46190	-0.9209	10	0.72032	D	0.01	.	19.4403	0.94817	0.0:0.0:1.0:0.0	.	221;160	Q9BSW7;B4DJB2	SYT17_HUMAN;.	H	221	ENSP00000347538:R221H	ENSP00000347538:R221H	R	+	2	0	SYT17	19102681	0.997000	0.39634	0.998000	0.56505	0.257000	0.26127	5.043000	0.64208	2.592000	0.87571	0.457000	0.33378	CGC		0.612	SYT17-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254286.2	NM_016524		7	221	0	0	0	0.00308	0	7	221					A	19195180	G	A	19195180	3	1	199	1	0	0	0	0	1	0	0	0	15470	1087	38	1	680	1	SYT17	16	19195180	Missense_Mutation	SNP	G	TCGA-HC-7080-01A-11D-1961-08	8118444	19195180	71159573	31	9219											
IRX6	79190	broad.mit.edu	37	chr16	55363122	55363122	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ctgcatacccaaagcctttgGaaaccccaagtttgccctgc	10	9	7	15	0	0	0	0	0	0	0	0	1	0	1	5	1	6	2	5	1	4	3			TCGA-HC-7080-01A-11D-1961-08	TCGA-HC-7080-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3bbac3a7-c057-4b25-acbe-f195ef6045ff	93783be5-df68-4487-ac57-940bf725cbbd	g.chr16:55363122G>T	ENST00000290552.7	+	5	2564	c.1232G>T	c.(1231-1233)gGa>gTa	p.G411V	RP11-26L20.3_ENST00000558730.2_RNA	NM_024335.2	NP_077311.2	P78412	IRX6_HUMAN	iroquois homeobox 6	411					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			breast(2)|central_nervous_system(5)|endometrium(3)|kidney(2)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	33						AAAGCCTTTGGAAACCCCAAG	0.622																																						ENST00000290552.7																			0				breast(2)|central_nervous_system(5)|endometrium(3)|kidney(2)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	33						c.(1231-1233)gGa>gTa		iroquois homeobox 6							60	66	64					16																	55363122		2198	4300	6498	SO:0001583	missense	79190					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr16:55363122G>T	AF319966	CCDS32449.1	16q12.2	2011-06-20	2007-07-13	2003-01-10		ENSG00000159387		"Homeoboxes / TALE class"	14675	protein-coding gene	gene with protein product		606196	"iroquois homeobox protein 7", "iroquois homeobox protein 6"	IRX7			Standard	NM_024335		Approved	IRX-3	uc002ehy.3	P78412		ENST00000290552.7:c.1232G>T	16.37:g.55363122G>T	ENSP00000290552:p.Gly411Val					RP11-26L20.3_ENST00000558730.2_RNA	p.G411V	NM_024335.2	NP_077311.2	P78412	IRX6_HUMAN			5	2564	+			411					B2RN06|Q7Z2K0	Missense_Mutation	SNP	ENST00000290552.7	37	c.1232G>T	CCDS32449.1	.	.	.	.	.	.	.	.	.	.	G	11.57	1.677370	0.29783	.	.	ENSG00000159387	ENST00000290552	D	0.89939	-2.59	5.24	4.28	0.50868	.	0.922395	0.09263	N	0.826249	T	0.80093	0.4560	N	0.17082	0.46	0.52501	D	0.999952	B	0.10296	0.003	B	0.12156	0.007	T	0.70590	-0.4830	10	0.38643	T	0.18	-6.879	6.7949	0.23719	0.0893:0.0:0.7332:0.1774	.	411	P78412	IRX6_HUMAN	V	411	ENSP00000290552:G411V	ENSP00000290552:G411V	G	+	2	0	IRX6	53920623	0.974000	0.33945	0.995000	0.50966	0.483000	0.33249	2.940000	0.49003	1.176000	0.42840	0.561000	0.74099	GGA		0.622	IRX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417445.4	NM_024335		49	80	1	0	6.03219e-31	0.01441	2.49107e-30	49	80					T	55363122	G	T	55363122	3	4	199	1	0	0	0	0	1	0	0	0	7848	1174	41	5	1250	5	IRX6	16	55363122	Missense_Mutation	SNP	G	TCGA-HC-7080-01A-11D-1961-08	36167942	55363122	34991631	32	9220											
GALNS	2588	broad.mit.edu	37	chr16	88904133	88904133	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tccaaaccactcatcaaatcCgtgcttcagggggtggaact	11	9	9	12	1	3	0	3	0	0	0	5	1	5	1	3	3	3	1	3	3	3	1	rs398123438		TCGA-HC-7080-01A-11D-1961-08	TCGA-HC-7080-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3bbac3a7-c057-4b25-acbe-f195ef6045ff	93783be5-df68-4487-ac57-940bf725cbbd	g.chr16:88904133C>T	ENST00000268695.5	-	5	551	c.463G>A	c.(463-465)Gga>Aga	p.G155R	GALNS_ENST00000542788.1_Missense_Mutation_p.G80R|GALNS_ENST00000565364.1_5'Flank	NM_000512.4	NP_000503.1	P34059	GALNS_HUMAN	galactosamine (N-acetyl)-6-sulfatase	155	Catalytic domain.		G -> E (in MPS4A). {ECO:0000269|PubMed:16287098}.|G -> R (in MPS4A; severe form). {ECO:0000269|PubMed:24726177}.		carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)	metal ion binding (GO:0046872)|N-acetylgalactosamine-4-sulfatase activity (GO:0003943)|N-acetylgalactosamine-6-sulfatase activity (GO:0043890)|sulfuric ester hydrolase activity (GO:0008484)			breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(8)	22				BRCA - Breast invasive adenocarcinoma(80;0.0496)		TCATCAAATCCGTGCTTCAGG	0.572																																					GBM(129;1929 2344 25209 33204)	ENST00000268695.5																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(8)	22	GRCh37	CM970584	GALNS	M		c.(463-465)Gga>Aga		galactosamine (N-acetyl)-6-sulfate sulfatase	Hyaluronidase(DB00070)						102	93	96					16																	88904133		2198	4300	6498	SO:0001583	missense	2588					lysosome	metal ion binding|N-acetylgalactosamine-4-sulfatase activity|N-acetylgalactosamine-6-sulfatase activity	g.chr16:88904133C>T	D17629	CCDS10970.1	16q24.3	2014-07-03	2014-07-03		ENSG00000141012	ENSG00000141012	3.1.6.4	"Arylsulfatase family"	4122	protein-coding gene	gene with protein product	"Morquio syndrome", "mucopolysaccharidosis type IVA"	612222	"galactosamine (N-acetyl)-6-sulfate sulfatase"			1755850	Standard	NM_000512		Approved	GAS, GALNAC6S	uc002fly.4	P34059	OTTHUMG00000137862	ENST00000268695.5:c.463G>A	16.37:g.88904133C>T	ENSP00000268695:p.Gly155Arg					GALNS_ENST00000542788.1_Missense_Mutation_p.G80R	p.G155R	NM_000512.4	NP_000503.1	P34059	GALNS_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0496)	5	551	-			155		G -> E (in MPS4A).|G -> R (in MPS4A; severe form).			Q86VK3	Missense_Mutation	SNP	ENST00000268695.5	37	c.463G>A	CCDS10970.1	.	.	.	.	.	.	.	.	.	.	c	26.5	4.744701	0.89663	.	.	ENSG00000141012	ENST00000268695;ENST00000542788	D;D	0.99732	-6.57;-6.57	5.18	5.18	0.71444	Alkaline phosphatase-like, alpha/beta/alpha (1);Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.000000	0.85682	D	0.000000	D	0.99878	0.9942	H	0.99286	4.5	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.96179	0.9129	10	0.87932	D	0	.	18.6864	0.91565	0.0:1.0:0.0:0.0	.	155;155	B2R6P1;P34059	.;GALNS_HUMAN	R	155;80	ENSP00000268695:G155R;ENSP00000438197:G80R	ENSP00000268695:G155R	G	-	1	0	GALNS	87431634	1.000000	0.71417	0.994000	0.49952	0.831000	0.47069	7.403000	0.79983	2.415000	0.81967	0.651000	0.88453	GGA		0.572	GALNS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269543.1			49	64	0	0	0	0.01441	0	49	64					T	88904133	C	T	88904133	3	4	199	1	0	0	0	0	1	0	0	0	6206	661	23	2	1145	2	GALNS	16	88904133	Missense_Mutation	SNP	C	TCGA-HC-7080-01A-11D-1961-08	33541011	88904133	1450620	33	9221											
KRT14	3861	broad.mit.edu	37	chr17	39742796	39742796	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagccaccaccaaagccaccAcccaagccagcaccaaggcc	15	0	6	20	0	0	0	0	0	0	0	0	0	0	0	9	1	4	1	9	1	4	0			TCGA-HC-7080-01A-11D-1961-08	TCGA-HC-7080-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3bbac3a7-c057-4b25-acbe-f195ef6045ff	93783be5-df68-4487-ac57-940bf725cbbd	g.chr17:39742796A>C	ENST00000167586.6	-	1	377	c.291T>G	c.(289-291)ggT>ggG	p.G97G		NM_000526.4	NP_000517	P02533	K1C14_HUMAN	keratin 14	97	Head.				aging (GO:0007568)|cell junction assembly (GO:0034329)|epidermis development (GO:0008544)|epithelial cell differentiation (GO:0030855)|hair cycle (GO:0042633)|hemidesmosome assembly (GO:0031581)|intermediate filament bundle assembly (GO:0045110)|response to ionizing radiation (GO:0010212)|response to zinc ion (GO:0010043)	cell periphery (GO:0071944)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)|nucleus (GO:0005634)	keratin filament binding (GO:1990254)|structural constituent of cytoskeleton (GO:0005200)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(3)|lung(7)|ovary(1)|prostate(5)|skin(1)|stomach(1)	25		Breast(137;0.000307)				caaagccaccacccaagccag	0.622																																						ENST00000167586.6																			0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(3)|lung(7)|ovary(1)|prostate(5)|skin(1)|stomach(1)	25						c.(289-291)ggT>ggG		keratin 14							134	134	134					17																	39742796		2203	4300	6503	SO:0001819	synonymous_variant	3861				epidermis development|hemidesmosome assembly|intermediate filament bundle assembly	cytosol|keratin filament|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton	g.chr17:39742796A>C	BC002690	CCDS11400.1	17q21.2	2013-06-20	2008-09-19		ENSG00000186847	ENSG00000186847		"-", "Intermediate filaments type I, keratins (acidic)"	6416	protein-coding gene	gene with protein product	"epidermolysis bullosa simplex, Dowling-Meara, Koebner"	148066	"keratin 14 (epidermolysis bullosa simplex, Dowling-Meara, Koebner)"	EBS3, EBS4		1717157, 16831889	Standard	NM_000526		Approved		uc002hxf.2	P02533	OTTHUMG00000133426	ENST00000167586.6:c.291T>G	17.37:g.39742796A>C							p.G97G	NM_000526.4	NP_000517.2	P02533	K1C14_HUMAN			1	377	-		Breast(137;0.000307)	97			Head.		Q14715|Q53XY3|Q9BUE3|Q9UBN2|Q9UBN3|Q9UCY4	Silent	SNP	ENST00000167586.6	37	c.291T>G	CCDS11400.1																																																																																				0.622	KRT14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257289.1	NM_000526		12	58	0	0	0	0.00333	0	12	58					C	39742796	A	C	39742796	2	2	199	1	0	0	0	0	0	0	0	1	8451	146	6	5		5	KRT14	17	39742796	Silent	SNP	A	TCGA-HC-7080-01A-11D-1961-08		39742796	41452414	34	9222											
SPOP	8405	broad.mit.edu	37	chr17	47696431	47696431	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggatgaatttcttgaatcccCagtctttgccttgcacaaac	10	13	7	11	0	2	2	0	2	2	0	3	3	3	3	3	1	3	1	3	1	3	4			TCGA-HC-7080-01A-11D-1961-08	TCGA-HC-7080-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3bbac3a7-c057-4b25-acbe-f195ef6045ff	93783be5-df68-4487-ac57-940bf725cbbd	g.chr17:47696431C>G	ENST00000393328.2	-	6	757	c.392G>C	c.(391-393)tGg>tCg	p.W131S	SPOP_ENST00000503676.1_Missense_Mutation_p.W131S|SPOP_ENST00000513080.1_5'Flank|SPOP_ENST00000504102.1_Missense_Mutation_p.W131S|SPOP_ENST00000393331.3_Missense_Mutation_p.W131S|SPOP_ENST00000347630.2_Missense_Mutation_p.W131S	NM_003563.3	NP_003554.1	O43791	SPOP_HUMAN	speckle-type POZ protein	131	Important for binding substrate proteins.|MATH. {ECO:0000255|PROSITE- ProRule:PRU00129}.|Required for nuclear localization.				glucose homeostasis (GO:0042593)|positive regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902237)|positive regulation of type B pancreatic cell apoptotic process (GO:2000676)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	Cul3-RING ubiquitin ligase complex (GO:0031463)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	ubiquitin protein ligase binding (GO:0031625)			endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						CTTGAATCCCCAGTCTTTGCC	0.453										Prostate(2;0.17)																												ENST00000393331.3																			0				endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						c.(391-393)tGg>tCg		speckle-type POZ protein							121	123	123					17																	47696431		2203	4300	6503	SO:0001583	missense	8405				mRNA processing	nucleus	protein binding	g.chr17:47696431C>G	AJ000644	CCDS11551.1	17q21.33	2013-01-09			ENSG00000121067	ENSG00000121067		"BTB/POZ domain containing"	11254	protein-coding gene	gene with protein product		602650				9414087	Standard	NM_001007227		Approved	TEF2, BTBD32	uc002ipg.3	O43791	OTTHUMG00000161496	ENST00000393328.2:c.392G>C	17.37:g.47696431C>G	ENSP00000377001:p.Trp131Ser	Prostate(2;0.17)				SPOP_ENST00000504102.1_Missense_Mutation_p.W131S|SPOP_ENST00000393328.2_Missense_Mutation_p.W131S|SPOP_ENST00000347630.2_Missense_Mutation_p.W131S|SPOP_ENST00000503676.1_Missense_Mutation_p.W131S	p.W131S	NM_001007226.1|NM_001007227.1	NP_001007227.1|NP_001007228.1	O43791	SPOP_HUMAN			7	862	-			131			MATH.|Required for nuclear localization.		B2R6S3|D3DTW7|Q53HJ1	Missense_Mutation	SNP	ENST00000393328.2	37	c.392G>C	CCDS11551.1	.	.	.	.	.	.	.	.	.	.	C	23.1	4.371067	0.82573	.	.	ENSG00000121067	ENST00000393328;ENST00000393331;ENST00000347630;ENST00000504102;ENST00000503536;ENST00000503676;ENST00000513872;ENST00000509079;ENST00000505581;ENST00000507970;ENST00000514121	T;T;T;T;T;T;T;T;T	0.69306	-0.39;-0.39;-0.39;-0.39;-0.39;-0.39;-0.39;-0.39;-0.39	5.41	5.41	0.78517	TRAF-type (1);TRAF-like (1);MATH (3);	0.000000	0.85682	D	0.000000	D	0.83330	0.5231	M	0.83012	2.62	0.80722	D	1	D	0.76494	0.999	D	0.74348	0.983	D	0.83693	0.0178	10	0.49607	T	0.09	0.1404	18.9712	0.92715	0.0:1.0:0.0:0.0	.	131	O43791	SPOP_HUMAN	S	131;131;131;131;15;131;84;131;131;131;131	ENSP00000377001:W131S;ENSP00000377004:W131S;ENSP00000240327:W131S;ENSP00000425905:W131S;ENSP00000420908:W131S;ENSP00000426986:W131S;ENSP00000420960:W131S;ENSP00000426262:W131S;ENSP00000424119:W131S	ENSP00000240327:W131S	W	-	2	0	SPOP	45051430	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.583000	0.82559	2.802000	0.96397	0.563000	0.77884	TGG		0.453	SPOP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365154.2	NM_003563		77	106	0	0	0	0.01441	0	77	106					G	47696431	C	G	47696431	3	3	199	1	0	0	0	0	1	0	0	0	15083	595	21	5	756	5	SPOP	17	47696431	Missense_Mutation	SNP	C	TCGA-HC-7080-01A-11D-1961-08	7953635	47696431	33498779	35	9223											
U2AF1L4	199746	broad.mit.edu	37	chr19	36234735	36234735	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cctgggtccccgcccatagaGctgcctctggaggttctggg	4	9	14	14	1	2	1	0	0	2	1	3	2	3	2	5	4	2	2	5	4	1	2			TCGA-HC-7080-01A-11D-1961-08	TCGA-HC-7080-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3bbac3a7-c057-4b25-acbe-f195ef6045ff	93783be5-df68-4487-ac57-940bf725cbbd	g.chr19:36234735G>A	ENST00000412391.2	-	7	566	c.553C>T	c.(553-555)Ctc>Ttc	p.L185F	U2AF1L4_ENST00000292879.5_Silent_p.S126S|U2AF1L4_ENST00000378975.3_Missense_Mutation_p.L146F|AD000671.6_ENST00000589807.1_3'UTR|PSENEN_ENST00000587708.2_5'Flank|IGFLR1_ENST00000344990.3_5'Flank|IGFLR1_ENST00000592537.1_5'Flank|AC002398.9_ENST00000591613.2_5'Flank|U2AF1L4_ENST00000588100.1_5'Flank|PSENEN_ENST00000222266.2_5'Flank|IGFLR1_ENST00000246532.1_5'Flank|IGFLR1_ENST00000588992.1_5'Flank|IGFLR1_ENST00000592889.1_5'Flank|PSENEN_ENST00000591949.1_5'Flank			Q8WU68	U2AF4_HUMAN	U2 small nuclear RNA auxiliary factor 1-like 4	185					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	spliceosomal complex (GO:0005681)	metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)	8	all_lung(56;3.33e-07)|Lung NSC(56;5.02e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CGCCCATAGAGCTGCCTCTGG	0.572																																						ENST00000412391.2																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)	8						c.(553-555)Ctc>Ttc		U2 small nuclear RNA auxiliary factor 1-like 4							40	42	41					19																	36234735		2203	4300	6503	SO:0001583	missense	199746				mRNA processing|RNA splicing	nuclear speck|spliceosomal complex	nucleotide binding|RNA binding|zinc ion binding	g.chr19:36234735G>A	BC021186, AY569437	CCDS12473.1, CCDS42551.1	19q13.13	2013-02-12	2006-04-12	2006-04-12		ENSG00000161265		"RNA binding motif (RRM) containing"	23020	protein-coding gene	gene with protein product		601080	"U2(RNU2) small nuclear RNA auxiliary factor 1-like 3", "U2 small nuclear RNA auxiliary factor 1-like 3"	U2AF1L3		8586425, 11739736	Standard	NM_001040425		Approved	MGC33901, U2af26	uc002obf.3	Q8WU68		ENST00000412391.2:c.553C>T	19.37:g.36234735G>A	ENSP00000397645:p.Leu185Phe					AD000671.6_ENST00000589807.1_3'UTR|U2AF1L4_ENST00000292879.5_Silent_p.S126S|U2AF1L4_ENST00000378975.3_Missense_Mutation_p.L146F	p.L185F			Q8WU68	U2AF4_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0515)		7	566	-	all_lung(56;3.33e-07)|Lung NSC(56;5.02e-07)|Esophageal squamous(110;0.162)		185					A6NKI8|Q56UU3	Missense_Mutation	SNP	ENST00000412391.2	37	c.553C>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.50|15.50	2.851877|2.851877	0.51270|0.51270	.|.	.|.	ENSG00000161265|ENSG00000161265	ENST00000392196|ENST00000378975;ENST00000412391	.|.	.|.	.|.	5.43|5.43	3.31|3.31	0.37934|0.37934	.|.	.|.	.|.	.|.	.|.	T|T	0.68458|0.68458	0.3003|0.3003	.|.	.|.	.|.	0.45139|0.45139	D|D	0.998152|0.998152	B|D;D	0.31968|0.71674	0.349|0.998;0.958	B|D;P	0.21917|0.71184	0.037|0.972;0.862	T|T	0.66488|0.66488	-0.5911|-0.5911	7|7	0.48119|0.48119	T|T	0.1|0.1	-12.7009|-12.7009	5.7328|5.7328	0.18049|0.18049	0.1663:0.1612:0.6726:0.0|0.1663:0.1612:0.6726:0.0	.|.	66|185;146	B4E1T9|Q8WU68;Q8WU68-3	.|U2AF4_HUMAN;.	V|F	66|146;185	.|.	ENSP00000376034:A66V|ENSP00000368258:L146F	A|L	-|-	2|1	0|0	U2AF1L4|U2AF1L4	40926575|40926575	1.000000|1.000000	0.71417|0.71417	0.953000|0.953000	0.39169|0.39169	0.006000|0.006000	0.05464|0.05464	1.461000|1.461000	0.35255|0.35255	0.873000|0.873000	0.35799|0.35799	-0.122000|-0.122000	0.15005|0.15005	GCT|CTC		0.572	U2AF1L4-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_144987		7	13	0	0	0	0.006214	0	7	13					A	36234735	G	A	36234735	3	1	199	1	0	0	0	0	1	0	0	0	16819	971	34	3	238	3	U2AF1L4	19	36234735	Missense_Mutation	SNP	G	TCGA-HC-7080-01A-11D-1961-08		36234735	22894248	36	9224											
C19orf55	148137	broad.mit.edu	37	chr19	36255947	36255949	+	In_Frame_Del	DEL	CTC	CTC	-																															ccctgcagcaaagcctccatCtcctcctcctcctccctcag																								rs370252048		TCGA-HC-7080-01A-11D-1961-08	TCGA-HC-7080-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3bbac3a7-c057-4b25-acbe-f195ef6045ff	93783be5-df68-4487-ac57-940bf725cbbd	g.chr19:36255947_36255949delCTC	ENST00000544099.1	+	7	702_704	c.639_641delCTC	c.(637-642)atctcc>atc	p.S218del	C19orf55_ENST00000396908.4_In_Frame_Del_p.S218del			Q2NL68	PRSR3_HUMAN		218	Ser-rich.									cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|prostate(1)	15	all_lung(56;2.87e-07)|Lung NSC(56;4.32e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			AAGCCTCCATCTCCTCCTCCTCC	0.631																																						ENST00000544099.1																			0				cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|prostate(1)	15						c.(637-642)atc>at		chromosome 19 open reading frame 55				30,4128		11,8,2060						2	0.3			153	66,8064		29,8,4028	no	coding	C19orf55	NM_001039887.2		40,16,6088	A1A1,A1R,RR		0.8118,0.7215,0.7812				96,12192				SO:0001651	inframe_deletion	148137							g.chr19:36255947_36255949delCTC																												ENST00000544099.1:c.639_641delCTC	19.37:g.36255956_36255958delCTC	ENSP00000467267:p.Ser218del					C19orf55_ENST00000396908.4_In_Frame_Del_p.IS213del	p.IS213del			Q2NL68	CS055_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0515)		7	702_704	+	all_lung(56;2.87e-07)|Lung NSC(56;4.32e-07)|Esophageal squamous(110;0.162)		213			Ser-rich.		Q8NDI3|Q8WWC8|Q96NL4	In_Frame_Del	DEL	ENST00000544099.1	37	c.639_641delCTC																																																																																					0.631	C19orf55-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000398160.2			7	352						7	352	---	---	---	---	-	36255949	CTC	-	36255947	7	5	199	1	0	1	0	1	0	0	0	0	1937	903	32	0	665	0	C19orf55	19	36255947	In_Frame_Del	DEL	CTC	TCGA-HC-7080-01A-11D-1961-08	21212	36255947	22873036	37	9225											
FAM83E	54854	broad.mit.edu	37	chr19	49107168	49107168	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgtgcgtcactccacgtgaaGctgggggtcggggagtaggg	6	7	19	9	4	1	1	1	1	0	0	3	2	2	2	1	5	2	2	1	5	2	1			TCGA-HC-7080-01A-11D-1961-08	TCGA-HC-7080-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3bbac3a7-c057-4b25-acbe-f195ef6045ff	93783be5-df68-4487-ac57-940bf725cbbd	g.chr19:49107168G>A	ENST00000263266.3	-	4	948	c.759C>T	c.(757-759)agC>agT	p.S253S	SPACA4_ENST00000321762.1_5'Flank	NM_017708.3	NP_060178.2	Q2M2I3	FA83E_HUMAN	family with sequence similarity 83, member E	253										NS(1)|endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(2)	10		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000102)|all cancers(93;0.000117)|GBM - Glioblastoma multiforme(486;0.00627)|Epithelial(262;0.0158)		TCCACGTGAAGCTGGGGGTCG	0.662																																						ENST00000263266.3																			0				NS(1)|endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(2)	10						c.e4-1		family with sequence similarity 83, member E							29	31	30					19																	49107168		2192	4284	6476	SO:0001630	splice_region_variant	54854							g.chr19:49107168G>A	AK000207	CCDS42587.1	19q13.33	2013-10-24			ENSG00000105523	ENSG00000105523			25972	protein-coding gene	gene with protein product							Standard	NM_017708		Approved	FLJ20200	uc002pjn.2	Q2M2I3	OTTHUMG00000183315	ENST00000263266.3:c.759-1C>T	19.37:g.49107168G>A							p.S253_splice	NM_017708.3	NP_060178.2	Q2M2I3	FA83E_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000102)|all cancers(93;0.000117)|GBM - Glioblastoma multiforme(486;0.00627)|Epithelial(262;0.0158)	4	948	-		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)	253					Q9NXK1	Splice_Site	SNP	ENST00000263266.3	37	c.758_splice	CCDS42587.1																																																																																				0.662	FAM83E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466145.1	NM_017708	Silent	27	36	0	0	0	0.00632	0	27	36					A	49107168	G	A	49107168	5	1	199	1	0	0	0	0	0	0	1	0	5637	985	34	3	685	3	FAM83E	19	49107168	Splice_Site	SNP	G	TCGA-HC-7080-01A-11D-1961-08	12851221	49107168	10021815	38	9226											
KLK4	9622	broad.mit.edu	37	chr19	51412631	51412631	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	agtgcgggctgcagtcctcgCcgtttatgatttggctgcag	5	12	14	10	3	0	1	0	1	0	0	2	1	1	1	2	2	3	5	2	2	1	3			TCGA-HC-7080-01A-11D-1961-08	TCGA-HC-7080-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3bbac3a7-c057-4b25-acbe-f195ef6045ff	93783be5-df68-4487-ac57-940bf725cbbd	g.chr19:51412631C>T	ENST00000324041.1	-	2	100	c.101G>A	c.(100-102)gGc>gAc	p.G34D	KLK4_ENST00000597441.1_5'Flank|KLK4_ENST00000431178.2_5'Flank	NM_004917.3	NP_004908.3	Q9Y5K2	KLK4_HUMAN	kallikrein-related peptidase 4	34	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				amelogenesis (GO:0097186)|extracellular matrix disassembly (GO:0022617)|protein catabolic process (GO:0030163)|proteolysis (GO:0006508)	extracellular region (GO:0005576)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(8)	19		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00624)|GBM - Glioblastoma multiforme(134;0.00878)		GCAGTCCTCGCCGTTTATGAT	0.647																																						ENST00000324041.1																			0				autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(8)	19						c.(100-102)gGc>gAc		kallikrein-related peptidase 4							123	136	132					19																	51412631		2203	4300	6503	SO:0001583	missense	9622				proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity	g.chr19:51412631C>T	AF113141	CCDS12809.1	19q13.41	2014-09-04	2006-10-27		ENSG00000167749	ENSG00000167749		"Kallikreins", "Serine peptidases / Serine peptidases"	6365	protein-coding gene	gene with protein product		603767	"kallikrein 4 (prostase, enamel matrix, prostate)"	PRSS17		10077646, 10438493, 16800724, 10863090, 9465170	Standard	XM_005259441		Approved	EMSP, EMSP1, PSTS, KLK-L1	uc002pua.1	Q9Y5K2	OTTHUMG00000182964	ENST00000324041.1:c.101G>A	19.37:g.51412631C>T	ENSP00000326159:p.Gly34Asp						p.G34D	NM_004917.3	NP_004908.3	Q9Y5K2	KLK4_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00624)|GBM - Glioblastoma multiforme(134;0.00878)	2	100	-		all_neural(266;0.026)	34			Peptidase S1.		Q4VB16|Q96RU5|Q9GZL6|Q9UBJ6	Missense_Mutation	SNP	ENST00000324041.1	37	c.101G>A	CCDS12809.1	.	.	.	.	.	.	.	.	.	.	c	19.05	3.751805	0.69533	.	.	ENSG00000167749	ENST00000324041	D	0.96685	-4.09	3.8	3.8	0.43715	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.40302	N	0.001131	D	0.98413	0.9472	M	0.93150	3.385	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.99060	1.0830	10	0.87932	D	0	.	13.5212	0.61569	0.0:1.0:0.0:0.0	.	34	Q9Y5K2	KLK4_HUMAN	D	34	ENSP00000326159:G34D	ENSP00000326159:G34D	G	-	2	0	KLK4	56104443	0.557000	0.26546	0.172000	0.22920	0.030000	0.12068	2.386000	0.44380	2.124000	0.65301	0.561000	0.74099	GGC		0.647	KLK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464449.1	NM_004917		158	180	0	0	0	0.01441	0	158	180					T	51412631	C	T	51412631	3	4	199	1	0	0	0	0	1	0	0	0	8406	739	26	3	679	3	KLK4	19	51412631	Missense_Mutation	SNP	C	TCGA-HC-7080-01A-11D-1961-08	2305463	51412631	7716352	39	9227											
KLK5	25818	broad.mit.edu	37	chr19	51453323	51453323	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tggttgctcccagagggcacGgtgttagaggggtggtcaca	7	9	17	8	1	1	2	1	0	0	2	2	2	2	2	1	6	1	4	1	6	1	2			TCGA-HC-7080-01A-11D-1961-08	TCGA-HC-7080-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3bbac3a7-c057-4b25-acbe-f195ef6045ff	93783be5-df68-4487-ac57-940bf725cbbd	g.chr19:51453323G>A	ENST00000336334.3	-	3	475	c.123C>T	c.(121-123)acC>acT	p.T41T	KLK5_ENST00000593428.1_Silent_p.T41T|CTB-147C22.8_ENST00000601506.1_RNA|CTB-147C22.8_ENST00000594939.1_RNA|KLK5_ENST00000391809.2_Silent_p.T41T	NM_012427.4	NP_036559	Q9Y337	KLK5_HUMAN	kallikrein-related peptidase 5	41				Missing (in Ref. 3; AAG33358). {ECO:0000305}.	epidermis development (GO:0008544)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)	epidermal lamellar body (GO:0097209)|extracellular space (GO:0005615)	peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			NS(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(1)	15		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00379)|GBM - Glioblastoma multiforme(134;0.00888)		CAGAGGGCACGGTGTTAGAGG	0.622																																						ENST00000336334.3																			0				NS(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(1)	15						c.(121-123)acC>acT		kallikrein-related peptidase 5							44	42	43					19																	51453323		2203	4300	6503	SO:0001819	synonymous_variant	25818				epidermis development|positive regulation of G-protein coupled receptor protein signaling pathway|proteolysis	extracellular space	protein binding|serine-type endopeptidase activity	g.chr19:51453323G>A	AF135028	CCDS12810.1	19q13.33	2008-02-05	2006-10-27			ENSG00000167754		"Kallikreins"	6366	protein-coding gene	gene with protein product		605643	"kallikrein 5"			10514489, 10608802, 1680072, 4, 16800723, 17012259	Standard	NM_012427		Approved	SCTE, KLK-L2	uc002puf.3	Q9Y337		ENST00000336334.3:c.123C>T	19.37:g.51453323G>A						KLK5_ENST00000593428.1_Silent_p.T41T|KLK5_ENST00000391809.2_Silent_p.T41T	p.T41T	NM_012427.4	NP_036559.1	Q9Y337	KLK5_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00379)|GBM - Glioblastoma multiforme(134;0.00888)	3	475	-		all_neural(266;0.026)	41	Missing (in Ref. 3; AAG33358).				Q53ZR3|Q9HBG8	Silent	SNP	ENST00000336334.3	37	c.123C>T	CCDS12810.1																																																																																				0.622	KLK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465057.1	NM_012427		17	20	0	0	0	0.010504	0	17	20					A	51453323	G	A	51453323	2	1	199	1	0	0	0	0	0	0	0	1	8407	1103	39	2		2	KLK5	19	51453323	Silent	SNP	G	TCGA-HC-7080-01A-11D-1961-08	40692	51453323	7675660	40	9228											
AHCY	191	broad.mit.edu	37	chr20	32878543	32878543	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgccctatcctaccctccaTggcagcctgcagtgcgttga	6	11	9	15	1	0	1	0	1	0	0	2	1	2	1	5	1	5	3	5	1	2	4			TCGA-HC-7080-01A-11D-1961-08	TCGA-HC-7080-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3bbac3a7-c057-4b25-acbe-f195ef6045ff	93783be5-df68-4487-ac57-940bf725cbbd	g.chr20:32878543T>C	ENST00000217426.2	-	6	837	c.760A>G	c.(760-762)Atg>Gtg	p.M254V	AHCY_ENST00000538132.1_Missense_Mutation_p.M226V|AHCY_ENST00000468908.1_5'Flank	NM_000687.2	NP_000678.1	P23526	SAHH_HUMAN	adenosylhomocysteinase	254					cellular nitrogen compound metabolic process (GO:0034641)|chronic inflammatory response to antigenic stimulus (GO:0002439)|circadian sleep/wake cycle (GO:0042745)|homocysteine biosynthetic process (GO:0071268)|methylation (GO:0032259)|one-carbon metabolic process (GO:0006730)|response to hypoxia (GO:0001666)|response to nutrient (GO:0007584)|S-adenosylhomocysteine catabolic process (GO:0019510)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|neuron projection (GO:0043005)|nucleus (GO:0005634)	adenosylhomocysteinase activity (GO:0004013)|adenyl nucleotide binding (GO:0030554)|NAD binding (GO:0051287)			endometrium(6)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						CTACCCTCCATGGCAGCCTGC	0.632																																						ENST00000538132.1																			0				endometrium(6)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						c.(676-678)Atg>Gtg		adenosylhomocysteinase							124	119	121					20																	32878543		2203	4300	6503	SO:0001583	missense	191				methylation|xenobiotic metabolic process	cytosol|melanosome	adenosylhomocysteinase activity|protein binding	g.chr20:32878543T>C	M61832	CCDS13233.1, CCDS54457.1	20q11.22	2009-06-12	2009-06-12		ENSG00000101444	ENSG00000101444	3.3.1.1		343	protein-coding gene	gene with protein product		180960	"S-adenosylhomocysteine hydrolase"			7079734, 6580258	Standard	NM_001161766		Approved	SAHH	uc002xai.3	P23526	OTTHUMG00000140098	ENST00000217426.2:c.760A>G	20.37:g.32878543T>C	ENSP00000217426:p.Met254Val					AHCY_ENST00000217426.2_Missense_Mutation_p.M254V	p.M226V	NM_001161766.1	NP_001155238.1	P23526	SAHH_HUMAN			6	1062	-			254					A8K307|B3KUN3|E1P5P2|F5H737|Q96A36	Missense_Mutation	SNP	ENST00000217426.2	37	c.676A>G	CCDS13233.1	.	.	.	.	.	.	.	.	.	.	T	13.32	2.202511	0.38905	.	.	ENSG00000101444	ENST00000217426;ENST00000538132	T;T	0.78707	-1.2;-1.2	4.53	4.53	0.55603	S-adenosyl-L-homocysteine hydrolase, NAD binding (1);	0.000000	0.85682	D	0.000000	D	0.86552	0.5960	M	0.91249	3.19	0.80722	D	1	P	0.37141	0.584	P	0.47645	0.553	D	0.88496	0.3079	10	0.52906	T	0.07	.	14.3056	0.66382	0.0:0.0:0.0:1.0	.	254	P23526	SAHH_HUMAN	V	254;226	ENSP00000217426:M254V;ENSP00000442820:M226V	ENSP00000217426:M254V	M	-	1	0	AHCY	32342204	1.000000	0.71417	1.000000	0.80357	0.486000	0.33341	7.710000	0.84655	2.042000	0.60477	0.454000	0.30748	ATG		0.632	AHCY-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078773.2	NM_000687		86	102	0	0	0	0.01441	0	86	102					C	32878543	T	C	32878543	3	2	199	1	0	0	0	0	1	0	0	0	409	1464	51	4	558	4	AHCY	20	32878543	Missense_Mutation	SNP	T	TCGA-HC-7080-01A-11D-1961-08		32878543	30146977	41	9229											
RNF160	26046	broad.mit.edu	37	chr21	30331780	30331780	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tttgagcagtaggctattacCtggcaaatgtgttttttctt	8	18	9	6	0	1	1	0	1	1	0	1	1	1	1	1	2	2	5	1	2	4	8			TCGA-HC-7080-01A-11D-1961-08	TCGA-HC-7080-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3bbac3a7-c057-4b25-acbe-f195ef6045ff	93783be5-df68-4487-ac57-940bf725cbbd	g.chr21:30331780C>A	ENST00000361371.5	-	13	2672	c.2593G>T	c.(2593-2595)Gat>Tat	p.D865Y	LTN1_ENST00000389194.2_Splice_Site_p.D911Y			O94822	LTN1_HUMAN	listerin E3 ubiquitin protein ligase 1	865					protein ubiquitination (GO:0016567)		ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(19)|ovary(5)|pancreas(1)|prostate(2)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)	60						AGGCTATTACCTGGCAAATGT	0.388																																						ENST00000361371.4																			0				NS(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(19)|ovary(5)|pancreas(1)|prostate(2)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)	60						c.e13+1		listerin E3 ubiquitin protein ligase 1							102	106	105					21																	30331780		2203	4300	6503	SO:0001630	splice_region_variant	26046						ligase activity|zinc ion binding	g.chr21:30331780C>A	AK001915	CCDS33527.1, CCDS33527.2	21q21.3	2013-01-09	2010-09-17	2010-09-17	ENSG00000198862	ENSG00000198862		"RING-type (C3HC4) zinc fingers"	13082	protein-coding gene	gene with protein product	"listerin"	613083	"chromosome 21 open reading frame 98", "zinc finger protein 294", "ring finger protein 160"	C21orf98, C21orf10, ZNF294, RNF160		20835226, 19196968	Standard	NM_015565		Approved	KIAA0714, FLJ11053, LISTERIN	uc002ymr.2	O94822	OTTHUMG00000078803	ENST00000361371.5:c.2593+1G>T	21.37:g.30331780C>A						LTN1_ENST00000389194.2_Splice_Site_p.D911_splice	p.D865_splice	NM_015565.2	NP_056380.2	O94822	LTN1_HUMAN			13	2743	-			865					A6NL41|A7E2D0|B2RTS0|C9J7U3|J3KPL4|Q05C47|Q9H8M4|Q9NUY5|Q9P0E9	Splice_Site	SNP	ENST00000361371.5	37	c.2593_splice		.	.	.	.	.	.	.	.	.	.	C	28.8	4.952857	0.92660	.	.	ENSG00000198862	ENST00000389194;ENST00000361371	T;T	0.24538	1.85;1.87	5.55	5.55	0.83447	.	0.109140	0.64402	D	0.000010	T	0.38241	0.1033	L	0.32530	0.975	0.80722	D	1	D	0.65815	0.995	P	0.57244	0.816	T	0.07597	-1.0764	10	0.72032	D	0.01	.	19.6941	0.96016	0.0:1.0:0.0:0.0	.	865	O94822	LTN1_HUMAN	Y	911;865	ENSP00000373846:D911Y;ENSP00000354977:D865Y	ENSP00000354977:D865Y	D	-	1	0	LTN1	29253651	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.985000	0.76193	2.885000	0.99019	0.655000	0.94253	GAT		0.388	LTN1-008	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000472108.1	NM_015565	Missense_Mutation	6	229	1	0	0.00116845	0.001168	0.00441633	6	229					A	30331780	C	A	30331780	5	1	199	1	0	0	0	0	0	0	1	0	13455	695	24	5	2779	5	RNF160	21	30331780	Splice_Site	SNP	C	TCGA-HC-7080-01A-11D-1961-08		30331780	17798115	42	9230											
XRCC6	2547	broad.mit.edu	37	chr22	42024154	42024155	+	Frame_Shift_Ins	INS	-	-	T																															ttcaggaagagatagtttgaINStttttttggttgatgcctcc																										TCGA-HC-7080-01A-11D-1961-08	TCGA-HC-7080-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3bbac3a7-c057-4b25-acbe-f195ef6045ff	93783be5-df68-4487-ac57-940bf725cbbd	g.chr22:42024154_42024155insT	ENST00000359308.4	+	2	770_771	c.115_116insT	c.(115-117)attfs	p.I39fs	XRCC6_ENST00000405506.1_Intron|XRCC6_ENST00000402580.3_Frame_Shift_Ins_p.I39fs|XRCC6_ENST00000360079.3_Frame_Shift_Ins_p.I39fs|XRCC6_ENST00000428575.2_Intron|XRCC6_ENST00000405878.1_Frame_Shift_Ins_p.I39fs			P12956	XRCC6_HUMAN	X-ray repair complementing defective repair in Chinese hamster cells 6	39	Ser-rich (potentially targets for phosphorylation).				brain development (GO:0007420)|cellular hyperosmotic salinity response (GO:0071475)|cellular response to X-ray (GO:0071481)|DNA duplex unwinding (GO:0032508)|DNA ligation (GO:0006266)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|establishment of integrated proviral latency (GO:0075713)|innate immune response (GO:0045087)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|telomere maintenance (GO:0000723)|transcription, DNA-templated (GO:0006351)|V(D)J recombination (GO:0033151)|viral process (GO:0016032)	cytosol (GO:0005829)|Ku70:Ku80 complex (GO:0043564)|membrane (GO:0016020)|nonhomologous end joining complex (GO:0070419)|nuclear telomere cap complex (GO:0000783)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	5'-deoxyribose-5-phosphate lyase activity (GO:0051575)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)|telomeric DNA binding (GO:0042162)|transcription regulatory region DNA binding (GO:0044212)			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	31						AGATAGTTTGATTTTTTTGGTT	0.332								Non-homologous end-joining																														ENST00000359308.4																			0				central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	31						c.(115-117)tttfs	Non-homologous end-joining	X-ray repair complementing defective repair in Chinese hamster cells 6																																				SO:0001589	frameshift_variant	2547				DNA ligation|double-strand break repair via nonhomologous end joining|initiation of viral infection|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|provirus integration|telomere maintenance|transcription, DNA-dependent	DNA-dependent protein kinase-DNA ligase 4 complex|Ku70:Ku80 complex|membrane fraction|nuclear telomere cap complex|transcription factor complex	5'-deoxyribose-5-phosphate lyase activity|ATP binding|ATP-dependent DNA helicase activity|double-stranded DNA binding|protein C-terminus binding|transcription regulatory region DNA binding	g.chr22:42024154_42024155insT	J04607	CCDS14021.1, CCDS74870.1, CCDS74871.1	22q13.2	2011-09-12	2008-07-31	2005-05-06	ENSG00000196419	ENSG00000196419			4055	protein-coding gene	gene with protein product	"Ku autoantigen, 70kDa"	152690	"thyroid autoantigen 70kD (Ku antigen)", "thyroid autoantigen 70kDa (Ku antigen)"	G22P1		9200330, 9223317	Standard	NM_001469		Approved	D22S731, D22S671, KU70, ML8	uc003bao.1	P12956	OTTHUMG00000151190	ENST00000359308.4:c.122dupT	22.37:g.42024161_42024161dupT	ENSP00000352257:p.Ile39fs					XRCC6_ENST00000428575.2_Intron|XRCC6_ENST00000405506.1_Intron|XRCC6_ENST00000402580.3_Frame_Shift_Ins_p.F39fs|XRCC6_ENST00000360079.3_Frame_Shift_Ins_p.F39fs|XRCC6_ENST00000405878.1_Frame_Shift_Ins_p.F39fs	p.F39fs			P12956	XRCC6_HUMAN			2	770_771	+			39			Ser-rich (potentially targets for phosphorylation).		B1AHC8|Q6FG89|Q9UCQ2|Q9UCQ3	Frame_Shift_Ins	INS	ENST00000359308.4	37	c.115_116insT	CCDS14021.1																																																																																				0.332	XRCC6-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321688.1	NM_001469		36	44						36	44	---	---	---	---	T	42024155	-	T	42024154	7	5	199	1	0	1	1	0	0	0	0	0	17454	333	12	0	121	0	XRCC6	22	42024154	Frame_Shift_Ins	INS	-	TCGA-HC-7080-01A-11D-1961-08		42024154	9280412	43	9231											
CCNL2	81669	broad.mit.edu	37	chr1	1325908	1325908	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcttcttcagttgctccaaaCaaaagaaaccaatggggacg	14	9	8	10	1	3	1	1	0	2	1	4	2	4	2	2	2	3	2	2	2	5	3			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr1:1325908C>G	ENST00000400809.3	-	7	800	c.795G>C	c.(793-795)ttG>ttC	p.L265F	CCNL2_ENST00000408952.5_Missense_Mutation_p.L43F|CCNL2_ENST00000505849.1_5'UTR	NM_030937.4	NP_112199.2	Q96S94	CCNL2_HUMAN	cyclin L2	265	Cyclin-like 2.				regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of transcription, DNA-templated (GO:0006355)|RNA processing (GO:0006396)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(3)|ovary(2)|prostate(2)	13	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;2.03e-36)|OV - Ovarian serous cystadenocarcinoma(86;4.17e-22)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.0023)|BRCA - Breast invasive adenocarcinoma(365;0.00465)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.146)		TTGCTCCAAACAAAAGAAACC	0.408																																						ENST00000400809.3																			0				central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(3)|ovary(2)|prostate(2)	13						c.(793-795)ttG>ttC		cyclin L2							96	97	97					1																	1325908		2203	4296	6499	SO:0001583	missense	81669				regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|RNA processing|transcription, DNA-dependent	nuclear speck	protein kinase binding	g.chr1:1325908C>G	AF251294	CCDS30557.1, CCDS30558.1	1p36.33	2014-07-03			ENSG00000221978	ENSG00000221978			20570	protein-coding gene	gene with protein product	"cyclin S"	613482	"cyclin M"	CCNM		14725631	Standard	NM_030937		Approved	ania-6b, PCEE, SB138, HLA-ISO, CCNS	uc001afi.2	Q96S94	OTTHUMG00000002917	ENST00000400809.3:c.795G>C	1.37:g.1325908C>G	ENSP00000383611:p.Leu265Phe					CCNL2_ENST00000505849.1_5'UTR|CCNL2_ENST00000408952.5_Missense_Mutation_p.L43F	p.L265F	NM_030937.4	NP_112199.2	Q96S94	CCNL2_HUMAN		Epithelial(90;2.03e-36)|OV - Ovarian serous cystadenocarcinoma(86;4.17e-22)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.0023)|BRCA - Breast invasive adenocarcinoma(365;0.00465)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.146)	7	800	-	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)	265			Cyclin-like 2.		A8K8A3|B1B152|Q5T2N5|Q5T2N6|Q6IQ12|Q7Z4Z8|Q8N3C9|Q8N3D5|Q8NHE3|Q8TEL0|Q96B00	Missense_Mutation	SNP	ENST00000400809.3	37	c.795G>C	CCDS30557.1	.	.	.	.	.	.	.	.	.	.	C	13.40	2.227238	0.39399	.	.	ENSG00000221978	ENST00000400809;ENST00000408952	T;T	0.26223	1.75;1.75	5.72	4.82	0.62117	Cyclin, C-terminal (1);Cyclin-like (3);	0.000000	0.56097	D	0.000026	T	0.54806	0.1881	M	0.89904	3.07	0.50039	D	0.999849	D	0.89917	1.0	D	0.87578	0.998	T	0.59606	-0.7423	10	0.40728	T	0.16	.	10.2607	0.43425	0.0:0.7788:0.1455:0.0758	.	265	Q96S94	CCNL2_HUMAN	F	265;43	ENSP00000383611:L265F;ENSP00000386132:L43F	ENSP00000383611:L265F	L	-	3	2	CCNL2	1315771	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	0.854000	0.27791	1.446000	0.47643	0.650000	0.86243	TTG		0.408	CCNL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008146.2	NM_030937		23	78	0	0	0	0.00229938	0	23	78					G	1325908	C	G	1325908	3	3	200	1	0	0	0	0	1	0	0	0	2932	477	17	5	787	5	CCNL2	1	1325908	Missense_Mutation	SNP	C	TCGA-HC-7081-01A-11D-1961-08		1325908	247924713	1	9232											
NBPF1	55672	broad.mit.edu	37	chr1	16893822	16893822	+	Frame_Shift_Del	DEL	C	C	-																															tgcaagacttcaggccctttCtcatccagcagctccctgct																										TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr1:16893822delC	ENST00000430580.2	-	25	3578	c.2691delG	c.(2689-2691)gagfs	p.E897fs	NBPF1_ENST00000432949.1_3'UTR|NBPF1_ENST00000420031.2_3'UTR	NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1	897	NBPF 5. {ECO:0000255|PROSITE- ProRule:PRU00647}.					cytoplasm (GO:0005737)									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		CAGGCCCTTTCTCATCCAGCA	0.493																																						ENST00000430580.2																			0											c.(2689-2691)gafs		neuroblastoma breakpoint family, member 1							304	278	287					1																	16893822		2202	4283	6485	SO:0001589	frameshift_variant	55672					cytoplasm		g.chr1:16893822delC	AB051480		1p36.13	2013-01-30			ENSG00000219481	ENSG00000219481		"neuroblastoma breakpoint family"	26088	protein-coding gene	gene with protein product		610501				11214970, 16079250	Standard	NM_017940		Approved	FLJ20719, KIAA1693	uc001ayw.4	Q3BBV0	OTTHUMG00000002487	ENST00000430580.2:c.2691delG	1.37:g.16893822delC	ENSP00000474456:p.Glu897fs					NBPF1_ENST00000432949.1_3'UTR|NBPF1_ENST00000420031.2_3'UTR	p.E897fs	NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)	25	3578	-			897			NBPF 5.		Q8N4E8|Q9C0H0	Frame_Shift_Del	DEL	ENST00000430580.2	37	c.2691delG																																																																																					0.493	NBPF1-005	NOVEL	upstream_uORF|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000106436.3	NM_017940		9	1785						9	1785	---	---	---	---	-	16893822	C	-	16893822	7	5	200	1	0	1	0	1	0	0	0	0	10192	912	32	0	753	0	NBPF1	1	16893822	Frame_Shift_Del	DEL	C	TCGA-HC-7081-01A-11D-1961-08	15567914	16893822	232356799	2	9233											
RPL11	6135	broad.mit.edu	37	chr1	24019135	24019135	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aggagaaccccatgcgggaaCttcgcatccgcaaactctgt	11	7	10	13	3	1	1	0	0	1	1	3	3	2	2	3	2	4	2	3	2	3	1			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr1:24019135C>T	ENST00000374550.3	+	2	88	c.43C>T	c.(43-45)Ctt>Ttt	p.L15F	RPL11_ENST00000482370.1_3'UTR	NM_000975.3|NM_001199802.1	NP_000966.2|NP_001186731.1	P62913	RL11_HUMAN	ribosomal protein L11	15					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|protein localization to nucleus (GO:0034504)|protein targeting (GO:0006605)|ribosomal large subunit biogenesis (GO:0042273)|RNA metabolic process (GO:0016070)|rRNA processing (GO:0006364)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|rRNA binding (GO:0019843)|structural constituent of ribosome (GO:0003735)			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(2)	6		Colorectal(325;3.46e-05)|Lung NSC(340;0.000112)|all_lung(284;0.00016)|Renal(390;0.000219)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;2.13e-24)|Colorectal(126;5.06e-08)|COAD - Colon adenocarcinoma(152;2.92e-06)|GBM - Glioblastoma multiforme(114;4.4e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000954)|KIRC - Kidney renal clear cell carcinoma(1967;0.00322)|STAD - Stomach adenocarcinoma(196;0.0124)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0837)|LUSC - Lung squamous cell carcinoma(448;0.185)		CATGCGGGAACTTCGCATCCG	0.547																																						ENST00000374550.3																			0				central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(2)	6						c.(43-45)Ctt>Ttt		ribosomal protein L11							111	110	111					1																	24019135		2203	4300	6503	SO:0001583	missense	6135				endocrine pancreas development|protein localization to nucleus|protein targeting|ribosomal large subunit biogenesis|rRNA processing|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|nucleolus	protein binding|rRNA binding|structural constituent of ribosome	g.chr1:24019135C>T	L05092	CCDS238.1	1p36.1-p35	2011-04-06			ENSG00000142676	ENSG00000142676		"L ribosomal proteins"	10301	protein-coding gene	gene with protein product		604175				9582194, 10343117	Standard	NM_000975		Approved	L11	uc001bhk.3	P62913	OTTHUMG00000002926	ENST00000374550.3:c.43C>T	1.37:g.24019135C>T	ENSP00000363676:p.Leu15Phe					RPL11_ENST00000482370.1_3'UTR	p.L15F	NM_000975.3|NM_001199802.1	NP_000966.2|NP_001186731.1	P62913	RL11_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;2.13e-24)|Colorectal(126;5.06e-08)|COAD - Colon adenocarcinoma(152;2.92e-06)|GBM - Glioblastoma multiforme(114;4.4e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000954)|KIRC - Kidney renal clear cell carcinoma(1967;0.00322)|STAD - Stomach adenocarcinoma(196;0.0124)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0837)|LUSC - Lung squamous cell carcinoma(448;0.185)	2	88	+		Colorectal(325;3.46e-05)|Lung NSC(340;0.000112)|all_lung(284;0.00016)|Renal(390;0.000219)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)	15					P25121|P39026|Q8TDH2|Q9Y674	Missense_Mutation	SNP	ENST00000374550.3	37	c.43C>T	CCDS238.1	.	.	.	.	.	.	.	.	.	.	C	18.91	3.723241	0.68959	.	.	ENSG00000142676	ENST00000374550;ENST00000443624;ENST00000458455	T;T;T	0.76839	-1.05;-1.05;-1.05	5.07	4.15	0.48705	Ribosomal protein L5 domain (2);	0.000000	0.85682	D	0.000000	D	0.88489	0.6450	M	0.87758	2.905	0.80722	D	1	P;P	0.48503	0.821;0.911	P;D	0.69654	0.895;0.965	D	0.89468	0.3741	10	0.52906	T	0.07	-1.013	13.8819	0.63686	0.0:0.9246:0.0:0.0754	.	14;15	P62913-2;P62913	.;RL11_HUMAN	F	15;13;13	ENSP00000363676:L15F;ENSP00000390839:L13F;ENSP00000398888:L13F	ENSP00000363676:L15F	L	+	1	0	RPL11	23891722	1.000000	0.71417	0.884000	0.34674	0.180000	0.23129	3.605000	0.54088	2.352000	0.79861	0.585000	0.79938	CTT		0.547	RPL11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008168.1	NM_000975		8	145	0	0	0	0.000274275	0	8	145					T	24019135	C	T	24019135	3	4	200	1	0	0	0	0	1	0	0	0	13557	565	20	3	49	3	RPL11	1	24019135	Missense_Mutation	SNP	C	TCGA-HC-7081-01A-11D-1961-08	7125313	24019135	225231486	3	9234											
MACF1	23499	broad.mit.edu	37	chr1	39747939	39747939	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tcagccaaggagaaactactCctgtggacccagaaggtgac	13	6	11	11	0	1	3	1	1	0	2	2	5	2	4	3	3	3	0	3	3	4	1	rs143261539		TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr1:39747939C>T	ENST00000372915.3	+	6	690	c.603C>T	c.(601-603)ctC>ctT	p.L201L	MACF1_ENST00000567887.1_Silent_p.L233L|MACF1_ENST00000361689.2_Silent_p.L201L|MACF1_ENST00000564288.1_Silent_p.L196L|MACF1_ENST00000317713.7_Silent_p.L201L|MACF1_ENST00000539005.1_Silent_p.L201L|MACF1_ENST00000545844.1_Silent_p.L201L|MACF1_ENST00000536367.1_Silent_p.L164L			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	201	Actin-binding.|CH 2. {ECO:0000255|PROSITE- ProRule:PRU00044}.				ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			AGAAACTACTCCTGTGGACCC	0.438																																						ENST00000564288.1																			0				breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203						c.(586-588)ctC>ctT		microtubule-actin crosslinking factor 1		C		1,4405	2.1+/-5.4	0,1,2202	122	115	118		603	-1.5	0.9	1	dbSNP_134	118	0,8600		0,0,4300	no	coding-synonymous	MACF1	NM_012090.4		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		201/5431	39747939	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	23499				cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding	g.chr1:39747939C>T	AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"EF-hand domain containing"	13664	protein-coding gene	gene with protein product	"actin cross-linking factor", "620 kDa actin binding protein", "macrophin 1", "trabeculin-alpha", "actin cross-linking family protein 7"	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.603C>T	1.37:g.39747939C>T						MACF1_ENST00000545844.1_Silent_p.L201L|MACF1_ENST00000372915.3_Silent_p.L201L|MACF1_ENST00000536367.1_Silent_p.L164L|MACF1_ENST00000539005.1_Silent_p.L201L|MACF1_ENST00000317713.7_Silent_p.L201L|MACF1_ENST00000567887.1_Silent_p.L233L|MACF1_ENST00000361689.2_Silent_p.L201L	p.L196L			Q9UPN3	MACF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)		7	1365	+	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	201			Actin-binding.|CH 2.		B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Silent	SNP	ENST00000372915.3	37	c.588C>T																																																																																					0.438	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1	NM_033044		7	92	0	0	0	0.000157383	0	7	92					T	39747939	C	T	39747939	2	4	200	1	0	0	0	0	0	0	0	1	9144	842	30	3		3	MACF1	1	39747939	Silent	SNP	C	TCGA-HC-7081-01A-11D-1961-08	15728804	39747939	209502682	4	9235											
NBPF15	284565	broad.mit.edu	37	chr1	148594439	148594439	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtggaagagcctgaagtcttAcaggactcactggatagatg	12	9	13	7	0	2	3	1	1	1	2	2	6	2	6	1	3	2	0	1	3	4	2			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr1:148594439A>G	ENST00000369187.3	+	19	2301	c.1812A>G	c.(1810-1812)ttA>ttG	p.L604L	NBPF15_ENST00000442702.2_Silent_p.L604L	NM_173638.3	NP_775909.2	Q8N660	NBPFF_HUMAN	neuroblastoma breakpoint family, member 15	604	NBPF 6. {ECO:0000255|PROSITE- ProRule:PRU00647}.					cytoplasm (GO:0005737)				NS(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|skin(2)	12	all_hematologic(923;0.032)					CTGAAGTCTTACAGGACTCAC	0.463																																						ENST00000442702.2																			0				NS(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|skin(2)	12						c.(1810-1812)ttA>ttG		neuroblastoma breakpoint family, member 15																																				SO:0001819	synonymous_variant	284565					cytoplasm		g.chr1:148594439A>G	BC023087	CCDS72852.1	1q21.1	2014-01-16			ENSG00000243452	ENSG00000266338		"neuroblastoma breakpoint family"	28791	protein-coding gene	gene with protein product		610414, 614005	"neuroblastoma breakpoint family, member 16"	NBPF16		16079250	Standard	NM_173638		Approved	MGC8902	uc001esc.2	Q8N660	OTTHUMG00000013634	ENST00000369187.3:c.1812A>G	1.37:g.148594439A>G						NBPF15_ENST00000369187.3_Silent_p.L604L	p.L604L	NM_001170755.1	NP_001164226.1	Q8N660	NBPFF_HUMAN			21	2879	+	all_hematologic(923;0.032)		604			NBPF 6.		Q3BBV9|Q8IX77	Silent	SNP	ENST00000369187.3	37	c.1812A>G	CCDS932.1																																																																																				0.463	NBPF15-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038609.3	NM_173638		4	369	0	0	0	0.00116845	0	4	369					G	148594439	A	G	148594439	2	3	200	1	0	0	0	0	0	0	0	1	10195	388	14	4		4	NBPF15	1	148594439	Silent	SNP	A	TCGA-HC-7081-01A-11D-1961-08	108846500	148594439	100656182	5	9236											
C1orf125	126859	broad.mit.edu	37	chr1	179437608	179437608	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aattcttccaagtttgattaGttctcttgacttctgttctt	7	21	5	8	0	4	2	0	2	4	0	6	2	5	2	1	0	0	3	1	0	3	9			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr1:179437608G>A	ENST00000367618.3	+	17	2216	c.1829G>A	c.(1828-1830)aGt>aAt	p.S610N	AXDND1_ENST00000457238.2_3'UTR|AXDND1_ENST00000461179.2_3'UTR	NM_144696.4	NP_653297.3	Q5T1B0	AXDN1_HUMAN	axonemal dynein light chain domain containing 1	610										NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(27)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	59						AGTTTGATTAGTTCTCTTGAC	0.294																																						ENST00000367618.3																			0				NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(27)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	59						c.(1828-1830)aGt>aAt		axonemal dynein light chain domain containing 1							56	58	57					1																	179437608		2203	4300	6503	SO:0001583	missense	126859							g.chr1:179437608G>A	BX647935	CCDS30948.1	1q25.2	2011-02-18	2011-02-18	2011-02-18	ENSG00000162779	ENSG00000162779			26564	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 125"	C1orf125		14702039	Standard	NM_144696		Approved	FLJ32940	uc001gmo.3	Q5T1B0	OTTHUMG00000035266	ENST00000367618.3:c.1829G>A	1.37:g.179437608G>A	ENSP00000356590:p.Ser610Asn					AXDND1_ENST00000461179.2_3'UTR|AXDND1_ENST00000457238.2_3'UTR	p.S610N	NM_144696.4	NP_653297.3	Q5T1B0	AXDN1_HUMAN			17	2216	+			610					Q6AWB2|Q96LJ3|Q96M01	Missense_Mutation	SNP	ENST00000367618.3	37	c.1829G>A	CCDS30948.1	.	.	.	.	.	.	.	.	.	.	G	0.238	-1.015554	0.02078	.	.	ENSG00000162779	ENST00000367618;ENST00000360322;ENST00000434088	T;T	0.16324	2.37;2.35	4.24	0.0979	0.14496	.	0.677331	0.16024	N	0.233161	T	0.07593	0.0191	L	0.34521	1.04	0.09310	N	1	P;B	0.37466	0.596;0.001	B;B	0.32289	0.143;0.003	T	0.27262	-1.0079	10	0.09338	T	0.73	-13.2975	2.8391	0.05524	0.0997:0.3263:0.3931:0.181	.	568;610	E9PCJ4;Q5T1B0	.;AXDN1_HUMAN	N	610;568;544	ENSP00000356590:S610N;ENSP00000391716:S544N	ENSP00000353471:S568N	S	+	2	0	AXDND1	177704231	0.007000	0.16637	0.000000	0.03702	0.360000	0.29518	0.515000	0.22801	0.024000	0.15214	-0.136000	0.14681	AGT		0.294	AXDND1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085312.1	NM_144696		4	50	0	0	0	0.000602214	0	4	50					A	179437608	G	A	179437608	3	1	200	1	0	0	0	0	1	0	0	0	1993	1029	36	3	1891	3	C1orf125	1	179437608	Missense_Mutation	SNP	G	TCGA-HC-7081-01A-11D-1961-08	30843169	179437608	69813013	6	9237											
CACNA1E	777	broad.mit.edu	37	chr1	181708361	181708361	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcctggactttgtggtggtcGttggcgcattggtggccttt	2	16	15	8	2	0	0	0	0	0	0	2	1	1	1	2	6	0	2	2	6	0	4	rs376915340	byFrequency	TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr1:181708361G>A	ENST00000367573.2	+	25	3691	c.3691G>A	c.(3691-3693)Gtt>Att	p.V1231I	CACNA1E_ENST00000367567.4_Missense_Mutation_p.V838I|CACNA1E_ENST00000360108.3_Missense_Mutation_p.V1212I|CACNA1E_ENST00000357570.5_Missense_Mutation_p.V1182I|CACNA1E_ENST00000358338.5_Missense_Mutation_p.V1163I|CACNA1E_ENST00000526775.1_Missense_Mutation_p.V1212I|CACNA1E_ENST00000367570.1_Missense_Mutation_p.V1231I	NM_001205293.1	NP_001192222.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	1231	Poly-Val.				calcium ion import (GO:0070509)|energy reserve metabolic process (GO:0006112)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|voltage-gated calcium channel activity (GO:0005245)			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						TGTGGTGGTCGTTGGCGCATT	0.502													G|||	2	0.000399361	0.0015	0	5008	,	,		22609	0		0	False		,,,				2504	0					ENST00000526775.1																			0				NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						c.(3634-3636)Gtt>Att		calcium channel, voltage-dependent, R type, alpha 1E subunit		G	ILE/VAL,ILE/VAL,ILE/VAL	1,4247		0,1,2123	341	355	350		3691,3691,3634	5	1	1		350	3,8473		0,3,4235	no	missense,missense,missense	CACNA1E	NM_000721.3,NM_001205293.1,NM_001205294.1	29,29,29	0,4,6358	AA,AG,GG		0.0354,0.0235,0.0314	possibly-damaging,possibly-damaging,possibly-damaging	1231/2271,1231/2314,1212/2252	181708361	4,12720	2124	4238	6362	SO:0001583	missense	777				energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr1:181708361G>A	AK096563	CCDS53443.1, CCDS55664.1, CCDS55665.1	1q25.3	2013-01-10	2007-02-16		ENSG00000198216	ENSG00000198216		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels", "EF-hand domain containing"	1392	protein-coding gene	gene with protein product		601013		CACNL1A6		8388125, 16382099	Standard	NM_001205293		Approved	Cav2.3, BII, CACH6	uc009wxt.3	Q15878	OTTHUMG00000037301	ENST00000367573.2:c.3691G>A	1.37:g.181708361G>A	ENSP00000356545:p.Val1231Ile					CACNA1E_ENST00000357570.5_Missense_Mutation_p.V1182I|CACNA1E_ENST00000367573.2_Missense_Mutation_p.V1231I|CACNA1E_ENST00000360108.3_Missense_Mutation_p.V1212I|CACNA1E_ENST00000358338.5_Missense_Mutation_p.V1163I|CACNA1E_ENST00000367567.4_Missense_Mutation_p.V838I|CACNA1E_ENST00000367570.1_Missense_Mutation_p.V1231I	p.V1212I	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN			24	3799	+			1231					B1AM12|B1AM13|B1AM14|Q14580|Q14581	Missense_Mutation	SNP	ENST00000367573.2	37	c.3634G>A	CCDS55664.1	.	.	.	.	.	.	.	.	.	.	G	17.58	3.424398	0.62733	2.35E-4	3.54E-4	ENSG00000198216	ENST00000367570;ENST00000526775;ENST00000357570;ENST00000358338;ENST00000367567;ENST00000360108;ENST00000367573	D;D;D;D;D;D;D	0.98264	-4.83;-4.83;-4.83;-4.83;-4.83;-4.83;-4.83	5.01	5.01	0.66863	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.95258	0.8462	N	0.02842	-0.48	0.58432	D	0.999999	D;D;D	0.67145	0.97;0.995;0.996	P;P;P	0.56788	0.757;0.806;0.772	D	0.92965	0.6392	10	0.06365	T	0.9	.	18.2808	0.90097	0.0:0.0:1.0:0.0	.	1212;1231;1231	Q15878-2;Q15878;Q15878-3	.;CAC1E_HUMAN;.	I	1231;1212;1182;1163;838;1212;1231	ENSP00000356542:V1231I;ENSP00000434814:V1212I;ENSP00000350183:V1182I;ENSP00000351101:V1163I;ENSP00000356539:V838I;ENSP00000353222:V1212I;ENSP00000356545:V1231I	ENSP00000350183:V1182I	V	+	1	0	CACNA1E	179974984	1.000000	0.71417	1.000000	0.80357	0.729000	0.41735	6.663000	0.74431	2.475000	0.83589	0.561000	0.74099	GTT		0.502	CACNA1E-003	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090793.2	NM_000721		52	144	0	0	0	0.000781405	0	52	144					A	181708361	G	A	181708361	3	1	200	1	0	0	0	0	1	0	0	0	2542	1145	40	1	3789	1	CACNA1E	1	181708361	Missense_Mutation	SNP	G	TCGA-HC-7081-01A-11D-1961-08	2270753	181708361	67542260	7	9238											
NCF2	4688	broad.mit.edu	37	chr1	183534901	183534901	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gagctgggatgtcggactgcGgagagctttcctcctgaagg	7	9	16	9	2	0	2	0	1	0	1	3	6	2	4	2	4	3	2	2	4	1	1	rs137937390	byFrequency	TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr1:183534901G>A	ENST00000367535.3	-	10	1189	c.938C>T	c.(937-939)cCg>cTg	p.P313L	NCF2_ENST00000413720.1_Missense_Mutation_p.P268L|NCF2_ENST00000469280.1_5'Flank|NCF2_ENST00000418089.1_Missense_Mutation_p.P232L|NCF2_ENST00000367536.1_Missense_Mutation_p.P313L	NM_000433.3	NP_000424.2	P19878	NCF2_HUMAN	neutrophil cytosolic factor 2	313					aging (GO:0007568)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular defense response (GO:0006968)|cellular response to hormone stimulus (GO:0032870)|innate immune response (GO:0045087)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|positive regulation of blood pressure (GO:0045777)|positive regulation of neuron apoptotic process (GO:0043525)|respiratory burst (GO:0045730)|response to activity (GO:0014823)|response to drug (GO:0042493)|response to glucose (GO:0009749)|response to hyperoxia (GO:0055093)|response to laminar fluid shear stress (GO:0034616)|response to lipopolysaccharide (GO:0032496)|response to progesterone (GO:0032570)|superoxide anion generation (GO:0042554)|superoxide metabolic process (GO:0006801)	acrosomal vesicle (GO:0001669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|NADPH oxidase complex (GO:0043020)|nucleolus (GO:0005730)|phagolysosome (GO:0032010)	electron carrier activity (GO:0009055)|protein C-terminus binding (GO:0008022)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30					Dextromethorphan(DB00514)	GTCGGACTGCGGAGAGCTTTC	0.597													G|||	5	0.000998403	0.0038	0	5008	,	,		17934	0		0	False		,,,				2504	0					ENST00000413720.1																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30						c.(802-804)cCg>cTg		neutrophil cytosolic factor 2		G	LEU/PRO,LEU/PRO,LEU/PRO,LEU/PRO	4,4402	8.1+/-20.4	0,4,2199	72	72	72		938,938,695,803	-6.2	0	1	dbSNP_134	72	0,8600		0,0,4300	yes	missense,missense,missense,missense	NCF2	NM_000433.3,NM_001127651.2,NM_001190789.1,NM_001190794.1	98,98,98,98	0,4,6499	AA,AG,GG		0.0,0.0908,0.0308	benign,benign,benign,benign	313/527,313/527,232/446,268/482	183534901	4,13002	2203	4300	6503	SO:0001583	missense	4688				cellular defense response|innate immune response|respiratory burst|superoxide anion generation	NADPH oxidase complex|nucleolus	electron carrier activity|protein C-terminus binding	g.chr1:183534901G>A	BC001606	CCDS1356.1, CCDS53446.1, CCDS53447.1	1q25	2014-09-17	2008-07-31		ENSG00000116701	ENSG00000116701		"Tetratricopeptide (TTC) repeat domain containing"	7661	protein-coding gene	gene with protein product	"NADPH oxidase activator 2", "chronic granulomatous disease, autosomal 2"	608515	"neutrophil cytosolic factor 2 (65kD, chronic granulomatous disease, autosomal 2)"				Standard	NM_000433		Approved	p67phox, NOXA2	uc001gqk.4	P19878	OTTHUMG00000035329	ENST00000367535.3:c.938C>T	1.37:g.183534901G>A	ENSP00000356505:p.Pro313Leu					NCF2_ENST00000418089.1_Missense_Mutation_p.P232L|NCF2_ENST00000367536.1_Missense_Mutation_p.P313L|NCF2_ENST00000367535.3_Missense_Mutation_p.P313L	p.P268L	NM_001190794.1	NP_001177723.1	P19878	NCF2_HUMAN			9	1077	-			313			SH3 1.		B2R6Q1|B4DKQ7|B4DQA7|E9PHJ2|E9PHX3|Q2PP06|Q8NFC7|Q9BV51	Missense_Mutation	SNP	ENST00000367535.3	37	c.803C>T	CCDS1356.1	4	0.0018315018315018315	4	0.008130081300813009	0	0.0	0	0.0	0	0.0	G	7.736	0.700266	0.15106	9.08E-4	0.0	ENSG00000116701	ENST00000367536;ENST00000392014;ENST00000413720;ENST00000418089;ENST00000367535;ENST00000419402	T;T;T;T;T	0.31510	1.49;1.49;1.49;1.49;1.49	5.27	-6.15	0.02105	Src homology-3 domain (1);	0.900210	0.09849	N	0.747816	T	0.07638	0.0192	N	0.05574	-0.02	0.09310	N	0.999992	B;B;B	0.10296	0.001;0.001;0.003	B;B;B	0.08055	0.002;0.001;0.003	T	0.22695	-1.0209	10	0.23302	T	0.38	-7.3791	4.8452	0.13510	0.4002:0.0:0.3004:0.2994	.	232;268;313	E9PHJ2;E9PHX3;P19878	.;.;NCF2_HUMAN	L	313;385;268;232;313;52	ENSP00000356506:P313L;ENSP00000399294:P268L;ENSP00000407217:P232L;ENSP00000356505:P313L;ENSP00000406198:P52L	ENSP00000356505:P313L	P	-	2	0	NCF2	181801524	0.001000	0.12720	0.000000	0.03702	0.032000	0.12392	-0.411000	0.07142	-1.846000	0.01175	0.561000	0.74099	CCG		0.597	NCF2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085483.1	NM_000433		16	69	0	0	0	0.000308642	0	16	69					A	183534901	G	A	183534901	3	1	200	1	0	0	0	0	1	0	0	0	10217	1116	39	2	666	2	NCF2	1	183534901	Missense_Mutation	SNP	G	TCGA-HC-7081-01A-11D-1961-08	1826540	183534901	65715720	8	9239											
ADORA1	134	broad.mit.edu	37	chr1	203134669	203134669	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tggaggtcttctacctaatcCgcaagcagctcaacaagaag	13	8	9	11	1	3	1	1	0	2	1	4	2	4	2	2	2	4	3	2	2	6	3	rs148415221		TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr1:203134669C>T	ENST00000367236.4	+	3	1543	c.622C>T	c.(622-624)Cgc>Tgc	p.R208C	ADORA1_ENST00000337894.4_Missense_Mutation_p.R208C|ADORA1_ENST00000309502.3_Missense_Mutation_p.R208C|ADORA1_ENST00000367235.1_3'UTR|ADORA1_ENST00000472535.1_3'UTR	NM_001048230.1	NP_001041695.1	P30542	AA1R_HUMAN	adenosine A1 receptor	208					activation of MAPKK activity (GO:0000186)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|apoptotic signaling pathway (GO:0097190)|cell-cell signaling (GO:0007267)|cognition (GO:0050890)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|inflammatory response (GO:0006954)|lipid catabolic process (GO:0016042)|negative regulation of acute inflammatory response (GO:0002674)|negative regulation of apoptotic process (GO:0043066)|negative regulation of blood pressure (GO:0045776)|negative regulation of cardiac muscle contraction (GO:0055118)|negative regulation of cell proliferation (GO:0008285)|negative regulation of circadian sleep/wake cycle, non-REM sleep (GO:0042323)|negative regulation of glutamate secretion (GO:0014050)|negative regulation of heart contraction (GO:0045822)|negative regulation of hormone secretion (GO:0046888)|negative regulation of leukocyte migration (GO:0002686)|negative regulation of lipid catabolic process (GO:0050995)|negative regulation of mucus secretion (GO:0070256)|negative regulation of neurotrophin production (GO:0032900)|negative regulation of renal sodium excretion (GO:0035814)|negative regulation of synaptic transmission, GABAergic (GO:0032229)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|negative regulation of vasodilation (GO:0045908)|nervous system development (GO:0007399)|phagocytosis (GO:0006909)|positive regulation of blood pressure (GO:0045777)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of nucleoside transport (GO:0032244)|positive regulation of peptide secretion (GO:0002793)|positive regulation of potassium ion transport (GO:0043268)|positive regulation of protein dephosphorylation (GO:0035307)|protein targeting to membrane (GO:0006612)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of glomerular filtration (GO:0003093)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic plasticity (GO:0048167)|relaxation of vascular smooth muscle (GO:0060087)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|temperature homeostasis (GO:0001659)	asymmetric synapse (GO:0032279)|axolemma (GO:0030673)|basolateral plasma membrane (GO:0016323)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	G-protein coupled adenosine receptor activity (GO:0001609)|phospholipase C activity (GO:0004629)|purine nucleoside binding (GO:0001883)	p.R208C(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(9)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	25					Adenosine(DB00640)|Aminophylline(DB01223)|Caffeine(DB00201)|Defibrotide(DB04932)|Dyphylline(DB00651)|Enprofylline(DB00824)|Gabapentin(DB00996)|Oxtriphylline(DB01303)|Pentoxifylline(DB00806)|Theobromine(DB01412)|Theophylline(DB00277)	CTACCTAATCCGCAAGCAGCT	0.552													C|||	1	0.000199681	0	0	5008	,	,		19457	0		0.001	False		,,,				2504	0					ENST00000367236.4																			1	Substitution - Missense(1)	p.R208C(1)	central_nervous_system(1)	central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(9)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	25						c.(622-624)Cgc>Tgc		adenosine A1 receptor	Aminophylline(DB01223)|Caffeine(DB00201)|Defibrotide(DB04932)|Gabapentin(DB00996)|Imipramine(DB00458)|Pegademase bovine(DB00061)|Theophylline(DB00277)						137	136	136					1																	203134669		2203	4300	6503	SO:0001583	missense	134				induction of apoptosis by extracellular signals|inflammatory response|nervous system development|phagocytosis	integral to plasma membrane		g.chr1:203134669C>T	BC026340	CCDS1434.1	1q32.1	2012-08-08			ENSG00000163485	ENSG00000163485		"GPCR / Class A : Adenosine receptors"	262	protein-coding gene	gene with protein product		102775				1662665, 2541503	Standard	NM_001048230		Approved	RDC7	uc001gzf.1	P30542	OTTHUMG00000042125	ENST00000367236.4:c.622C>T	1.37:g.203134669C>T	ENSP00000356205:p.Arg208Cys					ADORA1_ENST00000367235.1_3'UTR|ADORA1_ENST00000472535.1_3'UTR|ADORA1_ENST00000337894.4_Missense_Mutation_p.R208C|ADORA1_ENST00000309502.3_Missense_Mutation_p.R208C	p.R208C	NM_001048230.1	NP_001041695.1	P30542	AA1R_HUMAN			3	1543	+			208					A6NFY5|A6NGP4|A8K1L3|B3KXQ4|D2CGD0|Q6FHK3|Q8TAM8	Missense_Mutation	SNP	ENST00000367236.4	37	c.622C>T	CCDS1434.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	24.8	4.575856	0.86645	.	.	ENSG00000163485	ENST00000309502;ENST00000367236;ENST00000337894	T;T;T	0.42900	0.96;0.96;0.96	5.51	5.51	0.81932	GPCR, rhodopsin-like superfamily (1);	0.095678	0.85682	D	0.000000	T	0.49355	0.1552	M	0.81239	2.535	0.80722	D	1	P;D;P	0.52996	0.718;0.957;0.726	B;B;B	0.40534	0.133;0.332;0.299	T	0.58451	-0.7634	10	0.44086	T	0.13	-34.743	19.4035	0.94640	0.0:1.0:0.0:0.0	.	241;140;208	B7Z379;B7Z1L9;P30542	.;.;AA1R_HUMAN	C	208	ENSP00000308549:R208C;ENSP00000356205:R208C;ENSP00000338435:R208C	ENSP00000308549:R208C	R	+	1	0	ADORA1	201401292	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	5.965000	0.70387	2.586000	0.87340	0.561000	0.74099	CGC		0.552	ADORA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000100273.1	NM_000674		5	77	0	0	0	0.00116845	0	5	77					T	203134669	C	T	203134669	3	4	200	1	0	0	0	0	1	0	0	0	326	652	23	2	628	2	ADORA1	1	203134669	Missense_Mutation	SNP	C	TCGA-HC-7081-01A-11D-1961-08	19599768	203134669	46115952	9	9240											
IFT172	26160	broad.mit.edu	37	chr2	27682634	27682634	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cttctgctgcaccaggtggtCcccccatgcctcctctagtt	4	12	8	17	0	2	0	0	0	2	0	4	0	4	0	6	2	3	3	6	2	1	3			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr2:27682634C>T	ENST00000260570.3	-	24	2687	c.2584G>A	c.(2584-2586)Gac>Aac	p.D862N		NM_015662.1	NP_056477.1	Q9UG01	IF172_HUMAN	intraflagellar transport 172	862					bone development (GO:0060348)|brain development (GO:0007420)|cilium assembly (GO:0042384)|cytoplasmic microtubule organization (GO:0031122)|dorsal/ventral pattern formation (GO:0009953)|epidermis development (GO:0008544)|heart looping (GO:0001947)|hindgut development (GO:0061525)|left/right axis specification (GO:0070986)|limb development (GO:0060173)|negative regulation of epithelial cell proliferation (GO:0050680)|neural tube closure (GO:0001843)|Notch signaling pathway (GO:0007219)|palate development (GO:0060021)|positive regulation of smoothened signaling pathway (GO:0045880)|protein processing (GO:0016485)|smoothened signaling pathway (GO:0007224)|spinal cord motor neuron differentiation (GO:0021522)	axoneme (GO:0005930)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|intraciliary transport particle B (GO:0030992)|sperm midpiece (GO:0097225)|sperm principal piece (GO:0097228)|vesicle (GO:0031982)				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(17)|lung(17)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	43	Acute lymphoblastic leukemia(172;0.155)					ACCAGGTGGTCCCCCCATGCC	0.527																																						ENST00000260570.3																			0				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(17)|lung(17)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	43						c.(2584-2586)Gac>Aac		intraflagellar transport 172 homolog (Chlamydomonas)							191	181	184					2																	27682634		2203	4300	6503	SO:0001583	missense	26160				cilium assembly	cilium	binding	g.chr2:27682634C>T	AB033005	CCDS1755.1	2p23.3	2014-07-03	2014-07-03		ENSG00000138002	ENSG00000138002		"Intraflagellar transport homologs", "WD repeat domain containing"	30391	protein-coding gene	gene with protein product	"wimple homolog"	607386	"intraflagellar transport 172 homolog (Chlamydomonas)"			10788441, 10574461, 24140113	Standard	XM_005264254		Approved	SLB, wim, osm-1, NPHP17	uc002rku.3	Q9UG01	OTTHUMG00000128425	ENST00000260570.3:c.2584G>A	2.37:g.27682634C>T	ENSP00000260570:p.Asp862Asn						p.D862N	NM_015662.1	NP_056477.1	Q9UG01	IF172_HUMAN			24	2687	-	Acute lymphoblastic leukemia(172;0.155)		862					A5PKZ0|B2RNU5|Q86X44|Q96HW4|Q9UFJ9|Q9ULP1	Missense_Mutation	SNP	ENST00000260570.3	37	c.2584G>A	CCDS1755.1	.	.	.	.	.	.	.	.	.	.	C	36	5.788423	0.96945	.	.	ENSG00000138002	ENST00000260570	T	0.63580	-0.05	6.08	6.08	0.98989	Tetratricopeptide-like helical (1);	0.000000	0.85682	D	0.000000	T	0.80048	0.4552	M	0.75085	2.285	0.80722	D	1	D	0.76494	0.999	D	0.76575	0.988	T	0.78783	-0.2069	10	0.51188	T	0.08	-26.7716	19.2286	0.93827	0.0:1.0:0.0:0.0	.	862	Q9UG01	IF172_HUMAN	N	862	ENSP00000260570:D862N	ENSP00000260570:D862N	D	-	1	0	IFT172	27536138	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	7.569000	0.82380	2.890000	0.99128	0.655000	0.94253	GAC		0.527	IFT172-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250213.2	NM_015662		18	195	0	0	0	0.00074312	0	18	195					T	27682634	C	T	27682634	3	4	200	1	0	0	0	0	1	0	0	0	7557	855	30	3	2765	3	IFT172	2	27682634	Missense_Mutation	SNP	C	TCGA-HC-7081-01A-11D-1961-08		27682634	215516739	10	9241											
BTLA	151888	broad.mit.edu	37	chr3	112198518	112198518	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacatgaggcctgttagcacAgtatttcacagggcattcta	11	11	9	10	0	2	1	1	1	1	0	2	1	2	1	1	2	1	4	1	2	3	5			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr3:112198518A>G	ENST00000334529.5	-	2	389	c.187T>C	c.(187-189)Tgt>Cgt	p.C63R	BTLA_ENST00000383680.4_Missense_Mutation_p.C63R	NM_181780.3	NP_861445	Q7Z6A9	BTLA_HUMAN	B and T lymphocyte associated	63	Ig-like V-type.				immune response-regulating cell surface receptor signaling pathway (GO:0002768)|negative regulation of alpha-beta T cell proliferation (GO:0046642)|negative regulation of B cell proliferation (GO:0030889)|T cell costimulation (GO:0031295)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			breast(1)|central_nervous_system(1)|cervix(2)|large_intestine(1)|lung(5)|prostate(1)	11		Acute lymphoblastic leukemia(4;1.34e-07)|all_hematologic(4;0.000361)				CTGTTAGCACAGTATTTCACA	0.398																																						ENST00000334529.5																			0				breast(1)|central_nervous_system(1)|cervix(2)|large_intestine(1)|lung(5)|prostate(1)	11						c.(187-189)Tgt>Cgt		B and T lymphocyte associated							139	131	133					3																	112198518		2203	4300	6503	SO:0001583	missense	151888				T cell costimulation		receptor activity	g.chr3:112198518A>G	AY293286	CCDS33819.1, CCDS43130.1	3q13.2	2013-01-11			ENSG00000186265	ENSG00000186265		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	21087	protein-coding gene	gene with protein product		607925				12796776	Standard	NM_001085357		Approved	BTLA1, CD272	uc003dza.4	Q7Z6A9	OTTHUMG00000159255	ENST00000334529.5:c.187T>C	3.37:g.112198518A>G	ENSP00000333919:p.Cys63Arg					BTLA_ENST00000383680.4_Missense_Mutation_p.C63R	p.C63R	NM_181780.3	NP_861445.3	Q7Z6A9	BTLA_HUMAN			2	389	-		Acute lymphoblastic leukemia(4;1.34e-07)|all_hematologic(4;0.000361)	63			Ig-like V-type.		Q3B831|Q3HS85|Q6ZNH9	Missense_Mutation	SNP	ENST00000334529.5	37	c.187T>C	CCDS33819.1	.	.	.	.	.	.	.	.	.	.	A	16.91	3.253609	0.59212	.	.	ENSG00000186265	ENST00000334529;ENST00000383680	T;T	0.40476	1.03;1.03	3.27	3.27	0.37495	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.51477	D	0.000099	T	0.54615	0.1869	L	0.54323	1.7	0.80722	D	1	D;D	0.89917	0.998;1.0	D;D	0.91635	0.993;0.999	T	0.56715	-0.7933	10	0.87932	D	0	-12.9693	8.28	0.31896	1.0:0.0:0.0:0.0	.	63;63	Q7Z6A9-2;Q7Z6A9	.;BTLA_HUMAN	R	63	ENSP00000333919:C63R;ENSP00000373178:C63R	ENSP00000333919:C63R	C	-	1	0	BTLA	113681208	1.000000	0.71417	0.974000	0.42286	0.349000	0.29174	4.051000	0.57412	1.740000	0.51718	0.533000	0.62120	TGT		0.398	BTLA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000354101.1	NM_181780		46	75	0	0	0	0.000781405	0	46	75					G	112198518	A	G	112198518	3	3	200	1	0	0	0	0	1	0	0	0	1558	188	7	4	698	4	BTLA	3	112198518	Missense_Mutation	SNP	A	TCGA-HC-7081-01A-11D-1961-08		112198518	85823912	11	9242											
PIK3CA	5290	broad.mit.edu	37	chr3	178921552	178921552	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tctttgtgcaacctacgtgaAtgtaaatattcgagacattg	12	14	8	7	2	1	2	0	1	1	1	2	3	1	2	1	0	3	2	1	0	6	6			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr3:178921552A>T	ENST00000263967.3	+	5	1191	c.1034A>T	c.(1033-1035)aAt>aTt	p.N345I		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	345	C2 PI3K-type. {ECO:0000255|PROSITE- ProRule:PRU00880}.				angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.N345I(4)|p.N345S(1)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	ACCTACGTGAATGTAAATATT	0.303		57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	ENST00000263967.3		57		Dom	yes		3	3q26.3	5290	Mis	"phosphoinositide-3-kinase, catalytic, alpha polypeptide"			"E, O"			"colorectal, gastric, gliobastoma, breast"		5	Substitution - Missense(5)	p.N345I(4)|p.N345S(1)	endometrium(2)|breast(2)|central_nervous_system(1)	NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269						c.(1033-1035)aAt>aTt		phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha							67	66	67					3																	178921552		1807	4074	5881	SO:0001583	missense	5290				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	g.chr3:178921552A>T		CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"phosphoinositide-3-kinase, catalytic, alpha polypeptide"			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.1034A>T	3.37:g.178921552A>T	ENSP00000263967:p.Asn345Ile	HNSCC(19;0.045)|TSP Lung(28;0.18)					p.N345I	NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		5	1191	+	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		345					Q14CW1|Q99762	Missense_Mutation	SNP	ENST00000263967.3	37	c.1034A>T	CCDS43171.1	.	.	.	.	.	.	.	.	.	.	A	23.9	4.466842	0.84425	.	.	ENSG00000121879	ENST00000263967	T	0.70164	-0.46	5.41	5.41	0.78517	C2 calcium-dependent membrane targeting (1);C2 calcium/lipid-binding domain, CaLB (1);Phosphoinositide 3-kinase, C2 (1);	0.000000	0.85682	D	0.000000	T	0.80899	0.4712	M	0.71581	2.175	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.82404	-0.0474	10	0.56958	D	0.05	-21.0442	15.721	0.77710	1.0:0.0:0.0:0.0	.	345	P42336	PK3CA_HUMAN	I	345	ENSP00000263967:N345I	ENSP00000263967:N345I	N	+	2	0	PIK3CA	180404246	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.851000	0.92205	2.166000	0.68216	0.402000	0.26972	AAT		0.303	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2			4	105	0	0	0	0.00024832	0	4	105					T	178921552	A	T	178921552	3	4	200	1	0	0	0	0	1	0	0	0	11913	101	4	5	1048	5	PIK3CA	3	178921552	Missense_Mutation	SNP	A	TCGA-HC-7081-01A-11D-1961-08	66723034	178921552	19100878	12	9243											
PIK3CA	5290	broad.mit.edu	37	chr3	178936083	178936083	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacacgagatcctctctctgAaatcactgagcaggagaaag	14	8	9	10	1	3	4	1	2	2	2	5	6	4	4	1	1	2	1	1	1	3	1			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr3:178936083A>C	ENST00000263967.3	+	10	1782	c.1625A>C	c.(1624-1626)gAa>gCa	p.E542A		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	542	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.		E -> K (in CLOVE, KERSEB, CRC and BC; also found in glioblastoma multiforme and endometrial carcinoma; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N- terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation). {ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15784156, ECO:0000269|PubMed:15924253, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:16353168, ECO:0000269|PubMed:16533766, ECO:0000269|PubMed:17673550, ECO:0000269|PubMed:22658544}.|E -> Q (found in an endometrial carcinoma sample; unknown pathological significance). {ECO:0000269|PubMed:16322209}.|E -> V (in BC; unknown pathological significance). {ECO:0000269|PubMed:16353168}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.E542V(8)|p.E542A(4)|p.E542G(1)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	CCTCTCTCTGAAATCACTGAG	0.333		57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	ENST00000263967.3		57		Dom	yes		3	3q26.3	5290	Mis	"phosphoinositide-3-kinase, catalytic, alpha polypeptide"			"E, O"			"colorectal, gastric, gliobastoma, breast"		13	Substitution - Missense(13)	p.E542V(8)|p.E542A(4)|p.E542G(1)	large_intestine(5)|endometrium(5)|breast(2)|ovary(1)	NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269						c.(1624-1626)gAa>gCa		phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha							57	57	57					3																	178936083		1809	4069	5878	SO:0001583	missense	5290				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	g.chr3:178936083A>C		CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"phosphoinositide-3-kinase, catalytic, alpha polypeptide"			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.1625A>C	3.37:g.178936083A>C	ENSP00000263967:p.Glu542Ala	HNSCC(19;0.045)|TSP Lung(28;0.18)					p.E542A	NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		10	1782	+	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		542		E -> K (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation).|E -> Q (in cancer).|E -> V (in cancer).	PI3K helical.		Q14CW1|Q99762	Missense_Mutation	SNP	ENST00000263967.3	37	c.1625A>C	CCDS43171.1	.	.	.	.	.	.	.	.	.	.	A	27.6	4.842986	0.91197	.	.	ENSG00000121879	ENST00000263967	T	0.63417	-0.04	5.78	5.78	0.91487	Phosphoinositide 3-kinase, accessory (PIK) domain (3);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.70334	0.3212	L	0.49778	1.585	0.80722	D	1	D	0.58268	0.982	P	0.61070	0.883	T	0.65459	-0.6163	10	0.17832	T	0.49	-23.9623	16.1026	0.81194	1.0:0.0:0.0:0.0	.	542	P42336	PK3CA_HUMAN	A	542	ENSP00000263967:E542A	ENSP00000263967:E542A	E	+	2	0	PIK3CA	180418777	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	8.962000	0.93254	2.198000	0.70561	0.383000	0.25322	GAA		0.333	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2			5	56	0	0	0	0.00116845	0	5	56					C	178936083	A	C	178936083	3	2	200	1	0	0	0	0	1	0	0	0	11913	246	9	5	1659	5	PIK3CA	3	178936083	Missense_Mutation	SNP	A	TCGA-HC-7081-01A-11D-1961-08	14531	178936083	19086347	13	9244											
MTTP	4547	broad.mit.edu	37	chr4	100503185	100503185	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gggctaccgcatttcctccaAcgtggatgtggccttactat	7	12	10	12	2	0	0	0	0	0	0	2	1	2	1	4	3	3	2	4	3	4	4			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr4:100503185A>G	ENST00000265517.5	+	2	388	c.185A>G	c.(184-186)aAc>aGc	p.N62S	MTTP_ENST00000511045.1_Missense_Mutation_p.N89S|MTTP_ENST00000422897.2_Missense_Mutation_p.N62S|MTTP_ENST00000457717.1_Missense_Mutation_p.N62S			P55157	MTP_HUMAN	microsomal triglyceride transfer protein	62	Vitellogenin. {ECO:0000255|PROSITE- ProRule:PRU00557}.				cholesterol homeostasis (GO:0042632)|lipid metabolic process (GO:0006629)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|protein lipidation (GO:0006497)|response to calcium ion (GO:0051592)|small molecule metabolic process (GO:0044281)|triglyceride metabolic process (GO:0006641)	basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|endoplasmic reticulum lumen (GO:0005788)|Golgi apparatus (GO:0005794)|membrane-bounded vesicle (GO:0031988)|microvillus membrane (GO:0031528)|receptor complex (GO:0043235)|rough endoplasmic reticulum (GO:0005791)	lipid binding (GO:0008289)|lipid transporter activity (GO:0005319)			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(14)|lung(19)|ovary(4)|prostate(5)|skin(1)|urinary_tract(1)	57				OV - Ovarian serous cystadenocarcinoma(123;6.04e-09)	Hesperetin(DB01094)|Lomitapide(DB08827)	ATTTCCTCCAACGTGGATGTG	0.463																																						ENST00000457717.1																			0				breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(14)|lung(19)|ovary(4)|prostate(5)|skin(1)|urinary_tract(1)	57						c.(184-186)aAc>aGc		microsomal triglyceride transfer protein	Hesperetin(DB01094)						173	142	153					4																	100503185		2203	4300	6503	SO:0001583	missense	4547				lipid metabolic process|lipoprotein metabolic process	endoplasmic reticulum lumen	lipid binding|lipid transporter activity	g.chr4:100503185A>G		CCDS3651.1, CCDS75169.1	4q24	2008-02-05	2005-11-04	2005-11-04	ENSG00000138823	ENSG00000138823			7467	protein-coding gene	gene with protein product		157147	"microsomal triglyceride transfer protein (large polypeptide, 88kD)", "microsomal triglyceride transfer protein (large polypeptide, 88kDa)"	MTP		8111381	Standard	XM_005263025		Approved	ABL	uc003hvc.4	P55157	OTTHUMG00000131023	ENST00000265517.5:c.185A>G	4.37:g.100503185A>G	ENSP00000265517:p.Asn62Ser					MTTP_ENST00000511045.1_Missense_Mutation_p.N89S|MTTP_ENST00000422897.2_Missense_Mutation_p.N62S|MTTP_ENST00000265517.5_Missense_Mutation_p.N62S	p.N62S	NM_000253.2	NP_000244.2	P55157	MTP_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;6.04e-09)	3	441	+			62			Vitellogenin.		A8K428|Q08AM4|Q6P5T3	Missense_Mutation	SNP	ENST00000265517.5	37	c.185A>G	CCDS3651.1	.	.	.	.	.	.	.	.	.	.	A	0.967	-0.701365	0.03255	.	.	ENSG00000138823	ENST00000506883;ENST00000511045;ENST00000457717;ENST00000265517;ENST00000422897;ENST00000538053	T;T;T;T;T	0.39406	1.08;1.08;1.08;1.08;1.08	5.76	-4.4	0.03600	Lipid transport protein, beta-sheet shell (1);Lipid transport protein, N-terminal (3);Vitellinogen, beta-sheet N-terminal (1);	0.644830	0.16861	N	0.196524	T	0.26412	0.0645	L	0.27053	0.805	0.09310	N	1	B;B;B	0.14012	0.009;0.001;0.0	B;B;B	0.14578	0.011;0.005;0.005	T	0.07539	-1.0767	10	0.33940	T	0.23	-11.5377	14.1229	0.65201	0.4557:0.0:0.5443:0.0	.	89;62;62	E9PBP6;P55157;Q6P5T3	.;MTP_HUMAN;.	S	72;89;62;62;62;62	ENSP00000426755:N72S;ENSP00000427679:N89S;ENSP00000400821:N62S;ENSP00000265517:N62S;ENSP00000407350:N62S	ENSP00000265517:N62S	N	+	2	0	MTTP	100722208	0.597000	0.26874	0.002000	0.10522	0.003000	0.03518	0.662000	0.25038	-1.051000	0.03226	-0.912000	0.02778	AAC		0.463	MTTP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253662.3			32	103	0	0	0	0.00283554	0	32	103					G	100503185	A	G	100503185	3	3	200	1	0	0	0	0	1	0	0	0	9964	43	2	4	191	4	MTTP	4	100503185	Missense_Mutation	SNP	A	TCGA-HC-7081-01A-11D-1961-08		100503185	90651091	14	9245											
MAS1L	116511	broad.mit.edu	37	chr6	29454710	29454710	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tctgagagattccttcagccTtttctttctgaggctcccca	6	15	7	13	0	4	3	1	2	3	1	6	4	6	3	4	1	1	1	4	1	0	5			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr6:29454710T>C	ENST00000377127.3	-	1	1028	c.970A>G	c.(970-972)Agg>Ggg	p.R324G		NM_052967.1	NP_443199.1	P35410	MAS1L_HUMAN	MAS1 proto-oncogene like, G protein-coupled receptor	324					G-protein coupled receptor signaling pathway (GO:0007186)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.R324G(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(7)|pancreas(1)|prostate(2)|skin(2)	28						TCCTTCAGCCTTTTCTTTCTG	0.463																																					NSCLC(153;755 1987 3859 11251 32945)	ENST00000377127.3																			1	Substitution - Missense(1)	p.R324G(1)	prostate(1)	NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(7)|pancreas(1)|prostate(2)|skin(2)	28						c.(970-972)Agg>Ggg		MAS1 oncogene-like							94	100	98					6																	29454710		2203	4300	6503	SO:0001583	missense	116511					cytoplasm|integral to membrane|nucleus|plasma membrane	G-protein coupled receptor activity	g.chr6:29454710T>C	S78653	CCDS4661.1	6p22.1	2014-06-26	2014-06-26		ENSG00000204687	ENSG00000204687		"GPCR / Class A : Orphans"	13961	protein-coding gene	gene with protein product		607235	"MAS1 oncogene-like"				Standard	NM_052967		Approved	MAS-L, MRG, dJ994E9.2	uc011dlq.2	P35410	OTTHUMG00000031089	ENST00000377127.3:c.970A>G	6.37:g.29454710T>C	ENSP00000366331:p.Arg324Gly						p.R324G	NM_052967.1	NP_443199.1	P35410	MAS1L_HUMAN			1	1028	-			324					Q5SUN5	Missense_Mutation	SNP	ENST00000377127.3	37	c.970A>G	CCDS4661.1	.	.	.	.	.	.	.	.	.	.	T	7.400	0.632554	0.14322	.	.	ENSG00000204687	ENST00000377127	T	0.37584	1.19	2.36	-0.36	0.12568	.	.	.	.	.	T	0.14527	0.0351	L	0.39633	1.23	0.09310	N	1	B	0.29378	0.243	B	0.36845	0.234	T	0.38134	-0.9675	9	0.56958	D	0.05	.	8.1955	0.31394	0.0:0.0:0.4246:0.5754	.	324	P35410	MAS1L_HUMAN	G	324	ENSP00000366331:R324G	ENSP00000366331:R324G	R	-	1	2	MAS1L	29562689	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.995000	0.03712	-0.236000	0.09753	-0.612000	0.04053	AGG		0.463	MAS1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076126.2	NM_052967		3	172	0	0	0	6.4e-05	0	3	172					C	29454710	T	C	29454710	3	2	200	1	0	0	0	0	1	0	0	0	9321	1608	56	4	168	4	MAS1L	6	29454710	Missense_Mutation	SNP	T	TCGA-HC-7081-01A-11D-1961-08		29454710	141660357	15	9246											
TNFRSF21	27242	broad.mit.edu	37	chr6	47200572	47200572	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcttcctggctcttgactcCaataatttcgaatagccggt	8	13	9	11	2	1	1	0	1	1	0	4	2	3	1	3	3	1	2	3	3	4	5			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr6:47200572C>A	ENST00000296861.2	-	6	2290	c.1897G>T	c.(1897-1899)Gga>Tga	p.G633*		NM_014452.3	NP_055267.1	O75509	TNR21_HUMAN	tumor necrosis factor receptor superfamily, member 21	633					adaptive immune response (GO:0002250)|apoptotic process (GO:0006915)|B cell apoptotic process (GO:0001783)|cellular lipid metabolic process (GO:0044255)|cellular response to tumor necrosis factor (GO:0071356)|humoral immune response (GO:0006959)|myelination (GO:0042552)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of interleukin-10 secretion (GO:2001180)|negative regulation of interleukin-13 secretion (GO:2000666)|negative regulation of interleukin-5 secretion (GO:2000663)|negative regulation of myelination (GO:0031642)|negative regulation of T cell proliferation (GO:0042130)|neuron apoptotic process (GO:0051402)|oligodendrocyte apoptotic process (GO:0097252)|regulation of oligodendrocyte differentiation (GO:0048713)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)	axon (GO:0030424)|integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|lung(7)|pancreas(1)|skin(2)	21			Lung(136;0.189)			CTCTTGACTCCAATAATTTCG	0.478																																						ENST00000296861.2																			0				breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|lung(7)|pancreas(1)|skin(2)	21						c.(1897-1899)Gga>Tga		tumor necrosis factor receptor superfamily, member 21							106	118	114					6																	47200572		2203	4300	6503	SO:0001587	stop_gained	27242				cellular lipid metabolic process	cytoplasm|integral to membrane	protein binding|receptor activity	g.chr6:47200572C>A	AF068868	CCDS4921.1	6p21.1	2011-08-11			ENSG00000146072	ENSG00000146072		"Tumor necrosis factor receptor superfamily", "CD molecules"	13469	protein-coding gene	gene with protein product	"death receptor 6"	605732				9714541	Standard	NM_014452		Approved	DR6, CD358	uc003oyv.3	O75509	OTTHUMG00000014796	ENST00000296861.2:c.1897G>T	6.37:g.47200572C>A	ENSP00000296861:p.Gly633*						p.G633*	NM_014452.3	NP_055267.1	O75509	TNR21_HUMAN	Lung(136;0.189)		6	2290	-			633					B2RDI9|Q0D2P5|Q96D86	Nonsense_Mutation	SNP	ENST00000296861.2	37	c.1897G>T	CCDS4921.1	.	.	.	.	.	.	.	.	.	.	C	42	9.340086	0.99142	.	.	ENSG00000146072	ENST00000296861;ENST00000419206	.	.	.	5.95	5.95	0.96441	.	0.150367	0.64402	D	0.000012	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	18.5737	0.91147	0.0:1.0:0.0:0.0	.	.	.	.	X	633;322	.	ENSP00000296861:G633X	G	-	1	0	TNFRSF21	47308531	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.824000	0.97209	0.655000	0.94253	GGA		0.478	TNFRSF21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040814.1	NM_014452		45	120	1	0	1.41504e-22	0.00285205	2.1933e-21	45	120					A	47200572	C	A	47200572	4	1	200	1	0	0	0	0	0	1	0	0	16292	603	21	5	74	5	TNFRSF21	6	47200572	Nonsense_Mutation	SNP	C	TCGA-HC-7081-01A-11D-1961-08	17745862	47200572	123914495	16	9247											
CYB5R4	51167	broad.mit.edu	37	chr6	84644322	84644322	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atcactttttaggtttgtacTacagaaagtgccagttaatt	12	16	7	6	0	1	1	1	0	0	1	1	1	1	1	1	1	3	3	1	1	5	8			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr6:84644322T>C	ENST00000369681.5	+	11	963	c.823T>C	c.(823-825)Tac>Cac	p.Y275H	CYB5R4_ENST00000479164.1_3'UTR	NM_016230.3	NP_057314.2	Q7L1T6	NB5R4_HUMAN	cytochrome b5 reductase 4	275	FAD-binding FR-type. {ECO:0000255|PROSITE-ProRule:PRU00716}.				cell development (GO:0048468)|detection of oxygen (GO:0003032)|generation of precursor metabolites and energy (GO:0006091)|glucose homeostasis (GO:0042593)|insulin secretion (GO:0030073)|NADP metabolic process (GO:0006739)|oxidation-reduction process (GO:0055114)|response to antibiotic (GO:0046677)|superoxide metabolic process (GO:0006801)	endoplasmic reticulum (GO:0005783)|perinuclear region of cytoplasm (GO:0048471)	cytochrome-b5 reductase activity, acting on NAD(P)H (GO:0004128)|flavin adenine dinucleotide binding (GO:0050660)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|NAD(P)H oxidase activity (GO:0016174)|NADPH-hemoprotein reductase activity (GO:0003958)|oxidoreductase activity, acting on NAD(P)H, heme protein as acceptor (GO:0016653)			breast(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	23		all_cancers(76;7e-07)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00128)		BRCA - Breast invasive adenocarcinoma(397;0.0871)		AGGTTTGTACTACAGAAAGTG	0.358																																					Esophageal Squamous(86;1289 1332 25971 40349 52675)	ENST00000369681.4																			0				breast(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	23						c.(823-825)Tac>Cac		cytochrome b5 reductase 4							103	103	103					6																	84644322		2203	4300	6503	SO:0001583	missense	51167				cell development|detection of oxygen|generation of precursor metabolites and energy|glucose homeostasis|insulin secretion|response to antibiotic|superoxide metabolic process	endoplasmic reticulum|perinuclear region of cytoplasm	cytochrome-b5 reductase activity|heme binding|NAD(P)H oxidase activity	g.chr6:84644322T>C	AF169803	CCDS5000.2	6q14.2	2012-09-19		2005-07-13	ENSG00000065615	ENSG00000065615	1.6.2.2		20147	protein-coding gene	gene with protein product		608343	"NADPH cytochrome B5 oxidoreductase"	NCB5OR		10611283	Standard	NM_016230		Approved	b5+b5R, dJ676J13.1	uc003pkf.3	Q7L1T6	OTTHUMG00000015118	ENST00000369681.5:c.823T>C	6.37:g.84644322T>C	ENSP00000358695:p.Tyr275His					CYB5R4_ENST00000479164.1_3'UTR	p.Y275H	NM_016230.3	NP_057314.2	Q7L1T6	NB5R4_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.0871)	11	963	+		all_cancers(76;7e-07)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00128)	275			FAD-binding FR-type.		B1AEM2|Q5TGI9|Q9NUE4|Q9UHI9	Missense_Mutation	SNP	ENST00000369681.5	37	c.823T>C	CCDS5000.2	.	.	.	.	.	.	.	.	.	.	T	21.8	4.203214	0.79127	.	.	ENSG00000065615	ENST00000369681	D	0.93906	-3.31	5.94	5.94	0.96194	Riboflavin synthase-like beta-barrel (1);Ferredoxin reductase-type FAD-binding domain (1);	0.054564	0.85682	D	0.000000	D	0.95319	0.8481	M	0.81112	2.525	0.80722	D	1	P	0.46578	0.88	P	0.55545	0.778	D	0.95874	0.8893	10	0.87932	D	0	.	16.0669	0.80891	0.0:0.0:0.0:1.0	.	275	Q7L1T6	NB5R4_HUMAN	H	275	ENSP00000358695:Y275H	ENSP00000358695:Y275H	Y	+	1	0	CYB5R4	84701041	1.000000	0.71417	1.000000	0.80357	0.880000	0.50808	5.194000	0.65125	2.282000	0.76494	0.528000	0.53228	TAC		0.358	CYB5R4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041362.4	NM_016230		15	20	0	0	0	0.000308642	0	15	20					C	84644322	T	C	84644322	3	2	200	1	0	0	0	0	1	0	0	0	4129	1522	53	4	865	4	CYB5R4	6	84644322	Missense_Mutation	SNP	T	TCGA-HC-7081-01A-11D-1961-08	37443750	84644322	86470745	17	9248											
HDAC9	9734	broad.mit.edu	37	chr7	18975506	18975506	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggctctagaaggaggacatGatctcacagccatctgtgat	11	10	11	9	0	3	3	1	2	3	1	4	5	3	5	1	3	1	1	1	3	2	1			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr7:18975506G>T	ENST00000432645.2	+	22	2869	c.2869G>T	c.(2869-2871)Gat>Tat	p.D957Y	HDAC9_ENST00000401921.1_Missense_Mutation_p.D916Y|HDAC9_ENST00000406451.4_Missense_Mutation_p.D957Y|HDAC9_ENST00000441542.2_Missense_Mutation_p.D960Y	NM_058176.2	NP_478056.1	Q9UKV0	HDAC9_HUMAN	histone deacetylase 9	957	Histone deacetylase.				B cell activation (GO:0042113)|B cell differentiation (GO:0030183)|cellular response to insulin stimulus (GO:0032869)|heart development (GO:0007507)|histone deacetylation (GO:0016575)|histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|inflammatory response (GO:0006954)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|peptidyl-lysine deacetylation (GO:0034983)|positive regulation of cell migration involved in sprouting angiogenesis (GO:0090050)|regulation of skeletal muscle fiber development (GO:0048742)|regulation of striated muscle cell differentiation (GO:0051153)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|histone deacetylase complex (GO:0000118)|histone methyltransferase complex (GO:0035097)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|protein deacetylase activity (GO:0033558)|protein kinase C binding (GO:0005080)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82	all_lung(11;0.187)				Valproic Acid(DB00313)	AGGAGGACATGATCTCACAGC	0.423																																						ENST00000406451.3																			0				breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82						c.(2869-2871)Gat>Tat		histone deacetylase 9	Valproic Acid(DB00313)						210	205	206					7																	18975506		1957	4156	6113	SO:0001583	missense	9734				B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex	histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity	g.chr7:18975506G>T	AF124924	CCDS47553.1, CCDS47554.1, CCDS47555.1, CCDS47557.1, CCDS56465.1, CCDS56466.1, CCDS56467.1, CCDS56468.1, CCDS75565.1	7p21.1	2008-05-15			ENSG00000048052	ENSG00000048052			14065	protein-coding gene	gene with protein product		606543				10523670, 10487760	Standard	NM_178425		Approved	KIAA0744, HDAC, MITR, HD7, HDAC7B	uc003sui.3	Q9UKV0	OTTHUMG00000152487	ENST00000432645.2:c.2869G>T	7.37:g.18975506G>T	ENSP00000410337:p.Asp957Tyr					HDAC9_ENST00000441542.2_Missense_Mutation_p.D960Y|HDAC9_ENST00000432645.2_Missense_Mutation_p.D957Y|HDAC9_ENST00000401921.1_Missense_Mutation_p.D916Y	p.D957Y	NM_178423.1|NM_178425.2	NP_848510.1|NP_848512.1	Q9UKV0	HDAC9_HUMAN			23	3019	+	all_lung(11;0.187)		957			Histone deacetylase.		A7E2F3|B7Z4I4|B7Z917|B7Z928|B7Z940|C9JS87|E7EX34|F8W9E0|O94845|O95028|Q2M2R6|Q86SL1|Q86US3	Missense_Mutation	SNP	ENST00000432645.2	37	c.2869G>T	CCDS47555.1	.	.	.	.	.	.	.	.	.	.	G	27.2	4.805830	0.90623	.	.	ENSG00000048052	ENST00000406451;ENST00000401921;ENST00000432645;ENST00000441542;ENST00000341009	T;T;T;T	0.71222	-0.55;-0.55;-0.55;-0.55	5.81	5.81	0.92471	Histone deacetylase domain (2);	0.000000	0.64402	D	0.000006	D	0.89715	0.6795	H	0.95365	3.66	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.83275	0.996;0.97;0.97;0.983;0.97	D	0.91986	0.5599	10	0.87932	D	0	-16.3427	20.0661	0.97704	0.0:0.0:1.0:0.0	.	205;916;960;957;957	Q8N926;Q9UKV0-6;Q9UKV0-7;Q9UKV0;Q9UKV0-5	.;.;.;HDAC9_HUMAN;.	Y	957;916;957;960;869	ENSP00000384657:D957Y;ENSP00000383912:D916Y;ENSP00000410337:D957Y;ENSP00000408617:D960Y	ENSP00000339165:D869Y	D	+	1	0	HDAC9	18942031	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.739000	0.93911	0.563000	0.77884	GAT		0.423	HDAC9-023	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000376176.1			18	220	1	0	8.00594e-06	0.000958276	0.000116495	18	220					T	18975506	G	T	18975506	3	4	200	1	0	0	0	0	1	0	0	0	7014	1290	45	5	3077	5	HDAC9	7	18975506	Missense_Mutation	SNP	G	TCGA-HC-7081-01A-11D-1961-08		18975506	140163157	18	9249											
KRIT1	889	broad.mit.edu	37	chr7	91864869	91864869	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tgattcagtagcatatgcagGatttatgacattagttttta	12	17	8	4	0	1	2	1	2	0	0	1	3	1	3	0	1	2	4	0	1	5	9			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr7:91864869G>A	ENST00000340022.2	-	8	1595	c.577C>T	c.(577-579)Cct>Tct	p.P193S	KRIT1_ENST00000394507.1_Missense_Mutation_p.P193S|KRIT1_ENST00000412043.2_Missense_Mutation_p.P193S|KRIT1_ENST00000394503.2_Missense_Mutation_p.P193S|KRIT1_ENST00000394505.2_Missense_Mutation_p.P193S	NM_004912.3|NM_194455.1	NP_004903.2|NP_919437.1	O00522	KRIT1_HUMAN	KRIT1, ankyrin repeat containing	193	Interaction with ITGB1BP1.				angiogenesis (GO:0001525)|cell redox homeostasis (GO:0045454)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|positive regulation of protein binding (GO:0032092)|regulation of catalytic activity (GO:0050790)|regulation of establishment of cell polarity (GO:2000114)|small GTPase mediated signal transduction (GO:0007264)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|microtubule (GO:0005874)|plasma membrane (GO:0005886)	microtubule binding (GO:0008017)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein complex binding (GO:0032403)|small GTPase regulator activity (GO:0005083)			autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(2)|stomach(1)	22	all_cancers(62;1.04e-09)|all_epithelial(64;5.75e-09)|Breast(17;0.00206)|all_lung(186;0.0509)|Lung NSC(181;0.0692)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			GCATATGCAGGATTTATGACA	0.393																																						ENST00000394507.1																			0				autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(2)|stomach(1)	22						c.(577-579)Cct>Tct		KRIT1, ankyrin repeat containing							165	159	161					7																	91864869		2203	4300	6503	SO:0001583	missense	889				angiogenesis|cell redox homeostasis|negative regulation of angiogenesis|negative regulation of endothelial cell apoptosis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|regulation of establishment of cell polarity|small GTPase mediated signal transduction	cell-cell junction|cytoskeleton	protein binding|small GTPase regulator activity	g.chr7:91864869G>A	AJ294850	CCDS5624.1, CCDS34679.1	7q21.2	2014-09-17	2005-03-15	2005-03-17	ENSG00000001631	ENSG00000001631		"Ankyrin repeat domain containing"	1573	protein-coding gene	gene with protein product		604214	"cerebral cavernous malformations 1"	CCM1		7604043, 11342228	Standard	NM_194455		Approved	CAM	uc003ulu.1	O00522	OTTHUMG00000131187	ENST00000340022.2:c.577C>T	7.37:g.91864869G>A	ENSP00000344668:p.Pro193Ser					KRIT1_ENST00000394505.2_Missense_Mutation_p.P193S|KRIT1_ENST00000412043.2_Missense_Mutation_p.P193S|KRIT1_ENST00000340022.2_Missense_Mutation_p.P193S|KRIT1_ENST00000394503.2_Missense_Mutation_p.P193S	p.P193S	NM_194456.1	NP_919438.1	O00522	KRIT1_HUMAN	STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)		9	1360	-	all_cancers(62;1.04e-09)|all_epithelial(64;5.75e-09)|Breast(17;0.00206)|all_lung(186;0.0509)|Lung NSC(181;0.0692)		193					A6NNU0|O43894|Q506L6|Q6U276|Q75N19|Q9H180|Q9H264|Q9HAX5	Missense_Mutation	SNP	ENST00000340022.2	37	c.577C>T	CCDS5624.1	.	.	.	.	.	.	.	.	.	.	G	32	5.113387	0.94339	.	.	ENSG00000001631	ENST00000394507;ENST00000340022;ENST00000412043;ENST00000394505;ENST00000394503;ENST00000415227;ENST00000458177	T;T;T;T;D;D	0.95821	-1.38;-1.38;-1.38;-1.38;-2.04;-3.82	5.21	5.21	0.72293	.	0.000000	0.85682	D	0.000000	D	0.96278	0.8786	L	0.34521	1.04	0.80722	D	1	D;D	0.69078	0.988;0.997	P;D	0.75484	0.815;0.986	D	0.97261	0.9904	10	0.87932	D	0	0.94	18.7703	0.91888	0.0:0.0:1.0:0.0	.	193;193	A6NNU0;O00522	.;KRIT1_HUMAN	S	193	ENSP00000378015:P193S;ENSP00000344668:P193S;ENSP00000410909:P193S;ENSP00000378013:P193S;ENSP00000378011:P193S;ENSP00000391675:P193S	ENSP00000344668:P193S	P	-	1	0	KRIT1	91702805	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.476000	0.97823	2.416000	0.81992	0.460000	0.39030	CCT		0.393	KRIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253910.1			7	103	0	0	0	0.000274275	0	7	103					A	91864869	G	A	91864869	3	1	200	1	0	0	0	0	1	0	0	0	8445	1174	41	3	1681	3	KRIT1	7	91864869	Missense_Mutation	SNP	G	TCGA-HC-7081-01A-11D-1961-08	72889363	91864869	67273794	19	9250											
COL1A2	1278	broad.mit.edu	37	chr7	94037158	94037158	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	actcaatccttctccatgtaGggtgaacctggtgcccctgg	7	11	10	13	0	2	1	1	1	1	0	4	1	3	1	5	3	2	1	5	3	3	2			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr7:94037158G>A	ENST00000297268.6	+	13	1065		c.e13-1			NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	collagen, type I, alpha 2						blood coagulation (GO:0007596)|blood vessel development (GO:0001568)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|leukocyte migration (GO:0050900)|odontogenesis (GO:0042476)|platelet activation (GO:0030168)|protein heterotrimerization (GO:0070208)|regulation of blood pressure (GO:0008217)|Rho protein signal transduction (GO:0007266)|skeletal system development (GO:0001501)|skin morphogenesis (GO:0043589)|transforming growth factor beta receptor signaling pathway (GO:0007179)	collagen type I trimer (GO:0005584)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	extracellular matrix structural constituent (GO:0005201)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|protein binding, bridging (GO:0030674)		COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	TCTCCATGTAGGGTGAACCTG	0.323										HNSCC(75;0.22)																												ENST00000297268.6																		COL1A2/PLAG1(3)	0				NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115						c.e13-1		collagen, type I, alpha 2	Collagenase(DB00048)						69	66	67					7																	94037158		2203	4300	6503	SO:0001630	splice_region_variant	1278				axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging	g.chr7:94037158G>A	Z74616	CCDS34682.1	7q21.3	2014-09-17	2002-02-13		ENSG00000164692	ENSG00000164692		"Collagens"	2198	protein-coding gene	gene with protein product	"alpha 2(I)-collagen", "alpha-2 collagen type I", "type I procollagen", "collagen I, alpha-2 polypeptide", "collagen of skin, tendon and bone, alpha-2 chain"	120160	"osteogenesis imperfecta type IV"	OI4		3857213, 2897363	Standard	NM_000089		Approved		uc003ung.1	P08123	OTTHUMG00000148675	ENST00000297268.6:c.595-1G>A	7.37:g.94037158G>A		HNSCC(75;0.22)						NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	STAD - Stomach adenocarcinoma(171;0.0031)		13	1065	+	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)							P02464|Q13897|Q13997|Q13998|Q14038|Q14057|Q15177|Q15947|Q16480|Q16511|Q7Z5S6|Q9UEB6|Q9UEF9|Q9UM83|Q9UMI1|Q9UML5|Q9UMM6|Q9UPH0	Splice_Site	SNP	ENST00000297268.6	37		CCDS34682.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.062916	0.76187	.	.	ENSG00000164692	ENST00000297268;ENST00000545487	.	.	.	5.73	4.83	0.62350	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.8794	0.86060	0.0:0.1284:0.8716:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	COL1A2	93875094	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.183000	0.94887	1.521000	0.48983	0.650000	0.86243	.		0.323	COL1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309045.2	NM_000089	Intron	5	27	0	0	0	0.00116845	0	5	27					A	94037158	G	A	94037158	5	1	200	1	0	0	0	0	0	0	1	0	3678	1014	35	3	644	3	COL1A2	7	94037158	Splice_Site	SNP	G	TCGA-HC-7081-01A-11D-1961-08	2172289	94037158	65101505	20	9251											
OR2A12	346525	broad.mit.edu	37	chr7	143793017	143793017	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcaagaacggaggaagatcCtttccctgttttacagcctt	10	12	8	11	1	1	2	1	0	0	2	3	4	3	4	3	2	3	1	3	2	4	4			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr7:143793017C>T	ENST00000408949.2	+	1	877	c.817C>T	c.(817-819)Ctt>Ttt	p.L273F		NM_001004135.1	NP_001004135.1	Q8NGT7	O2A12_HUMAN	olfactory receptor, family 2, subfamily A, member 12	273						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)	25	Melanoma(164;0.0783)					GAGGAAGATCCTTTCCCTGTT	0.522																																						ENST00000408949.2																			0				breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)	25						c.(817-819)Ctt>Ttt		olfactory receptor, family 2, subfamily A, member 12							207	199	201					7																	143793017		1912	4138	6050	SO:0001583	missense	346525				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr7:143793017C>T		CCDS43670.1	7q35	2013-09-20	2002-11-13	2002-11-13	ENSG00000221858	ENSG00000221858		"GPCR / Class A : Olfactory receptors"	15082	protein-coding gene	gene with protein product			"olfactory receptor, family 2, subfamily A, member 12 pseudogene"	OR2A12P			Standard	NM_001004135		Approved		uc011kty.2	Q8NGT7	OTTHUMG00000157996	ENST00000408949.2:c.817C>T	7.37:g.143793017C>T	ENSP00000386174:p.Leu273Phe						p.L273F	NM_001004135.1	NP_001004135.1	Q8NGT7	O2A12_HUMAN			1	877	+	Melanoma(164;0.0783)		273					Q6IF43	Missense_Mutation	SNP	ENST00000408949.2	37	c.817C>T	CCDS43670.1	.	.	.	.	.	.	.	.	.	.	C	11.62	1.691634	0.30052	.	.	ENSG00000221858	ENST00000408949	T	0.38401	1.14	4.33	1.54	0.23209	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.35799	0.0944	L	0.39020	1.185	0.09310	N	1	P	0.36712	0.566	P	0.47470	0.548	T	0.31336	-0.9947	9	0.56958	D	0.05	-15.1335	6.2571	0.20879	0.0:0.5767:0.0:0.4233	.	273	Q8NGT7	O2A12_HUMAN	F	273	ENSP00000386174:L273F	ENSP00000386174:L273F	L	+	1	0	OR2A12	143423950	0.000000	0.05858	0.001000	0.08648	0.518000	0.34316	-0.345000	0.07770	0.128000	0.18479	0.505000	0.49811	CTT		0.522	OR2A12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349969.1			80	216	0	0	0	0.000781405	0	80	216					T	143793017	C	T	143793017	3	4	200	1	0	0	0	0	1	0	0	0	10975	681	24	3	819	3	OR2A12	7	143793017	Missense_Mutation	SNP	C	TCGA-HC-7081-01A-11D-1961-08	49755859	143793017	15345646	21	9252											
HTR5A	3361	broad.mit.edu	37	chr7	154875945	154875945	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttccagccagaaggggacacGtggcgggagcagaaggagca	12	3	17	9	2	0	2	0	0	0	2	1	5	1	5	2	5	3	2	2	5	2	1	rs572459769		TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr7:154875945G>A	ENST00000287907.2	+	2	1398	c.822G>A	c.(820-822)acG>acA	p.T274T	HTR5A_ENST00000486819.1_3'UTR	NM_024012.3	NP_076917.1	P47898	5HT5A_HUMAN	5-hydroxytryptamine (serotonin) receptor 5A, G protein-coupled	274					cAMP-mediated signaling (GO:0019933)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|hippocampus development (GO:0021766)|response to estradiol (GO:0032355)|serotonin receptor signaling pathway (GO:0007210)	dendrite (GO:0030425)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)	serotonin receptor activity (GO:0004993)			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(3)|stomach(1)	48	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.0238)	UCEC - Uterine corpus endometrioid carcinoma (81;0.171)	Asenapine(DB06216)|Loxapine(DB00408)|Olanzapine(DB00334)	AAGGGGACACGTGGCGGGAGC	0.607																																						ENST00000287907.2																			0				NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(3)|stomach(1)	48						c.(820-822)acG>acA		5-hydroxytryptamine (serotonin) receptor 5A, G protein-coupled							95	76	82					7																	154875945		2203	4300	6503	SO:0001819	synonymous_variant	3361					integral to plasma membrane	serotonin receptor activity	g.chr7:154875945G>A		CCDS5936.1	7q36.1	2012-08-08	2012-02-03		ENSG00000157219	ENSG00000157219		"5-HT (serotonin) receptors", "GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"	5300	protein-coding gene	gene with protein product		601305	"5-hydroxytryptamine (serotonin) receptor 5A"			7988681	Standard	NM_024012		Approved	5-HT5A	uc003wlu.2	P47898	OTTHUMG00000151327	ENST00000287907.2:c.822G>A	7.37:g.154875945G>A						HTR5A_ENST00000486819.1_3'UTR	p.T274T	NM_024012.3	NP_076917.1	P47898	5HT5A_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0238)	UCEC - Uterine corpus endometrioid carcinoma (81;0.171)	2	1398	+	all_neural(206;0.119)	all_hematologic(28;0.0592)	274					Q2M2D2	Silent	SNP	ENST00000287907.2	37	c.822G>A	CCDS5936.1																																																																																				0.607	HTR5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322240.1	NM_024012		13	39	0	0	0	0.00185496	0	13	39					A	154875945	G	A	154875945	2	1	200	1	0	0	0	0	0	0	0	1	7450	1132	40	1		1	HTR5A	7	154875945	Silent	SNP	G	TCGA-HC-7081-01A-11D-1961-08	11082928	154875945	4262718	22	9253											
MAMDC2	256691	broad.mit.edu	37	chr9	72755164	72755164	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tggacccgagtgaaagtaaaAccaaacatgtatcgggctgg	14	7	12	8	2	0	1	0	1	0	0	1	3	0	2	2	3	2	3	2	3	5	2			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr9:72755164A>T	ENST00000377182.4	+	8	1715	c.1098A>T	c.(1096-1098)aaA>aaT	p.K366N	MAMDC2-AS1_ENST00000591368.1_RNA	NM_153267.4	NP_694999.3	Q7Z304	MAMC2_HUMAN	MAM domain containing 2	366	MAM 3. {ECO:0000255|PROSITE- ProRule:PRU00128}.				peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)	endoplasmic reticulum (GO:0005783)|interstitial matrix (GO:0005614)|membrane (GO:0016020)	glycosaminoglycan binding (GO:0005539)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)	14						TGAAAGTAAAACCAAACATGT	0.463																																						ENST00000377182.4																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)	14						c.(1096-1098)aaA>aaT		MAM domain containing 2							140	130	133					9																	72755164		2203	4300	6503	SO:0001583	missense	256691					endoplasmic reticulum|membrane		g.chr9:72755164A>T	BC040299	CCDS6631.1	9q21.2	2008-02-05			ENSG00000165072	ENSG00000165072			23673	protein-coding gene	gene with protein product		612879					Standard	NM_153267		Approved	MGC21981	uc004ahm.2	Q7Z304	OTTHUMG00000019990	ENST00000377182.4:c.1098A>T	9.37:g.72755164A>T	ENSP00000366387:p.Lys366Asn					MAMDC2-AS1_ENST00000591368.1_RNA	p.K366N	NM_153267.4	NP_694999.3	Q7Z304	MAMC2_HUMAN			8	1715	+			366			MAM 3.		Q5VW47|Q8WX43|Q96BM4	Missense_Mutation	SNP	ENST00000377182.4	37	c.1098A>T	CCDS6631.1	.	.	.	.	.	.	.	.	.	.	A	23.6	4.431009	0.83776	.	.	ENSG00000165072	ENST00000377182	T	0.02177	4.41	6.02	-3.09	0.05331	Concanavalin A-like lectin/glucanase (1);MAM domain (3);	0.081948	0.85682	D	0.000000	T	0.05914	0.0154	L	0.57536	1.79	0.46901	D	0.999242	P	0.50617	0.937	P	0.59643	0.861	T	0.10941	-1.0608	10	0.23302	T	0.38	-18.6317	13.5162	0.61541	0.4347:0.0:0.5653:0.0	.	366	Q7Z304	MAMC2_HUMAN	N	366	ENSP00000366387:K366N	ENSP00000366387:K366N	K	+	3	2	MAMDC2	71944984	1.000000	0.71417	0.991000	0.47740	0.997000	0.91878	0.841000	0.27613	-0.302000	0.08869	0.533000	0.62120	AAA		0.463	MAMDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052600.1	NM_153267		7	127	0	0	0	0.000442599	0	7	127					T	72755164	A	T	72755164	3	4	200	1	0	0	0	0	1	0	0	0	9203	40	2	5	1128	5	MAMDC2	9	72755164	Missense_Mutation	SNP	A	TCGA-HC-7081-01A-11D-1961-08		72755164	68458267	23	9254											
AKAP2	11217	broad.mit.edu	37	chr9	112899835	112899835	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggatggagaatttacgagcGcccgggctgtcctcactgtg	8	9	14	10	3	1	1	1	0	0	1	2	4	2	2	2	3	2	1	2	3	2	2	rs147886830		TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr9:112899835G>A	ENST00000259318.7	+	2	1525	c.1318G>A	c.(1318-1320)Gcc>Acc	p.A440T	AKAP2_ENST00000434623.2_Missense_Mutation_p.A529T|PALM2-AKAP2_ENST00000302798.7_Missense_Mutation_p.A671T|PALM2-AKAP2_ENST00000374530.3_Missense_Mutation_p.A671T|AKAP2_ENST00000510514.5_Missense_Mutation_p.A671T|AKAP2_ENST00000555236.1_Missense_Mutation_p.A671T|AKAP2_ENST00000374525.1_Missense_Mutation_p.A529T	NM_001136562.2	NP_001130034.1	Q9Y2D5	AKAP2_HUMAN	A kinase (PRKA) anchor protein 2	440										breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	33						ATTTACGAGCGCCCGGGCTGT	0.537																																						ENST00000374530.3																			0				breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	44						c.(2011-2013)Gcc>Acc				G	THR/ALA,THR/ALA,THR/ALA,THR/ALA,THR/ALA	1,4405	2.1+/-5.4	0,1,2202	92	94	93		1585,1318,1585,2011,2011	5.9	1	9	dbSNP_134	93	4,8596	4.3+/-15.6	0,4,4296	yes	missense,missense,missense,missense,missense	AKAP2,PALM2-AKAP2	NM_001004065.4,NM_001136562.2,NM_001198656.1,NM_007203.4,NM_147150.2	58,58,58,58,58	0,5,6498	AA,AG,GG		0.0465,0.0227,0.0384	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	529/949,440/860,529/962,671/1104,671/1091	112899835	5,13001	2203	4300	6503	SO:0001583	missense	0						enzyme binding	g.chr9:112899835G>A	AB023137	CCDS43861.1, CCDS48003.1, CCDS56581.1	9q31.3	2009-10-16			ENSG00000241978	ENSG00000241978		"A-kinase anchor proteins"	372	protein-coding gene	gene with protein product	"protein kinase A2"	604582		PRKA2		10231032	Standard	NM_001136562		Approved	AKAP-KL, KIAA0920, DKFZp564L0716		Q9Y2D5	OTTHUMG00000156811	ENST00000259318.7:c.1318G>A	9.37:g.112899835G>A	ENSP00000259318:p.Ala440Thr					AKAP2_ENST00000434623.2_Missense_Mutation_p.A529T|AKAP2_ENST00000374525.1_Missense_Mutation_p.A529T|AKAP2_ENST00000259318.7_Missense_Mutation_p.A440T|PALM2-AKAP2_ENST00000302798.7_Missense_Mutation_p.A671T|AKAP2_ENST00000510514.5_Missense_Mutation_p.A671T|AKAP2_ENST00000555236.1_Missense_Mutation_p.A671T	p.A671T	NM_007203.4|NM_147150.2	NP_009134.1|NP_671492.1	Q9Y2D5	AKAP2_HUMAN			8	2191	+			440					B1ALX9|B2RTU4|B3KQ00|B4DTZ2|B7ZW07|B9EJB5|Q9UG26	Missense_Mutation	SNP	ENST00000259318.7	37	c.2011G>A	CCDS48003.1	.	.	.	.	.	.	.	.	.	.	G	18.56	3.650444	0.67472	2.27E-4	4.65E-4	ENSG00000157654;ENSG00000157654;ENSG00000241978;ENSG00000241978;ENSG00000241978;ENSG00000241978;ENSG00000241978;ENSG00000241978	ENST00000374530;ENST00000302798;ENST00000555236;ENST00000510514;ENST00000434623;ENST00000374525;ENST00000480388;ENST00000259318	T;T;T;T;T;T;T;T	0.60171	1.57;1.58;1.57;1.58;0.84;0.24;0.21;0.87	5.86	5.86	0.93980	.	0.050238	0.85682	D	0.000000	T	0.62950	0.2470	L	0.32530	0.975	0.80722	D	1	P;D;P;D;P;D;D;D	0.69078	0.944;0.964;0.923;0.964;0.939;0.997;0.997;0.996	B;P;B;P;B;P;P;P	0.54706	0.331;0.454;0.148;0.454;0.266;0.759;0.759;0.579	T	0.64993	-0.6276	10	0.72032	D	0.01	-21.8755	19.1609	0.93531	0.0:0.0:1.0:0.0	.	440;529;523;529;530;671;671;489	Q9Y2D5;Q9Y2D5-7;B4E2K2;Q9Y2D5-5;B1ALY1;Q9Y2D5-6;Q9Y2D5-4;C9JVY5	AKAP2_HUMAN;.;.;.;.;.;.;.	T	671;671;671;671;529;529;489;440	ENSP00000363654:A671T;ENSP00000305861:A671T;ENSP00000451476:A671T;ENSP00000421522:A671T;ENSP00000404782:A529T;ENSP00000363649:A529T;ENSP00000419268:A489T;ENSP00000259318:A440T	ENSP00000259318:A440T	A	+	1	0	PALM2-AKAP2;AKAP2	111939656	1.000000	0.71417	0.963000	0.40424	0.769000	0.43574	9.144000	0.94629	2.757000	0.94681	0.655000	0.94253	GCC		0.537	AKAP2-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000346067.3	NM_001004065		33	88	0	0	0	0.00283554	0	33	88					A	112899835	G	A	112899835	3	1	200	1	0	0	0	0	1	0	0	0	451	1087	38	1	1591	1	AKAP2	9	112899835	Missense_Mutation	SNP	G	TCGA-HC-7081-01A-11D-1961-08	40144671	112899835	28313596	24	9255											
SLC3A2	6520	broad.mit.edu	37	chr11	62649502	62649502	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccaattttggctccaaggaaGattttgacagtctcttgcaa	11	13	8	9	0	1	2	0	1	1	1	3	3	2	3	2	2	1	2	2	2	4	5			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr11:62649502G>A	ENST00000377890.2	+	5	1033	c.865G>A	c.(865-867)Gat>Aat	p.D289N	SLC3A2_ENST00000377891.2_Missense_Mutation_p.D290N|SLC3A2_ENST00000377892.1_Missense_Mutation_p.D320N|SLC3A2_ENST00000536981.1_5'UTR|SLC3A2_ENST00000338663.7_Missense_Mutation_p.D188N|SLC3A2_ENST00000535296.1_Missense_Mutation_p.D258N|SLC3A2_ENST00000377889.2_Missense_Mutation_p.D227N|SLC3A2_ENST00000538682.1_3'UTR	NM_002394.5	NP_002385.3	P08195	4F2_HUMAN	solute carrier family 3 (amino acid transporter heavy chain), member 2	289					amino acid transport (GO:0006865)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|carbohydrate metabolic process (GO:0005975)|cell growth (GO:0016049)|ion transport (GO:0006811)|leucine import (GO:0060356)|leukocyte migration (GO:0050900)|response to exogenous dsRNA (GO:0043330)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|tryptophan transport (GO:0015827)	cell junction (GO:0030054)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium:sodium antiporter activity (GO:0005432)|catalytic activity (GO:0003824)|cation binding (GO:0043169)|double-stranded RNA binding (GO:0003725)|neutral amino acid transmembrane transporter activity (GO:0015175)|poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(3)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)	22						CTCCAAGGAAGATTTTGACAG	0.488																																						ENST00000377892.1																			0				endometrium(1)|kidney(3)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)	22						c.(958-960)Gat>Aat		solute carrier family 3 (amino acid transporter heavy chain), member 2							108	101	103					11																	62649502		2201	4298	6499	SO:0001583	missense	6520				blood coagulation|carbohydrate metabolic process|cell growth|cellular nitrogen compound metabolic process|leucine import|leukocyte migration|tryptophan transport	apical plasma membrane|cell surface|integral to membrane|melanosome	calcium:sodium antiporter activity|catalytic activity|cation binding|neutral amino acid transmembrane transporter activity|protein binding	g.chr11:62649502G>A		CCDS8039.2, CCDS31588.1, CCDS31589.1, CCDS31590.1	11q12-q22	2013-07-19	2013-07-19		ENSG00000168003	ENSG00000168003		"Solute carriers"	11026	protein-coding gene	gene with protein product	"antigen identified by monoclonal antibodies 4F2, TRA1.10, TROP4, and T43", "antigen defined by monoclonal antibody 4F2", "heavy chain", "4F2 heavy chain", "CD98 heavy chain", "monoclonal antibody 44D7", "4F2 cell-surface antigen heavy chain", "lymphocyte activation antigen 4F2 large subunit"	158070	"solute carrier family 3 (activators of dibasic and neutral amino acid transport), member 2"	MDU1		3036867	Standard	NM_001012662		Approved	4T2HC, 4F2, NACAE, CD98, CD98HC, 4F2HC	uc001nwd.3	P08195	OTTHUMG00000074091	ENST00000377890.2:c.865G>A	11.37:g.62649502G>A	ENSP00000367122:p.Asp289Asn					SLC3A2_ENST00000377890.2_Missense_Mutation_p.D289N|SLC3A2_ENST00000377891.2_Missense_Mutation_p.D290N|SLC3A2_ENST00000377889.2_Missense_Mutation_p.D227N|SLC3A2_ENST00000535296.1_Missense_Mutation_p.D258N|SLC3A2_ENST00000338663.7_Missense_Mutation_p.D188N|SLC3A2_ENST00000538682.1_3'UTR|SLC3A2_ENST00000536981.1_5'UTR	p.D320N			P08195	4F2_HUMAN			6	1182	+			289	S -> F (in Ref. 5; AAA35489).				Q13543	Missense_Mutation	SNP	ENST00000377890.2	37	c.958G>A	CCDS8039.2	.	.	.	.	.	.	.	.	.	.	G	29.8	5.034530	0.93575	.	.	ENSG00000168003	ENST00000377892;ENST00000377891;ENST00000377890;ENST00000542007;ENST00000377889;ENST00000535296;ENST00000338663;ENST00000539458;ENST00000422606	D;D;D;D;D;D;D	0.99014	-5.33;-5.33;-5.33;-5.33;-5.33;-5.33;-5.33	5.53	5.53	0.82687	Glycoside hydrolase, subgroup, catalytic domain (1);Glycosyl hydrolase, family 13, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.278145	0.40640	N	0.001048	D	0.99086	0.9686	M	0.90145	3.09	0.41923	D	0.990526	P;P;P;P;P	0.52692	0.955;0.9;0.87;0.91;0.911	P;P;P;P;P	0.54238	0.49;0.458;0.7;0.58;0.746	D	0.99257	1.0889	10	0.72032	D	0.01	-9.5141	12.6852	0.56944	0.0:0.1657:0.8343:0.0	.	227;258;289;188;320	P08195-3;F5GZS6;P08195;P08195-2;P08195-4	.;.;4F2_HUMAN;.;.	N	320;290;289;290;227;258;188;144;170	ENSP00000367124:D320N;ENSP00000367123:D290N;ENSP00000367122:D289N;ENSP00000367121:D227N;ENSP00000444236:D258N;ENSP00000340815:D188N;ENSP00000438032:D144N	ENSP00000340815:D188N	D	+	1	0	SLC3A2	62406078	0.998000	0.40836	1.000000	0.80357	0.984000	0.73092	1.940000	0.40223	2.605000	0.88082	0.655000	0.94253	GAT		0.488	SLC3A2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000157306.1	NM_001012661		19	65	0	0	0	0.000958276	0	19	65					A	62649502	G	A	62649502	3	1	200	1	0	0	0	0	1	0	0	0	14627	942	33	3	983	3	SLC3A2	11	62649502	Missense_Mutation	SNP	G	TCGA-HC-7081-01A-11D-1961-08		62649502	72357014	25	9256											
HMBS	3145	broad.mit.edu	37	chr11	118959361	118959361	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagcttgctcgcatacagaCggacagtgtggtggcaacat	10	8	13	10	2	0	1	0	0	0	1	1	2	0	2	0	3	4	5	0	3	2	2			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr11:118959361C>T	ENST00000278715.3	+	3	255	c.104C>T	c.(103-105)aCg>aTg	p.T35M	HMBS_ENST00000537841.1_Missense_Mutation_p.T18M|HMBS_ENST00000442944.2_Missense_Mutation_p.T18M|HMBS_ENST00000543090.1_Missense_Mutation_p.T17M|HMBS_ENST00000534956.1_3'UTR|HMBS_ENST00000544387.1_Missense_Mutation_p.T35M|HMBS_ENST00000392841.1_Missense_Mutation_p.T18M|HMBS_ENST00000542729.1_Missense_Mutation_p.T18M	NM_000190.3	NP_000181.2	P08397	HEM3_HUMAN	hydroxymethylbilane synthase	35			T -> M (in AIP). {ECO:0000269|PubMed:11013452}.		heme biosynthetic process (GO:0006783)|peptidyl-pyrromethane cofactor linkage (GO:0018160)|porphyrin-containing compound metabolic process (GO:0006778)|protoporphyrinogen IX biosynthetic process (GO:0006782)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	hydroxymethylbilane synthase activity (GO:0004418)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|urinary_tract(1)	15	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.72e-05)		CGCATACAGACGGACAGTGTG	0.522																																						ENST00000537841.1																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|urinary_tract(1)	15	GRCh37	CM002609	HMBS	M		c.(52-54)aCg>aTg		hydroxymethylbilane synthase							153	133	140					11																	118959361		2200	4295	6495	SO:0001583	missense	3145				peptidyl-pyrromethane cofactor linkage	cytosol	hydroxymethylbilane synthase activity	g.chr11:118959361C>T	X04808	CCDS8409.1, CCDS41726.1, CCDS58186.1, CCDS58187.1	11q23.3	2013-07-10			ENSG00000256269	ENSG00000256269	2.5.1.61		4982	protein-coding gene	gene with protein product		609806	"uroporphyrinogen I synthase", "porphobilinogen deaminase", "porphyria, acute; Chester type"	PBGD, UPS, PORC		8432552, 17298217	Standard	NM_001258208		Approved		uc001puz.1	P08397	OTTHUMG00000168295	ENST00000278715.3:c.104C>T	11.37:g.118959361C>T	ENSP00000278715:p.Thr35Met					HMBS_ENST00000534956.1_3'UTR|HMBS_ENST00000392841.1_Missense_Mutation_p.T18M|HMBS_ENST00000278715.3_Missense_Mutation_p.T35M|HMBS_ENST00000543090.1_Missense_Mutation_p.T17M|HMBS_ENST00000442944.2_Missense_Mutation_p.T18M|HMBS_ENST00000542729.1_Missense_Mutation_p.T18M|HMBS_ENST00000544387.1_Missense_Mutation_p.T35M	p.T18M			P08397	HEM3_HUMAN		BRCA - Breast invasive adenocarcinoma(274;7.72e-05)	3	344	+	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)	35		M -> I (in AIP).			A8K2L0|G3V1P4|G5EA58|P08396|Q16012	Missense_Mutation	SNP	ENST00000278715.3	37	c.53C>T	CCDS8409.1	.	.	.	.	.	.	.	.	.	.	C	19.49	3.838265	0.71373	.	.	ENSG00000256269;ENSG00000256269;ENSG00000256269;ENSG00000256269;ENSG00000256269;ENSG00000256269;ENSG00000256269;ENSG00000256269;ENSG00000256269;ENSG00000256269;ENSG00000149397	ENST00000278715;ENST00000536813;ENST00000537841;ENST00000542729;ENST00000546302;ENST00000544387;ENST00000543090;ENST00000539986;ENST00000535253;ENST00000392841;ENST00000442944	D;D;D;D;D;D;D;D;D;D;D	0.99737	-6.59;-6.59;-6.59;-6.59;-6.59;-6.59;-6.59;-6.59;-6.59;-6.59;-6.59	4.96	4.96	0.65561	Porphobilinogen deaminase, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.99843	0.9928	H	0.97659	4.05	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;0.996;1.0	D	0.96648	0.9479	10	0.87932	D	0	-11.7763	17.3661	0.87364	0.0:1.0:0.0:0.0	.	18;17;35;35	G3V1P4;F5H345;G5EA58;P08397	.;.;.;HEM3_HUMAN	M	35;35;18;18;35;35;17;18;18;18;18	ENSP00000278715:T35M;ENSP00000438726:T35M;ENSP00000444730:T18M;ENSP00000443058:T18M;ENSP00000445599:T35M;ENSP00000438424:T35M;ENSP00000445429:T17M;ENSP00000440092:T18M;ENSP00000442079:T18M;ENSP00000376584:T18M;ENSP00000392041:T18M	ENSP00000392041:T18M	T	+	2	0	CTD-2589C9.4;HMBS	118464571	1.000000	0.71417	0.999000	0.59377	0.991000	0.79684	6.904000	0.75708	2.592000	0.87571	0.561000	0.74099	ACG		0.522	HMBS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399188.1	NM_000190		13	98	0	0	0	0.000958276	0	13	98					T	118959361	C	T	118959361	3	4	200	1	0	0	0	0	1	0	0	0	7219	536	19	1	114	1	HMBS	11	118959361	Missense_Mutation	SNP	C	TCGA-HC-7081-01A-11D-1961-08	56309859	118959361	16047155	26	9257											
NT5DC3	51559	broad.mit.edu	37	chr12	104192373	104192374	+	Frame_Shift_Del	DEL	AA	AA	-																															gcttctcattacctttccgtAaaagtcactcatctgctcca																										TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr12:104192373_104192374delAA	ENST00000392876.3	-	5	646_647	c.606_607delTT	c.(604-609)ttttacfs	p.FY202fs	NT5DC3_ENST00000465502.1_5'UTR	NM_001031701.2	NP_001026871.1	Q86UY8	NT5D3_HUMAN	5'-nucleotidase domain containing 3	202						cytosol (GO:0005829)|mitochondrion (GO:0005739)|receptor complex (GO:0043235)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(15)|ovary(2)|skin(1)|stomach(2)	30						ACCTTTCCGTAAAAGTCACTCA	0.441																																						ENST00000392876.3																			0				NS(1)|breast(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(15)|ovary(2)|skin(1)|stomach(2)	30						c.(604-609)ttacfs		5'-nucleotidase domain containing 3																																				SO:0001589	frameshift_variant	51559						hydrolase activity|metal ion binding	g.chr12:104192373_104192374delAA	AB032786	CCDS41824.1	12q22-q23.1	2006-02-03			ENSG00000111696	ENSG00000111696			30826	protein-coding gene	gene with protein product		611076					Standard	NM_001031701		Approved	TU12B1-TY, FLJ11266	uc010swe.1	Q86UY8	OTTHUMG00000157017	ENST00000392876.3:c.606_607delTT	12.37:g.104192375_104192376delAA	ENSP00000376615:p.Phe202fs					NT5DC3_ENST00000465502.1_5'UTR	p.FY202fs	NM_001031701.2	NP_001026871.1	Q86UY8	NT5D3_HUMAN			5	646_647	-			202					Q9NUM7|Q9P2T2|Q9P2T3	Frame_Shift_Del	DEL	ENST00000392876.3	37	c.606_607delTT	CCDS41824.1																																																																																				0.441	NT5DC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347118.2	NM_016575		8	89						8	89	---	---	---	---	-	104192374	AA	-	104192373	7	5	200	1	0	1	0	1	0	0	0	0	10692	362	13	0	1079	0	NT5DC3	12	104192373	Frame_Shift_Del	DEL	AA	TCGA-HC-7081-01A-11D-1961-08		104192373	29659522	27	9258											
KIAA0284	283638	broad.mit.edu	37	chr14	105354172	105354172	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caccagcttctctggccgcaGtgtggagttgtgctgtgcca	5	11	13	12	1	1	0	0	0	1	0	2	1	1	1	3	2	3	4	3	2	0	2			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr14:105354172G>A	ENST00000414716.3	+	12	3824	c.3596G>A	c.(3595-3597)aGt>aAt	p.S1199N	CEP170B_ENST00000418279.1_Missense_Mutation_p.S1129N|CEP170B_ENST00000453495.1_Missense_Mutation_p.S1200N|CEP170B_ENST00000556508.1_Missense_Mutation_p.S1129N	NM_001112726.2	NP_001106197.1	Q9Y4F5	C170B_HUMAN	centrosomal protein 170B	1199						cytoplasm (GO:0005737)|microtubule (GO:0005874)											TCTGGCCGCAGTGTGGAGTTG	0.692																																						ENST00000453495.1																			0											c.(3598-3600)aGt>aAt		centrosomal protein 170B							5	8	7					14																	105354172		1956	4068	6024	SO:0001583	missense	283638							g.chr14:105354172G>A	AB006622	CCDS45175.1, CCDS45176.1, CCDS45176.2	14q32.33	2014-02-20	2012-11-30	2012-11-30	ENSG00000099814	ENSG00000099814			20362	protein-coding gene	gene with protein product	"Cep170-related"		"KIAA0284"	KIAA0284		23087211	Standard	NM_015005		Approved	FAM68C, Cep170R	uc010axb.4	Q9Y4F5	OTTHUMG00000170763	ENST00000414716.3:c.3596G>A	14.37:g.105354172G>A	ENSP00000404151:p.Ser1199Asn					CEP170B_ENST00000556508.1_Missense_Mutation_p.S1129N|CEP170B_ENST00000418279.1_Missense_Mutation_p.S1129N|CEP170B_ENST00000414716.3_Missense_Mutation_p.S1199N	p.S1200N							12	3827	+								Q2KHR7|Q86TI7	Missense_Mutation	SNP	ENST00000414716.3	37	c.3599G>A	CCDS45175.1	.	.	.	.	.	.	.	.	.	.	g	20.5	3.998716	0.74818	.	.	ENSG00000099814	ENST00000556508;ENST00000414716;ENST00000453495;ENST00000418279	T;T;T;T	0.53640	0.62;0.76;0.61;0.76	3.88	3.88	0.44766	.	0.340920	0.28933	N	0.013676	T	0.69151	0.3079	M	0.77103	2.36	0.50813	D	0.999894	D;D;D	0.89917	0.998;0.997;1.0	D;D;D	0.85130	0.962;0.986;0.997	T	0.75434	-0.3319	10	0.72032	D	0.01	-10.5452	15.8393	0.78831	0.0:0.0:1.0:0.0	.	1199;1199;1129	Q9Y4F5-2;Q9Y4F5;E9PFC1	.;K0284_HUMAN;.	N	1129;1199;1200;1129	ENSP00000451249:S1129N;ENSP00000404151:S1199N;ENSP00000407238:S1200N;ENSP00000415006:S1129N	ENSP00000404151:S1199N	S	+	2	0	KIAA0284	104425217	1.000000	0.71417	0.972000	0.41901	0.684000	0.39900	6.215000	0.72206	1.721000	0.51461	0.306000	0.20318	AGT		0.692	CEP170B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000410289.2	NM_001112726		8	4	0	0	0	0.000978159	0	8	4					A	105354172	G	A	105354172	3	1	200	1	0	0	0	0	1	0	0	0	8166	1029	36	3	3638	3	KIAA0284	14	105354172	Missense_Mutation	SNP	G	TCGA-HC-7081-01A-11D-1961-08		105354172	1995368	28	9259											
TNRC6A	27327	broad.mit.edu	37	chr16	24801364	24801364	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acctctagtttaccaaactcCggttcagtgcagaataatga	13	11	7	10	1	2	2	1	1	1	1	3	2	3	2	3	1	3	3	3	1	5	5	rs145186487		TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr16:24801364C>T	ENST00000395799.3	+	6	1530	c.1401C>T	c.(1399-1401)tcC>tcT	p.S467S	TNRC6A_ENST00000315183.7_Silent_p.S467S	NM_014494.2	NP_055309.2	Q8NDV7	TNR6A_HUMAN	trinucleotide repeat containing 6A	467	Interaction with argonaute family proteins.|Sufficient for interaction with AGO1, AGO3 and AGO4.|Sufficient for interaction with AGO2.				cellular response to starvation (GO:0009267)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|micro-ribonucleoprotein complex (GO:0035068)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|liver(1)|lung(20)|ovary(3)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64				GBM - Glioblastoma multiforme(48;0.0394)		TACCAAACTCCGGTTCAGTGC	0.438																																						ENST00000395799.3																			0				breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|liver(1)|lung(20)|ovary(3)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64						c.(1399-1401)tcC>tcT		trinucleotide repeat containing 6A		C		0,4394		0,0,2197	54	53	54		1401	4	1	16	dbSNP_134	54	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	TNRC6A	NM_014494.2		0,1,6496	TT,TC,CC		0.0116,0.0,0.0077		467/1963	24801364	1,12993	2197	4300	6497	SO:0001819	synonymous_variant	27327				negative regulation of translation involved in gene silencing by miRNA	cytoplasmic mRNA processing body|micro-ribonucleoprotein complex	nucleotide binding|RNA binding	g.chr16:24801364C>T	U80739	CCDS10624.2	16p11.2	2009-09-22	2004-12-17	2004-12-17	ENSG00000090905	ENSG00000090905		"Trinucleotide (CAG) repeat containing"	11969	protein-coding gene	gene with protein product		610739	"trinucleotide repeat containing 6"	TNRC6		9225980	Standard	NM_014494		Approved	CAGH26, KIAA1460, GW182	uc002dmm.3	Q8NDV7	OTTHUMG00000096999	ENST00000395799.3:c.1401C>T	16.37:g.24801364C>T						TNRC6A_ENST00000315183.7_Silent_p.S467S	p.S467S	NM_014494.2	NP_055309.2	Q8NDV7	TNR6A_HUMAN		GBM - Glioblastoma multiforme(48;0.0394)	6	1530	+			467			Sufficient for interaction with EIF2C1, EIF2C3 and EIF2C4.|Sufficient for interaction with EIF2C2.		C9JAR8|O15408|Q658L5|Q6NVB5|Q8NEZ0|Q8TBT8|Q8TCR0|Q9NV59|Q9P268	Silent	SNP	ENST00000395799.3	37	c.1401C>T	CCDS10624.2																																																																																				0.438	TNRC6A-001	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214081.1	NM_020847		7	65	0	0	0	0.00198382	0	7	65					T	24801364	C	T	24801364	2	4	200	1	0	0	0	0	0	0	0	1	16337	639	23	2		2	TNRC6A	16	24801364	Silent	SNP	C	TCGA-HC-7081-01A-11D-1961-08		24801364	65553389	29	9260											
PIK3R6	146850	broad.mit.edu	37	chr17	8731970	8731970	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgtgtgcagccgggacacGccgggcagcatttccccatc	6	7	13	15	3	0	0	0	0	0	0	2	1	1	1	4	2	3	4	4	2	0	1			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr17:8731970G>A	ENST00000311434.9	-	11	1466	c.1227C>T	c.(1225-1227)ggC>ggT	p.G409G	PIK3R6_ENST00000434064.2_5'UTR	NM_001010855.2	NP_001010855.1	Q5UE93	PI3R6_HUMAN	phosphoinositide-3-kinase, regulatory subunit 6	409					angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|G-protein coupled receptor signaling pathway (GO:0007186)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of angiogenesis (GO:0045766)|positive regulation of MAP kinase activity (GO:0043406)|regulation of phosphatidylinositol 3-kinase activity (GO:0043551)|small molecule metabolic process (GO:0044281)	1-phosphatidylinositol-4-phosphate 3-kinase, class IB complex (GO:0005944)|cytosol (GO:0005829)|membrane (GO:0016020)	1-phosphatidylinositol-3-kinase regulator activity (GO:0046935)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)										GCCGGGACACGCCGGGCAGCA	0.701																																						ENST00000311434.9																			0											c.(1225-1227)ggC>ggT		phosphoinositide-3-kinase, regulatory subunit 6							15	18	17					17																	8731970		1929	4098	6027	SO:0001819	synonymous_variant	146850				platelet activation	cytosol		g.chr17:8731970G>A	AK091819	CCDS73985.1	17p13.1	2013-01-31	2008-02-04	2008-02-04	ENSG00000174083	ENSG00000276231			27101	protein-coding gene	gene with protein product		611462	"chromosome 17 open reading frame 38"	C17orf38		16476736	Standard	NM_001010855		Approved	FLJ34500, HsT41028, p87PIKAP	uc002glq.1	Q5UE93	OTTHUMG00000132861	ENST00000311434.9:c.1227C>T	17.37:g.8731970G>A						PIK3R6_ENST00000434064.2_5'UTR	p.G409G	NM_001010855.2	NP_001010855.1	Q5UE93	PI3R6_HUMAN			11	1466	-			409					Q658R3	Silent	SNP	ENST00000311434.9	37	c.1227C>T																																																																																					0.701	PIK3R6-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001010855		5	29	0	0	0	0.00116845	0	5	29					A	8731970	G	A	8731970	2	1	200	1	0	0	0	0	0	0	0	1	11923	1074	38	1		1	PIK3R6	17	8731970	Silent	SNP	G	TCGA-HC-7081-01A-11D-1961-08		8731970	72463240	30	9261											
C19orf57	79173	broad.mit.edu	37	chr19	14006305	14006305	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tggaactctgggggtccccaTagaagtctcctagccttggg	7	10	13	11	0	2	1	0	0	2	1	4	2	3	2	4	4	2	0	4	4	4	3			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr19:14006305T>G	ENST00000586783.1	-	2	85	c.86A>C	c.(85-87)tAt>tCt	p.Y29S	C19orf57_ENST00000591586.1_Missense_Mutation_p.Y29S|C19orf57_ENST00000346736.2_Missense_Mutation_p.Y29S|C19orf57_ENST00000454313.1_Missense_Mutation_p.Y29S			Q0VDD7	CS057_HUMAN	chromosome 19 open reading frame 57	29					multicellular organismal development (GO:0007275)					breast(2)|kidney(1)|lung(3)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(19;2e-21)			GGGGTCCCCATAGAAGTCTCC	0.547																																						ENST00000454313.1																			0				breast(2)|kidney(1)|lung(3)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	14						c.(85-87)tAt>tCt		chromosome 19 open reading frame 57							171	182	178					19																	14006305		2203	4300	6503	SO:0001583	missense	79173				multicellular organismal development		protein binding	g.chr19:14006305T>G	BC012945	CCDS12299.1	19p13.12	2012-10-26			ENSG00000132016	ENSG00000132016			28153	protein-coding gene	gene with protein product						8228263	Standard	NM_024323		Approved	MGC11271	uc002mxl.1	Q0VDD7	OTTHUMG00000181851	ENST00000586783.1:c.86A>C	19.37:g.14006305T>G	ENSP00000465822:p.Tyr29Ser					C19orf57_ENST00000591586.1_Missense_Mutation_p.Y29S|C19orf57_ENST00000586783.1_Missense_Mutation_p.Y29S|C19orf57_ENST00000346736.2_Missense_Mutation_p.Y29S	p.Y29S			Q0VDD7	CS057_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;2e-21)		3	144	-			29					Q13411|Q8N825|Q96D63|Q9BU49	Missense_Mutation	SNP	ENST00000586783.1	37	c.86A>C		.	.	.	.	.	.	.	.	.	.	T	7.625	0.677669	0.14841	.	.	ENSG00000132016	ENST00000454313;ENST00000346736	T;T	0.28069	1.63;1.63	4.12	-0.64	0.11493	.	1.505870	0.04592	N	0.396936	T	0.13030	0.0316	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.16482	-1.0401	10	0.21540	T	0.41	-0.289	0.4011	0.00426	0.1812:0.2239:0.1873:0.4076	.	29	Q0VDD7-2	.	S	29	ENSP00000404382:Y29S;ENSP00000254336:Y29S	ENSP00000254336:Y29S	Y	-	2	0	C19orf57	13867305	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-0.513000	0.06305	-0.193000	0.10415	0.533000	0.62120	TAT		0.547	C19orf57-003	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000457947.1	NM_024323		8	232	0	0	0	0.000442599	0	8	232					G	14006305	T	G	14006305	3	3	200	1	0	0	0	0	1	0	0	0	1939	1406	49	5	1851	5	C19orf57	19	14006305	Missense_Mutation	SNP	T	TCGA-HC-7081-01A-11D-1961-08		14006305	45122678	31	9262											
PIK3R2	5296	broad.mit.edu	37	chr19	18278049	18278049	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcggacaacagagagatcGacaagcgcatgaacagcctc	14	4	10	13	3	0	3	0	1	0	2	3	6	0	4	2	1	4	1	2	1	3	0	rs372272045		TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr19:18278049G>T	ENST00000593731.1	+	13	2229	c.1669G>T	c.(1669-1671)Gac>Tac	p.D557Y	PIK3R2_ENST00000222254.8_Missense_Mutation_p.D557Y			O00459	P85B_HUMAN	phosphoinositide-3-kinase, regulatory subunit 2 (beta)	557					blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)	cytosol (GO:0005829)|phosphatidylinositol 3-kinase complex (GO:0005942)	phosphatidylinositol 3-kinase regulator activity (GO:0035014)|receptor tyrosine kinase binding (GO:0030971)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(3)|pancreas(1)|stomach(1)	24					Isoprenaline(DB01064)	CAGAGAGATCGACAAGCGCAT	0.622																																						ENST00000593731.1																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(3)|pancreas(1)|stomach(1)	24						c.(1669-1671)Gac>Tac		phosphoinositide-3-kinase, regulatory subunit 2 (beta)							79	83	82					19																	18278049		2203	4300	6503	SO:0001583	missense	5296				fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|negative regulation of anti-apoptosis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|T cell costimulation|T cell receptor signaling pathway	phosphatidylinositol 3-kinase complex	GTPase activator activity|phosphatidylinositol 3-kinase regulator activity|protein binding	g.chr19:18278049G>T		CCDS12371.1	19p13.11	2013-03-28	2008-02-04		ENSG00000105647	ENSG00000105647		"SH2 domain containing"	8980	protein-coding gene	gene with protein product		603157				1314371	Standard	NM_005027		Approved	P85B, p85	uc002nia.2	O00459	OTTHUMG00000183383	ENST00000593731.1:c.1669G>T	19.37:g.18278049G>T	ENSP00000471914:p.Asp557Tyr					PIK3R2_ENST00000222254.7_Missense_Mutation_p.D557Y	p.D557Y			O00459	P85B_HUMAN			13	2229	+			557					Q5EAT5|Q9UPH9	Missense_Mutation	SNP	ENST00000593731.1	37	c.1669G>T	CCDS12371.1	.	.	.	.	.	.	.	.	.	.	G	25.4	4.637908	0.87760	.	.	ENSG00000105647	ENST00000222254	T	0.35236	1.32	4.24	4.24	0.50183	.	0.000000	0.85682	D	0.000000	T	0.63640	0.2528	M	0.84219	2.685	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.71328	-0.4626	10	0.87932	D	0	-43.4013	16.4813	0.84158	0.0:0.0:1.0:0.0	.	557	O00459	P85B_HUMAN	Y	557	ENSP00000222254:D557Y	ENSP00000222254:D557Y	D	+	1	0	PIK3R2	18139049	1.000000	0.71417	0.984000	0.44739	0.950000	0.60333	9.667000	0.98616	2.288000	0.76882	0.561000	0.74099	GAC		0.622	PIK3R2-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	nonsense_mediated_decay	protein_coding	OTTHUMT00000466386.2	NM_005027		12	88	1	0	1.08611e-07	0.000978159	1.61332e-06	12	88					T	18278049	G	T	18278049	3	4	200	1	0	0	0	0	1	0	0	0	11919	1058	37	5	1715	5	PIK3R2	19	18278049	Missense_Mutation	SNP	G	TCGA-HC-7081-01A-11D-1961-08	4271744	18278049	40850934	32	9263											
ZNF568	374900	broad.mit.edu	37	chr19	37440624	37440627	+	Frame_Shift_Del	DEL	ACTT	ACTT	-																															gggtttggaacataatttagActtacttagatatgagaaag																										TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr19:37440624_37440627delACTT	ENST00000333987.7	+	7	1075_1078	c.569_572delACTT	c.(568-573)gacttafs	p.DL190fs	ZNF568_ENST00000415168.1_Frame_Shift_Del_p.DL126fs|ZNF568_ENST00000427117.1_Intron|ZNF568_ENST00000455427.2_Intron	NM_001204835.1|NM_198539.3	NP_001191764.1|NP_940941.2	Q3ZCX4	ZN568_HUMAN	zinc finger protein 568	190					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(9)|ovary(1)	29	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			CATAATTTAGACTTACTTAGATAT	0.363																																						ENST00000415168.1																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(9)|ovary(1)	29						c.(376-381)gafs		zinc finger protein 568																																				SO:0001589	frameshift_variant	374900				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:37440624_37440627delACTT	BX640681	CCDS42558.1, CCDS56092.1, CCDS56093.1, CCDS74351.1	19q13.12	2013-09-20			ENSG00000198453	ENSG00000198453		"Zinc fingers, C2H2-type", "-"	25392	protein-coding gene	gene with protein product							Standard	NM_198539		Approved	DKFZp686B0797	uc002ofc.3	Q3ZCX4	OTTHUMG00000048160	ENST00000333987.7:c.569_572delACTT	19.37:g.37440628_37440631delACTT	ENSP00000334685:p.Asp190fs					ZNF568_ENST00000455427.2_Intron|ZNF568_ENST00000333987.7_Frame_Shift_Del_p.DL190fs|ZNF568_ENST00000427117.1_Intron	p.DL126fs	NM_001204837.1	NP_001191766.1	Q3ZCX4	ZN568_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		5	753_756	+	Esophageal squamous(110;0.183)		190					B4DS92|E7ER33|Q6N060|Q8NA64	Frame_Shift_Del	DEL	ENST00000333987.7	37	c.377_380delACTT	CCDS42558.1																																																																																				0.363	ZNF568-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109572.2	NM_198539		34	93						34	93	---	---	---	---	-	37440627	ACTT	-	37440624	7	5	200	1	0	1	0	1	0	0	0	0	17996	275	10	0	587	0	ZNF568	19	37440624	Frame_Shift_Del	DEL	ACTT	TCGA-HC-7081-01A-11D-1961-08	19162575	37440624	21688359	33	9264											
DLL3	10683	broad.mit.edu	37	chr19	39995921	39995921	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcgtgggttctacgggctgcGgtgtgaggtgagcggggtga	4	9	22	6	4	1	3	0	3	1	0	1	3	1	3	0	6	3	2	0	6	1	2	rs141671275	byFrequency	TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr19:39995921G>A	ENST00000205143.4	+	6	930	c.923G>A	c.(922-924)cGg>cAg	p.R308Q	DLL3_ENST00000356433.5_Missense_Mutation_p.R308Q	NM_016941.3	NP_058637.1	Q9NYJ7	DLL3_HUMAN	delta-like 3 (Drosophila)	308	EGF-like 2. {ECO:0000255|PROSITE- ProRule:PRU00076}.				compartment pattern specification (GO:0007386)|negative regulation of neurogenesis (GO:0050768)|Notch signaling pathway (GO:0007219)|paraxial mesoderm development (GO:0048339)|skeletal system development (GO:0001501)|somitogenesis (GO:0001756)	integral component of membrane (GO:0016021)	Notch binding (GO:0005112)			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(7)	19	all_cancers(60;4.04e-06)|all_lung(34;1.77e-07)|Lung NSC(34;2.09e-07)|all_epithelial(25;1.13e-05)|Ovarian(47;0.159)		Epithelial(26;5.89e-26)|all cancers(26;1.96e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			TACGGGCTGCGGTGTGAGGTG	0.592																																						ENST00000205143.4																			0				breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(7)	19						c.(922-924)cGg>cAg		delta-like 3 (Drosophila)		G	GLN/ARG,GLN/ARG	2,4404	4.2+/-10.8	0,2,2201	131	109	116		923,923	2	0.1	19	dbSNP_134	116	0,8600		0,0,4300	no	missense,missense	DLL3	NM_016941.3,NM_203486.2	43,43	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	possibly-damaging,possibly-damaging	308/619,308/588	39995921	2,13004	2203	4300	6503	SO:0001583	missense	10683				Notch signaling pathway|skeletal system development	integral to membrane	Notch binding	g.chr19:39995921G>A	AF241373	CCDS12537.1, CCDS12538.1	19q13.2	2008-05-14	2001-12-03			ENSG00000090932			2909	protein-coding gene	gene with protein product		602768	"delta (Drosophila)-like 3"			10364530, 10742114	Standard	NM_203486		Approved	SCDO1	uc002olx.2	Q9NYJ7		ENST00000205143.4:c.923G>A	19.37:g.39995921G>A	ENSP00000205143:p.Arg308Gln					DLL3_ENST00000356433.5_Missense_Mutation_p.R308Q	p.R308Q	NM_016941.3	NP_058637.1	Q9NYJ7	DLL3_HUMAN	Epithelial(26;5.89e-26)|all cancers(26;1.96e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)		6	930	+	all_cancers(60;4.04e-06)|all_lung(34;1.77e-07)|Lung NSC(34;2.09e-07)|all_epithelial(25;1.13e-05)|Ovarian(47;0.159)		308			EGF-like 2.		E9PFG2|Q8NBS4	Missense_Mutation	SNP	ENST00000205143.4	37	c.923G>A	CCDS12538.1	.	.	.	.	.	.	.	.	.	.	G	13.09	2.133810	0.37630	4.54E-4	0.0	ENSG00000090932	ENST00000356433;ENST00000205143	D;D	0.91631	-2.88;-2.75	5.23	1.95	0.26073	Epidermal growth factor-like (1);EGF-like region, conserved site (2);Epidermal growth factor-like, type 3 (1);	0.000000	0.39210	N	0.001436	T	0.80752	0.4683	N	0.21194	0.64	0.36023	D	0.838844	B;B;B	0.27951	0.195;0.195;0.063	B;B;B	0.22753	0.041;0.025;0.025	T	0.71262	-0.4645	9	.	.	.	.	3.0548	0.06181	0.3199:0.0:0.4933:0.1868	.	308;308;308	Q8NBS4;Q9NYJ7;E9PFG2	.;DLL3_HUMAN;.	Q	308	ENSP00000348810:R308Q;ENSP00000205143:R308Q	.	R	+	2	0	DLL3	44687761	1.000000	0.71417	0.128000	0.21923	0.058000	0.15608	4.029000	0.57253	0.597000	0.29811	-0.268000	0.10319	CGG		0.592	DLL3-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000464958.1			28	86	0	0	0	0.00127121	0	28	86					A	39995921	G	A	39995921	3	1	200	1	0	0	0	0	1	0	0	0	4567	1116	39	2	945	2	DLL3	19	39995921	Missense_Mutation	SNP	G	TCGA-HC-7081-01A-11D-1961-08	2555297	39995921	19133062	34	9265											
SHANK1	50944	broad.mit.edu	37	chr19	51217187	51217187	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acagagccttcggtctgggcCgccagtgtcaagggggtctc	6	8	15	12	2	3	1	1	0	2	1	5	1	3	1	3	4	1	0	3	4	1	1			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr19:51217187C>T	ENST00000293441.1	-	5	678	c.660G>A	c.(658-660)gcG>gcA	p.A220A	SHANK1_ENST00000391814.1_Silent_p.A220A|SHANK1_ENST00000359082.3_Silent_p.A220A	NM_016148.2	NP_057232.2	Q9Y566	SHAN1_HUMAN	SH3 and multiple ankyrin repeat domains 1	220					adult behavior (GO:0030534)|associative learning (GO:0008306)|cytoskeletal anchoring at plasma membrane (GO:0007016)|dendritic spine morphogenesis (GO:0060997)|determination of affect (GO:0050894)|habituation (GO:0046959)|long-term memory (GO:0007616)|negative regulation of actin filament bundle assembly (GO:0032232)|neuromuscular process controlling balance (GO:0050885)|olfactory behavior (GO:0042048)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|protein complex assembly (GO:0006461)|protein localization to synapse (GO:0035418)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|righting reflex (GO:0060013)|social behavior (GO:0035176)|synapse maturation (GO:0060074)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|excitatory synapse (GO:0060076)|intracellular (GO:0005622)|membrane (GO:0016020)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	ankyrin repeat binding (GO:0071532)|GKAP/Homer scaffold activity (GO:0030160)|identical protein binding (GO:0042802)|ionotropic glutamate receptor binding (GO:0035255)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|scaffold protein binding (GO:0097110)|SH3 domain binding (GO:0017124)|somatostatin receptor binding (GO:0031877)			breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		CGGTCTGGGCCGCCAGTGTCA	0.617																																						ENST00000293441.1																			0				breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64						c.(658-660)gcG>gcA		SH3 and multiple ankyrin repeat domains 1							33	35	34					19																	51217187		2203	4300	6503	SO:0001819	synonymous_variant	50944				cytoskeletal anchoring at plasma membrane	cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane	ionotropic glutamate receptor binding	g.chr19:51217187C>T	AF163302	CCDS12799.1	19q13.3	2013-01-10			ENSG00000161681	ENSG00000161681		"Sterile alpha motif (SAM) domain containing", "Ankyrin repeat domain containing"	15474	protein-coding gene	gene with protein product	"somatostatin receptor-interacting protein"	604999				10551867	Standard	NM_016148		Approved	SSTRIP, SPANK-1, synamon	uc002psx.1	Q9Y566	OTTHUMG00000137380	ENST00000293441.1:c.660G>A	19.37:g.51217187C>T						SHANK1_ENST00000391814.1_Silent_p.A220A|SHANK1_ENST00000359082.3_Silent_p.A220A	p.A220A	NM_016148.2	NP_057232.2	Q9Y566	SHAN1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)	5	678	-		all_neural(266;0.057)	220					A8MXP5|B7WNY6|Q9NYW9	Silent	SNP	ENST00000293441.1	37	c.660G>A	CCDS12799.1																																																																																				0.617	SHANK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268071.1	NM_016148		9	30	0	0	0	0.000673444	0	9	30					T	51217187	C	T	51217187	2	4	200	1	0	0	0	0	0	0	0	1	14264	639	23	2		2	SHANK1	19	51217187	Silent	SNP	C	TCGA-HC-7081-01A-11D-1961-08	11221266	51217187	7911796	35	9266											
NLRP4	147945	broad.mit.edu	37	chr19	56363700	56363700	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gatggatagaaaggatctctGcatgaaggtcatgagggaga	14	8	15	4	0	2	4	1	2	1	2	3	8	2	6	0	4	1	1	0	4	3	1			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr19:56363700G>T	ENST00000301295.6	+	2	676	c.254G>T	c.(253-255)tGc>tTc	p.C85F	NLRP4_ENST00000346986.5_Missense_Mutation_p.C85F	NM_134444.4	NP_604393.2	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	85	DAPIN. {ECO:0000255|PROSITE- ProRule:PRU00061}.				inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of type I interferon production (GO:0032481)|regulation of type I interferon production (GO:0032479)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		AAGGATCTCTGCATGAAGGTC	0.443																																						ENST00000301295.6																			0				breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42						c.(253-255)tGc>tTc		NLR family, pyrin domain containing 4							72	75	74					19																	56363700		2203	4300	6503	SO:0001583	missense	147945						ATP binding	g.chr19:56363700G>T	AF479747	CCDS12936.1	19q13.43	2009-03-27	2006-12-08	2006-12-08				"Nucleotide-binding domain and leucine rich repeat containing"	22943	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 4", "cancer/testis antigen 58"	609645	"NACHT, leucine rich repeat and PYD containing 4"	NALP4		12563287, 12019269	Standard	NM_134444		Approved	PYPAF4, FLJ32126, PAN2, RNH2, CLR19.5, CT58	uc002qmd.4	Q96MN2		ENST00000301295.6:c.254G>T	19.37:g.56363700G>T	ENSP00000301295:p.Cys85Phe					NLRP4_ENST00000346986.5_Missense_Mutation_p.C85F	p.C85F	NM_134444.4	NP_604393.2	Q96MN2	NALP4_HUMAN		GBM - Glioblastoma multiforme(193;0.0606)	2	676	+		Colorectal(82;0.0002)|Ovarian(87;0.221)	85			DAPIN.		Q86W87|Q96AY6	Missense_Mutation	SNP	ENST00000301295.6	37	c.254G>T	CCDS12936.1	.	.	.	.	.	.	.	.	.	.	G	13.16	2.154359	0.38021	.	.	ENSG00000160505	ENST00000301295;ENST00000346986	T;T	0.51817	0.69;0.69	4.46	2.05	0.26809	Pyrin (2);DEATH-like (2);	.	.	.	.	T	0.54615	0.1869	L	0.60067	1.865	0.09310	N	1	D	0.60160	0.987	P	0.58520	0.84	T	0.39143	-0.9628	9	0.28530	T	0.3	.	8.676	0.34179	0.0:0.0:0.5662:0.4338	.	85	Q96MN2	NALP4_HUMAN	F	85	ENSP00000301295:C85F;ENSP00000344787:C85F	ENSP00000301295:C85F	C	+	2	0	NLRP4	61055512	0.000000	0.05858	0.090000	0.20809	0.008000	0.06430	0.159000	0.16442	1.116000	0.41820	0.655000	0.94253	TGC		0.443	NLRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457367.2	NM_134444		27	60	1	0	1.2476e-16	0.00106085	1.89263e-15	27	60					T	56363700	G	T	56363700	3	4	200	1	0	0	0	0	1	0	0	0	10479	1319	46	5	256	5	NLRP4	19	56363700	Missense_Mutation	SNP	G	TCGA-HC-7081-01A-11D-1961-08	5146513	56363700	2765283	36	9267											
TTLL8	164714	broad.mit.edu	37	chr22	50480096	50480096	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	caggtcctcccactcggcctCagtgaggtcctccacggcat	6	8	10	17	2	1	1	1	1	0	0	6	1	5	1	5	4	0	1	5	4	0	0			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr22:50480096C>T	ENST00000266182.6	-	7	783	c.784G>A	c.(784-786)Gag>Aag	p.E262K	TTLL8_ENST00000440475.1_Missense_Mutation_p.E262K			A6PVC2	TTLL8_HUMAN	tubulin tyrosine ligase-like family, member 8	298	TTL. {ECO:0000255|PROSITE- ProRule:PRU00568}.				cilium assembly (GO:0042384)|protein polyglycylation (GO:0018094)	axoneme (GO:0005930)|cilium (GO:0005929)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)	protein-glycine ligase activity (GO:0070735)|protein-glycine ligase activity, initiating (GO:0070736)			NS(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|ovary(4)	12		all_cancers(38;3.44e-07)|all_epithelial(38;2.44e-06)|all_lung(38;0.00141)|Breast(42;0.00519)|Lung NSC(38;0.0199)|Ovarian(80;0.142)|Lung SC(80;0.162)		READ - Rectum adenocarcinoma(2;0.000882)|Colorectal(2;0.00311)|BRCA - Breast invasive adenocarcinoma(115;0.226)		CACTCGGCCTCAGTGAGGTCC	0.607																																						ENST00000266182.6																			0				NS(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|ovary(4)	12						c.(784-786)Gag>Aag		tubulin tyrosine ligase-like family, member 8							79	85	83					22																	50480096		2175	4264	6439	SO:0001583	missense	164714							g.chr22:50480096C>T			22q13.33	2013-02-14			ENSG00000138892	ENSG00000138892		"Tubulin tyrosine ligase-like family"	34000	protein-coding gene	gene with protein product						15890843	Standard	XM_003403745		Approved			A6PVC2	OTTHUMG00000150241	ENST00000266182.6:c.784G>A	22.37:g.50480096C>T	ENSP00000266182:p.Glu262Lys					TTLL8_ENST00000440475.1_Missense_Mutation_p.E262K	p.E262K						READ - Rectum adenocarcinoma(2;0.000882)|Colorectal(2;0.00311)|BRCA - Breast invasive adenocarcinoma(115;0.226)	7	783	-		all_cancers(38;3.44e-07)|all_epithelial(38;2.44e-06)|all_lung(38;0.00141)|Breast(42;0.00519)|Lung NSC(38;0.0199)|Ovarian(80;0.142)|Lung SC(80;0.162)						B5MDV0	Missense_Mutation	SNP	ENST00000266182.6	37	c.784G>A		.	.	.	.	.	.	.	.	.	.	C	12.53	1.965776	0.34659	.	.	ENSG00000138892	ENST00000266182;ENST00000440475;ENST00000433387	T;T;T	0.42131	3.57;0.98;0.98	5.18	4.1	0.47936	.	0.628717	0.14924	N	0.290487	T	0.40619	0.1124	L	0.56769	1.78	0.31724	N	0.63786	B	0.20887	0.049	B	0.17433	0.018	T	0.45352	-0.9267	10	0.39692	T	0.17	.	13.3935	0.60836	0.1583:0.8417:0.0:0.0	.	262	B5MDV0	.	K	262;262;298	ENSP00000266182:E262K;ENSP00000387509:E262K;ENSP00000392252:E298K	ENSP00000266182:E262K	E	-	1	0	TTLL8	48822223	0.710000	0.27896	0.940000	0.37924	0.278000	0.26855	2.335000	0.43929	2.406000	0.81754	0.484000	0.47621	GAG		0.607	TTLL8-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_001080447		5	27	0	0	0	0.000602214	0	5	27					T	50480096	C	T	50480096	3	4	200	1	0	0	0	0	1	0	0	0	16730	835	29	3	1751	3	TTLL8	22	50480096	Missense_Mutation	SNP	C	TCGA-HC-7081-01A-11D-1961-08		50480096	824470	37	9268											
FOXR2	139628	broad.mit.edu	37	chrX	55651014	55651014	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actcgtgtcttagcctttgcTcaaagggagagaatccaaga	12	10	10	9	1	2	2	1	0	1	2	4	4	3	3	2	1	2	1	2	1	4	2			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chrX:55651014T>G	ENST00000339140.3	+	1	1182	c.870T>G	c.(868-870)gcT>gcG	p.A290A		NM_198451.3	NP_940853.1	Q6PJQ5	FOXR2_HUMAN	forkhead box R2	290					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	19						TAGCCTTTGCTCAAAGGGAGA	0.493																																						ENST00000339140.3																			0				biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	19						c.(868-870)gcT>gcG		forkhead box R2							124	97	106					X																	55651014		2203	4300	6503	SO:0001819	synonymous_variant	139628				embryo development|organ development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chrX:55651014T>G	BC012934	CCDS35308.1	Xp11	2006-12-15			ENSG00000189299	ENSG00000189299		"Forkhead boxes"	30469	protein-coding gene	gene with protein product						15202009, 15202027	Standard	NM_198451		Approved	MGC21658, FOXN6	uc004duo.3	Q6PJQ5	OTTHUMG00000021661	ENST00000339140.3:c.870T>G	X.37:g.55651014T>G							p.A290A	NM_198451.3	NP_940853.1	Q6PJQ5	FOXR2_HUMAN			1	1182	+			290						Silent	SNP	ENST00000339140.3	37	c.870T>G	CCDS35308.1																																																																																				0.493	FOXR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056877.2	NM_198451		17	15	0	0	0	0.000566183	0	17	15					G	55651014	T	G	55651014	2	3	200	1	0	0	0	0	0	0	0	1	6032	1538	54	5		5	FOXR2	23	55651014	Silent	SNP	T	TCGA-HC-7081-01A-11D-1961-08		55651014	99619546	38	9269											
SPRR3	6707	broad.mit.edu	37	chr1	152975781	152975781	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctgtaccaaggtccctgaGccaggttgtaccaaggtccc	8	8	12	13	0	0	1	0	1	0	0	2	1	2	1	5	4	3	4	5	4	4	3			TCGA-HC-7209-01A-11D-2114-08	TCGA-HC-7209-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12dd9452-9a7b-4193-85c7-573b088b1979	77aa04fb-bbf6-4d20-b6c2-e9d4647bf6f6	g.chr1:152975781G>A	ENST00000295367.4	+	2	327	c.285G>A	c.(283-285)gaG>gaA	p.E95E	SPRR3_ENST00000542696.1_Intron|SPRR3_ENST00000331860.3_Silent_p.E95E	NM_001097589.1	NP_001091058.1	Q9UBC9	SPRR3_HUMAN	small proline-rich protein 3	95	14 X 8 AA approximate tandem repeats.				epidermis development (GO:0008544)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	structural molecule activity (GO:0005198)			endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	11	Lung NSC(65;1.49e-28)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			AGGTCCCTGAGCCAGGTTGTA	0.592																																						ENST00000331860.3																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	11						c.(283-285)gaG>gaA		small proline-rich protein 3							77	64	69					1																	152975781		2203	4300	6503	SO:0001819	synonymous_variant	6707				keratinization|peptide cross-linking|wound healing	cytoplasm	protein binding|structural molecule activity	g.chr1:152975781G>A	AY118269	CCDS1033.1	1q21-q22	2008-02-05			ENSG00000163209	ENSG00000163209			11268	protein-coding gene	gene with protein product		182271				8325635	Standard	NM_005416		Approved		uc001faz.4	Q9UBC9	OTTHUMG00000013872	ENST00000295367.4:c.285G>A	1.37:g.152975781G>A						SPRR3_ENST00000295367.4_Silent_p.E95E|SPRR3_ENST00000542696.1_Intron	p.E95E	NM_005416.2	NP_005407.1	Q9UBC9	SPRR3_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		3	435	+	Lung NSC(65;1.49e-28)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		95			14 X 8 AA approximate tandem repeats.		A5YKK8|B2R4G8|D3DV32|O75597|Q4ZGI7|Q5T525|Q8NET7|Q9UDG3	Silent	SNP	ENST00000295367.4	37	c.285G>A	CCDS1033.1																																																																																				0.592	SPRR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000038910.1	NM_005416		18	38	0	0	0	0.062417	0	18	38					A	152975781	G	A	152975781	2	1	201	1	0	0	0	0	0	0	0	1	15102	962	34	3		3	SPRR3	1	152975781	Silent	SNP	G	TCGA-HC-7209-01A-11D-2114-08		152975781	96274840	1	9270											
TTN	7273	broad.mit.edu	37	chr2	179463271	179463271	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tccttcttctttatattcaaCgatgtatccagttactttgg	8	19	5	9	1	3	0	1	0	2	0	5	1	5	0	2	1	2	2	2	1	5	9	rs181957743		TCGA-HC-7209-01A-11D-2114-08	TCGA-HC-7209-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12dd9452-9a7b-4193-85c7-573b088b1979	77aa04fb-bbf6-4d20-b6c2-e9d4647bf6f6	g.chr2:179463271C>T	ENST00000591111.1	-	242	52374	c.52150G>A	c.(52150-52152)Gtt>Att	p.V17384I	TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.V10152I|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.V10085I|TTN_ENST00000460472.2_Missense_Mutation_p.V9960I|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.V19025I|TTN_ENST00000342992.6_Missense_Mutation_p.V16457I|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586452.1_RNA			Q8WZ42	TITIN_HUMAN	titin	17384	Fibronectin type-III 26. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTATATTCAACGATGTATCCA	0.378													C|||	1	0.000199681	0	0.0014	5008	,	,		17228	0		0	False		,,,				2504	0					ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(57073-57075)Gtt>Att		titin							93	89	90					2																	179463271		1825	4088	5913	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179463271C>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.52150G>A	2.37:g.179463271C>T	ENSP00000465570:p.Val17384Ile					TTN_ENST00000591111.1_Missense_Mutation_p.V17384I|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.V9960I|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.V10085I|TTN_ENST00000342992.6_Missense_Mutation_p.V16457I|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.V10152I|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589234.1_RNA	p.V19025I	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		292	57297	-			17384					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.57073G>A		2	9.157509157509158E-4	0	0.0	1	0.0027624309392265192	0	0.0	1	0.0013192612137203166	C	13.82	2.351240	0.41700	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.60672	0.17;0.17;0.17;0.17	5.91	4.13	0.48395	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.41994	0.1183	N	0.13235	0.315	0.44668	D	0.997655	B;B;B;B	0.22800	0.075;0.075;0.075;0.075	B;B;B;B	0.23852	0.049;0.049;0.049;0.049	T	0.33007	-0.9885	9	0.87932	D	0	.	12.5959	0.56470	0.0:0.8663:0.0:0.1337	.	9960;10085;10152;17384	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	I	16457;9960;10152;10085;9958	ENSP00000343764:V16457I;ENSP00000434586:V9960I;ENSP00000340554:V10152I;ENSP00000352154:V10085I	ENSP00000340554:V10152I	V	-	1	0	TTN	179171516	1.000000	0.71417	0.876000	0.34364	0.989000	0.77384	6.026000	0.70873	0.847000	0.35167	-0.142000	0.14014	GTT		0.378	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		17	23	0	0	0	0.043863	0	17	23					T	179463271	C	T	179463271	3	4	201	1	0	0	0	0	1	0	0	0	16732	536	19	1	50904	1	TTN	2	179463271	Missense_Mutation	SNP	C	TCGA-HC-7209-01A-11D-2114-08		179463271	63736102	2	9271											
USP37	57695	broad.mit.edu	37	chr2	219341590	219341590	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aggtcttcctgctgctgttcGttgcctaacatttcacaaag	8	14	8	11	1	2	0	1	0	1	0	4	0	3	0	2	1	4	4	2	1	2	5			TCGA-HC-7209-01A-11D-2114-08	TCGA-HC-7209-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12dd9452-9a7b-4193-85c7-573b088b1979	77aa04fb-bbf6-4d20-b6c2-e9d4647bf6f6	g.chr2:219341590G>T	ENST00000258399.3	-	19	2428	c.2016C>A	c.(2014-2016)aaC>aaA	p.N672K	USP37_ENST00000415516.1_Missense_Mutation_p.N578K|USP37_ENST00000454775.1_Missense_Mutation_p.N672K|USP37_ENST00000475553.1_5'Flank|USP37_ENST00000418019.1_Missense_Mutation_p.N672K	NM_020935.2	NP_065986	Q86T82	UBP37_HUMAN	ubiquitin specific peptidase 37	672	USP.				G1/S transition of mitotic cell cycle (GO:0000082)|mitotic nuclear division (GO:0007067)|protein deubiquitination (GO:0016579)|protein K11-linked deubiquitination (GO:0035871)|protein K48-linked deubiquitination (GO:0071108)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|protein kinase binding (GO:0019901)|ubiquitin-specific protease activity (GO:0004843)			NS(2)|breast(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|skin(5)|stomach(1)	35		Renal(207;0.0915)		Epithelial(149;1.08e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.00375)|Lung(261;0.00487)		GCTGCTGTTCGTTGCCTAACA	0.393																																						ENST00000258399.3																			0				NS(2)|breast(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|skin(5)|stomach(1)	35						c.(2014-2016)aaC>aaA		ubiquitin specific peptidase 37							104	100	101					2																	219341590		2203	4300	6503	SO:0001583	missense	57695				ubiquitin-dependent protein catabolic process	nucleus	cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr2:219341590G>T	AB046814	CCDS2418.1	2q35	2008-02-05	2005-08-08		ENSG00000135913	ENSG00000135913		"Ubiquitin-specific peptidases"	20063	protein-coding gene	gene with protein product			"ubiquitin specific protease 37"			12838346	Standard	NM_020935		Approved	KIAA1594	uc010fvs.1	Q86T82	OTTHUMG00000133113	ENST00000258399.3:c.2016C>A	2.37:g.219341590G>T	ENSP00000258399:p.Asn672Lys					USP37_ENST00000418019.1_Missense_Mutation_p.N672K|USP37_ENST00000415516.1_Missense_Mutation_p.N578K|USP37_ENST00000454775.1_Missense_Mutation_p.N672K	p.N672K	NM_020935.2	NP_065986.2	Q86T82	UBP37_HUMAN		Epithelial(149;1.08e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.00375)|Lung(261;0.00487)	19	2428	-		Renal(207;0.0915)	672					A2RUQ8|B7ZM38|B7ZM41|E9PHL3|Q2KHT2|Q53S10|Q7Z3A5|Q9HCH8	Missense_Mutation	SNP	ENST00000258399.3	37	c.2016C>A	CCDS2418.1	.	.	.	.	.	.	.	.	.	.	G	0.936	-0.711049	0.03230	.	.	ENSG00000135913	ENST00000258399;ENST00000454775;ENST00000415516;ENST00000418019	T;T;T;T	0.38240	1.17;1.17;1.15;1.17	5.44	-0.171	0.13331	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.708344	0.14796	N	0.297929	T	0.10337	0.0253	N	0.03608	-0.345	0.58432	D	0.999999	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.26224	-1.0109	10	0.07813	T	0.8	-0.9689	0.5464	0.00655	0.4058:0.1343:0.2467:0.2132	.	578;672	Q86T82-2;Q86T82	.;UBP37_HUMAN	K	672;672;578;672	ENSP00000258399:N672K;ENSP00000393662:N672K;ENSP00000400902:N578K;ENSP00000396585:N672K	ENSP00000258399:N672K	N	-	3	2	USP37	219049834	0.002000	0.14202	0.226000	0.23910	0.532000	0.34746	-0.187000	0.09656	0.132000	0.18615	-0.290000	0.09829	AAC		0.393	USP37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256779.3	NM_020935		20	52	1	0	7.88262e-20	0.083992	9.79356e-20	20	52					T	219341590	G	T	219341590	3	4	201	1	0	0	0	0	1	0	0	0	17065	1136	40	5	955	5	USP37	2	219341590	Missense_Mutation	SNP	G	TCGA-HC-7209-01A-11D-2114-08	39878319	219341590	23857783	3	9272											
RPSA	3921	broad.mit.edu	37	chr3	39450137	39450137	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagaggacctgggagaagctTctgctggcagctcgtgcaat	10	8	14	9	1	1	2	0	0	1	2	2	4	1	3	1	3	4	5	1	3	3	1			TCGA-HC-7209-01A-11D-2114-08	TCGA-HC-7209-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12dd9452-9a7b-4193-85c7-573b088b1979	77aa04fb-bbf6-4d20-b6c2-e9d4647bf6f6	g.chr3:39450137T>G	ENST00000301821.6	+	3	283	c.174T>G	c.(172-174)ctT>ctG	p.L58L	RPSA_ENST00000478027.1_3'UTR|SNORA62_ENST00000365493.1_RNA|RPSA_ENST00000443003.1_Silent_p.L58L|SNORA6_ENST00000384033.1_RNA	NM_001012321.1|NM_002295.4	NP_001012321.1|NP_002286.2			ribosomal protein SA											endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	7				KIRC - Kidney renal clear cell carcinoma(284;0.0509)|Kidney(284;0.064)		GGGAGAAGCTTCTGCTGGCAG	0.458																																						ENST00000301821.6																			0				endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	7						c.(172-174)ctT>ctG		ribosomal protein SA							71	72	72					3																	39450137		2203	4300	6503	SO:0001819	synonymous_variant	3921				cell adhesion|endocrine pancreas development|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 3'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|ribosomal small subunit assembly|rRNA export from nucleus|translational elongation|translational termination|viral transcription	90S preribosome|cytosolic small ribosomal subunit|nucleus|plasma membrane	protein binding|receptor activity|ribosome binding|structural constituent of ribosome	g.chr3:39450137T>G	S37431	CCDS2686.1	3p21.3	2014-09-17	2002-08-29	2005-02-11	ENSG00000168028	ENSG00000168028			6502	protein-coding gene	gene with protein product		150370	"laminin receptor 1 (67kD, ribosomal protein SA)"	LAMR1		1534510, 8760291	Standard	NM_001012321		Approved	LRP, 37LRP, p40, SA	uc003cjp.3	P08865	OTTHUMG00000131296	ENST00000301821.6:c.174T>G	3.37:g.39450137T>G						RPSA_ENST00000478027.1_3'UTR|RPSA_ENST00000443003.1_Silent_p.L58L	p.L58L	NM_001012321.1|NM_002295.4	NP_001012321.1|NP_002286.2	P08865	RSSA_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0509)|Kidney(284;0.064)	3	283	+			58			Interaction with PPP1R16B.			Silent	SNP	ENST00000301821.6	37	c.174T>G	CCDS2686.1																																																																																				0.458	RPSA-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254064.3	NM_002295		16	46	0	0	0	0.146539	0	16	46					G	39450137	T	G	39450137	2	3	201	1	0	0	0	0	0	0	0	1	13663	1770	62	5		5	RPSA	3	39450137	Silent	SNP	T	TCGA-HC-7209-01A-11D-2114-08		39450137	158572293	4	9273											
FOXP1	27086	broad.mit.edu	37	chr3	71037204	71037204	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caggtgggtcatcatggcttGcaggcgttctttgtcttttg	4	16	13	8	1	4	0	2	0	2	0	4	0	4	0	0	4	1	3	0	4	0	5			TCGA-HC-7209-01A-11D-2114-08	TCGA-HC-7209-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12dd9452-9a7b-4193-85c7-573b088b1979	77aa04fb-bbf6-4d20-b6c2-e9d4647bf6f6	g.chr3:71037204G>A	ENST00000318789.4	-	14	1612	c.1087C>T	c.(1087-1089)Caa>Taa	p.Q363*	FOXP1_ENST00000498215.1_Nonsense_Mutation_p.Q363*|FOXP1_ENST00000475937.1_Nonsense_Mutation_p.Q363*|FOXP1_ENST00000493089.1_Nonsense_Mutation_p.Q363*|FOXP1_ENST00000468577.1_Nonsense_Mutation_p.Q363*|FOXP1_ENST00000491238.1_Nonsense_Mutation_p.Q365*|FOXP1_ENST00000484350.1_Nonsense_Mutation_p.Q287*	NM_001244810.1|NM_001244813.1|NM_032682.5	NP_001231739.1|NP_001231742.1|NP_116071.2	Q9H334	FOXP1_HUMAN	forkhead box P1	363	Leucine-zipper.				negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	31		Lung NSC(201;4.62e-05)|Prostate(10;0.0181)|Hepatocellular(537;0.186)|Myeloproliferative disorder(1037;0.209)		BRCA - Breast invasive adenocarcinoma(55;1.17e-05)|Epithelial(33;1.39e-05)|LUSC - Lung squamous cell carcinoma(21;2.35e-05)|Lung(16;4.26e-05)		ATCATGGCTTGCAGGCGTTCT	0.428			T	PAX5	ALL																																	ENST00000318789.4				Dom	yes		3	3p14.1	27086	T	forkhead box P1			L	PAX5		ALL		0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	31						c.(1087-1089)Caa>Taa		forkhead box P1							177	184	181					3																	71037204		2203	4300	6503	SO:0001587	stop_gained	27086				cardiac muscle cell differentiation|embryo development|immunoglobulin V(D)J recombination|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of immunoglobulin production|positive regulation of mesenchymal cell proliferation|pre-B cell differentiation|regulation of sequence-specific DNA binding transcription factor activity|skeletal muscle tissue development|smooth muscle tissue development	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding	g.chr3:71037204G>A	AF146696	CCDS2914.1, CCDS33785.1, CCDS58837.1, CCDS58838.1, CCDS58839.1, CCDS74963.1, CCDS74964.1	3p14.1	2008-07-18			ENSG00000114861	ENSG00000114861		"Forkhead boxes"	3823	protein-coding gene	gene with protein product	"fork head-related protein like B", "glutamine-rich factor 1", "PAX5/FOXP1 fusion protein"	605515				8265594, 11751404	Standard	NM_032682		Approved	QRF1, 12CC4, HSPC215, hFKH1B	uc003doj.3	Q9H334	OTTHUMG00000158803	ENST00000318789.4:c.1087C>T	3.37:g.71037204G>A	ENSP00000318902:p.Gln363*					FOXP1_ENST00000493089.1_Nonsense_Mutation_p.Q363*|FOXP1_ENST00000491238.1_Nonsense_Mutation_p.Q365*|FOXP1_ENST00000468577.1_Nonsense_Mutation_p.Q363*|FOXP1_ENST00000498215.1_Nonsense_Mutation_p.Q363*|FOXP1_ENST00000475937.1_Nonsense_Mutation_p.Q363*|FOXP1_ENST00000484350.1_Nonsense_Mutation_p.Q287*	p.Q363*	NM_001244810.1|NM_001244813.1|NM_032682.5	NP_001231739.1|NP_001231742.1|NP_116071.2	Q9H334	FOXP1_HUMAN		BRCA - Breast invasive adenocarcinoma(55;1.17e-05)|Epithelial(33;1.39e-05)|LUSC - Lung squamous cell carcinoma(21;2.35e-05)|Lung(16;4.26e-05)	14	1612	-		Lung NSC(201;4.62e-05)|Prostate(10;0.0181)|Hepatocellular(537;0.186)|Myeloproliferative disorder(1037;0.209)	363			Leucine-zipper.		A3QVP8|B3KV70|G5E9V8|Q8NAN6|Q9BSG9|Q9H332|Q9H333|Q9P0R1	Nonsense_Mutation	SNP	ENST00000318789.4	37	c.1087C>T	CCDS2914.1	.	.	.	.	.	.	.	.	.	.	G	39	7.432290	0.98279	.	.	ENSG00000114861	ENST00000318789;ENST00000358280;ENST00000318796;ENST00000475937;ENST00000339693;ENST00000497355;ENST00000491238;ENST00000493089;ENST00000498215;ENST00000484350;ENST00000468577	.	.	.	5.84	5.84	0.93424	.	0.054481	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	20.1306	0.97998	0.0:0.0:1.0:0.0	.	.	.	.	X	363;175;263;363;363;259;365;363;363;287;363	.	ENSP00000318902:Q363X	Q	-	1	0	FOXP1	71119894	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.476000	0.97823	2.751000	0.94390	0.655000	0.94253	CAA		0.428	FOXP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000352250.1	NM_032682		63	154	0	0	0	0.139131	0	63	154					A	71037204	G	A	71037204	4	1	201	1	0	0	0	0	0	1	0	0	6026	1328	46	3	978	3	FOXP1	3	71037204	Nonsense_Mutation	SNP	G	TCGA-HC-7209-01A-11D-2114-08	31587067	71037204	126985226	5	9274											
TLR1	7096	broad.mit.edu	37	chr4	38798749	38798749	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aattcagacatgtgaaagtcCtttagtagggttcctctata	12	14	8	7	0	2	2	1	1	1	1	4	2	4	2	2	1	0	2	2	1	6	7			TCGA-HC-7209-01A-11D-2114-08	TCGA-HC-7209-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12dd9452-9a7b-4193-85c7-573b088b1979	77aa04fb-bbf6-4d20-b6c2-e9d4647bf6f6	g.chr4:38798749C>T	ENST00000502213.2	-	3	1933	c.1704G>A	c.(1702-1704)aaG>aaA	p.K568K	TLR1_ENST00000308979.2_Silent_p.K568K|TLR1_ENST00000510552.1_5'Flank			Q15399	TLR1_HUMAN	toll-like receptor 1	568	LRRCT.				cellular response to triacyl bacterial lipopeptide (GO:0071727)|detection of triacyl bacterial lipopeptide (GO:0042495)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|macrophage activation (GO:0042116)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of interleukin-6 biosynthetic process (GO:0045410)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|regulation of cytokine secretion (GO:0050707)|signal transduction (GO:0007165)|toll-like receptor 1 signaling pathway (GO:0034130)	cytoplasmic vesicle (GO:0031410)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|Toll-like receptor 1-Toll-like receptor 2 protein complex (GO:0035354)	protein heterodimerization activity (GO:0046982)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(2)	28						TGTGAAAGTCCTTTAGTAGGG	0.448																																					GBM(5;216 373 40795 46382)	ENST00000308979.2																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(2)	28						c.(1702-1704)aaG>aaA		toll-like receptor 1							127	130	129					4																	38798749		2203	4300	6503	SO:0001819	synonymous_variant	7096				cellular response to triacyl bacterial lipopeptide|detection of triacyl bacterial lipopeptide|inflammatory response|innate immune response|macrophage activation|positive regulation of interleukin-6 biosynthetic process|positive regulation of tumor necrosis factor biosynthetic process	integral to plasma membrane|phagocytic vesicle membrane|Toll-like receptor 1-Toll-like receptor 2 protein complex	protein heterodimerization activity|transmembrane receptor activity	g.chr4:38798749C>T	U88540	CCDS33973.1	4p14	2008-02-05				ENSG00000174125		"CD molecules"	11847	protein-coding gene	gene with protein product		601194				9435236, 7584026	Standard	NM_003263		Approved	rsc786, KIAA0012, CD281	uc003gtl.3	Q15399		ENST00000502213.2:c.1704G>A	4.37:g.38798749C>T						TLR1_ENST00000502213.2_Silent_p.K568K	p.K568K	NM_003263.3	NP_003254.2	Q15399	TLR1_HUMAN			4	1977	-			568			LRRCT.		D1CS39|D1CS41|O15452|Q32MK3|Q32MK4|Q9UG90	Silent	SNP	ENST00000502213.2	37	c.1704G>A	CCDS33973.1																																																																																				0.448	TLR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360510.3			32	111	0	0	0	0.163468	0	32	111					T	38798749	C	T	38798749	2	4	201	1	0	0	0	0	0	0	0	1	15946	680	24	3		3	TLR1	4	38798749	Silent	SNP	C	TCGA-HC-7209-01A-11D-2114-08		38798749	152355527	6	9275											
DCHS2	54798	broad.mit.edu	37	chr4	155158120	155158120	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aagcgtgcttccaaccagagCatcctcacttaggctaagat	12	9	8	12	1	1	2	1	0	0	2	3	2	3	2	3	1	4	3	3	1	4	3			TCGA-HC-7209-01A-11D-2114-08	TCGA-HC-7209-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12dd9452-9a7b-4193-85c7-573b088b1979	77aa04fb-bbf6-4d20-b6c2-e9d4647bf6f6	g.chr4:155158120C>A	ENST00000357232.4	-	25	6318	c.6319G>T	c.(6319-6321)Gct>Tct	p.A2107S		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	2107	Cadherin 19. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		CCAACCAGAGCATCCTCACTT	0.398																																						ENST00000357232.3																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176						c.(6319-6321)Gct>Tct		dachsous cadherin-related 2							157	152	154					4																	155158120		2203	4300	6503	SO:0001583	missense	54798				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:155158120C>A	BC140919	CCDS3785.1, CCDS47150.1	4q32.1	2014-06-04	2013-10-04	2004-09-03		ENSG00000197410		"Cadherins / Cadherin-related"	23111	protein-coding gene	gene with protein product	"cadherin-related family member 7"	612486	"cadherin-like 27", "dachsous 2 (Drosophila)"	CDH27, PCDH23		15003449	Standard	NM_017639		Approved	CDHJ, FLJ20047, PCDHJ, CDHR7	uc003inw.2	Q6V1P9		ENST00000357232.4:c.6319G>T	4.37:g.155158120C>A	ENSP00000349768:p.Ala2107Ser						p.A2107S	NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN		LUSC - Lung squamous cell carcinoma(193;0.107)	25	6318	-	all_hematologic(180;0.208)	Renal(120;0.0854)	2107			Cadherin 19.		B2RU14|E9PC11|Q4W5P9|Q6ZS61|Q9NXU8	Missense_Mutation	SNP	ENST00000357232.4	37	c.6319G>T	CCDS3785.1	.	.	.	.	.	.	.	.	.	.	C	12.05	1.821832	0.32237	.	.	ENSG00000197410	ENST00000357232	T	0.54479	0.57	5.82	-6.9	0.01655	Cadherin (3);Cadherin-like (1);	0.824461	0.10855	N	0.626750	T	0.50377	0.1612	L	0.51422	1.61	0.36047	D	0.840488	P	0.48230	0.907	P	0.51297	0.665	T	0.65907	-0.6054	10	0.56958	D	0.05	.	9.9551	0.41661	0.0:0.3538:0.0923:0.5539	.	2107	Q6V1P9	PCD23_HUMAN	S	2107	ENSP00000349768:A2107S	ENSP00000349768:A2107S	A	-	1	0	DCHS2	155377570	0.261000	0.24063	0.000000	0.03702	0.107000	0.19398	-0.378000	0.07446	-2.269000	0.00684	-0.484000	0.04775	GCT		0.398	DCHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365281.2	NM_001142552		5	207	1	0	2.7689e-08	0.02938	3.15346e-08	5	207					A	155158120	C	A	155158120	3	1	201	1	0	0	0	0	1	0	0	0	4288	710	25	5	2435	5	DCHS2	4	155158120	Missense_Mutation	SNP	C	TCGA-HC-7209-01A-11D-2114-08	116359371	155158120	35996156	7	9276											
RXFP1	59350	broad.mit.edu	37	chr4	159549858	159549858	+	Frame_Shift_Del	DEL	A	A	-																															acctctccagaaactggatgAattgtaagtatgactgaaca																										TCGA-HC-7209-01A-11D-2114-08	TCGA-HC-7209-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12dd9452-9a7b-4193-85c7-573b088b1979	77aa04fb-bbf6-4d20-b6c2-e9d4647bf6f6	g.chr4:159549858delA	ENST00000307765.5	+	11	1147	c.896delA	c.(895-897)gaafs	p.E299fs	RXFP1_ENST00000460056.2_Frame_Shift_Del_p.E218fs|RXFP1_ENST00000343542.5_Frame_Shift_Del_p.E299fs|RXFP1_ENST00000470033.1_Frame_Shift_Del_p.E266fs|RXFP1_ENST00000448688.2_Frame_Shift_Del_p.E194fs	NM_001253727.1|NM_001253728.1|NM_001253730.1|NM_001253732.1|NM_001253733.1|NM_021634.3	NP_001240656.1|NP_001240657.1|NP_001240659.1|NP_001240661.1|NP_001240662.1|NP_067647.2	Q9HBX9	RXFP1_HUMAN	relaxin/insulin-like family peptide receptor 1	299					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cell differentiation (GO:0030154)|extracellular matrix organization (GO:0030198)|lung connective tissue development (GO:0060427)|nipple morphogenesis (GO:0060658)|parturition (GO:0007567)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|hormone binding (GO:0042562)|metal ion binding (GO:0046872)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|liver(2)|lung(22)|prostate(1)|skin(10)	49	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.0219)		AAACTGGATGAATTGTAAGTA	0.264																																						ENST00000307765.5																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|liver(2)|lung(22)|prostate(1)|skin(10)	49						c.(895-897)gafs		relaxin/insulin-like family peptide receptor 1							40	39	39					4																	159549858		1795	4062	5857	SO:0001589	frameshift_variant	59350					integral to membrane|plasma membrane	G-protein coupled receptor activity|metal ion binding	g.chr4:159549858delA	AF190500	CCDS43276.1, CCDS58929.1, CCDS58930.1, CCDS75204.1, CCDS75205.1, CCDS75206.1	4q31.3	2012-08-08	2006-05-09	2006-05-09	ENSG00000171509	ENSG00000171509		"GPCR / Class A : Relaxin family peptide receptors"	19718	protein-coding gene	gene with protein product		606654	"leucine-rich repeat-containing G protein-coupled receptor 7"	LGR7		15956688, 16507880	Standard	NM_021634		Approved	RXFPR1	uc003ipz.3	Q9HBX9	OTTHUMG00000149973	ENST00000307765.5:c.896delA	4.37:g.159549858delA	ENSP00000303248:p.Glu299fs					RXFP1_ENST00000448688.2_Frame_Shift_Del_p.E194fs|RXFP1_ENST00000470033.1_Frame_Shift_Del_p.E266fs|RXFP1_ENST00000343542.5_Frame_Shift_Del_p.E299fs|RXFP1_ENST00000460056.2_Frame_Shift_Del_p.E218fs	p.E299fs	NM_001253727.1|NM_001253728.1|NM_001253730.1|NM_001253732.1|NM_001253733.1|NM_021634.3	NP_001240656.1|NP_001240657.1|NP_001240659.1|NP_001240661.1|NP_001240662.1|NP_067647.2	Q9HBX9	RXFP1_HUMAN		COAD - Colon adenocarcinoma(41;0.0219)	11	1147	+	all_hematologic(180;0.24)	Renal(120;0.0854)	299					B4DHD1|B4DTV2|Q2M215|Q3KU24|Q3KU25|Q3KU26	Frame_Shift_Del	DEL	ENST00000307765.5	37	c.896delA	CCDS43276.1																																																																																				0.264	RXFP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314865.1	NM_021634		11	31						11	31	---	---	---	---	-	159549858	A	-	159549858	7	5	201	1	0	1	0	1	0	0	0	0	13759	246	9	0	938	0	RXFP1	4	159549858	Frame_Shift_Del	DEL	A	TCGA-HC-7209-01A-11D-2114-08	4391738	159549858	31604418	8	9277											
EXOC2	55770	broad.mit.edu	37	chr6	564561	564561	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaccttacagtctggatggCgtgagcgagccactgtccgg	7	9	13	12	3	2	1	1	1	1	0	3	3	3	2	3	3	3	0	3	3	1	1	rs138384447		TCGA-HC-7209-01A-11D-2114-08	TCGA-HC-7209-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12dd9452-9a7b-4193-85c7-573b088b1979	77aa04fb-bbf6-4d20-b6c2-e9d4647bf6f6	g.chr6:564561C>T	ENST00000230449.4	-	15	1786	c.1651G>A	c.(1651-1653)Gcc>Acc	p.A551T	EXOC2_ENST00000448181.3_Missense_Mutation_p.A146T	NM_018303.5	NP_060773.3	Q96KP1	EXOC2_HUMAN	exocyst complex component 2	551					cellular protein metabolic process (GO:0044267)|exocytosis (GO:0006887)|Golgi to plasma membrane transport (GO:0006893)|membrane organization (GO:0061024)|protein transport (GO:0015031)	exocyst (GO:0000145)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|liver(1)|lung(16)|ovary(4)|pancreas(1)|prostate(2)	46	Ovarian(93;0.0733)	Breast(5;0.0014)|all_lung(73;0.0697)|all_hematologic(90;0.0897)		OV - Ovarian serous cystadenocarcinoma(45;0.0507)|BRCA - Breast invasive adenocarcinoma(62;0.14)		GTCTGGATGGCGTGAGCGAGC	0.517																																						ENST00000230449.4																			0				breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|liver(1)|lung(16)|ovary(4)|pancreas(1)|prostate(2)	46						c.(1651-1653)Gcc>Acc		exocyst complex component 2		C	THR/ALA	1,4405	2.1+/-5.4	0,1,2202	82	82	82		1651	5.4	0.7	6	dbSNP_134	82	0,8600		0,0,4300	no	missense	EXOC2	NM_018303.4	58	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign	551/925	564561	1,13005	2203	4300	6503	SO:0001583	missense	55770				exocytosis|protein transport			g.chr6:564561C>T	AJ420556	CCDS34327.1	6p25.3	2013-01-22	2005-11-01	2005-11-01	ENSG00000112685	ENSG00000112685			24968	protein-coding gene	gene with protein product		615329	"SEC5-like 1 (S. cerevisiae)"	SEC5L1		12575951, 12459492	Standard	NM_018303		Approved	FLJ11026, Sec5p	uc003mtd.4	Q96KP1	OTTHUMG00000137437	ENST00000230449.4:c.1651G>A	6.37:g.564561C>T	ENSP00000230449:p.Ala551Thr					EXOC2_ENST00000448181.3_Missense_Mutation_p.A146T	p.A551T	NM_018303.4	NP_060773.3	Q96KP1	EXOC2_HUMAN		OV - Ovarian serous cystadenocarcinoma(45;0.0507)|BRCA - Breast invasive adenocarcinoma(62;0.14)	15	1786	-	Ovarian(93;0.0733)	Breast(5;0.0014)|all_lung(73;0.0697)|all_hematologic(90;0.0897)	551					B2RBE6|Q5JPC8|Q96AN6|Q9NUZ8|Q9UJM7	Missense_Mutation	SNP	ENST00000230449.4	37	c.1651G>A	CCDS34327.1	.	.	.	.	.	.	.	.	.	.	C	11.59	1.684460	0.29872	2.27E-4	0.0	ENSG00000112685	ENST00000230449;ENST00000448181	T	0.46819	0.86	5.43	5.43	0.79202	.	0.170525	0.52532	D	0.000065	T	0.16128	0.0388	N	0.08118	0	0.28231	N	0.926125	B	0.09022	0.002	B	0.06405	0.002	T	0.05666	-1.0871	10	0.29301	T	0.29	-16.1058	19.2388	0.93873	0.0:1.0:0.0:0.0	.	551	Q96KP1	EXOC2_HUMAN	T	551;146	ENSP00000230449:A551T	ENSP00000230449:A551T	A	-	1	0	EXOC2	509561	0.995000	0.38212	0.737000	0.30932	0.002000	0.02628	2.882000	0.48546	2.549000	0.85964	0.591000	0.81541	GCC		0.517	EXOC2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039627.1	NM_018303		26	93	0	0	0	0.183431	0	26	93					T	564561	C	T	564561	3	4	201	1	0	0	0	0	1	0	0	0	5302	768	27	1	1179	1	EXOC2	6	564561	Missense_Mutation	SNP	C	TCGA-HC-7209-01A-11D-2114-08		564561	170550506	9	9278											
C7orf51	222950	broad.mit.edu	37	chr7	100084560	100084560	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcaggatgggtttcatgaCgatgcccgcctcccaggagc	7	8	12	14	2	2	1	2	1	0	0	3	4	3	3	4	3	2	1	4	3	0	1			TCGA-HC-7209-01A-11D-2114-08	TCGA-HC-7209-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12dd9452-9a7b-4193-85c7-573b088b1979	77aa04fb-bbf6-4d20-b6c2-e9d4647bf6f6	g.chr7:100084560C>T	ENST00000300179.2	+	3	344	c.185C>T	c.(184-186)aCg>aTg	p.T62M	NYAP1_ENST00000423930.1_Missense_Mutation_p.T62M|NYAP1_ENST00000454988.1_Missense_Mutation_p.T5M	NM_173564.2	NP_775835.2	Q6ZVC0	NYAP1_HUMAN	neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 1	62					neuron projection morphogenesis (GO:0048812)|phosphatidylinositol 3-kinase signaling (GO:0014065)												GGTTTCATGACGATGCCCGCC	0.751																																						ENST00000423930.1																			0											c.(184-186)aCg>aTg		neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 1							9	11	11					7																	100084560		2166	4254	6420	SO:0001583	missense	222950							g.chr7:100084560C>T	AK094857	CCDS5696.1	7q22.1	2011-11-30	2011-11-30	2011-11-30	ENSG00000166924	ENSG00000166924			22009	protein-coding gene	gene with protein product		615477	"chromosome 7 open reading frame 51", "KIAA1486-like"	C7orf51, KIAA1486L		21946561	Standard	NM_173564		Approved	FLJ37538	uc003uvd.2	Q6ZVC0	OTTHUMG00000155290	ENST00000300179.2:c.185C>T	7.37:g.100084560C>T	ENSP00000300179:p.Thr62Met					NYAP1_ENST00000454988.1_Missense_Mutation_p.T5M|NYAP1_ENST00000300179.2_Missense_Mutation_p.T62M	p.T62M			Q6ZVC0	CG051_HUMAN			3	344	+			62					Q6U9Y3|Q8N1V0	Missense_Mutation	SNP	ENST00000300179.2	37	c.185C>T	CCDS5696.1	.	.	.	.	.	.	.	.	.	.	C	26.7	4.766953	0.90020	.	.	ENSG00000166924	ENST00000300179;ENST00000423930;ENST00000454988	T;T;T	0.50813	0.73;0.73;0.73	5.03	5.03	0.67393	.	0.000000	0.52532	D	0.000069	T	0.65481	0.2695	L	0.57536	1.79	0.58432	D	0.999999	D	0.89917	1.0	D	0.87578	0.998	T	0.67891	-0.5553	10	0.87932	D	0	-14.223	15.8881	0.79269	0.0:1.0:0.0:0.0	.	62	Q6ZVC0	CG051_HUMAN	M	62;62;5	ENSP00000300179:T62M;ENSP00000411861:T62M;ENSP00000394424:T5M	ENSP00000300179:T62M	T	+	2	0	C7orf51	99922496	1.000000	0.71417	0.995000	0.50966	0.980000	0.70556	6.628000	0.74262	2.606000	0.88127	0.462000	0.41574	ACG		0.751	NYAP1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000339335.2	NM_173564		4	11	0	0	0	0.021553	0	4	11					T	100084560	C	T	100084560	3	4	201	1	0	0	0	0	1	0	0	0	2400	536	19	1	191	1	C7orf51	7	100084560	Missense_Mutation	SNP	C	TCGA-HC-7209-01A-11D-2114-08		100084560	59054103	10	9279											
RELN	5649	broad.mit.edu	37	chr7	103179597	103179597	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggaatcctcattcacggcaaCgtctgtgctgaccacgtaac	10	9	9	13	3	3	1	2	1	1	0	4	2	4	2	2	2	3	3	2	2	3	2			TCGA-HC-7209-01A-11D-2114-08	TCGA-HC-7209-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12dd9452-9a7b-4193-85c7-573b088b1979	77aa04fb-bbf6-4d20-b6c2-e9d4647bf6f6	g.chr7:103179597C>T	ENST00000428762.1	-	45	7267	c.7108G>A	c.(7108-7110)Gtt>Att	p.V2370I	RELN_ENST00000424685.2_Missense_Mutation_p.V2370I|RELN_ENST00000343529.5_Missense_Mutation_p.V2370I	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	2370					associative learning (GO:0008306)|axon guidance (GO:0007411)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|central nervous system development (GO:0007417)|cerebral cortex tangential migration (GO:0021800)|dendrite development (GO:0016358)|glial cell differentiation (GO:0010001)|hippocampus development (GO:0021766)|lateral motor column neuron migration (GO:0097477)|layer formation in cerebral cortex (GO:0021819)|long-term memory (GO:0007616)|N-methyl-D-aspartate receptor clustering (GO:0097114)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of lateral motor column neuron migration (GO:1902078)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of TOR signaling (GO:0032008)|postsynaptic density protein 95 clustering (GO:0097119)|receptor localization to synapse (GO:0097120)|reelin-mediated signaling pathway (GO:0038026)|regulation of behavior (GO:0050795)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of synaptic transmission (GO:0050804)|response to pain (GO:0048265)|spinal cord patterning (GO:0021511)|ventral spinal cord development (GO:0021517)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	lipoprotein particle receptor binding (GO:0070325)|metal ion binding (GO:0046872)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|serine-type peptidase activity (GO:0008236)|very-low-density lipoprotein particle receptor binding (GO:0070326)			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		TTCACGGCAACGTCTGTGCTG	0.542																																					NSCLC(146;835 1944 15585 22231 52158)	ENST00000424685.2																			0				NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227						c.(7108-7110)Gtt>Att		reelin							115	96	102					7																	103179597		2203	4300	6503	SO:0001583	missense	5649				axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity	g.chr7:103179597C>T		CCDS34722.1, CCDS47680.1	7q22	2008-07-18			ENSG00000189056	ENSG00000189056			9957	protein-coding gene	gene with protein product		600514				9049633	Standard	NM_005045		Approved	RL, PRO1598	uc010liz.3	P78509	OTTHUMG00000157247	ENST00000428762.1:c.7108G>A	7.37:g.103179597C>T	ENSP00000392423:p.Val2370Ile					RELN_ENST00000343529.5_Missense_Mutation_p.V2370I|RELN_ENST00000428762.1_Missense_Mutation_p.V2370I	p.V2370I			P78509	RELN_HUMAN		COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)	45	7267	-			2370					A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Missense_Mutation	SNP	ENST00000428762.1	37	c.7108G>A	CCDS47680.1	.	.	.	.	.	.	.	.	.	.	C	2.372	-0.344039	0.05208	.	.	ENSG00000189056	ENST00000428762;ENST00000343529;ENST00000424685;ENST00000448171	T;T;T	0.22539	1.95;1.95;1.95	5.35	1.74	0.24563	Neuraminidase (1);	0.243687	0.41194	N	0.000939	T	0.04724	0.0128	N	0.00879	-1.12	0.24075	N	0.995964	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.001	T	0.43410	-0.9393	10	0.02654	T	1	.	8.7426	0.34567	0.0:0.2181:0.0:0.7819	.	2370;2370	P78509-2;P78509	.;RELN_HUMAN	I	2370	ENSP00000392423:V2370I;ENSP00000345694:V2370I;ENSP00000388446:V2370I	ENSP00000345694:V2370I	V	-	1	0	RELN	102966833	1.000000	0.71417	0.928000	0.36995	0.895000	0.52256	1.697000	0.37784	0.361000	0.24292	-0.238000	0.12139	GTT		0.542	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348148.1	NM_005045		7	46	0	0	0	0.047766	0	7	46					T	103179597	C	T	103179597	3	4	201	1	0	0	0	0	1	0	0	0	13220	536	19	1	3358	1	RELN	7	103179597	Missense_Mutation	SNP	C	TCGA-HC-7209-01A-11D-2114-08	3095037	103179597	55959066	11	9280											
KIFC2	90990	broad.mit.edu	37	chr8	145697577	145697577	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctgcagtcgctgttccgggaGatgggggccggccggcagca	5	6	18	12	4	0	1	0	0	0	1	2	2	1	1	3	5	2	5	3	5	0	1			TCGA-HC-7209-01A-11D-2114-08	TCGA-HC-7209-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12dd9452-9a7b-4193-85c7-573b088b1979	77aa04fb-bbf6-4d20-b6c2-e9d4647bf6f6	g.chr8:145697577G>A	ENST00000301332.2	+	14	1919	c.1542G>A	c.(1540-1542)gaG>gaA	p.E514E	FOXH1_ENST00000525197.1_5'Flank|KIFC2_ENST00000301331.5_Silent_p.E262E|KIFC2_ENST00000531423.1_3'UTR	NM_145754.2	NP_665697.1	Q96AC6	KIFC2_HUMAN	kinesin family member C2	514	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(7)|ovary(3)|prostate(3)|skin(2)|urinary_tract(1)	19	all_cancers(97;4.61e-11)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;8.67e-41)|all cancers(56;1.1e-35)|BRCA - Breast invasive adenocarcinoma(115;0.035)|Colorectal(110;0.055)			TGTTCCGGGAGATGGGGGCCG	0.652																																						ENST00000301332.2																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|lung(7)|ovary(3)|prostate(3)|skin(2)|urinary_tract(1)	19						c.(1540-1542)gaG>gaA		kinesin family member C2							37	43	41					8																	145697577		2202	4300	6502	SO:0001819	synonymous_variant	90990				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein binding	g.chr8:145697577G>A	AY007121	CCDS6427.1	8q24.3	2007-02-13			ENSG00000167702	ENSG00000167702		"Kinesins"	29530	protein-coding gene	gene with protein product						9115737	Standard	NM_145754		Approved		uc003zcz.3	Q96AC6	OTTHUMG00000165133	ENST00000301332.2:c.1542G>A	8.37:g.145697577G>A						KIFC2_ENST00000531423.1_3'UTR|KIFC2_ENST00000301331.5_Silent_p.E262E	p.E514E	NM_145754.2	NP_665697.1	Q96AC6	KIFC2_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;8.67e-41)|all cancers(56;1.1e-35)|BRCA - Breast invasive adenocarcinoma(115;0.035)|Colorectal(110;0.055)		14	1919	+	all_cancers(97;4.61e-11)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		514			Kinesin-motor.		E9PHB2|Q96NN6	Silent	SNP	ENST00000301332.2	37	c.1542G>A	CCDS6427.1	.	.	.	.	.	.	.	.	.	.	G	9.416	1.081772	0.20309	.	.	ENSG00000167702	ENST00000528415	.	.	.	5.07	1.27	0.21489	.	.	.	.	.	T	0.45776	0.1359	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.23511	-1.0186	4	.	.	.	-26.8143	3.6966	0.08367	0.345:0.0:0.4918:0.1632	.	.	.	.	N	335	.	.	D	+	1	0	KIFC2	145668385	1.000000	0.71417	0.998000	0.56505	0.985000	0.73830	2.537000	0.45702	0.049000	0.15920	0.591000	0.81541	GAT		0.652	KIFC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382052.2	NM_145754		3	74	0	0	0	0.150653	0	3	74					A	145697577	G	A	145697577	2	1	201	1	0	0	0	0	0	0	0	1	8313	933	33	3		3	KIFC2	8	145697577	Silent	SNP	G	TCGA-HC-7209-01A-11D-2114-08		145697577	666445	12	9281											
ABL1	25	broad.mit.edu	37	chr9	133753877	133753877	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aattgacctgtcccaggtgtAtgagctgctagagaaggact	11	10	12	8	0	0	3	0	2	0	1	1	5	1	4	2	2	2	3	2	2	4	3			TCGA-HC-7209-01A-11D-2114-08	TCGA-HC-7209-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12dd9452-9a7b-4193-85c7-573b088b1979	77aa04fb-bbf6-4d20-b6c2-e9d4647bf6f6	g.chr9:133753877A>G	ENST00000318560.5	+	8	1727	c.1346A>G	c.(1345-1347)tAt>tGt	p.Y449C		NM_005157.4	NP_005148.2	P00519	ABL1_HUMAN	ABL proto-oncogene 1, non-receptor tyrosine kinase	449	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				actin cytoskeleton organization (GO:0030036)|autophagy (GO:0006914)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cellular protein modification process (GO:0006464)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to dopamine (GO:1903351)|cellular response to oxidative stress (GO:0034599)|DNA damage induced protein phosphorylation (GO:0006975)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|mismatch repair (GO:0006298)|mitochondrial depolarization (GO:0051882)|mitotic nuclear division (GO:0007067)|muscle cell differentiation (GO:0042692)|negative regulation of phospholipase C activity (GO:1900275)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|negative regulation of ubiquitin-protein transferase activity (GO:0051444)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of oxidoreductase activity (GO:0051353)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of autophagy (GO:0010506)|regulation of cell adhesion (GO:0030155)|regulation of cell motility (GO:2000145)|regulation of endocytosis (GO:0030100)|regulation of response to DNA damage stimulus (GO:2001020)|regulation of transcription, DNA-templated (GO:0006355)|response to oxidative stress (GO:0006979)|signal transduction in response to DNA damage (GO:0042770)	actin cytoskeleton (GO:0015629)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	actin monomer binding (GO:0003785)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|mitogen-activated protein kinase binding (GO:0051019)|nicotinate-nucleotide adenylyltransferase activity (GO:0004515)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|proline-rich region binding (GO:0070064)|protein C-terminus binding (GO:0008022)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)|SH3 domain binding (GO:0017124)|syntaxin binding (GO:0019905)			breast(3)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1149)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	1195		all_hematologic(13;0.0361)|Acute lymphoblastic leukemia(5;0.0543)|Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.4e-05)	Adenosine triphosphate(DB00171)|Bosutinib(DB06616)|Dasatinib(DB01254)|Imatinib(DB00619)|Nilotinib(DB04868)|Ponatinib(DB08901)|Regorafenib(DB08896)	TCCCAGGTGTATGAGCTGCTA	0.507			"T, Mis"	"BCR, ETV6, NUP214"	"CML, ALL, T-ALL"																																	ENST00000318560.5				Dom	yes		9	9q34.1	25	"T, Mis"	v-abl Abelson murine leukemia viral oncogene homolog 1			L	"BCR, ETV6, NUP214"		"CML, ALL, T-ALL"		0				breast(3)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1149)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	1195						c.(1345-1347)tAt>tGt		c-abl oncogene 1, non-receptor tyrosine kinase	Adenosine triphosphate(DB00171)|Dasatinib(DB01254)|Imatinib(DB00619)						174	170	171					9																	133753877		2203	4300	6503	SO:0001583	missense	25				actin cytoskeleton organization|axon guidance|blood coagulation|cell adhesion|DNA damage induced protein phosphorylation|DNA damage response, signal transduction resulting in induction of apoptosis|mismatch repair|muscle cell differentiation|negative regulation of protein serine/threonine kinase activity|peptidyl-tyrosine phosphorylation|positive regulation of muscle cell differentiation|positive regulation of oxidoreductase activity|regulation of transcription involved in S phase of mitotic cell cycle	cytoskeleton|cytosol|nuclear membrane|nucleolus|perinuclear region of cytoplasm	ATP binding|DNA binding|magnesium ion binding|manganese ion binding|mitogen-activated protein kinase binding|non-membrane spanning protein tyrosine kinase activity|proline-rich region binding|protein C-terminus binding|SH3 domain binding	g.chr9:133753877A>G	M14752	CCDS35165.1, CCDS35166.1	9q34.1	2014-09-17	2014-06-26		ENSG00000097007	ENSG00000097007		"SH2 domain containing"	76	protein-coding gene	gene with protein product		189980	"v-abl Abelson murine leukemia viral oncogene homolog 1", "c-abl oncogene 1, receptor tyrosine kinase", "c-abl oncogene 1, non-receptor tyrosine kinase"	ABL		1857987, 12626632	Standard	NM_007313		Approved	JTK7, c-ABL, p150	uc004bzv.3	P00519	OTTHUMG00000020813	ENST00000318560.5:c.1346A>G	9.37:g.133753877A>G	ENSP00000323315:p.Tyr449Cys						p.Y449C	NM_005157.4	NP_005148.2	P00519	ABL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.4e-05)	8	1727	+		all_hematologic(13;0.0361)|Acute lymphoblastic leukemia(5;0.0543)|Myeloproliferative disorder(178;0.204)	449			Protein kinase.		A3KFJ3|Q13869|Q13870|Q16133|Q17R61|Q45F09	Missense_Mutation	SNP	ENST00000318560.5	37	c.1346A>G	CCDS35166.1	.	.	.	.	.	.	.	.	.	.	A	25.0	4.596272	0.86953	.	.	ENSG00000097007	ENST00000444970;ENST00000372348;ENST00000318560	T;T	0.63096	-0.02;-0.02	5.16	5.16	0.70880	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.128125	0.53938	D	0.000041	T	0.70579	0.3240	L	0.37466	1.105	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.74348	0.971;0.983	T	0.74134	-0.3763	10	0.87932	D	0	.	14.4656	0.67482	1.0:0.0:0.0:0.0	.	449;486	P00519;Q59FK4	ABL1_HUMAN;.	C	264;468;449	ENSP00000361423:Y468C;ENSP00000323315:Y449C	ENSP00000323315:Y449C	Y	+	2	0	ABL1	132743698	1.000000	0.71417	0.991000	0.47740	0.946000	0.59487	9.287000	0.95975	2.073000	0.62155	0.533000	0.62120	TAT		0.507	ABL1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054684.1	NM_007313		62	178	0	0	0	0.139131	0	62	178					G	133753877	A	G	133753877	3	3	201	1	0	0	0	0	1	0	0	0	92	449	16	4	1516	4	ABL1	9	133753877	Missense_Mutation	SNP	A	TCGA-HC-7209-01A-11D-2114-08		133753877	7459554	13	9282											
LDB3	11155	broad.mit.edu	37	chr10	88447004	88447004	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atgccatcgctgggcaggccCaagcccaaggcagtgacttc	9	6	12	14	1	0	1	0	1	0	0	2	1	0	1	3	3	2	3	3	3	2	1			TCGA-HC-7209-01A-11D-2114-08	TCGA-HC-7209-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12dd9452-9a7b-4193-85c7-573b088b1979	77aa04fb-bbf6-4d20-b6c2-e9d4647bf6f6	g.chr10:88447004C>T	ENST00000372066.3	+	5	602	c.523C>T	c.(523-525)Caa>Taa	p.Q175*	LDB3_ENST00000263066.6_Nonsense_Mutation_p.Q175*|LDB3_ENST00000310944.6_Intron|LDB3_ENST00000542786.1_3'UTR|LDB3_ENST00000361373.4_Intron|LDB3_ENST00000429277.2_Nonsense_Mutation_p.Q290*|LDB3_ENST00000352360.5_Intron|LDB3_ENST00000372056.4_Nonsense_Mutation_p.Q290*|LDB3_ENST00000458213.2_Nonsense_Mutation_p.Q175*	NM_001080116.1	NP_001073585.1			LIM domain binding 3											breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|soft_tissue(1)	25						TGGGCAGGCCCAAGCCCAAGG	0.637																																						ENST00000429277.2																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|soft_tissue(1)	25						c.(868-870)Caa>Taa		LIM domain binding 3							89	104	99					10																	88447004		2168	4253	6421	SO:0001587	stop_gained	11155					cytoskeleton|perinuclear region of cytoplasm|pseudopodium	zinc ion binding	g.chr10:88447004C>T	AB014513	CCDS7377.1, CCDS41544.1, CCDS41545.1, CCDS53549.1, CCDS53550.1	10q22.3-q23.2	2014-09-17			ENSG00000122367	ENSG00000122367			15710	protein-coding gene	gene with protein product	"cypher", "oracle", "Z-band alternatively spliced PDZ motif protein"	605906	"cardiomyopathy, dilated 1C (autosomal dominant)"	CMD1C		10427098, 23271734, 23996002, 14662268	Standard	NM_001080114		Approved	PDLIM6, KIAA0613, ZASP	uc001kdv.3	O75112	OTTHUMG00000018655	ENST00000372066.3:c.523C>T	10.37:g.88447004C>T	ENSP00000361136:p.Gln175*					LDB3_ENST00000310944.6_Intron|LDB3_ENST00000372056.4_Nonsense_Mutation_p.Q290*|LDB3_ENST00000542786.1_3'UTR|LDB3_ENST00000352360.5_Intron|LDB3_ENST00000263066.6_Nonsense_Mutation_p.Q175*|LDB3_ENST00000361373.4_Intron|LDB3_ENST00000372066.3_Nonsense_Mutation_p.Q175*|LDB3_ENST00000458213.2_Nonsense_Mutation_p.Q175*	p.Q290*	NM_001171610.1	NP_001165081.1	O75112	LDB3_HUMAN			6	1013	+			280						Nonsense_Mutation	SNP	ENST00000372066.3	37	c.868C>T	CCDS41545.1	.	.	.	.	.	.	.	.	.	.	C	37	6.246965	0.97408	.	.	ENSG00000122367	ENST00000429277;ENST00000458213;ENST00000372066;ENST00000263066;ENST00000372056	.	.	.	5.14	5.14	0.70334	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.10902	T	0.67	.	18.6007	0.91247	0.0:1.0:0.0:0.0	.	.	.	.	X	290;175;175;175;290	.	ENSP00000263066:Q175X	Q	+	1	0	LDB3	88436984	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	7.798000	0.85924	2.407000	0.81776	0.462000	0.41574	CAA		0.637	LDB3-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000049161.1			21	82	0	0	0	0.069288	0	21	82					T	88447004	C	T	88447004	4	4	201	1	0	0	0	0	0	1	0	0	8697	595	21	3	913	3	LDB3	10	88447004	Nonsense_Mutation	SNP	C	TCGA-HC-7209-01A-11D-2114-08		88447004	47087743	14	9283											
CCDC15	80071	broad.mit.edu	37	chr11	124857585	124857585	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tagagaccagcatgttctccCcaaagaccaagatattctgc	13	9	7	12	0	2	3	0	0	2	3	3	4	2	3	4	0	2	2	4	0	4	4	rs112861775	byFrequency	TCGA-HC-7209-01A-11D-2114-08	TCGA-HC-7209-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12dd9452-9a7b-4193-85c7-573b088b1979	77aa04fb-bbf6-4d20-b6c2-e9d4647bf6f6	g.chr11:124857585C>A	ENST00000344762.5	+	8	1722	c.1463C>A	c.(1462-1464)cCc>cAc	p.P488H	CCDC15_ENST00000529051.1_Missense_Mutation_p.P488H	NM_025004.2	NP_079280.2	Q0P6D6	CCD15_HUMAN	coiled-coil domain containing 15	488						centrosome (GO:0005813)				central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(1)	23	all_hematologic(175;0.215)	Breast(109;0.00222)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.68e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0413)		CATGTTCTCCCCAAAGACCAA	0.403																																						ENST00000529051.1																			0				central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(1)	23						c.(1462-1464)cCc>cAc		coiled-coil domain containing 15							139	131	133					11																	124857585		1815	4070	5885	SO:0001583	missense	80071					centrosome		g.chr11:124857585C>A	BC018540	CCDS44756.1	11q24.2	2008-02-05			ENSG00000149548	ENSG00000149548			25798	protein-coding gene	gene with protein product							Standard	NM_025004		Approved	FLJ13215	uc001qbm.4	Q0P6D6	OTTHUMG00000165940	ENST00000344762.5:c.1463C>A	11.37:g.124857585C>A	ENSP00000341684:p.Pro488His					CCDC15_ENST00000344762.5_Missense_Mutation_p.P488H	p.P488H			Q0P6D6	CCD15_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.68e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0413)	8	1722	+	all_hematologic(175;0.215)	Breast(109;0.00222)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	488					Q9H8U7	Missense_Mutation	SNP	ENST00000344762.5	37	c.1463C>A	CCDS44756.1	.	.	.	.	.	.	.	.	.	.	C	11.37	1.620062	0.28801	.	.	ENSG00000149548	ENST00000529051;ENST00000344762	T;T	0.32515	1.45;1.46	2.6	-0.521	0.11931	.	0.245643	0.21458	N	0.074211	T	0.30759	0.0775	L	0.37850	1.14	0.09310	N	1	D	0.61697	0.99	P	0.55824	0.785	T	0.12451	-1.0547	10	0.54805	T	0.06	6.3288	6.1694	0.20408	0.0:0.4625:0.0:0.5375	.	488	Q0P6D6	CCD15_HUMAN	H	488	ENSP00000435403:P488H;ENSP00000341684:P488H	ENSP00000341684:P488H	P	+	2	0	CCDC15	124362795	0.000000	0.05858	0.003000	0.11579	0.027000	0.11550	0.006000	0.13152	-0.080000	0.12685	-0.640000	0.03970	CCC		0.403	CCDC15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387131.1	NM_025004		5	141	1	0	0.014758	0.014758	0.0155148	5	141					A	124857585	C	A	124857585	3	1	201	1	0	0	0	0	1	0	0	0	2784	623	22	5	1489	5	CCDC15	11	124857585	Missense_Mutation	SNP	C	TCGA-HC-7209-01A-11D-2114-08		124857585	10148931	15	9284											
ZNF828	283489	broad.mit.edu	37	chr13	115090966	115090966	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agaagcacgcaaacgtgcccTttttccagagccccggaagc	11	6	10	14	3	0	2	0	0	0	2	1	3	1	3	4	1	5	2	4	1	3	2			TCGA-HC-7209-01A-11D-2114-08	TCGA-HC-7209-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12dd9452-9a7b-4193-85c7-573b088b1979	77aa04fb-bbf6-4d20-b6c2-e9d4647bf6f6	g.chr13:115090966T>C	ENST00000361283.1	+	3	1958	c.1649T>C	c.(1648-1650)cTt>cCt	p.L550P		NM_001164144.1|NM_001164145.1|NM_032436.2	NP_001157616.1|NP_001157617.1|NP_115812.1	Q96JM3	CHAP1_HUMAN	chromosome alignment maintaining phosphoprotein 1	550	Mediates localization to the spindle and the kinetochore and is required for the attachment of spindle microtubules to the kinetochore.|Pro-rich.				attachment of spindle microtubules to kinetochore involved in mitotic sister chromatid segregation (GO:0051315)|protein localization to kinetochore (GO:0034501)|protein localization to microtubule (GO:0035372)|sister chromatid biorientation (GO:0031134)	condensed chromosome (GO:0000793)|condensed chromosome kinetochore (GO:0000777)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|spindle (GO:0005819)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)										AAACGTGCCCTTTTTCCAGAG	0.517																																						ENST00000361283.1																			0											c.(1648-1650)cTt>cCt		chromosome alignment maintaining phosphoprotein 1							211	240	230					13																	115090966		2203	4300	6503	SO:0001583	missense	283489				attachment of spindle microtubules to kinetochore involved in mitotic sister chromatid segregation|protein localization to kinetochore|protein localization to microtubule|sister chromatid biorientation	condensed chromosome kinetochore|cytoplasm|nucleus|spindle	nucleic acid binding|protein binding|zinc ion binding	g.chr13:115090966T>C	AK074894	CCDS9545.1	13q34	2013-01-07	2011-10-07	2011-10-07	ENSG00000198824	ENSG00000198824		"Zinc fingers, C2H2-type"	20311	protein-coding gene	gene with protein product	"chromosome alignment-maintaining phosphoprotein"		"chromosome 13 open reading frame 8", "zinc finger protein 828"	C13orf8, ZNF828		21063390	Standard	NM_032436		Approved	CAMP, CHAMP	uc010ahb.3	Q96JM3	OTTHUMG00000017404	ENST00000361283.1:c.1649T>C	13.37:g.115090966T>C	ENSP00000354730:p.Leu550Pro						p.L550P	NM_001164144.1|NM_001164145.1|NM_032436.2	NP_001157616.1|NP_001157617.1|NP_115812.1	Q96JM3	ZN828_HUMAN			3	1958	+			550			Mediates localization to the spindle and the kinetochore and is required for the attachment of spindle microtubules to the kinetochore.|Pro-rich.		B3KU06|Q6P181|Q8NC88|Q9BST0	Missense_Mutation	SNP	ENST00000361283.1	37	c.1649T>C	CCDS9545.1	.	.	.	.	.	.	.	.	.	.	T	16.08	3.020892	0.54576	.	.	ENSG00000198824	ENST00000361283	T	0.01902	4.57	5.59	5.59	0.84812	.	0.000000	0.51477	D	0.000081	T	0.07188	0.0182	M	0.65498	2.005	0.58432	D	0.999996	P	0.51537	0.946	P	0.51777	0.679	T	0.19257	-1.0311	9	.	.	.	-17.4144	14.3423	0.66636	0.0:0.0:0.0:1.0	.	550	Q96JM3	ZN828_HUMAN	P	550	ENSP00000354730:L550P	.	L	+	2	0	ZNF828	114109068	0.995000	0.38212	0.981000	0.43875	0.990000	0.78478	3.159000	0.50731	2.126000	0.65437	0.528000	0.53228	CTT		0.517	CHAMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045977.2	NM_032436		5	328	0	0	0	0.021553	0	5	328					C	115090966	T	C	115090966	3	2	201	1	0	0	0	0	1	0	0	0	18178	1609	56	4	1651	4	ZNF828	13	115090966	Missense_Mutation	SNP	T	TCGA-HC-7209-01A-11D-2114-08		115090966	78912	16	9285											
C14orf159	80017	broad.mit.edu	37	chr14	91655506	91655506	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gaagattgttgaagatgctgTtgagcaaggtaagcagtgag	13	10	15	3	0	0	5	0	3	0	2	0	6	0	5	0	1	3	6	0	1	4	4			TCGA-HC-7209-01A-11D-2114-08	TCGA-HC-7209-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12dd9452-9a7b-4193-85c7-573b088b1979	77aa04fb-bbf6-4d20-b6c2-e9d4647bf6f6	g.chr14:91655506T>G	ENST00000523771.1	+	9	1775	c.1172T>G	c.(1171-1173)gTt>gGt	p.V391G	C14orf159_ENST00000523816.1_Missense_Mutation_p.V391G|C14orf159_ENST00000412671.2_Missense_Mutation_p.V396G|C14orf159_ENST00000518868.1_Missense_Mutation_p.V396G|C14orf159_ENST00000522322.1_Missense_Mutation_p.V391G|C14orf159_ENST00000256324.10_Missense_Mutation_p.V396G|C14orf159_ENST00000525393.2_Missense_Mutation_p.V267G|C14orf159_ENST00000428926.2_Missense_Mutation_p.V391G|C14orf159_ENST00000521077.2_Missense_Mutation_p.V396G|C14orf159_ENST00000520328.1_Missense_Mutation_p.V379G			Q7Z3D6	CN159_HUMAN	chromosome 14 open reading frame 159	391						mitochondrion (GO:0005739)				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	21		all_cancers(154;0.0191)|all_epithelial(191;0.241)		Epithelial(152;0.141)|OV - Ovarian serous cystadenocarcinoma(161;0.207)		GAAGATGCTGTTGAGCAAGGT	0.532																																						ENST00000518868.1																			0				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	21						c.(1186-1188)gTt>gGt		chromosome 14 open reading frame 159							96	78	84					14																	91655506		2203	4300	6503	SO:0001583	missense	80017					mitochondrion		g.chr14:91655506T>G	AK097294	CCDS32141.1, CCDS41979.1, CCDS45150.1, CCDS66693.1, CCDS73677.1	14q32.11	2012-09-26			ENSG00000133943	ENSG00000133943			20498	protein-coding gene	gene with protein product							Standard	NM_001102367		Approved	FLJ39975	uc001xze.2	Q7Z3D6	OTTHUMG00000164980	ENST00000523771.1:c.1172T>G	14.37:g.91655506T>G	ENSP00000429655:p.Val391Gly					C14orf159_ENST00000525393.2_Missense_Mutation_p.V267G|C14orf159_ENST00000256324.10_Missense_Mutation_p.V396G|C14orf159_ENST00000521077.2_Missense_Mutation_p.V396G|C14orf159_ENST00000520328.1_Missense_Mutation_p.V379G|C14orf159_ENST00000523771.1_Missense_Mutation_p.V391G|C14orf159_ENST00000412671.2_Missense_Mutation_p.V396G|C14orf159_ENST00000523816.1_Missense_Mutation_p.V391G|C14orf159_ENST00000428926.2_Missense_Mutation_p.V391G|C14orf159_ENST00000522322.1_Missense_Mutation_p.V391G	p.V396G			Q7Z3D6	CN159_HUMAN		Epithelial(152;0.141)|OV - Ovarian serous cystadenocarcinoma(161;0.207)	12	1877	+		all_cancers(154;0.0191)|all_epithelial(191;0.241)	391					B3KUI7|Q86SW3|Q86SX8|Q86SX9|Q86T08|Q86TV5|Q96GW5|Q9H7G0|Q9H8Y9|Q9H9W6	Missense_Mutation	SNP	ENST00000523771.1	37	c.1187T>G	CCDS32141.1	.	.	.	.	.	.	.	.	.	.	T	12.36	1.913778	0.33815	.	.	ENSG00000133943	ENST00000520328;ENST00000256324;ENST00000521077;ENST00000518868;ENST00000523816;ENST00000517518;ENST00000525393;ENST00000428926;ENST00000522322;ENST00000523771;ENST00000412671	T;T;T;T;T;T;T;T;T;T;T	0.15139	2.45;2.45;2.45;2.45;2.45;2.45;2.45;2.45;2.45;2.45;2.45	4.82	3.67	0.42095	.	0.642001	0.15202	N	0.274969	T	0.36496	0.0969	M	0.69248	2.105	0.23346	N	0.997864	D;D;D;P;D;D	0.63880	0.984;0.993;0.991;0.95;0.98;0.98	P;D;P;P;P;P	0.65573	0.81;0.936;0.906;0.625;0.711;0.711	T	0.10683	-1.0619	10	0.87932	D	0	.	10.3142	0.43727	0.0:0.0787:0.0:0.9213	.	391;267;396;379;396;396	Q7Z3D6;Q8NB88;B3KVU6;Q7Z3D6-5;Q7Z3D6-2;Q7Z3D6-3	CN159_HUMAN;.;.;.;.;.	G	379;396;396;396;391;396;267;391;391;391;396	ENSP00000429453:V379G;ENSP00000256324:V396G;ENSP00000430137:V396G;ENSP00000428263:V396G;ENSP00000428974:V391G;ENSP00000428652:V396G;ENSP00000435459:V267G;ENSP00000404343:V391G;ENSP00000427953:V391G;ENSP00000429655:V391G;ENSP00000404196:V396G	ENSP00000256324:V396G	V	+	2	0	C14orf159	90725259	0.988000	0.35896	0.001000	0.08648	0.248000	0.25809	4.627000	0.61276	0.692000	0.31613	0.533000	0.62120	GTT		0.532	C14orf159-014	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381273.1	NM_024952		19	87	0	0	0	0.108266	0	19	87					G	91655506	T	G	91655506	3	3	201	1	0	0	0	0	1	0	0	0	1755	1725	60	5	1213	5	C14orf159	14	91655506	Missense_Mutation	SNP	T	TCGA-HC-7209-01A-11D-2114-08		91655506	15694034	17	9286											
AHNAK2	113146	broad.mit.edu	37	chr14	105408253	105408253	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cggcggaaggggcctgaatgCggaggtcagtggtcttgagg	7	7	20	7	3	2	2	1	2	1	0	2	4	2	4	1	8	1	0	1	8	2	1	rs112306443		TCGA-HC-7209-01A-11D-2114-08	TCGA-HC-7209-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12dd9452-9a7b-4193-85c7-573b088b1979	77aa04fb-bbf6-4d20-b6c2-e9d4647bf6f6	g.chr14:105408253C>T	ENST00000333244.5	-	7	13654	c.13535G>A	c.(13534-13536)cGc>cAc	p.R4512H	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	4512						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GGCCTGAATGCGGAGGTCAGT	0.622																																						ENST00000333244.5																			0				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33						c.(13534-13536)cGc>cAc		AHNAK nucleoprotein 2		C	HIS/ARG	5,3983		0,5,1989	118	126	123		13535	1.7	0	14	dbSNP_132	123	0,8336		0,0,4168	no	missense	AHNAK2	NM_138420.2	29	0,5,6157	TT,TC,CC		0.0,0.1254,0.0406	probably-damaging	4512/5796	105408253	5,12319	1994	4168	6162	SO:0001583	missense	113146					nucleus		g.chr14:105408253C>T	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"chromosome 14 open reading frame 78"	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.13535G>A	14.37:g.105408253C>T	ENSP00000353114:p.Arg4512His					AHNAK2_ENST00000557457.1_Intron	p.R4512H	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)		7	13654	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	4512					Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	ENST00000333244.5	37	c.13535G>A	CCDS45177.1	.	.	.	.	.	.	.	.	.	.	C	13.66	2.303778	0.40795	0.001254	0.0	ENSG00000185567	ENST00000333244	T	0.00730	5.77	3.6	1.67	0.24075	.	3.293480	0.02260	U	0.067482	T	0.01320	0.0043	N	0.12182	0.205	0.09310	N	1	D	0.71674	0.998	P	0.61201	0.885	T	0.46843	-0.9162	10	0.46703	T	0.11	-14.362	2.6663	0.05053	0.0:0.4447:0.2818:0.2736	.	4512	Q8IVF2	AHNK2_HUMAN	H	4512	ENSP00000353114:R4512H	ENSP00000353114:R4512H	R	-	2	0	AHNAK2	104479298	0.000000	0.05858	0.033000	0.17914	0.107000	0.19398	-0.364000	0.07583	0.466000	0.27193	0.306000	0.20318	CGC		0.622	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		47	106	0	0	0	0.139131	0	47	106					T	105408253	C	T	105408253	3	4	201	1	0	0	0	0	1	0	0	0	415	768	27	1	3856	1	AHNAK2	14	105408253	Missense_Mutation	SNP	C	TCGA-HC-7209-01A-11D-2114-08	13752747	105408253	1941287	18	9287											
CD276	80381	broad.mit.edu	37	chr15	73996665	73996665	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggtgtgcccctgactggcaaCgtgaccacgtcgcagatggc	7	7	14	13	3	0	3	0	2	0	1	1	3	0	3	3	3	2	2	3	3	1	0	rs369412356		TCGA-HC-7209-01A-11D-2114-08	TCGA-HC-7209-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12dd9452-9a7b-4193-85c7-573b088b1979	77aa04fb-bbf6-4d20-b6c2-e9d4647bf6f6	g.chr15:73996665C>A	ENST00000318443.5	+	6	1523	c.1221C>A	c.(1219-1221)aaC>aaA	p.N407K	CD276_ENST00000564751.1_Missense_Mutation_p.N189K|CD276_ENST00000561213.1_Missense_Mutation_p.N407K|CD276_ENST00000537340.2_Missense_Mutation_p.N261K|CD276_ENST00000318424.5_Missense_Mutation_p.N189K	NM_001024736.1	NP_001019907.1	Q5ZPR3	CD276_HUMAN	CD276 molecule	407	Ig-like C2-type 2.				cell proliferation (GO:0008283)|immune response (GO:0006955)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interferon-gamma biosynthetic process (GO:0045077)|negative regulation of interleukin-2 biosynthetic process (GO:0045085)|negative regulation of T cell proliferation (GO:0042130)|positive regulation of bone mineralization (GO:0030501)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|positive regulation of interleukin-2 secretion (GO:1900042)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of T cell proliferation (GO:0042102)|regulation of immune response (GO:0050776)|T cell activation (GO:0042110)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	receptor binding (GO:0005102)			endometrium(3)|lung(5)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	13						TGACTGGCAACGTGACCACGT	0.647											OREG0023265	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000318443.5																			0				endometrium(3)|lung(5)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	13						c.(1219-1221)aaC>aaA		CD276 molecule							90	74	79					15																	73996665		2198	4294	6492	SO:0001583	missense	80381				cell proliferation|immune response|positive regulation of interferon-gamma biosynthetic process|positive regulation of T cell proliferation|regulation of immune response|T cell activation	external side of plasma membrane|integral to membrane	receptor binding	g.chr15:73996665C>A	AF302102	CCDS10251.1, CCDS32288.1	15q23-q24	2013-01-11	2006-03-28		ENSG00000103855	ENSG00000103855		"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C2-set domain containing"	19137	protein-coding gene	gene with protein product		605715	"CD276 antigen"			11224528, 12055244	Standard	XM_005254699		Approved	B7-H3, B7H3, B7RP-2	uc002avv.1	Q5ZPR3	OTTHUMG00000137585	ENST00000318443.5:c.1221C>A	15.37:g.73996665C>A	ENSP00000320084:p.Asn407Lys		OREG0023265	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1149	CD276_ENST00000561213.1_Missense_Mutation_p.N407K|CD276_ENST00000318424.5_Missense_Mutation_p.N189K|CD276_ENST00000564751.1_Missense_Mutation_p.N189K|CD276_ENST00000537340.2_Missense_Mutation_p.N261K	p.N407K	NM_001024736.1	NP_001019907.1	Q5ZPR3	CD276_HUMAN			6	1523	+			407			Ig-like C2-type 2.		Q6P5Y4|Q6UXI2|Q8NBI8|Q8NC34|Q8NCB6|Q9BXR1	Missense_Mutation	SNP	ENST00000318443.5	37	c.1221C>A	CCDS32288.1	.	.	.	.	.	.	.	.	.	.	C	17.40	3.379065	0.61735	.	.	ENSG00000103855	ENST00000318424;ENST00000318443;ENST00000379823;ENST00000537340	T;T;T	0.75050	-0.9;-0.9;-0.9	4.32	3.38	0.38709	Immunoglobulin subtype (1);CD80-like, immunoglobulin C2-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.74107	0.3673	L	0.33093	0.98	0.51767	D	0.999932	D;D;D;D	0.89917	1.0;1.0;0.997;0.999	D;D;D;D	0.97110	1.0;0.997;0.995;0.998	T	0.67960	-0.5535	10	0.15952	T	0.53	-18.3993	7.4238	0.27088	0.0:0.7859:0.0:0.2141	.	353;189;407;407	B4DK26;Q5ZPR3-2;Q5ZPR3;Q5ZPR3-4	.;.;CD276_HUMAN;.	K	189;407;407;261	ENSP00000320058:N189K;ENSP00000320084:N407K;ENSP00000441087:N261K	ENSP00000320058:N189K	N	+	3	2	CD276	71783718	0.982000	0.34865	1.000000	0.80357	0.937000	0.57800	0.205000	0.17356	0.778000	0.33520	0.462000	0.41574	AAC		0.647	CD276-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268979.1	NM_025240		23	70	1	0	8.88839e-20	0.153744	1.07184e-19	23	70					A	73996665	C	A	73996665	3	1	201	1	0	0	0	0	1	0	0	0	2992	535	19	5	1239	5	CD276	15	73996665	Missense_Mutation	SNP	C	TCGA-HC-7209-01A-11D-2114-08		73996665	28534727	19	9288											
MAN2A2	4122	broad.mit.edu	37	chr15	91450694	91450694	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcccttggaaggtgccacccCgggccatcacagaggccaac	9	4	12	16	1	1	1	1	0	0	1	1	2	1	2	6	4	2	0	6	4	2	1			TCGA-HC-7209-01A-11D-2114-08	TCGA-HC-7209-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12dd9452-9a7b-4193-85c7-573b088b1979	77aa04fb-bbf6-4d20-b6c2-e9d4647bf6f6	g.chr15:91450694C>T	ENST00000559717.1	+	8	1624	c.1165C>T	c.(1165-1167)Cgg>Tgg	p.R389W	MAN2A2_ENST00000431652.2_5'UTR|MAN2A2_ENST00000360468.3_Missense_Mutation_p.R389W			P49641	MA2A2_HUMAN	mannosidase, alpha, class 2A, member 2	389					cellular protein metabolic process (GO:0044267)|mannose metabolic process (GO:0006013)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|hydrolase activity, hydrolyzing N-glycosyl compounds (GO:0016799)|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity (GO:0004572)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.229)			GGTGCCACCCCGGGCCATCAC	0.607																																						ENST00000360468.3																			0				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47						c.(1165-1167)Cgg>Tgg		mannosidase, alpha, class 2A, member 2							53	53	53					15																	91450694		2198	4298	6496	SO:0001583	missense	4122				mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding	g.chr15:91450694C>T	L28821	CCDS32332.1	15q25	2011-06-30			ENSG00000196547	ENSG00000196547			6825	protein-coding gene	gene with protein product		600988				8524845	Standard	NM_006122		Approved	MANA2X, HsT19662	uc002bqc.3	P49641		ENST00000559717.1:c.1165C>T	15.37:g.91450694C>T	ENSP00000452948:p.Arg389Trp					MAN2A2_ENST00000559717.1_Missense_Mutation_p.R389W|MAN2A2_ENST00000431652.2_5'UTR	p.R389W	NM_006122.2	NP_006113.2	P49641	MA2A2_HUMAN	Lung(145;0.229)		7	1183	+	Lung NSC(78;0.0771)|all_lung(78;0.137)		389					A6NH12|A8K1E8|Q13754	Missense_Mutation	SNP	ENST00000559717.1	37	c.1165C>T	CCDS32332.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.130339	0.77549	.	.	ENSG00000196547	ENST00000360468	T	0.23754	1.89	5.67	5.67	0.87782	Glycoside hydrolase/deacetylase, beta/alpha-barrel (1);Glycoside hydrolase, family 38, core (2);	0.050971	0.85682	D	0.000000	T	0.43831	0.1265	L	0.52759	1.655	0.80722	D	1	D;D;D	0.71674	0.998;0.997;0.998	D;D;D	0.70016	0.967;0.913;0.948	T	0.23440	-1.0188	10	0.66056	D	0.02	-41.7526	13.0738	0.59075	0.2757:0.7243:0.0:0.0	.	59;389;389	B4DIK4;P49641-1;P49641	.;.;MA2A2_HUMAN	W	389	ENSP00000353655:R389W	ENSP00000353655:R389W	R	+	1	2	MAN2A2	89251698	0.816000	0.29132	0.997000	0.53966	0.968000	0.65278	1.566000	0.36396	2.696000	0.92011	0.456000	0.33151	CGG		0.607	MAN2A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418246.5	NM_006122		11	50	0	0	0	0.105934	0	11	50					T	91450694	C	T	91450694	3	4	201	1	0	0	0	0	1	0	0	0	9215	643	23	2	1191	2	MAN2A2	15	91450694	Missense_Mutation	SNP	C	TCGA-HC-7209-01A-11D-2114-08	17454029	91450694	11080698	20	9289											
C16orf88	400506	broad.mit.edu	37	chr16	19725711	19725711	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctccctcctggtggatttttTttttcttcttcaccttccca	3	20	4	14	0	3	0	1	0	2	0	6	1	6	1	4	2	0	0	4	2	0	8			TCGA-HC-7209-01A-11D-2114-08	TCGA-HC-7209-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12dd9452-9a7b-4193-85c7-573b088b1979	77aa04fb-bbf6-4d20-b6c2-e9d4647bf6f6	g.chr16:19725711T>G	ENST00000219837.7	-	2	725	c.647A>C	c.(646-648)aAa>aCa	p.K216T	IQCK_ENST00000320394.6_5'Flank|AC002550.5_ENST00000565916.1_RNA|KNOP1_ENST00000568230.1_5'Flank	NM_001012991.2	NP_001013009.2	Q1ED39	KNOP1_HUMAN	lysine-rich nucleolar protein 1	216	Lys-rich.					nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)										GTGGATTTTTTTTTTCTTCTT	0.532																																						ENST00000219837.7																			0											c.(646-648)aAa>aCa		lysine-rich nucleolar protein 1							63	72	69					16																	19725711		2178	4297	6475	SO:0001583	missense	400506							g.chr16:19725711T>G	BC047010	CCDS42127.1	16p12.3	2013-03-12	2013-03-12	2013-03-12	ENSG00000103550	ENSG00000103550			34404	protein-coding gene	gene with protein product	"family with sequence similarity 191, member A", "testis-specific gene 118"		"chromosome 16 open reading frame 88"	C16orf88			Standard	NM_001012991		Approved	101F10.1, FAM191A, TSG118	uc002dgq.3	Q1ED39		ENST00000219837.7:c.647A>C	16.37:g.19725711T>G	ENSP00000219837:p.Lys216Thr					AC002550.5_ENST00000565916.1_RNA	p.K216T	NM_001012991.2	NP_001013009.2					2	725	-								O43328|Q5FWF3	Missense_Mutation	SNP	ENST00000219837.7	37	c.647A>C	CCDS42127.1	.	.	.	.	.	.	.	.	.	.	T	8.331	0.826397	0.16749	.	.	ENSG00000103550	ENST00000219837	T	0.27402	1.67	4.71	3.61	0.41365	.	1.537720	0.04212	N	0.331973	T	0.40522	0.1120	L	0.34521	1.04	0.54753	D	0.999987	D	0.67145	0.996	P	0.62813	0.907	T	0.30909	-0.9962	9	.	.	.	-19.0976	4.1952	0.10440	0.1774:0.0954:0.0:0.7272	.	216	Q1ED39	CP088_HUMAN	T	216	ENSP00000219837:K216T	.	K	-	2	0	C16orf88	19633212	0.999000	0.42202	0.810000	0.32431	0.180000	0.23129	0.832000	0.27490	0.930000	0.37217	0.459000	0.35465	AAA		0.532	KNOP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435993.2	NM_001012991		3	59	0	0	0	0.021553	0	3	59					G	19725711	T	G	19725711	3	3	201	1	0	0	0	0	1	0	0	0	1841	1841	64	5	745	5	C16orf88	16	19725711	Missense_Mutation	SNP	T	TCGA-HC-7209-01A-11D-2114-08		19725711	70629042	21	9290											
NPC1	4864	broad.mit.edu	37	chr18	21134925	21134925	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taagaggcagtaatgttttcGatggctatttgtaagtcaag	12	14	11	4	1	1	1	1	0	0	1	2	2	1	1	0	2	0	5	0	2	5	7	rs368945671		TCGA-HC-7209-01A-11D-2114-08	TCGA-HC-7209-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12dd9452-9a7b-4193-85c7-573b088b1979	77aa04fb-bbf6-4d20-b6c2-e9d4647bf6f6	g.chr18:21134925G>T	ENST00000269228.5	-	9	1904	c.1350C>A	c.(1348-1350)atC>atA	p.I450I	NPC1_ENST00000540608.1_5'UTR|NPC1_ENST00000412552.2_Silent_p.I200I	NM_000271.4	NP_000262.2	O15118	NPC1_HUMAN	Niemann-Pick disease, type C1	450					adult walking behavior (GO:0007628)|autophagy (GO:0006914)|bile acid metabolic process (GO:0008206)|cellular response to low-density lipoprotein particle stimulus (GO:0071404)|cellular response to steroid hormone stimulus (GO:0071383)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|endocytosis (GO:0006897)|establishment of protein localization to membrane (GO:0090150)|lysosomal transport (GO:0007041)|membrane raft organization (GO:0031579)|negative regulation of cell death (GO:0060548)|negative regulation of macroautophagy (GO:0016242)|protein glycosylation (GO:0006486)|response to cadmium ion (GO:0046686)|response to drug (GO:0042493)|signal transduction (GO:0007165)	endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|membrane raft (GO:0045121)|nuclear envelope (GO:0005635)|perinuclear region of cytoplasm (GO:0048471)	cholesterol binding (GO:0015485)|hedgehog receptor activity (GO:0008158)|receptor activity (GO:0004872)|sterol transporter activity (GO:0015248)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(10)|lung(13)|ovary(2)|stomach(1)	38	all_cancers(21;0.000106)|all_epithelial(16;6.57e-07)|Lung NSC(20;0.00166)|all_lung(20;0.00536)|Colorectal(14;0.0202)|Ovarian(20;0.127)					TAATGTTTTCGATGGCTATTT	0.398																																						ENST00000269228.5																			0				breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(10)|lung(13)|ovary(2)|stomach(1)	38						c.(1348-1350)atC>atA		Niemann-Pick disease, type C1							107	80	89					18																	21134925		2203	4300	6503	SO:0001819	synonymous_variant	4864				autophagy|bile acid metabolic process|cholesterol efflux|cholesterol homeostasis|lysosomal transport	endoplasmic reticulum|integral to plasma membrane|late endosome membrane|lysosomal membrane|nuclear envelope|perinuclear region of cytoplasm	hedgehog receptor activity|protein binding|sterol transporter activity	g.chr18:21134925G>T	AF002020	CCDS11878.1	18q11.2	2014-06-17			ENSG00000141458	ENSG00000141458			7897	protein-coding gene	gene with protein product		607623				8446622	Standard	NM_000271		Approved		uc002kum.4	O15118	OTTHUMG00000131873	ENST00000269228.5:c.1350C>A	18.37:g.21134925G>T						NPC1_ENST00000540608.1_5'UTR|NPC1_ENST00000412552.2_Silent_p.I200I	p.I450I	NM_000271.4	NP_000262.2	O15118	NPC1_HUMAN			9	1904	-	all_cancers(21;0.000106)|all_epithelial(16;6.57e-07)|Lung NSC(20;0.00166)|all_lung(20;0.00536)|Colorectal(14;0.0202)|Ovarian(20;0.127)		450					B4DET3|Q9P130	Silent	SNP	ENST00000269228.5	37	c.1350C>A	CCDS11878.1																																																																																				0.398	NPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254823.2	NM_000271		8	30	1	0	0.0581538	0.058154	0.0596076	8	30					T	21134925	G	T	21134925	2	4	201	1	0	0	0	0	0	0	0	1	10570	1048	37	5		5	NPC1	18	21134925	Silent	SNP	G	TCGA-HC-7209-01A-11D-2114-08		21134925	56942323	22	9291											
KIAA1328	57536	broad.mit.edu	37	chr18	34802090	34802090	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggaatcatggtactttccGactcagtcctctaaaatcaa	12	12	6	11	1	4	0	3	0	1	0	6	2	6	1	2	2	1	1	2	2	5	3			TCGA-HC-7209-01A-11D-2114-08	TCGA-HC-7209-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12dd9452-9a7b-4193-85c7-573b088b1979	77aa04fb-bbf6-4d20-b6c2-e9d4647bf6f6	g.chr18:34802090G>T	ENST00000280020.5	+	10	1656	c.1634G>T	c.(1633-1635)cGa>cTa	p.R545L	KIAA1328_ENST00000586135.1_3'UTR|KIAA1328_ENST00000591619.1_Missense_Mutation_p.R541L|KIAA1328_ENST00000543923.1_Intron	NM_020776.1	NP_065827.1	Q86T90	K1328_HUMAN	KIAA1328	545										central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|skin(2)|upper_aerodigestive_tract(1)	14				COAD - Colon adenocarcinoma(74;0.195)		GGTACTTTCCGACTCAGTCCT	0.478																																						ENST00000591619.1																			0				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|skin(2)|upper_aerodigestive_tract(1)	14						c.(1621-1623)cGa>cTa		KIAA1328							45	42	43					18																	34802090		1864	4105	5969	SO:0001583	missense	57536							g.chr18:34802090G>T	AB037749	CCDS45855.1	18q12.2	2011-12-12			ENSG00000150477	ENSG00000150477			29248	protein-coding gene	gene with protein product						10718198	Standard	XM_005258317		Approved		uc002kzz.3	Q86T90		ENST00000280020.5:c.1634G>T	18.37:g.34802090G>T	ENSP00000280020:p.Arg545Leu					KIAA1328_ENST00000280020.5_Missense_Mutation_p.R545L|KIAA1328_ENST00000586135.1_3'UTR|KIAA1328_ENST00000543923.1_Intron	p.R541L			Q86T90	K1328_HUMAN		COAD - Colon adenocarcinoma(74;0.195)	10	2408	+			545					Q05DL0|Q49AG6|Q9P2L8	Missense_Mutation	SNP	ENST00000280020.5	37	c.1622G>T	CCDS45855.1	.	.	.	.	.	.	.	.	.	.	G	5.945	0.358454	0.11239	.	.	ENSG00000150477	ENST00000280020;ENST00000383055	T	0.50277	0.75	5.93	-3.18	0.05186	.	0.790748	0.11311	N	0.577100	T	0.34483	0.0899	L	0.50333	1.59	0.09310	N	1	B;B	0.18013	0.002;0.025	B;B	0.17979	0.011;0.02	T	0.25882	-1.0119	10	0.31617	T	0.26	.	5.9963	0.19495	0.484:0.0:0.3084:0.2077	.	545;545	A8K8C3;Q86T90	.;K1328_HUMAN	L	545	ENSP00000280020:R545L	ENSP00000280020:R545L	R	+	2	0	KIAA1328	33056088	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	-0.898000	0.04105	-0.552000	0.06167	-0.914000	0.02751	CGA		0.478	KIAA1328-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440455.1	NM_020776		4	15	1	0	1.23904e-05	0.014758	1.37299e-05	4	15					T	34802090	G	T	34802090	3	4	201	1	0	0	0	0	1	0	0	0	8225	1058	37	5	1672	5	KIAA1328	18	34802090	Missense_Mutation	SNP	G	TCGA-HC-7209-01A-11D-2114-08	13667165	34802090	43275158	23	9292											
FBXO15	201456	broad.mit.edu	37	chr18	71790685	71790685	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaacatggagttggtagccGtgcagtccatactcggggct	8	10	13	10	2	1	0	1	0	0	0	3	1	2	1	2	4	4	4	2	4	3	3	rs573445550		TCGA-HC-7209-01A-11D-2114-08	TCGA-HC-7209-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12dd9452-9a7b-4193-85c7-573b088b1979	77aa04fb-bbf6-4d20-b6c2-e9d4647bf6f6	g.chr18:71790685G>A	ENST00000419743.2	-	8	1135	c.1056C>T	c.(1054-1056)caC>caT	p.H352H	FBXO15_ENST00000269500.5_Silent_p.H276H	NM_001142958.1	NP_001136430.1	Q8NCQ5	FBX15_HUMAN	F-box protein 15	352						SCF ubiquitin ligase complex (GO:0019005)				autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)	27		Esophageal squamous(42;0.103)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.143)		GTTGGTAGCCGTGCAGTCCAT	0.443													G|||	1	0.000199681	8e-04	0	5008	,	,		14837	0		0	False		,,,				2504	0					ENST00000269500.5																			0				autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)	27						c.(826-828)caC>caT		F-box protein 15							78	72	74					18																	71790685		2203	4300	6503	SO:0001819	synonymous_variant	201456							g.chr18:71790685G>A	AK094215	CCDS45884.1	18q22.3	2006-03-09	2004-06-15		ENSG00000141665	ENSG00000141665		"F-boxes /  "other""	13617	protein-coding gene	gene with protein product		609093	"F-box only protein 15"			12665572	Standard	NM_152676		Approved	MGC39671, FBX15	uc002llf.2	Q8NCQ5	OTTHUMG00000132842	ENST00000419743.2:c.1056C>T	18.37:g.71790685G>A						FBXO15_ENST00000419743.2_Silent_p.H352H	p.H276H	NM_152676.2	NP_689889.1	Q8NCQ5	FBX15_HUMAN		BRCA - Breast invasive adenocarcinoma(31;0.143)	8	1163	-		Esophageal squamous(42;0.103)|Prostate(75;0.173)	276					B3KST3	Silent	SNP	ENST00000419743.2	37	c.828C>T	CCDS45884.1																																																																																				0.443	FBXO15-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000444223.1	NM_152676		3	59	0	0	0	0.150653	0	3	59					A	71790685	G	A	71790685	2	1	201	1	0	0	0	0	0	0	0	1	5728	1136	40	1		1	FBXO15	18	71790685	Silent	SNP	G	TCGA-HC-7209-01A-11D-2114-08	36988595	71790685	6286563	24	9293											
CACNA1A	773	broad.mit.edu	37	chr19	13319691	13319692	+	In_Frame_Ins	INS	-	-	GGT																															gtccttgtcggggggcggggINSgatggtggtggtggtggtgg																								rs16052		TCGA-HC-7209-01A-11D-2114-08	TCGA-HC-7209-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12dd9452-9a7b-4193-85c7-573b088b1979	77aa04fb-bbf6-4d20-b6c2-e9d4647bf6f6	g.chr19:13319691_13319692insGGT	ENST00000360228.5	-	46	6657_6658	c.6658_6659insACC	c.(6658-6660)ccc>cACCcc	p.2219_2220insH	CACNA1A_ENST00000573710.2_In_Frame_Ins_p.2220_2221insH	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	2220	Poly-His.				adult walking behavior (GO:0007628)|behavioral response to pain (GO:0048266)|calcium ion import (GO:0070509)|calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cell death (GO:0008219)|cell growth (GO:0016049)|cellular chloride ion homeostasis (GO:0030644)|cerebellar molecular layer development (GO:0021679)|cerebellar Purkinje cell differentiation (GO:0021702)|cerebellum maturation (GO:0021590)|dendrite morphogenesis (GO:0048813)|energy reserve metabolic process (GO:0006112)|gamma-aminobutyric acid secretion (GO:0014051)|gamma-aminobutyric acid signaling pathway (GO:0007214)|glucose metabolic process (GO:0006006)|hormone metabolic process (GO:0042445)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|musculoskeletal movement, spinal reflex action (GO:0050883)|negative regulation of hormone biosynthetic process (GO:0032353)|negative regulation of neuron apoptotic process (GO:0043524)|neuromuscular process controlling balance (GO:0050885)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter metabolic process (GO:0042133)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|receptor clustering (GO:0043113)|regulation of acetylcholine secretion, neurotransmission (GO:0014056)|regulation of axonogenesis (GO:0050770)|regulation of calcium ion-dependent exocytosis (GO:0017158)|regulation of insulin secretion (GO:0050796)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|spinal cord motor neuron differentiation (GO:0021522)|sulfur amino acid metabolic process (GO:0000096)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transmission of nerve impulse (GO:0019226)|vestibular nucleus development (GO:0021750)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|syntaxin binding (GO:0019905)|voltage-gated calcium channel activity (GO:0005245)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Loperamide(DB00836)|Pregabalin(DB00230)|Spironolactone(DB00421)|Verapamil(DB00661)	GGGGGGCGGGGGAtggtggtgg	0.733																																						ENST00000360228.5																			0				breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42						c.(6658-6660)ccc>ACCccc		calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)																																			SO:0001652	inframe_insertion	773				cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding	g.chr19:13319691_13319692insGGT	U79666	CCDS45998.1, CCDS45999.1	19p13	2014-09-17			ENSG00000141837	ENSG00000141837		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1388	protein-coding gene	gene with protein product		601011		CACNL1A4, SCA6, MHP1, MHP		8825650, 16382099, 23827678	Standard	NM_000068		Approved	Cav2.1, EA2, APCA, HPCA, FHM	uc010xne.2	O00555	OTTHUMG00000044590	ENST00000360228.5:c.6658_6659insACC	19.37:g.13319691_13319692insGGT	ENSP00000353362:p.His2219_His2219dup					CACNA1A_ENST00000573710.2_In_Frame_Ins_p.2220_2221insT	p.2219_2220insT	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		46	6657_6658	-			2220			Poly-His.		J3KP41|P78510|P78511|Q16290|Q92690|Q99790|Q99791|Q99792|Q99793|Q9NS88|Q9UDC4	In_Frame_Ins	INS	ENST00000360228.5	37	c.6658_6659insACC	CCDS45998.1																																																																																				0.733	CACNA1A-001	KNOWN	non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000104062.2	NM_000068		2	4						2	4	---	---	---	---	GGT	13319692	-	GGT	13319691	7	5	201	1	0	1	1	0	0	0	0	0	2538	1232	43	0	869	0	CACNA1A	19	13319691	In_Frame_Ins	INS	-	TCGA-HC-7209-01A-11D-2114-08		13319691	45809292	25	9294											
YJEFN3	374887	broad.mit.edu	37	chr19	19645880	19645880	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctctcccggaagcagaggaCggtgctggtcgtgtgtggcc	5	9	16	11	3	1	1	0	0	1	1	4	3	2	3	2	5	2	2	2	5	1	0	rs545322147	byFrequency	TCGA-HC-7209-01A-11D-2114-08	TCGA-HC-7209-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12dd9452-9a7b-4193-85c7-573b088b1979	77aa04fb-bbf6-4d20-b6c2-e9d4647bf6f6	g.chr19:19645880C>T	ENST00000514277.4	+	4	394	c.356C>T	c.(355-357)aCg>aTg	p.T119M	YJEFN3_ENST00000608404.1_Missense_Mutation_p.T118M|YJEFN3_ENST00000436027.5_Missense_Mutation_p.T69M|CTC-260F20.3_ENST00000555938.1_Missense_Mutation_p.T118M	NM_198537.3	NP_940939.2	A6XGL0	YJEN3_HUMAN	YjeF N-terminal domain containing 3	119	YjeF N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00719}.									NS(1)|breast(1)|lung(3)	5						AAGCAGAGGACGGTGCTGGTC	0.642													C|||	2	0.000399361	0	0	5008	,	,		16304	0		0.001	False		,,,				2504	0.001					ENST00000555938.1																			0											c.(352-354)aCg>aTg									90	108	102					19																	19645880		2115	4230	6345	SO:0001583	missense	0							g.chr19:19645880C>T		CCDS42530.1, CCDS54236.1	19p13.11	2014-09-11			ENSG00000250067	ENSG00000250067			24785	protein-coding gene	gene with protein product						17533573	Standard	NM_198537		Approved	hYjeF_N3-19p13.11, FLJ44968	uc002nmt.2	A6XGL0	OTTHUMG00000162251	ENST00000514277.4:c.356C>T	19.37:g.19645880C>T	ENSP00000426964:p.Thr119Met					YJEFN3_ENST00000436027.4_Missense_Mutation_p.T69M|YJEFN3_ENST00000514277.3_Missense_Mutation_p.T119M	p.T118M							5	365	+								A6XGK9|Q4G1C0	Missense_Mutation	SNP	ENST00000514277.4	37	c.353C>T	CCDS42530.1	.	.	.	.	.	.	.	.	.	.	C	19.92	3.915845	0.73098	.	.	ENSG00000250067;ENSG00000250067;ENSG00000250067;ENSG00000250067;ENSG00000250067;ENSG00000258674	ENST00000553705;ENST00000397179;ENST00000436027;ENST00000514277;ENST00000510139;ENST00000555938	T;T;T	0.45276	0.9;0.9;0.9	4.53	3.49	0.39957	YjeF-related protein, N-terminal (5);	0.052888	0.85682	N	0.000000	T	0.52158	0.1717	M	0.72894	2.215	0.49299	D	0.999774	D;B;D	0.58620	0.983;0.308;0.98	P;B;P	0.53809	0.735;0.037;0.488	T	0.54866	-0.8229	10	0.52906	T	0.07	-24.1496	10.701	0.45926	0.0:0.9037:0.0:0.0963	.	118;69;119	E7ENQ6;A6XGL0-2;A6XGL0	.;.;YJEN3_HUMAN	M	118;119;69;119;69;118	ENSP00000398520:T69M;ENSP00000426964:T119M;ENSP00000452549:T118M	ENSP00000389732:T118M	T	+	2	0	YJEFN3;CTC-260F20.3	19506880	1.000000	0.71417	0.914000	0.36105	0.845000	0.48019	5.390000	0.66261	1.063000	0.40649	0.650000	0.86243	ACG		0.642	YJEFN3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000368157.5	NM_198537		73	152	0	0	0	0.139131	0	73	152					T	19645880	C	T	19645880	3	4	201	1	0	0	0	0	1	0	0	0	17481	536	19	1	370	1	YJEFN3	19	19645880	Missense_Mutation	SNP	C	TCGA-HC-7209-01A-11D-2114-08	6326189	19645880	39483103	26	9295											
VPS16	64601	broad.mit.edu	37	chr20	2842496	2842496	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ctggtgcctgagctcgatggGgtccgcatcttctcccgcag	4	10	13	14	3	2	1	0	1	2	0	5	2	3	1	3	3	2	3	3	3	0	1			TCGA-HC-7209-01A-11D-2114-08	TCGA-HC-7209-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12dd9452-9a7b-4193-85c7-573b088b1979	77aa04fb-bbf6-4d20-b6c2-e9d4647bf6f6	g.chr20:2842496G>A	ENST00000380445.3	+	10	1017	c.945G>A	c.(943-945)ggG>ggA	p.G315G	PTPRA_ENST00000380393.3_5'Flank|VPS16_ENST00000380469.3_Intron|VPS16_ENST00000380443.3_5'Flank|VPS16_ENST00000481812.2_3'UTR	NM_022575.2	NP_072097.2	Q9H269	VPS16_HUMAN	vacuolar protein sorting 16 homolog (S. cerevisiae)	315					intracellular protein transport (GO:0006886)|viral entry into host cell (GO:0046718)	actin filament (GO:0005884)|axon (GO:0030424)|early endosome (GO:0005769)|HOPS complex (GO:0030897)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|recycling endosome (GO:0055037)				NS(3)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	37						AGCTCGATGGGGTCCGCATCT	0.592																																						ENST00000380445.3																			0				NS(3)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	37						c.(943-945)ggG>ggA		vacuolar protein sorting 16 homolog (S. cerevisiae)							82	72	76					20																	2842496		2203	4300	6503	SO:0001819	synonymous_variant	64601				intracellular protein transport	early endosome|HOPS complex|late endosome membrane|lysosomal membrane|recycling endosome		g.chr20:2842496G>A	AF308801	CCDS13036.1, CCDS13037.1	20p13	2009-07-07	2009-07-07	2009-07-07	ENSG00000215305	ENSG00000215305			14584	protein-coding gene	gene with protein product		608550					Standard	NM_022575		Approved		uc002whe.3	Q9H269	OTTHUMG00000031714	ENST00000380445.3:c.945G>A	20.37:g.2842496G>A						VPS16_ENST00000380469.3_Intron|VPS16_ENST00000481812.2_3'UTR	p.G315G	NM_022575.2	NP_072097.2	Q9H269	VPS16_HUMAN			10	1017	+			315					Q5JUB1|Q8WU31|Q96EE7|Q96N92|Q9H1Q4|Q9H1Q5	Silent	SNP	ENST00000380445.3	37	c.945G>A	CCDS13036.1																																																																																				0.592	VPS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077658.2	NM_022575		7	24	0	0	0	0.058154	0	7	24					A	2842496	G	A	2842496	2	1	201	1	0	0	0	0	0	0	0	1	17190	1219	43	3		3	VPS16	20	2842496	Silent	SNP	G	TCGA-HC-7209-01A-11D-2114-08		2842496	60183024	27	9296											
IL3RA	3563	broad.mit.edu	37	chrX	1501315	1501315	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcgggcaaagccggcctggAggagtgtctggtgactgaag	8	6	19	8	2	1	2	0	2	1	0	1	4	1	4	2	6	1	1	2	6	2	0			TCGA-HC-7209-01A-11D-2114-08	TCGA-HC-7209-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12dd9452-9a7b-4193-85c7-573b088b1979	77aa04fb-bbf6-4d20-b6c2-e9d4647bf6f6	g.chrX:1501315A>G	ENST00000331035.4	+	12	1443	c.1094A>G	c.(1093-1095)gAg>gGg	p.E365G	IL3RA_ENST00000381469.2_Missense_Mutation_p.E287G	NM_001267713.1|NM_002183.3	NP_001254642.1|NP_002174.1	P26951	IL3RA_HUMAN	interleukin 3 receptor, alpha (low affinity)	365					cellular response to interleukin-3 (GO:0036016)|interleukin-3-mediated signaling pathway (GO:0038156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	interleukin-3 receptor activity (GO:0004912)			lung(1)|skin(2)	3		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Sargramostim(DB00020)	GCCGGCCTGGAGGAGTGTCTG	0.637																																						ENST00000331035.4																			0				lung(1)|skin(2)	3						c.(1093-1095)gAg>gGg		interleukin 3 receptor, alpha (low affinity)	Sargramostim(DB00020)						186	197	193					X																	1501315		2203	4296	6499	SO:0001583	missense	3563					integral to membrane|plasma membrane	interleukin-3 receptor activity	g.chrX:1501315A>G	M74782	CCDS14113.1, CCDS59158.1	Xp22.3 and Yp13.3	2008-07-21			ENSG00000185291	ENSG00000185291		"Pseudoautosomal regions / PAR1", "Interleukins and interleukin receptors", "CD molecules"	6012	protein-coding gene	gene with protein product		308385, 430000				1833064	Standard	NM_002183		Approved	CD123	uc004cps.3	P26951	OTTHUMG00000021059	ENST00000331035.4:c.1094A>G	X.37:g.1501315A>G	ENSP00000327890:p.Glu365Gly					IL3RA_ENST00000381469.2_Missense_Mutation_p.E287G	p.E365G	NM_001267713.1|NM_002183.3	NP_001254642.1|NP_002174.1	P26951	IL3RA_HUMAN			12	1443	+		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)	365					A8K3F3|B9VI81|Q5HYQ7|Q5HYQ8|Q9UEH7	Missense_Mutation	SNP	ENST00000331035.4	37	c.1094A>G	CCDS14113.1	.	.	.	.	.	.	.	.	.	.	.	11.64	1.699891	0.30142	.	.	ENSG00000185291	ENST00000331035;ENST00000381469	T;T	0.50813	0.88;0.73	1.7	1.7	0.24286	.	0.450190	0.17438	U	0.174203	T	0.53498	0.1800	L	0.43152	1.355	0.09310	N	1	D;D	0.76494	0.999;0.999	D;D	0.87578	0.998;0.994	T	0.30707	-0.9969	10	0.52906	T	0.07	.	5.2323	0.15428	1.0:0.0:0.0:0.0	.	286;365	P26951-2;P26951	.;IL3RA_HUMAN	G	365;287	ENSP00000327890:E365G;ENSP00000370878:E287G	ENSP00000327890:E365G	E	+	2	0	IL3RA	1461315	0.017000	0.18338	0.043000	0.18650	0.500000	0.33767	1.491000	0.35583	0.748000	0.32831	0.084000	0.15446	GAG		0.637	IL3RA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055600.3			32	161	0	0	0	0.074837	0	32	161					G	1501315	A	G	1501315	3	3	201	1	0	0	0	0	1	0	0	0	7695	304	11	4	1136	4	IL3RA	23	1501315	Missense_Mutation	SNP	A	TCGA-HC-7209-01A-11D-2114-08		1501315	153769245	28	9297											
PARK7	11315	broad.mit.edu	37	chr1	8025453	8025453	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	gccgtgatgtggtcatttgtCctgatgccagccttgaagat	7	13	12	9	1	1	4	1	3	0	1	2	4	2	4	4	1	2	0	4	1	1	2			TCGA-HC-7210-01A-11D-2114-08	TCGA-HC-7210-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed251d-bf15-4ec0-af02-0dc5e856907e	d1e9fad6-a37e-4dd5-8011-6cff3fa8fd57	g.chr1:8025453C>G	ENST00000493678.1	+	3	227	c.160C>G	c.(160-162)Cct>Gct	p.P54A	PARK7_ENST00000377493.5_Missense_Mutation_p.P54A|PARK7_ENST00000497113.1_3'UTR|PARK7_ENST00000377488.1_Missense_Mutation_p.P54A|PARK7_ENST00000377491.1_Missense_Mutation_p.P54A|PARK7_ENST00000338639.5_Missense_Mutation_p.P54A			Q99497	PARK7_HUMAN	parkinson protein 7	54					adult locomotory behavior (GO:0008344)|autophagy (GO:0006914)|cellular response to glyoxal (GO:0036471)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to oxidative stress (GO:0034599)|dopamine uptake involved in synaptic transmission (GO:0051583)|glycolate biosynthetic process (GO:0046295)|glyoxal catabolic process (GO:1903190)|hydrogen peroxide metabolic process (GO:0042743)|inflammatory response (GO:0006954)|lactate biosynthetic process (GO:0019249)|membrane depolarization (GO:0051899)|membrane hyperpolarization (GO:0060081)|methylglyoxal catabolic process to D-lactate (GO:0019243)|mitochondrion organization (GO:0007005)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell death (GO:0060548)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:2001268)|negative regulation of death-inducing signaling complex assembly (GO:1903073)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of gene expression (GO:0010629)|negative regulation of hydrogen peroxide-induced cell death (GO:1903206)|negative regulation of hydrogen peroxide-induced neuron death (GO:1903208)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of neuron death (GO:1901215)|negative regulation of oxidative stress-induced cell death (GO:1903202)|negative regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903377)|negative regulation of protein acetylation (GO:1901984)|negative regulation of protein binding (GO:0032091)|negative regulation of protein export from nucleus (GO:0046826)|negative regulation of protein K48-linked deubiquitination (GO:1903094)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein sumoylation (GO:0033234)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of TRAIL-activated apoptotic signaling pathway (GO:1903122)|negative regulation of ubiquitin-protein transferase activity (GO:0051444)|negative regulation of ubiquitin-specific protease activity (GO:2000157)|positive regulation of androgen receptor activity (GO:2000825)|positive regulation of dopamine biosynthetic process (GO:1903181)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of L-dopa biosynthetic process (GO:1903197)|positive regulation of L-dopa decarboxylase activity (GO:1903200)|positive regulation of mitochondrial electron transport, NADH to ubiquinone (GO:1902958)|positive regulation of oxidative phosphorylation uncoupler activity (GO:2000277)|positive regulation of protein homodimerization activity (GO:0090073)|positive regulation of protein localization to nucleus (GO:1900182)|positive regulation of pyrroline-5-carboxylate reductase activity (GO:1903168)|positive regulation of superoxide dismutase activity (GO:1901671)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tyrosine 3-monooxygenase activity (GO:1903178)|protein stabilization (GO:0050821)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of fibril organization (GO:1902903)|regulation of inflammatory response (GO:0050727)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of neuron apoptotic process (GO:0043523)|single fertilization (GO:0007338)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)	androgen receptor binding (GO:0050681)|cupric ion binding (GO:1903135)|cuprous ion binding (GO:1903136)|cytokine binding (GO:0019955)|enzyme binding (GO:0019899)|glyoxalase (glycolic acid-forming) activity (GO:1990422)|glyoxalase III activity (GO:0019172)|identical protein binding (GO:0042802)|L-dopa decarboxylase activator activity (GO:0036478)|mRNA binding (GO:0003729)|oxidoreductase activity, acting on peroxide as acceptor (GO:0016684)|peptidase activity (GO:0008233)|peroxidase activity (GO:0004601)|peroxiredoxin activity (GO:0051920)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|repressing transcription factor binding (GO:0070491)|RNA binding (GO:0003723)|scaffold protein binding (GO:0097110)|small protein activating enzyme binding (GO:0044388)|small protein conjugating enzyme binding (GO:0044390)|superoxide dismutase copper chaperone activity (GO:0016532)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|tyrosine 3-monooxygenase activator activity (GO:0036470)|ubiquitin-specific protease binding (GO:1990381)			large_intestine(1)	1	Ovarian(185;0.06)|all_lung(157;0.151)	all_epithelial(116;1.76e-16)|all_lung(118;3.66e-05)|Lung NSC(185;0.000163)|Renal(390;0.000469)|Colorectal(325;0.0033)|Breast(348;0.0044)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;1.28e-70)|GBM - Glioblastoma multiforme(8;3.05e-36)|Colorectal(212;6.83e-08)|COAD - Colon adenocarcinoma(227;7.51e-06)|Kidney(185;5.22e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000414)|KIRC - Kidney renal clear cell carcinoma(229;0.000967)|STAD - Stomach adenocarcinoma(132;0.00102)|READ - Rectum adenocarcinoma(331;0.0649)		GGTCATTTGTCCTGATGCCAG	0.408																																						ENST00000493678.1																			0				large_intestine(1)	1						c.(160-162)Cct>Gct		parkinson protein 7							145	144	145					1																	8025453		2203	4300	6503	SO:0001583	missense	0				autophagy|cell death|cellular response to hydrogen peroxide|inflammatory response|mitochondrion organization|negative regulation of cell death|negative regulation of protein binding|neuroprotection|protein stabilization|regulation of androgen receptor signaling pathway|regulation of inflammatory response|single fertilization	mitochondrion|nucleus	mRNA binding|peptidase activity|peroxidase activity|protein homodimerization activity	g.chr1:8025453C>G	D61380	CCDS93.1	1p36.23	2014-04-11	2011-07-21		ENSG00000116288	ENSG00000116288		"Parkinson disease"	16369	protein-coding gene	gene with protein product			"Parkinson disease (autosomal recessive, early onset) 7"			11462174, 9070310	Standard	NM_007262		Approved	DJ-1, DJ1	uc001aox.4	Q99497	OTTHUMG00000001210	ENST00000493678.1:c.160C>G	1.37:g.8025453C>G	ENSP00000418770:p.Pro54Ala					PARK7_ENST00000497113.1_3'UTR|PARK7_ENST00000377488.1_Missense_Mutation_p.P54A|PARK7_ENST00000338639.5_Missense_Mutation_p.P54A|PARK7_ENST00000377493.5_Missense_Mutation_p.P54A|PARK7_ENST00000377491.1_Missense_Mutation_p.P54A	p.P54A			Q99497	PARK7_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;1.28e-70)|GBM - Glioblastoma multiforme(8;3.05e-36)|Colorectal(212;6.83e-08)|COAD - Colon adenocarcinoma(227;7.51e-06)|Kidney(185;5.22e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000414)|KIRC - Kidney renal clear cell carcinoma(229;0.000967)|STAD - Stomach adenocarcinoma(132;0.00102)|READ - Rectum adenocarcinoma(331;0.0649)	3	227	+	Ovarian(185;0.06)|all_lung(157;0.151)	all_epithelial(116;1.76e-16)|all_lung(118;3.66e-05)|Lung NSC(185;0.000163)|Renal(390;0.000469)|Colorectal(325;0.0033)|Breast(348;0.0044)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11)	54					B2R4Z1|O14805|Q6DR95|Q7LFU2	Missense_Mutation	SNP	ENST00000493678.1	37	c.160C>G	CCDS93.1	.	.	.	.	.	.	.	.	.	.	C	16.29	3.081794	0.55861	.	.	ENSG00000116288	ENST00000338639;ENST00000493678;ENST00000377491;ENST00000377488	T;T;T;T	0.75704	-0.96;-0.96;-0.96;-0.96	5.62	5.62	0.85841	ThiJ/PfpI (1);	0.000000	0.85682	D	0.000000	T	0.54287	0.1849	N	0.11023	0.085	0.80722	D	1	B	0.25206	0.12	B	0.28385	0.089	T	0.53344	-0.8452	10	0.02654	T	1	.	15.5109	0.75782	0.0:1.0:0.0:0.0	.	54	Q99497	PARK7_HUMAN	A	54	ENSP00000340278:P54A;ENSP00000418770:P54A;ENSP00000366711:P54A;ENSP00000366708:P54A	ENSP00000340278:P54A	P	+	1	0	PARK7	7948040	1.000000	0.71417	1.000000	0.80357	0.914000	0.54420	4.781000	0.62389	2.801000	0.96364	0.650000	0.86243	CCT		0.408	PARK7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000003577.1	NM_007262		15	48	0	0	0	1	0	15	48					G	8025453	C	G	8025453	3	3	202	1	0	0	0	0	1	0	0	0	11450	855	30	5	166	5	PARK7	1	8025453	Missense_Mutation	SNP	C	TCGA-HC-7210-01A-11D-2114-08		8025453	241225168	1	9298											
ZC3H12A	80149	broad.mit.edu	37	chr1	37941263	37941263	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agatgaaggtggacttcttcCggaagctgggctattcatcc	9	11	12	9	1	2	2	1	1	1	1	4	4	4	4	2	4	1	2	2	4	3	4	rs369620288		TCGA-HC-7210-01A-11D-2114-08	TCGA-HC-7210-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed251d-bf15-4ec0-af02-0dc5e856907e	d1e9fad6-a37e-4dd5-8011-6cff3fa8fd57	g.chr1:37941263C>T	ENST00000373087.6	+	2	282	c.166C>T	c.(166-168)Cgg>Tgg	p.R56W	RP11-422J8.1_ENST00000424989.1_RNA	NM_025079.2	NP_079355.2			zinc finger CCCH-type containing 12A											NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				GGACTTCTTCCGGAAGCTGGG	0.632																																						ENST00000373087.6																			0				NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(166-168)Cgg>Tgg		zinc finger CCCH-type containing 12A		C	TRP/ARG	0,4406		0,0,2203	58	57	57		166	4.5	1	1		57	1,8599	1.2+/-3.3	0,1,4299	no	missense	ZC3H12A	NM_025079.2	101	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	56/600	37941263	1,13005	2203	4300	6503	SO:0001583	missense	80149				angiogenesis|apoptosis|cell differentiation	cytoplasm|nucleus|plasma membrane	endonuclease activity|metal ion binding	g.chr1:37941263C>T		CCDS417.1	1p34.3	2012-07-05			ENSG00000163874	ENSG00000163874		"Zinc fingers, CCCH-type domain containing"	26259	protein-coding gene	gene with protein product	"MCP induced protein 1"	610562				18178554, 22055188	Standard	NM_025079		Approved	FLJ23231, MCPIP1	uc001cbb.4	Q5D1E8	OTTHUMG00000004221	ENST00000373087.6:c.166C>T	1.37:g.37941263C>T	ENSP00000362179:p.Arg56Trp						p.R56W	NM_025079.2	NP_079355.2	Q5D1E8	ZC12A_HUMAN			2	282	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)	56						Missense_Mutation	SNP	ENST00000373087.6	37	c.166C>T	CCDS417.1	.	.	.	.	.	.	.	.	.	.	C	26.3	4.723110	0.89298	0.0	1.16E-4	ENSG00000163874	ENST00000373087;ENST00000373082	T	0.25579	1.79	4.52	4.52	0.55395	.	0.059770	0.64402	D	0.000003	T	0.50377	0.1612	M	0.71581	2.175	0.80722	D	1	D	0.89917	1.0	D	0.71414	0.973	T	0.56183	-0.8021	10	0.66056	D	0.02	-25.7503	16.8484	0.85987	0.0:1.0:0.0:0.0	.	56	Q5D1E8	ZC12A_HUMAN	W	56	ENSP00000362179:R56W	ENSP00000362174:R56W	R	+	1	2	ZC3H12A	37713850	1.000000	0.71417	1.000000	0.80357	0.749000	0.42624	1.433000	0.34947	2.056000	0.61249	0.563000	0.77884	CGG		0.632	ZC3H12A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012154.2	NM_025079		12	49	0	0	0	1	0	12	49					T	37941263	C	T	37941263	3	4	202	1	0	0	0	0	1	0	0	0	17558	643	23	2	168	2	ZC3H12A	1	37941263	Missense_Mutation	SNP	C	TCGA-HC-7210-01A-11D-2114-08	29915810	37941263	211309358	2	9299											
ZCCHC11	23318	broad.mit.edu	37	chr1	52941095	52941095	+	Silent	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	gtagacttatttccacccttCgtctgaggacaggcaaaata	12	11	8	10	1	1	2	0	1	1	1	3	3	2	3	2	2	0	2	2	2	5	5			TCGA-HC-7210-01A-11D-2114-08	TCGA-HC-7210-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed251d-bf15-4ec0-af02-0dc5e856907e	d1e9fad6-a37e-4dd5-8011-6cff3fa8fd57	g.chr1:52941095C>G	ENST00000371544.3	-	13	2398	c.2136G>C	c.(2134-2136)acG>acC	p.T712T	ZCCHC11_ENST00000371541.1_5'UTR|ZCCHC11_ENST00000257177.4_Silent_p.T712T	NM_001009881.2|NM_015269.2	NP_001009881.1|NP_056084.1	Q5TAX3	TUT4_HUMAN	zinc finger, CCHC domain containing 11	712					cytokine production (GO:0001816)|miRNA catabolic process (GO:0010587)|miRNA metabolic process (GO:0010586)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|pre-miRNA processing (GO:0031054)|regulation of lipopolysaccharide-mediated signaling pathway (GO:0031664)|RNA 3'-end processing (GO:0031123)|stem cell maintenance (GO:0019827)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|RNA uridylyltransferase activity (GO:0050265)|zinc ion binding (GO:0008270)			NS(2)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(17)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	58						TTCCACCCTTCGTCTGAGGAC	0.423																																						ENST00000371544.3																			0				NS(2)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(17)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	58						c.(2134-2136)acG>acC		zinc finger, CCHC domain containing 11							92	94	93					1																	52941095		2203	4300	6503	SO:0001819	synonymous_variant	23318				miRNA catabolic process|pre-miRNA processing|RNA 3'-end processing|stem cell maintenance	cytoplasm|nucleolus	nucleic acid binding|protein binding|RNA uridylyltransferase activity|zinc ion binding	g.chr1:52941095C>G	D83776	CCDS30715.1, CCDS30716.1	1p32.3	2014-03-05			ENSG00000134744	ENSG00000134744		"Zinc fingers, CCHC domain containing"	28981	protein-coding gene	gene with protein product	"TUTase4"	613692				8724849, 12239557	Standard	NM_015269		Approved	KIAA0191, PAPD3, TUT4	uc001cty.2	Q5TAX3	OTTHUMG00000008200	ENST00000371544.3:c.2136G>C	1.37:g.52941095C>G						ZCCHC11_ENST00000371541.1_5'UTR|ZCCHC11_ENST00000257177.4_Silent_p.T712T	p.T712T	NM_001009881.2|NM_015269.2	NP_001009881.1|NP_056084.1	Q5TAX3	TUT4_HUMAN			13	2398	-			712					A2RRP0|B7Z8J5|D3DQ35|Q12764|Q5TAX2|Q5TAX4|Q86XZ3	Silent	SNP	ENST00000371544.3	37	c.2136G>C	CCDS30716.1																																																																																				0.423	ZCCHC11-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000022462.1	XM_038288		27	103	0	0	0	1	0	27	103					G	52941095	C	G	52941095	2	3	202	1	0	0	0	0	0	0	0	1	17577	871	31	5		5	ZCCHC11	1	52941095	Silent	SNP	C	TCGA-HC-7210-01A-11D-2114-08	14999832	52941095	196309526	3	9300											
VCAM1	7412	broad.mit.edu	37	chr1	101198104	101198104	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tggagcaggcagctccctaaCggggagctacagcctctttc	8	8	12	13	1	1	0	0	0	1	0	3	2	2	2	2	4	6	4	2	4	2	3	rs201744628		TCGA-HC-7210-01A-11D-2114-08	TCGA-HC-7210-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed251d-bf15-4ec0-af02-0dc5e856907e	d1e9fad6-a37e-4dd5-8011-6cff3fa8fd57	g.chr1:101198104C>T	ENST00000294728.2	+	7	1757	c.1656C>T	c.(1654-1656)aaC>aaT	p.N552N	VCAM1_ENST00000370115.1_Silent_p.N353N|VCAM1_ENST00000347652.2_Silent_p.N460N|VCAM1_ENST00000370119.4_Silent_p.N490N	NM_001078.3	NP_001069.1	P19320	VCAM1_HUMAN	vascular cell adhesion molecule 1	552	Ig-like C2-type 6.				acute inflammatory response (GO:0002526)|aging (GO:0007568)|amine metabolic process (GO:0009308)|B cell differentiation (GO:0030183)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell-matrix adhesion (GO:0007160)|cellular response to glucose stimulus (GO:0071333)|cellular response to tumor necrosis factor (GO:0071356)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|chorio-allantoic fusion (GO:0060710)|chronic inflammatory response (GO:0002544)|cytokine-mediated signaling pathway (GO:0019221)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|heterophilic cell-cell adhesion (GO:0007157)|interferon-gamma-mediated signaling pathway (GO:0060333)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte tethering or rolling (GO:0050901)|membrane to membrane docking (GO:0022614)|oxidation-reduction process (GO:0055114)|positive regulation of T cell proliferation (GO:0042102)|regulation of immune response (GO:0050776)|response to ethanol (GO:0045471)|response to hypoxia (GO:0001666)|response to ionizing radiation (GO:0010212)|response to lipopolysaccharide (GO:0032496)|response to nicotine (GO:0035094)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|viral process (GO:0016032)	alpha9-beta1 integrin-vascular cell adhesion molecule-1 complex (GO:0071065)|apical part of cell (GO:0045177)|cell surface (GO:0009986)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|microvillus (GO:0005902)|plasma membrane (GO:0005886)|podosome (GO:0002102)|sarcolemma (GO:0042383)	cell adhesion molecule binding (GO:0050839)|integrin binding (GO:0005178)|primary amine oxidase activity (GO:0008131)			central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(27)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_epithelial(167;3.83e-06)|all_lung(203;0.000485)|Lung NSC(277;0.0011)		Epithelial(280;0.0227)|all cancers(265;0.0276)|COAD - Colon adenocarcinoma(174;0.149)|Colorectal(144;0.169)|Lung(183;0.196)	Carvedilol(DB01136)	AGCTCCCTAACGGGGAGCTAC	0.483													C|||	1	0.000199681	0	0.0014	5008	,	,		19254	0		0	False		,,,				2504	0					ENST00000294728.2																			0				central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(27)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56						c.(1654-1656)aaC>aaT		vascular cell adhesion molecule 1	Carvedilol(DB01136)	C	,,	0,4406		0,0,2203	41	45	44		1656,1470,1380	1.9	0.8	1		44	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous,coding-synonymous,coding-synonymous	VCAM1	NM_001078.3,NM_001199834.1,NM_080682.2	,,	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	,,	552/740,490/678,460/648	101198104	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	7412				heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|leukocyte tethering or rolling|membrane to membrane docking|positive regulation of T cell proliferation|regulation of immune response	alpha9-beta1 integrin-vascular cell adhesion molecule-1 complex|apical part of cell|external side of plasma membrane|extracellular space|filopodium|integral to membrane|microvillus|podosome	cell adhesion molecule binding|integrin binding	g.chr1:101198104C>T	M60335	CCDS773.1, CCDS774.1, CCDS55617.1	1p32-p31	2014-01-30			ENSG00000162692	ENSG00000162692		"CD molecules", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Endogenous ligands"	12663	protein-coding gene	gene with protein product		192225					Standard	NM_080682		Approved	CD106	uc001dti.3	P19320	OTTHUMG00000010982	ENST00000294728.2:c.1656C>T	1.37:g.101198104C>T						VCAM1_ENST00000347652.2_Silent_p.N460N|VCAM1_ENST00000370115.1_Silent_p.N353N|VCAM1_ENST00000370119.4_Silent_p.N490N	p.N552N	NM_001078.3	NP_001069.1	P19320	VCAM1_HUMAN		Epithelial(280;0.0227)|all cancers(265;0.0276)|COAD - Colon adenocarcinoma(174;0.149)|Colorectal(144;0.169)|Lung(183;0.196)	7	1757	+		all_epithelial(167;3.83e-06)|all_lung(203;0.000485)|Lung NSC(277;0.0011)	552			Ig-like C2-type 6.		A8K6R7|B4DKS4|E9PDD1|Q6NUP8	Silent	SNP	ENST00000294728.2	37	c.1656C>T	CCDS773.1																																																																																				0.483	VCAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030213.1	NM_001078		17	72	0	0	0	1	0	17	72					T	101198104	C	T	101198104	2	4	202	1	0	0	0	0	0	0	0	1	17134	535	19	1		1	VCAM1	1	101198104	Silent	SNP	C	TCGA-HC-7210-01A-11D-2114-08	48257009	101198104	148052517	4	9301											
F5	2153	broad.mit.edu	37	chr1	169489881	169489881	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attctcttttattgtagaggCatctgaattgccattaaaat	12	17	6	6	0	2	2	0	1	2	1	3	2	2	2	1	1	1	2	1	1	5	7			TCGA-HC-7210-01A-11D-2114-08	TCGA-HC-7210-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed251d-bf15-4ec0-af02-0dc5e856907e	d1e9fad6-a37e-4dd5-8011-6cff3fa8fd57	g.chr1:169489881C>T	ENST00000367797.3	-	22	6271	c.6070G>A	c.(6070-6072)Gcc>Acc	p.A2024T	F5_ENST00000367796.3_Missense_Mutation_p.A2029T	NM_000130.4	NP_000121	P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	2024	F5/8 type C 1. {ECO:0000255|PROSITE- ProRule:PRU00081}.				blood circulation (GO:0008015)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)|vesicle (GO:0031982)	copper ion binding (GO:0005507)			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				ART-123(DB05777)|Drotrecogin alfa(DB00055)	ATTGTAGAGGCATCTGAATTG	0.323																																						ENST00000367796.3																			0				NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128						c.(6085-6087)Gcc>Acc		coagulation factor V (proaccelerin, labile factor)	Drotrecogin alfa(DB00055)						53	53	53					1																	169489881		2203	4300	6503	SO:0001583	missense	2153				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity	g.chr1:169489881C>T	M14335	CCDS1281.1	1q23	2012-10-02			ENSG00000198734	ENSG00000198734			3542	protein-coding gene	gene with protein product		612309					Standard	NM_000130		Approved		uc001ggg.1	P12259	OTTHUMG00000034595	ENST00000367797.3:c.6070G>A	1.37:g.169489881C>T	ENSP00000356771:p.Ala2024Thr					F5_ENST00000367797.3_Missense_Mutation_p.A2024T	p.A2029T			P12259	FA5_HUMAN			22	6286	-	all_hematologic(923;0.208)		2024			F5/8 type C 1.		A8K6E8|Q14285|Q2EHR5|Q5R346|Q5R347|Q6UPU6|Q8WWQ6	Missense_Mutation	SNP	ENST00000367797.3	37	c.6085G>A	CCDS1281.1	.	.	.	.	.	.	.	.	.	.	C	24.8	4.566960	0.86439	.	.	ENSG00000198734	ENST00000367797;ENST00000367796	D;D	0.98280	-4.84;-4.84	5.46	5.46	0.80206	Coagulation factor 5/8 C-terminal type domain (3);Galactose-binding domain-like (1);	0.172376	0.50627	D	0.000114	D	0.98324	0.9444	L	0.50919	1.6	0.29819	N	0.831005	D	0.64830	0.994	D	0.67231	0.95	D	0.99849	1.1069	9	0.72032	D	0.01	-13.11	18.9125	0.92491	0.0:1.0:0.0:0.0	.	2024	P12259	FA5_HUMAN	T	2024;2029	ENSP00000356771:A2024T;ENSP00000356770:A2029T	ENSP00000356770:A2029T	A	-	1	0	F5	167756505	1.000000	0.71417	1.000000	0.80357	0.929000	0.56500	1.864000	0.39469	2.563000	0.86464	0.655000	0.94253	GCC		0.323	F5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000083712.1	NM_000130		9	47	0	0	0	1	0	9	47					T	169489881	C	T	169489881	3	4	202	1	0	0	0	0	1	0	0	0	5348	710	25	3	620	3	F5	1	169489881	Missense_Mutation	SNP	C	TCGA-HC-7210-01A-11D-2114-08	68291777	169489881	79760740	5	9302											
KIF21B	23046	broad.mit.edu	37	chr1	200944676	200944676	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	acttcttgatgccgttatctCgggagccactgaacaggatg	9	11	11	10	2	2	2	0	2	2	0	3	4	2	4	2	2	3	1	2	2	2	3			TCGA-HC-7210-01A-11D-2114-08	TCGA-HC-7210-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed251d-bf15-4ec0-af02-0dc5e856907e	d1e9fad6-a37e-4dd5-8011-6cff3fa8fd57	g.chr1:200944676C>T	ENST00000422435.2	-	33	4881	c.4565G>A	c.(4564-4566)cGa>cAa	p.R1522Q	KIF21B_ENST00000360529.5_Missense_Mutation_p.R1509Q|KIF21B_ENST00000332129.2_Missense_Mutation_p.R1509Q|KIF21B_ENST00000461742.2_Missense_Mutation_p.R1522Q	NM_001252100.1	NP_001239029.1	O75037	KI21B_HUMAN	kinesin family member 21B	1522					ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						GCCGTTATCTCGGGAGCCACT	0.597																																						ENST00000332129.2																			0				autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						c.(4525-4527)cGa>cAa		kinesin family member 21B							123	100	108					1																	200944676		2203	4300	6503	SO:0001583	missense	23046				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr1:200944676C>T	BC031927	CCDS30965.1, CCDS58054.1, CCDS58055.1, CCDS58056.1	1q32.1	2013-01-10			ENSG00000116852	ENSG00000116852		"Kinesins", "WD repeat domain containing"	29442	protein-coding gene	gene with protein product		608322				9455484	Standard	NM_001252100		Approved	DKFZP434J212, KIAA0449	uc001gvs.2	O75037	OTTHUMG00000035787	ENST00000422435.2:c.4565G>A	1.37:g.200944676C>T	ENSP00000411831:p.Arg1522Gln					KIF21B_ENST00000360529.5_Missense_Mutation_p.R1509Q|KIF21B_ENST00000422435.2_Missense_Mutation_p.R1522Q|KIF21B_ENST00000461742.2_Missense_Mutation_p.R1522Q	p.R1509Q	NM_001252102.1|NM_001252103.1|NM_017596.3	NP_001239031.1|NP_001239032.1|NP_060066.2	O75037	KI21B_HUMAN			32	4842	-			1522					B2RP62|B7ZMI0|Q5T4J3	Missense_Mutation	SNP	ENST00000422435.2	37	c.4526G>A	CCDS58056.1	.	.	.	.	.	.	.	.	.	.	C	36	5.644880	0.96704	.	.	ENSG00000116852	ENST00000332129;ENST00000360529;ENST00000461742;ENST00000422435;ENST00000539858	T;T;T;T	0.62941	-0.01;-0.01;-0.01;-0.01	5.0	5.0	0.66597	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.151862	0.41712	D	0.000840	T	0.80470	0.4629	M	0.91872	3.25	0.45883	D	0.998736	D;D;D;D	0.63880	0.993;0.993;0.993;0.992	P;P;P;P	0.55785	0.591;0.784;0.591;0.455	D	0.85930	0.1451	10	0.72032	D	0.01	.	17.9092	0.88929	0.0:1.0:0.0:0.0	.	1509;1522;1522;1509	B7ZMI0;B2RP62;O75037;O75037-2	.;.;KI21B_HUMAN;.	Q	1509;1509;1522;1522;1522	ENSP00000328494:R1509Q;ENSP00000353724:R1509Q;ENSP00000433808:R1522Q;ENSP00000411831:R1522Q	ENSP00000328494:R1509Q	R	-	2	0	KIF21B	199211299	1.000000	0.71417	0.988000	0.46212	0.803000	0.45373	7.734000	0.84928	2.302000	0.77476	0.561000	0.74099	CGA		0.597	KIF21B-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382635.1	XM_371332		18	56	0	0	0	1	0	18	56					T	200944676	C	T	200944676	3	4	202	1	0	0	0	0	1	0	0	0	8289	884	31	2	360	2	KIF21B	1	200944676	Missense_Mutation	SNP	C	TCGA-HC-7210-01A-11D-2114-08	31454795	200944676	48305945	6	9303											
ZNF512	84450	broad.mit.edu	37	chr2	27822524	27822524	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aagactatcgagaatttcctCagaagaagcataagctttat	16	11	7	7	1	1	4	1	0	0	4	3	5	2	4	1	0	2	2	1	0	7	5			TCGA-HC-7210-01A-11D-2114-08	TCGA-HC-7210-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed251d-bf15-4ec0-af02-0dc5e856907e	d1e9fad6-a37e-4dd5-8011-6cff3fa8fd57	g.chr2:27822524C>T	ENST00000355467.4	+	4	435	c.352C>T	c.(352-354)Cag>Tag	p.Q118*	ZNF512_ENST00000556601.1_Silent_p.L28L|ZNF512_ENST00000413371.2_Nonsense_Mutation_p.Q41*|ZNF512_ENST00000494548.1_3'UTR|ZNF512_ENST00000416005.2_Nonsense_Mutation_p.Q117*|ZNF512_ENST00000379717.1_Nonsense_Mutation_p.Q117*|RP11-158I13.2_ENST00000505973.1_RNA	NM_001271287.1|NM_001271288.1|NM_001271289.1|NM_001271318.1|NM_032434.3	NP_001258216.1|NP_001258217.1|NP_001258218.1|NP_001258247.1|NP_115810.2	Q96ME7	ZN512_HUMAN	zinc finger protein 512	118					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	Acute lymphoblastic leukemia(172;0.155)					AGAATTTCCTCAGAAGAAGCA	0.418																																						ENST00000355467.4																			0				breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						c.(352-354)Cag>Tag		zinc finger protein 512							133	128	129					2																	27822524		2203	4300	6503	SO:0001587	stop_gained	84450				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr2:27822524C>T	AL833748	CCDS1758.1, CCDS59428.1, CCDS59429.1	2p23	2008-02-05			ENSG00000243943	ENSG00000243943		"Zinc fingers, C2H2-type"	29380	protein-coding gene	gene with protein product						11347906	Standard	NM_032434		Approved	KIAA1805	uc002rla.4	Q96ME7	OTTHUMG00000097786	ENST00000355467.4:c.352C>T	2.37:g.27822524C>T	ENSP00000347648:p.Gln118*					ZNF512_ENST00000494548.1_3'UTR|ZNF512_ENST00000413371.2_Nonsense_Mutation_p.Q41*|ZNF512_ENST00000379717.1_Nonsense_Mutation_p.Q117*|ZNF512_ENST00000416005.2_Nonsense_Mutation_p.Q117*|RP11-158I13.2_ENST00000505973.1_RNA|ZNF512_ENST00000556601.1_Silent_p.L28L	p.Q118*			Q96ME7	ZN512_HUMAN			4	435	+	Acute lymphoblastic leukemia(172;0.155)		118					B4DSM5|Q53RZ7|Q86XK6|Q96JM0	Nonsense_Mutation	SNP	ENST00000355467.4	37	c.352C>T	CCDS1758.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.130307	0.77549	.	.	ENSG00000243943	ENST00000379717;ENST00000355467;ENST00000416005;ENST00000413371	.	.	.	5.12	5.12	0.69794	.	0.108088	0.41938	D	0.000800	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-17.185	11.0524	0.47898	0.185:0.815:0.0:0.0	.	.	.	.	X	117;118;117;41	.	ENSP00000347648:Q118X	Q	+	1	0	ZNF512	27676028	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.582000	0.46085	2.668000	0.90789	0.655000	0.94253	CAG		0.418	ZNF512-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000215029.2	NM_032434		10	47	0	0	0	1	0	10	47					T	27822524	C	T	27822524	4	4	202	1	0	0	0	0	0	1	0	0	17953	827	29	3	366	3	ZNF512	2	27822524	Nonsense_Mutation	SNP	C	TCGA-HC-7210-01A-11D-2114-08		27822524	215376849	7	9304											
BIRC6	57448	broad.mit.edu	37	chr2	32712725	32712725	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aattttcagtatcacagtctCccactggaacagatgattca	13	12	6	10	0	4	2	3	1	1	1	5	3	4	3	1	1	1	1	1	1	3	4			TCGA-HC-7210-01A-11D-2114-08	TCGA-HC-7210-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed251d-bf15-4ec0-af02-0dc5e856907e	d1e9fad6-a37e-4dd5-8011-6cff3fa8fd57	g.chr2:32712725C>A	ENST00000421745.2	+	41	7959	c.7825C>A	c.(7825-7827)Ccc>Acc	p.P2609T		NM_016252.3	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	2609					apoptotic process (GO:0006915)|labyrinthine layer development (GO:0060711)|mitotic nuclear division (GO:0007067)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cell proliferation (GO:0042127)|regulation of cytokinesis (GO:0032465)|spongiotrophoblast layer development (GO:0060712)	endosome (GO:0005768)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|midbody (GO:0030496)|spindle pole (GO:0000922)|trans-Golgi network (GO:0005802)	acid-amino acid ligase activity (GO:0016881)|cysteine-type endopeptidase inhibitor activity (GO:0004869)|ubiquitin-protein transferase activity (GO:0004842)			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					ATCACAGTCTCCCACTGGAAC	0.328																																					Pancreas(94;175 1509 16028 18060 45422)	ENST00000421745.2																			0				NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172						c.(7825-7827)Ccc>Acc		baculoviral IAP repeat containing 6							84	89	88					2																	32712725		2203	4300	6503	SO:0001583	missense	57448				anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding	g.chr2:32712725C>A	AF265555	CCDS33175.2	2p22.3	2011-01-25	2011-01-25		ENSG00000115760	ENSG00000115760		"Baculoviral IAP repeat containing", "Ubiquitin-conjugating enzymes E2"	13516	protein-coding gene	gene with protein product	"apollon"	605638	"baculoviral IAP repeat-containing 6"			10544019	Standard	NM_016252		Approved	BRUCE	uc010ezu.3	Q9NR09	OTTHUMG00000150528	ENST00000421745.2:c.7825C>A	2.37:g.32712725C>A	ENSP00000393596:p.Pro2609Thr						p.P2609T	NM_016252.3	NP_057336.3	Q9NR09	BIRC6_HUMAN			41	7959	+	Acute lymphoblastic leukemia(172;0.155)		2609					Q9ULD1	Missense_Mutation	SNP	ENST00000421745.2	37	c.7825C>A	CCDS33175.2	.	.	.	.	.	.	.	.	.	.	C	13.04	2.118119	0.37339	.	.	ENSG00000115760	ENST00000421745	T	0.74947	-0.89	5.53	5.53	0.82687	.	0.133773	0.52532	D	0.000079	T	0.58764	0.2145	N	0.12182	0.205	0.45295	D	0.998296	B	0.02656	0.0	B	0.04013	0.001	T	0.56086	-0.8037	10	0.49607	T	0.09	.	14.3312	0.66559	0.1482:0.8517:0.0:0.0	.	2609	Q9NR09	BIRC6_HUMAN	T	2609	ENSP00000393596:P2609T	ENSP00000393596:P2609T	P	+	1	0	BIRC6	32566229	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.926000	0.40084	2.597000	0.87782	0.563000	0.77884	CCC		0.328	BIRC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318769.3	NM_016252		25	85	1	0	3.01185e-09	1	3.1255e-09	25	85					A	32712725	C	A	32712725	3	1	202	1	0	0	0	0	1	0	0	0	1438	855	30	5	7987	5	BIRC6	2	32712725	Missense_Mutation	SNP	C	TCGA-HC-7210-01A-11D-2114-08	4890201	32712725	210486648	8	9305											
ATIC	471	broad.mit.edu	37	chr2	216211488	216211488	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tctgtgttcctcaggttatcGgcattggagcaggacagcag	8	11	13	9	1	2	0	1	0	1	0	4	2	3	2	1	4	2	5	1	4	1	3	rs201074610		TCGA-HC-7210-01A-11D-2114-08	TCGA-HC-7210-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed251d-bf15-4ec0-af02-0dc5e856907e	d1e9fad6-a37e-4dd5-8011-6cff3fa8fd57	g.chr2:216211488G>A	ENST00000236959.9	+	14	1653	c.1327G>A	c.(1327-1329)Ggc>Agc	p.G443S	ATIC_ENST00000435675.1_Missense_Mutation_p.G442S|ATIC_ENST00000540518.1_Missense_Mutation_p.G384S	NM_004044.6	NP_004035.2	P31939	PUR9_HUMAN	5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase	443					'de novo' IMP biosynthetic process (GO:0006189)|brainstem development (GO:0003360)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|dihydrofolate metabolic process (GO:0046452)|nucleobase-containing compound metabolic process (GO:0006139)|nucleobase-containing small molecule metabolic process (GO:0055086)|nucleoside metabolic process (GO:0009116)|organ regeneration (GO:0031100)|purine nucleobase metabolic process (GO:0006144)|purine ribonucleoside monophosphate biosynthetic process (GO:0009168)|response to inorganic substance (GO:0010035)|small molecule metabolic process (GO:0044281)|tetrahydrofolate biosynthetic process (GO:0046654)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)	IMP cyclohydrolase activity (GO:0003937)|phosphoribosylaminoimidazolecarboxamide formyltransferase activity (GO:0004643)|protein homodimerization activity (GO:0042803)		ATIC/ALK(24)	large_intestine(2)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	8		Renal(323;0.229)		Epithelial(149;2.02e-06)|all cancers(144;0.000316)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.0097)	Methotrexate(DB00563)|Pemetrexed(DB00642)|Tetrahydrofolic acid(DB00116)	TCAGGTTATCGGCATTGGAGC	0.433			T	ALK	ALCL																																	ENST00000435675.1				Dom	yes		2	2q35	471	T	5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase			L	ALK		ALCL	ATIC/ALK(24)	0				large_intestine(2)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	8						c.(1324-1326)Ggc>Agc		5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase	Tetrahydrofolic acid(DB00116)						190	177	181					2																	216211488		2203	4300	6503	SO:0001583	missense	471				IMP biosynthetic process|purine base metabolic process	cytosol	IMP cyclohydrolase activity|phosphoribosylaminoimidazolecarboxamide formyltransferase activity|protein homodimerization activity	g.chr2:216211488G>A		CCDS2398.1	2q35	2010-04-27			ENSG00000138363	ENSG00000138363	2.1.2.3, 3.5.4.10		794	protein-coding gene	gene with protein product	"phosphoribosylaminoimidazolecarboxamide formyltransferase/IMP cyclohydrolase"	601731				8567683, 9378707	Standard	NM_004044		Approved	PURH, AICARFT, IMPCHASE	uc002vex.4	P31939	OTTHUMG00000133023	ENST00000236959.9:c.1327G>A	2.37:g.216211488G>A	ENSP00000236959:p.Gly443Ser					ATIC_ENST00000236959.9_Missense_Mutation_p.G443S|ATIC_ENST00000540518.1_Missense_Mutation_p.G384S	p.G442S			P31939	PUR9_HUMAN		Epithelial(149;2.02e-06)|all cancers(144;0.000316)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.0097)	13	1715	+		Renal(323;0.229)	443					A8K202|E9PBU3|Q13856|Q53S28	Missense_Mutation	SNP	ENST00000236959.9	37	c.1324G>A	CCDS2398.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	36|36	5.823964|5.823964	0.96989|0.96989	.|.	.|.	ENSG00000138363|ENSG00000138363	ENST00000236959;ENST00000540518;ENST00000435675|ENST00000446622;ENST00000426233	D;D;D|.	0.90069|.	-2.61;-2.61;-2.61|.	5.86|5.86	5.86|5.86	0.93980|0.93980	AICAR transformylase domain (1);Cytidine deaminase-like (1);|.	0.044532|.	0.85682|.	D|.	0.000000|.	D|D	0.88654|0.88654	0.6495|0.6495	H|H	0.96015|0.96015	3.755|3.755	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.97110|.	1.0;1.0|.	D|D	0.91002|0.91002	0.4843|0.4843	10|5	0.87932|.	D|.	0|.	-16.6532|-16.6532	20.5632|20.5632	0.99335|0.99335	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	442;443|.	E9PBU3;P31939|.	.;PUR9_HUMAN|.	S|Q	443;384;442|136;111	ENSP00000236959:G443S;ENSP00000440523:G384S;ENSP00000415935:G442S|.	ENSP00000236959:G443S|.	G|R	+|+	1|2	0|0	ATIC|ATIC	215919733|215919733	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.991000|0.991000	0.79684|0.79684	9.758000|9.758000	0.98927|0.98927	2.937000|2.937000	0.99478|0.99478	0.650000|0.650000	0.86243|0.86243	GGC|CGG		0.433	ATIC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256610.1	NM_004044		36	139	0	0	0	1	0	36	139					A	216211488	G	A	216211488	3	1	202	1	0	0	0	0	1	0	0	0	1105	1116	39	2	1381	2	ATIC	2	216211488	Missense_Mutation	SNP	G	TCGA-HC-7210-01A-11D-2114-08	183498763	216211488	26987885	9	9306											
ARL4C	10123	broad.mit.edu	37	chr2	235405080	235405080	+	Nonsense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccgttgctcagcttgatctTctcggtgttgaagccgatgg	5	13	13	10	3	3	2	1	2	2	0	4	3	3	2	2	2	3	4	2	2	1	4			TCGA-HC-7210-01A-11D-2114-08	TCGA-HC-7210-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed251d-bf15-4ec0-af02-0dc5e856907e	d1e9fad6-a37e-4dd5-8011-6cff3fa8fd57	g.chr2:235405080T>A	ENST00000390645.2	-	1	617	c.151A>T	c.(151-153)Aag>Tag	p.K51*	ARL4C_ENST00000339728.3_Nonsense_Mutation_p.K51*	NM_005737.3	NP_005728.2	P56559	ARL4C_HUMAN	ADP-ribosylation factor-like 4C	51					endocytic recycling (GO:0032456)|GTP catabolic process (GO:0006184)|small GTPase mediated signal transduction (GO:0007264)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	alpha-tubulin binding (GO:0043014)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)			endometrium(1)|ovary(1)|skin(1)|urinary_tract(1)	4		Breast(86;0.000596)|Renal(207;0.00339)|all_lung(227;0.00354)|all_hematologic(139;0.0494)|Lung NSC(271;0.0496)|Lung SC(224;0.164)|all_neural(83;0.173)		Epithelial(121;2.6e-19)|BRCA - Breast invasive adenocarcinoma(100;0.000296)|Lung(119;0.002)|LUSC - Lung squamous cell carcinoma(224;0.0048)		AGCTTGATCTTCTCGGTGTTG	0.622																																					Esophageal Squamous(157;1837 2534 13028 22831)	ENST00000390645.2																			0				endometrium(1)|ovary(1)|skin(1)|urinary_tract(1)	4						c.(151-153)Aag>Tag		ADP-ribosylation factor-like 4C							78	89	85					2																	235405080		2083	4221	6304	SO:0001587	stop_gained	10123				endocytic recycling|small GTPase mediated signal transduction	cytoplasm|filopodium|nucleus|plasma membrane	alpha-tubulin binding|GTP binding|GTPase activity	g.chr2:235405080T>A	AB016811	CCDS2512.1, CCDS63169.1	2q37.2	2014-05-09	2005-11-03	2005-11-03	ENSG00000188042	ENSG00000188042		"ADP-ribosylation factors-like", "ADP-ribosylation factors"	698	protein-coding gene	gene with protein product		604787	"ADP-ribosylation factor-like 7"	ARL7			Standard	NM_005737		Approved	LAK	uc002vvn.3	P56559	OTTHUMG00000133291	ENST00000390645.2:c.151A>T	2.37:g.235405080T>A	ENSP00000375057:p.Lys51*					ARL4C_ENST00000339728.3_Nonsense_Mutation_p.K51*	p.K51*	NM_005737.3	NP_005728.2	P56559	ARL4C_HUMAN		Epithelial(121;2.6e-19)|BRCA - Breast invasive adenocarcinoma(100;0.000296)|Lung(119;0.002)|LUSC - Lung squamous cell carcinoma(224;0.0048)	1	617	-		Breast(86;0.000596)|Renal(207;0.00339)|all_lung(227;0.00354)|all_hematologic(139;0.0494)|Lung NSC(271;0.0496)|Lung SC(224;0.164)|all_neural(83;0.173)	51					Q4A519|Q53R10|Q9BVN1|Q9UQ34	Nonsense_Mutation	SNP	ENST00000390645.2	37	c.151A>T	CCDS2512.1	.	.	.	.	.	.	.	.	.	.	T	41	8.948031	0.99014	.	.	ENSG00000188042	ENST00000390645;ENST00000339728	.	.	.	3.9	3.9	0.45041	.	0.107851	0.64402	D	0.000007	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.38643	T	0.18	-32.5389	8.4328	0.32769	0.0:0.0:0.1978:0.8022	.	.	.	.	X	51	.	ENSP00000339754:K51X	K	-	1	0	ARL4C	235069819	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	4.737000	0.62066	1.554000	0.49487	0.374000	0.22700	AAG		0.622	ARL4C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257073.1			14	55	0	0	0	1	0	14	55					A	235405080	T	A	235405080	4	1	202	1	0	0	0	0	0	1	0	0	937	1792	62	5	431	5	ARL4C	2	235405080	Nonsense_Mutation	SNP	T	TCGA-HC-7210-01A-11D-2114-08	19193592	235405080	7794293	10	9307											
DYNC1LI1	51143	broad.mit.edu	37	chr3	32571120	32571120	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acagatctatttggtgttcgTggggagcctcctgggactct	6	13	13	9	1	2	1	0	0	2	1	4	3	3	3	2	4	1	1	2	4	1	3			TCGA-HC-7210-01A-11D-2114-08	TCGA-HC-7210-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed251d-bf15-4ec0-af02-0dc5e856907e	d1e9fad6-a37e-4dd5-8011-6cff3fa8fd57	g.chr3:32571120T>G	ENST00000273130.4	-	11	1321	c.1218A>C	c.(1216-1218)ccA>ccC	p.P406P	DYNC1LI1_ENST00000432458.2_Silent_p.P290P	NM_016141.3	NP_057225.2	Q9Y6G9	DC1L1_HUMAN	dynein, cytoplasmic 1, light intermediate chain 1	406					microtubule-based movement (GO:0007018)|mitotic nuclear division (GO:0007067)|positive regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090267)|transport (GO:0006810)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic dynein complex (GO:0005868)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|spindle pole (GO:0000922)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)|poly(A) RNA binding (GO:0044822)			kidney(2)|large_intestine(1)|lung(3)|ovary(1)	7						TTGGTGTTCGTGGGGAGCCTC	0.373																																						ENST00000273130.4																			0				kidney(2)|large_intestine(1)|lung(3)|ovary(1)	7						c.(1216-1218)ccA>ccC		dynein, cytoplasmic 1, light intermediate chain 1							66	63	64					3																	32571120		2202	4300	6502	SO:0001819	synonymous_variant	51143				cell division|interspecies interaction between organisms|mitosis|positive regulation of mitotic cell cycle spindle assembly checkpoint|transport	centrosome|condensed chromosome kinetochore|cytoplasmic dynein complex|microtubule|plasma membrane|spindle pole	ATP binding|motor activity	g.chr3:32571120T>G	AF078849	CCDS2654.1	3p23	2013-01-18	2005-11-25	2005-11-25	ENSG00000144635	ENSG00000144635		"Cytoplasmic dyneins"	18745	protein-coding gene	gene with protein product		615890	"dynein, cytoplasmic, light intermediate polypeptide 1"	DNCLI1		16260502	Standard	NM_016141		Approved		uc003cfb.4	Q9Y6G9	OTTHUMG00000130750	ENST00000273130.4:c.1218A>C	3.37:g.32571120T>G						DYNC1LI1_ENST00000432458.2_Silent_p.P290P	p.P406P	NM_016141.3	NP_057225.2	Q9Y6G9	DC1L1_HUMAN			11	1321	-			406					A2RRG7|Q53HC8|Q53HK7	Silent	SNP	ENST00000273130.4	37	c.1218A>C	CCDS2654.1																																																																																				0.373	DYNC1LI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253250.1	NM_016141		5	17	0	0	0	1	0	5	17					G	32571120	T	G	32571120	2	3	202	1	0	0	0	0	0	0	0	1	4844	1683	59	5		5	DYNC1LI1	3	32571120	Silent	SNP	T	TCGA-HC-7210-01A-11D-2114-08		32571120	165451310	11	9308											
OPA1	4976	broad.mit.edu	37	chr3	193380716	193380716	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	taaccacagtccggaagaacCttgaatcccgaggagtagaa	15	6	10	10	2	0	3	0	1	0	2	2	6	2	5	4	2	2	1	4	2	6	3			TCGA-HC-7210-01A-11D-2114-08	TCGA-HC-7210-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed251d-bf15-4ec0-af02-0dc5e856907e	d1e9fad6-a37e-4dd5-8011-6cff3fa8fd57	g.chr3:193380716C>G	ENST00000392438.3	+	24	2695	c.2461C>G	c.(2461-2463)Ctt>Gtt	p.L821V	OPA1_ENST00000361510.2_Missense_Mutation_p.L876V|OPA1_ENST00000361828.2_Missense_Mutation_p.L839V|OPA1_ENST00000361150.2_Missense_Mutation_p.L822V|OPA1_ENST00000361908.3_Missense_Mutation_p.L858V|OPA1_ENST00000361715.2_Missense_Mutation_p.L840V	NM_015560.2	NP_056375.2	O60313	OPA1_HUMAN	optic atrophy 1 (autosomal dominant)	821					apoptotic process (GO:0006915)|axon transport of mitochondrion (GO:0019896)|cellular senescence (GO:0090398)|GTP catabolic process (GO:0006184)|inner mitochondrial membrane organization (GO:0007007)|mitochondrial fission (GO:0000266)|mitochondrial fusion (GO:0008053)|mitochondrion organization (GO:0007005)|negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902236)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|neural tube closure (GO:0001843)|visual perception (GO:0007601)	dendrite (GO:0030425)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial crista (GO:0030061)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|magnesium ion binding (GO:0000287)			breast(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(4)|lung(15)|upper_aerodigestive_tract(1)|urinary_tract(2)	31	all_cancers(143;9.56e-09)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;9.19e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000162)		CCGGAAGAACCTTGAATCCCG	0.388																																						ENST00000361510.2																			0				breast(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(4)|lung(15)|upper_aerodigestive_tract(1)|urinary_tract(2)	31						c.(2626-2628)Ctt>Gtt		optic atrophy 1 (autosomal dominant)							94	91	92					3																	193380716		2203	4300	6503	SO:0001583	missense	4976				apoptosis|axon transport of mitochondrion|inner mitochondrial membrane organization|mitochondrial fission|mitochondrial fusion|positive regulation of anti-apoptosis|response to stimulus|visual perception	dendrite|integral to membrane|mitochondrial crista|mitochondrial intermembrane space|mitochondrial outer membrane	GTP binding|GTPase activity|magnesium ion binding|protein binding	g.chr3:193380716C>G	AB011139	CCDS33917.1, CCDS43186.1	3q29	2014-09-17			ENSG00000198836	ENSG00000198836			8140	protein-coding gene	gene with protein product	"mitochondrial dynamin-like GTPase", "dynamin-like guanosine triphosphatase", "Dynamin-like 120 kDa protein, mitochondrial"	605290				9490303	Standard	NM_015560		Approved	NTG, KIAA0567, FLJ12460, NPG, MGM1	uc003ftg.3	O60313	OTTHUMG00000149897	ENST00000392438.3:c.2461C>G	3.37:g.193380716C>G	ENSP00000376233:p.Leu821Val					OPA1_ENST00000392438.3_Missense_Mutation_p.L821V|OPA1_ENST00000361828.2_Missense_Mutation_p.L839V|OPA1_ENST00000361715.2_Missense_Mutation_p.L840V|OPA1_ENST00000361908.3_Missense_Mutation_p.L858V|OPA1_ENST00000361150.2_Missense_Mutation_p.L822V	p.L876V	NM_130837.2	NP_570850.2	O60313	OPA1_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;9.19e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000162)	26	2860	+	all_cancers(143;9.56e-09)|Ovarian(172;0.0386)		821					D3DNW4	Missense_Mutation	SNP	ENST00000392438.3	37	c.2626C>G	CCDS43186.1	.	.	.	.	.	.	.	.	.	.	C	26.7	4.759533	0.89932	.	.	ENSG00000198836	ENST00000361908;ENST00000392438;ENST00000361510;ENST00000361715;ENST00000361828;ENST00000361150;ENST00000445863	D;D;D;D;D;D;D	0.96856	-3.78;-3.77;-3.73;-3.71;-3.75;-4.15;-2.81	5.85	5.85	0.93711	.	0.119124	0.64402	D	0.000017	D	0.97679	0.9239	M	0.64997	1.995	0.80722	D	1	P;D;P;P;D;P;D;P	0.89917	0.565;0.997;0.565;0.565;1.0;0.565;0.997;0.709	P;D;P;P;D;P;D;P	0.80764	0.541;0.991;0.541;0.463;0.994;0.463;0.991;0.463	D	0.97317	0.9941	10	0.44086	T	0.13	-13.7006	19.1531	0.93496	0.0:1.0:0.0:0.0	.	785;821;803;822;839;858;840;876	E5KLK2;O60313;E5KLK0;E5KLK1;E5KLJ6;E5KLJ7;E5KLJ9;E5KLJ5	.;OPA1_HUMAN;.;.;.;.;.;.	V	858;821;876;840;839;822;13	ENSP00000354681:L858V;ENSP00000376233:L821V;ENSP00000355324:L876V;ENSP00000355311:L840V;ENSP00000354429:L839V;ENSP00000354781:L822V;ENSP00000398358:L13V	ENSP00000354781:L822V	L	+	1	0	OPA1	194863410	1.000000	0.71417	0.998000	0.56505	0.999000	0.98932	7.398000	0.79919	2.753000	0.94483	0.655000	0.94253	CTT		0.388	OPA1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000313812.2	NM_130837		17	59	0	0	0	1	0	17	59					G	193380716	C	G	193380716	3	3	202	1	0	0	0	0	1	0	0	0	10871	681	24	5	2728	5	OPA1	3	193380716	Missense_Mutation	SNP	C	TCGA-HC-7210-01A-11D-2114-08	160809596	193380716	4641714	12	9309											
SLAIN2	57606	broad.mit.edu	37	chr4	48371866	48371866	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tttttgttgtcttcttctagGctgtattcatcaccaaagaa	9	18	6	8	0	5	1	2	0	3	1	5	1	5	1	1	1	0	3	1	1	4	8			TCGA-HC-7210-01A-11D-2114-08	TCGA-HC-7210-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed251d-bf15-4ec0-af02-0dc5e856907e	d1e9fad6-a37e-4dd5-8011-6cff3fa8fd57	g.chr4:48371866G>T	ENST00000264313.6	+	2	808	c.390G>T	c.(388-390)tgG>tgT	p.W130C	SLAIN2_ENST00000506375.1_3'UTR	NM_020846.1	NP_065897.1	Q9P270	SLAI2_HUMAN	SLAIN motif family, member 2	130					cytoplasmic microtubule organization (GO:0031122)|microtubule nucleation (GO:0007020)|positive regulation of microtubule polymerization (GO:0031116)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|prostate(1)	13						CTTCTTCTAGGCTGTATTCAT	0.373																																						ENST00000264313.6																			0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|prostate(1)	13						c.e2-1		SLAIN motif family, member 2							117	109	112					4																	48371866		1818	4083	5901	SO:0001630	splice_region_variant	57606					centrosome		g.chr4:48371866G>T	BC006139	CCDS47051.1	4p12	2008-02-05	2006-09-12	2006-09-12	ENSG00000109171	ENSG00000109171			29282	protein-coding gene	gene with protein product		610492	"KIAA1458"	KIAA1458		16546155	Standard	NM_020846		Approved	FLJ21611	uc003gya.4	Q9P270	OTTHUMG00000161701	ENST00000264313.6:c.390-1G>T	4.37:g.48371866G>T						SLAIN2_ENST00000506375.1_3'UTR	p.W130_splice	NM_020846.1	NP_065897.1	Q9P270	SLAI2_HUMAN			2	808	+			130					A8K4P1|Q8N5R3	Splice_Site	SNP	ENST00000264313.6	37	c.389_splice	CCDS47051.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.333980	0.81801	.	.	ENSG00000109171	ENST00000264313	.	.	.	5.85	5.85	0.93711	.	0.149879	0.48767	U	0.000179	T	0.79753	0.4500	M	0.73217	2.22	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.77747	-0.2472	8	.	.	.	.	20.1542	0.98100	0.0:0.0:1.0:0.0	.	130	Q9P270	SLAI2_HUMAN	C	130	.	.	W	+	3	0	SLAIN2	48066623	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	9.229000	0.95273	2.767000	0.95098	0.563000	0.77884	TGG		0.373	SLAIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365807.4	NM_020846	Missense_Mutation	15	57	1	0	1.37285e-15	1	1.48053e-15	15	57					T	48371866	G	T	48371866	5	4	202	1	0	0	0	0	0	0	1	0	14366	1217	42	5	396	5	SLAIN2	4	48371866	Splice_Site	SNP	G	TCGA-HC-7210-01A-11D-2114-08		48371866	142782410	13	9310											
TIGD2	166815	broad.mit.edu	37	chr4	90034422	90034422	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgggattccagtgtccggAacgatttgtgcaaaacaagc	12	9	12	8	2	0	0	0	0	0	0	2	4	2	2	2	2	4	1	2	2	4	2			TCGA-HC-7210-01A-11D-2114-08	TCGA-HC-7210-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed251d-bf15-4ec0-af02-0dc5e856907e	d1e9fad6-a37e-4dd5-8011-6cff3fa8fd57	g.chr4:90034422A>G	ENST00000317005.2	+	1	455	c.297A>G	c.(295-297)ggA>ggG	p.G99G	FAM13A_ENST00000502459.1_5'Flank|RP11-84C13.1_ENST00000603357.1_lincRNA	NM_145715.2	NP_663761.1	Q4W5G0	TIGD2_HUMAN	tigger transposable element derived 2	99	HTH CENPB-type. {ECO:0000255|PROSITE- ProRule:PRU00583}.					nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	14		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;3.86e-05)		CAGTGTCCGGAACGATTTGTG	0.418																																						ENST00000317005.2																			0				breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	14						c.(295-297)ggA>ggG		tigger transposable element derived 2							123	123	123					4																	90034422		2203	4300	6503	SO:0001819	synonymous_variant	166815				regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	DNA binding	g.chr4:90034422A>G	AK027653	CCDS3633.1	4q21.3	2013-02-21			ENSG00000180346	ENSG00000180346			18333	protein-coding gene	gene with protein product		612973					Standard	NM_145715		Approved		uc003hsk.3	Q4W5G0	OTTHUMG00000130946	ENST00000317005.2:c.297A>G	4.37:g.90034422A>G							p.G99G	NM_145715.2	NP_663761.1	Q4W5G0	TIGD2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;3.86e-05)	1	455	+		Hepatocellular(203;0.114)	99			HTH CENPB-type.			Silent	SNP	ENST00000317005.2	37	c.297A>G	CCDS3633.1																																																																																				0.418	TIGD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253545.2	NM_145715		11	118	0	0	0	1	0	11	118					G	90034422	A	G	90034422	2	3	202	1	0	0	0	0	0	0	0	1	15893	233	9	4		4	TIGD2	4	90034422	Silent	SNP	A	TCGA-HC-7210-01A-11D-2114-08	41662556	90034422	101119854	14	9311											
LARP1B	55132	broad.mit.edu	37	chr4	129121699	129121699	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gaaaacgcttgggaattggtCagtcccaagaaatgaatacc	15	8	10	8	1	1	2	1	1	0	1	2	4	2	3	2	2	2	1	2	2	7	3			TCGA-HC-7210-01A-11D-2114-08	TCGA-HC-7210-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed251d-bf15-4ec0-af02-0dc5e856907e	d1e9fad6-a37e-4dd5-8011-6cff3fa8fd57	g.chr4:129121699C>T	ENST00000326639.6	+	17	2399	c.2188C>T	c.(2188-2190)Cag>Tag	p.Q730*	LARP1B_ENST00000506199.1_3'UTR|LARP1B_ENST00000264584.5_Nonsense_Mutation_p.Q671*|LARP1B_ENST00000354456.3_Nonsense_Mutation_p.Q149*|LARP1B_ENST00000441387.1_Nonsense_Mutation_p.Q730*	NM_018078.2	NP_060548.2	Q659C4	LAR1B_HUMAN	La ribonucleoprotein domain family, member 1B	730						nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|lung(11)|ovary(1)|prostate(3)	34						GGGAATTGGTCAGTCCCAAGA	0.303																																						ENST00000326639.6																			0				endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|lung(11)|ovary(1)|prostate(3)	34						c.(2188-2190)Cag>Tag		La ribonucleoprotein domain family, member 1B							36	34	35					4																	129121699		2201	4291	6492	SO:0001587	stop_gained	55132						RNA binding	g.chr4:129121699C>T		CCDS3738.1, CCDS47133.1, CCDS64057.1	4q28.2	2009-06-09	2009-06-09	2009-06-09	ENSG00000138709	ENSG00000138709		"La ribonucleoprotein domain containing"	24704	protein-coding gene	gene with protein product			"La ribonucleoprotein domain family, member 2"	LARP2		12045101	Standard	NM_018078		Approved	FLJ10378, DKFZp434K245, DKFZp686E0316	uc003iga.3	Q659C4	OTTHUMG00000133343	ENST00000326639.6:c.2188C>T	4.37:g.129121699C>T	ENSP00000321997:p.Gln730*					LARP1B_ENST00000441387.1_Nonsense_Mutation_p.Q730*|LARP1B_ENST00000506199.1_3'UTR|LARP1B_ENST00000354456.3_Nonsense_Mutation_p.Q149*|LARP1B_ENST00000264584.5_Nonsense_Mutation_p.Q671*	p.Q730*	NM_018078.2	NP_060548.2	Q659C4	LAR1B_HUMAN			17	2399	+			730					Q2YDB6|Q4W599|Q4W5B2|Q659A0|Q6P5X2|Q7Z3F7|Q86VK7|Q8N6F4|Q8N7H4|Q8NAF2|Q9H5E7|Q9NW12	Nonsense_Mutation	SNP	ENST00000326639.6	37	c.2188C>T	CCDS3738.1	.	.	.	.	.	.	.	.	.	.	C	39	7.769299	0.98480	.	.	ENSG00000138709	ENST00000326639;ENST00000264584;ENST00000441387;ENST00000354456	.	.	.	4.54	4.54	0.55810	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.27785	T	0.31	.	17.517	0.87777	0.0:1.0:0.0:0.0	.	.	.	.	X	730;671;730;149	.	ENSP00000264584:Q671X	Q	+	1	0	LARP1B	129341149	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.300000	0.78841	2.364000	0.80123	0.561000	0.74099	CAG		0.303	LARP1B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257173.2	NM_018078		10	17	0	0	0	1	0	10	17					T	129121699	C	T	129121699	4	4	202	1	0	0	0	0	0	1	0	0	8629	827	29	3	2380	3	LARP1B	4	129121699	Nonsense_Mutation	SNP	C	TCGA-HC-7210-01A-11D-2114-08	39087277	129121699	62032577	15	9312											
SMARCA5	8467	broad.mit.edu	37	chr4	144466687	144466687	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttcctccacgtttatttgAattactggaaaaagaaattc	13	15	5	8	1	0	2	0	1	0	1	3	3	2	3	2	1	1	1	2	1	6	6			TCGA-HC-7210-01A-11D-2114-08	TCGA-HC-7210-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed251d-bf15-4ec0-af02-0dc5e856907e	d1e9fad6-a37e-4dd5-8011-6cff3fa8fd57	g.chr4:144466687A>T	ENST00000283131.3	+	18	2810	c.2348A>T	c.(2347-2349)gAa>gTa	p.E783V		NM_003601.3	NP_003592.3	O60264	SMCA5_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 5	783					ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|CENP-A containing nucleosome assembly (GO:0034080)|chromatin remodeling (GO:0006338)|chromatin silencing at rDNA (GO:0000183)|DNA-templated transcription, initiation (GO:0006352)|double-strand break repair (GO:0006302)|nucleosome assembly (GO:0006334)|nucleosome positioning (GO:0016584)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	chromatin silencing complex (GO:0005677)|condensed chromosome (GO:0000793)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|NURF complex (GO:0016589)|RSF complex (GO:0031213)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)		EWSR1/SMARCA5(2)	endometrium(2)|kidney(2)|large_intestine(9)|lung(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	all_hematologic(180;0.158)					CGTTTATTTGAATTACTGGAA	0.328																																						ENST00000283131.3																		EWSR1/SMARCA5(2)	0				endometrium(2)|kidney(2)|large_intestine(9)|lung(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(2347-2349)gAa>gTa		SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 5							66	72	70					4																	144466687		2203	4300	6503	SO:0001583	missense	8467				CenH3-containing nucleosome assembly at centromere|nucleosome positioning|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	condensed chromosome|nucleolus|nucleoplasm|NURF complex|RSF complex	ATP binding|ATPase activity|DNA binding|helicase activity|nucleosome binding|protein binding	g.chr4:144466687A>T	AB010882	CCDS3761.1	4q31.1-q31.2	2011-04-20			ENSG00000153147	ENSG00000153147			11101	protein-coding gene	gene with protein product		603375				9730600	Standard	NM_003601		Approved	hSNF2H, hISWI, ISWI	uc003ijg.3	O60264	OTTHUMG00000161474	ENST00000283131.3:c.2348A>T	4.37:g.144466687A>T	ENSP00000283131:p.Glu783Val						p.E783V	NM_003601.3	NP_003592.3	O60264	SMCA5_HUMAN			18	2810	+	all_hematologic(180;0.158)		783						Missense_Mutation	SNP	ENST00000283131.3	37	c.2348A>T	CCDS3761.1	.	.	.	.	.	.	.	.	.	.	A	24.5	4.533946	0.85812	.	.	ENSG00000153147	ENST00000283131;ENST00000536484;ENST00000535006	D	0.92048	-2.96	5.6	5.6	0.85130	ATPase, nucleosome remodelling ISWI, HAND domain (2);	0.000000	0.85682	D	0.000000	D	0.93468	0.7916	M	0.87547	2.89	0.80722	D	1	B	0.30211	0.273	B	0.34180	0.177	D	0.92867	0.6311	10	0.56958	D	0.05	-7.6886	15.8025	0.78463	1.0:0.0:0.0:0.0	.	783	O60264	SMCA5_HUMAN	V	783;726;726	ENSP00000283131:E783V	ENSP00000283131:E783V	E	+	2	0	SMARCA5	144686137	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.419000	0.80179	2.136000	0.66102	0.533000	0.62120	GAA		0.328	SMARCA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365077.3			15	59	0	0	0	1	0	15	59					T	144466687	A	T	144466687	3	4	202	1	0	0	0	0	1	0	0	0	14771	246	9	5	2418	5	SMARCA5	4	144466687	Missense_Mutation	SNP	A	TCGA-HC-7210-01A-11D-2114-08	15344988	144466687	46687589	16	9313											
FBN2	2201	broad.mit.edu	37	chr5	127710364	127710364	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccacagccaggcctgggggAcagtcacagcggaaggaccc	10	2	14	15	1	1	0	1	0	0	0	1	3	1	3	4	5	2	0	4	5	1	0			TCGA-HC-7210-01A-11D-2114-08	TCGA-HC-7210-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed251d-bf15-4ec0-af02-0dc5e856907e	d1e9fad6-a37e-4dd5-8011-6cff3fa8fd57	g.chr5:127710364A>G	ENST00000508053.1	-	21	3026	c.2052T>C	c.(2050-2052)tgT>tgC	p.C684C	FBN2_ENST00000508989.1_Silent_p.C651C|FBN2_ENST00000262464.4_Silent_p.C684C|FBN2_ENST00000511489.1_5'UTR			P35556	FBN2_HUMAN	fibrillin 2	684	EGF-like 10; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				anatomical structure morphogenesis (GO:0009653)|bone trabecula formation (GO:0060346)|embryonic limb morphogenesis (GO:0030326)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|sequestering of TGFbeta in extracellular matrix (GO:0035583)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		GGCCTGGGGGACAGTCACAGC	0.502																																						ENST00000508053.1																			0				NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197						c.(2050-2052)tgT>tgC		fibrillin 2							120	103	109					5																	127710364		2203	4300	6503	SO:0001819	synonymous_variant	2201				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent	g.chr5:127710364A>G	U03272	CCDS34222.1	5q23-q31	2008-08-01	2008-08-01			ENSG00000138829			3604	protein-coding gene	gene with protein product	"fibrillin 5"	612570	"congenital contractural arachnodactyly"	CCA		1852206, 8120105	Standard	NM_001999		Approved	DA9	uc003kuu.3	P35556		ENST00000508053.1:c.2052T>C	5.37:g.127710364A>G						FBN2_ENST00000511489.1_5'UTR|FBN2_ENST00000508989.1_Silent_p.C651C|FBN2_ENST00000262464.4_Silent_p.C684C	p.C684C			P35556	FBN2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)	21	3026	-		all_cancers(142;0.0216)|Prostate(80;0.0551)	684			EGF-like 10; calcium-binding.		B4DU01|Q59ES6	Silent	SNP	ENST00000508053.1	37	c.2052T>C	CCDS34222.1																																																																																				0.502	FBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371618.2	NM_001999		24	68	0	0	0	1	0	24	68					G	127710364	A	G	127710364	2	3	202	1	0	0	0	0	0	0	0	1	5703	273	10	4		4	FBN2	5	127710364	Silent	SNP	A	TCGA-HC-7210-01A-11D-2114-08		127710364	53204896	17	9314											
SLC26A8	116369	broad.mit.edu	37	chr6	35927511	35927511	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctcttttaacagcttatgctTtaggtagtaaacatttacaa	13	16	5	7	0	1	0	0	0	1	0	1	0	1	0	0	1	5	4	0	1	8	9			TCGA-HC-7210-01A-11D-2114-08	TCGA-HC-7210-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed251d-bf15-4ec0-af02-0dc5e856907e	d1e9fad6-a37e-4dd5-8011-6cff3fa8fd57	g.chr6:35927511T>C	ENST00000490799.1	-	15	2064	c.1711A>G	c.(1711-1713)Aag>Gag	p.K571E	SLC26A8_ENST00000355574.2_Missense_Mutation_p.K571E|SLC26A8_ENST00000394602.2_Missense_Mutation_p.K466E	NM_052961.3	NP_443193.1			solute carrier family 26 (anion exchanger), member 8											breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(16)|ovary(3)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	46						AGCTTATGCTTTAGGTAGTAA	0.473																																						ENST00000490799.1																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(16)|ovary(3)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	46						c.(1711-1713)Aag>Gag		solute carrier family 26 (anion exchanger), member 8							160	149	153					6																	35927511		2203	4300	6503	SO:0001583	missense	116369				cell differentiation|meiosis|multicellular organismal development|spermatogenesis	integral to membrane|plasma membrane	anion:anion antiporter activity|chloride channel activity|oxalate transmembrane transporter activity|protein binding|sulfate transmembrane transporter activity	g.chr6:35927511T>C	AF331522	CCDS4813.1, CCDS4814.1	6p21	2013-07-18	2013-07-18		ENSG00000112053	ENSG00000112053		"Solute carriers"	14468	protein-coding gene	gene with protein product		608480	"solute carrier family 26, member 8"			11834742, 11829495	Standard	NM_001193476		Approved		uc003olm.3	Q96RN1	OTTHUMG00000014586	ENST00000490799.1:c.1711A>G	6.37:g.35927511T>C	ENSP00000417638:p.Lys571Glu					SLC26A8_ENST00000355574.2_Missense_Mutation_p.K571E|SLC26A8_ENST00000394602.2_Missense_Mutation_p.K466E	p.K571E	NM_052961.3	NP_443193.1	Q96RN1	S26A8_HUMAN			15	2064	-			571			STAS.			Missense_Mutation	SNP	ENST00000490799.1	37	c.1711A>G	CCDS4813.1	.	.	.	.	.	.	.	.	.	.	T	20.2	3.953513	0.73902	.	.	ENSG00000112053	ENST00000490799;ENST00000394602;ENST00000355574	D;D;D	0.88741	-2.42;-2.42;-2.42	5.82	5.82	0.92795	Sulphate transporter/antisigma-factor antagonist STAS (4);	0.159936	0.43919	N	0.000514	T	0.77150	0.4088	L	0.39245	1.2	0.09310	N	1	B;B;P	0.42908	0.235;0.009;0.793	B;B;B	0.39258	0.066;0.02;0.295	T	0.74399	-0.3678	10	0.52906	T	0.07	.	12.6177	0.56586	0.0:0.0:0.0:1.0	.	571;466;153	Q96RN1;Q96RN1-2;Q96RN1-3	S26A8_HUMAN;.;.	E	571;466;571	ENSP00000417638:K571E;ENSP00000378100:K466E;ENSP00000347778:K571E	ENSP00000347778:K571E	K	-	1	0	SLC26A8	36035489	0.898000	0.30612	0.016000	0.15963	0.958000	0.62258	4.413000	0.59795	2.231000	0.72958	0.529000	0.55759	AAG		0.473	SLC26A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040325.2			22	100	0	0	0	1	0	22	100					C	35927511	T	C	35927511	3	2	202	1	0	0	0	0	1	0	0	0	14523	1850	64	4	1225	4	SLC26A8	6	35927511	Missense_Mutation	SNP	T	TCGA-HC-7210-01A-11D-2114-08		35927511	135187556	18	9315											
AUTS2	26053	broad.mit.edu	37	chr7	70252229	70252229	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcggccacaaggatggcccCagtgtgcagaactttagcaa	11	8	11	11	1	0	1	0	0	0	1	1	2	0	2	3	3	3	2	3	3	4	3			TCGA-HC-7210-01A-11D-2114-08	TCGA-HC-7210-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed251d-bf15-4ec0-af02-0dc5e856907e	d1e9fad6-a37e-4dd5-8011-6cff3fa8fd57	g.chr7:70252229C>A	ENST00000342771.4	+	18	2664	c.2343C>A	c.(2341-2343)ccC>ccA	p.P781P	AUTS2_ENST00000406775.2_Silent_p.P757P	NM_015570.2	NP_056385.1	Q8WXX7	AUTS2_HUMAN	autism susceptibility candidate 2	781										breast(2)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	50		all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093)		LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186)		AGGATGGCCCCAGTGTGCAGA	0.532																																						ENST00000342771.4																			0				breast(2)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	50						c.(2341-2343)ccC>ccA		autism susceptibility candidate 2							61	49	53					7																	70252229		2203	4300	6503	SO:0001819	synonymous_variant	26053							g.chr7:70252229C>A	AF326917	CCDS5539.1, CCDS47601.1, CCDS47602.1	7q11.22	2014-01-06			ENSG00000158321	ENSG00000158321			14262	protein-coding gene	gene with protein product		607270				12160723	Standard	XM_005250257		Approved	KIAA0442, FBRSL2	uc003tvw.4	Q8WXX7	OTTHUMG00000023865	ENST00000342771.4:c.2343C>A	7.37:g.70252229C>A						AUTS2_ENST00000406775.2_Silent_p.P757P	p.P781P	NM_015570.2	NP_056385.1	Q8WXX7	AUTS2_HUMAN		LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186)	18	2664	+		all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093)	781					A4D1Y9|L7QET3|L7QF75|Q5D049|Q6PJU5|Q9Y4F2	Silent	SNP	ENST00000342771.4	37	c.2343C>A	CCDS5539.1																																																																																				0.532	AUTS2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251971.2			13	37	1	0	2.31682e-05	1	2.35973e-05	13	37					A	70252229	C	A	70252229	2	1	202	1	0	0	0	0	0	0	0	1	1225	581	21	5		5	AUTS2	7	70252229	Silent	SNP	C	TCGA-HC-7210-01A-11D-2114-08		70252229	88886434	19	9316											
RELN	5649	broad.mit.edu	37	chr7	103180802	103180802	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaactcctgaagaagactccAcgagaggccaccgttgagag	13	5	12	11	2	0	5	0	2	0	4	2	8	2	5	4	1	1	1	4	1	3	1			TCGA-HC-7210-01A-11D-2114-08	TCGA-HC-7210-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed251d-bf15-4ec0-af02-0dc5e856907e	d1e9fad6-a37e-4dd5-8011-6cff3fa8fd57	g.chr7:103180802A>G	ENST00000428762.1	-	44	6931	c.6772T>C	c.(6772-6774)Tgg>Cgg	p.W2258R	RELN_ENST00000424685.2_Missense_Mutation_p.W2258R|RELN_ENST00000343529.5_Missense_Mutation_p.W2258R	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	2258					associative learning (GO:0008306)|axon guidance (GO:0007411)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|central nervous system development (GO:0007417)|cerebral cortex tangential migration (GO:0021800)|dendrite development (GO:0016358)|glial cell differentiation (GO:0010001)|hippocampus development (GO:0021766)|lateral motor column neuron migration (GO:0097477)|layer formation in cerebral cortex (GO:0021819)|long-term memory (GO:0007616)|N-methyl-D-aspartate receptor clustering (GO:0097114)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of lateral motor column neuron migration (GO:1902078)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of TOR signaling (GO:0032008)|postsynaptic density protein 95 clustering (GO:0097119)|receptor localization to synapse (GO:0097120)|reelin-mediated signaling pathway (GO:0038026)|regulation of behavior (GO:0050795)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of synaptic transmission (GO:0050804)|response to pain (GO:0048265)|spinal cord patterning (GO:0021511)|ventral spinal cord development (GO:0021517)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	lipoprotein particle receptor binding (GO:0070325)|metal ion binding (GO:0046872)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|serine-type peptidase activity (GO:0008236)|very-low-density lipoprotein particle receptor binding (GO:0070326)			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		AGAAGACTCCACGAGAGGCCA	0.517																																					NSCLC(146;835 1944 15585 22231 52158)	ENST00000424685.2																			0				NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227						c.(6772-6774)Tgg>Cgg		reelin							105	103	104					7																	103180802		2203	4300	6503	SO:0001583	missense	5649				axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity	g.chr7:103180802A>G		CCDS34722.1, CCDS47680.1	7q22	2008-07-18			ENSG00000189056	ENSG00000189056			9957	protein-coding gene	gene with protein product		600514				9049633	Standard	NM_005045		Approved	RL, PRO1598	uc010liz.3	P78509	OTTHUMG00000157247	ENST00000428762.1:c.6772T>C	7.37:g.103180802A>G	ENSP00000392423:p.Trp2258Arg					RELN_ENST00000343529.5_Missense_Mutation_p.W2258R|RELN_ENST00000428762.1_Missense_Mutation_p.W2258R	p.W2258R			P78509	RELN_HUMAN		COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)	44	6931	-			2258					A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Missense_Mutation	SNP	ENST00000428762.1	37	c.6772T>C	CCDS47680.1	.	.	.	.	.	.	.	.	.	.	A	20.3	3.975508	0.74360	.	.	ENSG00000189056	ENST00000428762;ENST00000343529;ENST00000424685;ENST00000448171	T;T;T	0.66099	-0.19;-0.19;-0.19	5.44	5.44	0.79542	Neuraminidase (2);	0.000000	0.85682	D	0.000000	T	0.80844	0.4701	M	0.82823	2.61	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.997	D	0.84048	0.0368	10	0.87932	D	0	.	15.7924	0.78376	1.0:0.0:0.0:0.0	.	2258;2258	P78509-2;P78509	.;RELN_HUMAN	R	2258	ENSP00000392423:W2258R;ENSP00000345694:W2258R;ENSP00000388446:W2258R	ENSP00000345694:W2258R	W	-	1	0	RELN	102968038	1.000000	0.71417	0.987000	0.45799	0.962000	0.63368	8.678000	0.91211	2.194000	0.70268	0.533000	0.62120	TGG		0.517	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348148.1	NM_005045		21	102	0	0	0	1	0	21	102					G	103180802	A	G	103180802	3	3	202	1	0	0	0	0	1	0	0	0	13220	159	6	4	3698	4	RELN	7	103180802	Missense_Mutation	SNP	A	TCGA-HC-7210-01A-11D-2114-08	32928573	103180802	55957861	20	9317											
CDHR3	222256	broad.mit.edu	37	chr7	105660967	105660967	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccttgattccagccccagatCtttccgttattccattggcc	6	14	6	15	1	1	2	0	1	1	1	4	2	4	2	7	1	1	1	7	1	1	6			TCGA-HC-7210-01A-11D-2114-08	TCGA-HC-7210-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed251d-bf15-4ec0-af02-0dc5e856907e	d1e9fad6-a37e-4dd5-8011-6cff3fa8fd57	g.chr7:105660967C>T	ENST00000317716.9	+	13	1882	c.1802C>T	c.(1801-1803)tCt>tTt	p.S601F	CDHR3_ENST00000470188.1_Intron|CDHR3_ENST00000343407.5_Intron|CDHR3_ENST00000478080.1_Missense_Mutation_p.S513F|CDHR3_ENST00000542731.1_Missense_Mutation_p.S601F	NM_152750.4	NP_689963.2	Q6ZTQ4	CDHR3_HUMAN	cadherin-related family member 3	601	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|cervix(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(15)|ovary(1)	23						AGCCCCAGATCTTTCCGTTAT	0.493																																						ENST00000542731.1																			0				breast(1)|cervix(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(15)|ovary(1)	23						c.(1801-1803)tCt>tTt		cadherin-related family member 3							141	124	129					7																	105660967		1890	4111	6001	SO:0001583	missense	222256				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr7:105660967C>T	AK126338	CCDS47684.1, CCDS75651.1	7q22.2	2011-07-01			ENSG00000128536	ENSG00000128536		"Cadherins / Cadherin-related"	26308	protein-coding gene	gene with protein product		615610					Standard	NM_152750		Approved	FLJ44366, FLJ23834, CDH28	uc003vdl.4	Q6ZTQ4	OTTHUMG00000157520	ENST00000317716.9:c.1802C>T	7.37:g.105660967C>T	ENSP00000325954:p.Ser601Phe					CDHR3_ENST00000343407.5_Intron|CDHR3_ENST00000317716.9_Missense_Mutation_p.S601F|CDHR3_ENST00000478080.1_Missense_Mutation_p.S513F|CDHR3_ENST00000470188.1_Intron	p.S601F			Q6ZTQ4	CDHR3_HUMAN			13	1910	+			601			Cadherin 6.		Q8TCI7	Missense_Mutation	SNP	ENST00000317716.9	37	c.1802C>T	CCDS47684.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.74|17.74	3.464765|3.464765	0.63513|0.63513	.|.	.|.	ENSG00000128536|ENSG00000128536	ENST00000468477|ENST00000542731;ENST00000317716;ENST00000478080	.|T;T;T	.|0.59502	.|0.26;0.26;1.14	5.55|5.55	5.55|5.55	0.83447|0.83447	.|Cadherin (2);Cadherin-like (1);	.|0.345821	.|0.28742	.|N	.|0.014299	T|T	0.74749|0.74749	0.3757|0.3757	M|M	0.65975|0.65975	2.015|2.015	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|0.999;1.0	.|D;D	.|0.71184	.|0.956;0.972	T|T	0.76812|0.76812	-0.2821|-0.2821	5|10	.|0.87932	.|D	.|0	-13.6952|-13.6952	17.6826|17.6826	0.88248|0.88248	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|588;601	.|B3KYA0;Q6ZTQ4	.|.;CDHR3_HUMAN	F|F	70|601;601;513	.|ENSP00000439766:S601F;ENSP00000325954:S601F;ENSP00000417771:S513F	.|ENSP00000325954:S601F	L|S	+|+	1|2	0|0	CDHR3|CDHR3	105448203|105448203	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.500000|0.500000	0.33767|0.33767	5.359000|5.359000	0.66074|0.66074	2.615000|2.615000	0.88500|0.88500	0.655000|0.655000	0.94253|0.94253	CTT|TCT		0.493	CDHR3-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000349025.2	NM_152750		19	61	0	0	0	1	0	19	61					T	105660967	C	T	105660967	3	4	202	1	0	0	0	0	1	0	0	0	3120	913	32	3	1852	3	CDHR3	7	105660967	Missense_Mutation	SNP	C	TCGA-HC-7210-01A-11D-2114-08	2480165	105660967	53477696	21	9318											
TSPAN12	23554	broad.mit.edu	37	chr7	120455842	120455842	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttctacacagaaaatgacaaGcaaacttccaaagtactgta	18	9	5	9	0	1	2	0	1	1	1	2	2	2	2	1	0	4	3	1	0	8	5			TCGA-HC-7210-01A-11D-2114-08	TCGA-HC-7210-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed251d-bf15-4ec0-af02-0dc5e856907e	d1e9fad6-a37e-4dd5-8011-6cff3fa8fd57	g.chr7:120455842G>A	ENST00000222747.3	-	5	908	c.301C>T	c.(301-303)Ctt>Ttt	p.L101F	TSPAN12_ENST00000415871.1_Missense_Mutation_p.L101F	NM_012338.3	NP_036470.1	O95859	TSN12_HUMAN	tetraspanin 12	101			L -> H (in EVR5). {ECO:0000269|PubMed:20159112}.		angiogenesis (GO:0001525)|cell surface receptor signaling pathway (GO:0007166)|regulation of angiogenesis (GO:0045765)|retina layer formation (GO:0010842)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)				endometrium(3)|kidney(1)|lung(4)|ovary(1)|skin(1)	10	all_neural(327;0.117)					AAAATGACAAGCAAACTTCCA	0.343																																						ENST00000222747.3																			0				endometrium(3)|kidney(1)|lung(4)|ovary(1)|skin(1)	10						c.(301-303)Ctt>Ttt		tetraspanin 12							73	65	68					7																	120455842		2203	4300	6503	SO:0001583	missense	23554				angiogenesis|cell surface receptor linked signaling pathway|regulation of angiogenesis|retina layer formation	integral to plasma membrane|membrane fraction		g.chr7:120455842G>A	AF124522	CCDS5777.1	7q31.31	2013-02-14	2005-03-21	2005-03-21	ENSG00000106025	ENSG00000106025		"Tetraspanins"	21641	protein-coding gene	gene with protein product		613138	"transmembrane 4 superfamily member 12"	TM4SF12			Standard	NM_012338		Approved	NET-2	uc003vjk.3	O95859	OTTHUMG00000156980	ENST00000222747.3:c.301C>T	7.37:g.120455842G>A	ENSP00000222747:p.Leu101Phe					TSPAN12_ENST00000415871.1_Missense_Mutation_p.L101F	p.L101F	NM_012338.3	NP_036470.1	O95859	TSN12_HUMAN			5	908	-	all_neural(327;0.117)		101		L -> H (in EVR5).			A4D0V8|B4DRG6|Q549U9|Q8N5Y0	Missense_Mutation	SNP	ENST00000222747.3	37	c.301C>T	CCDS5777.1	.	.	.	.	.	.	.	.	.	.	G	15.72	2.915768	0.52546	.	.	ENSG00000106025	ENST00000222747;ENST00000415871;ENST00000441017;ENST00000433758;ENST00000424710	T;T;T;T;T	0.79845	-1.31;-1.31;-1.31;-1.31;-1.31	5.25	5.25	0.73442	.	0.134534	0.51477	D	0.000092	T	0.81250	0.4783	L	0.49699	1.58	0.45899	D	0.998744	P	0.36438	0.553	P	0.46629	0.522	T	0.80034	-0.1551	10	0.42905	T	0.14	-18.5744	12.5588	0.56269	0.0765:0.0:0.9235:0.0	.	101	O95859	TSN12_HUMAN	F	101	ENSP00000222747:L101F;ENSP00000397699:L101F;ENSP00000411158:L101F;ENSP00000399059:L101F;ENSP00000404942:L101F	ENSP00000222747:L101F	L	-	1	0	TSPAN12	120243078	1.000000	0.71417	0.999000	0.59377	0.993000	0.82548	4.670000	0.61583	2.626000	0.88956	0.585000	0.79938	CTT		0.343	TSPAN12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346951.1	NM_012338		4	34	0	0	0	1	0	4	34					A	120455842	G	A	120455842	3	1	202	1	0	0	0	0	1	0	0	0	16633	971	34	3	632	3	TSPAN12	7	120455842	Missense_Mutation	SNP	G	TCGA-HC-7210-01A-11D-2114-08	14794875	120455842	38682821	22	9319											
HIPK2	28996	broad.mit.edu	37	chr7	139285234	139285234	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ggctgctgccgcatcacgtgGgccacacccacatttaaggg	8	7	12	14	2	1	0	1	0	0	0	1	0	1	0	3	3	2	3	3	3	1	2			TCGA-HC-7210-01A-11D-2114-08	TCGA-HC-7210-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed251d-bf15-4ec0-af02-0dc5e856907e	d1e9fad6-a37e-4dd5-8011-6cff3fa8fd57	g.chr7:139285234G>A	ENST00000406875.3	-	11	2458	c.2364C>T	c.(2362-2364)gcC>gcT	p.A788A	HIPK2_ENST00000428878.2_Silent_p.A761A|HIPK2_ENST00000342645.6_Silent_p.A788A	NM_022740.4	NP_073577.3	Q9H2X6	HIPK2_HUMAN	homeodomain interacting protein kinase 2	788	Interaction with CTBP1. {ECO:0000250}.|Interaction with HMGA1. {ECO:0000250}.|Interaction with POU4F1. {ECO:0000250}.|Interaction with SKI and SMAD1.				adult walking behavior (GO:0007628)|anterior/posterior pattern specification (GO:0009952)|cellular response to hypoxia (GO:0071456)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|erythrocyte differentiation (GO:0030218)|eye development (GO:0001654)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|iris morphogenesis (GO:0061072)|lens induction in camera-type eye (GO:0060235)|modulation by virus of host morphology or physiology (GO:0019048)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron differentiation (GO:0030182)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|PML body organization (GO:0030578)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA binding (GO:0043388)|positive regulation of JNK cascade (GO:0046330)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|protein phosphorylation (GO:0006468)|regulation of cell cycle (GO:0051726)|retina layer formation (GO:0010842)|SMAD protein signal transduction (GO:0060395)|smoothened signaling pathway (GO:0007224)|transforming growth factor beta receptor signaling pathway (GO:0007179)|voluntary musculoskeletal movement (GO:0050882)	cytoplasm (GO:0005737)|nuclear body (GO:0016604)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II transcription coactivator activity (GO:0001105)|SMAD binding (GO:0046332)|transcription corepressor activity (GO:0003714)|virion binding (GO:0046790)			breast(4)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Melanoma(164;0.205)					GCATCACGTGGGCCACACCCA	0.567																																						ENST00000406875.3																			0				breast(4)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						c.(2362-2364)gcC>gcT		homeodomain interacting protein kinase 2							96	101	99					7																	139285234		2154	4240	6394	SO:0001819	synonymous_variant	28996				apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|negative regulation of BMP signaling pathway|positive regulation of JNK cascade|positive regulation of transforming growth factor beta receptor signaling pathway|SMAD protein signal transduction|transcription, DNA-dependent|virus-host interaction	centrosome|nuclear membrane|PML body	ATP binding|protein serine/threonine kinase activity|SMAD binding|transcription corepressor activity|virion binding	g.chr7:139285234G>A	AF208291	CCDS75666.1, CCDS75667.1	7q32-q34	2004-01-29	2001-11-29		ENSG00000064393	ENSG00000064393			14402	protein-coding gene	gene with protein product		606868	"homeodomain-interacting protein kinase 2"			11120354	Standard	NM_001113239		Approved		uc003vvf.4	Q9H2X6	OTTHUMG00000157704	ENST00000406875.3:c.2364C>T	7.37:g.139285234G>A						HIPK2_ENST00000342645.6_Silent_p.A788A|HIPK2_ENST00000428878.2_Silent_p.A761A	p.A788A	NM_022740.4	NP_073577.3	Q9H2X6	HIPK2_HUMAN			11	2458	-	Melanoma(164;0.205)		788			Interaction with CTBP1 (By similarity).|Interaction with HMGA1 (By similarity).|Interaction with POU4F1 (By similarity).|Interaction with SKI and SMAD1.		Q75MR7|Q8WWI4|Q9H2Y1	Silent	SNP	ENST00000406875.3	37	c.2364C>T																																																																																					0.567	HIPK2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000349430.3	NM_022740		14	56	0	0	0	1	0	14	56					A	139285234	G	A	139285234	2	1	202	1	0	0	0	0	0	0	0	1	7117	1219	43	3		3	HIPK2	7	139285234	Silent	SNP	G	TCGA-HC-7210-01A-11D-2114-08	18829392	139285234	19853429	23	9320											
MEGF9	1955	broad.mit.edu	37	chr9	123367897	123367897	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gaaaccaaaatggtagaaccTtcaggtgttggaagaataac	17	8	10	6	0	1	2	1	0	0	2	1	4	1	3	2	3	3	2	2	3	8	4			TCGA-HC-7210-01A-11D-2114-08	TCGA-HC-7210-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed251d-bf15-4ec0-af02-0dc5e856907e	d1e9fad6-a37e-4dd5-8011-6cff3fa8fd57	g.chr9:123367897T>C	ENST00000373930.3	-	6	1491	c.1380A>G	c.(1378-1380)gaA>gaG	p.E460E	MEGF9_ENST00000426959.1_Silent_p.E497E	NM_001080497.2	NP_001073966.2	Q9H1U4	MEGF9_HUMAN	multiple EGF-like-domains 9	460						integral component of membrane (GO:0016021)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|upper_aerodigestive_tract(1)	16						TGGTAGAACCTTCAGGTGTTG	0.353																																						ENST00000373930.3																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|upper_aerodigestive_tract(1)	16						c.(1378-1380)gaA>gaG		multiple EGF-like-domains 9							36	32	33					9																	123367897		1826	4089	5915	SO:0001819	synonymous_variant	1955					integral to membrane	calcium ion binding	g.chr9:123367897T>C	AB011542	CCDS48010.1, CCDS48010.2	9q32-q33.3	2008-07-21	2006-03-31	2006-03-31	ENSG00000106780	ENSG00000106780			3234	protein-coding gene	gene with protein product		604268	"EGF-like-domain, multiple 5"	EGFL5		9693030	Standard	NM_001080497		Approved		uc022bms.1	Q9H1U4	OTTHUMG00000021039	ENST00000373930.3:c.1380A>G	9.37:g.123367897T>C						MEGF9_ENST00000426959.1_Silent_p.E497E	p.E460E	NM_001080497.2	NP_001073966.2	Q9H1U4	MEGF9_HUMAN			6	1491	-			460					B7Z315|O75098	Silent	SNP	ENST00000373930.3	37	c.1380A>G	CCDS48010.2																																																																																				0.353	MEGF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055513.1	NM_001080497		3	9	0	0	0	1	0	3	9					C	123367897	T	C	123367897	2	2	202	1	0	0	0	0	0	0	0	1	9464	1606	56	4		4	MEGF9	9	123367897	Silent	SNP	T	TCGA-HC-7210-01A-11D-2114-08		123367897	17845534	24	9321											
LHX3	8022	broad.mit.edu	37	chr9	139091725	139091725	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcgcacttggtcccgaagcGcctgcgggacgcacagggcc	6	4	16	15	5	0	0	0	0	0	0	1	2	1	1	3	4	2	2	3	4	1	1			TCGA-HC-7210-01A-11D-2114-08	TCGA-HC-7210-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed251d-bf15-4ec0-af02-0dc5e856907e	d1e9fad6-a37e-4dd5-8011-6cff3fa8fd57	g.chr9:139091725G>A	ENST00000371748.5	-	3	349	c.253C>T	c.(253-255)Cgc>Tgc	p.R85C	LHX3_ENST00000371746.3_Splice_Site_p.R90C	NM_178138.4	NP_835258.1	Q9UBR4	LHX3_HUMAN	LIM homeobox 3	85					inner ear development (GO:0048839)|lung development (GO:0030324)|medial motor column neuron differentiation (GO:0021526)|motor neuron axon guidance (GO:0008045)|negative regulation of apoptotic process (GO:0043066)|organ morphogenesis (GO:0009887)|pituitary gland development (GO:0021983)|placenta development (GO:0001890)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|spinal cord association neuron differentiation (GO:0021527)|spinal cord motor neuron cell fate specification (GO:0021520)|ventral spinal cord interneuron specification (GO:0021521)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			large_intestine(2)|lung(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	8		Myeloproliferative disorder(178;0.0511)		Epithelial(140;8.43e-08)|OV - Ovarian serous cystadenocarcinoma(145;1.26e-07)		GTCCCGAAGCGCCTGCGGGAC	0.721																																						ENST00000371746.3																			0				large_intestine(2)|lung(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	8						c.e3-1		LIM homeobox 3							7	6	7					9																	139091725		2124	4154	6278	SO:0001630	splice_region_variant	8022				inner ear development|organ morphogenesis|positive regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr9:139091725G>A	AF096169	CCDS6994.1, CCDS6995.1	9q34.3	2011-06-20			ENSG00000107187	ENSG00000107187		"Homeoboxes / LIM class"	6595	protein-coding gene	gene with protein product		600577				10598593, 10717474	Standard	NM_178138		Approved		uc004cgz.3	Q9UBR4	OTTHUMG00000020924	ENST00000371748.5:c.252-1C>T	9.37:g.139091725G>A						LHX3_ENST00000371748.5_Splice_Site_p.R85_splice	p.R90_splice	NM_014564.3	NP_055379.1	Q9UBR4	LHX3_HUMAN		Epithelial(140;8.43e-08)|OV - Ovarian serous cystadenocarcinoma(145;1.26e-07)	3	386	-		Myeloproliferative disorder(178;0.0511)	85			LIM zinc-binding 2.		Q5TB39|Q5TB40|Q9NZB5|Q9P0I8|Q9P0I9	Splice_Site	SNP	ENST00000371748.5	37	c.266_splice	CCDS6994.1	.	.	.	.	.	.	.	.	.	.	G	19.99	3.928003	0.73327	.	.	ENSG00000107187	ENST00000371748;ENST00000371746;ENST00000325195	D;D	0.87729	-2.29;-2.29	4.19	3.2	0.36748	Zinc finger, LIM-type (3);	0.000000	0.85682	D	0.000000	D	0.90048	0.6892	M	0.87328	2.875	0.80722	D	1	P;B	0.40250	0.709;0.348	P;B	0.46510	0.519;0.249	D	0.90932	0.4791	10	0.54805	T	0.06	.	11.4932	0.50394	0.0:0.0:0.7299:0.2701	.	85;90	Q9UBR4;F1T0D9	LHX3_HUMAN;.	C	85;90;88	ENSP00000360813:R85C;ENSP00000360811:R90C	ENSP00000319224:R88C	R	-	1	0	LHX3	138231546	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.344000	0.44010	2.172000	0.68678	0.561000	0.74099	CGC		0.721	LHX3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000055048.3		Missense_Mutation	3	7	0	0	0	1	0	3	7					A	139091725	G	A	139091725	5	1	202	1	0	0	0	0	0	0	1	0	8772	1101	38	1	956	1	LHX3	9	139091725	Splice_Site	SNP	G	TCGA-HC-7210-01A-11D-2114-08	15723828	139091725	2121706	25	9322											
DIP2C	22982	broad.mit.edu	37	chr10	408505	408505	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	taggacattgcaggggtgcaGagagccctccagaaaaagct	13	6	13	9	0	0	2	0	0	0	2	1	4	1	3	2	3	4	3	2	3	3	2			TCGA-HC-7210-01A-11D-2114-08	TCGA-HC-7210-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed251d-bf15-4ec0-af02-0dc5e856907e	d1e9fad6-a37e-4dd5-8011-6cff3fa8fd57	g.chr10:408505G>A	ENST00000280886.6	-	22	2806	c.2719C>T	c.(2719-2721)Ctg>Ttg	p.L907L	DIP2C_ENST00000381496.3_3'UTR|DIP2C_ENST00000540204.1_Silent_p.L228L	NM_014974.2	NP_055789.1	Q9Y2E4	DIP2C_HUMAN	DIP2 disco-interacting protein 2 homolog C (Drosophila)	907						nucleus (GO:0005634)	catalytic activity (GO:0003824)			breast(8)|endometrium(6)|kidney(10)|large_intestine(13)|lung(26)|ovary(3)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	81		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	OV - Ovarian serous cystadenocarcinoma(33;0.136)	Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		CAGGGGTGCAGAGAGCCCTCC	0.537																																						ENST00000280886.6																			0				breast(8)|endometrium(6)|kidney(10)|large_intestine(13)|lung(26)|ovary(3)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	81						c.(2719-2721)Ctg>Ttg		DIP2 disco-interacting protein 2 homolog C (Drosophila)							92	89	90					10																	408505		2203	4300	6503	SO:0001819	synonymous_variant	22982					nucleus	catalytic activity|transcription factor binding	g.chr10:408505G>A	BC035216	CCDS7054.1	10p15.3	2006-01-13	2006-01-13	2006-01-13	ENSG00000151240	ENSG00000151240			29150	protein-coding gene	gene with protein product		611380	"KIAA0934"	KIAA0934			Standard	NM_014974		Approved		uc001ifp.3	Q9Y2E4	OTTHUMG00000017532	ENST00000280886.6:c.2719C>T	10.37:g.408505G>A						DIP2C_ENST00000540204.1_Silent_p.L228L|DIP2C_ENST00000381496.3_3'UTR	p.L907L	NM_014974.2	NP_055789.1	Q9Y2E4	DIP2C_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;0.136)	Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106)	22	2806	-		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	907					B4DPI5|Q5SS78	Silent	SNP	ENST00000280886.6	37	c.2719C>T	CCDS7054.1																																																																																				0.537	DIP2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046389.1	NM_014974		11	48	0	0	0	1	0	11	48					A	408505	G	A	408505	2	1	202	1	0	0	0	0	0	0	0	1	4529	933	33	3		3	DIP2C	10	408505	Silent	SNP	G	TCGA-HC-7210-01A-11D-2114-08		408505	135126242	26	9323											
A1CF	29974	broad.mit.edu	37	chr10	52603796	52603796	+	Frame_Shift_Del	DEL	T	T	-																															tcaaaaaggtctcggggaagTtttccaataaaaatttcaca																										TCGA-HC-7210-01A-11D-2114-08	TCGA-HC-7210-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed251d-bf15-4ec0-af02-0dc5e856907e	d1e9fad6-a37e-4dd5-8011-6cff3fa8fd57	g.chr10:52603796delT	ENST00000373993.1	-	2	230	c.186delA	c.(184-186)aaafs	p.K62fs	A1CF_ENST00000395489.2_Frame_Shift_Del_p.K55fs|A1CF_ENST00000374001.2_Frame_Shift_Del_p.K62fs|A1CF_ENST00000282641.2_Frame_Shift_Del_p.K62fs|A1CF_ENST00000373997.3_Frame_Shift_Del_p.K62fs|A1CF_ENST00000373995.3_Frame_Shift_Del_p.K70fs|A1CF_ENST00000395495.1_Frame_Shift_Del_p.K62fs			Q9NQ94	A1CF_HUMAN	APOBEC1 complementation factor	62	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				cytidine to uridine editing (GO:0016554)|gene expression (GO:0010467)|mRNA modification (GO:0016556)|mRNA processing (GO:0006397)|protein stabilization (GO:0050821)	apolipoprotein B mRNA editing enzyme complex (GO:0030895)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)|single-stranded RNA binding (GO:0003727)			NS(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(14)|prostate(2)|skin(3)	29						CTCGGGGAAGTTTTCCAATAA	0.403																																						ENST00000395489.2																			0				NS(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(14)|prostate(2)|skin(3)	29						c.(163-165)aafs		APOBEC1 complementation factor							75	88	84					10																	52603796		2203	4300	6503	SO:0001589	frameshift_variant	29974				cytidine to uridine editing|mRNA modification|mRNA processing|protein stabilization	apolipoprotein B mRNA editing enzyme complex|endoplasmic reticulum|nucleoplasm	nucleotide binding|protein binding|single-stranded RNA binding	g.chr10:52603796delT	AF271790	CCDS7241.1, CCDS7242.1, CCDS7243.1, CCDS73133.1	10q21.1	2013-02-12			ENSG00000148584	ENSG00000148584		"RNA binding motif (RRM) containing"	24086	protein-coding gene	gene with protein product						11815617, 11072063	Standard	NM_014576		Approved	ACF, ASP, ACF64, ACF65, APOBEC1CF	uc001jjj.3	Q9NQ94	OTTHUMG00000018240	ENST00000373993.1:c.186delA	10.37:g.52603796delT	ENSP00000363105:p.Lys62fs					A1CF_ENST00000373995.3_Frame_Shift_Del_p.K70fs|A1CF_ENST00000373993.1_Frame_Shift_Del_p.K62fs|A1CF_ENST00000374001.1_Frame_Shift_Del_p.K62fs|A1CF_ENST00000395495.1_Frame_Shift_Del_p.K62fs|A1CF_ENST00000282641.2_Frame_Shift_Del_p.K62fs|A1CF_ENST00000373997.3_Frame_Shift_Del_p.K62fs	p.K55fs	NM_001198819.1	NP_001185748.1	Q9NQ94	A1CF_HUMAN			6	561	-			62					A1L4F2|A8K7G7|B7ZM14|Q5SZQ0|Q9NQ93|Q9NQX8|Q9NQX9|Q9NXC9|Q9NZD3	Frame_Shift_Del	DEL	ENST00000373993.1	37	c.165delA	CCDS7242.1																																																																																				0.403	A1CF-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048086.2	NM_014576		36	82						36	82	---	---	---	---	-	52603796	T	-	52603796	7	5	202	1	0	1	0	1	0	0	0	0	2	1722	60	0	1638	0	A1CF	10	52603796	Frame_Shift_Del	DEL	T	TCGA-HC-7210-01A-11D-2114-08	52195291	52603796	82930951	27	9324											
C10orf137	26098	broad.mit.edu	37	chr10	127441484	127441484	+	Splice_Site	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ttatagaagaatttggccagGtacatggagaaaatgactgt	15	11	11	4	0	0	4	0	1	0	3	0	5	0	4	1	3	1	1	1	3	7	4			TCGA-HC-7210-01A-11D-2114-08	TCGA-HC-7210-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed251d-bf15-4ec0-af02-0dc5e856907e	d1e9fad6-a37e-4dd5-8011-6cff3fa8fd57	g.chr10:127441484G>C	ENST00000356792.4	+	23	3625		c.e23+1		RP11-383C5.7_ENST00000602030.1_RNA|RP11-383C5.7_ENST00000600784.1_RNA|RP11-383C5.7_ENST00000593871.1_RNA|C10orf137_ENST00000337623.3_Splice_Site|RP11-383C5.7_ENST00000601363.1_RNA|RP11-383C5.7_ENST00000594025.1_RNA|RP11-383C5.7_ENST00000449436.1_RNA	NM_001202438.1	NP_001189367.1	Q3B7T1	EDRF1_HUMAN							regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(20)|ovary(8)|pancreas(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	61		all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936)				ATTTGGCCAGGTACATGGAGA	0.403																																						ENST00000337623.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(20)|ovary(8)|pancreas(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	61						c.e22+1		chromosome 10 open reading frame 137							137	133	134					10																	127441484		2203	4300	6503	SO:0001630	splice_region_variant	26098				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	binding	g.chr10:127441484G>C																												ENST00000356792.4:c.3393+1G>C	10.37:g.127441484G>C						C10orf137_ENST00000356792.4_Splice_Site		NM_015608.2	NP_056423.2	Q3B7T1	EDRF1_HUMAN			22	3396	+		all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936)						B2RC65|Q3KR40|Q4G190|Q5VZQ4|Q8IZ74|Q9Y3W4	Splice_Site	SNP	ENST00000356792.4	37		CCDS55733.1	.	.	.	.	.	.	.	.	.	.	G	11.45	1.643297	0.29246	.	.	ENSG00000107938	ENST00000356792;ENST00000337623	.	.	.	5.63	5.63	0.86233	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.6741	0.95924	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	C10orf137	127431474	1.000000	0.71417	0.965000	0.40720	0.083000	0.17756	6.836000	0.75349	2.664000	0.90586	0.650000	0.86243	.		0.403	C10orf137-007	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388539.1		Intron	29	47	0	0	0	1	0	29	47					C	127441484	G	C	127441484	5	2	202	1	0	0	0	0	0	0	1	0	1594	1275	44	5	3378	5	C10orf137	10	127441484	Splice_Site	SNP	G	TCGA-HC-7210-01A-11D-2114-08	74837688	127441484	8093263	28	9325											
KNDC1	85442	broad.mit.edu	37	chr10	135015083	135015083	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtgtcggatgtggactcggAcgcactgtcacggggaaact	8	8	16	9	4	1	0	1	0	0	0	3	4	1	4	0	6	1	1	0	6	1	0			TCGA-HC-7210-01A-11D-2114-08	TCGA-HC-7210-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed251d-bf15-4ec0-af02-0dc5e856907e	d1e9fad6-a37e-4dd5-8011-6cff3fa8fd57	g.chr10:135015083A>G	ENST00000304613.3	+	17	3089	c.3068A>G	c.(3067-3069)gAc>gGc	p.D1023G	KNDC1_ENST00000368572.2_Missense_Mutation_p.D1025G|KNDC1_ENST00000368571.2_Missense_Mutation_p.D958G			Q76NI1	VKIND_HUMAN	kinase non-catalytic C-lobe domain (KIND) containing 1	1023					cerebellar granule cell differentiation (GO:0021707)|positive regulation of protein phosphorylation (GO:0001934)|regulation of dendrite morphogenesis (GO:0048814)|small GTPase mediated signal transduction (GO:0007264)	dendrite (GO:0030425)|guanyl-nucleotide exchange factor complex (GO:0032045)|neuronal cell body (GO:0043025)	protein serine/threonine kinase activity (GO:0004674)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)			NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	60		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)		GTGGACTCGGACGCACTGTCA	0.622																																						ENST00000304613.3																			0				NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	60						c.(3067-3069)gAc>gGc		kinase non-catalytic C-lobe domain (KIND) containing 1							58	67	64					10																	135015083		2203	4300	6503	SO:0001583	missense	85442				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction			g.chr10:135015083A>G	AK074179	CCDS7674.1	10q26.3	2004-09-14	2004-04-07		ENSG00000171798	ENSG00000171798			29374	protein-coding gene	gene with protein product			"RasGEF domain family, member 2"	RASGEF2, C10orf23		11214970	Standard	NM_152643		Approved	KIAA1768, bB439H18.3, FLJ25027	uc001llz.1	Q76NI1	OTTHUMG00000019303	ENST00000304613.3:c.3068A>G	10.37:g.135015083A>G	ENSP00000304437:p.Asp1023Gly					KNDC1_ENST00000368571.2_Missense_Mutation_p.D958G|KNDC1_ENST00000368572.2_Missense_Mutation_p.D1025G	p.D1023G			Q76NI1	VKIND_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)	17	3089	+		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)	1023					B0QZC5|Q5T233|Q6ZNH8|Q8TEE5|Q96LV7|Q9C095	Missense_Mutation	SNP	ENST00000304613.3	37	c.3068A>G	CCDS7674.1	.	.	.	.	.	.	.	.	.	.	A	14.76	2.631932	0.46944	.	.	ENSG00000171798	ENST00000304613;ENST00000368572;ENST00000368571	T;T;T	0.11385	2.78;2.78;2.78	4.76	2.34	0.29019	.	0.871297	0.09870	N	0.745097	T	0.10380	0.0254	L	0.60455	1.87	0.09310	N	1	P;B;B	0.46220	0.874;0.006;0.026	B;B;B	0.40477	0.33;0.008;0.018	T	0.30060	-0.9991	10	0.45353	T	0.12	-7.9392	1.4676	0.02409	0.5401:0.1846:0.0978:0.1776	.	1023;958;1023	Q76NI1-4;Q76NI1-2;Q76NI1	.;.;VKIND_HUMAN	G	1023;1025;958	ENSP00000304437:D1023G;ENSP00000357561:D1025G;ENSP00000357560:D958G	ENSP00000304437:D1023G	D	+	2	0	KNDC1	134865073	0.000000	0.05858	0.009000	0.14445	0.005000	0.04900	0.308000	0.19314	0.749000	0.32854	0.260000	0.18958	GAC		0.622	KNDC1-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000277044.3	NM_152643		16	74	0	0	0	1	0	16	74					G	135015083	A	G	135015083	3	3	202	1	0	0	0	0	1	0	0	0	8426	275	10	4	3134	4	KNDC1	10	135015083	Missense_Mutation	SNP	A	TCGA-HC-7210-01A-11D-2114-08	7573599	135015083	519664	29	9326											
ARID2	196528	broad.mit.edu	37	chr12	46245168	46245168	+	Frame_Shift_Del	DEL	A	A	-																															ctccacagattcctccccctAataatgcaagagctcctagc																										TCGA-HC-7210-01A-11D-2114-08	TCGA-HC-7210-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed251d-bf15-4ec0-af02-0dc5e856907e	d1e9fad6-a37e-4dd5-8011-6cff3fa8fd57	g.chr12:46245168delA	ENST00000334344.6	+	15	3434	c.3262delA	c.(3262-3264)aatfs	p.N1089fs	ARID2_ENST00000479608.1_3'UTR|ARID2_ENST00000457135.1_5'Flank|ARID2_ENST00000444670.1_Frame_Shift_Del_p.N699fs|ARID2_ENST00000422737.1_Frame_Shift_Del_p.N940fs	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	1089	Gln-rich.				chromatin modification (GO:0016568)|nucleosome disassembly (GO:0006337)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		TCCTCCCCCTAATAATGCAAG	0.522			"N, S, F"		hepatocellular carcinoma																																	ENST00000334344.6				Rec	yes		12	12q12	196528	"N, S, F"	AT rich interactive domain 2			E			hepatocellular carcinoma		0				NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116						c.(3262-3264)atfs		AT rich interactive domain 2 (ARID, RFX-like)							84	82	82					12																	46245168		2203	4299	6502	SO:0001589	frameshift_variant	196528				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr12:46245168delA		CCDS31783.1	12q13.11	2013-02-07			ENSG00000189079	ENSG00000189079		"-"	18037	protein-coding gene	gene with protein product		609539					Standard	NM_152641		Approved	KIAA1557, DKFZp686G052, FLJ30619, BAF200	uc001ros.1	Q68CP9	OTTHUMG00000150487	ENST00000334344.6:c.3262delA	12.37:g.46245168delA	ENSP00000335044:p.Asn1089fs					ARID2_ENST00000479608.1_3'UTR|ARID2_ENST00000422737.1_Frame_Shift_Del_p.N940fs|ARID2_ENST00000444670.1_Frame_Shift_Del_p.N699fs	p.N1089fs	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)	15	3434	+	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	1089			Gln-rich.		Q15KG9|Q5EB51|Q645I3|Q6ZRY5|Q7Z3I5|Q86T28|Q96SJ6|Q9HCL5	Frame_Shift_Del	DEL	ENST00000334344.6	37	c.3262delA	CCDS31783.1																																																																																				0.522	ARID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318380.2	XM_350875		30	111						30	111	---	---	---	---	-	46245168	A	-	46245168	7	5	202	1	0	1	0	1	0	0	0	0	915	362	13	0	3320	0	ARID2	12	46245168	Frame_Shift_Del	DEL	A	TCGA-HC-7210-01A-11D-2114-08		46245168	87606727	30	9327											
KRT6C	286887	broad.mit.edu	37	chr12	52863587	52863587	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ggccttctgcagggcatcctCcagcccttccagcttgttct	4	12	9	16	0	2	0	0	0	2	0	5	0	5	0	5	2	3	4	5	2	0	4			TCGA-HC-7210-01A-11D-2114-08	TCGA-HC-7210-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed251d-bf15-4ec0-af02-0dc5e856907e	d1e9fad6-a37e-4dd5-8011-6cff3fa8fd57	g.chr12:52863587C>T	ENST00000252250.6	-	7	1338	c.1291G>A	c.(1291-1293)Gag>Aag	p.E431K		NM_173086.4	NP_775109.2	P48668	K2C6C_HUMAN	keratin 6C	431	Coil 2.|Rod.				intermediate filament cytoskeleton organization (GO:0045104)	extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|prostate(2)|skin(2)	23				BRCA - Breast invasive adenocarcinoma(357;0.0828)		AGGGCATCCTCCAGCCCTTCC	0.597																																						ENST00000252250.6																			0				cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|prostate(2)|skin(2)	23						c.(1291-1293)Gag>Aag		keratin 6C							79	62	68					12																	52863587		2203	4293	6496	SO:0001583	missense	286887				cytoskeleton organization	keratin filament	structural molecule activity	g.chr12:52863587C>T	L42611	CCDS8829.1	12q13.13	2013-01-16	2006-07-17	2006-07-17	ENSG00000170465	ENSG00000170465		"-", "Intermediate filaments type II, keratins (basic)"	20406	protein-coding gene	gene with protein product		612315	"keratin 6E"	KRT6E		7543104, 16831889	Standard	NM_173086		Approved		uc001sal.4	P48668	OTTHUMG00000169596	ENST00000252250.6:c.1291G>A	12.37:g.52863587C>T	ENSP00000252250:p.Glu431Lys						p.E431K	NM_173086.4	NP_775109.2	P48668	K2C6C_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.0828)	7	1338	-			431			Coil 2.|Rod.		A1L4L5|P48666|Q2TAZ9|Q7RTN9	Missense_Mutation	SNP	ENST00000252250.6	37	c.1291G>A	CCDS8829.1	.	.	.	.	.	.	.	.	.	.	C	31	5.071524	0.93950	.	.	ENSG00000170465	ENST00000252250;ENST00000411979	D	0.92099	-2.97	3.77	3.77	0.43336	Filament (1);	0.000000	0.64402	D	0.000014	D	0.94722	0.8297	M	0.91406	3.205	0.54753	D	0.999984	P	0.35600	0.511	B	0.42882	0.401	D	0.96132	0.9093	10	0.66056	D	0.02	.	16.1348	0.81476	0.0:1.0:0.0:0.0	.	431	P48668	K2C6C_HUMAN	K	431;416	ENSP00000252250:E431K	ENSP00000252250:E431K	E	-	1	0	KRT6C	51149854	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	7.380000	0.79704	2.090000	0.63153	0.448000	0.29417	GAG		0.597	KRT6C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404976.1	NM_173086		18	66	0	0	0	1	0	18	66					T	52863587	C	T	52863587	3	4	202	1	0	0	0	0	1	0	0	0	8482	864	30	3	415	3	KRT6C	12	52863587	Missense_Mutation	SNP	C	TCGA-HC-7210-01A-11D-2114-08	6618419	52863587	80988308	31	9328											
HNRNPC	3183	broad.mit.edu	37	chr14	21679710	21679710	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgctcctcttctgacttaTcattcttcatctctactgcg	5	18	4	14	1	7	1	2	1	5	0	9	1	8	1	1	0	3	1	1	0	2	5	rs200789242	byFrequency	TCGA-HC-7210-01A-11D-2114-08	TCGA-HC-7210-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed251d-bf15-4ec0-af02-0dc5e856907e	d1e9fad6-a37e-4dd5-8011-6cff3fa8fd57	g.chr14:21679710T>C	ENST00000320084.7	-	7	931	c.692A>G	c.(691-693)gAt>gGt	p.D231G	HNRNPC_ENST00000553300.1_Missense_Mutation_p.D218G|HNRNPC_ENST00000555309.1_Missense_Mutation_p.D230G|HNRNPC_ENST00000449098.1_Missense_Mutation_p.D218G|HNRNPC_ENST00000555914.1_Missense_Mutation_p.D217G|HNRNPC_ENST00000556513.1_Intron|HNRNPC_ENST00000557201.1_Missense_Mutation_p.D231G|HNRNPC_ENST00000556897.1_Missense_Mutation_p.D218G|HNRNPC_ENST00000556142.1_Intron|HNRNPC_ENST00000554455.1_Missense_Mutation_p.D231G|HNRNPC_ENST00000555883.1_Missense_Mutation_p.D175G|HNRNPC_ENST00000336053.6_Missense_Mutation_p.D218G|HNRNPC_ENST00000420743.2_Missense_Mutation_p.D231G|HNRNPC_ENST00000553753.1_Missense_Mutation_p.D218G|HNRNPC_ENST00000554969.1_Missense_Mutation_p.D218G|HNRNPC_ENST00000430246.2_Missense_Mutation_p.D218G|HNRNPC_ENST00000556628.1_Missense_Mutation_p.D151G	NM_001077442.1	NP_001070910.1	P07910	HNRPC_HUMAN	heterogeneous nuclear ribonucleoprotein C (C1/C2)	231	Asp/Glu-rich (acidic).				3'-UTR-mediated mRNA stabilization (GO:0070935)|ATP-dependent chromatin remodeling (GO:0043044)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|osteoblast differentiation (GO:0001649)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)|spliceosomal complex (GO:0005681)	identical protein binding (GO:0042802)|mRNA 3'-UTR binding (GO:0003730)|nucleosomal DNA binding (GO:0031492)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|poly(U) RNA binding (GO:0008266)|RNA binding (GO:0003723)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)			breast(1)|liver(1)|lung(6)|skin(1)	9	all_cancers(95;0.00176)		Epithelial(56;1.08e-06)|all cancers(55;8.95e-06)	GBM - Glioblastoma multiforme(265;0.00783)		TTCTGACTTATCATTCTTCAT	0.507																																					NSCLC(108;607 2244 12726 38757)	ENST00000430246.2																			0				breast(1)|liver(1)|lung(6)|skin(1)	9						c.(652-654)gAt>gGt		heterogeneous nuclear ribonucleoprotein C (C1/C2)							23	22	22					14																	21679710		2196	4289	6485	SO:0001583	missense	3183					catalytic step 2 spliceosome|nucleoplasm	identical protein binding|nucleotide binding|RNA binding	g.chr14:21679710T>C		CCDS41915.1, CCDS45079.1	14q11.2	2013-06-12		2007-08-16	ENSG00000092199	ENSG00000092199		"RNA binding motif (RRM) containing"	5035	protein-coding gene	gene with protein product		164020		HNRPC		3457372	Standard	NM_031314		Approved	hnRNPC	uc001waa.3	P07910	OTTHUMG00000170757	ENST00000320084.7:c.692A>G	14.37:g.21679710T>C	ENSP00000319690:p.Asp231Gly					HNRNPC_ENST00000555309.1_Missense_Mutation_p.D230G|HNRNPC_ENST00000554969.1_Missense_Mutation_p.D218G|HNRNPC_ENST00000557201.1_Missense_Mutation_p.D231G|HNRNPC_ENST00000320084.7_Missense_Mutation_p.D231G|HNRNPC_ENST00000556897.1_Missense_Mutation_p.D218G|HNRNPC_ENST00000553753.1_Missense_Mutation_p.D218G|HNRNPC_ENST00000556628.1_Missense_Mutation_p.D151G|HNRNPC_ENST00000554455.1_Missense_Mutation_p.D231G|HNRNPC_ENST00000556513.1_Intron|HNRNPC_ENST00000556142.1_Intron|HNRNPC_ENST00000449098.1_Missense_Mutation_p.D218G|HNRNPC_ENST00000555883.1_Missense_Mutation_p.D175G|HNRNPC_ENST00000555914.1_Missense_Mutation_p.D217G|HNRNPC_ENST00000336053.6_Missense_Mutation_p.D218G|HNRNPC_ENST00000553300.1_Missense_Mutation_p.D218G|HNRNPC_ENST00000420743.2_Missense_Mutation_p.D231G	p.D218G			P07910	HNRPC_HUMAN	Epithelial(56;1.08e-06)|all cancers(55;8.95e-06)	GBM - Glioblastoma multiforme(265;0.00783)	7	3604	-	all_cancers(95;0.00176)		231			Asp/Glu-rich (acidic).		D3DS19|D3DS22|P22628|Q53EX2|Q59FD3|Q5FWE8|Q86SF8|Q86U45|Q96HK7|Q96HM4|Q96IY5|Q9BTS3	Missense_Mutation	SNP	ENST00000320084.7	37	c.653A>G	CCDS41915.1	.	.	.	.	.	.	.	.	.	.	T	2.789	-0.251839	0.05829	.	.	ENSG00000092199	ENST00000336053;ENST00000320084;ENST00000449098;ENST00000554969;ENST00000554455;ENST00000430246;ENST00000553753;ENST00000555914;ENST00000555309;ENST00000556628;ENST00000555883;ENST00000557201;ENST00000553300;ENST00000216296;ENST00000556897;ENST00000420743;ENST00000557157;ENST00000445284;ENST00000554539;ENST00000554383	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.14893	2.87;3.04;2.89;2.89;3.04;2.89;2.87;2.92;3.09;2.47;2.67;3.04;2.89;2.89;3.04;2.7;2.47;2.89	5.88	5.88	0.94601	.	1.053100	0.07727	U	0.944587	T	0.15955	0.0384	L	0.31926	0.97	0.31154	N	0.705174	B;B;B;B;B;B;B	0.09022	0.002;0.0;0.001;0.0;0.0;0.0;0.0	B;B;B;B;B;B;B	0.08055	0.002;0.001;0.003;0.0;0.001;0.0;0.001	T	0.09885	-1.0654	10	0.30854	T	0.27	.	10.4976	0.44788	0.1449:0.0:0.0:0.8551	.	126;218;151;175;217;231;218	B4DQQ2;B4DY08;P07910-3;P07910-4;G3V4C1;P07910;P07910-2	.;.;.;.;.;HNRPC_HUMAN;.	G	218;231;218;218;231;218;218;217;230;151;175;231;218;126;218;231;139;231;115;218	ENSP00000338095:D218G;ENSP00000319690:D231G;ENSP00000404559:D218G;ENSP00000450725:D218G;ENSP00000451291:D231G;ENSP00000442816:D218G;ENSP00000450548:D218G;ENSP00000451708:D217G;ENSP00000450790:D230G;ENSP00000451652:D151G;ENSP00000450629:D175G;ENSP00000452276:D231G;ENSP00000450544:D218G;ENSP00000451176:D218G;ENSP00000404848:D231G;ENSP00000450601:D139G;ENSP00000452545:D115G;ENSP00000452021:D218G	ENSP00000216296:D126G	D	-	2	0	HNRNPC	20749550	1.000000	0.71417	0.996000	0.52242	0.627000	0.37826	2.880000	0.48530	2.243000	0.73865	0.533000	0.62120	GAT		0.507	HNRNPC-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000410235.1			7	6	0	0	0	1	0	7	6					C	21679710	T	C	21679710	3	2	202	1	0	0	0	0	1	0	0	0	7262	1435	50	4	236	4	HNRNPC	14	21679710	Missense_Mutation	SNP	T	TCGA-HC-7210-01A-11D-2114-08		21679710	85669830	32	9329											
FOXA1	3169	broad.mit.edu	37	chr14	38061220	38061228	+	In_Frame_Del	DEL	CGTTCTCGA	CGTTCTCGA	-																															ctggcggcgcaagtagcagcCgttctcgaacatgttgccgg																										TCGA-HC-7210-01A-11D-2114-08	TCGA-HC-7210-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed251d-bf15-4ec0-af02-0dc5e856907e	d1e9fad6-a37e-4dd5-8011-6cff3fa8fd57	g.chr14:38061220_38061228delCGTTCTCGA	ENST00000250448.2	-	2	822_830	c.761_769delTCGAGAACG	c.(760-771)ttcgagaacggc>tgc	p.254_257FENG>C	FOXA1_ENST00000540786.1_In_Frame_Del_p.221_224FENG>C|FOXA1_ENST00000545425.2_5'UTR	NM_004496.3	NP_004487.2	P55317	FOXA1_HUMAN	forkhead box A1	254					anatomical structure formation involved in morphogenesis (GO:0048646)|chromatin remodeling (GO:0006338)|dorsal/ventral neural tube patterning (GO:0021904)|epithelial cell maturation involved in prostate gland development (GO:0060743)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|epithelial-mesenchymal signaling involved in prostate gland development (GO:0060738)|glucose homeostasis (GO:0042593)|hormone metabolic process (GO:0042445)|lung epithelial cell differentiation (GO:0060487)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron fate specification (GO:0048665)|positive regulation of cell-cell adhesion mediated by cadherin (GO:2000049)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prostate gland epithelium morphogenesis (GO:0060740)|prostate gland stromal morphogenesis (GO:0060741)|response to estradiol (GO:0032355)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)	microvillus (GO:0005902)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|endometrium(1)|large_intestine(2)|lung(3)|prostate(12)	19	Breast(36;0.0954)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		Lung(238;5.41e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0454)|LUSC - Lung squamous cell carcinoma(13;0.0917)|all cancers(34;0.0925)|BRCA - Breast invasive adenocarcinoma(188;0.239)	GBM - Glioblastoma multiforme(112;0.0222)		AAGTAGCAGCCGTTCTCGAACATGTTGCC	0.694																																						ENST00000250448.2																			0				breast(1)|endometrium(1)|large_intestine(2)|lung(3)|prostate(12)	19						c.(760-771)tgc>t		forkhead box A1																																				SO:0001651	inframe_deletion	3169				chromatin remodeling|embryo development|epithelial cell maturation involved in prostate gland development|epithelial tube branching involved in lung morphogenesis|epithelial-mesenchymal signaling involved in prostate gland development|glucose homeostasis|lung epithelial cell differentiation|negative regulation of survival gene product expression|neuron fate specification|pattern specification process|positive regulation of estrogen receptor signaling pathway|positive regulation of mitotic cell cycle|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|prostate gland epithelium morphogenesis|prostate gland stromal morphogenesis|response to estradiol stimulus|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development	transcription factor complex	DNA bending activity|double-stranded DNA binding|protein domain specific binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding	g.chr14:38061220_38061228delCGTTCTCGA	U39840	CCDS9665.1	14q12-q13	2008-04-10		2002-09-20	ENSG00000129514	ENSG00000129514		"Forkhead boxes"	5021	protein-coding gene	gene with protein product		602294	"hepatocyte nuclear factor 3, alpha"	HNF3A		9119385, 8652662	Standard	NM_004496		Approved		uc001wuf.4	P55317	OTTHUMG00000140253	ENST00000250448.2:c.761_769delTCGAGAACG	14.37:g.38061220_38061228delCGTTCTCGA	ENSP00000250448:p.Phe254_Gly257delinsCys					FOXA1_ENST00000540786.1_In_Frame_Del_p.FENG221del|FOXA1_ENST00000545425.2_5'UTR	p.FENG254del	NM_004496.3	NP_004487.2	P55317	FOXA1_HUMAN	Lung(238;5.41e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0454)|LUSC - Lung squamous cell carcinoma(13;0.0917)|all cancers(34;0.0925)|BRCA - Breast invasive adenocarcinoma(188;0.239)	GBM - Glioblastoma multiforme(112;0.0222)	2	822_830	-	Breast(36;0.0954)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		254					B2R9H6|B7ZAP5|Q9H2A0	In_Frame_Del	DEL	ENST00000250448.2	37	c.761_769delTCGAGAACG	CCDS9665.1																																																																																				0.694	FOXA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276735.1			7	18						7	18	---	---	---	---	-	38061228	CGTTCTCGA	-	38061220	7	5	202	1	0	1	0	1	0	0	0	0	5989	652	23	0	653	0	FOXA1	14	38061220	In_Frame_Del	DEL	CGTTCTCGA	TCGA-HC-7210-01A-11D-2114-08	16381510	38061220	69288320	33	9330											
AHNAK2	113146	broad.mit.edu	37	chr14	105416337	105416337	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgaacttgctgtctttggcAgtcacatccttgtcggccag	6	14	10	11	1	2	1	1	1	1	0	4	1	3	1	2	2	2	2	2	2	1	4	rs371400548	byFrequency	TCGA-HC-7210-01A-11D-2114-08	TCGA-HC-7210-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed251d-bf15-4ec0-af02-0dc5e856907e	d1e9fad6-a37e-4dd5-8011-6cff3fa8fd57	g.chr14:105416337A>C	ENST00000333244.5	-	7	5570	c.5451T>G	c.(5449-5451)acT>acG	p.T1817T	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	1817						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			TGTCTTTGGCAGTCACATCCT	0.612																																						ENST00000333244.5																			0				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33						c.(5449-5451)acT>acG		AHNAK nucleoprotein 2							164	200	188					14																	105416337		1953	4113	6066	SO:0001819	synonymous_variant	113146					nucleus		g.chr14:105416337A>C	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"chromosome 14 open reading frame 78"	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.5451T>G	14.37:g.105416337A>C						AHNAK2_ENST00000557457.1_Intron	p.T1817T	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)		7	5570	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	1817					Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Silent	SNP	ENST00000333244.5	37	c.5451T>G	CCDS45177.1																																																																																				0.612	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		7	6	0	0	0	1	0	7	6					C	105416337	A	C	105416337	2	2	202	1	0	0	0	0	0	0	0	1	415	175	7	5		5	AHNAK2	14	105416337	Silent	SNP	A	TCGA-HC-7210-01A-11D-2114-08	67355117	105416337	1933203	34	9331											
RYR3	6263	broad.mit.edu	37	chr15	34137219	34137219	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtgccctggccatcatccatAccatcatctctctagtctgt	7	13	6	15	0	5	0	2	0	3	0	7	0	6	0	4	1	2	0	4	1	2	2			TCGA-HC-7210-01A-11D-2114-08	TCGA-HC-7210-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed251d-bf15-4ec0-af02-0dc5e856907e	d1e9fad6-a37e-4dd5-8011-6cff3fa8fd57	g.chr15:34137219A>G	ENST00000389232.4	+	93	13523	c.13453A>G	c.(13453-13455)Acc>Gcc	p.T4485A	RYR3_ENST00000415757.3_Missense_Mutation_p.T4480A	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	4485					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		CATCATCCATACCATCATCTC	0.498																																						ENST00000389232.4																			0				NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311						c.(13453-13455)Acc>Gcc		ryanodine receptor 3							140	140	140					15																	34137219		2056	4205	6261	SO:0001583	missense	6263				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr15:34137219A>G		CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"Ion channels / Ryanodine receptors", "EF-hand domain containing"	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.13453A>G	15.37:g.34137219A>G	ENSP00000373884:p.Thr4485Ala					RYR3_ENST00000415757.3_Missense_Mutation_p.T4480A	p.T4485A	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)	93	13523	+		all_lung(180;7.18e-09)	4485					O15175|Q15412	Missense_Mutation	SNP	ENST00000389232.4	37	c.13453A>G	CCDS45210.1	.	.	.	.	.	.	.	.	.	.	A	15.28	2.788068	0.49997	.	.	ENSG00000198838	ENST00000389232;ENST00000361728	D	0.94723	-3.5	5.24	5.24	0.73138	Ryanodine Receptor TM 4-6 (1);	0.000000	0.85682	D	0.000000	D	0.95881	0.8659	M	0.64080	1.96	0.58432	D	0.999995	B;P	0.44946	0.3;0.846	B;P	0.57244	0.107;0.816	D	0.95310	0.8411	10	0.41790	T	0.15	.	15.5966	0.76587	1.0:0.0:0.0:0.0	.	4480;4485	Q15413-2;Q15413	.;RYR3_HUMAN	A	4485;4481	ENSP00000373884:T4485A	ENSP00000354735:T4481A	T	+	1	0	RYR3	31924511	1.000000	0.71417	0.994000	0.49952	0.251000	0.25915	9.029000	0.93718	2.326000	0.78906	0.533000	0.62120	ACC		0.498	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1			13	66	0	0	0	1	0	13	66					G	34137219	A	G	34137219	3	3	202	1	0	0	0	0	1	0	0	0	13770	391	14	4	13823	4	RYR3	15	34137219	Missense_Mutation	SNP	A	TCGA-HC-7210-01A-11D-2114-08		34137219	68394173	35	9332											
BBS4	585	broad.mit.edu	37	chr15	73029880	73029880	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctctggagccagagcctgcGgtggaatcaagtccaactga	10	7	12	12	1	2	2	1	1	1	1	3	4	3	4	4	3	4	0	4	3	3	0	rs369958857		TCGA-HC-7210-01A-11D-2114-08	TCGA-HC-7210-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed251d-bf15-4ec0-af02-0dc5e856907e	d1e9fad6-a37e-4dd5-8011-6cff3fa8fd57	g.chr15:73029880G>A	ENST00000268057.4	+	16	1553	c.1512G>A	c.(1510-1512)gcG>gcA	p.A504A	BBS4_ENST00000542334.1_Silent_p.A332A|BBS4_ENST00000395205.2_Silent_p.A512A|BBS4_ENST00000539603.1_Silent_p.A492A	NM_033028.4	NP_149017.2	Q96RK4	BBS4_HUMAN	Bardet-Biedl syndrome 4	504	Required for localization to centrosomes.				adult behavior (GO:0030534)|brain morphogenesis (GO:0048854)|centrosome organization (GO:0051297)|cerebral cortex development (GO:0021987)|cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|convergent extension involved in gastrulation (GO:0060027)|dendrite development (GO:0016358)|fat cell differentiation (GO:0045444)|heart looping (GO:0001947)|hippocampus development (GO:0021766)|intracellular transport (GO:0046907)|maintenance of protein location in nucleus (GO:0051457)|melanosome transport (GO:0032402)|metabolic process (GO:0008152)|microtubule anchoring at centrosome (GO:0034454)|microtubule cytoskeleton organization (GO:0000226)|mitotic cytokinesis (GO:0000281)|negative regulation of appetite by leptin-mediated signaling pathway (GO:0038108)|negative regulation of gene expression (GO:0010629)|negative regulation of systemic arterial blood pressure (GO:0003085)|neural tube closure (GO:0001843)|nonmotile primary cilium assembly (GO:0035058)|photoreceptor cell maintenance (GO:0045494)|pigment granule aggregation in cell center (GO:0051877)|positive regulation of cilium assembly (GO:0045724)|positive regulation of multicellular organism growth (GO:0040018)|protein localization to centrosome (GO:0071539)|protein localization to organelle (GO:0033365)|protein transport (GO:0015031)|regulation of cilium beat frequency involved in ciliary motility (GO:0060296)|regulation of cytokinesis (GO:0032465)|regulation of lipid metabolic process (GO:0019216)|retina homeostasis (GO:0001895)|retinal rod cell development (GO:0046548)|sensory perception of smell (GO:0007608)|sensory processing (GO:0050893)|spermatid development (GO:0007286)|striatum development (GO:0021756)|visual perception (GO:0007601)	BBSome (GO:0034464)|centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|ciliary membrane (GO:0060170)|cilium (GO:0005929)|motile cilium (GO:0031514)|nonmotile primary cilium (GO:0031513)|pericentriolar material (GO:0000242)	alpha-tubulin binding (GO:0043014)|beta-tubulin binding (GO:0048487)|dynactin binding (GO:0034452)|microtubule motor activity (GO:0003777)|RNA polymerase II repressing transcription factor binding (GO:0001103)			autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|prostate(2)|urinary_tract(1)	19						CAGAGCCTGCGGTGGAATCAA	0.443									Bardet-Biedl syndrome																													ENST00000268057.4																			0				autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|prostate(2)|urinary_tract(1)	19						c.(1510-1512)gcG>gcA		Bardet-Biedl syndrome 4		G		1,4395	2.1+/-5.4	0,1,2197	48	47	47		1512	-7.6	0	15		47	0,8594		0,0,4297	no	coding-synonymous	BBS4	NM_033028.3		0,1,6494	AA,AG,GG		0.0,0.0227,0.0077		504/520	73029880	1,12989	2198	4297	6495	SO:0001819	synonymous_variant	585	Bardet-Biedl syndrome	Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome	adult behavior|brain morphogenesis|cell cycle cytokinesis|centrosome organization|cerebral cortex development|convergent extension involved in gastrulation|dendrite development|fat cell differentiation|heart looping|hippocampus development|intracellular transport|maintenance of protein location in nucleus|melanosome transport|microtubule anchoring at centrosome|neural tube closure|nonmotile primary cilium assembly|photoreceptor cell maintenance|pigment granule aggregation in cell center|positive regulation of flagellum assembly|regulation of cilium beat frequency involved in ciliary motility|regulation of cytokinesis|regulation of lipid metabolic process|retina homeostasis|retinal rod cell development|sensory perception of smell|sensory processing|spermatid development|striatum development	BBSome|centriolar satellite|centriole|cilium membrane|microtubule basal body|motile cilium|nonmotile primary cilium|nucleus|pericentriolar material	alpha-tubulin binding|beta-tubulin binding|dynactin binding|microtubule motor activity	g.chr15:73029880G>A	AF090947	CCDS10246.1, CCDS58377.1	15q22.3-q23	2013-01-10			ENSG00000140463	ENSG00000140463		"Tetratricopeptide (TTC) repeat domain containing"	969	protein-coding gene	gene with protein product		600374				7711739, 11381270	Standard	NM_033028		Approved		uc002avb.3	Q96RK4	OTTHUMG00000133510	ENST00000268057.4:c.1512G>A	15.37:g.73029880G>A						BBS4_ENST00000395205.2_Silent_p.A512A|BBS4_ENST00000539603.1_Silent_p.A492A|BBS4_ENST00000542334.1_Silent_p.A332A	p.A504A	NM_033028.4	NP_149017.2	Q96RK4	BBS4_HUMAN			16	1553	+			504			Required for localization to centrosomes.		B4E178|Q53DZ5|Q8NHU9|Q96H45	Silent	SNP	ENST00000268057.4	37	c.1512G>A	CCDS10246.1																																																																																				0.443	BBS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257473.2	NM_033028		5	15	0	0	0	1	0	5	15					A	73029880	G	A	73029880	2	1	202	1	0	0	0	0	0	0	0	1	1339	1103	39	2		2	BBS4	15	73029880	Silent	SNP	G	TCGA-HC-7210-01A-11D-2114-08	38892661	73029880	29501512	36	9333											
ITFG3	83986	broad.mit.edu	37	chr16	314964	314964	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgggtgagggtgggccagaCagtgaccaagccatcaggga	10	5	17	9	0	1	3	1	2	0	1	1	4	1	4	3	4	1	0	3	4	1	0			TCGA-HC-7210-01A-11D-2114-08	TCGA-HC-7210-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed251d-bf15-4ec0-af02-0dc5e856907e	d1e9fad6-a37e-4dd5-8011-6cff3fa8fd57	g.chr16:314964C>T	ENST00000399932.3	+	13	2053	c.1602C>T	c.(1600-1602)gaC>gaT	p.D534D	ITFG3_ENST00000450082.2_Intron|ITFG3_ENST00000301679.2_Intron|ITFG3_ENST00000442458.2_Intron|ITFG3_ENST00000600536.1_Intron|ITFG3_ENST00000301678.3_Silent_p.D534D	NM_001284497.1	NP_001271426.1	Q9H0X4	ITFG3_HUMAN	integrin alpha FG-GAP repeat containing 3	534						cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				central_nervous_system(3)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	16		all_cancers(16;0.000129)|all_epithelial(16;0.000206)|Hepatocellular(16;0.00264)|Lung NSC(18;0.0626)|all_lung(18;0.13)				GTGGGCCAGACAGTGACCAAG	0.652																																						ENST00000399932.3																			0				central_nervous_system(3)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	16						c.(1600-1602)gaC>gaT		integrin alpha FG-GAP repeat containing 3							44	55	51					16																	314964		2130	4226	6356	SO:0001819	synonymous_variant	83986					integral to membrane		g.chr16:314964C>T	AL136542	CCDS10402.1	16p13.3	2006-03-31	2006-03-31	2006-03-31	ENSG00000167930	ENSG00000167930			14163	protein-coding gene	gene with protein product			"chromosome 16 open reading frame 9"	C16orf9			Standard	XM_005255622		Approved	DKFZP761D0211, FLJ32603	uc002cgf.3	Q9H0X4	OTTHUMG00000060728	ENST00000399932.3:c.1602C>T	16.37:g.314964C>T						ITFG3_ENST00000600536.1_Intron|ITFG3_ENST00000301678.3_Silent_p.D534D|ITFG3_ENST00000450082.2_Intron|ITFG3_ENST00000442458.2_Intron|ITFG3_ENST00000301679.2_Intron	p.D534D			Q9H0X4	ITFG3_HUMAN			13	2053	+		all_cancers(16;0.000129)|all_epithelial(16;0.000206)|Hepatocellular(16;0.00264)|Lung NSC(18;0.0626)|all_lung(18;0.13)	534					D3DU45|Q7L416|Q96FR1|Q96MC7|Q96S30	Silent	SNP	ENST00000399932.3	37	c.1602C>T	CCDS10402.1	.	.	.	.	.	.	.	.	.	.	C	0.095	-1.161177	0.01673	.	.	ENSG00000167930	ENST00000424016	.	.	.	5.01	-3.89	0.04193	.	.	.	.	.	T	0.32010	0.0815	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.42015	-0.9476	4	.	.	.	-17.144	10.313	0.43721	0.2453:0.2737:0.481:0.0	.	.	.	.	I	174	.	.	T	+	2	0	ITFG3	254965	0.004000	0.15560	0.006000	0.13384	0.131000	0.20780	-0.514000	0.06298	-0.155000	0.11098	0.561000	0.74099	ACA		0.652	ITFG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000134227.2	NM_032039		14	61	0	0	0	1	0	14	61					T	314964	C	T	314964	2	4	202	1	0	0	0	0	0	0	0	1	7871	477	17	3		3	ITFG3	16	314964	Silent	SNP	C	TCGA-HC-7210-01A-11D-2114-08		314964	90039789	37	9334											
ABCA9	10350	broad.mit.edu	37	chr17	67016632	67016632	+	Frame_Shift_Del	DEL	T	T	-																															cacgccactgattgttttccTtgtttcgtggaaggaagaca																										TCGA-HC-7210-01A-11D-2114-08	TCGA-HC-7210-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed251d-bf15-4ec0-af02-0dc5e856907e	d1e9fad6-a37e-4dd5-8011-6cff3fa8fd57	g.chr17:67016632delT	ENST00000340001.4	-	19	2708	c.2497delA	c.(2497-2499)aggfs	p.R833fs	ABCA9_ENST00000453985.2_Frame_Shift_Del_p.R833fs|ABCA9_ENST00000370732.2_Frame_Shift_Del_p.R833fs|ABCA9-AS1_ENST00000458677.1_RNA	NM_080283.3	NP_525022.2	Q8IUA7	ABCA9_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 9	833					transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	91	Breast(10;1.47e-12)					ATTGTTTTCCTTGTTTCGTGG	0.428																																						ENST00000340001.4																			0				NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	91						c.(2497-2499)ggfs		ATP-binding cassette, sub-family A (ABC1), member 9							118	108	111					17																	67016632		2203	4300	6503	SO:0001589	frameshift_variant	10350				transport	integral to membrane	ATP binding|ATPase activity	g.chr17:67016632delT	AF423307	CCDS11681.1	17q24	2012-03-14			ENSG00000154258	ENSG00000154258		"ATP binding cassette transporters / subfamily A"	39	protein-coding gene	gene with protein product		612507					Standard	XM_005256934		Approved	EST640918	uc002jhu.3	Q8IUA7	OTTHUMG00000140371	ENST00000340001.4:c.2497delA	17.37:g.67016632delT	ENSP00000342216:p.Arg833fs					ABCA9_ENST00000453985.2_Frame_Shift_Del_p.R833fs|ABCA9_ENST00000370732.2_Frame_Shift_Del_p.R833fs	p.R833fs	NM_080283.3	NP_525022.2	Q8IUA7	ABCA9_HUMAN			19	2708	-	Breast(10;1.47e-12)		833					Q6P655|Q8N2S4|Q8WWZ5|Q96MD8	Frame_Shift_Del	DEL	ENST00000340001.4	37	c.2497delA	CCDS11681.1																																																																																				0.428	ABCA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277072.2	NM_172386		35	117						35	117	---	---	---	---	-	67016632	T	-	67016632	7	5	202	1	0	1	0	1	0	0	0	0	39	1608	56	0	2461	0	ABCA9	17	67016632	Frame_Shift_Del	DEL	T	TCGA-HC-7210-01A-11D-2114-08		67016632	14178578	38	9335											
LMAN1	3998	broad.mit.edu	37	chr18	57020490	57020490	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gacaggatagggtttgttgcGgaagtccctctggcaacttg	8	11	14	8	1	1	0	0	0	1	0	2	3	2	2	1	4	2	3	1	4	3	4			TCGA-HC-7210-01A-11D-2114-08	TCGA-HC-7210-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed251d-bf15-4ec0-af02-0dc5e856907e	d1e9fad6-a37e-4dd5-8011-6cff3fa8fd57	g.chr18:57020490G>T	ENST00000251047.5	-	5	1300	c.583C>A	c.(583-585)Cgc>Agc	p.R195S	LMAN1_ENST00000587940.1_5'Flank	NM_005570.3	NP_005561.1	P49257	LMAN1_HUMAN	lectin, mannose-binding, 1	195	L-type lectin-like. {ECO:0000255|PROSITE- ProRule:PRU00658}.				blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum organization (GO:0007029)|ER to Golgi vesicle-mediated transport (GO:0006888)|Golgi organization (GO:0007030)|positive regulation of organelle organization (GO:0010638)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)|protein transport (GO:0015031)	endoplasmic reticulum membrane (GO:0005789)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|ER to Golgi transport vesicle membrane (GO:0012507)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|sarcomere (GO:0030017)	mannose binding (GO:0005537)|metal ion binding (GO:0046872)|unfolded protein binding (GO:0051082)			breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	16		Colorectal(73;0.0946)			Antihemophilic Factor(DB00025)	GGTTTGTTGCGGAAGTCCCTC	0.403																																						ENST00000251047.5																			0				breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	16						c.(583-585)Cgc>Agc		lectin, mannose-binding, 1	Antihemophilic Factor(DB00025)						167	154	159					18																	57020490		2203	4300	6503	SO:0001583	missense	3998				blood coagulation|ER to Golgi vesicle-mediated transport|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|protein transport	endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane	mannose binding|metal ion binding|unfolded protein binding	g.chr18:57020490G>T	X71661	CCDS11974.1	18q21.3-q22	2014-09-17	2002-08-30		ENSG00000074695	ENSG00000074695			6631	protein-coding gene	gene with protein product	"endoplasmic reticulum-golgi intermediate compartment protein 53"	601567	"coagulation factor V-factor VIII combined deficiency"	F5F8D		9546392, 8854877	Standard	NM_005570		Approved	MR60, ERGIC-53, ERGIC53, gp58, MCFD1, FMFD1	uc002lhz.3	P49257	OTTHUMG00000132758	ENST00000251047.5:c.583C>A	18.37:g.57020490G>T	ENSP00000251047:p.Arg195Ser						p.R195S	NM_005570.3	NP_005561.1	P49257	LMAN1_HUMAN			5	1300	-		Colorectal(73;0.0946)	195			L-type lectin-like.		Q12895|Q8N5I7|Q9UQG1|Q9UQG2|Q9UQG3|Q9UQG4|Q9UQG5|Q9UQG6|Q9UQG7|Q9UQG8|Q9UQG9|Q9UQH0|Q9UQH1|Q9UQH2	Missense_Mutation	SNP	ENST00000251047.5	37	c.583C>A	CCDS11974.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.282814	0.80692	.	.	ENSG00000074695	ENST00000251047	T	0.68181	-0.31	6.01	5.14	0.70334	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);	0.049999	0.85682	D	0.000000	D	0.87589	0.6215	H	0.97023	3.925	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.91329	0.5088	10	0.62326	D	0.03	-11.848	14.6681	0.68924	0.07:0.0:0.93:0.0	.	195;195	B4DVV0;P49257	.;LMAN1_HUMAN	S	195	ENSP00000251047:R195S	ENSP00000251047:R195S	R	-	1	0	LMAN1	55171470	1.000000	0.71417	0.842000	0.33263	0.812000	0.45895	7.280000	0.78610	1.541000	0.49316	0.655000	0.94253	CGC		0.403	LMAN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256129.2	NM_005570		23	99	1	0	1.10923e-09	1	1.17323e-09	23	99					T	57020490	G	T	57020490	3	4	202	1	0	0	0	0	1	0	0	0	8836	1116	39	5	985	5	LMAN1	18	57020490	Missense_Mutation	SNP	G	TCGA-HC-7210-01A-11D-2114-08		57020490	21056758	39	9336											
BRD1	23774	broad.mit.edu	37	chr22	50217248	50217248	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gtagcactcctggtgcacggCcaggttgcacatgtcgcaga	8	8	13	12	2	0	1	0	0	0	1	2	1	1	1	2	3	3	6	2	3	1	2			TCGA-HC-7210-01A-11D-2114-08	TCGA-HC-7210-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed251d-bf15-4ec0-af02-0dc5e856907e	d1e9fad6-a37e-4dd5-8011-6cff3fa8fd57	g.chr22:50217248C>T	ENST00000216267.8	-	1	1204	c.718G>A	c.(718-720)Gcc>Acc	p.A240T	BRD1_ENST00000459821.1_5'Flank|BRD1_ENST00000542442.1_5'Flank|BRD1_ENST00000404034.1_Missense_Mutation_p.A240T|BRD1_ENST00000342989.5_5'Flank|BRD1_ENST00000457780.2_Missense_Mutation_p.A240T|BRD1_ENST00000404760.1_Missense_Mutation_p.A240T	NM_014577.1	NP_055392.1	O95696	BRD1_HUMAN	bromodomain containing 1	240					histone H3 acetylation (GO:0043966)	MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleus (GO:0005634)	histone binding (GO:0042393)|zinc ion binding (GO:0008270)			endometrium(6)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	37		all_cancers(38;6.11e-10)|all_epithelial(38;8.06e-09)|all_lung(38;6.64e-05)|Lung NSC(38;0.0011)|Breast(42;0.00235)|Ovarian(80;0.0139)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0369)|BRCA - Breast invasive adenocarcinoma(115;0.21)		TGGTGCACGGCCAGGTTGCAC	0.657																																						ENST00000216267.8																			0				endometrium(6)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	37						c.(718-720)Gcc>Acc		bromodomain containing 1							45	38	40					22																	50217248		2203	4300	6503	SO:0001583	missense	23774				histone H3 acetylation	MOZ/MORF histone acetyltransferase complex	zinc ion binding	g.chr22:50217248C>T	AF005067	CCDS14080.1	22q13.33	2008-07-01	2002-01-14		ENSG00000100425	ENSG00000100425			1102	protein-coding gene	gene with protein product	"BR140-like"	604589	"bromodomain-containing 1"			10591208, 10602503	Standard	NM_014577		Approved	BRL, BRPF2	uc003biv.3	O95696	OTTHUMG00000150288	ENST00000216267.8:c.718G>A	22.37:g.50217248C>T	ENSP00000216267:p.Ala240Thr					BRD1_ENST00000457780.2_Missense_Mutation_p.A240T|BRD1_ENST00000404034.1_Missense_Mutation_p.A240T|BRD1_ENST00000404760.1_Missense_Mutation_p.A240T	p.A240T	NM_014577.1	NP_055392.1	O95696	BRD1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.0369)|BRCA - Breast invasive adenocarcinoma(115;0.21)	1	1204	-		all_cancers(38;6.11e-10)|all_epithelial(38;8.06e-09)|all_lung(38;6.64e-05)|Lung NSC(38;0.0011)|Breast(42;0.00235)|Ovarian(80;0.0139)|Lung SC(80;0.164)	240					A6ZJA4	Missense_Mutation	SNP	ENST00000216267.8	37	c.718G>A	CCDS14080.1	.	.	.	.	.	.	.	.	.	.	C	28.3	4.908723	0.92107	.	.	ENSG00000100425	ENST00000216267;ENST00000404034;ENST00000404760;ENST00000457780	D;D;D;D	0.88046	-2.33;-2.33;-2.33;-2.33	5.0	5.0	0.66597	Zinc finger, PHD-finger (1);Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, PHD-type, conserved site (1);Zinc finger, PHD-type (1);Zinc finger, FYVE/PHD-type (1);	0.000000	0.85682	D	0.000000	D	0.92133	0.7506	L	0.59967	1.855	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;0.999	D	0.91605	0.5298	9	.	.	.	.	18.2912	0.90131	0.0:1.0:0.0:0.0	.	240;240;240	Q86X06;O95696;O95696-2	.;BRD1_HUMAN;.	T	240	ENSP00000216267:A240T;ENSP00000384076:A240T;ENSP00000385858:A240T;ENSP00000410042:A240T	.	A	-	1	0	BRD1	48603252	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.545000	0.67237	2.323000	0.78572	0.467000	0.42956	GCC		0.657	BRD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317402.1	NM_014577		9	22	0	0	0	1	0	9	22					T	50217248	C	T	50217248	3	4	202	1	0	0	0	0	1	0	0	0	1501	739	26	3	2506	3	BRD1	22	50217248	Missense_Mutation	SNP	C	TCGA-HC-7210-01A-11D-2114-08		50217248	1087318	40	9337											
GPR119	139760	broad.mit.edu	37	chrX	129518743	129518743	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctcccaatgagaacagacaCagtacggagagctttgaagt	14	7	11	9	1	0	4	0	2	0	3	1	6	1	4	1	1	3	3	1	1	4	2			TCGA-HC-7210-01A-11D-2114-08	TCGA-HC-7210-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed251d-bf15-4ec0-af02-0dc5e856907e	d1e9fad6-a37e-4dd5-8011-6cff3fa8fd57	g.chrX:129518743C>G	ENST00000276218.2	-	1	768	c.679G>C	c.(679-681)Gtg>Ctg	p.V227L		NM_178471.2	NP_848566.1	Q8TDV5	GP119_HUMAN	G protein-coupled receptor 119	227					insulin secretion (GO:0030073)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	G-protein coupled receptor activity (GO:0004930)|phosphatidylcholine binding (GO:0031210)			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(3)|prostate(1)	11						AGAACAGACACAGTACGGAGA	0.547																																						ENST00000276218.2																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(3)|prostate(1)	11						c.(679-681)Gtg>Ctg		G protein-coupled receptor 119							101	81	88					X																	129518743		2203	4300	6503	SO:0001583	missense	139760					integral to membrane|plasma membrane	lipid binding	g.chrX:129518743C>G	AY288416	CCDS14625.1	Xq26.1	2014-01-30			ENSG00000147262	ENSG00000147262		"GPCR / Class A : Orphans"	19060	protein-coding gene	gene with protein product		300513				12044878, 14623098	Standard	NM_178471		Approved	hGPCR2, GPCR2	uc011muv.2	Q8TDV5	OTTHUMG00000022397	ENST00000276218.2:c.679G>C	X.37:g.129518743C>G	ENSP00000276218:p.Val227Leu						p.V227L	NM_178471.2	NP_848566.1	Q8TDV5	GP119_HUMAN			1	768	-			227					Q495H7|Q4VBN3	Missense_Mutation	SNP	ENST00000276218.2	37	c.679G>C	CCDS14625.1	.	.	.	.	.	.	.	.	.	.	C	6.969	0.548658	0.13312	.	.	ENSG00000147262	ENST00000276218	T	0.30981	1.51	5.15	4.27	0.50696	GPCR, rhodopsin-like superfamily (1);	0.067439	0.64402	D	0.000018	T	0.17959	0.0431	N	0.03608	-0.345	0.41821	D	0.990022	P	0.52170	0.951	P	0.51918	0.684	T	0.08166	-1.0735	10	0.02654	T	1	-4.3166	12.1115	0.53842	0.0:0.9124:0.0:0.0876	.	227	Q8TDV5	GP119_HUMAN	L	227	ENSP00000276218:V227L	ENSP00000276218:V227L	V	-	1	0	GPR119	129346424	0.999000	0.42202	0.529000	0.27951	0.466000	0.32739	4.322000	0.59215	1.123000	0.41961	0.600000	0.82982	GTG		0.547	GPR119-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058270.1	NM_178471		27	20	0	0	0	1	0	27	20					G	129518743	C	G	129518743	3	3	202	1	0	0	0	0	1	0	0	0	6634	478	17	5	332	5	GPR119	23	129518743	Missense_Mutation	SNP	C	TCGA-HC-7210-01A-11D-2114-08		129518743	25751817	41	9338											
CHD5	26038	broad.mit.edu	37	chr1	6166702	6166702	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gatggtggggtccccggcgcGgttggtcaggcggctcagga	4	7	20	10	4	2	0	2	0	0	0	3	2	3	1	2	9	0	2	2	9	0	1			TCGA-HC-7211-01A-11D-2114-08	TCGA-HC-7211-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff8ce081-3108-487c-afd1-a46bcae93fd2	47da9ef1-cc95-44f3-8566-406eb118835a	g.chr1:6166702G>A	ENST00000262450.3	-	39	5815	c.5716C>T	c.(5716-5718)Cgc>Tgc	p.R1906C	CHD5_ENST00000378021.1_Missense_Mutation_p.R763C	NM_015557.2	NP_056372.1	O00258	WRB_HUMAN	chromodomain helicase DNA binding protein 5	0					tail-anchored membrane protein insertion into ER membrane (GO:0071816)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)				breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		TCCCCGGCGCGGTTGGTCAGG	0.751																																						ENST00000262450.3																			0				breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16						c.(5716-5718)Cgc>Tgc		chromodomain helicase DNA binding protein 5							9	11	10					1																	6166702		2160	4256	6416	SO:0001583	missense	26038				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding	g.chr1:6166702G>A	AF425231	CCDS57.1	1p36.3	2013-01-28			ENSG00000116254	ENSG00000116254		"Zinc fingers, PHD-type"	16816	protein-coding gene	gene with protein product		610771				11889561, 12592387	Standard	NM_015557		Approved		uc001amb.2	Q8TDI0	OTTHUMG00000000952	ENST00000262450.3:c.5716C>T	1.37:g.6166702G>A	ENSP00000262450:p.Arg1906Cys					CHD5_ENST00000378021.1_Missense_Mutation_p.R763C	p.R1906C	NM_015557.2	NP_056372.1	Q8TDI0	CHD5_HUMAN		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)	39	5815	-	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)	1906					A8KAP8|A8MQ44|D3DSH9|O60740	Missense_Mutation	SNP	ENST00000262450.3	37	c.5716C>T	CCDS57.1	.	.	.	.	.	.	.	.	.	.	g	16.72	3.200465	0.58126	.	.	ENSG00000116254	ENST00000262450;ENST00000378021;ENST00000377999	D;T	0.91686	-2.89;2.11	4.62	4.62	0.57501	.	0.000000	0.64402	D	0.000005	D	0.93446	0.7909	L	0.29908	0.895	0.54753	D	0.999987	D;D	0.89917	1.0;0.997	D;P	0.78314	0.991;0.649	D	0.94691	0.7874	10	0.87932	D	0	-15.9612	17.8275	0.88669	0.0:0.0:1.0:0.0	.	1906;763	Q8TDI0;Q5TG85	CHD5_HUMAN;.	C	1906;763;763	ENSP00000262450:R1906C;ENSP00000367260:R763C	ENSP00000262450:R1906C	R	-	1	0	CHD5	6089289	1.000000	0.71417	0.977000	0.42913	0.022000	0.10575	7.101000	0.76997	2.291000	0.77112	0.491000	0.48974	CGC		0.751	CHD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000002823.2	NM_015557		5	12	0	0	0	1	0	5	12					A	6166702	G	A	6166702	3	1	203	1	0	0	0	0	1	0	0	0	3328	1116	39	2	160	2	CHD5	1	6166702	Missense_Mutation	SNP	G	TCGA-HC-7211-01A-11D-2114-08		6166702	243083919	1	9339											
GLIS1	148979	broad.mit.edu	37	chr1	53975547	53975547	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggctgggcagaggcgggggTggagggctctggaagggtgg	5	5	26	5	1	1	1	0	0	1	1	1	3	1	3	0	10	0	3	0	10	1	0			TCGA-HC-7211-01A-11D-2114-08	TCGA-HC-7211-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff8ce081-3108-487c-afd1-a46bcae93fd2	47da9ef1-cc95-44f3-8566-406eb118835a	g.chr1:53975547T>G	ENST00000312233.2	-	8	2078	c.1512A>C	c.(1510-1512)ccA>ccC	p.P504P		NM_147193.2	NP_671726.2			GLIS family zinc finger 1											endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|skin(3)|urinary_tract(4)	24						GAGGCGGGGGTGGAGGGCTCT	0.672																																						ENST00000312233.2																			0				endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|skin(3)|urinary_tract(4)	24						c.(1510-1512)ccA>ccC		GLIS family zinc finger 1							13	16	15					1																	53975547		2189	4285	6474	SO:0001819	synonymous_variant	148979				negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding	g.chr1:53975547T>G	AK093474	CCDS582.1	1p32.3	2008-02-05			ENSG00000174332	ENSG00000174332		"Zinc fingers, C2H2-type"	29525	protein-coding gene	gene with protein product		610378				12042312, 14500813	Standard	NM_147193		Approved	FLJ36155	uc001cvr.1	Q8NBF1	OTTHUMG00000008079	ENST00000312233.2:c.1512A>C	1.37:g.53975547T>G							p.P504P	NM_147193.2	NP_671726.2	Q8NBF1	GLIS1_HUMAN			8	2078	-			504			Pro-rich.			Silent	SNP	ENST00000312233.2	37	c.1512A>C	CCDS582.1																																																																																				0.672	GLIS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022109.1	NM_147193		4	17	0	0	0	1	0	4	17					G	53975547	T	G	53975547	2	3	203	1	0	0	0	0	0	0	0	1	6445	1683	59	5		5	GLIS1	1	53975547	Silent	SNP	T	TCGA-HC-7211-01A-11D-2114-08	47808845	53975547	195275074	2	9340											
ELTD1	64123	broad.mit.edu	37	chr1	79470893	79470893	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ataggaacaattcaacaaagTggaaaaaaccactaaataaa	24	6	5	6	0	1	0	1	0	0	0	1	2	1	2	1	2	3	0	1	2	12	4			TCGA-HC-7211-01A-11D-2114-08	TCGA-HC-7211-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff8ce081-3108-487c-afd1-a46bcae93fd2	47da9ef1-cc95-44f3-8566-406eb118835a	g.chr1:79470893T>A	ENST00000370742.3	-	2	97	c.34A>T	c.(34-36)Act>Tct	p.T12S		NM_022159.3	NP_071442.2	Q9HBW9	ELTD1_HUMAN	EGF, latrophilin and seven transmembrane domain containing 1	12					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(45)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	69				COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148)		TTCAACAAAGTGGAAAAAACC	0.313																																						ENST00000370742.3																			0				NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(45)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	69						c.(34-36)Act>Tct		EGF, latrophilin and seven transmembrane domain containing 1							58	50	53					1																	79470893		1805	4073	5878	SO:0001583	missense	64123				neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr1:79470893T>A	AF192403	CCDS41352.1	1p33-p32	2014-08-08			ENSG00000162618	ENSG00000162618		"-", "GPCR / Class B : Orphans"	20822	protein-coding gene	gene with protein product						11050079	Standard	NM_022159		Approved	ETL	uc001diq.4	Q9HBW9	OTTHUMG00000009738	ENST00000370742.3:c.34A>T	1.37:g.79470893T>A	ENSP00000359778:p.Thr12Ser						p.T12S	NM_022159.3	NP_071442.2	Q9HBW9	ELTD1_HUMAN		COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148)	2	97	-			12					B1AR71|Q5KU34	Missense_Mutation	SNP	ENST00000370742.3	37	c.34A>T	CCDS41352.1	.	.	.	.	.	.	.	.	.	.	T	7.625	0.677707	0.14841	.	.	ENSG00000162618	ENST00000370742	T	0.35973	1.28	5.65	5.65	0.86999	.	0.169488	0.50627	D	0.000101	T	0.09069	0.0224	N	0.11000	0.08	0.33313	D	0.566298	P	0.35192	0.489	B	0.34093	0.175	T	0.15464	-1.0436	9	.	.	.	.	12.2707	0.54704	0.0:0.0:0.0:1.0	.	12	Q9HBW9	ELTD1_HUMAN	S	12	ENSP00000359778:T12S	.	T	-	1	0	ELTD1	79243481	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	4.208000	0.58486	2.155000	0.67459	0.482000	0.46254	ACT		0.313	ELTD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026859.1	NM_022159		12	31	0	0	0	1	0	12	31					A	79470893	T	A	79470893	3	1	203	1	0	0	0	0	1	0	0	0	5084	1696	59	5	2094	5	ELTD1	1	79470893	Missense_Mutation	SNP	T	TCGA-HC-7211-01A-11D-2114-08	25495346	79470893	169779728	3	9341											
ATP2B4	493	broad.mit.edu	37	chr1	203691620	203691620	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cactaggtgagaaattctttGatattgatagtgggaggaag	13	12	13	3	0	1	3	0	3	1	1	1	6	1	5	0	3	0	0	0	3	5	6			TCGA-HC-7211-01A-11D-2114-08	TCGA-HC-7211-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff8ce081-3108-487c-afd1-a46bcae93fd2	47da9ef1-cc95-44f3-8566-406eb118835a	g.chr1:203691620G>A	ENST00000357681.5	+	18	3950	c.2827G>A	c.(2827-2829)Gat>Aat	p.D943N	ATP2B4_ENST00000391954.2_Missense_Mutation_p.D943N|ATP2B4_ENST00000341360.2_Missense_Mutation_p.D943N|ATP2B4_ENST00000367218.3_Missense_Mutation_p.D943N|ATP2B4_ENST00000367219.3_Missense_Mutation_p.D931N	NM_001684.4	NP_001675.3	P23634	AT2B4_HUMAN	ATPase, Ca++ transporting, plasma membrane 4	943					blood coagulation (GO:0007596)|calcium ion homeostasis (GO:0055074)|calcium ion import across plasma membrane (GO:0098703)|calcium ion transmembrane transport (GO:0070588)|cellular calcium ion homeostasis (GO:0006874)|cellular response to epinephrine stimulus (GO:0071872)|ion transmembrane transport (GO:0034220)|negative regulation of adrenergic receptor signaling pathway involved in heart process (GO:1901205)|negative regulation of arginine catabolic process (GO:1900082)|negative regulation of calcineurin-NFAT signaling cascade (GO:0070885)|negative regulation of cardiac muscle hypertrophy in response to stress (GO:1903243)|negative regulation of citrulline biosynthetic process (GO:1903249)|negative regulation of nitric oxide biosynthetic process (GO:0045019)|negative regulation of nitric oxide mediated signal transduction (GO:0010751)|negative regulation of nitric-oxide synthase activity (GO:0051001)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of the force of heart contraction (GO:0098736)|positive regulation of cAMP-dependent protein kinase activity (GO:2000481)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of sodium ion transmembrane transport (GO:1902305)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to hydrostatic pressure (GO:0051599)|transmembrane transport (GO:0055085)	caveola (GO:0005901)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|calmodulin binding (GO:0005516)|metal ion binding (GO:0046872)|nitric-oxide synthase binding (GO:0050998)|protein phosphatase 2B binding (GO:0030346)|scaffold protein binding (GO:0097110)			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(20)|ovary(2)|prostate(6)|skin(1)|stomach(1)|urinary_tract(3)	56	all_cancers(21;0.071)|all_epithelial(62;0.228)		BRCA - Breast invasive adenocarcinoma(75;0.109)			GAAATTCTTTGATATTGATAG	0.433																																						ENST00000357681.5																			0				NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(20)|ovary(2)|prostate(6)|skin(1)|stomach(1)|urinary_tract(3)	56						c.(2827-2829)Gat>Aat		ATPase, Ca++ transporting, plasma membrane 4							104	97	100					1																	203691620		2203	4300	6503	SO:0001583	missense	493				ATP biosynthetic process|platelet activation	integral to plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding	g.chr1:203691620G>A	M25874	CCDS1440.1, CCDS30977.1	1q32.1	2010-04-20	2005-05-26		ENSG00000058668	ENSG00000058668	3.6.3.8	"ATPases / P-type"	817	protein-coding gene	gene with protein product	"plasma membrane calcium-transporting ATPase 4"	108732	"matrix-remodelling associated 1"	ATP2B2, MXRA1		1674727	Standard	NM_001001396		Approved	PMCA4	uc001gzw.3	P23634	OTTHUMG00000035906	ENST00000357681.5:c.2827G>A	1.37:g.203691620G>A	ENSP00000350310:p.Asp943Asn					ATP2B4_ENST00000341360.2_Missense_Mutation_p.D943N|ATP2B4_ENST00000367218.3_Missense_Mutation_p.D943N|ATP2B4_ENST00000367219.3_Missense_Mutation_p.D931N|ATP2B4_ENST00000391954.2_Missense_Mutation_p.D943N	p.D943N	NM_001684.4	NP_001675.3	P23634	AT2B4_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.109)		18	3950	+	all_cancers(21;0.071)|all_epithelial(62;0.228)		943					B1APW5|B1APW6|Q13450|Q13452|Q13455|Q16817|Q7Z3S1	Missense_Mutation	SNP	ENST00000357681.5	37	c.2827G>A	CCDS1440.1	.	.	.	.	.	.	.	.	.	.	G	15.20	2.763236	0.49574	.	.	ENSG00000058668	ENST00000357681;ENST00000367218;ENST00000367219;ENST00000391954;ENST00000341360	D;D;D;D;D	0.95622	-3.76;-3.76;-3.76;-3.76;-3.76	5.1	4.18	0.49190	ATPase, P-type cation-transporter, C-terminal (1);ATPase, P-type,  transmembrane domain (1);	0.231170	0.30464	N	0.009561	D	0.92107	0.7498	N	0.20986	0.625	0.54753	D	0.999985	P;B;B	0.41366	0.747;0.005;0.338	P;B;B	0.44447	0.45;0.024;0.282	D	0.90058	0.4154	10	0.26408	T	0.33	-14.3552	15.3374	0.74269	0.0:0.1402:0.8598:0.0	.	943;943;943	P23634;P23634-6;B1APW5	AT2B4_HUMAN;.;.	N	943;943;931;943;943	ENSP00000350310:D943N;ENSP00000356187:D943N;ENSP00000356188:D931N;ENSP00000375816:D943N;ENSP00000340930:D943N	ENSP00000340930:D943N	D	+	1	0	ATP2B4	201958243	1.000000	0.71417	0.990000	0.47175	0.695000	0.40330	3.839000	0.55835	1.129000	0.42072	0.655000	0.94253	GAT		0.433	ATP2B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087462.1	NM_001001396		29	73	0	0	0	1	0	29	73					A	203691620	G	A	203691620	3	1	203	1	0	0	0	0	1	0	0	0	1142	1290	45	3	2893	3	ATP2B4	1	203691620	Missense_Mutation	SNP	G	TCGA-HC-7211-01A-11D-2114-08	124220727	203691620	45559001	4	9342											
OBSCN	84033	broad.mit.edu	37	chr1	228466409	228466409	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagctgccagtgaccctcgtGcgcccgctgcgggacaagat	7	6	14	14	4	0	2	0	1	0	1	1	4	0	3	3	1	4	2	3	1	1	0			TCGA-HC-7211-01A-11D-2114-08	TCGA-HC-7211-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff8ce081-3108-487c-afd1-a46bcae93fd2	47da9ef1-cc95-44f3-8566-406eb118835a	g.chr1:228466409G>A	ENST00000422127.1	+	26	6923	c.6879G>A	c.(6877-6879)gtG>gtA	p.V2293V	OBSCN_ENST00000570156.2_Silent_p.V2722V|OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000359599.6_Silent_p.V1140V|OBSCN_ENST00000366707.4_5'UTR|RP5-1139B12.3_ENST00000602529.1_RNA|RP5-1139B12.3_ENST00000602947.1_RNA|OBSCN_ENST00000284548.11_Silent_p.V2293V	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	2293	Ig-like 23.				apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				TGACCCTCGTGCGCCCGCTGC	0.667																																						ENST00000570156.2																			0				NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223						c.(8164-8166)gtG>gtA		obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF							40	47	44					1																	228466409		2111	4230	6341	SO:0001819	synonymous_variant	84033				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	g.chr1:228466409G>A	AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"Rho guanine nucleotide exchange factors", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.6879G>A	1.37:g.228466409G>A						OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000422127.1_Silent_p.V2293V|OBSCN_ENST00000359599.6_Silent_p.V1140V|OBSCN_ENST00000284548.11_Silent_p.V2293V	p.V2722V	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN			31	8240	+		Prostate(94;0.0405)	1720			Ig-like 26.		Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Silent	SNP	ENST00000422127.1	37	c.8166G>A	CCDS58065.1																																																																																				0.667	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843		11	84	0	0	0	1	0	11	84					A	228466409	G	A	228466409	2	1	203	1	0	0	0	0	0	0	0	1	10812	1306	46	3		3	OBSCN	1	228466409	Silent	SNP	G	TCGA-HC-7211-01A-11D-2114-08	24774789	228466409	20784212	5	9343											
ZNF695	57116	broad.mit.edu	37	chr1	247151356	247151356	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atttattgcattgaaagtttTtgctatgagtagttgctgag	10	18	10	3	0	0	3	0	3	0	0	0	3	0	3	0	0	3	6	0	0	4	9			TCGA-HC-7211-01A-11D-2114-08	TCGA-HC-7211-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff8ce081-3108-487c-afd1-a46bcae93fd2	47da9ef1-cc95-44f3-8566-406eb118835a	g.chr1:247151356T>C	ENST00000339986.7	-	4	608	c.461A>G	c.(460-462)aAa>aGa	p.K154R	ZNF695_ENST00000498046.2_Intron|ZNF695_ENST00000487338.2_Intron	NM_020394.4	NP_065127	Q8IW36	ZN695_HUMAN	zinc finger protein 695	154					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			endometrium(1)|large_intestine(1)|lung(9)|prostate(1)|urinary_tract(1)	13	all_cancers(71;4.01e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)			TTGAAAGTTTTTGCTATGAGT	0.348																																						ENST00000339986.7																			0				endometrium(1)|large_intestine(1)|lung(9)|prostate(1)|urinary_tract(1)	13						c.(460-462)aAa>aGa		zinc finger protein 695							201	192	195					1																	247151356		1879	4114	5993	SO:0001583	missense	57116				regulation of transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	g.chr1:247151356T>C		CCDS44344.1, CCDS55694.1	1q44	2013-01-08			ENSG00000197472	ENSG00000197472		"Zinc fingers, C2H2-type", "-"	30954	protein-coding gene	gene with protein product						12477932	Standard	NM_020394		Approved	SBZF3	uc009xgu.3	Q8IW36	OTTHUMG00000040707	ENST00000339986.7:c.461A>G	1.37:g.247151356T>C	ENSP00000341236:p.Lys154Arg					ZNF695_ENST00000498046.2_Intron|ZNF695_ENST00000487338.2_Intron	p.K154R	NM_020394.4	NP_065127.4	Q8IW36	ZN695_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00271)		4	608	-	all_cancers(71;4.01e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	154					Q5T0N9|Q5T0P1|Q5T0P3|Q7Z2W8|Q7Z648	Missense_Mutation	SNP	ENST00000339986.7	37	c.461A>G	CCDS44344.1	.	.	.	.	.	.	.	.	.	.	T	12.75	2.030470	0.35797	.	.	ENSG00000197472	ENST00000339986	T	0.01981	4.52	0.459	0.459	0.16678	Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.04452	0.0122	M	0.88031	2.925	0.09310	N	1	D	0.54772	0.968	B	0.39805	0.31	T	0.33189	-0.9878	9	0.72032	D	0.01	.	5.1621	0.15066	0.0:1.0E-4:0.0:0.9999	.	154	Q8IW36	ZN695_HUMAN	R	154	ENSP00000341236:K154R	ENSP00000341236:K154R	K	-	2	0	ZNF695	245217979	0.000000	0.05858	0.012000	0.15200	0.098000	0.18820	-1.092000	0.03366	0.403000	0.25479	0.164000	0.16699	AAA		0.348	ZNF695-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097823.5	NM_020394		24	245	0	0	0	1	0	24	245					C	247151356	T	C	247151356	3	2	203	1	0	0	0	0	1	0	0	0	18095	1841	64	4	1090	4	ZNF695	1	247151356	Missense_Mutation	SNP	T	TCGA-HC-7211-01A-11D-2114-08	18684947	247151356	2099265	6	9344											
BCL11A	53335	broad.mit.edu	37	chr2	60689483	60689483	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatccatgagtgttctgtgcGtgttgcaagagaaaccatgc	11	11	11	8	1	1	2	0	1	1	1	2	3	2	2	2	0	4	3	2	0	3	2	rs201796557		TCGA-HC-7211-01A-11D-2114-08	TCGA-HC-7211-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff8ce081-3108-487c-afd1-a46bcae93fd2	47da9ef1-cc95-44f3-8566-406eb118835a	g.chr2:60689483G>A	ENST00000335712.6	-	4	791	c.564C>T	c.(562-564)caC>caT	p.H188H	BCL11A_ENST00000477659.1_5'UTR|BCL11A_ENST00000537768.1_Silent_p.H36H|BCL11A_ENST00000356842.4_Silent_p.H188H|BCL11A_ENST00000359629.5_Silent_p.H188H|BCL11A_ENST00000538214.1_Silent_p.H154H|BCL11A_ENST00000358510.4_Silent_p.H154H	NM_022893.3	NP_075044.2	Q9H165	BC11A_HUMAN	B-cell CLL/lymphoma 11A (zinc finger protein)	188	Required for nuclear body formation and for SUMO1 recruitment. {ECO:0000250}.				B cell differentiation (GO:0030183)|negative regulation of axon extension (GO:0030517)|negative regulation of collateral sprouting (GO:0048671)|negative regulation of dendrite development (GO:2000171)|negative regulation of neuron projection development (GO:0010977)|negative regulation of protein homooligomerization (GO:0032463)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of collateral sprouting (GO:0048672)|positive regulation of neuron projection development (GO:0010976)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein sumoylation (GO:0016925)|regulation of dendrite development (GO:0050773)|T cell differentiation (GO:0030217)	cytoplasm (GO:0005737)|nuclear body (GO:0016604)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|transcription corepressor activity (GO:0003714)	p.H188H(3)		NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	59			LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)			TGTTCTGTGCGTGTTGCAAGA	0.473			T	IGH@	B-CLL																																	ENST00000335712.6				Dom	yes		2	2p13	53335	T	B-cell CLL/lymphoma 11A			L	IGH@		B-CLL		3	Substitution - coding silent(3)	p.H188H(3)	breast(3)	NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	59						c.(562-564)caC>caT		B-cell CLL/lymphoma 11A (zinc finger protein)		G	,,	0,4406		0,0,2203	93	94	94		564,564,564	5.8	1	2		94	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous	BCL11A	NM_018014.3,NM_022893.3,NM_138559.1	,,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,,	188/774,188/836,188/244	60689483	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	53335				negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding	g.chr2:60689483G>A	AJ404611	CCDS1861.1, CCDS1862.1, CCDS46295.1	2p16.1	2013-01-08	2002-05-08		ENSG00000119866	ENSG00000119866		"Zinc fingers, C2H2-type"	13221	protein-coding gene	gene with protein product		606557	"ecotropic viral integration site 9"	EVI9		11719382, 18245381	Standard	NM_018014		Approved	BCL11A-XL, BCL11A-L, BCL11A-S, CTIP1, HBFQTL5, ZNF856	uc002sae.1	Q9H165	OTTHUMG00000129420	ENST00000335712.6:c.564C>T	2.37:g.60689483G>A						BCL11A_ENST00000477659.1_5'UTR|BCL11A_ENST00000356842.4_Silent_p.H188H|BCL11A_ENST00000538214.1_Silent_p.H154H|BCL11A_ENST00000359629.5_Silent_p.H188H|BCL11A_ENST00000358510.4_Silent_p.H154H|BCL11A_ENST00000537768.1_Silent_p.H36H	p.H188H	NM_022893.3	NP_075044.2	Q9H165	BC11A_HUMAN	LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)		4	791	-			188			Required for nuclear body formation and for SUMO1 recruitment (By similarity).		D6W5D7|Q86W14|Q8WU92|Q96JL6|Q9H163|Q9H164|Q9H3G9|Q9NWA7	Silent	SNP	ENST00000335712.6	37	c.564C>T	CCDS1862.1																																																																																				0.473	BCL11A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251579.2	NM_022893		26	62	0	0	0	1	0	26	62					A	60689483	G	A	60689483	2	1	203	1	0	0	0	0	0	0	0	1	1363	1136	40	1		1	BCL11A	2	60689483	Silent	SNP	G	TCGA-HC-7211-01A-11D-2114-08		60689483	182509890	7	9345											
C1QL2	165257	broad.mit.edu	37	chr2	119915213	119915213	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggtgccgtcgccgccgcgCatgaggatgtggtaggtgaa	6	8	17	10	5	0	2	0	2	0	0	1	3	0	3	3	4	1	2	3	4	2	1			TCGA-HC-7211-01A-11D-2114-08	TCGA-HC-7211-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff8ce081-3108-487c-afd1-a46bcae93fd2	47da9ef1-cc95-44f3-8566-406eb118835a	g.chr2:119915213C>T	ENST00000272520.3	-	1	1252	c.633G>A	c.(631-633)atG>atA	p.M211I		NM_182528.3	NP_872334.2	Q7Z5L3	C1QL2_HUMAN	complement component 1, q subcomponent-like 2	211	C1q. {ECO:0000255|PROSITE- ProRule:PRU00368}.				protein oligomerization (GO:0051259)	collagen trimer (GO:0005581)|extracellular region (GO:0005576)				NS(1)|endometrium(1)|large_intestine(3)|pancreas(1)|prostate(1)	7						CGCCGCCGCGCATGAGGATGT	0.637										HNSCC(49;0.14)																												ENST00000272520.3																			0				NS(1)|endometrium(1)|large_intestine(3)|pancreas(1)|prostate(1)	7						c.(631-633)atG>atA		complement component 1, q subcomponent-like 2							55	61	59					2																	119915213		2202	4300	6502	SO:0001583	missense	165257					collagen		g.chr2:119915213C>T	AF525315	CCDS42737.1	2q14.2	2009-05-20			ENSG00000144119	ENSG00000144119			24181	protein-coding gene	gene with protein product	"C1q and tumor necrosis factor related protein 10"	614330				18783346	Standard	NM_182528		Approved	CTRP10, C1QTNF10	uc002tlo.2	Q7Z5L3	OTTHUMG00000153271	ENST00000272520.3:c.633G>A	2.37:g.119915213C>T	ENSP00000272520:p.Met211Ile	HNSCC(49;0.14)					p.M211I	NM_182528.3	NP_872334.2	Q7Z5L3	C1QL2_HUMAN			1	1252	-			211			C1q.			Missense_Mutation	SNP	ENST00000272520.3	37	c.633G>A	CCDS42737.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.066187	0.76187	.	.	ENSG00000144119	ENST00000272520	T	0.21031	2.03	4.87	4.87	0.63330	Tumour necrosis factor-like (2);Complement C1q protein (4);	0.000000	0.85682	D	0.000000	T	0.28200	0.0696	L	0.46819	1.47	0.58432	D	0.999999	B	0.28470	0.213	B	0.40982	0.345	T	0.04930	-1.0917	9	.	.	.	.	16.7477	0.85477	0.0:1.0:0.0:0.0	.	211	Q7Z5L3	C1QL2_HUMAN	I	211	ENSP00000272520:M211I	.	M	-	3	0	C1QL2	119631683	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.586000	0.82596	2.541000	0.85698	0.561000	0.74099	ATG		0.637	C1QL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330527.2	NM_182528		25	45	0	0	0	1	0	25	45					T	119915213	C	T	119915213	3	4	203	1	0	0	0	0	1	0	0	0	1959	710	25	3	238	3	C1QL2	2	119915213	Missense_Mutation	SNP	C	TCGA-HC-7211-01A-11D-2114-08	59225730	119915213	123284160	8	9346											
TNFAIP6	7130	broad.mit.edu	37	chr2	152235947	152235947	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aggtttccaaatcaaatatgTtgcaatggatcctgtatcca	13	13	7	8	0	1	0	1	0	0	0	4	1	4	1	3	2	1	4	3	2	5	4			TCGA-HC-7211-01A-11D-2114-08	TCGA-HC-7211-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff8ce081-3108-487c-afd1-a46bcae93fd2	47da9ef1-cc95-44f3-8566-406eb118835a	g.chr2:152235947T>C	ENST00000243347.3	+	6	809	c.734T>C	c.(733-735)gTt>gCt	p.V245A		NM_007115.3	NP_009046.2	P98066	TSG6_HUMAN	tumor necrosis factor, alpha-induced protein 6	245	CUB. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|inflammatory response (GO:0006954)|signal transduction (GO:0007165)		hyaluronic acid binding (GO:0005540)			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	13				BRCA - Breast invasive adenocarcinoma(221;0.131)	Hyaluronan(DB08818)	ATCAAATATGTTGCAATGGAT	0.378																																						ENST00000243347.3																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	13						c.(733-735)gTt>gCt		tumor necrosis factor, alpha-induced protein 6							119	125	123					2																	152235947		2203	4300	6503	SO:0001583	missense	7130				cell adhesion|cell-cell signaling|inflammatory response|signal transduction		hyaluronic acid binding	g.chr2:152235947T>C		CCDS2193.1	2q23.3	2008-11-18			ENSG00000123610	ENSG00000123610			11898	protein-coding gene	gene with protein product		600410				1730767, 8568267, 15060082	Standard	NM_007115		Approved	TSG6, TSG-6	uc002txk.3	P98066	OTTHUMG00000131884	ENST00000243347.3:c.734T>C	2.37:g.152235947T>C	ENSP00000243347:p.Val245Ala						p.V245A	NM_007115.3	NP_009046.2	P98066	TSG6_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.131)	6	809	+			245			CUB.		Q53TI7|Q8WWI9	Missense_Mutation	SNP	ENST00000243347.3	37	c.734T>C	CCDS2193.1	.	.	.	.	.	.	.	.	.	.	T	9.844	1.191751	0.21954	.	.	ENSG00000123610	ENST00000243347	T	0.28255	1.62	5.66	4.5	0.54988	CUB (4);	0.599534	0.17982	N	0.155491	T	0.14485	0.0350	N	0.12527	0.23	0.09310	N	1	B	0.17038	0.02	B	0.12837	0.008	T	0.31166	-0.9953	10	0.08837	T	0.75	.	7.6393	0.28284	0.0:0.2312:0.0:0.7688	.	245	P98066	TSG6_HUMAN	A	245	ENSP00000243347:V245A	ENSP00000243347:V245A	V	+	2	0	TNFAIP6	151944193	0.000000	0.05858	0.014000	0.15608	0.693000	0.40251	0.782000	0.26788	0.966000	0.38159	0.533000	0.62120	GTT		0.378	TNFAIP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254834.2	NM_007115		15	159	0	0	0	1	0	15	159					C	152235947	T	C	152235947	3	2	203	1	0	0	0	0	1	0	0	0	16272	1725	60	4	756	4	TNFAIP6	2	152235947	Missense_Mutation	SNP	T	TCGA-HC-7211-01A-11D-2114-08	32320734	152235947	90963426	9	9347											
CAND2	23066	broad.mit.edu	37	chr3	12845003	12845003	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaggttcatggccaccagcGacctgatgtcggagttgcag	8	8	14	11	2	1	1	1	1	0	0	2	3	1	2	3	3	2	4	3	3	0	2			TCGA-HC-7211-01A-11D-2114-08	TCGA-HC-7211-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff8ce081-3108-487c-afd1-a46bcae93fd2	47da9ef1-cc95-44f3-8566-406eb118835a	g.chr3:12845003G>T	ENST00000456430.2	+	2	126	c.85G>T	c.(85-87)Gac>Tac	p.D29Y	CAND2_ENST00000295989.5_Missense_Mutation_p.D29Y	NM_001162499.1	NP_001155971.1	O75155	CAND2_HUMAN	cullin-associated and neddylation-dissociated 2 (putative)	29					positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	intracellular (GO:0005622)|nucleus (GO:0005634)				breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(8)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						GGCCACCAGCGACCTGATGTC	0.607																																					GBM(43;676 868 1633 6395 37496)	ENST00000456430.2																			0				breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(8)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						c.(85-87)Gac>Tac		cullin-associated and neddylation-dissociated 2 (putative)							49	56	53					3																	12845003		2193	4292	6485	SO:0001583	missense	23066				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	g.chr3:12845003G>T		CCDS43053.1, CCDS54554.1	3p25.2	2008-02-05			ENSG00000144712	ENSG00000144712			30689	protein-coding gene	gene with protein product	"TBP interacting protein"	610403				9734811, 10441524	Standard	NM_012298		Approved	TIP120B, KIAA0667, Tp120b	uc003bxk.2	O75155	OTTHUMG00000155397	ENST00000456430.2:c.85G>T	3.37:g.12845003G>T	ENSP00000387641:p.Asp29Tyr					CAND2_ENST00000295989.5_Missense_Mutation_p.D29Y	p.D29Y	NM_001162499.1	NP_001155971.1	O75155	CAND2_HUMAN			2	126	+			29					B9EGM9|E9KL24	Missense_Mutation	SNP	ENST00000456430.2	37	c.85G>T	CCDS54554.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.336094	0.81801	.	.	ENSG00000144712	ENST00000295989;ENST00000456430	T;T	0.08008	3.14;3.14	4.59	4.59	0.56863	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.40956	0.1138	H	0.95114	3.625	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.56541	-0.7962	10	0.62326	D	0.03	-10.8109	15.3036	0.73976	0.0:0.0:1.0:0.0	.	29;29	O75155;O75155-2	CAND2_HUMAN;.	Y	29	ENSP00000295989:D29Y;ENSP00000387641:D29Y	ENSP00000295989:D29Y	D	+	1	0	CAND2	12820003	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	9.532000	0.98057	2.537000	0.85549	0.655000	0.94253	GAC		0.607	CAND2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339856.4	XM_371617		4	79	1	0	1.23904e-05	1	1.26287e-05	4	79					T	12845003	G	T	12845003	3	4	203	1	0	0	0	0	1	0	0	0	2616	1058	37	5	91	5	CAND2	3	12845003	Missense_Mutation	SNP	G	TCGA-HC-7211-01A-11D-2114-08		12845003	185177427	10	9348											
DCAF4L1	285429	broad.mit.edu	37	chr4	41983829	41983829	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aatggaggctgaaaggctgcGactcctcgaggaagaggcca	12	5	15	9	2	0	2	0	1	0	1	2	6	1	4	2	5	1	2	2	5	3	0			TCGA-HC-7211-01A-11D-2114-08	TCGA-HC-7211-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff8ce081-3108-487c-afd1-a46bcae93fd2	47da9ef1-cc95-44f3-8566-406eb118835a	g.chr4:41983829G>A	ENST00000333141.5	+	1	117	c.20G>A	c.(19-21)cGa>cAa	p.R7Q		NM_001029955.3	NP_001025126.2	Q3SXM0	DC4L1_HUMAN	DDB1 and CUL4 associated factor 4-like 1	7										breast(1)|endometrium(5)|kidney(6)|large_intestine(11)|lung(12)|prostate(1)|skin(1)	37						GAAAGGCTGCGACTCCTCGAG	0.502																																						ENST00000333141.5																			0				breast(1)|endometrium(5)|kidney(6)|large_intestine(11)|lung(12)|prostate(1)|skin(1)	37						c.(19-21)cGa>cAa		DDB1 and CUL4 associated factor 4-like 1							83	83	83					4																	41983829		2203	4300	6503	SO:0001583	missense	285429							g.chr4:41983829G>A	BC035027	CCDS33978.1	4p13	2013-01-09	2009-07-17	2009-07-17		ENSG00000182308		"WD repeat domain containing"	27723	protein-coding gene	gene with protein product			"WD repeat domain 21B"	WDR21B			Standard	NM_001029955		Approved		uc003gwk.2	Q3SXM0		ENST00000333141.5:c.20G>A	4.37:g.41983829G>A	ENSP00000327796:p.Arg7Gln						p.R7Q	NM_001029955.3	NP_001025126.2	Q3SXM0	DC4L1_HUMAN			1	117	+			7					B3KVI3|Q3ZCW8|Q499Y5|Q9UFI0	Missense_Mutation	SNP	ENST00000333141.5	37	c.20G>A	CCDS33978.1	.	.	.	.	.	.	.	.	.	.	G	1.370	-0.586475	0.03827	.	.	ENSG00000182308	ENST00000333141	T	0.38887	1.11	0.815	-0.951	0.10369	.	0.667308	0.15593	N	0.254294	T	0.14787	0.0357	N	0.04203	-0.255	0.22858	N	0.998648	B	0.10296	0.003	B	0.01281	0.0	T	0.23511	-1.0186	10	0.13470	T	0.59	.	4.3815	0.11297	0.7028:0.0:0.2972:0.0	.	7	Q3SXM0	DC4L1_HUMAN	Q	7	ENSP00000327796:R7Q	ENSP00000327796:R7Q	R	+	2	0	DCAF4L1	41678586	0.993000	0.37304	0.023000	0.16930	0.068000	0.16541	0.184000	0.16939	-0.376000	0.07943	-0.379000	0.06801	CGA		0.502	DCAF4L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360958.1	NM_001029955		5	86	0	0	0	1	0	5	86					A	41983829	G	A	41983829	3	1	203	1	0	0	0	0	1	0	0	0	4271	1058	37	2	22	2	DCAF4L1	4	41983829	Missense_Mutation	SNP	G	TCGA-HC-7211-01A-11D-2114-08		41983829	149170447	11	9349											
RAPGEF6	51735	broad.mit.edu	37	chr5	130766933	130766933	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	acacgaagtccaacttccacGaccactgtcagctgcttcta	11	9	6	15	2	2	0	1	0	1	0	4	2	4	0	3	0	3	2	3	0	3	3	rs147775864		TCGA-HC-7211-01A-11D-2114-08	TCGA-HC-7211-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff8ce081-3108-487c-afd1-a46bcae93fd2	47da9ef1-cc95-44f3-8566-406eb118835a	g.chr5:130766933G>A	ENST00000509018.1	-	26	4289	c.4084C>T	c.(4084-4086)Cgt>Tgt	p.R1362C	RAPGEF6_ENST00000296859.6_Missense_Mutation_p.R1370C|RAPGEF6_ENST00000307984.5_Missense_Mutation_p.R1375C|RAPGEF6_ENST00000507093.1_Missense_Mutation_p.R1370C|CTC-432M15.3_ENST00000514667.1_Missense_Mutation_p.R1412C	NM_001164386.1|NM_016340.5	NP_001157858.1|NP_057424.3	Q8TEU7	RPGF6_HUMAN	Rap guanine nucleotide exchange factor (GEF) 6	1362	Ser-rich.				positive regulation of GTPase activity (GO:0043547)|Ras protein signal transduction (GO:0007265)|regulation of GTPase activity (GO:0043087)|regulation of small GTPase mediated signal transduction (GO:0051056)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	GTP-dependent protein binding (GO:0030742)|guanyl-nucleotide exchange factor activity (GO:0005085)|Ras GTPase binding (GO:0017016)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|skin(1)|stomach(1)	31			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0721)		CAACTTCCACGACCACTGTCA	0.433																																					Melanoma(168;435 1955 13113 13877 23213)	ENST00000509018.1																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|skin(1)|stomach(1)	31						c.(4084-4086)Cgt>Tgt		Rap guanine nucleotide exchange factor (GEF) 6		G	CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG	0,4406		0,0,2203	95	96	96		4108,4123,4108,4084	5.1	1	5	dbSNP_134	96	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense	RAPGEF6	NM_001164386.1,NM_001164387.1,NM_001164388.1,NM_016340.5	180,180,180,180	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging	1370/1610,1375/1510,1370/1505,1362/1602	130766933	1,13005	2203	4300	6503	SO:0001583	missense	51735				Ras protein signal transduction|regulation of GTPase activity|regulation of small GTPase mediated signal transduction	cytoplasm|plasma membrane	GTP-dependent protein binding|guanyl-nucleotide exchange factor activity|Ras GTPase binding	g.chr5:130766933G>A	AF117947	CCDS34225.1, CCDS54897.1, CCDS54898.1, CCDS54899.1, CCDS54900.1	5q31.1	2008-02-05	2004-03-01	2004-03-02	ENSG00000158987	ENSG00000158987			20655	protein-coding gene	gene with protein product		610499	"PDZ domain containing guanine nucleotide exchange factor (GEF) 2"	PDZGEF2		11524421, 12095257	Standard	NM_016340		Approved	RA-GEF-2, PDZ-GEF2	uc010jdi.2	Q8TEU7	OTTHUMG00000162683	ENST00000509018.1:c.4084C>T	5.37:g.130766933G>A	ENSP00000421684:p.Arg1362Cys					RAPGEF6_ENST00000507093.1_Missense_Mutation_p.R1370C|FNIP1_ENST00000514667.1_Missense_Mutation_p.R1412C|RAPGEF6_ENST00000296859.6_Missense_Mutation_p.R1370C|RAPGEF6_ENST00000307984.5_Missense_Mutation_p.R1375C	p.R1362C	NM_001164386.1|NM_016340.5	NP_001157858.1|NP_057424.3	Q8TEU7	RPGF6_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0721)	26	4289	-			1362			Ser-rich.		A3KN82|A5PLL6|B7ZML2|E9PDV7|Q8NI21|Q8TEU6|Q96PC1	Missense_Mutation	SNP	ENST00000509018.1	37	c.4084C>T	CCDS34225.1	.	.	.	.	.	.	.	.	.	.	G	26.2	4.718367	0.89205	0.0	1.16E-4	ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000217128	ENST00000509018;ENST00000307984;ENST00000507093;ENST00000296859;ENST00000358714;ENST00000514667	T;T;T;T;T	0.53640	0.72;0.61;0.62;0.72;0.86	5.11	5.11	0.69529	.	0.000000	0.85682	D	0.000000	T	0.70386	0.3218	M	0.75264	2.295	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.999;0.999;0.999;0.999;0.999	T	0.74118	-0.3768	10	0.87932	D	0	.	18.9069	0.92466	0.0:0.0:1.0:0.0	.	1370;1370;1412;1375;1362	A3KN82;B7ZML2;E9PCH4;Q8TEU7-3;Q8TEU7	.;.;.;.;RPGF6_HUMAN	C	1362;1375;1370;1370;1375;1412	ENSP00000421684:R1362C;ENSP00000309298:R1375C;ENSP00000426081:R1370C;ENSP00000296859:R1370C;ENSP00000426948:R1412C	ENSP00000426948:R1412C	R	-	1	0	RAPGEF6;FNIP1	130794832	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	8.626000	0.90969	2.552000	0.86080	0.655000	0.94253	CGT		0.433	RAPGEF6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000370059.1	NM_016340		39	73	0	0	0	1	0	39	73					A	130766933	G	A	130766933	3	1	203	1	0	0	0	0	1	0	0	0	13048	1058	37	2	733	2	RAPGEF6	5	130766933	Missense_Mutation	SNP	G	TCGA-HC-7211-01A-11D-2114-08		130766933	50148327	12	9350											
LRRC16A	55604	broad.mit.edu	37	chr6	25538149	25538149	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tacgaaattgtgggggagacGctatccaggaagatttaaaa	15	9	12	5	2	0	2	0	0	0	2	1	5	1	3	1	3	1	1	1	3	6	5			TCGA-HC-7211-01A-11D-2114-08	TCGA-HC-7211-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff8ce081-3108-487c-afd1-a46bcae93fd2	47da9ef1-cc95-44f3-8566-406eb118835a	g.chr6:25538149G>A	ENST00000329474.6	+	25	2502	c.2134G>A	c.(2134-2136)Gct>Act	p.A712T		NM_001173977.1|NM_017640.5	NP_001167448.1|NP_060110.4	Q5VZK9	LR16A_HUMAN	leucine rich repeat containing 16A	712					actin filament organization (GO:0007015)|barbed-end actin filament uncapping (GO:0051638)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|lamellipodium assembly (GO:0030032)|negative regulation of barbed-end actin filament capping (GO:2000813)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell migration (GO:0030335)|positive regulation of lamellipodium organization (GO:1902745)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|ruffle organization (GO:0031529)|urate metabolic process (GO:0046415)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|lamellipodium (GO:0030027)|nucleus (GO:0005634)	protein complex binding (GO:0032403)			breast(4)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	50						TGGGGGAGACGCTATCCAGGA	0.433																																						ENST00000329474.6																			0				breast(4)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	50						c.(2134-2136)Gct>Act		leucine rich repeat containing 16A							55	53	54					6																	25538149		1912	4119	6031	SO:0001583	missense	55604				actin filament organization|blood coagulation|cell migration|lamellipodium assembly|ruffle organization|urate metabolic process	cytosol|lamellipodium|nucleus		g.chr6:25538149G>A	AK000055	CCDS54973.1	6p22.1	2010-09-10	2008-02-12	2008-02-12	ENSG00000079691	ENSG00000079691			21581	protein-coding gene	gene with protein product	"capping protein, Arp2/3, and Myosin-I Linker homolog 1 (Dictyostelium)"	609593	"leucine rich repeat containing 16"	LRRC16		19846667	Standard	NM_017640		Approved	dJ501N12.1, FLJ20048, CARMIL, CARMIL1	uc011djw.2	Q5VZK9	OTTHUMG00000014393	ENST00000329474.6:c.2134G>A	6.37:g.25538149G>A	ENSP00000331983:p.Ala712Thr						p.A712T	NM_001173977.1|NM_017640.5	NP_001167448.1|NP_060110.4	Q5VZK9	LR16A_HUMAN			25	2502	+			712					B8X1J0|Q6ZUH5|Q6ZW07|Q9NXU7	Missense_Mutation	SNP	ENST00000329474.6	37	c.2134G>A	CCDS54973.1	.	.	.	.	.	.	.	.	.	.	G	12.84	2.059471	0.36373	.	.	ENSG00000079691	ENST00000329474;ENST00000399313	T	0.15834	2.39	5.61	4.74	0.60224	.	0.222293	0.46442	D	0.000289	T	0.03651	0.0104	N	0.22421	0.69	0.80722	D	1	B;B;B;B	0.23854	0.032;0.06;0.092;0.032	B;B;B;B	0.21151	0.015;0.011;0.033;0.015	T	0.34329	-0.9833	10	0.16896	T	0.51	.	6.1668	0.20394	0.1441:0.0:0.695:0.1609	.	712;712;712;712	Q5VZK9;B2RTQ5;Q5VZK9-2;B8X1J0	LR16A_HUMAN;.;.;.	T	712	ENSP00000331983:A712T	ENSP00000331983:A712T	A	+	1	0	LRRC16A	25646128	0.961000	0.32948	0.989000	0.46669	0.995000	0.86356	2.439000	0.44846	2.629000	0.89072	0.655000	0.94253	GCT		0.433	LRRC16A-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000040045.2	NM_017640		3	16	0	0	0	1	0	3	16					A	25538149	G	A	25538149	3	1	203	1	0	0	0	0	1	0	0	0	8971	1087	38	1	2232	1	LRRC16A	6	25538149	Missense_Mutation	SNP	G	TCGA-HC-7211-01A-11D-2114-08		25538149	145576918	13	9351											
TBX18	9096	broad.mit.edu	37	chr6	85457764	85457764	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccacagtctttacggatgacGtgcactcgcggttggtattt	7	13	11	10	4	1	1	0	1	1	0	2	2	1	2	1	3	2	3	1	3	2	5			TCGA-HC-7211-01A-11D-2114-08	TCGA-HC-7211-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff8ce081-3108-487c-afd1-a46bcae93fd2	47da9ef1-cc95-44f3-8566-406eb118835a	g.chr6:85457764G>A	ENST00000369663.5	-	5	1150	c.813C>T	c.(811-813)caC>caT	p.H271H	TBX18_ENST00000606784.1_Silent_p.H113H|TBX18_ENST00000606521.1_5'UTR	NM_001080508.1	NP_001073977.1	O95935	TBX18_HUMAN	T-box 18	271					anterior/posterior axis specification (GO:0009948)|cochlea morphogenesis (GO:0090103)|morphogenesis of embryonic epithelium (GO:0016331)|negative regulation of canonical Wnt signaling pathway involved in neural plate anterior/posterior pattern formation (GO:0060829)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of mesenchymal cell proliferation involved in ureter development (GO:2000729)|sensory perception of sound (GO:0007605)|sinoatrial node development (GO:0003163)|smooth muscle cell differentiation (GO:0051145)|somitogenesis (GO:0001756)|ureter development (GO:0072189)	nucleus (GO:0005634)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(9)|liver(1)|lung(31)|ovary(2)|pancreas(3)|prostate(6)|skin(3)	61		all_cancers(76;0.000283)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0858)		BRCA - Breast invasive adenocarcinoma(108;0.0267)		TACGGATGACGTGCACTCGCG	0.448																																						ENST00000369663.5																			0				NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(9)|liver(1)|lung(31)|ovary(2)|pancreas(3)|prostate(6)|skin(3)	61						c.(811-813)caC>caT		T-box 18							97	86	90					6																	85457764		2203	4300	6503	SO:0001819	synonymous_variant	9096				multicellular organismal development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr6:85457764G>A	AJ010278	CCDS34495.1	6q14.1-q15	2012-12-19			ENSG00000112837	ENSG00000112837		"T-boxes"	11595	protein-coding gene	gene with protein product		604613				9888994, 16688725, 23242162	Standard	NM_001080508		Approved		uc003pkl.2	O95935	OTTHUMG00000015129	ENST00000369663.5:c.813C>T	6.37:g.85457764G>A						TBX18_ENST00000606784.1_Silent_p.H113H|TBX18_ENST00000606521.1_5'UTR	p.H271H	NM_001080508.1	NP_001073977.1	O95935	TBX18_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0267)	5	1150	-		all_cancers(76;0.000283)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0858)	271					A2RU13|Q7Z6U4|Q9UJI6	Silent	SNP	ENST00000369663.5	37	c.813C>T	CCDS34495.1																																																																																				0.448	TBX18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041378.2	NM_001080508		6	59	0	0	0	1	0	6	59					A	85457764	G	A	85457764	2	1	203	1	0	0	0	0	0	0	0	1	15650	1136	40	1		1	TBX18	6	85457764	Silent	SNP	G	TCGA-HC-7211-01A-11D-2114-08	59919615	85457764	85657303	14	9352											
TAF5	6877	broad.mit.edu	37	chr10	105133312	105133312	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acatgtacttggagctagtcTacaatcaacatgagaatgaa	16	10	8	7	0	2	2	1	2	1	1	2	4	2	3	0	1	4	2	0	1	7	4			TCGA-HC-7211-01A-11D-2114-08	TCGA-HC-7211-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff8ce081-3108-487c-afd1-a46bcae93fd2	47da9ef1-cc95-44f3-8566-406eb118835a	g.chr10:105133312T>A	ENST00000369839.3	+	2	780	c.757T>A	c.(757-759)Tac>Aac	p.Y253N	TAF5_ENST00000351396.4_Missense_Mutation_p.Y253N	NM_006951.3	NP_008882.2	Q15542	TAF5_HUMAN	TAF5 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 100kDa	253					chromatin modification (GO:0016568)|DNA-templated transcription, initiation (GO:0006352)|gene expression (GO:0010467)|histone acetylation (GO:0016573)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	actin cytoskeleton (GO:0015629)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)|transcription factor TFTC complex (GO:0033276)	protein dimerization activity (GO:0046983)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)	15		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;1.83e-09)|all cancers(201;1.4e-08)|BRCA - Breast invasive adenocarcinoma(275;0.198)		GGAGCTAGTCTACAATCAACA	0.388																																						ENST00000369839.3																			0				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)	15						c.(757-759)Tac>Aac		TAF5 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 100kDa							95	88	90					10																	105133312		2203	4300	6503	SO:0001583	missense	6877				histone acetylation|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	actin cytoskeleton|transcription factor TFIID complex|transcription factor TFTC complex	protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	g.chr10:105133312T>A	X95525	CCDS7547.1	10q24-q25.2	2013-01-10	2002-08-29	2001-12-07	ENSG00000148835	ENSG00000148835		"WD repeat domain containing"	11539	protein-coding gene	gene with protein product		601787	"TATA box binding protein (TBP)-associated factor, RNA polymerase II, D, 100kD"	TAF2D		8884287, 8942982	Standard	NM_006951		Approved	TAFII100	uc001kwv.3	Q15542	OTTHUMG00000018985	ENST00000369839.3:c.757T>A	10.37:g.105133312T>A	ENSP00000358854:p.Tyr253Asn					TAF5_ENST00000351396.4_Missense_Mutation_p.Y253N	p.Y253N	NM_006951.3	NP_008882.2	Q15542	TAF5_HUMAN		Epithelial(162;1.83e-09)|all cancers(201;1.4e-08)|BRCA - Breast invasive adenocarcinoma(275;0.198)	2	780	+		Colorectal(252;0.0747)|Breast(234;0.128)	253					A8K5B4|B2RMR0|B7ZKJ6|Q53EM4|Q5SYD5|Q86UZ7|Q9Y4K5	Missense_Mutation	SNP	ENST00000369839.3	37	c.757T>A	CCDS7547.1	.	.	.	.	.	.	.	.	.	.	T	21.1	4.095054	0.76870	.	.	ENSG00000148835	ENST00000369839;ENST00000351396	T;T	0.56275	0.74;0.47	5.14	5.14	0.70334	TFIID subunit, WD40-associated region (1);	0.000000	0.85682	D	0.000000	T	0.73281	0.3567	M	0.82517	2.595	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.97110	0.999;1.0	T	0.73962	-0.3817	10	0.31617	T	0.26	-8.0762	14.9486	0.71054	0.0:0.0:0.0:1.0	.	253;253	Q15542-2;Q15542	.;TAF5_HUMAN	N	253	ENSP00000358854:Y253N;ENSP00000311024:Y253N	ENSP00000311024:Y253N	Y	+	1	0	TAF5	105123302	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.698000	0.84413	1.939000	0.56221	0.459000	0.35465	TAC		0.388	TAF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050144.1			29	54	0	0	0	1	0	29	54					A	105133312	T	A	105133312	3	1	203	1	0	0	0	0	1	0	0	0	15525	1522	53	5	763	5	TAF5	10	105133312	Missense_Mutation	SNP	T	TCGA-HC-7211-01A-11D-2114-08		105133312	30401435	15	9353											
TRPC4	7223	broad.mit.edu	37	chr13	38320195	38320195	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagttctctggaacttctcGtctgatccagtaggtcctta	7	14	8	12	1	3	1	0	1	3	0	7	2	5	2	3	2	1	2	3	2	3	4			TCGA-HC-7211-01A-11D-2114-08	TCGA-HC-7211-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff8ce081-3108-487c-afd1-a46bcae93fd2	47da9ef1-cc95-44f3-8566-406eb118835a	g.chr13:38320195G>A	ENST00000379705.3	-	3	1633	c.776C>T	c.(775-777)aCg>aTg	p.T259M	TRPC4_ENST00000379681.3_Missense_Mutation_p.T259M|TRPC4_ENST00000338947.5_Intron|TRPC4_ENST00000379679.1_Intron|TRPC4_ENST00000355779.2_Missense_Mutation_p.T259M|TRPC4_ENST00000379673.2_Missense_Mutation_p.T259M|TRPC4_ENST00000358477.2_Missense_Mutation_p.T259M|TRPC4_ENST00000426868.2_Missense_Mutation_p.T259M|TRPC4_ENST00000447043.1_Missense_Mutation_p.T259M			Q9UBN4	TRPC4_HUMAN	transient receptor potential cation channel, subfamily C, member 4	259	Multimerization domain. {ECO:0000250}.				axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|gamma-aminobutyric acid secretion (GO:0014051)|ion transmembrane transport (GO:0034220)|oligodendrocyte differentiation (GO:0048709)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|calcium channel complex (GO:0034704)|caveola (GO:0005901)|cell surface (GO:0009986)|cortical cytoskeleton (GO:0030863)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|inositol 1,4,5 trisphosphate binding (GO:0070679)|store-operated calcium channel activity (GO:0015279)			NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	83				all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)		GGAACTTCTCGTCTGATCCAG	0.413																																						ENST00000379705.3																			0				NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	83						c.(775-777)aCg>aTg		transient receptor potential cation channel, subfamily C, member 4							167	156	160					13																	38320195		2203	4300	6503	SO:0001583	missense	7223				axon guidance|calcium ion import	basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton	beta-catenin binding|cadherin binding|store-operated calcium channel activity	g.chr13:38320195G>A	U40983	CCDS9365.1, CCDS45035.1, CCDS45036.1, CCDS45038.1, CCDS45039.1	13q13.3	2013-01-10			ENSG00000133107	ENSG00000133107		"Voltage-gated ion channels / Transient receptor potential cation channels", "Ankyrin repeat domain containing"	12336	protein-coding gene	gene with protein product		603651				8646775, 16382100	Standard	NM_016179		Approved	HTRP4, TRP4	uc010abx.3	Q9UBN4	OTTHUMG00000016752	ENST00000379705.3:c.776C>T	13.37:g.38320195G>A	ENSP00000369027:p.Thr259Met					TRPC4_ENST00000355779.2_Missense_Mutation_p.T259M|TRPC4_ENST00000426868.2_Missense_Mutation_p.T259M|TRPC4_ENST00000447043.1_Missense_Mutation_p.T259M|TRPC4_ENST00000379673.2_Missense_Mutation_p.T259M|TRPC4_ENST00000358477.2_Missense_Mutation_p.T259M|TRPC4_ENST00000379681.3_Missense_Mutation_p.T259M|TRPC4_ENST00000379679.1_Intron|TRPC4_ENST00000338947.5_Intron	p.T259M			Q9UBN4	TRPC4_HUMAN		all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)	3	1633	-			259			Multimerization domain (By similarity).		B1ALE0|B1ALE1|B1ALE2|Q15721|Q3SWS6|Q96P03|Q96P04|Q96P05|Q9UIB0|Q9UIB1|Q9UIB2	Missense_Mutation	SNP	ENST00000379705.3	37	c.776C>T	CCDS9365.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.382028	0.82792	.	.	ENSG00000133107	ENST00000379705;ENST00000379681;ENST00000426868;ENST00000355779;ENST00000358477;ENST00000379673;ENST00000447043	T;T;T;T;T;T;T	0.63744	-0.06;-0.06;-0.06;-0.06;-0.06;-0.06;-0.06	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	T	0.81955	0.4932	M	0.81802	2.56	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.85130	0.979;0.961;0.997;0.979;0.973	T	0.82313	-0.0519	10	0.72032	D	0.01	-26.0862	20.6593	0.99626	0.0:0.0:1.0:0.0	.	259;259;259;259;259	Q9UBN4-3;Q9UBN4-4;Q9UBN4-5;Q9UBN4-2;Q9UBN4	.;.;.;.;TRPC4_HUMAN	M	259	ENSP00000369027:T259M;ENSP00000369003:T259M;ENSP00000410133:T259M;ENSP00000348025:T259M;ENSP00000351264:T259M;ENSP00000368995:T259M;ENSP00000414316:T259M	ENSP00000348025:T259M	T	-	2	0	TRPC4	37218195	1.000000	0.71417	0.995000	0.50966	0.788000	0.44548	9.869000	0.99810	2.885000	0.99019	0.655000	0.94253	ACG		0.413	TRPC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044574.2	NM_003306		58	131	0	0	0	1	0	58	131					A	38320195	G	A	38320195	3	1	203	1	0	0	0	0	1	0	0	0	16577	1145	40	1	2208	1	TRPC4	13	38320195	Missense_Mutation	SNP	G	TCGA-HC-7211-01A-11D-2114-08		38320195	76849683	16	9354											
AHNAK2	113146	broad.mit.edu	37	chr14	105420975	105420975	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gacctctggggtcccggcccCcgcttgctctttatggattg	3	12	12	14	2	2	0	0	0	2	0	3	2	3	1	4	4	1	2	4	4	1	4			TCGA-HC-7211-01A-11D-2114-08	TCGA-HC-7211-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff8ce081-3108-487c-afd1-a46bcae93fd2	47da9ef1-cc95-44f3-8566-406eb118835a	g.chr14:105420975C>A	ENST00000333244.5	-	7	932	c.813G>T	c.(811-813)cgG>cgT	p.R271R	AHNAK2_ENST00000557457.1_5'Flank	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	271						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GTCCCGGCCCCCGCTTGCTCT	0.582																																						ENST00000333244.5																			0				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33						c.(811-813)cgG>cgT		AHNAK nucleoprotein 2							30	33	32					14																	105420975		1978	4132	6110	SO:0001819	synonymous_variant	113146					nucleus		g.chr14:105420975C>A	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"chromosome 14 open reading frame 78"	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.813G>T	14.37:g.105420975C>A							p.R271R	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)		7	932	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	271					Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Silent	SNP	ENST00000333244.5	37	c.813G>T	CCDS45177.1																																																																																				0.582	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		7	19	1	0	1.12685e-05	1	1.17104e-05	7	19					A	105420975	C	A	105420975	2	1	203	1	0	0	0	0	0	0	0	1	415	610	22	5		5	AHNAK2	14	105420975	Silent	SNP	C	TCGA-HC-7211-01A-11D-2114-08		105420975	1928565	17	9355											
FBN1	2200	broad.mit.edu	37	chr15	48905245	48905245	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	cgccaggtaaggttttccatCcagggcaacagtaagcatta	12	9	10	10	1	0	0	0	0	0	0	2	0	2	0	3	3	2	5	3	3	4	5			TCGA-HC-7211-01A-11D-2114-08	TCGA-HC-7211-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff8ce081-3108-487c-afd1-a46bcae93fd2	47da9ef1-cc95-44f3-8566-406eb118835a	g.chr15:48905245C>G	ENST00000316623.5	-	3	664	c.209G>C	c.(208-210)gGa>gCa	p.G70A		NM_000138.4	NP_000129	P35555	FBN1_HUMAN	fibrillin 1	70					extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|kidney development (GO:0001822)|sequestering of BMP in extracellular matrix (GO:0035582)|sequestering of TGFbeta in extracellular matrix (GO:0035583)|skeletal system development (GO:0001501)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		GGTTTTCCATCCAGGGCAACA	0.383																																						ENST00000316623.5																			0				NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139						c.(208-210)gGa>gCa		fibrillin 1							146	142	144					15																	48905245		2197	4296	6493	SO:0001583	missense	2200				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding	g.chr15:48905245C>G	X63556	CCDS32232.1	15q21.1	2014-09-17	2006-04-25			ENSG00000166147			3603	protein-coding gene	gene with protein product	"Marfan syndrome"	134797	"fibrillin 1 (Marfan syndrome)"	FBN, MFS1, WMS		10036187, 12525539	Standard	NM_000138		Approved	MASS, OCTD, SGS	uc001zwx.2	P35555		ENST00000316623.5:c.209G>C	15.37:g.48905245C>G	ENSP00000325527:p.Gly70Ala						p.G70A	NM_000138.4	NP_000129.3	P35555	FBN1_HUMAN		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)	3	664	-		all_lung(180;0.00279)	70					B2RUU0|D2JYH6|Q15972|Q75N87	Missense_Mutation	SNP	ENST00000316623.5	37	c.209G>C	CCDS32232.1	.	.	.	.	.	.	.	.	.	.	C	30	5.051077	0.93740	.	.	ENSG00000166147	ENST00000316623;ENST00000544030;ENST00000537463	D;T	0.88124	-2.34;-0.25	5.12	5.12	0.69794	.	0.000000	0.85682	D	0.000000	D	0.94971	0.8373	M	0.91972	3.26	0.80722	D	1	D	0.76494	0.999	D	0.81914	0.995	D	0.95571	0.8638	10	0.66056	D	0.02	.	18.742	0.91777	0.0:1.0:0.0:0.0	.	70	P35555	FBN1_HUMAN	A	70	ENSP00000325527:G70A;ENSP00000440294:G70A	ENSP00000325527:G70A	G	-	2	0	FBN1	46692537	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.227000	0.78070	2.662000	0.90505	0.591000	0.81541	GGA		0.383	FBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417355.1			15	134	0	0	0	1	0	15	134					G	48905245	C	G	48905245	3	3	203	1	0	0	0	0	1	0	0	0	5702	855	30	5	8662	5	FBN1	15	48905245	Missense_Mutation	SNP	C	TCGA-HC-7211-01A-11D-2114-08		48905245	53626147	18	9356											
ALDH3A1	218	broad.mit.edu	37	chr17	19648303	19648303	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtgcaggtctgcggccagcGcgcccaccagctcctgctcc	4	7	12	18	3	1	0	0	0	1	0	3	0	3	0	5	2	5	3	5	2	0	0			TCGA-HC-7211-01A-11D-2114-08	TCGA-HC-7211-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff8ce081-3108-487c-afd1-a46bcae93fd2	47da9ef1-cc95-44f3-8566-406eb118835a	g.chr17:19648303G>C	ENST00000457500.2	-	1	469	c.140C>G	c.(139-141)gCg>gGg	p.A47G	ALDH3A1_ENST00000395555.3_Missense_Mutation_p.A47G|ALDH3A1_ENST00000494157.2_Intron|ALDH3A1_ENST00000444455.1_Missense_Mutation_p.A47G|ALDH3A1_ENST00000485231.1_Intron|ALDH3A1_ENST00000225740.6_Missense_Mutation_p.A47G	NM_001135168.1	NP_001128640.1	P30838	AL3A1_HUMAN	aldehyde dehydrogenase 3 family, member A1	47					aging (GO:0007568)|cellular aldehyde metabolic process (GO:0006081)|oxidation-reduction process (GO:0055114)|positive regulation of cell proliferation (GO:0008284)|response to cAMP (GO:0051591)|response to drug (GO:0042493)|response to glucocorticoid (GO:0051384)|response to hypoxia (GO:0001666)|response to nutrient (GO:0007584)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	3-chloroallyl aldehyde dehydrogenase activity (GO:0004028)|alcohol dehydrogenase (NADP+) activity (GO:0008106)|aldehyde dehydrogenase (NAD) activity (GO:0004029)|aldehyde dehydrogenase [NAD(P)+] activity (GO:0004030)			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|urinary_tract(1)	13	all_cancers(12;4.01e-05)|all_epithelial(12;0.00301)|Breast(13;0.186)			Colorectal(15;0.0829)		TGCGGCCAGCGCGCCCACCAG	0.716																																						ENST00000457500.2																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|urinary_tract(1)	13						c.(139-141)gCg>gGg		aldehyde dehydrogenase 3 family, member A1	NADH(DB00157)						5	6	6					17																	19648303		1870	3824	5694	SO:0001583	missense	218				cellular aldehyde metabolic process	cytosol|endoplasmic reticulum	alcohol dehydrogenase (NADP+) activity|aldehyde dehydrogenase|aldehyde dehydrogenase (NAD) activity	g.chr17:19648303G>C	M74542	CCDS11212.1	17p11.2	2010-05-07	2010-05-07		ENSG00000108602	ENSG00000108602	1.2.1.5	"Aldehyde dehydrogenases"	405	protein-coding gene	gene with protein product	"aldehyde dehydrogenase, dimeric NADP-preferring"	100660		ALDH3		7774944, 1737758	Standard	NM_000691		Approved		uc010cqu.3	P30838	OTTHUMG00000059469	ENST00000457500.2:c.140C>G	17.37:g.19648303G>C	ENSP00000411821:p.Ala47Gly					ALDH3A1_ENST00000225740.6_Missense_Mutation_p.A47G|ALDH3A1_ENST00000395555.3_Missense_Mutation_p.A47G|ALDH3A1_ENST00000485231.1_Intron|ALDH3A1_ENST00000444455.1_Missense_Mutation_p.A47G|ALDH3A1_ENST00000494157.2_Intron	p.A47G	NM_001135168.1	NP_001128640.1	P30838	AL3A1_HUMAN		Colorectal(15;0.0829)	1	469	-	all_cancers(12;4.01e-05)|all_epithelial(12;0.00301)|Breast(13;0.186)		47					A8K828|Q9BT37	Missense_Mutation	SNP	ENST00000457500.2	37	c.140C>G	CCDS11212.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.310738	0.81358	.	.	ENSG00000108602	ENST00000225740;ENST00000395555;ENST00000379258;ENST00000444455;ENST00000457500;ENST00000439102;ENST00000426645	T;T;T;T;T	0.77229	-1.08;-1.08;-1.08;-1.08;-1.08	4.38	4.38	0.52667	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, N-terminal (1);Aldehyde/histidinol dehydrogenase (1);	.	.	.	.	D	0.92704	0.7681	H	0.98883	4.36	0.80722	D	1	D;D	0.63046	0.992;0.992	D;D	0.71870	0.975;0.975	D	0.95577	0.8643	9	0.62326	D	0.03	.	15.979	0.80091	0.0:0.0:1.0:0.0	.	47;47	A8K828;P30838	.;AL3A1_HUMAN	G	47;47;105;47;47;47;47	ENSP00000225740:A47G;ENSP00000378923:A47G;ENSP00000388469:A47G;ENSP00000411821:A47G;ENSP00000389766:A47G	ENSP00000225740:A47G	A	-	2	0	ALDH3A1	19588895	1.000000	0.71417	0.041000	0.18516	0.012000	0.07955	7.148000	0.77389	2.013000	0.59113	0.460000	0.39030	GCG		0.716	ALDH3A1-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132265.4	NM_000691		3	16	0	0	0	1	0	3	16					C	19648303	G	C	19648303	3	2	203	1	0	0	0	0	1	0	0	0	497	1087	38	5	1261	5	ALDH3A1	17	19648303	Missense_Mutation	SNP	G	TCGA-HC-7211-01A-11D-2114-08		19648303	61546907	19	9357											
PEX12	5193	broad.mit.edu	37	chr17	33903106	33903107	+	Frame_Shift_Ins	INS	-	-	C																															taccaccagtcaaggaactgINScaagaagaatacacccacag																										TCGA-HC-7211-01A-11D-2114-08	TCGA-HC-7211-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff8ce081-3108-487c-afd1-a46bcae93fd2	47da9ef1-cc95-44f3-8566-406eb118835a	g.chr17:33903106_33903107insC	ENST00000225873.4	-	3	1381_1382	c.774_775insG	c.(772-777)ttgcagfs	p.Q259fs	RP11-1094M14.11_ENST00000592381.1_lincRNA|SNORD7_ENST00000384567.1_RNA	NM_000286.2	NP_000277.1	O00623	PEX12_HUMAN	peroxisomal biogenesis factor 12	259					peroxisome organization (GO:0007031)|protein import into peroxisome matrix (GO:0016558)|protein targeting to peroxisome (GO:0006625)	integral component of peroxisomal membrane (GO:0005779)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	protein C-terminus binding (GO:0008022)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(1)|lung(8)	18				UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		TCAAGGAACTGCAAGAAGAATA	0.465																																						ENST00000225873.4																			0				cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(1)|lung(8)	18						c.(772-777)ttagttfs		peroxisomal biogenesis factor 12																																				SO:0001589	frameshift_variant	5193				protein import into peroxisome matrix	integral to peroxisomal membrane	protein C-terminus binding|zinc ion binding	g.chr17:33903106_33903107insC	U91521	CCDS11296.1	17q21.1	2011-02-10			ENSG00000108733	ENSG00000108733			8854	protein-coding gene	gene with protein product		601758				9090384	Standard	NM_000286		Approved		uc002hjp.3	O00623	OTTHUMG00000132951	ENST00000225873.4:c.775dupG	17.37:g.33903107_33903107dupC	ENSP00000225873:p.Gln259fs						p.V259fs	NM_000286.2	NP_000277.1	O00623	PEX12_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)	3	1381_1382	-			259					B2R6M2	Frame_Shift_Ins	INS	ENST00000225873.4	37	c.774_775insG	CCDS11296.1																																																																																				0.465	PEX12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256489.2	NM_000286		56	92						56	92	---	---	---	---	C	33903107	-	C	33903106	7	5	203	1	0	1	1	0	0	0	0	0	11740	1328	46	0	308	0	PEX12	17	33903106	Frame_Shift_Ins	INS	-	TCGA-HC-7211-01A-11D-2114-08	14254803	33903106	47292104	20	9358											
GAS2L2	246176	broad.mit.edu	37	chr17	34072984	34072984	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccttcctggtgttggggggCgagcagggggcagccggatg	4	8	20	9	2	0	0	0	0	0	0	2	2	2	1	3	7	2	3	3	7	0	2	rs144024552		TCGA-HC-7211-01A-11D-2114-08	TCGA-HC-7211-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff8ce081-3108-487c-afd1-a46bcae93fd2	47da9ef1-cc95-44f3-8566-406eb118835a	g.chr17:34072984C>T	ENST00000254466.6	-	6	1559	c.1532G>A	c.(1531-1533)cGc>cAc	p.R511H	GAS2L2_ENST00000587565.1_Missense_Mutation_p.R495H	NM_139285.3	NP_644814.1	Q8NHY3	GA2L2_HUMAN	growth arrest-specific 2 like 2	511					cell cycle arrest (GO:0007050)|microtubule bundle formation (GO:0001578)|negative regulation of microtubule depolymerization (GO:0007026)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	actin filament binding (GO:0051015)|cytoskeletal adaptor activity (GO:0008093)|microtubule binding (GO:0008017)			central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		TGTTGGGGGGCGAGCAGGGGG	0.607													C|||	1	0.000199681	8e-04	0	5008	,	,		19127	0		0	False		,,,				2504	0					ENST00000254466.6																			0				central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						c.(1531-1533)cGc>cAc		growth arrest-specific 2 like 2		C	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	41	47	45		1532	-0.2	0	17	dbSNP_134	45	0,8600		0,0,4300	no	missense	GAS2L2	NM_139285.3	29	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign	511/881	34072984	1,13005	2203	4300	6503	SO:0001583	missense	246176				cell cycle arrest	cytoplasm|cytoskeleton		g.chr17:34072984C>T	AF508784	CCDS11298.1	17q21	2014-05-06			ENSG00000132139	ENSG00000270765			24846	protein-coding gene	gene with protein product		611398				12584248	Standard	NM_139285		Approved	GAR17	uc002hjv.2	Q8NHY3	OTTHUMG00000188386	ENST00000254466.6:c.1532G>A	17.37:g.34072984C>T	ENSP00000254466:p.Arg511His					GAS2L2_ENST00000587565.1_Missense_Mutation_p.R495H	p.R511H	NM_139285.3	NP_644814.1	Q8NHY3	GA2L2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)	6	1559	-		Ovarian(249;0.17)	511					Q8NHY4	Missense_Mutation	SNP	ENST00000254466.6	37	c.1532G>A	CCDS11298.1	.	.	.	.	.	.	.	.	.	.	C	10.26	1.302431	0.23736	2.27E-4	0.0	ENSG00000132139	ENST00000254466	T	0.20598	2.06	5.19	-0.158	0.13383	.	1.148570	0.06249	N	0.691803	T	0.13927	0.0337	N	0.17082	0.46	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.35251	-0.9796	10	0.36615	T	0.2	-0.0957	10.134	0.42695	0.0:0.6882:0.0:0.3118	.	511	Q8NHY3	GA2L2_HUMAN	H	511	ENSP00000254466:R511H	ENSP00000254466:R511H	R	-	2	0	GAS2L2	31097097	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.691000	0.00830	-0.109000	0.12044	-0.940000	0.02684	CGC		0.607	GAS2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256497.1	NM_139285		26	77	0	0	0	1	0	26	77					T	34072984	C	T	34072984	3	4	203	1	0	0	0	0	1	0	0	0	6247	768	27	1	1114	1	GAS2L2	17	34072984	Missense_Mutation	SNP	C	TCGA-HC-7211-01A-11D-2114-08	169878	34072984	47122226	21	9359											
FEM1A	55527	broad.mit.edu	37	chr19	4791992	4791992	+	Frame_Shift_Del	DEL	A	A	-																															ggcgaggtggccggcgggggAacgccgctactcatcgccgc																										TCGA-HC-7211-01A-11D-2114-08	TCGA-HC-7211-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff8ce081-3108-487c-afd1-a46bcae93fd2	47da9ef1-cc95-44f3-8566-406eb118835a	g.chr19:4791992delA	ENST00000269856.3	+	1	265	c.126delA	c.(124-126)ggafs	p.G42fs	AC005523.3_ENST00000598782.1_lincRNA|AC005523.2_ENST00000601192.1_RNA	NM_018708.2	NP_061178.1	Q9BSK4	FEM1A_HUMAN	fem-1 homolog a (C. elegans)	42					negative regulation of inflammatory response (GO:0050728)|regulation of ubiquitin-protein transferase activity (GO:0051438)	cytoplasm (GO:0005737)	EP4 subtype prostaglandin E2 receptor binding (GO:0031867)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	17		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0139)		CCGGCGGGGGAACGCCGCTAC	0.721																																						ENST00000269856.3																			0				breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	17						c.(124-126)ggfs		fem-1 homolog a (C. elegans)							3	3	3					19																	4791992		1824	3682	5506	SO:0001589	frameshift_variant	55527				regulation of ubiquitin-protein ligase activity	cytoplasm	binding|ubiquitin-protein ligase activity	g.chr19:4791992delA	BC004988	CCDS12135.1	19p13.3	2013-01-10	2006-11-08		ENSG00000141965	ENSG00000141965		"Ankyrin repeat domain containing"	16934	protein-coding gene	gene with protein product		613538				11441184	Standard	NM_018708		Approved		uc002mbf.3	Q9BSK4		ENST00000269856.3:c.126delA	19.37:g.4791992delA	ENSP00000269856:p.Gly42fs					AC005523.2_ENST00000601192.1_RNA	p.G42fs	NM_018708.2	NP_061178.1	Q9BSK4	FEM1A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0139)	1	265	+		Hepatocellular(1079;0.137)	42					B2RDI3|Q711P8|Q9NPN7|Q9NPW8	Frame_Shift_Del	DEL	ENST00000269856.3	37	c.126delA	CCDS12135.1																																																																																				0.721	FEM1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459000.1			2	4						2	4	---	---	---	---	-	4791992	A	-	4791992	7	5	203	1	0	1	0	1	0	0	0	0	5809	233	9	0	128	0	FEM1A	19	4791992	Frame_Shift_Del	DEL	A	TCGA-HC-7211-01A-11D-2114-08		4791992	54336991	22	9360											
RPL28	6158	broad.mit.edu	37	chr19	55898050	55898050	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aggtgtcgtggtggtcattaAgcggagatccggtgagtttt	7	13	16	5	3	1	2	1	1	0	1	3	3	2	2	1	5	1	1	1	5	1	3			TCGA-HC-7211-01A-11D-2114-08	TCGA-HC-7211-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff8ce081-3108-487c-afd1-a46bcae93fd2	47da9ef1-cc95-44f3-8566-406eb118835a	g.chr19:55898050A>T	ENST00000344063.2	+	3	823	c.194A>T	c.(193-195)aAg>aTg	p.K65M	RPL28_ENST00000560583.1_Missense_Mutation_p.K65M|RPL28_ENST00000431533.2_Missense_Mutation_p.K65M|RPL28_ENST00000558752.1_Missense_Mutation_p.K65M|RPL28_ENST00000560055.1_Missense_Mutation_p.K65M|RPL28_ENST00000558815.1_Missense_Mutation_p.K65M|TMEM238_ENST00000444469.3_5'Flank|RPL28_ENST00000559463.1_Missense_Mutation_p.K65M|RPL28_ENST00000458349.2_Missense_Mutation_p.K65M|RPL28_ENST00000428193.2_Missense_Mutation_p.K65M|RPL28_ENST00000558131.1_Intron			P46779	RL28_HUMAN	ribosomal protein L28	65					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cell body (GO:0044297)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			endometrium(1)|kidney(2)|large_intestine(2)|lung(1)	6	Breast(117;0.191)	Renal(1328;0.245)	LUSC - Lung squamous cell carcinoma(43;0.13)|BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0443)		GTGGTCATTAAGCGGAGATCC	0.577																																						ENST00000344063.2																			0				endometrium(1)|kidney(2)|large_intestine(2)|lung(1)	6						c.(193-195)aAg>aTg		ribosomal protein L28							102	109	107					19																	55898050		2203	4300	6503	SO:0001583	missense	6158				endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	protein binding|RNA binding|structural constituent of ribosome	g.chr19:55898050A>T	U14969	CCDS12924.1, CCDS46189.1, CCDS46190.1, CCDS46191.1, CCDS46192.1	19q13.4	2011-04-06				ENSG00000108107		"L ribosomal proteins"	10330	protein-coding gene	gene with protein product	"60S ribosomal protein L28"	603638				7772601, 9582194	Standard	NM_001136134		Approved	FLJ43307, L28	uc010yga.2	P46779		ENST00000344063.2:c.194A>T	19.37:g.55898050A>T	ENSP00000342787:p.Lys65Met					RPL28_ENST00000431533.2_Missense_Mutation_p.K65M|RPL28_ENST00000559463.1_Missense_Mutation_p.K65M|RPL28_ENST00000558752.1_Missense_Mutation_p.K65M|RPL28_ENST00000558131.1_Intron|RPL28_ENST00000560583.1_Missense_Mutation_p.K65M|RPL28_ENST00000560055.1_Missense_Mutation_p.K65M|RPL28_ENST00000458349.2_Missense_Mutation_p.K65M|RPL28_ENST00000428193.2_Missense_Mutation_p.K65M|RPL28_ENST00000558815.1_Missense_Mutation_p.K65M	p.K65M			P46779	RL28_HUMAN	LUSC - Lung squamous cell carcinoma(43;0.13)|BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0443)	3	823	+	Breast(117;0.191)	Renal(1328;0.245)	65					B2R4A6|B4DEP9|C9JB50|E9PB24|G5E9L2|Q6IAY0|Q96FX1|Q9BWQ0	Missense_Mutation	SNP	ENST00000344063.2	37	c.194A>T	CCDS12924.1	.	.	.	.	.	.	.	.	.	.	A	22.2	4.259343	0.80246	.	.	ENSG00000108107	ENST00000344063;ENST00000426763;ENST00000428193;ENST00000431533;ENST00000458349	T;T;T;T	0.59906	0.23;0.23;0.23;0.23	3.21	3.21	0.36854	.	0.000000	0.85682	U	0.000000	T	0.79799	0.4508	M	0.94142	3.5	0.58432	D	0.999999	D;D;D;D;D	0.89917	1.0;1.0;0.999;1.0;1.0	D;D;D;D;D	0.81914	0.992;0.995;0.964;0.983;0.994	D	0.83810	0.0241	10	0.87932	D	0	.	10.1188	0.42607	1.0:0.0:0.0:0.0	.	65;65;65;65;65	B4DEP9;E9PB24;C9JB50;G5E9L2;P46779	.;.;.;.;RL28_HUMAN	M	65	ENSP00000342787:K65M;ENSP00000391665:K65M;ENSP00000400596:K65M;ENSP00000401450:K65M	ENSP00000342787:K65M	K	+	2	0	RPL28	60589862	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	6.027000	0.70881	1.717000	0.51406	0.459000	0.35465	AAG		0.577	RPL28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416277.2	NM_000991		47	113	0	0	0	1	0	47	113					T	55898050	A	T	55898050	3	4	203	1	0	0	0	0	1	0	0	0	13577	72	3	5	200	5	RPL28	19	55898050	Missense_Mutation	SNP	A	TCGA-HC-7211-01A-11D-2114-08	51106058	55898050	3230933	23	9361											
ENTPD6	955	broad.mit.edu	37	chr20	25201904	25201904	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gttggtcagcccttgcttgtCtcccagtttcaaaggagagt	7	13	11	10	0	3	1	2	0	1	1	4	2	3	1	2	2	2	3	2	2	1	4			TCGA-HC-7211-01A-11D-2114-08	TCGA-HC-7211-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff8ce081-3108-487c-afd1-a46bcae93fd2	47da9ef1-cc95-44f3-8566-406eb118835a	g.chr20:25201904C>T	ENST00000376652.4	+	11	1143	c.980C>T	c.(979-981)tCt>tTt	p.S327F	ENTPD6_ENST00000354989.5_Missense_Mutation_p.S310F|ENTPD6_ENST00000433259.2_Intron|ENTPD6_ENST00000360031.2_Missense_Mutation_p.S326F			O75354	ENTP6_HUMAN	ectonucleoside triphosphate diphosphohydrolase 6 (putative)	327					response to calcium ion (GO:0051592)|response to magnesium ion (GO:0032026)	cell surface (GO:0009986)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	guanosine-5'-triphosphate,3'-diphosphate diphosphatase activity (GO:0008894)|nucleoside-triphosphatase activity (GO:0017111)|uridine-diphosphatase activity (GO:0045134)			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|prostate(1)|skin(1)	27						CCTTGCTTGTCTCCCAGTTTC	0.512																																						ENST00000360031.2																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|prostate(1)|skin(1)	27						c.(976-978)tCt>tTt		ectonucleoside triphosphate diphosphohydrolase 6 (putative)							155	136	143					20																	25201904		2203	4300	6503	SO:0001583	missense	0					Golgi membrane|integral to membrane	nucleoside-diphosphatase activity	g.chr20:25201904C>T	AF039916	CCDS13170.1, CCDS46586.1	20p11.21	2010-06-24	2010-06-24		ENSG00000197586	ENSG00000197586			3368	protein-coding gene	gene with protein product		603160	"interleukin 6 signal transducer-2"	CD39L2, IL6ST2		9676430	Standard	NM_001247		Approved	NTPDase-6, dJ738P15.3	uc002wuj.2	O75354	OTTHUMG00000032116	ENST00000376652.4:c.980C>T	20.37:g.25201904C>T	ENSP00000365840:p.Ser327Phe					ENTPD6_ENST00000433259.2_Intron|ENTPD6_ENST00000376652.4_Missense_Mutation_p.S327F|ENTPD6_ENST00000354989.5_Missense_Mutation_p.S310F	p.S326F	NM_001247.2	NP_001238.2	O75354	ENTP6_HUMAN			11	1159	+			327					A6NCX6|D3DW49|Q5QPJ2|Q5QPJ5|Q7Z5B5|Q8N3H3|Q8TAS7|Q9UJD1	Missense_Mutation	SNP	ENST00000376652.4	37	c.977C>T	CCDS13170.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.04|19.04	3.750248|3.750248	0.69533|0.69533	.|.	.|.	ENSG00000197586|ENSG00000197586	ENST00000433417|ENST00000354989;ENST00000360031;ENST00000525986;ENST00000376641;ENST00000376652;ENST00000425813	.|T;T;T;T	.|0.10668	.|2.85;2.85;2.85;2.85	5.64|5.64	4.69|4.69	0.59074|0.59074	.|.	.|0.537042	.|0.21923	.|N	.|0.067130	T|T	0.23572|0.23572	0.0570|0.0570	L|L	0.55213|0.55213	1.73|1.73	0.80722|0.80722	D|D	1|1	.|P;P;P;P;P;P;P	.|0.52463	.|0.923;0.923;0.953;0.831;0.916;0.897;0.897	.|P;P;P;P;P;P;P	.|0.57009	.|0.722;0.722;0.652;0.712;0.811;0.581;0.581	T|T	0.00634|0.00634	-1.1634|-1.1634	5|10	.|0.59425	.|D	.|0.04	-2.7207|-2.7207	14.0297|14.0297	0.64609|0.64609	0.0:0.8487:0.1513:0.0|0.0:0.8487:0.1513:0.0	.|.	.|309;327;327;310;326;326;327	.|B4DDM7;B4DNK6;E7EP89;O75354-2;D3DW49;Q5QPJ2;O75354	.|.;.;.;.;.;.;ENTP6_HUMAN	F|F	248|310;326;247;223;327;279	.|ENSP00000347084:S310F;ENSP00000353131:S326F;ENSP00000365840:S327F;ENSP00000390646:S279F	.|ENSP00000347084:S310F	L|S	+|+	1|2	0|0	ENTPD6|ENTPD6	25149904|25149904	0.537000|0.537000	0.26386|0.26386	0.003000|0.003000	0.11579|0.11579	0.982000|0.982000	0.71751|0.71751	4.296000|4.296000	0.59055|0.59055	1.515000|1.515000	0.48885|0.48885	0.561000|0.561000	0.74099|0.74099	CTC|TCT		0.512	ENTPD6-020	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078414.2			20	43	0	0	0	1	0	20	43					T	25201904	C	T	25201904	3	4	203	1	0	0	0	0	1	0	0	0	5143	913	32	3	1025	3	ENTPD6	20	25201904	Missense_Mutation	SNP	C	TCGA-HC-7211-01A-11D-2114-08		25201904	37823616	24	9362											
MED15	51586	broad.mit.edu	37	chr22	20922879	20922879	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cagcagcagacagcagtacaGacagctcaggctgcccagat	13	4	11	13	0	1	3	1	0	0	3	1	3	1	3	1	1	6	6	1	1	1	1			TCGA-HC-7211-01A-11D-2114-08	TCGA-HC-7211-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff8ce081-3108-487c-afd1-a46bcae93fd2	47da9ef1-cc95-44f3-8566-406eb118835a	g.chr22:20922879G>C	ENST00000263205.7	+	8	1182	c.1113G>C	c.(1111-1113)caG>caC	p.Q371H	MED15_ENST00000382974.2_Missense_Mutation_p.Q300H|MED15_ENST00000425759.2_Missense_Mutation_p.Q260H|MED15_ENST00000292733.7_Missense_Mutation_p.Q371H|MED15_ENST00000541476.1_Missense_Mutation_p.Q345H|MED15_ENST00000406969.1_Missense_Mutation_p.Q345H|MED15_ENST00000542773.1_Missense_Mutation_p.Q176H|MED15_ENST00000478831.1_3'UTR	NM_001003891.1	NP_001003891.1	Q96RN5	MED15_HUMAN	mediator complex subunit 15	371	Pro-rich.				gene expression (GO:0010467)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	RNA polymerase II transcription cofactor activity (GO:0001104)			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	25	all_cancers(11;2.07e-24)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)|Epithelial(17;0.209)			CAGCAGTACAGACAGCTCAGG	0.617																																						ENST00000263205.7																			0				central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	25						c.(1111-1113)caG>caC		mediator complex subunit 15							33	34	34					22																	20922879		2202	4300	6502	SO:0001583	missense	51586				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|mediator complex	protein binding	g.chr22:20922879G>C	AF056191	CCDS13781.1, CCDS33602.1, CCDS74824.1	22q11.2	2007-07-30	2007-07-30	2007-07-30	ENSG00000099917	ENSG00000099917			14248	protein-coding gene	gene with protein product		607372	"trinucleotide repeat containing 7", "PC2 (positive cofactor 2, multiprotein complex) glutamine/Q-rich-associated protein"	TNRC7, PCQAP		11024300, 11414760, 15175163	Standard	XM_005261632		Approved	TIG-1, CAG7A, Arc105	uc002zsp.3	Q96RN5	OTTHUMG00000150810	ENST00000263205.7:c.1113G>C	22.37:g.20922879G>C	ENSP00000263205:p.Gln371His					MED15_ENST00000292733.7_Missense_Mutation_p.Q371H|MED15_ENST00000542773.1_Missense_Mutation_p.176_176insH|MED15_ENST00000382974.2_Missense_Mutation_p.Q300H|MED15_ENST00000541476.1_Missense_Mutation_p.Q345H|MED15_ENST00000425759.2_Missense_Mutation_p.Q260H|MED15_ENST00000478831.1_3'UTR|MED15_ENST00000406969.1_Missense_Mutation_p.Q345H	p.Q371H	NM_001003891.1	NP_001003891.1	Q96RN5	MED15_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)|Epithelial(17;0.209)		8	1182	+	all_cancers(11;2.07e-24)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	371			Pro-rich.		D3DX31|D3DX32|O15413|Q6IC31|Q8NF16|Q96CT0|Q96IH7|Q9P1T3	Missense_Mutation	SNP	ENST00000263205.7	37	c.1113G>C	CCDS33602.1	.	.	.	.	.	.	.	.	.	.	G	13.61	2.288651	0.40494	.	.	ENSG00000099917	ENST00000425759;ENST00000292733;ENST00000542773;ENST00000263205;ENST00000406969;ENST00000382974;ENST00000541476;ENST00000542312	D;D;D	0.84516	-1.86;-1.86;-1.86	5.92	1.3	0.21679	Mediator complex, subunit Med15, metazoa (1);	0.229569	0.45361	D	0.000372	T	0.76506	0.3997	L	0.39898	1.24	0.24601	N	0.993773	P;P;P;P;P	0.43231	0.527;0.527;0.471;0.471;0.801	P;P;B;B;P	0.44518	0.452;0.452;0.323;0.323;0.452	T	0.67035	-0.5772	10	0.45353	T	0.12	.	2.1629	0.03829	0.1748:0.1525:0.515:0.1577	.	317;390;345;371;371	B4DGD6;Q6PKB8;G3V1P5;Q96RN5-2;Q96RN5	.;.;.;.;MED15_HUMAN	H	260;371;176;371;345;300;345;317	ENSP00000292733:Q371H;ENSP00000384344:Q345H;ENSP00000443137:Q345H	ENSP00000263205:Q371H	Q	+	3	2	MED15	19252879	0.949000	0.32298	0.911000	0.35937	0.711000	0.40976	0.183000	0.16919	0.067000	0.16545	0.655000	0.94253	CAG		0.617	MED15-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000320177.2	NM_015889		12	42	0	0	0	1	0	12	42					C	20922879	G	C	20922879	3	2	203	1	0	0	0	0	1	0	0	0	9433	933	33	5	1143	5	MED15	22	20922879	Missense_Mutation	SNP	G	TCGA-HC-7211-01A-11D-2114-08		20922879	30381687	25	9363											
SLC2A7	155184	broad.mit.edu	37	chr1	9085108	9085108	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caaaggccgcgctcagtgtcGccagcaacagcgtcggctgg	8	5	14	14	5	1	0	1	0	0	0	3	0	1	0	2	3	3	3	2	3	2	0			TCGA-HC-7212-01A-11D-2114-08	TCGA-HC-7212-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41815e8f-0332-4826-90c9-ee944f3887a0	4bbff9a5-b19a-4c1c-ae0f-dba68d92e01c	g.chr1:9085108G>A	ENST00000400906.1	-	2	76	c.77C>T	c.(76-78)gCg>gTg	p.A26V		NM_207420.2	NP_997303.2	Q6PXP3	GTR7_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 7	26					carbohydrate transport (GO:0008643)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	substrate-specific transmembrane transporter activity (GO:0022891)			NS(1)|breast(1)|endometrium(4)|large_intestine(10)|lung(4)|prostate(2)|skin(2)	24	Ovarian(185;0.112)|all_lung(157;0.185)	all_epithelial(116;1.34e-15)|all_lung(118;9.46e-05)|Lung NSC(185;0.000172)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.00715)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.04e-07)|COAD - Colon adenocarcinoma(227;7.66e-05)|Kidney(185;0.000249)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.00177)|BRCA - Breast invasive adenocarcinoma(304;0.00185)|READ - Rectum adenocarcinoma(331;0.0642)		GCTCAGTGTCGCCAGCAACAG	0.647																																						ENST00000400906.1																			0				NS(1)|breast(1)|endometrium(4)|large_intestine(10)|lung(4)|prostate(2)|skin(2)	24						c.(76-78)gCg>gTg		solute carrier family 2 (facilitated glucose transporter), member 7							38	38	38					1																	9085108		2203	4300	6503	SO:0001583	missense	155184					integral to membrane|plasma membrane	sugar transmembrane transporter activity	g.chr1:9085108G>A	AL356306	CCDS98.2	1p36.2	2013-05-22			ENSG00000197241	ENSG00000197241		"Solute carriers"	13445	protein-coding gene	gene with protein product	"intestinal facilitative glucose transporter 7"	610371				11780753	Standard	NM_207420		Approved	GLUT7	uc009vmo.1	Q6PXP3	OTTHUMG00000057499	ENST00000400906.1:c.77C>T	1.37:g.9085108G>A	ENSP00000383698:p.Ala26Val						p.A26V	NM_207420.2	NP_997303.2	Q6PXP3	GTR7_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.04e-07)|COAD - Colon adenocarcinoma(227;7.66e-05)|Kidney(185;0.000249)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.00177)|BRCA - Breast invasive adenocarcinoma(304;0.00185)|READ - Rectum adenocarcinoma(331;0.0642)	2	76	-	Ovarian(185;0.112)|all_lung(157;0.185)	all_epithelial(116;1.34e-15)|all_lung(118;9.46e-05)|Lung NSC(185;0.000172)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.00715)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)	26					A2A333	Missense_Mutation	SNP	ENST00000400906.1	37	c.77C>T	CCDS98.2	.	.	.	.	.	.	.	.	.	.	G	11.12	1.544318	0.27563	.	.	ENSG00000197241	ENST00000400906	T	0.59224	0.28	4.33	1.28	0.21552	Major facilitator superfamily domain, general substrate transporter (1);	0.437130	0.21383	N	0.075421	T	0.38585	0.1046	L	0.38733	1.17	0.20196	N	0.999921	B	0.27380	0.177	B	0.22601	0.04	T	0.16158	-1.0412	10	0.38643	T	0.18	.	3.648	0.08192	0.2781:0.0:0.5412:0.1807	.	26	Q6PXP3	GTR7_HUMAN	V	26	ENSP00000383698:A26V	ENSP00000383698:A26V	A	-	2	0	SLC2A7	9007695	0.996000	0.38824	0.018000	0.16275	0.010000	0.07245	3.087000	0.50167	0.446000	0.26666	0.462000	0.41574	GCG		0.647	SLC2A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127768.3	NM_207420		3	36	0	0	0	1	0	3	36					A	9085108	G	A	9085108	3	1	204	1	0	0	0	0	1	0	0	0	14550	1087	38	1	1505	1	SLC2A7	1	9085108	Missense_Mutation	SNP	G	TCGA-HC-7212-01A-11D-2114-08		9085108	240165513	1	9364											
VPS13D	55187	broad.mit.edu	37	chr1	12331156	12331156	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaaatccggcaaactcttgAtcgtttgctagtgggtgatt	10	13	11	7	2	1	3	0	2	1	1	3	3	2	3	1	2	2	3	1	2	3	4			TCGA-HC-7212-01A-11D-2114-08	TCGA-HC-7212-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41815e8f-0332-4826-90c9-ee944f3887a0	4bbff9a5-b19a-4c1c-ae0f-dba68d92e01c	g.chr1:12331156A>G	ENST00000358136.3	+	17	2208	c.2078A>G	c.(2077-2079)gAt>gGt	p.D693G	VPS13D_ENST00000356315.4_Missense_Mutation_p.D693G	NM_015378.2	NP_056193.2			vacuolar protein sorting 13 homolog D (S. cerevisiae)											NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		CAAACTCTTGATCGTTTGCTA	0.468																																						ENST00000358136.3																			0				NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130						c.(2077-2079)gAt>gGt		vacuolar protein sorting 13 homolog D (S. cerevisiae)							101	94	96					1																	12331156		2203	4300	6503	SO:0001583	missense	55187				protein localization			g.chr1:12331156A>G	AJ608774	CCDS30588.1, CCDS30589.1	1p36.21	2008-02-05	2006-04-04		ENSG00000048707	ENSG00000048707			23595	protein-coding gene	gene with protein product		608877	"vacuolar protein sorting 13D (yeast)"				Standard	NM_015378		Approved	FLJ10619, KIAA0453	uc001atv.3	Q5THJ4	OTTHUMG00000013155	ENST00000358136.3:c.2078A>G	1.37:g.12331156A>G	ENSP00000350854:p.Asp693Gly					VPS13D_ENST00000356315.4_Missense_Mutation_p.D693G	p.D693G	NM_015378.2	NP_056193.2	Q5THJ4	VP13D_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)	17	2208	+	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)	693						Missense_Mutation	SNP	ENST00000358136.3	37	c.2078A>G	CCDS30588.1	.	.	.	.	.	.	.	.	.	.	A	28.9	4.960384	0.92791	.	.	ENSG00000048707	ENST00000356315;ENST00000358136	T;T	0.44482	0.92;0.92	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	T	0.61652	0.2364	L	0.59436	1.845	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.996	T	0.61739	-0.7001	10	0.49607	T	0.09	.	16.0843	0.81031	1.0:0.0:0.0:0.0	.	693;693	Q5THJ4-2;Q5THJ4	.;VP13D_HUMAN	G	693	ENSP00000348666:D693G;ENSP00000350854:D693G	ENSP00000348666:D693G	D	+	2	0	VPS13D	12253743	1.000000	0.71417	0.998000	0.56505	0.988000	0.76386	8.907000	0.92634	2.191000	0.70037	0.533000	0.62120	GAT		0.468	VPS13D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000036897.2	NM_015378		27	53	0	0	0	1	0	27	53					G	12331156	A	G	12331156	3	3	204	1	0	0	0	0	1	0	0	0	17189	333	12	4	2140	4	VPS13D	1	12331156	Missense_Mutation	SNP	A	TCGA-HC-7212-01A-11D-2114-08	3246048	12331156	236919465	2	9365											
F3	2152	broad.mit.edu	37	chr1	94996023	94996023	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aacagtgcttcctttatgaaAcattcagtggggagttctcc	10	13	9	9	0	2	1	1	1	1	0	4	2	3	2	2	2	3	2	2	2	3	5			TCGA-HC-7212-01A-11D-2114-08	TCGA-HC-7212-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41815e8f-0332-4826-90c9-ee944f3887a0	4bbff9a5-b19a-4c1c-ae0f-dba68d92e01c	g.chr1:94996023A>G	ENST00000334047.7	-	6	1044	c.881T>C	c.(880-882)gTt>gCt	p.V294A	F3_ENST00000370207.4_3'UTR|F3_ENST00000480356.1_5'Flank	NM_001993.4	NP_001984.1	P13726	TF_HUMAN	coagulation factor III (thromboplastin, tissue factor)	294					activation of blood coagulation via clotting cascade (GO:0002543)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of plasma proteins involved in acute inflammatory response (GO:0002541)|blood coagulation (GO:0007596)|blood coagulation, extrinsic pathway (GO:0007598)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of platelet-derived growth factor receptor signaling pathway (GO:0010641)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of protein kinase B signaling (GO:0051897)	cell surface (GO:0009986)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intrinsic component of external side of plasma membrane (GO:0031233)|plasma membrane (GO:0005886)	phospholipid binding (GO:0005543)|protease binding (GO:0002020)			NS(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(7)	14		all_lung(203;0.00106)|Lung NSC(277;0.00475)		all cancers(265;0.0232)|Epithelial(280;0.121)	Coagulation factor VIIa(DB00036)	CCTTTATGAAACATTCAGTGG	0.433																																					Melanoma(40;358 1339 15970 39161)	ENST00000334047.7																			0				NS(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(7)	14						c.(880-882)gTt>gCt		coagulation factor III (thromboplastin, tissue factor)	Coagulation factor VIIa(DB00036)						125	115	118					1																	94996023		2203	4300	6503	SO:0001583	missense	2152				activation of caspase activity|activation of plasma proteins involved in acute inflammatory response|anti-apoptosis|blood coagulation, extrinsic pathway|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of platelet-derived growth factor receptor signaling pathway|positive regulation of protein kinase B signaling cascade	extracellular matrix|extracellular space|integral to membrane	cell surface binding|phospholipid binding|protease binding	g.chr1:94996023A>G	BC011029	CCDS750.1, CCDS53345.1	1p22-p21	2012-10-02			ENSG00000117525	ENSG00000117525		"CD molecules"	3541	protein-coding gene	gene with protein product		134390					Standard	NM_001993		Approved	CD142	uc001dqr.3	P13726	OTTHUMG00000010716	ENST00000334047.7:c.881T>C	1.37:g.94996023A>G	ENSP00000334145:p.Val294Ala					F3_ENST00000370207.4_3'UTR	p.V294A	NM_001993.4	NP_001984.1	P13726	TF_HUMAN		all cancers(265;0.0232)|Epithelial(280;0.121)	6	1044	-		all_lung(203;0.00106)|Lung NSC(277;0.00475)	294					D3DT47|Q6FHG2|Q86WH4	Missense_Mutation	SNP	ENST00000334047.7	37	c.881T>C	CCDS750.1	.	.	.	.	.	.	.	.	.	.	A	9.304	1.053842	0.19907	.	.	ENSG00000117525	ENST00000334047	T	0.26223	1.75	5.68	-5.52	0.02560	.	1.184210	0.05951	N	0.638863	T	0.02342	0.0072	N	0.04508	-0.205	0.09310	N	0.999998	B	0.02656	0.0	B	0.04013	0.001	T	0.38134	-0.9675	10	0.22109	T	0.4	.	3.1818	0.06587	0.5303:0.1131:0.244:0.1126	.	294	P13726	TF_HUMAN	A	294	ENSP00000334145:V294A	ENSP00000334145:V294A	V	-	2	0	F3	94768611	0.000000	0.05858	0.000000	0.03702	0.027000	0.11550	-0.619000	0.05572	-0.612000	0.05701	-0.256000	0.11100	GTT		0.433	F3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029593.1	NM_001993		3	85	0	0	0	1	0	3	85					G	94996023	A	G	94996023	3	3	204	1	0	0	0	0	1	0	0	0	5347	43	2	4	10	4	F3	1	94996023	Missense_Mutation	SNP	A	TCGA-HC-7212-01A-11D-2114-08	82664867	94996023	154254598	3	9366											
ATP6V1C2	245973	broad.mit.edu	37	chr2	10917833	10917833	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accgacagagagagagagagTgagggcgagggtgaggtaag	14	3	20	4	2	0	5	0	2	0	3	0	10	0	5	1	3	0	1	1	3	1	1			TCGA-HC-7212-01A-11D-2114-08	TCGA-HC-7212-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41815e8f-0332-4826-90c9-ee944f3887a0	4bbff9a5-b19a-4c1c-ae0f-dba68d92e01c	g.chr2:10917833T>A	ENST00000272238.4	+	11	1057	c.948T>A	c.(946-948)agT>agA	p.S316R	ATP6V1C2_ENST00000381661.3_Intron	NM_001039362.1	NP_001034451.1	Q8NEY4	VATC2_HUMAN	ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C2	316					ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|positive regulation of Wnt signaling pathway (GO:0030177)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|proton-transporting V-type ATPase, V1 domain (GO:0033180)	hydrogen-exporting ATPase activity, phosphorylative mechanism (GO:0008553)|protein dimerization activity (GO:0046983)	p.S316fs*14(1)		endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.15)|OV - Ovarian serous cystadenocarcinoma(76;0.152)		AGAGAGAGAGTGAGGGCGAGG	0.602																																					NSCLC(188;1042 2136 10807 16813 47705)	ENST00000272238.4																			1	Deletion - Frameshift(1)	p.S316fs*14(1)	skin(1)	endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19						c.(946-948)agT>agA		ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C2							68	68	68					2																	10917833		1884	4108	5992	SO:0001583	missense	245973				ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|proton-transporting V-type ATPase, V1 domain		g.chr2:10917833T>A	AY039759	CCDS1674.1, CCDS42653.1	2p25.1	2010-04-21	2006-01-13		ENSG00000143882	ENSG00000143882		"ATPases / V-type"	18264	protein-coding gene	gene with protein product			"ATPase, H+ transporting, lysosomal 42kD, V1 subunit C isoform 2", "ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C isoform 2"			12384298	Standard	XR_426949		Approved	VMA5, ATP6C2	uc002ras.3	Q8NEY4	OTTHUMG00000090459	ENST00000272238.4:c.948T>A	2.37:g.10917833T>A	ENSP00000272238:p.Ser316Arg					ATP6V1C2_ENST00000381661.3_Intron	p.S316R	NM_001039362.1	NP_001034451.1	Q8NEY4	VATC2_HUMAN		Epithelial(75;0.15)|OV - Ovarian serous cystadenocarcinoma(76;0.152)	11	1057	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)		316					Q96EL8	Missense_Mutation	SNP	ENST00000272238.4	37	c.948T>A	CCDS42653.1	.	.	.	.	.	.	.	.	.	.	T	15.43	2.830360	0.50845	.	.	ENSG00000143882	ENST00000272238	T	0.43688	0.94	5.54	4.39	0.52855	.	0.160511	0.28766	U	0.014209	T	0.35941	0.0949	L	0.51422	1.61	0.80722	D	1	B	0.28470	0.213	B	0.28465	0.09	T	0.19484	-1.0304	10	0.59425	D	0.04	-14.3505	8.0649	0.30654	0.0:0.0918:0.0:0.9082	.	316	Q8NEY4	VATC2_HUMAN	R	316	ENSP00000272238:S316R	ENSP00000272238:S316R	S	+	3	2	ATP6V1C2	10835284	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.426000	0.34870	0.928000	0.37168	0.482000	0.46254	AGT		0.602	ATP6V1C2-002	KNOWN	not_organism_supported|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000323555.1	NM_144583		4	78	0	0	0	1	0	4	78					A	10917833	T	A	10917833	3	1	204	1	0	0	0	0	1	0	0	0	1181	1693	59	5	986	5	ATP6V1C2	2	10917833	Missense_Mutation	SNP	T	TCGA-HC-7212-01A-11D-2114-08		10917833	232281540	4	9367											
STON1	11037	broad.mit.edu	37	chr2	48809003	48809003	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	caaaaccaaaaaagaactacGaggagcaagaaatttccttg	20	6	7	8	1	0	2	0	0	0	2	1	4	1	3	2	1	4	1	2	1	9	3			TCGA-HC-7212-01A-11D-2114-08	TCGA-HC-7212-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41815e8f-0332-4826-90c9-ee944f3887a0	4bbff9a5-b19a-4c1c-ae0f-dba68d92e01c	g.chr2:48809003G>A	ENST00000406226.1	+	3	1426	c.1231G>A	c.(1231-1233)Gag>Aag	p.E411K	STON1_ENST00000404752.1_Missense_Mutation_p.E411K|STON1-GTF2A1L_ENST00000394754.1_Missense_Mutation_p.E411K|STON1-GTF2A1L_ENST00000402114.2_Missense_Mutation_p.E411K|STON1-GTF2A1L_ENST00000394751.3_Missense_Mutation_p.E411K|STON1-GTF2A1L_ENST00000405008.1_Missense_Mutation_p.E411K|STON1_ENST00000309835.3_Missense_Mutation_p.E411K|STON1-GTF2A1L_ENST00000309827.2_Missense_Mutation_p.E411K	NM_001198595.1	NP_001185524.1	Q9Y6Q2	STON1_HUMAN	stonin 1	411					endocytosis (GO:0006897)|intracellular protein transport (GO:0006886)|regulation of endocytosis (GO:0030100)	clathrin adaptor complex (GO:0030131)				NS(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(19)|prostate(3)|skin(2)	37		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			AAAGAACTACGAGGAGCAAGA	0.403																																						ENST00000309835.3																			0				NS(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(19)|prostate(3)|skin(2)	37						c.(1231-1233)Gag>Aag		stonin 1							67	70	69					2																	48809003		2203	4300	6503	SO:0001583	missense	11037							g.chr2:48809003G>A	AF026169	CCDS1841.1	2p16.3	2008-02-05			ENSG00000243244	ENSG00000243244			17003	protein-coding gene	gene with protein product	"stoned B homolog 1 (Drosophila)"	605357				14504226, 10364255	Standard	NM_001198595		Approved	SBLF, stoned-b1		Q9Y6Q2	OTTHUMG00000129169	ENST00000406226.1:c.1231G>A	2.37:g.48809003G>A	ENSP00000384615:p.Glu411Lys					STON1-GTF2A1L_ENST00000402114.2_Missense_Mutation_p.E411K|STON1_ENST00000406226.1_Missense_Mutation_p.E411K|STON1-GTF2A1L_ENST00000405008.1_Missense_Mutation_p.E411K|STON1_ENST00000404752.1_Missense_Mutation_p.E411K|STON1-GTF2A1L_ENST00000394751.3_Missense_Mutation_p.E411K|STON1-GTF2A1L_ENST00000394754.1_Missense_Mutation_p.E411K|STON1-GTF2A1L_ENST00000309827.2_Missense_Mutation_p.E411K	p.E411K					Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		1	1241	+		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)						A8MXJ1|B5MCF5|B7ZL16|Q96JE3|Q9BYX3	Missense_Mutation	SNP	ENST00000406226.1	37	c.1231G>A	CCDS1841.1	.	.	.	.	.	.	.	.	.	.	G	16.60	3.168436	0.57584	.	.	ENSG00000243244;ENSG00000243244;ENSG00000243244;ENSG00000068781;ENSG00000068781;ENSG00000068781;ENSG00000068781;ENSG00000068781	ENST00000404752;ENST00000406226;ENST00000309835;ENST00000405008;ENST00000402114;ENST00000394754;ENST00000309827;ENST00000394751	T;T;T;T;T;T;T;T	0.18016	2.24;2.24;2.24;2.24;2.24;2.24;2.24;2.24	5.27	5.27	0.74061	Clathrin adaptor, mu subunit, C-terminal (3);	0.000000	0.85682	D	0.000000	T	0.26521	0.0648	L	0.28115	0.83	0.49130	D	0.999753	P;D;D	0.89917	0.858;1.0;1.0	P;D;D	0.91635	0.668;0.993;0.999	T	0.01078	-1.1459	10	0.02654	T	1	.	19.0978	0.93260	0.0:0.0:1.0:0.0	.	411;411;411	A8MXJ1;Q53S48;Q9Y6Q2	.;.;STON1_HUMAN	K	411	ENSP00000385273:E411K;ENSP00000384615:E411K;ENSP00000310969:E411K;ENSP00000385499:E411K;ENSP00000385701:E411K;ENSP00000378236:E411K;ENSP00000311493:E411K;ENSP00000378234:E411K	ENSP00000310969:E411K	E	+	1	0	STON1-GTF2A1L;STON1	48662507	1.000000	0.71417	0.983000	0.44433	0.949000	0.60115	7.848000	0.86902	2.735000	0.93741	0.655000	0.94253	GAG		0.403	STON1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323848.2	NM_006873		6	49	0	0	0	1	0	6	49					A	48809003	G	A	48809003	3	1	204	1	0	0	0	0	1	0	0	0	15315	1059	37	2	1233	2	STON1	2	48809003	Missense_Mutation	SNP	G	TCGA-HC-7212-01A-11D-2114-08	37891170	48809003	194390370	5	9368											
LRRTM1	347730	broad.mit.edu	37	chr2	80529775	80529775	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgtccgcgagcgtggtggcCgagctggcagggggccccag	4	4	19	14	5	0	0	0	0	0	0	1	2	1	0	5	5	2	2	5	5	0	0	rs200884012	byFrequency	TCGA-HC-7212-01A-11D-2114-08	TCGA-HC-7212-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41815e8f-0332-4826-90c9-ee944f3887a0	4bbff9a5-b19a-4c1c-ae0f-dba68d92e01c	g.chr2:80529775C>T	ENST00000295057.3	-	2	1826	c.1170G>A	c.(1168-1170)tcG>tcA	p.S390S	CTNNA2_ENST00000402739.4_Intron|CTNNA2_ENST00000361291.4_Intron|CTNNA2_ENST00000496558.1_Intron|LRRTM1_ENST00000409148.1_Silent_p.S390S|CTNNA2_ENST00000540488.1_Intron|CTNNA2_ENST00000541047.1_Intron|CTNNA2_ENST00000466387.1_Intron	NM_178839.4	NP_849161.2	Q86UE6	LRRT1_HUMAN	leucine rich repeat transmembrane neuronal 1	390					exploration behavior (GO:0035640)|locomotory behavior (GO:0007626)|long-term synaptic potentiation (GO:0060291)|negative regulation of receptor internalization (GO:0002091)|protein localization to synapse (GO:0035418)|synapse organization (GO:0050808)	axon (GO:0030424)|cell junction (GO:0030054)|endoplasmic reticulum (GO:0005783)|excitatory synapse (GO:0060076)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)		p.S390S(2)		NS(1)|breast(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(33)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	63						GCGTGGTGGCCGAGCTGGCAG	0.721										HNSCC(69;0.2)																												ENST00000295057.3																			2	Substitution - coding silent(2)	p.S390S(2)	lung(2)	NS(1)|breast(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(33)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	63						c.(1168-1170)tcG>tcA		leucine rich repeat transmembrane neuronal 1																																				SO:0001819	synonymous_variant	347730					axon|endoplasmic reticulum membrane|growth cone|integral to membrane		g.chr2:80529775C>T	AY358310	CCDS1966.1	2p12	2004-06-22			ENSG00000162951	ENSG00000162951			19408	protein-coding gene	gene with protein product		610867				12676565	Standard	XR_244930		Approved	FLJ32082	uc002sok.1	Q86UE6	OTTHUMG00000130021	ENST00000295057.3:c.1170G>A	2.37:g.80529775C>T		HNSCC(69;0.2)				CTNNA2_ENST00000466387.1_Intron|CTNNA2_ENST00000540488.1_Intron|LRRTM1_ENST00000409148.1_Silent_p.S390S|CTNNA2_ENST00000496558.1_Intron|CTNNA2_ENST00000402739.4_Intron|CTNNA2_ENST00000361291.4_Intron|CTNNA2_ENST00000541047.1_Intron	p.S390S	NM_178839.4	NP_849161.2	Q86UE6	LRRT1_HUMAN			2	1826	-			390					A8K397|D6W5K1|Q96DN1	Silent	SNP	ENST00000295057.3	37	c.1170G>A	CCDS1966.1																																																																																				0.721	LRRTM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313614.1	NM_178839		3	27	0	0	0	1	0	3	27					T	80529775	C	T	80529775	2	4	204	1	0	0	0	0	0	0	0	1	9039	639	23	2		2	LRRTM1	2	80529775	Silent	SNP	C	TCGA-HC-7212-01A-11D-2114-08	31720772	80529775	162669598	6	9369											
CTNNB1	1499	broad.mit.edu	37	chr3	41266112	41266112	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acctggactctggaatccatTctggtgccactaccacagct	9	10	8	14	0	2	0	0	0	2	0	3	2	3	2	4	3	3	1	4	3	2	2	rs121913416|rs121913228		TCGA-HC-7212-01A-11D-2114-08	TCGA-HC-7212-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41815e8f-0332-4826-90c9-ee944f3887a0	4bbff9a5-b19a-4c1c-ae0f-dba68d92e01c	g.chr3:41266112T>G	ENST00000349496.5	+	3	389	c.109T>G	c.(109-111)Tct>Gct	p.S37A	CTNNB1_ENST00000396183.3_Missense_Mutation_p.S37A|CTNNB1_ENST00000405570.1_Missense_Mutation_p.S37A|CTNNB1_ENST00000396185.3_Missense_Mutation_p.S37A|CTNNB1_ENST00000453024.1_Missense_Mutation_p.S30A	NM_001904.3	NP_001895.1	P35222	CTNB1_HUMAN	catenin (cadherin-associated protein), beta 1, 88kDa	37			S -> A (in MDB and hepatocellular carcinoma; enhances transactivation of target genes). {ECO:0000269|PubMed:10435629, ECO:0000269|PubMed:10666372}.|S -> C (in PTR, hepatoblastoma and ovarian cancer). {ECO:0000269|PubMed:10192393, ECO:0000269|PubMed:10391090, ECO:0000269|PubMed:9927029}.|S -> F (in PTR). {ECO:0000269|PubMed:10192393}.|S -> Y (in hepatocellular carcinoma). {ECO:0000269|PubMed:10435629}.|SG -> W (in hepatocellular carcinoma). {ECO:0000269|PubMed:10435629}.		adherens junction assembly (GO:0034333)|androgen receptor signaling pathway (GO:0030521)|anterior/posterior axis specification (GO:0009948)|apoptotic process (GO:0006915)|bone resorption (GO:0045453)|branching involved in ureteric bud morphogenesis (GO:0001658)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|canonical Wnt signaling pathway involved in positive regulation of cardiac outflow tract cell proliferation (GO:0061324)|canonical Wnt signaling pathway involved in positive regulation of epithelial to mesenchymal transition (GO:0044334)|cell adhesion (GO:0007155)|cell fate specification (GO:0001708)|cell maturation (GO:0048469)|cell-matrix adhesion (GO:0007160)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to growth factor stimulus (GO:0071363)|cellular response to indole-3-methanol (GO:0071681)|cellular response to mechanical stimulus (GO:0071260)|central nervous system vasculogenesis (GO:0022009)|cytoskeletal anchoring at plasma membrane (GO:0007016)|determination of dorsal/ventral asymmetry (GO:0048262)|dorsal/ventral axis specification (GO:0009950)|ectoderm development (GO:0007398)|embryonic axis specification (GO:0000578)|embryonic digit morphogenesis (GO:0042733)|embryonic foregut morphogenesis (GO:0048617)|embryonic forelimb morphogenesis (GO:0035115)|embryonic heart tube development (GO:0035050)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal limb joint morphogenesis (GO:0036023)|endodermal cell fate commitment (GO:0001711)|endothelial tube morphogenesis (GO:0061154)|epithelial cell differentiation involved in prostate gland development (GO:0060742)|epithelial to mesenchymal transition (GO:0001837)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|fungiform papilla formation (GO:0061198)|gastrulation with mouth forming second (GO:0001702)|genitalia morphogenesis (GO:0035112)|glial cell fate determination (GO:0007403)|hair cell differentiation (GO:0035315)|hair follicle morphogenesis (GO:0031069)|hair follicle placode formation (GO:0060789)|hindbrain development (GO:0030902)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|layer formation in cerebral cortex (GO:0021819)|lens morphogenesis in camera-type eye (GO:0002089)|liver development (GO:0001889)|lung cell differentiation (GO:0060479)|lung induction (GO:0060492)|lung-associated mesenchyme development (GO:0060484)|male genitalia development (GO:0030539)|mesenchymal cell proliferation involved in lung development (GO:0060916)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|midgut development (GO:0007494)|muscle cell differentiation (GO:0042692)|myoblast differentiation (GO:0045445)|negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of heart induction by canonical Wnt signaling pathway (GO:0003136)|negative regulation of neuron death (GO:1901215)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein sumoylation (GO:0033234)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nephron tubule formation (GO:0072079)|neural plate development (GO:0001840)|neuron migration (GO:0001764)|odontogenesis of dentin-containing tooth (GO:0042475)|oocyte development (GO:0048599)|osteoclast differentiation (GO:0030316)|oviduct development (GO:0060066)|pancreas development (GO:0031016)|patterning of blood vessels (GO:0001569)|positive regulation of apoptotic process (GO:0043065)|positive regulation of branching involved in lung morphogenesis (GO:0061047)|positive regulation of determination of dorsal identity (GO:2000017)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of epithelial cell proliferation involved in prostate gland development (GO:0060769)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of fibroblast growth factor receptor signaling pathway (GO:0045743)|positive regulation of heparan sulfate proteoglycan biosynthetic process (GO:0010909)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein heterooligomerization (GO:0051291)|protein localization to cell surface (GO:0034394)|proximal/distal pattern formation (GO:0009954)|regulation of angiogenesis (GO:0045765)|regulation of calcium ion import (GO:0090279)|regulation of centriole-centriole cohesion (GO:0030997)|regulation of centromeric sister chromatid cohesion (GO:0070602)|regulation of fibroblast proliferation (GO:0048145)|regulation of myelination (GO:0031641)|regulation of nephron tubule epithelial cell differentiation (GO:0072182)|regulation of protein localization to cell surface (GO:2000008)|regulation of secondary heart field cardioblast proliferation (GO:0003266)|regulation of smooth muscle cell proliferation (GO:0048660)|regulation of T cell proliferation (GO:0042129)|renal inner medulla development (GO:0072053)|renal outer medulla development (GO:0072054)|renal vesicle formation (GO:0072033)|response to cadmium ion (GO:0046686)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|Schwann cell proliferation (GO:0014010)|single organismal cell-cell adhesion (GO:0016337)|smooth muscle cell differentiation (GO:0051145)|synapse organization (GO:0050808)|synaptic vesicle transport (GO:0048489)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tongue morphogenesis (GO:0043587)|trachea formation (GO:0060440)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	adherens junction (GO:0005912)|apical part of cell (GO:0045177)|basolateral plasma membrane (GO:0016323)|beta-catenin destruction complex (GO:0030877)|beta-catenin-TCF7L2 complex (GO:0070369)|catenin complex (GO:0016342)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cell periphery (GO:0071944)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|membrane (GO:0016020)|microvillus membrane (GO:0031528)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein-DNA complex (GO:0032993)|Scrib-APC-beta-catenin complex (GO:0034750)|synapse (GO:0045202)|tight junction (GO:0005923)|transcription factor complex (GO:0005667)|Z disc (GO:0030018)|zonula adherens (GO:0005915)	alpha-catenin binding (GO:0045294)|androgen receptor binding (GO:0050681)|cadherin binding (GO:0045296)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|estrogen receptor binding (GO:0030331)|I-SMAD binding (GO:0070411)|ion channel binding (GO:0044325)|kinase binding (GO:0019900)|nuclear hormone receptor binding (GO:0035257)|protein C-terminus binding (GO:0008022)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|R-SMAD binding (GO:0070412)|RNA polymerase II activating transcription factor binding (GO:0001102)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|SMAD binding (GO:0046332)|structural molecule activity (GO:0005198)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)	p.S37A(62)|p.A5_A80del(53)|p.S37P(21)|p.A5_Q143del(7)|p.A5_A80>D(7)|p.Q28_H134del(5)|p.?(4)|p.V22_G38del(3)|p.W25_I140del(3)|p.T3_A126del(2)|p.A5fs*7(2)|p.D32_S47del(2)|p.M5_N141>D(2)|p.L10_N141del(2)|p.A5_Y142>D(2)|p.A5_Q143>E(1)|p.I35_S37>T(1)|p.A13_R151del(1)|p.H36_E53>L(1)|p.M14_S45del(1)|p.A20_N141del(1)|p.M1_A87del(1)|p.D11_Y142>H(1)|p.S37T(1)|p.I35_K170del(1)|p.H24_G38del(1)|p.I35_T41del(1)|p.I35_G38del(1)|p.Y30_A97del(1)|p.V22_T102del(1)|p.A20_A80del(1)|p.V22_S71>A(1)|p.Q28_A43del(1)|p.A5_T59del(1)|p.M1_V173del(1)|p.E15_I140>V(1)|p.S23_A39del(1)|p.H24_M131del(1)|p.A21_A80del(1)|p.D32fs*9(1)|p.A5_T40del(1)|p.A5_E54del(1)|p.S33_S37del(1)|p.M8_A80del(1)|p.P16_K133del(1)|p.V22_Y64del(1)|p.Q28_Q61del(1)|p.A20_S111del(1)|p.Y30_T40del(1)|p.GIHS34?(1)|p.S37_G38>W(1)|p.Y30_A80del(1)	CTNNB1/PLAG1(60)	NS(4)|adrenal_gland(103)|biliary_tract(43)|bone(21)|breast(7)|central_nervous_system(260)|cervix(9)|endometrium(293)|eye(1)|haematopoietic_and_lymphoid_tissue(60)|kidney(202)|large_intestine(269)|liver(1010)|lung(63)|oesophagus(6)|ovary(106)|pancreas(126)|parathyroid(11)|pituitary(111)|pleura(2)|prostate(31)|salivary_gland(13)|skin(103)|small_intestine(17)|soft_tissue(792)|stomach(165)|thyroid(55)|upper_aerodigestive_tract(2)|urinary_tract(8)	3893				KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294)		TGGAATCCATTCTGGTGCCAC	0.498	S37P(HEC108_ENDOMETRIUM)|S37P(SNGM_ENDOMETRIUM)	15	"H, Mis, T"	PLAG1	"colorectal, cvarian,  hepatoblastoma, others, pleomorphic salivary adenoma"				Pilomatrixoma, Familial Clustering of																												Colon(6;3 56 14213 18255)	ENST00000349496.5	S37P(HEC108_ENDOMETRIUM)|S37P(SNGM_ENDOMETRIUM)	15		Dom	yes		3	3p22-p21.3	1499	"H, Mis, T"	"catenin (cadherin-associated protein), beta 1"			"E, M, O"	PLAG1		"colorectal, cvarian,  hepatoblastoma, others, pleomorphic salivary adenoma"	CTNNB1/PLAG1(60)	214	Deletion - In frame(102)|Substitution - Missense(84)|Complex - deletion inframe(18)|Unknown(7)|Deletion - Frameshift(3)	p.S37A(62)|p.A5_A80del(53)|p.S37P(21)|p.A5_Q143del(7)|p.A5_A80>D(7)|p.Q28_H134del(5)|p.?(4)|p.V22_G38del(3)|p.W25_I140del(3)|p.T3_A126del(2)|p.A5fs*7(2)|p.D32_S47del(2)|p.M5_N141>D(2)|p.L10_N141del(2)|p.A5_Y142>D(2)|p.A5_Q143>E(1)|p.I35_S37>T(1)|p.A13_R151del(1)|p.H36_E53>L(1)|p.M14_S45del(1)|p.A20_N141del(1)|p.M1_A87del(1)|p.D11_Y142>H(1)|p.S37T(1)|p.I35_K170del(1)|p.H24_G38del(1)|p.I35_T41del(1)|p.I35_G38del(1)|p.Y30_A97del(1)|p.V22_T102del(1)|p.A20_A80del(1)|p.V22_S71>A(1)|p.Q28_A43del(1)|p.A5_T59del(1)|p.M1_V173del(1)|p.E15_I140>V(1)|p.S23_A39del(1)|p.H24_M131del(1)|p.A21_A80del(1)|p.D32fs*9(1)|p.A5_T40del(1)|p.A5_E54del(1)|p.S33_S37del(1)|p.M8_A80del(1)|p.P16_K133del(1)|p.V22_Y64del(1)|p.Q28_Q61del(1)|p.A20_S111del(1)|p.Y30_T40del(1)|p.GIHS34?(1)|p.S37_G38>W(1)|p.Y30_A80del(1)	liver(108)|large_intestine(33)|stomach(21)|endometrium(13)|small_intestine(10)|parathyroid(9)|central_nervous_system(8)|skin(3)|ovary(3)|pancreas(2)|adrenal_gland(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|pituitary(1)	NS(4)|adrenal_gland(103)|biliary_tract(43)|bone(21)|breast(7)|central_nervous_system(260)|cervix(9)|endometrium(293)|eye(1)|haematopoietic_and_lymphoid_tissue(60)|kidney(202)|large_intestine(269)|liver(1010)|lung(63)|oesophagus(6)|ovary(106)|pancreas(126)|parathyroid(11)|pituitary(111)|pleura(2)|prostate(31)|salivary_gland(13)|skin(103)|small_intestine(17)|soft_tissue(792)|stomach(165)|thyroid(55)|upper_aerodigestive_tract(2)|urinary_tract(8)	3893						c.(109-111)Tct>Gct		catenin (cadherin-associated protein), beta 1, 88kDa	Lithium(DB01356)						94	79	84					3																	41266112		2203	4300	6503	SO:0001583	missense	1499	Pilomatrixoma, Familial Clustering of	Familial Cancer Database	Pilomatricoma, Familial Clustering of, Epithelioma Calcificans of Malherbe	adherens junction assembly|androgen receptor signaling pathway|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway involved in negative regulation of apoptosis|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell-cell adhesion|cell-matrix adhesion|cellular component disassembly involved in apoptosis|cellular response to growth factor stimulus|cellular response to indole-3-methanol|central nervous system vasculogenesis|cytoskeletal anchoring at plasma membrane|determination of dorsal/ventral asymmetry|dorsal/ventral axis specification|ectoderm development|embryonic axis specification|embryonic foregut morphogenesis|embryonic leg joint morphogenesis|endodermal cell fate commitment|endothelial tube morphogenesis|epithelial to mesenchymal transition|gastrulation with mouth forming second|glial cell fate determination|hair follicle morphogenesis|hair follicle placode formation|hindbrain development|liver development|lung cell differentiation|lung induction|lung-associated mesenchyme development|male genitalia development|mesenchymal cell proliferation involved in lung development|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of osteoclast differentiation|negative regulation of transcription from RNA polymerase II promoter|nephron tubule formation|odontogenesis of dentine-containing tooth|oocyte development|pancreas development|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of branching involved in lung morphogenesis|positive regulation of epithelial cell proliferation involved in prostate gland development|positive regulation of fibroblast growth factor receptor signaling pathway|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of muscle cell differentiation|positive regulation of osteoblast differentiation|positive regulation of transcription from RNA polymerase II promoter|protein localization at cell surface|proximal/distal pattern formation|regulation of angiogenesis|regulation of calcium ion import|regulation of centriole-centriole cohesion|regulation of centromeric sister chromatid cohesion|regulation of fibroblast proliferation|regulation of nephron tubule epithelial cell differentiation|regulation of protein localization at cell surface|regulation of smooth muscle cell proliferation|regulation of T cell proliferation|renal inner medulla development|renal outer medulla development|renal vesicle formation|response to drug|response to estradiol stimulus|Schwann cell proliferation|smooth muscle cell differentiation|synapse organization|synaptic vesicle transport|T cell differentiation in thymus|thymus development|trachea formation	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin-TCF7L2 complex|catenin complex|cell cortex|cell-substrate adherens junction|centrosome|dendritic shaft|desmosome|fascia adherens|internal side of plasma membrane|lamellipodium|lateral plasma membrane|microvillus membrane|perinuclear region of cytoplasm|protein-DNA complex|synapse|transcription factor complex|Z disc|zonula adherens	alpha-catenin binding|androgen receptor binding|cadherin binding|estrogen receptor binding|I-SMAD binding|ion channel binding|protein binding|protein C-terminus binding|protein kinase binding|protein phosphatase binding|R-SMAD binding|RPTP-like protein binding|signal transducer activity|specific RNA polymerase II transcription factor activity|structural molecule activity|transcription coactivator activity|transcription regulatory region DNA binding	g.chr3:41266112T>G	X87838	CCDS2694.1	3p21	2013-02-15	2002-08-29		ENSG00000168036	ENSG00000168036		"Armadillo repeat containing"	2514	protein-coding gene	gene with protein product		116806	"catenin (cadherin-associated protein), beta 1 (88kD)"	CTNNB		7829088	Standard	NM_001098210		Approved	beta-catenin, armadillo	uc003ckr.2	P35222	OTTHUMG00000131393	ENST00000349496.5:c.109T>G	3.37:g.41266112T>G	ENSP00000344456:p.Ser37Ala					CTNNB1_ENST00000396185.3_Missense_Mutation_p.S37A|CTNNB1_ENST00000396183.3_Missense_Mutation_p.S37A|CTNNB1_ENST00000453024.1_Missense_Mutation_p.S30A|CTNNB1_ENST00000405570.1_Missense_Mutation_p.S37A	p.S37A	NM_001904.3	NP_001895.1	P35222	CTNB1_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294)	3	389	+			37		S -> A (in MDB and hepatocellular carcinoma; enhances transactivation of target genes).|S -> C (in PTR, hepatoblastoma and ovarian cancer).|S -> F (in PTR).|S -> Y (in hepatocellular carcinoma).|SG -> W (in hepatocellular carcinoma).			A8K1L7|Q8NEW9|Q8NI94|Q9H391	Missense_Mutation	SNP	ENST00000349496.5	37	c.109T>G	CCDS2694.1	.	.	.	.	.	.	.	.	.	.	T	25.0	4.591559	0.86953	.	.	ENSG00000168036	ENST00000426215;ENST00000405570;ENST00000431914;ENST00000396183;ENST00000349496;ENST00000453024;ENST00000396185;ENST00000450969;ENST00000441708	T;T;T;T;T;T;T;T;T	0.44482	0.92;0.92;0.92;0.92;0.92;0.92;0.92;0.92;0.92	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	T	0.67468	0.2896	M	0.80183	2.485	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.72357	-0.4318	10	0.87932	D	0	-15.9763	16.0677	0.80897	0.0:0.0:0.0:1.0	.	37	P35222	CTNB1_HUMAN	A	30;37;37;37;37;30;37;37;37	ENSP00000400508:S30A;ENSP00000385604:S37A;ENSP00000412219:S37A;ENSP00000379486:S37A;ENSP00000344456:S37A;ENSP00000411226:S30A;ENSP00000379488:S37A;ENSP00000409302:S37A;ENSP00000401599:S37A	ENSP00000344456:S37A	S	+	1	0	CTNNB1	41241116	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.040000	0.89188	2.201000	0.70794	0.533000	0.62120	TCT		0.498	CTNNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254182.2	NM_001098210		5	46	0	0	0	1	0	5	46					G	41266112	T	G	41266112	3	3	204	1	0	0	0	0	1	0	0	0	4016	1783	62	5	115	5	CTNNB1	3	41266112	Missense_Mutation	SNP	T	TCGA-HC-7212-01A-11D-2114-08		41266112	156756318	7	9370											
HYAL3	8372	broad.mit.edu	37	chr3	50332378	50332378	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caagggtggctgcatggcagCggccggtatagttggaagcc	8	7	17	9	2	0	0	0	0	0	0	0	1	0	1	2	6	3	5	2	6	4	3	rs142315421	byFrequency	TCGA-HC-7212-01A-11D-2114-08	TCGA-HC-7212-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41815e8f-0332-4826-90c9-ee944f3887a0	4bbff9a5-b19a-4c1c-ae0f-dba68d92e01c	g.chr3:50332378C>T	ENST00000336307.1	-	2	928	c.656G>A	c.(655-657)cGc>cAc	p.R219H	IFRD2_ENST00000436390.1_5'Flank|HYAL3_ENST00000359051.3_Missense_Mutation_p.R219H|HYAL3_ENST00000450982.1_Missense_Mutation_p.R219H|IFRD2_ENST00000484043.1_5'Flank|IFRD2_ENST00000417626.2_5'Flank|HYAL3_ENST00000513170.1_Intron|HYAL3_ENST00000415204.1_Intron|IFRD2_ENST00000336089.4_5'Flank|IFRD2_ENST00000429673.2_5'Flank	NM_001200029.1|NM_003549.3	NP_001186958.1|NP_003540.2	O43820	HYAL3_HUMAN	hyaluronoglucosaminidase 3	219					carbohydrate metabolic process (GO:0005975)|cartilage development (GO:0051216)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|cellular response to UV-B (GO:0071493)|hyaluronan catabolic process (GO:0030214)|inflammatory response (GO:0006954)|response to antibiotic (GO:0046677)|response to virus (GO:0009615)	cytoplasmic vesicle (GO:0031410)|extracellular region (GO:0005576)|lysosome (GO:0005764)	hyaluronoglucuronidase activity (GO:0033906)|hyalurononglucosaminidase activity (GO:0004415)			central_nervous_system(1)|endometrium(2)|kidney(1)|lung(5)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	19				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		TGCATGGCAGCGGCCGGTATA	0.632																																						ENST00000336307.1																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|lung(5)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	19						c.(655-657)cGc>cAc		hyaluronoglucosaminidase 3		C	HIS/ARG,HIS/ARG,,,HIS/ARG	0,4406		0,0,2203	46	47	46		656,656,,,656	-5.1	0.9	3	dbSNP_134	46	4,8596	3.7+/-12.6	0,4,4296	yes	missense,missense,intron,intron,missense	HYAL3	NM_001200029.1,NM_001200030.1,NM_001200031.1,NM_001200032.1,NM_003549.3	29,29,,,29	0,4,6499	TT,TC,CC		0.0465,0.0,0.0308	benign,benign,,,benign	219/418,219/388,,,219/418	50332378	4,13002	2203	4300	6503	SO:0001583	missense	8372				carbohydrate metabolic process	extracellular region|lysosome	hyalurononglucosaminidase activity	g.chr3:50332378C>T	AF040710	CCDS2815.1, CCDS56259.1, CCDS56260.1, CCDS56257.1	3p21.3	2004-03-12			ENSG00000186792	ENSG00000186792			5322	protein-coding gene	gene with protein product		604038				10493834	Standard	NM_003549		Approved	LUCA-3, LUCA14, Minna14	uc021wyn.1	O43820	OTTHUMG00000156936	ENST00000336307.1:c.656G>A	3.37:g.50332378C>T	ENSP00000337425:p.Arg219His					HYAL3_ENST00000513170.1_Intron|HYAL3_ENST00000415204.1_Intron|HYAL3_ENST00000450982.1_Missense_Mutation_p.R219H|HYAL3_ENST00000359051.3_Missense_Mutation_p.R219H	p.R219H	NM_001200029.1|NM_003549.3	NP_001186958.1|NP_003540.2	O43820	HYAL3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)	2	928	-			219					O60540|Q8NFK2|Q8NFK3|Q8NFK4|Q96E56|Q9BRW9	Missense_Mutation	SNP	ENST00000336307.1	37	c.656G>A	CCDS2815.1	.	.	.	.	.	.	.	.	.	.	C	0.154	-1.088322	0.01873	0.0	4.65E-4	ENSG00000186792	ENST00000359051;ENST00000336307;ENST00000450982	T;T;T	0.23552	1.9;1.9;1.9	4.74	-5.08	0.02929	Aldolase-type TIM barrel (1);Glycoside hydrolase, superfamily (1);	0.554792	0.17589	N	0.168858	T	0.07369	0.0186	N	0.02120	-0.675	0.09310	N	1	B;B	0.14012	0.009;0.007	B;B	0.08055	0.003;0.002	T	0.34576	-0.9823	10	0.11794	T	0.64	-4.5508	12.9443	0.58364	0.0:0.1194:0.0:0.8806	.	219;219	O43820;O43820-2	HYAL3_HUMAN;.	H	219	ENSP00000351946:R219H;ENSP00000337425:R219H;ENSP00000391922:R219H	ENSP00000337425:R219H	R	-	2	0	HYAL3	50307382	0.000000	0.05858	0.914000	0.36105	0.162000	0.22319	-0.330000	0.07925	-1.039000	0.03275	-1.326000	0.01283	CGC		0.632	HYAL3-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000346664.1	NM_003549		19	63	0	0	0	1	0	19	63					T	50332378	C	T	50332378	3	4	204	1	0	0	0	0	1	0	0	0	7465	768	27	1	609	1	HYAL3	3	50332378	Missense_Mutation	SNP	C	TCGA-HC-7212-01A-11D-2114-08	9066266	50332378	147690052	8	9371											
TIFAB	140947	broad.mit.edu	37	chr5	134785319	134785319	+	5'Flank	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggatgcctgagaaggagaccCtgttgacggtgctcaggggg	8	7	18	8	1	1	3	1	2	0	2	1	6	1	4	2	5	2	2	2	5	1	1			TCGA-HC-7212-01A-11D-2114-08	TCGA-HC-7212-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41815e8f-0332-4826-90c9-ee944f3887a0	4bbff9a5-b19a-4c1c-ae0f-dba68d92e01c	g.chr5:134785319C>T	ENST00000503143.2	-	0	0				CTB-138E5.1_ENST00000510230.1_RNA|TIFAB_ENST00000537858.1_Missense_Mutation_p.R104K	NM_130848.2	NP_570900.1	Q8TF63	DCNP1_HUMAN								nucleus (GO:0005634)				endometrium(1)|lung(1)|prostate(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			GAAGGAGACCCTGTTGACGGT	0.587																																						ENST00000537858.1																			0				breast(1)|endometrium(1)|liver(1)|lung(5)	8						c.(310-312)aGg>aAg		TRAF-interacting protein with forkhead-associated domain, family member B							101	104	103					5																	134785319		2089	4219	6308	SO:0001631	upstream_gene_variant	497189							g.chr5:134785319C>T																													5.37:g.134785319C>T	Exception_encountered						p.R104K	NM_001099221.1	NP_001092691.1	Q6ZNK6	TIFAB_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)		2	511	-			104						Missense_Mutation	SNP	ENST00000503143.2	37	c.311G>A	CCDS4186.1	.	.	.	.	.	.	.	.	.	.	C	9.073	0.997494	0.19043	.	.	ENSG00000255833	ENST00000537858	D	0.87179	-2.22	5.27	3.18	0.36537	Forkhead-associated (FHA) domain (2);SMAD/FHA domain (1);	0.343940	0.23784	U	0.044583	T	0.80042	0.4551	L	0.46157	1.445	0.09310	N	1	B	0.17268	0.021	B	0.20767	0.031	T	0.69277	-0.5187	10	0.51188	T	0.08	.	4.1666	0.10310	0.0:0.6071:0.2445:0.1483	.	104	Q6ZNK6	TIFAB_HUMAN	K	104	ENSP00000440509:R104K	ENSP00000440509:R104K	R	-	2	0	TIFAB	134813218	0.009000	0.17119	0.054000	0.19295	0.008000	0.06430	-0.072000	0.11486	1.201000	0.43203	0.563000	0.77884	AGG		0.587	C5orf20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372531.1			12	114	0	0	0	1	0	12	114					T	134785319	C	T	134785319	1	4	204	0	1	0	0	0	0	0	0	0	15892	681	24	3		3	TIFAB	5	134785319	5'Flank	SNP	C	TCGA-HC-7212-01A-11D-2114-08		134785319	46129941	9	9372											
NEDD9	4739	broad.mit.edu	37	chr6	11191315	11191315	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttggtgcaggttggaggaaTgtcataaaccccctccggtc	8	10	12	11	1	1	0	1	0	0	0	3	2	2	2	3	5	2	2	3	5	3	3			TCGA-HC-7212-01A-11D-2114-08	TCGA-HC-7212-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41815e8f-0332-4826-90c9-ee944f3887a0	4bbff9a5-b19a-4c1c-ae0f-dba68d92e01c	g.chr6:11191315T>C	ENST00000379446.5	-	5	953	c.787A>G	c.(787-789)Att>Gtt	p.I263V	NEDD9_ENST00000504387.1_Missense_Mutation_p.I263V|RP3-510L9.1_ENST00000500636.2_RNA	NM_001271033.1|NM_006403.3	NP_001257962.1|NP_006394.1	Q14511	CASL_HUMAN	neural precursor cell expressed, developmentally down-regulated 9	263					actin filament bundle assembly (GO:0051017)|cell adhesion (GO:0007155)|cytoskeleton organization (GO:0007010)|integrin-mediated signaling pathway (GO:0007229)|mitotic nuclear division (GO:0007067)|regulation of growth (GO:0040008)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|spindle (GO:0005819)|spindle pole (GO:0000922)				endometrium(3)|kidney(2)|large_intestine(8)|liver(1)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	Breast(50;0.0768)|Ovarian(93;0.152)	all_hematologic(90;0.135)	Epithelial(50;0.0647)|all cancers(50;0.179)			GTTGGAGGAATGTCATAAACC	0.552																																						ENST00000379446.5																			0				endometrium(3)|kidney(2)|large_intestine(8)|liver(1)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						c.(787-789)Att>Gtt		neural precursor cell expressed, developmentally down-regulated 9							84	74	78					6																	11191315		2203	4300	6503	SO:0001583	missense	4739				actin filament bundle assembly|cell adhesion|cell division|integrin-mediated signaling pathway|mitosis|regulation of growth	cell cortex|focal adhesion|Golgi apparatus|lamellipodium|nucleus	protein binding	g.chr6:11191315T>C	L43821	CCDS4520.1, CCDS34340.1, CCDS47373.1, CCDS75400.1	6p25-p24	2011-04-13			ENSG00000111859	ENSG00000111859		"Cas scaffolding proteins"	7733	protein-coding gene	gene with protein product	"Cas scaffolding protein family member 2", "Cas-like"	602265					Standard	NM_182966		Approved	HEF1, CAS-L, CASS2	uc003mzv.2	Q14511	OTTHUMG00000014255	ENST00000379446.5:c.787A>G	6.37:g.11191315T>C	ENSP00000368759:p.Ile263Val					NEDD9_ENST00000504387.1_Missense_Mutation_p.I263V|RP3-510L9.1_ENST00000500636.2_RNA	p.I263V	NM_001271033.1|NM_006403.3	NP_001257962.1|NP_006394.1	Q14511	CASL_HUMAN	Epithelial(50;0.0647)|all cancers(50;0.179)		5	953	-	Breast(50;0.0768)|Ovarian(93;0.152)	all_hematologic(90;0.135)	263					A8K9G7|A8MSJ9|G5E9Y9|Q5T9R4|Q5XKI0	Missense_Mutation	SNP	ENST00000379446.5	37	c.787A>G	CCDS4520.1	.	.	.	.	.	.	.	.	.	.	t	0.010	-1.749832	0.00669	.	.	ENSG00000111859	ENST00000379446;ENST00000504387	T;T	0.35421	1.31;1.41	6.07	4.91	0.64330	.	0.243990	0.48767	N	0.000168	T	0.05547	0.0146	N	0.10972	0.075	0.80722	D	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.10450	0.005;0.002;0.003	T	0.29366	-1.0014	10	0.02654	T	1	-27.0633	8.2732	0.31857	0.0:0.2085:0.0:0.7915	.	263;263;263	G5E9Y9;A8K9G7;Q14511	.;.;CASL_HUMAN	V	263	ENSP00000368759:I263V;ENSP00000422871:I263V	ENSP00000368759:I263V	I	-	1	0	NEDD9	11299301	1.000000	0.71417	1.000000	0.80357	0.122000	0.20287	1.119000	0.31258	1.128000	0.42052	0.529000	0.55759	ATT		0.552	NEDD9-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000039853.2	NM_006403		3	76	0	0	0	1	0	3	76					C	11191315	T	C	11191315	3	2	204	1	0	0	0	0	1	0	0	0	10313	1464	51	4	1729	4	NEDD9	6	11191315	Missense_Mutation	SNP	T	TCGA-HC-7212-01A-11D-2114-08		11191315	159923752	10	9373											
ANKMY2	57037	broad.mit.edu	37	chr7	16640446	16640446	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aagccttccaactcagcttcGctttcaagagattctttctt	9	15	5	12	1	4	1	2	0	2	1	6	2	5	1	2	0	3	2	2	0	3	6			TCGA-HC-7212-01A-11D-2114-08	TCGA-HC-7212-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41815e8f-0332-4826-90c9-ee944f3887a0	4bbff9a5-b19a-4c1c-ae0f-dba68d92e01c	g.chr7:16640446G>A	ENST00000306999.2	-	10	1509	c.1266C>T	c.(1264-1266)agC>agT	p.S422S		NM_020319.2	NP_064715.1	Q8IV38	ANKY2_HUMAN	ankyrin repeat and MYND domain containing 2	422						cilium (GO:0005929)	metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|urinary_tract(1)	23	Lung NSC(10;0.103)|all_lung(11;0.204)			UCEC - Uterine corpus endometrioid carcinoma (126;0.195)		ACTCAGCTTCGCTTTCAAGAG	0.493																																						ENST00000306999.2																			0				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|urinary_tract(1)	23						c.(1264-1266)agC>agT		ankyrin repeat and MYND domain containing 2							85	79	81					7																	16640446		2203	4300	6503	SO:0001819	synonymous_variant	57037					cilium	zinc ion binding	g.chr7:16640446G>A	AK001740	CCDS5361.1	7p21	2013-01-10			ENSG00000106524	ENSG00000106524		"Zinc fingers, MYND-type", "Ankyrin repeat domain containing"	25370	protein-coding gene	gene with protein product						12477932	Standard	NM_020319		Approved	DKFZP564O043, ZMYND20	uc003sti.3	Q8IV38	OTTHUMG00000090806	ENST00000306999.2:c.1266C>T	7.37:g.16640446G>A							p.S422S	NM_020319.2	NP_064715.1	Q8IV38	ANKY2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)	10	1509	-	Lung NSC(10;0.103)|all_lung(11;0.204)		422					A4D124|Q659G1|Q96BL3	Silent	SNP	ENST00000306999.2	37	c.1266C>T	CCDS5361.1																																																																																				0.493	ANKMY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207600.2	NM_020319		4	50	0	0	0	1	0	4	50					A	16640446	G	A	16640446	2	1	204	1	0	0	0	0	0	0	0	1	635	1078	38	1		1	ANKMY2	7	16640446	Silent	SNP	G	TCGA-HC-7212-01A-11D-2114-08		16640446	142498217	11	9374											
LMTK2	22853	broad.mit.edu	37	chr7	97822326	97822326	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgtttagatgttattgtccCggaggactgtctccaccagg	7	13	12	9	1	1	1	0	0	1	1	3	3	2	3	3	3	0	2	3	3	2	4			TCGA-HC-7212-01A-11D-2114-08	TCGA-HC-7212-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41815e8f-0332-4826-90c9-ee944f3887a0	4bbff9a5-b19a-4c1c-ae0f-dba68d92e01c	g.chr7:97822326C>T	ENST00000297293.5	+	11	2842	c.2549C>T	c.(2548-2550)cCg>cTg	p.P850L		NM_014916.3	NP_055731.2	Q8IWU2	LMTK2_HUMAN	lemur tyrosine kinase 2	850					early endosome to late endosome transport (GO:0045022)|endocytic recycling (GO:0032456)|negative regulation of catalytic activity (GO:0043086)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|receptor recycling (GO:0001881)|transferrin transport (GO:0033572)	early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)	ATP binding (GO:0005524)|myosin VI binding (GO:0070853)|protein phosphatase inhibitor activity (GO:0004864)|protein serine/threonine kinase activity (GO:0004674)	p.P850L(4)		NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3)	59	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)					GTTATTGTCCCGGAGGACTGT	0.552																																						ENST00000297293.5																			4	Substitution - Missense(4)	p.P850L(4)	lung(4)	NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3)	59						c.(2548-2550)cCg>cTg		lemur tyrosine kinase 2							75	74	75					7																	97822326		2203	4300	6503	SO:0001583	missense	22853				early endosome to late endosome transport|endocytic recycling|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation|receptor recycling|transferrin transport	early endosome|Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|recycling endosome	ATP binding|myosin VI binding|protein phosphatase inhibitor activity|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr7:97822326C>T	AB029002	CCDS5654.1	7q22.1	2014-06-12			ENSG00000164715	ENSG00000164715			17880	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 100"	610989				15005709	Standard	NM_014916		Approved	KIAA1079, KPI2, KPI-2, cprk, LMR2, BREK, AATYK2, PPP1R100	uc003upd.2	Q8IWU2	OTTHUMG00000154256	ENST00000297293.5:c.2549C>T	7.37:g.97822326C>T	ENSP00000297293:p.Pro850Leu						p.P850L	NM_014916.3	NP_055731.2	Q8IWU2	LMTK2_HUMAN			11	2842	+	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)		850					A4D272|Q75MG7|Q9UPS3	Missense_Mutation	SNP	ENST00000297293.5	37	c.2549C>T	CCDS5654.1	.	.	.	.	.	.	.	.	.	.	C	7.113	0.576369	0.13686	.	.	ENSG00000164715	ENST00000297293	T	0.76060	-0.99	5.73	-3.5	0.04710	.	1.354370	0.03874	N	0.276171	T	0.49115	0.1538	N	0.16478	0.41	0.09310	N	0.999999	B	0.02656	0.0	B	0.01281	0.0	T	0.29912	-0.9996	10	0.09590	T	0.72	.	0.5132	0.00599	0.1881:0.1589:0.3822:0.2708	.	850	Q8IWU2	LMTK2_HUMAN	L	850	ENSP00000297293:P850L	ENSP00000297293:P850L	P	+	2	0	LMTK2	97660262	0.000000	0.05858	0.000000	0.03702	0.156000	0.22039	-0.726000	0.04936	-0.414000	0.07495	0.655000	0.94253	CCG		0.552	LMTK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334560.1	NM_014916		8	82	0	0	0	1	0	8	82					T	97822326	C	T	97822326	3	4	204	1	0	0	0	0	1	0	0	0	8859	652	23	2	2591	2	LMTK2	7	97822326	Missense_Mutation	SNP	C	TCGA-HC-7212-01A-11D-2114-08	81181880	97822326	61316337	12	9375											
MEPCE	56257	broad.mit.edu	37	chr7	100031160	100031160	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtacctgttccacaaggccCgatcccccagccactaagtg	9	8	8	16	1	0	0	0	0	0	0	2	1	2	0	6	1	2	2	6	1	3	3			TCGA-HC-7212-01A-11D-2114-08	TCGA-HC-7212-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41815e8f-0332-4826-90c9-ee944f3887a0	4bbff9a5-b19a-4c1c-ae0f-dba68d92e01c	g.chr7:100031160C>T	ENST00000310512.2	+	4	2441	c.2053C>T	c.(2053-2055)Cga>Tga	p.R685*	MEPCE_ENST00000414441.1_Nonsense_Mutation_p.R216*|RP11-758P17.3_ENST00000475250.1_RNA|RP11-758P17.2_ENST00000492523.1_RNA|PPP1R35_ENST00000476185.1_5'Flank	NM_019606.5	NP_062552.2	Q7L2J0	MEPCE_HUMAN	methylphosphate capping enzyme	685	Bin3-type SAM. {ECO:0000255|PROSITE- ProRule:PRU00848}.				negative regulation of chromatin binding (GO:0035562)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|RNA methylation (GO:0001510)|snRNA metabolic process (GO:0016073)|snRNA modification (GO:0040031)		poly(A) RNA binding (GO:0044822)|RNA methyltransferase activity (GO:0008173)|S-adenosylmethionine-dependent methyltransferase activity (GO:0008757)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(2)|lung(9)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CCACAAGGCCCGATCCCCCAG	0.582																																						ENST00000310512.2																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(2)|lung(9)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24						c.(2053-2055)Cga>Tga		methylphosphate capping enzyme							55	56	56					7																	100031160		2203	4300	6503	SO:0001587	stop_gained	56257						methyltransferase activity	g.chr7:100031160C>T	AF264752	CCDS5693.1, CCDS55136.1	7q22.1	2008-02-04	2007-07-26	2007-07-26	ENSG00000146834	ENSG00000146834			20247	protein-coding gene	gene with protein product		611478	"bin3, bicoid-interacting 3, homolog (Drosophila)"	BCDIN3		12358911, 17643375	Standard	NM_019606		Approved	FLJ20257, MePCE	uc003uuw.3	Q7L2J0	OTTHUMG00000155255	ENST00000310512.2:c.2053C>T	7.37:g.100031160C>T	ENSP00000308546:p.Arg685*					MEPCE_ENST00000414441.1_Nonsense_Mutation_p.R216*	p.R685*	NM_019606.5	NP_062552.2	Q7L2J0	MEPCE_HUMAN			4	2441	+	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		685			Bin3-type SAM.		B3KP86|D6W5V7|Q9NPD4	Nonsense_Mutation	SNP	ENST00000310512.2	37	c.2053C>T	CCDS5693.1	.	.	.	.	.	.	.	.	.	.	C	50	16.567865	0.99866	.	.	ENSG00000146834	ENST00000414441;ENST00000425355;ENST00000310512	.	.	.	4.87	-0.301	0.12800	.	1.031000	0.07700	N	0.940280	.	.	.	.	.	.	0.42351	D	0.99237	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-10.6578	3.526	0.07760	0.1714:0.4503:0.0:0.3783	.	.	.	.	X	216;216;685	.	ENSP00000308546:R685X	R	+	1	2	MEPCE	99869096	0.001000	0.12720	0.151000	0.22473	0.977000	0.68977	0.538000	0.23160	0.087000	0.17167	0.462000	0.41574	CGA		0.582	MEPCE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339135.1			4	52	0	0	0	1	0	4	52					T	100031160	C	T	100031160	4	4	204	1	0	0	0	0	0	1	0	0	9477	644	23	2	2067	2	MEPCE	7	100031160	Nonsense_Mutation	SNP	C	TCGA-HC-7212-01A-11D-2114-08	2208834	100031160	59107503	13	9376											
C7orf66	154907	broad.mit.edu	37	chr7	108524126	108524126	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tggtttcttgtggacaatccGtagatatgcacctttcactt	8	16	8	9	1	2	1	1	0	1	1	3	2	3	2	2	2	1	3	2	2	3	6	rs143724624		TCGA-HC-7212-01A-11D-2114-08	TCGA-HC-7212-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41815e8f-0332-4826-90c9-ee944f3887a0	4bbff9a5-b19a-4c1c-ae0f-dba68d92e01c	g.chr7:108524126G>A	ENST00000379007.2	-	2	340	c.286C>T	c.(286-288)Cgg>Tgg	p.R96W		NM_001024607.1	NP_001019778.1	A4D0T2	CG066_HUMAN	chromosome 7 open reading frame 66	96						integral component of membrane (GO:0016021)				breast(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)	15						TGGACAATCCGTAGATATGCA	0.348																																						ENST00000379007.2																			0				breast(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)	15						c.(286-288)Cgg>Tgg		chromosome 7 open reading frame 66			TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	168	148	154		286	-6.3	0	7	dbSNP_134	154	0,8600		0,0,4300	no	missense	C7orf66	NM_001024607.1	101	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	96/116	108524126	1,13005	2203	4300	6503	SO:0001583	missense	154907					integral to membrane		g.chr7:108524126G>A	AF103078	CCDS34735.1	7q31.1	2009-03-06			ENSG00000205174	ENSG00000205174			33712	protein-coding gene	gene with protein product							Standard	NM_001024607		Approved		uc003vfo.3	A4D0T2	OTTHUMG00000154867	ENST00000379007.2:c.286C>T	7.37:g.108524126G>A	ENSP00000368292:p.Arg96Trp						p.R96W	NM_001024607.1	NP_001019778.1	A4D0T2	CG066_HUMAN			2	340	-			96						Missense_Mutation	SNP	ENST00000379007.2	37	c.286C>T	CCDS34735.1	.	.	.	.	.	.	.	.	.	.	g	10.54	1.378512	0.24944	2.27E-4	0.0	ENSG00000205174	ENST00000379007	.	.	.	3.62	-6.34	0.01982	.	.	.	.	.	T	0.11410	0.0278	N	0.08118	0	0.09310	N	1	D	0.60160	0.987	B	0.40636	0.335	T	0.22208	-1.0223	7	.	.	.	.	6.9306	0.24439	0.0:0.1635:0.2491:0.5874	.	96	A4D0T2	CG066_HUMAN	W	96	.	.	R	-	1	2	C7orf66	108311362	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.574000	0.05868	-1.644000	0.01517	-0.248000	0.11899	CGG		0.348	C7orf66-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337420.1	NM_001024607		14	67	0	0	0	1	0	14	67					A	108524126	G	A	108524126	3	1	204	1	0	0	0	0	1	0	0	0	2412	1144	40	1	65	1	C7orf66	7	108524126	Missense_Mutation	SNP	G	TCGA-HC-7212-01A-11D-2114-08	8492966	108524126	50614537	14	9377											
LMOD2	442721	broad.mit.edu	37	chr7	123301995	123301997	+	In_Frame_Del	DEL	GAG	GAG	-																															tttctgaggaagtgtatacaGaggaggaggaggaggagtcc																										TCGA-HC-7212-01A-11D-2114-08	TCGA-HC-7212-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41815e8f-0332-4826-90c9-ee944f3887a0	4bbff9a5-b19a-4c1c-ae0f-dba68d92e01c	g.chr7:123301995_123301997delGAG	ENST00000458573.2	+	2	512_514	c.355_357delGAG	c.(355-357)gagdel	p.E124del	LMOD2_ENST00000456238.2_Intron	NM_207163.1	NP_997046.1	Q6P5Q4	LMOD2_HUMAN	leiomodin 2 (cardiac)	124	Glu-rich.					cytoskeleton (GO:0005856)											AGTGTATACAgaggaggaggagg	0.409																																						ENST00000458573.2																			0											c.(355-357)del		leiomodin 2 (cardiac)				66,3558		3,60,1749						-9.4	0			37	117,7687		5,107,3790	no	coding	LMOD2	NM_207163.1		8,167,5539	A1A1,A1R,RR		1.4992,1.8212,1.6013				183,11245				SO:0001651	inframe_deletion	442721					cytoskeleton	actin binding|tropomyosin binding	g.chr7:123301995_123301997delGAG	AC006333	CCDS47693.1	7q31.32	2008-08-08			ENSG00000170807	ENSG00000170807			6648	protein-coding gene	gene with protein product		608006					Standard	NM_207163		Approved		uc003vky.2	Q6P5Q4	OTTHUMG00000157149	ENST00000458573.2:c.355_357delGAG	7.37:g.123302004_123302006delGAG	ENSP00000411932:p.Glu124del					LMOD2_ENST00000456238.2_Intron	p.E124del	NM_207163.1	NP_997046.1	Q6P5Q4	LMOD2_HUMAN			2	512_514	+			124			Glu-rich.		A4D0W9|A4D0Y2|Q8WVJ8	In_Frame_Del	DEL	ENST00000458573.2	37	c.355_357delGAG	CCDS47693.1																																																																																				0.409	LMOD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348525.1			2	4						2	4	---	---	---	---	-	123301997	GAG	-	123301995	7	5	204	1	0	1	0	1	0	0	0	0	8857	943	33	0	361	0	LMOD2	7	123301995	In_Frame_Del	DEL	GAG	TCGA-HC-7212-01A-11D-2114-08	14777869	123301995	35836668	15	9378											
DLGAP2	9228	broad.mit.edu	37	chr8	1645355	1645355	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgacgtcgcaggacctggccGgctactgggacatgctgcag	7	6	15	13	4	0	0	0	0	0	0	1	3	0	2	2	4	3	4	2	4	1	1			TCGA-HC-7212-01A-11D-2114-08	TCGA-HC-7212-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41815e8f-0332-4826-90c9-ee944f3887a0	4bbff9a5-b19a-4c1c-ae0f-dba68d92e01c	g.chr8:1645355G>A	ENST00000421627.2	+	11	2733	c.2599G>A	c.(2599-2601)Ggc>Agc	p.G867S		NM_004745.3	NP_004736.2	Q9P1A6	DLGP2_HUMAN	discs, large (Drosophila) homolog-associated protein 2	946					neuron-neuron synaptic transmission (GO:0007270)	cell junction (GO:0030054)|neurofilament (GO:0005883)|postsynaptic membrane (GO:0045211)				breast(1)|endometrium(6)|lung(31)|prostate(3)	41		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)		GGACCTGGCCGGCTACTGGGA	0.647																																						ENST00000421627.2																			0				breast(1)|endometrium(6)|lung(31)|prostate(3)	41						c.(2599-2601)Ggc>Agc		discs, large (Drosophila) homolog-associated protein 2							31	36	34					8																	1645355		2000	4159	6159	SO:0001583	missense	9228				neuron-neuron synaptic transmission	cell junction|neurofilament|postsynaptic density|postsynaptic membrane	protein binding	g.chr8:1645355G>A	AB000275	CCDS47760.1, CCDS75689.1	8p23	2007-12-06	2001-11-28		ENSG00000198010	ENSG00000198010			2906	protein-coding gene	gene with protein product		605438	"discs, large (Drosophila) homolog-associated protein 2"			9286858, 10854099	Standard	NM_004745		Approved	DAP-2	uc003wpl.4	Q9P1A6	OTTHUMG00000163599	ENST00000421627.2:c.2599G>A	8.37:g.1645355G>A	ENSP00000400258:p.Gly867Ser						p.G867S	NM_004745.3	NP_004736.2	Q9P1A6	DLGP2_HUMAN		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)	11	2733	+		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)	946					A1QCF8|A1QCF9|A5D8Y2|O14488|O14664|Q9P1A7	Missense_Mutation	SNP	ENST00000421627.2	37	c.2599G>A	CCDS47760.1	.	.	.	.	.	.	.	.	.	.	G	35	5.497033	0.96355	.	.	ENSG00000198010	ENST00000356067;ENST00000421627	T	0.41065	1.01	4.91	4.91	0.64330	.	0.000000	0.85682	D	0.000000	T	0.71022	0.3291	M	0.88377	2.95	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.998	T	0.77739	-0.2475	10	0.62326	D	0.03	-19.6876	18.0887	0.89466	0.0:0.0:1.0:0.0	.	932;946	Q9P1A6-2;Q9P1A6	.;DLGP2_HUMAN	S	898;867	ENSP00000400258:G867S	ENSP00000348366:G898S	G	+	1	0	DLGAP2	1632762	1.000000	0.71417	0.986000	0.45419	0.985000	0.73830	9.330000	0.96422	2.270000	0.75569	0.561000	0.74099	GGC		0.647	DLGAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374478.1	NM_004745		3	31	0	0	0	1	0	3	31					A	1645355	G	A	1645355	3	1	204	1	0	0	0	0	1	0	0	0	4560	1116	39	2	2637	2	DLGAP2	8	1645355	Missense_Mutation	SNP	G	TCGA-HC-7212-01A-11D-2114-08		1645355	144718667	16	9379											
ANK1	286	broad.mit.edu	37	chr8	41529904	41529904	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctctccgtcacctgactcacGgtgggggaatgtgtgattcg	6	11	13	11	3	3	2	2	2	1	0	5	3	3	3	2	3	0	0	2	3	1	1			TCGA-HC-7212-01A-11D-2114-08	TCGA-HC-7212-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41815e8f-0332-4826-90c9-ee944f3887a0	4bbff9a5-b19a-4c1c-ae0f-dba68d92e01c	g.chr8:41529904G>A	ENST00000347528.4	-	38	5147	c.5064C>T	c.(5062-5064)acC>acT	p.T1688T	ANK1_ENST00000379758.2_Silent_p.T1688T|ANK1_ENST00000396942.1_Silent_p.T1688T|ANK1_ENST00000396945.1_Silent_p.T1688T|ANK1_ENST00000352337.4_Silent_p.T1688T|ANK1_ENST00000289734.7_Silent_p.T1688T|ANK1_ENST00000265709.8_Silent_p.T1729T	NM_020475.2|NM_020476.2|NM_020477.2	NP_065208.2|NP_065209.2|NP_065210.2	P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	1688	55 kDa regulatory domain.				axon guidance (GO:0007411)|cytoskeleton organization (GO:0007010)|ER to Golgi vesicle-mediated transport (GO:0006888)|erythrocyte development (GO:0048821)|exocytosis (GO:0006887)|maintenance of epithelial cell apical/basal polarity (GO:0045199)|monovalent inorganic cation transport (GO:0015672)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of organelle organization (GO:0010638)|protein targeting to plasma membrane (GO:0072661)|signal transduction (GO:0007165)	axolemma (GO:0030673)|basolateral plasma membrane (GO:0016323)|cortical cytoskeleton (GO:0030863)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|M band (GO:0031430)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|cytoskeletal adaptor activity (GO:0008093)|enzyme binding (GO:0019899)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			CCTGACTCACGGTGGGGGAAT	0.567																																						ENST00000396942.1																			0				breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122						c.(5062-5064)acC>acT		ankyrin 1, erythrocytic							112	103	106					8																	41529904		2203	4300	6503	SO:0001819	synonymous_variant	286				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton	g.chr8:41529904G>A	M28880	CCDS6119.1, CCDS6121.1, CCDS6122.1, CCDS47849.1, CCDS55227.1	8p11.21	2013-01-10			ENSG00000029534	ENSG00000029534		"Ankyrin repeat domain containing"	492	protein-coding gene	gene with protein product		612641		ANK		1689849	Standard	NM_001142445		Approved	SPH1	uc003xom.3	P16157	OTTHUMG00000150281	ENST00000347528.4:c.5064C>T	8.37:g.41529904G>A						ANK1_ENST00000396945.1_Silent_p.T1688T|ANK1_ENST00000347528.4_Silent_p.T1688T|ANK1_ENST00000379758.2_Silent_p.T1688T|ANK1_ENST00000265709.8_Silent_p.T1729T|ANK1_ENST00000352337.4_Silent_p.T1688T|ANK1_ENST00000289734.7_Silent_p.T1688T	p.T1688T			P16157	ANK1_HUMAN	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)		38	5147	-	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	1688			55 kDa regulatory domain.		A0PJN8|A6NJ23|E5RFL7|O43400|Q13768|Q53ER1|Q59FP2|Q8N604|Q99407	Silent	SNP	ENST00000347528.4	37	c.5064C>T	CCDS6119.1	.	.	.	.	.	.	.	.	.	.	G	3.411	-0.120134	0.06838	.	.	ENSG00000029534	ENST00000520299	.	.	.	5.18	-0.797	0.10909	.	.	.	.	.	T	0.43590	0.1254	.	.	.	0.51482	D	0.999921	.	.	.	.	.	.	T	0.27157	-1.0082	4	.	.	.	.	3.9334	0.09296	0.3342:0.0:0.3952:0.2706	.	.	.	.	C	848	.	.	R	-	1	0	ANK1	41649061	0.000000	0.05858	0.143000	0.22291	0.670000	0.39368	-0.585000	0.05794	0.007000	0.14760	0.545000	0.68477	CGT		0.567	ANK1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317297.1	NM_020475		3	52	0	0	0	1	0	3	52					A	41529904	G	A	41529904	2	1	204	1	0	0	0	0	0	0	0	1	620	1103	39	2		2	ANK1	8	41529904	Silent	SNP	G	TCGA-HC-7212-01A-11D-2114-08	39884549	41529904	104834118	17	9380											
IPPK	64768	broad.mit.edu	37	chr9	95418828	95418828	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aggtgttgaaatatctcttcCgaggtctgtaagagacaacc	12	11	10	8	1	2	2	0	1	2	1	4	4	3	2	2	2	1	2	2	2	4	4			TCGA-HC-7212-01A-11D-2114-08	TCGA-HC-7212-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41815e8f-0332-4826-90c9-ee944f3887a0	4bbff9a5-b19a-4c1c-ae0f-dba68d92e01c	g.chr9:95418828C>T	ENST00000287996.3	-	3	411	c.135G>A	c.(133-135)tcG>tcA	p.S45S		NM_022755.5	NP_073592.1	Q9H8X2	IPPK_HUMAN	inositol 1,3,4,5,6-pentakisphosphate 2-kinase	45					inositol phosphate metabolic process (GO:0043647)|inositol phosphorylation (GO:0052746)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|intracellular (GO:0005622)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|inositol pentakisphosphate 2-kinase activity (GO:0035299)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(2)|urinary_tract(1)	15						ATATCTCTTCCGAGGTCTGTA	0.493																																						ENST00000287996.3																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(2)|urinary_tract(1)	15						c.(133-135)tcG>tcA		inositol 1,3,4,5,6-pentakisphosphate 2-kinase							105	101	103					9																	95418828		2203	4300	6503	SO:0001819	synonymous_variant	64768				inositol or phosphatidylinositol phosphorylation	cytoplasm|nucleus	ATP binding|inositol pentakisphosphate 2-kinase activity	g.chr9:95418828C>T	AK023225	CCDS6699.1	9q22.31	2010-12-02	2005-10-20	2005-10-20	ENSG00000127080	ENSG00000127080			14645	protein-coding gene	gene with protein product			"chromosome 9 open reading frame 12"	C9orf12		12084730	Standard	NM_022755		Approved	INSP5K2, FLJ13163, IP5K, IPK1	uc004asl.1	Q9H8X2	OTTHUMG00000020231	ENST00000287996.3:c.135G>A	9.37:g.95418828C>T							p.S45S	NM_022755.5	NP_073592.1	Q9H8X2	IPPK_HUMAN			3	411	-			45					Q5T9F7|Q9H7V8	Silent	SNP	ENST00000287996.3	37	c.135G>A	CCDS6699.1																																																																																				0.493	IPPK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053101.1	NM_022755		5	62	0	0	0	1	0	5	62					T	95418828	C	T	95418828	2	4	204	1	0	0	0	0	0	0	0	1	7801	639	23	2		2	IPPK	9	95418828	Silent	SNP	C	TCGA-HC-7212-01A-11D-2114-08		95418828	45794603	18	9381											
ZNF79	7633	broad.mit.edu	37	chr9	130191138	130191138	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ttccccaggccctgcccttcCccaagaggaaaacacaggag	11	5	9	16	0	0	1	0	0	0	1	2	3	2	3	6	3	2	0	6	3	3	2			TCGA-HC-7212-01A-11D-2114-08	TCGA-HC-7212-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41815e8f-0332-4826-90c9-ee944f3887a0	4bbff9a5-b19a-4c1c-ae0f-dba68d92e01c	g.chr9:130191138C>T	ENST00000342483.5	+	2	450	c.44C>T	c.(43-45)cCc>cTc	p.P15L	ZNF79_ENST00000543471.1_5'UTR	NM_007135.2	NP_009066.2	Q15937	ZNF79_HUMAN	zinc finger protein 79	15					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|stomach(2)	28						CCTGCCCTTCCCCAAGAGGAA	0.478																																						ENST00000342483.5																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|stomach(2)	28						c.(43-45)cCc>cTc		zinc finger protein 79							56	58	57					9																	130191138		2203	4300	6503	SO:0001583	missense	7633				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:130191138C>T	X65232	CCDS6871.1, CCDS69664.1, CCDS75904.1	9q34	2013-01-08	2006-05-12		ENSG00000196152	ENSG00000196152		"Zinc fingers, C2H2-type"	13153	protein-coding gene	gene with protein product		194552	"zinc finger protein 79 (pT7)"			8478004	Standard	NM_007135		Approved	pT7	uc004bqw.4	Q15937	OTTHUMG00000020703	ENST00000342483.5:c.44C>T	9.37:g.130191138C>T	ENSP00000362446:p.Pro15Leu					ZNF79_ENST00000543471.1_5'UTR	p.P15L	NM_007135.2	NP_009066.2	Q15937	ZNF79_HUMAN			2	450	+			15					Q5VVW1|Q96NV1	Missense_Mutation	SNP	ENST00000342483.5	37	c.44C>T	CCDS6871.1	.	.	.	.	.	.	.	.	.	.	C	9.808	1.182495	0.21870	.	.	ENSG00000196152	ENST00000342483	T	0.06687	3.27	3.77	0.743	0.18347	.	.	.	.	.	T	0.04998	0.0134	L	0.32530	0.975	0.09310	N	0.999999	B	0.02656	0.0	B	0.01281	0.0	T	0.47275	-0.9130	9	0.08381	T	0.77	.	3.9323	0.09292	0.0:0.5702:0.1994:0.2303	.	15	Q15937	ZNF79_HUMAN	L	15	ENSP00000362446:P15L	ENSP00000362446:P15L	P	+	2	0	ZNF79	129230959	0.000000	0.05858	0.000000	0.03702	0.110000	0.19582	-0.022000	0.12480	0.048000	0.15891	-0.140000	0.14226	CCC		0.478	ZNF79-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054188.1	NM_007135		5	17	0	0	0	1	0	5	17					T	130191138	C	T	130191138	3	4	204	1	0	0	0	0	1	0	0	0	18158	623	22	3	50	3	ZNF79	9	130191138	Missense_Mutation	SNP	C	TCGA-HC-7212-01A-11D-2114-08	34772310	130191138	11022293	19	9382											
WDR37	22884	broad.mit.edu	37	chr10	1142152	1142152	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatctggagatacgcggtgcAgctgccgacaccccagcctg	8	7	12	14	3	1	1	0	0	1	1	1	3	1	1	4	2	5	2	4	2	2	2			TCGA-HC-7212-01A-11D-2114-08	TCGA-HC-7212-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41815e8f-0332-4826-90c9-ee944f3887a0	4bbff9a5-b19a-4c1c-ae0f-dba68d92e01c	g.chr10:1142152A>G	ENST00000358220.1	+	9	836	c.692A>G	c.(691-693)cAg>cGg	p.Q231R	WDR37_ENST00000263150.4_Missense_Mutation_p.Q231R|WDR37_ENST00000381329.1_Missense_Mutation_p.Q231R			Q9Y2I8	WDR37_HUMAN	WD repeat domain 37	231										breast(2)|endometrium(2)|kidney(1)|lung(9)|prostate(2)|skin(1)	17		all_epithelial(10;0.0449)|Colorectal(49;0.142)		Epithelial(11;0.134)		TACGCGGTGCAGCTGCCGACA	0.488																																						ENST00000358220.1																			0				breast(2)|endometrium(2)|kidney(1)|lung(9)|prostate(2)|skin(1)	17						c.(691-693)cAg>cGg		WD repeat domain 37							125	108	114					10																	1142152		2203	4300	6503	SO:0001583	missense	22884							g.chr10:1142152A>G	AB023199	CCDS7057.1	10p15.3	2013-01-09			ENSG00000047056	ENSG00000047056		"WD repeat domain containing"	31406	protein-coding gene	gene with protein product						10231032, 11230166	Standard	NM_014023		Approved	KIAA0982	uc001igf.1	Q9Y2I8	OTTHUMG00000017540	ENST00000358220.1:c.692A>G	10.37:g.1142152A>G	ENSP00000350954:p.Gln231Arg					WDR37_ENST00000263150.4_Missense_Mutation_p.Q231R|WDR37_ENST00000381329.1_Missense_Mutation_p.Q231R	p.Q231R			Q9Y2I8	WDR37_HUMAN		Epithelial(11;0.134)	9	836	+		all_epithelial(10;0.0449)|Colorectal(49;0.142)	231					A8K976|D3DRQ7|Q5SW03|Q8WVG2|Q9NTJ6	Missense_Mutation	SNP	ENST00000358220.1	37	c.692A>G	CCDS7057.1	.	.	.	.	.	.	.	.	.	.	A	19.20	3.782300	0.70222	.	.	ENSG00000047056	ENST00000358220;ENST00000381329;ENST00000263150;ENST00000436154	T;T;T;T	0.73575	0.05;-0.65;0.05;-0.76	5.5	5.5	0.81552	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.106892	0.64402	D	0.000003	T	0.66076	0.2753	N	0.24115	0.695	0.80722	D	1	P;P;P	0.48230	0.828;0.828;0.907	B;B;B	0.44224	0.221;0.3;0.444	T	0.69917	-0.5015	10	0.49607	T	0.09	.	15.607	0.76682	1.0:0.0:0.0:0.0	.	231;231;231	A8K976;Q9Y2I8;E7EQ49	.;WDR37_HUMAN;.	R	231;231;231;198	ENSP00000350954:Q231R;ENSP00000370730:Q231R;ENSP00000263150:Q231R;ENSP00000404346:Q198R	ENSP00000263150:Q231R	Q	+	2	0	WDR37	1132152	1.000000	0.71417	0.998000	0.56505	0.964000	0.63967	9.201000	0.95017	2.091000	0.63221	0.523000	0.50628	CAG		0.488	WDR37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046418.1	NM_014023		8	66	0	0	0	1	0	8	66					G	1142152	A	G	1142152	3	3	204	1	0	0	0	0	1	0	0	0	17288	188	7	4	722	4	WDR37	10	1142152	Missense_Mutation	SNP	A	TCGA-HC-7212-01A-11D-2114-08		1142152	134392595	20	9383											
CAMK1D	57118	broad.mit.edu	37	chr10	12595224	12595224	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttttccttctttgttcacagCggggccttttccgaagtggt	4	17	10	10	2	2	0	1	0	1	0	4	1	4	0	3	3	1	1	3	3	1	7			TCGA-HC-7212-01A-11D-2114-08	TCGA-HC-7212-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41815e8f-0332-4826-90c9-ee944f3887a0	4bbff9a5-b19a-4c1c-ae0f-dba68d92e01c	g.chr10:12595224C>T	ENST00000378847.3	+	2	430	c.93C>T	c.(91-93)acC>acT	p.T31T	CAMK1D_ENST00000487696.1_Intron|CAMK1D_ENST00000378845.1_Splice_Site_p.T31T	NM_153498.2	NP_705718.1	Q8IU85	KCC1D_HUMAN	calcium/calmodulin-dependent protein kinase ID	31	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				inflammatory response (GO:0006954)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of neuron projection development (GO:0010976)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of phagocytosis (GO:0050766)|positive regulation of respiratory burst (GO:0060267)|regulation of dendrite development (GO:0050773)|regulation of granulocyte chemotaxis (GO:0071622)	calcium- and calmodulin-dependent protein kinase complex (GO:0005954)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)			endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|stomach(1)	16				GBM - Glioblastoma multiforme(1;3.16e-05)		TTGTTCACAGCGGGGCCTTTT	0.463																																						ENST00000378847.3																			0				endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|stomach(1)	16						c.e2-1		calcium/calmodulin-dependent protein kinase ID							156	147	150					10																	12595224		2203	4300	6503	SO:0001630	splice_region_variant	57118					calcium- and calmodulin-dependent protein kinase complex|cytoplasm|nucleus	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity	g.chr10:12595224C>T	AF286366	CCDS7091.1, CCDS7092.1	10p13	2003-11-05			ENSG00000183049	ENSG00000183049			19341	protein-coding gene	gene with protein product		607957				11050006	Standard	XM_006717481		Approved	CKLiK	uc001ilo.3	Q8IU85	OTTHUMG00000017683	ENST00000378847.3:c.93-1C>T	10.37:g.12595224C>T						CAMK1D_ENST00000378845.1_Splice_Site_p.T31_splice|CAMK1D_ENST00000487696.1_Intron	p.T31_splice	NM_153498.2	NP_705718.1	Q8IU85	KCC1D_HUMAN		GBM - Glioblastoma multiforme(1;3.16e-05)	2	430	+			31			Protein kinase.		B0YIY0|Q9HD31	Splice_Site	SNP	ENST00000378847.3	37	c.92_splice	CCDS7091.1																																																																																				0.463	CAMK1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046820.1	NM_020397	Silent	4	65	0	0	0	1	0	4	65					T	12595224	C	T	12595224	5	4	204	1	0	0	0	0	0	0	1	0	2597	782	27	1	99	1	CAMK1D	10	12595224	Splice_Site	SNP	C	TCGA-HC-7212-01A-11D-2114-08	11453072	12595224	122939523	21	9384											
PTEN	5728	broad.mit.edu	37	chr10	89720833	89720833	+	Frame_Shift_Del	DEL	A	A	-																															aaaaatgatcttgacaaagcAaataaagacaaagccaaccg																								rs587782304		TCGA-HC-7212-01A-11D-2114-08	TCGA-HC-7212-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41815e8f-0332-4826-90c9-ee944f3887a0	4bbff9a5-b19a-4c1c-ae0f-dba68d92e01c	g.chr10:89720833delA	ENST00000371953.3	+	8	2341	c.984delA	c.(982-984)gcafs	p.A328fs	PTEN_ENST00000472832.1_3'UTR	NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	328	C2 tensin-type. {ECO:0000255|PROSITE- ProRule:PRU00589}.				activation of mitotic anaphase-promoting complex activity (GO:0007092)|aging (GO:0007568)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|brain morphogenesis (GO:0048854)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle tissue development (GO:0048738)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|central nervous system myelin maintenance (GO:0032286)|central nervous system neuron axonogenesis (GO:0021955)|dendritic spine morphogenesis (GO:0060997)|dentate gyrus development (GO:0021542)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|innate immune response (GO:0045087)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|learning or memory (GO:0007611)|locomotor rhythm (GO:0045475)|locomotory behavior (GO:0007626)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|male mating behavior (GO:0060179)|maternal behavior (GO:0042711)|memory (GO:0007613)|multicellular organismal response to stress (GO:0033555)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell aging (GO:0090344)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031658)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myelination (GO:0031642)|negative regulation of organ growth (GO:0046621)|negative regulation of phagocytosis (GO:0050765)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of ribosome biogenesis (GO:0090071)|negative regulation of synaptic vesicle clustering (GO:2000808)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell proliferation (GO:0008284)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|postsynaptic density assembly (GO:0097107)|prepulse inhibition (GO:0060134)|presynaptic membrane assembly (GO:0097105)|prostate gland growth (GO:0060736)|protein dephosphorylation (GO:0006470)|protein kinase B signaling (GO:0043491)|protein stabilization (GO:0050821)|regulation of B cell apoptotic process (GO:0002902)|regulation of cellular component size (GO:0032535)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of neuron projection development (GO:0010975)|regulation of protein stability (GO:0031647)|response to arsenic-containing substance (GO:0046685)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse maturation (GO:0060074)|T cell receptor signaling pathway (GO:0050852)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|myelin sheath adaxonal region (GO:0035749)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)	anaphase-promoting complex binding (GO:0010997)|enzyme binding (GO:0019899)|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity (GO:0051717)|lipid binding (GO:0008289)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity (GO:0051800)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.0?(37)|p.R55fs*1(5)|p.?(2)|p.N212fs*1(2)|p.Y27fs*1(2)|p.T319_K332del(1)|p.G165_*404del(1)|p.A328fs*15(1)|p.W274_F341del(1)|p.A328fs*1(1)|p.D326_K342del(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		TTGACAAAGCAAATAAAGACA	0.328		31	"D, Mis, N, F, S"		"glioma,  prostate, endometrial"	"harmartoma, glioma,  prostate, endometrial"			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																												ENST00000371953.3		31	yes	Rec	yes	"Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"	10	10q23.3	5728	"D, Mis, N, F, S"	phosphatase and tensin homolog gene			"L, E, M, O"		"harmartoma, glioma,  prostate, endometrial"	"glioma,  prostate, endometrial"		54	Whole gene deletion(37)|Deletion - Frameshift(11)|Deletion - In frame(4)|Unknown(2)	p.0?(37)|p.R55fs*1(5)|p.?(2)|p.N212fs*1(2)|p.Y27fs*1(2)|p.T319_K332del(1)|p.G165_*404del(1)|p.A328fs*15(1)|p.W274_F341del(1)|p.A328fs*1(1)|p.D326_K342del(1)	prostate(16)|central_nervous_system(13)|skin(6)|lung(4)|haematopoietic_and_lymphoid_tissue(3)|endometrium(3)|breast(3)|ovary(3)|urinary_tract(2)|soft_tissue(1)	NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771						c.(982-984)gcfs		phosphatase and tensin homolog							73	76	75					10																	89720833		2203	4297	6500	SO:0001589	frameshift_variant	5728	Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	Familial Cancer Database	Incl.: Encephalocraniocutaneous Lipomatosis, ECCL, Proteus-like s.;incl.: Juvenile Polyposis of the Stomach;HMPS1, Colorectal Adenoma Carcinoma syndrome, CRAC, CRAC1;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;subset of PTEN-Hamartoma Tumor Syndrome; incl.: Ruvalcaba-Myhre-Smith s.	activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr10:89720833delA	U92436	CCDS31238.1	10q23	2014-09-17	2008-07-31		ENSG00000171862	ENSG00000171862		"Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"	9588	protein-coding gene	gene with protein product	"mutated in multiple advanced cancers 1"	601728		BZS, MHAM		9090379	Standard	NM_000314		Approved	MMAC1, TEP1, PTEN1	uc001kfb.3	P60484	OTTHUMG00000018688	ENST00000371953.3:c.984delA	10.37:g.89720833delA	ENSP00000361021:p.Ala328fs	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)				PTEN_ENST00000472832.1_3'UTR	p.A328fs	NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)	8	2341	+		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	328			C2 tensin-type.		B2R904|F2YHV0|O00633|O02679|Q6ICT7	Frame_Shift_Del	DEL	ENST00000371953.3	37	c.984delA	CCDS31238.1																																																																																				0.328	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1	NM_000314		21	74						21	74	---	---	---	---	-	89720833	A	-	89720833	7	5	204	1	0	1	0	1	0	0	0	0	12738	117	5	0	1014	0	PTEN	10	89720833	Frame_Shift_Del	DEL	A	TCGA-HC-7212-01A-11D-2114-08	77125609	89720833	45813914	22	9385											
RASSF7	8045	broad.mit.edu	37	chr11	562264	562264	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	cagacagctgtccacccccgGaacgctgcctaattcgtgcc	8	7	9	17	3	0	1	0	0	0	1	2	2	1	2	5	1	4	2	5	1	2	2			TCGA-HC-7212-01A-11D-2114-08	TCGA-HC-7212-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41815e8f-0332-4826-90c9-ee944f3887a0	4bbff9a5-b19a-4c1c-ae0f-dba68d92e01c	g.chr11:562264G>A	ENST00000397583.3	+	3	743	c.310G>A	c.(310-312)Gaa>Aaa	p.E104K	RP11-496I9.1_ENST00000527620.1_RNA|RASSF7_ENST00000454668.2_Missense_Mutation_p.E104K|RASSF7_ENST00000431809.1_Missense_Mutation_p.E104K|RASSF7_ENST00000524468.1_3'UTR|RASSF7_ENST00000397582.3_Missense_Mutation_p.E104K|RASSF7_ENST00000344375.4_Missense_Mutation_p.E104K|C11orf35_ENST00000329451.3_5'Flank|RP11-496I9.1_ENST00000527113.1_RNA	NM_003475.3	NP_003466.1	Q02833	RASF7_HUMAN	Ras association (RalGDS/AF-6) domain family (N-terminal) member 7	104					apoptotic process (GO:0006915)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|skin(3)	8		all_cancers(49;2.16e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;7.18e-28)|Epithelial(43;6.93e-27)|OV - Ovarian serous cystadenocarcinoma(40;6.97e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		TCCACCCCCGGAACGCTGCCT	0.667																																					Pancreas(184;1170 3913 7268)	ENST00000397583.3																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|skin(3)	8						c.(310-312)Gaa>Aaa		Ras association (RalGDS/AF-6) domain family (N-terminal) member 7							43	43	43					11																	562264		2202	4300	6502	SO:0001583	missense	8045				regulation of transcription, DNA-dependent|signal transduction	nucleus	DNA binding|protein binding	g.chr11:562264G>A	M91083	CCDS7702.1, CCDS44505.1, CCDS44506.1	11p15.5	2008-02-22	2008-02-22	2005-09-14	ENSG00000099849	ENSG00000099849			1166	protein-coding gene	gene with protein product		143023	"chromosome 11 open reading frame 13"	C11orf13		1339391	Standard	NM_001143993		Approved	HRC1, HRAS1	uc001lqc.3	Q02833	OTTHUMG00000132004	ENST00000397583.3:c.310G>A	11.37:g.562264G>A	ENSP00000380713:p.Glu104Lys					RASSF7_ENST00000344375.4_Missense_Mutation_p.E104K|RASSF7_ENST00000454668.2_Missense_Mutation_p.E104K|RASSF7_ENST00000431809.1_Missense_Mutation_p.E104K|RASSF7_ENST00000524468.1_3'UTR|RASSF7_ENST00000397582.3_Missense_Mutation_p.E104K	p.E104K	NM_003475.3	NP_003466.1	Q02833	RASF7_HUMAN		all cancers(45;7.18e-28)|Epithelial(43;6.93e-27)|OV - Ovarian serous cystadenocarcinoma(40;6.97e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)	3	743	+		all_cancers(49;2.16e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)	104					G5E9N9|Q3KP41|Q3KP42	Missense_Mutation	SNP	ENST00000397583.3	37	c.310G>A	CCDS7702.1	.	.	.	.	.	.	.	.	.	.	G	13.40	2.225285	0.39300	.	.	ENSG00000099849	ENST00000431809;ENST00000397582;ENST00000344375;ENST00000397583;ENST00000454668	T;T;T;T;T	0.35973	1.31;1.31;1.28;1.28;1.36	3.48	3.48	0.39840	.	0.124193	0.52532	D	0.000064	T	0.43897	0.1268	N	0.24115	0.695	0.09310	N	0.999993	D;D;D	0.71674	0.998;0.997;0.998	D;D;D	0.78314	0.991;0.98;0.991	T	0.34354	-0.9832	10	0.30854	T	0.27	-2.9215	15.5537	0.76173	0.0:0.0:1.0:0.0	.	104;104;104	G5E9N9;Q02833;Q02833-2	.;RASF7_HUMAN;.	K	104	ENSP00000403068:E104K;ENSP00000380712:E104K;ENSP00000344226:E104K;ENSP00000380713:E104K;ENSP00000405606:E104K	ENSP00000344226:E104K	E	+	1	0	RASSF7	552264	1.000000	0.71417	0.735000	0.30896	0.033000	0.12548	5.078000	0.64425	1.975000	0.57531	0.561000	0.74099	GAA		0.667	RASSF7-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254972.2	NM_003475		5	49	0	0	0	1	0	5	49					A	562264	G	A	562264	3	1	204	1	0	0	0	0	1	0	0	0	13091	1175	41	3	316	3	RASSF7	11	562264	Missense_Mutation	SNP	G	TCGA-HC-7212-01A-11D-2114-08		562264	134444252	23	9386											
HBG2	3048	broad.mit.edu	37	chr11	5275612	5275612	+	Frame_Shift_Del	DEL	G	G	-																															agatcatccaggtgctttatGgcatctcccaaggaagtcag																										TCGA-HC-7212-01A-11D-2114-08	TCGA-HC-7212-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41815e8f-0332-4826-90c9-ee944f3887a0	4bbff9a5-b19a-4c1c-ae0f-dba68d92e01c	g.chr11:5275612delG	ENST00000380259.2	-	7	1465	c.225delC	c.(223-225)gccfs	p.A75fs	HBG2_ENST00000336906.4_Frame_Shift_Del_p.A75fs|HBG2_ENST00000380252.1_Frame_Shift_Del_p.A65fs			P69892	HBG2_HUMAN	hemoglobin, gamma G	75					blood coagulation (GO:0007596)	blood microparticle (GO:0072562)|cytosol (GO:0005829)|hemoglobin complex (GO:0005833)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxygen binding (GO:0019825)|oxygen transporter activity (GO:0005344)			endometrium(1)|large_intestine(2)|lung(7)|prostate(1)|skin(2)	13		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.76e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GGTGCTTTATGGCATCTCCCA	0.527																																						ENST00000380259.2																			0				endometrium(1)|large_intestine(2)|lung(7)|prostate(1)|skin(2)	13						c.(223-225)gcfs		hemoglobin, gamma G							383	298	327					11																	5275612		2201	4298	6499	SO:0001589	frameshift_variant	3048							g.chr11:5275612delG	BC029387	CCDS7755.1	11p15.5	2014-05-19			ENSG00000196565	ENSG00000196565			4832	protein-coding gene	gene with protein product		142250				2649166	Standard	NM_000184		Approved	HBG-T1		P69892	OTTHUMG00000066673	ENST00000380259.2:c.225delC	11.37:g.5275612delG	ENSP00000369609:p.Ala75fs					HBG2_ENST00000336906.4_Frame_Shift_Del_p.A75fs|HBG2_ENST00000380252.1_Frame_Shift_Del_p.A65fs	p.A75fs						Epithelial(150;2.76e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	7	1465	-		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)						A8MZE0|P02096|P62027|Q14491|Q68NH9|Q96FH6|Q96FH7	Frame_Shift_Del	DEL	ENST00000380259.2	37	c.225delC	CCDS7755.1																																																																																				0.527	HBG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142967.2	NM_000184		11	217						11	217	---	---	---	---	-	5275612	G	-	5275612	7	5	204	1	0	1	0	1	0	0	0	0	6983	1335	47	0	226	0	HBG2	11	5275612	Frame_Shift_Del	DEL	G	TCGA-HC-7212-01A-11D-2114-08	4713348	5275612	129730904	24	9387											
TRIM6	117854	broad.mit.edu	37	chr11	5632556	5632556	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtaattcctatgaccctgcGtcgtccaagctcttgaatat	9	14	7	11	2	1	2	0	2	1	0	4	2	3	2	3	0	2	2	3	0	5	5			TCGA-HC-7212-01A-11D-2114-08	TCGA-HC-7212-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41815e8f-0332-4826-90c9-ee944f3887a0	4bbff9a5-b19a-4c1c-ae0f-dba68d92e01c	g.chr11:5632556G>A	ENST00000278302.5	+	8	1591	c.1451G>A	c.(1450-1452)cGt>cAt	p.R484H	TRIM6_ENST00000506134.1_Missense_Mutation_p.R309H|TRIM6-TRIM34_ENST00000354852.5_Intron|TRIM6_ENST00000445329.1_Missense_Mutation_p.R309H|TRIM6_ENST00000507320.1_Missense_Mutation_p.R309H|TRIM6_ENST00000515022.1_Missense_Mutation_p.R309H|TRIM6_ENST00000380107.1_Missense_Mutation_p.R458H|HBG2_ENST00000380259.2_Intron|AC015691.13_ENST00000394793.2_RNA|TRIM6_ENST00000380097.3_Missense_Mutation_p.R512H|TRIM6_ENST00000481603.1_3'UTR	NM_001198645.1|NM_058166.4	NP_001185574.1|NP_477514.1	Q9C030	TRIM6_HUMAN	tripartite motif containing 6	484	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				protein trimerization (GO:0070206)	cytoplasm (GO:0005737)	zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(5)|prostate(2)|stomach(1)	22		Lung NSC(207;2.23e-07)|all_lung(207;1.81e-06)|Medulloblastoma(188;0.00225)|Breast(177;0.0101)|all_neural(188;0.0212)		Epithelial(150;1.12e-45)|BRCA - Breast invasive adenocarcinoma(625;0.00101)|LUSC - Lung squamous cell carcinoma(625;0.192)		ATGACCCTGCGTCGTCCAAGC	0.413																																						ENST00000380097.3																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(5)|prostate(2)|stomach(1)	22						c.(1534-1536)cGt>cAt		tripartite motif containing 6							113	112	113					11																	5632556		2201	4297	6498	SO:0001583	missense	117854							g.chr11:5632556G>A	AF220030	CCDS31389.1, CCDS31390.1, CCDS55738.1	11p15	2013-01-09	2011-01-25		ENSG00000121236	ENSG00000121236		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	16277	protein-coding gene	gene with protein product		607564	"tripartite motif-containing 6"			11331580	Standard	NM_058166		Approved	RNF89		Q9C030	OTTHUMG00000150029	ENST00000278302.5:c.1451G>A	11.37:g.5632556G>A	ENSP00000278302:p.Arg484His					HBG2_ENST00000380259.2_Intron|TRIM6-TRIM34_ENST00000354852.5_Intron|TRIM6_ENST00000380107.1_Missense_Mutation_p.R458H|AC015691.13_ENST00000394793.2_RNA|TRIM6_ENST00000278302.5_Missense_Mutation_p.R484H|TRIM6_ENST00000481603.1_3'UTR|TRIM6_ENST00000506134.1_Missense_Mutation_p.R309H|TRIM6_ENST00000515022.1_Missense_Mutation_p.R309H|TRIM6_ENST00000445329.1_Missense_Mutation_p.R309H|TRIM6_ENST00000507320.1_Missense_Mutation_p.R309H	p.R512H	NM_001003818.2|NM_001198644.1|NM_001198645.1	NP_001003818.1|NP_001185573.1|NP_001185574.1				Epithelial(150;1.12e-45)|BRCA - Breast invasive adenocarcinoma(625;0.00101)|LUSC - Lung squamous cell carcinoma(625;0.192)	8	1777	+		Lung NSC(207;2.23e-07)|all_lung(207;1.81e-06)|Medulloblastoma(188;0.00225)|Breast(177;0.0101)|all_neural(188;0.0212)						A8K2A7|B4DDQ5|Q86WZ8|Q9HCR1	Missense_Mutation	SNP	ENST00000278302.5	37	c.1535G>A	CCDS31390.1	.	.	.	.	.	.	.	.	.	.	G	12.95	2.091327	0.36855	.	.	ENSG00000121236	ENST00000278302;ENST00000507320;ENST00000380107;ENST00000380097;ENST00000445329;ENST00000396867;ENST00000515022;ENST00000506134	T;T;T;T;T;T;T	0.63417	-0.0;0.13;0.04;-0.04;0.13;0.13;0.13	4.07	3.16	0.36331	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);B30.2/SPRY domain (1);	.	.	.	.	T	0.75895	0.3912	M	0.73962	2.25	0.24587	N	0.993846	D;B;B	0.76494	0.999;0.218;0.109	D;B;B	0.70716	0.97;0.033;0.032	T	0.64219	-0.6459	9	0.87932	D	0	.	10.1051	0.42528	0.1004:0.0:0.8996:0.0	.	458;512;484	E9PFM0;Q9C030-2;Q9C030	.;.;TRIM6_HUMAN	H	484;309;458;512;309;391;309;309	ENSP00000278302:R484H;ENSP00000427704:R309H;ENSP00000369450:R458H;ENSP00000369440:R512H;ENSP00000399215:R309H;ENSP00000421802:R309H;ENSP00000421079:R309H	ENSP00000278302:R484H	R	+	2	0	TRIM6	5589132	0.884000	0.30299	0.779000	0.31741	0.256000	0.26092	3.054000	0.49908	1.319000	0.45190	0.491000	0.48974	CGT		0.413	TRIM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143376.2	NM_001003818		8	97	0	0	0	1	0	8	97					A	5632556	G	A	5632556	3	1	204	1	0	0	0	0	1	0	0	0	16530	1145	40	1	1565	1	TRIM6	11	5632556	Missense_Mutation	SNP	G	TCGA-HC-7212-01A-11D-2114-08	356944	5632556	129373960	25	9388											
AMHR2	269	broad.mit.edu	37	chr12	53819285	53819285	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgcgaggtgagccagtgccAgagccaaggccagactcagg	10	4	16	11	1	1	3	1	1	0	2	1	4	1	3	4	3	4	0	4	3	1	0			TCGA-HC-7212-01A-11D-2114-08	TCGA-HC-7212-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41815e8f-0332-4826-90c9-ee944f3887a0	4bbff9a5-b19a-4c1c-ae0f-dba68d92e01c	g.chr12:53819285A>G	ENST00000257863.4	+	5	629	c.549A>G	c.(547-549)ccA>ccG	p.P183P	AMHR2_ENST00000379791.3_Silent_p.P183P|AMHR2_ENST00000550311.1_Silent_p.P183P	NM_001164690.1|NM_020547.2	NP_001158162.1|NP_065434.1	Q16671	AMHR2_HUMAN	anti-Mullerian hormone receptor, type II	183					Mullerian duct regression (GO:0001880)|negative regulation of anti-Mullerian hormone signaling pathway (GO:1902613)|sex differentiation (GO:0007548)|signal transduction (GO:0007165)|transforming growth factor beta receptor signaling pathway (GO:0007179)	integral component of plasma membrane (GO:0005887)	anti-Mullerian hormone receptor activity (GO:1990272)|ATP binding (GO:0005524)|hormone binding (GO:0042562)|metal ion binding (GO:0046872)|receptor activity (GO:0004872)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|transforming growth factor beta receptor activity, type II (GO:0005026)			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|skin(2)	34					Adenosine triphosphate(DB00171)	AGCCAGTGCCAGAGCCAAGGC	0.592																																						ENST00000257863.4																			0				breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|skin(2)	34						c.(547-549)ccA>ccG		anti-Mullerian hormone receptor, type II	Adenosine triphosphate(DB00171)						67	68	68					12																	53819285		2203	4300	6503	SO:0001819	synonymous_variant	269				Mullerian duct regression		ATP binding|hormone binding|metal ion binding	g.chr12:53819285A>G	AF172932	CCDS8858.1, CCDS53798.1, CCDS55829.1	12q13	2013-03-14							465	protein-coding gene	gene with protein product	"Muellerian inhibiting substance type II receptor"	600956				7493017	Standard	NM_001164690		Approved	MISR2, MISRII	uc001scx.2	Q16671	OTTHUMG00000170048	ENST00000257863.4:c.549A>G	12.37:g.53819285A>G						AMHR2_ENST00000550311.1_Silent_p.P183P|AMHR2_ENST00000379791.3_Silent_p.P183P	p.P183P	NM_001164690.1|NM_020547.2	NP_001158162.1|NP_065434.1	Q16671	AMHR2_HUMAN			5	629	+			183					A0AVE1|B9EGB7|E9PGD2|F8W1D2|Q13762|Q647K2	Silent	SNP	ENST00000257863.4	37	c.549A>G	CCDS8858.1																																																																																				0.592	AMHR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407048.1	NM_020547		3	80	0	0	0	1	0	3	80					G	53819285	A	G	53819285	2	3	204	1	0	0	0	0	0	0	0	1	573	175	7	4		4	AMHR2	12	53819285	Silent	SNP	A	TCGA-HC-7212-01A-11D-2114-08		53819285	80032610	26	9389											
HTR2A	3356	broad.mit.edu	37	chr13	47469888	47469888	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttcacaggaaaggttggttcGattttcagagtcgactgtcc	9	13	11	8	2	2	1	2	0	0	1	5	4	3	2	1	3	0	2	1	3	1	5			TCGA-HC-7212-01A-11D-2114-08	TCGA-HC-7212-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41815e8f-0332-4826-90c9-ee944f3887a0	4bbff9a5-b19a-4c1c-ae0f-dba68d92e01c	g.chr13:47469888G>A	ENST00000378688.4	-	1	285	c.154C>T	c.(154-156)Cga>Tga	p.R52*	HTR2A_ENST00000542664.1_Nonsense_Mutation_p.R52*|HTR2A_ENST00000543956.1_Intron			P28223	5HT2A_HUMAN	5-hydroxytryptamine (serotonin) receptor 2A, G protein-coupled	52					activation of phospholipase C activity (GO:0007202)|aging (GO:0007568)|artery smooth muscle contraction (GO:0014824)|behavioral response to cocaine (GO:0048148)|cell death (GO:0008219)|cellular calcium ion homeostasis (GO:0006874)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|memory (GO:0007613)|negative regulation of potassium ion transport (GO:0043267)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phospholipase C-activating serotonin receptor signaling pathway (GO:0007208)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of glycolytic process (GO:0045821)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol biosynthetic process (GO:0010513)|positive regulation of vasoconstriction (GO:0045907)|protein localization to cytoskeleton (GO:0044380)|regulation of behavior (GO:0050795)|regulation of dopamine secretion (GO:0014059)|regulation of hormone secretion (GO:0046883)|release of sequestered calcium ion into cytosol (GO:0051209)|response to drug (GO:0042493)|serotonin receptor signaling pathway (GO:0007210)|sleep (GO:0030431)|synaptic transmission (GO:0007268)|temperature homeostasis (GO:0001659)|urinary bladder smooth muscle contraction (GO:0014832)	cell body fiber (GO:0070852)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding (GO:0071886)|drug binding (GO:0008144)|serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|liver(1)|lung(10)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36		all_lung(13;7.2e-10)|Lung NSC(96;3.77e-07)|Breast(56;2.06e-05)|Prostate(109;0.00116)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)|Myeloproliferative disorder(33;0.0333)		GBM - Glioblastoma multiforme(144;4.67e-05)|COAD - Colon adenocarcinoma(199;0.224)	Acepromazine(DB01614)|Amisulpride(DB06288)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinitapride(DB08810)|Cisapride(DB00604)|Clomipramine(DB01242)|Clozapine(DB00363)|Cyclobenzaprine(DB00924)|Cyproheptadine(DB00434)|Desipramine(DB01151)|Donepezil(DB00843)|Doxepin(DB01142)|Epinastine(DB00751)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Flupentixol(DB00875)|Fluspirilene(DB04842)|Haloperidol(DB00502)|Iloperidone(DB04946)|Imipramine(DB00458)|Ketamine(DB01221)|Lisuride(DB00589)|Loxapine(DB00408)|Lurasidone(DB08815)|Maprotiline(DB00934)|Mesoridazine(DB00933)|Methotrimeprazine(DB01403)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Molindone(DB01618)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Paliperidone(DB01267)|Paroxetine(DB00715)|Pergolide(DB01186)|Pipotiazine(DB01621)|Pramipexole(DB00413)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Remoxipride(DB00409)|Risperidone(DB00734)|Ropinirole(DB00268)|Sertindole(DB06144)|Thioproperazine(DB01622)|Thioridazine(DB00679)|Thiothixene(DB01623)|Trazodone(DB00656)|Trimipramine(DB00726)|Yohimbine(DB01392)|Ziprasidone(DB00246)	AGGTTGGTTCGATTTTCAGAG	0.443																																						ENST00000378688.4																			0				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|liver(1)|lung(10)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						c.(154-156)Cga>Tga		5-hydroxytryptamine (serotonin) receptor 2A, G protein-coupled	Aripiprazole(DB01238)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cisapride(DB00604)|Clomipramine(DB01242)|Clozapine(DB00363)|Cyclobenzaprine(DB00924)|Cyproheptadine(DB00434)|Dihydroergotamine(DB00320)|Donepezil(DB00843)|Epinastine(DB00751)|Ergotamine(DB00696)|Fluvoxamine(DB00176)|Mesoridazine(DB00933)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Nefazodone(DB01149)|Olanzapine(DB00334)|Paliperidone(DB01267)|Paroxetine(DB00715)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Sertindole(DB06144)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Tranylcypromine(DB00752)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246)						118	114	116					13																	47469888		2203	4300	6503	SO:0001587	stop_gained	3356				ERK1 and ERK2 cascade|phosphatidylinositol 3-kinase cascade|phosphatidylinositol biosynthetic process|release of sequestered calcium ion into cytosol|response to drug|synaptic transmission	integral to plasma membrane	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding|drug binding|phosphatidylinositol phospholipase C activity|serotonin binding|serotonin receptor activity	g.chr13:47469888G>A	X57830	CCDS9405.1, CCDS53867.1	13q14-q21	2012-08-08	2012-02-03		ENSG00000102468	ENSG00000102468		"5-HT (serotonin) receptors", "GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"	5293	protein-coding gene	gene with protein product		182135	"5-hydroxytryptamine (serotonin) receptor 2A"	HTR2		8035173	Standard	NM_000621		Approved	5-HT2A	uc010acr.4	P28223	OTTHUMG00000016881	ENST00000378688.4:c.154C>T	13.37:g.47469888G>A	ENSP00000367959:p.Arg52*					HTR2A_ENST00000543956.1_Intron|HTR2A_ENST00000542664.1_Nonsense_Mutation_p.R52*	p.R52*			P28223	5HT2A_HUMAN		GBM - Glioblastoma multiforme(144;4.67e-05)|COAD - Colon adenocarcinoma(199;0.224)	1	285	-		all_lung(13;7.2e-10)|Lung NSC(96;3.77e-07)|Breast(56;2.06e-05)|Prostate(109;0.00116)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)|Myeloproliferative disorder(33;0.0333)	52					B2RAC5|B4DZ79|F5GWE8|Q5T8C0	Nonsense_Mutation	SNP	ENST00000378688.4	37	c.154C>T	CCDS9405.1	.	.	.	.	.	.	.	.	.	.	G	37	6.571357	0.97671	.	.	ENSG00000102468	ENST00000378688;ENST00000542664	.	.	.	5.8	1.57	0.23409	.	0.418974	0.20504	N	0.091036	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.15066	T	0.55	.	6.2868	0.21037	0.0663:0.2137:0.5141:0.2059	.	.	.	.	X	52	.	ENSP00000367959:R52X	R	-	1	2	HTR2A	46367889	1.000000	0.71417	0.547000	0.28179	0.998000	0.95712	1.554000	0.36266	0.288000	0.22398	0.655000	0.94253	CGA		0.443	HTR2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044835.3	NM_000621		4	40	0	0	0	1	0	4	40					A	47469888	G	A	47469888	4	1	204	1	0	0	0	0	0	1	0	0	7441	1066	37	2	1273	2	HTR2A	13	47469888	Nonsense_Mutation	SNP	G	TCGA-HC-7212-01A-11D-2114-08		47469888	67699990	27	9390											
SSTR1	6751	broad.mit.edu	37	chr14	38679035	38679035	+	Nonsense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgttcaccagcatctactgTctgactgtgctcagcgtgga	8	12	10	11	1	4	1	2	1	2	0	4	2	4	2	1	1	4	3	1	1	1	2			TCGA-HC-7212-01A-11D-2114-08	TCGA-HC-7212-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41815e8f-0332-4826-90c9-ee944f3887a0	4bbff9a5-b19a-4c1c-ae0f-dba68d92e01c	g.chr14:38679035T>A	ENST00000267377.2	+	3	1058	c.441T>A	c.(439-441)tgT>tgA	p.C147*		NM_001049.2	NP_001040.1	P30872	SSR1_HUMAN	somatostatin receptor 1	147					cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|cellular response to estradiol stimulus (GO:0071392)|cerebellum development (GO:0021549)|digestion (GO:0007586)|forebrain development (GO:0030900)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|glutamate receptor signaling pathway (GO:0007215)|negative regulation of cell proliferation (GO:0008285)|response to nutrient (GO:0007584)|response to starvation (GO:0042594)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	somatostatin receptor activity (GO:0004994)			breast(1)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00444)	Octreotide(DB00104)|Pasireotide(DB06663)	GCATCTACTGTCTGACTGTGC	0.647																																						ENST00000267377.2																			0				breast(1)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29						c.(439-441)tgT>tgA		somatostatin receptor 1	Octreotide(DB00104)						143	132	135					14																	38679035		2203	4299	6502	SO:0001587	stop_gained	0				digestion|G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cell proliferation|response to nutrient	integral to plasma membrane	somatostatin receptor activity	g.chr14:38679035T>A		CCDS9666.1	14q13	2012-08-08			ENSG00000139874	ENSG00000139874		"GPCR / Class A : Somatostatin receptors"	11330	protein-coding gene	gene with protein product		182451				8449518	Standard	NM_001049		Approved		uc001wul.1	P30872	OTTHUMG00000140249	ENST00000267377.2:c.441T>A	14.37:g.38679035T>A	ENSP00000267377:p.Cys147*						p.C147*	NM_001049.2	NP_001040.1	P30872	SSR1_HUMAN	Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00444)	3	1058	+	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		147						Nonsense_Mutation	SNP	ENST00000267377.2	37	c.441T>A	CCDS9666.1	.	.	.	.	.	.	.	.	.	.	T	42	9.451182	0.99175	.	.	ENSG00000139874	ENST00000267377	.	.	.	4.82	2.63	0.31362	.	0.000000	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	5.2935	0.15739	0.0:0.5941:0.0:0.4059	.	.	.	.	X	147	.	ENSP00000267377:C147X	C	+	3	2	SSTR1	37748786	0.999000	0.42202	1.000000	0.80357	0.975000	0.68041	0.696000	0.25541	0.370000	0.24538	0.459000	0.35465	TGT		0.647	SSTR1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409930.2			6	160	0	0	0	1	0	6	160					A	38679035	T	A	38679035	4	1	204	1	0	0	0	0	0	1	0	0	15196	1673	58	5	443	5	SSTR1	14	38679035	Nonsense_Mutation	SNP	T	TCGA-HC-7212-01A-11D-2114-08		38679035	68670505	28	9391											
RYR3	6263	broad.mit.edu	37	chr15	33928661	33928661	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgtatgattaacctggatGatgcttcaatgatcttcaca	12	14	8	7	0	3	3	2	3	1	0	3	5	3	4	1	1	2	2	1	1	3	4			TCGA-HC-7212-01A-11D-2114-08	TCGA-HC-7212-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41815e8f-0332-4826-90c9-ee944f3887a0	4bbff9a5-b19a-4c1c-ae0f-dba68d92e01c	g.chr15:33928661G>T	ENST00000389232.4	+	27	3536	c.3466G>T	c.(3466-3468)Gat>Tat	p.D1156Y	RYR3_ENST00000415757.3_Missense_Mutation_p.D1156Y	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	1156	4 X approximate repeats.|B30.2/SPRY 2. {ECO:0000255|PROSITE- ProRule:PRU00548}.				calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		TAACCTGGATGATGCTTCAAT	0.483																																						ENST00000389232.4																			0				NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311						c.(3466-3468)Gat>Tat		ryanodine receptor 3							197	200	199					15																	33928661		2132	4251	6383	SO:0001583	missense	6263				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr15:33928661G>T		CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"Ion channels / Ryanodine receptors", "EF-hand domain containing"	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.3466G>T	15.37:g.33928661G>T	ENSP00000373884:p.Asp1156Tyr					RYR3_ENST00000415757.3_Missense_Mutation_p.D1156Y	p.D1156Y	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)	27	3536	+		all_lung(180;7.18e-09)	1156			4 X approximate repeats.|B30.2/SPRY 2.		O15175|Q15412	Missense_Mutation	SNP	ENST00000389232.4	37	c.3466G>T	CCDS45210.1	.	.	.	.	.	.	.	.	.	.	G	25.9	4.680571	0.88542	.	.	ENSG00000198838	ENST00000389232;ENST00000415757;ENST00000361728	T;T	0.70045	-0.45;-0.45	5.19	5.19	0.71726	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.000000	0.85682	D	0.000000	D	0.84692	0.5528	M	0.87097	2.86	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.77004	0.961;0.989	D	0.86734	0.1950	10	0.87932	D	0	.	19.2617	0.93970	0.0:0.0:1.0:0.0	.	1156;1156	Q15413-2;Q15413	.;RYR3_HUMAN	Y	1156	ENSP00000373884:D1156Y;ENSP00000399610:D1156Y	ENSP00000354735:D1156Y	D	+	1	0	RYR3	31715953	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.601000	0.98297	2.859000	0.98148	0.591000	0.81541	GAT		0.483	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1			4	145	1	0	1	1	1	4	145					T	33928661	G	T	33928661	3	4	204	1	0	0	0	0	1	0	0	0	13770	1290	45	5	3572	5	RYR3	15	33928661	Missense_Mutation	SNP	G	TCGA-HC-7212-01A-11D-2114-08		33928661	68602731	29	9392											
C15orf38	348110	broad.mit.edu	37	chr15	90447061	90447061	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cgtaccccggcccccagctcGagttccatcacctccatctc	6	8	6	21	3	2	0	1	0	1	0	6	1	4	0	7	1	2	3	7	1	1	2	rs373686419		TCGA-HC-7212-01A-11D-2114-08	TCGA-HC-7212-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41815e8f-0332-4826-90c9-ee944f3887a0	4bbff9a5-b19a-4c1c-ae0f-dba68d92e01c	g.chr15:90447061G>A	ENST00000357484.5	-	4	576	c.456C>T	c.(454-456)ctC>ctT	p.L152L	C15orf38-AP3S2_ENST00000560224.1_5'Flank|C15orf38_ENST00000460685.1_Silent_p.L56L|C15orf38-AP3S2_ENST00000398333.3_Silent_p.L152L	NM_001282380.1|NM_182616.2	NP_001269309.1|NP_872422.1	Q7Z6K5	ARPIN_HUMAN		152					directional locomotion (GO:0033058)|negative regulation of actin nucleation (GO:0051126)|negative regulation of cell migration (GO:0030336)|negative regulation of lamellipodium morphogenesis (GO:2000393)	lamellipodium (GO:0030027)				breast(3)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)	10	Melanoma(11;0.0171)|Lung NSC(78;0.0181)|all_lung(78;0.0384)		BRCA - Breast invasive adenocarcinoma(143;0.0107)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.223)			CCCCCAGCTCGAGTTCCATCA	0.627																																						ENST00000357484.5																			0				breast(3)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)	10						c.(454-456)ctC>ctT		chromosome 15 open reading frame 38		G	,	0,4210		0,0,2105	74	84	81		456,456	-10.7	0.7	15		81	1,8465		0,1,4232	no	coding-synonymous,coding-synonymous	C15orf38,C15orf38-AP3S2	NM_001199058.1,NM_182616.2	,	0,1,6337	AA,AG,GG		0.0118,0.0,0.0079	,	152/395,152/227	90447061	1,12675	2105	4233	6338	SO:0001819	synonymous_variant	348110							g.chr15:90447061G>A																												ENST00000357484.5:c.456C>T	15.37:g.90447061G>A						C15orf38-AP3S2_ENST00000398333.3_Silent_p.L152L|C15orf38_ENST00000460685.1_Silent_p.L56L	p.L152L	NM_182616.2	NP_872422.1			BRCA - Breast invasive adenocarcinoma(143;0.0107)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.223)		4	576	-	Melanoma(11;0.0171)|Lung NSC(78;0.0181)|all_lung(78;0.0384)							E2QRD5	Silent	SNP	ENST00000357484.5	37	c.456C>T	CCDS42080.1																																																																																				0.627	C15orf38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335629.1			40	73	0	0	0	1	0	40	73					A	90447061	G	A	90447061	2	1	204	1	0	0	0	0	0	0	0	1	1792	1045	37	2		2	C15orf38	15	90447061	Silent	SNP	G	TCGA-HC-7212-01A-11D-2114-08	56518400	90447061	12084331	30	9393											
IRX6	79190	broad.mit.edu	37	chr16	55363026	55363026	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gccacgaagtcctgagtgccGtatgattcctggacagcctc	8	9	11	13	2	0	2	0	2	0	0	3	4	2	3	5	1	2	1	5	1	2	2			TCGA-HC-7212-01A-11D-2114-08	TCGA-HC-7212-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41815e8f-0332-4826-90c9-ee944f3887a0	4bbff9a5-b19a-4c1c-ae0f-dba68d92e01c	g.chr16:55363026G>A	ENST00000290552.7	+	5	2468	c.1136G>A	c.(1135-1137)cGt>cAt	p.R379H	RP11-26L20.3_ENST00000558730.2_RNA	NM_024335.2	NP_077311.2	P78412	IRX6_HUMAN	iroquois homeobox 6	379					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			breast(2)|central_nervous_system(5)|endometrium(3)|kidney(2)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	33						CCTGAGTGCCGTATGATTCCT	0.627																																						ENST00000290552.7																			0				breast(2)|central_nervous_system(5)|endometrium(3)|kidney(2)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	33						c.(1135-1137)cGt>cAt		iroquois homeobox 6							66	61	63					16																	55363026		2198	4300	6498	SO:0001583	missense	79190					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr16:55363026G>A	AF319966	CCDS32449.1	16q12.2	2011-06-20	2007-07-13	2003-01-10		ENSG00000159387		"Homeoboxes / TALE class"	14675	protein-coding gene	gene with protein product		606196	"iroquois homeobox protein 7", "iroquois homeobox protein 6"	IRX7			Standard	NM_024335		Approved	IRX-3	uc002ehy.3	P78412		ENST00000290552.7:c.1136G>A	16.37:g.55363026G>A	ENSP00000290552:p.Arg379His					RP11-26L20.3_ENST00000558730.2_RNA	p.R379H	NM_024335.2	NP_077311.2	P78412	IRX6_HUMAN			5	2468	+			379					B2RN06|Q7Z2K0	Missense_Mutation	SNP	ENST00000290552.7	37	c.1136G>A	CCDS32449.1	.	.	.	.	.	.	.	.	.	.	A	0.519	-0.863036	0.02610	.	.	ENSG00000159387	ENST00000290552	D	0.88664	-2.41	5.24	-1.67	0.08238	.	2.789050	0.01178	N	0.007038	T	0.71160	0.3307	N	0.04508	-0.205	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.63594	-0.6602	10	0.11794	T	0.64	-0.8234	0.517	0.00605	0.2618:0.1265:0.247:0.3647	.	379	P78412	IRX6_HUMAN	H	379	ENSP00000290552:R379H	ENSP00000290552:R379H	R	+	2	0	IRX6	53920527	0.198000	0.23374	0.051000	0.19133	0.033000	0.12548	-0.229000	0.09098	-0.281000	0.09141	-0.361000	0.07541	CGT		0.627	IRX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417445.4	NM_024335		4	63	0	0	0	1	0	4	63					A	55363026	G	A	55363026	3	1	204	1	0	0	0	0	1	0	0	0	7848	1145	40	1	1154	1	IRX6	16	55363026	Missense_Mutation	SNP	G	TCGA-HC-7212-01A-11D-2114-08		55363026	34991727	31	9394											
CHD3	1107	broad.mit.edu	37	chr17	7806622	7806622	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gctcatcggattggccaggcCaacaaagtgatgatttaccg	11	9	11	10	2	1	2	1	2	0	0	2	3	1	3	3	3	2	1	3	3	3	3			TCGA-HC-7212-01A-11D-2114-08	TCGA-HC-7212-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41815e8f-0332-4826-90c9-ee944f3887a0	4bbff9a5-b19a-4c1c-ae0f-dba68d92e01c	g.chr17:7806622C>T	ENST00000330494.7	+	23	3678	c.3528C>T	c.(3526-3528)gcC>gcT	p.A1176A	SCARNA21_ENST00000517026.1_RNA|CHD3_ENST00000358181.4_Silent_p.A1176A|CHD3_ENST00000380358.4_Silent_p.A1235A	NM_001005273.2	NP_001005273.1	Q12873	CHD3_HUMAN	chromodomain helicase DNA binding protein 3	1176	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				centrosome organization (GO:0051297)|chromatin assembly or disassembly (GO:0006333)|chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|spindle organization (GO:0007051)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|nucleolus (GO:0005730)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65		Prostate(122;0.202)				TTGGCCAGGCCAACAAAGTGA	0.577																																						ENST00000380358.4																			0				breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65						c.(3703-3705)gcC>gcT		chromodomain helicase DNA binding protein 3							64	65	65					17																	7806622		2203	4300	6503	SO:0001819	synonymous_variant	1107				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|zinc ion binding	g.chr17:7806622C>T	U08379	CCDS32553.2, CCDS32554.1, CCDS32555.1	17p13	2013-01-28			ENSG00000170004	ENSG00000170004		"Zinc fingers, PHD-type"	1918	protein-coding gene	gene with protein product		602120				9326634, 7560064	Standard	NM_001005271		Approved	Mi-2a, ZFH, Mi2-ALPHA	uc002gjd.2	Q12873	OTTHUMG00000150427	ENST00000330494.7:c.3528C>T	17.37:g.7806622C>T						CHD3_ENST00000358181.4_Silent_p.A1176A|CHD3_ENST00000330494.7_Silent_p.A1176A	p.A1235A	NM_001005271.2	NP_001005271.2	Q12873	CHD3_HUMAN			23	3706	+		Prostate(122;0.202)	1176					D3DTQ9|E9PG89|Q9Y4I0	Silent	SNP	ENST00000330494.7	37	c.3705C>T	CCDS32554.1																																																																																				0.577	CHD3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318050.1	NM_001005273		6	62	0	0	0	1	0	6	62					T	7806622	C	T	7806622	2	4	204	1	0	0	0	0	0	0	0	1	3326	581	21	3		3	CHD3	17	7806622	Silent	SNP	C	TCGA-HC-7212-01A-11D-2114-08		7806622	73388588	32	9395											
NCOR1	9611	broad.mit.edu	37	chr17	15971376	15971376	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgctgggatactttccctctGggtaggggtcagtgtcgatt	5	13	14	9	2	2	0	1	0	1	0	4	2	3	1	1	4	1	2	1	4	2	4			TCGA-HC-7212-01A-11D-2114-08	TCGA-HC-7212-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41815e8f-0332-4826-90c9-ee944f3887a0	4bbff9a5-b19a-4c1c-ae0f-dba68d92e01c	g.chr17:15971376G>A	ENST00000268712.3	-	32	4830	c.4573C>T	c.(4573-4575)Cag>Tag	p.Q1525*	NCOR1_ENST00000395851.1_Nonsense_Mutation_p.Q1541*|NCOR1_ENST00000395857.3_Nonsense_Mutation_p.Q109*	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN	nuclear receptor corepressor 1	1525	Interaction with C1D. {ECO:0000250}.|Interaction with ETO.				CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation (GO:0002361)|cellular lipid metabolic process (GO:0044255)|cholesterol homeostasis (GO:0042632)|chromatin modification (GO:0016568)|circadian regulation of gene expression (GO:0032922)|definitive erythrocyte differentiation (GO:0060318)|gene expression (GO:0010467)|negative regulation of JNK cascade (GO:0046329)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of histone deacetylation (GO:0031065)|regulation of fatty acid transport (GO:2000191)|regulation of glycolytic process by negative regulation of transcription from RNA polymerase II promoter (GO:0072362)|regulation of lipid transport by negative regulation of transcription from RNA polymerase II promoter (GO:0072368)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|spindle assembly (GO:0051225)|thalamus development (GO:0021794)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|histone deacetylase binding (GO:0042826)|histone deacetylase regulator activity (GO:0035033)|nuclear hormone receptor binding (GO:0035257)|RNA polymerase II activating transcription factor binding (GO:0001102)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		CTTTCCCTCTGGGTAGGGGTC	0.493																																						ENST00000268712.3																			0				NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107						c.(4573-4575)Cag>Tag		nuclear receptor corepressor 1							70	63	66					17																	15971376		2203	4300	6503	SO:0001587	stop_gained	9611				cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter	nuclear chromatin|spindle microtubule|transcriptional repressor complex	histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding	g.chr17:15971376G>A	AF044209	CCDS11175.1, CCDS54094.1, CCDS54095.1	17p11.2	2014-06-12	2010-06-10		ENSG00000141027	ENSG00000141027			7672	protein-coding gene	gene with protein product	"thyroid hormone- and retinoic acid receptor-associated corepressor 1", "protein phosphatase 1, regulatory subunit 109"	600849	"nuclear receptor co-repressor 1"			7566114, 9724795	Standard	NM_006311		Approved	N-CoR, hCIT529I10, TRAC1, hN-CoR, KIAA1047, MGC104216, PPP1R109	uc002gpo.3	O75376	OTTHUMG00000059309	ENST00000268712.3:c.4573C>T	17.37:g.15971376G>A	ENSP00000268712:p.Gln1525*					NCOR1_ENST00000395851.1_Nonsense_Mutation_p.Q1541*|NCOR1_ENST00000395857.3_Nonsense_Mutation_p.Q109*	p.Q1525*	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.101)	32	4830	-			1525			Interaction with C1D (By similarity).|Interaction with ETO.		B3DLF8|E9PGV6|Q86YY0|Q9UPV5|Q9UQ18	Nonsense_Mutation	SNP	ENST00000268712.3	37	c.4573C>T	CCDS11175.1	.	.	.	.	.	.	.	.	.	.	G	37	6.536786	0.97646	.	.	ENSG00000141027	ENST00000268712;ENST00000395851;ENST00000395849;ENST00000395857	.	.	.	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.49607	T	0.09	-9.3906	18.9612	0.92678	0.0:0.0:1.0:0.0	.	.	.	.	X	1525;1541;1430;109	.	ENSP00000268712:Q1525X	Q	-	1	0	NCOR1	15912101	1.000000	0.71417	1.000000	0.80357	0.735000	0.41995	9.411000	0.97342	2.715000	0.92844	0.563000	0.77884	CAG		0.493	NCOR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131751.5	NM_006311		6	19	0	0	0	1	0	6	19					A	15971376	G	A	15971376	4	1	204	1	0	0	0	0	0	1	0	0	10235	1357	47	3	2809	3	NCOR1	17	15971376	Nonsense_Mutation	SNP	G	TCGA-HC-7212-01A-11D-2114-08	8164754	15971376	65223834	33	9396											
ITGA2B	3674	broad.mit.edu	37	chr17	42458366	42458366	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	acctcagcccctcactctgaCccaggaacaccagcacttgg	10	6	7	18	0	3	1	2	1	1	0	3	2	3	2	5	2	3	1	5	2	1	1			TCGA-HC-7212-01A-11D-2114-08	TCGA-HC-7212-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41815e8f-0332-4826-90c9-ee944f3887a0	4bbff9a5-b19a-4c1c-ae0f-dba68d92e01c	g.chr17:42458366C>A	ENST00000262407.5	-	13	1305	c.1274G>T	c.(1273-1275)gGt>gTt	p.G425V	ITGA2B_ENST00000377068.3_Missense_Mutation_p.G110V|ITGA2B_ENST00000353281.4_Missense_Mutation_p.G425V	NM_000419.3	NP_000410.2	P08514	ITA2B_HUMAN	integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41)	425					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of leukocyte migration (GO:0002687)	blood microparticle (GO:0072562)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)|platelet alpha granule membrane (GO:0031092)	extracellular matrix binding (GO:0050840)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)			biliary_tract(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.191)	Abciximab(DB00054)|Tirofiban(DB00775)	CTCACTCTGACCCAGGAACAC	0.612																																						ENST00000262407.5																			0				biliary_tract(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						c.(1273-1275)gGt>gTt		integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41)	Tirofiban(DB00775)						61	57	58					17																	42458366		2203	4300	6503	SO:0001583	missense	3674				axon guidance|integrin-mediated signaling pathway|platelet activation|platelet degranulation	integrin complex|platelet alpha granule membrane	identical protein binding|receptor activity	g.chr17:42458366C>A		CCDS32665.1	17q21.32	2014-09-17	2006-02-22			ENSG00000005961		"CD molecules", "Integrins"	6138	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 93"	607759	"integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41B)"	GP2B			Standard	NM_000419		Approved	CD41B, CD41, PPP1R93	uc002igt.1	P08514		ENST00000262407.5:c.1274G>T	17.37:g.42458366C>A	ENSP00000262407:p.Gly425Val					ITGA2B_ENST00000353281.4_Missense_Mutation_p.G425V|ITGA2B_ENST00000377068.3_Missense_Mutation_p.G110V	p.G425V	NM_000419.3	NP_000410.2	P08514	ITA2B_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.191)	13	1305	-		Prostate(33;0.0181)	425					B2RCY8|O95366|Q14443|Q17R67	Missense_Mutation	SNP	ENST00000262407.5	37	c.1274G>T	CCDS32665.1	.	.	.	.	.	.	.	.	.	.	C	29.2	4.983890	0.93044	.	.	ENSG00000005961	ENST00000262407;ENST00000353281;ENST00000377068	T;T;T	0.76839	-1.05;-1.05;-1.05	5.49	5.49	0.81192	.	0.000000	0.35870	N	0.002929	D	0.92192	0.7524	H	0.95950	3.745	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.94003	0.7277	10	0.87932	D	0	.	18.3159	0.90221	0.0:1.0:0.0:0.0	.	425	P08514	ITA2B_HUMAN	V	425;425;110	ENSP00000262407:G425V;ENSP00000340536:G425V;ENSP00000366268:G110V	ENSP00000262407:G425V	G	-	2	0	ITGA2B	39813892	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.300000	0.78841	2.865000	0.98341	0.655000	0.94253	GGT		0.612	ITGA2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439823.1			15	32	1	0	1.00905e-13	1	1.05109e-13	15	32					A	42458366	C	A	42458366	3	1	204	1	0	0	0	0	1	0	0	0	7876	507	18	5	1917	5	ITGA2B	17	42458366	Missense_Mutation	SNP	C	TCGA-HC-7212-01A-11D-2114-08	26486990	42458366	38736844	34	9397											
KIAA1267	284058	broad.mit.edu	37	chr17	44145009	44145009	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aatacgggcaccatggttttCcaatggctgagaaacagact	13	9	10	9	1	0	2	0	1	0	2	1	3	1	2	2	3	2	3	2	3	4	3			TCGA-HC-7212-01A-11D-2114-08	TCGA-HC-7212-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41815e8f-0332-4826-90c9-ee944f3887a0	4bbff9a5-b19a-4c1c-ae0f-dba68d92e01c	g.chr17:44145009C>A	ENST00000262419.6	-	5	2028	c.1558G>T	c.(1558-1560)Gaa>Taa	p.E520*	KANSL1_ENST00000393476.3_5'UTR|KANSL1_ENST00000574590.1_Nonsense_Mutation_p.E520*|KANSL1_ENST00000575318.1_Nonsense_Mutation_p.E520*|KANSL1_ENST00000572904.1_Nonsense_Mutation_p.E520*|KANSL1_ENST00000432791.1_Nonsense_Mutation_p.E520*	NM_001193466.1	NP_001180395	Q7Z3B3	KANL1_HUMAN	KAT8 regulatory NSL complex subunit 1	520					chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)	histone acetyltransferase complex (GO:0000123)|MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)											CCATGGTTTTCCAATGGCTGA	0.413																																						ENST00000262419.6																			0											c.(1558-1560)Gaa>Taa		KAT8 regulatory NSL complex subunit 1							87	81	83					17																	44145009		2203	4300	6503	SO:0001587	stop_gained	284058					MLL1 complex	protein binding	g.chr17:44145009C>A	BX538006	CCDS11503.1, CCDS11503.2, CCDS74084.1	17q21.31	2012-02-20	2012-02-20	2012-02-20	ENSG00000120071	ENSG00000120071			24565	protein-coding gene	gene with protein product	"centromere protein 36"	612452	"KIAA1267"	KIAA1267		10574462	Standard	NM_015443		Approved	DKFZP727C091, MSL1v1, CENP-36, NSL1	uc002ikd.3	Q7Z3B3		ENST00000262419.6:c.1558G>T	17.37:g.44145009C>A	ENSP00000262419:p.Glu520*					KANSL1_ENST00000393476.3_5'UTR|KANSL1_ENST00000432791.1_Nonsense_Mutation_p.E520*|KANSL1_ENST00000575318.1_Nonsense_Mutation_p.E520*|KANSL1_ENST00000574590.1_Nonsense_Mutation_p.E520*|KANSL1_ENST00000572904.1_Nonsense_Mutation_p.E520*	p.E520*	NM_001193466.1	NP_001180395.1	Q7Z3B3	K1267_HUMAN			5	2028	-			520					A8K5E4|Q6AW85|Q8IYH1|Q9BRH0|Q9NTE7|Q9UFT0|Q9ULF3	Nonsense_Mutation	SNP	ENST00000262419.6	37	c.1558G>T	CCDS11503.1	.	.	.	.	.	.	.	.	.	.	C	37	6.582141	0.97680	.	.	ENSG00000120071	ENST00000262419;ENST00000432791	.	.	.	5.23	5.23	0.72850	.	0.167445	0.52532	D	0.000064	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.36615	T	0.2	-11.1714	15.5344	0.75990	0.0:1.0:0.0:0.0	.	.	.	.	X	520	.	ENSP00000262419:E520X	E	-	1	0	KIAA1267	41500831	0.998000	0.40836	1.000000	0.80357	0.895000	0.52256	4.964000	0.63701	2.432000	0.82394	0.655000	0.94253	GAA		0.413	KANSL1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440274.1	NM_015443		4	36	1	0	1	1	1	4	36					A	44145009	C	A	44145009	4	1	204	1	0	0	0	0	0	1	0	0	8219	864	30	5	1803	5	KIAA1267	17	44145009	Nonsense_Mutation	SNP	C	TCGA-HC-7212-01A-11D-2114-08	1686643	44145009	37050201	35	9398											
RGS9	8787	broad.mit.edu	37	chr17	63200388	63200388	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgctatgtgctggacgccgCacaaacccacatttacatgc	10	8	8	15	3	0	0	0	0	0	0	0	1	0	1	3	1	4	3	3	1	3	3			TCGA-HC-7212-01A-11D-2114-08	TCGA-HC-7212-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41815e8f-0332-4826-90c9-ee944f3887a0	4bbff9a5-b19a-4c1c-ae0f-dba68d92e01c	g.chr17:63200388C>T	ENST00000262406.9	+	15	1239	c.1172C>T	c.(1171-1173)gCa>gTa	p.A391V	RGS9_ENST00000449996.3_Missense_Mutation_p.A388V|RGS9_ENST00000443584.3_Missense_Mutation_p.A388V	NM_003835.3	NP_003826.2	O75916	RGS9_HUMAN	regulator of G-protein signaling 9	391	RGS. {ECO:0000255|PROSITE- ProRule:PRU00171}.				dopamine receptor signaling pathway (GO:0007212)|intracellular signal transduction (GO:0035556)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|response to estrogen (GO:0043627)|rhodopsin mediated signaling pathway (GO:0016056)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|heterotrimeric G-protein complex (GO:0005834)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|signal transducer activity (GO:0004871)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(8)|liver(2)|lung(12)|ovary(2)|prostate(3)|skin(3)	41						CTGGACGCCGCACAAACCCAC	0.557																																						ENST00000449996.3																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(8)|liver(2)|lung(12)|ovary(2)|prostate(3)|skin(3)	41						c.(1162-1164)gCa>gTa		regulator of G-protein signaling 9							61	65	63					17																	63200388		1947	4150	6097	SO:0001583	missense	8787				intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway|visual perception	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|signal transducer activity	g.chr17:63200388C>T	AF071476	CCDS42373.1, CCDS45764.1	17q24	2008-07-18	2007-08-14			ENSG00000108370		"Regulators of G-protein signaling"	10004	protein-coding gene	gene with protein product	"regulator of G protein signalling 9", "regulator of G protein signalling 9L", "regulator of G-protein signaling 9L"	604067	"regulator of G-protein signalling 9"			9765512	Standard	NM_003835		Approved	PERRS, RGS9L, MGC26458, MGC111763	uc002jfe.3	O75916		ENST00000262406.9:c.1172C>T	17.37:g.63200388C>T	ENSP00000262406:p.Ala391Val					RGS9_ENST00000262406.9_Missense_Mutation_p.A391V|RGS9_ENST00000443584.3_Missense_Mutation_p.A388V	p.A388V	NM_001081955.2	NP_001075424.1	O75916	RGS9_HUMAN			15	1235	+			391			RGS.		A8K3C0|O75573|Q696R2|Q8TD64|Q8TD65|Q9HC32|Q9HC33	Missense_Mutation	SNP	ENST00000262406.9	37	c.1163C>T	CCDS42373.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.65|16.65	3.181455|3.181455	0.57800|0.57800	.|.	.|.	ENSG00000108370|ENSG00000108370	ENST00000262406;ENST00000449996|ENST00000443584	T;T|.	0.02323|.	4.34;4.34|.	5.78|5.78	5.78|5.78	0.91487|0.91487	Regulator of G protein signalling (4);Regulator of G protein signalling superfamily (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.85737|0.85737	0.5766|0.5766	M|M	0.90595|0.90595	3.13|3.13	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	1.0;1.0;1.0|.	D;D;D|.	0.91635|.	0.998;0.999;0.999|.	D|D	0.86888|0.86888	0.2046|0.2046	10|6	0.72032|0.54805	D|T	0.01|0.06	.|.	20.0124|20.0124	0.97464|0.97464	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	391;391;388|.	A8K1G1;O75916;O75916-5|.	.;RGS9_HUMAN;.|.	V|Y	391;388|368	ENSP00000262406:A391V;ENSP00000396329:A388V|.	ENSP00000262406:A391V|ENSP00000405814:H368Y	A|H	+|+	2|1	0|0	RGS9|RGS9	60630850|60630850	1.000000|1.000000	0.71417|0.71417	0.240000|0.240000	0.24138|0.24138	0.732000|0.732000	0.41865|0.41865	7.663000|7.663000	0.83820|0.83820	2.749000|2.749000	0.94314|0.94314	0.655000|0.655000	0.94253|0.94253	GCA|CAC		0.557	RGS9-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000445885.1	NM_003835		4	44	0	0	0	1	0	4	44					T	63200388	C	T	63200388	3	4	204	1	0	0	0	0	1	0	0	0	13313	710	25	3	1230	3	RGS9	17	63200388	Missense_Mutation	SNP	C	TCGA-HC-7212-01A-11D-2114-08	19055379	63200388	17994822	36	9399											
SLC16A6	9120	broad.mit.edu	37	chr17	66267073	66267073	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ctcaatgcccacgacatcatCctcagcaagcagtggaatgt	12	8	8	13	1	3	0	3	0	0	0	4	2	4	1	2	1	3	2	2	1	3	0			TCGA-HC-7212-01A-11D-2114-08	TCGA-HC-7212-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41815e8f-0332-4826-90c9-ee944f3887a0	4bbff9a5-b19a-4c1c-ae0f-dba68d92e01c	g.chr17:66267073C>T	ENST00000327268.4	-	6	1392	c.1228G>A	c.(1228-1230)Gat>Aat	p.D410N	ARSG_ENST00000448504.2_Intron|SLC16A6_ENST00000580666.1_Missense_Mutation_p.D410N	NM_001174166.1	NP_001167637.1	O15403	MOT7_HUMAN	solute carrier family 16, member 6	410					monocarboxylic acid transport (GO:0015718)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	monocarboxylic acid transmembrane transporter activity (GO:0008028)|symporter activity (GO:0015293)			large_intestine(3)|lung(8)|prostate(1)|skin(1)|urinary_tract(2)	15	all_cancers(12;1.24e-09)		BRCA - Breast invasive adenocarcinoma(8;3.17e-08)|LUSC - Lung squamous cell carcinoma(166;0.24)		Pyruvic acid(DB00119)	ACGACATCATCCTCAGCAAGC	0.468																																						ENST00000327268.4																			0				large_intestine(3)|lung(8)|prostate(1)|skin(1)|urinary_tract(2)	15						c.(1228-1230)Gat>Aat		solute carrier family 16, member 6	Pyruvic acid(DB00119)						114	99	105					17																	66267073		2203	4300	6503	SO:0001583	missense	9120					integral to plasma membrane|membrane fraction	monocarboxylic acid transmembrane transporter activity|symporter activity	g.chr17:66267073C>T	U79745	CCDS11675.1	17q24.2	2013-07-18	2013-07-18		ENSG00000108932	ENSG00000108932		"Solute carriers"	10927	protein-coding gene	gene with protein product		603880	"solute carrier family 16 (monocarboxylic acid transporters), member 6", "solute carrier family 16, member 6 (monocarboxylic acid transporter 7)"			9425115	Standard	NM_004694		Approved	MCT6, MCT7	uc002jgz.2	O15403	OTTHUMG00000179812	ENST00000327268.4:c.1228G>A	17.37:g.66267073C>T	ENSP00000319991:p.Asp410Asn					ARSG_ENST00000448504.2_Intron|SLC16A6_ENST00000580666.1_Missense_Mutation_p.D410N	p.D410N	NM_001174166.1	NP_001167637.1	O15403	MOT7_HUMAN	BRCA - Breast invasive adenocarcinoma(8;3.17e-08)|LUSC - Lung squamous cell carcinoma(166;0.24)		6	1392	-	all_cancers(12;1.24e-09)		410					Q6P1X3	Missense_Mutation	SNP	ENST00000327268.4	37	c.1228G>A	CCDS11675.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.327974	0.81690	.	.	ENSG00000108932	ENST00000327268	T	0.59224	0.28	4.52	4.52	0.55395	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.052383	0.64402	D	0.000001	T	0.73776	0.3630	M	0.79123	2.44	0.80722	D	1	D	0.63046	0.992	P	0.62382	0.901	T	0.76066	-0.3095	10	0.45353	T	0.12	.	16.4022	0.83644	0.0:1.0:0.0:0.0	.	410	O15403	MOT7_HUMAN	N	410	ENSP00000319991:D410N	ENSP00000319991:D410N	D	-	1	0	SLC16A6	63778668	1.000000	0.71417	0.039000	0.18376	0.515000	0.34225	5.694000	0.68272	2.340000	0.79590	0.484000	0.47621	GAT		0.468	SLC16A6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448323.1	NM_004694		8	97	0	0	0	1	0	8	97					T	66267073	C	T	66267073	3	4	204	1	0	0	0	0	1	0	0	0	14412	855	30	3	351	3	SLC16A6	17	66267073	Missense_Mutation	SNP	C	TCGA-HC-7212-01A-11D-2114-08	3066685	66267073	14928137	37	9400											
OTOP2	92736	broad.mit.edu	37	chr17	72926528	72926528	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtcatgtggaagaatgtgggTagattcctggcctccacccc	8	10	12	11	0	1	2	1	0	0	2	3	3	3	3	5	3	0	1	5	3	3	2			TCGA-HC-7212-01A-11D-2114-08	TCGA-HC-7212-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41815e8f-0332-4826-90c9-ee944f3887a0	4bbff9a5-b19a-4c1c-ae0f-dba68d92e01c	g.chr17:72926528T>C	ENST00000580223.1	+	5	828	c.798T>C	c.(796-798)ggT>ggC	p.G266G	OTOP2_ENST00000331427.4_Silent_p.G266G			Q7RTS6	OTOP2_HUMAN	otopetrin 2	266						integral component of membrane (GO:0016021)				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|ovary(3)|prostate(4)|skin(1)|urinary_tract(2)	39	all_lung(278;0.172)|Lung NSC(278;0.207)					AGAATGTGGGTAGATTCCTGG	0.572																																						ENST00000331427.4																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|ovary(3)|prostate(4)|skin(1)|urinary_tract(2)	39						c.(796-798)ggT>ggC		otopetrin 2							173	156	162					17																	72926528		2203	4300	6503	SO:0001819	synonymous_variant	92736					integral to membrane		g.chr17:72926528T>C	BK000567	CCDS11708.1	17q25.3	2006-09-20				ENSG00000183034			19657	protein-coding gene	gene with protein product		607827				12651873	Standard	NM_178160		Approved		uc010wrp.2	Q7RTS6		ENST00000580223.1:c.798T>C	17.37:g.72926528T>C						OTOP2_ENST00000580223.1_Silent_p.G266G	p.G266G	NM_178160.2	NP_835454.1	Q7RTS6	OTOP2_HUMAN			6	890	+	all_lung(278;0.172)|Lung NSC(278;0.207)		266						Silent	SNP	ENST00000580223.1	37	c.798T>C	CCDS11708.1																																																																																				0.572	OTOP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445306.1	NM_178160		76	169	0	0	0	1	0	76	169					C	72926528	T	C	72926528	2	2	204	1	0	0	0	0	0	0	0	1	11306	1625	57	4		4	OTOP2	17	72926528	Silent	SNP	T	TCGA-HC-7212-01A-11D-2114-08	6659455	72926528	8268682	38	9401											
RDH8	50700	broad.mit.edu	37	chr19	10131942	10131942	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtcgccagcatctccctggTggagccaggccccgtggtca	5	7	14	15	2	2	0	1	0	1	0	4	1	2	1	5	5	2	1	5	5	0	0			TCGA-HC-7212-01A-11D-2114-08	TCGA-HC-7212-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41815e8f-0332-4826-90c9-ee944f3887a0	4bbff9a5-b19a-4c1c-ae0f-dba68d92e01c	g.chr19:10131942T>C	ENST00000171214.1	+	5	797	c.548T>C	c.(547-549)gTg>gCg	p.V183A	RDH8_ENST00000591589.1_Missense_Mutation_p.V203A	NM_015725.2	NP_056540.2	Q9NYR8	RDH8_HUMAN	retinol dehydrogenase 8 (all-trans)	183					estrogen biosynthetic process (GO:0006703)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|steroid biosynthetic process (GO:0006694)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)	estradiol 17-beta-dehydrogenase activity (GO:0004303)|NADP-retinol dehydrogenase activity (GO:0052650)|retinol dehydrogenase activity (GO:0004745)			endometrium(3)|large_intestine(3)|lung(10)|ovary(3)|pancreas(1)|prostate(1)	21			Epithelial(33;4.24e-05)		Vitamin A(DB00162)	ATCTCCCTGGTGGAGCCAGGC	0.532																																						ENST00000591589.1																			0				endometrium(3)|large_intestine(3)|lung(10)|ovary(3)|pancreas(1)|prostate(1)	21						c.(607-609)gTg>gCg		retinol dehydrogenase 8 (all-trans)	Vitamin A(DB00162)						59	56	57					19																	10131942		2203	4300	6503	SO:0001583	missense	50700				estrogen biosynthetic process|response to stimulus|visual perception	cytoplasm|integral to plasma membrane	binding|estradiol 17-beta-dehydrogenase activity|NADP-retinol dehydrogenase activity|retinol dehydrogenase activity	g.chr19:10131942T>C	AF229845	CCDS12223.1, CCDS12223.2	19p13.2	2011-09-14				ENSG00000080511	1.1.1.-	"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"	14423	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 28C, member 2"	608575				10753906, 19027726	Standard	NM_015725		Approved	PRRDH, SDR28C2	uc002mmr.4	Q9NYR8		ENST00000171214.1:c.548T>C	19.37:g.10131942T>C	ENSP00000171214:p.Val183Ala					RDH8_ENST00000171214.1_Missense_Mutation_p.V183A	p.V203A			Q9NYR8	RDH8_HUMAN	Epithelial(33;4.24e-05)		5	797	+			183					Q9H838	Missense_Mutation	SNP	ENST00000171214.1	37	c.608T>C		.	.	.	.	.	.	.	.	.	.	T	26.2	4.713584	0.89112	.	.	ENSG00000080511	ENST00000171214	D	0.94793	-3.52	5.17	5.17	0.71159	NAD(P)-binding domain (1);	0.055778	0.64402	D	0.000004	D	0.95608	0.8572	M	0.76574	2.34	0.40453	D	0.980169	P	0.51449	0.945	P	0.53401	0.725	D	0.96240	0.9175	10	0.87932	D	0	.	12.9463	0.58373	0.0:0.0:0.0:1.0	.	183	Q9NYR8	RDH8_HUMAN	A	183	ENSP00000171214:V183A	ENSP00000171214:V183A	V	+	2	0	RDH8	9992942	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	7.566000	0.82347	1.961000	0.56991	0.379000	0.24179	GTG		0.532	RDH8-201	KNOWN	basic|appris_principal	protein_coding	protein_coding				4	50	0	0	0	1	0	4	50					C	10131942	T	C	10131942	3	2	204	1	0	0	0	0	1	0	0	0	13196	1696	59	4	566	4	RDH8	19	10131942	Missense_Mutation	SNP	T	TCGA-HC-7212-01A-11D-2114-08		10131942	48997041	39	9402											
PRKACA	5566	broad.mit.edu	37	chr19	14208444	14208444	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggggtgccgcacaaggtccAagtgcggcccttcacgcgct	7	6	14	14	4	1	0	1	0	0	0	2	0	2	0	3	4	2	2	3	4	2	1			TCGA-HC-7212-01A-11D-2114-08	TCGA-HC-7212-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41815e8f-0332-4826-90c9-ee944f3887a0	4bbff9a5-b19a-4c1c-ae0f-dba68d92e01c	g.chr19:14208444A>C	ENST00000308677.4	-	7	785	c.589T>G	c.(589-591)Tgg>Ggg	p.W197G	PRKACA_ENST00000590853.1_Intron|PRKACA_ENST00000350356.3_5'UTR|PRKACA_ENST00000589994.1_Missense_Mutation_p.W189G	NM_002730.3	NP_002721.1	P17612	KAPCA_HUMAN	protein kinase, cAMP-dependent, catalytic, alpha	197	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|blood coagulation (GO:0007596)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|carbohydrate metabolic process (GO:0005975)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular response to epinephrine stimulus (GO:0071872)|cellular response to glucagon stimulus (GO:0071377)|cellular response to glucose stimulus (GO:0071333)|cellular response to parathyroid hormone stimulus (GO:0071374)|cytosolic calcium ion homeostasis (GO:0051480)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G2/M transition of mitotic cell cycle (GO:0000086)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|mesoderm formation (GO:0001707)|mitotic cell cycle (GO:0000278)|negative regulation of smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:1901621)|neural tube closure (GO:0001843)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of protein export from nucleus (GO:0046827)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of insulin secretion (GO:0050796)|regulation of osteoblast differentiation (GO:0045667)|regulation of proteasomal protein catabolic process (GO:0061136)|regulation of protein binding (GO:0043393)|regulation of protein processing (GO:0070613)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of synaptic transmission (GO:0050804)|regulation of tight junction assembly (GO:2000810)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|sperm capacitation (GO:0048240)|transmembrane transport (GO:0055085)|triglyceride catabolic process (GO:0019433)|water transport (GO:0006833)	AMP-activated protein kinase complex (GO:0031588)|calcium channel complex (GO:0034704)|cAMP-dependent protein kinase complex (GO:0005952)|centrosome (GO:0005813)|ciliary base (GO:0097546)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|motile cilium (GO:0031514)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sperm midpiece (GO:0097225)	ATP binding (GO:0005524)|cAMP-dependent protein kinase activity (GO:0004691)|protein kinase A regulatory subunit binding (GO:0034237)|protein kinase binding (GO:0019901)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)	16						CACAAGGTCCAAGTGCGGCCC	0.642																																						ENST00000308677.4																			0				central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)	16						c.(589-591)Tgg>Ggg		protein kinase, cAMP-dependent, catalytic, alpha							49	52	51					19																	14208444		2203	4300	6503	SO:0001583	missense	5566				activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|G2/M transition of mitotic cell cycle|gluconeogenesis|intracellular protein kinase cascade|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|regulation of insulin secretion|transmembrane transport|triglyceride catabolic process|water transport	cAMP-dependent protein kinase complex|centrosome|cytosol|nucleoplasm|plasma membrane	ATP binding|cAMP-dependent protein kinase activity|cAMP-dependent protein kinase inhibitor activity|protein kinase binding	g.chr19:14208444A>C		CCDS12304.1, CCDS12305.1	19p13.1	2012-10-02				ENSG00000072062	2.7.11.1		9380	protein-coding gene	gene with protein product		601639				8884279	Standard	NM_002730		Approved	PKACa	uc002myc.3	P17612		ENST00000308677.4:c.589T>G	19.37:g.14208444A>C	ENSP00000309591:p.Trp197Gly					PRKACA_ENST00000350356.3_5'UTR|PRKACA_ENST00000590853.1_Intron|PRKACA_ENST00000589994.1_Missense_Mutation_p.W189G	p.W197G	NM_002730.3	NP_002721.1	P17612	KAPCA_HUMAN			7	785	-			197			Protein kinase.		Q32P54|Q9H2Y0|Q9NRB4|Q9NRH9	Missense_Mutation	SNP	ENST00000308677.4	37	c.589T>G	CCDS12304.1	.	.	.	.	.	.	.	.	.	.	A	18.71	3.682812	0.68157	.	.	ENSG00000072062	ENST00000308677;ENST00000350356;ENST00000535695;ENST00000536649	T	0.64260	-0.09	4.68	4.68	0.58851	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.40640	N	0.001051	T	0.60958	0.2309	N	0.10972	0.075	0.50039	D	0.99984	P;P;P;D	0.58268	0.908;0.95;0.505;0.982	P;P;P;D	0.68621	0.705;0.849;0.824;0.959	T	0.68318	-0.5440	10	0.87932	D	0	.	12.0852	0.53693	1.0:0.0:0.0:0.0	.	139;180;197;189	B7Z708;Q15136;P17612;P17612-2	.;.;KAPCA_HUMAN;.	G	197;189;197;139	ENSP00000309591:W197G	ENSP00000309591:W197G	W	-	1	0	PRKACA	14069444	1.000000	0.71417	1.000000	0.80357	0.778000	0.44026	9.067000	0.93955	1.741000	0.51731	0.482000	0.46254	TGG		0.642	PRKACA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459004.1	NM_002730		7	39	0	0	0	1	0	7	39					C	14208444	A	C	14208444	3	2	204	1	0	0	0	0	1	0	0	0	12497	130	5	5	482	5	PRKACA	19	14208444	Missense_Mutation	SNP	A	TCGA-HC-7212-01A-11D-2114-08	4076502	14208444	44920539	40	9403											
ANKLE1	126549	broad.mit.edu	37	chr19	17397230	17397230	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agaagcaagggcactgctatGgagtggtggcaggctggcca	10	6	17	8	0	0	1	0	0	0	1	0	2	0	2	1	6	2	5	1	6	3	1			TCGA-HC-7212-01A-11D-2114-08	TCGA-HC-7212-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41815e8f-0332-4826-90c9-ee944f3887a0	4bbff9a5-b19a-4c1c-ae0f-dba68d92e01c	g.chr19:17397230G>A	ENST00000394458.3	+	9	1993	c.1717G>A	c.(1717-1719)Gga>Aga	p.G573R	ANKLE1_ENST00000404085.1_Missense_Mutation_p.G569R|ANKLE1_ENST00000433424.2_3'UTR|ANKLE1_ENST00000598347.1_Missense_Mutation_p.M500I|ANKLE1_ENST00000594072.1_Missense_Mutation_p.G536R	NM_152363.4	NP_689576	Q8NAG6	ANKL1_HUMAN	ankyrin repeat and LEM domain containing 1	573										large_intestine(1)|lung(3)|prostate(1)|skin(1)|urinary_tract(1)	7						GCACTGCTATGGAGTGGTGGC	0.642																																						ENST00000394458.3																			0				large_intestine(1)|lung(3)|prostate(1)|skin(1)|urinary_tract(1)	7						c.(1717-1719)Gga>Aga		ankyrin repeat and LEM domain containing 1							40	36	38					19																	17397230		2203	4297	6500	SO:0001583	missense	126549					nuclear envelope		g.chr19:17397230G>A	AK096688	CCDS12354.2, CCDS12354.3	19p13.11	2013-01-10	2008-03-25	2008-03-25	ENSG00000160117	ENSG00000160117		"Ankyrin repeat domain containing"	26812	protein-coding gene	gene with protein product	"LEM domain containing 6"		"ankyrin repeat domain 41"	ANKRD41			Standard	NM_152363		Approved	FLJ39369, LEMD6	uc002nga.2	Q8NAG6	OTTHUMG00000150839	ENST00000394458.3:c.1717G>A	19.37:g.17397230G>A	ENSP00000377971:p.Gly573Arg					ANKLE1_ENST00000433424.2_3'UTR|ANKLE1_ENST00000404085.1_Missense_Mutation_p.G569R|ANKLE1_ENST00000594072.1_Missense_Mutation_p.G536R|ANKLE1_ENST00000598347.1_Missense_Mutation_p.M500I	p.G573R	NM_152363.4	NP_689576.4	Q8NAG6	ANKL1_HUMAN			9	1993	+			573					A8VU82|Q8N8J8	Missense_Mutation	SNP	ENST00000394458.3	37	c.1717G>A	CCDS12354.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	25.0|25.0	4.595718|4.595718	0.86953|0.86953	.|.	.|.	ENSG00000160117|ENSG00000160117	ENST00000404261;ENST00000404085;ENST00000394458|ENST00000438921	D|.	0.89270|.	-2.49|.	5.42|5.42	4.35|4.35	0.52113|0.52113	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.72843|0.72843	0.3511|0.3511	M|M	0.90870|0.90870	3.155|3.155	0.80722|0.80722	D|D	1|1	D;D;D|B	0.89917|0.09022	1.0;1.0;0.996|0.002	D;D;D|B	0.97110|0.06405	1.0;0.999;0.941|0.002	T|T	0.72603|0.72603	-0.4243|-0.4243	10|8	0.87932|0.46703	D|T	0|0.11	.|.	13.7771|13.7771	0.63059|0.63059	0.0:0.1554:0.8446:0.0|0.0:0.1554:0.8446:0.0	.|.	533;573;536|500	Q8NAG6-1;Q8NAG6;A0JLW0|E7ETZ9	.;ANKL1_HUMAN;.|.	R|I	573;569;536|500	ENSP00000384008:G569R|.	ENSP00000377971:G536R|ENSP00000415429:M500I	G|M	+|+	1|3	0|0	ANKLE1|ANKLE1	17258230|17258230	1.000000|1.000000	0.71417|0.71417	0.495000|0.495000	0.27527|0.27527	0.983000|0.983000	0.72400|0.72400	7.066000|7.066000	0.76734|0.76734	1.234000|1.234000	0.43709|0.43709	0.491000|0.491000	0.48974|0.48974	GGA|ATG		0.642	ANKLE1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000325392.2	NM_152363		3	52	0	0	0	1	0	3	52					A	17397230	G	A	17397230	3	1	204	1	0	0	0	0	1	0	0	0	632	1349	47	3	1751	3	ANKLE1	19	17397230	Missense_Mutation	SNP	G	TCGA-HC-7212-01A-11D-2114-08	3188786	17397230	41731753	41	9404											
SYCP2	10388	broad.mit.edu	37	chr20	58470533	58470533	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atgtcttccttctgatgatcTagatttcagtgatgcagcat	9	16	8	8	0	4	4	1	3	3	1	5	4	5	4	1	0	2	2	1	0	1	4			TCGA-HC-7212-01A-11D-2114-08	TCGA-HC-7212-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41815e8f-0332-4826-90c9-ee944f3887a0	4bbff9a5-b19a-4c1c-ae0f-dba68d92e01c	g.chr20:58470533T>C	ENST00000357552.3	-	20	1849	c.1624A>G	c.(1624-1626)Aga>Gga	p.R542G	SYCP2_ENST00000371001.2_Missense_Mutation_p.R542G			Q9BX26	SYCP2_HUMAN	synaptonemal complex protein 2	542					female meiotic division (GO:0007143)|fertilization (GO:0009566)|male genitalia morphogenesis (GO:0048808)|male meiosis (GO:0007140)|negative regulation of apoptotic process (GO:0043066)|synaptonemal complex assembly (GO:0007130)	lateral element (GO:0000800)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	DNA binding (GO:0003677)			NS(4)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;1.19e-09)			TCTGATGATCTAGATTTCAGT	0.318																																						ENST00000357552.3																			0				NS(4)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53						c.(1624-1626)Aga>Gga		synaptonemal complex protein 2							180	172	175					20																	58470533		2203	4300	6503	SO:0001583	missense	10388				cell division|meiotic prophase I|synaptonemal complex assembly		DNA binding	g.chr20:58470533T>C	Y08982	CCDS13482.1	20q13.33	2007-07-02			ENSG00000196074	ENSG00000196074			11490	protein-coding gene	gene with protein product		604105				10341103, 9592139	Standard	NM_014258		Approved	SCP2	uc002yaz.3	Q9BX26	OTTHUMG00000032872	ENST00000357552.3:c.1624A>G	20.37:g.58470533T>C	ENSP00000350162:p.Arg542Gly					SYCP2_ENST00000371001.2_Missense_Mutation_p.R542G	p.R542G			Q9BX26	SYCP2_HUMAN	BRCA - Breast invasive adenocarcinoma(7;1.19e-09)		20	1849	-	all_lung(29;0.00344)		542					A2RUE5|O75763|Q5JX11|Q9NTX8|Q9UG27	Missense_Mutation	SNP	ENST00000357552.3	37	c.1624A>G	CCDS13482.1	.	.	.	.	.	.	.	.	.	.	T	10.74	1.435906	0.25813	.	.	ENSG00000196074	ENST00000371001;ENST00000357552;ENST00000446834	T;T;T	0.20069	2.35;2.35;2.1	4.71	2.44	0.29823	.	0.748783	0.12550	N	0.459106	T	0.20170	0.0485	L	0.60455	1.87	0.09310	N	1	B	0.13594	0.008	B	0.16289	0.015	T	0.21965	-1.0230	10	0.66056	D	0.02	-6.5147	5.9147	0.19048	0.0:0.2071:0.0:0.7929	.	542	Q9BX26	SYCP2_HUMAN	G	542	ENSP00000360040:R542G;ENSP00000350162:R542G;ENSP00000402456:R542G	ENSP00000350162:R542G	R	-	1	2	SYCP2	57903928	0.139000	0.22563	0.341000	0.25589	0.291000	0.27294	0.167000	0.16602	0.900000	0.36469	0.477000	0.44152	AGA		0.318	SYCP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079930.3	NM_014258		16	46	0	0	0	1	0	16	46					C	58470533	T	C	58470533	3	2	204	1	0	0	0	0	1	0	0	0	15429	1530	53	4	3072	4	SYCP2	20	58470533	Missense_Mutation	SNP	T	TCGA-HC-7212-01A-11D-2114-08		58470533	4554987	42	9405											
ASCC2	84164	broad.mit.edu	37	chr22	30185114	30185114	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcgttcctgggttgtctcgCggctctgcccatggcctcgg	1	12	14	14	4	2	0	0	0	2	0	5	0	3	0	3	4	2	3	3	4	0	2	rs139016848		TCGA-HC-7212-01A-11D-2114-08	TCGA-HC-7212-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41815e8f-0332-4826-90c9-ee944f3887a0	4bbff9a5-b19a-4c1c-ae0f-dba68d92e01c	g.chr22:30185114C>T	ENST00000397771.2	-	21	2339	c.2162G>A	c.(2161-2163)cGc>cAc	p.R721H	ASCC2_ENST00000307790.3_Missense_Mutation_p.R721H|ASCC2_ENST00000542393.1_Missense_Mutation_p.R645H			Q9H1I8	ASCC2_HUMAN	activating signal cointegrator 1 complex subunit 2	721					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)					endometrium(3)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(5;0.000103)|Epithelial(10;0.0169)|all cancers(5;0.0259)			GGTTGTCTCGCGGCTCTGCCC	0.627													C|||	1	0.000199681	8e-04	0	5008	,	,		18503	0		0	False		,,,				2504	0					ENST00000397771.2																			0				endometrium(3)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	18						c.(2161-2163)cGc>cAc		activating signal cointegrator 1 complex subunit 2							300	257	271					22																	30185114		2203	4300	6503	SO:0001583	missense	84164				regulation of transcription, DNA-dependent|transcription, DNA-dependent			g.chr22:30185114C>T	AY013289	CCDS13869.1, CCDS56226.1	22q12.1	2004-07-27			ENSG00000100325	ENSG00000100325			24103	protein-coding gene	gene with protein product	"ASC 1 complex subunit P100"	614216				12077347, 9847074	Standard	NM_032204		Approved	ASC1p100, FLJ21588, DKFZp586O0223	uc003agr.3	Q9H1I8	OTTHUMG00000067658	ENST00000397771.2:c.2162G>A	22.37:g.30185114C>T	ENSP00000380877:p.Arg721His					ASCC2_ENST00000307790.3_Missense_Mutation_p.R721H|ASCC2_ENST00000542393.1_Missense_Mutation_p.R645H	p.R721H			Q9H1I8	ASCC2_HUMAN	OV - Ovarian serous cystadenocarcinoma(5;0.000103)|Epithelial(10;0.0169)|all cancers(5;0.0259)		21	2339	-			721					B7Z8E0|F5H6J9|Q4TT54|Q8TAZ0|Q9H711|Q9H9D6	Missense_Mutation	SNP	ENST00000397771.2	37	c.2162G>A	CCDS13869.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	15.98	2.993686	0.54041	.	.	ENSG00000100325	ENST00000307790;ENST00000397771;ENST00000542393	T;T;T	0.08546	3.08;3.08;3.09	5.89	4.82	0.62117	.	0.369685	0.31734	N	0.007153	T	0.17408	0.0418	L	0.49350	1.555	0.22552	N	0.998994	D;D	0.57571	0.98;0.965	P;P	0.54401	0.751;0.466	T	0.01834	-1.1264	10	0.46703	T	0.11	-14.1202	15.6452	0.77042	0.0:0.8628:0.1371:0.0	.	645;721	F5H6J9;Q9H1I8	.;ASCC2_HUMAN	H	721;721;645	ENSP00000305502:R721H;ENSP00000380877:R721H;ENSP00000437570:R645H	ENSP00000305502:R721H	R	-	2	0	ASCC2	28515114	0.962000	0.33011	0.653000	0.29593	0.439000	0.31926	2.022000	0.41030	2.793000	0.96121	0.561000	0.74099	CGC		0.627	ASCC2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322127.1	NM_032204		12	328	0	0	0	1	0	12	328					T	30185114	C	T	30185114	3	4	204	1	0	0	0	0	1	0	0	0	1032	768	27	1	115	1	ASCC2	22	30185114	Missense_Mutation	SNP	C	TCGA-HC-7212-01A-11D-2114-08		30185114	21119452	43	9406											
KDM6A	7403	broad.mit.edu	37	chrX	44966780	44966783	+	Splice_Site	DEL	AAGT	AAGT	-																															tcattactgtagcatttgtgAagtaagtaattgtttttatc																										TCGA-HC-7212-01A-11D-2114-08	TCGA-HC-7212-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41815e8f-0332-4826-90c9-ee944f3887a0	4bbff9a5-b19a-4c1c-ae0f-dba68d92e01c	g.chrX:44966780_44966783delAAGT	ENST00000377967.4	+	27	4045_4046	c.4004_4005delAAGT	c.(4003-4005)gaa>g	p.E1335fs	KDM6A_ENST00000536777.1_Splice_Site_p.E1290fs|KDM6A_ENST00000543216.1_Splice_Site_p.E1256fs|KDM6A_ENST00000382899.4_Splice_Site_p.E1342fs|KDM6A_ENST00000479423.1_3'UTR	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN	lysine (K)-specific demethylase 6A	1335					canonical Wnt signaling pathway (GO:0060070)|heart morphogenesis (GO:0003007)|histone H3-K4 methylation (GO:0051568)|in utero embryonic development (GO:0001701)|mesodermal cell differentiation (GO:0048333)|multicellular organism growth (GO:0035264)|neural tube closure (GO:0001843)|notochord morphogenesis (GO:0048570)|regulation of gene expression (GO:0010468)|respiratory system process (GO:0003016)|somite rostral/caudal axis specification (GO:0032525)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|histone demethylase activity (H3-K27 specific) (GO:0071558)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)	p.0?(6)		NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						AGCATTTGTGAAGTAAGTAATTGT	0.348			"D, N, F, S"		"renal, oesophageal SCC, MM"																																Colon(129;1273 1667 15230 27352 52914)	ENST00000377967.4				Rec	yes		X	Xp11.2	7403	"D, N, F, S"	"lysine (K)-specific demethylase 6A, UTX"			"E, L"			"renal, oesophageal SCC, MM"		6	Whole gene deletion(6)	p.0?(6)	oesophagus(2)|breast(2)|pancreas(2)	NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						c.e27+1		lysine (K)-specific demethylase 6A																																				SO:0001630	splice_region_variant	7403				histone H3-K4 methylation		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chrX:44966780_44966783delAAGT	AF000992	CCDS14265.1	Xp11.2	2014-09-17	2009-04-17	2009-04-17	ENSG00000147050	ENSG00000147050		"Chromatin-modifying enzymes / K-demethylases", "Tetratricopeptide (TTC) repeat domain containing"	12637	protein-coding gene	gene with protein product		300128	"ubiquitously transcribed tetratricopeptide repeat, X chromosome"	UTX		9499428, 9381176	Standard	XM_005272655		Approved		uc004dge.4	O15550	OTTHUMG00000021402	ENST00000377967.4:c.4005+1AAGT>-	X.37:g.44966784_44966787delAAGT						KDM6A_ENST00000479423.1_3'UTR|KDM6A_ENST00000536777.1_Splice_Site_p.1290_splice|KDM6A_ENST00000382899.4_Splice_Site_p.1342_splice|KDM6A_ENST00000543216.1_Splice_Site_p.1256_splice	p.1335_splice	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN			27	4045_4046	+			1335					Q52LL9|Q5JVQ7	Splice_Site	DEL	ENST00000377967.4	37	c.4005_splice	CCDS14265.1																																																																																				0.348	KDM6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056324.1	NM_021140	Frame_Shift_Del	12	42						12	42	---	---	---	---	-	44966783	AAGT	-	44966780	8	5	204	1	0	1	0	1	0	0	1	0	8137	260	9	0	4110	0	KDM6A	23	44966780	Splice_Site	DEL	AAGT	TCGA-HC-7212-01A-11D-2114-08		44966780	110303780	44	9407											
RBM41	55285	broad.mit.edu	37	chrX	106312568	106312568	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtccttttttctcctggaacCgagcgaacaatgacacaaga	12	10	8	11	2	1	2	0	1	1	1	3	5	2	3	3	1	3	0	3	1	4	3			TCGA-HC-7212-01A-11D-2114-08	TCGA-HC-7212-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41815e8f-0332-4826-90c9-ee944f3887a0	4bbff9a5-b19a-4c1c-ae0f-dba68d92e01c	g.chrX:106312568C>T	ENST00000372479.3	-	6	1022	c.992G>A	c.(991-993)cGg>cAg	p.R331Q	RBM41_ENST00000372487.1_Missense_Mutation_p.R331Q	NM_018301.3	NP_060771.3	Q96IZ5	RBM41_HUMAN	RNA binding motif protein 41	331	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.						nucleotide binding (GO:0000166)|RNA binding (GO:0003723)	p.R331Q(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	13						CTCCTGGAACCGAGCGAACAA	0.418																																						ENST00000372487.1																			1	Substitution - Missense(1)	p.R331Q(1)	large_intestine(1)	breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	13						c.(991-993)cGg>cAg		RNA binding motif protein 41							150	141	144					X																	106312568		2203	4300	6503	SO:0001583	missense	55285						nucleotide binding|RNA binding	g.chrX:106312568C>T	BC006986	CCDS14526.1, CCDS55472.1	Xq22.3	2013-02-12			ENSG00000089682	ENSG00000089682		"RNA binding motif (RRM) containing"	25617	protein-coding gene	gene with protein product						12477932	Standard	NM_001171080		Approved	FLJ11016	uc004emz.3	Q96IZ5	OTTHUMG00000022156	ENST00000372479.3:c.992G>A	X.37:g.106312568C>T	ENSP00000361557:p.Arg331Gln					RBM41_ENST00000372479.3_Missense_Mutation_p.R331Q	p.R331Q	NM_001171080.1	NP_001164551.1	Q96IZ5	RBM41_HUMAN			6	1018	-			331			RRM.		Q5JSN7|Q5JSN8|Q9H8F7|Q9NV04	Missense_Mutation	SNP	ENST00000372479.3	37	c.992G>A	CCDS14526.1	.	.	.	.	.	.	.	.	.	.	C	26.2	4.714939	0.89112	.	.	ENSG00000089682	ENST00000372487;ENST00000372479	T;T	0.14516	2.5;2.5	5.83	4.97	0.65823	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	T	0.23532	0.0569	L	0.31804	0.96	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.01541	-1.1329	10	0.54805	T	0.06	.	9.7283	0.40346	0.0:0.9031:0.0:0.0969	.	331	Q96IZ5	RBM41_HUMAN	Q	331	ENSP00000361565:R331Q;ENSP00000361557:R331Q	ENSP00000361557:R331Q	R	-	2	0	RBM41	106199224	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	5.844000	0.69430	1.202000	0.43218	0.600000	0.82982	CGG		0.418	RBM41-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057819.1	NM_018301		48	13	0	0	0	1	0	48	13					T	106312568	C	T	106312568	3	4	204	1	0	0	0	0	1	0	0	0	13135	652	23	2	266	2	RBM41	23	106312568	Missense_Mutation	SNP	C	TCGA-HC-7212-01A-11D-2114-08	61345788	106312568	48957992	45	9408											
CD99L2	83692	broad.mit.edu	37	chrX	149937526	149937528	+	In_Frame_Del	DEL	GGC	GGC	-																															ctcagatccgggctggttcgGgcggcggcggcggctctgca																								rs7877654	byFrequency	TCGA-HC-7212-01A-11D-2114-08	TCGA-HC-7212-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41815e8f-0332-4826-90c9-ee944f3887a0	4bbff9a5-b19a-4c1c-ae0f-dba68d92e01c	g.chrX:149937526_149937528delGGC	ENST00000370377.3	-	11	885_887	c.768_770delGCC	c.(766-771)ccgccc>ccc	p.256_257PP>P	CD99L2_ENST00000466436.1_In_Frame_Del_p.207_208PP>P|CD99L2_ENST00000346693.4_5'UTR|CD99L2_ENST00000355149.3_In_Frame_Del_p.184_185PP>P|CD99L2_ENST00000437787.2_In_Frame_Del_p.183_184PP>P	NM_001242614.1|NM_031462.3	NP_001229543.1|NP_113650.2	Q8TCZ2	C99L2_HUMAN	CD99 molecule-like 2	256	Poly-Pro.				cell adhesion (GO:0007155)	focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(4)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					GGCTGGTTCGGGCGGCGGCGGCG	0.611																																						ENST00000370377.3																			0				endometrium(4)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	23						c.(766-771)ccc>cc		CD99 molecule-like 2																																				SO:0001651	inframe_deletion	83692				cell adhesion	cell junction|integral to membrane		g.chrX:149937526_149937528delGGC	BC030536	CCDS14697.1, CCDS14698.1, CCDS35427.1, CCDS55527.1, CCDS76044.1	Xq28	2007-12-04	2006-03-28	2003-02-14	ENSG00000102181	ENSG00000102181			18237	protein-coding gene	gene with protein product		300846	"MIC2 like 1", "CD99 antigen-like 2"	MIC2L1			Standard	NM_001184808		Approved	CD99B	uc004fek.3	Q8TCZ2	OTTHUMG00000024247	ENST00000370377.3:c.768_770delGCC	X.37:g.149937535_149937537delGGC	ENSP00000359403:p.Pro257del					CD99L2_ENST00000437787.2_In_Frame_Del_p.PP183del|CD99L2_ENST00000355149.3_In_Frame_Del_p.PP184del|CD99L2_ENST00000466436.1_In_Frame_Del_p.PP207del|CD99L2_ENST00000346693.4_5'UTR	p.PP256del	NM_001242614.1|NM_031462.3	NP_001229543.1|NP_113650.2	Q8TCZ2	C99L2_HUMAN			11	885_887	-	Acute lymphoblastic leukemia(192;6.56e-05)		256			Poly-Pro.		A8K2D5|A8K5R0|B3KWG2|B4DDL7|E7EMK5|E9PD27|Q8TAW2|Q8TCZ0|Q8TCZ1|Q9BQG9	In_Frame_Del	DEL	ENST00000370377.3	37	c.768_770delGCC	CCDS35427.1																																																																																				0.611	CD99L2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000061199.1	NM_031462		7	110						7	110	---	---	---	---	-	149937528	GGC	-	149937526	7	5	204	1	0	1	0	1	0	0	0	0	3051	1232	43	0	22	0	CD99L2	23	149937526	In_Frame_Del	DEL	GGC	TCGA-HC-7212-01A-11D-2114-08	43624958	149937526	5333034	46	9409											
ECE1	1889	broad.mit.edu	37	chr1	21564710	21564710	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttgttttctgtgtcactcaCgcaaaacttccagcgaggaa	10	12	9	10	2	3	0	2	0	1	0	4	2	4	1	1	1	2	3	1	1	3	4			TCGA-HC-7213-01A-11D-2114-08	TCGA-HC-7213-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	423b7b92-135d-40ff-9db4-37afd44f6094	89d60af8-dd60-4b74-88f5-779f6e026865	g.chr1:21564710C>A	ENST00000374893.6	-	11	1380	c.1306G>T	c.(1306-1308)Gtg>Ttg	p.V436L	ECE1_ENST00000264205.6_Missense_Mutation_p.V433L|ECE1_ENST00000415912.2_Missense_Mutation_p.V420L|ECE1_ENST00000436918.2_Missense_Mutation_p.V436L|ECE1_ENST00000357071.4_Missense_Mutation_p.V424L|ECE1_ENST00000528294.1_5'UTR	NM_001397.2	NP_001388.1	P42892	ECE1_HUMAN	endothelin converting enzyme 1	436					bradykinin catabolic process (GO:0010815)|calcitonin catabolic process (GO:0010816)|ear development (GO:0043583)|embryonic digit morphogenesis (GO:0042733)|endothelin maturation (GO:0034959)|heart development (GO:0007507)|hormone catabolic process (GO:0042447)|peptide hormone processing (GO:0016486)|pharyngeal system development (GO:0060037)|positive regulation of receptor recycling (GO:0001921)|protein processing (GO:0016485)|regulation of systemic arterial blood pressure by endothelin (GO:0003100)|regulation of vasoconstriction (GO:0019229)|substance P catabolic process (GO:0010814)	early endosome (GO:0005769)|endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intrinsic component of endosome membrane (GO:0031302)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|vesicle (GO:0031982)|Weibel-Palade body (GO:0033093)	endopeptidase activity (GO:0004175)|metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)|peptide hormone binding (GO:0017046)|protein homodimerization activity (GO:0042803)			endometrium(5)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)	25		Lung NSC(340;1.14e-05)|all_lung(284;1.23e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00147)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0183)|OV - Ovarian serous cystadenocarcinoma(117;4.83e-27)|COAD - Colon adenocarcinoma(152;1.36e-06)|GBM - Glioblastoma multiforme(114;1.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000162)|STAD - Stomach adenocarcinoma(196;0.00326)|KIRC - Kidney renal clear cell carcinoma(1967;0.00755)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.206)		GTGTCACTCACGCAAAACTTC	0.552																																						ENST00000415912.2																			0				endometrium(5)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)	25						c.(1258-1260)Gtg>Ttg		endothelin converting enzyme 1							78	69	72					1																	21564710		2203	4300	6503	SO:0001583	missense	1889				bradykinin catabolic process|calcitonin catabolic process|ear development|embryonic digit morphogenesis|endothelin maturation|heart development|positive regulation of receptor recycling|substance P catabolic process	early endosome|external side of plasma membrane|integral to membrane|intrinsic to endosome membrane|membrane fraction|perinuclear region of cytoplasm|plasma membrane|Weibel-Palade body	metal ion binding|metalloendopeptidase activity|protein homodimerization activity	g.chr1:21564710C>A	D49471	CCDS215.1, CCDS44081.1, CCDS44082.1, CCDS44083.1	1p36.1	2008-02-05			ENSG00000117298	ENSG00000117298			3146	protein-coding gene	gene with protein product		600423		ECE		7805846, 7864876, 17592116	Standard	NM_001397		Approved		uc001bei.2	P42892	OTTHUMG00000002625	ENST00000374893.6:c.1306G>T	1.37:g.21564710C>A	ENSP00000364028:p.Val436Leu					ECE1_ENST00000528294.1_5'UTR|ECE1_ENST00000374893.6_Missense_Mutation_p.V436L|ECE1_ENST00000436918.2_Missense_Mutation_p.V436L|ECE1_ENST00000357071.4_Missense_Mutation_p.V424L|ECE1_ENST00000264205.6_Missense_Mutation_p.V433L	p.V420L	NM_001113348.1	NP_001106819.1	P42892	ECE1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0183)|OV - Ovarian serous cystadenocarcinoma(117;4.83e-27)|COAD - Colon adenocarcinoma(152;1.36e-06)|GBM - Glioblastoma multiforme(114;1.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000162)|STAD - Stomach adenocarcinoma(196;0.00326)|KIRC - Kidney renal clear cell carcinoma(1967;0.00755)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.206)	11	1383	-		Lung NSC(340;1.14e-05)|all_lung(284;1.23e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00147)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)	436					A8K3P1|B4E291|Q14217|Q17RN5|Q2Z2K8|Q58GE7|Q5THM5|Q5THM7|Q5THM8|Q9UJQ6|Q9UPF4|Q9UPM4|Q9Y501	Missense_Mutation	SNP	ENST00000374893.6	37	c.1258G>T	CCDS215.1	.	.	.	.	.	.	.	.	.	.	C	15.89	2.965092	0.53507	.	.	ENSG00000117298	ENST00000415912;ENST00000357071;ENST00000374893;ENST00000436918;ENST00000264205	T;T;T;T;T	0.75477	-0.94;-0.94;-0.94;-0.94;-0.94	5.55	4.64	0.57946	Peptidase M13 (1);Metallopeptidase, catalytic domain (1);	0.115296	0.64402	D	0.000017	T	0.68997	0.3062	L	0.58583	1.82	0.53688	D	0.999977	B;B;B;B;B	0.13145	0.007;0.0;0.0;0.001;0.001	B;B;B;B;B	0.25140	0.058;0.002;0.002;0.004;0.001	T	0.66380	-0.5938	10	0.48119	T	0.1	-27.1831	7.913	0.29802	0.0:0.7601:0.0:0.2399	.	436;420;436;424;433	B4DKB2;Q2Z2K8;P42892;P42892-2;P42892-4	.;.;ECE1_HUMAN;.;.	L	420;424;436;436;433	ENSP00000405088:V420L;ENSP00000349581:V424L;ENSP00000364028:V436L;ENSP00000388439:V436L;ENSP00000264205:V433L	ENSP00000264205:V433L	V	-	1	0	ECE1	21437297	0.925000	0.31364	0.936000	0.37596	0.994000	0.84299	1.854000	0.39368	1.485000	0.48380	0.655000	0.94253	GTG		0.552	ECE1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000007470.2	NM_001397		3	33	1	0	0.150653	1	0.155289	3	33					A	21564710	C	A	21564710	3	1	205	1	0	0	0	0	1	0	0	0	4889	536	19	5	1042	5	ECE1	1	21564710	Missense_Mutation	SNP	C	TCGA-HC-7213-01A-11D-2114-08		21564710	227685911	1	9410											
MACF1	23499	broad.mit.edu	37	chr1	39783026	39783026	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttggagcgctatcaggaaaaAggctcccagctgcaggagcg	11	6	14	10	2	1	0	1	0	0	0	2	3	2	3	1	4	4	4	1	4	3	2			TCGA-HC-7213-01A-11D-2114-08	TCGA-HC-7213-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	423b7b92-135d-40ff-9db4-37afd44f6094	89d60af8-dd60-4b74-88f5-779f6e026865	g.chr1:39783026A>G	ENST00000372915.3	+	28	3831	c.3744A>G	c.(3742-3744)aaA>aaG	p.K1248K	MACF1_ENST00000361689.2_Silent_p.K1248K|MACF1_ENST00000476350.1_3'UTR|MACF1_ENST00000564288.1_Silent_p.K1243K|MACF1_ENST00000539005.1_Silent_p.K1248K|MACF1_ENST00000317713.7_Silent_p.K1248K|MACF1_ENST00000567887.1_Silent_p.K1280K|MACF1_ENST00000545844.1_Silent_p.K1248K			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	1248					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			ATCAGGAAAAAGGCTCCCAGC	0.542																																						ENST00000564288.1																			0				breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203						c.(3727-3729)aaA>aaG		microtubule-actin crosslinking factor 1							84	80	81					1																	39783026		2203	4300	6503	SO:0001819	synonymous_variant	23499				cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding	g.chr1:39783026A>G	AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"EF-hand domain containing"	13664	protein-coding gene	gene with protein product	"actin cross-linking factor", "620 kDa actin binding protein", "macrophin 1", "trabeculin-alpha", "actin cross-linking family protein 7"	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.3744A>G	1.37:g.39783026A>G						MACF1_ENST00000476350.1_3'UTR|MACF1_ENST00000539005.1_Silent_p.K1248K|MACF1_ENST00000317713.7_Silent_p.K1248K|MACF1_ENST00000567887.1_Silent_p.K1280K|MACF1_ENST00000545844.1_Silent_p.K1248K|MACF1_ENST00000361689.2_Silent_p.K1248K|MACF1_ENST00000372915.3_Silent_p.K1248K	p.K1243K			Q9UPN3	MACF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)		29	4506	+	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	1248					B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Silent	SNP	ENST00000372915.3	37	c.3729A>G		.	.	.	.	.	.	.	.	.	.	A	10.93	1.490827	0.26774	.	.	ENSG00000127603	ENST00000372925	.	.	.	5.74	2.11	0.27256	.	.	.	.	.	T	0.55242	0.1908	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.46624	-0.9178	4	.	.	.	.	7.326	0.26555	0.5627:0.0:0.4373:0.0	.	.	.	.	G	382	.	.	R	+	1	2	MACF1	39555613	0.998000	0.40836	0.994000	0.49952	0.977000	0.68977	0.531000	0.23052	0.458000	0.26988	0.451000	0.29950	AGG		0.542	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1	NM_033044		3	36	0	0	0	1	0	3	36					G	39783026	A	G	39783026	2	3	205	1	0	0	0	0	0	0	0	1	9144	69	3	4		4	MACF1	1	39783026	Silent	SNP	A	TCGA-HC-7213-01A-11D-2114-08	18218316	39783026	209467595	2	9411											
ASB17	127247	broad.mit.edu	37	chr1	76397716	76397716	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	acacatatttcagtgaagtcGaggttaaaacttacttcaaa	16	12	6	7	1	2	1	2	1	0	0	3	2	2	1	0	1	2	1	0	1	6	5	rs11811988	byFrequency	TCGA-HC-7213-01A-11D-2114-08	TCGA-HC-7213-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	423b7b92-135d-40ff-9db4-37afd44f6094	89d60af8-dd60-4b74-88f5-779f6e026865	g.chr1:76397716G>A	ENST00000284142.6	-	1	400	c.261C>T	c.(259-261)ctC>ctT	p.L87L		NM_080868.2	NP_543144.1	Q8WXJ9	ASB17_HUMAN	ankyrin repeat and SOCS box containing 17	87					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)					breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(11)|ovary(2)|urinary_tract(1)	21						CAGTGAAGTCGAGGTTAAAAC	0.378																																						ENST00000284142.6																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(11)|ovary(2)|urinary_tract(1)	21						c.(259-261)ctC>ctT		ankyrin repeat and SOCS box containing 17							108	102	104					1																	76397716		2203	4300	6503	SO:0001819	synonymous_variant	127247				intracellular signal transduction			g.chr1:76397716G>A	AF403035	CCDS671.1	1p22.3	2013-01-11	2011-01-25		ENSG00000154007	ENSG00000154007		"Ankyrin repeat domain containing"	19769	protein-coding gene	gene with protein product			"ankyrin repeat and SOCS box-containing 17"			12076535	Standard	NM_080868		Approved		uc001dhe.2	Q8WXJ9	OTTHUMG00000009787	ENST00000284142.6:c.261C>T	1.37:g.76397716G>A							p.L87L	NM_080868.2	NP_543144.1	Q8WXJ9	ASB17_HUMAN			1	400	-			87					B1APB8|Q8N0X5	Silent	SNP	ENST00000284142.6	37	c.261C>T	CCDS671.1																																																																																				0.378	ASB17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026982.1	NM_080868		17	28	0	0	0	1	0	17	28					A	76397716	G	A	76397716	2	1	205	1	0	0	0	0	0	0	0	1	1021	1045	37	2		2	ASB17	1	76397716	Silent	SNP	G	TCGA-HC-7213-01A-11D-2114-08	36614690	76397716	172852905	3	9412											
HFM1	164045	broad.mit.edu	37	chr1	91859724	91859724	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tttgtatcatcaggaacactCttctcaggtgctatctcagt	9	15	7	10	0	5	0	4	0	3	0	7	1	5	1	0	2	2	2	0	2	3	4			TCGA-HC-7213-01A-11D-2114-08	TCGA-HC-7213-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	423b7b92-135d-40ff-9db4-37afd44f6094	89d60af8-dd60-4b74-88f5-779f6e026865	g.chr1:91859724C>G	ENST00000370425.3	-	4	518	c.420G>C	c.(418-420)aaG>aaC	p.K140N	HFM1_ENST00000294696.5_5'UTR|HFM1_ENST00000370424.3_Intron	NM_001017975.3	NP_001017975.3	A2PYH4	HFM1_HUMAN	HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae)	140					resolution of meiotic recombination intermediates (GO:0000712)		ATP binding (GO:0005524)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)			breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	75		all_lung(203;0.00961)|Lung NSC(277;0.0351)		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)		CAGGAACACTCTTCTCAGGTG	0.333																																						ENST00000370425.3																			0				breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	75						c.(418-420)aaG>aaC		HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae)							88	87	88					1																	91859724		2202	4300	6502	SO:0001583	missense	164045						ATP binding|ATP-dependent helicase activity|nucleic acid binding	g.chr1:91859724C>G	AB204867	CCDS30769.2	1p22.2	2008-03-26			ENSG00000162669	ENSG00000162669			20193	protein-coding gene	gene with protein product		615684	"SEC63 domain containing 1"	SEC63D1		14702039, 17286053	Standard	XM_006710395		Approved	MER3, FLJ39011, FLJ36760	uc001doa.4	A2PYH4	OTTHUMG00000010093	ENST00000370425.3:c.420G>C	1.37:g.91859724C>G	ENSP00000359454:p.Lys140Asn					HFM1_ENST00000370424.3_Intron|HFM1_ENST00000294696.5_5'UTR	p.K140N	NM_001017975.3	NP_001017975.3	A2PYH4	HFM1_HUMAN		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)	4	518	-		all_lung(203;0.00961)|Lung NSC(277;0.0351)	140					B1B0B6|Q8N9Q0	Missense_Mutation	SNP	ENST00000370425.3	37	c.420G>C	CCDS30769.2	.	.	.	.	.	.	.	.	.	.	C	7.773	0.707811	0.15239	.	.	ENSG00000162669	ENST00000370425;ENST00000541820;ENST00000427444	T;T	0.60424	0.19;1.24	4.13	-4.34	0.03666	.	.	.	.	.	T	0.14830	0.0358	L	0.29908	0.895	0.20307	N	0.999917	B;B	0.33694	0.421;0.148	B;B	0.26969	0.075;0.051	T	0.08452	-1.0721	9	0.54805	T	0.06	.	1.7927	0.03055	0.1541:0.3983:0.1569:0.2907	.	140;140	B7ZM16;A2PYH4	.;HFM1_HUMAN	N	140;173;98	ENSP00000359454:K140N;ENSP00000388900:K98N	ENSP00000359454:K140N	K	-	3	2	HFM1	91632312	0.001000	0.12720	0.003000	0.11579	0.389000	0.30415	-0.371000	0.07513	-0.920000	0.03799	-0.469000	0.05056	AAG		0.333	HFM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316716.2	NM_001017975		21	66	0	0	0	1	0	21	66					G	91859724	C	G	91859724	3	3	205	1	0	0	0	0	1	0	0	0	7083	912	32	5	4031	5	HFM1	1	91859724	Missense_Mutation	SNP	C	TCGA-HC-7213-01A-11D-2114-08	15462008	91859724	157390897	4	9413											
VIT	5212	broad.mit.edu	37	chr2	37035976	37035976	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caagagggtgggctactggaGtggtggcaccagcacggggg	8	5	20	8	1	0	1	0	0	0	1	0	2	0	2	1	7	2	3	1	7	2	1			TCGA-HC-7213-01A-11D-2114-08	TCGA-HC-7213-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	423b7b92-135d-40ff-9db4-37afd44f6094	89d60af8-dd60-4b74-88f5-779f6e026865	g.chr2:37035976G>A	ENST00000389975.3	+	14	2008	c.1706G>A	c.(1705-1707)aGt>aAt	p.S569N	VIT_ENST00000401530.1_Missense_Mutation_p.S548N|VIT_ENST00000379242.3_Missense_Mutation_p.S584N|VIT_ENST00000404084.1_Missense_Mutation_p.S521N|VIT_ENST00000379241.3_Missense_Mutation_p.S547N|VIT_ENST00000497382.1_Missense_Mutation_p.S238N	NM_001177969.1|NM_001177970.1	NP_001171440.1|NP_001171441.1	Q6UXI7	VITRN_HUMAN	vitrin	569	VWFA 2. {ECO:0000255|PROSITE- ProRule:PRU00219}.				extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	interstitial matrix (GO:0005614)	glycosaminoglycan binding (GO:0005539)			autonomic_ganglia(1)|breast(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_hematologic(82;0.248)				GGCTACTGGAGTGGTGGCACC	0.567																																						ENST00000379242.3																			0				autonomic_ganglia(1)|breast(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57						c.(1750-1752)aGt>aAt		vitrin							82	77	79					2																	37035976		2203	4300	6503	SO:0001583	missense	5212					proteinaceous extracellular matrix		g.chr2:37035976G>A	AF063833	CCDS33180.1, CCDS54347.1, CCDS54348.1, CCDS54349.1, CCDS54350.1	2p22.2	2008-05-15			ENSG00000205221	ENSG00000205221			12697	protein-coding gene	gene with protein product							Standard	NM_001177969		Approved		uc002rpl.3	Q6UXI7	OTTHUMG00000152149	ENST00000389975.3:c.1706G>A	2.37:g.37035976G>A	ENSP00000374625:p.Ser569Asn					VIT_ENST00000401530.1_Missense_Mutation_p.S548N|VIT_ENST00000379241.3_Missense_Mutation_p.S547N|VIT_ENST00000389975.3_Missense_Mutation_p.S569N|VIT_ENST00000497382.1_Missense_Mutation_p.S238N|VIT_ENST00000404084.1_Missense_Mutation_p.S521N	p.S584N	NM_053276.3	NP_444506.2	Q6UXI7	VITRN_HUMAN			15	2053	+		all_hematologic(82;0.248)	569			VWFA 2.		A1A526|A6NKI9|A8K7Y4|E9PF47|Q6P7T3|Q96DM8|Q96DT1|Q9UDN0	Missense_Mutation	SNP	ENST00000389975.3	37	c.1751G>A	CCDS54347.1	.	.	.	.	.	.	.	.	.	.	G	18.66	3.672644	0.67928	.	.	ENSG00000205221	ENST00000379242;ENST00000389975;ENST00000497382;ENST00000404084;ENST00000379241;ENST00000401530	T;T;T;T;T;T	0.78364	-1.17;-1.17;-1.17;-1.17;-1.17;-1.17	5.27	4.39	0.52855	von Willebrand factor, type A (3);	0.000000	0.85682	D	0.000000	T	0.81312	0.4796	L	0.38733	1.17	0.58432	D	0.999995	D;P;D;D	0.76494	0.996;0.95;0.996;0.999	D;P;D;D	0.68353	0.957;0.828;0.957;0.928	T	0.80276	-0.1450	10	0.38643	T	0.18	-18.5675	13.8446	0.63459	0.0736:0.0:0.9264:0.0	.	548;547;569;584	E9PF47;Q6UXI7-2;Q6UXI7;Q6UXI7-4	.;.;VITRN_HUMAN;.	N	584;569;238;521;547;548	ENSP00000368544:S584N;ENSP00000374625:S569N;ENSP00000417874:S238N;ENSP00000384154:S521N;ENSP00000368543:S547N;ENSP00000385658:S548N	ENSP00000368543:S547N	S	+	2	0	VIT	36889480	1.000000	0.71417	0.923000	0.36655	0.757000	0.42996	8.022000	0.88759	1.225000	0.43566	0.557000	0.71058	AGT		0.567	VIT-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding				3	64	0	0	0	1	0	3	64					A	37035976	G	A	37035976	3	1	205	1	0	0	0	0	1	0	0	0	17168	1029	36	3	1930	3	VIT	2	37035976	Missense_Mutation	SNP	G	TCGA-HC-7213-01A-11D-2114-08		37035976	206163397	5	9414											
OTX1	5013	broad.mit.edu	37	chr2	63282957	63282957	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggctcagcgcccgcgtccGtgtcggtgccggagccattg	4	7	15	15	6	1	0	1	0	0	0	3	1	2	1	4	3	3	1	4	3	0	1			TCGA-HC-7213-01A-11D-2114-08	TCGA-HC-7213-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	423b7b92-135d-40ff-9db4-37afd44f6094	89d60af8-dd60-4b74-88f5-779f6e026865	g.chr2:63282957G>A	ENST00000282549.2	+	5	847	c.571G>A	c.(571-573)Gtg>Atg	p.V191M	OTX1_ENST00000366671.3_Missense_Mutation_p.V191M	NM_014562.3	NP_055377.1	P32242	OTX1_HUMAN	orthodenticle homeobox 1	191					anterior/posterior pattern specification (GO:0009952)|diencephalon morphogenesis (GO:0048852)|inner ear morphogenesis (GO:0042472)|metencephalon development (GO:0022037)|midbrain development (GO:0030901)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|pancreas(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	20	Lung NSC(7;0.121)|all_lung(7;0.211)					GCCCGCGTCCGTGTCGGTGCC	0.682																																						ENST00000282549.2																			0				endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|pancreas(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	20						c.(571-573)Gtg>Atg		orthodenticle homeobox 1							13	15	14					2																	63282957		2190	4286	6476	SO:0001583	missense	5013					nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:63282957G>A		CCDS1873.1	2p15	2011-06-20	2007-02-15		ENSG00000115507	ENSG00000115507		"Homeoboxes / PRD class"	8521	protein-coding gene	gene with protein product		600036	"orthodenticle (Drosophila) homolog 1", "orthodenticle homolog 1 (Drosophila)"			7959790	Standard	NM_001199770		Approved		uc002scd.3	P32242	OTTHUMG00000129454	ENST00000282549.2:c.571G>A	2.37:g.63282957G>A	ENSP00000282549:p.Val191Met					OTX1_ENST00000366671.3_Missense_Mutation_p.V191M	p.V191M	NM_014562.3	NP_055377.1	P32242	OTX1_HUMAN			5	847	+	Lung NSC(7;0.121)|all_lung(7;0.211)		191					A6NHA2|B3KTJ4|Q53TG6	Missense_Mutation	SNP	ENST00000282549.2	37	c.571G>A	CCDS1873.1	.	.	.	.	.	.	.	.	.	.	G	13.94	2.386865	0.42308	.	.	ENSG00000115507	ENST00000366671;ENST00000282549	D;D	0.90261	-2.64;-2.64	3.41	3.41	0.39046	Transcription factor Otx, C-terminal (1);	0.724429	0.12380	N	0.474030	D	0.84037	0.5384	L	0.44542	1.39	0.29651	N	0.843923	D	0.59357	0.985	B	0.40038	0.317	T	0.78518	-0.2173	10	0.33141	T	0.24	.	6.7278	0.23367	0.1313:0.0:0.8687:0.0	.	191	P32242	OTX1_HUMAN	M	191	ENSP00000355631:V191M;ENSP00000282549:V191M	ENSP00000282549:V191M	V	+	1	0	OTX1	63136461	1.000000	0.71417	0.717000	0.30585	0.743000	0.42351	4.249000	0.58766	1.901000	0.55032	0.462000	0.41574	GTG		0.682	OTX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251617.1			3	16	0	0	0	1	0	3	16					A	63282957	G	A	63282957	3	1	205	1	0	0	0	0	1	0	0	0	11320	1145	40	1	581	1	OTX1	2	63282957	Missense_Mutation	SNP	G	TCGA-HC-7213-01A-11D-2114-08	26246981	63282957	179916416	6	9415											
DOK1	1796	broad.mit.edu	37	chr2	74783766	74783766	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccccttggacagcacgtctgCtcaggcaggagagggagtac	9	6	14	12	1	2	1	1	0	1	1	2	4	2	3	2	4	3	4	2	4	1	2			TCGA-HC-7213-01A-11D-2114-08	TCGA-HC-7213-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	423b7b92-135d-40ff-9db4-37afd44f6094	89d60af8-dd60-4b74-88f5-779f6e026865	g.chr2:74783766C>G	ENST00000233668.5	+	5	1640	c.971C>G	c.(970-972)gCt>gGt	p.A324G	DOK1_ENST00000340004.6_3'UTR|M1AP_ENST00000464686.1_5'Flank|LOXL3_ENST00000264094.3_5'Flank|LOXL3_ENST00000409986.1_5'Flank|DOK1_ENST00000409429.1_Missense_Mutation_p.A185G|LOXL3_ENST00000393937.2_5'Flank|DOK1_ENST00000480318.1_3'UTR	NM_001381.3	NP_001372.1	Q99704	DOK1_HUMAN	docking protein 1, 62kDa (downstream of tyrosine kinase 1)	324					cell surface receptor signaling pathway (GO:0007166)|insulin receptor signaling pathway (GO:0008286)|Ras protein signal transduction (GO:0007265)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	receptor signaling protein activity (GO:0005057)			endometrium(3)|large_intestine(2)|liver(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16						AGCACGTCTGCTCAGGCAGGA	0.567																																					Esophageal Squamous(36;520 860 12502 33616 51270)	ENST00000233668.5																			0				endometrium(3)|large_intestine(2)|liver(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16						c.(970-972)gCt>gGt		docking protein 1, 62kDa (downstream of tyrosine kinase 1)							80	84	83					2																	74783766		2203	4300	6503	SO:0001583	missense	1796				fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway	cytosol|perinuclear region of cytoplasm	insulin receptor binding	g.chr2:74783766C>G	U70987	CCDS1954.1, CCDS56125.1	2p13	2008-05-21	2002-08-29		ENSG00000115325	ENSG00000115325			2990	protein-coding gene	gene with protein product		602919	"docking protein 1, 62kD (downstream of tyrosine kinase 1)"			9008160, 9790776, 15546884	Standard	NM_001381		Approved	p62dok	uc002sms.3	Q99704	OTTHUMG00000129956	ENST00000233668.5:c.971C>G	2.37:g.74783766C>G	ENSP00000233668:p.Ala324Gly					DOK1_ENST00000409429.1_Missense_Mutation_p.A185G|DOK1_ENST00000480318.1_3'UTR|DOK1_ENST00000340004.6_3'UTR	p.A324G	NM_001381.3	NP_001372.1	Q99704	DOK1_HUMAN			5	1640	+			324					O43204|Q53TY2|Q9UHG6	Missense_Mutation	SNP	ENST00000233668.5	37	c.971C>G	CCDS1954.1	.	.	.	.	.	.	.	.	.	.	C	1.289	-0.608073	0.03717	.	.	ENSG00000115325	ENST00000409429;ENST00000233668	T;T	0.32753	1.44;1.46	4.71	3.74	0.42951	.	0.312733	0.21958	N	0.066634	T	0.18425	0.0442	L	0.35414	1.06	0.18873	N	0.999985	B;B	0.06786	0.001;0.001	B;B	0.10450	0.003;0.005	T	0.10268	-1.0637	10	0.18276	T	0.48	-32.1236	5.1701	0.15105	0.0:0.6695:0.2146:0.1159	.	313;324	B4DJN1;Q99704	.;DOK1_HUMAN	G	185;324	ENSP00000387016:A185G;ENSP00000233668:A324G	ENSP00000233668:A324G	A	+	2	0	DOK1	74637274	0.032000	0.19561	0.280000	0.24747	0.090000	0.18270	0.526000	0.22971	2.448000	0.82819	0.561000	0.74099	GCT		0.567	DOK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252218.3	NM_001381		26	100	0	0	0	1	0	26	100					G	74783766	C	G	74783766	3	3	205	1	0	0	0	0	1	0	0	0	4696	797	28	5	989	5	DOK1	2	74783766	Missense_Mutation	SNP	C	TCGA-HC-7213-01A-11D-2114-08	11500809	74783766	168415607	7	9416											
UBR3	130507	broad.mit.edu	37	chr2	170885949	170885949	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctcacccagttagaagagaTgaatccacagtaagtataat	16	9	8	8	0	1	3	1	1	0	2	2	4	2	3	2	0	0	4	2	0	6	4			TCGA-HC-7213-01A-11D-2114-08	TCGA-HC-7213-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	423b7b92-135d-40ff-9db4-37afd44f6094	89d60af8-dd60-4b74-88f5-779f6e026865	g.chr2:170885949T>A	ENST00000272793.5	+	31	4597	c.4547T>A	c.(4546-4548)aTg>aAg	p.M1516K	UBR3_ENST00000418381.1_Missense_Mutation_p.M1516K|UBR3_ENST00000392631.1_Missense_Mutation_p.M337K			Q6ZT12	UBR3_HUMAN	ubiquitin protein ligase E3 component n-recognin 3 (putative)	1516					embryo development (GO:0009790)|in utero embryonic development (GO:0001701)|olfactory behavior (GO:0042048)|sensory perception of smell (GO:0007608)|suckling behavior (GO:0001967)|ubiquitin-dependent protein catabolic process (GO:0006511)	integral component of membrane (GO:0016021)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(3)|stomach(1)	33						TTAGAAGAGATGAATCCACAG	0.318																																						ENST00000272793.5																			0				breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(3)|stomach(1)	33						c.(4546-4548)aTg>aAg		ubiquitin protein ligase E3 component n-recognin 3 (putative)							78	74	75					2																	170885949		2203	4300	6503	SO:0001583	missense	130507				sensory perception of smell|suckling behavior|ubiquitin-dependent protein catabolic process	integral to membrane	ubiquitin-protein ligase activity|zinc ion binding	g.chr2:170885949T>A	AL834144	CCDS2238.2	2q31.1	2008-06-23	2008-06-23	2007-11-29	ENSG00000144357	ENSG00000144357		"Ubiquitin protein ligase E3 component n-recognins"	30467	protein-coding gene	gene with protein product		613831	"zinc finger protein 650"	ZNF650		17462990	Standard	NM_172070		Approved	KIAA2024, DKFZp434P117, FLJ37422	uc010zdi.2	Q6ZT12	OTTHUMG00000132229	ENST00000272793.5:c.4547T>A	2.37:g.170885949T>A	ENSP00000272793:p.Met1516Lys					UBR3_ENST00000392631.1_Missense_Mutation_p.M337K|UBR3_ENST00000418381.1_Missense_Mutation_p.M1516K	p.M1516K			Q6ZT12	UBR3_HUMAN			31	4597	+			1516					B4DZR7|Q2KHN5|Q6ZR55|Q6ZSC2|Q8IVE7|Q8ND96	Missense_Mutation	SNP	ENST00000272793.5	37	c.4547T>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	2.044|2.044	-0.419377|-0.419377	0.04766|0.04766	.|.	.|.	ENSG00000144357|ENSG00000144357	ENST00000272793;ENST00000442603;ENST00000418381;ENST00000392631;ENST00000439681|ENST00000392632	T;T;T;T|.	0.42513|.	0.97;0.97;0.97;0.97|.	4.73|4.73	4.73|4.73	0.59995|0.59995	.|.	0.377771|.	0.33023|.	N|.	0.005379|.	T|.	0.17152|.	0.0412|.	N|N	0.04508|0.04508	-0.205|-0.205	0.25696|0.25696	N|N	0.985634|0.985634	B;B;B|.	0.02656|.	0.0;0.0;0.0|.	B;B;B|.	0.01281|.	0.0;0.0;0.0|.	T|.	0.15723|.	-1.0427|.	10|.	0.05959|.	T|.	0.93|.	.|.	7.9521|7.9521	0.30021|0.30021	0.2949:0.0:0.0:0.7051|0.2949:0.0:0.0:0.7051	.|.	1516;337;1545|.	Q6ZT12;Q6ZT12-2;E7EVK3|.	UBR3_HUMAN;.;.|.	K|R	1516;1545;1516;337;216|578	ENSP00000272793:M1516K;ENSP00000396068:M1516K;ENSP00000376408:M337K;ENSP00000389097:M216K|.	ENSP00000272793:M1516K|.	M|X	+|+	2|1	0|0	UBR3|UBR3	170594195|170594195	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.859000|0.859000	0.49053|0.49053	0.723000|0.723000	0.25939|0.25939	1.876000|1.876000	0.54355|0.54355	0.460000|0.460000	0.39030|0.39030	ATG|TGA		0.318	UBR3-001	KNOWN	non_canonical_conserved|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000255290.2	NM_172070		13	33	0	0	0	1	0	13	33					A	170885949	T	A	170885949	3	1	205	1	0	0	0	0	1	0	0	0	16900	1464	51	5	4669	5	UBR3	2	170885949	Missense_Mutation	SNP	T	TCGA-HC-7213-01A-11D-2114-08	96102183	170885949	72313424	8	9417											
SPHKAP	80309	broad.mit.edu	37	chr2	228881544	228881544	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tttgcacacttctctgcttgCgagggagagccaccagaaac	10	9	10	12	1	1	2	0	0	1	2	2	4	1	2	2	1	5	2	2	1	1	3	rs202068655		TCGA-HC-7213-01A-11D-2114-08	TCGA-HC-7213-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	423b7b92-135d-40ff-9db4-37afd44f6094	89d60af8-dd60-4b74-88f5-779f6e026865	g.chr2:228881544C>T	ENST00000392056.3	-	7	4072	c.4026G>A	c.(4024-4026)tcG>tcA	p.S1342S	SPHKAP_ENST00000344657.5_Silent_p.S1342S	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	1342						extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|Z disc (GO:0030018)	protein kinase A binding (GO:0051018)			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		TCTCTGCTTGCGAGGGAGAGC	0.527													C|||	1	0.000199681	0	0	5008	,	,		19783	0		0.001	False		,,,				2504	0					ENST00000392056.3																			0				NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185						c.(4024-4026)tcG>tcA		SPHK1 interactor, AKAP domain containing		C	,	0,4406		0,0,2203	92	81	84		4026,4026	-3.7	0	2		84	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	SPHKAP	NM_001142644.1,NM_030623.3	,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,	1342/1701,1342/1672	228881544	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	80309					cytoplasm	protein binding	g.chr2:228881544C>T		CCDS33389.1, CCDS46537.1	2q36.3	2010-08-20			ENSG00000153820	ENSG00000153820		"A-kinase anchor proteins"	30619	protein-coding gene	gene with protein product	"sphingosine kinase type 1-interacting protein"	611646				12080051, 11214970	Standard	NM_030623		Approved	SKIP	uc002vpq.2	Q2M3C7	OTTHUMG00000153584	ENST00000392056.3:c.4026G>A	2.37:g.228881544C>T						SPHKAP_ENST00000344657.5_Silent_p.S1342S	p.S1342S	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)	7	4072	-		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)	1342					Q68DA3|Q68DR8|Q9C0I5	Silent	SNP	ENST00000392056.3	37	c.4026G>A	CCDS46537.1																																																																																				0.527	SPHKAP-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331750.1	NM_030623		7	48	0	0	0	1	0	7	48					T	228881544	C	T	228881544	2	4	205	1	0	0	0	0	0	0	0	1	15047	755	27	1		1	SPHKAP	2	228881544	Silent	SNP	C	TCGA-HC-7213-01A-11D-2114-08	57995595	228881544	14317829	9	9418											
CPNE9	151835	broad.mit.edu	37	chr3	9754286	9754286	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cagaagagcttagcaattgtCgggtcagtaagggccacatg	12	8	13	8	1	1	2	1	0	0	2	2	2	1	2	1	2	2	3	1	2	4	3			TCGA-HC-7213-01A-11D-2114-08	TCGA-HC-7213-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	423b7b92-135d-40ff-9db4-37afd44f6094	89d60af8-dd60-4b74-88f5-779f6e026865	g.chr3:9754286C>T	ENST00000383832.3	+	8	629	c.439C>T	c.(439-441)Cgg>Tgg	p.R147W	CPNE9_ENST00000383831.3_Missense_Mutation_p.R147W	NM_153635.2	NP_705899.2	Q8IYJ1	CPNE9_HUMAN	copine family member IX	147	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.					extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	16	Medulloblastoma(99;0.227)					TAGCAATTGTCGGGTCAGTAA	0.532																																						ENST00000383832.3																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	16						c.(439-441)Cgg>Tgg		copine family member IX							101	101	101					3																	9754286		2047	4210	6257	SO:0001583	missense	151835							g.chr3:9754286C>T		CCDS2574.2	3p25.3	2008-10-30			ENSG00000144550	ENSG00000144550			24336	protein-coding gene	gene with protein product						9430674	Standard	XM_006712990		Approved	KIAA4217	uc003bsd.3	Q8IYJ1	OTTHUMG00000128418	ENST00000383832.3:c.439C>T	3.37:g.9754286C>T	ENSP00000373343:p.Arg147Trp					CPNE9_ENST00000383831.3_Missense_Mutation_p.R147W	p.R147W	NM_153635.2	NP_705899.2	Q8IYJ1	CPNE9_HUMAN			8	629	+	Medulloblastoma(99;0.227)		147			C2 2.		A1L430|A6NDX6|A8MSP8	Missense_Mutation	SNP	ENST00000383832.3	37	c.439C>T	CCDS2574.2	.	.	.	.	.	.	.	.	.	.	C	21.6	4.167795	0.78339	.	.	ENSG00000144550	ENST00000383832;ENST00000383831	T;T	0.39787	1.06;1.06	4.34	3.45	0.39498	C2 calcium-dependent membrane targeting (1);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	T	0.61776	0.2374	M	0.85945	2.785	0.51767	D	0.999935	D	0.71674	0.998	P	0.58266	0.836	T	0.69285	-0.5185	10	0.87932	D	0	.	12.5242	0.56077	0.1674:0.8326:0.0:0.0	.	147	Q8IYJ1	CPNE9_HUMAN	W	147	ENSP00000373343:R147W;ENSP00000373342:R147W	ENSP00000373342:R147W	R	+	1	2	CPNE9	9729286	0.997000	0.39634	1.000000	0.80357	0.998000	0.95712	1.724000	0.38064	1.026000	0.39733	0.591000	0.81541	CGG		0.532	CPNE9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250205.4	NM_001033755		44	71	0	0	0	1	0	44	71					T	9754286	C	T	9754286	3	4	205	1	0	0	0	0	1	0	0	0	3819	875	31	2	465	2	CPNE9	3	9754286	Missense_Mutation	SNP	C	TCGA-HC-7213-01A-11D-2114-08		9754286	188268144	10	9419											
MST1R	4486	broad.mit.edu	37	chr3	49935036	49935036	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttagtcacggtgaggctgaCgttggtaggccccactgcct	6	10	14	11	2	1	2	1	2	0	0	1	2	1	2	3	4	1	4	3	4	2	3			TCGA-HC-7213-01A-11D-2114-08	TCGA-HC-7213-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	423b7b92-135d-40ff-9db4-37afd44f6094	89d60af8-dd60-4b74-88f5-779f6e026865	g.chr3:49935036C>T	ENST00000296474.3	-	6	1990	c.1963G>A	c.(1963-1965)Gtc>Atc	p.V655I	MST1R_ENST00000344206.4_Missense_Mutation_p.V655I|CTD-2330K9.2_ENST00000435478.1_RNA	NM_002447.2	NP_002438	Q04912	RON_HUMAN	macrophage stimulating 1 receptor (c-met-related tyrosine kinase)	655	IPT/TIG 1.				cellular component movement (GO:0006928)|defense response (GO:0006952)|innate immune response (GO:0045087)|macrophage colony-stimulating factor signaling pathway (GO:0038145)|multicellular organismal development (GO:0007275)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|response to virus (GO:0009615)|signal transduction (GO:0007165)|single fertilization (GO:0007338)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|macrophage colony-stimulating factor receptor activity (GO:0005011)			cervix(1)|endometrium(5)|large_intestine(3)|lung(17)|ovary(5)|prostate(2)|skin(1)|urinary_tract(3)	37				BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625)		GTGAGGCTGACGTTGGTAGGC	0.607																																						ENST00000296474.3																			0				cervix(1)|endometrium(5)|large_intestine(3)|lung(17)|ovary(5)|prostate(2)|skin(1)|urinary_tract(3)	37						c.(1963-1965)Gtc>Atc		macrophage stimulating 1 receptor (c-met-related tyrosine kinase)							83	69	74					3																	49935036		2203	4300	6503	SO:0001583	missense	4486				cellular component movement|defense response|multicellular organismal development|positive regulation of cell proliferation|single fertilization|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|macrophage colony-stimulating factor receptor activity|protein binding	g.chr3:49935036C>T	X70040	CCDS2807.1, CCDS58833.1	3p21	2008-08-18			ENSG00000164078	ENSG00000164078		"CD molecules"	7381	protein-coding gene	gene with protein product		600168	"PTK8 protein tyrosine kinase 8"	RON, PTK8		8386824	Standard	NM_002447		Approved	CDw136, CD136	uc003cxy.4	Q04912	OTTHUMG00000156709	ENST00000296474.3:c.1963G>A	3.37:g.49935036C>T	ENSP00000296474:p.Val655Ile					MST1R_ENST00000344206.4_Missense_Mutation_p.V655I	p.V655I	NM_002447.2	NP_002438.2	Q04912	RON_HUMAN		BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625)	6	1990	-			655			IPT/TIG 1.		B5A944|B5A945|B5A946|B5A947	Missense_Mutation	SNP	ENST00000296474.3	37	c.1963G>A	CCDS2807.1	.	.	.	.	.	.	.	.	.	.	C	7.881	0.730284	0.15507	.	.	ENSG00000164078	ENST00000296474;ENST00000344206	T;T	0.80033	-1.33;-1.33	5.35	-7.52	0.01341	Cell surface receptor IPT/TIG (2);Immunoglobulin-like fold (1);	0.522542	0.22100	N	0.064629	T	0.59838	0.2223	N	0.13327	0.33	0.18873	N	0.999988	B;B	0.17667	0.023;0.019	B;B	0.16722	0.012;0.016	T	0.40421	-0.9564	10	0.07644	T	0.81	-5.2541	19.7864	0.96440	0.0:0.8872:0.0:0.1128	.	655;655	Q04912-5;Q04912	.;RON_HUMAN	I	655	ENSP00000296474:V655I;ENSP00000341325:V655I	ENSP00000296474:V655I	V	-	1	0	MST1R	49910040	0.000000	0.05858	0.249000	0.24280	0.915000	0.54546	-0.913000	0.04042	-1.749000	0.01330	-0.258000	0.10820	GTC		0.607	MST1R-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000345403.1			4	67	0	0	0	1	0	4	67					T	49935036	C	T	49935036	3	4	205	1	0	0	0	0	1	0	0	0	9891	536	19	1	2299	1	MST1R	3	49935036	Missense_Mutation	SNP	C	TCGA-HC-7213-01A-11D-2114-08	40180750	49935036	148087394	11	9420											
PLSCR1	5359	broad.mit.edu	37	chr3	146246434	146246434	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tctaatccaggtggacagttTaatggaggctgtggcgctgg	8	11	15	7	1	1	0	0	0	1	0	2	2	2	2	1	6	0	3	1	6	2	3			TCGA-HC-7213-01A-11D-2114-08	TCGA-HC-7213-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	423b7b92-135d-40ff-9db4-37afd44f6094	89d60af8-dd60-4b74-88f5-779f6e026865	g.chr3:146246434T>C	ENST00000342435.4	-	4	689	c.279A>G	c.(277-279)ttA>ttG	p.L93L	PLSCR1_ENST00000448787.2_Intron|PLSCR1_ENST00000487389.1_Silent_p.L86L|PLSCR1_ENST00000448205.1_Intron	NM_021105.2	NP_066928.1	O15162	PLS1_HUMAN	phospholipid scramblase 1	93					acute-phase response (GO:0006953)|apoptotic process (GO:0006915)|defense response to virus (GO:0051607)|negative regulation of viral genome replication (GO:0045071)|phosphatidylserine biosynthetic process (GO:0006659)|phospholipid scrambling (GO:0017121)|platelet activation (GO:0030168)|positive regulation of DNA topoisomerase (ATP-hydrolyzing) activity (GO:2000373)|positive regulation of gene expression (GO:0010628)|positive regulation of innate immune response (GO:0045089)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of Fc receptor mediated stimulatory signaling pathway (GO:0060368)|regulation of mast cell activation (GO:0033003)|response to interferon-beta (GO:0035456)	cytosol (GO:0005829)|extracellular matrix (GO:0031012)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|membrane raft (GO:0045121)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|CD4 receptor binding (GO:0042609)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|epidermal growth factor receptor binding (GO:0005154)|phospholipid scramblase activity (GO:0017128)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|SH3 domain binding (GO:0017124)			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1)	15						GTGGACAGTTTAATGGAGGCT	0.428																																						ENST00000342435.4																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1)	15						c.(277-279)ttA>ttG		phospholipid scramblase 1							99	105	103					3																	146246434		2203	4300	6503	SO:0001819	synonymous_variant	5359				phospholipid scrambling|platelet activation|response to virus	integral to membrane|plasma membrane	calcium ion binding|phospholipid scramblase activity|SH3 domain binding	g.chr3:146246434T>C	AF098642	CCDS3135.1	3q23	2004-02-27			ENSG00000188313	ENSG00000188313			9092	protein-coding gene	gene with protein product		604170				9218461	Standard	NM_021105		Approved	MMTRA1B	uc003evx.4	O15162	OTTHUMG00000159427	ENST00000342435.4:c.279A>G	3.37:g.146246434T>C						PLSCR1_ENST00000448787.2_Intron|PLSCR1_ENST00000448205.1_Intron|PLSCR1_ENST00000487389.1_Silent_p.L86L	p.L93L	NM_021105.2	NP_066928.1	O15162	PLS1_HUMAN			4	689	-			93					B2R8H8|B4DTE8	Silent	SNP	ENST00000342435.4	37	c.279A>G	CCDS3135.1																																																																																				0.428	PLSCR1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000355257.2	NM_021105		65	99	0	0	0	1	0	65	99					C	146246434	T	C	146246434	2	2	205	1	0	0	0	0	0	0	0	1	12109	1751	61	4		4	PLSCR1	3	146246434	Silent	SNP	T	TCGA-HC-7213-01A-11D-2114-08	96311398	146246434	51775996	12	9421											
PLSCR5	389158	broad.mit.edu	37	chr3	146307581	146307581	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gaaatcttcccaattgtaagCttttcattaatggttttcac	11	17	5	8	0	3	0	2	0	1	0	4	1	4	0	1	1	1	3	1	1	4	8			TCGA-HC-7213-01A-11D-2114-08	TCGA-HC-7213-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	423b7b92-135d-40ff-9db4-37afd44f6094	89d60af8-dd60-4b74-88f5-779f6e026865	g.chr3:146307581C>T	ENST00000443512.1	-	6	1639	c.636G>A	c.(634-636)aaG>aaA	p.K212K	PLSCR5_ENST00000482567.1_Silent_p.K200K|PLSCR5-AS1_ENST00000473817.1_RNA|PLSCR5_ENST00000492200.1_Silent_p.K212K	NM_001085420.1	NP_001078889.1	A0PG75	PLS5_HUMAN	phospholipid scramblase family, member 5	212										endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|urinary_tract(1)	12						CAATTGTAAGCTTTTCATTAA	0.328																																						ENST00000443512.1																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|urinary_tract(1)	12						c.(634-636)aaG>aaA		phospholipid scramblase family, member 5							106	103	104					3																	146307581		1818	4070	5888	SO:0001819	synonymous_variant	389158							g.chr3:146307581C>T	AY436642	CCDS46931.1	3q24	2004-06-28			ENSG00000231213	ENSG00000231213			19952	protein-coding gene	gene with protein product							Standard	NM_001085420		Approved		uc010hvc.3	A0PG75	OTTHUMG00000159437	ENST00000443512.1:c.636G>A	3.37:g.146307581C>T						PLSCR5-AS1_ENST00000473817.1_RNA|PLSCR5_ENST00000492200.1_Silent_p.K212K|PLSCR5_ENST00000482567.1_Silent_p.K200K	p.K212K	NM_001085420.1	NP_001078889.1	A0PG75	PLS5_HUMAN			6	1639	-			212					B2RXK5	Silent	SNP	ENST00000443512.1	37	c.636G>A	CCDS46931.1																																																																																				0.328	PLSCR5-003	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355365.1	XM_371670		3	53	0	0	0	1	0	3	53					T	146307581	C	T	146307581	2	4	205	1	0	0	0	0	0	0	0	1	12113	796	28	3		3	PLSCR5	3	146307581	Silent	SNP	C	TCGA-HC-7213-01A-11D-2114-08	61147	146307581	51714849	13	9422											
HTR3C	170572	broad.mit.edu	37	chr3	183778109	183778109	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctcttcatggcctcctccaTccttactgtcattgtcctct	4	16	5	16	0	4	0	2	0	2	0	8	0	8	0	5	1	1	1	5	1	1	3			TCGA-HC-7213-01A-11D-2114-08	TCGA-HC-7213-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	423b7b92-135d-40ff-9db4-37afd44f6094	89d60af8-dd60-4b74-88f5-779f6e026865	g.chr3:183778109T>A	ENST00000318351.1	+	9	1347	c.1313T>A	c.(1312-1314)aTc>aAc	p.I438N		NM_130770.2	NP_570126.2	Q8WXA8	5HT3C_HUMAN	5-hydroxytryptamine (serotonin) receptor 3C, ionotropic	438					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	extracellular ligand-gated ion channel activity (GO:0005230)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(2)	32	all_cancers(143;2.33e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)		Ergoloid mesylate(DB01049)	GCCTCCTCCATCCTTACTGTC	0.567																																						ENST00000318351.1																			0				central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(2)	32						c.(1312-1314)aTc>aAc		5-hydroxytryptamine (serotonin) receptor 3C, ionotropic							235	198	210					3																	183778109		2203	4300	6503	SO:0001583	missense	170572					integral to membrane|plasma membrane|postsynaptic membrane	extracellular ligand-gated ion channel activity|receptor activity	g.chr3:183778109T>A	AF459285	CCDS3250.1	3q27	2012-05-22	2012-02-03		ENSG00000178084	ENSG00000178084		"5-HT (serotonin) receptors", "Ligand-gated ion channels / 5-HT (serotonin) receptors, ionotropic"	24003	protein-coding gene	gene with protein product		610121	"5-hydroxytryptamine (serotonin) receptor 3, family member C"			12801637, 15157181	Standard	NM_130770		Approved		uc003fmk.3	Q8WXA8	OTTHUMG00000156862	ENST00000318351.1:c.1313T>A	3.37:g.183778109T>A	ENSP00000322617:p.Ile438Asn						p.I438N	NM_130770.2	NP_570126.2	Q8WXA8	5HT3C_HUMAN	Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)		9	1347	+	all_cancers(143;2.33e-10)|Ovarian(172;0.0303)		438					A2RRR5	Missense_Mutation	SNP	ENST00000318351.1	37	c.1313T>A	CCDS3250.1	.	.	.	.	.	.	.	.	.	.	T	20.8	4.055816	0.76074	.	.	ENSG00000178084	ENST00000318351	D	0.81996	-1.56	4.35	3.2	0.36748	Neurotransmitter-gated ion-channel transmembrane domain (1);	0.729498	0.12428	N	0.469766	D	0.84906	0.5576	L	0.55481	1.735	0.09310	N	1	D	0.56287	0.975	P	0.56216	0.794	T	0.73720	-0.3894	10	0.72032	D	0.01	-6.8455	7.939	0.29946	0.0:0.099:0.0:0.901	.	438	Q8WXA8	5HT3C_HUMAN	N	438	ENSP00000322617:I438N	ENSP00000322617:I438N	I	+	2	0	HTR3C	185260803	0.002000	0.14202	0.006000	0.13384	0.751000	0.42716	1.285000	0.33261	0.729000	0.32403	0.529000	0.55759	ATC		0.567	HTR3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346296.1	NM_130770		90	170	0	0	0	1	0	90	170					A	183778109	T	A	183778109	3	1	205	1	0	0	0	0	1	0	0	0	7446	1435	50	5	1347	5	HTR3C	3	183778109	Missense_Mutation	SNP	T	TCGA-HC-7213-01A-11D-2114-08	37470528	183778109	14244321	14	9423											
HTT	3064	broad.mit.edu	37	chr4	3076673	3076675	+	In_Frame_Del	DEL	CCG	CCG	-																															agcagcagcaacagccgccaCcgccgccgccgccgccgccg																										TCGA-HC-7213-01A-11D-2114-08	TCGA-HC-7213-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	423b7b92-135d-40ff-9db4-37afd44f6094	89d60af8-dd60-4b74-88f5-779f6e026865	g.chr4:3076673_3076675delCCG	ENST00000355072.5	+	1	266_268	c.121_123delCCG	c.(121-123)ccgdel	p.P49del	HTT-AS_ENST00000503893.1_RNA	NM_002111.6	NP_002102	P42858	HD_HUMAN	huntingtin	49	Poly-Pro.				anterior/posterior pattern specification (GO:0009952)|axon cargo transport (GO:0008088)|cell aging (GO:0007569)|citrulline metabolic process (GO:0000052)|determination of adult lifespan (GO:0008340)|dopamine receptor signaling pathway (GO:0007212)|endoplasmic reticulum organization (GO:0007029)|endosomal transport (GO:0016197)|ER to Golgi vesicle-mediated transport (GO:0006888)|establishment of mitotic spindle orientation (GO:0000132)|Golgi organization (GO:0007030)|grooming behavior (GO:0007625)|hormone metabolic process (GO:0042445)|insulin secretion (GO:0030073)|iron ion homeostasis (GO:0055072)|L-glutamate import (GO:0051938)|lactate biosynthetic process from pyruvate (GO:0019244)|locomotory behavior (GO:0007626)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of neuron apoptotic process (GO:0043524)|neural plate formation (GO:0021990)|neuron apoptotic process (GO:0051402)|neuron development (GO:0048666)|olfactory lobe development (GO:0021988)|organ development (GO:0048513)|paraxial mesoderm formation (GO:0048341)|positive regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031587)|protein import into nucleus (GO:0006606)|quinolinate biosynthetic process (GO:0019805)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of protein phosphatase type 2A activity (GO:0034047)|regulation of synaptic plasticity (GO:0048167)|response to calcium ion (GO:0051592)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|social behavior (GO:0035176)|spermatogenesis (GO:0007283)|striatum development (GO:0021756)|urea cycle (GO:0000050)|vesicle transport along microtubule (GO:0047496)|visual learning (GO:0008542)	autophagic vacuole (GO:0005776)|axon (GO:0030424)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|inclusion body (GO:0016234)|late endosome (GO:0005770)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein complex (GO:0043234)	beta-tubulin binding (GO:0048487)|diazepam binding (GO:0050809)|dynactin binding (GO:0034452)|dynein intermediate chain binding (GO:0045505)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|p53 binding (GO:0002039)|transcription factor binding (GO:0008134)			breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		acagccgccaccgccgccgccgc	0.744																																						ENST00000355072.5																			0				breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87						c.(121-123)del		huntingtin				73,3,68		35,0,3,1,1,32						-3.5	0		dbSNP_130	1	207,9,436		96,0,15,4,1,210	no	codingComplex	HTT	NM_002111.6		131,0,18,5,2,242	A1A1,A1A2,A1R,A2A2,A2R,RR		33.1288,49.3056,36.6834				280,12,504				SO:0001651	inframe_deletion	3064				establishment of mitotic spindle orientation|Golgi organization|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule	autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|Golgi apparatus|late endosome|membrane fraction|nucleus|protein complex	beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding	g.chr4:3076673_3076675delCCG	L12392	CCDS43206.1	4p16.3	2014-09-17	2007-12-04	2007-12-04	ENSG00000197386	ENSG00000197386		"Endogenous ligands"	4851	protein-coding gene	gene with protein product		613004	"huntingtin (Huntington disease)"	HD		8458085	Standard	NM_002111		Approved	IT15	uc021xkv.1	P42858	OTTHUMG00000159916	ENST00000355072.5:c.121_123delCCG	4.37:g.3076682_3076684delCCG	ENSP00000347184:p.Pro49del						p.P49del	NM_002111.6	NP_002102.4	P42858	HD_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)	1	266_268	+		all_epithelial(65;0.18)	49			Poly-Pro.		Q9UQB7	In_Frame_Del	DEL	ENST00000355072.5	37	c.121_123delCCG	CCDS43206.1																																																																																				0.744	HTT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358234.2	NM_002111		2	4						2	4	---	---	---	---	-	3076675	CCG	-	3076673	7	5	205	1	0	1	0	1	0	0	0	0	7457	507	18	0	123	0	HTT	4	3076673	In_Frame_Del	DEL	CCG	TCGA-HC-7213-01A-11D-2114-08		3076673	188077603	15	9424											
CDKL2	8999	broad.mit.edu	37	chr4	76532380	76532380	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcttacttgccatacttgaCatcaccaaccaatagttctg	11	13	5	12	0	3	1	1	1	2	0	3	1	3	1	3	0	4	1	3	0	5	6			TCGA-HC-7213-01A-11D-2114-08	TCGA-HC-7213-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	423b7b92-135d-40ff-9db4-37afd44f6094	89d60af8-dd60-4b74-88f5-779f6e026865	g.chr4:76532380C>T	ENST00000429927.2	-	4	1232	c.529G>A	c.(529-531)Gtc>Atc	p.V177I	CDKL2_ENST00000307465.4_Missense_Mutation_p.V177I	NM_003948.3	NP_003939.1	Q92772	CDKL2_HUMAN	cyclin-dependent kinase-like 2 (CDC2-related kinase)	177	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				sex differentiation (GO:0007548)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672)			breast(3)|endometrium(1)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(2)|stomach(2)	22			Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122)			CCATACTTGACATCACCAACC	0.418																																						ENST00000429927.2																			0				breast(3)|endometrium(1)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(2)|stomach(2)	22						c.(529-531)Gtc>Atc		cyclin-dependent kinase-like 2 (CDC2-related kinase)							94	91	92					4																	76532380		2203	4300	6503	SO:0001583	missense	8999				sex differentiation|signal transduction	cytoplasm|nucleus	ATP binding|cyclin-dependent protein kinase activity	g.chr4:76532380C>T	U35146	CCDS3570.1	4q21.21	2011-11-04			ENSG00000138769	ENSG00000138769		"Cyclin-dependent kinases"	1782	protein-coding gene	gene with protein product		603442				9000130	Standard	NM_003948		Approved	P56, KKIAMRE	uc003hiq.3	Q92772	OTTHUMG00000130103	ENST00000429927.2:c.529G>A	4.37:g.76532380C>T	ENSP00000412365:p.Val177Ile					CDKL2_ENST00000307465.4_Missense_Mutation_p.V177I	p.V177I	NM_003948.3	NP_003939.1	Q92772	CDKL2_HUMAN	Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122)		4	1232	-			177			Protein kinase.		B2R695	Missense_Mutation	SNP	ENST00000429927.2	37	c.529G>A	CCDS3570.1	.	.	.	.	.	.	.	.	.	.	C	12.09	1.832933	0.32421	.	.	ENSG00000138769	ENST00000429927;ENST00000307465	T;T	0.65178	-0.14;-0.14	4.72	2.06	0.26882	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	.	.	.	.	T	0.39384	0.1076	N	0.11892	0.195	0.26435	N	0.975871	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.22103	-1.0226	9	0.35671	T	0.21	-4.3391	5.8974	0.18947	0.0:0.5552:0.0:0.4448	.	177;177	B4DH08;Q92772	.;CDKL2_HUMAN	I	177	ENSP00000412365:V177I;ENSP00000306340:V177I	ENSP00000306340:V177I	V	-	1	0	CDKL2	76751404	0.817000	0.29147	0.993000	0.49108	0.965000	0.64279	1.015000	0.29963	0.717000	0.32145	0.639000	0.83563	GTC		0.418	CDKL2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000252409.2	NM_003948		41	54	0	0	0	1	0	41	54					T	76532380	C	T	76532380	3	4	205	1	0	0	0	0	1	0	0	0	3154	478	17	3	984	3	CDKL2	4	76532380	Missense_Mutation	SNP	C	TCGA-HC-7213-01A-11D-2114-08	73455707	76532380	114621896	16	9425											
MTTP	4547	broad.mit.edu	37	chr4	100534204	100534204	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agacctgtcacctttttcaaCggatacagtgatttgatgtc	10	14	8	9	1	2	3	2	2	0	1	3	4	2	4	2	1	2	0	2	1	2	4			TCGA-HC-7213-01A-11D-2114-08	TCGA-HC-7213-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	423b7b92-135d-40ff-9db4-37afd44f6094	89d60af8-dd60-4b74-88f5-779f6e026865	g.chr4:100534204C>T	ENST00000265517.5	+	15	2327	c.2124C>T	c.(2122-2124)aaC>aaT	p.N708N	MTTP_ENST00000511045.1_Silent_p.N735N|MTTP_ENST00000457717.1_Silent_p.N708N|RP11-766F14.1_ENST00000508578.1_RNA			P55157	MTP_HUMAN	microsomal triglyceride transfer protein	708					cholesterol homeostasis (GO:0042632)|lipid metabolic process (GO:0006629)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|protein lipidation (GO:0006497)|response to calcium ion (GO:0051592)|small molecule metabolic process (GO:0044281)|triglyceride metabolic process (GO:0006641)	basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|endoplasmic reticulum lumen (GO:0005788)|Golgi apparatus (GO:0005794)|membrane-bounded vesicle (GO:0031988)|microvillus membrane (GO:0031528)|receptor complex (GO:0043235)|rough endoplasmic reticulum (GO:0005791)	lipid binding (GO:0008289)|lipid transporter activity (GO:0005319)	p.N708N(1)		breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(14)|lung(19)|ovary(4)|prostate(5)|skin(1)|urinary_tract(1)	57				OV - Ovarian serous cystadenocarcinoma(123;6.04e-09)	Hesperetin(DB01094)|Lomitapide(DB08827)	CCTTTTTCAACGGATACAGTG	0.478																																						ENST00000457717.1																			1	Substitution - coding silent(1)	p.N708N(1)	endometrium(1)	breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(14)|lung(19)|ovary(4)|prostate(5)|skin(1)|urinary_tract(1)	57						c.(2122-2124)aaC>aaT		microsomal triglyceride transfer protein	Hesperetin(DB01094)						183	162	169					4																	100534204		2203	4300	6503	SO:0001819	synonymous_variant	4547				lipid metabolic process|lipoprotein metabolic process	endoplasmic reticulum lumen	lipid binding|lipid transporter activity	g.chr4:100534204C>T		CCDS3651.1, CCDS75169.1	4q24	2008-02-05	2005-11-04	2005-11-04	ENSG00000138823	ENSG00000138823			7467	protein-coding gene	gene with protein product		157147	"microsomal triglyceride transfer protein (large polypeptide, 88kD)", "microsomal triglyceride transfer protein (large polypeptide, 88kDa)"	MTP		8111381	Standard	XM_005263025		Approved	ABL	uc003hvc.4	P55157	OTTHUMG00000131023	ENST00000265517.5:c.2124C>T	4.37:g.100534204C>T						MTTP_ENST00000511045.1_Silent_p.N735N|MTTP_ENST00000265517.5_Silent_p.N708N|RP11-766F14.1_ENST00000508578.1_RNA	p.N708N	NM_000253.2	NP_000244.2	P55157	MTP_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;6.04e-09)	16	2380	+			708					A8K428|Q08AM4|Q6P5T3	Silent	SNP	ENST00000265517.5	37	c.2124C>T	CCDS3651.1																																																																																				0.478	MTTP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253662.3			3	78	0	0	0	1	0	3	78					T	100534204	C	T	100534204	2	4	205	1	0	0	0	0	0	0	0	1	9964	535	19	1		1	MTTP	4	100534204	Silent	SNP	C	TCGA-HC-7213-01A-11D-2114-08	24001824	100534204	90620072	17	9426											
NDST4	64579	broad.mit.edu	37	chr4	115856461	115856461	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgtagaaaatagtgtgagtGaacaacccacaagtctgtcg	14	10	10	7	1	1	3	0	2	1	1	2	3	1	3	1	0	2	1	1	0	7	3			TCGA-HC-7213-01A-11D-2114-08	TCGA-HC-7213-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	423b7b92-135d-40ff-9db4-37afd44f6094	89d60af8-dd60-4b74-88f5-779f6e026865	g.chr4:115856461G>T	ENST00000264363.2	-	6	2115	c.1437C>A	c.(1435-1437)ttC>ttA	p.F479L		NM_022569.1	NP_072091.1	Q9H3R1	NDST4_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4	479	Heparan sulfate N-deacetylase 4.				heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparin biosynthetic process (GO:0030210)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine N-sulfotransferase activity (GO:0015016)|deacetylase activity (GO:0019213)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	81		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000562)		TAGTGTGAGTGAACAACCCAC	0.413																																						ENST00000264363.2																			0				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	81						c.(1435-1437)ttC>ttA		N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4							140	141	141					4																	115856461		2203	4300	6503	SO:0001583	missense	64579					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity	g.chr4:115856461G>T	AB036429	CCDS3706.1	4q26	2008-02-05			ENSG00000138653	ENSG00000138653		"Sulfotransferases, membrane-bound"	20779	protein-coding gene	gene with protein product		615039				11087757	Standard	NM_022569		Approved		uc003ibu.3	Q9H3R1	OTTHUMG00000132916	ENST00000264363.2:c.1437C>A	4.37:g.115856461G>T	ENSP00000264363:p.Phe479Leu						p.F479L	NM_022569.1	NP_072091.1	Q9H3R1	NDST4_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000562)	6	2115	-		Ovarian(17;0.156)	479			Heparan sulfate N-deacetylase 4.		Q2KHM8	Missense_Mutation	SNP	ENST00000264363.2	37	c.1437C>A	CCDS3706.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.182637	0.78677	.	.	ENSG00000138653	ENST00000264363	T	0.51574	0.7	5.12	3.37	0.38596	.	0.000000	0.85682	D	0.000000	T	0.68897	0.3051	M	0.89287	3.02	0.53005	D	0.999963	D	0.69078	0.997	D	0.71414	0.973	T	0.72779	-0.4190	10	0.87932	D	0	.	9.0679	0.36475	0.2285:0.0:0.7715:0.0	.	479	Q9H3R1	NDST4_HUMAN	L	479	ENSP00000264363:F479L	ENSP00000264363:F479L	F	-	3	2	NDST4	116075910	1.000000	0.71417	0.999000	0.59377	0.991000	0.79684	3.300000	0.51834	1.137000	0.42214	0.591000	0.81541	TTC		0.413	NDST4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256427.1	NM_022569		18	38	1	0	6.94344e-10	1	8.16159e-10	18	38					T	115856461	G	T	115856461	3	4	205	1	0	0	0	0	1	0	0	0	10258	1281	45	5	1217	5	NDST4	4	115856461	Missense_Mutation	SNP	G	TCGA-HC-7213-01A-11D-2114-08	15322257	115856461	75297815	18	9427											
ADCY2	108	broad.mit.edu	37	chr5	7414748	7414748	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gccctggcgattttctttgcGatatttatcctggtctgcat	5	17	9	10	2	2	0	0	0	2	0	3	2	3	0	2	2	2	1	2	2	2	6	rs149944070		TCGA-HC-7213-01A-11D-2114-08	TCGA-HC-7213-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	423b7b92-135d-40ff-9db4-37afd44f6094	89d60af8-dd60-4b74-88f5-779f6e026865	g.chr5:7414748G>A	ENST00000338316.4	+	2	362	c.273G>A	c.(271-273)gcG>gcA	p.A91A		NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)	91					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cAMP biosynthetic process (GO:0006171)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	adenylate cyclase activity (GO:0004016)|adenylate cyclase binding (GO:0008179)|ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						TTTTCTTTGCGATATTTATCC	0.428																																						ENST00000338316.4																			0				NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						c.(271-273)gcG>gcA		adenylate cyclase 2 (brain)		G		1,4405	2.1+/-5.4	0,1,2202	287	260	269		273	-4.4	0.8	5	dbSNP_134	269	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	ADCY2	NM_020546.2		0,3,6500	AA,AG,GG		0.0233,0.0227,0.0231		91/1092	7414748	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	108				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|dendrite|integral to membrane|plasma membrane	ATP binding|metal ion binding	g.chr5:7414748G>A	AB028983	CCDS3872.2	5p15.3	2013-02-04			ENSG00000078295	ENSG00000078295	4.6.1.1	"Adenylate cyclases"	233	protein-coding gene	gene with protein product		103071				1427768	Standard	NM_020546		Approved	HBAC2, KIAA1060, AC2	uc003jdz.1	Q08462	OTTHUMG00000090476	ENST00000338316.4:c.273G>A	5.37:g.7414748G>A							p.A91A	NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN			2	362	+			91					B7Z2C1|Q2NKL8|Q9UDB2|Q9UPU2	Silent	SNP	ENST00000338316.4	37	c.273G>A	CCDS3872.2																																																																																				0.428	ADCY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206930.2	NM_020546		6	148	0	0	0	1	0	6	148					A	7414748	G	A	7414748	2	1	205	1	0	0	0	0	0	0	0	1	294	1045	37	2		2	ADCY2	5	7414748	Silent	SNP	G	TCGA-HC-7213-01A-11D-2114-08		7414748	173500512	19	9428											
HSPA9	3313	broad.mit.edu	37	chr5	137892208	137892209	+	Frame_Shift_Del	DEL	TT	TT	-																															aggatgctgcctgtctaataTtttctcctgtttcgctgtct																										TCGA-HC-7213-01A-11D-2114-08	TCGA-HC-7213-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	423b7b92-135d-40ff-9db4-37afd44f6094	89d60af8-dd60-4b74-88f5-779f6e026865	g.chr5:137892208_137892209delTT	ENST00000297185.3	-	16	2019_2020	c.1894_1895delAA	c.(1894-1896)aatfs	p.N632fs	SNORD63_ENST00000411005.1_RNA|HSPA9_ENST00000501917.2_Intron	NM_004134.6	NP_004125.3	P38646	GRP75_HUMAN	heat shock 70kDa protein 9 (mortalin)	632					cellular protein metabolic process (GO:0044267)|negative regulation of apoptotic process (GO:0043066)|protein export from nucleus (GO:0006611)|protein folding (GO:0006457)|protein targeting to mitochondrion (GO:0006626)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|unfolded protein binding (GO:0051082)			breast(2)|endometrium(1)|kidney(4)|large_intestine(8)|lung(12)|upper_aerodigestive_tract(1)	28			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			CTGTCTAATATTTTCTCCTGTT	0.401																																						ENST00000297185.3																			0				breast(2)|endometrium(1)|kidney(4)|large_intestine(8)|lung(12)|upper_aerodigestive_tract(1)	28						c.(1894-1896)tfs		heat shock 70kDa protein 9 (mortalin)																																				SO:0001589	frameshift_variant	3313				anti-apoptosis|protein folding	cell surface|mitochondrial nucleoid	ATP binding|unfolded protein binding	g.chr5:137892208_137892209delTT	L11066	CCDS4208.1	5q31.1	2011-09-02	2006-10-31	2006-10-31	ENSG00000113013	ENSG00000113013		"Heat shock proteins / HSP70"	5244	protein-coding gene	gene with protein product		600548	"heat shock 70kDa protein 9B (mortalin-2)"	HSPA9B		7684501	Standard	NM_004134		Approved	GRP75, PBP74, mot-2, mthsp75	uc003ldf.3	P38646	OTTHUMG00000129206	ENST00000297185.3:c.1894_1895delAA	5.37:g.137892210_137892211delTT	ENSP00000297185:p.Asn632fs					HSPA9_ENST00000501917.2_Intron	p.N632fs	NM_004134.6	NP_004125.3	P38646	GRP75_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)		16	2019_2020	-			632					B2RCM1|P30036|P31932|Q1HB43|Q53H23|Q6GU03|Q9BWB7|Q9UC56	Frame_Shift_Del	DEL	ENST00000297185.3	37	c.1894_1895delAA	CCDS4208.1																																																																																				0.401	HSPA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251285.1	NM_004134		86	100						86	100	---	---	---	---	-	137892209	TT	-	137892208	7	5	205	1	0	1	0	1	0	0	0	0	7417	1493	52	0	152	0	HSPA9	5	137892208	Frame_Shift_Del	DEL	TT	TCGA-HC-7213-01A-11D-2114-08	130477460	137892208	43023052	20	9429											
RANBP9	10048	broad.mit.edu	37	chr6	13697085	13697085	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caggctgctggtattggatgCgtggctcgaactgacgcggc	6	9	16	10	4	0	1	0	1	0	0	1	3	0	2	0	5	3	4	0	5	2	2			TCGA-HC-7213-01A-11D-2114-08	TCGA-HC-7213-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	423b7b92-135d-40ff-9db4-37afd44f6094	89d60af8-dd60-4b74-88f5-779f6e026865	g.chr6:13697085C>T	ENST00000011619.3	-	2	673	c.615G>A	c.(613-615)acG>acA	p.T205T		NM_005493.2	NP_005484.2	Q96S59	RANB9_HUMAN	RAN binding protein 9	205	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				axon guidance (GO:0007411)|microtubule nucleation (GO:0007020)|protein complex assembly (GO:0006461)	cytosol (GO:0005829)|microtubule associated complex (GO:0005875)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|Ran GTPase binding (GO:0008536)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|skin(1)	16	Breast(50;0.00669)|Ovarian(93;0.0634)	all_hematologic(90;0.117)	Epithelial(50;0.223)			GTATTGGATGCGTGGCTCGAA	0.403																																						ENST00000011619.3																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|skin(1)	16						c.(613-615)acG>acA		RAN binding protein 9							100	105	103					6																	13697085		2203	4299	6502	SO:0001819	synonymous_variant	10048				axon guidance|microtubule nucleation|protein complex assembly	cytosol|microtubule associated complex|nucleus	Ran GTPase binding	g.chr6:13697085C>T	AB008515	CCDS4529.1	6p23	2010-05-25			ENSG00000010017	ENSG00000010017			13727	protein-coding gene	gene with protein product	"Ran Binding Protein in the Microtubule organizing center"	603854				9817760	Standard	NM_005493		Approved	RanBPM	uc003nbb.3	Q96S59	OTTHUMG00000015642	ENST00000011619.3:c.615G>A	6.37:g.13697085C>T							p.T205T	NM_005493.2	NP_005484.2	Q96S59	RANB9_HUMAN	Epithelial(50;0.223)		2	673	-	Breast(50;0.00669)|Ovarian(93;0.0634)	all_hematologic(90;0.117)	205			B30.2/SPRY.		A0PJA2|B2R8E1|O94764|Q6P3T7|Q7LBR2|Q7Z7F9	Silent	SNP	ENST00000011619.3	37	c.615G>A	CCDS4529.1																																																																																				0.403	RANBP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042373.1			5	129	0	0	0	1	0	5	129					T	13697085	C	T	13697085	2	4	205	1	0	0	0	0	0	0	0	1	13032	755	27	1		1	RANBP9	6	13697085	Silent	SNP	C	TCGA-HC-7213-01A-11D-2114-08		13697085	157417982	21	9430											
TRIM31	11074	broad.mit.edu	37	chr6	30078314	30078314	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caactgtggctcagtggaggCaacatagtgtttccccgctt	8	11	11	11	1	1	0	1	0	0	0	2	1	2	1	2	3	2	4	2	3	3	3			TCGA-HC-7213-01A-11D-2114-08	TCGA-HC-7213-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	423b7b92-135d-40ff-9db4-37afd44f6094	89d60af8-dd60-4b74-88f5-779f6e026865	g.chr6:30078314C>T	ENST00000376734.3	-	4	780	c.655G>A	c.(655-657)Gcc>Acc	p.A219T	TRIM31_ENST00000540829.1_Missense_Mutation_p.A219T|TRIM31_ENST00000485864.1_5'UTR|TRIM31-AS1_ENST00000440874.1_RNA	NM_007028.3	NP_008959.3	Q9BZY9	TRI31_HUMAN	tripartite motif containing 31	219				ASTEPQLNDLKKLVDSLK -> EIPLMPTVERSQEARCYP (in Ref. 6; CAA69165). {ECO:0000305}.	innate immune response (GO:0045087)|negative regulation of viral entry into host cell (GO:0046597)|negative regulation of viral transcription (GO:0032897)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein ubiquitination (GO:0016567)|regulation of viral release from host cell (GO:1902186)	mitochondrion (GO:0005739)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|skin(2)	15						TCAGTGGAGGCAACATAGTGT	0.522																																						ENST00000376734.3																			0				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|skin(2)	15						c.(655-657)Gcc>Acc		tripartite motif containing 31							216	193	200					6																	30078314		2203	4300	6503	SO:0001583	missense	11074					mitochondrion	ligase activity|zinc ion binding	g.chr6:30078314C>T	AF230386	CCDS34374.1	6p21.3	2013-01-09	2011-01-25		ENSG00000204616	ENSG00000204616		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	16289	protein-coding gene	gene with protein product		609316	"tripartite motif-containing 31"			11331580	Standard	XM_006714977		Approved	RNF, HCGI, C6orf13, HCG1	uc003npg.1	Q9BZY9	OTTHUMG00000031064	ENST00000376734.3:c.655G>A	6.37:g.30078314C>T	ENSP00000365924:p.Ala219Thr					TRIM31_ENST00000540829.1_Missense_Mutation_p.A219T|TRIM31_ENST00000485864.1_5'UTR|TRIM31-AS1_ENST00000440874.1_RNA	p.A219T	NM_007028.3	NP_008959.3	Q9BZY9	TRI31_HUMAN			4	780	-			219	ASTEPQLNDLKKLVDSLK -> EIPLMPTVERSQEARCYP (in Ref. 6; CAA69165).				A6NLX6|A9R9Q4|Q53H52|Q5RI37|Q5SRJ7|Q5SRJ8|Q5SS28|Q96AK4|Q96AP8|Q99579|Q9BZY8	Missense_Mutation	SNP	ENST00000376734.3	37	c.655G>A	CCDS34374.1	.	.	.	.	.	.	.	.	.	.	C	0.360	-0.939804	0.02322	.	.	ENSG00000204616	ENST00000376734;ENST00000376728;ENST00000540829	T;T	0.67171	-0.25;-0.25	3.39	-6.79	0.01715	.	.	.	.	.	T	0.13200	0.0320	N	0.11201	0.11	0.09310	N	1	B	0.15141	0.012	B	0.15870	0.014	T	0.19031	-1.0318	9	0.05959	T	0.93	.	7.7691	0.28997	0.0:0.5129:0.2836:0.2035	.	219	Q9BZY9	TRI31_HUMAN	T	219	ENSP00000365924:A219T;ENSP00000444311:A219T	ENSP00000365918:A219T	A	-	1	0	TRIM31	30186293	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.610000	0.00885	-1.634000	0.01537	-1.436000	0.01078	GCC		0.522	TRIM31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076081.2			5	145	0	0	0	1	0	5	145					T	30078314	C	T	30078314	3	4	205	1	0	0	0	0	1	0	0	0	16502	710	25	3	646	3	TRIM31	6	30078314	Missense_Mutation	SNP	C	TCGA-HC-7213-01A-11D-2114-08	16381229	30078314	141036753	22	9431											
SFRS3	6428	broad.mit.edu	37	chr6	36566669	36566670	+	Frame_Shift_Ins	INS	-	-	A																															agtggaactgtcgaatggtgINSaaaaaagaagtagaaatcgt																										TCGA-HC-7213-01A-11D-2114-08	TCGA-HC-7213-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	423b7b92-135d-40ff-9db4-37afd44f6094	89d60af8-dd60-4b74-88f5-779f6e026865	g.chr6:36566669_36566670insA	ENST00000373715.6	+	3	366_367	c.250_251insA	c.(250-252)gaafs	p.E84fs	SRSF3_ENST00000339436.7_Frame_Shift_Ins_p.E84fs	NM_003017.4	NP_003008.1	P84103	SRSF3_HUMAN	serine/arginine-rich splicing factor 3	84	Sufficiernt for interaction with NXF1.				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|skin(2)	7						GTCGAATGGTGAAAAAAGAAGT	0.485																																						ENST00000373715.6																			0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|skin(2)	7						c.(250-252)aaafs		serine/arginine-rich splicing factor 3																																				SO:0001589	frameshift_variant	6428				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nucleoplasm	nucleotide binding|protein binding|RNA binding	g.chr6:36566669_36566670insA	L10838	CCDS4823.1	6p21	2013-02-12	2010-06-22	2010-06-22	ENSG00000112081	ENSG00000112081		"Serine/arginine-rich splicing factors", "RNA binding motif (RRM) containing"	10785	protein-coding gene	gene with protein product		603364	"splicing factor, arginine/serine-rich 3"	SFRS3		1577277, 20516191	Standard	NM_003017		Approved	SRp20	uc003omj.3	P84103	OTTHUMG00000014599	ENST00000373715.6:c.256dupA	6.37:g.36566675_36566675dupA	ENSP00000362820:p.Glu84fs					SRSF3_ENST00000339436.7_Frame_Shift_Ins_p.K84fs	p.K84fs	NM_003017.4	NP_003008.1	P84103	SRSF3_HUMAN			3	366_367	+			84					B4E241|O08831|P23152|Q5R3K0	Frame_Shift_Ins	INS	ENST00000373715.6	37	c.250_251insA	CCDS4823.1																																																																																				0.485	SRSF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040347.2	NM_003017		31	106						31	106	---	---	---	---	A	36566670	-	A	36566669	7	5	205	1	0	1	1	0	0	0	0	0	14178	1291	45	0	256	0	SFRS3	6	36566669	Frame_Shift_Ins	INS	-	TCGA-HC-7213-01A-11D-2114-08	6488355	36566669	134548398	23	9432											
COL12A1	1303	broad.mit.edu	37	chr6	75812377	75812377	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaggaccctgggggcctggaGgacctatgtctccacgagga	8	6	16	11	1	1	0	0	0	1	0	2	6	1	4	4	6	0	0	4	6	1	1			TCGA-HC-7213-01A-11D-2114-08	TCGA-HC-7213-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	423b7b92-135d-40ff-9db4-37afd44f6094	89d60af8-dd60-4b74-88f5-779f6e026865	g.chr6:75812377G>A	ENST00000322507.8	-	56	8660	c.8351C>T	c.(8350-8352)cCt>cTt	p.P2784L	COL12A1_ENST00000416123.2_Missense_Mutation_p.P2708L|COL12A1_ENST00000345356.6_Missense_Mutation_p.P1620L|COL12A1_ENST00000511023.1_5'Flank|COL12A1_ENST00000483888.2_Missense_Mutation_p.P2784L	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	2784	Collagen-like 1.|Triple-helical region (COL2) with 1 imperfection.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	collagen type XII trimer (GO:0005595)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|vesicle (GO:0031982)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)			breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						GGGGCCTGGAGGACCTATGTC	0.502																																						ENST00000322507.8																			0				breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						c.(8350-8352)cCt>cTt		collagen, type XII, alpha 1							52	52	52					6																	75812377		1829	4087	5916	SO:0001583	missense	1303				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength	g.chr6:75812377G>A	U73779	CCDS43481.1, CCDS43482.1	6q12-q13	2013-02-11	2003-07-24		ENSG00000111799	ENSG00000111799		"Proteoglycans / Extracellular Matrix : Collagen proteoglycans", "Collagens", "Fibronectin type III domain containing"	2188	protein-coding gene	gene with protein product	"collagen type XII proteoglycan"	120320	"collagen, type XII, alpha 1-like"	COL12A1L		9143499	Standard	XM_006715334		Approved		uc003phs.3	Q99715	OTTHUMG00000015051	ENST00000322507.8:c.8351C>T	6.37:g.75812377G>A	ENSP00000325146:p.Pro2784Leu					COL12A1_ENST00000345356.6_Missense_Mutation_p.P1620L|COL12A1_ENST00000483888.2_Missense_Mutation_p.P2784L|COL12A1_ENST00000416123.2_Missense_Mutation_p.P2708L	p.P2784L	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN			56	8660	-			2784			Triple-helical region (COL2) with 1 imperfection.		O43853|Q15955|Q5VYK1|Q5VYK2|Q71UR3|Q99716	Missense_Mutation	SNP	ENST00000322507.8	37	c.8351C>T	CCDS43482.1	.	.	.	.	.	.	.	.	.	.	G	12.98	2.101860	0.37048	.	.	ENSG00000111799	ENST00000322507;ENST00000425443;ENST00000432784;ENST00000345356;ENST00000416123;ENST00000483888	D;D;D;D;D	0.98684	-5.07;-5.07;-5.07;-5.07;-5.07	5.29	5.29	0.74685	.	0.154579	0.43747	D	0.000534	D	0.94755	0.8307	L	0.28054	0.825	0.80722	D	1	B;B	0.18310	0.027;0.015	B;B	0.23419	0.024;0.046	D	0.92217	0.5781	10	0.27785	T	0.31	.	17.1248	0.86711	0.0:0.0:1.0:0.0	.	1620;2784	Q99715-2;Q99715	.;COCA1_HUMAN	L	2784;422;2708;1620;2708;2784	ENSP00000325146:P2784L;ENSP00000399812:P422L;ENSP00000305147:P1620L;ENSP00000412864:P2708L;ENSP00000421216:P2784L	ENSP00000325146:P2784L	P	-	2	0	COL12A1	75869097	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	3.654000	0.54453	2.466000	0.83321	0.591000	0.81541	CCT		0.502	COL12A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041249.3	NM_004370		13	8	0	0	0	1	0	13	8					A	75812377	G	A	75812377	3	1	205	1	0	0	0	0	1	0	0	0	3669	1000	35	3	884	3	COL12A1	6	75812377	Missense_Mutation	SNP	G	TCGA-HC-7213-01A-11D-2114-08	39245708	75812377	95302690	24	9433											
MAS1	4142	broad.mit.edu	37	chr6	160328313	160328313	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctacacaattgtcacattatCagtgacttttctgtttggct	9	17	6	9	0	3	1	2	1	1	0	3	1	3	1	0	1	1	2	0	1	3	6			TCGA-HC-7213-01A-11D-2114-08	TCGA-HC-7213-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	423b7b92-135d-40ff-9db4-37afd44f6094	89d60af8-dd60-4b74-88f5-779f6e026865	g.chr6:160328313C>T	ENST00000252660.4	+	1	340	c.326C>T	c.(325-327)tCa>tTa	p.S109L		NM_002377.2	NP_002368.1	P04201	MAS_HUMAN	MAS1 proto-oncogene, G protein-coupled receptor	109					activation of NF-kappaB-inducing kinase activity (GO:0007250)|anatomical structure morphogenesis (GO:0009653)|cell proliferation (GO:0008283)|cellular response to peptide hormone stimulus (GO:0071375)|G-protein coupled receptor signaling pathway (GO:0007186)|hippocampus development (GO:0021766)|male gonad development (GO:0008584)|negative regulation of protein phosphorylation (GO:0001933)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|positive regulation of inositol phosphate biosynthetic process (GO:0060732)|protein kinase C signaling (GO:0070528)|regulation of inflammatory response (GO:0050727)|response to activity (GO:0014823)|response to drug (GO:0042493)|response to gonadotropin (GO:0034698)|spermatogenesis (GO:0007283)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	angiotensin receptor activity (GO:0001595)|angiotensin type II receptor activity (GO:0004945)|G-protein coupled receptor activity (GO:0004930)|peptide binding (GO:0042277)|peptide hormone binding (GO:0017046)			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	23		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.44e-18)|BRCA - Breast invasive adenocarcinoma(81;5.6e-06)		GTCACATTATCAGTGACTTTT	0.453																																						ENST00000252660.4																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	23						c.(325-327)tCa>tTa		MAS1 oncogene							173	165	168					6																	160328313		2203	4300	6503	SO:0001583	missense	4142				anatomical structure morphogenesis|cell proliferation|protein kinase C signaling cascade	integral to plasma membrane	angiotensin type II receptor activity	g.chr6:160328313C>T	M13150	CCDS5272.1	6q24-q27	2014-06-26	2014-06-26		ENSG00000130368	ENSG00000130368		"GPCR / Class A : Orphans"	6899	protein-coding gene	gene with protein product		165180	"MAS1 oncogene"				Standard	NM_002377		Approved		uc003qsz.3	P04201	OTTHUMG00000015944	ENST00000252660.4:c.326C>T	6.37:g.160328313C>T	ENSP00000252660:p.Ser109Leu						p.S109L	NM_002377.2	NP_002368.1	P04201	MAS_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.44e-18)|BRCA - Breast invasive adenocarcinoma(81;5.6e-06)	1	340	+		Breast(66;0.000776)|Ovarian(120;0.0303)	109					E1P5B3|Q2TBC9|Q6FG47	Missense_Mutation	SNP	ENST00000252660.4	37	c.326C>T	CCDS5272.1	.	.	.	.	.	.	.	.	.	.	C	7.441	0.640746	0.14386	.	.	ENSG00000130368	ENST00000252660	T	0.71698	-0.59	5.65	5.65	0.86999	GPCR, rhodopsin-like superfamily (1);	0.296299	0.24438	N	0.038525	T	0.29817	0.0745	N	0.10782	0.045	0.23607	N	0.997307	B	0.16396	0.017	B	0.22880	0.042	T	0.04178	-1.0971	10	0.10902	T	0.67	.	12.0855	0.53695	0.0:0.9216:0.0:0.0784	.	109	P04201	MAS_HUMAN	L	109	ENSP00000252660:S109L	ENSP00000252660:S109L	S	+	2	0	MAS1	160248303	0.809000	0.29036	0.003000	0.11579	0.478000	0.33099	2.413000	0.44618	2.665000	0.90641	0.655000	0.94253	TCA		0.453	MAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042930.2	NM_002377		34	88	0	0	0	1	0	34	88					T	160328313	C	T	160328313	3	4	205	1	0	0	0	0	1	0	0	0	9320	838	29	3	328	3	MAS1	6	160328313	Missense_Mutation	SNP	C	TCGA-HC-7213-01A-11D-2114-08	84515936	160328313	10786754	25	9434											
GIMAP8	155038	broad.mit.edu	37	chr7	150174547	150174547	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggagcagactttacgaaataCgcgattatgctgttcacccg	11	10	10	10	4	1	1	1	0	0	1	1	4	1	2	1	1	4	3	1	1	4	5			TCGA-HC-7213-01A-11D-2114-08	TCGA-HC-7213-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	423b7b92-135d-40ff-9db4-37afd44f6094	89d60af8-dd60-4b74-88f5-779f6e026865	g.chr7:150174547C>T	ENST00000307271.3	+	5	2251	c.1677C>T	c.(1675-1677)taC>taT	p.Y559Y		NM_175571.2	NP_783161.1	Q8ND71	GIMA8_HUMAN	GTPase, IMAP family member 8	559	AIG1-type G 3.					cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	GTP binding (GO:0005525)			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(26)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.17)		TTACGAAATACGCGATTATGC	0.473																																						ENST00000307271.3																			0				breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(26)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	62						c.(1675-1677)taC>taT		GTPase, IMAP family member 8							90	91	91					7																	150174547		2203	4300	6503	SO:0001819	synonymous_variant	155038					endoplasmic reticulum|Golgi apparatus|mitochondrion	GTP binding	g.chr7:150174547C>T	AL834361	CCDS34777.1	7q36.1	2014-04-04			ENSG00000171115	ENSG00000171115		"GTPases, IMAP"	21792	protein-coding gene	gene with protein product	"immune-associated nucleotide-binding protein 9"					15474311	Standard	XM_005249951		Approved	DKFZp667I133, hIAN6, IAN9	uc003whj.3	Q8ND71	OTTHUMG00000158327	ENST00000307271.3:c.1677C>T	7.37:g.150174547C>T							p.Y559Y	NM_175571.2	NP_783161.1	Q8ND71	GIMA8_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.17)	5	2251	+			559						Silent	SNP	ENST00000307271.3	37	c.1677C>T	CCDS34777.1																																																																																				0.473	GIMAP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350701.1	NM_175571		7	114	0	0	0	1	0	7	114					T	150174547	C	T	150174547	2	4	205	1	0	0	0	0	0	0	0	1	6385	547	19	1		1	GIMAP8	7	150174547	Silent	SNP	C	TCGA-HC-7213-01A-11D-2114-08		150174547	8964116	26	9435											
FBXO43	286151	broad.mit.edu	37	chr8	101154018	101154018	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aagatacattcaaccttctgCgaggtaaacattttttccca	13	13	5	10	1	2	1	1	0	1	1	3	2	3	1	2	1	4	1	2	1	5	7			TCGA-HC-7213-01A-11D-2114-08	TCGA-HC-7213-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	423b7b92-135d-40ff-9db4-37afd44f6094	89d60af8-dd60-4b74-88f5-779f6e026865	g.chr8:101154018C>T	ENST00000428847.2	-	2	780	c.464G>A	c.(463-465)cGc>cAc	p.R155H		NM_001029860.3	NP_001025031.2	Q4G163	FBX43_HUMAN	F-box protein 43	155					meiotic nuclear division (GO:0007126)|negative regulation of meiosis (GO:0045835)|negative regulation of protein catabolic process (GO:0042177)|protein ubiquitination (GO:0016567)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)			endometrium(1)|kidney(4)|large_intestine(5)|lung(14)|prostate(1)|skin(5)|urinary_tract(1)	31	all_cancers(14;0.000139)|all_epithelial(15;2.84e-07)|Lung NSC(17;0.000274)|all_lung(17;0.000798)		Epithelial(11;1.17e-09)|all cancers(13;1.34e-07)|OV - Ovarian serous cystadenocarcinoma(57;3.82e-05)|STAD - Stomach adenocarcinoma(118;0.0957)			CAACCTTCTGCGAGGTAAACA	0.343																																						ENST00000428847.2																			0				endometrium(1)|kidney(4)|large_intestine(5)|lung(14)|prostate(1)|skin(5)|urinary_tract(1)	31						c.(463-465)cGc>cAc		F-box protein 43							108	100	103					8																	101154018		1809	4075	5884	SO:0001583	missense	286151				meiosis		zinc ion binding	g.chr8:101154018C>T	BC028709	CCDS47904.1	8q22.3	2004-08-24			ENSG00000156509	ENSG00000156509		"F-boxes /  "other""	28521	protein-coding gene	gene with protein product		609110					Standard	NR_036491		Approved	Fbx43	uc003yjd.3	Q4G163	OTTHUMG00000164803	ENST00000428847.2:c.464G>A	8.37:g.101154018C>T	ENSP00000403293:p.Arg155His						p.R155H	NM_001029860.3	NP_001025031.2	Q4G163	FBX43_HUMAN	Epithelial(11;1.17e-09)|all cancers(13;1.34e-07)|OV - Ovarian serous cystadenocarcinoma(57;3.82e-05)|STAD - Stomach adenocarcinoma(118;0.0957)		2	780	-	all_cancers(14;0.000139)|all_epithelial(15;2.84e-07)|Lung NSC(17;0.000274)|all_lung(17;0.000798)		155						Missense_Mutation	SNP	ENST00000428847.2	37	c.464G>A	CCDS47904.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.085627	0.76642	.	.	ENSG00000156509	ENST00000428847	T	0.62788	-0.0	5.44	4.56	0.56223	.	0.158312	0.56097	D	0.000026	T	0.76190	0.3953	M	0.68593	2.085	0.53688	D	0.999974	D;D	0.89917	1.0;1.0	D;D	0.63957	0.92;0.92	T	0.80061	-0.1540	10	0.87932	D	0	-3.7206	16.6881	0.85315	0.0:0.8705:0.1295:0.0	.	121;155	C9J908;Q4G163	.;FBX43_HUMAN	H	155	ENSP00000403293:R155H	ENSP00000403293:R155H	R	-	2	0	FBXO43	101223194	0.986000	0.35501	0.591000	0.28745	0.044000	0.14063	3.731000	0.55013	1.404000	0.46819	0.563000	0.77884	CGC		0.343	FBXO43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380380.1	XM_209918		47	70	0	0	0	1	0	47	70					T	101154018	C	T	101154018	3	4	205	1	0	0	0	0	1	0	0	0	5752	768	27	1	1678	1	FBXO43	8	101154018	Missense_Mutation	SNP	C	TCGA-HC-7213-01A-11D-2114-08		101154018	45210004	27	9436											
METTL11A	28989	broad.mit.edu	37	chr9	132397600	132397600	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cccaggagggcgtgattctgGacgacgtggacagcagcgtg	8	6	17	10	4	1	1	0	1	1	0	1	5	1	4	1	4	2	1	1	4	0	1			TCGA-HC-7213-01A-11D-2114-08	TCGA-HC-7213-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	423b7b92-135d-40ff-9db4-37afd44f6094	89d60af8-dd60-4b74-88f5-779f6e026865	g.chr9:132397600G>T	ENST00000372486.1	+	4	878	c.529G>T	c.(529-531)Gac>Tac	p.D177Y	NTMT1_ENST00000372481.3_3'UTR|NTMT1_ENST00000372480.1_Missense_Mutation_p.D177Y|NTMT1_ENST00000372483.4_Missense_Mutation_p.D177Y|NTMT1_ENST00000482347.1_Missense_Mutation_p.D89Y			Q9BV86	NTM1A_HUMAN	N-terminal Xaa-Pro-Lys N-methyltransferase 1	177					chromosome segregation (GO:0007059)|N-terminal peptidyl-proline dimethylation (GO:0018016)|N-terminal peptidyl-serine dimethylation (GO:0035572)|N-terminal peptidyl-serine trimethylation (GO:0035573)|spindle organization (GO:0007051)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein methyltransferase activity (GO:0008276)										CGTGATTCTGGACGACGTGGA	0.642																																						ENST00000372486.1																			0											c.(529-531)Gac>Tac		N-terminal Xaa-Pro-Lys N-methyltransferase 1							126	104	112					9																	132397600		2203	4300	6503	SO:0001583	missense	28989							g.chr9:132397600G>T	AF110776	CCDS35160.1, CCDS69682.1, CCDS75918.1	9q34.2	2012-11-05	2012-06-12	2012-06-12	ENSG00000148335	ENSG00000148335	2.1.1.n5		23373	protein-coding gene	gene with protein product		613560	"chromosome 9 open reading frame 32", "methyltransferase like 11A"	C9orf32, METTL11A		20481588	Standard	XM_005251939		Approved	AD-003, HOMT1A	uc004byd.1	Q9BV86	OTTHUMG00000020785	ENST00000372486.1:c.529G>T	9.37:g.132397600G>T	ENSP00000361564:p.Asp177Tyr					NTMT1_ENST00000372483.4_Missense_Mutation_p.D177Y|NTMT1_ENST00000482347.1_Missense_Mutation_p.D89Y|NTMT1_ENST00000372481.3_3'UTR|NTMT1_ENST00000372480.1_Missense_Mutation_p.D177Y	p.D177Y							4	878	+								A8K4J2|A8K8G7|Q5SZB9|Q9UI28	Missense_Mutation	SNP	ENST00000372486.1	37	c.529G>T	CCDS35160.1	.	.	.	.	.	.	.	.	.	.	G	26.1	4.705371	0.89018	.	.	ENSG00000148335	ENST00000372486;ENST00000372483;ENST00000372480	T;T;T	0.42513	0.97;0.97;0.97	5.01	5.01	0.66863	.	0.000000	0.85682	D	0.000000	T	0.75228	0.3821	H	0.95780	3.72	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.83890	0.0284	10	0.87932	D	0	-34.6651	16.8907	0.86086	0.0:0.0:1.0:0.0	.	177	Q9BV86	NTM1A_HUMAN	Y	177	ENSP00000361564:D177Y;ENSP00000361561:D177Y;ENSP00000361558:D177Y	ENSP00000361558:D177Y	D	+	1	0	METTL11A	131437421	1.000000	0.71417	0.999000	0.59377	0.959000	0.62525	9.406000	0.97321	2.325000	0.78763	0.549000	0.68633	GAC		0.642	NTMT1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054589.1	NM_014064		40	78	1	0	7.88023e-25	1	9.59955e-25	40	78					T	132397600	G	T	132397600	3	4	205	1	0	0	0	0	1	0	0	0	9495	1174	41	5	539	5	METTL11A	9	132397600	Missense_Mutation	SNP	G	TCGA-HC-7213-01A-11D-2114-08		132397600	8815831	28	9437											
PTCHD3	374308	broad.mit.edu	37	chr10	27692213	27692213	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgcaacagcaggccaaagcCgctcaccactgccaagaaag	14	3	10	14	1	1	1	1	0	0	1	1	1	1	1	4	1	5	3	4	1	4	0	rs377105186	byFrequency	TCGA-HC-7213-01A-11D-2114-08	TCGA-HC-7213-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	423b7b92-135d-40ff-9db4-37afd44f6094	89d60af8-dd60-4b74-88f5-779f6e026865	g.chr10:27692213C>T	ENST00000438700.3	-	3	1402	c.1285G>A	c.(1285-1287)Ggc>Agc	p.G429S		NM_001034842.3	NP_001030014.2	Q3KNS1	PTHD3_HUMAN	patched domain containing 3	429	SSD. {ECO:0000255|PROSITE- ProRule:PRU00199}.				spermatid development (GO:0007286)	integral component of membrane (GO:0016021)|sperm midpiece (GO:0097225)	hedgehog receptor activity (GO:0008158)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	55						AGGCCAAAGCCGCTCACCACT	0.453													C|||	4	0.000798722	0	0	5008	,	,		15675	0.001		0	False		,,,				2504	0.0031					ENST00000438700.3																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	55						c.(1285-1287)Ggc>Agc		patched domain containing 3		C	SER/GLY	2,4404	4.2+/-10.8	0,2,2201	133	124	127		1285	-1.2	0.6	10		127	0,8600		0,0,4300	no	missense	PTCHD3	NM_001034842.3	56	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	benign	429/768	27692213	2,13004	2203	4300	6503	SO:0001583	missense	374308				spermatid development	integral to membrane	hedgehog receptor activity	g.chr10:27692213C>T	AK126025	CCDS31173.1	10p12.1	2006-05-26			ENSG00000182077	ENSG00000182077			24776	protein-coding gene	gene with protein product		611791					Standard	NM_001034842		Approved	FLJ44037, PTR	uc001itu.2	Q3KNS1	OTTHUMG00000017860	ENST00000438700.3:c.1285G>A	10.37:g.27692213C>T	ENSP00000417658:p.Gly429Ser						p.G429S	NM_001034842.3	NP_001030014.2	Q3KNS1	PTHD3_HUMAN			3	1402	-			429			SSD.		I3L499|Q6ZU28	Missense_Mutation	SNP	ENST00000438700.3	37	c.1285G>A	CCDS31173.1	.	.	.	.	.	.	.	.	.	.	C	3.161	-0.172111	0.06421	4.54E-4	0.0	ENSG00000182077	ENST00000438700	D	0.83992	-1.79	4.09	-1.22	0.09494	Sterol-sensing domain (1);	0.489441	0.23807	N	0.044374	T	0.61602	0.2360	N	0.21583	0.68	0.25705	N	0.985544	P	0.35923	0.528	B	0.31495	0.131	T	0.59984	-0.7351	10	0.02654	T	1	-10.0096	9.9416	0.41583	0.0:0.2978:0.0:0.7022	.	429	Q3KNS1	PTHD3_HUMAN	S	429	ENSP00000417658:G429S	ENSP00000417658:G429S	G	-	1	0	PTCHD3	27732219	0.028000	0.19301	0.587000	0.28692	0.973000	0.67179	-0.088000	0.11198	-0.161000	0.10983	0.561000	0.74099	GGC		0.453	PTCHD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047325.3	XM_370541		8	95	0	0	0	1	0	8	95					T	27692213	C	T	27692213	3	4	205	1	0	0	0	0	1	0	0	0	12734	652	23	2	1026	2	PTCHD3	10	27692213	Missense_Mutation	SNP	C	TCGA-HC-7213-01A-11D-2114-08		27692213	107842534	29	9438											
SORCS3	22986	broad.mit.edu	37	chr10	106976777	106976777	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacttcagccccatcgaggaCggcatcaagcacgtgtataa	13	7	9	12	3	2	0	2	0	0	0	3	2	2	1	2	2	3	3	2	2	4	3	rs143982937		TCGA-HC-7213-01A-11D-2114-08	TCGA-HC-7213-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	423b7b92-135d-40ff-9db4-37afd44f6094	89d60af8-dd60-4b74-88f5-779f6e026865	g.chr10:106976777C>T	ENST00000369701.3	+	19	2858	c.2631C>T	c.(2629-2631)gaC>gaT	p.D877D	SORCS3_ENST00000369699.4_Silent_p.D163D	NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	877	PKD. {ECO:0000255|PROSITE- ProRule:PRU00151}.				learning (GO:0007612)|memory (GO:0007613)|neuropeptide signaling pathway (GO:0007218)|regulation of long term synaptic depression (GO:1900452)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|neuronal postsynaptic density (GO:0097481)	neuropeptide receptor activity (GO:0008188)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		CCATCGAGGACGGCATCAAGC	0.527													C|||	1	0.000199681	0	0	5008	,	,		20769	0.001		0	False		,,,				2504	0				NSCLC(116;1497 1690 7108 13108 14106)	ENST00000369701.3																			0				autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131						c.(2629-2631)gaC>gaT		sortilin-related VPS10 domain containing receptor 3		C		2,4404	4.2+/-10.8	0,2,2201	178	135	149		2631	-11.6	0.2	10	dbSNP_134	149	0,8600		0,0,4300	no	coding-synonymous	SORCS3	NM_014978.1		0,2,6501	TT,TC,CC		0.0,0.0454,0.0154		877/1223	106976777	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	22986					integral to membrane	neuropeptide receptor activity	g.chr10:106976777C>T	AB028982	CCDS7558.1	10q23-q25	2006-04-12			ENSG00000156395	ENSG00000156395			16699	protein-coding gene	gene with protein product		606285				11499680	Standard	NM_014978		Approved	KIAA1059, SORCS	uc001kyi.1	Q9UPU3	OTTHUMG00000019011	ENST00000369701.3:c.2631C>T	10.37:g.106976777C>T						SORCS3_ENST00000369699.4_Silent_p.D163D	p.D877D	NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)	19	2858	+		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)	877			PKD.		Q5VXF9|Q9NQJ2	Silent	SNP	ENST00000369701.3	37	c.2631C>T	CCDS7558.1																																																																																				0.527	SORCS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050221.1	NM_014978		9	71	0	0	0	1	0	9	71					T	106976777	C	T	106976777	2	4	205	1	0	0	0	0	0	0	0	1	14932	535	19	1		1	SORCS3	10	106976777	Silent	SNP	C	TCGA-HC-7213-01A-11D-2114-08	79284564	106976777	28557970	30	9439											
MKI67	4288	broad.mit.edu	37	chr10	129899951	129899951	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcttattttggcgtctggaGcgcagggatattccctaaag	8	13	12	8	2	2	0	0	0	2	0	3	2	3	2	1	3	1	1	1	3	4	6			TCGA-HC-7213-01A-11D-2114-08	TCGA-HC-7213-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	423b7b92-135d-40ff-9db4-37afd44f6094	89d60af8-dd60-4b74-88f5-779f6e026865	g.chr10:129899951G>A	ENST00000368654.3	-	14	9651	c.9276C>T	c.(9274-9276)cgC>cgT	p.R3092R	MKI67_ENST00000368653.3_Silent_p.R2732R	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	3092					cell proliferation (GO:0008283)|cellular response to heat (GO:0034605)|DNA metabolic process (GO:0006259)|hyaluronan metabolic process (GO:0030212)|meiotic nuclear division (GO:0007126)|organ regeneration (GO:0031100)|response to organic cyclic compound (GO:0014070)	chromosome, centromeric region (GO:0000775)|condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				GGCGTCTGGAGCGCAGGGATA	0.363																																						ENST00000368654.3																			0				NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159						c.(9274-9276)cgC>cgT		marker of proliferation Ki-67							53	55	54					10																	129899951		2169	4282	6451	SO:0001819	synonymous_variant	4288				cell proliferation	nucleolus	ATP binding|protein C-terminus binding	g.chr10:129899951G>A	X65550	CCDS7659.1, CCDS53588.1	10q26.2	2014-06-12	2013-10-10		ENSG00000148773	ENSG00000148773			7107	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 105"	176741	"antigen identified by monoclonal antibody Ki-67"			2571566, 16206250	Standard	NM_002417		Approved	MIB-, PPP1R105	uc001lke.3	P46013	OTTHUMG00000019255	ENST00000368654.3:c.9276C>T	10.37:g.129899951G>A						MKI67_ENST00000368653.3_Silent_p.R2732R	p.R3092R	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN			14	9651	-		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)	3092					Q5VWH2	Silent	SNP	ENST00000368654.3	37	c.9276C>T	CCDS7659.1																																																																																				0.363	MKI67-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050999.1	NM_002417		3	30	0	0	0	1	0	3	30					A	129899951	G	A	129899951	2	1	205	1	0	0	0	0	0	0	0	1	9598	958	34	3		3	MKI67	10	129899951	Silent	SNP	G	TCGA-HC-7213-01A-11D-2114-08	22923174	129899951	5634796	31	9440											
OR56A1	120796	broad.mit.edu	37	chr11	6048456	6048456	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaatgggtgcagtaagaagcGcattccgcaccacaatgaag	14	6	12	9	2	0	2	0	1	0	1	1	3	1	2	2	1	2	4	2	1	5	2	rs145606510	byFrequency	TCGA-HC-7213-01A-11D-2114-08	TCGA-HC-7213-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	423b7b92-135d-40ff-9db4-37afd44f6094	89d60af8-dd60-4b74-88f5-779f6e026865	g.chr11:6048456G>A	ENST00000316650.5	-	1	515	c.479C>T	c.(478-480)gCg>gTg	p.A160V		NM_001001917.2	NP_001001917.2	Q8NGH5	O56A1_HUMAN	olfactory receptor, family 56, subfamily A, member 1	160						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(22)|ovary(2)	33		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGTAAGAAGCGCATTCCGCAC	0.493																																						ENST00000316650.5																			0				breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(22)|ovary(2)	33						c.(478-480)gCg>gTg		olfactory receptor, family 56, subfamily A, member 1		G	VAL/ALA	1,4401	2.1+/-5.4	0,1,2200	150	130	137		479	1.4	0	11	dbSNP_134	137	1,8591	1.2+/-3.3	0,1,4295	no	missense	OR56A1	NM_001001917.2	64	0,2,6495	AA,AG,GG		0.0116,0.0227,0.0154	benign	160/319	6048456	2,12992	2201	4296	6497	SO:0001583	missense	120796				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:6048456G>A	AB065821	CCDS31405.1	11p15.4	2012-08-09			ENSG00000180934	ENSG00000180934		"GPCR / Class A : Olfactory receptors"	14781	protein-coding gene	gene with protein product							Standard	NM_001001917		Approved		uc010qzw.2	Q8NGH5	OTTHUMG00000165377	ENST00000316650.5:c.479C>T	11.37:g.6048456G>A	ENSP00000321246:p.Ala160Val						p.A160V	NM_001001917.2	NP_001001917.2	Q8NGH5	O56A1_HUMAN		Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	515	-		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)	160					B2RNI2|Q6IFL0	Missense_Mutation	SNP	ENST00000316650.5	37	c.479C>T	CCDS31405.1	.	.	.	.	.	.	.	.	.	.	G	0.004	-2.287434	0.00248	2.27E-4	1.16E-4	ENSG00000180934	ENST00000316650	T	0.36157	1.27	4.27	1.35	0.21983	GPCR, rhodopsin-like superfamily (1);	0.372941	0.19397	N	0.115261	T	0.13927	0.0337	N	0.05330	-0.07	0.09310	N	1	B	0.10296	0.003	B	0.15870	0.014	T	0.33904	-0.9850	10	0.02654	T	1	.	7.9017	0.29738	0.36:0.0:0.64:0.0	.	160	Q8NGH5	O56A1_HUMAN	V	160	ENSP00000321246:A160V	ENSP00000321246:A160V	A	-	2	0	OR56A1	6005032	0.000000	0.05858	0.001000	0.08648	0.000000	0.00434	-0.166000	0.09954	0.186000	0.20125	-0.140000	0.14226	GCG		0.493	OR56A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383757.1	NM_001001917		8	124	0	0	0	1	0	8	124					A	6048456	G	A	6048456	3	1	205	1	0	0	0	0	1	0	0	0	11133	1087	38	1	481	1	OR56A1	11	6048456	Missense_Mutation	SNP	G	TCGA-HC-7213-01A-11D-2114-08		6048456	128958060	32	9441											
FIBP	9158	broad.mit.edu	37	chr11	65652991	65652991	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tccaggcacctgggtcagtgGgggcctcaccgacggctcca	6	6	14	15	2	2	0	2	0	0	0	4	1	4	0	5	5	0	2	5	5	0	0			TCGA-HC-7213-01A-11D-2114-08	TCGA-HC-7213-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	423b7b92-135d-40ff-9db4-37afd44f6094	89d60af8-dd60-4b74-88f5-779f6e026865	g.chr11:65652991G>A	ENST00000338369.2	-	5	768	c.656C>T	c.(655-657)cCc>cTc	p.P219L	FIBP_ENST00000533045.1_Intron|FIBP_ENST00000357519.4_Intron|FIBP_ENST00000426652.2_5'Flank	NM_198897.1	NP_942600.1	O43427	FIBP_HUMAN	fibroblast growth factor (acidic) intracellular binding protein	219					fibroblast growth factor receptor signaling pathway (GO:0008543)|platelet aggregation (GO:0070527)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	fibroblast growth factor binding (GO:0017134)			endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1)	10				READ - Rectum adenocarcinoma(159;0.166)		TGGGTCAGTGGGGGCCTCACC	0.582											OREG0021089	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000338369.2																			0				endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1)	10						c.(655-657)cCc>cTc		fibroblast growth factor (acidic) intracellular binding protein							99	105	103					11																	65652991		2201	4296	6497	SO:0001583	missense	9158				fibroblast growth factor receptor signaling pathway	endomembrane system|membrane|microsome|mitochondrion|nucleus	fibroblast growth factor binding	g.chr11:65652991G>A	AF010187	CCDS8118.1, CCDS8119.1	11q13.1	2006-06-15			ENSG00000172500	ENSG00000172500			3705	protein-coding gene	gene with protein product		608296				9806903	Standard	NM_004214		Approved	FGFIBP	uc001ogd.3	O43427	OTTHUMG00000166846	ENST00000338369.2:c.656C>T	11.37:g.65652991G>A	ENSP00000344572:p.Pro219Leu		OREG0021089	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1085	FIBP_ENST00000357519.4_Intron|FIBP_ENST00000533045.1_Intron	p.P219L	NM_198897.1	NP_942600.1	O43427	FIBP_HUMAN		READ - Rectum adenocarcinoma(159;0.166)	5	768	-			219					A8K0J7|Q27Q85|Q6IBQ3|Q9HD65	Missense_Mutation	SNP	ENST00000338369.2	37	c.656C>T	CCDS8119.1	.	.	.	.	.	.	.	.	.	.	G	14.64	2.596553	0.46318	.	.	ENSG00000172500	ENST00000338369	T	0.21191	2.02	4.9	4.9	0.64082	.	0.403365	0.23289	N	0.049802	T	0.13114	0.0318	N	0.08118	0	0.80722	D	1	B	0.20671	0.047	B	0.26094	0.066	T	0.09422	-1.0675	10	0.54805	T	0.06	-18.0363	13.445	0.61136	0.0:0.0:1.0:0.0	.	219	O43427	FIBP_HUMAN	L	219	ENSP00000344572:P219L	ENSP00000344572:P219L	P	-	2	0	FIBP	65409567	1.000000	0.71417	0.983000	0.44433	0.824000	0.46624	2.349000	0.44054	2.543000	0.85770	0.462000	0.41574	CCC		0.582	FIBP-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000391575.2	NM_198897		10	130	0	0	0	1	0	10	130					A	65652991	G	A	65652991	3	1	205	1	0	0	0	0	1	0	0	0	5886	1232	43	3	462	3	FIBP	11	65652991	Missense_Mutation	SNP	G	TCGA-HC-7213-01A-11D-2114-08	59604535	65652991	69353525	33	9442											
CARD18	59082	broad.mit.edu	37	chr11	105009575	105009575	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttgaggcaagttgagggtCttcttcacagagatgcttga	9	13	12	7	0	3	4	1	3	2	1	3	5	3	4	0	2	1	3	0	2	1	5			TCGA-HC-7213-01A-11D-2114-08	TCGA-HC-7213-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	423b7b92-135d-40ff-9db4-37afd44f6094	89d60af8-dd60-4b74-88f5-779f6e026865	g.chr11:105009575C>A	ENST00000530950.1	-	2	237	c.238G>T	c.(238-240)Gac>Tac	p.D80Y	CARD18_ENST00000532895.1_Missense_Mutation_p.D41Y|CARD18_ENST00000526823.1_Missense_Mutation_p.D41Y	NM_021571.3	NP_067546.1	P57730	CAR18_HUMAN	caspase recruitment domain family, member 18	80	CARD. {ECO:0000255|PROSITE- ProRule:PRU00046}.				inflammatory response (GO:0006954)|regulation of apoptotic process (GO:0042981)		cysteine-type endopeptidase inhibitor activity (GO:0004869)			central_nervous_system(1)|ovary(1)	2						AGTTGAGGGTCTTCTTCACAG	0.408																																						ENST00000530950.1																			0				central_nervous_system(1)|ovary(1)	2						c.(238-240)Gac>Tac		caspase recruitment domain family, member 18							240	222	228					11																	105009575		1908	4119	6027	SO:0001583	missense	59082				inflammatory response|regulation of apoptosis	intracellular	cysteine-type endopeptidase inhibitor activity	g.chr11:105009575C>A	AY358231	CCDS53705.1	11q22.3	2008-09-02				ENSG00000255501			28861	protein-coding gene	gene with protein product		605354				11051551	Standard	NM_021571		Approved	UNQ5804, ICEBERG, pseudo-ICE	uc021qpy.1	P57730		ENST00000530950.1:c.238G>T	11.37:g.105009575C>A	ENSP00000436691:p.Asp80Tyr					CARD18_ENST00000532895.1_Missense_Mutation_p.D41Y|CARD18_ENST00000526823.1_Missense_Mutation_p.D41Y	p.D80Y	NM_021571.3	NP_067546.1	P57730	CAR18_HUMAN			2	237	-			80			CARD.		A2RRF8	Missense_Mutation	SNP	ENST00000530950.1	37	c.238G>T	CCDS53705.1	.	.	.	.	.	.	.	.	.	.	.	12.41	1.929481	0.34096	.	.	ENSG00000255501	ENST00000530950;ENST00000526823;ENST00000532895	T;T;T	0.22945	1.93;1.93;1.93	2.3	2.3	0.28687	DEATH-like (2);Caspase Recruitment (3);	0.385269	0.28635	N	0.014650	T	0.43634	0.1256	.	.	.	0.09310	N	1	D	0.89917	1.0	D	0.87578	0.998	T	0.06917	-1.0800	9	0.87932	D	0	.	8.1859	0.31339	0.0:1.0:0.0:0.0	.	80	P57730	CAR18_HUMAN	Y	80;41;41	ENSP00000436691:D80Y;ENSP00000437035:D41Y;ENSP00000437187:D41Y	ENSP00000437035:D41Y	D	-	1	0	CARD18	104514785	0.083000	0.21467	0.052000	0.19188	0.046000	0.14306	1.476000	0.35420	1.572000	0.49736	0.558000	0.71614	GAC		0.408	CARD18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388183.2	NM_021571		24	179	1	0	1.32003e-05	1	1.49902e-05	24	179					A	105009575	C	A	105009575	3	1	205	1	0	0	0	0	1	0	0	0	2649	913	32	5	38	5	CARD18	11	105009575	Missense_Mutation	SNP	C	TCGA-HC-7213-01A-11D-2114-08	39356584	105009575	29996941	34	9443											
EI24	9538	broad.mit.edu	37	chr11	125450015	125450015	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tttgtgagtctctttcccatCcatcttgtcggtcagctggt	4	17	9	11	1	3	1	1	1	2	0	7	1	5	1	2	2	1	1	2	2	0	3			TCGA-HC-7213-01A-11D-2114-08	TCGA-HC-7213-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	423b7b92-135d-40ff-9db4-37afd44f6094	89d60af8-dd60-4b74-88f5-779f6e026865	g.chr11:125450015C>A	ENST00000278903.6	+	8	830	c.588C>A	c.(586-588)atC>atA	p.I196I	EI24_ENST00000343678.4_Silent_p.I196I|STT3A-AS1_ENST00000530526.1_RNA|EI24_ENST00000530985.1_3'UTR|STT3A-AS1_ENST00000532714.1_RNA	NM_004879.3	NP_004870.3	O14681	EI24_HUMAN	etoposide induced 2.4	196			I -> D (in some patients with early onset breast cancer; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:11753653}.		apoptotic process (GO:0006915)|autophagy (GO:0006914)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of cell growth (GO:0030308)|neuromuscular process controlling balance (GO:0050885)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|response to drug (GO:0042493)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)				large_intestine(1)|lung(9)|ovary(1)	11	all_hematologic(175;0.228)	Breast(109;0.0021)|Lung NSC(97;0.0126)|all_lung(97;0.0132)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.64e-07)|OV - Ovarian serous cystadenocarcinoma(99;0.0975)		TCTTTCCCATCCATCTTGTCG	0.423																																						ENST00000278903.6																			0				large_intestine(1)|lung(9)|ovary(1)	11						c.(586-588)atC>atA		etoposide induced 2.4							368	342	350					11																	125450015		1913	4129	6042	SO:0001819	synonymous_variant	9538				apoptosis|autophagy|induction of apoptosis|negative regulation of cell growth	endoplasmic reticulum membrane|integral to membrane|nuclear membrane		g.chr11:125450015C>A	AF010313	CCDS73410.1	11q24.2	2012-11-19	2012-11-16		ENSG00000149547	ENSG00000149547			13276	protein-coding gene	gene with protein product	"ectopic P-granules autophagy protein 4 homolog (C. elegans)"	605170	"etoposide induced 2.4 mRNA"			10594026, 9305847	Standard	NM_001290135		Approved	PIG8, TP53I8, EPG4	uc001qcb.3	O14681	OTTHUMG00000165851	ENST00000278903.6:c.588C>A	11.37:g.125450015C>A						EI24_ENST00000343678.4_Silent_p.I196I|STT3A-AS1_ENST00000530526.1_RNA|EI24_ENST00000530985.1_3'UTR|STT3A-AS1_ENST00000532714.1_RNA	p.I196I	NM_004879.3	NP_004870.3	O14681	EI24_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.64e-07)|OV - Ovarian serous cystadenocarcinoma(99;0.0975)	8	830	+	all_hematologic(175;0.228)	Breast(109;0.0021)|Lung NSC(97;0.0126)|all_lung(97;0.0132)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	196		I -> D (in some patients with early onset breast cancer; requires 2 nucleotide substitutions).			A8K7D6|B4DKL6|Q9BUQ1	Silent	SNP	ENST00000278903.6	37	c.588C>A																																																																																					0.423	EI24-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_004879		104	179	1	0	4.07704e-43	1	5.15399e-43	104	179					A	125450015	C	A	125450015	2	1	205	1	0	0	0	0	0	0	0	1	4985	845	30	5		5	EI24	11	125450015	Silent	SNP	C	TCGA-HC-7213-01A-11D-2114-08	20440440	125450015	9556501	35	9444											
NTM	50863	broad.mit.edu	37	chr11	132177694	132177694	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgtggccgcgcccgtggtacGgagagtaaaggtcaccgtga	8	6	16	11	6	1	2	1	1	0	1	1	3	1	2	3	4	1	2	3	4	3	2	rs541916621		TCGA-HC-7213-01A-11D-2114-08	TCGA-HC-7213-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	423b7b92-135d-40ff-9db4-37afd44f6094	89d60af8-dd60-4b74-88f5-779f6e026865	g.chr11:132177694G>A	ENST00000374786.1	+	4	1117	c.638G>A	c.(637-639)cGg>cAg	p.R213Q	NTM_ENST00000374784.1_Missense_Mutation_p.R213Q|NTM_ENST00000427481.2_Missense_Mutation_p.R204Q|NTM_ENST00000374791.3_Missense_Mutation_p.R213Q|NTM_ENST00000474900.1_3'UTR|NTM_ENST00000425719.2_Missense_Mutation_p.R213Q|NTM_ENST00000539799.1_Missense_Mutation_p.R213Q	NM_001144058.1|NM_016522.2	NP_001137530.1|NP_057606.1	Q9P121	NTRI_HUMAN	neurotrimin	213	Ig-like C2-type 2.				cell adhesion (GO:0007155)|neuron recognition (GO:0008038)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(9)|lung(30)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	56						CCCGTGGTACGGAGAGTAAAG	0.582													G|||	1	0.000199681	0	0	5008	,	,		17667	0		0	False		,,,				2504	0.001					ENST00000374786.1																			0				breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(9)|lung(30)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	56						c.(637-639)cGg>cAg		neurotrimin							81	71	74					11																	132177694		2201	4297	6498	SO:0001583	missense	50863				cell adhesion|neuron recognition	anchored to membrane|plasma membrane		g.chr11:132177694G>A	AF126426	CCDS8491.1, CCDS41733.1, CCDS44777.1, CCDS44778.1	11q25	2013-01-11			ENSG00000182667	ENSG00000182667		"Immunoglobulin superfamily / I-set domain containing"	17941	protein-coding gene	gene with protein product	"neurotrimin", "IgLON family member 2"	607938				7891157	Standard	NM_001048209		Approved	HNT, NTRI, IGLON2	uc001qgq.3	Q9P121	OTTHUMG00000066364	ENST00000374786.1:c.638G>A	11.37:g.132177694G>A	ENSP00000363918:p.Arg213Gln					NTM_ENST00000374791.3_Missense_Mutation_p.R213Q|NTM_ENST00000539799.1_Missense_Mutation_p.R213Q|NTM_ENST00000374784.1_Missense_Mutation_p.R213Q|NTM_ENST00000425719.2_Missense_Mutation_p.R213Q|NTM_ENST00000427481.2_Missense_Mutation_p.R204Q|NTM_ENST00000474900.1_3'UTR	p.R213Q	NM_001144058.1|NM_016522.2	NP_001137530.1|NP_057606.1	Q9P121	NTRI_HUMAN			4	1117	+			213			Ig-like C2-type 2.		A0MTT2|Q6UXJ3|Q86VJ9	Missense_Mutation	SNP	ENST00000374786.1	37	c.638G>A	CCDS8491.1	.	.	.	.	.	.	.	.	.	.	G	15.82	2.946298	0.53079	.	.	ENSG00000182667	ENST00000374791;ENST00000539799;ENST00000427481;ENST00000374786;ENST00000425719;ENST00000374784	T;T;T;T;T;T	0.66638	-0.22;-0.22;-0.22;-0.22;-0.22;-0.22	5.78	5.78	0.91487	Immunoglobulin I-set (1);Immunoglobulin-like (1);	0.046634	0.85682	D	0.000000	T	0.62417	0.2426	L	0.44542	1.39	0.47698	D	0.999498	P;P;P;P;P;P	0.52692	0.807;0.807;0.955;0.693;0.503;0.77	B;B;P;B;B;B	0.44772	0.358;0.272;0.46;0.202;0.18;0.18	T	0.63363	-0.6654	10	0.45353	T	0.12	-20.1674	14.0218	0.64560	0.078:0.0:0.922:0.0	.	213;204;213;213;213;213	B7Z1Z5;B7Z1I4;Q9P121-4;Q9P121;Q9P121-3;Q9P121-2	.;.;.;NTRI_HUMAN;.;.	Q	213;213;204;213;213;213	ENSP00000363923:R213Q;ENSP00000437668:R213Q;ENSP00000416320:R204Q;ENSP00000363918:R213Q;ENSP00000396722:R213Q;ENSP00000363916:R213Q	ENSP00000363916:R213Q	R	+	2	0	NTM	131682904	1.000000	0.71417	0.996000	0.52242	0.198000	0.23893	5.285000	0.65633	2.894000	0.99253	0.591000	0.81541	CGG		0.582	NTM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000141937.1	NM_016522		7	30	0	0	0	1	0	7	30					A	132177694	G	A	132177694	3	1	205	1	0	0	0	0	1	0	0	0	10699	1116	39	2	738	2	NTM	11	132177694	Missense_Mutation	SNP	G	TCGA-HC-7213-01A-11D-2114-08	6727679	132177694	2828822	36	9445											
MYO1A	4640	broad.mit.edu	37	chr12	57436930	57436930	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gttcttagccagggcgtcccGagcatactgagcctgtgggt	6	10	14	11	2	1	1	0	1	1	0	2	2	2	1	3	2	4	2	3	2	2	3	rs528049947		TCGA-HC-7213-01A-11D-2114-08	TCGA-HC-7213-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	423b7b92-135d-40ff-9db4-37afd44f6094	89d60af8-dd60-4b74-88f5-779f6e026865	g.chr12:57436930G>A	ENST00000442789.2	-	13	1311	c.1024C>T	c.(1024-1026)Cgg>Tgg	p.R342W	MYO1A_ENST00000544473.1_Missense_Mutation_p.R180W|MYO1A_ENST00000300119.3_Missense_Mutation_p.R342W	NM_001256041.1	NP_001242970.1	Q9UBC5	MYO1A_HUMAN	myosin IA	342	Myosin motor.				microvillus assembly (GO:0030033)|sensory perception of sound (GO:0007605)|vesicle localization (GO:0051648)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|basolateral plasma membrane (GO:0016323)|brush border (GO:0005903)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|filamentous actin (GO:0031941)|lateral plasma membrane (GO:0016328)|microvillus (GO:0005902)|myosin complex (GO:0016459)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(7)|urinary_tract(3)	50						AGGGCGTCCCGAGCATACTGA	0.542																																						ENST00000442789.2																			0				breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(7)|urinary_tract(3)	50						c.(1024-1026)Cgg>Tgg		myosin IA							118	103	108					12																	57436930		2203	4300	6503	SO:0001583	missense	4640				sensory perception of sound|vesicle localization	brush border|cortical actin cytoskeleton|filamentous actin|lateral plasma membrane|microvillus|myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	g.chr12:57436930G>A	L29137	CCDS8929.1	12q13-q15	2011-09-27			ENSG00000166866	ENSG00000166866		"Myosins / Myosin superfamily : Class I"	7595	protein-coding gene	gene with protein product		601478		MYHL, DFNA48		8884266, 12736868	Standard	NM_001256041		Approved		uc009zpd.3	Q9UBC5	OTTHUMG00000149899	ENST00000442789.2:c.1024C>T	12.37:g.57436930G>A	ENSP00000393392:p.Arg342Trp					MYO1A_ENST00000300119.3_Missense_Mutation_p.R342W|MYO1A_ENST00000544473.1_Missense_Mutation_p.R180W	p.R342W	NM_001256041.1	NP_001242970.1	Q9UBC5	MYO1A_HUMAN			13	1311	-			342			Myosin head-like.		Q9UQD7	Missense_Mutation	SNP	ENST00000442789.2	37	c.1024C>T	CCDS8929.1	.	.	.	.	.	.	.	.	.	.	G	25.1	4.603818	0.87157	.	.	ENSG00000166866	ENST00000300119;ENST00000442789;ENST00000544473;ENST00000492945	T;T;T;T	0.75704	-0.96;-0.96;-0.96;-0.96	5.17	5.17	0.71159	Myosin head, motor domain (2);	0.000000	0.85682	D	0.000000	D	0.91985	0.7461	H	0.99058	4.415	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	D	0.94627	0.7818	10	0.87932	D	0	.	16.5838	0.84722	0.0:0.0:1.0:0.0	.	342	Q9UBC5	MYO1A_HUMAN	W	342;342;180;38	ENSP00000300119:R342W;ENSP00000393392:R342W;ENSP00000440514:R180W;ENSP00000452229:R38W	ENSP00000300119:R342W	R	-	1	2	MYO1A	55723197	1.000000	0.71417	0.997000	0.53966	0.994000	0.84299	4.380000	0.59581	2.861000	0.98227	0.655000	0.94253	CGG		0.542	MYO1A-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313833.2	NM_005379		5	80	0	0	0	1	0	5	80					A	57436930	G	A	57436930	3	1	205	1	0	0	0	0	1	0	0	0	10068	1057	37	2	2175	2	MYO1A	12	57436930	Missense_Mutation	SNP	G	TCGA-HC-7213-01A-11D-2114-08		57436930	76414965	37	9446											
DIO3	1735	broad.mit.edu	37	chr14	102028507	102028507	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcaccggagcctggaggaccGggtcagcgcagcgagggtac	8	3	18	12	4	1	0	1	0	0	0	1	4	1	3	3	5	4	3	3	5	1	1			TCGA-HC-7213-01A-11D-2114-08	TCGA-HC-7213-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	423b7b92-135d-40ff-9db4-37afd44f6094	89d60af8-dd60-4b74-88f5-779f6e026865	g.chr14:102028507G>A	ENST00000510508.4	+	1	820	c.674G>A	c.(673-675)cGg>cAg	p.R225Q	DIO3_ENST00000359323.3_Missense_Mutation_p.R199Q|DIO3OS_ENST00000408206.1_lincRNA			P55073	IOD3_HUMAN	deiodinase, iodothyronine, type III	225					cellular nitrogen compound metabolic process (GO:0034641)|hormone biosynthetic process (GO:0042446)|positive regulation of multicellular organism growth (GO:0040018)|small molecule metabolic process (GO:0044281)|thyroid hormone catabolic process (GO:0042404)|thyroid hormone generation (GO:0006590)	endosome (GO:0005768)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	thyroxine 5'-deiodinase activity (GO:0004800)|thyroxine 5-deiodinase activity (GO:0033798)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(8)|ovary(3)|skin(1)	22		all_neural(303;0.185)				CTGGAGGACCGGGTCAGCGCA	0.642																																						ENST00000359323.3																			0				central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(8)|ovary(3)|skin(1)	22						c.(595-597)cGg>cAg		deiodinase, iodothyronine, type III							65	75	72					14																	102028507		2121	4227	6348	SO:0001583	missense	1735				cellular nitrogen compound metabolic process|hormone biosynthetic process	endosome membrane|integral to membrane|plasma membrane	thyroxine 5'-deiodinase activity|thyroxine 5-deiodinase activity	g.chr14:102028507G>A	S79854	CCDS41992.1, CCDS41992.2	14q32	2012-10-08			ENSG00000197406	ENSG00000197406			2885	protein-coding gene	gene with protein product		601038		TXDI3		9787088, 7593630	Standard	NM_001362		Approved		uc021sdx.1	P55073	OTTHUMG00000160681	ENST00000510508.4:c.674G>A	14.37:g.102028507G>A	ENSP00000427336:p.Arg225Gln					DIO3_ENST00000510508.4_Missense_Mutation_p.R225Q	p.R199Q	NM_001362.3	NP_001353.4	P55073	IOD3_HUMAN			1	820	+		all_neural(303;0.185)	199					G3XAM0|Q8WVN5	Missense_Mutation	SNP	ENST00000510508.4	37	c.596G>A	CCDS41992.2	.	.	.	.	.	.	.	.	.	.	G	29.7	5.031385	0.93575	.	.	ENSG00000197406;ENSG00000258865	ENST00000359323;ENST00000510508	T;T	0.50277	0.75;0.75	3.86	3.86	0.44501	.	0.000000	0.56097	U	0.000030	T	0.74869	0.3773	M	0.93016	3.37	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.82833	-0.0262	10	0.87932	D	0	.	14.9928	0.71401	0.0:0.0:1.0:0.0	.	199	P55073	IOD3_HUMAN	Q	199;225	ENSP00000352273:R199Q;ENSP00000427336:R225Q	ENSP00000352273:R225Q	R	+	2	0	DIO3;AL049836.1	101098260	1.000000	0.71417	1.000000	0.80357	0.834000	0.47266	9.515000	0.98015	1.998000	0.58463	0.462000	0.41574	CGG		0.642	DIO3-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS|seleno	protein_coding	protein_coding	OTTHUMT00000361712.4	NM_001362		8	101	0	0	0	1	0	8	101					A	102028507	G	A	102028507	3	1	205	1	0	0	0	0	1	0	0	0	4526	1116	39	2	676	2	DIO3	14	102028507	Missense_Mutation	SNP	G	TCGA-HC-7213-01A-11D-2114-08		102028507	5321033	38	9447											
CAPN3	825	broad.mit.edu	37	chr15	42679977	42679977	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgctatggagagtgggtggaCgtggttatagatgactgcct	8	11	16	6	2	0	3	0	1	0	2	0	5	0	4	1	4	1	2	1	4	3	3	rs144383442		TCGA-HC-7213-01A-11D-2114-08	TCGA-HC-7213-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	423b7b92-135d-40ff-9db4-37afd44f6094	89d60af8-dd60-4b74-88f5-779f6e026865	g.chr15:42679977C>T	ENST00000397163.3	+	4	744	c.525C>T	c.(523-525)gaC>gaT	p.D175D	CAPN3_ENST00000318023.7_Silent_p.D175D|CAPN3_ENST00000356316.3_Silent_p.D88D|CAPN3_ENST00000349748.3_Silent_p.D175D|CAPN3_ENST00000357568.3_Silent_p.D175D|RP11-164J13.1_ENST00000495723.1_RNA	NM_000070.2	NP_000061.1	P20807	CAN3_HUMAN	calpain 3, (p94)	175	Calpain catalytic. {ECO:0000255|PROSITE- ProRule:PRU00239}.				apoptotic process (GO:0006915)|autolysis (GO:0001896)|cellular response to calcium ion (GO:0071277)|cellular response to salt stress (GO:0071472)|G1 to G0 transition involved in cell differentiation (GO:0070315)|muscle cell cellular homeostasis (GO:0046716)|muscle organ development (GO:0007517)|muscle structure development (GO:0061061)|myofibril assembly (GO:0030239)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein sumoylation (GO:0033234)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of proteolysis (GO:0045862)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of satellite cell activation involved in skeletal muscle regeneration (GO:0014718)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein localization to membrane (GO:0072657)|proteolysis (GO:0006508)|regulation of catalytic activity (GO:0050790)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of myoblast differentiation (GO:0045661)|response to calcium ion (GO:0051592)|response to muscle activity (GO:0014850)|sarcomere organization (GO:0045214)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular (GO:0005622)|myofibril (GO:0030016)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|T-tubule (GO:0030315)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|catalytic activity (GO:0003824)|cysteine-type peptidase activity (GO:0008234)|ligase regulator activity (GO:0055103)|peptidase activity (GO:0008233)|protein complex scaffold (GO:0032947)|signal transducer activity (GO:0004871)|sodium ion binding (GO:0031402)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	47		all_cancers(109;1.65e-16)|all_epithelial(112;8.34e-15)|Lung NSC(122;3.56e-09)|all_lung(180;1.68e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;7.36e-07)		AGTGGGTGGACGTGGTTATAG	0.493													C|||	1	0.000199681	0	0	5008	,	,		21839	0		0	False		,,,				2504	0.001					ENST00000397163.3																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	47						c.(523-525)gaC>gaT		calpain 3, (p94)		C	,,	3,4403	6.2+/-15.9	0,3,2200	310	251	271		525,525,525	-5.8	0.9	15	dbSNP_134	271	15,8583	9.8+/-36.6	0,15,4284	yes	coding-synonymous,coding-synonymous,coding-synonymous	CAPN3	NM_000070.2,NM_024344.1,NM_173087.1	,,	0,18,6484	TT,TC,CC		0.1745,0.0681,0.1384	,,	175/822,175/816,175/730	42679977	18,12986	2203	4299	6502	SO:0001819	synonymous_variant	825				muscle organ development|proteolysis	cytoplasm	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity|signal transducer activity	g.chr15:42679977C>T	X85030	CCDS10085.1, CCDS10086.1, CCDS32207.1, CCDS45245.1, CCDS45246.1	15q15.1	2014-09-17			ENSG00000092529	ENSG00000092529	3.4.22.52	"EF-hand domain containing"	1480	protein-coding gene	gene with protein product		114240		LGMD2, LGMD2A		2555341, 7720071	Standard	NM_024344		Approved	CANP3, p94, nCL-1	uc001zpn.1	P20807	OTTHUMG00000130619	ENST00000397163.3:c.525C>T	15.37:g.42679977C>T						RP11-164J13.1_ENST00000495723.1_RNA|CAPN3_ENST00000357568.3_Silent_p.D175D|CAPN3_ENST00000356316.3_Silent_p.D88D|CAPN3_ENST00000349748.3_Silent_p.D175D|CAPN3_ENST00000318023.7_Silent_p.D175D	p.D175D	NM_000070.2	NP_000061.1	P20807	CAN3_HUMAN		GBM - Glioblastoma multiforme(94;7.36e-07)	4	744	+		all_cancers(109;1.65e-16)|all_epithelial(112;8.34e-15)|Lung NSC(122;3.56e-09)|all_lung(180;1.68e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)	175			Calpain catalytic.		A6H8K6|Q7L4R0|Q9BQC8|Q9BTU4|Q9Y5S6|Q9Y5S7	Silent	SNP	ENST00000397163.3	37	c.525C>T	CCDS45245.1																																																																																				0.493	CAPN3-009	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000421075.1			35	160	0	0	0	1	0	35	160					T	42679977	C	T	42679977	2	4	205	1	0	0	0	0	0	0	0	1	2628	535	19	1		1	CAPN3	15	42679977	Silent	SNP	C	TCGA-HC-7213-01A-11D-2114-08		42679977	59851415	39	9448											
SEMA6D	80031	broad.mit.edu	37	chr15	48058097	48058097	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agaatgaggaagacaaaaagGtcatctcattacagttggat	17	9	10	5	0	2	3	2	1	1	2	3	5	2	5	0	3	1	1	0	3	5	2			TCGA-HC-7213-01A-11D-2114-08	TCGA-HC-7213-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	423b7b92-135d-40ff-9db4-37afd44f6094	89d60af8-dd60-4b74-88f5-779f6e026865	g.chr15:48058097G>T	ENST00000316364.5	+	14	1898	c.1459G>T	c.(1459-1461)Gtc>Ttc	p.V487F	SEMA6D_ENST00000536845.2_Missense_Mutation_p.V487F|SEMA6D_ENST00000558816.1_Missense_Mutation_p.V487F|SEMA6D_ENST00000354744.4_Missense_Mutation_p.V487F|SEMA6D_ENST00000389428.3_Missense_Mutation_p.V487F|SEMA6D_ENST00000355997.3_Missense_Mutation_p.V487F|SEMA6D_ENST00000389433.2_Missense_Mutation_p.V487F|SEMA6D_ENST00000358066.4_Missense_Mutation_p.V487F|SEMA6D_ENST00000537942.1_Missense_Mutation_p.V487F|SEMA6D_ENST00000558014.1_Missense_Mutation_p.V487F|SEMA6D_ENST00000389432.2_Missense_Mutation_p.V487F	NM_153618.1	NP_705871.1	Q8NFY4	SEM6D_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D	487	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|negative regulation of smooth muscle cell migration (GO:0014912)|positive regulation of smooth muscle cell migration (GO:0014911)|ventricular system development (GO:0021591)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			biliary_tract(1)|breast(4)|endometrium(4)|kidney(5)|large_intestine(10)|lung(42)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	77		all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18)		all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06)		AGACAAAAAGGTCATCTCATT	0.428																																						ENST00000316364.5																			0				biliary_tract(1)|breast(4)|endometrium(4)|kidney(5)|large_intestine(10)|lung(42)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	77						c.(1459-1461)Gtc>Ttc		sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D							201	175	184					15																	48058097		2198	4297	6495	SO:0001583	missense	80031				axon guidance	cytoplasm|integral to membrane|plasma membrane	receptor activity	g.chr15:48058097G>T	AF389430	CCDS32224.1, CCDS32225.1, CCDS32226.1, CCDS32227.1, CCDS32228.1, CCDS32229.1	15q21.1	2006-09-18				ENSG00000137872		"Semaphorins"	16770	protein-coding gene	gene with protein product		609295				12110693, 14977921	Standard	NM_020858		Approved	KIAA1479, FLJ11598	uc001zvy.3	Q8NFY4		ENST00000316364.5:c.1459G>T	15.37:g.48058097G>T	ENSP00000324857:p.Val487Phe					SEMA6D_ENST00000537942.1_Missense_Mutation_p.V487F|SEMA6D_ENST00000355997.3_Missense_Mutation_p.V487F|SEMA6D_ENST00000558014.1_Missense_Mutation_p.V487F|SEMA6D_ENST00000358066.4_Missense_Mutation_p.V487F|SEMA6D_ENST00000389428.3_Missense_Mutation_p.V487F|SEMA6D_ENST00000389433.2_Missense_Mutation_p.V487F|SEMA6D_ENST00000536845.2_Missense_Mutation_p.V487F|SEMA6D_ENST00000354744.4_Missense_Mutation_p.V487F|SEMA6D_ENST00000389432.2_Missense_Mutation_p.V487F|SEMA6D_ENST00000558816.1_Missense_Mutation_p.V487F	p.V487F	NM_153618.1	NP_705871.1	Q8NFY4	SEM6D_HUMAN		all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06)	14	1898	+		all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18)	487			Sema.		A6NF10|A6NM95|A6NNK1|A7E2A0|Q8NFY3|Q8NFY5|Q8NFY6|Q8NFY7|Q9P249	Missense_Mutation	SNP	ENST00000316364.5	37	c.1459G>T	CCDS32225.1	.	.	.	.	.	.	.	.	.	.	G	19.12	3.766629	0.69878	.	.	ENSG00000137872	ENST00000537942;ENST00000536845;ENST00000316364;ENST00000389433;ENST00000389432;ENST00000354744;ENST00000358066;ENST00000389428;ENST00000355997	T;T;T;T;T;T;T;T;T	0.26373	1.74;1.74;1.74;1.74;1.74;1.74;1.74;1.74;1.74	5.68	4.76	0.60689	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (3);	0.114714	0.64402	D	0.000015	T	0.51278	0.1665	M	0.83384	2.64	0.80722	D	1	D;D;D;P;D	0.65815	0.995;0.991;0.995;0.834;0.995	D;P;D;P;D	0.63957	0.92;0.835;0.92;0.536;0.92	T	0.56926	-0.7898	10	0.87932	D	0	.	14.0577	0.64779	0.0721:0.0:0.9279:0.0	.	487;487;487;487;487	Q8NFY4-3;A6NM95;Q8NFY4-4;Q8NFY4;Q8NFY4-2	.;.;.;SEM6D_HUMAN;.	F	487	ENSP00000442040:V487F;ENSP00000446152:V487F;ENSP00000324857:V487F;ENSP00000374084:V487F;ENSP00000374083:V487F;ENSP00000346786:V487F;ENSP00000350770:V487F;ENSP00000374079:V487F;ENSP00000348276:V487F	ENSP00000324857:V487F	V	+	1	0	SEMA6D	45845389	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.678000	0.61641	2.680000	0.91292	0.650000	0.86243	GTC		0.428	SEMA6D-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416868.1	NM_024966		28	50	1	0	2.81731e-10	1	3.37071e-10	28	50					T	48058097	G	T	48058097	3	4	205	1	0	0	0	0	1	0	0	0	14042	1261	44	5	1513	5	SEMA6D	15	48058097	Missense_Mutation	SNP	G	TCGA-HC-7213-01A-11D-2114-08	5378120	48058097	54473295	40	9449											
TAOK2	9344	broad.mit.edu	37	chr16	29998886	29998886	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctgtcacccatggccttccGggccctgcagggctgtgggg	3	8	15	15	1	1	0	1	0	0	0	2	0	2	0	5	5	1	2	5	5	0	1			TCGA-HC-7213-01A-11D-2114-08	TCGA-HC-7213-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	423b7b92-135d-40ff-9db4-37afd44f6094	89d60af8-dd60-4b74-88f5-779f6e026865	g.chr16:29998886G>A	ENST00000308893.4	+	16	4336	c.3293G>A	c.(3292-3294)cGg>cAg	p.R1098Q	TAOK2_ENST00000416441.2_Missense_Mutation_p.R925Q|TAOK2_ENST00000543033.1_Missense_Mutation_p.R985Q|TAOK2_ENST00000279394.3_Intron	NM_001252043.1|NM_016151.3	NP_001238972.1|NP_057235.2	Q9UL54	TAOK2_HUMAN	TAO kinase 2	1098					actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|apoptotic process (GO:0006915)|cell migration (GO:0016477)|cellular response to DNA damage stimulus (GO:0006974)|focal adhesion assembly (GO:0048041)|G2 DNA damage checkpoint (GO:0031572)|positive regulation of JNK cascade (GO:0046330)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein targeting to membrane (GO:0006612)|regulation of cell growth (GO:0001558)|regulation of cell shape (GO:0008360)|response to stress (GO:0006950)|stress-activated MAPK cascade (GO:0051403)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|nucleolus (GO:0005730)|nucleus (GO:0005634)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|mitogen-activated protein kinase kinase binding (GO:0031434)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1)	22						ATGGCCTTCCGGGCCCTGCAG	0.701																																						ENST00000308893.4																			0				breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1)	22						c.(3292-3294)cGg>cAg		TAO kinase 2							47	56	53					16																	29998886		2197	4299	6496	SO:0001583	missense	9344				actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress	cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus	ATP binding|protein serine/threonine kinase activity	g.chr16:29998886G>A	AB020688	CCDS10662.1, CCDS10663.1, CCDS58448.1	16p11.2	2008-02-05			ENSG00000149930	ENSG00000149930			16835	protein-coding gene	gene with protein product		613199				10048485, 9786855	Standard	NM_016151		Approved	TAO1, KIAA0881, PSK, PSK1, TAO2, MAP3K17	uc002dva.2	Q9UL54	OTTHUMG00000132111	ENST00000308893.4:c.3293G>A	16.37:g.29998886G>A	ENSP00000310094:p.Arg1098Gln					TAOK2_ENST00000543033.1_Missense_Mutation_p.R985Q|TAOK2_ENST00000416441.2_Missense_Mutation_p.R925Q|TAOK2_ENST00000279394.3_Intron	p.R1098Q	NM_001252043.1|NM_016151.3	NP_001238972.1|NP_057235.2	Q9UL54	TAOK2_HUMAN			16	4336	+			1098					A5PKY1|A7MCZ2|B2RN35|B7ZM88|O94957|Q6UW73|Q7LC09|Q9NSW2	Missense_Mutation	SNP	ENST00000308893.4	37	c.3293G>A	CCDS10663.1	.	.	.	.	.	.	.	.	.	.	G	15.52	2.858156	0.51376	.	.	ENSG00000149930	ENST00000308893;ENST00000543033	T;T	0.71698	-0.55;-0.59	4.8	3.84	0.44239	.	0.344076	0.21123	N	0.079789	T	0.46814	0.1412	N	0.08118	0	0.23095	N	0.998303	B;B;B	0.15473	0.0;0.013;0.0	B;B;B	0.08055	0.0;0.003;0.0	T	0.24476	-1.0159	9	.	.	.	.	10.1636	0.42866	0.0944:0.0:0.9056:0.0	.	1289;925;1098	Q86V37;Q9UL54-3;Q9UL54	.;.;TAOK2_HUMAN	Q	1098;985	ENSP00000310094:R1098Q;ENSP00000440336:R985Q	.	R	+	2	0	TAOK2	29906387	1.000000	0.71417	0.939000	0.37840	0.982000	0.71751	5.257000	0.65473	1.254000	0.44035	0.563000	0.77884	CGG		0.701	TAOK2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000255152.2	NM_016151		8	106	0	0	0	1	0	8	106					A	29998886	G	A	29998886	3	1	205	1	0	0	0	0	1	0	0	0	15545	1116	39	2	3351	2	TAOK2	16	29998886	Missense_Mutation	SNP	G	TCGA-HC-7213-01A-11D-2114-08		29998886	60355867	41	9450											
CDH8	1006	broad.mit.edu	37	chr16	61891049	61891049	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caggctcaatggaaaaataaGgctgcccttccaatatacta	15	9	7	10	0	1	0	1	0	0	0	2	1	2	1	2	3	2	2	2	3	8	5			TCGA-HC-7213-01A-11D-2114-08	TCGA-HC-7213-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	423b7b92-135d-40ff-9db4-37afd44f6094	89d60af8-dd60-4b74-88f5-779f6e026865	g.chr16:61891049G>T	ENST00000577390.1	-	4	1595	c.641C>A	c.(640-642)cCt>cAt	p.P214H	CDH8_ENST00000577730.1_Missense_Mutation_p.P214H|CDH8_ENST00000299345.6_Missense_Mutation_p.P214H|CDH8_ENST00000584337.1_Missense_Mutation_p.P214H	NM_001796.4	NP_001787.2	P55286	CADH8_HUMAN	cadherin 8, type 2	214	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|response to cold (GO:0009409)|synaptic transmission, glutamatergic (GO:0035249)	axon terminus (GO:0043679)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synaptic cleft (GO:0043083)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		GGAAAAATAAGGCTGCCCTTC	0.403																																						ENST00000577390.1																			0				biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112						c.(640-642)cCt>cAt		cadherin 8, type 2							91	81	85					16																	61891049		2203	4300	6503	SO:0001583	missense	1006				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr16:61891049G>T	L34060	CCDS10802.1	16q22.1	2010-01-26			ENSG00000150394	ENSG00000150394		"Cadherins / Major cadherins"	1767	protein-coding gene	gene with protein product		603008				9615235, 2059658	Standard	NM_001796		Approved		uc002eog.2	P55286	OTTHUMG00000137493	ENST00000577390.1:c.641C>A	16.37:g.61891049G>T	ENSP00000462701:p.Pro214His					CDH8_ENST00000299345.6_Missense_Mutation_p.P214H|CDH8_ENST00000584337.1_Missense_Mutation_p.P214H|CDH8_ENST00000577730.1_Missense_Mutation_p.P214H	p.P214H	NM_001796.4	NP_001787.2	P55286	CADH8_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)	4	1595	-		Ovarian(137;0.0799)|Melanoma(118;0.16)	214			Cadherin 2.		B3KWC1|Q14DC6|Q9ULB2	Missense_Mutation	SNP	ENST00000577390.1	37	c.641C>A	CCDS10802.1	.	.	.	.	.	.	.	.	.	.	G	25.4	4.634453	0.87660	.	.	ENSG00000150394	ENST00000299345	T	0.50001	0.76	5.75	5.75	0.90469	Cadherin (4);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.65312	0.2679	L	0.47016	1.485	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.64483	-0.6397	10	0.59425	D	0.04	.	19.9535	0.97211	0.0:0.0:1.0:0.0	.	214	P55286	CADH8_HUMAN	H	214	ENSP00000299345:P214H	ENSP00000299345:P214H	P	-	2	0	CDH8	60448550	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.308000	0.96247	2.710000	0.92621	0.557000	0.71058	CCT		0.403	CDH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268754.3	NM_001796		8	43	1	0	0.0477658	1	0.0507985	8	43					T	61891049	G	T	61891049	3	4	205	1	0	0	0	0	1	0	0	0	3116	1000	35	5	1794	5	CDH8	16	61891049	Missense_Mutation	SNP	G	TCGA-HC-7213-01A-11D-2114-08	31892163	61891049	28463704	42	9451											
DLG4	1742	broad.mit.edu	37	chr17	7096378	7096378	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctccattttctcccgggaCgacacaaagtggtaatcccg	9	11	8	13	3	2	0	0	0	2	0	5	2	3	1	3	2	0	1	3	2	2	4	rs376280525		TCGA-HC-7213-01A-11D-2114-08	TCGA-HC-7213-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	423b7b92-135d-40ff-9db4-37afd44f6094	89d60af8-dd60-4b74-88f5-779f6e026865	g.chr17:7096378C>T	ENST00000399506.2	-	17	1943	c.1752G>A	c.(1750-1752)tcG>tcA	p.S584S	DLG4_ENST00000399510.2_Silent_p.S627S|DLG4_ENST00000302955.6_Silent_p.S581S			P78352	DLG4_HUMAN	discs, large homolog 4 (Drosophila)	584	Guanylate kinase-like. {ECO:0000255|PROSITE-ProRule:PRU00100}.				alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor clustering (GO:0097113)|axon guidance (GO:0007411)|dendritic spine morphogenesis (GO:0060997)|establishment of protein localization (GO:0045184)|learning (GO:0007612)|locomotory exploration behavior (GO:0035641)|negative regulation of receptor internalization (GO:0002091)|nervous system development (GO:0007399)|neuromuscular process controlling balance (GO:0050885)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of synaptic transmission (GO:0050806)|protein complex assembly (GO:0006461)|protein localization to synapse (GO:0035418)|receptor localization to synapse (GO:0097120)|regulation of grooming behavior (GO:2000821)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|signal transduction (GO:0007165)|social behavior (GO:0035176)|synaptic transmission (GO:0007268)|synaptic vesicle maturation (GO:0016188)|vocalization behavior (GO:0071625)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|cerebellar mossy fiber (GO:0044300)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|dendrite cytoplasm (GO:0032839)|dendritic spine (GO:0043197)|endocytic vesicle membrane (GO:0030666)|endoplasmic reticulum (GO:0005783)|excitatory synapse (GO:0060076)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|juxtaparanode region of axon (GO:0044224)|neuron projection terminus (GO:0044306)|neuron spine (GO:0044309)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)|synaptic vesicle (GO:0008021)	acetylcholine receptor binding (GO:0033130)|beta-1 adrenergic receptor binding (GO:0031697)|D1 dopamine receptor binding (GO:0031748)|ionotropic glutamate receptor binding (GO:0035255)|P2Y1 nucleotide receptor binding (GO:0031812)|PDZ domain binding (GO:0030165)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|protein phosphatase binding (GO:0019903)|scaffold protein binding (GO:0097110)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)	18					Guanidine(DB00536)	TCTCCCGGGACGACACAAAGT	0.567																																						ENST00000399510.2																			0				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)	18						c.(1879-1881)tcG>tcA		discs, large homolog 4 (Drosophila)		C	,	1,4015		0,1,2007	119	123	122		1743,1881	-8.2	0.7	17		122	0,8358		0,0,4179	no	coding-synonymous,coding-synonymous	DLG4	NM_001128827.1,NM_001365.3	,	0,1,6186	TT,TC,CC		0.0,0.0249,0.0081	,	581/722,627/768	7096378	1,12373	2008	4179	6187	SO:0001819	synonymous_variant	1742				axon guidance|learning|protein complex assembly|protein localization to synapse|signal transduction|synaptic transmission	cell junction|cortical cytoskeleton|endocytic vesicle membrane|neuron spine|postsynaptic density|postsynaptic membrane|synaptosome	protein binding|protein C-terminus binding	g.chr17:7096378C>T	U83192	CCDS45599.1, CCDS45600.1	17p13.1	2008-12-15	2001-12-04		ENSG00000132535	ENSG00000132535			2903	protein-coding gene	gene with protein product		602887				9286702	Standard	NM_001128827		Approved	PSD-95, PSD95, SAP90, SAP-90	uc010cly.3	P78352	OTTHUMG00000134327	ENST00000399506.2:c.1752G>A	17.37:g.7096378C>T						DLG4_ENST00000399506.2_Silent_p.S584S|DLG4_ENST00000302955.6_Silent_p.S581S	p.S627S	NM_001365.3	NP_001356.1	P78352	DLG4_HUMAN			19	2733	-			584			Guanylate kinase-like.		B7Z1S1|G5E939|Q92941|Q9UKK8	Silent	SNP	ENST00000399506.2	37	c.1881G>A																																																																																					0.567	DLG4-002	KNOWN	non_canonical_TEC|not_organism_supported|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000259419.2	NM_001365		55	39	0	0	0	1	0	55	39					T	7096378	C	T	7096378	2	4	205	1	0	0	0	0	0	0	0	1	4557	523	19	1		1	DLG4	17	7096378	Silent	SNP	C	TCGA-HC-7213-01A-11D-2114-08		7096378	74098832	43	9452											
TP53	7157	broad.mit.edu	37	chr17	7578555	7578555	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttgttgagggcaggggagtaCtgtaggaagaggaaggagac	12	7	19	3	0	0	3	0	1	0	2	0	7	0	6	0	6	1	4	0	6	4	4			TCGA-HC-7213-01A-11D-2114-08	TCGA-HC-7213-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	423b7b92-135d-40ff-9db4-37afd44f6094	89d60af8-dd60-4b74-88f5-779f6e026865	g.chr17:7578555C>T	ENST00000269305.4	-	5	565		c.e5-1		TP53_ENST00000455263.2_Splice_Site|TP53_ENST00000413465.2_Splice_Site|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000420246.2_Splice_Site|TP53_ENST00000445888.2_Splice_Site|TP53_ENST00000359597.4_Splice_Site	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53						apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.?(39)|p.0?(8)|p.V73fs*9(1)|p.Y126fs*11(1)|p.P13fs*18(1)|p.T125_Y126insX(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	CAGGGGAGTACTGTAGGAAGA	0.552		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"Mis, N, F"	tumor protein p53			"L, E, M, O"		"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"	"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"		51	Unknown(39)|Whole gene deletion(8)|Deletion - Frameshift(3)|Insertion - In frame(1)	p.?(39)|p.0?(8)|p.V73fs*9(1)|p.Y126fs*11(1)|p.P13fs*18(1)|p.T125_Y126insX(1)	ovary(9)|pancreas(6)|bone(5)|upper_aerodigestive_tract(4)|liver(4)|lung(4)|breast(4)|large_intestine(3)|central_nervous_system(3)|oesophagus(3)|haematopoietic_and_lymphoid_tissue(2)|stomach(1)|endometrium(1)|urinary_tract(1)|autonomic_ganglia(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185						c.e5-1	Other conserved DNA damage response genes	tumor protein p53							42	42	42					17																	7578555		2203	4300	6503	SO:0001630	splice_region_variant	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578555C>T	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"Li-Fraumeni syndrome"	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.376-1G>A	17.37:g.7578555C>T		HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_ENST00000359597.4_Splice_Site|TP53_ENST00000269305.4_Splice_Site|TP53_ENST00000445888.2_Splice_Site|TP53_ENST00000413465.2_Splice_Site|TP53_ENST00000455263.2_Splice_Site		NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	5	508	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)						Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Splice_Site	SNP	ENST00000269305.4	37		CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	17.60	3.431133	0.62844	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000514944;ENST00000508793;ENST00000503591	.	.	.	4.87	3.9	0.45041	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.4246	0.50003	0.0:0.9094:0.0:0.0906	.	.	.	.	.	-1	.	.	.	-	.	.	TP53	7519280	1.000000	0.71417	0.999000	0.59377	0.918000	0.54935	7.639000	0.83342	1.359000	0.45940	0.655000	0.94253	.		0.552	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546	Intron	11	6	0	0	0	1	0	11	6					T	7578555	C	T	7578555	5	4	205	1	0	0	0	0	0	0	1	0	16378	579	20	3	923	3	TP53	17	7578555	Splice_Site	SNP	C	TCGA-HC-7213-01A-11D-2114-08	482177	7578555	73616655	44	9453											
SLC5A10	125206	broad.mit.edu	37	chr17	18863892	18863892	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acctgagtacattcagaagcGctacgggggccagcggatcc	10	6	13	12	3	1	2	1	1	0	1	2	3	2	3	3	3	4	2	3	3	3	3			TCGA-HC-7213-01A-11D-2114-08	TCGA-HC-7213-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	423b7b92-135d-40ff-9db4-37afd44f6094	89d60af8-dd60-4b74-88f5-779f6e026865	g.chr17:18863892G>A	ENST00000395645.3	+	5	398	c.380G>A	c.(379-381)cGc>cAc	p.R127H	SLC5A10_ENST00000395647.2_Missense_Mutation_p.R127H|SLC5A10_ENST00000395643.2_Missense_Mutation_p.R127H|SLC5A10_ENST00000395642.1_Missense_Mutation_p.R71H|SLC5A10_ENST00000417251.2_Missense_Mutation_p.R127H|SLC5A10_ENST00000317977.6_Missense_Mutation_p.R71H	NM_001042450.2	NP_001035915.1	A0PJK1	SC5AA_HUMAN	solute carrier family 5 (sodium/sugar cotransporter), member 10	127					sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(3)|ovary(3)|prostate(3)|skin(3)	24						ATTCAGAAGCGCTACGGGGGC	0.607											OREG0024231	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000317977.6																			0				central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(3)|ovary(3)|prostate(3)|skin(3)	24						c.(211-213)cGc>cAc		solute carrier family 5 (sodium/sugar cotransporter), member 10							216	180	193					17																	18863892		2203	4300	6503	SO:0001583	missense	125206				sodium ion transport|transmembrane transport	integral to membrane	transporter activity	g.chr17:18863892G>A		CCDS11201.2, CCDS42275.1, CCDS59277.1, CCDS59278.1, CCDS74008.1	17p11.2	2013-07-19	2013-07-19		ENSG00000154025	ENSG00000154025		"Solute carriers"	23155	protein-coding gene	gene with protein product			"solute carrier family 5 (sodium/glucose cotransporter), member 10"				Standard	NM_152351		Approved	SGLT5	uc002gut.2	A0PJK1	OTTHUMG00000178143	ENST00000395645.3:c.380G>A	17.37:g.18863892G>A	ENSP00000379007:p.Arg127His		OREG0024231	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	728	SLC5A10_ENST00000395642.1_Missense_Mutation_p.R71H|SLC5A10_ENST00000395643.2_Missense_Mutation_p.R127H|SLC5A10_ENST00000395647.2_Missense_Mutation_p.R127H|SLC5A10_ENST00000395645.3_Missense_Mutation_p.R127H|SLC5A10_ENST00000417251.2_Missense_Mutation_p.R127H	p.R71H			A0PJK1	SC5AA_HUMAN			5	783	+			127					A8MUC9|B4DPI0|B7WPR4|Q6P5X0|Q8IXM4|Q96LQ1	Missense_Mutation	SNP	ENST00000395645.3	37	c.212G>A	CCDS42275.1	.	.	.	.	.	.	.	.	.	.	G	33	5.257711	0.95368	.	.	ENSG00000154025	ENST00000317977;ENST00000395647;ENST00000395642;ENST00000417251;ENST00000395645;ENST00000395643	D;D;D;D;D;D	0.98028	-4.67;-3.93;-4.67;-3.93;-3.93;-4.43	4.96	4.96	0.65561	.	0.051915	0.85682	D	0.000000	D	0.99372	0.9779	H	0.99211	4.47	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;0.997	D	0.98225	1.0480	10	0.87932	D	0	.	17.8065	0.88602	0.0:0.0:1.0:0.0	.	127;127;127;127;71	B4DPI0;A0PJK1-2;A0PJK1;A0PJK1-4;A0PJK1-3	.;.;SC5AA_HUMAN;.;.	H	71;127;71;127;127;127	ENSP00000324346:R71H;ENSP00000379008:R127H;ENSP00000379004:R71H;ENSP00000401875:R127H;ENSP00000379007:R127H;ENSP00000379005:R127H	ENSP00000324346:R71H	R	+	2	0	SLC5A10	18804617	1.000000	0.71417	0.999000	0.59377	0.932000	0.56968	8.955000	0.93058	2.308000	0.77769	0.561000	0.74099	CGC		0.607	SLC5A10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132129.2	NM_152351		10	248	0	0	0	1	0	10	248					A	18863892	G	A	18863892	3	1	205	1	0	0	0	0	1	0	0	0	14662	1087	38	1	398	1	SLC5A10	17	18863892	Missense_Mutation	SNP	G	TCGA-HC-7213-01A-11D-2114-08	11285337	18863892	62331318	45	9454											
AOC2	314	broad.mit.edu	37	chr17	41002342	41002342	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cctgtgtcccggacttacccCctttctcttaccacggcttc	4	13	6	18	2	1	0	0	0	1	0	4	1	2	1	5	2	2	1	5	2	2	4	rs376029073		TCGA-HC-7213-01A-11D-2114-08	TCGA-HC-7213-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	423b7b92-135d-40ff-9db4-37afd44f6094	89d60af8-dd60-4b74-88f5-779f6e026865	g.chr17:41002342C>A	ENST00000253799.3	+	4	2275	c.2248C>A	c.(2248-2250)Cct>Act	p.P750T	AOC2_ENST00000452774.2_Missense_Mutation_p.P723T|AOC3_ENST00000308423.2_5'Flank	NM_009590.2	NP_033720.2	O75106	AOC2_HUMAN	amine oxidase, copper containing 2 (retina-specific)	750					amine metabolic process (GO:0009308)|catecholamine metabolic process (GO:0006584)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	aliphatic-amine oxidase activity (GO:0052595)|aminoacetone:oxygen oxidoreductase(deaminating) activity (GO:0052594)|copper ion binding (GO:0005507)|electron carrier activity (GO:0009055)|phenethylamine:oxygen oxidoreductase (deaminating) activity (GO:0052596)|primary amine oxidase activity (GO:0008131)|quinone binding (GO:0048038)|tryptamine:oxygen oxidoreductase (deaminating) activity (GO:0052593)			NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(14)|ovary(4)|skin(2)	30		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.156)		GGACTTACCCCCTTTCTCTTA	0.557																																						ENST00000253799.3																			0				NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(14)|ovary(4)|skin(2)	30						c.(2248-2250)Cct>Act		amine oxidase, copper containing 2 (retina-specific)							148	160	156					17																	41002342		2203	4300	6503	SO:0001583	missense	314				catecholamine metabolic process|visual perception	cytoplasm|plasma membrane	aliphatic-amine oxidase activity|aminoacetone:oxygen oxidoreductase(deaminating) activity|copper ion binding|electron carrier activity|phenethylamine:oxygen oxidoreductase (deaminating) activity|primary amine oxidase activity|quinone binding|tryptamine:oxygen oxidoreductase (deaminating) activity	g.chr17:41002342C>A	AF081363	CCDS11443.1, CCDS45690.1	17q21	2012-07-13				ENSG00000131480	1.4.3.21		549	protein-coding gene	gene with protein product		602268				9119395, 9722954	Standard	NM_001158		Approved	RAO, DAO2	uc002ibu.3	O75106		ENST00000253799.3:c.2248C>A	17.37:g.41002342C>A	ENSP00000253799:p.Pro750Thr					AOC2_ENST00000452774.2_Missense_Mutation_p.P723T	p.P750T	NM_009590.2	NP_033720.2	O75106	AOC2_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.156)	4	2275	+		Breast(137;0.000143)	750					A5PKW2|O00120|O75105|Q4TTW5|Q9UNY0	Missense_Mutation	SNP	ENST00000253799.3	37	c.2248C>A	CCDS11443.1	.	.	.	.	.	.	.	.	.	.	C	12.29	1.895006	0.33442	.	.	ENSG00000131480	ENST00000253799;ENST00000452774	T;T	0.03689	3.84;3.84	4.97	1.81	0.25067	Copper amine oxidase, C-terminal (1);	0.550760	0.18429	N	0.141483	T	0.01940	0.0061	N	0.08118	0	0.31286	N	0.689954	B;B	0.09022	0.001;0.002	B;B	0.17433	0.008;0.018	T	0.30621	-0.9972	10	0.56958	D	0.05	3.0625	2.7623	0.05310	0.1492:0.546:0.1445:0.1603	.	750;723	O75106;O75106-2	AOC2_HUMAN;.	T	750;723	ENSP00000253799:P750T;ENSP00000406134:P723T	ENSP00000253799:P750T	P	+	1	0	AOC2	38255868	0.846000	0.29590	0.499000	0.27577	0.872000	0.50106	1.670000	0.37502	0.126000	0.18424	0.561000	0.74099	CCT		0.557	AOC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452442.1	NM_009590, NM_001158		5	255	1	0	2.0095e-06	1	2.32132e-06	5	255					A	41002342	C	A	41002342	3	1	205	1	0	0	0	0	1	0	0	0	727	623	22	5	2262	5	AOC2	17	41002342	Missense_Mutation	SNP	C	TCGA-HC-7213-01A-11D-2114-08	22138450	41002342	40192868	46	9455											
RUNDC1	146923	broad.mit.edu	37	chr17	41132963	41132963	+	Frame_Shift_Del	DEL	C	C	-																															cggagcagcagcgccttctgCgggagctcgaagacttcgcc																										TCGA-HC-7213-01A-11D-2114-08	TCGA-HC-7213-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	423b7b92-135d-40ff-9db4-37afd44f6094	89d60af8-dd60-4b74-88f5-779f6e026865	g.chr17:41132963delC	ENST00000361677.1	+	1	382	c.370delC	c.(370-372)cggfs	p.R124fs	PTGES3L-AARSD1_ENST00000421990.2_5'Flank|PTGES3L_ENST00000409446.3_5'Flank|PTGES3L-AARSD1_ENST00000409399.1_5'Flank|PTGES3L-AARSD1_ENST00000409103.1_5'Flank|PTGES3L-AARSD1_ENST00000360221.4_5'Flank|PTGES3L_ENST00000453594.1_5'Flank	NM_173079.2	NP_775102	Q96C34	RUND1_HUMAN	RUN domain containing 1	124										breast(1)|large_intestine(2)|lung(4)|prostate(1)	8		Breast(137;0.00499)		BRCA - Breast invasive adenocarcinoma(366;0.161)		GCGCCTTCTGCGGGAGCTCGA	0.726																																						ENST00000361677.1																			0				breast(1)|large_intestine(2)|lung(4)|prostate(1)	8						c.(370-372)ggfs		RUN domain containing 1							2	3	3					17																	41132963		1755	3543	5298	SO:0001589	frameshift_variant	146923							g.chr17:41132963delC	AL831813	CCDS11448.1	17q21.31	2004-02-27				ENSG00000198863			25418	protein-coding gene	gene with protein product						12477932	Standard	NM_173079		Approved	DKFZp761H0421	uc002ici.1	Q96C34		ENST00000361677.1:c.370delC	17.37:g.41132963delC	ENSP00000354622:p.Arg124fs						p.R124fs	NM_173079.2	NP_775102.2	Q96C34	RUND1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.161)	1	382	+		Breast(137;0.00499)	124					Q6Y2K8|Q8IXT9|Q8N3W1	Frame_Shift_Del	DEL	ENST00000361677.1	37	c.370delC	CCDS11448.1																																																																																				0.726	RUNDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452464.1	NM_173079		2	4						2	4	---	---	---	---	-	41132963	C	-	41132963	7	5	205	1	0	1	0	1	0	0	0	0	13742	759	27	0	372	0	RUNDC1	17	41132963	Frame_Shift_Del	DEL	C	TCGA-HC-7213-01A-11D-2114-08	130621	41132963	40062247	47	9456											
FASN	2194	broad.mit.edu	37	chr17	80046850	80046850	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccaggctgggcctacctgcaGcagggcgtggggcgcgatct	5	6	17	13	3	1	0	0	0	1	0	1	1	1	0	3	5	3	3	3	5	1	1			TCGA-HC-7213-01A-11D-2114-08	TCGA-HC-7213-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	423b7b92-135d-40ff-9db4-37afd44f6094	89d60af8-dd60-4b74-88f5-779f6e026865	g.chr17:80046850G>T	ENST00000306749.2	-	14	2517	c.2299C>A	c.(2299-2301)Ctg>Atg	p.L767M		NM_004104.4	NP_004095.4	P49327	FAS_HUMAN	fatty acid synthase	767	Acyl and malonyl transferases. {ECO:0000250}.				acetyl-CoA metabolic process (GO:0006084)|cellular lipid metabolic process (GO:0044255)|cellular response to interleukin-4 (GO:0071353)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|fatty acid metabolic process (GO:0006631)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|osteoblast differentiation (GO:0001649)|pantothenate metabolic process (GO:0015939)|positive regulation of cellular metabolic process (GO:0031325)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|glycogen granule (GO:0042587)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	3-hydroxyoctanoyl-[acyl-carrier-protein] dehydratase activity (GO:0047451)|3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity (GO:0004317)|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity (GO:0004316)|3-oxoacyl-[acyl-carrier-protein] synthase activity (GO:0004315)|[acyl-carrier-protein] S-acetyltransferase activity (GO:0004313)|[acyl-carrier-protein] S-malonyltransferase activity (GO:0004314)|drug binding (GO:0008144)|enoyl-[acyl-carrier-protein] reductase (NADPH, A-specific) activity (GO:0047117)|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity (GO:0004319)|fatty acid synthase activity (GO:0004312)|myristoyl-[acyl-carrier-protein] hydrolase activity (GO:0016295)|NADPH binding (GO:0070402)|oleoyl-[acyl-carrier-protein] hydrolase activity (GO:0004320)|palmitoyl-[acyl-carrier-protein] hydrolase activity (GO:0016296)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1)	34	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		Cerulenin(DB01034)|Orlistat(DB01083)	CCTACCTGCAGCAGGGCGTGG	0.697																																					Colon(59;314 1043 11189 28578 32273)	ENST00000306749.2																			0				central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1)	34						c.(2299-2301)Ctg>Atg		fatty acid synthase	Cerulenin(DB01034)|Orlistat(DB01083)|Pyrazinamide(DB00339)						28	23	25					17																	80046850		2187	4291	6478	SO:0001583	missense	2194				energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|pantothenate metabolic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	cytosol|Golgi apparatus|melanosome|plasma membrane	3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity|3-oxoacyl-[acyl-carrier-protein] synthase activity|[acyl-carrier-protein] S-acetyltransferase activity|[acyl-carrier-protein] S-malonyltransferase activity|acyl carrier activity|cofactor binding|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity|myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity|phosphopantetheine binding|protein binding|zinc ion binding	g.chr17:80046850G>T	U26644	CCDS11801.1	17q25	2012-01-31			ENSG00000169710	ENSG00000169710	2.3.1.85	"Short chain dehydrogenase/reductase superfamily / Atypical members"	3594	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 27X, member 1"	600212				7835891, 7567999, 19027726	Standard	NM_004104		Approved	FAS, SDR27X1	uc002kdu.3	P49327		ENST00000306749.2:c.2299C>A	17.37:g.80046850G>T	ENSP00000304592:p.Leu767Met						p.L767M	NM_004104.4	NP_004095.4	P49327	FAS_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		14	2517	-	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		767			Acyl and malonyl transferases (By similarity).		Q13479|Q16702|Q4LE83|Q6P4U5|Q6SS02|Q969R1|Q96C68|Q96IT0	Missense_Mutation	SNP	ENST00000306749.2	37	c.2299C>A	CCDS11801.1	.	.	.	.	.	.	.	.	.	.	G	16.08	3.021131	0.54576	.	.	ENSG00000169710	ENST00000306749	T	0.55760	0.5	4.38	3.4	0.38934	Acyl transferase/acyl hydrolase/lysophospholipase (1);Acyl transferase (1);Acyl transferase domain (1);	0.000000	0.56097	D	0.000021	T	0.71013	0.3290	M	0.87328	2.875	0.80722	D	1	D	0.69078	0.997	D	0.73708	0.981	T	0.71364	-0.4615	10	0.56958	D	0.05	-20.0757	7.4832	0.27417	0.2628:0.0:0.7372:0.0	.	767	P49327	FAS_HUMAN	M	767	ENSP00000304592:L767M	ENSP00000304592:L767M	L	-	1	2	FASN	77640139	0.995000	0.38212	1.000000	0.80357	0.881000	0.50899	1.757000	0.38400	0.835000	0.34877	0.462000	0.41574	CTG		0.697	FASN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442369.1	NM_004104		7	9	1	0	0.00448238	1	0.00492327	7	9					T	80046850	G	T	80046850	3	4	205	1	0	0	0	0	1	0	0	0	5683	962	34	5	5356	5	FASN	17	80046850	Missense_Mutation	SNP	G	TCGA-HC-7213-01A-11D-2114-08	38913887	80046850	1148360	48	9457											
ROCK1	6093	broad.mit.edu	37	chr18	18625328	18625328	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatagaatcgtgcccattttTcaggcacatcatagttgctc	10	14	7	10	1	2	1	2	0	0	1	4	1	2	1	1	1	2	3	1	1	4	6			TCGA-HC-7213-01A-11D-2114-08	TCGA-HC-7213-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	423b7b92-135d-40ff-9db4-37afd44f6094	89d60af8-dd60-4b74-88f5-779f6e026865	g.chr18:18625328T>C	ENST00000399799.2	-	5	1455	c.515A>G	c.(514-516)gAa>gGa	p.E172G		NM_005406.2	NP_005397.1	Q13464	ROCK1_HUMAN	Rho-associated, coiled-coil containing protein kinase 1	172	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				actin cytoskeleton organization (GO:0030036)|apical constriction (GO:0003383)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|bleb assembly (GO:0032060)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte tethering or rolling (GO:0050901)|membrane to membrane docking (GO:0022614)|myoblast migration (GO:0051451)|negative regulation of angiogenesis (GO:0016525)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of focal adhesion assembly (GO:0051894)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell adhesion (GO:0030155)|regulation of cell motility (GO:2000145)|regulation of establishment of cell polarity (GO:2000114)|regulation of focal adhesion assembly (GO:0051893)|regulation of keratinocyte differentiation (GO:0045616)|regulation of stress fiber assembly (GO:0051492)|Rho protein signal transduction (GO:0007266)|signal transduction (GO:0007165)|smooth muscle contraction (GO:0006939)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(4)|central_nervous_system(1)|large_intestine(8)|lung(2)	16	Melanoma(1;0.165)					TGCCCATTTTTCAGGCACATC	0.368																																						ENST00000399799.1																			0				NS(1)|breast(4)|central_nervous_system(1)|large_intestine(8)|lung(2)	16						c.(514-516)gAa>gGa		Rho-associated, coiled-coil containing protein kinase 1							123	113	116					18																	18625328		2203	4300	6503	SO:0001583	missense	6093				actin cytoskeleton organization|axon guidance|cellular component disassembly involved in apoptosis|cytokinesis|leukocyte tethering or rolling|membrane to membrane docking|Rho protein signal transduction	centriole|cytosol|Golgi membrane	ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity	g.chr18:18625328T>C		CCDS11870.2	18q11.2	2013-01-10			ENSG00000067900	ENSG00000067900	2.7.11.1	"Pleckstrin homology (PH) domain containing"	10251	protein-coding gene	gene with protein product		601702				8617235	Standard	NM_005406		Approved	p160ROCK	uc002kte.3	Q13464	OTTHUMG00000131723	ENST00000399799.2:c.515A>G	18.37:g.18625328T>C	ENSP00000382697:p.Glu172Gly						p.E172G	NM_005406.2	NP_005397.1	Q13464	ROCK1_HUMAN			5	1455	-	Melanoma(1;0.165)		172			Protein kinase.		B0YJ91|Q2KHM4|Q59GZ4	Missense_Mutation	SNP	ENST00000399799.2	37	c.515A>G	CCDS11870.2	.	.	.	.	.	.	.	.	.	.	T	23.9	4.467755	0.84533	.	.	ENSG00000067900	ENST00000399799	T	0.31510	1.49	5.36	5.36	0.76844	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.050824	0.85682	D	0.000000	T	0.60025	0.2237	M	0.89904	3.07	0.80722	D	1	D	0.61080	0.989	P	0.60886	0.88	T	0.69401	-0.5155	10	0.66056	D	0.02	.	15.5304	0.75956	0.0:0.0:0.0:1.0	.	172	Q13464	ROCK1_HUMAN	G	172	ENSP00000382697:E172G	ENSP00000382697:E172G	E	-	2	0	ROCK1	16879326	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.008000	0.70739	2.246000	0.74042	0.533000	0.62120	GAA		0.368	ROCK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254641.2	NM_005406		8	5	0	0	0	1	0	8	5					C	18625328	T	C	18625328	3	2	205	1	0	0	0	0	1	0	0	0	13517	1783	62	4	3665	4	ROCK1	18	18625328	Missense_Mutation	SNP	T	TCGA-HC-7213-01A-11D-2114-08		18625328	59451920	49	9458											
WDR7	23335	broad.mit.edu	37	chr18	54547245	54547245	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaagacggaagcaagctacCgctattgttttacttggagt	12	11	11	7	2	0	1	0	0	0	1	0	4	0	3	1	2	4	4	1	2	6	6	rs373430666		TCGA-HC-7213-01A-11D-2114-08	TCGA-HC-7213-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	423b7b92-135d-40ff-9db4-37afd44f6094	89d60af8-dd60-4b74-88f5-779f6e026865	g.chr18:54547245C>A	ENST00000254442.3	+	21	3586	c.3375C>A	c.(3373-3375)acC>acA	p.T1125T	WDR7_ENST00000357574.3_Silent_p.T1092T|WDR7_ENST00000589935.1_Intron	NM_015285.2	NP_056100.2	Q9Y4E6	WDR7_HUMAN	WD repeat domain 7	1125					hematopoietic progenitor cell differentiation (GO:0002244)					NS(1)|breast(5)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(37)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	78				Lung(128;0.0238)|Colorectal(16;0.0296)		AGCAAGCTACCGCTATTGTTT	0.398																																						ENST00000254442.3																			0				NS(1)|breast(5)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(37)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	78						c.(3373-3375)acC>acA		WD repeat domain 7							91	84	86					18																	54547245		2203	4300	6503	SO:0001819	synonymous_variant	23335							g.chr18:54547245C>A	AB011113	CCDS11962.1, CCDS11963.1	18q21.31	2013-01-09			ENSG00000091157	ENSG00000091157		"WD repeat domain containing"	13490	protein-coding gene	gene with protein product		613473				10828621	Standard	XM_005266674		Approved	KIAA0541, TRAG	uc002lgk.1	Q9Y4E6	OTTHUMG00000132721	ENST00000254442.3:c.3375C>A	18.37:g.54547245C>A						WDR7_ENST00000589935.1_Intron|WDR7_ENST00000357574.3_Silent_p.T1092T	p.T1125T	NM_015285.2	NP_056100.2	Q9Y4E6	WDR7_HUMAN		Lung(128;0.0238)|Colorectal(16;0.0296)	21	3586	+			1125					A7E2C8|Q86UX5|Q86VP2|Q96PS7	Silent	SNP	ENST00000254442.3	37	c.3375C>A	CCDS11962.1																																																																																				0.398	WDR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256062.1			3	45	1	0	1	1	1	3	45					A	54547245	C	A	54547245	2	1	205	1	0	0	0	0	0	0	0	1	17317	639	23	5		5	WDR7	18	54547245	Silent	SNP	C	TCGA-HC-7213-01A-11D-2114-08	35921917	54547245	23530003	50	9459											
ADAMTS10	81794	broad.mit.edu	37	chr19	8668748	8668748	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaatcaggtactcttcctcGtctgccacgatcaggccgtg	7	11	9	14	3	5	0	3	0	2	0	7	1	6	0	3	2	2	1	3	2	2	2	rs371629978		TCGA-HC-7213-01A-11D-2114-08	TCGA-HC-7213-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	423b7b92-135d-40ff-9db4-37afd44f6094	89d60af8-dd60-4b74-88f5-779f6e026865	g.chr19:8668748G>A	ENST00000597188.1	-	5	726	c.456C>T	c.(454-456)gaC>gaT	p.D152D	ADAMTS10_ENST00000270328.4_Silent_p.D152D|ADAMTS10_ENST00000596709.1_5'UTR	NM_030957.2	NP_112219.3	Q9H324	ATS10_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 10	152						extracellular matrix (GO:0031012)|microfibril (GO:0001527)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(16)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(3)|skin(10)|urinary_tract(1)	53						ACTCTTCCTCGTCTGCCACGA	0.572																																						ENST00000270328.4																			0				NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(16)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(3)|skin(10)|urinary_tract(1)	53						c.(454-456)gaC>gaT		ADAM metallopeptidase with thrombospondin type 1 motif, 10		G		0,4406		0,0,2203	78	70	73		456	-3.9	0.8	19		73	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	ADAMTS10	NM_030957.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		152/1104	8668748	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	81794				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr19:8668748G>A	AF163762	CCDS12206.1, CCDS62529.1	19p13.2	2014-08-12	2005-08-19		ENSG00000142303	ENSG00000142303		"ADAM metallopeptidases with thrombospondin type 1 motif"	13201	protein-coding gene	gene with protein product		608990	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 10"				Standard	XM_005272499		Approved	ADAM-TS10	uc002mkj.1	Q9H324	OTTHUMG00000182216	ENST00000597188.1:c.456C>T	19.37:g.8668748G>A						ADAMTS10_ENST00000597188.1_Silent_p.D152D|ADAMTS10_ENST00000596709.1_5'UTR	p.D152D			Q9H324	ATS10_HUMAN			4	722	-			152					M0QZE4	Silent	SNP	ENST00000597188.1	37	c.456C>T	CCDS12206.1																																																																																				0.572	ADAMTS10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460085.3	NM_030957		11	48	0	0	0	1	0	11	48					A	8668748	G	A	8668748	2	1	205	1	0	0	0	0	0	0	0	1	256	1136	40	1		1	ADAMTS10	19	8668748	Silent	SNP	G	TCGA-HC-7213-01A-11D-2114-08		8668748	50460235	51	9460											
MUC16	94025	broad.mit.edu	37	chr19	9005698	9005698	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggcggtgggtgcagatggcGtccactctggtggctactcc	4	9	17	11	2	1	1	0	0	1	1	3	1	3	1	2	6	2	2	2	6	1	1			TCGA-HC-7213-01A-11D-2114-08	TCGA-HC-7213-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	423b7b92-135d-40ff-9db4-37afd44f6094	89d60af8-dd60-4b74-88f5-779f6e026865	g.chr19:9005698G>A	ENST00000397910.4	-	46	39911	c.39708C>T	c.(39706-39708)gaC>gaT	p.D13236D	MUC16_ENST00000380951.5_5'Flank	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	13238	SEA 8. {ECO:0000255|PROSITE- ProRule:PRU00188}.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)		p.D388D(1)|p.D13236D(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TGCAGATGGCGTCCACTCTGG	0.572																																						ENST00000397910.4																			2	Substitution - coding silent(2)	p.D388D(1)|p.D13236D(1)	large_intestine(2)	NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(39706-39708)gaC>gaT		mucin 16, cell surface associated							78	75	76					19																	9005698		2058	4184	6242	SO:0001819	synonymous_variant	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9005698G>A	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.39708C>T	19.37:g.9005698G>A							p.D13236D	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			46	39911	-			13238			SEA 8.		Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	c.39708C>T	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	.	2.533	-0.308043	0.05458	.	.	ENSG00000181143	ENST00000542240	.	.	.	3.51	-7.02	0.01589	.	.	.	.	.	T	0.49218	0.1544	.	.	.	.	.	.	.	.	.	.	.	.	T	0.57751	-0.7757	3	.	.	.	-11.1203	15.4794	0.75514	0.3131:0.0:0.6869:0.0	.	.	.	.	M	76	.	.	T	-	2	0	MUC16	8866698	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-3.269000	0.00532	-3.097000	0.00245	-3.376000	0.00041	ACG		0.572	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		13	25	0	0	0	1	0	13	25					A	9005698	G	A	9005698	2	1	205	1	0	0	0	0	0	0	0	1	9973	1136	40	1		1	MUC16	19	9005698	Silent	SNP	G	TCGA-HC-7213-01A-11D-2114-08	336950	9005698	50123285	52	9461											
ZNF585B	92285	broad.mit.edu	37	chr19	37677690	37677690	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtgtggacttttgtgtgaacGctttgccacagtcagtgcat	7	14	12	8	1	1	1	1	1	0	0	1	2	1	2	1	1	3	2	1	1	1	3	rs147861258		TCGA-HC-7213-01A-11D-2114-08	TCGA-HC-7213-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	423b7b92-135d-40ff-9db4-37afd44f6094	89d60af8-dd60-4b74-88f5-779f6e026865	g.chr19:37677690G>A	ENST00000532828.2	-	5	1000	c.749C>T	c.(748-750)gCg>gTg	p.A250V	ZNF585B_ENST00000527838.1_3'UTR|CTC-454I21.3_ENST00000585860.2_Intron|ZNF585B_ENST00000531805.1_Missense_Mutation_p.A195V|ZNF585B_ENST00000312908.5_5'UTR	NM_152279.3	NP_689492.3	Q52M93	Z585B_HUMAN	zinc finger protein 585B	250					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(3)|endometrium(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)	29			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TTGTGTGAACGCTTTGCCACA	0.428													G|||	1	0.000199681	0	0	5008	,	,		19294	0.001		0	False		,,,				2504	0				Melanoma(93;882 1454 18863 28917 48427)	ENST00000532828.2																			0				NS(1)|breast(3)|endometrium(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)	29						c.(748-750)gCg>gTg		zinc finger protein 585B		G	VAL/ALA	1,4405	2.1+/-5.4	0,1,2202	175	169	171		749	2.4	1	19	dbSNP_134	171	0,8600		0,0,4300	no	missense	ZNF585B	NM_152279.3	64	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	250/770	37677690	1,13005	2203	4300	6503	SO:0001583	missense	92285				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	g.chr19:37677690G>A	AK027834	CCDS12500.1	19q13.13	2013-01-08				ENSG00000245680		"Zinc fingers, C2H2-type", "-"	30948	protein-coding gene	gene with protein product						12477932	Standard	NM_152279		Approved	FLJ14928, SZFP41	uc002ofq.3	Q52M93		ENST00000532828.2:c.749C>T	19.37:g.37677690G>A	ENSP00000433773:p.Ala250Val					ZNF585B_ENST00000531805.1_Missense_Mutation_p.A195V|ZNF585B_ENST00000312908.5_5'UTR|ZNF585B_ENST00000527838.1_3'UTR|CTC-454I21.3_ENST00000585860.2_Intron	p.A250V	NM_152279.3	NP_689492.3	Q52M93	Z585B_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		5	1000	-			250					Q8IZD3|Q96JW6	Missense_Mutation	SNP	ENST00000532828.2	37	c.749C>T	CCDS12500.1	.	.	.	.	.	.	.	.	.	.	G	7.655	0.683793	0.14907	2.27E-4	0.0	ENSG00000245680	ENST00000531805;ENST00000532828	T;T	0.19105	2.17;2.17	2.41	2.41	0.29592	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.37348	N	0.002137	T	0.16257	0.0391	L	0.42008	1.315	0.20638	N	0.999871	D;P	0.57899	0.981;0.955	P;B	0.44897	0.463;0.439	T	0.11108	-1.0601	10	0.45353	T	0.12	.	3.8354	0.08891	0.1534:0.2575:0.5891:0.0	.	195;250	E9PQH3;Q52M93	.;Z585B_HUMAN	V	195;250	ENSP00000436774:A195V;ENSP00000433773:A250V	ENSP00000436774:A195V	A	-	2	0	ZNF585B	42369530	0.000000	0.05858	0.983000	0.44433	0.051000	0.14879	-0.378000	0.07446	1.338000	0.45544	0.455000	0.32223	GCG		0.428	ZNF585B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388272.2	NM_152279		12	139	0	0	0	1	0	12	139					A	37677690	G	A	37677690	3	1	205	1	0	0	0	0	1	0	0	0	18015	1087	38	1	1564	1	ZNF585B	19	37677690	Missense_Mutation	SNP	G	TCGA-HC-7213-01A-11D-2114-08	28671992	37677690	21451293	53	9462											
YIF1B	90522	broad.mit.edu	37	chr19	38806529	38806531	+	In_Frame_Del	DEL	GCC	GCC	-																															gcagccggggcgtccccgcaGccgccgccgccaagcctgcc																										TCGA-HC-7213-01A-11D-2114-08	TCGA-HC-7213-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	423b7b92-135d-40ff-9db4-37afd44f6094	89d60af8-dd60-4b74-88f5-779f6e026865	g.chr19:38806529_38806531delGCC	ENST00000339413.6	-	1	72_74	c.27_29delGGC	c.(25-30)gcggct>gct	p.9_10AA>A	YIF1B_ENST00000591755.1_In_Frame_Del_p.9_10AA>A|YIF1B_ENST00000592694.1_5'UTR|YIF1B_ENST00000337679.8_In_Frame_Del_p.9_10AA>A|YIF1B_ENST00000329420.8_5'Flank|YIF1B_ENST00000587361.1_5'Flank|YIF1B_ENST00000591784.1_5'Flank	NM_001039672.2|NM_001039673.2	NP_001034761.1|NP_001034762.1	Q5BJH7	YIF1B_HUMAN	Yip1 interacting factor homolog B (S. cerevisiae)	9						integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|prostate(1)	10	all_cancers(60;1.07e-06)		Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			CGTCCCCGCAGCCGCCGCCGCCA	0.788																																						ENST00000337679.8																			0				central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|prostate(1)	10						c.(25-30)gct>gc		Yip1 interacting factor homolog B (S. cerevisiae)			,,	1,2077		0,1,1038					,,	-3.9	0.9			3	9,4713		1,7,2353	no	coding,coding,coding	YIF1B	NM_001145463.1,NM_001039673.2,NM_001039672.2	,,	1,8,3391	A1A1,A1R,RR		0.1906,0.0481,0.1471	,,	,,		10,6790				SO:0001651	inframe_deletion	90522					integral to membrane		g.chr19:38806529_38806531delGCC	AL833382	CCDS12512.1, CCDS33010.1, CCDS46066.1, CCDS46067.1	19q13.2	2008-02-05							30511	protein-coding gene	gene with protein product						12975309	Standard	NM_001039672		Approved	FinGER8	uc002ohz.2	Q5BJH7		ENST00000339413.6:c.27_29delGGC	19.37:g.38806538_38806540delGCC	ENSP00000343435:p.Ala11del					YIF1B_ENST00000591755.1_In_Frame_Del_p.AA9del|YIF1B_ENST00000592694.1_5'UTR|YIF1B_ENST00000339413.6_In_Frame_Del_p.AA9del	p.AA9del	NM_001145463.1	NP_001138935.1	Q5BJH7	YIF1B_HUMAN	Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)		1	32_34	-	all_cancers(60;1.07e-06)		9					H7BXS8|Q5JPC2|Q8WY70|Q96C02|Q96IC4	In_Frame_Del	DEL	ENST00000339413.6	37	c.27_29delGGC	CCDS33010.1																																																																																				0.788	YIF1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460511.1	NM_033557		2	4						2	4	---	---	---	---	-	38806531	GCC	-	38806529	7	5	205	1	0	1	0	1	0	0	0	0	17473	971	34	0	1045	0	YIF1B	19	38806529	In_Frame_Del	DEL	GCC	TCGA-HC-7213-01A-11D-2114-08	1128839	38806529	20322454	54	9463											
PSG4	5672	broad.mit.edu	37	chr19	43708257	43708257	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atggtagaggtatgtcatttGccctttgtaccaaatgtagc	10	14	10	7	0	1	1	1	0	0	1	1	1	1	1	2	2	3	4	2	2	5	6			TCGA-HC-7213-01A-11D-2114-08	TCGA-HC-7213-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	423b7b92-135d-40ff-9db4-37afd44f6094	89d60af8-dd60-4b74-88f5-779f6e026865	g.chr19:43708257G>T	ENST00000405312.3	-	2	448	c.211C>A	c.(211-213)Caa>Aaa	p.Q71K	PSG4_ENST00000433626.2_Missense_Mutation_p.Q71K|PSG4_ENST00000244295.9_Missense_Mutation_p.Q71K	NM_002780.3	NP_002771.2	Q00888	PSG4_HUMAN	pregnancy specific beta-1-glycoprotein 4	71	Ig-like V-type.				female pregnancy (GO:0007565)	extracellular vesicular exosome (GO:0070062)				central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	24		Prostate(69;0.00682)				TATGTCATTTGCCCTTTGTAC	0.418																																						ENST00000405312.3																			0				central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	24						c.(211-213)Caa>Aaa		pregnancy specific beta-1-glycoprotein 4							188	199	195					19																	43708257		2129	4269	6398	SO:0001583	missense	5672				defense response|female pregnancy	extracellular region		g.chr19:43708257G>T		CCDS33039.1, CCDS46093.1, CCDS62695.1	19q13.2	2013-01-29			ENSG00000243137	ENSG00000243137		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	9521	protein-coding gene	gene with protein product	"pregnancy-specific beta-1-glycoprotein 4"	176393				2783133	Standard	NM_002780		Approved		uc002ovy.4	Q00888	OTTHUMG00000151544	ENST00000405312.3:c.211C>A	19.37:g.43708257G>T	ENSP00000384770:p.Gln71Lys					PSG4_ENST00000244295.9_Missense_Mutation_p.Q71K|PSG4_ENST00000433626.2_Missense_Mutation_p.Q71K	p.Q71K	NM_002780.3	NP_002771.2	Q00888	PSG4_HUMAN			2	448	-		Prostate(69;0.00682)	71			Ig-like V-type.		E7EX79|Q13047|Q13048|Q15234|Q15240|Q9UQ76	Missense_Mutation	SNP	ENST00000405312.3	37	c.211C>A	CCDS46093.1	.	.	.	.	.	.	.	.	.	.	N	3.865	-0.029083	0.07589	.	.	ENSG00000243137	ENST00000244295;ENST00000405312;ENST00000433626;ENST00000451895	T;T;T;T	0.01474	4.85;4.85;4.85;4.85	1.65	-3.31	0.04988	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.01287	0.0042	N	0.25426	0.745	0.09310	N	1	B;B;B	0.14012	0.003;0.009;0.005	B;B;B	0.18871	0.023;0.02;0.014	T	0.46317	-0.9200	9	0.33940	T	0.23	.	3.1573	0.06509	0.0:0.2702:0.2395:0.4903	.	71;71;71	E7EX79;Q00888-2;Q00888	.;.;PSG4_HUMAN	K	71;71;71;87	ENSP00000244295:Q71K;ENSP00000384770:Q71K;ENSP00000387864:Q71K;ENSP00000388134:Q87K	ENSP00000244295:Q71K	Q	-	1	0	PSG4	48400097	0.000000	0.05858	0.000000	0.03702	0.016000	0.09150	-0.883000	0.04170	-0.867000	0.04063	0.173000	0.16961	CAA		0.418	PSG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323073.1	NM_213633		73	144	1	0	2.23852e-25	1	2.77743e-25	73	144					T	43708257	G	T	43708257	3	4	205	1	0	0	0	0	1	0	0	0	12657	1328	46	5	1068	5	PSG4	19	43708257	Missense_Mutation	SNP	G	TCGA-HC-7213-01A-11D-2114-08	4901728	43708257	15420726	55	9464											
DIP2A	23181	broad.mit.edu	37	chr21	47971767	47971767	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggctgacgtgctgcagtggCgtgcccacaccactcctgac	6	8	12	15	2	0	2	0	2	0	0	1	2	1	2	3	2	3	3	3	2	0	0			TCGA-HC-7213-01A-11D-2114-08	TCGA-HC-7213-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	423b7b92-135d-40ff-9db4-37afd44f6094	89d60af8-dd60-4b74-88f5-779f6e026865	g.chr21:47971767C>T	ENST00000417564.2	+	25	3001	c.2980C>T	c.(2980-2982)Cgt>Tgt	p.R994C	DIP2A_ENST00000427143.2_Missense_Mutation_p.R930C|DIP2A_ENST00000400274.1_Missense_Mutation_p.R990C|DIP2A_ENST00000318711.7_Missense_Mutation_p.R995C			Q14689	DIP2A_HUMAN	DIP2 disco-interacting protein 2 homolog A (Drosophila)	994					multicellular organismal development (GO:0007275)|negative regulation of gene expression (GO:0010629)|regulation of apoptotic process (GO:0042981)	cell surface (GO:0009986)|nucleus (GO:0005634)	catalytic activity (GO:0003824)			cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(22)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Breast(49;0.0933)			Epithelial(3;3.12e-06)|OV - Ovarian serous cystadenocarcinoma(3;5.68e-06)|all cancers(3;4.08e-05)|Colorectal(79;0.0129)|COAD - Colon adenocarcinoma(84;0.0824)		GCTGCAGTGGCGTGCCCACAC	0.662																																						ENST00000318711.7																			0				cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(22)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						c.(2983-2985)Cgt>Tgt		DIP2 disco-interacting protein 2 homolog A (Drosophila)							36	39	38					21																	47971767		2190	4272	6462	SO:0001583	missense	23181				multicellular organismal development	nucleus	catalytic activity|transcription factor binding	g.chr21:47971767C>T	AF490768	CCDS46655.1, CCDS46656.1, CCDS46657.1, CCDS54490.1, CCDS54491.1	21q22.3	2010-08-20	2006-01-13	2006-01-13	ENSG00000160305	ENSG00000160305			17217	protein-coding gene	gene with protein product		607711	"chromosome 21 open reading frame 106"	C21orf106			Standard	NM_015151		Approved	Dip2, KIAA0184	uc002zjo.2	Q14689	OTTHUMG00000090717	ENST00000417564.2:c.2980C>T	21.37:g.47971767C>T	ENSP00000392066:p.Arg994Cys					DIP2A_ENST00000427143.2_Missense_Mutation_p.R930C|DIP2A_ENST00000417564.2_Missense_Mutation_p.R994C|DIP2A_ENST00000400274.1_Missense_Mutation_p.R990C	p.R995C	NM_001146116.1|NM_015151.3	NP_001139588.1|NP_055966.2	Q14689	DIP2A_HUMAN		Epithelial(3;3.12e-06)|OV - Ovarian serous cystadenocarcinoma(3;5.68e-06)|all cancers(3;4.08e-05)|Colorectal(79;0.0129)|COAD - Colon adenocarcinoma(84;0.0824)	25	3166	+	Breast(49;0.0933)		994					A6P4T3|B4E0F0|E7EMA5|Q8IVA3|Q8N4S2|Q8TD89|Q96ML9	Missense_Mutation	SNP	ENST00000417564.2	37	c.2983C>T	CCDS46655.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.111610	0.77210	.	.	ENSG00000160305	ENST00000400274;ENST00000427143;ENST00000318711;ENST00000417564	T;T;T;T	0.43688	0.94;0.94;0.94;0.94	5.34	3.5	0.40072	.	0.000000	0.64402	D	0.000001	T	0.65668	0.2713	M	0.83483	2.645	0.80722	D	1	D;D;P	0.89917	1.0;0.982;0.907	D;P;B	0.91635	0.999;0.853;0.339	T	0.69606	-0.5100	10	0.87932	D	0	-23.3513	12.8092	0.57629	0.427:0.573:0.0:0.0	.	995;930;994	E9PER1;E7EMA5;Q14689	.;.;DIP2A_HUMAN	C	990;930;995;994	ENSP00000383133:R990C;ENSP00000400528:R930C;ENSP00000323633:R995C;ENSP00000392066:R994C	ENSP00000323633:R995C	R	+	1	0	DIP2A	46796195	1.000000	0.71417	1.000000	0.80357	0.919000	0.55068	2.055000	0.41345	0.598000	0.29829	-0.169000	0.13324	CGT		0.662	DIP2A-012	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000376736.1	NM_015151		5	25	0	0	0	1	0	5	25					T	47971767	C	T	47971767	3	4	205	1	0	0	0	0	1	0	0	0	4527	768	27	1	3160	1	DIP2A	21	47971767	Missense_Mutation	SNP	C	TCGA-HC-7213-01A-11D-2114-08		47971767	158128	56	9465											
MAGEB6	158809	broad.mit.edu	37	chrX	26212431	26212431	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagcttcacccactggctcGcctgatgcaggtgtttcagg	6	10	13	12	1	2	1	2	1	0	0	3	2	2	2	2	4	2	4	2	4	0	2			TCGA-HC-7213-01A-11D-2114-08	TCGA-HC-7213-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	423b7b92-135d-40ff-9db4-37afd44f6094	89d60af8-dd60-4b74-88f5-779f6e026865	g.chrX:26212431G>T	ENST00000379034.1	+	2	617	c.468G>T	c.(466-468)tcG>tcT	p.S156S		NM_173523.2	NP_775794.2	Q8N7X4	MAGB6_HUMAN	melanoma antigen family B, 6	156	Ser-rich.							p.S156S(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(18)|ovary(3)|prostate(2)	33						CCACTGGCTCGCCTGATGCAG	0.507																																						ENST00000379034.1																			1	Substitution - coding silent(1)	p.S156S(1)	lung(1)	breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(18)|ovary(3)|prostate(2)	33						c.(466-468)tcG>tcT		melanoma antigen family B, 6							56	52	53					X																	26212431		2202	4300	6502	SO:0001819	synonymous_variant	158809							g.chrX:26212431G>T	AF320514	CCDS14217.1	Xp22.12	2009-03-17			ENSG00000176746	ENSG00000176746			23796	protein-coding gene	gene with protein product	"cancer/testis antigen family 3, member 4"	300467				10861452	Standard	NM_173523		Approved	FLJ40242, MAGE-B6, MAGEB6A, CT3.4	uc004dbr.3	Q8N7X4	OTTHUMG00000021285	ENST00000379034.1:c.468G>T	X.37:g.26212431G>T							p.S156S	NM_173523.2	NP_775794.2	Q8N7X4	MAGB6_HUMAN			2	617	+			156			Ser-rich.		Q6GS19|Q9H219	Silent	SNP	ENST00000379034.1	37	c.468G>T	CCDS14217.1																																																																																				0.507	MAGEB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056123.1	NM_173523		3	36	1	0	0.115264	1	0.120667	3	36					T	26212431	G	T	26212431	2	4	205	1	0	0	0	0	0	0	0	1	9179	1074	38	5		5	MAGEB6	23	26212431	Silent	SNP	G	TCGA-HC-7213-01A-11D-2114-08		26212431	129058129	57	9466											
DCAF8L2	347442	broad.mit.edu	37	chrX	27766321	27766321	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acagccacgatggcacagagCtgctagccagctacaatgat	13	6	10	12	1	0	2	0	1	0	1	0	3	0	2	2	1	6	4	2	1	3	2			TCGA-HC-7213-01A-11D-2114-08	TCGA-HC-7213-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	423b7b92-135d-40ff-9db4-37afd44f6094	89d60af8-dd60-4b74-88f5-779f6e026865	g.chrX:27766321C>A	ENST00000451261.2	+	5	1708	c.1309C>A	c.(1309-1311)Ctg>Atg	p.L437M		NM_001136533.1	NP_001130005.1	P0C7V8	DC8L2_HUMAN	DDB1 and CUL4 associated factor 8-like 2	437										central_nervous_system(1)|endometrium(9)|kidney(3)|lung(7)|pancreas(1)|skin(3)	24						TGGCACAGAGCTGCTAGCCAG	0.428																																						ENST00000451261.2																			0				central_nervous_system(1)|endometrium(9)|kidney(3)|lung(7)|pancreas(1)|skin(3)	24						c.(1309-1311)Ctg>Atg		DDB1 and CUL4 associated factor 8-like 2							152	103	118					X																	27766321		692	1591	2283	SO:0001583	missense	347442							g.chrX:27766321C>A		CCDS59162.1	Xp22.11	2013-01-09	2009-07-17	2009-07-17		ENSG00000189186		"WD repeat domain containing"	31811	protein-coding gene	gene with protein product			"WD repeat domain 42C"	WDR42C			Standard	NM_001136533		Approved		uc011mjy.2	P0C7V8		ENST00000451261.2:c.1309C>A	X.37:g.27766321C>A	ENSP00000462745:p.Leu437Met						p.L437M	NM_001136533.1	NP_001130005.1					5	1708	+								B2RXH9|J3KT06	Missense_Mutation	SNP	ENST00000451261.2	37	c.1309C>A	CCDS59162.1																																																																																				0.428	DCAF8L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056143.4	XM_293354		3	42	1	0	0.184627	1	0.187425	3	42					A	27766321	C	A	27766321	3	1	205	1	0	0	0	0	1	0	0	0	4278	796	28	5	1311	5	DCAF8L2	23	27766321	Missense_Mutation	SNP	C	TCGA-HC-7213-01A-11D-2114-08	1553890	27766321	127504239	58	9467											
ROR1	4919	broad.mit.edu	37	chr1	64515405	64515405	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accaatgaataacatcaccaCgtctctgggccagacagcag	14	6	8	13	1	2	2	1	1	1	1	3	2	2	2	3	1	2	1	3	1	3	1			TCGA-HC-7230-01A-11D-2114-08	TCGA-HC-7230-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8733559-f04a-4325-b92b-4508013a853b	3c4dfdcc-2193-4780-bd67-716947ce87f2	g.chr1:64515405C>T	ENST00000371079.1	+	3	581	c.206C>T	c.(205-207)aCg>aTg	p.T69M	ROR1_ENST00000482426.1_3'UTR|ROR1_ENST00000371080.1_Missense_Mutation_p.T69M	NM_005012.3	NP_005003.2	Q01973	ROR1_HUMAN	receptor tyrosine kinase-like orphan receptor 1	69	Ig-like C2-type.				peptidyl-tyrosine phosphorylation (GO:0018108)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|Wnt-protein binding (GO:0017147)	p.T69M(2)		breast(7)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(10)|ovary(6)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	51						AACATCACCACGTCTCTGGGC	0.547																																						ENST00000371079.1																			2	Substitution - Missense(2)	p.T69M(2)	ovary(1)|breast(1)	breast(7)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(10)|ovary(6)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	51						c.(205-207)aCg>aTg		receptor tyrosine kinase-like orphan receptor 1							139	134	136					1																	64515405		2203	4300	6503	SO:0001583	missense	4919				transmembrane receptor protein tyrosine kinase signaling pathway	cytoplasm|integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding	g.chr1:64515405C>T	M97675	CCDS626.1, CCDS41344.1	1p32-p31	2013-01-11			ENSG00000185483	ENSG00000185483		"Immunoglobulin superfamily / I-set domain containing"	10256	protein-coding gene	gene with protein product		602336		NTRKR1		1334494, 8875995	Standard	NM_001083592		Approved		uc001dbj.3	Q01973	OTTHUMG00000009022	ENST00000371079.1:c.206C>T	1.37:g.64515405C>T	ENSP00000360120:p.Thr69Met					ROR1_ENST00000482426.1_3'UTR|ROR1_ENST00000371080.1_Missense_Mutation_p.T69M	p.T69M	NM_005012.3	NP_005003.2	Q01973	ROR1_HUMAN			3	581	+			69			Ig-like C2-type.		Q5VVX6|Q66K77|Q92776	Missense_Mutation	SNP	ENST00000371079.1	37	c.206C>T	CCDS626.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.134388	0.77662	.	.	ENSG00000185483	ENST00000371080;ENST00000371079;ENST00000544776	T;T	0.67345	-0.26;-0.26	5.8	5.8	0.92144	Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.44285	D	0.000470	T	0.72550	0.3474	L	0.41079	1.255	0.80722	D	1	D;D	0.89917	0.997;1.0	P;D	0.74674	0.881;0.984	T	0.72293	-0.4336	10	0.52906	T	0.07	.	20.062	0.97678	0.0:1.0:0.0:0.0	.	69;69	Q01973;Q66K77	ROR1_HUMAN;.	M	69;69;72	ENSP00000360121:T69M;ENSP00000360120:T69M	ENSP00000360120:T69M	T	+	2	0	ROR1	64287993	0.998000	0.40836	0.972000	0.41901	0.961000	0.63080	3.803000	0.55560	2.730000	0.93505	0.563000	0.77884	ACG		0.547	ROR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025002.1	NM_005012		23	141	0	0	0	0.0918	0	23	141					T	64515405	C	T	64515405	3	4	206	1	0	0	0	0	1	0	0	0	13526	536	19	1	216	1	ROR1	1	64515405	Missense_Mutation	SNP	C	TCGA-HC-7230-01A-11D-2114-08		64515405	184735216	1	9468											
SGIP1	84251	broad.mit.edu	37	chr1	67147853	67147853	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcctcgcaatgtactatcGccgctcaatttagaagaagt	11	11	7	12	3	1	2	1	0	0	2	4	2	2	2	3	0	1	3	3	0	7	4	rs139355833		TCGA-HC-7230-01A-11D-2114-08	TCGA-HC-7230-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8733559-f04a-4325-b92b-4508013a853b	3c4dfdcc-2193-4780-bd67-716947ce87f2	g.chr1:67147853G>A	ENST00000371037.4	+	15	1193	c.1116G>A	c.(1114-1116)tcG>tcA	p.S372S	SGIP1_ENST00000371035.3_Intron|SGIP1_ENST00000237247.6_Silent_p.S376S|SGIP1_ENST00000371039.1_Intron|SGIP1_ENST00000371036.3_Intron	NM_032291.2	NP_115667.2	Q9BQI5	SGIP1_HUMAN	SH3-domain GRB2-like (endophilin) interacting protein 1	372	Pro-rich.				endocytosis (GO:0006897)|membrane tubulation (GO:0097320)|positive regulation of energy homeostasis (GO:2000507)|positive regulation of feeding behavior (GO:2000253)|positive regulation of receptor-mediated endocytosis (GO:0048260)|response to dietary excess (GO:0002021)	AP-2 adaptor complex (GO:0030122)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	microtubule binding (GO:0008017)|phospholipid binding (GO:0005543)|SH3 domain binding (GO:0017124)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(43)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	71						ATGTACTATCGCCGCTCAATT	0.542													G|||	1	0.000199681	8e-04	0	5008	,	,		17901	0		0	False		,,,				2504	0					ENST00000371037.4																			0				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(43)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	71						c.(1114-1116)tcG>tcA		SH3-domain GRB2-like (endophilin) interacting protein 1		G		3,4403	6.2+/-15.9	0,3,2200	78	96	90		1116	-1.5	1	1	dbSNP_134	90	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	SGIP1	NM_032291.2		0,5,6498	AA,AG,GG		0.0233,0.0681,0.0384		372/829	67147853	5,13001	2203	4300	6503	SO:0001819	synonymous_variant	84251				positive regulation of energy homeostasis|positive regulation of feeding behavior|positive regulation of receptor-mediated endocytosis|response to dietary excess	AP-2 adaptor complex	microtubule binding|phospholipid binding|SH3 domain binding	g.chr1:67147853G>A	AL136561	CCDS30744.1	1p31.3	2008-02-05			ENSG00000118473	ENSG00000118473			25412	protein-coding gene	gene with protein product		611540				11230166	Standard	NM_032291		Approved	DKFZp761D221	uc001dcr.3	Q9BQI5	OTTHUMG00000009161	ENST00000371037.4:c.1116G>A	1.37:g.67147853G>A						SGIP1_ENST00000371035.3_Intron|SGIP1_ENST00000371036.3_Intron|SGIP1_ENST00000371039.1_Intron|SGIP1_ENST00000237247.6_Silent_p.S376S	p.S372S	NM_032291.2	NP_115667.2	Q9BQI5	SGIP1_HUMAN			15	1193	+			372			Pro-rich.		A6NL81|A6NLD1|Q4LE32|Q5VYE2|Q5VYE3|Q5VYE4|Q68D76|Q6MZY6|Q8IWC2	Silent	SNP	ENST00000371037.4	37	c.1116G>A	CCDS30744.1																																																																																				0.542	SGIP1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000025395.4	NM_032291		4	147	0	0	0	0.014758	0	4	147					A	67147853	G	A	67147853	2	1	206	1	0	0	0	0	0	0	0	1	14206	1074	38	1		1	SGIP1	1	67147853	Silent	SNP	G	TCGA-HC-7230-01A-11D-2114-08	2632448	67147853	182102768	2	9469											
NTNG1	22854	broad.mit.edu	37	chr1	108023234	108023234	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cttccccctcattctgcagcGaatgtctgcgacaacgagct	8	10	8	15	3	3	0	1	0	2	0	4	3	4	0	2	0	5	2	2	0	2	2			TCGA-HC-7230-01A-11D-2114-08	TCGA-HC-7230-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8733559-f04a-4325-b92b-4508013a853b	3c4dfdcc-2193-4780-bd67-716947ce87f2	g.chr1:108023234G>A	ENST00000370068.1	+	8	2238	c.1392G>A	c.(1390-1392)ccG>ccA	p.P464P	NTNG1_ENST00000370066.1_Splice_Site_p.A405A|NTNG1_ENST00000370071.2_Splice_Site_p.A405A|NTNG1_ENST00000370074.4_Splice_Site_p.T363T|NTNG1_ENST00000370070.2_Splice_Site_p.A385A|NTNG1_ENST00000370072.3_Splice_Site_p.A419A|NTNG1_ENST00000370065.1_Splice_Site_p.A419A|NTNG1_ENST00000370073.2_Splice_Site_p.P464P|NTNG1_ENST00000370067.1_Splice_Site_p.A385A|NTNG1_ENST00000370061.3_Splice_Site_p.P430P|NTNG1_ENST00000542803.1_Splice_Site_p.P464P			Q9Y2I2	NTNG1_HUMAN	netrin G1	464	Laminin EGF-like 3. {ECO:0000255|PROSITE- ProRule:PRU00460}.				axonogenesis (GO:0007409)	anchored component of plasma membrane (GO:0046658)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|soft_tissue(1)|urinary_tract(1)	37		all_epithelial(167;1.39e-05)|all_lung(203;0.000115)|Lung NSC(277;0.000238)|Breast(1374;0.243)		Lung(183;0.0946)|BRCA - Breast invasive adenocarcinoma(282;0.237)|Epithelial(280;0.245)		ATTCTGCAGCGAATGTCTGCG	0.572																																						ENST00000370067.1																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|soft_tissue(1)|urinary_tract(1)	37						c.e7-1		netrin G1							18	21	20					1																	108023234		2197	4296	6493	SO:0001630	splice_region_variant	22854				axonogenesis	anchored to plasma membrane	protein binding	g.chr1:108023234G>A	AB023193	CCDS30785.1, CCDS44179.1, CCDS44180.1	1p13.2-p13.1	2013-03-01			ENSG00000162631	ENSG00000162631		"Netrins"	23319	protein-coding gene	gene with protein product	"netrin G1f", "Netrin-G1"	608818				10964959	Standard	NM_001113226		Approved	KIAA0976, Lmnt1	uc001dvh.4	Q9Y2I2	OTTHUMG00000010965	ENST00000370068.1:c.1391-1G>A	1.37:g.108023234G>A						NTNG1_ENST00000370068.1_Splice_Site_p.P464_splice|NTNG1_ENST00000542803.1_Splice_Site_p.P464_splice|NTNG1_ENST00000370071.2_Splice_Site_p.A405_splice|NTNG1_ENST00000370073.2_Splice_Site_p.P464_splice|NTNG1_ENST00000370072.3_Splice_Site_p.A419_splice|NTNG1_ENST00000370074.4_Splice_Site_p.T363_splice|NTNG1_ENST00000370070.2_Splice_Site_p.A385_splice|NTNG1_ENST00000370061.3_Splice_Site_p.P430_splice|NTNG1_ENST00000370065.1_Splice_Site_p.A419_splice|NTNG1_ENST00000370066.1_Splice_Site_p.A405_splice	p.A385_splice			Q9Y2I2	NTNG1_HUMAN		Lung(183;0.0946)|BRCA - Breast invasive adenocarcinoma(282;0.237)|Epithelial(280;0.245)	7	1782	+		all_epithelial(167;1.39e-05)|all_lung(203;0.000115)|Lung NSC(277;0.000238)|Breast(1374;0.243)	393			Laminin EGF-like 2.		Q5VU86|Q5VU87|Q5VU89|Q5VU90|Q5VU91|Q7Z2Y3|Q8N633	Splice_Site	SNP	ENST00000370068.1	37	c.1153_splice	CCDS44180.1																																																																																				0.572	NTNG1-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000030340.1	NM_014917	Silent	10	34	0	0	0	0.069234	0	10	34					A	108023234	G	A	108023234	5	1	206	1	0	0	0	0	0	0	1	0	10704	1072	37	2	1552	2	NTNG1	1	108023234	Splice_Site	SNP	G	TCGA-HC-7230-01A-11D-2114-08	40875381	108023234	141227387	3	9470											
OR10K1	391109	broad.mit.edu	37	chr1	158435743	158435743	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggccatctgtaacccactgcGctactcagtgctcatgggac	8	9	10	14	1	3	0	2	0	1	0	3	1	3	1	2	2	4	3	2	2	2	2	rs571768202		TCGA-HC-7230-01A-11D-2114-08	TCGA-HC-7230-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8733559-f04a-4325-b92b-4508013a853b	3c4dfdcc-2193-4780-bd67-716947ce87f2	g.chr1:158435743G>A	ENST00000289451.2	+	1	472	c.392G>A	c.(391-393)cGc>cAc	p.R131H		NM_001004473.1	NP_001004473.1	Q8NGX5	O10K1_HUMAN	olfactory receptor, family 10, subfamily K, member 1	131						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R131H(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	27	all_hematologic(112;0.0378)					AACCCACTGCGCTACTCAGTG	0.537													G|||	1	0.000199681	0	0	5008	,	,		21651	0		0	False		,,,				2504	0.001					ENST00000289451.2																			1	Substitution - Missense(1)	p.R131H(1)	lung(1)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	27						c.(391-393)cGc>cAc		olfactory receptor, family 10, subfamily K, member 1							217	202	207					1																	158435743		2203	4300	6503	SO:0001583	missense	391109				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158435743G>A	AP002532	CCDS30897.1	1q23.1	2012-08-09			ENSG00000173285	ENSG00000173285		"GPCR / Class A : Olfactory receptors"	14693	protein-coding gene	gene with protein product							Standard	NM_001004473		Approved		uc010pij.2	Q8NGX5	OTTHUMG00000017517	ENST00000289451.2:c.392G>A	1.37:g.158435743G>A	ENSP00000289451:p.Arg131His						p.R131H	NM_001004473.1	NP_001004473.1	Q8NGX5	O10K1_HUMAN			1	472	+	all_hematologic(112;0.0378)		131					Q6IFS2	Missense_Mutation	SNP	ENST00000289451.2	37	c.392G>A	CCDS30897.1	.	.	.	.	.	.	.	.	.	.	g	0.675	-0.800257	0.02841	.	.	ENSG00000173285	ENST00000289451	T	0.00669	5.9	4.5	-1.76	0.08006	GPCR, rhodopsin-like superfamily (1);	0.502354	0.16830	N	0.197805	T	0.00178	0.0005	N	0.16862	0.45	0.09310	N	1	B	0.15141	0.012	B	0.09377	0.004	T	0.19976	-1.0289	10	0.08837	T	0.75	.	11.9741	0.53081	0.5943:0.0:0.4057:0.0	.	131	Q8NGX5	O10K1_HUMAN	H	131	ENSP00000289451:R131H	ENSP00000289451:R131H	R	+	2	0	OR10K1	156702367	0.000000	0.05858	0.031000	0.17742	0.007000	0.05969	-0.628000	0.05515	-0.961000	0.03609	-2.049000	0.00408	CGC		0.537	OR10K1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046367.1			5	195	0	0	0	0.014758	0	5	195					A	158435743	G	A	158435743	3	1	206	1	0	0	0	0	1	0	0	0	10913	1087	38	1	394	1	OR10K1	1	158435743	Missense_Mutation	SNP	G	TCGA-HC-7230-01A-11D-2114-08	50412509	158435743	90814878	4	9471											
KIAA1804	84451	broad.mit.edu	37	chr1	233518097	233518097	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggagcctctgcactgccactCtgcccctcacctgctcctca	5	9	7	20	0	4	0	2	0	2	0	5	1	5	1	6	1	5	2	6	1	0	0			TCGA-HC-7230-01A-11D-2114-08	TCGA-HC-7230-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8733559-f04a-4325-b92b-4508013a853b	3c4dfdcc-2193-4780-bd67-716947ce87f2	g.chr1:233518097C>G	ENST00000366624.3	+	10	3012	c.2751C>G	c.(2749-2751)ctC>ctG	p.L917L	MLK4_ENST00000366622.1_Silent_p.L363L	NM_032435.2	NP_115811.2																					CACTGCCACTCTGCCCCTCAC	0.532																																						ENST00000366624.3																			0											c.(2749-2751)ctC>ctG									76	72	74					1																	233518097		2203	4300	6503	SO:0001819	synonymous_variant	0							g.chr1:233518097C>G																												ENST00000366624.3:c.2751C>G	1.37:g.233518097C>G						MLK4_ENST00000366622.1_Silent_p.L363L	p.L917L	NM_032435.2	NP_115811.2					10	3012	+									Silent	SNP	ENST00000366624.3	37	c.2751C>G	CCDS1598.1																																																																																				0.532	MLK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092495.1			3	113	0	0	0	0.150653	0	3	113					G	233518097	C	G	233518097	2	3	206	1	0	0	0	0	0	0	0	1	8259	900	32	5		5	KIAA1804	1	233518097	Silent	SNP	C	TCGA-HC-7230-01A-11D-2114-08	75082354	233518097	15732524	5	9472											
TUBA4A	7277	broad.mit.edu	37	chr2	220116307	220116307	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagcttgcggatccgatccaGcactgggtcaatgatctcct	8	10	10	13	2	2	1	1	1	1	0	5	3	4	2	3	2	3	2	3	2	1	1			TCGA-HC-7230-01A-11D-2114-08	TCGA-HC-7230-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8733559-f04a-4325-b92b-4508013a853b	3c4dfdcc-2193-4780-bd67-716947ce87f2	g.chr2:220116307G>A	ENST00000248437.4	-	3	528	c.355C>T	c.(355-357)Ctg>Ttg	p.L119L	TUBA4B_ENST00000490341.1_RNA|TUBA4A_ENST00000392088.2_Silent_p.L104L|TUBA4A_ENST00000498660.1_5'UTR	NM_006000.2	NP_005991.1	P68366	TBA4A_HUMAN	tubulin, alpha 4a	119					'de novo' posttranslational protein folding (GO:0051084)|blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based process (GO:0007017)|mitotic cell cycle (GO:0000278)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	20		Renal(207;0.0474)		Epithelial(149;1.16e-06)|all cancers(144;0.000191)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	Cabazitaxel(DB06772)|Podofilox(DB01179)|Vincristine(DB00541)	ATCCGATCCAGCACTGGGTCA	0.502																																						ENST00000392088.2																			0				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	20						c.(310-312)Ctg>Ttg		tubulin, alpha 4a							117	101	106					2																	220116307		2203	4300	6503	SO:0001819	synonymous_variant	7277				'de novo' posttranslational protein folding|G2/M transition of mitotic cell cycle|microtubule-based movement|platelet activation|platelet degranulation|protein polymerization	cytosol|extracellular region|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity	g.chr2:220116307G>A	AK054731	CCDS2438.1, CCDS63131.1	2q36.1	2012-10-02	2007-02-12	2007-02-12	ENSG00000127824	ENSG00000127824		"Tubulins"	12407	protein-coding gene	gene with protein product		191110	"tubulin, alpha 1 (testis specific)", "tubulin, alpha 1"	TUBA1		3785200	Standard	NM_006000		Approved	FLJ30169, H2-ALPHA	uc002vkt.1	P68366	OTTHUMG00000133126	ENST00000248437.4:c.355C>T	2.37:g.220116307G>A						TUBA4A_ENST00000498660.1_5'UTR|TUBA4A_ENST00000248437.4_Silent_p.L119L	p.L104L	NM_001278552.1	NP_001265481.1	P68366	TBA4A_HUMAN		Epithelial(149;1.16e-06)|all cancers(144;0.000191)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	3	865	-		Renal(207;0.0474)	119					A8MUB1|B3KNQ6|P05215	Silent	SNP	ENST00000248437.4	37	c.310C>T	CCDS2438.1																																																																																				0.502	TUBA4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256816.3	NM_006000		3	109	0	0	0	0.014758	0	3	109					A	220116307	G	A	220116307	2	1	206	1	0	0	0	0	0	0	0	1	16746	962	34	3		3	TUBA4A	2	220116307	Silent	SNP	G	TCGA-HC-7230-01A-11D-2114-08		220116307	23083066	6	9473											
EFHD1	80303	broad.mit.edu	37	chr2	233546303	233546303	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atttctctgcaggtccaagcCttgtcatcggccagtaagtt	8	13	9	11	1	2	0	1	0	1	0	5	0	3	0	3	2	2	3	3	2	2	4			TCGA-HC-7230-01A-11D-2114-08	TCGA-HC-7230-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8733559-f04a-4325-b92b-4508013a853b	3c4dfdcc-2193-4780-bd67-716947ce87f2	g.chr2:233546303C>T	ENST00000264059.3	+	4	1071	c.594C>T	c.(592-594)gcC>gcT	p.A198A	EFHD1_ENST00000409708.1_Silent_p.A86A|EFHD1_ENST00000409613.1_Silent_p.A102A|snoU13_ENST00000459149.1_RNA|EFHD1_ENST00000410095.1_Silent_p.A86A	NM_025202.3	NP_079478.1	Q9BUP0	EFHD1_HUMAN	EF-hand domain family, member D1	198					neuron projection development (GO:0031175)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|large_intestine(2)|lung(3)	7		all_hematologic(139;0.0123)|Acute lymphoblastic leukemia(138;0.0182)|Breast(86;0.0199)|Renal(207;0.025)		Epithelial(121;2.08e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000383)|LUSC - Lung squamous cell carcinoma(224;0.00825)|Lung(119;0.0101)		AGGTCCAAGCCTTGTCATCGG	0.572																																						ENST00000264059.3																			0				NS(1)|breast(1)|large_intestine(2)|lung(3)	7						c.(592-594)gcC>gcT		EF-hand domain family, member D1							163	149	154					2																	233546303		2203	4300	6503	SO:0001819	synonymous_variant	80303						calcium ion binding|protein binding	g.chr2:233546303C>T		CCDS2497.1, CCDS58755.1	2q37.1	2014-07-01	2005-01-25		ENSG00000115468	ENSG00000115468		"EF-hand domain containing"	29556	protein-coding gene	gene with protein product	"swiprosin-2"	611617	"EF hand domain containing 1"			21244694	Standard	NM_025202		Approved	FLJ13612	uc002vtc.3	Q9BUP0	OTTHUMG00000133263	ENST00000264059.3:c.594C>T	2.37:g.233546303C>T						EFHD1_ENST00000409613.1_Silent_p.A102A|EFHD1_ENST00000410095.1_Silent_p.A86A|EFHD1_ENST00000409708.1_Silent_p.A86A	p.A198A	NM_025202.3	NP_079478.1	Q9BUP0	EFHD1_HUMAN		Epithelial(121;2.08e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000383)|LUSC - Lung squamous cell carcinoma(224;0.00825)|Lung(119;0.0101)	4	1071	+		all_hematologic(139;0.0123)|Acute lymphoblastic leukemia(138;0.0182)|Breast(86;0.0199)|Renal(207;0.025)	198					B2RD83|E9PFH3|Q9BTF8|Q9H8I2|Q9HBQ0	Silent	SNP	ENST00000264059.3	37	c.594C>T	CCDS2497.1																																																																																				0.572	EFHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257040.2	NM_025202		79	130	0	0	0	0.139131	0	79	130					T	233546303	C	T	233546303	2	4	206	1	0	0	0	0	0	0	0	1	4948	668	24	3		3	EFHD1	2	233546303	Silent	SNP	C	TCGA-HC-7230-01A-11D-2114-08	13429996	233546303	9653070	7	9474											
GIGYF2	26058	broad.mit.edu	37	chr2	233620985	233620987	+	In_Frame_Del	DEL	GAG	GAG	-																															tgtcctgcgattgacaggacGaggaggaggaggaacagtgg																										TCGA-HC-7230-01A-11D-2114-08	TCGA-HC-7230-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8733559-f04a-4325-b92b-4508013a853b	3c4dfdcc-2193-4780-bd67-716947ce87f2	g.chr2:233620985_233620987delGAG	ENST00000409547.1	+	8	631_633	c.320_322delGAG	c.(319-324)cgagga>cga	p.G111del	GIGYF2_ENST00000409196.3_In_Frame_Del_p.G111del|GIGYF2_ENST00000373563.4_In_Frame_Del_p.G111del|GIGYF2_ENST00000409480.1_In_Frame_Del_p.G111del|GIGYF2_ENST00000373566.3_In_Frame_Del_p.G111del|GIGYF2_ENST00000409451.3_In_Frame_Del_p.G111del	NM_015575.3	NP_056390.2	Q6Y7W6	PERQ2_HUMAN	GRB10 interacting GYF protein 2	111	Poly-Gly.				adult locomotory behavior (GO:0008344)|cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|feeding behavior (GO:0007631)|homeostasis of number of cells within a tissue (GO:0048873)|insulin-like growth factor receptor signaling pathway (GO:0048009)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|musculoskeletal movement (GO:0050881)|negative regulation of translation (GO:0017148)|neuromuscular process controlling balance (GO:0050885)|post-embryonic development (GO:0009791)|spinal cord motor neuron differentiation (GO:0021522)	membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)	p.G108R(2)		NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(17)|lung(11)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	63		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145)		TTGACAGGACGAGGAGGAGGAGG	0.424																																						ENST00000373566.3																			2	Substitution - Missense(2)	p.G108R(2)	endometrium(2)	NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(17)|lung(11)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	63						c.(319-324)cga>c		GRB10 interacting GYF protein 2																																				SO:0001651	inframe_deletion	26058				cell death		protein binding	g.chr2:233620985_233620987delGAG	U80751	CCDS33401.1, CCDS46542.1, CCDS46543.1	2q37.1	2011-07-06	2008-02-11	2008-02-11	ENSG00000204120	ENSG00000204120		"Trinucleotide (CAG) repeat containing"	11960	protein-coding gene	gene with protein product	"GYF domain containing 2"	612003	"PERQ amino acid rich, with GYF domain 2", "PERQ amino acid rich, with GYF domain 3", "trinucleotide repeat containing 15", "Parkinson disease (autosomal recessive, early onset) 11"	PERQ2, PERQ3, TNRC15, PARK11		9225980, 9734811, 12771153, 18358451, 19279319	Standard	NM_015575		Approved	KIAA0642, GYF2	uc002vtk.4	Q6Y7W6	OTTHUMG00000153237	ENST00000409547.1:c.320_322delGAG	2.37:g.233620994_233620996delGAG	ENSP00000386537:p.Gly111del					GIGYF2_ENST00000409451.3_In_Frame_Del_p.RG107del|GIGYF2_ENST00000409196.3_In_Frame_Del_p.RG107del|GIGYF2_ENST00000373563.4_In_Frame_Del_p.RG107del|GIGYF2_ENST00000409480.1_In_Frame_Del_p.RG107del|GIGYF2_ENST00000409547.1_In_Frame_Del_p.RG107del	p.RG107del			Q6Y7W6	PERQ2_HUMAN		Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145)	6	517_519	+		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)	107			Poly-Gly.		A6H8W4|B9EG55|E9PBB0|O75137|Q7Z2Z8|Q7Z3I2|Q96HU4|Q9NV82	In_Frame_Del	DEL	ENST00000409547.1	37	c.320_322delGAG	CCDS33401.1																																																																																				0.424	GIGYF2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000330316.2	NM_001103146		7	118						7	118	---	---	---	---	-	233620987	GAG	-	233620985	7	5	206	1	0	1	0	1	0	0	0	0	6378	1058	37	0	334	0	GIGYF2	2	233620985	In_Frame_Del	DEL	GAG	TCGA-HC-7230-01A-11D-2114-08	74682	233620985	9578388	8	9475											
TRIM42	287015	broad.mit.edu	37	chr3	140406902	140406902	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgaggacggcatccagaccAcctacaggcctgacccacag	11	4	10	16	2	0	2	0	1	0	1	2	4	1	3	5	3	1	1	5	3	1	1			TCGA-HC-7230-01A-11D-2114-08	TCGA-HC-7230-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8733559-f04a-4325-b92b-4508013a853b	3c4dfdcc-2193-4780-bd67-716947ce87f2	g.chr3:140406902A>G	ENST00000286349.3	+	3	1569	c.1378A>G	c.(1378-1380)Acc>Gcc	p.T460A		NM_152616.4	NP_689829.3	Q8IWZ5	TRI42_HUMAN	tripartite motif containing 42	460	COS. {ECO:0000255|PROSITE- ProRule:PRU00586}.					intracellular (GO:0005622)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(11)|lung(33)|ovary(2)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						CATCCAGACCACCTACAGGCC	0.577																																						ENST00000286349.3																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(11)|lung(33)|ovary(2)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						c.(1378-1380)Acc>Gcc		tripartite motif containing 42							74	58	64					3																	140406902		2203	4300	6503	SO:0001583	missense	287015					intracellular	zinc ion binding	g.chr3:140406902A>G	AF521868	CCDS3113.1	3q23	2014-02-17	2011-01-25		ENSG00000155890	ENSG00000155890		"Tripartite motif containing / Tripartite motif containing", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "Fibronectin type III domain containing", "RING-type (C3HC4) zinc fingers"	19014	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 40"		"tripartite motif-containing 42"				Standard	NM_152616		Approved	FLJ40097, PPP1R40	uc003eto.2	Q8IWZ5	OTTHUMG00000160170	ENST00000286349.3:c.1378A>G	3.37:g.140406902A>G	ENSP00000286349:p.Thr460Ala						p.T460A	NM_152616.4	NP_689829.3	Q8IWZ5	TRI42_HUMAN			3	1569	+			460			COS.		A1L4B4|Q8N832|Q8NDL3	Missense_Mutation	SNP	ENST00000286349.3	37	c.1378A>G	CCDS3113.1	.	.	.	.	.	.	.	.	.	.	A	13.00	2.106172	0.37145	.	.	ENSG00000155890	ENST00000286349	T	0.37752	1.18	5.63	5.63	0.86233	COS domain (1);	0.580733	0.17344	N	0.177659	T	0.29850	0.0746	N	0.24115	0.695	0.32381	N	0.554565	P	0.49961	0.93	P	0.46110	0.504	T	0.24657	-1.0154	10	0.27082	T	0.32	-14.2668	12.5296	0.56106	1.0:0.0:0.0:0.0	.	460	Q8IWZ5	TRI42_HUMAN	A	460	ENSP00000286349:T460A	ENSP00000286349:T460A	T	+	1	0	TRIM42	141889592	1.000000	0.71417	0.995000	0.50966	0.282000	0.26991	5.763000	0.68818	2.281000	0.76405	0.533000	0.62120	ACC		0.577	TRIM42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359531.2	NM_152616		6	52	0	0	0	0.02938	0	6	52					G	140406902	A	G	140406902	3	3	206	1	0	0	0	0	1	0	0	0	16514	159	6	4	1388	4	TRIM42	3	140406902	Missense_Mutation	SNP	A	TCGA-HC-7230-01A-11D-2114-08		140406902	57615528	9	9476											
ATP11B	23200	broad.mit.edu	37	chr3	182602674	182602674	+	Frame_Shift_Del	DEL	T	T	-																															atagctacccttgtacagtaTtttttttataaggtgagttt																										TCGA-HC-7230-01A-11D-2114-08	TCGA-HC-7230-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8733559-f04a-4325-b92b-4508013a853b	3c4dfdcc-2193-4780-bd67-716947ce87f2	g.chr3:182602674delT	ENST00000323116.5	+	22	2903	c.2643delT	c.(2641-2643)tatfs	p.Y881fs		NM_014616.2	NP_055431.1	Q9Y2G3	AT11B_HUMAN	ATPase, class VI, type 11B	881					aminophospholipid transport (GO:0015917)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|phospholipid translocation (GO:0045332)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear inner membrane (GO:0005637)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|ion transmembrane transporter activity (GO:0015075)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)	p.Y884fs*30(1)		breast(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|liver(2)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	41	all_cancers(143;9.04e-15)|Ovarian(172;0.0355)		all cancers(12;1.2e-42)|Epithelial(37;2.77e-36)|LUSC - Lung squamous cell carcinoma(7;7.58e-24)|Lung(8;4.66e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.35e-20)			TTGTACAGTATTTTTTTTATA	0.269																																						ENST00000323116.5																			1	Deletion - Frameshift(1)	p.Y884fs*30(1)	large_intestine(1)	breast(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|liver(2)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	41						c.(2641-2643)tafs		ATPase, class VI, type 11B							60	64	63					3																	182602674		2202	4298	6500	SO:0001589	frameshift_variant	23200				aminophospholipid transport|ATP biosynthetic process	integral to membrane|nuclear inner membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr3:182602674delT	AF156548	CCDS33896.1	3q27	2010-04-20	2007-09-19		ENSG00000058063	ENSG00000058063		"ATPases / P-type"	13553	protein-coding gene	gene with protein product		605869	"ATPase, Class VI, type 11B"			10231032, 11015572	Standard	NM_014616		Approved	ATPIF, ATPIR, KIAA0956	uc003flb.3	Q9Y2G3	OTTHUMG00000158295	ENST00000323116.5:c.2643delT	3.37:g.182602674delT	ENSP00000321195:p.Tyr881fs						p.Y881fs	NM_014616.2	NP_055431.1	Q9Y2G3	AT11B_HUMAN	all cancers(12;1.2e-42)|Epithelial(37;2.77e-36)|LUSC - Lung squamous cell carcinoma(7;7.58e-24)|Lung(8;4.66e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.35e-20)		22	2903	+	all_cancers(143;9.04e-15)|Ovarian(172;0.0355)		881					Q96FN1|Q9UKK7	Frame_Shift_Del	DEL	ENST00000323116.5	37	c.2643delT	CCDS33896.1																																																																																				0.269	ATP11B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350598.1	NM_014616		7	83						7	83	---	---	---	---	-	182602674	T	-	182602674	7	5	206	1	0	1	0	1	0	0	0	0	1120	1500	52	0	2729	0	ATP11B	3	182602674	Frame_Shift_Del	DEL	T	TCGA-HC-7230-01A-11D-2114-08	42195772	182602674	15419756	10	9477											
DLG1	1739	broad.mit.edu	37	chr3	196867046	196867046	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgggcggctgctccccctgtGataattttggtaatgaaaat	9	13	11	8	1	0	2	0	2	0	0	1	2	1	2	2	3	1	3	2	3	4	4			TCGA-HC-7230-01A-11D-2114-08	TCGA-HC-7230-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8733559-f04a-4325-b92b-4508013a853b	3c4dfdcc-2193-4780-bd67-716947ce87f2	g.chr3:196867046G>C	ENST00000419354.1	-	9	1063	c.777C>G	c.(775-777)atC>atG	p.I259M	DLG1_ENST00000452595.1_Missense_Mutation_p.I143M|DLG1_ENST00000450955.1_Missense_Mutation_p.I226M|DLG1_ENST00000357674.4_Missense_Mutation_p.I226M|DLG1_ENST00000448528.2_Missense_Mutation_p.I259M|DLG1_ENST00000443183.1_Missense_Mutation_p.I143M|DLG1_ENST00000422288.1_Missense_Mutation_p.I208M|DLG1_ENST00000346964.2_Missense_Mutation_p.I259M|DLG1_ENST00000392382.2_Missense_Mutation_p.I226M|DLG1_ENST00000314062.3_Missense_Mutation_p.I208M			Q12959	DLG1_HUMAN	discs, large homolog 1 (Drosophila)	259	PDZ 1. {ECO:0000255|PROSITE- ProRule:PRU00143}.				actin filament organization (GO:0007015)|activation of protein kinase activity (GO:0032147)|amyloid precursor protein metabolic process (GO:0042982)|axon guidance (GO:0007411)|branching involved in ureteric bud morphogenesis (GO:0001658)|cortical actin cytoskeleton organization (GO:0030866)|dephosphorylation (GO:0016311)|embryonic skeletal system morphogenesis (GO:0048704)|endothelial cell proliferation (GO:0001935)|establishment or maintenance of cell polarity (GO:0007163)|hard palate development (GO:0060022)|immunological synapse formation (GO:0001771)|lens development in camera-type eye (GO:0002088)|membrane raft organization (GO:0031579)|mitotic cell cycle checkpoint (GO:0007093)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of T cell proliferation (GO:0042130)|nucleotide phosphorylation (GO:0046939)|peristalsis (GO:0030432)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell proliferation (GO:0008284)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of potassium ion transport (GO:0043268)|protein localization to plasma membrane (GO:0072659)|regulation of membrane potential (GO:0042391)|regulation of myelination (GO:0031641)|regulation of sodium ion transmembrane transport (GO:1902305)|reproductive structure development (GO:0048608)|single organismal cell-cell adhesion (GO:0016337)|smooth muscle tissue development (GO:0048745)|synaptic transmission (GO:0007268)|T cell activation (GO:0042110)|T cell cytokine production (GO:0002369)|tight junction assembly (GO:0070830)|viral process (GO:0016032)	basal lamina (GO:0005605)|basolateral plasma membrane (GO:0016323)|cell junction (GO:0030054)|cell projection membrane (GO:0031253)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|immunological synapse (GO:0001772)|intercalated disc (GO:0014704)|lateral loop (GO:0043219)|lateral plasma membrane (GO:0016328)|membrane raft (GO:0045121)|microtubule (GO:0005874)|MPP7-DLG1-LIN7 complex (GO:0097025)|myelin sheath abaxonal region (GO:0035748)|neuromuscular junction (GO:0031594)|node of Ranvier (GO:0033268)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|tight junction (GO:0005923)	cytoskeletal protein binding (GO:0008092)|guanylate kinase activity (GO:0004385)|ion channel binding (GO:0044325)|L27 domain binding (GO:0097016)|mitogen-activated protein kinase kinase binding (GO:0031434)|phosphatase binding (GO:0019902)|phosphoprotein phosphatase activity (GO:0004721)|potassium channel regulator activity (GO:0015459)|protein C-terminus binding (GO:0008022)|protein kinase binding (GO:0019901)			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|liver(1)|lung(9)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	26	all_cancers(143;6.22e-10)|Ovarian(172;0.0418)|Breast(254;0.0589)	Lung NSC(153;0.133)	Epithelial(36;3.23e-24)|all cancers(36;2.15e-22)|OV - Ovarian serous cystadenocarcinoma(49;3.88e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.0148)		CTCCCCCTGTGATAATTTTGG	0.443																																						ENST00000346964.2																			0				breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|liver(1)|lung(9)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	26						c.(775-777)atC>atG		discs, large homolog 1 (Drosophila)							138	133	135					3																	196867046		2203	4300	6503	SO:0001583	missense	1739				actin filament organization|axon guidance|cell-cell adhesion|cortical actin cytoskeleton organization|endothelial cell proliferation|establishment or maintenance of cell polarity|interspecies interaction between organisms|mitotic cell cycle G1/S transition checkpoint|negative regulation of mitotic cell cycle|protein localization in plasma membrane|synaptic transmission|tight junction assembly	basolateral plasma membrane|cytosol|endoplasmic reticulum membrane|immunological synapse|MPP7-DLG1-LIN7 complex|nucleus|postsynaptic density|postsynaptic membrane|sarcolemma|tight junction	cytoskeletal protein binding|guanylate kinase activity|L27 domain binding|phosphatase binding|phosphoprotein phosphatase activity|potassium channel regulator activity|protein binding|protein C-terminus binding|protein kinase binding	g.chr3:196867046G>C	U13897	CCDS3327.1, CCDS43194.1, CCDS56300.1, CCDS56301.1, CCDS75072.1	3q29	2008-12-15	2001-11-28		ENSG00000075711	ENSG00000075711			2900	protein-coding gene	gene with protein product	"discs large homolog 1", "presynaptic protein SAP97", "synapse-associated protein 97"	601014	"discs, large (Drosophila) homolog 1"			7937897, 8825652	Standard	NM_004087		Approved	SAP97, SAP-97, hdlg, DLGH1, dJ1061C18.1.1	uc003fxn.4	Q12959	OTTHUMG00000047972	ENST00000419354.1:c.777C>G	3.37:g.196867046G>C	ENSP00000407531:p.Ile259Met					DLG1_ENST00000357674.4_Missense_Mutation_p.I226M|DLG1_ENST00000452595.1_Missense_Mutation_p.I143M|DLG1_ENST00000443183.1_Missense_Mutation_p.I143M|DLG1_ENST00000448528.2_Missense_Mutation_p.I259M|DLG1_ENST00000450955.1_Missense_Mutation_p.I226M|DLG1_ENST00000422288.1_Missense_Mutation_p.I208M|DLG1_ENST00000392382.2_Missense_Mutation_p.I226M|DLG1_ENST00000419354.1_Missense_Mutation_p.I259M|DLG1_ENST00000314062.3_Missense_Mutation_p.I208M	p.I259M	NM_004087.2	NP_004078.2	Q12959	DLG1_HUMAN	Epithelial(36;3.23e-24)|all cancers(36;2.15e-22)|OV - Ovarian serous cystadenocarcinoma(49;3.88e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.0148)	9	966	-	all_cancers(143;6.22e-10)|Ovarian(172;0.0418)|Breast(254;0.0589)	Lung NSC(153;0.133)	259			PDZ 1.		A5YKK7|B4DGU1|B4DGZ8|B7ZMM0|B9EIQ5|D3DXB8|D3DXB9|E7EWL7|E9PG21|Q12958	Missense_Mutation	SNP	ENST00000419354.1	37	c.777C>G	CCDS43194.1	.	.	.	.	.	.	.	.	.	.	G	16.72	3.201117	0.58234	.	.	ENSG00000075711	ENST00000346964;ENST00000359922;ENST00000357674;ENST00000381807;ENST00000314062;ENST00000419354;ENST00000452595;ENST00000422288;ENST00000448528;ENST00000443183;ENST00000392382;ENST00000450955;ENST00000447466;ENST00000453607	T;T;T;T;T;T;T;T;T;T;T;T	0.25250	1.81;1.81;1.81;1.81;1.81;1.81;1.81;1.81;1.81;1.81;1.81;1.81	5.47	3.29	0.37713	PDZ/DHR/GLGF (4);	0.000000	0.85682	D	0.000000	T	0.41994	0.1183	M	0.75615	2.305	0.49130	D	0.999759	P;D;D;D;D;D;D	0.89917	0.867;1.0;0.999;0.999;1.0;0.999;1.0	P;D;D;D;D;D;D	0.91635	0.732;0.996;0.999;0.999;0.999;0.988;0.999	T	0.32375	-0.9909	10	0.33141	T	0.24	.	2.8322	0.05503	0.4315:0.0:0.1388:0.4297	.	226;143;143;143;226;259;259	Q12959-4;E9PG21;E7EWL7;B4DGU1;Q12959-3;Q12959;Q12959-2	.;.;.;.;.;DLG1_HUMAN;.	M	259;259;226;259;208;259;143;208;259;143;226;226;68;112	ENSP00000345731:I259M;ENSP00000350303:I226M;ENSP00000321087:I208M;ENSP00000407531:I259M;ENSP00000398939:I143M;ENSP00000413238:I208M;ENSP00000391732:I259M;ENSP00000396658:I143M;ENSP00000376187:I226M;ENSP00000411278:I226M;ENSP00000398702:I68M;ENSP00000412579:I112M	ENSP00000321087:I208M	I	-	3	3	DLG1	198351443	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	0.757000	0.26433	0.568000	0.29311	0.591000	0.81541	ATC		0.443	DLG1-008	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000258170.2	NM_004087		3	148	0	0	0	0.115264	0	3	148					C	196867046	G	C	196867046	3	2	206	1	0	0	0	0	1	0	0	0	4554	1280	45	5	2113	5	DLG1	3	196867046	Missense_Mutation	SNP	G	TCGA-HC-7230-01A-11D-2114-08	14264372	196867046	1155384	11	9478											
BOD1L	259282	broad.mit.edu	37	chr4	13610162	13610162	+	Frame_Shift_Del	DEL	T	T	-																															taaaatatgtaccttgaatcTttttttctctttttgcttaa																										TCGA-HC-7230-01A-11D-2114-08	TCGA-HC-7230-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8733559-f04a-4325-b92b-4508013a853b	3c4dfdcc-2193-4780-bd67-716947ce87f2	g.chr4:13610162delT	ENST00000040738.5	-	8	1869	c.1734delA	c.(1732-1734)aaafs	p.K578fs		NM_148894.2	NP_683692.2	Q8NFC6	BD1L1_HUMAN	biorientation of chromosomes in cell division 1-like 1	578	Lys-rich.					nucleus (GO:0005634)	DNA binding (GO:0003677)										ACCTTGAATCTTTTTTTCTCT	0.358																																						ENST00000040738.5																			0											c.(1732-1734)aafs		biorientation of chromosomes in cell division 1-like 1							58	60	59					4																	13610162		2201	4295	6496	SO:0001589	frameshift_variant	259282						DNA binding	g.chr4:13610162delT	AF528529	CCDS3411.2	4p16.1	2012-04-10	2012-04-10	2012-04-10	ENSG00000038219	ENSG00000038219			31792	protein-coding gene	gene with protein product			"family with sequence similarity 44, member A", "biorientation of chromosomes in cell division 1-like"	FAM44A, BOD1L			Standard	XM_005248150		Approved	FLJ33215, KIAA1327	uc003gmz.1	Q8NFC6	OTTHUMG00000090659	ENST00000040738.5:c.1734delA	4.37:g.13610162delT	ENSP00000040738:p.Lys578fs						p.K578fs	NM_148894.2	NP_683692.2	Q8NFC6	BOD1L_HUMAN			8	1869	-			578			Lys-rich.		Q6P0M8|Q96AL1|Q9H6G0|Q9NTD6|Q9P2L9	Frame_Shift_Del	DEL	ENST00000040738.5	37	c.1734delA	CCDS3411.2																																																																																				0.358	BOD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207321.1	NM_148894		3	4						3	4	---	---	---	---	-	13610162	T	-	13610162	7	5	206	1	0	1	0	1	0	0	0	0	1483	1606	56	0	7497	0	BOD1L	4	13610162	Frame_Shift_Del	DEL	T	TCGA-HC-7230-01A-11D-2114-08		13610162	177544114	12	9479											
TNPO1	3842	broad.mit.edu	37	chr5	72195834	72195834	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtgattgcgttaccttagcAataacaattggtcgtcttgg	9	14	10	8	3	1	1	0	1	1	0	2	1	1	1	1	2	4	2	1	2	5	6			TCGA-HC-7230-01A-11D-2114-08	TCGA-HC-7230-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8733559-f04a-4325-b92b-4508013a853b	3c4dfdcc-2193-4780-bd67-716947ce87f2	g.chr5:72195834A>G	ENST00000337273.5	+	21	2766	c.2340A>G	c.(2338-2340)gcA>gcG	p.A780A	TNPO1_ENST00000523768.1_Splice_Site_p.A730A|TNPO1_ENST00000506351.2_Splice_Site_p.A772A|TNPO1_ENST00000454282.1_Splice_Site_p.A730A	NM_002270.3	NP_002261.3	Q92973	TNPO1_HUMAN	transportin 1	780					gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|protein import into nucleus, translocation (GO:0000060)|RNA metabolic process (GO:0016070)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	nuclear localization sequence binding (GO:0008139)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(10)|lung(6)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	36		Lung NSC(167;0.0053)|Ovarian(174;0.0175)		OV - Ovarian serous cystadenocarcinoma(47;6.14e-54)		TTACCTTAGCAATAACAATTG	0.398																																						ENST00000337273.5																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(10)|lung(6)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	36						c.e21-1		transportin 1							252	202	219					5																	72195834		2203	4300	6503	SO:0001630	splice_region_variant	3842				interspecies interaction between organisms|mRNA metabolic process|protein import into nucleus, translocation	cytosol|nucleus	nuclear localization sequence binding|protein binding|protein transporter activity	g.chr5:72195834A>G	U70322	CCDS4016.1, CCDS43329.1	5q13.1	2009-01-12	2004-01-29	2004-01-30	ENSG00000083312	ENSG00000083312		"Importins"	6401	protein-coding gene	gene with protein product	"importin 2"	602901	"karyopherin (importin) beta 2"	KPNB2		8808633, 9144189	Standard	NM_153188		Approved	MIP, TRN, IPO2, MIP1	uc003kci.4	Q92973	OTTHUMG00000100967	ENST00000337273.5:c.2339-1A>G	5.37:g.72195834A>G						TNPO1_ENST00000523768.1_Splice_Site_p.A730_splice|TNPO1_ENST00000454282.1_Splice_Site_p.A730_splice|TNPO1_ENST00000506351.2_Splice_Site_p.A772_splice	p.A780_splice	NM_002270.3	NP_002261.3	Q92973	TNPO1_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;6.14e-54)	21	2766	+		Lung NSC(167;0.0053)|Ovarian(174;0.0175)	780					B4DVC6|Q92957|Q92975	Splice_Site	SNP	ENST00000337273.5	37	c.2338_splice	CCDS43329.1																																																																																				0.398	TNPO1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000218577.3	NM_002270	Silent	41	69	0	0	0	0.11126	0	41	69					G	72195834	A	G	72195834	5	3	206	1	0	0	0	0	0	0	1	0	16332	144	5	4	2422	4	TNPO1	5	72195834	Splice_Site	SNP	A	TCGA-HC-7230-01A-11D-2114-08		72195834	108719426	13	9480											
DCP2	167227	broad.mit.edu	37	chr5	112343668	112343668	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggggaaatggcagaaaacagTatcaagattcacctaatcaa	18	7	9	7	0	3	2	3	0	0	2	3	3	3	3	1	3	1	2	1	3	7	3			TCGA-HC-7230-01A-11D-2114-08	TCGA-HC-7230-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8733559-f04a-4325-b92b-4508013a853b	3c4dfdcc-2193-4780-bd67-716947ce87f2	g.chr5:112343668T>C	ENST00000389063.2	+	9	1174	c.976T>C	c.(976-978)Tat>Cat	p.Y326H	DCP2_ENST00000543319.1_Missense_Mutation_p.Y115H|DCP2_ENST00000515408.1_Intron	NM_152624.5	NP_689837	Q8IU60	DCP2_HUMAN	decapping mRNA 2	326					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|histone mRNA catabolic process (GO:0071044)|mRNA catabolic process (GO:0006402)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|nucleus (GO:0005634)|RISC complex (GO:0016442)	exoribonuclease activity, producing 5'-phosphomonoesters (GO:0016896)|m7G(5')pppN diphosphatase activity (GO:0050072)|manganese ion binding (GO:0030145)|RNA binding (GO:0003723)			endometrium(3)|large_intestine(6)|lung(1)	10		all_cancers(142;4.41e-05)|all_epithelial(76;3.65e-07)|Colorectal(10;0.00115)|Prostate(80;0.00133)|Ovarian(225;0.0443)		OV - Ovarian serous cystadenocarcinoma(64;6.98e-08)|Epithelial(69;7.87e-08)|all cancers(49;1.06e-05)|COAD - Colon adenocarcinoma(37;0.0123)|Colorectal(14;0.0171)		CAGAAAACAGTATCAAGATTC	0.343																																						ENST00000389063.2																			0				endometrium(3)|large_intestine(6)|lung(1)	10						c.(976-978)Tat>Cat		decapping mRNA 2							94	92	93					5																	112343668		2202	4300	6502	SO:0001583	missense	167227				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|histone mRNA catabolic process|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytoplasmic mRNA processing body|cytosol|nucleus|RNA-induced silencing complex	exoribonuclease activity, producing 5'-phosphomonoesters|manganese ion binding|protein binding|RNA binding	g.chr5:112343668T>C	AY135173	CCDS34210.1, CCDS56377.1	5q22	2013-05-02	2013-05-02		ENSG00000172795	ENSG00000172795	3.6.1.62	"Nudix motif containing"	24452	protein-coding gene	gene with protein product	"nudix (nucleoside diphosphate linked moiety X)-type motif 20", "M(7)GpppN-mRNA hydrolase"	609844	"DCP2 decapping enzyme homolog (S. cerevisiae)"			12218187, 12417715	Standard	NM_152624		Approved	NUDT20	uc003kqh.3	Q8IU60	OTTHUMG00000162853	ENST00000389063.2:c.976T>C	5.37:g.112343668T>C	ENSP00000373715:p.Tyr326His					DCP2_ENST00000515408.1_Intron|DCP2_ENST00000543319.1_Missense_Mutation_p.Y115H	p.Y326H	NM_152624.5	NP_689837.2	Q8IU60	DCP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;6.98e-08)|Epithelial(69;7.87e-08)|all cancers(49;1.06e-05)|COAD - Colon adenocarcinoma(37;0.0123)|Colorectal(14;0.0171)	9	1174	+		all_cancers(142;4.41e-05)|all_epithelial(76;3.65e-07)|Colorectal(10;0.00115)|Prostate(80;0.00133)|Ovarian(225;0.0443)	326					C9J778|Q6P2D4|Q7Z5W5|Q8NBG5	Missense_Mutation	SNP	ENST00000389063.2	37	c.976T>C	CCDS34210.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	12.34|12.34	1.909053|1.909053	0.33721|0.33721	.|.	.|.	ENSG00000172795|ENSG00000172795	ENST00000513585|ENST00000389063;ENST00000543319	.|T	.|0.42900	.|0.96	5.61|5.61	5.61|5.61	0.85477|0.85477	.|.	.|0.347271	.|0.29565	.|N	.|0.011792	T|T	0.19765|0.19765	0.0475|0.0475	N|N	0.11560|0.11560	0.145|0.145	0.31164|0.31164	N|N	0.70399|0.70399	.|B	.|0.06786	.|0.001	.|B	.|0.04013	.|0.001	T|T	0.18840|0.18840	-1.0324|-1.0324	5|10	.|0.15066	.|T	.|0.55	.|.	5.3669|5.3669	0.16119|0.16119	0.197:0.0814:0.0:0.7216|0.197:0.0814:0.0:0.7216	.|.	.|326	.|Q8IU60	.|DCP2_HUMAN	A|H	307|326;115	.|ENSP00000373715:Y326H	.|ENSP00000373715:Y326H	V|Y	+|+	2|1	0|0	DCP2|DCP2	112371567|112371567	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	1.441000|1.441000	0.35035|0.35035	2.136000|2.136000	0.66102|0.66102	0.477000|0.477000	0.44152|0.44152	GTA|TAT		0.343	DCP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370765.3	NM_152624		28	41	0	0	0	0.144211	0	28	41					C	112343668	T	C	112343668	3	2	206	1	0	0	0	0	1	0	0	0	4300	1638	57	4	1010	4	DCP2	5	112343668	Missense_Mutation	SNP	T	TCGA-HC-7230-01A-11D-2114-08	40147834	112343668	68571592	14	9481											
CDC23	8697	broad.mit.edu	37	chr5	137524750	137524750	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gagtgaagcaggtaggaaaaAgggagcaggcacctcggtgg	13	4	18	6	1	0	1	0	1	0	0	1	4	0	3	1	6	2	4	1	6	4	1			TCGA-HC-7230-01A-11D-2114-08	TCGA-HC-7230-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8733559-f04a-4325-b92b-4508013a853b	3c4dfdcc-2193-4780-bd67-716947ce87f2	g.chr5:137524750A>G	ENST00000394886.2	-	16	1741	c.1711T>C	c.(1711-1713)Ttt>Ctt	p.F571L		NM_004661.3	NP_004652.2	Q9UJX2	CDC23_HUMAN	cell division cycle 23	571					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cell cycle (GO:0000278)|mitotic metaphase plate congression (GO:0007080)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of exit from mitosis (GO:0007096)|regulation of mitotic metaphase/anaphase transition (GO:0030071)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|ubiquitin-dependent protein catabolic process (GO:0006511)	anaphase-promoting complex (GO:0005680)|cytosol (GO:0005829)|intracellular (GO:0005622)|nucleoplasm (GO:0005654)	ubiquitin-protein transferase activity (GO:0004842)			autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(6)|prostate(2)|skin(1)	23			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			GGTAGGAAAAAGGGAGCAGGC	0.532																																						ENST00000394886.2																			0				autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(6)|prostate(2)|skin(1)	23						c.(1711-1713)Ttt>Ctt		cell division cycle 23							204	185	191					5																	137524750		2203	4300	6503	SO:0001583	missense	8697				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|G1 phase of mitotic cell cycle|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase plate congression|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination|regulation of exit from mitosis	anaphase-promoting complex|cytosol|nucleoplasm	binding|ubiquitin-protein ligase activity	g.chr5:137524750A>G	AF053977	CCDS4200.2	5q31	2013-01-17	2013-01-17		ENSG00000094880	ENSG00000094880		"Anaphase promoting complex subunits", "Tetratricopeptide (TTC) repeat domain containing"	1724	protein-coding gene	gene with protein product	"anaphase promoting complex subunit 8"	603462	"CDC23 (cell division cycle 23, yeast, homolog)", "cell division cycle 23 homolog (S. cerevisiae)"			9790767	Standard	NM_004661		Approved	APC8, ANAPC8, CUT23	uc003lcl.3	Q9UJX2	OTTHUMG00000129198	ENST00000394886.2:c.1711T>C	5.37:g.137524750A>G	ENSP00000378350:p.Phe571Leu						p.F571L	NM_004661.3	NP_004652.2	Q9UJX2	CDC23_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)		16	1741	-			571					A8K6E5|B4E3A2|B7WP05|D3DQB7|O75433|Q53FN2|Q9BS73	Missense_Mutation	SNP	ENST00000394886.2	37	c.1711T>C	CCDS4200.2	.	.	.	.	.	.	.	.	.	.	A	7.213	0.595865	0.13875	.	.	ENSG00000094880	ENST00000394886	T	0.40225	1.04	5.29	5.29	0.74685	.	0.117044	0.64402	D	0.000014	T	0.16085	0.0387	N	0.00926	-1.1	0.80722	D	1	B	0.14012	0.009	B	0.09377	0.004	T	0.18053	-1.0349	10	0.10111	T	0.7	-20.9996	15.3818	0.74664	1.0:0.0:0.0:0.0	.	571	Q9UJX2	CDC23_HUMAN	L	571	ENSP00000378350:F571L	ENSP00000378350:F571L	F	-	1	0	CDC23	137552649	1.000000	0.71417	0.996000	0.52242	0.358000	0.29455	4.545000	0.60698	2.225000	0.72522	0.379000	0.24179	TTT		0.532	CDC23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251275.2			3	89	0	0	0	0.150653	0	3	89					G	137524750	A	G	137524750	3	3	206	1	0	0	0	0	1	0	0	0	3061	72	3	4	86	4	CDC23	5	137524750	Missense_Mutation	SNP	A	TCGA-HC-7230-01A-11D-2114-08	25181082	137524750	43390510	15	9482											
PCDHB13	56123	broad.mit.edu	37	chr5	140595972	140595972	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgtgtctggcaggaggctcAgggaccaatgagttcaagtt	9	10	15	7	0	3	1	2	1	1	0	3	3	3	3	1	4	0	4	1	4	2	2			TCGA-HC-7230-01A-11D-2114-08	TCGA-HC-7230-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8733559-f04a-4325-b92b-4508013a853b	3c4dfdcc-2193-4780-bd67-716947ce87f2	g.chr5:140595972A>G	ENST00000341948.4	+	1	2464	c.2277A>G	c.(2275-2277)tcA>tcG	p.S759S		NM_018933.2	NP_061756.1	Q9Y5F0	PCDBD_HUMAN	protocadherin beta 13	759					calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(4)|lung(24)|ovary(5)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	66			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CAGGAGGCTCAGGGACCAATG	0.552																																						ENST00000341948.4																			0				NS(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(4)|lung(24)|ovary(5)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	66						c.(2275-2277)tcA>tcG									120	120	120					5																	140595972		2203	4300	6503	SO:0001819	synonymous_variant	0				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140595972A>G	AF152492	CCDS4255.1	5q31	2010-01-26			ENSG00000187372	ENSG00000187372		"Cadherins / Protocadherins : Clustered"	8684	other	protocadherin		606339				10380929	Standard	NM_018933		Approved	PCDH-BETA13	uc003lja.1	Q9Y5F0	OTTHUMG00000129615	ENST00000341948.4:c.2277A>G	5.37:g.140595972A>G							p.S759S	NM_018933.2	NP_061756.1	Q9Y5F0	PCDBD_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	2464	+			759					A8K9V6	Silent	SNP	ENST00000341948.4	37	c.2277A>G	CCDS4255.1																																																																																				0.552	PCDHB13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251810.1	NM_018933		3	127	0	0	0	0.150653	0	3	127					G	140595972	A	G	140595972	2	3	206	1	0	0	0	0	0	0	0	1	11538	175	7	4		4	PCDHB13	5	140595972	Silent	SNP	A	TCGA-HC-7230-01A-11D-2114-08	3071222	140595972	40319288	16	9483											
RASGEF1C	255426	broad.mit.edu	37	chr5	179564990	179564990	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgttcgccatctgtgggctcGgtggggggtgggctgaggct	2	11	20	8	2	1	1	0	1	1	0	3	1	1	1	1	7	0	4	1	7	0	1			TCGA-HC-7230-01A-11D-2114-08	TCGA-HC-7230-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8733559-f04a-4325-b92b-4508013a853b	3c4dfdcc-2193-4780-bd67-716947ce87f2	g.chr5:179564990G>A	ENST00000393371.2	-	1	359	c.63C>T	c.(61-63)acC>acT	p.T21T	RASGEF1C_ENST00000519883.1_5'Flank|RASGEF1C_ENST00000361132.4_Silent_p.T21T|RASGEF1C_ENST00000522500.1_5'Flank			Q8N431	RGF1C_HUMAN	RasGEF domain family, member 1C	21					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	intracellular (GO:0005622)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|stomach(1)	12	all_cancers(89;3.44e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	all_cancers(40;0.0242)|Medulloblastoma(196;0.00498)|all_neural(177;0.0137)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CTGTGGGCTCGGTGGGGGGTG	0.652																																						ENST00000393371.2																			0				breast(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|stomach(1)	12						c.(61-63)acC>acT		RasGEF domain family, member 1C							51	50	50					5																	179564990		2203	4299	6502	SO:0001819	synonymous_variant	255426				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	guanyl-nucleotide exchange factor activity	g.chr5:179564990G>A	AK093160	CCDS4452.1	5q35.3	2005-08-16			ENSG00000146090	ENSG00000146090			27400	protein-coding gene	gene with protein product						12477932	Standard	XM_006714839		Approved	FLJ35841	uc003mlr.3	Q8N431	OTTHUMG00000130914	ENST00000393371.2:c.63C>T	5.37:g.179564990G>A						RASGEF1C_ENST00000361132.4_Silent_p.T21T	p.T21T			Q8N431	RGF1C_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		1	359	-	all_cancers(89;3.44e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	all_cancers(40;0.0242)|Medulloblastoma(196;0.00498)|all_neural(177;0.0137)	21					D3DWQ7|Q7Z4T0|Q8NA49	Silent	SNP	ENST00000393371.2	37	c.63C>T	CCDS4452.1																																																																																				0.652	RASGEF1C-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253506.2	NM_175062		9	97	0	0	0	0.09319	0	9	97					A	179564990	G	A	179564990	2	1	206	1	0	0	0	0	0	0	0	1	13071	1103	39	2		2	RASGEF1C	5	179564990	Silent	SNP	G	TCGA-HC-7230-01A-11D-2114-08	38969018	179564990	1350270	17	9484											
LGSN	51557	broad.mit.edu	37	chr6	63995626	63995626	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tctagaagagagttgaggtgGggtcaaaatttgactgctgt	11	12	14	4	0	2	4	1	2	1	2	2	5	2	4	0	3	1	2	0	3	4	3			TCGA-HC-7230-01A-11D-2114-08	TCGA-HC-7230-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8733559-f04a-4325-b92b-4508013a853b	3c4dfdcc-2193-4780-bd67-716947ce87f2	g.chr6:63995626G>T	ENST00000370657.4	-	3	229	c.196C>A	c.(196-198)Cca>Aca	p.P66T	LGSN_ENST00000370658.5_Missense_Mutation_p.P66T			Q5TDP6	LGSN_HUMAN	lengsin, lens protein with glutamine synthetase domain	66					glutamine biosynthetic process (GO:0006542)	plasma membrane (GO:0005886)	glutamate-ammonia ligase activity (GO:0004356)			NS(1)|endometrium(2)|large_intestine(5)|lung(16)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						AGTTGAGGTGGGGTCAAAATT	0.438																																						ENST00000370658.5																			0				NS(1)|endometrium(2)|large_intestine(5)|lung(16)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						c.(196-198)Cca>Aca		lengsin, lens protein with glutamine synthetase domain	L-Glutamic Acid(DB00142)						104	96	99					6																	63995626		2203	4300	6503	SO:0001583	missense	51557				glutamine biosynthetic process		glutamate-ammonia ligase activity	g.chr6:63995626G>T	AF242388	CCDS4964.1, CCDS55027.1	6q12	2013-09-19	2008-09-19	2008-09-19	ENSG00000146166	ENSG00000146166			21016	protein-coding gene	gene with protein product		611470	"glutamate-ammonia ligase (glutamine synthetase) domain containing 1"	GLULD1		12107412	Standard	NM_016571		Approved	LGS	uc003peh.3	Q5TDP6	OTTHUMG00000014946	ENST00000370657.4:c.196C>A	6.37:g.63995626G>T	ENSP00000359691:p.Pro66Thr					LGSN_ENST00000370657.4_Missense_Mutation_p.P66T	p.P66T	NM_001143940.1|NM_016571.2	NP_001137412.1|NP_057655.2	Q5TDP6	LGSN_HUMAN			3	229	-			66					A1L421|Q0PVN9|Q0PVP0|Q9NYJ0	Missense_Mutation	SNP	ENST00000370657.4	37	c.196C>A	CCDS4964.1	.	.	.	.	.	.	.	.	.	.	G	2.176	-0.388613	0.04932	.	.	ENSG00000146166	ENST00000370658;ENST00000370657	T;T	0.23147	1.92;2.01	5.61	-0.0578	0.13800	.	0.859656	0.10751	N	0.638282	T	0.05364	0.0142	L	0.43152	1.355	0.09310	N	1	B;B	0.18610	0.029;0.0	B;B	0.17722	0.019;0.002	T	0.42799	-0.9430	10	0.18710	T	0.47	0.6153	2.8202	0.05469	0.0977:0.1485:0.3246:0.4292	.	66;66	Q5TDP6-2;Q5TDP6	.;LGSN_HUMAN	T	66	ENSP00000359692:P66T;ENSP00000359691:P66T	ENSP00000359691:P66T	P	-	1	0	LGSN	64053585	0.638000	0.27225	0.012000	0.15200	0.353000	0.29299	0.793000	0.26944	-0.243000	0.09653	-0.274000	0.10170	CCA		0.438	LGSN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041076.2	NM_016571		3	65	1	0	0.00024832	0.150653	0.000255961	3	65					T	63995626	G	T	63995626	3	4	206	1	0	0	0	0	1	0	0	0	8759	1232	43	5	1341	5	LGSN	6	63995626	Missense_Mutation	SNP	G	TCGA-HC-7230-01A-11D-2114-08		63995626	107119441	18	9485											
FNDC1	84624	broad.mit.edu	37	chr6	159636159	159636159	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttccactgacaagagatgaaCggacacacgaaattaaaaag	19	6	8	8	2	0	3	0	2	0	1	1	6	1	4	1	1	1	0	1	1	6	2	rs202140596		TCGA-HC-7230-01A-11D-2114-08	TCGA-HC-7230-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8733559-f04a-4325-b92b-4508013a853b	3c4dfdcc-2193-4780-bd67-716947ce87f2	g.chr6:159636159C>T	ENST00000297267.9	+	5	843	c.643C>T	c.(643-645)Cgg>Tgg	p.R215W	FNDC1_ENST00000340366.6_Missense_Mutation_p.R215W	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	215	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cellular response to hypoxia (GO:0071456)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of protein phosphorylation (GO:0001934)|regulation of protein transport (GO:0051223)	cell-cell junction (GO:0005911)|extracellular region (GO:0005576)|mitochondrial membrane (GO:0031966)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		AAGAGATGAACGGACACACGA	0.443																																						ENST00000297267.9																			0				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93						c.(643-645)Cgg>Tgg		fibronectin type III domain containing 1							95	97	96					6																	159636159		1900	4118	6018	SO:0001583	missense	84624					extracellular region		g.chr6:159636159C>T	AB058769	CCDS47512.1	6q25	2013-02-11			ENSG00000164694	ENSG00000164694		"Fibronectin type III domain containing"	21184	protein-coding gene	gene with protein product		609991	"fibronectin type III domain containing 2"	FNDC2		11347906	Standard	NM_032532		Approved	bA243O10.1, KIAA1866, dJ322A24.1	uc010kjv.3	Q4ZHG4	OTTHUMG00000015927	ENST00000297267.9:c.643C>T	6.37:g.159636159C>T	ENSP00000297267:p.Arg215Trp					FNDC1_ENST00000340366.6_Missense_Mutation_p.R215W	p.R215W	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)	5	843	+		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)	215			Fibronectin type-III 2.		A6H8X2|B7ZBR4|B7ZBR5|B9EK49|Q5JPI0|Q5VU31|Q5VU32|Q5VXX4|Q70CQ6|Q96JG1	Missense_Mutation	SNP	ENST00000297267.9	37	c.643C>T	CCDS47512.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.01|17.01	3.278464|3.278464	0.59758|0.59758	.|.	.|.	ENSG00000164694|ENSG00000164694	ENST00000297267;ENST00000340366|ENST00000329629	T;T|.	0.55052|.	0.54;0.54|.	6.06|6.06	4.24|4.24	0.50183|0.50183	Fibronectin, type III (3);Immunoglobulin-like fold (1);|.	0.077037|.	0.53938|.	D|.	0.000046|.	T|T	0.36908|0.36908	0.0984|0.0984	L|L	0.39245|0.39245	1.2|1.2	0.34253|0.34253	D|D	0.679045|0.679045	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.91635|.	0.999;0.995|.	T|T	0.23655|0.23655	-1.0182|-1.0182	10|5	0.87932|.	D|.	0|.	-22.1651|-22.1651	14.254|14.254	0.66038|0.66038	0.2796:0.7204:0.0:0.0|0.2796:0.7204:0.0:0.0	.|.	215;215|.	Q4ZHG4-2;Q4ZHG4|.	.;FNDC1_HUMAN|.	W|M	215|173	ENSP00000297267:R215W;ENSP00000342460:R215W|.	ENSP00000297267:R215W|.	R|T	+|+	1|2	2|0	FNDC1|FNDC1	159556147|159556147	0.843000|0.843000	0.29541|0.29541	0.961000|0.961000	0.40146|0.40146	0.974000|0.974000	0.67602|0.67602	0.805000|0.805000	0.27112|0.27112	0.830000|0.830000	0.34757|0.34757	0.655000|0.655000	0.94253|0.94253	CGG|ACG		0.443	FNDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042897.3	NM_032532		4	108	0	0	0	0.150653	0	4	108					T	159636159	C	T	159636159	3	4	206	1	0	0	0	0	1	0	0	0	5968	527	19	1	661	1	FNDC1	6	159636159	Missense_Mutation	SNP	C	TCGA-HC-7230-01A-11D-2114-08	95640533	159636159	11478908	19	9486											
ANKIB1	54467	broad.mit.edu	37	chr7	92020490	92020490	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttactatagacagacctagAaatggtcactgaagaccttg	14	10	8	9	0	1	5	1	1	0	4	1	5	1	5	2	1	1	0	2	1	6	5			TCGA-HC-7230-01A-11D-2114-08	TCGA-HC-7230-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8733559-f04a-4325-b92b-4508013a853b	3c4dfdcc-2193-4780-bd67-716947ce87f2	g.chr7:92020490A>G	ENST00000265742.3	+	16	2439	c.2063A>G	c.(2062-2064)gAa>gGa	p.E688G		NM_019004.1	NP_061877.1	Q9P2G1	AKIB1_HUMAN	ankyrin repeat and IBR domain containing 1	688							zinc ion binding (GO:0008270)			cervix(1)|endometrium(7)|kidney(3)|large_intestine(10)|lung(19)|skin(1)	41	all_cancers(62;2.06e-09)|all_epithelial(64;9.24e-09)|Breast(17;0.0034)|all_lung(186;0.0509)|Lung NSC(181;0.0692)		STAD - Stomach adenocarcinoma(171;6.16e-05)|all cancers(6;0.00183)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			ACAGACCTAGAAATGGTCACT	0.428																																						ENST00000265742.3																			0				cervix(1)|endometrium(7)|kidney(3)|large_intestine(10)|lung(19)|skin(1)	41						c.(2062-2064)gAa>gGa		ankyrin repeat and IBR domain containing 1							78	77	77					7																	92020490		1902	4116	6018	SO:0001583	missense	54467						protein binding|zinc ion binding	g.chr7:92020490A>G	AB037807	CCDS47639.1	7q21.3	2013-01-10			ENSG00000001629	ENSG00000001629		"Ankyrin repeat domain containing"	22215	protein-coding gene	gene with protein product							Standard	NM_019004		Approved	DKFZP434A0225, KIAA1386	uc003ulw.2	Q9P2G1	OTTHUMG00000155859	ENST00000265742.3:c.2063A>G	7.37:g.92020490A>G	ENSP00000265742:p.Glu688Gly						p.E688G	NM_019004.1	NP_061877.1	Q9P2G1	AKIB1_HUMAN	STAD - Stomach adenocarcinoma(171;6.16e-05)|all cancers(6;0.00183)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)		16	2439	+	all_cancers(62;2.06e-09)|all_epithelial(64;9.24e-09)|Breast(17;0.0034)|all_lung(186;0.0509)|Lung NSC(181;0.0692)		688					Q6GMS4|Q6P3S9|Q9NTD7|Q9NW49	Missense_Mutation	SNP	ENST00000265742.3	37	c.2063A>G	CCDS47639.1	.	.	.	.	.	.	.	.	.	.	A	28.1	4.890410	0.91889	.	.	ENSG00000001629	ENST00000265742	T	0.21932	1.98	5.34	5.34	0.76211	.	0.049211	0.85682	D	0.000000	T	0.52741	0.1753	M	0.87758	2.905	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.61768	-0.6995	10	0.87932	D	0	.	15.6161	0.76769	1.0:0.0:0.0:0.0	.	688	Q9P2G1	AKIB1_HUMAN	G	688	ENSP00000265742:E688G	ENSP00000265742:E688G	E	+	2	0	ANKIB1	91858426	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.287000	0.95975	2.145000	0.66743	0.460000	0.39030	GAA		0.428	ANKIB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342018.1			14	87	0	0	0	0.160694	0	14	87					G	92020490	A	G	92020490	3	3	206	1	0	0	0	0	1	0	0	0	630	246	9	4	2121	4	ANKIB1	7	92020490	Missense_Mutation	SNP	A	TCGA-HC-7230-01A-11D-2114-08		92020490	67118173	20	9487											
MMP16	4325	broad.mit.edu	37	chr8	89058941	89058941	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cctgaggagattcagggatcCctttccagactgtgattggc	8	11	12	10	0	1	4	1	2	0	2	3	6	3	5	3	3	0	0	3	3	0	3			TCGA-HC-7230-01A-11D-2114-08	TCGA-HC-7230-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8733559-f04a-4325-b92b-4508013a853b	3c4dfdcc-2193-4780-bd67-716947ce87f2	g.chr8:89058941C>T	ENST00000286614.6	-	9	1726	c.1445G>A	c.(1444-1446)gGg>gAg	p.G482E		NM_005941.4	NP_005932.2	P51512	MMP16_HUMAN	matrix metallopeptidase 16 (membrane-inserted)	482					chondrocyte proliferation (GO:0035988)|collagen catabolic process (GO:0030574)|craniofacial suture morphogenesis (GO:0097094)|embryonic cranial skeleton morphogenesis (GO:0048701)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of catalytic activity (GO:0043085)	Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|enzyme activator activity (GO:0008047)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(51)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	81					Marimastat(DB00786)	TTCAGGGATCCCTTTCCAGAC	0.373																																						ENST00000286614.6																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(51)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	81						c.(1444-1446)gGg>gAg		matrix metallopeptidase 16 (membrane-inserted)							174	162	166					8																	89058941		2203	4300	6503	SO:0001583	missense	4325				collagen catabolic process|proteolysis	cell surface|integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding	g.chr8:89058941C>T	D85511	CCDS6246.1	8q21	2009-01-09	2005-08-08		ENSG00000156103	ENSG00000156103			7162	protein-coding gene	gene with protein product		602262	"matrix metalloproteinase 16 (membrane-inserted)", "chromosome 8 open reading frame 57"	C8orf57		7559440	Standard	NM_005941		Approved	MT3-MMP, DKFZp761D112	uc003yeb.4	P51512	OTTHUMG00000163769	ENST00000286614.6:c.1445G>A	8.37:g.89058941C>T	ENSP00000286614:p.Gly482Glu						p.G482E	NM_005941.4	NP_005932.2	P51512	MMP16_HUMAN			9	1726	-			482			Hemopexin-like 3.		B2RAN7|Q14824|Q52H48	Missense_Mutation	SNP	ENST00000286614.6	37	c.1445G>A	CCDS6246.1	.	.	.	.	.	.	.	.	.	.	C	34	5.297149	0.95574	.	.	ENSG00000156103	ENST00000286614	T	0.04156	3.69	5.82	5.82	0.92795	Hemopexin/matrixin (2);	0.000000	0.85682	D	0.000000	T	0.40767	0.1130	H	0.98426	4.23	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	T	0.63501	-0.6623	10	0.87932	D	0	.	20.0856	0.97800	0.0:1.0:0.0:0.0	.	482	P51512	MMP16_HUMAN	E	482	ENSP00000286614:G482E	ENSP00000286614:G482E	G	-	2	0	MMP16	89128057	1.000000	0.71417	0.956000	0.39512	0.997000	0.91878	7.772000	0.85439	2.734000	0.93682	0.655000	0.94253	GGG		0.373	MMP16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375304.2	NM_005941		7	75	0	0	0	0.058154	0	7	75					T	89058941	C	T	89058941	3	4	206	1	0	0	0	0	1	0	0	0	9655	623	22	3	386	3	MMP16	8	89058941	Missense_Mutation	SNP	C	TCGA-HC-7230-01A-11D-2114-08		89058941	57305081	21	9488											
PTEN	5728	broad.mit.edu	37	chr10	89692849	89692849	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tgtgaagatcttgaccaatgGctaagtgaagatgacaatca	15	10	10	6	0	2	6	1	4	1	2	2	6	2	6	1	1	0	1	1	1	5	2			TCGA-HC-7230-01A-11D-2114-08	TCGA-HC-7230-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8733559-f04a-4325-b92b-4508013a853b	3c4dfdcc-2193-4780-bd67-716947ce87f2	g.chr10:89692849G>A	ENST00000371953.3	+	5	1690	c.333G>A	c.(331-333)tgG>tgA	p.W111*		NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	111	Phosphatase tensin-type. {ECO:0000255|PROSITE-ProRule:PRU00590}.				activation of mitotic anaphase-promoting complex activity (GO:0007092)|aging (GO:0007568)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|brain morphogenesis (GO:0048854)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle tissue development (GO:0048738)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|central nervous system myelin maintenance (GO:0032286)|central nervous system neuron axonogenesis (GO:0021955)|dendritic spine morphogenesis (GO:0060997)|dentate gyrus development (GO:0021542)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|innate immune response (GO:0045087)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|learning or memory (GO:0007611)|locomotor rhythm (GO:0045475)|locomotory behavior (GO:0007626)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|male mating behavior (GO:0060179)|maternal behavior (GO:0042711)|memory (GO:0007613)|multicellular organismal response to stress (GO:0033555)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell aging (GO:0090344)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031658)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myelination (GO:0031642)|negative regulation of organ growth (GO:0046621)|negative regulation of phagocytosis (GO:0050765)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of ribosome biogenesis (GO:0090071)|negative regulation of synaptic vesicle clustering (GO:2000808)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell proliferation (GO:0008284)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|postsynaptic density assembly (GO:0097107)|prepulse inhibition (GO:0060134)|presynaptic membrane assembly (GO:0097105)|prostate gland growth (GO:0060736)|protein dephosphorylation (GO:0006470)|protein kinase B signaling (GO:0043491)|protein stabilization (GO:0050821)|regulation of B cell apoptotic process (GO:0002902)|regulation of cellular component size (GO:0032535)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of neuron projection development (GO:0010975)|regulation of protein stability (GO:0031647)|response to arsenic-containing substance (GO:0046685)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse maturation (GO:0060074)|T cell receptor signaling pathway (GO:0050852)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|myelin sheath adaxonal region (GO:0035749)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)	anaphase-promoting complex binding (GO:0010997)|enzyme binding (GO:0019899)|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity (GO:0051717)|lipid binding (GO:0008289)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity (GO:0051800)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.0?(37)|p.R55fs*1(5)|p.?(5)|p.Y27fs*1(2)|p.F56fs*2(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		TTGACCAATGGCTAAGTGAAG	0.393		31	"D, Mis, N, F, S"		"glioma,  prostate, endometrial"	"harmartoma, glioma,  prostate, endometrial"			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																												ENST00000371953.3		31	yes	Rec	yes	"Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"	10	10q23.3	5728	"D, Mis, N, F, S"	phosphatase and tensin homolog gene			"L, E, M, O"		"harmartoma, glioma,  prostate, endometrial"	"glioma,  prostate, endometrial"		50	Whole gene deletion(37)|Deletion - Frameshift(8)|Unknown(5)	p.0?(37)|p.R55fs*1(5)|p.?(5)|p.Y27fs*1(2)|p.F56fs*2(1)	prostate(16)|central_nervous_system(11)|skin(6)|lung(5)|haematopoietic_and_lymphoid_tissue(4)|breast(3)|ovary(3)|soft_tissue(1)|urinary_tract(1)	NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771						c.(331-333)tgG>tgA		phosphatase and tensin homolog							127	118	121					10																	89692849		2203	4297	6500	SO:0001587	stop_gained	5728	Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	Familial Cancer Database	Incl.: Encephalocraniocutaneous Lipomatosis, ECCL, Proteus-like s.;incl.: Juvenile Polyposis of the Stomach;HMPS1, Colorectal Adenoma Carcinoma syndrome, CRAC, CRAC1;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;subset of PTEN-Hamartoma Tumor Syndrome; incl.: Ruvalcaba-Myhre-Smith s.	activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr10:89692849G>A	U92436	CCDS31238.1	10q23	2014-09-17	2008-07-31		ENSG00000171862	ENSG00000171862		"Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"	9588	protein-coding gene	gene with protein product	"mutated in multiple advanced cancers 1"	601728		BZS, MHAM		9090379	Standard	NM_000314		Approved	MMAC1, TEP1, PTEN1	uc001kfb.3	P60484	OTTHUMG00000018688	ENST00000371953.3:c.333G>A	10.37:g.89692849G>A	ENSP00000361021:p.Trp111*	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)					p.W111*	NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)	5	1690	+		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	111			Phosphatase tensin-type.		B2R904|F2YHV0|O00633|O02679|Q6ICT7	Nonsense_Mutation	SNP	ENST00000371953.3	37	c.333G>A	CCDS31238.1	.	.	.	.	.	.	.	.	.	.	G	48	14.202966	0.99784	.	.	ENSG00000171862	ENST00000371953	.	.	.	5.07	5.07	0.68467	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-3.635	18.4584	0.90729	0.0:0.0:1.0:0.0	.	.	.	.	X	111	.	.	W	+	3	0	PTEN	89682829	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.425000	0.97467	2.318000	0.78349	0.655000	0.94253	TGG		0.393	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1	NM_000314		19	86	0	0	0	0.055883	0	19	86					A	89692849	G	A	89692849	4	1	206	1	0	0	0	0	0	1	0	0	12738	1212	42	3	351	3	PTEN	10	89692849	Nonsense_Mutation	SNP	G	TCGA-HC-7230-01A-11D-2114-08		89692849	45841898	22	9489											
RAG1	5896	broad.mit.edu	37	chr11	36597480	36597480	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tttgtgagttaattccttccGaggagaggcacgaggctctg	8	12	13	8	2	1	2	0	1	1	1	3	5	3	2	2	3	0	3	2	3	1	4	rs145772007	byFrequency	TCGA-HC-7230-01A-11D-2114-08	TCGA-HC-7230-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8733559-f04a-4325-b92b-4508013a853b	3c4dfdcc-2193-4780-bd67-716947ce87f2	g.chr11:36597480G>A	ENST00000299440.5	+	2	2738	c.2626G>A	c.(2626-2628)Gag>Aag	p.E876K		NM_000448.2	NP_000439	P15918	RAG1_HUMAN	recombination activating gene 1	876					adaptive immune response (GO:0002250)|B cell differentiation (GO:0030183)|DNA recombination (GO:0006310)|histone monoubiquitination (GO:0010390)|immune response (GO:0006955)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of thymocyte apoptotic process (GO:0070244)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|pre-B cell allelic exclusion (GO:0002331)|protein autoubiquitination (GO:0051865)|regulation of T cell differentiation (GO:0045580)|T cell differentiation in thymus (GO:0033077)|T cell homeostasis (GO:0043029)|thymus development (GO:0048538)|V(D)J recombination (GO:0033151)	nucleus (GO:0005634)	acid-amino acid ligase activity (GO:0016881)|DNA binding (GO:0003677)|endonuclease activity (GO:0004519)|histone binding (GO:0042393)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding (GO:0043565)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	65	all_lung(20;0.226)	all_hematologic(20;0.107)				AATTCCTTCCGAGGAGAGGCA	0.483									Familial Hemophagocytic Lymphohistiocytosis																												Pancreas(43;321 1249 3212 48200)|Esophageal Squamous(38;49 1003 17530 24363)	ENST00000299440.5																			0				NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	65						c.(2626-2628)Gag>Aag		recombination activating gene 1		G	LYS/GLU	1,4403	2.1+/-5.4	0,1,2201	138	132	134		2626	-2.2	0	11	dbSNP_134	134	3,8593	3.0+/-9.4	0,3,4295	yes	missense	RAG1	NM_000448.2	56	0,4,6496	AA,AG,GG		0.0349,0.0227,0.0308	benign	876/1044	36597480	4,12996	2202	4298	6500	SO:0001583	missense	5896	Familial Hemophagocytic Lymphohistiocytosis	Familial Cancer Database	FHLH, FHL, Familial Hemophagocytic Reticulosis, FHR	histone monoubiquitination|immune response|pre-B cell allelic exclusion|protein autoubiquitination|T cell differentiation in thymus|V(D)J recombination	nucleus	endonuclease activity|histone binding|protein homodimerization activity|sequence-specific DNA binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr11:36597480G>A	M29474	CCDS7902.1	11p13	2014-09-17				ENSG00000166349		"RING-type (C3HC4) zinc fingers"	9831	protein-coding gene	gene with protein product	"recombination activating protein 1", "RING finger protein 74", "V(D)J recombination-activating protein 1"	179615				1612612, 1283330	Standard	NM_000448		Approved	RNF74, MGC43321	uc001mwu.4	P15918		ENST00000299440.5:c.2626G>A	11.37:g.36597480G>A	ENSP00000299440:p.Glu876Lys						p.E876K	NM_000448.2	NP_000439.1	P15918	RAG1_HUMAN			2	2738	+	all_lung(20;0.226)	all_hematologic(20;0.107)	876					E9PPC4|Q8IY72|Q8NER2	Missense_Mutation	SNP	ENST00000299440.5	37	c.2626G>A	CCDS7902.1	.	.	.	.	.	.	.	.	.	.	G	8.542	0.873497	0.17322	2.27E-4	3.49E-4	ENSG00000166349	ENST00000534663;ENST00000299440	D;D	0.90955	-2.76;-2.76	5.94	-2.16	0.07080	.	0.396580	0.26719	N	0.022853	D	0.88676	0.6501	M	0.84948	2.725	0.19945	N	0.99994	B	0.06786	0.001	B	0.08055	0.003	T	0.79567	-0.1750	10	0.62326	D	0.03	.	8.8315	0.35087	0.1765:0.4075:0.416:0.0	.	876	P15918	RAG1_HUMAN	K	876	ENSP00000434610:E876K;ENSP00000299440:E876K	ENSP00000299440:E876K	E	+	1	0	RAG1	36554056	0.916000	0.31088	0.000000	0.03702	0.249000	0.25844	1.319000	0.33655	-0.692000	0.05128	-0.151000	0.13558	GAG		0.483	RAG1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389535.1	NM_000448		45	90	0	0	0	0.139131	0	45	90					A	36597480	G	A	36597480	3	1	206	1	0	0	0	0	1	0	0	0	13003	1059	37	2	2628	2	RAG1	11	36597480	Missense_Mutation	SNP	G	TCGA-HC-7230-01A-11D-2114-08		36597480	98409036	23	9490											
OR5L2	26338	broad.mit.edu	37	chr11	55594795	55594795	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttcctgctgttccttctcaTctatggagtcacgttgttag	5	17	8	11	1	3	0	2	0	2	0	6	1	5	1	2	1	1	4	2	1	2	6			TCGA-HC-7230-01A-11D-2114-08	TCGA-HC-7230-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8733559-f04a-4325-b92b-4508013a853b	3c4dfdcc-2193-4780-bd67-716947ce87f2	g.chr11:55594795T>C	ENST00000378397.1	+	1	101	c.101T>C	c.(100-102)aTc>aCc	p.I34T		NM_001004739.1	NP_001004739.1	Q8NGL0	OR5L2_HUMAN	olfactory receptor, family 5, subfamily L, member 2	34						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|kidney(1)|large_intestine(1)|lung(42)|ovary(1)|prostate(3)|skin(1)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	59		all_epithelial(135;0.208)				TTCCTTCTCATCTATGGAGTC	0.517										HNSCC(27;0.073)																												ENST00000378397.1																			0				breast(2)|kidney(1)|large_intestine(1)|lung(42)|ovary(1)|prostate(3)|skin(1)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	59						c.(100-102)aTc>aCc		olfactory receptor, family 5, subfamily L, member 2							272	245	254					11																	55594795		2200	4296	6496	SO:0001583	missense	26338				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55594795T>C	AB065782	CCDS31511.1	11q11	2012-08-09			ENSG00000205030	ENSG00000205030		"GPCR / Class A : Olfactory receptors"	8351	protein-coding gene	gene with protein product						1370859	Standard	NM_001004739		Approved	HTPCRX16, HSHTPCRX16	uc001nhy.1	Q8NGL0	OTTHUMG00000166812	ENST00000378397.1:c.101T>C	11.37:g.55594795T>C	ENSP00000367650:p.Ile34Thr	HNSCC(27;0.073)					p.I34T	NM_001004739.1	NP_001004739.1	Q8NGL0	OR5L2_HUMAN			1	101	+		all_epithelial(135;0.208)	34					Q6IF66|Q96RB2	Missense_Mutation	SNP	ENST00000378397.1	37	c.101T>C	CCDS31511.1	.	.	.	.	.	.	.	.	.	.	.	16.54	3.152332	0.57259	.	.	ENSG00000205030	ENST00000378397	T	0.00441	7.41	5.13	3.99	0.46301	.	0.130327	0.34932	N	0.003577	T	0.00608	0.0020	L	0.53729	1.69	0.28857	N	0.895701	D	0.62365	0.991	P	0.56700	0.804	T	0.46317	-0.9200	10	0.87932	D	0	-24.097	8.5546	0.33474	0.0:0.1618:0.0:0.8382	.	34	Q8NGL0	OR5L2_HUMAN	T	34	ENSP00000367650:I34T	ENSP00000367650:I34T	I	+	2	0	OR5L2	55351371	0.001000	0.12720	0.975000	0.42487	0.884000	0.51177	0.488000	0.22371	0.914000	0.36822	0.509000	0.49947	ATC		0.517	OR5L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391516.1	NM_001004739		37	291	0	0	0	0.09836	0	37	291					C	55594795	T	C	55594795	3	2	206	1	0	0	0	0	1	0	0	0	11171	1435	50	4	103	4	OR5L2	11	55594795	Missense_Mutation	SNP	T	TCGA-HC-7230-01A-11D-2114-08	18997315	55594795	79411721	24	9491											
RELA	5970	broad.mit.edu	37	chr11	65423213	65423213	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	cacagcaatgcgtcgaggtgGaggccgggggtcggtgggtc	6	6	20	9	4	0	0	0	0	0	0	3	2	0	1	1	7	2	1	1	7	1	0			TCGA-HC-7230-01A-11D-2114-08	TCGA-HC-7230-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8733559-f04a-4325-b92b-4508013a853b	3c4dfdcc-2193-4780-bd67-716947ce87f2	g.chr11:65423213G>A	ENST00000406246.3	-	10	1240	c.979C>T	c.(979-981)Cca>Tca	p.P327S	RELA_ENST00000308639.9_Missense_Mutation_p.P324S|RELA_ENST00000525693.1_Missense_Mutation_p.P327S	NM_001243984.1|NM_001243985.1|NM_021975.3	NP_001230913.1|NP_001230914.1|NP_068810.3	Q04206	TF65_HUMAN	v-rel avian reticuloendotheliosis viral oncogene homolog A	327					acetaldehyde metabolic process (GO:0006117)|aging (GO:0007568)|cellular defense response (GO:0006968)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to interleukin-1 (GO:0071347)|cellular response to interleukin-6 (GO:0071354)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to nicotine (GO:0071316)|cellular response to peptide hormone stimulus (GO:0071375)|cellular response to tumor necrosis factor (GO:0071356)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|Fc-epsilon receptor signaling pathway (GO:0038095)|hair follicle development (GO:0001942)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|liver development (GO:0001889)|membrane protein intracellular domain proteolysis (GO:0031293)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nucleotide-binding oligomerization domain containing 2 signaling pathway (GO:0070431)|organ morphogenesis (GO:0009887)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-12 biosynthetic process (GO:0045084)|positive regulation of miRNA metabolic process (GO:2000630)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of Schwann cell differentiation (GO:0014040)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|regulation of inflammatory response (GO:0050727)|response to amino acid (GO:0043200)|response to cAMP (GO:0051591)|response to cobalamin (GO:0033590)|response to drug (GO:0042493)|response to insulin (GO:0032868)|response to interleukin-1 (GO:0070555)|response to mechanical stimulus (GO:0009612)|response to morphine (GO:0043278)|response to muramyl dipeptide (GO:0032495)|response to organic substance (GO:0010033)|response to progesterone (GO:0032570)|response to UV-B (GO:0010224)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	activating transcription factor binding (GO:0033613)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|NF-kappaB binding (GO:0051059)|phosphate ion binding (GO:0042301)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|repressing transcription factor binding (GO:0070491)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(11)|ovary(1)|urinary_tract(1)	19						CGTCGAGGTGGAGGCCGGGGG	0.622																																						ENST00000525693.1																			0				central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(11)|ovary(1)|urinary_tract(1)	19						c.(979-981)Cca>Tca		v-rel avian reticuloendotheliosis viral oncogene homolog A							100	97	98					11																	65423213		2201	4297	6498	SO:0001583	missense	5970				anti-apoptosis|cellular defense response|cytokine-mediated signaling pathway|defense response to virus|inflammatory response|innate immune response|interspecies interaction between organisms|membrane protein intracellular domain proteolysis|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription, DNA-dependent|nerve growth factor receptor signaling pathway|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of inflammatory response|response to interleukin-1|response to UV-B|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|transcription factor complex	activating transcription factor binding|chromatin binding|identical protein binding|NF-kappaB binding|phosphate binding|protein kinase binding|protein N-terminus binding|repressing transcription factor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|ubiquitin protein ligase binding	g.chr11:65423213G>A	Z22951	CCDS31609.1, CCDS44651.1, CCDS73322.1	11q13	2013-07-09	2013-07-09		ENSG00000173039	ENSG00000173039			9955	protein-coding gene	gene with protein product		164014	"nuclear factor of kappa light polypeptide gene enhancer in B-cells 3"	NFKB3		2001591	Standard	NM_021975		Approved	p65	uc001ofg.3	Q04206	OTTHUMG00000166566	ENST00000406246.3:c.979C>T	11.37:g.65423213G>A	ENSP00000384273:p.Pro327Ser					RELA_ENST00000308639.9_Missense_Mutation_p.P324S|RELA_ENST00000406246.3_Missense_Mutation_p.P327S	p.P327S			Q04206	TF65_HUMAN			10	1041	-			327					Q6GTV1|Q6SLK1	Missense_Mutation	SNP	ENST00000406246.3	37	c.979C>T	CCDS31609.1	.	.	.	.	.	.	.	.	.	.	G	13.34	2.206647	0.39003	.	.	ENSG00000173039	ENST00000406246;ENST00000525693;ENST00000308639;ENST00000545816;ENST00000532999	T;T;T;T	0.47528	0.84;0.84;0.84;0.84	4.61	1.52	0.23074	.	0.780131	0.11630	N	0.544854	T	0.26048	0.0635	N	0.21448	0.665	0.31636	N	0.648429	B;B;B;B;B;B	0.20988	0.05;0.05;0.007;0.004;0.002;0.002	B;B;B;B;B;B	0.17433	0.018;0.01;0.005;0.002;0.003;0.001	T	0.34304	-0.9834	10	0.08179	T	0.78	-0.3644	4.8112	0.13344	0.2055:0.1764:0.6181:0.0	.	317;314;324;327;338;327	Q04206-3;Q04206-2;Q04206-4;Q04206;B4E082;Q2TAM5	.;.;.;TF65_HUMAN;.;.	S	327;327;324;338;338	ENSP00000384273:P327S;ENSP00000432537:P327S;ENSP00000311508:P324S;ENSP00000433526:P338S	ENSP00000311508:P324S	P	-	1	0	RELA	65179789	0.998000	0.40836	0.975000	0.42487	0.963000	0.63663	1.359000	0.34113	0.351000	0.24027	0.555000	0.69702	CCA		0.622	RELA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390457.2	NM_021975		27	34	0	0	0	0.153744	0	27	34					A	65423213	G	A	65423213	3	1	206	1	0	0	0	0	1	0	0	0	13216	1174	41	3	684	3	RELA	11	65423213	Missense_Mutation	SNP	G	TCGA-HC-7230-01A-11D-2114-08	9828418	65423213	69583303	25	9492											
SCN3B	55800	broad.mit.edu	37	chr11	123516294	123516294	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agagtcagcagtctaacataCaaggaaatctttaccgccct	14	9	7	11	1	3	1	1	0	2	1	3	2	3	2	2	1	4	1	2	1	5	4			TCGA-HC-7230-01A-11D-2114-08	TCGA-HC-7230-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8733559-f04a-4325-b92b-4508013a853b	3c4dfdcc-2193-4780-bd67-716947ce87f2	g.chr11:123516294C>T	ENST00000392770.2	-	2	1022		c.e2+1		SCN3B_ENST00000530277.1_Splice_Site|SCN3B_ENST00000299333.3_Splice_Site	NM_018400.3	NP_060870.1	Q9NY72	SCN3B_HUMAN	sodium channel, voltage-gated, type III, beta subunit						atrial cardiac muscle cell action potential (GO:0086014)|axon guidance (GO:0007411)|cardiac muscle cell action potential involved in contraction (GO:0086002)|cardiac muscle contraction (GO:0060048)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|positive regulation of heart rate (GO:0010460)|positive regulation of sodium ion transport (GO:0010765)|protein localization to plasma membrane (GO:0072659)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of sodium ion transmembrane transporter activity (GO:2000649)|regulation of ventricular cardiac muscle cell membrane depolarization (GO:0060373)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sensory perception of pain (GO:0019233)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|ventricular cardiac muscle cell action potential (GO:0086005)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)|Z disc (GO:0030018)	ion channel binding (GO:0044325)|sodium channel regulator activity (GO:0017080)|voltage-gated sodium channel activity (GO:0005248)|voltage-gated sodium channel activity involved in cardiac muscle cell action potential (GO:0086006)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(2)|skin(2)	26		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.37e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0227)	Valproic Acid(DB00313)|Zonisamide(DB00909)	GTCTAACATACAAGGAAATCT	0.572																																						ENST00000392770.2																			0				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(2)|skin(2)	26						c.e2+1		sodium channel, voltage-gated, type III, beta subunit							132	141	138					11																	123516294		2202	4299	6501	SO:0001630	splice_region_variant	55800				axon guidance	integral to membrane|plasma membrane	voltage-gated sodium channel activity	g.chr11:123516294C>T	AJ243396	CCDS8442.1	11q24.1	2014-09-17	2012-02-28		ENSG00000166257	ENSG00000166257		"Sodium channels", "Voltage-gated ion channels / Sodium channels", "Immunoglobulin superfamily / V-set domain containing"	20665	protein-coding gene	gene with protein product		608214	"sodium channel, voltage-gated, type III, beta"			10688874	Standard	XR_428980		Approved	HSA243396	uc001pzb.1	Q9NY72	OTTHUMG00000166006	ENST00000392770.2:c.219+1G>A	11.37:g.123516294C>T						SCN3B_ENST00000530277.1_Splice_Site|SCN3B_ENST00000299333.3_Splice_Site		NM_018400.3	NP_060870.1	Q9NY72	SCN3B_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.37e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0227)	2	1022	-		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)						A5H1I5|Q17RL3|Q9ULR2	Splice_Site	SNP	ENST00000392770.2	37		CCDS8442.1	.	.	.	.	.	.	.	.	.	.	C	25.9	4.681436	0.88542	.	.	ENSG00000166257	ENST00000392770;ENST00000299333;ENST00000530277;ENST00000527836;ENST00000528267	.	.	.	5.96	5.96	0.96718	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.4182	0.99029	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SCN3B	123021504	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.216000	0.58540	2.820000	0.97059	0.609000	0.83330	.		0.572	SCN3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387412.1	NM_018400	Intron	48	89	0	0	0	0.139131	0	48	89					T	123516294	C	T	123516294	5	4	206	1	0	0	0	0	0	0	1	0	13919	492	17	3	443	3	SCN3B	11	123516294	Splice_Site	SNP	C	TCGA-HC-7230-01A-11D-2114-08	58093081	123516294	11490222	26	9493											
KRT6A	3853	broad.mit.edu	37	chr12	52881722	52881722	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accgccatagccactggagaCggtggactgcaccacagctg	10	5	12	14	2	0	1	0	0	0	1	0	3	0	2	4	3	3	2	4	3	1	1	rs201432146		TCGA-HC-7230-01A-11D-2114-08	TCGA-HC-7230-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8733559-f04a-4325-b92b-4508013a853b	3c4dfdcc-2193-4780-bd67-716947ce87f2	g.chr12:52881722C>T	ENST00000330722.6	-	9	1545	c.1477G>A	c.(1477-1479)Gtc>Atc	p.V493I		NM_005554.3	NP_005545.1	P02538	K2C6A_HUMAN	keratin 6A	493	Tail.				cell differentiation (GO:0030154)|positive regulation of cell proliferation (GO:0008284)	extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)|membrane (GO:0016020)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|liver(1)|lung(14)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	39				BRCA - Breast invasive adenocarcinoma(357;0.189)		CCACTGGAGACGGTGGACTGC	0.612													c|||	1	0.000199681	0	0.0014	5008	,	,		21240	0		0	False		,,,				2504	0					ENST00000330722.6																			0				breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|liver(1)|lung(14)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	39						c.(1477-1479)Gtc>Atc		keratin 6A							70	70	70					12																	52881722		2203	4300	6503	SO:0001583	missense	3853				cell differentiation|ectoderm development|positive regulation of cell proliferation	keratin filament	protein binding|structural constituent of cytoskeleton	g.chr12:52881722C>T	BC014152, L42593, L42610	CCDS41786.1	12q13.13	2013-01-16			ENSG00000205420	ENSG00000205420		"-", "Intermediate filaments type II, keratins (basic)"	6443	protein-coding gene	gene with protein product		148041	"keratin 6C", "keratin 6D"	KRT6C, KRT6D		1713141, 16831889	Standard	NM_005554		Approved	CK6C, K6C, CK6D, K6D	uc001sam.3	P02538	OTTHUMG00000169597	ENST00000330722.6:c.1477G>A	12.37:g.52881722C>T	ENSP00000369317:p.Val493Ile						p.V493I	NM_005554.3	NP_005545.1	P02538	K2C6A_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.189)	9	1545	-			493			Tail.		A4QPC1|P48667|Q08AR4|Q6NT67|Q96CL4	Missense_Mutation	SNP	ENST00000330722.6	37	c.1477G>A	CCDS41786.1	.	.	.	.	.	.	.	.	.	.	c	5.674	0.309038	0.10733	.	.	ENSG00000205420	ENST00000330722;ENST00000452121	D	0.92911	-3.13	5.06	1.09	0.20402	.	0.339004	0.21394	N	0.075243	D	0.88559	0.6469	M	0.73217	2.22	0.27708	N	0.945549	B	0.15719	0.014	B	0.08055	0.003	T	0.73940	-0.3824	10	0.15952	T	0.53	.	10.1679	0.42890	0.0:0.6305:0.0:0.3695	.	493	P02538	K2C6A_HUMAN	I	493;449	ENSP00000369317:V493I	ENSP00000369317:V493I	V	-	1	0	KRT6A	51167989	0.004000	0.15560	0.812000	0.32479	0.177000	0.22998	0.230000	0.17852	-0.001000	0.14495	-0.236000	0.12185	GTC		0.612	KRT6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404978.2	NM_005554		24	12	0	0	0	0.076483	0	24	12					T	52881722	C	T	52881722	3	4	206	1	0	0	0	0	1	0	0	0	8480	536	19	1	221	1	KRT6A	12	52881722	Missense_Mutation	SNP	C	TCGA-HC-7230-01A-11D-2114-08		52881722	80970173	27	9494											
C13orf23	80209	broad.mit.edu	37	chr13	39587196	39587196	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agagatgtggaggtggcagcGgtagatgaggtggctattaa	11	9	18	3	1	0	3	0	1	0	2	0	5	0	4	0	6	1	3	0	6	3	3			TCGA-HC-7230-01A-11D-2114-08	TCGA-HC-7230-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8733559-f04a-4325-b92b-4508013a853b	3c4dfdcc-2193-4780-bd67-716947ce87f2	g.chr13:39587196G>A	ENST00000352251.3	-	11	3026	c.2193C>T	c.(2191-2193)acC>acT	p.T731T	PROSER1_ENST00000350125.3_Silent_p.T709T|PROSER1_ENST00000484434.3_Intron	NM_025138.4	NP_079414.3	Q86XN7	PRSR1_HUMAN	proline and serine rich 1	731	Ser-rich.																AGGTGGCAGCGGTAGATGAGG	0.498																																						ENST00000352251.3																			0											c.(2191-2193)acC>acT		proline and serine rich 1							178	191	186					13																	39587196		2203	4300	6503	SO:0001819	synonymous_variant	80209							g.chr13:39587196G>A	AK022723	CCDS9368.2	13q13.2	2011-08-09	2011-08-09	2011-08-09	ENSG00000120685	ENSG00000120685			20291	protein-coding gene	gene with protein product			"chromosome 13 open reading frame 23"	C13orf23			Standard	NM_025138		Approved	bA50D16.2, FLJ12661	uc001uwy.4	Q86XN7	OTTHUMG00000016764	ENST00000352251.3:c.2193C>T	13.37:g.39587196G>A						PROSER1_ENST00000484434.2_Intron|PROSER1_ENST00000350125.3_Silent_p.T709T	p.T731T	NM_025138.3	NP_079414.3	Q86XN7	CM023_HUMAN			11	3026	-			731			Ser-rich.		A6NJ97|Q6P2S2|Q7Z3X5|Q8N3D2|Q8N3P1|Q9H9M1	Silent	SNP	ENST00000352251.3	37	c.2193C>T	CCDS9368.2																																																																																				0.498	PROSER1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044607.5	NM_025138		11	171	0	0	0	0.09319	0	11	171					A	39587196	G	A	39587196	2	1	206	1	0	0	0	0	0	0	0	1	1721	1103	39	2		2	C13orf23	13	39587196	Silent	SNP	G	TCGA-HC-7230-01A-11D-2114-08		39587196	75582682	28	9495											
ZFYVE1	53349	broad.mit.edu	37	chr14	73459968	73459968	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtgggagggttgtaagtcctCgttcccttgtagtgaatgga	7	13	15	6	1	0	1	0	1	0	0	3	3	2	3	2	3	0	4	2	3	3	5			TCGA-HC-7230-01A-11D-2114-08	TCGA-HC-7230-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8733559-f04a-4325-b92b-4508013a853b	3c4dfdcc-2193-4780-bd67-716947ce87f2	g.chr14:73459968C>T	ENST00000556143.1	-	4	1806	c.1086G>A	c.(1084-1086)acG>acA	p.T362T	ZFYVE1_ENST00000553891.1_Silent_p.T362T|ZFYVE1_ENST00000318876.5_Silent_p.T362T	NM_001281735.1|NM_021260.2	NP_001268664.1|NP_067083.1	Q9HBF4	ZFYV1_HUMAN	zinc finger, FYVE domain containing 1	362					negative regulation of phosphatase activity (GO:0010923)	autophagic vacuole (GO:0005776)|endoplasmic reticulum (GO:0005783)|ER-mitochondrion membrane contact site (GO:0044233)|Golgi stack (GO:0005795)|perinuclear region of cytoplasm (GO:0048471)|pre-autophagosomal structure (GO:0000407)	1-phosphatidylinositol binding (GO:0005545)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(17)|ovary(1)|prostate(2)|skin(1)	35		all_lung(585;1.33e-09)		OV - Ovarian serous cystadenocarcinoma(108;1.6e-46)|BRCA - Breast invasive adenocarcinoma(234;0.00349)		TGTAAGTCCTCGTTCCCTTGT	0.562																																						ENST00000556143.1																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(17)|ovary(1)|prostate(2)|skin(1)	35						c.(1084-1086)acG>acA		zinc finger, FYVE domain containing 1							79	82	81					14																	73459968		2203	4300	6503	SO:0001819	synonymous_variant	53349					endoplasmic reticulum|Golgi stack|perinuclear region of cytoplasm	1-phosphatidylinositol binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|zinc ion binding	g.chr14:73459968C>T	AF251025	CCDS9811.1, CCDS41969.1, CCDS61498.1	14q24.2	2014-06-13	2003-02-28	2003-03-07		ENSG00000165861		"Zinc fingers, FYVE domain containing"	13180	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 172"	605471	"zinc finger protein, subfamily 2A (FYVE domain containing), 1"	ZNFN2A1		11024279, 11256955	Standard	NM_021260		Approved	DFCP1, KIAA1589, TAFF1, PPP1R172	uc001xnm.3	Q9HBF4		ENST00000556143.1:c.1086G>A	14.37:g.73459968C>T						ZFYVE1_ENST00000553891.1_Silent_p.T362T|ZFYVE1_ENST00000318876.5_Silent_p.T362T	p.T362T	NM_021260.2	NP_067083.1	Q9HBF4	ZFYV1_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;1.6e-46)|BRCA - Breast invasive adenocarcinoma(234;0.00349)	4	1806	-		all_lung(585;1.33e-09)	362					J3KNL9|Q8WYX7|Q96K57|Q9BXP9|Q9HCI3	Silent	SNP	ENST00000556143.1	37	c.1086G>A	CCDS9811.1																																																																																				0.562	ZFYVE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413172.1	NM_021260		43	61	0	0	0	0.139131	0	43	61					T	73459968	C	T	73459968	2	4	206	1	0	0	0	0	0	0	0	1	17660	871	31	2		2	ZFYVE1	14	73459968	Silent	SNP	C	TCGA-HC-7230-01A-11D-2114-08		73459968	33889572	29	9496											
ADAMTS18	170692	broad.mit.edu	37	chr16	77327095	77327095	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gctctcggggagggtttctgCggcagagcccttgcagagga	6	8	17	10	2	2	2	0	0	2	2	3	4	2	4	1	5	3	4	1	5	0	2	rs370743740	byFrequency	TCGA-HC-7230-01A-11D-2114-08	TCGA-HC-7230-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8733559-f04a-4325-b92b-4508013a853b	3c4dfdcc-2193-4780-bd67-716947ce87f2	g.chr16:77327095C>T	ENST00000282849.5	-	20	3485	c.3067G>A	c.(3067-3069)Gca>Aca	p.A1023T	RP11-538I12.3_ENST00000561672.1_RNA	NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 18	1023	TSP type-1 3. {ECO:0000255|PROSITE- ProRule:PRU00210}.				eye development (GO:0001654)|negative regulation of platelet aggregation (GO:0090331)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						AGGGTTTCTGCGGCAGAGCCC	0.562													C|||	6	0.00119808	0	0	5008	,	,		15228	0.006		0	False		,,,				2504	0					ENST00000282849.5																			0				NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						c.(3067-3069)Gca>Aca		ADAM metallopeptidase with thrombospondin type 1 motif, 18		C	THR/ALA	1,4395	2.1+/-5.4	0,1,2197	90	87	88		3067	-0.5	0	16		88	0,8600		0,0,4300	no	missense	ADAMTS18	NM_199355.2	58	0,1,6497	TT,TC,CC		0.0,0.0227,0.0077	benign	1023/1222	77327095	1,12995	2198	4300	6498	SO:0001583	missense	170692				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr16:77327095C>T	AJ311903	CCDS10926.1	16q23	2008-07-29	2005-08-19		ENSG00000140873	ENSG00000140873		"ADAM metallopeptidases with thrombospondin type 1 motif"	17110	protein-coding gene	gene with protein product		607512	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 18"	ADAMTS21		11867212, 17546048	Standard	NM_199355		Approved		uc002ffc.4	Q8TE60	OTTHUMG00000137619	ENST00000282849.5:c.3067G>A	16.37:g.77327095C>T	ENSP00000282849:p.Ala1023Thr						p.A1023T	NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN			20	3485	-			1023			TSP type-1 3.		Q6P4R5|Q6ZWJ9	Missense_Mutation	SNP	ENST00000282849.5	37	c.3067G>A	CCDS10926.1	.	.	.	.	.	.	.	.	.	.	C	10.73	1.432950	0.25813	2.27E-4	0.0	ENSG00000140873	ENST00000282849	T	0.60672	0.17	6.03	-0.519	0.11939	.	0.394048	0.26499	N	0.024034	T	0.30572	0.0769	N	0.17800	0.525	0.09310	N	1	B;B	0.10296	0.002;0.003	B;B	0.18561	0.003;0.022	T	0.06232	-1.0838	10	0.23891	T	0.37	.	0.4633	0.00520	0.2131:0.2963:0.2276:0.263	.	1023;1023	Q8TE60-2;Q8TE60	.;ATS18_HUMAN	T	1023	ENSP00000282849:A1023T	ENSP00000282849:A1023T	A	-	1	0	ADAMTS18	75884596	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.057000	0.14279	-0.279000	0.09167	-1.136000	0.01936	GCA		0.562	ADAMTS18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269037.1			4	144	0	0	0	0.150653	0	4	144					T	77327095	C	T	77327095	3	4	206	1	0	0	0	0	1	0	0	0	263	768	27	1	614	1	ADAMTS18	16	77327095	Missense_Mutation	SNP	C	TCGA-HC-7230-01A-11D-2114-08		77327095	13027658	30	9497											
TP53	7157	broad.mit.edu	37	chr17	7577538	7577538	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgatggtgaggatgggcctcCggttcatgccgcccatgcag	6	9	15	11	2	1	2	1	2	0	0	2	3	2	3	4	4	2	2	4	4	0	1	rs11540652		TCGA-HC-7230-01A-11D-2114-08	TCGA-HC-7230-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8733559-f04a-4325-b92b-4508013a853b	3c4dfdcc-2193-4780-bd67-716947ce87f2	g.chr17:7577538C>T	ENST00000269305.4	-	7	932	c.743G>A	c.(742-744)cGg>cAg	p.R248Q	TP53_ENST00000574684.1_5'Flank|TP53_ENST00000420246.2_Missense_Mutation_p.R248Q|TP53_ENST00000413465.2_Missense_Mutation_p.R248Q|TP53_ENST00000445888.2_Missense_Mutation_p.R248Q|TP53_ENST00000455263.2_Missense_Mutation_p.R248Q|TP53_ENST00000359597.4_Missense_Mutation_p.R248Q	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	248	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Interacts with the 53BP2 SH3 domain.|Required for interaction with ZNF385A.		NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:7682763}.|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:2263646, ECO:0000269|PubMed:7682763, ECO:0000269|PubMed:7887414}.|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1978757, ECO:0000269|PubMed:8829627}.		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R248Q(580)|p.R248L(75)|p.R248P(19)|p.R155Q(18)|p.0?(8)|p.?(5)|p.R155L(3)|p.R155P(2)|p.N247_R248delNR(2)|p.R248fs*16(2)|p.M246_P250delMNRRP(2)|p.R248_P250delRRP(1)|p.unknown(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R249fs*96(1)|p.R248fs*>39(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GATGGGCCTCCGGTTCATGCC	0.572	R248Q(BL41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CA46_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(EM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(HCC1143_BREAST)|R248Q(HCC70_BREAST)|R248Q(HEC1A_ENDOMETRIUM)|R248Q(HS683_CENTRAL_NERVOUS_SYSTEM)|R248Q(HSC4_UPPER_AERODIGESTIVE_TRACT)|R248Q(KASUMI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYSE150_OESOPHAGUS)|R248Q(MOLM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NAMALWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NB4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NCIH211_LUNG)|R248Q(NCIN87_STOMACH)|R248Q(NIHOVCAR3_OVARY)|R248Q(NUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(P12ICHIKAWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(PANC0203_PANCREAS)|R248Q(PC14_LUNG)|R248Q(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(RT112_URINARY_TRACT)|R248Q(SEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SF295_CENTRAL_NERVOUS_SYSTEM)|R248Q(SKUT1_SOFT_TISSUE)|R248Q(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SW1463_LARGE_INTESTINE)|R248Q(WSUDLCL2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2	R248Q(BL41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CA46_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(EM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(HCC1143_BREAST)|R248Q(HCC70_BREAST)|R248Q(HEC1A_ENDOMETRIUM)|R248Q(HS683_CENTRAL_NERVOUS_SYSTEM)|R248Q(HSC4_UPPER_AERODIGESTIVE_TRACT)|R248Q(KASUMI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYSE150_OESOPHAGUS)|R248Q(MOLM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NAMALWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NB4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NCIH211_LUNG)|R248Q(NCIN87_STOMACH)|R248Q(NIHOVCAR3_OVARY)|R248Q(NUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(P12ICHIKAWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(PANC0203_PANCREAS)|R248Q(PC14_LUNG)|R248Q(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(RT112_URINARY_TRACT)|R248Q(SEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SF295_CENTRAL_NERVOUS_SYSTEM)|R248Q(SKUT1_SOFT_TISSUE)|R248Q(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SW1463_LARGE_INTESTINE)|R248Q(WSUDLCL2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"Mis, N, F"	tumor protein p53			"L, E, M, O"		"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"	"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"		725	Substitution - Missense(698)|Whole gene deletion(8)|Deletion - In frame(7)|Unknown(6)|Insertion - Frameshift(3)|Deletion - Frameshift(2)|Complex - compound substitution(1)	p.R248Q(580)|p.R248L(75)|p.R248P(19)|p.R155Q(18)|p.0?(8)|p.?(5)|p.R155L(3)|p.R155P(2)|p.N247_R248delNR(2)|p.R248fs*16(2)|p.M246_P250delMNRRP(2)|p.R248_P250delRRP(1)|p.unknown(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R249fs*96(1)|p.R248fs*>39(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(1)	large_intestine(138)|breast(83)|haematopoietic_and_lymphoid_tissue(74)|lung(71)|upper_aerodigestive_tract(63)|central_nervous_system(46)|oesophagus(37)|urinary_tract(37)|ovary(36)|stomach(35)|endometrium(23)|skin(18)|prostate(11)|bone(10)|biliary_tract(9)|liver(9)|pancreas(7)|vulva(3)|kidney(3)|cervix(3)|peritoneum(2)|thyroid(2)|soft_tissue(1)|pituitary(1)|adrenal_gland(1)|small_intestine(1)|thymus(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185	GRCh37	CM920675	TP53	M	rs11540652	c.(742-744)cGg>cAg	Other conserved DNA damage response genes	tumor protein p53		C	GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG	0,4406		0,0,2203	152	112	126	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	743,743,743,743,347,347,347	3.7	1	17	dbSNP_120	126	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense,missense,missense,missense	TP53	NM_000546.4,NM_001126112.1,NM_001126113.1,NM_001126114.1,NM_001126115.1,NM_001126116.1,NM_001126117.1	43,43,43,43,43,43,43	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	248/394,248/394,248/347,248/342,116/262,116/210,116/215	7577538	1,13005	2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577538C>T	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"Li-Fraumeni syndrome"	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.743G>A	17.37:g.7577538C>T	ENSP00000269305:p.Arg248Gln	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_ENST00000445888.2_Missense_Mutation_p.R248Q|TP53_ENST00000359597.4_Missense_Mutation_p.R248Q|TP53_ENST00000269305.4_Missense_Mutation_p.R248Q|TP53_ENST00000455263.2_Missense_Mutation_p.R248Q|TP53_ENST00000413465.2_Missense_Mutation_p.R248Q	p.R248Q	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	7	875	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	248		NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652).|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.743G>A	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	27.3	4.822907	0.90873	0.0	1.16E-4	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99864	-7.28;-7.28;-7.28;-7.28;-7.28;-7.28;-7.28;-7.28	4.62	3.65	0.41850	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99840	0.9927	M	0.88640	2.97	0.58432	A	0.999994	D;D;D;D;D;D	0.89917	1.0;0.994;1.0;1.0;1.0;1.0	D;P;D;D;D;D	0.91635	0.996;0.882;0.999;0.995;0.996;0.995	D	0.96819	0.9602	9	0.72032	D	0.01	-9.5643	10.6687	0.45745	0.0:0.9059:0.0:0.0941	rs11540652;rs11540652	248;248;155;248;248;248	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	Q	248;248;248;248;248;248;237;155;116;155	ENSP00000410739:R248Q;ENSP00000352610:R248Q;ENSP00000269305:R248Q;ENSP00000398846:R248Q;ENSP00000391127:R248Q;ENSP00000391478:R248Q;ENSP00000425104:R116Q;ENSP00000423862:R155Q	ENSP00000269305:R248Q	R	-	2	0	TP53	7518263	1.000000	0.71417	1.000000	0.80357	0.887000	0.51463	5.884000	0.69729	1.305000	0.44909	0.462000	0.41574	CGG		0.572	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		28	21	0	0	0	0.153744	0	28	21					T	7577538	C	T	7577538	3	4	206	1	0	0	0	0	1	0	0	0	16378	652	23	2	547	2	TP53	17	7577538	Missense_Mutation	SNP	C	TCGA-HC-7230-01A-11D-2114-08		7577538	73617672	31	9498											
CAPNS1	826	broad.mit.edu	37	chr19	36636739	36636739	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggcaagctgggctttgaggAattcaagtacttgtggaaca	12	10	13	6	0	1	1	1	1	0	0	1	3	1	3	0	4	3	4	0	4	5	4			TCGA-HC-7230-01A-11D-2114-08	TCGA-HC-7230-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8733559-f04a-4325-b92b-4508013a853b	3c4dfdcc-2193-4780-bd67-716947ce87f2	g.chr19:36636739A>C	ENST00000246533.3	+	7	1086	c.488A>C	c.(487-489)gAa>gCa	p.E163A	CAPNS1_ENST00000589146.1_Intron|CAPNS1_ENST00000590874.1_Missense_Mutation_p.E133A|CAPNS1_ENST00000588815.1_Missense_Mutation_p.E163A|CAPNS1_ENST00000588780.1_Missense_Mutation_p.E173A|AD001527.7_ENST00000604228.1_RNA|CAPNS1_ENST00000587718.1_Missense_Mutation_p.E163A	NM_001003962.1|NM_001749.2	NP_001003962.1|NP_001740.1	P04632	CPNS1_HUMAN	calpain, small subunit 1	163	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.				extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of cell proliferation (GO:0008284)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)			cervix(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	5	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			GGCTTTGAGGAATTCAAGTAC	0.532																																					Esophageal Squamous(129;1541 1691 5780 18353 34150)	ENST00000246533.3																			0				cervix(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	5						c.(487-489)gAa>gCa		calpain, small subunit 1							108	92	97					19																	36636739		2203	4300	6503	SO:0001583	missense	826				positive regulation of cell proliferation	cytoplasm|plasma membrane	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity	g.chr19:36636739A>C	X04106	CCDS12489.1	19q13.1	2013-01-10		2001-08-10	ENSG00000126247	ENSG00000126247	3.4.22.52	"EF-hand domain containing"	1481	protein-coding gene	gene with protein product		114170		CAPN4		3024120, 3016651	Standard	NM_001003962		Approved	CANP, CANPS, 30K, CDPS	uc002odj.3	P04632		ENST00000246533.3:c.488A>C	19.37:g.36636739A>C	ENSP00000246533:p.Glu163Ala					CAPNS1_ENST00000588815.1_Missense_Mutation_p.E163A|CAPNS1_ENST00000587718.1_Missense_Mutation_p.E163A|CAPNS1_ENST00000589146.1_Intron|AD001527.7_ENST00000604228.1_RNA|CAPNS1_ENST00000590874.1_Missense_Mutation_p.E133A|CAPNS1_ENST00000588780.1_Missense_Mutation_p.E173A	p.E163A	NM_001003962.1|NM_001749.2	NP_001003962.1|NP_001740.1	P04632	CPNS1_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.06)		7	1086	+	Esophageal squamous(110;0.162)		163			EF-hand 2.		A8K0P1|Q8WTX3|Q96EW0	Missense_Mutation	SNP	ENST00000246533.3	37	c.488A>C	CCDS12489.1	.	.	.	.	.	.	.	.	.	.	a	25.0	4.594134	0.86953	.	.	ENSG00000126247	ENST00000246533	D	0.90504	-2.68	5.19	5.19	0.71726	EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	D	0.97155	0.9070	H	0.98407	4.225	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98206	1.0470	10	0.72032	D	0.01	.	13.2811	0.60214	1.0:0.0:0.0:0.0	.	163	P04632	CPNS1_HUMAN	A	163	ENSP00000246533:E163A	ENSP00000246533:E163A	E	+	2	0	CAPNS1	41328579	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.474000	0.90413	2.086000	0.62901	0.459000	0.35465	GAA		0.532	CAPNS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457411.2			38	69	0	0	0	0.117977	0	38	69					C	36636739	A	C	36636739	3	2	206	1	0	0	0	0	1	0	0	0	2633	246	9	5	510	5	CAPNS1	19	36636739	Missense_Mutation	SNP	A	TCGA-HC-7230-01A-11D-2114-08		36636739	22492244	32	9499											
NUMBL	9253	broad.mit.edu	37	chr19	41174032	41174032	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggcacggagggctcaccccAggcagaagtccctggagaga	10	3	16	12	1	1	2	1	0	0	2	2	5	2	4	3	5	0	3	3	5	1	0			TCGA-HC-7230-01A-11D-2114-08	TCGA-HC-7230-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8733559-f04a-4325-b92b-4508013a853b	3c4dfdcc-2193-4780-bd67-716947ce87f2	g.chr19:41174032A>G	ENST00000252891.4	-	10	1338	c.1171T>C	c.(1171-1173)Tgg>Cgg	p.W391R	NUMBL_ENST00000598779.1_Missense_Mutation_p.W350R|NUMBL_ENST00000540131.1_Missense_Mutation_p.W350R	NM_004756.3	NP_004747.1	Q9Y6R0	NUMBL_HUMAN	numb homolog (Drosophila)-like	391					adherens junction organization (GO:0034332)|axonogenesis (GO:0007409)|cytokine-mediated signaling pathway (GO:0019221)|lateral ventricle development (GO:0021670)|nervous system development (GO:0007399)|neuroblast division in subventricular zone (GO:0021849)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of neurogenesis (GO:0050769)|protein metabolic process (GO:0019538)	cytoplasm (GO:0005737)				NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)	16			Lung(22;0.000393)|LUSC - Lung squamous cell carcinoma(20;0.00105)			GGCTCACCCCAGGCAGAAGTC	0.652																																						ENST00000252891.4																			0				NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)	16						c.(1171-1173)Tgg>Cgg		numb homolog (Drosophila)-like							10	12	11					19																	41174032		2192	4276	6468	SO:0001583	missense	9253				cytokine-mediated signaling pathway|lateral ventricle development|neuroblast division in subventricular zone|protein metabolic process	cytoplasm	protein binding	g.chr19:41174032A>G	AF015401	CCDS12561.1	19q13.13-q13.2	2008-07-17	2001-11-28			ENSG00000105245			8061	protein-coding gene	gene with protein product		604018	"numb (Drosophila) homolog-like"			9225980, 9303539	Standard	XM_006723471		Approved	NUMB-R, CTG3a, CAG3A, TNRC23, NUMBR, NUMBLIKE	uc002oon.3	Q9Y6R0		ENST00000252891.4:c.1171T>C	19.37:g.41174032A>G	ENSP00000252891:p.Trp391Arg					NUMBL_ENST00000540131.1_Missense_Mutation_p.W350R|NUMBL_ENST00000598779.1_Missense_Mutation_p.W350R	p.W391R	NM_004756.3	NP_004747.1	Q9Y6R0	NUMBL_HUMAN	Lung(22;0.000393)|LUSC - Lung squamous cell carcinoma(20;0.00105)		10	1338	-			391					Q7Z4J9	Missense_Mutation	SNP	ENST00000252891.4	37	c.1171T>C	CCDS12561.1	.	.	.	.	.	.	.	.	.	.	A	7.698	0.692410	0.15039	.	.	ENSG00000105245	ENST00000252891;ENST00000540131	T;T	0.59772	0.24;0.28	4.61	4.61	0.57282	.	0.204155	0.45606	D	0.000356	T	0.56077	0.1961	L	0.46157	1.445	0.47698	D	0.999499	D;D	0.54964	0.969;0.969	P;P	0.49276	0.605;0.605	T	0.52909	-0.8512	10	0.24483	T	0.36	-11.5921	13.1072	0.59253	1.0:0.0:0.0:0.0	.	391;391	A8K033;Q9Y6R0	.;NUMBL_HUMAN	R	391;350	ENSP00000252891:W391R;ENSP00000442759:W350R	ENSP00000252891:W391R	W	-	1	0	NUMBL	45865872	1.000000	0.71417	1.000000	0.80357	0.203000	0.24098	5.109000	0.64615	1.936000	0.56123	0.459000	0.35465	TGG		0.652	NUMBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462749.2	NM_004756		2	12	0	0	0	0.115264	0	2	12					G	41174032	A	G	41174032	3	3	206	1	0	0	0	0	1	0	0	0	10752	188	7	4	662	4	NUMBL	19	41174032	Missense_Mutation	SNP	A	TCGA-HC-7230-01A-11D-2114-08	4537293	41174032	17954951	33	9500											
CD3EAP	10849	broad.mit.edu	37	chr19	45911967	45911967	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctctgggagtgctgttcccGtccaccaccaagaagaggaa	10	7	11	13	1	1	2	0	0	1	2	3	4	3	4	5	2	1	2	5	2	3	1			TCGA-HC-7230-01A-11D-2114-08	TCGA-HC-7230-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8733559-f04a-4325-b92b-4508013a853b	3c4dfdcc-2193-4780-bd67-716947ce87f2	g.chr19:45911967G>A	ENST00000309424.3	+	3	1229	c.741G>A	c.(739-741)ccG>ccA	p.P247P	ERCC1_ENST00000423698.2_3'UTR|CD3EAP_ENST00000589804.1_Silent_p.P249P|ERCC1_ENST00000300853.3_3'UTR|PPP1R13L_ENST00000418234.2_5'Flank|ERCC1_ENST00000588738.1_5'Flank	NM_012099.1	NP_036231.1	O15446	RPA34_HUMAN	CD3e molecule, epsilon associated protein	247					rRNA transcription (GO:0009303)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|DNA-directed RNA polymerase I complex (GO:0005736)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|RNA polymerase I transcription factor complex (GO:0000120)	DNA-directed RNA polymerase activity (GO:0003899)|poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)	11		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0251)		TGCTGTTCCCGTCCACCACCA	0.522																																						ENST00000309424.3																			0				breast(2)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)	11						c.(739-741)ccG>ccA		CD3e molecule, epsilon associated protein							69	77	74					19																	45911967		2203	4298	6501	SO:0001819	synonymous_variant	10849				rRNA transcription|transmembrane receptor protein tyrosine kinase signaling pathway	chromosome|RNA polymerase I transcription factor complex	DNA-directed RNA polymerase activity	g.chr19:45911967G>A	U86751	CCDS12661.1, CCDS74397.1	19q13.3	2008-02-05	2006-03-28			ENSG00000117877			24219	protein-coding gene	gene with protein product	"CD3 epsilon associated protein", "antisense to ERCC 1"	107325	"CD3e antigen, epsilon polypeptide associated protein"			10373416, 9426281, 15226435	Standard	XM_005258425		Approved	ASE-1, CAST, PAF49	uc002pbq.1	O15446		ENST00000309424.3:c.741G>A	19.37:g.45911967G>A						ERCC1_ENST00000423698.2_3'UTR|CD3EAP_ENST00000589804.1_Silent_p.P249P|ERCC1_ENST00000300853.3_3'UTR	p.P247P	NM_012099.1	NP_036231.1	O15446	RPA34_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0251)	3	1229	+		all_neural(266;0.224)|Ovarian(192;0.231)	247					Q32N11|Q7Z5U2|Q9UPF6	Silent	SNP	ENST00000309424.3	37	c.741G>A	CCDS12661.1																																																																																				0.522	CD3EAP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000459538.1	NM_012099		47	67	0	0	0	0.139131	0	47	67					A	45911967	G	A	45911967	2	1	206	1	0	0	0	0	0	0	0	1	3012	1132	40	1		1	CD3EAP	19	45911967	Silent	SNP	G	TCGA-HC-7230-01A-11D-2114-08	4737935	45911967	13217016	34	9501											
FPR2	2358	broad.mit.edu	37	chr19	52272719	52272719	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgggcaccgtctggctcaaaGagatgttgttctatggcaag	9	11	13	8	1	3	1	1	0	2	1	3	2	3	1	1	3	0	5	1	3	3	3			TCGA-HC-7230-01A-11D-2114-08	TCGA-HC-7230-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8733559-f04a-4325-b92b-4508013a853b	3c4dfdcc-2193-4780-bd67-716947ce87f2	g.chr19:52272719G>A	ENST00000598776.1	+	2	1580	c.808G>A	c.(808-810)Gag>Aag	p.E270K	FPR2_ENST00000340023.6_Missense_Mutation_p.E270K|FPR2_ENST00000598953.1_Missense_Mutation_p.E270K	NM_001462.3	NP_001453.1	P25090	FPR2_HUMAN	formyl peptide receptor 2	270					cell adhesion (GO:0007155)|cellular component movement (GO:0006928)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|N-formyl peptide receptor activity (GO:0004982)			endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	33						CTGGCTCAAAGAGATGTTGTT	0.512																																						ENST00000598776.1																			0				endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	33						c.(808-810)Gag>Aag		formyl peptide receptor 2							127	109	115					19																	52272719		2203	4300	6503	SO:0001583	missense	2358				cell adhesion|cellular component movement|chemotaxis|inflammatory response	integral to membrane|plasma membrane	N-formyl peptide receptor activity	g.chr19:52272719G>A	M88107	CCDS12840.1	19q13.3-q13.4	2012-08-10	2008-04-17	2008-04-17		ENSG00000171049		"GPCR / Class A : Formyl peptide receptors", "GPCR / Class A : Leukotriene receptors"	3827	protein-coding gene	gene with protein product		136538	"formyl peptide receptor-like 1"	FPRL1		9054386	Standard	NM_001462		Approved	LXA4R, HM63, FPRH2, FMLPX, FPR2A, FMLP-R-II, ALXR	uc002pxr.3	P25090		ENST00000598776.1:c.808G>A	19.37:g.52272719G>A	ENSP00000468897:p.Glu270Lys					FPR2_ENST00000340023.6_Missense_Mutation_p.E270K|FPR2_ENST00000598953.1_Missense_Mutation_p.E270K	p.E270K	NM_001462.3	NP_001453.1	P25090	FPR2_HUMAN			2	1580	+			270					A8K3E2	Missense_Mutation	SNP	ENST00000598776.1	37	c.808G>A	CCDS12840.1	.	.	.	.	.	.	.	.	.	.	.	12.07	1.828133	0.32329	.	.	ENSG00000171049	ENST00000340023	T	0.71817	-0.6	3.43	1.24	0.21308	GPCR, rhodopsin-like superfamily (1);	0.385641	0.25711	U	0.028820	T	0.67832	0.2935	L	0.61036	1.89	0.09310	N	1	B	0.33528	0.416	B	0.42163	0.378	T	0.60419	-0.7267	10	0.49607	T	0.09	.	6.6824	0.23127	0.1086:0.1827:0.7087:0.0	.	270	P25090	FPR2_HUMAN	K	270	ENSP00000340191:E270K	ENSP00000340191:E270K	E	+	1	0	FPR2	56964531	0.136000	0.22515	0.002000	0.10522	0.002000	0.02628	2.275000	0.43399	0.446000	0.26666	-0.350000	0.07774	GAG		0.512	FPR2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466912.2	NM_001005738		20	32	0	0	0	0.049695	0	20	32					A	52272719	G	A	52272719	3	1	206	1	0	0	0	0	1	0	0	0	6039	943	33	3	810	3	FPR2	19	52272719	Missense_Mutation	SNP	G	TCGA-HC-7230-01A-11D-2114-08	6360752	52272719	6856264	35	9502											
ZNF611	81856	broad.mit.edu	37	chr19	53209167	53209167	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgtctcaatggttgatttccGactgaaaactttgtcacatt	10	16	7	8	1	2	2	2	2	1	0	4	3	3	2	1	1	1	1	1	1	3	4	rs148756171		TCGA-HC-7230-01A-11D-2114-08	TCGA-HC-7230-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8733559-f04a-4325-b92b-4508013a853b	3c4dfdcc-2193-4780-bd67-716947ce87f2	g.chr19:53209167G>A	ENST00000319783.1	-	7	1457	c.1141C>T	c.(1141-1143)Cgg>Tgg	p.R381W	ZNF611_ENST00000602046.1_5'Flank|ZNF611_ENST00000453741.2_Missense_Mutation_p.R312W|ZNF611_ENST00000540744.1_Missense_Mutation_p.R381W|ZNF611_ENST00000543227.1_Missense_Mutation_p.R381W|ZNF611_ENST00000595798.1_Missense_Mutation_p.R312W|ZNF611_ENST00000602162.1_Missense_Mutation_p.R312W	NM_030972.3	NP_112234.3	Q8N823	ZN611_HUMAN	zinc finger protein 611	381					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				OV - Ovarian serous cystadenocarcinoma(262;0.0233)|GBM - Glioblastoma multiforme(134;0.04)		GTTGATTTCCGACTGAAAACT	0.383																																						ENST00000543227.1																			0				breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(1141-1143)Cgg>Tgg		zinc finger protein 611		G	TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG	1,4403		0,1,2201	54	55	54		1141,1141,934,1141	1.5	0	19	dbSNP_134	54	0,8598		0,0,4299	no	missense,missense,missense,missense	ZNF611	NM_001161499.1,NM_001161500.1,NM_001161501.1,NM_030972.3	101,101,101,101	0,1,6500	AA,AG,GG		0.0,0.0227,0.0077	benign,benign,benign,benign	381/706,381/706,312/637,381/706	53209167	1,13001	2202	4299	6501	SO:0001583	missense	81856				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53209167G>A	AK091389	CCDS12855.1, CCDS54312.1	19q13.42	2013-01-08			ENSG00000213020	ENSG00000213020		"Zinc fingers, C2H2-type", "-"	28766	protein-coding gene	gene with protein product						12477932	Standard	NM_030972		Approved	MGC5384	uc010ydq.2	Q8N823	OTTHUMG00000154908	ENST00000319783.1:c.1141C>T	19.37:g.53209167G>A	ENSP00000322427:p.Arg381Trp					ZNF611_ENST00000540744.1_Missense_Mutation_p.R381W|ZNF611_ENST00000319783.1_Missense_Mutation_p.R381W|ZNF611_ENST00000453741.2_Missense_Mutation_p.R312W|ZNF611_ENST00000602162.1_Missense_Mutation_p.R312W|ZNF611_ENST00000595798.1_Missense_Mutation_p.R312W	p.R381W	NM_001161499.1	NP_001154971.1	Q8N823	ZN611_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0233)|GBM - Glioblastoma multiforme(134;0.04)	6	1415	-			381					B3KRD5|Q69YG9	Missense_Mutation	SNP	ENST00000319783.1	37	c.1141C>T	CCDS12855.1	.	.	.	.	.	.	.	.	.	.	.	10.73	1.433272	0.25813	2.27E-4	0.0	ENSG00000213020	ENST00000543227;ENST00000540744;ENST00000453741;ENST00000319783	T;T;T;T	0.19806	2.37;2.37;2.12;2.37	1.47	1.47	0.22746	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.19927	0.0479	M	0.61703	1.905	0.09310	N	1	B	0.20459	0.045	B	0.16289	0.015	T	0.19095	-1.0316	9	0.32370	T	0.25	.	7.4554	0.27264	0.0:0.2728:0.7272:0.0	.	381	Q8N823	ZN611_HUMAN	W	381;381;312;381	ENSP00000437616:R381W;ENSP00000439211:R381W;ENSP00000443505:R312W;ENSP00000322427:R381W	ENSP00000322427:R381W	R	-	1	2	ZNF611	57900979	0.000000	0.05858	0.022000	0.16811	0.097000	0.18754	-2.038000	0.01419	0.788000	0.33755	0.194000	0.17425	CGG		0.383	ZNF611-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337612.1	NM_030972		6	87	0	0	0	0.021553	0	6	87					A	53209167	G	A	53209167	3	1	206	1	0	0	0	0	1	0	0	0	18034	1057	37	2	980	2	ZNF611	19	53209167	Missense_Mutation	SNP	G	TCGA-HC-7230-01A-11D-2114-08	936448	53209167	5919816	36	9503											
TMEM189-UBE2V1	7335	broad.mit.edu	37	chr20	48713342	48713342	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cttccaacagtcggaaattgCgagggacttttactcctaaa	12	11	8	10	2	0	0	0	0	0	0	3	3	2	2	2	2	3	0	2	2	5	5			TCGA-HC-7230-01A-11D-2114-08	TCGA-HC-7230-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8733559-f04a-4325-b92b-4508013a853b	3c4dfdcc-2193-4780-bd67-716947ce87f2	g.chr20:48713342C>A	ENST00000371674.3	-	2	82	c.38G>T	c.(37-39)cGc>cTc	p.R13L	UBE2V1_ENST00000420027.2_Intron|UBE2V1_ENST00000415862.2_Intron|UBE2V1_ENST00000396059.3_Intron|UBE2V1_ENST00000340309.3_Missense_Mutation_p.R36L|TMEM189-UBE2V1_ENST00000341698.2_Missense_Mutation_p.R236L|TMEM189_ENST00000557021.1_Missense_Mutation_p.R236L|UBE2V1_ENST00000371657.5_Missense_Mutation_p.R13L|UBE2V1_ENST00000371677.3_Missense_Mutation_p.R36L	NM_001032288.2|NM_001257395.1	NP_001027459.1|NP_001244324.1	Q13404	UB2V1_HUMAN	ubiquitin-conjugating enzyme E2 variant 1	13					cell differentiation (GO:0030154)|error-free postreplication DNA repair (GO:0042275)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription, DNA-templated (GO:0045893)|protein K63-linked ubiquitination (GO:0070534)|protein polyubiquitination (GO:0000209)|regulation of DNA repair (GO:0006282)|regulation of transcription, DNA-templated (GO:0006355)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|protein complex (GO:0043234)|UBC13-UEV1A complex (GO:0035370)|ubiquitin conjugating enzyme complex (GO:0031371)|ubiquitin ligase complex (GO:0000151)	acid-amino acid ligase activity (GO:0016881)|ubiquitin-protein transferase activity (GO:0004842)			endometrium(2)|large_intestine(3)|lung(4)	9			BRCA - Breast invasive adenocarcinoma(9;4.74e-06)			TCGGAAATTGCGAGGGACTTT	0.448																																						ENST00000557021.1																			0				breast(1)|endometrium(2)|large_intestine(3)|lung(2)	8						c.(706-708)cGc>cTc		transmembrane protein 189							78	79	79					20																	48713342		2203	4300	6503	SO:0001583	missense	387521							g.chr20:48713342C>A	U39360	CCDS13426.1, CCDS13427.1, CCDS33483.1, CCDS58775.1, CCDS74740.1	20q13.2	2007-07-18			ENSG00000244687	ENSG00000244687		"Ubiquitin-conjugating enzymes E2"	12494	protein-coding gene	gene with protein product		602995		UBE2V		9418904, 9305758	Standard	NM_001032288		Approved	UEV-1, CROC-1, UEV1A, CROC1		Q13404	OTTHUMG00000152626	ENST00000371674.3:c.38G>T	20.37:g.48713342C>A	ENSP00000360739:p.Arg13Leu					UBE2V1_ENST00000415862.2_Intron|UBE2V1_ENST00000371677.3_Missense_Mutation_p.R36L|UBE2V1_ENST00000371674.3_Missense_Mutation_p.R13L|UBE2V1_ENST00000371657.5_Missense_Mutation_p.R13L|UBE2V1_ENST00000340309.3_Missense_Mutation_p.R36L|TMEM189-UBE2V1_ENST00000341698.2_Missense_Mutation_p.R236L|UBE2V1_ENST00000396059.3_Intron|UBE2V1_ENST00000420027.2_Intron	p.R236L	NM_199203.2	NP_954673.1			BRCA - Breast invasive adenocarcinoma(9;3.02e-07)		6	867	-								E1P629|Q13403|Q13532|Q5TGE0|Q5TGE3|Q96H34|Q9GZT0|Q9GZW1|Q9H4J3|Q9H4J4|Q9UKL1|Q9UM48|Q9UM49|Q9UM50	Missense_Mutation	SNP	ENST00000371674.3	37	c.707G>T	CCDS33483.1	.	.	.	.	.	.	.	.	.	.	C	35	5.544333	0.96488	.	.	ENSG00000124208;ENSG00000244687;ENSG00000244687;ENSG00000244687;ENSG00000244687;ENSG00000240849	ENST00000341698;ENST00000371657;ENST00000371674;ENST00000340309;ENST00000371677;ENST00000557021	T;T;T;T;T;T	0.07444	3.19;3.19;3.19;3.19;3.19;3.19	5.86	5.86	0.93980	Ubiquitin-conjugating enzyme/RWD-like (2);	0.000000	0.48767	U	0.000167	T	0.36026	0.0952	M	0.90309	3.105	0.80722	D	1	D;P;P	0.69078	0.997;0.954;0.955	P;P;P	0.61397	0.814;0.888;0.698	T	0.13629	-1.0502	10	0.46703	T	0.11	-11.5502	20.5632	0.99335	0.0:1.0:0.0:0.0	.	236;36;13	G3V2F7;Q13404-7;Q13404	.;.;UB2V1_HUMAN	L	236;13;13;36;36;236	ENSP00000344166:R236L;ENSP00000360720:R13L;ENSP00000360739:R13L;ENSP00000340305:R36L;ENSP00000360742:R36L;ENSP00000450635:R236L	ENSP00000344166:R236L	R	-	2	0	TMEM189-UBE2V1;UBE2V1;TMEM189	48146749	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.750000	0.85110	2.937000	0.99478	0.650000	0.86243	CGC		0.448	UBE2V1-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000080530.1	NM_021988		4	104	1	0	0.150653	0.150653	0.152936	4	104					A	48713342	C	A	48713342	3	1	206	1	0	0	0	0	1	0	0	0	16109	768	27	5	417	5	TMEM189-UBE2V1	20	48713342	Missense_Mutation	SNP	C	TCGA-HC-7230-01A-11D-2114-08		48713342	14312178	37	9504											
CYYR1	116159	broad.mit.edu	37	chr21	27840931	27840931	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagtattccatctcgtggtcGtgaccgtagggtggtggtcc	5	12	14	10	3	1	1	0	1	1	0	5	1	3	1	3	4	0	2	3	4	2	3	rs576432831		TCGA-HC-7230-01A-11D-2114-08	TCGA-HC-7230-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8733559-f04a-4325-b92b-4508013a853b	3c4dfdcc-2193-4780-bd67-716947ce87f2	g.chr21:27840931G>A	ENST00000299340.4	-	4	697	c.354C>T	c.(352-354)caC>caT	p.H118H	AP001596.6_ENST00000444306.1_RNA|CYYR1_ENST00000435845.2_3'UTR|AP001596.6_ENST00000429340.1_RNA|AP001597.1_ENST00000414486.1_RNA|AP001597.1_ENST00000357401.3_RNA|AP001596.6_ENST00000421771.1_RNA	NM_052954.2	NP_443186.1	Q96J86	CYYR1_HUMAN	cysteine/tyrosine-rich 1	118						integral component of membrane (GO:0016021)		p.H118H(1)		large_intestine(2)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	15						TCTCGTGGTCGTGACCGTAGG	0.527													G|||	1	0.000199681	0	0.0014	5008	,	,		19304	0		0	False		,,,				2504	0					ENST00000299340.4																			1	Substitution - coding silent(1)	p.H118H(1)	pancreas(1)	large_intestine(2)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	15						c.(352-354)caC>caT		cysteine/tyrosine-rich 1							113	92	99					21																	27840931		2203	4300	6503	SO:0001819	synonymous_variant	116159					integral to membrane		g.chr21:27840931G>A	AY061853	CCDS13578.1	21q21.2	2014-07-04	2005-07-24		ENSG00000166265	ENSG00000166265			16274	protein-coding gene	gene with protein product			"cysteine and tyrosine-rich 1"	C21orf95		12036297, 12062809, 24981926	Standard	NM_052954		Approved		uc002ymd.3	Q96J86	OTTHUMG00000078689	ENST00000299340.4:c.354C>T	21.37:g.27840931G>A						CYYR1_ENST00000435845.2_3'UTR|AP001596.6_ENST00000421771.1_RNA|AP001596.6_ENST00000429340.1_RNA|AP001596.6_ENST00000444306.1_RNA|AP001597.1_ENST00000414486.1_RNA|AP001597.1_ENST00000357401.3_RNA	p.H118H	NM_052954.2	NP_443186.1	Q96J86	CYYR1_HUMAN			4	697	-			118					A0A059TD09|A8MTU9|B2R845|Q53ER3|Q5JPD0|Q96NV7|R9QAJ4|W8CQB3	Silent	SNP	ENST00000299340.4	37	c.354C>T	CCDS13578.1																																																																																				0.527	CYYR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171654.2	NM_052954		45	67	0	0	0	0.139131	0	45	67					A	27840931	G	A	27840931	2	1	206	1	0	0	0	0	0	0	0	1	4211	1136	40	1		1	CYYR1	21	27840931	Silent	SNP	G	TCGA-HC-7230-01A-11D-2114-08		27840931	20288964	38	9505											
SLC37A1	54020	broad.mit.edu	37	chr21	43967227	43967227	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttcagatccgaacgacgtcAggtgctcctccaccctggtg	7	10	10	14	3	2	1	2	0	0	1	5	3	5	1	4	2	2	1	4	2	1	1			TCGA-HC-7230-01A-11D-2114-08	TCGA-HC-7230-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8733559-f04a-4325-b92b-4508013a853b	3c4dfdcc-2193-4780-bd67-716947ce87f2	g.chr21:43967227A>C	ENST00000352133.2	+	9	1727	c.745A>C	c.(745-747)Agg>Cgg	p.R249R	SLC37A1_ENST00000398341.3_Silent_p.R249R			P57057	GLPT_HUMAN	solute carrier family 37 (glucose-6-phosphate transporter), member 1	249					carbohydrate transport (GO:0008643)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	transporter activity (GO:0005215)			breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|liver(2)|lung(3)	15						GAACGACGTCAGGTGCTCCTC	0.552																																						ENST00000352133.2																			0				breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|liver(2)|lung(3)	15						c.(745-747)Agg>Cgg		solute carrier family 37 (glucose-6-phosphate transporter), member 1							332	243	273					21																	43967227		2203	4300	6503	SO:0001819	synonymous_variant	54020				carbohydrate transport|transmembrane transport	integral to membrane		g.chr21:43967227A>C	AJ269529	CCDS13689.1	21q22.3	2013-07-17	2013-07-17		ENSG00000160190	ENSG00000160190		"Solute carriers"	11024	protein-coding gene	gene with protein product		608094	"solute carrier family 37 (glycerol-3-phosphate transporter), member 1"			11112347	Standard	NM_018964		Approved		uc002zbi.3	P57057	OTTHUMG00000086803	ENST00000352133.2:c.745A>C	21.37:g.43967227A>C						SLC37A1_ENST00000398341.3_Silent_p.R249R	p.R249R			P57057	GLPT_HUMAN			9	1727	+			249					D3DSJ7|Q9HAQ1	Silent	SNP	ENST00000352133.2	37	c.745A>C	CCDS13689.1																																																																																				0.552	SLC37A1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195377.1			27	118	0	0	0	0.153744	0	27	118					C	43967227	A	C	43967227	2	2	206	1	0	0	0	0	0	0	0	1	14597	179	7	5		5	SLC37A1	21	43967227	Silent	SNP	A	TCGA-HC-7230-01A-11D-2114-08	16126296	43967227	4162668	39	9506											
TLR7	51284	broad.mit.edu	37	chrX	12904067	12904067	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agagataccgcagggcctccCgcctagcttacagcttctca	9	8	9	15	2	1	1	1	0	1	1	3	2	2	1	4	1	4	3	4	1	3	4			TCGA-HC-7230-01A-11D-2114-08	TCGA-HC-7230-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8733559-f04a-4325-b92b-4508013a853b	3c4dfdcc-2193-4780-bd67-716947ce87f2	g.chrX:12904067C>T	ENST00000380659.3	+	3	579	c.440C>T	c.(439-441)cCg>cTg	p.P147L		NM_016562.3	NP_057646.1	Q9NYK1	TLR7_HUMAN	toll-like receptor 7	147					cellular response to mechanical stimulus (GO:0071260)|defense response to virus (GO:0051607)|I-kappaB phosphorylation (GO:0007252)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|microglial cell activation involved in immune response (GO:0002282)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of chemokine production (GO:0032722)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-alpha biosynthetic process (GO:0045356)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 biosynthetic process (GO:0045416)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|toll-like receptor 7 signaling pathway (GO:0034154)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	cytoplasm (GO:0005737)|early phagosome (GO:0032009)|endolysosome membrane (GO:0036020)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|endosome (GO:0005768)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	double-stranded RNA binding (GO:0003725)|drug binding (GO:0008144)|single-stranded RNA binding (GO:0003727)|siRNA binding (GO:0035197)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(4)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	44					Hydroxychloroquine(DB01611)|Imiquimod(DB00724)	CAGGGCCTCCCGCCTAGCTTA	0.458																																						ENST00000380659.3																			0				NS(1)|breast(4)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	44						c.(439-441)cCg>cTg		toll-like receptor 7	Imiquimod(DB00724)						55	56	56					X																	12904067		2203	4300	6503	SO:0001583	missense	51284				cellular response to mechanical stimulus|defense response to virus|I-kappaB phosphorylation|inflammatory response|innate immune response|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus	early phagosome|endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosome|plasma membrane	double-stranded RNA binding|single-stranded RNA binding|siRNA binding|transmembrane receptor activity	g.chrX:12904067C>T	AF240467	CCDS14151.1	Xp22.3	2008-02-05			ENSG00000196664	ENSG00000196664			15631	protein-coding gene	gene with protein product		300365				11022119	Standard	NM_016562		Approved		uc004cvc.3	Q9NYK1	OTTHUMG00000021137	ENST00000380659.3:c.440C>T	X.37:g.12904067C>T	ENSP00000370034:p.Pro147Leu						p.P147L	NM_016562.3	NP_057646.1	Q9NYK1	TLR7_HUMAN			3	579	+			147					D1CS69|Q9NR98	Missense_Mutation	SNP	ENST00000380659.3	37	c.440C>T	CCDS14151.1	.	.	.	.	.	.	.	.	.	.	C	16.04	3.008658	0.54361	.	.	ENSG00000196664	ENST00000380659	T	0.01313	5.02	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	T	0.06690	0.0171	L	0.48260	1.515	0.80722	D	1	D	0.89917	1.0	D	0.76071	0.987	T	0.19712	-1.0297	10	0.87932	D	0	.	18.7273	0.91718	0.0:1.0:0.0:0.0	.	147	Q9NYK1	TLR7_HUMAN	L	147	ENSP00000370034:P147L	ENSP00000370034:P147L	P	+	2	0	TLR7	12813988	1.000000	0.71417	0.392000	0.26245	0.026000	0.11368	7.766000	0.85320	2.368000	0.80403	0.589000	0.80489	CCG		0.458	TLR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055769.1	NM_016562		39	12	0	0	0	0.092188	0	39	12					T	12904067	C	T	12904067	3	4	206	1	0	0	0	0	1	0	0	0	15953	652	23	2	446	2	TLR7	23	12904067	Missense_Mutation	SNP	C	TCGA-HC-7230-01A-11D-2114-08		12904067	142366493	40	9507											
PHKA1	5255	broad.mit.edu	37	chrX	71840634	71840634	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttaagtcgcaggttgtttgcAcagcagcttggaaccgatct	9	12	11	9	2	1	0	0	0	1	0	2	2	1	1	1	2	4	6	1	2	2	4			TCGA-HC-7230-01A-11D-2114-08	TCGA-HC-7230-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8733559-f04a-4325-b92b-4508013a853b	3c4dfdcc-2193-4780-bd67-716947ce87f2	g.chrX:71840634A>T	ENST00000373542.4	-	19	2237	c.2078T>A	c.(2077-2079)gTg>gAg	p.V693E	PHKA1_ENST00000339490.3_Missense_Mutation_p.V693E|PHKA1_ENST00000541944.1_Intron|PHKA1_ENST00000373539.3_Missense_Mutation_p.V693E|PHKA1_ENST00000373545.3_Intron	NM_002637.3	NP_002628.2	P46020	KPB1_HUMAN	phosphorylase kinase, alpha 1 (muscle)	693					carbohydrate metabolic process (GO:0005975)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|glycogen metabolic process (GO:0005977)|protein phosphorylation (GO:0006468)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)|phosphorylase kinase activity (GO:0004689)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(2)|lung(18)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	52	Renal(35;0.156)					GGTTGTTTGCACAGCAGCTTG	0.517																																						ENST00000339490.3																			0				NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(2)|lung(18)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						c.(2077-2079)gTg>gAg		phosphorylase kinase, alpha 1 (muscle)							151	102	119					X																	71840634		2203	4300	6503	SO:0001583	missense	5255				glucose metabolic process|glycogen catabolic process	cytosol|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity	g.chrX:71840634A>T		CCDS14421.1, CCDS48137.1, CCDS55453.1	Xq12-q13	2009-07-10			ENSG00000067177	ENSG00000067177	2.7.11.19		8925	protein-coding gene	gene with protein product		311870		PHKA			Standard	NM_002637		Approved		uc004eax.4	P46020	OTTHUMG00000022696	ENST00000373542.4:c.2078T>A	X.37:g.71840634A>T	ENSP00000362643:p.Val693Glu					PHKA1_ENST00000373539.3_Missense_Mutation_p.V693E|PHKA1_ENST00000541944.1_Intron|PHKA1_ENST00000373545.3_Intron|PHKA1_ENST00000373542.4_Missense_Mutation_p.V693E	p.V693E	NM_001122670.1	NP_001116142.1	P46020	KPB1_HUMAN			19	2378	-	Renal(35;0.156)		693					B7ZL05|B7ZL07|Q2M3D7	Missense_Mutation	SNP	ENST00000373542.4	37	c.2078T>A	CCDS14421.1	.	.	.	.	.	.	.	.	.	.	A	13.02	2.113578	0.37339	.	.	ENSG00000067177	ENST00000373542;ENST00000339490;ENST00000373539	D;D;D	0.90676	-2.71;-2.71;-2.7	5.58	4.38	0.52667	Glycoside hydrolase 15-related (1);	0.180712	0.49916	D	0.000137	D	0.83266	0.5217	L	0.33710	1.025	0.80722	D	1	B;B	0.13145	0.007;0.004	B;B	0.15052	0.011;0.012	T	0.73493	-0.3965	10	0.20046	T	0.44	.	8.9849	0.35988	0.832:0.0:0.0:0.168	.	693;693	P46020-2;P46020	.;KPB1_HUMAN	E	693	ENSP00000362643:V693E;ENSP00000342469:V693E;ENSP00000362640:V693E	ENSP00000342469:V693E	V	-	2	0	PHKA1	71757359	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	4.460000	0.60108	0.690000	0.31570	0.486000	0.48141	GTG		0.517	PHKA1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058896.1			4	45	0	0	0	0.02938	0	4	45					T	71840634	A	T	71840634	3	4	206	1	0	0	0	0	1	0	0	0	11843	159	6	5	1649	5	PHKA1	23	71840634	Missense_Mutation	SNP	A	TCGA-HC-7230-01A-11D-2114-08	58936567	71840634	83429926	41	9508											
GPR50	9248	broad.mit.edu	37	chrX	150348881	150348881	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gcaagatccccaactggcttTatcttgcagcctacttcata	10	12	6	13	0	2	1	1	0	1	1	3	1	3	1	3	1	4	3	3	1	5	6			TCGA-HC-7230-01A-11D-2114-08	TCGA-HC-7230-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8733559-f04a-4325-b92b-4508013a853b	3c4dfdcc-2193-4780-bd67-716947ce87f2	g.chrX:150348881T>C	ENST00000218316.3	+	2	895	c.826T>C	c.(826-828)Tat>Cat	p.Y276H	GPR50-AS1_ENST00000454196.1_RNA|AF003625.3_ENST00000602313.1_lincRNA	NM_004224.3	NP_004215.2	Q13585	MTR1L_HUMAN	G protein-coupled receptor 50	276					cell-cell signaling (GO:0007267)|G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)|identical protein binding (GO:0042802)|melatonin receptor activity (GO:0008502)			breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	38	Acute lymphoblastic leukemia(192;6.56e-05)					CAACTGGCTTTATCTTGCAGC	0.512																																						ENST00000218316.3																			0				breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	38						c.(826-828)Tat>Cat		G protein-coupled receptor 50							121	116	118					X																	150348881		2074	4203	6277	SO:0001583	missense	9248				cell-cell signaling	integral to plasma membrane	melatonin receptor activity	g.chrX:150348881T>C	U52219	CCDS44012.1	Xq28	2012-08-21			ENSG00000102195	ENSG00000102195		"GPCR / Class A : Orphans"	4506	protein-coding gene	gene with protein product		300207				9933574, 18400093	Standard	NM_004224		Approved	H9, Mel1c	uc010ntg.2	Q13585	OTTHUMG00000024166	ENST00000218316.3:c.826T>C	X.37:g.150348881T>C	ENSP00000218316:p.Tyr276His						p.Y276H	NM_004224.3	NP_004215.2	Q13585	MTR1L_HUMAN			2	895	+	Acute lymphoblastic leukemia(192;6.56e-05)		276					Q0VGG3|Q3ZAR0	Missense_Mutation	SNP	ENST00000218316.3	37	c.826T>C	CCDS44012.1	.	.	.	.	.	.	.	.	.	.	T	15.63	2.890604	0.52014	.	.	ENSG00000102195	ENST00000218316	T	0.57273	0.41	4.24	4.24	0.50183	GPCR, rhodopsin-like superfamily (1);	0.054058	0.85682	D	0.000000	T	0.44623	0.1302	L	0.38953	1.18	0.46478	D	0.999069	B	0.25809	0.135	B	0.31290	0.127	T	0.47623	-0.9103	10	0.87932	D	0	-11.3917	10.7432	0.46166	0.0:0.0:0.0:1.0	.	276	Q13585	MTR1L_HUMAN	H	276	ENSP00000218316:Y276H	ENSP00000218316:Y276H	Y	+	1	0	GPR50	150099539	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.058000	0.64300	1.498000	0.48600	0.381000	0.24937	TAT		0.512	GPR50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060874.1	NM_004224		4	83	0	0	0	0.150653	0	4	83					C	150348881	T	C	150348881	3	2	206	1	0	0	0	0	1	0	0	0	6697	1754	61	4	832	4	GPR50	23	150348881	Missense_Mutation	SNP	T	TCGA-HC-7230-01A-11D-2114-08	78508247	150348881	4921679	42	9509											
CASZ1	54897	broad.mit.edu	37	chr1	10706334	10706334	+	Frame_Shift_Del	DEL	G	G	-																															gcagttcccaaagagacagtGgaagtggaacttgttggcgt																										TCGA-HC-7231-01A-11D-2114-08	TCGA-HC-7231-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d995ea6-3c34-4bbb-a828-25f95800d404	b981708f-4f68-41ff-9f80-20bb1d64d4fc	g.chr1:10706334delG	ENST00000377022.3	-	17	3864	c.3547delC	c.(3547-3549)cacfs	p.H1183fs	RP4-734G22.3_ENST00000606802.1_RNA	NM_001079843.2	NP_001073312.1	Q86V15	CASZ1_HUMAN	castor zinc finger 1	1183					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|large_intestine(13)|lung(18)|ovary(2)|prostate(5)|skin(2)|urinary_tract(1)	54	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)		AAGAGACAGTGGAAGTGGAAC	0.547																																						ENST00000377022.3																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|large_intestine(13)|lung(18)|ovary(2)|prostate(5)|skin(2)|urinary_tract(1)	54						c.(3547-3549)acfs		castor zinc finger 1							167	186	180					1																	10706334		2138	4231	6369	SO:0001589	frameshift_variant	54897				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding	g.chr1:10706334delG	AK000328	CCDS120.2, CCDS41246.1	1p36.22	2013-01-07	2007-02-02		ENSG00000130940	ENSG00000130940		"Zinc fingers, C2H2-type"	26002	protein-coding gene	gene with protein product	"zinc finger protein 693", "survival related gene"	609895	"castor homolog 1, zinc finger (Drosophila)"			16631614, 21252912	Standard	NM_001079843		Approved	FLJ20321, ZNF693, castor, cst, SRG	uc001aro.4	Q86V15	OTTHUMG00000002035	ENST00000377022.3:c.3547delC	1.37:g.10706334delG	ENSP00000366221:p.His1183fs					RP4-734G22.3_ENST00000606802.1_RNA	p.H1183fs	NM_001079843.1	NP_001073312.1	Q86V15	CASZ1_HUMAN	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)	17	3864	-	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	1183					Q078S9|Q2EN02|Q5T9S1|Q6ZNM8|Q8WX49|Q8WX50|Q9BT16|Q9NXC6	Frame_Shift_Del	DEL	ENST00000377022.3	37	c.3547delC	CCDS41246.1																																																																																				0.547	CASZ1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005673.2	NM_017766		28	49						28	49	---	---	---	---	-	10706334	G	-	10706334	7	5	207	1	0	1	0	1	0	0	0	0	2685	1348	47	0	1752	0	CASZ1	1	10706334	Frame_Shift_Del	DEL	G	TCGA-HC-7231-01A-11D-2114-08		10706334	238544287	1	9510											
JAK1	3716	broad.mit.edu	37	chr1	65309872	65309872	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtcctcaacacactcaggagCaatccatgggattcgttcaa	12	9	8	12	1	3	0	3	0	0	0	6	2	5	2	2	2	2	2	2	2	3	2			TCGA-HC-7231-01A-11D-2114-08	TCGA-HC-7231-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d995ea6-3c34-4bbb-a828-25f95800d404	b981708f-4f68-41ff-9f80-20bb1d64d4fc	g.chr1:65309872C>T	ENST00000342505.4	-	17	2526	c.2278G>A	c.(2278-2280)Gct>Act	p.A760T	JAK1_ENST00000465376.1_5'UTR	NM_002227.2	NP_002218.2	P23458	JAK1_HUMAN	Janus kinase 1	760	Protein kinase 1. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cytokine-mediated signaling pathway (GO:0019221)|enzyme linked receptor protein signaling pathway (GO:0007167)|interferon-gamma-mediated signaling pathway (GO:0060333)|interleukin-2-mediated signaling pathway (GO:0038110)|intracellular signal transduction (GO:0035556)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to antibiotic (GO:0046677)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|growth hormone receptor binding (GO:0005131)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)			breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(48)|kidney(3)|large_intestine(8)|liver(2)|lung(19)|ovary(1)|prostate(12)|skin(1)|soft_tissue(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	120				BRCA - Breast invasive adenocarcinoma(111;0.0485)	Ruxolitinib(DB08877)|Tofacitinib(DB08895)	CACTCAGGAGCAATCCATGGG	0.502			Mis		ALL																																	ENST00000342505.4				Dom	yes		1	1p32.3-p31.3	3716	Mis	Janus kinase 1			L			ALL		0				breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(48)|kidney(3)|large_intestine(8)|liver(2)|lung(19)|ovary(1)|prostate(12)|skin(1)|soft_tissue(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						c.(2278-2280)Gct>Act		Janus kinase 1							165	163	163					1																	65309872		2047	4198	6245	SO:0001583	missense	3716				interferon-gamma-mediated signaling pathway|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to antibiotic|type I interferon-mediated signaling pathway	cytoskeleton|cytosol|endomembrane system|membrane|nucleus	ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity	g.chr1:65309872C>T	M64174	CCDS41346.1	1p32.3-p31.3	2009-07-10	2009-04-23		ENSG00000162434	ENSG00000162434	2.7.10.1		6190	protein-coding gene	gene with protein product		147795		JAK1B		1848670, 7698020	Standard	NM_002227		Approved	JAK1A, JTK3	uc001dbu.1	P23458	OTTHUMG00000009310	ENST00000342505.4:c.2278G>A	1.37:g.65309872C>T	ENSP00000343204:p.Ala760Thr					JAK1_ENST00000465376.1_5'UTR	p.A760T	NM_002227.2	NP_002218.2	P23458	JAK1_HUMAN		BRCA - Breast invasive adenocarcinoma(111;0.0485)	17	2526	-			760			Protein kinase 1.		Q59GQ2|Q9UD26	Missense_Mutation	SNP	ENST00000342505.4	37	c.2278G>A	CCDS41346.1	.	.	.	.	.	.	.	.	.	.	C	23.9	4.475635	0.84640	.	.	ENSG00000162434	ENST00000342505	T	0.59906	0.23	5.37	5.37	0.77165	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	.	.	.	.	T	0.82250	0.4996	H	0.95780	3.72	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.86638	0.1890	9	0.72032	D	0.01	-3.8222	19.3012	0.94144	0.0:1.0:0.0:0.0	.	760	P23458	JAK1_HUMAN	T	760	ENSP00000343204:A760T	ENSP00000343204:A760T	A	-	1	0	JAK1	65082460	1.000000	0.71417	0.797000	0.32132	0.254000	0.26022	7.228000	0.78079	2.786000	0.95864	0.561000	0.74099	GCT		0.502	JAK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025791.1	NM_002227		4	123	0	0	0	0.217242	0	4	123					T	65309872	C	T	65309872	3	4	207	1	0	0	0	0	1	0	0	0	7937	710	25	3	1222	3	JAK1	1	65309872	Missense_Mutation	SNP	C	TCGA-HC-7231-01A-11D-2114-08	54603538	65309872	183940749	2	9511											
SETDB1	9869	broad.mit.edu	37	chr1	150923074	150923075	+	Frame_Shift_Ins	INS	-	-	A																															atggagaagcttttctacttINSacctcatgtctgcagctata																										TCGA-HC-7231-01A-11D-2114-08	TCGA-HC-7231-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d995ea6-3c34-4bbb-a828-25f95800d404	b981708f-4f68-41ff-9f80-20bb1d64d4fc	g.chr1:150923074_150923075insA	ENST00000271640.5	+	13	1911_1912	c.1721_1722insA	c.(1720-1725)ttacctfs	p.P575fs	SETDB1_ENST00000459773.1_Intron|SETDB1_ENST00000368969.4_Frame_Shift_Ins_p.P575fs	NM_001145415.1|NM_012432.3	NP_001138887.1|NP_036564.3	Q15047	SETB1_HUMAN	SET domain, bifurcated 1	575					bone development (GO:0060348)|histone H3-K9 trimethylation (GO:0036124)|inner cell mass cell proliferation (GO:0001833)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)			NS(1)|large_intestine(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|BRCA - Breast invasive adenocarcinoma(12;0.0152)|LUSC - Lung squamous cell carcinoma(543;0.211)			CTTTTCTACTTACCTCATGTCT	0.579																																						ENST00000271640.5																			0				NS(1)|large_intestine(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12						c.(1720-1722)tccfs		SET domain, bifurcated 1																																				SO:0001589	frameshift_variant	9869				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|Golgi apparatus|nucleus|plasma membrane	DNA binding|histone-lysine N-methyltransferase activity|protein binding|zinc ion binding	g.chr1:150923074_150923075insA	D31891	CCDS972.1, CCDS44217.1, CCDS58026.1	1q21	2013-01-23			ENSG00000143379	ENSG00000143379		"Chromatin-modifying enzymes / K-methyltransferases", "Tudor domain containing"	10761	protein-coding gene	gene with protein product	"tudor domain containing 21"	604396				10343109	Standard	NM_001145415		Approved	KG1T, KIAA0067, ESET, KMT1E, TDRD21	uc001evu.2	Q15047	OTTHUMG00000035003	ENST00000271640.5:c.1722dupA	1.37:g.150923075_150923075dupA	ENSP00000271640:p.Pro575fs					SETDB1_ENST00000368969.4_Frame_Shift_Ins_p.S574fs|SETDB1_ENST00000459773.1_Intron	p.S574fs	NM_001145415.1|NM_012432.3	NP_001138887.1|NP_036564.3	Q15047	SETB1_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|BRCA - Breast invasive adenocarcinoma(12;0.0152)|LUSC - Lung squamous cell carcinoma(543;0.211)		13	1911_1912	+	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		574					A6NEW2|Q5SZD8|Q5SZD9|Q5SZE0|Q5SZE7|Q96GM9	Frame_Shift_Ins	INS	ENST00000271640.5	37	c.1721_1722insA	CCDS44217.1																																																																																				0.579	SETDB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000084717.2			43	114						43	114	---	---	---	---	A	150923075	-	A	150923074	7	5	207	1	0	1	1	0	0	0	0	0	14138	1764	61	0	1767	0	SETDB1	1	150923074	Frame_Shift_Ins	INS	-	TCGA-HC-7231-01A-11D-2114-08	85613202	150923074	98327547	3	9512											
OR6Y1	391112	broad.mit.edu	37	chr1	158517227	158517227	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atggtggcaaggatagcagcGtaggatgccaccacaacaca	14	5	12	10	1	0	0	0	0	0	0	0	2	0	2	2	4	4	3	2	4	4	2	rs537972026		TCGA-HC-7231-01A-11D-2114-08	TCGA-HC-7231-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d995ea6-3c34-4bbb-a828-25f95800d404	b981708f-4f68-41ff-9f80-20bb1d64d4fc	g.chr1:158517227G>A	ENST00000302617.3	-	1	668	c.669C>T	c.(667-669)taC>taT	p.Y223Y		NM_001005189.1	NP_001005189.1	Q8NGX8	OR6Y1_HUMAN	olfactory receptor, family 6, subfamily Y, member 1	223						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|kidney(1)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30	all_hematologic(112;0.0378)					GGATAGCAGCGTAGGATGCCA	0.537																																						ENST00000302617.3																			0				NS(1)|kidney(1)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30						c.(667-669)taC>taT		olfactory receptor, family 6, subfamily Y, member 1							115	109	111					1																	158517227		2202	4300	6502	SO:0001819	synonymous_variant	391112				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158517227G>A	BK004192	CCDS30899.1	1q23.1	2012-08-09			ENSG00000197532	ENSG00000197532		"GPCR / Class A : Olfactory receptors"	14823	protein-coding gene	gene with protein product				OR6Y2			Standard	NM_001005189		Approved		uc010pil.2	Q8NGX8	OTTHUMG00000019629	ENST00000302617.3:c.669C>T	1.37:g.158517227G>A							p.Y223Y	NM_001005189.1	NP_001005189.1	Q8NGX8	OR6Y1_HUMAN			1	668	-	all_hematologic(112;0.0378)		223					Q6IFS0	Silent	SNP	ENST00000302617.3	37	c.669C>T	CCDS30899.1																																																																																				0.537	OR6Y1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051844.1	NM_001005189		6	69	0	0	0	0.217242	0	6	69					A	158517227	G	A	158517227	2	1	207	1	0	0	0	0	0	0	0	1	11213	1140	40	1		1	OR6Y1	1	158517227	Silent	SNP	G	TCGA-HC-7231-01A-11D-2114-08	7594153	158517227	90733394	4	9513											
BAT2L2	23215	broad.mit.edu	37	chr1	171560757	171560757	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcagaggttcttcagtccaCgcaacggttcttctctgaac	9	11	9	12	2	4	2	1	1	3	1	6	2	5	2	1	2	3	4	1	2	2	4			TCGA-HC-7231-01A-11D-2114-08	TCGA-HC-7231-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d995ea6-3c34-4bbb-a828-25f95800d404	b981708f-4f68-41ff-9f80-20bb1d64d4fc	g.chr1:171560757C>T	ENST00000338920.4	+	34	8462	c.8225C>T	c.(8224-8226)aCg>aTg	p.T2742M	PRRC2C_ENST00000392078.3_Missense_Mutation_p.T2823M|PRRC2C_ENST00000367742.3_Missense_Mutation_p.T2744M|PRRC2C_ENST00000426496.2_Missense_Mutation_p.T2677M	NM_015172.3	NP_055987.2	Q9Y520	PRC2C_HUMAN	proline-rich coiled-coil 2C	2821					hematopoietic progenitor cell differentiation (GO:0002244)	membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)										CTTCAGTCCACGCAACGGTTC	0.438																																						ENST00000367742.3																			0											c.(8230-8232)aCg>aTg		proline-rich coiled-coil 2C							82	78	79					1																	171560757		1929	4141	6070	SO:0001583	missense	23215						protein C-terminus binding	g.chr1:171560757C>T	AL096857	CCDS1296.2	1q24.3	2012-07-18	2010-12-09	2010-12-09	ENSG00000117523	ENSG00000117523			24903	protein-coding gene	gene with protein product			"BAT2 domain containing 1", "HLA-B associated transcript 2-like 2"	BAT2D1, BAT2L2		10470851, 12443540	Standard	NM_015172		Approved	KIAA1096, XTP2	uc010pmg.2	Q9Y520	OTTHUMG00000034665	ENST00000338920.4:c.8225C>T	1.37:g.171560757C>T	ENSP00000343629:p.Thr2742Met					PRRC2C_ENST00000338920.4_Missense_Mutation_p.T2742M|PRRC2C_ENST00000426496.2_Missense_Mutation_p.T2677M|PRRC2C_ENST00000392078.3_Missense_Mutation_p.T2823M	p.T2744M			Q9Y520	PRC2C_HUMAN			34	8473	+			330					Q05DM8|Q49A39|Q6PD54|Q9H2N2|Q9HA05|Q9NSM8|Q9NXL3|Q9UF29|Q9UPQ6	Missense_Mutation	SNP	ENST00000338920.4	37	c.8231C>T	CCDS1296.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.01|17.01	3.278691|3.278691	0.59758|0.59758	.|.	.|.	ENSG00000117523|ENSG00000117523	ENST00000495585|ENST00000392078;ENST00000451306;ENST00000426496;ENST00000367742;ENST00000338920;ENST00000392080	.|T;T;T;T	.|0.03468	.|3.92;4.11;4.09;4.09	5.93|5.93	5.93|5.93	0.95920|0.95920	.|.	.|.	.|.	.|.	.|.	T|T	0.06872|0.06872	0.0175|0.0175	N|N	0.19112|0.19112	0.55|0.55	0.44254|0.44254	D|D	0.997104|0.997104	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.91635	.|0.994;0.999	T|T	0.49799|0.49799	-0.8901|-0.8901	5|9	.|0.72032	.|D	.|0.01	.|.	20.3495|20.3495	0.98807|0.98807	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|2677;2742	.|B7WNZ6;Q9Y520-4	.|.;.	C|M	1225|2823;2775;2677;2744;2742;2578	.|ENSP00000375928:T2823M;ENSP00000410219:T2677M;ENSP00000356716:T2744M;ENSP00000343629:T2742M	.|ENSP00000343629:T2742M	R|T	+|+	1|2	0|0	PRRC2C|PRRC2C	169827380|169827380	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	7.188000|7.188000	0.77739|0.77739	2.814000|2.814000	0.96858|0.96858	0.591000|0.591000	0.81541|0.81541	CGC|ACG		0.438	PRRC2C-010	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000314826.4	NM_015172		21	34	0	0	0	0.608945	0	21	34					T	171560757	C	T	171560757	3	4	207	1	0	0	0	0	1	0	0	0	1321	536	19	1	8247	1	BAT2L2	1	171560757	Missense_Mutation	SNP	C	TCGA-HC-7231-01A-11D-2114-08	13043530	171560757	77689864	5	9514											
RNF181	51255	broad.mit.edu	37	chr2	85822908	85822908	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tggcgtcctatttcgatgaaCacgactgcgagccgtcggac	8	9	12	12	6	0	1	0	1	0	0	3	5	1	2	2	2	3	0	2	2	2	2			TCGA-HC-7231-01A-11D-2114-08	TCGA-HC-7231-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d995ea6-3c34-4bbb-a828-25f95800d404	b981708f-4f68-41ff-9f80-20bb1d64d4fc	g.chr2:85822908C>T	ENST00000306368.4	+	1	52	c.22C>T	c.(22-24)Cac>Tac	p.H8Y	RNF181_ENST00000441634.1_Missense_Mutation_p.H8Y	NM_016494.3	NP_057578.1	Q9P0P0	RN181_HUMAN	ring finger protein 181	8					protein autoubiquitination (GO:0051865)		ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			lung(1)|stomach(1)	2						TTTCGATGAACACGACTGCGA	0.632																																						ENST00000441634.1																			0				lung(1)|stomach(1)	2						c.(22-24)Cac>Tac		ring finger protein 181							41	36	37					2																	85822908		2203	4300	6503	SO:0001583	missense	51255						ligase activity|zinc ion binding	g.chr2:85822908C>T	AF151072	CCDS1981.1	2p11.2	2013-01-09			ENSG00000168894	ENSG00000168894		"RING-type (C3HC4) zinc fingers"	28037	protein-coding gene	gene with protein product		612490				11042152	Standard	XM_005264359		Approved	HSPC238	uc002spv.1	Q9P0P0	OTTHUMG00000130182	ENST00000306368.4:c.22C>T	2.37:g.85822908C>T	ENSP00000306906:p.His8Tyr					RNF181_ENST00000306368.4_Missense_Mutation_p.H8Y	p.H8Y			Q9P0P0	RN181_HUMAN			1	61	+			8					Q53H81	Missense_Mutation	SNP	ENST00000306368.4	37	c.22C>T	CCDS1981.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.134418	0.77662	.	.	ENSG00000168894	ENST00000441634;ENST00000306368;ENST00000414390	D;D	0.90069	-2.61;-2.61	5.45	5.45	0.79879	.	0.000000	0.85682	D	0.000000	D	0.85609	0.5736	M	0.72118	2.19	0.58432	D	0.999999	P	0.39282	0.666	B	0.35039	0.194	D	0.83996	0.0340	10	0.02654	T	1	.	16.7735	0.85545	0.0:1.0:0.0:0.0	.	8	Q9P0P0	RN181_HUMAN	Y	8	ENSP00000412025:H8Y;ENSP00000306906:H8Y	ENSP00000306906:H8Y	H	+	1	0	RNF181	85676419	1.000000	0.71417	1.000000	0.80357	0.790000	0.44656	6.232000	0.72313	2.573000	0.86826	0.561000	0.74099	CAC		0.632	RNF181-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252500.1	NM_016494		3	32	0	0	0	0.150653	0	3	32					T	85822908	C	T	85822908	3	4	207	1	0	0	0	0	1	0	0	0	13465	478	17	3	24	3	RNF181	2	85822908	Missense_Mutation	SNP	C	TCGA-HC-7231-01A-11D-2114-08		85822908	157376465	6	9515											
C2orf57	165100	broad.mit.edu	37	chr2	232458456	232458456	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctggactccagcctgtacaCggccagtgaggagaacagct	10	6	12	13	1	0	2	0	1	0	1	1	4	1	3	4	3	4	2	4	3	2	1			TCGA-HC-7231-01A-11D-2114-08	TCGA-HC-7231-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d995ea6-3c34-4bbb-a828-25f95800d404	b981708f-4f68-41ff-9f80-20bb1d64d4fc	g.chr2:232458456C>T	ENST00000313965.2	+	1	882	c.794C>T	c.(793-795)aCg>aTg	p.T265M		NM_152614.2	NP_689827.2	Q53QW1	CB057_HUMAN	chromosome 2 open reading frame 57	265								p.T265M(1)		endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|pancreas(1)|prostate(4)|skin(2)	19		Renal(207;0.025)|all_hematologic(139;0.0735)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;1.33e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.014)		AGCCTGTACACGGCCAGTGAG	0.657																																						ENST00000313965.2																			1	Substitution - Missense(1)	p.T265M(1)	prostate(1)	endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|pancreas(1)|prostate(4)|skin(2)	19						c.(793-795)aCg>aTg		chromosome 2 open reading frame 57							80	84	83					2																	232458456		2203	4300	6503	SO:0001583	missense	165100							g.chr2:232458456C>T	BC034405	CCDS2487.1	2q37.1	2008-02-05			ENSG00000177673	ENSG00000177673			28563	protein-coding gene	gene with protein product						12477932	Standard	NM_152614		Approved	MGC35154	uc002vrz.3	Q53QW1	OTTHUMG00000133226	ENST00000313965.2:c.794C>T	2.37:g.232458456C>T	ENSP00000315557:p.Thr265Met						p.T265M	NM_152614.2	NP_689827.2	Q53QW1	CB057_HUMAN		Epithelial(121;1.33e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.014)	1	882	+		Renal(207;0.025)|all_hematologic(139;0.0735)|Acute lymphoblastic leukemia(138;0.164)	265					Q8N4F2	Missense_Mutation	SNP	ENST00000313965.2	37	c.794C>T	CCDS2487.1	.	.	.	.	.	.	.	.	.	.	t	11.17	1.560260	0.27827	.	.	ENSG00000177673	ENST00000313965	T	0.17213	2.29	4.83	-4.99	0.03010	.	.	.	.	.	T	0.05960	0.0155	N	0.04508	-0.205	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.32903	-0.9889	9	0.48119	T	0.1	.	3.6068	0.08045	0.1053:0.249:0.4621:0.1836	.	265	Q53QW1	CB057_HUMAN	M	265	ENSP00000315557:T265M	ENSP00000315557:T265M	T	+	2	0	C2orf57	232166700	0.000000	0.05858	0.000000	0.03702	0.242000	0.25591	-2.877000	0.00717	-1.309000	0.02315	-0.360000	0.07572	ACG		0.657	C2orf57-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256962.1	NM_152614		4	104	0	0	0	0.184627	0	4	104					T	232458456	C	T	232458456	3	4	207	1	0	0	0	0	1	0	0	0	2178	536	19	1	796	1	C2orf57	2	232458456	Missense_Mutation	SNP	C	TCGA-HC-7231-01A-11D-2114-08	146635548	232458456	10740917	7	9516											
CHL1	10752	broad.mit.edu	37	chr3	432831	432831	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgagccttatatatttcaaaCaccagaaggaggtgagagga	15	9	11	6	0	1	3	1	2	0	2	1	6	1	5	2	3	2	0	2	3	5	4			TCGA-HC-7231-01A-11D-2114-08	TCGA-HC-7231-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d995ea6-3c34-4bbb-a828-25f95800d404	b981708f-4f68-41ff-9f80-20bb1d64d4fc	g.chr3:432831C>T	ENST00000256509.2	+	22	3422	c.2780C>T	c.(2779-2781)aCa>aTa	p.T927I	CHL1_ENST00000397491.2_Missense_Mutation_p.T911I	NM_001253387.1|NM_001253388.1|NM_006614.3	NP_001240316.1|NP_001240317.1|NP_006605.2	Q96FC9	DDX11_HUMAN	cell adhesion molecule L1-like	0					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|ATP catabolic process (GO:0006200)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|sister chromatid cohesion (GO:0007062)|viral process (GO:0016032)	midbody (GO:0030496)|nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle pole (GO:0000922)	4 iron, 4 sulfur cluster binding (GO:0051539)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA-dependent ATPase activity (GO:0008094)|double-stranded DNA binding (GO:0003690)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)			NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1)	93		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)		ATATTTCAAACACCAGAAGGA	0.408																																						ENST00000256509.2																			0				NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1)	93						c.(2779-2781)aCa>aTa		cell adhesion molecule L1-like							69	73	71					3																	432831		2201	4298	6499	SO:0001583	missense	10752				axon guidance|cell adhesion|signal transduction	integral to membrane|plasma membrane|proteinaceous extracellular matrix		g.chr3:432831C>T	AF002246	CCDS2556.1, CCDS58812.1, CCDS74887.1	3p26	2013-05-01	2013-05-01		ENSG00000134121	ENSG00000134121		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	1939	protein-coding gene	gene with protein product	"neural cell adhesion molecule", "close homolog of L1"	607416	"cell adhesion molecule with homology to L1CAM (close homologue of L1)", "cell adhesion molecule with homology to L1CAM (close homolog of L1)"			9799093	Standard	NM_006614		Approved	CALL, L1CAM2, FLJ44930, MGC132578	uc003bot.3	O00533	OTTHUMG00000090601	ENST00000256509.2:c.2780C>T	3.37:g.432831C>T	ENSP00000256509:p.Thr927Ile					CHL1_ENST00000397491.2_Missense_Mutation_p.T911I	p.T927I	NM_001253387.1|NM_001253388.1|NM_006614.3	NP_001240316.1|NP_001240317.1|NP_006605.2	O00533	CHL1_HUMAN		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)	22	3422	+		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)	911			Fibronectin type-III 4.		Q13333|Q86VQ4|Q86W62|Q92498|Q92770|Q92998|Q92999	Missense_Mutation	SNP	ENST00000256509.2	37	c.2780C>T	CCDS2556.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	26.6|26.6	4.755880|4.755880	0.89843|0.89843	.|.	.|.	ENSG00000134121|ENSG00000134121	ENST00000445697|ENST00000256509;ENST00000397491	.|T;T	.|0.64803	.|-0.12;-0.12	5.75|5.75	5.75|5.75	0.90469|0.90469	.|Fibronectin, type III (3);Immunoglobulin-like fold (1);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.84092|0.84092	0.5396|0.5396	M|M	0.90019|0.90019	3.08|3.08	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|1.0;1.0;0.997	.|D;D;D	.|0.83275	.|0.996;0.996;0.983	D|D	0.86599|0.86599	0.1865|0.1865	5|10	.|0.87932	.|D	.|0	.|.	19.9244|19.9244	0.97099|0.97099	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|911;911;927	.|B3KX75;O00533;O00533-2	.|.;CHL1_HUMAN;.	Y|I	114|927;911	.|ENSP00000256509:T927I;ENSP00000380628:T911I	.|ENSP00000256509:T927I	H|T	+|+	1|2	0|0	CHL1|CHL1	407831|407831	1.000000|1.000000	0.71417|0.71417	0.986000|0.986000	0.45419|0.45419	0.955000|0.955000	0.61496|0.61496	7.087000|7.087000	0.76893|0.76893	2.712000|2.712000	0.92718|0.92718	0.655000|0.655000	0.94253|0.94253	CAC|ACA		0.408	CHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207155.2	NM_006614		7	60	0	0	0	0.307466	0	7	60					T	432831	C	T	432831	3	4	207	1	0	0	0	0	1	0	0	0	3349	478	17	3	2858	3	CHL1	3	432831	Missense_Mutation	SNP	C	TCGA-HC-7231-01A-11D-2114-08		432831	197589599	8	9517											
C3orf62	375341	broad.mit.edu	37	chr3	49313859	49313859	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aaccatcaaaattagaatcaCcttaaattttcttttctcca	15	15	1	10	0	4	1	2	0	2	1	5	1	4	1	3	0	1	0	3	0	7	6	rs368106088		TCGA-HC-7231-01A-11D-2114-08	TCGA-HC-7231-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d995ea6-3c34-4bbb-a828-25f95800d404	b981708f-4f68-41ff-9f80-20bb1d64d4fc	g.chr3:49313859C>A	ENST00000343010.3	-	1	1483		c.e1+1		MIR4271_ENST00000582451.1_RNA	NM_198562.2	NP_940964.1	Q6ZUJ4	CC062_HUMAN	chromosome 3 open reading frame 62											breast(1)|kidney(1)|large_intestine(1)|lung(3)	6				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		ATTAGAATCACCTTAAATTTT	0.383																																						ENST00000343010.3																			0				breast(1)|kidney(1)|large_intestine(1)|lung(3)	6						c.e1+1		chromosome 3 open reading frame 62		C		1,4405	2.1+/-5.4	0,1,2202	83	79	81			4.8	1	3		81	0,8600		0,0,4300	no	splice-5	C3orf62	NM_198562.2		0,1,6502	AA,AC,CC		0.0,0.0227,0.0077			49313859	1,13005	2203	4300	6503	SO:0001630	splice_region_variant	375341							g.chr3:49313859C>A	AK125642	CCDS2792.1	3p21.31	2006-02-11			ENSG00000188315	ENSG00000188315			24771	protein-coding gene	gene with protein product						12477932	Standard	NM_198562		Approved	FLJ43654	uc003cwn.2	Q6ZUJ4	OTTHUMG00000156819	ENST00000343010.3:c.446+1G>T	3.37:g.49313859C>A								NM_198562.2	NP_940964.1	Q6ZUJ4	CC062_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	1	1483	-								Q6P7E9|Q7Z3X6	Splice_Site	SNP	ENST00000343010.3	37		CCDS2792.1	.	.	.	.	.	.	.	.	.	.	C	17.59	3.428154	0.62844	2.27E-4	0.0	ENSG00000188315	ENST00000343010;ENST00000436325	.	.	.	4.79	4.79	0.61399	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.2104	0.59821	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	C3orf62	49288863	1.000000	0.71417	1.000000	0.80357	0.900000	0.52787	3.939000	0.56591	2.490000	0.84030	0.650000	0.86243	.		0.383	C3orf62-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345990.1	NM_198562	Intron	5	64	1	0	0.014758	0.184627	0.0161928	5	64					A	49313859	C	A	49313859	5	1	207	1	0	0	0	0	0	0	1	0	2238	521	18	5	368	5	C3orf62	3	49313859	Splice_Site	SNP	C	TCGA-HC-7231-01A-11D-2114-08	48881028	49313859	148708571	9	9518											
VGLL3	389136	broad.mit.edu	37	chr3	87018023	87018023	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acgtcatgcatatggctgtaGgatgggctcacctgagatgt	9	11	13	8	1	2	1	2	1	0	1	2	3	2	2	1	3	1	4	1	3	2	2	rs368628256		TCGA-HC-7231-01A-11D-2114-08	TCGA-HC-7231-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d995ea6-3c34-4bbb-a828-25f95800d404	b981708f-4f68-41ff-9f80-20bb1d64d4fc	g.chr3:87018023G>A	ENST00000398399.2	-	3	1017	c.654C>T	c.(652-654)tcC>tcT	p.S218S	VGLL3_ENST00000383698.3_Silent_p.S218S	NM_016206.2	NP_057290.2			vestigial-like family member 3											NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(11)	19	all_cancers(8;0.109)|Lung SC(3;0.184)	Lung NSC(201;0.0777)		LUSC - Lung squamous cell carcinoma(29;0.00241)|Lung(72;0.00712)		TATGGCTGTAGGATGGGCTCA	0.607													G|||	1	0.000199681	0	0	5008	,	,		17442	0.001		0	False		,,,				2504	0					ENST00000398399.2																			0				NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(11)	19						c.(652-654)tcC>tcT		vestigial like 3 (Drosophila)							86	90	88					3																	87018023		2166	4274	6440	SO:0001819	synonymous_variant	389136				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chr3:87018023G>A	AF099505	CCDS43110.1	3p12.1	2014-03-03	2014-03-03		ENSG00000206538	ENSG00000206538			24327	protein-coding gene	gene with protein product		609980	"vestigial like 3 (Drosophila)"			12376544	Standard	NM_016206		Approved	VGL-3	uc003dqn.3	A8MV65	OTTHUMG00000158984	ENST00000398399.2:c.654C>T	3.37:g.87018023G>A						VGLL3_ENST00000383698.3_Silent_p.S218S	p.S218S	NM_016206.2	NP_057290.2	A8MV65	VGLL3_HUMAN		LUSC - Lung squamous cell carcinoma(29;0.00241)|Lung(72;0.00712)	3	1017	-	all_cancers(8;0.109)|Lung SC(3;0.184)	Lung NSC(201;0.0777)	218						Silent	SNP	ENST00000398399.2	37	c.654C>T	CCDS43110.1																																																																																				0.607	VGLL3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000352805.1	NM_016206		34	95	0	0	0	0.840704	0	34	95					A	87018023	G	A	87018023	2	1	207	1	0	0	0	0	0	0	0	1	17157	987	35	3		3	VGLL3	3	87018023	Silent	SNP	G	TCGA-HC-7231-01A-11D-2114-08	37704164	87018023	111004407	10	9519											
IMPG2	50939	broad.mit.edu	37	chr3	100964785	100964785	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gaagagctgaggcccatcttCgagggaaaggctaatttgtg	11	9	14	7	1	1	2	0	1	1	1	2	5	1	3	1	3	1	2	1	3	3	3			TCGA-HC-7231-01A-11D-2114-08	TCGA-HC-7231-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d995ea6-3c34-4bbb-a828-25f95800d404	b981708f-4f68-41ff-9f80-20bb1d64d4fc	g.chr3:100964785C>T	ENST00000193391.7	-	12	1591	c.1404G>A	c.(1402-1404)tcG>tcA	p.S468S		NM_016247.3	NP_057331.2	Q9BZV3	IMPG2_HUMAN	interphotoreceptor matrix proteoglycan 2	468					visual perception (GO:0007601)	integral component of membrane (GO:0016021)|proteinaceous extracellular matrix (GO:0005578)|receptor complex (GO:0043235)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|hyaluronic acid binding (GO:0005540)			NS(1)|breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(14)|lung(32)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64					Hyaluronan(DB08818)	GGCCCATCTTCGAGGGAAAGG	0.517																																						ENST00000193391.7																			0				NS(1)|breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(14)|lung(32)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						c.(1402-1404)tcG>tcA		interphotoreceptor matrix proteoglycan 2							103	106	105					3																	100964785		2203	4300	6503	SO:0001819	synonymous_variant	50939				visual perception	integral to membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|heparin binding|hyaluronic acid binding|receptor activity	g.chr3:100964785C>T	AF173155	CCDS2940.1	3q12.2-q12.3	2014-01-28			ENSG00000081148	ENSG00000081148			18362	protein-coding gene	gene with protein product		607056				10542133	Standard	NM_016247		Approved	IPM200, RP56	uc003duq.2	Q9BZV3	OTTHUMG00000159091	ENST00000193391.7:c.1404G>A	3.37:g.100964785C>T							p.S468S	NM_016247.3	NP_057331.2	Q9BZV3	IMPG2_HUMAN			12	1591	-			468					A8MWT5|Q9UKD4|Q9UKK5	Silent	SNP	ENST00000193391.7	37	c.1404G>A	CCDS2940.1																																																																																				0.517	IMPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353256.3			9	79	0	0	0	0.335167	0	9	79					T	100964785	C	T	100964785	2	4	207	1	0	0	0	0	0	0	0	1	7729	871	31	2		2	IMPG2	3	100964785	Silent	SNP	C	TCGA-HC-7231-01A-11D-2114-08	13946762	100964785	97057645	11	9520											
ZBTB11	27107	broad.mit.edu	37	chr3	101383903	101383903	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgccccttcattaacagaacGttgtcgaagcctgcttctat	9	13	7	12	2	2	1	1	0	1	1	3	2	2	1	3	0	5	2	3	0	4	5			TCGA-HC-7231-01A-11D-2114-08	TCGA-HC-7231-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d995ea6-3c34-4bbb-a828-25f95800d404	b981708f-4f68-41ff-9f80-20bb1d64d4fc	g.chr3:101383903G>A	ENST00000312938.4	-	4	2108	c.1528C>T	c.(1528-1530)Cgt>Tgt	p.R510C	Y_RNA_ENST00000364251.1_RNA	NM_014415.3	NP_055230.2	O95625	ZBT11_HUMAN	zinc finger and BTB domain containing 11	510					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						TTAACAGAACGTTGTCGAAGC	0.428																																						ENST00000312938.4																			0				breast(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						c.(1528-1530)Cgt>Tgt		zinc finger and BTB domain containing 11							199	185	189					3																	101383903		2203	4300	6503	SO:0001583	missense	27107				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr3:101383903G>A	U69274	CCDS2943.1	3q12.3	2013-01-09			ENSG00000066422	ENSG00000066422		"-", "BTB/POZ domain containing", "Zinc fingers, C2H2-type"	16740	protein-coding gene	gene with protein product							Standard	NM_014415		Approved	ZNF-U69274, ZNF913	uc003dve.4	O95625	OTTHUMG00000159133	ENST00000312938.4:c.1528C>T	3.37:g.101383903G>A	ENSP00000326200:p.Arg510Cys						p.R510C	NM_014415.3	NP_055230.2	O95625	ZBT11_HUMAN			4	2108	-			510					Q2NKP9	Missense_Mutation	SNP	ENST00000312938.4	37	c.1528C>T	CCDS2943.1	.	.	.	.	.	.	.	.	.	.	G	14.45	2.537879	0.45176	.	.	ENSG00000066422	ENST00000312938	T	0.14266	2.52	6.03	6.03	0.97812	.	0.052424	0.85682	D	0.000000	T	0.12135	0.0295	L	0.34521	1.04	0.80722	D	1	B	0.27068	0.167	B	0.17433	0.018	T	0.02683	-1.1124	10	0.66056	D	0.02	-18.8379	13.7134	0.62682	0.0699:0.0:0.9301:0.0	.	510	O95625	ZBT11_HUMAN	C	510	ENSP00000326200:R510C	ENSP00000326200:R510C	R	-	1	0	ZBTB11	102866593	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	5.489000	0.66875	2.861000	0.98227	0.655000	0.94253	CGT		0.428	ZBTB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353441.2	NM_014415		9	119	0	0	0	0.38729	0	9	119					A	101383903	G	A	101383903	3	1	207	1	0	0	0	0	1	0	0	0	17521	1145	40	1	1665	1	ZBTB11	3	101383903	Missense_Mutation	SNP	G	TCGA-HC-7231-01A-11D-2114-08	419118	101383903	96638527	12	9521											
IQCB1	9657	broad.mit.edu	37	chr3	121500652	121500652	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aactcggcgtgcatcagtgaGttcttggagtcctcgccaag	8	10	12	11	3	2	1	1	1	1	0	5	2	3	2	2	2	2	2	2	2	2	2			TCGA-HC-7231-01A-11D-2114-08	TCGA-HC-7231-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d995ea6-3c34-4bbb-a828-25f95800d404	b981708f-4f68-41ff-9f80-20bb1d64d4fc	g.chr3:121500652G>C	ENST00000310864.6	-	13	1562	c.1348C>G	c.(1348-1350)Ctc>Gtc	p.L450V	IQCB1_ENST00000349820.6_Missense_Mutation_p.L317V	NM_001023570.2	NP_001018864.2	Q15051	IQCB1_HUMAN	IQ motif containing B1	450					cilium assembly (GO:0042384)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)|photoreceptor connecting cilium (GO:0032391)|photoreceptor outer segment (GO:0001750)	calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)			NS(1)|biliary_tract(1)|breast(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(11)|prostate(1)|skin(1)	30				GBM - Glioblastoma multiforme(114;0.0983)		GCATCAGTGAGTTCTTGGAGT	0.403																																						ENST00000310864.6																			0				NS(1)|biliary_tract(1)|breast(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(11)|prostate(1)|skin(1)	30						c.(1348-1350)Ctc>Gtc		IQ motif containing B1							155	145	148					3																	121500652		2203	4300	6503	SO:0001583	missense	9657				cilium assembly|maintenance of organ identity|photoreceptor cell maintenance	centrosome|photoreceptor connecting cilium	calmodulin binding	g.chr3:121500652G>C	D25278	CCDS33836.1, CCDS33837.1	3q21.1	2014-01-28	2004-09-02		ENSG00000173226	ENSG00000173226			28949	protein-coding gene	gene with protein product	"nephrocystin-5"	609237	"IQ calmodulin-binding motif containing 1"			15723066	Standard	NM_001023571		Approved	KIAA0036, NPHP5, SLSN5	uc010hre.1	Q15051	OTTHUMG00000128677	ENST00000310864.6:c.1348C>G	3.37:g.121500652G>C	ENSP00000311505:p.Leu450Val					IQCB1_ENST00000349820.6_Missense_Mutation_p.L317V	p.L450V	NM_001023570.2	NP_001018864.2	Q15051	IQCB1_HUMAN		GBM - Glioblastoma multiforme(114;0.0983)	13	1562	-			450					Q3KS08|Q3KS09|Q5DKQ7|Q8NI79|Q9BS08	Missense_Mutation	SNP	ENST00000310864.6	37	c.1348C>G	CCDS33837.1	.	.	.	.	.	.	.	.	.	.	G	14.58	2.577730	0.45902	.	.	ENSG00000173226	ENST00000310864;ENST00000349820	T;T	0.79247	-1.25;-1.25	4.61	3.74	0.42951	.	0.000000	0.85682	D	0.000000	D	0.83445	0.5256	M	0.66939	2.045	0.44780	D	0.997786	P;D	0.63880	0.956;0.993	D;P	0.65010	0.931;0.826	T	0.83277	-0.0040	10	0.54805	T	0.06	-1.1316	8.9681	0.35890	0.1015:0.0:0.8985:0.0	.	450;317	Q15051;Q15051-2	IQCB1_HUMAN;.	V	450;317	ENSP00000311505:L450V;ENSP00000323756:L317V	ENSP00000311505:L450V	L	-	1	0	IQCB1	122983342	1.000000	0.71417	0.976000	0.42696	0.866000	0.49608	3.513000	0.53414	1.293000	0.44690	0.591000	0.81541	CTC		0.403	IQCB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250573.1	NM_014642		3	67	0	0	0	0.150653	0	3	67					C	121500652	G	C	121500652	3	2	207	1	0	0	0	0	1	0	0	0	7803	1029	36	5	460	5	IQCB1	3	121500652	Missense_Mutation	SNP	G	TCGA-HC-7231-01A-11D-2114-08	20116749	121500652	76521778	13	9522											
FAM194A	131831	broad.mit.edu	37	chr3	150421360	150421360	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgctctggctgggcacgaacGtagaggtcaggctagggctg	7	7	17	10	3	2	1	1	0	1	1	2	2	2	1	0	5	1	6	0	5	3	2			TCGA-HC-7231-01A-11D-2114-08	TCGA-HC-7231-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d995ea6-3c34-4bbb-a828-25f95800d404	b981708f-4f68-41ff-9f80-20bb1d64d4fc	g.chr3:150421360G>A	ENST00000295910.6	-	1	378	c.326C>T	c.(325-327)aCg>aTg	p.T109M	RP11-103G8.2_ENST00000475393.1_RNA|RP11-103G8.2_ENST00000471093.1_RNA|FAM194A_ENST00000491361.1_Intron	NM_152394.3	NP_689607.2														NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						GGGCACGAACGTAGAGGTCAG	0.637																																						ENST00000295910.6																			0				NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						c.(325-327)aCg>aTg		family with sequence similarity 194, member A							87	77	80					3																	150421360		2203	4300	6503	SO:0001583	missense	131831							g.chr3:150421360G>A																												ENST00000295910.6:c.326C>T	3.37:g.150421360G>A	ENSP00000295910:p.Thr109Met					FAM194A_ENST00000491361.1_Intron|RP11-103G8.2_ENST00000471093.1_RNA	p.T109M	NM_152394.3	NP_689607.2	Q7L0X2	F194A_HUMAN			1	378	-			109						Missense_Mutation	SNP	ENST00000295910.6	37	c.326C>T	CCDS3151.2	.	.	.	.	.	.	.	.	.	.	G	13.60	2.286760	0.40494	.	.	ENSG00000163645	ENST00000295910;ENST00000313811;ENST00000474463;ENST00000498386	T;T;T	0.49139	2.54;0.79;0.79	3.41	2.51	0.30379	.	0.374785	0.19731	N	0.107347	T	0.37865	0.1019	L	0.29908	0.895	0.24027	N	0.996125	D	0.61080	0.989	P	0.48454	0.578	T	0.12528	-1.0544	10	0.41790	T	0.15	-4.9093	7.1697	0.25712	0.1251:0.0:0.8749:0.0	.	109	Q7L0X2	F194A_HUMAN	M	109;67;83;69	ENSP00000295910:T109M;ENSP00000419304:T83M;ENSP00000417780:T69M	ENSP00000295910:T109M	T	-	2	0	FAM194A	151904050	0.004000	0.15560	0.009000	0.14445	0.007000	0.05969	0.569000	0.23638	0.983000	0.38602	0.561000	0.74099	ACG		0.637	FAM194A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257666.1			3	46	0	0	0	0.150653	0	3	46					A	150421360	G	A	150421360	3	1	207	1	0	0	0	0	1	0	0	0	5526	1145	40	1	1721	1	FAM194A	3	150421360	Missense_Mutation	SNP	G	TCGA-HC-7231-01A-11D-2114-08	28920708	150421360	47601070	14	9523											
WDR49	151790	broad.mit.edu	37	chr3	167319938	167319938	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atccttggagaagctgaaaaGttgttttctttccacaaaga	13	13	8	7	0	1	3	0	1	1	2	3	4	3	3	2	1	1	3	2	1	4	5	rs201698456		TCGA-HC-7231-01A-11D-2114-08	TCGA-HC-7231-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d995ea6-3c34-4bbb-a828-25f95800d404	b981708f-4f68-41ff-9f80-20bb1d64d4fc	g.chr3:167319938G>T	ENST00000308378.3	-	3	534	c.229C>A	c.(229-231)Ctt>Att	p.L77I	WDR49_ENST00000479765.1_Missense_Mutation_p.L418I|WDR49_ENST00000453925.2_Missense_Mutation_p.L130I	NM_178824.3	NP_849146.1	Q8IV35	WDR49_HUMAN	WD repeat domain 49	77										breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	50						AAGCTGAAAAGTTGTTTTCTT	0.408													G|||	1	0.000199681	0	0	5008	,	,		17094	0		0.001	False		,,,				2504	0					ENST00000308378.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	50						c.(229-231)Ctt>Att		WD repeat domain 49		G	ILE/LEU	0,4406		0,0,2203	90	91	90		229	5.3	1	3		90	6,8594	5.0+/-18.6	0,6,4294	yes	missense	WDR49	NM_178824.3	5	0,6,6497	TT,TG,GG		0.0698,0.0,0.0461	probably-damaging	77/698	167319938	6,13000	2203	4300	6503	SO:0001583	missense	151790							g.chr3:167319938G>T	AK097556	CCDS3201.1	3q26.1	2013-01-11			ENSG00000174776	ENSG00000174776		"WD repeat domain containing"	26587	protein-coding gene	gene with protein product						12477932	Standard	NM_178824		Approved	FLJ33620	uc003fev.1	Q8IV35	OTTHUMG00000158290	ENST00000308378.3:c.229C>A	3.37:g.167319938G>T	ENSP00000311343:p.Leu77Ile					WDR49_ENST00000453925.2_Missense_Mutation_p.L130I|WDR49_ENST00000479765.1_Missense_Mutation_p.L418I	p.L77I	NM_178824.3	NP_849146.1	Q8IV35	WDR49_HUMAN			3	534	-			77					Q8N297	Missense_Mutation	SNP	ENST00000308378.3	37	c.229C>A	CCDS3201.1	1|1	4.578754578754579E-4|4.578754578754579E-4	0|0	0.0|0.0	0|0	0.0|0.0	0|0	0.0|0.0	1|1	0.0013192612137203166|0.0013192612137203166	G|G	14.34|14.34	2.504858|2.504858	0.44558|0.44558	0.0|0.0	6.98E-4|6.98E-4	ENSG00000174776|ENSG00000174776	ENST00000308378;ENST00000479765;ENST00000453925|ENST00000472600	T;T;T|.	0.65549|.	-0.16;1.21;-0.16|.	5.34|5.34	5.34|5.34	0.76211|0.76211	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);|.	0.133347|.	0.49916|.	D|.	0.000122|.	T|T	0.58481|0.58481	0.2125|0.2125	L|L	0.33293|0.33293	1|1	0.35249|0.35249	D|D	0.778475|0.778475	D;D;D|.	0.69078|.	0.957;0.981;0.997|.	P;P;P|.	0.62649|.	0.71;0.8;0.905|.	T|T	0.63492|0.63492	-0.6625|-0.6625	10|5	0.17832|.	T|.	0.49|.	.|.	17.8251|17.8251	0.88662|0.88662	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	130;418;77|.	E7EQK3;E9PDB0;Q8IV35|.	.;.;WDR49_HUMAN|.	I|K	77;418;130|141	ENSP00000311343:L77I;ENSP00000419749:L418I;ENSP00000410863:L130I|.	ENSP00000311343:L77I|.	L|N	-|-	1|3	0|2	WDR49|WDR49	168802632|168802632	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.987000|0.987000	0.75469|0.75469	6.916000|6.916000	0.75776|0.75776	2.484000|2.484000	0.83849|0.83849	0.557000|0.557000	0.71058|0.71058	CTT|AAC		0.408	WDR49-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000350592.3	NM_178824		26	83	1	0	5.60225e-13	0.740014	7.02504e-13	26	83					T	167319938	G	T	167319938	3	4	207	1	0	0	0	0	1	0	0	0	17299	1029	36	5	1916	5	WDR49	3	167319938	Missense_Mutation	SNP	G	TCGA-HC-7231-01A-11D-2114-08	16898578	167319938	30702492	15	9524											
PIK3CA	5290	broad.mit.edu	37	chr3	178936094	178936094	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctctctctgaaatcactgagCaggagaaagattttctatgg	12	12	9	8	0	4	4	1	2	3	2	5	5	4	4	0	2	1	1	0	2	3	3	rs121913286		TCGA-HC-7231-01A-11D-2114-08	TCGA-HC-7231-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d995ea6-3c34-4bbb-a828-25f95800d404	b981708f-4f68-41ff-9f80-20bb1d64d4fc	g.chr3:178936094C>A	ENST00000263967.3	+	10	1793	c.1636C>A	c.(1636-1638)Cag>Aag	p.Q546K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	546	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.		Q -> E (in BC; unknown pathological significance). {ECO:0000269|PubMed:15520168}.|Q -> K (in OC; unknown pathological significance). {ECO:0000269|PubMed:15520168}.|Q -> P (found in an anaplastic astrocytoma sample; unknown pathological significance). {ECO:0000269|PubMed:15289301}.|Q -> R (in BC; unknown pathological significance). {ECO:0000269|PubMed:16353168}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.Q546K(89)|p.Q546E(12)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	AATCACTGAGCAGGAGAAAGA	0.358		57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	ENST00000263967.3		57		Dom	yes		3	3q26.3	5290	Mis	"phosphoinositide-3-kinase, catalytic, alpha polypeptide"			"E, O"			"colorectal, gastric, gliobastoma, breast"		101	Substitution - Missense(101)	p.Q546K(89)|p.Q546E(12)	large_intestine(55)|breast(17)|endometrium(15)|central_nervous_system(3)|lung(3)|ovary(3)|skin(2)|cervix(1)|stomach(1)|haematopoietic_and_lymphoid_tissue(1)	NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269						c.(1636-1638)Cag>Aag		phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha							61	61	61					3																	178936094		1814	4072	5886	SO:0001583	missense	5290				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	g.chr3:178936094C>A		CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"phosphoinositide-3-kinase, catalytic, alpha polypeptide"			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.1636C>A	3.37:g.178936094C>A	ENSP00000263967:p.Gln546Lys	HNSCC(19;0.045)|TSP Lung(28;0.18)					p.Q546K	NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		10	1793	+	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		546		Q -> E (in cancer).|Q -> K (in cancer).|Q -> P (in cancer).|Q -> R (in cancer).	PI3K helical.		Q14CW1|Q99762	Missense_Mutation	SNP	ENST00000263967.3	37	c.1636C>A	CCDS43171.1	.	.	.	.	.	.	.	.	.	.	C	27.5	4.838482	0.91117	.	.	ENSG00000121879	ENST00000263967	T	0.62232	0.04	5.78	5.78	0.91487	Phosphoinositide 3-kinase, accessory (PIK) domain (3);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.75191	0.3816	M	0.64404	1.975	0.80722	D	1	D	0.58970	0.984	P	0.58660	0.843	T	0.73833	-0.3858	10	0.46703	T	0.11	-14.2064	20.0024	0.97423	0.0:1.0:0.0:0.0	.	546	P42336	PK3CA_HUMAN	K	546	ENSP00000263967:Q546K	ENSP00000263967:Q546K	Q	+	1	0	PIK3CA	180418788	1.000000	0.71417	1.000000	0.80357	0.907000	0.53573	7.487000	0.81328	2.722000	0.93159	0.467000	0.42956	CAG		0.358	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2			4	62	1	0	0.0215528	0.217242	0.0233242	4	62					A	178936094	C	A	178936094	3	1	207	1	0	0	0	0	1	0	0	0	11913	711	25	5	1670	5	PIK3CA	3	178936094	Missense_Mutation	SNP	C	TCGA-HC-7231-01A-11D-2114-08	11616156	178936094	19086336	16	9525											
ZCCHC4	29063	broad.mit.edu	37	chr4	25314478	25314478	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agccgtggaggcagagggcaGcgcagggtgccggggaagct	8	3	21	9	3	0	1	0	0	0	1	0	3	0	3	2	6	4	4	2	6	1	0	rs201763036	byFrequency	TCGA-HC-7231-01A-11D-2114-08	TCGA-HC-7231-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d995ea6-3c34-4bbb-a828-25f95800d404	b981708f-4f68-41ff-9f80-20bb1d64d4fc	g.chr4:25314478G>A	ENST00000302874.4	+	1	71	c.47G>A	c.(46-48)aGc>aAc	p.S16N	ZCCHC4_ENST00000505451.1_3'UTR	NM_024936.2	NP_079212.2	Q9H5U6	ZCHC4_HUMAN	zinc finger, CCHC domain containing 4	16							methyltransferase activity (GO:0008168)|nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|pancreas(1)	9		Breast(46;0.0503)				GCAGAGGGCAGCGCAGGGTGC	0.642											OREG0016141	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000302874.4																			0				endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|pancreas(1)	9						c.(46-48)aGc>aAc		zinc finger, CCHC domain containing 4							70	89	83					4																	25314478		2050	4194	6244	SO:0001583	missense	29063						methyltransferase activity|nucleic acid binding|zinc ion binding	g.chr4:25314478G>A	AF161537	CCDS43218.1	4p15.31	2014-02-18			ENSG00000168228	ENSG00000168228		"Zinc fingers, CCHC domain containing"	22917	protein-coding gene	gene with protein product	"zinc finger, GRF-type containing 4"	611792				11042152	Standard	NM_024936		Approved	HSPC052, FLJ23024, ZGRF4	uc003grl.4	Q9H5U6	OTTHUMG00000160563	ENST00000302874.4:c.47G>A	4.37:g.25314478G>A	ENSP00000303468:p.Ser16Asn		OREG0016141	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	778	ZCCHC4_ENST00000505451.1_3'UTR	p.S16N	NM_024936.2	NP_079212.2	Q9H5U6	ZCHC4_HUMAN			1	71	+		Breast(46;0.0503)	16					B2RXF6|B4DRD8|B7ZW20|Q5IW78|Q96AN7	Missense_Mutation	SNP	ENST00000302874.4	37	c.47G>A	CCDS43218.1	.	.	.	.	.	.	.	.	.	.	G	12.33	1.905596	0.33628	.	.	ENSG00000168228	ENST00000302874	T	0.30981	1.51	5.18	-5.71	0.02413	.	1.862370	0.01786	N	0.032033	T	0.13114	0.0318	N	0.12182	0.205	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.12116	-1.0560	10	0.17369	T	0.5	-5.9509	1.3284	0.02130	0.2451:0.1002:0.2206:0.4341	.	16	Q9H5U6	ZCHC4_HUMAN	N	16	ENSP00000303468:S16N	ENSP00000303468:S16N	S	+	2	0	ZCCHC4	24923576	0.000000	0.05858	0.000000	0.03702	0.016000	0.09150	-1.725000	0.01863	-1.763000	0.01307	0.655000	0.94253	AGC		0.642	ZCCHC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361151.1			4	128	0	0	0	0.150653	0	4	128					A	25314478	G	A	25314478	3	1	207	1	0	0	0	0	1	0	0	0	17587	971	34	3	49	3	ZCCHC4	4	25314478	Missense_Mutation	SNP	G	TCGA-HC-7231-01A-11D-2114-08		25314478	165839798	17	9526											
TBC1D19	55296	broad.mit.edu	37	chr4	26750104	26750104	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tacagatcagctcttgctttTatgggatagaatcctaggat	11	14	9	7	0	2	2	1	0	1	2	3	4	3	4	1	2	3	2	1	2	5	6			TCGA-HC-7231-01A-11D-2114-08	TCGA-HC-7231-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d995ea6-3c34-4bbb-a828-25f95800d404	b981708f-4f68-41ff-9f80-20bb1d64d4fc	g.chr4:26750104T>C	ENST00000264866.4	+	19	1669	c.1391T>C	c.(1390-1392)tTa>tCa	p.L464S	TBC1D19_ENST00000511789.1_Missense_Mutation_p.L399S	NM_018317.2	NP_060787.2	Q8N5T2	TBC19_HUMAN	TBC1 domain family, member 19	464	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.						Rab GTPase activator activity (GO:0005097)			breast(4)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	17		Breast(46;0.0503)				CTCTTGCTTTTATGGGATAGA	0.358																																						ENST00000264866.4																			0				breast(4)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	17						c.(1390-1392)tTa>tCa		TBC1 domain family, member 19							141	142	142					4																	26750104		2203	4300	6503	SO:0001583	missense	55296					intracellular	Rab GTPase activator activity	g.chr4:26750104T>C	AK001944	CCDS3439.1, CCDS75115.1	4p15.2	2008-02-05			ENSG00000109680	ENSG00000109680			25624	protein-coding gene	gene with protein product							Standard	XM_006713967		Approved	FLJ11082	uc003gsf.4	Q8N5T2	OTTHUMG00000097797	ENST00000264866.4:c.1391T>C	4.37:g.26750104T>C	ENSP00000264866:p.Leu464Ser					TBC1D19_ENST00000511789.1_Missense_Mutation_p.L399S	p.L464S	NM_018317.2	NP_060787.2	Q8N5T2	TBC19_HUMAN			19	1669	+		Breast(46;0.0503)	464			Rab-GAP TBC.		B9A6M0|Q9NUX1	Missense_Mutation	SNP	ENST00000264866.4	37	c.1391T>C	CCDS3439.1	.	.	.	.	.	.	.	.	.	.	T	24.4	4.521879	0.85600	.	.	ENSG00000109680	ENST00000264866;ENST00000511789	T;T	0.35048	1.33;1.33	5.83	5.83	0.93111	Rab-GAP/TBC domain (4);	0.000000	0.85682	D	0.000000	T	0.64627	0.2615	M	0.83223	2.63	0.80722	D	1	D;D;D	0.89917	1.0;0.997;0.997	D;D;D	0.91635	0.999;0.995;0.995	T	0.70121	-0.4959	10	0.87932	D	0	-8.9731	16.1894	0.81975	0.0:0.0:0.0:1.0	.	399;464;464	B9A6M0;A8K0R6;Q8N5T2	.;.;TBC19_HUMAN	S	464;399	ENSP00000264866:L464S;ENSP00000425569:L399S	ENSP00000264866:L464S	L	+	2	0	TBC1D19	26359202	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	7.499000	0.81566	2.222000	0.72286	0.477000	0.44152	TTA		0.358	TBC1D19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215052.2	NM_018317		3	122	0	0	0	0.184627	0	3	122					C	26750104	T	C	26750104	3	2	207	1	0	0	0	0	1	0	0	0	15604	1764	61	4	1465	4	TBC1D19	4	26750104	Missense_Mutation	SNP	T	TCGA-HC-7231-01A-11D-2114-08	1435626	26750104	164404172	18	9527											
SHROOM3	57619	broad.mit.edu	37	chr4	77476913	77476913	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaccctcaggctggtagtgcGcaggtaggtggcagaccccc	7	6	15	13	1	1	1	1	0	0	1	1	2	1	1	3	5	1	5	3	5	2	2	rs149028713		TCGA-HC-7231-01A-11D-2114-08	TCGA-HC-7231-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d995ea6-3c34-4bbb-a828-25f95800d404	b981708f-4f68-41ff-9f80-20bb1d64d4fc	g.chr4:77476913G>A	ENST00000296043.6	+	2	1273	c.320G>A	c.(319-321)cGc>cAc	p.R107H		NM_020859.3	NP_065910.3	Q8TF72	SHRM3_HUMAN	shroom family member 3	107	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				actin cytoskeleton organization (GO:0030036)|apical protein localization (GO:0045176)|cell morphogenesis (GO:0000902)|cellular pigment accumulation (GO:0043482)|columnar/cuboidal epithelial cell development (GO:0002066)|neural tube closure (GO:0001843)|pattern specification process (GO:0007389)|regulation of cell shape (GO:0008360)	adherens junction (GO:0005912)|apical junction complex (GO:0043296)|apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|microtubule (GO:0005874)				NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60			Lung(101;0.0903)			CTGGTAGTGCGCAGGTAGGTG	0.587													G|||	1	0.000199681	0	0	5008	,	,		16585	0.001		0	False		,,,				2504	0					ENST00000296043.6																			0				NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60						c.(319-321)cGc>cAc		shroom family member 3		G	HIS/ARG	0,4406		0,0,2203	97	83	87		320	4.4	1	4	dbSNP_134	87	2,8598	2.2+/-6.3	0,2,4298	no	missense	SHROOM3	NM_020859.3	29	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	benign	107/1997	77476913	2,13004	2203	4300	6503	SO:0001583	missense	57619				apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape	adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule	actin binding	g.chr4:77476913G>A	AB055660	CCDS3579.2	4q21.1	2009-11-25			ENSG00000138771	ENSG00000138771			30422	protein-coding gene	gene with protein product		604570				10589677, 16615870	Standard	NM_020859		Approved	ShrmL, SHRM, KIAA1481, APXL3	uc011cbx.2	Q8TF72	OTTHUMG00000157075	ENST00000296043.6:c.320G>A	4.37:g.77476913G>A	ENSP00000296043:p.Arg107His						p.R107H	NM_020859.3	NP_065910.3	Q8TF72	SHRM3_HUMAN	Lung(101;0.0903)		2	1273	+			107			PDZ.		Q5QTQ3|Q6ZRW3|Q96IR9|Q9P247	Missense_Mutation	SNP	ENST00000296043.6	37	c.320G>A	CCDS3579.2	.	.	.	.	.	.	.	.	.	.	G	13.96	2.393602	0.42410	0.0	2.33E-4	ENSG00000138771	ENST00000296043	T	0.24538	1.85	4.44	4.44	0.53790	PDZ/DHR/GLGF (3);	0.662303	0.12377	N	0.474244	T	0.59224	0.2178	M	0.88704	2.975	0.29204	N	0.875015	D	0.89917	1.0	D	0.79784	0.993	T	0.58498	-0.7626	10	0.72032	D	0.01	-5.2315	16.1327	0.81454	0.0:0.0:1.0:0.0	.	107	Q8TF72	SHRM3_HUMAN	H	107	ENSP00000296043:R107H	ENSP00000296043:R107H	R	+	2	0	SHROOM3	77695937	1.000000	0.71417	1.000000	0.80357	0.758000	0.43043	4.974000	0.63771	2.398000	0.81561	0.467000	0.42956	CGC		0.587	SHROOM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252408.2	NM_020859		4	40	0	0	0	0.150653	0	4	40					A	77476913	G	A	77476913	3	1	207	1	0	0	0	0	1	0	0	0	14295	1087	38	1	326	1	SHROOM3	4	77476913	Missense_Mutation	SNP	G	TCGA-HC-7231-01A-11D-2114-08	50726809	77476913	113677363	19	9528											
PCDHA11	56138	broad.mit.edu	37	chr5	140250251	140250251	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaggtgtacgcgctgcagccGttggaccacgaggagctgga	9	6	16	10	4	0	0	0	0	0	0	0	4	0	3	2	4	4	5	2	4	2	2			TCGA-HC-7231-01A-11D-2114-08	TCGA-HC-7231-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d995ea6-3c34-4bbb-a828-25f95800d404	b981708f-4f68-41ff-9f80-20bb1d64d4fc	g.chr5:140250251G>A	ENST00000398640.2	+	1	1563	c.1563G>A	c.(1561-1563)ccG>ccA	p.P521P	PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA10_ENST00000506939.2_Intron	NM_018902.3	NP_061725.1	Q9Y5I1	PCDAB_HUMAN	protocadherin alpha 11	521	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			breast(1)|lung(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGCTGCAGCCGTTGGACCACG	0.682																																						ENST00000398640.2																			0				breast(1)|lung(1)	2						c.(1561-1563)ccG>ccA									61	68	65					5																	140250251		2196	4281	6477	SO:0001819	synonymous_variant	0							g.chr5:140250251G>A	AF152476	CCDS47284.1, CCDS75326.1	5q31	2010-11-26			ENSG00000249158	ENSG00000249158		"Cadherins / Protocadherins : Clustered"	8665	other	complex locus constituent	"KIAA0345-like 3", "ortholog of mouse CNR7"	606317		CNRS7		10380929, 10662547	Standard	NM_018902		Approved	CNR7, CRNR7, CNRN7, PCDH-ALPHA11		Q9Y5I1	OTTHUMG00000163369	ENST00000398640.2:c.1563G>A	5.37:g.140250251G>A						PCDHA5_ENST00000529859.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000527624.1_Intron	p.P521P	NM_018902.3	NP_061725.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1563	+								B2RN58|O75279	Silent	SNP	ENST00000398640.2	37	c.1563G>A	CCDS47284.1																																																																																				0.682	PCDHA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372885.2	NM_018902		18	169	0	0	0	0.608945	0	18	169					A	140250251	G	A	140250251	2	1	207	1	0	0	0	0	0	0	0	1	11521	1132	40	1		1	PCDHA11	5	140250251	Silent	SNP	G	TCGA-HC-7231-01A-11D-2114-08		140250251	40665009	20	9529											
HK3	3101	broad.mit.edu	37	chr5	176316502	176316502	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgctgacgcagacgcggcccCggtcttcgtccagcactgcc	5	6	12	18	6	1	2	0	1	1	1	3	2	2	2	4	2	2	3	4	2	0	1	rs372314303		TCGA-HC-7231-01A-11D-2114-08	TCGA-HC-7231-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d995ea6-3c34-4bbb-a828-25f95800d404	b981708f-4f68-41ff-9f80-20bb1d64d4fc	g.chr5:176316502C>T	ENST00000292432.5	-	8	885	c.794G>A	c.(793-795)cGg>cAg	p.R265Q		NM_002115.2	NP_002106.2	P52790	HXK3_HUMAN	hexokinase 3 (white cell)	265	Hexokinase type-2 1.|Regulatory.				carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|cellular glucose homeostasis (GO:0001678)|glucose 6-phosphate metabolic process (GO:0051156)|glucose transport (GO:0015758)|glycolytic process (GO:0006096)|hexose metabolic process (GO:0019318)|hexose transport (GO:0008645)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|protein complex (GO:0043234)	ATP binding (GO:0005524)|fructokinase activity (GO:0008865)|glucokinase activity (GO:0004340)|hexokinase activity (GO:0004396)|hormone binding (GO:0042562)|mannokinase activity (GO:0019158)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47	all_cancers(89;0.000104)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GACGCGGCCCCGGTCTTCGTC	0.642																																						ENST00000292432.5																			0				breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						c.(793-795)cGg>cAg		hexokinase 3 (white cell)		C	GLN/ARG	0,4406		0,0,2203	96	80	85		794	2.1	0.8	5		85	1,8599	1.2+/-3.3	0,1,4299	no	missense	HK3	NM_002115.2	43	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	265/924	176316502	1,13005	2203	4300	6503	SO:0001583	missense	3101				glucose transport|glycolysis|transmembrane transport	cytosol|membrane	ATP binding|glucokinase activity	g.chr5:176316502C>T		CCDS4407.1	5q35.2	2008-02-05			ENSG00000160883	ENSG00000160883	2.7.1.1		4925	protein-coding gene	gene with protein product		142570				8812439	Standard	NM_002115		Approved		uc003mfa.3	P52790	OTTHUMG00000130855	ENST00000292432.5:c.794G>A	5.37:g.176316502C>T	ENSP00000292432:p.Arg265Gln						p.R265Q	NM_002115.2	NP_002106.2	P52790	HXK3_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		8	885	-	all_cancers(89;0.000104)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	265			Regulatory.		Q8N1E7	Missense_Mutation	SNP	ENST00000292432.5	37	c.794G>A	CCDS4407.1	.	.	.	.	.	.	.	.	.	.	C	12.34	1.908822	0.33721	0.0	1.16E-4	ENSG00000160883	ENST00000292432	D	0.96200	-3.94	5.34	2.11	0.27256	Hexokinase, C-terminal (1);	0.280488	0.25909	N	0.027516	D	0.87877	0.6288	N	0.11064	0.09	0.24844	N	0.992441	B	0.22604	0.072	B	0.27076	0.076	T	0.80446	-0.1379	10	0.54805	T	0.06	-26.7919	6.7623	0.23548	0.1324:0.6416:0.0:0.226	.	265	P52790	HXK3_HUMAN	Q	265	ENSP00000292432:R265Q	ENSP00000292432:R265Q	R	-	2	0	HK3	176249108	0.032000	0.19561	0.814000	0.32528	0.043000	0.13939	0.607000	0.24209	0.630000	0.30394	0.491000	0.48974	CGG		0.642	HK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253428.1			4	50	0	0	0	0.150653	0	4	50					T	176316502	C	T	176316502	3	4	207	1	0	0	0	0	1	0	0	0	7192	652	23	2	2025	2	HK3	5	176316502	Missense_Mutation	SNP	C	TCGA-HC-7231-01A-11D-2114-08	36066251	176316502	4598758	21	9530											
GRM4	2914	broad.mit.edu	37	chr6	34003799	34003799	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtgatggccagctgtgaggcGgggctgatgaagcgtggggc	6	7	21	7	2	0	4	0	4	0	0	0	4	0	4	1	6	2	2	1	6	1	0			TCGA-HC-7231-01A-11D-2114-08	TCGA-HC-7231-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d995ea6-3c34-4bbb-a828-25f95800d404	b981708f-4f68-41ff-9f80-20bb1d64d4fc	g.chr6:34003799G>A	ENST00000538487.2	-	9	2531	c.2088C>T	c.(2086-2088)ccC>ccT	p.P696P	GRM4_ENST00000545715.1_5'UTR|GRM4_ENST00000609222.1_Silent_p.P563P|GRM4_ENST00000374181.4_Silent_p.P696P|GRM4_ENST00000455714.2_Silent_p.P556P|GRM4_ENST00000535756.1_Silent_p.P563P|GRM4_ENST00000544773.2_Silent_p.P527P|GRM4_ENST00000374177.3_Silent_p.P580P	NM_000841.2|NM_001256811.1	NP_000832.1|NP_001243740.1	Q14833	GRM4_HUMAN	glutamate receptor, metabotropic 4	696					activation of MAPK activity (GO:0000187)|adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|learning (GO:0007612)|neurotransmitter secretion (GO:0007269)|positive regulation of MAPK cascade (GO:0043410)|regulation of neuron apoptotic process (GO:0043523)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)	cytoplasmic vesicle (GO:0031410)|dendritic shaft (GO:0043198)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|presynaptic active zone membrane (GO:0048787)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)	p.A697fs*126(2)|p.A581fs*126(1)		NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						GCTGTGAGGCGGGGCTGATGA	0.617																																						ENST00000374181.3																			3	Deletion - Frameshift(3)	p.A697fs*126(2)|p.A581fs*126(1)	large_intestine(3)	NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						c.(2086-2088)ccC>ccT		glutamate receptor, metabotropic 4	L-Glutamic Acid(DB00142)						110	121	117					6																	34003799		2203	4300	6503	SO:0001819	synonymous_variant	2914				activation of MAPK activity|inhibition of adenylate cyclase activity by metabotropic glutamate receptor signaling pathway|neuroprotection|neurotransmitter secretion|positive regulation of MAPKKK cascade	cytoplasmic vesicle|integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	g.chr6:34003799G>A	U92457	CCDS4787.1, CCDS59010.1, CCDS59011.1, CCDS59012.1, CCDS75432.1	6p21.3	2012-08-29			ENSG00000124493	ENSG00000124493		"GPCR / Class C : Glutamate receptors, metabotropic", "Glutamate receptors"	4596	protein-coding gene	gene with protein product		604100				8738157, 9473604	Standard	NM_000841		Approved	GPRC1D, mGlu4, MGLUR4	uc010jvh.4	Q14833	OTTHUMG00000014538	ENST00000538487.2:c.2088C>T	6.37:g.34003799G>A						GRM4_ENST00000544773.1_Silent_p.P527P|GRM4_ENST00000374177.3_Silent_p.P580P|GRM4_ENST00000538487.1_Silent_p.P696P|GRM4_ENST00000535756.1_Silent_p.P563P|GRM4_ENST00000455714.2_Silent_p.P556P|GRM4_ENST00000545715.1_Silent_p.P388P	p.P696P	NM_001256810.1	NP_001243739.1	Q14833	GRM4_HUMAN			8	2257	-			696					B3KVL9|B7Z1T9|B7Z1U6|F5GXM5|Q5SZ84|Q6ZMQ2	Silent	SNP	ENST00000538487.2	37	c.2088C>T	CCDS4787.1																																																																																				0.617	GRM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040213.2			6	133	0	0	0	0.217242	0	6	133					A	34003799	G	A	34003799	2	1	207	1	0	0	0	0	0	0	0	1	6799	1103	39	2		2	GRM4	6	34003799	Silent	SNP	G	TCGA-HC-7231-01A-11D-2114-08		34003799	137111268	22	9531											
SIM1	6492	broad.mit.edu	37	chr6	100841376	100841376	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ctcttaccatggatcctgtgGactgaagcgatgtgaggcat	9	11	12	9	1	1	2	0	2	1	0	2	5	2	4	2	3	2	1	2	3	2	1			TCGA-HC-7231-01A-11D-2114-08	TCGA-HC-7231-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d995ea6-3c34-4bbb-a828-25f95800d404	b981708f-4f68-41ff-9f80-20bb1d64d4fc	g.chr6:100841376G>T	ENST00000369208.3	-	11	2339	c.1557C>A	c.(1555-1557)gtC>gtA	p.V519V	SIM1_ENST00000262901.4_Silent_p.V519V			P81133	SIM1_HUMAN	single-minded family bHLH transcription factor 1	519	Single-minded C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00632}.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)|ureteric bud development (GO:0001657)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	79		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0774)		GGATCCTGTGGACTGAAGCGA	0.552																																						ENST00000369208.3																			0				breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	79						c.(1555-1557)gtC>gtA		single-minded family bHLH transcription factor 1							110	104	106					6																	100841376		2203	4300	6503	SO:0001819	synonymous_variant	6492				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr6:100841376G>T	U70212	CCDS5045.1	6q16.3	2013-10-17	2013-10-17		ENSG00000112246	ENSG00000112246		"Basic helix-loop-helix proteins"	10882	protein-coding gene	gene with protein product		603128	"single-minded (Drosophila) homolog 1", "single-minded homolog 1 (Drosophila)"			9199934, 11448938	Standard	NM_005068		Approved	bHLHe14	uc003pqj.4	P81133	OTTHUMG00000015275	ENST00000369208.3:c.1557C>A	6.37:g.100841376G>T						SIM1_ENST00000262901.4_Silent_p.V519V	p.V519V			P81133	SIM1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0774)	11	2339	-		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)	519			Single-minded C-terminal.		Q5TDP7	Silent	SNP	ENST00000369208.3	37	c.1557C>A	CCDS5045.1																																																																																				0.552	SIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041628.3	NM_005068		10	94	1	0	4.36969e-10	0.435327	5.31085e-10	10	94					T	100841376	G	T	100841376	2	4	207	1	0	0	0	0	0	0	0	1	14323	1161	41	5		5	SIM1	6	100841376	Silent	SNP	G	TCGA-HC-7231-01A-11D-2114-08	66837577	100841376	70273691	23	9532											
NPVF	64111	broad.mit.edu	37	chr7	25264785	25264785	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atcatctattttcttgaataGcagtctcctaaaatgtaagc	13	15	5	8	0	4	1	1	1	3	0	5	1	4	1	1	0	2	2	1	0	6	7	rs572195157		TCGA-HC-7231-01A-11D-2114-08	TCGA-HC-7231-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d995ea6-3c34-4bbb-a828-25f95800d404	b981708f-4f68-41ff-9f80-20bb1d64d4fc	g.chr7:25264785G>A	ENST00000222674.2	-	3	593	c.547C>T	c.(547-549)Cta>Tta	p.L183L		NM_022150.3	NP_071433	Q9HCQ7	NPVF_HUMAN	neuropeptide VF precursor	183					negative regulation of gonadotropin secretion (GO:0032277)|neuropeptide signaling pathway (GO:0007218)	extracellular region (GO:0005576)				cervix(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|urinary_tract(1)	15						TTCTTGAATAGCAGTCTCCTA	0.378																																						ENST00000222674.2																			0				cervix(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|urinary_tract(1)	15						c.(547-549)Cta>Tta		neuropeptide VF precursor							184	175	178					7																	25264785		2203	4300	6503	SO:0001819	synonymous_variant	64111				neuropeptide signaling pathway	extracellular region|membrane	G-protein coupled receptor activity	g.chr7:25264785G>A	AB040290	CCDS5395.1	7p21-p15	2013-02-28	2006-10-06	2006-10-06	ENSG00000105954	ENSG00000105954		"Endogenous ligands"	13782	protein-coding gene	gene with protein product	"RFamide-related peptide precursor", "FMRFamide-related peptide precursor"		"chromosome 7 open reading frame 9"	C7orf9		11951088, 11173868	Standard	NM_022150		Approved	RFRP	uc003sxo.3	Q9HCQ7	OTTHUMG00000128509	ENST00000222674.2:c.547C>T	7.37:g.25264785G>A							p.L183L	NM_022150.3	NP_071433.3	Q9HCQ7	RFRP_HUMAN			3	593	-			183					A4D164|Q7LE27|Q96PI9	Silent	SNP	ENST00000222674.2	37	c.547C>T	CCDS5395.1																																																																																				0.378	NPVF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250315.1	NM_022150		14	46	0	0	0	0.520397	0	14	46					A	25264785	G	A	25264785	2	1	207	1	0	0	0	0	0	0	0	1	10605	962	34	3		3	NPVF	7	25264785	Silent	SNP	G	TCGA-HC-7231-01A-11D-2114-08		25264785	133873878	24	9533											
CAMK2B	816	broad.mit.edu	37	chr7	44259781	44259781	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgcggggccggccctgcccGtcaatgtactgcgtgagccg	4	7	16	14	5	1	1	1	1	0	0	1	1	1	1	4	3	5	1	4	3	2	1			TCGA-HC-7231-01A-11D-2114-08	TCGA-HC-7231-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d995ea6-3c34-4bbb-a828-25f95800d404	b981708f-4f68-41ff-9f80-20bb1d64d4fc	g.chr7:44259781G>A	ENST00000395749.2	-	23	1957	c.1881C>T	c.(1879-1881)gaC>gaT	p.D627D	CAMK2B_ENST00000347193.4_Silent_p.D453D|CAMK2B_ENST00000258682.6_Silent_p.D478D|CAMK2B_ENST00000440254.2_Silent_p.D503D|CAMK2B_ENST00000350811.3_Silent_p.D503D|CAMK2B_ENST00000489429.1_5'UTR|CAMK2B_ENST00000346990.4_Silent_p.D410D|CAMK2B_ENST00000502837.2_3'UTR|CAMK2B_ENST00000353625.4_Silent_p.D440D|CAMK2B_ENST00000395747.2_Silent_p.D479D|CAMK2B_ENST00000358707.3_Silent_p.D464D|CAMK2B_ENST00000457475.1_Silent_p.D479D	NM_001220.4	NP_001211.3	Q13554	KCC2B_HUMAN	calcium/calmodulin-dependent protein kinase II beta	627					activation of meiosis involved in egg activation (GO:0060466)|calcium ion transport (GO:0006816)|cytokine-mediated signaling pathway (GO:0019221)|G1/S transition of mitotic cell cycle (GO:0000082)|inhibitory G-protein coupled receptor phosphorylation (GO:0002030)|interferon-gamma-mediated signaling pathway (GO:0060333)|neuromuscular process controlling balance (GO:0050885)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of neuron projection development (GO:0010976)|positive regulation of synapse maturation (GO:0090129)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of calcium ion transport (GO:0051924)|regulation of dendritic spine development (GO:0060998)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of skeletal muscle adaptation (GO:0014733)|regulation of synapse structural plasticity (GO:0051823)|regulation of synaptic transmission, cholinergic (GO:0032222)|response to cadmium ion (GO:0046686)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|spindle midzone (GO:0051233)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|protein homodimerization activity (GO:0042803)			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)	18						GGCCCTGCCCGTCAATGTACT	0.657																																						ENST00000395749.2																			0				cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)	18						c.(1879-1881)gaC>gaT		calcium/calmodulin-dependent protein kinase II beta							63	43	50					7																	44259781		2202	4300	6502	SO:0001819	synonymous_variant	816				interferon-gamma-mediated signaling pathway|synaptic transmission	cytosol|endocytic vesicle membrane|nucleoplasm|plasma membrane	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity	g.chr7:44259781G>A	U50358	CCDS5483.1, CCDS5484.1, CCDS5485.1, CCDS5486.1, CCDS5487.1, CCDS5488.1, CCDS5489.1, CCDS43573.1	7p14.3-p14.1	2008-10-30	2008-10-30		ENSG00000058404	ENSG00000058404			1461	protein-coding gene	gene with protein product	"CaM-kinase II beta chain", "calcium/calmodulin-dependent protein kinase type II beta chain", "CaM kinase II beta subunit", "proline rich calmodulin-dependent protein kinase"	607707	"calcium/calmodulin-dependent protein kinase (CaM kinase) II beta"	CAMKB			Standard	NM_172079		Approved	CAM2, CAMK2	uc003tkq.2	Q13554	OTTHUMG00000023491	ENST00000395749.2:c.1881C>T	7.37:g.44259781G>A						CAMK2B_ENST00000346990.4_Silent_p.D410D|CAMK2B_ENST00000258682.6_Silent_p.D478D|CAMK2B_ENST00000353625.4_Silent_p.D440D|CAMK2B_ENST00000358707.3_Silent_p.D464D|CAMK2B_ENST00000489429.1_5'UTR|CAMK2B_ENST00000395747.2_Silent_p.D479D|CAMK2B_ENST00000347193.4_Silent_p.D453D|CAMK2B_ENST00000350811.3_Silent_p.D503D|CAMK2B_ENST00000457475.1_Silent_p.D479D|CAMK2B_ENST00000440254.2_Silent_p.D503D|CAMK2B_ENST00000502837.2_3'UTR	p.D627D	NM_001220.4	NP_001211.3	Q13554	KCC2B_HUMAN			23	1957	-			627					A4D2K0|A4D2K1|A4D2K2|A4D2K3|A4D2K4|A4D2K5|A4D2K6|O95437|O95438|O95599|Q9UGH7|Q9UGH8|Q9UGH9|Q9UNX0|Q9UNX7|Q9UP00|Q9Y5N4|Q9Y6F4	Silent	SNP	ENST00000395749.2	37	c.1881C>T	CCDS5483.1																																																																																				0.657	CAMK2B-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251138.2	NM_172084		5	35	0	0	0	0.217242	0	5	35					A	44259781	G	A	44259781	2	1	207	1	0	0	0	0	0	0	0	1	2600	1136	40	1		1	CAMK2B	7	44259781	Silent	SNP	G	TCGA-HC-7231-01A-11D-2114-08	18994996	44259781	114878882	25	9534											
TYW1B	441250	broad.mit.edu	37	chr7	72081822	72081822	+	RNA	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttctctgcagtaggtaacGccctgtggaaacagtataac	11	11	9	10	1	1	0	0	0	1	0	2	1	1	1	1	2	4	4	1	2	5	5	rs368018822		TCGA-HC-7231-01A-11D-2114-08	TCGA-HC-7231-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d995ea6-3c34-4bbb-a828-25f95800d404	b981708f-4f68-41ff-9f80-20bb1d64d4fc	g.chr7:72081822G>A	ENST00000435769.2	-	0	1743				TYW1B_ENST00000343721.5_RNA|TYW1B_ENST00000438125.1_RNA			Q6NUM6	TYW1B_HUMAN	tRNA-yW synthesizing protein 1 homolog B (S. cerevisiae)						tRNA processing (GO:0008033)		4 iron, 4 sulfur cluster binding (GO:0051539)|FMN binding (GO:0010181)|iron ion binding (GO:0005506)|lyase activity (GO:0016829)|oxidoreductase activity (GO:0016491)										AGTAGGTAACGCCCTGTGGAA	0.502																																						ENST00000438125.1																			0													tRNA-yW synthesizing protein 1 homolog B (S. cerevisiae)		G	,	0,1384		0,0,692	158	121	132		1621,1135	2.2	1	7		132	1,3181		0,1,1590	no	coding-synonymous,coding-notMod3	TYW1B	NM_001145440.1,NM_001145441.1	,	0,1,2282	AA,AG,GG		0.0314,0.0,0.0219	,	540/669,	72081822	1,4565	692	1591	2283			441250				tRNA processing		4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity	g.chr7:72081822G>A	BC068520	CCDS69309.1	7q11.23	2011-08-11	2009-07-28		ENSG00000254184	ENSG00000277149			33908	protein-coding gene	gene with protein product	"radical S-adenosyl methionine and flavodoxin domains 1", "non-protein coding RNA 69", "long intergenic non-protein coding RNA 69"		"tRNA-yW synthesizing protein 1 homolog B (non-protein coding)"				Standard	NM_001145440		Approved	RSAFD2, MGC87315, NCRNA00069, LINC00069	uc011kej.2	Q6NUM6	OTTHUMG00000157067		7.37:g.72081822G>A										Q6NUM6	TYW1B_HUMAN			0	1233	-								A6NG09|B4DFY2|Q3KQX2	RNA	SNP	ENST00000435769.2	37																																																																																						0.502	TYW1B-001	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000347346.2	NM_001145440		25	55	0	0	0	0.681144	0	25	55					A	72081822	G	A	72081822	1	1	207	0	1	0	0	0	0	0	0	0	16816	1074	38	1		1	TYW1B	7	72081822	RNA	SNP	G	TCGA-HC-7231-01A-11D-2114-08	27822041	72081822	87056841	26	9535											
ANK1	286	broad.mit.edu	37	chr8	41552776	41552776	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cttccacacggagccgttttCgctcctcagaaccacgagct	8	9	8	16	4	1	1	1	0	0	1	4	3	3	2	4	1	3	3	4	1	1	3			TCGA-HC-7231-01A-11D-2114-08	TCGA-HC-7231-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d995ea6-3c34-4bbb-a828-25f95800d404	b981708f-4f68-41ff-9f80-20bb1d64d4fc	g.chr8:41552776C>T	ENST00000347528.4	-	27	3117	c.3034G>A	c.(3034-3036)Gaa>Aaa	p.E1012K	ANK1_ENST00000352337.4_Missense_Mutation_p.E1012K|ANK1_ENST00000396942.1_Missense_Mutation_p.E1012K|ANK1_ENST00000289734.7_Missense_Mutation_p.E1012K|ANK1_ENST00000396945.1_Missense_Mutation_p.E1012K|ANK1_ENST00000265709.8_Missense_Mutation_p.E1053K|ANK1_ENST00000379758.2_Missense_Mutation_p.E1012K	NM_020475.2|NM_020476.2|NM_020477.2	NP_065208.2|NP_065209.2|NP_065210.2	P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	1012	ZU5 1. {ECO:0000255|PROSITE- ProRule:PRU00485}.				axon guidance (GO:0007411)|cytoskeleton organization (GO:0007010)|ER to Golgi vesicle-mediated transport (GO:0006888)|erythrocyte development (GO:0048821)|exocytosis (GO:0006887)|maintenance of epithelial cell apical/basal polarity (GO:0045199)|monovalent inorganic cation transport (GO:0015672)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of organelle organization (GO:0010638)|protein targeting to plasma membrane (GO:0072661)|signal transduction (GO:0007165)	axolemma (GO:0030673)|basolateral plasma membrane (GO:0016323)|cortical cytoskeleton (GO:0030863)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|M band (GO:0031430)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|cytoskeletal adaptor activity (GO:0008093)|enzyme binding (GO:0019899)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			GAGCCGTTTTCGCTCCTCAGA	0.617																																						ENST00000396942.1																			0				breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122						c.(3034-3036)Gaa>Aaa		ankyrin 1, erythrocytic							109	101	103					8																	41552776		2203	4300	6503	SO:0001583	missense	286				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton	g.chr8:41552776C>T	M28880	CCDS6119.1, CCDS6121.1, CCDS6122.1, CCDS47849.1, CCDS55227.1	8p11.21	2013-01-10			ENSG00000029534	ENSG00000029534		"Ankyrin repeat domain containing"	492	protein-coding gene	gene with protein product		612641		ANK		1689849	Standard	NM_001142445		Approved	SPH1	uc003xom.3	P16157	OTTHUMG00000150281	ENST00000347528.4:c.3034G>A	8.37:g.41552776C>T	ENSP00000339620:p.Glu1012Lys					ANK1_ENST00000379758.2_Missense_Mutation_p.E1012K|ANK1_ENST00000352337.4_Missense_Mutation_p.E1012K|ANK1_ENST00000347528.4_Missense_Mutation_p.E1012K|ANK1_ENST00000289734.7_Missense_Mutation_p.E1012K|ANK1_ENST00000265709.8_Missense_Mutation_p.E1053K|ANK1_ENST00000396945.1_Missense_Mutation_p.E1012K	p.E1012K			P16157	ANK1_HUMAN	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)		27	3117	-	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	1012			ZU5.		A0PJN8|A6NJ23|E5RFL7|O43400|Q13768|Q53ER1|Q59FP2|Q8N604|Q99407	Missense_Mutation	SNP	ENST00000347528.4	37	c.3034G>A	CCDS6119.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	31|31	5.096248|5.096248	0.94197|0.94197	.|.	.|.	ENSG00000029534|ENSG00000029534	ENST00000347528;ENST00000289734;ENST00000379758;ENST00000396945;ENST00000396942;ENST00000352337;ENST00000265709;ENST00000358820|ENST00000520299	T;T;T;T;T;T;T|.	0.41400|.	1.0;1.0;1.0;1.0;1.0;1.0;1.0|.	5.09|5.09	5.09|5.09	0.68999|0.68999	ZU5 (3);|.	0.052887|.	0.64402|.	D|.	0.000001|.	T|T	0.73265|0.73265	0.3565|0.3565	M|M	0.61703|0.61703	1.905|1.905	0.80722|0.80722	D|D	1|1	P;D;P;D;P;D|.	0.71674|.	0.898;0.961;0.893;0.998;0.832;0.998|.	P;B;P;P;P;D|.	0.70016|.	0.465;0.437;0.496;0.75;0.465;0.967|.	T|T	0.72137|0.72137	-0.4381|-0.4381	10|5	0.87932|.	D|.	0|.	.|.	18.4955|18.4955	0.90864|0.90864	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	1053;1012;1012;1012;1012;328|.	P16157-21;P16157-4;P16157;P16157-5;P16157-3;B3KX39|.	.;.;ANK1_HUMAN;.;.;.|.	K|Q	1012;1012;1012;1012;1012;1012;1053;1012|333	ENSP00000339620:E1012K;ENSP00000289734:E1012K;ENSP00000369082:E1012K;ENSP00000380149:E1012K;ENSP00000380147:E1012K;ENSP00000309131:E1012K;ENSP00000265709:E1053K|.	ENSP00000265709:E1053K|.	E|R	-|-	1|2	0|0	ANK1|ANK1	41671933|41671933	1.000000|1.000000	0.71417|0.71417	0.224000|0.224000	0.23877|0.23877	0.726000|0.726000	0.41606|0.41606	7.818000|7.818000	0.86416|0.86416	2.350000|2.350000	0.79820|0.79820	0.563000|0.563000	0.77884|0.77884	GAA|CGA		0.617	ANK1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317297.1	NM_020475		11	75	0	0	0	0.38729	0	11	75					T	41552776	C	T	41552776	3	4	207	1	0	0	0	0	1	0	0	0	620	893	31	2	3001	2	ANK1	8	41552776	Missense_Mutation	SNP	C	TCGA-HC-7231-01A-11D-2114-08		41552776	104811246	27	9536											
TMEM2	23670	broad.mit.edu	37	chr9	74349890	74349890	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tccatctacaacctctacccGgaatcctgaaagagaaacgc	14	7	6	14	2	2	2	0	1	2	1	4	4	4	3	4	1	4	0	4	1	6	2	rs151327312		TCGA-HC-7231-01A-11D-2114-08	TCGA-HC-7231-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d995ea6-3c34-4bbb-a828-25f95800d404	b981708f-4f68-41ff-9f80-20bb1d64d4fc	g.chr9:74349890G>A	ENST00000377044.4	-	6	1764	c.1225C>T	c.(1225-1227)Cgg>Tgg	p.R409W	TMEM2_ENST00000377066.5_Intron	NM_001135820.1|NM_013390.2	NP_001129292.1|NP_037522.1	Q9UHN6	TMEM2_HUMAN	transmembrane protein 2	409					multicellular organismal development (GO:0007275)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(15)|liver(1)|lung(19)|ovary(2)|prostate(5)|skin(1)|stomach(1)|urinary_tract(2)	56		all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255)		GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16)		ACCTCTACCCGGAATCCTGAA	0.373																																						ENST00000377044.4																			0				central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(15)|liver(1)|lung(19)|ovary(2)|prostate(5)|skin(1)|stomach(1)|urinary_tract(2)	56						c.(1225-1227)Cgg>Tgg		transmembrane protein 2		G	,TRP/ARG	0,4406		0,0,2203	130	126	128		,1225	3.2	1	9	dbSNP_134	128	1,8599	1.2+/-3.3	0,1,4299	no	intron,missense	TMEM2	NM_001135820.1,NM_013390.2	,101	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,benign	,409/1384	74349890	1,13005	2203	4300	6503	SO:0001583	missense	23670					integral to membrane		g.chr9:74349890G>A		CCDS6638.1, CCDS47979.1	9q21.13	2011-07-19			ENSG00000135048	ENSG00000135048			11869	protein-coding gene	gene with protein product		605835					Standard	NM_013390		Approved		uc011lsa.1	Q9UHN6	OTTHUMG00000020000	ENST00000377044.4:c.1225C>T	9.37:g.74349890G>A	ENSP00000366243:p.Arg409Trp					TMEM2_ENST00000377066.5_Intron	p.R409W	NM_001135820.1|NM_013390.2	NP_001129292.1|NP_037522.1	Q9UHN6	TMEM2_HUMAN		GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16)	6	1764	-		all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255)	409					A6H8W9|B2RTQ6|Q5T838|Q5T839|Q5T840|Q5T841|Q8NBP6|Q9P2D5	Missense_Mutation	SNP	ENST00000377044.4	37	c.1225C>T	CCDS6638.1	.	.	.	.	.	.	.	.	.	.	G	16.94	3.259776	0.59321	0.0	1.16E-4	ENSG00000135048	ENST00000377044	T	0.73789	-0.78	6.08	3.23	0.37069	.	0.232716	0.44688	N	0.000434	T	0.61451	0.2348	L	0.29908	0.895	0.80722	D	1	B	0.09022	0.002	B	0.01281	0.0	T	0.55617	-0.8113	10	0.62326	D	0.03	.	10.0758	0.42360	0.0936:0.0:0.7872:0.1192	.	409	Q9UHN6	TMEM2_HUMAN	W	409	ENSP00000366243:R409W	ENSP00000366243:R409W	R	-	1	2	TMEM2	73539710	1.000000	0.71417	0.994000	0.49952	0.993000	0.82548	3.731000	0.55013	0.441000	0.26529	0.655000	0.94253	CGG		0.373	TMEM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052618.2	NM_013390		3	79	0	0	0	0.115264	0	3	79					A	74349890	G	A	74349890	3	1	207	1	0	0	0	0	1	0	0	0	16118	1115	39	2	3002	2	TMEM2	9	74349890	Missense_Mutation	SNP	G	TCGA-HC-7231-01A-11D-2114-08		74349890	66863541	28	9537											
COL27A1	85301	broad.mit.edu	37	chr9	117014898	117014898	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgtggcatgatgggaccccCaggcgtgcctggacccaagg	7	6	15	13	2	0	1	0	1	0	0	1	3	0	3	4	5	1	1	4	5	1	0			TCGA-HC-7231-01A-11D-2114-08	TCGA-HC-7231-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d995ea6-3c34-4bbb-a828-25f95800d404	b981708f-4f68-41ff-9f80-20bb1d64d4fc	g.chr9:117014898C>A	ENST00000356083.3	+	26	3450	c.3059C>A	c.(3058-3060)cCa>cAa	p.P1020Q		NM_032888.2	NP_116277.2	Q8IZC6	CORA1_HUMAN	collagen, type XXVII, alpha 1	1020	Collagen-like 7.|Pro-rich.|Triple-helical region.				extracellular matrix organization (GO:0030198)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|fibrillar collagen trimer (GO:0005583)	extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)			central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						ATGGGACCCCCAGGCGTGCCT	0.607																																						ENST00000356083.3																			0				central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						c.(3058-3060)cCa>cAa		collagen, type XXVII, alpha 1							149	138	142					9																	117014898		2203	4300	6503	SO:0001583	missense	85301				cell adhesion		extracellular matrix structural constituent	g.chr9:117014898C>A	AB058773	CCDS6802.1	9q33.1	2013-01-16			ENSG00000196739	ENSG00000196739		"Collagens"	22986	protein-coding gene	gene with protein product		608461				12766169	Standard	NM_032888		Approved	KIAA1870, MGC11337, FLJ11895	uc011lxl.2	Q8IZC6	OTTHUMG00000020537	ENST00000356083.3:c.3059C>A	9.37:g.117014898C>A	ENSP00000348385:p.Pro1020Gln						p.P1020Q	NM_032888.2	NP_116277.2	Q8IZC6	CORA1_HUMAN			26	3450	+			1020			Collagen-like 7.|Pro-rich.|Triple-helical region.		Q66K43|Q96JF7	Missense_Mutation	SNP	ENST00000356083.3	37	c.3059C>A	CCDS6802.1	.	.	.	.	.	.	.	.	.	.	C	15.31	2.794262	0.50102	.	.	ENSG00000196739	ENST00000356083;ENST00000357257	D	0.93307	-3.2	5.24	5.24	0.73138	.	.	.	.	.	D	0.93706	0.7989	L	0.38953	1.18	0.54753	D	0.999983	D	0.89917	1.0	D	0.85130	0.997	D	0.90228	0.4277	9	0.12766	T	0.61	.	14.2119	0.65771	0.0:1.0:0.0:0.0	.	1020	Q8IZC6	CORA1_HUMAN	Q	1020	ENSP00000348385:P1020Q	ENSP00000348385:P1020Q	P	+	2	0	COL27A1	116054719	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	5.185000	0.65076	2.724000	0.93272	0.561000	0.74099	CCA		0.607	COL27A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053763.1	NM_032888		4	157	1	0	0.217242	0.217242	0.231921	4	157					A	117014898	C	A	117014898	3	1	207	1	0	0	0	0	1	0	0	0	3685	594	21	5	3161	5	COL27A1	9	117014898	Missense_Mutation	SNP	C	TCGA-HC-7231-01A-11D-2114-08	42665008	117014898	24198533	29	9538											
MYST4	23522	broad.mit.edu	37	chr10	76788961	76788961	+	Nonsense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggaaaaccaggagactttttTagaccttaatgtgcagcctg	12	11	10	8	0	0	2	0	0	0	2	0	4	0	3	3	2	3	1	3	2	4	4			TCGA-HC-7231-01A-11D-2114-08	TCGA-HC-7231-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d995ea6-3c34-4bbb-a828-25f95800d404	b981708f-4f68-41ff-9f80-20bb1d64d4fc	g.chr10:76788961T>G	ENST00000287239.4	+	18	4868	c.4379T>G	c.(4378-4380)tTa>tGa	p.L1460*	KAT6B_ENST00000372711.1_Nonsense_Mutation_p.L1277*|KAT6B_ENST00000372725.1_Nonsense_Mutation_p.L1168*|KAT6B_ENST00000372714.1_Nonsense_Mutation_p.L1168*|KAT6B_ENST00000372724.1_Nonsense_Mutation_p.L1168*	NM_001256468.1|NM_012330.3	NP_001243397.1|NP_036462.2	Q8WYB5	KAT6B_HUMAN	K(lysine) acetyltransferase 6B	1460					chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone H3 acetylation (GO:0043966)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	acetyltransferase activity (GO:0016407)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)										GAGACTTTTTTAGACCTTAAT	0.507																																						ENST00000287239.4																			0											c.(4378-4380)tTa>tGa		K(lysine) acetyltransferase 6B							68	75	73					10																	76788961		2203	4300	6503	SO:0001587	stop_gained	23522				histone H3 acetylation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription factor binding|zinc ion binding	g.chr10:76788961T>G	AF113514	CCDS7345.1, CCDS58084.1, CCDS58085.1	10q22.2	2013-01-28	2011-07-21	2011-07-21	ENSG00000156650	ENSG00000156650		"Chromatin-modifying enzymes / K-acetyltransferases", "Zinc fingers, C2HC-type containing", "Zinc fingers, PHD-type"	17582	protein-coding gene	gene with protein product	"MOZ-related factor"	605880	"MYST histone acetyltransferase (monocytic leukemia) 4"	MYST4		9205841, 10497217	Standard	NM_012330		Approved	querkopf, qkf, Morf, MOZ2, ZC2HC6B	uc001jwn.2	Q8WYB5	OTTHUMG00000018509	ENST00000287239.4:c.4379T>G	10.37:g.76788961T>G	ENSP00000287239:p.Leu1460*					KAT6B_ENST00000372714.1_Nonsense_Mutation_p.L1168*|KAT6B_ENST00000372725.1_Nonsense_Mutation_p.L1168*|KAT6B_ENST00000372711.1_Nonsense_Mutation_p.L1277*|KAT6B_ENST00000372724.1_Nonsense_Mutation_p.L1168*	p.L1460*	NM_001256468.1|NM_012330.3	NP_001243397.1|NP_036462.2	Q8WYB5	MYST4_HUMAN			18	4868	+			1460					O15087|Q86Y05|Q8WU81|Q9UKW2|Q9UKW3|Q9UKX0	Nonsense_Mutation	SNP	ENST00000287239.4	37	c.4379T>G	CCDS7345.1	.	.	.	.	.	.	.	.	.	.	T	40	8.525424	0.98848	.	.	ENSG00000156650	ENST00000372725;ENST00000372724;ENST00000287239;ENST00000372714;ENST00000372711	.	.	.	4.81	4.81	0.61882	.	0.000000	0.39407	N	0.001363	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-4.1057	14.3656	0.66803	0.0:0.0:0.0:1.0	.	.	.	.	X	1168;1168;1460;1168;1277	.	ENSP00000287239:L1460X	L	+	2	0	KAT6B	76458967	1.000000	0.71417	1.000000	0.80357	0.525000	0.34531	3.946000	0.56644	1.804000	0.52760	0.533000	0.62120	TTA		0.507	KAT6B-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048771.1	NM_012330		3	51	0	0	0	0.217242	0	3	51					G	76788961	T	G	76788961	4	3	207	1	0	0	0	0	0	1	0	0	10105	1764	61	5	4441	5	MYST4	10	76788961	Nonsense_Mutation	SNP	T	TCGA-HC-7231-01A-11D-2114-08		76788961	58745786	30	9539											
C10orf119	79892	broad.mit.edu	37	chr10	121598206	121598206	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctctatagtcatctgcagacGaaaagactgcaaagagaaat	17	8	8	8	1	3	3	1	0	2	3	3	5	3	3	0	0	2	2	0	0	6	2			TCGA-HC-7231-01A-11D-2114-08	TCGA-HC-7231-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d995ea6-3c34-4bbb-a828-25f95800d404	b981708f-4f68-41ff-9f80-20bb1d64d4fc	g.chr10:121598206G>A	ENST00000360003.3	-	12	1424	c.1255C>T	c.(1255-1257)Cgt>Tgt	p.R419C	MCMBP_ENST00000369077.3_Missense_Mutation_p.R417C|MCMBP_ENST00000466047.1_5'UTR	NM_001256378.1|NM_001256379.1|NM_024834.3	NP_001243307.1|NP_001243308.1|NP_079110.1	Q9BTE3	MCMBP_HUMAN	minichromosome maintenance complex binding protein	419					DNA-dependent DNA replication (GO:0006261)|mitotic nuclear division (GO:0007067)|sister chromatid cohesion (GO:0007062)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	chromatin binding (GO:0003682)			breast(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(2)|skin(2)	21						ATCTGCAGACGAAAAGACTGC	0.378																																						ENST00000360003.3																			0				breast(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(2)|skin(2)	21						c.(1255-1257)Cgt>Tgt		minichromosome maintenance complex binding protein							51	52	52					10																	121598206		2203	4300	6503	SO:0001583	missense	79892				cell division|DNA-dependent DNA replication|mitosis|S phase of mitotic cell cycle|sister chromatid cohesion	nucleus	chromatin binding	g.chr10:121598206G>A	BC007219	CCDS7617.1, CCDS58099.1	10q26.13	2013-10-11	2011-01-05	2011-01-05	ENSG00000197771	ENSG00000197771			25782	protein-coding gene	gene with protein product		610909	"chromosome 10 open reading frame 119"	C10orf119		17296731	Standard	NM_024834		Approved	FLJ13081, MCM-BP	uc001ler.3	Q9BTE3	OTTHUMG00000019159	ENST00000360003.3:c.1255C>T	10.37:g.121598206G>A	ENSP00000353098:p.Arg419Cys					MCMBP_ENST00000369077.3_Missense_Mutation_p.R417C|MCMBP_ENST00000466047.1_5'UTR	p.R419C	NM_001256378.1|NM_001256379.1|NM_024834.3	NP_001243307.1|NP_001243308.1|NP_079110.1	Q9BTE3	MCMBP_HUMAN			12	1424	-			419					B3KSP7|Q6IA56|Q9BVT9|Q9H916	Missense_Mutation	SNP	ENST00000360003.3	37	c.1255C>T	CCDS7617.1	.	.	.	.	.	.	.	.	.	.	G	19.49	3.837067	0.71373	.	.	ENSG00000197771	ENST00000360003;ENST00000369077	.	.	.	5.52	4.56	0.56223	.	0.308948	0.36932	N	0.002335	T	0.48295	0.1492	L	0.36672	1.1	0.41655	D	0.989155	D	0.71674	0.998	P	0.51229	0.663	T	0.42378	-0.9455	9	0.40728	T	0.16	-7.7909	8.6855	0.34234	0.0753:0.0:0.7727:0.152	.	419	Q9BTE3	MCMBP_HUMAN	C	419;417	.	ENSP00000353098:R419C	R	-	1	0	MCMBP	121588196	1.000000	0.71417	0.621000	0.29145	0.993000	0.82548	5.495000	0.66912	2.586000	0.87340	0.655000	0.94253	CGT		0.378	MCMBP-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000050684.1	NM_024834		3	43	0	0	0	0.150653	0	3	43					A	121598206	G	A	121598206	3	1	207	1	0	0	0	0	1	0	0	0	1588	1058	37	2	693	2	C10orf119	10	121598206	Missense_Mutation	SNP	G	TCGA-HC-7231-01A-11D-2114-08	44809245	121598206	13936541	31	9540											
DMBT1	1755	broad.mit.edu	37	chr10	124392786	124392786	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tatcccgggaactatccaaaCaatgccaagtgtgtgtggga	12	9	11	9	1	0	0	0	0	0	0	2	2	2	2	3	2	3	0	3	2	6	2			TCGA-HC-7231-01A-11D-2114-08	TCGA-HC-7231-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d995ea6-3c34-4bbb-a828-25f95800d404	b981708f-4f68-41ff-9f80-20bb1d64d4fc	g.chr10:124392786C>A	ENST00000338354.3	+	49	6196	c.6090C>A	c.(6088-6090)aaC>aaA	p.N2030K	DMBT1_ENST00000330163.4_Missense_Mutation_p.N1402K|DMBT1_ENST00000368909.3_Missense_Mutation_p.N2030K|DMBT1_ENST00000368955.3_Missense_Mutation_p.N2020K|DMBT1_ENST00000344338.3_Missense_Mutation_p.N2020K|DMBT1_ENST00000359586.6_Missense_Mutation_p.N750K|DMBT1_ENST00000368956.2_Missense_Mutation_p.N1402K			Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	2030	CUB 2. {ECO:0000255|PROSITE- ProRule:PRU00059}.				defense response to virus (GO:0051607)|epithelial cell differentiation (GO:0030855)|induction of bacterial agglutination (GO:0043152)|innate immune response (GO:0045087)|inner cell mass cell proliferation (GO:0001833)|pattern recognition receptor signaling pathway (GO:0002221)|positive regulation of epithelial cell differentiation (GO:0030858)|protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)|viral process (GO:0016032)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|phagocytic vesicle membrane (GO:0030670)|proteinaceous extracellular matrix (GO:0005578)|zymogen granule membrane (GO:0042589)	calcium-dependent protein binding (GO:0048306)|scavenger receptor activity (GO:0005044)|signaling pattern recognition receptor activity (GO:0008329)|zymogen binding (GO:0035375)			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				ACTATCCAAACAATGCCAAGT	0.498																																					Ovarian(182;93 2026 18125 22222 38972)	ENST00000338354.3																			0				breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72						c.(6088-6090)aaC>aaA		deleted in malignant brain tumors 1							150	146	147					10																	124392786		1957	4154	6111	SO:0001583	missense	1755				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding	g.chr10:124392786C>A		CCDS44490.1, CCDS44491.1, CCDS44492.1	10q25.3-q26.1	2008-08-01			ENSG00000187908	ENSG00000187908			2926	protein-coding gene	gene with protein product		601969				9288095, 17548659	Standard	NM_004406		Approved	GP340, muclin	uc001lgk.1	Q9UGM3	OTTHUMG00000019185	ENST00000338354.3:c.6090C>A	10.37:g.124392786C>A	ENSP00000342210:p.Asn2030Lys					DMBT1_ENST00000330163.4_Missense_Mutation_p.N1402K|DMBT1_ENST00000359586.6_Missense_Mutation_p.N750K|DMBT1_ENST00000368955.3_Missense_Mutation_p.N2020K|DMBT1_ENST00000368909.3_Missense_Mutation_p.N2030K|DMBT1_ENST00000368956.2_Missense_Mutation_p.N1402K|DMBT1_ENST00000344338.3_Missense_Mutation_p.N2020K	p.N2030K			Q9UGM3	DMBT1_HUMAN			49	6196	+		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)	2030			CUB 2.		A6NDG4|A6NDJ5|A8E4R5|B1ARE7|B1ARE8|B1ARE9|B1ARF0|B7Z8Y2|F8WEF7|Q59EX0|Q5JR26|Q6MZN4|Q96DU4|Q9UGM2|Q9UJ57|Q9UKJ4|Q9Y211|Q9Y4V9	Missense_Mutation	SNP	ENST00000338354.3	37	c.6090C>A		.	.	.	.	.	.	.	.	.	.	C	15.47	2.841916	0.51057	.	.	ENSG00000187908	ENST00000338354;ENST00000368915;ENST00000341278;ENST00000368953;ENST00000339871;ENST00000368942;ENST00000327438;ENST00000344338;ENST00000339712;ENST00000330163;ENST00000368909;ENST00000368955;ENST00000368956;ENST00000344467;ENST00000359586	T;T;T;T;T;T;T	0.30981	1.51;1.51;1.51;1.51;1.51;1.51;1.51	5.28	2.35	0.29111	CUB (5);	1.310530	0.05553	U	0.567956	T	0.38639	0.1048	M	0.68728	2.09	0.33186	D	0.550168	P;B;B;B;B;P;P	0.52316	0.952;0.082;0.379;0.313;0.379;0.552;0.606	P;B;B;B;B;B;B	0.51582	0.674;0.058;0.091;0.219;0.091;0.255;0.372	T	0.45469	-0.9259	10	0.11182	T	0.66	.	5.179	0.15150	0.1679:0.6495:0.0:0.1826	.	750;2010;1279;2159;1402;2020;2030	F8WEF7;Q9UGM3-5;Q9UGM3-8;Q9UGM3-6;Q9UGM3-2;Q9UGM3-3;Q9UGM3	.;.;.;.;.;.;DMBT1_HUMAN	K	2030;2159;2030;2030;2030;2029;1402;2020;1402;1402;2030;2020;1402;176;750	ENSP00000342210:N2030K;ENSP00000343175:N2020K;ENSP00000327747:N1402K;ENSP00000357905:N2030K;ENSP00000357951:N2020K;ENSP00000357952:N1402K;ENSP00000352593:N750K	ENSP00000331522:N1402K	N	+	3	2	DMBT1	124382776	0.951000	0.32395	0.958000	0.39756	0.529000	0.34654	0.825000	0.27393	0.577000	0.29470	-0.311000	0.09066	AAC		0.498	DMBT1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000050792.2	NM_004406		6	113	1	0	0.000157383	0.27861	0.000182842	6	113					A	124392786	C	A	124392786	3	1	207	1	0	0	0	0	1	0	0	0	4577	477	17	5	6284	5	DMBT1	10	124392786	Missense_Mutation	SNP	C	TCGA-HC-7231-01A-11D-2114-08	2794580	124392786	11141961	32	9541											
C11orf41	25758	broad.mit.edu	37	chr11	33689641	33689641	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cggcccttgtgaaggccatcCgggaggaggtggccaagctg	7	6	17	11	2	0	1	0	1	0	0	1	3	1	3	4	6	1	1	4	6	2	1			TCGA-HC-7231-01A-11D-2114-08	TCGA-HC-7231-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d995ea6-3c34-4bbb-a828-25f95800d404	b981708f-4f68-41ff-9f80-20bb1d64d4fc	g.chr11:33689641C>T	ENST00000321505.4	+	20	5671	c.5491C>T	c.(5491-5493)Cgg>Tgg	p.R1831W	KIAA1549L_ENST00000389726.3_Missense_Mutation_p.R1837W|RP4-541C22.5_ENST00000534431.1_RNA			Q6ZVL6	K154L_HUMAN	KIAA1549-like	1831						integral component of membrane (GO:0016021)											GAAGGCCATCCGGGAGGAGGT	0.607																																						ENST00000321505.4																			0											c.(5491-5493)Cgg>Tgg		KIAA1549-like							42	49	47					11																	33689641		1990	4180	6170	SO:0001583	missense	25758							g.chr11:33689641C>T	U10991	CCDS44565.1, CCDS44565.2	11p13	2012-08-09	2012-08-09	2012-08-09	ENSG00000110427	ENSG00000110427			24836	protein-coding gene	gene with protein product		612297	"chromosome 11 open reading frame 69", "chromosome 11 open reading frame 41"	C11orf69, C11orf41			Standard	NM_012194		Approved	G2, MGC34830	uc021qfs.1	Q6ZVL6	OTTHUMG00000150410	ENST00000321505.4:c.5491C>T	11.37:g.33689641C>T	ENSP00000315295:p.Arg1831Trp					RP4-541C22.5_ENST00000534431.1_RNA|KIAA1549L_ENST00000389726.3_Missense_Mutation_p.R1837W	p.R1831W							20	5671	+								B0QYU0	Missense_Mutation	SNP	ENST00000321505.4	37	c.5491C>T	CCDS44565.2	.	.	.	.	.	.	.	.	.	.	C	21.5	4.152817	0.78001	.	.	ENSG00000110427	ENST00000321505;ENST00000389726;ENST00000536568	.	.	.	5.67	3.61	0.41365	.	0.000000	0.64402	D	0.000015	T	0.63954	0.2555	L	0.27053	0.805	0.40880	D	0.983982	D	0.89917	1.0	D	0.91635	0.999	T	0.69316	-0.5177	9	0.87932	D	0	-13.2425	15.072	0.72046	0.2167:0.7833:0.0:0.0	.	1837	E9PAT2	.	W	1831;1837;1670	.	ENSP00000315295:R1831W	R	+	1	2	C11orf41	33646217	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.597000	0.36729	2.686000	0.91538	0.561000	0.74099	CGG		0.607	KIAA1549L-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317998.1	NM_012194		3	29	0	0	0	0.150653	0	3	29					T	33689641	C	T	33689641	3	4	207	1	0	0	0	0	1	0	0	0	1640	643	23	2	5587	2	C11orf41	11	33689641	Missense_Mutation	SNP	C	TCGA-HC-7231-01A-11D-2114-08		33689641	101316875	33	9542											
STX3	6809	broad.mit.edu	37	chr11	59559664	59559664	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccgagaacgcagcaaagggCgaatccagcggcagctcgaa	13	3	13	12	5	0	1	0	0	0	1	3	4	2	1	2	2	4	4	2	2	4	0			TCGA-HC-7231-01A-11D-2114-08	TCGA-HC-7231-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d995ea6-3c34-4bbb-a828-25f95800d404	b981708f-4f68-41ff-9f80-20bb1d64d4fc	g.chr11:59559664C>A	ENST00000337979.4	+	6	989	c.442C>A	c.(442-444)Cga>Aga	p.R148R	STX3_ENST00000437946.2_Silent_p.R51R|STX3_ENST00000535361.1_Silent_p.R148R|STX3_ENST00000300150.7_Silent_p.R117R|STX3_ENST00000529177.1_Silent_p.R148R	NM_001178040.1|NM_004177.4	NP_001171511.1|NP_004168.1	Q13277	STX3_HUMAN	syntaxin 3	148					exocytosis (GO:0006887)|intracellular protein transport (GO:0006886)|long-term synaptic potentiation (GO:0060291)|membrane fusion (GO:0061025)|neuron projection development (GO:0031175)|neurotransmitter transport (GO:0006836)	apical plasma membrane (GO:0016324)|azurophil granule (GO:0042582)|cell-cell junction (GO:0005911)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|SNARE complex (GO:0031201)|specific granule (GO:0042581)|vacuole (GO:0005773)	arachidonic acid binding (GO:0050544)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|skin(1)	13						CAGCAAAGGGCGAATCCAGCG	0.512																																						ENST00000535361.1																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|skin(1)	13						c.(442-444)Cga>Aga		syntaxin 3							121	102	108					11																	59559664		2201	4295	6496	SO:0001819	synonymous_variant	6809				cellular response to oxidative stress|intracellular protein transport|neuron projection development|neurotransmitter transport	apical plasma membrane|azurophil granule|cell-cell junction|growth cone|integral to membrane|plasma membrane enriched fraction|SNARE complex|specific granule	arachidonic acid binding|SNAP receptor activity	g.chr11:59559664C>A	AJ002076	CCDS7975.1, CCDS53637.1	11q12.1	2008-02-05	2006-04-25	2006-04-25	ENSG00000166900	ENSG00000166900			11438	protein-coding gene	gene with protein product		600876	"syntaxin 3A"	STX3A		16598260, 16339081	Standard	NM_004177		Approved		uc001nog.3	Q13277	OTTHUMG00000167353	ENST00000337979.4:c.442C>A	11.37:g.59559664C>A						STX3_ENST00000437946.2_Silent_p.R51R|STX3_ENST00000529177.1_Silent_p.R148R|STX3_ENST00000300150.7_Silent_p.R117R|STX3_ENST00000337979.4_Silent_p.R148R	p.R148R			Q13277	STX3_HUMAN			6	989	+			148					B4DME0|O43750|O43751|Q15360	Silent	SNP	ENST00000337979.4	37	c.442C>A	CCDS7975.1																																																																																				0.512	STX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394264.1	NM_004177		3	52	1	0	0.00909568	0.150653	0.0101205	3	52					A	59559664	C	A	59559664	2	1	207	1	0	0	0	0	0	0	0	1	15345	760	27	5		5	STX3	11	59559664	Silent	SNP	C	TCGA-HC-7231-01A-11D-2114-08	25870023	59559664	75446852	34	9543											
P4HA3	283208	broad.mit.edu	37	chr11	74015374	74015374	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctccagtcagactgcaggCgtttgatgagagtaaatgca	11	10	11	9	1	1	3	1	2	0	2	3	4	3	3	2	1	2	4	2	1	2	2			TCGA-HC-7231-01A-11D-2114-08	TCGA-HC-7231-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d995ea6-3c34-4bbb-a828-25f95800d404	b981708f-4f68-41ff-9f80-20bb1d64d4fc	g.chr11:74015374C>A	ENST00000331597.4	-	2	329	c.284G>T	c.(283-285)cGc>cTc	p.R95L	P4HA3_ENST00000427714.2_Missense_Mutation_p.R95L	NM_182904.3	NP_878907.1	Q7Z4N8	P4HA3_HUMAN	prolyl 4-hydroxylase, alpha polypeptide III	95						endoplasmic reticulum (GO:0005783)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen (GO:0016702)|procollagen-proline 4-dioxygenase activity (GO:0004656)			NS(1)|biliary_tract(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(5)|skin(1)	15	Breast(11;2.31e-05)					AGACTGCAGGCGTTTGATGAG	0.478																																						ENST00000331597.4																			0				NS(1)|biliary_tract(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(5)|skin(1)	15						c.(283-285)cGc>cTc		prolyl 4-hydroxylase, alpha polypeptide III							173	173	173					11																	74015374		2200	4293	6493	SO:0001583	missense	283208					endoplasmic reticulum lumen	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 4-dioxygenase activity	g.chr11:74015374C>A	AY327887	CCDS8230.1, CCDS73347.1	11q13	2008-12-09	2008-12-09			ENSG00000149380			30135	protein-coding gene	gene with protein product	"collagen prolyl 4-hydroxylase alpha(III)"	608987	"procollagen-proline, 2-oxoglutarate 4-dioxygenase (proline 4-hydroxylase), alpha polypeptide III"			14500733	Standard	XM_005273924		Approved	C-P4Halpha(III)	uc001ouz.3	Q7Z4N8		ENST00000331597.4:c.284G>T	11.37:g.74015374C>A	ENSP00000332170:p.Arg95Leu					P4HA3_ENST00000427714.2_Missense_Mutation_p.R95L	p.R95L	NM_182904.3	NP_878907.1	Q7Z4N8	P4HA3_HUMAN			2	329	-	Breast(11;2.31e-05)		95					A0AV13|B4DUD3|Q5EBL3|Q5JPA9	Missense_Mutation	SNP	ENST00000331597.4	37	c.284G>T	CCDS8230.1	.	.	.	.	.	.	.	.	.	.	C	16.51	3.142749	0.57044	.	.	ENSG00000149380	ENST00000331597;ENST00000427714	T;T	0.73789	-0.51;-0.78	5.79	4.87	0.63330	Prolyl 4-hydroxylase alpha-subunit, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.87565	0.6209	M	0.86740	2.835	0.54753	D	0.999983	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.89765	0.3950	10	0.87932	D	0	-10.5484	14.6605	0.68868	0.0:0.8536:0.1464:0.0	.	95;95	B4DUD3;Q7Z4N8	.;P4HA3_HUMAN	L	95	ENSP00000332170:R95L;ENSP00000401749:R95L	ENSP00000332170:R95L	R	-	2	0	P4HA3	73693022	1.000000	0.71417	1.000000	0.80357	0.081000	0.17604	6.830000	0.75319	1.415000	0.47037	-0.176000	0.13171	CGC		0.478	P4HA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382988.1	NM_182904		7	196	1	0	3.09899e-07	0.307466	3.70939e-07	7	196					A	74015374	C	A	74015374	3	1	207	1	0	0	0	0	1	0	0	0	11358	768	27	5	1398	5	P4HA3	11	74015374	Missense_Mutation	SNP	C	TCGA-HC-7231-01A-11D-2114-08	14455710	74015374	60991142	35	9544											
LRRC32	2615	broad.mit.edu	37	chr11	76371902	76371902	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcccgcaggtcaagccaggtGagctggaactcagcctgggg	8	6	15	12	1	2	1	2	1	0	0	3	2	3	2	3	5	4	2	3	5	2	0			TCGA-HC-7231-01A-11D-2114-08	TCGA-HC-7231-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d995ea6-3c34-4bbb-a828-25f95800d404	b981708f-4f68-41ff-9f80-20bb1d64d4fc	g.chr11:76371902G>A	ENST00000407242.2	-	3	977	c.735C>T	c.(733-735)ctC>ctT	p.L245L	AP001189.4_ENST00000447519.1_RNA|LRRC32_ENST00000404995.1_Silent_p.L245L|LRRC32_ENST00000464145.1_Intron|LRRC32_ENST00000260061.5_Silent_p.L245L	NM_005512.2	NP_005503.1	Q14392	LRC32_HUMAN	leucine rich repeat containing 32	245					negative regulation of activated T cell proliferation (GO:0046007)|negative regulation of cytokine secretion (GO:0050710)|positive regulation of gene expression (GO:0010628)	integral component of plasma membrane (GO:0005887)				endometrium(1)|large_intestine(3)|lung(26)|upper_aerodigestive_tract(1)	31						CAAGCCAGGTGAGCTGGAACT	0.612																																						ENST00000407242.2																			0				endometrium(1)|large_intestine(3)|lung(26)|upper_aerodigestive_tract(1)	31						c.(733-735)ctC>ctT		leucine rich repeat containing 32							48	52	51					11																	76371902		2200	4292	6492	SO:0001819	synonymous_variant	2615					integral to plasma membrane		g.chr11:76371902G>A	Z24680	CCDS8245.1	11q13.5-q14	2008-02-05	2005-02-25	2005-02-25	ENSG00000137507	ENSG00000137507			4161	protein-coding gene	gene with protein product		137207	"glycoprotein A repetitions predominant"	D11S833E, GARP		8180135, 1543912	Standard	NM_005512		Approved		uc001oxq.4	Q14392	OTTHUMG00000133687	ENST00000407242.2:c.735C>T	11.37:g.76371902G>A						LRRC32_ENST00000260061.5_Silent_p.L245L|LRRC32_ENST00000464145.1_Intron|AP001189.4_ENST00000447519.1_RNA|LRRC32_ENST00000404995.1_Silent_p.L245L	p.L245L	NM_005512.2	NP_005503.1	Q14392	LRC32_HUMAN			3	977	-			245					Q86V06	Silent	SNP	ENST00000407242.2	37	c.735C>T	CCDS8245.1																																																																																				0.612	LRRC32-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257926.2	NM_005512		34	49	0	0	0	0.827153	0	34	49					A	76371902	G	A	76371902	2	1	207	1	0	0	0	0	0	0	0	1	8987	1277	45	3		3	LRRC32	11	76371902	Silent	SNP	G	TCGA-HC-7231-01A-11D-2114-08	2356528	76371902	58634614	36	9545											
GRM5	2915	broad.mit.edu	37	chr11	88780467	88780467	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgctgagcatctgaaggcaCaaccctcatgaaatatttga	13	10	8	10	0	2	4	1	4	1	0	2	4	2	4	1	1	3	3	1	1	4	2			TCGA-HC-7231-01A-11D-2114-08	TCGA-HC-7231-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d995ea6-3c34-4bbb-a828-25f95800d404	b981708f-4f68-41ff-9f80-20bb1d64d4fc	g.chr11:88780467C>A	ENST00000305447.4	-	1	723	c.574G>T	c.(574-576)Gtg>Ttg	p.V192L	GRM5_ENST00000393297.1_Missense_Mutation_p.V192L|GRM5_ENST00000305432.5_Missense_Mutation_p.V192L|GRM5_ENST00000393294.3_Missense_Mutation_p.V192L|GRM5_ENST00000418177.2_Missense_Mutation_p.V192L|GRM5_ENST00000455756.2_Missense_Mutation_p.V192L	NM_001143831.2	NP_001137303.1	P41594	GRM5_HUMAN	glutamate receptor, metabotropic 5	192					activation of MAPKKK activity (GO:0000185)|cognition (GO:0050890)|desensitization of G-protein coupled receptor protein signaling pathway (GO:0002029)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|learning (GO:0007612)|locomotory behavior (GO:0007626)|negative regulation of locomotion (GO:0040013)|phospholipase C-activating G-protein coupled glutamate receptor signaling pathway (GO:0007206)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein phosphorylation (GO:0006468)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of transcription, DNA-templated (GO:0006355)|synaptic transmission (GO:0007268)	astrocyte projection (GO:0097449)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)			NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)			Acamprosate(DB00659)|Rufinamide(DB06201)	TCTGAAGGCACAACCCTCATG	0.463																																						ENST00000418177.2																			0				NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90						c.(574-576)Gtg>Ttg		glutamate receptor, metabotropic 5	Acamprosate(DB00659)						93	80	85					11																	88780467		2201	4299	6500	SO:0001583	missense	2915				activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	g.chr11:88780467C>A	D28538	CCDS8283.1, CCDS44694.1	11q14.3	2014-06-12			ENSG00000168959	ENSG00000168959		"GPCR / Class C : Glutamate receptors, metabotropic", "Glutamate receptors"	4597	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 86"	604102				7908515	Standard	NM_001143831		Approved	MGLUR5, GPRC1E, mGlu5, PPP1R86	uc001pcq.3	P41594	OTTHUMG00000134306	ENST00000305447.4:c.574G>T	11.37:g.88780467C>A	ENSP00000306138:p.Val192Leu					GRM5_ENST00000455756.2_Missense_Mutation_p.V192L|GRM5_ENST00000393294.3_Missense_Mutation_p.V192L|GRM5_ENST00000305432.5_Missense_Mutation_p.V192L|GRM5_ENST00000393297.1_Missense_Mutation_p.V192L|GRM5_ENST00000305447.4_Missense_Mutation_p.V192L	p.V192L			P41594	GRM5_HUMAN			2	941	-		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)	192					Q6J164	Missense_Mutation	SNP	ENST00000305447.4	37	c.574G>T	CCDS44694.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	25.5|25.5	4.649607|4.649607	0.87958|0.87958	.|.	.|.	ENSG00000168959|ENSG00000168959	ENST00000449371|ENST00000418177;ENST00000455756;ENST00000305432;ENST00000305447;ENST00000393297;ENST00000393294	.|D;D;D;D;D;D	.|0.83250	.|-1.7;-1.7;-1.7;-1.7;-1.7;-1.7	5.4|5.4	5.4|5.4	0.78164|0.78164	.|Extracellular ligand-binding receptor (1);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.92414|0.92414	0.7592|0.7592	M|M	0.87180|0.87180	2.865|2.865	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.71674	.|0.997;0.998;0.998	.|D;D;D	.|0.77004	.|0.93;0.986;0.989	D|D	0.92856|0.92856	0.6301|0.6301	5|9	.|.	.|.	.|.	.|.	19.1788|19.1788	0.93614|0.93614	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|192;192;192	.|A8MT20;P41594-2;P41594	.|.;.;GRM5_HUMAN	F|L	24|192	.|ENSP00000402912:V192L;ENSP00000405690:V192L;ENSP00000305905:V192L;ENSP00000306138:V192L;ENSP00000376975:V192L;ENSP00000376972:V192L	.|.	L|V	-|-	3|1	2|0	GRM5|GRM5	88420115|88420115	1.000000|1.000000	0.71417|0.71417	0.992000|0.992000	0.48379|0.48379	0.975000|0.975000	0.68041|0.68041	7.687000|7.687000	0.84139|0.84139	2.514000|2.514000	0.84764|0.84764	0.563000|0.563000	0.77884|0.77884	TTG|GTG		0.463	GRM5-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000259226.1	NM_000842		12	93	1	0	4.3838e-07	0.435327	5.16896e-07	12	93					A	88780467	C	A	88780467	3	1	207	1	0	0	0	0	1	0	0	0	6800	478	17	5	3100	5	GRM5	11	88780467	Missense_Mutation	SNP	C	TCGA-HC-7231-01A-11D-2114-08	12408565	88780467	46226049	37	9546											
HSPA8	3312	broad.mit.edu	37	chr11	122928986	122928986	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cttatcaagccagttgataaTttcattacacttgtccagaa	13	14	5	9	0	2	2	2	1	0	1	3	2	3	2	2	0	2	1	2	0	5	6			TCGA-HC-7231-01A-11D-2114-08	TCGA-HC-7231-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d995ea6-3c34-4bbb-a828-25f95800d404	b981708f-4f68-41ff-9f80-20bb1d64d4fc	g.chr11:122928986T>C	ENST00000532636.1	-	8	1848	c.1729A>G	c.(1729-1731)Att>Gtt	p.I577V	HSPA8_ENST00000526862.1_5'Flank|HSPA8_ENST00000533540.1_Missense_Mutation_p.I431V|HSPA8_ENST00000534624.1_Missense_Mutation_p.I577V|SNORD14C_ENST00000365382.1_RNA|HSPA8_ENST00000227378.3_Missense_Mutation_p.I577V|HSPA8_ENST00000526110.1_Missense_Mutation_p.I558V|HSPA8_ENST00000534319.1_Missense_Mutation_p.I341V|HSPA8_ENST00000453788.2_Intron|SNORD14D_ENST00000384390.1_RNA|SNORD14E_ENST00000364009.1_RNA			P11142	HSP7C_HUMAN	heat shock 70kDa protein 8	577					ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|chaperone mediated protein folding requiring cofactor (GO:0051085)|clathrin coat disassembly (GO:0072318)|gene expression (GO:0010467)|membrane organization (GO:0061024)|mRNA metabolic process (GO:0016071)|mRNA processing (GO:0006397)|negative regulation of fibril organization (GO:1902904)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotransmitter secretion (GO:0007269)|post-Golgi vesicle-mediated transport (GO:0006892)|protein folding (GO:0006457)|protein refolding (GO:0042026)|regulation of cell cycle (GO:0051726)|response to unfolded protein (GO:0006986)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|synaptic transmission (GO:0007268)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	blood microparticle (GO:0072562)|clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane (GO:0061202)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|intracellular (GO:0005622)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|Prp19 complex (GO:0000974)|ribonucleoprotein complex (GO:0030529)|spliceosomal complex (GO:0005681)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled (GO:0042623)|enzyme binding (GO:0019899)|G-protein coupled receptor binding (GO:0001664)|heat shock protein binding (GO:0031072)|MHC class II protein complex binding (GO:0023026)|poly(A) RNA binding (GO:0044822)|ubiquitin protein ligase binding (GO:0031625)|unfolded protein binding (GO:0051082)			breast(1)|central_nervous_system(7)|endometrium(1)|kidney(9)|large_intestine(4)|lung(13)|upper_aerodigestive_tract(1)	36		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		CAGTTGATAATTTCATTACAC	0.393																																					Colon(21;486 594 5900 6733 14272)	ENST00000534624.1																			0				breast(1)|central_nervous_system(7)|endometrium(1)|kidney(9)|large_intestine(4)|lung(13)|upper_aerodigestive_tract(1)	36						c.(1729-1731)Att>Gtt		heat shock 70kDa protein 8							95	100	98					11																	122928986		2202	4299	6501	SO:0001583	missense	3312				cellular membrane organization|interspecies interaction between organisms|mRNA metabolic process|negative regulation of transcription, DNA-dependent|neurotransmitter secretion|post-Golgi vesicle-mediated transport|protein folding|response to unfolded protein|transcription, DNA-dependent	cell surface|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|melanosome|plasma membrane|ribonucleoprotein complex	ATP binding|ATPase activity, coupled|protein binding	g.chr11:122928986T>C	Y00371	CCDS8440.1, CCDS44754.1	11q24.1	2011-09-02	2002-08-29		ENSG00000109971	ENSG00000109971		"Heat shock proteins / HSP70"	5241	protein-coding gene	gene with protein product		600816	"heat shock 70kD protein 8"	HSPA10		8530083, 3037489	Standard	NM_006597		Approved	HSC71, HSC70, HSP73	uc001pyo.3	P11142	OTTHUMG00000166030	ENST00000532636.1:c.1729A>G	11.37:g.122928986T>C	ENSP00000437125:p.Ile577Val					HSPA8_ENST00000532636.1_Missense_Mutation_p.I577V|HSPA8_ENST00000526110.1_Missense_Mutation_p.I558V|HSPA8_ENST00000227378.3_Missense_Mutation_p.I577V|HSPA8_ENST00000453788.2_Intron|HSPA8_ENST00000534319.1_Missense_Mutation_p.I341V|HSPA8_ENST00000533540.1_Missense_Mutation_p.I431V	p.I577V	NM_006597.4	NP_006588.1	P11142	HSP7C_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)	8	2005	-		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	577					Q9H3R6	Missense_Mutation	SNP	ENST00000532636.1	37	c.1729A>G	CCDS8440.1	.	.	.	.	.	.	.	.	.	.	T	4.152	0.026677	0.08054	.	.	ENSG00000109971	ENST00000532636;ENST00000533540;ENST00000534624;ENST00000227378;ENST00000534319;ENST00000526110;ENST00000524552;ENST00000526686	T;T;T;T;T;T;T;T	0.12569	2.67;2.67;2.67;2.67;2.67;2.67;2.67;2.67	4.79	4.79	0.61399	.	0.082207	0.56097	D	0.000026	T	0.04092	0.0114	N	0.01771	-0.73	0.43678	D	0.996114	B;B	0.02656	0.0;0.0	B;B	0.09377	0.004;0.004	T	0.27434	-1.0074	10	0.02654	T	1	-18.3607	9.2189	0.37364	0.0:0.0819:0.0:0.9181	.	577;577	Q53GZ6;P11142	.;HSP7C_HUMAN	V	577;431;577;577;341;558;168;129	ENSP00000437125:I577V;ENSP00000437189:I431V;ENSP00000432083:I577V;ENSP00000227378:I577V;ENSP00000433316:I341V;ENSP00000433584:I558V;ENSP00000435908:I168V;ENSP00000435019:I129V	ENSP00000227378:I577V	I	-	1	0	HSPA8	122434196	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	2.768000	0.47645	1.923000	0.55706	0.459000	0.35465	ATT		0.393	HSPA8-004	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000387515.1			24	50	0	0	0	0.681144	0	24	50					C	122928986	T	C	122928986	3	2	207	1	0	0	0	0	1	0	0	0	7416	1493	52	4	219	4	HSPA8	11	122928986	Missense_Mutation	SNP	T	TCGA-HC-7231-01A-11D-2114-08	34148519	122928986	12077530	38	9547											
DDN	23109	broad.mit.edu	37	chr12	49391665	49391665	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgtagctttggcttggggatGgctgtcgctaccactgttca	5	14	13	9	1	1	0	1	0	0	0	2	1	1	1	1	4	2	6	1	4	2	5			TCGA-HC-7231-01A-11D-2114-08	TCGA-HC-7231-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d995ea6-3c34-4bbb-a828-25f95800d404	b981708f-4f68-41ff-9f80-20bb1d64d4fc	g.chr12:49391665G>A	ENST00000421952.2	-	2	1015	c.994C>T	c.(994-996)Cat>Tat	p.H332Y	RP11-386G11.3_ENST00000549516.1_RNA|RP11-386G11.5_ENST00000547866.1_RNA|RP11-386G11.5_ENST00000552284.1_RNA|RP11-386G11.5_ENST00000547395.1_RNA|RP11-386G11.5_ENST00000552933.1_RNA	NM_015086.1	NP_055901.2	O94850	DEND_HUMAN	dendrin	332						cell projection (GO:0042995)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|stomach(1)	8						GCTTGGGGATGGCTGTCGCTA	0.662																																						ENST00000421952.2																			0				NS(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|stomach(1)	8						c.(994-996)Cat>Tat		dendrin							47	55	52					12																	49391665		2203	4300	6503	SO:0001583	missense	23109					dendritic spine membrane|endoplasmic reticulum membrane|nucleus|perikaryon		g.chr12:49391665G>A	AB018292	CCDS31791.2	12q13	2008-02-05			ENSG00000181418	ENSG00000181418			24458	protein-coding gene	gene with protein product		610588					Standard	NM_015086		Approved	KIAA0749	uc001rsv.1	O94850	OTTHUMG00000156183	ENST00000421952.2:c.994C>T	12.37:g.49391665G>A	ENSP00000390590:p.His332Tyr						p.H332Y	NM_015086.1	NP_055901.2	O94850	DEND_HUMAN			2	1015	-			332						Missense_Mutation	SNP	ENST00000421952.2	37	c.994C>T	CCDS31791.2	.	.	.	.	.	.	.	.	.	.	G	18.43	3.622943	0.66901	.	.	ENSG00000181418	ENST00000421952	T	0.45668	0.89	3.88	2.06	0.26882	.	0.693465	0.12674	N	0.448508	T	0.26593	0.0650	N	0.24115	0.695	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.21008	-1.0258	10	0.66056	D	0.02	0.0188	5.8189	0.18516	0.3275:0.0:0.6725:0.0	.	332	O94850	DEND_HUMAN	Y	332	ENSP00000390590:H332Y	ENSP00000390590:H332Y	H	-	1	0	DDN	47677932	0.007000	0.16637	0.002000	0.10522	0.814000	0.46013	1.729000	0.38115	0.621000	0.30232	0.561000	0.74099	CAT		0.662	DDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343335.1			33	118	0	0	0	0.859065	0	33	118					A	49391665	G	A	49391665	3	1	207	1	0	0	0	0	1	0	0	0	4333	1348	47	3	1145	3	DDN	12	49391665	Missense_Mutation	SNP	G	TCGA-HC-7231-01A-11D-2114-08		49391665	84460230	39	9548											
SLC16A7	9194	broad.mit.edu	37	chr12	60168467	60168467	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagccttcaacctgcaacccGccttaaccataattggcaaa	13	9	5	14	1	1	0	1	0	0	0	1	0	1	0	5	1	5	2	5	1	6	5	rs543596862		TCGA-HC-7231-01A-11D-2114-08	TCGA-HC-7231-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d995ea6-3c34-4bbb-a828-25f95800d404	b981708f-4f68-41ff-9f80-20bb1d64d4fc	g.chr12:60168467G>A	ENST00000261187.4	+	4	555	c.391G>A	c.(391-393)Gcc>Acc	p.A131T	SLC16A7_ENST00000547379.1_Missense_Mutation_p.A131T|SLC16A7_ENST00000543448.1_Missense_Mutation_p.A32T|SLC16A7_ENST00000552432.1_Missense_Mutation_p.A131T|SLC16A7_ENST00000552024.1_Missense_Mutation_p.A131T	NM_004731.4	NP_004722.2	O60669	MOT2_HUMAN	solute carrier family 16 (monocarboxylate transporter), member 7	131					lactate transmembrane transport (GO:0035873)|pyruvate transmembrane transport (GO:1901475)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	lactate transmembrane transporter activity (GO:0015129)|pyruvate secondary active transmembrane transporter activity (GO:0005477)|pyruvate transmembrane transporter activity (GO:0050833)|secondary active monocarboxylate transmembrane transporter activity (GO:0015355)|symporter activity (GO:0015293)			endometrium(1)|large_intestine(14)|liver(2)|lung(11)|ovary(1)|skin(1)	30				GBM - Glioblastoma multiforme(3;0.0303)	Gamma Hydroxybutyric Acid(DB01440)|Niflumic Acid(DB04552)|Probenecid(DB01032)|Pyruvic acid(DB00119)	CCTGCAACCCGCCTTAACCAT	0.413																																						ENST00000261187.4																			0				endometrium(1)|large_intestine(14)|liver(2)|lung(11)|ovary(1)|skin(1)	30						c.(391-393)Gcc>Acc		solute carrier family 16 (monocarboxylate transporter), member 7	Pyruvic acid(DB00119)						79	72	75					12																	60168467		2203	4300	6503	SO:0001583	missense	9194					integral to plasma membrane|membrane fraction	pyruvate secondary active transmembrane transporter activity|secondary active monocarboxylate transmembrane transporter activity|symporter activity	g.chr12:60168467G>A	AF049608	CCDS8961.1	12q14.1	2013-07-18	2013-07-18		ENSG00000118596	ENSG00000118596		"Solute carriers"	10928	protein-coding gene	gene with protein product		603654	"solute carrier family 16 (monocarboxylic acid transporters), member 7"			9786900	Standard	NM_004731		Approved	MCT2	uc001sqt.4	O60669	OTTHUMG00000169923	ENST00000261187.4:c.391G>A	12.37:g.60168467G>A	ENSP00000261187:p.Ala131Thr					SLC16A7_ENST00000552432.1_Missense_Mutation_p.A131T|SLC16A7_ENST00000552024.1_Missense_Mutation_p.A131T|SLC16A7_ENST00000543448.1_Missense_Mutation_p.A32T|SLC16A7_ENST00000547379.1_Missense_Mutation_p.A131T	p.A131T	NM_001270622.1|NM_001270623.1|NM_004731.3	NP_001257551.1|NP_001257552.1|NP_004722.2	O60669	MOT2_HUMAN		GBM - Glioblastoma multiforme(3;0.0303)	4	555	+			131					Q8NEM3|Q9UPB3	Missense_Mutation	SNP	ENST00000261187.4	37	c.391G>A	CCDS8961.1	.	.	.	.	.	.	.	.	.	.	G	27.6	4.846192	0.91277	.	.	ENSG00000118596	ENST00000552432;ENST00000547379;ENST00000552024;ENST00000548610;ENST00000261187;ENST00000543448;ENST00000548444	T;T;T;T;T;T;T	0.37915	1.17;1.17;1.17;1.17;1.17;1.17;1.17	6.06	6.06	0.98353	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.051043	0.85682	D	0.000000	T	0.43344	0.1243	L	0.51422	1.61	0.80722	D	1	P	0.40534	0.72	P	0.47118	0.538	T	0.07635	-1.0762	9	.	.	.	.	15.3675	0.74535	0.0:0.0:0.8606:0.1394	.	131	O60669	MOT2_HUMAN	T	131;131;131;131;131;32;16	ENSP00000449547:A131T;ENSP00000448071:A131T;ENSP00000448742:A131T;ENSP00000446722:A131T;ENSP00000261187:A131T;ENSP00000443731:A32T;ENSP00000447814:A16T	.	A	+	1	0	SLC16A7	58454734	1.000000	0.71417	0.967000	0.41034	0.926000	0.56050	6.528000	0.73807	2.880000	0.98712	0.650000	0.86243	GCC		0.413	SLC16A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406587.1	NM_004731		8	56	0	0	0	0.361761	0	8	56					A	60168467	G	A	60168467	3	1	207	1	0	0	0	0	1	0	0	0	14413	1087	38	1	401	1	SLC16A7	12	60168467	Missense_Mutation	SNP	G	TCGA-HC-7231-01A-11D-2114-08	10776802	60168467	73683428	40	9549											
E2F7	144455	broad.mit.edu	37	chr12	77419608	77419608	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agagtagaagaaaccgggccCggcattgcaggagaatagag	15	4	15	7	2	0	5	0	0	0	5	0	6	0	5	2	3	2	3	2	3	5	3			TCGA-HC-7231-01A-11D-2114-08	TCGA-HC-7231-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d995ea6-3c34-4bbb-a828-25f95800d404	b981708f-4f68-41ff-9f80-20bb1d64d4fc	g.chr12:77419608C>T	ENST00000322886.7	-	12	2530	c.2295G>A	c.(2293-2295)ccG>ccA	p.P765P	E2F7_ENST00000416496.2_Intron	NM_203394.2	NP_976328.2	Q96AV8	E2F7_HUMAN	E2F transcription factor 7	765					chorionic trophoblast cell differentiation (GO:0060718)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|hepatocyte differentiation (GO:0070365)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cytokinesis (GO:0032466)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0071930)|placenta development (GO:0001890)|positive regulation of DNA endoreduplication (GO:0032877)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|sprouting angiogenesis (GO:0002040)|trophoblast giant cell differentiation (GO:0060707)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	core promoter binding (GO:0001047)|identical protein binding (GO:0042802)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(15)|lung(14)|ovary(3)|upper_aerodigestive_tract(2)	42						AAACCGGGCCCGGCATTGCAG	0.562																																						ENST00000322886.7																			0				central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(15)|lung(14)|ovary(3)|upper_aerodigestive_tract(2)	42						c.(2293-2295)ccG>ccA		E2F transcription factor 7							42	45	44					12																	77419608		2203	4300	6503	SO:0001819	synonymous_variant	144455				cell cycle	transcription factor complex	DNA binding|identical protein binding	g.chr12:77419608C>T	BC016658	CCDS9016.1	12q21.1	2008-02-05				ENSG00000165891			23820	protein-coding gene	gene with protein product		612046				12893818	Standard	NM_203394		Approved		uc001sym.4	Q96AV8	OTTHUMG00000169969	ENST00000322886.7:c.2295G>A	12.37:g.77419608C>T						E2F7_ENST00000416496.2_Intron	p.P765P	NM_203394.2	NP_976328.2	Q96AV8	E2F7_HUMAN			12	2530	-			765					A6NC74|B2RMR7|B3KTZ5|B3KUP8|B5MED9	Silent	SNP	ENST00000322886.7	37	c.2295G>A	CCDS9016.1																																																																																				0.562	E2F7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406716.1	XM_084871		10	13	0	0	0	0.38729	0	10	13					T	77419608	C	T	77419608	2	4	207	1	0	0	0	0	0	0	0	1	4872	639	23	2		2	E2F7	12	77419608	Silent	SNP	C	TCGA-HC-7231-01A-11D-2114-08	17251141	77419608	56432287	41	9550											
TSC2	7249	broad.mit.edu	37	chr16	2126130	2126130	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatgtggttcatcaggtgcCgcctgcccttccggaaggat	6	10	12	13	2	2	0	2	0	0	0	3	2	3	2	5	4	2	1	5	4	1	2	rs397515098		TCGA-HC-7231-01A-11D-2114-08	TCGA-HC-7231-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d995ea6-3c34-4bbb-a828-25f95800d404	b981708f-4f68-41ff-9f80-20bb1d64d4fc	g.chr16:2126130C>T	ENST00000219476.3	+	24	3331	c.2701C>T	c.(2701-2703)Cgc>Tgc	p.R901C	TSC2_ENST00000350773.4_Missense_Mutation_p.R901C|TSC2_ENST00000568454.1_Missense_Mutation_p.R912C|TSC2_ENST00000439673.2_Missense_Mutation_p.R864C|TSC2_ENST00000382538.6_Missense_Mutation_p.R852C|TSC2_ENST00000401874.2_Missense_Mutation_p.R901C|TSC2_ENST00000353929.4_Missense_Mutation_p.R901C	NM_000548.3	NP_000539.2	P49815	TSC2_HUMAN	tuberous sclerosis 2	901					acute-phase response (GO:0006953)|cell cycle arrest (GO:0007050)|cell projection organization (GO:0030030)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of TOR signaling (GO:0032007)|negative regulation of Wnt signaling pathway (GO:0030178)|neural tube closure (GO:0001843)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive chemotaxis (GO:0050918)|positive regulation of Ras GTPase activity (GO:0032320)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|protein import into nucleus (GO:0006606)|protein kinase B signaling (GO:0043491)|protein localization (GO:0008104)|regulation of cell cycle (GO:0051726)|regulation of endocytosis (GO:0030100)|regulation of insulin receptor signaling pathway (GO:0046626)|response to hypoxia (GO:0001666)|vesicle-mediated transport (GO:0016192)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|TSC1-TSC2 complex (GO:0033596)	GTPase activator activity (GO:0005096)|phosphatase binding (GO:0019902)|protein homodimerization activity (GO:0042803)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(3)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|soft_tissue(1)	56		Hepatocellular(780;0.0202)				CATCAGGTGCCGCCTGCCCTT	0.567			"D, Mis, N, F, S"			"hamartoma, renal cell"			Tuberous Sclerosis																													ENST00000219476.3			yes	Rec		Tuberous sclerosis 2	16	16p13.3	7249	"D, Mis, N, F, S"	tuberous sclerosis 2 gene			"E, O"		"hamartoma, renal cell"			0				NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(3)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|soft_tissue(1)	56						c.(2701-2703)Cgc>Tgc		tuberous sclerosis 2							126	101	110					16																	2126130		2198	4300	6498	SO:0001583	missense	7249	Tuberous Sclerosis	Familial Cancer Database	TS, Tuberous Sclerosis Complex, TSC, Bourneville-Pringle disease	cell cycle arrest|endocytosis|heart development|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|negative regulation of cell size|negative regulation of phosphatidylinositol 3-kinase cascade|negative regulation of protein kinase B signaling cascade|negative regulation of TOR signaling cascade|negative regulation of Wnt receptor signaling pathway|nerve growth factor receptor signaling pathway|neural tube closure|phosphatidylinositol-mediated signaling|positive chemotaxis|protein import into nucleus|protein kinase B signaling cascade|regulation of endocytosis|regulation of insulin receptor signaling pathway|regulation of small GTPase mediated signal transduction	Golgi apparatus|nucleus|perinuclear region of cytoplasm|TSC1-TSC2 complex	GTPase activator activity|protein homodimerization activity	g.chr16:2126130C>T	AB014460	CCDS10458.1, CCDS45384.1, CCDS58408.1	16p13.3	2014-09-17			ENSG00000103197	ENSG00000103197			12363	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 160"	191092		TSC4		1303246, 7558029	Standard	NM_001077183		Approved	tuberin, LAM, PPP1R160	uc002con.3	P49815	OTTHUMG00000128745	ENST00000219476.3:c.2701C>T	16.37:g.2126130C>T	ENSP00000219476:p.Arg901Cys					TSC2_ENST00000401874.2_Missense_Mutation_p.R901C|TSC2_ENST00000353929.4_Missense_Mutation_p.R901C|TSC2_ENST00000350773.4_Missense_Mutation_p.R901C|TSC2_ENST00000568454.1_Missense_Mutation_p.R912C|TSC2_ENST00000439673.2_Missense_Mutation_p.R864C|TSC2_ENST00000382538.6_Missense_Mutation_p.R852C	p.R901C	NM_000548.3	NP_000539.2	P49815	TSC2_HUMAN			24	3331	+		Hepatocellular(780;0.0202)	901					A7E2E2|B4DIL8|B4DIQ7|B4DRN2|B7Z2B8|C9J378|O75275|Q4LE71|Q8TAZ1	Missense_Mutation	SNP	ENST00000219476.3	37	c.2701C>T	CCDS10458.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.991222	0.74703	.	.	ENSG00000103197	ENST00000219476;ENST00000401874;ENST00000353929;ENST00000439673;ENST00000382538;ENST00000350773	D;D;D;D;D;D	0.89681	-2.55;-2.55;-2.55;-2.55;-2.55;-2.55	5.09	5.09	0.68999	Tuberin-type domain (1);	0.000000	0.85682	D	0.000000	D	0.93671	0.7978	M	0.75777	2.31	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	1.0;0.999;0.996;0.999;0.999;0.997	D	0.94188	0.7438	10	0.87932	D	0	-29.9173	13.4793	0.61326	0.1563:0.8437:0.0:0.0	.	852;864;901;901;901;901	B4DIL8;P49815-6;P49815-4;P49815-3;P49815-5;P49815	.;.;.;.;.;TSC2_HUMAN	C	901;901;901;864;852;901	ENSP00000219476:R901C;ENSP00000384468:R901C;ENSP00000248099:R901C;ENSP00000399232:R864C;ENSP00000371978:R852C;ENSP00000344383:R901C	ENSP00000219476:R901C	R	+	1	0	TSC2	2066131	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	2.983000	0.49345	2.367000	0.80283	0.561000	0.74099	CGC		0.567	TSC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250657.2	NM_000548		34	58	0	0	0	0.840704	0	34	58					T	2126130	C	T	2126130	3	4	207	1	0	0	0	0	1	0	0	0	16603	652	23	2	2791	2	TSC2	16	2126130	Missense_Mutation	SNP	C	TCGA-HC-7231-01A-11D-2114-08		2126130	88228623	42	9551											
AMDHD2	51005	broad.mit.edu	37	chr16	2579489	2579489	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtcccagacttcgtggtgctCgacgactcccttcacgtcca	6	10	9	16	4	1	1	1	0	0	1	6	3	4	1	3	1	1	1	3	1	0	2			TCGA-HC-7231-01A-11D-2114-08	TCGA-HC-7231-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d995ea6-3c34-4bbb-a828-25f95800d404	b981708f-4f68-41ff-9f80-20bb1d64d4fc	g.chr16:2579489C>T	ENST00000293971.6	+	11	1249	c.1155C>T	c.(1153-1155)ctC>ctT	p.L385L	MIR3178_ENST00000581887.1_RNA|AMDHD2_ENST00000302956.4_Silent_p.L415L|AMDHD2_ENST00000565570.1_Intron|CEMP1_ENST00000382350.1_Intron|AMDHD2_ENST00000413459.3_Silent_p.L415L	NM_015944.3	NP_057028.2	Q9Y303	NAGA_HUMAN	amidohydrolase domain containing 2	385					carbohydrate metabolic process (GO:0005975)|N-acetylglucosamine metabolic process (GO:0006044)|N-acetylneuraminate catabolic process (GO:0019262)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|N-acetylglucosamine-6-phosphate deacetylase activity (GO:0008448)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(3)|skin(2)|urinary_tract(2)	19						TCGTGGTGCTCGACGACTCCC	0.657																																						ENST00000302956.4																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(3)|skin(2)|urinary_tract(2)	19						c.(1243-1245)ctC>ctT		amidohydrolase domain containing 2							129	103	112					16																	2579489		2198	4300	6498	SO:0001819	synonymous_variant	51005				N-acetylglucosamine metabolic process		N-acetylglucosamine-6-phosphate deacetylase activity	g.chr16:2579489C>T	AF132948	CCDS10471.1, CCDS53984.1	16p13.3	2008-02-05			ENSG00000162066	ENSG00000162066			24262	protein-coding gene	gene with protein product						10810093	Standard	NM_001145815		Approved	CGI-14	uc010uwc.2	Q9Y303	OTTHUMG00000128866	ENST00000293971.6:c.1155C>T	16.37:g.2579489C>T						AMDHD2_ENST00000293971.6_Silent_p.L385L|AMDHD2_ENST00000565570.1_Intron|AMDHD2_ENST00000413459.3_Silent_p.L415L|CEMP1_ENST00000382350.1_Intron	p.L415L			Q9Y303	NAGA_HUMAN			10	1339	+			385					B4DL77|Q8WV54	Silent	SNP	ENST00000293971.6	37	c.1245C>T																																																																																					0.657	AMDHD2-004	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000435652.1	NM_015944		59	122	0	0	0	0.870114	0	59	122					T	2579489	C	T	2579489	2	4	207	1	0	0	0	0	0	0	0	1	568	871	31	2		2	AMDHD2	16	2579489	Silent	SNP	C	TCGA-HC-7231-01A-11D-2114-08	453359	2579489	87775264	43	9552											
CPPED1	55313	broad.mit.edu	37	chr16	12798661	12798661	+	Nonsense_Mutation	SNP	G	G	A																															cagccactggtcctgagcctGcttcaggctggggcatttgg																								rs202146873		TCGA-HC-7231-01A-11D-2114-08	TCGA-HC-7231-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d995ea6-3c34-4bbb-a828-25f95800d404	b981708f-4f68-41ff-9f80-20bb1d64d4fc	g.chr16:12798661G>A	ENST00000381774.4	-	3	775	c.535C>T	c.(535-537)Cag>Tag	p.Q179*	CPPED1_ENST00000433677.2_Intron|CPPED1_ENST00000261660.4_Intron	NM_018340.2	NP_060810.2	Q9BRF8	CPPED_HUMAN	calcineurin-like phosphoesterase domain containing 1	179	Catalytic.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	metal ion binding (GO:0046872)|phosphoprotein phosphatase activity (GO:0004721)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|skin(1)|urinary_tract(1)	18						TCCTGAGCCTGCTTCAGGCTG	0.612																																						ENST00000381774.4																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|skin(1)|urinary_tract(1)	18						c.(535-537)Cag>Tag		calcineurin-like phosphoesterase domain containing 1		G	,stop/GLN	1,4113		0,1,2056	58	62	61		,535	4.3	1	16		61	1,8419		0,1,4209	yes	intron,stop-gained	CPPED1	NM_001099455.1,NM_018340.2	,	0,2,6265	AA,AG,GG		0.0119,0.0243,0.016	,	,179/315	12798661	2,12532	2057	4210	6267	SO:0001587	stop_gained	55313						hydrolase activity|metal ion binding	g.chr16:12798661G>A	AK022710	CCDS42119.1, CCDS42120.1	16p13.12	2014-02-12	2009-03-13		ENSG00000103381	ENSG00000103381			25632	protein-coding gene	gene with protein product	"complete S transactivated protein 1"	615603				12477932	Standard	NM_018340		Approved	CSTP1, FLJ11151	uc002dca.4	Q9BRF8	OTTHUMG00000167711	ENST00000381774.4:c.535C>T	16.37:g.12798661G>A	ENSP00000371193:p.Gln179*					CPPED1_ENST00000261660.4_Intron|CPPED1_ENST00000433677.2_Intron	p.Q179*	NM_018340.2	NP_060810.2	Q9BRF8	CPPED_HUMAN			3	775	-			179					B4DQ68|Q6MZY9|Q9H9M9|Q9NUT6	Nonsense_Mutation	SNP	ENST00000381774.4	37	c.535C>T	CCDS42120.1	.	.	.	.	.	.	.	.	.	.	G	32	5.147224	0.94603	2.43E-4	1.19E-4	ENSG00000103381	ENST00000381774	.	.	.	5.32	4.35	0.52113	.	0.280889	0.39834	N	0.001253	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.14252	T	0.57	-13.9025	12.3926	0.55366	0.0:0.3256:0.6744:0.0	.	.	.	.	X	179	.	ENSP00000371193:Q179X	Q	-	1	0	CPPED1	12706162	1.000000	0.71417	1.000000	0.80357	0.286000	0.27126	3.042000	0.49815	1.218000	0.43458	0.650000	0.86243	CAG		0.612	CPPED1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395795.2	NM_018340		21	55	0	0	0	0.624587	0	21	55					A	12798661	G	A	12798661	4	1	207	1	0	0	0	0	0	1	0	0	3822	1328	46	3	417	3	CPPED1	16	12798661	Nonsense_Mutation	SNP	G	TCGA-HC-7231-01A-11D-2114-08	10219172	12798661	77556092	44	9553	50	2									
CPPED1	55313	broad.mit.edu	37	chr16	12798662	12798662	+	Missense_Mutation	SNP	C	C	A																															agccactggtcctgagcctgCttcaggctggggcatttgga																										TCGA-HC-7231-01A-11D-2114-08	TCGA-HC-7231-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d995ea6-3c34-4bbb-a828-25f95800d404	b981708f-4f68-41ff-9f80-20bb1d64d4fc	g.chr16:12798662C>A	ENST00000381774.4	-	3	774	c.534G>T	c.(532-534)aaG>aaT	p.K178N	CPPED1_ENST00000433677.2_Intron|CPPED1_ENST00000261660.4_Intron	NM_018340.2	NP_060810.2	Q9BRF8	CPPED_HUMAN	calcineurin-like phosphoesterase domain containing 1	178	Catalytic.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	metal ion binding (GO:0046872)|phosphoprotein phosphatase activity (GO:0004721)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|skin(1)|urinary_tract(1)	18						CCTGAGCCTGCTTCAGGCTGG	0.612																																						ENST00000381774.4																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|skin(1)|urinary_tract(1)	18						c.(532-534)aaG>aaT		calcineurin-like phosphoesterase domain containing 1							58	62	61					16																	12798662		2056	4210	6266	SO:0001583	missense	55313						hydrolase activity|metal ion binding	g.chr16:12798662C>A	AK022710	CCDS42119.1, CCDS42120.1	16p13.12	2014-02-12	2009-03-13		ENSG00000103381	ENSG00000103381			25632	protein-coding gene	gene with protein product	"complete S transactivated protein 1"	615603				12477932	Standard	NM_018340		Approved	CSTP1, FLJ11151	uc002dca.4	Q9BRF8	OTTHUMG00000167711	ENST00000381774.4:c.534G>T	16.37:g.12798662C>A	ENSP00000371193:p.Lys178Asn					CPPED1_ENST00000261660.4_Intron|CPPED1_ENST00000433677.2_Intron	p.K178N	NM_018340.2	NP_060810.2	Q9BRF8	CPPED_HUMAN			3	774	-			178					B4DQ68|Q6MZY9|Q9H9M9|Q9NUT6	Missense_Mutation	SNP	ENST00000381774.4	37	c.534G>T	CCDS42120.1	.	.	.	.	.	.	.	.	.	.	C	13.93	2.385126	0.42308	.	.	ENSG00000103381	ENST00000381774	T	0.69306	-0.39	5.32	3.16	0.36331	Metallophosphoesterase domain (1);	0.181806	0.56097	D	0.000021	T	0.73885	0.3644	M	0.83953	2.67	0.80722	D	1	P	0.50819	0.939	P	0.58620	0.842	T	0.71241	-0.4651	10	0.22109	T	0.4	-28.1016	4.7944	0.13265	0.0:0.6261:0.0:0.3739	.	178	Q9BRF8	CPPED_HUMAN	N	178	ENSP00000371193:K178N	ENSP00000371193:K178N	K	-	3	2	CPPED1	12706163	1.000000	0.71417	1.000000	0.80357	0.263000	0.26337	2.343000	0.44001	1.249000	0.43950	-0.142000	0.14014	AAG		0.612	CPPED1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395795.2	NM_018340		20	55	1	0	1.50039e-11	0.608945	1.85204e-11	20	55					A	12798662	C	A	12798662	3	1	207	1	0	0	0	0	1	0	0	0	3822	796	28	5	418	5	CPPED1	16	12798662	Missense_Mutation	SNP	C	TCGA-HC-7231-01A-11D-2114-08	1	12798662	77556091	45	9554	50	2									
SULT1A1	6817	broad.mit.edu	37	chr16	28631396	28631396	+	5'UTR	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tgtcttaccatataggtgttCcagaatttctgtttcaggtc	8	17	8	8	0	3	1	1	0	2	1	5	1	4	1	2	2	1	2	2	2	4	6			TCGA-HC-7231-01A-11D-2114-08	TCGA-HC-7231-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d995ea6-3c34-4bbb-a828-25f95800d404	b981708f-4f68-41ff-9f80-20bb1d64d4fc	g.chr16:28631396C>T	ENST00000395609.1	-	0	481				SULT1A1_ENST00000350842.4_Nonsense_Mutation_p.W42*			P50225	ST1A1_HUMAN	sulfotransferase family, cytosolic, 1A, phenol-preferring, member 1						3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|amine metabolic process (GO:0009308)|catecholamine metabolic process (GO:0006584)|estrogen metabolic process (GO:0008210)|flavonoid metabolic process (GO:0009812)|small molecule metabolic process (GO:0044281)|sulfation (GO:0051923)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	aryl sulfotransferase activity (GO:0004062)|flavonol 3-sulfotransferase activity (GO:0047894)|steroid sulfotransferase activity (GO:0050294)|sulfotransferase activity (GO:0008146)			endometrium(2)|kidney(7)|large_intestine(2)|lung(2)|ovary(1)|stomach(2)	16					Acetaminophen(DB00316)|Tamoxifen(DB00675)	TATAGGTGTTCCAGAATTTCT	0.328																																						ENST00000350842.4																			0				endometrium(2)|kidney(7)|large_intestine(2)|lung(2)|ovary(1)|stomach(2)	16						c.(124-126)tgG>tgA		sulfotransferase family, cytosolic, 1A, phenol-preferring, member 1							107	104	105					16																	28631396		2197	4300	6497	SO:0001623	5_prime_UTR_variant	6817				3'-phosphoadenosine 5'-phosphosulfate metabolic process|catecholamine metabolic process|flavonoid metabolic process|steroid metabolic process|sulfation|xenobiotic metabolic process	cytosol	aryl sulfotransferase activity|flavonol 3-sulfotransferase activity	g.chr16:28631396C>T	U52852	CCDS10637.1, CCDS32420.1	16p12.1	2008-02-05			ENSG00000196502	ENSG00000196502	2.8.2.1	"Sulfotransferases, cytosolic"	11453	protein-coding gene	gene with protein product		171150		STP, STP1		8288252, 8912648	Standard	NM_177534		Approved	P-PST	uc002dqj.3	P50225	OTTHUMG00000131765	ENST00000395609.1:c.-278G>A	16.37:g.28631396C>T						SULT1A1_ENST00000395609.1_5'UTR	p.W42*	NM_177536.3	NP_803880.1	P50225	ST1A1_HUMAN			2	514	-			0					Q2NL71|Q86U58|Q92818|Q9BVU6|Q9UGG7	Nonsense_Mutation	SNP	ENST00000395609.1	37	c.126G>A	CCDS32420.1	.	.	.	.	.	.	.	.	.	.	c	16.11	3.030445	0.54790	.	.	ENSG00000196502	ENST00000350842	.	.	.	1.01	1.01	0.19927	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.20519	T	0.43	.	5.4053	0.16318	0.0:1.0:0.0:0.0	.	.	.	.	X	42	.	ENSP00000329399:W42X	W	-	3	0	SULT1A1	28538897	1.000000	0.71417	0.937000	0.37676	0.418000	0.31294	1.341000	0.33907	0.511000	0.28236	0.089000	0.15464	TGG		0.328	SULT1A1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001055		4	48	0	0	0	0.217242	0	4	48					T	28631396	C	T	28631396	1	4	207	0	1	0	0	0	0	0	0	0	15371	856	30	3		3	SULT1A1	16	28631396	5'UTR	SNP	C	TCGA-HC-7231-01A-11D-2114-08	15832734	28631396	61723357	46	9555											
FOXC2	2303	broad.mit.edu	37	chr16	86602380	86602380	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	caatgccagctgccagctgcCctacagatccacgccgcctc	8	6	8	19	2	0	1	0	0	0	1	2	1	1	1	6	0	6	2	6	0	2	1			TCGA-HC-7231-01A-11D-2114-08	TCGA-HC-7231-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d995ea6-3c34-4bbb-a828-25f95800d404	b981708f-4f68-41ff-9f80-20bb1d64d4fc	g.chr16:86602380C>G	ENST00000320354.4	+	1	1524	c.1439C>G	c.(1438-1440)cCc>cGc	p.P480R	RP11-463O9.5_ENST00000563280.1_RNA	NM_005251.2	NP_005242.1	Q99958	FOXC2_HUMAN	forkhead box C2 (MFH-1, mesenchyme forkhead 1)	480					artery morphogenesis (GO:0048844)|blood vessel remodeling (GO:0001974)|camera-type eye development (GO:0043010)|cardiac muscle cell proliferation (GO:0060038)|collagen fibril organization (GO:0030199)|embryonic heart tube development (GO:0035050)|embryonic viscerocranium morphogenesis (GO:0048703)|glomerular endothelium development (GO:0072011)|glomerular mesangial cell development (GO:0072144)|glomerular visceral epithelial cell differentiation (GO:0072112)|heart development (GO:0007507)|insulin receptor signaling pathway (GO:0008286)|lymphangiogenesis (GO:0001946)|mesoderm development (GO:0007498)|metanephros development (GO:0001656)|negative regulation of apoptotic process involved in outflow tract morphogenesis (GO:1902257)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural crest cell development (GO:0014032)|Notch signaling pathway (GO:0007219)|ossification (GO:0001503)|paraxial mesodermal cell fate commitment (GO:0048343)|patterning of blood vessels (GO:0001569)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cell migration involved in sprouting angiogenesis (GO:0090050)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of vascular wound healing (GO:0035470)|regulation of blood vessel size (GO:0050880)|regulation of organ growth (GO:0046620)|response to hormone (GO:0009725)|somitogenesis (GO:0001756)|ureteric bud development (GO:0001657)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	15						TGCCAGCTGCCCTACAGATCC	0.647									Late-onset Hereditary Lymphedema																													ENST00000320354.4																			0				breast(1)|cervix(1)|endometrium(2)|kidney(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	15						c.(1438-1440)cCc>cGc		forkhead box C2 (MFH-1, mesenchyme forkhead 1)							32	30	31					16																	86602380		2175	4264	6439	SO:0001583	missense	2303	Late-onset Hereditary Lymphedema	Familial Cancer Database	Hereditary Lymphedema type II, Meige Lymphedema	anti-apoptosis|artery morphogenesis|blood vessel remodeling|camera-type eye development|cardiac muscle cell proliferation|collagen fibril organization|embryonic heart tube development|embryonic viscerocranium morphogenesis|insulin receptor signaling pathway|lymphangiogenesis|metanephros development|negative regulation of transcription from RNA polymerase II promoter|neural crest cell fate commitment|Notch signaling pathway|ossification|paraxial mesodermal cell fate commitment|patterning of blood vessels|positive regulation of cell adhesion mediated by integrin|positive regulation of cell migration involved in sprouting angiogenesis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of vascular wound healing|regulation of blood vessel size|regulation of organ growth|regulation of sequence-specific DNA binding transcription factor activity|somitogenesis|ureteric bud development|vascular endothelial growth factor receptor signaling pathway|vasculogenesis|ventricular cardiac muscle tissue morphogenesis	transcription factor complex	chromatin DNA binding|DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding|transcription regulatory region DNA binding	g.chr16:86602380C>G	Y08223	CCDS10958.1	16q24.1	2008-04-10			ENSG00000176692	ENSG00000176692		"Forkhead boxes"	3801	protein-coding gene	gene with protein product		602402		FKHL14		9169153, 8674414	Standard	NM_005251		Approved	MFH-1	uc002fjq.3	Q99958	OTTHUMG00000137652	ENST00000320354.4:c.1439C>G	16.37:g.86602380C>G	ENSP00000326371:p.Pro480Arg						p.P480R	NM_005251.2	NP_005242.1	Q99958	FOXC2_HUMAN			1	1524	+			480					C6KMR9|Q14DA6	Missense_Mutation	SNP	ENST00000320354.4	37	c.1439C>G	CCDS10958.1	.	.	.	.	.	.	.	.	.	.	C	14.29	2.491736	0.44249	.	.	ENSG00000176692	ENST00000320354	T	0.76060	-0.99	4.35	4.35	0.52113	.	1.847060	0.03063	U	0.156132	T	0.77922	0.4203	L	0.27053	0.805	0.52501	D	0.999959	D	0.59357	0.985	P	0.53360	0.724	T	0.67492	-0.5657	10	0.72032	D	0.01	.	15.5954	0.76574	0.0:1.0:0.0:0.0	.	480	Q99958	FOXC2_HUMAN	R	480	ENSP00000326371:P480R	ENSP00000326371:P480R	P	+	2	0	FOXC2	85159881	1.000000	0.71417	0.998000	0.56505	0.135000	0.20990	5.216000	0.65246	2.223000	0.72356	0.462000	0.41574	CCC		0.647	FOXC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269104.2	NM_005251		3	82	0	0	0	0.150653	0	3	82					G	86602380	C	G	86602380	3	3	207	1	0	0	0	0	1	0	0	0	5995	623	22	5	1441	5	FOXC2	16	86602380	Missense_Mutation	SNP	C	TCGA-HC-7231-01A-11D-2114-08	57970984	86602380	3752373	47	9556											
MYH8	4626	broad.mit.edu	37	chr17	10296220	10296220	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcggcctcatctagacgatgCtgcaggtccttcaccgtctg	6	11	10	14	3	4	1	2	0	2	1	6	2	5	1	3	2	2	2	3	2	1	2			TCGA-HC-7231-01A-11D-2114-08	TCGA-HC-7231-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d995ea6-3c34-4bbb-a828-25f95800d404	b981708f-4f68-41ff-9f80-20bb1d64d4fc	g.chr17:10296220C>T	ENST00000403437.2	-	37	5485	c.5391G>A	c.(5389-5391)caG>caA	p.Q1797Q	RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA|CTC-297N7.11_ENST00000587182.2_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	1797					ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|skeletal muscle contraction (GO:0003009)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|myosin light chain binding (GO:0032027)|structural constituent of muscle (GO:0008307)			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						CTAGACGATGCTGCAGGTCCT	0.577									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling																													ENST00000403437.2																			0				NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						c.(5389-5391)caG>caA		myosin, heavy chain 8, skeletal muscle, perinatal							131	130	131					17																	10296220		2203	4300	6503	SO:0001819	synonymous_variant	4626	Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling	Familial Cancer Database	Carney Complex Variant	muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle	g.chr17:10296220C>T		CCDS11153.1	17p13.1	2013-09-19	2006-09-29		ENSG00000133020	ENSG00000133020		"Myosins / Myosin superfamily : Class II"	7578	protein-coding gene	gene with protein product		160741	"myosin, heavy polypeptide 8, skeletal muscle, perinatal"			2373371	Standard	NM_002472		Approved	MyHC-peri, MyHC-pn	uc002gmm.2	P13535	OTTHUMG00000130361	ENST00000403437.2:c.5391G>A	17.37:g.10296220C>T						CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA	p.Q1797Q	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN			37	5485	-			1797					Q14910	Silent	SNP	ENST00000403437.2	37	c.5391G>A	CCDS11153.1																																																																																				0.577	MYH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252724.2	NM_002472		8	131	0	0	0	0.307466	0	8	131					T	10296220	C	T	10296220	2	4	207	1	0	0	0	0	0	0	0	1	10041	796	28	3		3	MYH8	17	10296220	Silent	SNP	C	TCGA-HC-7231-01A-11D-2114-08		10296220	70898990	48	9557											
MYH4	4622	broad.mit.edu	37	chr17	10357986	10357986	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcttctttggttttctcaaaTtcttccttcatgttggccat	5	21	5	10	0	5	0	2	0	4	0	7	0	6	0	2	2	0	2	2	2	1	8			TCGA-HC-7231-01A-11D-2114-08	TCGA-HC-7231-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d995ea6-3c34-4bbb-a828-25f95800d404	b981708f-4f68-41ff-9f80-20bb1d64d4fc	g.chr17:10357986T>G	ENST00000255381.2	-	22	2687	c.2577A>C	c.(2575-2577)gaA>gaC	p.E859D	RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA|CTC-297N7.11_ENST00000587182.2_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	859					actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|membrane organization (GO:0061024)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|response to activity (GO:0014823)	muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|microfilament motor activity (GO:0000146)			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						TTTTCTCAAATTCTTCCTTCA	0.433																																						ENST00000255381.2																			0				NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						c.(2575-2577)gaA>gaC		myosin, heavy chain 4, skeletal muscle							205	179	187					17																	10357986		2203	4300	6503	SO:0001583	missense	4622				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr17:10357986T>G		CCDS11154.1	17p13.1	2013-09-19	2006-09-29		ENSG00000264424	ENSG00000264424		"Myosins / Myosin superfamily : Class II"	7574	protein-coding gene	gene with protein product		160742	"myosin, heavy polypeptide 4, skeletal muscle"			8518795	Standard	NM_017533		Approved	MYH2B, MyHC-2B, MyHC-IIb	uc002gmn.3	Q9Y623	OTTHUMG00000130365	ENST00000255381.2:c.2577A>C	17.37:g.10357986T>G	ENSP00000255381:p.Glu859Asp					CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA	p.E859D	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN			22	2687	-			859						Missense_Mutation	SNP	ENST00000255381.2	37	c.2577A>C	CCDS11154.1	.	.	.	.	.	.	.	.	.	.	T	10.78	1.447361	0.25987	.	.	ENSG00000141048	ENST00000255381	D	0.85258	-1.96	5.17	-10.3	0.00346	.	0.191444	0.24438	N	0.038524	T	0.71048	0.3294	L	0.55213	1.73	0.30149	N	0.803252	B	0.09022	0.002	B	0.12837	0.008	T	0.49234	-0.8961	10	0.48119	T	0.1	.	3.053	0.06175	0.3477:0.3733:0.1665:0.1125	.	859	Q9Y623	MYH4_HUMAN	D	859	ENSP00000255381:E859D	ENSP00000255381:E859D	E	-	3	2	MYH4	10298711	0.000000	0.05858	0.619000	0.29118	0.603000	0.37013	-4.714000	0.00195	-2.650000	0.00424	-1.645000	0.00762	GAA		0.433	MYH4-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252731.1	NM_017533		4	102	0	0	0	0.217242	0	4	102					G	10357986	T	G	10357986	3	3	207	1	0	0	0	0	1	0	0	0	10037	1490	52	5	3318	5	MYH4	17	10357986	Missense_Mutation	SNP	T	TCGA-HC-7231-01A-11D-2114-08	61766	10357986	70837224	49	9558											
UNC45B	146862	broad.mit.edu	37	chr17	33495343	33495343	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gctcaaacagatctacaagaCcaccaaaaatgagaagatca	20	5	6	10	0	3	4	2	1	1	4	3	5	3	4	2	0	2	1	2	0	6	1			TCGA-HC-7231-01A-11D-2114-08	TCGA-HC-7231-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d995ea6-3c34-4bbb-a828-25f95800d404	b981708f-4f68-41ff-9f80-20bb1d64d4fc	g.chr17:33495343C>A	ENST00000268876.5	+	10	1512	c.1415C>A	c.(1414-1416)aCc>aAc	p.T472N	UNC45B_ENST00000378449.1_Missense_Mutation_p.T472N|UNC45B_ENST00000394570.2_Missense_Mutation_p.T472N|RP11-799D4.3_ENST00000585646.1_RNA|UNC45B_ENST00000433649.1_Missense_Mutation_p.T472N|UNC45B_ENST00000591048.1_Missense_Mutation_p.T472N	NM_173167.2	NP_775259.1	Q8IWX7	UN45B_HUMAN	unc-45 homolog B (C. elegans)	472					cell differentiation (GO:0030154)|chaperone-mediated protein folding (GO:0061077)|muscle organ development (GO:0007517)	cytoplasm (GO:0005737)|cytosol (GO:0005829)				breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(10)|lung(24)|ovary(3)|prostate(2)|skin(1)|stomach(1)|urinary_tract(3)	59		Ovarian(249;0.17)				ATCTACAAGACCACCAAAAAT	0.567																																						ENST00000268876.5																			0				breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(10)|lung(24)|ovary(3)|prostate(2)|skin(1)|stomach(1)|urinary_tract(3)	59						c.(1414-1416)aCc>aAc		unc-45 homolog B (C. elegans)							108	87	94					17																	33495343		2203	4300	6503	SO:0001583	missense	146862				cell differentiation|muscle organ development	cytosol	binding	g.chr17:33495343C>A	AW755253	CCDS11292.1, CCDS45648.1	17q12	2008-02-05	2005-11-17	2005-11-17	ENSG00000141161	ENSG00000141161			14304	protein-coding gene	gene with protein product		611220	"cardiomyopathy associated 4"	CMYA4		12356907	Standard	NM_001267052		Approved	UNC45	uc002hja.3	Q8IWX7	OTTHUMG00000132931	ENST00000268876.5:c.1415C>A	17.37:g.33495343C>A	ENSP00000268876:p.Thr472Asn					UNC45B_ENST00000378449.1_Missense_Mutation_p.T472N|UNC45B_ENST00000433649.1_Missense_Mutation_p.T472N|UNC45B_ENST00000394570.2_Missense_Mutation_p.T472N|UNC45B_ENST00000591048.1_Missense_Mutation_p.T472N	p.T472N	NM_173167.2	NP_775259.1	Q8IWX7	UN45B_HUMAN			10	1512	+		Ovarian(249;0.17)	472					Q495Q8|Q495Q9	Missense_Mutation	SNP	ENST00000268876.5	37	c.1415C>A	CCDS11292.1	.	.	.	.	.	.	.	.	.	.	C	13.69	2.312794	0.40895	.	.	ENSG00000141161	ENST00000394570;ENST00000268876;ENST00000433649;ENST00000378449	T;T;T;T	0.64438	1.03;3.69;1.03;-0.1	5.02	5.02	0.67125	Armadillo-like helical (1);Armadillo-type fold (1);	0.046141	0.85682	D	0.000000	T	0.37265	0.0997	N	0.03608	-0.345	0.23743	N	0.996966	B;B;B	0.22080	0.064;0.056;0.001	B;B;B	0.28305	0.088;0.066;0.009	T	0.17930	-1.0353	10	0.15952	T	0.53	-37.4787	11.3634	0.49657	0.2766:0.7234:0.0:0.0	.	472;472;472	Q8IWX7-2;Q8IWX7-3;Q8IWX7	.;.;UN45B_HUMAN	N	472	ENSP00000378071:T472N;ENSP00000268876:T472N;ENSP00000412840:T472N;ENSP00000367710:T472N	ENSP00000268876:T472N	T	+	2	0	UNC45B	30519456	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.471000	0.66762	2.767000	0.95098	0.655000	0.94253	ACC		0.567	UNC45B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256458.2	NM_173167		5	68	1	0	0.00116845	0.217242	0.00131867	5	68					A	33495343	C	A	33495343	3	1	207	1	0	0	0	0	1	0	0	0	16986	507	18	5	1449	5	UNC45B	17	33495343	Missense_Mutation	SNP	C	TCGA-HC-7231-01A-11D-2114-08	23137357	33495343	47699867	50	9559											
HLF	3131	broad.mit.edu	37	chr17	53392674	53392674	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgggttatgagccagacccaGcagatcttgccctttccagc	8	10	10	13	0	1	3	0	1	1	2	2	3	2	3	4	1	4	2	4	1	1	3			TCGA-HC-7231-01A-11D-2114-08	TCGA-HC-7231-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d995ea6-3c34-4bbb-a828-25f95800d404	b981708f-4f68-41ff-9f80-20bb1d64d4fc	g.chr17:53392674G>C	ENST00000226067.5	+	3	1011	c.538G>C	c.(538-540)Gca>Cca	p.A180P	HLF_ENST00000575345.1_Missense_Mutation_p.A95P|HLF_ENST00000573945.1_Missense_Mutation_p.A95P|HLF_ENST00000430986.2_Missense_Mutation_p.A95P	NM_002126.4	NP_002117.1	Q16534	HLF_HUMAN	hepatic leukemia factor	180	Pro-rich (proline/acidic region (PAR)).				multicellular organismal development (GO:0007275)|rhythmic process (GO:0048511)|skeletal muscle cell differentiation (GO:0035914)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			large_intestine(1)|ovary(2)	3						GCCAGACCCAGCAGATCTTGC	0.527			T	TCF3	ALL																																	ENST00000226067.5				Dom	yes		17	17q22	3131	T	hepatic leukemia factor			L	TCF3		ALL		0				large_intestine(1)|ovary(2)	3						c.(538-540)Gca>Cca		hepatic leukemia factor							119	106	110					17																	53392674		2203	4300	6503	SO:0001583	missense	3131				multicellular organismal development|rhythmic process|transcription from RNA polymerase II promoter	nucleus	double-stranded DNA binding|protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr17:53392674G>C		CCDS11585.1	17q22	2011-05-19			ENSG00000108924	ENSG00000108924			4977	protein-coding gene	gene with protein product		142385				1386162	Standard	XM_005257269		Approved	MGC33822	uc002iug.1	Q16534		ENST00000226067.5:c.538G>C	17.37:g.53392674G>C	ENSP00000226067:p.Ala180Pro					HLF_ENST00000430986.2_Missense_Mutation_p.A95P|HLF_ENST00000575345.1_Missense_Mutation_p.A95P|HLF_ENST00000573945.1_Missense_Mutation_p.A95P	p.A180P	NM_002126.4	NP_002117.1	Q16534	HLF_HUMAN			3	1011	+			180			Pro-rich (proline/acidic region (PAR)).		A8K1X8|Q6FHS9	Missense_Mutation	SNP	ENST00000226067.5	37	c.538G>C	CCDS11585.1	.	.	.	.	.	.	.	.	.	.	G	27.3	4.819165	0.90873	.	.	ENSG00000108924	ENST00000226067;ENST00000430986	.	.	.	5.6	5.6	0.85130	.	0.000000	0.85682	D	0.000000	T	0.80127	0.4566	M	0.79926	2.475	0.80722	D	1	B;D	0.89917	0.204;1.0	B;D	0.69307	0.099;0.963	T	0.79897	-0.1609	9	0.44086	T	0.13	.	18.6178	0.91310	0.0:0.0:1.0:0.0	.	128;180	B4DIQ5;Q16534	.;HLF_HUMAN	P	180;95	.	ENSP00000226067:A180P	A	+	1	0	HLF	50747673	1.000000	0.71417	0.959000	0.39883	0.948000	0.59901	4.767000	0.62286	2.644000	0.89710	0.655000	0.94253	GCA		0.527	HLF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439185.1	NM_002126		27	78	0	0	0	0.740014	0	27	78					C	53392674	G	C	53392674	3	2	207	1	0	0	0	0	1	0	0	0	7214	971	34	5	548	5	HLF	17	53392674	Missense_Mutation	SNP	G	TCGA-HC-7231-01A-11D-2114-08	19897331	53392674	27802536	51	9560											
FOXK2	3607	broad.mit.edu	37	chr17	80521333	80521333	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgagtctccagtgaaggccGtacagccacacatctcgccc	9	7	9	16	2	2	2	0	2	2	0	4	2	2	2	4	1	2	1	4	1	2	1			TCGA-HC-7231-01A-11D-2114-08	TCGA-HC-7231-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d995ea6-3c34-4bbb-a828-25f95800d404	b981708f-4f68-41ff-9f80-20bb1d64d4fc	g.chr17:80521333G>A	ENST00000335255.5	+	2	697	c.523G>A	c.(523-525)Gta>Ata	p.V175I		NM_004514.3	NP_004505.2	Q01167	FOXK2_HUMAN	forkhead box K2	175					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)	intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	magnesium ion binding (GO:0000287)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|urinary_tract(1)	17	Breast(20;0.00106)|all_neural(118;0.0952)		OV - Ovarian serous cystadenocarcinoma(97;0.0371)|BRCA - Breast invasive adenocarcinoma(99;0.0415)			AGTGAAGGCCGTACAGCCACA	0.582																																						ENST00000335255.5																			0				NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|urinary_tract(1)	17						c.(523-525)Gta>Ata		forkhead box K2							155	100	119					17																	80521333		2203	4300	6503	SO:0001583	missense	3607				embryo development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|magnesium ion binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chr17:80521333G>A	U58196	CCDS11813.1	17q25	2006-12-15	2004-03-09	2004-03-10	ENSG00000141568	ENSG00000141568		"Forkhead boxes"	6036	protein-coding gene	gene with protein product		147685	"interleukin enhancer binding factor 1"	ILF, ILF1		3260003	Standard	NM_004514		Approved		uc002kfn.3	Q01167	OTTHUMG00000140374	ENST00000335255.5:c.523G>A	17.37:g.80521333G>A	ENSP00000335677:p.Val175Ile						p.V175I	NM_004514.3	NP_004505.2	Q01167	FOXK2_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0371)|BRCA - Breast invasive adenocarcinoma(99;0.0415)		2	697	+	Breast(20;0.00106)|all_neural(118;0.0952)		175					A6NEP5|Q13622|Q13623|Q13624	Missense_Mutation	SNP	ENST00000335255.5	37	c.523G>A	CCDS11813.1	.	.	.	.	.	.	.	.	.	.	G	18.95	3.730801	0.69074	.	.	ENSG00000141568	ENST00000535184;ENST00000335255;ENST00000335241;ENST00000526383	D;D	0.95001	-3.24;-3.58	5.85	5.85	0.93711	.	0.000000	0.85682	D	0.000000	D	0.94571	0.8251	L	0.47716	1.5	0.50467	D	0.999871	P;D;D	0.63046	0.744;0.977;0.992	B;P;P	0.51324	0.179;0.465;0.666	D	0.93190	0.6582	10	0.34782	T	0.22	.	20.1577	0.98120	0.0:0.0:1.0:0.0	.	175;175;175	Q01167-3;Q01167;Q01167-2	.;FOXK2_HUMAN;.	I	171;175;175;55	ENSP00000335677:V175I;ENSP00000432663:V55I	ENSP00000334321:V175I	V	+	1	0	FOXK2	78114622	1.000000	0.71417	0.999000	0.59377	0.608000	0.37181	7.429000	0.80309	2.767000	0.95098	0.655000	0.94253	GTA		0.582	FOXK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277099.2	NM_181430		19	47	0	0	0	0.608945	0	19	47					A	80521333	G	A	80521333	3	1	207	1	0	0	0	0	1	0	0	0	6015	1145	40	1	529	1	FOXK2	17	80521333	Missense_Mutation	SNP	G	TCGA-HC-7231-01A-11D-2114-08	27128659	80521333	673877	52	9561											
TCEB3B	51224	broad.mit.edu	37	chr18	44561616	44561616	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcttctccactgcgtgcagcGtagtggaccctgccgccatc	5	9	11	16	3	1	0	0	0	1	0	3	1	1	1	4	1	4	3	4	1	1	2	rs572647337		TCGA-HC-7231-01A-11D-2114-08	TCGA-HC-7231-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d995ea6-3c34-4bbb-a828-25f95800d404	b981708f-4f68-41ff-9f80-20bb1d64d4fc	g.chr18:44561616G>T	ENST00000332567.4	-	1	372	c.20C>A	c.(19-21)aCg>aAg	p.T7K	KATNAL2_ENST00000356157.7_Intron|KATNAL2_ENST00000592005.1_Intron|KATNAL2_ENST00000245121.5_Intron	NM_016427.2	NP_057511.2	Q8IYF1	ELOA2_HUMAN	transcription elongation factor B polypeptide 3B (elongin A2)	7	TFIIS N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00649}.				regulation of DNA-templated transcription, elongation (GO:0032784)|transcription from RNA polymerase II promoter (GO:0006366)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|lung(24)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						TGCGTGCAGCGTAGTGGACCC	0.612																																						ENST00000332567.4																			0				breast(1)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|lung(24)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						c.(19-21)aCg>aAg		transcription elongation factor B polypeptide 3B (elongin A2)							49	48	48					18																	44561616		2202	4300	6502	SO:0001583	missense	51224				regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter	integral to membrane|nucleus	DNA binding	g.chr18:44561616G>T	BC036022	CCDS11932.1	18q21.1	2009-08-04			ENSG00000206181	ENSG00000206181			30771	protein-coding gene	gene with protein product	"transcription elongation factor (SIII) elongin A2", "elongin A2"	609522				7660129, 8244996	Standard	NM_016427		Approved	HsT832, TCEB3L	uc002lcr.1	Q8IYF1	OTTHUMG00000132649	ENST00000332567.4:c.20C>A	18.37:g.44561616G>T	ENSP00000331302:p.Thr7Lys					KATNAL2_ENST00000245121.5_Intron|KATNAL2_ENST00000356157.7_Intron|KATNAL2_ENST00000592005.1_Intron	p.T7K	NM_016427.2	NP_057511.2	Q8IYF1	ELOA2_HUMAN			1	372	-			7			TFIIS N-terminal.		Q9P2V9	Missense_Mutation	SNP	ENST00000332567.4	37	c.20C>A	CCDS11932.1	.	.	.	.	.	.	.	.	.	.	G	13.57	2.277261	0.40294	.	.	ENSG00000206181	ENST00000332567	T	0.06687	3.27	2.35	-2.81	0.05805	Transcription factor IIS, N-terminal (3);	0.527792	0.13064	U	0.416631	T	0.07188	0.0182	N	0.22421	0.69	0.09310	N	1	D	0.59357	0.985	P	0.57679	0.825	T	0.11446	-1.0587	10	0.06625	T	0.88	-1.1467	4.6872	0.12764	0.5595:0.2127:0.2278:0.0	.	7	Q8IYF1	ELOA2_HUMAN	K	7	ENSP00000331302:T7K	ENSP00000331302:T7K	T	-	2	0	TCEB3B	42815614	0.002000	0.14202	0.000000	0.03702	0.007000	0.05969	0.328000	0.19681	-0.769000	0.04620	0.558000	0.71614	ACG		0.612	TCEB3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255900.1	NM_016427		5	60	1	0	0.00116845	0.217242	0.00131867	5	60					T	44561616	G	T	44561616	3	4	207	1	0	0	0	0	1	0	0	0	15679	1145	40	5	2245	5	TCEB3B	18	44561616	Missense_Mutation	SNP	G	TCGA-HC-7231-01A-11D-2114-08		44561616	33515632	53	9562											
NANOS3	342977	broad.mit.edu	37	chr19	13988559	13988561	+	In_Frame_Del	DEL	GAG	GAG	-																															acaggacacaggccaccgccGaggaggaggaggaggagcag																										TCGA-HC-7231-01A-11D-2114-08	TCGA-HC-7231-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d995ea6-3c34-4bbb-a828-25f95800d404	b981708f-4f68-41ff-9f80-20bb1d64d4fc	g.chr19:13988559_13988561delGAG	ENST00000397555.2	+	2	440_442	c.440_442delGAG	c.(439-444)cgagga>cga	p.G152del	NANOS3_ENST00000339133.5_In_Frame_Del_p.G171del|MIR181D_ENST00000384853.1_RNA|MIR181C_ENST00000384881.1_RNA|NANOS3_ENST00000591727.1_Intron	NM_001098622.2	NP_001092092.1	P60323	NANO3_HUMAN	nanos homolog 3 (Drosophila)	152					germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic signaling pathway (GO:2001234)|oogenesis (GO:0048477)|regulation of cell cycle (GO:0051726)|regulation of translation (GO:0006417)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytoplasmic stress granule (GO:0010494)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	RNA binding (GO:0003723)|zinc ion binding (GO:0008270)	p.G171delG(1)		breast(1)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	7			OV - Ovarian serous cystadenocarcinoma(19;2e-21)			GGCCACCGCCGAGGAGGAGGAGG	0.645																																						ENST00000397555.2																			1	Deletion - In frame(1)	p.G171delG(1)	prostate(1)	breast(1)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	7						c.(439-444)cga>c		nanos homolog 3 (Drosophila)				244,68,82,2948		50,1,2,141,16,0,35,6,68,1352						1.2	0.5		dbSNP_134	7	6,2,199,6931		1,0,0,4,0,0,2,8,183,3371	no	codingComplex	NANOS3	NM_001098622.2		51,1,2,145,16,0,37,14,251,4723	A1A1,A1A2,A1A3,A1R,A2A2,A2A3,A2R,A3A3,A3R,RR		2.9,11.7893,5.7347				250,70,281,9879				SO:0001651	inframe_deletion	342977				anti-apoptosis|germ cell development|multicellular organismal development|oogenesis|regulation of cell cycle|regulation of translation|spermatogenesis	cytoplasmic mRNA processing body|nucleus|stress granule	RNA binding|zinc ion binding	g.chr19:13988559_13988561delGAG	BM702754	CCDS42511.1	19p13.13	2003-12-01				ENSG00000187556			22048	protein-coding gene	gene with protein product		608229					Standard	NM_001098622		Approved	NANOS1L, NOS3	uc002mxj.4	P60323		ENST00000397555.2:c.440_442delGAG	19.37:g.13988568_13988570delGAG	ENSP00000380687:p.Gly152del					NANOS3_ENST00000591727.1_Intron|NANOS3_ENST00000591161.1_5'UTR|NANOS3_ENST00000339133.5_In_Frame_Del_p.RG166del	p.RG147del	NM_001098622.2	NP_001092092.1	P60323	NANO3_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;2e-21)		2	440_442	+			147					Q495E5	In_Frame_Del	DEL	ENST00000397555.2	37	c.440_442delGAG																																																																																					0.645	NANOS3-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		XM_292819		2	4						2	4	---	---	---	---	-	13988561	GAG	-	13988559	7	5	207	1	0	1	0	1	0	0	0	0	10153	1058	37	0	499	0	NANOS3	19	13988559	In_Frame_Del	DEL	GAG	TCGA-HC-7231-01A-11D-2114-08		13988559	45140424	54	9563											
NCAN	1463	broad.mit.edu	37	chr19	19337625	19337625	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cactgcagcaagttcacacaCggaggtggccccaactgacc	11	5	10	15	1	1	1	1	1	0	0	1	2	1	2	3	3	3	3	3	3	2	1			TCGA-HC-7231-01A-11D-2114-08	TCGA-HC-7231-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d995ea6-3c34-4bbb-a828-25f95800d404	b981708f-4f68-41ff-9f80-20bb1d64d4fc	g.chr19:19337625C>T	ENST00000252575.6	+	7	1502	c.1403C>T	c.(1402-1404)aCg>aTg	p.T468M	NCAN_ENST00000538881.1_5'Flank	NM_004386.2	NP_004377.2	O14594	NCAN_HUMAN	neurocan	468					axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|regulation of synapse structural plasticity (GO:0051823)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|hyaluronic acid binding (GO:0005540)			breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64			Epithelial(12;0.00544)		Hyaluronan(DB08818)	AGTTCACACACGGAGGTGGCC	0.642																																						ENST00000252575.5																			0				breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64						c.(1402-1404)aCg>aTg		neurocan							32	32	32					19																	19337625		2203	4300	6503	SO:0001583	missense	1463				axon guidance|cell adhesion	extracellular region	calcium ion binding|hyaluronic acid binding|sugar binding	g.chr19:19337625C>T	AF026547	CCDS12397.1	19p12	2014-01-30	2007-02-15	2007-02-15	ENSG00000130287	ENSG00000130287		"Immunoglobulin superfamily / V-set domain containing", "Proteoglycans / Extracellular Matrix : Hyalectans", "Endogenous ligands"	2465	protein-coding gene	gene with protein product	"neurocan proteoglycan"	600826	"chondroitin sulfate proteoglycan 3"	CSPG3		1326557, 21353194	Standard	NM_004386		Approved		uc002nlz.3	O14594		ENST00000252575.6:c.1403C>T	19.37:g.19337625C>T	ENSP00000252575:p.Thr468Met						p.T468M	NM_004386.2	NP_004377.2	O14594	NCAN_HUMAN	Epithelial(12;0.00544)		7	1446	+			468					Q9UPK6	Missense_Mutation	SNP	ENST00000252575.6	37	c.1403C>T	CCDS12397.1	.	.	.	.	.	.	.	.	.	.	C	11.30	1.598606	0.28445	.	.	ENSG00000130287	ENST00000539499;ENST00000252575	D	0.87334	-2.24	4.38	-0.438	0.12268	.	0.822875	0.10265	N	0.695438	T	0.80105	0.4562	N	0.24115	0.695	0.09310	N	1	D;P	0.54601	0.967;0.458	P;B	0.50192	0.634;0.025	T	0.68988	-0.5264	10	0.42905	T	0.14	.	4.104	0.10028	0.0:0.5245:0.173:0.3025	.	482;468	Q4LE67;O14594	.;NCAN_HUMAN	M	482;468	ENSP00000252575:T468M	ENSP00000252575:T468M	T	+	2	0	NCAN	19198625	0.102000	0.21896	0.001000	0.08648	0.006000	0.05464	0.709000	0.25734	-0.123000	0.11745	-0.339000	0.08088	ACG		0.642	NCAN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460111.2	NM_004386		10	30	0	0	0	0.38729	0	10	30					T	19337625	C	T	19337625	3	4	207	1	0	0	0	0	1	0	0	0	10204	536	19	1	1425	1	NCAN	19	19337625	Missense_Mutation	SNP	C	TCGA-HC-7231-01A-11D-2114-08	5349066	19337625	39791358	55	9564											
ZNF626	199777	broad.mit.edu	37	chr19	20807184	20807184	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctctccagtatgattctcTcatgtgtagtaaggattgag	9	16	9	7	0	3	2	1	2	2	0	6	3	4	3	1	1	0	3	1	1	3	6	rs71332197		TCGA-HC-7231-01A-11D-2114-08	TCGA-HC-7231-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d995ea6-3c34-4bbb-a828-25f95800d404	b981708f-4f68-41ff-9f80-20bb1d64d4fc	g.chr19:20807184T>C	ENST00000601440.1	-	4	1645	c.1499A>G	c.(1498-1500)gAg>gGg	p.E500G	CTC-513N18.7_ENST00000595094.1_lincRNA	NM_001076675.2	NP_001070143.1	Q68DY1	ZN626_HUMAN	zinc finger protein 626	500			E -> K (in dbSNP:rs10408597).		regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(1)|lung(3)|skin(1)	6						TATGATTCTCTCATGTGTAGT	0.398																																						ENST00000601440.1																			0				breast(1)|endometrium(1)|lung(3)|skin(1)	6						c.(1498-1500)gAg>gGg		zinc finger protein 626							53	25	34					19																	20807184		1933	3831	5764	SO:0001583	missense	199777				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:20807184T>C	BC007116	CCDS32976.1, CCDS42535.1	19p13.11	2013-01-08				ENSG00000188171		"Zinc fingers, C2H2-type", "-"	30461	protein-coding gene	gene with protein product						12477932	Standard	NM_145297		Approved		uc002npb.1	Q68DY1		ENST00000601440.1:c.1499A>G	19.37:g.20807184T>C	ENSP00000469958:p.Glu500Gly					CTC-513N18.7_ENST00000595094.1_lincRNA	p.E500G	NM_001076675.2	NP_001070143.1	Q68DY1	ZN626_HUMAN			4	1645	-			500		E -> K (in dbSNP:rs10408597).			Q8N8T4|Q96QM1	Missense_Mutation	SNP	ENST00000601440.1	37	c.1499A>G	CCDS42535.1	.	.	.	.	.	.	.	.	.	.	N	8.105	0.777547	0.16120	.	.	ENSG00000188171	ENST00000392298;ENST00000453075	.	.	.	0.832	-0.477	0.12097	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.26448	0.0646	N	0.08118	0	0.80722	D	1	B	0.09022	0.002	B	0.06405	0.002	T	0.06625	-1.0816	8	0.87932	D	0	.	3.9033	0.09171	0.0:0.6461:0.0:0.3539	.	500	Q68DY1	ZN626_HUMAN	G	500;424	.	ENSP00000376118:E500G	E	-	2	0	ZNF626	20599024	0.000000	0.05858	0.008000	0.14137	0.008000	0.06430	-0.097000	0.11042	0.148000	0.19059	0.147000	0.16070	GAG		0.398	ZNF626-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447845.2	NM_145297		3	69	0	0	0	0.115264	0	3	69					C	20807184	T	C	20807184	3	2	207	1	0	0	0	0	1	0	0	0	18047	1551	54	4	91	4	ZNF626	19	20807184	Missense_Mutation	SNP	T	TCGA-HC-7231-01A-11D-2114-08	1469559	20807184	38321799	56	9565											
IRF2BP1	26145	broad.mit.edu	37	chr19	46388640	46388640	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttggccaggcgggaccccagAgtgtactccagggcgggcga	7	5	17	12	3	0	1	0	0	0	1	1	3	1	2	4	5	1	1	4	5	1	2			TCGA-HC-7231-01A-11D-2114-08	TCGA-HC-7231-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d995ea6-3c34-4bbb-a828-25f95800d404	b981708f-4f68-41ff-9f80-20bb1d64d4fc	g.chr19:46388640A>G	ENST00000302165.3	-	1	736	c.393T>C	c.(391-393)acT>acC	p.T131T		NM_015649.1	NP_056464.1	Q8IU81	I2BP1_HUMAN	interferon regulatory factor 2 binding protein 1	131					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	ligase activity (GO:0016874)|metal ion binding (GO:0046872)			cervix(1)|kidney(1)|lung(2)	4		all_neural(266;0.113)|Ovarian(192;0.127)		OV - Ovarian serous cystadenocarcinoma(262;0.00442)|GBM - Glioblastoma multiforme(486;0.0402)|Epithelial(262;0.231)		GGGACCCCAGAGTGTACTCCA	0.721																																						ENST00000302165.3																			0				cervix(1)|kidney(1)|lung(2)	4						c.(391-393)acT>acC		interferon regulatory factor 2 binding protein 1							10	12	11					19																	46388640		2129	4196	6325	SO:0001819	synonymous_variant	26145				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chr19:46388640A>G	AY278022	CCDS12678.1	19q13.32	2008-02-05							21728	protein-coding gene	gene with protein product		615331				12799427	Standard	NM_015649		Approved	DKFZP434M154, IRF-2BP1	uc002pds.1	Q8IU81		ENST00000302165.3:c.393T>C	19.37:g.46388640A>G							p.T131T	NM_015649.1	NP_056464.1	Q8IU81	I2BP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00442)|GBM - Glioblastoma multiforme(486;0.0402)|Epithelial(262;0.231)	1	736	-		all_neural(266;0.113)|Ovarian(192;0.127)	131					Q53EL7|Q6DC95|Q9BRZ9|Q9Y4P4	Silent	SNP	ENST00000302165.3	37	c.393T>C	CCDS12678.1																																																																																				0.721	IRF2BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461683.1	NM_015649		3	33	0	0	0	0.184627	0	3	33					G	46388640	A	G	46388640	2	3	207	1	0	0	0	0	0	0	0	1	7829	291	11	4		4	IRF2BP1	19	46388640	Silent	SNP	A	TCGA-HC-7231-01A-11D-2114-08	25581456	46388640	12740343	57	9566											
LAMA5	3911	broad.mit.edu	37	chr20	60884512	60884512	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccgcagtaggcggggggccaGggctgcacggccatgggctc	5	4	19	13	3	0	0	0	0	0	0	1	0	0	0	3	7	1	5	3	7	1	1			TCGA-HC-7231-01A-11D-2114-08	TCGA-HC-7231-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d995ea6-3c34-4bbb-a828-25f95800d404	b981708f-4f68-41ff-9f80-20bb1d64d4fc	g.chr20:60884512G>C	ENST00000252999.3	-	80	11034	c.10968C>G	c.(10966-10968)ccC>ccG	p.P3656P	LAMA5_ENST00000492698.1_5'Flank	NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	3656	Laminin G-like 5. {ECO:0000255|PROSITE- ProRule:PRU00122}.				angiogenesis (GO:0001525)|branching involved in salivary gland morphogenesis (GO:0060445)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cell recognition (GO:0008037)|cilium assembly (GO:0042384)|cytoskeleton organization (GO:0007010)|embryo development (GO:0009790)|endothelial cell differentiation (GO:0045446)|establishment of protein localization to plasma membrane (GO:0090002)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|focal adhesion assembly (GO:0048041)|hair follicle development (GO:0001942)|integrin-mediated signaling pathway (GO:0007229)|lung development (GO:0030324)|morphogenesis of a polarized epithelium (GO:0001738)|morphogenesis of embryonic epithelium (GO:0016331)|muscle organ development (GO:0007517)|neural crest cell migration (GO:0001755)|odontogenesis of dentin-containing tooth (GO:0042475)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|regulation of embryonic development (GO:0045995)|substrate adhesion-dependent cell spreading (GO:0034446)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-11 complex (GO:0043260)|laminin-5 complex (GO:0005610)|nucleus (GO:0005634)	integrin binding (GO:0005178)|structural molecule activity (GO:0005198)			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)			CGGGGGGCCAGGGCTGCACGG	0.687																																						ENST00000252999.3																			0				breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81						c.(10966-10968)ccC>ccG		laminin, alpha 5	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						7	9	8					20																	60884512		1939	3920	5859	SO:0001819	synonymous_variant	3911				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding	g.chr20:60884512G>C	AF443072	CCDS33502.1	20q13.2-q13.3	2013-03-01			ENSG00000130702	ENSG00000130702		"Laminins"	6485	protein-coding gene	gene with protein product		601033				9271224	Standard	NM_005560		Approved		uc002ycq.3	O15230	OTTHUMG00000032908	ENST00000252999.3:c.10968C>G	20.37:g.60884512G>C							p.P3656P	NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		80	11034	-	Breast(26;1.57e-08)		3656			Laminin G-like 5.		Q8TDF8|Q8WZA7|Q9H1P1	Silent	SNP	ENST00000252999.3	37	c.10968C>G	CCDS33502.1																																																																																				0.687	LAMA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080014.2	NM_005560		3	8	0	0	0	0.150653	0	3	8					C	60884512	G	C	60884512	2	2	207	1	0	0	0	0	0	0	0	1	8609	987	35	5		5	LAMA5	20	60884512	Silent	SNP	G	TCGA-HC-7231-01A-11D-2114-08		60884512	2141008	58	9567											
KRTAP12-1	353332	broad.mit.edu	37	chr21	46101933	46101933	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggcttgaagctcacgggcaCgcacacggaggactggcagc	9	5	15	12	3	1	1	1	1	0	0	1	3	1	3	0	5	2	5	0	5	1	1	rs139816004		TCGA-HC-7231-01A-11D-2114-08	TCGA-HC-7231-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d995ea6-3c34-4bbb-a828-25f95800d404	b981708f-4f68-41ff-9f80-20bb1d64d4fc	g.chr21:46101933C>T	ENST00000391617.1	-	1	145	c.106G>A	c.(106-108)Gtg>Atg	p.V36M	TSPEAR_ENST00000323084.4_Intron	NM_181686.1	NP_859014.1	P59990	KR121_HUMAN	keratin associated protein 12-1	36	14 X 5 AA approximate repeats.					keratin filament (GO:0045095)				kidney(1)|large_intestine(1)|lung(1)|skin(2)	5						CTCACGGGCACGCACACGGAG	0.687													C|||	1	0.000199681	0	0	5008	,	,		17145	0.001		0	False		,,,				2504	0					ENST00000391617.1																			0				kidney(1)|large_intestine(1)|lung(1)|skin(2)	5						c.(106-108)Gtg>Atg		keratin associated protein 12-1		C	,MET/VAL	2,4376		0,2,2187	59	69	66		,106	-0.3	0	21	dbSNP_134	66	11,8533		0,11,4261	yes	intron,missense	TSPEAR,KRTAP12-1	NM_144991.2,NM_181686.1	,21	0,13,6448	TT,TC,CC		0.1287,0.0457,0.1006	,possibly-damaging	,36/97	46101933	13,12909	2189	4272	6461	SO:0001583	missense	353332					keratin filament		g.chr21:46101933C>T	AJ566388	CCDS42966.1	21q22.3	2006-03-13			ENSG00000187175	ENSG00000187175		"Keratin associated proteins"	20529	protein-coding gene	gene with protein product							Standard	NM_181686		Approved	KRTAP12.1, KAP12.1	uc002zfv.3	P59990	OTTHUMG00000057639	ENST00000391617.1:c.106G>A	21.37:g.46101933C>T	ENSP00000375475:p.Val36Met					TSPEAR_ENST00000323084.4_Intron	p.V36M	NM_181686.1	NP_859014.1	P59990	KR121_HUMAN			1	145	-			36			14 X 5 AA approximate repeats.		Q0VAS3	Missense_Mutation	SNP	ENST00000391617.1	37	c.106G>A	CCDS42966.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	c	7.868	0.727626	0.15439	4.57E-4	0.001287	ENSG00000187175	ENST00000391617	T	0.01430	4.9	2.88	-0.287	0.12858	.	1.157790	0.06996	U	0.822521	T	0.01092	0.0036	.	.	.	0.09310	N	1	B	0.29766	0.256	B	0.19946	0.027	T	0.47699	-0.9097	9	0.42905	T	0.14	.	2.6165	0.04905	0.1871:0.5146:0.1824:0.1159	.	36	P59990	KR121_HUMAN	M	36	ENSP00000375475:V36M	ENSP00000375475:V36M	V	-	1	0	KRTAP12-1	44926361	0.004000	0.15560	0.001000	0.08648	0.004000	0.04260	0.248000	0.18198	-0.215000	0.10063	-0.693000	0.03709	GTG		0.687	KRTAP12-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128043.1	NM_181686		5	119	0	0	0	0.184627	0	5	119					T	46101933	C	T	46101933	3	4	207	1	0	0	0	0	1	0	0	0	8518	536	19	1	188	1	KRTAP12-1	21	46101933	Missense_Mutation	SNP	C	TCGA-HC-7231-01A-11D-2114-08		46101933	2027962	59	9568											
FOXRED2	80020	broad.mit.edu	37	chr22	36897391	36897391	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccccggcttcctttggattcGtagctagctcgaatcagcgg	6	11	11	13	4	1	0	1	0	0	0	4	2	2	1	3	3	3	4	3	3	3	5	rs144879175		TCGA-HC-7231-01A-11D-2114-08	TCGA-HC-7231-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d995ea6-3c34-4bbb-a828-25f95800d404	b981708f-4f68-41ff-9f80-20bb1d64d4fc	g.chr22:36897391G>A	ENST00000397224.4	-	5	1206	c.1113C>T	c.(1111-1113)taC>taT	p.Y371Y	FOXRED2_ENST00000366463.3_5'Flank|FOXRED2_ENST00000397223.4_Silent_p.Y371Y|FOXRED2_ENST00000216187.6_Silent_p.Y371Y	NM_001102371.1	NP_001095841.1	Q8IWF2	FXRD2_HUMAN	FAD-dependent oxidoreductase domain containing 2	371					ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)	endoplasmic reticulum lumen (GO:0005788)	flavin adenine dinucleotide binding (GO:0050660)|glycoprotein binding (GO:0001948)|oxidoreductase activity (GO:0016491)			breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						CTTTGGATTCGTAGCTAGCTC	0.527																																						ENST00000397224.4																			0				breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						c.(1111-1113)taC>taT		FAD-dependent oxidoreductase domain containing 2		G	,	0,4406		0,0,2203	79	78	78		1113,1113	-5.4	0.9	22	dbSNP_134	78	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	FOXRED2	NM_001102371.1,NM_024955.5	,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,	371/685,371/685	36897391	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	80020				ER-associated protein catabolic process	endoplasmic reticulum lumen	flavin adenine dinucleotide binding|oxidoreductase activity|protein binding	g.chr22:36897391G>A	BC027716	CCDS13929.1	22q12.3	2006-07-05			ENSG00000100350	ENSG00000100350			26264	protein-coding gene	gene with protein product		613777				12477932	Standard	NM_024955		Approved	FLJ23322	uc003app.4	Q8IWF2	OTTHUMG00000044614	ENST00000397224.4:c.1113C>T	22.37:g.36897391G>A						FOXRED2_ENST00000397223.4_Silent_p.Y371Y|FOXRED2_ENST00000216187.6_Silent_p.Y371Y	p.Y371Y	NM_001102371.1	NP_001095841.1	Q8IWF2	FXRD2_HUMAN			5	1206	-			371					B2RDI4|Q8N378|Q96BD1|Q9H5L5|Q9H6M8	Silent	SNP	ENST00000397224.4	37	c.1113C>T	CCDS13929.1																																																																																				0.527	FOXRED2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000104098.2	NM_024955		17	39	0	0	0	0.575678	0	17	39					A	36897391	G	A	36897391	2	1	207	1	0	0	0	0	0	0	0	1	6034	1140	40	1		1	FOXRED2	22	36897391	Silent	SNP	G	TCGA-HC-7231-01A-11D-2114-08		36897391	14407175	60	9569											
PHF8	23133	broad.mit.edu	37	chrX	54029074	54029074	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtgtaagaagttccctccaaAggcaaggcagtccacaggcg	12	6	12	11	1	0	1	0	0	0	1	3	1	3	1	3	3	0	4	3	3	4	2			TCGA-HC-7231-01A-11D-2114-08	TCGA-HC-7231-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d995ea6-3c34-4bbb-a828-25f95800d404	b981708f-4f68-41ff-9f80-20bb1d64d4fc	g.chrX:54029074A>C	ENST00000357988.5	-	9	1454	c.1096T>G	c.(1096-1098)Ttt>Gtt	p.F366V	PHF8_ENST00000322659.8_Missense_Mutation_p.F330V|PHF8_ENST00000338154.6_Missense_Mutation_p.F330V|PHF8_ENST00000338946.6_Missense_Mutation_p.F330V	NM_001184896.1	NP_001171825.1	Q9UPP1	PHF8_HUMAN	PHD finger protein 8	366	JmjC. {ECO:0000255|PROSITE- ProRule:PRU00538}.				brain development (GO:0007420)|G1/S transition of mitotic cell cycle (GO:0000082)|histone H3-K27 demethylation (GO:0071557)|histone H3-K36 demethylation (GO:0070544)|histone H3-K9 demethylation (GO:0033169)|histone H4-K20 demethylation (GO:0035574)|mitotic cell cycle (GO:0000278)|negative regulation of chromatin silencing at rDNA (GO:0061188)|positive regulation of transcription from RNA polymerase I promoter (GO:0045943)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|histone demethylase activity (GO:0032452)|histone demethylase activity (H3-K27 specific) (GO:0071558)|histone demethylase activity (H3-K36 specific) (GO:0051864)|histone demethylase activity (H3-K9 specific) (GO:0032454)|histone demethylase activity (H4-K20 specific) (GO:0035575)|iron ion binding (GO:0005506)|methylated histone binding (GO:0035064)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|zinc ion binding (GO:0008270)			endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	40						TTCCCTCCAAAGGCAAGGCAG	0.488																																						ENST00000338154.6																			0				endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	40						c.(988-990)Ttt>Gtt		PHD finger protein 8							153	102	119					X																	54029074		2203	4300	6503	SO:0001583	missense	23133				brain development|G1/S transition of mitotic cell cycle|negative regulation of chromatin silencing at rDNA|positive regulation of transcription from RNA polymerase I promoter|transcription, DNA-dependent	nucleolus	chromatin binding|histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding	g.chrX:54029074A>C	AB029034	CCDS14355.1, CCDS55418.1, CCDS55419.1, CCDS55420.1	Xp11.22	2013-01-28			ENSG00000172943	ENSG00000172943		"Chromatin-modifying enzymes / K-demethylases", "Zinc fingers, PHD-type"	20672	protein-coding gene	gene with protein product	"jumonji C domain-containing histone demethylase 1F"	300560				10470851, 20023638, 20644565	Standard	NM_015107		Approved	ZNF422, KIAA1111, JHDM1F	uc004dsu.3	Q9UPP1	OTTHUMG00000021622	ENST00000357988.5:c.1096T>G	X.37:g.54029074A>C	ENSP00000350676:p.Phe366Val					PHF8_ENST00000357988.5_Missense_Mutation_p.F366V|PHF8_ENST00000338946.6_Missense_Mutation_p.F330V|PHF8_ENST00000322659.8_Missense_Mutation_p.F330V	p.F330V	NM_015107.2	NP_055922.1	Q9UPP1	PHF8_HUMAN			9	1492	-			366			JmjC.		B3KMV4|B7Z911|Q5H9U5|Q5JPR9|Q5JPS0|Q5JPS2|Q5JPS3|Q5VUJ4|Q7Z6D4|Q9HAH2	Missense_Mutation	SNP	ENST00000357988.5	37	c.988T>G	CCDS55420.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	25.9|25.9	4.685487|4.685487	0.88639|0.88639	.|.	.|.	ENSG00000172943|ENSG00000172943	ENST00000357988;ENST00000338154;ENST00000338946;ENST00000396277;ENST00000322659|ENST00000443302	T;T;T;T|.	0.68025|.	-0.3;-0.3;-0.3;-0.3|.	5.81|5.81	5.81|5.81	0.92471|0.92471	Transcription factor jumonji/aspartyl beta-hydroxylase (2);Transcription factor jumonji (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.69663|0.69663	0.3136|0.3136	L|L	0.60067|0.60067	1.865|1.865	0.80722|0.80722	D|D	1|1	P;D;D;P|.	0.67145|.	0.681;0.996;0.995;0.856|.	P;D;D;P|.	0.72075|.	0.614;0.976;0.96;0.694|.	T|T	0.68561|0.68561	-0.5376|-0.5376	10|5	0.54805|.	T|.	0.06|.	-12.4409|-12.4409	14.0193|14.0193	0.64543|0.64543	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	330;330;366;366|.	Q9UPP1-2;B7Z911;Q9UPP1-3;Q9UPP1|.	.;.;.;PHF8_HUMAN|.	V|R	366;330;330;360;330|93	ENSP00000350676:F366V;ENSP00000338868:F330V;ENSP00000340051:F330V;ENSP00000319473:F330V|.	ENSP00000319473:F330V|.	F|L	-|-	1|2	0|0	PHF8|PHF8	54045799|54045799	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	8.976000|8.976000	0.93442|0.93442	1.956000|1.956000	0.56807|0.56807	0.417000|0.417000	0.27973|0.27973	TTT|CTT		0.488	PHF8-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000056784.2	NM_015107		3	26	0	0	0	0.184627	0	3	26					C	54029074	A	C	54029074	3	2	207	1	0	0	0	0	1	0	0	0	11840	72	3	5	2312	5	PHF8	23	54029074	Missense_Mutation	SNP	A	TCGA-HC-7231-01A-11D-2114-08		54029074	101241486	61	9570											
DCAF12L1	139170	broad.mit.edu	37	chrX	125685920	125685920	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acagtgtcatcgaacttgtcCgggtccatccgccacagcgc	8	8	10	15	4	1	0	1	0	0	0	5	1	4	0	4	1	2	0	4	1	1	1			TCGA-HC-7231-01A-11D-2114-08	TCGA-HC-7231-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d995ea6-3c34-4bbb-a828-25f95800d404	b981708f-4f68-41ff-9f80-20bb1d64d4fc	g.chrX:125685920C>T	ENST00000371126.1	-	1	914	c.672G>A	c.(670-672)ccG>ccA	p.P224P		NM_178470.4	NP_848565.2	Q5VU92	DC121_HUMAN	DDB1 and CUL4 associated factor 12-like 1	224								p.P224P(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(39)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68						CGAACTTGTCCGGGTCCATCC	0.642																																						ENST00000371126.1																			1	Substitution - coding silent(1)	p.P224P(1)	endometrium(1)	breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(39)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68						c.(670-672)ccG>ccA		DDB1 and CUL4 associated factor 12-like 1							34	36	35					X																	125685920		2202	4297	6499	SO:0001819	synonymous_variant	139170							g.chrX:125685920C>T	BC035674	CCDS14610.1	Xq25	2013-01-09	2009-07-17	2009-07-17	ENSG00000198889	ENSG00000198889		"WD repeat domain containing"	29395	protein-coding gene	gene with protein product			"WD repeat domain 40B"	WDR40B		12477932	Standard	NM_178470		Approved	KIAA1892L	uc004eul.3	Q5VU92	OTTHUMG00000022353	ENST00000371126.1:c.672G>A	X.37:g.125685920C>T							p.P224P	NM_178470.4	NP_848565.2	Q5VU92	DC121_HUMAN			1	914	-			224					Q8IYK3	Silent	SNP	ENST00000371126.1	37	c.672G>A	CCDS14610.1																																																																																				0.642	DCAF12L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058186.1	NM_178470		25	14	0	0	0	0.729181	0	25	14					T	125685920	C	T	125685920	2	4	207	1	0	0	0	0	0	0	0	1	4264	639	23	2		2	DCAF12L1	23	125685920	Silent	SNP	C	TCGA-HC-7231-01A-11D-2114-08	71656846	125685920	29584640	62	9571											
PTCHD2	57540	broad.mit.edu	37	chr1	11596429	11596429	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgctggaggccgtgcggcacGtgggcgtggccatcgtctcc	3	7	17	14	6	1	0	0	0	1	0	3	1	1	1	3	5	1	2	3	5	0	0	rs545099796		TCGA-HC-7232-01A-11D-2114-08	TCGA-HC-7232-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82d7dc1-f6b3-4474-93bd-9bfbefe30139	1c5be2f0-5804-4689-903c-022227fc964e	g.chr1:11596429G>A	ENST00000294484.6	+	21	4003	c.3865G>A	c.(3865-3867)Gtg>Atg	p.V1289M	PTCHD2_ENST00000304391.6_Missense_Mutation_p.R175H|PTCHD2_ENST00000389575.3_Missense_Mutation_p.V1289M	NM_020780.1	NP_065831.1	Q9P2K9	PTHD2_HUMAN	patched domain containing 2	1289					cholesterol homeostasis (GO:0042632)|regulation of lipid transport (GO:0032368)|smoothened signaling pathway (GO:0007224)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965)	hedgehog receptor activity (GO:0008158)			NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	76	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)		CGTGCGGCACGTGGGCGTGGC	0.667													G|||	1	0.000199681	8e-04	0	5008	,	,		16595	0		0	False		,,,				2504	0					ENST00000294484.6																			0				NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	76						c.(3865-3867)Gtg>Atg		patched domain containing 2							73	76	75					1																	11596429		2190	4267	6457	SO:0001583	missense	57540				cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway	endoplasmic reticulum|integral to membrane|nuclear membrane	hedgehog receptor activity	g.chr1:11596429G>A	AB037758	CCDS41247.1	1p36.22	2010-02-17			ENSG00000204624	ENSG00000204624			29251	protein-coding gene	gene with protein product		611251				15738394	Standard	NM_020780		Approved	KIAA1337, DISP3	uc001ash.4	Q9P2K9	OTTHUMG00000002074	ENST00000294484.6:c.3865G>A	1.37:g.11596429G>A	ENSP00000294484:p.Val1289Met					PTCHD2_ENST00000389575.3_Missense_Mutation_p.V1289M|PTCHD2_ENST00000304391.6_Missense_Mutation_p.R175H	p.V1289M	NM_020780.1	NP_065831.1	Q9P2K9	PTHD2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)	21	4003	+	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	1289					Q5VTU9|Q9UJD6	Missense_Mutation	SNP	ENST00000294484.6	37	c.3865G>A	CCDS41247.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.70|18.70	3.680972|3.680972	0.68042|0.68042	.|.	.|.	ENSG00000204624|ENSG00000204624	ENST00000304391|ENST00000294484;ENST00000389575	.|D;D	.|0.92397	.|-3.03;-2.09	4.89|4.89	4.89|4.89	0.63831|0.63831	.|Membrane transport protein, MMPL type (1);	.|0.000000	.|0.64402	.|D	.|0.000005	D|D	0.91456|0.91456	0.7303|0.7303	N|N	0.19112|0.19112	0.55|0.55	0.46521|0.46521	D|D	0.999088|0.999088	.|D	.|0.89917	.|1.0	.|D	.|0.83275	.|0.996	D|D	0.87454|0.87454	0.2403|0.2403	6|10	0.87932|0.07325	D|T	0|0.83	-23.8108|-23.8108	17.0791|17.0791	0.86593|0.86593	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|1289	.|Q9P2K9	.|PTHD2_HUMAN	H|M	175|1289	.|ENSP00000294484:V1289M;ENSP00000374226:V1289M	ENSP00000303400:R175H|ENSP00000294484:V1289M	R|V	+|+	2|1	0|0	PTCHD2|PTCHD2	11519016|11519016	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.978000|0.978000	0.69477|0.69477	6.347000|6.347000	0.73004|0.73004	2.256000|2.256000	0.74724|0.74724	0.655000|0.655000	0.94253|0.94253	CGT|GTG		0.667	PTCHD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000005770.2	XM_052561		19	36	0	0	0	0.557998	0	19	36					A	11596429	G	A	11596429	3	1	208	1	0	0	0	0	1	0	0	0	12733	1145	40	1	3943	1	PTCHD2	1	11596429	Missense_Mutation	SNP	G	TCGA-HC-7232-01A-11D-2114-08		11596429	237654192	1	9572											
TCHH	7062	broad.mit.edu	37	chr1	152082220	152082220	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctggcgccttctcttctccGgttcctctctcagcagctgc	2	13	8	18	2	4	0	1	0	3	0	8	0	5	0	4	2	3	3	4	2	0	3	rs113946258	byFrequency	TCGA-HC-7232-01A-11D-2114-08	TCGA-HC-7232-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82d7dc1-f6b3-4474-93bd-9bfbefe30139	1c5be2f0-5804-4689-903c-022227fc964e	g.chr1:152082220G>C	ENST00000368804.1	-	2	3472	c.3473C>G	c.(3472-3474)cCg>cGg	p.P1158R		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	1158	10 X 30 AA tandem repeats.				keratinization (GO:0031424)	cytoskeleton (GO:0005856)	calcium ion binding (GO:0005509)			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCTCTTCTCCGGTTCCTCTCT	0.592																																						ENST00000368804.1																			0				NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105						c.(3472-3474)cCg>cGg		trichohyalin							71	70	70					1																	152082220		1986	4171	6157	SO:0001583	missense	7062				keratinization	cytoskeleton	calcium ion binding	g.chr1:152082220G>C	L09190	CCDS41396.1	1q21-q23	2013-01-10		2006-01-27	ENSG00000159450	ENSG00000159450		"EF-hand domain containing"	11791	protein-coding gene	gene with protein product		190370		THH		1431214	Standard	NM_007113		Approved		uc001ezp.3	Q07283	OTTHUMG00000013066	ENST00000368804.1:c.3473C>G	1.37:g.152082220G>C	ENSP00000357794:p.Pro1158Arg						p.P1158R	NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	3472	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1158			10 X 30 AA tandem repeats.		Q5VUI3	Missense_Mutation	SNP	ENST00000368804.1	37	c.3473C>G	CCDS41396.1	.	.	.	.	.	.	.	.	.	.	g	1.340	-0.594289	0.03771	.	.	ENSG00000159450	ENST00000368804	T	0.04603	3.59	1.86	-3.72	0.04411	.	.	.	.	.	T	0.00412	0.0013	N	0.02539	-0.55	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.45716	-0.9242	9	0.16420	T	0.52	.	1.558	0.02589	0.2814:0.2588:0.3346:0.1252	.	1158	Q07283	TRHY_HUMAN	R	1158	ENSP00000357794:P1158R	ENSP00000357794:P1158R	P	-	2	0	TCHH	150348844	0.000000	0.05858	0.024000	0.17045	0.006000	0.05464	-6.257000	0.00073	-1.230000	0.02561	-1.439000	0.01073	CCG		0.592	TCHH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036671.2	NM_007113		3	68	0	0	0	0.248553	0	3	68					C	152082220	G	C	152082220	3	2	208	1	0	0	0	0	1	0	0	0	15697	1116	39	5	2362	5	TCHH	1	152082220	Missense_Mutation	SNP	G	TCGA-HC-7232-01A-11D-2114-08	140485791	152082220	97168401	2	9573											
SPTA1	6708	broad.mit.edu	37	chr1	158637824	158637824	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttcaaagacttgctgctttTgaaccctgctcttcaagttc	8	16	6	11	0	3	2	2	1	1	1	4	2	3	2	1	0	4	4	1	0	3	6			TCGA-HC-7232-01A-11D-2114-08	TCGA-HC-7232-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82d7dc1-f6b3-4474-93bd-9bfbefe30139	1c5be2f0-5804-4689-903c-022227fc964e	g.chr1:158637824T>A	ENST00000368147.4	-	15	2042	c.1862A>T	c.(1861-1863)cAa>cTa	p.Q621L		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	621					actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					TTGCTGCTTTTGAACCCTGCT	0.388																																						ENST00000368148.3																			0				NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307						c.(1861-1863)cAa>cTa		spectrin, alpha, erythrocytic 1 (elliptocytosis 2)							189	177	181					1																	158637824		1835	4086	5921	SO:0001583	missense	6708				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	g.chr1:158637824T>A	M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"EF-hand domain containing"	11272	protein-coding gene	gene with protein product	"elliptocytosis 2"	182860	"spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.1862A>T	1.37:g.158637824T>A	ENSP00000357129:p.Gln621Leu					SPTA1_ENST00000368147.3_Missense_Mutation_p.Q621L	p.Q621L	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN			15	2042	-	all_hematologic(112;0.0378)		621					Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Missense_Mutation	SNP	ENST00000368147.4	37	c.1862A>T	CCDS41423.1	.	.	.	.	.	.	.	.	.	.	T	15.89	2.965124	0.53507	.	.	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.53640	0.61;0.61	5.13	3.98	0.46160	.	0.000000	0.30890	N	0.008669	T	0.35248	0.0925	M	0.69463	2.115	0.46356	D	0.999004	B	0.22983	0.078	B	0.36766	0.232	T	0.27839	-1.0062	10	0.40728	T	0.16	.	10.2374	0.43290	0.1485:0.0:0.0:0.8515	.	621	P02549	SPTA1_HUMAN	L	621	ENSP00000357130:Q621L;ENSP00000357129:Q621L	ENSP00000357129:Q621L	Q	-	2	0	SPTA1	156904448	1.000000	0.71417	0.985000	0.45067	0.943000	0.58893	5.110000	0.64622	0.943000	0.37553	0.528000	0.53228	CAA		0.388	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126		4	189	0	0	0	0.184627	0	4	189					A	158637824	T	A	158637824	3	1	208	1	0	0	0	0	1	0	0	0	15115	1812	63	5	5549	5	SPTA1	1	158637824	Missense_Mutation	SNP	T	TCGA-HC-7232-01A-11D-2114-08	6555604	158637824	90612797	3	9574											
HMCN1	83872	broad.mit.edu	37	chr1	185959468	185959468	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gataagcctgttgagatctcCgtccttgcaggggaagaggt	9	10	14	8	1	1	2	0	1	1	2	3	5	2	3	3	3	2	2	3	3	2	3			TCGA-HC-7232-01A-11D-2114-08	TCGA-HC-7232-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82d7dc1-f6b3-4474-93bd-9bfbefe30139	1c5be2f0-5804-4689-903c-022227fc964e	g.chr1:185959468C>T	ENST00000271588.4	+	22	3499	c.3270C>T	c.(3268-3270)tcC>tcT	p.S1090S	HMCN1_ENST00000367492.2_Silent_p.S1090S|HMCN1_ENST00000485744.1_3'UTR	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	1090	Ig-like C2-type 8.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)	p.S1090S(1)		NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						TTGAGATCTCCGTCCTTGCAG	0.458																																						ENST00000271588.4																			1	Substitution - coding silent(1)	p.S1090S(1)	lung(1)	NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						c.(3268-3270)tcC>tcT		hemicentin 1							243	240	241					1																	185959468		2203	4300	6503	SO:0001819	synonymous_variant	83872				response to stimulus|visual perception	basement membrane	calcium ion binding	g.chr1:185959468C>T	AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"Fibulins", "Immunoglobulin superfamily / I-set domain containing"	19194	protein-coding gene	gene with protein product	"fibulin 6"	608548	"age-related macular degeneration 1 (senile macular degeneration)"	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.3270C>T	1.37:g.185959468C>T						HMCN1_ENST00000367492.2_Silent_p.S1090S|HMCN1_ENST00000485744.1_3'UTR	p.S1090S	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN			22	3499	+			1090			Ig-like C2-type 8.		A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Silent	SNP	ENST00000271588.4	37	c.3270C>T	CCDS30956.1																																																																																				0.458	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935		69	180	0	0	0	0.870114	0	69	180					T	185959468	C	T	185959468	2	4	208	1	0	0	0	0	0	0	0	1	7220	639	23	2		2	HMCN1	1	185959468	Silent	SNP	C	TCGA-HC-7232-01A-11D-2114-08	27321644	185959468	63291153	4	9575											
ASTL	431705	broad.mit.edu	37	chr2	96789882	96789882	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctccccaggccctgcaggaaCgggctggcctcccgcactgg	5	5	13	18	2	0	0	0	0	0	0	2	1	2	1	5	5	2	3	5	5	1	0	rs199510888		TCGA-HC-7232-01A-11D-2114-08	TCGA-HC-7232-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82d7dc1-f6b3-4474-93bd-9bfbefe30139	1c5be2f0-5804-4689-903c-022227fc964e	g.chr2:96789882C>T	ENST00000342380.2	-	9	1002	c.1003G>A	c.(1003-1005)Gtt>Att	p.V335I		NM_001002036.3	NP_001002036.3			astacin-like metallo-endopeptidase (M12 family)									p.V335F(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|prostate(1)|skin(2)	30						CCTGCAGGAACGGGCTGGCCT	0.672																																						ENST00000342380.2																			1	Substitution - Missense(1)	p.V335F(1)	lung(1)	endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|prostate(1)|skin(2)	30						c.(1003-1005)Gtt>Att		astacin-like metallo-endopeptidase (M12 family)		C	ILE/VAL	1,4405		0,1,2202	35	40	38		1003	-3.2	0	2	dbSNP_134	38	0,8596		0,0,4298	no	missense	ASTL	NM_001002036.3	29	0,1,6500	TT,TC,CC		0.0,0.0227,0.0077	benign	335/432	96789882	1,13001	2203	4298	6501	SO:0001583	missense	431705				proteolysis		metalloendopeptidase activity|zinc ion binding	g.chr2:96789882C>T	AJ537600	CCDS33249.1	2q11.1	2014-07-23	2006-10-10		ENSG00000188886	ENSG00000188886	3.4.24.21		31704	protein-coding gene	gene with protein product	"sperm acrosomal SLLP1 binding"	608860	"astacin-like metalloendopeptidase (M12 family)"			15087446	Standard	NM_001002036		Approved	ovastacin, SAS1B	uc010yui.2	Q6HA08	OTTHUMG00000155212	ENST00000342380.2:c.1003G>A	2.37:g.96789882C>T	ENSP00000343674:p.Val335Ile						p.V335I	NM_001002036.3	NP_001002036.3	Q6HA08	ASTL_HUMAN			9	1002	-			335						Missense_Mutation	SNP	ENST00000342380.2	37	c.1003G>A	CCDS33249.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	0.172	-1.070451	0.01918	2.27E-4	0.0	ENSG00000188886	ENST00000342380	T	0.62639	0.01	4.42	-3.21	0.05140	.	1.101430	0.07191	N	0.855800	T	0.32941	0.0846	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.13308	-1.0514	10	0.17369	T	0.5	-0.015	3.7533	0.08575	0.2628:0.3714:0.0:0.3658	.	335	Q6HA08	ASTL_HUMAN	I	335	ENSP00000343674:V335I	ENSP00000343674:V335I	V	-	1	0	ASTL	96153609	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.316000	0.02710	-0.505000	0.06568	-1.053000	0.02334	GTT		0.672	ASTL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338801.1			17	57	0	0	0	0.557998	0	17	57					T	96789882	C	T	96789882	3	4	208	1	0	0	0	0	1	0	0	0	1063	536	19	1	295	1	ASTL	2	96789882	Missense_Mutation	SNP	C	TCGA-HC-7232-01A-11D-2114-08		96789882	146409491	5	9576											
BUB1	699	broad.mit.edu	37	chr2	111416223	111416223	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttgtgtgcacggtgggtgatGgctgcactttggatggcgtt	4	14	17	6	2	0	1	0	1	0	0	0	2	0	2	0	5	2	4	0	5	0	3			TCGA-HC-7232-01A-11D-2114-08	TCGA-HC-7232-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82d7dc1-f6b3-4474-93bd-9bfbefe30139	1c5be2f0-5804-4689-903c-022227fc964e	g.chr2:111416223G>T	ENST00000302759.6	-	12	1491	c.1373C>A	c.(1372-1374)cCa>cAa	p.P458Q	BUB1_ENST00000409311.1_Missense_Mutation_p.P458Q|BUB1_ENST00000535254.1_Missense_Mutation_p.P438Q	NM_004336.3	NP_004327.1	O43683	BUB1_HUMAN	BUB1 mitotic checkpoint serine/threonine kinase	458	Essential for loading of BUBR1, MAD1L1 and MAD2L1 to kinetochores.				apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|chromosome segregation (GO:0007059)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|regulation of chromosome segregation (GO:0051983)|regulation of sister chromatid cohesion (GO:0007063)|spindle assembly checkpoint (GO:0071173)|viral process (GO:0016032)	condensed chromosome kinetochore (GO:0000777)|condensed nuclear chromosome, centromeric region (GO:0000780)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(3)|endometrium(8)|kidney(4)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|stomach(1)	45		Ovarian(717;0.0822)		BRCA - Breast invasive adenocarcinoma(221;0.0556)		GGTGGGTGATGGCTGCACTTT	0.433																																						ENST00000535254.1																			0				breast(3)|endometrium(8)|kidney(4)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|stomach(1)	45						c.(1312-1314)cCa>cAa		BUB1 mitotic checkpoint serine/threonine kinase							227	193	205					2																	111416223		2203	4300	6503	SO:0001583	missense	699				apoptosis|cell division|chromosome segregation|interspecies interaction between organisms|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|regulation of sister chromatid cohesion	condensed chromosome kinetochore|cytosol	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr2:111416223G>T	AF046078	CCDS33273.1, CCDS62984.1, CCDS62985.1	2q13	2013-01-17	2013-01-17		ENSG00000169679	ENSG00000169679			1148	protein-coding gene	gene with protein product		602452	"budding uninhibited by benzimidazoles 1 (yeast homolog)", "budding uninhibited by benzimidazoles 1 homolog (yeast)"	BUB1L			Standard	NM_004336		Approved	hBUB1, BUB1A	uc002tgc.3	O43683	OTTHUMG00000153638	ENST00000302759.6:c.1373C>A	2.37:g.111416223G>T	ENSP00000302530:p.Pro458Gln					BUB1_ENST00000302759.6_Missense_Mutation_p.P458Q|BUB1_ENST00000409311.1_Missense_Mutation_p.P458Q	p.P438Q	NM_001278616.1	NP_001265545.1	O43683	BUB1_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0556)	11	1380	-		Ovarian(717;0.0822)	458					E9PC26|F5GXI5|O43430|O43643|O60626|Q53QE4	Missense_Mutation	SNP	ENST00000302759.6	37	c.1313C>A	CCDS33273.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.204300	0.79127	.	.	ENSG00000169679	ENST00000535254;ENST00000409311;ENST00000302759;ENST00000541432	T;T;T	0.76578	-0.08;-1.03;0.2	5.86	4.99	0.66335	.	0.000000	0.85682	D	0.000000	D	0.86125	0.5858	M	0.65498	2.005	0.49389	D	0.99978	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.87298	0.2303	10	0.66056	D	0.02	-15.8207	13.3032	0.60336	0.0768:0.0:0.9232:0.0	.	438;458;458	F5GXI5;E9PC26;O43683	.;.;BUB1_HUMAN	Q	438;458;458;458	ENSP00000441013:P438Q;ENSP00000386701:P458Q;ENSP00000302530:P458Q	ENSP00000302530:P458Q	P	-	2	0	BUB1	111132696	1.000000	0.71417	0.920000	0.36463	0.979000	0.70002	7.540000	0.82074	1.623000	0.50342	0.650000	0.86243	CCA		0.433	BUB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331925.1	NM_004336		4	81	1	0	0.00909568	0.150653	0.00980628	4	81					T	111416223	G	T	111416223	3	4	208	1	0	0	0	0	1	0	0	0	1570	1348	47	5	1940	5	BUB1	2	111416223	Missense_Mutation	SNP	G	TCGA-HC-7232-01A-11D-2114-08	14626341	111416223	131783150	6	9577											
UGT1A9	54600	broad.mit.edu	37	chr2	234581373	234581373	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttggactatcccaaacccGtgatgcccaacatgatcttc	10	12	6	13	1	1	2	0	2	1	0	3	3	2	3	3	1	3	0	3	1	3	4	rs142414435	byFrequency	TCGA-HC-7232-01A-11D-2114-08	TCGA-HC-7232-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82d7dc1-f6b3-4474-93bd-9bfbefe30139	1c5be2f0-5804-4689-903c-022227fc964e	g.chr2:234581373G>A	ENST00000354728.4	+	1	875	c.793G>A	c.(793-795)Gtg>Atg	p.V265M	UGT1A1_ENST00000373450.4_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A1_ENST00000609637.1_Missense_Mutation_p.V265M			O60656	UD19_HUMAN	UDP glucuronosyltransferase 1 family, polypeptide A9	265					cellular glucuronidation (GO:0052695)|cellular lipid metabolic process (GO:0044255)|drug metabolic process (GO:0017144)|flavone metabolic process (GO:0051552)|flavonoid glucuronidation (GO:0052696)|metabolic process (GO:0008152)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cellular glucuronidation (GO:2001030)|negative regulation of fatty acid metabolic process (GO:0045922)|retinoic acid metabolic process (GO:0042573)|small molecule metabolic process (GO:0044281)|xenobiotic glucuronidation (GO:0052697)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|glucuronosyltransferase activity (GO:0015020)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|retinoic acid binding (GO:0001972)			breast(2)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	37		Breast(86;0.000766)|all_lung(227;0.00269)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0331)|Lung NSC(271;0.0459)|Lung SC(224;0.128)		Epithelial(121;1.26e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000436)|Lung(119;0.00347)|LUSC - Lung squamous cell carcinoma(224;0.00757)	Acetaminophen(DB00316)|Buprenorphine(DB00921)|Canagliflozin(DB08907)|Dabigatran etexilate(DB06695)|Dapagliflozin(DB06292)|Entacapone(DB00494)|Etodolac(DB00749)|Ezogabine(DB04953)|Flurbiprofen(DB00712)|Haloperidol(DB00502)|Human Serum Albumin(DB00062)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Indomethacin(DB00328)|Irinotecan(DB00762)|Ketobemidone(DB06738)|Lumiracoxib(DB01283)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Nateglinide(DB00731)|Niflumic Acid(DB04552)|Oxazepam(DB00842)|Propofol(DB00818)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sulfamethoxazole(DB01015)|Tapentadol(DB06204)|Valproic Acid(DB00313)|Zileuton(DB00744)	TCCCAAACCCGTGATGCCCAA	0.438													G|||	2	0.000399361	0.0015	0	5008	,	,		18338	0		0	False		,,,				2504	0					ENST00000354728.4																			0				breast(2)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	37						c.(793-795)Gtg>Atg				G	,,MET/VAL	6,4400	11.4+/-27.6	0,6,2197	213	199	204		,,793	1.2	1	2	dbSNP_134	204	0,8600		0,0,4300	no	intron,intron,missense	UGT1A10,UGT1A8,UGT1A9	NM_019075.2,NM_019076.4,NM_021027.2	,,21	0,6,6497	AA,AG,GG		0.0,0.1362,0.0461	,,	,,265/531	234581373	6,13000	2203	4300	6503	SO:0001583	missense	0							g.chr2:234581373G>A	AF056188	CCDS2505.1	2q37	2010-03-05	2005-07-20		ENSG00000241119	ENSG00000241119		"UDP glucuronosyltransferases"	12541	other	complex locus constituent		606434	"UDP glycosyltransferase 1 family, polypeptide A9"			9295054, 1910331	Standard	NM_021027		Approved	HLUGP4, LUGP4, UGT1AI		O60656	OTTHUMG00000059124	ENST00000354728.4:c.793G>A	2.37:g.234581373G>A	ENSP00000346768:p.Val265Met					UGT1A10_ENST00000373445.1_Intron|UGT1A8_ENST00000373450.4_Intron|UGT1A10_ENST00000344644.5_Intron	p.V265M	NM_021027.2	NP_066307.1				Epithelial(121;1.26e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000436)|Lung(119;0.00347)|LUSC - Lung squamous cell carcinoma(224;0.00757)	1	875	+		Breast(86;0.000766)|all_lung(227;0.00269)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0331)|Lung NSC(271;0.0459)|Lung SC(224;0.128)						B8K285|P36509|Q9HAX0	Missense_Mutation	SNP	ENST00000354728.4	37	c.793G>A	CCDS2505.1	.	.	.	.	.	.	.	.	.	.	G	12.69	2.013250	0.35511	0.001362	0.0	ENSG00000241119	ENST00000354728	T	0.61510	0.1	3.26	1.17	0.20885	.	.	.	.	.	T	0.59715	0.2214	M	0.71206	2.165	0.09310	N	1	D;D	0.54397	0.966;0.966	P;P	0.49953	0.627;0.627	T	0.51419	-0.8708	9	0.62326	D	0.03	.	5.2104	0.15314	0.2632:0.0:0.5806:0.1563	.	265;265	Q5DSZ5;O60656	.;UD19_HUMAN	M	265	ENSP00000346768:V265M	ENSP00000346768:V265M	V	+	1	0	UGT1A9	234246112	0.000000	0.05858	0.980000	0.43619	0.769000	0.43574	-1.094000	0.03359	0.680000	0.31366	0.446000	0.29264	GTG		0.438	UGT1A9-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000130995.1	NM_021027		5	291	0	0	0	0.248553	0	5	291					A	234581373	G	A	234581373	3	1	208	1	0	0	0	0	1	0	0	0	16949	1145	40	1	795	1	UGT1A9	2	234581373	Missense_Mutation	SNP	G	TCGA-HC-7232-01A-11D-2114-08	123165150	234581373	8618000	7	9578											
RFTN1	23180	broad.mit.edu	37	chr3	16364942	16364942	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tctctgaagaaagacaatctGcttggtggatacactcccct	11	11	8	11	0	2	3	0	1	2	2	4	4	3	4	2	2	2	1	2	2	4	2			TCGA-HC-7232-01A-11D-2114-08	TCGA-HC-7232-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82d7dc1-f6b3-4474-93bd-9bfbefe30139	1c5be2f0-5804-4689-903c-022227fc964e	g.chr3:16364942G>C	ENST00000334133.4	-	9	1545	c.1273C>G	c.(1273-1275)Cag>Gag	p.Q425E	RFTN1_ENST00000483671.1_5'UTR|RFTN1_ENST00000432519.1_Missense_Mutation_p.Q389E|OXNAD1_ENST00000605932.1_Intron|OXNAD1_ENST00000435829.2_Intron|OXNAD1_ENST00000606098.1_Intron|OXNAD1_ENST00000544043.1_Intron	NM_015150.1	NP_055965.1	Q14699	RFTN1_HUMAN	raftlin, lipid raft linker 1	425					B cell receptor signaling pathway (GO:0050853)|dsRNA transport (GO:0033227)|growth (GO:0040007)|interleukin-17 production (GO:0032620)|membrane raft assembly (GO:0001765)|protein localization to membrane raft (GO:1903044)|protein transport into membrane raft (GO:0032596)|response to exogenous dsRNA (GO:0043330)|T cell antigen processing and presentation (GO:0002457)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 3 signaling pathway (GO:0034138)	cytoplasm (GO:0005737)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	double-stranded RNA binding (GO:0003725)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(8)|lung(8)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	38						AAGACAATCTGCTTGGTGGAT	0.473																																						ENST00000334133.4																			0				central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(8)|lung(8)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	38						c.(1273-1275)Cag>Gag		raftlin, lipid raft linker 1							104	93	97					3																	16364942		2203	4300	6503	SO:0001583	missense	23180					plasma membrane		g.chr3:16364942G>C	D42043	CCDS33712.1	3p24.3	2010-04-09			ENSG00000131378	ENSG00000131378			30278	protein-coding gene	gene with protein product	"raft-linking protein"					7788527, 12805216	Standard	NM_015150		Approved	MIG2, KIAA0084, FLJ23866, Raftlin	uc003cay.3	Q14699	OTTHUMG00000156973	ENST00000334133.4:c.1273C>G	3.37:g.16364942G>C	ENSP00000334153:p.Gln425Glu					OXNAD1_ENST00000435829.2_Intron|RFTN1_ENST00000432519.1_Missense_Mutation_p.Q389E|OXNAD1_ENST00000605932.1_Intron|OXNAD1_ENST00000544043.1_Intron|OXNAD1_ENST00000606098.1_Intron|RFTN1_ENST00000483671.1_5'UTR	p.Q425E	NM_015150.1	NP_055965.1	Q14699	RFTN1_HUMAN			9	1545	-			425					Q0D2G0|Q496Y2|Q4QQI7|Q5JB48|Q7Z7P2	Missense_Mutation	SNP	ENST00000334133.4	37	c.1273C>G	CCDS33712.1	.	.	.	.	.	.	.	.	.	.	G	25.3	4.625728	0.87560	.	.	ENSG00000131378	ENST00000432519;ENST00000334133	T;T	0.39406	1.08;1.08	5.35	5.35	0.76521	.	0.000000	0.85682	D	0.000000	T	0.66829	0.2829	M	0.80183	2.485	0.80722	D	1	D;D	0.71674	0.998;0.998	D;D	0.80764	0.994;0.994	T	0.71497	-0.4575	10	0.87932	D	0	-28.0873	15.9975	0.80262	0.0:0.0:1.0:0.0	.	389;425	G3XAJ6;Q14699	.;RFTN1_HUMAN	E	389;425	ENSP00000403926:Q389E;ENSP00000334153:Q425E	ENSP00000334153:Q425E	Q	-	1	0	RFTN1	16339946	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	8.255000	0.89846	2.503000	0.84419	0.555000	0.69702	CAG		0.473	RFTN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000346908.1	NM_015150		14	52	0	0	0	0.539581	0	14	52					C	16364942	G	C	16364942	3	2	208	1	0	0	0	0	1	0	0	0	13258	1328	46	5	471	5	RFTN1	3	16364942	Missense_Mutation	SNP	G	TCGA-HC-7232-01A-11D-2114-08		16364942	181657488	8	9579											
COL7A1	1294	broad.mit.edu	37	chr3	48626825	48626825	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	catgggccctcacatgcaccGtatactcagtatctggctcc	8	10	8	15	1	3	0	2	0	1	0	4	0	4	0	3	2	2	4	3	2	3	3	rs377763372		TCGA-HC-7232-01A-11D-2114-08	TCGA-HC-7232-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82d7dc1-f6b3-4474-93bd-9bfbefe30139	1c5be2f0-5804-4689-903c-022227fc964e	g.chr3:48626825G>A	ENST00000328333.8	-	17	2356	c.2249C>T	c.(2248-2250)aCg>aTg	p.T750M	COL7A1_ENST00000454817.1_Missense_Mutation_p.T750M	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	750	Fibronectin type-III 6. {ECO:0000255|PROSITE-ProRule:PRU00316}.|Nonhelical region (NC1).				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|collagen type VII trimer (GO:0005590)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	serine-type endopeptidase inhibitor activity (GO:0004867)			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		CACATGCACCGTATACTCAGT	0.622																																						ENST00000328333.8																			0				NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137						c.(2248-2250)aCg>aTg		collagen, type VII, alpha 1		G	MET/THR	1,4405	2.1+/-5.4	0,1,2202	76	70	72		2249	-0.6	0.1	3		72	0,8600		0,0,4300	no	missense	COL7A1	NM_000094.3	81	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	750/2945	48626825	1,13005	2203	4300	6503	SO:0001583	missense	1294				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity	g.chr3:48626825G>A	L02870	CCDS2773.1	3p21.1	2014-09-17	2008-08-01		ENSG00000114270	ENSG00000114270		"Collagens", "Fibronectin type III domain containing"	2214	protein-coding gene	gene with protein product	"collagen VII, alpha-1 polypeptide", "LC collagen"	120120	"epidermolysis bullosa, dystrophic, dominant and recessive"	EBDCT, EBD1, EBR1		1871109	Standard	NM_000094		Approved		uc003ctz.2	Q02388	OTTHUMG00000133541	ENST00000328333.8:c.2249C>T	3.37:g.48626825G>A	ENSP00000332371:p.Thr750Met					COL7A1_ENST00000454817.1_Missense_Mutation_p.T750M	p.T750M	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)	17	2356	-			750			Fibronectin type-III 6.|Nonhelical region (NC1).		Q14054|Q16507	Missense_Mutation	SNP	ENST00000328333.8	37	c.2249C>T	CCDS2773.1	.	.	.	.	.	.	.	.	.	.	G	1.010	-0.688256	0.03328	2.27E-4	0.0	ENSG00000114270	ENST00000328333;ENST00000454817	T;T	0.59638	0.25;0.25	5.26	-0.633	0.11519	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.798742	0.10879	N	0.623974	T	0.49012	0.1532	M	0.62723	1.935	0.09310	N	1	B	0.14438	0.01	B	0.12837	0.008	T	0.45026	-0.9289	10	0.49607	T	0.09	.	5.2124	0.15325	0.3962:0.1398:0.464:0.0	.	750	Q02388	CO7A1_HUMAN	M	750	ENSP00000332371:T750M;ENSP00000412569:T750M	ENSP00000332371:T750M	T	-	2	0	COL7A1	48601829	0.000000	0.05858	0.056000	0.19401	0.042000	0.13812	-0.191000	0.09601	-0.109000	0.12044	-0.751000	0.03497	ACG		0.622	COL7A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257519.1	NM_000094		21	58	0	0	0	0.654019	0	21	58					A	48626825	G	A	48626825	3	1	208	1	0	0	0	0	1	0	0	0	3704	1145	40	1	6993	1	COL7A1	3	48626825	Missense_Mutation	SNP	G	TCGA-HC-7232-01A-11D-2114-08	32261883	48626825	149395605	9	9580											
ALDH1L1	10840	broad.mit.edu	37	chr3	125824617	125824617	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gaatcctccgaagggagcggCcacgtcggtcttgttgtacg	7	9	14	11	5	1	0	0	0	1	0	4	3	3	1	3	3	2	2	3	3	3	3			TCGA-HC-7232-01A-11D-2114-08	TCGA-HC-7232-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82d7dc1-f6b3-4474-93bd-9bfbefe30139	1c5be2f0-5804-4689-903c-022227fc964e	g.chr3:125824617C>G	ENST00000393434.2	-	22	2954	c.2605G>C	c.(2605-2607)Gcc>Ccc	p.A869P	ALDH1L1-AS1_ENST00000512384.1_RNA|ALDH1L1_ENST00000472186.1_Missense_Mutation_p.A869P|ALDH1L1_ENST00000452905.2_Missense_Mutation_p.A768P|ALDH1L1_ENST00000273450.3_Missense_Mutation_p.A879P|ALDH1L1_ENST00000393431.2_3'UTR	NM_012190.3	NP_036322.2	O75891	AL1L1_HUMAN	aldehyde dehydrogenase 1 family, member L1	869	Aldehyde dehydrogenase.				10-formyltetrahydrofolate catabolic process (GO:0009258)|biosynthetic process (GO:0009058)|one-carbon metabolic process (GO:0006730)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	catalytic activity (GO:0003824)|formyltetrahydrofolate dehydrogenase activity (GO:0016155)|hydroxymethyl-, formyl- and related transferase activity (GO:0016742)|methyltransferase activity (GO:0008168)|oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor (GO:0016620)			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(5)|large_intestine(10)|lung(22)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	52				GBM - Glioblastoma multiforme(114;0.0462)	Tetrahydrofolic acid(DB00116)	AAGGGAGCGGCCACGTCGGTC	0.488																																						ENST00000393434.2																			0				NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(5)|large_intestine(10)|lung(22)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	52						c.(2605-2607)Gcc>Ccc		aldehyde dehydrogenase 1 family, member L1	Tetrahydrofolic acid(DB00116)						199	189	193					3																	125824617		2203	4300	6503	SO:0001583	missense	10840				10-formyltetrahydrofolate catabolic process|biosynthetic process		acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity	g.chr3:125824617C>G	AF052732	CCDS3034.1, CCDS58850.1, CCDS58851.1	3q21.2	2010-07-19		2005-01-27	ENSG00000144908	ENSG00000144908	1.5.1.6	"Aldehyde dehydrogenases"	3978	protein-coding gene	gene with protein product	"cytosolic 10-formyltetrahydrofolate dehydrogenase"	600249	"formyltetrahydrofolate dehydrogenase"	FTHFD			Standard	NM_012190		Approved	10-fTHF	uc031sbp.1	O75891	OTTHUMG00000125551	ENST00000393434.2:c.2605G>C	3.37:g.125824617C>G	ENSP00000377083:p.Ala869Pro					ALDH1L1_ENST00000393431.2_3'UTR|ALDH1L1_ENST00000273450.3_Missense_Mutation_p.A879P|ALDH1L1_ENST00000472186.1_Missense_Mutation_p.A869P|ALDH1L1-AS1_ENST00000512384.1_RNA|ALDH1L1_ENST00000452905.2_Missense_Mutation_p.A768P	p.A869P	NM_012190.3	NP_036322.2	O75891	AL1L1_HUMAN		GBM - Glioblastoma multiforme(114;0.0462)	22	2954	-			869			Aldehyde dehydrogenase.		B4DG36|E9PBX3|Q68CS1	Missense_Mutation	SNP	ENST00000393434.2	37	c.2605G>C	CCDS3034.1	.	.	.	.	.	.	.	.	.	.	C	25.5	4.643585	0.87859	.	.	ENSG00000144908	ENST00000273450;ENST00000472186;ENST00000452905;ENST00000393434	T;T;T;T	0.76316	-1.01;-1.01;-1.01;-1.01	4.53	4.53	0.55603	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, C-terminal (1);Aldehyde/histidinol dehydrogenase (1);	0.000000	0.85682	D	0.000000	D	0.86698	0.5995	M	0.72576	2.205	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;0.999	D	0.88180	0.2870	10	0.72032	D	0.01	.	14.7775	0.69740	0.0:1.0:0.0:0.0	.	768;404;869	E9PBX3;Q6ZV71;O75891	.;.;AL1L1_HUMAN	P	879;869;768;869	ENSP00000273450:A879P;ENSP00000420293:A869P;ENSP00000395881:A768P;ENSP00000377083:A869P	ENSP00000273450:A879P	A	-	1	0	ALDH1L1	127307307	1.000000	0.71417	0.995000	0.50966	0.820000	0.46376	7.380000	0.79704	2.329000	0.79093	0.591000	0.81541	GCC		0.488	ALDH1L1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354391.1	NM_012190		40	125	0	0	0	0.870114	0	40	125					G	125824617	C	G	125824617	3	3	208	1	0	0	0	0	1	0	0	0	494	739	26	5	111	5	ALDH1L1	3	125824617	Missense_Mutation	SNP	C	TCGA-HC-7232-01A-11D-2114-08	77197792	125824617	72197813	10	9581											
AP2M1	1173	broad.mit.edu	37	chr3	183901338	183901338	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gaaccgaagctgaactacagCgaccatgatgtcatcaaatg	15	7	9	10	2	2	2	2	2	0	0	2	5	2	2	2	0	5	1	2	0	5	1			TCGA-HC-7232-01A-11D-2114-08	TCGA-HC-7232-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82d7dc1-f6b3-4474-93bd-9bfbefe30139	1c5be2f0-5804-4689-903c-022227fc964e	g.chr3:183901338C>T	ENST00000292807.5	+	12	1390	c.1242C>T	c.(1240-1242)agC>agT	p.S414S	EIF2B5_ENST00000444495.1_Intron|AP2M1_ENST00000382456.3_Silent_p.S412S|ABCF3_ENST00000429586.2_5'Flank|ABCF3_ENST00000292808.5_5'Flank|AP2M1_ENST00000411763.2_Silent_p.S439S|AP2M1_ENST00000461733.1_3'UTR|AP2M1_ENST00000439647.1_Silent_p.S412S	NM_004068.3	NP_004059.2	Q96CW1	AP2M1_HUMAN	adaptor-related protein complex 2, mu 1 subunit	414	MHD. {ECO:0000255|PROSITE- ProRule:PRU00404}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon guidance (GO:0007411)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of protein localization to plasma membrane (GO:1903077)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of defense response to virus by virus (GO:0050690)|synaptic transmission (GO:0007268)|viral process (GO:0016032)	clathrin adaptor complex (GO:0030131)|clathrin-coated endocytic vesicle membrane (GO:0030669)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)|transporter activity (GO:0005215)			endometrium(1)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(1)	18	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		Epithelial(37;2.92e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			TGAACTACAGCGACCATGATG	0.557																																						ENST00000382456.3																			0				endometrium(1)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(1)	18						c.(1234-1236)agC>agT		adaptor-related protein complex 2, mu 1 subunit							79	86	84					3																	183901338		2049	4187	6236	SO:0001819	synonymous_variant	1173				axon guidance|cellular membrane organization|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|vesicle-mediated transport|viral reproduction	clathrin adaptor complex|clathrin coat of coated pit|cytosol|endocytic vesicle membrane|peroxisomal membrane	lipid binding|protein binding|transporter activity	g.chr3:183901338C>T	U36188	CCDS43177.1, CCDS43178.1	3q28	2008-07-18			ENSG00000161203	ENSG00000161203			564	protein-coding gene	gene with protein product	"clathrin-associated/assembly/adaptor protein, medium 1", "plasma membrane adaptor AP-2 50kDA protein", "clathrin coat adaptor protein AP50", "clathrin adaptor complex AP2, mu subunit", "HA2 50 kDA subunit", "clathrin assembly protein complex 2 medium chain", "AP-2 mu 2 chain"	601024		CLAPM1		8595912	Standard	NM_004068		Approved	AP50, mu2	uc003fmw.3	Q96CW1	OTTHUMG00000156822	ENST00000292807.5:c.1242C>T	3.37:g.183901338C>T						AP2M1_ENST00000461733.1_3'UTR|AP2M1_ENST00000439647.1_Silent_p.S412S|AP2M1_ENST00000292807.5_Silent_p.S414S|EIF2B5_ENST00000444495.1_Intron|AP2M1_ENST00000411763.2_Silent_p.S439S	p.S412S	NM_001025205.1	NP_001020376.1	Q96CW1	AP2M1_HUMAN	Epithelial(37;2.92e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		11	1550	+	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		414			MHD.		A6NE12|D3DNT1|P20172|P53679	Silent	SNP	ENST00000292807.5	37	c.1236C>T	CCDS43177.1																																																																																				0.557	AP2M1-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000346013.1	NM_004068		16	51	0	0	0	0.557998	0	16	51					T	183901338	C	T	183901338	2	4	208	1	0	0	0	0	0	0	0	1	742	767	27	1		1	AP2M1	3	183901338	Silent	SNP	C	TCGA-HC-7232-01A-11D-2114-08	58076721	183901338	14121092	11	9582											
AHSG	197	broad.mit.edu	37	chr3	186338454	186338454	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ggacccagatgcacctccgtCccctccacttggcgcacctg	6	7	9	19	2	0	1	0	0	0	1	3	2	3	2	7	2	1	2	7	2	0	1			TCGA-HC-7232-01A-11D-2114-08	TCGA-HC-7232-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82d7dc1-f6b3-4474-93bd-9bfbefe30139	1c5be2f0-5804-4689-903c-022227fc964e	g.chr3:186338454C>T	ENST00000273784.5	+	7	918	c.842C>T	c.(841-843)tCc>tTc	p.S281F	AHSG_ENST00000411641.2_Missense_Mutation_p.S280F	NM_001622.2	NP_001613.2	P02765	FETUA_HUMAN	alpha-2-HS-glycoprotein	280					acute-phase response (GO:0006953)|negative regulation of bone mineralization (GO:0030502)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of phosphorylation (GO:0042326)|ossification (GO:0001503)|pinocytosis (GO:0006907)|positive regulation of phagocytosis (GO:0050766)|regulation of bone mineralization (GO:0030500)|regulation of inflammatory response (GO:0050727)|skeletal system development (GO:0001501)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	cysteine-type endopeptidase inhibitor activity (GO:0004869)|kinase inhibitor activity (GO:0019210)			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(15)|prostate(2)|stomach(1)	22	all_cancers(143;3.64e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;3.27e-20)	GBM - Glioblastoma multiforme(93;0.0463)		GCACCTCCGTCCCCTCCACTT	0.627																																						ENST00000411641.2																			0				central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(15)|prostate(2)|stomach(1)	22						c.(838-840)tCc>tTc		alpha-2-HS-glycoprotein							114	118	117					3																	186338454		2203	4300	6503	SO:0001583	missense	197				acute-phase response|negative regulation of bone mineralization|negative regulation of insulin receptor signaling pathway|pinocytosis|positive regulation of phagocytosis|regulation of inflammatory response|skeletal system development	extracellular space	cysteine-type endopeptidase inhibitor activity|protein binding	g.chr3:186338454C>T	D67013, M16961	CCDS3278.1	3q27.3	2006-02-22			ENSG00000145192	ENSG00000145192			349	protein-coding gene	gene with protein product		138680				9322749, 7736783	Standard	NM_001622		Approved	FETUA, A2HS, HSGA	uc003fqk.4	P02765	OTTHUMG00000156605	ENST00000273784.5:c.842C>T	3.37:g.186338454C>T	ENSP00000273784:p.Ser281Phe					AHSG_ENST00000273784.5_Missense_Mutation_p.S281F	p.S280F			P02765	FETUA_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;3.27e-20)	GBM - Glioblastoma multiforme(93;0.0463)	7	1058	+	all_cancers(143;3.64e-12)|Ovarian(172;0.0339)		280					A8K9N6|B2R7G1|O14961|O14962|Q9P152	Missense_Mutation	SNP	ENST00000273784.5	37	c.839C>T		.	.	.	.	.	.	.	.	.	.	c	14.13	2.444277	0.43429	.	.	ENSG00000145192	ENST00000411641;ENST00000541510;ENST00000273784	T;T	0.05382	3.45;3.45	5.5	1.58	0.23477	.	1.577980	0.03211	N	0.176208	T	0.11239	0.0274	L	0.50333	1.59	0.09310	N	1	P;D;P	0.53151	0.956;0.958;0.883	P;P;B	0.48654	0.585;0.558;0.438	T	0.17319	-1.0373	10	0.56958	D	0.05	.	4.7736	0.13167	0.0:0.5828:0.1574:0.2598	.	346;280;281	F5H0Q5;P02765;C9JV77	.;FETUA_HUMAN;.	F	280;346;281	ENSP00000393887:S280F;ENSP00000273784:S281F	ENSP00000273784:S281F	S	+	2	0	AHSG	187821148	0.000000	0.05858	0.002000	0.10522	0.003000	0.03518	-0.191000	0.09601	0.343000	0.23821	-0.140000	0.14226	TCC		0.627	AHSG-002	NOVEL	basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000344762.1	NM_001622		43	163	0	0	0	0.870114	0	43	163					T	186338454	C	T	186338454	3	4	208	1	0	0	0	0	1	0	0	0	420	855	30	3	865	3	AHSG	3	186338454	Missense_Mutation	SNP	C	TCGA-HC-7232-01A-11D-2114-08	2437116	186338454	11683976	12	9583											
CCNG2	901	broad.mit.edu	37	chr4	78082099	78082099	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttttgcacttataccatactAttatactttgtcatacttca	11	19	2	9	0	2	0	2	0	0	0	2	0	2	0	1	0	5	1	1	0	7	11			TCGA-HC-7232-01A-11D-2114-08	TCGA-HC-7232-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82d7dc1-f6b3-4474-93bd-9bfbefe30139	1c5be2f0-5804-4689-903c-022227fc964e	g.chr4:78082099A>G	ENST00000316355.5	+	4	858	c.502A>G	c.(502-504)Att>Gtt	p.I168V	CCNG2_ENST00000354403.5_Missense_Mutation_p.I168V|CCNG2_ENST00000395640.1_Missense_Mutation_p.I168V|CCNG2_ENST00000502280.1_Missense_Mutation_p.I168V|CCNG2_ENST00000497512.1_3'UTR|CCNG2_ENST00000509972.1_Missense_Mutation_p.I168V	NM_004354.2	NP_004345.1	Q16589	CCNG2_HUMAN	cyclin G2	168					cell cycle checkpoint (GO:0000075)|mitotic nuclear division (GO:0007067)|regulation of cell cycle (GO:0051726)	cytoplasm (GO:0005737)				breast(1)|kidney(2)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	10						ATACCATACTATTATACTTTG	0.313																																						ENST00000316355.5																			0				breast(1)|kidney(2)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	10						c.(502-504)Att>Gtt		cyclin G2							78	79	79					4																	78082099		2202	4298	6500	SO:0001583	missense	901				cell cycle checkpoint|cell division|mitosis	cytoplasm		g.chr4:78082099A>G	BC032518	CCDS3581.1	4q21.22	2009-05-07			ENSG00000138764	ENSG00000138764			1593	protein-coding gene	gene with protein product		603203				8806701	Standard	NM_004354		Approved		uc003hkq.4	Q16589	OTTHUMG00000130100	ENST00000316355.5:c.502A>G	4.37:g.78082099A>G	ENSP00000315743:p.Ile168Val					CCNG2_ENST00000395640.1_Missense_Mutation_p.I168V|CCNG2_ENST00000497512.1_3'UTR|CCNG2_ENST00000509972.1_Missense_Mutation_p.I168V|CCNG2_ENST00000502280.1_Missense_Mutation_p.I168V|CCNG2_ENST00000354403.5_Missense_Mutation_p.I168V	p.I168V	NM_004354.2	NP_004345.1	Q16589	CCNG2_HUMAN			4	858	+			168					B4DF25|Q6FGA7|Q6FGC6	Missense_Mutation	SNP	ENST00000316355.5	37	c.502A>G	CCDS3581.1	.	.	.	.	.	.	.	.	.	.	A	12.26	1.885015	0.33255	.	.	ENSG00000138764	ENST00000316355;ENST00000354403;ENST00000502280;ENST00000395640;ENST00000509972	T;T;T;T;T	0.31247	1.5;1.5;1.5;1.5;1.5	5.82	5.82	0.92795	.	0.181068	0.64402	D	0.000016	T	0.21841	0.0526	L	0.27053	0.805	0.43476	D	0.995694	B;B	0.06786	0.001;0.001	B;B	0.06405	0.002;0.001	T	0.04855	-1.0922	10	0.37606	T	0.19	-11.084	10.5119	0.44866	0.9282:0.0:0.0718:0.0	.	168;168	B4DF25;Q16589	.;CCNG2_HUMAN	V	168	ENSP00000315743:I168V;ENSP00000346379:I168V;ENSP00000424665:I168V;ENSP00000379002:I168V;ENSP00000426476:I168V	ENSP00000315743:I168V	I	+	1	0	CCNG2	78301123	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	4.180000	0.58296	2.225000	0.72522	0.533000	0.62120	ATT		0.313	CCNG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252404.3	NM_004354		9	48	0	0	0	0.361761	0	9	48					G	78082099	A	G	78082099	3	3	208	1	0	0	0	0	1	0	0	0	2924	449	16	4	512	4	CCNG2	4	78082099	Missense_Mutation	SNP	A	TCGA-HC-7232-01A-11D-2114-08		78082099	113072177	13	9584											
TRPC7	57113	broad.mit.edu	37	chr5	135692511	135692511	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtcgtggggccgctcgatgcGggcgcccttgagcagcagga	5	6	18	12	5	0	1	0	1	0	0	2	3	0	2	2	4	3	3	2	4	0	1			TCGA-HC-7232-01A-11D-2114-08	TCGA-HC-7232-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82d7dc1-f6b3-4474-93bd-9bfbefe30139	1c5be2f0-5804-4689-903c-022227fc964e	g.chr5:135692511G>A	ENST00000513104.1	-	2	847	c.565C>T	c.(565-567)Cgc>Tgc	p.R189C	TRPC7_ENST00000426057.2_Missense_Mutation_p.R189C|TRPC7_ENST00000355180.3_Missense_Mutation_p.R189C	NM_020389.2	NP_065122.1	Q9HCX4	TRPC7_HUMAN	transient receptor potential cation channel, subfamily C, member 7	189					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|manganese ion transport (GO:0006828)|platelet activation (GO:0030168)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3)	46			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			CGCTCGATGCGGGCGCCCTTG	0.622																																						ENST00000513104.1																			0				NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3)	46						c.(565-567)Cgc>Tgc		transient receptor potential cation channel, subfamily C, member 7							90	98	95					5																	135692511		2198	4293	6491	SO:0001583	missense	57113				axon guidance|platelet activation	integral to membrane|plasma membrane	calcium channel activity|protein binding	g.chr5:135692511G>A	AJ272034	CCDS47267.1, CCDS47267.2, CCDS54905.1, CCDS54906.1	5q31.2	2011-12-14			ENSG00000069018	ENSG00000069018		"Voltage-gated ion channels / Transient receptor potential cation channels"	20754	protein-coding gene	gene with protein product						11805119, 16382100	Standard	NM_020389		Approved		uc003lbn.2	Q9HCX4	OTTHUMG00000162035	ENST00000513104.1:c.565C>T	5.37:g.135692511G>A	ENSP00000426070:p.Arg189Cys					TRPC7_ENST00000426057.2_Missense_Mutation_p.R189C|TRPC7_ENST00000355180.3_Missense_Mutation_p.R189C	p.R189C	NM_020389.2	NP_065122.1	Q9HCX4	TRPC7_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)		2	847	-			189					A1A4Z4|F5H5U9|Q70T26|Q8IWP7	Missense_Mutation	SNP	ENST00000513104.1	37	c.565C>T	CCDS47267.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.41|15.41	2.826527|2.826527	0.50739|0.50739	.|.	.|.	ENSG00000069018|ENSG00000069018	ENST00000352189;ENST00000378459;ENST00000502753|ENST00000355180;ENST00000426057;ENST00000513104;ENST00000265193	.|T;T;T	.|0.71103	.|-0.54;-0.54;-0.54	5.26|5.26	5.26|5.26	0.73747|0.73747	.|Ankyrin repeat-containing domain (2);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.80166|0.80166	0.4573|0.4573	L|L	0.43554|0.43554	1.36|1.36	0.58432|0.58432	D|D	0.999999|0.999999	.|D;P;B;B	.|0.89917	.|1.0;0.586;0.126;0.126	.|D;B;B;B	.|0.75020	.|0.985;0.072;0.032;0.049	T|T	0.80652|0.80652	-0.1287|-0.1287	5|10	.|0.59425	.|D	.|0.04	-15.1349|-15.1349	19.0783|19.0783	0.93171|0.93171	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|189;189;189;189	.|Q8IWP7;F5H5U9;Q70T25;Q9HCX4	.|.;.;.;TRPC7_HUMAN	L|C	188|189	.|ENSP00000347312:R189C;ENSP00000441628:R189C;ENSP00000426070:R189C	.|ENSP00000265193:R189C	P|R	-|-	2|1	0|0	TRPC7|TRPC7	135720410|135720410	1.000000|1.000000	0.71417|0.71417	0.961000|0.961000	0.40146|0.40146	0.479000|0.479000	0.33129|0.33129	6.471000|6.471000	0.73562|0.73562	2.731000|2.731000	0.93534|0.93534	0.650000|0.650000	0.86243|0.86243	CCG|CGC		0.622	TRPC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366975.1	NM_020389		24	94	0	0	0	0.681144	0	24	94					A	135692511	G	A	135692511	3	1	208	1	0	0	0	0	1	0	0	0	16581	1116	39	2	2067	2	TRPC7	5	135692511	Missense_Mutation	SNP	G	TCGA-HC-7232-01A-11D-2114-08		135692511	45222749	14	9585											
N4BP3	23138	broad.mit.edu	37	chr5	177546687	177546687	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agctgcgggcggcacttgccGggtctcggggctcccgccag	3	6	17	15	5	1	0	0	0	1	0	3	0	2	0	3	5	3	3	3	5	0	1	rs530201685		TCGA-HC-7232-01A-11D-2114-08	TCGA-HC-7232-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82d7dc1-f6b3-4474-93bd-9bfbefe30139	1c5be2f0-5804-4689-903c-022227fc964e	g.chr5:177546687G>A	ENST00000274605.5	+	2	462	c.103G>A	c.(103-105)Ggg>Agg	p.G35R		NM_015111.1	NP_055926.1	O15049	N4BP3_HUMAN	NEDD4 binding protein 3	35						cytoplasmic vesicle (GO:0031410)|membrane (GO:0016020)				breast(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(1)|skin(1)	9	all_cancers(89;0.00294)|Renal(175;0.000269)|Lung NSC(126;0.00858)|all_lung(126;0.0139)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GGCACTTGCCGGGTCTCGGGG	0.677													G|||	1	0.000199681	0	0	5008	,	,		12281	0		0.001	False		,,,				2504	0					ENST00000274605.5																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(1)|skin(1)	9						c.(103-105)Ggg>Agg		NEDD4 binding protein 3							35	42	40					5																	177546687		2203	4300	6503	SO:0001583	missense	23138					cytoplasmic vesicle membrane		g.chr5:177546687G>A	AB002339	CCDS34307.1	5q35.3	2012-05-17				ENSG00000145911			29852	protein-coding gene	gene with protein product						9205841, 11717310	Standard	XM_006714834		Approved	LZTS4	uc003mik.1	O15049		ENST00000274605.5:c.103G>A	5.37:g.177546687G>A	ENSP00000274605:p.Gly35Arg						p.G35R	NM_015111.1	NP_055926.1	O15049	N4BP3_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		2	462	+	all_cancers(89;0.00294)|Renal(175;0.000269)|Lung NSC(126;0.00858)|all_lung(126;0.0139)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	35					B4DIL3|D3DWP3|Q6ZSQ6|Q7Z6I3	Missense_Mutation	SNP	ENST00000274605.5	37	c.103G>A	CCDS34307.1	.	.	.	.	.	.	.	.	.	.	G	9.210	1.030685	0.19512	.	.	ENSG00000145911	ENST00000274605	T	0.00540	6.7	5.48	4.42	0.53409	.	0.328337	0.30695	N	0.009063	T	0.00496	0.0016	L	0.38175	1.15	0.09310	N	0.999995	B	0.17465	0.022	B	0.10450	0.005	T	0.49031	-0.8981	10	0.66056	D	0.02	-55.7299	7.7937	0.29135	0.0984:0.1693:0.7324:0.0	.	35	O15049	N4BP3_HUMAN	R	35	ENSP00000274605:G35R	ENSP00000274605:G35R	G	+	1	0	N4BP3	177479293	0.993000	0.37304	0.905000	0.35620	0.088000	0.18126	2.186000	0.42593	2.578000	0.87016	0.491000	0.48974	GGG		0.677	N4BP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373552.2	NM_015111		4	68	0	0	0	0.217242	0	4	68					A	177546687	G	A	177546687	3	1	208	1	0	0	0	0	1	0	0	0	10113	1116	39	2	105	2	N4BP3	5	177546687	Missense_Mutation	SNP	G	TCGA-HC-7232-01A-11D-2114-08	41854176	177546687	3368573	15	9586											
TRIM10	10107	broad.mit.edu	37	chr6	30121516	30121516	+	3'UTR	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggtggtgagcagaactggcaGcagcctgagtccccaggtac	9	6	15	11	0	0	3	0	2	0	1	1	3	1	3	3	4	5	4	3	4	2	1			TCGA-HC-7232-01A-11D-2114-08	TCGA-HC-7232-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82d7dc1-f6b3-4474-93bd-9bfbefe30139	1c5be2f0-5804-4689-903c-022227fc964e	g.chr6:30121516G>A	ENST00000449742.2	-	0	1751				TRIM10_ENST00000376704.3_Silent_p.C379C	NM_006778.3	NP_006769.2	Q9UDY6	TRI10_HUMAN	tripartite motif containing 10						erythrocyte differentiation (GO:0030218)|innate immune response (GO:0045087)|negative regulation of viral entry into host cell (GO:0046597)	cytoplasm (GO:0005737)	zinc ion binding (GO:0008270)			ovary(1)	1						AGAACTGGCAGCAGCCTGAGT	0.547																																						ENST00000376704.3																			0				ovary(1)	1						c.(1135-1137)tgC>tgT		tripartite motif containing 10							70	58	62					6																	30121516		1511	2709	4220	SO:0001624	3_prime_UTR_variant	10107					cytoplasm	zinc ion binding	g.chr6:30121516G>A	Y07829	CCDS4676.1, CCDS34375.1	6p21.3	2013-01-09	2011-01-25	2001-11-23	ENSG00000204613	ENSG00000204613		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	10072	protein-coding gene	gene with protein product		605701	"tripartite motif-containing 10"	RNF9		9271628, 10207104	Standard	NM_052828		Approved	RFB30, HERF1	uc003npo.3	Q9UDY6	OTTHUMG00000031295	ENST00000449742.2:c.*230C>T	6.37:g.30121516G>A						TRIM10_ENST00000449742.2_3'UTR	p.C379C	NM_052828.2	NP_439893.2	Q9UDY6	TRI10_HUMAN			8	1212	-			0			B30.2/SPRY.		A6NF84|Q5SRJ5|Q5SRK8|Q86Z08|Q96QB6|Q9C023|Q9C024	Silent	SNP	ENST00000449742.2	37	c.1137C>T	CCDS34375.1																																																																																				0.547	TRIM10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076634.1			3	44	0	0	0	0.150653	0	3	44					A	30121516	G	A	30121516	1	1	208	0	1	0	0	0	0	0	0	0	16483	963	34	3		3	TRIM10	6	30121516	3'UTR	SNP	G	TCGA-HC-7232-01A-11D-2114-08		30121516	140993551	16	9587											
TNXB	7148	broad.mit.edu	37	chr6	32011583	32011583	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaagcctcggaccgagaccaCggtcacctcatagcgagcgc	11	4	11	15	5	2	1	2	0	0	1	3	4	2	2	4	2	3	0	4	2	2	1	rs550641852		TCGA-HC-7232-01A-11D-2114-08	TCGA-HC-7232-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82d7dc1-f6b3-4474-93bd-9bfbefe30139	1c5be2f0-5804-4689-903c-022227fc964e	g.chr6:32011583C>T	ENST00000375244.3	-	35	11674	c.11473G>A	c.(11473-11475)Gtg>Atg	p.V3825M	TNXB_ENST00000375247.2_Missense_Mutation_p.V3823M|TNXB_ENST00000451343.1_Missense_Mutation_p.V254M			P22105	TENX_HUMAN	tenascin XB	3870	Fibronectin type-III 30. {ECO:0000255|PROSITE-ProRule:PRU00316}.				actin cytoskeleton organization (GO:0030036)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|collagen fibril organization (GO:0030199)|collagen metabolic process (GO:0032963)|elastic fiber assembly (GO:0048251)|extracellular fibril organization (GO:0043206)|fatty acid metabolic process (GO:0006631)|regulation of JUN kinase activity (GO:0043506)|single organismal cell-cell adhesion (GO:0016337)|triglyceride metabolic process (GO:0006641)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						ACCGAGACCACGGTCACCTCA	0.627																																						ENST00000375244.3																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						c.(11473-11475)Gtg>Atg		tenascin XB							96	117	109					6																	32011583		1511	2709	4220	SO:0001583	missense	7148				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding	g.chr6:32011583C>T	X71923	CCDS4736.1	6p21.3	2013-02-11			ENSG00000168477	ENSG00000168477		"Fibrinogen C domain containing", "Fibronectin type III domain containing"	11976	protein-coding gene	gene with protein product		600985		TNXB1, TNXB2		8530023	Standard	NM_019105		Approved	TNXBS, XBS, XB	uc021yvf.2	P22105	OTTHUMG00000031088	ENST00000375244.3:c.11473G>A	6.37:g.32011583C>T	ENSP00000364393:p.Val3825Met					TNXB_ENST00000451343.1_Missense_Mutation_p.V254M|TNXB_ENST00000375247.2_Missense_Mutation_p.V3823M	p.V3825M			P22105	TENX_HUMAN			35	11674	-			3870			Fibronectin type-III 30.		P78530|P78531|Q08424|Q08AM0|Q08AM1|Q59GU7|Q5SQD3|Q5ST74|Q7L8Q4|Q8N4R1|Q9NPK9|Q9UC10|Q9UC11|Q9UC12|Q9UC13|Q9UMG7	Missense_Mutation	SNP	ENST00000375244.3	37	c.11473G>A		.	.	.	.	.	.	.	.	.	.	C	17.07	3.294061	0.60086	.	.	ENSG00000168477	ENST00000375244;ENST00000451343;ENST00000375247	T;T;T	0.74106	-0.81;-0.81;-0.81	5.91	5.04	0.67666	.	0.000000	0.53938	D	0.000056	D	0.83876	0.5349	M	0.91818	3.245	0.43462	D	0.995663	D	0.59357	0.985	P	0.56398	0.797	D	0.88337	0.2972	10	0.87932	D	0	.	16.1699	0.81801	0.0:0.8662:0.1338:0.0	.	3823	P22105-3	.	M	3825;254;3823	ENSP00000364393:V3825M;ENSP00000407685:V254M;ENSP00000364396:V3823M	ENSP00000364393:V3825M	V	-	1	0	TNXB	32119562	0.858000	0.29795	0.897000	0.35233	0.153000	0.21895	1.619000	0.36965	1.514000	0.48869	-0.150000	0.13652	GTG		0.627	TNXB-001	PUTATIVE	not_organism_supported|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000268927.2	NM_019105		24	129	0	0	0	0.693898	0	24	129					T	32011583	C	T	32011583	3	4	208	1	0	0	0	0	1	0	0	0	16343	536	19	1	3286	1	TNXB	6	32011583	Missense_Mutation	SNP	C	TCGA-HC-7232-01A-11D-2114-08	1890067	32011583	139103484	17	9588											
C6orf138	442213	broad.mit.edu	37	chr6	47846113	47846113	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctctctcctttcgcttggCacgtttctttttcttgtggt	1	21	7	12	2	4	0	0	0	4	0	7	0	4	0	1	2	0	3	1	2	0	6			TCGA-HC-7232-01A-11D-2114-08	TCGA-HC-7232-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82d7dc1-f6b3-4474-93bd-9bfbefe30139	1c5be2f0-5804-4689-903c-022227fc964e	g.chr6:47846113C>T	ENST00000339488.4	-	3	2500	c.2467G>A	c.(2467-2469)Gcc>Acc	p.A823T		NM_001013732.3	NP_001013754.3	Q6ZW05	PTHD4_HUMAN	patched domain containing 4	823						integral component of membrane (GO:0016021)	hedgehog receptor activity (GO:0008158)										TTTCGCTTGGCACGTTTCTTT	0.438																																						ENST00000339488.4																			0											c.(2467-2469)Gcc>Acc		patched domain containing 4							138	139	139					6																	47846113		2203	4300	6503	SO:0001583	missense	442213					integral to membrane	hedgehog receptor activity	g.chr6:47846113C>T		CCDS34473.2	6p12.3	2012-02-06	2012-02-06	2012-02-06	ENSG00000244694	ENSG00000244694			21345	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 138"	C6orf138			Standard	NM_001013732		Approved	dJ402H5.2, FLJ41841	uc011dwm.2	Q6ZW05	OTTHUMG00000150404	ENST00000339488.4:c.2467G>A	6.37:g.47846113C>T	ENSP00000341914:p.Ala823Thr						p.A823T	NM_001013732.3	NP_001013754.3	Q6ZW05	CF138_HUMAN			3	2500	-			823					B0QZ29|B4DRK3|Q5T884	Missense_Mutation	SNP	ENST00000339488.4	37	c.2467G>A	CCDS34473.2	.	.	.	.	.	.	.	.	.	.	C	15.09	2.731491	0.48939	.	.	ENSG00000244694	ENST00000339488	D	0.92099	-2.97	6.16	5.29	0.74685	.	0.180038	0.47852	D	0.000210	T	0.79094	0.4388	N	0.14661	0.345	0.80722	D	1	P	0.37525	0.598	B	0.39771	0.309	T	0.80564	-0.1326	10	0.12430	T	0.62	.	17.6102	0.88050	0.0:0.8767:0.1233:0.0	.	823	Q6ZW05	CF138_HUMAN	T	823	ENSP00000341914:A823T	ENSP00000341914:A823T	A	-	1	0	C6orf138	47954072	1.000000	0.71417	0.992000	0.48379	0.993000	0.82548	7.175000	0.77632	1.593000	0.50029	0.650000	0.86243	GCC		0.438	PTCHD4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317987.2	NM_001013732		26	67	0	0	0	0.717897	0	26	67					T	47846113	C	T	47846113	3	4	208	1	0	0	0	0	1	0	0	0	2332	710	25	3	77	3	C6orf138	6	47846113	Missense_Mutation	SNP	C	TCGA-HC-7232-01A-11D-2114-08	15834530	47846113	123268954	18	9589											
PTPRK	5796	broad.mit.edu	37	chr6	128294293	128294293	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagaacatgccacttcgcccGccaccatttctgaaagcaaa	13	7	6	15	2	1	2	0	1	1	1	2	2	1	2	4	0	3	1	4	0	3	2	rs375248533		TCGA-HC-7232-01A-11D-2114-08	TCGA-HC-7232-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82d7dc1-f6b3-4474-93bd-9bfbefe30139	1c5be2f0-5804-4689-903c-022227fc964e	g.chr6:128294293G>A	ENST00000368215.3	-	29	4139	c.4140C>T	c.(4138-4140)ggC>ggT	p.G1380G	PTPRK_ENST00000368210.3_Silent_p.G1399G|PTPRK_ENST00000368207.3_Silent_p.G1413G|PTPRK_ENST00000368213.5_Silent_p.G1387G|PTPRK_ENST00000368227.3_Silent_p.G1398G|PTPRK_ENST00000532331.1_Silent_p.G1403G|PTPRK_ENST00000368226.4_Silent_p.G1381G			Q15262	PTPRK_HUMAN	protein tyrosine phosphatase, receptor type, K	1380	Tyrosine-protein phosphatase 2. {ECO:0000255|PROSITE-ProRule:PRU00160}.				cell adhesion (GO:0007155)|cell migration (GO:0016477)|cellular response to reactive oxygen species (GO:0034614)|cellular response to UV (GO:0034644)|focal adhesion assembly (GO:0048041)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of keratinocyte proliferation (GO:0010839)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|protein localization to cell surface (GO:0034394)|signal transduction (GO:0007165)|transforming growth factor beta receptor signaling pathway (GO:0007179)	axon (GO:0030424)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|leading edge membrane (GO:0031256)|neuronal cell body (GO:0043025)|photoreceptor outer segment (GO:0001750)	beta-catenin binding (GO:0008013)|gamma-catenin binding (GO:0045295)|protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)		PTPRK/RSPO3(10)	autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	72				all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)		CACTTCGCCCGCCACCATTTC	0.428																																						ENST00000368227.3																		PTPRK/RSPO3(10)	0				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	72						c.(4192-4194)ggC>ggT		protein tyrosine phosphatase, receptor type, K		G	,	0,4406		0,0,2203	90	90	90		4161,4143	-11	0.2	6		90	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	PTPRK	NM_001135648.1,NM_002844.3	,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,	1387/1447,1381/1441	128294293	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	5796				cell migration|cellular response to reactive oxygen species|cellular response to UV|focal adhesion assembly|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of keratinocyte proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transforming growth factor beta receptor signaling pathway	adherens junction|cell surface|cell-cell junction|integral to plasma membrane|leading edge membrane	beta-catenin binding|gamma-catenin binding|protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr6:128294293G>A	L77886	CCDS5137.1, CCDS47473.1, CCDS75517.1	6q22.2-q22.3	2013-02-11			ENSG00000152894	ENSG00000152894		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	9674	protein-coding gene	gene with protein product		602545				9047348, 8663237	Standard	NM_002844		Approved	R-PTP-kappa	uc010kfc.3	Q15262	OTTHUMG00000015536	ENST00000368215.3:c.4140C>T	6.37:g.128294293G>A						PTPRK_ENST00000368215.3_Silent_p.G1380G|PTPRK_ENST00000368207.3_Silent_p.G1413G|PTPRK_ENST00000368210.3_Silent_p.G1399G|PTPRK_ENST00000368213.5_Silent_p.G1387G|PTPRK_ENST00000368226.4_Silent_p.G1381G|PTPRK_ENST00000532331.1_Silent_p.G1403G	p.G1398G			Q15262	PTPRK_HUMAN		all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)	30	4560	-			1380			Tyrosine-protein phosphatase 2.		B2RTQ8|B7ZMG0|Q14763|Q5TG10|Q5TG11	Silent	SNP	ENST00000368215.3	37	c.4194C>T																																																																																					0.428	PTPRK-005	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000042163.1			24	56	0	0	0	0.740014	0	24	56					A	128294293	G	A	128294293	2	1	208	1	0	0	0	0	0	0	0	1	12805	1074	38	1		1	PTPRK	6	128294293	Silent	SNP	G	TCGA-HC-7232-01A-11D-2114-08	80448180	128294293	42820774	19	9590											
ZCWPW1	55063	broad.mit.edu	37	chr7	100014780	100014780	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gggctgggcacaagaagtctCtgcaaaatcaaggccagatc	13	6	12	10	0	2	2	1	0	1	2	4	2	2	2	1	3	1	3	1	3	5	0			TCGA-HC-7232-01A-11D-2114-08	TCGA-HC-7232-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82d7dc1-f6b3-4474-93bd-9bfbefe30139	1c5be2f0-5804-4689-903c-022227fc964e	g.chr7:100014780C>G	ENST00000398027.2	-	6	635	c.388G>C	c.(388-390)Gag>Cag	p.E130Q	ZCWPW1_ENST00000360951.4_Missense_Mutation_p.E130Q|ZCWPW1_ENST00000490721.1_Missense_Mutation_p.E9Q|ZCWPW1_ENST00000324725.6_Missense_Mutation_p.E9Q	NM_017984.4	NP_060454.3	Q9H0M4	ZCPW1_HUMAN	zinc finger, CW type with PWWP domain 1	130							zinc ion binding (GO:0008270)			breast(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)	16	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CAAGAAGTCTCTGCAAAATCA	0.413																																						ENST00000398027.2																			0				breast(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)	16						c.(388-390)Gag>Cag		zinc finger, CW type with PWWP domain 1							115	105	108					7																	100014780		1872	4100	5972	SO:0001583	missense	55063						zinc ion binding	g.chr7:100014780C>G	AK000919	CCDS43623.1, CCDS59067.1	7q22.1	2012-02-10	2004-11-03		ENSG00000078487	ENSG00000078487			23486	protein-coding gene	gene with protein product			"zinc finger, CW-type with PWWP domain 1"			11230166, 14607086, 20826339	Standard	NM_017984		Approved	FLJ10057, DKFZp434N0510, ZCW1	uc003uut.4	Q9H0M4	OTTHUMG00000159537	ENST00000398027.2:c.388G>C	7.37:g.100014780C>G	ENSP00000381109:p.Glu130Gln					ZCWPW1_ENST00000360951.4_Missense_Mutation_p.E130Q|ZCWPW1_ENST00000490721.1_Missense_Mutation_p.E9Q|ZCWPW1_ENST00000324725.6_Missense_Mutation_p.E9Q	p.E130Q	NM_017984.4	NP_060454.3	Q9H0M4	ZCPW1_HUMAN			6	635	-	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		130					A8MVF5|B4DUQ2|Q8NA98|Q9BUD0|Q9NWF7	Missense_Mutation	SNP	ENST00000398027.2	37	c.388G>C	CCDS43623.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.016793	0.75161	.	.	ENSG00000078487	ENST00000398027;ENST00000490721;ENST00000360951;ENST00000324725;ENST00000379559	T;T;T;T	0.60672	0.42;0.17;0.41;0.17	4.48	4.48	0.54585	.	0.214568	0.23474	N	0.047789	T	0.69602	0.3129	L	0.54323	1.7	0.26936	N	0.966357	D;D;D;D;D	0.89917	0.999;1.0;0.998;1.0;0.971	D;D;P;D;P	0.83275	0.994;0.996;0.796;0.996;0.725	T	0.61068	-0.7137	9	.	.	.	-12.9088	12.8291	0.57736	0.0:1.0:0.0:0.0	.	130;90;131;130;9	B4DUQ2;B4DXS7;C9J435;Q9H0M4;Q9H0M4-4	.;.;.;ZCPW1_HUMAN;.	Q	130;9;130;9;131	ENSP00000381109:E130Q;ENSP00000419187:E9Q;ENSP00000354210:E130Q;ENSP00000314880:E9Q	.	E	-	1	0	ZCWPW1	99852716	1.000000	0.71417	0.998000	0.56505	0.983000	0.72400	3.295000	0.51794	2.476000	0.83614	0.643000	0.83706	GAG		0.413	ZCWPW1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356083.1	NM_017984		20	57	0	0	0	0.624587	0	20	57					G	100014780	C	G	100014780	3	3	208	1	0	0	0	0	1	0	0	0	17594	922	32	5	1610	5	ZCWPW1	7	100014780	Missense_Mutation	SNP	C	TCGA-HC-7232-01A-11D-2114-08		100014780	59123883	20	9591											
PLAT	5327	broad.mit.edu	37	chr8	42045029	42045029	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgcactcggcgccactctcCgctgtgctccacgtgcccct	3	9	10	19	4	1	0	0	0	1	0	4	0	2	0	5	1	3	3	5	1	0	0	rs146968391		TCGA-HC-7232-01A-11D-2114-08	TCGA-HC-7232-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82d7dc1-f6b3-4474-93bd-9bfbefe30139	1c5be2f0-5804-4689-903c-022227fc964e	g.chr8:42045029C>A	ENST00000220809.4	-	6	682	c.426G>T	c.(424-426)gcG>gcT	p.A142A	PLAT_ENST00000429089.2_Silent_p.A142A|PLAT_ENST00000352041.3_Silent_p.A96A|PLAT_ENST00000270189.6_Silent_p.A142A|PLAT_ENST00000524009.1_Intron|PLAT_ENST00000519510.1_Intron|PLAT_ENST00000429710.2_Intron	NM_000930.3	NP_000921.1	P00750	TPA_HUMAN	plasminogen activator, tissue	142	Kringle 1. {ECO:0000255|PROSITE- ProRule:PRU00121}.				blood coagulation (GO:0007596)|cellular protein modification process (GO:0006464)|fibrinolysis (GO:0042730)|negative regulation of proteolysis (GO:0045861)|plasminogen activation (GO:0031639)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of ovulation (GO:0060279)|proteolysis (GO:0006508)|regulation of synaptic plasticity (GO:0048167)|response to cAMP (GO:0051591)|response to glucocorticoid (GO:0051384)|response to hypoxia (GO:0001666)|response to peptide hormone (GO:0043434)|smooth muscle cell migration (GO:0014909)|synaptic transmission, glutamatergic (GO:0035249)	apical part of cell (GO:0045177)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|secretory granule (GO:0030141)|synapse (GO:0045202)	serine-type endopeptidase activity (GO:0004252)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(10)|skin(1)|soft_tissue(1)|urinary_tract(1)	27	all_cancers(6;3.84e-26)|all_epithelial(6;9.61e-28)|all_lung(13;7.2e-13)|Lung NSC(13;1.18e-11)|Ovarian(28;0.00438)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211)	all_lung(54;0.000378)|Lung NSC(58;0.00145)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	BRCA - Breast invasive adenocarcinoma(8;5.23e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00135)|Colorectal(10;0.00165)|Lung(22;0.00467)|COAD - Colon adenocarcinoma(11;0.0171)|LUSC - Lung squamous cell carcinoma(45;0.024)		Aminocaproic Acid(DB00513)|Ibuprofen(DB01050)|Iloprost(DB01088)|Urokinase(DB00013)	CGCCACTCTCCGCTGTGCTCC	0.657																																						ENST00000220809.4																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(10)|skin(1)|soft_tissue(1)|urinary_tract(1)	27						c.(424-426)gcG>gcT		plasminogen activator, tissue	Alteplase(DB00009)|Aminocaproic Acid(DB00513)|Anistreplase(DB00029)|Iloprost(DB01088)|Reteplase(DB00015)|Tenecteplase(DB00031)|Tranexamic Acid(DB00302)|Urokinase(DB00013)						51	44	46					8																	42045029		2203	4300	6503	SO:0001819	synonymous_variant	5327				blood coagulation|fibrinolysis|negative regulation of proteolysis|protein modification process|proteolysis	cell surface|cytoplasm|extracellular space	protein binding|serine-type endopeptidase activity	g.chr8:42045029C>A		CCDS6126.1, CCDS6127.1	8p11.21	2012-10-02			ENSG00000104368	ENSG00000104368			9051	protein-coding gene	gene with protein product		173370					Standard	NM_033011		Approved		uc003xos.2	P00750	OTTHUMG00000164072	ENST00000220809.4:c.426G>T	8.37:g.42045029C>A						PLAT_ENST00000429710.2_Intron|PLAT_ENST00000429089.2_Silent_p.A142A|PLAT_ENST00000524009.1_Intron|PLAT_ENST00000352041.3_Silent_p.A96A|PLAT_ENST00000519510.1_Intron|PLAT_ENST00000270189.6_Silent_p.A142A	p.A142A	NM_000930.3	NP_000921.1	P00750	TPA_HUMAN	BRCA - Breast invasive adenocarcinoma(8;5.23e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00135)|Colorectal(10;0.00165)|Lung(22;0.00467)|COAD - Colon adenocarcinoma(11;0.0171)|LUSC - Lung squamous cell carcinoma(45;0.024)		6	682	-	all_cancers(6;3.84e-26)|all_epithelial(6;9.61e-28)|all_lung(13;7.2e-13)|Lung NSC(13;1.18e-11)|Ovarian(28;0.00438)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211)	all_lung(54;0.000378)|Lung NSC(58;0.00145)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	142			Kringle 1.		A8K022|B2R8E8|Q15103|Q503B0|Q6PJA5|Q7Z7N2|Q86YK8|Q9BU99|Q9BZW1	Silent	SNP	ENST00000220809.4	37	c.426G>T	CCDS6126.1																																																																																				0.657	PLAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377100.1	NM_000930		15	31	1	0	6.49762e-13	0.539581	7.11644e-13	15	31					A	42045029	C	A	42045029	2	1	208	1	0	0	0	0	0	0	0	1	12021	639	23	5		5	PLAT	8	42045029	Silent	SNP	C	TCGA-HC-7232-01A-11D-2114-08		42045029	104318993	21	9592											
WDR85	92715	broad.mit.edu	37	chr9	140450002	140450002	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaaggaccacgagggggcccGctgcagagaacggaagagca	14	1	16	10	3	0	2	0	0	0	2	0	6	0	4	2	4	3	3	2	4	3	0			TCGA-HC-7232-01A-11D-2114-08	TCGA-HC-7232-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82d7dc1-f6b3-4474-93bd-9bfbefe30139	1c5be2f0-5804-4689-903c-022227fc964e	g.chr9:140450002G>A	ENST00000277540.2	-	9	1205	c.1048C>T	c.(1048-1050)Cgg>Tgg	p.R350W	DPH7_ENST00000479650.1_5'UTR	NM_138778.2	NP_620133.1	Q9BTV6	DPH7_HUMAN	diphthamide biosynthesis 7	350					peptidyl-diphthamide biosynthetic process from peptidyl-histidine (GO:0017183)												GAGGGGGCCCGCTGCAGAGAA	0.597																																						ENST00000277540.2																			0											c.(1048-1050)Cgg>Tgg		diphthamide biosynthesis 7							66	69	68					9																	140450002		2203	4300	6503	SO:0001583	missense	92715							g.chr9:140450002G>A	AK075115	CCDS7047.1	9q34.3	2013-06-20	2013-06-20	2013-06-20	ENSG00000148399	ENSG00000148399		"WD repeat domain containing"	25199	protein-coding gene	gene with protein product		613210	"chromosome 9 open reading frame 112", "WD repeat domain 85"	C9orf112, WDR85		23486472	Standard	NM_138778		Approved	FLJ90634, RRT2	uc004cnk.1	Q9BTV6	OTTHUMG00000020991	ENST00000277540.2:c.1048C>T	9.37:g.140450002G>A	ENSP00000277540:p.Arg350Trp					DPH7_ENST00000479650.1_5'UTR	p.R350W	NM_138778.2	NP_620133.1					9	1205	-								Q96AB7	Missense_Mutation	SNP	ENST00000277540.2	37	c.1048C>T	CCDS7047.1	.	.	.	.	.	.	.	.	.	.	G	13.52	2.262318	0.39995	.	.	ENSG00000148399	ENST00000277540	T	0.67171	-0.25	5.31	2.35	0.29111	.	0.946696	0.08858	N	0.883519	T	0.44519	0.1297	N	0.08118	0	0.09310	N	1	P	0.48694	0.914	B	0.36989	0.238	T	0.23332	-1.0191	10	0.51188	T	0.08	.	11.0634	0.47961	0.0683:0.3568:0.5749:0.0	.	350	Q9BTV6	WDR85_HUMAN	W	350	ENSP00000277540:R350W	ENSP00000277540:R350W	R	-	1	2	WDR85	139569823	0.013000	0.17824	0.000000	0.03702	0.004000	0.04260	0.759000	0.26461	0.275000	0.22094	0.561000	0.74099	CGG		0.597	DPH7-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055350.1	NM_138778		3	86	0	0	0	0.150653	0	3	86					A	140450002	G	A	140450002	3	1	208	1	0	0	0	0	1	0	0	0	17330	1086	38	1	314	1	WDR85	9	140450002	Missense_Mutation	SNP	G	TCGA-HC-7232-01A-11D-2114-08		140450002	763429	22	9593											
OGDHL	55753	broad.mit.edu	37	chr10	50953438	50953438	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcggcaatcagcttgtctgcGtacttcttcagcacaggcac	8	11	9	13	2	4	0	2	0	2	0	5	0	4	0	0	2	4	5	0	2	2	4	rs564954722		TCGA-HC-7232-01A-11D-2114-08	TCGA-HC-7232-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82d7dc1-f6b3-4474-93bd-9bfbefe30139	1c5be2f0-5804-4689-903c-022227fc964e	g.chr10:50953438G>A	ENST00000374103.4	-	12	1666	c.1581C>T	c.(1579-1581)taC>taT	p.Y527Y	OGDHL_ENST00000419399.1_Silent_p.Y470Y|OGDHL_ENST00000432695.1_Silent_p.Y318Y	NM_018245.2	NP_060715.2	Q9ULD0	OGDHL_HUMAN	oxoglutarate dehydrogenase-like	527					glycolytic process (GO:0006096)|tricarboxylic acid cycle (GO:0006099)	mitochondrion (GO:0005739)	metal ion binding (GO:0046872)|oxoglutarate dehydrogenase (succinyl-transferring) activity (GO:0004591)|thiamine pyrophosphate binding (GO:0030976)			central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	61						GCTTGTCTGCGTACTTCTTCA	0.602																																						ENST00000374103.4																			0				central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	61						c.(1579-1581)taC>taT		oxoglutarate dehydrogenase-like							100	86	91					10																	50953438		2203	4300	6503	SO:0001819	synonymous_variant	55753				glycolysis	mitochondrial matrix	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding	g.chr10:50953438G>A	AK001713	CCDS7234.1, CCDS44390.1, CCDS44391.1	10q11.23	2013-09-20			ENSG00000197444	ENSG00000197444			25590	protein-coding gene	gene with protein product						10574462	Standard	NM_018245		Approved	FLJ10851	uc001jie.3	Q9ULD0	OTTHUMG00000018200	ENST00000374103.4:c.1581C>T	10.37:g.50953438G>A						OGDHL_ENST00000432695.1_Silent_p.Y318Y|OGDHL_ENST00000419399.1_Silent_p.Y470Y	p.Y527Y	NM_018245.2	NP_060715.2	Q9ULD0	OGDHL_HUMAN			12	1666	-			527					A8K2G1|B4DKG2|B4E193|Q8TAN9|Q9NVA0	Silent	SNP	ENST00000374103.4	37	c.1581C>T	CCDS7234.1																																																																																				0.602	OGDHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048007.1	NM_018245		5	53	0	0	0	0.217242	0	5	53					A	50953438	G	A	50953438	2	1	208	1	0	0	0	0	0	0	0	1	10840	1140	40	1		1	OGDHL	10	50953438	Silent	SNP	G	TCGA-HC-7232-01A-11D-2114-08		50953438	84581309	23	9594											
FAM190B	54462	broad.mit.edu	37	chr10	86132184	86132184	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ccccaaggaaaatgaaaaagCcttcagtaaaactgatgaat	19	7	7	8	0	1	3	1	3	0	0	1	4	1	4	3	1	2	1	3	1	8	2			TCGA-HC-7232-01A-11D-2114-08	TCGA-HC-7232-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82d7dc1-f6b3-4474-93bd-9bfbefe30139	1c5be2f0-5804-4689-903c-022227fc964e	g.chr10:86132184C>G	ENST00000224756.8	+	2	1561	c.1376C>G	c.(1375-1377)gCc>gGc	p.A459G	CCSER2_ENST00000372088.2_Missense_Mutation_p.A459G|CCSER2_ENST00000359979.4_Missense_Mutation_p.A459G	NM_001284243.1|NM_018999.2	NP_001271172.1|NP_061872.2	Q9H7U1	CCSE2_HUMAN	coiled-coil serine-rich protein 2	459					microtubule bundle formation (GO:0001578)	microtubule cytoskeleton (GO:0015630)											AATGAAAAAGCCTTCAGTAAA	0.328																																						ENST00000224756.8																			0											c.(1375-1377)gCc>gGc		coiled-coil serine-rich protein 2							82	92	89					10																	86132184		2203	4296	6499	SO:0001583	missense	54462							g.chr10:86132184C>G		CCDS31235.1, CCDS60582.1, CCDS60583.1, CCDS73159.1	10q23.1	2012-12-03	2012-12-03	2012-12-03	ENSG00000107771	ENSG00000107771			29197	protein-coding gene	gene with protein product			"KIAA1128", "family with sequence similarity 190, member B"	KIAA1128, FAM190B		10574461	Standard	XM_005269905		Approved		uc001kdh.1	Q9H7U1	OTTHUMG00000018641	ENST00000224756.8:c.1376C>G	10.37:g.86132184C>G	ENSP00000224756:p.Ala459Gly					CCSER2_ENST00000372088.2_Missense_Mutation_p.A459G|CCSER2_ENST00000359979.4_Missense_Mutation_p.A459G	p.A459G	NM_018999.2	NP_061872.2					2	1561	+								B4DFY4|B4DQU9|B7WPE8|D3DWE2|Q8N6E9|Q9H2S0|Q9ULU1	Missense_Mutation	SNP	ENST00000224756.8	37	c.1376C>G	CCDS31235.1	.	.	.	.	.	.	.	.	.	.	C	0.036	-1.305629	0.01353	.	.	ENSG00000107771	ENST00000359979;ENST00000224756;ENST00000372088	T;T;T	0.46819	0.86;2.2;2.2	4.51	0.276	0.15663	.	2.788850	0.01328	N	0.011146	T	0.28732	0.0712	N	0.08118	0	0.09310	N	0.999997	B;B;B	0.19200	0.034;0.013;0.034	B;B;B	0.19391	0.025;0.025;0.025	T	0.14144	-1.0483	10	0.37606	T	0.19	2.2605	4.76	0.13102	0.1225:0.6021:0.1198:0.1556	.	459;459;459	Q9H7U1-3;Q9H7U1;Q9H7U1-2	.;F190B_HUMAN;.	G	459	ENSP00000353068:A459G;ENSP00000224756:A459G;ENSP00000361160:A459G	ENSP00000224756:A459G	A	+	2	0	FAM190B	86122164	0.001000	0.12720	0.051000	0.19133	0.428000	0.31595	0.476000	0.22180	-0.387000	0.07809	-0.797000	0.03246	GCC		0.328	CCSER2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049132.2	NM_018999		5	97	0	0	0	0.27861	0	5	97					G	86132184	C	G	86132184	3	3	208	1	0	0	0	0	1	0	0	0	5522	739	26	5	1378	5	FAM190B	10	86132184	Missense_Mutation	SNP	C	TCGA-HC-7232-01A-11D-2114-08	35178746	86132184	49402563	24	9595											
EXT2	2132	broad.mit.edu	37	chr11	44151632	44151632	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagaagaaaagatgtcagatGtgtacagtattttgcagagc	15	10	11	5	0	1	5	1	0	0	5	1	5	1	5	0	0	3	3	0	0	5	4			TCGA-HC-7232-01A-11D-2114-08	TCGA-HC-7232-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82d7dc1-f6b3-4474-93bd-9bfbefe30139	1c5be2f0-5804-4689-903c-022227fc964e	g.chr11:44151632G>A	ENST00000343631.3	+	7	1246	c.1117G>A	c.(1117-1119)Gtg>Atg	p.V373M	EXT2_ENST00000395673.3_Missense_Mutation_p.V406M|EXT2_ENST00000533608.1_Missense_Mutation_p.V373M|EXT2_ENST00000358681.4_Missense_Mutation_p.V373M			Q93063	EXT2_HUMAN	exostosin glycosyltransferase 2	373					carbohydrate metabolic process (GO:0005975)|cell differentiation (GO:0030154)|cellular polysaccharide biosynthetic process (GO:0033692)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process (GO:0015014)|mesoderm formation (GO:0001707)|ossification (GO:0001503)|protein glycosylation (GO:0006486)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)|membrane (GO:0016020)	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity (GO:0050508)|glucuronosyltransferase activity (GO:0015020)|heparan sulfate N-acetylglucosaminyltransferase activity (GO:0042328)|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity (GO:0050509)|protein heterodimerization activity (GO:0046982)|transferase activity, transferring glycosyl groups (GO:0016757)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|lung(17)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	32						GATGTCAGATGTGTACAGTAT	0.453			"Mis, N, F, S"			"exostoses, osteosarcoma"			Hereditary Multiple Exostoses																													ENST00000395673.3			yes	Rec		Multiple Exostoses Type 2	11	11p12-p11	2132	"Mis, N, F, S"	multiple exostoses type 2 gene			M		"exostoses, osteosarcoma"			0				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|lung(17)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	32						c.(1216-1218)Gtg>Atg		exostosin glycosyltransferase 2							199	179	185					11																	44151632		2203	4299	6502	SO:0001583	missense	2132	Hereditary Multiple Exostoses	Familial Cancer Database	HME, Hereditary Exostoses, Multiple Osteochondromatosis, Multiple Cartilaginous Exostoses	glycosaminoglycan biosynthetic process|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|ossification|signal transduction	Golgi membrane|integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|heparan sulfate N-acetylglucosaminyltransferase activity|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity|protein heterodimerization activity	g.chr11:44151632G>A		CCDS7908.1, CCDS53618.1, CCDS53619.1	11p12-p11	2014-09-17	2013-03-01		ENSG00000151348	ENSG00000151348	2.4.1.224, 2.4.1.225	"Exostosin glycosyltransferase family"	3513	protein-coding gene	gene with protein product	"Glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N- acetylglucosaminyltransferase", "N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase"	608210	"exostoses (multiple) 2", "exostosin 2"			8162019, 9576285	Standard	NM_000401		Approved	SOTV	uc001mya.3	Q93063	OTTHUMG00000166498	ENST00000343631.3:c.1117G>A	11.37:g.44151632G>A	ENSP00000342656:p.Val373Met					EXT2_ENST00000533608.1_Missense_Mutation_p.V373M|EXT2_ENST00000358681.4_Missense_Mutation_p.V373M|EXT2_ENST00000343631.3_Missense_Mutation_p.V373M	p.V406M	NM_000401.3	NP_000392.3	Q93063	EXT2_HUMAN			7	1272	+			373					B2R5Z6|C9JU51|J3KPT2|O15288	Missense_Mutation	SNP	ENST00000343631.3	37	c.1216G>A	CCDS7908.1	.	.	.	.	.	.	.	.	.	.	G	11.51	1.659745	0.29515	.	.	ENSG00000151348	ENST00000533608;ENST00000358681;ENST00000395673;ENST00000343631	D;D;D;D	0.98207	-4.79;-4.79;-4.79;-4.79	5.66	1.03	0.20045	.	0.174764	0.64402	N	0.000017	D	0.92756	0.7697	N	0.10945	0.07	0.38387	D	0.9453	B;B;B;B;B	0.10296	0.001;0.002;0.001;0.003;0.003	B;B;B;B;B	0.18263	0.005;0.021;0.012;0.016;0.016	D	0.86147	0.1585	10	0.41790	T	0.15	2.7548	7.5656	0.27876	0.7228:0.0:0.2772:0.0	.	373;373;373;373;386	Q6NUL1;C9JU51;Q93063-2;Q93063;D3DR24	.;.;.;EXT2_HUMAN;.	M	373;373;406;373	ENSP00000431173:V373M;ENSP00000351509:V373M;ENSP00000379032:V406M;ENSP00000342656:V373M	ENSP00000342656:V373M	V	+	1	0	EXT2	44108208	0.868000	0.29978	0.630000	0.29268	0.995000	0.86356	1.755000	0.38379	0.277000	0.22141	-0.136000	0.14681	GTG		0.453	EXT2-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390074.1	NM_000401		23	53	0	0	0	0.706142	0	23	53					A	44151632	G	A	44151632	3	1	208	1	0	0	0	0	1	0	0	0	5324	1377	48	3	1242	3	EXT2	11	44151632	Missense_Mutation	SNP	G	TCGA-HC-7232-01A-11D-2114-08		44151632	90854884	25	9596											
OR5F1	338674	broad.mit.edu	37	chr11	55761664	55761664	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaccctgcagcaaaagccccGgctgccatttttaggtagac	11	8	9	13	1	0	1	0	0	0	1	0	1	0	1	4	2	5	4	4	2	5	4			TCGA-HC-7232-01A-11D-2114-08	TCGA-HC-7232-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82d7dc1-f6b3-4474-93bd-9bfbefe30139	1c5be2f0-5804-4689-903c-022227fc964e	g.chr11:55761664G>A	ENST00000278409.1	-	1	437	c.438C>T	c.(436-438)gcC>gcT	p.A146A		NM_003697.1	NP_003688.1	O95221	OR5F1_HUMAN	olfactory receptor, family 5, subfamily F, member 1	146					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(6)|kidney(1)|large_intestine(11)|liver(1)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	58	Esophageal squamous(21;0.00448)					CAAAAGCCCCGGCTGCCATTT	0.502																																						ENST00000278409.1																			0				endometrium(6)|kidney(1)|large_intestine(11)|liver(1)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	58						c.(436-438)gcC>gcT		olfactory receptor, family 5, subfamily F, member 1							41	43	43					11																	55761664		2201	4296	6497	SO:0001819	synonymous_variant	338674				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55761664G>A	AF065863	CCDS31515.1	11q11	2012-08-09			ENSG00000149133	ENSG00000149133		"GPCR / Class A : Olfactory receptors"	8343	protein-coding gene	gene with protein product		608492				9787077	Standard	NM_003697		Approved	OR11-10	uc010riv.2	O95221	OTTHUMG00000166825	ENST00000278409.1:c.438C>T	11.37:g.55761664G>A							p.A146A	NM_003697.1	NP_003688.1	O95221	OR5F1_HUMAN			1	437	-	Esophageal squamous(21;0.00448)		146					Q495D1|Q6IFB9	Silent	SNP	ENST00000278409.1	37	c.438C>T	CCDS31515.1																																																																																				0.502	OR5F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391532.1	NM_003697		12	27	0	0	0	0.479597	0	12	27					A	55761664	G	A	55761664	2	1	208	1	0	0	0	0	0	0	0	1	11158	1103	39	2		2	OR5F1	11	55761664	Silent	SNP	G	TCGA-HC-7232-01A-11D-2114-08	11610032	55761664	79244852	26	9597											
GAB2	9846	broad.mit.edu	37	chr11	77961404	77961404	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgctgagctcagctggagaaGagcgggggccatgaccggct	8	6	17	10	2	1	4	1	2	0	2	1	5	1	4	2	4	4	4	2	4	1	0			TCGA-HC-7232-01A-11D-2114-08	TCGA-HC-7232-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82d7dc1-f6b3-4474-93bd-9bfbefe30139	1c5be2f0-5804-4689-903c-022227fc964e	g.chr11:77961404G>A	ENST00000361507.4	-	3	504	c.419C>T	c.(418-420)tCt>tTt	p.S140F	GAB2_ENST00000340149.2_Missense_Mutation_p.S102F|GAB2_ENST00000526030.1_Intron	NM_080491.2	NP_536739.1	Q9UQC2	GAB2_HUMAN	GRB2-associated binding protein 2	140					cell migration (GO:0016477)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|osteoclast differentiation (GO:0030316)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell proliferation (GO:0008284)|positive regulation of mast cell degranulation (GO:0043306)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)		INTS4/GAB2(2)	NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(8)|ovary(5)|skin(1)|upper_aerodigestive_tract(1)	24	all_cancers(14;3.31e-18)|all_epithelial(13;5.3e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.58e-23)			AGCTGGAGAAGAGCGGGGGCC	0.517																																						ENST00000361507.4																		INTS4/GAB2(2)	0				NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(8)|ovary(5)|skin(1)|upper_aerodigestive_tract(1)	24						c.(418-420)tCt>tTt		GRB2-associated binding protein 2							91	99	96					11																	77961404		2200	4292	6492	SO:0001583	missense	9846				osteoclast differentiation|phosphatidylinositol-mediated signaling|positive regulation of cell proliferation|positive regulation of mast cell degranulation	cytosol|plasma membrane	phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|transmembrane receptor protein tyrosine kinase adaptor activity	g.chr11:77961404G>A	AB011143	CCDS8259.1, CCDS8260.1	11q13.4-q13.5	2013-01-10			ENSG00000033327	ENSG00000033327		"Pleckstrin homology (PH) domain containing"	14458	protein-coding gene	gene with protein product	"Grb2-associated binder 2"	606203				10391903, 10068651	Standard	NM_080491		Approved	KIAA0571	uc001ozh.3	Q9UQC2	OTTHUMG00000166673	ENST00000361507.4:c.419C>T	11.37:g.77961404G>A	ENSP00000354952:p.Ser140Phe					GAB2_ENST00000526030.1_Intron|GAB2_ENST00000340149.2_Missense_Mutation_p.S102F	p.S140F	NM_080491.2	NP_536739.1	Q9UQC2	GAB2_HUMAN	OV - Ovarian serous cystadenocarcinoma(8;1.58e-23)		3	504	-	all_cancers(14;3.31e-18)|all_epithelial(13;5.3e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		140					A2RRM2|A6NEW9|A7MD36|O60317	Missense_Mutation	SNP	ENST00000361507.4	37	c.419C>T	CCDS8259.1	.	.	.	.	.	.	.	.	.	.	G	19.24	3.790008	0.70337	.	.	ENSG00000033327	ENST00000340149;ENST00000361507;ENST00000528886;ENST00000530915	T;T;T;T	0.52754	2.33;2.56;0.7;0.65	5.46	5.46	0.80206	.	0.249707	0.32444	U	0.006097	T	0.68137	0.2968	M	0.64997	1.995	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	T	0.67503	-0.5654	10	0.56958	D	0.05	-13.5061	19.5125	0.95148	0.0:0.0:1.0:0.0	.	140	Q9UQC2	GAB2_HUMAN	F	102;140;102;102	ENSP00000343959:S102F;ENSP00000354952:S140F;ENSP00000433762:S102F;ENSP00000431868:S102F	ENSP00000343959:S102F	S	-	2	0	GAB2	77639052	1.000000	0.71417	0.996000	0.52242	0.103000	0.19146	9.016000	0.93645	2.840000	0.97914	0.655000	0.94253	TCT		0.517	GAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391085.1	NM_080491		28	62	0	0	0	0.729181	0	28	62					A	77961404	G	A	77961404	3	1	208	1	0	0	0	0	1	0	0	0	6149	942	33	3	1643	3	GAB2	11	77961404	Missense_Mutation	SNP	G	TCGA-HC-7232-01A-11D-2114-08	22199740	77961404	57045112	27	9598											
DDX47	51202	broad.mit.edu	37	chr12	12974651	12974651	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cccttgcaaaaaaaccacatAtaataataggtgagtaactg	18	9	6	8	0	0	1	0	1	0	0	0	1	0	1	2	1	3	2	2	1	8	6			TCGA-HC-7232-01A-11D-2114-08	TCGA-HC-7232-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82d7dc1-f6b3-4474-93bd-9bfbefe30139	1c5be2f0-5804-4689-903c-022227fc964e	g.chr12:12974651A>G	ENST00000358007.3	+	4	455	c.433A>G	c.(433-435)Ata>Gta	p.I145V	DDX47_ENST00000352940.4_Missense_Mutation_p.I145V	NM_016355.3	NP_057439.2	Q9H0S4	DDX47_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 47	145	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|mRNA processing (GO:0006397)|RNA splicing (GO:0008380)|rRNA processing (GO:0006364)	membrane (GO:0016020)|nucleolus (GO:0005730)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16		Prostate(47;0.0526)		BRCA - Breast invasive adenocarcinoma(232;0.0354)		AAAACCACATATAATAATAGG	0.358																																						ENST00000358007.3																			0				breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16						c.(433-435)Ata>Gta		DEAD (Asp-Glu-Ala-Asp) box polypeptide 47							87	88	88					12																	12974651		2203	4300	6503	SO:0001583	missense	51202					nucleolus	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding	g.chr12:12974651A>G	AK127712	CCDS8655.1, CCDS8656.1	12p13.2	2010-07-06			ENSG00000213782	ENSG00000213782		"DEAD-boxes"	18682	protein-coding gene	gene with protein product		615428					Standard	NM_016355		Approved	DKFZp564O176, FLJ30012, HQ0256, RRP3	uc001rax.3	Q9H0S4	OTTHUMG00000168709	ENST00000358007.3:c.433A>G	12.37:g.12974651A>G	ENSP00000350698:p.Ile145Val					RP11-59H1.3_ENST00000534843.1_3'UTR|DDX47_ENST00000352940.4_Missense_Mutation_p.I145V	p.I145V	NM_016355.3	NP_057439.2	Q9H0S4	DDX47_HUMAN		BRCA - Breast invasive adenocarcinoma(232;0.0354)	4	455	+		Prostate(47;0.0526)	145			Helicase ATP-binding.		B3KXP4|G5E955|Q96GM0|Q96NV8|Q9UI98	Missense_Mutation	SNP	ENST00000358007.3	37	c.433A>G	CCDS8655.1	.	.	.	.	.	.	.	.	.	.	A	0.890	-0.725765	0.03158	.	.	ENSG00000213782	ENST00000352940;ENST00000358007;ENST00000544400	T;T;T	0.55052	0.54;1.96;0.54	5.09	-4.32	0.03688	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.497399	0.22137	N	0.064116	T	0.32585	0.0834	L	0.28054	0.825	0.20764	N	0.999851	B;B;B	0.06786	0.0;0.0;0.001	B;B;B	0.12837	0.008;0.003;0.008	T	0.32161	-0.9917	10	0.08599	T	0.76	-1.7387	16.2272	0.82306	0.3132:0.0:0.6868:0.0	.	145;145;145	Q9H4E3;G5E955;Q9H0S4	.;.;DDX47_HUMAN	V	145;145;82	ENSP00000319578:I145V;ENSP00000350698:I145V;ENSP00000444000:I82V	ENSP00000319578:I145V	I	+	1	0	DDX47	12865918	0.000000	0.05858	0.106000	0.21319	0.868000	0.49771	-1.372000	0.02570	-0.705000	0.05035	-0.388000	0.06559	ATA		0.358	DDX47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400674.1	NM_016355		12	42	0	0	0	0.479597	0	12	42					G	12974651	A	G	12974651	3	3	208	1	0	0	0	0	1	0	0	0	4365	449	16	4	447	4	DDX47	12	12974651	Missense_Mutation	SNP	A	TCGA-HC-7232-01A-11D-2114-08		12974651	120877244	28	9599											
NACA	4666	broad.mit.edu	37	chr12	57111705	57111705	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gctagacctccttttggggaGggaggagttgcagctggggt	6	10	18	7	0	0	1	0	0	0	1	1	4	1	4	2	6	2	4	2	6	1	4	rs2926746		TCGA-HC-7232-01A-11D-2114-08	TCGA-HC-7232-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82d7dc1-f6b3-4474-93bd-9bfbefe30139	1c5be2f0-5804-4689-903c-022227fc964e	g.chr12:57111705G>A	ENST00000454682.1	-	3	3890	c.3609C>T	c.(3607-3609)ccC>ccT	p.P1203P	NACA_ENST00000393891.4_Intron|NACA_ENST00000551793.1_Intron|NACA_ENST00000552540.1_Intron|NACA_ENST00000550952.1_Intron|NACA_ENST00000548563.1_Intron|NACA_ENST00000356769.3_Intron|NACA_ENST00000546392.1_Intron	NM_001113203.2	NP_001106674.2	E9PAV3	NACAM_HUMAN	nascent polypeptide-associated complex alpha subunit	1203	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						CTTTTGGGGAGGGAGGAGTTG	0.642			T	BCL6	NHL																																	ENST00000454682.1				Dom	yes		12	12q23-q24.1	4666	T	nascent-polypeptide-associated complex alpha polypeptide			L	BCL6		NHL		0				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						c.(3607-3609)ccC>ccT		nascent polypeptide-associated complex alpha subunit							64	76	73					12																	57111705		1233	2868	4101	SO:0001819	synonymous_variant	4666				interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation	nascent polypeptide-associated complex|nucleus	DNA binding	g.chr12:57111705G>A	X80909	CCDS31837.1, CCDS44925.1, CCDS44925.2	12q23-q24.1	2008-09-05	2007-04-20		ENSG00000196531	ENSG00000196531			7629	protein-coding gene	gene with protein product		601234	"nascent-polypeptide-associated complex alpha polypeptide"			8047162	Standard	NM_001113202		Approved	NACA1	uc001sma.2	E9PAV3		ENST00000454682.1:c.3609C>T	12.37:g.57111705G>A						NACA_ENST00000393891.4_Intron|NACA_ENST00000548563.1_Intron|NACA_ENST00000552540.1_Intron|NACA_ENST00000546392.1_Intron|NACA_ENST00000356769.3_Intron|NACA_ENST00000551793.1_Intron|NACA_ENST00000550952.1_Intron	p.P1203P	NM_001113203.2	NP_001106674.2	Q13765	NACA_HUMAN			3	3890	-			0						Silent	SNP	ENST00000454682.1	37	c.3609C>T																																																																																					0.642	NACA-201	KNOWN	basic	protein_coding	protein_coding		NM_005594		4	142	0	0	0	0.150653	0	4	142					A	57111705	G	A	57111705	2	1	208	1	0	0	0	0	0	0	0	1	10133	987	35	3		3	NACA	12	57111705	Silent	SNP	G	TCGA-HC-7232-01A-11D-2114-08	44137054	57111705	76740190	29	9600											
ENOX1	55068	broad.mit.edu	37	chr13	43934080	43934080	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgaattgctgtaatatcacCgcactgttcaaagacttctt	11	13	6	11	2	3	1	2	0	1	1	3	2	3	1	2	0	1	4	2	0	4	6			TCGA-HC-7232-01A-11D-2114-08	TCGA-HC-7232-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82d7dc1-f6b3-4474-93bd-9bfbefe30139	1c5be2f0-5804-4689-903c-022227fc964e	g.chr13:43934080C>T	ENST00000261488.6	-	7	1073	c.496G>A	c.(496-498)Ggt>Agt	p.G166S	ENOX1_ENST00000540032.1_5'UTR|ENOX1_ENST00000412891.1_Missense_Mutation_p.G166S|ENOX1_ENST00000482207.1_5'UTR	NM_001242863.1|NM_017993.3	NP_001229792.1|NP_060463.2	Q8TC92	ENOX1_HUMAN	ecto-NOX disulfide-thiol exchanger 1	166	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.				rhythmic process (GO:0048511)	extracellular region (GO:0005576)|plasma membrane (GO:0005886)	nucleic acid binding (GO:0003676)|nucleotide binding (GO:0000166)|oxidoreductase activity (GO:0016491)			breast(1)|endometrium(3)|large_intestine(7)|lung(18)|pancreas(2)|prostate(1)|skin(1)|urinary_tract(1)	34		Lung NSC(96;0.000518)|Prostate(109;0.0233)|Hepatocellular(98;0.0268)|Lung SC(185;0.0367)|Breast(139;0.0406)		GBM - Glioblastoma multiforme(144;0.00333)|BRCA - Breast invasive adenocarcinoma(63;0.172)		GTAATATCACCGCACTGTTCA	0.403																																						ENST00000261488.6																			0				breast(1)|endometrium(3)|large_intestine(7)|lung(18)|pancreas(2)|prostate(1)|skin(1)|urinary_tract(1)	34						c.(496-498)Ggt>Agt		ecto-NOX disulfide-thiol exchanger 1							113	105	108					13																	43934080		2203	4300	6503	SO:0001583	missense	55068				electron transport chain|rhythmic process|transport	extracellular space|plasma membrane	nucleic acid binding|nucleotide binding|oxidoreductase activity	g.chr13:43934080C>T	EF432052	CCDS9389.1	13q14.11	2013-02-12			ENSG00000120658	ENSG00000120658		"RNA binding motif (RRM) containing"	25474	protein-coding gene	gene with protein product		610914				11360993	Standard	NM_001127615		Approved	FLJ10094, PIG38, CNOX, cCNOX	uc001uza.4	Q8TC92	OTTHUMG00000016818	ENST00000261488.6:c.496G>A	13.37:g.43934080C>T	ENSP00000261488:p.Gly166Ser					ENOX1_ENST00000482207.1_5'UTR|ENOX1_ENST00000412891.1_Missense_Mutation_p.G166S|ENOX1_ENST00000540032.1_5'UTR	p.G166S	NM_001242863.1|NM_017993.3	NP_001229792.1|NP_060463.2	Q8TC92	ENOX1_HUMAN		GBM - Glioblastoma multiforme(144;0.00333)|BRCA - Breast invasive adenocarcinoma(63;0.172)	7	1073	-		Lung NSC(96;0.000518)|Prostate(109;0.0233)|Hepatocellular(98;0.0268)|Lung SC(185;0.0367)|Breast(139;0.0406)	166			RRM.		A4GU15|A6NMH9|B7Z5K1|Q2TU81|Q5VT11|Q9NWE0	Missense_Mutation	SNP	ENST00000261488.6	37	c.496G>A	CCDS9389.1	.	.	.	.	.	.	.	.	.	.	C	32	5.121383	0.94385	.	.	ENSG00000120658	ENST00000261488;ENST00000412891	T;T	0.45668	0.89;0.89	5.89	5.89	0.94794	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	T	0.75664	0.3880	M	0.94063	3.49	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.81269	-0.1009	10	0.87932	D	0	1.3973	20.248	0.98401	0.0:1.0:0.0:0.0	.	166	Q8TC92	ENOX1_HUMAN	S	166	ENSP00000261488:G166S;ENSP00000415054:G166S	ENSP00000261488:G166S	G	-	1	0	ENOX1	42832080	1.000000	0.71417	0.998000	0.56505	0.986000	0.74619	7.440000	0.80464	2.790000	0.95986	0.655000	0.94253	GGT		0.403	ENOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044717.2	NM_017993		20	26	0	0	0	0.592651	0	20	26					T	43934080	C	T	43934080	3	4	208	1	0	0	0	0	1	0	0	0	5126	652	23	2	1479	2	ENOX1	13	43934080	Missense_Mutation	SNP	C	TCGA-HC-7232-01A-11D-2114-08		43934080	71235798	30	9601											
ZIC5	85416	broad.mit.edu	37	chr13	100622586	100622586	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgctcggggcctcccacgtgCtccaccgtgacgtgattcac	5	9	11	16	4	1	2	1	2	0	0	4	2	3	2	4	2	2	2	4	2	0	1			TCGA-HC-7232-01A-11D-2114-08	TCGA-HC-7232-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82d7dc1-f6b3-4474-93bd-9bfbefe30139	1c5be2f0-5804-4689-903c-022227fc964e	g.chr13:100622586C>T	ENST00000267294.4	-	1	1577	c.1344G>A	c.(1342-1344)gaG>gaA	p.E448E		NM_033132.3	NP_149123.2	Q96T25	ZIC5_HUMAN	Zic family member 5	448					cell differentiation (GO:0030154)|forebrain development (GO:0030900)|neural tube closure (GO:0001843)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|kidney(1)|lung(2)|prostate(1)|skin(2)	9	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					CTCCCACGTGCTCCACCGTGA	0.677																																						ENST00000267294.4																			0				endometrium(3)|kidney(1)|lung(2)|prostate(1)|skin(2)	9						c.(1342-1344)gaG>gaA		Zic family member 5							72	67	69					13																	100622586		2203	4300	6503	SO:0001819	synonymous_variant	85416				cell differentiation	nucleus	DNA binding|zinc ion binding	g.chr13:100622586C>T	AF378304	CCDS9494.2	13q32.2	2013-01-08	2011-05-19		ENSG00000139800	ENSG00000139800		"Zinc fingers, C2H2-type"	20322	protein-coding gene	gene with protein product			"Zic family member 5 (odd-paired homolog, Drosophila)"				Standard	NM_033132		Approved		uc001vom.1	Q96T25	OTTHUMG00000017280	ENST00000267294.4:c.1344G>A	13.37:g.100622586C>T							p.E448E	NM_033132.3	NP_149123.2	Q96T25	ZIC5_HUMAN			1	1577	-	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		448					Q5VYB0	Silent	SNP	ENST00000267294.4	37	c.1344G>A	CCDS9494.2																																																																																				0.677	ZIC5-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000045623.3	NM_033132		16	39	0	0	0	0.557998	0	16	39					T	100622586	C	T	100622586	2	4	208	1	0	0	0	0	0	0	0	1	17679	796	28	3		3	ZIC5	13	100622586	Silent	SNP	C	TCGA-HC-7232-01A-11D-2114-08	56688506	100622586	14547292	31	9602											
GZMB	3002	broad.mit.edu	37	chr14	25101106	25101106	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tctgggtcccccacgcacaaCtcaatggtactgtcgtaata	10	10	8	13	2	2	0	1	0	1	0	4	0	3	0	2	2	2	3	2	2	5	3	rs150419134	byFrequency	TCGA-HC-7232-01A-11D-2114-08	TCGA-HC-7232-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82d7dc1-f6b3-4474-93bd-9bfbefe30139	1c5be2f0-5804-4689-903c-022227fc964e	g.chr14:25101106C>T	ENST00000216341.4	-	4	664	c.558G>A	c.(556-558)gaG>gaA	p.E186E	GZMB_ENST00000415355.3_Silent_p.E174E|GZMB_ENST00000382540.1_Silent_p.E141E|RP11-104E19.1_ENST00000557736.1_RNA|RP11-104E19.1_ENST00000555300.1_RNA|GZMB_ENST00000526004.1_3'UTR|GZMB_ENST00000382542.1_Silent_p.E220E			P10144	GRAB_HUMAN	granzyme B (granzyme 2, cytotoxic T-lymphocyte-associated serine esterase 1)	186	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				apoptotic process (GO:0006915)|cytolysis (GO:0019835)|intrinsic apoptotic signaling pathway (GO:0097193)|Notch signaling pathway (GO:0007219)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|immunological synapse (GO:0001772)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			endometrium(2)|large_intestine(1)|lung(4)|stomach(4)|urinary_tract(2)	13				GBM - Glioblastoma multiforme(265;0.028)		CCACGCACAACTCAATGGTAC	0.453																																						ENST00000216341.4																			0				endometrium(2)|large_intestine(1)|lung(4)|stomach(4)|urinary_tract(2)	13						c.(556-558)gaG>gaA		granzyme B (granzyme 2, cytotoxic T-lymphocyte-associated serine esterase 1)		C		1,4405	2.1+/-5.4	0,1,2202	144	135	138		558	2.3	0	14	dbSNP_134	138	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	GZMB	NM_004131.4		0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154		186/248	25101106	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	3002				activation of pro-apoptotic gene products|cleavage of lamin|cytolysis|induction of apoptosis by intracellular signals	cytosol|immunological synapse|nucleus	protein binding|serine-type endopeptidase activity	g.chr14:25101106C>T	BC030195	CCDS9633.1	14q11.2	2008-08-13			ENSG00000100453	ENSG00000100453			4709	protein-coding gene	gene with protein product	"fragmentin 2", "cytotoxic serine protease B", "cathepsin G-like 1", "T-cell serine protease 1-3E"	123910		CTLA1, CSPB		2323780	Standard	NM_004131		Approved	CCPI, CGL-1, CSP-B, CGL1, CTSGL1, HLP, SECT	uc001wps.2	P10144	OTTHUMG00000029369	ENST00000216341.4:c.558G>A	14.37:g.25101106C>T						GZMB_ENST00000415355.3_Silent_p.E174E|RP11-104E19.1_ENST00000555300.1_RNA|GZMB_ENST00000382542.1_Silent_p.E220E|RP11-104E19.1_ENST00000557736.1_RNA|GZMB_ENST00000382540.1_Silent_p.E141E|GZMB_ENST00000526004.1_3'UTR	p.E186E			P10144	GRAB_HUMAN		GBM - Glioblastoma multiforme(265;0.028)	4	664	-			186			Peptidase S1.		Q8N1D2|Q9UCC1	Silent	SNP	ENST00000216341.4	37	c.558G>A	CCDS9633.1																																																																																				0.453	GZMB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276540.3	NM_004131		25	122	0	0	0	0.681144	0	25	122					T	25101106	C	T	25101106	2	4	208	1	0	0	0	0	0	0	0	1	6916	564	20	3		3	GZMB	14	25101106	Silent	SNP	C	TCGA-HC-7232-01A-11D-2114-08		25101106	82248434	32	9603											
ZFP36L1	677	broad.mit.edu	37	chr14	69256863	69256863	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggatgccgtgtgcgaactggCacttgtccccgtacttacag	7	10	12	12	3	0	0	0	0	0	0	1	2	1	1	3	2	5	2	3	2	3	3			TCGA-HC-7232-01A-11D-2114-08	TCGA-HC-7232-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82d7dc1-f6b3-4474-93bd-9bfbefe30139	1c5be2f0-5804-4689-903c-022227fc964e	g.chr14:69256863C>A	ENST00000439696.2	-	2	705	c.404G>T	c.(403-405)tGc>tTc	p.C135F	ZFP36L1_ENST00000555997.1_3'UTR|ZFP36L1_ENST00000336440.3_Missense_Mutation_p.C135F	NM_001244701.1|NM_004926.3	NP_001231630.1|NP_004917.2	Q07352	TISB_HUMAN	ZFP36 ring finger protein-like 1	135					gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|regulation of mRNA stability (GO:0043488)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|T cell differentiation in thymus (GO:0033077)|vasculogenesis (GO:0001570)	cytosol (GO:0005829)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(4)|kidney(1)|large_intestine(1)|liver(2)|lung(9)|ovary(1)|prostate(2)|urinary_tract(1)	21				all cancers(60;0.00203)|BRCA - Breast invasive adenocarcinoma(234;0.00205)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)		TGCGAACTGGCACTTGTCCCC	0.642											OREG0022753	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000439696.2																			0				breast(4)|kidney(1)|large_intestine(1)|liver(2)|lung(9)|ovary(1)|prostate(2)|urinary_tract(1)	21						c.(403-405)tGc>tTc		ZFP36 ring finger protein-like 1							109	103	105					14																	69256863		2203	4300	6503	SO:0001583	missense	677				regulation of mRNA stability	cytosol|nucleus	DNA binding|mRNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr14:69256863C>A	X79066	CCDS9791.1	14q22-q24	2012-11-27	2012-11-27	2001-11-23		ENSG00000185650		"RING-type (C3HC4) zinc fingers"	1107	protein-coding gene	gene with protein product		601064	"zinc finger protein, C3H type, 36-like 1", "zinc finger protein 36, C3H type-like 1"	BRF1		8024689	Standard	NM_004926		Approved	RNF162B, Berg36, ERF1, TIS11B, cMG1	uc021rve.1	Q07352		ENST00000439696.2:c.404G>T	14.37:g.69256863C>A	ENSP00000388402:p.Cys135Phe		OREG0022753	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1113	ZFP36L1_ENST00000336440.3_Missense_Mutation_p.C135F|ZFP36L1_ENST00000555997.1_3'UTR	p.C135F	NM_001244701.1|NM_004926.3	NP_001231630.1|NP_004917.2	Q07352	TISB_HUMAN		all cancers(60;0.00203)|BRCA - Breast invasive adenocarcinoma(234;0.00205)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)	2	705	-			135					Q13851	Missense_Mutation	SNP	ENST00000439696.2	37	c.404G>T	CCDS9791.1	.	.	.	.	.	.	.	.	.	.	C	19.44	3.828820	0.71258	.	.	ENSG00000185650	ENST00000439696;ENST00000336440;ENST00000435246;ENST00000557086;ENST00000557022	D;D;D;D	0.99951	-8.74;-8.74;-8.74;-8.74	4.69	4.69	0.59074	Zinc finger, CCCH-type (3);	0.000000	0.85682	D	0.000000	D	0.99959	0.9983	H	0.96662	3.86	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	D	0.96012	0.9002	10	0.87932	D	0	-0.0896	17.8126	0.88620	0.0:1.0:0.0:0.0	.	135	Q07352	TISB_HUMAN	F	135;135;118;141;113	ENSP00000388402:C135F;ENSP00000337386:C135F;ENSP00000450784:C141F;ENSP00000450600:C113F	ENSP00000337386:C135F	C	-	2	0	ZFP36L1	68326616	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.563000	0.82314	2.423000	0.82170	0.585000	0.79938	TGC		0.642	ZFP36L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413227.1			36	159	1	0	1.03325e-14	0.859065	1.1499e-14	36	159					A	69256863	C	A	69256863	3	1	208	1	0	0	0	0	1	0	0	0	17643	710	25	5	616	5	ZFP36L1	14	69256863	Missense_Mutation	SNP	C	TCGA-HC-7232-01A-11D-2114-08	44155757	69256863	38092677	33	9604											
LRRC49	54839	broad.mit.edu	37	chr15	71185232	71185232	+	De_novo_Start_InFrame	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaacctggactgtctcctaTcatgattcccgggaaatatc	11	11	8	11	1	2	2	1	1	1	1	5	4	3	4	3	2	1	0	3	2	4	3			TCGA-HC-7232-01A-11D-2114-08	TCGA-HC-7232-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82d7dc1-f6b3-4474-93bd-9bfbefe30139	1c5be2f0-5804-4689-903c-022227fc964e	g.chr15:71185232T>G	ENST00000260382.5	+	0	259				LRRC49_ENST00000443425.2_De_novo_Start_OutOfFrame|THAP10_ENST00000249861.4_5'Flank|LRRC49_ENST00000544974.2_Intron|LRRC49_ENST00000560369.1_De_novo_Start_InFrame|LRRC49_ENST00000560691.1_5'Flank	NM_001199017.1|NM_017691.3	NP_001185946.1|NP_060161.2	Q8IUZ0	LRC49_HUMAN	leucine rich repeat containing 49							cytoplasm (GO:0005737)|microtubule (GO:0005874)				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(3)|skin(3)	34						CTGTCTCCTATCATGATTCCC	0.512											OREG0023244	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000443425.2																			0				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(3)|skin(3)	34								leucine rich repeat containing 49							164	151	155					15																	71185232		2199	4297	6496			54839					cytoplasm|microtubule		g.chr15:71185232T>G		CCDS32282.1, CCDS55971.1, CCDS58376.1, CCDS61694.1	15q23	2005-08-09				ENSG00000137821			25965	protein-coding gene	gene with protein product						12477932	Standard	NM_001199017		Approved	FLJ20156	uc010ukf.2	Q8IUZ0			15.37:g.71185232T>G			OREG0023244	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1128	LRRC49_ENST00000560369.1_De_novo_Start_InFrame|LRRC49_ENST00000544974.2_Intron|LRRC49_ENST00000260382.5_De_novo_Start_InFrame		NM_001199018.1	NP_001185947.1	Q8IUZ0	LRC49_HUMAN			0	62	+								B3KVX1|B7Z366|F5H1J4|G5E9T5|H0YLN4|Q9NXM6	Translation_Start_Site	SNP	ENST00000260382.5	37		CCDS32282.1																																																																																				0.512	LRRC49-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417209.3	NM_017691		23	101	0	0	0	0.706142	0	23	101					G	71185232	T	G	71185232	1	3	208	1	0	1	0	0	0	0	0	0	9006	1450	50	5		5	LRRC49	15	71185232	De_novo_Start_InFrame	SNP	T	TCGA-HC-7232-01A-11D-2114-08		71185232	31346160	34	9605											
PTPN9	5780	broad.mit.edu	37	chr15	75798219	75798219	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcgaagggatctgggtggccGttcacctggggtaggaactg	7	9	17	8	2	2	0	1	0	1	0	3	3	2	2	2	6	1	2	2	6	3	2	rs146156674		TCGA-HC-7232-01A-11D-2114-08	TCGA-HC-7232-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82d7dc1-f6b3-4474-93bd-9bfbefe30139	1c5be2f0-5804-4689-903c-022227fc964e	g.chr15:75798219G>A	ENST00000306726.2	-	7	1277	c.765C>T	c.(763-765)aaC>aaT	p.N255N	PTPN9_ENST00000564970.1_5'Flank	NM_002833.2	NP_002824.1	P43378	PTN9_HUMAN	protein tyrosine phosphatase, non-receptor type 9	255					peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)	non-membrane spanning protein tyrosine phosphatase activity (GO:0004726)|protein tyrosine phosphatase activity (GO:0004725)			central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						CTGGGTGGCCGTTCACCTGGG	0.542																																						ENST00000306726.2																			0				central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						c.(763-765)aaC>aaT		protein tyrosine phosphatase, non-receptor type 9		G		1,4393	2.1+/-5.4	0,1,2196	100	94	96		765	-5	0.7	15	dbSNP_134	96	1,8587	1.2+/-3.3	0,1,4293	no	coding-synonymous	PTPN9	NM_002833.2		0,2,6489	AA,AG,GG		0.0116,0.0228,0.0154		255/594	75798219	2,12980	2197	4294	6491	SO:0001819	synonymous_variant	5780					cytoplasmic part	non-membrane spanning protein tyrosine phosphatase activity|protein binding	g.chr15:75798219G>A		CCDS10280.1	15q23	2011-06-09			ENSG00000169410	ENSG00000169410		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"	9661	protein-coding gene	gene with protein product		600768				1557404	Standard	NM_002833		Approved	MEG2	uc002bal.3	P43378	OTTHUMG00000142838	ENST00000306726.2:c.765C>T	15.37:g.75798219G>A							p.N255N	NM_002833.2	NP_002824.1	P43378	PTN9_HUMAN			7	1277	-			255					Q53XR9	Silent	SNP	ENST00000306726.2	37	c.765C>T	CCDS10280.1																																																																																				0.542	PTPN9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286474.1			3	53	0	0	0	0.150653	0	3	53					A	75798219	G	A	75798219	2	1	208	1	0	0	0	0	0	0	0	1	12794	1136	40	1		1	PTPN9	15	75798219	Silent	SNP	G	TCGA-HC-7232-01A-11D-2114-08	4612987	75798219	26733173	35	9606											
ASB7	140460	broad.mit.edu	37	chr15	101169708	101169708	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctatgcagccatgcatggccGggcccgcattgcacgcttga	7	8	12	14	3	0	1	0	1	0	0	0	1	0	1	3	2	4	5	3	2	1	3			TCGA-HC-7232-01A-11D-2114-08	TCGA-HC-7232-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82d7dc1-f6b3-4474-93bd-9bfbefe30139	1c5be2f0-5804-4689-903c-022227fc964e	g.chr15:101169708G>A	ENST00000332783.7	+	5	1063	c.278G>A	c.(277-279)cGg>cAg	p.R93Q	ASB7_ENST00000343276.4_Missense_Mutation_p.R93Q|ASB7_ENST00000558747.1_Intron	NM_198243.2	NP_937886.1	Q9H672	ASB7_HUMAN	ankyrin repeat and SOCS box containing 7	93					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)					breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|prostate(1)|skin(2)	16	Lung NSC(78;0.00121)|all_lung(78;0.00152)|Melanoma(26;0.00852)		OV - Ovarian serous cystadenocarcinoma(32;0.00168)|LUSC - Lung squamous cell carcinoma(107;0.0766)|Lung(145;0.103)			ATGCATGGCCGGGCCCGCATT	0.483																																						ENST00000332783.7																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|prostate(1)|skin(2)	16						c.(277-279)cGg>cAg		ankyrin repeat and SOCS box containing 7							59	60	60					15																	101169708		2203	4300	6503	SO:0001583	missense	140460				intracellular signal transduction			g.chr15:101169708G>A		CCDS10387.1, CCDS10388.1	15q26.3	2013-01-10	2011-01-25		ENSG00000183475	ENSG00000183475		"Ankyrin repeat domain containing"	17182	protein-coding gene	gene with protein product		615052	"ankyrin repeat and SOCS box-containing 7"				Standard	NM_024708		Approved		uc002bwk.3	Q9H672	OTTHUMG00000149868	ENST00000332783.7:c.278G>A	15.37:g.101169708G>A	ENSP00000328327:p.Arg93Gln					ASB7_ENST00000558747.1_Intron|ASB7_ENST00000343276.4_Missense_Mutation_p.R93Q	p.R93Q	NM_198243.2	NP_937886.1	Q9H672	ASB7_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.00168)|LUSC - Lung squamous cell carcinoma(107;0.0766)|Lung(145;0.103)		5	1063	+	Lung NSC(78;0.00121)|all_lung(78;0.00152)|Melanoma(26;0.00852)		93					A8K1E5|Q6GSJ6|Q7Z4S3	Missense_Mutation	SNP	ENST00000332783.7	37	c.278G>A	CCDS10387.1	.	.	.	.	.	.	.	.	.	.	G	25.4	4.634784	0.87760	.	.	ENSG00000183475	ENST00000332783;ENST00000343276	T;T	0.52754	0.65;0.65	5.27	5.27	0.74061	Ankyrin repeat-containing domain (4);	0.000000	0.85682	D	0.000000	T	0.46034	0.1372	L	0.31294	0.92	0.80722	D	1	P;B	0.48640	0.913;0.414	P;B	0.47645	0.553;0.031	T	0.27297	-1.0078	10	0.30854	T	0.27	-4.966	19.2541	0.93938	0.0:0.0:1.0:0.0	.	93;93	Q9H672;Q9H672-2	ASB7_HUMAN;.	Q	93	ENSP00000328327:R93Q;ENSP00000339819:R93Q	ENSP00000328327:R93Q	R	+	2	0	ASB7	98987231	1.000000	0.71417	1.000000	0.80357	0.904000	0.53231	9.240000	0.95396	2.618000	0.88619	0.455000	0.32223	CGG		0.483	ASB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313617.1	NM_024708		3	75	0	0	0	0.115264	0	3	75					A	101169708	G	A	101169708	3	1	208	1	0	0	0	0	1	0	0	0	1028	1116	39	2	284	2	ASB7	15	101169708	Missense_Mutation	SNP	G	TCGA-HC-7232-01A-11D-2114-08	25371489	101169708	1361684	36	9607											
TTLL6	284076	broad.mit.edu	37	chr17	46863542	46863542	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ttacctgtttggaggcttggGtggcggccttgtctttctgc	2	16	14	9	1	2	0	0	0	2	0	2	1	2	1	2	5	2	2	2	5	1	5			TCGA-HC-7232-01A-11D-2114-08	TCGA-HC-7232-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82d7dc1-f6b3-4474-93bd-9bfbefe30139	1c5be2f0-5804-4689-903c-022227fc964e	g.chr17:46863542G>A	ENST00000393382.3	-	12	1886	c.1745C>T	c.(1744-1746)aCc>aTc	p.T582I	TTLL6_ENST00000433608.2_Missense_Mutation_p.T275I	NM_001130918.1	NP_001124390.1			tubulin tyrosine ligase-like family, member 6											endometrium(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2)	18						GGAGGCTTGGGTGGCGGCCTT	0.577																																						ENST00000393382.3																			0				endometrium(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2)	18						c.(1744-1746)aCc>aTc		tubulin tyrosine ligase-like family, member 6							382	353	363					17																	46863542		2203	4300	6503	SO:0001583	missense	284076					cilium|microtubule basal body	ATP binding|tubulin binding|tubulin-tyrosine ligase activity	g.chr17:46863542G>A	AK093127	CCDS11537.2, CCDS45724.1	17q21.32	2013-02-14			ENSG00000170703	ENSG00000170703		"Tubulin tyrosine ligase-like family"	26664	protein-coding gene	gene with protein product		610849				15890843	Standard	NM_173623		Approved	FLJ35808	uc021tzm.1	Q8N841	OTTHUMG00000156978	ENST00000393382.3:c.1745C>T	17.37:g.46863542G>A	ENSP00000377043:p.Thr582Ile					TTLL6_ENST00000433608.2_Missense_Mutation_p.T275I	p.T582I	NM_001130918.1	NP_001124390.1	Q8N841	TTLL6_HUMAN			12	1886	-			534						Missense_Mutation	SNP	ENST00000393382.3	37	c.1745C>T	CCDS45724.1	.	.	.	.	.	.	.	.	.	.	G	12.00	1.805772	0.31961	.	.	ENSG00000170703	ENST00000440941;ENST00000305326;ENST00000433608;ENST00000393382	.	.	.	5.63	-3.36	0.04913	.	4.913040	0.00589	N	0.000348	T	0.33556	0.0867	L	0.53249	1.67	0.09310	N	1	B;B;B	0.28713	0.112;0.22;0.131	B;B;B	0.27608	0.024;0.08;0.081	T	0.12811	-1.0533	9	0.33940	T	0.23	.	2.0048	0.03475	0.1541:0.3723:0.219:0.2546	.	534;335;275	Q8N841;D3DTW0;G5E937	TTLL6_HUMAN;.;.	I	582;275;260;534	.	ENSP00000302547:T275I	T	-	2	0	TTLL6	44218541	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.072000	0.11486	-0.132000	0.11557	-0.264000	0.10439	ACC		0.577	TTLL6-003	KNOWN	downstream_ATG|non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346939.3	NM_173623		13	530	0	0	0	0.457914	0	13	530					A	46863542	G	A	46863542	3	1	208	1	0	0	0	0	1	0	0	0	16728	1261	44	3	946	3	TTLL6	17	46863542	Missense_Mutation	SNP	G	TCGA-HC-7232-01A-11D-2114-08		46863542	34331668	37	9608											
KIF2B	84643	broad.mit.edu	37	chr17	51901055	51901055	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tctgcgtctgcgtgaggaagCggcctctcaaccagcgagag	8	7	14	12	4	3	2	1	1	3	1	4	4	3	3	2	2	5	0	2	2	2	0			TCGA-HC-7232-01A-11D-2114-08	TCGA-HC-7232-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82d7dc1-f6b3-4474-93bd-9bfbefe30139	1c5be2f0-5804-4689-903c-022227fc964e	g.chr17:51901055C>T	ENST00000268919.4	+	1	817	c.661C>T	c.(661-663)Cgg>Tgg	p.R221W		NM_032559.4	NP_115948.4	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	221	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|regulation of chromosome segregation (GO:0051983)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.R221W(1)		NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						CGTGAGGAAGCGGCCTCTCAA	0.547																																						ENST00000268919.4																			1	Substitution - Missense(1)	p.R221W(1)	endometrium(1)	NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						c.(661-663)Cgg>Tgg		kinesin family member 2B							89	75	80					17																	51901055		2203	4300	6503	SO:0001583	missense	84643				blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity	g.chr17:51901055C>T	AF333335	CCDS32685.1	17q22	2014-08-12			ENSG00000141200	ENSG00000141200		"Kinesins"	29443	protein-coding gene	gene with protein product		615142				11416179	Standard	NM_032559		Approved		uc002iua.2	Q8N4N8	OTTHUMG00000177756	ENST00000268919.4:c.661C>T	17.37:g.51901055C>T	ENSP00000268919:p.Arg221Trp						p.R221W	NM_032559.4	NP_115948.4	Q8N4N8	KIF2B_HUMAN			1	817	+			221			Kinesin-motor.		Q96MA2|Q9BXG6	Missense_Mutation	SNP	ENST00000268919.4	37	c.661C>T	CCDS32685.1	.	.	.	.	.	.	.	.	.	.	C	16.99	3.275044	0.59649	.	.	ENSG00000141200	ENST00000268919;ENST00000416491	D	0.85339	-1.97	5.37	1.71	0.24356	Kinesin, motor domain (4);	0.000000	0.48286	D	0.000189	D	0.95040	0.8394	H	0.99746	4.745	0.38802	D	0.955222	D	0.89917	1.0	D	0.97110	1.0	D	0.93488	0.6833	10	0.87932	D	0	.	7.9675	0.30109	0.3653:0.5526:0.0:0.0822	.	221	Q8N4N8	KIF2B_HUMAN	W	221;144	ENSP00000268919:R221W	ENSP00000268919:R221W	R	+	1	2	KIF2B	49256054	0.989000	0.36119	0.993000	0.49108	0.983000	0.72400	0.363000	0.20301	0.712000	0.32039	0.655000	0.94253	CGG		0.547	KIF2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438854.1	NM_032559		8	19	0	0	0	0.335167	0	8	19					T	51901055	C	T	51901055	3	4	208	1	0	0	0	0	1	0	0	0	8298	759	27	1	663	1	KIF2B	17	51901055	Missense_Mutation	SNP	C	TCGA-HC-7232-01A-11D-2114-08	5037513	51901055	29294155	38	9609											
UHRF1	29128	broad.mit.edu	37	chr19	4930834	4930834	+	RNA	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	ccgggacgagccctgcagctCcacgtccaggccggcgctgg	5	4	15	17	5	0	0	0	0	0	0	2	2	2	1	5	4	3	3	5	4	0	0			TCGA-HC-7232-01A-11D-2114-08	TCGA-HC-7232-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82d7dc1-f6b3-4474-93bd-9bfbefe30139	1c5be2f0-5804-4689-903c-022227fc964e	g.chr19:4930834C>G	ENST00000592666.1	+	0	1091				MIR4747_ENST00000584057.1_RNA			Q96T88	UHRF1_HUMAN	ubiquitin-like with PHD and ring finger domains 1						cell cycle (GO:0007049)|cell proliferation (GO:0008283)|DNA repair (GO:0006281)|histone monoubiquitination (GO:0010390)|histone ubiquitination (GO:0016574)|maintenance of DNA methylation (GO:0010216)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of DNA topoisomerase (ATP-hydrolyzing) activity (GO:2000373)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein autoubiquitination (GO:0051865)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|transcription, DNA-templated (GO:0006351)	euchromatin (GO:0000791)|heterochromatin (GO:0000792)|nuclear chromatin (GO:0000790)|nuclear heterochromatin (GO:0005720)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)|replication fork (GO:0005657)	core promoter proximal region sequence-specific DNA binding (GO:0000987)|hemi-methylated DNA-binding (GO:0044729)|histone binding (GO:0042393)|identical protein binding (GO:0042802)|ligase activity (GO:0016874)|methyl-CpG binding (GO:0008327)|methylated histone binding (GO:0035064)|nucleosomal histone binding (GO:0031493)|sequence-specific DNA binding transcription factor activity (GO:0003700)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|upper_aerodigestive_tract(2)	16				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0276)		CCCTGCAGCTCCACGTCCAGG	0.647																																						ENST00000592666.1																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|upper_aerodigestive_tract(2)	16								ubiquitin-like with PHD and ring finger domains 1							58	66	63					19																	4930834		2128	4212	6340			29128				cell cycle|cell proliferation|DNA repair|regulation of transcription from RNA polymerase II promoter	nucleus	acid-amino acid ligase activity|methyl-CpG binding|methylated histone residue binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:4930834C>G	AF129507	CCDS74262.1, CCDS74263.1	19p13.3	2012-04-20	2008-08-14		ENSG00000034063	ENSG00000276043		"RING-type (C3HC4) zinc fingers"	12556	protein-coding gene	gene with protein product		607990				10646863	Standard	NM_001048201		Approved	ICBP90, Np95, FLJ21925, RNF106	uc002mbo.3	Q96T88			19.37:g.4930834C>G										Q96T88	UHRF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0276)	0	1091	+								A0JBR2|A8K024|B2RBA9|Q2HIX7|Q8J022|Q9H6S6|Q9P115|Q9P1U7	RNA	SNP	ENST00000592666.1	37			.	.	.	.	.	.	.	.	.	.	C	12.94	2.088276	0.36855	.	.	ENSG00000034063	ENST00000262952;ENST00000455180;ENST00000543616;ENST00000398240	.	.	.	4.15	4.15	0.48705	Domain of unknown function DUF3590 (1);	0.441622	0.24193	N	0.040694	T	0.61375	0.2342	L	0.54323	1.7	0.30103	N	0.8072429999999999	D;P	0.63880	0.993;0.951	P;P	0.58520	0.815;0.84	T	0.73154	-0.4072	8	0.72032	D	0.01	-11.3305	11.4799	0.50320	0.0:0.8182:0.1818:0.0	.	185;172	Q2HIX7;Q96T88	.;UHRF1_HUMAN	C	172;172;172;185	.	ENSP00000262952:S172C	S	+	2	0	UHRF1	4881834	0.927000	0.31430	0.919000	0.36401	0.052000	0.14988	1.737000	0.38197	2.153000	0.67306	0.561000	0.74099	TCC		0.647	UHRF1-006	KNOWN	sequence_error|basic	processed_transcript	processed_transcript	OTTHUMT00000450444.1	NM_001048201		29	82	0	0	0	0.796494	0	29	82					G	4930834	C	G	4930834	1	3	208	0	1	0	0	0	0	0	0	0	16964	855	30	5		5	UHRF1	19	4930834	RNA	SNP	C	TCGA-HC-7232-01A-11D-2114-08		4930834	54198149	39	9610											
ZNF780B	163131	broad.mit.edu	37	chr19	40541898	40541898	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgatgctgaataagatttgAaccacgattaaaggctttcc	13	13	8	7	1	0	4	0	3	0	1	1	5	1	4	2	1	2	2	2	1	5	5			TCGA-HC-7232-01A-11D-2114-08	TCGA-HC-7232-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82d7dc1-f6b3-4474-93bd-9bfbefe30139	1c5be2f0-5804-4689-903c-022227fc964e	g.chr19:40541898A>C	ENST00000434248.1	-	5	933	c.868T>G	c.(868-870)Tca>Gca	p.S290A	ZNF780B_ENST00000221355.6_Missense_Mutation_p.S142A	NM_001005851.2	NP_001005851.1	Q9Y6R6	Z780B_HUMAN	zinc finger protein 780B	290					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	23	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					ATAAGATTTGAACCACGATTA	0.368																																						ENST00000434248.1																			0				endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	23						c.(868-870)Tca>Gca		zinc finger protein 780B							110	115	114					19																	40541898		2203	4300	6503	SO:0001583	missense	163131				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:40541898A>C	AK127063	CCDS46077.1	19q13.2	2013-01-08	2006-08-15	2006-08-15	ENSG00000128000	ENSG00000128000		"Zinc fingers, C2H2-type", "-"	33109	protein-coding gene	gene with protein product			"zinc finger protein 779"	ZNF779			Standard	NM_001005851		Approved		uc002omu.3	Q9Y6R6	OTTHUMG00000155118	ENST00000434248.1:c.868T>G	19.37:g.40541898A>C	ENSP00000391641:p.Ser290Ala					ZNF780B_ENST00000221355.6_Missense_Mutation_p.S142A	p.S290A	NM_001005851.2	NP_001005851.1	Q9Y6R6	Z780B_HUMAN			5	933	-	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)		290					B9EH00	Missense_Mutation	SNP	ENST00000434248.1	37	c.868T>G	CCDS46077.1	.	.	.	.	.	.	.	.	.	.	A	13.33	2.204851	0.38905	.	.	ENSG00000128000	ENST00000434248;ENST00000221355	T;T	0.57752	0.38;0.38	2.21	1.12	0.20585	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.43211	0.1237	L	0.48986	1.54	0.09310	N	1	B	0.10296	0.003	B	0.14023	0.01	T	0.36089	-0.9762	9	0.48119	T	0.1	.	6.154	0.20328	0.7391:0.2609:0.0:0.0	.	290	Q9Y6R6	Z780B_HUMAN	A	290;142	ENSP00000391641:S290A;ENSP00000221355:S142A	ENSP00000221355:S142A	S	-	1	0	ZNF780B	45233738	0.000000	0.05858	0.000000	0.03702	0.915000	0.54546	-0.428000	0.06991	-0.000000	0.14550	0.260000	0.18958	TCA		0.368	ZNF780B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338466.1	NM_001005851		3	95	0	0	0	0.27861	0	3	95					C	40541898	A	C	40541898	3	2	208	1	0	0	0	0	1	0	0	0	18150	246	9	5	1637	5	ZNF780B	19	40541898	Missense_Mutation	SNP	A	TCGA-HC-7232-01A-11D-2114-08	35611064	40541898	18587085	40	9611			1	22		2	2	15	N	G_A	2.306417e-05
ZNF780B	163131	broad.mit.edu	37	chr19	40541912	40541912	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gatttgaaccacgattaaagGctttcccacactccttacat	12	12	5	12	1	0	1	0	1	0	0	2	3	2	1	3	1	2	1	3	1	4	4	rs139701679	byFrequency	TCGA-HC-7232-01A-11D-2114-08	TCGA-HC-7232-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82d7dc1-f6b3-4474-93bd-9bfbefe30139	1c5be2f0-5804-4689-903c-022227fc964e	g.chr19:40541912G>C	ENST00000434248.1	-	5	919	c.854C>G	c.(853-855)gCc>gGc	p.A285G	ZNF780B_ENST00000221355.6_Missense_Mutation_p.A137G	NM_001005851.2	NP_001005851.1	Q9Y6R6	Z780B_HUMAN	zinc finger protein 780B	285					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	23	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					ACGATTAAAGGCTTTCCCACA	0.373													g|||	2	0.000399361	0.0015	0	5008	,	,		21938	0		0	False		,,,				2504	0					ENST00000434248.1																			0				endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	23						c.(853-855)gCc>gGc		zinc finger protein 780B							111	117	115					19																	40541912		2203	4300	6503	SO:0001583	missense	163131				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:40541912G>C	AK127063	CCDS46077.1	19q13.2	2013-01-08	2006-08-15	2006-08-15	ENSG00000128000	ENSG00000128000		"Zinc fingers, C2H2-type", "-"	33109	protein-coding gene	gene with protein product			"zinc finger protein 779"	ZNF779			Standard	NM_001005851		Approved		uc002omu.3	Q9Y6R6	OTTHUMG00000155118	ENST00000434248.1:c.854C>G	19.37:g.40541912G>C	ENSP00000391641:p.Ala285Gly					ZNF780B_ENST00000221355.6_Missense_Mutation_p.A137G	p.A285G	NM_001005851.2	NP_001005851.1	Q9Y6R6	Z780B_HUMAN			5	919	-	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)		285					B9EH00	Missense_Mutation	SNP	ENST00000434248.1	37	c.854C>G	CCDS46077.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	g	11.97	1.796160	0.31777	.	.	ENSG00000128000	ENST00000434248;ENST00000221355	T;T	0.52295	0.67;0.67	2.21	-0.286	0.12862	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.37073	0.0990	L	0.41573	1.285	0.09310	N	0.999997	B	0.10296	0.003	B	0.14023	0.01	T	0.28138	-1.0053	9	0.44086	T	0.13	.	10.2069	0.43118	0.0:0.6675:0.3325:0.0	.	285	Q9Y6R6	Z780B_HUMAN	G	285;137	ENSP00000391641:A285G;ENSP00000221355:A137G	ENSP00000221355:A137G	A	-	2	0	ZNF780B	45233752	0.000000	0.05858	0.499000	0.27577	0.707000	0.40811	-1.013000	0.03645	-0.287000	0.09064	-0.648000	0.03929	GCC		0.373	ZNF780B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338466.1	NM_001005851		4	88	0	0	0	0.335167	0	4	88					C	40541912	G	C	40541912	3	2	208	1	0	0	0	0	1	0	0	0	18150	1203	42	5	1651	5	ZNF780B	19	40541912	Missense_Mutation	SNP	G	TCGA-HC-7232-01A-11D-2114-08	14	40541912	18587071	41	9612			1	22		2	2	15	N	G_A	2.306417e-05
IRGQ	126298	broad.mit.edu	37	chr19	44096224	44096224	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcacagcctcagcatcagccCgcatctcatcgagagcctgc	9	6	9	17	2	3	1	3	0	1	1	5	2	3	1	3	0	5	3	3	0	0	0			TCGA-HC-7232-01A-11D-2114-08	TCGA-HC-7232-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82d7dc1-f6b3-4474-93bd-9bfbefe30139	1c5be2f0-5804-4689-903c-022227fc964e	g.chr19:44096224C>T	ENST00000602269.1	-	2	2011	c.1826G>A	c.(1825-1827)cGg>cAg	p.R609Q	IRGQ_ENST00000601520.1_Intron|L34079.2_ENST00000594374.1_Intron|IRGQ_ENST00000422989.1_Missense_Mutation_p.R609Q			Q8WZA9	IRGQ_HUMAN	immunity-related GTPase family, Q	609	Ala-rich.									endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(3)	18		Prostate(69;0.0199)				AGCATCAGCCCGCATCTCATC	0.672																																						ENST00000422989.1																			0				endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(3)	18						c.(1825-1827)cGg>cAg		immunity-related GTPase family, Q							58	67	64					19																	44096224		2201	4295	6496	SO:0001583	missense	126298						protein binding	g.chr19:44096224C>T	AF322648	CCDS33040.1	19q13.31	2013-07-03	2005-10-31	2005-10-31		ENSG00000167378			24868	protein-coding gene	gene with protein product			"immunity-related GTPase family, Q1"	IRGQ1		16277747	Standard	NM_001007561		Approved	FKSG27	uc010eiv.2	Q8WZA9		ENST00000602269.1:c.1826G>A	19.37:g.44096224C>T	ENSP00000472250:p.Arg609Gln					L34079.2_ENST00000594374.1_Intron|IRGQ_ENST00000602269.1_Missense_Mutation_p.R609Q|IRGQ_ENST00000601520.1_Intron	p.R609Q	NM_001007561.2	NP_001007562.1	Q8WZA9	IRGQ_HUMAN			3	1981	-		Prostate(69;0.0199)	609			Ala-rich.		B2RNP3	Missense_Mutation	SNP	ENST00000602269.1	37	c.1826G>A	CCDS33040.1	.	.	.	.	.	.	.	.	.	.	C	0.646	-0.811314	0.02798	.	.	ENSG00000167378	ENST00000422989	T	0.42131	0.98	4.9	-9.8	0.00490	.	1.952540	0.02394	N	0.080018	T	0.14614	0.0353	N	0.02011	-0.69	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.20940	-1.0260	10	0.25751	T	0.34	-6.757	6.951	0.24546	0.1997:0.3329:0.0:0.4674	.	609	Q8WZA9	IRGQ_HUMAN	Q	609	ENSP00000387535:R609Q	ENSP00000387535:R609Q	R	-	2	0	IRGQ	48788064	0.002000	0.14202	0.156000	0.22583	0.020000	0.10135	-3.362000	0.00497	-3.136000	0.00234	-1.194000	0.01681	CGG		0.672	IRGQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463205.1	NM_001007561		4	145	0	0	0	0.184627	0	4	145					T	44096224	C	T	44096224	3	4	208	1	0	0	0	0	1	0	0	0	7839	652	23	2	49	2	IRGQ	19	44096224	Missense_Mutation	SNP	C	TCGA-HC-7232-01A-11D-2114-08	3554312	44096224	15032759	42	9613											
SIGLEC11	114132	broad.mit.edu	37	chr19	50462138	50462138	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aggaccgggagggatgtgccGttcccgaggttttccaggac	7	8	16	10	3	0	0	0	0	0	0	2	5	2	4	4	5	1	2	4	5	0	3	rs374104181|rs545385303	byFrequency	TCGA-HC-7232-01A-11D-2114-08	TCGA-HC-7232-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82d7dc1-f6b3-4474-93bd-9bfbefe30139	1c5be2f0-5804-4689-903c-022227fc964e	g.chr19:50462138G>A	ENST00000447370.2	-	7	1215	c.1125C>T	c.(1123-1125)aaC>aaT	p.N375N	SIGLEC11_ENST00000426971.2_Silent_p.N375N|CTC-326K19.6_ENST00000451973.1_5'Flank	NM_052884.2	NP_443116.2	Q96RL6	SIG11_HUMAN	sialic acid binding Ig-like lectin 11	375	Ig-like C2-type 3.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(6)|pancreas(1)|prostate(1)|skin(1)	32		all_lung(116;0.00318)|all_neural(266;0.107)|Ovarian(192;0.17)		GBM - Glioblastoma multiforme(134;0.00107)|OV - Ovarian serous cystadenocarcinoma(262;0.00517)		GGGATGTGCCGTTCCCGAGGT	0.662													G|||	1	0.000199681	8e-04	0	5008	,	,		16669	0		0	False		,,,				2504	0					ENST00000447370.2																			0				breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(6)|pancreas(1)|prostate(1)|skin(1)	32						c.(1123-1125)aaC>aaT		sialic acid binding Ig-like lectin 11		G	,	0,4406		0,0,2203	36	40	39		1125,1125	-4.3	0	19		39	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	SIGLEC11	NM_001135163.1,NM_052884.2	,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,	375/603,375/699	50462138	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	114132				cell adhesion	integral to membrane	sugar binding	g.chr19:50462138G>A	AF337818	CCDS12790.2, CCDS46150.1	19q13.3	2013-01-29			ENSG00000161640	ENSG00000161640		"Sialic acid binding Ig-like lectins", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	15622	protein-coding gene	gene with protein product		607157				11986327	Standard	NM_052884		Approved		uc010ybi.2	Q96RL6	OTTHUMG00000157077	ENST00000447370.2:c.1125C>T	19.37:g.50462138G>A						SIGLEC11_ENST00000426971.2_Silent_p.N375N	p.N375N	NM_052884.2	NP_443116.2	Q96RL6	SIG11_HUMAN		GBM - Glioblastoma multiforme(134;0.00107)|OV - Ovarian serous cystadenocarcinoma(262;0.00517)	7	1215	-		all_lung(116;0.00318)|all_neural(266;0.107)|Ovarian(192;0.17)	375			Ig-like C2-type 3.			Silent	SNP	ENST00000447370.2	37	c.1125C>T	CCDS12790.2	.	.	.	.	.	.	.	.	.	.	G	2.267	-0.367882	0.05069	0.0	1.16E-4	ENSG00000161640	ENST00000426971	.	.	.	3.14	-4.34	0.03666	.	.	.	.	.	T	0.31040	0.0784	.	.	.	0.09310	N	0.999997	.	.	.	.	.	.	T	0.34229	-0.9837	4	.	.	.	.	9.7156	0.40272	0.3795:0.0:0.6205:0.0	.	.	.	.	M	365	.	.	T	-	2	0	SIGLEC11	55153950	0.000000	0.05858	0.000000	0.03702	0.026000	0.11368	-1.546000	0.02188	-1.227000	0.02571	-0.378000	0.06908	ACG		0.662	SIGLEC11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000347382.1	NM_052884		3	45	0	0	0	0.150653	0	3	45					A	50462138	G	A	50462138	2	1	208	1	0	0	0	0	0	0	0	1	14307	1136	40	1		1	SIGLEC11	19	50462138	Silent	SNP	G	TCGA-HC-7232-01A-11D-2114-08	6365914	50462138	8666845	43	9614											
FPR2	2358	broad.mit.edu	37	chr19	52272405	52272405	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccagttttcctctttttgaCtacagtaactattccaaatg	10	16	5	10	0	1	1	0	1	1	0	3	1	3	1	3	0	2	2	3	0	4	8			TCGA-HC-7232-01A-11D-2114-08	TCGA-HC-7232-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82d7dc1-f6b3-4474-93bd-9bfbefe30139	1c5be2f0-5804-4689-903c-022227fc964e	g.chr19:52272405C>A	ENST00000598776.1	+	2	1266	c.494C>A	c.(493-495)aCt>aAt	p.T165N	FPR2_ENST00000340023.6_Missense_Mutation_p.T165N|FPR2_ENST00000598953.1_Missense_Mutation_p.T165N	NM_001462.3	NP_001453.1	P25090	FPR2_HUMAN	formyl peptide receptor 2	165					cell adhesion (GO:0007155)|cellular component movement (GO:0006928)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|N-formyl peptide receptor activity (GO:0004982)			endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	33						CTCTTTTTGACTACAGTAACT	0.512																																						ENST00000598776.1																			0				endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	33						c.(493-495)aCt>aAt		formyl peptide receptor 2							123	117	119					19																	52272405		2203	4300	6503	SO:0001583	missense	2358				cell adhesion|cellular component movement|chemotaxis|inflammatory response	integral to membrane|plasma membrane	N-formyl peptide receptor activity	g.chr19:52272405C>A	M88107	CCDS12840.1	19q13.3-q13.4	2012-08-10	2008-04-17	2008-04-17		ENSG00000171049		"GPCR / Class A : Formyl peptide receptors", "GPCR / Class A : Leukotriene receptors"	3827	protein-coding gene	gene with protein product		136538	"formyl peptide receptor-like 1"	FPRL1		9054386	Standard	NM_001462		Approved	LXA4R, HM63, FPRH2, FMLPX, FPR2A, FMLP-R-II, ALXR	uc002pxr.3	P25090		ENST00000598776.1:c.494C>A	19.37:g.52272405C>A	ENSP00000468897:p.Thr165Asn					FPR2_ENST00000340023.6_Missense_Mutation_p.T165N|FPR2_ENST00000598953.1_Missense_Mutation_p.T165N	p.T165N	NM_001462.3	NP_001453.1	P25090	FPR2_HUMAN			2	1266	+			165					A8K3E2	Missense_Mutation	SNP	ENST00000598776.1	37	c.494C>A	CCDS12840.1	.	.	.	.	.	.	.	.	.	.	.	9.770	1.172560	0.21704	.	.	ENSG00000171049	ENST00000340023	T	0.71934	-0.61	3.62	1.32	0.21799	GPCR, rhodopsin-like superfamily (1);	0.396359	0.23832	U	0.044128	T	0.63200	0.2491	M	0.65498	2.005	0.25522	N	0.987359	B	0.17852	0.024	B	0.29598	0.104	T	0.49447	-0.8939	10	0.18276	T	0.48	.	6.1861	0.20498	0.3792:0.4358:0.185:0.0	.	165	P25090	FPR2_HUMAN	N	165	ENSP00000340191:T165N	ENSP00000340191:T165N	T	+	2	0	FPR2	56964217	0.809000	0.29036	0.000000	0.03702	0.002000	0.02628	1.459000	0.35234	0.290000	0.22444	-0.479000	0.04858	ACT		0.512	FPR2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466912.2	NM_001005738		3	108	1	0	0.115264	0.115264	0.122357	3	108					A	52272405	C	A	52272405	3	1	208	1	0	0	0	0	1	0	0	0	6039	565	20	5	496	5	FPR2	19	52272405	Missense_Mutation	SNP	C	TCGA-HC-7232-01A-11D-2114-08	1810267	52272405	6856578	44	9615											
ZNF416	55659	broad.mit.edu	37	chr19	58084554	58084554	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tttgctagattcataaagccTttttccagtgcagactctag	10	15	7	9	0	2	2	1	0	1	2	3	2	3	2	2	0	3	2	2	0	4	7			TCGA-HC-7232-01A-11D-2114-08	TCGA-HC-7232-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82d7dc1-f6b3-4474-93bd-9bfbefe30139	1c5be2f0-5804-4689-903c-022227fc964e	g.chr19:58084554T>C	ENST00000196489.3	-	4	940	c.718A>G	c.(718-720)Agg>Ggg	p.R240G		NM_017879.1	NP_060349.1	Q9BWM5	ZN416_HUMAN	zinc finger protein 416	240					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(3)|large_intestine(5)|lung(12)|prostate(1)	22		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0259)		TCATAAAGCCTTTTTCCAGTG	0.473																																						ENST00000196489.3																			0				breast(1)|endometrium(3)|large_intestine(5)|lung(12)|prostate(1)	22						c.(718-720)Agg>Ggg		zinc finger protein 416							161	158	159					19																	58084554		2203	4300	6503	SO:0001583	missense	55659				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58084554T>C	BC000130	CCDS12954.1	19q13.4	2013-01-08				ENSG00000083817		"Zinc fingers, C2H2-type", "-"	20645	protein-coding gene	gene with protein product							Standard	NM_017879		Approved	FLJ20557	uc002qpf.3	Q9BWM5		ENST00000196489.3:c.718A>G	19.37:g.58084554T>C	ENSP00000196489:p.Arg240Gly						p.R240G	NM_017879.1	NP_060349.1	Q9BWM5	ZN416_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0259)	4	940	-		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156)	240					Q9NWW8	Missense_Mutation	SNP	ENST00000196489.3	37	c.718A>G	CCDS12954.1	.	.	.	.	.	.	.	.	.	.	T	5.867	0.344185	0.11126	.	.	ENSG00000083817	ENST00000196489;ENST00000359489;ENST00000428052	T	0.33654	1.4	3.7	0.743	0.18347	Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.29223	0.0727	L	0.48218	1.51	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.27262	-1.0079	9	0.59425	D	0.04	.	7.2143	0.25951	0.0:0.2593:0.0:0.7407	.	240	Q9BWM5	ZN416_HUMAN	G	240;226;220	ENSP00000196489:R240G	ENSP00000196489:R240G	R	-	1	2	ZNF416	62776366	0.000000	0.05858	0.009000	0.14445	0.020000	0.10135	-0.055000	0.11807	0.118000	0.18165	0.533000	0.62120	AGG		0.473	ZNF416-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466787.1	NM_017879		4	196	0	0	0	0.150653	0	4	196					C	58084554	T	C	58084554	3	2	208	1	0	0	0	0	1	0	0	0	17890	1608	56	4	1070	4	ZNF416	19	58084554	Missense_Mutation	SNP	T	TCGA-HC-7232-01A-11D-2114-08	5812149	58084554	1044429	45	9616											
VPS16	64601	broad.mit.edu	37	chr20	2846119	2846119	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agagaagttttccaagagcaAgaaatcacccattggctacc	15	8	8	10	0	1	3	1	0	0	3	2	4	2	3	3	1	2	3	3	1	5	4			TCGA-HC-7232-01A-11D-2114-08	TCGA-HC-7232-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82d7dc1-f6b3-4474-93bd-9bfbefe30139	1c5be2f0-5804-4689-903c-022227fc964e	g.chr20:2846119A>G	ENST00000380445.3	+	22	2321	c.2249A>G	c.(2248-2250)aAg>aGg	p.K750R	VPS16_ENST00000380469.3_Missense_Mutation_p.K606R|PTPRA_ENST00000380393.3_Intron|VPS16_ENST00000380443.3_Missense_Mutation_p.K436R	NM_022575.2	NP_072097.2	Q9H269	VPS16_HUMAN	vacuolar protein sorting 16 homolog (S. cerevisiae)	750					intracellular protein transport (GO:0006886)|viral entry into host cell (GO:0046718)	actin filament (GO:0005884)|axon (GO:0030424)|early endosome (GO:0005769)|HOPS complex (GO:0030897)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|recycling endosome (GO:0055037)				NS(3)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	37						TCCAAGAGCAAGAAATCACCC	0.562																																						ENST00000380445.3																			0				NS(3)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	37						c.(2248-2250)aAg>aGg		vacuolar protein sorting 16 homolog (S. cerevisiae)							52	48	49					20																	2846119		2203	4300	6503	SO:0001583	missense	64601				intracellular protein transport	early endosome|HOPS complex|late endosome membrane|lysosomal membrane|recycling endosome		g.chr20:2846119A>G	AF308801	CCDS13036.1, CCDS13037.1	20p13	2009-07-07	2009-07-07	2009-07-07	ENSG00000215305	ENSG00000215305			14584	protein-coding gene	gene with protein product		608550					Standard	NM_022575		Approved		uc002whe.3	Q9H269	OTTHUMG00000031714	ENST00000380445.3:c.2249A>G	20.37:g.2846119A>G	ENSP00000369810:p.Lys750Arg					VPS16_ENST00000380469.3_Missense_Mutation_p.K606R|PTPRA_ENST00000380393.3_Intron|VPS16_ENST00000380443.3_Missense_Mutation_p.K436R	p.K750R	NM_022575.2	NP_072097.2	Q9H269	VPS16_HUMAN			22	2321	+			750					Q5JUB1|Q8WU31|Q96EE7|Q96N92|Q9H1Q4|Q9H1Q5	Missense_Mutation	SNP	ENST00000380445.3	37	c.2249A>G	CCDS13036.1	.	.	.	.	.	.	.	.	.	.	A	21.0	4.078807	0.76528	.	.	ENSG00000215305	ENST00000380445;ENST00000380469;ENST00000380443	T;T;T	0.48201	0.82;0.82;0.82	5.5	4.41	0.53225	Vps16, C-terminal (1);	0.044335	0.85682	N	0.000000	T	0.54143	0.1840	L	0.39898	1.24	0.80722	D	1	P;D;D;D	0.61080	0.952;0.989;0.976;0.989	P;P;D;P	0.62955	0.823;0.873;0.909;0.873	T	0.53954	-0.8365	10	0.59425	D	0.04	-23.7104	9.4748	0.38864	0.9159:0.0:0.0841:0.0	.	226;436;606;750	A1A4H0;Q5JUA8;Q9H269-2;Q9H269	.;.;.;VPS16_HUMAN	R	750;606;436	ENSP00000369810:K750R;ENSP00000369836:K606R;ENSP00000369808:K436R	ENSP00000369808:K436R	K	+	2	0	VPS16	2794119	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.946000	0.75953	0.919000	0.36945	0.533000	0.62120	AAG		0.562	VPS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077658.2	NM_022575		14	34	0	0	0	0.500413	0	14	34					G	2846119	A	G	2846119	3	3	208	1	0	0	0	0	1	0	0	0	17190	72	3	4	2335	4	VPS16	20	2846119	Missense_Mutation	SNP	A	TCGA-HC-7232-01A-11D-2114-08		2846119	60179401	46	9617											
TOX2	84969	broad.mit.edu	37	chr20	42635234	42635234	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gaagactatgagatccccccGataacacctcccaacctccc	12	6	5	18	1	0	2	0	1	0	2	3	5	3	2	7	0	2	0	7	0	4	2			TCGA-HC-7232-01A-11D-2114-08	TCGA-HC-7232-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82d7dc1-f6b3-4474-93bd-9bfbefe30139	1c5be2f0-5804-4689-903c-022227fc964e	g.chr20:42635234G>A	ENST00000358131.5	+	3	448	c.240G>A	c.(238-240)ccG>ccA	p.P80P	RN7SL443P_ENST00000464331.2_RNA|TOX2_ENST00000341197.4_Silent_p.P71P|TOX2_ENST00000372999.1_Silent_p.P29P|TOX2_ENST00000423191.2_Silent_p.P29P	NM_001098798.1	NP_001092268.1	Q96NM4	TOX2_HUMAN	TOX high mobility group box family member 2	80	Required for transcriptional activation. {ECO:0000250}.				female gonad development (GO:0008585)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to gonadotropin (GO:0034698)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)	26		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.00189)			AGATCCCCCCGATAACACCTC	0.587																																						ENST00000358131.5																			0				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)	26						c.(238-240)ccG>ccA		TOX high mobility group box family member 2							179	144	156					20																	42635234		2203	4300	6503	SO:0001819	synonymous_variant	84969				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr20:42635234G>A	BC007636	CCDS13324.1, CCDS42875.1, CCDS46603.1	20q13.12	2007-03-20	2007-03-20	2007-03-20					16095	protein-coding gene	gene with protein product	"granulosa cell HMG box 1"	611163	"chromosome 20 open reading frame 100"	C20orf100		14764631	Standard	NM_001098796		Approved	dJ1108D11.2, GCX-1	uc010ggo.3	Q96NM4		ENST00000358131.5:c.240G>A	20.37:g.42635234G>A						TOX2_ENST00000423191.1_Silent_p.P29P|TOX2_ENST00000341197.3_Silent_p.P71P|TOX2_ENST00000372999.1_Silent_p.P29P	p.P80P	NM_001098798.1	NP_001092268.1	Q96NM4	TOX2_HUMAN	COAD - Colon adenocarcinoma(18;0.00189)		3	448	+		Myeloproliferative disorder(115;0.00452)	80			Required for transcriptional activation (By similarity).		A8K1J1|E1P5X0|G3XAC7|Q5TE33|Q5TE34|Q5TE35|Q96IC9|Q9BQN5	Silent	SNP	ENST00000358131.5	37	c.240G>A	CCDS42875.1																																																																																				0.587	TOX2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000079329.2			30	72	0	0	0	0.796494	0	30	72					A	42635234	G	A	42635234	2	1	208	1	0	0	0	0	0	0	0	1	16375	1045	37	2		2	TOX2	20	42635234	Silent	SNP	G	TCGA-HC-7232-01A-11D-2114-08	39789115	42635234	20390286	47	9618											
SUSD2	56241	broad.mit.edu	37	chr22	24581635	24581635	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	actggctcctgcagcctccgGtacggctcaggtcagcagtg	6	8	13	14	2	2	0	2	0	0	0	4	0	4	0	3	4	4	5	3	4	1	1			TCGA-HC-7232-01A-11D-2114-08	TCGA-HC-7232-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82d7dc1-f6b3-4474-93bd-9bfbefe30139	1c5be2f0-5804-4689-903c-022227fc964e	g.chr22:24581635G>A	ENST00000358321.3	+	8	1338	c.1077G>A	c.(1075-1077)cgG>cgA	p.R359R		NM_019601.3	NP_062547.1	Q9UGT4	SUSD2_HUMAN	sushi domain containing 2	359	AMOP. {ECO:0000255|PROSITE- ProRule:PRU00347}.				immune response (GO:0006955)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	26						GCAGCCTCCGGTACGGCTCAG	0.697																																						ENST00000358321.3																			0				NS(2)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	26						c.(1075-1077)cgG>cgA		sushi domain containing 2							15	17	16					22																	24581635		2190	4283	6473	SO:0001819	synonymous_variant	56241				immune response	integral to membrane	polysaccharide binding|protein binding|scavenger receptor activity	g.chr22:24581635G>A	AK026431	CCDS13824.1	22q11-q12	2005-08-16			ENSG00000099994	ENSG00000099994			30667	protein-coding gene	gene with protein product		615825				12477932	Standard	NM_019601		Approved	BK65A6.2, FLJ22778	uc002zzn.1	Q9UGT4	OTTHUMG00000150792	ENST00000358321.3:c.1077G>A	22.37:g.24581635G>A							p.R359R	NM_019601.3	NP_062547.1	Q9UGT4	SUSD2_HUMAN			8	1338	+			359			AMOP.		Q9H5Y6	Silent	SNP	ENST00000358321.3	37	c.1077G>A	CCDS13824.1																																																																																				0.697	SUSD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320088.1	NM_019601		10	24	0	0	0	0.335167	0	10	24					A	24581635	G	A	24581635	2	1	208	1	0	0	0	0	0	0	0	1	15405	1248	44	3		3	SUSD2	22	24581635	Silent	SNP	G	TCGA-HC-7232-01A-11D-2114-08		24581635	26722931	48	9619											
STAG2	10735	broad.mit.edu	37	chrX	123179182	123179182	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttacaggattgtctgactcaCaagtcagagcatttcgacat	12	12	8	9	1	3	2	2	1	1	1	4	4	3	3	0	1	2	1	0	1	2	3			TCGA-HC-7232-01A-11D-2114-08	TCGA-HC-7232-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82d7dc1-f6b3-4474-93bd-9bfbefe30139	1c5be2f0-5804-4689-903c-022227fc964e	g.chrX:123179182C>G	ENST00000371160.1	+	8	921	c.631C>G	c.(631-633)Caa>Gaa	p.Q211E	STAG2_ENST00000469481.1_Intron|STAG2_ENST00000371144.3_Missense_Mutation_p.Q211E|STAG2_ENST00000218089.9_Missense_Mutation_p.Q211E|STAG2_ENST00000371157.3_Missense_Mutation_p.Q211E|STAG2_ENST00000371145.3_Missense_Mutation_p.Q211E|STAG2_ENST00000354548.5_Missense_Mutation_p.Q142E	NM_001282418.1	NP_001269347.1	Q8N3U4	STAG2_HUMAN	stromal antigen 2	211					meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of DNA endoreduplication (GO:0032876)|sister chromatid cohesion (GO:0007062)|stem cell maintenance (GO:0019827)	actin cytoskeleton (GO:0015629)|chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	chromatin binding (GO:0003682)			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(9)|lung(21)|ovary(5)|prostate(2)|skin(5)|urinary_tract(4)	78						GTCTGACTCACAAGTCAGAGC	0.353																																						ENST00000371160.1																			0				breast(5)|central_nervous_system(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(9)|lung(21)|ovary(5)|prostate(2)|skin(5)|urinary_tract(4)	78						c.(631-633)Caa>Gaa		stromal antigen 2							151	144	146					X																	123179182		2203	4300	6503	SO:0001583	missense	10735				cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion	chromatin|chromosome, centromeric region|nucleoplasm	protein binding	g.chrX:123179182C>G	Z75331	CCDS14607.1, CCDS43990.1	Xq25	2014-09-17			ENSG00000101972	ENSG00000101972			11355	protein-coding gene	gene with protein product		300826				9305759	Standard	NM_001042750		Approved	SA-2, SCC3B	uc004eua.3	Q8N3U4	OTTHUMG00000022725	ENST00000371160.1:c.631C>G	X.37:g.123179182C>G	ENSP00000360202:p.Gln211Glu					STAG2_ENST00000218089.9_Missense_Mutation_p.Q211E|STAG2_ENST00000469481.1_Intron|STAG2_ENST00000371145.3_Missense_Mutation_p.Q211E|STAG2_ENST00000371157.3_Missense_Mutation_p.Q211E|STAG2_ENST00000354548.5_Missense_Mutation_p.Q142E|STAG2_ENST00000371144.3_Missense_Mutation_p.Q211E	p.Q211E			Q8N3U4	STAG2_HUMAN			8	921	+			211					B1AMT5|D3DTF5|O00540|Q5JTI6|Q68DE9|Q9H1N8	Missense_Mutation	SNP	ENST00000371160.1	37	c.631C>G	CCDS14607.1	.	.	.	.	.	.	.	.	.	.	C	25.2	4.609429	0.87258	.	.	ENSG00000101972	ENST00000218089;ENST00000455404;ENST00000354548;ENST00000371160;ENST00000371157;ENST00000371145;ENST00000371144	T;T;T;T;T;T;T	0.44482	0.92;1.59;1.59;1.59;1.59;0.92;1.59	4.74	4.74	0.60224	STAG (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.56587	0.1995	M	0.87758	2.905	0.80722	D	1	B;B	0.32324	0.364;0.339	B;B	0.39617	0.209;0.305	T	0.62416	-0.6859	10	0.44086	T	0.13	-7.5923	17.2015	0.86907	0.0:1.0:0.0:0.0	.	211;211	Q8N3U4-2;Q8N3U4	.;STAG2_HUMAN	E	211;211;142;211;211;211;211	ENSP00000218089:Q211E;ENSP00000397265:Q211E;ENSP00000346555:Q142E;ENSP00000360202:Q211E;ENSP00000360199:Q211E;ENSP00000360187:Q211E;ENSP00000360186:Q211E	ENSP00000218089:Q211E	Q	+	1	0	STAG2	123006863	1.000000	0.71417	0.998000	0.56505	0.994000	0.84299	6.028000	0.70889	2.071000	0.62044	0.422000	0.28245	CAA		0.353	STAG2-018	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000156159.2	NM_006603		3	142	0	0	0	0.150653	0	3	142					G	123179182	C	G	123179182	3	3	208	1	0	0	0	0	1	0	0	0	15242	479	17	5	653	5	STAG2	23	123179182	Missense_Mutation	SNP	C	TCGA-HC-7232-01A-11D-2114-08		123179182	32091378	49	9620											
MAGEA6	4105	broad.mit.edu	37	chrX	151869994	151869994	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgggaggagctgagtgtgttAgaggtgtttgaggggaggga	8	10	22	1	0	0	3	0	2	0	1	0	7	0	7	0	6	1	3	0	6	1	2			TCGA-HC-7232-01A-11D-2114-08	TCGA-HC-7232-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82d7dc1-f6b3-4474-93bd-9bfbefe30139	1c5be2f0-5804-4689-903c-022227fc964e	g.chrX:151869994A>C	ENST00000329342.5	+	3	909	c.684A>C	c.(682-684)ttA>ttC	p.L228F		NM_005363.2	NP_005354.1	P43360	MAGA6_HUMAN	melanoma antigen family A, 6	228	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.									breast(1)|endometrium(3)|large_intestine(3)|lung(16)|prostate(3)|skin(1)|urinary_tract(1)	28	Acute lymphoblastic leukemia(192;6.56e-05)					TGAGTGTGTTAGAGGTGTTTG	0.527																																						ENST00000329342.5																			0				breast(1)|endometrium(3)|large_intestine(3)|lung(16)|prostate(3)|skin(1)|urinary_tract(1)	28						c.(682-684)ttA>ttC		melanoma antigen family A, 6							159	155	156					X																	151869994		2202	4300	6502	SO:0001583	missense	4105						protein binding	g.chrX:151869994A>C		CCDS76050.1	Xq28	2009-03-13			ENSG00000197172	ENSG00000197172			6804	protein-coding gene	gene with protein product	"MAGE-6 antigen", "melanoma-associated antigen 6", "melanoma antigen family A 6", "cancer/testis antigen family 1, member 6"	300176		MAGE6		8575766	Standard	NM_005363		Approved	CT1.6	uc004ffq.1	P43360	OTTHUMG00000022642	ENST00000329342.5:c.684A>C	X.37:g.151869994A>C	ENSP00000329199:p.Leu228Phe						p.L228F	NM_005363.2	NP_005354.1	P43360	MAGA6_HUMAN			3	909	+	Acute lymphoblastic leukemia(192;6.56e-05)		228			MAGE.		A8IF93|Q6NW44	Missense_Mutation	SNP	ENST00000329342.5	37	c.684A>C	CCDS14708.1	.	.	.	.	.	.	.	.	.	.	a	6.712	0.500072	0.12762	.	.	ENSG00000197172	ENST00000329342;ENST00000457643	T;T	0.08008	3.14;3.14	0.605	-1.21	0.09524	.	.	.	.	.	T	0.09949	0.0244	M	0.68952	2.095	0.09310	N	1	P	0.41929	0.765	B	0.42593	0.392	T	0.12708	-1.0537	8	0.72032	D	0.01	.	.	.	.	.	228	P43360	MAGA6_HUMAN	F	228	ENSP00000329199:L228F;ENSP00000401806:L228F	ENSP00000329199:L228F	L	+	3	2	MAGEA6	151620650	0.001000	0.12720	0.002000	0.10522	0.194000	0.23727	-0.269000	0.08596	-1.214000	0.02614	-1.201000	0.01664	TTA		0.527	MAGEA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058747.2	NM_005363		14	140	0	0	0	0.575678	0	14	140					C	151869994	A	C	151869994	3	2	208	1	0	0	0	0	1	0	0	0	9170	417	15	5	686	5	MAGEA6	23	151869994	Missense_Mutation	SNP	A	TCGA-HC-7232-01A-11D-2114-08	28690812	151869994	3400566	50	9621											
F8	2157	broad.mit.edu	37	chrX	154182174	154182174	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctgctttactcactgtgcatGatgttggaggcttggaactc	7	14	11	9	0	1	1	1	1	0	0	2	3	1	3	0	3	4	4	0	3	2	4			TCGA-HC-7232-01A-11D-2114-08	TCGA-HC-7232-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82d7dc1-f6b3-4474-93bd-9bfbefe30139	1c5be2f0-5804-4689-903c-022227fc964e	g.chrX:154182174G>A	ENST00000360256.4	-	12	2096	c.1896C>T	c.(1894-1896)atC>atT	p.I632I		NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	632	F5/8 type A 2.|Plastocyanin-like 4.				acute-phase response (GO:0006953)|blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	copper ion binding (GO:0005507)|oxidoreductase activity (GO:0016491)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	CACTGTGCATGATGTTGGAGG	0.433																																						ENST00000360256.4																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120						c.(1894-1896)atC>atT		coagulation factor VIII, procoagulant component	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)						219	205	210					X																	154182174		2203	4300	6503	SO:0001819	synonymous_variant	2157				acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding	g.chrX:154182174G>A	M90707	CCDS35457.1, CCDS44026.1	Xq28	2014-09-17	2008-07-29		ENSG00000185010	ENSG00000185010			3546	protein-coding gene	gene with protein product	"Factor VIIIF8B", "hemophilia A"	300841		F8C		6438528, 3935400	Standard	NM_000132		Approved	FVIII, DXS1253E, HEMA	uc004fmt.3	P00451	OTTHUMG00000022688	ENST00000360256.4:c.1896C>T	X.37:g.154182174G>A							p.I632I	NM_000132.3	NP_000123.1	P00451	FA8_HUMAN			12	2096	-	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)		632			F5/8 type A 2.|Plastocyanin-like 4.		Q14286|Q5HY69	Silent	SNP	ENST00000360256.4	37	c.1896C>T	CCDS35457.1																																																																																				0.433	F8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058869.4			8	142	0	0	0	0.38729	0	8	142					A	154182174	G	A	154182174	2	1	208	1	0	0	0	0	0	0	0	1	5350	1280	45	3		3	F8	23	154182174	Silent	SNP	G	TCGA-HC-7232-01A-11D-2114-08	2312180	154182174	1088386	51	9622											
NBPF1	55672	broad.mit.edu	37	chr1	16891388	16891393	+	In_Frame_Del	DEL	CTTCCC	CTTCCC	-																															gatcttcttccccttcttttCttccccttccccttcttttc																										TCGA-HC-7233-01A-11D-2114-08	TCGA-HC-7233-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c9a5dbc-f7f3-43e7-83d1-77b9fb4b8b54	112415c3-8cea-4608-9f55-c5714ac77390	g.chr1:16891388_16891393delCTTCCC	ENST00000430580.2	-	28	3972_3977	c.3085_3090delGGGAAG	c.(3085-3090)gggaagdel	p.GK1029del		NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1	1026	NBPF 6. {ECO:0000255|PROSITE- ProRule:PRU00647}.|Poly-Glu.					cytoplasm (GO:0005737)									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		cccttcttttcttccccttccccttc	0.432																																						ENST00000430580.2																			0											c.(3085-3090)del		neuroblastoma breakpoint family, member 1																																				SO:0001651	inframe_deletion	55672					cytoplasm		g.chr1:16891388_16891393delCTTCCC	AB051480		1p36.13	2013-01-30			ENSG00000219481	ENSG00000219481		"neuroblastoma breakpoint family"	26088	protein-coding gene	gene with protein product		610501				11214970, 16079250	Standard	NM_017940		Approved	FLJ20719, KIAA1693	uc001ayw.4	Q3BBV0	OTTHUMG00000002487	ENST00000430580.2:c.3085_3090delGGGAAG	1.37:g.16891394_16891399delCTTCCC	ENSP00000474456:p.Gly1029_Lys1030del						p.GK1029del	NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)	28	3972_3977	-			1026			NBPF 6.|Poly-Glu.		Q8N4E8|Q9C0H0	In_Frame_Del	DEL	ENST00000430580.2	37	c.3085_3090delGGGAAG																																																																																					0.432	NBPF1-005	NOVEL	upstream_uORF|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000106436.3	NM_017940		7	311						7	311	---	---	---	---	-	16891393	CTTCCC	-	16891388	7	5	209	1	0	1	0	1	0	0	0	0	10192	912	32	0	337	0	NBPF1	1	16891388	In_Frame_Del	DEL	CTTCCC	TCGA-HC-7233-01A-11D-2114-08		16891388	232359233	1	9623											
KIAA0090	23065	broad.mit.edu	37	chr1	19557342	19557342	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggacatgccttcctacctttCgaagccgatatccacacagc	10	9	7	15	2	0	0	0	0	0	0	3	3	2	1	5	1	4	0	5	1	3	4	rs374969388		TCGA-HC-7233-01A-11D-2114-08	TCGA-HC-7233-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c9a5dbc-f7f3-43e7-83d1-77b9fb4b8b54	112415c3-8cea-4608-9f55-c5714ac77390	g.chr1:19557342C>T	ENST00000477853.1	-	17	2102	c.2060G>A	c.(2059-2061)cGa>cAa	p.R687Q	EMC1_ENST00000375208.3_Missense_Mutation_p.R665Q|RP1-43E13.2_ENST00000437898.1_RNA|EMC1_ENST00000375199.3_Missense_Mutation_p.R686Q	NM_001271427.1|NM_001271428.1|NM_015047.2	NP_001258356.1|NP_001258357.1|NP_055862.1	Q8N766	EMC1_HUMAN	ER membrane protein complex subunit 1	687						ER membrane protein complex (GO:0072546)|integral component of membrane (GO:0016021)											TCCTACCTTTCGAAGCCGATA	0.502													C|||	1	0.000199681	0	0	5008	,	,		18265	0.001		0	False		,,,				2504	0					ENST00000477853.1																			0											c.(2059-2061)cGa>cAa		ER membrane protein complex subunit 1		C	GLN/ARG	0,4406		0,0,2203	201	196	198		2060	4.4	1	1		198	1,8599	1.2+/-3.3	0,1,4299	no	missense	KIAA0090	NM_015047.1	43	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	687/994	19557342	1,13005	2203	4300	6503	SO:0001583	missense	23065							g.chr1:19557342C>T		CCDS190.1, CCDS59190.1, CCDS59191.1	1p36.13	2012-05-23	2012-05-23	2012-05-23	ENSG00000127463	ENSG00000127463			28957	protein-coding gene	gene with protein product			"KIAA0090"	KIAA0090		22119785	Standard	NM_015047		Approved		uc001bbo.4	Q8N766	OTTHUMG00000002497	ENST00000477853.1:c.2060G>A	1.37:g.19557342C>T	ENSP00000420608:p.Arg687Gln					EMC1_ENST00000375208.3_Missense_Mutation_p.R665Q|RP1-43E13.2_ENST00000437898.1_RNA|EMC1_ENST00000375199.3_Missense_Mutation_p.R686Q	p.R687Q	NM_001271428.1|NM_015047.1	NP_001258357.1|NP_055862.1					17	2102	-								A8K6F3|Q14700|Q5TG62|Q63HL0|Q63HL3|Q8NBH8	Missense_Mutation	SNP	ENST00000477853.1	37	c.2060G>A	CCDS190.1	.	.	.	.	.	.	.	.	.	.	C	16.73	3.203216	0.58234	0.0	1.16E-4	ENSG00000127463	ENST00000477853;ENST00000375199;ENST00000375208	T;T;T	0.21361	2.02;2.01;2.01	5.27	4.36	0.52297	.	0.131711	0.51477	D	0.000083	T	0.09862	0.0242	N	0.25426	0.745	0.80722	D	1	B;B;P;P	0.48230	0.034;0.164;0.907;0.85	B;B;B;B	0.34038	0.027;0.045;0.174;0.084	T	0.19257	-1.0311	10	0.13853	T	0.58	-3.4762	7.76	0.28946	0.0:0.7529:0.0:0.247	.	665;686;686;687	Q8N766-4;Q8N766-2;Q8N766-3;Q8N766	.;.;.;K0090_HUMAN	Q	687;686;665	ENSP00000420608:R687Q;ENSP00000364345:R686Q;ENSP00000364354:R665Q	ENSP00000364345:R686Q	R	-	2	0	KIAA0090	19429929	0.998000	0.40836	1.000000	0.80357	0.861000	0.49209	3.574000	0.53863	1.351000	0.45789	0.561000	0.74099	CGA		0.502	EMC1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000007076.2	NM_015047		66	175	0	0	0	0.870114	0	66	175					T	19557342	C	T	19557342	3	4	209	1	0	0	0	0	1	0	0	0	8153	884	31	2	949	2	KIAA0090	1	19557342	Missense_Mutation	SNP	C	TCGA-HC-7233-01A-11D-2114-08	2665954	19557342	229693279	2	9624											
AMPD2	271	broad.mit.edu	37	chr1	110171852	110171852	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cggaactgcatctcttcttaGagcacgtgagcaggcagcgc	9	8	12	12	3	2	2	0	1	2	1	3	3	2	3	0	2	5	4	0	2	2	2			TCGA-HC-7233-01A-11D-2114-08	TCGA-HC-7233-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c9a5dbc-f7f3-43e7-83d1-77b9fb4b8b54	112415c3-8cea-4608-9f55-c5714ac77390	g.chr1:110171852G>C	ENST00000256578.3	+	13	2215	c.1855G>C	c.(1855-1857)Gag>Cag	p.E619Q	AMPD2_ENST00000528454.1_Missense_Mutation_p.E501Q|RP5-1160K1.6_ENST00000369843.3_RNA|AMPD2_ENST00000528667.1_Missense_Mutation_p.E619Q|AMPD2_ENST00000526301.1_3'UTR|AMPD2_ENST00000358729.4_Missense_Mutation_p.E544Q|AMPD2_ENST00000342115.4_Missense_Mutation_p.E538Q|AMPD2_ENST00000393688.3_Missense_Mutation_p.E500Q	NM_004037.7	NP_004028.3	Q01433	AMPD2_HUMAN	adenosine monophosphate deaminase 2	619					cell death (GO:0008219)|cyclic purine nucleotide metabolic process (GO:0052652)|energy homeostasis (GO:0097009)|IMP biosynthetic process (GO:0006188)|IMP salvage (GO:0032264)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine-containing compound salvage (GO:0043101)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	AMP deaminase activity (GO:0003876)|metal ion binding (GO:0046872)			breast(1)|large_intestine(3)|ovary(2)|skin(1)	7		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		Lung(183;0.0425)|all cancers(265;0.0884)|Colorectal(144;0.109)|Epithelial(280;0.111)|LUSC - Lung squamous cell carcinoma(189;0.228)		TCTCTTCTTAGAGCACGTGAG	0.607																																						ENST00000256578.3																			0				breast(1)|large_intestine(3)|ovary(2)|skin(1)	7						c.(1855-1857)Gag>Cag		adenosine monophosphate deaminase 2							65	66	66					1																	110171852		2203	4300	6503	SO:0001583	missense	271				purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding	g.chr1:110171852G>C	S47833	CCDS804.1, CCDS805.1, CCDS30796.1, CCDS58016.1	1p13.3	2014-03-03	2010-02-10		ENSG00000116337	ENSG00000116337	3.5.4.6		469	protein-coding gene	gene with protein product	"AMPD isoform L"	102771	"adenosine monophosphate deaminase 2 (isoform L)"			1400401, 24482476	Standard	NM_004037		Approved	SPG63	uc009wfh.2	Q01433	OTTHUMG00000011649	ENST00000256578.3:c.1855G>C	1.37:g.110171852G>C	ENSP00000256578:p.Glu619Gln					AMPD2_ENST00000393688.3_Missense_Mutation_p.E500Q|AMPD2_ENST00000528667.1_Missense_Mutation_p.E619Q|AMPD2_ENST00000528454.1_Missense_Mutation_p.E501Q|RP5-1160K1.6_ENST00000369843.3_RNA|AMPD2_ENST00000358729.4_Missense_Mutation_p.E544Q|AMPD2_ENST00000342115.4_Missense_Mutation_p.E538Q|AMPD2_ENST00000526301.1_3'UTR	p.E619Q	NM_004037.7	NP_004028.3	Q01433	AMPD2_HUMAN		Lung(183;0.0425)|all cancers(265;0.0884)|Colorectal(144;0.109)|Epithelial(280;0.111)|LUSC - Lung squamous cell carcinoma(189;0.228)	13	2215	+		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)	619					B4DK50|B4DZI5|E9PNG0|Q14856|Q14857|Q16686|Q16687|Q16688|Q16729|Q5T693|Q5T695|Q96IA1|Q9UDX8|Q9UDX9|Q9UMU4	Missense_Mutation	SNP	ENST00000256578.3	37	c.1855G>C	CCDS805.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	G|G|G	4.695|4.695|4.695	0.129264|0.129264|0.129264	0.08981|0.08981|0.08981	.|.|.	.|.|.	ENSG00000116337|ENSG00000116337|ENSG00000116337	ENST00000342115;ENST00000528667;ENST00000256578;ENST00000358729;ENST00000528454;ENST00000393688|ENST00000369840|ENST00000476688	D;D;D;D;D;D|.|.	0.81996|.|.	-1.56;-1.56;-1.56;-1.56;-1.56;-1.56|.|.	4.86|4.86|4.86	2.97|2.97|2.97	0.34412|0.34412|0.34412	Adenosine/AMP deaminase (1);|.|.	0.222920|.|.	0.44483|.|.	N|.|.	0.000454|.|.	T|T|.	0.04588|0.04588|.	0.0125|0.0125|.	N|N|N	0.00453|0.00453|0.00453	-1.485|-1.485|-1.485	0.36996|0.36996|0.36996	D|D|D	0.895043|0.895043|0.895043	B;B;B;B|.|.	0.16603|.|.	0.018;0.001;0.003;0.001|.|.	B;B;B;B|.|.	0.16722|.|.	0.016;0.004;0.01;0.006|.|.	T|T|.	0.27502|0.27502|.	-1.0072|-1.0072|.	10|5|.	0.02654|.|.	T|.|.	1|.|.	-23.7547|-23.7547|-23.7547	9.7791|9.7791|9.7791	0.40637|0.40637|0.40637	0.0776:0.1414:0.781:0.0|0.0776:0.1414:0.781:0.0|0.0776:0.1414:0.781:0.0	.|.|.	544;500;619;538|.|.	Q01433-4;Q01433-3;Q01433;Q01433-2|.|.	.;.;AMPD2_HUMAN;.|.|.	Q|T|Y	538;619;619;544;501;500|589|7	ENSP00000345498:E538Q;ENSP00000436541:E619Q;ENSP00000256578:E619Q;ENSP00000351573:E544Q;ENSP00000437164:E501Q;ENSP00000377292:E500Q|.|.	ENSP00000256578:E619Q|.|.	E|R|X	+|+|+	1|2|3	0|0|2	AMPD2|AMPD2|AMPD2	109973375|109973375|109973375	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.079000|0.079000|0.079000	0.17450|0.17450|0.17450	1.368000|1.368000|1.368000	0.34216|0.34216|0.34216	0.633000|0.633000|0.633000	0.30452|0.30452|0.30452	-0.176000|-0.176000|-0.176000	0.13171|0.13171|0.13171	GAG|AGA|TAG		0.607	AMPD2-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390615.1			3	62	0	0	0	0.150653	0	3	62					C	110171852	G	C	110171852	3	2	209	1	0	0	0	0	1	0	0	0	586	943	33	5	1946	5	AMPD2	1	110171852	Missense_Mutation	SNP	G	TCGA-HC-7233-01A-11D-2114-08	90614510	110171852	139078769	3	9625											
TP53BP2	7159	broad.mit.edu	37	chr1	223986246	223986246	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccatggacggaacaactgttGacaactgctgagaacttccg	12	8	10	11	2	0	2	0	2	0	1	1	5	1	4	2	2	5	2	2	2	4	2			TCGA-HC-7233-01A-11D-2114-08	TCGA-HC-7233-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c9a5dbc-f7f3-43e7-83d1-77b9fb4b8b54	112415c3-8cea-4608-9f55-c5714ac77390	g.chr1:223986246G>A	ENST00000343537.7	-	12	1910	c.1619C>T	c.(1618-1620)tCa>tTa	p.S540L	TP53BP2_ENST00000391879.2_Intron|TP53BP2_ENST00000391878.2_Missense_Mutation_p.S411L|TP53BP2_ENST00000498843.1_5'UTR	NM_001031685.2	NP_001026855.2	Q13625	ASPP2_HUMAN	tumor protein p53 binding protein 2	534					cell cycle (GO:0007049)|central nervous system development (GO:0007417)|embryo development ending in birth or egg hatching (GO:0009792)|heart development (GO:0007507)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|negative regulation of cell cycle (GO:0045786)|positive regulation of signal transduction (GO:0009967)|response to ionizing radiation (GO:0010212)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	identical protein binding (GO:0042802)|NF-kappaB binding (GO:0051059)|SH3/SH2 adaptor activity (GO:0005070)			NS(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(2)	29				GBM - Glioblastoma multiforme(131;0.0958)		AACAACTGTTGACAACTGCTG	0.478																																						ENST00000391878.2																			0				NS(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(2)	29						c.(1231-1233)tCa>tTa		tumor protein p53 binding protein, 2							115	119	118					1																	223986246		2203	4300	6503	SO:0001583	missense	7159				apoptosis|cell cycle|induction of apoptosis|negative regulation of cell cycle|signal transduction	nucleus|perinuclear region of cytoplasm	NF-kappaB binding|protein binding|SH3 domain binding|SH3/SH2 adaptor activity	g.chr1:223986246G>A	U09582	CCDS1538.1, CCDS44319.1	1q41	2014-06-24	2014-06-24		ENSG00000143514	ENSG00000143514		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "Ankyrin repeat domain containing"	12000	protein-coding gene	gene with protein product		602143	"tumor protein p53-binding protein, 2"			8668206, 8016121	Standard	NM_005426		Approved	PPP1R13A, ASPP2, 53BP2	uc010pvb.2	Q13625	OTTHUMG00000037379	ENST00000343537.7:c.1619C>T	1.37:g.223986246G>A	ENSP00000341957:p.Ser540Leu					TP53BP2_ENST00000391879.2_Intron|TP53BP2_ENST00000498843.1_5'UTR|TP53BP2_ENST00000343537.7_Missense_Mutation_p.S540L	p.S411L	NM_005426.2	NP_005417.1	Q13625	ASPP2_HUMAN		GBM - Glioblastoma multiforme(131;0.0958)	13	2000	-			534					B4DG66|Q12892|Q86X75|Q96KQ3	Missense_Mutation	SNP	ENST00000343537.7	37	c.1232C>T	CCDS44319.1	.	.	.	.	.	.	.	.	.	.	G	14.49	2.549677	0.45383	.	.	ENSG00000143514	ENST00000391878;ENST00000343537	T;T	0.48201	0.82;0.99	5.88	5.88	0.94601	.	0.226122	0.45361	D	0.000365	T	0.40372	0.1114	N	0.22421	0.69	0.80722	D	1	B;B	0.20671	0.047;0.003	B;B	0.19148	0.024;0.007	T	0.19844	-1.0293	10	0.66056	D	0.02	.	20.2422	0.98381	0.0:0.0:1.0:0.0	.	540;534	B4DG66;Q13625	.;ASPP2_HUMAN	L	411;540	ENSP00000375750:S411L;ENSP00000341957:S540L	ENSP00000341957:S540L	S	-	2	0	TP53BP2	222052869	0.996000	0.38824	0.847000	0.33407	0.135000	0.20990	6.764000	0.74960	2.782000	0.95742	0.655000	0.94253	TCA		0.478	TP53BP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090985.3	NM_001031685, NM_005426		4	108	0	0	0	0.150653	0	4	108					A	223986246	G	A	223986246	3	1	209	1	0	0	0	0	1	0	0	0	16381	1294	45	3	1813	3	TP53BP2	1	223986246	Missense_Mutation	SNP	G	TCGA-HC-7233-01A-11D-2114-08	113814394	223986246	25264375	4	9626											
NMS	129521	broad.mit.edu	37	chr2	101087006	101087006	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggccatctactgcttctgcaTgctacagattccctcctcag	7	12	7	15	0	3	1	1	0	2	1	5	1	5	1	3	1	5	3	3	1	2	4			TCGA-HC-7233-01A-11D-2114-08	TCGA-HC-7233-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c9a5dbc-f7f3-43e7-83d1-77b9fb4b8b54	112415c3-8cea-4608-9f55-c5714ac77390	g.chr2:101087006T>C	ENST00000376865.1	+	1	63	c.56T>C	c.(55-57)aTg>aCg	p.M19T		NM_001011717.1	NP_001011717.1	Q5H8A3	NMS_HUMAN	neuromedin S	19					neuropeptide signaling pathway (GO:0007218)	extracellular region (GO:0005576)				breast(1)|large_intestine(4)|lung(7)|ovary(1)|stomach(1)	14						TGCTTCTGCATGCTACAGATT	0.537																																						ENST00000376865.1																			0				breast(1)|large_intestine(4)|lung(7)|ovary(1)|stomach(1)	14						c.(55-57)aTg>aCg		neuromedin S							340	293	309					2																	101087006		2203	4300	6503	SO:0001583	missense	129521				neuropeptide signaling pathway|regulation of smooth muscle contraction	extracellular region		g.chr2:101087006T>C	AB164464	CCDS33259.1	2q11.2	2013-02-26			ENSG00000204640	ENSG00000204640		"Endogenous ligands"	32203	protein-coding gene	gene with protein product	"prepro-NMS"					15635449	Standard	NM_001011717		Approved		uc002tan.1	Q5H8A3	OTTHUMG00000153142	ENST00000376865.1:c.56T>C	2.37:g.101087006T>C	ENSP00000366061:p.Met19Thr						p.M19T	NM_001011717.1	NP_001011717.1	Q5H8A3	NMS_HUMAN			1	63	+			19						Missense_Mutation	SNP	ENST00000376865.1	37	c.56T>C	CCDS33259.1	.	.	.	.	.	.	.	.	.	.	T	2.473	-0.321513	0.05386	.	.	ENSG00000204640	ENST00000376865	T	0.48201	0.82	4.32	-1.35	0.09114	.	1.237840	0.05634	N	0.582224	T	0.33556	0.0867	L	0.38175	1.15	0.09310	N	1	B	0.15141	0.012	B	0.09377	0.004	T	0.17379	-1.0371	10	0.18276	T	0.48	0.0017	6.2987	0.21101	0.0:0.0972:0.5115:0.3913	.	19	Q5H8A3	NMS_HUMAN	T	19	ENSP00000366061:M19T	ENSP00000366061:M19T	M	+	2	0	NMS	100453438	0.000000	0.05858	0.005000	0.12908	0.872000	0.50106	0.175000	0.16762	-0.297000	0.08934	0.528000	0.53228	ATG		0.537	NMS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329737.1	NM_001011717		12	145	0	0	0	0.411799	0	12	145					C	101087006	T	C	101087006	3	2	209	1	0	0	0	0	1	0	0	0	10502	1464	51	4	58	4	NMS	2	101087006	Missense_Mutation	SNP	T	TCGA-HC-7233-01A-11D-2114-08		101087006	142112367	5	9627											
CREG2	200407	broad.mit.edu	37	chr2	102003787	102003787	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	gtccagctcctcgtccacctCgttggtgacggcccaagaca	7	8	10	16	3	0	2	0	1	0	1	5	2	3	2	5	2	1	2	5	2	1	1			TCGA-HC-7233-01A-11D-2114-08	TCGA-HC-7233-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c9a5dbc-f7f3-43e7-83d1-77b9fb4b8b54	112415c3-8cea-4608-9f55-c5714ac77390	g.chr2:102003787C>G	ENST00000324768.5	-	1	270	c.133G>C	c.(133-135)Gag>Cag	p.E45Q	CREG2_ENST00000495455.1_5'Flank	NM_153836.3	NP_722578.1	Q8IUH2	CREG2_HUMAN	cellular repressor of E1A-stimulated genes 2	45						endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)	FMN binding (GO:0010181)|oxidoreductase activity (GO:0016491)			endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	10						TCGTCCACCTCGTTGGTGACG	0.687																																						ENST00000324768.4																			0				endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	10						c.(133-135)Gag>Cag		cellular repressor of E1A-stimulated genes 2							13	11	12					2																	102003787		2163	4254	6417	SO:0001583	missense	200407					extracellular region	FMN binding	g.chr2:102003787C>G	AB046109	CCDS2052.1	2q12.1	2007-08-01			ENSG00000175874	ENSG00000175874			14272	protein-coding gene	gene with protein product						12408961	Standard	NM_153836		Approved		uc002tba.2	Q8IUH2	OTTHUMG00000130692	ENST00000324768.5:c.133G>C	2.37:g.102003787C>G	ENSP00000315203:p.Glu45Gln						p.E45Q	NM_153836.3	NP_722578.1	Q8IUH2	CREG2_HUMAN			1	270	-			45					Q86X03|Q8N540|Q8N9E3	Missense_Mutation	SNP	ENST00000324768.5	37	c.133G>C	CCDS2052.1	.	.	.	.	.	.	.	.	.	.	C	27.9	4.874792	0.91664	.	.	ENSG00000175874	ENST00000324768	T	0.51325	0.71	4.06	4.06	0.47325	.	0.198942	0.43919	D	0.000518	T	0.60314	0.2259	L	0.53249	1.67	0.42742	D	0.993748	D	0.71674	0.998	P	0.60682	0.878	T	0.64592	-0.6371	10	0.52906	T	0.07	.	15.9821	0.80116	0.0:1.0:0.0:0.0	.	45	Q8IUH2	CREG2_HUMAN	Q	45	ENSP00000315203:E45Q	ENSP00000315203:E45Q	E	-	1	0	CREG2	101370219	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	4.128000	0.57951	2.089000	0.63090	0.484000	0.47621	GAG		0.687	CREG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253188.2	NM_153836		2	3	0	0	0	0.150653	0	2	3					G	102003787	C	G	102003787	3	3	209	1	0	0	0	0	1	0	0	0	3865	893	31	5	755	5	CREG2	2	102003787	Missense_Mutation	SNP	C	TCGA-HC-7233-01A-11D-2114-08	916781	102003787	141195586	6	9628											
SERPINE2	5270	broad.mit.edu	37	chr2	224849663	224849663	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aaatcattgggggcacttgtCgaccctaaagaaatcagaag	15	8	10	8	1	2	2	2	0	0	2	3	3	2	2	1	2	0	1	1	2	5	3			TCGA-HC-7233-01A-11D-2114-08	TCGA-HC-7233-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c9a5dbc-f7f3-43e7-83d1-77b9fb4b8b54	112415c3-8cea-4608-9f55-c5714ac77390	g.chr2:224849663C>T	ENST00000258405.4	-	5	932	c.690G>A	c.(688-690)tcG>tcA	p.S230S	SERPINE2_ENST00000447280.2_Silent_p.S242S|SERPINE2_ENST00000409840.3_Silent_p.S230S|SERPINE2_ENST00000409304.1_Silent_p.S230S	NM_001136528.1|NM_006216.3	NP_001130000.1|NP_006207.1	P07093	GDN_HUMAN	serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 2	230					blood coagulation (GO:0007596)|cerebellar granular layer morphogenesis (GO:0021683)|detection of mechanical stimulus involved in sensory perception (GO:0050974)|innervation (GO:0060384)|long-term synaptic potentiation (GO:0060291)|mating plug formation (GO:0042628)|negative regulation of blood coagulation (GO:0030195)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of plasminogen activation (GO:0010757)|negative regulation of platelet activation (GO:0010544)|negative regulation of platelet aggregation (GO:0090331)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of protein processing (GO:0010955)|negative regulation of proteolysis (GO:0045861)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of sodium ion transport (GO:0010766)|positive regulation of astrocyte differentiation (GO:0048711)|regulation of cell migration (GO:0030334)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of timing of cell differentiation (GO:0048505)|secretion by cell (GO:0032940)|secretory granule organization (GO:0033363)|seminal vesicle epithelium development (GO:0061108)	cytosol (GO:0005829)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extrinsic component of external side of plasma membrane (GO:0031232)|neuromuscular junction (GO:0031594)|platelet alpha granule (GO:0031091)|vesicle (GO:0031982)	glycosaminoglycan binding (GO:0005539)|heparin binding (GO:0008201)|receptor binding (GO:0005102)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(2)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)	17		Renal(207;0.025)|all_lung(227;0.0586)|Lung NSC(271;0.0682)|all_hematologic(139;0.0797)		Epithelial(121;5.68e-10)|all cancers(144;1.9e-07)|Lung(261;0.0088)|LUSC - Lung squamous cell carcinoma(224;0.00902)		GGGCACTTGTCGACCCTAAAG	0.498																																						ENST00000409840.3																			0				breast(2)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)	17						c.(688-690)tcG>tcA		serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 2							110	112	111					2																	224849663		2203	4300	6503	SO:0001819	synonymous_variant	5270				negative regulation of blood coagulation|negative regulation of plasminogen activation|negative regulation of platelet aggregation|positive regulation of astrocyte differentiation|regulation of cell migration	cytosol|extracellular matrix|extracellular space|extrinsic to external side of plasma membrane|neuromuscular junction|platelet alpha granule	heparin binding|receptor binding|serine-type endopeptidase inhibitor activity	g.chr2:224849663C>T	M17783	CCDS2460.1, CCDS46525.1, CCDS46526.1	2q36.1	2014-02-18	2005-08-18		ENSG00000135919	ENSG00000135919		"Serine (or cysteine) peptidase inhibitors"	8951	protein-coding gene	gene with protein product	"glial-derived nexin 1"	177010	"serine (or cysteine) proteinase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 2"	PI7		7665170, 24172014	Standard	NM_006216		Approved	PN1, GDN, PNI, nexin	uc002vnu.2	P07093	OTTHUMG00000133163	ENST00000258405.4:c.690G>A	2.37:g.224849663C>T						SERPINE2_ENST00000409304.1_Silent_p.S230S|SERPINE2_ENST00000447280.2_Silent_p.S242S|SERPINE2_ENST00000258405.4_Silent_p.S230S	p.S230S			P07093	GDN_HUMAN		Epithelial(121;5.68e-10)|all cancers(144;1.9e-07)|Lung(261;0.0088)|LUSC - Lung squamous cell carcinoma(224;0.00902)	6	1350	-		Renal(207;0.025)|all_lung(227;0.0586)|Lung NSC(271;0.0682)|all_hematologic(139;0.0797)	230					B2R6A4|B4DIF2|Q53S15|Q5D0C4	Silent	SNP	ENST00000258405.4	37	c.690G>A	CCDS2460.1																																																																																				0.498	SERPINE2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256865.2	NM_006216		3	54	0	0	0	0.115264	0	3	54					T	224849663	C	T	224849663	2	4	209	1	0	0	0	0	0	0	0	1	14112	871	31	2		2	SERPINE2	2	224849663	Silent	SNP	C	TCGA-HC-7233-01A-11D-2114-08	122845876	224849663	18349710	7	9629											
GPR128	84873	broad.mit.edu	37	chr3	100348538	100348538	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ttgtacagaagagtggaaagGactgagatgtacaattggta	15	10	13	3	0	0	3	0	1	0	3	0	6	0	5	0	3	2	3	0	3	6	5			TCGA-HC-7233-01A-11D-2114-08	TCGA-HC-7233-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c9a5dbc-f7f3-43e7-83d1-77b9fb4b8b54	112415c3-8cea-4608-9f55-c5714ac77390	g.chr3:100348538G>T	ENST00000273352.3	+	2	480	c.212G>T	c.(211-213)gGa>gTa	p.G71V		NM_032787.2	NP_116176.2	Q96K78	GP128_HUMAN	G protein-coupled receptor 128	71					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	56						GAGTGGAAAGGACTGAGATGT	0.388																																					Pancreas(87;185 1975 7223 18722)	ENST00000273352.3																			0				NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	56						c.(211-213)gGa>gTa		G protein-coupled receptor 128							128	133	132					3																	100348538		2203	4300	6503	SO:0001583	missense	84873				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr3:100348538G>T	AK027360	CCDS2938.1	3q12.3	2014-08-08			ENSG00000144820	ENSG00000144820		"-", "GPCR / Class B : Orphans"	19241	protein-coding gene	gene with protein product		612307					Standard	NM_032787		Approved	FLJ14454	uc003duc.3	Q96K78	OTTHUMG00000159083	ENST00000273352.3:c.212G>T	3.37:g.100348538G>T	ENSP00000273352:p.Gly71Val						p.G71V	NM_032787.2	NP_116176.2	Q96K78	GP128_HUMAN			2	480	+			71					Q14D94|Q86SQ2	Missense_Mutation	SNP	ENST00000273352.3	37	c.212G>T	CCDS2938.1	.	.	.	.	.	.	.	.	.	.	G	19.23	3.788271	0.70337	.	.	ENSG00000144820	ENST00000273352	T	0.72835	-0.69	5.11	5.11	0.69529	.	0.000000	0.51477	D	0.000100	D	0.82472	0.5044	M	0.72118	2.19	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.83883	0.0280	10	0.72032	D	0.01	.	13.9068	0.63841	0.0:0.0:1.0:0.0	.	71	Q96K78	GP128_HUMAN	V	71	ENSP00000273352:G71V	ENSP00000273352:G71V	G	+	2	0	GPR128	101831228	0.998000	0.40836	0.997000	0.53966	0.983000	0.72400	4.049000	0.57397	2.664000	0.90586	0.655000	0.94253	GGA		0.388	GPR128-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353236.1			4	105	1	0	5.9392e-07	0.217242	6.81908e-07	4	105					T	100348538	G	T	100348538	3	4	209	1	0	0	0	0	1	0	0	0	6641	1174	41	5	218	5	GPR128	3	100348538	Missense_Mutation	SNP	G	TCGA-HC-7233-01A-11D-2114-08		100348538	97673892	8	9630											
LYAR	55646	broad.mit.edu	37	chr4	4281393	4281393	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aattttgcctttttcctgggAacgttgtcaaaagcactaat	11	15	7	8	1	1	0	1	0	0	0	2	1	2	1	2	1	3	2	2	1	5	6			TCGA-HC-7233-01A-11D-2114-08	TCGA-HC-7233-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c9a5dbc-f7f3-43e7-83d1-77b9fb4b8b54	112415c3-8cea-4608-9f55-c5714ac77390	g.chr4:4281393A>T	ENST00000343470.4	-	5	561	c.321T>A	c.(319-321)gtT>gtA	p.V107V	LYAR_ENST00000452476.1_Silent_p.V107V	NM_017816.2	NP_060286	Q9NX58	LYAR_HUMAN	Ly1 antibody reactive	107						nucleolus (GO:0005730)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			endometrium(2)|large_intestine(6)|liver(2)|lung(5)|ovary(1)|prostate(1)	17				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		TTTTCCTGGGAACGTTGTCAA	0.418																																						ENST00000343470.4																			0				endometrium(2)|large_intestine(6)|liver(2)|lung(5)|ovary(1)|prostate(1)	17						c.(319-321)gtT>gtA		Ly1 antibody reactive							62	67	65					4																	4281393		2203	4300	6503	SO:0001819	synonymous_variant	55646					nucleolus	metal ion binding|protein binding	g.chr4:4281393A>T	AL136750	CCDS3374.1	4p16.3	2013-01-10	2012-12-07		ENSG00000145220	ENSG00000145220		"Zinc fingers, C2HC-type containing"	26021	protein-coding gene	gene with protein product			"Ly1 antibody reactive homolog (mouse)"			11230166, 8491376	Standard	NM_001145725		Approved	ZC2HC2, ZLYAR	uc003ght.3	Q9NX58	OTTHUMG00000125477	ENST00000343470.4:c.321T>A	4.37:g.4281393A>T						LYAR_ENST00000452476.1_Silent_p.V107V	p.V107V	NM_017816.2	NP_060286.1	Q9NX58	LYAR_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.168)	5	561	-			107					D3DVS4|Q6FI78|Q9NYS1	Silent	SNP	ENST00000343470.4	37	c.321T>A	CCDS3374.1																																																																																				0.418	LYAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246800.2	NM_017816		11	45	0	0	0	0.435327	0	11	45					T	4281393	A	T	4281393	2	4	209	1	0	0	0	0	0	0	0	1	9103	233	9	5		5	LYAR	4	4281393	Silent	SNP	A	TCGA-HC-7233-01A-11D-2114-08		4281393	186872883	9	9631											
WFS1	7466	broad.mit.edu	37	chr4	6302431	6302431	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atggagatcaaggagtacctGattgacatggcctccagggc	11	8	13	9	0	1	3	1	2	0	1	2	5	2	4	3	4	1	1	3	4	2	2			TCGA-HC-7233-01A-11D-2114-08	TCGA-HC-7233-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c9a5dbc-f7f3-43e7-83d1-77b9fb4b8b54	112415c3-8cea-4608-9f55-c5714ac77390	g.chr4:6302431G>A	ENST00000226760.1	+	8	1079	c.909G>A	c.(907-909)ctG>ctA	p.L303L	WFS1_ENST00000503569.1_Silent_p.L303L	NM_001145853.1|NM_006005.3	NP_001139325.1|NP_005996.2	O76024	WFS1_HUMAN	Wolfram syndrome 1 (wolframin)	303					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|calcium ion homeostasis (GO:0055074)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER overload response (GO:0006983)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|glucose homeostasis (GO:0042593)|kidney development (GO:0001822)|negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902236)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of programmed cell death (GO:0043069)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of type B pancreatic cell apoptotic process (GO:2000675)|neurological system process (GO:0050877)|olfactory behavior (GO:0042048)|polyubiquitinated misfolded protein transport (GO:0070845)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of growth (GO:0045927)|positive regulation of protein metabolic process (GO:0051247)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of proteolysis (GO:0045862)|protein maturation by protein folding (GO:0022417)|protein stabilization (GO:0050821)|renal water homeostasis (GO:0003091)|response to endoplasmic reticulum stress (GO:0034976)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)	activating transcription factor binding (GO:0033613)|ATPase binding (GO:0051117)|transporter activity (GO:0005215)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	21				Colorectal(103;0.0512)		AGGAGTACCTGATTGACATGG	0.582																																						ENST00000226760.1																			0				central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	21						c.(907-909)ctG>ctA		Wolfram syndrome 1 (wolframin)							236	182	200					4																	6302431		2203	4300	6503	SO:0001819	synonymous_variant	7466				endoplasmic reticulum calcium ion homeostasis|endoplasmic reticulum unfolded protein response|ER overload response|ER-associated protein catabolic process|glucose homeostasis|kidney development|negative regulation of neuron apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|polyubiquitinated misfolded protein transport|positive regulation of calcium ion transport|positive regulation of growth|positive regulation of protein ubiquitination|positive regulation of proteolysis|protein stabilization|renal water homeostasis|sensory perception of sound|visual perception	dendrite|integral to endoplasmic reticulum membrane	activating transcription factor binding|ATPase binding|transporter activity|ubiquitin protein ligase binding	g.chr4:6302431G>A	AF084481	CCDS3386.1	4p16.1	2014-06-18			ENSG00000109501	ENSG00000109501			12762	protein-coding gene	gene with protein product		606201		DFNA6, DFNA14, DFNA38		7987399, 9771706	Standard	NM_006005		Approved	DIDMOAD, WFS	uc003gix.3	O76024	OTTHUMG00000090431	ENST00000226760.1:c.909G>A	4.37:g.6302431G>A						WFS1_ENST00000503569.1_Silent_p.L303L	p.L303L	NM_001145853.1|NM_006005.3	NP_001139325.1|NP_005996.2	O76024	WFS1_HUMAN		Colorectal(103;0.0512)	8	1079	+			303					B2R797|D3DVT1|Q8N6I3|Q9UNW6	Silent	SNP	ENST00000226760.1	37	c.909G>A	CCDS3386.1																																																																																				0.582	WFS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206863.1			23	48	0	0	0	0.729181	0	23	48					A	6302431	G	A	6302431	2	1	209	1	0	0	0	0	0	0	0	1	17357	1277	45	3		3	WFS1	4	6302431	Silent	SNP	G	TCGA-HC-7233-01A-11D-2114-08	2021038	6302431	184851845	10	9632											
ANK2	287	broad.mit.edu	37	chr4	114290838	114290838	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tctcccatcatacaagaaccCgaagagccctcagagcacag	14	5	7	15	1	3	3	2	0	1	3	4	4	3	3	3	0	4	1	3	0	4	1			TCGA-HC-7233-01A-11D-2114-08	TCGA-HC-7233-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c9a5dbc-f7f3-43e7-83d1-77b9fb4b8b54	112415c3-8cea-4608-9f55-c5714ac77390	g.chr4:114290838C>T	ENST00000357077.4	+	43	11540	c.11487C>T	c.(11485-11487)ccC>ccT	p.P3829P	ANK2_ENST00000510275.2_Silent_p.P396P|ANK2_ENST00000506722.1_Silent_p.P1735P|ANK2_ENST00000264366.6_Silent_p.P3796P|ANK2_ENST00000394537.3_Silent_p.P1744P|ANK2_ENST00000509550.1_Silent_p.P920P	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	3829					atrial cardiac muscle cell action potential (GO:0086014)|atrial cardiac muscle cell to AV node cell communication (GO:0086066)|atrial septum development (GO:0003283)|axon guidance (GO:0007411)|cardiac muscle contraction (GO:0060048)|cellular calcium ion homeostasis (GO:0006874)|cellular protein localization (GO:0034613)|membrane depolarization during SA node cell action potential (GO:0086046)|paranodal junction assembly (GO:0030913)|positive regulation of calcium ion transmembrane transporter activity (GO:1901021)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cation channel activity (GO:2001259)|positive regulation of gene expression (GO:0010628)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein localization to cell surface (GO:0034394)|protein localization to endoplasmic reticulum (GO:0070972)|protein localization to M-band (GO:0036309)|protein localization to organelle (GO:0033365)|protein localization to plasma membrane (GO:0072659)|protein localization to T-tubule (GO:0036371)|protein stabilization (GO:0050821)|protein targeting to plasma membrane (GO:0072661)|regulation of calcium ion transmembrane transporter activity (GO:1901019)|regulation of calcium ion transport (GO:0051924)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to methylmercury (GO:0051597)|SA node cell action potential (GO:0086015)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|T-tubule organization (GO:0033292)|ventricular cardiac muscle cell action potential (GO:0086005)	A band (GO:0031672)|basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intracellular (GO:0005622)|M band (GO:0031430)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|potassium channel regulator activity (GO:0015459)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		TACAAGAACCCGAAGAGCCCT	0.572																																						ENST00000357077.4																			0				NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248						c.(11485-11487)ccC>ccT		ankyrin 2, neuronal							67	64	65					4																	114290838		2203	4300	6503	SO:0001819	synonymous_variant	287				axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding	g.chr4:114290838C>T	M37123	CCDS3702.1, CCDS43261.1, CCDS54796.1	4q25-q26	2014-09-17	2003-03-12		ENSG00000145362	ENSG00000145362		"Ankyrin repeat domain containing"	493	protein-coding gene	gene with protein product		106410	"long (electrocardiographic) QT syndrome 4"	LQT4		7485162, 12571597	Standard	NM_001148		Approved		uc003ibe.4	Q01484	OTTHUMG00000132912	ENST00000357077.4:c.11487C>T	4.37:g.114290838C>T						ANK2_ENST00000264366.6_Silent_p.P3796P|ANK2_ENST00000506722.1_Silent_p.P1735P|ANK2_ENST00000509550.1_Silent_p.P920P|ANK2_ENST00000394537.3_Silent_p.P1744P|ANK2_ENST00000510275.2_Silent_p.P396P	p.P3829P	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)	43	11540	+		Ovarian(17;0.0448)|Hepatocellular(203;0.218)	3796					Q01485|Q08AC7|Q08AC8|Q7Z3L5	Silent	SNP	ENST00000357077.4	37	c.11487C>T	CCDS3702.1	.	.	.	.	.	.	.	.	.	.	C	4.537	0.099761	0.08681	.	.	ENSG00000145362	ENST00000514960	.	.	.	5.55	-9.42	0.00610	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.409	0.04420	0.3011:0.0893:0.1504:0.4592	.	.	.	.	X	746	.	.	R	+	1	2	ANK2	114510287	0.001000	0.12720	0.056000	0.19401	0.004000	0.04260	-2.408000	0.01042	-2.096000	0.00852	-1.889000	0.00537	CGA		0.572	ANK2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256422.2	NM_001148		4	36	0	0	0	0.184627	0	4	36					T	114290838	C	T	114290838	2	4	209	1	0	0	0	0	0	0	0	1	621	639	23	2		2	ANK2	4	114290838	Silent	SNP	C	TCGA-HC-7233-01A-11D-2114-08	107988407	114290838	76863438	11	9633											
NDST4	64579	broad.mit.edu	37	chr4	115997743	115997743	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tattccacacagtatttttcTaaaagctctcgattccatga	12	15	4	10	1	2	1	0	1	2	0	5	2	4	1	2	0	1	2	2	0	4	7			TCGA-HC-7233-01A-11D-2114-08	TCGA-HC-7233-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c9a5dbc-f7f3-43e7-83d1-77b9fb4b8b54	112415c3-8cea-4608-9f55-c5714ac77390	g.chr4:115997743T>G	ENST00000264363.2	-	2	1128	c.450A>C	c.(448-450)ttA>ttC	p.L150F		NM_022569.1	NP_072091.1	Q9H3R1	NDST4_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4	150	Heparan sulfate N-deacetylase 4.				heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparin biosynthetic process (GO:0030210)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine N-sulfotransferase activity (GO:0015016)|deacetylase activity (GO:0019213)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	81		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000562)		AGTATTTTTCTAAAAGCTCTC	0.343																																						ENST00000264363.2																			0				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	81						c.(448-450)ttA>ttC		N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4							58	63	61					4																	115997743		2203	4300	6503	SO:0001583	missense	64579					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity	g.chr4:115997743T>G	AB036429	CCDS3706.1	4q26	2008-02-05			ENSG00000138653	ENSG00000138653		"Sulfotransferases, membrane-bound"	20779	protein-coding gene	gene with protein product		615039				11087757	Standard	NM_022569		Approved		uc003ibu.3	Q9H3R1	OTTHUMG00000132916	ENST00000264363.2:c.450A>C	4.37:g.115997743T>G	ENSP00000264363:p.Leu150Phe						p.L150F	NM_022569.1	NP_072091.1	Q9H3R1	NDST4_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000562)	2	1128	-		Ovarian(17;0.156)	150			Heparan sulfate N-deacetylase 4.		Q2KHM8	Missense_Mutation	SNP	ENST00000264363.2	37	c.450A>C	CCDS3706.1	.	.	.	.	.	.	.	.	.	.	T	16.56	3.157746	0.57368	.	.	ENSG00000138653	ENST00000264363	T	0.57595	0.39	5.04	-4.13	0.03904	.	0.000000	0.85682	D	0.000000	T	0.64103	0.2568	M	0.87328	2.875	0.50813	D	0.999899	P	0.40000	0.698	P	0.48524	0.58	T	0.71520	-0.4568	10	0.59425	D	0.04	.	16.2473	0.82450	0.0:0.7226:0.0:0.2774	.	150	Q9H3R1	NDST4_HUMAN	F	150	ENSP00000264363:L150F	ENSP00000264363:L150F	L	-	3	2	NDST4	116217192	0.867000	0.29959	0.946000	0.38457	0.992000	0.81027	0.025000	0.13577	-0.948000	0.03668	-0.347000	0.07816	TTA		0.343	NDST4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256427.1	NM_022569		5	74	0	0	0	0.184627	0	5	74					G	115997743	T	G	115997743	3	3	209	1	0	0	0	0	1	0	0	0	10258	1519	53	5	2220	5	NDST4	4	115997743	Missense_Mutation	SNP	T	TCGA-HC-7233-01A-11D-2114-08	1706905	115997743	75156533	12	9634											
PCDH18	54510	broad.mit.edu	37	chr4	138449742	138449742	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cactgtctcctgcctcactgTcaccacggccactgtctttc	5	12	6	18	1	4	0	2	0	2	0	6	0	4	0	4	1	1	0	4	1	0	1			TCGA-HC-7233-01A-11D-2114-08	TCGA-HC-7233-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c9a5dbc-f7f3-43e7-83d1-77b9fb4b8b54	112415c3-8cea-4608-9f55-c5714ac77390	g.chr4:138449742T>A	ENST00000344876.4	-	3	3016	c.2630A>T	c.(2629-2631)gAc>gTc	p.D877V	PCDH18_ENST00000511115.1_Missense_Mutation_p.D57V|PCDH18_ENST00000510305.1_Missense_Mutation_p.D88V|PCDH18_ENST00000412923.2_Missense_Mutation_p.D876V|PCDH18_ENST00000507846.1_Missense_Mutation_p.D656V	NM_019035.3	NP_061908.1	Q9HCL0	PCD18_HUMAN	protocadherin 18	877					brain development (GO:0007420)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					TGCCTCACTGTCACCACGGCC	0.423																																						ENST00000344876.4																			0				NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86						c.(2629-2631)gAc>gTc		protocadherin 18							206	222	217					4																	138449742		2203	4300	6503	SO:0001583	missense	54510				brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:138449742T>A	AL137471	CCDS34064.1, CCDS75193.1	4q28.3	2010-01-26			ENSG00000189184	ENSG00000189184		"Cadherins / Protocadherins : Non-clustered"	14268	protein-coding gene	gene with protein product		608287				10835267, 11549318	Standard	XM_005263070		Approved	KIAA1562, PCDH68L	uc003ihe.4	Q9HCL0	OTTHUMG00000161348	ENST00000344876.4:c.2630A>T	4.37:g.138449742T>A	ENSP00000355082:p.Asp877Val					PCDH18_ENST00000511115.1_Missense_Mutation_p.D57V|PCDH18_ENST00000507846.1_Missense_Mutation_p.D656V|PCDH18_ENST00000412923.2_Missense_Mutation_p.D876V|PCDH18_ENST00000510305.1_Missense_Mutation_p.D88V	p.D877V	NM_019035.3	NP_061908.1	Q9HCL0	PCD18_HUMAN			3	3016	-	all_hematologic(180;0.24)		877					A8K7K3|B7ZKT1|Q52LS2	Missense_Mutation	SNP	ENST00000344876.4	37	c.2630A>T	CCDS34064.1	.	.	.	.	.	.	.	.	.	.	T	26.4	4.729456	0.89390	.	.	ENSG00000189184	ENST00000344876;ENST00000412923;ENST00000507846;ENST00000510305;ENST00000511115	T;T;T;T;T	0.64438	-0.02;-0.0;-0.1;0.77;0.76	5.56	5.56	0.83823	.	0.000000	0.45126	D	0.000394	T	0.76772	0.4034	M	0.68952	2.095	0.80722	D	1	D;D;D;D	0.69078	0.997;0.988;0.997;0.988	D;P;D;P	0.67900	0.911;0.676;0.954;0.676	T	0.79659	-0.1711	10	0.87932	D	0	.	15.7229	0.77728	0.0:0.0:0.0:1.0	.	57;656;876;877	B4DLR6;D6RIG4;Q9HCL0-2;Q9HCL0	.;.;.;PCD18_HUMAN	V	877;876;656;88;57	ENSP00000355082:D877V;ENSP00000390688:D876V;ENSP00000425903:D656V;ENSP00000424269:D88V;ENSP00000425647:D57V	ENSP00000355082:D877V	D	-	2	0	PCDH18	138669192	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.991000	0.88244	2.108000	0.64289	0.533000	0.62120	GAC		0.423	PCDH18-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364614.1	NM_019035		79	288	0	0	0	0.870114	0	79	288					A	138449742	T	A	138449742	3	1	209	1	0	0	0	0	1	0	0	0	11513	1667	58	5	785	5	PCDH18	4	138449742	Missense_Mutation	SNP	T	TCGA-HC-7233-01A-11D-2114-08	22451999	138449742	52704534	13	9635											
ERAP2	64167	broad.mit.edu	37	chr5	96245318	96245318	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtattttaagccagtgattgAcaggcaaagctggagtgaca	13	10	12	6	0	0	3	0	3	0	0	0	4	0	4	1	2	2	3	1	2	3	4			TCGA-HC-7233-01A-11D-2114-08	TCGA-HC-7233-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c9a5dbc-f7f3-43e7-83d1-77b9fb4b8b54	112415c3-8cea-4608-9f55-c5714ac77390	g.chr5:96245318A>T	ENST00000437043.3	+	15	2915	c.2204A>T	c.(2203-2205)gAc>gTc	p.D735V	ERAP2_ENST00000379904.4_Missense_Mutation_p.D690V|CTD-2260A17.2_ENST00000501338.1_Intron	NM_001130140.1|NM_022350.3	NP_001123612.1|NP_071745.1	Q6P179	ERAP2_HUMAN	endoplasmic reticulum aminopeptidase 2	735					antigen processing and presentation of endogenous peptide antigen via MHC class I (GO:0019885)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|regulation of blood pressure (GO:0008217)	endoplasmic reticulum lumen (GO:0005788)|integral component of membrane (GO:0016021)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24		all_cancers(142;0.000311)|all_epithelial(76;1.54e-06)|all_lung(232;0.0131)|Lung NSC(167;0.0161)|Colorectal(57;0.0596)|Ovarian(225;0.105)		COAD - Colon adenocarcinoma(37;0.0703)		CCAGTGATTGACAGGCAAAGC	0.488																																						ENST00000437043.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24						c.(2203-2205)gAc>gTc		endoplasmic reticulum aminopeptidase 2							118	112	114					5																	96245318		2203	4300	6503	SO:0001583	missense	64167				antigen processing and presentation of endogenous peptide antigen via MHC class I|proteolysis|regulation of blood pressure	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding	g.chr5:96245318A>T	AF191545	CCDS4086.1	5q15	2007-11-21			ENSG00000164308	ENSG00000164308			29499	protein-coding gene	gene with protein product	"leukocyte-derived arginine aminopeptidase"	609497				12799365, 15908954	Standard	NM_022350		Approved	L-RAP, LRAP	uc003kmt.3	Q6P179	OTTHUMG00000128718	ENST00000437043.3:c.2204A>T	5.37:g.96245318A>T	ENSP00000400376:p.Asp735Val					ERAP2_ENST00000379904.4_Missense_Mutation_p.D690V|CTD-2260A17.2_ENST00000501338.1_Intron	p.D735V	NM_001130140.1|NM_022350.3	NP_001123612.1|NP_071745.1	Q6P179	ERAP2_HUMAN		COAD - Colon adenocarcinoma(37;0.0703)	15	2915	+		all_cancers(142;0.000311)|all_epithelial(76;1.54e-06)|all_lung(232;0.0131)|Lung NSC(167;0.0161)|Colorectal(57;0.0596)|Ovarian(225;0.105)	735					Q7Z5K1|Q8TD32|Q8WVJ4|Q9HBX2	Missense_Mutation	SNP	ENST00000437043.3	37	c.2204A>T	CCDS4086.1	.	.	.	.	.	.	.	.	.	.	A	20.9	4.070201	0.76301	.	.	ENSG00000164308	ENST00000437043;ENST00000379904	T;T	0.05996	3.36;3.36	4.56	4.56	0.56223	.	0.074136	0.52532	D	0.000076	T	0.17365	0.0417	M	0.64170	1.965	0.80722	D	1	D;P	0.53745	0.962;0.799	P;P	0.57283	0.817;0.771	T	0.00316	-1.1823	10	0.56958	D	0.05	.	13.2962	0.60298	1.0:0.0:0.0:0.0	.	690;735	Q6P179-3;Q6P179	.;ERAP2_HUMAN	V	735;690	ENSP00000400376:D735V;ENSP00000369235:D690V	ENSP00000369235:D690V	D	+	2	0	ERAP2	96271074	1.000000	0.71417	0.967000	0.41034	0.988000	0.76386	7.490000	0.81461	2.046000	0.60703	0.460000	0.39030	GAC		0.488	ERAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250623.2	NM_022350		6	82	0	0	0	0.307466	0	6	82					T	96245318	A	T	96245318	3	4	209	1	0	0	0	0	1	0	0	0	5204	275	10	5	2258	5	ERAP2	5	96245318	Missense_Mutation	SNP	A	TCGA-HC-7233-01A-11D-2114-08		96245318	84669942	14	9636											
TRIM36	55521	broad.mit.edu	37	chr5	114466299	114466299	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aaaaacctaccttggactaaCtgcatcccggggagaacgga	14	6	10	11	2	0	1	0	0	0	1	1	4	1	3	3	4	5	1	3	4	5	3			TCGA-HC-7233-01A-11D-2114-08	TCGA-HC-7233-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c9a5dbc-f7f3-43e7-83d1-77b9fb4b8b54	112415c3-8cea-4608-9f55-c5714ac77390	g.chr5:114466299C>T	ENST00000282369.3	-	9	1943	c.1822G>A	c.(1822-1824)Gtt>Att	p.V608I	TRIM36_ENST00000513154.1_Missense_Mutation_p.V596I|TRIM36_ENST00000514154.1_Missense_Mutation_p.V453I	NM_018700.3	NP_061170.2	Q9NQ86	TRI36_HUMAN	tripartite motif containing 36	608	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				acrosome reaction (GO:0007340)|regulation of cell cycle (GO:0051726)	acrosomal vesicle (GO:0001669)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.A607fs*27(2)		breast(3)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	37		all_cancers(142;0.00133)|all_epithelial(76;2.41e-05)|Prostate(80;0.00955)|Ovarian(225;0.0443)|Breast(839;0.195)		OV - Ovarian serous cystadenocarcinoma(64;3.62e-08)|Epithelial(69;7.69e-08)|all cancers(49;9.33e-06)		CTTGGACTAACTGCATCCCGG	0.393																																						ENST00000513154.1																			2	Deletion - Frameshift(2)	p.A607fs*27(2)	breast(2)	breast(3)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	37						c.(1786-1788)Gtt>Att		tripartite motif containing 36							88	89	88					5																	114466299		2202	4300	6502	SO:0001583	missense	55521					acrosomal vesicle|cytoskeleton	ligase activity|zinc ion binding	g.chr5:114466299C>T	AJ272269	CCDS4115.1, CCDS34211.1, CCDS34212.1, CCDS75287.1	5q22	2013-02-11	2011-01-25		ENSG00000152503	ENSG00000152503		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers", "Fibronectin type III domain containing"	16280	protein-coding gene	gene with protein product	"zinc-binding protein Rbcc728", "tripartite motif protein 36", "RING finger protein 98"	609317	"tripartite motif-containing 36"			11331580	Standard	XM_005272031		Approved	RBCC728, RNF98, HAPRIN	uc003kqs.3	Q9NQ86	OTTHUMG00000128892	ENST00000282369.3:c.1822G>A	5.37:g.114466299C>T	ENSP00000282369:p.Val608Ile					TRIM36_ENST00000514154.1_Missense_Mutation_p.V453I|TRIM36_ENST00000282369.3_Missense_Mutation_p.V608I	p.V596I			Q9NQ86	TRI36_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;3.62e-08)|Epithelial(69;7.69e-08)|all cancers(49;9.33e-06)	9	2112	-		all_cancers(142;0.00133)|all_epithelial(76;2.41e-05)|Prostate(80;0.00955)|Ovarian(225;0.0443)|Breast(839;0.195)	608			B30.2/SPRY.		A1L3Z1|A6NDD0|B7Z3V4|B7ZAV7|E9PFI8|Q0P5Z9	Missense_Mutation	SNP	ENST00000282369.3	37	c.1786G>A	CCDS4115.1	.	.	.	.	.	.	.	.	.	.	C	9.149	1.015880	0.19355	.	.	ENSG00000152503	ENST00000282369;ENST00000513154;ENST00000514154	T;T;T	0.60171	0.21;0.21;0.21	5.55	2.43	0.29744	Concanavalin A-like lectin/glucanase (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.380665	0.32386	N	0.006176	T	0.28333	0.0700	N	0.08118	0	0.80722	D	1	B;B	0.06786	0.001;0.0	B;B	0.11329	0.006;0.004	T	0.07404	-1.0774	10	0.25751	T	0.34	.	2.1223	0.03729	0.2411:0.3989:0.0:0.36	.	596;608	E9PFI8;Q9NQ86	.;TRI36_HUMAN	I	608;596;453	ENSP00000282369:V608I;ENSP00000423934:V596I;ENSP00000424259:V453I	ENSP00000282369:V608I	V	-	1	0	TRIM36	114494198	0.998000	0.40836	0.993000	0.49108	0.966000	0.64601	4.570000	0.60872	1.332000	0.45431	-0.251000	0.11542	GTT		0.393	TRIM36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250854.2	NM_018700		22	81	0	0	0	0.706142	0	22	81					T	114466299	C	T	114466299	3	4	209	1	0	0	0	0	1	0	0	0	16507	565	20	3	372	3	TRIM36	5	114466299	Missense_Mutation	SNP	C	TCGA-HC-7233-01A-11D-2114-08	18220981	114466299	66448961	15	9637											
CSNK1G3	1456	broad.mit.edu	37	chr5	122926136	122926136	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	catatcttcgttatgtaagaAggctagatttttttgaaaaa	14	16	7	4	1	1	3	0	1	1	2	2	3	1	3	0	1	0	3	0	1	7	8			TCGA-HC-7233-01A-11D-2114-08	TCGA-HC-7233-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c9a5dbc-f7f3-43e7-83d1-77b9fb4b8b54	112415c3-8cea-4608-9f55-c5714ac77390	g.chr5:122926136A>G	ENST00000361991.2	+	8	904	c.874A>G	c.(874-876)Agg>Ggg	p.R292G	CSNK1G3_ENST00000360683.2_Missense_Mutation_p.R292G|CSNK1G3_ENST00000511130.2_Missense_Mutation_p.R180G|CSNK1G3_ENST00000512718.3_Missense_Mutation_p.R217G|CSNK1G3_ENST00000510842.2_Missense_Mutation_p.R293G|CSNK1G3_ENST00000395411.1_Missense_Mutation_p.R292G|CSNK1G3_ENST00000345990.4_Missense_Mutation_p.R292G|CSNK1G3_ENST00000395412.1_Missense_Mutation_p.R292G|CSNK1G3_ENST00000521364.1_Missense_Mutation_p.R292G			Q9Y6M4	KC1G3_HUMAN	casein kinase 1, gamma 3	292	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular protein modification process (GO:0006464)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(3)|prostate(1)|skin(1)	15		all_cancers(142;0.0156)|Prostate(80;0.0322)|Lung NSC(810;0.245)	KIRC - Kidney renal clear cell carcinoma(527;0.165)|Kidney(363;0.229)	OV - Ovarian serous cystadenocarcinoma(64;0.000121)|Epithelial(69;0.000227)|all cancers(49;0.00176)		TTATGTAAGAAGGCTAGATTT	0.259																																					Pancreas(187;2868 2964 4353 6297)	ENST00000395412.1																			0				autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(3)|prostate(1)|skin(1)	15						c.(874-876)Agg>Ggg		casein kinase 1, gamma 3							58	64	62					5																	122926136		2201	4284	6485	SO:0001583	missense	1456				Wnt receptor signaling pathway	cytoplasm	ATP binding|protein serine/threonine kinase activity	g.chr5:122926136A>G	AF049090	CCDS4135.1, CCDS34218.1, CCDS43355.1, CCDS59491.1, CCDS59492.1, CCDS59493.1	5q23	2013-01-17			ENSG00000151292	ENSG00000151292			2456	protein-coding gene	gene with protein product		604253				9925945	Standard	NM_004384		Approved		uc031skv.1	Q9Y6M4	OTTHUMG00000128923	ENST00000361991.2:c.874A>G	5.37:g.122926136A>G	ENSP00000354942:p.Arg292Gly					CSNK1G3_ENST00000395411.1_Missense_Mutation_p.R292G|CSNK1G3_ENST00000521364.1_Missense_Mutation_p.R292G|CSNK1G3_ENST00000345990.4_Missense_Mutation_p.R292G|CSNK1G3_ENST00000360683.2_Missense_Mutation_p.R292G|CSNK1G3_ENST00000361991.2_Missense_Mutation_p.R292G|CSNK1G3_ENST00000512718.3_Missense_Mutation_p.R217G|CSNK1G3_ENST00000510842.2_Missense_Mutation_p.R293G|CSNK1G3_ENST00000511130.2_Missense_Mutation_p.R180G	p.R292G	NM_001044723.1	NP_001038188.1	Q9Y6M4	KC1G3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.165)|Kidney(363;0.229)	OV - Ovarian serous cystadenocarcinoma(64;0.000121)|Epithelial(69;0.000227)|all cancers(49;0.00176)	9	1593	+		all_cancers(142;0.0156)|Prostate(80;0.0322)|Lung NSC(810;0.245)	292			Protein kinase.		A8K040|B4DSH2|B7Z9Q4|E7EVD0|Q86WZ7|Q9Y6M3	Missense_Mutation	SNP	ENST00000361991.2	37	c.874A>G	CCDS4135.1	.	.	.	.	.	.	.	.	.	.	A	18.26	3.584716	0.65992	.	.	ENSG00000151292	ENST00000395412;ENST00000395411;ENST00000345990;ENST00000511130;ENST00000512718;ENST00000521364;ENST00000510842;ENST00000361991;ENST00000360683	T;T;T;T;T;T;T;T;T	0.05925	3.37;3.37;3.37;3.37;3.37;3.37;3.37;3.37;3.37	4.98	4.98	0.66077	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	D	0.000002	T	0.08670	0.0215	N	0.11870	0.19	0.54753	D	0.999984	B;P;B;P;P;P	0.49253	0.018;0.921;0.018;0.556;0.921;0.556	B;P;B;P;P;P	0.56612	0.043;0.802;0.043;0.584;0.802;0.584	T	0.52426	-0.8577	10	0.19590	T	0.45	.	15.0453	0.71822	1.0:0.0:0.0:0.0	.	217;293;180;292;292;292	B4DSH2;A8K040;E7EVD0;Q9Y6M4-3;Q9Y6M4;Q9Y6M4-2	.;.;.;.;KC1G3_HUMAN;.	G	292;292;292;180;217;292;293;292;292	ENSP00000378807:R292G;ENSP00000378806:R292G;ENSP00000334735:R292G;ENSP00000421385:R180G;ENSP00000421998:R217G;ENSP00000429412:R292G;ENSP00000423838:R293G;ENSP00000354942:R292G;ENSP00000353904:R292G	ENSP00000334735:R292G	R	+	1	2	CSNK1G3	122954035	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.581000	0.36558	2.181000	0.69327	0.533000	0.62120	AGG		0.259	CSNK1G3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000250900.1	NM_004384		3	69	0	0	0	0.150653	0	3	69					G	122926136	A	G	122926136	3	3	209	1	0	0	0	0	1	0	0	0	3956	63	3	4	904	4	CSNK1G3	5	122926136	Missense_Mutation	SNP	A	TCGA-HC-7233-01A-11D-2114-08	8459837	122926136	57989124	16	9638											
PAIP2	51247	broad.mit.edu	37	chr5	138700332	138700332	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agaggaagaagagcatgaatGgtttattccagctcgagatc	14	9	12	6	1	0	5	0	1	0	4	3	7	1	6	1	2	2	3	1	2	4	3			TCGA-HC-7233-01A-11D-2114-08	TCGA-HC-7233-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c9a5dbc-f7f3-43e7-83d1-77b9fb4b8b54	112415c3-8cea-4608-9f55-c5714ac77390	g.chr5:138700332G>T	ENST00000394795.2	+	3	1209	c.218G>T	c.(217-219)tGg>tTg	p.W73L	PAIP2_ENST00000511381.1_3'UTR|CTB-43P18.1_ENST00000503553.3_RNA|PAIP2_ENST00000265192.4_Missense_Mutation_p.W73L|PAIP2_ENST00000511706.1_Intron|PAIP2_ENST00000510080.1_Missense_Mutation_p.W73L			Q9BPZ3	PAIP2_HUMAN	poly(A) binding protein interacting protein 2	73	PABPC1-interacting motif-1 (PAM1).				memory (GO:0007613)|negative regulation of translational initiation (GO:0045947)|regulation of long-term synaptic potentiation (GO:1900271)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)	mRNA binding (GO:0003729)|translation repressor activity (GO:0030371)			kidney(1)|large_intestine(2)|lung(2)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			GAGCATGAATGGTTTATTCCA	0.388																																						ENST00000394795.2																			0				kidney(1)|large_intestine(2)|lung(2)	5						c.(217-219)tGg>tTg		poly(A) binding protein interacting protein 2							112	100	104					5																	138700332		2203	4300	6503	SO:0001583	missense	51247				negative regulation of translational initiation	cytoplasm	protein binding|translation repressor activity	g.chr5:138700332G>T	AF151052	CCDS4211.1	5q32	2008-02-05			ENSG00000120727	ENSG00000120727			17970	protein-coding gene	gene with protein product		605604				11172725, 16804161	Standard	NM_016480		Approved	PAIP2A	uc003led.3	Q9BPZ3	OTTHUMG00000129227	ENST00000394795.2:c.218G>T	5.37:g.138700332G>T	ENSP00000378275:p.Trp73Leu					PAIP2_ENST00000510080.1_Missense_Mutation_p.W73L|PAIP2_ENST00000511706.1_Intron|PAIP2_ENST00000265192.4_Missense_Mutation_p.W73L	p.W73L			Q9BPZ3	PAIP2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)		3	1209	+			73			PABPC1-interacting motif-1 (PAM1).		B2RBI1|D3DQC6|Q49A06|Q9H0Y5|Q9P0Q8	Missense_Mutation	SNP	ENST00000394795.2	37	c.218G>T	CCDS4211.1	.	.	.	.	.	.	.	.	.	.	G	26.3	4.722402	0.89298	.	.	ENSG00000120727	ENST00000507755;ENST00000265192;ENST00000394795;ENST00000510080	.	.	.	5.79	4.91	0.64330	.	0.000000	0.85682	D	0.000000	T	0.73908	0.3647	M	0.65975	2.015	0.51767	D	0.999934	D	0.57571	0.98	P	0.59424	0.857	T	0.76421	-0.2965	9	0.56958	D	0.05	.	14.3689	0.66826	0.0714:0.0:0.9285:0.0	.	73	Q9BPZ3	PAIP2_HUMAN	L	73	.	ENSP00000265192:W73L	W	+	2	0	PAIP2	138728231	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.408000	0.90221	1.449000	0.47699	0.655000	0.94253	TGG		0.388	PAIP2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373002.1	NM_016480		3	56	1	0	0.115264	0.115264	0.119106	3	56					T	138700332	G	T	138700332	3	4	209	1	0	0	0	0	1	0	0	0	11397	1357	47	5	224	5	PAIP2	5	138700332	Missense_Mutation	SNP	G	TCGA-HC-7233-01A-11D-2114-08	15774196	138700332	42214928	17	9639											
PCDHB2	56133	broad.mit.edu	37	chr5	140475283	140475283	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agtgcaaaatcgggagaactGcttttaagacagaaactgga	16	8	11	6	1	0	3	0	0	0	3	1	5	0	4	0	2	4	2	0	2	5	2			TCGA-HC-7233-01A-11D-2114-08	TCGA-HC-7233-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c9a5dbc-f7f3-43e7-83d1-77b9fb4b8b54	112415c3-8cea-4608-9f55-c5714ac77390	g.chr5:140475283G>T	ENST00000194155.4	+	1	1057	c.909G>T	c.(907-909)ctG>ctT	p.L303L		NM_018936.2	NP_061759.1	Q9Y5E7	PCDB2_HUMAN	protocadherin beta 2	303	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CGGGAGAACTGCTTTTAAGAC	0.398																																						ENST00000194155.4																			0				NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	71						c.(907-909)ctG>ctT									85	88	87					5																	140475283		2203	4300	6503	SO:0001819	synonymous_variant	0				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	g.chr5:140475283G>T	AF152495	CCDS4244.1	5q31	2010-01-26			ENSG00000112852	ENSG00000112852		"Cadherins / Protocadherins : Clustered"	8687	other	protocadherin		606328				10380929	Standard	NM_018936		Approved	PCDH-BETA2	uc003lil.3	Q9Y5E7	OTTHUMG00000129606	ENST00000194155.4:c.909G>T	5.37:g.140475283G>T							p.L303L	NM_018936.2	NP_061759.1	Q9Y5E7	PCDB2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1057	+			303			Cadherin 3.		Q4KMU1	Silent	SNP	ENST00000194155.4	37	c.909G>T	CCDS4244.1																																																																																				0.398	PCDHB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251801.2	NM_018936		25	51	1	0	5.35356e-11	0.639603	6.38309e-11	25	51					T	140475283	G	T	140475283	2	4	209	1	0	0	0	0	0	0	0	1	11542	1306	46	5		5	PCDHB2	5	140475283	Silent	SNP	G	TCGA-HC-7233-01A-11D-2114-08	1774951	140475283	40439977	18	9640											
GALNT10	55568	broad.mit.edu	37	chr5	153795366	153795366	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttcaccttcacctggagagaGgacatccggcctggagaccc	9	7	11	14	1	2	2	2	0	0	2	3	6	3	4	5	4	0	0	5	4	0	2			TCGA-HC-7233-01A-11D-2114-08	TCGA-HC-7233-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c9a5dbc-f7f3-43e7-83d1-77b9fb4b8b54	112415c3-8cea-4608-9f55-c5714ac77390	g.chr5:153795366G>C	ENST00000297107.6	+	11	1664	c.1527G>C	c.(1525-1527)gaG>gaC	p.E509D	SAP30L-AS1_ENST00000519727.1_RNA|SAP30L-AS1_ENST00000524264.1_RNA|GALNT10_ENST00000377657.3_Missense_Mutation_p.E182D|GALNT10_ENST00000377661.2_Missense_Mutation_p.E447D	NM_198321.3	NP_938080.1	Q86SR1	GLT10_HUMAN	polypeptide N-acetylgalactosaminyltransferase 10	509	Ricin B-type lectin. {ECO:0000255|PROSITE-ProRule:PRU00174}.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(12)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	32	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)|all_hematologic(541;0.21)	Kidney(363;8.21e-05)|KIRC - Kidney renal clear cell carcinoma(527;0.000577)			CCTGGAGAGAGGACATCCGGC	0.488																																						ENST00000297107.6																			0				cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(12)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	32						c.(1525-1527)gaG>gaC		UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 10 (GalNAc-T10)							119	118	118					5																	153795366		2203	4300	6503	SO:0001583	missense	55568					Golgi membrane|integral to membrane	metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr5:153795366G>C	AK023782	CCDS4325.1	5q34	2014-03-13	2014-03-13		ENSG00000164574	ENSG00000164574	2.4.1.41	"Glycosyltransferase family 2 domain containing"	19873	protein-coding gene	gene with protein product	"polypeptide GalNAc transferase 10"	608043	"UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 10 (GalNAc-T10)"			12417297	Standard	NM_198321		Approved	GalNAc-T10	uc003lvh.3	Q86SR1	OTTHUMG00000130145	ENST00000297107.6:c.1527G>C	5.37:g.153795366G>C	ENSP00000297107:p.Glu509Asp					GALNT10_ENST00000377657.3_Missense_Mutation_p.E182D|SAP30L-AS1_ENST00000519727.1_RNA|GALNT10_ENST00000377661.2_Missense_Mutation_p.E447D|SAP30L-AS1_ENST00000524264.1_RNA	p.E509D	NM_198321.3	NP_938080.1	Q86SR1	GLT10_HUMAN	Kidney(363;8.21e-05)|KIRC - Kidney renal clear cell carcinoma(527;0.000577)		11	1664	+	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)|all_hematologic(541;0.21)	509			Ricin B-type lectin.		B3KXC9|Q6IN56|Q86VP8|Q8IXJ2|Q8TEJ2|Q96IV2|Q9H8E1|Q9Y4M4	Missense_Mutation	SNP	ENST00000297107.6	37	c.1527G>C	CCDS4325.1	.	.	.	.	.	.	.	.	.	.	G	19.58	3.854922	0.71719	.	.	ENSG00000164574	ENST00000297107;ENST00000377661;ENST00000377657	T;T;T	0.27256	1.68;1.68;1.68	5.6	1.29	0.21616	Ricin B-related lectin (1);Ricin B lectin (3);	0.362716	0.32488	N	0.006029	T	0.39759	0.1090	L	0.56769	1.78	0.41376	D	0.987526	D;B;P	0.71674	0.998;0.175;0.497	D;B;B	0.85130	0.997;0.224;0.256	T	0.09378	-1.0677	10	0.30854	T	0.27	.	8.3438	0.32261	0.5506:0.0:0.4494:0.0	.	447;180;509	Q86SR1-2;D6R8Y1;Q86SR1	.;.;GLT10_HUMAN	D	509;447;182	ENSP00000297107:E509D;ENSP00000366889:E447D;ENSP00000366885:E182D	ENSP00000297107:E509D	E	+	3	2	GALNT10	153775559	0.996000	0.38824	1.000000	0.80357	0.993000	0.82548	0.393000	0.20817	0.322000	0.23283	-0.140000	0.14226	GAG		0.488	GALNT10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252453.1	NM_198321		48	150	0	0	0	0.870114	0	48	150					C	153795366	G	C	153795366	3	2	209	1	0	0	0	0	1	0	0	0	6208	991	35	5	1569	5	GALNT10	5	153795366	Missense_Mutation	SNP	G	TCGA-HC-7233-01A-11D-2114-08	13320083	153795366	27119894	19	9641											
FOXQ1	94234	broad.mit.edu	37	chr6	1313422	1313422	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tttttccgcggcagctacacGggctggcgcaactccgtgcg	5	9	13	14	6	0	0	0	0	0	0	2	0	2	0	2	3	4	4	2	3	2	3			TCGA-HC-7233-01A-11D-2114-08	TCGA-HC-7233-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c9a5dbc-f7f3-43e7-83d1-77b9fb4b8b54	112415c3-8cea-4608-9f55-c5714ac77390	g.chr6:1313422G>A	ENST00000296839.2	+	1	748	c.483G>A	c.(481-483)acG>acA	p.T161T		NM_033260.3	NP_150285.3	Q9C009	FOXQ1_HUMAN	forkhead box Q1	161					hair follicle morphogenesis (GO:0031069)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			lung(1)|urinary_tract(1)	2	Ovarian(93;0.0733)	Breast(5;0.052)|all_lung(73;0.0713)|all_hematologic(90;0.0895)		OV - Ovarian serous cystadenocarcinoma(45;0.0954)|BRCA - Breast invasive adenocarcinoma(62;0.18)		GCAGCTACACGGGCTGGCGCA	0.652																																						ENST00000296839.2																			0				lung(1)|urinary_tract(1)	2						c.(481-483)acG>acA		forkhead box Q1							39	42	41					6																	1313422		2200	4291	6491	SO:0001819	synonymous_variant	94234				DNA fragmentation involved in apoptotic nuclear change|embryo development|hair follicle morphogenesis|pattern specification process|positive regulation of caspase activity|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity	transcription factor complex	caspase regulator activity|DNA bending activity|double-stranded DNA binding|estrogen receptor binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|ubiquitin conjugating enzyme binding	g.chr6:1313422G>A	AF153341	CCDS4471.1	6p25	2008-02-05			ENSG00000164379	ENSG00000164379		"Forkhead boxes"	20951	protein-coding gene	gene with protein product		612788				11747606, 12011061	Standard	NM_033260		Approved	HFH1	uc003mtl.4	Q9C009	OTTHUMG00000016160	ENST00000296839.2:c.483G>A	6.37:g.1313422G>A							p.T161T	NM_033260.3	NP_150285.3	Q9C009	FOXQ1_HUMAN		OV - Ovarian serous cystadenocarcinoma(45;0.0954)|BRCA - Breast invasive adenocarcinoma(62;0.18)	1	748	+	Ovarian(93;0.0733)	Breast(5;0.052)|all_lung(73;0.0713)|all_hematologic(90;0.0895)	161					Q9NS06	Silent	SNP	ENST00000296839.2	37	c.483G>A	CCDS4471.1																																																																																				0.652	FOXQ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043410.1	NM_033260		3	55	0	0	0	0.184627	0	3	55					A	1313422	G	A	1313422	2	1	209	1	0	0	0	0	0	0	0	1	6030	1103	39	2		2	FOXQ1	6	1313422	Silent	SNP	G	TCGA-HC-7233-01A-11D-2114-08		1313422	169801645	20	9642											
SYNGAP1	8831	broad.mit.edu	37	chr6	33411229	33411229	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccaccaccatcaccaccaccGaggtggagagccccctgggg	9	3	11	18	1	1	1	1	0	0	1	1	3	1	1	8	4	1	0	8	4	0	0	rs557096495		TCGA-HC-7233-01A-11D-2114-08	TCGA-HC-7233-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c9a5dbc-f7f3-43e7-83d1-77b9fb4b8b54	112415c3-8cea-4608-9f55-c5714ac77390	g.chr6:33411229G>A	ENST00000418600.2	+	15	3001	c.2900G>A	c.(2899-2901)cGa>cAa	p.R967Q	SYNGAP1_ENST00000496374.1_3'UTR|SYNGAP1_ENST00000293748.5_Missense_Mutation_p.R967Q|SYNGAP1_ENST00000428982.2_Missense_Mutation_p.R908Q	NM_006772.2	NP_006763.2	Q96PV0	SYGP1_HUMAN	synaptic Ras GTPase activating protein 1	967					dendrite development (GO:0016358)|negative regulation of axonogenesis (GO:0050771)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of Ras protein signal transduction (GO:0046580)|pattern specification process (GO:0007389)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|receptor clustering (GO:0043113)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of MAPK cascade (GO:0043408)|regulation of synapse structure and activity (GO:0050803)|regulation of synaptic plasticity (GO:0048167)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	Rab GTPase activator activity (GO:0005097)|Ras GTPase activator activity (GO:0005099)	p.R967Q(1)|p.R952Q(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(15)|ovary(7)|pancreas(1)|stomach(1)|urinary_tract(1)	43						caccaccaccGAGGTGGAGAG	0.662													G|||	1	0.000199681	0	0	5008	,	,		16211	0		0.001	False		,,,				2504	0					ENST00000418600.2																			2	Substitution - Missense(2)	p.R967Q(1)|p.R952Q(1)	lung(2)	breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(15)|ovary(7)|pancreas(1)|stomach(1)|urinary_tract(1)	43						c.(2899-2901)cGa>cAa		synaptic Ras GTPase activating protein 1							86	97	93					6																	33411229		2202	4300	6502	SO:0001583	missense	8831				negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity|SH3 domain binding	g.chr6:33411229G>A	AB067525	CCDS34434.2	6p21.3	2010-06-25	2010-06-25		ENSG00000197283	ENSG00000197283			11497	protein-coding gene	gene with protein product		603384	"synaptic Ras GTPase activating protein 1 homolog (rat)"			9581761, 18323856	Standard	NM_006772		Approved	SYNGAP, RASA5, KIAA1938	uc011dri.2	Q96PV0	OTTHUMG00000031096	ENST00000418600.2:c.2900G>A	6.37:g.33411229G>A	ENSP00000403636:p.Arg967Gln					SYNGAP1_ENST00000428982.2_Missense_Mutation_p.R908Q|SYNGAP1_ENST00000293748.5_Missense_Mutation_p.R967Q|SYNGAP1_ENST00000496374.1_3'UTR	p.R967Q	NM_006772.2	NP_006763.2	Q96PV0	SYGP1_HUMAN			15	3001	+			967					A2AB17|A2BEL6|A2BEL7|A8MQC4|Q8TCS2|Q9UGE2	Missense_Mutation	SNP	ENST00000418600.2	37	c.2900G>A	CCDS34434.2	.	.	.	.	.	.	.	.	.	.	G	10.74	1.436019	0.25813	.	.	ENSG00000197283	ENST00000293748;ENST00000418600;ENST00000449372;ENST00000428982	T;T;T	0.15952	2.38;2.47;2.46	4.37	4.37	0.52481	.	1.776860	0.03080	N	0.158376	T	0.06735	0.0172	N	0.08118	0	0.47905	D	0.999548	D;D;D	0.64830	0.994;0.977;0.992	P;P;P	0.49922	0.626;0.492;0.492	T	0.38329	-0.9666	10	0.11182	T	0.66	.	12.2845	0.54786	0.0:0.0:1.0:0.0	.	967;967;967	Q96PV0;Q96PV0-2;Q96PV0-4	SYGP1_HUMAN;.;.	Q	967;967;953;908	ENSP00000293748:R967Q;ENSP00000403636:R967Q;ENSP00000412475:R908Q	ENSP00000293748:R967Q	R	+	2	0	SYNGAP1	33519207	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.152000	0.58111	2.275000	0.75901	0.491000	0.48974	CGA		0.662	SYNGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076151.4	XM_166407		19	128	0	0	0	0.539581	0	19	128					A	33411229	G	A	33411229	3	1	209	1	0	0	0	0	1	0	0	0	15444	1058	37	2	2958	2	SYNGAP1	6	33411229	Missense_Mutation	SNP	G	TCGA-HC-7233-01A-11D-2114-08	32097807	33411229	137703838	21	9643											
HUS1	3364	broad.mit.edu	37	chr7	48018175	48018175	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacaccctccatttgaaattCgttgaagaagttctcctaag	12	12	7	10	1	1	3	0	2	1	1	4	4	2	3	3	0	0	2	3	0	4	5			TCGA-HC-7233-01A-11D-2114-08	TCGA-HC-7233-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c9a5dbc-f7f3-43e7-83d1-77b9fb4b8b54	112415c3-8cea-4608-9f55-c5714ac77390	g.chr7:48018175C>A	ENST00000258774.5	-	3	219	c.196G>T	c.(196-198)Gaa>Taa	p.E66*	HUS1_ENST00000432325.1_Nonsense_Mutation_p.E45*	NM_004507.3	NP_004498.1	O60921	HUS1_HUMAN	HUS1 checkpoint homolog (S. pombe)	66					cellular response to DNA damage stimulus (GO:0006974)|cellular response to ionizing radiation (GO:0071479)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|double-strand break repair via homologous recombination (GO:0000724)|embryo development (GO:0009790)|mitotic cell cycle checkpoint (GO:0007093)|negative regulation of DNA replication (GO:0008156)|protein phosphorylation (GO:0006468)|regulation of protein phosphorylation (GO:0001932)|response to UV (GO:0009411)	checkpoint clamp complex (GO:0030896)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|liver(1)|lung(3)|ovary(2)|prostate(1)	13		Breast(660;0.00139)				ATTTGAAATTCGTTGAAGAAG	0.438								Direct reversal of damage;Other conserved DNA damage response genes																													Ovarian(103;466 1517 21788 34610 43890)	ENST00000258774.5																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|liver(1)|lung(3)|ovary(2)|prostate(1)	13						c.(196-198)Gaa>Taa	Direct reversal of damage;Other conserved DNA damage response genes	HUS1 checkpoint homolog (S. pombe)							63	63	63					7																	48018175		2203	4300	6503	SO:0001587	stop_gained	3364				DNA damage checkpoint|DNA replication	Golgi apparatus|nucleolus|nucleoplasm	protein binding	g.chr7:48018175C>A	Y16893	CCDS34635.1	7p13-p12	2008-08-08	2001-11-28		ENSG00000136273	ENSG00000136273			5309	protein-coding gene	gene with protein product	"hus1+-like protein"	603760	"HUS1 (S. pombe) checkpoint homolog"			9878245, 9524127	Standard	NM_004507		Approved		uc003tod.2	O60921	OTTHUMG00000155645	ENST00000258774.5:c.196G>T	7.37:g.48018175C>A	ENSP00000258774:p.Glu66*					HUS1_ENST00000432325.1_Nonsense_Mutation_p.E45*	p.E66*	NM_004507.3	NP_004498.1	O60921	HUS1_HUMAN			3	219	-		Breast(660;0.00139)	66					B4DFI9	Nonsense_Mutation	SNP	ENST00000258774.5	37	c.196G>T	CCDS34635.1	.	.	.	.	.	.	.	.	.	.	C	37	6.036592	0.97226	.	.	ENSG00000136273	ENST00000258774;ENST00000432325;ENST00000432627;ENST00000446009	.	.	.	5.47	4.59	0.56863	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.34782	T	0.22	-9.6824	11.8896	0.52622	0.0:0.9157:0.0:0.0843	.	.	.	.	X	66;45;45;45	.	ENSP00000258774:E66X	E	-	1	0	HUS1	47984700	1.000000	0.71417	0.122000	0.21767	0.940000	0.58332	5.743000	0.68655	1.312000	0.45043	0.655000	0.94253	GAA		0.438	HUS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340952.1	NM_004507		19	35	1	0	5.26018e-13	0.608945	6.39473e-13	19	35					A	48018175	C	A	48018175	4	1	209	1	0	0	0	0	0	1	0	0	7459	893	31	5	670	5	HUS1	7	48018175	Nonsense_Mutation	SNP	C	TCGA-HC-7233-01A-11D-2114-08		48018175	111120488	22	9644											
ABP1	26	broad.mit.edu	37	chr7	150554545	150554545	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agctttgccttccggctgcgCtcctcctccgggctgcaggt	2	11	12	16	3	0	0	0	0	0	0	4	0	4	0	5	3	4	5	5	3	0	2	rs546583289		TCGA-HC-7233-01A-11D-2114-08	TCGA-HC-7233-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c9a5dbc-f7f3-43e7-83d1-77b9fb4b8b54	112415c3-8cea-4608-9f55-c5714ac77390	g.chr7:150554545C>T	ENST00000493429.1	+	4	1571	c.987C>T	c.(985-987)cgC>cgT	p.R329R	AOC1_ENST00000360937.4_Silent_p.R329R|AOC1_ENST00000467291.1_Silent_p.R329R|AOC1_ENST00000416793.2_Silent_p.R329R			P19801	AOC1_HUMAN	amine oxidase, copper containing 1	329					amine metabolic process (GO:0009308)|cellular response to azide (GO:0097185)|cellular response to copper ion (GO:0071280)|cellular response to copper ion starvation (GO:0035874)|cellular response to heparin (GO:0071504)|cellular response to histamine (GO:0071420)|oxidation-reduction process (GO:0055114)|response to antibiotic (GO:0046677)|response to drug (GO:0042493)|sodium ion transmembrane transport (GO:0035725)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|peroxisome (GO:0005777)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	calcium ion binding (GO:0005509)|cation channel activity (GO:0005261)|copper ion binding (GO:0005507)|diamine oxidase activity (GO:0052597)|drug binding (GO:0008144)|heparin binding (GO:0008201)|histamine oxidase activity (GO:0052598)|methylputrescine oxidase activity (GO:0052599)|primary amine oxidase activity (GO:0008131)|propane-1,3-diamine oxidase activity (GO:0052600)|protein complex binding (GO:0032403)|protein homodimerization activity (GO:0042803)|quinone binding (GO:0048038)|receptor activity (GO:0004872)|sodium channel activity (GO:0005272)|zinc ion binding (GO:0008270)									Amiloride(DB00594)	TCCGGCTGCGCTCCTCCTCCG	0.662													C|||	1	0.000199681	0	0	5008	,	,		14050	0.001		0	False		,,,				2504	0					ENST00000493429.1																			0											c.(985-987)cgC>cgT		amine oxidase, copper containing 1							25	27	26					7																	150554545		2202	4296	6498	SO:0001819	synonymous_variant	26							g.chr7:150554545C>T	AK092514	CCDS43679.1, CCDS64797.1	7q36.1	2013-06-19	2013-06-19	2013-06-19	ENSG00000002726	ENSG00000002726	1.4.3.22		80	protein-coding gene	gene with protein product	"diamine oxidase"	104610	"amiloride binding protein 1 (amine oxidase (copper-containing))"	ABP1		8182053	Standard	NM_001091		Approved	DAO	uc003wia.2	P19801	OTTHUMG00000158306	ENST00000493429.1:c.987C>T	7.37:g.150554545C>T						AOC1_ENST00000416793.2_Silent_p.R329R|AOC1_ENST00000467291.1_Silent_p.R329R|AOC1_ENST00000360937.4_Silent_p.R329R	p.R329R							4	1571	+								C9J690|Q16683|Q16684|Q56II4|Q6GU42	Silent	SNP	ENST00000493429.1	37	c.987C>T	CCDS43679.1																																																																																				0.662	AOC1-009	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350628.1	NM_001091		16	36	0	0	0	0.520397	0	16	36					T	150554545	C	T	150554545	2	4	209	1	0	0	0	0	0	0	0	1	98	784	28	3		3	ABP1	7	150554545	Silent	SNP	C	TCGA-HC-7233-01A-11D-2114-08	102536370	150554545	8584118	23	9645											
MLL3	58508	broad.mit.edu	37	chr7	152012422	152012424	+	Splice_Site	DEL	CAC	CAC	-																															acaaaaagcgcagagctgttCactagtaaaaatgaaatgta																										TCGA-HC-7233-01A-11D-2114-08	TCGA-HC-7233-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c9a5dbc-f7f3-43e7-83d1-77b9fb4b8b54	112415c3-8cea-4608-9f55-c5714ac77390	g.chr7:152012422_152012424delCAC	ENST00000262189.6	-	4	608_609	c.390_391delGTG	c.(388-393)aggtga>agga	p.*131del	KMT2C_ENST00000355193.2_Splice_Site_p.*131del	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	131					histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										CAGAGCTGTTCACTAGTAAAAAT	0.35																																						ENST00000355193.2																			0											c.e4-1		lysine (K)-specific methyltransferase 2C																																				SO:0001630	splice_region_variant	58508							g.chr7:152012422_152012424delCAC	AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	13726	protein-coding gene	gene with protein product		606833	"myeloid/lymphoid or mixed-lineage leukemia 3"	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.390-1GTG>-	7.37:g.152012422_152012424delCAC						KMT2C_ENST00000262189.6_Splice_Site_p.R130_splice	p.R130_splice							4	608_609	-								Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Splice_Site	DEL	ENST00000262189.6	37	c.389_splice	CCDS5931.1																																																																																				0.35	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3		In_Frame_Del	8	45						8	45	---	---	---	---	-	152012424	CAC	-	152012422	8	5	209	1	0	1	0	1	0	0	1	0	9622	840	29	0	14568	0	MLL3	7	152012422	Splice_Site	DEL	CAC	TCGA-HC-7233-01A-11D-2114-08	1457877	152012422	7126241	24	9646											
CSMD3	114788	broad.mit.edu	37	chr8	113317094	113317094	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgggagccattcacaattcGccatcttccatgttccaaga	11	11	7	12	1	2	1	1	0	1	1	5	2	4	2	4	1	1	1	4	1	2	4			TCGA-HC-7233-01A-11D-2114-08	TCGA-HC-7233-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c9a5dbc-f7f3-43e7-83d1-77b9fb4b8b54	112415c3-8cea-4608-9f55-c5714ac77390	g.chr8:113317094G>A	ENST00000297405.5	-	52	8366	c.8122C>T	c.(8122-8124)Cga>Tga	p.R2708*	CSMD3_ENST00000455883.2_Intron|CSMD3_ENST00000352409.3_Nonsense_Mutation_p.R2638*|CSMD3_ENST00000343508.3_Nonsense_Mutation_p.R2668*	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2708	Sushi 16. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TTCACAATTCGCCATCTTCCA	0.398										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												ENST00000297405.5																			0				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						c.(8122-8124)Cga>Tga		CUB and Sushi multiple domains 3							88	75	80					8																	113317094		2203	4300	6503	SO:0001587	stop_gained	114788					integral to membrane|plasma membrane		g.chr8:113317094G>A	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.8122C>T	8.37:g.113317094G>A	ENSP00000297405:p.Arg2708*	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_ENST00000343508.3_Nonsense_Mutation_p.R2668*|CSMD3_ENST00000455883.2_Intron|CSMD3_ENST00000352409.3_Nonsense_Mutation_p.R2638*	p.R2708*	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN			52	8366	-			2708			Sushi 16.		Q96PZ3	Nonsense_Mutation	SNP	ENST00000297405.5	37	c.8122C>T	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	G	49	15.614899	0.99839	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000352409	.	.	.	5.18	-0.995	0.10222	.	0.083430	0.44902	D	0.000413	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.08179	T	0.78	.	17.7529	0.88440	0.0:0.0:0.2774:0.7226	.	.	.	.	X	2668;2708;1978;2638	.	ENSP00000297405:R2708X	R	-	1	2	CSMD3	113386270	0.989000	0.36119	0.998000	0.56505	0.999000	0.98932	0.137000	0.15995	-0.089000	0.12484	0.655000	0.94253	CGA		0.398	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		8	44	0	0	0	0.38729	0	8	44					A	113317094	G	A	113317094	4	1	209	1	0	0	0	0	0	1	0	0	3946	1095	38	1	3081	1	CSMD3	8	113317094	Nonsense_Mutation	SNP	G	TCGA-HC-7233-01A-11D-2114-08		113317094	33046928	25	9647											
OC90	729330	broad.mit.edu	37	chr8	133053851	133053851	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttcaaagtctcgggggcagaGaccagccacacacttcatac	12	7	9	13	1	3	1	2	0	1	1	4	2	3	1	2	2	2	1	2	2	2	3			TCGA-HC-7233-01A-11D-2114-08	TCGA-HC-7233-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c9a5dbc-f7f3-43e7-83d1-77b9fb4b8b54	112415c3-8cea-4608-9f55-c5714ac77390	g.chr8:133053851G>C	ENST00000443356.2	-	5	351	c.265C>G	c.(265-267)Ctc>Gtc	p.L89V	OC90_ENST00000262283.5_Missense_Mutation_p.L285V|OC90_ENST00000603859.1_Missense_Mutation_p.L89V|OC90_ENST00000254627.3_Missense_Mutation_p.L89V			Q02509	OC90_HUMAN	otoconin 90	89	Phospholipase A2-like 1.				lipid catabolic process (GO:0016042)|phospholipid metabolic process (GO:0006644)	extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|phospholipase A2 activity (GO:0004623)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(23)|ovary(2)|prostate(1)|skin(1)	37	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000805)			CGGGGGCAGAGACCAGCCACA	0.527																																						ENST00000262283.5																			0				NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(23)|ovary(2)|prostate(1)|skin(1)	37						c.(853-855)Ctc>Gtc		otoconin 90							43	45	45					8																	133053851		2021	4181	6202	SO:0001583	missense	729330				lipid catabolic process|phospholipid metabolic process		calcium ion binding|phospholipase A2 activity	g.chr8:133053851G>C	Z14310	CCDS47919.1	8q24.22	2011-03-01			ENSG00000253117	ENSG00000253117			8100	protein-coding gene	gene with protein product		601658		PLA2L		10329003, 9860971	Standard	NM_001080399		Approved		uc011lix.1	Q02509	OTTHUMG00000164672	ENST00000443356.2:c.265C>G	8.37:g.133053851G>C	ENSP00000390050:p.Leu89Val					OC90_ENST00000254627.3_Missense_Mutation_p.L89V|OC90_ENST00000443356.2_Missense_Mutation_p.L89V|OC90_ENST00000603859.1_Missense_Mutation_p.L89V	p.L285V			Q02509	OC90_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000805)		8	952	-	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		89					B4DNG8	Missense_Mutation	SNP	ENST00000443356.2	37	c.853C>G		.	.	.	.	.	.	.	.	.	.	G	16.87	3.242352	0.58995	.	.	ENSG00000253117;ENSG00000253117;ENSG00000258417	ENST00000254627;ENST00000443356;ENST00000262283	T;T;T	0.26518	1.73;1.73;1.73	5.88	5.0	0.66597	Phospholipase A2 (3);	0.206931	0.42053	D	0.000776	T	0.36082	0.0954	L	0.52011	1.625	0.26106	N	0.980754	D;D	0.55385	0.964;0.971	P;P	0.60286	0.742;0.872	T	0.17228	-1.0376	10	0.37606	T	0.19	-18.6967	7.1554	0.25635	0.0882:0.0:0.7396:0.1722	.	89;89	Q02509-2;Q02509	.;OC90_HUMAN	V	89;89;285	ENSP00000254627:L89V;ENSP00000390050:L89V;ENSP00000262283:L285V	ENSP00000254627:L89V	L	-	1	0	RP11-240B13.2;OC90	133123033	0.909000	0.30893	0.914000	0.36105	0.994000	0.84299	1.113000	0.31184	1.469000	0.48083	-0.293000	0.09583	CTC		0.527	OC90-201	KNOWN	basic	protein_coding	protein_coding		NM_001080399		19	45	0	0	0	0.639603	0	19	45					C	133053851	G	C	133053851	3	2	209	1	0	0	0	0	1	0	0	0	10814	942	33	5	1208	5	OC90	8	133053851	Missense_Mutation	SNP	G	TCGA-HC-7233-01A-11D-2114-08	19736757	133053851	13310171	26	9648											
GSN	2934	broad.mit.edu	37	chr9	124064268	124064268	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcatggtggtggaacaccccGagttcctcaaggcagggaag	10	6	15	10	1	1	0	1	0	0	0	2	3	2	2	3	5	1	3	3	5	3	1	rs143781307		TCGA-HC-7233-01A-11D-2114-08	TCGA-HC-7233-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c9a5dbc-f7f3-43e7-83d1-77b9fb4b8b54	112415c3-8cea-4608-9f55-c5714ac77390	g.chr9:124064268G>T	ENST00000373818.4	+	2	241	c.172G>T	c.(172-174)Gag>Tag	p.E58*	GSN_ENST00000373823.3_Nonsense_Mutation_p.E7*|GSN_ENST00000394353.2_Nonsense_Mutation_p.E18*|GSN_ENST00000449733.1_Nonsense_Mutation_p.E7*|GSN_ENST00000341272.2_Nonsense_Mutation_p.E7*|GSN_ENST00000412819.1_Nonsense_Mutation_p.E7*|GSN_ENST00000436847.1_Nonsense_Mutation_p.E18*|GSN_ENST00000373808.2_Nonsense_Mutation_p.E7*|GSN_ENST00000545652.1_Nonsense_Mutation_p.E15*	NM_000177.4|NM_001258029.1	NP_000168.1|NP_001244958.1	P06396	GELS_HUMAN	gelsolin	58	Actin-severing. {ECO:0000255}.				actin filament polymerization (GO:0030041)|actin filament severing (GO:0051014)|aging (GO:0007568)|apoptotic process (GO:0006915)|barbed-end actin filament capping (GO:0051016)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to cadmium ion (GO:0071276)|cilium morphogenesis (GO:0060271)|oligodendrocyte development (GO:0014003)|phosphatidylinositol-mediated signaling (GO:0048015)|regulation of cell adhesion (GO:0030155)|response to ethanol (GO:0045471)|response to folic acid (GO:0051593)|tissue regeneration (GO:0042246)|vesicle-mediated transport (GO:0016192)	actin cytoskeleton (GO:0015629)|blood microparticle (GO:0072562)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|perinuclear region of cytoplasm (GO:0048471)|protein complex (GO:0043234)|ruffle (GO:0001726)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)	21						GGAACACCCCGAGTTCCTCAA	0.622																																						ENST00000373823.3																			0				NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)	21						c.(19-21)Gag>Tag		gelsolin							111	104	106					9																	124064268		2203	4300	6503	SO:0001587	stop_gained	2934				actin filament polymerization|actin filament severing|barbed-end actin filament capping|cellular component disassembly involved in apoptosis|cilium morphogenesis	actin cytoskeleton|cytosol	actin binding|calcium ion binding|protein binding	g.chr9:124064268G>T	X04412	CCDS6828.1, CCDS6829.1, CCDS48011.1, CCDS65118.1, CCDS75890.1, CCDS75891.1	9q33	2010-04-27	2010-04-27		ENSG00000148180	ENSG00000148180			4620	protein-coding gene	gene with protein product	"amyloidosis, Finnish type"	137350	"gelsolin (amyloidosis, Finnish type)"			1652889	Standard	NM_001127662		Approved	DKFZp313L0718	uc004blf.1	P06396	OTTHUMG00000020584	ENST00000373818.4:c.172G>T	9.37:g.124064268G>T	ENSP00000362924:p.Glu58*					GSN_ENST00000449733.1_Nonsense_Mutation_p.E7*|GSN_ENST00000373808.2_Nonsense_Mutation_p.E7*|GSN_ENST00000436847.1_Nonsense_Mutation_p.E18*|GSN_ENST00000545652.1_Nonsense_Mutation_p.E15*|GSN_ENST00000341272.2_Nonsense_Mutation_p.E7*|GSN_ENST00000394353.2_Nonsense_Mutation_p.E18*|GSN_ENST00000412819.1_Nonsense_Mutation_p.E7*|GSN_ENST00000373818.4_Nonsense_Mutation_p.E58*	p.E7*			P06396	GELS_HUMAN			10	924	+			58					A2A418|A8MUD1|A8MYN7|B7Z373|B7Z5V1|F5H1A8|Q5T0I2|Q8WVV7	Nonsense_Mutation	SNP	ENST00000373818.4	37	c.19G>T	CCDS6828.1	.	.	.	.	.	.	.	.	.	.	G	37	5.991296	0.97179	.	.	ENSG00000148180	ENST00000373823;ENST00000432226;ENST00000449773;ENST00000436847;ENST00000394353;ENST00000449733;ENST00000412819;ENST00000341272;ENST00000373808;ENST00000394352;ENST00000456109;ENST00000545652;ENST00000373818	.	.	.	5.24	5.24	0.73138	.	0.140589	0.64402	D	0.000005	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.25106	T	0.35	-32.583	17.8184	0.88642	0.0:0.0:1.0:0.0	.	.	.	.	X	7;7;18;18;18;7;7;7;7;7;7;15;58	.	ENSP00000340888:E7X	E	+	1	0	GSN	123104089	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.897000	0.87356	2.424000	0.82194	0.557000	0.71058	GAG		0.622	GSN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000053861.1	NM_000177		3	94	1	0	0.115264	0.115264	0.119106	3	94					T	124064268	G	T	124064268	4	4	209	1	0	0	0	0	0	1	0	0	6825	1059	37	5	206	5	GSN	9	124064268	Nonsense_Mutation	SNP	G	TCGA-HC-7233-01A-11D-2114-08		124064268	17149163	27	9649											
SETX	23064	broad.mit.edu	37	chr9	135203782	135203782	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcaaactgaaaaagagtcTctgtcttttcttcctttact	10	16	4	11	0	4	2	1	1	3	1	6	2	5	2	2	0	2	0	2	0	4	5			TCGA-HC-7233-01A-11D-2114-08	TCGA-HC-7233-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c9a5dbc-f7f3-43e7-83d1-77b9fb4b8b54	112415c3-8cea-4608-9f55-c5714ac77390	g.chr9:135203782T>C	ENST00000224140.5	-	10	3385	c.3203A>G	c.(3202-3204)gAg>gGg	p.E1068G	SETX_ENST00000372169.2_Missense_Mutation_p.E1068G|SETX_ENST00000393220.1_Missense_Mutation_p.E1068G	NM_015046.5	NP_055861.3	Q7Z333	SETX_HUMAN	senataxin	1068					cell death (GO:0008219)|circadian rhythm (GO:0007623)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|RNA processing (GO:0006396)|termination of RNA polymerase II transcription (GO:0006369)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	97		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)		AAAAAGAGTCTCTGTCTTTTC	0.373																																						ENST00000372169.2																			0				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	97						c.(3202-3204)gAg>gGg		senataxin							122	124	123					9																	135203782		2202	4300	6502	SO:0001583	missense	23064				cell death|double-strand break repair|RNA processing	cytoplasm|nucleolus|nucleoplasm	ATP binding|DNA helicase activity	g.chr9:135203782T>C	AB014525	CCDS6947.1	9q34	2014-09-17	2005-11-29	2005-11-29	ENSG00000107290	ENSG00000107290			445	protein-coding gene	gene with protein product		608465	"amyotrophic lateral sclerosis 4", "spinocerebellar ataxia, recessive, non-Friedreich type 1"	ALS4, SCAR1		9497266, 11022012	Standard	NM_015046		Approved	KIAA0625, AOA2	uc004cbk.3	Q7Z333	OTTHUMG00000020834	ENST00000224140.5:c.3203A>G	9.37:g.135203782T>C	ENSP00000224140:p.Glu1068Gly					SETX_ENST00000224140.5_Missense_Mutation_p.E1068G|SETX_ENST00000393220.1_Missense_Mutation_p.E1068G	p.E1068G			Q7Z333	SETX_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)	10	3385	-		Myeloproliferative disorder(178;0.204)	1068					A2A396|B2RPB2|B5ME16|C9JQ10|O75120|Q3KQX4|Q5JUJ1|Q68DW5|Q6AZD7|Q7Z3J6|Q8WX33|Q9H9D1|Q9NVP9	Missense_Mutation	SNP	ENST00000224140.5	37	c.3203A>G	CCDS6947.1	.	.	.	.	.	.	.	.	.	.	T	1.255	-0.617413	0.03663	.	.	ENSG00000107290	ENST00000224140;ENST00000372169;ENST00000393220	D;D;D	0.87103	-2.11;-2.21;-1.82	5.06	-10.1	0.00402	.	35.900700	0.00166	N	0.000000	T	0.65460	0.2693	N	0.03608	-0.345	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.61946	-0.6958	10	0.22109	T	0.4	.	4.5769	0.12238	0.1682:0.2329:0.4534:0.1456	.	1068;1068;1068	Q7Z333-3;Q7Z333;Q7Z333-4	.;SETX_HUMAN;.	G	1068	ENSP00000224140:E1068G;ENSP00000361242:E1068G;ENSP00000376913:E1068G	ENSP00000224140:E1068G	E	-	2	0	SETX	134193603	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-3.302000	0.00520	-3.046000	0.00261	0.533000	0.62120	GAG		0.373	SETX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054774.3	NM_015046		3	115	0	0	0	0.115264	0	3	115					C	135203782	T	C	135203782	3	2	209	1	0	0	0	0	1	0	0	0	14141	1551	54	4	4898	4	SETX	9	135203782	Missense_Mutation	SNP	T	TCGA-HC-7233-01A-11D-2114-08	11139514	135203782	6009649	28	9650											
KCNT1	57582	broad.mit.edu	37	chr9	138656961	138656961	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgcgcagacggagaagcacGtggtcctgtgtgtcagctcc	7	8	15	11	3	1	2	1	0	0	2	3	3	3	2	2	2	3	3	2	2	1	0			TCGA-HC-7233-01A-11D-2114-08	TCGA-HC-7233-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c9a5dbc-f7f3-43e7-83d1-77b9fb4b8b54	112415c3-8cea-4608-9f55-c5714ac77390	g.chr9:138656961G>A	ENST00000263604.3	+	12	1063	c.1063G>A	c.(1063-1065)Gtg>Atg	p.V355M	KCNT1_ENST00000487664.1_Missense_Mutation_p.V329M|KCNT1_ENST00000298480.5_Missense_Mutation_p.V374M|KCNT1_ENST00000486577.2_Missense_Mutation_p.V335M|KCNT1_ENST00000490355.2_Missense_Mutation_p.V355M|KCNT1_ENST00000491806.2_Missense_Mutation_p.V341M|KCNT1_ENST00000371757.2_Missense_Mutation_p.V374M|KCNT1_ENST00000488444.2_Missense_Mutation_p.V355M			Q5JUK3	KCNT1_HUMAN	potassium channel, subfamily T, member 1	355					potassium ion transmembrane transport (GO:0071805)	voltage-gated potassium channel complex (GO:0008076)	calcium-activated potassium channel activity (GO:0015269)|voltage-gated potassium channel activity (GO:0005249)			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05)		GGAGAAGCACGTGGTCCTGTG	0.612																																						ENST00000298480.5																			0				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						c.(1120-1122)Gtg>Atg		potassium channel, subfamily T, member 1							197	173	181					9																	138656961		2203	4300	6503	SO:0001583	missense	57582					membrane	binding|calcium-activated potassium channel activity	g.chr9:138656961G>A	AB037843	CCDS35175.1, CCDS35175.2, CCDS65188.1	9q34.3	2012-07-05			ENSG00000107147	ENSG00000107147		"Potassium channels", "Voltage-gated ion channels / Potassium channels, calcium-activated"	18865	protein-coding gene	gene with protein product		608167				10718198, 16382103	Standard	NM_020822		Approved	KCa4.1, KIAA1422	uc011mdq.2	Q5JUK3	OTTHUMG00000020917	ENST00000263604.3:c.1063G>A	9.37:g.138656961G>A	ENSP00000263604:p.Val355Met					KCNT1_ENST00000263604.3_Missense_Mutation_p.V355M|KCNT1_ENST00000491806.2_Missense_Mutation_p.V341M|KCNT1_ENST00000488444.2_Missense_Mutation_p.V355M|KCNT1_ENST00000487664.1_Missense_Mutation_p.V329M|KCNT1_ENST00000486577.2_Missense_Mutation_p.V335M|KCNT1_ENST00000371757.2_Missense_Mutation_p.V374M|KCNT1_ENST00000490355.2_Missense_Mutation_p.V355M	p.V374M			B7ZVY4	B7ZVY4_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05)	12	1194	+		Myeloproliferative disorder(178;0.0821)	374					B3KXF7|B7ZVY4|B9EGP2|G5E9V0|Q9P2C5	Missense_Mutation	SNP	ENST00000263604.3	37	c.1120G>A		.	.	.	.	.	.	.	.	.	.	G	25.2	4.613223	0.87359	.	.	ENSG00000107147	ENST00000487664;ENST00000298480;ENST00000371757;ENST00000486577;ENST00000491806;ENST00000488444;ENST00000490355;ENST00000263604	T;T;T;T	0.25250	1.81;1.81;1.81;1.81	4.35	4.35	0.52113	NAD(P)-binding domain (1);	0.000000	0.64402	U	0.000003	T	0.55497	0.1924	M	0.86651	2.83	0.80722	D	1	D;D;D;D	0.89917	0.981;1.0;0.999;1.0	P;D;D;D	0.68353	0.841;0.957;0.944;0.957	T	0.65998	-0.6032	10	0.87932	D	0	-34.9174	16.0187	0.80464	0.0:0.0:1.0:0.0	.	341;374;329;355	C9JYL2;B9EGP2;G5E9V0;Q5JUK3	.;.;.;KCNT1_HUMAN	M	329;374;374;335;341;355;355;355	ENSP00000417851:V329M;ENSP00000298480:V374M;ENSP00000360822:V374M;ENSP00000263604:V355M	ENSP00000263604:V355M	V	+	1	0	KCNT1	137796782	1.000000	0.71417	0.999000	0.59377	0.947000	0.59692	9.285000	0.95894	2.241000	0.73720	0.462000	0.41574	GTG		0.612	KCNT1-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_020822		4	93	0	0	0	0.217242	0	4	93					A	138656961	G	A	138656961	3	1	209	1	0	0	0	0	1	0	0	0	8091	1145	40	1	1166	1	KCNT1	9	138656961	Missense_Mutation	SNP	G	TCGA-HC-7233-01A-11D-2114-08	3453179	138656961	2556470	29	9651											
TRAF2	7186	broad.mit.edu	37	chr9	139793320	139793320	+	Missense_Mutation	SNP	G	G	T																															ctgcagaaacgtcctccgcaGgcccttccaggcgcagtgtg																										TCGA-HC-7233-01A-11D-2114-08	TCGA-HC-7233-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c9a5dbc-f7f3-43e7-83d1-77b9fb4b8b54	112415c3-8cea-4608-9f55-c5714ac77390	g.chr9:139793320G>T	ENST00000247668.2	+	2	180	c.128G>T	c.(127-129)aGg>aTg	p.R43M	TRAF2_ENST00000359662.3_Missense_Mutation_p.R43M|TRAF2_ENST00000536468.1_Missense_Mutation_p.R43M	NM_021138.3	NP_066961.2	Q12933	TRAF2_HUMAN	TNF receptor-associated factor 2	43					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of NF-kappaB-inducing kinase activity (GO:0007250)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cellular protein complex assembly (GO:0043623)|cellular response to nitric oxide (GO:0071732)|innate immune response (GO:0045087)|negative regulation of glial cell apoptotic process (GO:0034351)|negative regulation of neuron death (GO:1901215)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein homodimerization activity (GO:0090073)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell cytokine production (GO:0002726)|programmed necrotic cell death (GO:0097300)|protein autoubiquitination (GO:0051865)|protein catabolic process (GO:0030163)|protein complex assembly (GO:0006461)|protein heterooligomerization (GO:0051291)|protein homotrimerization (GO:0070207)|protein K63-linked ubiquitination (GO:0070534)|regulation of apoptotic process (GO:0042981)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|regulation of immunoglobulin secretion (GO:0051023)|signal transduction (GO:0007165)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	CD40 receptor complex (GO:0035631)|cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|membrane raft (GO:0045121)|ubiquitin ligase complex (GO:0000151)	CD40 receptor binding (GO:0005174)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|ligase activity (GO:0016874)|protein phosphatase binding (GO:0019903)|signal transducer activity (GO:0004871)|sphingolipid binding (GO:0046625)|thioesterase binding (GO:0031996)|tumor necrosis factor receptor binding (GO:0005164)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.229)	OV - Ovarian serous cystadenocarcinoma(145;4.48e-06)|Epithelial(140;9.55e-06)		GTCCTCCGCAGGCCCTTCCAG	0.667																																						ENST00000359662.3																			0				breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						c.(127-129)aGg>aTg		TNF receptor-associated factor 2							34	34	34					9																	139793320		2203	4300	6503	SO:0001583	missense	7186				activation of caspase activity|activation of NF-kappaB-inducing kinase activity|activation of pro-apoptotic gene products|cellular protein complex assembly|induction of apoptosis by extracellular signals|positive regulation of interleukin-2 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of T cell cytokine production|protein autoubiquitination|protein homotrimerization|protein K63-linked ubiquitination|tumor necrosis factor-mediated signaling pathway	CD40 receptor complex|cytosol|internal side of plasma membrane	CD40 receptor binding|enzyme binding|protein binding|signal transducer activity|sphingolipid binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr9:139793320G>T	U12597	CCDS7013.1	9q34	2013-01-09			ENSG00000127191	ENSG00000127191		"RING-type (C3HC4) zinc fingers"	12032	protein-coding gene	gene with protein product		601895				7639698	Standard	NM_021138		Approved	TRAP3	uc004cjv.3	Q12933	OTTHUMG00000020952	ENST00000247668.2:c.128G>T	9.37:g.139793320G>T	ENSP00000247668:p.Arg43Met					TRAF2_ENST00000536468.1_Missense_Mutation_p.R43M|TRAF2_ENST00000247668.2_Missense_Mutation_p.R43M	p.R43M			Q12933	TRAF2_HUMAN	STAD - Stomach adenocarcinoma(284;0.229)	OV - Ovarian serous cystadenocarcinoma(145;4.48e-06)|Epithelial(140;9.55e-06)	2	173	+	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0511)	43					A8K107|B4DPJ7|Q7Z337|Q96NT2	Missense_Mutation	SNP	ENST00000247668.2	37	c.128G>T	CCDS7013.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.965357	0.74131	.	.	ENSG00000127191	ENST00000419057;ENST00000536468;ENST00000429509;ENST00000432785;ENST00000247668;ENST00000359662;ENST00000371645;ENST00000414589	D;D;D;D;D;D	0.86297	-2.1;-2.1;-2.1;-2.1;-2.1;-2.1	4.49	4.49	0.54785	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);Zinc finger, C3HC4 RING-type (1);	0.000000	0.85682	D	0.000000	D	0.93268	0.7855	M	0.78637	2.42	0.54753	D	0.999982	D;D;D;D	0.89917	1.0;0.999;1.0;0.994	D;D;D;D	0.79784	0.987;0.976;0.993;0.957	D	0.94171	0.7423	10	0.66056	D	0.02	-39.3385	17.5267	0.87802	0.0:0.0:1.0:0.0	.	43;43;43;43	Q12933-3;Q12933-4;Q12933-2;Q12933	.;.;.;TRAF2_HUMAN	M	43;43;43;67;43;43;43;43	ENSP00000405860:R43M;ENSP00000446414:R43M;ENSP00000406524:R43M;ENSP00000247668:R43M;ENSP00000352685:R43M;ENSP00000397653:R43M	ENSP00000247668:R43M	R	+	2	0	TRAF2	138913141	1.000000	0.71417	0.999000	0.59377	0.854000	0.48673	3.230000	0.51286	2.205000	0.71048	0.491000	0.48974	AGG		0.667	TRAF2-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055166.1	NM_021138		8	14	1	0	0.000157383	0.27861	0.000174246	8	14					T	139793320	G	T	139793320	3	4	209	1	0	0	0	0	1	0	0	0	16435	1000	35	5	130	5	TRAF2	9	139793320	Missense_Mutation	SNP	G	TCGA-HC-7233-01A-11D-2114-08	1136359	139793320	1420111	30	9652	51	2									
TRAF2	7186	broad.mit.edu	37	chr9	139793321	139793321	+	Missense_Mutation	SNP	G	G	T																															tgcagaaacgtcctccgcagGcccttccaggcgcagtgtgg																										TCGA-HC-7233-01A-11D-2114-08	TCGA-HC-7233-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c9a5dbc-f7f3-43e7-83d1-77b9fb4b8b54	112415c3-8cea-4608-9f55-c5714ac77390	g.chr9:139793321G>T	ENST00000247668.2	+	2	181	c.129G>T	c.(127-129)agG>agT	p.R43S	TRAF2_ENST00000359662.3_Missense_Mutation_p.R43S|TRAF2_ENST00000536468.1_Missense_Mutation_p.R43S	NM_021138.3	NP_066961.2	Q12933	TRAF2_HUMAN	TNF receptor-associated factor 2	43					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of NF-kappaB-inducing kinase activity (GO:0007250)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cellular protein complex assembly (GO:0043623)|cellular response to nitric oxide (GO:0071732)|innate immune response (GO:0045087)|negative regulation of glial cell apoptotic process (GO:0034351)|negative regulation of neuron death (GO:1901215)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein homodimerization activity (GO:0090073)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell cytokine production (GO:0002726)|programmed necrotic cell death (GO:0097300)|protein autoubiquitination (GO:0051865)|protein catabolic process (GO:0030163)|protein complex assembly (GO:0006461)|protein heterooligomerization (GO:0051291)|protein homotrimerization (GO:0070207)|protein K63-linked ubiquitination (GO:0070534)|regulation of apoptotic process (GO:0042981)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|regulation of immunoglobulin secretion (GO:0051023)|signal transduction (GO:0007165)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	CD40 receptor complex (GO:0035631)|cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|membrane raft (GO:0045121)|ubiquitin ligase complex (GO:0000151)	CD40 receptor binding (GO:0005174)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|ligase activity (GO:0016874)|protein phosphatase binding (GO:0019903)|signal transducer activity (GO:0004871)|sphingolipid binding (GO:0046625)|thioesterase binding (GO:0031996)|tumor necrosis factor receptor binding (GO:0005164)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.229)	OV - Ovarian serous cystadenocarcinoma(145;4.48e-06)|Epithelial(140;9.55e-06)		TCCTCCGCAGGCCCTTCCAGG	0.662																																						ENST00000359662.3																			0				breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						c.(127-129)agG>agT		TNF receptor-associated factor 2							34	33	33					9																	139793321		2203	4300	6503	SO:0001583	missense	7186				activation of caspase activity|activation of NF-kappaB-inducing kinase activity|activation of pro-apoptotic gene products|cellular protein complex assembly|induction of apoptosis by extracellular signals|positive regulation of interleukin-2 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of T cell cytokine production|protein autoubiquitination|protein homotrimerization|protein K63-linked ubiquitination|tumor necrosis factor-mediated signaling pathway	CD40 receptor complex|cytosol|internal side of plasma membrane	CD40 receptor binding|enzyme binding|protein binding|signal transducer activity|sphingolipid binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr9:139793321G>T	U12597	CCDS7013.1	9q34	2013-01-09			ENSG00000127191	ENSG00000127191		"RING-type (C3HC4) zinc fingers"	12032	protein-coding gene	gene with protein product		601895				7639698	Standard	NM_021138		Approved	TRAP3	uc004cjv.3	Q12933	OTTHUMG00000020952	ENST00000247668.2:c.129G>T	9.37:g.139793321G>T	ENSP00000247668:p.Arg43Ser					TRAF2_ENST00000536468.1_Missense_Mutation_p.R43S|TRAF2_ENST00000247668.2_Missense_Mutation_p.R43S	p.R43S			Q12933	TRAF2_HUMAN	STAD - Stomach adenocarcinoma(284;0.229)	OV - Ovarian serous cystadenocarcinoma(145;4.48e-06)|Epithelial(140;9.55e-06)	2	174	+	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0511)	43					A8K107|B4DPJ7|Q7Z337|Q96NT2	Missense_Mutation	SNP	ENST00000247668.2	37	c.129G>T	CCDS7013.1	.	.	.	.	.	.	.	.	.	.	G	18.10	3.548125	0.65311	.	.	ENSG00000127191	ENST00000419057;ENST00000536468;ENST00000429509;ENST00000432785;ENST00000247668;ENST00000359662;ENST00000371645;ENST00000414589	D;D;D;D;D;D	0.85955	-2.05;-2.05;-2.05;-2.05;-2.05;-2.05	4.49	-0.181	0.13291	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);Zinc finger, C3HC4 RING-type (1);	0.000000	0.85682	D	0.000000	D	0.86251	0.5888	L	0.52573	1.65	0.53688	D	0.999977	D;P;D;P	0.69078	0.991;0.944;0.997;0.772	D;P;D;P	0.71184	0.931;0.81;0.972;0.602	T	0.81075	-0.1097	10	0.25106	T	0.35	-39.3385	8.8342	0.35102	0.5332:0.0:0.4668:0.0	.	43;43;43;43	Q12933-3;Q12933-4;Q12933-2;Q12933	.;.;.;TRAF2_HUMAN	S	43;43;43;67;43;43;43;43	ENSP00000405860:R43S;ENSP00000446414:R43S;ENSP00000406524:R43S;ENSP00000247668:R43S;ENSP00000352685:R43S;ENSP00000397653:R43S	ENSP00000247668:R43S	R	+	3	2	TRAF2	138913142	1.000000	0.71417	0.998000	0.56505	0.888000	0.51559	0.654000	0.24918	0.113000	0.18004	0.491000	0.48974	AGG		0.662	TRAF2-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055166.1	NM_021138		7	14	1	0	0.00198382	0.248553	0.00212063	7	14					T	139793321	G	T	139793321	3	4	209	1	0	0	0	0	1	0	0	0	16435	1194	42	5	131	5	TRAF2	9	139793321	Missense_Mutation	SNP	G	TCGA-HC-7233-01A-11D-2114-08	1	139793321	1420110	31	9653	51	2									
CBARA1	10367	broad.mit.edu	37	chr10	74128038	74128038	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggcgagtgaaacccatgtctTtgggcttttccaggcctctc	6	12	11	12	1	2	1	0	1	2	0	4	2	3	1	3	3	1	1	3	3	1	3			TCGA-HC-7233-01A-11D-2114-08	TCGA-HC-7233-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c9a5dbc-f7f3-43e7-83d1-77b9fb4b8b54	112415c3-8cea-4608-9f55-c5714ac77390	g.chr10:74128038T>C	ENST00000361114.5	-	12	1442	c.1346A>G	c.(1345-1347)aAa>aGa	p.K449R	MICU1_ENST00000398763.4_Missense_Mutation_p.K251R|MICU1_ENST00000398761.4_Missense_Mutation_p.K451R|MICU1_ENST00000418483.2_Missense_Mutation_p.K251R|MICU1_ENST00000401998.3_Missense_Mutation_p.K449R	NM_001195518.1|NM_006077.3	NP_001182447.1|NP_006068.2	Q9BPX6	MICU1_HUMAN	mitochondrial calcium uptake 1	449				K -> E (in Ref. 1; BAG60593). {ECO:0000305}.	calcium ion import (GO:0070509)|calcium ion transmembrane import into mitochondrion (GO:0036444)|defense response (GO:0006952)|mitochondrial calcium ion homeostasis (GO:0051560)|mitochondrial calcium ion transport (GO:0006851)|positive regulation of mitochondrial calcium ion concentration (GO:0051561)|protein homooligomerization (GO:0051260)	calcium channel complex (GO:0034704)|integral component of mitochondrial membrane (GO:0032592)|intracellular (GO:0005622)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|uniplex complex (GO:1990246)	calcium ion binding (GO:0005509)|protein heterodimerization activity (GO:0046982)										ACCCATGTCTTTGGGCTTTTC	0.493																																						ENST00000398761.4																			0											c.(1351-1353)aAa>aGa		mitochondrial calcium uptake 1							95	93	94					10																	74128038		1943	4140	6083	SO:0001583	missense	10367				calcium ion import|defense response|elevation of mitochondrial calcium ion concentration	integral to membrane|mitochondrial inner membrane	calcium ion binding|protein binding	g.chr10:74128038T>C	Y17711	CCDS55714.1, CCDS55715.1	10q22.1	2013-01-10	2011-06-23	2011-06-23	ENSG00000107745	ENSG00000107745		"EF-hand domain containing"	1530	protein-coding gene	gene with protein product		605084	"calcium binding atopy-related autoantigen 1"	CBARA1		9806765, 20693986	Standard	NM_006077		Approved	CALC, EFHA3, FLJ12684	uc001jtb.2	Q9BPX6	OTTHUMG00000018437	ENST00000361114.5:c.1346A>G	10.37:g.74128038T>C	ENSP00000354415:p.Lys449Arg					MICU1_ENST00000361114.5_Missense_Mutation_p.K449R|MICU1_ENST00000401998.3_Missense_Mutation_p.K449R|MICU1_ENST00000418483.2_Missense_Mutation_p.K251R|MICU1_ENST00000398763.4_Missense_Mutation_p.K251R	p.K451R			Q9BPX6	MICU1_HUMAN			14	1484	-			449					A8MV96|B3KN20|B4DJH9|B4DPI1|B5MBY3|D3YTJ3|O75785|Q9H9N6|Q9UFX0	Missense_Mutation	SNP	ENST00000361114.5	37	c.1352A>G	CCDS55715.1	.	.	.	.	.	.	.	.	.	.	T	22.1	4.249749	0.80024	.	.	ENSG00000107745	ENST00000361114;ENST00000398761;ENST00000401998;ENST00000418483;ENST00000398763	T;T;T;T;T	0.80033	-1.32;-1.33;-1.32;0.95;0.95	5.93	5.93	0.95920	EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	T	0.77110	0.4082	N	0.26130	0.795	0.80722	D	1	B;B;P	0.40515	0.448;0.448;0.719	P;B;B	0.47573	0.55;0.399;0.348	T	0.73805	-0.3867	10	0.20519	T	0.43	.	16.3721	0.83368	0.0:0.0:0.0:1.0	.	251;251;449	Q9BPX6-4;Q9BPX6-5;Q9BPX6	.;.;MICU1_HUMAN	R	449;451;449;251;251	ENSP00000354415:K449R;ENSP00000381745:K451R;ENSP00000384068:K449R;ENSP00000402470:K251R;ENSP00000381747:K251R	ENSP00000354415:K449R	K	-	2	0	MICU1	73798044	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	8.013000	0.88655	2.257000	0.74773	0.533000	0.62120	AAA		0.493	MICU1-002	KNOWN	overlapping_uORF|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048586.1	NM_006077		13	41	0	0	0	0.520397	0	13	41					C	74128038	T	C	74128038	3	2	209	1	0	0	0	0	1	0	0	0	2696	1841	64	4	88	4	CBARA1	10	74128038	Missense_Mutation	SNP	T	TCGA-HC-7233-01A-11D-2114-08		74128038	61406709	32	9654											
SLIT1	6585	broad.mit.edu	37	chr10	98764485	98764485	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctggggtagctgcctgggtcGtagctgacacgcacatggcc	6	8	15	12	2	0	1	0	1	0	0	1	1	0	1	2	4	3	5	2	4	2	2			TCGA-HC-7233-01A-11D-2114-08	TCGA-HC-7233-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c9a5dbc-f7f3-43e7-83d1-77b9fb4b8b54	112415c3-8cea-4608-9f55-c5714ac77390	g.chr10:98764485G>A	ENST00000266058.4	-	33	3920	c.3675C>T	c.(3673-3675)taC>taT	p.Y1225Y	ARHGAP19-SLIT1_ENST00000453547.2_3'UTR|SLIT1_ENST00000371070.4_Silent_p.Y1225Y	NM_003061.2	NP_003052.2	O75093	SLIT1_HUMAN	slit homolog 1 (Drosophila)	1225	Laminin G-like. {ECO:0000255|PROSITE- ProRule:PRU00122}.				axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|dorsal/ventral axon guidance (GO:0033563)|establishment of nucleus localization (GO:0040023)|forebrain morphogenesis (GO:0048853)|motor neuron axon guidance (GO:0008045)|negative chemotaxis (GO:0050919)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of synapse assembly (GO:0051964)|retinal ganglion cell axon guidance (GO:0031290)|spinal cord development (GO:0021510)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)	extracellular space (GO:0005615)	calcium ion binding (GO:0005509)|Roundabout binding (GO:0048495)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(37)|ovary(5)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	78		Colorectal(252;0.162)		Epithelial(162;2.02e-08)|all cancers(201;1.5e-06)		TGCCTGGGTCGTAGCTGACAC	0.607																																						ENST00000266058.4																			0				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(37)|ovary(5)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	78						c.(3673-3675)taC>taT		slit homolog 1 (Drosophila)							245	178	201					10																	98764485		2203	4300	6503	SO:0001819	synonymous_variant	6585				axon extension involved in axon guidance|forebrain morphogenesis|motor axon guidance|negative chemotaxis|negative regulation of synaptogenesis	cytoplasm|extracellular space	calcium ion binding|Roundabout binding	g.chr10:98764485G>A	AB011537	CCDS7453.1	10q23.3-q24	2008-08-01	2001-11-28		ENSG00000187122	ENSG00000187122			11085	protein-coding gene	gene with protein product		603742	"slit (Drosophila) homolog 1"	SLIL1		9693030, 9813312	Standard	NM_003061		Approved	slit1, MEGF4, Slit-1, SLIT3	uc001kmw.2	O75093	OTTHUMG00000018843	ENST00000266058.4:c.3675C>T	10.37:g.98764485G>A						ARHGAP19-SLIT1_ENST00000453547.2_3'UTR|SLIT1_ENST00000371070.4_Silent_p.Y1225Y	p.Y1225Y	NM_003061.2	NP_003052.2	O75093	SLIT1_HUMAN		Epithelial(162;2.02e-08)|all cancers(201;1.5e-06)	33	3920	-		Colorectal(252;0.162)	1225			Laminin G-like.		Q5T0V1|Q8WWZ2|Q9UIL7	Silent	SNP	ENST00000266058.4	37	c.3675C>T	CCDS7453.1																																																																																				0.607	SLIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049636.1	NM_003061		3	59	0	0	0	0.184627	0	3	59					A	98764485	G	A	98764485	2	1	209	1	0	0	0	0	0	0	0	1	14739	1140	40	1		1	SLIT1	10	98764485	Silent	SNP	G	TCGA-HC-7233-01A-11D-2114-08	24636447	98764485	36770262	33	9655											
ZRANB1	54764	broad.mit.edu	37	chr10	126662280	126662281	+	Frame_Shift_Del	DEL	AA	AA	-																															ggtgcttgatagagacgttcAaaaaggtaagcatggaatta																										TCGA-HC-7233-01A-11D-2114-08	TCGA-HC-7233-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c9a5dbc-f7f3-43e7-83d1-77b9fb4b8b54	112415c3-8cea-4608-9f55-c5714ac77390	g.chr10:126662280_126662281delAA	ENST00000359653.4	+	4	1594_1595	c.1223_1224delAA	c.(1222-1224)caafs	p.Q408fs		NM_017580.2	NP_060050.2	Q9UGI0	ZRAN1_HUMAN	zinc finger, RAN-binding domain containing 1	408	TRAF-binding.				cell migration (GO:0016477)|cytoskeleton organization (GO:0007010)|positive regulation of Wnt signaling pathway (GO:0030177)|protein deubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0071947)|protein K29-linked deubiquitination (GO:0035523)|protein K33-linked deubiquitination (GO:1990168)|protein K63-linked deubiquitination (GO:0070536)|regulation of cell morphogenesis (GO:0022604)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	K63-linked polyubiquitin binding (GO:0070530)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	23		all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.172)		Colorectal(40;0.113)|COAD - Colon adenocarcinoma(40;0.119)		AGAGACGTTCAAAAAGGTAAGC	0.337																																						ENST00000359653.4																			0				NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	23						c.(1222-1224)cfs		zinc finger, RAN-binding domain containing 1																																				SO:0001589	frameshift_variant	54764				positive regulation of Wnt receptor signaling pathway|protein K63-linked deubiquitination|Wnt receptor signaling pathway	aggresome|centrosome|intermediate filament cytoskeleton|nucleolus	cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity|zinc ion binding	g.chr10:126662280_126662281delAA	AJ252060	CCDS7642.1	10q26.12	2014-02-24			ENSG00000019995	ENSG00000019995		"Zinc fingers, RAN-binding domain containing", "OTU domain containing"	18224	protein-coding gene	gene with protein product		611749				11463333	Standard	NM_017580		Approved	TRABID	uc001lic.3	Q9UGI0	OTTHUMG00000019223	ENST00000359653.4:c.1223_1224delAA	10.37:g.126662282_126662283delAA	ENSP00000352676:p.Gln408fs						p.Q408fs	NM_017580.2	NP_060050.2	Q9UGI0	ZRAN1_HUMAN		Colorectal(40;0.113)|COAD - Colon adenocarcinoma(40;0.119)	4	1594_1595	+		all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.172)	408			TRAF-binding.		B4DZ98|D3DRF4|Q5SQP6|Q69YK3	Frame_Shift_Del	DEL	ENST00000359653.4	37	c.1223_1224delAA	CCDS7642.1																																																																																				0.337	ZRANB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050898.1	NM_017580		19	181						19	181	---	---	---	---	-	126662281	AA	-	126662280	7	5	209	1	0	1	0	1	0	0	0	0	18219	130	5	0	1237	0	ZRANB1	10	126662280	Frame_Shift_Del	DEL	AA	TCGA-HC-7233-01A-11D-2114-08	27897795	126662280	8872467	34	9656											
CSTF3	1479	broad.mit.edu	37	chr11	33117876	33117876	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gaggtgagaaagatagtcaaTataggccaggacatactctg	15	8	12	6	0	2	2	1	1	1	2	2	5	2	3	1	3	1	0	1	3	6	4			TCGA-HC-7233-01A-11D-2114-08	TCGA-HC-7233-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c9a5dbc-f7f3-43e7-83d1-77b9fb4b8b54	112415c3-8cea-4608-9f55-c5714ac77390	g.chr11:33117876T>C	ENST00000323959.4	-	15	1490	c.1351A>G	c.(1351-1353)Att>Gtt	p.I451V	TCP11L1_ENST00000324357.9_Intron	NM_001326.2	NP_001317.1	Q12996	CSTF3_HUMAN	cleavage stimulation factor, 3' pre-RNA, subunit 3, 77kDa	451					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA cleavage (GO:0006379)|mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|prostate(1)|skin(1)|stomach(1)	19						AGATAGTCAATATAGGCCAGG	0.338																																						ENST00000323959.4																			0				breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|prostate(1)|skin(1)|stomach(1)	19						c.(1351-1353)Att>Gtt		cleavage stimulation factor, 3' pre-RNA, subunit 3, 77kDa							69	75	73					11																	33117876		2202	4295	6497	SO:0001583	missense	1479				mRNA cleavage|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nucleoplasm	protein binding|RNA binding	g.chr11:33117876T>C	U15782	CCDS7883.1, CCDS44563.1, CCDS44564.1	11p13	2007-01-05	2002-08-29		ENSG00000176102	ENSG00000176102			2485	protein-coding gene	gene with protein product		600367	"cleavage stimulation factor, 3' pre-RNA, subunit 3, 77kD"			7984242	Standard	XM_006718154		Approved	CstF-77	uc001muh.3	Q12996	OTTHUMG00000166268	ENST00000323959.4:c.1351A>G	11.37:g.33117876T>C	ENSP00000315791:p.Ile451Val					TCP11L1_ENST00000324357.9_Intron	p.I451V	NM_001326.2	NP_001317.1	Q12996	CSTF3_HUMAN			15	1490	-			451					A8K471|D3DR04|E9PB40|Q32P22|Q96FQ8|Q96QD6|Q96QK4	Missense_Mutation	SNP	ENST00000323959.4	37	c.1351A>G	CCDS7883.1	.	.	.	.	.	.	.	.	.	.	T	14.78	2.637443	0.47049	.	.	ENSG00000176102	ENST00000323959;ENST00000537832	T	0.37584	1.19	5.91	5.91	0.95273	Suppressor of forked (1);	0.000000	0.85682	D	0.000000	T	0.33381	0.0861	L	0.37466	1.105	0.80722	D	1	B	0.16802	0.019	B	0.22152	0.038	T	0.05370	-1.0889	10	0.45353	T	0.12	.	16.3432	0.83101	0.0:0.0:0.0:1.0	.	451	Q12996	CSTF3_HUMAN	V	451;384	ENSP00000315791:I451V	ENSP00000315791:I451V	I	-	1	0	CSTF3	33074452	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.073000	0.71245	2.263000	0.75096	0.377000	0.23210	ATT		0.338	CSTF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388801.1	NM_001326		29	66	0	0	0	0.812448	0	29	66					C	33117876	T	C	33117876	3	2	209	1	0	0	0	0	1	0	0	0	3986	1406	49	4	830	4	CSTF3	11	33117876	Missense_Mutation	SNP	T	TCGA-HC-7233-01A-11D-2114-08		33117876	101888640	35	9657											
PHLDB1	23187	broad.mit.edu	37	chr11	118498113	118498113	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccacagttccctggtgagcTctattgagaaggacctgcaa	10	9	11	11	0	1	2	0	2	1	1	2	4	2	3	3	2	2	3	3	2	3	3			TCGA-HC-7233-01A-11D-2114-08	TCGA-HC-7233-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c9a5dbc-f7f3-43e7-83d1-77b9fb4b8b54	112415c3-8cea-4608-9f55-c5714ac77390	g.chr11:118498113T>C	ENST00000361417.2	+	7	985	c.574T>C	c.(574-576)Tct>Cct	p.S192P	PHLDB1_ENST00000356063.5_Missense_Mutation_p.S192P	NM_015157.3	NP_055972.1	Q86UU1	PHLB1_HUMAN	pleckstrin homology-like domain, family B, member 1	192										breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(10)|liver(3)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(1)	46	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)		CCTGGTGAGCTCTATTGAGAA	0.572																																						ENST00000361417.2																			0				breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(10)|liver(3)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(1)	46						c.(574-576)Tct>Cct		pleckstrin homology-like domain, family B, member 1							68	62	64					11																	118498113		2200	4295	6495	SO:0001583	missense	23187							g.chr11:118498113T>C		CCDS8401.1, CCDS44750.1	11q23.3	2013-01-10			ENSG00000019144	ENSG00000019144		"Pleckstrin homology (PH) domain containing"	23697	protein-coding gene	gene with protein product		612834				14532993	Standard	NM_015157		Approved	FLJ00141, LL5a, KIAA0638	uc001pts.3	Q86UU1	OTTHUMG00000166341	ENST00000361417.2:c.574T>C	11.37:g.118498113T>C	ENSP00000354498:p.Ser192Pro					PHLDB1_ENST00000356063.5_Missense_Mutation_p.S192P	p.S192P	NM_015157.3	NP_055972.1	Q86UU1	PHLB1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)	7	985	+	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)|all_neural(223;0.224)	192					B0YJ63|B0YJ64|O75133|Q4KMF8|Q8TEQ2	Missense_Mutation	SNP	ENST00000361417.2	37	c.574T>C	CCDS8401.1	.	.	.	.	.	.	.	.	.	.	T	19.91	3.913858	0.72983	.	.	ENSG00000019144	ENST00000361417;ENST00000543207;ENST00000545313;ENST00000356063	T;T	0.36699	1.24;1.24	5.94	5.94	0.96194	.	0.284702	0.33938	N	0.004401	T	0.57489	0.2057	L	0.58101	1.795	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.998	D;D;D	0.83275	0.996;0.996;0.994	T	0.57248	-0.7844	10	0.52906	T	0.07	-20.0667	16.0685	0.80907	0.0:0.0:0.0:1.0	.	191;192;192	B4DIX4;Q86UU1-2;Q86UU1	.;.;PHLB1_HUMAN	P	192;191;192;192	ENSP00000354498:S192P;ENSP00000348359:S192P	ENSP00000348359:S192P	S	+	1	0	PHLDB1	118003323	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.542000	0.82095	2.272000	0.75746	0.460000	0.39030	TCT		0.572	PHLDB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389279.1	NM_015157		17	49	0	0	0	0.539581	0	17	49					C	118498113	T	C	118498113	3	2	209	1	0	0	0	0	1	0	0	0	11851	1551	54	4	592	4	PHLDB1	11	118498113	Missense_Mutation	SNP	T	TCGA-HC-7233-01A-11D-2114-08	85380237	118498113	16508403	36	9658											
GPRC5A	9052	broad.mit.edu	37	chr12	13061954	13061954	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gccaatggctgggtgttcctGttggcttatgttagtcccga	5	14	13	9	1	0	0	0	0	0	0	2	1	2	0	3	3	0	5	3	3	3	4			TCGA-HC-7233-01A-11D-2114-08	TCGA-HC-7233-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c9a5dbc-f7f3-43e7-83d1-77b9fb4b8b54	112415c3-8cea-4608-9f55-c5714ac77390	g.chr12:13061954G>A	ENST00000014914.5	+	2	1661	c.771G>A	c.(769-771)ctG>ctA	p.L257L	GPRC5A_ENST00000542056.1_Intron	NM_003979.3	NP_003970.1	Q8NFJ5	RAI3_HUMAN	G protein-coupled receptor, class C, group 5, member A	257					signal transduction (GO:0007165)	cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	18		Prostate(47;0.141)		BRCA - Breast invasive adenocarcinoma(232;0.0708)	Tretinoin(DB00755)	GGGTGTTCCTGTTGGCTTATG	0.532																																						ENST00000014914.5																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	18						c.(769-771)ctG>ctA		G protein-coupled receptor, family C, group 5, member A	Tretinoin(DB00755)						102	81	88					12																	13061954		2203	4300	6503	SO:0001819	synonymous_variant	0					cytoplasmic vesicle membrane|Golgi apparatus|integral to plasma membrane	G-protein coupled receptor activity	g.chr12:13061954G>A	AF095448	CCDS8657.1	12p13-p12.3	2014-01-30	2014-01-30	2005-05-03		ENSG00000013588		"GPCR / Class C : Orphans"	9836	protein-coding gene	gene with protein product		604138	"retinoic acid induced 3", "G protein-coupled receptor, family C, group 5, member A"	RAI3, GPCR5A		9857033	Standard	NM_003979		Approved	RAIG1	uc001rba.3	Q8NFJ5		ENST00000014914.5:c.771G>A	12.37:g.13061954G>A						GPRC5A_ENST00000542056.1_Intron	p.L257L	NM_003979.3	NP_003970.1	Q8NFJ5	RAI3_HUMAN		BRCA - Breast invasive adenocarcinoma(232;0.0708)	2	1661	+		Prostate(47;0.141)	257					B3KV45|O95357	Silent	SNP	ENST00000014914.5	37	c.771G>A	CCDS8657.1																																																																																				0.532	GPRC5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400682.1			11	30	0	0	0	0.411799	0	11	30					A	13061954	G	A	13061954	2	1	209	1	0	0	0	0	0	0	0	1	6724	1364	48	3		3	GPRC5A	12	13061954	Silent	SNP	G	TCGA-HC-7233-01A-11D-2114-08		13061954	120789941	37	9659											
KRT84	3890	broad.mit.edu	37	chr12	52774883	52774883	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cctgagccttggcgtgctcaAtctctgccttaagcctctgg	5	12	10	14	1	3	1	1	1	2	0	4	1	3	1	4	2	4	1	4	2	2	2			TCGA-HC-7233-01A-11D-2114-08	TCGA-HC-7233-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c9a5dbc-f7f3-43e7-83d1-77b9fb4b8b54	112415c3-8cea-4608-9f55-c5714ac77390	g.chr12:52774883A>G	ENST00000257951.3	-	6	1250	c.1184T>C	c.(1183-1185)aTt>aCt	p.I395T	RP3-416H24.4_ENST00000547174.1_RNA	NM_033045.3	NP_149034.2	Q9NSB2	KRT84_HUMAN	keratin 84	395	Coil 2.|Rod.				hair follicle development (GO:0001942)|nail development (GO:0035878)|regulation of keratinocyte differentiation (GO:0045616)	extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	structural constituent of cytoskeleton (GO:0005200)|structural constituent of epidermis (GO:0030280)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(10)|skin(3)	27	all_hematologic(5;0.12)			BRCA - Breast invasive adenocarcinoma(357;0.189)		GGCGTGCTCAATCTCTGCCTT	0.562																																						ENST00000257951.3																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(10)|skin(3)	27						c.(1183-1185)aTt>aCt		keratin 84							236	208	217					12																	52774883		2203	4300	6503	SO:0001583	missense	3890					keratin filament	structural constituent of epidermis	g.chr12:52774883A>G	Y19209	CCDS8825.1	12q13	2013-06-25	2006-07-17	2006-07-17	ENSG00000161849	ENSG00000161849		"-", "Intermediate filaments type II, keratins (basic)"	6461	protein-coding gene	gene with protein product	"hard keratin type II 4"	602766	"keratin, hair, basic, 4"	KRTHB4		2431943, 16831889	Standard	NM_033045		Approved	Hb-4	uc001sah.1	Q9NSB2	OTTHUMG00000169634	ENST00000257951.3:c.1184T>C	12.37:g.52774883A>G	ENSP00000257951:p.Ile395Thr					RP3-416H24.4_ENST00000547174.1_RNA	p.I395T	NM_033045.3	NP_149034.2	Q9NSB2	KRT84_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.189)	6	1250	-	all_hematologic(5;0.12)		395			Coil 2.|Rod.		B2RA43|Q6ISB0|Q701L6	Missense_Mutation	SNP	ENST00000257951.3	37	c.1184T>C	CCDS8825.1	.	.	.	.	.	.	.	.	.	.	a	14.37	2.515090	0.44763	.	.	ENSG00000161849	ENST00000257951	D	0.91068	-2.78	5.54	3.05	0.35203	Filament (1);	0.470122	0.18319	N	0.144875	D	0.88753	0.6522	M	0.77406	2.37	0.27017	N	0.964553	B	0.18166	0.026	B	0.18871	0.023	T	0.82715	-0.0320	10	0.62326	D	0.03	.	7.3466	0.26666	0.8018:0.0:0.07:0.1282	.	395	Q9NSB2	KRT84_HUMAN	T	395	ENSP00000257951:I395T	ENSP00000257951:I395T	I	-	2	0	KRT84	51061150	0.975000	0.34042	0.520000	0.27837	0.899000	0.52679	3.818000	0.55678	0.941000	0.37499	-0.253000	0.11424	ATT		0.562	KRT84-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405187.1	NM_033045		8	196	0	0	0	0.335167	0	8	196					G	52774883	A	G	52774883	3	3	209	1	0	0	0	0	1	0	0	0	8498	101	4	4	634	4	KRT84	12	52774883	Missense_Mutation	SNP	A	TCGA-HC-7233-01A-11D-2114-08	39712929	52774883	81077012	38	9660											
TEP1	7011	broad.mit.edu	37	chr14	20845843	20845843	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgggctgagtgccacagagaGggcaggagagagagaaaggg	13	3	20	5	0	0	4	0	1	0	3	0	8	0	5	1	4	1	2	1	4	1	0			TCGA-HC-7233-01A-11D-2114-08	TCGA-HC-7233-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c9a5dbc-f7f3-43e7-83d1-77b9fb4b8b54	112415c3-8cea-4608-9f55-c5714ac77390	g.chr14:20845843G>A	ENST00000262715.5	-	40	5831	c.5791C>T	c.(5791-5793)Ctc>Ttc	p.L1931F	TEP1_ENST00000545983.1_Missense_Mutation_p.L269F|TEP1_ENST00000556935.1_Missense_Mutation_p.L1823F	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	1931					RNA-dependent DNA replication (GO:0006278)|telomere maintenance via recombination (GO:0000722)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|ribonucleoprotein complex (GO:0030529)|telomerase holoenzyme complex (GO:0005697)	ATP binding (GO:0005524)|RNA binding (GO:0003723)			NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		GCCACAGAGAGGGCAGGAGAG	0.547																																						ENST00000262715.5																			0				NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96						c.(5791-5793)Ctc>Ttc		telomerase-associated protein 1							80	89	86					14																	20845843		2203	4300	6503	SO:0001583	missense	7011				telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding	g.chr14:20845843G>A		CCDS9548.1	14q11.2	2013-01-10			ENSG00000129566	ENSG00000129566		"WD repeat domain containing"	11726	protein-coding gene	gene with protein product	"TROVE domain family, member 1"	601686				9403057	Standard	NM_007110		Approved	TP1, TLP1, VAULT2, p240, TROVE1	uc001vxe.3	Q99973	OTTHUMG00000029515	ENST00000262715.5:c.5791C>T	14.37:g.20845843G>A	ENSP00000262715:p.Leu1931Phe					TEP1_ENST00000545983.1_Missense_Mutation_p.L269F|TEP1_ENST00000556935.1_Missense_Mutation_p.L1823F	p.L1931F	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)	40	5831	-	all_cancers(95;0.00123)	all_lung(585;0.235)	1931					A0AUV9	Missense_Mutation	SNP	ENST00000262715.5	37	c.5791C>T	CCDS9548.1	.	.	.	.	.	.	.	.	.	.	G	18.99	3.739748	0.69304	.	.	ENSG00000129566	ENST00000262715;ENST00000359243;ENST00000556935;ENST00000545983	T;T;T	0.71341	0.63;-0.56;1.26	4.69	3.77	0.43336	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (2);WD40-repeat-containing domain (1);	0.265718	0.29884	N	0.010956	T	0.75451	0.3851	L	0.52364	1.645	0.39833	D	0.973006	D;D;D;D	0.89917	0.999;1.0;1.0;1.0	D;D;D;D	0.91635	0.946;0.998;0.999;0.996	T	0.70011	-0.4989	10	0.13470	T	0.59	-16.045	10.4552	0.44546	0.095:0.0:0.905:0.0	.	269;1823;1274;1931	B4E0B6;G3V5X7;G3V2A4;Q99973	.;.;.;TEP1_HUMAN	F	1931;1931;1823;269	ENSP00000262715:L1931F;ENSP00000452574:L1823F;ENSP00000438849:L269F	ENSP00000262715:L1931F	L	-	1	0	TEP1	19915683	1.000000	0.71417	0.996000	0.52242	0.723000	0.41478	3.902000	0.56310	2.442000	0.82660	0.563000	0.77884	CTC		0.547	TEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073563.2	NM_007110		3	94	0	0	0	0.150653	0	3	94					A	20845843	G	A	20845843	3	1	209	1	0	0	0	0	1	0	0	0	15756	1000	35	3	2156	3	TEP1	14	20845843	Missense_Mutation	SNP	G	TCGA-HC-7233-01A-11D-2114-08		20845843	86503697	39	9661											
C14orf49	161176	broad.mit.edu	37	chr14	95932575	95932575	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcagccacacccactcgatgCggctgtgggcacagagacct	9	5	12	15	2	0	1	0	0	0	1	1	3	0	1	3	2	2	3	3	2	0	0			TCGA-HC-7233-01A-11D-2114-08	TCGA-HC-7233-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c9a5dbc-f7f3-43e7-83d1-77b9fb4b8b54	112415c3-8cea-4608-9f55-c5714ac77390	g.chr14:95932575C>T	ENST00000334258.5	-	3	334	c.320G>A	c.(319-321)cGc>cAc	p.R107H	SYNE3_ENST00000557275.1_Missense_Mutation_p.R107H|SYNE3_ENST00000553340.1_Missense_Mutation_p.R107H	NM_152592.3	NP_689805.3	Q6ZMZ3	SYNE3_HUMAN	spectrin repeat containing, nuclear envelope family member 3	107					cytoskeletal anchoring at nuclear membrane (GO:0090286)|cytoskeleton organization (GO:0007010)|establishment of protein localization to membrane (GO:0090150)|regulation of cell shape (GO:0008360)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear outer membrane (GO:0005640)|SUN-KASH complex (GO:0034993)	actin filament binding (GO:0051015)			breast(1)|endometrium(2)|lung(25)	28						CCACTCGATGCGGCTGTGGGC	0.622																																						ENST00000334258.5																			0				breast(1)|endometrium(2)|lung(25)	28						c.(319-321)cGc>cAc		spectrin repeat containing, nuclear envelope family member 3							37	41	40					14																	95932575		2202	4297	6499	SO:0001583	missense	161176							g.chr14:95932575C>T	AK098471	CCDS9935.1	14q32.13	2012-05-31	2012-05-31	2012-05-31	ENSG00000176438	ENSG00000176438			19861	protein-coding gene	gene with protein product		610861	"chromosome 14 open reading frame 49"	C14orf49			Standard	NM_152592		Approved	FLJ25605, NET53, Nesprin-3, Nesp3	uc001yei.4	Q6ZMZ3	OTTHUMG00000171632	ENST00000334258.5:c.320G>A	14.37:g.95932575C>T	ENSP00000334308:p.Arg107His					SYNE3_ENST00000557275.1_Missense_Mutation_p.R107H|SYNE3_ENST00000553340.1_Missense_Mutation_p.R107H	p.R107H	NM_152592.3	NP_689805.3					3	334	-								A6H8H3|Q86SX5|Q8N7G8	Missense_Mutation	SNP	ENST00000334258.5	37	c.320G>A	CCDS9935.1	.	.	.	.	.	.	.	.	.	.	c	24.3	4.514843	0.85389	.	.	ENSG00000176438	ENST00000334258;ENST00000557275;ENST00000553340	T;T;T	0.36340	1.26;1.26;1.26	4.12	4.12	0.48240	.	0.154975	0.26719	N	0.022848	T	0.56247	0.1972	M	0.68952	2.095	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.74674	0.984;0.973;0.964	T	0.54576	-0.8273	10	0.25106	T	0.35	-15.142	16.4126	0.83723	0.0:1.0:0.0:0.0	.	107;107;107	Q6ZMZ3-2;Q6ZMZ3-3;Q6ZMZ3	.;.;SYNE3_HUMAN	H	107	ENSP00000334308:R107H;ENSP00000450562:R107H;ENSP00000450774:R107H	ENSP00000334308:R107H	R	-	2	0	C14orf49	95002328	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	7.292000	0.78731	1.828000	0.53243	0.298000	0.19748	CGC		0.622	SYNE3-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000420529.2	NM_152592		3	87	0	0	0	0.150653	0	3	87					T	95932575	C	T	95932575	3	4	209	1	0	0	0	0	1	0	0	0	1776	768	27	1	2667	1	C14orf49	14	95932575	Missense_Mutation	SNP	C	TCGA-HC-7233-01A-11D-2114-08	75086732	95932575	11416965	40	9662											
RBL2	5934	broad.mit.edu	37	chr16	53485706	53485706	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tatggaaatgcacttcagtgTtctaatcgtaaagaacttgt	13	14	8	6	1	2	1	1	0	1	1	3	2	2	2	0	1	2	3	0	1	6	6			TCGA-HC-7233-01A-11D-2114-08	TCGA-HC-7233-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c9a5dbc-f7f3-43e7-83d1-77b9fb4b8b54	112415c3-8cea-4608-9f55-c5714ac77390	g.chr16:53485706T>C	ENST00000262133.6	+	5	866	c.729T>C	c.(727-729)tgT>tgC	p.C243C	RBL2_ENST00000544545.1_Silent_p.C27C|RP11-44F14.5_ENST00000565073.1_RNA|RBL2_ENST00000379935.4_3'UTR	NM_005611.3	NP_005602.3	Q08999	RBL2_HUMAN	retinoblastoma-like 2	243					chromatin modification (GO:0016568)|mitotic cell cycle (GO:0000278)|regulation of cell cycle (GO:0051726)|regulation of lipid kinase activity (GO:0043550)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						CACTTCAGTGTTCTAATCGTA	0.378																																						ENST00000262133.6																			0				breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						c.(727-729)tgT>tgC		retinoblastoma-like 2 (p130)							191	172	179					16																	53485706		2198	4300	6498	SO:0001819	synonymous_variant	5934				cell cycle|chromatin modification|regulation of cell cycle|regulation of lipid kinase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding	g.chr16:53485706T>C	X74594	CCDS10748.1	16q12.2	2014-03-11	2014-03-11		ENSG00000103479	ENSG00000103479			9894	protein-coding gene	gene with protein product		180203				8361765, 8643454	Standard	NM_005611		Approved	Rb2, p130	uc002ehi.4	Q08999	OTTHUMG00000133198	ENST00000262133.6:c.729T>C	16.37:g.53485706T>C						RBL2_ENST00000379935.4_3'UTR|RBL2_ENST00000544545.1_Silent_p.C27C	p.C243C	NM_005611.3	NP_005602.3	Q08999	RBL2_HUMAN			5	866	+			243					B7Z913|Q15073|Q16084|Q8NE70|Q92812	Silent	SNP	ENST00000262133.6	37	c.729T>C	CCDS10748.1																																																																																				0.378	RBL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256908.3	NM_005611		25	97	0	0	0	0.654019	0	25	97					C	53485706	T	C	53485706	2	2	209	1	0	0	0	0	0	0	0	1	13110	1731	60	4		4	RBL2	16	53485706	Silent	SNP	T	TCGA-HC-7233-01A-11D-2114-08		53485706	36869047	41	9663											
GAS2L2	246176	broad.mit.edu	37	chr17	34079565	34079565	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggaaggtacctggctgggcgGccccattgcaggagaccccg	7	5	16	13	2	0	1	0	0	0	1	0	3	0	2	5	6	2	3	5	6	2	2			TCGA-HC-7233-01A-11D-2114-08	TCGA-HC-7233-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c9a5dbc-f7f3-43e7-83d1-77b9fb4b8b54	112415c3-8cea-4608-9f55-c5714ac77390	g.chr17:34079565G>A	ENST00000254466.6	-	1	332	c.305C>T	c.(304-306)gCc>gTc	p.A102V	GAS2L2_ENST00000587565.1_Missense_Mutation_p.A102V	NM_139285.3	NP_644814.1	Q8NHY3	GA2L2_HUMAN	growth arrest-specific 2 like 2	102	CH. {ECO:0000255|PROSITE- ProRule:PRU00044}.				cell cycle arrest (GO:0007050)|microtubule bundle formation (GO:0001578)|negative regulation of microtubule depolymerization (GO:0007026)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	actin filament binding (GO:0051015)|cytoskeletal adaptor activity (GO:0008093)|microtubule binding (GO:0008017)			central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		TGGCTGGGCGGCCCCATTGCA	0.622																																						ENST00000254466.6																			0				central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						c.(304-306)gCc>gTc		growth arrest-specific 2 like 2							93	96	95					17																	34079565		2203	4300	6503	SO:0001583	missense	246176				cell cycle arrest	cytoplasm|cytoskeleton		g.chr17:34079565G>A	AF508784	CCDS11298.1	17q21	2014-05-06			ENSG00000132139	ENSG00000270765			24846	protein-coding gene	gene with protein product		611398				12584248	Standard	NM_139285		Approved	GAR17	uc002hjv.2	Q8NHY3	OTTHUMG00000188386	ENST00000254466.6:c.305C>T	17.37:g.34079565G>A	ENSP00000254466:p.Ala102Val					GAS2L2_ENST00000587565.1_Missense_Mutation_p.A102V	p.A102V	NM_139285.3	NP_644814.1	Q8NHY3	GA2L2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)	1	332	-		Ovarian(249;0.17)	102			CH.		Q8NHY4	Missense_Mutation	SNP	ENST00000254466.6	37	c.305C>T	CCDS11298.1	.	.	.	.	.	.	.	.	.	.	G	19.20	3.781053	0.70222	.	.	ENSG00000132139	ENST00000254466;ENST00000359507	T	0.18338	2.22	5.46	5.46	0.80206	Calponin homology domain (5);	0.217802	0.38272	N	0.001755	T	0.20981	0.0505	L	0.61218	1.895	0.35078	D	0.763118	P	0.37061	0.58	B	0.38655	0.278	T	0.16600	-1.0397	10	0.42905	T	0.14	-12.0011	11.8293	0.52285	0.0789:0.0:0.9211:0.0	.	102	Q8NHY3	GA2L2_HUMAN	V	102	ENSP00000254466:A102V	ENSP00000254466:A102V	A	-	2	0	GAS2L2	31103678	0.122000	0.22280	0.985000	0.45067	0.833000	0.47200	3.031000	0.49728	2.847000	0.97988	0.591000	0.81541	GCC		0.622	GAS2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256497.1	NM_139285		4	103	0	0	0	0.150653	0	4	103					A	34079565	G	A	34079565	3	1	209	1	0	0	0	0	1	0	0	0	6247	1203	42	3	2361	3	GAS2L2	17	34079565	Missense_Mutation	SNP	G	TCGA-HC-7233-01A-11D-2114-08		34079565	47115645	42	9664											
MYCBPAP	84073	broad.mit.edu	37	chr17	48601102	48601102	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ggtcaatctccacgcggtctCcctgacccaggacgtttttg	6	11	10	14	3	3	1	1	1	2	0	5	2	3	2	3	3	0	1	3	3	1	2			TCGA-HC-7233-01A-11D-2114-08	TCGA-HC-7233-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c9a5dbc-f7f3-43e7-83d1-77b9fb4b8b54	112415c3-8cea-4608-9f55-c5714ac77390	g.chr17:48601102C>T	ENST00000323776.5	+	12	1883	c.1721C>T	c.(1720-1722)tCc>tTc	p.S574F	MYCBPAP_ENST00000436259.2_Missense_Mutation_p.S537F	NM_032133.4	NP_115509.4			MYCBP associated protein											breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(8)|ovary(4)|pancreas(1)|skin(2)|urinary_tract(2)	31	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;1.23e-09)			CACGCGGTCTCCCTGACCCAG	0.522																																						ENST00000323776.5																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(8)|ovary(4)|pancreas(1)|skin(2)|urinary_tract(2)	31						c.(1720-1722)tCc>tTc		MYCBP associated protein							66	66	66					17																	48601102		2203	4300	6503	SO:0001583	missense	84073				cell differentiation|multicellular organismal development|spermatogenesis|synaptic transmission	cytoplasm|membrane	protein binding	g.chr17:48601102C>T	BC028393	CCDS32680.2	17q21.33	2004-02-19			ENSG00000136449	ENSG00000136449			19677	protein-coding gene	gene with protein product		609835				12151104	Standard	NM_032133		Approved	AMAP-1, DKFZp434N1415	uc010wmr.2	Q8TBZ2	OTTHUMG00000157184	ENST00000323776.5:c.1721C>T	17.37:g.48601102C>T	ENSP00000323184:p.Ser574Phe					MYCBPAP_ENST00000436259.2_Missense_Mutation_p.S537F	p.S574F	NM_032133.4	NP_115509.4	Q8TBZ2	MYBPP_HUMAN	BRCA - Breast invasive adenocarcinoma(22;1.23e-09)		12	1883	+	Breast(11;1.23e-18)		537						Missense_Mutation	SNP	ENST00000323776.5	37	c.1721C>T	CCDS32680.2	.	.	.	.	.	.	.	.	.	.	C	15.79	2.938495	0.52972	.	.	ENSG00000136449	ENST00000323776;ENST00000436259	T;T	0.45668	0.89;0.89	5.74	5.74	0.90152	.	0.170536	0.51477	D	0.000097	T	0.62575	0.2439	M	0.73962	2.25	0.41917	D	0.990496	D	0.76494	0.999	D	0.67548	0.952	T	0.66131	-0.6000	10	0.87932	D	0	-25.1144	13.1473	0.59470	0.0:0.9271:0.0:0.0729	.	537	Q8TBZ2	MYBPP_HUMAN	F	574;537	ENSP00000323184:S574F;ENSP00000397209:S537F	ENSP00000323184:S574F	S	+	2	0	MYCBPAP	45956101	1.000000	0.71417	0.998000	0.56505	0.183000	0.23260	4.367000	0.59498	2.717000	0.92951	0.655000	0.94253	TCC		0.522	MYCBPAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000347814.1	NM_032133		19	45	0	0	0	0.539581	0	19	45					T	48601102	C	T	48601102	3	4	209	1	0	0	0	0	1	0	0	0	10019	855	30	3	1767	3	MYCBPAP	17	48601102	Missense_Mutation	SNP	C	TCGA-HC-7233-01A-11D-2114-08	14521537	48601102	32594108	43	9665											
BRD4	23476	broad.mit.edu	37	chr19	15375515	15375515	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggggcagcgagggtggctcGtgaatggggtcaatggtggt	6	8	22	5	2	1	1	1	1	0	0	2	2	1	1	0	8	1	2	0	8	2	0	rs552649817		TCGA-HC-7233-01A-11D-2114-08	TCGA-HC-7233-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c9a5dbc-f7f3-43e7-83d1-77b9fb4b8b54	112415c3-8cea-4608-9f55-c5714ac77390	g.chr19:15375515G>T	ENST00000263377.2	-	6	1133	c.912C>A	c.(910-912)caC>caA	p.H304Q	BRD4_ENST00000602230.1_5'Flank|BRD4_ENST00000371835.4_Missense_Mutation_p.H304Q|BRD4_ENST00000360016.5_Missense_Mutation_p.H304Q	NM_058243.2	NP_490597.1	O60885	BRD4_HUMAN	bromodomain containing 4	304					cellular response to DNA damage stimulus (GO:0006974)|chromatin remodeling (GO:0006338)|chromosome segregation (GO:0007059)|histone H3-K14 acetylation (GO:0044154)|histone H4-K12 acetylation (GO:0043983)|inner cell mass cell proliferation (GO:0001833)|negative regulation of DNA damage checkpoint (GO:2000002)|positive regulation of DNA binding (GO:0043388)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of inflammatory response (GO:0050727)|regulation of phosphorylation of RNA polymerase II C-terminal domain (GO:1901407)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromosome (GO:0005694)|condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|positive transcription elongation factor complex b (GO:0008024)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(3;3.02e-24)|Epithelial(3;4.71e-20)|all cancers(3;2.26e-18)			AGGGTGGCTCGTGAATGGGGT	0.622			T	C15orf55	lethal midline carcinoma of young people						OREG0025319	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000263377.2				Dom	yes		19	19p13.1	23476	T	bromodomain containing 4			E	C15orf55		lethal midline carcinoma of young people		0				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	21						c.(910-912)caC>caA		bromodomain containing 4							67	69	69					19																	15375515		2203	4299	6502	SO:0001583	missense	23476				interspecies interaction between organisms|positive regulation of G2/M transition of mitotic cell cycle|positive regulation of transcription elongation from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle	condensed nuclear chromosome|cytoplasm	protein binding	g.chr19:15375515G>T	Y12059	CCDS12328.1, CCDS46004.1	19p13.12	2013-09-20	2002-01-14		ENSG00000141867	ENSG00000141867			13575	protein-coding gene	gene with protein product	"chromosome-associated protein"	608749	"bromodomain-containing 4"			10938129	Standard	NM_058243		Approved	HUNKI, MCAP, CAP, HUNK1	uc002nar.3	O60885	OTTHUMG00000183252	ENST00000263377.2:c.912C>A	19.37:g.15375515G>T	ENSP00000263377:p.His304Gln		OREG0025319	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	702	BRD4_ENST00000371835.4_Missense_Mutation_p.H304Q|BRD4_ENST00000360016.5_Missense_Mutation_p.H304Q	p.H304Q	NM_058243.2	NP_490597.1	O60885	BRD4_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;3.02e-24)|Epithelial(3;4.71e-20)|all cancers(3;2.26e-18)		6	1133	-			304					O60433|Q4G0X8|Q86YS8|Q96PD3	Missense_Mutation	SNP	ENST00000263377.2	37	c.912C>A	CCDS12328.1	.	.	.	.	.	.	.	.	.	.	G	12.71	2.019465	0.35606	.	.	ENSG00000141867	ENST00000263377;ENST00000371835;ENST00000360016	T;T;T	0.28255	1.62;3.34;3.32	5.45	-5.79	0.02354	.	0.000000	0.64402	D	0.000004	T	0.35219	0.0924	L	0.50919	1.6	0.29262	N	0.871296	D;D;P	0.63046	0.961;0.992;0.849	P;P;B	0.56216	0.579;0.794;0.292	T	0.37957	-0.9683	10	0.21014	T	0.42	-20.4072	16.6862	0.85309	0.3579:0.0:0.6421:0.0	.	304;304;304	Q4G0X8;O60885-2;O60885	.;.;BRD4_HUMAN	Q	304	ENSP00000263377:H304Q;ENSP00000360901:H304Q;ENSP00000353112:H304Q	ENSP00000263377:H304Q	H	-	3	2	BRD4	15236515	0.001000	0.12720	0.410000	0.26471	0.928000	0.56348	-0.594000	0.05733	-1.509000	0.01798	-0.251000	0.11542	CAC		0.622	BRD4-001	KNOWN	overlapping_uORF|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465800.3	NM_058243		4	97	1	0	0.00024832	0.150653	0.000270102	4	97					T	15375515	G	T	15375515	3	4	209	1	0	0	0	0	1	0	0	0	1504	1136	40	5	3251	5	BRD4	19	15375515	Missense_Mutation	SNP	G	TCGA-HC-7233-01A-11D-2114-08		15375515	43753468	44	9666											
SPTBN4	57731	broad.mit.edu	37	chr19	41007898	41007898	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tctttctaccactatttctcCaagatgaaggctctggctgt	8	15	7	11	0	4	2	0	1	4	1	5	2	4	2	2	2	1	2	2	2	4	4			TCGA-HC-7233-01A-11D-2114-08	TCGA-HC-7233-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c9a5dbc-f7f3-43e7-83d1-77b9fb4b8b54	112415c3-8cea-4608-9f55-c5714ac77390	g.chr19:41007898C>T	ENST00000352632.3	+	8	941	c.855C>T	c.(853-855)tcC>tcT	p.S285S	SPTBN4_ENST00000338932.3_Silent_p.S285S|SPTBN4_ENST00000595535.1_Silent_p.S285S|SPTBN4_ENST00000598249.1_Silent_p.S285S|SPTBN4_ENST00000344104.3_Silent_p.S285S			Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4	285					actin filament capping (GO:0051693)|adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cardiac conduction (GO:0061337)|central nervous system projection neuron axonogenesis (GO:0021952)|clustering of voltage-gated sodium channels (GO:0045162)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization to plasma membrane (GO:0090002)|fertilization (GO:0009566)|negative regulation of heart rate (GO:0010459)|positive regulation of multicellular organism growth (GO:0040018)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of sodium ion transport (GO:0002028)|sensory perception of sound (GO:0007605)|transmission of nerve impulse (GO:0019226)|vesicle-mediated transport (GO:0016192)	adherens junction (GO:0005912)|axon hillock (GO:0043203)|axon initial segment (GO:0043194)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|nuclear matrix (GO:0016363)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|PML body (GO:0016605)|spectrin (GO:0008091)	actin binding (GO:0003779)|ankyrin binding (GO:0030506)|phosphatase binding (GO:0019902)|phospholipid binding (GO:0005543)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			ACTATTTCTCCAAGATGAAGG	0.537																																						ENST00000352632.3																			0				breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73						c.(853-855)tcC>tcT		spectrin, beta, non-erythrocytic 4							135	133	134					19																	41007898		2203	4300	6503	SO:0001819	synonymous_variant	57731				actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport	cytosol|nuclear matrix|PML body|spectrin	actin binding|ankyrin binding|structural constituent of cytoskeleton	g.chr19:41007898C>T	AF082075	CCDS12559.1, CCDS42569.1	19q13.13	2013-01-10				ENSG00000160460		"Pleckstrin homology (PH) domain containing"	14896	protein-coding gene	gene with protein product		606214				11086001	Standard	NM_020971		Approved	SPTBN3, KIAA1642	uc002onz.3	Q9H254		ENST00000352632.3:c.855C>T	19.37:g.41007898C>T						SPTBN4_ENST00000338932.3_Silent_p.S285S|SPTBN4_ENST00000595535.1_Silent_p.S285S|SPTBN4_ENST00000598249.1_Silent_p.S285S|SPTBN4_ENST00000344104.3_Silent_p.S285S	p.S285S			Q9H254	SPTN4_HUMAN	Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)		8	941	+			285					E9PGQ5|Q9H1K7|Q9H1K8|Q9H1K9|Q9H253|Q9H3G8|Q9HCD0	Silent	SNP	ENST00000352632.3	37	c.855C>T	CCDS12559.1																																																																																				0.537	SPTBN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462559.2			4	128	0	0	0	0.150653	0	4	128					T	41007898	C	T	41007898	2	4	209	1	0	0	0	0	0	0	0	1	15120	581	21	3		3	SPTBN4	19	41007898	Silent	SNP	C	TCGA-HC-7233-01A-11D-2114-08	25632383	41007898	18121085	45	9667											
TMEM143	55260	broad.mit.edu	37	chr19	48848545	48848545	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctcctgctcattagacagacGctggggatccgttagtgatg	8	11	12	10	2	1	3	1	1	0	2	3	4	3	4	2	2	1	3	2	2	2	2	rs561229332		TCGA-HC-7233-01A-11D-2114-08	TCGA-HC-7233-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c9a5dbc-f7f3-43e7-83d1-77b9fb4b8b54	112415c3-8cea-4608-9f55-c5714ac77390	g.chr19:48848545G>A	ENST00000293261.3	-	4	752	c.436C>T	c.(436-438)Cgt>Tgt	p.R146C	TMEM143_ENST00000541566.1_Missense_Mutation_p.R36C|TMEM143_ENST00000436660.2_Intron|TMEM143_ENST00000377431.2_Intron|TMEM143_ENST00000435956.3_Missense_Mutation_p.R111C	NM_018273.2	NP_060743.2	Q96AN5	TM143_HUMAN	transmembrane protein 143	146					hematopoietic progenitor cell differentiation (GO:0002244)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)				endometrium(2)|kidney(1)|large_intestine(2)|lung(9)	14		all_epithelial(76;9.64e-05)|all_lung(116;0.000147)|Lung NSC(112;0.000251)|Prostate(7;0.0187)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000149)|all cancers(93;0.000198)|Epithelial(262;0.0151)|GBM - Glioblastoma multiforme(486;0.0157)		TTAGACAGACGCTGGGGATCC	0.582																																						ENST00000293261.3																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(9)	14						c.(436-438)Cgt>Tgt		transmembrane protein 143							130	128	129					19																	48848545		2203	4300	6503	SO:0001583	missense	55260					integral to membrane|mitochondrion		g.chr19:48848545G>A	AK129801	CCDS12716.1	19q13.32	2008-02-05				ENSG00000161558			25603	protein-coding gene	gene with protein product						12975309	Standard	NM_018273		Approved	FLJ10922	uc002pix.1	Q96AN5		ENST00000293261.3:c.436C>T	19.37:g.48848545G>A	ENSP00000293261:p.Arg146Cys					TMEM143_ENST00000541566.1_Missense_Mutation_p.R36C|TMEM143_ENST00000436660.2_Intron|TMEM143_ENST00000435956.3_Missense_Mutation_p.R111C|TMEM143_ENST00000377431.2_Intron	p.R146C	NM_018273.2	NP_060743.2	Q96AN5	TM143_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000149)|all cancers(93;0.000198)|Epithelial(262;0.0151)|GBM - Glioblastoma multiforme(486;0.0157)	4	752	-		all_epithelial(76;9.64e-05)|all_lung(116;0.000147)|Lung NSC(112;0.000251)|Prostate(7;0.0187)|all_neural(266;0.0506)|Ovarian(192;0.113)	146					A8K656|Q6UXY4|Q9NV49	Missense_Mutation	SNP	ENST00000293261.3	37	c.436C>T	CCDS12716.1	.	.	.	.	.	.	.	.	.	.	G	15.57	2.872207	0.51695	.	.	ENSG00000161558	ENST00000293261;ENST00000435956;ENST00000541566	T;T;T	0.54071	0.67;0.59;0.62	4.33	4.33	0.51752	.	0.303860	0.24200	N	0.040626	T	0.59142	0.2172	L	0.32530	0.975	0.80722	D	1	B;D	0.89917	0.146;1.0	B;D	0.73708	0.018;0.981	T	0.59423	-0.7457	10	0.49607	T	0.09	-7.086	11.2841	0.49212	0.0:0.0:0.8172:0.1827	.	111;146	B4DMT0;Q96AN5	.;TM143_HUMAN	C	146;111;36	ENSP00000293261:R146C;ENSP00000397038:R111C;ENSP00000444275:R36C	ENSP00000293261:R146C	R	-	1	0	TMEM143	53540357	1.000000	0.71417	1.000000	0.80357	0.308000	0.27856	2.398000	0.44486	2.135000	0.66039	0.305000	0.20034	CGT		0.582	TMEM143-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465622.1	NM_018273		8	200	0	0	0	0.38729	0	8	200					A	48848545	G	A	48848545	3	1	209	1	0	0	0	0	1	0	0	0	16054	1087	38	1	963	1	TMEM143	19	48848545	Missense_Mutation	SNP	G	TCGA-HC-7233-01A-11D-2114-08	7840647	48848545	10280438	46	9668											
ZSCAN1	284312	broad.mit.edu	37	chr19	58565071	58565071	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgaggtgggcggcccttccaGtgtgccgactgtgggatggt	4	9	18	10	3	0	0	0	0	0	0	1	3	1	1	3	5	1	0	3	5	0	1			TCGA-HC-7233-01A-11D-2114-08	TCGA-HC-7233-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c9a5dbc-f7f3-43e7-83d1-77b9fb4b8b54	112415c3-8cea-4608-9f55-c5714ac77390	g.chr19:58565071G>T	ENST00000282326.1	+	6	1126	c.879G>T	c.(877-879)caG>caT	p.Q293H		NM_182572.3	NP_872378.3	Q8NBB4	ZSCA1_HUMAN	zinc finger and SCAN domain containing 1	293					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|transcription coactivator activity (GO:0003713)			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)		GGCCCTTCCAGTGTGCCGACT	0.642																																						ENST00000282326.1																			0				NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						c.(877-879)caG>caT		zinc finger and SCAN domain containing 1							66	61	63					19																	58565071		2203	4300	6503	SO:0001583	missense	284312				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:58565071G>T	AK091098	CCDS12969.1	19q13.43	2013-06-13	2004-04-21		ENSG00000152467	ENSG00000152467		"-", "Zinc fingers, C2H2-type"	23712	protein-coding gene	gene with protein product			"zinc finger with SCAN domain 1"			12477932	Standard	NM_182572		Approved	FLJ33779, ZNF915	uc002qrc.1	Q8NBB4	OTTHUMG00000183381	ENST00000282326.1:c.879G>T	19.37:g.58565071G>T	ENSP00000282326:p.Gln293His						p.Q293H	NM_182572.3	NP_872378.3	Q8NBB4	ZSCA1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)	6	1126	+		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)	293					Q3B798|Q6WLH8|Q86WS8	Missense_Mutation	SNP	ENST00000282326.1	37	c.879G>T	CCDS12969.1	.	.	.	.	.	.	.	.	.	.	G	8.156	0.788381	0.16258	.	.	ENSG00000152467	ENST00000282326	T	0.29142	1.58	1.14	-0.0355	0.13892	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.10895	0.0266	N	0.08118	0	0.80722	D	1	P	0.42078	0.77	B	0.32090	0.14	T	0.11348	-1.0591	9	0.54805	T	0.06	.	4.9546	0.14033	0.2698:0.0:0.7302:0.0	.	293	Q8NBB4	ZSCA1_HUMAN	H	293	ENSP00000282326:Q293H	ENSP00000282326:Q293H	Q	+	3	2	ZSCAN1	63256883	0.025000	0.19082	0.008000	0.14137	0.048000	0.14542	-0.109000	0.10840	0.010000	0.14839	0.491000	0.48974	CAG		0.642	ZSCAN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466427.1	NM_182572		20	43	1	0	3.01185e-09	0.667858	3.52329e-09	20	43					T	58565071	G	T	58565071	3	4	209	1	0	0	0	0	1	0	0	0	18223	1020	36	5	893	5	ZSCAN1	19	58565071	Missense_Mutation	SNP	G	TCGA-HC-7233-01A-11D-2114-08	9716526	58565071	563912	47	9669											
SOX12	6666	broad.mit.edu	37	chr20	306756	306756	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gaagatcatggaccagtggcCcgacatgcacaacgccgaga	13	4	12	12	3	1	2	1	0	0	2	1	6	1	3	3	2	2	1	3	2	2	0			TCGA-HC-7233-01A-11D-2114-08	TCGA-HC-7233-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c9a5dbc-f7f3-43e7-83d1-77b9fb4b8b54	112415c3-8cea-4608-9f55-c5714ac77390	g.chr20:306756C>G	ENST00000342665.2	+	1	518	c.188C>G	c.(187-189)cCc>cGc	p.P63R	RP5-1103G7.4_ENST00000442637.1_RNA|RP5-1103G7.4_ENST00000414676.1_RNA|SOX12_ENST00000544632.1_Missense_Mutation_p.P63R	NM_006943.2	NP_008874.2	O15370	SOX12_HUMAN	SRY (sex determining region Y)-box 12	63					cell fate commitment (GO:0045165)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein-DNA complex assembly (GO:0065004)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|spinal cord development (GO:0021510)	nucleus (GO:0005634)|protein-DNA complex (GO:0032993)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II transcription coactivator activity (GO:0001105)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)	2		all_cancers(10;0.000331)|Lung NSC(37;0.0496)|all_lung(30;0.0831)|all_epithelial(17;0.0868)|Breast(17;0.231)	OV - Ovarian serous cystadenocarcinoma(29;0.149)			GACCAGTGGCCCGACATGCAC	0.662																																						ENST00000342665.2																			0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)	2						c.(187-189)cCc>cGc		SRY (sex determining region Y)-box 12							37	32	33					20																	306756		2203	4300	6503	SO:0001583	missense	6666				cell fate commitment|spinal cord development	nucleus	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|RNA polymerase II transcription coactivator activity|transcription regulatory region sequence-specific DNA binding	g.chr20:306756C>G	U35612	CCDS12995.1	20p13	2008-07-28	2002-07-22	2002-07-26	ENSG00000177732	ENSG00000177732		"SRY (sex determining region Y)-boxes"	11198	protein-coding gene	gene with protein product		601947	"SRY (sex determining region Y)-box 22"	SOX22		9215677	Standard	NM_006943		Approved		uc002wdh.4	O15370	OTTHUMG00000031623	ENST00000342665.2:c.188C>G	20.37:g.306756C>G	ENSP00000347646:p.Pro63Arg					SOX12_ENST00000544632.1_Missense_Mutation_p.P63R|RP5-1103G7.4_ENST00000442637.1_RNA	p.P63R	NM_006943.2	NP_008874.2	O15370	SOX12_HUMAN	OV - Ovarian serous cystadenocarcinoma(29;0.149)		1	518	+		all_cancers(10;0.000331)|Lung NSC(37;0.0496)|all_lung(30;0.0831)|all_epithelial(17;0.0868)|Breast(17;0.231)	63					Q5D038|Q9NUD4	Missense_Mutation	SNP	ENST00000342665.2	37	c.188C>G	CCDS12995.1	.	.	.	.	.	.	.	.	.	.	C	15.39	2.818960	0.50633	.	.	ENSG00000177732	ENST00000544632;ENST00000342665	D;D	0.99674	-6.36;-6.36	3.63	3.63	0.41609	High mobility group, superfamily (1);High mobility group, HMG1/HMG2 (4);	0.000000	0.52532	U	0.000078	D	0.99837	0.9926	H	0.99042	4.41	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.96585	0.9433	10	0.87932	D	0	.	12.8184	0.57679	0.0:1.0:0.0:0.0	.	63	O15370	SOX12_HUMAN	R	63	ENSP00000441671:P63R;ENSP00000347646:P63R	ENSP00000347646:P63R	P	+	2	0	SOX12	254756	1.000000	0.71417	1.000000	0.80357	0.361000	0.29550	6.920000	0.75799	1.858000	0.53909	0.313000	0.20887	CCC		0.662	SOX12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077435.2	NM_006943		7	20	0	0	0	0.361761	0	7	20					G	306756	C	G	306756	3	3	209	1	0	0	0	0	1	0	0	0	14943	623	22	5	190	5	SOX12	20	306756	Missense_Mutation	SNP	C	TCGA-HC-7233-01A-11D-2114-08		306756	62718764	48	9670											
TMEM189	387522	broad.mit.edu	37	chr20	48746131	48746131	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catgtttagcagcggcagcaGtgtcaccaggcagttgtccc	8	9	12	12	1	1	0	1	0	0	0	2	0	2	0	2	2	3	6	2	2	1	3			TCGA-HC-7233-01A-11D-2114-08	TCGA-HC-7233-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c9a5dbc-f7f3-43e7-83d1-77b9fb4b8b54	112415c3-8cea-4608-9f55-c5714ac77390	g.chr20:48746131G>C	ENST00000341698.2	-	4	429	c.430C>G	c.(430-432)Ctg>Gtg	p.L144V	TMEM189_ENST00000371652.4_Missense_Mutation_p.L144V|TMEM189_ENST00000557021.1_Missense_Mutation_p.L144V|TMEM189_ENST00000371656.2_Missense_Mutation_p.L69V|TMEM189_ENST00000371650.5_Missense_Mutation_p.L141V	NM_001257399.1	NP_001244328.1			TMEM189-UBE2V1 readthrough											breast(1)|endometrium(4)|large_intestine(6)|lung(6)	17			BRCA - Breast invasive adenocarcinoma(9;8.29e-07)			AGCGGCAGCAGTGTCACCAGG	0.627																																						ENST00000557021.1																			0				breast(1)|endometrium(2)|large_intestine(3)|lung(2)	8						c.(430-432)Ctg>Gtg		transmembrane protein 189							175	149	158					20																	48746131		2203	4300	6503	SO:0001583	missense	387521							g.chr20:48746131G>C	U39361	CCDS13424.1	20q13.13	2011-05-31			ENSG00000124208	ENSG00000124208			33521	other	readthrough						11076860	Standard	NM_199203		Approved	Kua-UEV, CROC-1B	uc002xvf.3		OTTHUMG00000033085	ENST00000341698.2:c.430C>G	20.37:g.48746131G>C	ENSP00000344166:p.Leu144Val					TMEM189_ENST00000371656.2_Missense_Mutation_p.L69V|TMEM189_ENST00000371652.4_Missense_Mutation_p.L144V|TMEM189-UBE2V1_ENST00000341698.2_Missense_Mutation_p.L144V|TMEM189_ENST00000371650.5_Missense_Mutation_p.L141V	p.L144V	NM_199203.2	NP_954673.1			BRCA - Breast invasive adenocarcinoma(9;3.02e-07)		4	590	-									Missense_Mutation	SNP	ENST00000341698.2	37	c.430C>G	CCDS13424.1	.	.	.	.	.	.	.	.	.	.	G	11.93	1.784414	0.31593	.	.	ENSG00000124208;ENSG00000240849;ENSG00000240849;ENSG00000240849;ENSG00000240849	ENST00000341698;ENST00000557021;ENST00000371650;ENST00000371656;ENST00000371652	T;T;T;T	0.52526	0.66;0.66;0.9;0.9	5.26	3.31	0.37934	Kua-ubiquitin conjugating enzyme hybrid, localisation (1);	.	.	.	.	T	0.27663	0.0680	N	0.13140	0.3	0.20638	N	0.99987	B;B;B;B	0.14438	0.005;0.01;0.01;0.002	B;B;B;B	0.29267	0.032;0.1;0.1;0.009	T	0.32481	-0.9905	9	0.08381	T	0.77	-5.0339	6.7916	0.23703	0.218:0.1344:0.6476:0.0	.	69;141;144;144	Q5TGE2;Q5TGE1;A5PLL7;G3V2F7	.;.;TM189_HUMAN;.	V	144;144;141;69;144	ENSP00000344166:L144V;ENSP00000450635:L144V;ENSP00000360713:L141V;ENSP00000360715:L144V	ENSP00000360713:L141V	L	-	1	2	TMEM189-UBE2V1;TMEM189	48179538	0.688000	0.27680	0.943000	0.38184	0.991000	0.79684	0.945000	0.29056	1.210000	0.43336	0.491000	0.48974	CTG		0.627	TMEM189-UBE2V1-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000080532.5			20	61	0	0	0	0.624587	0	20	61					C	48746131	G	C	48746131	3	2	209	1	0	0	0	0	1	0	0	0	16108	1020	36	5	394	5	TMEM189	20	48746131	Missense_Mutation	SNP	G	TCGA-HC-7233-01A-11D-2114-08	48439375	48746131	14279389	49	9671											
SLMO2	51012	broad.mit.edu	37	chr20	57613627	57613627	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acacatcaactccaaccacaCttgggttcatagggtttggg	11	10	9	11	0	2	0	2	0	0	0	3	0	3	0	2	3	2	2	2	3	3	4			TCGA-HC-7233-01A-11D-2114-08	TCGA-HC-7233-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c9a5dbc-f7f3-43e7-83d1-77b9fb4b8b54	112415c3-8cea-4608-9f55-c5714ac77390	g.chr20:57613627C>G	ENST00000355937.4	-	2	273	c.95G>C	c.(94-96)aGt>aCt	p.S32T	SLMO2_ENST00000371033.5_Missense_Mutation_p.S32T	NM_016045.2	NP_057129.2	Q9Y3B1	SLMO2_HUMAN	slowmo homolog 2 (Drosophila)	32	PRELI/MSF1. {ECO:0000255|PROSITE- ProRule:PRU00158}.				phospholipid transport (GO:0015914)	mitochondrial intermembrane space (GO:0005758)	phosphatidic acid transporter activity (GO:1990050)			endometrium(1)|lung(2)|skin(2)	5	all_lung(29;0.00711)		Colorectal(105;0.109)			TCCAACCACACTTGGGTTCAT	0.453																																						ENST00000355937.4																			0				endometrium(1)|lung(2)|skin(2)	5						c.(94-96)aGt>aCt		slowmo homolog 2 (Drosophila)							123	119	120					20																	57613627		1929	4128	6057	SO:0001583	missense	51012							g.chr20:57613627C>G	AF151865	CCDS42893.1, CCDS58783.1	20q13.32	2008-10-22	2007-02-06	2007-02-06	ENSG00000101166	ENSG00000101166			15892	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 45"	C20orf45			Standard	NM_016045		Approved	dJ543J19.5, PRELID3B	uc002yam.3	Q9Y3B1	OTTHUMG00000032856	ENST00000355937.4:c.95G>C	20.37:g.57613627C>G	ENSP00000348206:p.Ser32Thr					SLMO2_ENST00000371033.5_Missense_Mutation_p.S32T	p.S32T	NM_016045.2	NP_057129.2	Q9Y3B1	SLMO2_HUMAN	Colorectal(105;0.109)		2	273	-	all_lung(29;0.00711)		32			PRELI/MSF1.		E1P5I8|Q5JX17|Q9NUL0	Missense_Mutation	SNP	ENST00000355937.4	37	c.95G>C	CCDS42893.1	.	.	.	.	.	.	.	.	.	.	C	17.36	3.370895	0.61624	.	.	ENSG00000101166	ENST00000355937;ENST00000371033	T;T	0.18016	2.24;2.24	5.36	4.42	0.53409	PRELI/MSF1 (2);	0.084915	0.85682	D	0.000000	T	0.23492	0.0568	M	0.77486	2.375	0.58432	D	0.999997	P;B	0.39717	0.684;0.122	B;B	0.38378	0.272;0.099	T	0.04268	-1.0964	10	0.35671	T	0.21	-9.2693	13.5156	0.61539	0.0:0.9245:0.0:0.0755	.	32;32	Q5JX17;Q9Y3B1	.;SLMO2_HUMAN	T	32	ENSP00000348206:S32T;ENSP00000360072:S32T	ENSP00000348206:S32T	S	-	2	0	SLMO2	57047022	0.994000	0.37717	0.782000	0.31804	0.988000	0.76386	3.741000	0.55090	1.399000	0.46721	0.655000	0.94253	AGT		0.453	SLMO2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079897.2	NM_016045		4	199	0	0	0	0.150653	0	4	199					G	57613627	C	G	57613627	3	3	209	1	0	0	0	0	1	0	0	0	14751	565	20	5	509	5	SLMO2	20	57613627	Missense_Mutation	SNP	C	TCGA-HC-7233-01A-11D-2114-08	8867496	57613627	5411893	50	9672											
SRRD	402055	broad.mit.edu	37	chr22	26884138	26884138	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	attctatcccaagagagatcTtggtcacaggaacctgccat	12	10	8	11	0	3	2	1	0	2	2	4	4	4	3	3	2	2	0	3	2	3	3			TCGA-HC-7233-01A-11D-2114-08	TCGA-HC-7233-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c9a5dbc-f7f3-43e7-83d1-77b9fb4b8b54	112415c3-8cea-4608-9f55-c5714ac77390	g.chr22:26884138T>C	ENST00000215917.7	+	3	408	c.394T>C	c.(394-396)Ttg>Ctg	p.L132L		NM_001013694.2	NP_001013716.2	Q9UH36	SRR1L_HUMAN	SRR1 domain containing	132					rhythmic process (GO:0048511)					endometrium(1)|large_intestine(1)|lung(1)|prostate(1)	4						AAGAGAGATCTTGGTCACAGG	0.488																																						ENST00000215917.6																			0				endometrium(1)|large_intestine(1)|lung(1)|prostate(1)	4						c.(394-396)Ttg>Ctg		SRR1 domain containing							127	126	126					22																	26884138		2012	4198	6210	SO:0001819	synonymous_variant	402055				rhythmic process			g.chr22:26884138T>C	BC066962	CCDS42995.1	22q12.1	2008-10-31			ENSG00000100104	ENSG00000100104			33910	protein-coding gene	gene with protein product	"hepatocellular carcinoma complicating hemochromatosis"	602254					Standard	NM_001013694		Approved	HC/HCC, SRR1L	uc010gve.3	Q9UH36	OTTHUMG00000150885	ENST00000215917.7:c.394T>C	22.37:g.26884138T>C							p.L132L	NM_001013694.2	NP_001013716.2	Q9UH36	SRR1L_HUMAN			3	408	+			132					Q6NXP8	Silent	SNP	ENST00000215917.7	37	c.394T>C	CCDS42995.1																																																																																				0.488	SRRD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320423.2	NM_001013694		15	51	0	0	0	0.457914	0	15	51					C	26884138	T	C	26884138	2	2	209	1	0	0	0	0	0	0	0	1	15166	1606	56	4		4	SRRD	22	26884138	Silent	SNP	T	TCGA-HC-7233-01A-11D-2114-08		26884138	24420428	51	9673											
MAOA	4128	broad.mit.edu	37	chrX	43571169	43571169	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaccagtatggaatcccatTgcatatttggattacaataa	14	12	6	9	0	0	0	0	0	0	0	1	2	1	2	3	2	2	2	3	2	6	6			TCGA-HC-7233-01A-11D-2114-08	TCGA-HC-7233-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c9a5dbc-f7f3-43e7-83d1-77b9fb4b8b54	112415c3-8cea-4608-9f55-c5714ac77390	g.chrX:43571169T>A	ENST00000338702.3	+	4	480	c.357T>A	c.(355-357)atT>atA	p.I119I	MAOA_ENST00000542639.1_5'UTR|MAOA_ENST00000497485.1_3'UTR	NM_000240.3	NP_000231.1	P21397	AOFA_HUMAN	monoamine oxidase A	119					cellular biogenic amine metabolic process (GO:0006576)|dopamine catabolic process (GO:0042420)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter catabolic process (GO:0042135)|neurotransmitter secretion (GO:0007269)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|xenobiotic metabolic process (GO:0006805)	integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	primary amine oxidase activity (GO:0008131)			NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	18					Almotriptan(DB00918)|Dopamine(DB00988)|Ephedra(DB01363)|Flavin adenine dinucleotide(DB03147)|Furazolidone(DB00614)|Isocarboxazid(DB01247)|Linezolid(DB00601)|Methamphetamine(DB01577)|Minaprine(DB00805)|Moclobemide(DB01171)|Nandrolone decanoate(DB08804)|Naratriptan(DB00952)|Nicotine(DB00184)|Pargyline(DB01626)|Phenelzine(DB00780)|Phentermine(DB00191)|Phenylephrine(DB00388)|Phenylpropanolamine(DB00397)|Procaine(DB00721)|Pseudoephedrine(DB00852)|Riboflavin(DB00140)|Rizatriptan(DB00953)|Selegiline(DB01037)|Sertraline(DB01104)|Sumatriptan(DB00669)|Testosterone(DB00624)|Tranylcypromine(DB00752)|Zolmitriptan(DB00315)|Zonisamide(DB00909)	GGAATCCCATTGCATATTTGG	0.368																																						ENST00000338702.3																			0				NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	18						c.(355-357)atT>atA		monoamine oxidase A	Almotriptan(DB00918)|Carbidopa(DB00190)|Clonazepam(DB01068)|Dopamine(DB00988)|Fluvoxamine(DB00176)|Ginkgo biloba(DB01381)|Imipramine(DB00458)|Isocarboxazid(DB01247)|Levodopa(DB01235)|Linezolid(DB00601)|Lorazepam(DB00186)|Moclobemide(DB01171)|Nicotine(DB00184)|Norepinephrine(DB00368)|Phenelzine(DB00780)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Phenylephrine(DB00388)|Phenylpropanolamine(DB00397)|Pseudoephedrine(DB00852)|Rasagiline(DB01367)|Riboflavin(DB00140)|Rizatriptan(DB00953)|Selegiline(DB01037)|Sumatriptan(DB00669)|Testosterone(DB00624)|Tranylcypromine(DB00752)|Zolmitriptan(DB00315)						150	138	142					X																	43571169		2203	4300	6503	SO:0001819	synonymous_variant	4128				behavior|neurotransmitter biosynthetic process|neurotransmitter catabolic process|neurotransmitter secretion|xenobiotic metabolic process	integral to membrane|mitochondrial outer membrane	primary amine oxidase activity|protein binding	g.chrX:43571169T>A		CCDS14260.1, CCDS59163.1	Xp11.4-p11.3	2008-02-05			ENSG00000189221	ENSG00000189221	1.4.3.4		6833	protein-coding gene	gene with protein product		309850					Standard	NM_000240		Approved		uc004dfy.4	P21397	OTTHUMG00000021387	ENST00000338702.3:c.357T>A	X.37:g.43571169T>A						MAOA_ENST00000542639.1_5'UTR|MAOA_ENST00000497485.1_3'UTR	p.I119I	NM_000240.3	NP_000231.1	P21397	AOFA_HUMAN			4	480	+			119					B4DF46|Q16426	Silent	SNP	ENST00000338702.3	37	c.357T>A	CCDS14260.1																																																																																				0.368	MAOA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056300.1	NM_000240		7	91	0	0	0	0.307466	0	7	91					A	43571169	T	A	43571169	2	1	209	1	0	0	0	0	0	0	0	1	9225	1800	63	5		5	MAOA	23	43571169	Silent	SNP	T	TCGA-HC-7233-01A-11D-2114-08		43571169	111699391	52	9674											
KLHDC7A	127707	broad.mit.edu	37	chr1	18809360	18809360	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cgttcgccctggcgcacacgGccacggtgcgtgccaaggaa	7	5	14	15	6	0	0	0	0	0	0	1	1	0	1	3	4	2	2	3	4	2	1	rs561721203		TCGA-HC-7736-01A-11D-2114-08	TCGA-HC-7736-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a89d72e-a967-40b5-a8eb-0d4ccd8615ce	ecc4491e-2c9a-4a6e-90a1-a0251fcf69aa	g.chr1:18809360G>A	ENST00000400664.1	+	1	1937	c.1885G>A	c.(1885-1887)Gcc>Acc	p.A629T		NM_152375.2	NP_689588.2	Q5VTJ3	KLD7A_HUMAN	kelch domain containing 7A	629						integral component of membrane (GO:0016021)				endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	22		Colorectal(325;3.46e-05)|all_lung(284;0.000152)|Lung NSC(340;0.000185)|Breast(348;0.00046)|Renal(390;0.000518)|Ovarian(437;0.0014)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.41e-05)|Kidney(64;0.00017)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		GGCGCACACGGCCACGGTGCG	0.692													G|||	1	0.000199681	0	0	5008	,	,		14328	0.001		0	False		,,,				2504	0					ENST00000400664.1																			0				endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	22						c.(1885-1887)Gcc>Acc		kelch domain containing 7A							23	24	24					1																	18809360		2201	4294	6495	SO:0001583	missense	127707					integral to membrane		g.chr1:18809360G>A	AK096072	CCDS185.2	1p36.13	2008-02-05			ENSG00000179023	ENSG00000179023			26791	protein-coding gene	gene with protein product							Standard	NM_152375		Approved	FLJ38753	uc001bax.3	Q5VTJ3	OTTHUMG00000002431	ENST00000400664.1:c.1885G>A	1.37:g.18809360G>A	ENSP00000383505:p.Ala629Thr						p.A629T	NM_152375.2	NP_689588.2	Q5VTJ3	KLD7A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.41e-05)|Kidney(64;0.00017)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	1	1937	+		Colorectal(325;3.46e-05)|all_lung(284;0.000152)|Lung NSC(340;0.000185)|Breast(348;0.00046)|Renal(390;0.000518)|Ovarian(437;0.0014)|Myeloproliferative disorder(586;0.0255)	629					Q8N8W6	Missense_Mutation	SNP	ENST00000400664.1	37	c.1885G>A	CCDS185.2	.	.	.	.	.	.	.	.	.	.	G	27.5	4.840772	0.91197	.	.	ENSG00000179023	ENST00000400664;ENST00000540290	T	0.69926	-0.44	4.85	4.85	0.62838	Kelch-type beta propeller (1);	0.066842	0.64402	D	0.000015	D	0.82416	0.5032	M	0.79926	2.475	0.45227	D	0.998237	D;D	0.89917	1.0;1.0	D;D	0.80764	0.994;0.994	D	0.85511	0.1197	10	0.87932	D	0	.	16.531	0.84359	0.0:0.0:1.0:0.0	.	566;629	A7E2V3;Q5VTJ3	.;KLD7A_HUMAN	T	629;566	ENSP00000383505:A629T	ENSP00000383505:A629T	A	+	1	0	KLHDC7A	18681947	1.000000	0.71417	0.995000	0.50966	0.799000	0.45148	9.759000	0.98931	2.233000	0.73108	0.561000	0.74099	GCC		0.692	KLHDC7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006923.3	NM_152375		11	25	0	0	0	0.361761	0	11	25					A	18809360	G	A	18809360	3	1	210	1	0	0	0	0	1	0	0	0	8360	1203	42	3	1887	3	KLHDC7A	1	18809360	Missense_Mutation	SNP	G	TCGA-HC-7736-01A-11D-2114-08		18809360	230441261	1	9675											
DOCK7	85440	broad.mit.edu	37	chr1	63099200	63099216	+	Frame_Shift_Del	DEL	TATGGTTCTGCACACTC	TATGGTTCTGCACACTC	-																															ctgcttctttgaaaatcataTatggttctgcacactctcca																										TCGA-HC-7736-01A-11D-2114-08	TCGA-HC-7736-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a89d72e-a967-40b5-a8eb-0d4ccd8615ce	ecc4491e-2c9a-4a6e-90a1-a0251fcf69aa	g.chr1:63099200_63099216delTATGGTTCTGCACACTC	ENST00000340370.5	-	10	1086_1102	c.1069_1085delGAGTGTGCAGAACCATA	c.(1069-1086)gagtgtgcagaaccatatfs	p.ECAEPY357fs	DOCK7_ENST00000251157.5_Frame_Shift_Del_p.ECAEPY357fs|DOCK7_ENST00000404627.2_Frame_Shift_Del_p.ECAEPY357fs	NM_033407.2	NP_212132.2	Q96N67	DOCK7_HUMAN	dedicator of cytokinesis 7	357					activation of Rac GTPase activity (GO:0032863)|axonogenesis (GO:0007409)|establishment of neuroblast polarity (GO:0045200)|hematopoietic progenitor cell differentiation (GO:0002244)|interkinetic nuclear migration (GO:0022027)|microtubule cytoskeleton organization (GO:0000226)|neuron projection development (GO:0031175)|pigmentation (GO:0043473)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of neurogenesis (GO:0050767)|small GTPase mediated signal transduction (GO:0007264)	axon (GO:0030424)|basal part of cell (GO:0045178)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|neuron projection (GO:0043005)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rac GTPase binding (GO:0048365)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(19)|lung(42)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	92						GAAAATCATATATGGTTCTGCACACTCTCCAATGTCT	0.364																																						ENST00000251157.5																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(19)|lung(42)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	92						c.(1069-1086)tfs		dedicator of cytokinesis 7																																				SO:0001589	frameshift_variant	85440				activation of Rac GTPase activity|axonogenesis|establishment of neuroblast polarity|microtubule cytoskeleton organization|positive regulation of peptidyl-serine phosphorylation	axon|basal part of cell|growth cone	GTP binding|guanyl-nucleotide exchange factor activity|Rac GTPase binding	g.chr1:63099200_63099216delTATGGTTCTGCACACTC		CCDS30734.1, CCDS60156.1, CCDS60157.1	1p32.1	2008-02-05			ENSG00000116641	ENSG00000116641			19190	protein-coding gene	gene with protein product		615730				12432077	Standard	NM_033407		Approved	KIAA1771, ZIR2	uc001daq.4	Q96N67	OTTHUMG00000013131	ENST00000340370.5:c.1069_1085delGAGTGTGCAGAACCATA	1.37:g.63099200_63099216delTATGGTTCTGCACACTC	ENSP00000340742:p.Glu357fs					DOCK7_ENST00000404627.2_Frame_Shift_Del_p.ECAEPY357fs|DOCK7_ENST00000340370.5_Frame_Shift_Del_p.ECAEPY357fs	p.ECAEPY357fs	NM_001271999.1	NP_001258928.1	Q96N67	DOCK7_HUMAN			10	1102_1118	-			357					Q00M63|Q2PPY7|Q45RE8|Q45RE9|Q5T1B9|Q5T1C0|Q6ZV32|Q8TB82|Q96NG6|Q96NI0|Q9C092	Frame_Shift_Del	DEL	ENST00000340370.5	37	c.1069_1085delGAGTGTGCAGAACCATA	CCDS30734.1																																																																																				0.364	DOCK7-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036806.1	NM_033407		13	186						13	186	---	---	---	---	-	63099216	TATGGTTCTGCACACTC	-	63099200	7	5	210	1	0	1	0	1	0	0	0	0	4692	1406	49	0	5404	0	DOCK7	1	63099200	Frame_Shift_Del	DEL	TATGGTTCTGCACACTC	TCGA-HC-7736-01A-11D-2114-08	44289840	63099200	186151421	2	9676											
ITLN1	55600	broad.mit.edu	37	chr1	160849127	160849127	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtgttacatccggtgacccTcattccagcacacaaggcgt	10	9	9	13	2	1	1	1	1	0	0	3	1	3	1	3	2	2	2	3	2	2	2			TCGA-HC-7736-01A-11D-2114-08	TCGA-HC-7736-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a89d72e-a967-40b5-a8eb-0d4ccd8615ce	ecc4491e-2c9a-4a6e-90a1-a0251fcf69aa	g.chr1:160849127T>C	ENST00000326245.3	-	7	878	c.763A>G	c.(763-765)Agg>Ggg	p.R255G	ITLN1_ENST00000487531.1_5'UTR	NM_017625.2	NP_060095.2	Q8WWA0	ITLN1_HUMAN	intelectin 1 (galactofuranose binding)	255	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				positive regulation of glucose import (GO:0046326)|positive regulation of protein phosphorylation (GO:0001934)|response to nematode (GO:0009624)	anchored component of membrane (GO:0031225)|brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|membrane raft (GO:0045121)|receptor complex (GO:0043235)	carbohydrate binding (GO:0030246)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	21	all_cancers(52;2.99e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			CCGGTGACCCTCATTCCAGCA	0.502																																						ENST00000326245.3																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	21						c.(763-765)Agg>Ggg		intelectin 1 (galactofuranose binding)							177	142	154					1																	160849127		2203	4300	6503	SO:0001583	missense	55600				positive regulation of glucose import|positive regulation of protein phosphorylation|response to nematode|signal transduction	anchored to membrane|brush border membrane|extracellular region|membrane raft	receptor binding|sugar binding	g.chr1:160849127T>C	AB036706	CCDS1211.1	1q21.3	2008-02-05			ENSG00000179914	ENSG00000179914			18259	protein-coding gene	gene with protein product		609873				11313366, 11181563	Standard	NM_017625		Approved	ITLN, FLJ20022, LFR, HL-1, hIntL	uc001fxc.3	Q8WWA0	OTTHUMG00000028604	ENST00000326245.3:c.763A>G	1.37:g.160849127T>C	ENSP00000323587:p.Arg255Gly					ITLN1_ENST00000487531.1_5'UTR	p.R255G	NM_017625.2	NP_060095.2	Q8WWA0	ITLN1_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00737)		7	878	-	all_cancers(52;2.99e-17)|all_hematologic(112;0.093)		255			Fibrinogen C-terminal.		Q5IWS4|Q5VYI4|Q6YDJ3|Q9NP67	Missense_Mutation	SNP	ENST00000326245.3	37	c.763A>G	CCDS1211.1	.	.	.	.	.	.	.	.	.	.	T	12.63	1.996172	0.35226	.	.	ENSG00000179914	ENST00000326245	T	0.17691	2.26	3.96	2.75	0.32379	.	0.395319	0.20949	N	0.082792	T	0.16300	0.0392	M	0.80616	2.505	0.09310	N	1	P	0.43633	0.813	P	0.48227	0.571	T	0.01874	-1.1256	10	0.87932	D	0	-3.5194	8.7386	0.34543	0.0:0.0:0.1899:0.8101	.	255	Q8WWA0	ITLN1_HUMAN	G	255	ENSP00000323587:R255G	ENSP00000323587:R255G	R	-	1	2	ITLN1	159115751	0.085000	0.21516	0.020000	0.16555	0.641000	0.38312	3.234000	0.51320	1.640000	0.50565	0.533000	0.62120	AGG		0.502	ITLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071462.1	NM_017625		3	129	0	0	0	0.150653	0	3	129					C	160849127	T	C	160849127	3	2	210	1	0	0	0	0	1	0	0	0	7910	1550	54	4	186	4	ITLN1	1	160849127	Missense_Mutation	SNP	T	TCGA-HC-7736-01A-11D-2114-08	97749927	160849127	88401494	3	9677											
C1orf95	375057	broad.mit.edu	37	chr1	226736634	226736636	+	In_Frame_Del	DEL	CGG	CGG	-																															ctcgcacaaagacgccgagaCggcggcggcggcggcggcgg																								rs546139392	byFrequency	TCGA-HC-7736-01A-11D-2114-08	TCGA-HC-7736-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a89d72e-a967-40b5-a8eb-0d4ccd8615ce	ecc4491e-2c9a-4a6e-90a1-a0251fcf69aa	g.chr1:226736634_226736636delCGG	ENST00000366788.3	+	1	134_136	c.29_31delCGG	c.(28-33)acggcg>acg	p.A16del	C1orf95_ENST00000366789.4_In_Frame_Del_p.A16del	NM_001003665.3	NP_001003665.1	Q69YW2	STUM_HUMAN	chromosome 1 open reading frame 95	16						integral component of membrane (GO:0016021)				large_intestine(1)|lung(4)|ovary(3)	8	Breast(184;0.133)	Prostate(94;0.0885)		GBM - Glioblastoma multiforme(131;0.113)		GACGCCGAGAcggcggcggcggc	0.783																																						ENST00000366788.3																			0				large_intestine(1)|lung(4)|ovary(3)	8						c.(28-33)acg>a		chromosome 1 open reading frame 95				8,298		3,2,148						3	1			2	59,1425		26,7,709	no	coding	C1orf95	NM_001003665.3		29,9,857	A1A1,A1R,RR		3.9757,2.6144,3.743				67,1723				SO:0001651	inframe_deletion	375057					integral to membrane		g.chr1:226736634_226736636delCGG	AF035308	CCDS31044.1	1q42.12	2012-06-26			ENSG00000203685	ENSG00000203685			30491	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_001003665		Approved	DKFZp761P211	uc021pjw.1	Q69YW2	OTTHUMG00000037583	ENST00000366788.3:c.29_31delCGG	1.37:g.226736643_226736645delCGG	ENSP00000355752:p.Ala16del					C1orf95_ENST00000366789.4_In_Frame_Del_p.TA10del	p.TA10del	NM_001003665.3	NP_001003665.1	Q69YW2	CA095_HUMAN		GBM - Glioblastoma multiforme(131;0.113)	1	134_136	+	Breast(184;0.133)	Prostate(94;0.0885)	10					A6NGL2	In_Frame_Del	DEL	ENST00000366788.3	37	c.29_31delCGG	CCDS31044.1																																																																																				0.783	C1orf95-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000091634.1	NM_001003665		4	6						4	6	---	---	---	---	-	226736636	CGG	-	226736634	7	5	210	1	0	1	0	1	0	0	0	0	2072	536	19	0	31	0	C1orf95	1	226736634	In_Frame_Del	DEL	CGG	TCGA-HC-7736-01A-11D-2114-08	65887507	226736634	22513987	4	9678											
ETAA1	54465	broad.mit.edu	37	chr2	67631946	67631946	+	Frame_Shift_Del	DEL	A	A	-																															atctttgacaaatagctcacAaatagataagccaatgaaga																										TCGA-HC-7736-01A-11D-2114-08	TCGA-HC-7736-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a89d72e-a967-40b5-a8eb-0d4ccd8615ce	ecc4491e-2c9a-4a6e-90a1-a0251fcf69aa	g.chr2:67631946delA	ENST00000272342.5	+	5	2262	c.2132delA	c.(2131-2133)caafs	p.Q711fs	ETAA1_ENST00000462772.1_Intron	NM_019002.3	NP_061875.2	Q9NY74	ETAA1_HUMAN	Ewing tumor-associated antigen 1	711						cytoplasm (GO:0005737)				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(3)|prostate(1)|stomach(3)|urinary_tract(1)	33						AATAGCTCACAAATAGATAAG	0.348																																						ENST00000272342.5																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(3)|prostate(1)|stomach(3)|urinary_tract(1)	33						c.(2131-2133)cafs		Ewing tumor-associated antigen 1							72	74	73					2																	67631946		2201	4300	6501	SO:0001589	frameshift_variant	54465					cytoplasm|nucleus		g.chr2:67631946delA	AJ242682	CCDS1882.1	2p14	2014-02-12	2007-10-04		ENSG00000143971	ENSG00000143971			24648	protein-coding gene	gene with protein product		613196	"Ewing's tumor-associated antigen 1"			16003559	Standard	XM_005264374		Approved	ETAA16	uc002sdz.1	Q9NY74	OTTHUMG00000129545	ENST00000272342.5:c.2132delA	2.37:g.67631946delA	ENSP00000272342:p.Gln711fs					ETAA1_ENST00000462772.1_Intron	p.Q711fs	NM_019002.3	NP_061875.2	Q9NY74	ETAA1_HUMAN			5	2262	+			711					Q05BT7|Q53SC4	Frame_Shift_Del	DEL	ENST00000272342.5	37	c.2132delA	CCDS1882.1																																																																																				0.348	ETAA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251735.1	NM_019002		16	86						16	86	---	---	---	---	-	67631946	A	-	67631946	7	5	210	1	0	1	0	1	0	0	0	0	5267	130	5	0	2150	0	ETAA1	2	67631946	Frame_Shift_Del	DEL	A	TCGA-HC-7736-01A-11D-2114-08		67631946	175567427	5	9679											
DQX1	165545	broad.mit.edu	37	chr2	74750442	74750442	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctctctctcactcacacttcGgagctccagtcctgagtcga	7	11	7	16	2	3	1	2	1	2	0	9	3	5	2	2	1	1	1	2	1	0	1			TCGA-HC-7736-01A-11D-2114-08	TCGA-HC-7736-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a89d72e-a967-40b5-a8eb-0d4ccd8615ce	ecc4491e-2c9a-4a6e-90a1-a0251fcf69aa	g.chr2:74750442G>T	ENST00000404568.3	-	5	1258	c.1039C>A	c.(1039-1041)Cga>Aga	p.R347R	DQX1_ENST00000495597.1_5'Flank|DQX1_ENST00000393951.2_Silent_p.R347R	NM_133637.2	NP_598376.2	Q8TE96	DQX1_HUMAN	DEAQ box RNA-dependent ATPase 1	347	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.					nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)	p.R229R(1)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(1)	18						CTCACACTTCGGAGCTCCAGT	0.547																																						ENST00000404568.3																			1	Substitution - coding silent(1)	p.R229R(1)	lung(1)	cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(1)	18						c.(1039-1041)Cga>Aga		DEAQ box RNA-dependent ATPase 1							145	135	138					2																	74750442		2203	4300	6503	SO:0001819	synonymous_variant	165545					nucleus	ATP binding|helicase activity|nucleic acid binding	g.chr2:74750442G>T	AK074337	CCDS1949.2	2p12	2010-04-20	2009-01-15		ENSG00000144045	ENSG00000144045			20410	protein-coding gene	gene with protein product			"DEAQ box polypeptide 1 (RNA-dependent ATPase)"				Standard	NM_133637		Approved	FLJ23757	uc010yrw.2	Q8TE96	OTTHUMG00000129965	ENST00000404568.3:c.1039C>A	2.37:g.74750442G>T						DQX1_ENST00000393951.2_Silent_p.R347R	p.R347R	NM_133637.2	NP_598376.2	Q8TE96	DQX1_HUMAN			5	1258	-			347			Helicase C-terminal.		Q6B017|Q8NAM8	Silent	SNP	ENST00000404568.3	37	c.1039C>A	CCDS1949.2																																																																																				0.547	DQX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252230.3	NM_133637		4	216	1	0	0.150653	0.150653	0.167871	4	216					T	74750442	G	T	74750442	2	4	210	1	0	0	0	0	0	0	0	1	4751	1124	39	5		5	DQX1	2	74750442	Silent	SNP	G	TCGA-HC-7736-01A-11D-2114-08	7118496	74750442	168448931	6	9680											
CHL1	10752	broad.mit.edu	37	chr3	439982	439982	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aatagaggtatttgagccggGagctgaacatatagttcgcc	12	10	12	7	2	0	3	0	2	0	1	1	4	0	4	2	2	3	3	2	2	6	6			TCGA-HC-7736-01A-11D-2114-08	TCGA-HC-7736-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a89d72e-a967-40b5-a8eb-0d4ccd8615ce	ecc4491e-2c9a-4a6e-90a1-a0251fcf69aa	g.chr3:439982G>T	ENST00000256509.2	+	25	3809	c.3167G>T	c.(3166-3168)gGa>gTa	p.G1056V	CHL1_ENST00000397491.2_Missense_Mutation_p.G1040V	NM_001253387.1|NM_001253388.1|NM_006614.3	NP_001240316.1|NP_001240317.1|NP_006605.2	Q96FC9	DDX11_HUMAN	cell adhesion molecule L1-like	0					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|ATP catabolic process (GO:0006200)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|sister chromatid cohesion (GO:0007062)|viral process (GO:0016032)	midbody (GO:0030496)|nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle pole (GO:0000922)	4 iron, 4 sulfur cluster binding (GO:0051539)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA-dependent ATPase activity (GO:0008094)|double-stranded DNA binding (GO:0003690)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)			NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1)	93		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)		TTTGAGCCGGGAGCTGAACAT	0.383																																						ENST00000256509.2																			0				NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1)	93						c.(3166-3168)gGa>gTa		cell adhesion molecule L1-like							76	75	75					3																	439982		2203	4300	6503	SO:0001583	missense	10752				axon guidance|cell adhesion|signal transduction	integral to membrane|plasma membrane|proteinaceous extracellular matrix		g.chr3:439982G>T	AF002246	CCDS2556.1, CCDS58812.1, CCDS74887.1	3p26	2013-05-01	2013-05-01		ENSG00000134121	ENSG00000134121		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	1939	protein-coding gene	gene with protein product	"neural cell adhesion molecule", "close homolog of L1"	607416	"cell adhesion molecule with homology to L1CAM (close homologue of L1)", "cell adhesion molecule with homology to L1CAM (close homolog of L1)"			9799093	Standard	NM_006614		Approved	CALL, L1CAM2, FLJ44930, MGC132578	uc003bot.3	O00533	OTTHUMG00000090601	ENST00000256509.2:c.3167G>T	3.37:g.439982G>T	ENSP00000256509:p.Gly1056Val					CHL1_ENST00000397491.2_Missense_Mutation_p.G1040V	p.G1056V	NM_001253387.1|NM_001253388.1|NM_006614.3	NP_001240316.1|NP_001240317.1|NP_006605.2	O00533	CHL1_HUMAN		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)	25	3809	+		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)	1040					Q13333|Q86VQ4|Q86W62|Q92498|Q92770|Q92998|Q92999	Missense_Mutation	SNP	ENST00000256509.2	37	c.3167G>T	CCDS2556.1	.	.	.	.	.	.	.	.	.	.	G	16.18	3.049396	0.55218	.	.	ENSG00000134121	ENST00000256509;ENST00000397491	T;T	0.65178	-0.14;-0.12	5.72	4.66	0.58398	.	0.187617	0.45606	D	0.000351	T	0.63094	0.2482	L	0.29908	0.895	0.80722	D	1	B;D	0.58970	0.228;0.984	B;P	0.56700	0.146;0.804	T	0.63457	-0.6633	10	0.48119	T	0.1	.	13.8594	0.63550	0.083:0.0:0.917:0.0	.	1040;1056	O00533;O00533-2	CHL1_HUMAN;.	V	1056;1040	ENSP00000256509:G1056V;ENSP00000380628:G1040V	ENSP00000256509:G1056V	G	+	2	0	CHL1	414982	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.562000	0.53777	2.711000	0.92665	0.650000	0.86243	GGA		0.383	CHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207155.2	NM_006614		6	63	1	0	0.0215528	0.217242	0.0247223	6	63					T	439982	G	T	439982	3	4	210	1	0	0	0	0	1	0	0	0	3349	1174	41	5	3257	5	CHL1	3	439982	Missense_Mutation	SNP	G	TCGA-HC-7736-01A-11D-2114-08		439982	197582448	7	9681											
CPOX	1371	broad.mit.edu	37	chr3	98312096	98312096	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggcggtggccagccccaccaAccccgccagcgccgcggcca	6	1	13	21	5	0	0	0	0	0	0	0	0	0	0	9	4	3	0	9	4	1	0			TCGA-HC-7736-01A-11D-2114-08	TCGA-HC-7736-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a89d72e-a967-40b5-a8eb-0d4ccd8615ce	ecc4491e-2c9a-4a6e-90a1-a0251fcf69aa	g.chr3:98312096A>C	ENST00000264193.2	-	1	471	c.253T>G	c.(253-255)Ttg>Gtg	p.L85V		NM_000097.5	NP_000088.3	P36551	HEM6_HUMAN	coproporphyrinogen oxidase	85					heme biosynthetic process (GO:0006783)|porphyrin-containing compound metabolic process (GO:0006778)|protoporphyrinogen IX biosynthetic process (GO:0006782)|response to arsenic-containing substance (GO:0046685)|response to insecticide (GO:0017085)|response to iron ion (GO:0010039)|response to lead ion (GO:0010288)|response to methylmercury (GO:0051597)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrion (GO:0005739)	coproporphyrinogen oxidase activity (GO:0004109)|protein homodimerization activity (GO:0042803)|structural constituent of eye lens (GO:0005212)	p.L85V(1)		endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(1)|stomach(1)	16						AGCCCCACCAACCCCGCCAGC	0.761																																					Esophageal Squamous(75;7 1223 22300 43648 48951)	ENST00000264193.2																			1	Substitution - Missense(1)	p.L85V(1)	skin(1)	endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(1)|stomach(1)	16						c.(253-255)Ttg>Gtg		coproporphyrinogen oxidase							3	5	4					3																	98312096		1565	3254	4819	SO:0001583	missense	1371					mitochondrial intermembrane space	coproporphyrinogen oxidase activity|protein homodimerization activity	g.chr3:98312096A>C	BC017210	CCDS2932.1	3q12	2012-10-02		2004-01-30		ENSG00000080819	1.3.3.3		2321	protein-coding gene	gene with protein product	"coproporphyria"	612732	"coproporphyrinogen oxidase (coproporphyria, harderoporphyria)"	CPO		7757079, 8407975	Standard	NM_000097		Approved	CPX, HCP	uc003dsx.3	P36551		ENST00000264193.2:c.253T>G	3.37:g.98312096A>C	ENSP00000264193:p.Leu85Val						p.L85V	NM_000097.5	NP_000088.3	P36551	HEM6_HUMAN			1	471	-			85					A8K275|B4DSD5|Q14060|Q53F08|Q8IZ45|Q96AF3	Missense_Mutation	SNP	ENST00000264193.2	37	c.253T>G	CCDS2932.1	.	.	.	.	.	.	.	.	.	.	A	4.846	0.157225	0.09236	.	.	ENSG00000080819	ENST00000264193	D	0.94092	-3.35	3.91	-3.79	0.04320	.	0.403660	0.24564	N	0.037455	T	0.82235	0.4993	L	0.29908	0.895	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.06405	0.002;0.001	T	0.67975	-0.5531	10	0.25106	T	0.35	-3.9861	1.3376	0.02148	0.1369:0.2827:0.1577:0.4227	.	85;85	B4DSD5;P36551	.;HEM6_HUMAN	V	85	ENSP00000264193:L85V	ENSP00000264193:L85V	L	-	1	2	CPOX	99794786	0.001000	0.12720	0.000000	0.03702	0.248000	0.25809	0.392000	0.20801	-0.903000	0.03881	-0.389000	0.06534	TTG		0.761	CPOX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358900.1	NM_000097		6	10	0	0	0	0.27861	0	6	10					C	98312096	A	C	98312096	3	2	210	1	0	0	0	0	1	0	0	0	3821	40	2	5	1139	5	CPOX	3	98312096	Missense_Mutation	SNP	A	TCGA-HC-7736-01A-11D-2114-08	97872114	98312096	99710334	8	9682											
MYLK	4638	broad.mit.edu	37	chr3	123419029	123419029	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcttgaaggctggggctgTcccctggctctctgatctct	3	13	12	13	0	2	2	0	2	2	0	5	2	3	2	2	4	1	4	2	4	1	1	rs200287208		TCGA-HC-7736-01A-11D-2114-08	TCGA-HC-7736-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a89d72e-a967-40b5-a8eb-0d4ccd8615ce	ecc4491e-2c9a-4a6e-90a1-a0251fcf69aa	g.chr3:123419029T>C	ENST00000475616.1	-	15	3285	c.3286A>G	c.(3286-3288)Aca>Gca	p.T1096A	MYLK_ENST00000346322.5_Missense_Mutation_p.T1027A|MYLK_ENST00000359169.1_Missense_Mutation_p.T1096A|MYLK_ENST00000510775.1_5'Flank|MYLK_ENST00000360772.3_Missense_Mutation_p.T1096A|MYLK_ENST00000360304.3_Missense_Mutation_p.T1096A			Q15746	MYLK_HUMAN	myosin light chain kinase	1096	Actin-binding (calcium/calmodulin- insensitive). {ECO:0000250}.				actin filament organization (GO:0007015)|aorta smooth muscle tissue morphogenesis (GO:0060414)|bleb assembly (GO:0032060)|cellular hypotonic response (GO:0071476)|muscle contraction (GO:0006936)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cell migration (GO:0030335)|positive regulation of wound healing (GO:0090303)|protein phosphorylation (GO:0006468)|smooth muscle contraction (GO:0006939)|tonic smooth muscle contraction (GO:0014820)	cell-cell junction (GO:0005911)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|metal ion binding (GO:0046872)|myosin light chain kinase activity (GO:0004687)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		GCTGGGGCTGTCCCCTGGCTC	0.517																																						ENST00000360772.3																			0				NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113						c.(3286-3288)Aca>Gca		myosin light chain kinase							129	131	130					3																	123419029		2203	4300	6503	SO:0001583	missense	4638				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity	g.chr3:123419029T>C	X85337	CCDS3023.1, CCDS43141.1, CCDS46896.1, CCDS46897.1, CCDS58849.1	3q21	2013-02-11	2008-01-23		ENSG00000065534	ENSG00000065534	2.7.11.18	"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	7590	protein-coding gene	gene with protein product	"smooth muscle myosin light chain kinase"	600922	"myosin, light polypeptide kinase"			8575746	Standard	NM_053026		Approved	MLCK, smMLCK, MYLK1, MLCK1	uc003ego.3	Q15746	OTTHUMG00000141304	ENST00000475616.1:c.3286A>G	3.37:g.123419029T>C	ENSP00000418335:p.Thr1096Ala					MYLK_ENST00000475616.1_Missense_Mutation_p.T1096A|MYLK_ENST00000360304.3_Missense_Mutation_p.T1096A|MYLK_ENST00000359169.1_Missense_Mutation_p.T1096A|MYLK_ENST00000346322.5_Missense_Mutation_p.T1027A	p.T1096A			Q15746	MYLK_HUMAN		GBM - Glioblastoma multiforme(114;0.0736)	19	3664	-		Lung NSC(201;0.0496)	1096			Actin-binding (calcium/calmodulin- insensitive) (By similarity).		B4DUE3|D3DN97|O95796|O95797|O95798|O95799|Q14844|Q16794|Q17S15|Q3ZCP9|Q5MY99|Q5MYA0|Q6P2N0|Q7Z4J0|Q9C0L5|Q9UBG5|Q9UBY6|Q9UIT9	Missense_Mutation	SNP	ENST00000475616.1	37	c.3286A>G	CCDS46896.1	.	.	.	.	.	.	.	.	.	.	T	7.893	0.732733	0.15507	.	.	ENSG00000065534	ENST00000360772;ENST00000360304;ENST00000359169;ENST00000346322;ENST00000475616	T;T;T;T;T	0.66280	-0.2;-0.15;-0.2;-0.12;-0.15	5.76	-2.75	0.05914	Immunoglobulin-like fold (1);	.	.	.	.	T	0.45094	0.1325	L	0.50333	1.59	0.09310	N	0.999993	B;B;B;B;B;B	0.11235	0.004;0.003;0.003;0.004;0.004;0.003	B;B;B;B;B;B	0.14578	0.011;0.004;0.005;0.011;0.003;0.005	T	0.32929	-0.9888	9	0.26408	T	0.33	.	0.2196	0.00166	0.2266:0.1958:0.2227:0.3549	.	1096;174;1027;1096;1027;1096	Q15746-6;Q15746-7;Q15746-4;Q15746-3;Q15746-2;Q15746	.;.;.;.;.;MYLK_HUMAN	A	1096;1096;1096;1027;1096	ENSP00000354004:T1096A;ENSP00000353452:T1096A;ENSP00000352088:T1096A;ENSP00000320622:T1027A;ENSP00000418335:T1096A	ENSP00000320622:T1027A	T	-	1	0	MYLK	124901719	0.000000	0.05858	0.500000	0.27589	0.371000	0.29859	0.001000	0.13038	-0.452000	0.07087	0.454000	0.30748	ACA		0.517	MYLK-004	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356464.1	NM_053025		3	143	0	0	0	0.115264	0	3	143					C	123419029	T	C	123419029	3	2	210	1	0	0	0	0	1	0	0	0	10056	1667	58	4	2526	4	MYLK	3	123419029	Missense_Mutation	SNP	T	TCGA-HC-7736-01A-11D-2114-08	25106933	123419029	74603401	9	9683											
RYK	6259	broad.mit.edu	37	chr3	133896849	133896850	+	Frame_Shift_Del	DEL	AT	AT	-																															atttaagattcccccaattcAtgtaaggcaatatcaccatg																										TCGA-HC-7736-01A-11D-2114-08	TCGA-HC-7736-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a89d72e-a967-40b5-a8eb-0d4ccd8615ce	ecc4491e-2c9a-4a6e-90a1-a0251fcf69aa	g.chr3:133896849_133896850delAT	ENST00000427044.2	-	12	1283_1284	c.673_674delAT	c.(673-675)atgfs	p.M225fs	RYK_ENST00000296084.4_Frame_Shift_Del_p.M415fs			P34925	RYK_HUMAN	receptor-like tyrosine kinase	411					axon guidance (GO:0007411)|corpus callosum development (GO:0022038)|neuron differentiation (GO:0030182)|neuron projection development (GO:0031175)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of MAPK cascade (GO:0043410)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)			lung(1)|ovary(3)	4						CCCCCAATTCATGTAAGGCAAT	0.337																																						ENST00000427044.2																			0				lung(1)|ovary(3)	4						c.(673-675)gfs		receptor-like tyrosine kinase																																				SO:0001589	frameshift_variant	6259				corpus callosum development|positive regulation of MAPKKK cascade|Wnt receptor signaling pathway	cytoplasm|integral to plasma membrane|nucleus	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr3:133896849_133896850delAT	S59184	CCDS75016.1	3q22.1	2012-02-28	2012-02-28		ENSG00000163785	ENSG00000163785	2.7.10.1		10481	protein-coding gene	gene with protein product		600524	"JTK5A protein tyrosine kinase", "RYK receptor-like tyrosine kinase"	JTK5A		8386829	Standard	NM_001005861		Approved	D3S3195, RYK1, JTK5	uc003eqc.1	P34925	OTTHUMG00000159750	ENST00000427044.2:c.673_674delAT	3.37:g.133896849_133896850delAT	ENSP00000399527:p.Met225fs					RYK_ENST00000296084.4_Frame_Shift_Del_p.M415fs	p.M225fs			P34925	RYK_HUMAN			12	1283_1284	-			411					Q04696	Frame_Shift_Del	DEL	ENST00000427044.2	37	c.673_674delAT																																																																																					0.337	RYK-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001005861		13	32						13	32	---	---	---	---	-	133896850	AT	-	133896849	7	5	210	1	0	1	0	1	0	0	0	0	13767	217	8	0	602	0	RYK	3	133896849	Frame_Shift_Del	DEL	AT	TCGA-HC-7736-01A-11D-2114-08	10477820	133896849	64125581	10	9684											
SH3TC1	54436	broad.mit.edu	37	chr4	8221109	8221109	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	acttccagggctcggggcccGaagagatgaccttccgaggt	8	7	14	12	3	0	2	0	1	0	1	3	5	2	2	4	4	0	1	4	4	1	2	rs141127247		TCGA-HC-7736-01A-11D-2114-08	TCGA-HC-7736-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a89d72e-a967-40b5-a8eb-0d4ccd8615ce	ecc4491e-2c9a-4a6e-90a1-a0251fcf69aa	g.chr4:8221109G>A	ENST00000245105.3	+	9	1031	c.964G>A	c.(964-966)Gaa>Aaa	p.E322K	SH3TC1_ENST00000539824.1_Missense_Mutation_p.E246K	NM_018986.3	NP_061859	Q8TE82	S3TC1_HUMAN	SH3 domain and tetratricopeptide repeats 1	322	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.									NS(1)|breast(3)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33						CTCGGGGCCCGAAGAGATGAC	0.677																																					NSCLC(145;2298 2623 35616 37297)	ENST00000539824.1																			0				NS(1)|breast(3)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33						c.(736-738)Gaa>Aaa		SH3 domain and tetratricopeptide repeats 1		G	LYS/GLU	0,4406		0,0,2203	52	58	56		964	4.2	0.4	4	dbSNP_134	56	1,8595	1.2+/-3.3	0,1,4297	no	missense	SH3TC1	NM_018986.3	56	0,1,6500	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	322/1337	8221109	1,13001	2203	4298	6501	SO:0001583	missense	54436						binding	g.chr4:8221109G>A	AK074093	CCDS3399.1	4p16.1	2013-01-11			ENSG00000125089	ENSG00000125089		"Tetratricopeptide (TTC) repeat domain containing"	26009	protein-coding gene	gene with protein product							Standard	NM_018986		Approved	FLJ20356	uc003gkv.4	Q8TE82	OTTHUMG00000160934	ENST00000245105.3:c.964G>A	4.37:g.8221109G>A	ENSP00000245105:p.Glu322Lys					SH3TC1_ENST00000245105.3_Missense_Mutation_p.E322K	p.E246K			Q8TE82	S3TC1_HUMAN			9	1110	+			322					Q4W5G5	Missense_Mutation	SNP	ENST00000245105.3	37	c.736G>A	CCDS3399.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.210115	0.79240	0.0	1.16E-4	ENSG00000125089	ENST00000382516;ENST00000245105;ENST00000539824;ENST00000535265;ENST00000508641	T;T;T	0.17528	2.27;2.27;2.27	4.21	4.21	0.49690	Src homology-3 domain (3);	0.146689	0.44902	D	0.000405	T	0.29491	0.0735	L	0.53249	1.67	0.40369	D	0.979325	D	0.64830	0.994	P	0.55011	0.766	T	0.07888	-1.0749	10	0.66056	D	0.02	-8.9719	13.7276	0.62767	0.0:0.0:1.0:0.0	.	322	Q8TE82	S3TC1_HUMAN	K	60;322;246;151;131	ENSP00000245105:E322K;ENSP00000441045:E246K;ENSP00000426035:E131K	ENSP00000245105:E322K	E	+	1	0	SH3TC1	8272009	1.000000	0.71417	0.413000	0.26509	0.501000	0.33797	6.722000	0.74735	1.893000	0.54813	0.491000	0.48974	GAA		0.677	SH3TC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206991.2	NM_018986		18	98	0	0	0	0.557998	0	18	98					A	8221109	G	A	8221109	3	1	210	1	0	0	0	0	1	0	0	0	14261	1059	37	2	994	2	SH3TC1	4	8221109	Missense_Mutation	SNP	G	TCGA-HC-7736-01A-11D-2114-08		8221109	182933167	11	9685											
FRAS1	80144	broad.mit.edu	37	chr4	79334179	79334179	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agccacatgttcaacatcgcGatcttaccacagacacctga	13	8	6	14	2	2	2	1	1	1	1	3	3	2	2	3	0	3	1	3	0	2	2	rs375417798		TCGA-HC-7736-01A-11D-2114-08	TCGA-HC-7736-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a89d72e-a967-40b5-a8eb-0d4ccd8615ce	ecc4491e-2c9a-4a6e-90a1-a0251fcf69aa	g.chr4:79334179G>A	ENST00000325942.6	+	32	4805	c.4365G>A	c.(4363-4365)gcG>gcA	p.A1455A	FRAS1_ENST00000264895.6_Silent_p.A1455A	NM_001166133.1	NP_001159605.1	Q86XX4	FRAS1_HUMAN	Fraser extracellular matrix complex subunit 1	1455					cell communication (GO:0007154)|embryonic limb morphogenesis (GO:0030326)|metanephros morphogenesis (GO:0003338)|morphogenesis of an epithelium (GO:0002009)|palate development (GO:0060021)|protein transport (GO:0015031)|skin development (GO:0043588)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sublamina densa (GO:0061618)	metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						TCAACATCGCGATCTTACCAC	0.512																																						ENST00000264895.6																			0				breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						c.(4363-4365)gcG>gcA		Fraser syndrome 1							127	130	129					4																	79334179		1989	4169	6158	SO:0001819	synonymous_variant	80144				cell communication	integral to membrane|plasma membrane	metal ion binding	g.chr4:79334179G>A	AB040933	CCDS54772.1	4q21.21	2014-06-25	2014-06-25		ENSG00000138759	ENSG00000138759			19185	protein-coding gene	gene with protein product		607830	"Fraser syndrome 1"			12766769, 3118036	Standard	NM_025074		Approved	FLJ22031, FLJ14927, KIAA1500	uc003hlb.2	Q86XX4	OTTHUMG00000160856	ENST00000325942.6:c.4365G>A	4.37:g.79334179G>A						FRAS1_ENST00000325942.6_Silent_p.A1455A	p.A1455A	NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN			32	4805	+			1454					A2RRR8|Q86UZ4|Q8N3U9|Q8NAU7|Q96JW7|Q9H6N9|Q9P228	Silent	SNP	ENST00000325942.6	37	c.4365G>A	CCDS54772.1																																																																																				0.512	FRAS1-001	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000362706.2			15	26	0	0	0	0.500413	0	15	26					A	79334179	G	A	79334179	2	1	210	1	0	0	0	0	0	0	0	1	6042	1045	37	2		2	FRAS1	4	79334179	Silent	SNP	G	TCGA-HC-7736-01A-11D-2114-08	71113070	79334179	111820097	12	9686											
PLEKHG4B	153478	broad.mit.edu	37	chr5	163530	163530	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaagggcctggaggtaaccAgcactgtagccacagagaag	13	4	14	10	0	0	1	0	0	0	1	0	3	0	2	3	3	3	4	3	3	4	2			TCGA-HC-7736-01A-11D-2114-08	TCGA-HC-7736-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a89d72e-a967-40b5-a8eb-0d4ccd8615ce	ecc4491e-2c9a-4a6e-90a1-a0251fcf69aa	g.chr5:163530A>C	ENST00000283426.6	+	11	2325	c.2275A>C	c.(2275-2277)Agc>Cgc	p.S759R		NM_052909.3	NP_443141.3	Q96PX9	PKH4B_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 4B	759							Rho guanyl-nucleotide exchange factor activity (GO:0005089)			endometrium(1)|large_intestine(2)|lung(2)|prostate(3)|skin(3)	11			all cancers(22;0.0253)|Lung(60;0.113)	Kidney(1;0.119)		GGAGGTAACCAGCACTGTAGC	0.622																																						ENST00000283426.6																			0				endometrium(1)|large_intestine(2)|lung(2)|prostate(3)|skin(3)	11						c.(2275-2277)Agc>Cgc		pleckstrin homology domain containing, family G (with RhoGef domain) member 4B							45	54	51					5																	163530		2203	4300	6503	SO:0001583	missense	153478				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	g.chr5:163530A>C	BC008352	CCDS34124.1	5p15.33	2013-01-11			ENSG00000153404	ENSG00000153404		"Pleckstrin homology (PH) domain containing"	29399	protein-coding gene	gene with protein product						11572484	Standard	NM_052909		Approved	KIAA1909	uc003jak.2	Q96PX9	OTTHUMG00000161570	ENST00000283426.6:c.2275A>C	5.37:g.163530A>C	ENSP00000283426:p.Ser759Arg						p.S759R	NM_052909.3	NP_443141.3	Q96PX9	PKH4B_HUMAN	all cancers(22;0.0253)|Lung(60;0.113)	Kidney(1;0.119)	11	2325	+			759						Missense_Mutation	SNP	ENST00000283426.6	37	c.2275A>C	CCDS34124.1	.	.	.	.	.	.	.	.	.	.	A	10.27	1.304615	0.23736	.	.	ENSG00000153404	ENST00000283426	T	0.34667	1.35	3.01	0.487	0.16842	.	.	.	.	.	T	0.33000	0.0848	N	0.24115	0.695	0.23346	N	0.997863	D	0.60160	0.987	P	0.56278	0.795	T	0.15065	-1.0450	9	0.52906	T	0.07	.	4.7895	0.13241	0.6937:0.0:0.3063:0.0	.	759	Q96PX9	PKH4B_HUMAN	R	759	ENSP00000283426:S759R	ENSP00000283426:S759R	S	+	1	0	PLEKHG4B	216530	1.000000	0.71417	0.156000	0.22583	0.046000	0.14306	2.618000	0.46393	-0.229000	0.09854	0.260000	0.18958	AGC		0.622	PLEKHG4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365359.1	NM_052909		44	82	0	0	0	0.853193	0	44	82					C	163530	A	C	163530	3	2	210	1	0	0	0	0	1	0	0	0	12072	188	7	5	2317	5	PLEKHG4B	5	163530	Missense_Mutation	SNP	A	TCGA-HC-7736-01A-11D-2114-08		163530	180751730	13	9687											
SEMA5A	9037	broad.mit.edu	37	chr5	9066709	9066709	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgtccagggtgtccagggcGtggtcttcttcagctcagga	5	11	15	10	1	4	0	2	0	2	0	6	1	6	1	2	4	1	1	2	4	0	2			TCGA-HC-7736-01A-11D-2114-08	TCGA-HC-7736-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a89d72e-a967-40b5-a8eb-0d4ccd8615ce	ecc4491e-2c9a-4a6e-90a1-a0251fcf69aa	g.chr5:9066709G>A	ENST00000382496.5	-	17	2788	c.2123C>T	c.(2122-2124)aCg>aTg	p.T708M		NM_003966.2	NP_003957.2	Q13591	SEM5A_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A	708	TSP type-1 4. {ECO:0000255|PROSITE- ProRule:PRU00210}.				axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|blood vessel endothelial cell proliferation involved in sprouting angiogenesis (GO:0002043)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell-cell signaling (GO:0007267)|diencephalon development (GO:0021536)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of cell adhesion (GO:0007162)|negative regulation of endothelial cell apoptotic process (GO:2000352)|nervous system development (GO:0007399)|patterning of blood vessels (GO:0001569)|positive chemotaxis (GO:0050918)|positive regulation of actin filament depolymerization (GO:0030836)|positive regulation of angiogenesis (GO:0045766)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of protein kinase B signaling (GO:0051897)|signal clustering (GO:1990256)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	axon guidance receptor activity (GO:0008046)|chondroitin sulfate proteoglycan binding (GO:0035373)|heparan sulfate proteoglycan binding (GO:0043395)|semaphorin receptor binding (GO:0030215)|syndecan binding (GO:0045545)			biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	81						TGTCCAGGGCGTGGTCTTCTT	0.552																																						ENST00000382496.5																			0				biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	81						c.(2122-2124)aCg>aTg		sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A							167	154	158					5																	9066709		2203	4300	6503	SO:0001583	missense	9037				cell adhesion|cell-cell signaling	integral to membrane|plasma membrane		g.chr5:9066709G>A	U52840	CCDS3875.1	5p15.2	2008-05-15			ENSG00000112902	ENSG00000112902		"Semaphorins"	10736	protein-coding gene	gene with protein product		609297		SEMAF		8817451, 9464278	Standard	NM_003966		Approved	semF	uc003jek.2	Q13591	OTTHUMG00000090501	ENST00000382496.5:c.2123C>T	5.37:g.9066709G>A	ENSP00000371936:p.Thr708Met						p.T708M	NM_003966.2	NP_003957.2	Q13591	SEM5A_HUMAN			17	2788	-			708			TSP type-1 4.		D3DTC6|O60408|Q1RLL9	Missense_Mutation	SNP	ENST00000382496.5	37	c.2123C>T	CCDS3875.1	.	.	.	.	.	.	.	.	.	.	G	29.6	5.018805	0.93404	.	.	ENSG00000112902	ENST00000382496	T	0.37915	1.17	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	T	0.54902	0.1887	L	0.52573	1.65	0.80722	D	1	D	0.89917	1.0	D	0.69654	0.965	T	0.54794	-0.8240	10	0.87932	D	0	.	17.2904	0.87154	0.0:0.0:1.0:0.0	.	708	Q13591	SEM5A_HUMAN	M	708	ENSP00000371936:T708M	ENSP00000371936:T708M	T	-	2	0	SEMA5A	9119709	1.000000	0.71417	0.963000	0.40424	0.892000	0.51952	9.468000	0.97676	2.761000	0.94854	0.591000	0.81541	ACG		0.552	SEMA5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206989.2			35	88	0	0	0	0.788014	0	35	88					A	9066709	G	A	9066709	3	1	210	1	0	0	0	0	1	0	0	0	14037	1145	40	1	1129	1	SEMA5A	5	9066709	Missense_Mutation	SNP	G	TCGA-HC-7736-01A-11D-2114-08	8903179	9066709	171848551	14	9688											
BAI3	577	broad.mit.edu	37	chr6	69348840	69348840	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcctggcttatcagtttgaTcatttttcccatgaaaaaat	11	16	5	9	0	2	2	2	2	0	0	4	2	4	2	2	1	0	2	2	1	4	4			TCGA-HC-7736-01A-11D-2114-08	TCGA-HC-7736-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a89d72e-a967-40b5-a8eb-0d4ccd8615ce	ecc4491e-2c9a-4a6e-90a1-a0251fcf69aa	g.chr6:69348840T>A	ENST00000370598.1	+	3	1094	c.273T>A	c.(271-273)gaT>gaA	p.D91E		NM_001704.2	NP_001695	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	91	CUB. {ECO:0000255|PROSITE- ProRule:PRU00059}.				G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				ATCAGTTTGATCATTTTTCCC	0.338																																						ENST00000370598.1																			0				NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210						c.(271-273)gaT>gaA		brain-specific angiogenesis inhibitor 3							53	59	57					6																	69348840		2201	4300	6501	SO:0001583	missense	577				negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr6:69348840T>A	AB005299	CCDS4968.1	6q12	2014-08-08			ENSG00000135298	ENSG00000135298		"-", "GPCR / Class B : Orphans"	945	protein-coding gene	gene with protein product		602684				9533023	Standard	NM_001704		Approved	KIAA0550	uc003pev.4	O60242	OTTHUMG00000014982	ENST00000370598.1:c.273T>A	6.37:g.69348840T>A	ENSP00000359630:p.Asp91Glu						p.D91E	NM_001704.2	NP_001695.1	O60242	BAI3_HUMAN			3	1094	+		all_lung(197;0.212)	91			CUB.		B7Z1K0|O60297|Q2NKN6|Q5VY37|Q9BX54	Missense_Mutation	SNP	ENST00000370598.1	37	c.273T>A	CCDS4968.1	.	.	.	.	.	.	.	.	.	.	T	15.25	2.776456	0.49786	.	.	ENSG00000135298	ENST00000370598	T	0.49720	0.77	5.32	2.95	0.34219	CUB (1);	0.000000	0.85682	D	0.000000	T	0.48040	0.1478	L	0.57536	1.79	0.80722	D	1	D	0.58970	0.984	D	0.68192	0.956	T	0.51741	-0.8667	10	0.87932	D	0	.	8.0539	0.30593	0.0:0.2222:0.0:0.7778	.	91	O60242	BAI3_HUMAN	E	91	ENSP00000359630:D91E	ENSP00000359630:D91E	D	+	3	2	BAI3	69405561	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.687000	0.37680	0.426000	0.26116	-0.250000	0.11733	GAT		0.338	BAI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041120.1			22	53	0	0	0	0.639603	0	22	53					A	69348840	T	A	69348840	3	1	210	1	0	0	0	0	1	0	0	0	1300	1432	50	5	275	5	BAI3	6	69348840	Missense_Mutation	SNP	T	TCGA-HC-7736-01A-11D-2114-08		69348840	101766227	15	9689											
TBP	6908	broad.mit.edu	37	chr6	170871043	170871043	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagcagcagcagcagcaacaGcaacagcagcagcagcagca	16	0	11	14	0	0	0	0	0	0	0	0	0	0	0	0	0	13	11	0	0	2	0			TCGA-HC-7736-01A-11D-2114-08	TCGA-HC-7736-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a89d72e-a967-40b5-a8eb-0d4ccd8615ce	ecc4491e-2c9a-4a6e-90a1-a0251fcf69aa	g.chr6:170871043G>A	ENST00000392092.2	+	3	498	c.219G>A	c.(217-219)caG>caA	p.Q73Q	TBP_ENST00000540980.1_Silent_p.Q53Q|TBP_ENST00000230354.6_Silent_p.Q73Q	NM_003194.4	NP_003185.1	P20226	TBP_HUMAN	TATA box binding protein	73	Poly-Gln.				cell death (GO:0008219)|gene expression (GO:0010467)|positive regulation of transcription, DNA-templated (GO:0045893)|spermatogenesis (GO:0007283)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription from RNA polymerase III promoter (GO:0006383)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	cytoplasm (GO:0005737)|female pronucleus (GO:0001939)|male pronucleus (GO:0001940)|nuclear euchromatin (GO:0005719)|nucleoplasm (GO:0005654)|transcription factor TFIIA complex (GO:0005672)|transcription factor TFIID complex (GO:0005669)	repressing transcription factor binding (GO:0070491)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)	p.Q73Q(1)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1)	26		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591)		agcagcaacagcaacagcagc	0.562																																						ENST00000392092.2																			1	Substitution - coding silent(1)	p.Q73Q(1)	endometrium(1)	breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1)	26						c.(217-219)caG>caA		TATA box binding protein							17	21	20					6																	170871043		1987	3877	5864	SO:0001819	synonymous_variant	6908				cell death|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription from RNA polymerase III promoter|viral reproduction	transcription factor TFIIA complex|transcription factor TFIID complex	repressing transcription factor binding|transcription regulatory region DNA binding	g.chr6:170871043G>A	M55654	CCDS5315.1, CCDS55077.1	6q27	2014-04-02			ENSG00000112592	ENSG00000112592		"General transcription factors"	11588	protein-coding gene	gene with protein product		600075		GTF2D1, SCA17		2194289, 11448935	Standard	NM_003194		Approved	TFIID	uc003qxu.3	P20226	OTTHUMG00000016084	ENST00000392092.2:c.219G>A	6.37:g.170871043G>A						TBP_ENST00000540980.1_Silent_p.Q53Q|TBP_ENST00000230354.6_Silent_p.Q73Q	p.Q73Q	NM_003194.4	NP_003185.1	P20226	TBP_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591)	3	498	+		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)	73			Poly-Gln.		B4E3B3|F5H869|Q16845|Q6IBM6|Q9UC02	Silent	SNP	ENST00000392092.2	37	c.219G>A	CCDS5315.1																																																																																				0.562	TBP-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043271.2	NM_003194		7	41	0	0	0	0.27861	0	7	41					A	170871043	G	A	170871043	2	1	210	1	0	0	0	0	0	0	0	1	15641	962	34	3		3	TBP	6	170871043	Silent	SNP	G	TCGA-HC-7736-01A-11D-2114-08	101522203	170871043	244024	16	9690											
PSMA2	5683	broad.mit.edu	37	chr7	42957400	42957400	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tagggttaagatggctgtatGaatggcatcttcaagttcca	11	13	11	6	0	2	2	1	1	1	1	3	2	3	2	1	3	0	5	1	3	5	5			TCGA-HC-7736-01A-11D-2114-08	TCGA-HC-7736-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a89d72e-a967-40b5-a8eb-0d4ccd8615ce	ecc4491e-2c9a-4a6e-90a1-a0251fcf69aa	g.chr7:42957400G>C	ENST00000223321.4	-	7	629	c.565C>G	c.(565-567)Cat>Gat	p.H189D	PSMA2_ENST00000442788.1_Missense_Mutation_p.H189D|PSMA2_ENST00000445517.1_Missense_Mutation_p.H119D	NM_002787.4	NP_002778.1	P25787	PSA2_HUMAN	proteasome (prosome, macropain) subunit, alpha type, 2	189					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|response to virus (GO:0009615)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome complex (GO:0000502)|proteasome core complex (GO:0005839)|proteasome core complex, alpha-subunit complex (GO:0019773)	threonine-type endopeptidase activity (GO:0004298)			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(1)|ovary(2)	10						ATGGCTGTATGAATGGCATCT	0.279																																						ENST00000442788.1																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(1)|ovary(2)	10						c.(565-567)Cat>Gat		proteasome (prosome, macropain) subunit, alpha type, 2							84	87	86					7																	42957400		2203	4300	6503	SO:0001583	missense	5683				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|response to virus|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome core complex, alpha-subunit complex	protein binding|threonine-type endopeptidase activity	g.chr7:42957400G>C	D00760	CCDS5467.1	7p13	2005-10-11			ENSG00000106588	ENSG00000106588		"Proteasome (prosome, macropain) subunits"	9531	protein-coding gene	gene with protein product		176842				2025653, 1888762	Standard	NM_002787		Approved	MU, HC3, PMSA2	uc003thy.3	P25787	OTTHUMG00000023916	ENST00000223321.4:c.565C>G	7.37:g.42957400G>C	ENSP00000223321:p.His189Asp					PSMA2_ENST00000445517.1_Missense_Mutation_p.H119D|PSMA2_ENST00000223321.4_Missense_Mutation_p.H189D	p.H189D			P25787	PSA2_HUMAN			7	580	-			189					Q6ICS6|Q9BU45	Missense_Mutation	SNP	ENST00000223321.4	37	c.565C>G	CCDS5467.1	.	.	.	.	.	.	.	.	.	.	G	26.5	4.740236	0.89573	.	.	ENSG00000106588	ENST00000223321;ENST00000445517	T;T	0.20463	2.07;2.07	6.03	6.03	0.97812	.	0.000000	0.85682	D	0.000000	T	0.50394	0.1613	M	0.76433	2.335	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.33033	-0.9884	10	0.45353	T	0.12	.	20.5568	0.99304	0.0:0.0:1.0:0.0	.	189	P25787	PSA2_HUMAN	D	189;119	ENSP00000223321:H189D;ENSP00000404858:H119D	ENSP00000223321:H189D	H	-	1	0	PSMA2	42923925	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.869000	0.99810	2.861000	0.98227	0.655000	0.94253	CAT		0.279	PSMA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250816.1	NM_002787		10	36	0	0	0	0.479597	0	10	36					C	42957400	G	C	42957400	3	2	210	1	0	0	0	0	1	0	0	0	12667	1290	45	5	147	5	PSMA2	7	42957400	Missense_Mutation	SNP	G	TCGA-HC-7736-01A-11D-2114-08		42957400	116181263	17	9691											
AGPAT6	137964	broad.mit.edu	37	chr8	41456786	41456786	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tggagtctcctttggtatccGcaaactctacatgaaaagtc	11	12	8	10	1	2	1	0	1	2	0	5	2	3	2	2	2	2	2	2	2	5	3			TCGA-HC-7736-01A-11D-2114-08	TCGA-HC-7736-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a89d72e-a967-40b5-a8eb-0d4ccd8615ce	ecc4491e-2c9a-4a6e-90a1-a0251fcf69aa	g.chr8:41456786G>A	ENST00000396987.3	+	2	1055	c.128G>A	c.(127-129)cGc>cAc	p.R43H		NM_178819.3	NP_848934.1	Q86UL3	GPAT4_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 6	43					acyl-CoA metabolic process (GO:0006637)|CDP-diacylglycerol biosynthetic process (GO:0016024)|cellular lipid metabolic process (GO:0044255)|diacylglycerol metabolic process (GO:0046339)|fatty acid metabolic process (GO:0006631)|glandular epithelial cell maturation (GO:0002071)|glycerophospholipid biosynthetic process (GO:0046474)|lactation (GO:0007595)|lipid biosynthetic process (GO:0008610)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	glycerol-3-phosphate O-acyltransferase activity (GO:0004366)	p.R43H(2)		endometrium(3)|kidney(2)|large_intestine(3)|lung(6)	14	Ovarian(28;0.00769)|Colorectal(14;0.0202)|Lung SC(25;0.211)	all_lung(54;0.0131)|Lung NSC(58;0.0363)|Hepatocellular(245;0.0462)|Esophageal squamous(32;0.0844)	OV - Ovarian serous cystadenocarcinoma(14;0.00126)|Colorectal(10;0.0014)|Lung(22;0.00177)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0147)			TTTGGTATCCGCAAACTCTAC	0.433																																						ENST00000396987.3																			2	Substitution - Missense(2)	p.R43H(2)	kidney(1)|endometrium(1)	endometrium(3)|kidney(2)|large_intestine(3)|lung(6)	14						c.(127-129)cGc>cAc		1-acylglycerol-3-phosphate O-acyltransferase 6							143	134	137					8																	41456786		2203	4300	6503	SO:0001583	missense	137964				acyl-CoA metabolic process|lactation|phosphatidylcholine biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|membrane fraction	glycerol-3-phosphate O-acyltransferase activity	g.chr8:41456786G>A	AF406612	CCDS6117.1	8p11.21	2013-02-05	2013-02-05			ENSG00000158669	2.3.1.15	"1-acylglycerol-3-phosphate O-acyltransferases"	20880	protein-coding gene	gene with protein product	"lysophosphatidic acid acyltransferase, zeta"	608143	"1-acylglycerol-3-phosphate O-acyltransferase 6 (lysophosphatidic acid acyltransferase, zeta)"			12938015	Standard	NM_178819		Approved	DKFZp586M1819, LPAAT-zeta	uc003xnz.2	Q86UL3		ENST00000396987.3:c.128G>A	8.37:g.41456786G>A	ENSP00000380184:p.Arg43His						p.R43H	NM_178819.3	NP_848934.1	Q86UL3	GPAT4_HUMAN	OV - Ovarian serous cystadenocarcinoma(14;0.00126)|Colorectal(10;0.0014)|Lung(22;0.00177)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0147)		2	1055	+	Ovarian(28;0.00769)|Colorectal(14;0.0202)|Lung SC(25;0.211)	all_lung(54;0.0131)|Lung NSC(58;0.0363)|Hepatocellular(245;0.0462)|Esophageal squamous(32;0.0844)	43					Q86V89	Missense_Mutation	SNP	ENST00000396987.3	37	c.128G>A	CCDS6117.1	.	.	.	.	.	.	.	.	.	.	G	35	5.581895	0.96578	.	.	ENSG00000158669	ENST00000396987	T	0.58797	0.31	5.98	5.98	0.97165	.	0.000000	0.85682	D	0.000000	T	0.77658	0.4163	M	0.80183	2.485	0.80722	D	1	D	0.76494	0.999	D	0.65140	0.932	T	0.78979	-0.1990	10	0.72032	D	0.01	.	19.5092	0.95133	0.0:0.0:1.0:0.0	.	43	Q86UL3	GPAT4_HUMAN	H	43	ENSP00000380184:R43H	ENSP00000380184:R43H	R	+	2	0	AGPAT6	41575943	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	9.869000	0.99810	2.861000	0.98227	0.650000	0.86243	CGC		0.433	AGPAT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377158.1	NM_178819		4	110	0	0	0	0.150653	0	4	110					A	41456786	G	A	41456786	3	1	210	1	0	0	0	0	1	0	0	0	391	1087	38	1	130	1	AGPAT6	8	41456786	Missense_Mutation	SNP	G	TCGA-HC-7736-01A-11D-2114-08		41456786	104907236	18	9692											
MAPKAP1	79109	broad.mit.edu	37	chr9	128321994	128321994	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	caaagtactgaagccaaactTatgaatgggctcattggaat	15	10	9	7	0	1	2	1	2	0	0	1	3	1	3	1	2	3	2	1	2	7	3			TCGA-HC-7736-01A-11D-2114-08	TCGA-HC-7736-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a89d72e-a967-40b5-a8eb-0d4ccd8615ce	ecc4491e-2c9a-4a6e-90a1-a0251fcf69aa	g.chr9:128321994T>G	ENST00000373498.1	-	5	834	c.766A>C	c.(766-768)Aag>Cag	p.K256Q	MAPKAP1_ENST00000373497.5_Intron|MAPKAP1_ENST00000373503.3_Missense_Mutation_p.K64Q|MAPKAP1_ENST00000394063.1_Missense_Mutation_p.K64Q|MAPKAP1_ENST00000350766.3_Missense_Mutation_p.K256Q|MAPKAP1_ENST00000265960.3_Missense_Mutation_p.K256Q|MAPKAP1_ENST00000394060.3_Missense_Mutation_p.K256Q|MAPKAP1_ENST00000373511.2_Missense_Mutation_p.K256Q			Q9BPZ7	SIN1_HUMAN	mitogen-activated protein kinase associated protein 1	256	Interaction with NBN.				epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|negative regulation of Ras protein signal transduction (GO:0046580)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|substantia nigra development (GO:0021762)|T cell costimulation (GO:0031295)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	phosphatidic acid binding (GO:0070300)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein kinase binding (GO:0019901)|Ras GTPase binding (GO:0017016)			endometrium(2)|kidney(1)|large_intestine(2)|lung(15)|ovary(3)	23						AAGCCAAACTTATGAATGGGC	0.473																																						ENST00000265960.3																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(15)|ovary(3)	23						c.(766-768)Aag>Cag		mitogen-activated protein kinase associated protein 1							95	82	86					9																	128321994		2203	4300	6503	SO:0001583	missense	79109				nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|response to stress|T cell costimulation	cytoplasmic membrane-bounded vesicle|cytosol|nucleus|plasma membrane	Ras GTPase binding	g.chr9:128321994T>G	M37191	CCDS6864.1, CCDS35139.1, CCDS35140.1, CCDS35141.1, CCDS48020.1	9q34.11	2008-02-05			ENSG00000119487	ENSG00000119487			18752	protein-coding gene	gene with protein product	"stress-activated protein kinase-interacting 1"	610558				15363842	Standard	NM_001006620		Approved	MGC2745, SIN1, MIP1	uc004bpv.3	Q9BPZ7	OTTHUMG00000020683	ENST00000373498.1:c.766A>C	9.37:g.128321994T>G	ENSP00000362597:p.Lys256Gln					MAPKAP1_ENST00000373497.5_Intron|MAPKAP1_ENST00000373498.1_Missense_Mutation_p.K256Q|MAPKAP1_ENST00000394060.3_Missense_Mutation_p.K256Q|MAPKAP1_ENST00000373511.2_Missense_Mutation_p.K256Q|MAPKAP1_ENST00000373503.3_Missense_Mutation_p.K64Q|MAPKAP1_ENST00000394063.1_Missense_Mutation_p.K64Q|MAPKAP1_ENST00000350766.3_Missense_Mutation_p.K256Q	p.K256Q	NM_001006617.1	NP_001006618.1	Q9BPZ7	SIN1_HUMAN			6	1098	-			256					A8K1Z5|B1AMA4|B7Z309|Q00426|Q5JSV5|Q5JSV6|Q5JSV9|Q658R0|Q699U1|Q699U2|Q699U3|Q699U4|Q6GVJ0|Q6GVJ1|Q6GVJ2	Missense_Mutation	SNP	ENST00000373498.1	37	c.766A>C	CCDS35140.1	.	.	.	.	.	.	.	.	.	.	T	33	5.241171	0.95272	.	.	ENSG00000119487	ENST00000373511;ENST00000350766;ENST00000373503;ENST00000373498;ENST00000265960;ENST00000394063;ENST00000420643;ENST00000394060;ENST00000427078	.	.	.	5.93	5.93	0.95920	.	0.137101	0.64402	D	0.000003	T	0.75561	0.3866	M	0.66506	2.035	0.80722	D	1	D;P;P;P;D	0.63046	0.992;0.956;0.829;0.673;0.977	P;P;P;B;P	0.60541	0.77;0.656;0.676;0.296;0.876	T	0.77197	-0.2676	9	0.56958	D	0.05	-0.7949	16.3943	0.83563	0.0:0.0:0.0:1.0	.	256;256;256;256;256	Q9BPZ7-6;Q9BPZ7-5;Q9BPZ7-3;Q9BPZ7-2;Q9BPZ7	.;.;.;.;SIN1_HUMAN	Q	256;256;64;256;256;64;64;256;64	.	ENSP00000265960:K256Q	K	-	1	0	MAPKAP1	127361815	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.040000	0.89188	2.281000	0.76405	0.533000	0.62120	AAG		0.473	MAPKAP1-009	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054092.1			19	60	0	0	0	0.557998	0	19	60					G	128321994	T	G	128321994	3	3	210	1	0	0	0	0	1	0	0	0	9288	1763	61	5	848	5	MAPKAP1	9	128321994	Missense_Mutation	SNP	T	TCGA-HC-7736-01A-11D-2114-08		128321994	12891437	19	9693											
PRTFDC1	56952	broad.mit.edu	37	chr10	25160963	25160963	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gaaagatcatcgcctccgatTatctgcatctcacccatgga	11	10	7	13	2	3	1	2	0	2	1	6	4	4	2	3	1	1	1	3	1	2	1			TCGA-HC-7736-01A-11D-2114-08	TCGA-HC-7736-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a89d72e-a967-40b5-a8eb-0d4ccd8615ce	ecc4491e-2c9a-4a6e-90a1-a0251fcf69aa	g.chr10:25160963T>C	ENST00000320152.6	-	4	397	c.369A>G	c.(367-369)atA>atG	p.I123M	PRTFDC1_ENST00000376378.1_Missense_Mutation_p.I123M	NM_020200.5	NP_064585.1	Q9NRG1	PRDC1_HUMAN	phosphoribosyl transferase domain containing 1	123					nucleoside metabolic process (GO:0009116)	cytosol (GO:0005829)	magnesium ion binding (GO:0000287)|nucleotide binding (GO:0000166)|protein homodimerization activity (GO:0042803)			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	9						CGCCTCCGATTATCTGCATCT	0.448																																						ENST00000320152.6																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	9						c.(367-369)atA>atG		phosphoribosyl transferase domain containing 1							266	230	242					10																	25160963		2203	4300	6503	SO:0001583	missense	56952				adenine salvage|central nervous system neuron development|cerebral cortex neuron differentiation|cytolysis|dendrite morphogenesis|GMP salvage|grooming behavior|hypoxanthine metabolic process|IMP salvage|lymphocyte proliferation|positive regulation of dopamine metabolic process|purine ribonucleoside salvage|response to amphetamine|striatum development	cytosol	hypoxanthine phosphoribosyltransferase activity|magnesium ion binding|nucleotide binding|protein homodimerization activity	g.chr10:25160963T>C	AF226056	CCDS7145.1, CCDS60506.1	10p12.31	2003-11-10			ENSG00000099256	ENSG00000099256			23333	protein-coding gene	gene with protein product		610751					Standard	XM_005252537		Approved	HHGP	uc001ise.1	Q9NRG1	OTTHUMG00000017829	ENST00000320152.6:c.369A>G	10.37:g.25160963T>C	ENSP00000318602:p.Ile123Met					PRTFDC1_ENST00000376378.1_Missense_Mutation_p.I123M	p.I123M	NM_020200.5	NP_064585.1	Q9NRG1	PRDC1_HUMAN			4	397	-			123					B7Z1Z3|Q53HA7|Q59EL9|Q5VV18|Q5VV20	Missense_Mutation	SNP	ENST00000320152.6	37	c.369A>G	CCDS7145.1	.	.	.	.	.	.	.	.	.	.	T	13.77	2.335135	0.41398	.	.	ENSG00000099256	ENST00000320152;ENST00000358336;ENST00000376378	D;D	0.99399	-5.83;-5.83	5.7	-5.82	0.02333	Phosphoribosyltransferase (1);	0.084250	0.85682	N	0.000000	D	0.98413	0.9472	M	0.67569	2.06	0.35688	D	0.814612	B;B	0.27286	0.074;0.174	B;B	0.37650	0.038;0.255	D	0.90394	0.4397	10	0.49607	T	0.09	.	13.9724	0.64250	0.0:0.0724:0.7253:0.2023	.	123;123	Q9NRG1-2;Q9NRG1	.;PRDC1_HUMAN	M	123	ENSP00000318602:I123M;ENSP00000365558:I123M	ENSP00000318602:I123M	I	-	3	3	PRTFDC1	25200969	0.820000	0.29190	0.579000	0.28588	0.878000	0.50629	-0.173000	0.09854	-1.387000	0.02095	-0.313000	0.08912	ATA		0.448	PRTFDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047243.2	NM_020200		18	244	0	0	0	0.575678	0	18	244					C	25160963	T	C	25160963	3	2	210	1	0	0	0	0	1	0	0	0	12637	1744	61	4	332	4	PRTFDC1	10	25160963	Missense_Mutation	SNP	T	TCGA-HC-7736-01A-11D-2114-08		25160963	110373784	20	9694											
PHYHIPL	84457	broad.mit.edu	37	chr10	60994191	60994191	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atggattcaaaatcaaaggaTcgcattacacactattttat	16	13	5	7	1	2	0	2	0	0	0	3	2	2	2	0	2	1	1	0	2	6	5			TCGA-HC-7736-01A-11D-2114-08	TCGA-HC-7736-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a89d72e-a967-40b5-a8eb-0d4ccd8615ce	ecc4491e-2c9a-4a6e-90a1-a0251fcf69aa	g.chr10:60994191T>C	ENST00000373880.4	+	2	498	c.234T>C	c.(232-234)gaT>gaC	p.D78D	PHYHIPL_ENST00000373878.3_Silent_p.D52D	NM_032439.3	NP_115815.2	Q96FC7	PHIPL_HUMAN	phytanoyl-CoA 2-hydroxylase interacting protein-like	78	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.					cytoplasm (GO:0005737)|mitochondrion (GO:0005739)				NS(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(3)|skin(1)|urinary_tract(1)	18						AATCAAAGGATCGCATTACAC	0.323																																						ENST00000373880.4																			0				NS(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(3)|skin(1)|urinary_tract(1)	18						c.(232-234)gaT>gaC		phytanoyl-CoA 2-hydroxylase interacting protein-like							105	93	97					10																	60994191		2203	4300	6503	SO:0001819	synonymous_variant	84457							g.chr10:60994191T>C	AL834339	CCDS7254.1, CCDS44405.1	10q21.1	2013-02-11	2006-01-09		ENSG00000165443	ENSG00000165443		"Fibronectin type III domain containing"	29378	protein-coding gene	gene with protein product			"phytanoyl-CoA hydroxylase interacting protein-like"			11347906	Standard	NM_032439		Approved	KIAA1796, Em:AC025038.1	uc001jkk.4	Q96FC7	OTTHUMG00000018276	ENST00000373880.4:c.234T>C	10.37:g.60994191T>C						PHYHIPL_ENST00000373878.3_Silent_p.D52D	p.D78D	NM_032439.3	NP_115815.2	Q96FC7	PHIPL_HUMAN			2	498	+			78			Fibronectin type-III.		B7WP61|Q68DF3|Q6UXY3|Q8N3W3|Q96JM9|Q96NP7	Silent	SNP	ENST00000373880.4	37	c.234T>C	CCDS7254.1																																																																																				0.323	PHYHIPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048156.1	NM_032439		31	49	0	0	0	0.729181	0	31	49					C	60994191	T	C	60994191	2	2	210	1	0	0	0	0	0	0	0	1	11867	1432	50	4		4	PHYHIPL	10	60994191	Silent	SNP	T	TCGA-HC-7736-01A-11D-2114-08	35833228	60994191	74540556	21	9695											
CDH23	414152	broad.mit.edu	37	chr10	73491778	73491778	+	Intron	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtgaactaccgcatcctgtcGggcgcagaggggaagtttga	9	8	15	9	3	0	3	0	2	0	1	2	4	1	4	2	3	2	3	2	3	3	2			TCGA-HC-7736-01A-11D-2114-08	TCGA-HC-7736-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a89d72e-a967-40b5-a8eb-0d4ccd8615ce	ecc4491e-2c9a-4a6e-90a1-a0251fcf69aa	g.chr10:73491778G>A	ENST00000398786.2	-	1	97				CDH23_ENST00000224721.6_Silent_p.S1255S	NM_001168390.1	NP_001161862.1	Q8TEF2	CJ105_HUMAN	chromosome 10 open reading frame 105							integral component of membrane (GO:0016021)											GCATCCTGTCGGGCGCAGAGG	0.552																																						ENST00000224721.6																			0				NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						c.(3763-3765)tcG>tcA		cadherin-related 23							61	66	65					10																	73491778		2084	4205	6289	SO:0001627	intron_variant	64072				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding	g.chr10:73491778G>A	AK074172	CCDS44430.1	10q22.1	2012-06-01			ENSG00000214688	ENSG00000214688			20304	protein-coding gene	gene with protein product							Standard	NM_001164375		Approved	FLJ00245	uc001jsa.2	Q8TEF2	OTTHUMG00000018427	ENST00000398786.2:c.4+5706C>T	10.37:g.73491778G>A						C10orf105_ENST00000398786.2_Intron	p.S1255S	NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN			31	3770	+			1250			Cadherin 12.			Silent	SNP	ENST00000398786.2	37	c.3765G>A	CCDS44430.1																																																																																				0.552	C10orf105-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048551.2	NM_001164375		4	28	0	0	0	0.150653	0	4	28					A	73491778	G	A	73491778	1	1	210	0	1	0	0	0	0	0	0	0	3108	1103	39	2		2	CDH23	10	73491778	Intron	SNP	G	TCGA-HC-7736-01A-11D-2114-08	12497587	73491778	62042969	22	9696											
NLRX1	79671	broad.mit.edu	37	chr11	119043649	119043649	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaagctcggtagatagcgcTcccccacccgggaggcatgg	8	5	15	13	3	0	1	0	0	0	1	2	3	1	3	3	5	2	4	3	5	3	2			TCGA-HC-7736-01A-11D-2114-08	TCGA-HC-7736-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a89d72e-a967-40b5-a8eb-0d4ccd8615ce	ecc4491e-2c9a-4a6e-90a1-a0251fcf69aa	g.chr11:119043649T>C	ENST00000409109.1	+	4	767	c.180T>C	c.(178-180)gcT>gcC	p.A60A	NLRX1_ENST00000474751.2_3'UTR|NLRX1_ENST00000525863.1_Silent_p.A60A|NLRX1_ENST00000409991.1_Silent_p.A60A|NLRX1_ENST00000409265.4_Silent_p.A60A|NLRX1_ENST00000292199.2_Silent_p.A60A	NM_001282144.1	NP_001269073.1	Q86UT6	NLRX1_HUMAN	NLR family member X1	60					innate immune response (GO:0045087)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of inflammatory response (GO:0050728)|negative regulation of innate immune response (GO:0045824)|negative regulation of interferon-beta production (GO:0032688)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of RIG-I signaling pathway (GO:0039536)|negative regulation of type I interferon production (GO:0032480)|viral process (GO:0016032)	mitochondrial outer membrane (GO:0005741)	ATP binding (GO:0005524)			cervix(1)|endometrium(2)|kidney(2)|lung(10)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	22	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)		TAGATAGCGCTCCCCCACCCG	0.632																																						ENST00000409109.1																			0				cervix(1)|endometrium(2)|kidney(2)|lung(10)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	22						c.(178-180)gcT>gcC		NLR family member X1							76	74	74					11																	119043649		2200	4295	6495	SO:0001819	synonymous_variant	79671				innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production	mitochondrial outer membrane	ATP binding	g.chr11:119043649T>C	AB094095	CCDS8416.1	11q23.3	2007-02-07			ENSG00000160703	ENSG00000160703		"Nucleotide-binding domain and leucine rich repeat containing"	29890	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat containing X1", "NOD-like receptor X1", "NLR family, X1"	611947				12766759	Standard	XM_005271669		Approved	NOD9, CLR11.3	uc001pvw.3	Q86UT6	OTTHUMG00000154476	ENST00000409109.1:c.180T>C	11.37:g.119043649T>C						NLRX1_ENST00000292199.2_Silent_p.A60A|NLRX1_ENST00000409991.1_Silent_p.A60A|NLRX1_ENST00000409265.4_Silent_p.A60A|NLRX1_ENST00000525863.1_Silent_p.A60A	p.A60A			Q86UT6	NLRX1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)	4	767	+	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)	60					A8K6Q1|B3KPK2|B3KTA2|Q7RTR3|Q96D51|Q9H724	Silent	SNP	ENST00000409109.1	37	c.180T>C	CCDS8416.1																																																																																				0.632	NLRX1-004	PUTATIVE	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335403.1	NM_170722		3	84	0	0	0	0.115264	0	3	84					C	119043649	T	C	119043649	2	2	210	1	0	0	0	0	0	0	0	1	10485	1538	54	4		4	NLRX1	11	119043649	Silent	SNP	T	TCGA-HC-7736-01A-11D-2114-08		119043649	15962867	23	9697											
PVRL1	5818	broad.mit.edu	37	chr11	119548471	119548471	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccacactgggaggcttcccaTtggctgaggtgcaggtggcc	6	8	15	12	0	0	1	0	1	0	0	1	2	1	2	3	6	1	3	3	6	0	2	rs367791177		TCGA-HC-7736-01A-11D-2114-08	TCGA-HC-7736-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a89d72e-a967-40b5-a8eb-0d4ccd8615ce	ecc4491e-2c9a-4a6e-90a1-a0251fcf69aa	g.chr11:119548471T>C	ENST00000264025.3	-	3	1057	c.527A>G	c.(526-528)aAt>aGt	p.N176S	PVRL1_ENST00000341398.2_Missense_Mutation_p.N176S|PVRL1_ENST00000524510.1_5'UTR|PVRL1_ENST00000340882.2_Missense_Mutation_p.N176S	NM_002855.4	NP_002846.3	Q15223	PVRL1_HUMAN	poliovirus receptor-related 1 (herpesvirus entry mediator C)	176	Ig-like C2-type 1.				adherens junction organization (GO:0034332)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|desmosome organization (GO:0002934)|enamel mineralization (GO:0070166)|heterophilic cell-cell adhesion (GO:0007157)|homophilic cell adhesion (GO:0007156)|immune response (GO:0006955)|iron ion transport (GO:0006826)|lens morphogenesis in camera-type eye (GO:0002089)|regulation of synapse assembly (GO:0051963)|retina development in camera-type eye (GO:0060041)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|viral entry into host cell (GO:0046718)	adherens junction (GO:0005912)|axon (GO:0030424)|cell-cell adherens junction (GO:0005913)|extracellular region (GO:0005576)|growth cone membrane (GO:0032584)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886)|synapse (GO:0045202)	carbohydrate binding (GO:0030246)|cell adhesion molecule binding (GO:0050839)|coreceptor activity (GO:0015026)|protein homodimerization activity (GO:0042803)|virion binding (GO:0046790)|virus receptor activity (GO:0001618)			breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		Breast(348;0.037)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.29e-05)		AGGCTTCCCATTGGCTGAGGT	0.577																																						ENST00000264025.3																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(526-528)aAt>aGt		poliovirus receptor-related 1 (herpesvirus entry mediator C)			SER/ASN,SER/ASN,SER/ASN	0,4398		0,0,2199	102	88	92		527,527,527	5.3	1	11		92	2,8588	2.2+/-6.3	0,2,4293	no	missense,missense,missense	PVRL1	NM_002855.4,NM_203285.1,NM_203286.1	46,46,46	0,2,6492	CC,CT,TT		0.0233,0.0,0.0154	probably-damaging,probably-damaging,probably-damaging	176/518,176/459,176/353	119548471	2,12986	2199	4295	6494	SO:0001583	missense	5818				adherens junction organization|cell junction assembly|entry of virus into host cell|heterophilic cell-cell adhesion|homophilic cell adhesion|immune response	cell-cell adherens junction|extracellular region|integral to membrane	cell adhesion molecule binding|coreceptor activity|protein homodimerization activity	g.chr11:119548471T>C	X76400	CCDS8425.1, CCDS8426.1, CCDS8427.1	11q23-q24	2013-01-29	2007-06-07		ENSG00000110400	ENSG00000110400		"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	9706	protein-coding gene	gene with protein product	"nectin"	600644		HVEC, ED4		7721102, 9616127	Standard	NM_203285		Approved	PRR, PRR1, PVRR1, SK-12, HIgR, CLPED1, CD111, OFC7	uc001pwv.3	Q15223	OTTHUMG00000166177	ENST00000264025.3:c.527A>G	11.37:g.119548471T>C	ENSP00000264025:p.Asn176Ser					PVRL1_ENST00000340882.2_Missense_Mutation_p.N176S|PVRL1_ENST00000524510.1_5'UTR|PVRL1_ENST00000341398.2_Missense_Mutation_p.N176S	p.N176S	NM_002855.4	NP_002846.3	Q15223	PVRL1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.29e-05)	3	1057	-		Breast(348;0.037)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	176			Ig-like C2-type 1.		O75465|Q2M3D3|Q9HBE6|Q9HBW2	Missense_Mutation	SNP	ENST00000264025.3	37	c.527A>G	CCDS8426.1	.	.	.	.	.	.	.	.	.	.	t	21.3	4.130883	0.77549	0.0	2.33E-4	ENSG00000110400	ENST00000341398;ENST00000264025;ENST00000340882	D;D;D	0.85629	-2.01;-2.01;-2.01	5.31	5.31	0.75309	CD80-like, immunoglobulin C2-set (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.90844	0.7124	M	0.68593	2.085	0.54753	D	0.999987	D;D;D	0.89917	0.997;1.0;0.999	D;D;D	0.77004	0.967;0.989;0.931	D	0.90725	0.4638	9	.	.	.	.	14.4542	0.67407	0.0:0.0:0.0:1.0	.	176;176;176	Q15223-3;Q15223;Q15223-2	.;PVRL1_HUMAN;.	S	176	ENSP00000344974:N176S;ENSP00000264025:N176S;ENSP00000345289:N176S	.	N	-	2	0	PVRL1	119053681	1.000000	0.71417	0.988000	0.46212	0.957000	0.61999	7.692000	0.84203	2.030000	0.59900	0.454000	0.30748	AAT		0.577	PVRL1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388231.1			20	21	0	0	0	0.624587	0	20	21					C	119548471	T	C	119548471	3	2	210	1	0	0	0	0	1	0	0	0	12839	1493	52	4	1488	4	PVRL1	11	119548471	Missense_Mutation	SNP	T	TCGA-HC-7736-01A-11D-2114-08	504822	119548471	15458045	24	9698											
MFSD5	84975	broad.mit.edu	37	chr12	53646693	53646693	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gctggaactgtcaagatgccGggctaaaccccctggaaggg	10	6	14	11	1	1	1	1	0	0	1	1	3	1	3	3	4	3	2	3	4	5	1			TCGA-HC-7736-01A-11D-2114-08	TCGA-HC-7736-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a89d72e-a967-40b5-a8eb-0d4ccd8615ce	ecc4491e-2c9a-4a6e-90a1-a0251fcf69aa	g.chr12:53646693G>C	ENST00000329548.4	+	2	265	c.74G>C	c.(73-75)cGg>cCg	p.R25P	MFSD5_ENST00000534842.1_Missense_Mutation_p.R132P	NM_032889.4	NP_116278.3	Q6N075	MFSD5_HUMAN	major facilitator superfamily domain containing 5	25					ion transport (GO:0006811)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|skin(3)|urinary_tract(1)	16						TCAAGATGCCGGGCTAAACCC	0.597																																						ENST00000534842.1																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|skin(3)|urinary_tract(1)	16						c.(394-396)cGg>cCg		major facilitator superfamily domain containing 5							87	94	92					12																	53646693		2203	4300	6503	SO:0001583	missense	84975				transport	integral to membrane		g.chr12:53646693G>C	AK097576	CCDS8851.1, CCDS53796.1	12q13.13	2012-03-09			ENSG00000182544	ENSG00000182544			28156	protein-coding gene	gene with protein product							Standard	NM_032889		Approved	MGC11308	uc001sch.2	Q6N075	OTTHUMG00000170028	ENST00000329548.4:c.74G>C	12.37:g.53646693G>C	ENSP00000332624:p.Arg25Pro					MFSD5_ENST00000329548.4_Missense_Mutation_p.R25P	p.R132P	NM_001170790.1	NP_001164261.1	Q6N075	MFSD5_HUMAN			2	542	+			25					G3V1N7|Q6NW04|Q8N7W8|Q8NCK0|Q96IA5	Missense_Mutation	SNP	ENST00000329548.4	37	c.395G>C	CCDS8851.1	.	.	.	.	.	.	.	.	.	.	G	15.98	2.992271	0.54041	.	.	ENSG00000182544	ENST00000551660;ENST00000534842;ENST00000328704;ENST00000329548	.	.	.	4.3	1.46	0.22682	.	0.138269	0.48767	D	0.000165	T	0.61160	0.2325	L	0.59436	1.845	0.35772	D	0.820997	D;D	0.76494	0.989;0.999	D;D	0.66716	0.929;0.946	T	0.64546	-0.6382	9	0.49607	T	0.09	-2.3377	7.4477	0.27221	0.3641:0.0:0.6359:0.0	.	25;132	Q6N075;G3V1N7	MFSD5_HUMAN;.	P	132;132;132;25	.	ENSP00000331231:R132P	R	+	2	0	MFSD5	51932960	1.000000	0.71417	0.998000	0.56505	0.991000	0.79684	1.548000	0.36201	0.126000	0.18424	0.561000	0.74099	CGG		0.597	MFSD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406896.1	NM_032889		25	120	0	0	0	0.639603	0	25	120					C	53646693	G	C	53646693	3	2	210	1	0	0	0	0	1	0	0	0	9534	1116	39	5	401	5	MFSD5	12	53646693	Missense_Mutation	SNP	G	TCGA-HC-7736-01A-11D-2114-08		53646693	80205202	25	9699											
APBA2	321	broad.mit.edu	37	chr15	29346408	29346408	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atccgctactgccctgaggaCgacagctacctagagggcat	10	7	11	13	2	0	2	0	1	0	1	1	4	1	3	3	2	4	3	3	2	3	3	rs369962967		TCGA-HC-7736-01A-11D-2114-08	TCGA-HC-7736-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a89d72e-a967-40b5-a8eb-0d4ccd8615ce	ecc4491e-2c9a-4a6e-90a1-a0251fcf69aa	g.chr15:29346408C>T	ENST00000558402.1	+	5	920	c.321C>T	c.(319-321)gaC>gaT	p.D107D	APBA2_ENST00000558330.1_Silent_p.D107D|APBA2_ENST00000558259.1_Silent_p.D107D|APBA2_ENST00000411764.1_Silent_p.D107D|APBA2_ENST00000561069.1_Silent_p.D107D			Q99767	APBA2_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 2	107					in utero embryonic development (GO:0001701)|locomotory behavior (GO:0007626)|multicellular organism growth (GO:0035264)|nervous system development (GO:0007399)|protein transport (GO:0015031)|regulation of gene expression (GO:0010468)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)	beta-amyloid binding (GO:0001540)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|liver(2)|lung(33)|stomach(1)|urinary_tract(1)	59		all_lung(180;1.73e-12)|Breast(32;2.89e-05)|Colorectal(260;0.234)		all cancers(64;7.44e-11)|Epithelial(43;5.74e-10)|GBM - Glioblastoma multiforme(186;0.026)|BRCA - Breast invasive adenocarcinoma(123;0.0286)|Lung(196;0.24)		GCCCTGAGGACGACAGCTACC	0.602																																						ENST00000558402.1																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|liver(2)|lung(33)|stomach(1)|urinary_tract(1)	59						c.(319-321)gaC>gaT		amyloid beta (A4) precursor protein-binding, family A, member 2		C	,	1,4405	2.1+/-5.4	0,1,2202	144	120	129		321,321	-2.8	1	15		129	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	APBA2	NM_001130414.1,NM_005503.3	,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,	107/738,107/750	29346408	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	321				nervous system development|protein transport		protein binding	g.chr15:29346408C>T	AB014719	CCDS10022.1, CCDS45197.1	15q11-q12	2008-07-18	2008-07-18		ENSG00000034053	ENSG00000034053			579	protein-coding gene	gene with protein product		602712	"X11-like", "amyloid beta (A4) precursor protein-binding, family A, member 2 (X11-like)"	X11L, MINT2		8955346	Standard	NM_005503		Approved	D15S1518E, LIN-10, MGC:14091, HsT16821	uc001zck.3	Q99767	OTTHUMG00000129255	ENST00000558402.1:c.321C>T	15.37:g.29346408C>T						APBA2_ENST00000561069.1_Silent_p.D107D|APBA2_ENST00000558330.1_Silent_p.D107D|APBA2_ENST00000411764.1_Silent_p.D107D|APBA2_ENST00000558259.1_Silent_p.D107D	p.D107D			Q99767	APBA2_HUMAN		all cancers(64;7.44e-11)|Epithelial(43;5.74e-10)|GBM - Glioblastoma multiforme(186;0.026)|BRCA - Breast invasive adenocarcinoma(123;0.0286)|Lung(196;0.24)	5	920	+		all_lung(180;1.73e-12)|Breast(32;2.89e-05)|Colorectal(260;0.234)	107					E9PGI4|O60571|Q5XKC0	Silent	SNP	ENST00000558402.1	37	c.321C>T	CCDS10022.1																																																																																				0.602	APBA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251362.3	NM_005503		5	154	0	0	0	0.184627	0	5	154					T	29346408	C	T	29346408	2	4	210	1	0	0	0	0	0	0	0	1	757	535	19	1		1	APBA2	15	29346408	Silent	SNP	C	TCGA-HC-7736-01A-11D-2114-08		29346408	73184984	26	9700											
RYR3	6263	broad.mit.edu	37	chr15	33938650	33938650	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	aatgccgacatgatctattgCcgcttgagcatgcctgtcga	9	11	10	11	3	1	2	0	2	1	0	2	4	1	2	3	0	4	2	3	0	2	3			TCGA-HC-7736-01A-11D-2114-08	TCGA-HC-7736-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a89d72e-a967-40b5-a8eb-0d4ccd8615ce	ecc4491e-2c9a-4a6e-90a1-a0251fcf69aa	g.chr15:33938650C>T	ENST00000389232.4	+	29	3934	c.3864C>T	c.(3862-3864)tgC>tgT	p.C1288C	RYR3_ENST00000415757.3_Silent_p.C1288C	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	1288	4 X approximate repeats.|B30.2/SPRY 3. {ECO:0000255|PROSITE- ProRule:PRU00548}.				calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		TGATCTATTGCCGCTTGAGCA	0.537																																						ENST00000389232.4																			0				NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311						c.(3862-3864)tgC>tgT		ryanodine receptor 3							186	190	189					15																	33938650		2124	4249	6373	SO:0001819	synonymous_variant	6263				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr15:33938650C>T		CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"Ion channels / Ryanodine receptors", "EF-hand domain containing"	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.3864C>T	15.37:g.33938650C>T						RYR3_ENST00000415757.3_Silent_p.C1288C	p.C1288C	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)	29	3934	+		all_lung(180;7.18e-09)	1288			4 X approximate repeats.|B30.2/SPRY 3.		O15175|Q15412	Silent	SNP	ENST00000389232.4	37	c.3864C>T	CCDS45210.1																																																																																				0.537	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1			4	175	0	0	0	0.150653	0	4	175					T	33938650	C	T	33938650	2	4	210	1	0	0	0	0	0	0	0	1	13770	747	26	3		3	RYR3	15	33938650	Silent	SNP	C	TCGA-HC-7736-01A-11D-2114-08	4592242	33938650	68592742	27	9701											
A2BP1	54715	broad.mit.edu	37	chr16	7759095	7759095	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgccgacccctaccaccacGcacttgctccagcccccacc	7	5	5	24	2	0	0	0	0	0	0	1	1	1	0	9	0	4	2	9	0	1	2	rs150941982	byFrequency	TCGA-HC-7736-01A-11D-2114-08	TCGA-HC-7736-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a89d72e-a967-40b5-a8eb-0d4ccd8615ce	ecc4491e-2c9a-4a6e-90a1-a0251fcf69aa	g.chr16:7759095G>A	ENST00000550418.1	+	15	2021	c.1033G>A	c.(1033-1035)Gca>Aca	p.A345T	RBFOX1_ENST00000311745.5_Missense_Mutation_p.A366T|RBFOX1_ENST00000422070.4_Missense_Mutation_p.A388T|RBFOX1_ENST00000436368.2_Missense_Mutation_p.A366T|RBFOX1_ENST00000535565.2_Silent_p.T319T|RBFOX1_ENST00000355637.4_Silent_p.T383T|RBFOX1_ENST00000547372.1_Silent_p.T405T|RBFOX1_ENST00000547338.1_Missense_Mutation_p.A345T|RBFOX1_ENST00000553186.1_Missense_Mutation_p.A318T|RBFOX1_ENST00000340209.4_Missense_Mutation_p.A350T|RBFOX1_ENST00000552089.1_Silent_p.T379T	NM_018723.3	NP_061193.2	Q9NWB1	RFOX1_HUMAN	RNA binding protein, fox-1 homolog (C. elegans) 1	345					mRNA processing (GO:0006397)|neuromuscular process controlling balance (GO:0050885)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)|RNA transport (GO:0050658)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	nucleotide binding (GO:0000166)|protein C-terminus binding (GO:0008022)|RNA binding (GO:0003723)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|lung(17)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)	55						CTACCACCACGCACTTGCTCC	0.502													G|||	2	0.000399361	0.0015	0	5008	,	,		19342	0		0	False		,,,				2504	0				Ovarian(157;934 2567 15163 39509)	ENST00000340209.4																			0				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|lung(17)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)	55						c.(1048-1050)Gca>Aca		RNA binding protein, fox-1 homolog (C. elegans) 1		G	THR/ALA,THR/ALA,THR/ALA,THR/ALA,THR/ALA,	2,4392	4.2+/-10.8	0,2,2195	178	159	166		952,1033,1033,1096,1096,1149	3.4	1	16	dbSNP_134	166	0,8600		0,0,4300	no	missense,missense,missense,missense,missense,coding-synonymous	RBFOX1	NM_001142333.1,NM_001142334.1,NM_018723.3,NM_145891.2,NM_145892.2,NM_145893.2	58,58,58,58,58,	0,2,6495	AA,AG,GG		0.0,0.0455,0.0154	benign,benign,benign,benign,benign,	318/371,345/398,345/398,366/419,366/393,383/396	7759095	2,12992	2197	4300	6497	SO:0001583	missense	54715				mRNA processing|RNA splicing|RNA transport	nucleus|trans-Golgi network	nucleotide binding|protein C-terminus binding|RNA binding	g.chr16:7759095G>A	AF107203	CCDS10531.1, CCDS10532.1, CCDS45405.1, CCDS55983.1, CCDS55984.1	16p13.3	2013-02-12			ENSG00000078328	ENSG00000078328		"RNA binding motif (RRM) containing"	18222	protein-coding gene	gene with protein product	"ataxin 2-binding protein 1", "hexaribonucleotide binding protein 1"	605104				10814712, 16260614	Standard	NM_018723		Approved	A2BP1, FOX-1, HRNBP1	uc002cyy.2	Q9NWB1	OTTHUMG00000129551	ENST00000550418.1:c.1033G>A	16.37:g.7759095G>A	ENSP00000450031:p.Ala345Thr					RBFOX1_ENST00000422070.4_Missense_Mutation_p.A388T|RBFOX1_ENST00000355637.4_Silent_p.T383T|RBFOX1_ENST00000311745.5_Missense_Mutation_p.A366T|RBFOX1_ENST00000535565.2_Silent_p.T319T|RBFOX1_ENST00000436368.2_Missense_Mutation_p.A366T|RBFOX1_ENST00000553186.1_Missense_Mutation_p.A318T|RBFOX1_ENST00000547338.1_Missense_Mutation_p.A345T|RBFOX1_ENST00000552089.1_Silent_p.T379T|RBFOX1_ENST00000547372.1_Silent_p.T405T|RBFOX1_ENST00000550418.1_Missense_Mutation_p.A345T	p.A350T			Q9NWB1	RFOX1_HUMAN			12	1345	+			345					Q7Z7I7|Q8TAE3|Q8TAF2|Q8WYB2|Q9NS20	Missense_Mutation	SNP	ENST00000550418.1	37	c.1048G>A	CCDS55983.1	.	.	.	.	.	.	.	.	.	.	G	2.984	-0.209696	0.06140	4.55E-4	0.0	ENSG00000078328	ENST00000550418;ENST00000553186;ENST00000422070;ENST00000547338;ENST00000436368;ENST00000311745;ENST00000352951;ENST00000340209	T;T;T;T;T;T;T	0.34275	1.42;1.66;1.61;1.42;1.37;1.76;1.38	5.66	3.41	0.39046	.	0.231431	0.43416	N	0.000580	T	0.18045	0.0433	N	0.11427	0.14	0.29298	N	0.868915	B;B;B;B;B;B	0.17038	0.002;0.02;0.0;0.0;0.0;0.0	B;B;B;B;B;B	0.08055	0.002;0.003;0.001;0.002;0.002;0.001	T	0.18398	-1.0338	10	0.11794	T	0.64	-1.666	11.868	0.52505	0.9214:0.0:0.0786:0.0	.	339;388;366;366;318;345	F8WAC5;B7Z1U7;Q9NWB1-2;Q9NWB1-4;Q9NWB1-3;Q9NWB1	.;.;.;.;.;RFOX1_HUMAN	T	345;318;388;345;366;366;339;350	ENSP00000450031:A345T;ENSP00000447753:A318T;ENSP00000391269:A388T;ENSP00000447717:A345T;ENSP00000402745:A366T;ENSP00000309117:A366T;ENSP00000344196:A350T	ENSP00000309117:A366T	A	+	1	0	RBFOX1	7699096	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.362000	0.44169	0.386000	0.24997	-0.244000	0.11960	GCA		0.502	RBFOX1-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000409492.2	NM_145891		44	82	0	0	0	0.870114	0	44	82					A	7759095	G	A	7759095	3	1	210	1	0	0	0	0	1	0	0	0	3	1087	38	1	1274	1	A2BP1	16	7759095	Missense_Mutation	SNP	G	TCGA-HC-7736-01A-11D-2114-08		7759095	82595658	28	9702											
ABCC3	8714	broad.mit.edu	37	chr17	48761112	48761112	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	gtctgcatgtgcacggtggcGagaaggtacgcgtggggtag	7	8	19	7	4	1	1	0	0	1	1	1	2	1	1	0	5	3	4	0	5	3	2	rs191359602	byFrequency	TCGA-HC-7736-01A-11D-2114-08	TCGA-HC-7736-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a89d72e-a967-40b5-a8eb-0d4ccd8615ce	ecc4491e-2c9a-4a6e-90a1-a0251fcf69aa	g.chr17:48761112G>C	ENST00000285238.8	+	27	4029	c.3949G>C	c.(3949-3951)Gag>Cag	p.E1317Q		NM_003786.3	NP_003777.2	O15438	MRP3_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 3	1317	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33			BRCA - Breast invasive adenocarcinoma(22;3.05e-09)		Cisplatin(DB00515)|Clotrimazole(DB00257)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Doxorubicin(DB00997)|Etoposide(DB00773)|Ezetimibe(DB00973)|Fluorouracil(DB00544)|Folic Acid(DB00158)|Gadoxetate(DB08884)|Glutathione(DB00143)|Glyburide(DB01016)|Indomethacin(DB00328)|Lamivudine(DB00709)|Leucovorin(DB00650)|Methotrexate(DB00563)|Metyrapone(DB01011)|Nifedipine(DB01115)|Omeprazole(DB00338)|Phenobarbital(DB01174)|Probenecid(DB01032)|Rifampicin(DB01045)|Sulfinpyrazone(DB01138)|Verapamil(DB00661)|Vincristine(DB00541)	GCACGGTGGCGAGAAGGTACG	0.622																																						ENST00000285238.8																			0				breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33						c.(3949-3951)Gag>Cag		ATP-binding cassette, sub-family C (CFTR/MRP), member 3	Glibenclamide(DB01016)						123	116	118					17																	48761112		2203	4300	6503	SO:0001583	missense	8714				bile acid metabolic process	integral to plasma membrane|membrane fraction	ATP binding|bile acid-exporting ATPase activity|organic anion transmembrane transporter activity	g.chr17:48761112G>C	Y17151	CCDS32681.1, CCDS45739.1	17q21	2012-03-14			ENSG00000108846	ENSG00000108846		"ATP binding cassette transporters / subfamily C"	54	protein-coding gene	gene with protein product	"canalicular multispecific organic anion transporter 2"	604323				8894702, 9827529	Standard	NM_003786		Approved	MRP3, cMOAT2, EST90757, MLP2, MOAT-D	uc002isl.3	O15438	OTTHUMG00000162245	ENST00000285238.8:c.3949G>C	17.37:g.48761112G>C	ENSP00000285238:p.Glu1317Gln						p.E1317Q	NM_003786.3	NP_003777.2	O15438	MRP3_HUMAN	BRCA - Breast invasive adenocarcinoma(22;3.05e-09)		27	4029	+			1317			ABC transporter 2.		B2RPA9|D3DTX9|O60265|O60922|O75621|O95078|O95289|O95290|Q86X85|Q9UN52	Missense_Mutation	SNP	ENST00000285238.8	37	c.3949G>C	CCDS32681.1	.	.	.	.	.	.	.	.	.	.	g	25.7	4.668941	0.88348	.	.	ENSG00000108846	ENST00000285238	D	0.94687	-3.49	5.79	5.79	0.91817	ATPase, AAA+ type, core (1);ABC transporter-like (1);	0.000000	0.85682	D	0.000000	D	0.95909	0.8668	L	0.37800	1.135	0.80722	D	1	D	0.89917	1.0	D	0.75484	0.986	D	0.96008	0.8999	10	0.62326	D	0.03	-35.4308	20.0459	0.97607	0.0:0.0:1.0:0.0	.	1317	O15438	MRP3_HUMAN	Q	1317	ENSP00000285238:E1317Q	ENSP00000285238:E1317Q	E	+	1	0	ABCC3	46116111	1.000000	0.71417	0.980000	0.43619	0.745000	0.42441	9.790000	0.99075	2.751000	0.94390	0.651000	0.88453	GAG		0.622	ABCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368083.2	NM_020038		37	94	0	0	0	0.804634	0	37	94					C	48761112	G	C	48761112	3	2	210	1	0	0	0	0	1	0	0	0	54	1059	37	5	4139	5	ABCC3	17	48761112	Missense_Mutation	SNP	G	TCGA-HC-7736-01A-11D-2114-08		48761112	32434098	29	9703											
PIWIL3	440822	broad.mit.edu	37	chr22	25155922	25155922	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggacttcctcctgcagcggcCggggtgtcgactgcaactga	6	8	14	13	3	0	1	0	1	0	0	3	3	2	2	3	4	4	2	3	4	1	1	rs138064276		TCGA-HC-7736-01A-11D-2114-08	TCGA-HC-7736-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a89d72e-a967-40b5-a8eb-0d4ccd8615ce	ecc4491e-2c9a-4a6e-90a1-a0251fcf69aa	g.chr22:25155922C>T	ENST00000332271.5	-	3	553	c.137G>A	c.(136-138)cGg>cAg	p.R46Q	PIWIL3_ENST00000532537.2_5'UTR|PIWIL3_ENST00000533313.1_5'UTR|PIWIL3_ENST00000527701.1_5'UTR	NM_001008496.3|NM_001255975.1	NP_001008496.2|NP_001242904.1	Q7Z3Z3	PIWL3_HUMAN	piwi-like RNA-mediated gene silencing 3	46					cell differentiation (GO:0030154)|gene silencing by RNA (GO:0031047)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|regulation of translation (GO:0006417)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)	RNA binding (GO:0003723)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(15)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						CTGCAGCGGCCGGGGTGTCGA	0.547													C|||	1	0.000199681	8e-04	0	5008	,	,		18472	0		0	False		,,,				2504	0					ENST00000332271.5																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(15)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						c.(136-138)cGg>cAg		piwi-like RNA-mediated gene silencing 3		C	GLN/ARG	2,4404	4.2+/-10.8	0,2,2201	186	193	191		137	-1	0	22	dbSNP_134	191	0,8600		0,0,4300	yes	missense	PIWIL3	NM_001008496.2	43	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	benign	46/883	25155922	2,13004	2203	4300	6503	SO:0001583	missense	440822				cell differentiation|gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatogenesis	cytoplasm	RNA binding	g.chr22:25155922C>T	AB079368	CCDS33623.1	22q11.23	2013-02-15	2013-02-15		ENSG00000184571	ENSG00000184571		"Argonaute/PIWI family"	18443	protein-coding gene	gene with protein product		610314	"piwi-like 3 (Drosophila)"			12906857	Standard	NM_001008496		Approved	HIWI3	uc003abd.2	Q7Z3Z3	OTTHUMG00000150788	ENST00000332271.5:c.137G>A	22.37:g.25155922C>T	ENSP00000330031:p.Arg46Gln					PIWIL3_ENST00000532537.2_5'UTR|PIWIL3_ENST00000527701.1_5'UTR|PIWIL3_ENST00000533313.1_5'UTR	p.R46Q	NM_001008496.3|NM_001255975.1	NP_001008496.2|NP_001242904.1	Q7Z3Z3	PIWL3_HUMAN			3	553	-			46						Missense_Mutation	SNP	ENST00000332271.5	37	c.137G>A	CCDS33623.1	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	C	6.661	0.490561	0.12702	4.54E-4	0.0	ENSG00000184571	ENST00000332271	T	0.04454	3.62	2.52	-0.992	0.10232	.	3.875600	0.01013	N	0.003865	T	0.03136	0.0092	N	0.13098	0.295	0.09310	N	0.999997	B;B	0.17038	0.01;0.02	B;B	0.08055	0.001;0.003	T	0.39840	-0.9594	10	0.10111	T	0.7	2.0542	5.9161	0.19055	0.0:0.469:0.0:0.531	.	46;46	B4DYF7;Q7Z3Z3	.;PIWL3_HUMAN	Q	46	ENSP00000330031:R46Q	ENSP00000330031:R46Q	R	-	2	0	PIWIL3	23485922	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.014000	0.03641	-0.321000	0.08627	-0.768000	0.03414	CGG		0.547	PIWIL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320084.2	NM_001008496		116	250	0	0	0	0.870114	0	116	250					T	25155922	C	T	25155922	3	4	210	1	0	0	0	0	1	0	0	0	11959	652	23	2	2587	2	PIWIL3	22	25155922	Missense_Mutation	SNP	C	TCGA-HC-7736-01A-11D-2114-08		25155922	26148644	30	9704											
BRD1	23774	broad.mit.edu	37	chr22	50167946	50167946	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gctcaggtggttcatggcgcGgtcaaaagcgatccgcacgg	8	7	15	11	5	3	0	3	0	0	0	4	1	4	0	1	5	1	3	1	5	2	1			TCGA-HC-7736-01A-11D-2114-08	TCGA-HC-7736-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a89d72e-a967-40b5-a8eb-0d4ccd8615ce	ecc4491e-2c9a-4a6e-90a1-a0251fcf69aa	g.chr22:50167946G>A	ENST00000216267.8	-	12	3598	c.3112C>T	c.(3112-3114)Cgc>Tgc	p.R1038C	BRD1_ENST00000404760.1_Missense_Mutation_p.R1169C|BRD1_ENST00000342989.5_Missense_Mutation_p.R764C|BRD1_ENST00000457780.2_3'UTR|BRD1_ENST00000404034.1_Missense_Mutation_p.R1038C|BRD1_ENST00000542442.1_Missense_Mutation_p.R726C	NM_014577.1	NP_055392.1	O95696	BRD1_HUMAN	bromodomain containing 1	1038					histone H3 acetylation (GO:0043966)	MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleus (GO:0005634)	histone binding (GO:0042393)|zinc ion binding (GO:0008270)			endometrium(6)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	37		all_cancers(38;6.11e-10)|all_epithelial(38;8.06e-09)|all_lung(38;6.64e-05)|Lung NSC(38;0.0011)|Breast(42;0.00235)|Ovarian(80;0.0139)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0369)|BRCA - Breast invasive adenocarcinoma(115;0.21)		TTCATGGCGCGGTCAAAAGCG	0.577																																						ENST00000216267.8																			0				endometrium(6)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	37						c.(3112-3114)Cgc>Tgc		bromodomain containing 1							132	130	130					22																	50167946		2203	4300	6503	SO:0001583	missense	23774				histone H3 acetylation	MOZ/MORF histone acetyltransferase complex	zinc ion binding	g.chr22:50167946G>A	AF005067	CCDS14080.1	22q13.33	2008-07-01	2002-01-14		ENSG00000100425	ENSG00000100425			1102	protein-coding gene	gene with protein product	"BR140-like"	604589	"bromodomain-containing 1"			10591208, 10602503	Standard	NM_014577		Approved	BRL, BRPF2	uc003biv.3	O95696	OTTHUMG00000150288	ENST00000216267.8:c.3112C>T	22.37:g.50167946G>A	ENSP00000216267:p.Arg1038Cys					BRD1_ENST00000342989.5_Missense_Mutation_p.R764C|BRD1_ENST00000457780.2_3'UTR|BRD1_ENST00000404760.1_Missense_Mutation_p.R1169C|BRD1_ENST00000542442.1_Missense_Mutation_p.R726C|BRD1_ENST00000404034.1_Missense_Mutation_p.R1038C	p.R1038C	NM_014577.1	NP_055392.1	O95696	BRD1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.0369)|BRCA - Breast invasive adenocarcinoma(115;0.21)	12	3598	-		all_cancers(38;6.11e-10)|all_epithelial(38;8.06e-09)|all_lung(38;6.64e-05)|Lung NSC(38;0.0011)|Breast(42;0.00235)|Ovarian(80;0.0139)|Lung SC(80;0.164)	1038					A6ZJA4	Missense_Mutation	SNP	ENST00000216267.8	37	c.3112C>T	CCDS14080.1	.	.	.	.	.	.	.	.	.	.	G	12.93	2.086445	0.36855	.	.	ENSG00000100425	ENST00000216267;ENST00000404034;ENST00000404760;ENST00000542442;ENST00000342989;ENST00000419212	T;T;T;T;T	0.31247	1.5;1.5;1.5;1.5;1.5	4.89	3.85	0.44370	.	0.000000	0.85682	D	0.000000	T	0.53222	0.1783	M	0.73217	2.22	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.997;0.994;0.965;0.998	T	0.53767	-0.8392	10	0.38643	T	0.18	.	14.6564	0.68835	0.0:0.0:0.853:0.147	.	1169;764;1038;1169	Q86X06;B7Z926;O95696;O95696-2	.;.;BRD1_HUMAN;.	C	1038;1038;1169;726;764;629	ENSP00000216267:R1038C;ENSP00000384076:R1038C;ENSP00000385858:R1169C;ENSP00000437514:R726C;ENSP00000345886:R764C	ENSP00000216267:R1038C	R	-	1	0	BRD1	48553950	1.000000	0.71417	0.962000	0.40283	0.169000	0.22640	9.458000	0.97634	1.161000	0.42604	0.655000	0.94253	CGC		0.577	BRD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317402.1	NM_014577		4	196	0	0	0	0.150653	0	4	196					A	50167946	G	A	50167946	3	1	210	1	0	0	0	0	1	0	0	0	1501	1116	39	2	68	2	BRD1	22	50167946	Missense_Mutation	SNP	G	TCGA-HC-7736-01A-11D-2114-08	25012024	50167946	1136620	31	9705											
PFKFB1	5207	broad.mit.edu	37	chrX	54989709	54989709	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cctttagttggtgttcctatCcagttgagatatcgtgtgag	7	16	11	7	1	0	2	0	2	0	1	3	3	2	2	3	1	0	3	3	1	3	7			TCGA-HC-7736-01A-11D-2114-08	TCGA-HC-7736-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a89d72e-a967-40b5-a8eb-0d4ccd8615ce	ecc4491e-2c9a-4a6e-90a1-a0251fcf69aa	g.chrX:54989709C>T	ENST00000375006.3	-	2	274	c.204G>A	c.(202-204)tgG>tgA	p.W68*	PFKFB1_ENST00000374992.2_Nonsense_Mutation_p.W68*|PFKFB1_ENST00000545676.1_Intron	NM_002625.2	NP_002616.2	P16118	F261_HUMAN	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1	68	6-phosphofructo-2-kinase.				carbohydrate metabolic process (GO:0005975)|dephosphorylation (GO:0016311)|energy reserve metabolic process (GO:0006112)|fructose 2,6-bisphosphate metabolic process (GO:0006003)|fructose metabolic process (GO:0006000)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|intracellular signal transduction (GO:0035556)|organ regeneration (GO:0031100)|positive regulation of glucokinase activity (GO:0033133)|response to cAMP (GO:0051591)|response to glucagon (GO:0033762)|response to glucocorticoid (GO:0051384)|response to insulin (GO:0032868)|response to starvation (GO:0042594)|small molecule metabolic process (GO:0044281)	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase complex (GO:0043540)|cytosol (GO:0005829)	6-phosphofructo-2-kinase activity (GO:0003873)|ATP binding (GO:0005524)|fructose-2,6-bisphosphate 2-phosphatase activity (GO:0004331)|fructose-6-phosphate binding (GO:0070095)			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(11)|ovary(1)	24						GTGTTCCTATCCAGTTGAGAT	0.453																																						ENST00000375006.3																			0				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(11)|ovary(1)	24						c.(202-204)tgG>tgA		6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1							242	196	212					X																	54989709		2203	4300	6503	SO:0001587	stop_gained	5207				energy reserve metabolic process|fructose 2,6-bisphosphate metabolic process|gluconeogenesis|glycolysis|intracellular protein kinase cascade	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1 complex	6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity|identical protein binding	g.chrX:54989709C>T		CCDS14364.1, CCDS65273.1	Xp11.21	2012-07-13			ENSG00000158571	ENSG00000158571	2.7.1.105, 3.1.3.46		8872	protein-coding gene	gene with protein product		311790		PFRX		9119406	Standard	NM_002625		Approved		uc004dty.2	P16118	OTTHUMG00000021643	ENST00000375006.3:c.204G>A	X.37:g.54989709C>T	ENSP00000364145:p.Trp68*					PFKFB1_ENST00000545676.1_Intron|PFKFB1_ENST00000374992.2_Nonsense_Mutation_p.W68*	p.W68*	NM_002625.2	NP_002616.2	P16118	F261_HUMAN			2	274	-			68			6-phosphofructo-2-kinase.		B2RA88|B4DUN5|Q5JXS5|Q99951	Nonsense_Mutation	SNP	ENST00000375006.3	37	c.204G>A	CCDS14364.1	.	.	.	.	.	.	.	.	.	.	C	36	5.906905	0.97093	.	.	ENSG00000158571	ENST00000375006;ENST00000374992	.	.	.	5.51	4.64	0.57946	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.39692	T	0.17	-8.1157	12.4111	0.55468	0.0:0.9148:0.0:0.0852	.	.	.	.	X	68	.	ENSP00000364131:W68X	W	-	3	0	PFKFB1	55006434	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.636000	0.67848	1.209000	0.43321	0.600000	0.82982	TGG		0.453	PFKFB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056847.1			58	51	0	0	0	0.870114	0	58	51					T	54989709	C	T	54989709	4	4	210	1	0	0	0	0	0	1	0	0	11760	856	30	3	1263	3	PFKFB1	23	54989709	Nonsense_Mutation	SNP	C	TCGA-HC-7736-01A-11D-2114-08		54989709	100280851	32	9706											
TAGLN2	8407	broad.mit.edu	37	chr1	159889625	159889625	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	attaatgagctcacatagcaCctggatgaggacagcagggg	13	7	13	8	0	1	2	1	2	0	0	1	4	1	4	1	4	3	3	1	4	2	2			TCGA-HC-7737-01A-11D-2114-08	TCGA-HC-7737-11A-02D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf98acc-736b-4af6-bdca-a320a413165a	4adefa84-9ffb-4efe-9a7f-bf1e307f6932	g.chr1:159889625C>T	ENST00000368097.4	-	3	491	c.181G>A	c.(181-183)Gtg>Atg	p.V61M	TAGLN2_ENST00000368096.1_Splice_Site_p.V82M|TAGLN2_ENST00000478033.1_5'UTR|TAGLN2_ENST00000320307.4_Splice_Site_p.V61M	NM_001277223.1|NM_003564.1	NP_001264152.1|NP_003555.1	P37802	TAGL2_HUMAN	transgelin 2	61	CH. {ECO:0000255|PROSITE- ProRule:PRU00044}.				epithelial cell differentiation (GO:0030855)	extracellular vesicular exosome (GO:0070062)|vesicle (GO:0031982)				endometrium(1)|large_intestine(2)|lung(6)	9	all_hematologic(112;0.0597)		BRCA - Breast invasive adenocarcinoma(70;0.111)			TCACATAGCACCTGGATGAGG	0.552																																						ENST00000368097.4																			0				endometrium(1)|large_intestine(2)|lung(6)	9						c.e3-1		transgelin 2							145	132	137					1																	159889625		2203	4300	6503	SO:0001630	splice_region_variant	8407				muscle organ development	nuclear membrane|plasma membrane	protein binding	g.chr1:159889625C>T	D21261	CCDS1189.1, CCDS60314.1	1q21-q25	2008-07-18			ENSG00000158710	ENSG00000158710			11554	protein-coding gene	gene with protein product	"SM22-alpha homolog"	604634				9693045	Standard	NM_001277223		Approved	KIAA0120, HA1756	uc031pqu.1	P37802	OTTHUMG00000022793	ENST00000368097.4:c.181-1G>A	1.37:g.159889625C>T						TAGLN2_ENST00000320307.4_Splice_Site_p.V61_splice|TAGLN2_ENST00000478033.1_5'UTR|TAGLN2_ENST00000368096.1_Splice_Site_p.V82_splice	p.V61_splice	NM_001277223.1|NM_003564.1	NP_001264152.1|NP_003555.1	P37802	TAGL2_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)		3	491	-	all_hematologic(112;0.0597)		61			CH.		E9KL39|Q5JRQ6|Q5JRQ7|Q6FGI1|Q9BUH5|Q9H4P0	Splice_Site	SNP	ENST00000368097.4	37	c.180_splice	CCDS1189.1	.	.	.	.	.	.	.	.	.	.	C	18.91	3.724542	0.68959	.	.	ENSG00000158710	ENST00000368097;ENST00000368096;ENST00000320307;ENST00000397334	D;D;D;D	0.95622	-3.76;-3.76;-3.76;-3.76	5.09	5.09	0.68999	Calponin homology domain (5);	0.000000	0.44285	U	0.000467	D	0.97804	0.9279	M	0.88979	2.995	0.58432	D	0.999996	D	0.76494	0.999	D	0.77004	0.989	D	0.98160	1.0446	9	.	.	.	-23.7368	16.3498	0.83199	0.0:1.0:0.0:0.0	.	61	P37802	TAGL2_HUMAN	M	61;82;61;61	ENSP00000357077:V61M;ENSP00000357076:V82M;ENSP00000357075:V61M;ENSP00000412429:V61M	.	V	-	1	0	TAGLN2	158156249	1.000000	0.71417	1.000000	0.80357	0.835000	0.47333	1.729000	0.38115	2.525000	0.85131	0.655000	0.94253	GTG		0.552	TAGLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059105.1	NM_003564	Missense_Mutation	29	112	0	0	0	1	0	29	112					T	159889625	C	T	159889625	5	4	211	1	0	0	0	0	0	0	1	0	15536	521	18	3	430	3	TAGLN2	1	159889625	Splice_Site	SNP	C	TCGA-HC-7737-01A-11D-2114-08		159889625	89360996	1	9707											
IGSF9	57549	broad.mit.edu	37	chr1	159899709	159899709	+	Frame_Shift_Del	DEL	G	G	-																															gagacgttggccgtgttgctGgggtcgctgacgaagctgcc																										TCGA-HC-7737-01A-11D-2114-08	TCGA-HC-7737-11A-02D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf98acc-736b-4af6-bdca-a320a413165a	4adefa84-9ffb-4efe-9a7f-bf1e307f6932	g.chr1:159899709delG	ENST00000368094.1	-	16	2318	c.2121delC	c.(2119-2121)cccfs	p.P707fs	IGSF9_ENST00000493195.1_5'UTR|IGSF9_ENST00000361509.3_Frame_Shift_Del_p.P691fs	NM_001135050.1	NP_001128522.1	Q9P2J2	TUTLA_HUMAN	immunoglobulin superfamily, member 9	707	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				dendrite development (GO:0016358)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synapse (GO:0045202)				central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(17)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_hematologic(112;0.0597)	Breast(1374;0.000126)	BRCA - Breast invasive adenocarcinoma(70;0.111)			CCGTGTTGCTGGGGTCGCTGA	0.672																																						ENST00000368094.1																			0				central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(17)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	56						c.(2119-2121)ccfs		immunoglobulin superfamily, member 9							28	28	28					1																	159899709		2191	4291	6482	SO:0001589	frameshift_variant	57549					cell junction|integral to membrane|synapse		g.chr1:159899709delG	AB037776	CCDS1190.1, CCDS44254.1	1q22-q23	2013-02-11			ENSG00000085552	ENSG00000085552		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	18132	protein-coding gene	gene with protein product		609738				11991715	Standard	NM_020789		Approved	KIAA1355, Nrt1, IGSF9A	uc001fur.2	Q9P2J2	OTTHUMG00000022794	ENST00000368094.1:c.2121delC	1.37:g.159899709delG	ENSP00000357073:p.Pro707fs					IGSF9_ENST00000361509.3_Frame_Shift_Del_p.P691fs|IGSF9_ENST00000493195.1_5'UTR	p.P707fs	NM_001135050.1	NP_001128522.1	Q9P2J2	TUTLA_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)		16	2318	-	all_hematologic(112;0.0597)	Breast(1374;0.000126)	707			Fibronectin type-III 2.			Frame_Shift_Del	DEL	ENST00000368094.1	37	c.2121delC	CCDS44254.1																																																																																				0.672	IGSF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059115.1	NM_020789		2	4						2	4	---	---	---	---	-	159899709	G	-	159899709	7	5	211	1	0	1	0	1	0	0	0	0	7605	1335	47	0	1442	0	IGSF9	1	159899709	Frame_Shift_Del	DEL	G	TCGA-HC-7737-01A-11D-2114-08	10084	159899709	89350912	2	9708											
TMCC2	9911	broad.mit.edu	37	chr1	205240957	205240957	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaggaggccgtggagtcctGcctgacccgggtcaccaagc	7	5	15	14	2	1	1	1	1	0	0	2	3	2	3	5	4	2	1	5	4	1	0			TCGA-HC-7737-01A-11D-2114-08	TCGA-HC-7737-11A-02D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf98acc-736b-4af6-bdca-a320a413165a	4adefa84-9ffb-4efe-9a7f-bf1e307f6932	g.chr1:205240957G>T	ENST00000358024.3	+	5	2224	c.1835G>T	c.(1834-1836)tGc>tTc	p.C612F	TMCC2_ENST00000329800.7_Missense_Mutation_p.C372F|TMCC2_ENST00000495538.1_3'UTR|TMCC2_ENST00000330675.7_Missense_Mutation_p.C387F|TMCC2_ENST00000545499.1_Missense_Mutation_p.C534F	NM_014858.3	NP_055673.2	O75069	TMCC2_HUMAN	transmembrane and coiled-coil domain family 2	612						integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(3)|pancreas(1)|skin(1)|urinary_tract(1)	20	Breast(84;0.0871)		BRCA - Breast invasive adenocarcinoma(75;0.117)			GTGGAGTCCTGCCTGACCCGG	0.657																																						ENST00000358024.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(3)|pancreas(1)|skin(1)|urinary_tract(1)	20						c.(1834-1836)tGc>tTc		transmembrane and coiled-coil domain family 2							49	51	50					1																	205240957		2203	4300	6503	SO:0001583	missense	9911					integral to membrane	protein binding	g.chr1:205240957G>T	AB001596	CCDS30984.1, CCDS55676.1, CCDS73010.1	1q32.1	2008-02-05	2005-07-13		ENSG00000133069	ENSG00000133069		"Transmembrane and coiled-coil domain containing"	24239	protein-coding gene	gene with protein product			"transmembrane and coiled-coil domains 2"			9455484	Standard	NM_014858		Approved	HUCEP11, FLJ38497	uc021pia.1	O75069	OTTHUMG00000037195	ENST00000358024.3:c.1835G>T	1.37:g.205240957G>T	ENSP00000350718:p.Cys612Phe					TMCC2_ENST00000545499.1_Missense_Mutation_p.C534F|TMCC2_ENST00000495538.1_3'UTR|TMCC2_ENST00000330675.7_Missense_Mutation_p.C387F|TMCC2_ENST00000329800.7_Missense_Mutation_p.C372F	p.C612F	NM_014858.3	NP_055673.2	O75069	TMCC2_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.117)		5	2224	+	Breast(84;0.0871)		612					A2RRH3|B7Z1P7|Q6ZN09	Missense_Mutation	SNP	ENST00000358024.3	37	c.1835G>T	CCDS30984.1	.	.	.	.	.	.	.	.	.	.	G	26.2	4.711367	0.89112	.	.	ENSG00000133069	ENST00000358024;ENST00000545499;ENST00000330675;ENST00000329800	T;T;T;T	0.46819	0.86;0.86;0.86;0.86	5.43	5.43	0.79202	.	0.092605	0.85682	D	0.000000	T	0.64505	0.2604	L	0.56340	1.77	0.80722	D	1	D;D;D	0.89917	0.998;0.999;1.0	D;D;D	0.91635	0.966;0.98;0.999	T	0.55496	-0.8132	10	0.23302	T	0.38	.	19.0206	0.92912	0.0:0.0:1.0:0.0	.	372;387;612	G5E963;B2RAX5;O75069	.;.;TMCC2_HUMAN	F	612;534;387;372	ENSP00000350718:C612F;ENSP00000437943:C534F;ENSP00000331842:C387F;ENSP00000329436:C372F	ENSP00000329436:C372F	C	+	2	0	TMCC2	203507580	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.623000	0.98386	2.824000	0.97209	0.655000	0.94253	TGC		0.657	TMCC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000090383.1	NM_014858		3	69	1	0	1	1	1	3	69					T	205240957	G	T	205240957	3	4	211	1	0	0	0	0	1	0	0	0	15990	1319	46	5	1853	5	TMCC2	1	205240957	Missense_Mutation	SNP	G	TCGA-HC-7737-01A-11D-2114-08	45341248	205240957	44009664	3	9709											
DIRC1	116093	broad.mit.edu	37	chr2	189599335	189599335	+	Nonstop_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agcagcagggcattgtaattAggtaaggcttagttggttta	11	13	13	4	0	0	0	0	0	0	0	0	0	0	0	0	4	2	8	0	4	5	8			TCGA-HC-7737-01A-11D-2114-08	TCGA-HC-7737-11A-02D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf98acc-736b-4af6-bdca-a320a413165a	4adefa84-9ffb-4efe-9a7f-bf1e307f6932	g.chr2:189599335A>G	ENST00000308100.4	-	2	583	c.313T>C	c.(313-315)Taa>Caa	p.*105Q	AC079613.1_ENST00000431708.1_RNA	NM_052952.2	NP_443184.1	Q969H9	DIRC1_HUMAN	disrupted in renal carcinoma 1	0										large_intestine(1)|lung(6)	7			OV - Ovarian serous cystadenocarcinoma(117;0.00842)|Epithelial(96;0.102)			CATTGTAATTAGGTAAGGCTT	0.373																																						ENST00000308100.4																			0				large_intestine(1)|lung(6)	7						c.(313-315)Taa>Caa		disrupted in renal carcinoma 1							138	144	142					2																	189599335		2203	4300	6503	SO:0001578	stop_lost	116093							g.chr2:189599335A>G	AY039011	CCDS2296.1	2q33	2008-05-22			ENSG00000174325	ENSG00000174325			15760	protein-coding gene	gene with protein product		606423				11587072	Standard	NM_052952		Approved		uc002uqi.1	Q969H9	OTTHUMG00000132646	ENST00000308100.4:c.313T>C	2.37:g.189599335A>G	ENSP00000307860:p.*105Gluext*29					AC079613.1_ENST00000431708.1_RNA	p.*105Q	NM_052952.2	NP_443184.1	Q969H9	DIRC1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00842)|Epithelial(96;0.102)		2	583	-			0					Q08AK1	Nonstop_Mutation	SNP	ENST00000308100.4	37	c.313T>C	CCDS2296.1	.	.	.	.	.	.	.	.	.	.	A	0.715	-0.785688	0.02907	.	.	ENSG00000174325	ENST00000308100	.	.	.	2.5	-1.55	0.08558	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.9148	0.05749	0.451:0.2458:0.3033:0.0	.	.	.	.	Q	105	.	.	X	-	1	0	DIRC1	189307580	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	-0.227000	0.09126	-0.364000	0.08088	0.533000	0.62120	TAA		0.373	DIRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255897.2	NM_052952		4	118	0	0	0	1	0	4	118					G	189599335	A	G	189599335	4	3	211	1	0	0	0	0	0	0	0	0	4533	433	15	4	5	4	DIRC1	2	189599335	Nonstop_Mutation	SNP	A	TCGA-HC-7737-01A-11D-2114-08		189599335	53600038	4	9710											
GALNTL2	117248	broad.mit.edu	37	chr3	16261011	16261011	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtctaccctgagctgtacccAtctgaacccaggcccagttt	8	10	8	15	0	2	2	0	2	2	0	2	2	2	2	4	1	4	3	4	1	3	3			TCGA-HC-7737-01A-11D-2114-08	TCGA-HC-7737-11A-02D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf98acc-736b-4af6-bdca-a320a413165a	4adefa84-9ffb-4efe-9a7f-bf1e307f6932	g.chr3:16261011A>G	ENST00000339732.5	+	7	1997	c.1494A>G	c.(1492-1494)ccA>ccG	p.P498P	GALNT15_ENST00000437509.1_Silent_p.P498P	NM_054110.4	NP_473451.3	Q8N3T1	GLT15_HUMAN	polypeptide N-acetylgalactosaminyltransferase 15	498					cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|transport vesicle (GO:0030133)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)										AGCTGTACCCATCTGAACCCA	0.537																																						ENST00000339732.5																			0											c.(1492-1494)ccA>ccG		UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 15							239	222	228					3																	16261011		2203	4300	6503	SO:0001819	synonymous_variant	117248							g.chr3:16261011A>G	AY358443	CCDS33711.1	3p25.1	2014-03-13	2014-03-13	2013-01-25	ENSG00000131386	ENSG00000131386	2.4.1.41	"Glycosyltransferase family 2 domain containing"	21531	protein-coding gene	gene with protein product	"polypeptide GalNAc transferase 15"	615131	"UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 2", "UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 15"	GALNTL2		12975309, 14702039, 15147861	Standard	NM_054110		Approved	GALNT7, pp-GalNAc-T15	uc003car.4	Q8N3T1	OTTHUMG00000156893	ENST00000339732.5:c.1494A>G	3.37:g.16261011A>G						GALNT15_ENST00000437509.1_Silent_p.P498P	p.P498P	NM_054110.4	NP_473451.3					7	1997	+								A6NMN1|B2R638|F1LIP6|Q86T60|Q96C46|Q96DJ5	Silent	SNP	ENST00000339732.5	37	c.1494A>G	CCDS33711.1																																																																																				0.537	GALNT15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346483.2	NM_054110		37	254	0	0	0	1	0	37	254					G	16261011	A	G	16261011	2	3	211	1	0	0	0	0	0	0	0	1	6222	204	8	4		4	GALNTL2	3	16261011	Silent	SNP	A	TCGA-HC-7737-01A-11D-2114-08		16261011	181761419	5	9711											
GABRB1	2560	broad.mit.edu	37	chr4	47408857	47408857	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cctttgtaaattacatcttcTttgggaaaggccctcagaaa	12	13	7	9	0	3	1	1	0	2	1	3	2	3	2	2	2	1	1	2	2	5	5			TCGA-HC-7737-01A-11D-2114-08	TCGA-HC-7737-11A-02D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf98acc-736b-4af6-bdca-a320a413165a	4adefa84-9ffb-4efe-9a7f-bf1e307f6932	g.chr4:47408857T>A	ENST00000295454.3	+	8	1286	c.994T>A	c.(994-996)Ttt>Att	p.F332I	GABRB1_ENST00000538619.1_Missense_Mutation_p.F262I	NM_000812.3	NP_000803.2	P18505	GBRB1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 1	332					cellular response to histamine (GO:0071420)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|GABA-A receptor complex (GO:1902711)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)|ligand-gated ion channel activity (GO:0015276)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44					Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Gamma Hydroxybutyric Acid(DB01440)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lindane(DB00431)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	TTACATCTTCTTTGGGAAAGG	0.393																																						ENST00000295454.3																			0				central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						c.(994-996)Ttt>Att		gamma-aminobutyric acid (GABA) A receptor, beta 1	Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)						149	146	147					4																	47408857		2203	4300	6503	SO:0001583	missense	2560				synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chr4:47408857T>A		CCDS3474.1	4p12	2012-06-22			ENSG00000163288	ENSG00000163288		"GABA receptors", "Ligand-gated ion channels / GABA(A) receptors"	4081	protein-coding gene	gene with protein product	"GABA(A) receptor, beta 1"	137190					Standard	NM_000812		Approved		uc003gxh.3	P18505	OTTHUMG00000044269	ENST00000295454.3:c.994T>A	4.37:g.47408857T>A	ENSP00000295454:p.Phe332Ile					GABRB1_ENST00000538619.1_Missense_Mutation_p.F262I	p.F332I	NM_000812.3	NP_000803.2	P18505	GBRB1_HUMAN			8	1286	+			332					B2R6U7|D6REL3|Q16166|Q8TBK3	Missense_Mutation	SNP	ENST00000295454.3	37	c.994T>A	CCDS3474.1	.	.	.	.	.	.	.	.	.	.	T	19.56	3.850031	0.71603	.	.	ENSG00000163288	ENST00000295454;ENST00000538619	D;D	0.85411	-1.98;-1.98	4.74	4.74	0.60224	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.214476	0.31199	N	0.008079	D	0.90359	0.6983	M	0.64404	1.975	0.80722	D	1	B;D	0.62365	0.264;0.991	B;D	0.78314	0.111;0.991	D	0.90118	0.4197	10	0.44086	T	0.13	-15.09	14.0816	0.64925	0.0:0.0:0.0:1.0	.	262;332	F5GXV5;P18505	.;GBRB1_HUMAN	I	332;262	ENSP00000295454:F332I;ENSP00000440330:F262I	ENSP00000295454:F332I	F	+	1	0	GABRB1	47103614	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.868000	0.87116	1.995000	0.58328	0.383000	0.25322	TTT		0.393	GABRB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216896.1			3	29	0	0	0	1	0	3	29					A	47408857	T	A	47408857	3	1	211	1	0	0	0	0	1	0	0	0	6166	1609	56	5	1024	5	GABRB1	4	47408857	Missense_Mutation	SNP	T	TCGA-HC-7737-01A-11D-2114-08		47408857	143745419	6	9712											
FIP1L1	81608	broad.mit.edu	37	chr4	54325595	54325596	+	Frame_Shift_Ins	INS	-	-	G																															cccctgaacaggagagcaccINSgaagctacacctgcagaata																										TCGA-HC-7737-01A-11D-2114-08	TCGA-HC-7737-11A-02D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf98acc-736b-4af6-bdca-a320a413165a	4adefa84-9ffb-4efe-9a7f-bf1e307f6932	g.chr4:54325595_54325596insG	ENST00000337488.6	+	18	1958_1959	c.1764_1765insG	c.(1765-1767)gaafs	p.E589fs	FIP1L1_ENST00000507166.1_Intron|FIP1L1_ENST00000306932.6_Frame_Shift_Ins_p.E515fs|FIP1L1_ENST00000358575.5_Frame_Shift_Ins_p.E583fs|LNX1_ENST00000306888.2_3'UTR	NM_030917.3	NP_112179.2	Q6UN15	FIP1_HUMAN	factor interacting with PAPOLA and CPSF1	589	Glu-rich.|Sufficient for interaction with CPSF1 and CSTF3.				mRNA processing (GO:0006397)	mRNA cleavage and polyadenylation specificity factor complex (GO:0005847)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			large_intestine(3)|liver(1)|ovary(1)|skin(1)	6			GBM - Glioblastoma multiforme(3;3.31e-36)|LUSC - Lung squamous cell carcinoma(32;0.0134)			AGGAGAGCACCGAAGCTACACC	0.401			T	PDGFRA	idiopathic hypereosinophilic syndrome																																	ENST00000337488.6				Dom	yes		4	4q12	81608	T	FIP1 like 1 (S. cerevisiae)			L	PDGFRA		idiopathic hypereosinophilic syndrome		0				large_intestine(3)|liver(1)|ovary(1)|skin(1)	6						c.(1762-1767)acaagcfs		factor interacting with PAPOLA and CPSF1																																				SO:0001589	frameshift_variant	81608				mRNA processing	nucleus	RNA binding	g.chr4:54325595_54325596insG	AF161429	CCDS3491.1, CCDS47055.1, CCDS47056.1	4q12	2013-06-18	2013-06-18		ENSG00000145216	ENSG00000145216			19124	protein-coding gene	gene with protein product		607686	"FIP1 like 1 (S. cerevisiae)", "FIP1L1 cleavage and polyadenylation specific factor subunit"			11230166, 14749727	Standard	NM_030917		Approved	DKFZp586K0717, FIP1	uc003hae.3	Q6UN15	OTTHUMG00000128701	ENST00000337488.6:c.1765dupG	4.37:g.54325596_54325596dupG	ENSP00000336752:p.Glu589fs					FIP1L1_ENST00000306932.6_Frame_Shift_Ins_p.S515fs|FIP1L1_ENST00000358575.5_Frame_Shift_Ins_p.S583fs|FIP1L1_ENST00000507166.1_Intron|LNX1_ENST00000306888.2_3'UTR	p.S589fs	NM_030917.3	NP_112179.2	Q6UN15	FIP1_HUMAN	GBM - Glioblastoma multiforme(3;3.31e-36)|LUSC - Lung squamous cell carcinoma(32;0.0134)		18	1958_1959	+			589			Glu-rich.|Sufficient for interaction with CPSF1 and CSTF3.		B4DIR3|G3XAD6|Q0VGE0|Q499Y4|Q49AU3|Q7Z608|Q8WVN3|Q96F80|Q9H077	Frame_Shift_Ins	INS	ENST00000337488.6	37	c.1764_1765insG	CCDS3491.1																																																																																				0.401	FIP1L1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000250602.1	NM_030917		21	162						21	162	---	---	---	---	G	54325596	-	G	54325595	7	5	211	1	0	1	1	0	0	0	0	0	5896	639	23	0	1865	0	FIP1L1	4	54325595	Frame_Shift_Ins	INS	-	TCGA-HC-7737-01A-11D-2114-08	6916738	54325595	136828681	7	9713											
PRSS12	8492	broad.mit.edu	37	chr4	119216935	119216935	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttttggaggaacatttacctTaaagaatttttcccaccaat	13	15	5	8	0	0	1	0	0	0	1	1	3	1	3	3	2	2	0	3	2	6	7			TCGA-HC-7737-01A-11D-2114-08	TCGA-HC-7737-11A-02D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf98acc-736b-4af6-bdca-a320a413165a	4adefa84-9ffb-4efe-9a7f-bf1e307f6932	g.chr4:119216935T>A	ENST00000296498.3	-	10	2196	c.1914A>T	c.(1912-1914)ttA>ttT	p.L638F	PRSS12_ENST00000510903.1_5'UTR	NM_003619.3	NP_003610.2	P56730	NETR_HUMAN	protease, serine, 12 (neurotrypsin, motopsin)	638	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				exocytosis (GO:0006887)|zymogen activation (GO:0031638)	axon (GO:0030424)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|extracellular region (GO:0005576)|plasma membrane (GO:0005886)|synaptic cleft (GO:0043083)|terminal bouton (GO:0043195)	scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			endometrium(3)|kidney(1)|large_intestine(9)|lung(11)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	29						ACATTTACCTTAAAGAATTTT	0.363																																						ENST00000296498.3																			0				endometrium(3)|kidney(1)|large_intestine(9)|lung(11)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	29						c.(1912-1914)ttA>ttT		protease, serine, 12 (neurotrypsin, motopsin)							62	71	68					4																	119216935		2203	4300	6503	SO:0001583	missense	8492					membrane	scavenger receptor activity	g.chr4:119216935T>A	AJ001531	CCDS3709.1	4q25-q26	2010-05-07			ENSG00000164099	ENSG00000164099		"Serine peptidases / Serine peptidases"	9477	protein-coding gene	gene with protein product		606709				9540828, 9245503	Standard	NM_003619		Approved	BSSP-3, MRT1	uc003ica.2	P56730	OTTHUMG00000161166	ENST00000296498.3:c.1914A>T	4.37:g.119216935T>A	ENSP00000296498:p.Leu638Phe					PRSS12_ENST00000510903.1_5'UTR	p.L638F	NM_003619.3	NP_003610.2	P56730	NETR_HUMAN			10	2196	-			638			Peptidase S1.		Q9UP16	Missense_Mutation	SNP	ENST00000296498.3	37	c.1914A>T	CCDS3709.1	.	.	.	.	.	.	.	.	.	.	T	16.51	3.143409	0.57044	.	.	ENSG00000164099	ENST00000296498	D	0.88586	-2.4	5.64	1.95	0.26073	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.64402	D	0.000008	T	0.79240	0.4412	N	0.24115	0.695	0.42298	D	0.992164	P	0.39576	0.679	B	0.40038	0.317	T	0.70865	-0.4756	10	0.25106	T	0.35	.	7.9394	0.29950	0.0:0.2282:0.0:0.7718	.	638	P56730	NETR_HUMAN	F	638	ENSP00000296498:L638F	ENSP00000296498:L638F	L	-	3	2	PRSS12	119436383	1.000000	0.71417	1.000000	0.80357	0.872000	0.50106	1.642000	0.37207	0.423000	0.26033	0.533000	0.62120	TTA		0.363	PRSS12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256516.2			5	82	0	0	0	1	0	5	82					A	119216935	T	A	119216935	3	1	211	1	0	0	0	0	1	0	0	0	12615	1751	61	5	729	5	PRSS12	4	119216935	Missense_Mutation	SNP	T	TCGA-HC-7737-01A-11D-2114-08	64891340	119216935	71937341	8	9714											
PCDHA5	56143	broad.mit.edu	37	chr5	140203081	140203081	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tcgagtgggtggcaccggcgGcgcagtgagcgagctggtgc	5	6	20	10	5	0	1	0	1	0	0	1	3	0	1	1	5	3	3	1	5	0	0			TCGA-HC-7737-01A-11D-2114-08	TCGA-HC-7737-11A-02D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf98acc-736b-4af6-bdca-a320a413165a	4adefa84-9ffb-4efe-9a7f-bf1e307f6932	g.chr5:140203081G>T	ENST00000529859.1	+	1	1721	c.1721G>T	c.(1720-1722)gGc>gTc	p.G574V	PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000378126.3_Missense_Mutation_p.G574V|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529619.1_Missense_Mutation_p.G574V|PCDHA2_ENST00000526136.1_Intron	NM_018908.2	NP_061731.1	Q9Y5H7	PCDA5_HUMAN	protocadherin alpha 5	574					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(3)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGCACCGGCGGCGCAGTGAGC	0.687																																						ENST00000529859.1																			0				NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(3)	60						c.(1720-1722)gGc>gTc									43	51	48					5																	140203081		2202	4298	6500	SO:0001583	missense	0							g.chr5:140203081G>T	AF152483	CCDS54917.1	5q31	2010-11-26				ENSG00000204965		"Cadherins / Protocadherins : Clustered"	8671	other	complex locus constituent	"ortholog of mouse CNR6", "KIAA0345-like 9"	606311		CNRS6		10380929, 10662547	Standard	NM_018908		Approved	CNR6, CRNR6, CNRN6, PCDH-ALPHA5		Q9Y5H7		ENST00000529859.1:c.1721G>T	5.37:g.140203081G>T	ENSP00000436557:p.Gly574Val					PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000378126.3_Missense_Mutation_p.G574V|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Missense_Mutation_p.G574V|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000512229.2_Intron	p.G574V	NM_018908.2	NP_061731.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1721	+								O75284|Q8N4R3	Missense_Mutation	SNP	ENST00000529859.1	37	c.1721G>T	CCDS54917.1	.	.	.	.	.	.	.	.	.	.	G	7.322	0.617131	0.14129	.	.	ENSG00000204965	ENST00000529619;ENST00000529859;ENST00000378126	T;T;T	0.50548	0.78;0.74;0.77	3.87	1.8	0.24995	Cadherin-like (1);	.	.	.	.	T	0.38026	0.1025	N	0.25380	0.74	0.09310	N	1	B;B;B	0.25955	0.039;0.065;0.138	B;B;B	0.31751	0.015;0.048;0.135	T	0.41484	-0.9506	9	0.56958	D	0.05	.	12.1115	0.53842	0.0:0.0:0.5774:0.4226	.	574;574;574	Q9Y5H7;Q9Y5H7-3;Q9Y5H7-2	PCDA5_HUMAN;.;.	V	574	ENSP00000433416:G574V;ENSP00000436557:G574V;ENSP00000367366:G574V	ENSP00000367366:G574V	G	+	2	0	PCDHA5	140183265	0.001000	0.12720	0.001000	0.08648	0.480000	0.33159	0.406000	0.21032	0.709000	0.31976	0.306000	0.20318	GGC		0.687	PCDHA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372883.2	NM_018908		5	65	1	0	1.23904e-05	1	1.36612e-05	5	65					T	140203081	G	T	140203081	3	4	211	1	0	0	0	0	1	0	0	0	11527	1203	42	5	1723	5	PCDHA5	5	140203081	Missense_Mutation	SNP	G	TCGA-HC-7737-01A-11D-2114-08		140203081	40712179	9	9715											
PCDHGA4	56111	broad.mit.edu	37	chr5	140735010	140735010	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttcgccctgaacccgcgcagCggcaccttggtcaccgcggg	5	6	13	17	6	1	1	1	1	0	0	2	1	1	1	4	3	2	2	4	3	1	2			TCGA-HC-7737-01A-11D-2114-08	TCGA-HC-7737-11A-02D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf98acc-736b-4af6-bdca-a320a413165a	4adefa84-9ffb-4efe-9a7f-bf1e307f6932	g.chr5:140735010C>T	ENST00000571252.1	+	1	243	c.243C>T	c.(241-243)agC>agT	p.S81S	PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB1_ENST00000523390.1_Intron	NM_018917.2	NP_061740	Q9Y5G9	PCDG4_HUMAN	protocadherin gamma subfamily A, 4	81	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACCCGCGCAGCGGCACCTTGG	0.612																																						ENST00000571252.1																			0				endometrium(1)|kidney(1)|lung(3)	5						c.(241-243)agC>agT									46	55	52					5																	140735010		2171	4294	6465	SO:0001819	synonymous_variant	0							g.chr5:140735010C>T	AF152511	CCDS58979.1, CCDS58979.2, CCDS75331.1	5q31	2010-01-26						"Cadherins / Protocadherins : Clustered"	8702	other	protocadherin		606291				10380929	Standard	NM_018917		Approved	PCDH-GAMMA-A4		Q9Y5G9		ENST00000571252.1:c.243C>T	5.37:g.140735010C>T						PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron	p.S81S	NM_018917.2	NP_061740.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	243	+								Q9Y5D3	Silent	SNP	ENST00000571252.1	37	c.243C>T	CCDS58979.1																																																																																				0.612	PCDHGA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437959.1	NM_018917		3	63	0	0	0	1	0	3	63					T	140735010	C	T	140735010	2	4	211	1	0	0	0	0	0	0	0	1	11556	767	27	1		1	PCDHGA4	5	140735010	Silent	SNP	C	TCGA-HC-7737-01A-11D-2114-08	531929	140735010	40180250	10	9716											
FRS3	10817	broad.mit.edu	37	chr6	41738719	41738719	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ggcggcccgggtgctggtggGcttctgcagtggggtctcgt	1	10	20	10	3	2	0	0	0	2	0	3	0	2	0	1	7	2	3	1	7	0	1			TCGA-HC-7737-01A-11D-2114-08	TCGA-HC-7737-11A-02D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf98acc-736b-4af6-bdca-a320a413165a	4adefa84-9ffb-4efe-9a7f-bf1e307f6932	g.chr6:41738719G>A	ENST00000373018.3	-	7	1368	c.1117C>T	c.(1117-1119)Ccc>Tcc	p.P373S	FRS3_ENST00000259748.2_Missense_Mutation_p.P373S	NM_006653.3	NP_006644.1	O43559	FRS3_HUMAN	fibroblast growth factor receptor substrate 3	373					fibroblast growth factor receptor signaling pathway (GO:0008543)|signal transduction (GO:0007165)	plasma membrane (GO:0005886)	fibroblast growth factor receptor binding (GO:0005104)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	Ovarian(28;0.0355)|Colorectal(47;0.121)		Epithelial(12;8.38e-05)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			GTGCTGGTGGGCTTCTGCAGT	0.662																																						ENST00000373018.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						c.(1117-1119)Ccc>Tcc		fibroblast growth factor receptor substrate 3							41	44	43					6																	41738719		2200	4298	6498	SO:0001583	missense	10817				fibroblast growth factor receptor signaling pathway	plasma membrane	fibroblast growth factor receptor binding|insulin receptor binding	g.chr6:41738719G>A	AF036718	CCDS4860.1	6p21.1	2010-08-05			ENSG00000137218	ENSG00000137218			16970	protein-coding gene	gene with protein product		607744				8761293, 9660748	Standard	NM_006653		Approved	SNT-2, FRS2beta, FRS2B	uc003orc.1	O43559	OTTHUMG00000014686	ENST00000373018.3:c.1117C>T	6.37:g.41738719G>A	ENSP00000362109:p.Pro373Ser					FRS3_ENST00000259748.2_Missense_Mutation_p.P373S	p.P373S	NM_006653.3	NP_006644.1	O43559	FRS3_HUMAN	Epithelial(12;8.38e-05)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)		7	1368	-	Ovarian(28;0.0355)|Colorectal(47;0.121)		373					Q5T3D5	Missense_Mutation	SNP	ENST00000373018.3	37	c.1117C>T	CCDS4860.1	.	.	.	.	.	.	.	.	.	.	G	9.472	1.095770	0.20552	.	.	ENSG00000137218	ENST00000373018;ENST00000259748	T;T	0.21191	2.02;2.02	5.76	4.71	0.59529	.	0.245819	0.43747	D	0.000538	T	0.04907	0.0132	N	0.22421	0.69	0.33722	D	0.617148	P	0.42827	0.791	B	0.32677	0.15	T	0.22138	-1.0225	10	0.37606	T	0.19	-30.3254	8.8037	0.34925	0.1735:0.0:0.8265:0.0	.	373	O43559	FRS3_HUMAN	S	373	ENSP00000362109:P373S;ENSP00000259748:P373S	ENSP00000259748:P373S	P	-	1	0	FRS3	41846697	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	4.214000	0.58527	2.728000	0.93425	0.655000	0.94253	CCC		0.662	FRS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040532.2	NM_006653		5	107	0	0	0	1	0	5	107					A	41738719	G	A	41738719	3	1	211	1	0	0	0	0	1	0	0	0	6062	1203	42	3	365	3	FRS3	6	41738719	Missense_Mutation	SNP	G	TCGA-HC-7737-01A-11D-2114-08		41738719	129376348	11	9717											
ALKBH4	54784	broad.mit.edu	37	chr7	102098332	102098332	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ctccagccccgggtagaggcCcatcctccgcaccacctccc	6	5	8	22	2	0	1	0	0	0	1	4	1	4	1	9	2	1	2	9	2	1	1			TCGA-HC-7737-01A-11D-2114-08	TCGA-HC-7737-11A-02D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf98acc-736b-4af6-bdca-a320a413165a	4adefa84-9ffb-4efe-9a7f-bf1e307f6932	g.chr7:102098332C>T	ENST00000292566.3	-	3	457	c.418G>A	c.(418-420)Ggc>Agc	p.G140S		NM_017621.3	NP_060091.1	Q9NXW9	ALKB4_HUMAN	alkB, alkylation repair homolog 4 (E. coli)	140					actomyosin structure organization (GO:0031032)|cleavage furrow ingression (GO:0036090)|protein demethylation (GO:0006482)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	contractile ring (GO:0070938)|cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleus (GO:0005634)	actin binding (GO:0003779)|demethylase activity (GO:0032451)|metal ion binding (GO:0046872)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)			kidney(1)|lung(5)|skin(2)	8						GGGTAGAGGCCCATCCTCCGC	0.652																																						ENST00000292566.3																			0				kidney(1)|lung(5)|skin(2)	8						c.(418-420)Ggc>Agc		alkB, alkylation repair homolog 4 (E. coli)							30	33	32					7																	102098332		2203	4300	6503	SO:0001583	missense	54784					cytoplasm|nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr7:102098332C>T	BC017096	CCDS5723.1	7q22.1	2006-02-09			ENSG00000160993	ENSG00000160993		"Alkylation repair homologs"	21900	protein-coding gene	gene with protein product		613302					Standard	NM_017621		Approved	FLJ20013	uc003uzl.3	Q9NXW9	OTTHUMG00000157720	ENST00000292566.3:c.418G>A	7.37:g.102098332C>T	ENSP00000292566:p.Gly140Ser						p.G140S	NM_017621.3	NP_060091.1	Q9NXW9	ALKB4_HUMAN			3	457	-			140					Q53H92|Q9H6A4	Missense_Mutation	SNP	ENST00000292566.3	37	c.418G>A	CCDS5723.1	.	.	.	.	.	.	.	.	.	.	C	5.210	0.224295	0.09863	.	.	ENSG00000160993	ENST00000292566	T	0.13420	2.59	4.67	3.79	0.43588	.	0.454596	0.25377	N	0.031115	T	0.06690	0.0171	N	0.11789	0.175	0.32047	N	0.597439	B	0.10296	0.003	B	0.06405	0.002	T	0.29336	-1.0015	10	0.07175	T	0.84	-11.9847	10.5717	0.45204	0.0:0.7681:0.0:0.2319	.	140	Q9NXW9	ALKB4_HUMAN	S	140	ENSP00000292566:G140S	ENSP00000292566:G140S	G	-	1	0	ALKBH4	101885337	0.110000	0.22057	0.991000	0.47740	0.725000	0.41563	0.433000	0.21477	0.595000	0.29777	-1.134000	0.01955	GGC		0.652	ALKBH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349503.1	NM_017621		6	36	0	0	0	1	0	6	36					T	102098332	C	T	102098332	3	4	211	1	0	0	0	0	1	0	0	0	529	623	22	3	494	3	ALKBH4	7	102098332	Missense_Mutation	SNP	C	TCGA-HC-7737-01A-11D-2114-08		102098332	57040331	12	9718											
OR13D1	286365	broad.mit.edu	37	chr9	107456834	107456834	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tactctgccatgactgaattCtttctggtggggctttccca	6	15	9	11	0	3	2	0	2	3	0	4	2	4	2	2	3	2	1	2	3	2	4			TCGA-HC-7737-01A-11D-2114-08	TCGA-HC-7737-11A-02D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf98acc-736b-4af6-bdca-a320a413165a	4adefa84-9ffb-4efe-9a7f-bf1e307f6932	g.chr9:107456834C>G	ENST00000318763.5	+	1	175	c.132C>G	c.(130-132)ttC>ttG	p.F44L		NM_001004484.1	NP_001004484.1	Q8NGV5	O13D1_HUMAN	olfactory receptor, family 13, subfamily D, member 1	44						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			large_intestine(4)|lung(10)|ovary(1)|prostate(2)|skin(2)	19						TGACTGAATTCTTTCTGGTGG	0.443																																						ENST00000318763.5																			0				large_intestine(4)|lung(10)|ovary(1)|prostate(2)|skin(2)	19						c.(130-132)ttC>ttG		olfactory receptor, family 13, subfamily D, member 1							68	68	68					9																	107456834		2203	4300	6503	SO:0001583	missense	286365				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:107456834C>G		CCDS35094.1	9q31.1	2013-09-24			ENSG00000179055	ENSG00000179055		"GPCR / Class A : Olfactory receptors"	14695	protein-coding gene	gene with protein product							Standard	NM_001004484		Approved		uc011lvs.2	Q8NGV5	OTTHUMG00000020412	ENST00000318763.5:c.132C>G	9.37:g.107456834C>G	ENSP00000317357:p.Phe44Leu						p.F44L	NM_001004484.1	NP_001004484.1	Q8NGV5	O13D1_HUMAN			1	175	+			44					B9EIS1|Q6IFL1	Missense_Mutation	SNP	ENST00000318763.5	37	c.132C>G	CCDS35094.1	.	.	.	.	.	.	.	.	.	.	C	15.25	2.777036	0.49786	.	.	ENSG00000179055	ENST00000318763	T	0.04454	3.62	3.75	2.73	0.32206	.	0.000000	0.53938	D	0.000054	T	0.15219	0.0367	M	0.89214	3.015	0.27165	N	0.961052	D	0.61697	0.99	P	0.56648	0.803	T	0.04991	-1.0913	10	0.72032	D	0.01	.	4.406	0.11409	0.0:0.7198:0.0:0.2802	.	44	Q8NGV5	O13D1_HUMAN	L	44	ENSP00000317357:F44L	ENSP00000317357:F44L	F	+	3	2	OR13D1	106496655	0.000000	0.05858	1.000000	0.80357	0.751000	0.42716	-0.264000	0.08658	1.917000	0.55516	0.609000	0.83330	TTC		0.443	OR13D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053483.1			10	39	0	0	0	1	0	10	39					G	107456834	C	G	107456834	3	3	211	1	0	0	0	0	1	0	0	0	10940	912	32	5	134	5	OR13D1	9	107456834	Missense_Mutation	SNP	C	TCGA-HC-7737-01A-11D-2114-08		107456834	33756597	13	9719											
NUP214	8021	broad.mit.edu	37	chr9	134026129	134026129	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atgacttgcatacctttcttTtggagattaaagagaccaca	13	13	7	8	0	1	3	0	1	1	2	1	5	1	3	2	1	2	1	2	1	3	6			TCGA-HC-7737-01A-11D-2114-08	TCGA-HC-7737-11A-02D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf98acc-736b-4af6-bdca-a320a413165a	4adefa84-9ffb-4efe-9a7f-bf1e307f6932	g.chr9:134026129T>G	ENST00000359428.5	+	16	2398	c.2254T>G	c.(2254-2256)Ttg>Gtg	p.L752V	RP11-544A12.4_ENST00000587408.1_RNA|RP11-544A12.4_ENST00000586290.1_RNA|RP11-544A12.4_ENST00000588378.1_RNA|RP11-544A12.4_ENST00000587264.1_RNA|RP11-544A12.4_ENST00000589667.1_RNA|RP11-544A12.4_ENST00000415391.2_RNA|NUP214_ENST00000451030.1_Missense_Mutation_p.L753V|NUP214_ENST00000411637.2_Missense_Mutation_p.L742V|RP11-544A12.4_ENST00000590461.1_RNA|RP11-544A12.4_ENST00000589540.1_RNA			P35658	NU214_HUMAN	nucleoporin 214kDa	752	11 X 5 AA approximate repeats.|Leucine-zipper 1.				carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|gene expression (GO:0010467)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|protein export from nucleus (GO:0006611)|protein import into nucleus (GO:0006606)|regulation of cell cycle (GO:0051726)|regulation of glucose transport (GO:0010827)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|focal adhesion (GO:0005925)|intracellular membrane-bounded organelle (GO:0043231)|nuclear pore (GO:0005643)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleocytoplasmic transporter activity (GO:0005487)|transporter activity (GO:0005215)			NS(1)|breast(9)|central_nervous_system(3)|endometrium(13)|kidney(2)|large_intestine(9)|liver(2)|lung(29)|ovary(2)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	86	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256)		TACCTTTCTTTTGGAGATTAA	0.403			T	"DEK, SET, ABL1"	"AML, T-ALL"																																Pancreas(4;24 48 25510 30394 32571)	ENST00000359428.5				Dom	yes		9	9q34.1	8021	T	nucleoporin 214kDa (CAN)			L	"DEK, SET, ABL1"		"AML, T-ALL"		0				NS(1)|breast(9)|central_nervous_system(3)|endometrium(13)|kidney(2)|large_intestine(9)|liver(2)|lung(29)|ovary(2)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	86						c.(2254-2256)Ttg>Gtg		nucleoporin 214kDa							155	158	157					9																	134026129		2203	4300	6503	SO:0001583	missense	8021				carbohydrate metabolic process|glucose transport|mRNA metabolic process|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore|nucleoplasm	protein binding	g.chr9:134026129T>G	X64228	CCDS6940.1	9q34	2008-07-21	2002-08-29		ENSG00000126883	ENSG00000126883			8064	protein-coding gene	gene with protein product	"nuclear pore complex protein Nup214", "CAN protein, putative oncogene"	114350	"nucleoporin 214kD (CAIN)"			8108440, 2370860	Standard	NM_005085		Approved	CAIN, CAN, D9S46E, N214	uc004cag.3	P35658	OTTHUMG00000020816	ENST00000359428.5:c.2254T>G	9.37:g.134026129T>G	ENSP00000352400:p.Leu752Val					RP11-544A12.4_ENST00000415391.2_RNA|RP11-544A12.4_ENST00000587408.1_RNA|RP11-544A12.4_ENST00000590461.1_RNA|NUP214_ENST00000411637.2_Missense_Mutation_p.L742V|RP11-544A12.4_ENST00000588378.1_RNA|RP11-544A12.4_ENST00000587264.1_RNA|RP11-544A12.4_ENST00000586290.1_RNA|NUP214_ENST00000451030.1_Missense_Mutation_p.L753V|RP11-544A12.4_ENST00000589540.1_RNA|RP11-544A12.4_ENST00000589667.1_RNA	p.L752V			P35658	NU214_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256)	16	2398	+	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)	752			11 X 5 AA approximate repeats.|Leucine-zipper 1.		A6NFQ0|Q15010|Q3KQZ0|Q5JUP7|Q75R47|Q86XD3	Missense_Mutation	SNP	ENST00000359428.5	37	c.2254T>G	CCDS6940.1	.	.	.	.	.	.	.	.	.	.	T	14.55	2.567578	0.45694	.	.	ENSG00000126883	ENST00000359428;ENST00000411637;ENST00000451030;ENST00000541375;ENST00000540899;ENST00000438605	T;T;T	0.34472	1.38;1.37;1.36	5.84	-4.1	0.03940	.	0.214312	0.23096	N	0.051965	T	0.28732	0.0712	N	0.08118	0	0.31303	N	0.688108	P;D;B;D	0.64830	0.502;0.994;0.372;0.971	B;P;B;P	0.57152	0.232;0.814;0.053;0.646	T	0.40739	-0.9547	10	0.46703	T	0.11	-9.5324	15.2655	0.73657	0.0:0.5793:0.0:0.4207	.	741;346;742;752	P35658-2;Q5JUP9;P35658-4;P35658	.;.;.;NU214_HUMAN	V	752;742;753;741;346;181	ENSP00000352400:L752V;ENSP00000396576:L742V;ENSP00000405014:L753V	ENSP00000352400:L752V	L	+	1	2	NUP214	133015950	0.560000	0.26570	0.139000	0.22197	0.945000	0.59286	0.780000	0.26760	-0.624000	0.05611	-0.290000	0.09829	TTG		0.403	NUP214-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000054694.2	NM_005085		5	149	0	0	0	1	0	5	149					G	134026129	T	G	134026129	3	3	211	1	0	0	0	0	1	0	0	0	10762	1838	64	5	2316	5	NUP214	9	134026129	Missense_Mutation	SNP	T	TCGA-HC-7737-01A-11D-2114-08	26569295	134026129	7187302	14	9720											
EPC1	80314	broad.mit.edu	37	chr10	32576086	32576086	+	Frame_Shift_Del	DEL	G	G	-																															tgattcagatctttagcattGaagactggcagtgcagcagg																										TCGA-HC-7737-01A-11D-2114-08	TCGA-HC-7737-11A-02D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf98acc-736b-4af6-bdca-a320a413165a	4adefa84-9ffb-4efe-9a7f-bf1e307f6932	g.chr10:32576086delG	ENST00000263062.8	-	7	1361	c.1092delC	c.(1090-1092)ttcfs	p.F364fs	EPC1_ENST00000319778.6_Frame_Shift_Del_p.F364fs|EPC1_ENST00000375110.2_Frame_Shift_Del_p.F314fs	NM_025209.2	NP_079485.1	Q9H2F5	EPC1_HUMAN	enhancer of polycomb homolog 1 (Drosophila)	364					chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|negative regulation of gene expression, epigenetic (GO:0045814)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of growth (GO:0040008)|transcription, DNA-templated (GO:0006351)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Piccolo NuA4 histone acetyltransferase complex (GO:0032777)				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(5)|urinary_tract(1)	24		Prostate(175;0.0199)				CTTTAGCATTGAAGACTGGCA	0.463																																						ENST00000319778.6																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(5)|urinary_tract(1)	24						c.(1090-1092)ttfs		enhancer of polycomb homolog 1 (Drosophila)							155	138	144					10																	32576086		2203	4300	6503	SO:0001589	frameshift_variant	80314				histone H2A acetylation|histone H4 acetylation|negative regulation of gene expression, epigenetic|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|regulation of growth|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear membrane|Piccolo NuA4 histone acetyltransferase complex		g.chr10:32576086delG	AF277374	CCDS7172.1, CCDS60511.1, CCDS73083.1	10p11	2005-12-12			ENSG00000120616	ENSG00000120616			19876	protein-coding gene	gene with protein product		610999				10976108	Standard	NM_025209		Approved	Epl1	uc001iwg.2	Q9H2F5	OTTHUMG00000017925	ENST00000263062.8:c.1092delC	10.37:g.32576086delG	ENSP00000263062:p.Phe364fs					EPC1_ENST00000263062.8_Frame_Shift_Del_p.F364fs|EPC1_ENST00000375110.2_Frame_Shift_Del_p.F314fs	p.F364fs	NM_001272004.1|NM_001272019.1	NP_001258933.1|NP_001258948.1	Q9H2F5	EPC1_HUMAN			7	1394	-		Prostate(175;0.0199)	364					B4DSC3|D3DRX7|Q5VW54|Q5VW56|Q5VW58|Q8NAQ4|Q8NE21|Q96LF4|Q96RR6|Q9H7T7	Frame_Shift_Del	DEL	ENST00000263062.8	37	c.1092delC	CCDS7172.1																																																																																				0.463	EPC1-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000047484.1			11	128						11	128	---	---	---	---	-	32576086	G	-	32576086	7	5	211	1	0	1	0	1	0	0	0	0	5160	1281	45	0	1454	0	EPC1	10	32576086	Frame_Shift_Del	DEL	G	TCGA-HC-7737-01A-11D-2114-08		32576086	102958661	15	9721											
OR52E2	119678	broad.mit.edu	37	chr11	5080421	5080421	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcacaaacacaccaagaccaAtcacagaaacaaccttgttg	18	6	4	13	0	2	2	2	0	0	2	2	2	2	2	3	0	3	1	3	0	5	2			TCGA-HC-7737-01A-11D-2114-08	TCGA-HC-7737-11A-02D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf98acc-736b-4af6-bdca-a320a413165a	4adefa84-9ffb-4efe-9a7f-bf1e307f6932	g.chr11:5080421A>T	ENST00000321522.2	-	1	436	c.437T>A	c.(436-438)aTt>aAt	p.I146N		NM_001005164.2	NP_001005164.2	Q8NGJ4	O52E2_HUMAN	olfactory receptor, family 52, subfamily E, member 2	146						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|lung(13)|ovary(2)|skin(3)	20		Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086)		Epithelial(150;1.03e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.191)		ACCAAGACCAATCACAGAAAC	0.463																																						ENST00000321522.2																			0				endometrium(2)|lung(13)|ovary(2)|skin(3)	20						c.(436-438)aTt>aAt		olfactory receptor, family 52, subfamily E, member 2							91	82	85					11																	5080421		2201	4298	6499	SO:0001583	missense	119678				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5080421A>T	AB065800	CCDS31371.1	11p15.4	2012-08-09			ENSG00000176787	ENSG00000176787		"GPCR / Class A : Olfactory receptors"	14769	protein-coding gene	gene with protein product							Standard	NM_001005164		Approved		uc010qyw.2	Q8NGJ4	OTTHUMG00000066608	ENST00000321522.2:c.437T>A	11.37:g.5080421A>T	ENSP00000322088:p.Ile146Asn						p.I146N	NM_001005164.2	NP_001005164.2	Q8NGJ4	O52E2_HUMAN		Epithelial(150;1.03e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.191)	1	436	-		Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086)	146						Missense_Mutation	SNP	ENST00000321522.2	37	c.437T>A	CCDS31371.1	.	.	.	.	.	.	.	.	.	.	A	9.608	1.130610	0.21041	.	.	ENSG00000176787	ENST00000321522	T	0.40476	1.03	3.77	3.77	0.43336	GPCR, rhodopsin-like superfamily (1);	0.394554	0.21986	N	0.066235	T	0.57242	0.2040	H	0.96748	3.875	0.18873	N	0.999986	B	0.32031	0.352	B	0.35899	0.213	T	0.62067	-0.6932	10	0.87932	D	0	.	7.6553	0.28371	0.8974:0.0:0.1026:0.0	.	146	Q8NGJ4	O52E2_HUMAN	N	146	ENSP00000322088:I146N	ENSP00000322088:I146N	I	-	2	0	OR52E2	5036997	0.000000	0.05858	0.979000	0.43373	0.384000	0.30261	0.825000	0.27393	1.966000	0.57179	0.529000	0.55759	ATT		0.463	OR52E2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142815.1	NM_001005164		4	25	0	0	0	1	0	4	25					T	5080421	A	T	5080421	3	4	211	1	0	0	0	0	1	0	0	0	11115	101	4	5	543	5	OR52E2	11	5080421	Missense_Mutation	SNP	A	TCGA-HC-7737-01A-11D-2114-08		5080421	129926095	16	9722											
CD163L1	283316	broad.mit.edu	37	chr12	7531609	7531609	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgcttccatatttaaatgaCacgcagtctgtttccactcc	9	15	5	12	1	1	1	0	1	1	0	4	1	4	1	3	0	1	3	3	0	3	6			TCGA-HC-7737-01A-11D-2114-08	TCGA-HC-7737-11A-02D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf98acc-736b-4af6-bdca-a320a413165a	4adefa84-9ffb-4efe-9a7f-bf1e307f6932	g.chr12:7531609C>A	ENST00000313599.3	-	9	2393	c.2336G>T	c.(2335-2337)tGt>tTt	p.C779F	CD163L1_ENST00000416109.2_Missense_Mutation_p.C789F|CD163L1_ENST00000396630.1_Missense_Mutation_p.C779F|CD163L1_ENST00000544331.1_5'UTR			Q9NR16	C163B_HUMAN	CD163 molecule-like 1	779	SRCR 7. {ECO:0000255|PROSITE- ProRule:PRU00196}.					extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)			breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						ATTTAAATGACACGCAGTCTG	0.368																																						ENST00000313599.3																			0				breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						c.(2335-2337)tGt>tTt		CD163 molecule-like 1							67	71	69					12																	7531609		2203	4300	6503	SO:0001583	missense	283316					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity	g.chr12:7531609C>A	AF264014	CCDS8577.1, CCDS73434.1	12p13.31	2006-03-28	2006-03-28			ENSG00000177675			30375	protein-coding gene	gene with protein product		606079	"CD163 antigen-like 1"			11124526, 11086079	Standard	XM_005253348		Approved	M160, CD163B	uc001qsy.3	Q9NR16		ENST00000313599.3:c.2336G>T	12.37:g.7531609C>A	ENSP00000315945:p.Cys779Phe					CD163L1_ENST00000396630.1_Missense_Mutation_p.C779F|CD163L1_ENST00000544331.1_5'UTR|CD163L1_ENST00000416109.2_Missense_Mutation_p.C789F	p.C779F			Q9NR16	C163B_HUMAN			9	2393	-			779			SRCR 7.		B4E0G7|C9JHR7|E7EVK4|Q2M3B7|Q6UWC2	Missense_Mutation	SNP	ENST00000313599.3	37	c.2336G>T	CCDS8577.1	.	.	.	.	.	.	.	.	.	.	C	13.30	2.196480	0.38806	.	.	ENSG00000177675	ENST00000313599;ENST00000416109;ENST00000396630	T;T;T	0.52526	0.66;0.66;0.66	2.03	2.03	0.26663	Speract/scavenger receptor (2);Speract/scavenger receptor-related (2);	0.984810	0.08236	U	0.976729	T	0.72028	0.3410	M	0.88906	2.99	0.34140	D	0.666285	D;D	0.89917	1.0;1.0	D;D	0.91635	0.996;0.999	T	0.73360	-0.4007	10	0.59425	D	0.04	.	10.0707	0.42330	0.0:1.0:0.0:0.0	.	789;779	E7EVK4;Q9NR16	.;C163B_HUMAN	F	779;789;779	ENSP00000315945:C779F;ENSP00000393474:C789F;ENSP00000379871:C779F	ENSP00000315945:C779F	C	-	2	0	CD163L1	7422876	1.000000	0.71417	0.008000	0.14137	0.002000	0.02628	4.663000	0.61532	1.430000	0.47334	0.455000	0.32223	TGT		0.368	CD163L1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399329.1	NM_174941		3	72	1	0	1	1	1	3	72					A	7531609	C	A	7531609	3	1	211	1	0	0	0	0	1	0	0	0	2968	478	17	5	2069	5	CD163L1	12	7531609	Missense_Mutation	SNP	C	TCGA-HC-7737-01A-11D-2114-08		7531609	126320286	17	9723											
H2AFJ	55766	broad.mit.edu	37	chr12	14927441	14927441	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aacagggcggcaaagtgcgaGcaaaggccaaatcccgctcc	13	3	12	13	3	0	0	0	0	0	0	2	1	2	0	3	3	3	3	3	3	4	0			TCGA-HC-7737-01A-11D-2114-08	TCGA-HC-7737-11A-02D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf98acc-736b-4af6-bdca-a320a413165a	4adefa84-9ffb-4efe-9a7f-bf1e307f6932	g.chr12:14927441G>A	ENST00000544848.1	+	1	172	c.37G>A	c.(37-39)Gca>Aca	p.A13T		NM_177925.2	NP_808760.1	Q9BTM1	H2AJ_HUMAN	H2A histone family, member J	13						extracellular vesicular exosome (GO:0070062)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|central_nervous_system(1)|kidney(1)|ovary(1)|skin(1)	5						CAAAGTGCGAGCAAAGGCCAA	0.652																																						ENST00000544848.1																			0				NS(1)|central_nervous_system(1)|kidney(1)|ovary(1)|skin(1)	5						c.(37-39)Gca>Aca		H2A histone family, member J							32	39	37					12																	14927441		2202	4299	6501	SO:0001583	missense	55766				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr12:14927441G>A	AK001765	CCDS31752.1	12p12.3	2012-09-11			ENSG00000246705	ENSG00000246705		"Histones / Replication-independent"	14456	protein-coding gene	gene with protein product							Standard	NM_177925		Approved	FLJ10903, MGC921	uc009zia.3	Q9BTM1	OTTHUMG00000168736	ENST00000544848.1:c.37G>A	12.37:g.14927441G>A	ENSP00000438553:p.Ala13Thr						p.A13T	NM_177925.2	NP_808760.1	Q9BTM1	H2AJ_HUMAN			1	172	+			13					Q9NV63	Missense_Mutation	SNP	ENST00000544848.1	37	c.37G>A	CCDS31752.1	.	.	.	.	.	.	.	.	.	.	G	16.11	3.030490	0.54790	.	.	ENSG00000246705	ENST00000544848;ENST00000228929	D;T	0.84146	-1.81;0.93	4.61	4.61	0.57282	Histone-fold (2);Histone H2A (1);	.	.	.	.	T	0.78880	0.4353	L	0.33093	0.98	0.58432	D	0.999991	B	0.18741	0.03	B	0.16289	0.015	T	0.73209	-0.4055	9	0.36615	T	0.2	.	15.7492	0.77969	0.0:0.0:1.0:0.0	.	13	Q9BTM1	H2AJ_HUMAN	T	13	ENSP00000438553:A13T;ENSP00000228929:A13T	ENSP00000228929:A13T	A	+	1	0	H2AFJ	14818708	1.000000	0.71417	0.995000	0.50966	0.723000	0.41478	7.653000	0.83643	2.844000	0.97970	0.650000	0.86243	GCA		0.652	H2AFJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400845.1	NM_177925		3	49	0	0	0	1	0	3	49					A	14927441	G	A	14927441	3	1	211	1	0	0	0	0	1	0	0	0	6926	971	34	3	39	3	H2AFJ	12	14927441	Missense_Mutation	SNP	G	TCGA-HC-7737-01A-11D-2114-08	7395832	14927441	118924454	18	9724											
EEA1	8411	broad.mit.edu	37	chr12	93247720	93247720	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aatcagtcaccaacccatcaGgtttggcctcctcaattaaa	13	10	5	13	0	4	0	4	0	0	0	5	0	5	0	4	2	1	1	4	2	5	2			TCGA-HC-7737-01A-11D-2114-08	TCGA-HC-7737-11A-02D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf98acc-736b-4af6-bdca-a320a413165a	4adefa84-9ffb-4efe-9a7f-bf1e307f6932	g.chr12:93247720G>T	ENST00000322349.8	-	6	641	c.377C>A	c.(376-378)cCt>cAt	p.P126H		NM_003566.3	NP_003557	Q15075	EEA1_HUMAN	early endosome antigen 1	126					early endosome to late endosome transport (GO:0045022)|endocytosis (GO:0006897)|synaptic vesicle to endosome fusion (GO:0016189)|vesicle fusion (GO:0006906)	axonal spine (GO:0044308)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|extrinsic component of plasma membrane (GO:0019897)|membrane (GO:0016020)|recycling endosome (GO:0055037)|serine-pyruvate aminotransferase complex (GO:0005969)	1-phosphatidylinositol binding (GO:0005545)|calmodulin binding (GO:0005516)|GTP-dependent protein binding (GO:0030742)|protein homodimerization activity (GO:0042803)|zinc ion binding (GO:0008270)			endometrium(5)|kidney(5)|large_intestine(11)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	36						CAACCCATCAGGTTTGGCCTC	0.294																																						ENST00000322349.8																			0				endometrium(5)|kidney(5)|large_intestine(11)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	36						c.(376-378)cCt>cAt		early endosome antigen 1							44	42	43					12																	93247720		2203	4298	6501	SO:0001583	missense	8411				early endosome to late endosome transport|synaptic vesicle to endosome fusion|vesicle fusion	cytosol|early endosome membrane|extrinsic to plasma membrane|membrane fraction	1-phosphatidylinositol binding|calmodulin binding|GTP-dependent protein binding|protein homodimerization activity|zinc ion binding	g.chr12:93247720G>T	L40157	CCDS31874.1	12q22	2007-02-23	2007-02-23			ENSG00000102189		"Zinc fingers, FYVE domain containing"	3185	protein-coding gene	gene with protein product		605070	"early endosome antigen 1, 162kD"			7768953, 9697774	Standard	NM_003566		Approved	ZFYVE2	uc001tck.3	Q15075	OTTHUMG00000170110	ENST00000322349.8:c.377C>A	12.37:g.93247720G>T	ENSP00000317955:p.Pro126His						p.P126H	NM_003566.3	NP_003557.2	Q15075	EEA1_HUMAN			6	641	-			126					Q14221	Missense_Mutation	SNP	ENST00000322349.8	37	c.377C>A	CCDS31874.1	.	.	.	.	.	.	.	.	.	.	G	15.25	2.776449	0.49786	.	.	ENSG00000102189	ENST00000322349;ENST00000540777	T	0.63580	-0.05	5.6	5.6	0.85130	.	0.323425	0.23178	N	0.051043	T	0.52805	0.1757	N	0.14661	0.345	0.23401	N	0.997751	P	0.45348	0.856	P	0.45946	0.498	T	0.52601	-0.8554	10	0.45353	T	0.12	.	16.3667	0.83331	0.0:0.0:1.0:0.0	.	126	Q15075	EEA1_HUMAN	H	126;125	ENSP00000317955:P126H	ENSP00000317955:P126H	P	-	2	0	EEA1	91771851	1.000000	0.71417	1.000000	0.80357	0.486000	0.33341	4.375000	0.59549	2.636000	0.89361	0.591000	0.81541	CCT		0.294	EEA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407304.1	NM_003566		3	29	1	0	1	1	1	3	29					T	93247720	G	T	93247720	3	4	211	1	0	0	0	0	1	0	0	0	4921	1000	35	5	3954	5	EEA1	12	93247720	Missense_Mutation	SNP	G	TCGA-HC-7737-01A-11D-2114-08	78320279	93247720	40604175	19	9725											
GPC5	2262	broad.mit.edu	37	chr13	92101095	92101095	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agagatatcagattgcggctCgccaggatatgcagcagttt	11	10	12	8	2	1	2	1	0	0	2	2	4	1	3	1	2	3	4	1	2	2	4			TCGA-HC-7737-01A-11D-2114-08	TCGA-HC-7737-11A-02D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf98acc-736b-4af6-bdca-a320a413165a	4adefa84-9ffb-4efe-9a7f-bf1e307f6932	g.chr13:92101095C>A	ENST00000377067.3	+	2	616	c.244C>A	c.(244-246)Cgc>Agc	p.R82S		NM_004466.4	NP_004457.1	P78333	GPC5_HUMAN	glypican 5	82					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|breast(4)|endometrium(6)|kidney(4)|large_intestine(7)|lung(34)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69	all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	Lung NSC(4;0.00454)				GATTGCGGCTCGCCAGGATAT	0.428																																						ENST00000377067.3																			0				NS(1)|breast(4)|endometrium(6)|kidney(4)|large_intestine(7)|lung(34)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69						c.(244-246)Cgc>Agc		glypican 5							139	129	133					13																	92101095		2203	4300	6503	SO:0001583	missense	2262					anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding	g.chr13:92101095C>A	AF001462	CCDS9468.1	13q32	2011-08-01			ENSG00000179399	ENSG00000179399		"Proteoglycans / Cell Surface : Glypicans"	4453	protein-coding gene	gene with protein product	"glypican proteoglycan 5"	602446				9070915, 20304703, 19556317, 15057823	Standard	NM_004466		Approved		uc010tif.2	P78333	OTTHUMG00000017200	ENST00000377067.3:c.244C>A	13.37:g.92101095C>A	ENSP00000366267:p.Arg82Ser						p.R82S	NM_004466.4	NP_004457.1	P78333	GPC5_HUMAN			2	616	+	all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	Lung NSC(4;0.00454)	82					B2R726|O60436|Q9BX27	Missense_Mutation	SNP	ENST00000377067.3	37	c.244C>A	CCDS9468.1	.	.	.	.	.	.	.	.	.	.	C	9.109	1.006043	0.19199	.	.	ENSG00000179399	ENST00000377067	T	0.52754	0.65	5.5	4.64	0.57946	.	0.421215	0.24039	N	0.042102	T	0.49695	0.1572	M	0.62723	1.935	0.09310	N	1	B	0.26445	0.149	B	0.33196	0.159	T	0.51934	-0.8642	10	0.87932	D	0	.	13.0414	0.58901	0.3082:0.6918:0.0:0.0	.	82	P78333	GPC5_HUMAN	S	82	ENSP00000366267:R82S	ENSP00000366267:R82S	R	+	1	0	GPC5	90899096	0.871000	0.30034	0.024000	0.17045	0.012000	0.07955	1.038000	0.30254	1.275000	0.44379	0.467000	0.42956	CGC		0.428	GPC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045454.1	NM_004466		3	80	1	0	1	1	1	3	80					A	92101095	C	A	92101095	3	1	211	1	0	0	0	0	1	0	0	0	6601	884	31	5	250	5	GPC5	13	92101095	Missense_Mutation	SNP	C	TCGA-HC-7737-01A-11D-2114-08		92101095	23068783	20	9726											
FAM181A	90050	broad.mit.edu	37	chr14	94395229	94395229	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	aaaaggagccgctcaagatgCctggggtctccttggtgggc	8	8	15	10	1	2	1	1	0	1	1	3	2	2	2	3	5	2	1	3	5	3	1			TCGA-HC-7737-01A-11D-2114-08	TCGA-HC-7737-11A-02D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf98acc-736b-4af6-bdca-a320a413165a	4adefa84-9ffb-4efe-9a7f-bf1e307f6932	g.chr14:94395229C>G	ENST00000267594.5	+	3	1091	c.784C>G	c.(784-786)Cct>Gct	p.P262A	FAM181A_ENST00000556222.1_Missense_Mutation_p.P200A|FAM181A_ENST00000557000.2_Missense_Mutation_p.P200A|FAM181A_ENST00000557719.1_Missense_Mutation_p.P200A|FAM181A-AS1_ENST00000554742.1_RNA	NM_001207073.1|NM_001207074.1|NM_138344.4	NP_001194002.1|NP_001194003.1|NP_612353.3	Q8N9Y4	F181A_HUMAN	family with sequence similarity 181, member A	262										cervix(1)|endometrium(2)|large_intestine(8)|lung(4)|prostate(1)|skin(2)	18						GCTCAAGATGCCTGGGGTCTC	0.617																																						ENST00000267594.5																			0				cervix(1)|endometrium(2)|large_intestine(8)|lung(4)|prostate(1)|skin(2)	18						c.(784-786)Cct>Gct		family with sequence similarity 181, member A							52	50	51					14																	94395229		2203	4300	6503	SO:0001583	missense	90050							g.chr14:94395229C>G	BC009073	CCDS9914.1, CCDS55939.1	14q32.12	2011-11-30	2008-07-22	2008-07-22	ENSG00000140067	ENSG00000140067			20491	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 152"	C14orf152			Standard	NM_138344		Approved		uc021saz.1	Q8N9Y4	OTTHUMG00000171297	ENST00000267594.5:c.784C>G	14.37:g.94395229C>G	ENSP00000267594:p.Pro262Ala					FAM181A_ENST00000556222.1_Missense_Mutation_p.P200A|FAM181A_ENST00000557719.1_Missense_Mutation_p.P200A|FAM181A_ENST00000557000.2_Missense_Mutation_p.P200A	p.P262A	NM_001207073.1|NM_001207074.1|NM_138344.4	NP_001194002.1|NP_001194003.1|NP_612353.3	Q8N9Y4	F181A_HUMAN			3	1091	+			262					B2RD39|Q96GY1	Missense_Mutation	SNP	ENST00000267594.5	37	c.784C>G	CCDS9914.1	.	.	.	.	.	.	.	.	.	.	C	12.36	1.913261	0.33815	.	.	ENSG00000140067	ENST00000557719;ENST00000267594;ENST00000556222;ENST00000554404;ENST00000557000	T;T;T;T	0.28666	1.6;1.6;1.6;1.6	4.74	2.81	0.32909	.	0.542224	0.15601	N	0.253913	T	0.22044	0.0531	L	0.40543	1.245	0.28716	N	0.903275	B	0.28419	0.211	B	0.23275	0.045	T	0.15009	-1.0452	10	0.54805	T	0.06	-0.4078	6.2699	0.20949	0.0:0.6691:0.1502:0.1807	.	262	Q8N9Y4	F181A_HUMAN	A	200;262;200;200;251	ENSP00000451802:P200A;ENSP00000267594:P262A;ENSP00000451678:P200A;ENSP00000452393:P200A	ENSP00000267594:P262A	P	+	1	0	FAM181A	93464982	0.998000	0.40836	0.994000	0.49952	0.799000	0.45148	1.150000	0.31639	0.369000	0.24510	0.561000	0.74099	CCT		0.617	FAM181A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000412840.1	NM_138344		2	13	0	0	0	1	0	2	13					G	94395229	C	G	94395229	3	3	211	1	0	0	0	0	1	0	0	0	5508	739	26	5	790	5	FAM181A	14	94395229	Missense_Mutation	SNP	C	TCGA-HC-7737-01A-11D-2114-08		94395229	12954311	21	9727											
AKAP13	11214	broad.mit.edu	37	chr15	86284686	86284686	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagctgcgccgggaggcagAgcggctcagccagcggcaga	8	2	18	13	4	1	2	1	0	0	2	1	3	1	3	2	4	5	5	2	4	0	0			TCGA-HC-7737-01A-11D-2114-08	TCGA-HC-7737-11A-02D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf98acc-736b-4af6-bdca-a320a413165a	4adefa84-9ffb-4efe-9a7f-bf1e307f6932	g.chr15:86284686A>G	ENST00000394518.2	+	35	8113	c.8018A>G	c.(8017-8019)gAg>gGg	p.E2673G	RP11-158M2.3_ENST00000558375.1_RNA|AKAP13_ENST00000394510.2_Missense_Mutation_p.E918G|AKAP13_ENST00000560579.1_3'UTR|AKAP13_ENST00000361243.2_Missense_Mutation_p.E2677G	NM_001270546.1|NM_007200.4	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN	A kinase (PRKA) anchor protein 13	2673	Interaction with ESR1.				apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nuclear export (GO:0051168)|positive regulation of apoptotic process (GO:0043065)|protein phosphorylation (GO:0006468)|regulation of cardiac muscle hypertrophy (GO:0010611)|regulation of glucocorticoid mediated signaling pathway (GO:1900169)|regulation of protein kinase activity (GO:0045859)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	cAMP-dependent protein kinase activity (GO:0004691)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|signal transducer activity (GO:0004871)			NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						CGGGAGGCAGAGCGGCTCAGC	0.572																																					Melanoma(94;603 1453 3280 32295 32951)	ENST00000394518.2																			0				NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						c.(8017-8019)gAg>gGg		A kinase (PRKA) anchor protein 13							34	33	33					15																	86284686		2201	4299	6500	SO:0001583	missense	11214				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane|membrane fraction|nucleus	cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity	g.chr15:86284686A>G	M90360	CCDS32319.1, CCDS32320.1, CCDS73778.1	15q24-q25	2013-01-10	2002-06-13			ENSG00000170776		"A-kinase anchor proteins", "Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	371	protein-coding gene	gene with protein product		604686	"lymphoid blast crisis oncogene"	LBC		9627117, 1860836	Standard	NM_007200		Approved	Ht31, BRX, AKAP-Lbc, c-lbc, PROTO-LB, HA-3, ARHGEF13	uc002blu.2	Q12802		ENST00000394518.2:c.8018A>G	15.37:g.86284686A>G	ENSP00000378026:p.Glu2673Gly					AKAP13_ENST00000394510.2_Missense_Mutation_p.E918G|AKAP13_ENST00000560579.1_3'UTR|AKAP13_ENST00000361243.2_Missense_Mutation_p.E2677G	p.E2673G	NM_001270546.1|NM_007200.3	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN			35	8113	+			2673			Interaction with ESR1.		Q14572|Q59FP6|Q86W90|Q8WXQ6|Q96JP6|Q96P79|Q9Y5T0|Q9Y5T6	Missense_Mutation	SNP	ENST00000394518.2	37	c.8018A>G	CCDS32319.1	.	.	.	.	.	.	.	.	.	.	A	11.21	1.571238	0.28003	.	.	ENSG00000170776	ENST00000361243;ENST00000394518;ENST00000394516;ENST00000458540;ENST00000394510	T;T;T	0.23147	1.92;1.92;1.92	5.45	4.33	0.51752	.	.	.	.	.	T	0.25680	0.0625	L	0.60455	1.87	0.23304	N	0.997946	B;B	0.14438	0.006;0.01	B;B	0.16722	0.007;0.016	T	0.18650	-1.0330	9	0.32370	T	0.25	.	9.0494	0.36367	0.9172:0.0:0.0828:0.0	.	2673;2677	Q12802;Q12802-2	AKP13_HUMAN;.	G	2677;2673;2676;2652;918	ENSP00000354718:E2677G;ENSP00000378026:E2673G;ENSP00000378018:E918G	ENSP00000354718:E2677G	E	+	2	0	AKAP13	84085690	1.000000	0.71417	0.816000	0.32577	0.316000	0.28119	3.042000	0.49815	0.914000	0.36822	0.533000	0.62120	GAG		0.572	AKAP13-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417318.1	NM_007200		5	34	0	0	0	1	0	5	34					G	86284686	A	G	86284686	3	3	211	1	0	0	0	0	1	0	0	0	449	304	11	4	8222	4	AKAP13	15	86284686	Missense_Mutation	SNP	A	TCGA-HC-7737-01A-11D-2114-08		86284686	16246706	22	9728											
GTF3C1	2975	broad.mit.edu	37	chr16	27475706	27475706	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gctgctcttggcctggggaaCtgaactcaccgacaccctct	7	9	10	15	1	3	1	1	1	2	0	3	3	3	2	3	3	3	2	3	3	2	1			TCGA-HC-7737-01A-11D-2114-08	TCGA-HC-7737-11A-02D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf98acc-736b-4af6-bdca-a320a413165a	4adefa84-9ffb-4efe-9a7f-bf1e307f6932	g.chr16:27475706C>A	ENST00000356183.4	-	34	5822	c.5807G>T	c.(5806-5808)aGt>aTt	p.S1936I	GTF3C1_ENST00000561623.1_Intron	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide 1, alpha 220kDa	1936					5S class rRNA transcription from RNA polymerase III type 1 promoter (GO:0042791)|gene expression (GO:0010467)|rRNA transcription (GO:0009303)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)|tRNA transcription (GO:0009304)|tRNA transcription from RNA polymerase III promoter (GO:0042797)	membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|transcription factor TFIIIC complex (GO:0000127)	DNA binding (GO:0003677)			breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						GCCTGGGGAACTGAACTCACC	0.667																																						ENST00000356183.4																			0				breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						c.(5806-5808)aGt>aTt		general transcription factor IIIC, polypeptide 1, alpha 220kDa							80	86	84					16																	27475706		2197	4300	6497	SO:0001583	missense	2975					transcription factor TFIIIC complex	DNA binding|protein binding	g.chr16:27475706C>A	U06485	CCDS32414.1, CCDS66988.1	16p12	2010-03-23	2002-08-29			ENSG00000077235		"General transcription factors"	4664	protein-coding gene	gene with protein product		603246	"general transcription factor IIIC, polypeptide 1 (alpha subunit, 220kD )"			8164661, 8127861	Standard	NM_001520		Approved	TFIIIC220	uc002dov.2	Q12789		ENST00000356183.4:c.5807G>T	16.37:g.27475706C>A	ENSP00000348510:p.Ser1936Ile					GTF3C1_ENST00000561623.1_Intron	p.S1936I	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN			34	5822	-			1936					B2RP21|Q12838|Q6DKN9|Q9Y4W9	Missense_Mutation	SNP	ENST00000356183.4	37	c.5807G>T	CCDS32414.1	.	.	.	.	.	.	.	.	.	.	C	9.655	1.142672	0.21205	.	.	ENSG00000077235	ENST00000356183	T	0.23754	1.89	3.87	0.406	0.16366	.	1.456400	0.03999	N	0.296234	T	0.20780	0.0500	L	0.56769	1.78	0.09310	N	1	P	0.41748	0.761	B	0.31751	0.135	T	0.29088	-1.0023	10	0.54805	T	0.06	-14.6307	2.3028	0.04166	0.2343:0.4351:0.0:0.3306	.	1936	Q12789	TF3C1_HUMAN	I	1936	ENSP00000348510:S1936I	ENSP00000348510:S1936I	S	-	2	0	GTF3C1	27383207	0.000000	0.05858	0.000000	0.03702	0.027000	0.11550	0.102000	0.15272	0.285000	0.22329	-0.521000	0.04368	AGT		0.667	GTF3C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433856.1	NM_001520		15	89	1	0	3.51602e-12	1	3.97865e-12	15	89					A	27475706	C	A	27475706	3	1	211	1	0	0	0	0	1	0	0	0	6872	565	20	5	538	5	GTF3C1	16	27475706	Missense_Mutation	SNP	C	TCGA-HC-7737-01A-11D-2114-08		27475706	62879047	23	9729											
EDC4	23644	broad.mit.edu	37	chr16	67913767	67913769	+	In_Frame_Del	DEL	CAG	CAG	-																															ccccagatcactgcctctccCagcagcagcagcagcggtag																										TCGA-HC-7737-01A-11D-2114-08	TCGA-HC-7737-11A-02D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf98acc-736b-4af6-bdca-a320a413165a	4adefa84-9ffb-4efe-9a7f-bf1e307f6932	g.chr16:67913767_67913769delCAG	ENST00000358933.5	+	16	2075_2077	c.1836_1838delCAG	c.(1834-1839)cccagc>ccc	p.S617del	AC040162.1_ENST00000408599.1_RNA|CTC-479C5.10_ENST00000572067.1_lincRNA	NM_014329.4	NP_055144.3	Q6P2E9	EDC4_HUMAN	enhancer of mRNA decapping 4	617	Ser-rich.				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)		CTGCCTCTCCcagcagcagcagc	0.611																																						ENST00000358933.5																			0				breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	41						c.(1834-1839)ccc>cc		enhancer of mRNA decapping 4																																				SO:0001651	inframe_deletion	23644				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding	g.chr16:67913767_67913769delCAG	U17474	CCDS10849.1	16q22.1	2008-02-05			ENSG00000038358	ENSG00000038358			17157	protein-coding gene	gene with protein product		606030				9067524	Standard	NM_014329		Approved	RCD-8, Ge-1, HEDLS	uc002eur.3	Q6P2E9	OTTHUMG00000137543	ENST00000358933.5:c.1836_1838delCAG	16.37:g.67913776_67913778delCAG	ENSP00000351811:p.Ser617del						p.PS612del	NM_014329.4	NP_055144.3	Q6P2E9	EDC4_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)	16	2075_2077	+		Ovarian(137;0.0563)	612			Ser-rich.		A6NGM1|A8K4T4|Q13025|Q13826|Q6ZR12|Q7Z6H7	In_Frame_Del	DEL	ENST00000358933.5	37	c.1836_1838delCAG	CCDS10849.1																																																																																				0.611	EDC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268874.2	NM_014329		7	68						7	68	---	---	---	---	-	67913769	CAG	-	67913767	7	5	211	1	0	1	0	1	0	0	0	0	4908	581	21	0	1898	0	EDC4	16	67913767	In_Frame_Del	DEL	CAG	TCGA-HC-7737-01A-11D-2114-08	40438061	67913767	22440986	24	9730											
ZNF599	148103	broad.mit.edu	37	chr19	35251088	35251088	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gcccacttcttgctaaacccTttcccacattccgtgcatgt	7	13	5	16	1	1	0	0	0	1	0	3	0	3	0	4	0	3	2	4	0	2	5			TCGA-HC-7737-01A-11D-2114-08	TCGA-HC-7737-11A-02D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf98acc-736b-4af6-bdca-a320a413165a	4adefa84-9ffb-4efe-9a7f-bf1e307f6932	g.chr19:35251088T>G	ENST00000329285.8	-	4	991	c.618A>C	c.(616-618)aaA>aaC	p.K206N		NM_001007248.2	NP_001007249.1	Q96NL3	ZN599_HUMAN	zinc finger protein 599	206					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|large_intestine(10)|lung(8)|ovary(1)|pancreas(1)|skin(1)	24	all_lung(56;1.13e-07)|Lung NSC(56;1.81e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.138)			TGCTAAACCCTTTCCCACATT	0.493																																						ENST00000329285.7																			0				endometrium(3)|large_intestine(10)|lung(8)|ovary(1)|pancreas(1)|skin(1)	24						c.(616-618)aaA>aaC		zinc finger protein 599							188	173	178					19																	35251088		2203	4300	6503	SO:0001583	missense	148103				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:35251088T>G	AK055225	CCDS32991.1	19q13.13	2013-01-08				ENSG00000153896		"Zinc fingers, C2H2-type", "-"	26408	protein-coding gene	gene with protein product							Standard	NM_001007248		Approved	FLJ30663	uc010edn.1	Q96NL3		ENST00000329285.8:c.618A>C	19.37:g.35251088T>G	ENSP00000333802:p.Lys206Asn						p.K206N	NM_001007248.2	NP_001007249.1	Q96NL3	ZN599_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.138)		4	991	-	all_lung(56;1.13e-07)|Lung NSC(56;1.81e-07)|Esophageal squamous(110;0.162)		206					Q569K0|Q5PRG1	Missense_Mutation	SNP	ENST00000329285.8	37	c.618A>C	CCDS32991.1	.	.	.	.	.	.	.	.	.	.	T	11.41	1.629107	0.28978	.	.	ENSG00000153896	ENST00000392231;ENST00000329285;ENST00000392229	T	0.36340	1.26	2.26	1.24	0.21308	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.52468	0.1736	M	0.80183	2.485	0.52099	D	0.999945	D	0.69078	0.997	D	0.64237	0.923	T	0.51624	-0.8682	9	0.87932	D	0	.	5.5801	0.17245	0.0:0.1522:0.0:0.8478	.	206	Q96NL3	ZN599_HUMAN	N	205;206;8	ENSP00000333802:K206N	ENSP00000333802:K206N	K	-	3	2	ZNF599	39942928	0.002000	0.14202	0.714000	0.30535	0.438000	0.31896	0.194000	0.17135	0.321000	0.23259	0.260000	0.18958	AAA		0.493	ZNF599-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460648.2	XM_086046		6	146	0	0	0	1	0	6	146					G	35251088	T	G	35251088	3	3	211	1	0	0	0	0	1	0	0	0	18026	1606	56	5	1152	5	ZNF599	19	35251088	Missense_Mutation	SNP	T	TCGA-HC-7737-01A-11D-2114-08		35251088	23877895	25	9731											
ZNF460	10794	broad.mit.edu	37	chr19	57803368	57803368	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agtgcgggaaggccttcaacCgcaggtcacccctcacaagg	10	5	12	14	2	3	0	3	0	0	0	3	1	3	1	4	4	2	1	4	4	3	1			TCGA-HC-7737-01A-11D-2114-08	TCGA-HC-7737-11A-02D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf98acc-736b-4af6-bdca-a320a413165a	4adefa84-9ffb-4efe-9a7f-bf1e307f6932	g.chr19:57803368C>T	ENST00000360338.3	+	3	1781	c.1459C>T	c.(1459-1461)Cgc>Tgc	p.R487C	ZNF460_ENST00000537645.1_Missense_Mutation_p.R446C	NM_006635.3	NP_006626.3	Q14592	ZN460_HUMAN	zinc finger protein 460	487					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(3)|large_intestine(2)|lung(9)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		GGCCTTCAACCGCAGGTCACC	0.537																																						ENST00000360338.3																			0				breast(1)|endometrium(3)|large_intestine(2)|lung(9)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(1459-1461)Cgc>Tgc		zinc finger protein 460							123	109	113					19																	57803368		2203	4300	6503	SO:0001583	missense	10794				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57803368C>T	X78931	CCDS12949.1	19q13.4	2013-01-08				ENSG00000197714		"Zinc fingers, C2H2-type", "-"	21628	protein-coding gene	gene with protein product		604755	"zinc finger protein 272"	ZNF272		15004467	Standard	NM_006635		Approved	HZF8	uc002qog.2	Q14592		ENST00000360338.3:c.1459C>T	19.37:g.57803368C>T	ENSP00000353491:p.Arg487Cys					ZNF460_ENST00000537645.1_Missense_Mutation_p.R446C	p.R487C	NM_006635.3	NP_006626.3	Q14592	ZN460_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)	3	1781	+		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)	487					A4FU64|B4DNX9|Q2VPC7|Q6VSF8	Missense_Mutation	SNP	ENST00000360338.3	37	c.1459C>T	CCDS12949.1	.	.	.	.	.	.	.	.	.	.	C	16.80	3.223345	0.58668	.	.	ENSG00000197714	ENST00000537645;ENST00000360338	T;T	0.16073	2.37;2.37	1.92	-0.462	0.12168	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.11495	0.0280	L	0.39397	1.21	0.09310	N	1	B	0.20164	0.042	B	0.15484	0.013	T	0.32877	-0.9890	9	0.54805	T	0.06	.	2.2162	0.03960	0.2413:0.3249:0.0:0.4338	.	487	Q14592	ZN460_HUMAN	C	446;487	ENSP00000446167:R446C;ENSP00000353491:R487C	ENSP00000353491:R487C	R	+	1	0	ZNF460	62495180	0.000000	0.05858	0.005000	0.12908	0.979000	0.70002	-4.506000	0.00223	-0.051000	0.13334	0.650000	0.86243	CGC		0.537	ZNF460-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465727.1	NM_006635		20	76	0	0	0	1	0	20	76					T	57803368	C	T	57803368	3	4	211	1	0	0	0	0	1	0	0	0	17921	652	23	2	1469	2	ZNF460	19	57803368	Missense_Mutation	SNP	C	TCGA-HC-7737-01A-11D-2114-08	22552280	57803368	1325615	26	9732											
ASCC2	84164	broad.mit.edu	37	chr22	30221102	30221102	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttccttgtgagtggacatgcGgaggaaggtgagaaaaacac	13	8	14	6	1	0	2	0	2	0	1	1	6	1	5	1	4	2	0	1	4	3	2			TCGA-HC-7737-01A-11D-2114-08	TCGA-HC-7737-11A-02D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf98acc-736b-4af6-bdca-a320a413165a	4adefa84-9ffb-4efe-9a7f-bf1e307f6932	g.chr22:30221102G>A	ENST00000397771.2	-	5	562	c.385C>T	c.(385-387)Cgc>Tgc	p.R129C	ASCC2_ENST00000307790.3_Missense_Mutation_p.R129C|ASCC2_ENST00000542393.1_Missense_Mutation_p.R76C			Q9H1I8	ASCC2_HUMAN	activating signal cointegrator 1 complex subunit 2	129					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)					endometrium(3)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(5;0.000103)|Epithelial(10;0.0169)|all cancers(5;0.0259)			GTGGACATGCGGAGGAAGGTG	0.572																																						ENST00000397771.2																			0				endometrium(3)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	18						c.(385-387)Cgc>Tgc		activating signal cointegrator 1 complex subunit 2							152	143	146					22																	30221102		2203	4300	6503	SO:0001583	missense	84164				regulation of transcription, DNA-dependent|transcription, DNA-dependent			g.chr22:30221102G>A	AY013289	CCDS13869.1, CCDS56226.1	22q12.1	2004-07-27			ENSG00000100325	ENSG00000100325			24103	protein-coding gene	gene with protein product	"ASC 1 complex subunit P100"	614216				12077347, 9847074	Standard	NM_032204		Approved	ASC1p100, FLJ21588, DKFZp586O0223	uc003agr.3	Q9H1I8	OTTHUMG00000067658	ENST00000397771.2:c.385C>T	22.37:g.30221102G>A	ENSP00000380877:p.Arg129Cys					ASCC2_ENST00000307790.3_Missense_Mutation_p.R129C|ASCC2_ENST00000542393.1_Missense_Mutation_p.R76C	p.R129C			Q9H1I8	ASCC2_HUMAN	OV - Ovarian serous cystadenocarcinoma(5;0.000103)|Epithelial(10;0.0169)|all cancers(5;0.0259)		5	562	-			129					B7Z8E0|F5H6J9|Q4TT54|Q8TAZ0|Q9H711|Q9H9D6	Missense_Mutation	SNP	ENST00000397771.2	37	c.385C>T	CCDS13869.1	.	.	.	.	.	.	.	.	.	.	G	19.12	3.766444	0.69878	.	.	ENSG00000100325	ENST00000307790;ENST00000397771;ENST00000542393;ENST00000431535;ENST00000412689	T;T;T;T;T	0.36699	1.24;1.24;1.24;1.24;1.24	5.85	5.85	0.93711	.	0.000000	0.85682	D	0.000000	T	0.64472	0.2601	M	0.85041	2.73	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.996;1.0	T	0.68838	-0.5303	10	0.87932	D	0	-16.435	14.6242	0.68608	0.0:0.0:0.8454:0.1546	.	76;129	F5H6J9;Q9H1I8	.;ASCC2_HUMAN	C	129;129;76;129;129	ENSP00000305502:R129C;ENSP00000380877:R129C;ENSP00000437570:R76C;ENSP00000412382:R129C;ENSP00000417032:R129C	ENSP00000305502:R129C	R	-	1	0	ASCC2	28551102	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.504000	0.45416	2.768000	0.95171	0.655000	0.94253	CGC		0.572	ASCC2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322127.1	NM_032204		4	118	0	0	0	1	0	4	118					A	30221102	G	A	30221102	3	1	211	1	0	0	0	0	1	0	0	0	1032	1116	39	2	1956	2	ASCC2	22	30221102	Missense_Mutation	SNP	G	TCGA-HC-7737-01A-11D-2114-08		30221102	21083464	27	9733											
MKL1	57591	broad.mit.edu	37	chr22	40816887	40816889	+	In_Frame_Del	DEL	TGC	TGC	-																															ggatggcctggtagttgtggTgctgctgctgctgctggttg																								rs200555648	byFrequency	TCGA-HC-7737-01A-11D-2114-08	TCGA-HC-7737-11A-02D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf98acc-736b-4af6-bdca-a320a413165a	4adefa84-9ffb-4efe-9a7f-bf1e307f6932	g.chr22:40816887_40816889delTGC	ENST00000355630.3	-	10	1433_1435	c.843_845delGCA	c.(841-846)cagcac>cac	p.Q281del	MKL1_ENST00000407029.1_In_Frame_Del_p.Q281del|MKL1_ENST00000402042.1_In_Frame_Del_p.Q231del|MKL1_ENST00000396617.3_In_Frame_Del_p.Q281del	NM_020831.3	NP_065882.1	Q969V6	MKL1_HUMAN	megakaryoblastic leukemia (translocation) 1	281	Gln-rich.				negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription via serum response element binding (GO:0010735)|smooth muscle cell differentiation (GO:0051145)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	actin binding (GO:0003779)|actin monomer binding (GO:0003785)|leucine zipper domain binding (GO:0043522)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	30						GTAGTTGTGGTGCTGCTGCTGCT	0.66			T	RBM15	acute megakaryocytic leukemia																																	ENST00000396617.3				Dom	yes		22	22q13	57591	T	megakaryoblastic leukemia (translocation) 1			L	RBM15		acute megakaryocytic leukemia		0				breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	30						c.(841-846)cac>ca		megakaryoblastic leukemia (translocation) 1																																				SO:0001651	inframe_deletion	57591				positive regulation of transcription from RNA polymerase II promoter|smooth muscle cell differentiation|transcription, DNA-dependent	cytoplasm|nucleus	actin monomer binding|leucine zipper domain binding|nucleic acid binding|transcription coactivator activity	g.chr22:40816887_40816889delTGC	AB037859	CCDS14003.1, CCDS74865.1, CCDS74866.1	22q13	2008-06-12			ENSG00000196588	ENSG00000196588			14334	protein-coding gene	gene with protein product	"megakaryocytic acute leukemia", "myocardin-related transcription factor A", "basic, SAP and coiled-coil domain"	606078				11431691, 12019265, 14970199	Standard	XM_005261692		Approved	KIAA1438, MAL, MRTF-A, BSAC	uc003ayw.1	Q969V6	OTTHUMG00000151146	ENST00000355630.3:c.843_845delGCA	22.37:g.40816896_40816898delTGC	ENSP00000347847:p.Gln281del					MKL1_ENST00000407029.1_In_Frame_Del_p.QH281del|MKL1_ENST00000402042.1_In_Frame_Del_p.QH231del|MKL1_ENST00000355630.3_In_Frame_Del_p.QH281del	p.QH281del			Q969V6	MKL1_HUMAN			10	1433_1435	-			281			Gln-rich.		Q8TCL1|Q96SC5|Q96SC6|Q9P2B0	In_Frame_Del	DEL	ENST00000355630.3	37	c.843_845delGCA	CCDS14003.1																																																																																				0.66	MKL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321522.1	NM_020831		7	86						7	86	---	---	---	---	-	40816889	TGC	-	40816887	7	5	211	1	0	1	0	1	0	0	0	0	9601	1696	59	0	1974	0	MKL1	22	40816887	In_Frame_Del	DEL	TGC	TCGA-HC-7737-01A-11D-2114-08	10595785	40816887	10487679	28	9734											
SCML2	10389	broad.mit.edu	37	chrX	18275111	18275111	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caaatgatgcactgttcactGgagggagctggatggaatga	12	9	14	6	0	1	2	1	2	0	0	1	6	1	6	0	4	2	3	0	4	2	1			TCGA-HC-7737-01A-11D-2114-08	TCGA-HC-7737-11A-02D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf98acc-736b-4af6-bdca-a320a413165a	4adefa84-9ffb-4efe-9a7f-bf1e307f6932	g.chrX:18275111G>A	ENST00000251900.4	-	11	1472	c.1313C>T	c.(1312-1314)cCa>cTa	p.P438L	SCML2_ENST00000398048.3_Missense_Mutation_p.P174L	NM_006089.2	NP_006080.1	Q9UQR0	SCML2_HUMAN	sex comb on midleg-like 2 (Drosophila)	438					anatomical structure morphogenesis (GO:0009653)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|PcG protein complex (GO:0031519)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	36	Hepatocellular(33;0.183)					ACTGTTCACTGGAGGGAGCTG	0.443																																					Esophageal Squamous(100;1252 1965 19021 35517)	ENST00000251900.4																			0				breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	36						c.(1312-1314)cCa>cTa		sex comb on midleg-like 2 (Drosophila)							130	112	118					X																	18275111		2203	4300	6503	SO:0001583	missense	10389				anatomical structure morphogenesis	PcG protein complex	DNA binding|sequence-specific DNA binding transcription factor activity	g.chrX:18275111G>A	Y18004	CCDS14185.1	Xp22	2013-01-10	2001-11-28		ENSG00000102098	ENSG00000102098		"Sterile alpha motif (SAM) domain containing"	10581	protein-coding gene	gene with protein product		300208	"sex comb on midleg (Drosophila)-like 2"			10331946	Standard	NM_006089		Approved		uc004cyl.2	Q9UQR0	OTTHUMG00000021212	ENST00000251900.4:c.1313C>T	X.37:g.18275111G>A	ENSP00000251900:p.Pro438Leu					SCML2_ENST00000398048.3_Missense_Mutation_p.P174L	p.P438L	NM_006089.2	NP_006080.1	Q9UQR0	SCML2_HUMAN			11	1472	-	Hepatocellular(33;0.183)		438					Q5JXE6|Q86U98|Q8IWD0|Q8NDP2|Q9UGC5	Missense_Mutation	SNP	ENST00000251900.4	37	c.1313C>T	CCDS14185.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.103313	0.76983	.	.	ENSG00000102098	ENST00000251900;ENST00000398048;ENST00000442000	T;T	0.40225	1.04;1.04	5.27	4.4	0.53042	.	0.381500	0.26887	N	0.021997	T	0.53433	0.1796	L	0.54323	1.7	0.58432	D	0.999998	P;D;P	0.61080	0.891;0.989;0.772	P;P;B	0.58780	0.526;0.845;0.439	T	0.47849	-0.9085	10	0.27785	T	0.31	.	15.0418	0.71796	0.0:0.139:0.861:0.0	.	406;174;438	B4DZR9;B4DRC2;Q9UQR0	.;.;SCML2_HUMAN	L	438;174;406	ENSP00000251900:P438L;ENSP00000381126:P174L	ENSP00000251900:P438L	P	-	2	0	SCML2	18185032	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	9.383000	0.97214	0.981000	0.38548	0.513000	0.50165	CCA		0.443	SCML2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055941.1	NM_006089		3	71	0	0	0	1	0	3	71					A	18275111	G	A	18275111	3	1	211	1	0	0	0	0	1	0	0	0	13910	1348	47	3	809	3	SCML2	23	18275111	Missense_Mutation	SNP	G	TCGA-HC-7737-01A-11D-2114-08		18275111	136995449	29	9735											
MAP3K15	389840	broad.mit.edu	37	chrX	19389184	19389185	+	Splice_Site	INS	-	-	A																															cctcaaaattttatttacctINSaaaaaaaaaaaaaataataa																								rs372545551		TCGA-HC-7737-01A-11D-2114-08	TCGA-HC-7737-11A-02D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf98acc-736b-4af6-bdca-a320a413165a	4adefa84-9ffb-4efe-9a7f-bf1e307f6932	g.chrX:19389184_19389185insA	ENST00000338883.4	-	24	3294		c.e24-2		MAP3K15_ENST00000518578.1_Splice_Site|MAP3K15_ENST00000469203.2_Splice_Site|MAP3K15_ENST00000359173.3_Splice_Site	NM_001001671.3	NP_001001671.3	Q6ZN16	M3K15_HUMAN	mitogen-activated protein kinase kinase kinase 15								ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|metal ion binding (GO:0046872)			NS(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(13)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42	Hepatocellular(33;0.183)					tttatttacctaaaaaaaaaaa	0.431																																						ENST00000338883.4																			0				NS(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(13)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42						c.e24-2		mitogen-activated protein kinase kinase kinase 15																																				SO:0001630	splice_region_variant	389840						ATP binding|MAP kinase kinase kinase activity|metal ion binding	g.chrX:19389184_19389185insA	AK131412		Xp22.12	2011-06-09			ENSG00000180815	ENSG00000180815		"Mitogen-activated protein kinase cascade / Kinase kinase kinases"	31689	protein-coding gene	gene with protein product		300820					Standard	NM_001001671		Approved	bA723P2.3, FLJ16518	uc022btq.1	Q6ZN16	OTTHUMG00000022724	ENST00000338883.4:c.3295-2->T	X.37:g.19389195_19389195dupA						MAP3K15_ENST00000469203.2_Splice_Site|MAP3K15_ENST00000359173.3_Splice_Site|MAP3K15_ENST00000518578.1_Splice_Site		NM_001001671.3	NP_001001671.3	Q6ZN16	M3K15_HUMAN			24	3294	-	Hepatocellular(33;0.183)							A2AI49|A2AI50|A6NJ61|Q5JPR4|Q6ZMV3	Splice_Site	INS	ENST00000338883.4	37																																																																																						0.431	MAP3K15-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001001671	Intron	5	9						5	9	---	---	---	---	A	19389185	-	A	19389184	8	5	211	1	0	1	1	0	0	0	1	0	9249	1536	53	0	672	0	MAP3K15	23	19389184	Splice_Site	INS	-	TCGA-HC-7737-01A-11D-2114-08	1114073	19389184	135881376	30	9736											
GPC3	2719	broad.mit.edu	37	chrX	133119384	133119386	+	In_Frame_Del	DEL	CGG	CGG	-																															acttggtgacaggtggcgtcCggcggcggcggcgggggctg																										TCGA-HC-7737-01A-11D-2114-08	TCGA-HC-7737-11A-02D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf98acc-736b-4af6-bdca-a320a413165a	4adefa84-9ffb-4efe-9a7f-bf1e307f6932	g.chrX:133119384_133119386delCGG	ENST00000370818.3	-	1	536_538	c.91_93delCCG	c.(91-93)ccgdel	p.P31del	GPC3_ENST00000543339.1_In_Frame_Del_p.P31del|GPC3_ENST00000394299.2_In_Frame_Del_p.P31del	NM_001164618.1|NM_004484.3	NP_001158090.1|NP_004475.1	P51654	GPC3_HUMAN	glypican 3	31					anatomical structure morphogenesis (GO:0009653)|anterior/posterior axis specification (GO:0009948)|body morphogenesis (GO:0010171)|bone mineralization (GO:0030282)|branching involved in ureteric bud morphogenesis (GO:0001658)|carbohydrate metabolic process (GO:0005975)|cell proliferation involved in metanephros development (GO:0072203)|chondroitin sulfate metabolic process (GO:0030204)|coronary vasculature development (GO:0060976)|embryonic hindlimb morphogenesis (GO:0035116)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|lung development (GO:0030324)|mesenchymal cell proliferation involved in ureteric bud development (GO:0072138)|mesonephric duct morphogenesis (GO:0072180)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of growth (GO:0045926)|negative regulation of smoothened signaling pathway (GO:0045879)|osteoclast differentiation (GO:0030316)|phototransduction, visible light (GO:0007603)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of endocytosis (GO:0045807)|positive regulation of glucose import (GO:0046326)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	anchored component of plasma membrane (GO:0046658)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	peptidyl-dipeptidase inhibitor activity (GO:0060422)			breast(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|prostate(1)|skin(2)	36	Acute lymphoblastic leukemia(192;0.000127)					AGGTGGCGTCCGGCGGCGGCGGC	0.69			"T, D, Mis, N, F, S"			Wilms tumour			Simpson-Golabi-Behmel syndrome																													ENST00000370818.3			yes	Rec/X		Simpson-Golabi-Behmel syndrome	X	Xq26.1	2719	"T, D, Mis, N, F, S"	glypican 3			O		Wilms tumour			0				breast(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|prostate(1)|skin(2)	36						c.(91-93)del		glypican 3																																				SO:0001651	inframe_deletion	2719	Simpson-Golabi-Behmel syndrome	Familial Cancer Database	SGBS		extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding|peptidyl-dipeptidase inhibitor activity	g.chrX:133119384_133119386delCGG	L47125	CCDS14638.1, CCDS55496.1	Xq26	2014-09-17			ENSG00000147257	ENSG00000147257		"Proteoglycans / Cell Surface : Glypicans"	4451	protein-coding gene	gene with protein product	"glypican proteoglycan 3"	300037		SDYS		8589713, 9787072	Standard	NM_004484		Approved	OCI-5, SGBS, SGBS1, SGB, DGSX	uc010nrn.2	P51654	OTTHUMG00000022448	ENST00000370818.3:c.91_93delCCG	X.37:g.133119393_133119395delCGG	ENSP00000359854:p.Pro31del					GPC3_ENST00000543339.1_In_Frame_Del_p.P31del|GPC3_ENST00000394299.2_In_Frame_Del_p.P31del	p.P31del	NM_001164618.1|NM_004484.3	NP_001158090.1|NP_004475.1	P51654	GPC3_HUMAN			1	536_538	-	Acute lymphoblastic leukemia(192;0.000127)		31					C9JLE3|G3V1R0|Q2L880|Q2L882	In_Frame_Del	DEL	ENST00000370818.3	37	c.91_93delCCG	CCDS14638.1																																																																																				0.69	GPC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058356.1	NM_004484		2	4						2	4	---	---	---	---	-	133119386	CGG	-	133119384	7	5	211	1	0	1	0	1	0	0	0	0	6599	639	23	0	1754	0	GPC3	23	133119384	In_Frame_Del	DEL	CGG	TCGA-HC-7737-01A-11D-2114-08	113730200	133119384	22151176	31	9737											
GJA8	2703	broad.mit.edu	37	chr1	147380382	147380382	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gggcacgcggtgcactacgtCcgcatggaggagaagcgcaa	10	4	16	11	5	0	1	0	0	0	1	1	3	1	2	1	4	3	4	1	4	3	1			TCGA-HC-7738-01A-11D-2114-08	TCGA-HC-7738-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af73b3d5-51db-4b4d-b56a-196c61830450	573b63e8-ecb6-4c86-932a-fd674800d592	g.chr1:147380382C>T	ENST00000369235.1	+	1	300	c.300C>T	c.(298-300)gtC>gtT	p.V100V	GJA8_ENST00000240986.4_Silent_p.V100V			P48165	CXA8_HUMAN	gap junction protein, alpha 8, 50kDa	100					cell-cell signaling (GO:0007267)|lens development in camera-type eye (GO:0002088)|protein homooligomerization (GO:0051260)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	connexon complex (GO:0005922)|integral component of plasma membrane (GO:0005887)	channel activity (GO:0015267)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)	37	all_hematologic(923;0.0276)					TGCACTACGTCCGCATGGAGG	0.657																																					Melanoma(76;1255 1795 8195 52096)	ENST00000240986.4																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)	37						c.(298-300)gtC>gtT		gap junction protein, alpha 8, 50kDa							86	75	79					1																	147380382		2203	4300	6503	SO:0001819	synonymous_variant	2703				cell communication|visual perception	connexon complex|integral to plasma membrane	channel activity	g.chr1:147380382C>T	U34802	CCDS30834.1	1q21.1	2008-02-05	2007-01-16		ENSG00000121634	ENSG00000121634		"Ion channels / Gap junction proteins (connexins)"	4281	protein-coding gene	gene with protein product	"connexin 50"	600897	"gap junction protein, alpha 8, 50kD (connexin 50)", "gap junction protein, alpha 8, 50kDa (connexin 50)"	CAE1, CZP1, CAE		9497259, 7796604	Standard	NM_005267		Approved	CX50	uc001epu.2	P48165	OTTHUMG00000024085	ENST00000369235.1:c.300C>T	1.37:g.147380382C>T						GJA8_ENST00000369235.1_Silent_p.V100V	p.V100V	NM_005267.4	NP_005258.2	P48165	CXA8_HUMAN			2	353	+	all_hematologic(923;0.0276)		100					A7L5M5|Q5VVN9|Q9NP25	Silent	SNP	ENST00000369235.1	37	c.300C>T	CCDS30834.1																																																																																				0.657	GJA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060647.1	NM_005267		17	66	0	0	0	1	0	17	66					T	147380382	C	T	147380382	2	4	212	1	0	0	0	0	0	0	0	1	6405	842	30	3		3	GJA8	1	147380382	Silent	SNP	C	TCGA-HC-7738-01A-11D-2114-08		147380382	101870239	1	9738											
RPTN	126638	broad.mit.edu	37	chr1	152128689	152128689	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcttgtctgtccgtctgacCgtagtgggaactctggcctt	4	14	12	11	2	4	1	0	1	4	0	5	2	5	2	3	2	1	1	3	2	2	3	rs201025925		TCGA-HC-7738-01A-11D-2114-08	TCGA-HC-7738-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af73b3d5-51db-4b4d-b56a-196c61830450	ef449499-0238-4585-afc7-fd792d26fe32	g.chr1:152128689C>T	ENST00000316073.3	-	3	950	c.886G>A	c.(886-888)Ggt>Agt	p.G296S		NM_001122965.1	NP_001116437.1	Q6XPR3	RPTN_HUMAN	repetin	296	Gln-rich.					cornified envelope (GO:0001533)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						TCCGTCTGACCGTAGTGGGAA	0.498													C|||	1	0.000199681	8e-04	0	5008	,	,		22400	0		0	False		,,,				2504	0					ENST00000316073.3																			0				breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						c.(886-888)Ggt>Agt		repetin							597	514	540					1																	152128689		1568	3582	5150	SO:0001583	missense	126638					proteinaceous extracellular matrix	calcium ion binding	g.chr1:152128689C>T	AK096436	CCDS41397.1	1q21.3	2013-01-10			ENSG00000215853	ENSG00000215853		"EF-hand domain containing"	26809	protein-coding gene	gene with protein product		613259				15854042	Standard	NM_001122965		Approved	FLJ39117	uc001ezs.1	Q6XPR3	OTTHUMG00000154095	ENST00000316073.3:c.886G>A	1.37:g.152128689C>T	ENSP00000317895:p.Gly296Ser						p.G296S	NM_001122965.1	NP_001116437.1	Q6XPR3	RPTN_HUMAN			3	950	-			296			Gln-rich.		B7ZBZ3	Missense_Mutation	SNP	ENST00000316073.3	37	c.886G>A	CCDS41397.1	3	0.0013736263736263737	3	0.006097560975609756	0	0.0	0	0.0	0	0.0	C	16.30	3.083172	0.55861	.	.	ENSG00000215853	ENST00000316073	T	0.12984	2.63	4.73	-0.515	0.11954	.	.	.	.	.	T	0.07098	0.0180	L	0.33792	1.035	0.09310	N	1	D	0.65815	0.995	P	0.54140	0.743	T	0.25398	-1.0133	9	0.49607	T	0.09	-8.2231	8.1514	0.31143	0.0:0.4582:0.0:0.5418	.	296	Q6XPR3	RPTN_HUMAN	S	296	ENSP00000317895:G296S	ENSP00000317895:G296S	G	-	1	0	RPTN	150395313	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	-0.770000	0.04705	0.098000	0.17522	-0.409000	0.06214	GGT		0.498	RPTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333867.1	XM_371312		9	616	0	0	0	1	0	9	616					T	152128689	C	T	152128689	3	4	212	1	0	0	0	0	1	0	0	0	13664	652	23	2	1472	2	RPTN	1	152128689	Missense_Mutation	SNP	C	TCGA-HC-7738-01A-11D-2114-08	4748307	152128689	97121932	2	9739											
ANGEL2	90806	broad.mit.edu	37	chr1	213186710	213186710	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tttgcagattctcccacggtGtagtccagtctctgcccaga	7	12	9	13	1	2	2	0	0	2	2	5	2	3	2	3	1	2	2	3	1	1	3			TCGA-HC-7738-01A-11D-2114-08	TCGA-HC-7738-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af73b3d5-51db-4b4d-b56a-196c61830450	573b63e8-ecb6-4c86-932a-fd674800d592	g.chr1:213186710G>A	ENST00000366962.3	-	2	264	c.110C>T	c.(109-111)aCa>aTa	p.T37I	ANGEL2_ENST00000360506.2_Intron|ANGEL2_ENST00000544555.1_Intron|ANGEL2_ENST00000535388.1_Intron|ANGEL2_ENST00000540642.1_Intron	NM_144567.3	NP_653168.2	Q5VTE6	ANGE2_HUMAN	angel homolog 2 (Drosophila)	37										central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(8)|skin(1)	24				OV - Ovarian serous cystadenocarcinoma(81;0.00446)|all cancers(67;0.0169)|Epithelial(68;0.0921)|GBM - Glioblastoma multiforme(131;0.185)		CTCCCACGGTGTAGTCCAGTC	0.458																																						ENST00000366962.3																			0				central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(8)|skin(1)	24						c.(109-111)aCa>aTa		angel homolog 2 (Drosophila)							123	122	122					1																	213186710		2203	4300	6503	SO:0001583	missense	90806							g.chr1:213186710G>A	AL079275	CCDS1512.1, CCDS73027.1	1q32.3	2014-06-17			ENSG00000174606	ENSG00000174606			30534	protein-coding gene	gene with protein product						11943475	Standard	XM_005273344		Approved	KIAA0759L, FLJ12793, Ccr4d	uc001hjz.3	Q5VTE6	OTTHUMG00000036927	ENST00000366962.3:c.110C>T	1.37:g.213186710G>A	ENSP00000355929:p.Thr37Ile					ANGEL2_ENST00000544555.1_Intron|ANGEL2_ENST00000360506.2_Intron|ANGEL2_ENST00000535388.1_Intron|ANGEL2_ENST00000540642.1_Intron	p.T37I	NM_144567.3	NP_653168.2	Q5VTE6	ANGE2_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.00446)|all cancers(67;0.0169)|Epithelial(68;0.0921)|GBM - Glioblastoma multiforme(131;0.185)	2	264	-			37					B7Z2U4|D3DTA3|Q86X13|Q8NHH3	Missense_Mutation	SNP	ENST00000366962.3	37	c.110C>T	CCDS1512.1	.	.	.	.	.	.	.	.	.	.	G	16.14	3.039629	0.55003	.	.	ENSG00000174606	ENST00000366962;ENST00000310246	T	0.25579	1.79	5.83	4.91	0.64330	.	0.246709	0.39834	N	0.001244	T	0.15869	0.0382	L	0.27053	0.805	0.80722	D	1	B;P	0.40731	0.1;0.728	B;B	0.35114	0.074;0.196	T	0.04153	-1.0973	10	0.40728	T	0.16	-4.3685	9.0719	0.36497	0.2181:0.0:0.7819:0.0	.	15;37	Q96AL9;Q5VTE6	.;ANGE2_HUMAN	I	37;15	ENSP00000355929:T37I	ENSP00000309755:T15I	T	-	2	0	ANGEL2	211253333	0.981000	0.34729	1.000000	0.80357	0.997000	0.91878	3.254000	0.51477	1.451000	0.47736	0.563000	0.77884	ACA		0.458	ANGEL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089693.1	NM_144567		4	141	0	0	0	1	0	4	141					A	213186710	G	A	213186710	3	1	212	1	0	0	0	0	1	0	0	0	609	1377	48	3	1556	3	ANGEL2	1	213186710	Missense_Mutation	SNP	G	TCGA-HC-7738-01A-11D-2114-08	61058021	213186710	36063911	3	9740											
FSHR	2492	broad.mit.edu	37	chr2	49190030	49190030	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgcatttcatagcagccacActtgctcagcagaatgaaga	13	10	8	10	0	2	3	2	1	0	2	2	3	2	3	1	0	5	4	1	0	3	4	rs201115329		TCGA-HC-7738-01A-11D-2114-08	TCGA-HC-7738-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af73b3d5-51db-4b4d-b56a-196c61830450	573b63e8-ecb6-4c86-932a-fd674800d592	g.chr2:49190030A>G	ENST00000406846.2	-	10	2049	c.1930T>C	c.(1930-1932)Tgt>Cgt	p.C644R	FSHR_ENST00000304421.4_Missense_Mutation_p.C618R|FSHR_ENST00000541117.1_Missense_Mutation_p.C380R|FSHR_ENST00000346173.3_Missense_Mutation_p.C582R	NM_000145.3	NP_000136.2	P23945	FSHR_HUMAN	follicle stimulating hormone receptor	644					female gamete generation (GO:0007292)|female gonad development (GO:0008585)|follicle-stimulating hormone signaling pathway (GO:0042699)|G-protein coupled receptor signaling pathway (GO:0007186)|gonad development (GO:0008406)|male gonad development (GO:0008584)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	follicle-stimulating hormone receptor activity (GO:0004963)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|liver(1)|lung(45)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	73		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Suramin(DB04786)|Urofollitropin(DB00094)	TAGCAGCCACACTTGCTCAGC	0.478									Gonadal Dysgenesis, 46 XX																													ENST00000406846.2																			0				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|liver(1)|lung(45)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	73						c.(1930-1932)Tgt>Cgt		follicle stimulating hormone receptor	Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Urofollitropin(DB00094)						85	85	85					2																	49190030		2203	4300	6503	SO:0001583	missense	0	Gonadal Dysgenesis, 46 XX	Familial Cancer Database		female gamete generation|male gonad development|spermatogenesis	integral to membrane|plasma membrane	follicle-stimulating hormone receptor activity|protein binding	g.chr2:49190030A>G		CCDS1843.1, CCDS1844.1, CCDS1844.2	2p21-p16	2014-09-17			ENSG00000170820	ENSG00000170820		"GPCR / Class A : Gonadotropin and TSH receptors"	3969	protein-coding gene	gene with protein product		136435		ODG1		8230163, 8855829	Standard	NM_000145		Approved	FSHRO, LGR1	uc002rww.3	P23945	OTTHUMG00000129259	ENST00000406846.2:c.1930T>C	2.37:g.49190030A>G	ENSP00000384708:p.Cys644Arg					FSHR_ENST00000304421.4_Missense_Mutation_p.C618R|FSHR_ENST00000541117.1_Missense_Mutation_p.C380R|FSHR_ENST00000346173.3_Missense_Mutation_p.C582R	p.C644R	NM_000145.3	NP_000136.2	P23945	FSHR_HUMAN	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		10	2049	-		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181)	644					A8K947|G5CBS7|G5E967|J3KQ00|Q05AH0|Q16225|Q4QRJ3|Q4ZFZ2|Q53RW2	Missense_Mutation	SNP	ENST00000406846.2	37	c.1930T>C	CCDS1843.1	.	.	.	.	.	.	.	.	.	.	A	11.09	1.535857	0.27475	.	.	ENSG00000170820	ENST00000406846;ENST00000346173;ENST00000304421;ENST00000541117	D;D;D;D	0.93906	-3.31;-3.31;-3.31;-3.31	5.35	5.35	0.76521	.	0.156979	0.64402	D	0.000017	D	0.87204	0.6119	N	0.24115	0.695	0.38331	D	0.943798	B;B;B	0.29508	0.246;0.134;0.246	B;B;B	0.25291	0.05;0.059;0.05	D	0.85678	0.1299	9	.	.	.	.	14.958	0.71131	1.0:0.0:0.0:0.0	.	618;582;644	Q05AH0;G5E967;P23945	.;.;FSHR_HUMAN	R	644;582;618;380	ENSP00000384708:C644R;ENSP00000333908:C582R;ENSP00000306780:C618R;ENSP00000444172:C380R	.	C	-	1	0	FSHR	49043534	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.722000	0.68485	2.371000	0.80710	0.533000	0.62120	TGT		0.478	FSHR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251367.2			9	45	0	0	0	1	0	9	45					G	49190030	A	G	49190030	3	3	212	1	0	0	0	0	1	0	0	0	6073	159	6	4	161	4	FSHR	2	49190030	Missense_Mutation	SNP	A	TCGA-HC-7738-01A-11D-2114-08		49190030	194009343	4	9741											
CCDC104	112942	broad.mit.edu	37	chr2	55746969	55746969	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agaagaagacgaggtggagtGggtagtggagagcatcgcgg	12	5	20	4	3	0	4	0	0	0	4	1	7	0	5	0	5	1	2	0	5	3	1			TCGA-HC-7738-01A-11D-2114-08	TCGA-HC-7738-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af73b3d5-51db-4b4d-b56a-196c61830450	573b63e8-ecb6-4c86-932a-fd674800d592	g.chr2:55746969G>T	ENST00000349456.4	+	1	180	c.32G>T	c.(31-33)tGg>tTg	p.W11L	CCDC104_ENST00000339012.3_Missense_Mutation_p.W11L|CCDC104_ENST00000406691.3_Missense_Mutation_p.W11L|CCDC104_ENST00000407816.3_Missense_Mutation_p.W11L|CCDC104_ENST00000403007.3_Missense_Mutation_p.W11L			Q96G28	CFA36_HUMAN		11										breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|liver(2)|lung(1)|ovary(2)	14			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			GAGGTGGAGTGGGTAGTGGAG	0.612																																						ENST00000349456.4																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|liver(2)|lung(1)|ovary(2)	14						c.(31-33)tGg>tTg		coiled-coil domain containing 104							92	99	97					2																	55746969		2203	4300	6503	SO:0001583	missense	112942							g.chr2:55746969G>T																												ENST00000349456.4:c.32G>T	2.37:g.55746969G>T	ENSP00000295117:p.Trp11Leu					CCDC104_ENST00000407816.3_Missense_Mutation_p.W11L|CCDC104_ENST00000339012.3_Missense_Mutation_p.W11L|CCDC104_ENST00000403007.3_Missense_Mutation_p.W11L|CCDC104_ENST00000406691.3_Missense_Mutation_p.W11L	p.W11L			Q96G28	CC104_HUMAN	LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)		1	180	+			11					Q53SF0|Q53ST9|Q6UY34	Missense_Mutation	SNP	ENST00000349456.4	37	c.32G>T	CCDS1854.2	.	.	.	.	.	.	.	.	.	.	G	32	5.136129	0.94517	.	.	ENSG00000163001	ENST00000339012;ENST00000406691;ENST00000349456;ENST00000407816;ENST00000403007	T;T;T;T;T	0.46819	0.86;0.86;0.86;0.86;0.86	5.76	5.76	0.90799	ADP-ribosylation factor-like 2-binding protein, domain (2);	0.052086	0.85682	D	0.000000	T	0.73489	0.3593	M	0.83384	2.64	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.75803	-0.3189	10	0.66056	D	0.02	.	19.97	0.97282	0.0:0.0:1.0:0.0	.	11;11	Q96G28;Q96G28-2	CC104_HUMAN;.	L	11	ENSP00000342699:W11L;ENSP00000385400:W11L;ENSP00000295117:W11L;ENSP00000385376:W11L;ENSP00000385972:W11L	ENSP00000342699:W11L	W	+	2	0	CCDC104	55600473	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	5.796000	0.69080	2.734000	0.93682	0.609000	0.83330	TGG		0.612	CCDC104-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319610.2			43	94	1	0	1.19403e-26	1	1.3357e-26	43	94					T	55746969	G	T	55746969	3	4	212	1	0	0	0	0	1	0	0	0	2739	1357	47	5	34	5	CCDC104	2	55746969	Missense_Mutation	SNP	G	TCGA-HC-7738-01A-11D-2114-08	6556939	55746969	187452404	5	9742											
GPR148	344561	broad.mit.edu	37	chr2	131487419	131487419	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgcgttctgttcctctgcaCagctctcattgccaactgtt	5	15	8	13	1	3	0	1	0	3	0	5	0	4	0	2	0	5	5	2	0	1	4			TCGA-HC-7738-01A-11D-2114-08	TCGA-HC-7738-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af73b3d5-51db-4b4d-b56a-196c61830450	573b63e8-ecb6-4c86-932a-fd674800d592	g.chr2:131487419C>T	ENST00000309926.4	+	1	777	c.695C>T	c.(694-696)aCa>aTa	p.T232I		NM_207364.2	NP_997247.2	Q8TDV2	GP148_HUMAN	G protein-coupled receptor 148	232						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(15)|skin(3)|upper_aerodigestive_tract(1)	27	Colorectal(110;0.1)					TTCCTCTGCACAGCTCTCATT	0.572																																						ENST00000309926.4																			0				NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(15)|skin(3)|upper_aerodigestive_tract(1)	27						c.(694-696)aCa>aTa		G protein-coupled receptor 148							142	137	138					2																	131487419		2203	4300	6503	SO:0001583	missense	344561					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr2:131487419C>T	AY255532	CCDS2163.1	2q21.2	2012-08-21			ENSG00000173302	ENSG00000173302		"GPCR / Class A : Orphans"	23623	protein-coding gene	gene with protein product						12679517	Standard	NM_207364		Approved	PGR6	uc002trv.2	Q8TDV2	OTTHUMG00000131655	ENST00000309926.4:c.695C>T	2.37:g.131487419C>T	ENSP00000308908:p.Thr232Ile						p.T232I	NM_207364.2	NP_997247.2	Q8TDV2	GP148_HUMAN			1	777	+	Colorectal(110;0.1)		232					Q2M369|Q86SP7|Q86U87	Missense_Mutation	SNP	ENST00000309926.4	37	c.695C>T	CCDS2163.1	.	.	.	.	.	.	.	.	.	.	.	3.246	-0.154212	0.06585	.	.	ENSG00000173302	ENST00000309926	T	0.36157	1.27	2.8	-0.439	0.12264	GPCR, rhodopsin-like superfamily (1);	0.811143	0.09930	U	0.737342	T	0.19644	0.0472	N	0.08118	0	0.09310	N	1	B	0.18013	0.025	B	0.21360	0.034	T	0.25537	-1.0129	10	0.59425	D	0.04	1.7294	9.6334	0.39793	0.0:0.7734:0.0:0.2266	.	232	Q8TDV2	GP148_HUMAN	I	232	ENSP00000308908:T232I	ENSP00000308908:T232I	T	+	2	0	GPR148	131203889	0.000000	0.05858	0.002000	0.10522	0.649000	0.38597	-0.072000	0.11486	-0.382000	0.07870	-0.628000	0.03992	ACA		0.572	GPR148-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254552.3	XM_293092		18	142	0	0	0	1	0	18	142					T	131487419	C	T	131487419	3	4	212	1	0	0	0	0	1	0	0	0	6653	478	17	3	697	3	GPR148	2	131487419	Missense_Mutation	SNP	C	TCGA-HC-7738-01A-11D-2114-08	75740450	131487419	111711954	6	9743											
PLA2R1	22925	broad.mit.edu	37	chr2	160918876	160918878	+	In_Frame_Del	DEL	CAG	CAG	-																															gcgcagccccgcggcgccccCagcagcagcagcagcagcag																										TCGA-HC-7738-01A-11D-2114-08	TCGA-HC-7738-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af73b3d5-51db-4b4d-b56a-196c61830450	573b63e8-ecb6-4c86-932a-fd674800d592	g.chr2:160918876_160918878delCAG	ENST00000283243.7	-	1	243_245	c.37_39delCTG	c.(37-39)ctgdel	p.L13del	PLA2R1_ENST00000392771.1_In_Frame_Del_p.L13del	NM_001195641.1|NM_007366.4	NP_001182570.1|NP_031392.3	Q13018	PLA2R_HUMAN	phospholipase A2 receptor 1, 180kDa	13					cytokine production (GO:0001816)|negative regulation of arachidonic acid secretion (GO:1900139)|negative regulation of phospholipase A2 activity (GO:1900138)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of arachidonic acid secretion (GO:0090238)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|reactive oxygen species metabolic process (GO:0072593)|receptor-mediated endocytosis (GO:0006898)|replicative senescence (GO:0090399)	cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	carbohydrate binding (GO:0030246)|phospholipase binding (GO:0043274)|receptor activity (GO:0004872)		PLA2R1/RBMS1(2)	central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(17)|lung(20)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	60						GCGGCGCCCCcagcagcagcagc	0.729																																						ENST00000283243.7																		PLA2R1/RBMS1(2)	0				central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(17)|lung(20)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	60						c.(37-39)del		phospholipase A2 receptor 1, 180kDa			,,	16,82,2566		4,0,8,17,48,1255					,,	-3.1	0			4	2,158,4972		0,1,1,22,113,2429	no	codingComplex,codingComplex,codingComplex	PLA2R1	NM_007366.4,NM_001195641.1,NM_001007267.2	,,	4,1,9,39,161,3684	A1A1,A1A2,A1R,A2A2,A2R,RR		3.1177,3.6787,3.3094	,,	,,		18,240,7538				SO:0001651	inframe_deletion	0				endocytosis	extracellular space|integral to plasma membrane	receptor activity|sugar binding	g.chr2:160918876_160918878delCAG	U17033	CCDS33309.1, CCDS42767.1	2q23-q24	2011-08-30	2002-08-29		ENSG00000153246	ENSG00000153246		"C-type lectin domain containing"	9042	protein-coding gene	gene with protein product		604939	"phospholipase A2 receptor 1, 180kD"			7721806, 7925459	Standard	NM_007366		Approved	PLA2G1R, PLA2IR, PLA2-R, CLEC13C	uc002ube.2	Q13018	OTTHUMG00000154087	ENST00000283243.7:c.37_39delCTG	2.37:g.160918885_160918887delCAG	ENSP00000283243:p.Leu13del					PLA2R1_ENST00000392771.1_In_Frame_Del_p.L13del	p.L13del	NM_001195641.1|NM_007366.4	NP_001182570.1|NP_031392.3	Q13018	PLA2R_HUMAN			1	243_245	-			13					B2RTU9|D3DPB1|Q13019|Q15095|Q53R45|Q53RR7	In_Frame_Del	DEL	ENST00000283243.7	37	c.37_39delCTG	CCDS33309.1																																																																																				0.729	PLA2R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333820.1			2	4						2	4	---	---	---	---	-	160918878	CAG	-	160918876	7	5	212	1	0	1	0	1	0	0	0	0	12010	581	21	0	4480	0	PLA2R1	2	160918876	In_Frame_Del	DEL	CAG	TCGA-HC-7738-01A-11D-2114-08	29431457	160918876	82280497	7	9744											
COL4A4	1286	broad.mit.edu	37	chr2	227896870	227896870	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	atgctacagcttacctggggGtcctgggggacctttctttc	5	13	12	11	0	1	0	0	0	1	0	3	1	2	1	3	4	4	2	3	4	2	4			TCGA-HC-7738-01A-11D-2114-08	TCGA-HC-7738-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af73b3d5-51db-4b4d-b56a-196c61830450	573b63e8-ecb6-4c86-932a-fd674800d592	g.chr2:227896870G>A	ENST00000396625.3	-	39	3907	c.3700C>T	c.(3700-3702)Ccc>Tcc	p.P1234S	COL4A4_ENST00000329662.7_Missense_Mutation_p.P1234S	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN	collagen, type IV, alpha 4	1234	Triple-helical region.				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glomerular basement membrane development (GO:0032836)	basal lamina (GO:0005605)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		TTACCTGGGGGTCCTGGGGGA	0.507																																						ENST00000396625.3																			0				breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98						c.(3700-3702)Ccc>Tcc		collagen, type IV, alpha 4							85	86	85					2																	227896870		1838	4091	5929	SO:0001583	missense	1286				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding	g.chr2:227896870G>A		CCDS42828.1	2q35-q37	2014-09-17			ENSG00000081052	ENSG00000081052		"Collagens"	2206	protein-coding gene	gene with protein product	"collagen of basement membrane, alpha-4 chain"	120131				1639407	Standard	NM_000092		Approved	CA44	uc021vxs.1	P53420	OTTHUMG00000149892	ENST00000396625.3:c.3700C>T	2.37:g.227896870G>A	ENSP00000379866:p.Pro1234Ser					COL4A4_ENST00000329662.7_Missense_Mutation_p.P1234S	p.P1234S	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)	39	3907	-		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)	1234			Triple-helical region.		A8MTZ1|Q53RW9|Q53S42|Q53WR1	Missense_Mutation	SNP	ENST00000396625.3	37	c.3700C>T	CCDS42828.1	.	.	.	.	.	.	.	.	.	.	G	3.977	-0.007289	0.07773	.	.	ENSG00000081052	ENST00000396625;ENST00000329662	D;D	0.96802	-4.13;-3.2	5.5	4.62	0.57501	.	.	.	.	.	D	0.92381	0.7582	N	0.21324	0.655	0.28626	N	0.907938	P	0.34892	0.474	B	0.40410	0.328	D	0.84558	0.0648	9	0.09338	T	0.73	.	12.3796	0.55299	0.0:0.1692:0.8308:0.0	.	1234	P53420	CO4A4_HUMAN	S	1234	ENSP00000379866:P1234S;ENSP00000328553:P1234S	ENSP00000328553:P1234S	P	-	1	0	COL4A4	227605114	0.872000	0.30054	0.717000	0.30585	0.024000	0.10985	1.486000	0.35530	1.323000	0.45263	0.650000	0.86243	CCC		0.507	COL4A4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313770.1	NM_000092		4	104	0	0	0	1	0	4	104					A	227896870	G	A	227896870	3	1	212	1	0	0	0	0	1	0	0	0	3693	1261	44	3	1412	3	COL4A4	2	227896870	Missense_Mutation	SNP	G	TCGA-HC-7738-01A-11D-2114-08	66977994	227896870	15302503	8	9745											
BRPF1	7862	broad.mit.edu	37	chr3	9776015	9776015	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	actccgcaagcacaagaaaaAggggcgccagtcacgcccag	14	2	11	14	3	1	1	1	0	0	1	2	1	2	1	3	2	1	2	3	2	4	0			TCGA-HC-7738-01A-11D-2114-08	TCGA-HC-7738-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af73b3d5-51db-4b4d-b56a-196c61830450	573b63e8-ecb6-4c86-932a-fd674800d592	g.chr3:9776015A>G	ENST00000457855.1	+	1	202	c.191A>G	c.(190-192)aAg>aGg	p.K64R	BRPF1_ENST00000424362.1_Missense_Mutation_p.K64R|BRPF1_ENST00000302054.3_Missense_Mutation_p.K64R|BRPF1_ENST00000383829.2_Missense_Mutation_p.K64R|BRPF1_ENST00000433861.2_Missense_Mutation_p.K64R			P55201	BRPF1_HUMAN	bromodomain and PHD finger containing, 1	64	Interaction with KAT6A and KAT6B.				chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	49	Medulloblastoma(99;0.227)					CACAAGAAAAAGGGGCGCCAG	0.572																																						ENST00000383829.2																			0				central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	49						c.(190-192)aAg>aGg		bromodomain and PHD finger containing, 1							183	210	201					3																	9776015		2203	4300	6503	SO:0001583	missense	7862				histone H3 acetylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|MOZ/MORF histone acetyltransferase complex|plasma membrane	DNA binding|zinc ion binding	g.chr3:9776015A>G	M91585	CCDS2575.1, CCDS33692.1	3p26-p25	2008-07-18			ENSG00000156983	ENSG00000156983			14255	protein-coding gene	gene with protein product	"peregrin", "bromodomain-containing protein, 140kD"	602410				8946209, 7906940	Standard	NM_001003694		Approved	BR140	uc003bsf.3	P55201	OTTHUMG00000097033	ENST00000457855.1:c.191A>G	3.37:g.9776015A>G	ENSP00000410210:p.Lys64Arg					BRPF1_ENST00000302054.3_Missense_Mutation_p.K64R|BRPF1_ENST00000433861.2_Missense_Mutation_p.K64R|BRPF1_ENST00000424362.1_Missense_Mutation_p.K64R|BRPF1_ENST00000457855.1_Missense_Mutation_p.K64R	p.K64R	NM_001003694.1	NP_001003694.1	P55201	BRPF1_HUMAN			2	595	+	Medulloblastoma(99;0.227)		64			Interaction with MYST3 and MYST4.		B4DEZ6|Q7Z6E0|Q8TCM6|Q9UHI0	Missense_Mutation	SNP	ENST00000457855.1	37	c.191A>G	CCDS2575.1	.	.	.	.	.	.	.	.	.	.	A	16.76	3.211859	0.58452	.	.	ENSG00000156983	ENST00000433861;ENST00000424362;ENST00000383829;ENST00000302054;ENST00000420291;ENST00000426583;ENST00000457855	T;T;T;T;T;T	0.49432	2.16;2.16;3.56;2.16;0.78;2.16	5.73	5.73	0.89815	.	0.051762	0.85682	D	0.000000	T	0.60612	0.2282	L	0.44542	1.39	0.58432	D	0.999993	B;B;B;D	0.69078	0.313;0.28;0.347;0.997	B;B;B;D	0.75020	0.269;0.082;0.146;0.985	T	0.59685	-0.7408	10	0.44086	T	0.13	.	14.9941	0.71415	1.0:0.0:0.0:0.0	.	64;64;64;64	P55201-4;P55201-3;P55201-2;P55201	.;.;.;BRPF1_HUMAN	R	64	ENSP00000402485:K64R;ENSP00000398863:K64R;ENSP00000373340:K64R;ENSP00000306297:K64R;ENSP00000404235:K64R;ENSP00000410210:K64R	ENSP00000306297:K64R	K	+	2	0	BRPF1	9751015	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	7.102000	0.77005	2.187000	0.69744	0.460000	0.39030	AAG		0.572	BRPF1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000338485.1	NM_001003694		3	172	0	0	0	1	0	3	172					G	9776015	A	G	9776015	3	3	212	1	0	0	0	0	1	0	0	0	1520	72	3	4	193	4	BRPF1	3	9776015	Missense_Mutation	SNP	A	TCGA-HC-7738-01A-11D-2114-08		9776015	188246415	9	9746											
NGLY1	55768	broad.mit.edu	37	chr3	25820147	25820147	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaaggctgtgtttccaatcCggatggatctatatttttca	11	15	8	7	1	2	0	1	0	1	0	4	2	4	2	2	3	0	2	2	3	5	5			TCGA-HC-7738-01A-11D-2114-08	TCGA-HC-7738-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af73b3d5-51db-4b4d-b56a-196c61830450	573b63e8-ecb6-4c86-932a-fd674800d592	g.chr3:25820147C>T	ENST00000280700.5	-	2	324	c.164G>A	c.(163-165)cGg>cAg	p.R55Q	NGLY1_ENST00000417874.2_Missense_Mutation_p.R13Q|NGLY1_ENST00000396649.3_Missense_Mutation_p.R55Q|NGLY1_ENST00000422724.2_5'UTR|NGLY1_ENST00000428257.1_Missense_Mutation_p.R55Q	NM_018297.3	NP_060767.2	Q96IV0	NGLY1_HUMAN	N-glycanase 1	55	PUB.				glycoprotein catabolic process (GO:0006516)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|peptide-N4-(N-acetyl-beta-glucosaminyl)asparagine amidase activity (GO:0000224)			breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(2)|skin(1)	18						GTTTCCAATCCGGATGGATCT	0.338																																						ENST00000428257.1																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(2)|skin(1)	18						c.(163-165)cGg>cAg		N-glycanase 1							108	112	110					3																	25820147		2203	4300	6503	SO:0001583	missense	55768				glycoprotein catabolic process	cytoplasm	metal ion binding|peptide-N4-(N-acetyl-beta-glucosaminyl)asparagine amidase activity|protein binding	g.chr3:25820147C>T	AF250924	CCDS33719.1, CCDS46777.1, CCDS46778.1, CCDS46779.1	3p23	2006-08-30			ENSG00000151092	ENSG00000151092			17646	protein-coding gene	gene with protein product		610661					Standard	NM_018297		Approved	FLJ11005, PNG1	uc003cdl.3	Q96IV0	OTTHUMG00000155600	ENST00000280700.5:c.164G>A	3.37:g.25820147C>T	ENSP00000280700:p.Arg55Gln					NGLY1_ENST00000280700.5_Missense_Mutation_p.R55Q|NGLY1_ENST00000417874.2_Missense_Mutation_p.R13Q|NGLY1_ENST00000396649.3_Missense_Mutation_p.R55Q|NGLY1_ENST00000422724.2_5'UTR	p.R55Q	NM_001145293.1	NP_001138765.1	Q96IV0	NGLY1_HUMAN			2	271	-			55			PUB.		B4DJE9|Q59FB1|Q6PJD8|Q9BVR8|Q9NR70	Missense_Mutation	SNP	ENST00000280700.5	37	c.164G>A	CCDS33719.1	.	.	.	.	.	.	.	.	.	.	C	35	5.582607	0.96578	.	.	ENSG00000151092	ENST00000428257;ENST00000280700;ENST00000396649;ENST00000308710;ENST00000417874	T;T;T;T;T	0.46451	0.87;0.87;0.87;0.87;1.07	5.43	5.43	0.79202	PUG domain (1);PUB domain (1);	0.000000	0.85682	D	0.000000	T	0.72771	0.3502	M	0.90977	3.165	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;0.988;1.0	D;D;B;D	0.79108	0.992;0.912;0.426;0.954	T	0.78922	-0.2013	10	0.72032	D	0.01	-16.0251	18.3731	0.90413	0.0:1.0:0.0:0.0	.	13;55;55;55	B4DJE9;Q96IV0-2;Q96IV0-3;Q96IV0	.;.;.;NGLY1_HUMAN	Q	55;55;55;52;13	ENSP00000387430:R55Q;ENSP00000280700:R55Q;ENSP00000379886:R55Q;ENSP00000307980:R52Q;ENSP00000389888:R13Q	ENSP00000280700:R55Q	R	-	2	0	NGLY1	25795151	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.296000	0.65698	2.703000	0.92315	0.650000	0.86243	CGG		0.338	NGLY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340832.2			31	72	0	0	0	1	0	31	72					T	25820147	C	T	25820147	3	4	212	1	0	0	0	0	1	0	0	0	10398	652	23	2	1940	2	NGLY1	3	25820147	Missense_Mutation	SNP	C	TCGA-HC-7738-01A-11D-2114-08	16044132	25820147	172202283	10	9747											
VILL	50853	broad.mit.edu	37	chr3	38047428	38047428	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccatgagcctcccaccttcaTtggatggttcttcacttggg	6	13	9	13	0	3	1	2	1	1	0	4	2	4	2	4	3	1	1	4	3	0	5	rs142814627		TCGA-HC-7738-01A-11D-2114-08	TCGA-HC-7738-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af73b3d5-51db-4b4d-b56a-196c61830450	573b63e8-ecb6-4c86-932a-fd674800d592	g.chr3:38047428T>C	ENST00000283713.6	+	17	2362	c.2096T>C	c.(2095-2097)aTt>aCt	p.I699T	VILL_ENST00000383759.2_Missense_Mutation_p.I699T|VILL_ENST00000465644.1_Missense_Mutation_p.I417T			O15195	VILL_HUMAN	villin-like	699					actin filament capping (GO:0051693)|cytoskeleton organization (GO:0007010)	actin cytoskeleton (GO:0015629)	structural constituent of cytoskeleton (GO:0005200)			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|stomach(3)|urinary_tract(2)	28				KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)		CCCACCTTCATTGGATGGTTC	0.612													T|||	1	0.000199681	0	0.0014	5008	,	,		19700	0		0	False		,,,				2504	0					ENST00000283713.6																			0				cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|stomach(3)|urinary_tract(2)	28						c.(2095-2097)aTt>aCt		villin-like		T	THR/ILE	0,4406		0,0,2203	95	92	93		2096	2.5	0.6	3	dbSNP_134	93	8,8592	6.4+/-24.3	0,8,4292	yes	missense	VILL	NM_015873.3	89	0,8,6495	CC,CT,TT		0.093,0.0,0.0615	benign	699/857	38047428	8,12998	2203	4300	6503	SO:0001583	missense	50853				actin filament capping|cytoskeleton organization	actin cytoskeleton	actin binding|structural constituent of cytoskeleton	g.chr3:38047428T>C		CCDS2670.2	3p21	2004-07-28			ENSG00000136059	ENSG00000136059			30906	protein-coding gene	gene with protein product						9179494	Standard	XM_005265191		Approved		uc003chl.3	O15195	OTTHUMG00000130814	ENST00000283713.6:c.2096T>C	3.37:g.38047428T>C	ENSP00000283713:p.Ile699Thr					VILL_ENST00000465644.1_Missense_Mutation_p.I417T|VILL_ENST00000383759.2_Missense_Mutation_p.I699T	p.I699T			O15195	VILL_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)	17	2362	+			699					A8MZP1|Q9BT80|Q9BWH7	Missense_Mutation	SNP	ENST00000283713.6	37	c.2096T>C	CCDS2670.2	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	T	1.463	-0.561859	0.03939	0.0	9.3E-4	ENSG00000136059	ENST00000283713;ENST00000383759;ENST00000356246;ENST00000465644	T;T;T	0.56444	0.46;0.46;0.46	4.26	2.45	0.29901	Gelsolin domain (1);	0.160595	0.53938	N	0.000041	T	0.15782	0.0380	N	0.00563	-1.375	0.22675	N	0.998865	B	0.02656	0.0	B	0.01281	0.0	T	0.35351	-0.9792	10	0.02654	T	1	-1.6107	10.3836	0.44125	0.0:0.8337:0.0:0.1663	.	699	O15195	VILL_HUMAN	T	699;699;685;417	ENSP00000283713:I699T;ENSP00000373266:I699T;ENSP00000422096:I417T	ENSP00000283713:I699T	I	+	2	0	VILL	38022432	0.998000	0.40836	0.612000	0.29024	0.791000	0.44710	3.994000	0.56994	0.380000	0.24823	-0.414000	0.06135	ATT		0.612	VILL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253360.3	NM_015873		47	88	0	0	0	1	0	47	88					C	38047428	T	C	38047428	3	2	212	1	0	0	0	0	1	0	0	0	17162	1493	52	4	2158	4	VILL	3	38047428	Missense_Mutation	SNP	T	TCGA-HC-7738-01A-11D-2114-08	12227281	38047428	159975002	11	9748											
CTNNB1	1499	broad.mit.edu	37	chr3	41266124	41266124	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gaatccattctggtgccactAccacagctccttctctgagt	8	12	7	14	0	2	1	0	1	2	0	5	2	4	1	4	1	3	1	4	1	2	3	rs121913412		TCGA-HC-7738-01A-11D-2114-08	TCGA-HC-7738-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af73b3d5-51db-4b4d-b56a-196c61830450	573b63e8-ecb6-4c86-932a-fd674800d592	g.chr3:41266124A>G	ENST00000349496.5	+	3	401	c.121A>G	c.(121-123)Acc>Gcc	p.T41A	CTNNB1_ENST00000396183.3_Missense_Mutation_p.T41A|CTNNB1_ENST00000396185.3_Missense_Mutation_p.T41A|CTNNB1_ENST00000405570.1_Missense_Mutation_p.T41A|CTNNB1_ENST00000453024.1_Missense_Mutation_p.T34A	NM_001904.3	NP_001895.1	P35222	CTNB1_HUMAN	catenin (cadherin-associated protein), beta 1, 88kDa	41			T -> A (in hepatoblastoma and hepatocellular carcinoma; also in a desmoid tumor; strongly reduces phosphorylation and degradation; abolishes phosphorylation on Ser-33 and Ser-37 and enhances transactivation of target genes). {ECO:0000269|PubMed:10391090, ECO:0000269|PubMed:10398436, ECO:0000269|PubMed:10435629, ECO:0000269|PubMed:10655994, ECO:0000269|PubMed:9927029}.|T -> I (in PTR, hepatocellular carcinoma and ovarian cancer). {ECO:0000269|PubMed:10192393, ECO:0000269|PubMed:10391090, ECO:0000269|PubMed:10435629}.		adherens junction assembly (GO:0034333)|androgen receptor signaling pathway (GO:0030521)|anterior/posterior axis specification (GO:0009948)|apoptotic process (GO:0006915)|bone resorption (GO:0045453)|branching involved in ureteric bud morphogenesis (GO:0001658)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|canonical Wnt signaling pathway involved in positive regulation of cardiac outflow tract cell proliferation (GO:0061324)|canonical Wnt signaling pathway involved in positive regulation of epithelial to mesenchymal transition (GO:0044334)|cell adhesion (GO:0007155)|cell fate specification (GO:0001708)|cell maturation (GO:0048469)|cell-matrix adhesion (GO:0007160)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to growth factor stimulus (GO:0071363)|cellular response to indole-3-methanol (GO:0071681)|cellular response to mechanical stimulus (GO:0071260)|central nervous system vasculogenesis (GO:0022009)|cytoskeletal anchoring at plasma membrane (GO:0007016)|determination of dorsal/ventral asymmetry (GO:0048262)|dorsal/ventral axis specification (GO:0009950)|ectoderm development (GO:0007398)|embryonic axis specification (GO:0000578)|embryonic digit morphogenesis (GO:0042733)|embryonic foregut morphogenesis (GO:0048617)|embryonic forelimb morphogenesis (GO:0035115)|embryonic heart tube development (GO:0035050)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal limb joint morphogenesis (GO:0036023)|endodermal cell fate commitment (GO:0001711)|endothelial tube morphogenesis (GO:0061154)|epithelial cell differentiation involved in prostate gland development (GO:0060742)|epithelial to mesenchymal transition (GO:0001837)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|fungiform papilla formation (GO:0061198)|gastrulation with mouth forming second (GO:0001702)|genitalia morphogenesis (GO:0035112)|glial cell fate determination (GO:0007403)|hair cell differentiation (GO:0035315)|hair follicle morphogenesis (GO:0031069)|hair follicle placode formation (GO:0060789)|hindbrain development (GO:0030902)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|layer formation in cerebral cortex (GO:0021819)|lens morphogenesis in camera-type eye (GO:0002089)|liver development (GO:0001889)|lung cell differentiation (GO:0060479)|lung induction (GO:0060492)|lung-associated mesenchyme development (GO:0060484)|male genitalia development (GO:0030539)|mesenchymal cell proliferation involved in lung development (GO:0060916)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|midgut development (GO:0007494)|muscle cell differentiation (GO:0042692)|myoblast differentiation (GO:0045445)|negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of heart induction by canonical Wnt signaling pathway (GO:0003136)|negative regulation of neuron death (GO:1901215)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein sumoylation (GO:0033234)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nephron tubule formation (GO:0072079)|neural plate development (GO:0001840)|neuron migration (GO:0001764)|odontogenesis of dentin-containing tooth (GO:0042475)|oocyte development (GO:0048599)|osteoclast differentiation (GO:0030316)|oviduct development (GO:0060066)|pancreas development (GO:0031016)|patterning of blood vessels (GO:0001569)|positive regulation of apoptotic process (GO:0043065)|positive regulation of branching involved in lung morphogenesis (GO:0061047)|positive regulation of determination of dorsal identity (GO:2000017)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of epithelial cell proliferation involved in prostate gland development (GO:0060769)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of fibroblast growth factor receptor signaling pathway (GO:0045743)|positive regulation of heparan sulfate proteoglycan biosynthetic process (GO:0010909)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein heterooligomerization (GO:0051291)|protein localization to cell surface (GO:0034394)|proximal/distal pattern formation (GO:0009954)|regulation of angiogenesis (GO:0045765)|regulation of calcium ion import (GO:0090279)|regulation of centriole-centriole cohesion (GO:0030997)|regulation of centromeric sister chromatid cohesion (GO:0070602)|regulation of fibroblast proliferation (GO:0048145)|regulation of myelination (GO:0031641)|regulation of nephron tubule epithelial cell differentiation (GO:0072182)|regulation of protein localization to cell surface (GO:2000008)|regulation of secondary heart field cardioblast proliferation (GO:0003266)|regulation of smooth muscle cell proliferation (GO:0048660)|regulation of T cell proliferation (GO:0042129)|renal inner medulla development (GO:0072053)|renal outer medulla development (GO:0072054)|renal vesicle formation (GO:0072033)|response to cadmium ion (GO:0046686)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|Schwann cell proliferation (GO:0014010)|single organismal cell-cell adhesion (GO:0016337)|smooth muscle cell differentiation (GO:0051145)|synapse organization (GO:0050808)|synaptic vesicle transport (GO:0048489)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tongue morphogenesis (GO:0043587)|trachea formation (GO:0060440)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	adherens junction (GO:0005912)|apical part of cell (GO:0045177)|basolateral plasma membrane (GO:0016323)|beta-catenin destruction complex (GO:0030877)|beta-catenin-TCF7L2 complex (GO:0070369)|catenin complex (GO:0016342)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cell periphery (GO:0071944)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|membrane (GO:0016020)|microvillus membrane (GO:0031528)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein-DNA complex (GO:0032993)|Scrib-APC-beta-catenin complex (GO:0034750)|synapse (GO:0045202)|tight junction (GO:0005923)|transcription factor complex (GO:0005667)|Z disc (GO:0030018)|zonula adherens (GO:0005915)	alpha-catenin binding (GO:0045294)|androgen receptor binding (GO:0050681)|cadherin binding (GO:0045296)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|estrogen receptor binding (GO:0030331)|I-SMAD binding (GO:0070411)|ion channel binding (GO:0044325)|kinase binding (GO:0019900)|nuclear hormone receptor binding (GO:0035257)|protein C-terminus binding (GO:0008022)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|R-SMAD binding (GO:0070412)|RNA polymerase II activating transcription factor binding (GO:0001102)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|SMAD binding (GO:0046332)|structural molecule activity (GO:0005198)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)	p.T41A(550)|p.A5_A80del(53)|p.A5_Q143del(7)|p.A5_A80>D(7)|p.T41P(6)|p.Q28_H134del(5)|p.?(4)|p.W25_I140del(3)|p.T41S(3)|p.T3_A126del(2)|p.A5fs*7(2)|p.D32_S47del(2)|p.M5_N141>D(2)|p.L10_N141del(2)|p.A5_Y142>D(2)|p.A5_Q143>E(1)|p.S37_G48>C(1)|p.A13_R151del(1)|p.H36_E53>L(1)|p.M14_S45del(1)|p.T40_L46del(1)|p.A20_N141del(1)|p.T41_N51del(1)|p.M1_A87del(1)|p.D11_Y142>H(1)|p.I35_T41del(1)|p.I35_K170del(1)|p.Y30_A97del(1)|p.V22_T102del(1)|p.A20_A80del(1)|p.V22_S71>A(1)|p.Q28_A43del(1)|p.A5_T59del(1)|p.M1_V173del(1)|p.E15_I140>V(1)|p.H24_M131del(1)|p.A21_A80del(1)|p.A5_T40del(1)|p.A5_E54del(1)|p.M8_A80del(1)|p.P16_K133del(1)|p.V22_Y64del(1)|p.Q28_Q61del(1)|p.A20_S111del(1)|p.A39_T42del(1)|p.Y30_A80del(1)	CTNNB1/PLAG1(60)	NS(4)|adrenal_gland(103)|biliary_tract(43)|bone(21)|breast(7)|central_nervous_system(260)|cervix(9)|endometrium(293)|eye(1)|haematopoietic_and_lymphoid_tissue(60)|kidney(202)|large_intestine(269)|liver(1010)|lung(63)|oesophagus(6)|ovary(106)|pancreas(126)|parathyroid(11)|pituitary(111)|pleura(2)|prostate(31)|salivary_gland(13)|skin(103)|small_intestine(17)|soft_tissue(792)|stomach(165)|thyroid(55)|upper_aerodigestive_tract(2)|urinary_tract(8)	3893				KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294)		TGGTGCCACTACCACAGCTCC	0.507	T41A(CCK81_LARGE_INTESTINE)	15	"H, Mis, T"	PLAG1	"colorectal, cvarian,  hepatoblastoma, others, pleomorphic salivary adenoma"				Pilomatrixoma, Familial Clustering of																												Colon(6;3 56 14213 18255)	ENST00000349496.5	T41A(CCK81_LARGE_INTESTINE)	15		Dom	yes		3	3p22-p21.3	1499	"H, Mis, T"	"catenin (cadherin-associated protein), beta 1"			"E, M, O"	PLAG1		"colorectal, cvarian,  hepatoblastoma, others, pleomorphic salivary adenoma"	CTNNB1/PLAG1(60)	681	Substitution - Missense(559)|Deletion - In frame(96)|Complex - deletion inframe(17)|Unknown(7)|Deletion - Frameshift(2)	p.T41A(550)|p.A5_A80del(53)|p.A5_Q143del(7)|p.A5_A80>D(7)|p.T41P(6)|p.Q28_H134del(5)|p.?(4)|p.W25_I140del(3)|p.T41S(3)|p.T3_A126del(2)|p.A5fs*7(2)|p.D32_S47del(2)|p.M5_N141>D(2)|p.L10_N141del(2)|p.A5_Y142>D(2)|p.A5_Q143>E(1)|p.S37_G48>C(1)|p.A13_R151del(1)|p.H36_E53>L(1)|p.M14_S45del(1)|p.T40_L46del(1)|p.A20_N141del(1)|p.T41_N51del(1)|p.M1_A87del(1)|p.D11_Y142>H(1)|p.I35_T41del(1)|p.I35_K170del(1)|p.Y30_A97del(1)|p.V22_T102del(1)|p.A20_A80del(1)|p.V22_S71>A(1)|p.Q28_A43del(1)|p.A5_T59del(1)|p.M1_V173del(1)|p.E15_I140>V(1)|p.H24_M131del(1)|p.A21_A80del(1)|p.A5_T40del(1)|p.A5_E54del(1)|p.M8_A80del(1)|p.P16_K133del(1)|p.V22_Y64del(1)|p.Q28_Q61del(1)|p.A20_S111del(1)|p.A39_T42del(1)|p.Y30_A80del(1)	soft_tissue(387)|liver(158)|large_intestine(61)|endometrium(17)|kidney(11)|stomach(8)|biliary_tract(7)|ovary(6)|small_intestine(4)|lung(4)|prostate(4)|adrenal_gland(3)|haematopoietic_and_lymphoid_tissue(3)|skin(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|salivary_gland(1)|pituitary(1)|pancreas(1)	NS(4)|adrenal_gland(103)|biliary_tract(43)|bone(21)|breast(7)|central_nervous_system(260)|cervix(9)|endometrium(293)|eye(1)|haematopoietic_and_lymphoid_tissue(60)|kidney(202)|large_intestine(269)|liver(1010)|lung(63)|oesophagus(6)|ovary(106)|pancreas(126)|parathyroid(11)|pituitary(111)|pleura(2)|prostate(31)|salivary_gland(13)|skin(103)|small_intestine(17)|soft_tissue(792)|stomach(165)|thyroid(55)|upper_aerodigestive_tract(2)|urinary_tract(8)	3893						c.(121-123)Acc>Gcc		catenin (cadherin-associated protein), beta 1, 88kDa	Lithium(DB01356)						89	77	81					3																	41266124		2203	4300	6503	SO:0001583	missense	1499	Pilomatrixoma, Familial Clustering of	Familial Cancer Database	Pilomatricoma, Familial Clustering of, Epithelioma Calcificans of Malherbe	adherens junction assembly|androgen receptor signaling pathway|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway involved in negative regulation of apoptosis|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell-cell adhesion|cell-matrix adhesion|cellular component disassembly involved in apoptosis|cellular response to growth factor stimulus|cellular response to indole-3-methanol|central nervous system vasculogenesis|cytoskeletal anchoring at plasma membrane|determination of dorsal/ventral asymmetry|dorsal/ventral axis specification|ectoderm development|embryonic axis specification|embryonic foregut morphogenesis|embryonic leg joint morphogenesis|endodermal cell fate commitment|endothelial tube morphogenesis|epithelial to mesenchymal transition|gastrulation with mouth forming second|glial cell fate determination|hair follicle morphogenesis|hair follicle placode formation|hindbrain development|liver development|lung cell differentiation|lung induction|lung-associated mesenchyme development|male genitalia development|mesenchymal cell proliferation involved in lung development|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of osteoclast differentiation|negative regulation of transcription from RNA polymerase II promoter|nephron tubule formation|odontogenesis of dentine-containing tooth|oocyte development|pancreas development|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of branching involved in lung morphogenesis|positive regulation of epithelial cell proliferation involved in prostate gland development|positive regulation of fibroblast growth factor receptor signaling pathway|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of muscle cell differentiation|positive regulation of osteoblast differentiation|positive regulation of transcription from RNA polymerase II promoter|protein localization at cell surface|proximal/distal pattern formation|regulation of angiogenesis|regulation of calcium ion import|regulation of centriole-centriole cohesion|regulation of centromeric sister chromatid cohesion|regulation of fibroblast proliferation|regulation of nephron tubule epithelial cell differentiation|regulation of protein localization at cell surface|regulation of smooth muscle cell proliferation|regulation of T cell proliferation|renal inner medulla development|renal outer medulla development|renal vesicle formation|response to drug|response to estradiol stimulus|Schwann cell proliferation|smooth muscle cell differentiation|synapse organization|synaptic vesicle transport|T cell differentiation in thymus|thymus development|trachea formation	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin-TCF7L2 complex|catenin complex|cell cortex|cell-substrate adherens junction|centrosome|dendritic shaft|desmosome|fascia adherens|internal side of plasma membrane|lamellipodium|lateral plasma membrane|microvillus membrane|perinuclear region of cytoplasm|protein-DNA complex|synapse|transcription factor complex|Z disc|zonula adherens	alpha-catenin binding|androgen receptor binding|cadherin binding|estrogen receptor binding|I-SMAD binding|ion channel binding|protein binding|protein C-terminus binding|protein kinase binding|protein phosphatase binding|R-SMAD binding|RPTP-like protein binding|signal transducer activity|specific RNA polymerase II transcription factor activity|structural molecule activity|transcription coactivator activity|transcription regulatory region DNA binding	g.chr3:41266124A>G	X87838	CCDS2694.1	3p21	2013-02-15	2002-08-29		ENSG00000168036	ENSG00000168036		"Armadillo repeat containing"	2514	protein-coding gene	gene with protein product		116806	"catenin (cadherin-associated protein), beta 1 (88kD)"	CTNNB		7829088	Standard	NM_001098210		Approved	beta-catenin, armadillo	uc003ckr.2	P35222	OTTHUMG00000131393	ENST00000349496.5:c.121A>G	3.37:g.41266124A>G	ENSP00000344456:p.Thr41Ala					CTNNB1_ENST00000405570.1_Missense_Mutation_p.T41A|CTNNB1_ENST00000396183.3_Missense_Mutation_p.T41A|CTNNB1_ENST00000453024.1_Missense_Mutation_p.T34A|CTNNB1_ENST00000396185.3_Missense_Mutation_p.T41A	p.T41A	NM_001904.3	NP_001895.1	P35222	CTNB1_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294)	3	401	+			41		T -> A (in hepatoblastoma and hepatocellular carcinoma; also in a desmoid tumor; strongly reduces phosphorylation and degradation; abolishes phosphorylation on Ser-33 and Ser-37 and enhances transactivation of target genes).|T -> I (in PTR, hepatocellular carcinoma and ovarian cancer).			A8K1L7|Q8NEW9|Q8NI94|Q9H391	Missense_Mutation	SNP	ENST00000349496.5	37	c.121A>G	CCDS2694.1	.	.	.	.	.	.	.	.	.	.	A	23.7	4.449381	0.84101	.	.	ENSG00000168036	ENST00000426215;ENST00000405570;ENST00000431914;ENST00000396183;ENST00000349496;ENST00000453024;ENST00000396185;ENST00000450969;ENST00000441708	T;T;T;T;T;T;T;T;T	0.48201	0.82;0.82;0.82;0.82;0.82;0.82;0.82;0.82;0.82	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	T	0.63117	0.2484	M	0.79258	2.445	0.80722	D	1	P	0.50943	0.94	P	0.52267	0.694	T	0.68561	-0.5376	10	0.87932	D	0	-8.9189	16.3453	0.83126	1.0:0.0:0.0:0.0	.	41	P35222	CTNB1_HUMAN	A	34;41;41;41;41;34;41;41;41	ENSP00000400508:T34A;ENSP00000385604:T41A;ENSP00000412219:T41A;ENSP00000379486:T41A;ENSP00000344456:T41A;ENSP00000411226:T34A;ENSP00000379488:T41A;ENSP00000409302:T41A;ENSP00000401599:T41A	ENSP00000344456:T41A	T	+	1	0	CTNNB1	41241128	1.000000	0.71417	0.994000	0.49952	0.993000	0.82548	9.339000	0.96797	2.261000	0.74972	0.533000	0.62120	ACC		0.507	CTNNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254182.2	NM_001098210		4	40	0	0	0	1	0	4	40					G	41266124	A	G	41266124	3	3	212	1	0	0	0	0	1	0	0	0	4016	391	14	4	127	4	CTNNB1	3	41266124	Missense_Mutation	SNP	A	TCGA-HC-7738-01A-11D-2114-08	3218696	41266124	156756306	12	9749											
SLC26A6	65010	broad.mit.edu	37	chr3	48666102	48666102	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcagcattggcaaagtacaCggtggccgaggagcggaaga	12	5	15	9	3	1	1	1	0	0	1	1	4	1	3	1	5	3	3	1	5	3	2			TCGA-HC-7738-01A-11D-2114-08	TCGA-HC-7738-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af73b3d5-51db-4b4d-b56a-196c61830450	573b63e8-ecb6-4c86-932a-fd674800d592	g.chr3:48666102C>T	ENST00000395550.2	-	15	1692	c.1645G>A	c.(1645-1647)Gtg>Atg	p.V549M	SLC26A6_ENST00000358747.6_Missense_Mutation_p.V528M|SLC26A6_ENST00000420764.2_Missense_Mutation_p.V549M|SLC26A6_ENST00000482282.1_5'Flank|SLC26A6_ENST00000455886.2_Missense_Mutation_p.V513M|SLC26A6_ENST00000383733.3_Missense_Mutation_p.V549M|SLC26A6_ENST00000337000.8_Missense_Mutation_p.V442M			Q9BXS9	S26A6_HUMAN	solute carrier family 26 (anion exchanger), member 6	549	STAS. {ECO:0000255|PROSITE- ProRule:PRU00198}.				angiotensin-activated signaling pathway (GO:0038166)|anion transport (GO:0006820)|bicarbonate transport (GO:0015701)|cellular response to cAMP (GO:0071320)|cellular response to fructose stimulus (GO:0071332)|cellular response to interferon-gamma (GO:0071346)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|epithelial fluid transport (GO:0042045)|formate transport (GO:0015724)|intestinal absorption (GO:0050892)|intracellular pH elevation (GO:0051454)|ion transport (GO:0006811)|mannitol transport (GO:0015797)|oxalate transport (GO:0019532)|oxalic acid secretion (GO:0046724)|positive regulation of dipeptide transmembrane transport (GO:2001150)|protein kinase C signaling (GO:0070528)|regulation of intracellular pH (GO:0051453)|sperm capacitation (GO:0048240)|sulfate transmembrane transport (GO:1902358)|sulfate transport (GO:0008272)|transepithelial chloride transport (GO:0030321)|transepithelial transport (GO:0070633)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|chloride channel complex (GO:0034707)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane-bounded vesicle (GO:0031988)|plasma membrane (GO:0005886)|sperm midpiece (GO:0097225)|vesicle membrane (GO:0012506)	anion:anion antiporter activity (GO:0015301)|bicarbonate transmembrane transporter activity (GO:0015106)|chloride channel activity (GO:0005254)|chloride transmembrane transporter activity (GO:0015108)|efflux transmembrane transporter activity (GO:0015562)|formate efflux transmembrane transporter activity (GO:0015660)|formate transmembrane transporter activity (GO:0015499)|formate uptake transmembrane transporter activity (GO:0015659)|oxalate transmembrane transporter activity (GO:0019531)|PDZ domain binding (GO:0030165)|secondary active sulfate transmembrane transporter activity (GO:0008271)|sulfate transmembrane transporter activity (GO:0015116)		SLC26A6/PRKAR2A(2)	NS(1)|breast(1)|cervix(1)|endometrium(3)|large_intestine(1)|lung(11)|ovary(1)	19				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00609)		GCAAAGTACACGGTGGCCGAG	0.612																																					NSCLC(13;369 479 28271 30152 44026)	ENST00000358747.6																		SLC26A6/PRKAR2A(2)	0				NS(1)|breast(1)|cervix(1)|endometrium(3)|large_intestine(1)|lung(11)|ovary(1)	19						c.(1582-1584)Gtg>Atg		solute carrier family 26 (anion exchanger), member 6							102	112	109					3																	48666102		2127	4240	6367	SO:0001583	missense	65010							g.chr3:48666102C>T	AF279265	CCDS43087.1, CCDS46824.1, CCDS46825.1, CCDS46826.1, CCDS63627.1, CCDS63628.1	3p21.31	2013-08-05	2013-07-18		ENSG00000225697	ENSG00000225697		"Solute carriers"	14472	protein-coding gene	gene with protein product	"pendrin-like protein 1", "pendrin L1", "sulfate anion transporter", "anion transporter 1"	610068	"solute carrier family 26, member 6"			11087667, 11247665	Standard	NM_022911		Approved	DKFZp586E1422		Q9BXS9	OTTHUMG00000186381	ENST00000395550.2:c.1645G>A	3.37:g.48666102C>T	ENSP00000378920:p.Val549Met					SLC26A6_ENST00000395550.2_Missense_Mutation_p.V549M|SLC26A6_ENST00000337000.8_Missense_Mutation_p.V442M|SLC26A6_ENST00000455886.2_Missense_Mutation_p.V513M|SLC26A6_ENST00000420764.2_Missense_Mutation_p.V549M|SLC26A6_ENST00000383733.3_Missense_Mutation_p.V549M	p.V528M	NM_001040454.1	NP_001035544.1				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00609)	14	1832	-								B4DMZ1|Q548A7|Q96Q90|Q9NQU1	Missense_Mutation	SNP	ENST00000395550.2	37	c.1582G>A	CCDS43087.1	.	.	.	.	.	.	.	.	.	.	C	11.04	1.520433	0.27211	.	.	ENSG00000225697	ENST00000420764;ENST00000395550;ENST00000383733;ENST00000337000;ENST00000447978;ENST00000358747;ENST00000455886	T;T;T;T;T;T	0.60548	0.18;0.18;0.18;0.18;0.18;0.18	5.02	-10.0	0.00425	Sulphate transporter/antisigma-factor antagonist STAS (4);	.	.	.	.	T	0.30103	0.0754	N	0.24115	0.695	0.09310	N	0.999992	P;B;P;B;B;B;B	0.43412	0.806;0.249;0.769;0.093;0.377;0.377;0.016	B;B;B;B;B;B;B	0.36845	0.234;0.034;0.105;0.064;0.105;0.105;0.015	T	0.35400	-0.9790	9	0.46703	T	0.11	.	4.2743	0.10800	0.145:0.0762:0.2825:0.4963	.	513;562;442;549;549;549;3954	B4DMZ1;Q86YZ4;G3XAC1;Q9BXS9-2;Q548A7;Q9BXS9;Q5Y190	.;.;.;.;.;S26A6_HUMAN;.	M	549;549;549;442;562;528;513	ENSP00000404684:V549M;ENSP00000378920:V549M;ENSP00000373239:V549M;ENSP00000337648:V442M;ENSP00000351597:V528M;ENSP00000401066:V513M	ENSP00000337648:V442M	V	-	1	0	SLC26A6	48641106	0.000000	0.05858	0.040000	0.18447	0.713000	0.41058	-3.585000	0.00423	-2.440000	0.00550	0.561000	0.74099	GTG		0.612	SLC26A6-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000345040.1	NM_022911		3	68	0	0	0	1	0	3	68					T	48666102	C	T	48666102	3	4	212	1	0	0	0	0	1	0	0	0	14521	536	19	1	698	1	SLC26A6	3	48666102	Missense_Mutation	SNP	C	TCGA-HC-7738-01A-11D-2114-08	7399978	48666102	149356328	13	9750											
LMOD3	56203	broad.mit.edu	37	chr3	69168012	69168012	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ggttctctggcttccggcatCcgagatttgcgctggattct	4	14	12	11	3	2	1	0	0	2	1	5	3	4	2	2	4	1	4	2	4	0	4			TCGA-HC-7738-01A-11D-2114-08	TCGA-HC-7738-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af73b3d5-51db-4b4d-b56a-196c61830450	ef449499-0238-4585-afc7-fd792d26fe32	g.chr3:69168012C>A	ENST00000420581.2	-	2	1673	c.1494G>T	c.(1492-1494)cgG>cgT	p.R498R	LMOD3_ENST00000475434.1_Silent_p.R498R|LMOD3_ENST00000489031.1_Silent_p.R498R	NM_198271.3	NP_938012.2	Q0VAK6	LMOD3_HUMAN	leiomodin 3 (fetal)	498						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(1)	13		Lung NSC(201;0.0193)|Prostate(884;0.174)		BRCA - Breast invasive adenocarcinoma(55;7.88e-05)|Epithelial(33;0.000839)|LUSC - Lung squamous cell carcinoma(21;0.0119)|Lung(16;0.0191)|KIRC - Kidney renal clear cell carcinoma(39;0.205)|Kidney(39;0.24)		CTTCCGGCATCCGAGATTTGC	0.537																																						ENST00000420581.2																			0				breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(1)	13						c.(1492-1494)cgG>cgT		leiomodin 3 (fetal)							88	90	90					3																	69168012		2009	4182	6191	SO:0001819	synonymous_variant	56203					cytoplasm|cytoskeleton	tropomyosin binding	g.chr3:69168012C>A	AK096900	CCDS46862.1	3p14.1	2003-03-07			ENSG00000163380	ENSG00000163380			6649	protein-coding gene	gene with protein product							Standard	NM_198271		Approved		uc003dns.2	Q0VAK6	OTTHUMG00000158774	ENST00000420581.2:c.1494G>T	3.37:g.69168012C>A						LMOD3_ENST00000489031.1_Silent_p.R498R|LMOD3_ENST00000475434.1_Silent_p.R498R	p.R498R	NM_198271.3	NP_938012.2	Q0VAK6	LMOD3_HUMAN		BRCA - Breast invasive adenocarcinoma(55;7.88e-05)|Epithelial(33;0.000839)|LUSC - Lung squamous cell carcinoma(21;0.0119)|Lung(16;0.0191)|KIRC - Kidney renal clear cell carcinoma(39;0.205)|Kidney(39;0.24)	2	1673	-		Lung NSC(201;0.0193)|Prostate(884;0.174)	498					B4DT85|Q0JTT2|Q5JPG6|Q8IUK4|Q96LS4	Silent	SNP	ENST00000420581.2	37	c.1494G>T	CCDS46862.1																																																																																				0.537	LMOD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352138.1	XM_067529		4	30	1	0	0.00909568	1	0.00972297	4	30					A	69168012	C	A	69168012	2	1	212	1	0	0	0	0	0	0	0	1	8858	842	30	5		5	LMOD3	3	69168012	Silent	SNP	C	TCGA-HC-7738-01A-11D-2114-08	20501910	69168012	128854418	14	9751											
HGD	3081	broad.mit.edu	37	chr3	120365112	120365112	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gaggcttgtaatgaagatttAccaattggtccaaggtcagg	12	11	12	6	0	1	2	1	1	0	1	2	3	2	2	2	4	1	2	2	4	5	5			TCGA-HC-7738-01A-11D-2114-08	TCGA-HC-7738-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af73b3d5-51db-4b4d-b56a-196c61830450	573b63e8-ecb6-4c86-932a-fd674800d592	g.chr3:120365112A>G	ENST00000283871.5	-	9	1109		c.e9+1			NM_000187.3	NP_000178.2	Q93099	HGD_HUMAN	homogentisate 1,2-dioxygenase						cellular nitrogen compound metabolic process (GO:0034641)|L-phenylalanine catabolic process (GO:0006559)|small molecule metabolic process (GO:0044281)|tyrosine catabolic process (GO:0006572)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	homogentisate 1,2-dioxygenase activity (GO:0004411)|metal ion binding (GO:0046872)			cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(2)	25				GBM - Glioblastoma multiforme(114;0.158)		ATGAAGATTTACCAATTGGTC	0.453																																						ENST00000283871.5																			0				cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(2)	25						c.e9+1		homogentisate 1,2-dioxygenase							91	86	88					3																	120365112		2203	4300	6503	SO:0001630	splice_region_variant	3081				L-phenylalanine catabolic process|tyrosine catabolic process	cytosol	homogentisate 1,2-dioxygenase activity|metal ion binding	g.chr3:120365112A>G		CCDS3000.1	3q	2010-04-27	2010-04-27		ENSG00000113924	ENSG00000113924	1.13.11.5		4892	protein-coding gene	gene with protein product	"homogentisate oxidase"	607474	"homogentisate 1,2-dioxygenase (homogentisate oxidase)"	AKU		8188241	Standard	NM_000187		Approved	HGO	uc003edw.3	Q93099	OTTHUMG00000159441	ENST00000283871.5:c.649+1T>C	3.37:g.120365112A>G								NM_000187.3	NP_000178.2	Q93099	HGD_HUMAN		GBM - Glioblastoma multiforme(114;0.158)	9	1109	-								A8K417|B2R8Z0	Splice_Site	SNP	ENST00000283871.5	37		CCDS3000.1	.	.	.	.	.	.	.	.	.	.	A	20.7	4.033866	0.75504	.	.	ENSG00000113924	ENST00000283871;ENST00000475447;ENST00000494453	.	.	.	5.73	5.73	0.89815	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.9693	0.64230	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	HGD	121847802	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	8.353000	0.90077	2.181000	0.69327	0.533000	0.62120	.		0.453	HGD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355410.1		Intron	23	48	0	0	0	1	0	23	48					G	120365112	A	G	120365112	5	3	212	1	0	0	0	0	0	0	1	0	7084	405	14	4	710	4	HGD	3	120365112	Splice_Site	SNP	A	TCGA-HC-7738-01A-11D-2114-08	51197100	120365112	77657318	15	9752											
TMCC1	23023	broad.mit.edu	37	chr3	129389968	129389968	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtgagcttcaggatcttcTgctgcaggtgagcaatggca	8	11	13	9	0	3	2	1	2	2	0	3	3	3	3	0	3	4	5	0	3	1	2			TCGA-HC-7738-01A-11D-2114-08	TCGA-HC-7738-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af73b3d5-51db-4b4d-b56a-196c61830450	573b63e8-ecb6-4c86-932a-fd674800d592	g.chr3:129389968T>C	ENST00000393238.3	-	4	1056	c.716A>G	c.(715-717)cAg>cGg	p.Q239R	TMCC1_ENST00000432054.2_5'UTR|TMCC1_ENST00000329333.5_Missense_Mutation_p.Q60R|TMCC1_ENST00000426664.2_Missense_Mutation_p.Q125R	NM_001017395.3	NP_001017395.2	O94876	TMCC1_HUMAN	transmembrane and coiled-coil domain family 1	239						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)			PLXND1/TMCC1(4)	breast(1)|endometrium(3)|large_intestine(8)|lung(12)|skin(1)	25						CAGGATCTTCTGCTGCAGGTG	0.527																																						ENST00000393238.3																		PLXND1/TMCC1(4)	0				breast(1)|endometrium(3)|large_intestine(8)|lung(12)|skin(1)	25						c.(715-717)cAg>cGg		transmembrane and coiled-coil domain family 1							193	190	191					3																	129389968		2203	4300	6503	SO:0001583	missense	23023					integral to membrane		g.chr3:129389968T>C	AB018322	CCDS33855.1	3q21.3	2010-04-19	2005-07-13		ENSG00000172765	ENSG00000172765		"Transmembrane and coiled-coil domain containing"	29116	protein-coding gene	gene with protein product			"transmembrane and coiled-coil domains 1"			9872452	Standard	NR_033361		Approved	KIAA0779	uc021xdy.1	O94876	OTTHUMG00000159579	ENST00000393238.3:c.716A>G	3.37:g.129389968T>C	ENSP00000376930:p.Gln239Arg					TMCC1_ENST00000329333.5_Missense_Mutation_p.Q60R|TMCC1_ENST00000426664.2_Missense_Mutation_p.Q125R|TMCC1_ENST00000432054.2_5'UTR	p.Q239R	NM_001017395.3	NP_001017395.2	O94876	TMCC1_HUMAN			4	1056	-			239					A8K5Y3|B4DE04|Q68E06|Q8IXM8	Missense_Mutation	SNP	ENST00000393238.3	37	c.716A>G	CCDS33855.1	.	.	.	.	.	.	.	.	.	.	T	24.3	4.512518	0.85389	.	.	ENSG00000172765	ENST00000393238;ENST00000426664;ENST00000329333	T;T;T	0.50277	0.75;0.75;0.75	5.56	5.56	0.83823	.	0.000000	0.85682	D	0.000000	T	0.71281	0.3321	M	0.83603	2.65	0.80722	D	1	D;D	0.67145	0.996;0.985	D;D	0.85130	0.997;0.982	T	0.74318	-0.3704	10	0.49607	T	0.09	-29.0987	15.999	0.80275	0.0:0.0:0.0:1.0	.	60;239	B4DE04;O94876	.;TMCC1_HUMAN	R	239;125;60	ENSP00000376930:Q239R;ENSP00000389892:Q125R;ENSP00000327349:Q60R	ENSP00000327349:Q60R	Q	-	2	0	TMCC1	130872658	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.965000	0.87945	2.241000	0.73720	0.482000	0.46254	CAG		0.527	TMCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356418.2	NM_015008		31	178	0	0	0	1	0	31	178					C	129389968	T	C	129389968	3	2	212	1	0	0	0	0	1	0	0	0	15989	1580	55	4	1257	4	TMCC1	3	129389968	Missense_Mutation	SNP	T	TCGA-HC-7738-01A-11D-2114-08	9024856	129389968	68632462	16	9753											
MED12L	116931	broad.mit.edu	37	chr3	151067883	151067883	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atgaatgtaaccagcgcacaAtccttctctatggagtcggc	11	10	9	11	2	1	1	0	1	1	0	4	2	2	2	2	2	2	2	2	2	4	3			TCGA-HC-7738-01A-11D-2114-08	TCGA-HC-7738-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af73b3d5-51db-4b4d-b56a-196c61830450	573b63e8-ecb6-4c86-932a-fd674800d592	g.chr3:151067883A>G	ENST00000474524.1	+	15	2220	c.2182A>G	c.(2182-2184)Atc>Gtc	p.I728V	MED12L_ENST00000273432.4_Missense_Mutation_p.I588V|MED12L_ENST00000491549.1_3'UTR|P2RY12_ENST00000302632.3_Intron	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	728						mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)			NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			CCAGCGCACAATCCTTCTCTA	0.423																																						ENST00000474524.1																			0				NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128						c.(2182-2184)Atc>Gtc		mediator complex subunit 12-like							227	233	231					3																	151067883		2203	4300	6503	SO:0001583	missense	116931				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex		g.chr3:151067883A>G	AB046855, AF388364	CCDS33876.1	3q25.1	2007-07-30	2007-07-30		ENSG00000144893	ENSG00000144893			16050	protein-coding gene	gene with protein product		611318	"mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)-like"			11524702	Standard	XM_006713487		Approved	KIAA1635, TNRC11L, TRALPUSH, TRALP	uc003eyp.3	Q86YW9	OTTHUMG00000159844	ENST00000474524.1:c.2182A>G	3.37:g.151067883A>G	ENSP00000417235:p.Ile728Val					MED12L_ENST00000491549.1_3'UTR|P2RY12_ENST00000302632.3_Intron|MED12L_ENST00000273432.4_Missense_Mutation_p.I588V	p.I728V	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)		15	2220	+			728					Q96PC7|Q96PC8|Q9H9M5|Q9HCD7|Q9UI69	Missense_Mutation	SNP	ENST00000474524.1	37	c.2182A>G	CCDS33876.1	.	.	.	.	.	.	.	.	.	.	A	3.397	-0.123005	0.06795	.	.	ENSG00000144893	ENST00000474524;ENST00000273432	T;T	0.30981	1.51;1.51	5.81	3.45	0.39498	Mediator complex, subunit Med12, LCEWAV-domain (1);	0.121286	0.56097	N	0.000022	T	0.11452	0.0279	N	0.03930	-0.32	0.80722	D	1	B;B	0.09022	0.002;0.001	B;B	0.15484	0.013;0.005	T	0.11717	-1.0576	10	0.08837	T	0.75	-13.2209	8.2534	0.31739	0.7823:0.0:0.2177:0.0	.	588;728	F8WAE6;Q86YW9	.;MD12L_HUMAN	V	728;588	ENSP00000417235:I728V;ENSP00000273432:I588V	ENSP00000273432:I588V	I	+	1	0	MED12L	152550573	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.901000	0.56303	0.475000	0.27415	0.455000	0.32223	ATC		0.423	MED12L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357707.2	NM_053002		88	205	0	0	0	1	0	88	205					G	151067883	A	G	151067883	3	3	212	1	0	0	0	0	1	0	0	0	9429	101	4	4	2240	4	MED12L	3	151067883	Missense_Mutation	SNP	A	TCGA-HC-7738-01A-11D-2114-08	21677915	151067883	46954547	17	9754											
YEATS2	55689	broad.mit.edu	37	chr3	183479310	183479310	+	Frame_Shift_Del	DEL	T	T	-																															cacagcaggaggattctttgTttgcatctatgccacctctt																										TCGA-HC-7738-01A-11D-2114-08	TCGA-HC-7738-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af73b3d5-51db-4b4d-b56a-196c61830450	573b63e8-ecb6-4c86-932a-fd674800d592	g.chr3:183479310delT	ENST00000305135.5	+	14	1867	c.1672delT	c.(1672-1674)tttfs	p.F558fs		NM_018023.4	NP_060493.3	Q9ULM3	YETS2_HUMAN	YEATS domain containing 2	558					chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|mitotic spindle (GO:0072686)	TBP-class protein binding (GO:0017025)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(24)|ovary(3)|prostate(2)|skin(3)	49	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		all cancers(12;2.38e-42)|Epithelial(37;1.9e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			GGATTCTTTGTTTGCATCTAT	0.388																																						ENST00000305135.5																			0				NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(24)|ovary(3)|prostate(2)|skin(3)	49						c.(1672-1674)ttfs		YEATS domain containing 2							154	148	150					3																	183479310		1867	4083	5950	SO:0001589	frameshift_variant	55689				histone H3 acetylation|negative regulation of transcription from RNA polymerase II promoter	Ada2/Gcn5/Ada3 transcription activator complex	TBP-class protein binding	g.chr3:183479310delT	AB033023	CCDS43175.1	3q27.3	2004-08-18			ENSG00000163872	ENSG00000163872			25489	protein-coding gene	gene with protein product		613373				10574462	Standard	NM_018023		Approved	FLJ10201, FLJ12841, FLJ13308, KIAA1197	uc003fly.2	Q9ULM3	OTTHUMG00000156898	ENST00000305135.5:c.1672delT	3.37:g.183479310delT	ENSP00000306983:p.Phe558fs						p.F558fs	NM_018023.4	NP_060493.3	Q9ULM3	YETS2_HUMAN	all cancers(12;2.38e-42)|Epithelial(37;1.9e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)		14	1867	+	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		558					A7E2B9|D3DNS9|Q641P6|Q9NW96	Frame_Shift_Del	DEL	ENST00000305135.5	37	c.1672delT	CCDS43175.1																																																																																				0.388	YEATS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346507.2	NM_018023		8	206						8	206	---	---	---	---	-	183479310	T	-	183479310	7	5	212	1	0	1	0	1	0	0	0	0	17469	1725	60	0	1722	0	YEATS2	3	183479310	Frame_Shift_Del	DEL	T	TCGA-HC-7738-01A-11D-2114-08	32411427	183479310	14543120	18	9755											
LNX1	84708	broad.mit.edu	37	chr4	54440053	54440053	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgcaggcagatgtggcagatGaggtcatcatccacttcctc	9	10	11	11	0	2	3	2	1	0	2	5	3	4	3	2	3	1	3	2	3	0	1			TCGA-HC-7738-01A-11D-2114-08	TCGA-HC-7738-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af73b3d5-51db-4b4d-b56a-196c61830450	573b63e8-ecb6-4c86-932a-fd674800d592	g.chr4:54440053G>A	ENST00000263925.7	-	2	431	c.117C>T	c.(115-117)ctC>ctT	p.L39L	FIP1L1_ENST00000507166.1_Intron|LNX1_ENST00000504605.1_5'Flank	NM_001126328.2	NP_001119800.1	Q8TBB1	LNX1_HUMAN	ligand of numb-protein X 1, E3 ubiquitin protein ligase	39					protein homooligomerization (GO:0051260)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|endometrium(3)|large_intestine(11)|lung(6)|ovary(3)|urinary_tract(4)	32	all_neural(26;0.153)		GBM - Glioblastoma multiforme(3;8.2e-46)|LUSC - Lung squamous cell carcinoma(32;0.0134)			TGTGGCAGATGAGGTCATCAT	0.572																																						ENST00000263925.7																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|endometrium(3)|large_intestine(11)|lung(6)|ovary(3)|urinary_tract(4)	32						c.(115-117)ctC>ctT		ligand of numb-protein X 1, E3 ubiquitin protein ligase							42	39	40					4																	54440053		1568	3582	5150	SO:0001819	synonymous_variant	84708					cytoplasm	zinc ion binding	g.chr4:54440053G>A	AF237782	CCDS3492.1, CCDS47057.1	4q12	2013-01-09	2012-02-23	2005-11-04	ENSG00000072201	ENSG00000072201		"RING-type (C3HC4) zinc fingers"	6657	protein-coding gene	gene with protein product		609732	"ligand of numb-protein X", "ligand of numb-protein X 1"	LNX		11521506, 11782429	Standard	NM_032622		Approved	MPDZ, PDZRN2	uc003hag.5	Q8TBB1	OTTHUMG00000102099	ENST00000263925.7:c.117C>T	4.37:g.54440053G>A						FIP1L1_ENST00000507166.1_Intron	p.L39L	NM_001126328.2	NP_001119800.1	Q8TBB1	LNX1_HUMAN	GBM - Glioblastoma multiforme(3;8.2e-46)|LUSC - Lung squamous cell carcinoma(32;0.0134)		2	431	-	all_neural(26;0.153)		39					Q4W5K7|Q8N4C2|Q96MJ7|Q9BY20	Silent	SNP	ENST00000263925.7	37	c.117C>T	CCDS47057.1																																																																																				0.572	LNX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219934.2			17	35	0	0	0	1	0	17	35					A	54440053	G	A	54440053	2	1	212	1	0	0	0	0	0	0	0	1	8865	1277	45	3		3	LNX1	4	54440053	Silent	SNP	G	TCGA-HC-7738-01A-11D-2114-08		54440053	136714223	19	9756											
ARHGAP24	83478	broad.mit.edu	37	chr4	86916229	86916229	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tctggtaccaaaatgggcacGcacagtgtacagaatggaac	14	7	11	9	1	1	1	0	0	1	1	1	2	1	2	1	3	3	4	1	3	6	2			TCGA-HC-7738-01A-11D-2114-08	TCGA-HC-7738-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af73b3d5-51db-4b4d-b56a-196c61830450	573b63e8-ecb6-4c86-932a-fd674800d592	g.chr4:86916229G>A	ENST00000395184.1	+	9	1888	c.1422G>A	c.(1420-1422)acG>acA	p.T474T	ARHGAP24_ENST00000264343.4_Silent_p.T381T|ARHGAP24_ENST00000395183.2_Silent_p.T379T	NM_001025616.2	NP_001020787.2	Q8N264	RHG24_HUMAN	Rho GTPase activating protein 24	474					activation of Rac GTPase activity (GO:0032863)|angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of ruffle assembly (GO:1900028)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|wound healing, spreading of epidermal cells (GO:0035313)	cell projection (GO:0042995)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)	Rac GTPase activator activity (GO:0030675)	p.T474T(1)|p.T381T(1)		breast(3)|cervix(1)|endometrium(3)|large_intestine(4)|lung(10)|skin(1)|stomach(1)|urinary_tract(1)	24		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.000571)		AAATGGGCACGCACAGTGTAC	0.517																																						ENST00000395184.1																			2	Substitution - coding silent(2)	p.T474T(1)|p.T381T(1)	cervix(2)	breast(3)|cervix(1)|endometrium(3)|large_intestine(4)|lung(10)|skin(1)|stomach(1)|urinary_tract(1)	24						c.(1420-1422)acG>acA		Rho GTPase activating protein 24							84	84	84					4																	86916229		2203	4300	6503	SO:0001819	synonymous_variant	83478				angiogenesis|cell differentiation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell projection|cytoskeleton|cytosol|focal adhesion	GTPase activator activity|protein binding	g.chr4:86916229G>A	AK091196	CCDS3611.1, CCDS34025.1, CCDS43246.1	4q22.1	2013-01-10			ENSG00000138639	ENSG00000138639		"Rho GTPase activating proteins", "Pleckstrin homology (PH) domain containing"	25361	protein-coding gene	gene with protein product		610586				11230166, 15254788	Standard	NM_001042669		Approved	DKFZP564B1162, FLJ33877, FilGAP	uc003hpk.3	Q8N264	OTTHUMG00000130427	ENST00000395184.1:c.1422G>A	4.37:g.86916229G>A						ARHGAP24_ENST00000395183.2_Silent_p.T379T|ARHGAP24_ENST00000264343.4_Silent_p.T381T	p.T474T	NM_001025616.2	NP_001020787.2	Q8N264	RHG24_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000571)	9	1888	+		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)	474					Q4KMG1|Q6ZNV3|Q86TI5|Q86WE4|Q9H0T6	Silent	SNP	ENST00000395184.1	37	c.1422G>A	CCDS34025.1																																																																																				0.517	ARHGAP24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252815.2	NM_031305		4	105	0	0	0	1	0	4	105					A	86916229	G	A	86916229	2	1	212	1	0	0	0	0	0	0	0	1	873	1074	38	1		1	ARHGAP24	4	86916229	Silent	SNP	G	TCGA-HC-7738-01A-11D-2114-08	32476176	86916229	104238047	20	9757											
ELOVL6	79071	broad.mit.edu	37	chr4	110972797	110972797	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ccatagttcatagtcatgaaCcaacctcccccggcaaccat	12	8	5	16	1	2	1	2	1	0	0	3	1	3	1	6	1	3	2	6	1	5	3			TCGA-HC-7738-01A-11D-2114-08	TCGA-HC-7738-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af73b3d5-51db-4b4d-b56a-196c61830450	573b63e8-ecb6-4c86-932a-fd674800d592	g.chr4:110972797C>T	ENST00000394607.3	-	5	658	c.495G>A	c.(493-495)tgG>tgA	p.W165*	ELOVL6_ENST00000302274.3_Nonsense_Mutation_p.W165*			Q9H5J4	ELOV6_HUMAN	ELOVL fatty acid elongase 6	165					cellular lipid metabolic process (GO:0044255)|fatty acid elongation, saturated fatty acid (GO:0019367)|long-chain fatty acid biosynthetic process (GO:0042759)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)	transferase activity, transferring acyl groups other than amino-acyl groups (GO:0016747)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)	8				OV - Ovarian serous cystadenocarcinoma(123;0.00462)		TAGTCATGAACCAACCTCCCC	0.522																																						ENST00000394607.3																			0				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)	8						c.(493-495)tgG>tgA		ELOVL fatty acid elongase 6							68	60	63					4																	110972797		2203	4300	6503	SO:0001587	stop_gained	79071				fatty acid elongation, saturated fatty acid|long-chain fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process		fatty acid elongase activity|protein binding	g.chr4:110972797C>T	AK027031	CCDS3690.1	4q25	2011-05-25	2011-05-25		ENSG00000170522	ENSG00000170522			15829	protein-coding gene	gene with protein product		611546	"ELOVL family member 6, elongation of long chain fatty acids (FEN1/Elo2, SUR4/Elo3-like, yeast)"			11567032	Standard	NM_024090		Approved	FLJ23378, MGC5487, LCE	uc003hzz.3	Q9H5J4	OTTHUMG00000132547	ENST00000394607.3:c.495G>A	4.37:g.110972797C>T	ENSP00000378105:p.Trp165*					ELOVL6_ENST00000302274.3_Nonsense_Mutation_p.W165*	p.W165*			Q9H5J4	ELOV6_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.00462)	5	658	-			165					Q4W5L0|Q8NCD1	Nonsense_Mutation	SNP	ENST00000394607.3	37	c.495G>A	CCDS3690.1	.	.	.	.	.	.	.	.	.	.	C	34	5.396878	0.96009	.	.	ENSG00000170522	ENST00000394607;ENST00000302274	.	.	.	5.97	5.12	0.69794	.	0.205916	0.53938	D	0.000044	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-16.053	16.5667	0.84600	0.1316:0.8684:0.0:0.0	.	.	.	.	X	165	.	ENSP00000304736:W165X	W	-	3	0	ELOVL6	111192246	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	7.770000	0.85390	1.497000	0.48584	0.655000	0.94253	TGG		0.522	ELOVL6-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255748.1	NM_024090		18	54	0	0	0	1	0	18	54					T	110972797	C	T	110972797	4	4	212	1	0	0	0	0	0	1	0	0	5078	508	18	3	306	3	ELOVL6	4	110972797	Nonsense_Mutation	SNP	C	TCGA-HC-7738-01A-11D-2114-08	24056568	110972797	80181479	21	9758											
OTUD4	54726	broad.mit.edu	37	chr4	146077123	146077125	+	In_Frame_Del	DEL	CAG	CAG	-																															aggtttaaatccattcacatCagcagcagcagcagcagtct																								rs150581210		TCGA-HC-7738-01A-11D-2114-08	TCGA-HC-7738-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af73b3d5-51db-4b4d-b56a-196c61830450	573b63e8-ecb6-4c86-932a-fd674800d592	g.chr4:146077123_146077125delCAG	ENST00000447906.2	-	8	840_842	c.653_655delCTG	c.(652-657)gctgat>gat	p.A218del	OTUD4_ENST00000454497.2_In_Frame_Del_p.A153del|OTUD4_ENST00000455611.2_5'UTR			Q01804	OTUD4_HUMAN	OTU deubiquitinase 4	218					protein K48-linked deubiquitination (GO:0071108)		poly(A) RNA binding (GO:0044822)|ubiquitin-specific protease activity (GO:0004843)			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33	all_hematologic(180;0.151)					CCATTCACATCAGCAGCAGCAGC	0.34																																						ENST00000454497.2																			0				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33						c.(457-462)gat>g		OTU domain containing 4																																				SO:0001651	inframe_deletion	54726						protein binding	g.chr4:146077123_146077125delCAG		CCDS3764.1, CCDS47139.1	4q31.21	2014-02-24	2014-02-24		ENSG00000164164	ENSG00000164164		"OTU domain containing"	24949	protein-coding gene	gene with protein product		611744	"OTU domain containing 4"			1475186, 12727813, 19996094	Standard	NM_001102653		Approved	HSHIN1, KIAA1046, DUBA6	uc003ika.4	Q01804	OTTHUMG00000161480	ENST00000447906.2:c.653_655delCTG	4.37:g.146077132_146077134delCAG	ENSP00000395487:p.Ala218del					OTUD4_ENST00000447906.2_In_Frame_Del_p.AD218del|OTUD4_ENST00000455611.2_5'UTR	p.AD153del	NM_001102653.1	NP_001096123.1	Q01804	OTUD4_HUMAN			8	595_597	-	all_hematologic(180;0.151)		218			OTU.		B4DYS4|Q147U2|Q1ZYK1|Q6PG39|Q96MQ5|Q9NT94|Q9UPV6	In_Frame_Del	DEL	ENST00000447906.2	37	c.458_460delCTG																																																																																					0.34	OTUD4-004	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000365117.2	NM_017493		9	106						9	106	---	---	---	---	-	146077125	CAG	-	146077123	7	5	212	1	0	1	0	1	0	0	0	0	11314	826	29	0	2745	0	OTUD4	4	146077123	In_Frame_Del	DEL	CAG	TCGA-HC-7738-01A-11D-2114-08	35104326	146077123	45077153	22	9759											
DNAJC21	134218	broad.mit.edu	37	chr5	34954743	34954743	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tctaaaggccacaggtcatgCaagagcaccttcatcatcgt	12	9	8	12	1	4	1	3	0	1	1	5	1	4	1	2	2	2	2	2	2	3	2			TCGA-HC-7738-01A-11D-2114-08	TCGA-HC-7738-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af73b3d5-51db-4b4d-b56a-196c61830450	573b63e8-ecb6-4c86-932a-fd674800d592	g.chr5:34954743C>G	ENST00000342382.4	+	12	1747	c.1520C>G	c.(1519-1521)gCa>gGa	p.A507G	DNAJC21_ENST00000303525.7_Missense_Mutation_p.A520G|DNAJC21_ENST00000382021.2_Missense_Mutation_p.A552G			Q5F1R6	DJC21_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 21	507					protein folding (GO:0006457)	ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|skin(2)|upper_aerodigestive_tract(1)	21	all_lung(31;7.08e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)			ACAGGTCATGCAAGAGCACCT	0.408																																						ENST00000382021.2																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|skin(2)|upper_aerodigestive_tract(1)	21						c.(1654-1656)gCa>gGa		DnaJ (Hsp40) homolog, subfamily C, member 21							113	107	109					5																	34954743		2203	4300	6503	SO:0001583	missense	134218				protein folding	ribosome	heat shock protein binding|nucleic acid binding|unfolded protein binding|zinc ion binding	g.chr5:34954743C>G		CCDS3907.2, CCDS34144.1	5p13-p12	2012-10-05			ENSG00000168724	ENSG00000168724		"Heat shock proteins / DNAJ (HSP40)"	27030	protein-coding gene	gene with protein product	"JJJ1 DnaJ domain protein homolog (S. cerevisiae)"					15067379	Standard	XM_005248250		Approved	GS3, DNAJA5, JJJ1	uc003jjc.3	Q5F1R6	OTTHUMG00000074103	ENST00000342382.4:c.1520C>G	5.37:g.34954743C>G	ENSP00000343728:p.Ala507Gly					DNAJC21_ENST00000342382.4_Missense_Mutation_p.A507G|DNAJC21_ENST00000303525.7_Missense_Mutation_p.A520G	p.A552G	NM_194283.3	NP_919259.3	Q5F1R6	DJC21_HUMAN	COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)		13	1882	+	all_lung(31;7.08e-05)		507					Q3B7J9|Q6P086|Q6ZS43|Q86VC6	Missense_Mutation	SNP	ENST00000342382.4	37	c.1655C>G	CCDS34144.1	.	.	.	.	.	.	.	.	.	.	C	24.4	4.522194	0.85600	.	.	ENSG00000168724	ENST00000342382;ENST00000382021;ENST00000303525	T;T;T	0.43688	0.94;0.94;0.94	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	T	0.66036	0.2749	M	0.66378	2.025	0.80722	D	1	P;D	0.71674	0.64;0.998	B;D	0.80764	0.339;0.994	T	0.63950	-0.6521	10	0.59425	D	0.04	-25.2092	20.6439	0.99570	0.0:1.0:0.0:0.0	.	507;552	Q5F1R6;Q5F1R6-2	DJC21_HUMAN;.	G	507;552;520	ENSP00000343728:A507G;ENSP00000371451:A552G;ENSP00000306289:A520G	ENSP00000306289:A520G	A	+	2	0	DNAJC21	34990500	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	6.557000	0.73937	2.890000	0.99128	0.650000	0.86243	GCA		0.408	DNAJC21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157337.1	NM_194283		12	75	0	0	0	1	0	12	75					G	34954743	C	G	34954743	3	3	212	1	0	0	0	0	1	0	0	0	4640	710	25	5	1705	5	DNAJC21	5	34954743	Missense_Mutation	SNP	C	TCGA-HC-7738-01A-11D-2114-08		34954743	145960517	23	9760											
IL7R	3575	broad.mit.edu	37	chr5	35876450	35876450	+	Silent	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cttgggactacaaacagcacGctgccccctccattttctct	8	11	6	16	1	1	0	0	0	1	0	3	1	2	1	3	1	4	2	3	1	2	4			TCGA-HC-7738-01A-11D-2114-08	TCGA-HC-7738-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af73b3d5-51db-4b4d-b56a-196c61830450	573b63e8-ecb6-4c86-932a-fd674800d592	g.chr5:35876450G>C	ENST00000303115.3	+	8	1371	c.1242G>C	c.(1240-1242)acG>acC	p.T414T	IL7R_ENST00000343305.4_3'UTR	NM_002185.3	NP_002176.2	P16871	IL7RA_HUMAN	interleukin 7 receptor	414			T -> M (in dbSNP:rs2229232).		B cell proliferation (GO:0042100)|cell growth (GO:0016049)|cell morphogenesis (GO:0000902)|cell surface receptor signaling pathway (GO:0007166)|homeostasis of number of cells (GO:0048872)|immune response (GO:0006955)|immunoglobulin production (GO:0002377)|interleukin-7-mediated signaling pathway (GO:0038111)|lymph node development (GO:0048535)|negative regulation of T cell mediated cytotoxicity (GO:0001915)|positive regulation of gene expression (GO:0010628)|positive regulation of T cell differentiation in thymus (GO:0033089)|regulation of cell size (GO:0008361)|regulation of DNA recombination (GO:0000018)|signal transduction (GO:0007165)|T cell differentiation (GO:0030217)	external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)|interleukin-7 receptor activity (GO:0004917)			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(78)|kidney(2)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|skin(5)|stomach(3)	126	all_lung(31;0.00015)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.187)|Colorectal(62;0.202)			CAAACAGCACGCTGCCCCCTC	0.522			"Mis, O"		"ALL, ETP ALL"		Severe combined immune deficiency																															ENST00000303115.3				Dom	yes		5	5p13	146661	"Mis, O"	interleukin 7 receptor	yes	Severe combined immune deficiency	L			"ALL, ETP ALL"		0				NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(78)|kidney(2)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|skin(5)|stomach(3)	126						c.(1240-1242)acG>acC		interleukin 7 receptor							92	80	84					5																	35876450		2203	4300	6503	SO:0001819	synonymous_variant	3575				immune response|regulation of DNA recombination	extracellular region|integral to membrane	antigen binding|interleukin-7 receptor activity	g.chr5:35876450G>C	M29696	CCDS3911.1	5p13	2014-09-17			ENSG00000168685	ENSG00000168685		"Interleukins and interleukin receptors", "CD molecules", "Fibronectin type III domain containing"	6024	protein-coding gene	gene with protein product		146661				2317865	Standard	NM_002185		Approved	CD127	uc003jjs.4	P16871	OTTHUMG00000090791	ENST00000303115.3:c.1242G>C	5.37:g.35876450G>C						IL7R_ENST00000343305.4_3'UTR	p.T414T	NM_002185.3	NP_002176.2	P16871	IL7RA_HUMAN	Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.187)|Colorectal(62;0.202)		8	1371	+	all_lung(31;0.00015)		414		T -> M (in dbSNP:rs2229232).			B2RCS6|B4DVT1|Q05CU8|Q6NSP4|Q6NWM0|Q6NWM1|Q6NWM2|Q6NWM3|Q6SV45|Q9UPC1	Silent	SNP	ENST00000303115.3	37	c.1242G>C	CCDS3911.1																																																																																				0.522	IL7R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207577.2			3	69	0	0	0	1	0	3	69					C	35876450	G	C	35876450	2	2	212	1	0	0	0	0	0	0	0	1	7705	1074	38	5		5	IL7R	5	35876450	Silent	SNP	G	TCGA-HC-7738-01A-11D-2114-08	921707	35876450	145038810	24	9761											
HCN1	348980	broad.mit.edu	37	chr5	45645595	45645595	+	Missense_Mutation	SNP	C	C	A																															taggaaaactgtatctgatgCcacattgaaaataatccatg																										TCGA-HC-7738-01A-11D-2114-08	TCGA-HC-7738-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af73b3d5-51db-4b4d-b56a-196c61830450	573b63e8-ecb6-4c86-932a-fd674800d592	g.chr5:45645595C>A	ENST00000303230.4	-	2	598	c.541G>T	c.(541-543)Gca>Tca	p.A181S		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	181					apical protein localization (GO:0045176)|cellular response to cAMP (GO:0071320)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|retinal cone cell development (GO:0046549)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|intracellular cAMP activated cation channel activity (GO:0005222)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated sodium channel activity (GO:0005248)			NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						GTATCTGATGCCACATTGAAA	0.373																																						ENST00000303230.4																			0				NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						c.(541-543)Gca>Tca		hyperpolarization activated cyclic nucleotide-gated potassium channel 1							88	87	87					5																	45645595		2203	4300	6503	SO:0001583	missense	348980					integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity	g.chr5:45645595C>A	AF064876	CCDS3952.1	5p12	2011-07-05			ENSG00000164588	ENSG00000164588		"Voltage-gated ion channels / Cyclic nucleotide-regulated channels"	4845	protein-coding gene	gene with protein product		602780		BCNG1		9405696, 9630217, 16382102	Standard	NM_021072		Approved	BCNG-1, HAC-2	uc003jok.3	O60741	OTTHUMG00000131155	ENST00000303230.4:c.541G>T	5.37:g.45645595C>A	ENSP00000307342:p.Ala181Ser						p.A181S	NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN			2	598	-			181						Missense_Mutation	SNP	ENST00000303230.4	37	c.541G>T	CCDS3952.1	.	.	.	.	.	.	.	.	.	.	C	16.30	3.083997	0.55861	.	.	ENSG00000164588	ENST00000303230	D	0.98550	-4.99	5.37	5.37	0.77165	Ion transport (1);	0.000000	0.64402	D	0.000018	D	0.96525	0.8866	L	0.41573	1.285	0.53688	D	0.999977	B	0.02656	0.0	B	0.16722	0.016	D	0.93552	0.6887	10	0.52906	T	0.07	.	19.1028	0.93281	0.0:1.0:0.0:0.0	.	181	O60741	HCN1_HUMAN	S	181	ENSP00000307342:A181S	ENSP00000307342:A181S	A	-	1	0	HCN1	45681352	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.920000	0.70017	2.520000	0.84964	0.555000	0.69702	GCA		0.373	HCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253847.1	NM_021072		19	61	1	0	1.90627e-21	1	2.09689e-21	19	61					A	45645595	C	A	45645595	3	1	212	1	0	0	0	0	1	0	0	0	6996	739	26	5	2159	5	HCN1	5	45645595	Missense_Mutation	SNP	C	TCGA-HC-7738-01A-11D-2114-08	9769145	45645595	135269665	25	9762	52	2									
HCN1	348980	broad.mit.edu	37	chr5	45645596	45645596	+	Silent	SNP	C	C	T																															aggaaaactgtatctgatgcCacattgaaaataatccatgg																										TCGA-HC-7738-01A-11D-2114-08	TCGA-HC-7738-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af73b3d5-51db-4b4d-b56a-196c61830450	573b63e8-ecb6-4c86-932a-fd674800d592	g.chr5:45645596C>T	ENST00000303230.4	-	2	597	c.540G>A	c.(538-540)gtG>gtA	p.V180V		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	180					apical protein localization (GO:0045176)|cellular response to cAMP (GO:0071320)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|retinal cone cell development (GO:0046549)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|intracellular cAMP activated cation channel activity (GO:0005222)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated sodium channel activity (GO:0005248)			NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						TATCTGATGCCACATTGAAAA	0.373																																						ENST00000303230.4																			0				NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						c.(538-540)gtG>gtA		hyperpolarization activated cyclic nucleotide-gated potassium channel 1							88	87	87					5																	45645596		2203	4300	6503	SO:0001819	synonymous_variant	348980					integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity	g.chr5:45645596C>T	AF064876	CCDS3952.1	5p12	2011-07-05			ENSG00000164588	ENSG00000164588		"Voltage-gated ion channels / Cyclic nucleotide-regulated channels"	4845	protein-coding gene	gene with protein product		602780		BCNG1		9405696, 9630217, 16382102	Standard	NM_021072		Approved	BCNG-1, HAC-2	uc003jok.3	O60741	OTTHUMG00000131155	ENST00000303230.4:c.540G>A	5.37:g.45645596C>T							p.V180V	NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN			2	597	-			180						Silent	SNP	ENST00000303230.4	37	c.540G>A	CCDS3952.1																																																																																				0.373	HCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253847.1	NM_021072		18	62	0	0	0	1	0	18	62					T	45645596	C	T	45645596	2	4	212	1	0	0	0	0	0	0	0	1	6996	581	21	3		3	HCN1	5	45645596	Silent	SNP	C	TCGA-HC-7738-01A-11D-2114-08	1	45645596	135269664	26	9763	52	2									
IL4	3565	broad.mit.edu	37	chr5	132010172	132010172	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctctgtgcaccgagttgaccGtaacagacatctttgctgcc	8	11	9	13	2	2	2	0	1	2	1	2	3	2	2	3	0	4	4	3	0	1	3	rs56279116	byFrequency	TCGA-HC-7738-01A-11D-2114-08	TCGA-HC-7738-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af73b3d5-51db-4b4d-b56a-196c61830450	573b63e8-ecb6-4c86-932a-fd674800d592	g.chr5:132010172G>A	ENST00000231449.2	+	2	222	c.157G>A	c.(157-159)Gta>Ata	p.V53I	IL4_ENST00000350025.2_Intron|IL4_ENST00000495905.1_3'UTR	NM_000589.3	NP_000580.1	P05112	IL4_HUMAN	interleukin 4	53					B cell costimulation (GO:0031296)|B cell differentiation (GO:0030183)|cellular defense response (GO:0006968)|cellular response to mercury ion (GO:0071288)|chemotaxis (GO:0006935)|cholesterol metabolic process (GO:0008203)|connective tissue growth factor biosynthetic process (GO:0045189)|defense response to protozoan (GO:0042832)|dendritic cell differentiation (GO:0097028)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|female pregnancy (GO:0007565)|immune response (GO:0006955)|innate immune response in mucosa (GO:0002227)|negative regulation of acute inflammatory response (GO:0002674)|negative regulation of apoptotic process (GO:0043066)|negative regulation of chronic inflammatory response (GO:0002677)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of macrophage activation (GO:0043031)|negative regulation of nitric oxide biosynthetic process (GO:0045019)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of T-helper 17 cell differentiation (GO:2000320)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of chemokine biosynthetic process (GO:0045080)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-13 production (GO:0032736)|positive regulation of isotype switching to IgE isotypes (GO:0048295)|positive regulation of isotype switching to IgG isotypes (GO:0048304)|positive regulation of MHC class II biosynthetic process (GO:0045348)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of T cell differentiation (GO:0045582)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|regulation of immune response (GO:0050776)|regulation of isotype switching (GO:0045191)|regulation of phosphorylation (GO:0042325)|regulation of proton transport (GO:0010155)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to nutrient (GO:0007584)|response to organic cyclic compound (GO:0014070)|T-helper 1 cell lineage commitment (GO:0002296)|T-helper 2 cell cytokine production (GO:0035745)|T-helper 2 cell differentiation (GO:0045064)|type 2 immune response (GO:0042092)	external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)	growth factor activity (GO:0008083)|interleukin-4 receptor binding (GO:0005136)			NS(1)|large_intestine(3)|lung(3)|prostate(1)	8		all_cancers(142;2.81e-05)|all_lung(232;1.47e-05)|Lung NSC(810;2.31e-05)|all_neural(839;0.0459)|Ovarian(839;0.0481)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	GBM - Glioblastoma multiforme(465;0.00245)		CGAGTTGACCGTAACAGACAT	0.498													G|||	7	0.00139776	8e-04	0	5008	,	,		20842	0.005		0	False		,,,				2504	0.001					ENST00000231449.2																			0				NS(1)|large_intestine(3)|lung(3)|prostate(1)	8						c.(157-159)Gta>Ata		interleukin 4							145	129	134					5																	132010172		2203	4300	6503	SO:0001583	missense	3565				B cell differentiation|cellular defense response|chemotaxis|cholesterol metabolic process|connective tissue growth factor biosynthetic process|negative regulation of apoptosis|negative regulation of osteoclast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of B cell proliferation|positive regulation of interleukin-13 production|positive regulation of isotype switching to IgE isotypes|positive regulation of isotype switching to IgG isotypes|positive regulation of MHC class II biosynthetic process|positive regulation of T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|T-helper 2 cell cytokine production	extracellular space	cytokine activity|growth factor activity|interleukin-4 receptor binding	g.chr5:132010172G>A	M23442	CCDS4158.1, CCDS4159.1	5q23-q31	2011-07-14			ENSG00000113520	ENSG00000113520		"Interleukins and interleukin receptors"	6014	protein-coding gene	gene with protein product	"B_cell stimulatory factor 1", "lymphocyte stimulatory factor 1", "B cell growth factor 1"	147780				3016727	Standard	NM_000589		Approved	BSF1, IL-4, BCGF1, BCGF-1, MGC79402	uc003kxk.2	P05112	OTTHUMG00000059724	ENST00000231449.2:c.157G>A	5.37:g.132010172G>A	ENSP00000231449:p.Val53Ile					IL4_ENST00000350025.2_Intron|IL4_ENST00000495905.1_3'UTR	p.V53I	NM_000589.3	NP_000580.1	P05112	IL4_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	GBM - Glioblastoma multiforme(465;0.00245)	2	222	+		all_cancers(142;2.81e-05)|all_lung(232;1.47e-05)|Lung NSC(810;2.31e-05)|all_neural(839;0.0459)|Ovarian(839;0.0481)|Breast(839;0.198)	53					Q14630|Q6NZ77	Missense_Mutation	SNP	ENST00000231449.2	37	c.157G>A	CCDS4158.1	5	0.0022893772893772895	1	0.0020325203252032522	0	0.0	4	0.006993006993006993	0	0.0	G	10.61	1.397483	0.25205	.	.	ENSG00000113520	ENST00000231449	T	0.57273	0.41	5.57	1.69	0.24217	Four-helical cytokine-like, core (1);Interleukin-4/interleukin-13, conserved site (1);Four-helical cytokine, core (1);	0.309039	0.23491	N	0.047615	T	0.26376	0.0644	N	0.17345	0.48	0.22213	N	0.999286	B	0.20052	0.041	B	0.23419	0.046	T	0.17379	-1.0371	10	0.42905	T	0.14	-9.9053	9.418	0.38534	0.2775:0.0:0.7225:0.0	rs56279116	53	P05112	IL4_HUMAN	I	53	ENSP00000231449:V53I	ENSP00000231449:V53I	V	+	1	0	IL4	132038071	0.039000	0.19947	0.000000	0.03702	0.000000	0.00434	0.745000	0.26259	0.025000	0.15241	-0.940000	0.02684	GTA		0.498	IL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132786.1	NM_000589		3	101	0	0	0	1	0	3	101					A	132010172	G	A	132010172	3	1	212	1	0	0	0	0	1	0	0	0	7696	1145	40	1	163	1	IL4	5	132010172	Missense_Mutation	SNP	G	TCGA-HC-7738-01A-11D-2114-08	86364576	132010172	48905088	27	9764											
FBXO38	81545	broad.mit.edu	37	chr5	147781990	147781990	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcatattttggggaaatttcGtaatcgtaatggagcttttc	10	17	9	5	2	1	0	1	0	0	0	4	2	1	2	0	3	1	3	0	3	4	8			TCGA-HC-7738-01A-11D-2114-08	TCGA-HC-7738-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af73b3d5-51db-4b4d-b56a-196c61830450	573b63e8-ecb6-4c86-932a-fd674800d592	g.chr5:147781990G>A	ENST00000340253.5	+	5	674	c.506G>A	c.(505-507)cGt>cAt	p.R169H	FBXO38_ENST00000296701.6_Missense_Mutation_p.R169H|FBXO38_ENST00000509699.2_3'UTR|FBXO38_ENST00000513826.1_Missense_Mutation_p.R169H|FBXO38_ENST00000394370.3_Missense_Mutation_p.R169H			Q6PIJ6	FBX38_HUMAN	F-box protein 38	169					cell death (GO:0008219)	cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.R169H(1)	ATG4C/FBXO38(2)	NS(1)|breast(2)|endometrium(7)|kidney(5)|large_intestine(9)|lung(15)|ovary(5)|prostate(2)|skin(2)|stomach(2)|urinary_tract(1)	51			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGGAAATTTCGTAATCGTAAT	0.353																																						ENST00000340253.5																		ATG4C/FBXO38(2)	1	Substitution - Missense(1)	p.R169H(1)	breast(1)	NS(1)|breast(2)|endometrium(7)|kidney(5)|large_intestine(9)|lung(15)|ovary(5)|prostate(2)|skin(2)|stomach(2)|urinary_tract(1)	51						c.(505-507)cGt>cAt		F-box protein 38							131	131	131					5																	147781990		2203	4300	6503	SO:0001583	missense	81545					cytoplasm|nucleus		g.chr5:147781990G>A	BC005873	CCDS43384.1, CCDS64285.1	5q33.1	2008-02-05			ENSG00000145868	ENSG00000145868		"F-boxes /  "other""	28844	protein-coding gene	gene with protein product		608533				12477932	Standard	NM_030793		Approved	MOKA, SP329, FLJ13962, Fbx38	uc003lpg.2	Q6PIJ6	OTTHUMG00000129929	ENST00000340253.5:c.506G>A	5.37:g.147781990G>A	ENSP00000342023:p.Arg169His					FBXO38_ENST00000509699.2_3'UTR|FBXO38_ENST00000513826.1_Missense_Mutation_p.R169H|FBXO38_ENST00000296701.6_Missense_Mutation_p.R169H|FBXO38_ENST00000394370.3_Missense_Mutation_p.R169H	p.R169H			Q6PIJ6	FBX38_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		5	674	+			169					Q6PK72|Q7Z2U0|Q86VN3|Q9BXY6|Q9H837|Q9HC40	Missense_Mutation	SNP	ENST00000340253.5	37	c.506G>A		.	.	.	.	.	.	.	.	.	.	G	36	5.666486	0.96745	.	.	ENSG00000145868	ENST00000340253;ENST00000296701;ENST00000394370;ENST00000513826	T;T;T;T	0.38077	1.16;5.48;1.17;5.48	5.76	5.76	0.90799	.	0.054297	0.64402	D	0.000001	T	0.47581	0.1453	L	0.27053	0.805	0.80722	D	1	D;D;D	0.89917	1.0;0.995;0.997	D;P;P	0.62955	0.909;0.809;0.799	T	0.44697	-0.9311	10	0.72032	D	0.01	-15.2077	18.8946	0.92419	0.0:0.0:1.0:0.0	.	169;169;169	Q6PIJ6-3;Q6PIJ6-2;Q6PIJ6	.;.;FBX38_HUMAN	H	169	ENSP00000342023:R169H;ENSP00000296701:R169H;ENSP00000377895:R169H;ENSP00000426410:R169H	ENSP00000296701:R169H	R	+	2	0	FBXO38	147762183	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.638000	0.83328	2.871000	0.98454	0.655000	0.94253	CGT		0.353	FBXO38-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000252185.2	NM_030793		4	78	0	0	0	1	0	4	78					A	147781990	G	A	147781990	3	1	212	1	0	0	0	0	1	0	0	0	5746	1145	40	1	520	1	FBXO38	5	147781990	Missense_Mutation	SNP	G	TCGA-HC-7738-01A-11D-2114-08	15771818	147781990	33133270	28	9765											
PCYOX1L	78991	broad.mit.edu	37	chr5	148747813	148747813	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcccctttgccaacatccttAccacagatttccccagcttc	8	12	3	18	0	0	1	0	0	0	1	4	1	3	1	7	0	4	1	7	0	2	4			TCGA-HC-7738-01A-11D-2114-08	TCGA-HC-7738-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af73b3d5-51db-4b4d-b56a-196c61830450	ef449499-0238-4585-afc7-fd792d26fe32	g.chr5:148747813A>G	ENST00000274569.4	+	6	1143	c.1081A>G	c.(1081-1083)Acc>Gcc	p.T361A	PCYOX1L_ENST00000514349.1_Missense_Mutation_p.T271A	NM_024028.3	NP_076933.3	Q8NBM8	PCYXL_HUMAN	prenylcysteine oxidase 1 like	361					prenylcysteine catabolic process (GO:0030328)	extracellular region (GO:0005576)|membrane (GO:0016020)	prenylcysteine oxidase activity (GO:0001735)			breast(2)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	11			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAACATCCTTACCACAGATTT	0.557											OREG0016912	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									Ovarian(62;1136 1477 27277 27495)	ENST00000514349.1																			0				breast(2)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	11						c.(811-813)Acc>Gcc		prenylcysteine oxidase 1 like							181	178	179					5																	148747813		2203	4300	6503	SO:0001583	missense	78991				prenylcysteine catabolic process	extracellular region	oxidoreductase activity, acting on a sulfur group of donors, oxygen as acceptor	g.chr5:148747813A>G		CCDS4296.1	5q33.1	2008-02-05			ENSG00000145882	ENSG00000145882			28477	protein-coding gene	gene with protein product						12477932	Standard	NM_024028		Approved	MGC3265	uc003lqk.2	Q8NBM8	OTTHUMG00000130052	ENST00000274569.4:c.1081A>G	5.37:g.148747813A>G	ENSP00000274569:p.Thr361Ala		OREG0016912	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1719	PCYOX1L_ENST00000274569.4_Missense_Mutation_p.T361A	p.T271A			Q8NBM8	PCYXL_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		5	1390	+			361					Q7Z4S2|Q8NCY5|Q8NF69|Q9BTE8|Q9BWS3	Missense_Mutation	SNP	ENST00000274569.4	37	c.811A>G	CCDS4296.1	.	.	.	.	.	.	.	.	.	.	A	13.36	2.213418	0.39102	.	.	ENSG00000145882	ENST00000274569;ENST00000514349	T;T	0.15834	2.39;2.39	5.63	3.11	0.35812	Prenylcysteine lyase (1);	0.103921	0.64402	D	0.000004	T	0.16642	0.0400	L	0.45228	1.405	0.53005	D	0.999968	B;P;P	0.44627	0.006;0.839;0.662	B;P;B	0.45660	0.015;0.489;0.376	T	0.00984	-1.1491	10	0.72032	D	0.01	-48.0405	6.3646	0.21447	0.695:0.0:0.0749:0.2301	.	243;271;361	B3KXF9;E7EVZ5;Q8NBM8	.;.;PCYXL_HUMAN	A	361;271	ENSP00000274569:T361A;ENSP00000428512:T271A	ENSP00000274569:T361A	T	+	1	0	PCYOX1L	148728006	1.000000	0.71417	0.952000	0.39060	0.814000	0.46013	5.059000	0.64306	2.131000	0.65755	0.459000	0.35465	ACC		0.557	PCYOX1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252331.2	NM_024028		4	207	0	0	0	1	0	4	207					G	148747813	A	G	148747813	3	3	212	1	0	0	0	0	1	0	0	0	11609	391	14	4	1103	4	PCYOX1L	5	148747813	Missense_Mutation	SNP	A	TCGA-HC-7738-01A-11D-2114-08	965823	148747813	32167447	29	9766											
UHRF1BP1	54887	broad.mit.edu	37	chr6	34839640	34839640	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgaagtacttaaaagtgagAagagacagcccccaaaagaa	19	5	9	8	0	0	4	0	2	0	3	0	6	0	4	2	0	2	1	2	0	8	2			TCGA-HC-7738-01A-11D-2114-08	TCGA-HC-7738-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af73b3d5-51db-4b4d-b56a-196c61830450	573b63e8-ecb6-4c86-932a-fd674800d592	g.chr6:34839640A>C	ENST00000192788.5	+	20	4306	c.4135A>C	c.(4135-4137)Aag>Cag	p.K1379Q	UHRF1BP1_ENST00000452449.2_Missense_Mutation_p.K1379Q	NM_017754.3	NP_060224.3	Q6BDS2	URFB1_HUMAN	UHRF1 binding protein 1	1379							histone deacetylase binding (GO:0042826)|identical protein binding (GO:0042802)			breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(24)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	54						TAAAAGTGAGAAGAGACAGCC	0.468																																						ENST00000192788.5																			0				breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(24)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	54						c.(4135-4137)Aag>Cag		UHRF1 binding protein 1							51	49	50					6																	34839640		1863	4098	5961	SO:0001583	missense	54887							g.chr6:34839640A>C	AB126777	CCDS43455.1	6p21.31	2008-10-28	2008-08-15	2007-11-27	ENSG00000065060	ENSG00000065060			21216	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 107"	C6orf107			Standard	NM_017754		Approved	FLJ20302, dJ349A12.1, ICBP90	uc003oju.4	Q6BDS2	OTTHUMG00000014557	ENST00000192788.5:c.4135A>C	6.37:g.34839640A>C	ENSP00000192788:p.Lys1379Gln					UHRF1BP1_ENST00000452449.2_Missense_Mutation_p.K1379Q	p.K1379Q	NM_017754.3	NP_060224.3	Q6BDS2	URFB1_HUMAN			20	4306	+			1379					Q9NXE0	Missense_Mutation	SNP	ENST00000192788.5	37	c.4135A>C	CCDS43455.1	.	.	.	.	.	.	.	.	.	.	A	7.832	0.720001	0.15372	.	.	ENSG00000065060	ENST00000192788;ENST00000452449	T;T	0.09163	3.07;3.01	6.08	3.58	0.41010	.	0.445995	0.26556	N	0.023705	T	0.01940	0.0061	L	0.43152	1.355	0.22378	N	0.999155	P	0.51933	0.949	B	0.38264	0.269	T	0.28713	-1.0035	10	0.10636	T	0.68	-20.1217	3.3877	0.07277	0.6543:0.0:0.1776:0.1681	.	1379	Q6BDS2	URFB1_HUMAN	Q	1379	ENSP00000192788:K1379Q;ENSP00000400628:K1379Q	ENSP00000192788:K1379Q	K	+	1	0	UHRF1BP1	34947618	1.000000	0.71417	1.000000	0.80357	0.300000	0.27592	1.839000	0.39220	1.129000	0.42072	0.533000	0.62120	AAG		0.468	UHRF1BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040260.1	NM_017754		5	40	0	0	0	1	0	5	40					C	34839640	A	C	34839640	3	2	212	1	0	0	0	0	1	0	0	0	16965	247	9	5	4213	5	UHRF1BP1	6	34839640	Missense_Mutation	SNP	A	TCGA-HC-7738-01A-11D-2114-08		34839640	136275427	30	9767											
SOBP	55084	broad.mit.edu	37	chr6	107954878	107954878	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcttccagctgggctgtgcaGcacattacaccctcccatgg	7	10	9	15	0	1	0	0	0	1	0	3	0	3	0	3	2	4	4	3	2	1	2			TCGA-HC-7738-01A-11D-2114-08	TCGA-HC-7738-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af73b3d5-51db-4b4d-b56a-196c61830450	573b63e8-ecb6-4c86-932a-fd674800d592	g.chr6:107954878G>A	ENST00000317357.5	+	6	1489	c.830G>A	c.(829-831)aGc>aAc	p.S277N		NM_018013.3	NP_060483.3			sine oculis binding protein homolog (Drosophila)											endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	26		all_cancers(87;5.26e-06)|Acute lymphoblastic leukemia(125;2.87e-08)|all_hematologic(75;1.14e-06)|all_epithelial(87;0.00193)|Colorectal(196;0.156)		BRCA - Breast invasive adenocarcinoma(108;0.026)|all cancers(137;0.087)|Epithelial(106;0.104)|OV - Ovarian serous cystadenocarcinoma(136;0.154)		GGGCTGTGCAGCACATTACAC	0.488																																						ENST00000317357.5																			0				endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	26						c.(829-831)aGc>aAc		sine oculis binding protein homolog (Drosophila)							66	71	69					6																	107954878		1938	4114	6052	SO:0001583	missense	55084						metal ion binding	g.chr6:107954878G>A	AK001021	CCDS43488.1	6q21	2007-03-15			ENSG00000112320	ENSG00000112320			29256	protein-coding gene	gene with protein product		613667					Standard	NM_018013		Approved	FLJ10159	uc003prx.3	A7XYQ1	OTTHUMG00000015312	ENST00000317357.5:c.830G>A	6.37:g.107954878G>A	ENSP00000318900:p.Ser277Asn						p.S277N	NM_018013.3	NP_060483.3	A7XYQ1	SOBP_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.026)|all cancers(137;0.087)|Epithelial(106;0.104)|OV - Ovarian serous cystadenocarcinoma(136;0.154)	6	1489	+		all_cancers(87;5.26e-06)|Acute lymphoblastic leukemia(125;2.87e-08)|all_hematologic(75;1.14e-06)|all_epithelial(87;0.00193)|Colorectal(196;0.156)	277						Missense_Mutation	SNP	ENST00000317357.5	37	c.830G>A	CCDS43488.1	.	.	.	.	.	.	.	.	.	.	G	6.979	0.550654	0.13374	.	.	ENSG00000112320	ENST00000317357	T	0.29655	1.56	5.52	5.52	0.82312	.	0.237737	0.42420	D	0.000719	T	0.04137	0.0115	N	0.01048	-1.04	0.34224	D	0.675749	B	0.02656	0.0	B	0.06405	0.002	T	0.31081	-0.9956	10	0.16896	T	0.51	-1.9086	13.0677	0.59043	0.0738:0.0:0.9262:0.0	.	277	A7XYQ1	SOBP_HUMAN	N	277	ENSP00000318900:S277N	ENSP00000318900:S277N	S	+	2	0	SOBP	108061571	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	5.573000	0.67417	2.755000	0.94549	0.591000	0.81541	AGC		0.488	SOBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041693.2	NM_018013		3	85	0	0	0	1	0	3	85					A	107954878	G	A	107954878	3	1	212	1	0	0	0	0	1	0	0	0	14912	971	34	3	852	3	SOBP	6	107954878	Missense_Mutation	SNP	G	TCGA-HC-7738-01A-11D-2114-08	73115238	107954878	63160189	31	9768											
C6orf204	387119	broad.mit.edu	37	chr6	118790285	118790285	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctccttgccctgagcacgcTgattaagaatactacacaat	12	10	7	12	1	0	3	0	2	0	1	1	3	1	3	2	0	4	3	2	0	5	4			TCGA-HC-7738-01A-11D-2114-08	TCGA-HC-7738-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af73b3d5-51db-4b4d-b56a-196c61830450	573b63e8-ecb6-4c86-932a-fd674800d592	g.chr6:118790285T>C	ENST00000368491.3	-	12	2825	c.2204A>G	c.(2203-2205)cAg>cGg	p.Q735R	CEP85L_ENST00000368488.5_Missense_Mutation_p.Q738R	NM_001042475.2	NP_001035940.1	Q5SZL2	CE85L_HUMAN	centrosomal protein 85kDa-like	735						centrosome (GO:0005813)|cytoplasm (GO:0005737)											CTGAGCACGCTGATTAAGAAT	0.383																																						ENST00000368491.3																			0											c.(2203-2205)cAg>cGg		centrosomal protein 85kDa-like							97	95	96					6																	118790285		1991	4187	6178	SO:0001583	missense	387119					centrosome		g.chr6:118790285T>C	AF308284	CCDS5119.2, CCDS43498.1, CCDS55052.1	6q22.31	2011-11-25	2011-11-25	2011-11-25	ENSG00000111860	ENSG00000111860			21638	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 204"	C6orf204			Standard	NM_206921		Approved	NY-BR-15, bA57K17.2	uc003pya.2	Q5SZL2	OTTHUMG00000015465	ENST00000368491.3:c.2204A>G	6.37:g.118790285T>C	ENSP00000357477:p.Gln735Arg					CEP85L_ENST00000368488.5_Missense_Mutation_p.Q738R	p.Q735R	NM_001042475.2	NP_001035940.1	Q5SZL2	CF204_HUMAN			12	2825	-			735					A1A4E1|A2A3P2|A2IDE5|F8W6J2|G3V0H3|Q2TAM2|Q5T323|Q7Z5K7|Q9H289	Missense_Mutation	SNP	ENST00000368491.3	37	c.2204A>G	CCDS43498.1	.	.	.	.	.	.	.	.	.	.	T	28.8	4.953912	0.92660	.	.	ENSG00000111860	ENST00000368491;ENST00000368488	T;T	0.11930	2.73;2.73	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.20901	0.0503	M	0.72118	2.19	0.48087	D	0.999581	P	0.52316	0.952	P	0.53360	0.724	T	0.00472	-1.1719	10	0.49607	T	0.09	-12.0055	16.8222	0.85835	0.0:0.0:0.0:1.0	.	735	Q5SZL2	CF204_HUMAN	R	735;738	ENSP00000357477:Q735R;ENSP00000357474:Q738R	ENSP00000357474:Q738R	Q	-	2	0	C6orf204	118896978	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.938000	0.75904	2.371000	0.80710	0.533000	0.62120	CAG		0.383	CEP85L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041996.2	NM_001042475		13	72	0	0	0	1	0	13	72					C	118790285	T	C	118790285	3	2	212	1	0	0	0	0	1	0	0	0	2353	1580	55	4	221	4	C6orf204	6	118790285	Missense_Mutation	SNP	T	TCGA-HC-7738-01A-11D-2114-08	10835407	118790285	52324782	32	9769											
KCNB2	9312	broad.mit.edu	37	chr8	73480145	73480145	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctggacaggctgcccaggaCgcgcctggggaagcttcgag	7	5	17	12	3	0	0	0	0	0	0	1	4	0	3	2	5	2	3	2	5	1	1			TCGA-HC-7738-01A-11D-2114-08	TCGA-HC-7738-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af73b3d5-51db-4b4d-b56a-196c61830450	573b63e8-ecb6-4c86-932a-fd674800d592	g.chr8:73480145C>T	ENST00000523207.1	+	2	764	c.176C>T	c.(175-177)aCg>aTg	p.T59M		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	59					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of smooth muscle contraction (GO:0006940)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)		Dalfampridine(DB06637)	CTGCCCAGGACGCGCCTGGGG	0.537																																						ENST00000523207.1																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85						c.(175-177)aCg>aTg		potassium voltage-gated channel, Shab-related subfamily, member 2							66	68	67					8																	73480145		2203	4300	6503	SO:0001583	missense	9312				regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding	g.chr8:73480145C>T	U69962	CCDS6209.1	8q13.2	2012-07-05			ENSG00000182674	ENSG00000182674		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6232	protein-coding gene	gene with protein product		607738				9612272, 16382104	Standard	NM_004770		Approved	Kv2.2	uc003xzb.3	Q92953	OTTHUMG00000164498	ENST00000523207.1:c.176C>T	8.37:g.73480145C>T	ENSP00000430846:p.Thr59Met						p.T59M	NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	Epithelial(68;0.105)		2	764	+	Breast(64;0.137)		59					Q7Z7D0|Q9BXD3	Missense_Mutation	SNP	ENST00000523207.1	37	c.176C>T	CCDS6209.1	.	.	.	.	.	.	.	.	.	.	C	29.4	5.004318	0.93287	.	.	ENSG00000182674	ENST00000523207	D	0.82081	-1.57	5.71	5.71	0.89125	BTB/POZ-like (1);BTB/POZ fold (2);Potassium channel, voltage dependent, Kv, tetramerisation (1);	.	.	.	.	D	0.93877	0.8041	M	0.93328	3.405	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.94789	0.7960	9	0.87932	D	0	.	19.8677	0.96824	0.0:1.0:0.0:0.0	.	59	Q92953	KCNB2_HUMAN	M	59	ENSP00000430846:T59M	ENSP00000430846:T59M	T	+	2	0	KCNB2	73642699	1.000000	0.71417	0.950000	0.38849	0.986000	0.74619	7.818000	0.86416	2.709000	0.92574	0.655000	0.94253	ACG		0.537	KCNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378998.1	NM_004770		27	74	0	0	0	1	0	27	74					T	73480145	C	T	73480145	3	4	212	1	0	0	0	0	1	0	0	0	8013	536	19	1	178	1	KCNB2	8	73480145	Missense_Mutation	SNP	C	TCGA-HC-7738-01A-11D-2114-08		73480145	72883877	33	9770											
PLEC	5339	broad.mit.edu	37	chr8	144998994	144998994	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgctgctgcgcggtgccttcCgccagctgccgctgcttctc	1	10	12	18	5	1	0	0	0	1	0	3	0	2	0	4	1	6	5	4	1	0	2	rs542255749		TCGA-HC-7738-01A-11D-2114-08	TCGA-HC-7738-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af73b3d5-51db-4b4d-b56a-196c61830450	573b63e8-ecb6-4c86-932a-fd674800d592	g.chr8:144998994C>T	ENST00000322810.4	-	31	5683	c.5514G>A	c.(5512-5514)gcG>gcA	p.A1838A	PLEC_ENST00000354958.2_Silent_p.A1679A|PLEC_ENST00000527096.1_Silent_p.A1724A|PLEC_ENST00000436759.2_Silent_p.A1728A|PLEC_ENST00000398774.2_Silent_p.A1669A|PLEC_ENST00000345136.3_Silent_p.A1701A|PLEC_ENST00000357649.2_Silent_p.A1705A|PLEC_ENST00000356346.3_Silent_p.A1687A|PLEC_ENST00000354589.3_Silent_p.A1701A	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	1838	Central fibrous rod domain.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						CGGTGCCTTCCGCCAGCTGCC	0.746													C|||	1	0.000199681	0	0	5008	,	,		9841	0.001		0	False		,,,				2504	0					ENST00000322810.4																			0				NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						c.(5512-5514)gcG>gcA		plectin							2	3	3					8																	144998994		1646	3458	5104	SO:0001819	synonymous_variant	5339				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle	g.chr8:144998994C>T	U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"plectin 1, intermediate filament binding protein, 500kD", "epidermolysis bullosa simplex 1 (Ogna)", "plectin 1, intermediate filament binding protein 500kDa"	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.5514G>A	8.37:g.144998994C>T						PLEC_ENST00000357649.2_Silent_p.A1705A|PLEC_ENST00000354958.2_Silent_p.A1679A|PLEC_ENST00000345136.3_Silent_p.A1701A|PLEC_ENST00000354589.3_Silent_p.A1701A|PLEC_ENST00000527096.1_Silent_p.A1724A|PLEC_ENST00000398774.2_Silent_p.A1669A|PLEC_ENST00000436759.2_Silent_p.A1728A|PLEC_ENST00000356346.3_Silent_p.A1687A	p.A1838A	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN			31	5683	-			1838			Central fibrous rod domain.		Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Silent	SNP	ENST00000322810.4	37	c.5514G>A	CCDS43772.1																																																																																				0.746	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	NM_000445		3	8	0	0	0	1	0	3	8					T	144998994	C	T	144998994	2	4	212	1	0	0	0	0	0	0	0	1	12052	639	23	2		2	PLEC	8	144998994	Silent	SNP	C	TCGA-HC-7738-01A-11D-2114-08	71518849	144998994	1365028	34	9771											
NET1	10276	broad.mit.edu	37	chr10	5493806	5493806	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tttataggagccaagcaataAaagagttcgacctctggctc	13	10	9	9	1	1	1	0	0	1	1	3	3	1	2	2	2	2	3	2	2	6	5			TCGA-HC-7738-01A-11D-2114-08	TCGA-HC-7738-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af73b3d5-51db-4b4d-b56a-196c61830450	573b63e8-ecb6-4c86-932a-fd674800d592	g.chr10:5493806A>C	ENST00000355029.4	+	4	411	c.269A>C	c.(268-270)aAa>aCa	p.K90T	NET1_ENST00000380359.3_Missense_Mutation_p.K36T|NET1_ENST00000542715.1_5'UTR	NM_001047160.2	NP_001040625.1	Q7Z628	ARHG8_HUMAN	neuroepithelial cell transforming 1	90					apoptotic signaling pathway (GO:0097190)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to ionizing radiation (GO:0071479)|myoblast migration (GO:0051451)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|regulation of cell growth (GO:0001558)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(4)|kidney(2)|large_intestine(9)|lung(5)|prostate(2)|skin(1)	23						CCAAGCAATAAAAGAGTTCGA	0.388																																						ENST00000355029.4																			0				breast(4)|kidney(2)|large_intestine(9)|lung(5)|prostate(2)|skin(1)	23						c.(268-270)aAa>aCa		neuroepithelial cell transforming 1							157	164	162					10																	5493806		2203	4300	6503	SO:0001583	missense	10276				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of cell growth|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|nucleus	Rho guanyl-nucleotide exchange factor activity	g.chr10:5493806A>C	AJ010046	CCDS7067.1, CCDS41483.1	10p15	2013-01-10	2008-09-12		ENSG00000173848	ENSG00000173848		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	14592	protein-coding gene	gene with protein product		606450				8649828	Standard	NR_073040		Approved	ARHGEF8, NET1A	uc001iia.4	Q7Z628	OTTHUMG00000017596	ENST00000355029.4:c.269A>C	10.37:g.5493806A>C	ENSP00000347134:p.Lys90Thr					NET1_ENST00000542715.1_5'UTR|NET1_ENST00000380359.3_Missense_Mutation_p.K36T	p.K90T	NM_001047160.1	NP_001040625.1	Q7Z628	ARHG8_HUMAN			4	411	+			90					Q12773|Q96D82|Q99903|Q9UEN6	Missense_Mutation	SNP	ENST00000355029.4	37	c.269A>C	CCDS41483.1	.	.	.	.	.	.	.	.	.	.	A	23.5	4.427199	0.83667	.	.	ENSG00000173848	ENST00000355029;ENST00000380359	T;T	0.20069	2.46;2.1	5.83	5.83	0.93111	.	0.000000	0.44688	D	0.000432	T	0.49779	0.1577	M	0.80183	2.485	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.996	T	0.54583	-0.8272	10	0.87932	D	0	-25.2661	15.0387	0.71770	1.0:0.0:0.0:0.0	.	36;90	Q5SQI7;Q7Z628	.;ARHG8_HUMAN	T	90;36	ENSP00000347134:K90T;ENSP00000369717:K36T	ENSP00000347134:K90T	K	+	2	0	NET1	5483806	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	8.905000	0.92613	2.231000	0.72958	0.460000	0.39030	AAA		0.388	NET1-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000046553.3	NM_005863		5	125	0	0	0	1	0	5	125					C	5493806	A	C	5493806	3	2	212	1	0	0	0	0	1	0	0	0	10338	14	1	5	380	5	NET1	10	5493806	Missense_Mutation	SNP	A	TCGA-HC-7738-01A-11D-2114-08		5493806	130040941	35	9772											
OLAH	55301	broad.mit.edu	37	chr10	15103733	15103733	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccatctccagtgcactccttAaggcttcctggaagagaaag	11	9	9	12	0	1	1	0	0	1	1	4	3	3	2	4	2	1	2	4	2	3	2			TCGA-HC-7738-01A-11D-2114-08	TCGA-HC-7738-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af73b3d5-51db-4b4d-b56a-196c61830450	573b63e8-ecb6-4c86-932a-fd674800d592	g.chr10:15103733A>G	ENST00000378228.3	+	4	428	c.174A>G	c.(172-174)ttA>ttG	p.L58L	OLAH_ENST00000378217.3_Silent_p.L111L	NM_001039702.2	NP_001034791.1	Q9NV23	SAST_HUMAN	oleoyl-ACP hydrolase	58					fatty acid biosynthetic process (GO:0006633)		myristoyl-[acyl-carrier-protein] hydrolase activity (GO:0016295)|oleoyl-[acyl-carrier-protein] hydrolase activity (GO:0004320)|palmitoyl-[acyl-carrier-protein] hydrolase activity (GO:0016296)			endometrium(2)|large_intestine(1)|lung(14)|stomach(1)	18						TGCACTCCTTAAGGCTTCCTG	0.428																																						ENST00000378217.3																			0				endometrium(2)|large_intestine(1)|lung(14)|stomach(1)	18						c.(331-333)ttA>ttG		oleoyl-ACP hydrolase							106	100	102					10																	15103733		2203	4300	6503	SO:0001819	synonymous_variant	55301				fatty acid biosynthetic process		myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity	g.chr10:15103733A>G	AK001844	CCDS7106.1, CCDS31152.1	10p13	2010-11-23	2006-07-07	2006-07-07	ENSG00000152463	ENSG00000152463	3.1.2.14		25625	protein-coding gene	gene with protein product			"thioesterase domain containing 1"	THEDC1			Standard	NM_018324		Approved	FLJ11106, SAST	uc001inu.2	Q9NV23	OTTHUMG00000017724	ENST00000378228.3:c.174A>G	10.37:g.15103733A>G						OLAH_ENST00000378228.3_Silent_p.L58L	p.L111L	NM_018324.2	NP_060794.1	Q9NV23	SAST_HUMAN			5	520	+			58					Q5VUB6|Q9NUW1	Silent	SNP	ENST00000378228.3	37	c.333A>G	CCDS31152.1																																																																																				0.428	OLAH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046964.1	NM_018324		14	39	0	0	0	1	0	14	39					G	15103733	A	G	15103733	2	3	212	1	0	0	0	0	0	0	0	1	10851	359	13	4		4	OLAH	10	15103733	Silent	SNP	A	TCGA-HC-7738-01A-11D-2114-08	9609927	15103733	120431014	36	9773											
C10orf140	387640	broad.mit.edu	37	chr10	21805698	21805700	+	In_Frame_Del	DEL	GGT	GGT	-																															ctgctgcggcggctgggcccGgtggtggtggtggtggtggt																										TCGA-HC-7738-01A-11D-2114-08	TCGA-HC-7738-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af73b3d5-51db-4b4d-b56a-196c61830450	ef449499-0238-4585-afc7-fd792d26fe32	g.chr10:21805698_21805700delGGT	ENST00000449193.2	-	4	3304_3306	c.1052_1054delACC	c.(1051-1056)caccgg>cgg	p.H351del	SKIDA1_ENST00000487107.1_5'Flank|SKIDA1_ENST00000444772.3_In_Frame_Del_p.H272del	NM_207371.3	NP_997254.3	Q1XH10	SKDA1_HUMAN	SKI/DACH domain containing 1	270	Glu-rich.|Ser-rich.					nucleus (GO:0005634)											GGCTGGGCCCggtggtggtggtg	0.69																																						ENST00000449193.2																			0											c.(1051-1056)cgg>c		SKI/DACH domain containing 1																																				SO:0001651	inframe_deletion	387640							g.chr10:21805698_21805700delGGT	AK131456	CCDS44363.1	10p12.31	2012-06-13	2012-06-13	2012-06-13	ENSG00000180592	ENSG00000180592			32697	protein-coding gene	gene with protein product			"chromosome 10 open reading frame 140"	C10orf140			Standard	NM_207371		Approved	FLJ45187	uc021pnx.1	Q1XH10	OTTHUMG00000017797	ENST00000449193.2:c.1052_1054delACC	10.37:g.21805707_21805709delGGT	ENSP00000410041:p.His351del					SKIDA1_ENST00000444772.3_In_Frame_Del_p.HR272del	p.HR351del	NM_207371.3	NP_997254.3					4	3304_3306	-								B1ANA5|Q6ZMX4|Q8N3C3	In_Frame_Del	DEL	ENST00000449193.2	37	c.1052_1054delACC	CCDS44363.1																																																																																				0.69	SKIDA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286950.2	NM_207371		3	5						3	5	---	---	---	---	-	21805700	GGT	-	21805698	7	5	212	1	0	1	0	1	0	0	0	0	1595	1115	39	0	1676	0	C10orf140	10	21805698	In_Frame_Del	DEL	GGT	TCGA-HC-7738-01A-11D-2114-08	6701965	21805698	113729049	37	9774											
FAM21C	253725	broad.mit.edu	37	chr10	46261197	46261197	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agctcagagagaagagaaagCaaaagcctccgagctctcca	16	4	10	11	1	2	3	1	0	1	3	4	6	3	3	3	0	4	3	3	0	4	0			TCGA-HC-7738-01A-11D-2114-08	TCGA-HC-7738-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af73b3d5-51db-4b4d-b56a-196c61830450	573b63e8-ecb6-4c86-932a-fd674800d592	g.chr10:46261197C>T	ENST00000336378.4	+	19	1926	c.1808C>T	c.(1807-1809)gCa>gTa	p.A603V	FAM21C_ENST00000359860.4_Missense_Mutation_p.A547V|FAM21C_ENST00000540872.1_Missense_Mutation_p.A603V|FAM21C_ENST00000537517.1_Missense_Mutation_p.A579V|FAM21C_ENST00000374362.2_Missense_Mutation_p.A603V	NM_015262.2	NP_056077.2	Q9Y4E1	FA21C_HUMAN	family with sequence similarity 21, member C	603					retrograde transport, endosome to Golgi (GO:0042147)	early endosome (GO:0005769)|endosome (GO:0005768)|plasma membrane (GO:0005886)|WASH complex (GO:0071203)				central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	28						GAAGAGAAAGCAAAAGCCTCC	0.443																																						ENST00000336378.4																			0				central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	28						c.(1807-1809)gCa>gTa		family with sequence similarity 21, member C							104	102	103					10																	46261197		1815	4071	5886	SO:0001583	missense	253725							g.chr10:46261197C>T		CCDS44374.1, CCDS44374.2, CCDS53528.1, CCDS53529.1	10q11.22	2014-05-09			ENSG00000172661	ENSG00000172661			23414	protein-coding gene	gene with protein product		613631				20498093	Standard	NM_015262		Approved	Em:AC012044.3, KIAA0592	uc001jcu.3	Q9Y4E1	OTTHUMG00000018089	ENST00000336378.4:c.1808C>T	10.37:g.46261197C>T	ENSP00000337541:p.Ala603Val					FAM21C_ENST00000374362.2_Missense_Mutation_p.A603V|FAM21C_ENST00000540872.1_Missense_Mutation_p.A603V|FAM21C_ENST00000537517.1_Missense_Mutation_p.A579V|FAM21C_ENST00000359860.4_Missense_Mutation_p.A547V	p.A603V	NM_015262.2	NP_056077.2	A8K5W5	A8K5W5_HUMAN			19	1926	+			603					B4DZQ6|B9EK53|F5H0J6|F5H871|Q5SQU4|Q5SQU5|Q7L521|Q9UG79	Missense_Mutation	SNP	ENST00000336378.4	37	c.1808C>T		.	.	.	.	.	.	.	.	.	.	C	8.784	0.929062	0.18131	.	.	ENSG00000172661	ENST00000336378;ENST00000540872;ENST00000537517;ENST00000374362;ENST00000399588;ENST00000359860;ENST00000436993	.	.	.	3.18	3.18	0.36537	.	0.426666	0.25358	N	0.031246	T	0.51856	0.1699	M	0.76574	2.34	0.35122	D	0.767184	B;B;B;P	0.43662	0.161;0.088;0.088;0.814	B;B;B;B	0.42214	0.116;0.029;0.029;0.38	T	0.64863	-0.6307	9	0.36615	T	0.2	-2.7848	10.06	0.42268	0.0:1.0:0.0:0.0	.	579;603;603;548	F5H871;Q9Y4E1-4;Q9Y4E1;Q9Y4E1-3	.;.;FA21C_HUMAN;.	V	603;603;579;603;603;547;515	.	ENSP00000337541:A603V	A	+	2	0	FAM21C	45581203	0.990000	0.36364	0.867000	0.34043	0.507000	0.33981	1.376000	0.34306	1.797000	0.52628	0.494000	0.49563	GCA		0.443	FAM21C-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding				15	92	0	0	0	1	0	15	92					T	46261197	C	T	46261197	3	4	212	1	0	0	0	0	1	0	0	0	5542	710	25	3	1882	3	FAM21C	10	46261197	Missense_Mutation	SNP	C	TCGA-HC-7738-01A-11D-2114-08	24455499	46261197	89273550	38	9775											
C11orf41	25758	broad.mit.edu	37	chr11	33564307	33564307	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgcctggaagagtgcacaatGgggtgtctttgccaactttt	8	13	12	8	0	1	1	0	0	1	1	1	2	1	2	2	3	4	1	2	3	3	3			TCGA-HC-7738-01A-11D-2114-08	TCGA-HC-7738-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af73b3d5-51db-4b4d-b56a-196c61830450	573b63e8-ecb6-4c86-932a-fd674800d592	g.chr11:33564307G>A	ENST00000321505.4	+	1	487	c.307G>A	c.(307-309)Ggg>Agg	p.G103R	KIAA1549L_ENST00000389726.3_Missense_Mutation_p.G103R|KIAA1549L_ENST00000265654.5_Missense_Mutation_p.G103R			Q6ZVL6	K154L_HUMAN	KIAA1549-like	103						integral component of membrane (GO:0016021)											AGTGCACAATGGGGTGTCTTT	0.522											OREG0020868	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000321505.4																			0											c.(307-309)Ggg>Agg		KIAA1549-like							38	39	39					11																	33564307		1877	4115	5992	SO:0001583	missense	25758							g.chr11:33564307G>A	U10991	CCDS44565.1, CCDS44565.2	11p13	2012-08-09	2012-08-09	2012-08-09	ENSG00000110427	ENSG00000110427			24836	protein-coding gene	gene with protein product		612297	"chromosome 11 open reading frame 69", "chromosome 11 open reading frame 41"	C11orf69, C11orf41			Standard	NM_012194		Approved	G2, MGC34830	uc021qfs.1	Q6ZVL6	OTTHUMG00000150410	ENST00000321505.4:c.307G>A	11.37:g.33564307G>A	ENSP00000315295:p.Gly103Arg		OREG0020868	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	841	KIAA1549L_ENST00000389726.3_Missense_Mutation_p.G103R|KIAA1549L_ENST00000265654.5_Missense_Mutation_p.G103R	p.G103R							1	487	+								B0QYU0	Missense_Mutation	SNP	ENST00000321505.4	37	c.307G>A	CCDS44565.2	.	.	.	.	.	.	.	.	.	.	G	10.27	1.303630	0.23736	.	.	ENSG00000110427	ENST00000321505;ENST00000389726;ENST00000265654	.	.	.	5.19	0.0615	0.14341	.	.	.	.	.	T	0.25158	0.0611	N	0.24115	0.695	0.09310	N	1	B;B	0.20261	0.005;0.043	B;B	0.21546	0.007;0.035	T	0.25537	-1.0129	8	0.23302	T	0.38	.	6.8509	0.24014	0.3276:0.1271:0.5452:0.0	.	103;103	E9PAT2;Q6ZVL6-2	.;.	R	103	.	ENSP00000265654:G103R	G	+	1	0	C11orf41	33520883	0.000000	0.05858	0.016000	0.15963	0.033000	0.12548	0.149000	0.16243	0.116000	0.18110	0.561000	0.74099	GGG		0.522	KIAA1549L-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317998.1	NM_012194		8	23	0	0	0	1	0	8	23					A	33564307	G	A	33564307	3	1	212	1	0	0	0	0	1	0	0	0	1640	1348	47	3	309	3	C11orf41	11	33564307	Missense_Mutation	SNP	G	TCGA-HC-7738-01A-11D-2114-08		33564307	101442209	39	9776											
SYVN1	84447	broad.mit.edu	37	chr11	64900945	64900945	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgagccctgaactcactgccAtgctggggctggacttggtc	6	10	13	12	0	1	2	1	2	0	0	2	3	1	3	2	4	4	2	2	4	1	1			TCGA-HC-7738-01A-11D-2114-08	TCGA-HC-7738-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af73b3d5-51db-4b4d-b56a-196c61830450	573b63e8-ecb6-4c86-932a-fd674800d592	g.chr11:64900945A>C	ENST00000377190.3	-	2	222	c.128T>G	c.(127-129)aTg>aGg	p.M43R	SYVN1_ENST00000526060.1_Missense_Mutation_p.M43R|SYVN1_ENST00000526121.1_5'Flank|SYVN1_ENST00000294256.8_Missense_Mutation_p.M43R|SYVN1_ENST00000307289.6_Missense_Mutation_p.M43R	NM_172230.2	NP_757385.1	Q86TM6	SYVN1_HUMAN	synovial apoptosis inhibitor 1, synoviolin	43					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|in utero embryonic development (GO:0001701)|negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902236)|protein N-linked glycosylation via asparagine (GO:0018279)|protein ubiquitination (GO:0016567)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	acid-amino acid ligase activity (GO:0016881)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22						ACTCACTGCCATGCTGGGGCT	0.632																																						ENST00000526060.1																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22						c.(127-129)aTg>aGg		synovial apoptosis inhibitor 1, synoviolin							75	72	73					11																	64900945		2201	4297	6498	SO:0001583	missense	84447				ER-associated protein catabolic process|response to stress	endoplasmic reticulum membrane|integral to membrane|nucleus	acid-amino acid ligase activity|protein binding|zinc ion binding	g.chr11:64900945A>C	AB085847	CCDS8097.1, CCDS31605.1	11q13	2013-01-09			ENSG00000162298	ENSG00000162298		"RING-type (C3HC4) zinc fingers"	20738	protein-coding gene	gene with protein product	"HMG-coA reductase degradation 1 homolog (S. cerevisiae)"	608046				12975321	Standard	NM_032431		Approved	HRD1, DER3	uc001odb.3	Q86TM6		ENST00000377190.3:c.128T>G	11.37:g.64900945A>C	ENSP00000366395:p.Met43Arg					SYVN1_ENST00000307289.6_Missense_Mutation_p.M43R|SYVN1_ENST00000294256.8_Missense_Mutation_p.M43R|SYVN1_ENST00000377190.3_Missense_Mutation_p.M43R	p.M43R			Q86TM6	SYVN1_HUMAN			2	320	-			43					Q8N3K3|Q8N6E8|Q96JL5|Q96PK3	Missense_Mutation	SNP	ENST00000377190.3	37	c.128T>G	CCDS31605.1	.	.	.	.	.	.	.	.	.	.	A	18.40	3.615884	0.66672	.	.	ENSG00000162298	ENST00000377190;ENST00000294256;ENST00000434219;ENST00000307289;ENST00000526060;ENST00000528487	T;T;T;T;T	0.52526	0.66;0.66;0.66;0.66;0.66	4.21	3.06	0.35304	.	0.000000	0.85682	D	0.000000	T	0.66607	0.2806	M	0.87180	2.865	0.80722	D	1	D;D;D	0.71674	0.998;0.998;0.997	D;D;D	0.70487	0.931;0.969;0.931	T	0.65368	-0.6185	10	0.34782	T	0.22	-19.8162	8.4422	0.32822	0.8255:0.0:0.0:0.1745	.	43;43;43	Q86TM6-2;Q86TM6-3;Q86TM6	.;.;SYVN1_HUMAN	R	43	ENSP00000366395:M43R;ENSP00000294256:M43R;ENSP00000302035:M43R;ENSP00000436984:M43R;ENSP00000431720:M43R	ENSP00000294256:M43R	M	-	2	0	SYVN1	64657521	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.565000	0.73974	0.751000	0.32900	0.533000	0.62120	ATG		0.632	SYVN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000385274.1	NM_032431		7	110	0	0	0	1	0	7	110					C	64900945	A	C	64900945	3	2	212	1	0	0	0	0	1	0	0	0	15484	217	8	5	1785	5	SYVN1	11	64900945	Missense_Mutation	SNP	A	TCGA-HC-7738-01A-11D-2114-08	31336638	64900945	70105571	40	9777											
PCF11	51585	broad.mit.edu	37	chr11	82892950	82892950	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aagaacgggcaaagagccagTtttttgaaaaggtgcatgaa	16	8	12	5	1	0	4	0	2	0	2	0	4	0	4	1	2	3	3	1	2	6	3			TCGA-HC-7738-01A-11D-2114-08	TCGA-HC-7738-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af73b3d5-51db-4b4d-b56a-196c61830450	573b63e8-ecb6-4c86-932a-fd674800d592	g.chr11:82892950T>G	ENST00000298281.4	+	13	4674	c.4222T>G	c.(4222-4224)Ttt>Gtt	p.F1408V	RP11-727A23.4_ENST00000528133.1_RNA	NM_015885.3	NP_056969.2	O94913	PCF11_HUMAN	PCF11 cleavage and polyadenylation factor subunit	1408					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA cleavage (GO:0006379)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	mRNA cleavage factor complex (GO:0005849)|nucleoplasm (GO:0005654)				cervix(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(22)|ovary(1)|urinary_tract(1)	33						AAAGAGCCAGTTTTTTGAAAA	0.388																																						ENST00000298281.4																			0				cervix(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(22)|ovary(1)|urinary_tract(1)	33						c.(4222-4224)Ttt>Gtt		PCF11 cleavage and polyadenylation factor subunit							70	74	73					11																	82892950		1833	4089	5922	SO:0001583	missense	51585				mRNA 3'-end processing|mRNA cleavage|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage factor complex		g.chr11:82892950T>G	AB020631	CCDS44689.1	11q13	2013-07-02	2013-07-02		ENSG00000165494	ENSG00000165494			30097	protein-coding gene	gene with protein product		608876	"PCF11, cleavage and polyadenylation factor II subunit, homolog (S. cerevisiae)", "PCF11, cleavage and polyadenylation factor subunit, homolog (S. cerevisiae)"			11060040	Standard	NM_015885		Approved	KIAA0824	uc001ozx.4	O94913	OTTHUMG00000167031	ENST00000298281.4:c.4222T>G	11.37:g.82892950T>G	ENSP00000298281:p.Phe1408Val					RP11-727A23.4_ENST00000528133.1_RNA	p.F1408V	NM_015885.3	NP_056969.2	O94913	PCF11_HUMAN			13	4674	+			1408					A6H8W7|O43671|Q6P0X8	Missense_Mutation	SNP	ENST00000298281.4	37	c.4222T>G	CCDS44689.1	.	.	.	.	.	.	.	.	.	.	T	23.8	4.455627	0.84209	.	.	ENSG00000165494	ENST00000298281;ENST00000530906	T;T	0.61040	1.7;0.14	5.49	5.49	0.81192	.	0.000000	0.52532	D	0.000061	T	0.74129	0.3676	M	0.70595	2.14	0.58432	D	0.999999	D	0.63880	0.993	D	0.70227	0.968	T	0.75085	-0.3442	9	.	.	.	-11.075	15.5857	0.76479	0.0:0.0:0.0:1.0	.	1408	O94913	PCF11_HUMAN	V	1408;193	ENSP00000298281:F1408V;ENSP00000437076:F193V	.	F	+	1	0	PCF11	82570598	1.000000	0.71417	1.000000	0.80357	0.912000	0.54170	7.579000	0.82511	2.078000	0.62432	0.383000	0.25322	TTT		0.388	PCF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392548.2	NM_015885		9	18	0	0	0	1	0	9	18					G	82892950	T	G	82892950	3	3	212	1	0	0	0	0	1	0	0	0	11573	1725	60	5	4272	5	PCF11	11	82892950	Missense_Mutation	SNP	T	TCGA-HC-7738-01A-11D-2114-08	17992005	82892950	52113566	41	9778											
LRMP	55259	broad.mit.edu	37	chr12	25259959	25259959	+	IGR	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tttctgaaaagaaaaataatCcatcaaagtgggatgtctct	16	12	7	6	0	3	2	1	1	2	1	5	3	4	3	1	1	0	0	1	1	6	2			TCGA-HC-7738-01A-11D-2114-08	TCGA-HC-7738-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af73b3d5-51db-4b4d-b56a-196c61830450	573b63e8-ecb6-4c86-932a-fd674800d592	g.chr12:25259959C>A	ENST00000320267.9	-	0	2361				LRMP_ENST00000548766.1_Missense_Mutation_p.P411T|LRMP_ENST00000354454.3_Missense_Mutation_p.P411T|LRMP_ENST00000547044.1_Missense_Mutation_p.P411T	NM_001082973.1	NP_001076442	Q6TDU7	CASC1_HUMAN	cancer susceptibility candidate 1											breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(3)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31	Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Melanoma(3;0.0301)|Colorectal(261;0.11)		OV - Ovarian serous cystadenocarcinoma(3;7.42e-20)|Epithelial(3;7.58e-16)|all cancers(3;1.07e-13)			GAAAAATAATCCATCAAAGTG	0.373																																						ENST00000354454.3																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	19						c.(1231-1233)Cca>Aca		lymphoid-restricted membrane protein							82	75	77					12																	25259959		2203	4299	6502	SO:0001628	intergenic_variant	4033				vesicle fusion|vesicle targeting	endoplasmic reticulum membrane|integral to plasma membrane		g.chr12:25259959C>A	AK093102	CCDS31759.2, CCDS41762.1, CCDS41763.1, CCDS55810.1, CCDS55811.1	12p12.1	2012-04-17			ENSG00000118307	ENSG00000118307		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	29599	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 54"					14583591	Standard	NM_018272		Approved	LAS1, FLJ10921, PPP1R54	uc001rgk.3	Q6TDU7	OTTHUMG00000150195		12.37:g.25259959C>A						LRMP_ENST00000548766.1_Missense_Mutation_p.P411T|LRMP_ENST00000547044.1_Missense_Mutation_p.P411T	p.P411T	NM_006152.3	NP_006143.2	Q12912	LRMP_HUMAN			20	2060	+	Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Colorectal(261;0.11)		467					B4DNP2|F5H6T6|Q17RL2|Q4G171|Q5U5K5|Q9NV50	Missense_Mutation	SNP	ENST00000320267.9	37	c.1231C>A	CCDS41762.1	.	.	.	.	.	.	.	.	.	.	C	3.773	-0.047310	0.07407	.	.	ENSG00000118308	ENST00000354454;ENST00000536173;ENST00000548766;ENST00000547044	T;T;T;T	0.10477	2.87;2.87;2.87;2.87	5.56	2.68	0.31781	.	1.153860	0.06326	N	0.705380	T	0.08758	0.0217	L	0.35723	1.085	0.09310	N	1	P	0.39352	0.669	B	0.38106	0.265	T	0.31475	-0.9942	10	0.11182	T	0.66	-1.9062	5.162	0.15066	0.15:0.6266:0.1445:0.0789	.	467	Q12912	LRMP_HUMAN	T	411;358;411;411	ENSP00000346442:P411T;ENSP00000444056:P358T;ENSP00000446496:P411T;ENSP00000450246:P411T	ENSP00000346442:P411T	P	+	1	0	LRMP	25151226	0.000000	0.05858	0.001000	0.08648	0.006000	0.05464	0.362000	0.20284	0.266000	0.21894	0.585000	0.79938	CCA		0.373	CASC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000316761.1	NM_018272		13	22	1	0	2.31682e-05	1	2.50673e-05	13	22					A	25259959	C	A	25259959	1	1	212	0	1	0	0	0	0	0	0	0	8950	855	30	5		5	LRMP	12	25259959	IGR	SNP	C	TCGA-HC-7738-01A-11D-2114-08		25259959	108591936	42	9779											
MLL2	8085	broad.mit.edu	37	chr12	49416426	49416440	+	In_Frame_Del	DEL	TGCCAATGTACTCGA	TGCCAATGTACTCGA	-																															cacctcgttccgaatgatggTgccaatgtactcgataacca																										TCGA-HC-7738-01A-11D-2114-08	TCGA-HC-7738-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af73b3d5-51db-4b4d-b56a-196c61830450	573b63e8-ecb6-4c86-932a-fd674800d592	g.chr12:49416426_49416440delTGCCAATGTACTCGA	ENST00000301067.7	-	51	16270_16284	c.16271_16285delTCGAGTACATTGGCA	c.(16270-16287)atcgagtacattggcacc>acc	p.IEYIG5424del		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	5424	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.G5428D(1)|p.E5425*(1)|p.G5158D(1)|p.E5155*(1)									CGAATGATGGTGCCAATGTACTCGATAACCATTGT	0.553																																						ENST00000301067.7																			4	Substitution - Missense(2)|Substitution - Nonsense(2)	p.G5428D(1)|p.E5425*(1)|p.G5158D(1)|p.E5155*(1)	lung(2)|endometrium(2)								c.(16270-16287)acc>a		lysine (K)-specific methyltransferase 2D																																				SO:0001651	inframe_deletion	8085							g.chr12:49416426_49416440delTGCCAATGTACTCGA	AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	7133	protein-coding gene	gene with protein product		602113	"trinucleotide repeat containing 21", "myeloid/lymphoid or mixed-lineage leukemia 2"	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.16271_16285delTCGAGTACATTGGCA	12.37:g.49416426_49416440delTGCCAATGTACTCGA	ENSP00000301067:p.Ile5424_Gly5428del						p.IEYIGT5424del	NM_003482.3	NP_003473.3					51	16270_16284	-								O14687	In_Frame_Del	DEL	ENST00000301067.7	37	c.16271_16285delTCGAGTACATTGGCA	CCDS44873.1																																																																																				0.553	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2			41	343						41	343	---	---	---	---	-	49416440	TGCCAATGTACTCGA	-	49416426	7	5	212	1	0	1	0	1	0	0	0	0	9621	1696	59	0	344	0	MLL2	12	49416426	In_Frame_Del	DEL	TGCCAATGTACTCGA	TCGA-HC-7738-01A-11D-2114-08	24156467	49416426	84435469	43	9780											
METAP2	10988	broad.mit.edu	37	chr12	95888909	95888909	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aatagactttggaacacataTaagtggtaaattcttgcaga	16	12	8	5	0	1	2	0	0	1	2	1	3	1	3	0	2	2	2	0	2	7	7			TCGA-HC-7738-01A-11D-2114-08	TCGA-HC-7738-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af73b3d5-51db-4b4d-b56a-196c61830450	573b63e8-ecb6-4c86-932a-fd674800d592	g.chr12:95888909T>C	ENST00000323666.5	+	6	996	c.767T>C	c.(766-768)aTa>aCa	p.I256T	METAP2_ENST00000261220.9_Missense_Mutation_p.I233T|METAP2_ENST00000546753.1_Missense_Mutation_p.I233T|METAP2_ENST00000550777.1_Missense_Mutation_p.I220T|METAP2_ENST00000551840.1_Missense_Mutation_p.I255T	NM_006838.3	NP_006829.1			methionyl aminopeptidase 2											endometrium(3)|large_intestine(2)|lung(7)|prostate(1)	13						GGAACACATATAAGTGGTAAA	0.373																																						ENST00000323666.5																			0				endometrium(3)|large_intestine(2)|lung(7)|prostate(1)	13						c.(766-768)aTa>aCa		methionyl aminopeptidase 2	L-Methionine(DB00134)						68	65	66					12																	95888909		2203	4300	6503	SO:0001583	missense	10988				N-terminal protein amino acid modification|peptidyl-methionine modification|protein processing|proteolysis	cytoplasm	aminopeptidase activity|metal ion binding|metalloexopeptidase activity	g.chr12:95888909T>C	U13261	CCDS9052.1	12q22	2014-09-04			ENSG00000111142		3.4.11.18		16672	protein-coding gene	gene with protein product	"Peptidase M"	601870				7644482, 8858118	Standard	NM_006838		Approved	MNPEP, p67, MAP2	uc001tec.3	P50579	OTTHUMG00000170280	ENST00000323666.5:c.767T>C	12.37:g.95888909T>C	ENSP00000325312:p.Ile256Thr					METAP2_ENST00000551840.1_Missense_Mutation_p.I255T|METAP2_ENST00000550777.1_Missense_Mutation_p.I220T|METAP2_ENST00000546753.1_Missense_Mutation_p.I233T|METAP2_ENST00000261220.9_Missense_Mutation_p.I233T	p.I256T	NM_006838.3	NP_006829.1	P50579	AMPM2_HUMAN			6	996	+			256						Missense_Mutation	SNP	ENST00000323666.5	37	c.767T>C	CCDS9052.1	.	.	.	.	.	.	.	.	.	.	T	23.4	4.413555	0.83449	.	.	ENSG00000111142	ENST00000323666;ENST00000546753;ENST00000261220;ENST00000550777;ENST00000551840;ENST00000549808	T;T;T;T;T;T	0.77877	-1.13;-1.13;-1.13;-1.13;-1.13;-1.13	5.4	5.4	0.78164	Peptidase M24, structural domain (3);	0.000000	0.85682	D	0.000000	D	0.90659	0.7070	M	0.93854	3.465	0.80722	D	1	D;D;P;D;D	0.69078	0.973;0.997;0.487;0.976;0.967	D;D;P;D;D	0.71184	0.971;0.972;0.796;0.918;0.921	D	0.93115	0.6520	10	0.87932	D	0	-13.1593	15.409	0.74902	0.0:0.0:0.0:1.0	.	233;220;233;255;256	B4DUX5;F8VRR3;G3XA91;F8VQZ7;P50579	.;.;.;.;AMPM2_HUMAN	T	256;233;233;220;255;158	ENSP00000325312:I256T;ENSP00000448169:I233T;ENSP00000261220:I233T;ENSP00000448614:I220T;ENSP00000450063:I255T;ENSP00000447661:I158T	ENSP00000261220:I233T	I	+	2	0	METAP2	94413040	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	7.655000	0.83696	2.035000	0.60131	0.482000	0.46254	ATA		0.373	METAP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000408296.1	NM_006838		17	48	0	0	0	1	0	17	48					C	95888909	T	C	95888909	3	2	212	1	0	0	0	0	1	0	0	0	9487	1406	49	4	789	4	METAP2	12	95888909	Missense_Mutation	SNP	T	TCGA-HC-7738-01A-11D-2114-08	46472483	95888909	37962986	44	9781											
DAO	1610	broad.mit.edu	37	chr12	109286790	109286790	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gggagtgaagttcttccagcGgaaagtggagtcttttgagg	9	11	16	5	1	2	2	0	2	2	0	3	5	3	5	1	4	1	1	1	4	2	4			TCGA-HC-7738-01A-11D-2114-08	TCGA-HC-7738-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af73b3d5-51db-4b4d-b56a-196c61830450	573b63e8-ecb6-4c86-932a-fd674800d592	g.chr12:109286790G>A	ENST00000228476.3	+	6	689	c.485G>A	c.(484-486)cGg>cAg	p.R162Q	DAO_ENST00000551281.1_Intron	NM_001917.4	NP_001908.3	P14920	OXDA_HUMAN	D-amino-acid oxidase	162					cellular nitrogen compound metabolic process (GO:0034641)|D-alanine catabolic process (GO:0055130)|D-serine catabolic process (GO:0036088)|D-serine metabolic process (GO:0070178)|dopamine biosynthetic process (GO:0042416)|glyoxylate metabolic process (GO:0046487)|leucine metabolic process (GO:0006551)|proline catabolic process (GO:0006562)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	cofactor binding (GO:0048037)|D-amino-acid oxidase activity (GO:0003884)|FAD binding (GO:0071949)|protein dimerization activity (GO:0046983)|receptor binding (GO:0005102)			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|prostate(2)|skin(1)	26					Flavin adenine dinucleotide(DB03147)	TTCTTCCAGCGGAAAGTGGAG	0.562																																						ENST00000228476.3																			0				NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|prostate(2)|skin(1)	26						c.(484-486)cGg>cAg		D-amino-acid oxidase							187	151	163					12																	109286790		2203	4300	6503	SO:0001583	missense	1610				glyoxylate metabolic process	peroxisomal matrix	binding|D-amino-acid oxidase activity	g.chr12:109286790G>A	D11370	CCDS9122.1	12q24.11	2013-09-20			ENSG00000110887	ENSG00000110887	1.4.3.3		2671	protein-coding gene	gene with protein product		124050				1356107, 8182053	Standard	NM_001917		Approved	DAMOX	uc001tnr.4	P14920	OTTHUMG00000169360	ENST00000228476.3:c.485G>A	12.37:g.109286790G>A	ENSP00000228476:p.Arg162Gln					DAO_ENST00000551281.1_Intron	p.R162Q	NM_001917.4	NP_001908.3	P14920	OXDA_HUMAN			6	689	+			162					B2R7I5|Q16758|Q8N6R2	Missense_Mutation	SNP	ENST00000228476.3	37	c.485G>A	CCDS9122.1	.	.	.	.	.	.	.	.	.	.	G	16.46	3.129978	0.56721	.	.	ENSG00000110887	ENST00000228476;ENST00000547768;ENST00000547166	T;T;T	0.81415	-1.49;-1.49;-1.49	5.82	1.89	0.25635	FAD dependent oxidoreductase (1);NAD(P)-binding domain (1);	0.392066	0.31936	N	0.006840	T	0.68026	0.2956	L	0.52759	1.655	0.35347	D	0.786972	P	0.45283	0.855	B	0.36186	0.219	T	0.67699	-0.5603	10	0.30078	T	0.28	-16.927	7.0962	0.25311	0.4402:0.0:0.5598:0.0	.	162	P14920	OXDA_HUMAN	Q	162;39;162	ENSP00000228476:R162Q;ENSP00000449967:R39Q;ENSP00000447104:R162Q	ENSP00000228476:R162Q	R	+	2	0	DAO	107810919	0.238000	0.23825	0.957000	0.39632	0.988000	0.76386	0.310000	0.19356	0.344000	0.23847	0.591000	0.81541	CGG		0.562	DAO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403682.1			14	35	0	0	0	1	0	14	35					A	109286790	G	A	109286790	3	1	212	1	0	0	0	0	1	0	0	0	4231	1116	39	2	503	2	DAO	12	109286790	Missense_Mutation	SNP	G	TCGA-HC-7738-01A-11D-2114-08	13397881	109286790	24565105	45	9782											
TBX3	6926	broad.mit.edu	37	chr12	115109860	115109860	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tggcggccagggcggcgactTtgccgtccaggggccccgcg	3	5	18	15	6	0	0	0	0	0	0	1	1	1	0	5	6	1	0	5	6	0	1			TCGA-HC-7738-01A-11D-2114-08	TCGA-HC-7738-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af73b3d5-51db-4b4d-b56a-196c61830450	573b63e8-ecb6-4c86-932a-fd674800d592	g.chr12:115109860T>C	ENST00000257566.3	-	8	2407	c.2018A>G	c.(2017-2019)aAa>aGa	p.K673R	TBX3_ENST00000349155.2_Missense_Mutation_p.K653R	NM_016569.3	NP_057653.3	O15119	TBX3_HUMAN	T-box 3	673	Transcription repression.				anterior/posterior axis specification, embryo (GO:0008595)|atrioventricular bundle cell differentiation (GO:0003167)|blood vessel development (GO:0001568)|branching involved in mammary gland duct morphogenesis (GO:0060444)|cardiac muscle cell fate commitment (GO:0060923)|cell aging (GO:0007569)|cellular senescence (GO:0090398)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|female genitalia development (GO:0030540)|follicle-stimulating hormone secretion (GO:0046884)|forelimb morphogenesis (GO:0035136)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|limbic system development (GO:0021761)|luteinizing hormone secretion (GO:0032275)|male genitalia development (GO:0030539)|mammary gland development (GO:0030879)|mammary placode formation (GO:0060596)|mesoderm morphogenesis (GO:0048332)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epithelial cell differentiation (GO:0030857)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|organ morphogenesis (GO:0009887)|outflow tract morphogenesis (GO:0003151)|palate development (GO:0060021)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell proliferation (GO:0008284)|positive regulation of stem cell proliferation (GO:2000648)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|sinoatrial node cell development (GO:0060931)|skeletal system development (GO:0001501)|specification of organ position (GO:0010159)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)|ventricular septum morphogenesis (GO:0060412)	nucleus (GO:0005634)	RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(5)|endometrium(1)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0574)		GGCGGCGACTTTGCCGTCCAG	0.716																																						ENST00000349155.2																			0				breast(5)|endometrium(1)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						c.(1957-1959)aAa>aGa		T-box 3							8	9	9					12																	115109860		2114	4124	6238	SO:0001583	missense	6926				anterior/posterior axis specification, embryo|anti-apoptosis|cell aging|embryonic arm morphogenesis|embryonic digit morphogenesis|female genitalia development|follicle-stimulating hormone secretion|luteinizing hormone secretion|male genitalia development|mesoderm morphogenesis|negative regulation of myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle|positive regulation of cell proliferation|regulation of transcription from RNA polymerase II promoter|skeletal system development	nucleus	sequence-specific DNA binding	g.chr12:115109860T>C	BC025258	CCDS9175.1, CCDS9176.1	12q24.21	2013-09-05	2008-07-31		ENSG00000135111	ENSG00000135111		"T-boxes"	11602	protein-coding gene	gene with protein product		601621	"ulnar mammary syndrome"	UMS		8988164	Standard	NM_005996		Approved	TBX3-ISO, XHL	uc001tvt.1	O15119	OTTHUMG00000169586	ENST00000257566.3:c.2018A>G	12.37:g.115109860T>C	ENSP00000257566:p.Lys673Arg					TBX3_ENST00000257566.3_Missense_Mutation_p.K673R	p.K653R	NM_005996.3	NP_005987.3	O15119	TBX3_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.0574)	7	2921	-	Medulloblastoma(191;0.163)|all_neural(191;0.178)		673			Transcription repression.		Q8TB20|Q9UKF8	Missense_Mutation	SNP	ENST00000257566.3	37	c.1958A>G	CCDS9176.1	.	.	.	.	.	.	.	.	.	.	T	12.57	1.977516	0.34848	.	.	ENSG00000135111	ENST00000349155;ENST00000257566	D;D	0.88664	-2.4;-2.41	4.93	4.93	0.64822	.	2.540680	0.00945	N	0.002898	D	0.92371	0.7579	L	0.33485	1.01	0.49389	D	0.999787	B;D	0.63880	0.328;0.993	B;D	0.70935	0.124;0.971	T	0.80582	-0.1318	10	0.30078	T	0.28	.	13.7594	0.62956	0.0:0.0:0.0:1.0	.	653;673	O15119-2;O15119	.;TBX3_HUMAN	R	653;673	ENSP00000257567:K653R;ENSP00000257566:K673R	ENSP00000257566:K673R	K	-	2	0	TBX3	113594243	1.000000	0.71417	0.993000	0.49108	0.354000	0.29330	4.438000	0.59961	1.856000	0.53863	0.533000	0.62120	AAA		0.716	TBX3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000404947.2	NM_016569, NM_005996		3	4	0	0	0	1	0	3	4					C	115109860	T	C	115109860	3	2	212	1	0	0	0	0	1	0	0	0	15656	1841	64	4	217	4	TBX3	12	115109860	Missense_Mutation	SNP	T	TCGA-HC-7738-01A-11D-2114-08	5823070	115109860	18742035	46	9783											
ULK3	25989	broad.mit.edu	37	chr15	75134439	75134439	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attgctgcatgaagacacgcGccaccttctcaggcagaatc	11	8	9	13	2	1	3	1	1	1	2	3	3	1	3	2	1	2	3	2	1	2	2			TCGA-HC-7738-01A-11D-2114-08	TCGA-HC-7738-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af73b3d5-51db-4b4d-b56a-196c61830450	573b63e8-ecb6-4c86-932a-fd674800d592	g.chr15:75134439G>A	ENST00000440863.2	-	3	432	c.341C>T	c.(340-342)gCg>gTg	p.A114V	ULK3_ENST00000568667.1_Missense_Mutation_p.A125V|ULK3_ENST00000569437.1_Missense_Mutation_p.A114V	NM_001099436.1	NP_001092906	Q6PHR2	ULK3_HUMAN	unc-51 like kinase 3	114	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				autophagic vacuole assembly (GO:0000045)|autophagy (GO:0006914)|cellular senescence (GO:0090398)|negative regulation of smoothened signaling pathway (GO:0045879)|positive regulation of smoothened signaling pathway (GO:0045880)|protein autophosphorylation (GO:0046777)|regulation of autophagy (GO:0010506)	ATG1/UKL1 signaling complex (GO:0034273)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|pre-autophagosomal structure (GO:0000407)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)	2						GAAGACACGCGCCACCTTCTC	0.572																																						ENST00000440863.2																			0				breast(2)	2						c.(340-342)gCg>gTg		unc-51 like kinase 3							117	125	122					15																	75134439		2114	4233	6347	SO:0001583	missense	25989					cytoplasm	ATP binding|protein serine/threonine kinase activity	g.chr15:75134439G>A	BC048289		15q24.1	2013-07-02	2013-07-02			ENSG00000140474			19703	protein-coding gene	gene with protein product		613472	"unc-51-like kinase 3 (C. elegans)"				Standard	XM_005254289		Approved	DKFZP434C131, FLJ90566	uc010bkf.1	Q6PHR2		ENST00000440863.2:c.341C>T	15.37:g.75134439G>A	ENSP00000400312:p.Ala114Val					ULK3_ENST00000569437.1_Missense_Mutation_p.A114V|ULK3_ENST00000568667.1_Missense_Mutation_p.A125V	p.A114V	NM_001099436.1	NP_001092906.1	Q6PHR2	ULK3_HUMAN			3	432	-			114			Protein kinase.		B2RXK3|B4DRQ7|D3DW68|Q9NPN5|Q9UFS4	Missense_Mutation	SNP	ENST00000440863.2	37	c.341C>T	CCDS45305.1	.	.	.	.	.	.	.	.	.	.	G	13.61	2.289945	0.40494	.	.	ENSG00000140474	ENST00000440863;ENST00000418051	T	0.65732	-0.17	5.53	5.53	0.82687	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.112642	0.64402	D	0.000014	T	0.38134	0.1029	N	0.04959	-0.14	0.47819	D	0.99952	B;B;B;B;B	0.29232	0.104;0.238;0.045;0.022;0.048	B;B;B;B;B	0.27380	0.064;0.069;0.061;0.079;0.011	T	0.34004	-0.9846	10	0.20046	T	0.44	-5.4892	11.5269	0.50584	0.0819:0.0:0.9181:0.0	.	24;125;24;114;114	B4DEJ1;B4DFT0;B4DFS6;Q6PHR2;Q6PHR2-3	.;.;.;ULK3_HUMAN;.	V	114;125	ENSP00000400312:A114V	ENSP00000393658:A125V	A	-	2	0	ULK3	72921492	1.000000	0.71417	0.989000	0.46669	0.910000	0.53928	6.287000	0.72671	2.605000	0.88082	0.655000	0.94253	GCG		0.572	ULK3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000421734.4	NM_015518		61	174	0	0	0	1	0	61	174					A	75134439	G	A	75134439	3	1	212	1	0	0	0	0	1	0	0	0	16974	1087	38	1	1133	1	ULK3	15	75134439	Missense_Mutation	SNP	G	TCGA-HC-7738-01A-11D-2114-08		75134439	27396953	47	9784											
ZFHX3	463	broad.mit.edu	37	chr16	72991392	72991392	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaatccgctcatcatgaactGggcgtccgaggcagcactgt	9	8	12	12	3	2	1	2	1	0	0	4	3	4	1	2	2	2	3	2	2	2	0			TCGA-HC-7738-01A-11D-2114-08	TCGA-HC-7738-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af73b3d5-51db-4b4d-b56a-196c61830450	573b63e8-ecb6-4c86-932a-fd674800d592	g.chr16:72991392G>A	ENST00000268489.5	-	2	3325	c.2653C>T	c.(2653-2655)Cag>Tag	p.Q885*	ZFHX3_ENST00000397992.5_Intron	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	885					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|muscle organ development (GO:0007517)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of myoblast differentiation (GO:0045663)|regulation of neuron differentiation (GO:0045664)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	enzyme binding (GO:0019899)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				ATCATGAACTGGGCGTCCGAG	0.597																																						ENST00000268489.5																			0				NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153						c.(2653-2655)Cag>Tag		zinc finger homeobox 3							110	101	104					16																	72991392		2198	4300	6498	SO:0001587	stop_gained	463				muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr16:72991392G>A	D10250	CCDS10908.1, CCDS54035.1	16q22.3	2012-03-09	2007-08-09	2007-08-09	ENSG00000140836	ENSG00000140836		"Zinc fingers, C2H2-type", "Homeoboxes / ZF class"	777	protein-coding gene	gene with protein product		104155	"AT-binding transcription factor 1"	ATBF1		1719379, 7592926	Standard	NM_006885		Approved	ZNF927	uc002fck.3	Q15911	OTTHUMG00000137599	ENST00000268489.5:c.2653C>T	16.37:g.72991392G>A	ENSP00000268489:p.Gln885*					ZFHX3_ENST00000397992.5_Intron	p.Q885*	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN			2	3325	-		Ovarian(137;0.13)	885					D3DWS8|O15101|Q13719	Nonsense_Mutation	SNP	ENST00000268489.5	37	c.2653C>T	CCDS10908.1	.	.	.	.	.	.	.	.	.	.	G	48	14.183919	0.99783	.	.	ENSG00000140836	ENST00000268489	.	.	.	5.52	5.52	0.82312	.	0.288606	0.24717	N	0.036172	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.40728	T	0.16	.	19.4741	0.94979	0.0:0.0:1.0:0.0	.	.	.	.	X	885	.	ENSP00000268489:Q885X	Q	-	1	0	ZFHX3	71548893	1.000000	0.71417	0.998000	0.56505	0.961000	0.63080	9.801000	0.99128	2.595000	0.87683	0.655000	0.94253	CAG		0.597	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269008.1	NM_006885		27	62	0	0	0	1	0	27	62					A	72991392	G	A	72991392	4	1	212	1	0	0	0	0	0	1	0	0	17631	1357	47	3	8494	3	ZFHX3	16	72991392	Nonsense_Mutation	SNP	G	TCGA-HC-7738-01A-11D-2114-08		72991392	17363361	48	9785											
RAB37	326624	broad.mit.edu	37	chr17	72736974	72736974	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaattcaaagacggggcctTcctgtccggaaccttcatag	10	9	9	13	2	2	1	2	0	0	1	4	2	4	2	5	3	1	0	5	3	4	4			TCGA-HC-7738-01A-11D-2114-08	TCGA-HC-7738-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af73b3d5-51db-4b4d-b56a-196c61830450	573b63e8-ecb6-4c86-932a-fd674800d592	g.chr17:72736974T>C	ENST00000392613.5	+	2	217	c.161T>C	c.(160-162)tTc>tCc	p.F54S	RAB37_ENST00000392612.3_Intron|RAB37_ENST00000392614.4_Missense_Mutation_p.F59S|RAB37_ENST00000340415.3_Intron|RAB37_ENST00000392615.5_Intron|RAB37_ENST00000402449.4_Intron|RAB37_ENST00000528438.1_Missense_Mutation_p.F27S|RAB37_ENST00000392610.1_Missense_Mutation_p.F54S	NM_001006638.2	NP_001006639.1	Q96AX2	RAB37_HUMAN	RAB37, member RAS oncogene family	54					protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|secretory granule (GO:0030141)	GTP binding (GO:0005525)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	12						GACGGGGCCTTCCTGTCCGGA	0.577																																						ENST00000392610.1																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	12						c.(160-162)tTc>tCc		RAB37, member RAS oncogene family							132	130	130					17																	72736974		2203	4300	6503	SO:0001583	missense	326624				protein transport|small GTPase mediated signal transduction	ER-Golgi intermediate compartment	GTP binding	g.chr17:72736974T>C	BC040547	CCDS11703.1, CCDS32722.1, CCDS54161.1, CCDS54162.1	17q25.2	2008-02-05			ENSG00000172794	ENSG00000172794		"RAB, member RAS oncogene"	30268	protein-coding gene	gene with protein product		609956				10722846	Standard	NM_175738		Approved		uc002jlk.3	Q96AX2	OTTHUMG00000134282	ENST00000392613.5:c.161T>C	17.37:g.72736974T>C	ENSP00000376389:p.Phe54Ser					RAB37_ENST00000392612.3_Intron|RAB37_ENST00000340415.3_Intron|RAB37_ENST00000402449.4_Intron|RAB37_ENST00000392614.4_Missense_Mutation_p.F59S|RAB37_ENST00000528438.1_Missense_Mutation_p.F27S|RAB37_ENST00000392613.5_Missense_Mutation_p.F54S|RAB37_ENST00000392615.5_Intron	p.F54S			Q96AX2	RAB37_HUMAN			2	202	+			54					A8MXF5|A8MYT0|Q8IWA7	Missense_Mutation	SNP	ENST00000392613.5	37	c.161T>C	CCDS32722.1	.	.	.	.	.	.	.	.	.	.	T	15.21	2.764776	0.49574	.	.	ENSG00000172794	ENST00000528438;ENST00000392614;ENST00000392613;ENST00000533530;ENST00000392610	D;D;D;D	0.87179	-2.22;-2.22;-2.22;-2.22	5.1	4.01	0.46588	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.94335	0.8179	M	0.93328	3.405	0.58432	D	0.999997	D;D	0.89917	1.0;1.0	D;D	0.81914	0.984;0.995	D	0.94061	0.7326	10	0.87932	D	0	.	10.3486	0.43920	0.1474:0.0:0.0:0.8526	.	59;54	A8MYT0;Q96AX2	.;RAB37_HUMAN	S	27;59;54;54;54	ENSP00000432086:F27S;ENSP00000376390:F59S;ENSP00000376389:F54S;ENSP00000376387:F54S	ENSP00000376387:F54S	F	+	2	0	RAB37	70248569	1.000000	0.71417	1.000000	0.80357	0.084000	0.17831	7.520000	0.81821	0.772000	0.33382	-0.496000	0.04628	TTC		0.577	RAB37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258872.2	NM_175738		23	184	0	0	0	1	0	23	184					C	72736974	T	C	72736974	3	2	212	1	0	0	0	0	1	0	0	0	12927	1783	62	4	470	4	RAB37	17	72736974	Missense_Mutation	SNP	T	TCGA-HC-7738-01A-11D-2114-08		72736974	8458236	49	9786											
PTPRS	5802	broad.mit.edu	37	chr19	5220066	5220066	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gccgggatggaacgtgggtgGcagcacagagaagcgagctg	10	4	19	8	3	0	1	0	0	0	1	0	5	0	3	1	4	4	3	1	4	2	0			TCGA-HC-7738-01A-11D-2114-08	TCGA-HC-7738-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af73b3d5-51db-4b4d-b56a-196c61830450	573b63e8-ecb6-4c86-932a-fd674800d592	g.chr19:5220066G>A	ENST00000587303.1	-	21	3748	c.3649C>T	c.(3649-3651)Cca>Tca	p.P1217S	PTPRS_ENST00000588012.1_Missense_Mutation_p.P1195S|PTPRS_ENST00000592099.1_Missense_Mutation_p.P786S|PTPRS_ENST00000348075.2_Missense_Mutation_p.P1195S|PTPRS_ENST00000353284.2_Missense_Mutation_p.P786S|PTPRS_ENST00000357368.4_Missense_Mutation_p.P1217S|PTPRS_ENST00000588552.1_5'UTR|PTPRS_ENST00000262963.6_Missense_Mutation_p.P1213S|PTPRS_ENST00000372412.4_Missense_Mutation_p.P1218S			Q13332	PTPRS_HUMAN	protein tyrosine phosphatase, receptor type, S	1217					cell adhesion (GO:0007155)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|corpus callosum development (GO:0022038)|extracellular matrix organization (GO:0030198)|hippocampus development (GO:0021766)|peptidyl-tyrosine dephosphorylation (GO:0035335)|spinal cord development (GO:0021510)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)	61				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)	Alendronate(DB00630)|Etidronic acid(DB01077)	AACGTGGGTGGCAGCACAGAG	0.647																																						ENST00000372412.4																			0				NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)	61						c.(3652-3654)Cca>Tca		protein tyrosine phosphatase, receptor type, S							49	57	54					19																	5220066		2203	4300	6503	SO:0001583	missense	5802				cell adhesion	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr19:5220066G>A	U35234	CCDS12139.1, CCDS12140.1, CCDS45930.1, CCDS74265.1	19p13.3	2013-02-11				ENSG00000105426		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	9681	protein-coding gene	gene with protein product		601576				8954782, 8524829	Standard	NM_002850		Approved		uc002mbv.3	Q13332		ENST00000587303.1:c.3649C>T	19.37:g.5220066G>A	ENSP00000467537:p.Pro1217Ser					PTPRS_ENST00000353284.2_Missense_Mutation_p.P786S|PTPRS_ENST00000262963.6_Missense_Mutation_p.P1213S|PTPRS_ENST00000587303.1_Missense_Mutation_p.P1217S|PTPRS_ENST00000588552.1_5'UTR|PTPRS_ENST00000357368.4_Missense_Mutation_p.P1217S|PTPRS_ENST00000348075.2_Missense_Mutation_p.P1195S|PTPRS_ENST00000592099.1_Missense_Mutation_p.P786S|PTPRS_ENST00000588012.1_Missense_Mutation_p.P1195S	p.P1218S			Q13332	PTPRS_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)	22	3885	-			1217					O75255|O75870|Q15718|Q16341|Q2M3R7	Missense_Mutation	SNP	ENST00000587303.1	37	c.3652C>T	CCDS45930.1	.	.	.	.	.	.	.	.	.	.	G	19.63	3.864401	0.71949	.	.	ENSG00000105426	ENST00000536396;ENST00000372412;ENST00000357368;ENST00000355005;ENST00000356037;ENST00000262963;ENST00000348075;ENST00000355322;ENST00000544524;ENST00000353284	T;T;T;T;T	0.60040	0.24;0.26;0.33;0.22;0.34	4.07	4.07	0.47477	.	0.000000	0.64402	U	0.000003	T	0.74839	0.3769	M	0.72353	2.195	0.80722	D	1	D;D;D;B;D;D	0.89917	1.0;1.0;1.0;0.367;1.0;1.0	D;D;D;B;D;D	0.97110	1.0;0.991;0.999;0.193;0.999;0.998	T	0.79470	-0.1790	10	0.87932	D	0	.	16.4556	0.84011	0.0:0.0:1.0:0.0	.	799;786;790;1195;1217;812	F8W800;Q13332-7;F5H2T4;Q13332-6;Q13332;Q59FX6	.;.;.;.;PTPRS_HUMAN;.	S	812;1218;1217;1217;1208;1213;1195;799;790;786	ENSP00000361489:P1218S;ENSP00000349932:P1217S;ENSP00000262963:P1213S;ENSP00000269907:P1195S;ENSP00000327313:P786S	ENSP00000262963:P1213S	P	-	1	0	PTPRS	5171066	1.000000	0.71417	0.998000	0.56505	0.352000	0.29268	9.455000	0.97625	2.119000	0.64992	0.655000	0.94253	CCA		0.647	PTPRS-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000450762.2			4	94	0	0	0	1	0	4	94					A	5220066	G	A	5220066	3	1	212	1	0	0	0	0	1	0	0	0	12811	1203	42	3	2265	3	PTPRS	19	5220066	Missense_Mutation	SNP	G	TCGA-HC-7738-01A-11D-2114-08		5220066	53908917	50	9787											
LASS4	79603	broad.mit.edu	37	chr19	8321856	8321856	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ttcaaggagcaggtgatacaCcacttcgtggcggtcatcct	9	10	11	11	2	2	1	2	1	0	0	4	2	3	2	2	4	2	1	2	4	2	3			TCGA-HC-7738-01A-11D-2114-08	TCGA-HC-7738-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af73b3d5-51db-4b4d-b56a-196c61830450	573b63e8-ecb6-4c86-932a-fd674800d592	g.chr19:8321856C>G	ENST00000251363.5	+	9	936	c.636C>G	c.(634-636)caC>caG	p.H212Q	CERS4_ENST00000559450.1_Missense_Mutation_p.H212Q|CERS4_ENST00000558331.1_Missense_Mutation_p.H161Q|CERS4_ENST00000595722.1_3'UTR|CERS4_ENST00000559336.1_Missense_Mutation_p.H212Q	NM_024552.2	NP_078828.2	Q9HA82	CERS4_HUMAN	ceramide synthase 4	212	TLC. {ECO:0000255|PROSITE- ProRule:PRU00205}.				ceramide biosynthetic process (GO:0046513)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sphingosine N-acyltransferase activity (GO:0050291)										AGGTGATACACCACTTCGTGG	0.567																																						ENST00000558331.1																			0											c.(481-483)caC>caG		ceramide synthase 4							268	256	260					19																	8321856		2203	4300	6503	SO:0001583	missense	79603					endoplasmic reticulum membrane|integral to membrane|nuclear membrane	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sphingosine N-acyltransferase activity	g.chr19:8321856C>G		CCDS12197.1	19p13.2	2014-09-11	2011-07-08	2011-07-08	ENSG00000090661	ENSG00000090661		"Homeoboxes / CERS class"	23747	protein-coding gene	gene with protein product		615334	"LAG1 longevity assurance homolog 4 (S. cerevisiae)", "LAG1 homolog, ceramide synthase 4"	LASS4			Standard	NM_024552		Approved	FLJ12089, Trh1	uc002mjg.3	Q9HA82	OTTHUMG00000172570	ENST00000251363.5:c.636C>G	19.37:g.8321856C>G	ENSP00000251363:p.His212Gln					CERS4_ENST00000251363.5_Missense_Mutation_p.H212Q|CERS4_ENST00000559450.1_Missense_Mutation_p.H212Q|CERS4_ENST00000595722.1_3'UTR|CERS4_ENST00000559336.1_Missense_Mutation_p.H212Q	p.H161Q			Q9HA82	CERS4_HUMAN			9	942	+			212			TLC.		D6W665	Missense_Mutation	SNP	ENST00000251363.5	37	c.483C>G	CCDS12197.1	.	.	.	.	.	.	.	.	.	.	C	12.78	2.040125	0.35989	.	.	ENSG00000090661	ENST00000251363	D	0.95622	-3.76	4.92	-2.73	0.05950	TRAM/LAG1/CLN8 homology domain (3);	0.000000	0.85682	D	0.000000	D	0.98005	0.9343	H	0.97491	4.015	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.96656	0.9485	10	0.87932	D	0	-31.6962	10.3149	0.43732	0.0:0.4639:0.0:0.5361	.	212;212	Q53HF9;Q9HA82	.;CERS4_HUMAN	Q	212	ENSP00000251363:H212Q	ENSP00000251363:H212Q	H	+	3	2	CERS4	8227856	0.115000	0.22152	0.362000	0.25862	0.015000	0.08874	-0.628000	0.05515	-0.517000	0.06461	-0.415000	0.06103	CAC		0.567	CERS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419200.1	NM_024552		14	423	0	0	0	1	0	14	423					G	8321856	C	G	8321856	3	3	212	1	0	0	0	0	1	0	0	0	8641	506	18	5	662	5	LASS4	19	8321856	Missense_Mutation	SNP	C	TCGA-HC-7738-01A-11D-2114-08	3101790	8321856	50807127	51	9788											
ZNF878	729747	broad.mit.edu	37	chr19	12155153	12155153	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgtgtcctttcatgtattcGaagatccttgacaaaactga	11	14	8	8	1	1	3	1	2	0	1	4	4	3	3	2	0	1	1	2	0	4	4	rs189074815		TCGA-HC-7738-01A-11D-2114-08	TCGA-HC-7738-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af73b3d5-51db-4b4d-b56a-196c61830450	573b63e8-ecb6-4c86-932a-fd674800d592	g.chr19:12155153G>T	ENST00000547628.1	-	4	1200	c.1063C>A	c.(1063-1065)Cga>Aga	p.R355R	CTD-2006C1.10_ENST00000547473.1_Intron|ZNF878_ENST00000602107.1_Silent_p.R402R|CTD-2006C1.2_ENST00000476474.1_RNA|CTD-2006C1.2_ENST00000591838.1_RNA|CTD-2006C1.2_ENST00000591898.1_RNA	NM_001080404.2	NP_001073873.2	C9JN71	ZN878_HUMAN	zinc finger protein 878	355					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			cervix(1)|endometrium(1)|kidney(1)|lung(4)|urinary_tract(1)	8						TCATGTATTCGAAGATCCTTG	0.383																																						ENST00000602107.1																			0				cervix(1)|endometrium(1)|kidney(1)|lung(4)|urinary_tract(1)	8						c.(1204-1206)Cga>Aga		zinc finger protein 878							46	52	50					19																	12155153		2192	4293	6485	SO:0001819	synonymous_variant	729747				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	g.chr19:12155153G>T		CCDS45984.1, CCDS45984.2	19p13.2	2013-01-08				ENSG00000257446		"Zinc fingers, C2H2-type", "-"	37246	protein-coding gene	gene with protein product							Standard	NM_001080404		Approved		uc021upl.1	C9JN71		ENST00000547628.1:c.1063C>A	19.37:g.12155153G>T						CTD-2006C1.2_ENST00000476474.1_RNA|CTD-2006C1.10_ENST00000547473.1_Intron|ZNF878_ENST00000547628.1_Silent_p.R355R|CTD-2006C1.2_ENST00000591898.1_RNA|CTD-2006C1.2_ENST00000591838.1_RNA	p.R402R			C9JN71	ZN878_HUMAN			5	1203	-			355						Silent	SNP	ENST00000547628.1	37	c.1204C>A	CCDS45984.2																																																																																				0.383	ZNF878-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403723.1	NM_001080404		3	51	1	0	1	1	1	3	51					T	12155153	G	T	12155153	2	4	212	1	0	0	0	0	0	0	0	1	18193	1066	37	5		5	ZNF878	19	12155153	Silent	SNP	G	TCGA-HC-7738-01A-11D-2114-08	3833297	12155153	46973830	52	9789											
AKT2	208	broad.mit.edu	37	chr19	40744879	40744879	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctggaaggcatacttcagcGcctgggggatgaaggcagca	10	7	15	9	1	2	1	1	1	1	0	2	3	2	3	1	5	3	3	1	5	3	2			TCGA-HC-7738-01A-11D-2114-08	TCGA-HC-7738-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af73b3d5-51db-4b4d-b56a-196c61830450	573b63e8-ecb6-4c86-932a-fd674800d592	g.chr19:40744879G>A	ENST00000392038.2	-	8	939	c.641C>T	c.(640-642)gCg>gTg	p.A214V	AKT2_ENST00000424901.1_Splice_Site_p.A214V|AKT2_ENST00000311278.6_Splice_Site_p.A214V|AKT2_ENST00000579047.1_Splice_Site_p.A152V	NM_001243027.1|NM_001243028.1|NM_001626.4	NP_001229956.1|NP_001229957.1|NP_001617.1	P31751	AKT2_HUMAN	v-akt murine thymoma viral oncogene homolog 2	214	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of Ral GTPase activity (GO:0032859)|apoptotic process (GO:0006915)|carbohydrate transport (GO:0008643)|cellular protein modification process (GO:0006464)|cellular response to insulin stimulus (GO:0032869)|fat cell differentiation (GO:0045444)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|insulin receptor signaling pathway (GO:0008286)|intracellular protein transmembrane transport (GO:0065002)|mammary gland epithelial cell differentiation (GO:0060644)|membrane organization (GO:0061024)|negative regulation of plasma membrane long-chain fatty acid transport (GO:0010748)|peripheral nervous system myelin maintenance (GO:0032287)|positive regulation of cell motility (GO:2000147)|positive regulation of fatty acid beta-oxidation (GO:0032000)|positive regulation of glucose import (GO:0046326)|positive regulation of glucose import in response to insulin stimulus (GO:2001275)|positive regulation of glucose metabolic process (GO:0010907)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of vesicle fusion (GO:0031340)|protein localization to plasma membrane (GO:0072659)|regulation of cell cycle arrest (GO:0071156)|regulation of cell migration (GO:0030334)|regulation of translation (GO:0006417)|signal transduction (GO:0007165)	cell cortex (GO:0005938)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|cervix(1)|kidney(3)|large_intestine(9)|lung(10)|prostate(2)|skin(1)	27			Lung(22;0.000499)			ATACTTCAGCGCCTGGGGGAT	0.642			A		"ovarian, pancreatic "																																	ENST00000392038.2				Dom	yes		19	19q13.1-q13.2	208	A	v-akt murine thymoma viral oncogene homolog 2			E			"ovarian, pancreatic "		0				breast(1)|cervix(1)|kidney(3)|large_intestine(9)|lung(10)|prostate(2)|skin(1)	27						c.e8-1		v-akt murine thymoma viral oncogene homolog 2							80	75	77					19																	40744879		2203	4300	6503	SO:0001630	splice_region_variant	208				insulin receptor signaling pathway|negative regulation of plasma membrane long-chain fatty acid transport|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process	cytosol|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr19:40744879G>A	M77198	CCDS12552.1	19q13.1-q13.2	2013-01-10			ENSG00000105221	ENSG00000105221	2.7.11.1	"Pleckstrin homology (PH) domain containing"	392	protein-coding gene	gene with protein product		164731				1409633	Standard	NM_001626		Approved		uc002onf.3	P31751	OTTHUMG00000137375	ENST00000392038.2:c.640-1C>T	19.37:g.40744879G>A						AKT2_ENST00000424901.1_Splice_Site_p.A214_splice|AKT2_ENST00000579047.1_Splice_Site_p.A152_splice|AKT2_ENST00000311278.6_Splice_Site_p.A214_splice	p.A214_splice	NM_001243027.1|NM_001243028.1|NM_001626.4	NP_001229956.1|NP_001229957.1|NP_001617.1	P31751	AKT2_HUMAN	Lung(22;0.000499)		8	939	-			214			Protein kinase.		B2RBD8|Q05BV0|Q0VAN0|Q0VAN1|Q68GC0	Splice_Site	SNP	ENST00000392038.2	37	c.639_splice	CCDS12552.1	.	.	.	.	.	.	.	.	.	.	G	14.21	2.466531	0.43839	.	.	ENSG00000105221	ENST00000392038;ENST00000391844;ENST00000424901;ENST00000311278;ENST00000391845	T;T;T	0.25579	1.79;1.79;1.79	4.96	4.96	0.65561	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.148318	0.64402	D	0.000009	T	0.18045	0.0433	N	0.12746	0.255	0.50632	D	0.99988	B;B;B	0.19817	0.016;0.034;0.039	B;B;B	0.18871	0.004;0.023;0.003	T	0.06127	-1.0844	10	0.66056	D	0.02	.	17.4821	0.87675	0.0:0.0:1.0:0.0	.	152;214;214	B4DG79;Q0VAN0;P31751	.;.;AKT2_HUMAN	V	214;115;214;214;34	ENSP00000375892:A214V;ENSP00000399532:A214V;ENSP00000309428:A214V	ENSP00000309428:A214V	A	-	2	0	AKT2	45436719	1.000000	0.71417	0.962000	0.40283	0.108000	0.19459	6.534000	0.73833	2.731000	0.93534	0.655000	0.94253	GCG		0.642	AKT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268029.1	NM_001626	Missense_Mutation	4	105	0	0	0	1	0	4	105					A	40744879	G	A	40744879	5	1	212	1	0	0	0	0	0	0	1	0	480	1101	38	1	832	1	AKT2	19	40744879	Splice_Site	SNP	G	TCGA-HC-7738-01A-11D-2114-08	28589726	40744879	18384104	53	9790											
NECAB3	63941	broad.mit.edu	37	chr20	32248142	32248142	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agggcttgcagctggctcacCgtctcccgcagcaggaagcg	7	6	14	14	3	2	0	1	0	1	0	3	1	2	1	2	3	4	6	2	3	1	1			TCGA-HC-7738-01A-11D-2114-08	TCGA-HC-7738-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af73b3d5-51db-4b4d-b56a-196c61830450	573b63e8-ecb6-4c86-932a-fd674800d592	g.chr20:32248142C>A	ENST00000246190.6	-	6	502	c.447G>T	c.(445-447)acG>acT	p.T149T	C20orf144_ENST00000375222.3_5'Flank|NECAB3_ENST00000375238.4_Silent_p.T149T|NECAB3_ENST00000606525.1_5'UTR|RP1-63M2.6_ENST00000607224.1_RNA	NM_031232.3	NP_112509.3	Q96P71	NECA3_HUMAN	N-terminal EF-hand calcium binding protein 3	149					protein metabolic process (GO:0019538)|protein secretion (GO:0009306)|regulation of amyloid precursor protein biosynthetic process (GO:0042984)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|Golgi cis cisterna (GO:0000137)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			large_intestine(3)|lung(5)|skin(2)	10						GCTGGCTCACCGTCTCCCGCA	0.647																																						ENST00000246190.6																			0				large_intestine(3)|lung(5)|skin(2)	10						c.(445-447)acG>acT		N-terminal EF-hand calcium binding protein 3							49	54	53					20																	32248142		2059	4215	6274	SO:0001819	synonymous_variant	63941				antibiotic biosynthetic process|protein metabolic process|protein secretion|regulation of amyloid precursor protein biosynthetic process	endoplasmic reticulum membrane|Golgi cis cisterna|nucleus	calcium ion binding|oxidoreductase activity|protein binding	g.chr20:32248142C>A	AB039947	CCDS42866.1, CCDS42867.1	20q11.21	2013-01-10	2007-12-06	2007-12-06	ENSG00000125967	ENSG00000125967		"N-terminal EF-hand calcium binding proteins", "EF-hand domain containing"	15851	protein-coding gene	gene with protein product	"EF-hand calcium binding protein 3"	612478	"amyloid beta (A4) precursor protein-binding, family A, member 2 binding protein"	SYTIP2, APBA2BP		10833507	Standard	NM_031232		Approved	XB51, dJ63M2.4, NIP1, dJ63M2.5, EFCBP3	uc002wzn.4	Q96P71	OTTHUMG00000032264	ENST00000246190.6:c.447G>T	20.37:g.32248142C>A						NECAB3_ENST00000375238.4_Silent_p.T149T|NECAB3_ENST00000606525.1_5'UTR	p.T149T	NM_031232.3	NP_112509.3	Q96P71	NECA3_HUMAN			6	502	-			149					A8K780|E1P5N2|Q5JWF5|Q5JWF6|Q5JWF7|Q86VV1|Q9H433|Q9H8G8|Q9HBW7|Q9HCQ9	Silent	SNP	ENST00000246190.6	37	c.447G>T	CCDS42866.1																																																																																				0.647	NECAB3-010	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000078724.2			3	67	1	0	0.150653	1	0.155361	3	67					A	32248142	C	A	32248142	2	1	212	1	0	0	0	0	0	0	0	1	10306	639	23	5		5	NECAB3	20	32248142	Silent	SNP	C	TCGA-HC-7738-01A-11D-2114-08		32248142	30777378	54	9791											
GNAS	2778	broad.mit.edu	37	chr20	57415297	57415297	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgcgctcctccgcgcccttGccacctccaacgcccgtgcc	3	7	8	23	6	0	0	0	0	0	0	4	0	3	0	8	0	3	1	8	0	1	1	rs557714686		TCGA-HC-7738-01A-11D-2114-08	TCGA-HC-7738-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af73b3d5-51db-4b4d-b56a-196c61830450	573b63e8-ecb6-4c86-932a-fd674800d592	g.chr20:57415297G>T	ENST00000313949.7	+	1	525	c.136G>T	c.(136-138)Gcc>Tcc	p.A46S	GNAS-AS1_ENST00000424094.2_RNA|GNAS_ENST00000371075.3_Missense_Mutation_p.A46S|GNAS-AS1_ENST00000598163.1_RNA|GNAS_ENST00000371098.2_Missense_Mutation_p.A46S|GNAS-AS1_ENST00000443966.1_RNA			P63092	GNAS2_HUMAN	GNAS complex locus	0					activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-activating adrenergic receptor signaling pathway (GO:0071880)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|blood coagulation (GO:0007596)|bone development (GO:0060348)|cAMP biosynthetic process (GO:0006171)|cellular response to catecholamine stimulus (GO:0071870)|cellular response to glucagon stimulus (GO:0071377)|cellular response to prostaglandin E stimulus (GO:0071380)|cognition (GO:0050890)|developmental growth (GO:0048589)|energy reserve metabolic process (GO:0006112)|hair follicle placode formation (GO:0060789)|intracellular transport (GO:0046907)|platelet aggregation (GO:0070527)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of Ras GTPase activity (GO:0032320)|regulation of insulin secretion (GO:0050796)|sensory perception of smell (GO:0007608)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|intrinsic component of membrane (GO:0031224)|membrane (GO:0016020)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)	adenylate cyclase activity (GO:0004016)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)			adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1)	441	all_lung(29;0.0104)		BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)			CCGCGCCCTTGCCACCTCCAA	0.697			Mis		pituitary adenoma		"McCune-Albright syndrome; pseudohypoparathyroidism, type IA"			TSP Lung(22;0.16)																											Colon(117;935 1597 6045 8307 46442)	ENST00000313949.7				Dom	yes		20	20q13.2	2778	Mis	"guanine nucleotide binding protein (G protein), alpha stimulating activity polypeptide 1"	yes	"McCune-Albright syndrome; pseudohypoparathyroidism, type IA"	E			pituitary adenoma		0				adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1)	441						c.(136-138)Gcc>Tcc		GNAS complex locus							23	29	27					20																	57415297		2199	4287	6486	SO:0001583	missense	2778				activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport	heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane	adenylate cyclase activity|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity	g.chr20:57415297G>T	M21142	CCDS13471.1, CCDS13472.1, CCDS42892.1, CCDS46622.1, CCDS46623.1, CCDS46624.1	20q13.2-q13.3	2010-03-01	2001-12-19	2001-12-20	ENSG00000087460	ENSG00000087460			4392	protein-coding gene	gene with protein product	"secretogranin VI"	139320	"guanine nucleotide binding protein (G protein), alpha stimulating activity polypeptide 1"	GNAS1			Standard	NM_000516		Approved	NESP55, NESP, GNASXL, GPSA, SCG6	uc002xzw.3	O95467	OTTHUMG00000033069	ENST00000313949.7:c.136G>T	20.37:g.57415297G>T	ENSP00000323571:p.Ala46Ser	TSP Lung(22;0.16)				GNAS-AS1_ENST00000443966.1_RNA|GNAS_ENST00000371098.2_Missense_Mutation_p.A46S|GNAS_ENST00000371075.3_Missense_Mutation_p.A46S|GNAS-AS1_ENST00000598163.1_RNA|GNAS-AS1_ENST00000424094.2_RNA	p.A46S			P63092	GNAS2_HUMAN	BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)		1	525	+	all_lung(29;0.0104)		0					A6NI00|E1P5G5|P04895|Q12927|Q14433|Q32P26|Q5JWD2|Q5JWD4|Q5JWD5|Q6NR75|Q6NXS0|Q8TBC0|Q96H70	Missense_Mutation	SNP	ENST00000313949.7	37	c.136G>T	CCDS13471.1	.	.	.	.	.	.	.	.	.	.	G	17.37	3.371518	0.61624	.	.	ENSG00000087460	ENST00000313949;ENST00000371098;ENST00000371075	.	.	.	3.72	3.72	0.42706	.	.	.	.	.	T	0.60766	0.2294	N	0.24115	0.695	0.80722	D	1	D	0.76494	0.999	D	0.81914	0.995	T	0.62821	-0.6773	8	0.59425	D	0.04	.	11.3015	0.49309	0.0:0.0:1.0:0.0	.	46	O95467	GNAS3_HUMAN	S	46	.	ENSP00000323571:A46S	A	+	1	0	GNAS	56848692	0.995000	0.38212	0.943000	0.38184	0.987000	0.75469	3.731000	0.55013	2.390000	0.81377	0.460000	0.39030	GCC		0.697	GNAS-002	KNOWN	NMD_exception|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000080418.7	NM_000516		3	45	1	0	1	1	1	3	45					T	57415297	G	T	57415297	3	4	212	1	0	0	0	0	1	0	0	0	6510	1319	46	5	138	5	GNAS	20	57415297	Missense_Mutation	SNP	G	TCGA-HC-7738-01A-11D-2114-08	25167155	57415297	5610223	55	9792											
BAGE2	85319	broad.mit.edu	37	chr21	11049592	11049592	+	RNA	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	taagaggtctcccgggctgtCgcacactgcacagtttgcat	8	10	11	12	2	1	1	0	0	1	1	3	1	1	1	1	2	2	5	1	2	1	2	rs3906134	byFrequency	TCGA-HC-7738-01A-11D-2114-08	TCGA-HC-7738-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af73b3d5-51db-4b4d-b56a-196c61830450	573b63e8-ecb6-4c86-932a-fd674800d592	g.chr21:11049592C>T	ENST00000470054.1	-	0	516							Q86Y30	BAGE2_HUMAN	B melanoma antigen family, member 2							extracellular region (GO:0005576)								Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		CCCGGGCTGTCGCACACTGCA	0.388																																						ENST00000470054.1																			0													B melanoma antigen family, member 2							72	57	62					21																	11049592		692	1591	2283			85319							g.chr21:11049592C>T	AF218570		21p	2009-03-13			ENSG00000187172	ENSG00000187172			15723	protein-coding gene	gene with protein product	"cancer/testis antigen family 2, member 2"					12461691	Standard	NM_182482		Approved	CT2.2		Q86Y30	OTTHUMG00000074128		21.37:g.11049592C>T												Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	0	516	-								A8K925|Q08ER0	RNA	SNP	ENST00000470054.1	37																																																																																						0.388	BAGE2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000157417.3	NM_182482		20	184	0	0	0	1	0	20	184					T	11049592	C	T	11049592	1	4	212	0	1	0	0	0	0	0	0	0	1292	871	31	2		2	BAGE2	21	11049592	RNA	SNP	C	TCGA-HC-7738-01A-11D-2114-08		11049592	37080303	56	9793											
BAGE2	85319	broad.mit.edu	37	chr21	11058316	11058316	+	RNA	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctccaaagtgcttacaaaatGcacatcgctgaaaggggtaa	15	8	9	9	1	0	1	0	1	0	0	2	1	1	1	1	2	3	4	1	2	6	2	rs3877860		TCGA-HC-7738-01A-11D-2114-08	TCGA-HC-7738-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af73b3d5-51db-4b4d-b56a-196c61830450	573b63e8-ecb6-4c86-932a-fd674800d592	g.chr21:11058316G>T	ENST00000470054.1	-	0	331							Q86Y30	BAGE2_HUMAN	B melanoma antigen family, member 2							extracellular region (GO:0005576)								Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		CTTACAAAATGCACATCGCTG	0.388																																						ENST00000470054.1																			0													B melanoma antigen family, member 2																																						85319							g.chr21:11058316G>T	AF218570		21p	2009-03-13			ENSG00000187172	ENSG00000187172			15723	protein-coding gene	gene with protein product	"cancer/testis antigen family 2, member 2"					12461691	Standard	NM_182482		Approved	CT2.2		Q86Y30	OTTHUMG00000074128		21.37:g.11058316G>T												Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	0	331	-								A8K925|Q08ER0	RNA	SNP	ENST00000470054.1	37																																																																																						0.388	BAGE2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000157417.3	NM_182482		8	211	1	0	0.00448238	1	0.00469583	8	211					T	11058316	G	T	11058316	1	4	212	0	1	0	0	0	0	0	0	0	1292	1319	46	5		5	BAGE2	21	11058316	RNA	SNP	G	TCGA-HC-7738-01A-11D-2114-08	8724	11058316	37071579	57	9794											
IRS4	8471	broad.mit.edu	37	chrX	107977190	107977191	+	Frame_Shift_Del	DEL	AT	AT	-																															gaggaagagccaccctgaggAtttctggggttttttggaat																										TCGA-HC-7738-01A-11D-2114-08	TCGA-HC-7738-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af73b3d5-51db-4b4d-b56a-196c61830450	573b63e8-ecb6-4c86-932a-fd674800d592	g.chrX:107977190_107977191delAT	ENST00000372129.2	-	1	2460_2461	c.2384_2385delAT	c.(2383-2385)aatfs	p.N795fs	RP6-24A23.3_ENST00000608811.1_RNA|RP6-24A23.3_ENST00000436013.1_RNA|RP6-24A23.6_ENST00000563887.1_5'Flank	NM_003604.2	NP_003595.1	O14654	IRS4_HUMAN	insulin receptor substrate 4	795	CRK-binding.				positive regulation of signal transduction (GO:0009967)|signal transduction (GO:0007165)	plasma membrane (GO:0005886)	SH3/SH2 adaptor activity (GO:0005070)|signal transducer activity (GO:0004871)			NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						CACCCTGAGGATTTCTGGGGTT	0.465																																						ENST00000372129.2																			0				NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						c.(2383-2385)afs		insulin receptor substrate 4																																				SO:0001589	frameshift_variant	8471					plasma membrane	insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity	g.chrX:107977190_107977191delAT	AF007567	CCDS14544.1	Xq22.3	2008-08-01			ENSG00000133124	ENSG00000133124			6128	protein-coding gene	gene with protein product		300904				9261155, 9553137	Standard	NM_003604		Approved	PY160, IRS-4	uc004eoc.2	O14654	OTTHUMG00000022181	ENST00000372129.2:c.2384_2385delAT	X.37:g.107977190_107977191delAT	ENSP00000361202:p.Asn795fs						p.N795fs	NM_003604.2	NP_003595.1	O14654	IRS4_HUMAN			1	2460_2461	-			795			CRK-binding.			Frame_Shift_Del	DEL	ENST00000372129.2	37	c.2384_2385delAT	CCDS14544.1																																																																																				0.465	IRS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057879.1	NM_003604		20	101						20	101	---	---	---	---	-	107977191	AT	-	107977190	7	5	212	1	0	1	0	1	0	0	0	0	7842	330	12	0	1392	0	IRS4	23	107977190	Frame_Shift_Del	DEL	AT	TCGA-HC-7738-01A-11D-2114-08		107977190	47293370	58	9795											
SPEN	23013	broad.mit.edu	37	chr1	16262301	16262301	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgagtaccgactgcacccctAtactgtgccacgggatgtga	9	9	11	12	2	0	2	0	2	0	0	0	4	0	3	4	1	4	2	4	1	3	3			TCGA-HC-7740-01A-11D-2114-08	TCGA-HC-7740-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7303f9fe-88bb-48ba-b9b4-ebf9e4770c1c	9db864a0-450d-4ef4-83ff-1a869ab80803	g.chr1:16262301A>G	ENST00000375759.3	+	11	9770	c.9566A>G	c.(9565-9567)tAt>tGt	p.Y3189C		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	3189					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription, DNA-templated (GO:0045893)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription corepressor activity (GO:0003714)			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		CTGCACCCCTATACTGTGCCA	0.607																																						ENST00000375759.3																			0				NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149						c.(9565-9567)tAt>tGt		spen family transcriptional repressor							72	65	68					1																	16262301		2203	4300	6503	SO:0001583	missense	23013				interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding	g.chr1:16262301A>G		CCDS164.1	1p36	2013-10-17	2013-10-17		ENSG00000065526	ENSG00000065526		"RNA binding motif (RRM) containing"	17575	protein-coding gene	gene with protein product		613484	"SPEN homolog, transcriptional regulator (Drosophila)", "spen homolog, transcriptional regulator (Drosophila)"			10451362, 11331609	Standard	NM_015001		Approved	KIAA0929, MINT, SHARP, RBM15C	uc001axk.1	Q96T58	OTTHUMG00000009376	ENST00000375759.3:c.9566A>G	1.37:g.16262301A>G	ENSP00000364912:p.Tyr3189Cys						p.Y3189C	NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)	11	9770	+		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)	3189					Q9H9A8|Q9NWH5|Q9UQ01|Q9Y556	Missense_Mutation	SNP	ENST00000375759.3	37	c.9566A>G	CCDS164.1	.	.	.	.	.	.	.	.	.	.	A	10.42	1.345465	0.24426	.	.	ENSG00000065526	ENST00000375759	T	0.09538	2.97	5.07	5.07	0.68467	.	.	.	.	.	T	0.27933	0.0688	L	0.60455	1.87	0.42212	D	0.991814	D	0.76494	0.999	D	0.71414	0.973	T	0.01245	-1.1407	9	0.37606	T	0.19	-8.6994	14.8231	0.70087	1.0:0.0:0.0:0.0	.	3189	Q96T58	MINT_HUMAN	C	3189	ENSP00000364912:Y3189C	ENSP00000364912:Y3189C	Y	+	2	0	SPEN	16134888	1.000000	0.71417	0.952000	0.39060	0.342000	0.28953	3.131000	0.50515	1.898000	0.54952	0.482000	0.46254	TAT		0.607	SPEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025993.1	NM_015001		11	87	0	0	0	1	0	11	87					G	16262301	A	G	16262301	3	3	213	1	0	0	0	0	1	0	0	0	15037	449	16	4	9608	4	SPEN	1	16262301	Missense_Mutation	SNP	A	TCGA-HC-7740-01A-11D-2114-08		16262301	232988320	1	9796											
MYOM3	127294	broad.mit.edu	37	chr1	24419567	24419567	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tggcggtctgtgtagaggatCttccgacgtctcgaggacct	6	11	14	10	4	3	1	0	0	3	1	5	5	4	3	2	4	0	1	2	4	1	2			TCGA-HC-7740-01A-11D-2114-08	TCGA-HC-7740-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7303f9fe-88bb-48ba-b9b4-ebf9e4770c1c	9db864a0-450d-4ef4-83ff-1a869ab80803	g.chr1:24419567C>T	ENST00000374434.3	-	10	1122	c.960G>A	c.(958-960)aaG>aaA	p.K320K	MYOM3_ENST00000330966.7_Silent_p.K321K|MYOM3_ENST00000329601.7_Silent_p.K320K|MYOM3_ENST00000475306.1_5'UTR	NM_152372.3	NP_689585.3	Q5VTT5	MYOM3_HUMAN	myomesin 3	320	Ig-like C2-type 2.					M band (GO:0031430)	protein homodimerization activity (GO:0042803)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	68		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)		TGTAGAGGATCTTCCGACGTC	0.627																																						ENST00000330966.7																			0				NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	68						c.(961-963)aaG>aaA		myomesin 3							53	59	57					1																	24419567		1949	4127	6076	SO:0001819	synonymous_variant	127294							g.chr1:24419567C>T	AK093280	CCDS41281.1	1p36	2013-02-11	2012-10-17		ENSG00000142661	ENSG00000142661		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	26679	protein-coding gene	gene with protein product			"myomesin family, member 3"			18177667	Standard	NM_152372		Approved	FLJ35961	uc001bin.4	Q5VTT5	OTTHUMG00000002969	ENST00000374434.3:c.960G>A	1.37:g.24419567C>T						MYOM3_ENST00000374434.3_Silent_p.K320K|MYOM3_ENST00000475306.1_5'UTR|MYOM3_ENST00000329601.7_Silent_p.K320K	p.K321K			Q5VTT5	MYOM3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)	10	1125	-		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)	320			Ig-like C2-type 2.		A6NF75|Q5VTT6|Q6AWC0|Q6AWC1|Q6NXF9|Q6ZRG7|Q7Z3G9|Q8NA11|Q96C54	Silent	SNP	ENST00000374434.3	37	c.963G>A	CCDS41281.1																																																																																				0.627	MYOM3-001	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000008272.2	NM_152372		7	38	0	0	0	1	0	7	38					T	24419567	C	T	24419567	2	4	213	1	0	0	0	0	0	0	0	1	10093	912	32	3		3	MYOM3	1	24419567	Silent	SNP	C	TCGA-HC-7740-01A-11D-2114-08	8157266	24419567	224831054	2	9797											
CELSR2	1952	broad.mit.edu	37	chr1	109812119	109812119	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atgatgaggagcttctgcccCgggccctggacaaacccgtc	8	7	12	14	2	1	2	0	2	1	0	2	4	1	4	4	3	3	1	4	3	1	1	rs377326489		TCGA-HC-7740-01A-11D-2114-08	TCGA-HC-7740-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7303f9fe-88bb-48ba-b9b4-ebf9e4770c1c	9db864a0-450d-4ef4-83ff-1a869ab80803	g.chr1:109812119C>T	ENST00000271332.3	+	21	6947	c.6886C>T	c.(6886-6888)Cgg>Tgg	p.R2296W		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	2296					cerebrospinal fluid secretion (GO:0033326)|cilium assembly (GO:0042384)|cilium movement (GO:0003341)|dendrite morphogenesis (GO:0048813)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neural plate anterior/posterior regionalization (GO:0021999)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of cell-cell adhesion (GO:0022407)|regulation of protein localization (GO:0032880)|regulation of transcription, DNA-templated (GO:0006355)|ventricular system development (GO:0021591)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		GCTTCTGCCCCGGGCCCTGGA	0.592													C|||	1	0.000199681	8e-04	0	5008	,	,		18589	0		0	False		,,,				2504	0				NSCLC(158;1285 2011 34800 34852 42084)	ENST00000271332.3																			0				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82						c.(6886-6888)Cgg>Tgg		cadherin, EGF LAG seven-pass G-type receptor 2		C	TRP/ARG	0,4406		0,0,2203	69	63	65		6886	4.4	0.9	1		65	1,8599	1.2+/-3.3	0,1,4299	no	missense	CELSR2	NM_001408.2	101	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	2296/2924	109812119	1,13005	2203	4300	6503	SO:0001583	missense	1952				dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding	g.chr1:109812119C>T	D87469	CCDS796.1	1p13.3	2014-08-08	2013-02-18		ENSG00000143126	ENSG00000143126		"Cadherins / Major cadherins", "-", "GPCR / Class B : Orphans"	3231	protein-coding gene	gene with protein product		604265	"cadherin, EGF LAG seven-pass G-type receptor 2, flamingo (Drosophila) homolog"	EGFL2		9693030, 10907856	Standard	NM_001408		Approved	KIAA0279, MEGF3, Flamingo1, CDHF10	uc001dxa.4	Q9HCU4	OTTHUMG00000012003	ENST00000271332.3:c.6886C>T	1.37:g.109812119C>T	ENSP00000271332:p.Arg2296Trp						p.R2296W	NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)	21	6947	+		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)	2296					Q5T2Y7|Q92566	Missense_Mutation	SNP	ENST00000271332.3	37	c.6886C>T	CCDS796.1	.	.	.	.	.	.	.	.	.	.	C	18.02	3.529714	0.64860	0.0	1.16E-4	ENSG00000143126	ENST00000271332	T	0.68903	-0.36	4.41	4.41	0.53225	.	.	.	.	.	T	0.61837	0.2379	L	0.42245	1.32	0.35781	D	0.821628	D	0.71674	0.998	P	0.59546	0.859	T	0.67589	-0.5632	9	0.66056	D	0.02	.	9.1181	0.36771	0.1622:0.6802:0.1576:0.0	.	2296	Q9HCU4	CELR2_HUMAN	W	2296	ENSP00000271332:R2296W	ENSP00000271332:R2296W	R	+	1	2	CELSR2	109613642	0.016000	0.18221	0.950000	0.38849	0.956000	0.61745	2.114000	0.41911	2.302000	0.77476	0.462000	0.41574	CGG		0.592	CELSR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033200.1	NM_001408		4	91	0	0	0	1	0	4	91					T	109812119	C	T	109812119	3	4	213	1	0	0	0	0	1	0	0	0	3222	643	23	2	6968	2	CELSR2	1	109812119	Missense_Mutation	SNP	C	TCGA-HC-7740-01A-11D-2114-08	85392552	109812119	139438502	3	9798											
SHC1	6464	broad.mit.edu	37	chr1	154942720	154942720	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtctggcatggctgcccctaCgatcccctccccatcatcag	6	9	8	18	1	3	0	2	0	1	0	5	1	5	0	6	2	2	2	6	2	1	1			TCGA-HC-7740-01A-11D-2114-08	TCGA-HC-7740-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7303f9fe-88bb-48ba-b9b4-ebf9e4770c1c	9db864a0-450d-4ef4-83ff-1a869ab80803	g.chr1:154942720C>T	ENST00000368445.5	-	1	497	c.283G>A	c.(283-285)Gta>Ata	p.V95I	SHC1_ENST00000368453.4_Intron|SHC1_ENST00000368449.4_Intron|SHC1_ENST00000606391.1_Intron|SHC1_ENST00000368450.1_Intron|SHC1_ENST00000448116.2_Missense_Mutation_p.V95I	NM_183001.4	NP_892113.4	P29353	SHC1_HUMAN	SHC (Src homology 2 domain containing) transforming protein 1	95				V -> D (in Ref. 2; AAB49972). {ECO:0000305}.	actin cytoskeleton reorganization (GO:0031532)|activation of MAPK activity (GO:0000187)|activation of signaling protein activity involved in unfolded protein response (GO:0006987)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet activation (GO:0030168)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|Ras protein signal transduction (GO:0007265)|regulation of epidermal growth factor-activated receptor activity (GO:0007176)|regulation of growth (GO:0040008)|single organismal cell-cell adhesion (GO:0016337)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|Shc-EGFR complex (GO:0070435)	ephrin receptor binding (GO:0046875)|epidermal growth factor receptor binding (GO:0005154)|insulin receptor binding (GO:0005158)|insulin-like growth factor receptor binding (GO:0005159)|neurotrophin TRKA receptor binding (GO:0005168)|phospholipid binding (GO:0005543)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)			breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(8)|prostate(1)|skin(1)	20	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			GCTGCCCCTACGATCCCCTCC	0.687																																					NSCLC(4;32 234 1864 2492 3259 13747 17376)	ENST00000448116.2																			0				breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(8)|prostate(1)|skin(1)	20						c.(283-285)Gta>Ata		SHC (Src homology 2 domain containing) transforming protein 1							27	33	31					1																	154942720		2203	4299	6502	SO:0001583	missense	6464				activation of MAPK activity|blood coagulation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|positive regulation of DNA replication|Ras protein signal transduction|regulation of epidermal growth factor receptor activity|regulation of growth	cytosol|mitochondrial matrix|Shc-EGFR complex	epidermal growth factor receptor binding|insulin receptor binding|insulin-like growth factor receptor binding|phospholipid binding|protein binding|transmembrane receptor protein tyrosine kinase adaptor activity	g.chr1:154942720C>T	U73377	CCDS1076.1, CCDS30881.1, CCDS44233.1, CCDS44234.1	1q21	2013-02-14	2002-01-14		ENSG00000160691	ENSG00000160691		"SH2 domain containing"	10840	protein-coding gene	gene with protein product		600560	"SHC (Src homology 2 domain-containing) transforming protein 1"	SHC		1623525	Standard	NM_003029		Approved	p66	uc001ffw.3	P29353	OTTHUMG00000037295	ENST00000368445.5:c.283G>A	1.37:g.154942720C>T	ENSP00000357430:p.Val95Ile					SHC1_ENST00000606391.1_Intron|SHC1_ENST00000368453.4_Intron|SHC1_ENST00000368449.4_Intron|SHC1_ENST00000368450.1_Intron|SHC1_ENST00000368445.5_Missense_Mutation_p.V95I	p.V95I	NM_001130040.1	NP_001123512.1	P29353	SHC1_HUMAN	BRCA - Breast invasive adenocarcinoma(34;0.00034)		1	503	-	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245)		95	V -> D (in Ref. 2; AAB49972).				B5BU19|D3DV78|O15290|Q5T180|Q5T183|Q5T184|Q5T185|Q5T186|Q8N4K5|Q96CL1	Missense_Mutation	SNP	ENST00000368445.5	37	c.283G>A	CCDS30881.1	.	.	.	.	.	.	.	.	.	.	C	11.39	1.625547	0.28889	.	.	ENSG00000160691	ENST00000368445;ENST00000448116;ENST00000368443	T;T	0.63417	-0.04;-0.04	4.06	-3.1	0.05315	.	2.000660	0.02576	N	0.098336	T	0.12603	0.0306	N	0.03608	-0.345	0.09310	N	1	B;B	0.26318	0.011;0.146	B;B	0.14578	0.001;0.011	T	0.03335	-1.1047	10	0.30854	T	0.27	.	3.8341	0.08886	0.262:0.337:0.0:0.4011	.	95;95	P29353-6;P29353	.;SHC1_HUMAN	I	95;95;31	ENSP00000357430:V95I;ENSP00000401303:V95I	ENSP00000357428:V31I	V	-	1	0	SHC1	153209344	0.000000	0.05858	0.001000	0.08648	0.981000	0.71138	-0.336000	0.07863	-0.785000	0.04522	0.555000	0.69702	GTA		0.687	SHC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000090781.2	NM_183001		9	106	0	0	0	1	0	9	106					T	154942720	C	T	154942720	3	4	213	1	0	0	0	0	1	0	0	0	14270	536	19	1	1519	1	SHC1	1	154942720	Missense_Mutation	SNP	C	TCGA-HC-7740-01A-11D-2114-08	45130601	154942720	94307901	4	9799											
HHAT	55733	broad.mit.edu	37	chr1	210577986	210577986	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttattatccagtcttacacaAtgggcccatcctcagcttct	9	14	5	13	0	3	0	1	0	2	0	5	0	5	0	3	1	2	1	3	1	4	4			TCGA-HC-7740-01A-11D-2114-08	TCGA-HC-7740-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7303f9fe-88bb-48ba-b9b4-ebf9e4770c1c	9db864a0-450d-4ef4-83ff-1a869ab80803	g.chr1:210577986A>C	ENST00000367010.1	+	6	874	c.647A>C	c.(646-648)aAt>aCt	p.N216T	HHAT_ENST00000308852.6_Missense_Mutation_p.N171T|HHAT_ENST00000545781.1_Missense_Mutation_p.N153T|HHAT_ENST00000391905.3_Missense_Mutation_p.N216T|HHAT_ENST00000537898.1_Missense_Mutation_p.N151T|HHAT_ENST00000261458.3_Missense_Mutation_p.N216T|HHAT_ENST00000541565.1_Intron|HHAT_ENST00000413764.2_Missense_Mutation_p.N216T|HHAT_ENST00000545154.1_Missense_Mutation_p.N217T	NM_001170580.1	NP_001164051.1	Q5VTY9	HHAT_HUMAN	hedgehog acyltransferase	216					multicellular organismal development (GO:0007275)|protein palmitoylation (GO:0018345)|smoothened signaling pathway (GO:0007224)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	GTP binding (GO:0005525)|palmitoyltransferase activity (GO:0016409)			breast(3)|central_nervous_system(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	27				OV - Ovarian serous cystadenocarcinoma(81;0.0136)|all cancers(67;0.161)|KIRC - Kidney renal clear cell carcinoma(1967;0.215)		GTCTTACACAATGGGCCCATC	0.532																																						ENST00000367010.1																			0				breast(3)|central_nervous_system(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	27						c.(646-648)aAt>aCt		hedgehog acyltransferase							76	72	74					1																	210577986		2203	4300	6503	SO:0001583	missense	55733				multicellular organismal development	endoplasmic reticulum membrane|integral to membrane	GTP binding	g.chr1:210577986A>C	AK001586	CCDS1495.1, CCDS53471.1, CCDS53472.1, CCDS53473.1	1q32	2008-02-05			ENSG00000054392	ENSG00000054392			18270	protein-coding gene	gene with protein product		605743				11160356	Standard	NM_001170587		Approved	FLJ10724, MART-2, MART2, Skn, ski, rasp, sit, GUP2	uc009xcx.3	Q5VTY9	OTTHUMG00000036447	ENST00000367010.1:c.647A>C	1.37:g.210577986A>C	ENSP00000355977:p.Asn216Thr					HHAT_ENST00000261458.3_Missense_Mutation_p.N216T|HHAT_ENST00000413764.2_Missense_Mutation_p.N216T|HHAT_ENST00000545781.1_Missense_Mutation_p.N153T|HHAT_ENST00000391905.3_Missense_Mutation_p.N216T|HHAT_ENST00000545154.1_Missense_Mutation_p.N217T|HHAT_ENST00000308852.6_Missense_Mutation_p.N171T|HHAT_ENST00000541565.1_Intron|HHAT_ENST00000537898.1_Missense_Mutation_p.N151T	p.N216T	NM_001170580.1	NP_001164051.1	Q5VTY9	HHAT_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0136)|all cancers(67;0.161)|KIRC - Kidney renal clear cell carcinoma(1967;0.215)	6	874	+			216					B7Z4D5|B7Z5I1|B7Z868|B7ZA75|D3DT91|F5H444|Q17RZ7|Q4G0K3|Q5CZ95|Q5TGI2|Q9NVH9|Q9Y3N8	Missense_Mutation	SNP	ENST00000367010.1	37	c.647A>C	CCDS1495.1	.	.	.	.	.	.	.	.	.	.	A	15.97	2.988560	0.53934	.	.	ENSG00000054392	ENST00000413764;ENST00000545154;ENST00000537898;ENST00000391905;ENST00000545781;ENST00000261458;ENST00000308852;ENST00000367010;ENST00000426968	T;T;T;T;T;T;T;T;T	0.71341	-0.56;-0.56;-0.56;-0.56;-0.56;-0.56;-0.56;-0.56;-0.56	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	T	0.69815	0.3153	M	0.62723	1.935	0.54753	D	0.999986	B;B;P;P	0.36768	0.096;0.078;0.569;0.513	B;B;B;B	0.38880	0.098;0.036;0.284;0.202	T	0.69191	-0.5210	10	0.33141	T	0.24	-25.3402	15.3723	0.74573	1.0:0.0:0.0:0.0	.	171;217;151;216	B7Z2U8;F5H444;B7Z5I1;Q5VTY9	.;.;.;HHAT_HUMAN	T	216;217;151;216;153;216;171;216;88	ENSP00000416845:N216T;ENSP00000438468:N217T;ENSP00000442625:N151T;ENSP00000375773:N216T;ENSP00000439229:N153T;ENSP00000261458:N216T;ENSP00000308628:N171T;ENSP00000355977:N216T;ENSP00000413399:N88T	ENSP00000261458:N216T	N	+	2	0	HHAT	208644609	1.000000	0.71417	0.998000	0.56505	0.737000	0.42083	8.233000	0.89799	2.107000	0.64212	0.482000	0.46254	AAT		0.532	HHAT-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088662.1	NM_018194		11	89	0	0	0	1	0	11	89					C	210577986	A	C	210577986	3	2	213	1	0	0	0	0	1	0	0	0	7089	101	4	5	763	5	HHAT	1	210577986	Missense_Mutation	SNP	A	TCGA-HC-7740-01A-11D-2114-08	55635266	210577986	38672635	5	9800											
GMCL1	64395	broad.mit.edu	37	chr2	70068104	70068104	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgcatttggttcactgtatcGagatgatgtcttgataaagc	10	15	10	6	1	2	3	1	2	1	1	3	4	2	3	0	1	2	3	0	1	3	5			TCGA-HC-7740-01A-11D-2114-08	TCGA-HC-7740-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7303f9fe-88bb-48ba-b9b4-ebf9e4770c1c	9db864a0-450d-4ef4-83ff-1a869ab80803	g.chr2:70068104G>A	ENST00000282570.3	+	4	763	c.512G>A	c.(511-513)cGa>cAa	p.R171Q		NM_178439.3	NP_848526.1	Q96IK5	GMCL1_HUMAN	germ cell-less, spermatogenesis associated 1	171	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)	nuclear envelope (GO:0005635)|nuclear matrix (GO:0016363)				endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	15						TCACTGTATCGAGATGATGTC	0.388																																						ENST00000282570.3																			0				endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	15						c.(511-513)cGa>cAa		germ cell-less, spermatogenesis associated 1							148	123	131					2																	70068104		2203	4300	6503	SO:0001583	missense	64395				cell differentiation|multicellular organismal development|spermatogenesis	nuclear matrix		g.chr2:70068104G>A	AK023119	CCDS1895.1	2p13.3	2013-01-09	2012-08-20		ENSG00000087338	ENSG00000087338		"BTB/POZ domain containing"	23843	protein-coding gene	gene with protein product	"spermatogenesis associated 29"		"germ cell-less homolog 1 (Drosophila)"				Standard	NM_178439		Approved	FLJ13057, BTBD13, GCL1, SPATA29	uc002sfu.3	Q96IK5	OTTHUMG00000129643	ENST00000282570.3:c.512G>A	2.37:g.70068104G>A	ENSP00000282570:p.Arg171Gln						p.R171Q	NM_178439.3	NP_848526.1	Q96IK5	GMCL1_HUMAN			4	763	+			171			BTB.		Q9H826|Q9H8V7|Q9H927	Missense_Mutation	SNP	ENST00000282570.3	37	c.512G>A	CCDS1895.1	.	.	.	.	.	.	.	.	.	.	G	26.9	4.785481	0.90282	.	.	ENSG00000087338	ENST00000282570	T	0.70631	-0.5	4.04	4.04	0.47022	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.000000	0.85682	D	0.000000	T	0.66197	0.2765	N	0.08118	0	0.53688	D	0.999979	D	0.76494	0.999	D	0.69142	0.962	T	0.64542	-0.6383	10	0.21014	T	0.42	-6.8167	14.0842	0.64944	0.0:0.0:1.0:0.0	.	171	Q96IK5	GMCL1_HUMAN	Q	171	ENSP00000282570:R171Q	ENSP00000282570:R171Q	R	+	2	0	GMCL1	69921608	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.658000	0.91110	2.243000	0.73865	0.555000	0.69702	CGA		0.388	GMCL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251841.2	NM_178439		4	48	0	0	0	1	0	4	48					A	70068104	G	A	70068104	3	1	213	1	0	0	0	0	1	0	0	0	6485	1058	37	2	526	2	GMCL1	2	70068104	Missense_Mutation	SNP	G	TCGA-HC-7740-01A-11D-2114-08		70068104	173131269	6	9801											
RYBP	23429	broad.mit.edu	37	chr3	72495650	72495650	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cacagatcttcaagtacctgGtggaggtgcctttcctcaca	9	11	9	12	0	3	1	2	0	1	1	4	2	4	2	3	3	2	1	3	3	2	3			TCGA-HC-7740-01A-11D-2114-08	TCGA-HC-7740-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7303f9fe-88bb-48ba-b9b4-ebf9e4770c1c	9db864a0-450d-4ef4-83ff-1a869ab80803	g.chr3:72495650G>A	ENST00000477973.2	-	1	419	c.420C>T	c.(418-420)caC>caT	p.H140H		NM_012234.5	NP_036366.3	Q8N488	RYBP_HUMAN	RING1 and YY1 binding protein	0					apoptotic process (GO:0006915)|histone H2A monoubiquitination (GO:0035518)|multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			prostate(1)|upper_aerodigestive_tract(1)	2		Prostate(10;0.00174)|Lung NSC(201;0.0659)|Myeloproliferative disorder(1037;0.204)		BRCA - Breast invasive adenocarcinoma(55;0.000197)|Epithelial(33;0.00068)|LUSC - Lung squamous cell carcinoma(21;0.00228)|Lung(16;0.00677)|KIRC - Kidney renal clear cell carcinoma(39;0.198)|Kidney(39;0.232)		CAAGTACCTGGTGGAGGTGCC	0.438																																						ENST00000477973.1																			0				prostate(1)|upper_aerodigestive_tract(1)	2						c.(418-420)caC>caT		RING1 and YY1 binding protein							71	68	69					3																	72495650		1878	4112	5990	SO:0001819	synonymous_variant	23429				apoptosis|histone H2A monoubiquitination|multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleoplasm	DNA binding|protein binding|transcription corepressor activity|zinc ion binding	g.chr3:72495650G>A	AF179286		3p14.2	2008-07-18			ENSG00000163602	ENSG00000163602			10480	protein-coding gene	gene with protein product	"YY1 and E4TF1 associated factor 1", "ring1 interactor RYBP", "apoptin-associating protein 1", "death effector domain-associated factor"	607535				10369680	Standard	NM_012234		Approved	YEAF1, AAP1, DEDAF	uc003dpe.3	Q8N488	OTTHUMG00000159190	ENST00000477973.2:c.420C>T	3.37:g.72495650G>A							p.H140H	NM_012234.5	NP_036366.3	Q8N488	RYBP_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000197)|Epithelial(33;0.00068)|LUSC - Lung squamous cell carcinoma(21;0.00228)|Lung(16;0.00677)|KIRC - Kidney renal clear cell carcinoma(39;0.198)|Kidney(39;0.232)	1	419	-		Prostate(10;0.00174)|Lung NSC(201;0.0659)|Myeloproliferative disorder(1037;0.204)	0					Q9P2W5|Q9UMW4	Silent	SNP	ENST00000477973.2	37	c.420C>T																																																																																					0.438	RYBP-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000353762.3	NM_012234		4	32	0	0	0	1	0	4	32					A	72495650	G	A	72495650	2	1	213	1	0	0	0	0	0	0	0	1	13766	1261	44	3		3	RYBP	3	72495650	Silent	SNP	G	TCGA-HC-7740-01A-11D-2114-08		72495650	125526780	7	9802											
PROS1	5627	broad.mit.edu	37	chr3	93646107	93646107	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgcttaccgtttccgggtcaTtttcaaagacctccctggct	6	14	8	13	2	2	1	2	0	0	1	4	1	4	1	4	2	2	3	4	2	2	4			TCGA-HC-7740-01A-11D-2114-08	TCGA-HC-7740-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7303f9fe-88bb-48ba-b9b4-ebf9e4770c1c	9db864a0-450d-4ef4-83ff-1a869ab80803	g.chr3:93646107T>A	ENST00000394236.3	-	2	537	c.221A>T	c.(220-222)aAt>aTt	p.N74I	PROS1_ENST00000407433.1_5'UTR	NM_000313.3	NP_000304.2	P07225	PROS_HUMAN	protein S (alpha)	74	Gla. {ECO:0000255|PROSITE- ProRule:PRU00463}.				blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|fibrinolysis (GO:0042730)|innate immune response (GO:0045087)|leukocyte migration (GO:0050900)|negative regulation of endopeptidase activity (GO:0010951)|peptidyl-glutamic acid carboxylation (GO:0017187)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|post-translational protein modification (GO:0043687)|proteolysis (GO:0006508)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|Golgi membrane (GO:0000139)|platelet alpha granule lumen (GO:0031093)	calcium ion binding (GO:0005509)|endopeptidase inhibitor activity (GO:0004866)			endometrium(3)|kidney(5)|large_intestine(8)|lung(26)|ovary(1)|skin(2)|urinary_tract(1)	46					Drotrecogin alfa(DB00055)|Menadione(DB00170)|Sodium Tetradecyl Sulfate(DB00464)	TTCCGGGTCATTTTCAAAGAC	0.403																																						ENST00000394236.3																			0				endometrium(3)|kidney(5)|large_intestine(8)|lung(26)|ovary(1)|skin(2)|urinary_tract(1)	46						c.(220-222)aAt>aTt		protein S (alpha)	Antihemophilic Factor(DB00025)|Drotrecogin alfa(DB00055)|Menadione(DB00170)						110	107	108					3																	93646107		2203	4300	6503	SO:0001583	missense	5627				leukocyte migration|peptidyl-glutamic acid carboxylation|platelet activation|platelet degranulation|post-translational protein modification|proteolysis	endoplasmic reticulum membrane|extracellular region|Golgi lumen|Golgi membrane|platelet alpha granule lumen	calcium ion binding|endopeptidase inhibitor activity	g.chr3:93646107T>A		CCDS2923.1	3q11.1	2013-06-03			ENSG00000184500	ENSG00000184500			9456	protein-coding gene	gene with protein product		176880		PROS		214811, 1833851	Standard	NM_000313		Approved		uc003drb.4	P07225	OTTHUMG00000150354	ENST00000394236.3:c.221A>T	3.37:g.93646107T>A	ENSP00000377783:p.Asn74Ile					PROS1_ENST00000407433.1_5'UTR	p.N74I	NM_000313.3	NP_000304.2	P07225	PROS_HUMAN			2	537	-			74			Gla.		A8KAC9|D3DN28|Q15518|Q7Z715|Q9UCZ8	Missense_Mutation	SNP	ENST00000394236.3	37	c.221A>T	CCDS2923.1	.	.	.	.	.	.	.	.	.	.	T	21.2	4.108905	0.77096	.	.	ENSG00000184500	ENST00000394236;ENST00000348974	D;D	0.99252	-5.63;-5.63	4.53	4.53	0.55603	Gamma-carboxyglutamic acid-rich (GLA) domain (6);Coagulation factor, subgroup, Gla domain (1);	0.173980	0.49916	D	0.000130	D	0.99542	0.9836	H	0.94222	3.51	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98008	1.0364	10	0.87932	D	0	.	13.9809	0.64304	0.0:0.0:0.0:1.0	.	74	P07225	PROS_HUMAN	I	74;106	ENSP00000377783:N74I;ENSP00000330021:N106I	ENSP00000330021:N106I	N	-	2	0	PROS1	95128797	1.000000	0.71417	0.884000	0.34674	0.925000	0.55904	7.200000	0.77838	2.032000	0.59987	0.368000	0.22195	AAT		0.403	PROS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317762.1	NM_000313		13	115	0	0	0	1	0	13	115					A	93646107	T	A	93646107	3	1	213	1	0	0	0	0	1	0	0	0	12558	1493	52	5	1865	5	PROS1	3	93646107	Missense_Mutation	SNP	T	TCGA-HC-7740-01A-11D-2114-08	21150457	93646107	104376323	8	9803											
IRX1	79192	broad.mit.edu	37	chr5	3600022	3600022	+	Silent	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cccaagatctggtcgctggcGgagacagccacgagccccga	9	4	13	15	4	1	2	0	0	1	2	2	5	1	2	4	3	2	1	4	3	1	0	rs200644003	byFrequency	TCGA-HC-7740-01A-11D-2114-08	TCGA-HC-7740-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7303f9fe-88bb-48ba-b9b4-ebf9e4770c1c	9db864a0-450d-4ef4-83ff-1a869ab80803	g.chr5:3600022G>C	ENST00000302006.3	+	2	1012	c.960G>C	c.(958-960)gcG>gcC	p.A320A	CTD-2012M11.3_ENST00000559410.1_RNA	NM_024337.3	NP_077313.3	P78414	IRX1_HUMAN	iroquois homeobox 1	320					proximal/distal pattern formation involved in metanephric nephron development (GO:0072272)|regulation of transcription, DNA-templated (GO:0006355)|specification of loop of Henle identity (GO:0072086)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			biliary_tract(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|pancreas(1)|prostate(5)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						GGTCGCTGGCGGAGACAGCCA	0.786																																						ENST00000302006.3																			0				biliary_tract(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|pancreas(1)|prostate(5)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						c.(958-960)gcG>gcC		iroquois homeobox 1							2	2	2					5																	3600022		1581	3237	4818	SO:0001819	synonymous_variant	79192					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr5:3600022G>C	U90307	CCDS34132.1	5p15.33	2011-12-16	2007-07-13		ENSG00000170549	ENSG00000170549		"Homeoboxes / TALE class"	14358	protein-coding gene	gene with protein product		606197					Standard	NM_024337		Approved	IRX-5	uc003jde.3	P78414	OTTHUMG00000161632	ENST00000302006.3:c.960G>C	5.37:g.3600022G>C						CTD-2012M11.3_ENST00000559410.1_RNA	p.A320A	NM_024337.3	NP_077313.3	P78414	IRX1_HUMAN			2	1012	+			320					Q7Z2F8|Q8N312	Silent	SNP	ENST00000302006.3	37	c.960G>C	CCDS34132.1																																																																																				0.786	IRX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365546.1	NM_024337		2	7	0	0	0	1	0	2	7					C	3600022	G	C	3600022	2	2	213	1	0	0	0	0	0	0	0	1	7843	1103	39	5		5	IRX1	5	3600022	Silent	SNP	G	TCGA-HC-7740-01A-11D-2114-08		3600022	177315238	9	9804											
PDE1C	5137	broad.mit.edu	37	chr7	31862844	31862844	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgatcgcttggcatctgaCgagctgatgctattcaaact	9	12	9	11	2	2	3	1	3	1	0	3	4	2	3	1	1	3	4	1	1	2	3			TCGA-HC-7740-01A-11D-2114-08	TCGA-HC-7740-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7303f9fe-88bb-48ba-b9b4-ebf9e4770c1c	9db864a0-450d-4ef4-83ff-1a869ab80803	g.chr7:31862844C>T	ENST00000396191.1	-	14	1880	c.1425G>A	c.(1423-1425)tcG>tcA	p.S475S	PDE1C_ENST00000479980.1_5'Flank|PDE1C_ENST00000396182.2_Silent_p.S475S|PDE1C_ENST00000396184.3_Silent_p.S475S|PDE1C_ENST00000321453.7_Silent_p.S475S|PDE1C_ENST00000396193.1_Silent_p.S535S	NM_001191057.1	NP_001177986.1	Q14123	PDE1C_HUMAN	phosphodiesterase 1C, calmodulin-dependent 70kDa	475	Catalytic. {ECO:0000250}.				activation of phospholipase C activity (GO:0007202)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|metabolic process (GO:0008152)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)	cytosol (GO:0005829)	calmodulin-dependent cyclic-nucleotide phosphodiesterase activity (GO:0004117)|metal ion binding (GO:0046872)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	81			GBM - Glioblastoma multiforme(11;0.216)		Caffeine(DB00201)	TGGCATCTGACGAGCTGATGC	0.438																																						ENST00000396184.3																			0				NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	81						c.(1423-1425)tcG>tcA		phosphodiesterase 1C, calmodulin-dependent 70kDa							70	66	67					7																	31862844		2203	4300	6503	SO:0001819	synonymous_variant	5137				activation of phospholipase C activity|nerve growth factor receptor signaling pathway	cytosol	calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding	g.chr7:31862844C>T	U40371	CCDS5437.1, CCDS55099.1, CCDS55100.1	7p15.1-p14.3	2008-05-15	2002-08-29		ENSG00000154678	ENSG00000154678	3.1.4.17	"Phosphodiesterases"	8776	protein-coding gene	gene with protein product		602987	"phosphodiesterase 1C, calmodulin-dependent (70kD)"			8557689	Standard	XM_005249769		Approved	Hcam3	uc003tco.2	Q14123	OTTHUMG00000023836	ENST00000396191.1:c.1425G>A	7.37:g.31862844C>T						PDE1C_ENST00000321453.7_Silent_p.S475S|PDE1C_ENST00000396182.2_Silent_p.S475S|PDE1C_ENST00000396191.1_Silent_p.S475S|PDE1C_ENST00000396193.1_Silent_p.S535S	p.S475S	NM_005020.2	NP_005011.1	Q14123	PDE1C_HUMAN	GBM - Glioblastoma multiforme(11;0.216)		15	1629	-			475			Catalytic (By similarity).		B3KPC6|E9PE92|Q14124|Q8NB10	Silent	SNP	ENST00000396191.1	37	c.1425G>A	CCDS55099.1																																																																																				0.438	PDE1C-006	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000328458.1			7	60	0	0	0	1	0	7	60					T	31862844	C	T	31862844	2	4	213	1	0	0	0	0	0	0	0	1	11635	523	19	1		1	PDE1C	7	31862844	Silent	SNP	C	TCGA-HC-7740-01A-11D-2114-08		31862844	127275819	10	9805											
SEMA3D	223117	broad.mit.edu	37	chr7	84628962	84628962	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtagtctttgtatctcaaccGtgactcagccaatagatcct	10	13	7	11	1	3	2	2	1	2	1	5	2	4	2	3	0	2	2	3	0	5	4			TCGA-HC-7740-01A-11D-2114-08	TCGA-HC-7740-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7303f9fe-88bb-48ba-b9b4-ebf9e4770c1c	9db864a0-450d-4ef4-83ff-1a869ab80803	g.chr7:84628962G>A	ENST00000284136.6	-	17	2171	c.2128C>T	c.(2128-2130)Cgg>Tgg	p.R710W	SEMA3D_ENST00000484038.1_5'UTR	NM_152754.2	NP_689967.2	O95025	SEM3D_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3D	710					cell differentiation (GO:0030154)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|membrane (GO:0016020)	receptor activity (GO:0004872)			NS(1)|breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(19)|lung(29)|ovary(3)|pancreas(1)|prostate(4)|skin(2)	73						TATCTCAACCGTGACTCAGCC	0.488																																					Ovarian(63;442 1191 17318 29975 31528)	ENST00000284136.6																			0				NS(1)|breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(19)|lung(29)|ovary(3)|pancreas(1)|prostate(4)|skin(2)	73						c.(2128-2130)Cgg>Tgg		sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3D							163	135	145					7																	84628962		2203	4300	6503	SO:0001583	missense	223117				cell differentiation|nervous system development	extracellular region|membrane	receptor activity	g.chr7:84628962G>A	BC029590	CCDS34676.1	7q21.11	2013-01-11			ENSG00000153993	ENSG00000153993		"Semaphorins", "Immunoglobulin superfamily / V-set domain containing"	10726	protein-coding gene	gene with protein product		609907					Standard	NM_152754		Approved	coll-2, Sema-Z2	uc003uic.3	O95025	OTTHUMG00000154569	ENST00000284136.6:c.2128C>T	7.37:g.84628962G>A	ENSP00000284136:p.Arg710Trp					SEMA3D_ENST00000484038.1_5'UTR	p.R710W	NM_152754.2	NP_689967.2	O95025	SEM3D_HUMAN			17	2171	-			710					A6NK46|Q6UW77|Q8NCQ1	Missense_Mutation	SNP	ENST00000284136.6	37	c.2128C>T	CCDS34676.1	.	.	.	.	.	.	.	.	.	.	G	17.89	3.499483	0.64298	.	.	ENSG00000153993	ENST00000284136	T	0.33654	1.4	5.73	3.85	0.44370	.	0.053759	0.85682	D	0.000000	T	0.34948	0.0915	L	0.56769	1.78	0.80722	D	1	D	0.62365	0.991	B	0.40410	0.328	T	0.43294	-0.9400	10	0.87932	D	0	.	13.9238	0.63950	0.0:0.0:0.6039:0.3961	.	710	O95025	SEM3D_HUMAN	W	710	ENSP00000284136:R710W	ENSP00000284136:R710W	R	-	1	2	SEMA3D	84466898	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.656000	0.54467	1.411000	0.46957	0.655000	0.94253	CGG		0.488	SEMA3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336084.2	NM_152754		6	100	0	0	0	1	0	6	100					A	84628962	G	A	84628962	3	1	213	1	0	0	0	0	1	0	0	0	14027	1144	40	1	209	1	SEMA3D	7	84628962	Missense_Mutation	SNP	G	TCGA-HC-7740-01A-11D-2114-08	52766118	84628962	74509701	11	9806											
WHSC1L1	54904	broad.mit.edu	37	chr8	38157097	38157097	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	catggggtctgaatggtcctGaactatcagccctatacgaa	11	10	10	10	1	2	2	1	2	1	0	3	3	3	2	2	3	3	0	2	3	6	3			TCGA-HC-7740-01A-11D-2114-08	TCGA-HC-7740-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7303f9fe-88bb-48ba-b9b4-ebf9e4770c1c	9db864a0-450d-4ef4-83ff-1a869ab80803	g.chr8:38157097G>A	ENST00000317025.8	-	15	3140	c.2623C>T	c.(2623-2625)Cag>Tag	p.Q875*	WHSC1L1_ENST00000433384.2_Intron|WHSC1L1_ENST00000527502.1_Nonsense_Mutation_p.Q875*	NM_023034.1	NP_075447.1	Q9BZ95	NSD3_HUMAN	Wolf-Hirschhorn syndrome candidate 1-like 1	875					histone lysine methylation (GO:0034968)|histone methylation (GO:0016571)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	24	Colorectal(12;0.000442)|Esophageal squamous(3;0.0725)	all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.065)	Epithelial(3;3.12e-43)|all cancers(3;1.72e-38)|BRCA - Breast invasive adenocarcinoma(5;2.84e-27)|LUSC - Lung squamous cell carcinoma(2;2.79e-25)|Lung(2;5.03e-23)|COAD - Colon adenocarcinoma(9;0.0511)			GAATGGTCCTGAACTATCAGC	0.393			T	NUP98	AML																																	ENST00000317025.8				Dom	yes		8	8p12	54904	T	Wolf-Hirschhorn syndrome candidate 1-like 1 (NSD3)			L	NUP98		AML		0				NS(1)|breast(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	24						c.(2623-2625)Cag>Tag		Wolf-Hirschhorn syndrome candidate 1-like 1							93	86	88					8																	38157097		1907	4118	6025	SO:0001587	stop_gained	54904				cell differentiation|cell growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome	histone-lysine N-methyltransferase activity|zinc ion binding	g.chr8:38157097G>A	AF332469	CCDS6105.1, CCDS43729.1	8p11.2	2013-05-20			ENSG00000147548	ENSG00000147548			12767	protein-coding gene	gene with protein product		607083				10802047, 23269674	Standard	NM_023034		Approved	FLJ20353, NSD3	uc003xli.3	Q9BZ95		ENST00000317025.8:c.2623C>T	8.37:g.38157097G>A	ENSP00000313983:p.Gln875*					WHSC1L1_ENST00000527502.1_Nonsense_Mutation_p.Q875*|WHSC1L1_ENST00000433384.2_Intron	p.Q875*	NM_023034.1	NP_075447.1	Q9BZ95	NSD3_HUMAN	Epithelial(3;3.12e-43)|all cancers(3;1.72e-38)|BRCA - Breast invasive adenocarcinoma(5;2.84e-27)|LUSC - Lung squamous cell carcinoma(2;2.79e-25)|Lung(2;5.03e-23)|COAD - Colon adenocarcinoma(9;0.0511)		15	3140	-	Colorectal(12;0.000442)|Esophageal squamous(3;0.0725)	all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.065)	875					B7ZL11|D3DSX1|Q1RMD3|Q3B796|Q6ZSA5|Q9BYU8|Q9BYU9|Q9H2M8|Q9H9W9|Q9NXA6	Nonsense_Mutation	SNP	ENST00000317025.8	37	c.2623C>T	CCDS43729.1	.	.	.	.	.	.	.	.	.	.	G	46	12.195036	0.99645	.	.	ENSG00000147548	ENST00000317025;ENST00000446459;ENST00000527502	.	.	.	5.83	5.83	0.93111	.	0.000000	0.46145	U	0.000313	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.27082	T	0.32	.	20.111	0.97911	0.0:0.0:1.0:0.0	.	.	.	.	X	875;812;875	.	ENSP00000313983:Q875X	Q	-	1	0	WHSC1L1	38276254	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.476000	0.97823	2.747000	0.94245	0.650000	0.86243	CAG		0.393	WHSC1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381924.3	NM_023034		10	47	0	0	0	1	0	10	47					A	38157097	G	A	38157097	4	1	213	1	0	0	0	0	0	1	0	0	17360	1299	45	3	1730	3	WHSC1L1	8	38157097	Nonsense_Mutation	SNP	G	TCGA-HC-7740-01A-11D-2114-08		38157097	108206925	12	9807											
TIGD5	84948	broad.mit.edu	37	chr8	144681434	144681434	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttcatgcgcagcttcatgcTcaaggacatgctctacctgg	8	11	9	13	1	4	0	3	0	1	0	4	1	4	1	1	2	5	4	1	2	2	3			TCGA-HC-7740-01A-11D-2114-08	TCGA-HC-7740-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7303f9fe-88bb-48ba-b9b4-ebf9e4770c1c	9db864a0-450d-4ef4-83ff-1a869ab80803	g.chr8:144681434T>C	ENST00000504548.2	+	1	1361	c.1361T>C	c.(1360-1362)cTc>cCc	p.L454P	TIGD5_ENST00000321385.3_Missense_Mutation_p.L405P|EEF1D_ENST00000531770.1_5'Flank|EEF1D_ENST00000395119.3_5'Flank|EEF1D_ENST00000531621.1_5'Flank|EEF1D_ENST00000529272.1_5'Flank|EEF1D_ENST00000532400.1_5'Flank|EEF1D_ENST00000526838.1_5'Flank|RP11-661A12.14_ENST00000606452.1_lincRNA|EEF1D_ENST00000524624.1_5'Flank|EEF1D_ENST00000419152.2_5'Flank|EEF1D_ENST00000317198.6_5'Flank|EEF1D_ENST00000423316.2_5'Flank|EEF1D_ENST00000528610.1_5'Flank|EEF1D_ENST00000442189.2_5'Flank	NM_032862.4	NP_116251.4	Q53EQ6	TIGD5_HUMAN	tigger transposable element derived 5	454	DDE 2.					nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|lung(3)|ovary(1)|soft_tissue(1)|urinary_tract(1)	7	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239)			AGCTTCATGCTCAAGGACATG	0.667																																						ENST00000321385.3																			0				NS(1)|lung(3)|ovary(1)|soft_tissue(1)|urinary_tract(1)	7						c.(1213-1215)cTc>cCc		tigger transposable element derived 5							23	24	23					8																	144681434		2189	4290	6479	SO:0001583	missense	84948				regulation of transcription, DNA-dependent	chromosome, centromeric region	DNA binding	g.chr8:144681434T>C	AK027832	CCDS6406.1, CCDS6406.2	8q24.3	2008-02-01				ENSG00000179886			18336	protein-coding gene	gene with protein product							Standard	NM_032862		Approved	FLJ14926	uc003yyx.2	Q53EQ6		ENST00000504548.2:c.1361T>C	8.37:g.144681434T>C	ENSP00000421489:p.Leu454Pro					TIGD5_ENST00000504548.2_Missense_Mutation_p.L454P	p.L405P			E7EWS2	E7EWS2_HUMAN	Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239)		1	1361	+	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		454					E7EWS2|Q6NT83|Q8N5A1|Q96JW8	Missense_Mutation	SNP	ENST00000504548.2	37	c.1214T>C	CCDS6406.2	.	.	.	.	.	.	.	.	.	.	T	16.58	3.163734	0.57476	.	.	ENSG00000179886	ENST00000504548;ENST00000321385	T;T	0.50277	0.75;0.75	4.3	4.3	0.51218	.	0.000000	0.50627	U	0.000114	T	0.60405	0.2266	L	0.48642	1.525	0.50813	D	0.999896	D	0.89917	1.0	D	0.77557	0.99	T	0.63888	-0.6535	10	0.87932	D	0	.	12.6665	0.56846	0.0:0.0:0.0:1.0	.	405	Q53EQ6	TIGD5_HUMAN	P	454;405	ENSP00000421489:L454P;ENSP00000315906:L405P	ENSP00000315906:L405P	L	+	2	0	TIGD5	144752577	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.074000	0.57577	1.570000	0.49709	0.533000	0.62120	CTC		0.667	TIGD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368269.1	NM_032862		6	25	0	0	0	1	0	6	25					C	144681434	T	C	144681434	3	2	213	1	0	0	0	0	1	0	0	0	15896	1551	54	4	1363	4	TIGD5	8	144681434	Missense_Mutation	SNP	T	TCGA-HC-7740-01A-11D-2114-08	106524337	144681434	1682588	13	9808											
CHAT	1103	broad.mit.edu	37	chr10	50835782	50835782	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctccaattggcctgctgacGtctgacgggaggagcgagtg	7	8	15	11	3	1	2	0	2	1	0	2	5	2	4	3	3	2	1	3	3	1	1	rs529337162	byFrequency	TCGA-HC-7740-01A-11D-2114-08	TCGA-HC-7740-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7303f9fe-88bb-48ba-b9b4-ebf9e4770c1c	9db864a0-450d-4ef4-83ff-1a869ab80803	g.chr10:50835782G>A	ENST00000337653.2	+	7	1215	c.1062G>A	c.(1060-1062)acG>acA	p.T354T	CHAT_ENST00000339797.1_Silent_p.T236T|CHAT_ENST00000351556.3_Silent_p.T236T|CHAT_ENST00000395559.2_Silent_p.T236T|CHAT_ENST00000395562.2_Silent_p.T272T|CHAT_ENST00000455728.2_Silent_p.T236T	NM_001142929.1|NM_020549.4	NP_001136401.1|NP_065574	P28329	CLAT_HUMAN	choline O-acetyltransferase	354					adult walking behavior (GO:0007628)|dendrite development (GO:0016358)|establishment of synaptic specificity at neuromuscular junction (GO:0007529)|glycerophospholipid biosynthetic process (GO:0046474)|muscle organ development (GO:0007517)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter secretion (GO:0007269)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|rhythmic behavior (GO:0007622)|rhythmic excitation (GO:0043179)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	choline O-acetyltransferase activity (GO:0004102)			central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(11)|lung(34)|prostate(3)|urinary_tract(1)	56		all_neural(218;0.107)		GBM - Glioblastoma multiforme(2;0.000585)	Choline(DB00122)|Nicotine(DB00184)	GCCTGCTGACGTCTGACGGGA	0.592													G|||	8	0.00159744	0	0	5008	,	,		21417	0		0	False		,,,				2504	0.0082					ENST00000395562.2																			0				central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(11)|lung(34)|prostate(3)|urinary_tract(1)	56						c.(814-816)acG>acA		choline O-acetyltransferase	Choline(DB00122)						99	82	88					10																	50835782		2203	4300	6503	SO:0001819	synonymous_variant	1103				neurotransmitter biosynthetic process|neurotransmitter secretion	cytosol|nucleus	choline O-acetyltransferase activity	g.chr10:50835782G>A	AF305907	CCDS7232.1, CCDS7233.1, CCDS44389.1	10q11.2	2010-05-11	2010-05-11		ENSG00000070748	ENSG00000070748	2.3.1.6		1912	protein-coding gene	gene with protein product		118490	"choline acetyltransferase"			1840566	Standard	NM_020984		Approved		uc001jhz.2	P28329	OTTHUMG00000018198	ENST00000337653.2:c.1062G>A	10.37:g.50835782G>A						CHAT_ENST00000337653.2_Silent_p.T354T|CHAT_ENST00000395559.2_Silent_p.T236T|CHAT_ENST00000455728.2_Silent_p.T236T|CHAT_ENST00000351556.3_Silent_p.T236T|CHAT_ENST00000339797.1_Silent_p.T236T	p.T272T	NM_001142933.1|NM_001142934.1	NP_001136405.1|NP_001136406.1	P28329	CLAT_HUMAN		GBM - Glioblastoma multiforme(2;0.000585)	8	1285	+		all_neural(218;0.107)	354					A2BDF4|A2BDF5|Q16488|Q9BQ23|Q9BQ35|Q9BQE1	Silent	SNP	ENST00000337653.2	37	c.816G>A	CCDS7232.1																																																																																				0.592	CHAT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047997.1	NM_020549		7	71	0	0	0	1	0	7	71					A	50835782	G	A	50835782	2	1	213	1	0	0	0	0	0	0	0	1	3313	1132	40	1		1	CHAT	10	50835782	Silent	SNP	G	TCGA-HC-7740-01A-11D-2114-08		50835782	84698965	14	9809											
HPS5	11234	broad.mit.edu	37	chr11	18313152	18313152	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcaaagtgtggtccacatgTccactggtgcttttgatctt	7	15	10	9	0	1	1	0	1	1	0	3	1	3	1	2	2	2	2	2	2	1	3			TCGA-HC-7740-01A-11D-2114-08	TCGA-HC-7740-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7303f9fe-88bb-48ba-b9b4-ebf9e4770c1c	9db864a0-450d-4ef4-83ff-1a869ab80803	g.chr11:18313152T>C	ENST00000349215.3	-	16	2554	c.2277A>G	c.(2275-2277)ggA>ggG	p.G759G	HPS5_ENST00000352460.3_5'UTR|HPS5_ENST00000438420.2_Silent_p.G645G|HPS5_ENST00000396253.3_Silent_p.G645G	NM_181507.1	NP_852608.1	Q9UPZ3	HPS5_HUMAN	Hermansky-Pudlak syndrome 5	759					blood coagulation (GO:0007596)|organelle organization (GO:0006996)|pigmentation (GO:0043473)	BLOC-2 complex (GO:0031084)				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						GGTCCACATGTCCACTGGTGC	0.433									Hermansky-Pudlak syndrome																													ENST00000396253.3																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						c.(1933-1935)ggA>ggG		Hermansky-Pudlak syndrome 5							148	137	141					11																	18313152		2199	4293	6492	SO:0001819	synonymous_variant	11234	Hermansky-Pudlak syndrome	Familial Cancer Database	HPS, HPS1-8		cytosol		g.chr11:18313152T>C	AB023234	CCDS7836.1, CCDS7837.1	11p14	2014-06-18			ENSG00000110756	ENSG00000110756			17022	protein-coding gene	gene with protein product		607521				10231032, 10094488	Standard	NM_181507		Approved		uc001mod.1	Q9UPZ3	OTTHUMG00000166612	ENST00000349215.3:c.2277A>G	11.37:g.18313152T>C						HPS5_ENST00000352460.3_5'UTR|HPS5_ENST00000349215.3_Silent_p.G759G|HPS5_ENST00000438420.2_Silent_p.G645G	p.G645G	NM_007216.3	NP_009147.3	Q9UPZ3	HPS5_HUMAN			15	2397	-			759					A8K6J8|A8K8S1|D3DQX9|D3DQY0|O95942|Q8N4U0	Silent	SNP	ENST00000349215.3	37	c.1935A>G	CCDS7836.1																																																																																				0.433	HPS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390808.1	NM_181507		11	123	0	0	0	1	0	11	123					C	18313152	T	C	18313152	2	2	213	1	0	0	0	0	0	0	0	1	7342	1654	58	4		4	HPS5	11	18313152	Silent	SNP	T	TCGA-HC-7740-01A-11D-2114-08		18313152	116693364	15	9810											
SMARCC2	6601	broad.mit.edu	37	chr12	56558126	56558126	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gggcaggaggttgccctgaaCagctgccacaatggcagggc	9	5	16	11	0	0	1	0	1	0	0	0	2	0	2	2	5	4	4	2	5	2	1			TCGA-HC-7740-01A-11D-2114-08	TCGA-HC-7740-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7303f9fe-88bb-48ba-b9b4-ebf9e4770c1c	9db864a0-450d-4ef4-83ff-1a869ab80803	g.chr12:56558126C>G	ENST00000267064.4	-	27	3615	c.3529G>C	c.(3529-3531)Gtt>Ctt	p.V1177L	SMARCC2_ENST00000394023.3_Missense_Mutation_p.V1115L|SMARCC2_ENST00000550164.1_Missense_Mutation_p.V1208L|RP11-977G19.5_ENST00000553176.1_RNA|SMARCC2_ENST00000347471.4_Intron	NM_003075.3	NP_003066.2	Q8TAQ2	SMRC2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2	1177	Pro-rich.				ATP-dependent chromatin remodeling (GO:0043044)|chromatin remodeling (GO:0006338)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome disassembly (GO:0006337)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase II promoter involved in forebrain neuron fate commitment (GO:0021882)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)			breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(18;0.123)			TTGCCCTGAACAGCTGCCACA	0.662																																						ENST00000394023.3																			0				breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	41						c.(3343-3345)Gtt>Ctt		SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2							34	37	36					12																	56558126		2196	4286	6482	SO:0001583	missense	6601				chromatin remodeling|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity	g.chr12:56558126C>G	U66616	CCDS8907.1, CCDS8908.1, CCDS55835.1	12q13.2	2008-05-14				ENSG00000139613			11105	protein-coding gene	gene with protein product		601734				8804307, 9693044	Standard	NM_001130420		Approved	BAF170, Rsc8, CRACC2	uc001skb.3	Q8TAQ2	OTTHUMG00000170288	ENST00000267064.4:c.3529G>C	12.37:g.56558126C>G	ENSP00000267064:p.Val1177Leu					SMARCC2_ENST00000550164.1_Missense_Mutation_p.V1208L|RP11-977G19.5_ENST00000553176.1_RNA|SMARCC2_ENST00000347471.4_Intron|SMARCC2_ENST00000267064.4_Missense_Mutation_p.V1177L	p.V1115L	NM_001130420.1	NP_001123892.1	Q8TAQ2	SMRC2_HUMAN	OV - Ovarian serous cystadenocarcinoma(18;0.123)		29	3448	-			1079			Pro-rich.		F8VTJ5|Q59GV3|Q92923|Q96E12|Q96GY4	Missense_Mutation	SNP	ENST00000267064.4	37	c.3343G>C	CCDS8907.1	.	.	.	.	.	.	.	.	.	.	C	15.41	2.824777	0.50739	.	.	ENSG00000139613	ENST00000394023;ENST00000550164;ENST00000267064	T;T;T	0.44083	1.16;0.93;0.95	5.28	5.28	0.74379	.	0.000000	0.42548	D	0.000686	T	0.22589	0.0545	N	0.08118	0	0.27682	N	0.946426	B;B;B	0.16396	0.017;0.01;0.01	B;B;B	0.08055	0.003;0.001;0.002	T	0.09422	-1.0675	10	0.87932	D	0	-10.1663	8.4904	0.33098	0.0:0.8328:0.0:0.1672	.	1115;1119;1177	F8VTJ5;Q59G16;Q8TAQ2	.;.;SMRC2_HUMAN	L	1115;1208;1177	ENSP00000377591:V1115L;ENSP00000449396:V1208L;ENSP00000267064:V1177L	ENSP00000267064:V1177L	V	-	1	0	SMARCC2	54844393	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.495000	0.35627	2.639000	0.89480	0.563000	0.77884	GTT		0.662	SMARCC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000408370.1			7	108	0	0	0	1	0	7	108					G	56558126	C	G	56558126	3	3	213	1	0	0	0	0	1	0	0	0	14776	478	17	5	123	5	SMARCC2	12	56558126	Missense_Mutation	SNP	C	TCGA-HC-7740-01A-11D-2114-08		56558126	77293769	16	9811											
TRHDE	29953	broad.mit.edu	37	chr12	73056936	73056936	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggaaaatgctttaccaagaCgagcttttccaatggttagg	12	12	10	7	1	0	1	0	0	0	1	1	3	1	2	2	3	3	3	2	3	6	5	rs200307970	byFrequency	TCGA-HC-7740-01A-11D-2114-08	TCGA-HC-7740-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7303f9fe-88bb-48ba-b9b4-ebf9e4770c1c	2b9ec727-0616-4b5f-991d-e28121bd724b	g.chr12:73056936C>T	ENST00000261180.4	+	19	3132	c.3036C>T	c.(3034-3036)gaC>gaT	p.D1012D		NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	1012					cell-cell signaling (GO:0007267)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						TTTACCAAGACGAGCTTTTCC	0.388													C|||	2	0.000399361	0	0	5008	,	,		16857	0.001		0.001	False		,,,				2504	0					ENST00000261180.4																			0				NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						c.(3034-3036)gaC>gaT		thyrotropin-releasing hormone degrading enzyme							53	55	54					12																	73056936		2203	4300	6503	SO:0001819	synonymous_variant	29953				cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding	g.chr12:73056936C>T	AF126372	CCDS9004.1	12q15-q21	2012-07-25		2005-08-09		ENSG00000072657	3.4.19.6		30748	protein-coding gene	gene with protein product	"pyroglutamyl-peptidase II", "pyroglutamyl aminopeptidase II", "TRH-specific aminopeptidase"	606950				10491199, 12975309	Standard	NM_013381		Approved	PGPEP2, TRH-DE, PAP-II	uc001sxa.3	Q9UKU6		ENST00000261180.4:c.3036C>T	12.37:g.73056936C>T							p.D1012D	NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN			19	3132	+			1012					A5PL19|Q6UWJ4	Silent	SNP	ENST00000261180.4	37	c.3036C>T	CCDS9004.1																																																																																				0.388	TRHDE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405380.1	NM_013381		6	66	0	0	0	1	0	6	66					T	73056936	C	T	73056936	2	4	213	1	0	0	0	0	0	0	0	1	16476	535	19	1		1	TRHDE	12	73056936	Silent	SNP	C	TCGA-HC-7740-01A-11D-2114-08	16498810	73056936	60794959	17	9812											
NAA25	80018	broad.mit.edu	37	chr12	112486111	112486113	+	In_Frame_Del	DEL	AGA	AGA	-																															cttacatatttgcttcaagtAgaaggtctaacagcatccgt																										TCGA-HC-7740-01A-11D-2114-08	TCGA-HC-7740-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7303f9fe-88bb-48ba-b9b4-ebf9e4770c1c	9db864a0-450d-4ef4-83ff-1a869ab80803	g.chr12:112486111_112486113delAGA	ENST00000261745.4	-	16	2111_2113	c.1863_1865delTCT	c.(1861-1866)cttcta>cta	p.621_622LL>L		NM_024953.3	NP_079229.2	Q14CX7	NAA25_HUMAN	N(alpha)-acetyltransferase 25, NatB auxiliary subunit	621						cytoplasm (GO:0005737)				autonomic_ganglia(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(1)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	46						TGCTTCAAGTAGAAGGTCTAACA	0.399																																						ENST00000261745.4																			0				autonomic_ganglia(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(1)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	46						c.(1861-1866)cta>ct		N(alpha)-acetyltransferase 25, NatB auxiliary subunit																																				SO:0001651	inframe_deletion	80018					cytoplasm	protein binding	g.chr12:112486111_112486113delAGA	AB054990	CCDS9159.1	12q24.13	2013-10-11	2010-01-14	2010-01-14		ENSG00000111300		"N(alpha)-acetyltransferase subunits"	25783	protein-coding gene	gene with protein product		612755	"chromosome 12 open reading frame 30"	C12orf30		19660095	Standard	NM_024953		Approved	FLJ13089	uc001ttm.3	Q14CX7	OTTHUMG00000169638	ENST00000261745.4:c.1863_1865delTCT	12.37:g.112486111_112486113delAGA	ENSP00000261745:p.Leu623del						p.LL621del	NM_024953.3	NP_079229.2	Q14CX7	NAA25_HUMAN			16	2111_2113	-			621					A0JLU7|Q6MZH1|Q7Z4N6|Q9H911	In_Frame_Del	DEL	ENST00000261745.4	37	c.1863_1865delTCT	CCDS9159.1																																																																																				0.399	NAA25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405205.1	NM_024953		8	65						8	65	---	---	---	---	-	112486113	AGA	-	112486111	7	5	213	1	0	1	0	1	0	0	0	0	10121	420	15	0	1089	0	NAA25	12	112486111	In_Frame_Del	DEL	AGA	TCGA-HC-7740-01A-11D-2114-08	39429175	112486111	21365784	18	9813											
HEATR5A	25938	broad.mit.edu	37	chr14	31841095	31841095	+	Frame_Shift_Del	DEL	G	G	-																															agtaagaagatcaccacagtGggaaacaaagctcttgatag																										TCGA-HC-7740-01A-11D-2114-08	TCGA-HC-7740-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7303f9fe-88bb-48ba-b9b4-ebf9e4770c1c	9db864a0-450d-4ef4-83ff-1a869ab80803	g.chr14:31841095delG	ENST00000389961.3	-	12	1863	c.1864delC	c.(1864-1866)cacfs	p.H622fs	HEATR5A_ENST00000543095.2_Frame_Shift_Del_p.H628fs|HEATR5A_ENST00000439727.1_Frame_Shift_Del_p.H335fs|HEATR5A_ENST00000439348.1_Frame_Shift_Del_p.H622fs|HEATR5A_ENST00000404677.3_Frame_Shift_Del_p.H628fs			Q86XA9	HTR5A_HUMAN	HEAT repeat containing 5A	622										breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)	26	Hepatocellular(127;0.0877)|Breast(36;0.137)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.0797)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.0059)		TCACCACAGTGGGAAACAAAG	0.408																																						ENST00000543095.2																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)	26						c.(1882-1884)acfs		HEAT repeat containing 5A							50	47	48					14																	31841095		1906	4100	6006	SO:0001589	frameshift_variant	25938						binding	g.chr14:31841095delG	AB037737		14q12	2012-04-19	2007-01-02	2007-01-02	ENSG00000129493	ENSG00000129493			20276	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 125"	C14orf125			Standard	NM_015473		Approved	DKFZP434I1735	uc001wrf.4	Q86XA9	OTTHUMG00000169043	ENST00000389961.3:c.1864delC	14.37:g.31841095delG	ENSP00000374611:p.His622fs					HEATR5A_ENST00000389961.3_Frame_Shift_Del_p.H622fs|HEATR5A_ENST00000439348.1_Frame_Shift_Del_p.H622fs|HEATR5A_ENST00000404677.3_Frame_Shift_Del_p.H628fs|HEATR5A_ENST00000439727.1_Frame_Shift_Del_p.H335fs	p.H628fs	NM_015473.3	NP_056288.2	Q86XA9	HTR5A_HUMAN	LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.0797)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.0059)	13	2066	-	Hepatocellular(127;0.0877)|Breast(36;0.137)		622					Q68DD8|Q6P3S5|Q6P5R9|Q9H8D7|Q9NXB7|Q9P2N0|Q9UFQ3	Frame_Shift_Del	DEL	ENST00000389961.3	37	c.1882delC																																																																																					0.408	HEATR5A-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_015473		2	4						2	4	---	---	---	---	-	31841095	G	-	31841095	7	5	213	1	0	1	0	1	0	0	0	0	7031	1348	47	0	4354	0	HEATR5A	14	31841095	Frame_Shift_Del	DEL	G	TCGA-HC-7740-01A-11D-2114-08		31841095	75508445	19	9814											
PTPN9	5780	broad.mit.edu	37	chr15	75801287	75801287	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gactttgtccttcaggaggaGactgatgatggaatagggca	11	10	14	6	0	1	3	1	2	0	1	2	7	2	5	1	4	0	1	1	4	2	3			TCGA-HC-7740-01A-11D-2114-08	TCGA-HC-7740-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7303f9fe-88bb-48ba-b9b4-ebf9e4770c1c	9db864a0-450d-4ef4-83ff-1a869ab80803	g.chr15:75801287G>C	ENST00000306726.2	-	6	1122	c.610C>G	c.(610-612)Ctc>Gtc	p.L204V		NM_002833.2	NP_002824.1	P43378	PTN9_HUMAN	protein tyrosine phosphatase, non-receptor type 9	204	CRAL-TRIO. {ECO:0000255|PROSITE- ProRule:PRU00056}.				peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)	non-membrane spanning protein tyrosine phosphatase activity (GO:0004726)|protein tyrosine phosphatase activity (GO:0004725)			central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TTCAGGAGGAGACTGATGATG	0.473																																						ENST00000306726.2																			0				central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						c.(610-612)Ctc>Gtc		protein tyrosine phosphatase, non-receptor type 9							72	69	70					15																	75801287		2197	4294	6491	SO:0001583	missense	5780					cytoplasmic part	non-membrane spanning protein tyrosine phosphatase activity|protein binding	g.chr15:75801287G>C		CCDS10280.1	15q23	2011-06-09			ENSG00000169410	ENSG00000169410		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"	9661	protein-coding gene	gene with protein product		600768				1557404	Standard	NM_002833		Approved	MEG2	uc002bal.3	P43378	OTTHUMG00000142838	ENST00000306726.2:c.610C>G	15.37:g.75801287G>C	ENSP00000303554:p.Leu204Val						p.L204V	NM_002833.2	NP_002824.1	P43378	PTN9_HUMAN			6	1122	-			204			CRAL-TRIO.		Q53XR9	Missense_Mutation	SNP	ENST00000306726.2	37	c.610C>G	CCDS10280.1	.	.	.	.	.	.	.	.	.	.	G	15.35	2.808279	0.50421	.	.	ENSG00000169410	ENST00000306726;ENST00000544966	D	0.84370	-1.84	5.48	3.35	0.38373	Cellular retinaldehyde-binding/triple function, C-terminal (5);	0.133960	0.51477	N	0.000086	T	0.78323	0.4265	L	0.48877	1.53	0.48901	D	0.999724	P	0.41080	0.737	B	0.36289	0.221	T	0.76310	-0.3006	10	0.31617	T	0.26	.	12.6584	0.56799	0.0:0.1183:0.7447:0.137	.	204	P43378	PTN9_HUMAN	V	204;194	ENSP00000303554:L204V	ENSP00000303554:L204V	L	-	1	0	PTPN9	73588342	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.015000	0.64035	1.275000	0.44379	0.467000	0.42956	CTC		0.473	PTPN9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286474.1			6	42	0	0	0	1	0	6	42					C	75801287	G	C	75801287	3	2	213	1	0	0	0	0	1	0	0	0	12794	942	33	5	1203	5	PTPN9	15	75801287	Missense_Mutation	SNP	G	TCGA-HC-7740-01A-11D-2114-08		75801287	26730105	20	9815											
GRIN2A	2903	broad.mit.edu	37	chr16	10273944	10273944	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aaaatccagcatctgggctaCggcctcctggtccgtgtcgt	7	10	11	13	3	1	0	0	0	1	0	5	0	4	0	4	3	2	2	4	3	3	1			TCGA-HC-7740-01A-11D-2114-08	TCGA-HC-7740-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7303f9fe-88bb-48ba-b9b4-ebf9e4770c1c	9db864a0-450d-4ef4-83ff-1a869ab80803	g.chr16:10273944C>T	ENST00000396573.2	-	3	634	c.325G>A	c.(325-327)Gta>Ata	p.V109I	GRIN2A_ENST00000562109.1_Missense_Mutation_p.V109I|GRIN2A_ENST00000396575.2_Missense_Mutation_p.V109I|GRIN2A_ENST00000404927.2_Missense_Mutation_p.V109I|GRIN2A_ENST00000330684.3_Missense_Mutation_p.V109I	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	109					directional locomotion (GO:0033058)|dopamine metabolic process (GO:0042417)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning or memory (GO:0007611)|memory (GO:0007613)|negative regulation of protein catabolic process (GO:0042177)|neurogenesis (GO:0022008)|positive regulation of apoptotic process (GO:0043065)|protein localization (GO:0008104)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic plasticity (GO:0048167)|response to amphetamine (GO:0001975)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to wounding (GO:0009611)|sensory perception of pain (GO:0019233)|serotonin metabolic process (GO:0042428)|sleep (GO:0030431)|startle response (GO:0001964)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)|visual learning (GO:0008542)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Glycine(DB00145)|Halothane(DB01159)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	ATCTGGGCTACGGCCTCCTGG	0.612																																						ENST00000396573.2																			0				NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198						c.(325-327)Gta>Ata		glutamate receptor, ionotropic, N-methyl D-aspartate 2A	Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)						85	81	82					16																	10273944		2197	4300	6497	SO:0001583	missense	0				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	g.chr16:10273944C>T		CCDS10539.1, CCDS45407.1	16p13.2	2012-08-29			ENSG00000183454	ENSG00000183454		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4585	protein-coding gene	gene with protein product		138253		NMDAR2A		9480759	Standard	XM_005255267		Approved	GluN2A	uc002czo.4	Q12879	OTTHUMG00000129721	ENST00000396573.2:c.325G>A	16.37:g.10273944C>T	ENSP00000379818:p.Val109Ile					GRIN2A_ENST00000404927.2_Missense_Mutation_p.V109I|GRIN2A_ENST00000330684.3_Missense_Mutation_p.V109I|GRIN2A_ENST00000562109.1_Missense_Mutation_p.V109I|GRIN2A_ENST00000396575.2_Missense_Mutation_p.V109I	p.V109I	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN			3	634	-			109					O00669|Q17RZ6	Missense_Mutation	SNP	ENST00000396573.2	37	c.325G>A	CCDS10539.1	.	.	.	.	.	.	.	.	.	.	C	7.439	0.640383	0.14386	.	.	ENSG00000183454	ENST00000396573;ENST00000404927;ENST00000330684;ENST00000396575	D;D;D;D	0.87256	-2.23;-2.23;-2.23;-2.23	4.54	3.46	0.39613	Extracellular ligand-binding receptor (1);	0.152333	0.38897	N	0.001532	T	0.67906	0.2943	N	0.04116	-0.275	0.80722	D	1	B;B;B	0.17268	0.021;0.002;0.001	B;B;B	0.17433	0.018;0.004;0.002	T	0.61352	-0.7080	9	.	.	.	.	6.8525	0.24022	0.0:0.747:0.0:0.253	.	109;109;109	Q547U9;Q17RZ6;Q12879	.;.;NMDE1_HUMAN	I	109	ENSP00000379818:V109I;ENSP00000385872:V109I;ENSP00000332549:V109I;ENSP00000379820:V109I	.	V	-	1	0	GRIN2A	10181445	1.000000	0.71417	1.000000	0.80357	0.911000	0.54048	4.091000	0.57700	2.088000	0.63022	0.561000	0.74099	GTA		0.612	GRIN2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251930.3			11	108	0	0	0	1	0	11	108					T	10273944	C	T	10273944	3	4	213	1	0	0	0	0	1	0	0	0	6779	536	19	1	4117	1	GRIN2A	16	10273944	Missense_Mutation	SNP	C	TCGA-HC-7740-01A-11D-2114-08		10273944	80080809	21	9816											
MKL2	57496	broad.mit.edu	37	chr16	14304154	14304154	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	agaacaactagtggaccaggGcatcatgccacgtaagattt	14	8	10	9	1	1	2	1	0	0	2	1	3	1	3	2	2	3	2	2	2	4	3			TCGA-HC-7740-01A-11D-2114-08	TCGA-HC-7740-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7303f9fe-88bb-48ba-b9b4-ebf9e4770c1c	9db864a0-450d-4ef4-83ff-1a869ab80803	g.chr16:14304154G>A	ENST00000341243.5	+	2	176	c.176G>A	c.(175-177)gGc>gAc	p.G59D	MKL2_ENST00000571589.1_Missense_Mutation_p.G70D|MKL2_ENST00000318282.5_Missense_Mutation_p.G70D|MKL2_ENST00000572567.1_Missense_Mutation_p.G59D|MKL2_ENST00000574045.1_Missense_Mutation_p.G70D|MKL2_ENST00000573051.1_Missense_Mutation_p.G19D			Q9ULH7	MKL2_HUMAN	MKL/myocardin-like 2	59					blood vessel morphogenesis (GO:0048514)|cardiac muscle tissue development (GO:0048738)|embryonic organ development (GO:0048568)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|liver development (GO:0001889)|muscle organ development (GO:0007517)|positive regulation of striated muscle tissue development (GO:0045844)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|smooth muscle cell differentiation (GO:0051145)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(6)|liver(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						GTGGACCAGGGCATCATGCCA	0.493																																						ENST00000571589.1																			0				breast(3)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(6)|liver(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						c.(208-210)gGc>gAc		MKL/myocardin-like 2							187	140	156					16																	14304154		2197	4300	6497	SO:0001583	missense	57496				cell differentiation|muscle organ development|positive regulation of striated muscle tissue development|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		identical protein binding|nucleic acid binding|transcription coactivator activity	g.chr16:14304154G>A	AB033069	CCDS32391.1	16p13.12	2012-11-29			ENSG00000186260	ENSG00000186260			29819	protein-coding gene	gene with protein product		609463				10574462	Standard	NM_014048		Approved	MRTF-B, FLJ31823	uc002dcg.3	Q9ULH7	OTTHUMG00000177379	ENST00000341243.5:c.176G>A	16.37:g.14304154G>A	ENSP00000345841:p.Gly59Asp					MKL2_ENST00000318282.5_Missense_Mutation_p.G70D|MKL2_ENST00000574045.1_Missense_Mutation_p.G70D|MKL2_ENST00000572567.1_Missense_Mutation_p.G59D|MKL2_ENST00000573051.1_Missense_Mutation_p.G19D|MKL2_ENST00000341243.5_Missense_Mutation_p.G59D	p.G70D	NM_014048.3	NP_054767.3	Q9ULH7	MKL2_HUMAN			4	381	+			59					A6ND53|B4DGT8|Q68CT1|Q6UB16|Q86WW2|Q8N226	Missense_Mutation	SNP	ENST00000341243.5	37	c.209G>A		.	.	.	.	.	.	.	.	.	.	g	35	5.436380	0.96168	.	.	ENSG00000186260	ENST00000318282;ENST00000389126;ENST00000341243	D;D	0.99855	-7.2;-7.2	5.68	5.68	0.88126	.	0.048575	0.85682	D	0.000000	D	0.99871	0.9939	M	0.85197	2.74	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	D	0.96908	0.9665	10	0.72032	D	0.01	-29.7831	19.1345	0.93420	0.0:0.0:1.0:0.0	.	19;70;59;70	Q9ULH7-2;B4DGT8;Q9ULH7;Q9ULH7-4	.;.;MKL2_HUMAN;.	D	70;59;59	ENSP00000339086:G70D;ENSP00000345841:G59D	ENSP00000339086:G70D	G	+	2	0	MKL2	14211655	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.549000	0.98106	2.838000	0.97847	0.655000	0.94253	GGC		0.493	MKL2-202	KNOWN	basic	protein_coding	protein_coding		NM_014048		9	81	0	0	0	1	0	9	81					A	14304154	G	A	14304154	3	1	213	1	0	0	0	0	1	0	0	0	9602	1203	42	3	215	3	MKL2	16	14304154	Missense_Mutation	SNP	G	TCGA-HC-7740-01A-11D-2114-08	4030210	14304154	76050599	22	9817											
SPAG9	9043	broad.mit.edu	37	chr17	49097614	49097614	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgacttttcttcattttcagCagagccttaaaaaaggacat	13	14	6	8	0	3	2	2	1	1	1	3	3	3	3	1	1	2	1	1	1	3	6			TCGA-HC-7740-01A-11D-2114-08	TCGA-HC-7740-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7303f9fe-88bb-48ba-b9b4-ebf9e4770c1c	9db864a0-450d-4ef4-83ff-1a869ab80803	g.chr17:49097614C>A	ENST00000262013.7	-	8	1205	c.997G>T	c.(997-999)Gct>Tct	p.A333S	SPAG9_ENST00000510283.1_Missense_Mutation_p.A176S|SPAG9_ENST00000505279.1_Missense_Mutation_p.A319S|SPAG9_ENST00000357122.4_Missense_Mutation_p.A319S	NM_001130528.2	NP_001124000.1	O60271	JIP4_HUMAN	sperm associated antigen 9	333					activation of JUN kinase activity (GO:0007257)|muscle cell differentiation (GO:0042692)|negative regulation of protein homodimerization activity (GO:0090074)|positive regulation of cell migration (GO:0030335)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of neuron differentiation (GO:0045666)|protein homooligomerization (GO:0051260)|retrograde transport, endosome to Golgi (GO:0042147)|spermatogenesis (GO:0007283)|striated muscle cell differentiation (GO:0051146)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)				NS(1)|breast(3)|endometrium(3)|kidney(4)|large_intestine(8)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37			BRCA - Breast invasive adenocarcinoma(22;4.24e-07)			TCATTTTCAGCAGAGCCTTAA	0.338																																						ENST00000262013.7																			0				NS(1)|breast(3)|endometrium(3)|kidney(4)|large_intestine(8)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37						c.(997-999)Gct>Tct		sperm associated antigen 9							94	85	88					17																	49097614		2203	4300	6503	SO:0001583	missense	9043				positive regulation of cell migration|positive regulation of muscle cell differentiation|retrograde transport, endosome to Golgi|spermatogenesis	acrosomal vesicle|integral to membrane|perinuclear region of cytoplasm		g.chr17:49097614C>A	AB011088	CCDS11577.1, CCDS45740.1, CCDS58577.1, CCDS58578.1	17q21.33	2013-09-23			ENSG00000008294	ENSG00000008294			14524	protein-coding gene	gene with protein product	"sperm surface protein", "JNK/SAPK-associated protein", "JNK interacting protein", "sperm specific protein", "c-Jun NH2-terminal kinase-associated leucine zipper protein", "Max-binding protein", "JNK-associated leucine-zipper protein", "HLC-4 protein", "lung cancer oncogene 4", "proliferation-inducing gene 6", "cancer/testis antigen 89"	605430				9480848, 11106729	Standard	NM_003971		Approved	HSS, SYD1, KIAA0516, MGC14967, MGC74461, MGC117291, JLP, PHET, HLC4, PIG6, FLJ13450, FLJ14006, FLJ26141, FLJ34602, CT89	uc002itc.3	O60271	OTTHUMG00000162316	ENST00000262013.7:c.997G>T	17.37:g.49097614C>A	ENSP00000262013:p.Ala333Ser					SPAG9_ENST00000505279.1_Missense_Mutation_p.A319S|SPAG9_ENST00000510283.1_Missense_Mutation_p.A176S|SPAG9_ENST00000357122.4_Missense_Mutation_p.A319S	p.A333S	NM_001130528.2	NP_001124000.1	O60271	JIP4_HUMAN	BRCA - Breast invasive adenocarcinoma(22;4.24e-07)		8	1205	-			333					A6H8U5|A8MSX0|B4DHH2|O60905|Q3KQU8|Q3MKM7|Q86WC7|Q86WC8|Q8IZX7|Q96II0|Q9H811	Missense_Mutation	SNP	ENST00000262013.7	37	c.997G>T	CCDS45740.1	.	.	.	.	.	.	.	.	.	.	C	15.15	2.748362	0.49257	.	.	ENSG00000008294	ENST00000262013;ENST00000376407;ENST00000357804;ENST00000357791;ENST00000510283;ENST00000505279;ENST00000357122;ENST00000511795	T;T;T;T	0.22134	1.97;1.98;1.98;1.98	5.37	4.19	0.49359	.	0.869884	0.10406	N	0.678492	T	0.10252	0.0251	N	0.08118	0	0.09310	N	1	B;B;B;B;B;B	0.21147	0.052;0.026;0.001;0.001;0.007;0.003	B;B;B;B;B;B	0.28916	0.046;0.096;0.009;0.004;0.018;0.007	T	0.38779	-0.9645	10	0.09338	T	0.73	-0.8009	6.2208	0.20681	0.0:0.7266:0.0:0.2734	.	319;333;319;333;319;176	O60271-5;O60271-3;O60271-2;O60271;O60271-4;E7ENU2	.;.;.;JIP4_HUMAN;.;.	S	333;89;75;75;176;319;319;3	ENSP00000262013:A333S;ENSP00000423165:A176S;ENSP00000426900:A319S;ENSP00000349636:A319S	ENSP00000262013:A333S	A	-	1	0	SPAG9	46452613	0.992000	0.36948	0.953000	0.39169	0.377000	0.30045	1.572000	0.36461	2.517000	0.84864	0.563000	0.77884	GCT		0.338	SPAG9-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000368543.2	NM_003971		3	28	1	0	0.115264	1	0.115264	3	28					A	49097614	C	A	49097614	3	1	213	1	0	0	0	0	1	0	0	0	14985	710	25	5	3060	5	SPAG9	17	49097614	Missense_Mutation	SNP	C	TCGA-HC-7740-01A-11D-2114-08		49097614	32097596	23	9818											
SMCHD1	23347	broad.mit.edu	37	chr18	2760731	2760731	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaacaaatattctcaacagTgaacaggtttgcttactttt	15	14	5	7	0	1	1	1	1	1	0	2	1	1	1	0	1	5	2	0	1	7	6			TCGA-HC-7740-01A-11D-2114-08	TCGA-HC-7740-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7303f9fe-88bb-48ba-b9b4-ebf9e4770c1c	9db864a0-450d-4ef4-83ff-1a869ab80803	g.chr18:2760731T>G	ENST00000320876.6	+	35	4766	c.4428T>G	c.(4426-4428)agT>agG	p.S1476R	RP11-703M24.5_ENST00000583546.1_RNA|SMCHD1_ENST00000261598.8_Missense_Mutation_p.S1476R	NM_015295.2	NP_056110.2	A6NHR9	SMHD1_HUMAN	structural maintenance of chromosomes flexible hinge domain containing 1	1476					chromosome organization (GO:0051276)|inactivation of X chromosome by DNA methylation (GO:0060821)	Barr body (GO:0001740)	ATP binding (GO:0005524)			NS(3)|breast(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(16)|lung(15)|pancreas(1)	45						TTCTCAACAGTGAACAGGTTT	0.294																																						ENST00000320876.6																			0				NS(3)|breast(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(16)|lung(15)|pancreas(1)	45						c.(4426-4428)agT>agG		structural maintenance of chromosomes flexible hinge domain containing 1							72	71	71					18																	2760731		1814	4067	5881	SO:0001583	missense	23347				chromosome organization		ATP binding	g.chr18:2760731T>G	AB014550	CCDS45822.1	18p11.32	2010-05-12			ENSG00000101596	ENSG00000101596			29090	protein-coding gene	gene with protein product		614982				9734811	Standard	NM_015295		Approved	KIAA0650	uc002klm.4	A6NHR9		ENST00000320876.6:c.4428T>G	18.37:g.2760731T>G	ENSP00000326603:p.Ser1476Arg					SMCHD1_ENST00000261598.8_Missense_Mutation_p.S1476R|RP11-703M24.5_ENST00000583546.1_RNA	p.S1476R	NM_015295.2	NP_056110.2	A6NHR9	SMHD1_HUMAN			35	4766	+			1476					O75141|Q6AHX6|Q6ZTQ8|Q9H6Q2|Q9UG39	Missense_Mutation	SNP	ENST00000320876.6	37	c.4428T>G	CCDS45822.1	.	.	.	.	.	.	.	.	.	.	T	18.21	3.573151	0.65765	.	.	ENSG00000101596	ENST00000320876;ENST00000261598	T;T	0.27402	1.67;1.68	5.11	2.59	0.31030	.	0.082507	0.85682	D	0.000000	T	0.49372	0.1553	M	0.72894	2.215	0.80722	D	1	D	0.65815	0.995	D	0.72982	0.979	T	0.44283	-0.9338	10	0.87932	D	0	-18.102	8.4493	0.32860	0.0:0.2153:0.0:0.7847	.	1476	A6NHR9	SMHD1_HUMAN	R	1476	ENSP00000326603:S1476R;ENSP00000261598:S1476R	ENSP00000261598:S1476R	S	+	3	2	SMCHD1	2750731	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.008000	0.29872	0.330000	0.23485	0.533000	0.62120	AGT		0.294	SMCHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441082.2			3	46	0	0	0	1	0	3	46					G	2760731	T	G	2760731	3	3	213	1	0	0	0	0	1	0	0	0	14788	1693	59	5	4566	5	SMCHD1	18	2760731	Missense_Mutation	SNP	T	TCGA-HC-7740-01A-11D-2114-08		2760731	75316517	24	9819											
RYR1	6261	broad.mit.edu	37	chr19	38934381	38934381	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ctgagctgcctcaccacctcCcgctccatgactgacaagct	8	8	7	18	1	1	3	1	3	0	0	3	3	3	3	5	0	3	3	5	0	1	0			TCGA-HC-7740-01A-11D-2114-08	TCGA-HC-7740-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7303f9fe-88bb-48ba-b9b4-ebf9e4770c1c	9db864a0-450d-4ef4-83ff-1a869ab80803	g.chr19:38934381C>T	ENST00000359596.3	+	5	369	c.369C>T	c.(367-369)tcC>tcT	p.S123S	RYR1_ENST00000360985.3_Silent_p.S123S|RYR1_ENST00000355481.4_Silent_p.S123S			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	123	MIR 1. {ECO:0000255|PROSITE- ProRule:PRU00131}.				calcium ion transport (GO:0006816)|cellular response to caffeine (GO:0071313)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|ossification involved in bone maturation (GO:0043931)|outflow tract morphogenesis (GO:0003151)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|skeletal muscle fiber development (GO:0048741)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|integral component of plasma membrane (GO:0005887)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|voltage-gated calcium channel activity (GO:0005245)			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	TCACCACCTCCCGCTCCATGA	0.647																																						ENST00000355481.4																			0				NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285						c.(367-369)tcC>tcT		ryanodine receptor 1 (skeletal)	Dantrolene(DB01219)						92	75	80					19																	38934381		2203	4300	6503	SO:0001819	synonymous_variant	6261				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr19:38934381C>T	J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"Ion channels / Ryanodine receptors"	10483	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 137"	180901	"central core disease of muscle"	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.369C>T	19.37:g.38934381C>T						RYR1_ENST00000359596.3_Silent_p.S123S|RYR1_ENST00000360985.3_Silent_p.S123S	p.S123S	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		5	500	+	all_cancers(60;7.91e-06)		123			MIR 1.		Q16314|Q16368|Q9NPK1|Q9P1U4	Silent	SNP	ENST00000359596.3	37	c.369C>T	CCDS33011.1																																																																																				0.647	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1			9	93	0	0	0	1	0	9	93					T	38934381	C	T	38934381	2	4	213	1	0	0	0	0	0	0	0	1	13768	610	22	3		3	RYR1	19	38934381	Silent	SNP	C	TCGA-HC-7740-01A-11D-2114-08		38934381	20194602	25	9820											
ZHX3	23051	broad.mit.edu	37	chr20	39832183	39832183	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tttgaacacacagtgttaatGggtgccacacctggctgctt	9	12	10	10	0	0	1	0	1	0	0	0	1	0	1	2	2	3	3	2	2	2	3			TCGA-HC-7740-01A-11D-2114-08	TCGA-HC-7740-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7303f9fe-88bb-48ba-b9b4-ebf9e4770c1c	9db864a0-450d-4ef4-83ff-1a869ab80803	g.chr20:39832183G>A	ENST00000309060.3	-	4	1789	c.1374C>T	c.(1372-1374)ccC>ccT	p.P458P	ZHX3_ENST00000540170.1_Silent_p.P458P|ZHX3_ENST00000557816.1_Intron|ZHX3_ENST00000432768.2_Silent_p.P458P|ZHX3_ENST00000558993.1_Intron|ZHX3_ENST00000559234.1_Silent_p.P458P|ZHX3_ENST00000544979.2_Silent_p.P458P|ZHX3_ENST00000560361.1_Silent_p.P458P			Q9H4I2	ZHX3_HUMAN	zinc fingers and homeoboxes 3	458	Required for homodimerization and interaction with NFYA.|Required for repressor activity.				cell differentiation (GO:0030154)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of osteoblast differentiation (GO:0045669)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			endometrium(2)|kidney(5)|large_intestine(8)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	31		Myeloproliferative disorder(115;0.00425)				CAGTGTTAATGGGTGCCACAC	0.572																																						ENST00000309060.3																			0				endometrium(2)|kidney(5)|large_intestine(8)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	31						c.(1372-1374)ccC>ccT		zinc fingers and homeoboxes 3							62	50	54					20																	39832183		2203	4300	6503	SO:0001819	synonymous_variant	23051				negative regulation of transcription, DNA-dependent	cytoplasm|nucleolus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr20:39832183G>A	AB007855	CCDS13315.1	20q12	2012-03-09	2004-01-29	2004-01-30	ENSG00000174306	ENSG00000174306		"Zinc fingers, C2H2-type", "Homeoboxes / ZF class"	15935	protein-coding gene	gene with protein product		609598	"triple homeobox 1"	TIX1		9455477	Standard	XM_005260343		Approved	KIAA0395	uc002xjs.1	Q9H4I2	OTTHUMG00000032481	ENST00000309060.3:c.1374C>T	20.37:g.39832183G>A						ZHX3_ENST00000559234.1_Silent_p.P458P|ZHX3_ENST00000558993.1_Intron|ZHX3_ENST00000540170.1_Silent_p.P458P|ZHX3_ENST00000557816.1_Intron|ZHX3_ENST00000544979.2_Silent_p.P458P|ZHX3_ENST00000432768.2_Silent_p.P458P|ZHX3_ENST00000560361.1_Silent_p.P458P	p.P458P			Q9H4I2	ZHX3_HUMAN			4	1789	-		Myeloproliferative disorder(115;0.00425)	458			Required for homodimerization and interaction with NFYA.|Required for repressor activity.		E1P5W5|F5H820|O43145|Q6NUJ7	Silent	SNP	ENST00000309060.3	37	c.1374C>T	CCDS13315.1	.	.	.	.	.	.	.	.	.	.	G	5.698	0.313244	0.10789	.	.	ENSG00000174306	ENST00000421422	.	.	.	6.07	-2.55	0.06288	.	.	.	.	.	T	0.38799	0.1054	.	.	.	0.50632	D	0.999884	.	.	.	.	.	.	T	0.35425	-0.9789	4	.	.	.	-21.0808	1.4327	0.02337	0.4268:0.1899:0.2219:0.1614	.	.	.	.	Y	167	.	.	H	-	1	0	ZHX3	39265597	0.630000	0.27155	0.990000	0.47175	0.980000	0.70556	-0.083000	0.11286	-0.035000	0.13691	-0.136000	0.14681	CAT		0.572	ZHX3-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079262.3	NM_015035		10	57	0	0	0	1	0	10	57					A	39832183	G	A	39832183	2	1	213	1	0	0	0	0	0	0	0	1	17674	1335	47	3		3	ZHX3	20	39832183	Silent	SNP	G	TCGA-HC-7740-01A-11D-2114-08		39832183	23193337	26	9821											
IL1RAPL2	26280	broad.mit.edu	37	chrX	104728369	104728369	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatcagccaagtgttatagaTgtccagctgggtaagtcccc	11	10	10	10	0	1	1	1	0	0	1	3	1	3	1	4	1	2	3	4	1	5	3			TCGA-HC-7740-01A-11D-2114-08	TCGA-HC-7740-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7303f9fe-88bb-48ba-b9b4-ebf9e4770c1c	9db864a0-450d-4ef4-83ff-1a869ab80803	g.chrX:104728369T>A	ENST00000372582.1	+	6	1518	c.762T>A	c.(760-762)gaT>gaA	p.D254E	IL1RAPL2_ENST00000344799.4_Missense_Mutation_p.D254E	NM_017416.1	NP_059112.1	Q9NP60	IRPL2_HUMAN	interleukin 1 receptor accessory protein-like 2	254	Ig-like C2-type 3.				central nervous system development (GO:0007417)|cytokine-mediated signaling pathway (GO:0019221)	integral component of membrane (GO:0016021)	interleukin-1 receptor activity (GO:0004908)|interleukin-1, Type II, blocking receptor activity (GO:0004910)			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(23)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						GTGTTATAGATGTCCAGCTGG	0.423																																						ENST00000372582.1																			0				breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(23)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						c.(760-762)gaT>gaA		interleukin 1 receptor accessory protein-like 2							106	93	98					X																	104728369		2203	4300	6503	SO:0001583	missense	26280				central nervous system development|innate immune response	integral to membrane	interleukin-1, Type II, blocking receptor activity	g.chrX:104728369T>A	AF181285	CCDS14517.1	Xq22	2013-01-11			ENSG00000189108	ENSG00000189108		"Interleukins and interleukin receptors", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5997	protein-coding gene	gene with protein product		300277				10757639	Standard	NM_017416		Approved	IL-1R9, TIGIRR-1, IL1RAPL-2, IL1R9	uc004elz.1	Q9NP60	OTTHUMG00000022141	ENST00000372582.1:c.762T>A	X.37:g.104728369T>A	ENSP00000361663:p.Asp254Glu					IL1RAPL2_ENST00000344799.4_Missense_Mutation_p.D254E	p.D254E	NM_017416.1	NP_059112.1	Q9NP60	IRPL2_HUMAN			6	1518	+			254			Ig-like C2-type 3.		Q2M3U3|Q9NZN0	Missense_Mutation	SNP	ENST00000372582.1	37	c.762T>A	CCDS14517.1	.	.	.	.	.	.	.	.	.	.	T	3.349	-0.132896	0.06711	.	.	ENSG00000189108	ENST00000372582;ENST00000344799	T;T	0.75938	-0.98;-0.98	5.88	4.69	0.59074	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.186757	0.38164	N	0.001796	T	0.54382	0.1855	N	0.17474	0.49	0.80722	D	1	B	0.23591	0.088	B	0.27500	0.08	T	0.46707	-0.9172	10	0.02654	T	1	.	10.6795	0.45807	0.1452:0.0:0.0:0.8548	.	254	Q9NP60	IRPL2_HUMAN	E	254	ENSP00000361663:D254E;ENSP00000344976:D254E	ENSP00000344976:D254E	D	+	3	2	IL1RAPL2	104615025	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.206000	0.58473	0.803000	0.34113	0.486000	0.48141	GAT		0.423	IL1RAPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057785.1	NM_017416		16	51	0	0	0	1	0	16	51					A	104728369	T	A	104728369	3	1	213	1	0	0	0	0	1	0	0	0	7662	1461	51	5	780	5	IL1RAPL2	23	104728369	Missense_Mutation	SNP	T	TCGA-HC-7740-01A-11D-2114-08		104728369	50542191	27	9822											
DLGAP3	58512	broad.mit.edu	37	chr1	35370062	35370062	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aggcaaggcagcggccttccGacccgcccgagcgccccttg	6	4	13	18	5	0	0	0	0	0	0	1	2	1	0	6	3	2	2	6	3	1	2	rs147968723		TCGA-HC-7742-01A-11D-2114-08	TCGA-HC-7742-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b134ed52-c6fa-45eb-a4af-1d84cbf013d8	c8565d71-27c7-400a-bd9b-97fd79a7e8e7	g.chr1:35370062G>A	ENST00000373347.1	-	3	1191	c.923C>T	c.(922-924)tCg>tTg	p.S308L	DLGAP3_ENST00000495979.1_5'Flank|DLGAP3_ENST00000235180.4_Missense_Mutation_p.S308L			O95886	DLGP3_HUMAN	discs, large (Drosophila) homolog-associated protein 3	308					cell-cell signaling (GO:0007267)	cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)	beta-amyloid binding (GO:0001540)			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|prostate(3)|skin(3)|urinary_tract(1)	46		Myeloproliferative disorder(586;0.0393)				GCGGCCTTCCGACCCGCCCGA	0.667																																						ENST00000373347.1																			0				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|prostate(3)|skin(3)|urinary_tract(1)	46						c.(922-924)tCg>tTg		discs, large (Drosophila) homolog-associated protein 3		G	LEU/SER	0,4406		0,0,2203	44	47	46		923	4.5	1	1	dbSNP_134	46	1,8599		0,1,4299	no	missense	DLGAP3	NM_001080418.1	145	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	308/980	35370062	1,13005	2203	4300	6503	SO:0001583	missense	58512				cell-cell signaling	cell junction|postsynaptic density|postsynaptic membrane		g.chr1:35370062G>A	AF131778	CCDS30670.1	1p35.3-p34.1	2008-02-05			ENSG00000116544	ENSG00000116544			30368	protein-coding gene	gene with protein product		611413				8619474, 9110174	Standard	NM_001080418		Approved	SAPAP3, DAP3	uc001byc.3	O95886	OTTHUMG00000004049	ENST00000373347.1:c.923C>T	1.37:g.35370062G>A	ENSP00000362444:p.Ser308Leu					DLGAP3_ENST00000235180.4_Missense_Mutation_p.S308L	p.S308L			O95886	DLGP3_HUMAN			3	1191	-		Myeloproliferative disorder(586;0.0393)	308					Q5TDD5|Q9H3X7	Missense_Mutation	SNP	ENST00000373347.1	37	c.923C>T	CCDS30670.1	.	.	.	.	.	.	.	.	.	.	G	12.43	1.936986	0.34189	0.0	1.16E-4	ENSG00000116544	ENST00000373347;ENST00000235180	T;T	0.26518	1.73;1.73	4.49	4.49	0.54785	.	0.758341	0.11813	N	0.526959	T	0.20414	0.0491	L	0.29908	0.895	0.23304	N	0.997947	B	0.26318	0.146	B	0.17098	0.017	T	0.09818	-1.0657	10	0.66056	D	0.02	-1.0832	12.2235	0.54447	0.0:0.3173:0.6827:0.0	.	308	O95886	DLGP3_HUMAN	L	308	ENSP00000362444:S308L;ENSP00000235180:S308L	ENSP00000235180:S308L	S	-	2	0	DLGAP3	35142649	0.998000	0.40836	0.970000	0.41538	0.964000	0.63967	3.666000	0.54540	2.492000	0.84095	0.655000	0.94253	TCG		0.667	DLGAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011554.1	NM_021234		25	67	0	0	0	1	0	25	67					A	35370062	G	A	35370062	3	1	214	1	0	0	0	0	1	0	0	0	4561	1059	37	2	2056	2	DLGAP3	1	35370062	Missense_Mutation	SNP	G	TCGA-HC-7742-01A-11D-2114-08		35370062	213880559	1	9823											
C1orf51	148523	broad.mit.edu	37	chr1	150259209	150259209	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	actatctggagagggtcctcGttgctacagtttgccagtaa	9	12	11	9	1	1	1	0	0	1	1	3	2	2	1	2	2	3	4	2	2	3	5			TCGA-HC-7742-01A-11D-2114-08	TCGA-HC-7742-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b134ed52-c6fa-45eb-a4af-1d84cbf013d8	c8565d71-27c7-400a-bd9b-97fd79a7e8e7	g.chr1:150259209G>A	ENST00000290363.5	+	5	1450	c.1001G>A	c.(1000-1002)cGt>cAt	p.R334H	C1orf51_ENST00000369094.1_Missense_Mutation_p.R246H|C1orf51_ENST00000369095.1_Missense_Mutation_p.R334H	NM_144697.2	NP_653298.1	Q8N365	CIART_HUMAN		334					circadian regulation of gene expression (GO:0032922)|locomotor rhythm (GO:0045475)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|E-box binding (GO:0070888)			endometrium(3)|large_intestine(2)|lung(3)|urinary_tract(2)	10	Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			GAGGGTCCTCGTTGCTACAGT	0.552																																						ENST00000290363.5																			0				endometrium(3)|large_intestine(2)|lung(3)|urinary_tract(2)	10						c.(1000-1002)cGt>cAt		chromosome 1 open reading frame 51							157	137	144					1																	150259209		2203	4300	6503	SO:0001583	missense	148523							g.chr1:150259209G>A																												ENST00000290363.5:c.1001G>A	1.37:g.150259209G>A	ENSP00000290363:p.Arg334His					C1orf51_ENST00000369094.1_Missense_Mutation_p.R246H|C1orf51_ENST00000369095.1_Missense_Mutation_p.R334H	p.R334H	NM_144697.2	NP_653298.1	Q8N365	CA051_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		5	1450	+	Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		334					B2RD43|D3DV01|Q8N795|Q96MG6	Missense_Mutation	SNP	ENST00000290363.5	37	c.1001G>A	CCDS949.1	.	.	.	.	.	.	.	.	.	.	G	10.50	1.367987	0.24771	.	.	ENSG00000159208	ENST00000369095;ENST00000369094;ENST00000290363	.	.	.	5.36	1.18	0.20946	.	0.530420	0.19472	N	0.113436	T	0.04952	0.0133	N	0.11560	0.145	0.09310	N	1	B	0.15141	0.012	B	0.12837	0.008	T	0.42241	-0.9463	8	.	.	.	-16.571	5.0626	0.14564	0.2733:0.1481:0.5785:0.0	.	334	Q8N365	CA051_HUMAN	H	334;246;334	.	.	R	+	2	0	C1orf51	148525833	0.000000	0.05858	0.024000	0.17045	0.893000	0.52053	0.316000	0.19469	0.061000	0.16311	0.561000	0.74099	CGT		0.552	C1orf51-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000035058.1			47	122	0	0	0	1	0	47	122					A	150259209	G	A	150259209	3	1	214	1	0	0	0	0	1	0	0	0	2043	1145	40	1	1019	1	C1orf51	1	150259209	Missense_Mutation	SNP	G	TCGA-HC-7742-01A-11D-2114-08	114889147	150259209	98991412	2	9824											
ATP8B2	57198	broad.mit.edu	37	chr1	154303605	154303605	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaccatcacagctgttaaaGatgccactgatgactatgtg	12	11	8	10	0	2	3	2	2	0	1	2	3	2	3	2	0	2	2	2	0	3	2			TCGA-HC-7742-01A-11D-2114-08	TCGA-HC-7742-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b134ed52-c6fa-45eb-a4af-1d84cbf013d8	c8565d71-27c7-400a-bd9b-97fd79a7e8e7	g.chr1:154303605G>T	ENST00000368489.3	+	5	385	c.385G>T	c.(385-387)Gat>Tat	p.D129Y	ATP8B2_ENST00000426445.1_3'UTR|ATP8B2_ENST00000368487.3_Missense_Mutation_p.D96Y|ATP8B2_ENST00000341822.2_Missense_Mutation_p.D115Y	NM_020452.3	NP_065185.1	P98198	AT8B2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 2	115					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)		IL6R/ATP8B2(2)	breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			AGCTGTTAAAGATGCCACTGA	0.488																																						ENST00000368489.3																		IL6R/ATP8B2(2)	0				breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	51						c.(385-387)Gat>Tat		ATPase, aminophospholipid transporter, class I, type 8B, member 2							161	132	141					1																	154303605		2203	4300	6503	SO:0001583	missense	57198				ATP biosynthetic process	plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr1:154303605G>T	AB032963	CCDS1066.1, CCDS41405.1	1q21.3	2012-03-09	2012-03-09		ENSG00000143515	ENSG00000143515		"ATPases / P-type"	13534	protein-coding gene	gene with protein product		605867	"ATPase, class I, type 8B, member 2"			10574461, 11015572	Standard	NM_020452		Approved	ATPID, KIAA1137	uc001fex.3	P98198	OTTHUMG00000035979	ENST00000368489.3:c.385G>T	1.37:g.154303605G>T	ENSP00000357475:p.Asp129Tyr					ATP8B2_ENST00000341822.2_Missense_Mutation_p.D115Y|ATP8B2_ENST00000368487.3_Missense_Mutation_p.D96Y|ATP8B2_ENST00000426445.1_3'UTR	p.D129Y	NM_020452.3	NP_065185.1	P98198	AT8B2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.185)		5	385	+	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		115					B4E3P4|Q6NT69|Q7Z486|Q96I43|Q96NQ7	Missense_Mutation	SNP	ENST00000368489.3	37	c.385G>T	CCDS1066.1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.441649	0.83993	.	.	ENSG00000143515	ENST00000368487;ENST00000368489;ENST00000341822	D;D;D	0.84589	-1.87;-1.87;-1.87	4.66	4.66	0.58398	ATPase, P-type, ATPase-associated domain (1);ATPase,  P-type, cytoplasmic transduction domain A (1);	0.000000	0.85682	D	0.000000	D	0.95382	0.8501	H	0.98542	4.26	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;0.999	D	0.97000	0.9728	10	0.87932	D	0	.	17.0785	0.86592	0.0:0.0:1.0:0.0	.	115;129;96	P98198;P98198-3;P98198-4	AT8B2_HUMAN;.;.	Y	96;129;115	ENSP00000357472:D96Y;ENSP00000357475:D129Y;ENSP00000340448:D115Y	ENSP00000340448:D115Y	D	+	1	0	ATP8B2	152570229	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.601000	0.98297	2.573000	0.86826	0.561000	0.74099	GAT		0.488	ATP8B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087658.2	NM_020452		21	40	1	0	3.5997e-14	1	3.933e-14	21	40					T	154303605	G	T	154303605	3	4	214	1	0	0	0	0	1	0	0	0	1195	942	33	5	403	5	ATP8B2	1	154303605	Missense_Mutation	SNP	G	TCGA-HC-7742-01A-11D-2114-08	4044396	154303605	94947016	3	9825											
XCL1	6375	broad.mit.edu	37	chr1	168549329	168549329	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	agtgaagtctcagataagagGacctgtgtgagcctcactac	12	9	11	9	0	2	4	2	2	1	2	3	5	2	5	2	1	2	0	2	1	3	2			TCGA-HC-7742-01A-11D-2114-08	TCGA-HC-7742-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b134ed52-c6fa-45eb-a4af-1d84cbf013d8	c8565d71-27c7-400a-bd9b-97fd79a7e8e7	g.chr1:168549329G>C	ENST00000367818.3	+	2	255	c.90G>C	c.(88-90)agG>agC	p.R30S		NM_002995.2	NP_002986.1	P47992	XCL1_HUMAN	chemokine (C motif) ligand 1	30					cell-cell signaling (GO:0007267)|cellular response to interleukin-4 (GO:0071353)|cellular response to transforming growth factor beta stimulus (GO:0071560)|immune response (GO:0006955)|mature natural killer cell chemotaxis (GO:0035782)|negative regulation of CD4-positive, alpha-beta T cell proliferation (GO:2000562)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of T cell cytokine production (GO:0002725)|negative regulation of T-helper 1 cell activation (GO:2000518)|negative regulation of T-helper 1 type immune response (GO:0002826)|negative regulation of transcription, DNA-templated (GO:0045892)|neutrophil chemotaxis (GO:0030593)|positive regulation of B cell chemotaxis (GO:2000538)|positive regulation of CD4-positive, alpha-beta T cell proliferation (GO:2000563)|positive regulation of CD8-positive, alpha-beta T cell proliferation (GO:2000566)|positive regulation of granzyme A production (GO:2000513)|positive regulation of granzyme B production (GO:0071663)|positive regulation of immunoglobulin production in mucosal tissue (GO:2000558)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of leukocyte chemotaxis (GO:0002690)|positive regulation of natural killer cell chemotaxis (GO:2000503)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of T cell chemotaxis (GO:0010820)|positive regulation of T cell cytokine production (GO:0002726)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|positive regulation of T-helper 1 cell cytokine production (GO:2000556)|positive regulation of T-helper 2 cell cytokine production (GO:2000553)|positive regulation of thymocyte migration (GO:2000412)|positive regulation of transforming growth factor beta production (GO:0071636)|regulation of inflammatory response (GO:0050727)|release of sequestered calcium ion into cytosol (GO:0051209)|response to virus (GO:0009615)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	chemokine activity (GO:0008009)|chemokine receptor binding (GO:0042379)|protein homodimerization activity (GO:0042803)			kidney(2)|lung(7)|upper_aerodigestive_tract(1)	10	all_hematologic(923;0.208)					CAGATAAGAGGACCTGTGTGA	0.458																																						ENST00000367818.3																			0				kidney(2)|lung(7)|upper_aerodigestive_tract(1)	10						c.(88-90)agG>agC		chemokine (C motif) ligand 1							137	138	137					1																	168549329		2203	4300	6503	SO:0001583	missense	6375				CD4-positive, alpha-beta T cell proliferation|CD8-positive, alpha-beta T cell proliferation|cell-cell signaling|cellular response to interleukin-4|cellular response to transforming growth factor beta stimulus|immunoglobulin production in mucosal tissue|lymphocyte chemotaxis|negative regulation of interferon-gamma production|negative regulation of interleukin-2 production|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of T cell cytokine production|negative regulation of T-helper 1 cell activation|negative regulation of transcription, DNA-dependent|neutrophil chemotaxis|positive regulation of activated T cell proliferation|positive regulation of B cell chemotaxis|positive regulation of granzyme A production|positive regulation of granzyme B production|positive regulation of interleukin-10 production|positive regulation of natural killer cell chemotaxis|positive regulation of neutrophil chemotaxis|positive regulation of release of sequestered calcium ion into cytosol|positive regulation of T cell chemotaxis|positive regulation of T cell cytokine production|positive regulation of T cell mediated cytotoxicity|positive regulation of thymocyte migration|positive regulation of transforming growth factor-beta production|regulation of inflammatory response|release of sequestered calcium ion into cytosol|response to virus|T-helper 1 cell cytokine production|T-helper 2 cell cytokine production	extracellular space	chemokine activity|protein homodimerization activity	g.chr1:168549329G>C	D43768	CCDS1274.1	1q24.2	2014-01-30	2002-08-22	2002-08-23	ENSG00000143184	ENSG00000143184		"Endogenous ligands"	10645	protein-coding gene	gene with protein product		600250	"small inducible cytokine subfamily C, member 1 (lymphotactin)"	LTN, SCYC1		7602097, 7875320	Standard	NM_002995		Approved	LPTN, ATAC, SCM-1a, SCM-1, lymphotactin	uc001gfo.2	P47992	OTTHUMG00000034548	ENST00000367818.3:c.90G>C	1.37:g.168549329G>C	ENSP00000356792:p.Arg30Ser						p.R30S	NM_002995.2	NP_002986.1	P47992	XCL1_HUMAN			2	255	+	all_hematologic(923;0.208)		30					Q52MA8	Missense_Mutation	SNP	ENST00000367818.3	37	c.90G>C	CCDS1274.1	.	.	.	.	.	.	.	.	.	.	G	0.011	-1.717673	0.00706	.	.	ENSG00000143184	ENST00000367818	T	0.04015	3.73	4.36	-7.71	0.01254	Chemokine interleukin-8-like domain (3);	0.673392	0.14425	N	0.320416	T	0.00241	0.0007	N	0.00471	-1.455	0.20703	N	0.99986	B	0.06786	0.001	B	0.04013	0.001	T	0.36187	-0.9758	9	0.02654	T	1	-4.923	1.4394	0.02350	0.2343:0.3592:0.2408:0.1656	.	30	P47992	XCL1_HUMAN	S	30	ENSP00000356792:R30S	ENSP00000356792:R30S	R	+	3	2	XCL1	166815953	0.000000	0.05858	0.000000	0.03702	0.382000	0.30200	-1.642000	0.02006	-1.268000	0.02439	-0.256000	0.11100	AGG		0.458	XCL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083612.1	NM_002995		19	71	0	0	0	1	0	19	71					C	168549329	G	C	168549329	3	2	214	1	0	0	0	0	1	0	0	0	17420	1165	41	5	96	5	XCL1	1	168549329	Missense_Mutation	SNP	G	TCGA-HC-7742-01A-11D-2114-08	14245724	168549329	80701292	4	9826											
LAMC2	3918	broad.mit.edu	37	chr1	183207488	183207488	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caatcttgctaaaagcagagCacaagaagcactgagtatgg	16	7	10	8	0	1	3	0	1	1	2	1	3	1	3	0	1	4	5	0	1	6	3			TCGA-HC-7742-01A-11D-2114-08	TCGA-HC-7742-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b134ed52-c6fa-45eb-a4af-1d84cbf013d8	c8565d71-27c7-400a-bd9b-97fd79a7e8e7	g.chr1:183207488C>T	ENST00000264144.4	+	19	2866	c.2801C>T	c.(2800-2802)gCa>gTa	p.A934V	LAMC2_ENST00000493293.1_Missense_Mutation_p.A934V	NM_005562.2	NP_005553.2	Q13753	LAMC2_HUMAN	laminin, gamma 2	934	Domain II and I.				cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	cell cortex (GO:0005938)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|laminin-2 complex (GO:0005607)|laminin-5 complex (GO:0005610)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	heparin binding (GO:0008201)			breast(2)|endometrium(6)|kidney(8)|large_intestine(11)|lung(18)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55						AAAAGCAGAGCACAAGAAGCA	0.418																																						ENST00000264144.4																			0				breast(2)|endometrium(6)|kidney(8)|large_intestine(11)|lung(18)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55						c.(2800-2802)gCa>gTa		laminin, gamma 2							149	138	141					1																	183207488		2203	4300	6503	SO:0001583	missense	3918				cell adhesion|epidermis development|hemidesmosome assembly		heparin binding	g.chr1:183207488C>T	Z15008	CCDS1352.1, CCDS44285.1	1q25-q31	2013-03-01	2002-08-29		ENSG00000058085	ENSG00000058085		"Laminins"	6493	protein-coding gene	gene with protein product		150292	"laminin, gamma 2 (nicein (100kD), kalinin (105kD), BM600 (100kD), Herlitz junctional epidermolysis bullosa))"	EBR2, LAMB2T, LAMNB2, EBR2A		1383240	Standard	NM_005562		Approved	nicein-100kDa, kalinin-105kDa, BM600-100kDa	uc001gqa.2	Q13753	OTTHUMG00000035520	ENST00000264144.4:c.2801C>T	1.37:g.183207488C>T	ENSP00000264144:p.Ala934Val					LAMC2_ENST00000493293.1_Missense_Mutation_p.A934V	p.A934V	NM_005562.2	NP_005553.2	Q13753	LAMC2_HUMAN			19	2866	+			934			Domain II and I.		Q02536|Q02537|Q13752|Q14941|Q14DF7|Q2M1N2|Q5VYE8	Missense_Mutation	SNP	ENST00000264144.4	37	c.2801C>T	CCDS1352.1	.	.	.	.	.	.	.	.	.	.	C	28.9	4.960847	0.92791	.	.	ENSG00000058085	ENST00000493293;ENST00000537180;ENST00000264144	T;T	0.25579	1.9;1.79	5.19	5.19	0.71726	.	0.000000	0.64402	D	0.000001	T	0.54581	0.1867	M	0.83953	2.67	0.58432	D	0.999992	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.997;0.997;0.999	T	0.54728	-0.8250	10	0.37606	T	0.19	.	16.847	0.85983	0.0:1.0:0.0:0.0	.	934;934;934	Q2M1N2;Q13753;Q13753-2	.;LAMC2_HUMAN;.	V	934	ENSP00000432063:A934V;ENSP00000264144:A934V	ENSP00000264144:A934V	A	+	2	0	LAMC2	181474111	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	5.168000	0.64978	2.558000	0.86282	0.655000	0.94253	GCA		0.418	LAMC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086258.1	NM_005562		37	109	0	0	0	1	0	37	109					T	183207488	C	T	183207488	3	4	214	1	0	0	0	0	1	0	0	0	8615	710	25	3	2875	3	LAMC2	1	183207488	Missense_Mutation	SNP	C	TCGA-HC-7742-01A-11D-2114-08	14658159	183207488	66043133	5	9827											
SMG7	9887	broad.mit.edu	37	chr1	183515266	183515267	+	Frame_Shift_Ins	INS	-	-	A																															aatgcagcagcagcctctagINSaaaaaaaaatgaagcctttt																										TCGA-HC-7742-01A-11D-2114-08	TCGA-HC-7742-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b134ed52-c6fa-45eb-a4af-1d84cbf013d8	c8565d71-27c7-400a-bd9b-97fd79a7e8e7	g.chr1:183515266_183515267insA	ENST00000347615.2	+	17	2655_2656	c.2536_2537insA	c.(2536-2538)gaafs	p.E846fs	SMG7_ENST00000456731.2_Frame_Shift_Ins_p.E758fs|SMG7_ENST00000508461.1_Frame_Shift_Ins_p.E804fs|SMG7_ENST00000367537.3_Frame_Shift_Ins_p.E829fs|SMG7_ENST00000507469.1_Frame_Shift_Ins_p.E800fs|SMG7_ENST00000515829.2_Frame_Shift_Ins_p.E800fs	NM_173156.2	NP_775179.1	Q92540	SMG7_HUMAN	SMG7 nonsense mediated mRNA decay factor	846					gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of dephosphorylation (GO:0035303)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)	protein phosphatase 2A binding (GO:0051721)	p.?(1)		breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(16)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						GCAGCCTCTAGAAAAAAAAATG	0.45																																						ENST00000367537.3																			1	Unknown(1)	p.?(1)	skin(1)	breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(16)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						c.(2485-2487)aaafs		SMG7 nonsense mediated mRNA decay factor																																				SO:0001589	frameshift_variant	9887				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation	cytoplasm|intermediate filament cytoskeleton|nucleus	protein phosphatase 2A binding	g.chr1:183515266_183515267insA	D87437	CCDS1355.1, CCDS41445.1, CCDS41445.2, CCDS53444.1, CCDS53445.1	1q25	2013-07-02	2013-07-02	2006-02-16	ENSG00000116698	ENSG00000116698			16792	protein-coding gene	gene with protein product	"EST1 telomerase component homolog C (S. cerevisiae)"	610964	"chromosome 1 open reading frame 16", "smg-7 homolog, nonsense mediated mRNA decay factor (C. elegans)"	C1orf16		14636577, 15721257	Standard	NM_173156		Approved	KIAA0250, EST1C, SGA56M, SMG-7	uc001gqf.3	Q92540	OTTHUMG00000035221	ENST00000347615.2:c.2545dupA	1.37:g.183515275_183515275dupA	ENSP00000340766:p.Glu846fs					SMG7_ENST00000515829.2_Frame_Shift_Ins_p.K800fs|SMG7_ENST00000347615.2_Frame_Shift_Ins_p.K846fs|SMG7_ENST00000456731.2_Frame_Shift_Ins_p.K758fs|SMG7_ENST00000507469.1_Frame_Shift_Ins_p.K800fs|SMG7_ENST00000508461.1_Frame_Shift_Ins_p.K804fs	p.K829fs			Q92540	SMG7_HUMAN			18	2680_2681	+			846			Gln/Pro-rich.		B4DRB2|E9PCI0|E9PEH2|Q5T1Q0|Q6PIE0|Q7Z7H9|Q8IXC1|Q8IXC2	Frame_Shift_Ins	INS	ENST00000347615.2	37	c.2485_2486insA	CCDS1355.1																																																																																				0.45	SMG7-002	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000085432.1	NM_014837		7	60						7	60	---	---	---	---	A	183515267	-	A	183515266	7	5	214	1	0	1	1	0	0	0	0	0	14798	943	33	0	2602	0	SMG7	1	183515266	Frame_Shift_Ins	INS	-	TCGA-HC-7742-01A-11D-2114-08	307778	183515266	65735355	6	9828											
RYR2	6262	broad.mit.edu	37	chr1	237982395	237982395	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggagggatcggggatgaaatCgaagacccagcaggagatga	14	4	17	6	2	0	4	0	2	0	2	2	9	0	7	1	5	1	1	1	5	2	0	rs375456172		TCGA-HC-7742-01A-11D-2114-08	TCGA-HC-7742-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b134ed52-c6fa-45eb-a4af-1d84cbf013d8	c8565d71-27c7-400a-bd9b-97fd79a7e8e7	g.chr1:237982395C>T	ENST00000366574.2	+	101	14810	c.14493C>T	c.(14491-14493)atC>atT	p.I4831I	RYR2_ENST00000360064.6_Silent_p.I4837I|RYR2_ENST00000542537.1_Silent_p.I4815I	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4831					BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)	p.I4829I(2)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GGGATGAAATCGAAGACCCAG	0.413																																						ENST00000366574.2																			2	Substitution - coding silent(2)	p.I4829I(2)	large_intestine(2)	NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586						c.(14491-14493)atC>atT		ryanodine receptor 2 (cardiac)		C		1,3871		0,1,1935	214	214	214		14493	-4.7	0.9	1		214	0,8270		0,0,4135	no	coding-synonymous	RYR2	NM_001035.2		0,1,6070	TT,TC,CC		0.0,0.0258,0.0082		4831/4968	237982395	1,12141	1936	4135	6071	SO:0001819	synonymous_variant	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237982395C>T	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"Ion channels / Ryanodine receptors", "EF-hand domain containing"	10484	protein-coding gene	gene with protein product		180902	"arrhythmogenic right ventricular dysplasia 2"	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.14493C>T	1.37:g.237982395C>T						RYR2_ENST00000360064.6_Silent_p.I4837I|RYR2_ENST00000542537.1_Silent_p.I4815I	p.I4831I	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		101	14810	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	4831					Q15411|Q546N8|Q5T3P2	Silent	SNP	ENST00000366574.2	37	c.14493C>T	CCDS55691.1																																																																																				0.413	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		24	41	0	0	0	1	0	24	41					T	237982395	C	T	237982395	2	4	214	1	0	0	0	0	0	0	0	1	13769	874	31	2		2	RYR2	1	237982395	Silent	SNP	C	TCGA-HC-7742-01A-11D-2114-08	54467129	237982395	11268226	7	9829											
APOB	338	broad.mit.edu	37	chr2	21252827	21252827	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagtcatcttgaatctgttcCatcaggtaattagcaatgtc	11	14	7	9	0	4	1	2	1	2	0	6	1	5	1	1	1	1	3	1	1	4	4			TCGA-HC-7742-01A-11D-2114-08	TCGA-HC-7742-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b134ed52-c6fa-45eb-a4af-1d84cbf013d8	c8565d71-27c7-400a-bd9b-97fd79a7e8e7	g.chr2:21252827C>T	ENST00000233242.1	-	11	1540	c.1413G>A	c.(1411-1413)atG>atA	p.M471I	APOB_ENST00000399256.4_Missense_Mutation_p.M471I	NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	471	Vitellogenin. {ECO:0000255|PROSITE- ProRule:PRU00557}.				artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GAATCTGTTCCATCAGGTAAT	0.428																																						ENST00000233242.1																			0				NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305						c.(1411-1413)atG>atA		apolipoprotein B	Atorvastatin(DB01076)						172	172	172					2																	21252827		2203	4300	6503	SO:0001583	missense	338				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	g.chr2:21252827C>T	M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"Apolipoproteins"	603	protein-coding gene	gene with protein product		107730	"apolipoprotein B (including Ag(x) antigen)"				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.1413G>A	2.37:g.21252827C>T	ENSP00000233242:p.Met471Ile					APOB_ENST00000399256.4_Missense_Mutation_p.M471I	p.M471I	NM_000384.2	NP_000375.2	P04114	APOB_HUMAN			11	1540	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		471			Vitellogenin.		O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Missense_Mutation	SNP	ENST00000233242.1	37	c.1413G>A	CCDS1703.1	.	.	.	.	.	.	.	.	.	.	C	2.903	-0.227129	0.06022	.	.	ENSG00000084674	ENST00000233242;ENST00000535079;ENST00000399256	T;T	0.32023	1.47;1.47	4.86	2.95	0.34219	Lipid transport protein, N-terminal (3);Vitellinogen, superhelical (2);	1.755510	0.03211	N	0.176191	T	0.25938	0.0632	L	0.40543	1.245	0.09310	N	1	B	0.10296	0.003	B	0.11329	0.006	T	0.18461	-1.0336	10	0.20046	T	0.44	.	5.1972	0.15245	0.0:0.4784:0.3036:0.218	.	471	P04114	APOB_HUMAN	I	471	ENSP00000233242:M471I;ENSP00000382200:M471I	ENSP00000233242:M471I	M	-	3	0	APOB	21106332	0.001000	0.12720	0.294000	0.24946	0.114000	0.19823	-0.128000	0.10531	1.198000	0.43158	0.655000	0.94253	ATG		0.428	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1			11	131	0	0	0	1	0	11	131					T	21252827	C	T	21252827	3	4	214	1	0	0	0	0	1	0	0	0	785	594	21	3	12354	3	APOB	2	21252827	Missense_Mutation	SNP	C	TCGA-HC-7742-01A-11D-2114-08		21252827	221946546	8	9830											
TBC1D5	9779	broad.mit.edu	37	chr3	17279892	17279892	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gaccttatttatattcagggGagcacctttggcattggtcc	8	14	10	9	0	1	0	1	0	0	0	2	2	2	1	3	4	1	2	3	4	3	7			TCGA-HC-7742-01A-11D-2114-08	TCGA-HC-7742-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b134ed52-c6fa-45eb-a4af-1d84cbf013d8	c8565d71-27c7-400a-bd9b-97fd79a7e8e7	g.chr3:17279892G>A	ENST00000253692.7	-	17	3015	c.1351C>T	c.(1351-1353)Ccc>Tcc	p.P451S	TBC1D5_ENST00000446818.2_Missense_Mutation_p.P451S|TBC1D5_ENST00000414318.2_5'UTR|TBC1D5_ENST00000429924.2_Missense_Mutation_p.P403S|TBC1D5_ENST00000429383.4_Missense_Mutation_p.P451S	NM_014744.2	NP_055559.1	Q92609	TBCD5_HUMAN	TBC1 domain family, member 5	451						retromer complex (GO:0030904)	Rab GTPase activator activity (GO:0005097)			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	36						ATATTCAGGGGAGCACCTTTG	0.388																																						ENST00000253692.7																			0				NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	36						c.(1351-1353)Ccc>Tcc		TBC1 domain family, member 5							41	42	41					3																	17279892		2203	4300	6503	SO:0001583	missense	9779					intracellular	protein binding|Rab GTPase activator activity	g.chr3:17279892G>A	D86965	CCDS33714.1, CCDS46770.1	3p24.3	2013-07-09			ENSG00000131374	ENSG00000131374			19166	protein-coding gene	gene with protein product		615740				19531583	Standard	NM_014744		Approved	KIAA0210	uc003cbe.3	Q92609	OTTHUMG00000155488	ENST00000253692.7:c.1351C>T	3.37:g.17279892G>A	ENSP00000253692:p.Pro451Ser					TBC1D5_ENST00000429383.4_Missense_Mutation_p.P451S|TBC1D5_ENST00000429924.2_Missense_Mutation_p.P403S|TBC1D5_ENST00000414318.2_5'UTR|TBC1D5_ENST00000446818.2_Missense_Mutation_p.P451S	p.P451S	NM_014744.2	NP_055559.1	Q92609	TBCD5_HUMAN			17	3015	-			451					A6NP25|C9JP52	Missense_Mutation	SNP	ENST00000253692.7	37	c.1351C>T	CCDS33714.1	.	.	.	.	.	.	.	.	.	.	G	16.48	3.134527	0.56828	.	.	ENSG00000131374	ENST00000253692;ENST00000429383;ENST00000446818;ENST00000429924	T;T;T;T	0.47869	1.44;1.44;1.37;0.83	5.89	5.89	0.94794	.	0.099558	0.64402	D	0.000001	T	0.44286	0.1286	L	0.47716	1.5	0.80722	D	1	B;B;B;B	0.22146	0.013;0.065;0.065;0.065	B;B;B;B	0.19391	0.003;0.018;0.025;0.025	T	0.20672	-1.0268	10	0.23891	T	0.37	-16.7309	18.4274	0.90613	0.0:0.0:1.0:0.0	.	403;451;451;451	C9J3F6;C9JP52;B9A6K1;Q92609	.;.;.;TBCD5_HUMAN	S	451;451;451;403	ENSP00000253692:P451S;ENSP00000398127:P451S;ENSP00000402935:P451S;ENSP00000411925:P403S	ENSP00000253692:P451S	P	-	1	0	TBC1D5	17254896	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.881000	0.87252	2.781000	0.95711	0.555000	0.69702	CCC		0.388	TBC1D5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340301.3	NM_014744		12	46	0	0	0	1	0	12	46					A	17279892	G	A	17279892	3	1	214	1	0	0	0	0	1	0	0	0	15620	1174	41	3	1130	3	TBC1D5	3	17279892	Missense_Mutation	SNP	G	TCGA-HC-7742-01A-11D-2114-08		17279892	180742538	9	9831											
ROBO1	6091	broad.mit.edu	37	chr3	78708861	78708861	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actcttggaccattccatttTgagtgtcttctggaggtggc	6	15	11	9	0	3	1	0	1	3	0	4	3	4	3	2	4	0	0	2	4	0	5			TCGA-HC-7742-01A-11D-2114-08	TCGA-HC-7742-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b134ed52-c6fa-45eb-a4af-1d84cbf013d8	6fd7283b-c522-4e98-bfff-740d5d01154b	g.chr3:78708861T>G	ENST00000464233.1	-	17	2530	c.2417A>C	c.(2416-2418)cAa>cCa	p.Q806P	ROBO1_ENST00000495273.1_Missense_Mutation_p.Q770P|ROBO1_ENST00000467549.1_Missense_Mutation_p.Q770P|ROBO1_ENST00000436010.2_Missense_Mutation_p.Q767P	NM_002941.3	NP_002932.1	Q9Y6N7	ROBO1_HUMAN	roundabout, axon guidance receptor, homolog 1 (Drosophila)	806	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|cell adhesion (GO:0007155)|cell migration involved in sprouting angiogenesis (GO:0002042)|chemorepulsion involved in postnatal olfactory bulb interneuron migration (GO:0021836)|homophilic cell adhesion (GO:0007156)|mammary duct terminal end bud growth (GO:0060763)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|negative regulation of negative chemotaxis (GO:0050925)|nervous system development (GO:0007399)|positive regulation of axonogenesis (GO:0050772)|Roundabout signaling pathway (GO:0035385)	axolemma (GO:0030673)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	axon guidance receptor activity (GO:0008046)|identical protein binding (GO:0042802)|LRR domain binding (GO:0030275)			breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1)	44		Lung SC(41;0.0257)|Lung NSC(201;0.0439)		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)		CATTCCATTTTGAGTGTCTTC	0.433																																						ENST00000436010.2																			0				breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1)	44						c.(2299-2301)cAa>cCa		roundabout, axon guidance receptor, homolog 1 (Drosophila)							47	42	44					3																	78708861		1816	4070	5886	SO:0001583	missense	6091				activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis|Roundabout signaling pathway	cell surface|cytoplasm|integral to plasma membrane	axon guidance receptor activity|identical protein binding|LRR domain binding	g.chr3:78708861T>G	AF040990	CCDS46872.1, CCDS46872.2, CCDS54610.1, CCDS54611.1	3p12.3	2013-02-11	2001-11-28		ENSG00000169855	ENSG00000169855		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	10249	protein-coding gene	gene with protein product		602430	"roundabout (axon guidance receptor, Drosophila) homolog 1"			9458045, 9608531	Standard	NM_002941		Approved	DUTT1, FLJ21882, SAX3	uc003dqe.2	Q9Y6N7	OTTHUMG00000158843	ENST00000464233.1:c.2417A>C	3.37:g.78708861T>G	ENSP00000420321:p.Gln806Pro					ROBO1_ENST00000467549.1_Missense_Mutation_p.Q770P|ROBO1_ENST00000495273.1_Missense_Mutation_p.Q770P|ROBO1_ENST00000464233.1_Missense_Mutation_p.Q806P	p.Q767P			Q9Y6N7	ROBO1_HUMAN		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)	15	3297	-		Lung SC(41;0.0257)|Lung NSC(201;0.0439)	806					B2RXI1|D3DU36|E9PD49|Q1RMC7|Q7Z300|Q9BUS7	Missense_Mutation	SNP	ENST00000464233.1	37	c.2300A>C	CCDS54611.1	.	.	.	.	.	.	.	.	.	.	T	20.9	4.068643	0.76301	.	.	ENSG00000169855	ENST00000436010;ENST00000398412;ENST00000464233;ENST00000495273;ENST00000467549;ENST00000398414	T;T;T;T	0.56444	0.46;0.46;0.46;0.46	5.95	5.95	0.96441	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.053968	0.85682	D	0.000000	T	0.54398	0.1856	L	0.33624	1.015	0.50467	D	0.99987	D;B;P;B;B	0.54207	0.965;0.198;0.943;0.106;0.086	P;B;P;B;B	0.53649	0.731;0.363;0.659;0.236;0.248	T	0.50988	-0.8762	9	.	.	.	.	14.9763	0.71277	0.0:0.0:0.0:1.0	.	770;806;770;770;767	Q9Y6N7-3;Q9Y6N7;B2RXI1;E9PD49;Q9Y6N7-4	.;ROBO1_HUMAN;.;.;.	P	767;770;806;770;770;810	ENSP00000406043:Q767P;ENSP00000420321:Q806P;ENSP00000420637:Q770P;ENSP00000417992:Q770P	.	Q	-	2	0	ROBO1	78791551	1.000000	0.71417	0.944000	0.38274	0.956000	0.61745	4.873000	0.63057	2.279000	0.76181	0.402000	0.26972	CAA		0.433	ROBO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352610.1	NM_002941		6	7	0	0	0	1	0	6	7					G	78708861	T	G	78708861	3	3	214	1	0	0	0	0	1	0	0	0	13513	1812	63	5	2598	5	ROBO1	3	78708861	Missense_Mutation	SNP	T	TCGA-HC-7742-01A-11D-2114-08	61428969	78708861	119313569	10	9832											
ALDH1L1	10840	broad.mit.edu	37	chr3	125824675	125824675	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cctgcctggagcttgtcactGacatacagggccttgttgat	7	12	11	11	0	1	2	1	2	0	0	1	3	1	3	3	2	3	2	3	2	1	4			TCGA-HC-7742-01A-11D-2114-08	TCGA-HC-7742-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b134ed52-c6fa-45eb-a4af-1d84cbf013d8	c8565d71-27c7-400a-bd9b-97fd79a7e8e7	g.chr3:125824675G>A	ENST00000393434.2	-	22	2896	c.2547C>T	c.(2545-2547)gtC>gtT	p.V849V	ALDH1L1_ENST00000452905.2_Silent_p.V748V|ALDH1L1-AS1_ENST00000512384.1_RNA|ALDH1L1_ENST00000273450.3_Silent_p.V859V|ALDH1L1_ENST00000393431.2_3'UTR|ALDH1L1_ENST00000472186.1_Silent_p.V849V	NM_012190.3	NP_036322.2	O75891	AL1L1_HUMAN	aldehyde dehydrogenase 1 family, member L1	849	Aldehyde dehydrogenase.				10-formyltetrahydrofolate catabolic process (GO:0009258)|biosynthetic process (GO:0009058)|one-carbon metabolic process (GO:0006730)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	catalytic activity (GO:0003824)|formyltetrahydrofolate dehydrogenase activity (GO:0016155)|hydroxymethyl-, formyl- and related transferase activity (GO:0016742)|methyltransferase activity (GO:0008168)|oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor (GO:0016620)			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(5)|large_intestine(10)|lung(22)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	52				GBM - Glioblastoma multiforme(114;0.0462)	Tetrahydrofolic acid(DB00116)	GCTTGTCACTGACATACAGGG	0.552																																						ENST00000393434.2																			0				NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(5)|large_intestine(10)|lung(22)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	52						c.(2545-2547)gtC>gtT		aldehyde dehydrogenase 1 family, member L1	Tetrahydrofolic acid(DB00116)						187	175	179					3																	125824675		2203	4300	6503	SO:0001819	synonymous_variant	10840				10-formyltetrahydrofolate catabolic process|biosynthetic process		acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity	g.chr3:125824675G>A	AF052732	CCDS3034.1, CCDS58850.1, CCDS58851.1	3q21.2	2010-07-19		2005-01-27	ENSG00000144908	ENSG00000144908	1.5.1.6	"Aldehyde dehydrogenases"	3978	protein-coding gene	gene with protein product	"cytosolic 10-formyltetrahydrofolate dehydrogenase"	600249	"formyltetrahydrofolate dehydrogenase"	FTHFD			Standard	NM_012190		Approved	10-fTHF	uc031sbp.1	O75891	OTTHUMG00000125551	ENST00000393434.2:c.2547C>T	3.37:g.125824675G>A						ALDH1L1_ENST00000393431.2_3'UTR|ALDH1L1-AS1_ENST00000512384.1_RNA|ALDH1L1_ENST00000472186.1_Silent_p.V849V|ALDH1L1_ENST00000452905.2_Silent_p.V748V|ALDH1L1_ENST00000273450.3_Silent_p.V859V	p.V849V	NM_012190.3	NP_036322.2	O75891	AL1L1_HUMAN		GBM - Glioblastoma multiforme(114;0.0462)	22	2896	-			849			Aldehyde dehydrogenase.		B4DG36|E9PBX3|Q68CS1	Silent	SNP	ENST00000393434.2	37	c.2547C>T	CCDS3034.1																																																																																				0.552	ALDH1L1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354391.1	NM_012190		5	177	0	0	0	1	0	5	177					A	125824675	G	A	125824675	2	1	214	1	0	0	0	0	0	0	0	1	494	1277	45	3		3	ALDH1L1	3	125824675	Silent	SNP	G	TCGA-HC-7742-01A-11D-2114-08	47115814	125824675	72197755	11	9833											
MECOM	2122	broad.mit.edu	37	chr3	168819875	168819875	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tatagcgctcctttcccttcCgcagaaggttctctggcagg	6	12	10	13	2	1	1	0	0	1	1	5	1	4	1	3	3	1	4	3	3	3	5			TCGA-HC-7742-01A-11D-2114-08	TCGA-HC-7742-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b134ed52-c6fa-45eb-a4af-1d84cbf013d8	c8565d71-27c7-400a-bd9b-97fd79a7e8e7	g.chr3:168819875C>T	ENST00000464456.1	-	9	3353	c.2153G>A	c.(2152-2154)cGg>cAg	p.R718Q	MECOM_ENST00000460814.1_Missense_Mutation_p.R718Q|MECOM_ENST00000392736.3_Missense_Mutation_p.R727Q|MECOM_ENST00000494292.1_Missense_Mutation_p.R906Q|MECOM_ENST00000472280.1_Missense_Mutation_p.R728Q|MECOM_ENST00000433243.2_Missense_Mutation_p.R728Q|MECOM_ENST00000264674.3_Missense_Mutation_p.R792Q|MECOM_ENST00000468789.1_Missense_Mutation_p.R727Q	NM_001164000.1	NP_001157472.1	Q13465	MDS1_HUMAN	MDS1 and EVI1 complex locus	0					regulation of transcription, DNA-templated (GO:0006355)		sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						CTTTCCCTTCCGCAGAAGGTT	0.502																																						ENST00000464456.1																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						c.(2152-2154)cGg>cAg		MDS1 and EVI1 complex locus							68	65	66					3																	168819875		2203	4300	6503	SO:0001583	missense	2122						sequence-specific DNA binding transcription factor activity	g.chr3:168819875C>T	S82592, AF164154	CCDS3205.1, CCDS54669.1, CCDS54670.1	3q26.2	2013-01-08	2009-08-07	2009-08-07	ENSG00000085276	ENSG00000085276		"Zinc fingers, C2H2-type"	3498	protein-coding gene	gene with protein product		165215	"myelodysplasia syndrome 1", "ecotropic viral integration site 1"	MDS1, EVI1		2115646, 8171026, 8643684	Standard	NM_001105077		Approved	MDS1-EVI1, PRDM3	uc011bpj.1	Q03112	OTTHUMG00000158596	ENST00000464456.1:c.2153G>A	3.37:g.168819875C>T	ENSP00000419770:p.Arg718Gln					MECOM_ENST00000468789.1_Missense_Mutation_p.R727Q|MECOM_ENST00000494292.1_Missense_Mutation_p.R906Q|MECOM_ENST00000460814.1_Missense_Mutation_p.R718Q|MECOM_ENST00000433243.2_Missense_Mutation_p.R728Q|MECOM_ENST00000472280.1_Missense_Mutation_p.R728Q|MECOM_ENST00000392736.3_Missense_Mutation_p.R727Q|MECOM_ENST00000264674.3_Missense_Mutation_p.R792Q	p.R718Q	NM_001164000.1	NP_001157472.1	Q13465	MDS1_HUMAN			9	3353	-			0					Q13466|Q6FH90	Missense_Mutation	SNP	ENST00000464456.1	37	c.2153G>A	CCDS54669.1	.	.	.	.	.	.	.	.	.	.	C	29.7	5.028087	0.93518	.	.	ENSG00000085276	ENST00000264674;ENST00000392736;ENST00000464456;ENST00000472280;ENST00000494292;ENST00000468789;ENST00000460814;ENST00000433243	T;T;T;T;T;T;T;T	0.07021	3.26;3.23;3.26;3.36;3.25;3.23;3.25;3.36	5.45	5.45	0.79879	.	0.095984	0.43747	D	0.000527	T	0.18676	0.0448	L	0.61218	1.895	0.80722	D	1	P;D;B;B;B	0.56521	0.647;0.976;0.367;0.178;0.258	B;P;B;B;B	0.48704	0.124;0.587;0.091;0.027;0.04	T	0.00194	-1.1933	10	0.62326	D	0.03	-9.2499	19.688	0.95987	0.0:1.0:0.0:0.0	.	915;719;906;792;727	Q03112-3;Q03112-6;E7EQ57;Q03112-4;Q03112	.;.;.;.;EVI1_HUMAN	Q	792;727;718;728;906;727;718;728	ENSP00000264674:R792Q;ENSP00000376493:R727Q;ENSP00000419770:R718Q;ENSP00000420048:R728Q;ENSP00000417899:R906Q;ENSP00000419995:R727Q;ENSP00000420466:R718Q;ENSP00000394302:R728Q	ENSP00000264674:R792Q	R	-	2	0	MECOM	170302569	1.000000	0.71417	1.000000	0.80357	0.802000	0.45316	7.434000	0.80377	2.730000	0.93505	0.655000	0.94253	CGG		0.502	MECOM-020	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000351519.1	NM_005241, NM_004991		15	41	0	0	0	1	0	15	41					T	168819875	C	T	168819875	3	4	214	1	0	0	0	0	1	0	0	0	9422	652	23	2	1003	2	MECOM	3	168819875	Missense_Mutation	SNP	C	TCGA-HC-7742-01A-11D-2114-08	42995200	168819875	29202555	12	9834											
CRIPAK	285464	broad.mit.edu	37	chr4	1388467	1388468	+	Frame_Shift_Del	DEL	CA	CA	-																															atgtggagtgcccgcctgctCacacgtgcccatgtggagtg																										TCGA-HC-7742-01A-11D-2114-08	TCGA-HC-7742-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b134ed52-c6fa-45eb-a4af-1d84cbf013d8	6fd7283b-c522-4e98-bfff-740d5d01154b	g.chr4:1388467_1388468delCA	ENST00000324803.4	+	1	3128_3129	c.168_169delCA	c.(166-171)ctcacafs	p.T57fs		NM_175918.3	NP_787114.2	Q8N1N5	CRPAK_HUMAN	cysteine-rich PAK1 inhibitor	57					negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of protein kinase activity (GO:0006469)|regulation of cytoskeleton organization (GO:0051493)|response to estrogen (GO:0043627)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(1)	35			OV - Ovarian serous cystadenocarcinoma(23;0.0106)			CCCGCCTGCTCACACGTGCCCA	0.644																																						ENST00000324803.4																			0				NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(1)	35						c.(166-171)ctcafs		cysteine-rich PAK1 inhibitor																																				SO:0001589	frameshift_variant	285464				ER-nucleus signaling pathway|negative regulation of protein kinase activity|regulation of cytoskeleton organization|response to estrogen stimulus	endoplasmic reticulum|nucleus|plasma membrane	protein binding	g.chr4:1388467_1388468delCA	AK096209	CCDS3349.1	4p16.3	2011-02-10	2006-09-04		ENSG00000179979	ENSG00000179979			26619	protein-coding gene	gene with protein product		610203	"cysteine-rich PAK1inhibitor"			16278681	Standard	NM_175918		Approved	FLJ34443	uc003gdf.2	Q8N1N5	OTTHUMG00000121131	ENST00000324803.4:c.168_169delCA	4.37:g.1388469_1388470delCA	ENSP00000323978:p.Thr57fs						p.LT56fs	NM_175918.3	NP_787114.2	Q8N1N5	CRPAK_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.0106)		1	3128_3129	+			56					Q8NB03	Frame_Shift_Del	DEL	ENST00000324803.4	37	c.168_169delCA	CCDS3349.1																																																																																				0.644	CRIPAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241607.2	NM_175918		8	1017						8	1017	---	---	---	---	-	1388468	CA	-	1388467	7	5	214	1	0	1	0	1	0	0	0	0	3877	813	29	0	170	0	CRIPAK	4	1388467	Frame_Shift_Del	DEL	CA	TCGA-HC-7742-01A-11D-2114-08		1388467	189765809	13	9835											
GAR1	54433	broad.mit.edu	37	chr4	110737454	110737454	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cggcaatttcagaggcggcgGcaggggaggatttggacgag	9	6	19	7	4	1	1	1	0	0	1	1	5	1	4	0	8	0	2	0	8	1	2			TCGA-HC-7742-01A-11D-2114-08	TCGA-HC-7742-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b134ed52-c6fa-45eb-a4af-1d84cbf013d8	c8565d71-27c7-400a-bd9b-97fd79a7e8e7	g.chr4:110737454G>A	ENST00000226796.6	+	2	398	c.134G>A	c.(133-135)gGc>gAc	p.G45D	RP11-602N24.3_ENST00000609440.1_lincRNA|GAR1_ENST00000394631.3_Missense_Mutation_p.G45D	NM_018983.3	NP_061856.1	Q9NY12	GAR1_HUMAN	GAR1 ribonucleoprotein	45	RGG-box 1.				cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|pseudouridine synthesis (GO:0001522)|rRNA processing (GO:0006364)	box H/ACA snoRNP complex (GO:0031429)|nucleolus (GO:0005730)|nucleus (GO:0005634)	cation channel activity (GO:0005261)|poly(A) RNA binding (GO:0044822)			kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)	9						agaggcggcggcaggggaggA	0.607																																						ENST00000226796.6																			0				kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)	9						c.(133-135)gGc>gAc		GAR1 ribonucleoprotein							31	39	37					4																	110737454		2202	4300	6502	SO:0001583	missense	54433				rRNA processing|snRNA pseudouridine synthesis	box H/ACA snoRNP complex|Cajal body	cation channel activity|pseudouridine synthase activity|snoRNA binding	g.chr4:110737454G>A	AJ276003	CCDS34050.1	4q	2013-07-31	2013-07-31	2008-10-13	ENSG00000109534	ENSG00000109534			14264	protein-coding gene	gene with protein product		606468	"nucleolar protein family A, member 1 (H/ACA small nucleolar RNPs)", "GAR1 ribonucleoprotein homolog (yeast)"	NOLA1		10757788	Standard	XM_005263069		Approved		uc003hzu.3	Q9NY12	OTTHUMG00000161108	ENST00000226796.6:c.134G>A	4.37:g.110737454G>A	ENSP00000226796:p.Gly45Asp					GAR1_ENST00000394631.3_Missense_Mutation_p.G45D	p.G45D	NM_018983.3	NP_061856.1	Q9NY12	GAR1_HUMAN			2	398	+			45			RGG-box 1.		Q5MJQ2	Missense_Mutation	SNP	ENST00000226796.6	37	c.134G>A	CCDS34050.1	.	.	.	.	.	.	.	.	.	.	G	19.45	3.829216	0.71258	.	.	ENSG00000109534	ENST00000394631;ENST00000226796	.	.	.	3.99	3.99	0.46301	.	0.058323	0.64402	D	0.000002	T	0.53706	0.1813	N	0.08118	0	0.47547	D	0.999456	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.992	T	0.65623	-0.6123	9	0.66056	D	0.02	.	16.2214	0.82262	0.0:0.0:1.0:0.0	.	45;45	Q9NY12-2;Q9NY12	.;GAR1_HUMAN	D	45	.	ENSP00000226796:G45D	G	+	2	0	GAR1	110956903	1.000000	0.71417	0.997000	0.53966	0.993000	0.82548	6.243000	0.72384	2.209000	0.71365	0.655000	0.94253	GGC		0.607	GAR1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363810.2			4	57	0	0	0	1	0	4	57					A	110737454	G	A	110737454	3	1	214	1	0	0	0	0	1	0	0	0	6240	1203	42	3	136	3	GAR1	4	110737454	Missense_Mutation	SNP	G	TCGA-HC-7742-01A-11D-2114-08	109348987	110737454	80416822	14	9836											
C6	729	broad.mit.edu	37	chr5	41159224	41159224	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgtgcagtcttcctcttgtcGcttctccccctcacagcgtt	3	15	7	16	2	4	0	1	0	3	0	7	0	5	0	3	0	2	3	3	0	0	4	rs191386155		TCGA-HC-7742-01A-11D-2114-08	TCGA-HC-7742-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b134ed52-c6fa-45eb-a4af-1d84cbf013d8	c8565d71-27c7-400a-bd9b-97fd79a7e8e7	g.chr5:41159224G>A	ENST00000263413.3	-	12	2080	c.1816C>T	c.(1816-1818)Cga>Tga	p.R606*	C6_ENST00000475349.1_5'Flank|C6_ENST00000337836.5_Nonsense_Mutation_p.R606*	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	606	TSP type-1 3. {ECO:0000255|PROSITE- ProRule:PRU00210}.				complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane attack complex (GO:0005579)				central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				TCCTCTTGTCGCTTCTCCCCC	0.468													G|||	1	0.000199681	0	0	5008	,	,		19718	0.001		0	False		,,,				2504	0					ENST00000263413.3																			0				central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96						c.(1816-1818)Cga>Tga		complement component 6							134	143	140					5																	41159224		2203	4300	6503	SO:0001587	stop_gained	729				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding	g.chr5:41159224G>A	J05024	CCDS3936.1	5p13.1	2014-09-17			ENSG00000039537	ENSG00000039537		"Complement system"	1339	protein-coding gene	gene with protein product		217050					Standard	NM_001115131		Approved		uc003jmk.3	P13671	OTTHUMG00000094781	ENST00000263413.3:c.1816C>T	5.37:g.41159224G>A	ENSP00000263413:p.Arg606*					C6_ENST00000337836.5_Nonsense_Mutation_p.R606*	p.R606*	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN			12	2080	-		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)	606			TSP type-1 3.			Nonsense_Mutation	SNP	ENST00000263413.3	37	c.1816C>T	CCDS3936.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	37	6.024695	0.97211	.	.	ENSG00000039537	ENST00000337836;ENST00000263413	.	.	.	5.64	0.227	0.15359	.	0.760891	0.13230	N	0.403706	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07990	T	0.79	-2.9364	3.556	0.07865	0.0796:0.1783:0.3112:0.4309	.	.	.	.	X	606	.	ENSP00000263413:R606X	R	-	1	2	C6	41194981	0.000000	0.05858	0.008000	0.14137	0.249000	0.25844	0.686000	0.25392	0.114000	0.18032	-0.188000	0.12872	CGA		0.468	C6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211592.1			49	115	0	0	0	1	0	49	115					A	41159224	G	A	41159224	4	1	214	1	0	0	0	0	0	1	0	0	2315	1095	38	1	1016	1	C6	5	41159224	Nonsense_Mutation	SNP	G	TCGA-HC-7742-01A-11D-2114-08		41159224	139756036	15	9837											
BNIP1	662	broad.mit.edu	37	chr5	172590800	172590800	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gggcaccatccagctgggccGgaagcttatcacaaaataca	13	6	10	12	1	1	0	1	0	0	0	2	1	2	1	3	3	3	3	3	3	5	2	rs148150409	byFrequency	TCGA-HC-7742-01A-11D-2114-08	TCGA-HC-7742-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b134ed52-c6fa-45eb-a4af-1d84cbf013d8	c8565d71-27c7-400a-bd9b-97fd79a7e8e7	g.chr5:172590800G>A	ENST00000351486.5	+	6	594	c.563G>A	c.(562-564)cGg>cAg	p.R188Q	BNIP1_ENST00000231668.9_Missense_Mutation_p.R231Q|BNIP1_ENST00000352523.6_Missense_Mutation_p.R197Q|BNIP1_ENST00000393770.4_Missense_Mutation_p.R154Q	NM_001205.2	NP_001196.2	Q12981	SEC20_HUMAN	BCL2/adenovirus E1B 19kDa interacting protein 1	188					apoptotic process (GO:0006915)|autophagy (GO:0006914)|endoplasmic reticulum membrane fusion (GO:0016320)|endoplasmic reticulum organization (GO:0007029)|execution phase of apoptosis (GO:0097194)|negative regulation of apoptotic process (GO:0043066)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|integral component of endoplasmic reticulum membrane (GO:0030176)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|SNARE complex (GO:0031201)	SNAP receptor activity (GO:0005484)			breast(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|skin(1)	11	Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			CAGCTGGGCCGGAAGCTTATC	0.488																																						ENST00000231668.9																			0				breast(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|skin(1)	11						c.(691-693)cGg>cAg		BCL2/adenovirus E1B 19kDa interacting protein 1		G	GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG	3,4403	6.2+/-15.9	0,3,2200	96	92	94		563,461,692,590	5.8	1	5	dbSNP_134	94	0,8600		0,0,4300	yes	missense,missense,missense,missense	BNIP1	NM_001205.2,NM_013978.2,NM_013979.2,NM_013980.2	43,43,43,43	0,3,6500	AA,AG,GG		0.0,0.0681,0.0231	probably-damaging,probably-damaging,probably-damaging,probably-damaging	188/229,154/195,231/272,197/238	172590800	3,13003	2203	4300	6503	SO:0001583	missense	662				anti-apoptosis|apoptosis|endoplasmic reticulum membrane fusion|endoplasmic reticulum organization|induction of apoptosis|vesicle-mediated transport	integral to endoplasmic reticulum membrane|nuclear envelope|SNARE complex	protein binding	g.chr5:172590800G>A	AF083957	CCDS4384.1, CCDS4385.1, CCDS4386.1, CCDS43400.1	5q33-q34	2008-02-05	2002-08-29		ENSG00000113734	ENSG00000113734			1082	protein-coding gene	gene with protein product		603291	"BCL2/adenovirus E1B 19kD-interacting protein 1"			7954800, 15272311	Standard	NM_013979		Approved	Nip1, SEC20	uc003mcj.4	Q12981	OTTHUMG00000130521	ENST00000351486.5:c.563G>A	5.37:g.172590800G>A	ENSP00000239215:p.Arg188Gln					BNIP1_ENST00000393770.4_Missense_Mutation_p.R154Q|BNIP1_ENST00000352523.6_Missense_Mutation_p.R197Q|BNIP1_ENST00000351486.5_Missense_Mutation_p.R188Q	p.R231Q	NM_013979.2	NP_053582.2	Q12981	SEC20_HUMAN	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)		7	796	+	Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	188					D3DQM3|D3DQM4|D3DQM5|D3DQM6|O75622|O75623|O75624|Q6K044|Q96FG4	Missense_Mutation	SNP	ENST00000351486.5	37	c.692G>A	CCDS4384.1	.	.	.	.	.	.	.	.	.	.	G	24.3	4.515560	0.85389	6.81E-4	0.0	ENSG00000113734	ENST00000231668;ENST00000351486;ENST00000352523;ENST00000393770	T;T;T;T	0.49432	0.78;0.81;0.86;0.78	5.75	5.75	0.90469	.	0.000000	0.85682	D	0.000000	T	0.69160	0.3080	M	0.76002	2.32	0.80722	D	1	D;D;D;D	0.89917	1.0;0.998;0.997;0.999	D;P;P;D	0.67725	0.923;0.886;0.772;0.953	T	0.66324	-0.5952	10	0.38643	T	0.18	.	19.9468	0.97185	0.0:0.0:1.0:0.0	.	154;197;188;231	Q12981-2;Q12981-3;Q12981;Q12981-1	.;.;SEC20_HUMAN;.	Q	231;188;197;154	ENSP00000231668:R231Q;ENSP00000239215:R188Q;ENSP00000239214:R197Q;ENSP00000377365:R154Q	ENSP00000231668:R231Q	R	+	2	0	BNIP1	172523406	1.000000	0.71417	1.000000	0.80357	0.584000	0.36387	9.476000	0.97823	2.714000	0.92807	0.650000	0.86243	CGG		0.488	BNIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252939.1	NM_013979		3	86	0	0	0	1	0	3	86					A	172590800	G	A	172590800	3	1	214	1	0	0	0	0	1	0	0	0	1476	1116	39	2	718	2	BNIP1	5	172590800	Missense_Mutation	SNP	G	TCGA-HC-7742-01A-11D-2114-08	131431576	172590800	8324460	16	9838											
MCHR2	84539	broad.mit.edu	37	chr6	100390896	100390896	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tctttaaatttgatgaccttCgagtagacccagacaggcaa	13	11	8	9	1	1	4	0	2	1	2	2	5	1	4	2	1	0	2	2	1	4	5	rs140465249	byFrequency	TCGA-HC-7742-01A-11D-2114-08	TCGA-HC-7742-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b134ed52-c6fa-45eb-a4af-1d84cbf013d8	c8565d71-27c7-400a-bd9b-97fd79a7e8e7	g.chr6:100390896C>T	ENST00000281806.2	-	4	830	c.516G>A	c.(514-516)tcG>tcA	p.S172S	MCHR2_ENST00000369212.2_Silent_p.S172S	NM_001040179.1	NP_001035269.1	Q969V1	MCHR2_HUMAN	melanin-concentrating hormone receptor 2	172						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	39		all_cancers(76;4.87e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0309)|Colorectal(196;0.069)		BRCA - Breast invasive adenocarcinoma(108;0.0429)		TGATGACCTTCGAGTAGACCC	0.448																																						ENST00000281806.2																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	39						c.(514-516)tcG>tcA		melanin-concentrating hormone receptor 2							147	138	141					6																	100390896		2203	4300	6503	SO:0001819	synonymous_variant	84539					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr6:100390896C>T	AF347063	CCDS5044.1	6q16	2012-08-08	2006-02-15	2006-02-15	ENSG00000152034	ENSG00000152034		"GPCR / Class A : MCH receptors"	20867	protein-coding gene	gene with protein product		606111	"G protein-coupled receptor 145"	GPR145		11355873, 11274220	Standard	NM_032503		Approved	SLT, MCH2, MCH2R	uc003pqi.1	Q969V1	OTTHUMG00000015270	ENST00000281806.2:c.516G>A	6.37:g.100390896C>T						MCHR2_ENST00000369212.1_Silent_p.S172S|MCHR2_ENST00000445970.1_Silent_p.S172S	p.S172S	NM_001040179.1	NP_001035269.1	Q969V1	MCHR2_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0429)	4	830	-		all_cancers(76;4.87e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0309)|Colorectal(196;0.069)	172					B3KVW4|E1P5D7|Q5VTV7|Q6Q377|Q9BXA8	Silent	SNP	ENST00000281806.2	37	c.516G>A	CCDS5044.1																																																																																				0.448	MCHR2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041620.2	NM_032503		34	95	0	0	0	1	0	34	95					T	100390896	C	T	100390896	2	4	214	1	0	0	0	0	0	0	0	1	9383	871	31	2		2	MCHR2	6	100390896	Silent	SNP	C	TCGA-HC-7742-01A-11D-2114-08		100390896	70724171	17	9839											
TNRC18	84629	broad.mit.edu	37	chr7	5352791	5352793	+	In_Frame_Del	DEL	GCT	GCT	-																															tccccttctgtctccgagccGctgctgctgctgctgctgct																								rs191028877|rs374450776	byFrequency	TCGA-HC-7742-01A-11D-2114-08	TCGA-HC-7742-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b134ed52-c6fa-45eb-a4af-1d84cbf013d8	c8565d71-27c7-400a-bd9b-97fd79a7e8e7	g.chr7:5352791_5352793delGCT	ENST00000430969.1	-	27	8077_8079	c.7729_7731delAGC	c.(7729-7731)agcdel	p.S2577del	TNRC18_ENST00000399537.4_In_Frame_Del_p.S2577del	NM_001080495.2	NP_001073964.2	O15417	TNC18_HUMAN	trinucleotide repeat containing 18	2577	Ser-rich.						chromatin binding (GO:0003682)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)	11		Ovarian(82;0.142)		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)		TCTCCGAgccgctgctgctgctg	0.69																																						ENST00000399537.4																			0				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)	11						c.(7729-7731)del		trinucleotide repeat containing 18				14,42,1342		6,0,2,11,20,660						0.5	0.2			6	46,100,3046		15,0,16,25,50,1490	no	codingComplex	TNRC18	NM_001080495.2		21,0,18,36,70,2150	A1A1,A1A2,A1R,A2A2,A2R,RR		4.5739,4.0057,4.4009				60,142,4388				SO:0001651	inframe_deletion	84629						DNA binding	g.chr7:5352791_5352793delGCT	U80753	CCDS47534.1	7p22.1	2012-04-17			ENSG00000182095	ENSG00000182095		"Trinucleotide (CAG) repeat containing"	11962	protein-coding gene	gene with protein product						9225980	Standard	NM_001080495		Approved	CAGL79, TNRC18A, KIAA1856	uc003soi.4	O15417	OTTHUMG00000151831	ENST00000430969.1:c.7729_7731delAGC	7.37:g.5352800_5352802delGCT	ENSP00000395538:p.Ser2577del					TNRC18_ENST00000430969.1_In_Frame_Del_p.S2577del	p.S2577del			O15417	TNC18_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)	27	8077_8079	-		Ovarian(82;0.142)	2577			Ser-rich.		A8MX41|Q96JH1|Q96K91	In_Frame_Del	DEL	ENST00000430969.1	37	c.7729_7731delAGC	CCDS47534.1																																																																																				0.69	TNRC18-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding				2	4						2	4	---	---	---	---	-	5352793	GCT	-	5352791	7	5	214	1	0	1	0	1	0	0	0	0	16336	1078	38	0	1191	0	TNRC18	7	5352791	In_Frame_Del	DEL	GCT	TCGA-HC-7742-01A-11D-2114-08		5352791	153785872	18	9840											
UPP1	7378	broad.mit.edu	37	chr7	48141449	48141449	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgttggtggaagcccctcccGgatgaaagccttcatcaggt	8	10	12	11	1	2	1	2	1	0	0	3	3	3	3	4	4	2	1	4	4	2	2	rs201808602		TCGA-HC-7742-01A-11D-2114-08	TCGA-HC-7742-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b134ed52-c6fa-45eb-a4af-1d84cbf013d8	c8565d71-27c7-400a-bd9b-97fd79a7e8e7	g.chr7:48141449G>A	ENST00000331803.4	+	6	814	c.191G>A	c.(190-192)cGg>cAg	p.R64Q	UPP1_ENST00000395564.4_Missense_Mutation_p.R64Q|UPP1_ENST00000429491.2_Intron|UPP1_ENST00000341253.4_Missense_Mutation_p.R64Q|UPP1_ENST00000482015.1_3'UTR			Q16831	UPP1_HUMAN	uridine phosphorylase 1	64					cellular response to glucose starvation (GO:0042149)|nucleobase-containing compound metabolic process (GO:0006139)|nucleobase-containing small molecule metabolic process (GO:0055086)|nucleotide catabolic process (GO:0009166)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|pyrimidine nucleoside salvage (GO:0043097)|small molecule metabolic process (GO:0044281)|UMP salvage (GO:0044206)|uridine metabolic process (GO:0046108)	cytosol (GO:0005829)	uridine phosphorylase activity (GO:0004850)			breast(1)|endometrium(2)|large_intestine(1)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	18					Fluorouracil(DB00544)	AGCCCCTCCCGGATGAAAGCC	0.567													G|||	1	0.000199681	0	0	5008	,	,		16600	0		0.001	False		,,,				2504	0					ENST00000331803.4																			0				breast(1)|endometrium(2)|large_intestine(1)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	18						c.(190-192)cGg>cAg		uridine phosphorylase 1							142	124	130					7																	48141449		2203	4300	6503	SO:0001583	missense	7378				nucleotide catabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process|pyrimidine nucleoside salvage	cytosol	uridine phosphorylase activity	g.chr7:48141449G>A	AK096167	CCDS5507.1	7p12.3	2012-10-02	2003-08-28	2003-08-29	ENSG00000183696	ENSG00000183696	2.4.2.3		12576	protein-coding gene	gene with protein product		191730	"uridine phosphorylase"	UP		752472, 11807789	Standard	NM_003364		Approved	UPASE, UPP, UDRPASE	uc003toj.3	Q16831	OTTHUMG00000129253	ENST00000331803.4:c.191G>A	7.37:g.48141449G>A	ENSP00000330032:p.Arg64Gln					UPP1_ENST00000395564.4_Missense_Mutation_p.R64Q|UPP1_ENST00000482015.1_3'UTR|UPP1_ENST00000341253.4_Missense_Mutation_p.R64Q|UPP1_ENST00000429491.2_Intron	p.R64Q			Q16831	UPP1_HUMAN			6	814	+			64					D3DVM4|Q15362	Missense_Mutation	SNP	ENST00000331803.4	37	c.191G>A	CCDS5507.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	36	5.629973	0.96671	.	.	ENSG00000183696	ENST00000416681;ENST00000331803;ENST00000341253;ENST00000395564;ENST00000436673	D;D;D;D;D	0.88741	-2.42;-2.42;-2.42;-2.42;-2.42	5.62	5.62	0.85841	Nucleoside phosphorylase domain (1);	0.000000	0.85682	D	0.000000	D	0.95856	0.8651	M	0.90977	3.165	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.96404	0.9299	10	0.87932	D	0	-26.4038	18.6492	0.91423	0.0:0.0:1.0:0.0	.	64;64	B4DND0;Q16831	.;UPP1_HUMAN	Q	64	ENSP00000405209:R64Q;ENSP00000330032:R64Q;ENSP00000342878:R64Q;ENSP00000378931:R64Q;ENSP00000390118:R64Q	ENSP00000330032:R64Q	R	+	2	0	UPP1	48107974	1.000000	0.71417	0.982000	0.44146	0.937000	0.57800	9.520000	0.98027	2.645000	0.89757	0.655000	0.94253	CGG		0.567	UPP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251360.1	NM_003364		25	73	0	0	0	1	0	25	73					A	48141449	G	A	48141449	3	1	214	1	0	0	0	0	1	0	0	0	17009	1116	39	2	201	2	UPP1	7	48141449	Missense_Mutation	SNP	G	TCGA-HC-7742-01A-11D-2114-08	42788658	48141449	110997214	19	9841											
ABCA13	154664	broad.mit.edu	37	chr7	48352729	48352729	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gatatagtttccagcctcagCgccttgcttgccaaagccca	9	10	8	14	1	1	0	1	0	0	0	2	1	2	0	5	0	5	2	5	0	3	5			TCGA-HC-7742-01A-11D-2114-08	TCGA-HC-7742-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b134ed52-c6fa-45eb-a4af-1d84cbf013d8	c8565d71-27c7-400a-bd9b-97fd79a7e8e7	g.chr7:48352729C>T	ENST00000435803.1	+	25	9606	c.9582C>T	c.(9580-9582)agC>agT	p.S3194S		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	3194					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)	p.S3139S(1)|p.S3194S(1)		breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						CCAGCCTCAGCGCCTTGCTTG	0.433																																						ENST00000435803.1																			2	Substitution - coding silent(2)	p.S3139S(1)|p.S3194S(1)	large_intestine(2)	breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						c.(9580-9582)agC>agT		ATP-binding cassette, sub-family A (ABC1), member 13							66	65	65					7																	48352729		1881	4107	5988	SO:0001819	synonymous_variant	154664				transport	integral to membrane	ATP binding|ATPase activity	g.chr7:48352729C>T	AY204751	CCDS47584.1	7p12.3	2012-03-14			ENSG00000179869	ENSG00000179869		"ATP binding cassette transporters / subfamily A"	14638	protein-coding gene	gene with protein product		607807				12697998	Standard	NM_152701		Approved	FLJ33876, FLJ33951	uc003toq.2	Q86UQ4	OTTHUMG00000155840	ENST00000435803.1:c.9582C>T	7.37:g.48352729C>T							p.S3194S	NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN			25	9606	+			3194					K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Silent	SNP	ENST00000435803.1	37	c.9582C>T	CCDS47584.1																																																																																				0.433	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341964.2	NM_152701		10	18	0	0	0	1	0	10	18					T	48352729	C	T	48352729	2	4	214	1	0	0	0	0	0	0	0	1	31	767	27	1		1	ABCA13	7	48352729	Silent	SNP	C	TCGA-HC-7742-01A-11D-2114-08	211280	48352729	110785934	20	9842											
BRAF	673	broad.mit.edu	37	chr7	140453122	140453133	+	In_Frame_Del	DEL	TCCATCGAGATT	TCCATCGAGATT	-																															ttcaaactgatgggacccacTccatcgagatttcactgtag																								rs397516897|rs104886015|rs397507484|rs121913365|rs121913372|rs372569965|rs191566526|rs121913226		TCGA-HC-7742-01A-11D-2114-08	TCGA-HC-7742-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b134ed52-c6fa-45eb-a4af-1d84cbf013d8	c8565d71-27c7-400a-bd9b-97fd79a7e8e7	g.chr7:140453122_140453133delTCCATCGAGATT	ENST00000288602.6	-	15	1862_1873	c.1802_1813delAATCTCGATGGA	c.(1801-1815)aaatctcgatggagt>agt	p.KSRW601del		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	601	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		K -> E (in CRC). {ECO:0000269|PubMed:12198537}.|K -> Q (in CFC1). {ECO:0000269|PubMed:19206169}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.K601N(10)|p.R603*(4)|p.S605G(3)|p.T599_R603>I(2)|p.W604del(2)|p.S605F(2)|p.W604G(2)|p.W604R(1)|p.K601I(1)|p.K601K(1)|p.K601del(1)|p.S602S(1)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.W604*(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TGGGACCCACTCCATCGAGATTTCACTGTAGC	0.382	K601N(U266B1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	ENST00000288602.6	K601N(U266B1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	34	Substitution - Missense(19)|Substitution - Nonsense(5)|Complex - deletion inframe(5)|Deletion - In frame(3)|Substitution - coding silent(2)	p.K601N(10)|p.R603*(4)|p.S605G(3)|p.T599_R603>I(2)|p.W604del(2)|p.S605F(2)|p.W604G(2)|p.W604R(1)|p.K601I(1)|p.K601K(1)|p.K601del(1)|p.S602S(1)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.W604*(1)	skin(13)|haematopoietic_and_lymphoid_tissue(5)|thyroid(4)|endometrium(4)|large_intestine(2)|small_intestine(2)|lung(2)|ovary(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1801-1815)agt>a		v-raf murine sarcoma viral oncogene homolog B	Sorafenib(DB00398)																																			SO:0001651	inframe_deletion	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453122_140453133delTCCATCGAGATT	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1802_1813delAATCTCGATGGA	7.37:g.140453122_140453133delTCCATCGAGATT	ENSP00000288602:p.Lys601_Trp604del						p.KSRWS601del	NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN			15	1862_1873	-	Melanoma(164;0.00956)		601		K -> E (in colorectal cancer).|K -> Q (in CFC syndrome).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	In_Frame_Del	DEL	ENST00000288602.6	37	c.1802_1813delAATCTCGATGGA	CCDS5863.1																																																																																				0.382	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		8	93						8	93	---	---	---	---	-	140453133	TCCATCGAGATT	-	140453122	7	5	214	1	0	1	0	1	0	0	0	0	1496	1551	54	0	503	0	BRAF	7	140453122	In_Frame_Del	DEL	TCCATCGAGATT	TCGA-HC-7742-01A-11D-2114-08	92100393	140453122	18685541	21	9843											
OR2F2	135948	broad.mit.edu	37	chr7	143632698	143632698	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tggcctatgaccgccatgtgGctgtgtctgaccgcctgcga	5	10	13	13	3	1	2	0	2	1	0	1	3	1	2	5	2	1	1	5	2	1	1			TCGA-HC-7742-01A-11D-2114-08	TCGA-HC-7742-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b134ed52-c6fa-45eb-a4af-1d84cbf013d8	c8565d71-27c7-400a-bd9b-97fd79a7e8e7	g.chr7:143632698G>A	ENST00000408955.2	+	1	440	c.373G>A	c.(373-375)Gct>Act	p.A125T		NM_001004685.1	NP_001004685.1	O95006	OR2F2_HUMAN	olfactory receptor, family 2, subfamily F, member 2	125						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(19)|ovary(3)|skin(2)|stomach(1)|urinary_tract(1)	32	Melanoma(164;0.0903)					CCGCCATGTGGCTGTGTCTGA	0.557																																						ENST00000408955.2																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(19)|ovary(3)|skin(2)|stomach(1)|urinary_tract(1)	32						c.(373-375)Gct>Act		olfactory receptor, family 2, subfamily F, member 2							120	108	112					7																	143632698		2203	4300	6503	SO:0001583	missense	135948				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr7:143632698G>A		CCDS43666.1	7q33-q35	2012-08-09			ENSG00000221910	ENSG00000221910		"GPCR / Class A : Olfactory receptors"	8247	protein-coding gene	gene with protein product							Standard	NM_001004685		Approved	OR7-1	uc011ktv.2	O95006	OTTHUMG00000157768	ENST00000408955.2:c.373G>A	7.37:g.143632698G>A	ENSP00000386222:p.Ala125Thr						p.A125T	NM_001004685.1	NP_001004685.1	O95006	OR2F2_HUMAN			1	440	+	Melanoma(164;0.0903)		125					A4D2G0|Q6IFP8	Missense_Mutation	SNP	ENST00000408955.2	37	c.373G>A	CCDS43666.1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.500078	0.85176	.	.	ENSG00000221910	ENST00000408955	T	0.00912	5.55	3.68	3.68	0.42216	GPCR, rhodopsin-like superfamily (1);	0.000000	0.51477	D	0.000088	T	0.08313	0.0207	H	0.94964	3.605	0.46981	D	0.999274	D	0.89917	1.0	D	0.87578	0.998	T	0.01235	-1.1410	10	0.87932	D	0	-22.9237	13.297	0.60303	0.0:0.0:1.0:0.0	.	125	O95006	OR2F2_HUMAN	T	125	ENSP00000386222:A125T	ENSP00000386222:A125T	A	+	1	0	OR2F2	143263631	1.000000	0.71417	1.000000	0.80357	0.809000	0.45718	7.670000	0.83925	2.046000	0.60703	0.491000	0.48974	GCT		0.557	OR2F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349570.1			35	89	0	0	0	1	0	35	89					A	143632698	G	A	143632698	3	1	214	1	0	0	0	0	1	0	0	0	10997	1203	42	3	375	3	OR2F2	7	143632698	Missense_Mutation	SNP	G	TCGA-HC-7742-01A-11D-2114-08	3179576	143632698	15505965	22	9844											
LRRC61	65999	broad.mit.edu	37	chr7	150034141	150034141	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctggacctatcaggcaacgCgctcacccacctgggcccgc	7	5	11	18	3	2	0	2	0	0	0	2	1	2	1	4	3	1	3	4	3	2	1	rs200488388		TCGA-HC-7742-01A-11D-2114-08	TCGA-HC-7742-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b134ed52-c6fa-45eb-a4af-1d84cbf013d8	c8565d71-27c7-400a-bd9b-97fd79a7e8e7	g.chr7:150034141C>T	ENST00000359623.4	+	3	779	c.191C>T	c.(190-192)gCg>gTg	p.A64V	LRRC61_ENST00000323078.7_Missense_Mutation_p.A64V|LRRC61_ENST00000493307.1_Missense_Mutation_p.A64V	NM_001142928.1	NP_001136400.1	Q9BV99	LRC61_HUMAN	leucine rich repeat containing 61	64										endometrium(2)|large_intestine(1)|skin(1)|upper_aerodigestive_tract(1)	5			OV - Ovarian serous cystadenocarcinoma(82;0.011)			TCAGGCAACGCGCTCACCCAC	0.652																																						ENST00000359623.4																			0				endometrium(2)|large_intestine(1)|skin(1)|upper_aerodigestive_tract(1)	5						c.(190-192)gCg>gTg		leucine rich repeat containing 61		C	VAL/ALA,VAL/ALA	1,4405	2.1+/-5.4	0,1,2202	62	53	56		191,191	1	0.1	7		56	0,8598		0,0,4299	yes	missense,missense	LRRC61	NM_001142928.1,NM_023942.2	64,64	0,1,6501	TT,TC,CC		0.0,0.0227,0.0077	benign,benign	64/260,64/260	150034141	1,13003	2203	4299	6502	SO:0001583	missense	65999							g.chr7:150034141C>T	BC001354	CCDS5901.1	7q31-q35	2006-02-07			ENSG00000127399	ENSG00000127399			21704	protein-coding gene	gene with protein product							Standard	NM_023942		Approved	MGC3036, FLJ31392, HSPC295	uc003wgv.4	Q9BV99	OTTHUMG00000158326	ENST00000359623.4:c.191C>T	7.37:g.150034141C>T	ENSP00000352642:p.Ala64Val					LRRC61_ENST00000323078.7_Missense_Mutation_p.A64V|LRRC61_ENST00000493307.1_Missense_Mutation_p.A64V	p.A64V	NM_001142928.1	NP_001136400.1	Q9BV99	LRC61_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.011)		3	779	+			64					B3KUW0|D3DWY8	Missense_Mutation	SNP	ENST00000359623.4	37	c.191C>T	CCDS5901.1	.	.	.	.	.	.	.	.	.	.	C	8.293	0.818083	0.16607	2.27E-4	0.0	ENSG00000127399	ENST00000323078;ENST00000359623;ENST00000493307	T;T;T	0.09630	2.96;2.96;2.96	4.97	1.05	0.20165	.	0.357724	0.28549	N	0.014943	T	0.08935	0.0221	M	0.64260	1.97	0.09310	N	1	B	0.20368	0.044	B	0.12156	0.007	T	0.34229	-0.9837	10	0.19147	T	0.46	-5.4948	3.5676	0.07905	0.2937:0.4507:0.0:0.2555	.	64	Q9BV99	LRC61_HUMAN	V	64	ENSP00000339047:A64V;ENSP00000352642:A64V;ENSP00000420560:A64V	ENSP00000339047:A64V	A	+	2	0	LRRC61	149665074	0.002000	0.14202	0.102000	0.21198	0.740000	0.42216	-0.017000	0.12590	0.158000	0.19367	-1.130000	0.01982	GCG		0.652	LRRC61-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350696.1	NM_023942		4	114	0	0	0	1	0	4	114					T	150034141	C	T	150034141	3	4	214	1	0	0	0	0	1	0	0	0	9017	768	27	1	193	1	LRRC61	7	150034141	Missense_Mutation	SNP	C	TCGA-HC-7742-01A-11D-2114-08	6401443	150034141	9104522	23	9845											
ELAVL2	1993	broad.mit.edu	37	chr9	23731123	23731123	+	Splice_Site	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	agccatatcccaagctctgcCctaatgaaaaggaaggggaa	15	6	10	10	0	1	1	0	1	1	0	2	3	2	3	3	3	3	1	3	3	7	2			TCGA-HC-7742-01A-11D-2114-08	TCGA-HC-7742-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b134ed52-c6fa-45eb-a4af-1d84cbf013d8	c8565d71-27c7-400a-bd9b-97fd79a7e8e7	g.chr9:23731123C>G	ENST00000397312.2	-	3	504	c.230G>C	c.(229-231)gGg>gCg	p.G77A	ELAVL2_ENST00000223951.6_Splice_Site_p.G77A|ELAVL2_ENST00000380110.4_Splice_Site_p.G106A|ELAVL2_ENST00000380117.1_Splice_Site_p.G77A|ELAVL2_ENST00000544538.1_Splice_Site_p.G77A	NM_004432.3	NP_004423.2	Q12926	ELAV2_HUMAN	ELAV like neuron-specific RNA binding protein 2	77	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				regulation of transcription, DNA-templated (GO:0006355)		mRNA 3'-UTR binding (GO:0003730)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	39				GBM - Glioblastoma multiforme(1;2.18e-156)|Lung(42;2.15e-28)|LUSC - Lung squamous cell carcinoma(38;1.02e-19)		CAAGCTCTGCCCTAATGAAAA	0.393																																						ENST00000397312.2																			0				breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	39						c.e3-1		ELAV like neuron-specific RNA binding protein 2							106	88	94					9																	23731123		2203	4299	6502	SO:0001630	splice_region_variant	1993				regulation of transcription, DNA-dependent		mRNA 3'-UTR binding|nucleotide binding|protein binding	g.chr9:23731123C>G	BC030692	CCDS6515.1, CCDS55298.1	9p21	2013-10-03	2013-10-03		ENSG00000107105	ENSG00000107105		"RNA binding motif (RRM) containing"	3313	protein-coding gene	gene with protein product	"Hu antigen B"	601673	"ELAV (embryonic lethal, abnormal vision, Drosophila)-like 2", "ELAV (embryonic lethal, abnormal vision, Drosophila)-like 2 (Hu antigen B)"			8812435	Standard	NM_004432		Approved	HuB, HEL-N1	uc003zpu.3	Q12926	OTTHUMG00000019700	ENST00000397312.2:c.230-1G>C	9.37:g.23731123C>G						ELAVL2_ENST00000223951.6_Splice_Site_p.G77_splice|ELAVL2_ENST00000380117.1_Splice_Site_p.G77_splice|ELAVL2_ENST00000544538.1_Splice_Site_p.G77_splice|ELAVL2_ENST00000380110.4_Splice_Site_p.G106_splice	p.G77_splice	NM_004432.3	NP_004423.2	Q12926	ELAV2_HUMAN		GBM - Glioblastoma multiforme(1;2.18e-156)|Lung(42;2.15e-28)|LUSC - Lung squamous cell carcinoma(38;1.02e-19)	3	504	-			77			RRM 1.		D3DRK3|Q13235|Q59G15|Q8NEM4|Q9H1Q8	Splice_Site	SNP	ENST00000397312.2	37	c.229_splice	CCDS6515.1	.	.	.	.	.	.	.	.	.	.	C	24.6	4.548904	0.86127	.	.	ENSG00000107105	ENST00000223951;ENST00000397312;ENST00000544538;ENST00000380110;ENST00000380117;ENST00000359598;ENST00000440102	T;T;T;T;T	0.81330	2.79;-1.48;-1.48;-1.48;2.79	5.87	5.87	0.94306	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	D	0.87362	0.6158	M	0.91140	3.18	0.80722	D	1	B;P	0.48998	0.401;0.918	B;B	0.44108	0.146;0.441	D	0.89910	0.4051	10	0.87932	D	0	.	20.1777	0.98189	0.0:1.0:0.0:0.0	.	77;77	Q12926;Q12926-2	ELAV2_HUMAN;.	A	77;77;77;77;77;105;77	ENSP00000223951:G77A;ENSP00000380479:G77A;ENSP00000440998:G77A;ENSP00000369460:G77A;ENSP00000412602:G77A	ENSP00000223951:G77A	G	-	2	0	ELAVL2	23721123	1.000000	0.71417	1.000000	0.80357	0.887000	0.51463	7.248000	0.78268	2.941000	0.99782	0.655000	0.94253	GGG		0.393	ELAVL2-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000051943.2	NM_004432	Missense_Mutation	17	28	0	0	0	1	0	17	28					G	23731123	C	G	23731123	5	3	214	1	0	0	0	0	0	0	1	0	5050	637	22	5	869	5	ELAVL2	9	23731123	Splice_Site	SNP	C	TCGA-HC-7742-01A-11D-2114-08		23731123	117482308	24	9846											
ACTL7B	10880	broad.mit.edu	37	chr9	111617150	111617150	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggctcagctccctctggaagCgctcggggaagccatccagc	7	6	13	15	2	2	0	1	0	1	0	5	2	4	2	3	4	4	3	3	4	2	0			TCGA-HC-7742-01A-11D-2114-08	TCGA-HC-7742-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b134ed52-c6fa-45eb-a4af-1d84cbf013d8	c8565d71-27c7-400a-bd9b-97fd79a7e8e7	g.chr9:111617150C>T	ENST00000374667.3	-	1	2089	c.1061G>A	c.(1060-1062)cGc>cAc	p.R354H		NM_006686.3	NP_006677.1	Q9Y614	ACL7B_HUMAN	actin-like 7B	354						actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	structural constituent of cytoskeleton (GO:0005200)	p.R354H(2)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						CCTCTGGAAGCGCTCGGGGAA	0.677																																						ENST00000374667.3																			2	Substitution - Missense(2)	p.R354H(2)	large_intestine(2)	endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						c.(1060-1062)cGc>cAc		actin-like 7B							30	36	34					9																	111617150		2202	4299	6501	SO:0001583	missense	10880					actin cytoskeleton|cytoplasm	structural constituent of cytoskeleton	g.chr9:111617150C>T	BC033789	CCDS6771.1	9q31	2009-05-15			ENSG00000148156	ENSG00000148156			162	protein-coding gene	gene with protein product		604304				10373328, 12907721	Standard	NM_006686		Approved	Tact1	uc004bdi.3	Q9Y614	OTTHUMG00000020462	ENST00000374667.3:c.1061G>A	9.37:g.111617150C>T	ENSP00000363799:p.Arg354His						p.R354H	NM_006686.3	NP_006677.1	Q9Y614	ACL7B_HUMAN			1	2089	-			354					B2R9Q2|Q5JSV1	Missense_Mutation	SNP	ENST00000374667.3	37	c.1061G>A	CCDS6771.1	.	.	.	.	.	.	.	.	.	.	C	26.5	4.740686	0.89573	.	.	ENSG00000148156	ENST00000374667	D	0.99353	-5.77	5.24	5.24	0.73138	.	0.000000	0.39834	N	0.001248	D	0.99597	0.9854	H	0.95745	3.715	0.51482	D	0.999925	D	0.89917	1.0	D	0.91635	0.999	D	0.97842	1.0269	10	0.87932	D	0	.	16.3291	0.83001	0.0:1.0:0.0:0.0	.	354	Q9Y614	ACL7B_HUMAN	H	354	ENSP00000363799:R354H	ENSP00000363799:R354H	R	-	2	0	ACTL7B	110656971	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	4.961000	0.63681	2.449000	0.82847	0.561000	0.74099	CGC		0.677	ACTL7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053571.1	NM_006686		16	40	0	0	0	1	0	16	40					T	111617150	C	T	111617150	3	4	214	1	0	0	0	0	1	0	0	0	201	768	27	1	190	1	ACTL7B	9	111617150	Missense_Mutation	SNP	C	TCGA-HC-7742-01A-11D-2114-08	87886027	111617150	29596281	25	9847											
C9orf172	389813	broad.mit.edu	37	chr9	139740894	139740894	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgccggcgcaccgagaccatGttcaacgcctgcctctactt	7	9	9	16	4	2	1	1	0	1	1	2	2	2	1	5	1	4	2	5	1	2	3			TCGA-HC-7742-01A-11D-2114-08	TCGA-HC-7742-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b134ed52-c6fa-45eb-a4af-1d84cbf013d8	c8565d71-27c7-400a-bd9b-97fd79a7e8e7	g.chr9:139740894G>T	ENST00000436881.1	+	1	2028	c.2028G>T	c.(2026-2028)atG>atT	p.M676I	PHPT1_ENST00000247665.10_5'Flank|PHPT1_ENST00000545326.1_5'Flank|PHPT1_ENST00000371661.1_5'Flank	NM_001080482.2	NP_001073951.2	C9J069	CI172_HUMAN	chromosome 9 open reading frame 172	676										endometrium(2)|large_intestine(1)|lung(6)	9						CCGAGACCATGTTCAACGCCT	0.692																																						ENST00000436881.1																			0				endometrium(2)|large_intestine(1)|lung(6)	9						c.(2026-2028)atG>atT		chromosome 9 open reading frame 172							23	28	26					9																	139740894		2070	4163	6233	SO:0001583	missense	389813							g.chr9:139740894G>T		CCDS48059.1	9q34.3	2012-04-03			ENSG00000232434	ENSG00000232434			37284	protein-coding gene	gene with protein product							Standard	NM_001080482		Approved		uc011meh.2	C9J069		ENST00000436881.1:c.2028G>T	9.37:g.139740894G>T	ENSP00000412388:p.Met676Ile						p.M676I	NM_001080482.2	NP_001073951.2	C9J069	CI172_HUMAN			1	2028	+			676						Missense_Mutation	SNP	ENST00000436881.1	37	c.2028G>T	CCDS48059.1	.	.	.	.	.	.	.	.	.	.	.	11.32	1.603592	0.28534	.	.	ENSG00000232434	ENST00000436881	.	.	.	3.17	3.17	0.36434	.	.	.	.	.	T	0.40347	0.1113	L	0.31664	0.95	0.41330	D	0.987236	P	0.42941	0.794	B	0.39805	0.31	T	0.33650	-0.9860	8	0.33141	T	0.24	-13.9076	13.5	0.61449	0.0:0.0:1.0:0.0	.	676	C9J069	CI172_HUMAN	I	676	.	ENSP00000412388:M676I	M	+	3	0	C9orf172	138860715	1.000000	0.71417	1.000000	0.80357	0.613000	0.37349	6.266000	0.72540	1.600000	0.50102	0.164000	0.16699	ATG		0.692	C9orf172-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001080482		3	48	1	0	1	1	1	3	48					T	139740894	G	T	139740894	3	4	214	1	0	0	0	0	1	0	0	0	2471	1377	48	5	2030	5	C9orf172	9	139740894	Missense_Mutation	SNP	G	TCGA-HC-7742-01A-11D-2114-08	28123744	139740894	1472537	26	9848											
MYPN	84665	broad.mit.edu	37	chr10	69881296	69881296	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggaaacaatgagaggagtcGagcggagccctcctccaacc	12	4	13	12	2	0	1	0	1	0	1	3	6	2	4	4	3	4	0	4	3	3	0			TCGA-HC-7742-01A-11D-2114-08	TCGA-HC-7742-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b134ed52-c6fa-45eb-a4af-1d84cbf013d8	c8565d71-27c7-400a-bd9b-97fd79a7e8e7	g.chr10:69881296G>T	ENST00000358913.5	+	2	589	c.101G>T	c.(100-102)cGa>cTa	p.R34L	MYPN_ENST00000373675.3_Missense_Mutation_p.R34L|MYPN_ENST00000354393.2_Intron|MYPN_ENST00000540630.1_Missense_Mutation_p.R34L	NM_001256267.1|NM_032578.3	NP_001243196.1|NP_115967.2	Q86TC9	MYPN_HUMAN	myopalladin	34	Interaction with CARP.				sarcomere organization (GO:0045214)	I band (GO:0031674)|nucleus (GO:0005634)|Z disc (GO:0030018)	cytoskeletal protein binding (GO:0008092)|muscle alpha-actinin binding (GO:0051371)|SH3 domain binding (GO:0017124)			breast(2)|central_nervous_system(1)|endometrium(13)|kidney(6)|large_intestine(13)|liver(1)|lung(43)|ovary(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(5)	94						GAGAGGAGTCGAGCGGAGCCC	0.522																																						ENST00000358913.5																			0				breast(2)|central_nervous_system(1)|endometrium(13)|kidney(6)|large_intestine(13)|liver(1)|lung(43)|ovary(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(5)	94						c.(100-102)cGa>cTa		myopalladin							60	57	58					10																	69881296		2203	4300	6503	SO:0001583	missense	84665					nucleus|sarcomere	actin binding	g.chr10:69881296G>T	AL834247	CCDS7275.1, CCDS73142.1	10q22.1	2014-09-17			ENSG00000138347	ENSG00000138347		"Immunoglobulin superfamily / I-set domain containing"	23246	protein-coding gene	gene with protein product	"sarcomeric protein myopalladin, 145 kDa"	608517				11309420, 12482578	Standard	NM_032578		Approved	MYOP	uc001jnm.5	Q86TC9	OTTHUMG00000018344	ENST00000358913.5:c.101G>T	10.37:g.69881296G>T	ENSP00000351790:p.Arg34Leu					MYPN_ENST00000540630.1_Missense_Mutation_p.R34L|MYPN_ENST00000354393.2_Intron|MYPN_ENST00000373675.3_Missense_Mutation_p.R34L	p.R34L	NM_001256267.1|NM_032578.3	NP_001243196.1|NP_115967.2	Q86TC9	MYPN_HUMAN			2	589	+			34			Interaction with CARP.		Q5VV35|Q5VV36|Q86T37|Q8N3L4|Q96K90|Q96KF5	Missense_Mutation	SNP	ENST00000358913.5	37	c.101G>T	CCDS7275.1	.	.	.	.	.	.	.	.	.	.	G	14.04	2.416646	0.42918	.	.	ENSG00000138347	ENST00000358913;ENST00000540630;ENST00000373675	T;T;T	0.62105	0.43;0.41;0.05	6.03	5.11	0.69529	.	0.131761	0.51477	N	0.000088	T	0.54870	0.1885	L	0.45581	1.43	0.48452	D	0.999655	B;B	0.10296	0.003;0.002	B;B	0.15052	0.012;0.005	T	0.49799	-0.8901	9	.	.	.	.	14.1802	0.65568	0.0:0.0:0.7278:0.2722	.	34;34	Q86TC9-3;Q86TC9	.;MYPN_HUMAN	L	34	ENSP00000351790:R34L;ENSP00000441668:R34L;ENSP00000362779:R34L	.	R	+	2	0	MYPN	69551302	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.330000	0.52068	1.506000	0.48736	0.655000	0.94253	CGA		0.522	MYPN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048307.1	NM_032578		3	77	1	0	0.115264	1	0.119308	3	77					T	69881296	G	T	69881296	3	4	214	1	0	0	0	0	1	0	0	0	10098	1058	37	5	103	5	MYPN	10	69881296	Missense_Mutation	SNP	G	TCGA-HC-7742-01A-11D-2114-08		69881296	65653451	27	9849											
SEC31B	25956	broad.mit.edu	37	chr10	102248628	102248628	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacttactaagtcagttgcaGacagggagcagcgttggaga	12	8	14	7	1	1	2	1	0	0	2	1	5	1	3	0	2	4	4	0	2	2	4			TCGA-HC-7742-01A-11D-2114-08	TCGA-HC-7742-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b134ed52-c6fa-45eb-a4af-1d84cbf013d8	c8565d71-27c7-400a-bd9b-97fd79a7e8e7	g.chr10:102248628G>T	ENST00000370345.3	-	24	3372	c.3275C>A	c.(3274-3276)tCt>tAt	p.S1092Y		NM_015490.3	NP_056305.1	Q9NQW1	SC31B_HUMAN	SEC31 homolog B (S. cerevisiae)	1092					protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|vesicle coat (GO:0030120)				NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(3)|lung(17)|ovary(1)|urinary_tract(1)	36		Colorectal(252;0.117)		Epithelial(162;2.36e-10)|all cancers(201;2.09e-08)		GTCAGTTGCAGACAGGGAGCA	0.577																																						ENST00000370345.3																			0				NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(3)|lung(17)|ovary(1)|urinary_tract(1)	36						c.(3274-3276)tCt>tAt		SEC31 homolog B (S. cerevisiae)							96	93	94					10																	102248628		2203	4300	6503	SO:0001583	missense	25956				protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane		g.chr10:102248628G>T	AF274863	CCDS7495.1	10q24.32	2013-01-10	2006-10-05	2006-09-07	ENSG00000075826	ENSG00000075826		"WD repeat domain containing"	23197	protein-coding gene	gene with protein product		610258	"SEC31-like 2 (S. cerevisiae)"	SEC31L2		16495487	Standard	NM_015490		Approved	SEC31B-1, DKFZP434M183	uc001krc.1	Q9NQW1	OTTHUMG00000019342	ENST00000370345.3:c.3275C>A	10.37:g.102248628G>T	ENSP00000359370:p.Ser1092Tyr						p.S1092Y	NM_015490.3	NP_056305.1	Q9NQW1	SC31B_HUMAN		Epithelial(162;2.36e-10)|all cancers(201;2.09e-08)	24	3372	-		Colorectal(252;0.117)	1092					B7ZM75|Q6MZS3|Q86UF0|Q9Y4Q8	Missense_Mutation	SNP	ENST00000370345.3	37	c.3275C>A	CCDS7495.1	.	.	.	.	.	.	.	.	.	.	G	11.17	1.558920	0.27827	.	.	ENSG00000075826	ENST00000370345	T	0.53640	0.61	4.92	3.98	0.46160	.	0.501251	0.22131	N	0.064185	T	0.58722	0.2142	M	0.71581	2.175	0.19775	N	0.999959	D;D	0.59767	0.986;0.976	P;P	0.62089	0.898;0.794	T	0.53099	-0.8486	10	0.72032	D	0.01	-5.3577	4.5124	0.11917	0.1781:0.2769:0.545:0.0	.	1091;1092	Q9NQW1-5;Q9NQW1	.;SC31B_HUMAN	Y	1092	ENSP00000359370:S1092Y	ENSP00000359370:S1092Y	S	-	2	0	SEC31B	102238618	0.985000	0.35326	0.887000	0.34795	0.048000	0.14542	1.651000	0.37302	1.194000	0.43101	0.561000	0.74099	TCT		0.577	SEC31B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051198.1	NM_015490		35	62	1	0	6.04917e-29	1	6.73399e-29	35	62					T	102248628	G	T	102248628	3	4	214	1	0	0	0	0	1	0	0	0	13999	942	33	5	276	5	SEC31B	10	102248628	Missense_Mutation	SNP	G	TCGA-HC-7742-01A-11D-2114-08	32367332	102248628	33286119	28	9850											
TSPAN4	7106	broad.mit.edu	37	chr11	864455	864455	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agttcttcctgctgctgctgCtggtgttcctgctggaggcc	2	14	13	12	0	1	0	0	0	1	0	3	1	3	1	3	3	5	7	3	3	0	3			TCGA-HC-7742-01A-11D-2114-08	TCGA-HC-7742-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b134ed52-c6fa-45eb-a4af-1d84cbf013d8	c8565d71-27c7-400a-bd9b-97fd79a7e8e7	g.chr11:864455C>G	ENST00000397404.1	+	5	533	c.274C>G	c.(274-276)Ctg>Gtg	p.L92V	TSPAN4_ENST00000397408.1_Missense_Mutation_p.L92V|TSPAN4_ENST00000525201.1_Missense_Mutation_p.L28V|TSPAN4_ENST00000397397.2_Missense_Mutation_p.L92V|TSPAN4_ENST00000397411.2_Missense_Mutation_p.L92V|TSPAN4_ENST00000397406.1_Missense_Mutation_p.L92V|TSPAN4_ENST00000409531.1_Missense_Mutation_p.L111V|TSPAN4_ENST00000409543.2_Missense_Mutation_p.L92V|TSPAN4_ENST00000346501.4_Missense_Mutation_p.L92V|TSPAN4_ENST00000397396.1_Missense_Mutation_p.L28V	NM_001025237.1	NP_001020408.1	O14817	TSN4_HUMAN	tetraspanin 4	92					protein complex assembly (GO:0006461)	focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	antigen binding (GO:0003823)|integrin binding (GO:0005178)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)	3		all_cancers(49;2.64e-08)|all_epithelial(84;4.17e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)|all_lung(207;0.24)		all cancers(45;4.32e-25)|Epithelial(43;3.29e-24)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GCTGCTGCTGCTGGTGTTCCT	0.672																																						ENST00000397404.1																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)	3						c.(274-276)Ctg>Gtg		tetraspanin 4							98	95	96					11																	864455		2203	4299	6502	SO:0001583	missense	0				protein complex assembly	integral to plasma membrane		g.chr11:864455C>G	AF022813	CCDS7721.1, CCDS41589.1	11p15.5	2013-02-14	2005-03-21	2005-03-21	ENSG00000214063	ENSG00000214063		"Tetraspanins"	11859	protein-coding gene	gene with protein product		602644	"transmembrane 4 superfamily member 7"	TM4SF7		9360996	Standard	XM_005253102		Approved	NAG-2, TSPAN-4, TETRASPAN	uc001lsf.1	O14817	OTTHUMG00000133305	ENST00000397404.1:c.274C>G	11.37:g.864455C>G	ENSP00000380553:p.Leu92Val					TSPAN4_ENST00000409531.1_Missense_Mutation_p.L111V|TSPAN4_ENST00000397396.1_Missense_Mutation_p.L28V|TSPAN4_ENST00000397411.2_Missense_Mutation_p.L92V|TSPAN4_ENST00000397406.1_Missense_Mutation_p.L92V|TSPAN4_ENST00000409543.2_Missense_Mutation_p.L92V|TSPAN4_ENST00000525201.1_Missense_Mutation_p.L28V|TSPAN4_ENST00000397397.2_Missense_Mutation_p.L92V|TSPAN4_ENST00000397408.1_Missense_Mutation_p.L92V|TSPAN4_ENST00000346501.4_Missense_Mutation_p.L92V	p.L92V	NM_001025237.1	NP_001020408.1	O14817	TSN4_HUMAN		all cancers(45;4.32e-25)|Epithelial(43;3.29e-24)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	5	533	+		all_cancers(49;2.64e-08)|all_epithelial(84;4.17e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)|all_lung(207;0.24)	92					Q6IAP6	Missense_Mutation	SNP	ENST00000397404.1	37	c.274C>G	CCDS7721.1	.	.	.	.	.	.	.	.	.	.	C	7.339	0.620549	0.14193	.	.	ENSG00000214063	ENST00000397397;ENST00000397411;ENST00000397396;ENST00000397408;ENST00000525334;ENST00000397406;ENST00000409543;ENST00000525201;ENST00000397404;ENST00000532375;ENST00000346501;ENST00000409531;ENST00000527644	T;T;T;T;T;T;T;T;T;T;T;T;T	0.80304	-1.36;-1.36;-1.36;-1.36;-1.36;-1.36;-1.36;-1.36;-1.36;-1.36;-1.36;-1.36;-1.36	3.04	1.98	0.26296	.	0.388801	0.23310	N	0.049564	T	0.54431	0.1858	N	0.04508	-0.205	0.32506	N	0.538191	B	0.12013	0.005	B	0.15870	0.014	T	0.53493	-0.8431	10	0.17369	T	0.5	.	6.829	0.23898	0.4405:0.5595:0.0:0.0	.	92	O14817	TSN4_HUMAN	V	92;92;28;92;28;92;92;28;92;28;92;111;92	ENSP00000380552:L92V;ENSP00000380558:L92V;ENSP00000380551:L28V;ENSP00000380555:L92V;ENSP00000433980:L28V;ENSP00000380554:L92V;ENSP00000386513:L92V;ENSP00000431943:L28V;ENSP00000380553:L92V;ENSP00000434818:L28V;ENSP00000324304:L92V;ENSP00000386899:L111V;ENSP00000436260:L92V	ENSP00000324304:L92V	L	+	1	2	TSPAN4	854455	0.162000	0.22906	1.000000	0.80357	0.819000	0.46315	0.131000	0.15870	1.557000	0.49525	0.313000	0.20887	CTG		0.672	TSPAN4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257102.2			4	180	0	0	0	1	0	4	180					G	864455	C	G	864455	3	3	214	1	0	0	0	0	1	0	0	0	16646	796	28	5	284	5	TSPAN4	11	864455	Missense_Mutation	SNP	C	TCGA-HC-7742-01A-11D-2114-08		864455	134142061	29	9851											
TRPM5	29850	broad.mit.edu	37	chr11	2432663	2432663	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcggaagatccactccaggcGgccgtcatgggggtgcagca	8	5	16	12	3	1	1	1	0	0	1	3	2	3	2	3	5	2	2	3	5	1	0	rs367824428		TCGA-HC-7742-01A-11D-2114-08	TCGA-HC-7742-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b134ed52-c6fa-45eb-a4af-1d84cbf013d8	c8565d71-27c7-400a-bd9b-97fd79a7e8e7	g.chr11:2432663G>A	ENST00000155858.6	-	18	2709	c.2701C>T	c.(2701-2703)Cgc>Tgc	p.R901C	TRPM5_ENST00000528453.1_Missense_Mutation_p.R901C|TRPM5_ENST00000452833.1_Missense_Mutation_p.R903C|TRPM5_ENST00000533060.1_Missense_Mutation_p.R901C	NM_014555.3	NP_055370.1			transient receptor potential cation channel, subfamily M, member 5											breast(1)|central_nervous_system(1)|endometrium(4)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(2)|urinary_tract(2)	23		Medulloblastoma(188;0.0049)|Breast(177;0.00586)|all_epithelial(84;0.0075)|Ovarian(85;0.0256)|all_neural(188;0.0311)		BRCA - Breast invasive adenocarcinoma(625;0.00147)|LUSC - Lung squamous cell carcinoma(625;0.191)		CACTCCAGGCGGCCGTCATGG	0.617																																					NSCLC(1;49 61 17205 18850 43201)	ENST00000452833.1																			0				breast(1)|central_nervous_system(1)|endometrium(4)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(2)|urinary_tract(2)	23						c.(2707-2709)Cgc>Tgc		transient receptor potential cation channel, subfamily M, member 5		G	CYS/ARG	0,4396		0,0,2198	33	37	36		2701	3.9	1	11		36	1,8587	1.2+/-3.3	0,1,4293	no	missense	TRPM5	NM_014555.3	180	0,1,6491	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	901/1166	2432663	1,12983	2198	4294	6492	SO:0001583	missense	29850					integral to membrane|plasma membrane	receptor activity|voltage-gated ion channel activity	g.chr11:2432663G>A	AF177473	CCDS31340.1	11p15.5	2011-12-14			ENSG00000070985	ENSG00000070985		"Voltage-gated ion channels / Transient receptor potential cation channels"	14323	protein-coding gene	gene with protein product		604600				10607831, 16382100	Standard	NM_014555		Approved	LTRPC5, MTR1	uc001lwm.4	Q9NZQ8	OTTHUMG00000009896	ENST00000155858.6:c.2701C>T	11.37:g.2432663G>A	ENSP00000155858:p.Arg901Cys					TRPM5_ENST00000155858.6_Missense_Mutation_p.R901C|TRPM5_ENST00000533060.1_Missense_Mutation_p.R901C|TRPM5_ENST00000528453.1_Missense_Mutation_p.R901C	p.R903C			Q9NZQ8	TRPM5_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00147)|LUSC - Lung squamous cell carcinoma(625;0.191)	18	2715	-		Medulloblastoma(188;0.0049)|Breast(177;0.00586)|all_epithelial(84;0.0075)|Ovarian(85;0.0256)|all_neural(188;0.0311)	901						Missense_Mutation	SNP	ENST00000155858.6	37	c.2707C>T	CCDS31340.1	.	.	.	.	.	.	.	.	.	.	G	18.06	3.538341	0.65085	0.0	1.16E-4	ENSG00000070985	ENST00000533881;ENST00000155858;ENST00000452833;ENST00000533060;ENST00000528453	T;T;T;T;T	0.78481	-1.18;-1.18;-1.18;-1.18;-1.18	3.89	3.89	0.44902	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.86768	0.6012	M	0.73962	2.25	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.74674	0.984;0.984;0.969	D	0.88464	0.3057	10	0.59425	D	0.04	-23.2025	15.2605	0.73617	0.0:0.0:1.0:0.0	.	901;903;901	E9PRW0;Q9NZQ8-2;Q9NZQ8	.;.;TRPM5_HUMAN	C	895;901;903;901;901	ENSP00000434383:R895C;ENSP00000155858:R901C;ENSP00000387965:R903C;ENSP00000434121:R901C;ENSP00000436809:R901C	ENSP00000155858:R901C	R	-	1	0	TRPM5	2389239	1.000000	0.71417	0.971000	0.41717	0.880000	0.50808	4.748000	0.62148	1.928000	0.55862	0.561000	0.74099	CGC		0.617	TRPM5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000027378.1	NM_014555		19	27	0	0	0	1	0	19	27					A	2432663	G	A	2432663	3	1	214	1	0	0	0	0	1	0	0	0	16586	1116	39	2	824	2	TRPM5	11	2432663	Missense_Mutation	SNP	G	TCGA-HC-7742-01A-11D-2114-08	1568208	2432663	132573853	30	9852											
RAG1	5896	broad.mit.edu	37	chr11	36595849	36595849	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cagctattgtccctcttgccGatatccatgcttccctactg	6	14	6	15	1	1	0	0	0	1	0	4	1	4	0	4	0	4	2	4	0	3	6			TCGA-HC-7742-01A-11D-2114-08	TCGA-HC-7742-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b134ed52-c6fa-45eb-a4af-1d84cbf013d8	c8565d71-27c7-400a-bd9b-97fd79a7e8e7	g.chr11:36595849G>A	ENST00000299440.5	+	2	1107	c.995G>A	c.(994-996)cGa>cAa	p.R332Q		NM_000448.2	NP_000439	P15918	RAG1_HUMAN	recombination activating gene 1	332					adaptive immune response (GO:0002250)|B cell differentiation (GO:0030183)|DNA recombination (GO:0006310)|histone monoubiquitination (GO:0010390)|immune response (GO:0006955)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of thymocyte apoptotic process (GO:0070244)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|pre-B cell allelic exclusion (GO:0002331)|protein autoubiquitination (GO:0051865)|regulation of T cell differentiation (GO:0045580)|T cell differentiation in thymus (GO:0033077)|T cell homeostasis (GO:0043029)|thymus development (GO:0048538)|V(D)J recombination (GO:0033151)	nucleus (GO:0005634)	acid-amino acid ligase activity (GO:0016881)|DNA binding (GO:0003677)|endonuclease activity (GO:0004519)|histone binding (GO:0042393)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding (GO:0043565)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	65	all_lung(20;0.226)	all_hematologic(20;0.107)				CCCTCTTGCCGATATCCATGC	0.498									Familial Hemophagocytic Lymphohistiocytosis																												Pancreas(43;321 1249 3212 48200)|Esophageal Squamous(38;49 1003 17530 24363)	ENST00000299440.5																			0				NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	65						c.(994-996)cGa>cAa		recombination activating gene 1							76	70	72					11																	36595849		2202	4298	6500	SO:0001583	missense	5896	Familial Hemophagocytic Lymphohistiocytosis	Familial Cancer Database	FHLH, FHL, Familial Hemophagocytic Reticulosis, FHR	histone monoubiquitination|immune response|pre-B cell allelic exclusion|protein autoubiquitination|T cell differentiation in thymus|V(D)J recombination	nucleus	endonuclease activity|histone binding|protein homodimerization activity|sequence-specific DNA binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr11:36595849G>A	M29474	CCDS7902.1	11p13	2014-09-17				ENSG00000166349		"RING-type (C3HC4) zinc fingers"	9831	protein-coding gene	gene with protein product	"recombination activating protein 1", "RING finger protein 74", "V(D)J recombination-activating protein 1"	179615				1612612, 1283330	Standard	NM_000448		Approved	RNF74, MGC43321	uc001mwu.4	P15918		ENST00000299440.5:c.995G>A	11.37:g.36595849G>A	ENSP00000299440:p.Arg332Gln						p.R332Q	NM_000448.2	NP_000439.1	P15918	RAG1_HUMAN			2	1107	+	all_lung(20;0.226)	all_hematologic(20;0.107)	332					E9PPC4|Q8IY72|Q8NER2	Missense_Mutation	SNP	ENST00000299440.5	37	c.995G>A	CCDS7902.1	.	.	.	.	.	.	.	.	.	.	G	9.981	1.228134	0.22542	.	.	ENSG00000166349	ENST00000534663;ENST00000299440	T;T	0.78707	-1.2;-1.2	5.39	-4.16	0.03869	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (1);	0.707573	0.13609	N	0.375233	T	0.69251	0.3090	L	0.55017	1.72	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.57112	-0.7867	10	0.48119	T	0.1	.	12.9233	0.58245	0.5646:0.0:0.4354:0.0	.	332	P15918	RAG1_HUMAN	Q	332	ENSP00000434610:R332Q;ENSP00000299440:R332Q	ENSP00000299440:R332Q	R	+	2	0	RAG1	36552425	0.000000	0.05858	0.005000	0.12908	0.984000	0.73092	-0.126000	0.10563	-0.761000	0.04670	-0.312000	0.09012	CGA		0.498	RAG1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389535.1	NM_000448		25	43	0	0	0	1	0	25	43					A	36595849	G	A	36595849	3	1	214	1	0	0	0	0	1	0	0	0	13003	1058	37	2	997	2	RAG1	11	36595849	Missense_Mutation	SNP	G	TCGA-HC-7742-01A-11D-2114-08	34163186	36595849	98410667	31	9853											
USP2	9099	broad.mit.edu	37	chr11	119227592	119227592	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcgtagaagagcaggtaggCgtcgctggtgcgcacttggc	7	9	16	9	4	0	2	0	0	0	2	2	2	0	2	0	4	2	5	0	4	3	4			TCGA-HC-7742-01A-11D-2114-08	TCGA-HC-7742-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b134ed52-c6fa-45eb-a4af-1d84cbf013d8	c8565d71-27c7-400a-bd9b-97fd79a7e8e7	g.chr11:119227592C>T	ENST00000260187.2	-	13	2065	c.1771G>A	c.(1771-1773)Gcc>Acc	p.A591T	USP2_ENST00000455332.2_Missense_Mutation_p.A348T|USP2_ENST00000525735.1_Missense_Mutation_p.A382T	NM_004205.4	NP_004196.4	O75604	UBP2_HUMAN	ubiquitin specific peptidase 2	591	USP.				cell cycle (GO:0007049)|muscle organ development (GO:0007517)|negative regulation of skeletal muscle tissue development (GO:0048642)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of skeletal muscle tissue development (GO:0048643)|protein deubiquitination (GO:0016579)|protein stabilization (GO:0050821)|ubiquitin-dependent protein catabolic process (GO:0006511)	cell cortex (GO:0005938)|centrosome (GO:0005813)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	cyclin binding (GO:0030332)|cysteine-type endopeptidase activity (GO:0004197)|metal ion binding (GO:0046872)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			breast(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1)	24		all_hematologic(192;4.65e-05)|Breast(348;0.0101)|all_neural(223;0.0218)|Medulloblastoma(222;0.0425)|Renal(330;0.157)		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.000513)|Colorectal(284;0.0116)|Lung(307;0.0853)|LUSC - Lung squamous cell carcinoma(976;0.0889)		AGCAGGTAGGCGTCGCTGGTG	0.692											OREG0021404	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000260187.2																			0				breast(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1)	24						c.(1771-1773)Gcc>Acc		ubiquitin specific peptidase 2							35	28	30					11																	119227592		2182	4271	6453	SO:0001583	missense	9099				cell cycle|muscle organ development|negative regulation of transcription from RNA polymerase II promoter|positive regulation of mitotic cell cycle|protein deubiquitination|protein stabilization|ubiquitin-dependent protein catabolic process	nucleus|perinuclear region of cytoplasm	cyclin binding|cysteine-type endopeptidase activity|metal ion binding|ubiquitin protein ligase binding|ubiquitin thiolesterase activity	g.chr11:119227592C>T	AF079564	CCDS8422.1, CCDS8423.1, CCDS58189.1	11q23.3	2008-02-05	2005-08-08			ENSG00000036672		"Ubiquitin-specific peptidases"	12618	protein-coding gene	gene with protein product		604725	"ubiquitin specific protease 2"			12838346	Standard	NM_004205		Approved	UBP41	uc001pwm.4	O75604		ENST00000260187.2:c.1771G>A	11.37:g.119227592C>T	ENSP00000260187:p.Ala591Thr		OREG0021404	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1494	USP2_ENST00000525735.1_Missense_Mutation_p.A382T|USP2_ENST00000455332.2_Missense_Mutation_p.A348T	p.A591T	NM_004205.4	NP_004196.4	O75604	UBP2_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.000513)|Colorectal(284;0.0116)|Lung(307;0.0853)|LUSC - Lung squamous cell carcinoma(976;0.0889)	13	2065	-		all_hematologic(192;4.65e-05)|Breast(348;0.0101)|all_neural(223;0.0218)|Medulloblastoma(222;0.0425)|Renal(330;0.157)	591					B0YJB8|E9PPM2|Q8IUM2|Q8IW04|Q96MB9|Q9BQ21	Missense_Mutation	SNP	ENST00000260187.2	37	c.1771G>A	CCDS8422.1	.	.	.	.	.	.	.	.	.	.	C	36	5.792882	0.96952	.	.	ENSG00000036672	ENST00000455332;ENST00000260187;ENST00000392808;ENST00000525735	T;T;T	0.07216	3.21;3.21;3.21	5.65	5.65	0.86999	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.000000	0.85682	D	0.000000	T	0.45054	0.1323	H	0.96015	3.755	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.87578	0.917;0.998;0.994	T	0.61955	-0.6956	10	0.87932	D	0	-7.3935	18.7167	0.91678	0.0:1.0:0.0:0.0	.	348;591;382	E9PPM2;O75604;O75604-4	.;UBP2_HUMAN;.	T	348;591;338;382	ENSP00000407842:A348T;ENSP00000260187:A591T;ENSP00000436952:A382T	ENSP00000260187:A591T	A	-	1	0	USP2	118732802	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.539000	0.67199	2.664000	0.90586	0.650000	0.86243	GCC		0.692	USP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388361.2	NM_171997		4	4	0	0	0	1	0	4	4					T	119227592	C	T	119227592	3	4	214	1	0	0	0	0	1	0	0	0	17048	768	27	1	50	1	USP2	11	119227592	Missense_Mutation	SNP	C	TCGA-HC-7742-01A-11D-2114-08	82631743	119227592	15778924	32	9854											
TMEM132B	114795	broad.mit.edu	37	chr12	126138738	126138738	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcatgtatgccttgctctgcGtcttctgtctggccattctg	3	16	10	12	1	5	0	0	0	5	0	5	0	5	0	2	1	3	3	2	1	1	4			TCGA-HC-7742-01A-11D-2114-08	TCGA-HC-7742-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b134ed52-c6fa-45eb-a4af-1d84cbf013d8	c8565d71-27c7-400a-bd9b-97fd79a7e8e7	g.chr12:126138738G>A	ENST00000299308.3	+	9	2727	c.2719G>A	c.(2719-2721)Gtc>Atc	p.V907I	TMEM132B_ENST00000535886.1_Missense_Mutation_p.V419I	NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN	transmembrane protein 132B	907						integral component of membrane (GO:0016021)				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		CTTGCTCTGCGTCTTCTGTCT	0.522																																						ENST00000299308.3																			0				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107						c.(2719-2721)Gtc>Atc		transmembrane protein 132B							98	96	97					12																	126138738		2038	4218	6256	SO:0001583	missense	114795					integral to membrane		g.chr12:126138738G>A	AB067493	CCDS41859.1, CCDS66501.1	12q24.31	2006-03-02							29397	protein-coding gene	gene with protein product						11572484	Standard	NM_001286219		Approved	KIAA1906, KIAA1786	uc001uhe.1	Q14DG7		ENST00000299308.3:c.2719G>A	12.37:g.126138738G>A	ENSP00000299308:p.Val907Ile					TMEM132B_ENST00000535886.1_Missense_Mutation_p.V419I	p.V907I	NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)	9	2727	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		907					A2RRG8|Q8NA73|Q96JN9|Q96PY1	Missense_Mutation	SNP	ENST00000299308.3	37	c.2719G>A	CCDS41859.1	.	.	.	.	.	.	.	.	.	.	G	26.3	4.720217	0.89205	.	.	ENSG00000139364	ENST00000299308;ENST00000535886	T;T	0.21031	2.03;2.03	5.43	5.43	0.79202	.	0.107006	0.41294	N	0.000908	T	0.40372	0.1114	L	0.39467	1.215	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.06991	-1.0796	10	0.45353	T	0.12	.	19.2594	0.93961	0.0:0.0:1.0:0.0	.	907	Q14DG7	T132B_HUMAN	I	907;419	ENSP00000299308:V907I;ENSP00000440436:V419I	ENSP00000299308:V907I	V	+	1	0	TMEM132B	124704691	1.000000	0.71417	0.985000	0.45067	0.895000	0.52256	7.748000	0.85085	2.543000	0.85770	0.655000	0.94253	GTC		0.522	TMEM132B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000400043.1	NM_052907		26	57	0	0	0	1	0	26	57					A	126138738	G	A	126138738	3	1	214	1	0	0	0	0	1	0	0	0	16043	1145	40	1	2753	1	TMEM132B	12	126138738	Missense_Mutation	SNP	G	TCGA-HC-7742-01A-11D-2114-08		126138738	7713157	33	9855											
TSC22D1	8848	broad.mit.edu	37	chr13	45148696	45148696	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agagctggttgttgctgttgTtgttgttgttgctgctgctg	2	19	15	5	0	0	1	0	0	0	1	0	1	0	1	0	1	5	12	0	1	0	7			TCGA-HC-7742-01A-11D-2114-08	TCGA-HC-7742-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b134ed52-c6fa-45eb-a4af-1d84cbf013d8	c8565d71-27c7-400a-bd9b-97fd79a7e8e7	g.chr13:45148696T>C	ENST00000458659.2	-	1	2005	c.1515A>G	c.(1513-1515)caA>caG	p.Q505Q	TSC22D1_ENST00000501704.2_Silent_p.Q505Q|TSC22D1_ENST00000460842.1_5'Flank	NM_183422.3	NP_904358.2	Q15714	T22D1_HUMAN	TSC22 domain family, member 1	505	Gln-rich.				negative regulation of apoptotic process (GO:0043066)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell proliferation (GO:0008284)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_hematologic(4;8.74e-08)|Acute lymphoblastic leukemia(4;1.78e-07)|Lung NSC(96;2.21e-05)|Breast(139;0.000625)|Prostate(109;0.000947)|Hepatocellular(98;0.0202)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;0.000522)|BRCA - Breast invasive adenocarcinoma(63;0.118)		gttgctgttgttgttgttgtt	0.507																																						ENST00000458659.2																			0				breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(1513-1515)caA>caG		TSC22 domain family, member 1							86	86	86					13																	45148696		2203	4300	6503	SO:0001819	synonymous_variant	8848				transcription from RNA polymerase II promoter	cytoplasm|nucleus	protein binding|sequence-specific DNA binding transcription factor activity	g.chr13:45148696T>C	AJ222700	CCDS9392.1, CCDS31966.1, CCDS58291.1, CCDS73565.1	13q14	2008-02-05	2005-03-01	2005-03-03	ENSG00000102804	ENSG00000102804			16826	protein-coding gene	gene with protein product		607715	"transforming growth factor beta 1 induced transcript 4"	TGFB1I4		8651929, 9022669	Standard	NM_183422		Approved	TSC22, MGC17597	uc001uzn.4	Q15714	OTTHUMG00000016838	ENST00000458659.2:c.1515A>G	13.37:g.45148696T>C						TSC22D1_ENST00000501704.2_Silent_p.Q505Q	p.Q505Q	NM_183422.3	NP_904358.2	Q15714	T22D1_HUMAN		GBM - Glioblastoma multiforme(144;0.000522)|BRCA - Breast invasive adenocarcinoma(63;0.118)	1	2005	-		all_hematologic(4;8.74e-08)|Acute lymphoblastic leukemia(4;1.78e-07)|Lung NSC(96;2.21e-05)|Breast(139;0.000625)|Prostate(109;0.000947)|Hepatocellular(98;0.0202)|Lung SC(185;0.0262)	505			Gln-rich.		B3KRL7|B9EGI0|O00666|Q6AHX5|Q6IBU1|Q8NCN1|Q96JS5	Silent	SNP	ENST00000458659.2	37	c.1515A>G	CCDS31966.1																																																																																				0.507	TSC22D1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000044743.2	NM_006022		42	80	0	0	0	1	0	42	80					C	45148696	T	C	45148696	2	2	214	1	0	0	0	0	0	0	0	1	16604	1722	60	4		4	TSC22D1	13	45148696	Silent	SNP	T	TCGA-HC-7742-01A-11D-2114-08		45148696	70021182	34	9856											
PACS2	23241	broad.mit.edu	37	chr14	105849745	105849745	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ccgtgaagatcgccgtggcgGgagcgcagcattacctcagt	8	7	14	12	5	1	2	1	1	0	1	2	3	1	3	3	2	3	2	3	2	2	1			TCGA-HC-7742-01A-11D-2114-08	TCGA-HC-7742-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b134ed52-c6fa-45eb-a4af-1d84cbf013d8	c8565d71-27c7-400a-bd9b-97fd79a7e8e7	g.chr14:105849745G>A	ENST00000325438.8	+	16	2167	c.1663G>A	c.(1663-1665)Gga>Aga	p.G555R	PACS2_ENST00000447393.1_Missense_Mutation_p.G559R|PACS2_ENST00000430725.2_Missense_Mutation_p.G480R|PACS2_ENST00000551743.1_Missense_Mutation_p.G69R|PACS2_ENST00000547217.1_Missense_Mutation_p.G525R|PACS2_ENST00000458164.2_Missense_Mutation_p.G559R			Q86VP3	PACS2_HUMAN	phosphofurin acidic cluster sorting protein 2	555					apoptotic process (GO:0006915)|autophagic vacuole assembly (GO:0000045)|protein localization to pre-autophagosomal structure (GO:0034497)|protein targeting to plasma membrane (GO:0072661)|viral process (GO:0016032)	endoplasmic reticulum (GO:0005783)|mitochondrion (GO:0005739)				endometrium(2)|kidney(2)|lung(7)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	21		all_cancers(154;0.0351)|all_epithelial(191;0.153)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.0145)|Epithelial(46;0.036)	Epithelial(152;0.138)		CGCCGTGGCGGGAGCGCAGCA	0.642																																						ENST00000447393.1																			0				endometrium(2)|kidney(2)|lung(7)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	21						c.(1675-1677)Gga>Aga		phosphofurin acidic cluster sorting protein 2							64	64	64					14																	105849745		2203	4300	6503	SO:0001583	missense	23241				apoptosis|interspecies interaction between organisms	endoplasmic reticulum lumen|mitochondrion		g.chr14:105849745G>A	AB011174	CCDS32168.1, CCDS45178.1, CCDS45178.2, CCDS58339.1	14q32	2005-02-15	2005-02-15	2005-02-15		ENSG00000179364			23794	protein-coding gene	gene with protein product		610423	"phosphofurin acidic cluster sorting protein 1-like"	PACS1L		15692567	Standard	NM_001100913		Approved	KIAA0602	uc001yqu.3	Q86VP3	OTTHUMG00000170450	ENST00000325438.8:c.1663G>A	14.37:g.105849745G>A	ENSP00000321834:p.Gly555Arg					PACS2_ENST00000551743.1_Missense_Mutation_p.G69R|PACS2_ENST00000547217.1_Missense_Mutation_p.G525R|PACS2_ENST00000430725.2_Missense_Mutation_p.G480R|PACS2_ENST00000458164.2_Missense_Mutation_p.G559R|PACS2_ENST00000325438.8_Missense_Mutation_p.G555R	p.G559R	NM_015197.3	NP_056012.2	Q86VP3	PACS2_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.0145)|Epithelial(46;0.036)	Epithelial(152;0.138)	16	1850	+		all_cancers(154;0.0351)|all_epithelial(191;0.153)|Melanoma(154;0.155)	555					A2VDJ9|G8JLK3|O60342|Q6P191|Q96FL7	Missense_Mutation	SNP	ENST00000325438.8	37	c.1675G>A	CCDS32168.1	.	.	.	.	.	.	.	.	.	.	G	24.6	4.550940	0.86127	.	.	ENSG00000179364	ENST00000430725;ENST00000325438;ENST00000458164;ENST00000447393;ENST00000547217;ENST00000551743	T;T;T;T;T;T	0.70164	-0.46;-0.46;-0.46;-0.46;-0.46;-0.46	4.17	4.17	0.49024	.	0.000000	0.85682	D	0.000000	D	0.82967	0.5152	M	0.86178	2.8	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;0.999;1.0	D;D;D;D	0.97110	0.994;0.99;0.973;1.0	D	0.86651	0.1898	10	0.87932	D	0	-30.4412	15.3881	0.74718	0.0:0.0:1.0:0.0	.	559;559;555;556	E9PB38;Q86VP3-2;Q86VP3;Q86VP3-3	.;.;PACS2_HUMAN;.	R	480;555;559;559;525;69	ENSP00000393524:G480R;ENSP00000321834:G555R;ENSP00000399732:G559R;ENSP00000393559:G559R;ENSP00000449525:G525R;ENSP00000449254:G69R	ENSP00000321834:G555R	G	+	1	0	PACS2	104920790	1.000000	0.71417	0.803000	0.32268	0.942000	0.58702	9.594000	0.98254	2.037000	0.60232	0.462000	0.41574	GGA		0.642	PACS2-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000409209.1	XM_377355		3	111	0	0	0	1	0	3	111					A	105849745	G	A	105849745	3	1	214	1	0	0	0	0	1	0	0	0	11373	1233	43	3	1737	3	PACS2	14	105849745	Missense_Mutation	SNP	G	TCGA-HC-7742-01A-11D-2114-08		105849745	1499795	35	9857											
IGDCC3	9543	broad.mit.edu	37	chr15	65667629	65667629	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cattcttcctccaggtgattCgcactggaggggtcccctcc	5	11	10	15	1	1	1	0	1	1	0	6	2	5	2	5	4	0	1	5	4	0	3			TCGA-HC-7742-01A-11D-2114-08	TCGA-HC-7742-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b134ed52-c6fa-45eb-a4af-1d84cbf013d8	c8565d71-27c7-400a-bd9b-97fd79a7e8e7	g.chr15:65667629C>T	ENST00000327987.4	-	2	466	c.215G>A	c.(214-216)cGa>cAa	p.R72Q		NM_004884.3	NP_004875.2	Q8IVU1	IGDC3_HUMAN	immunoglobulin superfamily, DCC subclass, member 3	72	Ig-like C2-type 1.				neuromuscular process controlling balance (GO:0050885)	integral component of plasma membrane (GO:0005887)				breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(9)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						CCAGGTGATTCGCACTGGAGG	0.592																																						ENST00000327987.4																			0				breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(9)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						c.(214-216)cGa>cAa		immunoglobulin superfamily, DCC subclass, member 3							71	53	59					15																	65667629		2201	4299	6500	SO:0001583	missense	9543							g.chr15:65667629C>T	AF063936	CCDS10205.1	15q22.3-q23	2013-02-11	2009-01-08	2009-01-08	ENSG00000174498	ENSG00000174498		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	9700	protein-coding gene	gene with protein product		604184	"putative neuronal cell adhesion molecule"	PUNC		9922388	Standard	NM_004884		Approved	HsT18880	uc002aos.2	Q8IVU1	OTTHUMG00000133137	ENST00000327987.4:c.215G>A	15.37:g.65667629C>T	ENSP00000332773:p.Arg72Gln						p.R72Q	NM_004884.3	NP_004875.2	Q8IVU1	IGDC3_HUMAN			2	466	-			72			Ig-like C2-type 1.		O95215	Missense_Mutation	SNP	ENST00000327987.4	37	c.215G>A	CCDS10205.1	.	.	.	.	.	.	.	.	.	.	C	5.030	0.191255	0.09547	.	.	ENSG00000174498	ENST00000327987	T	0.65916	-0.18	5.63	2.74	0.32292	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.521330	0.16320	N	0.219604	T	0.41119	0.1145	N	0.17764	0.52	0.23776	N	0.996878	B	0.18310	0.027	B	0.15052	0.012	T	0.19976	-1.0289	10	0.21014	T	0.42	-0.948	6.6442	0.22927	0.0:0.5582:0.2219:0.22	.	72	Q8IVU1	IGDC3_HUMAN	Q	72	ENSP00000332773:R72Q	ENSP00000332773:R72Q	R	-	2	0	IGDCC3	63454682	1.000000	0.71417	0.965000	0.40720	0.169000	0.22640	1.257000	0.32932	0.319000	0.23209	-0.137000	0.14449	CGA		0.592	IGDCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256826.1	NM_004884		13	32	0	0	0	1	0	13	32					T	65667629	C	T	65667629	3	4	214	1	0	0	0	0	1	0	0	0	7568	884	31	2	2281	2	IGDCC3	15	65667629	Missense_Mutation	SNP	C	TCGA-HC-7742-01A-11D-2114-08		65667629	36863763	36	9858											
TMEM102	284114	broad.mit.edu	37	chr17	7340279	7340279	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gtggtgtccgtggcgggctgGcccgagggggctcggagcca	3	6	21	11	4	0	0	0	0	0	0	2	2	1	1	3	7	1	2	3	7	0	0			TCGA-HC-7742-01A-11D-2114-08	TCGA-HC-7742-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b134ed52-c6fa-45eb-a4af-1d84cbf013d8	c8565d71-27c7-400a-bd9b-97fd79a7e8e7	g.chr17:7340279G>T	ENST00000323206.1	+	3	1254	c.981G>T	c.(979-981)tgG>tgT	p.W327C	FGF11_ENST00000293829.4_5'Flank|RP11-104H15.8_ENST00000576615.1_RNA|RP11-104H15.9_ENST00000570444.1_RNA|TMEM102_ENST00000396568.1_Missense_Mutation_p.W327C|RP11-104H15.10_ENST00000575331.1_RNA|FGF11_ENST00000572907.1_5'Flank|RP11-104H15.7_ENST00000575310.1_RNA|FGF11_ENST00000575235.1_5'Flank	NM_178518.2	NP_848613.1	Q8N9M5	TM102_HUMAN	transmembrane protein 102	327					apoptotic process (GO:0006915)|positive regulation of cell adhesion (GO:0045785)|positive regulation of T cell chemotaxis (GO:0010820)|positive regulation of T cell migration (GO:2000406)|regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway (GO:1901028)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to cytokine (GO:0034097)|signal transduction (GO:0007165)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|protein complex (GO:0043234)				kidney(1)|lung(3)|skin(1)	5		Prostate(122;0.173)				TGGCGGGCTGGCCCGAGGGGG	0.726																																						ENST00000323206.1																			0				kidney(1)|lung(3)|skin(1)	5						c.(979-981)tgG>tgT		transmembrane protein 102							7	9	8					17																	7340279		2039	4027	6066	SO:0001583	missense	284114				regulation of apoptosis|response to cytokine stimulus|signal transduction	cell surface|integral to membrane|intracellular	protein binding	g.chr17:7340279G>T	AK094197	CCDS11104.1	17p13.1	2008-04-21			ENSG00000181284	ENSG00000181284			26722	protein-coding gene	gene with protein product		613936				12477932	Standard	NM_178518		Approved	FLJ36878	uc002ggx.1	Q8N9M5	OTTHUMG00000132901	ENST00000323206.1:c.981G>T	17.37:g.7340279G>T	ENSP00000315387:p.Trp327Cys					TMEM102_ENST00000396568.1_Missense_Mutation_p.W327C|RP11-104H15.7_ENST00000575310.1_RNA|RP11-104H15.9_ENST00000570444.1_RNA	p.W327C	NM_178518.2	NP_848613.1	Q8N9M5	TM102_HUMAN			3	1254	+		Prostate(122;0.173)	327					D3DTP8	Missense_Mutation	SNP	ENST00000323206.1	37	c.981G>T	CCDS11104.1	.	.	.	.	.	.	.	.	.	.	G	20.1	3.937682	0.73557	.	.	ENSG00000181284	ENST00000323206;ENST00000396568	T;T	0.22743	1.94;1.94	5.18	5.18	0.71444	.	0.000000	0.47093	D	0.000249	T	0.41789	0.1174	L	0.54323	1.7	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.24584	-1.0156	10	0.87932	D	0	-8.2316	14.1772	0.65549	0.0:0.0:1.0:0.0	.	327	Q8N9M5	TM102_HUMAN	C	327	ENSP00000315387:W327C;ENSP00000379815:W327C	ENSP00000315387:W327C	W	+	3	0	TMEM102	7281003	1.000000	0.71417	1.000000	0.80357	0.811000	0.45836	6.027000	0.70881	2.412000	0.81896	0.462000	0.41574	TGG		0.726	TMEM102-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256405.1	NM_178518		3	18	1	0	0.000602214	1	0.000634476	3	18					T	7340279	G	T	7340279	3	4	214	1	0	0	0	0	1	0	0	0	16014	1212	42	5	987	5	TMEM102	17	7340279	Missense_Mutation	SNP	G	TCGA-HC-7742-01A-11D-2114-08		7340279	73854931	37	9859											
TP53	7157	broad.mit.edu	37	chr17	7578222	7578223	+	Frame_Shift_Del	DEL	TC	TC	-																															acactatgtcgaaaagtgttTctgtcatccaaatactccac																										TCGA-HC-7742-01A-11D-2114-08	TCGA-HC-7742-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b134ed52-c6fa-45eb-a4af-1d84cbf013d8	c8565d71-27c7-400a-bd9b-97fd79a7e8e7	g.chr17:7578222_7578223delTC	ENST00000269305.4	-	6	815_816	c.626_627delGA	c.(625-627)agafs	p.R209fs	TP53_ENST00000359597.4_Frame_Shift_Del_p.R209fs|TP53_ENST00000420246.2_Frame_Shift_Del_p.R209fs|TP53_ENST00000413465.2_Frame_Shift_Del_p.R209fs|TP53_ENST00000574684.1_Intron|TP53_ENST00000445888.2_Frame_Shift_Del_p.R209fs|TP53_ENST00000455263.2_Frame_Shift_Del_p.R209fs	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	209	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		R -> I (in sporadic cancers; somatic mutation).|R -> K (in sporadic cancers; somatic mutation).|R -> S (in a sporadic cancer; somatic mutation).|R -> T (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R209fs*6(38)|p.0?(8)|p.R209K(7)|p.?(5)|p.R209T(3)|p.R77fs*6(2)|p.R209fs*35(2)|p.D207fs*6(2)|p.R209fs*38(2)|p.R116fs*6(2)|p.R77K(1)|p.R116K(1)|p.E204_N210delEYLDDRN(1)|p.R209fs*36(1)|p.D207_R213delDDRNTFR(1)|p.D208_V216delDRNTFRHSV(1)|p.D208fs*1(1)|p.N210fs*7(1)|p.R209S(1)|p.R209I(1)|p.R209_R213delRNTFR(1)|p.D207_V216del10(1)|p.R209fs*5(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GAAAAGTGTTTCTGTCATCCAA	0.535		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"Mis, N, F"	tumor protein p53			"L, E, M, O"		"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"	"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"		84	Deletion - Frameshift(51)|Substitution - Missense(14)|Whole gene deletion(8)|Deletion - In frame(5)|Unknown(5)|Insertion - Frameshift(1)	p.R209fs*6(38)|p.0?(8)|p.R209K(7)|p.?(5)|p.R209T(3)|p.R77fs*6(2)|p.R209fs*35(2)|p.D207fs*6(2)|p.R209fs*38(2)|p.R116fs*6(2)|p.R77K(1)|p.R116K(1)|p.E204_N210delEYLDDRN(1)|p.R209fs*36(1)|p.D207_R213delDDRNTFR(1)|p.D208_V216delDRNTFRHSV(1)|p.D208fs*1(1)|p.N210fs*7(1)|p.R209S(1)|p.R209I(1)|p.R209_R213delRNTFR(1)|p.D207_V216del10(1)|p.R209fs*5(1)	biliary_tract(11)|breast(9)|upper_aerodigestive_tract(8)|oesophagus(7)|large_intestine(6)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(5)|prostate(5)|lung(4)|bone(4)|stomach(3)|soft_tissue(3)|ovary(3)|pancreas(3)|salivary_gland(2)|skin(2)|cervix(1)|urinary_tract(1)|liver(1)|thyroid(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185	GRCh37	CD962734	TP53	D		c.(625-627)afs	Other conserved DNA damage response genes	tumor protein p53																																				SO:0001589	frameshift_variant	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578222_7578223delTC	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"Li-Fraumeni syndrome"	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.626_627delGA	17.37:g.7578222_7578223delTC	ENSP00000269305:p.Arg209fs	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_ENST00000574684.1_Intron|TP53_ENST00000269305.4_Frame_Shift_Del_p.R209fs|TP53_ENST00000359597.4_Frame_Shift_Del_p.R209fs|TP53_ENST00000413465.2_Frame_Shift_Del_p.R209fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.R209fs|TP53_ENST00000455263.2_Frame_Shift_Del_p.R209fs	p.R209fs	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	6	758_759	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	209		R -> I (in sporadic cancers; somatic mutation).|R -> K (in sporadic cancers; somatic mutation).|R -> S (in a sporadic cancer; somatic mutation).|R -> T (in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Frame_Shift_Del	DEL	ENST00000269305.4	37	c.626_627delGA	CCDS11118.1																																																																																				0.535	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		40	42						40	42	---	---	---	---	-	7578223	TC	-	7578222	7	5	214	1	0	1	0	1	0	0	0	0	16378	1780	62	0	667	0	TP53	17	7578222	Frame_Shift_Del	DEL	TC	TCGA-HC-7742-01A-11D-2114-08	237943	7578222	73616988	38	9860											
COASY	80347	broad.mit.edu	37	chr17	40717505	40717505	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acaggaaagcgtgtgtgtgtGattgatgccgctgtgttgct	7	13	15	6	2	0	2	0	2	0	0	0	3	0	3	1	1	3	3	1	1	1	2			TCGA-HC-7742-01A-11D-2114-08	TCGA-HC-7742-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b134ed52-c6fa-45eb-a4af-1d84cbf013d8	c8565d71-27c7-400a-bd9b-97fd79a7e8e7	g.chr17:40717505G>T	ENST00000393818.2	+	7	1860	c.1404G>T	c.(1402-1404)gtG>gtT	p.V468V	MLX_ENST00000435881.2_5'Flank|COASY_ENST00000420359.1_Silent_p.V468V|COASY_ENST00000590958.1_Silent_p.V497V|MLX_ENST00000346833.4_5'Flank|COASY_ENST00000421097.2_Silent_p.V468V|COASY_ENST00000449624.1_Silent_p.V173V|MLX_ENST00000246912.4_5'Flank	NM_025233.6	NP_079509.5	Q13057	COASY_HUMAN	CoA synthase	468	DPCK.				cell death (GO:0008219)|coenzyme A biosynthetic process (GO:0015937)|coenzyme biosynthetic process (GO:0009108)|pantothenate metabolic process (GO:0015939)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrial outer membrane (GO:0005741)|nucleus (GO:0005634)	ATP binding (GO:0005524)|dephospho-CoA kinase activity (GO:0004140)|pantetheine-phosphate adenylyltransferase activity (GO:0004595)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)	21		all_cancers(22;1.06e-05)|Breast(137;0.000153)|all_epithelial(22;0.000344)		BRCA - Breast invasive adenocarcinoma(366;0.13)		GTGTGTGTGTGATTGATGCCG	0.612																																						ENST00000393818.2																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)	21						c.(1402-1404)gtG>gtT		CoA synthase							151	123	133					17																	40717505		2203	4300	6503	SO:0001819	synonymous_variant	80347				coenzyme A biosynthetic process|pantothenate metabolic process	mitochondrial outer membrane	ATP binding|dephospho-CoA kinase activity|pantetheine-phosphate adenylyltransferase activity	g.chr17:40717505G>T	AF453478	CCDS11429.1, CCDS45685.1	17q12-q21	2010-04-30	2010-04-30			ENSG00000068120	2.7.7.3		29932	protein-coding gene	gene with protein product		609855	"Coenzyme A synthase"			11923312, 11980892	Standard	NM_025233		Approved	DPCK, NBP, CoASY, PPAT	uc010cyj.4	Q13057		ENST00000393818.2:c.1404G>T	17.37:g.40717505G>T						COASY_ENST00000421097.2_Silent_p.V468V|COASY_ENST00000420359.1_Silent_p.V468V|COASY_ENST00000590958.1_Silent_p.V497V|COASY_ENST00000449624.1_Silent_p.V173V	p.V468V	NM_025233.6	NP_079509.5	Q13057	COASY_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.13)	7	1860	+		all_cancers(22;1.06e-05)|Breast(137;0.000153)|all_epithelial(22;0.000344)	468			DPCK.		B2RA78|B4DLU0|Q6GS23|Q8NBM7|Q8NEW1|Q8WXD4|Q9NRM3	Silent	SNP	ENST00000393818.2	37	c.1404G>T	CCDS11429.1																																																																																				0.612	COASY-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450409.1	NM_025233		17	49	1	0	1.33834e-09	1	1.43567e-09	17	49					T	40717505	G	T	40717505	2	4	214	1	0	0	0	0	0	0	0	1	3652	1277	45	5		5	COASY	17	40717505	Silent	SNP	G	TCGA-HC-7742-01A-11D-2114-08	33139283	40717505	40477705	39	9861											
BAHCC1	57597	broad.mit.edu	37	chr17	79428907	79428909	+	In_Frame_Del	DEL	CAG	CAG	-																															accggtgcgggctcaggcccCagcagcagcagcaaatccaa																										TCGA-HC-7742-01A-11D-2114-08	TCGA-HC-7742-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b134ed52-c6fa-45eb-a4af-1d84cbf013d8	c8565d71-27c7-400a-bd9b-97fd79a7e8e7	g.chr17:79428907_79428909delCAG	ENST00000307745.7	+	30	7218_7220	c.7218_7220delCAG	c.(7216-7221)cccagc>ccc	p.S2410del	RP11-1055B8.8_ENST00000572590.1_RNA																							GCTCAGGCCCCAGCAGCAGCAGC	0.69																																						ENST00000307745.7																			0											c.(7216-7221)ccc>cc						0,38,3970		0,0,0,3,32,1969						3	0.2			9	13,70,7915		0,0,13,6,58,3922	no	codingComplex	BAHCC1	NM_001080519.2		0,0,13,9,90,5891	A1A1,A1A2,A1R,A2A2,A2R,RR		1.0378,0.9481,1.0078				13,108,11885				SO:0001651	inframe_deletion	0							g.chr17:79428907_79428909delCAG																												ENST00000307745.7:c.7218_7220delCAG	17.37:g.79428916_79428918delCAG	ENSP00000303486:p.Ser2410del					RP11-1055B8.8_ENST00000572590.1_RNA	p.PS2406del							30	7218_7220	+									In_Frame_Del	DEL	ENST00000307745.7	37	c.7218_7220delCAG																																																																																					0.69	RP11-1055B8.7-201	KNOWN	basic|appris_principal	protein_coding	protein_coding				2	4						2	4	---	---	---	---	-	79428909	CAG	-	79428907	7	5	214	1	0	1	0	1	0	0	0	0	1296	581	21	0	7151	0	BAHCC1	17	79428907	In_Frame_Del	DEL	CAG	TCGA-HC-7742-01A-11D-2114-08	38711402	79428907	1766303	40	9862											
MRPL54	116541	broad.mit.edu	37	chr19	3762707	3762707	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgcaatacgtcatggcgacCaaacgccttttcggggctac	9	8	10	14	5	1	0	1	0	0	0	2	1	1	0	3	3	3	2	3	3	4	4			TCGA-HC-7742-01A-11D-2114-08	TCGA-HC-7742-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b134ed52-c6fa-45eb-a4af-1d84cbf013d8	c8565d71-27c7-400a-bd9b-97fd79a7e8e7	g.chr19:3762707C>G	ENST00000330133.4	+	1	46	c.9C>G	c.(7-9)acC>acG	p.T3T	APBA3_ENST00000316757.3_5'Flank	NM_172251.2	NP_758455.1	Q6P161	RM54_HUMAN	mitochondrial ribosomal protein L54	3						mitochondrion (GO:0005739)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(1)|kidney(1)|lung(1)|ovary(1)	5		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00467)|STAD - Stomach adenocarcinoma(1328;0.18)		TCATGGCGACCAAACGCCTTT	0.632																																						ENST00000330133.4																			0				breast(1)|endometrium(1)|kidney(1)|lung(1)|ovary(1)	5						c.(7-9)acC>acG		mitochondrial ribosomal protein L54							64	73	70					19																	3762707		2203	4300	6503	SO:0001819	synonymous_variant	116541					mitochondrion|ribosome		g.chr19:3762707C>G		CCDS12111.1	19p13.3	2012-11-14			ENSG00000183617	ENSG00000183617		"Mitochondrial ribosomal proteins / large subunits"	16685	protein-coding gene	gene with protein product		611858				11551941	Standard	NM_172251		Approved		uc002lyq.4	Q6P161	OTTHUMG00000180873	ENST00000330133.4:c.9C>G	19.37:g.3762707C>G							p.T3T	NM_172251.2	NP_758455.1	Q6P161	RM54_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00467)|STAD - Stomach adenocarcinoma(1328;0.18)	1	46	+		Hepatocellular(1079;0.137)	3						Silent	SNP	ENST00000330133.4	37	c.9C>G	CCDS12111.1																																																																																				0.632	MRPL54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453443.1	NM_172251		37	105	0	0	0	1	0	37	105					G	3762707	C	G	3762707	2	3	214	1	0	0	0	0	0	0	0	1	9818	581	21	5		5	MRPL54	19	3762707	Silent	SNP	C	TCGA-HC-7742-01A-11D-2114-08		3762707	55366276	41	9863											
WDR83	84292	broad.mit.edu	37	chr19	12780860	12780860	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggaacccgcttcgggggaCgctgctgcggacgtacagcg	6	6	17	12	6	0	0	0	0	0	0	1	3	0	3	1	4	5	4	1	4	2	2			TCGA-HC-7742-01A-11D-2114-08	TCGA-HC-7742-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b134ed52-c6fa-45eb-a4af-1d84cbf013d8	c8565d71-27c7-400a-bd9b-97fd79a7e8e7	g.chr19:12780860C>A	ENST00000418543.3	+	4	522	c.173C>A	c.(172-174)aCg>aAg	p.T58K	WDR83_ENST00000242796.4_Missense_Mutation_p.T58K|WDR83OS_ENST00000600694.1_5'Flank|WDR83OS_ENST00000222190.5_5'Flank|CTD-2192J16.24_ENST00000597961.1_5'Flank|WDR83OS_ENST00000596731.1_5'UTR	NM_001099737.2	NP_001093207.1	Q9BRX9	WDR83_HUMAN	WD repeat domain 83	58					mRNA splicing, via spliceosome (GO:0000398)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|spliceosomal complex (GO:0005681)				breast(2)|large_intestine(1)|lung(1)	4						CTTCGGGGGACGCTGCTGCGG	0.677																																						ENST00000418543.3																			0				breast(2)|large_intestine(1)|lung(1)	4						c.(172-174)aCg>aAg		WD repeat domain 83							45	49	47					19																	12780860		2203	4300	6503	SO:0001583	missense	84292				nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|cytoplasm		g.chr19:12780860C>A	AK074525	CCDS12275.1	19p13.13	2013-01-09			ENSG00000123154	ENSG00000123154		"WD repeat domain containing"	32672	protein-coding gene	gene with protein product	"MAPK organizer 1"					15118098, 16407229	Standard	NM_032332		Approved	MORG1	uc010dyw.3	Q9BRX9	OTTHUMG00000169356	ENST00000418543.3:c.173C>A	19.37:g.12780860C>A	ENSP00000402653:p.Thr58Lys					WDR83OS_ENST00000596731.1_5'UTR|WDR83_ENST00000242796.4_Missense_Mutation_p.T58K	p.T58K	NM_001099737.2	NP_001093207.1	Q9BRX9	WDR83_HUMAN			4	522	+			58					B2RAF1|Q53FT6	Missense_Mutation	SNP	ENST00000418543.3	37	c.173C>A	CCDS12275.1	.	.	.	.	.	.	.	.	.	.	C	26.7	4.763506	0.89932	.	.	ENSG00000123154	ENST00000418543;ENST00000242796	T;T	0.58060	0.36;0.36	5.3	3.12	0.35913	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.090966	0.85682	D	0.000000	T	0.27524	0.0676	N	0.04063	-0.285	0.53688	D	0.999976	P	0.48503	0.911	P	0.45538	0.484	T	0.25467	-1.0131	10	0.02654	T	1	.	10.1688	0.42897	0.0:0.7864:0.1373:0.0762	.	58	Q9BRX9	WDR83_HUMAN	K	58	ENSP00000402653:T58K;ENSP00000242796:T58K	ENSP00000242796:T58K	T	+	2	0	WDR83	12641860	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	4.231000	0.58639	0.700000	0.31782	-0.140000	0.14226	ACG		0.677	WDR83-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403648.1	NM_032332		3	75	1	0	1	1	1	3	75					A	12780860	C	A	12780860	3	1	214	1	0	0	0	0	1	0	0	0	17329	536	19	5	179	5	WDR83	19	12780860	Missense_Mutation	SNP	C	TCGA-HC-7742-01A-11D-2114-08	9018153	12780860	46348123	42	9864											
KCNN1	3780	broad.mit.edu	37	chr19	18092575	18092575	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgccatgacctgcgagcgcGtgttcctcatctcgctagag	6	10	11	14	5	2	2	1	1	1	1	5	3	3	2	3	0	2	2	3	0	1	2			TCGA-HC-7742-01A-11D-2114-08	TCGA-HC-7742-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b134ed52-c6fa-45eb-a4af-1d84cbf013d8	c8565d71-27c7-400a-bd9b-97fd79a7e8e7	g.chr19:18092575G>A	ENST00000222249.9	+	5	875	c.556G>A	c.(556-558)Gtg>Atg	p.V186M		NM_002248.3	NP_002239.2	Q92952	KCNN1_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 1	186					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	calcium-activated potassium channel activity (GO:0015269)|calmodulin binding (GO:0005516)|small conductance calcium-activated potassium channel activity (GO:0016286)			endometrium(1)|kidney(1)|lung(5)|urinary_tract(1)	8					Miconazole(DB01110)|Procaine(DB00721)	CTGCGAGCGCGTGTTCCTCAT	0.662																																						ENST00000601725.1																			0																				32	32	32					19																	18092575		2162	4238	6400	SO:0001583	missense	0							g.chr19:18092575G>A	U69883	CCDS67611.1	19p13.1	2012-07-05				ENSG00000105642		"Potassium channels", "Voltage-gated ion channels / Potassium channels, calcium-activated"	6290	protein-coding gene	gene with protein product		602982				8781233, 10516439, 16382103	Standard	NM_002248		Approved	KCa2.1, hSK1	uc002nht.3	Q92952		ENST00000222249.9:c.556G>A	19.37:g.18092575G>A	ENSP00000476519:p.Val186Met													0	191	+								Q5KR10|Q6DJU4	RNA	SNP	ENST00000222249.9	37			.	.	.	.	.	.	.	.	.	.	G	15.63	2.890923	0.52014	.	.	ENSG00000105642	ENST00000222249;ENST00000536713	.	.	.	5.04	1.47	0.22746	Potassium channel, calcium-activated, SK, conserved region (1);	0.065165	0.56097	D	0.000022	T	0.46483	0.1395	L	0.52759	1.655	0.33643	D	0.607461	P	0.47191	0.891	P	0.51487	0.671	T	0.57329	-0.7830	9	0.62326	D	0.03	-25.8078	5.3025	0.15785	0.5298:0.0:0.4702:0.0	.	186	Q92952	KCNN1_HUMAN	M	203;186	.	ENSP00000222249:V203M	V	+	1	0	KCNN1	17953575	0.999000	0.42202	0.010000	0.14722	0.529000	0.34654	3.651000	0.54431	0.533000	0.28675	0.561000	0.74099	GTG		0.662	KCNN1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000471896.2	NM_002248		11	44	0	0	0	1	0	11	44					A	18092575	G	A	18092575	3	1	214	1	0	0	0	0	1	0	0	0	8078	1145	40	1	566	1	KCNN1	19	18092575	Missense_Mutation	SNP	G	TCGA-HC-7742-01A-11D-2114-08	5311715	18092575	41036408	43	9865											
ZNF296	162979	broad.mit.edu	37	chr19	45579626	45579626	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gcgctgccggccttgcggcgGgacatgagtcgcgggccggg	3	5	20	13	7	0	1	0	1	0	0	1	2	0	2	3	5	2	1	3	5	0	1			TCGA-HC-7742-01A-11D-2114-08	TCGA-HC-7742-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b134ed52-c6fa-45eb-a4af-1d84cbf013d8	c8565d71-27c7-400a-bd9b-97fd79a7e8e7	g.chr19:45579626G>A	ENST00000303809.2	-	1	220	c.6C>T	c.(4-6)tcC>tcT	p.S2S	CTB-179K24.3_ENST00000586744.1_RNA|GEMIN7_ENST00000391951.2_5'Flank|GEMIN7_ENST00000591607.1_5'Flank|GEMIN7_ENST00000591747.1_5'Flank|GEMIN7_ENST00000270257.4_5'Flank	NM_145288.1	NP_660331.1	Q8WUU4	ZN296_HUMAN	zinc finger protein 296	2					regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|lung(3)|prostate(1)|urinary_tract(2)	7						CCTTGCGGCGGGACATGAGTC	0.751																																						ENST00000303809.2																			0				breast(1)|lung(3)|prostate(1)|urinary_tract(2)	7						c.(4-6)tcC>tcT		zinc finger protein 296							9	11	11					19																	45579626		1866	3598	5464	SO:0001819	synonymous_variant	162979				regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:45579626G>A	BC019352	CCDS12653.1	19q13.32	2013-01-08	2008-06-24	2008-06-24		ENSG00000170684		"Zinc fingers, C2H2-type"	15981	protein-coding gene	gene with protein product		613226	"zinc finger protein 342"	ZNF342		11063263, 14633674	Standard	NM_145288		Approved		uc002pao.3	Q8WUU4		ENST00000303809.2:c.6C>T	19.37:g.45579626G>A							p.S2S	NM_145288.1	NP_660331.1	Q8WUU4	ZN296_HUMAN			1	220	-			2						Silent	SNP	ENST00000303809.2	37	c.6C>T	CCDS12653.1																																																																																				0.751	ZNF296-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457529.1	NM_145288		3	41	0	0	0	1	0	3	41					A	45579626	G	A	45579626	2	1	214	1	0	0	0	0	0	0	0	1	17825	1219	43	3		3	ZNF296	19	45579626	Silent	SNP	G	TCGA-HC-7742-01A-11D-2114-08	27487051	45579626	13549357	44	9866											
KLK6	5653	broad.mit.edu	37	chr19	51462556	51462556	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggtggtctccacataccagcGgacccccagaatcaccctgc	9	6	9	17	1	2	1	1	0	1	1	3	2	2	2	5	3	3	0	5	3	2	1			TCGA-HC-7742-01A-11D-2114-08	TCGA-HC-7742-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b134ed52-c6fa-45eb-a4af-1d84cbf013d8	c8565d71-27c7-400a-bd9b-97fd79a7e8e7	g.chr19:51462556G>A	ENST00000376851.3	-	6	1038	c.599C>T	c.(598-600)cCg>cTg	p.P200L	CTB-147C22.8_ENST00000594939.1_RNA|KLK6_ENST00000310157.2_Missense_Mutation_p.P200L|KLK6_ENST00000594641.1_Missense_Mutation_p.P200L|KLK6_ENST00000456750.2_Missense_Mutation_p.P93L|KLK6_ENST00000391808.1_Missense_Mutation_p.P93L|CTB-147C22.8_ENST00000601506.1_RNA|KLK6_ENST00000376853.4_Missense_Mutation_p.R72C	NM_001012964.1	NP_001012982.1	Q92876	KLK6_HUMAN	kallikrein-related peptidase 6	200	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				amyloid precursor protein metabolic process (GO:0042982)|central nervous system development (GO:0007417)|collagen catabolic process (GO:0030574)|hormone metabolic process (GO:0042445)|myelination (GO:0042552)|neuron death (GO:0070997)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)|protein autoprocessing (GO:0016540)|regulation of cell differentiation (GO:0045595)|regulation of neuron projection development (GO:0010975)|response to wounding (GO:0009611)|tissue regeneration (GO:0042246)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|intercellular bridge (GO:0045171)|microtubule cytoskeleton (GO:0015630)|mitochondrion (GO:0005739)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	serine-type endopeptidase activity (GO:0004252)	p.P200L(1)		endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|skin(4)	13		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00372)|GBM - Glioblastoma multiforme(134;0.00871)		ACATACCAGCGGACCCCCAGA	0.527																																						ENST00000376851.3																			1	Substitution - Missense(1)	p.P200L(1)	kidney(1)	endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|skin(4)	13						c.(598-600)cCg>cTg		kallikrein-related peptidase 6							130	120	124					19																	51462556		2203	4300	6503	SO:0001583	missense	5653				amyloid precursor protein metabolic process|central nervous system development|collagen catabolic process|hormone metabolic process|myelination|positive regulation of G-protein coupled receptor protein signaling pathway|protein autoprocessing|proteolysis|regulation of cell differentiation|tissue regeneration	endoplasmic reticulum|extracellular region|microsome|mitochondrion|nucleolus	protein binding|serine-type endopeptidase activity	g.chr19:51462556G>A	U62801	CCDS12811.1, CCDS42599.1	19q13.3	2011-09-07	2006-10-27			ENSG00000167755		"Kallikreins", "Serine peptidases / Serine peptidases"	6367	protein-coding gene	gene with protein product		602652	"protease, serine, 18", "kallikrein 6 (neurosin, zyme)"	PRSS9, PRSS18		9003450, 16800724, 16800723	Standard	NM_002774		Approved	Bssp, Klk7, neurosin	uc002pui.3	Q92876		ENST00000376851.3:c.599C>T	19.37:g.51462556G>A	ENSP00000366047:p.Pro200Leu					KLK6_ENST00000456750.2_Missense_Mutation_p.P93L|CTB-147C22.8_ENST00000601506.1_RNA|KLK6_ENST00000310157.2_Missense_Mutation_p.P200L|KLK6_ENST00000391808.1_Missense_Mutation_p.P93L|KLK6_ENST00000594641.1_Missense_Mutation_p.P200L|KLK6_ENST00000376853.4_Missense_Mutation_p.R72C	p.P200L	NM_001012964.1	NP_001012982.1	Q92876	KLK6_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00372)|GBM - Glioblastoma multiforme(134;0.00871)	6	1038	-		all_neural(266;0.026)	200			Peptidase S1.		A6NJA1|A8MW09|Q6H301	Missense_Mutation	SNP	ENST00000376851.3	37	c.599C>T	CCDS12811.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	N|N	14.33|14.33	2.503903|2.503903	0.44558|0.44558	.|.	.|.	ENSG00000167755|ENSG00000167755	ENST00000310157;ENST00000376851;ENST00000391808;ENST00000456750|ENST00000376853	D;D;D;D|D	0.98684|0.83506	-5.07;-5.07;-5.07;-5.07|-1.73	3.89|3.89	3.89|3.89	0.44902|0.44902	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);|.	.|.	.|.	.|.	.|.	D|D	0.91334|0.91334	0.7267|0.7267	H|H	0.99498|0.99498	4.595|4.595	0.80722|0.80722	D|D	1|1	D;D|P	0.89917|0.50710	1.0;1.0|0.938	D;D|P	0.97110|0.45099	0.996;1.0|0.469	D|D	0.94608|0.94608	0.7802|0.7802	9|9	0.87932|0.87932	D|D	0|0	.|.	13.7773|13.7773	0.63062|0.63062	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	200;93|72	Q92876;Q92876-2|E7ETY0	KLK6_HUMAN;.|.	L|C	200;200;93;93|72	ENSP00000309148:P200L;ENSP00000366047:P200L;ENSP00000375684:P93L;ENSP00000409241:P93L|ENSP00000366049:R72C	ENSP00000309148:P200L|ENSP00000366049:R72C	P|R	-|-	2|1	0|0	KLK6|KLK6	56154368|56154368	1.000000|1.000000	0.71417|0.71417	0.341000|0.341000	0.25589|0.25589	0.018000|0.018000	0.09664|0.09664	8.539000|8.539000	0.90637|0.90637	2.156000|2.156000	0.67533|0.67533	0.645000|0.645000	0.84053|0.84053	CCG|CGC		0.527	KLK6-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465060.1	NM_002774		18	37	0	0	0	1	0	18	37					A	51462556	G	A	51462556	3	1	214	1	0	0	0	0	1	0	0	0	8408	1116	39	2	139	2	KLK6	19	51462556	Missense_Mutation	SNP	G	TCGA-HC-7742-01A-11D-2114-08	5882930	51462556	7666427	45	9867											
SBF1	6305	broad.mit.edu	37	chr22	50893710	50893710	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtgaagccgctgctctgcccGgccagggtgtgagctccacg	5	7	15	14	3	1	2	0	2	1	0	2	2	2	2	4	2	4	3	4	2	1	0	rs377500587		TCGA-HC-7742-01A-11D-2114-08	TCGA-HC-7742-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b134ed52-c6fa-45eb-a4af-1d84cbf013d8	c8565d71-27c7-400a-bd9b-97fd79a7e8e7	g.chr22:50893710G>A	ENST00000390679.3	-	32	4603	c.4419C>T	c.(4417-4419)gcC>gcT	p.A1473A	SBF1_ENST00000348911.6_Silent_p.A1474A|SBF1_ENST00000380817.3_Silent_p.A1499A|SBF1_ENST00000476293.1_5'Flank			O95248	MTMR5_HUMAN	SET binding factor 1	1473	Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}.				cell death (GO:0008219)|positive regulation of Rab GTPase activity (GO:0032851)|protein dephosphorylation (GO:0006470)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	protein tyrosine/serine/threonine phosphatase activity (GO:0008138)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(8)|large_intestine(3)|lung(18)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	43		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)		TGCTCTGCCCGGCCAGGGTGT	0.667																																						ENST00000380817.2																			0				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(8)|large_intestine(3)|lung(18)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	43						c.(4495-4497)gcC>gcT		SET binding factor 1		G		1,4203		0,1,2101	28	37	34		4497	-7.7	0.8	22		34	0,8448		0,0,4224	no	coding-synonymous	SBF1	NM_002972.2		0,1,6325	AA,AG,GG		0.0,0.0238,0.0079		1499/1894	50893710	1,12651	2102	4224	6326	SO:0001819	synonymous_variant	6305				protein dephosphorylation	integral to membrane|nucleus	protein tyrosine/serine/threonine phosphatase activity	g.chr22:50893710G>A	U93181	CCDS14091.1, CCDS14091.2	22q13.33	2013-01-10			ENSG00000100241	ENSG00000100241		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins", "DENN/MADD domain containing", "Pleckstrin homology (PH) domain containing"	10542	protein-coding gene	gene with protein product	"myotubularin related 5", "DENN/MADD domain containing 7A"	603560				9537414, 9736772	Standard	NM_002972		Approved	MTMR5, DENND7A	uc003blh.3	O95248	OTTHUMG00000150204	ENST00000390679.3:c.4419C>T	22.37:g.50893710G>A						SBF1_ENST00000348911.6_Silent_p.A1474A|SBF1_ENST00000390679.3_Silent_p.A1473A	p.A1499A	NM_002972.2	NP_002963.2	O95248	MTMR5_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)	33	4680	-		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)	1473			Myotubularin phosphatase.		A6PVG9|O60228|Q5JXD8|Q5PPM2|Q96GR9|Q9UGB8	Silent	SNP	ENST00000390679.3	37	c.4497C>T		.	.	.	.	.	.	.	.	.	.	G	10.02	1.236524	0.22711	2.38E-4	0.0	ENSG00000100241	ENST00000418590	.	.	.	3.84	-7.68	0.01268	.	.	.	.	.	T	0.34250	0.0891	.	.	.	0.53688	D	0.999979	.	.	.	.	.	.	T	0.37526	-0.9702	4	.	.	.	.	1.5654	0.02603	0.4566:0.1746:0.194:0.1749	.	.	.	.	W	33	.	.	R	-	1	2	SBF1	49240576	0.000000	0.05858	0.813000	0.32504	0.952000	0.60782	-1.245000	0.02899	-1.921000	0.01068	-0.339000	0.08088	CGG		0.667	SBF1-201	KNOWN	basic	protein_coding	protein_coding				4	32	0	0	0	1	0	4	32					A	50893710	G	A	50893710	2	1	214	1	0	0	0	0	0	0	0	1	13858	1103	39	2		2	SBF1	22	50893710	Silent	SNP	G	TCGA-HC-7742-01A-11D-2114-08		50893710	410856	46	9868											
HMGB3	3149	broad.mit.edu	37	chrX	150156360	150156360	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaagaggaggaggaagaagaGgaggaggaggaggaggagga	17	0	24	0	0	0	3	0	0	0	3	0	14	0	13	0	10	0	0	0	10	3	0			TCGA-HC-7742-01A-11D-2114-08	TCGA-HC-7742-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b134ed52-c6fa-45eb-a4af-1d84cbf013d8	6fd7283b-c522-4e98-bfff-740d5d01154b	g.chrX:150156360G>A	ENST00000325307.7	+	5	672	c.576G>A	c.(574-576)gaG>gaA	p.E192E	HMGB3_ENST00000448905.2_Silent_p.E192E	NM_005342.2	NP_005333.2	O15347	HMGB3_HUMAN	high mobility group box 3	192	Asp/Glu-rich (acidic).				DNA recombination (GO:0006310)|multicellular organismal development (GO:0007275)	chromosome (GO:0005694)|nucleus (GO:0005634)	DNA binding, bending (GO:0008301)|double-stranded DNA binding (GO:0003690)|poly(A) RNA binding (GO:0044822)	p.E192E(1)		endometrium(3)|large_intestine(2)|lung(2)|skin(1)	8	Acute lymphoblastic leukemia(192;6.56e-05)					aggaagaagaggaggaggagg	0.443																																						ENST00000325307.7																			1	Substitution - coding silent(1)	p.E192E(1)	large_intestine(1)	endometrium(3)|large_intestine(2)|lung(2)|skin(1)	8						c.(574-576)gaG>gaA		high mobility group box 3							50	48	49					X																	150156360		2202	4299	6501	SO:0001819	synonymous_variant	3149				DNA recombination|multicellular organismal development	chromosome|nucleus	DNA bending activity|double-stranded DNA binding	g.chrX:150156360G>A	AF274572	CCDS35428.1	Xq28	2011-07-01	2011-04-05	2002-08-16	ENSG00000029993	ENSG00000029993		"High-mobility group / Canonical"	5004	protein-coding gene	gene with protein product	"non-histone chromosomal protein"	300193	"high-mobility group (nonhistone chromosomal) protein 4", "high-mobility group box 3"	HMG4		9598312	Standard	XM_005274665		Approved	HMG2A, MGC90319	uc004fep.3	O15347	OTTHUMG00000024162	ENST00000325307.7:c.576G>A	X.37:g.150156360G>A						HMGB3_ENST00000448905.2_Silent_p.E192E	p.E192E	NM_005342.2	NP_005333.2	O15347	HMGB3_HUMAN			5	672	+	Acute lymphoblastic leukemia(192;6.56e-05)		192			Asp/Glu-rich (acidic).		O95556|Q6NS40	Silent	SNP	ENST00000325307.7	37	c.576G>A	CCDS35428.1																																																																																				0.443	HMGB3-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060867.1	NM_005342		3	24	0	0	0	1	0	3	24					A	150156360	G	A	150156360	2	1	214	1	0	0	0	0	0	0	0	1	7227	991	35	3		3	HMGB3	23	150156360	Silent	SNP	G	TCGA-HC-7742-01A-11D-2114-08		150156360	5114200	47	9869											
IRAK1	3654	broad.mit.edu	37	chrX	153278063	153278063	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcttctggaccatcttctgtCgggcagggttgatgataatc	7	13	12	9	1	3	2	0	2	3	0	5	3	3	3	1	3	0	3	1	3	1	4			TCGA-HC-7742-01A-11D-2114-08	TCGA-HC-7742-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b134ed52-c6fa-45eb-a4af-1d84cbf013d8	c8565d71-27c7-400a-bd9b-97fd79a7e8e7	g.chrX:153278063C>T	ENST00000369980.3	-	13	2164	c.1997G>A	c.(1996-1998)cGa>cAa	p.R666Q	IRAK1_ENST00000393682.1_Missense_Mutation_p.R647Q|IRAK1_ENST00000393687.2_Missense_Mutation_p.R636Q|IRAK1_ENST00000369974.2_Missense_Mutation_p.R587Q|IRAK1_ENST00000429936.2_Missense_Mutation_p.R662Q|IRAK1_ENST00000477274.1_Intron	NM_001025242.1|NM_001569.3	NP_001020413.1|NP_001560.2	P51617	IRAK1_HUMAN	interleukin-1 receptor-associated kinase 1	666					activation of MAPK activity (GO:0000187)|activation of NF-kappaB-inducing kinase activity (GO:0007250)|cellular response to hypoxia (GO:0071456)|innate immune response (GO:0045087)|interleukin-1-mediated signaling pathway (GO:0070498)|JNK cascade (GO:0007254)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autophosphorylation (GO:0046777)|protein oligomerization (GO:0051259)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cytokine-mediated signaling pathway (GO:0001959)|response to interleukin-1 (GO:0070555)|response to lipopolysaccharide (GO:0032496)|response to peptidoglycan (GO:0032494)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome membrane (GO:0010008)|interleukin-1 receptor complex (GO:0045323)|lipid particle (GO:0005811)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|NF-kappaB-inducing kinase activity (GO:0004704)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(15)|ovary(2)	25	all_cancers(53;3.7e-16)|all_epithelial(53;3.44e-10)|all_lung(58;2.06e-07)|Lung NSC(58;2.72e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CATCTTCTGTCGGGCAGGGTT	0.632																																						ENST00000369980.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(15)|ovary(2)	25						c.(1996-1998)cGa>cAa		interleukin-1 receptor-associated kinase 1							113	85	94					X																	153278063		2203	4300	6503	SO:0001583	missense	3654				activation of MAPK activity|activation of NF-kappaB-inducing kinase activity|anti-apoptosis|innate immune response|interleukin-1-mediated signaling pathway|JNK cascade|lipopolysaccharide-mediated signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of NF-kappaB transcription factor activity|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription, DNA-dependent|protein autophosphorylation|protein oligomerization|regulation of cytokine-mediated signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transmembrane receptor protein serine/threonine kinase signaling pathway	cytosol|endosome membrane|interleukin-1 receptor complex	ATP binding|NF-kappaB-inducing kinase activity|protein binding|protein heterodimerization activity|protein homodimerization activity|ubiquitin-protein ligase activity	g.chrX:153278063C>T	L76191	CCDS14740.1, CCDS35443.1, CCDS35444.1	Xq28	2011-07-08			ENSG00000184216	ENSG00000184216			6112	protein-coding gene	gene with protein product		300283				9374458, 8599092	Standard	XM_005274668		Approved	IRAK, pelle	uc004fjs.1	P51617	OTTHUMG00000024228	ENST00000369980.3:c.1997G>A	X.37:g.153278063C>T	ENSP00000358997:p.Arg666Gln					IRAK1_ENST00000393682.1_Missense_Mutation_p.R647Q|IRAK1_ENST00000429936.2_Missense_Mutation_p.R662Q|IRAK1_ENST00000477274.1_Intron|IRAK1_ENST00000393687.2_Missense_Mutation_p.R636Q|IRAK1_ENST00000369974.2_Missense_Mutation_p.R587Q	p.R666Q	NM_001025242.1|NM_001569.3	NP_001020413.1|NP_001560.2	P51617	IRAK1_HUMAN			13	2164	-	all_cancers(53;3.7e-16)|all_epithelial(53;3.44e-10)|all_lung(58;2.06e-07)|Lung NSC(58;2.72e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		666					D3DWW3|D3DWW4|Q7Z5V4|Q96C06|Q96RL2	Missense_Mutation	SNP	ENST00000369980.3	37	c.1997G>A	CCDS14740.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	27.9|27.9	4.871528|4.871528	0.91587|0.91587	.|.	.|.	ENSG00000184216|ENSG00000184216	ENST00000455690;ENST00000437278|ENST00000369980;ENST00000369974;ENST00000393682;ENST00000393687;ENST00000429936	T|T;T;T;T;T	0.24538|0.27256	1.85|1.68;1.68;1.68;1.68;1.68	5.96|5.96	5.96|5.96	0.96718|0.96718	.|.	.|0.000000	.|0.43416	.|D	.|0.000570	T|T	0.41789|0.41789	0.1174|0.1174	L|L	0.34521|0.34521	1.04|1.04	0.21915|0.21915	N|N	0.999471|0.999471	.|D;D;D	.|0.89917	.|1.0;1.0;1.0	.|D;D;D	.|0.87578	.|0.984;0.996;0.998	T|T	0.30504|0.30504	-0.9976|-0.9976	6|10	.|0.66056	.|D	.|0.02	-12.194|-12.194	16.0863|16.0863	0.81056|0.81056	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|587;666;636	.|P51617-4;P51617;P51617-2	.|.;IRAK1_HUMAN;.	N|Q	116;230|666;587;647;636;662	ENSP00000411809:D116N|ENSP00000358997:R666Q;ENSP00000358991:R587Q;ENSP00000377287:R647Q;ENSP00000377291:R636Q;ENSP00000392662:R662Q	.|ENSP00000358991:R587Q	D|R	-|-	1|2	0|0	IRAK1|IRAK1	152931257|152931257	0.993000|0.993000	0.37304|0.37304	0.801000|0.801000	0.32222|0.32222	0.966000|0.966000	0.64601|0.64601	3.238000|3.238000	0.51352|0.51352	2.516000|2.516000	0.84829|0.84829	0.594000|0.594000	0.82650|0.82650	GAC|CGA		0.632	IRAK1-012	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061143.3			31	30	0	0	0	1	0	31	30					T	153278063	C	T	153278063	3	4	214	1	0	0	0	0	1	0	0	0	7821	884	31	2	149	2	IRAK1	23	153278063	Missense_Mutation	SNP	C	TCGA-HC-7742-01A-11D-2114-08	3121703	153278063	1992497	48	9870											
TTLL10	254173	broad.mit.edu	37	chr1	1117795	1117795	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taccgcctggacctcaaacaCgagagagaggcctttttcac	11	8	9	13	2	2	2	2	0	0	2	2	5	2	3	4	2	2	0	4	2	2	3	rs139967804	byFrequency	TCGA-HC-7744-01A-11D-2114-08	TCGA-HC-7744-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0192d529-7340-45d8-a5f0-249cbb11ca19	12e7e0e3-0619-4659-ac66-f999415ad396	g.chr1:1117795C>G	ENST00000379290.1	+	10	1058	c.885C>G	c.(883-885)caC>caG	p.H295Q	TTLL10-AS1_ENST00000379317.1_RNA|TTLL10_ENST00000379289.1_Missense_Mutation_p.H295Q|TTLL10_ENST00000379288.3_Missense_Mutation_p.H222Q			Q6ZVT0	TTL10_HUMAN	tubulin tyrosine ligase-like family, member 10	295	TTL. {ECO:0000255|PROSITE- ProRule:PRU00568}.				cellular protein modification process (GO:0006464)					haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(2)|skin(1)	7	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;4.75e-36)|OV - Ovarian serous cystadenocarcinoma(86;5.82e-22)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;4.22e-05)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		ACCTCAAACACGAGAGAGAGG	0.622																																						ENST00000379290.1																			0				haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(2)|skin(1)	7						c.(883-885)caC>caG		tubulin tyrosine ligase-like family, member 10			GLN/HIS,GLN/HIS	0,4406		0,0,2203	120	117	118		885,666	-6.3	0	1	dbSNP_134	118	3,8597	3.0+/-9.4	0,3,4297	no	missense,missense	TTLL10	NM_001130045.1,NM_153254.2	24,24	0,3,6500	GG,GC,CC		0.0349,0.0,0.0231	benign,benign	295/674,222/405	1117795	3,13003	2203	4300	6503	SO:0001583	missense	254173				protein modification process		ATP binding|tubulin-tyrosine ligase activity	g.chr1:1117795C>G	AK093438	CCDS8.1, CCDS44036.1	1p36.33	2014-01-28	2005-07-29	2005-07-29	ENSG00000162571	ENSG00000162571		"Tubulin tyrosine ligase-like family"	26693	protein-coding gene	gene with protein product			"tubulin tyrosine ligase-like family, member 5"	TTLL5		15890843	Standard	NM_153254		Approved	FLJ36119	uc001acy.2	Q6ZVT0	OTTHUMG00000000851	ENST00000379290.1:c.885C>G	1.37:g.1117795C>G	ENSP00000368592:p.His295Gln					TTLL10_ENST00000379289.1_Missense_Mutation_p.H295Q|TTLL10_ENST00000379288.3_Missense_Mutation_p.H222Q	p.H295Q			Q6ZVT0	TTL10_HUMAN		Epithelial(90;4.75e-36)|OV - Ovarian serous cystadenocarcinoma(86;5.82e-22)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;4.22e-05)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)	10	1058	+	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)	295			TTL.		B1AMF6|Q5T2W4|Q5T2W5|Q8N9X2	Missense_Mutation	SNP	ENST00000379290.1	37	c.885C>G	CCDS44036.1	.	.	.	.	.	.	.	.	.	.	C	0.124	-1.121815	0.01785	0.0	3.49E-4	ENSG00000162571	ENST00000379290;ENST00000379289;ENST00000379288	T;T;T	0.07567	3.18;3.18;3.18	3.28	-6.33	0.01988	.	2.595140	0.02357	N	0.076473	T	0.04272	0.0118	N	0.16656	0.425	0.09310	N	1	B;B	0.17268	0.017;0.021	B;B	0.10450	0.004;0.005	T	0.31998	-0.9923	10	0.40728	T	0.16	.	0.6593	0.00840	0.2862:0.3153:0.145:0.2535	.	222;295	Q6ZVT0-3;Q6ZVT0	.;TTL10_HUMAN	Q	295;295;222	ENSP00000368592:H295Q;ENSP00000368591:H295Q;ENSP00000368590:H222Q	ENSP00000368590:H222Q	H	+	3	2	TTLL10	1107658	0.000000	0.05858	0.033000	0.17914	0.002000	0.02628	-6.020000	0.00085	-1.352000	0.02194	-0.359000	0.07587	CAC		0.622	TTLL10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000002421.3	NM_153254		15	106	0	0	0	1	0	15	106					G	1117795	C	G	1117795	3	3	215	1	0	0	0	0	1	0	0	0	16720	535	19	5	911	5	TTLL10	1	1117795	Missense_Mutation	SNP	C	TCGA-HC-7744-01A-11D-2114-08		1117795	248132826	1	9871											
UBR4	23352	broad.mit.edu	37	chr1	19499502	19499502	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cctggacctttgagatcgcgGcatcaagggtgtagatggac	9	9	14	9	2	1	2	1	1	0	2	2	5	1	4	2	4	0	2	2	4	2	2			TCGA-HC-7744-01A-11D-2114-08	TCGA-HC-7744-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0192d529-7340-45d8-a5f0-249cbb11ca19	12e7e0e3-0619-4659-ac66-f999415ad396	g.chr1:19499502G>A	ENST00000375254.3	-	25	3404	c.3377C>T	c.(3376-3378)gCc>gTc	p.A1126V	UBR4_ENST00000375226.2_Missense_Mutation_p.A1126V|UBR4_ENST00000375217.2_Missense_Mutation_p.A1126V|UBR4_ENST00000375267.2_Missense_Mutation_p.A1126V	NM_020765.2	NP_065816.2	Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	1126					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		TGAGATCGCGGCATCAAGGGT	0.443																																						ENST00000375267.2																			0				breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171						c.(3376-3378)gCc>gTc		ubiquitin protein ligase E3 component n-recognin 4							86	78	81					1																	19499502		2203	4300	6503	SO:0001583	missense	23352				interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr1:19499502G>A	AF348492	CCDS189.1	1p36.13	2008-06-23	2007-06-19	2007-06-19	ENSG00000127481	ENSG00000127481		"Ubiquitin protein ligase E3 component n-recognins"	30313	protein-coding gene	gene with protein product		609890	"zinc finger, UBR1 type 1"	ZUBR1		14702039, 10718198, 16055722	Standard	XM_005245802		Approved	KIAA1307, KIAA0462, RBAF600	uc001bbi.3	Q5T4S7	OTTHUMG00000002498	ENST00000375254.3:c.3377C>T	1.37:g.19499502G>A	ENSP00000364403:p.Ala1126Val					UBR4_ENST00000375217.2_Missense_Mutation_p.A1126V|UBR4_ENST00000375226.2_Missense_Mutation_p.A1126V|UBR4_ENST00000375254.3_Missense_Mutation_p.A1126V	p.A1126V			Q5T4S7	UBR4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)	25	3380	-		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)	1126					A8MPT2|A8MQ33|A8MQB1|O60646|O75050|Q4QRK5|Q5T4S8|Q5T4S9|Q5TBN8|Q5TBP2|Q6DKH8|Q6P4A4|Q7L8P7|Q8IXJ4|Q8TDN5|Q8WV67|Q9HA46|Q9P2N9|Q9UG82	Missense_Mutation	SNP	ENST00000375254.3	37	c.3377C>T	CCDS189.1	.	.	.	.	.	.	.	.	.	.	G	28.7	4.943880	0.92593	.	.	ENSG00000127481	ENST00000375254;ENST00000375267;ENST00000375217;ENST00000375226;ENST00000419533	T;T;T;T	0.55413	0.52;0.52;0.52;0.52	5.75	5.75	0.90469	.	0.000000	0.85682	D	0.000000	T	0.65565	0.2703	L	0.38175	1.15	0.80722	D	1	D	0.63880	0.993	D	0.68192	0.956	T	0.66582	-0.5887	10	0.72032	D	0.01	.	19.5476	0.95305	0.0:0.0:1.0:0.0	.	1126	Q5T4S7	UBR4_HUMAN	V	1126;1126;1126;1126;342	ENSP00000364403:A1126V;ENSP00000364416:A1126V;ENSP00000364365:A1126V;ENSP00000364374:A1126V	ENSP00000364365:A1126V	A	-	2	0	UBR4	19372089	1.000000	0.71417	0.807000	0.32361	0.964000	0.63967	9.476000	0.97823	2.719000	0.93026	0.655000	0.94253	GCC		0.443	UBR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007085.1	NM_020765		3	45	0	0	0	1	0	3	45					A	19499502	G	A	19499502	3	1	215	1	0	0	0	0	1	0	0	0	16901	1203	42	3	12502	3	UBR4	1	19499502	Missense_Mutation	SNP	G	TCGA-HC-7744-01A-11D-2114-08	18381707	19499502	229751119	2	9872											
TRIT1	54802	broad.mit.edu	37	chr1	40318533	40318533	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcggtcaatcactttctcagTgcccatctcctggggctatt	6	14	8	13	1	4	0	3	0	2	0	7	0	4	0	2	3	1	1	2	3	2	3			TCGA-HC-7744-01A-11D-2114-08	TCGA-HC-7744-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0192d529-7340-45d8-a5f0-249cbb11ca19	12e7e0e3-0619-4659-ac66-f999415ad396	g.chr1:40318533T>A	ENST00000316891.5	-	4	444	c.430A>T	c.(430-432)Act>Tct	p.T144S	TRIT1_ENST00000372818.1_Missense_Mutation_p.T144S|TRIT1_ENST00000537440.1_Intron|TRIT1_ENST00000491865.1_Intron|TRIT1_ENST00000541099.1_Intron|TRIT1_ENST00000544981.1_Intron|TRIT1_ENST00000537223.1_Intron|TRIT1_ENST00000441669.2_Missense_Mutation_p.T64S|TRIT1_ENST00000545233.1_Intron	NM_017646.4	NP_060116.2	Q9H3H1	MOD5_HUMAN	tRNA isopentenyltransferase 1	144					tRNA processing (GO:0008033)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|tRNA dimethylallyltransferase activity (GO:0052381)			breast(1)|large_intestine(5)|liver(1)|lung(3)|ovary(2)|pancreas(1)|stomach(1)|urinary_tract(1)	15	all_cancers(7;4.55e-14)|all_lung(5;1.23e-16)|all_epithelial(6;2.17e-16)|Lung NSC(20;7.03e-07)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;3.29e-18)|Epithelial(16;3.07e-17)|all cancers(16;6.21e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			ACTTTCTCAGTGCCCATCTCC	0.453																																						ENST00000316891.5																			0				breast(1)|large_intestine(5)|liver(1)|lung(3)|ovary(2)|pancreas(1)|stomach(1)|urinary_tract(1)	15						c.(430-432)Act>Tct		tRNA isopentenyltransferase 1							202	189	193					1																	40318533		2203	4300	6503	SO:0001583	missense	54802				tRNA processing	mitochondrion	ATP binding|metal ion binding|tRNA dimethylallyltransferase activity	g.chr1:40318533T>A	AF074918	CCDS30681.1	1p34.2	2012-10-05			ENSG00000043514	ENSG00000043514	2.5.1.8		20286	protein-coding gene	gene with protein product						11111046, 15870694	Standard	NM_017646		Approved	FLJ20061, IPT	uc021olz.1	Q9H3H1	OTTHUMG00000009245	ENST00000316891.5:c.430A>T	1.37:g.40318533T>A	ENSP00000321810:p.Thr144Ser					TRIT1_ENST00000372818.1_Missense_Mutation_p.T144S|TRIT1_ENST00000545233.1_Intron|TRIT1_ENST00000544981.1_Intron|TRIT1_ENST00000541099.1_Intron|TRIT1_ENST00000537440.1_Intron|TRIT1_ENST00000537223.1_Intron|TRIT1_ENST00000491865.1_Intron|TRIT1_ENST00000441669.2_Missense_Mutation_p.T64S	p.T144S	NM_017646.4	NP_060116.2	Q9H3H1	MOD5_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;3.29e-18)|Epithelial(16;3.07e-17)|all cancers(16;6.21e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)		4	444	-	all_cancers(7;4.55e-14)|all_lung(5;1.23e-16)|all_epithelial(6;2.17e-16)|Lung NSC(20;7.03e-07)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	144					A1A4X7|Q3T7B5|Q5QPK5|Q5QPK6|Q6IAC9|Q96FJ3|Q96L45|Q9NXT7	Missense_Mutation	SNP	ENST00000316891.5	37	c.430A>T	CCDS30681.1	.	.	.	.	.	.	.	.	.	.	T	7.987	0.752492	0.15778	.	.	ENSG00000043514	ENST00000046894;ENST00000372825;ENST00000441669;ENST00000316891;ENST00000372818	T;T	0.43294	0.95;0.95	3.99	3.99	0.46301	.	0.433363	0.28510	N	0.015088	T	0.16811	0.0404	N	0.05012	-0.13	0.09310	N	0.999997	B;B;B	0.09022	0.0;0.0;0.002	B;B;B	0.12837	0.004;0.008;0.003	T	0.23583	-1.0184	10	0.08599	T	0.76	-11.4479	5.6679	0.17704	0.0:0.0932:0.1731:0.7338	.	144;144;64	Q9H3H1;Q9H3H1-4;Q9H3H1-5	MOD5_HUMAN;.;.	S	144;64;58;144;144	ENSP00000321810:T144S;ENSP00000361905:T144S	ENSP00000046894:T144S	T	-	1	0	TRIT1	40091120	0.007000	0.16637	0.829000	0.32907	0.699000	0.40488	0.341000	0.19909	2.025000	0.59659	0.383000	0.25322	ACT		0.453	TRIT1-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025627.2	NM_017646		47	104	0	0	0	1	0	47	104					A	40318533	T	A	40318533	3	1	215	1	0	0	0	0	1	0	0	0	16557	1696	59	5	1005	5	TRIT1	1	40318533	Missense_Mutation	SNP	T	TCGA-HC-7744-01A-11D-2114-08	20819031	40318533	208932088	3	9873											
EPS8L3	79574	broad.mit.edu	37	chr1	110301232	110301232	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatagggagcggcctttccAtagcaggccccctccatctg	7	8	10	16	1	1	0	0	0	1	0	3	1	3	1	6	3	2	1	6	3	2	3			TCGA-HC-7744-01A-11D-2114-08	TCGA-HC-7744-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0192d529-7340-45d8-a5f0-249cbb11ca19	12e7e0e3-0619-4659-ac66-f999415ad396	g.chr1:110301232A>G	ENST00000361965.4	-	7	621	c.515T>C	c.(514-516)aTg>aCg	p.M172T	RP4-735C1.4_ENST00000431955.1_RNA|EPS8L3_ENST00000369805.3_Missense_Mutation_p.M173T|EPS8L3_ENST00000494151.1_5'UTR|EPS8L3_ENST00000361852.4_Missense_Mutation_p.M172T	NM_133181.3	NP_573444.2	Q8TE67	ES8L3_HUMAN	EPS8-like 3	172	Pro-rich.					cytoplasm (GO:0005737)				breast(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|upper_aerodigestive_tract(1)	32		all_epithelial(167;1.95e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)		Lung(183;0.0245)|Colorectal(144;0.0365)|all cancers(265;0.103)|Epithelial(280;0.109)|LUSC - Lung squamous cell carcinoma(189;0.137)|COAD - Colon adenocarcinoma(174;0.141)		CGGCCTTTCCATAGCAGGCCC	0.597																																						ENST00000369805.3																			0				breast(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|upper_aerodigestive_tract(1)	32						c.(517-519)aTg>aCg		EPS8-like 3							60	57	58					1																	110301232		2203	4300	6503	SO:0001583	missense	79574					cytoplasm	protein binding	g.chr1:110301232A>G	AK025175	CCDS813.1, CCDS814.1, CCDS815.1	1p13.2	2008-02-05			ENSG00000198758	ENSG00000198758			21297	protein-coding gene	gene with protein product		614989				12620401	Standard	NM_139053		Approved	FLJ21522, MGC16817	uc001dyq.2	Q8TE67	OTTHUMG00000011651	ENST00000361965.4:c.515T>C	1.37:g.110301232A>G	ENSP00000355255:p.Met172Thr					EPS8L3_ENST00000494151.1_5'UTR|RP4-735C1.4_ENST00000431955.1_RNA|EPS8L3_ENST00000361852.4_Missense_Mutation_p.M172T|EPS8L3_ENST00000361965.4_Missense_Mutation_p.M172T	p.M173T	NM_133181.3|NM_139053.2	NP_573444.2|NP_620641.1	Q8TE67	ES8L3_HUMAN		Lung(183;0.0245)|Colorectal(144;0.0365)|all cancers(265;0.103)|Epithelial(280;0.109)|LUSC - Lung squamous cell carcinoma(189;0.137)|COAD - Colon adenocarcinoma(174;0.141)	7	747	-		all_epithelial(167;1.95e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)	172			Pro-rich.		A8K833|Q5T8Q6|Q5T8Q7|Q5T8Q8|Q96E47|Q9H719	Missense_Mutation	SNP	ENST00000361965.4	37	c.518T>C	CCDS814.1	.	.	.	.	.	.	.	.	.	.	A	5.062	0.197041	0.09599	.	.	ENSG00000198758	ENST00000361852;ENST00000369805;ENST00000361965	T;T;T	0.59224	2.64;0.28;0.28	5.35	-1.1	0.09872	.	0.965697	0.08555	N	0.928396	T	0.13756	0.0333	N	0.14661	0.345	0.09310	N	1	B;B;B;B	0.17268	0.005;0.021;0.001;0.009	B;B;B;B	0.15870	0.0;0.014;0.0;0.006	T	0.21075	-1.0256	10	0.23302	T	0.38	-1.0812	4.1323	0.10154	0.4766:0.0:0.3627:0.1607	.	172;172;172;173	A8K2J6;Q8TE67-2;Q8TE67;Q8TE67-3	.;.;ES8L3_HUMAN;.	T	172;173;172	ENSP00000354551:M172T;ENSP00000358820:M173T;ENSP00000355255:M172T	ENSP00000354551:M172T	M	-	2	0	EPS8L3	110102755	0.003000	0.15002	0.041000	0.18516	0.015000	0.08874	0.062000	0.14389	0.101000	0.17610	-0.274000	0.10170	ATG		0.597	EPS8L3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000032234.1	NM_024526		24	42	0	0	0	1	0	24	42					G	110301232	A	G	110301232	3	3	215	1	0	0	0	0	1	0	0	0	5197	217	8	4	1318	4	EPS8L3	1	110301232	Missense_Mutation	SNP	A	TCGA-HC-7744-01A-11D-2114-08	69982699	110301232	138949389	4	9874											
NOTCH2NL	388677	broad.mit.edu	37	chr1	145281379	145281379	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cttcctttaggtaaggagtgCcaatggaccgatgcctgcct	8	11	11	11	1	0	0	0	0	0	0	1	3	1	2	5	3	3	1	5	3	3	4			TCGA-HC-7744-01A-11D-2114-08	TCGA-HC-7744-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0192d529-7340-45d8-a5f0-249cbb11ca19	12e7e0e3-0619-4659-ac66-f999415ad396	g.chr1:145281379C>G	ENST00000369340.3	+	5	753	c.309C>G	c.(307-309)tgC>tgG	p.C103W	NOTCH2NL_ENST00000362074.6_Missense_Mutation_p.C103W|NOTCH2NL_ENST00000344859.3_Missense_Mutation_p.C103W|RP11-458D21.5_ENST00000468030.1_Missense_Mutation_p.C103W			Q7Z3S9	NT2NL_HUMAN	notch 2 N-terminal like	103	EGF-like 3. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|Notch signaling pathway (GO:0007219)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	27						GTAAGGAGTGCCAATGGACCG	0.507																																						ENST00000369340.3																			0				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	27						c.(307-309)tgC>tgG		notch 2 N-terminal like							333	339	337					1																	145281379		2203	4298	6501	SO:0001583	missense	388677				cell differentiation|multicellular organismal development|Notch signaling pathway	cytoplasm|extracellular region	calcium ion binding	g.chr1:145281379C>G		CCDS72880.1	1q21.2	2010-06-24	2010-06-24		ENSG00000213240	ENSG00000213240			31862	protein-coding gene	gene with protein product			"Notch homolog 2 (Drosophila) N-terminal like"			14673143	Standard	NM_203458		Approved	N2N	uc001emn.4	Q7Z3S9	OTTHUMG00000013754	ENST00000369340.3:c.309C>G	1.37:g.145281379C>G	ENSP00000358346:p.Cys103Trp					NOTCH2NL_ENST00000362074.6_Missense_Mutation_p.C103W|NOTCH2NL_ENST00000344859.3_Missense_Mutation_p.C103W|RP11-458D21.5_ENST00000468030.1_Missense_Mutation_p.C103W	p.C103W			Q7Z3S9	NT2NL_HUMAN			5	753	+			103			EGF-like 3.		Q5BKT8|Q5VTG9|Q5XG84|Q6P192|Q8NC23|Q8WUQ9|Q96FY1	Missense_Mutation	SNP	ENST00000369340.3	37	c.309C>G	CCDS909.1	.	.	.	.	.	.	.	.	.	.	C	12.52	1.961553	0.34659	.	.	ENSG00000213240	ENST00000362074;ENST00000344859;ENST00000369340	D;D;D	0.90133	-2.62;-2.62;-2.62	2.87	1.91	0.25777	Epidermal growth factor-like (1);EGF-like region, conserved site (2);Epidermal growth factor-like, type 3 (1);	.	.	.	.	D	0.95968	0.8687	H	0.99026	4.405	0.54753	D	0.999984	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.997	D	0.94040	0.7308	9	0.87932	D	0	.	6.9681	0.24635	0.0:0.8454:0.0:0.1546	.	103;103	Q7Z3S9-2;Q7Z3S9	.;NT2NL_HUMAN	W	103	ENSP00000354929:C103W;ENSP00000344557:C103W;ENSP00000358346:C103W	ENSP00000344557:C103W	C	+	3	2	NOTCH2NL	143992736	0.978000	0.34361	0.999000	0.59377	0.798000	0.45092	0.245000	0.18142	0.497000	0.27926	0.400000	0.26472	TGC		0.507	NOTCH2NL-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000038546.1	NM_203458		63	641	0	0	0	1	0	63	641					G	145281379	C	G	145281379	3	3	215	1	0	0	0	0	1	0	0	0	10549	747	26	5	319	5	NOTCH2NL	1	145281379	Missense_Mutation	SNP	C	TCGA-HC-7744-01A-11D-2114-08	34980147	145281379	103969242	5	9875											
SPTA1	6708	broad.mit.edu	37	chr1	158615323	158615323	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gatctctatgccagttaagtCttcggccagctcctgtgatg	7	13	10	11	1	2	1	0	1	2	0	5	2	3	1	3	1	2	2	3	1	2	3			TCGA-HC-7744-01A-11D-2114-08	TCGA-HC-7744-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0192d529-7340-45d8-a5f0-249cbb11ca19	12e7e0e3-0619-4659-ac66-f999415ad396	g.chr1:158615323C>G	ENST00000368147.4	-	28	4138	c.3958G>C	c.(3958-3960)Gac>Cac	p.D1320H		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	1320					actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					CCAGTTAAGTCTTCGGCCAGC	0.418																																						ENST00000368148.3																			0				NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307						c.(3958-3960)Gac>Cac		spectrin, alpha, erythrocytic 1 (elliptocytosis 2)							159	157	158					1																	158615323		2022	4164	6186	SO:0001583	missense	6708				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	g.chr1:158615323C>G	M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"EF-hand domain containing"	11272	protein-coding gene	gene with protein product	"elliptocytosis 2"	182860	"spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.3958G>C	1.37:g.158615323C>G	ENSP00000357129:p.Asp1320His					SPTA1_ENST00000368147.3_Missense_Mutation_p.D1320H	p.D1320H	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN			28	4138	-	all_hematologic(112;0.0378)		1320					Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Missense_Mutation	SNP	ENST00000368147.4	37	c.3958G>C	CCDS41423.1	.	.	.	.	.	.	.	.	.	.	C	25.4	4.639255	0.87760	.	.	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.49432	0.78;0.78	5.07	5.07	0.68467	.	.	.	.	.	T	0.69006	0.3063	M	0.87900	2.915	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	T	0.74532	-0.3634	9	0.72032	D	0.01	.	17.2029	0.86910	0.0:1.0:0.0:0.0	.	1320	P02549	SPTA1_HUMAN	H	1320	ENSP00000357130:D1320H;ENSP00000357129:D1320H	ENSP00000357129:D1320H	D	-	1	0	SPTA1	156881947	1.000000	0.71417	0.951000	0.38953	0.984000	0.73092	6.910000	0.75741	2.635000	0.89317	0.655000	0.94253	GAC		0.418	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126		9	157	0	0	0	1	0	9	157					G	158615323	C	G	158615323	3	3	215	1	0	0	0	0	1	0	0	0	15115	913	32	5	3401	5	SPTA1	1	158615323	Missense_Mutation	SNP	C	TCGA-HC-7744-01A-11D-2114-08	13333944	158615323	90635298	6	9876											
VANGL2	57216	broad.mit.edu	37	chr1	160385959	160385959	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gctggacaatgagtccacacGaggggatgagcgggtgagca	11	5	17	8	2	0	3	0	3	0	0	1	6	1	5	1	4	2	2	1	4	1	0			TCGA-HC-7744-01A-11D-2114-08	TCGA-HC-7744-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0192d529-7340-45d8-a5f0-249cbb11ca19	12e7e0e3-0619-4659-ac66-f999415ad396	g.chr1:160385959G>A	ENST00000368061.2	+	3	653	c.179G>A	c.(178-180)cGa>cAa	p.R60Q		NM_020335.2	NP_065068.1	Q9ULK5	VANG2_HUMAN	VANGL planar cell polarity protein 2	60					anterior/posterior pattern specification (GO:0009952)|apical protein localization (GO:0045176)|cell migration involved in kidney development (GO:0035787)|cochlea morphogenesis (GO:0090103)|convergent extension involved in axis elongation (GO:0060028)|convergent extension involved in neural plate elongation (GO:0022007)|digestive tract morphogenesis (GO:0048546)|establishment of body hair planar orientation (GO:0048105)|establishment of planar polarity (GO:0001736)|establishment of planar polarity involved in neural tube closure (GO:0090177)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|glomerulus development (GO:0032835)|hair follicle development (GO:0001942)|heart looping (GO:0001947)|inner ear receptor stereocilium organization (GO:0060122)|kidney morphogenesis (GO:0060993)|lateral sprouting involved in lung morphogenesis (GO:0060490)|membranous septum morphogenesis (GO:0003149)|muscular septum morphogenesis (GO:0003150)|neural tube closure (GO:0001843)|nonmotile primary cilium assembly (GO:0035058)|orthogonal dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060488)|planar cell polarity pathway involved in axis elongation (GO:0003402)|planar cell polarity pathway involved in heart morphogenesis (GO:0061346)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|planar dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060489)|positive regulation of JUN kinase activity (GO:0043507)|post-anal tail morphogenesis (GO:0036342)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of Wnt signaling pathway (GO:0030111)|Rho protein signal transduction (GO:0007266)|somatic stem cell division (GO:0048103)|somatic stem cell maintenance (GO:0035019)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell pole (GO:0060187)|cell-cell junction (GO:0005911)|ER to Golgi transport vesicle (GO:0030134)|integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)				biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(1)	37	all_cancers(52;1.08e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			GAGTCCACACGAGGGGATGAG	0.657																																						ENST00000368061.2																			0				biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(1)	37						c.(178-180)cGa>cAa		VANGL planar cell polarity protein 2							39	44	42					1																	160385959		2203	4300	6503	SO:0001583	missense	57216				apical protein localization|heart looping|nonmotile primary cilium assembly	apical plasma membrane|integral to membrane		g.chr1:160385959G>A	AB033041	CCDS30915.1	1q22-q23	2013-03-05	2013-03-05		ENSG00000162738	ENSG00000162738			15511	protein-coding gene	gene with protein product	"vang, van gogh-like 2", "loop-tail-associated protein", "strabismus"	600533	"vang (van gogh, Drosophila)-like 2, vang, van gogh-like 2 (Drosophila)", "vang-like 2 (van gogh, Drosophila)"			11431695	Standard	NM_020335		Approved	KIAA1215, LTAP, LPP1, STBM, STB1, STBM1, MGC119403, MGC119404	uc001fwc.2	Q9ULK5	OTTHUMG00000033122	ENST00000368061.2:c.179G>A	1.37:g.160385959G>A	ENSP00000357040:p.Arg60Gln						p.R60Q	NM_020335.2	NP_065068.1	Q9ULK5	VANG2_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)		3	653	+	all_cancers(52;1.08e-18)|all_hematologic(112;0.093)		60					D3DVE9|Q5T212	Missense_Mutation	SNP	ENST00000368061.2	37	c.179G>A	CCDS30915.1	.	.	.	.	.	.	.	.	.	.	G	25.2	4.611233	0.87258	.	.	ENSG00000162738	ENST00000368061	T	0.80393	-1.37	4.55	4.55	0.56014	.	0.000000	0.64402	D	0.000002	D	0.82628	0.5078	M	0.73598	2.24	0.41364	D	0.987444	D	0.76494	0.999	P	0.59221	0.854	T	0.80346	-0.1421	10	0.22706	T	0.39	-6.0512	14.8376	0.70194	0.0:0.0:1.0:0.0	.	60	Q9ULK5	VANG2_HUMAN	Q	60	ENSP00000357040:R60Q	ENSP00000357040:R60Q	R	+	2	0	VANGL2	158652583	1.000000	0.71417	0.636000	0.29352	0.972000	0.66771	8.963000	0.93385	2.354000	0.79902	0.461000	0.40582	CGA		0.657	VANGL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080677.1	NM_020335		29	68	0	0	0	1	0	29	68					A	160385959	G	A	160385959	3	1	215	1	0	0	0	0	1	0	0	0	17117	1058	37	2	185	2	VANGL2	1	160385959	Missense_Mutation	SNP	G	TCGA-HC-7744-01A-11D-2114-08	1770636	160385959	88864662	7	9877											
SLC30A10	55532	broad.mit.edu	37	chr1	220091782	220091782	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcacatagaatatgatggccGtgatgaccacaaccacggac	14	6	10	11	2	0	4	0	3	0	1	0	5	0	5	3	2	1	1	3	2	4	2			TCGA-HC-7744-01A-11D-2114-08	TCGA-HC-7744-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0192d529-7340-45d8-a5f0-249cbb11ca19	12e7e0e3-0619-4659-ac66-f999415ad396	g.chr1:220091782G>A	ENST00000366926.3	-	3	934	c.773C>T	c.(772-774)aCg>aTg	p.T258M	SLC30A10_ENST00000484079.1_5'UTR|SLC30A10_ENST00000536446.1_Missense_Mutation_p.T13M	NM_018713.2	NP_061183.2	Q6XR72	ZNT10_HUMAN	solute carrier family 30, member 10	258					zinc ion transport (GO:0006829)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cation transmembrane transporter activity (GO:0008324)			NS(1)|endometrium(1)|large_intestine(1)|lung(9)|skin(1)	13				GBM - Glioblastoma multiforme(131;0.051)|all cancers(67;0.209)		TATGATGGCCGTGATGACCAC	0.512																																					Colon(76;360 1614 43677 51136)	ENST00000366926.3																			0				NS(1)|endometrium(1)|large_intestine(1)|lung(9)|skin(1)	13						c.(772-774)aCg>aTg		solute carrier family 30, member 10							164	144	151					1																	220091782		2203	4300	6503	SO:0001583	missense	55532				zinc ion transport	integral to membrane|plasma membrane	cation transmembrane transporter activity	g.chr1:220091782G>A	AY212919	CCDS31026.1	1q41	2013-05-22			ENSG00000196660	ENSG00000196660		"Solute carriers"	25355	protein-coding gene	gene with protein product	"zinc transporter 8"	611146				15154973	Standard	NR_046437		Approved	DKFZp547M236, ZnT-10, ZRC1, ZNT8	uc001hlw.3	Q6XR72	OTTHUMG00000037434	ENST00000366926.3:c.773C>T	1.37:g.220091782G>A	ENSP00000355893:p.Thr258Met					SLC30A10_ENST00000536446.1_Missense_Mutation_p.T13M|SLC30A10_ENST00000484079.1_5'UTR	p.T258M	NM_018713.2	NP_061183.2	Q6XR72	ZNT10_HUMAN		GBM - Glioblastoma multiforme(131;0.051)|all cancers(67;0.209)	3	934	-			258					Q49AL9|Q9NPW0	Missense_Mutation	SNP	ENST00000366926.3	37	c.773C>T	CCDS31026.1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.344702	0.82022	.	.	ENSG00000196660	ENST00000366926;ENST00000536446	T;T	0.63580	-0.05;-0.05	6.02	6.02	0.97574	.	0.244211	0.42821	D	0.000642	T	0.80132	0.4567	M	0.79123	2.44	0.80722	D	1	D	0.89917	1.0	D	0.65773	0.938	T	0.78645	-0.2123	9	.	.	.	-20.5412	20.5269	0.99230	0.0:0.0:1.0:0.0	.	258	Q6XR72	ZNT10_HUMAN	M	258;13	ENSP00000355893:T258M;ENSP00000439489:T13M	.	T	-	2	0	SLC30A10	218158405	1.000000	0.71417	0.969000	0.41365	0.981000	0.71138	6.125000	0.71627	2.859000	0.98148	0.591000	0.81541	ACG		0.512	SLC30A10-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357709.1	NM_018713		52	88	0	0	0	1	0	52	88					A	220091782	G	A	220091782	3	1	215	1	0	0	0	0	1	0	0	0	14554	1145	40	1	692	1	SLC30A10	1	220091782	Missense_Mutation	SNP	G	TCGA-HC-7744-01A-11D-2114-08	59705823	220091782	29158839	8	9878											
ARID4B	51742	broad.mit.edu	37	chr1	235338686	235338686	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttagttatactttcaccagcTgaaagttcttcactatcact	11	16	4	10	0	4	1	3	1	1	0	4	1	4	1	1	0	2	3	1	0	5	7	rs376544379		TCGA-HC-7744-01A-11D-2114-08	TCGA-HC-7744-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0192d529-7340-45d8-a5f0-249cbb11ca19	12e7e0e3-0619-4659-ac66-f999415ad396	g.chr1:235338686T>G	ENST00000264183.3	-	22	3974	c.3477A>C	c.(3475-3477)tcA>tcC	p.S1159S	ARID4B_ENST00000366603.2_Silent_p.S1159S|ARID4B_ENST00000494543.1_5'Flank|ARID4B_ENST00000349213.3_Silent_p.S1073S	NM_016374.5	NP_057458.4	Q4LE39	ARI4B_HUMAN	AT rich interactive domain 4B (RBP1-like)	1159					histone H3-K9 trimethylation (GO:0036124)|histone H4-K20 trimethylation (GO:0034773)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|breast(2)|large_intestine(2)|lung(1)|ovary(2)	8	Ovarian(103;0.0473)|Breast(184;0.23)	all_cancers(173;0.000782)|Prostate(94;0.0132)|all_epithelial(177;0.0808)|Lung SC(1967;0.24)	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)			TTTCACCAGCTGAAAGTTCTT	0.353																																						ENST00000264183.3																			0				NS(1)|breast(2)|large_intestine(2)|lung(1)|ovary(2)	8						c.(3475-3477)tcA>tcC		AT rich interactive domain 4B (RBP1-like)							97	99	99					1																	235338686		2203	4300	6503	SO:0001819	synonymous_variant	51742				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding	g.chr1:235338686T>G	AF214114	CCDS31060.1, CCDS31061.1	1q42.1-q43	2013-02-07	2006-11-08	2004-01-30	ENSG00000054267	ENSG00000054267		"-"	15550	protein-coding gene	gene with protein product		609696	"retinoblastoma binding protein 1-like 1", "AT rich interactive domain 4B (RBP1- like)"	RBP1L1		11481388	Standard	NM_016374		Approved	BCAA, BRCAA1, SAP180	uc001hwq.3	Q4LE39	OTTHUMG00000039621	ENST00000264183.3:c.3477A>C	1.37:g.235338686T>G						ARID4B_ENST00000349213.3_Silent_p.S1073S|ARID4B_ENST00000366603.2_Silent_p.S1159S	p.S1159S	NM_016374.5	NP_057458.4	Q4LE39	ARI4B_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)		22	3974	-	Ovarian(103;0.0473)|Breast(184;0.23)	all_cancers(173;0.000782)|Prostate(94;0.0132)|all_epithelial(177;0.0808)|Lung SC(1967;0.24)	1159					A1L465|Q3MHV4|Q5HY99|Q5T2C2|Q5T2C3|Q5T2C4|Q5T2C5|Q5T2C6|Q6P600|Q86UX1|Q86WR4|Q9H915|Q9NYU3|Q9NZB6|Q9NZG4|Q9P2W4|Q9UF62|Q9Y6E1	Silent	SNP	ENST00000264183.3	37	c.3477A>C	CCDS31061.1																																																																																				0.353	ARID4B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095566.3	NM_016374		4	103	0	0	0	1	0	4	103					G	235338686	T	G	235338686	2	3	215	1	0	0	0	0	0	0	0	1	920	1567	55	5		5	ARID4B	1	235338686	Silent	SNP	T	TCGA-HC-7744-01A-11D-2114-08	15246904	235338686	13911935	9	9879											
SPAST	6683	broad.mit.edu	37	chr2	32312619	32312619	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggtattgaagaactggaaaaAggaatagctgttatagttac	16	11	11	3	0	0	2	0	1	0	1	0	4	0	4	0	3	3	4	0	3	10	6			TCGA-HC-7744-01A-11D-2114-08	TCGA-HC-7744-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0192d529-7340-45d8-a5f0-249cbb11ca19	12e7e0e3-0619-4659-ac66-f999415ad396	g.chr2:32312619A>G	ENST00000315285.3	+	2	599	c.474A>G	c.(472-474)aaA>aaG	p.K158K	SPAST_ENST00000345662.1_Silent_p.K158K|AL121655.1_ENST00000577299.1_RNA	NM_014946.3	NP_055761.2			spastin											breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(8)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					AACTGGAAAAAGGAATAGCTG	0.318																																						ENST00000315285.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(8)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						c.(472-474)aaA>aaG		spastin							133	143	140					2																	32312619		2203	4300	6503	SO:0001819	synonymous_variant	6683				cell cycle|cell death|cell differentiation|cytokinesis, completion of separation|ER to Golgi vesicle-mediated transport|microtubule bundle formation|microtubule severing|nervous system development|protein hexamerization|protein homooligomerization	endoplasmic reticulum|endosome|integral to membrane|microtubule|microtubule organizing center|nucleus|perinuclear region of cytoplasm|spindle	alpha-tubulin binding|ATP binding|beta-tubulin binding|microtubule binding|microtubule-severing ATPase activity	g.chr2:32312619A>G	AJ246001	CCDS1778.1, CCDS1779.1	2p24-p21	2014-09-17	2005-03-15	2005-03-17	ENSG00000021574	ENSG00000021574		"ATPases / AAA-type"	11233	protein-coding gene	gene with protein product		604277	"spastic paraplegia 4 (autosomal dominant; spastin)"	SPG4		10493830, 10610178	Standard	NM_014946		Approved	FSP2, ADPSP, KIAA1083	uc002roc.3	Q9UBP0	OTTHUMG00000128455	ENST00000315285.3:c.474A>G	2.37:g.32312619A>G						SPAST_ENST00000345662.1_Silent_p.K158K	p.K158K	NM_014946.3	NP_055761.2	Q9UBP0	SPAST_HUMAN			2	599	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)		158			MIT.|Required for interaction with RTN1.|Required for interaction with microtubules.|Required for midbody localization.|Sufficient for interaction with CHMP1B.			Silent	SNP	ENST00000315285.3	37	c.474A>G	CCDS1778.1																																																																																				0.318	SPAST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250253.1	NM_199436		4	110	0	0	0	1	0	4	110					G	32312619	A	G	32312619	2	3	215	1	0	0	0	0	0	0	0	1	14996	69	3	4		4	SPAST	2	32312619	Silent	SNP	A	TCGA-HC-7744-01A-11D-2114-08		32312619	210886754	10	9880											
GTDC1	79712	broad.mit.edu	37	chr2	144714783	144714783	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgccactccaaagaattcaTgcttagctgttgagatgaca	12	12	8	9	0	1	3	1	2	0	2	2	4	2	3	2	0	3	3	2	0	3	4			TCGA-HC-7744-01A-11D-2114-08	TCGA-HC-7744-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0192d529-7340-45d8-a5f0-249cbb11ca19	12e7e0e3-0619-4659-ac66-f999415ad396	g.chr2:144714783T>A	ENST00000392869.2	-	8	1261	c.1109A>T	c.(1108-1110)cAt>cTt	p.H370L	GTDC1_ENST00000344850.4_Missense_Mutation_p.H370L|AC016910.1_ENST00000422799.1_RNA|GTDC1_ENST00000463875.2_Missense_Mutation_p.H241L|GTDC1_ENST00000409298.1_Missense_Mutation_p.H252L|GTDC1_ENST00000542155.1_Missense_Mutation_p.H370L|GTDC1_ENST00000409214.1_Missense_Mutation_p.H370L|GTDC1_ENST00000392867.3_Intron|GTDC1_ENST00000241391.5_Intron	NM_001284234.1	NP_001271163.1	Q4AE62	GTDC1_HUMAN	glycosyltransferase-like domain containing 1	370					biosynthetic process (GO:0009058)		transferase activity, transferring glycosyl groups (GO:0016757)			central_nervous_system(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(17)|ovary(1)	25				BRCA - Breast invasive adenocarcinoma(221;0.0914)		AAAGAATTCATGCTTAGCTGT	0.388																																						ENST00000409214.1																			0				central_nervous_system(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(17)|ovary(1)	25						c.(1108-1110)cAt>cTt		glycosyltransferase-like domain containing 1							124	113	117					2																	144714783		2203	4300	6503	SO:0001583	missense	79712				biosynthetic process		transferase activity, transferring glycosyl groups	g.chr2:144714783T>A	AY281366	CCDS2185.1, CCDS33300.1, CCDS63029.1, CCDS74582.1, CCDS74583.1	2q22.3	2013-02-22			ENSG00000121964	ENSG00000121964		"Glycosyltransferase group 1 domain containing"	20887	protein-coding gene	gene with protein product	"mannosyltransferase-like"	610165				15068588, 21821951	Standard	NM_024659		Approved	FLJ11753, Hmat-Xa	uc010fnn.3	Q4AE62	OTTHUMG00000131835	ENST00000392869.2:c.1109A>T	2.37:g.144714783T>A	ENSP00000376608:p.His370Leu					AC016910.1_ENST00000422799.1_RNA|GTDC1_ENST00000241391.5_Intron|GTDC1_ENST00000409298.1_Missense_Mutation_p.H252L|GTDC1_ENST00000392867.3_Intron|GTDC1_ENST00000344850.4_Missense_Mutation_p.H370L|GTDC1_ENST00000392869.1_Missense_Mutation_p.H370L|GTDC1_ENST00000542155.1_Missense_Mutation_p.H370L|GTDC1_ENST00000463875.2_Missense_Mutation_p.H241L	p.H370L	NM_001006636.3	NP_001006637.1	Q4AE62	GTDC1_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0914)	9	1387	-			370					A8K5P2|D3DP81|Q53SM7|Q53TC5|Q6P7E7|Q6PJB6|Q6WKW6|Q9HAE5	Missense_Mutation	SNP	ENST00000392869.2	37	c.1109A>T	CCDS33300.1	.	.	.	.	.	.	.	.	.	.	T	19.62	3.860953	0.71949	.	.	ENSG00000121964	ENST00000392869;ENST00000409214;ENST00000409298;ENST00000542155;ENST00000344850;ENST00000463875	T;T;T;T;T;T	0.79033	-0.92;-0.92;-1.23;-0.92;-0.92;-0.92	5.93	5.93	0.95920	Glycosyl transferase, family 1 (1);	0.000000	0.85682	D	0.000000	D	0.90270	0.6957	M	0.90425	3.115	0.80722	D	1	D;D;D	0.89917	1.0;0.997;1.0	D;D;D	0.91635	0.998;0.995;0.999	D	0.91919	0.5546	10	0.66056	D	0.02	-3.5174	16.3943	0.83563	0.0:0.0:0.0:1.0	.	370;252;370	G1UFN1;B8ZZ45;Q4AE62	.;.;GTDC1_HUMAN	L	370;370;252;370;370;241	ENSP00000376608:H370L;ENSP00000386581:H370L;ENSP00000386691:H252L;ENSP00000438323:H370L;ENSP00000339750:H370L;ENSP00000437964:H241L	ENSP00000339750:H370L	H	-	2	0	GTDC1	144431253	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.545000	0.82128	2.281000	0.76405	0.533000	0.62120	CAT		0.388	GTDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254779.2	NM_024659		21	40	0	0	0	1	0	21	40					A	144714783	T	A	144714783	3	1	215	1	0	0	0	0	1	0	0	0	6851	1464	51	5	283	5	GTDC1	2	144714783	Missense_Mutation	SNP	T	TCGA-HC-7744-01A-11D-2114-08	112402164	144714783	98484590	11	9881											
PIKFYVE	200576	broad.mit.edu	37	chr2	209204774	209204774	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgggatccacagacagccAagtgaaggaaaagtcaacca	16	4	11	10	0	1	2	1	1	0	1	2	4	2	4	3	2	2	1	3	2	5	0			TCGA-HC-7744-01A-11D-2114-08	TCGA-HC-7744-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0192d529-7340-45d8-a5f0-249cbb11ca19	12e7e0e3-0619-4659-ac66-f999415ad396	g.chr2:209204774A>C	ENST00000264380.4	+	31	5008	c.4850A>C	c.(4849-4851)cAa>cCa	p.Q1617P		NM_015040.3	NP_055855.2	Q9Y2I7	FYV1_HUMAN	phosphoinositide kinase, FYVE finger containing	1617					cellular protein metabolic process (GO:0044267)|intracellular signal transduction (GO:0035556)|myelin assembly (GO:0032288)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phospholipid metabolic process (GO:0006644)|protein localization to nucleus (GO:0034504)|retrograde transport, endosome to Golgi (GO:0042147)|small molecule metabolic process (GO:0044281)	cell-cell junction (GO:0005911)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|early endosome membrane (GO:0031901)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|late endosome membrane (GO:0031902)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|vesicle membrane (GO:0012506)	1-phosphatidylinositol-3-phosphate 5-kinase activity (GO:0000285)|1-phosphatidylinositol-4-phosphate 5-kinase activity (GO:0016308)|ATP binding (GO:0005524)|phosphatidylinositol-3,5-bisphosphate 5-phosphatase activity (GO:0043813)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(14)|kidney(6)|large_intestine(25)|lung(40)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	107						ACAGACAGCCAAGTGAAGGAA	0.328																																						ENST00000264380.4																			0				NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(14)|kidney(6)|large_intestine(25)|lung(40)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	107						c.(4849-4851)cAa>cCa		phosphoinositide kinase, FYVE finger containing							112	116	115					2																	209204774		2203	4300	6503	SO:0001583	missense	200576				cellular protein metabolic process|intracellular signal transduction|protein localization to nucleus|retrograde transport, endosome to Golgi	early endosome membrane|membrane raft	1-phosphatidylinositol-3-phosphate 5-kinase activity|1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|metal ion binding|protein binding	g.chr2:209204774A>C	AB023198	CCDS2382.1, CCDS33368.1, CCDS54431.1	2q34	2014-01-15	2009-04-17	2009-04-17	ENSG00000115020	ENSG00000115020		"Zinc fingers, FYVE domain containing"	23785	protein-coding gene	gene with protein product	"zinc finger, FYVE domain containing 29"	609414	"phosphatidylinositol-3-phosphate/phosphatidylinositol 5-kinase, type III"	PIP5K3		9858586, 12270933	Standard	NM_015040		Approved	MGC40423, KIAA0981, PIKfyve, PIP5K, p235, ZFYVE29, FAB1	uc002vcz.3	Q9Y2I7	OTTHUMG00000132945	ENST00000264380.4:c.4850A>C	2.37:g.209204774A>C	ENSP00000264380:p.Gln1617Pro						p.Q1617P	NM_015040.3	NP_055855.2	Q9Y2I7	FYV1_HUMAN			31	5008	+			1617					Q08AR7|Q08AR8|Q53ST3|Q53T36|Q8N5H0|Q8NB67	Missense_Mutation	SNP	ENST00000264380.4	37	c.4850A>C	CCDS2382.1	.	.	.	.	.	.	.	.	.	.	A	18.23	3.578675	0.65878	.	.	ENSG00000115020	ENST00000264380	T	0.32272	1.46	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	T	0.41627	0.1167	L	0.27053	0.805	0.80722	D	1	D	0.67145	0.996	D	0.72982	0.979	T	0.17561	-1.0365	10	0.28530	T	0.3	-13.3148	15.6556	0.77133	1.0:0.0:0.0:0.0	.	1617	Q9Y2I7	FYV1_HUMAN	P	1617	ENSP00000264380:Q1617P	ENSP00000264380:Q1617P	Q	+	2	0	PIKFYVE	208913019	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	8.962000	0.93254	2.099000	0.63709	0.455000	0.32223	CAA		0.328	PIKFYVE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256477.2	NM_015040		59	59	0	0	0	1	0	59	59					C	209204774	A	C	209204774	3	2	215	1	0	0	0	0	1	0	0	0	11924	130	5	5	4979	5	PIKFYVE	2	209204774	Missense_Mutation	SNP	A	TCGA-HC-7744-01A-11D-2114-08	64489991	209204774	33994599	12	9882											
XPC	7508	broad.mit.edu	37	chr3	14212034	14212034	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagatggtgtgccttcttgaGgtcacttggaaagtccctgt	7	13	12	9	0	2	2	1	1	1	1	3	3	3	3	2	3	1	0	2	3	1	3			TCGA-HC-7744-01A-11D-2114-08	TCGA-HC-7744-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0192d529-7340-45d8-a5f0-249cbb11ca19	12e7e0e3-0619-4659-ac66-f999415ad396	g.chr3:14212034G>T	ENST00000285021.7	-	3	530	c.316C>A	c.(316-318)Ctc>Atc	p.L106I	XPC_ENST00000449060.2_Missense_Mutation_p.L106I	NM_001145769.1|NM_004628.4	NP_001139241.1|NP_004619.3	Q01831	XPC_HUMAN	xeroderma pigmentosum, complementation group C	106	Glu-rich (acidic).				DNA repair (GO:0006281)|intra-S DNA damage checkpoint (GO:0031573)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage recognition (GO:0000715)|nucleotide-excision repair, DNA damage removal (GO:0000718)|regulation of mitotic cell cycle phase transition (GO:1901990)|response to drug (GO:0042493)|response to UV-B (GO:0010224)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|XPC complex (GO:0071942)	bubble DNA binding (GO:0000405)|damaged DNA binding (GO:0003684)|heteroduplex DNA loop binding (GO:0000404)|single-stranded DNA binding (GO:0003697)			NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						GCCTTCTTGAGGTCACTTGGA	0.428			"Mis, N, F, S"			"skin basal cell, skin squamous cell, melanoma"		Nucleotide excision repair (NER)	Xeroderma Pigmentosum																													ENST00000285021.7			yes	Rec		Xeroderma pigmentosum (C)	3	3p25	7508	"Mis, N, F, S"	"xeroderma pigmentosum, complementation group C"			E		"skin basal cell, skin squamous cell, melanoma"			0				NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						c.(316-318)Ctc>Atc	Nucleotide excision repair (NER)	xeroderma pigmentosum, complementation group C							254	236	241					3																	14212034		1894	4124	6018	SO:0001583	missense	7508	Xeroderma Pigmentosum	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV	nucleotide-excision repair, DNA damage recognition|nucleotide-excision repair, DNA damage removal	cytoplasm|nucleoplasm|XPC complex	bubble DNA binding|damaged DNA binding|loop DNA binding|protein binding|single-stranded DNA binding	g.chr3:14212034G>T		CCDS46763.1	3p25.1	2014-09-17			ENSG00000154767	ENSG00000154767			12816	protein-coding gene	gene with protein product	"xeroderma pigmentosum group C protein"	613208				1522891	Standard	NM_004628		Approved	XPCC, RAD4	uc011ave.2	Q01831	OTTHUMG00000155526	ENST00000285021.7:c.316C>A	3.37:g.14212034G>T	ENSP00000285021:p.Leu106Ile					XPC_ENST00000449060.2_Missense_Mutation_p.L106I	p.L106I	NM_001145769.1|NM_004628.4	NP_001139241.1|NP_004619.3	Q01831	XPC_HUMAN			3	530	-			106			Glu-rich (acidic).		B4DIP3|E9PB96|E9PH69|Q53GT7|Q96AX0	Missense_Mutation	SNP	ENST00000285021.7	37	c.316C>A	CCDS46763.1	.	.	.	.	.	.	.	.	.	.	G	13.30	2.196055	0.38806	.	.	ENSG00000154767	ENST00000285021;ENST00000449060;ENST00000511155	T;T;T	0.63096	-0.02;-0.02;-0.02	5.65	0.186	0.15105	.	2.004470	0.02006	N	0.046631	T	0.35740	0.0942	N	0.08118	0	0.09310	N	1	B;P	0.34462	0.148;0.454	B;B	0.22152	0.038;0.037	T	0.24297	-1.0164	10	0.20519	T	0.43	0.4934	5.1062	0.14785	0.36:0.1417:0.4983:0.0	.	106;106	E9PH69;Q01831	.;XPC_HUMAN	I	106;106;100	ENSP00000285021:L106I;ENSP00000404002:L106I;ENSP00000423867:L100I	ENSP00000285021:L106I	L	-	1	0	XPC	14187038	0.000000	0.05858	0.000000	0.03702	0.018000	0.09664	-0.080000	0.11339	0.241000	0.21283	0.650000	0.86243	CTC		0.428	XPC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000340517.3	NM_004628		6	130	1	0	0.000157383	1	0.00016949	6	130					T	14212034	G	T	14212034	3	4	215	1	0	0	0	0	1	0	0	0	17438	1000	35	5	1511	5	XPC	3	14212034	Missense_Mutation	SNP	G	TCGA-HC-7744-01A-11D-2114-08		14212034	183810396	13	9883											
SLC7A14	57709	broad.mit.edu	37	chr3	170218996	170218996	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcagagcactggctccggccGcagtgccaatcaggtactcc	8	7	11	15	2	2	1	2	0	0	1	4	1	4	1	4	3	3	4	4	3	2	1			TCGA-HC-7744-01A-11D-2114-08	TCGA-HC-7744-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0192d529-7340-45d8-a5f0-249cbb11ca19	12e7e0e3-0619-4659-ac66-f999415ad396	g.chr3:170218996G>A	ENST00000231706.5	-	3	758	c.443C>T	c.(442-444)gCg>gTg	p.A148V	CLDN11_ENST00000486975.1_Intron|CLDN11_ENST00000451576.1_Intron	NM_020949.2	NP_066000.2	Q8TBB6	S7A14_HUMAN	solute carrier family 7, member 14	148					negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)|lysosome (GO:0005764)	amino acid transmembrane transporter activity (GO:0015171)			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(23)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(4)	53	all_cancers(22;2.41e-22)|all_epithelial(15;4.2e-27)|all_lung(20;1.17e-16)|Lung NSC(18;4.91e-16)|Ovarian(172;0.000902)|Breast(254;0.137)		Lung(28;6.23e-13)|LUSC - Lung squamous cell carcinoma(14;1.48e-12)			GGCTCCGGCCGCAGTGCCAAT	0.557																																						ENST00000231706.4																			0				central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(23)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(4)	53						c.(442-444)gCg>gTg		solute carrier family 7, member 14							71	64	66					3																	170218996		2203	4300	6503	SO:0001583	missense	57709					integral to membrane	amino acid transmembrane transporter activity	g.chr3:170218996G>A	BC022968	CCDS33892.1	3q26.2	2014-06-13	2013-07-19		ENSG00000013293	ENSG00000013293		"Solute carriers"	29326	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 142"	615720					Standard	NM_020949		Approved	KIAA1613, PPP1R142	uc003fgz.2	Q8TBB6	OTTHUMG00000158941	ENST00000231706.5:c.443C>T	3.37:g.170218996G>A	ENSP00000231706:p.Ala148Val					CLDN11_ENST00000451576.1_Intron|CLDN11_ENST00000486975.1_Intron	p.A148V	NM_020949.2	NP_066000.2	Q8TBB6	S7A14_HUMAN	Lung(28;6.23e-13)|LUSC - Lung squamous cell carcinoma(14;1.48e-12)		3	758	-	all_cancers(22;2.41e-22)|all_epithelial(15;4.2e-27)|all_lung(20;1.17e-16)|Lung NSC(18;4.91e-16)|Ovarian(172;0.000902)|Breast(254;0.137)		148					B3KV33|Q9HCF9	Missense_Mutation	SNP	ENST00000231706.5	37	c.443C>T	CCDS33892.1	.	.	.	.	.	.	.	.	.	.	G	36	5.609618	0.96637	.	.	ENSG00000013293	ENST00000231706	D	0.90133	-2.62	5.26	5.26	0.73747	Amino acid permease domain (1);	0.000000	0.85682	D	0.000000	D	0.95787	0.8629	M	0.84156	2.68	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.96096	0.9065	10	0.87932	D	0	.	19.2201	0.93793	0.0:0.0:1.0:0.0	.	148	Q8TBB6	S7A14_HUMAN	V	148	ENSP00000231706:A148V	ENSP00000231706:A148V	A	-	2	0	SLC7A14	171701690	1.000000	0.71417	0.994000	0.49952	0.985000	0.73830	9.779000	0.99018	2.609000	0.88269	0.561000	0.74099	GCG		0.557	SLC7A14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352598.2	NM_020949		3	45	0	0	0	1	0	3	45					A	170218996	G	A	170218996	3	1	215	1	0	0	0	0	1	0	0	0	14696	1087	38	1	1896	1	SLC7A14	3	170218996	Missense_Mutation	SNP	G	TCGA-HC-7744-01A-11D-2114-08	156006962	170218996	27803434	14	9884											
SEL1L3	23231	broad.mit.edu	37	chr4	25785893	25785893	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gctctaaggcaagccgtctgTtcttttttactccttgaccc	6	15	7	13	1	3	1	0	1	3	0	4	1	4	1	3	1	2	3	3	1	3	6			TCGA-HC-7744-01A-11D-2114-08	TCGA-HC-7744-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0192d529-7340-45d8-a5f0-249cbb11ca19	12e7e0e3-0619-4659-ac66-f999415ad396	g.chr4:25785893T>C	ENST00000399878.3	-	14	2359	c.2237A>G	c.(2236-2238)aAc>aGc	p.N746S	SEL1L3_ENST00000502949.1_Missense_Mutation_p.N593S|SEL1L3_ENST00000264868.5_Missense_Mutation_p.N711S	NM_015187.3	NP_056002.2	Q68CR1	SE1L3_HUMAN	sel-1 suppressor of lin-12-like 3 (C. elegans)	746						integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(2)	14						AAGCCGTCTGTTCTTTTTTAC	0.418																																						ENST00000399878.3																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(2)	14						c.(2236-2238)aAc>aGc		sel-1 suppressor of lin-12-like 3 (C. elegans)							235	229	231					4																	25785893		1972	4148	6120	SO:0001583	missense	23231					integral to membrane	binding	g.chr4:25785893T>C	BC009945	CCDS47037.1, CCDS75113.1	4p15.2	2009-09-24			ENSG00000091490	ENSG00000091490			29108	protein-coding gene	gene with protein product	"KIAA0746 protein"					9872452	Standard	XM_005248143		Approved	KIAA0746	uc003gru.4	Q68CR1	OTTHUMG00000160331	ENST00000399878.3:c.2237A>G	4.37:g.25785893T>C	ENSP00000382767:p.Asn746Ser					SEL1L3_ENST00000502949.1_Missense_Mutation_p.N593S|SEL1L3_ENST00000264868.5_Missense_Mutation_p.N711S	p.N746S	NM_015187.3	NP_056002.2	Q68CR1	SE1L3_HUMAN			14	2359	-			746					A0PJH6|A8K0X2|O94847|Q6P999|Q96G59	Missense_Mutation	SNP	ENST00000399878.3	37	c.2237A>G	CCDS47037.1	.	.	.	.	.	.	.	.	.	.	T	20.2	3.941972	0.73557	.	.	ENSG00000091490	ENST00000399878;ENST00000264868;ENST00000502949	T;T;T	0.54675	0.56;0.56;0.56	5.58	5.58	0.84498	Tetratricopeptide-like helical (1);	0.048441	0.85682	D	0.000000	T	0.58779	0.2146	N	0.19112	0.55	0.43073	D	0.994718	D;D	0.76494	0.995;0.999	P;D	0.72625	0.86;0.978	T	0.63945	-0.6522	10	0.56958	D	0.05	-27.3311	15.4199	0.75003	0.0:0.0:0.0:1.0	.	153;746	B4DTH5;Q68CR1	.;SE1L3_HUMAN	S	746;711;593	ENSP00000382767:N746S;ENSP00000264868:N711S;ENSP00000425438:N593S	ENSP00000264868:N711S	N	-	2	0	SEL1L3	25394991	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	5.552000	0.67281	2.136000	0.66102	0.454000	0.30748	AAC		0.418	SEL1L3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360261.1	NM_015187		8	156	0	0	0	1	0	8	156					C	25785893	T	C	25785893	3	2	215	1	0	0	0	0	1	0	0	0	14012	1725	60	4	1205	4	SEL1L3	4	25785893	Missense_Mutation	SNP	T	TCGA-HC-7744-01A-11D-2114-08		25785893	165368383	15	9885											
RNASEN	29102	broad.mit.edu	37	chr5	31526205	31526205	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctgctccgttcgtagctgcGgtggcgagatggtgttctcc	3	12	14	12	4	1	1	0	0	1	1	4	2	2	1	3	3	3	5	3	3	1	3	rs201276010		TCGA-HC-7744-01A-11D-2114-08	TCGA-HC-7744-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0192d529-7340-45d8-a5f0-249cbb11ca19	12e7e0e3-0619-4659-ac66-f999415ad396	g.chr5:31526205G>A	ENST00000511367.2	-	4	1079	c.835C>T	c.(835-837)Cgc>Tgc	p.R279C	DROSHA_ENST00000504361.1_5'Flank|DROSHA_ENST00000442743.1_Missense_Mutation_p.R279C|DROSHA_ENST00000344624.3_Missense_Mutation_p.R279C|DROSHA_ENST00000513349.1_Missense_Mutation_p.R279C	NM_013235.4	NP_037367.3	Q9NRR4	RNC_HUMAN	drosha, ribonuclease type III	279	Arg-rich.				defense response to Gram-negative bacterium (GO:0050829)|defense response to Gram-positive bacterium (GO:0050830)|gene expression (GO:0010467)|miRNA metabolic process (GO:0010586)|pre-miRNA processing (GO:0031054)|primary miRNA processing (GO:0031053)|ribosome biogenesis (GO:0042254)|RNA phosphodiester bond hydrolysis (GO:0090501)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|rRNA catabolic process (GO:0016075)	nucleoplasm (GO:0005654)	lipopolysaccharide binding (GO:0001530)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|ribonuclease III activity (GO:0004525)	p.R279C(1)		breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(19)|lung(33)|ovary(2)|skin(1)	66						TCGTAGCTGCGGTGGCGAGAT	0.547																																						ENST00000511367.2																			1	Substitution - Missense(1)	p.R279C(1)	endometrium(1)	breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(19)|lung(33)|ovary(2)|skin(1)	66						c.(835-837)Cgc>Tgc		drosha, ribonuclease type III		G	CYS/ARG,CYS/ARG	2,4214		0,2,2106	92	94	93		835,835	2.7	1	5		93	10,8408		0,10,4199	yes	missense,missense	DROSHA	NM_001100412.1,NM_013235.4	180,180	0,12,6305	AA,AG,GG		0.1188,0.0474,0.095	possibly-damaging,possibly-damaging	279/1338,279/1375	31526205	12,12622	2108	4209	6317	SO:0001583	missense	29102				gene silencing by RNA|ribosome biogenesis|RNA processing	nucleolus|nucleoplasm	double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity	g.chr5:31526205G>A	AF116910	CCDS47194.1, CCDS47195.1	5q11.2	2010-11-17	2010-10-28	2010-10-28	ENSG00000113360	ENSG00000113360	3.1.26.3		17904	protein-coding gene	gene with protein product	"drosha, ribonuclease type III", "drosha, double-stranded RNA-specific endoribonuclease"	608828	"ribonuclease type III, nuclear"	RNASEN		10713462, 10948199	Standard	NM_013235		Approved	RNASE3L, Etohi2, HSA242976, RN3	uc003jhg.2	Q9NRR4	OTTHUMG00000161976	ENST00000511367.2:c.835C>T	5.37:g.31526205G>A	ENSP00000425979:p.Arg279Cys					DROSHA_ENST00000513349.1_Missense_Mutation_p.R279C|DROSHA_ENST00000344624.3_Missense_Mutation_p.R279C|DROSHA_ENST00000442743.1_Missense_Mutation_p.R279C	p.R279C	NM_013235.4	NP_037367.3	Q9NRR4	RNC_HUMAN			4	1079	-			279			Arg-rich.		E7EMP9|Q7Z5V2|Q86YH0|Q9NW73|Q9Y2V9|Q9Y4Y0	Missense_Mutation	SNP	ENST00000511367.2	37	c.835C>T	CCDS47195.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.01|13.01	2.109684|2.109684	0.37242|0.37242	4.74E-4|4.74E-4	0.001188|0.001188	ENSG00000113360|ENSG00000113360	ENST00000512076|ENST00000511367;ENST00000344624;ENST00000442743;ENST00000513349;ENST00000265075;ENST00000382188;ENST00000512302	.|T;T;T;T;T	.|0.58210	.|1.21;1.21;0.74;0.74;0.35	4.55|4.55	2.73|2.73	0.32206|0.32206	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.50411|0.50411	0.1614|0.1614	N|N	0.19112|0.19112	0.55|0.55	0.58432|0.58432	D|D	0.999997|0.999997	.|D;D;D	.|0.76494	.|0.999;0.997;0.997	.|P;B;B	.|0.56343	.|0.796;0.446;0.446	T|T	0.54603|0.54603	-0.8269|-0.8269	5|10	.|0.87932	.|D	.|0	-12.0872|-12.0872	12.8912|12.8912	0.58071|0.58071	0.0:0.0:0.5054:0.4946|0.0:0.0:0.5054:0.4946	.|.	.|279;279;279	.|Q9NRR4-2;E7EMP9;Q9NRR4	.|.;.;RNC_HUMAN	L|C	108|279;279;279;279;272;272;77	.|ENSP00000425979:R279C;ENSP00000339845:R279C;ENSP00000409335:R279C;ENSP00000424161:R279C;ENSP00000428782:R77C	.|ENSP00000265075:R272C	P|R	-|-	2|1	0|0	DROSHA|DROSHA	31561962|31561962	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.962000|0.962000	0.63368|0.63368	1.553000|1.553000	0.36255|0.36255	0.518000|0.518000	0.28383|0.28383	0.650000|0.650000	0.86243|0.86243	CCG|CGC		0.547	DROSHA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366561.3	NM_013235		10	90	0	0	0	1	0	10	90					A	31526205	G	A	31526205	3	1	215	1	0	0	0	0	1	0	0	0	13417	1116	39	2	3417	2	RNASEN	5	31526205	Missense_Mutation	SNP	G	TCGA-HC-7744-01A-11D-2114-08		31526205	149389055	16	9886											
SLC12A2	6558	broad.mit.edu	37	chr5	127419938	127419955	+	In_Frame_Del	DEL	GCGGCGGCGGCGGCGGCA	GCGGCGGCGGCGGCGGCA	-																															ggcgggccgctgctgcggcgGcggcggcggcggcggcagcg																								rs181849063|rs560532409	byFrequency	TCGA-HC-7744-01A-11D-2114-08	TCGA-HC-7744-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0192d529-7340-45d8-a5f0-249cbb11ca19	12e7e0e3-0619-4659-ac66-f999415ad396	g.chr5:127419938_127419955delGCGGCGGCGGCGGCGGCA	ENST00000262461.2	+	1	481_498	c.292_309delGCGGCGGCGGCGGCGGCA	c.(292-309)gcggcggcggcggcggcadel	p.AAAAAA98del	CTC-228N24.3_ENST00000501702.2_lincRNA|SLC12A2_ENST00000343225.4_In_Frame_Del_p.AAAAAA98del	NM_001046.2	NP_001037.1	P55011	S12A2_HUMAN	solute carrier family 12 (sodium/potassium/chloride transporter), member 2	98	Ala-rich.				ammonium transmembrane transport (GO:0072488)|ammonium transport (GO:0015696)|branching involved in mammary gland duct morphogenesis (GO:0060444)|chloride transmembrane transport (GO:1902476)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|gamma-aminobutyric acid signaling pathway (GO:0007214)|hyperosmotic response (GO:0006972)|ion transport (GO:0006811)|mammary duct terminal end bud growth (GO:0060763)|multicellular organism growth (GO:0035264)|positive regulation of cell volume (GO:0045795)|potassium ion transport (GO:0006813)|sodium ion transport (GO:0006814)|transepithelial ammonium transport (GO:0070634)|transepithelial chloride transport (GO:0030321)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	ammonium transmembrane transporter activity (GO:0008519)|sodium:potassium:chloride symporter activity (GO:0008511)			breast(3)|endometrium(5)|kidney(5)|large_intestine(12)|lung(16)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48		all_cancers(142;0.0972)|Prostate(80;0.151)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	Epithelial(69;0.0433)|OV - Ovarian serous cystadenocarcinoma(64;0.0978)	Bumetanide(DB00887)|Potassium Chloride(DB00761)|Quinethazone(DB01325)	TGCTgcggcggcggcggcggcggcggcagcggcggcgg	0.771																																						ENST00000262461.2																			0				breast(3)|endometrium(5)|kidney(5)|large_intestine(12)|lung(16)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						c.(292-309)del		solute carrier family 12 (sodium/potassium/chloride transporter), member 2	Bumetanide(DB00887)|Potassium Chloride(DB00761)			17,429		8,1,214						1.7	0.7			1	60,1308		28,4,652	no	coding	SLC12A2	NM_001046.2		36,5,866	A1A1,A1R,RR		4.386,3.8117,4.2448				77,1737				SO:0001651	inframe_deletion	6558				potassium ion transport|sodium ion transport|transepithelial ammonium transport|transepithelial chloride transport	integral to plasma membrane|membrane fraction	ammonia transmembrane transporter activity|sodium:potassium:chloride symporter activity	g.chr5:127419938_127419955delGCGGCGGCGGCGGCGGCA		CCDS4144.1, CCDS58965.1	5q23.3	2014-06-13	2013-07-18		ENSG00000064651	ENSG00000064651		"Solute carriers"	10911	protein-coding gene	gene with protein product	"bumetanide-sensitive sodium-(potassium)-chloride cotransporter 1", "basolateral Na-K-Cl symporter", "protein phosphatase 1, regulatory subunit 141"	600840				7629105	Standard	NM_001256461		Approved	NKCC1, BSC, BSC2, PPP1R141	uc003kus.3	P55011	OTTHUMG00000128983	ENST00000262461.2:c.292_309delGCGGCGGCGGCGGCGGCA	5.37:g.127419938_127419955delGCGGCGGCGGCGGCGGCA	ENSP00000262461:p.Ala98_Ala103del					SLC12A2_ENST00000343225.4_In_Frame_Del_p.AAAAAA98del	p.AAAAAA98del	NM_001046.2	NP_001037.1	P55011	S12A2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	Epithelial(69;0.0433)|OV - Ovarian serous cystadenocarcinoma(64;0.0978)	1	481_498	+		all_cancers(142;0.0972)|Prostate(80;0.151)	98			Ala-rich.		Q8N713|Q8WWH7	In_Frame_Del	DEL	ENST00000262461.2	37	c.292_309delGCGGCGGCGGCGGCGGCA	CCDS4144.1																																																																																				0.771	SLC12A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250972.1	NM_001046		8	3						8	3	---	---	---	---	-	127419955	GCGGCGGCGGCGGCGGCA	-	127419938	7	5	215	1	0	1	0	1	0	0	0	0	14383	1203	42	0	294	0	SLC12A2	5	127419938	In_Frame_Del	DEL	GCGGCGGCGGCGGCGGCA	TCGA-HC-7744-01A-11D-2114-08	95893733	127419938	53495322	17	9887											
FBN2	2201	broad.mit.edu	37	chr5	127800512	127800512	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	agggatggccccacgcccgtCcaatggtggcacagcacaga	10	4	13	14	2	0	1	0	0	0	1	1	2	1	2	4	4	1	2	4	4	1	0			TCGA-HC-7744-01A-11D-2114-08	TCGA-HC-7744-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0192d529-7340-45d8-a5f0-249cbb11ca19	12e7e0e3-0619-4659-ac66-f999415ad396	g.chr5:127800512C>A	ENST00000508053.1	-	12	1705	c.731G>T	c.(730-732)gGa>gTa	p.G244V	FBN2_ENST00000508989.1_Missense_Mutation_p.G211V|FBN2_ENST00000262464.4_Missense_Mutation_p.G244V			P35556	FBN2_HUMAN	fibrillin 2	244	TB 1.				anatomical structure morphogenesis (GO:0009653)|bone trabecula formation (GO:0060346)|embryonic limb morphogenesis (GO:0030326)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|sequestering of TGFbeta in extracellular matrix (GO:0035583)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		CCACGCCCGTCCAATGGTGGC	0.602																																						ENST00000508053.1																			0				NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197						c.(730-732)gGa>gTa		fibrillin 2							89	83	85					5																	127800512		2203	4300	6503	SO:0001583	missense	2201				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent	g.chr5:127800512C>A	U03272	CCDS34222.1	5q23-q31	2008-08-01	2008-08-01			ENSG00000138829			3604	protein-coding gene	gene with protein product	"fibrillin 5"	612570	"congenital contractural arachnodactyly"	CCA		1852206, 8120105	Standard	NM_001999		Approved	DA9	uc003kuu.3	P35556		ENST00000508053.1:c.731G>T	5.37:g.127800512C>A	ENSP00000424571:p.Gly244Val					FBN2_ENST00000262464.4_Missense_Mutation_p.G244V|FBN2_ENST00000508989.1_Missense_Mutation_p.G211V	p.G244V			P35556	FBN2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)	12	1705	-		all_cancers(142;0.0216)|Prostate(80;0.0551)	244			TB 1.		B4DU01|Q59ES6	Missense_Mutation	SNP	ENST00000508053.1	37	c.731G>T	CCDS34222.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.416887	0.83449	.	.	ENSG00000138829	ENST00000262464;ENST00000508053;ENST00000508989;ENST00000502468	D;D;D;D	0.96104	-3.91;-3.91;-3.91;-3.91	4.82	4.82	0.62117	Matrix fibril-associated (3);TGF-beta binding (1);	0.000000	0.64402	D	0.000003	D	0.97451	0.9166	M	0.72894	2.215	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;0.998;1.0;1.0	D	0.98068	1.0397	10	0.87932	D	0	.	18.7725	0.91898	0.0:1.0:0.0:0.0	.	211;244;211;244	P35556-2;E9PHW4;D6RJI3;P35556	.;.;.;FBN2_HUMAN	V	244;244;211;244	ENSP00000262464:G244V;ENSP00000424571:G244V;ENSP00000425596:G211V;ENSP00000424753:G244V	ENSP00000262464:G244V	G	-	2	0	FBN2	127828411	1.000000	0.71417	0.950000	0.38849	0.725000	0.41563	7.729000	0.84864	2.608000	0.88229	0.484000	0.47621	GGA		0.602	FBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371618.2	NM_001999		46	56	1	0	5.78141e-17	1	6.34822e-17	46	56					A	127800512	C	A	127800512	3	1	215	1	0	0	0	0	1	0	0	0	5703	855	30	5	8247	5	FBN2	5	127800512	Missense_Mutation	SNP	C	TCGA-HC-7744-01A-11D-2114-08	380574	127800512	53114748	18	9888											
PSD2	84249	broad.mit.edu	37	chr5	139193322	139193322	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgatgatgaggaggacacggAcaagttgctgaactcagcca	13	7	13	8	1	1	4	1	4	0	0	1	7	1	7	1	3	3	2	1	3	2	1			TCGA-HC-7744-01A-11D-2114-08	TCGA-HC-7744-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0192d529-7340-45d8-a5f0-249cbb11ca19	12e7e0e3-0619-4659-ac66-f999415ad396	g.chr5:139193322A>C	ENST00000274710.3	+	3	1005	c.800A>C	c.(799-801)gAc>gCc	p.D267A		NM_032289.2	NP_115665.1	Q9BQI7	PSD2_HUMAN	pleckstrin and Sec7 domain containing 2	267	SEC7. {ECO:0000255|PROSITE- ProRule:PRU00189}.				neuron differentiation (GO:0030182)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|phospholipid binding (GO:0005543)			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(10)|liver(2)|lung(15)|ovary(1)|prostate(2)	38			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAGGACACGGACAAGTTGCTG	0.607																																						ENST00000274710.3																			0				breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(10)|liver(2)|lung(15)|ovary(1)|prostate(2)	38						c.(799-801)gAc>gCc		pleckstrin and Sec7 domain containing 2							22	19	20					5																	139193322		2151	4224	6375	SO:0001583	missense	84249				regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity	g.chr5:139193322A>C	AL136559	CCDS4216.1	5q31.3	2013-01-10			ENSG00000146005	ENSG00000146005		"Pleckstrin homology (PH) domain containing"	19092	protein-coding gene	gene with protein product							Standard	NM_032289		Approved	DKFZp761B0514	uc003leu.1	Q9BQI7	OTTHUMG00000129240	ENST00000274710.3:c.800A>C	5.37:g.139193322A>C	ENSP00000274710:p.Asp267Ala						p.D267A	NM_032289.2	NP_115665.1	Q9BQI7	PSD2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		3	1005	+			267			SEC7.		D3DQD3|Q8N3J8	Missense_Mutation	SNP	ENST00000274710.3	37	c.800A>C	CCDS4216.1	.	.	.	.	.	.	.	.	.	.	A	10.17	1.277738	0.23307	.	.	ENSG00000146005	ENST00000274710	T	0.11604	2.76	4.61	3.4	0.38934	.	0.627974	0.16060	N	0.231511	T	0.07458	0.0188	L	0.36672	1.1	0.26997	N	0.964996	B	0.20368	0.044	B	0.21708	0.036	T	0.37641	-0.9697	10	0.05351	T	0.99	.	8.9106	0.35550	0.6303:0.3697:0.0:0.0	.	267	Q9BQI7	PSD2_HUMAN	A	267	ENSP00000274710:D267A	ENSP00000274710:D267A	D	+	2	0	PSD2	139173506	0.942000	0.31987	0.993000	0.49108	0.917000	0.54804	2.156000	0.42310	1.832000	0.53329	0.460000	0.39030	GAC		0.607	PSD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251339.1	NM_032289		7	14	0	0	0	1	0	7	14					C	139193322	A	C	139193322	3	2	215	1	0	0	0	0	1	0	0	0	12647	275	10	5	806	5	PSD2	5	139193322	Missense_Mutation	SNP	A	TCGA-HC-7744-01A-11D-2114-08	11392810	139193322	41721938	19	9889											
GRXCR2	643226	broad.mit.edu	37	chr5	145252483	145252483	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gattttaaatcgtactttccGgggtttgccatcactcttct	7	17	7	10	2	3	0	1	0	2	0	5	1	4	0	2	2	2	2	2	2	3	6	rs376301264		TCGA-HC-7744-01A-11D-2114-08	TCGA-HC-7744-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0192d529-7340-45d8-a5f0-249cbb11ca19	12e7e0e3-0619-4659-ac66-f999415ad396	g.chr5:145252483G>A	ENST00000377976.1	-	1	48	c.49C>T	c.(49-51)Cgg>Tgg	p.R17W		NM_001080516.1	NP_001073985.1	A6NFK2	GRCR2_HUMAN	glutaredoxin, cysteine rich 2	17						cell projection (GO:0042995)				breast(1)|endometrium(1)|large_intestine(2)|lung(1)|urinary_tract(2)	7						CGTACTTTCCGGGGTTTGCCA	0.502																																						ENST00000377976.1																			0				breast(1)|endometrium(1)|large_intestine(2)|lung(1)|urinary_tract(2)	7						c.(49-51)Cgg>Tgg		glutaredoxin, cysteine rich 2		G	TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	116	114	115		49	3.6	1	5		115	0,8600		0,0,4300	no	missense	GRXCR2	NM_001080516.1	101	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	17/249	145252483	1,13005	2203	4300	6503	SO:0001583	missense	643226							g.chr5:145252483G>A		CCDS34263.1	5q32	2014-03-14			ENSG00000204928	ENSG00000204928			33862	protein-coding gene	gene with protein product		615762				24619944	Standard	NM_001080516		Approved	DFNB101	uc003lns.1	A6NFK2	OTTHUMG00000163417	ENST00000377976.1:c.49C>T	5.37:g.145252483G>A	ENSP00000367214:p.Arg17Trp						p.R17W	NM_001080516.1	NP_001073985.1	A6NFK2	GRCR2_HUMAN			1	48	-			17						Missense_Mutation	SNP	ENST00000377976.1	37	c.49C>T	CCDS34263.1	.	.	.	.	.	.	.	.	.	.	G	14.10	2.434010	0.43224	2.27E-4	0.0	ENSG00000204928	ENST00000377976	T	0.66099	-0.19	5.51	3.57	0.40892	.	0.049912	0.85682	D	0.000000	T	0.76428	0.3986	M	0.72894	2.215	0.45354	D	0.998349	D	0.89917	1.0	D	0.74674	0.984	T	0.80146	-0.1504	10	0.87932	D	0	-17.1985	13.9232	0.63945	0.0:0.0:0.7192:0.2807	.	17	A6NFK2	GRCR2_HUMAN	W	17	ENSP00000367214:R17W	ENSP00000367214:R17W	R	-	1	2	GRXCR2	145232676	1.000000	0.71417	1.000000	0.80357	0.299000	0.27559	1.846000	0.39289	1.389000	0.46526	0.655000	0.94253	CGG		0.502	GRXCR2-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373289.2			46	71	0	0	0	1	0	46	71					A	145252483	G	A	145252483	3	1	215	1	0	0	0	0	1	0	0	0	6813	1115	39	2	709	2	GRXCR2	5	145252483	Missense_Mutation	SNP	G	TCGA-HC-7744-01A-11D-2114-08	6059161	145252483	35662777	20	9890											
CDHR2	54825	broad.mit.edu	37	chr5	176011821	176011821	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccagctggagatacagcttGtgaacattctctgcaccaag	11	9	9	12	0	1	2	0	1	1	1	2	3	1	2	2	1	5	3	2	1	3	3	rs554321529		TCGA-HC-7744-01A-11D-2114-08	TCGA-HC-7744-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0192d529-7340-45d8-a5f0-249cbb11ca19	12e7e0e3-0619-4659-ac66-f999415ad396	g.chr5:176011821G>T	ENST00000510636.1	+	19	2813	c.2539G>T	c.(2539-2541)Gtg>Ttg	p.V847L	CDHR2_ENST00000261944.5_Missense_Mutation_p.V847L|CDHR2_ENST00000506348.1_Missense_Mutation_p.V847L	NM_001171976.1	NP_001165447.1	Q9BYE9	CDHR2_HUMAN	cadherin-related family member 2	847	Cadherin 8. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|negative regulation of cell growth (GO:0030308)	cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1)	56						GATACAGCTTGTGAACATTCT	0.612																																						ENST00000510636.1																			0				breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1)	56						c.(2539-2541)Gtg>Ttg		cadherin-related family member 2							108	92	97					5																	176011821		2203	4300	6503	SO:0001583	missense	54825				homophilic cell adhesion|negative regulation of cell growth	apical plasma membrane|cell junction|integral to membrane	calcium ion binding|protein binding	g.chr5:176011821G>T	AB047004	CCDS34297.1	5q35.2	2011-07-01	2010-01-25	2010-01-25		ENSG00000074276		"Cadherins / Cadherin-related"	18231	protein-coding gene	gene with protein product	"protocadherin LKC"		"protocadherin 24"	PCDH24		11082270, 12117771	Standard	NM_001171976		Approved	PC-LKC, FLJ20124, FLJ20383, PCLKC	uc003mem.2	Q9BYE9		ENST00000510636.1:c.2539G>T	5.37:g.176011821G>T	ENSP00000424565:p.Val847Leu					CDHR2_ENST00000261944.5_Missense_Mutation_p.V847L|CDHR2_ENST00000506348.1_Missense_Mutation_p.V847L	p.V847L	NM_001171976.1	NP_001165447.1	Q9BYE9	CDHR2_HUMAN			19	2813	+			847			Cadherin 8.		A1L3U4|A6NC80|Q9NXP8	Missense_Mutation	SNP	ENST00000510636.1	37	c.2539G>T	CCDS34297.1	.	.	.	.	.	.	.	.	.	.	G	0.168	-1.074624	0.01903	.	.	ENSG00000074276	ENST00000510636;ENST00000261944;ENST00000506348	T;T;T	0.55930	0.49;0.49;0.49	5.28	-0.828	0.10799	Cadherin (3);Cadherin-like (1);	.	.	.	.	T	0.24736	0.0600	N	0.11845	0.185	0.09310	N	1	B	0.06786	0.001	B	0.09377	0.004	T	0.20739	-1.0266	9	0.09843	T	0.71	-10.2882	3.1945	0.06629	0.3138:0.421:0.1716:0.0937	.	847	Q9BYE9	CDHR2_HUMAN	L	847	ENSP00000424565:V847L;ENSP00000261944:V847L;ENSP00000421078:V847L	ENSP00000261944:V847L	V	+	1	0	CDHR2	175944427	0.023000	0.18921	0.000000	0.03702	0.006000	0.05464	0.244000	0.18124	-0.130000	0.11599	-0.390000	0.06520	GTG		0.612	CDHR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372201.1	NM_017675		4	112	1	0	0.000602214	1	0.000636302	4	112					T	176011821	G	T	176011821	3	4	215	1	0	0	0	0	1	0	0	0	3119	1377	48	5	2609	5	CDHR2	5	176011821	Missense_Mutation	SNP	G	TCGA-HC-7744-01A-11D-2114-08	30759338	176011821	4903439	21	9891											
BAI3	577	broad.mit.edu	37	chr6	69349086	69349086	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggttgccatgtattatgtacTtggttggagagctgcttaaa	9	15	12	5	0	0	1	0	0	0	1	0	2	0	1	1	3	4	6	1	3	5	7			TCGA-HC-7744-01A-11D-2114-08	TCGA-HC-7744-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0192d529-7340-45d8-a5f0-249cbb11ca19	12e7e0e3-0619-4659-ac66-f999415ad396	g.chr6:69349086T>G	ENST00000370598.1	+	3	1340	c.519T>G	c.(517-519)acT>acG	p.T173T		NM_001704.2	NP_001695	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	173					G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				TATTATGTACTTGGTTGGAGA	0.413																																						ENST00000370598.1																			0				NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210						c.(517-519)acT>acG		brain-specific angiogenesis inhibitor 3							76	77	77					6																	69349086		2203	4300	6503	SO:0001819	synonymous_variant	577				negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr6:69349086T>G	AB005299	CCDS4968.1	6q12	2014-08-08			ENSG00000135298	ENSG00000135298		"-", "GPCR / Class B : Orphans"	945	protein-coding gene	gene with protein product		602684				9533023	Standard	NM_001704		Approved	KIAA0550	uc003pev.4	O60242	OTTHUMG00000014982	ENST00000370598.1:c.519T>G	6.37:g.69349086T>G							p.T173T	NM_001704.2	NP_001695.1	O60242	BAI3_HUMAN			3	1340	+		all_lung(197;0.212)	173					B7Z1K0|O60297|Q2NKN6|Q5VY37|Q9BX54	Silent	SNP	ENST00000370598.1	37	c.519T>G	CCDS4968.1																																																																																				0.413	BAI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041120.1			3	86	0	0	0	1	0	3	86					G	69349086	T	G	69349086	2	3	215	1	0	0	0	0	0	0	0	1	1300	1596	56	5		5	BAI3	6	69349086	Silent	SNP	T	TCGA-HC-7744-01A-11D-2114-08		69349086	101765981	22	9892											
PIK3CG	5294	broad.mit.edu	37	chr7	106508395	106508395	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctactggaaggccacgcaccGgagcccgggccagatccacc	9	3	12	17	3	0	1	0	0	0	1	1	3	1	3	6	4	2	1	6	4	2	1			TCGA-HC-7744-01A-11D-2114-08	TCGA-HC-7744-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0192d529-7340-45d8-a5f0-249cbb11ca19	12e7e0e3-0619-4659-ac66-f999415ad396	g.chr7:106508395G>A	ENST00000359195.3	+	2	699	c.389G>A	c.(388-390)cGg>cAg	p.R130Q	PIK3CG_ENST00000496166.1_Missense_Mutation_p.R130Q|PIK3CG_ENST00000440650.2_Missense_Mutation_p.R130Q	NM_001282427.1|NM_002649.2	NP_001269356.1|NP_002640.2	P48736	PK3CG_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma	130	PI3K-ABD. {ECO:0000255|PROSITE- ProRule:PRU00877}.				adaptive immune response (GO:0002250)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cytokine production (GO:0001816)|dendritic cell chemotaxis (GO:0002407)|endocytosis (GO:0006897)|G-protein coupled receptor signaling pathway (GO:0007186)|hepatocyte apoptotic process (GO:0097284)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|mast cell degranulation (GO:0043303)|natural killer cell chemotaxis (GO:0035747)|negative regulation of cardiac muscle contraction (GO:0055118)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of triglyceride catabolic process (GO:0010897)|neutrophil chemotaxis (GO:0030593)|neutrophil extravasation (GO:0072672)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of cell adhesion mediated by integrin (GO:0033628)|respiratory burst involved in defense response (GO:0002679)|secretory granule localization (GO:0032252)|small molecule metabolic process (GO:0044281)|T cell activation (GO:0042110)|T cell chemotaxis (GO:0010818)|T cell proliferation (GO:0042098)	1-phosphatidylinositol-4-phosphate 3-kinase, class IB complex (GO:0005944)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|mast cell granule (GO:0042629)|membrane (GO:0016020)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|ephrin receptor binding (GO:0046875)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						GCCACGCACCGGAGCCCGGGC	0.632																																						ENST00000359195.3																			0				breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						c.(388-390)cGg>cAg		phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma							19	21	20					7																	106508395		2203	4296	6499	SO:0001583	missense	5294				G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding	g.chr7:106508395G>A		CCDS5739.1	7q22	2012-07-13	2012-07-13		ENSG00000105851	ENSG00000105851	2.7.1.153		8978	protein-coding gene	gene with protein product		601232	"phosphoinositide-3-kinase, catalytic, gamma polypeptide"				Standard	XM_005250443		Approved		uc003vdw.3	P48736	OTTHUMG00000157641	ENST00000359195.3:c.389G>A	7.37:g.106508395G>A	ENSP00000352121:p.Arg130Gln					PIK3CG_ENST00000496166.1_Missense_Mutation_p.R130Q|PIK3CG_ENST00000440650.2_Missense_Mutation_p.R130Q	p.R130Q	NM_002649.2	NP_002640.2	P48736	PK3CG_HUMAN			2	699	+			130					A4D0Q6|Q8IV23|Q9BZC8	Missense_Mutation	SNP	ENST00000359195.3	37	c.389G>A	CCDS5739.1	.	.	.	.	.	.	.	.	.	.	G	8.871	0.949320	0.18356	.	.	ENSG00000105851	ENST00000440650;ENST00000496166;ENST00000359195	T;T;T	0.69306	-0.39;-0.39;-0.39	5.52	-2.2	0.06994	.	0.373486	0.30109	N	0.010382	T	0.36276	0.0961	N	0.08118	0	0.09310	N	0.999997	B	0.02656	0.0	B	0.01281	0.0	T	0.18429	-1.0337	10	0.21540	T	0.41	-10.5105	7.0116	0.24865	0.6635:0.0:0.1958:0.1408	.	130	P48736	PK3CG_HUMAN	Q	130	ENSP00000392258:R130Q;ENSP00000419260:R130Q;ENSP00000352121:R130Q	ENSP00000352121:R130Q	R	+	2	0	PIK3CG	106295631	0.001000	0.12720	0.605000	0.28930	0.778000	0.44026	0.989000	0.29629	-0.103000	0.12175	0.467000	0.42956	CGG		0.632	PIK3CG-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349294.1			3	33	0	0	0	1	0	3	33					A	106508395	G	A	106508395	3	1	215	1	0	0	0	0	1	0	0	0	11916	1116	39	2	391	2	PIK3CG	7	106508395	Missense_Mutation	SNP	G	TCGA-HC-7744-01A-11D-2114-08		106508395	52630268	23	9893											
TSTD2	158427	broad.mit.edu	37	chr9	100388075	100388075	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcatctgcagacgaaagacTctttgaggtgctcaatgtca	11	12	9	9	1	5	3	3	1	2	2	5	4	5	3	0	1	2	2	0	1	2	2			TCGA-HC-7744-01A-11D-2114-08	TCGA-HC-7744-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0192d529-7340-45d8-a5f0-249cbb11ca19	12e7e0e3-0619-4659-ac66-f999415ad396	g.chr9:100388075T>C	ENST00000341170.4	-	3	752	c.370A>G	c.(370-372)Agt>Ggt	p.S124G	TSTD2_ENST00000354801.2_5'UTR	NM_139246.4	NP_640339.4	Q5T7W7	TSTD2_HUMAN	thiosulfate sulfurtransferase (rhodanese)-like domain containing 2	124										large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	15						GACGAAAGACTCTTTGAGGTG	0.438																																						ENST00000341170.4																			0				large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	15						c.(370-372)Agt>Ggt		thiosulfate sulfurtransferase (rhodanese)-like domain containing 2							164	161	162					9																	100388075		2203	4300	6503	SO:0001583	missense	158427							g.chr9:100388075T>C	AF258575	CCDS6727.2	9q22.33	2013-09-20	2009-08-12	2009-08-12	ENSG00000136925	ENSG00000136925			30087	protein-coding gene	gene with protein product			"chromosome 9 open reading frame 97"	C9orf97		12477932	Standard	NM_139246		Approved	PP4189	uc004axn.3	Q5T7W7	OTTHUMG00000020328	ENST00000341170.4:c.370A>G	9.37:g.100388075T>C	ENSP00000342499:p.Ser124Gly					TSTD2_ENST00000375165.1_5'UTR|TSTD2_ENST00000354801.2_5'UTR|TSTD2_ENST00000375172.2_5'UTR	p.S124G	NM_139246.4	NP_640339.4	Q5T7W7	TSTD2_HUMAN			3	752	-			124					A6NMJ4|A8K584|Q6ZQZ6|Q8IYM3|Q8WY73|Q96ML6|Q96MU1	Missense_Mutation	SNP	ENST00000341170.4	37	c.370A>G	CCDS6727.2	.	.	.	.	.	.	.	.	.	.	T	14.79	2.639869	0.47153	.	.	ENSG00000136925	ENST00000341170	T	0.32753	1.44	4.82	2.34	0.29019	.	0.636171	0.16823	N	0.198078	T	0.27798	0.0684	L	0.57536	1.79	0.24756	N	0.992957	B	0.06786	0.001	B	0.04013	0.001	T	0.19386	-1.0307	10	0.28530	T	0.3	-1.0552	9.8635	0.41129	0.0:0.1205:0.0:0.8795	.	124	Q5T7W7	TSTD2_HUMAN	G	124	ENSP00000342499:S124G	ENSP00000342499:S124G	S	-	1	0	TSTD2	99427896	0.000000	0.05858	0.044000	0.18714	0.529000	0.34654	0.096000	0.15147	0.398000	0.25338	0.533000	0.62120	AGT		0.438	TSTD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053325.4	NM_139246		53	69	0	0	0	1	0	53	69					C	100388075	T	C	100388075	3	2	215	1	0	0	0	0	1	0	0	0	16672	1551	54	4	1212	4	TSTD2	9	100388075	Missense_Mutation	SNP	T	TCGA-HC-7744-01A-11D-2114-08		100388075	40825356	24	9894											
CDHR1	92211	broad.mit.edu	37	chr10	85961671	85961671	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccactacatcaccgtggtcGccaaggtaacacagcaggac	12	5	9	15	2	1	0	1	0	0	0	2	1	1	1	3	3	3	2	3	3	3	2	rs200880106		TCGA-HC-7744-01A-11D-2114-08	TCGA-HC-7744-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0192d529-7340-45d8-a5f0-249cbb11ca19	12e7e0e3-0619-4659-ac66-f999415ad396	g.chr10:85961671G>A	ENST00000372117.3	+	7	737	c.634G>A	c.(634-636)Gcc>Acc	p.A212T	CDHR1_ENST00000440770.2_5'UTR|CDHR1_ENST00000332904.3_Missense_Mutation_p.A212T	NM_033100.2	NP_149091.1	Q96JP9	CDHR1_HUMAN	cadherin-related family member 1	212	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.		A -> T. {ECO:0000269|PubMed:16288196}.		cellular process (GO:0009987)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)	integral component of plasma membrane (GO:0005887)|photoreceptor outer segment membrane (GO:0042622)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(21)|ovary(1)|prostate(1)|skin(1)	36						CACCGTGGTCGCCAAGGTAAC	0.617																																						ENST00000372117.3																			0				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(21)|ovary(1)|prostate(1)|skin(1)	36	GRCh37	CM056677	CDHR1	M		c.(634-636)Gcc>Acc		cadherin-related family member 1		G	THR/ALA,THR/ALA	0,4406		0,0,2203	59	65	63		634,634	5.2	1	10		63	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	CDHR1	NM_001171971.1,NM_033100.2	58,58	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging	212/746,212/860	85961671	1,13005	2203	4300	6503	SO:0001583	missense	92211				homophilic cell adhesion		calcium ion binding|receptor activity	g.chr10:85961671G>A	AB053448	CCDS7372.1, CCDS53548.1	10q23.1	2014-01-28	2010-01-25	2010-01-25	ENSG00000148600	ENSG00000148600		"Cadherins / Cadherin-related"	14550	protein-coding gene	gene with protein product		609502	"protocadherin 21"	PCDH21		11597768	Standard	NM_001171971		Approved	KIAA1775, CORD15, RP65	uc001kcv.3	Q96JP9	OTTHUMG00000018634	ENST00000372117.3:c.634G>A	10.37:g.85961671G>A	ENSP00000361189:p.Ala212Thr					CDHR1_ENST00000332904.3_Missense_Mutation_p.A212T|CDHR1_ENST00000440770.2_5'UTR	p.A212T	NM_033100.2	NP_149091.1	Q96JP9	CDHR1_HUMAN			7	737	+			212		A -> T.	Cadherin 2.		Q69YZ8|Q8IXY5	Missense_Mutation	SNP	ENST00000372117.3	37	c.634G>A	CCDS7372.1	.	.	.	.	.	.	.	.	.	.	G	32	5.112920	0.94339	0.0	1.16E-4	ENSG00000148600	ENST00000332904;ENST00000372117	T;T	0.36878	1.23;1.23	5.16	5.16	0.70880	Cadherin (5);Cadherin-like (1);	0.051920	0.85682	D	0.000000	T	0.70395	0.3219	H	0.95611	3.695	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.68192	0.949;0.956	T	0.80197	-0.1482	10	0.87932	D	0	-26.7635	15.9134	0.79491	0.0:0.0:1.0:0.0	.	212;212	Q96JP9-2;Q96JP9	.;CDHR1_HUMAN	T	212	ENSP00000331063:A212T;ENSP00000361189:A212T	ENSP00000331063:A212T	A	+	1	0	CDHR1	85951651	1.000000	0.71417	0.994000	0.49952	0.774000	0.43823	8.827000	0.92041	2.583000	0.87209	0.655000	0.94253	GCC		0.617	CDHR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049111.1	NM_033100		6	17	0	0	0	1	0	6	17					A	85961671	G	A	85961671	3	1	215	1	0	0	0	0	1	0	0	0	3118	1087	38	1	660	1	CDHR1	10	85961671	Missense_Mutation	SNP	G	TCGA-HC-7744-01A-11D-2114-08		85961671	49573076	25	9895											
EHBP1L1	254102	broad.mit.edu	37	chr11	65349635	65349635	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aacttggtgacctcgaggggGccagggctgctgcaggccag	7	6	17	11	1	0	1	0	1	0	0	1	2	0	1	3	5	3	3	3	5	1	1			TCGA-HC-7744-01A-11D-2114-08	TCGA-HC-7744-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0192d529-7340-45d8-a5f0-249cbb11ca19	12e7e0e3-0619-4659-ac66-f999415ad396	g.chr11:65349635G>T	ENST00000309295.4	+	9	1757	c.1492G>T	c.(1492-1494)Gcc>Tcc	p.A498S		NM_001099409.1	NP_001092879.1	Q8N3D4	EH1L1_HUMAN	EH domain binding protein 1-like 1	498						membrane (GO:0016020)				central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23						CCTCGAGGGGGCCAGGGCTGC	0.672																																						ENST00000309295.4																			0				central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23						c.(1492-1494)Gcc>Tcc		EH domain binding protein 1-like 1							17	19	18					11																	65349635		1955	4129	6084	SO:0001583	missense	254102							g.chr11:65349635G>T	AL834433	CCDS44649.1	11q13.1	2008-02-05			ENSG00000173442	ENSG00000173442			30682	protein-coding gene	gene with protein product							Standard	NM_001099409		Approved	DKFZp762C186, TANGERIN	uc001oeo.4	Q8N3D4	OTTHUMG00000166520	ENST00000309295.4:c.1492G>T	11.37:g.65349635G>T	ENSP00000312671:p.Ala498Ser						p.A498S	NM_001099409.1	NP_001092879.1	Q8N3D4	EH1L1_HUMAN			9	1757	+			498					Q8TB89|Q9H7M7	Missense_Mutation	SNP	ENST00000309295.4	37	c.1492G>T	CCDS44649.1	.	.	.	.	.	.	.	.	.	.	G	19.79	3.893636	0.72639	.	.	ENSG00000173442	ENST00000309295	T	0.66460	-0.21	4.95	-0.69	0.11309	.	0.559584	0.15030	N	0.284539	T	0.46386	0.1390	L	0.32530	0.975	0.09310	N	1	B	0.14805	0.011	B	0.13407	0.009	T	0.26430	-1.0103	10	0.40728	T	0.16	.	2.3476	0.04275	0.1366:0.1352:0.4531:0.2751	.	498	Q8N3D4	EH1L1_HUMAN	S	498	ENSP00000312671:A498S	ENSP00000312671:A498S	A	+	1	0	EHBP1L1	65106211	0.000000	0.05858	0.000000	0.03702	0.465000	0.32709	0.013000	0.13310	0.074000	0.16767	0.561000	0.74099	GCC		0.672	EHBP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390145.1	XM_170658		5	17	1	0	0.00448238	1	0.0046484	5	17					T	65349635	G	T	65349635	3	4	215	1	0	0	0	0	1	0	0	0	4976	1203	42	5	1526	5	EHBP1L1	11	65349635	Missense_Mutation	SNP	G	TCGA-HC-7744-01A-11D-2114-08		65349635	69656881	26	9896											
DBX2	440097	broad.mit.edu	37	chr12	45444478	45444478	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gctttaggggaactgggctaGcaggcaggggccggagctgc	7	6	19	9	1	0	0	0	0	0	0	0	2	0	2	1	7	4	5	1	7	3	3			TCGA-HC-7744-01A-11D-2114-08	TCGA-HC-7744-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0192d529-7340-45d8-a5f0-249cbb11ca19	12e7e0e3-0619-4659-ac66-f999415ad396	g.chr12:45444478G>A	ENST00000332700.6	-	1	404	c.233C>T	c.(232-234)gCt>gTt	p.A78V	RP11-478B9.1_ENST00000548424.1_RNA	NM_001004329.2	NP_001004329.2	Q6ZNG2	DBX2_HUMAN	developing brain homeobox 2	78					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			endometrium(3)|kidney(1)|large_intestine(3)|lung(9)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	22	Lung SC(27;0.192)	Lung NSC(34;0.142)		GBM - Glioblastoma multiforme(48;0.0515)		AACTGGGCTAGCAGGCAGGGG	0.746																																						ENST00000332700.6																			0				endometrium(3)|kidney(1)|large_intestine(3)|lung(9)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	22						c.(232-234)gCt>gTt		developing brain homeobox 2							2	2	2					12																	45444478		1612	3392	5004	SO:0001583	missense	440097					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr12:45444478G>A		CCDS31781.1	12q12	2011-06-20				ENSG00000185610		"Homeoboxes / ANTP class : NKL subclass"	33186	protein-coding gene	gene with protein product						11239429	Standard	NM_001004329		Approved	FLJ16139	uc001rok.1	Q6ZNG2	OTTHUMG00000169559	ENST00000332700.6:c.233C>T	12.37:g.45444478G>A	ENSP00000331470:p.Ala78Val						p.A78V	NM_001004329.2	NP_001004329.2	Q6ZNG2	DBX2_HUMAN		GBM - Glioblastoma multiforme(48;0.0515)	1	404	-	Lung SC(27;0.192)	Lung NSC(34;0.142)	78						Missense_Mutation	SNP	ENST00000332700.6	37	c.233C>T	CCDS31781.1	.	.	.	.	.	.	.	.	.	.	G	17.41	3.383185	0.61845	.	.	ENSG00000185610	ENST00000332700	D	0.91686	-2.89	3.0	3.0	0.34707	.	0.471742	0.17460	N	0.173485	D	0.83852	0.5344	N	0.24115	0.695	0.21386	N	0.99971	B	0.26635	0.155	B	0.23852	0.049	T	0.69135	-0.5225	10	0.15066	T	0.55	-5.9337	11.6437	0.51249	0.0:0.0:1.0:0.0	.	78	Q6ZNG2	DBX2_HUMAN	V	78	ENSP00000331470:A78V	ENSP00000331470:A78V	A	-	2	0	DBX2	43730745	1.000000	0.71417	0.072000	0.20136	0.011000	0.07611	2.933000	0.48948	1.684000	0.51022	0.558000	0.71614	GCT		0.746	DBX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404810.1	NM_001004329		2	2	0	0	0	1	0	2	2					A	45444478	G	A	45444478	3	1	215	1	0	0	0	0	1	0	0	0	4260	971	34	3	802	3	DBX2	12	45444478	Missense_Mutation	SNP	G	TCGA-HC-7744-01A-11D-2114-08		45444478	88407417	27	9897											
ACVR1B	91	broad.mit.edu	37	chr12	52379005	52379005	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gaattgctcatcgagacttaAagtcaaagaacattctggtg	14	11	9	7	1	3	2	2	0	1	2	4	4	3	2	0	1	2	1	0	1	5	3			TCGA-HC-7744-01A-11D-2114-08	TCGA-HC-7744-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0192d529-7340-45d8-a5f0-249cbb11ca19	12e7e0e3-0619-4659-ac66-f999415ad396	g.chr12:52379005A>G	ENST00000257963.4	+	6	1086	c.1009A>G	c.(1009-1011)Aag>Gag	p.K337E	ACVR1B_ENST00000541224.1_Missense_Mutation_p.K378E|RNU6-574P_ENST00000384265.1_RNA|ACVR1B_ENST00000426655.2_Missense_Mutation_p.K337E|ACVR1B_ENST00000563121.1_3'UTR|ACVR1B_ENST00000542485.1_Missense_Mutation_p.K285E|ACVR1B_ENST00000415850.2_Missense_Mutation_p.K337E	NM_004302.4|NM_020328.3	NP_004293.1|NP_064733.3	P36896	ACV1B_HUMAN	activin A receptor, type IB	337	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activin receptor signaling pathway (GO:0032924)|central nervous system development (GO:0007417)|development of primary female sexual characteristics (GO:0046545)|extrinsic apoptotic signaling pathway (GO:0097191)|G1/S transition of mitotic cell cycle (GO:0000082)|hair follicle development (GO:0001942)|in utero embryonic development (GO:0001701)|negative regulation of cell growth (GO:0030308)|nodal signaling pathway (GO:0038092)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of activin receptor signaling pathway (GO:0032927)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of trophoblast cell migration (GO:1901165)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	activin receptor activity, type I (GO:0016361)|ATP binding (GO:0005524)|inhibin binding (GO:0034711)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|SMAD binding (GO:0046332)|transforming growth factor beta-activated receptor activity (GO:0005024)|transmembrane receptor protein serine/threonine kinase activity (GO:0004675)|ubiquitin protein ligase binding (GO:0031625)			breast(5)|endometrium(4)|kidney(5)|large_intestine(12)|lung(10)|ovary(1)|pancreas(6)|prostate(1)	44				BRCA - Breast invasive adenocarcinoma(357;0.104)	Adenosine triphosphate(DB00171)	TCGAGACTTAAAGTCAAAGAA	0.438																																						ENST00000257963.4																			0				breast(5)|endometrium(4)|kidney(5)|large_intestine(12)|lung(10)|ovary(1)|pancreas(6)|prostate(1)	44						c.(1009-1011)Aag>Gag		activin A receptor, type IB	Adenosine triphosphate(DB00171)						87	83	84					12																	52379005		2203	4300	6503	SO:0001583	missense	91				G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|peptidyl-threonine phosphorylation|positive regulation of activin receptor signaling pathway|positive regulation of erythrocyte differentiation|protein autophosphorylation|transmembrane receptor protein serine/threonine kinase signaling pathway	cell surface	activin receptor activity, type I|ATP binding|metal ion binding|SMAD binding|transforming growth factor beta receptor activity|ubiquitin protein ligase binding	g.chr12:52379005A>G		CCDS8816.1, CCDS44893.1, CCDS44894.1, CCDS44893.2, CCDS44894.2	12q13	2006-11-09			ENSG00000135503	ENSG00000135503			172	protein-coding gene	gene with protein product		601300		ACVRLK4		8397373	Standard	NM_020327		Approved	ALK4, SKR2, ActRIB	uc010snn.2	P36896	OTTHUMG00000167920	ENST00000257963.4:c.1009A>G	12.37:g.52379005A>G	ENSP00000257963:p.Lys337Glu					ACVR1B_ENST00000415850.2_Missense_Mutation_p.K337E|ACVR1B_ENST00000563121.1_3'UTR|ACVR1B_ENST00000542485.1_Missense_Mutation_p.K285E|ACVR1B_ENST00000541224.1_Missense_Mutation_p.K378E|ACVR1B_ENST00000426655.2_Missense_Mutation_p.K337E	p.K337E	NM_004302.4|NM_020328.3	NP_004293.1|NP_064733.3	P36896	ACV1B_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.104)	6	1086	+			337			Protein kinase.		B7Z5L8|B7Z5W5|Q15479|Q15480|Q15481|Q15482	Missense_Mutation	SNP	ENST00000257963.4	37	c.1009A>G	CCDS8816.1	.	.	.	.	.	.	.	.	.	.	A	23.5	4.419235	0.83559	.	.	ENSG00000135503	ENST00000257963;ENST00000541224;ENST00000426655;ENST00000415850;ENST00000542485	D;D;D;D;D	0.91068	-2.78;-2.78;-2.78;-2.78;-2.78	4.76	3.6	0.41247	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.97034	0.9031	H	0.98883	4.36	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.998;0.997;0.999;1.0	D	0.96823	0.9605	10	0.87932	D	0	.	11.1309	0.48347	0.8617:0.0:0.0:0.1383	.	378;337;337;337	P36896-4;P36896;P36896-2;P36896-3	.;ACV1B_HUMAN;.;.	E	337;378;337;337;285	ENSP00000257963:K337E;ENSP00000442656:K378E;ENSP00000390477:K337E;ENSP00000397550:K337E;ENSP00000442885:K285E	ENSP00000257963:K337E	K	+	1	0	ACVR1B	50665272	1.000000	0.71417	0.997000	0.53966	0.995000	0.86356	9.139000	0.94554	0.939000	0.37446	0.460000	0.39030	AAG		0.438	ACVR1B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397000.1	NM_020328		18	29	0	0	0	1	0	18	29					G	52379005	A	G	52379005	3	3	215	1	0	0	0	0	1	0	0	0	221	15	1	4	1158	4	ACVR1B	12	52379005	Missense_Mutation	SNP	A	TCGA-HC-7744-01A-11D-2114-08	6934527	52379005	81472890	28	9898											
CCT2	10576	broad.mit.edu	37	chr12	69986785	69986785	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcccgggtaagagttgactcTacagcaaaggttgcagaaat	13	9	11	8	1	1	3	0	1	1	2	2	3	2	3	1	2	3	5	1	2	4	4	rs201962311	byFrequency	TCGA-HC-7744-01A-11D-2114-08	TCGA-HC-7744-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0192d529-7340-45d8-a5f0-249cbb11ca19	12e7e0e3-0619-4659-ac66-f999415ad396	g.chr12:69986785T>C	ENST00000299300.6	+	9	968	c.780T>C	c.(778-780)tcT>tcC	p.S260S	CCT2_ENST00000544368.2_Silent_p.S260S|CCT2_ENST00000543146.2_Silent_p.S213S	NM_006431.2	NP_006422.1	P78371	TCPB_HUMAN	chaperonin containing TCP1, subunit 2 (beta)	260					'de novo' posttranslational protein folding (GO:0051084)|binding of sperm to zona pellucida (GO:0007339)|cellular protein metabolic process (GO:0044267)|chaperone-mediated protein complex assembly (GO:0051131)|protein folding (GO:0006457)	cell body (GO:0044297)|chaperonin-containing T-complex (GO:0005832)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|zona pellucida receptor complex (GO:0002199)	ATP binding (GO:0005524)|unfolded protein binding (GO:0051082)			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(2)|stomach(1)	24	all_cancers(2;7.7e-106)|Breast(13;2.15e-06)|Esophageal squamous(21;0.187)		Epithelial(6;2.72e-18)|GBM - Glioblastoma multiforme(2;2.58e-10)|Lung(24;0.000185)|OV - Ovarian serous cystadenocarcinoma(12;0.00126)|STAD - Stomach adenocarcinoma(21;0.00501)|Kidney(9;0.143)|LUSC - Lung squamous cell carcinoma(43;0.24)			GAGTTGACTCTACAGCAAAGG	0.363													T|||	5	0.000998403	0.0038	0	5008	,	,		19993	0		0	False		,,,				2504	0					ENST00000543146.2																			0				central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(2)|stomach(1)	24						c.(637-639)tcT>tcC		chaperonin containing TCP1, subunit 2 (beta)							81	81	81					12																	69986785		2203	4300	6503	SO:0001819	synonymous_variant	10576				'de novo' posttranslational protein folding	nucleus	ATP binding|unfolded protein binding	g.chr12:69986785T>C	AF026293	CCDS8991.1, CCDS55843.1	12q14	2011-09-02						"Heat Shock Proteins / Chaperonins"	1615	protein-coding gene	gene with protein product		605139				9819444	Standard	NM_001198842		Approved	Cctb	uc001svb.1	P78371	OTTHUMG00000169383	ENST00000299300.6:c.780T>C	12.37:g.69986785T>C						CCT2_ENST00000299300.6_Silent_p.S260S|CCT2_ENST00000544368.2_Silent_p.S260S	p.S213S	NM_001198842.1	NP_001185771.1	P78371	TCPB_HUMAN	Epithelial(6;2.72e-18)|GBM - Glioblastoma multiforme(2;2.58e-10)|Lung(24;0.000185)|OV - Ovarian serous cystadenocarcinoma(12;0.00126)|STAD - Stomach adenocarcinoma(21;0.00501)|Kidney(9;0.143)|LUSC - Lung squamous cell carcinoma(43;0.24)		9	1121	+	all_cancers(2;7.7e-106)|Breast(13;2.15e-06)|Esophageal squamous(21;0.187)		260					A8K402|B5BTY7|B7Z243|B7Z7K4|B7ZAT2|Q14D36|Q6IAT3	Silent	SNP	ENST00000299300.6	37	c.639T>C	CCDS8991.1																																																																																				0.363	CCT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403818.1	NM_006431		19	31	0	0	0	1	0	19	31					C	69986785	T	C	69986785	2	2	215	1	0	0	0	0	0	0	0	1	2953	1509	53	4		4	CCT2	12	69986785	Silent	SNP	T	TCGA-HC-7744-01A-11D-2114-08	17607780	69986785	63865110	29	9899											
MAPKAPK5	8550	broad.mit.edu	37	chr12	112326400	112326400	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	actcagtgaacaaccccattCtgcggaagaggaagttactt	13	9	9	10	1	2	2	1	1	1	1	2	4	2	4	2	2	4	1	2	2	5	3			TCGA-HC-7744-01A-11D-2114-08	TCGA-HC-7744-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0192d529-7340-45d8-a5f0-249cbb11ca19	12e7e0e3-0619-4659-ac66-f999415ad396	g.chr12:112326400C>G	ENST00000551404.2	+	11	1186	c.1078C>G	c.(1078-1080)Ctg>Gtg	p.L360V	MAPKAPK5_ENST00000550735.2_Missense_Mutation_p.L360V			Q8IW41	MAPK5_HUMAN	mitogen-activated protein kinase-activated protein kinase 5	360					activation of MAPK activity (GO:0000187)|MAPK cascade (GO:0000165)|negative regulation of TOR signaling (GO:0032007)|protein autophosphorylation (GO:0046777)|Ras protein signal transduction (GO:0007265)|regulation of translation (GO:0006417)|signal transduction (GO:0007165)|stress-induced premature senescence (GO:0090400)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|MAP kinase kinase activity (GO:0004708)|p53 binding (GO:0002039)|protein serine/threonine kinase activity (GO:0004674)			endometrium(1)|lung(11)|ovary(1)	13						CAACCCCATTCTGCGGAAGAG	0.463																																						ENST00000550735.2																			0				endometrium(1)|lung(11)|ovary(1)	13						c.(1078-1080)Ctg>Gtg		mitogen-activated protein kinase-activated protein kinase 5							126	127	126					12																	112326400		1934	4142	6076	SO:0001583	missense	8550				signal transduction	cytoplasm|nucleus	ATP binding|MAP kinase kinase activity|protein binding|protein serine/threonine kinase activity	g.chr12:112326400C>G	AF032437	CCDS44975.1, CCDS44976.1	12q24.13	2012-05-30			ENSG00000089022	ENSG00000089022			6889	protein-coding gene	gene with protein product		606723				9628874	Standard	NM_003668		Approved	PRAK	uc001tta.4	Q8IW41	OTTHUMG00000169605	ENST00000551404.2:c.1078C>G	12.37:g.112326400C>G	ENSP00000449381:p.Leu360Val					MAPKAPK5_ENST00000551404.2_Missense_Mutation_p.L360V	p.L360V	NM_003668.2|NM_139078.1	NP_003659.2|NP_620777.1	Q8IW41	MAPK5_HUMAN			11	1834	+			360					B3KVA5|O60491|Q86X46|Q9BVX9|Q9UG86	Missense_Mutation	SNP	ENST00000551404.2	37	c.1078C>G	CCDS44975.1	.	.	.	.	.	.	.	.	.	.	C	19.77	3.888774	0.72524	.	.	ENSG00000089022	ENST00000550735;ENST00000202788;ENST00000428907;ENST00000551404;ENST00000552111;ENST00000547067	T;T	0.56103	0.48;0.49	6.08	6.08	0.98989	Protein kinase-like domain (1);	0.122287	0.56097	D	0.000023	T	0.62429	0.2427	N	0.24115	0.695	0.80722	D	1	P;P;D	0.56035	0.546;0.956;0.974	B;P;D	0.67725	0.373;0.899;0.953	T	0.62751	-0.6788	10	0.56958	D	0.05	.	20.6634	0.99662	0.0:1.0:0.0:0.0	.	354;360;360	C9J458;Q8IW41;Q8IW41-2	.;MAPK5_HUMAN;.	V	360;360;360;360;41;21	ENSP00000449667:L360V;ENSP00000449381:L360V	ENSP00000202788:L360V	L	+	1	2	MAPKAPK5	110810783	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.656000	0.67988	2.894000	0.99253	0.655000	0.94253	CTG		0.463	MAPKAPK5-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000405019.2	NM_139078		45	64	0	0	0	1	0	45	64					G	112326400	C	G	112326400	3	3	215	1	0	0	0	0	1	0	0	0	9291	912	32	5	1120	5	MAPKAPK5	12	112326400	Missense_Mutation	SNP	C	TCGA-HC-7744-01A-11D-2114-08	42339615	112326400	21525495	30	9900											
AHNAK2	113146	broad.mit.edu	37	chr14	105419663	105419663	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcatggagaggaggctcaCgtcggcctccaccttcggcg	6	7	14	14	4	1	1	1	0	0	1	4	3	2	2	3	5	1	2	3	5	0	1			TCGA-HC-7744-01A-11D-2114-08	TCGA-HC-7744-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0192d529-7340-45d8-a5f0-249cbb11ca19	12e7e0e3-0619-4659-ac66-f999415ad396	g.chr14:105419663C>T	ENST00000333244.5	-	7	2244	c.2125G>A	c.(2125-2127)Gtg>Atg	p.V709M	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	709						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			AGGAGGCTCACGTCGGCCTCC	0.612																																						ENST00000333244.5																			0				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33						c.(2125-2127)Gtg>Atg		AHNAK nucleoprotein 2							129	140	136					14																	105419663		1986	4161	6147	SO:0001583	missense	113146					nucleus		g.chr14:105419663C>T	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"chromosome 14 open reading frame 78"	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.2125G>A	14.37:g.105419663C>T	ENSP00000353114:p.Val709Met					AHNAK2_ENST00000557457.1_Intron	p.V709M	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)		7	2244	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	709					Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	ENST00000333244.5	37	c.2125G>A	CCDS45177.1	.	.	.	.	.	.	.	.	.	.	c	9.253	1.041148	0.19669	.	.	ENSG00000185567	ENST00000333244	T	0.01145	5.27	2.77	0.58	0.17402	.	.	.	.	.	T	0.01353	0.0044	M	0.79926	2.475	0.09310	N	1	P	0.48016	0.904	B	0.33454	0.164	T	0.46205	-0.9208	9	0.40728	T	0.16	-2.0318	0.9845	0.01443	0.1792:0.4124:0.1762:0.2323	.	709	Q8IVF2	AHNK2_HUMAN	M	709	ENSP00000353114:V709M	ENSP00000353114:V709M	V	-	1	0	AHNAK2	104490708	0.000000	0.05858	0.001000	0.08648	0.002000	0.02628	-0.486000	0.06513	0.158000	0.19367	-0.264000	0.10439	GTG		0.612	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		5	182	0	0	0	1	0	5	182					T	105419663	C	T	105419663	3	4	215	1	0	0	0	0	1	0	0	0	415	536	19	1	15266	1	AHNAK2	14	105419663	Missense_Mutation	SNP	C	TCGA-HC-7744-01A-11D-2114-08		105419663	1929877	31	9901											
SPG11	80208	broad.mit.edu	37	chr15	44865858	44865858	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aggcctgggctcgtttgcatCggtcaggctgctgagaggcc	5	9	16	11	2	1	1	1	1	0	1	3	2	1	1	2	5	2	5	2	5	0	1			TCGA-HC-7744-01A-11D-2114-08	TCGA-HC-7744-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0192d529-7340-45d8-a5f0-249cbb11ca19	12e7e0e3-0619-4659-ac66-f999415ad396	g.chr15:44865858C>T	ENST00000261866.7	-	32	6108	c.6092G>A	c.(6091-6093)cGa>cAa	p.R2031Q	SPG11_ENST00000535302.2_Intron|SPG11_ENST00000558319.1_Missense_Mutation_p.R2031Q|SPG11_ENST00000427534.2_Missense_Mutation_p.R2031Q	NM_025137.3	NP_079413.3	Q96JI7	SPTCS_HUMAN	spastic paraplegia 11 (autosomal recessive)	2031					cell death (GO:0008219)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	72		all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122)		all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214)		TCGTTTGCATCGGTCAGGCTG	0.547																																						ENST00000261866.7																			0				autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	72						c.(6091-6093)cGa>cAa		spastic paraplegia 11 (autosomal recessive)							98	78	85					15																	44865858		2198	4298	6496	SO:0001583	missense	80208				cell death	cytosol|integral to membrane|nucleus	protein binding	g.chr15:44865858C>T		CCDS10112.1, CCDS53939.1	15q13-q15	2007-11-13			ENSG00000104133	ENSG00000104133			11226	protein-coding gene	gene with protein product	"spatacsin"	610844	"KIAA1840"	KIAA1840		10408536, 17322883	Standard	NM_001160227		Approved	FLJ21439	uc001ztx.3	Q96JI7	OTTHUMG00000131199	ENST00000261866.7:c.6092G>A	15.37:g.44865858C>T	ENSP00000261866:p.Arg2031Gln					SPG11_ENST00000535302.2_Intron|SPG11_ENST00000427534.2_Missense_Mutation_p.R2031Q|SPG11_ENST00000558319.1_Missense_Mutation_p.R2031Q	p.R2031Q	NM_025137.3	NP_079413.3	Q96JI7	SPTCS_HUMAN		all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214)	32	6108	-		all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122)	2031					A8KAX9|B9EK60|F5H3N6|Q4VC11|Q58G86|Q69YG6|Q6NW01|Q8N270|Q8TBU9|Q9H734	Missense_Mutation	SNP	ENST00000261866.7	37	c.6092G>A	CCDS10112.1	.	.	.	.	.	.	.	.	.	.	C	35	5.573181	0.96553	.	.	ENSG00000104133	ENST00000261866;ENST00000427534	T;T	0.78364	-1.17;-0.91	6.17	6.17	0.99709	.	0.053398	0.85682	D	0.000000	D	0.86606	0.5973	M	0.73598	2.24	0.80722	D	1	D;D	0.76494	0.999;0.999	P;P	0.61070	0.883;0.809	D	0.84558	0.0648	10	0.38643	T	0.18	.	18.6524	0.91435	0.0:1.0:0.0:0.0	.	2031;2031	C4B7M2;Q96JI7	.;SPTCS_HUMAN	Q	2031	ENSP00000261866:R2031Q;ENSP00000396110:R2031Q	ENSP00000261866:R2031Q	R	-	2	0	SPG11	42653150	0.971000	0.33674	1.000000	0.80357	0.997000	0.91878	4.236000	0.58675	2.941000	0.99782	0.655000	0.94253	CGA		0.547	SPG11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253927.1			9	42	0	0	0	1	0	9	42					T	44865858	C	T	44865858	3	4	215	1	0	0	0	0	1	0	0	0	15040	884	31	2	1275	2	SPG11	15	44865858	Missense_Mutation	SNP	C	TCGA-HC-7744-01A-11D-2114-08		44865858	57665534	32	9902											
CNOT1	23019	broad.mit.edu	37	chr16	58559108	58559109	+	Frame_Shift_Ins	INS	-	-	T																															tgtccaagtccacagccaaaINSttctggaagatatccatgtg																										TCGA-HC-7744-01A-11D-2114-08	TCGA-HC-7744-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0192d529-7340-45d8-a5f0-249cbb11ca19	12e7e0e3-0619-4659-ac66-f999415ad396	g.chr16:58559108_58559109insT	ENST00000317147.5	-	46	7090_7091	c.6758_6759insA	c.(6757-6759)aatfs	p.N2253fs	CNOT1_ENST00000569240.1_Frame_Shift_Ins_p.N2248fs|CNOT1_ENST00000245138.4_Frame_Shift_Ins_p.N1104fs	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1	2253					gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of cytoplasmic mRNA processing body assembly (GO:0010606)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|regulation of stem cell maintenance (GO:2000036)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|transcription, DNA-templated (GO:0006351)|trophectodermal cell differentiation (GO:0001829)	CCR4-NOT complex (GO:0030014)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|extracellular space (GO:0005615)|membrane (GO:0016020)|nucleus (GO:0005634)|peroxisomal membrane (GO:0005778)	estrogen receptor binding (GO:0030331)|poly(A) RNA binding (GO:0044822)|retinoic acid receptor binding (GO:0042974)			breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		CCACAGCCAAATTCTGGAAGAT	0.47																																						ENST00000317147.5																			0				breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87						c.(6757-6759)attfs		CCR4-NOT transcription complex, subunit 1																																				SO:0001589	frameshift_variant	23019				nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol		g.chr16:58559108_58559109insT	AL833549	CCDS10799.1, CCDS45501.1, CCDS58468.1	16q21	2008-02-05			ENSG00000125107	ENSG00000125107			7877	protein-coding gene	gene with protein product		604917		NOT1		14702039	Standard	NM_016284		Approved	CDC39, NOT1H, KIAA1007, AD-005	uc002env.4	A5YKK6	OTTHUMG00000133487	ENST00000317147.5:c.6759dupA	16.37:g.58559110_58559110dupT	ENSP00000320949:p.Asn2253fs					CNOT1_ENST00000569240.1_Frame_Shift_Ins_p.I2248fs|CNOT1_ENST00000245138.4_Frame_Shift_Ins_p.I1104fs	p.I2253fs	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN		Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)	46	7090_7091	-			2253					Q68DX7|Q7Z3K2|Q8IWB8|Q8TB53|Q9BVZ6|Q9UFR8|Q9UI27|Q9Y2L0	Frame_Shift_Ins	INS	ENST00000317147.5	37	c.6758_6759insA	CCDS10799.1																																																																																				0.47	CNOT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257385.3	NM_016284		9	243						9	243	---	---	---	---	T	58559109	-	T	58559108	7	5	215	1	0	1	1	0	0	0	0	0	3617	98	4	0	387	0	CNOT1	16	58559108	Frame_Shift_Ins	INS	-	TCGA-HC-7744-01A-11D-2114-08		58559108	31795645	33	9903											
FANCA	2175	broad.mit.edu	37	chr16	89831297	89831297	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggagaaggaacggtcacctaCgtgaacatcttcctctttca	11	10	9	11	2	4	2	2	1	2	1	5	4	5	3	2	3	3	0	2	3	4	3	rs140180549		TCGA-HC-7744-01A-11D-2114-08	TCGA-HC-7744-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0192d529-7340-45d8-a5f0-249cbb11ca19	12e7e0e3-0619-4659-ac66-f999415ad396	g.chr16:89831297C>T	ENST00000389301.3	-	28	2809		c.e28+1		FANCA_ENST00000568369.1_Splice_Site	NM_000135.2	NP_000126.2	O15360	FANCA_HUMAN	Fanconi anemia, complementation group A						DNA repair (GO:0006281)|female gonad development (GO:0008585)|male gonad development (GO:0008584)|male meiosis (GO:0007140)|protein complex assembly (GO:0006461)|regulation of cell proliferation (GO:0042127)	cytoplasm (GO:0005737)|Fanconi anaemia nuclear complex (GO:0043240)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				breast(5)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|urinary_tract(3)	47		Lung NSC(15;8.48e-06)|all_lung(18;1.31e-05)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.028)		CGGTCACCTACGTGAACATCT	0.552			"D, Mis, N, F, S"			"AML, leukemia"		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																													ENST00000389301.3			yes	Rec		Fanconi anaemia A	16	16q24.3	2175	"D, Mis, N, F, S"	"Fanconi anemia, complementation group A"			L		"AML, leukemia"			0				breast(5)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|urinary_tract(3)	47						c.e28+1	Involved in tolerance or repair of DNA crosslinks	Fanconi anemia, complementation group A							119	98	105					16																	89831297		2198	4300	6498	SO:0001630	splice_region_variant	2175	Fanconi Anemia	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	DNA repair|protein complex assembly	cytoplasm|nucleoplasm	protein binding	g.chr16:89831297C>T	Z83067	CCDS32515.1, CCDS42221.1, CCDS67099.1	16q24.3	2014-09-17			ENSG00000187741	ENSG00000187741		"Fanconi anemia, complementation groups"	3582	protein-coding gene	gene with protein product		607139		FACA, FANCH		7581462, 9382107	Standard	NM_001286167		Approved	FAA, FA-H, FAH	uc002fou.1	O15360		ENST00000389301.3:c.2778+1G>A	16.37:g.89831297C>T						FANCA_ENST00000568369.1_Splice_Site		NM_000135.2	NP_000126.2	O15360	FANCA_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.028)	28	2809	-		Lung NSC(15;8.48e-06)|all_lung(18;1.31e-05)|all_hematologic(23;0.0194)						A5D923|B4DRI7|H3BSR5|O75266|Q6PL10|Q92497|Q96H18|Q9UEA5|Q9UEL8|Q9UEL9|Q9UPK3|Q9Y6M2	Splice_Site	SNP	ENST00000389301.3	37		CCDS32515.1	.	.	.	.	.	.	.	.	.	.	C	13.57	2.276354	0.40294	.	.	ENSG00000187741	ENST00000389301	.	.	.	5.21	5.21	0.72293	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.3113	0.66416	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	FANCA	88358798	0.986000	0.35501	0.612000	0.29024	0.012000	0.07955	4.034000	0.57289	2.440000	0.82611	0.650000	0.86243	.		0.552	FANCA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000421927.1		Intron	3	64	0	0	0	1	0	3	64					T	89831297	C	T	89831297	5	4	215	1	0	0	0	0	0	0	1	0	5662	550	19	1	1652	1	FANCA	16	89831297	Splice_Site	SNP	C	TCGA-HC-7744-01A-11D-2114-08	31272189	89831297	523456	34	9904											
ALOX15	246	broad.mit.edu	37	chr17	4541945	4541945	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atccttccagcaagtcagaaCatttagagagtctttgatag	13	12	8	8	0	2	3	1	1	1	2	4	4	4	3	2	0	2	1	2	0	4	5			TCGA-HC-7744-01A-11D-2114-08	TCGA-HC-7744-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0192d529-7340-45d8-a5f0-249cbb11ca19	12e7e0e3-0619-4659-ac66-f999415ad396	g.chr17:4541945C>A	ENST00000570836.1	-	6	673	c.577G>T	c.(577-579)Gtt>Ttt	p.V193F	ALOX15_ENST00000293761.3_Missense_Mutation_p.V193F|ALOX15_ENST00000574640.1_Missense_Mutation_p.V154F|ALOX15_ENST00000545513.1_Missense_Mutation_p.V215F			P16050	LOX15_HUMAN	arachidonate 15-lipoxygenase	193	Lipoxygenase. {ECO:0000255|PROSITE- ProRule:PRU00726}.				apoptotic cell clearance (GO:0043277)|arachidonic acid metabolic process (GO:0019369)|bone mineralization (GO:0030282)|cellular response to calcium ion (GO:0071277)|cellular response to interleukin-13 (GO:0035963)|hepoxilin biosynthetic process (GO:0051122)|inflammatory response (GO:0006954)|leukotriene metabolic process (GO:0006691)|lipoxin A4 biosynthetic process (GO:2001303)|lipoxygenase pathway (GO:0019372)|negative regulation of adaptive immune response (GO:0002820)|ossification (GO:0001503)|phosphatidylethanolamine biosynthetic process (GO:0006646)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|regulation of engulfment of apoptotic cell (GO:1901074)|regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035358)|response to endoplasmic reticulum stress (GO:0034976)|small molecule metabolic process (GO:0044281)|wound healing (GO:0042060)	cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|lipid particle (GO:0005811)|membrane (GO:0016020)|plasma membrane (GO:0005886)	arachidonate 12-lipoxygenase activity (GO:0004052)|arachidonate 15-lipoxygenase activity (GO:0050473)|eoxin A4 synthase activity (GO:0097260)|iron ion binding (GO:0005506)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(5)	20				READ - Rectum adenocarcinoma(115;0.0327)		CAAGTCAGAACATTTAGAGAG	0.532																																						ENST00000570836.1																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(5)	20						c.(577-579)Gtt>Ttt		arachidonate 15-lipoxygenase	Ciclopirox(DB01188)|Masoprocol(DB00179)|Zileuton(DB00744)						69	69	69					17																	4541945		2203	4300	6503	SO:0001583	missense	246				inflammatory response|leukotriene biosynthetic process	nucleus	arachidonate 15-lipoxygenase activity|iron ion binding|lipoxygenase activity	g.chr17:4541945C>A	M23892	CCDS11049.1	17p13.3	2010-09-24			ENSG00000161905	ENSG00000161905	1.13.11.33	"Arachidonate lipoxygenases"	433	protein-coding gene	gene with protein product		152392				1570320	Standard	NM_001140		Approved	15-LOX-1	uc002fyh.3	P16050	OTTHUMG00000090746	ENST00000570836.1:c.577G>T	17.37:g.4541945C>A	ENSP00000458832:p.Val193Phe					ALOX15_ENST00000545513.1_Missense_Mutation_p.V215F|ALOX15_ENST00000293761.3_Missense_Mutation_p.V193F|ALOX15_ENST00000574640.1_Missense_Mutation_p.V154F	p.V193F			P16050	LOX15_HUMAN		READ - Rectum adenocarcinoma(115;0.0327)	6	673	-			193			Lipoxygenase.		A8K2P4|B7ZA11|Q8N6R7|Q99657	Missense_Mutation	SNP	ENST00000570836.1	37	c.577G>T	CCDS11049.1	.	.	.	.	.	.	.	.	.	.	C	1.391	-0.580680	0.03854	.	.	ENSG00000161905	ENST00000293761;ENST00000545513	T;T	0.79141	-1.24;-1.24	4.55	-4.92	0.03075	Lipoxygenase, C-terminal (3);	2.461850	0.01412	N	0.014054	T	0.51719	0.1691	N	0.03608	-0.345	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.06405	0.002;0.002;0.002	T	0.53662	-0.8407	10	0.09084	T	0.74	-16.4216	8.5987	0.33732	0.0:0.5678:0.1484:0.2838	.	215;154;193	F5H0G8;B7ZA11;P16050	.;.;LOX15_HUMAN	F	193;215	ENSP00000293761:V193F;ENSP00000439855:V215F	ENSP00000293761:V193F	V	-	1	0	ALOX15	4488694	0.000000	0.05858	0.000000	0.03702	0.318000	0.28184	-4.274000	0.00262	-1.425000	0.01997	-0.291000	0.09656	GTT		0.532	ALOX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207487.2			3	65	1	0	0.00909568	1	0.00926106	3	65					A	4541945	C	A	4541945	3	1	215	1	0	0	0	0	1	0	0	0	538	478	17	5	1451	5	ALOX15	17	4541945	Missense_Mutation	SNP	C	TCGA-HC-7744-01A-11D-2114-08		4541945	76653265	35	9905											
NCOR1	9611	broad.mit.edu	37	chr17	15968316	15968317	+	Frame_Shift_Ins	INS	-	-	G																															aaaattgttggaggcatattINSggtcaggtcaatgattccta																										TCGA-HC-7744-01A-11D-2114-08	TCGA-HC-7744-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0192d529-7340-45d8-a5f0-249cbb11ca19	12e7e0e3-0619-4659-ac66-f999415ad396	g.chr17:15968316_15968317insG	ENST00000268712.3	-	34	5225_5226	c.4968_4969insC	c.(4966-4971)accaatfs	p.N1657fs	NCOR1_ENST00000395857.3_Frame_Shift_Ins_p.N241fs|NCOR1_ENST00000395851.1_Frame_Shift_Ins_p.N1673fs	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN	nuclear receptor corepressor 1	1657	Interaction with C1D. {ECO:0000250}.|Interaction with ETO.				CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation (GO:0002361)|cellular lipid metabolic process (GO:0044255)|cholesterol homeostasis (GO:0042632)|chromatin modification (GO:0016568)|circadian regulation of gene expression (GO:0032922)|definitive erythrocyte differentiation (GO:0060318)|gene expression (GO:0010467)|negative regulation of JNK cascade (GO:0046329)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of histone deacetylation (GO:0031065)|regulation of fatty acid transport (GO:2000191)|regulation of glycolytic process by negative regulation of transcription from RNA polymerase II promoter (GO:0072362)|regulation of lipid transport by negative regulation of transcription from RNA polymerase II promoter (GO:0072368)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|spindle assembly (GO:0051225)|thalamus development (GO:0021794)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|histone deacetylase binding (GO:0042826)|histone deacetylase regulator activity (GO:0035033)|nuclear hormone receptor binding (GO:0035257)|RNA polymerase II activating transcription factor binding (GO:0001102)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		GGAGGCATATTGGTCAGGTCAA	0.396																																						ENST00000268712.3																			0				NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107						c.(4966-4971)acatatfs		nuclear receptor corepressor 1																																				SO:0001589	frameshift_variant	9611				cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter	nuclear chromatin|spindle microtubule|transcriptional repressor complex	histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding	g.chr17:15968316_15968317insG	AF044209	CCDS11175.1, CCDS54094.1, CCDS54095.1	17p11.2	2014-06-12	2010-06-10		ENSG00000141027	ENSG00000141027			7672	protein-coding gene	gene with protein product	"thyroid hormone- and retinoic acid receptor-associated corepressor 1", "protein phosphatase 1, regulatory subunit 109"	600849	"nuclear receptor co-repressor 1"			7566114, 9724795	Standard	NM_006311		Approved	N-CoR, hCIT529I10, TRAC1, hN-CoR, KIAA1047, MGC104216, PPP1R109	uc002gpo.3	O75376	OTTHUMG00000059309	ENST00000268712.3:c.4969dupC	17.37:g.15968318_15968318dupG	ENSP00000268712:p.Asn1657fs					NCOR1_ENST00000395857.3_Frame_Shift_Ins_p.Y241fs|NCOR1_ENST00000395851.1_Frame_Shift_Ins_p.Y1673fs	p.Y1657fs	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.101)	34	5225_5226	-			1657			Interaction with C1D (By similarity).|Interaction with ETO.		B3DLF8|E9PGV6|Q86YY0|Q9UPV5|Q9UQ18	Frame_Shift_Ins	INS	ENST00000268712.3	37	c.4968_4969insC	CCDS11175.1																																																																																				0.396	NCOR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131751.5	NM_006311		80	169						80	169	---	---	---	---	G	15968317	-	G	15968316	7	5	215	1	0	1	1	0	0	0	0	0	10235	1812	63	0	2405	0	NCOR1	17	15968316	Frame_Shift_Ins	INS	-	TCGA-HC-7744-01A-11D-2114-08	11426371	15968316	65226894	36	9906											
KRTAP4-1	85285	broad.mit.edu	37	chr17	39340671	39340671	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtccaatatgaggttcaacAagaggatccacagcagctgg	14	7	11	9	0	1	2	1	1	0	1	3	3	3	3	2	3	3	3	2	3	4	2			TCGA-HC-7744-01A-11D-2114-08	TCGA-HC-7744-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0192d529-7340-45d8-a5f0-249cbb11ca19	12e7e0e3-0619-4659-ac66-f999415ad396	g.chr17:39340671A>G	ENST00000398472.1	-	1	923	c.436T>C	c.(436-438)Tgt>Cgt	p.C146R				Q9BYQ7	KRA41_HUMAN	keratin associated protein 4-1	146						keratin filament (GO:0045095)				kidney(1)|large_intestine(1)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	5		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000449)			GAGGTTCAACAAGAGGATCCA	0.527																																						ENST00000398472.1																			0				kidney(1)|large_intestine(1)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	5						c.(436-438)Tgt>Cgt		keratin associated protein 4-1							110	116	114					17																	39340671		2138	4272	6410	SO:0001583	missense	85285					keratin filament		g.chr17:39340671A>G	AC006070		17q21.2	2013-06-25			ENSG00000198443	ENSG00000198443		"Keratin associated proteins"	18907	protein-coding gene	gene with protein product			"keratin associated protein 4-10"	KRTAP4-10		11279113	Standard	NM_033060		Approved	KAP4.1, KAP4.10	uc002hwe.4	Q9BYQ7	OTTHUMG00000132081	ENST00000398472.1:c.436T>C	17.37:g.39340671A>G	ENSP00000381489:p.Cys146Arg						p.C146R			Q9BYQ7	KRA41_HUMAN	STAD - Stomach adenocarcinoma(17;0.000449)		1	923	-		Breast(137;0.000496)	146					A8MWS7|Q3SYF2	Missense_Mutation	SNP	ENST00000398472.1	37	c.436T>C		.	.	.	.	.	.	.	.	.	.	.	12.70	2.015426	0.35511	.	.	ENSG00000198443	ENST00000398472;ENST00000334190	T	0.02236	4.38	4.76	4.76	0.60689	.	.	.	.	.	T	0.03871	0.0109	.	.	.	0.20764	N	0.99985	P	0.41131	0.739	B	0.43274	0.414	T	0.37267	-0.9713	8	0.87932	D	0	.	10.6524	0.45655	1.0:0.0:0.0:0.0	.	146	Q9BYQ7	KRA41_HUMAN	R	146;127	ENSP00000381489:C146R	ENSP00000335483:C127R	C	-	1	0	KRTAP4-1	36594197	0.207000	0.23482	0.006000	0.13384	0.008000	0.06430	3.878000	0.56130	1.744000	0.51775	0.533000	0.62120	TGT		0.527	KRTAP4-1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000255108.1	NM_033060		5	226	0	0	0	1	0	5	226					G	39340671	A	G	39340671	3	3	215	1	0	0	0	0	1	0	0	0	8548	130	5	4	8	4	KRTAP4-1	17	39340671	Missense_Mutation	SNP	A	TCGA-HC-7744-01A-11D-2114-08	23372355	39340671	41854539	37	9907											
ENPP7	339221	broad.mit.edu	37	chr17	77705082	77705082	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tggacgccatggcccgagacGgggtgaaggcacgctacatg	9	5	16	11	4	0	2	0	1	0	1	0	4	0	3	2	5	1	2	2	5	2	1	rs551732034		TCGA-HC-7744-01A-11D-2114-08	TCGA-HC-7744-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0192d529-7340-45d8-a5f0-249cbb11ca19	12e7e0e3-0619-4659-ac66-f999415ad396	g.chr17:77705082G>A	ENST00000328313.5	+	1	402	c.181G>A	c.(181-183)Ggg>Agg	p.G61R		NM_178543.3	NP_848638.3			ectonucleotide pyrophosphatase/phosphodiesterase 7											breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(6)|skin(3)	34			OV - Ovarian serous cystadenocarcinoma(97;0.016)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			GGCCCGAGACGGGGTGAAGGC	0.647													G|||	1	0.000199681	0	0	5008	,	,		16426	0.001		0	False		,,,				2504	0					ENST00000328313.5																			0				breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(6)|skin(3)	34						c.(181-183)Ggg>Agg		ectonucleotide pyrophosphatase/phosphodiesterase 7							59	50	53					17																	77705082		2203	4300	6503	SO:0001583	missense	339221				negative regulation of cell proliferation|negative regulation of DNA replication|sphingomyelin metabolic process	Golgi apparatus|integral to membrane|microvillus	sphingomyelin phosphodiesterase activity	g.chr17:77705082G>A	AY230663	CCDS11763.1	17q25.3	2014-04-09			ENSG00000182156	ENSG00000182156			23764	protein-coding gene	gene with protein product	"alkaline sphingomyelinase"					12885774	Standard	NM_178543		Approved	alk-SMase, NPP7	uc002jxa.3	Q6UWV6	OTTHUMG00000177462	ENST00000328313.5:c.181G>A	17.37:g.77705082G>A	ENSP00000332656:p.Gly61Arg						p.G61R	NM_178543.3	NP_848638.2	Q6UWV6	ENPP7_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.016)|BRCA - Breast invasive adenocarcinoma(99;0.0224)		1	402	+			61						Missense_Mutation	SNP	ENST00000328313.5	37	c.181G>A	CCDS11763.1	.	.	.	.	.	.	.	.	.	.	G	19.80	3.895068	0.72639	.	.	ENSG00000182156	ENST00000328313	D	0.86366	-2.11	4.36	3.39	0.38822	Alkaline phosphatase-like, alpha/beta/alpha (1);Alkaline-phosphatase-like, core domain (1);	0.000000	0.85682	D	0.000000	D	0.95111	0.8416	H	0.96861	3.895	0.80722	D	1	D	0.71674	0.998	D	0.70016	0.967	D	0.95700	0.8748	10	0.87932	D	0	-44.2888	12.2432	0.54555	0.0846:0.0:0.9154:0.0	.	61	Q6UWV6	ENPP7_HUMAN	R	61	ENSP00000332656:G61R	ENSP00000332656:G61R	G	+	1	0	ENPP7	75319677	1.000000	0.71417	0.720000	0.30636	0.696000	0.40369	5.370000	0.66144	1.038000	0.40049	0.561000	0.74099	GGG		0.647	ENPP7-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437038.1	NM_178543		3	39	0	0	0	1	0	3	39					A	77705082	G	A	77705082	3	1	215	1	0	0	0	0	1	0	0	0	5135	1116	39	2	183	2	ENPP7	17	77705082	Missense_Mutation	SNP	G	TCGA-HC-7744-01A-11D-2114-08	38364411	77705082	3490128	38	9908											
MUC16	94025	broad.mit.edu	37	chr19	9090433	9090433	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcttgctgtcaagagttgtaAaacctagagtggggaccaag	12	10	12	7	0	2	2	1	0	1	2	2	3	2	3	2	2	2	3	2	2	5	4			TCGA-HC-7744-01A-11D-2114-08	TCGA-HC-7744-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0192d529-7340-45d8-a5f0-249cbb11ca19	12e7e0e3-0619-4659-ac66-f999415ad396	g.chr19:9090433A>T	ENST00000397910.4	-	1	1585	c.1382T>A	c.(1381-1383)tTt>tAt	p.F461Y		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	461	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AAGAGTTGTAAAACCTAGAGT	0.498																																						ENST00000397910.4																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(1381-1383)tTt>tAt		mucin 16, cell surface associated							178	167	171					19																	9090433		1974	4153	6127	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9090433A>T	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.1382T>A	19.37:g.9090433A>T	ENSP00000381008:p.Phe461Tyr						p.F461Y	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			1	1585	-			461			Thr-rich.		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.1382T>A	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	a	5.025	0.190232	0.09547	.	.	ENSG00000181143	ENST00000397910	T	0.02606	4.23	1.54	1.54	0.23209	.	.	.	.	.	T	0.01523	0.0049	N	0.08118	0	.	.	.	P	0.50710	0.938	B	0.38156	0.266	T	0.45760	-0.9239	8	0.87932	D	0	.	5.1773	0.15141	1.0:0.0:0.0:0.0	.	461	B5ME49	.	Y	461	ENSP00000381008:F461Y	ENSP00000381008:F461Y	F	-	2	0	MUC16	8951433	0.000000	0.05858	0.001000	0.08648	0.005000	0.04900	-0.842000	0.04354	0.963000	0.38082	0.260000	0.18958	TTT		0.498	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		6	181	0	0	0	1	0	6	181					T	9090433	A	T	9090433	3	4	215	1	0	0	0	0	1	0	0	0	9973	14	1	5	42477	5	MUC16	19	9090433	Missense_Mutation	SNP	A	TCGA-HC-7744-01A-11D-2114-08		9090433	50038550	39	9909											
ZNF709	163051	broad.mit.edu	37	chr19	12575993	12575993	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tacattcatagggtttctctCcagagtgagttctttcatga	9	16	8	8	0	4	3	2	2	2	1	6	3	5	3	1	1	1	2	1	1	2	6	rs375309574		TCGA-HC-7744-01A-11D-2114-08	TCGA-HC-7744-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0192d529-7340-45d8-a5f0-249cbb11ca19	12e7e0e3-0619-4659-ac66-f999415ad396	g.chr19:12575993C>T	ENST00000397732.3	-	4	914	c.743G>A	c.(742-744)gGa>gAa	p.G248E	ZNF709_ENST00000428311.1_Missense_Mutation_p.G248E|CTD-3105H18.18_ENST00000598753.1_Intron	NM_152601.3	NP_689814.1	Q8N972	ZN709_HUMAN	zinc finger protein 709	248					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			large_intestine(3)|upper_aerodigestive_tract(3)	6						GGGTTTCTCTCCAGAGTGAGT	0.388																																					GBM(33;565 669 12371 29134 51667)	ENST00000397732.3																			0				large_intestine(3)|upper_aerodigestive_tract(3)	6						c.(742-744)gGa>gAa		zinc finger protein 709							69	72	71					19																	12575993		2173	4291	6464	SO:0001583	missense	163051				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12575993C>T	AK095600	CCDS42504.1	19p13.2	2013-01-08			ENSG00000242852	ENSG00000242852		"Zinc fingers, C2H2-type", "-"	20629	protein-coding gene	gene with protein product							Standard	NM_152601		Approved	FLJ38281	uc002mtv.4	Q8N972	OTTHUMG00000156406	ENST00000397732.3:c.743G>A	19.37:g.12575993C>T	ENSP00000380840:p.Gly248Glu					CTD-3105H18.18_ENST00000598753.1_Intron|ZNF709_ENST00000428311.1_Missense_Mutation_p.G248E	p.G248E	NM_152601.3	NP_689814.1	Q8N972	ZN709_HUMAN			4	914	-			248					A8K4E6	Missense_Mutation	SNP	ENST00000397732.3	37	c.743G>A	CCDS42504.1	.	.	.	.	.	.	.	.	.	.	C	23.1	4.369740	0.82573	.	.	ENSG00000242852;ENSG00000196826	ENST00000397732;ENST00000428311	T;T	0.25749	1.78;1.78	2.8	1.76	0.24704	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.287879	0.19503	N	0.112685	T	0.37625	0.1010	L	0.47716	1.5	0.38438	D	0.946638	D	0.71674	0.998	D	0.65987	0.94	T	0.30851	-0.9964	10	0.72032	D	0.01	.	9.2975	0.37824	0.0:0.8816:0.0:0.1184	.	248	Q8N972	ZN709_HUMAN	E	248	ENSP00000380840:G248E;ENSP00000404127:G248E	ENSP00000404127:G248E	G	-	2	0	ZNF709;CTD-2192J16.17	12436993	0.001000	0.12720	0.939000	0.37840	0.815000	0.46073	0.047000	0.14056	0.765000	0.33221	0.467000	0.42956	GGA		0.388	ZNF709-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344088.1	NM_152601		4	53	0	0	0	1	0	4	53					T	12575993	C	T	12575993	3	4	215	1	0	0	0	0	1	0	0	0	18110	855	30	3	1186	3	ZNF709	19	12575993	Missense_Mutation	SNP	C	TCGA-HC-7744-01A-11D-2114-08	3485560	12575993	46552990	40	9910											
KRTAP13-4	284827	broad.mit.edu	37	chr21	31802730	31802730	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cacctgccagctgcgttcctCtctctacagggactgtcaga	7	10	9	15	1	3	1	1	0	2	1	5	2	4	2	3	1	4	2	3	1	1	2	rs558455896		TCGA-HC-7744-01A-11D-2114-08	TCGA-HC-7744-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0192d529-7340-45d8-a5f0-249cbb11ca19	12e7e0e3-0619-4659-ac66-f999415ad396	g.chr21:31802730C>T	ENST00000334068.2	+	1	159	c.137C>T	c.(136-138)tCt>tTt	p.S46F		NM_181600.1	NP_853631.1	Q3LI77	KR134_HUMAN	keratin associated protein 13-4	46	4 X 10 AA approximate repeats.					intermediate filament (GO:0005882)				NS(1)|breast(1)|kidney(1)|large_intestine(2)|lung(9)|skin(1)	15						CTGCGTTCCTCTCTCTACAGG	0.632													-|||	1	0.000199681	0	0	5008	,	,		17795	0.001		0	False		,,,				2504	0				NSCLC(196;2401 3038 18004 35753)	ENST00000334068.2																			0				NS(1)|breast(1)|kidney(1)|large_intestine(2)|lung(9)|skin(1)	15						c.(136-138)tCt>tTt		keratin associated protein 13-4							68	70	69					21																	31802730		2203	4300	6503	SO:0001583	missense	284827					intermediate filament		g.chr21:31802730C>T	AP001708	CCDS13592.1	21q22.1	2006-03-13			ENSG00000186971	ENSG00000186971		"Keratin associated proteins"	18926	protein-coding gene	gene with protein product						12359730	Standard	NM_181600		Approved	KAP13.4	uc011acw.2	Q3LI77	OTTHUMG00000057770	ENST00000334068.2:c.137C>T	21.37:g.31802730C>T	ENSP00000334834:p.Ser46Phe						p.S46F	NM_181600.1	NP_853631.1	Q3LI77	KR134_HUMAN			1	159	+			46			4 X 10 AA approximate repeats.		A2RRL3	Missense_Mutation	SNP	ENST00000334068.2	37	c.137C>T	CCDS13592.1	.	.	.	.	.	.	.	.	.	.	-	13.33	2.204746	0.38905	.	.	ENSG00000186971	ENST00000334068	T	0.03801	3.8	4.95	2.92	0.33932	.	0.331041	0.22033	N	0.065565	T	0.10423	0.0255	M	0.86028	2.79	0.21579	N	0.99964	B	0.26602	0.154	B	0.32677	0.15	T	0.07252	-1.0782	10	0.46703	T	0.11	.	9.4826	0.38911	0.3858:0.6142:0.0:0.0	.	46	Q3LI77	KR134_HUMAN	F	46	ENSP00000334834:S46F	ENSP00000334834:S46F	S	+	2	0	KRTAP13-4	30724601	0.031000	0.19500	0.387000	0.26183	0.145000	0.21501	0.974000	0.29436	1.349000	0.45751	0.650000	0.86243	TCT		0.632	KRTAP13-4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128222.1			40	47	0	0	0	1	0	40	47					T	31802730	C	T	31802730	3	4	215	1	0	0	0	0	1	0	0	0	8525	913	32	3	139	3	KRTAP13-4	21	31802730	Missense_Mutation	SNP	C	TCGA-HC-7744-01A-11D-2114-08		31802730	16327165	41	9911											
BRWD1	54014	broad.mit.edu	37	chr21	40668227	40668227	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	accataattcactggcatttCaggaggtcttcctctatgaa	11	13	7	10	0	4	1	2	1	2	0	5	2	5	2	2	3	0	1	2	3	3	5			TCGA-HC-7744-01A-11D-2114-08	TCGA-HC-7744-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0192d529-7340-45d8-a5f0-249cbb11ca19	12e7e0e3-0619-4659-ac66-f999415ad396	g.chr21:40668227C>T	ENST00000333229.2	-	6	739	c.412G>A	c.(412-414)Gaa>Aaa	p.E138K	BRWD1_ENST00000342449.3_Missense_Mutation_p.E138K|BRWD1_ENST00000470108.1_5'Flank|BRWD1_ENST00000380800.3_Missense_Mutation_p.E138K	NM_018963.4	NP_061836.2	Q9NSI6	BRWD1_HUMAN	bromodomain and WD repeat domain containing 1	138					cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2)	58		Prostate(19;8.44e-08)|all_epithelial(19;0.223)				ACTGGCATTTCAGGAGGTCTT	0.378																																					Melanoma(170;988 1986 4794 16843 39731)	ENST00000342449.3																			0				cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2)	58						c.(412-414)Gaa>Aaa		bromodomain and WD repeat domain containing 1							128	134	132					21																	40668227		2203	4300	6503	SO:0001583	missense	54014				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus		g.chr21:40668227C>T	AJ002572	CCDS13662.1, CCDS13663.1, CCDS33557.1	21q22.2	2013-05-21	2005-05-13	2005-05-13	ENSG00000185658	ENSG00000185658		"WD repeat domain containing"	12760	protein-coding gene	gene with protein product			"chromosome 21 open reading frame 107", "WD repeat domain 9"	C21orf107, WDR9			Standard	NM_033656		Approved	FLJ11315, N143	uc002yxk.2	Q9NSI6	OTTHUMG00000066030	ENST00000333229.2:c.412G>A	21.37:g.40668227C>T	ENSP00000330753:p.Glu138Lys					BRWD1_ENST00000333229.2_Missense_Mutation_p.E138K|BRWD1_ENST00000380800.3_Missense_Mutation_p.E138K	p.E138K	NM_033656.3	NP_387505.1	Q9NSI6	BRWD1_HUMAN			6	490	-		Prostate(19;8.44e-08)|all_epithelial(19;0.223)	138					C9JK25|O43721|Q5R2V0|Q5R2V1|Q6P2D1|Q8TCV3|Q96QG9|Q96QH0|Q9NUK1	Missense_Mutation	SNP	ENST00000333229.2	37	c.412G>A	CCDS13662.1	.	.	.	.	.	.	.	.	.	.	C	32	5.130995	0.94473	.	.	ENSG00000185658	ENST00000333229;ENST00000342449;ENST00000380800	T;T;T	0.28895	1.59;1.59;1.59	5.94	5.94	0.96194	.	0.000000	0.85682	D	0.000000	T	0.62600	0.2441	M	0.83012	2.62	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.83275	0.987;0.996	T	0.64089	-0.6489	10	0.62326	D	0.03	-16.78	20.3736	0.98901	0.0:1.0:0.0:0.0	.	138;138	Q9NSI6-2;Q9NSI6	.;BRWD1_HUMAN	K	138	ENSP00000330753:E138K;ENSP00000344333:E138K;ENSP00000370178:E138K	ENSP00000330753:E138K	E	-	1	0	BRWD1	39590097	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.364000	0.79526	2.820000	0.97059	0.650000	0.86243	GAA		0.378	BRWD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000141398.3	NM_033656		54	31	0	0	0	1	0	54	31					T	40668227	C	T	40668227	3	4	215	1	0	0	0	0	1	0	0	0	1525	835	29	3	6937	3	BRWD1	21	40668227	Missense_Mutation	SNP	C	TCGA-HC-7744-01A-11D-2114-08	8865497	40668227	7461668	42	9912											
RIMBP3	85376	broad.mit.edu	37	chr22	20457106	20457106	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtggggctcaggctccctcCtctcctctcgcctctctgtg	1	13	10	17	1	4	0	1	0	3	0	9	0	6	0	4	3	0	2	4	3	0	0			TCGA-HC-7744-01A-11D-2114-08	TCGA-HC-7744-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0192d529-7340-45d8-a5f0-249cbb11ca19	12e7e0e3-0619-4659-ac66-f999415ad396	g.chr22:20457106C>T	ENST00000426804.1	-	1	4680	c.4196G>A	c.(4195-4197)aGg>aAg	p.R1399K	SCARNA17_ENST00000516762.1_RNA|RN7SKP131_ENST00000363006.1_RNA|SCARNA18_ENST00000516215.1_RNA	NM_015672.1	NP_056487.1	Q9UFD9	RIM3A_HUMAN	RIMS binding protein 3	1399										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	13	Colorectal(54;0.0993)|Melanoma(16;0.165)		LUSC - Lung squamous cell carcinoma(15;0.0405)|Lung(15;0.224)			AGGCTCCCTCCTCTCCTCTCG	0.607																																						ENST00000426804.1																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	13						c.(4195-4197)aGg>aAg		RIMS binding protein 3							60	71	67					22																	20457106		1973	4181	6154	SO:0001583	missense	85376							g.chr22:20457106C>T	AB051453	CCDS46665.1	22q11.21	2014-05-06			ENSG00000196622	ENSG00000275793			29344	protein-coding gene	gene with protein product		612699				11258795, 17855024	Standard	NM_015672		Approved	KIAA1666, RIMBP3.1, RIMBP3A	uc002zsd.4	Q9UFD9	OTTHUMG00000188355	ENST00000426804.1:c.4196G>A	22.37:g.20457106C>T	ENSP00000391564:p.Arg1399Lys						p.R1399K	NM_015672.1	NP_056487.1			LUSC - Lung squamous cell carcinoma(15;0.0405)|Lung(15;0.224)		1	4680	-	Colorectal(54;0.0993)|Melanoma(16;0.165)							Q8IYP7|Q9BY94|Q9UFQ5	Missense_Mutation	SNP	ENST00000426804.1	37	c.4196G>A	CCDS46665.1	.	.	.	.	.	.	.	.	.	.	C	8.325	0.825215	0.16749	.	.	ENSG00000196622	ENST00000355186;ENST00000426804	T	0.17528	2.27	3.58	1.47	0.22746	.	1.879570	0.02516	N	0.092068	T	0.09949	0.0244	N	0.14661	0.345	0.09310	N	1	B	0.10296	0.003	B	0.10450	0.005	T	0.26815	-1.0092	10	0.10377	T	0.69	-4.0304	5.3393	0.15974	0.0:0.7331:0.0:0.2669	.	1305	Q9UFD9	RIM3A_HUMAN	K	1305;1399	ENSP00000391564:R1399K	ENSP00000347318:R1305K	R	-	2	0	RIMBP3	18837106	0.000000	0.05858	0.008000	0.14137	0.043000	0.13939	-0.517000	0.06275	0.860000	0.35481	0.423000	0.28283	AGG		0.607	RIMBP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318945.2	NM_015672		13	78	0	0	0	1	0	13	78					T	20457106	C	T	20457106	3	4	215	1	0	0	0	0	1	0	0	0	13364	681	24	3	727	3	RIMBP3	22	20457106	Missense_Mutation	SNP	C	TCGA-HC-7744-01A-11D-2114-08		20457106	30847460	43	9913											
CERK	64781	broad.mit.edu	37	chr22	47095356	47095356	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aggacacatccatggccagcGagtcccctgtgggagagaac	11	5	13	12	1	0	1	0	0	0	1	2	5	2	3	4	3	2	0	4	3	1	0			TCGA-HC-7744-01A-11D-2114-08	TCGA-HC-7744-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0192d529-7340-45d8-a5f0-249cbb11ca19	12e7e0e3-0619-4659-ac66-f999415ad396	g.chr22:47095356G>A	ENST00000216264.8	-	8	909	c.797C>T	c.(796-798)tCg>tTg	p.S266L	CERK_ENST00000541677.1_Missense_Mutation_p.S68L	NM_022766.5	NP_073603.2	Q8TCT0	CERK1_HUMAN	ceramide kinase	266	DAGKc. {ECO:0000255|PROSITE- ProRule:PRU00783}.				ceramide metabolic process (GO:0006672)|glycosphingolipid metabolic process (GO:0006687)|lipid phosphorylation (GO:0046834)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ceramide kinase activity (GO:0001729)|diacylglycerol kinase activity (GO:0004143)|magnesium ion binding (GO:0000287)|NAD+ kinase activity (GO:0003951)			cervix(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(2)|skin(2)	20		Breast(42;0.00571)|Ovarian(80;0.00965)|all_neural(38;0.0416)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)|BRCA - Breast invasive adenocarcinoma(115;0.171)		CATGGCCAGCGAGTCCCCTGT	0.617																																						ENST00000216264.8																			0				cervix(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(2)|skin(2)	20						c.(796-798)tCg>tTg		ceramide kinase							160	115	130					22																	47095356		2203	4300	6503	SO:0001583	missense	64781				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|ceramide metabolic process	integral to membrane of membrane fraction|membrane|nucleus	ATP binding|ceramide kinase activity|diacylglycerol kinase activity|magnesium ion binding	g.chr22:47095356G>A	AB079066	CCDS14077.1	22q13.31	2008-06-10			ENSG00000100422	ENSG00000100422			19256	protein-coding gene	gene with protein product		610307				11956206, 11258795	Standard	NM_022766		Approved	hCERK, FLJ23239, dA59H18.3, DKFZp434E0211, FLJ21430, KIAA1646, LK4, dA59H18.2	uc003bia.3	Q8TCT0	OTTHUMG00000150395	ENST00000216264.8:c.797C>T	22.37:g.47095356G>A	ENSP00000216264:p.Ser266Leu					CERK_ENST00000541677.1_Missense_Mutation_p.S68L	p.S266L	NM_022766.5	NP_073603.2	Q8TCT0	CERK1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)|BRCA - Breast invasive adenocarcinoma(115;0.171)	8	909	-		Breast(42;0.00571)|Ovarian(80;0.00965)|all_neural(38;0.0416)|Lung SC(80;0.164)	266			DAGKc.		A0JNT4|A8K611|Q6NX59|Q9BYB3|Q9UGE5	Missense_Mutation	SNP	ENST00000216264.8	37	c.797C>T	CCDS14077.1	.	.	.	.	.	.	.	.	.	.	G	16.81	3.225856	0.58668	.	.	ENSG00000100422	ENST00000216264;ENST00000541677	T;T	0.13089	2.62;2.62	4.96	4.96	0.65561	Diacylglycerol kinase, catalytic domain (3);	0.128416	0.53938	D	0.000052	T	0.15219	0.0367	L	0.55017	1.72	0.58432	D	0.999997	P	0.43412	0.806	B	0.43889	0.435	T	0.04294	-1.0962	10	0.09843	T	0.71	-16.039	12.1775	0.54194	0.0:0.2871:0.7129:0.0	.	266	Q8TCT0	CERK1_HUMAN	L	266;68	ENSP00000216264:S266L;ENSP00000438659:S68L	ENSP00000216264:S266L	S	-	2	0	CERK	45474020	1.000000	0.71417	0.999000	0.59377	0.303000	0.27691	5.475000	0.66787	2.301000	0.77427	0.563000	0.77884	TCG		0.617	CERK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317924.2	NM_022766		46	98	0	0	0	1	0	46	98					A	47095356	G	A	47095356	3	1	215	1	0	0	0	0	1	0	0	0	3267	1059	37	2	840	2	CERK	22	47095356	Missense_Mutation	SNP	G	TCGA-HC-7744-01A-11D-2114-08	26638250	47095356	4209210	44	9914											
PCDH11X	27328	broad.mit.edu	37	chrX	91132876	91132876	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	aattctggcaaaagataacgGggtaccacccttaaccagca	15	7	8	11	1	1	1	0	0	1	1	1	1	1	1	3	3	4	3	3	3	6	4			TCGA-HC-7744-01A-11D-2114-08	TCGA-HC-7744-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0192d529-7340-45d8-a5f0-249cbb11ca19	12e7e0e3-0619-4659-ac66-f999415ad396	g.chrX:91132876G>T	ENST00000373094.1	+	2	2482	c.1637G>T	c.(1636-1638)gGg>gTg	p.G546V	PCDH11X_ENST00000373097.1_Missense_Mutation_p.G546V|PCDH11X_ENST00000373088.1_Missense_Mutation_p.G546V|PCDH11X_ENST00000361724.1_Missense_Mutation_p.G546V|PCDH11X_ENST00000406881.1_Missense_Mutation_p.G546V|PCDH11X_ENST00000361655.2_Missense_Mutation_p.G546V|PCDH11X_ENST00000395337.2_Missense_Mutation_p.G546V|PCDH11X_ENST00000298274.8_Missense_Mutation_p.G546V|PCDH11X_ENST00000504220.2_Missense_Mutation_p.G546V	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	546	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|negative regulation of phosphatase activity (GO:0010923)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						AAAGATAACGGGGTACCACCC	0.383																																					NSCLC(38;925 1092 2571 38200 45895)	ENST00000373094.1																			0				NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						c.(1636-1638)gGg>gTg		protocadherin 11 X-linked							97	91	93					X																	91132876		2203	4300	6503	SO:0001583	missense	27328				homophilic cell adhesion	integral to plasma membrane	calcium ion binding	g.chrX:91132876G>T	AB026187	CCDS14461.1, CCDS14462.1, CCDS55458.1, CCDS55459.1, CCDS55460.1, CCDS55461.1	Xq21.3	2014-06-13	2002-05-22	2002-05-24	ENSG00000102290	ENSG00000102290		"Cadherins / Protocadherins : Non-clustered"	8656	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 119"	300246	"protocadherin 11"	PCDH11		10644456	Standard	NM_001168360		Approved	PCDH-X, PCDHX, PPP1R119	uc004efm.2	Q9BZA7	OTTHUMG00000021965	ENST00000373094.1:c.1637G>T	X.37:g.91132876G>T	ENSP00000362186:p.Gly546Val					PCDH11X_ENST00000361724.1_Missense_Mutation_p.G546V|PCDH11X_ENST00000373088.1_Missense_Mutation_p.G546V|PCDH11X_ENST00000395337.2_Missense_Mutation_p.G546V|PCDH11X_ENST00000361655.2_Missense_Mutation_p.G546V|PCDH11X_ENST00000504220.1_Missense_Mutation_p.G546V|PCDH11X_ENST00000373097.1_Missense_Mutation_p.G546V|PCDH11X_ENST00000298274.8_Missense_Mutation_p.G546V|PCDH11X_ENST00000406881.1_Missense_Mutation_p.G546V	p.G546V	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN			2	2482	+			546			Cadherin 5.		A6NIQ4|Q2TJH0|Q2TJH1|Q2TJH3|Q5JVZ0|Q70LR8|Q70LS7|Q70LS8|Q70LS9|Q70LT7|Q70LT8|Q70LT9|Q70LU0|Q70LU1|Q96RV4|Q96RW0|Q9BZA6|Q9H4E0|Q9P2M0|Q9P2X5	Missense_Mutation	SNP	ENST00000373094.1	37	c.1637G>T	CCDS14461.1	.	.	.	.	.	.	.	.	.	.	G	13.55	2.269555	0.40095	.	.	ENSG00000102290	ENST00000395337;ENST00000373094;ENST00000373097;ENST00000361724;ENST00000373088;ENST00000504220;ENST00000361655;ENST00000406881;ENST00000356934;ENST00000298274	T;T;T;T;T;T;T;T;T	0.74737	-0.87;-0.31;-0.31;-0.87;-0.31;-0.87;-0.31;-0.31;-0.31	5.38	5.38	0.77491	Cadherin (5);Cadherin-like (1);	0.000000	0.85682	D	0.000000	D	0.91630	0.7355	H	0.98133	4.155	0.80722	D	1	D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D	0.94793	0.7964	10	0.87932	D	0	.	17.0331	0.86466	0.0:0.0:1.0:0.0	.	546;546;546;546;546;546;546;546	Q9BZA7-6;Q9BZA7-5;Q9BZA7-4;Q9BZA7-8;Q9BZA7-3;Q9BZA7;Q9BZA7-7;Q9BZA7-2	.;.;.;.;.;PC11X_HUMAN;.;.	V	546	ENSP00000378746:G546V;ENSP00000362186:G546V;ENSP00000362189:G546V;ENSP00000355040:G546V;ENSP00000362180:G546V;ENSP00000423762:G546V;ENSP00000355105:G546V;ENSP00000384758:G546V;ENSP00000298274:G546V	ENSP00000298274:G546V	G	+	2	0	PCDH11X	91019532	1.000000	0.71417	0.855000	0.33649	0.329000	0.28539	9.507000	0.97996	2.231000	0.72958	0.544000	0.68410	GGG		0.383	PCDH11X-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057436.1	NM_032969		62	12	1	0	7.91278e-47	1	8.86231e-47	62	12					T	91132876	G	T	91132876	3	4	215	1	0	0	0	0	1	0	0	0	11508	1232	43	5	1643	5	PCDH11X	23	91132876	Missense_Mutation	SNP	G	TCGA-HC-7744-01A-11D-2114-08		91132876	64137684	45	9915											
PRAMEF11	440560	broad.mit.edu	37	chr1	12887686	12887686	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccagcacttgaagtttccaTctcctgtgggaaaatagagg	11	11	10	9	0	1	2	0	1	1	1	4	3	3	3	3	2	1	2	3	2	4	3	rs59802947	byFrequency	TCGA-HC-7745-01A-11D-2114-08	TCGA-HC-7745-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e51da70-984c-491f-a9eb-1bbb34f01a49	fabbba2f-92b0-48b5-be7a-e4c9fc08b795	g.chr1:12887686T>C	ENST00000535591.1	-	3	366	c.171A>G	c.(169-171)agA>agG	p.R57R		NM_001146344.1	NP_001139816.1	O60813	PRA11_HUMAN	PRAME family member 11	57					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)			p.R57R(1)		NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1)	27						GAAGTTTCCATCTCCTGTGGG	0.468													.|||	5	0.000998403	8e-04	0	5008	,	,		21622	0.001		0	False		,,,				2504	0.0031					ENST00000535591.1																			1	Substitution - coding silent(1)	p.R57R(1)	endometrium(1)	NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1)	27						c.(169-171)agA>agG		PRAME family member 11																																				SO:0001819	synonymous_variant	440560							g.chr1:12887686T>C	AL049680	CCDS53268.1	1p36.21	2013-01-17			ENSG00000204513	ENSG00000239810		"-"	14086	protein-coding gene	gene with protein product							Standard	XM_006710645		Approved		uc001auk.2	O60813	OTTHUMG00000001929	ENST00000535591.1:c.171A>G	1.37:g.12887686T>C							p.R57R	NM_001146344.1	NP_001139816.1	O60813	PRA11_HUMAN			3	366	-			57						Silent	SNP	ENST00000535591.1	37	c.171A>G	CCDS53268.1																																																																																				0.468	PRAMEF11-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		XM_496341		3	219	0	0	0	1	0	3	219					C	12887686	T	C	12887686	2	2	216	1	0	0	0	0	0	0	0	1	12427	1432	50	4		4	PRAMEF11	1	12887686	Silent	SNP	T	TCGA-HC-7745-01A-11D-2114-08		12887686	236362935	1	9916											
PTPRF	5792	broad.mit.edu	37	chr1	44071948	44071948	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcaaggcggagaggagcagcGgcggcggcggcggcaggcag	8	0	23	10	6	0	1	0	0	0	1	0	3	0	2	0	9	2	4	0	9	1	0	rs377569778	byFrequency	TCGA-HC-7745-01A-11D-2114-08	TCGA-HC-7745-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e51da70-984c-491f-a9eb-1bbb34f01a49	3cae220e-d1a9-454a-82c3-f381e1b08a26	g.chr1:44071948G>A	ENST00000359947.4	+	20	3861	c.3521G>A	c.(3520-3522)cGg>cAg	p.R1174Q	PTPRF_ENST00000422171.2_Missense_Mutation_p.R522Q|PTPRF_ENST00000438120.1_Missense_Mutation_p.R1165Q|PTPRF_ENST00000372413.3_Missense_Mutation_p.R1165Q|PTPRF_ENST00000496447.1_3'UTR|PTPRF_ENST00000372414.3_Missense_Mutation_p.R1174Q	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F	1174					cell adhesion (GO:0007155)|cell migration (GO:0016477)|negative regulation of receptor binding (GO:1900121)|peptidyl-tyrosine dephosphorylation (GO:0035335)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	heparin binding (GO:0008201)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				GAGGAGCAGCGGCGGCGGCGG	0.632													G|||	2	0.000399361	0.0015	0	5008	,	,		15712	0		0	False		,,,				2504	0					ENST00000359947.4																			0				NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72						c.(3520-3522)cGg>cAg		protein tyrosine phosphatase, receptor type, F		G	GLN/ARG,GLN/ARG	1,4363		0,1,2181	41	52	48		3521,3494	2.1	1	1		48	1,8519		0,1,4259	no	missense,missense	PTPRF	NM_002840.3,NM_130440.2	43,43	0,2,6440	AA,AG,GG		0.0117,0.0229,0.0155	benign,benign	1174/1908,1165/1899	44071948	2,12882	2182	4260	6442	SO:0001583	missense	5792				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity	g.chr1:44071948G>A	Y00815	CCDS489.2, CCDS490.2	1p34	2013-02-11			ENSG00000142949	ENSG00000142949		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	9670	protein-coding gene	gene with protein product		179590		LAR		7558042	Standard	NM_130440		Approved		uc001cjr.3	P10586	OTTHUMG00000007501	ENST00000359947.4:c.3521G>A	1.37:g.44071948G>A	ENSP00000353030:p.Arg1174Gln					PTPRF_ENST00000372413.3_Missense_Mutation_p.R1165Q|PTPRF_ENST00000372414.3_Missense_Mutation_p.R1174Q|PTPRF_ENST00000496447.1_3'UTR|PTPRF_ENST00000422171.2_Missense_Mutation_p.R522Q|PTPRF_ENST00000438120.1_Missense_Mutation_p.R1165Q	p.R1174Q	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN			20	3861	+	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)	1174					D3DPX6|D3DPX7|Q5T021|Q5T022|Q5W9G2|Q86WS0	Missense_Mutation	SNP	ENST00000359947.4	37	c.3521G>A	CCDS489.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.74|15.74	2.921439|2.921439	0.52653|0.52653	2.29E-4|2.29E-4	1.17E-4|1.17E-4	ENSG00000142949|ENSG00000142949	ENST00000429895|ENST00000359947;ENST00000438120;ENST00000372414;ENST00000372413;ENST00000422171;ENST00000372407	.|T;T;T;T;T;T	.|0.56275	.|0.47;0.5;0.47;0.5;2.43;4.11	5.2|5.2	2.08|2.08	0.27032|0.27032	.|.	.|0.281004	.|0.18882	.|N	.|0.128559	T|T	0.37348|0.37348	0.1000|0.1000	L|L	0.44542|0.44542	1.39|1.39	0.45415|0.45415	D|D	0.998395|0.998395	.|P;B;B;D;D	.|0.56521	.|0.782;0.051;0.218;0.976;0.963	.|B;B;B;B;B	.|0.41619	.|0.203;0.014;0.063;0.32;0.361	T|T	0.15549|0.15549	-1.0433|-1.0433	5|10	.|0.15952	.|T	.|0.53	.|.	7.092|7.092	0.25289|0.25289	0.0705:0.1205:0.6755:0.1334|0.0705:0.1205:0.6755:0.1334	.|.	.|819;522;740;1165;1174	.|Q59FI2;F2Z3B8;Q5W9G3;P10586-2;P10586	.|.;.;.;.;PTPRF_HUMAN	S|Q	820|1174;1165;1174;1165;522;235	.|ENSP00000353030:R1174Q;ENSP00000398822:R1165Q;ENSP00000361491:R1174Q;ENSP00000361490:R1165Q;ENSP00000387885:R522Q;ENSP00000361484:R235Q	.|ENSP00000353030:R1174Q	G|R	+|+	1|2	0|0	PTPRF|PTPRF	43844535|43844535	0.983000|0.983000	0.35010|0.35010	0.985000|0.985000	0.45067|0.45067	0.858000|0.858000	0.48976|0.48976	0.421000|0.421000	0.21280|0.21280	0.684000|0.684000	0.31448|0.31448	0.561000|0.561000	0.74099|0.74099	GGC|CGG		0.632	PTPRF-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000019710.1			4	92	0	0	0	1	0	4	92					A	44071948	G	A	44071948	3	1	216	1	0	0	0	0	1	0	0	0	12801	1116	39	2	3591	2	PTPRF	1	44071948	Missense_Mutation	SNP	G	TCGA-HC-7745-01A-11D-2114-08	31184262	44071948	205178673	2	9917											
PHTF1	10745	broad.mit.edu	37	chr1	114256026	114256026	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggtcattgtcagtttcagTccctttgttagatattaatt	8	19	8	6	0	3	1	3	0	0	1	4	1	4	1	1	1	0	2	1	1	3	7			TCGA-HC-7745-01A-11D-2114-08	TCGA-HC-7745-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e51da70-984c-491f-a9eb-1bbb34f01a49	fabbba2f-92b0-48b5-be7a-e4c9fc08b795	g.chr1:114256026T>C	ENST00000369604.1	-	8	1141	c.658A>G	c.(658-660)Act>Gct	p.T220A	PHTF1_ENST00000369598.1_Missense_Mutation_p.T175A|PHTF1_ENST00000447664.2_Intron|PHTF1_ENST00000393357.2_Missense_Mutation_p.T220A|PHTF1_ENST00000369596.2_Missense_Mutation_p.T167A|PHTF1_ENST00000357783.2_Missense_Mutation_p.T220A|PHTF1_ENST00000474926.1_5'UTR|PHTF1_ENST00000369600.1_Missense_Mutation_p.T167A			Q9UMS5	PHTF1_HUMAN	putative homeodomain transcription factor 1	220					transcription, DNA-templated (GO:0006351)	cis-Golgi network (GO:0005801)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27	Lung SC(450;0.184)	all_cancers(81;3.78e-08)|all_epithelial(167;5.56e-08)|all_lung(203;6.97e-06)|Lung NSC(69;1.18e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TCAGTTTCAGTCCCTTTGTTA	0.318																																						ENST00000369604.1																			0				breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27						c.(658-660)Act>Gct		putative homeodomain transcription factor 1							117	114	115					1																	114256026		2202	4300	6502	SO:0001583	missense	10745					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr1:114256026T>C	AJ011863	CCDS861.1	1p13-p11	2008-07-18			ENSG00000116793	ENSG00000116793			8939	protein-coding gene	gene with protein product		604950		PHTF		10395808	Standard	NM_006608		Approved		uc009wgp.1	Q9UMS5	OTTHUMG00000011800	ENST00000369604.1:c.658A>G	1.37:g.114256026T>C	ENSP00000358617:p.Thr220Ala					PHTF1_ENST00000447664.2_Intron|PHTF1_ENST00000369596.2_Missense_Mutation_p.T167A|PHTF1_ENST00000393357.2_Missense_Mutation_p.T220A|PHTF1_ENST00000369598.1_Missense_Mutation_p.T175A|PHTF1_ENST00000357783.2_Missense_Mutation_p.T220A|PHTF1_ENST00000474926.1_5'UTR|PHTF1_ENST00000369600.1_Missense_Mutation_p.T167A	p.T220A			Q9UMS5	PHTF1_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	8	1141	-	Lung SC(450;0.184)	all_cancers(81;3.78e-08)|all_epithelial(167;5.56e-08)|all_lung(203;6.97e-06)|Lung NSC(69;1.18e-05)	220					Q5VWP7|Q5VWP8|Q9BUP2|Q9H1X8	Missense_Mutation	SNP	ENST00000369604.1	37	c.658A>G	CCDS861.1	.	.	.	.	.	.	.	.	.	.	T	13.15	2.152037	0.38021	.	.	ENSG00000116793	ENST00000369597;ENST00000393357;ENST00000369596;ENST00000369598;ENST00000369600;ENST00000369604;ENST00000357783	.	.	.	5.55	4.42	0.53409	.	0.393724	0.26103	N	0.026331	T	0.12603	0.0306	N	0.24115	0.695	0.22253	N	0.999254	B;B;B	0.11235	0.004;0.0;0.003	B;B;B	0.16289	0.009;0.003;0.015	T	0.06180	-1.0841	9	0.38643	T	0.18	-19.4979	8.6126	0.33811	0.0:0.1484:0.0:0.8516	.	175;220;220	F5H7M5;Q9UMS5;Q9UMS5-2	.;PHTF1_HUMAN;.	A	175;220;167;175;167;220;220	.	ENSP00000350428:T220A	T	-	1	0	PHTF1	114057549	0.947000	0.32204	0.904000	0.35570	0.941000	0.58515	1.978000	0.40598	2.120000	0.65058	0.383000	0.25322	ACT		0.318	PHTF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032666.1	NM_006608		3	24	0	0	0	1	0	3	24					C	114256026	T	C	114256026	3	2	216	1	0	0	0	0	1	0	0	0	11862	1667	58	4	1678	4	PHTF1	1	114256026	Missense_Mutation	SNP	T	TCGA-HC-7745-01A-11D-2114-08	70184078	114256026	134994595	3	9918											
FLG	2312	broad.mit.edu	37	chr1	152282808	152282808	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggggtgtggtgtggctgtgAtggtaccctgagtgtccaga	5	12	18	6	0	0	3	0	2	0	1	1	3	1	3	2	5	1	2	2	5	1	1			TCGA-HC-7745-01A-11D-2114-08	TCGA-HC-7745-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e51da70-984c-491f-a9eb-1bbb34f01a49	fabbba2f-92b0-48b5-be7a-e4c9fc08b795	g.chr1:152282808A>G	ENST00000368799.1	-	3	4589	c.4554T>C	c.(4552-4554)caT>caC	p.H1518H	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1518	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGTGGCTGTGATGGTACCCTG	0.562									Ichthyosis																													ENST00000368799.1																			0				autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424						c.(4552-4554)caT>caC		filaggrin							320	306	311					1																	152282808		2203	4300	6503	SO:0001819	synonymous_variant	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152282808A>G	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"EF-hand domain containing"	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.4554T>C	1.37:g.152282808A>G						FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	p.H1518H	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	4589	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1518			Ser-rich.		Q01720|Q5T583|Q9UC71	Silent	SNP	ENST00000368799.1	37	c.4554T>C	CCDS30860.1																																																																																				0.562	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		62	383	0	0	0	1	0	62	383					G	152282808	A	G	152282808	2	3	216	1	0	0	0	0	0	0	0	1	5922	330	12	4		4	FLG	1	152282808	Silent	SNP	A	TCGA-HC-7745-01A-11D-2114-08	38026782	152282808	96967813	4	9919											
OR10J1	26476	broad.mit.edu	37	chr1	159410187	159410187	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcctgactttgattatcagTgtgctggtgcttgttgtacc	6	17	10	8	0	1	2	1	2	0	0	2	2	2	2	2	1	3	4	2	1	2	5			TCGA-HC-7745-01A-11D-2114-08	TCGA-HC-7745-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e51da70-984c-491f-a9eb-1bbb34f01a49	fabbba2f-92b0-48b5-be7a-e4c9fc08b795	g.chr1:159410187T>G	ENST00000423932.3	+	1	676	c.639T>G	c.(637-639)agT>agG	p.S213R	RP11-550P17.5_ENST00000431862.1_RNA	NM_012351.2	NP_036483.2	P30954	O10J1_HUMAN	olfactory receptor, family 10, subfamily J, member 1	213					G-protein coupled receptor signaling pathway (GO:0007186)|sensory perception of chemical stimulus (GO:0007606)|single fertilization (GO:0007338)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|stomach(1)	25	all_hematologic(112;0.0429)					TGATTATCAGTGTGCTGGTGC	0.458																																						ENST00000423932.3																			0				endometrium(2)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|stomach(1)	25						c.(637-639)agT>agG		olfactory receptor, family 10, subfamily J, member 1							274	250	258					1																	159410187		2203	4300	6503	SO:0001583	missense	26476				sensory perception of smell|single fertilization	integral to plasma membrane	olfactory receptor activity	g.chr1:159410187T>G	X64995	CCDS1185.1	1q23.2	2012-08-09			ENSG00000196184	ENSG00000196184		"GPCR / Class A : Olfactory receptors"	8175	protein-coding gene	gene with protein product						1370859	Standard	NM_012351		Approved	HGMP07J, HSHGMP07J	uc010piv.2	P30954	OTTHUMG00000022737	ENST00000423932.3:c.639T>G	1.37:g.159410187T>G	ENSP00000399078:p.Ser213Arg					RP11-550P17.5_ENST00000431862.1_RNA	p.S213R	NM_012351.2	NP_036483.2	P30954	O10J1_HUMAN			1	676	+	all_hematologic(112;0.0429)		213					Q2M1M8|Q5VSV1|Q6IET5|Q96R56	Missense_Mutation	SNP	ENST00000423932.3	37	c.639T>G	CCDS1185.1	.	.	.	.	.	.	.	.	.	.	T	13.74	2.328331	0.41197	.	.	ENSG00000196184	ENST00000423932	T	0.39229	1.09	4.42	-4.33	0.03677	GPCR, rhodopsin-like superfamily (1);	0.000000	0.48767	D	0.000180	T	0.26268	0.0641	M	0.78344	2.41	0.09310	N	1	P	0.35944	0.529	B	0.44163	0.443	T	0.41893	-0.9483	10	0.72032	D	0.01	.	6.5945	0.22666	0.0:0.4104:0.2659:0.3237	.	213	P30954	O10J1_HUMAN	R	213	ENSP00000399078:S213R	ENSP00000399078:S213R	S	+	3	2	OR10J1	157676811	0.000000	0.05858	0.000000	0.03702	0.914000	0.54420	-0.449000	0.06812	-1.015000	0.03375	-0.280000	0.10049	AGT		0.458	OR10J1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059020.1	NM_012351		20	106	0	0	0	1	0	20	106					G	159410187	T	G	159410187	3	3	216	1	0	0	0	0	1	0	0	0	10910	1693	59	5	641	5	OR10J1	1	159410187	Missense_Mutation	SNP	T	TCGA-HC-7745-01A-11D-2114-08	7127379	159410187	89840434	5	9920											
EXOC8	149371	broad.mit.edu	37	chr1	231471575	231471575	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctctccaaaagtaccatgtgCagctctgggaaatacagctt	12	10	8	11	0	2	0	0	0	2	0	3	1	2	1	2	1	5	4	2	1	5	3			TCGA-HC-7745-01A-11D-2114-08	TCGA-HC-7745-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e51da70-984c-491f-a9eb-1bbb34f01a49	fabbba2f-92b0-48b5-be7a-e4c9fc08b795	g.chr1:231471575C>T	ENST00000360394.2	-	1	2003	c.1917G>A	c.(1915-1917)ctG>ctA	p.L639L	SPRTN_ENST00000295050.7_5'Flank|SPRTN_ENST00000391858.4_5'Flank|SPRTN_ENST00000008440.9_5'Flank|EXOC8_ENST00000366645.1_Silent_p.L635L	NM_175876.3	NP_787072.2	Q8IYI6	EXOC8_HUMAN	exocyst complex component 8	639					cellular protein localization (GO:0034613)|cellular protein metabolic process (GO:0044267)|exocytosis (GO:0006887)|membrane organization (GO:0061024)|protein transport (GO:0015031)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|exocyst (GO:0000145)|membrane (GO:0016020)|plasma membrane (GO:0005886)				cervix(2)|endometrium(1)|large_intestine(2)|liver(1)|lung(5)|prostate(1)|skin(1)|stomach(1)	14	Breast(184;0.0871)	all_cancers(173;0.151)|Prostate(94;0.183)				GTACCATGTGCAGCTCTGGGA	0.478																																						ENST00000366645.1																			0				cervix(2)|endometrium(1)|large_intestine(2)|liver(1)|lung(5)|prostate(1)|skin(1)|stomach(1)	14						c.(1903-1905)ctG>ctA		exocyst complex component 8							99	104	102					1																	231471575		2203	4300	6503	SO:0001819	synonymous_variant	149371				exocytosis|protein transport	growth cone|nucleus	protein binding	g.chr1:231471575C>T	AL117352	CCDS1593.1	1q42.2	2013-01-22			ENSG00000116903	ENSG00000116903			24659	protein-coding gene	gene with protein product		615283				12477932	Standard	NM_175876		Approved	SEC84, EXO84, Exo84p	uc001huq.3	Q8IYI6	OTTHUMG00000038025	ENST00000360394.2:c.1917G>A	1.37:g.231471575C>T						EXOC8_ENST00000360394.2_Silent_p.L639L	p.L635L			Q8IYI6	EXOC8_HUMAN			1	2023	-	Breast(184;0.0871)	all_cancers(173;0.151)|Prostate(94;0.183)	639					B3KU33|Q5TE82	Silent	SNP	ENST00000360394.2	37	c.1905G>A	CCDS1593.1																																																																																				0.478	EXOC8-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_175876		13	77	0	0	0	1	0	13	77					T	231471575	C	T	231471575	2	4	216	1	0	0	0	0	0	0	0	1	5311	697	25	3		3	EXOC8	1	231471575	Silent	SNP	C	TCGA-HC-7745-01A-11D-2114-08	72061388	231471575	17779046	6	9921											
HEATR1	55127	broad.mit.edu	37	chr1	236749185	236749185	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caacaactcaatcatcttctGatttgctacaccgattagtt	12	14	4	11	1	4	1	2	1	2	0	4	2	4	1	1	0	4	2	1	0	5	5			TCGA-HC-7745-01A-11D-2114-08	TCGA-HC-7745-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e51da70-984c-491f-a9eb-1bbb34f01a49	fabbba2f-92b0-48b5-be7a-e4c9fc08b795	g.chr1:236749185G>T	ENST00000366582.3	-	16	2098	c.1984C>A	c.(1984-1986)Cag>Aag	p.Q662K	HEATR1_ENST00000366581.2_Missense_Mutation_p.Q662K	NM_018072.5	NP_060542.4	Q9H583	HEAT1_HUMAN	HEAT repeat containing 1	662					rRNA processing (GO:0006364)	membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	87	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			ATCATCTTCTGATTTGCTACA	0.363																																						ENST00000366582.3																			0				NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	87						c.(1984-1986)Cag>Aag		HEAT repeat containing 1							106	98	101					1																	236749185		2203	4300	6503	SO:0001583	missense	55127				rRNA processing	nucleolus|ribonucleoprotein complex	protein binding	g.chr1:236749185G>T	BC065205	CCDS31066.1	1q43	2011-08-12			ENSG00000119285	ENSG00000119285			25517	protein-coding gene	gene with protein product	"UTP10, small subunit (SSU) processome component, homolog (yeast)"					17699751	Standard	NM_018072		Approved	FLJ10359, BAP28, UTP10	uc001hyd.2	Q9H583	OTTHUMG00000040061	ENST00000366582.3:c.1984C>A	1.37:g.236749185G>T	ENSP00000355541:p.Gln662Lys					HEATR1_ENST00000366581.2_Missense_Mutation_p.Q662K	p.Q662K	NM_018072.5	NP_060542.4	Q9H583	HEAT1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00117)		16	2098	-	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	662					Q5T3Q8|Q6P197|Q9NW23	Missense_Mutation	SNP	ENST00000366582.3	37	c.1984C>A	CCDS31066.1	.	.	.	.	.	.	.	.	.	.	G	10.52	1.374420	0.24857	.	.	ENSG00000119285	ENST00000366582;ENST00000366581	T;T	0.64803	-0.12;0.91	5.76	2.7	0.31948	Armadillo-type fold (1);	0.402163	0.28589	N	0.014820	T	0.48132	0.1483	L	0.39898	1.24	0.58432	D	0.999999	B	0.02656	0.0	B	0.04013	0.001	T	0.31724	-0.9933	10	0.20519	T	0.43	.	9.7761	0.40621	0.0:0.277:0.3145:0.4085	.	662	Q9H583	HEAT1_HUMAN	K	662	ENSP00000355541:Q662K;ENSP00000355540:Q662K	ENSP00000355540:Q662K	Q	-	1	0	HEATR1	234815808	0.980000	0.34600	1.000000	0.80357	0.783000	0.44284	-0.015000	0.12634	0.751000	0.32900	-0.230000	0.12252	CAG		0.363	HEATR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096635.1	XM_375853		3	43	1	0	1	1	1	3	43					T	236749185	G	T	236749185	3	4	216	1	0	0	0	0	1	0	0	0	7027	1299	45	5	4570	5	HEATR1	1	236749185	Missense_Mutation	SNP	G	TCGA-HC-7745-01A-11D-2114-08	5277610	236749185	12501436	7	9922											
MYO7B	4648	broad.mit.edu	37	chr2	128351136	128351136	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcagctgcaaggcaagctcCgccagatgaccctgggcatc	9	5	13	14	1	0	2	0	1	0	1	2	2	1	2	3	3	3	6	3	3	2	0	rs375115392		TCGA-HC-7745-01A-11D-2114-08	TCGA-HC-7745-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e51da70-984c-491f-a9eb-1bbb34f01a49	fabbba2f-92b0-48b5-be7a-e4c9fc08b795	g.chr2:128351136C>T	ENST00000409816.2	+	17	2193	c.2161C>T	c.(2161-2163)Cgc>Tgc	p.R721C	MYO7B_ENST00000389524.4_Missense_Mutation_p.R721C|MYO7B_ENST00000428314.1_Missense_Mutation_p.R721C			Q6PIF6	MYO7B_HUMAN	myosin VIIB	721	Myosin motor.					extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		AGGCAAGCTCCGCCAGATGAC	0.612																																						ENST00000389524.4																			0				breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75						c.(2161-2163)Cgc>Tgc		myosin VIIB		C	CYS/ARG	0,3886		0,0,1943	76	84	81		2161	4.8	0.1	2		81	1,8265		0,1,4132	no	missense	MYO7B	NM_001080527.1	180	0,1,6075	TT,TC,CC		0.0121,0.0,0.0082	probably-damaging	721/2117	128351136	1,12151	1943	4133	6076	SO:0001583	missense	4648					apical plasma membrane|myosin complex	actin binding|ATP binding|motor activity	g.chr2:128351136C>T		CCDS46405.1	2q21.1	2011-09-27			ENSG00000169994	ENSG00000169994		"Myosins / Myosin superfamily : Class VII"	7607	protein-coding gene	gene with protein product		606541				8022818, 8884266	Standard	NM_001080527		Approved		uc002top.3	Q6PIF6	OTTHUMG00000153419	ENST00000409816.2:c.2161C>T	2.37:g.128351136C>T	ENSP00000386461:p.Arg721Cys					MYO7B_ENST00000409816.2_Missense_Mutation_p.R721C|MYO7B_ENST00000428314.1_Missense_Mutation_p.R721C	p.R721C			Q6PIF6	MYO7B_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0753)	18	2214	+	Colorectal(110;0.1)		721			Myosin head-like.		Q14786|Q8TEE1	Missense_Mutation	SNP	ENST00000409816.2	37	c.2161C>T	CCDS46405.1	.	.	.	.	.	.	.	.	.	.	C	9.908	1.208658	0.22205	0.0	1.21E-4	ENSG00000169994	ENST00000389524;ENST00000428314;ENST00000409816	D;D;D	0.87887	-2.31;-2.31;-2.31	4.78	4.78	0.61160	Myosin head, motor domain (2);	0.166550	0.43579	D	0.000545	D	0.95188	0.8440	H	0.96662	3.86	0.24255	N	0.995306	D	0.76494	0.999	P	0.60345	0.873	D	0.90146	0.4217	10	0.72032	D	0.01	.	17.1558	0.86791	0.0:1.0:0.0:0.0	.	721	Q6PIF6	MYO7B_HUMAN	C	721	ENSP00000374175:R721C;ENSP00000415090:R721C;ENSP00000386461:R721C	ENSP00000374175:R721C	R	+	1	0	MYO7B	128067606	0.336000	0.24757	0.125000	0.21846	0.048000	0.14542	3.597000	0.54031	2.372000	0.80975	0.561000	0.74099	CGC		0.612	MYO7B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000331124.3	XM_291001		3	115	0	0	0	1	0	3	115					T	128351136	C	T	128351136	3	4	216	1	0	0	0	0	1	0	0	0	10083	652	23	2	2227	2	MYO7B	2	128351136	Missense_Mutation	SNP	C	TCGA-HC-7745-01A-11D-2114-08		128351136	114848237	8	9923											
CSRNP3	80034	broad.mit.edu	37	chr2	166514412	166514412	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caccctggggatgtccagccGccataacagcgtgcgccagt	8	6	12	15	3	0	0	0	0	0	0	1	1	1	1	5	2	4	0	5	2	1	1			TCGA-HC-7745-01A-11D-2114-08	TCGA-HC-7745-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e51da70-984c-491f-a9eb-1bbb34f01a49	fabbba2f-92b0-48b5-be7a-e4c9fc08b795	g.chr2:166514412G>A	ENST00000342316.4	+	3	562	c.290G>A	c.(289-291)cGc>cAc	p.R97H	CSRNP3_ENST00000314499.7_Missense_Mutation_p.R97H|CSRNP3_ENST00000409420.1_Missense_Mutation_p.R129H	NM_024969.3	NP_079245.2	Q8WYN3	CSRN3_HUMAN	cysteine-serine-rich nuclear protein 3	97					apoptotic process (GO:0006915)|negative regulation of phosphatase activity (GO:0010923)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R97H(1)		breast(2)|cervix(1)|endometrium(1)|large_intestine(9)|lung(15)|ovary(3)|skin(2)	33						ATGTCCAGCCGCCATAACAGC	0.547																																						ENST00000314499.7																			1	Substitution - Missense(1)	p.R97H(1)	ovary(1)	breast(2)|cervix(1)|endometrium(1)|large_intestine(9)|lung(15)|ovary(3)|skin(2)	33						c.(289-291)cGc>cAc		cysteine-serine-rich nuclear protein 3							55	48	50					2																	166514412		2203	4300	6503	SO:0001583	missense	80034				apoptosis|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:166514412G>A	AB063300	CCDS2225.1	2q24.3	2012-04-17	2009-01-07	2009-01-07	ENSG00000178662	ENSG00000178662		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	30729	protein-coding gene	gene with protein product	"TGF beta induced apotosis protein 2", "protein phosphatase 1, regulatory subunit 73"		"family with sequence similarity 130, member A2"	FAM130A2		17726538	Standard	NM_024969		Approved	FLJ32093, TAIP-2, PPP1R73	uc002udg.3	Q8WYN3	OTTHUMG00000132145	ENST00000342316.4:c.290G>A	2.37:g.166514412G>A	ENSP00000344042:p.Arg97His					CSRNP3_ENST00000342316.4_Missense_Mutation_p.R97H|CSRNP3_ENST00000409420.1_Missense_Mutation_p.R129H	p.R97H	NM_001172173.1	NP_001165644.1	Q8WYN3	CSRN3_HUMAN			5	666	+			97					B3KPR4|Q53SG0|Q6ZTX3|Q9HAF9	Missense_Mutation	SNP	ENST00000342316.4	37	c.290G>A	CCDS2225.1	.	.	.	.	.	.	.	.	.	.	G	33	5.276723	0.95459	.	.	ENSG00000178662	ENST00000421875;ENST00000431452;ENST00000314499;ENST00000409664;ENST00000342316;ENST00000409420	T;T;T;T;T	0.15256	2.44;2.44;2.44;2.44;2.44	5.25	5.25	0.73442	.	0.000000	0.85682	D	0.000000	T	0.28499	0.0705	N	0.16790	0.44	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.08785	-1.0705	10	0.40728	T	0.16	-18.4594	19.2061	0.93730	0.0:0.0:1.0:0.0	.	97	Q8WYN3	CSRN3_HUMAN	H	97;104;97;97;97;129	ENSP00000412081:R97H;ENSP00000318258:R97H;ENSP00000386278:R97H;ENSP00000344042:R97H;ENSP00000387195:R129H	ENSP00000318258:R97H	R	+	2	0	CSRNP3	166222658	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.620000	0.74224	2.604000	0.88044	0.563000	0.77884	CGC		0.547	CSRNP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255191.2	NM_024969		3	46	0	0	0	1	0	3	46					A	166514412	G	A	166514412	3	1	216	1	0	0	0	0	1	0	0	0	3965	1087	38	1	296	1	CSRNP3	2	166514412	Missense_Mutation	SNP	G	TCGA-HC-7745-01A-11D-2114-08	38163276	166514412	76684961	9	9924											
QRICH1	54870	broad.mit.edu	37	chr3	49094329	49094329	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagttgctgctgctgctgcTgtggtggtggtgtctgttcc	1	15	17	8	0	1	0	0	0	1	0	2	1	2	1	1	4	5	7	1	4	0	2			TCGA-HC-7745-01A-11D-2114-08	TCGA-HC-7745-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e51da70-984c-491f-a9eb-1bbb34f01a49	fabbba2f-92b0-48b5-be7a-e4c9fc08b795	g.chr3:49094329T>G	ENST00000395443.2	-	3	1776	c.1304A>C	c.(1303-1305)cAg>cCg	p.Q435P	QRICH1_ENST00000479449.1_5'UTR|QRICH1_ENST00000424300.1_Missense_Mutation_p.Q435P|QRICH1_ENST00000357496.2_Missense_Mutation_p.Q435P	NM_198880.1	NP_942581.1	Q2TAL8	QRIC1_HUMAN	glutamine-rich 1	435	Gln-rich.					nucleus (GO:0005634)				breast(2)|endometrium(5)|large_intestine(8)|lung(8)|ovary(1)|skin(1)	25				BRCA - Breast invasive adenocarcinoma(193;8.88e-05)|Kidney(197;0.00239)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)		ctgctgctgctgtggtggtgg	0.562																																						ENST00000395443.2																			0				breast(2)|endometrium(5)|large_intestine(8)|lung(8)|ovary(1)|skin(1)	25						c.(1303-1305)cAg>cCg		glutamine-rich 1							56	59	58					3																	49094329		2203	4300	6503	SO:0001583	missense	54870							g.chr3:49094329T>G		CCDS2787.1	3p21.31	2011-06-03			ENSG00000198218	ENSG00000198218			24713	protein-coding gene	gene with protein product						12477932	Standard	NM_017730		Approved	FLJ20259	uc003cvv.3	Q2TAL8	OTTHUMG00000156772	ENST00000395443.2:c.1304A>C	3.37:g.49094329T>G	ENSP00000378830:p.Gln435Pro					QRICH1_ENST00000357496.2_Missense_Mutation_p.Q435P|QRICH1_ENST00000479449.1_5'UTR|QRICH1_ENST00000424300.1_Missense_Mutation_p.Q435P	p.Q435P	NM_198880.1	NP_942581.1	Q2TAL8	QRIC1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.88e-05)|Kidney(197;0.00239)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)	3	1776	-			435			Gln-rich.		Q4G0F7|Q7L621|Q8TEA5	Missense_Mutation	SNP	ENST00000395443.2	37	c.1304A>C	CCDS2787.1	.	.	.	.	.	.	.	.	.	.	T	5.645	0.303697	0.10678	.	.	ENSG00000198218	ENST00000395443;ENST00000357496;ENST00000424300	.	.	.	5.43	1.78	0.24846	.	0.841724	0.11273	N	0.581264	T	0.28333	0.0700	N	0.08118	0	0.30548	N	0.765714	B	0.02656	0.0	B	0.01281	0.0	T	0.19679	-1.0298	9	0.28530	T	0.3	-0.0185	13.1216	0.59329	0.0:0.0:0.2998:0.7002	.	435	Q2TAL8	QRIC1_HUMAN	P	435	.	ENSP00000350094:Q435P	Q	-	2	0	QRICH1	49069333	0.520000	0.26250	0.659000	0.29680	0.912000	0.54170	0.726000	0.25984	0.069000	0.16605	0.533000	0.62120	CAG		0.562	QRICH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345669.1	NM_017730		3	66	0	0	0	1	0	3	66					G	49094329	T	G	49094329	3	3	216	1	0	0	0	0	1	0	0	0	12879	1580	55	5	1058	5	QRICH1	3	49094329	Missense_Mutation	SNP	T	TCGA-HC-7745-01A-11D-2114-08		49094329	148928101	10	9925											
SLC25A26	26018	broad.mit.edu	37	chr3	66428192	66428192	+	IGR	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgggggcttatgaccgaacGcacagcttgctgttggaagt	8	10	14	9	2	0	1	0	1	0	0	0	3	0	2	1	3	3	5	1	3	3	3	rs147162139		TCGA-HC-7745-01A-11D-2114-08	TCGA-HC-7745-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e51da70-984c-491f-a9eb-1bbb34f01a49	fabbba2f-92b0-48b5-be7a-e4c9fc08b795	g.chr3:66428192G>A	ENST00000273261.3	-	0	5273				SLC25A26_ENST00000336733.6_Silent_p.T174T|SLC25A26_ENST00000413054.1_3'UTR|SLC25A26_ENST00000354883.6_Silent_p.T262T|LRIG1_ENST00000496559.2_5'Flank|SLC25A26_ENST00000536651.1_3'UTR	NM_015541.2	NP_056356.2	Q96JA1	LRIG1_HUMAN	leucine-rich repeats and immunoglobulin-like domains 1						innervation (GO:0060384)|otolith morphogenesis (GO:0032474)|sensory perception of sound (GO:0007605)	integral component of membrane (GO:0016021)				NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(4)|stomach(4)|urinary_tract(1)	42		Lung NSC(201;0.0101)		BRCA - Breast invasive adenocarcinoma(55;0.00047)		ATGACCGAACGCACAGCTTGC	0.502																																						ENST00000354883.6																			0				endometrium(1)|large_intestine(1)|lung(2)|pancreas(1)|stomach(2)|urinary_tract(1)	8						c.(784-786)acG>acA		solute carrier family 25 (S-adenosylmethionine carrier), member 26		G	,	0,4406		0,0,2203	141	140	140		522,786	-12.1	0	3	dbSNP_134	140	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	SLC25A26	NM_001164796.1,NM_173471.3	,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,	174/187,262/275	66428192	1,13005	2203	4300	6503	SO:0001628	intergenic_variant	115286					integral to membrane|mitochondrial inner membrane|nucleus	S-adenosylmethionine transmembrane transporter activity	g.chr3:66428192G>A	AB050468	CCDS33783.1	3p14	2013-01-14			ENSG00000144749	ENSG00000144749		"Immunoglobulin superfamily / I-set domain containing"	17360	protein-coding gene	gene with protein product	"ortholog of mouse integral membrane glycoprotein LIG-1", "leucine-rich repeat protein LRIG1"	608868				11414704, 12234026	Standard	NM_015541		Approved	LIG-1, DKFZP586O1624, LIG1	uc003dmx.3	Q96JA1	OTTHUMG00000158727		3.37:g.66428192G>A						SLC25A26_ENST00000336733.5_Silent_p.T174T|SLC25A26_ENST00000536651.1_3'UTR	p.T262T			Q70HW3	SAMC_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.00046)|KIRC - Kidney renal clear cell carcinoma(15;0.0515)|Kidney(15;0.0648)	11	1514	+		Lung NSC(201;0.00774)	262					Q6IQ51|Q96CF9|Q9BYB8|Q9UFI4	Silent	SNP	ENST00000273261.3	37	c.786G>A	CCDS33783.1																																																																																				0.502	LRIG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351930.1	NM_015541		4	198	0	0	0	1	0	4	198					A	66428192	G	A	66428192	1	1	216	0	1	0	0	0	0	0	0	0	14489	1074	38	1		1	SLC25A26	3	66428192	IGR	SNP	G	TCGA-HC-7745-01A-11D-2114-08	17333863	66428192	131594238	11	9926											
WDR49	151790	broad.mit.edu	37	chr3	167277926	167277926	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggccatagtgctgatttctgCgttgccgtggcaaccagtaa	8	11	12	10	2	1	1	0	1	1	0	1	1	1	1	3	2	4	4	3	2	3	4			TCGA-HC-7745-01A-11D-2114-08	TCGA-HC-7745-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e51da70-984c-491f-a9eb-1bbb34f01a49	fabbba2f-92b0-48b5-be7a-e4c9fc08b795	g.chr3:167277926C>T	ENST00000308378.3	-	5	882	c.577G>A	c.(577-579)Gca>Aca	p.A193T	WDR49_ENST00000479765.1_Intron|WDR49_ENST00000476376.1_Missense_Mutation_p.A18T|WDR49_ENST00000453925.2_Missense_Mutation_p.A246T	NM_178824.3	NP_849146.1	Q8IV35	WDR49_HUMAN	WD repeat domain 49	193										breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	50						CTGATTTCTGCGTTGCCGTGG	0.453																																						ENST00000308378.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	50						c.(577-579)Gca>Aca		WD repeat domain 49							166	150	156					3																	167277926		2203	4300	6503	SO:0001583	missense	151790							g.chr3:167277926C>T	AK097556	CCDS3201.1	3q26.1	2013-01-11			ENSG00000174776	ENSG00000174776		"WD repeat domain containing"	26587	protein-coding gene	gene with protein product						12477932	Standard	NM_178824		Approved	FLJ33620	uc003fev.1	Q8IV35	OTTHUMG00000158290	ENST00000308378.3:c.577G>A	3.37:g.167277926C>T	ENSP00000311343:p.Ala193Thr					WDR49_ENST00000479765.1_Intron|WDR49_ENST00000453925.2_Missense_Mutation_p.A246T|WDR49_ENST00000476376.1_Missense_Mutation_p.A18T	p.A193T	NM_178824.3	NP_849146.1	Q8IV35	WDR49_HUMAN			5	882	-			193					Q8N297	Missense_Mutation	SNP	ENST00000308378.3	37	c.577G>A	CCDS3201.1	.	.	.	.	.	.	.	.	.	.	C	11.90	1.777350	0.31411	.	.	ENSG00000174776	ENST00000308378;ENST00000476376;ENST00000453925;ENST00000466760	T;T;T;T	0.61040	0.14;0.14;0.14;0.14	4.94	4.07	0.47477	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.327549	0.32314	N	0.006267	T	0.60157	0.2247	L	0.38953	1.18	0.25142	N	0.990495	D;D	0.89917	1.0;0.994	D;P	0.67103	0.949;0.797	T	0.49234	-0.8961	10	0.29301	T	0.29	.	7.6979	0.28606	0.1617:0.7533:0.0:0.085	.	246;193	E7EQK3;Q8IV35	.;WDR49_HUMAN	T	193;18;246;86	ENSP00000311343:A193T;ENSP00000420508:A18T;ENSP00000410863:A246T;ENSP00000418718:A86T	ENSP00000311343:A193T	A	-	1	0	WDR49	168760620	0.984000	0.35163	0.997000	0.53966	0.447000	0.32167	2.497000	0.45354	1.218000	0.43458	-0.229000	0.12294	GCA		0.453	WDR49-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000350592.3	NM_178824		18	96	0	0	0	1	0	18	96					T	167277926	C	T	167277926	3	4	216	1	0	0	0	0	1	0	0	0	17299	768	27	1	1560	1	WDR49	3	167277926	Missense_Mutation	SNP	C	TCGA-HC-7745-01A-11D-2114-08	100849734	167277926	30744504	12	9927											
EHHADH	1962	broad.mit.edu	37	chr3	184936017	184936017	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cttgagtgcttcatctgctaAaatacgtcttcctgaaataa	12	14	6	9	1	3	2	1	2	2	0	4	2	4	2	1	0	3	2	1	0	5	6			TCGA-HC-7745-01A-11D-2114-08	TCGA-HC-7745-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e51da70-984c-491f-a9eb-1bbb34f01a49	fabbba2f-92b0-48b5-be7a-e4c9fc08b795	g.chr3:184936017A>C	ENST00000231887.3	-	5	550	c.475T>G	c.(475-477)Tta>Gta	p.L159V	EHHADH_ENST00000456310.1_Missense_Mutation_p.L63V|EHHADH_ENST00000475987.1_5'UTR	NM_001166415.1|NM_001966.3	NP_001159887.1|NP_001957.2	Q08426	ECHP_HUMAN	enoyl-CoA, hydratase/3-hydroxyacyl CoA dehydrogenase	159	Enoyl-CoA hydratase / isomerase.				fatty acid beta-oxidation (GO:0006635)|internal protein amino acid acetylation (GO:0006475)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|peroxisome (GO:0005777)	3-hydroxyacyl-CoA dehydrogenase activity (GO:0003857)|coenzyme binding (GO:0050662)|dodecenoyl-CoA delta-isomerase activity (GO:0004165)|enoyl-CoA hydratase activity (GO:0004300)|enzyme binding (GO:0019899)|receptor binding (GO:0005102)			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|prostate(2)|skin(3)	24	all_cancers(143;4.04e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		Epithelial(37;1.98e-32)|OV - Ovarian serous cystadenocarcinoma(80;5.55e-21)			TCATCTGCTAAAATACGTCTT	0.378																																						ENST00000231887.3																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|prostate(2)|skin(3)	24						c.(475-477)Tta>Gta		enoyl-CoA, hydratase/3-hydroxyacyl CoA dehydrogenase	NADH(DB00157)						130	129	130					3																	184936017		2203	4300	6503	SO:0001583	missense	1962					peroxisome	3-hydroxyacyl-CoA dehydrogenase activity|coenzyme binding|dodecenoyl-CoA delta-isomerase activity|enoyl-CoA hydratase activity	g.chr3:184936017A>C	L07077	CCDS33901.1, CCDS54694.1	3q26.3-q28	2012-07-13	2010-04-30		ENSG00000113790	ENSG00000113790	4.2.1.17, 1.1.1.35, 5.3.3.8		3247	protein-coding gene	gene with protein product		607037	"enoyl-Coenzyme A, hydratase/3-hydroxyacyl Coenzyme A dehydrogenase"	ECHD		8188243	Standard	NM_001966		Approved		uc003fpf.3	Q08426	OTTHUMG00000156698	ENST00000231887.3:c.475T>G	3.37:g.184936017A>C	ENSP00000231887:p.Leu159Val					EHHADH_ENST00000475987.1_5'UTR|EHHADH_ENST00000456310.1_Missense_Mutation_p.L63V	p.L159V	NM_001166415.1|NM_001966.3	NP_001159887.1|NP_001957.2	Q08426	ECHP_HUMAN	Epithelial(37;1.98e-32)|OV - Ovarian serous cystadenocarcinoma(80;5.55e-21)		5	550	-	all_cancers(143;4.04e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		159			Enoyl-CoA hydratase / isomerase.		A8K6Y3|B4DWG3|D3DNU0|Q58EZ5	Missense_Mutation	SNP	ENST00000231887.3	37	c.475T>G	CCDS33901.1	.	.	.	.	.	.	.	.	.	.	A	9.971	1.225427	0.22457	.	.	ENSG00000113790	ENST00000537544;ENST00000231887;ENST00000456310	T;T	0.71817	-0.6;-0.6	5.9	2.07	0.26955	Crotonase, core (1);	0.773988	0.12360	N	0.475711	T	0.55465	0.1922	L	0.34521	1.04	0.09310	N	0.999998	B	0.25390	0.125	B	0.32090	0.14	T	0.44967	-0.9293	10	0.30078	T	0.28	2.2538	2.3708	0.04330	0.5155:0.0:0.2753:0.2091	.	159	Q08426	ECHP_HUMAN	V	159;159;63	ENSP00000231887:L159V;ENSP00000387746:L63V	ENSP00000231887:L159V	L	-	1	2	EHHADH	186418711	0.325000	0.24660	0.016000	0.15963	0.508000	0.34012	0.958000	0.29227	0.446000	0.26666	0.528000	0.53228	TTA		0.378	EHHADH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345326.1			29	104	0	0	0	1	0	29	104					C	184936017	A	C	184936017	3	2	216	1	0	0	0	0	1	0	0	0	4982	11	1	5	1708	5	EHHADH	3	184936017	Missense_Mutation	SNP	A	TCGA-HC-7745-01A-11D-2114-08	17658091	184936017	13086413	13	9928											
LRRC66	339977	broad.mit.edu	37	chr4	52883592	52883592	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tgaaacttacatccacagtgGctgctgtctgtgatatgtcc	9	13	9	10	0	1	2	0	2	1	0	3	2	3	2	2	1	3	2	2	1	3	2			TCGA-HC-7745-01A-11D-2114-08	TCGA-HC-7745-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e51da70-984c-491f-a9eb-1bbb34f01a49	fabbba2f-92b0-48b5-be7a-e4c9fc08b795	g.chr4:52883592G>A	ENST00000343457.3	-	1	194	c.188C>T	c.(187-189)gCc>gTc	p.A63V		NM_001024611.1	NP_001019782.1	Q68CR7	LRC66_HUMAN	leucine rich repeat containing 66	63						integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(8)|lung(34)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	58						ATCCACAGTGGCTGCTGTCTG	0.353																																						ENST00000343457.3																			0				central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(8)|lung(34)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	58						c.(187-189)gCc>gTc		leucine rich repeat containing 66							72	73	73					4																	52883592		1842	4095	5937	SO:0001583	missense	339977					integral to membrane		g.chr4:52883592G>A	BC040414	CCDS43229.1	4q12	2008-08-08			ENSG00000188993	ENSG00000188993			34299	protein-coding gene	gene with protein product							Standard	XM_005265739		Approved		uc003gzi.3	Q68CR7	OTTHUMG00000160623	ENST00000343457.3:c.188C>T	4.37:g.52883592G>A	ENSP00000341944:p.Ala63Val						p.A63V	NM_001024611.1	NP_001019782.1	Q68CR7	LRC66_HUMAN			1	194	-			63						Missense_Mutation	SNP	ENST00000343457.3	37	c.188C>T	CCDS43229.1	.	.	.	.	.	.	.	.	.	.	G	2.261	-0.369213	0.05069	.	.	ENSG00000188993	ENST00000343457	T	0.50813	0.73	5.01	0.813	0.18749	.	0.963902	0.08539	N	0.930920	T	0.29223	0.0727	L	0.29908	0.895	0.09310	N	1	B	0.25235	0.121	B	0.17722	0.019	T	0.21655	-1.0239	10	0.18276	T	0.48	-1.844	3.6903	0.08343	0.2156:0.0:0.2709:0.5135	.	63	Q68CR7	LRC66_HUMAN	V	63	ENSP00000341944:A63V	ENSP00000341944:A63V	A	-	2	0	LRRC66	52578349	0.007000	0.16637	0.000000	0.03702	0.005000	0.04900	1.473000	0.35387	-0.065000	0.13021	-0.188000	0.12872	GCC		0.353	LRRC66-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361473.1	NM_001024611		5	42	0	0	0	1	0	5	42					A	52883592	G	A	52883592	3	1	216	1	0	0	0	0	1	0	0	0	9018	1203	42	3	2470	3	LRRC66	4	52883592	Missense_Mutation	SNP	G	TCGA-HC-7745-01A-11D-2114-08		52883592	138270684	14	9929											
FGF5	2250	broad.mit.edu	37	chr4	81207627	81207627	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaagccaaacgagggtgcaGcccccgggttaaaccccagc	13	3	11	14	2	0	0	0	0	0	0	0	1	0	0	5	2	6	2	5	2	5	1			TCGA-HC-7745-01A-11D-2114-08	TCGA-HC-7745-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e51da70-984c-491f-a9eb-1bbb34f01a49	fabbba2f-92b0-48b5-be7a-e4c9fc08b795	g.chr4:81207627G>A	ENST00000312465.7	+	3	834	c.608G>A	c.(607-609)aGc>aAc	p.S203N	FGF5_ENST00000456523.3_3'UTR|FGF5_ENST00000503413.1_3'UTR	NM_004464.3	NP_004455.2	P12034	FGF5_HUMAN	fibroblast growth factor 5	203					cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glial cell differentiation (GO:0010001)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|signal transduction involved in regulation of gene expression (GO:0023019)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	fibroblast growth factor receptor binding (GO:0005104)			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	22						CGAGGGTGCAGCCCCCGGGTT	0.473																																						ENST00000312465.7																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	22						c.(607-609)aGc>aAc		fibroblast growth factor 5							75	83	80					4																	81207627		2203	4300	6503	SO:0001583	missense	2250				cell proliferation|cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|positive regulation of cell division|positive regulation of cell proliferation	extracellular space	fibroblast growth factor receptor binding|growth factor activity	g.chr4:81207627G>A	M23534	CCDS3586.1, CCDS34021.1	4q21	2014-01-30			ENSG00000138675	ENSG00000138675		"Endogenous ligands"	3683	protein-coding gene	gene with protein product		165190				3211147, 2577873	Standard	NM_001291812		Approved		uc003hmd.3	P12034	OTTHUMG00000130288	ENST00000312465.7:c.608G>A	4.37:g.81207627G>A	ENSP00000311697:p.Ser203Asn					FGF5_ENST00000503413.1_3'UTR|FGF5_ENST00000456523.3_3'UTR	p.S203N	NM_004464.3	NP_004455.2	P12034	FGF5_HUMAN			3	834	+			203					B2R554|O75846|Q3Y8M3|Q8NF90	Missense_Mutation	SNP	ENST00000312465.7	37	c.608G>A	CCDS34021.1	.	.	.	.	.	.	.	.	.	.	G	32	5.132963	0.94517	.	.	ENSG00000138675	ENST00000312465	T	0.76578	-1.03	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	D	0.84538	0.5494	L	0.38175	1.15	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.85190	0.1009	10	0.72032	D	0.01	.	20.0851	0.97797	0.0:0.0:1.0:0.0	.	203	P12034	FGF5_HUMAN	N	203	ENSP00000311697:S203N	ENSP00000311697:S203N	S	+	2	0	FGF5	81426651	1.000000	0.71417	1.000000	0.80357	0.875000	0.50365	9.800000	0.99124	2.758000	0.94735	0.650000	0.86243	AGC		0.473	FGF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252627.2			3	91	0	0	0	1	0	3	91					A	81207627	G	A	81207627	3	1	216	1	0	0	0	0	1	0	0	0	5855	971	34	3	618	3	FGF5	4	81207627	Missense_Mutation	SNP	G	TCGA-HC-7745-01A-11D-2114-08	28324035	81207627	109946649	15	9930											
PRKG2	5593	broad.mit.edu	37	chr4	82064095	82064095	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gacagcttccagttagacatGgaccgcctgtacaagagaag	13	7	11	10	1	0	2	0	0	0	2	1	5	1	3	3	1	2	3	3	1	4	3			TCGA-HC-7745-01A-11D-2114-08	TCGA-HC-7745-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e51da70-984c-491f-a9eb-1bbb34f01a49	fabbba2f-92b0-48b5-be7a-e4c9fc08b795	g.chr4:82064095G>A	ENST00000395578.1	-	11	1376	c.1260C>T	c.(1258-1260)tcC>tcT	p.S420S	PRKG2_ENST00000418486.2_Silent_p.S420S|PRKG2_ENST00000264399.1_Silent_p.S420S|PRKG2_ENST00000509169.1_5'UTR|PRKG2_ENST00000545647.1_5'UTR			Q13237	KGP2_HUMAN	protein kinase, cGMP-dependent, type II	420					blood coagulation (GO:0007596)|circadian regulation of gene expression (GO:0032922)|nitric oxide metabolic process (GO:0046209)|protein phosphorylation (GO:0006468)|regulation of nitric-oxide synthase activity (GO:0050999)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cGMP binding (GO:0030553)|cGMP-dependent protein kinase activity (GO:0004692)|protein kinase activity (GO:0004672)			NS(1)|breast(4)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)	37						AGTTAGACATGGACCGCCTGT	0.438																																						ENST00000395578.1																			0				NS(1)|breast(4)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)	37						c.(1258-1260)tcC>tcT		protein kinase, cGMP-dependent, type II							111	109	110					4																	82064095		2203	4300	6503	SO:0001819	synonymous_variant	5593				platelet activation|signal transduction	cytosol	ATP binding|cGMP binding|cGMP-dependent protein kinase activity	g.chr4:82064095G>A	X94612	CCDS3589.1, CCDS75150.1	4q13.1-q21.1	2009-07-10			ENSG00000138669	ENSG00000138669	2.7.11.1		9416	protein-coding gene	gene with protein product		601591				7498513	Standard	XM_005263126		Approved	cGKII, PRKGR2	uc003hmh.2	Q13237	OTTHUMG00000130296	ENST00000395578.1:c.1260C>T	4.37:g.82064095G>A						PRKG2_ENST00000264399.1_Silent_p.S420S|PRKG2_ENST00000418486.2_Silent_p.S420S|PRKG2_ENST00000545647.1_5'UTR|PRKG2_ENST00000509169.1_5'UTR	p.S420S			Q13237	KGP2_HUMAN			11	1376	-			420					B4DMX3|E7EPE6|O00125|O60916	Silent	SNP	ENST00000395578.1	37	c.1260C>T	CCDS3589.1																																																																																				0.438	PRKG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252639.1	NM_006259		13	69	0	0	0	1	0	13	69					A	82064095	G	A	82064095	2	1	216	1	0	0	0	0	0	0	0	1	12523	1335	47	3		3	PRKG2	4	82064095	Silent	SNP	G	TCGA-HC-7745-01A-11D-2114-08	856468	82064095	109090181	16	9931											
CLGN	1047	broad.mit.edu	37	chr4	141317054	141317054	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcatgggaggtttccactcAccacacccaatccgacatgc	11	8	7	15	1	2	0	2	0	0	0	4	2	4	1	4	2	1	1	4	2	1	1	rs200382827		TCGA-HC-7745-01A-11D-2114-08	TCGA-HC-7745-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e51da70-984c-491f-a9eb-1bbb34f01a49	fabbba2f-92b0-48b5-be7a-e4c9fc08b795	g.chr4:141317054A>G	ENST00000325617.5	-	10	1508	c.1068T>C	c.(1066-1068)ggT>ggC	p.G356G	CLGN_ENST00000537281.1_Silent_p.G356G|CLGN_ENST00000414773.1_Silent_p.G356G	NM_004362.2	NP_004353.1	O14967	CLGN_HUMAN	calmegin	356					binding of sperm to zona pellucida (GO:0007339)|protein complex assembly (GO:0006461)|protein folding (GO:0006457)|single fertilization (GO:0007338)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)	calcium ion binding (GO:0005509)|unfolded protein binding (GO:0051082)			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(5)|ovary(2)|prostate(3)|skin(4)|urinary_tract(1)	25	all_hematologic(180;0.162)					GTTTCCACTCACCACACCCAA	0.433													A|||	1	0.000199681	0	0	5008	,	,		16351	0		0.001	False		,,,				2504	0					ENST00000325617.5																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(5)|ovary(2)|prostate(3)|skin(4)|urinary_tract(1)	25						c.(1066-1068)ggT>ggC		calmegin							99	93	95					4																	141317054		2203	4300	6503	SO:0001819	synonymous_variant	1047				protein folding	endoplasmic reticulum membrane|integral to membrane	calcium ion binding|unfolded protein binding	g.chr4:141317054A>G	D86322	CCDS3751.1	4q28.3-q31.1	2008-02-05			ENSG00000153132	ENSG00000153132			2060	protein-coding gene	gene with protein product		601858					Standard	NM_004362		Approved		uc003iii.3	O14967	OTTHUMG00000133414	ENST00000325617.5:c.1068T>C	4.37:g.141317054A>G						CLGN_ENST00000414773.1_Silent_p.G356G|CLGN_ENST00000537281.1_Silent_p.G356G	p.G356G	NM_004362.2	NP_004353.1	O14967	CLGN_HUMAN			10	1508	-	all_hematologic(180;0.162)		356					B3KS90|B4DXV8|D3DNY8	Silent	SNP	ENST00000325617.5	37	c.1068T>C	CCDS3751.1																																																																																				0.433	CLGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257272.2	NM_004362		3	63	0	0	0	1	0	3	63					G	141317054	A	G	141317054	2	3	216	1	0	0	0	0	0	0	0	1	3524	146	6	4		4	CLGN	4	141317054	Silent	SNP	A	TCGA-HC-7745-01A-11D-2114-08	59252959	141317054	49837222	17	9932											
ABCE1	6059	broad.mit.edu	37	chr4	146032204	146032204	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgtgctgtcgtttgcatacAgaaagctgatatgtaggtta	10	15	11	5	1	0	2	0	1	0	1	1	2	0	2	0	1	4	6	0	1	5	6			TCGA-HC-7745-01A-11D-2114-08	TCGA-HC-7745-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e51da70-984c-491f-a9eb-1bbb34f01a49	fabbba2f-92b0-48b5-be7a-e4c9fc08b795	g.chr4:146032204A>C	ENST00000296577.4	+	8	1213	c.698A>C	c.(697-699)cAg>cCg	p.Q233P	ABCE1_ENST00000502803.1_Intron|OTUD4_ENST00000455611.2_5'UTR	NM_001040876.1|NM_002940.2	NP_001035809.1|NP_002931.2	P61221	ABCE1_HUMAN	ATP-binding cassette, sub-family E (OABP), member 1	233	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				negative regulation of catalytic activity (GO:0043086)|response to virus (GO:0009615)|RNA catabolic process (GO:0006401)|viral process (GO:0016032)	cytoplasm (GO:0005737)|membrane (GO:0016020)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|iron-sulfur cluster binding (GO:0051536)|ribonuclease inhibitor activity (GO:0008428)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|lung(5)|prostate(2)|skin(3)	18	all_hematologic(180;0.151)					GTTTGCATACAGAAAGCTGAT	0.363																																						ENST00000296577.4																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|lung(5)|prostate(2)|skin(3)	18						c.(697-699)cAg>cCg		ATP-binding cassette, sub-family E (OABP), member 1							137	122	127					4																	146032204		2203	4300	6503	SO:0001583	missense	6059				interspecies interaction between organisms|response to virus|RNA catabolic process	mitochondrion	ATP binding|ATPase activity|electron carrier activity|iron-sulfur cluster binding|ribonuclease inhibitor activity	g.chr4:146032204A>C	X74987	CCDS34071.1	4q31	2012-03-14			ENSG00000164163	ENSG00000164163		"ATP binding cassette transporters / subfamily E"	69	protein-coding gene	gene with protein product		601213		RNASEL1, RNASELI, RNS4I		7539425	Standard	NM_002940		Approved	RLI, OABP	uc003ijy.3	P61221	OTTHUMG00000161478	ENST00000296577.4:c.698A>C	4.37:g.146032204A>C	ENSP00000296577:p.Gln233Pro					OTUD4_ENST00000455611.2_5'UTR|ABCE1_ENST00000502803.1_Intron	p.Q233P	NM_001040876.1|NM_002940.2	NP_001035809.1|NP_002931.2	P61221	ABCE1_HUMAN			8	1213	+	all_hematologic(180;0.151)		233			ABC transporter 1.		O88793|Q13181|Q13864|Q6NR76|Q96AL0|Q96B10|Q99K66	Missense_Mutation	SNP	ENST00000296577.4	37	c.698A>C	CCDS34071.1	.	.	.	.	.	.	.	.	.	.	A	25.7	4.668761	0.88348	.	.	ENSG00000164163	ENST00000296577	D	0.85171	-1.95	5.45	5.45	0.79879	ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.000000	0.85682	D	0.000000	D	0.91771	0.7397	M	0.79614	2.46	0.80722	D	1	D	0.56968	0.978	D	0.65573	0.936	D	0.92738	0.6205	10	0.72032	D	0.01	-16.2547	15.8133	0.78581	1.0:0.0:0.0:0.0	.	233	P61221	ABCE1_HUMAN	P	233	ENSP00000296577:Q233P	ENSP00000296577:Q233P	Q	+	2	0	ABCE1	146251654	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.330000	0.96422	2.190000	0.69967	0.482000	0.46254	CAG		0.363	ABCE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365104.1	NM_002940		6	69	0	0	0	1	0	6	69					C	146032204	A	C	146032204	3	2	216	1	0	0	0	0	1	0	0	0	64	188	7	5	724	5	ABCE1	4	146032204	Missense_Mutation	SNP	A	TCGA-HC-7745-01A-11D-2114-08	4715150	146032204	45122072	18	9933											
NNT	23530	broad.mit.edu	37	chr5	43700278	43700278	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcttaatgtgctgctggcTgaggctggtgtgccatatga	7	12	14	8	0	0	2	0	2	0	0	0	2	0	2	1	3	4	5	1	3	2	2			TCGA-HC-7745-01A-11D-2114-08	TCGA-HC-7745-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e51da70-984c-491f-a9eb-1bbb34f01a49	fabbba2f-92b0-48b5-be7a-e4c9fc08b795	g.chr5:43700278T>G	ENST00000264663.5	+	20	3155	c.2934T>G	c.(2932-2934)gcT>gcG	p.A978A	NNT_ENST00000512996.2_Silent_p.A847A|NNT_ENST00000344920.4_Silent_p.A978A	NM_012343.3	NP_036475.3	Q13423	NNTM_HUMAN	nicotinamide nucleotide transhydrogenase	978					cellular metabolic process (GO:0044237)|hydrogen ion transmembrane transport (GO:1902600)|oxidation-reduction process (GO:0055114)|proton transport (GO:0015992)|reactive oxygen species metabolic process (GO:0072593)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain (GO:0005746)|mitochondrion (GO:0005739)	NAD binding (GO:0051287)|NAD(P)+ transhydrogenase (AB-specific) activity (GO:0008750)|NAD(P)+ transhydrogenase (B-specific) activity (GO:0003957)|NAD(P)+ transhydrogenase activity (GO:0008746)|NADP binding (GO:0050661)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(7)|large_intestine(6)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	Lung NSC(6;2.58e-06)					TGCTGCTGGCTGAGGCTGGTG	0.453																																						ENST00000264663.5																			0				breast(1)|central_nervous_system(2)|endometrium(2)|kidney(7)|large_intestine(6)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						c.(2932-2934)gcT>gcG		nicotinamide nucleotide transhydrogenase	NADH(DB00157)						175	166	169					5																	43700278		2203	4300	6503	SO:0001819	synonymous_variant	23530				tricarboxylic acid cycle	integral to membrane|mitochondrial respiratory chain	NAD binding|NAD(P)+ transhydrogenase (AB-specific) activity|NAD(P)+ transhydrogenase (B-specific) activity|NADP binding	g.chr5:43700278T>G	U40490	CCDS3949.1	5p12	2008-02-05			ENSG00000112992	ENSG00000112992	1.6.1.1		7863	protein-coding gene	gene with protein product		607878				9271681, 9524818	Standard	NM_182977		Approved		uc003jof.3	Q13423	OTTHUMG00000096961	ENST00000264663.5:c.2934T>G	5.37:g.43700278T>G						NNT_ENST00000512996.2_Silent_p.A847A|NNT_ENST00000344920.4_Silent_p.A978A	p.A978A	NM_012343.3	NP_036475.3	Q13423	NNTM_HUMAN			20	3155	+	Lung NSC(6;2.58e-06)		978					Q16796|Q2TB60|Q8N3V4	Silent	SNP	ENST00000264663.5	37	c.2934T>G	CCDS3949.1																																																																																				0.453	NNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214026.1	NM_182977		26	85	0	0	0	1	0	26	85					G	43700278	T	G	43700278	2	3	216	1	0	0	0	0	0	0	0	1	10510	1567	55	5		5	NNT	5	43700278	Silent	SNP	T	TCGA-HC-7745-01A-11D-2114-08		43700278	137214982	19	9934											
ANKRD32	84250	broad.mit.edu	37	chr5	94022425	94022425	+	Splice_Site	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	actctctcttcagaaaatggTaagtacctctctattctggt	10	15	6	10	0	5	1	1	0	4	1	7	1	5	1	1	2	1	2	1	2	5	5			TCGA-HC-7745-01A-11D-2114-08	TCGA-HC-7745-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e51da70-984c-491f-a9eb-1bbb34f01a49	fabbba2f-92b0-48b5-be7a-e4c9fc08b795	g.chr5:94022425T>G	ENST00000265140.5	+	16	2540		c.e16+2			NM_032290.3	NP_115666.2	Q9BQI6	ANR32_HUMAN	ankyrin repeat domain 32							centrosome (GO:0005813)|nucleus (GO:0005634)				NS(1)|breast(2)|endometrium(2)|large_intestine(1)|lung(3)|ovary(2)|prostate(1)|skin(1)	13		all_cancers(142;1.51e-09)|all_epithelial(76;4.68e-12)|all_lung(232;5.94e-05)|Ovarian(174;0.000953)|Lung NSC(167;0.00105)|Colorectal(57;0.122)|Lung SC(612;0.152)		all cancers(79;3.88e-18)		CAGAAAATGGTAAGTACCTCT	0.363																																						ENST00000265140.5																			0				NS(1)|breast(2)|endometrium(2)|large_intestine(1)|lung(3)|ovary(2)|prostate(1)|skin(1)	13						c.e16+2		ankyrin repeat domain 32							88	88	88					5																	94022425		2203	4300	6503	SO:0001630	splice_region_variant	84250							g.chr5:94022425T>G	AL136560	CCDS4071.2	5q15	2013-01-10			ENSG00000133302	ENSG00000133302		"Ankyrin repeat domain containing"	25408	protein-coding gene	gene with protein product			"BRCT domain containing 1"	BRCTD1			Standard	NM_032290		Approved	DKFZp761C121, DKFZp564C0469	uc003kkr.4	Q9BQI6	OTTHUMG00000121133	ENST00000265140.5:c.2121+2T>G	5.37:g.94022425T>G								NM_032290.3	NP_115666.2	Q9BQI6	ANR32_HUMAN		all cancers(79;3.88e-18)	16	2540	+		all_cancers(142;1.51e-09)|all_epithelial(76;4.68e-12)|all_lung(232;5.94e-05)|Ovarian(174;0.000953)|Lung NSC(167;0.00105)|Colorectal(57;0.122)|Lung SC(612;0.152)						B4DMG4|Q3B7K4|Q6NSA5|Q6PHW9|Q9Y402	Splice_Site	SNP	ENST00000265140.5	37		CCDS4071.2	.	.	.	.	.	.	.	.	.	.	T	20.9	4.066426	0.76187	.	.	ENSG00000133302	ENST00000265140	.	.	.	5.63	5.63	0.86233	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.7994	0.78439	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	ANKRD32	94048181	1.000000	0.71417	1.000000	0.80357	0.927000	0.56198	6.338000	0.72963	2.258000	0.74832	0.533000	0.62120	.		0.363	ANKRD32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241610.1	NM_032290	Intron	14	67	0	0	0	1	0	14	67					G	94022425	T	G	94022425	5	3	216	1	0	0	0	0	0	0	1	0	660	1652	57	5	2181	5	ANKRD32	5	94022425	Splice_Site	SNP	T	TCGA-HC-7745-01A-11D-2114-08	50322147	94022425	86892835	20	9935											
HIST1H4B	8366	broad.mit.edu	37	chr6	26027359	26027359	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaattcgcttaaccccaccaCgcctagcaaggcgccgaatg	12	6	8	15	4	0	0	0	0	0	0	1	1	0	0	5	1	2	2	5	1	5	3			TCGA-HC-7745-01A-11D-2114-08	TCGA-HC-7745-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e51da70-984c-491f-a9eb-1bbb34f01a49	fabbba2f-92b0-48b5-be7a-e4c9fc08b795	g.chr6:26027359C>T	ENST00000377364.3	-	1	121	c.122G>A	c.(121-123)cGt>cAt	p.R41H		NM_003544.2	NP_003535.1	P62805	H4_HUMAN	histone cluster 1, H4b	41					CENP-A containing nucleosome assembly (GO:0034080)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|histone H4-K20 demethylation (GO:0035574)|mitotic cell cycle (GO:0000278)|negative regulation of megakaryocyte differentiation (GO:0045653)|nucleosome assembly (GO:0006334)|telomere maintenance (GO:0000723)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|histone demethylase activity (H4-K20 specific) (GO:0035575)|poly(A) RNA binding (GO:0044822)			large_intestine(4)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)	13						AACCCCACCACGCCTAGCAAG	0.552																																						ENST00000377364.3																			0				large_intestine(4)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)	13						c.(121-123)cGt>cAt		histone cluster 1, H4b							70	63	65					6																	26027359		2203	4300	6503	SO:0001583	missense	8366				CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding	g.chr6:26027359C>T	X67081	CCDS4572.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000124529	ENSG00000278705		"Histones / Replication-dependent"	4789	protein-coding gene	gene with protein product		602829	"H4 histone family, member I", "histone 1, H4b"	H4FI		9119399, 12408966	Standard	NM_003544		Approved	H4/I	uc003nfr.3	P62805	OTTHUMG00000014417	ENST00000377364.3:c.122G>A	6.37:g.26027359C>T	ENSP00000366581:p.Arg41His						p.R41H	NM_003544.2	NP_003535.1	P62805	H4_HUMAN			1	121	-			41					A2VCL0|P02304|P02305|Q6DRA9|Q6FGB8|Q6NWP7	Missense_Mutation	SNP	ENST00000377364.3	37	c.122G>A	CCDS4572.1	.	.	.	.	.	.	.	.	.	.	c	19.82	3.898576	0.72639	.	.	ENSG00000124529	ENST00000377364	T	0.68903	-0.36	4.65	4.65	0.58169	.	0.000000	0.50627	U	0.000107	T	0.74869	0.3773	.	.	.	0.42809	D	0.993954	.	.	.	.	.	.	T	0.77648	-0.2509	7	0.59425	D	0.04	.	17.4106	0.87484	0.0:1.0:0.0:0.0	.	.	.	.	H	41	ENSP00000366581:R41H	ENSP00000366581:R41H	R	-	2	0	HIST1H4B	26135338	1.000000	0.71417	0.017000	0.16124	0.002000	0.02628	7.416000	0.80143	2.506000	0.84524	0.563000	0.77884	CGT		0.552	HIST1H4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040079.2	NM_003544		4	62	0	0	0	1	0	4	62					T	26027359	C	T	26027359	3	4	216	1	0	0	0	0	1	0	0	0	7166	536	19	1	193	1	HIST1H4B	6	26027359	Missense_Mutation	SNP	C	TCGA-HC-7745-01A-11D-2114-08		26027359	145087708	21	9936											
DNAH8	1769	broad.mit.edu	37	chr6	38810577	38810577	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaacagagacactgggatagAatctccgagttaactggaac	16	7	10	8	1	1	2	0	0	1	2	2	6	1	4	1	2	3	1	1	2	5	2			TCGA-HC-7745-01A-11D-2114-08	TCGA-HC-7745-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e51da70-984c-491f-a9eb-1bbb34f01a49	fabbba2f-92b0-48b5-be7a-e4c9fc08b795	g.chr6:38810577A>T	ENST00000359357.3	+	33	4346	c.4092A>T	c.(4090-4092)agA>agT	p.R1364S	DNAH8_ENST00000441566.1_Missense_Mutation_p.R1364S|DNAH8_ENST00000449981.2_Missense_Mutation_p.R1581S			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	1364					cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						ACTGGGATAGAATCTCCGAGT	0.383																																						ENST00000359357.3																			0				NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						c.(4090-4092)agA>agT		dynein, axonemal, heavy chain 8							131	121	124					6																	38810577		2203	4300	6503	SO:0001583	missense	1769							g.chr6:38810577A>T	Z83806	CCDS75447.1	6p21.2	2012-04-19	2006-09-04		ENSG00000124721	ENSG00000124721		"Axonemal dyneins"	2952	protein-coding gene	gene with protein product		603337	"dynein, axonemal, heavy polypeptide 8"			9373155	Standard	NM_001206927		Approved	hdhc9	uc021yzh.1	Q96JB1	OTTHUMG00000016253	ENST00000359357.3:c.4092A>T	6.37:g.38810577A>T	ENSP00000352312:p.Arg1364Ser					DNAH8_ENST00000449981.2_Missense_Mutation_p.R1581S|DNAH8_ENST00000441566.1_Missense_Mutation_p.R1364S	p.R1364S							33	4346	+								O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Missense_Mutation	SNP	ENST00000359357.3	37	c.4092A>T		.	.	.	.	.	.	.	.	.	.	A	19.27	3.796066	0.70567	.	.	ENSG00000124721	ENST00000449981;ENST00000327475;ENST00000359357;ENST00000441566	T;T;T	0.60424	0.19;0.19;0.19	5.12	-4.71	0.03279	Dynein heavy chain, domain-2 (1);	0.000000	0.85682	D	0.000000	T	0.56247	0.1972	M	0.86573	2.825	0.53688	D	0.999972	D	0.63046	0.992	D	0.66351	0.943	T	0.60161	-0.7317	10	0.54805	T	0.06	.	1.8564	0.03180	0.2135:0.4002:0.1576:0.2286	.	1364	Q96JB1	DYH8_HUMAN	S	1569;1569;1364;1364	ENSP00000333363:R1569S;ENSP00000352312:R1364S;ENSP00000402294:R1364S	ENSP00000333363:R1569S	R	+	3	2	DNAH8	38918555	0.020000	0.18652	0.987000	0.45799	0.912000	0.54170	-1.054000	0.03496	-0.555000	0.06142	0.455000	0.32223	AGA		0.383	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000043574.1	NM_001206927		24	99	0	0	0	1	0	24	99					T	38810577	A	T	38810577	3	4	216	1	0	0	0	0	1	0	0	0	4607	243	9	5	4214	5	DNAH8	6	38810577	Missense_Mutation	SNP	A	TCGA-HC-7745-01A-11D-2114-08	12783218	38810577	132304490	22	9937											
PKHD1	5314	broad.mit.edu	37	chr6	51774158	51774158	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agacttgaaactgcactcccTtcaactggacctggctgggc	9	9	10	13	0	1	2	1	1	0	1	2	3	2	3	2	3	3	2	2	3	2	2			TCGA-HC-7745-01A-11D-2114-08	TCGA-HC-7745-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e51da70-984c-491f-a9eb-1bbb34f01a49	fabbba2f-92b0-48b5-be7a-e4c9fc08b795	g.chr6:51774158T>C	ENST00000371117.3	-	40	6880	c.6605A>G	c.(6604-6606)aAg>aGg	p.K2202R	PKHD1_ENST00000340994.4_Missense_Mutation_p.K2202R	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	2202					cellular calcium ion homeostasis (GO:0006874)|cilium assembly (GO:0042384)|homeostatic process (GO:0042592)|kidney development (GO:0001822)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular component movement (GO:0051271)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of cell proliferation (GO:0008284)|regulation of centrosome duplication (GO:0010824)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of TOR signaling (GO:0032006)|single organismal cell-cell adhesion (GO:0016337)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|primary cilium (GO:0072372)	receptor activity (GO:0004872)			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					CTGCACTCCCTTCAACTGGAC	0.532																																						ENST00000371117.3																			0				NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304						c.(6604-6606)aAg>aGg		polycystic kidney and hepatic disease 1 (autosomal recessive)							197	186	190					6																	51774158		2203	4300	6503	SO:0001583	missense	5314				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity	g.chr6:51774158T>C	AF480064	CCDS4935.1, CCDS4936.1	6p21.2-p12	2012-11-26	2003-04-16		ENSG00000170927	ENSG00000170927			9016	protein-coding gene	gene with protein product	"tigmin", "polyductin", "fibrocystin"	606702	"TIG multiple domains 1"	TIGM1		9503014	Standard	NM_138694		Approved	ARPKD, FCYT	uc003pah.1	P08F94	OTTHUMG00000014841	ENST00000371117.3:c.6605A>G	6.37:g.51774158T>C	ENSP00000360158:p.Lys2202Arg					PKHD1_ENST00000340994.4_Missense_Mutation_p.K2202R	p.K2202R	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN			40	6880	-	Lung NSC(77;0.0605)		2202					Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Missense_Mutation	SNP	ENST00000371117.3	37	c.6605A>G	CCDS4935.1	.	.	.	.	.	.	.	.	.	.	.	12.24	1.878662	0.33162	.	.	ENSG00000170927	ENST00000371117;ENST00000340994;ENST00000393616	D;D	0.92348	-3.02;-3.02	5.8	2.17	0.27698	.	1.083200	0.06958	N	0.815890	T	0.71558	0.3354	N	0.14661	0.345	0.24444	N	0.99451	B;B;B	0.13145	0.001;0.007;0.001	B;B;B	0.13407	0.002;0.009;0.002	T	0.61013	-0.7148	10	0.33940	T	0.23	.	7.7648	0.28974	0.0:0.2321:0.0:0.7679	.	2202;2202;2202	A8MVM9;P08F94-2;P08F94	.;.;PKHD1_HUMAN	R	2202	ENSP00000360158:K2202R;ENSP00000341097:K2202R	ENSP00000341097:K2202R	K	-	2	0	PKHD1	51882117	0.106000	0.21978	0.994000	0.49952	0.733000	0.41908	1.337000	0.33862	0.139000	0.18822	0.460000	0.39030	AAG		0.532	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040893.1	NM_138694		3	185	0	0	0	1	0	3	185					C	51774158	T	C	51774158	3	2	216	1	0	0	0	0	1	0	0	0	11971	1609	56	4	5770	4	PKHD1	6	51774158	Missense_Mutation	SNP	T	TCGA-HC-7745-01A-11D-2114-08	12963581	51774158	119340909	23	9938											
CYP2W1	54905	broad.mit.edu	37	chr7	1024635	1024635	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agggctgcccgccagttcacGgtgcgtgccctgcacagcct	5	7	13	16	3	1	0	1	0	0	0	1	0	1	0	4	2	5	3	4	2	0	1			TCGA-HC-7745-01A-11D-2114-08	TCGA-HC-7745-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e51da70-984c-491f-a9eb-1bbb34f01a49	fabbba2f-92b0-48b5-be7a-e4c9fc08b795	g.chr7:1024635G>A	ENST00000308919.7	+	3	400	c.387G>A	c.(385-387)acG>acA	p.T129T	CYP2W1_ENST00000340150.6_Silent_p.T73T	NM_017781.2	NP_060251.2	Q8TAV3	CP2W1_HUMAN	cytochrome P450, family 2, subfamily W, polypeptide 1	129					small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen (GO:0016705)			breast(1)|large_intestine(1)|lung(4)|urinary_tract(1)	7		Ovarian(82;0.0112)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;1.74e-15)		GCCAGTTCACGGTGCGTGCCC	0.652																																						ENST00000340150.6																			0				breast(1)|large_intestine(1)|lung(4)|urinary_tract(1)	7						c.(217-219)acG>acA		cytochrome P450, family 2, subfamily W, polypeptide 1							32	39	36					7																	1024635		2202	4299	6501	SO:0001819	synonymous_variant	54905				xenobiotic metabolic process	endoplasmic reticulum membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen	g.chr7:1024635G>A	AK000366	CCDS5319.2	7p22.3	2004-07-05			ENSG00000073067	ENSG00000073067		"Cytochrome P450s"	20243	protein-coding gene	gene with protein product		615967					Standard	XM_005249792		Approved	FLJ20359, MGC34287	uc003sjq.1	Q8TAV3	OTTHUMG00000074071	ENST00000308919.7:c.387G>A	7.37:g.1024635G>A						CYP2W1_ENST00000308919.7_Silent_p.T129T	p.T73T			Q8TAV3	CP2W1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;1.74e-15)	3	241	+		Ovarian(82;0.0112)	129						Silent	SNP	ENST00000308919.7	37	c.219G>A	CCDS5319.2																																																																																				0.652	CYP2W1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157249.1	NM_017781		9	60	0	0	0	1	0	9	60					A	1024635	G	A	1024635	2	1	216	1	0	0	0	0	0	0	0	1	4176	1103	39	2		2	CYP2W1	7	1024635	Silent	SNP	G	TCGA-HC-7745-01A-11D-2114-08		1024635	158114028	24	9939											
FOXP2	93986	broad.mit.edu	37	chr7	114270016	114270018	+	In_Frame_Del	DEL	CAG	CAG	-																															aacagcagcagcagcagcaaCagcagcagcagcagcaacag																										TCGA-HC-7745-01A-11D-2114-08	TCGA-HC-7745-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e51da70-984c-491f-a9eb-1bbb34f01a49	fabbba2f-92b0-48b5-be7a-e4c9fc08b795	g.chr7:114270016_114270018delCAG	ENST00000393494.2	+	5	832_834	c.553_555delCAG	c.(553-555)cagdel	p.Q191del	FOXP2_ENST00000393500.3_In_Frame_Del_p.Q116del|FOXP2_ENST00000390668.3_In_Frame_Del_p.Q215del|FOXP2_ENST00000403559.4_In_Frame_Del_p.Q208del|AC020606.1_ENST00000580664.1_RNA|FOXP2_ENST00000408937.3_In_Frame_Del_p.Q216del|FOXP2_ENST00000393491.3_In_Frame_Del_p.Q99del|FOXP2_ENST00000393489.3_In_Frame_Del_p.Q99del|FOXP2_ENST00000360232.4_In_Frame_Del_p.Q191del|FOXP2_ENST00000350908.4_In_Frame_Del_p.Q191del|FOXP2_ENST00000378237.3_In_Frame_Del_p.Q191del|FOXP2_ENST00000393498.2_In_Frame_Del_p.Q171del			O15409	FOXP2_HUMAN	forkhead box P2	191	Gln-rich.				camera-type eye development (GO:0043010)|caudate nucleus development (GO:0021757)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|growth (GO:0040007)|lung alveolus development (GO:0048286)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of epithelial cell proliferation involved in lung morphogenesis (GO:0060501)|positive regulation of mesenchymal cell proliferation (GO:0002053)|post-embryonic development (GO:0009791)|putamen development (GO:0021758)|righting reflex (GO:0060013)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|vocal learning (GO:0042297)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.Q210Q(2)		breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						gcagcagcaacagcagcagcagc	0.507																																						ENST00000393500.3																			2	Substitution - coding silent(2)	p.Q210Q(2)	lung(2)	breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						c.(328-330)del		forkhead box P2																																				SO:0001651	inframe_deletion	93986				camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding	g.chr7:114270016_114270018delCAG	U80741	CCDS5760.1, CCDS5761.1, CCDS43635.1, CCDS5761.2, CCDS55154.1	7q31	2008-07-18			ENSG00000128573	ENSG00000128573		"Forkhead boxes"	13875	protein-coding gene	gene with protein product	"trinucleotide repeat containing 10", "forkhead/winged-helix transcription factor", "speech and language disorder 1", "CAG repeat protein 44"	605317		TNRC10, SPCH1		11586359, 9225980	Standard	NM_014491		Approved	CAGH44	uc003vgz.3	O15409	OTTHUMG00000023131	ENST00000393494.2:c.553_555delCAG	7.37:g.114270025_114270027delCAG	ENSP00000377132:p.Gln191del					FOXP2_ENST00000403559.4_In_Frame_Del_p.Q208del|FOXP2_ENST00000393494.2_In_Frame_Del_p.Q191del|FOXP2_ENST00000390668.3_In_Frame_Del_p.Q215del|FOXP2_ENST00000393498.2_In_Frame_Del_p.Q171del|FOXP2_ENST00000350908.4_In_Frame_Del_p.Q191del|FOXP2_ENST00000408937.3_In_Frame_Del_p.Q216del|FOXP2_ENST00000378237.3_In_Frame_Del_p.Q191del|FOXP2_ENST00000393491.3_In_Frame_Del_p.Q99del|FOXP2_ENST00000393489.3_In_Frame_Del_p.Q99del|FOXP2_ENST00000360232.4_In_Frame_Del_p.Q191del	p.Q116del			O15409	FOXP2_HUMAN			11	1148_1150	+			191			Gln-rich.		A0AUV6|A4D0U8|A6NNW4|B4DLD9|Q6ZND1|Q75MJ3|Q8IZE0|Q8N0W2|Q8N6B7|Q8N6B8|Q8NFQ1|Q8NFQ2|Q8NFQ3|Q8NFQ4|Q8TD74	In_Frame_Del	DEL	ENST00000393494.2	37	c.328_330delCAG	CCDS5760.1																																																																																				0.507	FOXP2-014	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317366.1	NM_014491		7	51						7	51	---	---	---	---	-	114270018	CAG	-	114270016	7	5	216	1	0	1	0	1	0	0	0	0	6027	479	17	0	701	0	FOXP2	7	114270016	In_Frame_Del	DEL	CAG	TCGA-HC-7745-01A-11D-2114-08	113245381	114270016	44868647	25	9940											
FSCN3	29999	broad.mit.edu	37	chr7	127235557	127235557	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccagtgcctaatctctggtcGttatttggagtccaatggca	8	13	10	10	1	1	0	0	0	1	0	4	1	2	1	3	3	1	2	3	3	3	3	rs199821862	byFrequency	TCGA-HC-7745-01A-11D-2114-08	TCGA-HC-7745-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e51da70-984c-491f-a9eb-1bbb34f01a49	fabbba2f-92b0-48b5-be7a-e4c9fc08b795	g.chr7:127235557G>A	ENST00000265825.5	+	2	560	c.341G>A	c.(340-342)cGt>cAt	p.R114H	GCC1_ENST00000497650.1_5'Flank|FSCN3_ENST00000420086.2_5'UTR	NM_020369.2	NP_065102.1	Q9NQT6	FSCN3_HUMAN	fascin actin-bundling protein 3, testicular	114						actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)		p.R114H(1)		endometrium(2)|large_intestine(3)|liver(2)|lung(17)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30						ATCTCTGGTCGTTATTTGGAG	0.567													G|||	7	0.00139776	0	0.0014	5008	,	,		19077	0		0	False		,,,				2504	0.0061					ENST00000265825.5																			1	Substitution - Missense(1)	p.R114H(1)	ovary(1)	endometrium(2)|large_intestine(3)|liver(2)|lung(17)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30						c.(340-342)cGt>cAt		fascin homolog 3, actin-bundling protein, testicular (Strongylocentrotus purpuratus)		G	HIS/ARG	0,4406		0,0,2203	153	114	127		341	3.8	0.8	7		127	1,8599	1.2+/-3.3	0,1,4299	no	missense	FSCN3	NM_020369.2	29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	114/499	127235557	1,13005	2203	4300	6503	SO:0001583	missense	29999					actin cytoskeleton|cytoplasm	actin filament binding|protein binding, bridging	g.chr7:127235557G>A		CCDS34746.1	7q31.3	2014-02-03	2014-02-03		ENSG00000106328	ENSG00000106328		"Fascins"	3961	protein-coding gene	gene with protein product		615800	"fascin (Strongylocentrotus purpuratus) homolog 3 (actin-bundling protein, testicular)", "fascin homolog 3, actin-bundling protein, testicular (Strongylocentrotus purpuratus)"			11925108	Standard	NM_020369		Approved		uc003vmd.2	Q9NQT6	OTTHUMG00000022935	ENST00000265825.5:c.341G>A	7.37:g.127235557G>A	ENSP00000265825:p.Arg114His					FSCN3_ENST00000420086.2_5'UTR	p.R114H	NM_020369.2	NP_065102.1	Q9NQT6	FSCN3_HUMAN			2	560	+			114					A4D0Z2|A6NLL7|B2RA62|B4DU68	Missense_Mutation	SNP	ENST00000265825.5	37	c.341G>A	CCDS34746.1	.	.	.	.	.	.	.	.	.	.	G	13.99	2.402665	0.42613	0.0	1.16E-4	ENSG00000106328	ENST00000265825	T	0.25250	1.81	5.58	3.76	0.43208	Fascin domain (1);Actin cross-linking (1);	0.293319	0.30302	N	0.009931	T	0.14570	0.0352	N	0.17474	0.49	0.80722	D	1	B	0.19583	0.037	B	0.12837	0.008	T	0.06570	-1.0819	10	0.35671	T	0.21	-35.605	9.0638	0.36451	0.1759:0.0:0.8241:0.0	.	114	Q9NQT6	FSCN3_HUMAN	H	114	ENSP00000265825:R114H	ENSP00000265825:R114H	R	+	2	0	FSCN3	127022793	0.053000	0.20554	0.833000	0.33012	0.739000	0.42172	1.132000	0.31418	1.502000	0.48669	0.650000	0.86243	CGT		0.567	FSCN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059256.2	NM_020369		3	57	0	0	0	1	0	3	57					A	127235557	G	A	127235557	3	1	216	1	0	0	0	0	1	0	0	0	6069	1145	40	1	347	1	FSCN3	7	127235557	Missense_Mutation	SNP	G	TCGA-HC-7745-01A-11D-2114-08	12965541	127235557	31903106	26	9941											
TEX15	56154	broad.mit.edu	37	chr8	30701810	30701810	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agtgggcaggtaaaataggcGtatgattaactcctagaatt	14	11	11	5	1	0	2	0	1	0	1	1	2	1	2	1	3	1	3	1	3	7	6	rs186835775		TCGA-HC-7745-01A-11D-2114-08	TCGA-HC-7745-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e51da70-984c-491f-a9eb-1bbb34f01a49	fabbba2f-92b0-48b5-be7a-e4c9fc08b795	g.chr8:30701810G>A	ENST00000256246.2	-	1	4798	c.4724C>T	c.(4723-4725)aCg>aTg	p.T1575M		NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	1575					fertilization (GO:0009566)|homeostasis of number of cells within a tissue (GO:0048873)|male genitalia development (GO:0030539)|male meiosis (GO:0007140)|protein localization to chromosome (GO:0034502)|regulation of double-strand break repair via homologous recombination (GO:0010569)|regulation of protein localization (GO:0032880)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)					NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		TAAAATAGGCGTATGATTAAC	0.388													G|||	1	0.000199681	0	0	5008	,	,		20286	0.001		0	False		,,,				2504	0					ENST00000256246.2																			0				NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138						c.(4723-4725)aCg>aTg		testis expressed 15							148	147	148					8																	30701810		2203	4300	6503	SO:0001583	missense	56154							g.chr8:30701810G>A	AF285605	CCDS6080.1	8p22	2009-03-25	2007-03-13			ENSG00000133863			11738	protein-coding gene	gene with protein product	"cancer/testis antigen 42"	605795	"testis expressed sequence 15"			11279525	Standard	NM_031271		Approved	CT42	uc003xil.3	Q9BXT5		ENST00000256246.2:c.4724C>T	8.37:g.30701810G>A	ENSP00000256246:p.Thr1575Met						p.T1575M	NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)	1	4798	-			1575						Missense_Mutation	SNP	ENST00000256246.2	37	c.4724C>T	CCDS6080.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	11.46	1.645582	0.29246	.	.	ENSG00000133863	ENST00000256246	T	0.09163	3.01	5.47	-10.6	0.00265	.	1.940030	0.02070	N	0.051467	T	0.02342	0.0072	N	0.00707	-1.245	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.48246	-0.9052	10	0.87932	D	0	.	2.3924	0.04381	0.1879:0.4347:0.1513:0.2261	.	1575	Q9BXT5	TEX15_HUMAN	M	1575	ENSP00000256246:T1575M	ENSP00000256246:T1575M	T	-	2	0	TEX15	30821352	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-2.226000	0.01211	-1.004000	0.03421	-0.290000	0.09829	ACG		0.388	TEX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376193.1			9	104	0	0	0	1	0	9	104					A	30701810	G	A	30701810	3	1	216	1	0	0	0	0	1	0	0	0	15776	1145	40	1	3661	1	TEX15	8	30701810	Missense_Mutation	SNP	G	TCGA-HC-7745-01A-11D-2114-08		30701810	115662212	27	9942											
ELAVL2	1993	broad.mit.edu	37	chr9	23701423	23701423	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cggtcctggataccttctgtTtggagactggtacagctggg	6	12	14	9	1	1	1	0	0	1	1	2	3	2	2	2	5	3	3	2	5	2	4			TCGA-HC-7745-01A-11D-2114-08	TCGA-HC-7745-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e51da70-984c-491f-a9eb-1bbb34f01a49	fabbba2f-92b0-48b5-be7a-e4c9fc08b795	g.chr9:23701423T>C	ENST00000397312.2	-	5	941	c.667A>G	c.(667-669)Aac>Gac	p.N223D	ELAVL2_ENST00000544538.1_Missense_Mutation_p.N223D|ELAVL2_ENST00000380110.4_Missense_Mutation_p.N252D|ELAVL2_ENST00000223951.6_Missense_Mutation_p.N223D|ELAVL2_ENST00000380117.1_Missense_Mutation_p.N223D	NM_004432.3	NP_004423.2	Q12926	ELAV2_HUMAN	ELAV like neuron-specific RNA binding protein 2	223					regulation of transcription, DNA-templated (GO:0006355)		mRNA 3'-UTR binding (GO:0003730)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	39				GBM - Glioblastoma multiforme(1;2.18e-156)|Lung(42;2.15e-28)|LUSC - Lung squamous cell carcinoma(38;1.02e-19)		TACCTTCTGTTTGGAGACTGG	0.488																																						ENST00000397312.2																			0				breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	39						c.(667-669)Aac>Gac		ELAV like neuron-specific RNA binding protein 2							296	290	292					9																	23701423		2203	4300	6503	SO:0001583	missense	1993				regulation of transcription, DNA-dependent		mRNA 3'-UTR binding|nucleotide binding|protein binding	g.chr9:23701423T>C	BC030692	CCDS6515.1, CCDS55298.1	9p21	2013-10-03	2013-10-03		ENSG00000107105	ENSG00000107105		"RNA binding motif (RRM) containing"	3313	protein-coding gene	gene with protein product	"Hu antigen B"	601673	"ELAV (embryonic lethal, abnormal vision, Drosophila)-like 2", "ELAV (embryonic lethal, abnormal vision, Drosophila)-like 2 (Hu antigen B)"			8812435	Standard	NM_004432		Approved	HuB, HEL-N1	uc003zpu.3	Q12926	OTTHUMG00000019700	ENST00000397312.2:c.667A>G	9.37:g.23701423T>C	ENSP00000380479:p.Asn223Asp					ELAVL2_ENST00000544538.1_Missense_Mutation_p.N223D|ELAVL2_ENST00000380110.4_Missense_Mutation_p.N252D|ELAVL2_ENST00000380117.1_Missense_Mutation_p.N223D|ELAVL2_ENST00000223951.6_Missense_Mutation_p.N223D	p.N223D	NM_004432.3	NP_004423.2	Q12926	ELAV2_HUMAN		GBM - Glioblastoma multiforme(1;2.18e-156)|Lung(42;2.15e-28)|LUSC - Lung squamous cell carcinoma(38;1.02e-19)	5	941	-			223					D3DRK3|Q13235|Q59G15|Q8NEM4|Q9H1Q8	Missense_Mutation	SNP	ENST00000397312.2	37	c.667A>G	CCDS6515.1	.	.	.	.	.	.	.	.	.	.	T	16.76	3.212750	0.58452	.	.	ENSG00000107105	ENST00000223951;ENST00000397312;ENST00000544538;ENST00000380110;ENST00000380117;ENST00000359598;ENST00000423281	T;T;T;T;T	0.15017	2.46;2.87;2.87;2.87;3.16	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	T	0.16041	0.0386	L	0.36672	1.1	0.80722	D	1	B;B	0.19445	0.036;0.03	B;B	0.25614	0.028;0.062	T	0.08659	-1.0711	10	0.13853	T	0.58	.	16.3663	0.83325	0.0:0.0:0.0:1.0	.	223;223	Q12926;Q12926-2	ELAV2_HUMAN;.	D	223;223;223;223;223;251;88	ENSP00000223951:N223D;ENSP00000380479:N223D;ENSP00000440998:N223D;ENSP00000369460:N223D;ENSP00000391757:N88D	ENSP00000223951:N223D	N	-	1	0	ELAVL2	23691423	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.678000	0.84035	2.269000	0.75478	0.460000	0.39030	AAC		0.488	ELAVL2-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000051943.2	NM_004432		32	224	0	0	0	1	0	32	224					C	23701423	T	C	23701423	3	2	216	1	0	0	0	0	1	0	0	0	5050	1841	64	4	424	4	ELAVL2	9	23701423	Missense_Mutation	SNP	T	TCGA-HC-7745-01A-11D-2114-08		23701423	117512008	28	9943											
ZNF658	26149	broad.mit.edu	37	chr9	40773282	40773282	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaattgtaggtgaaagatcTcccacattcattacattcat	13	14	6	8	0	3	3	2	2	1	1	4	3	3	3	1	1	1	1	1	1	4	5			TCGA-HC-7745-01A-11D-2114-08	TCGA-HC-7745-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e51da70-984c-491f-a9eb-1bbb34f01a49	fabbba2f-92b0-48b5-be7a-e4c9fc08b795	g.chr9:40773282T>C	ENST00000602553.1	-	5	2287	c.1993A>G	c.(1993-1995)Aga>Gga	p.R665G	ZNF658_ENST00000377626.3_Missense_Mutation_p.R665G|ZNF658_ENST00000441795.1_Intron			Q5TYW1	ZN658_HUMAN	zinc finger protein 658	665					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	46				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		GTGAAAGATCTCCCACATTCA	0.403																																						ENST00000602553.1																			0				breast(3)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	46						c.(1993-1995)Aga>Gga		zinc finger protein 658							90	94	93					9																	40773282		2202	4295	6497	SO:0001583	missense	26149				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:40773282T>C	AA482262	CCDS75846.1	9p13.1	2013-01-08			ENSG00000196409	ENSG00000274349		"Zinc fingers, C2H2-type", "-"	25226	protein-coding gene	gene with protein product							Standard	NM_033160		Approved	MGC35232, DKFZp572C163, FLJ32813	uc004abs.2	Q5TYW1	OTTHUMG00000013392	ENST00000602553.1:c.1993A>G	9.37:g.40773282T>C	ENSP00000473484:p.Arg665Gly					ZNF658_ENST00000377626.3_Missense_Mutation_p.R665G|ZNF658_ENST00000441795.1_Intron	p.R665G			Q5TYW1	ZN658_HUMAN		GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)	5	2287	-			665					Q6PIP3|Q96M55|Q9H9S6|Q9UG02	Missense_Mutation	SNP	ENST00000602553.1	37	c.1993A>G	CCDS35023.1	.	.	.	.	.	.	.	.	.	.	t	12.47	1.948712	0.34377	.	.	ENSG00000196409	ENST00000377626	T	0.35236	1.32	1.98	0.758	0.18432	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.43166	0.1235	M	0.80847	2.515	0.29472	N	0.856988	P	0.42123	0.771	P	0.45474	0.482	T	0.44667	-0.9313	9	0.72032	D	0.01	.	6.3074	0.21147	0.0:0.0:0.2548:0.7452	.	665	Q5TYW1	ZN658_HUMAN	G	665	ENSP00000366853:R665G	ENSP00000366853:R665G	R	-	1	2	ZNF658	40763282	0.442000	0.25633	0.001000	0.08648	0.981000	0.71138	2.862000	0.48388	0.207000	0.20607	-0.692000	0.03713	AGA		0.403	ZNF658-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467800.1	NM_033160		3	156	0	0	0	1	0	3	156					C	40773282	T	C	40773282	3	2	216	1	0	0	0	0	1	0	0	0	18066	1559	54	4	1190	4	ZNF658	9	40773282	Missense_Mutation	SNP	T	TCGA-HC-7745-01A-11D-2114-08	17071859	40773282	100440149	29	9944											
OR13C9	286362	broad.mit.edu	37	chr9	107379676	107379676	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcggtagcatccaagtcatcTgaattaagtgtctctttaga	11	14	8	8	1	3	2	1	1	2	1	6	2	4	2	1	1	1	2	1	1	5	4	rs185432775	byFrequency	TCGA-HC-7745-01A-11D-2114-08	TCGA-HC-7745-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e51da70-984c-491f-a9eb-1bbb34f01a49	3cae220e-d1a9-454a-82c3-f381e1b08a26	g.chr9:107379676T>C	ENST00000259362.1	-	1	809	c.810A>G	c.(808-810)tcA>tcG	p.S270S		NM_001001956.1	NP_001001956.1	Q8NGT0	O13C9_HUMAN	olfactory receptor, family 13, subfamily C, member 9	270						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(1)|large_intestine(6)|lung(9)|prostate(1)|skin(4)	22						CCAAGTCATCTGAATTAAGTG	0.403													T|||	2	0.000399361	0.0015	0	5008	,	,		20021	0		0	False		,,,				2504	0					ENST00000259362.1																			0				breast(1)|endometrium(1)|large_intestine(6)|lung(9)|prostate(1)|skin(4)	22						c.(808-810)tcA>tcG		olfactory receptor, family 13, subfamily C, member 9							158	145	150					9																	107379676		2203	4300	6503	SO:0001819	synonymous_variant	286362				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:107379676T>C		CCDS35093.1	9q31.1	2013-09-24			ENSG00000136839	ENSG00000136839		"GPCR / Class A : Olfactory receptors"	15104	protein-coding gene	gene with protein product							Standard	NM_001001956		Approved		uc011lvr.2	Q8NGT0	OTTHUMG00000020416	ENST00000259362.1:c.810A>G	9.37:g.107379676T>C							p.S270S	NM_001001956.1	NP_001001956.1	Q8NGT0	O13C9_HUMAN			1	809	-			270					Q6IFL2	Silent	SNP	ENST00000259362.1	37	c.810A>G	CCDS35093.1																																																																																				0.403	OR13C9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053490.1			4	86	0	0	0	1	0	4	86					C	107379676	T	C	107379676	2	2	216	1	0	0	0	0	0	0	0	1	10939	1567	55	4		4	OR13C9	9	107379676	Silent	SNP	T	TCGA-HC-7745-01A-11D-2114-08	66606394	107379676	33833755	30	9945											
COL5A1	1289	broad.mit.edu	37	chr9	137534099	137534101	+	In_Frame_Del	DEL	GCT	GCT	-																															ggcgccccgctgctgcccccGctgctgctgctgctgctgtg																								rs13288533		TCGA-HC-7745-01A-11D-2114-08	TCGA-HC-7745-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e51da70-984c-491f-a9eb-1bbb34f01a49	fabbba2f-92b0-48b5-be7a-e4c9fc08b795	g.chr9:137534099_137534101delGCT	ENST00000371817.3	+	1	480_482	c.66_68delGCT	c.(64-69)ccgctg>ccg	p.L28del		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	28					axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular fibril organization (GO:0043206)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|eye morphogenesis (GO:0048592)|heart morphogenesis (GO:0003007)|integrin biosynthetic process (GO:0045112)|negative regulation of endodermal cell differentiation (GO:1903225)|regulation of cellular component organization (GO:0051128)|skin development (GO:0043588)|tendon development (GO:0035989)|wound healing, spreading of epidermal cells (GO:0035313)	basement membrane (GO:0005604)|collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|proteoglycan binding (GO:0043394)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		tgctgcccccgctgctgctgctg	0.828																																						ENST00000371817.3																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115						c.(64-69)ccg>cc		collagen, type V, alpha 1																																				SO:0001651	inframe_deletion	1289				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding	g.chr9:137534099_137534101delGCT	D90279	CCDS6982.1, CCDS75932.1	9q34.2-q34.3	2014-09-17			ENSG00000130635	ENSG00000130635		"Collagens"	2209	protein-coding gene	gene with protein product	"alpha 1 type V collagen"	120215				1572660	Standard	NM_001278074		Approved		uc031tfl.1	P20908	OTTHUMG00000020891	ENST00000371817.3:c.66_68delGCT	9.37:g.137534108_137534110delGCT	ENSP00000360882:p.Leu28del						p.PL22del	NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)	1	480_482	+		Myeloproliferative disorder(178;0.0341)	22					Q15094|Q5SUX4	In_Frame_Del	DEL	ENST00000371817.3	37	c.66_68delGCT	CCDS6982.1																																																																																				0.828	COL5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054954.2	NM_000093		2	4						2	4	---	---	---	---	-	137534101	GCT	-	137534099	7	5	216	1	0	1	0	1	0	0	0	0	3696	1074	38	0	68	0	COL5A1	9	137534099	In_Frame_Del	DEL	GCT	TCGA-HC-7745-01A-11D-2114-08	30154423	137534099	3679332	31	9946											
CPN1	1369	broad.mit.edu	37	chr10	101835675	101835675	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttggacctcgtacctgggcaGcagccacctcgtagccgtcg	6	8	12	15	4	0	0	0	0	0	0	3	1	0	1	5	2	4	4	5	2	2	3			TCGA-HC-7745-01A-11D-2114-08	TCGA-HC-7745-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e51da70-984c-491f-a9eb-1bbb34f01a49	fabbba2f-92b0-48b5-be7a-e4c9fc08b795	g.chr10:101835675G>A	ENST00000370418.3	-	2	664	c.413C>T	c.(412-414)gCt>gTt	p.A138V		NM_001308.2	NP_001299.1	P15169	CBPN_HUMAN	carboxypeptidase N, polypeptide 1	138	Catalytic.				response to glucocorticoid (GO:0051384)	extracellular space (GO:0005615)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	33		Colorectal(252;0.234)		Epithelial(162;4.77e-10)|all cancers(201;3.82e-08)		TACCTGGGCAGCAGCCACCTC	0.567																																						ENST00000370418.3																			0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	33						c.(412-414)gCt>gTt		carboxypeptidase N, polypeptide 1							79	71	74					10																	101835675		2203	4300	6503	SO:0001583	missense	1369				proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding	g.chr10:101835675G>A	X14329	CCDS7486.1	10q24.2	2012-02-10	2007-02-23		ENSG00000120054	ENSG00000120054	3.4.17.3		2312	protein-coding gene	gene with protein product	"anaphylatoxin inactivator", "arginine carboxypeptidase", "carboxypeptidase K", "kininase I", "lysine carboxypeptidase"	603103	"carboxypeptidase N, polypeptide 1, 50kD"			9628828, 2912725	Standard	NM_001308		Approved		uc001kql.2	P15169	OTTHUMG00000018896	ENST00000370418.3:c.413C>T	10.37:g.101835675G>A	ENSP00000359446:p.Ala138Val						p.A138V	NM_001308.2	NP_001299.1	P15169	CBPN_HUMAN		Epithelial(162;4.77e-10)|all cancers(201;3.82e-08)	2	664	-		Colorectal(252;0.234)	138			Catalytic.		B1AP59	Missense_Mutation	SNP	ENST00000370418.3	37	c.413C>T	CCDS7486.1	.	.	.	.	.	.	.	.	.	.	G	12.95	2.090539	0.36855	.	.	ENSG00000120054	ENST00000370418	T	0.03212	4.01	5.74	4.84	0.62591	Peptidase M14, carboxypeptidase A (2);	0.045796	0.85682	N	0.000000	T	0.05960	0.0155	L	0.55103	1.725	0.80722	D	1	B	0.20459	0.045	B	0.27076	0.076	T	0.30001	-0.9993	10	0.16896	T	0.51	-42.0918	14.9114	0.70761	0.0689:0.0:0.9311:0.0	.	138	P15169	CBPN_HUMAN	V	138	ENSP00000359446:A138V	ENSP00000359446:A138V	A	-	2	0	CPN1	101825665	1.000000	0.71417	0.048000	0.18961	0.022000	0.10575	7.656000	0.83736	1.440000	0.47531	0.655000	0.94253	GCT		0.567	CPN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049828.1	NM_001308		3	48	0	0	0	1	0	3	48					A	101835675	G	A	101835675	3	1	216	1	0	0	0	0	1	0	0	0	3809	971	34	3	995	3	CPN1	10	101835675	Missense_Mutation	SNP	G	TCGA-HC-7745-01A-11D-2114-08		101835675	33699072	32	9947											
EIF3M	10480	broad.mit.edu	37	chr11	32610273	32610273	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaacgcccgtctctgagactGcagttgtaagttaagatctg	10	11	11	9	2	2	2	0	1	2	2	3	4	2	2	1	0	2	4	1	0	3	3	rs531170953	byFrequency	TCGA-HC-7745-01A-11D-2114-08	TCGA-HC-7745-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e51da70-984c-491f-a9eb-1bbb34f01a49	fabbba2f-92b0-48b5-be7a-e4c9fc08b795	g.chr11:32610273G>A	ENST00000531120.1	+	3	372	c.309G>A	c.(307-309)ctG>ctA	p.L103L	EIF3M_ENST00000524896.1_Intron	NM_006360.4	NP_006351.2			eukaryotic translation initiation factor 3, subunit M											breast(3)|endometrium(4)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	16	Breast(20;0.109)					CTCTGAGACTGCAGTTGTAAG	0.408																																						ENST00000531120.1																			0				breast(3)|endometrium(4)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	16						c.(307-309)ctG>ctA		eukaryotic translation initiation factor 3, subunit M							142	135	137					11																	32610273		2202	4299	6501	SO:0001819	synonymous_variant	10480					eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity	g.chr11:32610273G>A	AK131064	CCDS7880.1	11p13	2012-12-13	2007-07-27	2007-07-27	ENSG00000149100	ENSG00000149100			24460	protein-coding gene	gene with protein product	"transport and golgi organization 7 homolog (Drosophila)"	609641	"PCI domain containing 1 (herpesvirus entry mediator)"	PCID1		15919898, 15919899	Standard	NM_006360		Approved	hfl-B5, FLJ29030, GA17, eIF3m, TANGO7	uc001mtu.4	Q7L2H7	OTTHUMG00000166258	ENST00000531120.1:c.309G>A	11.37:g.32610273G>A						EIF3M_ENST00000524896.1_Intron	p.L103L	NM_006360.4	NP_006351.2	Q7L2H7	EIF3M_HUMAN			3	372	+	Breast(20;0.109)		103						Silent	SNP	ENST00000531120.1	37	c.309G>A	CCDS7880.1																																																																																				0.408	EIF3M-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388762.2	NM_006360		4	122	0	0	0	1	0	4	122					A	32610273	G	A	32610273	2	1	216	1	0	0	0	0	0	0	0	1	5023	1306	46	3		3	EIF3M	11	32610273	Silent	SNP	G	TCGA-HC-7745-01A-11D-2114-08		32610273	102396243	33	9948											
MADD	8567	broad.mit.edu	37	chr11	47296303	47296303	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtcttcaccctcactgacaaGgacactggagtcacgcgata	11	8	9	13	2	4	1	3	1	1	0	4	4	4	3	1	2	0	0	1	2	2	2			TCGA-HC-7745-01A-11D-2114-08	TCGA-HC-7745-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e51da70-984c-491f-a9eb-1bbb34f01a49	fabbba2f-92b0-48b5-be7a-e4c9fc08b795	g.chr11:47296303G>A	ENST00000311027.5	+	3	417	c.252G>A	c.(250-252)aaG>aaA	p.K84K	MADD_ENST00000395344.3_Silent_p.K84K|MADD_ENST00000402799.1_Silent_p.K84K|MADD_ENST00000406482.1_Silent_p.K84K|MADD_ENST00000342922.4_Silent_p.K84K|MADD_ENST00000402192.2_Silent_p.K84K|MADD_ENST00000407859.3_Silent_p.K84K|MADD_ENST00000349238.3_Silent_p.K84K|RP11-17G12.3_ENST00000545474.1_RNA|MADD_ENST00000395336.3_Silent_p.K84K|RP11-17G12.3_ENST00000543925.1_RNA	NM_003682.3	NP_003673.3			MAP-kinase activating death domain											breast(7)|central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(19)|lung(26)|ovary(6)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	84				Lung(87;0.182)		TCACTGACAAGGACACTGGAG	0.567																																						ENST00000342922.4																			0				breast(7)|central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(19)|lung(26)|ovary(6)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	84						c.(250-252)aaG>aaA		MAP-kinase activating death domain							118	115	116					11																	47296303		2201	4298	6499	SO:0001819	synonymous_variant	8567				activation of MAPK activity|apoptosis|cell surface receptor linked signaling pathway|regulation of apoptosis|regulation of cell cycle	cytoplasm|integral to membrane|plasma membrane	death receptor binding|protein kinase activator activity|Rab guanyl-nucleotide exchange factor activity	g.chr11:47296303G>A	AB002356	CCDS7930.1, CCDS7931.1, CCDS7932.1, CCDS41642.1, CCDS44586.1, CCDS44587.1, CCDS44588.1, CCDS44589.1, CCDS44590.1	11p11.2	2012-10-04			ENSG00000110514	ENSG00000110514		"DENN/MADD domain containing"	6766	protein-coding gene	gene with protein product		603584				9115275, 9796103	Standard	NM_130476		Approved	DENN, KIAA0358, RAB3GEP	uc001ner.1	Q8WXG6	OTTHUMG00000150350	ENST00000311027.5:c.252G>A	11.37:g.47296303G>A						MADD_ENST00000395344.3_Silent_p.K84K|MADD_ENST00000349238.3_Silent_p.K84K|MADD_ENST00000311027.5_Silent_p.K84K|MADD_ENST00000407859.3_Silent_p.K84K|MADD_ENST00000402799.1_Silent_p.K84K|MADD_ENST00000406482.1_Silent_p.K84K|MADD_ENST00000402192.2_Silent_p.K84K|MADD_ENST00000395336.3_Silent_p.K84K	p.K84K	NM_130470.2	NP_569826.2	Q8WXG6	MADD_HUMAN		Lung(87;0.182)	3	609	+			84			UDENN.			Silent	SNP	ENST00000311027.5	37	c.252G>A	CCDS7930.1																																																																																				0.567	MADD-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317746.1			3	135	0	0	0	1	0	3	135					A	47296303	G	A	47296303	2	1	216	1	0	0	0	0	0	0	0	1	9152	991	35	3		3	MADD	11	47296303	Silent	SNP	G	TCGA-HC-7745-01A-11D-2114-08	14686030	47296303	87710213	34	9949											
FADS1	3992	broad.mit.edu	37	chr11	61574167	61574167	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tatttgtgctggtggttgtaCggcatatattttttcttctg	5	21	10	5	1	2	0	0	0	2	0	2	0	2	0	0	3	2	4	0	3	4	10			TCGA-HC-7745-01A-11D-2114-08	TCGA-HC-7745-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e51da70-984c-491f-a9eb-1bbb34f01a49	fabbba2f-92b0-48b5-be7a-e4c9fc08b795	g.chr11:61574167C>T	ENST00000350997.7	-	6	1177	c.945G>A	c.(943-945)ccG>ccA	p.P315P	FADS1_ENST00000460649.1_5'Flank|FADS2_ENST00000574708.1_Intron|FADS1_ENST00000542506.1_Silent_p.P174P|FADS1_ENST00000536991.1_5'Flank|FADS1_ENST00000433932.1_Silent_p.P174P	NM_013402.4	NP_037534.3	O60427	FADS1_HUMAN	fatty acid desaturase 1	258					alpha-linolenic acid metabolic process (GO:0036109)|cell-cell signaling (GO:0007267)|cellular lipid metabolic process (GO:0044255)|cellular response to starvation (GO:0009267)|icosanoid biosynthetic process (GO:0046456)|linoleic acid metabolic process (GO:0043651)|phospholipid biosynthetic process (GO:0008654)|regulation of cell differentiation (GO:0045595)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|unsaturated fatty acid biosynthetic process (GO:0006636)|unsaturated fatty acid metabolic process (GO:0033559)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrion (GO:0005739)	C-5 sterol desaturase activity (GO:0000248)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxidoreductase activity (GO:0016491)			central_nervous_system(1)|endometrium(1)|lung(1)|urinary_tract(1)	4					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	GGTGGTTGTACGGCATATATT	0.483																																						ENST00000350997.7																			0				central_nervous_system(1)|endometrium(1)|lung(1)|urinary_tract(1)	4						c.(943-945)ccG>ccA		fatty acid desaturase 1	Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)						256	249	251					11																	61574167		2009	4182	6191	SO:0001819	synonymous_variant	3992				cell-cell signaling|cellular response to starvation|electron transport chain|icosanoid biosynthetic process|phospholipid biosynthetic process|regulation of cell differentiation|regulation of transcription, DNA-dependent|transport	endoplasmic reticulum membrane|integral to membrane|microsome	C-5 sterol desaturase activity|heme binding|protein binding	g.chr11:61574167C>T		CCDS8011.2	11q12-q13.1	2013-01-25			ENSG00000149485	ENSG00000149485	1.14.19.3	"Fatty acid desaturases"	3574	protein-coding gene	gene with protein product	"delta-5 desaturase"	606148		LLCDL1			Standard	NM_013402		Approved	D5D, FADSD5, TU12, FADS6	uc010rlm.2	O60427	OTTHUMG00000157155	ENST00000350997.7:c.945G>A	11.37:g.61574167C>T						FADS1_ENST00000542506.1_Silent_p.P174P|FADS2_ENST00000574708.1_Intron|FADS1_ENST00000433932.1_Silent_p.P174P	p.P315P	NM_013402.4	NP_037534.3	O60427	FADS1_HUMAN			6	1177	-			258					A8K0I7|B2RAI0|Q53GM5|Q8N3A6|Q8NCC7|Q8NCG0|Q96I39|Q96SV3|Q96T10|Q9NRP8|Q9NYX1	Silent	SNP	ENST00000350997.7	37	c.945G>A	CCDS8011.2																																																																																				0.483	FADS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347648.2	NM_013402		20	110	0	0	0	1	0	20	110					T	61574167	C	T	61574167	2	4	216	1	0	0	0	0	0	0	0	1	5365	523	19	1		1	FADS1	11	61574167	Silent	SNP	C	TCGA-HC-7745-01A-11D-2114-08	14277864	61574167	73432349	35	9950											
SPTBN2	6712	broad.mit.edu	37	chr11	66460020	66460020	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cactcacagtcacatgctcgTagtcctggcccagctcgtgg	7	9	10	15	2	2	0	2	0	0	0	5	0	3	0	2	2	2	3	2	2	1	1			TCGA-HC-7745-01A-11D-2114-08	TCGA-HC-7745-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e51da70-984c-491f-a9eb-1bbb34f01a49	fabbba2f-92b0-48b5-be7a-e4c9fc08b795	g.chr11:66460020T>C	ENST00000533211.1	-	26	5508	c.5177A>G	c.(5176-5178)tAc>tGc	p.Y1726C	SPTBN2_ENST00000529997.1_Missense_Mutation_p.Y1726C|SPTBN2_ENST00000309996.2_Missense_Mutation_p.Y1726C			O15020	SPTN2_HUMAN	spectrin, beta, non-erythrocytic 2	1726					actin filament capping (GO:0051693)|adult behavior (GO:0030534)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon guidance (GO:0007411)|cell death (GO:0008219)|cerebellar Purkinje cell layer morphogenesis (GO:0021692)|multicellular organism growth (GO:0035264)|synapse assembly (GO:0007416)|vesicle-mediated transport (GO:0016192)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular space (GO:0005615)|neuronal cell body (GO:0043025)|spectrin (GO:0008091)	actin binding (GO:0003779)|phospholipid binding (GO:0005543)|structural constituent of cytoskeleton (GO:0005200)			autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	74						CACATGCTCGTAGTCCTGGCC	0.647																																						ENST00000533211.1																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	74						c.(5176-5178)tAc>tGc		spectrin, beta, non-erythrocytic 2							76	69	72					11																	66460020		2200	4295	6495	SO:0001583	missense	6712				actin filament capping|axon guidance|cell death|vesicle-mediated transport	cytosol|spectrin	actin binding|structural constituent of cytoskeleton	g.chr11:66460020T>C	AB008567, AF026487, AF026488, AF079569	CCDS8150.1	11q13.2	2013-01-10			ENSG00000173898	ENSG00000173898		"Pleckstrin homology (PH) domain containing"	11276	protein-coding gene	gene with protein product		604985	"spinocerebellar ataxia 5"	SCA5		9826670, 16429157	Standard	NM_006946		Approved		uc001ojd.3	O15020	OTTHUMG00000167262	ENST00000533211.1:c.5177A>G	11.37:g.66460020T>C	ENSP00000432568:p.Tyr1726Cys					SPTBN2_ENST00000529997.1_Missense_Mutation_p.Y1726C|SPTBN2_ENST00000309996.2_Missense_Mutation_p.Y1726C	p.Y1726C			O15020	SPTN2_HUMAN			26	5508	-			1726					O14872|O14873	Missense_Mutation	SNP	ENST00000533211.1	37	c.5177A>G	CCDS8150.1	.	.	.	.	.	.	.	.	.	.	t	14.77	2.634714	0.47049	.	.	ENSG00000173898	ENST00000533211;ENST00000309996;ENST00000529997	T;T;T	0.50548	0.74;0.74;0.74	4.91	2.53	0.30540	.	0.137268	0.50627	D	0.000102	T	0.70885	0.3275	M	0.90977	3.165	0.50171	D	0.999854	D	0.89917	1.0	D	0.85130	0.997	T	0.71626	-0.4536	10	0.56958	D	0.05	.	9.3662	0.38226	0.2854:0.0:0.0:0.7146	.	1726	O15020	SPTN2_HUMAN	C	1726	ENSP00000432568:Y1726C;ENSP00000311489:Y1726C;ENSP00000433593:Y1726C	ENSP00000311489:Y1726C	Y	-	2	0	SPTBN2	66216596	0.999000	0.42202	0.932000	0.37286	0.409000	0.31022	2.711000	0.47177	0.341000	0.23771	-0.528000	0.04320	TAC		0.647	SPTBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393892.2	NM_006946		3	109	0	0	0	1	0	3	109					C	66460020	T	C	66460020	3	2	216	1	0	0	0	0	1	0	0	0	15119	1638	57	4	2047	4	SPTBN2	11	66460020	Missense_Mutation	SNP	T	TCGA-HC-7745-01A-11D-2114-08	4885853	66460020	68546496	36	9951											
USP35	57558	broad.mit.edu	37	chr11	77924826	77924826	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctgcaatcctgcaggtggCaatggtggtgacttccacag	8	9	14	10	0	0	1	0	1	0	0	2	1	2	1	2	5	2	4	2	5	2	1			TCGA-HC-7745-01A-11D-2114-08	TCGA-HC-7745-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e51da70-984c-491f-a9eb-1bbb34f01a49	fabbba2f-92b0-48b5-be7a-e4c9fc08b795	g.chr11:77924826C>T	ENST00000529308.1	+	11	3285	c.3024C>T	c.(3022-3024)ggC>ggT	p.G1008G	USP35_ENST00000530267.1_Silent_p.G576G|USP35_ENST00000526425.1_Silent_p.G739G|USP35_ENST00000530535.1_3'UTR|USP35_ENST00000441408.2_Silent_p.G594G	NM_020798.2	NP_065849.1	Q9P2H5	UBP35_HUMAN	ubiquitin specific peptidase 35	1008					protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitin-specific protease activity (GO:0004843)			endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(3)|urinary_tract(1)	23	all_cancers(14;3.77e-18)|all_epithelial(13;6.16e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.04e-25)			CTGCAGGTGGCAATGGTGGTG	0.582																																						ENST00000529308.1																			0				endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(3)|urinary_tract(1)	23						c.(3022-3024)ggC>ggT		ubiquitin specific peptidase 35							69	72	71					11																	77924826		2060	4185	6245	SO:0001819	synonymous_variant	57558				ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr11:77924826C>T	AB037793	CCDS41693.1	11q13.4	2008-02-05	2005-08-08			ENSG00000118369		"Ubiquitin-specific peptidases"	20061	protein-coding gene	gene with protein product			"ubiquitin specific protease 35"			12838346	Standard	NM_020798		Approved	KIAA1372	uc021qny.1	Q9P2H5		ENST00000529308.1:c.3024C>T	11.37:g.77924826C>T						USP35_ENST00000530267.1_Silent_p.G576G|USP35_ENST00000530535.1_3'UTR|USP35_ENST00000526425.1_Silent_p.G739G|USP35_ENST00000441408.2_Silent_p.G594G	p.G1008G	NM_020798.2	NP_065849.1	Q9P2H5	UBP35_HUMAN	OV - Ovarian serous cystadenocarcinoma(8;1.04e-25)		11	3285	+	all_cancers(14;3.77e-18)|all_epithelial(13;6.16e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		1008						Silent	SNP	ENST00000529308.1	37	c.3024C>T	CCDS41693.1																																																																																				0.582	USP35-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390026.1	XM_290527		4	74	0	0	0	1	0	4	74					T	77924826	C	T	77924826	2	4	216	1	0	0	0	0	0	0	0	1	17063	697	25	3		3	USP35	11	77924826	Silent	SNP	C	TCGA-HC-7745-01A-11D-2114-08	11464806	77924826	57081690	37	9952											
C11orf63	79864	broad.mit.edu	37	chr11	122774732	122774732	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgtctgtggaagcgttgccGgagtccacggacagctcttt	6	11	13	11	3	2	0	0	0	2	0	3	3	3	3	2	3	3	2	2	3	1	2			TCGA-HC-7745-01A-11D-2114-08	TCGA-HC-7745-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e51da70-984c-491f-a9eb-1bbb34f01a49	fabbba2f-92b0-48b5-be7a-e4c9fc08b795	g.chr11:122774732G>A	ENST00000531316.1	+	2	536	c.444G>A	c.(442-444)ccG>ccA	p.P148P	C11orf63_ENST00000307257.6_Silent_p.P148P|C11orf63_ENST00000227349.2_Silent_p.P148P			Q6NUN7	CK063_HUMAN	chromosome 11 open reading frame 63	148					axoneme assembly (GO:0035082)|brain development (GO:0007420)|cerebrospinal fluid secretion (GO:0033326)|ciliary basal body organization (GO:0032053)					breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(13)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	47		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.018)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.34e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0311)		AAGCGTTGCCGGAGTCCACGG	0.532																																						ENST00000227349.2																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(13)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	47						c.(442-444)ccG>ccA		chromosome 11 open reading frame 63							93	104	100					11																	122774732		2202	4299	6501	SO:0001819	synonymous_variant	79864							g.chr11:122774732G>A	BC068507	CCDS8438.1, CCDS8439.1	11q24.1	2012-05-25			ENSG00000109944	ENSG00000109944			26288	protein-coding gene	gene with protein product						12477932	Standard	NM_024806		Approved	FLJ23554	uc001pym.4	Q6NUN7	OTTHUMG00000166027	ENST00000531316.1:c.444G>A	11.37:g.122774732G>A						C11orf63_ENST00000307257.6_Silent_p.P148P|C11orf63_ENST00000531316.1_Silent_p.P148P	p.P148P	NM_024806.2	NP_079082.2	Q6NUN7	CK063_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.34e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0311)	3	741	+		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.018)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	148					A8K6G0|Q96GB5|Q9H5D6	Silent	SNP	ENST00000531316.1	37	c.444G>A	CCDS8438.1																																																																																				0.532	C11orf63-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387511.1	NM_024806		3	118	0	0	0	1	0	3	118					A	122774732	G	A	122774732	2	1	216	1	0	0	0	0	0	0	0	1	1654	1103	39	2		2	C11orf63	11	122774732	Silent	SNP	G	TCGA-HC-7745-01A-11D-2114-08	44849906	122774732	12231784	38	9953											
STT3A	3703	broad.mit.edu	37	chr11	125472775	125472775	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgacattcggaatgtctgtGtgttcctggcccctctcttc	4	15	9	13	2	2	0	0	0	2	0	7	2	3	1	3	2	0	1	3	2	1	3			TCGA-HC-7745-01A-11D-2114-08	TCGA-HC-7745-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e51da70-984c-491f-a9eb-1bbb34f01a49	fabbba2f-92b0-48b5-be7a-e4c9fc08b795	g.chr11:125472775G>A	ENST00000529196.1	+	6	555	c.349G>A	c.(349-351)Gtg>Atg	p.V117M	STT3A_ENST00000531491.1_Missense_Mutation_p.V25M|STT3A_ENST00000392708.4_Missense_Mutation_p.V117M			P46977	STT3A_HUMAN	STT3A, subunit of the oligosaccharyltransferase complex (catalytic)	117				V -> M (in Ref. 3; BAG58686). {ECO:0000305}.	cellular protein metabolic process (GO:0044267)|co-translational protein modification (GO:0043686)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|oligosaccharyltransferase complex (GO:0008250)	dolichyl-diphosphooligosaccharide-protein glycotransferase activity (GO:0004579)			NS(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(15)|skin(1)	33	all_hematologic(175;0.228)	Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0919)|all_lung(97;0.0994)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0996)		GAATGTCTGTGTGTTCCTGGC	0.488																																						ENST00000392708.4																			0				NS(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(15)|skin(1)	33						c.(349-351)Gtg>Atg		STT3A, subunit of the oligosaccharyltransferase complex (catalytic)							242	199	214					11																	125472775		2201	4299	6500	SO:0001583	missense	3703				post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|oligosaccharyltransferase complex	dolichyl-diphosphooligosaccharide-protein glycotransferase activity	g.chr11:125472775G>A	BC020965	CCDS8458.1, CCDS60998.1	11q23.3	2013-03-06	2013-03-06	2006-02-07	ENSG00000134910	ENSG00000134910	2.4.99.18		6172	protein-coding gene	gene with protein product	"dolichyl-diphosphooligosaccharide protein glycotransferase"	601134	"integral membrane protein 1", "STT3, subunit of the oligosaccharyltransferase complex, homolog A (S. cerevisiae)", "STT3A, cataylic subunit of the oligosaccharyltransferase complex"	ITM1		8941377, 8634329, 10234787	Standard	NM_152713		Approved	TMC, MGC9042, STT3-A	uc001qcd.2	P46977	OTTHUMG00000165852	ENST00000529196.1:c.349G>A	11.37:g.125472775G>A	ENSP00000436962:p.Val117Met					STT3A_ENST00000531491.1_Missense_Mutation_p.V25M|STT3A_ENST00000529196.1_Missense_Mutation_p.V117M	p.V117M	NM_001278503.1|NM_001278504.1|NM_152713.3	NP_001265432.1|NP_001265433.1|NP_689926.1	P46977	STT3A_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0996)	5	508	+	all_hematologic(175;0.228)	Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0919)|all_lung(97;0.0994)|all_neural(223;0.224)	117					B4DJ24|E9PNQ1|Q86XU9|Q8TE35|Q8WUB4	Missense_Mutation	SNP	ENST00000529196.1	37	c.349G>A	CCDS8458.1	.	.	.	.	.	.	.	.	.	.	G	33	5.226775	0.95173	.	.	ENSG00000134910	ENST00000527606;ENST00000392708;ENST00000529196;ENST00000531491;ENST00000529886	.	.	.	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	D	0.90239	0.6948	H	0.96604	3.85	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.92733	0.6201	9	0.87932	D	0	-18.4132	19.7913	0.96458	0.0:0.0:1.0:0.0	.	25;117	E9PNQ1;P46977	.;STT3A_HUMAN	M	117;117;117;25;117	.	ENSP00000376472:V117M	V	+	1	0	STT3A	124977985	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.813000	0.99286	2.840000	0.97914	0.655000	0.94253	GTG		0.488	STT3A-002	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000386691.1	NM_152713		22	55	0	0	0	1	0	22	55					A	125472775	G	A	125472775	3	1	216	1	0	0	0	0	1	0	0	0	15332	1377	48	3	363	3	STT3A	11	125472775	Missense_Mutation	SNP	G	TCGA-HC-7745-01A-11D-2114-08	2698043	125472775	9533741	39	9954											
CLEC1B	51266	broad.mit.edu	37	chr12	10147815	10147815	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcgagataatccgacccaacGaattaaatgagtcctggctt	13	9	9	10	3	0	2	0	1	0	1	2	5	2	2	3	1	1	1	3	1	5	3			TCGA-HC-7745-01A-11D-2114-08	TCGA-HC-7745-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e51da70-984c-491f-a9eb-1bbb34f01a49	fabbba2f-92b0-48b5-be7a-e4c9fc08b795	g.chr12:10147815G>A	ENST00000298527.6	-	5	648	c.469C>T	c.(469-471)Cgt>Tgt	p.R157C	CLEC1B_ENST00000428126.2_Missense_Mutation_p.R124C|CLEC1B_ENST00000348658.4_Missense_Mutation_p.R124C	NM_016509.3	NP_057593.3	Q9P126	CLC1B_HUMAN	C-type lectin domain family 1, member B	157	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				cell surface receptor signaling pathway (GO:0007166)|defense response (GO:0006952)|platelet formation (GO:0030220)	integral component of plasma membrane (GO:0005887)	carbohydrate binding (GO:0030246)|transmembrane signaling receptor activity (GO:0004888)	p.R157C(1)|p.?(1)		NS(1)|breast(1)|central_nervous_system(1)|large_intestine(2)|lung(12)|stomach(1)|urinary_tract(1)	19						CCGACCCAACGAATTAAATGA	0.418																																						ENST00000428126.2																			2	Substitution - Missense(1)|Unknown(1)	p.R157C(1)|p.?(1)	large_intestine(2)	NS(1)|breast(1)|central_nervous_system(1)|large_intestine(2)|lung(12)|stomach(1)|urinary_tract(1)	19						c.(370-372)Cgt>Tgt		C-type lectin domain family 1, member B							258	248	251					12																	10147815		1853	4089	5942	SO:0001583	missense	51266				cell surface receptor linked signaling pathway|defense response	integral to plasma membrane	protein binding|sugar binding|transmembrane receptor activity	g.chr12:10147815G>A	AF124841	CCDS41751.1, CCDS41752.1	12p13.31	2006-04-12				ENSG00000165682		"C-type lectin domain containing"	24356	protein-coding gene	gene with protein product		606783				10671229, 11745369	Standard	NM_016509		Approved	CLEC2	uc001qwu.3	Q9P126		ENST00000298527.6:c.469C>T	12.37:g.10147815G>A	ENSP00000298527:p.Arg157Cys					CLEC1B_ENST00000348658.4_Missense_Mutation_p.R124C|CLEC1B_ENST00000298527.6_Missense_Mutation_p.R157C	p.R124C			Q9P126	CLC1B_HUMAN			6	639	-			157			C-type lectin.		Q6UWX7|Q8NHR6	Missense_Mutation	SNP	ENST00000298527.6	37	c.370C>T	CCDS41752.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.26|16.26	3.072111|3.072111	0.55646|0.55646	.|.	.|.	ENSG00000165682|ENSG00000165682	ENST00000398939|ENST00000398937;ENST00000428126;ENST00000298527;ENST00000348658	.|T;T;T;T	.|0.18338	.|2.22;2.22;2.22;2.22	3.83|3.83	3.83|3.83	0.44106|0.44106	.|C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	.|0.000000	.|0.48767	.|D	.|0.000165	.|T	.|0.37433	.|0.1003	M|M	0.69823|0.69823	2.125|2.125	0.50632|0.50632	D|D	0.999883|0.999883	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.91635	.|0.999;0.999	.|T	.|0.08953	.|-1.0697	.|10	.|0.40728	.|T	.|0.16	.|.	11.1397|11.1397	0.48396|0.48396	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|124;157	.|Q9P126-2;Q9P126	.|.;CLC1B_HUMAN	.|C	-1|64;124;157;124	.|ENSP00000381910:R64C;ENSP00000406338:R124C;ENSP00000298527:R157C;ENSP00000327169:R124C	.|ENSP00000298527:R157C	.|R	-|-	.|1	.|0	CLEC1B|CLEC1B	10039082|10039082	0.999000|0.999000	0.42202|0.42202	0.960000|0.960000	0.40013|0.40013	0.644000|0.644000	0.38419|0.38419	4.365000|4.365000	0.59486|0.59486	1.954000|1.954000	0.56735|0.56735	0.298000|0.298000	0.19748|0.19748	.|CGT		0.418	CLEC1B-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399922.1	NM_016509		51	267	0	0	0	1	0	51	267					A	10147815	G	A	10147815	3	1	216	1	0	0	0	0	1	0	0	0	3506	1058	37	2	228	2	CLEC1B	12	10147815	Missense_Mutation	SNP	G	TCGA-HC-7745-01A-11D-2114-08		10147815	123704080	40	9955											
DPY19L2	283417	broad.mit.edu	37	chr12	64041106	64041106	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttctagtccaaataaattcaTtattcccatgaatgtgcaat	14	15	4	8	0	2	1	1	1	1	0	4	1	4	1	2	0	1	1	2	0	7	6	rs200602630		TCGA-HC-7745-01A-11D-2114-08	TCGA-HC-7745-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e51da70-984c-491f-a9eb-1bbb34f01a49	fabbba2f-92b0-48b5-be7a-e4c9fc08b795	g.chr12:64041106T>C	ENST00000324472.4	-	5	811	c.628A>G	c.(628-630)Atg>Gtg	p.M210V	RP11-415I12.3_ENST00000509615.2_RNA	NM_173812.4	NP_776173.3	Q6NUT2	D19L2_HUMAN	dpy-19-like 2 (C. elegans)	210					multicellular organismal development (GO:0007275)|spermatid development (GO:0007286)	integral component of membrane (GO:0016021)|nuclear inner membrane (GO:0005637)|nucleus (GO:0005634)	transferase activity, transferring glycosyl groups (GO:0016757)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	45			GBM - Glioblastoma multiforme(1;2.77e-05)	GBM - Glioblastoma multiforme(28;0.044)		AATAAATTCATTATTCCCATG	0.318																																						ENST00000324472.4																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						c.(628-630)Atg>Gtg		dpy-19-like 2 (C. elegans)							64	68	67					12																	64041106		2203	4298	6501	SO:0001583	missense	283417				multicellular organismal development|spermatid development	integral to membrane		g.chr12:64041106T>C		CCDS31851.1	12q14.2	2012-11-14			ENSG00000177990	ENSG00000177990			19414	protein-coding gene	gene with protein product	"spermatogenesis associated 34"	613893				12975309	Standard	XM_006719348		Approved	FLJ32949, SPATA34	uc001srp.1	Q6NUT2	OTTHUMG00000168712	ENST00000324472.4:c.628A>G	12.37:g.64041106T>C	ENSP00000315988:p.Met210Val					RP11-415I12.3_ENST00000509615.2_RNA	p.M210V	NM_173812.4	NP_776173.3	Q6NUT2	D19L2_HUMAN	GBM - Glioblastoma multiforme(1;2.77e-05)	GBM - Glioblastoma multiforme(28;0.044)	5	811	-			210					A4FVC1|B4E191|Q3ZCX2|Q6UWG8|Q96LZ9	Missense_Mutation	SNP	ENST00000324472.4	37	c.628A>G	CCDS31851.1	137	0.06272893772893773	57	0.11585365853658537	8	0.022099447513812154	55	0.09615384615384616	17	0.022427440633245383	T	2.494	-0.316745	0.05386	.	.	ENSG00000177990	ENST00000324472	T	0.54479	0.57	2.35	1.07	0.20283	.	0.097071	0.64402	U	0.000002	T	0.00440	0.0014	.	.	.	0.80722	D	1	B	0.24258	0.1	B	0.22152	0.038	T	0.04373	-1.0956	8	.	.	.	.	4.6287	0.12491	0.2818:0.0:0.0:0.7182	.	210	Q6NUT2	D19L2_HUMAN	V	210	ENSP00000315988:M210V	.	M	-	1	0	DPY19L2	62327373	1.000000	0.71417	0.995000	0.50966	0.654000	0.38779	3.307000	0.51888	0.118000	0.18165	0.155000	0.16302	ATG		0.318	DPY19L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400689.2	NM_173812		4	110	0	0	0	1	0	4	110					C	64041106	T	C	64041106	3	2	216	1	0	0	0	0	1	0	0	0	4741	1493	52	4	1720	4	DPY19L2	12	64041106	Missense_Mutation	SNP	T	TCGA-HC-7745-01A-11D-2114-08	53893291	64041106	69810789	41	9956											
OR11H4	390442	broad.mit.edu	37	chr14	20711208	20711208	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gagatctggtatgtgtcctcCactattcctaacatgctagt	9	14	8	10	0	1	1	0	0	1	1	4	2	4	1	3	1	2	2	3	1	4	5	rs150420661		TCGA-HC-7745-01A-11D-2114-08	TCGA-HC-7745-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e51da70-984c-491f-a9eb-1bbb34f01a49	fabbba2f-92b0-48b5-be7a-e4c9fc08b795	g.chr14:20711208C>T	ENST00000315409.2	+	1	311	c.258C>T	c.(256-258)tcC>tcT	p.S86S		NM_001004479.1	NP_001004479.1	Q8NGC9	O11H4_HUMAN	olfactory receptor, family 11, subfamily H, member 4	86						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(3)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	29	all_cancers(95;0.000888)		Epithelial(56;1.75e-06)|all cancers(55;1.22e-05)	GBM - Glioblastoma multiforme(265;0.0146)		ATGTGTCCTCCACTATTCCTA	0.453																																						ENST00000315409.2																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(3)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	29						c.(256-258)tcC>tcT		olfactory receptor, family 11, subfamily H, member 4		C		1,4405	2.1+/-5.4	0,1,2202	167	162	164		258	3.7	1	14	dbSNP_134	164	0,8600		0,0,4300	no	coding-synonymous	OR11H4	NM_001004479.1		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		86/325	20711208	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	390442				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20711208C>T		CCDS32034.1	14q11.2	2013-09-24			ENSG00000176198	ENSG00000176198		"GPCR / Class A : Olfactory receptors"	15347	protein-coding gene	gene with protein product							Standard	NM_001004479		Approved		uc010tld.2	Q8NGC9	OTTHUMG00000170852	ENST00000315409.2:c.258C>T	14.37:g.20711208C>T							p.S86S	NM_001004479.1	NP_001004479.1	Q8NGC9	O11H4_HUMAN	Epithelial(56;1.75e-06)|all cancers(55;1.22e-05)	GBM - Glioblastoma multiforme(265;0.0146)	1	311	+	all_cancers(95;0.000888)		86					B2RNQ4|Q6IF07	Silent	SNP	ENST00000315409.2	37	c.258C>T	CCDS32034.1																																																																																				0.453	OR11H4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410678.1			5	166	0	0	0	1	0	5	166					T	20711208	C	T	20711208	2	4	216	1	0	0	0	0	0	0	0	1	10928	581	21	3		3	OR11H4	14	20711208	Silent	SNP	C	TCGA-HC-7745-01A-11D-2114-08		20711208	86638332	42	9957											
MMP14	4323	broad.mit.edu	37	chr14	23312555	23312555	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cctcggccatcatggcacccTtttaccagtggatggacacg	8	9	10	14	2	1	0	1	0	0	0	2	2	1	2	4	4	1	1	4	4	1	2			TCGA-HC-7745-01A-11D-2114-08	TCGA-HC-7745-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e51da70-984c-491f-a9eb-1bbb34f01a49	fabbba2f-92b0-48b5-be7a-e4c9fc08b795	g.chr14:23312555T>C	ENST00000311852.6	+	5	1039	c.778T>C	c.(778-780)Ttt>Ctt	p.F260L	MMP14_ENST00000548162.1_3'UTR	NM_004995.2	NP_004986.1	P50281	MMP14_HUMAN	matrix metallopeptidase 14 (membrane-inserted)	260					angiogenesis (GO:0001525)|astrocyte cell migration (GO:0043615)|branching morphogenesis of an epithelial tube (GO:0048754)|chondrocyte proliferation (GO:0035988)|collagen catabolic process (GO:0030574)|craniofacial suture morphogenesis (GO:0097094)|embryonic cranial skeleton morphogenesis (GO:0048701)|endochondral ossification (GO:0001958)|endodermal cell differentiation (GO:0035987)|endothelial cell proliferation (GO:0001935)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|lung development (GO:0030324)|male gonad development (GO:0008584)|negative regulation of focal adhesion assembly (GO:0051895)|ovarian follicle development (GO:0001541)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|proteolysis (GO:0006508)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|response to mechanical stimulus (GO:0009612)|response to oxidative stress (GO:0006979)|tissue remodeling (GO:0048771)|zymogen activation (GO:0031638)	extracellular matrix (GO:0031012)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|peptidase activator activity (GO:0016504)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	20	all_cancers(95;9.47e-05)			GBM - Glioblastoma multiforme(265;0.00551)	Marimastat(DB00786)	CATGGCACCCTTTTACCAGTG	0.587																																						ENST00000311852.6																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	20						c.(778-780)Ttt>Ctt		matrix metallopeptidase 14 (membrane-inserted)							107	103	105					14																	23312555		2203	4300	6503	SO:0001583	missense	4323					extracellular matrix|integral to plasma membrane|melanosome	calcium ion binding|metalloendopeptidase activity|zinc ion binding	g.chr14:23312555T>C		CCDS9577.1	14q11-q12	2011-06-29	2005-08-08		ENSG00000157227	ENSG00000157227			7160	protein-coding gene	gene with protein product	"membrane type 1 metalloprotease"	600754	"matrix metalloproteinase 14 (membrane-inserted)"			8015608	Standard	NM_004995		Approved	MT1-MMP	uc001whc.3	P50281	OTTHUMG00000028704	ENST00000311852.6:c.778T>C	14.37:g.23312555T>C	ENSP00000308208:p.Phe260Leu					MMP14_ENST00000548162.1_3'UTR	p.F260L	NM_004995.2	NP_004986.1	P50281	MMP14_HUMAN		GBM - Glioblastoma multiforme(265;0.00551)	5	1039	+	all_cancers(95;9.47e-05)		260					A8K5L0|Q6GSF3|Q92678	Missense_Mutation	SNP	ENST00000311852.6	37	c.778T>C	CCDS9577.1	.	.	.	.	.	.	.	.	.	.	T	34	5.371239	0.95923	.	.	ENSG00000157227	ENST00000311852	T	0.19806	2.12	5.54	5.54	0.83059	Peptidase M10, metallopeptidase (1);Peptidase, metallopeptidase (1);Metallopeptidase, catalytic domain (1);	0.094116	0.85682	D	0.000000	T	0.34106	0.0886	L	0.58669	1.825	0.80722	D	1	D	0.53462	0.96	P	0.52598	0.703	T	0.04427	-1.0952	10	0.51188	T	0.08	.	14.6441	0.68748	0.0:0.0:0.0:1.0	.	260	P50281	MMP14_HUMAN	L	260	ENSP00000308208:F260L	ENSP00000308208:F260L	F	+	1	0	MMP14	22382395	1.000000	0.71417	0.938000	0.37757	0.861000	0.49209	8.040000	0.89188	2.107000	0.64212	0.460000	0.39030	TTT		0.587	MMP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071660.3	NM_004995		4	166	0	0	0	1	0	4	166					C	23312555	T	C	23312555	3	2	216	1	0	0	0	0	1	0	0	0	9653	1609	56	4	796	4	MMP14	14	23312555	Missense_Mutation	SNP	T	TCGA-HC-7745-01A-11D-2114-08	2601347	23312555	84036985	43	9958											
ACTC1	70	broad.mit.edu	37	chr15	35085746	35085746	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcacctacgtaggagtcctTctgacccatacccaccataa	12	9	5	15	1	2	1	1	1	1	0	3	2	3	2	5	1	2	1	5	1	4	5			TCGA-HC-7745-01A-11D-2114-08	TCGA-HC-7745-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e51da70-984c-491f-a9eb-1bbb34f01a49	fabbba2f-92b0-48b5-be7a-e4c9fc08b795	g.chr15:35085746T>G	ENST00000290378.4	-	3	809	c.154A>C	c.(154-156)Aag>Cag	p.K52Q	ACTC1_ENST00000557860.1_5'Flank|RP11-814P5.1_ENST00000503496.1_RNA	NM_005159.4	NP_005150.1	P68032	ACTC_HUMAN	actin, alpha, cardiac muscle 1	52					actin filament-based movement (GO:0030048)|actin-myosin filament sliding (GO:0033275)|actomyosin structure organization (GO:0031032)|apoptotic process (GO:0006915)|ATP catabolic process (GO:0006200)|cardiac muscle contraction (GO:0060048)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|heart contraction (GO:0060047)|muscle filament sliding (GO:0030049)|negative regulation of apoptotic process (GO:0043066)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|skeletal muscle thin filament assembly (GO:0030240)	actin filament (GO:0005884)|actomyosin, actin portion (GO:0042643)|blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|I band (GO:0031674)|membrane (GO:0016020)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|myosin binding (GO:0017022)			central_nervous_system(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	31		all_lung(180;2.3e-08)		all cancers(64;5.83e-19)|GBM - Glioblastoma multiforme(113;1.98e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0244)		TAGGAGTCCTTCTGACCCATA	0.453																																						ENST00000290378.4																			0				central_nervous_system(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	31						c.(154-156)Aag>Cag		actin, alpha, cardiac muscle 1							56	47	50					15																	35085746		2201	4298	6499	SO:0001583	missense	70				apoptosis|cardiac muscle tissue morphogenesis|cardiac myofibril assembly|muscle filament sliding|skeletal muscle thin filament assembly	actomyosin, actin part|cytosol|I band	ATP binding|ATPase activity|myosin binding	g.chr15:35085746T>G	BC009978	CCDS10041.1	15q14	2014-09-17	2006-08-24	2006-08-24	ENSG00000159251	ENSG00000159251			143	protein-coding gene	gene with protein product		102540	"actin, alpha, cardiac muscle"	ACTC		1639426	Standard	NM_005159		Approved	CMD1R	uc001ziu.1	P68032	OTTHUMG00000129675	ENST00000290378.4:c.154A>C	15.37:g.35085746T>G	ENSP00000290378:p.Lys52Gln					RP11-814P5.1_ENST00000503496.1_RNA	p.K52Q	NM_005159.4	NP_005150.1	P68032	ACTC_HUMAN		all cancers(64;5.83e-19)|GBM - Glioblastoma multiforme(113;1.98e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0244)	3	809	-		all_lung(180;2.3e-08)	52					P04270	Missense_Mutation	SNP	ENST00000290378.4	37	c.154A>C	CCDS10041.1	.	.	.	.	.	.	.	.	.	.	T	20.8	4.046696	0.75846	.	.	ENSG00000159251	ENST00000290378;ENST00000544062	D	0.92299	-3.01	5.49	5.49	0.81192	.	0.000000	0.56097	U	0.000039	D	0.96744	0.8937	M	0.89968	3.075	0.58432	D	0.999998	B	0.29552	0.248	P	0.53313	0.723	D	0.96772	0.9569	10	0.87932	D	0	.	15.888	0.79269	0.0:0.0:0.0:1.0	.	52	P68032	ACTC_HUMAN	Q	52	ENSP00000290378:K52Q	ENSP00000290378:K52Q	K	-	1	0	ACTC1	32873038	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	8.040000	0.89188	2.216000	0.71823	0.459000	0.35465	AAG		0.453	ACTC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251876.3	NM_005159		5	27	0	0	0	1	0	5	27					G	35085746	T	G	35085746	3	3	216	1	0	0	0	0	1	0	0	0	195	1792	62	5	999	5	ACTC1	15	35085746	Missense_Mutation	SNP	T	TCGA-HC-7745-01A-11D-2114-08		35085746	67445646	44	9959											
ANKDD1A	348094	broad.mit.edu	37	chr15	65234714	65234714	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aggcacaacttccctgccttGgtccggctcctcatcaactc	7	10	7	17	1	2	0	2	0	0	0	6	0	5	0	4	3	3	2	4	3	2	2			TCGA-HC-7745-01A-11D-2114-08	TCGA-HC-7745-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e51da70-984c-491f-a9eb-1bbb34f01a49	fabbba2f-92b0-48b5-be7a-e4c9fc08b795	g.chr15:65234714G>T	ENST00000380230.3	+	10	947	c.918G>T	c.(916-918)ttG>ttT	p.L306F	ANKDD1A_ENST00000357698.3_Missense_Mutation_p.L306F|ANKDD1A_ENST00000395720.1_Missense_Mutation_p.L306F|ANKDD1A_ENST00000395723.1_Missense_Mutation_p.L215F	NM_182703.3	NP_874362.3	Q495B1	AKD1A_HUMAN	ankyrin repeat and death domain containing 1A	306					signal transduction (GO:0007165)					NS(1)|endometrium(1)|large_intestine(10)|liver(2)|lung(4)|ovary(1)|prostate(2)	21						TCCCTGCCTTGGTCCGGCTCC	0.602																																						ENST00000380230.3																			0				NS(1)|endometrium(1)|large_intestine(10)|liver(2)|lung(4)|ovary(1)|prostate(2)	21						c.(916-918)ttG>ttT		ankyrin repeat and death domain containing 1A							85	56	66					15																	65234714		2202	4299	6501	SO:0001583	missense	348094				signal transduction			g.chr15:65234714G>T		CCDS10197.2	15q22.31	2013-01-10	2006-02-16		ENSG00000166839	ENSG00000166839		"Ankyrin repeat domain containing"	28002	protein-coding gene	gene with protein product						12477932	Standard	NM_182703		Approved	FLJ25870	uc002aoa.3	Q495B1	OTTHUMG00000133051	ENST00000380230.3:c.918G>T	15.37:g.65234714G>T	ENSP00000369579:p.Leu306Phe					ANKDD1A_ENST00000395723.1_Missense_Mutation_p.L215F|ANKDD1A_ENST00000357698.3_Missense_Mutation_p.L306F|ANKDD1A_ENST00000395720.1_Missense_Mutation_p.L306F	p.L306F	NM_182703.3	NP_874362.3	Q495B1	AKD1A_HUMAN			10	947	+			306					Q495B2|Q495B3|Q8N7A0|Q8NBS5	Missense_Mutation	SNP	ENST00000380230.3	37	c.918G>T	CCDS10197.2	.	.	.	.	.	.	.	.	.	.	G	11.64	1.699175	0.30142	.	.	ENSG00000166839	ENST00000380230;ENST00000357698;ENST00000395720;ENST00000395723	T;T;T;T	0.65364	-0.1;-0.15;-0.1;-0.15	4.63	2.64	0.31445	Ankyrin repeat-containing domain (3);	0.122335	0.33813	N	0.004526	T	0.53498	0.1800	L	0.60845	1.875	0.31129	N	0.707932	P	0.39920	0.695	B	0.39617	0.305	T	0.61667	-0.7016	10	0.87932	D	0	-5.5882	5.0961	0.14735	0.1755:0.0:0.6489:0.1756	.	306	Q495B1	AKD1A_HUMAN	F	306;306;306;215	ENSP00000369579:L306F;ENSP00000350329:L306F;ENSP00000379070:L306F;ENSP00000379073:L215F	ENSP00000350329:L306F	L	+	3	2	ANKDD1A	63021767	0.878000	0.30173	0.145000	0.22337	0.786000	0.44442	0.278000	0.18753	1.114000	0.41781	0.561000	0.74099	TTG		0.602	ANKDD1A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256705.2	NM_182703		3	42	1	0	0.0215528	1	0.0218607	3	42					T	65234714	G	T	65234714	3	4	216	1	0	0	0	0	1	0	0	0	624	1339	47	5	956	5	ANKDD1A	15	65234714	Missense_Mutation	SNP	G	TCGA-HC-7745-01A-11D-2114-08	30148968	65234714	37296678	45	9960											
MESP1	55897	broad.mit.edu	37	chr15	90293435	90293435	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcatccaggtctccaacagAgccagcacgtcgcccggaag	10	4	12	15	3	1	1	0	0	1	1	4	2	2	2	4	3	3	2	4	3	2	0			TCGA-HC-7745-01A-11D-2114-08	TCGA-HC-7745-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e51da70-984c-491f-a9eb-1bbb34f01a49	fabbba2f-92b0-48b5-be7a-e4c9fc08b795	g.chr15:90293435A>C	ENST00000300057.4	-	2	825	c.747T>G	c.(745-747)gcT>gcG	p.A249A	MESP1_ENST00000559894.1_5'UTR	NM_018670.3	NP_061140.1	Q9BRJ9	MESP1_HUMAN	mesoderm posterior basic helix-loop-helix transcription factor 1	249					cardiac atrium formation (GO:0003210)|cardiac cell fate determination (GO:0060913)|cardiac muscle cell differentiation (GO:0055007)|cardiac vascular smooth muscle cell differentiation (GO:0060947)|cardiac ventricle formation (GO:0003211)|cardioblast anterior-lateral migration (GO:0003259)|cardioblast migration to the midline involved in heart field formation (GO:0060975)|embryonic heart tube morphogenesis (GO:0003143)|endothelial cell differentiation (GO:0045446)|gastrulation (GO:0007369)|growth involved in heart morphogenesis (GO:0003241)|heart looping (GO:0001947)|lateral mesoderm development (GO:0048368)|mesodermal cell migration (GO:0008078)|negative regulation of endodermal cell fate specification (GO:0042664)|negative regulation of mesodermal cell fate specification (GO:0042662)|negative regulation of transcription, DNA-templated (GO:0045892)|neurogenesis (GO:0022008)|Notch signaling pathway (GO:0007219)|positive regulation of heart induction by negative regulation of canonical Wnt signaling pathway (GO:0090082)|positive regulation of hepatocyte differentiation (GO:0070368)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of Notch signaling pathway involved in heart induction (GO:0035481)|positive regulation of striated muscle cell differentiation (GO:0051155)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|secondary heart field specification (GO:0003139)|signal transduction involved in regulation of gene expression (GO:0023019)|sinoatrial node cell differentiation (GO:0060921)|sinus venosus morphogenesis (GO:0003236)	nucleus (GO:0005634)	enhancer binding (GO:0035326)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|kidney(1)	2	Lung NSC(78;0.0237)|all_lung(78;0.0478)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)			TCTCCAACAGAGCCAGCACGT	0.647																																						ENST00000300057.4																			0				NS(1)|kidney(1)	2						c.(745-747)gcT>gcG		mesoderm posterior 1 homolog (mouse)							75	75	75					15																	90293435		2200	4299	6499	SO:0001819	synonymous_variant	55897				cardiac atrium formation|cardiac cell fate determination|cardiac vascular smooth muscle cell differentiation|cardiac ventricle formation|cardioblast anterior-lateral migration|cardioblast migration to the midline involved in heart field formation|endothelial cell differentiation|gastrulation|growth involved in heart morphogenesis|heart looping|lateral mesoderm development|negative regulation of endodermal cell fate specification|negative regulation of mesodermal cell fate specification|negative regulation of transcription, DNA-dependent|neurogenesis|Notch signaling pathway|positive regulation of heart induction by negative regulation of canonical Wnt receptor signaling pathway|positive regulation of hepatocyte differentiation|positive regulation of Notch signaling pathway|positive regulation of striated muscle cell differentiation|positive regulation of transcription from RNA polymerase II promoter|secondary heart field specification|sinoatrial node cell differentiation|sinus venosus morphogenesis		sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	g.chr15:90293435A>C		CCDS10355.1	15q26.1	2014-06-30	2014-06-30		ENSG00000166823	ENSG00000166823		"Basic helix-loop-helix proteins"	29658	protein-coding gene	gene with protein product		608689	"mesoderm posterior 1 homolog (mouse)"			8787751, 11578861	Standard	NM_018670		Approved	MGC10676, bHLHc5	uc002bol.3	Q9BRJ9	OTTHUMG00000149810	ENST00000300057.4:c.747T>G	15.37:g.90293435A>C						MESP1_ENST00000559894.1_5'UTR	p.A249A	NM_018670.3	NP_061140.1	Q9BRJ9	MESP1_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)		2	825	-	Lung NSC(78;0.0237)|all_lung(78;0.0478)		249					Q9NSF1|Q9NSF2	Silent	SNP	ENST00000300057.4	37	c.747T>G	CCDS10355.1																																																																																				0.647	MESP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313421.1	NM_018670		11	73	0	0	0	1	0	11	73					C	90293435	A	C	90293435	2	2	216	1	0	0	0	0	0	0	0	1	9482	291	11	5		5	MESP1	15	90293435	Silent	SNP	A	TCGA-HC-7745-01A-11D-2114-08	25058721	90293435	12237957	46	9961											
PRKCB	5579	broad.mit.edu	37	chr16	24105528	24105528	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cagaagactgtcagtagagaTttgggattgggatttgacca	12	11	13	5	0	1	4	1	1	0	3	1	7	1	6	1	2	0	1	1	2	2	4			TCGA-HC-7745-01A-11D-2114-08	TCGA-HC-7745-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e51da70-984c-491f-a9eb-1bbb34f01a49	fabbba2f-92b0-48b5-be7a-e4c9fc08b795	g.chr16:24105528T>C	ENST00000321728.7	+	7	906	c.731T>C	c.(730-732)aTt>aCt	p.I244T	PRKCB_ENST00000303531.7_Missense_Mutation_p.I244T|PRKCB_ENST00000482000.1_3'UTR	NM_212535.2	NP_997700.1	P05771	KPCB_HUMAN	protein kinase C, beta	244	C2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				apoptotic process (GO:0006915)|B cell activation (GO:0042113)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|cellular calcium ion homeostasis (GO:0006874)|cellular response to carbohydrate stimulus (GO:0071322)|histone H3-T6 phosphorylation (GO:0035408)|intracellular signal transduction (GO:0035556)|lipoprotein transport (GO:0042953)|negative regulation of glucose transport (GO:0010829)|negative regulation of insulin receptor signaling pathway (GO:0046627)|platelet activation (GO:0030168)|positive regulation of angiogenesis (GO:0045766)|positive regulation of B cell receptor signaling pathway (GO:0050861)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein phosphorylation (GO:0006468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|calcium channel regulator activity (GO:0005246)|chromatin binding (GO:0003682)|histone binding (GO:0042393)|histone kinase activity (H3-T6 specific) (GO:0035403)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein kinase C activity (GO:0004697)|protein kinase C binding (GO:0005080)|protein serine/threonine kinase activity (GO:0004674)|zinc ion binding (GO:0008270)			central_nervous_system(3)|large_intestine(1)|lung(2)|ovary(3)	9					Tamoxifen(DB00675)|Vitamin E(DB00163)	TCAGTAGAGATTTGGGATTGG	0.418																																						ENST00000303531.7																			0				central_nervous_system(3)|large_intestine(1)|lung(2)|ovary(3)	9						c.(730-732)aTt>aCt		protein kinase C, beta	Vitamin E(DB00163)						154	141	145					16																	24105528		2197	4300	6497	SO:0001583	missense	5579				apoptosis|B cell activation|B cell receptor signaling pathway|intracellular signal transduction|lipoprotein transport|platelet activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|synaptic transmission|transcription, DNA-dependent	cytosol|nucleus|plasma membrane	androgen receptor binding|ATP binding|chromatin binding|histone binding|histone kinase activity (H3-T6 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|zinc ion binding	g.chr16:24105528T>C	M13975	CCDS10618.1, CCDS10619.1	16p12	2009-07-10	2008-08-18	2008-08-18	ENSG00000166501	ENSG00000166501	2.7.11.1		9395	protein-coding gene	gene with protein product		176970	"protein kinase C, beta 1"	PRKCB2, PKCB, PRKCB1		3658678	Standard	NM_002738		Approved		uc002dme.3	P05771	OTTHUMG00000131615	ENST00000321728.7:c.731T>C	16.37:g.24105528T>C	ENSP00000318315:p.Ile244Thr					PRKCB_ENST00000321728.7_Missense_Mutation_p.I244T|PRKCB_ENST00000482000.1_3'UTR	p.I244T	NM_002738.6	NP_002729.2	P05771	KPCB_HUMAN			7	883	+			244			C2.		C5IFJ8|D3DWF5|O43744|P05127|Q15138|Q93060|Q9UE49|Q9UE50|Q9UEH8|Q9UJ30|Q9UJ33	Missense_Mutation	SNP	ENST00000321728.7	37	c.731T>C	CCDS10618.1	.	.	.	.	.	.	.	.	.	.	T	17.04	3.287943	0.59976	.	.	ENSG00000166501	ENST00000321728;ENST00000303531	T;T	0.49139	0.79;0.79	5.52	5.52	0.82312	C2 membrane targeting protein (1);C2 region (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.060545	0.64402	D	0.000003	T	0.47525	0.1450	L	0.46885	1.475	0.58432	D	0.999997	B;B	0.20780	0.039;0.048	B;B	0.33121	0.098;0.158	T	0.42430	-0.9452	10	0.42905	T	0.14	.	14.8443	0.70249	0.0:0.0:0.0:1.0	.	244;244	P05771-2;P05771	.;KPCB_HUMAN	T	244	ENSP00000318315:I244T;ENSP00000305355:I244T	ENSP00000305355:I244T	I	+	2	0	PRKCB	24013029	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.643000	0.83403	2.088000	0.63022	0.533000	0.62120	ATT		0.418	PRKCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254504.2	NM_212535		17	52	0	0	0	1	0	17	52					C	24105528	T	C	24105528	3	2	216	1	0	0	0	0	1	0	0	0	12508	1493	52	4	757	4	PRKCB	16	24105528	Missense_Mutation	SNP	T	TCGA-HC-7745-01A-11D-2114-08		24105528	66249225	47	9962											
ZNF785	146540	broad.mit.edu	37	chr16	30594188	30594188	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcttctcgccggtgtgtatgCgcctgtggatggccagcagg	4	10	16	11	3	1	0	0	0	1	0	2	1	1	1	3	4	2	3	3	4	1	2			TCGA-HC-7745-01A-11D-2114-08	TCGA-HC-7745-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e51da70-984c-491f-a9eb-1bbb34f01a49	fabbba2f-92b0-48b5-be7a-e4c9fc08b795	g.chr16:30594188C>A	ENST00000395216.2	-	3	1070	c.911G>T	c.(910-912)cGc>cTc	p.R304L	AC002310.7_ENST00000492040.1_RNA|AC002310.7_ENST00000486926.1_RNA|ZNF785_ENST00000470110.1_Missense_Mutation_p.R289L	NM_152458.6	NP_689671.2	A8K8V0	ZN785_HUMAN	zinc finger protein 785	304					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	9						GGTGTGTATGCGCCTGTGGAT	0.647																																						ENST00000395216.2																			0				endometrium(3)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	9						c.(910-912)cGc>cTc		zinc finger protein 785							54	59	57					16																	30594188		2197	4300	6497	SO:0001583	missense	146540				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:30594188C>A	BC040642	CCDS10685.1	16p11.2	2013-01-08			ENSG00000197162	ENSG00000197162		"Zinc fingers, C2H2-type", "-"	26496	protein-coding gene	gene with protein product						10493829	Standard	NM_152458		Approved	FLJ32130	uc002dyu.3	A8K8V0	OTTHUMG00000132398	ENST00000395216.2:c.911G>T	16.37:g.30594188C>A	ENSP00000378642:p.Arg304Leu					AC002310.7_ENST00000492040.1_RNA|AC002310.7_ENST00000486926.1_RNA|ZNF785_ENST00000470110.1_Missense_Mutation_p.R289L	p.R304L	NM_152458.6	NP_689671.2	A8K8V0	ZN785_HUMAN			3	1070	-			304					O75701|Q8IW91|Q8WV14|Q96MN0	Missense_Mutation	SNP	ENST00000395216.2	37	c.911G>T	CCDS10685.1	.	.	.	.	.	.	.	.	.	.	c	17.06	3.292803	0.60086	.	.	ENSG00000197162	ENST00000470110;ENST00000395222;ENST00000395216	T;T	0.25085	1.82;1.82	4.03	3.04	0.35103	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.38506	0.1043	L	0.47016	1.485	0.09310	N	1	P;D;P	0.89917	0.953;1.0;0.942	P;D;B	0.83275	0.584;0.996;0.348	T	0.11591	-1.0581	9	0.72032	D	0.01	.	4.7595	0.13100	0.2164:0.673:0.0:0.1106	.	269;304;289	B4DQL1;A8K8V0;A8K8V0-2	.;ZN785_HUMAN;.	L	289;269;304	ENSP00000420340:R289L;ENSP00000378642:R304L	ENSP00000378642:R304L	R	-	2	0	ZNF785	30501689	0.000000	0.05858	0.001000	0.08648	0.042000	0.13812	-0.383000	0.07398	0.888000	0.36160	0.644000	0.83932	CGC		0.647	ZNF785-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255529.2	NM_152458		3	47	1	0	0.000602214	1	0.00061967	3	47					A	30594188	C	A	30594188	3	1	216	1	0	0	0	0	1	0	0	0	18154	768	27	5	310	5	ZNF785	16	30594188	Missense_Mutation	SNP	C	TCGA-HC-7745-01A-11D-2114-08	6488660	30594188	59760565	48	9963											
SCRN2	90507	broad.mit.edu	37	chr17	45916217	45916217	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggccttggcagcctccatgcGcacaggctgctgggtcaggg	5	7	16	13	1	1	0	1	0	0	0	2	0	2	0	3	5	3	4	3	5	0	1			TCGA-HC-7745-01A-11D-2114-08	TCGA-HC-7745-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e51da70-984c-491f-a9eb-1bbb34f01a49	fabbba2f-92b0-48b5-be7a-e4c9fc08b795	g.chr17:45916217G>A	ENST00000290216.9	-	5	837	c.712C>T	c.(712-714)Cgc>Tgc	p.R238C	SCRN2_ENST00000407215.3_Missense_Mutation_p.R238C|SCRN2_ENST00000584123.1_Missense_Mutation_p.R246C	NM_001145023.1|NM_138355.3	NP_001138495.1|NP_612364.2	Q96FV2	SCRN2_HUMAN	secernin 2	238						extracellular vesicular exosome (GO:0070062)	dipeptidase activity (GO:0016805)			cervix(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|skin(1)	14						GCCTCCATGCGCACAGGCTGC	0.672																																						ENST00000407215.3																			0				cervix(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|skin(1)	14						c.(712-714)Cgc>Tgc		secernin 2							76	80	78					17																	45916217		2203	4300	6503	SO:0001583	missense	90507				proteolysis		dipeptidase activity	g.chr17:45916217G>A	BC002980	CCDS11519.1, CCDS45723.1	17q21	2008-02-05							30381	protein-coding gene	gene with protein product		614966				12221138	Standard	NM_001145023		Approved		uc002imd.3	Q96FV2		ENST00000290216.9:c.712C>T	17.37:g.45916217G>A	ENSP00000290216:p.Arg238Cys					SCRN2_ENST00000290216.9_Missense_Mutation_p.R238C|SCRN2_ENST00000584123.1_Missense_Mutation_p.R246C	p.R238C			Q96FV2	SCRN2_HUMAN			5	793	-			238					A8K3N1|B7Z8S7|E9PBV5|Q96AC3|Q9BU04	Missense_Mutation	SNP	ENST00000290216.9	37	c.712C>T	CCDS11519.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.391200	0.82902	.	.	ENSG00000141295	ENST00000290216;ENST00000407215	T;T	0.09911	3.08;2.93	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	T	0.37625	0.1010	M	0.81802	2.56	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	T	0.11227	-1.0596	10	0.56958	D	0.05	-25.7155	18.197	0.89825	0.0:0.0:1.0:0.0	.	238;238;238	E9PBV5;Q96FV2;B7Z8S7	.;SCRN2_HUMAN;.	C	238	ENSP00000290216:R238C;ENSP00000383935:R238C	ENSP00000290216:R238C	R	-	1	0	SCRN2	43271216	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	4.415000	0.59809	2.588000	0.87417	0.655000	0.94253	CGC		0.672	SCRN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441383.1	NM_138355		5	136	0	0	0	1	0	5	136					A	45916217	G	A	45916217	3	1	216	1	0	0	0	0	1	0	0	0	13939	1087	38	1	599	1	SCRN2	17	45916217	Missense_Mutation	SNP	G	TCGA-HC-7745-01A-11D-2114-08		45916217	35278993	49	9964											
MTMR4	9110	broad.mit.edu	37	chr17	56585536	56585536	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctcacctatacacaaccacGggaatccgcttccaggagcg	11	6	8	16	3	1	0	1	0	0	0	3	2	3	2	5	2	3	1	5	2	4	3	rs371605696		TCGA-HC-7745-01A-11D-2114-08	TCGA-HC-7745-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e51da70-984c-491f-a9eb-1bbb34f01a49	fabbba2f-92b0-48b5-be7a-e4c9fc08b795	g.chr17:56585536G>A	ENST00000323456.5	-	8	775	c.651C>T	c.(649-651)ccC>ccT	p.P217P	MTMR4_ENST00000579925.1_Silent_p.P217P	NM_004687.4	NP_004678.3	Q9NYA4	MTMR4_HUMAN	myotubularin related protein 4	217	Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}.				negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|protein dephosphorylation (GO:0006470)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|small molecule metabolic process (GO:0044281)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytosol (GO:0005829)|early endosome membrane (GO:0031901)|extracellular space (GO:0005615)	metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)			breast(10)|endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|skin(5)	36	Medulloblastoma(34;0.127)|all_neural(34;0.237)					ACACAACCACGGGAATCCGCT	0.522																																						ENST00000323456.5																			0				breast(10)|endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|skin(5)	36						c.(649-651)ccC>ccT		myotubularin related protein 4		G		0,4406		0,0,2203	64	60	61		651	-6.1	0.9	17		61	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	MTMR4	NM_004687.4		0,2,6501	AA,AG,GG		0.0233,0.0,0.0154		217/1196	56585536	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	9110					cytoplasm|membrane	metal ion binding|protein tyrosine phosphatase activity	g.chr17:56585536G>A	AB014547	CCDS11608.1	17q22-q23	2011-06-09				ENSG00000108389		"Zinc fingers, FYVE domain containing", "Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"	7452	protein-coding gene	gene with protein product		603559				9736772	Standard	NM_004687		Approved	KIAA0647, ZFYVE11	uc002iwj.2	Q9NYA4		ENST00000323456.5:c.651C>T	17.37:g.56585536G>A						MTMR4_ENST00000579925.1_Silent_p.P217P	p.P217P	NM_004687.4	NP_004678.3	Q9NYA4	MTMR4_HUMAN			8	775	-	Medulloblastoma(34;0.127)|all_neural(34;0.237)		217			Myotubularin phosphatase.		D3DTZ6|Q8IV27|Q9Y4D5	Silent	SNP	ENST00000323456.5	37	c.651C>T	CCDS11608.1																																																																																				0.522	MTMR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444721.1	NM_004687		33	82	0	0	0	1	0	33	82					A	56585536	G	A	56585536	2	1	216	1	0	0	0	0	0	0	0	1	9946	1103	39	2		2	MTMR4	17	56585536	Silent	SNP	G	TCGA-HC-7745-01A-11D-2114-08	10669319	56585536	24609674	50	9965											
ZNF780A	284323	broad.mit.edu	37	chr19	40580582	40580582	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtcgaaaggctttcccacaCtccttacattcaaagggttt	11	12	7	11	1	1	0	1	0	0	0	4	1	3	0	2	2	1	2	2	2	3	4			TCGA-HC-7745-01A-11D-2114-08	TCGA-HC-7745-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e51da70-984c-491f-a9eb-1bbb34f01a49	fabbba2f-92b0-48b5-be7a-e4c9fc08b795	g.chr19:40580582C>T	ENST00000595687.2	-	6	1976	c.1767G>A	c.(1765-1767)gaG>gaA	p.E589E	AC005614.5_ENST00000595508.1_RNA|ZNF780A_ENST00000450241.2_Silent_p.E555E|ZNF780A_ENST00000594395.1_Silent_p.E590E|ZNF780A_ENST00000455521.1_Silent_p.E590E|ZNF780A_ENST00000340963.5_Silent_p.E589E|ZNF780A_ENST00000414720.2_Intron	NM_001010880.2	NP_001010880.2	O75290	Z780A_HUMAN	zinc finger protein 780A	589					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|upper_aerodigestive_tract(3)|urinary_tract(1)	31	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					CTTTCCCACACTCCTTACATT	0.393																																						ENST00000450241.2																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|upper_aerodigestive_tract(3)|urinary_tract(1)	31						c.(1663-1665)gaG>gaA		zinc finger protein 780A							144	143	143					19																	40580582		2203	4300	6503	SO:0001819	synonymous_variant	284323				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:40580582C>T	AK091274	CCDS33026.2, CCDS46078.1, CCDS46079.1	19q13.2	2014-02-12	2006-08-15		ENSG00000197782	ENSG00000197782		"Zinc fingers, C2H2-type", "-"	27603	protein-coding gene	gene with protein product							Standard	NM_001142577		Approved	ZNF780	uc010xvh.2	O75290	OTTHUMG00000155119	ENST00000595687.2:c.1767G>A	19.37:g.40580582C>T						ZNF780A_ENST00000594395.1_Silent_p.E590E|ZNF780A_ENST00000455521.1_Silent_p.E590E|ZNF780A_ENST00000414720.2_Intron|ZNF780A_ENST00000340963.5_Silent_p.E589E|ZNF780A_ENST00000595687.2_Silent_p.E589E|AC005614.5_ENST00000595508.1_RNA	p.E555E			O75290	Z780A_HUMAN			6	1976	-	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)		589					E9PB48|Q6ZN87	Silent	SNP	ENST00000595687.2	37	c.1665G>A	CCDS33026.2																																																																																				0.393	ZNF780A-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000470066.1	NM_001010880		5	174	0	0	0	1	0	5	174					T	40580582	C	T	40580582	2	4	216	1	0	0	0	0	0	0	0	1	18149	564	20	3		3	ZNF780A	19	40580582	Silent	SNP	C	TCGA-HC-7745-01A-11D-2114-08		40580582	18548401	51	9966											
GPR4	2828	broad.mit.edu	37	chr19	46095073	46095073	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtagagggatggcggaaagaGgtggtccacgcgcgagtcca	10	5	18	8	4	0	2	0	0	0	2	2	5	2	4	2	5	0	1	2	5	2	1			TCGA-HC-7745-01A-11D-2114-08	TCGA-HC-7745-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e51da70-984c-491f-a9eb-1bbb34f01a49	fabbba2f-92b0-48b5-be7a-e4c9fc08b795	g.chr19:46095073G>A	ENST00000323040.4	-	2	996	c.52C>T	c.(52-54)Ctc>Ttc	p.L18F	OPA3_ENST00000544371.1_Intron|GPR4_ENST00000591614.1_5'Flank	NM_005282.2	NP_005273.1	P46093	GPR4_HUMAN	G protein-coupled receptor 4	18					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(2)|endometrium(1)|kidney(3)|large_intestine(1)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(262;0.0071)|GBM - Glioblastoma multiforme(486;0.128)|Epithelial(262;0.223)		GGCGGAAAGAGGTGGTCCACG	0.672																																					Esophageal Squamous(117;181 1612 1673 14956 42937)	ENST00000323040.4																			0				breast(2)|endometrium(1)|kidney(3)|large_intestine(1)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						c.(52-54)Ctc>Ttc		G protein-coupled receptor 4							53	42	46					19																	46095073		2203	4300	6503	SO:0001583	missense	2828					integral to plasma membrane	G-protein coupled receptor activity	g.chr19:46095073G>A	BC067536	CCDS12669.1	19q13.3	2012-08-21				ENSG00000177464		"GPCR / Class A : Orphans"	4497	protein-coding gene	gene with protein product		600551				8595909	Standard	NM_005282		Approved		uc002pcm.3	P46093		ENST00000323040.4:c.52C>T	19.37:g.46095073G>A	ENSP00000319744:p.Leu18Phe					OPA3_ENST00000544371.1_Intron	p.L18F	NM_005282.2	NP_005273.1	P46093	GPR4_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0071)|GBM - Glioblastoma multiforme(486;0.128)|Epithelial(262;0.223)	2	996	-			18					A8K3T3|B0M0K1|Q6NWM4	Missense_Mutation	SNP	ENST00000323040.4	37	c.52C>T	CCDS12669.1	.	.	.	.	.	.	.	.	.	.	G	3.403	-0.121814	0.06838	.	.	ENSG00000177464	ENST00000323040	T	0.39056	1.1	5.11	5.11	0.69529	.	0.090651	0.44688	D	0.000427	T	0.22820	0.0551	N	0.08118	0	0.33709	D	0.615539	B	0.14012	0.009	B	0.09377	0.004	T	0.24083	-1.0170	10	0.26408	T	0.33	.	11.8559	0.52437	0.0:0.1768:0.8232:0.0	.	18	P46093	GPR4_HUMAN	F	18	ENSP00000319744:L18F	ENSP00000319744:L18F	L	-	1	0	GPR4	50786913	1.000000	0.71417	1.000000	0.80357	0.180000	0.23129	1.723000	0.38053	2.365000	0.80145	0.313000	0.20887	CTC		0.672	GPR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459603.1	NM_005282		10	59	0	0	0	1	0	10	59					A	46095073	G	A	46095073	3	1	216	1	0	0	0	0	1	0	0	0	6694	1000	35	3	1040	3	GPR4	19	46095073	Missense_Mutation	SNP	G	TCGA-HC-7745-01A-11D-2114-08	5514491	46095073	13033910	52	9967											
DOPEY2	9980	broad.mit.edu	37	chr21	37617884	37617884	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gaggaggcggacttggagctCcaggccctcaccacatccag	9	5	13	14	1	1	0	1	0	0	0	3	4	3	3	4	5	1	1	4	5	0	1	rs112487012		TCGA-HC-7745-01A-11D-2114-08	TCGA-HC-7745-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e51da70-984c-491f-a9eb-1bbb34f01a49	fabbba2f-92b0-48b5-be7a-e4c9fc08b795	g.chr21:37617884C>T	ENST00000399151.3	+	19	3691	c.3606C>T	c.(3604-3606)ctC>ctT	p.L1202L		NM_005128.2	NP_005119.2	Q9Y3R5	DOP2_HUMAN	dopey family member 2	1202					cognition (GO:0050890)|endoplasmic reticulum organization (GO:0007029)|Golgi to endosome transport (GO:0006895)|multicellular organismal development (GO:0007275)|protein transport (GO:0015031)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						ACTTGGAGCTCCAGGCCCTCA	0.622																																						ENST00000399151.3																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						c.(3604-3606)ctC>ctT		dopey family member 2							45	41	42					21																	37617884		2203	4300	6503	SO:0001819	synonymous_variant	9980				endoplasmic reticulum organization|Golgi to endosome transport|multicellular organismal development|protein transport	Golgi membrane		g.chr21:37617884C>T	AJ237839	CCDS13643.1	21q22.2	2013-03-05	2006-02-02	2006-02-02	ENSG00000142197	ENSG00000142197			1291	protein-coding gene	gene with protein product		604803	"chromosome 21 open reading frame 5"	C21orf5		16301316, 16303751, 10931277	Standard	NM_005128		Approved	KIAA0933	uc002yvg.3	Q9Y3R5	OTTHUMG00000086619	ENST00000399151.3:c.3606C>T	21.37:g.37617884C>T							p.L1202L	NM_005128.2	NP_005119.2	Q9Y3R5	DOP2_HUMAN			19	3691	+			1202					D3DSG5|Q6PJQ7|Q9UEZ3	Silent	SNP	ENST00000399151.3	37	c.3606C>T	CCDS13643.1																																																																																				0.622	DOPEY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194636.1	NM_005128		4	35	0	0	0	1	0	4	35					T	37617884	C	T	37617884	2	4	216	1	0	0	0	0	0	0	0	1	4708	842	30	3		3	DOPEY2	21	37617884	Silent	SNP	C	TCGA-HC-7745-01A-11D-2114-08		37617884	10512011	53	9968											
ASMT	438	broad.mit.edu	37	chrX	1755354	1755354	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	atttcttcaaagaccctcttCcggaagctgatctgtacatc	10	13	6	12	1	4	2	1	1	3	1	6	3	5	3	2	1	2	2	2	1	3	4			TCGA-HC-7745-01A-11D-2114-08	TCGA-HC-7745-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e51da70-984c-491f-a9eb-1bbb34f01a49	fabbba2f-92b0-48b5-be7a-e4c9fc08b795	g.chrX:1755354C>T	ENST00000381229.4	+	7	763	c.727C>T	c.(727-729)Ccg>Tcg	p.P243S	ASMT_ENST00000381241.3_Missense_Mutation_p.P271S|ASMT_ENST00000509780.1_3'UTR|ASMT_ENST00000381233.3_Missense_Mutation_p.P196S			P46597	ASMT_HUMAN	acetylserotonin O-methyltransferase	243			P -> L (functional polymorphism with reduced enzyme activity; dbSNP:rs121918826). {ECO:0000269|PubMed:21251267, ECO:0000269|PubMed:22694957, ECO:0000269|PubMed:23349736}.		cellular nitrogen compound metabolic process (GO:0034641)|indolalkylamine biosynthetic process (GO:0046219)|melatonin biosynthetic process (GO:0030187)|negative regulation of male gonad development (GO:2000019)|small molecule metabolic process (GO:0044281)|translation (GO:0006412)	cytosol (GO:0005829)	acetylserotonin O-methyltransferase activity (GO:0017096)|identical protein binding (GO:0042802)|O-methyltransferase activity (GO:0008171)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|skin(1)	16		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Melatonin(DB01065)	AGACCCTCTTCCGGAAGCTGA	0.542																																						ENST00000381241.3																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|skin(1)	16						c.(811-813)Ccg>Tcg		acetylserotonin O-methyltransferase							302	273	283					X																	1755354		2203	4296	6499	SO:0001583	missense	438				melatonin biosynthetic process|translation	cytosol	acetylserotonin O-methyltransferase activity|S-methyltransferase activity	g.chrX:1755354C>T	M83779	CCDS14117.1, CCDS55364.1	Xp22.3 and Yp11.3	2008-02-05			ENSG00000196433	ENSG00000196433	2.1.1.4	"Pseudoautosomal regions / PAR1"	750	protein-coding gene	gene with protein product		300015, 402500				8397829, 7989373	Standard	NM_004043		Approved	HIOMT, ASMTY, HIOMTY	uc010ncy.3	P46597	OTTHUMG00000021065	ENST00000381229.4:c.727C>T	X.37:g.1755354C>T	ENSP00000370627:p.Pro243Ser					ASMT_ENST00000381229.4_Missense_Mutation_p.P243S|ASMT_ENST00000381233.3_Missense_Mutation_p.P196S|RP13-297E16.3_ENST00000509780.1_RNA	p.P271S	NM_001171038.1|NM_004043.2	NP_001164509.1|NP_004034.2	P46597	HIOM_HUMAN			8	1010	+		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)	243					B2RC33|Q16598|Q5JQ72|Q5JQ73	Missense_Mutation	SNP	ENST00000381229.4	37	c.811C>T		.	.	.	.	.	.	.	.	.	.	c	12.85	2.062455	0.36373	.	.	ENSG00000196433	ENST00000381241;ENST00000381229;ENST00000381233;ENST00000432523	T;T;T;T	0.81415	-1.49;-1.49;-1.49;-1.49	2.33	2.33	0.28932	.	0.119825	0.56097	U	0.000021	D	0.91395	0.7285	H	0.94582	3.555	0.09310	N	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.84283	0.0495	10	0.72032	D	0.01	.	12.6028	0.56506	0.0:1.0:0.0:0.0	.	196;271	P46597-2;P46597-3	.;.	S	271;243;196;22	ENSP00000370639:P271S;ENSP00000370627:P243S;ENSP00000370631:P196S;ENSP00000392053:P22S	ENSP00000370627:P243S	P	+	1	0	ASMT	1715354	0.998000	0.40836	0.017000	0.16124	0.068000	0.16541	5.597000	0.67577	0.958000	0.37956	0.453000	0.30009	CCG		0.542	ASMT-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000055612.1	NM_004043		17	267	0	0	0	1	0	17	267					T	1755354	C	T	1755354	3	4	216	1	0	0	0	0	1	0	0	0	1045	855	30	3	841	3	ASMT	23	1755354	Missense_Mutation	SNP	C	TCGA-HC-7745-01A-11D-2114-08		1755354	153515206	54	9969											
HTR2C	3358	broad.mit.edu	37	chrX	113965800	113965800	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaatacctccgatggtggaCgcttcaaattcccagacggg	10	9	10	12	3	2	1	2	0	0	1	4	3	4	2	3	3	1	1	3	3	3	3			TCGA-HC-7745-01A-11D-2114-08	TCGA-HC-7745-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e51da70-984c-491f-a9eb-1bbb34f01a49	fabbba2f-92b0-48b5-be7a-e4c9fc08b795	g.chrX:113965800C>T	ENST00000276198.1	+	4	861	c.133C>T	c.(133-135)Cgc>Tgc	p.R45C	HTR2C_ENST00000371950.3_Missense_Mutation_p.R45C|HTR2C_ENST00000371951.1_Missense_Mutation_p.R45C	NM_000868.2	NP_000859.1	P28335	5HT2C_HUMAN	5-hydroxytryptamine (serotonin) receptor 2C, G protein-coupled	45					behavioral fear response (GO:0001662)|cellular calcium ion homeostasis (GO:0006874)|cGMP biosynthetic process (GO:0006182)|feeding behavior (GO:0007631)|locomotory behavior (GO:0007626)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|phospholipase C-activating serotonin receptor signaling pathway (GO:0007208)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of phosphatidylinositol biosynthetic process (GO:0010513)|regulation of appetite (GO:0032098)|regulation of corticotropin-releasing hormone secretion (GO:0043397)|regulation of neurological system process (GO:0031644)|release of sequestered calcium ion into cytosol (GO:0051209)|response to drug (GO:0042493)|serotonin receptor signaling pathway (GO:0007210)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding (GO:0071886)|drug binding (GO:0008144)|Gq/11-coupled serotonin receptor activity (GO:0001587)|serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50					Agomelatine(DB06594)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Clomipramine(DB01242)|Clozapine(DB00363)|Cyproheptadine(DB00434)|Desipramine(DB01151)|Dexfenfluramine(DB01191)|Doxepin(DB01142)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Imipramine(DB00458)|Ketamine(DB01221)|Lisuride(DB00589)|Lorcaserin(DB04871)|Loxapine(DB00408)|Maprotiline(DB00934)|Methotrimeprazine(DB01403)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Pramipexole(DB00413)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Ropinirole(DB00268)|Sertindole(DB06144)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Yohimbine(DB01392)|Ziprasidone(DB00246)	CGATGGTGGACGCTTCAAATT	0.443																																						ENST00000276198.1																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50						c.(133-135)Cgc>Tgc		5-hydroxytryptamine (serotonin) receptor 2C, G protein-coupled	Chlorprothixene(DB01239)|Clozapine(DB00363)|Dexfenfluramine(DB01191)|Fenfluramine(DB00574)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Sertindole(DB06144)|Thiethylperazine(DB00372)|Tramadol(DB00193)|Ziprasidone(DB00246)						139	125	130					X																	113965800		2203	4300	6503	SO:0001583	missense	3358				cGMP biosynthetic process|ERK1 and ERK2 cascade|feeding behavior|phosphatidylinositol biosynthetic process|release of sequestered calcium ion into cytosol|response to drug|synaptic transmission	cytoplasm|integral to membrane|nucleus|plasma membrane	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding|drug binding|phosphatidylinositol phospholipase C activity|protein binding|serotonin binding|serotonin receptor activity	g.chrX:113965800C>T		CCDS14564.1, CCDS59174.1	Xq23	2013-12-19	2012-02-03		ENSG00000147246	ENSG00000147246		"5-HT (serotonin) receptors", "GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"	5295	protein-coding gene	gene with protein product		312861	"5-hydroxytryptamine (serotonin) receptor 2C"	HTR1C		7895773	Standard	NM_000868		Approved	5-HT2C, 5HTR2C	uc004epu.1	P28335	OTTHUMG00000022226	ENST00000276198.1:c.133C>T	X.37:g.113965800C>T	ENSP00000276198:p.Arg45Cys					HTR2C_ENST00000371951.1_Missense_Mutation_p.R45C|HTR2C_ENST00000371950.3_Missense_Mutation_p.R45C	p.R45C	NM_000868.2	NP_000859.1	P28335	5HT2C_HUMAN			4	861	+			45					B1AMW4|Q5VUF8|Q9NP28	Missense_Mutation	SNP	ENST00000276198.1	37	c.133C>T	CCDS14564.1	.	.	.	.	.	.	.	.	.	.	C	18.40	3.614811	0.66672	.	.	ENSG00000147246	ENST00000276198;ENST00000371951;ENST00000371950	T;T;T	0.58652	0.32;0.32;0.61	5.03	5.03	0.67393	.	0.412917	0.23826	N	0.044184	T	0.56411	0.1983	N	0.14661	0.345	0.34802	D	0.7368	D;D	0.89917	1.0;0.985	D;B	0.66979	0.948;0.301	T	0.66806	-0.5830	10	0.54805	T	0.06	.	9.9207	0.41462	0.2026:0.7974:0.0:0.0	.	45;45	B1AMW4;P28335	.;5HT2C_HUMAN	C	45	ENSP00000276198:R45C;ENSP00000361019:R45C;ENSP00000361018:R45C	ENSP00000276198:R45C	R	+	1	0	HTR2C	113872056	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.296000	0.33389	2.466000	0.83321	0.594000	0.82650	CGC		0.443	HTR2C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057962.1	NM_000868		25	75	0	0	0	1	0	25	75					T	113965800	C	T	113965800	3	4	216	1	0	0	0	0	1	0	0	0	7443	536	19	1	139	1	HTR2C	23	113965800	Missense_Mutation	SNP	C	TCGA-HC-7745-01A-11D-2114-08	112210446	113965800	41304760	55	9970											
MTHFR	4524	broad.mit.edu	37	chr1	11860307	11860307	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agtagtcaccaaactcacttCggatgtgcttcaccaggtcc	10	10	8	13	1	3	0	3	0	0	0	5	1	4	1	3	2	2	2	3	2	2	3	rs574132670		TCGA-HC-7747-01A-11D-2114-08	TCGA-HC-7747-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85714546-69c0-468e-b38a-3e0e886d44c7	67cdd8c3-0dbd-4b0d-87c3-49c9e86c24f6	g.chr1:11860307C>T	ENST00000376592.1	-	3	676	c.548G>A	c.(547-549)cGa>cAa	p.R183Q	MTHFR_ENST00000376590.3_Missense_Mutation_p.R183Q|MTHFR_ENST00000376585.1_Missense_Mutation_p.R224Q|MTHFR_ENST00000376583.3_Missense_Mutation_p.R224Q			P42898	MTHR_HUMAN	methylenetetrahydrofolate reductase (NAD(P)H)	183					blood circulation (GO:0008015)|cellular amino acid metabolic process (GO:0006520)|folic acid metabolic process (GO:0046655)|homocysteine metabolic process (GO:0050667)|methionine biosynthetic process (GO:0009086)|response to drug (GO:0042493)|response to folic acid (GO:0051593)|response to hypoxia (GO:0001666)|response to interleukin-1 (GO:0070555)|response to vitamin B2 (GO:0033274)|S-adenosylmethionine metabolic process (GO:0046500)|small molecule metabolic process (GO:0044281)|tetrahydrofolate interconversion (GO:0035999)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|neuron projection (GO:0043005)	flavin adenine dinucleotide binding (GO:0050660)|methylenetetrahydrofolate reductase (NAD(P)H) activity (GO:0004489)|modified amino acid binding (GO:0072341)|NADP binding (GO:0050661)			NS(4)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	33	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00826)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649)	Benazepril(DB00542)|Cyanocobalamin(DB00115)|Fluorouracil(DB00544)|Folic Acid(DB00158)|L-Methionine(DB00134)|Menadione(DB00170)|Methotrexate(DB00563)|Riboflavin(DB00140)|Tetrahydrofolic acid(DB00116)	AAACTCACTTCGGATGTGCTT	0.567													C|||	1	0.000199681	0	0	5008	,	,		20887	0		0	False		,,,				2504	0.001					ENST00000376592.1																			0				NS(4)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	33						c.(547-549)cGa>cAa		methylenetetrahydrofolate reductase (NAD(P)H)	Benazepril(DB00542)|Cyanocobalamin(DB00115)|Folic Acid(DB00158)|L-Methionine(DB00134)|Menadione(DB00170)|Methotrexate(DB00563)|Pyridoxal Phosphate(DB00114)|Pyridoxine(DB00165)|Raltitrexed(DB00293)|Riboflavin(DB00140)|S-Adenosylmethionine(DB00118)|Tetrahydrofolic acid(DB00116)						366	277	307					1																	11860307		2203	4300	6503	SO:0001583	missense	4524				blood circulation|folic acid metabolic process	cytosol	methylenetetrahydrofolate reductase (NADPH) activity|protein binding	g.chr1:11860307C>T	BC053509	CCDS137.1	1p36.3	2014-09-17	2010-05-04		ENSG00000177000	ENSG00000177000	1.5.1.20		7436	protein-coding gene	gene with protein product		607093	"5,10-methylenetetrahydrofolate reductase (NADPH)"			7920641	Standard	NM_005957		Approved		uc001atc.2	P42898	OTTHUMG00000002277	ENST00000376592.1:c.548G>A	1.37:g.11860307C>T	ENSP00000365777:p.Arg183Gln					MTHFR_ENST00000376583.3_Missense_Mutation_p.R224Q|MTHFR_ENST00000376585.1_Missense_Mutation_p.R224Q|MTHFR_ENST00000376590.3_Missense_Mutation_p.R183Q	p.R183Q			P42898	MTHR_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649)	3	676	-	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00826)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	183					B2R7A6|Q5SNW6|Q5SNW9|Q7Z6M6|Q8IU73|Q9UQR2	Missense_Mutation	SNP	ENST00000376592.1	37	c.548G>A	CCDS137.1	.	.	.	.	.	.	.	.	.	.	C	37	6.102810	0.97286	.	.	ENSG00000177000	ENST00000376592;ENST00000376583;ENST00000376590;ENST00000376585	D;D;D;D	0.93133	-3.17;-3.17;-3.17;-3.17	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	D	0.96944	0.9002	M	0.82433	2.59	0.80722	D	1	D;D	0.89917	0.998;1.0	D;D	0.78314	0.945;0.991	D	0.97196	0.9861	10	0.87932	D	0	.	18.5335	0.91001	0.0:1.0:0.0:0.0	.	183;224	P42898;Q5SNW6	MTHR_HUMAN;.	Q	183;224;183;224	ENSP00000365777:R183Q;ENSP00000365767:R224Q;ENSP00000365775:R183Q;ENSP00000365770:R224Q	ENSP00000365767:R224Q	R	-	2	0	MTHFR	11782894	1.000000	0.71417	0.967000	0.41034	0.985000	0.73830	7.183000	0.77697	2.735000	0.93741	0.549000	0.68633	CGA		0.567	MTHFR-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000006538.1	NM_005957		5	266	0	0	0	1	0	5	266					T	11860307	C	T	11860307	3	4	217	1	0	0	0	0	1	0	0	0	9931	884	31	2	1458	2	MTHFR	1	11860307	Missense_Mutation	SNP	C	TCGA-HC-7747-01A-11D-2114-08		11860307	237390314	1	9971											
HNRNPCL1	343069	broad.mit.edu	37	chr1	12908039	12908039	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgccatacttggaaaagatcGcctccacatccgatttcttg	10	12	7	12	2	1	1	0	0	1	1	4	3	3	2	4	1	2	0	4	1	3	4			TCGA-HC-7747-01A-11D-2114-08	TCGA-HC-7747-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85714546-69c0-468e-b38a-3e0e886d44c7	67cdd8c3-0dbd-4b0d-87c3-49c9e86c24f6	g.chr1:12908039G>A	ENST00000317869.6	-	2	329	c.104C>T	c.(103-105)gCg>gTg	p.A35V		NM_001013631.1|NM_001136561.2|NM_001146181.1	NP_001013653.1|NP_001130033.2|NP_001139653.1	O60812	HNRC1_HUMAN	heterogeneous nuclear ribonucleoprotein C-like 1	35	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.					nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|stomach(2)	29						GGAAAAGATCGCCTCCACATC	0.473																																						ENST00000317869.6																			0				NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|stomach(2)	29						c.(103-105)gCg>gTg		heterogeneous nuclear ribonucleoprotein C-like 1							171	158	163					1																	12908039		2203	4300	6503	SO:0001583	missense	343069							g.chr1:12908039G>A	BC002696	CCDS30591.1	1p36.21	2013-02-12		2008-04-18	ENSG00000179172	ENSG00000179172		"RNA binding motif (RRM) containing"	29295	protein-coding gene	gene with protein product				HNRPCL1			Standard	NM_001013631		Approved			O60812	OTTHUMG00000001931	ENST00000317869.6:c.104C>T	1.37:g.12908039G>A	ENSP00000365370:p.Ala35Val						p.A35V	NM_001013631.1|NM_001136561.2|NM_001146181.1	NP_001013653.1|NP_001130033.2|NP_001139653.1					2	329	-								B2RP44	Missense_Mutation	SNP	ENST00000317869.6	37	c.104C>T	CCDS30591.1	.	.	.	.	.	.	.	.	.	.	g	13.89	2.370748	0.42003	.	.	ENSG00000179172	ENST00000317869	T	0.17054	2.3	1.09	-1.27	0.09347	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.132742	0.49305	N	0.000153	T	0.09024	0.0223	L	0.34521	1.04	0.32473	N	0.542534	P	0.44195	0.828	B	0.37780	0.258	T	0.29212	-1.0019	10	0.33940	T	0.23	.	5.3693	0.16131	0.39:0.0:0.61:0.0	.	35	O60812	HNRCL_HUMAN	V	35	ENSP00000365370:A35V	ENSP00000365370:A35V	A	-	2	0	HNRNPCL1	12830626	1.000000	0.71417	0.004000	0.12327	0.045000	0.14185	4.843000	0.62838	-0.384000	0.07845	-0.505000	0.04504	GCG		0.473	HNRNPCL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005462.1	NM_001013631		6	184	0	0	0	1	0	6	184					A	12908039	G	A	12908039	3	1	217	1	0	0	0	0	1	0	0	0	7263	1087	38	1	779	1	HNRNPCL1	1	12908039	Missense_Mutation	SNP	G	TCGA-HC-7747-01A-11D-2114-08	1047732	12908039	236342582	2	9972											
DEM1	64789	broad.mit.edu	37	chr1	40980662	40980663	+	Frame_Shift_Del	DEL	AC	AC	-																															ttgggcaattaagtttctgaAcatacttttgctgattccta																										TCGA-HC-7747-01A-11D-2114-08	TCGA-HC-7747-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85714546-69c0-468e-b38a-3e0e886d44c7	67cdd8c3-0dbd-4b0d-87c3-49c9e86c24f6	g.chr1:40980662_40980663delAC	ENST00000372703.1	+	2	1520_1521	c.446_447delAC	c.(445-447)aacfs	p.N149fs	RP11-656D10.5_ENST00000453437.1_RNA|EXO5_ENST00000358527.2_Frame_Shift_Del_p.N149fs|EXO5_ENST00000296380.4_Frame_Shift_Del_p.N149fs|RP11-656D10.6_ENST00000437060.1_RNA			Q9H790	EXO5_HUMAN	exonuclease 5	149					DNA catabolic process, exonucleolytic (GO:0000738)|interstrand cross-link repair (GO:0036297)	cytosol (GO:0005829)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|single-stranded DNA 3'-5' exodeoxyribonuclease activity (GO:0008310)|single-stranded DNA 5'-3' exodeoxyribonuclease activity (GO:0045145)										AAGTTTCTGAACATACTTTTGC	0.46																																						ENST00000372703.1																			0											c.(445-447)afs		exonuclease 5																																				SO:0001589	frameshift_variant	64789							g.chr1:40980662_40980663delAC	AK024797	CCDS453.1	1p34.2	2012-11-02	2012-10-30	2012-10-30	ENSG00000164002	ENSG00000164002			26115	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 176", "defects in morphology 1 homolog (S. cerevisiae)"	C1orf176, DEM1		23095756	Standard	NM_022774		Approved	FLJ21144	uc001cfp.3	Q9H790	OTTHUMG00000007305	ENST00000372703.1:c.446_447delAC	1.37:g.40980662_40980663delAC	ENSP00000361788:p.Asn149fs					EXO5_ENST00000296380.4_Frame_Shift_Del_p.N149fs|RP11-656D10.5_ENST00000453437.1_RNA|EXO5_ENST00000358527.2_Frame_Shift_Del_p.N149fs	p.N149fs							2	1520_1521	+								D3DPV4|Q5SWM7|Q5SWM8|Q5SWM9|Q5SWN0|Q5SWN1|Q8WTW9	Frame_Shift_Del	DEL	ENST00000372703.1	37	c.446_447delAC	CCDS453.1																																																																																				0.46	EXO5-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019087.1	NM_022774		7	102						7	102	---	---	---	---	-	40980663	AC	-	40980662	7	5	217	1	0	1	0	1	0	0	0	0	4425	43	2	0	448	0	DEM1	1	40980662	Frame_Shift_Del	DEL	AC	TCGA-HC-7747-01A-11D-2114-08	28072623	40980662	208269959	3	9973											
RAD54L	8438	broad.mit.edu	37	chr1	46736426	46736426	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acaggcagctaggagaggagCggctgcgggagctcaccagc	10	3	17	11	2	1	1	1	0	0	1	1	4	1	3	1	5	5	4	1	5	1	1	rs150138364		TCGA-HC-7747-01A-11D-2114-08	TCGA-HC-7747-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85714546-69c0-468e-b38a-3e0e886d44c7	67cdd8c3-0dbd-4b0d-87c3-49c9e86c24f6	g.chr1:46736426C>T	ENST00000371975.4	+	10	1812	c.1138C>T	c.(1138-1140)Cgg>Tgg	p.R380W	RAD54L_ENST00000442598.1_Missense_Mutation_p.R380W|RAD54L_ENST00000473251.1_3'UTR	NM_003579.3	NP_003570.2	Q92698	RAD54_HUMAN	RAD54-like (S. cerevisiae)	380			R -> Q (in dbSNP:rs28363234). {ECO:0000269|Ref.2}.		chromosome organization (GO:0051276)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA strand renaturation (GO:0000733)|double-strand break repair via homologous recombination (GO:0000724)|meiotic nuclear division (GO:0007126)|response to drug (GO:0042493)|response to ionizing radiation (GO:0010212)	nucleus (GO:0005634)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			breast(2)|cervix(1)|kidney(3)|large_intestine(5)|liver(1)|lung(6)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	25	Acute lymphoblastic leukemia(166;0.155)	Breast(1374;0.0634)		KIRC - Kidney renal clear cell carcinoma(1967;0.000896)		AGGAGAGGAGCGGCTGCGGGA	0.498								Direct reversal of damage;Homologous recombination																														ENST00000371975.4																			0				breast(2)|cervix(1)|kidney(3)|large_intestine(5)|liver(1)|lung(6)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	25						c.(1138-1140)Cgg>Tgg	Direct reversal of damage;Homologous recombination	RAD54-like (S. cerevisiae)		C	TRP/ARG,TRP/ARG	0,4406		0,0,2203	88	82	84		1138,1138	5.7	1	1	dbSNP_134	84	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	RAD54L	NM_001142548.1,NM_003579.3	101,101	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging	380/748,380/748	46736426	1,13005	2203	4300	6503	SO:0001583	missense	8438				meiosis	nucleus	ATP binding|DNA binding|helicase activity	g.chr1:46736426C>T	X97795	CCDS532.1	1p32	2008-02-05	2001-11-28		ENSG00000085999	ENSG00000085999			9826	protein-coding gene	gene with protein product		603615	"RAD54 (S.cerevisiae)-like"			8805304	Standard	NM_003579		Approved	hHR54, hRAD54, RAD54A	uc009vye.2	Q92698	OTTHUMG00000007772	ENST00000371975.4:c.1138C>T	1.37:g.46736426C>T	ENSP00000361043:p.Arg380Trp					RAD54L_ENST00000442598.1_Missense_Mutation_p.R380W	p.R380W	NM_003579.3	NP_003570.2	Q92698	RAD54_HUMAN		KIRC - Kidney renal clear cell carcinoma(1967;0.000896)	10	1812	+	Acute lymphoblastic leukemia(166;0.155)	Breast(1374;0.0634)	380		R -> Q (in dbSNP:rs28363234).			Q5TE31|Q6IUY3	Missense_Mutation	SNP	ENST00000371975.4	37	c.1138C>T	CCDS532.1	.	.	.	.	.	.	.	.	.	.	C	19.15	3.771516	0.69992	0.0	1.16E-4	ENSG00000085999	ENST00000442598;ENST00000371975;ENST00000535499	D;D	0.93763	-3.28;-3.28	5.71	5.71	0.89125	SNF2-related (1);	0.053328	0.64402	D	0.000001	D	0.97492	0.9179	H	0.95187	3.635	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.75020	0.985;0.958	D	0.98005	1.0362	10	0.72032	D	0.01	-9.7981	12.8804	0.58014	0.2703:0.7297:0.0:0.0	.	200;380	G3V1N0;Q92698	.;RAD54_HUMAN	W	380;380;200	ENSP00000396113:R380W;ENSP00000361043:R380W	ENSP00000361043:R380W	R	+	1	2	RAD54L	46509013	1.000000	0.71417	0.995000	0.50966	0.472000	0.32918	3.212000	0.51145	2.691000	0.91804	0.563000	0.77884	CGG		0.498	RAD54L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021272.1	NM_003579		4	62	0	0	0	1	0	4	62					T	46736426	C	T	46736426	3	4	217	1	0	0	0	0	1	0	0	0	12993	759	27	1	1176	1	RAD54L	1	46736426	Missense_Mutation	SNP	C	TCGA-HC-7747-01A-11D-2114-08	5755764	46736426	202514195	4	9974											
CACHD1	57685	broad.mit.edu	37	chr1	65142590	65142590	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctgcacagaaaccccagctgCgaggtccaccaggagccggt	10	4	12	15	2	0	1	0	0	0	1	1	3	1	2	5	3	5	2	5	3	1	0	rs150699745		TCGA-HC-7747-01A-11D-2114-08	TCGA-HC-7747-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85714546-69c0-468e-b38a-3e0e886d44c7	67cdd8c3-0dbd-4b0d-87c3-49c9e86c24f6	g.chr1:65142590C>T	ENST00000371073.2	+	22	2988	c.2988C>T	c.(2986-2988)tgC>tgT	p.C996C	CACHD1_ENST00000495994.1_3'UTR|CACHD1_ENST00000290039.5_Silent_p.C945C			Q5VU97	CAHD1_HUMAN	cache domain containing 1	996					calcium ion transport (GO:0006816)	integral component of membrane (GO:0016021)				breast(4)|endometrium(3)|kidney(3)|large_intestine(20)|lung(14)|ovary(2)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						ACCCCAGCTGCGAGGTCCACC	0.547																																						ENST00000371073.2																			0				breast(4)|endometrium(3)|kidney(3)|large_intestine(20)|lung(14)|ovary(2)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						c.(2986-2988)tgC>tgT		cache domain containing 1		C		0,4406		0,0,2203	124	121	122		2835	-6.5	0.9	1	dbSNP_134	122	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	CACHD1	NM_020925.2		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		945/1224	65142590	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	57685				calcium ion transport	integral to membrane		g.chr1:65142590C>T	AB046793	CCDS628.2	1p31.3	2008-02-05	2005-10-11	2005-10-11	ENSG00000158966	ENSG00000158966			29314	protein-coding gene	gene with protein product			"von Willebrand factor type A and cache domain containing 1"	VWCD1		10997877	Standard	NM_020925		Approved	KIAA1573	uc001dbo.1	Q5VU97	OTTHUMG00000009030	ENST00000371073.2:c.2988C>T	1.37:g.65142590C>T						CACHD1_ENST00000290039.5_Silent_p.C945C|CACHD1_ENST00000495994.1_3'UTR	p.C996C			Q5VU97	CAHD1_HUMAN			22	2988	+			996					Q49AE9|Q658T4|Q7Z3P2|Q9H7W4|Q9H9W3|Q9HCJ9	Silent	SNP	ENST00000371073.2	37	c.2988C>T																																																																																					0.547	CACHD1-201	KNOWN	basic	protein_coding	protein_coding		NM_020925		27	198	0	0	0	1	0	27	198					T	65142590	C	T	65142590	2	4	217	1	0	0	0	0	0	0	0	1	2537	776	27	1		1	CACHD1	1	65142590	Silent	SNP	C	TCGA-HC-7747-01A-11D-2114-08	18406164	65142590	184108031	5	9975											
RPTN	126638	broad.mit.edu	37	chr1	152128277	152128280	+	Frame_Shift_Del	DEL	TGTC	TGTC	-																															catagtgggaactctggcctTgtctgtctgtctgaccgtag																										TCGA-HC-7747-01A-11D-2114-08	TCGA-HC-7747-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85714546-69c0-468e-b38a-3e0e886d44c7	8e4f9702-4f15-422a-8e25-b973bd31e6da	g.chr1:152128277_152128280delTGTC	ENST00000316073.3	-	3	1359_1362	c.1295_1298delGACA	c.(1294-1299)agacaafs	p.RQ432fs		NM_001122965.1	NP_001116437.1	Q6XPR3	RPTN_HUMAN	repetin	432	Gln-rich.					cornified envelope (GO:0001533)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)	p.R432K(1)		breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						ACTCTGGCCTTGTCTGTCTGTCTG	0.525																																						ENST00000316073.3																			1	Substitution - Missense(1)	p.R432K(1)	lung(1)	breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						c.(1294-1299)aafs		repetin																																				SO:0001589	frameshift_variant	126638					proteinaceous extracellular matrix	calcium ion binding	g.chr1:152128277_152128280delTGTC	AK096436	CCDS41397.1	1q21.3	2013-01-10			ENSG00000215853	ENSG00000215853		"EF-hand domain containing"	26809	protein-coding gene	gene with protein product		613259				15854042	Standard	NM_001122965		Approved	FLJ39117	uc001ezs.1	Q6XPR3	OTTHUMG00000154095	ENST00000316073.3:c.1295_1298delGACA	1.37:g.152128285_152128288delTGTC	ENSP00000317895:p.Arg432fs						p.RQ432fs	NM_001122965.1	NP_001116437.1	Q6XPR3	RPTN_HUMAN			3	1359_1362	-			432			Gln-rich.		B7ZBZ3	Frame_Shift_Del	DEL	ENST00000316073.3	37	c.1295_1298delGACA	CCDS41397.1																																																																																				0.525	RPTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333867.1	XM_371312		8	1215						8	1215	---	---	---	---	-	152128280	TGTC	-	152128277	7	5	217	1	0	1	0	1	0	0	0	0	13664	1812	63	0	1060	0	RPTN	1	152128277	Frame_Shift_Del	DEL	TGTC	TCGA-HC-7747-01A-11D-2114-08	86985687	152128277	97122344	6	9976											
SPTA1	6708	broad.mit.edu	37	chr1	158627418	158627418	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcgcctagcagctcgagcaCggagagactccatattctgg	9	8	12	12	3	1	1	0	0	1	1	4	4	2	2	2	2	3	3	2	2	2	3	rs370989483		TCGA-HC-7747-01A-11D-2114-08	TCGA-HC-7747-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85714546-69c0-468e-b38a-3e0e886d44c7	67cdd8c3-0dbd-4b0d-87c3-49c9e86c24f6	g.chr1:158627418C>T	ENST00000368147.4	-	19	2834	c.2654G>A	c.(2653-2655)cGt>cAt	p.R885H		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	885					actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					AGCTCGAGCACGGAGAGACTC	0.468																																						ENST00000368148.3																			0				NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307						c.(2653-2655)cGt>cAt		spectrin, alpha, erythrocytic 1 (elliptocytosis 2)		C	HIS/ARG	4,3996		0,4,1996	166	162	163		2654	-0.4	0	1		163	1,8367		0,1,4183	no	missense	SPTA1	NM_003126.2	29	0,5,6179	TT,TC,CC		0.012,0.1,0.0404	benign	885/2420	158627418	5,12363	2000	4184	6184	SO:0001583	missense	6708				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	g.chr1:158627418C>T	M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"EF-hand domain containing"	11272	protein-coding gene	gene with protein product	"elliptocytosis 2"	182860	"spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.2654G>A	1.37:g.158627418C>T	ENSP00000357129:p.Arg885His					SPTA1_ENST00000368147.3_Missense_Mutation_p.R885H	p.R885H	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN			19	2834	-	all_hematologic(112;0.0378)		885					Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Missense_Mutation	SNP	ENST00000368147.4	37	c.2654G>A	CCDS41423.1	.	.	.	.	.	.	.	.	.	.	C	9.645	1.140129	0.21205	0.001	1.2E-4	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.52526	0.66;0.66	4.67	-0.359	0.12571	.	1.560760	0.04732	N	0.421205	T	0.17408	0.0418	L	0.39898	1.24	0.09310	N	1	B	0.14438	0.01	B	0.16289	0.015	T	0.23762	-1.0179	10	0.24483	T	0.36	.	9.0397	0.36309	0.0:0.2422:0.0:0.7578	.	885	P02549	SPTA1_HUMAN	H	885	ENSP00000357130:R885H;ENSP00000357129:R885H	ENSP00000357129:R885H	R	-	2	0	SPTA1	156894042	1.000000	0.71417	0.007000	0.13788	0.143000	0.21401	1.879000	0.39618	-0.123000	0.11745	0.655000	0.94253	CGT		0.468	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126		15	187	0	0	0	1	0	15	187					T	158627418	C	T	158627418	3	4	217	1	0	0	0	0	1	0	0	0	15115	536	19	1	4741	1	SPTA1	1	158627418	Missense_Mutation	SNP	C	TCGA-HC-7747-01A-11D-2114-08	6499141	158627418	90623203	7	9977											
CD48	962	broad.mit.edu	37	chr1	160654785	160654785	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gaccttagagatgtacagtgCgccactctgaggatcaagtc	11	9	11	10	1	2	2	1	1	1	1	3	5	2	3	2	1	2	1	2	1	3	2			TCGA-HC-7747-01A-11D-2114-08	TCGA-HC-7747-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85714546-69c0-468e-b38a-3e0e886d44c7	67cdd8c3-0dbd-4b0d-87c3-49c9e86c24f6	g.chr1:160654785C>T	ENST00000368046.3	-	2	364	c.277G>A	c.(277-279)Gca>Aca	p.A93T	RP11-404F10.2_ENST00000588034.1_RNA|RP11-404F10.2_ENST00000443928.2_RNA|RP11-404F10.2_ENST00000598917.2_RNA|CD48_ENST00000368045.3_Missense_Mutation_p.A93T	NM_001778.3	NP_001769.2	P09326	CD48_HUMAN	CD48 molecule	93	Ig-like C2-type 1.				blood coagulation (GO:0007596)|defense response (GO:0006952)|leukocyte migration (GO:0050900)|mast cell activation (GO:0045576)|signal transduction (GO:0007165)|T cell activation (GO:0042110)	anchored component of plasma membrane (GO:0046658)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	antigen binding (GO:0003823)|receptor activity (GO:0004872)			breast(2)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|stomach(1)	10	all_cancers(52;2.18e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)			ATGTACAGTGCGCCACTCTGA	0.423																																						ENST00000368045.3																			0				breast(2)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|stomach(1)	10						c.(277-279)Gca>Aca		CD48 molecule							167	164	165					1																	160654785		2203	4300	6503	SO:0001583	missense	962				blood coagulation|defense response|leukocyte migration	integral to plasma membrane|membrane raft	protein binding	g.chr1:160654785C>T	BC016182	CCDS1208.1, CCDS72955.1	1q21.3-q22	2013-01-29	2006-03-31		ENSG00000117091	ENSG00000117091		"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	1683	protein-coding gene	gene with protein product		109530	"CD48 antigen (B-cell membrane protein)", "CD48 molecule "	BCM1		2828034	Standard	NM_001256030		Approved	BLAST, mCD48, hCD48, SLAMF2	uc001fwo.2	P09326	OTTHUMG00000024009	ENST00000368046.3:c.277G>A	1.37:g.160654785C>T	ENSP00000357025:p.Ala93Thr					CD48_ENST00000368046.3_Missense_Mutation_p.A93T	p.A93T			P09326	CD48_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.0175)		2	316	-	all_cancers(52;2.18e-17)|all_hematologic(112;0.093)		93			Ig-like C2-type 1.		Q5U055|Q8MGR0	Missense_Mutation	SNP	ENST00000368046.3	37	c.277G>A	CCDS1208.1	.	.	.	.	.	.	.	.	.	.	C	10.83	1.460558	0.26248	.	.	ENSG00000117091	ENST00000368046;ENST00000368045	T;T	0.62498	0.02;0.02	3.59	-0.856	0.10697	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like fold (1);	1.110220	0.06745	N	0.778936	T	0.43010	0.1228	L	0.49350	1.555	0.09310	N	1	B;D;P	0.54047	0.402;0.964;0.912	B;P;P	0.48815	0.136;0.591;0.572	T	0.35847	-0.9772	10	0.54805	T	0.06	-3.3301	6.5366	0.22357	0.0:0.443:0.0:0.557	.	93;93;93	Q8MGR0;Q6IAZ2;P09326	.;.;CD48_HUMAN	T	93	ENSP00000357025:A93T;ENSP00000357024:A93T	ENSP00000357024:A93T	A	-	1	0	CD48	158921409	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.603000	0.05674	-0.150000	0.11195	0.462000	0.41574	GCA		0.423	CD48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060471.1	NM_001778		4	166	0	0	0	1	0	4	166					T	160654785	C	T	160654785	3	4	217	1	0	0	0	0	1	0	0	0	3020	768	27	1	466	1	CD48	1	160654785	Missense_Mutation	SNP	C	TCGA-HC-7747-01A-11D-2114-08	2027367	160654785	88595836	8	9978											
ADIPOR1	51094	broad.mit.edu	37	chr1	202914151	202914151	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttctctgaatgacaatagaCggtgtgaaagagccaggaga	14	9	12	6	1	1	6	0	3	1	3	2	7	1	6	1	2	1	0	1	2	4	2			TCGA-HC-7747-01A-11D-2114-08	TCGA-HC-7747-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85714546-69c0-468e-b38a-3e0e886d44c7	67cdd8c3-0dbd-4b0d-87c3-49c9e86c24f6	g.chr1:202914151C>T	ENST00000340990.5	-	5	875	c.577G>A	c.(577-579)Gtc>Atc	p.V193I	ADIPOR1_ENST00000367254.3_Intron|ADIPOR1_ENST00000436244.1_Missense_Mutation_p.V193I	NM_015999.4	NP_057083.2	Q96A54	ADR1_HUMAN	adiponectin receptor 1	193					adiponectin-activated signaling pathway (GO:0033211)|fatty acid oxidation (GO:0019395)|hormone-mediated signaling pathway (GO:0009755)|leptin-mediated signaling pathway (GO:0033210)|negative regulation of cell growth (GO:0030308)|positive regulation of insulin receptor signaling pathway (GO:0046628)|positive regulation of JAK-STAT cascade (GO:0046427)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	hormone binding (GO:0042562)|protein kinase binding (GO:0019901)|receptor activity (GO:0004872)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|prostate(2)|skin(1)	16			BRCA - Breast invasive adenocarcinoma(75;0.141)			TGACAATAGACGGTGTGAAAG	0.443																																						ENST00000340990.5																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|prostate(2)|skin(1)	16						c.(577-579)Gtc>Atc		adiponectin receptor 1							123	130	128					1																	202914151		2203	4300	6503	SO:0001583	missense	51094				fatty acid oxidation|hormone-mediated signaling pathway	integral to membrane|plasma membrane	hormone binding|protein kinase binding|receptor activity	g.chr1:202914151C>T		CCDS1430.1	1q32.1	2012-08-22			ENSG00000159346	ENSG00000159346		"GPCR / Unclassified : Adiponectin receptors"	24040	protein-coding gene	gene with protein product		607945				12802337	Standard	XM_006711360		Approved	PAQR1, ACDCR1	uc001gyq.5	Q96A54	OTTHUMG00000041391	ENST00000340990.5:c.577G>A	1.37:g.202914151C>T	ENSP00000341785:p.Val193Ile					ADIPOR1_ENST00000436244.1_Missense_Mutation_p.V193I|ADIPOR1_ENST00000367254.3_Intron	p.V193I	NM_015999.4	NP_057083.2	Q96A54	ADR1_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.141)		5	875	-			193					B3KMB0|Q53HS7|Q53YY6|Q9Y360	Missense_Mutation	SNP	ENST00000340990.5	37	c.577G>A	CCDS1430.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.192222	0.78902	.	.	ENSG00000159346	ENST00000340990;ENST00000436244;ENST00000417068;ENST00000426229	T;T;T;T	0.32272	1.46;1.46;1.46;1.46	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.26268	0.0641	N	0.25094	0.71	0.80722	D	1	B	0.24368	0.102	B	0.29524	0.103	T	0.04976	-1.0914	10	0.20519	T	0.43	.	19.4432	0.94831	0.0:1.0:0.0:0.0	.	193	Q96A54	ADR1_HUMAN	I	193	ENSP00000341785:V193I;ENSP00000395469:V193I;ENSP00000402178:V193I;ENSP00000392946:V193I	ENSP00000341785:V193I	V	-	1	0	ADIPOR1	201180774	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.805000	0.86005	2.941000	0.99782	0.655000	0.94253	GTC		0.443	ADIPOR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000099160.2	NM_015999		4	155	0	0	0	1	0	4	155					T	202914151	C	T	202914151	3	4	217	1	0	0	0	0	1	0	0	0	318	536	19	1	566	1	ADIPOR1	1	202914151	Missense_Mutation	SNP	C	TCGA-HC-7747-01A-11D-2114-08	42259366	202914151	46336470	9	9979											
PIK3C2B	5287	broad.mit.edu	37	chr1	204409362	204409362	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcagcggaagatgaccatgcGcatgtccagcccctcctgga	9	6	12	14	2	0	2	0	1	0	1	2	4	2	4	5	2	3	2	5	2	1	0			TCGA-HC-7747-01A-11D-2114-08	TCGA-HC-7747-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85714546-69c0-468e-b38a-3e0e886d44c7	67cdd8c3-0dbd-4b0d-87c3-49c9e86c24f6	g.chr1:204409362G>A	ENST00000367187.3	-	23	3893	c.3337C>T	c.(3337-3339)Cgc>Tgc	p.R1113C	PIK3C2B_ENST00000424712.2_Missense_Mutation_p.R1085C	NM_002646.3	NP_002637.3	O00750	P3C2B_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta	1113	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.				phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|protein kinase B signaling (GO:0043491)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|lipid kinase activity (GO:0001727)|phosphatidylinositol binding (GO:0035091)			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(4)|large_intestine(11)|lung(24)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	52	all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227)		GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193)			ATGACCATGCGCATGTCCAGC	0.597																																						ENST00000367187.3																			0				breast(3)|central_nervous_system(1)|cervix(2)|endometrium(4)|large_intestine(11)|lung(24)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	52						c.(3337-3339)Cgc>Tgc		phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta							136	118	124					1																	204409362		2203	4300	6503	SO:0001583	missense	5287				cell communication|phosphatidylinositol-mediated signaling	endoplasmic reticulum|microsome|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity|protein binding	g.chr1:204409362G>A	Y11312	CCDS1446.1	1q32	2012-07-13	2012-07-13		ENSG00000133056	ENSG00000133056	2.7.1.154		8972	protein-coding gene	gene with protein product		602838	"phosphoinositide-3-kinase, class 2, beta polypeptide"			9144573, 9830063	Standard	NM_002646		Approved	C2-PI3K, PI3K-C2beta	uc001haw.3	O00750	OTTHUMG00000036101	ENST00000367187.3:c.3337C>T	1.37:g.204409362G>A	ENSP00000356155:p.Arg1113Cys					PIK3C2B_ENST00000424712.2_Missense_Mutation_p.R1085C	p.R1113C	NM_002646.3	NP_002637.3	O00750	P3C2B_HUMAN	GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193)		23	3893	-	all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227)		1113			PI3K/PI4K.		O95666|Q5SW99	Missense_Mutation	SNP	ENST00000367187.3	37	c.3337C>T	CCDS1446.1	.	.	.	.	.	.	.	.	.	.	G	25.7	4.665335	0.88251	.	.	ENSG00000133056	ENST00000367187;ENST00000424712	T;T	0.78126	-1.15;-1.15	6.06	6.06	0.98353	Protein kinase-like domain (1);Phosphatidylinositol 3-/4-kinase, catalytic (3);	0.048250	0.85682	D	0.000000	D	0.84800	0.5552	L	0.48362	1.52	0.58432	D	0.999999	D;D	0.89917	0.994;1.0	P;D	0.63033	0.859;0.91	D	0.84949	0.0870	10	0.87932	D	0	.	20.2194	0.98323	0.0:0.0:1.0:0.0	.	1085;1113	F5GWN5;O00750	.;P3C2B_HUMAN	C	1113;1085	ENSP00000356155:R1113C;ENSP00000400561:R1085C	ENSP00000356155:R1113C	R	-	1	0	PIK3C2B	202675985	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.115000	0.57865	2.879000	0.98667	0.650000	0.86243	CGC		0.597	PIK3C2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087965.1	NM_002646		4	160	0	0	0	1	0	4	160					A	204409362	G	A	204409362	3	1	217	1	0	0	0	0	1	0	0	0	11910	1087	38	1	1615	1	PIK3C2B	1	204409362	Missense_Mutation	SNP	G	TCGA-HC-7747-01A-11D-2114-08	1495211	204409362	44841259	10	9980											
C2orf84	653140	broad.mit.edu	37	chr2	24406452	24406452	+	Nonsense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcactttcacttcacactgTgtgattccaaaagagtggca	11	13	7	10	0	3	2	3	1	0	1	4	2	4	2	1	1	0	1	1	1	2	4			TCGA-HC-7747-01A-11D-2114-08	TCGA-HC-7747-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85714546-69c0-468e-b38a-3e0e886d44c7	67cdd8c3-0dbd-4b0d-87c3-49c9e86c24f6	g.chr2:24406452T>A	ENST00000295150.3	+	5	425	c.339T>A	c.(337-339)tgT>tgA	p.C113*	RP11-507M3.1_ENST00000584973.1_3'UTR	NM_001040710.1	NP_001035800.1	Q86W67	F228A_HUMAN	family with sequence similarity 228, member A	113																	CTTCACACTGTGTGATTCCAA	0.408																																						ENST00000295150.3																			0											c.(337-339)tgT>tgA		family with sequence similarity 228, member A							59	55	56					2																	24406452		1869	4111	5980	SO:0001587	stop_gained	653140							g.chr2:24406452T>A		CCDS42659.1	2p23.3	2012-07-04	2012-07-04	2012-07-04	ENSG00000186453	ENSG00000186453			34418	protein-coding gene	gene with protein product			"chromosome 2 open reading frame 84"	C2orf84			Standard	NM_001040710		Approved	FLJ30851	uc002rfc.3	Q86W67	OTTHUMG00000151903	ENST00000295150.3:c.339T>A	2.37:g.24406452T>A	ENSP00000295150:p.Cys113*					RP11-507M3.1_ENST00000584973.1_3'UTR	p.C113*	NM_001040710.1	NP_001035800.1					5	425	+									Nonsense_Mutation	SNP	ENST00000295150.3	37	c.339T>A	CCDS42659.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	14.35|14.35	2.510584|2.510584	0.44660|0.44660	.|.	.|.	ENSG00000186453|ENSG00000186453	ENST00000295150;ENST00000415196|ENST00000432434	.|.	.|.	.|.	3.81|3.81	-7.62|-7.62	0.01294|0.01294	.|.	1.843360|.	0.02704|.	N|.	0.112108|.	.|T	.|0.18341	.|0.0440	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.13710	.|-1.0499	.|3	0.35671|.	T|.	0.21|.	1.1237|1.1237	4.1857|4.1857	0.10397|0.10397	0.1026:0.1199:0.2043:0.5732|0.1026:0.1199:0.2043:0.5732	.|.	.|.	.|.	.|.	X|E	113;14|151	.|.	ENSP00000295150:C113X|.	C|V	+|+	3|2	2|0	C2orf84|C2orf84	24259956|24259956	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.001000|0.001000	0.01503|0.01503	-0.851000|-0.851000	0.04313|0.04313	-2.747000|-2.747000	0.00376|0.00376	-0.479000|-0.479000	0.04858|0.04858	TGT|GTG		0.408	FAM228A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324342.1	NM_001040710		3	43	0	0	0	1	0	3	43					A	24406452	T	A	24406452	4	1	217	1	0	0	0	0	0	1	0	0	2199	1702	59	5	353	5	C2orf84	2	24406452	Nonsense_Mutation	SNP	T	TCGA-HC-7747-01A-11D-2114-08		24406452	218792921	11	9981											
LRPPRC	10128	broad.mit.edu	37	chr2	44121719	44121719	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gggaattgtatgcttcttccTtttcatttaattcaggaatc	9	18	7	7	0	3	0	2	0	1	0	5	2	4	2	1	2	1	2	1	2	4	9			TCGA-HC-7747-01A-11D-2114-08	TCGA-HC-7747-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85714546-69c0-468e-b38a-3e0e886d44c7	67cdd8c3-0dbd-4b0d-87c3-49c9e86c24f6	g.chr2:44121719T>C	ENST00000260665.7	-	36	4007	c.3950A>G	c.(3949-3951)aAg>aGg	p.K1317R	RNU6-1048P_ENST00000364054.1_RNA	NM_133259.3	NP_573566.2	P42704	LPPRC_HUMAN	leucine-rich pentatricopeptide repeat containing	1317	RNA-binding.				mitochondrion transport along microtubule (GO:0047497)|mRNA transport (GO:0051028)|negative regulation of mitochondrial RNA catabolic process (GO:0000961)|regulation of mitochondrial translation (GO:0070129)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	condensed nuclear chromosome (GO:0000794)|cytoskeleton (GO:0005856)|membrane (GO:0016020)|microtubule (GO:0005874)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|ribonucleoprotein complex (GO:0030529)	beta-tubulin binding (GO:0048487)|microtubule binding (GO:0008017)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)			breast(3)|endometrium(3)|kidney(5)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|skin(2)	41		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				TGCTTCTTCCTTTTCATTTAA	0.269																																						ENST00000260665.7																			0				breast(3)|endometrium(3)|kidney(5)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|skin(2)	41						c.(3949-3951)aAg>aGg		leucine-rich pentatricopeptide repeat containing							69	74	72					2																	44121719		2202	4282	6484	SO:0001583	missense	10128				mitochondrion transport along microtubule|mRNA transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	condensed nuclear chromosome|cytoskeleton|mitochondrial nucleoid|nuclear inner membrane|nuclear outer membrane|nucleoplasm|perinuclear region of cytoplasm	beta-tubulin binding|microtubule binding|RNA binding	g.chr2:44121719T>C	M92439	CCDS33189.1	2p21	2012-02-24	2012-02-24		ENSG00000138095	ENSG00000138095			15714	protein-coding gene	gene with protein product		607544	"Leigh syndrome, French-Canadian type (cytochrome oxidase deficiency)"	LSFC		8012652, 8619474, 22045337	Standard	NM_133259		Approved	GP130, LRP130	uc002rtr.2	P42704	OTTHUMG00000152782	ENST00000260665.7:c.3950A>G	2.37:g.44121719T>C	ENSP00000260665:p.Lys1317Arg						p.K1317R	NM_133259.3	NP_573566.2	P42704	LPPRC_HUMAN			36	4007	-		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	1317			RNA-binding.		A0PJE3|A8K1V1|Q53PC0|Q53QN7|Q6ZUD8|Q7Z7A6|Q96D84	Missense_Mutation	SNP	ENST00000260665.7	37	c.3950A>G	CCDS33189.1	.	.	.	.	.	.	.	.	.	.	T	8.258	0.810430	0.16537	.	.	ENSG00000138095	ENST00000260665;ENST00000419884	T	0.12984	2.63	5.84	2.17	0.27698	.	0.466130	0.23213	N	0.050649	T	0.07098	0.0180	L	0.31664	0.95	0.09310	N	1	B	0.10296	0.003	B	0.08055	0.003	T	0.34601	-0.9822	10	0.17369	T	0.5	-7.4497	1.6592	0.02787	0.1242:0.2115:0.3539:0.3104	.	1317	P42704	LPPRC_HUMAN	R	1317;64	ENSP00000260665:K1317R	ENSP00000260665:K1317R	K	-	2	0	LRPPRC	43975223	0.000000	0.05858	0.031000	0.17742	0.004000	0.04260	0.062000	0.14389	0.448000	0.26722	0.528000	0.53228	AAG		0.269	LRPPRC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327823.1	NM_133259		3	81	0	0	0	1	0	3	81					C	44121719	T	C	44121719	3	2	217	1	0	0	0	0	1	0	0	0	8965	1609	56	4	246	4	LRPPRC	2	44121719	Missense_Mutation	SNP	T	TCGA-HC-7747-01A-11D-2114-08	19715267	44121719	199077654	12	9982											
DQX1	165545	broad.mit.edu	37	chr2	74750268	74750268	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtgggaaccctcttgctcgCaatcgtcttgcctctgcctg	4	12	11	14	2	3	0	0	0	3	0	5	1	3	1	3	2	4	2	3	2	2	2			TCGA-HC-7747-01A-11D-2114-08	TCGA-HC-7747-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85714546-69c0-468e-b38a-3e0e886d44c7	67cdd8c3-0dbd-4b0d-87c3-49c9e86c24f6	g.chr2:74750268C>T	ENST00000404568.3	-	6	1341	c.1122G>A	c.(1120-1122)ttG>ttA	p.L374L	DQX1_ENST00000393951.2_Silent_p.L374L|DQX1_ENST00000495597.1_5'Flank	NM_133637.2	NP_598376.2	Q8TE96	DQX1_HUMAN	DEAQ box RNA-dependent ATPase 1	374	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.					nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(1)	18						CTCTTGCTCGCAATCGTCTTG	0.507																																						ENST00000404568.3																			0				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(1)	18						c.(1120-1122)ttG>ttA		DEAQ box RNA-dependent ATPase 1							182	179	180					2																	74750268		2203	4300	6503	SO:0001819	synonymous_variant	165545					nucleus	ATP binding|helicase activity|nucleic acid binding	g.chr2:74750268C>T	AK074337	CCDS1949.2	2p12	2010-04-20	2009-01-15		ENSG00000144045	ENSG00000144045			20410	protein-coding gene	gene with protein product			"DEAQ box polypeptide 1 (RNA-dependent ATPase)"				Standard	NM_133637		Approved	FLJ23757	uc010yrw.2	Q8TE96	OTTHUMG00000129965	ENST00000404568.3:c.1122G>A	2.37:g.74750268C>T						DQX1_ENST00000393951.2_Silent_p.L374L	p.L374L	NM_133637.2	NP_598376.2	Q8TE96	DQX1_HUMAN			6	1341	-			374			Helicase C-terminal.		Q6B017|Q8NAM8	Silent	SNP	ENST00000404568.3	37	c.1122G>A	CCDS1949.2																																																																																				0.507	DQX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252230.3	NM_133637		7	193	0	0	0	1	0	7	193					T	74750268	C	T	74750268	2	4	217	1	0	0	0	0	0	0	0	1	4751	709	25	3		3	DQX1	2	74750268	Silent	SNP	C	TCGA-HC-7747-01A-11D-2114-08	30628549	74750268	168449105	13	9983											
RANBP2	5903	broad.mit.edu	37	chr2	109365452	109365452	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gaaacttttgccaacaaaagCgggcagtctgcattatatga	14	10	9	8	1	1	1	0	1	1	0	1	2	1	1	1	1	5	2	1	1	6	4			TCGA-HC-7747-01A-11D-2114-08	TCGA-HC-7747-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85714546-69c0-468e-b38a-3e0e886d44c7	67cdd8c3-0dbd-4b0d-87c3-49c9e86c24f6	g.chr2:109365452C>T	ENST00000283195.6	+	9	1266	c.1140C>T	c.(1138-1140)agC>agT	p.S380S		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	380					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|negative regulation of glucokinase activity (GO:0033132)|protein folding (GO:0006457)|protein import into nucleus (GO:0006606)|protein sumoylation (GO:0016925)|regulation of gluconeogenesis involved in cellular glucose homeostasis (GO:0090526)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)	ligase activity (GO:0016874)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|Ran GTPase binding (GO:0008536)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)		RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						CCAACAAAAGCGGGCAGTCTG	0.353																																						ENST00000283195.6																		RANBP2/ALK(34)	0				NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						c.(1138-1140)agC>agT		RAN binding protein 2							183	199	194					2																	109365452		2203	4300	6503	SO:0001819	synonymous_variant	5903				carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding	g.chr2:109365452C>T	D42063	CCDS2079.1	2q13	2013-11-14			ENSG00000153201	ENSG00000153201		"Tetratricopeptide (TTC) repeat domain containing"	9848	protein-coding gene	gene with protein product		601181	"acute necrotizing encephalopathy 1 (autosomal dominant)"	ANE1		7724562, 19118815	Standard	NM_006267		Approved	NUP358, ADANE	uc002tem.4	P49792	OTTHUMG00000130981	ENST00000283195.6:c.1140C>T	2.37:g.109365452C>T							p.S380S	NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN			9	1266	+			380					Q13074|Q15280|Q53TE2|Q59FH7	Silent	SNP	ENST00000283195.6	37	c.1140C>T	CCDS2079.1																																																																																				0.353	RANBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253594.1	NM_006267		6	232	0	0	0	1	0	6	232					T	109365452	C	T	109365452	2	4	217	1	0	0	0	0	0	0	0	1	13028	767	27	1		1	RANBP2	2	109365452	Silent	SNP	C	TCGA-HC-7747-01A-11D-2114-08	34615184	109365452	133833921	14	9984											
LRP2	4036	broad.mit.edu	37	chr2	170136033	170136033	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	attaacccagtccacagccaGgttctctggggtttcaacag	10	10	9	12	0	2	0	1	0	1	0	4	0	3	0	3	3	3	2	3	3	2	3			TCGA-HC-7747-01A-11D-2114-08	TCGA-HC-7747-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85714546-69c0-468e-b38a-3e0e886d44c7	67cdd8c3-0dbd-4b0d-87c3-49c9e86c24f6	g.chr2:170136033G>A	ENST00000263816.3	-	12	1699	c.1414C>T	c.(1414-1416)Ctg>Ttg	p.L472L	LRP2_ENST00000443831.1_Silent_p.L472L	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	472					cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"	TCCACAGCCAGGTTCTCTGGG	0.353																																						ENST00000263816.3																			0				biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315						c.(1414-1416)Ctg>Ttg		low density lipoprotein receptor-related protein 2	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)						81	88	85					2																	170136033		2203	4300	6503	SO:0001819	synonymous_variant	4036				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding	g.chr2:170136033G>A		CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"Low density lipoprotein receptors"	6694	protein-coding gene	gene with protein product	"megalin"	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.1414C>T	2.37:g.170136033G>A						LRP2_ENST00000443831.1_Silent_p.L472L	p.L472L	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN		STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	12	1699	-			472					O00711|Q16215	Silent	SNP	ENST00000263816.3	37	c.1414C>T	CCDS2232.1																																																																																				0.353	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2	NM_004525		19	77	0	0	0	1	0	19	77					A	170136033	G	A	170136033	2	1	217	1	0	0	0	0	0	0	0	1	8956	991	35	3		3	LRP2	2	170136033	Silent	SNP	G	TCGA-HC-7747-01A-11D-2114-08	60770581	170136033	73063340	15	9985											
DNPEP	23549	broad.mit.edu	37	chr2	220251660	220251660	+	De_novo_Start_OutOfFrame	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctcagtctccttgagttcaCtgaagccagcctggagaagg	9	10	11	11	0	3	3	2	2	2	1	5	4	3	3	3	2	2	1	3	2	2	2			TCGA-HC-7747-01A-11D-2114-08	TCGA-HC-7747-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85714546-69c0-468e-b38a-3e0e886d44c7	67cdd8c3-0dbd-4b0d-87c3-49c9e86c24f6	g.chr2:220251660C>T	ENST00000373972.1	-	0	194				DNPEP_ENST00000273075.4_Missense_Mutation_p.S58N|DNPEP_ENST00000523282.1_Missense_Mutation_p.S66N|AC053503.4_ENST00000420563.1_RNA			Q9ULA0	DNPEP_HUMAN	aspartyl aminopeptidase						peptide metabolic process (GO:0006518)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(3)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Renal(207;0.0474)		Epithelial(149;1.09e-06)|all cancers(144;0.000179)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CTTGAGTTCACTGAAGCCAGC	0.587																																						ENST00000373972.1																			0				breast(3)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17								aspartyl aminopeptidase	L-Glutamic Acid(DB00142)						90	91	90					2																	220251660		1941	4134	6075			23549				peptide metabolic process|proteolysis	cytoplasm	aminopeptidase activity|metallopeptidase activity|protein binding|zinc ion binding	g.chr2:220251660C>T		CCDS42823.1	2q36.1	2008-05-22			ENSG00000123992	ENSG00000123992			2981	protein-coding gene	gene with protein product		611367				9632644	Standard	NM_012100		Approved	DAP, ASPEP	uc002vle.2	Q9ULA0	OTTHUMG00000058919	ENST00000373972.1:c.-53G>A	2.37:g.220251660C>T						DNPEP_ENST00000523282.1_Missense_Mutation_p.S66N|DNPEP_ENST00000273075.4_Missense_Mutation_p.S58N				Q9ULA0	DNPEP_HUMAN		Epithelial(149;1.09e-06)|all cancers(144;0.000179)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	0	194	-		Renal(207;0.0474)						Q9BW44|Q9NUV5	Translation_Start_Site	SNP	ENST00000373972.1	37			.	.	.	.	.	.	.	.	.	.	C	10.82	1.458692	0.26248	.	.	ENSG00000123992	ENST00000273075;ENST00000337010;ENST00000523282;ENST00000457935;ENST00000429013;ENST00000521459;ENST00000322176;ENST00000519905	.	.	.	5.07	1.49	0.22878	.	0.987279	0.08278	N	0.970320	T	0.31327	0.0793	L	0.42581	1.335	0.21822	N	0.999529	B;B;B;B;B	0.06786	0.0;0.001;0.0;0.001;0.0	B;B;B;B;B	0.09377	0.001;0.002;0.001;0.004;0.001	T	0.27502	-1.0072	9	0.29301	T	0.29	-9.0408	3.9196	0.09237	0.1477:0.239:0.0:0.6133	.	66;58;66;48;58	E7ETB3;B7Z822;B7Z7F0;Q9ULA0;Q53SB6	.;.;.;DNPEP_HUMAN;.	N	58;58;66;66;44;58;58;44	.	ENSP00000273075:S58N	S	-	2	0	DNPEP	219959904	0.318000	0.24598	0.993000	0.49108	0.593000	0.36681	-0.213000	0.09305	0.020000	0.15106	-0.367000	0.07326	AGT		0.587	DNPEP-005	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000130216.2	NM_012100		16	79	0	0	0	1	0	16	79					T	220251660	C	T	220251660	1	4	217	1	0	1	0	0	0	0	0	0	4679	565	20	3		3	DNPEP	2	220251660	De_novo_Start_OutOfFrame	SNP	C	TCGA-HC-7747-01A-11D-2114-08	50115627	220251660	22947713	16	9986											
DLEC1	9940	broad.mit.edu	37	chr3	38139333	38139333	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagatccggaacgtcagccaGctcccagccacatggcgcat	10	5	10	16	3	1	1	1	0	0	1	3	2	3	2	4	2	4	2	4	2	1	0			TCGA-HC-7747-01A-11D-2114-08	TCGA-HC-7747-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85714546-69c0-468e-b38a-3e0e886d44c7	67cdd8c3-0dbd-4b0d-87c3-49c9e86c24f6	g.chr3:38139333G>A	ENST00000308059.6	+	18	2685	c.2664G>A	c.(2662-2664)caG>caA	p.Q888Q	DLEC1_ENST00000452631.2_Silent_p.Q888Q|DLEC1_ENST00000346219.3_Silent_p.Q888Q					deleted in lung and esophageal cancer 1											NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(3)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	51				KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)		ACGTCAGCCAGCTCCCAGCCA	0.597																																						ENST00000308059.6																			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(3)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	51						c.(2662-2664)caG>caA		deleted in lung and esophageal cancer 1							58	65	63					3																	38139333		2143	4260	6403	SO:0001819	synonymous_variant	9940				negative regulation of cell proliferation	cytoplasm		g.chr3:38139333G>A	AB020522	CCDS2672.2	3p21.3	2014-07-31			ENSG00000008226	ENSG00000008226			2899	protein-coding gene	gene with protein product	"cilia and flagella associated protein 81"	604050				10213508	Standard	XM_005265630		Approved	DLC1, CFAP81	uc003chp.1	Q9Y238	OTTHUMG00000131085	ENST00000308059.6:c.2664G>A	3.37:g.38139333G>A						DLEC1_ENST00000452631.2_Silent_p.Q888Q|DLEC1_ENST00000346219.3_Silent_p.Q888Q	p.Q888Q			Q9Y238	DLEC1_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)	18	2685	+			888						Silent	SNP	ENST00000308059.6	37	c.2664G>A	CCDS2672.2																																																																																				0.597	DLEC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253745.3	NM_007337		3	76	0	0	0	1	0	3	76					A	38139333	G	A	38139333	2	1	217	1	0	0	0	0	0	0	0	1	4552	962	34	3		3	DLEC1	3	38139333	Silent	SNP	G	TCGA-HC-7747-01A-11D-2114-08		38139333	159883097	17	9987											
SCN10A	6336	broad.mit.edu	37	chr3	38743403	38743403	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aagtagtactgcctcaaagcGaacatcttcatgacacattc	14	10	6	11	1	3	1	2	1	1	0	4	2	3	1	1	0	4	2	1	0	5	4	rs141828577		TCGA-HC-7747-01A-11D-2114-08	TCGA-HC-7747-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85714546-69c0-468e-b38a-3e0e886d44c7	67cdd8c3-0dbd-4b0d-87c3-49c9e86c24f6	g.chr3:38743403G>A	ENST00000449082.2	-	26	4583	c.4584C>T	c.(4582-4584)ttC>ttT	p.F1528F		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	1528					AV node cell to bundle of His cell communication (GO:0086067)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of cardiac muscle contraction (GO:0055117)|regulation of heart rate (GO:0002027)|regulation of ion transmembrane transport (GO:0034765)|sensory perception (GO:0007600)|sensory perception of pain (GO:0019233)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	C-fiber (GO:0044299)|extracellular vesicular exosome (GO:0070062)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cinchocaine(DB00527)|Cocaine(DB00907)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Lacosamide(DB06218)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Orphenadrine(DB01173)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)|Valproic Acid(DB00313)	GCCTCAAAGCGAACATCTTCA	0.468																																						ENST00000449082.2																			0				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150						c.(4582-4584)ttC>ttT		sodium channel, voltage-gated, type X, alpha subunit	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	G		1,4405	2.1+/-5.4	0,1,2202	141	117	125		4584	-3.7	0.9	3	dbSNP_134	125	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	SCN10A	NM_006514.2		0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154		1528/1957	38743403	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	6336				sensory perception	voltage-gated sodium channel complex		g.chr3:38743403G>A	AF117907	CCDS33736.1	3p22.2	2012-02-26	2007-01-23		ENSG00000185313	ENSG00000185313		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10582	protein-coding gene	gene with protein product		604427	"sodium channel, voltage-gated, type X, alpha polypeptide"			9839820, 10198179, 16382098	Standard	NM_006514		Approved	Nav1.8, hPN3, SNS, PN3	uc003ciq.3	Q9Y5Y9	OTTHUMG00000048245	ENST00000449082.2:c.4584C>T	3.37:g.38743403G>A							p.F1528F	NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	26	4583	-			1528					A6NDQ1	Silent	SNP	ENST00000449082.2	37	c.4584C>T	CCDS33736.1																																																																																				0.468	SCN10A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109745.3	NM_006514		14	75	0	0	0	1	0	14	75					A	38743403	G	A	38743403	2	1	217	1	0	0	0	0	0	0	0	1	13912	1049	37	2		2	SCN10A	3	38743403	Silent	SNP	G	TCGA-HC-7747-01A-11D-2114-08	604070	38743403	159279027	18	9988											
UROC1	131669	broad.mit.edu	37	chr3	126216983	126216983	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cccccgatgtgcacacccagCggaaaggcccaaatccctgg	10	4	10	17	2	0	0	0	0	0	0	1	2	1	1	5	3	2	1	5	3	2	0	rs200384323		TCGA-HC-7747-01A-11D-2114-08	TCGA-HC-7747-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85714546-69c0-468e-b38a-3e0e886d44c7	67cdd8c3-0dbd-4b0d-87c3-49c9e86c24f6	g.chr3:126216983C>T	ENST00000290868.2	-	14	1402	c.1349G>A	c.(1348-1350)cGc>cAc	p.R450H	UROC1_ENST00000383579.3_Missense_Mutation_p.R510H	NM_144639.2	NP_653240.1	Q96N76	HUTU_HUMAN	urocanate hydratase 1	450			R -> C (in UROD; loss of activity). {ECO:0000269|PubMed:19304569}.		cellular nitrogen compound metabolic process (GO:0034641)|histidine catabolic process (GO:0006548)|histidine catabolic process to glutamate and formamide (GO:0019556)|histidine catabolic process to glutamate and formate (GO:0019557)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	urocanate hydratase activity (GO:0016153)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(1)|skin(1)	39				GBM - Glioblastoma multiforme(114;0.17)		GCACACCCAGCGGAAAGGCCC	0.627													C|||	1	0.000199681	0	0	5008	,	,		17660	0		0.001	False		,,,				2504	0					ENST00000290868.2																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(1)|skin(1)	39						c.(1348-1350)cGc>cAc		urocanate hydratase 1		C	HIS/ARG,HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	144	155	151		1529,1349	3.5	1	3		151	2,8598	2.2+/-6.3	0,2,4298	yes	missense,missense	UROC1	NM_001165974.1,NM_144639.2	29,29	0,3,6500	TT,TC,CC		0.0233,0.0227,0.0231	probably-damaging,probably-damaging	510/737,450/677	126216983	3,13003	2203	4300	6503	SO:0001583	missense	131669				histidine catabolic process	cytosol	urocanate hydratase activity	g.chr3:126216983C>T	AK055862	CCDS3038.1, CCDS54636.1	3q21.2	2012-08-21	2012-08-21		ENSG00000159650	ENSG00000159650	4.2.1.49		26444	protein-coding gene	gene with protein product	"urocanase 1"	613012	"urocanase domain containing 1"			19304569	Standard	NM_144639		Approved	FLJ31300, HMFN0320	uc010hsi.2	Q96N76	OTTHUMG00000162753	ENST00000290868.2:c.1349G>A	3.37:g.126216983C>T	ENSP00000290868:p.Arg450His					UROC1_ENST00000383579.3_Missense_Mutation_p.R510H	p.R450H	NM_144639.2	NP_653240.1	Q96N76	HUTU_HUMAN		GBM - Glioblastoma multiforme(114;0.17)	14	1402	-			450		R -> C (in UROD; loss of activity).			E9PE13|Q14C64|Q68CJ7	Missense_Mutation	SNP	ENST00000290868.2	37	c.1349G>A	CCDS3038.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	C	21.2	4.109398	0.77096	2.27E-4	2.33E-4	ENSG00000159650	ENST00000290868;ENST00000383579	T;T	0.65916	-0.18;-0.18	4.4	3.52	0.40303	Urocanase domain (2);	0.000000	0.85682	D	0.000000	D	0.85004	0.5598	H	0.97918	4.105	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.87253	0.2274	10	0.87932	D	0	-9.3123	10.1803	0.42963	0.0:0.9002:0.0:0.0998	.	510;450	E9PE13;Q96N76	.;HUTU_HUMAN	H	450;510	ENSP00000290868:R450H;ENSP00000373073:R510H	ENSP00000290868:R450H	R	-	2	0	UROC1	127699673	1.000000	0.71417	1.000000	0.80357	0.854000	0.48673	5.588000	0.67517	0.851000	0.35264	0.491000	0.48974	CGC		0.627	UROC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370325.2	NM_144639		9	250	0	0	0	1	0	9	250					T	126216983	C	T	126216983	3	4	217	1	0	0	0	0	1	0	0	0	17025	768	27	1	709	1	UROC1	3	126216983	Missense_Mutation	SNP	C	TCGA-HC-7747-01A-11D-2114-08	87473580	126216983	71805447	19	9989											
TOPBP1	11073	broad.mit.edu	37	chr3	133358890	133358890	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caacagccaagctatagtaaCggcaggtaaattccacttct	14	9	7	11	1	1	0	0	0	1	0	2	0	2	0	2	2	4	4	2	2	7	6	rs376746791	byFrequency	TCGA-HC-7747-01A-11D-2114-08	TCGA-HC-7747-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85714546-69c0-468e-b38a-3e0e886d44c7	67cdd8c3-0dbd-4b0d-87c3-49c9e86c24f6	g.chr3:133358890C>T	ENST00000260810.5	-	13	2277	c.2146G>A	c.(2146-2148)Gtt>Att	p.V716I		NM_007027.3	NP_008958.2	Q92547	TOPB1_HUMAN	topoisomerase (DNA) II binding protein 1	716	BRCT 5. {ECO:0000255|PROSITE- ProRule:PRU00033}.				cellular response to DNA damage stimulus (GO:0006974)|DNA metabolic process (GO:0006259)|DNA repair (GO:0006281)|response to ionizing radiation (GO:0010212)	chromosome (GO:0005694)|condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|male germ cell nucleus (GO:0001673)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|protein C-terminus binding (GO:0008022)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(14)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	40						GCTATAGTAACGGCAGGTAAA	0.393								Other conserved DNA damage response genes					C|||	2	0.000399361	0	0	5008	,	,		18619	0		0	False		,,,				2504	0.002				Ovarian(21;193 658 4424 15423 17362)	ENST00000260810.5																			0				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(14)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	40						c.(2146-2148)Gtt>Att	Other conserved DNA damage response genes	topoisomerase (DNA) II binding protein 1		C	ILE/VAL	0,3716		0,0,1858	76	74	75		2146	4.7	0.3	3		75	1,8205		0,1,4102	no	missense	TOPBP1	NM_007027.3	29	0,1,5960	TT,TC,CC		0.0122,0.0,0.0084	probably-damaging	716/1523	133358890	1,11921	1858	4103	5961	SO:0001583	missense	11073				DNA repair|response to ionizing radiation	microtubule organizing center|PML body|spindle pole	DNA binding|protein C-terminus binding	g.chr3:133358890C>T	AB019397	CCDS46919.1	3q22.1	2004-06-21			ENSG00000163781	ENSG00000163781			17008	protein-coding gene	gene with protein product		607760				9461304, 9039502	Standard	NM_007027		Approved	KIAA0259, TOP2BP1	uc003eps.3	Q92547	OTTHUMG00000159773	ENST00000260810.5:c.2146G>A	3.37:g.133358890C>T	ENSP00000260810:p.Val716Ile						p.V716I	NM_007027.3	NP_008958.2	Q92547	TOPB1_HUMAN			13	2277	-			716			BRCT 5.		B7Z7W8|Q7LGC1|Q9UEB9	Missense_Mutation	SNP	ENST00000260810.5	37	c.2146G>A	CCDS46919.1	.	.	.	.	.	.	.	.	.	.	C	16.59	3.164385	0.57476	0.0	1.22E-4	ENSG00000163781	ENST00000260810	D	0.92805	-3.11	5.59	4.71	0.59529	BRCT (4);	0.180469	0.47852	D	0.000215	D	0.90669	0.7073	L	0.60067	1.865	0.80722	D	1	P	0.44195	0.828	B	0.43018	0.405	D	0.90903	0.4770	10	0.51188	T	0.08	.	13.8843	0.63699	0.0:0.9272:0.0:0.0728	.	716	Q92547	TOPB1_HUMAN	I	716	ENSP00000260810:V716I	ENSP00000260810:V716I	V	-	1	0	TOPBP1	134841580	1.000000	0.71417	0.321000	0.25320	0.502000	0.33828	4.966000	0.63715	2.630000	0.89119	0.650000	0.86243	GTT		0.393	TOPBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357254.1	NM_007027		10	68	0	0	0	1	0	10	68					T	133358890	C	T	133358890	3	4	217	1	0	0	0	0	1	0	0	0	16366	536	19	1	2486	1	TOPBP1	3	133358890	Missense_Mutation	SNP	C	TCGA-HC-7747-01A-11D-2114-08	7141907	133358890	64663540	20	9990											
MFI2	4241	broad.mit.edu	37	chr3	196735710	196735710	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcggtagccgtaataccgcTcctggctgttgcccacacac	7	8	10	16	4	0	0	0	0	0	0	1	0	1	0	4	2	3	5	4	2	3	4			TCGA-HC-7747-01A-11D-2114-08	TCGA-HC-7747-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85714546-69c0-468e-b38a-3e0e886d44c7	67cdd8c3-0dbd-4b0d-87c3-49c9e86c24f6	g.chr3:196735710T>G	ENST00000296350.5	-	12	1765	c.1652A>C	c.(1651-1653)gAg>gCg	p.E551A		NM_005929.5	NP_005920.2	P08582	TRFM_HUMAN	antigen p97 (melanoma associated) identified by monoclonal antibodies 133.2 and 96.5	551	Transferrin-like 2. {ECO:0000255|PROSITE- ProRule:PRU00741}.				cellular iron ion homeostasis (GO:0006879)|iron ion import (GO:0097286)|negative regulation of substrate adhesion-dependent cell spreading (GO:1900025)|positive regulation of extracellular matrix disassembly (GO:0090091)|positive regulation of plasminogen activation (GO:0010756)	anchored component of plasma membrane (GO:0046658)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	ferric iron binding (GO:0008199)|iron ion binding (GO:0005506)			breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|prostate(1)	20	all_cancers(143;3.95e-09)|Ovarian(172;0.0634)|Breast(254;0.0838)		Epithelial(36;4.55e-24)|all cancers(36;2.87e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00536)		GTAATACCGCTCCTGGCTGTT	0.672																																						ENST00000296350.5																			0				breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|prostate(1)	20						c.(1651-1653)gAg>gCg		antigen p97 (melanoma associated) identified by monoclonal antibodies 133.2 and 96.5							90	80	83					3																	196735710		2203	4300	6503	SO:0001583	missense	4241				cellular iron ion homeostasis|iron ion transport	anchored to membrane|extracellular region|integral to plasma membrane	ferric iron binding|protein binding	g.chr3:196735710T>G		CCDS3325.1, CCDS3326.1	3q28-q29	2012-10-02			ENSG00000163975	ENSG00000163975		"CD molecules"	7037	protein-coding gene	gene with protein product	"melanotransferrin", "membrane-bound transferrin-like protein"	155750					Standard	NM_033316		Approved	CD228, FLJ38863, MAP97, MGC4856, MTF1	uc003fxk.4	P08582	OTTHUMG00000155518	ENST00000296350.5:c.1652A>C	3.37:g.196735710T>G	ENSP00000296350:p.Glu551Ala						p.E551A	NM_005929.5	NP_005920.2	P08582	TRFM_HUMAN	Epithelial(36;4.55e-24)|all cancers(36;2.87e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00536)	12	1765	-	all_cancers(143;3.95e-09)|Ovarian(172;0.0634)|Breast(254;0.0838)		551			Transferrin-like 2.		Q9BQE2	Missense_Mutation	SNP	ENST00000296350.5	37	c.1652A>C	CCDS3325.1	.	.	.	.	.	.	.	.	.	.	T	20.9	4.069149	0.76301	.	.	ENSG00000163975	ENST00000296350	T	0.38240	1.15	4.96	4.96	0.65561	.	0.051772	0.85682	D	0.000000	T	0.65059	0.2655	M	0.89030	3	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	T	0.72924	-0.4144	10	0.87932	D	0	-42.6798	13.4985	0.61440	0.0:0.0:0.0:1.0	.	551	P08582	TRFM_HUMAN	A	551	ENSP00000296350:E551A	ENSP00000296350:E551A	E	-	2	0	MFI2	198220107	1.000000	0.71417	1.000000	0.80357	0.494000	0.33585	7.797000	0.85911	1.852000	0.53769	0.455000	0.32223	GAG		0.672	MFI2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340458.1			6	77	0	0	0	1	0	6	77					G	196735710	T	G	196735710	3	3	217	1	0	0	0	0	1	0	0	0	9522	1551	54	5	584	5	MFI2	3	196735710	Missense_Mutation	SNP	T	TCGA-HC-7747-01A-11D-2114-08	63376820	196735710	1286720	21	9991											
TAPT1	202018	broad.mit.edu	37	chr4	16189980	16189981	+	Splice_Site	INS	-	-	A																															aaacagacgatcagctacctINSaaaaaaaaaaattatttgta																										TCGA-HC-7747-01A-11D-2114-08	TCGA-HC-7747-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85714546-69c0-468e-b38a-3e0e886d44c7	67cdd8c3-0dbd-4b0d-87c3-49c9e86c24f6	g.chr4:16189980_16189981insA	ENST00000405303.2	-	5	696		c.e5-2		TAPT1_ENST00000399920.3_Splice_Site|TAPT1_ENST00000304584.8_Splice_Site|TAPT1_ENST00000508888.1_Splice_Site	NM_153365.2	NP_699196.2	Q6NXT6	TAPT1_HUMAN	transmembrane anterior posterior transformation 1						embryonic skeletal system development (GO:0048706)|G-protein coupled receptor signaling pathway (GO:0007186)|in utero embryonic development (GO:0001701)|post-embryonic development (GO:0009791)	integral component of membrane (GO:0016021)	growth hormone-releasing hormone receptor activity (GO:0016520)			NS(1)|breast(2)|cervix(1)|kidney(2)|large_intestine(2)|lung(1)|prostate(1)	10						ATCAGCTACCTAAAAAAAAAAA	0.317																																						ENST00000405303.2																			0				NS(1)|breast(2)|cervix(1)|kidney(2)|large_intestine(2)|lung(1)|prostate(1)	10						c.e5-2		transmembrane anterior posterior transformation 1																																				SO:0001630	splice_region_variant	202018					integral to membrane	growth hormone-releasing hormone receptor activity	g.chr4:16189980_16189981insA	AK074494	CCDS47030.1	4p15.32	2014-01-28			ENSG00000169762	ENSG00000169762			26887	protein-coding gene	gene with protein product		612758				12477932	Standard	NM_153365		Approved	FLJ90013	uc010ied.1	Q6NXT6	OTTHUMG00000160177	ENST00000405303.2:c.613-2->T	4.37:g.16189991_16189991dupA						TAPT1_ENST00000399920.3_Splice_Site|TAPT1_ENST00000508888.1_Splice_Site|TAPT1_ENST00000304584.8_Splice_Site		NM_153365.2	NP_699196.2	Q6NXT6	TAPT1_HUMAN			5	696	-								Q8N2S3|Q9NZK9	Splice_Site	INS	ENST00000405303.2	37		CCDS47030.1																																																																																				0.317	TAPT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359568.1	NM_153365	Intron	4	7						4	7	---	---	---	---	A	16189981	-	A	16189980	8	5	217	1	0	1	1	0	0	0	1	0	15551	1536	53	0	1132	0	TAPT1	4	16189980	Splice_Site	INS	-	TCGA-HC-7747-01A-11D-2114-08		16189980	174964296	22	9992											
ANKRD17	26057	broad.mit.edu	37	chr4	74010532	74010532	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcattaaaggagttcttccAccttcagattcatgttcctg	9	16	6	10	0	4	1	3	0	1	1	6	2	6	2	3	1	0	2	3	1	2	7			TCGA-HC-7747-01A-11D-2114-08	TCGA-HC-7747-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85714546-69c0-468e-b38a-3e0e886d44c7	8e4f9702-4f15-422a-8e25-b973bd31e6da	g.chr4:74010532A>C	ENST00000358602.4	-	11	2003	c.1887T>G	c.(1885-1887)ggT>ggG	p.G629G	ANKRD17_ENST00000509867.2_Silent_p.G516G|ANKRD17_ENST00000330838.6_Silent_p.G629G|ANKRD17_ENST00000514252.1_5'UTR	NM_032217.3	NP_115593.3	O75179	ANR17_HUMAN	ankyrin repeat domain 17	629					blood vessel maturation (GO:0001955)|negative regulation of smooth muscle cell differentiation (GO:0051151)|viral process (GO:0016032)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)	96	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			GAGTTCTTCCACCTTCAGATT	0.303																																						ENST00000358602.4																			0				NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)	96						c.(1885-1887)ggT>ggG		ankyrin repeat domain 17							76	74	75					4																	74010532		2203	4300	6503	SO:0001819	synonymous_variant	26057				interspecies interaction between organisms	cytoplasm|nucleus	RNA binding	g.chr4:74010532A>C	AB014597	CCDS34003.1, CCDS34004.1, CCDS68721.1	4q21.1-q21.21	2013-01-10			ENSG00000132466	ENSG00000132466		"Ankyrin repeat domain containing"	23575	protein-coding gene	gene with protein product		615929				11165478	Standard	NM_032217		Approved	GTAR, KIAA0697, FLJ22206, NY-BR-16	uc003hgp.3	O75179	OTTHUMG00000160826	ENST00000358602.4:c.1887T>G	4.37:g.74010532A>C						ANKRD17_ENST00000514252.1_5'UTR|ANKRD17_ENST00000509867.2_Silent_p.G516G|ANKRD17_ENST00000330838.6_Silent_p.G629G	p.G629G	NM_032217.3	NP_115593.3	O75179	ANR17_HUMAN	Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		11	2003	-	Breast(15;0.000295)		629					E7EUV3|G5E964|Q6PJ85|Q6PK85|Q6PKA2|Q86XI3|Q8NDR5|Q96I86|Q9H288|Q9H6J9	Silent	SNP	ENST00000358602.4	37	c.1887T>G	CCDS34004.1																																																																																				0.303	ANKRD17-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000362475.1	NM_032217		5	34	0	0	0	1	0	5	34					C	74010532	A	C	74010532	2	2	217	1	0	0	0	0	0	0	0	1	646	146	6	5		5	ANKRD17	4	74010532	Silent	SNP	A	TCGA-HC-7747-01A-11D-2114-08	57820552	74010532	117143744	23	9993											
CDKL2	8999	broad.mit.edu	37	chr4	76507096	76507096	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ccctgaatcatctgacagggGaggtcctgatacctataaat	12	10	9	10	0	2	3	1	3	1	0	3	4	3	4	3	3	1	0	3	3	5	3			TCGA-HC-7747-01A-11D-2114-08	TCGA-HC-7747-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85714546-69c0-468e-b38a-3e0e886d44c7	67cdd8c3-0dbd-4b0d-87c3-49c9e86c24f6	g.chr4:76507096G>A	ENST00000429927.2	-	11	2132	c.1429C>T	c.(1429-1431)Ccc>Tcc	p.P477S	CDKL2_ENST00000307465.4_Missense_Mutation_p.P554S	NM_003948.3	NP_003939.1	Q92772	CDKL2_HUMAN	cyclin-dependent kinase-like 2 (CDC2-related kinase)	477					sex differentiation (GO:0007548)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672)			breast(3)|endometrium(1)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(2)|stomach(2)	22			Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122)			TCTGACAGGGGAGGTCCTGAT	0.383																																						ENST00000429927.2																			0				breast(3)|endometrium(1)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(2)|stomach(2)	22						c.(1429-1431)Ccc>Tcc		cyclin-dependent kinase-like 2 (CDC2-related kinase)							72	71	72					4																	76507096		2203	4299	6502	SO:0001583	missense	8999				sex differentiation|signal transduction	cytoplasm|nucleus	ATP binding|cyclin-dependent protein kinase activity	g.chr4:76507096G>A	U35146	CCDS3570.1	4q21.21	2011-11-04			ENSG00000138769	ENSG00000138769		"Cyclin-dependent kinases"	1782	protein-coding gene	gene with protein product		603442				9000130	Standard	NM_003948		Approved	P56, KKIAMRE	uc003hiq.3	Q92772	OTTHUMG00000130103	ENST00000429927.2:c.1429C>T	4.37:g.76507096G>A	ENSP00000412365:p.Pro477Ser					CDKL2_ENST00000307465.4_Missense_Mutation_p.P554S	p.P477S	NM_003948.3	NP_003939.1	Q92772	CDKL2_HUMAN	Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122)		11	2132	-			477					B2R695	Missense_Mutation	SNP	ENST00000429927.2	37	c.1429C>T	CCDS3570.1	.	.	.	.	.	.	.	.	.	.	G	3.248	-0.153900	0.06585	.	.	ENSG00000138769	ENST00000429927;ENST00000307465	T;T	0.72942	-0.7;-0.44	4.79	1.11	0.20524	.	.	.	.	.	T	0.43122	0.1233	N	0.08118	0	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.08055	0.003;0.002	T	0.24941	-1.0146	9	0.09084	T	0.74	-13.8566	6.732	0.23388	0.3886:0.0:0.6114:0.0	.	554;477	B4DH08;Q92772	.;CDKL2_HUMAN	S	477;554	ENSP00000412365:P477S;ENSP00000306340:P554S	ENSP00000306340:P554S	P	-	1	0	CDKL2	76726120	0.100000	0.21855	0.161000	0.22692	0.059000	0.15707	0.335000	0.19806	0.326000	0.23384	0.561000	0.74099	CCC		0.383	CDKL2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000252409.2	NM_003948		7	40	0	0	0	1	0	7	40					A	76507096	G	A	76507096	3	1	217	1	0	0	0	0	1	0	0	0	3154	1174	41	3	56	3	CDKL2	4	76507096	Missense_Mutation	SNP	G	TCGA-HC-7747-01A-11D-2114-08	2496564	76507096	114647180	24	9994											
SLC45A2	51151	broad.mit.edu	37	chr5	33947262	33947262	+	Intron	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaggcagaggttcaatgacaGcacacctccttttcttcctc	10	11	7	13	0	2	2	1	1	1	1	5	2	4	2	3	2	1	3	3	2	2	4			TCGA-HC-7747-01A-11D-2114-08	TCGA-HC-7747-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85714546-69c0-468e-b38a-3e0e886d44c7	67cdd8c3-0dbd-4b0d-87c3-49c9e86c24f6	g.chr5:33947262G>A	ENST00000296589.4	-	6	1515				SLC45A2_ENST00000342059.3_Intron|SLC45A2_ENST00000382102.3_Silent_p.C458C	NM_016180.3	NP_057264	Q9UMX9	S45A2_HUMAN	solute carrier family 45, member 2						developmental pigmentation (GO:0048066)|melanin biosynthetic process (GO:0042438)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(25)|ovary(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48						TTCAATGACAGCACACCTCCT	0.498																																					Ovarian(31;380 859 8490 22203 49048)	ENST00000382102.3																			0				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(25)|ovary(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48						c.(1372-1374)tgC>tgT		solute carrier family 45, member 2							212	202	205					5																	33947262		2203	4300	6503	SO:0001627	intron_variant	51151				melanin biosynthetic process|response to stimulus|transmembrane transport|visual perception	integral to membrane|melanosome membrane		g.chr5:33947262G>A	AF172849	CCDS3901.1, CCDS43308.1, CCDS75232.1	5p13.3	2013-08-06	2005-10-06	2005-10-06	ENSG00000164175	ENSG00000164175		"Solute carriers"	16472	protein-coding gene	gene with protein product		606202	"membrane associated transporter"	MATP		11916009, 11574907	Standard	NM_001012509		Approved	AIM-1, OCA4	uc003jid.3	Q9UMX9	OTTHUMG00000090719	ENST00000296589.4:c.1368+5C>T	5.37:g.33947262G>A						SLC45A2_ENST00000296589.4_Intron|SLC45A2_ENST00000342059.3_Intron	p.C458C	NM_001012509.2	NP_001012527.1	Q9UMX9	S45A2_HUMAN			6	1431	-			0					Q6P2P0|Q9BTM3	Silent	SNP	ENST00000296589.4	37	c.1374C>T	CCDS3901.1																																																																																				0.498	SLC45A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207443.2	NM_016180		4	262	0	0	0	1	0	4	262					A	33947262	G	A	33947262	1	1	217	0	1	0	0	0	0	0	0	0	14641	963	34	3		3	SLC45A2	5	33947262	Intron	SNP	G	TCGA-HC-7747-01A-11D-2114-08		33947262	146967998	25	9995											
CCL28	56477	broad.mit.edu	37	chr5	43382044	43382044	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttgccatggtgtttcttcCtgtggcaaacatttccttta	6	18	7	10	0	2	0	0	0	2	0	4	0	4	0	3	2	2	2	3	2	2	6			TCGA-HC-7747-01A-11D-2114-08	TCGA-HC-7747-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85714546-69c0-468e-b38a-3e0e886d44c7	67cdd8c3-0dbd-4b0d-87c3-49c9e86c24f6	g.chr5:43382044C>A	ENST00000361115.4	-	3	376	c.302G>T	c.(301-303)aGg>aTg	p.R101M	CCL28_ENST00000513525.1_Missense_Mutation_p.R54M	NM_148672.2	NP_683513.1	Q9NRJ3	CCL28_HUMAN	chemokine (C-C motif) ligand 28	101					cell chemotaxis (GO:0060326)|chemotaxis (GO:0006935)|immune response (GO:0006955)|negative regulation of leukocyte tethering or rolling (GO:1903237)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|response to nutrient (GO:0007584)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	chemokine activity (GO:0008009)			kidney(3)|lung(3)|ovary(1)	7						GTGTTTCTTCCTGTGGCAAAC	0.443																																					Esophageal Squamous(178;1549 1997 2043 22794 27051)	ENST00000361115.4																			0				kidney(3)|lung(3)|ovary(1)	7						c.(301-303)aGg>aTg		chemokine (C-C motif) ligand 28							306	255	272					5																	43382044		2203	4300	6503	SO:0001583	missense	56477				chemotaxis|immune response	extracellular space	chemokine activity	g.chr5:43382044C>A	AF110384	CCDS3944.1	5p12	2013-02-25			ENSG00000151882	ENSG00000151882		"Chemokine ligands", "Endogenous ligands"	17700	protein-coding gene	gene with protein product	"CC chemokine CCL28", "mucosae-associated epithelial chemokine", "small inducible cytokine subfamily A (Cys-Cys), member 28", "small inducible cytokine A28"	605240				10781587, 11295038	Standard	XR_241707		Approved	SCYA28, MEC, CCK1	uc003jnu.3	Q9NRJ3	OTTHUMG00000094811	ENST00000361115.4:c.302G>T	5.37:g.43382044C>A	ENSP00000354416:p.Arg101Met					CCL28_ENST00000513525.1_Missense_Mutation_p.R54M	p.R101M	NM_148672.2	NP_683513.1	Q9NRJ3	CCL28_HUMAN			3	376	-			101					D7RIE7	Missense_Mutation	SNP	ENST00000361115.4	37	c.302G>T	CCDS3944.1	.	.	.	.	.	.	.	.	.	.	C	10.75	1.438112	0.25900	.	.	ENSG00000151882	ENST00000361115;ENST00000513525	T;T	0.03920	3.76;3.76	5.07	-0.0534	0.13818	Chemokine interleukin-8-like domain (1);	0.780947	0.11589	N	0.548949	T	0.02571	0.0078	N	0.14661	0.345	0.36218	D	0.851837	B	0.11235	0.004	B	0.08055	0.003	T	0.42413	-0.9453	10	0.72032	D	0.01	0.0532	0.3881	0.00406	0.1899:0.2086:0.1741:0.4273	.	101	Q9NRJ3	CCL28_HUMAN	M	101;54	ENSP00000354416:R101M;ENSP00000422369:R54M	ENSP00000354416:R101M	R	-	2	0	CCL28	43417801	0.032000	0.19561	0.131000	0.22000	0.404000	0.30871	-0.031000	0.12287	-0.145000	0.11294	-0.302000	0.09304	AGG		0.443	CCL28-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211631.2	NM_148672		5	175	1	0	0.184627	1	0.18913	5	175					A	43382044	C	A	43382044	3	1	217	1	0	0	0	0	1	0	0	0	2900	681	24	5	85	5	CCL28	5	43382044	Missense_Mutation	SNP	C	TCGA-HC-7747-01A-11D-2114-08	9434782	43382044	137533216	26	9996											
CKMT2	1160	broad.mit.edu	37	chr5	80548571	80548571	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atggccgagtgcctcaccccCgccatttatgccaagcttcg	7	9	9	16	3	1	0	1	0	0	0	2	1	1	0	6	1	3	1	6	1	2	3			TCGA-HC-7747-01A-11D-2114-08	TCGA-HC-7747-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85714546-69c0-468e-b38a-3e0e886d44c7	67cdd8c3-0dbd-4b0d-87c3-49c9e86c24f6	g.chr5:80548571C>T	ENST00000424301.2	+	4	448	c.210C>T	c.(208-210)ccC>ccT	p.P70P	CKMT2-AS1_ENST00000512287.1_RNA|CKMT2-AS1_ENST00000501927.2_RNA|CKMT2-AS1_ENST00000511495.1_RNA|CKMT2_ENST00000437669.1_Silent_p.P70P|CKMT2-AS1_ENST00000502041.2_RNA|CKMT2-AS1_ENST00000505295.1_RNA|CKMT2-AS1_ENST00000500148.2_RNA|CKMT2-AS1_ENST00000503483.2_RNA|CKMT2_ENST00000254035.4_Silent_p.P70P	NM_001825.2	NP_001816.2	P17540	KCRS_HUMAN	creatine kinase, mitochondrial 2 (sarcomeric)	70	Phosphagen kinase N-terminal. {ECO:0000255|PROSITE-ProRule:PRU00842}.				cellular nitrogen compound metabolic process (GO:0034641)|creatine metabolic process (GO:0006600)|muscle contraction (GO:0006936)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|creatine kinase activity (GO:0004111)			breast(2)|cervix(1)|endometrium(2)|large_intestine(7)|lung(4)|urinary_tract(1)	17		Lung NSC(167;0.00475)|all_lung(232;0.00502)|Ovarian(174;0.0336)		OV - Ovarian serous cystadenocarcinoma(54;2.29e-44)|Epithelial(54;1.05e-38)|all cancers(79;4.15e-34)	Creatine(DB00148)	GCCTCACCCCCGCCATTTATG	0.617																																						ENST00000424301.2																			0				breast(2)|cervix(1)|endometrium(2)|large_intestine(7)|lung(4)|urinary_tract(1)	17						c.(208-210)ccC>ccT		creatine kinase, mitochondrial 2 (sarcomeric)	Creatine(DB00148)						111	94	100					5																	80548571		2203	4300	6503	SO:0001819	synonymous_variant	1160				creatine metabolic process|muscle contraction	mitochondrial inner membrane	ATP binding|creatine kinase activity	g.chr5:80548571C>T		CCDS4053.1	5q14.1	2013-09-20			ENSG00000131730	ENSG00000131730	2.7.3.2		1996	protein-coding gene	gene with protein product		123295				2324105	Standard	NM_001825		Approved	SMTCK	uc003khd.4	P17540	OTTHUMG00000119013	ENST00000424301.2:c.210C>T	5.37:g.80548571C>T						CTC-281B15.1_ENST00000512287.1_RNA|CTC-281B15.1_ENST00000502041.2_RNA|CTC-281B15.1_ENST00000511495.1_RNA|CTC-281B15.1_ENST00000501927.2_RNA|CKMT2_ENST00000254035.4_Silent_p.P70P|CTC-281B15.1_ENST00000505295.1_RNA|CTC-281B15.1_ENST00000503483.2_RNA|CTC-281B15.1_ENST00000500148.2_RNA|CKMT2_ENST00000437669.1_Silent_p.P70P	p.P70P	NM_001825.2	NP_001816.2	P17540	KCRS_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;2.29e-44)|Epithelial(54;1.05e-38)|all cancers(79;4.15e-34)	4	448	+		Lung NSC(167;0.00475)|all_lung(232;0.00502)|Ovarian(174;0.0336)	70			Phosphagen kinase N-terminal.		Q6ICS8|Q8N1E1	Silent	SNP	ENST00000424301.2	37	c.210C>T	CCDS4053.1																																																																																				0.617	CKMT2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369600.1	NM_001825		13	82	0	0	0	1	0	13	82					T	80548571	C	T	80548571	2	4	217	1	0	0	0	0	0	0	0	1	3451	639	23	2		2	CKMT2	5	80548571	Silent	SNP	C	TCGA-HC-7747-01A-11D-2114-08	37166527	80548571	100366689	27	9997											
PCDHB14	56122	broad.mit.edu	37	chr5	140605164	140605164	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cctggtggtggcattggcctCggtgtcgtcgctcttcctct	1	14	13	13	3	2	0	0	0	2	0	6	0	3	0	3	5	0	2	3	5	0	2			TCGA-HC-7747-01A-11D-2114-08	TCGA-HC-7747-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85714546-69c0-468e-b38a-3e0e886d44c7	67cdd8c3-0dbd-4b0d-87c3-49c9e86c24f6	g.chr5:140605164C>T	ENST00000239449.4	+	1	2087	c.2087C>T	c.(2086-2088)tCg>tTg	p.S696L	PCDHB14_ENST00000515856.2_Missense_Mutation_p.S543L	NM_018934.2	NP_061757.1	Q9Y5E9	PCDBE_HUMAN	protocadherin beta 14	696					calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(21)|ovary(2)|prostate(3)|skin(6)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCATTGGCCTCGGTGTCGTCG	0.711																																					Ovarian(141;50 1831 27899 33809 37648)	ENST00000239449.4																			0				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(21)|ovary(2)|prostate(3)|skin(6)|urinary_tract(1)	49						c.(2086-2088)tCg>tTg									85	95	92					5																	140605164		2199	4295	6494	SO:0001583	missense	0				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140605164C>T	AF152493	CCDS4256.1	5q31	2010-01-26			ENSG00000120327	ENSG00000120327		"Cadherins / Protocadherins : Clustered"	8685	other	protocadherin		606340				10380929	Standard	NM_018934		Approved	PCDH-BETA14	uc003ljb.3	Q9Y5E9	OTTHUMG00000129619	ENST00000239449.4:c.2087C>T	5.37:g.140605164C>T	ENSP00000239449:p.Ser696Leu					PCDHB14_ENST00000515856.2_Missense_Mutation_p.S543L	p.S696L	NM_018934.2	NP_061757.1	Q9Y5E9	PCDBE_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	2087	+			696					B4DPE2|Q4FZA4|Q4KN11	Missense_Mutation	SNP	ENST00000239449.4	37	c.2087C>T	CCDS4256.1	.	.	.	.	.	.	.	.	.	.	-	15.46	2.839050	0.51057	.	.	ENSG00000120327	ENST00000515856;ENST00000239449	T;T	0.07114	3.22;3.22	4.17	4.17	0.49024	.	.	.	.	.	T	0.12860	0.0312	M	0.77820	2.39	0.09310	N	1	B	0.28208	0.203	B	0.20184	0.028	T	0.08289	-1.0729	9	0.87932	D	0	.	10.2954	0.43620	0.0:0.9058:0.0:0.0942	.	696	Q9Y5E9	PCDBE_HUMAN	L	543;696	ENSP00000444518:S543L;ENSP00000239449:S696L	ENSP00000239449:S696L	S	+	2	0	PCDHB14	140585348	0.000000	0.05858	0.059000	0.19551	0.051000	0.14879	-0.789000	0.04609	2.022000	0.59522	0.650000	0.86243	TCG		0.711	PCDHB14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251814.2	NM_018934		4	203	0	0	0	1	0	4	203					T	140605164	C	T	140605164	3	4	217	1	0	0	0	0	1	0	0	0	11539	893	31	2	2089	2	PCDHB14	5	140605164	Missense_Mutation	SNP	C	TCGA-HC-7747-01A-11D-2114-08	60056593	140605164	40310096	28	9998											
PPP2R2B	5521	broad.mit.edu	37	chr5	146070770	146070770	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agccttctggcctcttatcaCgctcgctgactttccacagc	6	12	7	16	2	3	1	1	1	2	0	5	1	4	1	3	1	2	2	3	1	1	3	rs374783257		TCGA-HC-7747-01A-11D-2114-08	TCGA-HC-7747-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85714546-69c0-468e-b38a-3e0e886d44c7	67cdd8c3-0dbd-4b0d-87c3-49c9e86c24f6	g.chr5:146070770C>T	ENST00000394413.3	-	4	938	c.368G>A	c.(367-369)cGt>cAt	p.R123H	PPP2R2B_ENST00000336640.6_Missense_Mutation_p.R126H|PPP2R2B_ENST00000508545.2_Missense_Mutation_p.R112H|PPP2R2B_ENST00000453001.1_Missense_Mutation_p.R123H|PPP2R2B_ENST00000394410.2_Missense_Mutation_p.R112H|PPP2R2B_ENST00000394411.4_Missense_Mutation_p.R123H|PPP2R2B_ENST00000504198.1_Missense_Mutation_p.R129H|PPP2R2B_ENST00000530902.1_5'UTR|PPP2R2B_ENST00000394414.1_Missense_Mutation_p.R189H|PPP2R2B_ENST00000356826.3_Missense_Mutation_p.R123H|PPP2R2B_ENST00000394409.3_Missense_Mutation_p.R181H			Q00005	2ABB_HUMAN	protein phosphatase 2, regulatory subunit B, beta	123					apoptotic process (GO:0006915)|regulation of catalytic activity (GO:0050790)|signal transduction (GO:0007165)	cytoskeleton (GO:0005856)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|protein phosphatase type 2A complex (GO:0000159)	protein phosphatase type 2A regulator activity (GO:0008601)			endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(9)|ovary(1)|prostate(4)|skin(3)	32			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CCTCTTATCACGCTCGCTGAC	0.507																																						ENST00000394413.3																			0				endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(9)|ovary(1)|prostate(4)|skin(3)	32						c.(367-369)cGt>cAt		protein phosphatase 2, regulatory subunit B, beta		C	HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	97	103	101		368,368,368,368,377,308,335	5.8	1	5		101	0,8600		0,0,4300	no	missense,missense,missense,missense,missense,missense,missense	PPP2R2B	NM_001127381.1,NM_004576.2,NM_181674.2,NM_181675.2,NM_181676.2,NM_181677.2,NM_181678.2	29,29,29,29,29,29,29	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	123/444,123/444,123/444,123/444,126/447,103/424,112/433	146070770	1,13005	2203	4300	6503	SO:0001583	missense	5521				apoptosis|signal transduction	cytoskeleton|mitochondrial outer membrane|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity	g.chr5:146070770C>T	M64930	CCDS4283.1, CCDS4284.1, CCDS43380.1, CCDS4284.2, CCDS64282.1	5q32	2013-01-10	2010-04-14		ENSG00000156475	ENSG00000156475	3.1.3.16	"Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits", "WD repeat domain containing"	9305	protein-coding gene	gene with protein product	"PP2A subunit B isoform beta"	604325	"spinocerebellar ataxia 12", "protein phosphatase 2 (formerly 2A), regulatory subunit B (PR 52), beta isoform", "protein phosphatase 2 (formerly 2A), regulatory subunit B, beta isoform"	SCA12		1849734, 10581021	Standard	NM_181674		Approved	PR55-BETA, PR52B	uc003log.5	Q00005	OTTHUMG00000163381	ENST00000394413.3:c.368G>A	5.37:g.146070770C>T	ENSP00000377935:p.Arg123His					PPP2R2B_ENST00000508545.2_Missense_Mutation_p.R112H|PPP2R2B_ENST00000336640.6_Missense_Mutation_p.R126H|PPP2R2B_ENST00000504198.1_Missense_Mutation_p.R129H|PPP2R2B_ENST00000394410.2_Missense_Mutation_p.R112H|PPP2R2B_ENST00000394414.1_Missense_Mutation_p.R189H|PPP2R2B_ENST00000530902.1_5'UTR|PPP2R2B_ENST00000394409.3_Missense_Mutation_p.R181H|PPP2R2B_ENST00000356826.3_Missense_Mutation_p.R123H|PPP2R2B_ENST00000453001.1_Missense_Mutation_p.R123H|PPP2R2B_ENST00000394411.4_Missense_Mutation_p.R123H	p.R123H			Q00005	2ABB_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		4	938	-			123					A6NEJ2|A8K102|B3KPD0|B7Z2F2|B7Z304|D3DQF7|D3DQF8|G3V149	Missense_Mutation	SNP	ENST00000394413.3	37	c.368G>A	CCDS4284.1	.	.	.	.	.	.	.	.	.	.	C	35	5.567848	0.96540	2.27E-4	0.0	ENSG00000156475	ENST00000394413;ENST00000508545;ENST00000394414;ENST00000394411;ENST00000356826;ENST00000453001;ENST00000394410;ENST00000336640;ENST00000504198;ENST00000394409	T;T;T;T;T;T;T;T;T;T	0.29397	1.57;1.57;1.57;1.57;1.57;1.57;1.57;1.57;1.57;1.57	5.85	5.85	0.93711	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.59307	0.2184	M	0.79805	2.47	0.80722	D	1	D;D;D;P;P;D	0.76494	0.999;0.999;0.999;0.58;0.793;0.999	D;P;P;B;B;P	0.64144	0.922;0.896;0.896;0.174;0.072;0.896	T	0.62248	-0.6894	10	0.87932	D	0	-32.0461	20.1577	0.98120	0.0:1.0:0.0:0.0	.	181;129;112;189;126;123	Q00005-4;Q00005-3;G3V149;Q00005-5;Q00005-2;Q00005	.;.;.;.;.;2ABB_HUMAN	H	123;112;189;123;123;123;112;126;129;181	ENSP00000377935:R123H;ENSP00000431320:R112H;ENSP00000377936:R189H;ENSP00000377933:R123H;ENSP00000349283:R123H;ENSP00000398779:R123H;ENSP00000377932:R112H;ENSP00000336591:R126H;ENSP00000421396:R129H;ENSP00000377931:R181H	ENSP00000336591:R126H	R	-	2	0	AC011357.1	146050963	1.000000	0.71417	0.972000	0.41901	0.984000	0.73092	7.461000	0.80834	2.767000	0.95098	0.655000	0.94253	CGT		0.507	PPP2R2B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251893.2	NM_181678		7	67	0	0	0	1	0	7	67					T	146070770	C	T	146070770	3	4	217	1	0	0	0	0	1	0	0	0	12385	536	19	1	987	1	PPP2R2B	5	146070770	Missense_Mutation	SNP	C	TCGA-HC-7747-01A-11D-2114-08	5465606	146070770	34844490	29	9999											
SLC22A23	63027	broad.mit.edu	37	chr6	3287259	3287259	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcatagaagttctccaggagCggcaccttcacctcgtggcc	8	8	11	14	2	2	1	1	0	1	1	4	2	2	2	4	3	1	3	4	3	2	3	rs149321576		TCGA-HC-7747-01A-11D-2114-08	TCGA-HC-7747-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85714546-69c0-468e-b38a-3e0e886d44c7	67cdd8c3-0dbd-4b0d-87c3-49c9e86c24f6	g.chr6:3287259C>A	ENST00000406686.3	-	7	1379	c.1380G>T	c.(1378-1380)ccG>ccT	p.P460P	SLC22A23_ENST00000380302.4_Silent_p.P179P|SLC22A23_ENST00000490273.1_Silent_p.P179P|SLC22A23_ENST00000436008.2_Silent_p.P460P|PSMG4_ENST00000451246.2_Intron	NM_015482.1	NP_056297.1	A1A5C7	S22AN_HUMAN	solute carrier family 22, member 23	460					ion transport (GO:0006811)	integral component of membrane (GO:0016021)	transmembrane transporter activity (GO:0022857)			endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)	14	Ovarian(93;0.0493)	all_hematologic(90;0.0905)				TCTCCAGGAGCGGCACCTTCA	0.632																																						ENST00000436008.2																			0				endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)	14						c.(1378-1380)ccG>ccT		solute carrier family 22, member 23							149	103	118					6																	3287259		2203	4300	6503	SO:0001819	synonymous_variant	63027				ion transport	integral to membrane	transmembrane transporter activity	g.chr6:3287259C>A	AJ420525	CCDS34331.1, CCDS47363.1, CCDS75389.1	6p25.2	2013-05-22	2008-01-11	2008-01-11	ENSG00000137266	ENSG00000137266		"Solute carriers"	21106	protein-coding gene	gene with protein product		611697	"chromosome 6 open reading frame 85"	C6orf85		17714910	Standard	NM_015482		Approved	FLJ22174	uc003mvm.3	A1A5C7	OTTHUMG00000014144	ENST00000406686.3:c.1380G>T	6.37:g.3287259C>A						SLC22A23_ENST00000406686.3_Silent_p.P460P|PSMG4_ENST00000451246.2_Intron|SLC22A23_ENST00000490273.1_Silent_p.P179P|SLC22A23_ENST00000380302.4_Silent_p.P179P	p.P460P			A1A5C7	S22AN_HUMAN			7	1842	-	Ovarian(93;0.0493)	all_hematologic(90;0.0905)	460					A1A5C8|Q5T8B8|Q6ZMH3|Q8IW73	Silent	SNP	ENST00000406686.3	37	c.1380G>T	CCDS47363.1																																																																																				0.632	SLC22A23-006	KNOWN	not_organism_supported|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000353059.1	NM_021945		3	63	1	0	0.00909568	1	0.00979535	3	63					A	3287259	C	A	3287259	2	1	217	1	0	0	0	0	0	0	0	1	14452	755	27	5		5	SLC22A23	6	3287259	Silent	SNP	C	TCGA-HC-7747-01A-11D-2114-08		3287259	167827808	30	10000											
MAK	4117	broad.mit.edu	37	chr6	10784683	10784683	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gatatcttgattgtttcaagTagtactgtttagaggttgga	10	17	11	3	0	2	2	1	1	1	1	2	4	2	3	0	2	1	5	0	2	5	9			TCGA-HC-7747-01A-11D-2114-08	TCGA-HC-7747-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85714546-69c0-468e-b38a-3e0e886d44c7	67cdd8c3-0dbd-4b0d-87c3-49c9e86c24f6	g.chr6:10784683T>C	ENST00000313243.2	-	11	1821	c.1439A>G	c.(1438-1440)tAc>tGc	p.Y480C	MAK_ENST00000474039.1_Missense_Mutation_p.Y480C|RP11-637O19.3_ENST00000480294.1_Intron|MAK_ENST00000354489.2_Missense_Mutation_p.Y480C|MAK_ENST00000538030.1_3'UTR|SYCP2L_ENST00000543878.1_Intron			P20794	MAK_HUMAN	male germ cell-associated kinase	480					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|photoreceptor cell maintenance (GO:0045494)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|midbody (GO:0030496)|mitotic spindle (GO:0072686)|nucleus (GO:0005634)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672)|transcription coactivator activity (GO:0003713)			breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(8)|prostate(1)|skin(1)	22	Breast(50;0.107)|Ovarian(93;0.107)	all_hematologic(90;0.117)				TTGTTTCAAGTAGTACTGTTT	0.418																																						ENST00000313243.2																			0				breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(8)|prostate(1)|skin(1)	22						c.(1438-1440)tAc>tGc		male germ cell-associated kinase							137	129	132					6																	10784683		2203	4300	6503	SO:0001583	missense	4117				cell differentiation|multicellular organismal development|spermatogenesis		ATP binding|cyclin-dependent protein kinase activity	g.chr6:10784683T>C		CCDS4516.1, CCDS75398.1, CCDS75399.1	6p24.2	2014-01-28			ENSG00000111837	ENSG00000111837			6816	protein-coding gene	gene with protein product		154235				16951154	Standard	NM_005906		Approved	dJ417M14.2, RP62	uc021ylk.1	P20794	OTTHUMG00000014247	ENST00000313243.2:c.1439A>G	6.37:g.10784683T>C	ENSP00000313021:p.Tyr480Cys					MAK_ENST00000354489.2_Missense_Mutation_p.Y480C|MAK_ENST00000538030.1_3'UTR|SYCP2L_ENST00000543878.1_Intron|RP11-637O19.3_ENST00000480294.1_Intron|MAK_ENST00000474039.1_Missense_Mutation_p.Y480C	p.Y480C			P20794	MAK_HUMAN			11	1821	-	Breast(50;0.107)|Ovarian(93;0.107)	all_hematologic(90;0.117)	480					F1T0K6|G1FL29|Q547D0|Q9NUH7	Missense_Mutation	SNP	ENST00000313243.2	37	c.1439A>G	CCDS4516.1	.	.	.	.	.	.	.	.	.	.	T	18.97	3.735008	0.69189	.	.	ENSG00000111837	ENST00000313243;ENST00000354489	D;D	0.83837	-1.77;-1.77	4.99	4.99	0.66335	.	0.000000	0.85682	D	0.000000	D	0.88592	0.6478	M	0.77103	2.36	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.90409	0.4408	10	0.87932	D	0	.	12.9447	0.58365	0.0:0.0:0.0:1.0	.	480	P20794	MAK_HUMAN	C	480	ENSP00000313021:Y480C;ENSP00000346484:Y480C	ENSP00000313021:Y480C	Y	-	2	0	MAK	10892669	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.956000	0.63645	1.889000	0.54706	0.460000	0.39030	TAC		0.418	MAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039841.1	NM_005906		6	84	0	0	0	1	0	6	84					C	10784683	T	C	10784683	3	2	217	1	0	0	0	0	1	0	0	0	9197	1638	57	4	448	4	MAK	6	10784683	Missense_Mutation	SNP	T	TCGA-HC-7747-01A-11D-2114-08	7497424	10784683	160330384	31	10001											
PI16	221476	broad.mit.edu	37	chr6	36931339	36931339	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttccccaatacctctgccacCgctaatgccacgggtgggcg	7	8	10	16	3	1	0	0	0	1	0	2	0	2	0	6	2	3	1	6	2	3	3			TCGA-HC-7747-01A-11D-2114-08	TCGA-HC-7747-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85714546-69c0-468e-b38a-3e0e886d44c7	67cdd8c3-0dbd-4b0d-87c3-49c9e86c24f6	g.chr6:36931339C>T	ENST00000373674.3	+	5	1549	c.1221C>T	c.(1219-1221)acC>acT	p.T407T	PI16_ENST00000491324.1_Intron	NM_001199159.1|NM_153370.2	NP_001186088.1|NP_699201.2	Q6UXB8	PI16_HUMAN	peptidase inhibitor 16	407					negative regulation of cell growth involved in cardiac muscle cell development (GO:0061052)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	peptidase inhibitor activity (GO:0030414)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(13)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						CCTCTGCCACCGCTAATGCCA	0.612																																						ENST00000373674.3																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(13)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						c.(1219-1221)acC>acT		peptidase inhibitor 16							58	60	59					6																	36931339		2203	4300	6503	SO:0001819	synonymous_variant	221476					extracellular region|integral to membrane	peptidase inhibitor activity	g.chr6:36931339C>T		CCDS34440.1	6p21.31	2014-01-28	2005-08-17		ENSG00000164530	ENSG00000164530			21245	protein-coding gene	gene with protein product	"microseminoprotein, beta-binding protein"		"protease inhibitor 16"				Standard	NM_001199159		Approved	MGC45378, dJ90K10.5, MSMBBP	uc003ona.3	Q6UXB8	OTTHUMG00000014611	ENST00000373674.3:c.1221C>T	6.37:g.36931339C>T						PI16_ENST00000491324.1_Intron	p.T407T	NM_001199159.1|NM_153370.2	NP_001186088.1|NP_699201.2	Q6UXB8	PI16_HUMAN			5	1549	+			407					Q6ZVG9|Q8IYL8|Q8NBK0|Q8TCB8	Silent	SNP	ENST00000373674.3	37	c.1221C>T	CCDS34440.1																																																																																				0.612	PI16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040380.1	NM_153370		4	110	0	0	0	1	0	4	110					T	36931339	C	T	36931339	2	4	217	1	0	0	0	0	0	0	0	1	11869	639	23	2		2	PI16	6	36931339	Silent	SNP	C	TCGA-HC-7747-01A-11D-2114-08	26146656	36931339	134183728	32	10002											
MOXD1	26002	broad.mit.edu	37	chr6	132645229	132645229	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aacctcagtccagaattatcTattaagcctagaacaaaagc	17	9	5	10	0	2	2	1	0	1	2	3	2	3	2	3	0	4	0	3	0	9	4			TCGA-HC-7747-01A-11D-2114-08	TCGA-HC-7747-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85714546-69c0-468e-b38a-3e0e886d44c7	67cdd8c3-0dbd-4b0d-87c3-49c9e86c24f6	g.chr6:132645229T>G	ENST00000367963.3	-	7	1072	c.954A>C	c.(952-954)atA>atC	p.I318I	MOXD1_ENST00000489128.1_5'UTR|MOXD1_ENST00000336749.3_Silent_p.I250I	NM_015529.2	NP_056344.2	Q6UVY6	MOXD1_HUMAN	monooxygenase, DBH-like 1	318						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	copper ion binding (GO:0005507)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced ascorbate as one donor, and incorporation of one atom of oxygen (GO:0016715)			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(3)|skin(1)	37	Breast(56;0.0495)			OV - Ovarian serous cystadenocarcinoma(155;0.0132)|GBM - Glioblastoma multiforme(226;0.0191)		CAGAATTATCTATTAAGCCTA	0.348																																						ENST00000367963.3																			0				breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(3)|skin(1)	37						c.(952-954)atA>atC		monooxygenase, DBH-like 1							86	88	87					6																	132645229		2203	4300	6503	SO:0001819	synonymous_variant	26002				catecholamine metabolic process	endoplasmic reticulum membrane|integral to membrane	copper ion binding|dopamine beta-monooxygenase activity	g.chr6:132645229T>G	AY007239	CCDS5152.2	6q23.2	2010-09-24			ENSG00000079931	ENSG00000079931			21063	protein-coding gene	gene with protein product		609000				9751809	Standard	XM_006715456		Approved	DKFZP564G202, MOX, dJ248E1.1	uc003qdf.3	Q6UVY6	OTTHUMG00000055853	ENST00000367963.3:c.954A>C	6.37:g.132645229T>G						MOXD1_ENST00000489128.1_5'UTR|MOXD1_ENST00000336749.3_Silent_p.I250I	p.I318I	NM_015529.2	NP_056344.2	Q6UVY6	MOXD1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.0132)|GBM - Glioblastoma multiforme(226;0.0191)	7	1072	-	Breast(56;0.0495)		318					Q5THU6|Q8NC97|Q8WV49|Q9H4M6|Q9Y4U3	Silent	SNP	ENST00000367963.3	37	c.954A>C	CCDS5152.2																																																																																				0.348	MOXD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000125837.1	NM_015529		5	65	0	0	0	1	0	5	65					G	132645229	T	G	132645229	2	3	217	1	0	0	0	0	0	0	0	1	9720	1512	53	5		5	MOXD1	6	132645229	Silent	SNP	T	TCGA-HC-7747-01A-11D-2114-08	95713890	132645229	38469838	33	10003											
RP1	6101	broad.mit.edu	37	chr8	55540415	55540415	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	aggagaaccatacctatgagGgagcttgcccaattgatgag	13	8	12	8	0	0	4	0	3	0	1	0	6	0	5	3	2	4	1	3	2	4	4			TCGA-HC-7747-01A-11D-2114-08	TCGA-HC-7747-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85714546-69c0-468e-b38a-3e0e886d44c7	67cdd8c3-0dbd-4b0d-87c3-49c9e86c24f6	g.chr8:55540415G>A	ENST00000220676.1	+	4	4121	c.3973G>A	c.(3973-3975)Gga>Aga	p.G1325R		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	1325					axoneme assembly (GO:0035082)|cellular response to light stimulus (GO:0071482)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|photoreceptor cell outer segment organization (GO:0035845)|phototransduction, visible light (GO:0007603)|retinal cone cell development (GO:0046549)|retinal rod cell development (GO:0046548)|visual perception (GO:0007601)	axoneme (GO:0005930)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)	microtubule binding (GO:0008017)			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			TACCTATGAGGGAGCTTGCCC	0.393																																					Colon(91;1014 1389 7634 14542 40420)	ENST00000220676.1																			0				NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169						c.(3973-3975)Gga>Aga		retinitis pigmentosa 1 (autosomal dominant)							138	135	136					8																	55540415		2203	4300	6503	SO:0001583	missense	6101				axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding	g.chr8:55540415G>A	AF146592	CCDS6160.1	8q12.1	2013-01-08				ENSG00000104237			10263	protein-coding gene	gene with protein product		603937				1783394	Standard	NM_006269		Approved	DCDC4A	uc003xsd.1	P56715		ENST00000220676.1:c.3973G>A	8.37:g.55540415G>A	ENSP00000220676:p.Gly1325Arg						p.G1325R	NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)		4	4121	+		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	1325						Missense_Mutation	SNP	ENST00000220676.1	37	c.3973G>A	CCDS6160.1	.	.	.	.	.	.	.	.	.	.	G	0.710	-0.787448	0.02907	.	.	ENSG00000104237	ENST00000220676	T	0.20332	2.08	5.89	1.05	0.20165	.	1.942090	0.02329	N	0.073714	T	0.11239	0.0274	N	0.08118	0	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.20974	-1.0259	10	0.25751	T	0.34	.	4.642	0.12555	0.3276:0.0:0.5139:0.1585	.	1325	P56715	RP1_HUMAN	R	1325	ENSP00000220676:G1325R	ENSP00000220676:G1325R	G	+	1	0	RP1	55702968	0.000000	0.05858	0.002000	0.10522	0.134000	0.20937	-0.169000	0.09911	0.248000	0.21435	0.655000	0.94253	GGA		0.393	RP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378532.2	NM_006269		26	108	0	0	0	1	0	26	108					A	55540415	G	A	55540415	3	1	217	1	0	0	0	0	1	0	0	0	13532	1233	43	3	3983	3	RP1	8	55540415	Missense_Mutation	SNP	G	TCGA-HC-7747-01A-11D-2114-08		55540415	90823607	34	10004											
EFR3A	23167	broad.mit.edu	37	chr8	132966122	132966122	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttcgcaaaacagtcaacgaTgaacttcgggccaccatttg	12	9	9	11	3	1	1	1	1	0	0	3	2	1	1	2	1	3	2	2	1	4	3	rs369077283		TCGA-HC-7747-01A-11D-2114-08	TCGA-HC-7747-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85714546-69c0-468e-b38a-3e0e886d44c7	8e4f9702-4f15-422a-8e25-b973bd31e6da	g.chr8:132966122T>C	ENST00000254624.5	+	6	771	c.546T>C	c.(544-546)gaT>gaC	p.D182D	EFR3A_ENST00000519656.1_Silent_p.D146D|EFR3A_ENST00000334503.4_Silent_p.D182D	NM_015137.4	NP_055952.2	Q14156	EFR3A_HUMAN	EFR3 homolog A (S. cerevisiae)	182						extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|skin(1)|stomach(2)	35	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000805)|LUAD - Lung adenocarcinoma(14;0.102)			CAGTCAACGATGAACTTCGGG	0.363																																						ENST00000254624.5																			0				breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|skin(1)|stomach(2)	35						c.(544-546)gaT>gaC		EFR3 homolog A (S. cerevisiae)		T		1,4403		0,1,2201	65	54	58		546	0.7	1	8		58	0,8594		0,0,4297	no	coding-synonymous	EFR3A	NM_015137.4		0,1,6498	CC,CT,TT		0.0,0.0227,0.0077		182/822	132966122	1,12997	2202	4297	6499	SO:0001819	synonymous_variant	23167					plasma membrane	binding	g.chr8:132966122T>C	D63477	CCDS34942.2	8q24.22	2008-10-23			ENSG00000132294	ENSG00000132294			28970	protein-coding gene	gene with protein product		611798				15363888	Standard	NM_015137		Approved	KIAA0143	uc003yte.3	Q14156	OTTHUMG00000150552	ENST00000254624.5:c.546T>C	8.37:g.132966122T>C						EFR3A_ENST00000334503.4_Silent_p.D182D|EFR3A_ENST00000519656.1_Silent_p.D146D	p.D182D	NM_015137.4	NP_055952.2	Q14156	EFR3A_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000805)|LUAD - Lung adenocarcinoma(14;0.102)		6	771	+	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		182					A7MD19|Q2VPK2|Q63HL7|Q68DX1|Q6IQ18	Silent	SNP	ENST00000254624.5	37	c.546T>C	CCDS34942.2																																																																																				0.363	EFR3A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318886.1	NM_015137		2	7	0	0	0	1	0	2	7					C	132966122	T	C	132966122	2	2	217	1	0	0	0	0	0	0	0	1	4958	1461	51	4		4	EFR3A	8	132966122	Silent	SNP	T	TCGA-HC-7747-01A-11D-2114-08	77425707	132966122	13397900	35	10005											
KIAA1529	100499483	broad.mit.edu	37	chr9	100132347	100132347	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agttcgaggaacagcagaagCggctggagaaaagaaaggtg	16	4	16	5	2	0	3	0	0	0	3	1	6	0	4	0	4	3	3	0	4	5	1	rs141047389		TCGA-HC-7747-01A-11D-2114-08	TCGA-HC-7747-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85714546-69c0-468e-b38a-3e0e886d44c7	67cdd8c3-0dbd-4b0d-87c3-49c9e86c24f6	g.chr9:100132347C>T	ENST00000357054.1	+	44	5235	c.4300C>T	c.(4300-4302)Cgg>Tgg	p.R1434W	CCDC180_ENST00000395220.1_3'UTR|RP11-23J9.4_ENST00000534123.1_RNA|CCDC180_ENST00000529487.1_Missense_Mutation_p.R1489W|CCDC180_ENST00000375202.2_Missense_Mutation_p.R1489W			Q9P1Z9	CC180_HUMAN	coiled-coil domain containing 180	1434						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)											ACAGCAGAAGCGGCTGGAGAA	0.542																																						ENST00000375202.2																			0											c.(4465-4467)Cgg>Tgg		coiled-coil domain containing 180		C	TRP/ARG	0,4406		0,0,2203	38	43	41		4465	1.1	0	9	dbSNP_134	41	2,8598	2.2+/-6.3	0,2,4298	yes	missense	C9orf174	NM_020893.2	101	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	benign	1489/1702	100132347	2,13004	2203	4300	6503	SO:0001583	missense	100499483							g.chr9:100132347C>T	AK123391	CCDS35077.1, CCDS35077.2	9q22.33	2013-03-08	2013-03-08	2013-03-08		ENSG00000197816			29303	protein-coding gene	gene with protein product	"Behcet's Disease Associated Gene 1"		"KIAA1529", "chromosome 9 open reading frame 174"	KIAA1529, C9orf174		10819331	Standard	NM_020893		Approved	DKFZp434I2420, BDAG1	uc004axg.2	Q9P1Z9	OTTHUMG00000167001	ENST00000357054.1:c.4300C>T	9.37:g.100132347C>T	ENSP00000349562:p.Arg1434Trp					CCDC180_ENST00000357054.1_Missense_Mutation_p.R1434W|CCDC180_ENST00000529487.1_Missense_Mutation_p.R1489W|RP11-23J9.4_ENST00000534123.1_RNA|CCDC180_ENST00000395220.1_3'UTR	p.R1489W							46	5817	+								Q2KHR6|Q5VV25|Q68DP5|Q69YV9|Q6AHY0	Missense_Mutation	SNP	ENST00000357054.1	37	c.4465C>T		.	.	.	.	.	.	.	.	.	.	C	5.904	0.350950	0.11182	0.0	2.33E-4	ENSG00000197816	ENST00000357054;ENST00000375202;ENST00000529487	T;T;T	0.47177	0.85;0.85;0.85	5.31	1.13	0.20643	.	0.874621	0.10119	N	0.713615	T	0.29389	0.0732	N	0.19112	0.55	0.09310	N	1	B;B	0.30104	0.029;0.268	B;B	0.16289	0.005;0.015	T	0.13229	-1.0517	10	0.66056	D	0.02	-4.2502	8.6457	0.34005	0.4625:0.3996:0.1378:0.0	.	1628;1434	B7ZMG3;Q9P1Z9	.;CI174_HUMAN	W	1434;1489;1489	ENSP00000349562:R1434W;ENSP00000364348:R1489W;ENSP00000434727:R1489W	ENSP00000349562:R1434W	R	+	1	2	C9orf174	99172168	0.000000	0.05858	0.001000	0.08648	0.049000	0.14656	-0.649000	0.05384	0.008000	0.14787	-0.169000	0.13324	CGG		0.542	CCDC180-201	KNOWN	basic	protein_coding	protein_coding		NM_020893		4	29	0	0	0	1	0	4	29					T	100132347	C	T	100132347	3	4	217	1	0	0	0	0	1	0	0	0	8240	759	27	1	4430	1	KIAA1529	9	100132347	Missense_Mutation	SNP	C	TCGA-HC-7747-01A-11D-2114-08		100132347	41081084	36	10006											
ZER1	10444	broad.mit.edu	37	chr9	131517732	131517732	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgctgggcaagaagatgtccGgatgtagccgcagggtctcc	8	7	15	11	3	1	2	0	0	1	2	3	3	2	3	3	3	1	4	3	3	3	1	rs540575103		TCGA-HC-7747-01A-11D-2114-08	TCGA-HC-7747-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85714546-69c0-468e-b38a-3e0e886d44c7	67cdd8c3-0dbd-4b0d-87c3-49c9e86c24f6	g.chr9:131517732G>A	ENST00000291900.2	-	2	519	c.113C>T	c.(112-114)cCg>cTg	p.P38L	ZER1_ENST00000494461.1_Intron	NM_006336.2	NP_006327.2	Q7Z7L7	ZER1_HUMAN	zyg-11 related, cell cycle regulator	38					protein ubiquitination (GO:0016567)|regulation of ubiquitin-protein transferase activity (GO:0051438)	Cul2-RING ubiquitin ligase complex (GO:0031462)	ubiquitin-protein transferase activity (GO:0004842)	p.P38L(1)		endometrium(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	15						GAAGATGTCCGGATGTAGCCG	0.587													G|||	1	0.000199681	0	0	5008	,	,		22002	0.001		0	False		,,,				2504	0					ENST00000291900.2																			1	Substitution - Missense(1)	p.P38L(1)	large_intestine(1)	endometrium(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	15						c.(112-114)cCg>cTg		zyg-11 related, cell cycle regulator							138	122	128					9																	131517732		2203	4300	6503	SO:0001583	missense	10444				ATP hydrolysis coupled proton transport|regulation of ubiquitin-protein ligase activity	Cul2-RING ubiquitin ligase complex|vacuolar proton-transporting V-type ATPase, V1 domain	protein binding|proton-transporting ATPase activity, rotational mechanism|ubiquitin-protein ligase activity	g.chr9:131517732G>A	X99802	CCDS6910.1	9q33.3	2013-01-17	2012-12-10	2007-01-04	ENSG00000160445	ENSG00000160445		"ZYG11 cell cycle regulator family"	30960	protein-coding gene	gene with protein product			"chromosome 9 open reading frame 60", "zyg-11 homolog B (C. elegans)-like", "zer-1 homolog (C. elegans)"	C9orf60, ZYG11BL		11719588	Standard	NM_006336		Approved	ZYG, Hzyg	uc004bwa.2	Q7Z7L7	OTTHUMG00000020759	ENST00000291900.2:c.113C>T	9.37:g.131517732G>A	ENSP00000291900:p.Pro38Leu					ZER1_ENST00000494461.1_Intron	p.P38L	NM_006336.2	NP_006327.2	Q7Z7L7	ZER1_HUMAN			2	519	-			38					O00156|Q5T272|Q5T273	Missense_Mutation	SNP	ENST00000291900.2	37	c.113C>T	CCDS6910.1	.	.	.	.	.	.	.	.	.	.	G	29.4	5.005370	0.93287	.	.	ENSG00000160445	ENST00000291900;ENST00000414921;ENST00000427848	T	0.44482	0.92	5.51	5.51	0.81932	.	0.053208	0.85682	D	0.000000	T	0.41003	0.1140	L	0.29908	0.895	0.80722	D	1	D	0.58268	0.982	P	0.47102	0.537	T	0.16305	-1.0407	10	0.41790	T	0.15	-15.6742	18.7539	0.91825	0.0:0.0:1.0:0.0	.	38	Q7Z7L7	ZER1_HUMAN	L	38	ENSP00000291900:P38L	ENSP00000291900:P38L	P	-	2	0	ZER1	130557553	1.000000	0.71417	0.972000	0.41901	0.970000	0.65996	9.148000	0.94652	2.745000	0.94114	0.655000	0.94253	CCG		0.587	ZER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054491.1	NM_006336		4	174	0	0	0	1	0	4	174					A	131517732	G	A	131517732	3	1	217	1	0	0	0	0	1	0	0	0	17622	1116	39	2	2247	2	ZER1	9	131517732	Missense_Mutation	SNP	G	TCGA-HC-7747-01A-11D-2114-08	31385385	131517732	9695699	37	10007											
GAD2	2572	broad.mit.edu	37	chr10	26513522	26513522	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttggaatatgtcacactaaaGaaaatgagagaaatcattgg	18	10	9	4	0	2	3	2	1	0	2	2	5	2	4	0	2	0	0	0	2	7	4			TCGA-HC-7747-01A-11D-2114-08	TCGA-HC-7747-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85714546-69c0-468e-b38a-3e0e886d44c7	67cdd8c3-0dbd-4b0d-87c3-49c9e86c24f6	g.chr10:26513522G>T	ENST00000376261.3	+	6	1169	c.666G>T	c.(664-666)aaG>aaT	p.K222N	GAD2_ENST00000376248.1_Missense_Mutation_p.K108N|GAD2_ENST00000259271.3_Missense_Mutation_p.K222N	NM_001134366.1	NP_001127838.1	Q05329	DCE2_HUMAN	glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa)	222					glutamate decarboxylation to succinate (GO:0006540)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter secretion (GO:0007269)|response to drug (GO:0042493)|synaptic transmission (GO:0007268)	anchored component of membrane (GO:0031225)|axon (GO:0030424)|cell junction (GO:0030054)|clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane (GO:0061202)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|synaptic vesicle membrane (GO:0030672)	glutamate binding (GO:0016595)|glutamate decarboxylase activity (GO:0004351)|pyridoxal phosphate binding (GO:0030170)			central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(26)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						TCACACTAAAGAAAATGAGAG	0.378																																						ENST00000376261.3																			0				central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(26)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						c.(664-666)aaG>aaT		glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa)	L-Glutamic Acid(DB00142)						115	118	117					10																	26513522		2203	4300	6503	SO:0001583	missense	2572				glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion	cell junction|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|Golgi membrane|presynaptic membrane	glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding	g.chr10:26513522G>T	AJ251501	CCDS7149.1	10p13-p11.2	2003-11-11	2002-08-29		ENSG00000136750	ENSG00000136750	4.1.1.15		4093	protein-coding gene	gene with protein product		138275	"glutamate decarboxylase 2 (pancreatic islets and brain, 65kD)"			2039509	Standard	NM_000818		Approved	GAD65	uc001isp.2	Q05329	OTTHUMG00000017836	ENST00000376261.3:c.666G>T	10.37:g.26513522G>T	ENSP00000365437:p.Lys222Asn					GAD2_ENST00000376248.1_Missense_Mutation_p.K108N|GAD2_ENST00000259271.3_Missense_Mutation_p.K222N	p.K222N	NM_001134366.1	NP_001127838.1	Q05329	DCE2_HUMAN			6	1169	+			222					Q9UD87	Missense_Mutation	SNP	ENST00000376261.3	37	c.666G>T	CCDS7149.1	.	.	.	.	.	.	.	.	.	.	G	15.98	2.992243	0.54041	.	.	ENSG00000136750	ENST00000376261;ENST00000259271;ENST00000376248	T;T;T	0.35421	1.31;1.31;1.31	5.21	4.31	0.51392	Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.246394	0.46758	D	0.000264	T	0.40645	0.1125	M	0.71920	2.185	0.80722	D	1	B	0.19706	0.038	B	0.24006	0.05	T	0.34527	-0.9825	10	0.52906	T	0.07	-19.4394	13.9159	0.63897	0.0735:0.0:0.9265:0.0	.	222	Q05329	DCE2_HUMAN	N	222;222;108	ENSP00000365437:K222N;ENSP00000259271:K222N;ENSP00000365424:K108N	ENSP00000259271:K222N	K	+	3	2	GAD2	26553528	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.650000	0.61440	1.206000	0.43276	0.655000	0.94253	AAG		0.378	GAD2-001	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047255.1	NM_000818		5	120	1	0	0.0293803	1	0.0312399	5	120					T	26513522	G	T	26513522	3	4	217	1	0	0	0	0	1	0	0	0	6180	933	33	5	688	5	GAD2	10	26513522	Missense_Mutation	SNP	G	TCGA-HC-7747-01A-11D-2114-08		26513522	109021225	38	10008											
AGAP6	414189	broad.mit.edu	37	chr10	51754173	51754173	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agttgtagaaataagaagaaGcaactgtacaaaccatgtaa	20	8	8	5	0	0	3	0	0	0	3	0	3	0	3	1	0	4	5	1	0	9	5	rs569602183	byFrequency	TCGA-HC-7747-01A-11D-2114-08	TCGA-HC-7747-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85714546-69c0-468e-b38a-3e0e886d44c7	67cdd8c3-0dbd-4b0d-87c3-49c9e86c24f6	g.chr10:51754173G>T	ENST00000374056.4	+	3	709	c.311G>T	c.(310-312)aGc>aTc	p.S104I	AGAP6_ENST00000412531.3_Missense_Mutation_p.S127I			Q5VW22	AGAP6_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 6	104					regulation of ARF GTPase activity (GO:0032312)		ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)	p.S127I(2)		NS(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(1)|lung(8)|prostate(3)|skin(1)|stomach(2)	29						ATAAGAAGAAGCAACTGTACA	0.269																																						ENST00000374056.4																			2	Substitution - Missense(2)	p.S127I(2)	prostate(1)|kidney(1)	NS(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(1)|lung(8)|prostate(3)|skin(1)|stomach(2)	29						c.(310-312)aGc>aTc		ArfGAP with GTPase domain, ankyrin repeat and PH domain 6							47	39	41					10																	51754173		692	1583	2275	SO:0001583	missense	414189				regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding	g.chr10:51754173G>T		CCDS44397.1	10q11.23	2013-01-10	2008-09-22	2008-09-22	ENSG00000204149	ENSG00000204149		"ADP-ribosylation factor GTPase activating proteins", "Pleckstrin homology (PH) domain containing", "Ankyrin repeat domain containing"	23466	protein-coding gene	gene with protein product			"centaurin, gamma-like family, member 3"	CTGLF3			Standard	NM_001077665		Approved	bA324H6.1	uc001jix.4	Q5VW22	OTTHUMG00000018220	ENST00000374056.4:c.311G>T	10.37:g.51754173G>T	ENSP00000363168:p.Ser104Ile					AGAP6_ENST00000412531.3_Missense_Mutation_p.S127I	p.S104I			C9IYN2	C9IYN2_HUMAN			3	709	+			127						Missense_Mutation	SNP	ENST00000374056.4	37	c.311G>T		.	.	.	.	.	.	.	.	.	.	G	3.288	-0.145481	0.06627	.	.	ENSG00000204149	ENST00000374056;ENST00000412531	D	0.88124	-2.34	1.7	0.742	0.18341	.	0.278236	0.34555	N	0.003870	D	0.82788	0.5113	M	0.75615	2.305	0.21020	N	0.99981	B	0.26935	0.164	B	0.19946	0.027	T	0.74839	-0.3528	10	0.72032	D	0.01	.	6.1199	0.20148	0.1849:0.0:0.8151:0.0	.	127	C9IYN2	.	I	127;104	ENSP00000400972:S104I	ENSP00000363168:S127I	S	+	2	0	AGAP6	51424179	1.000000	0.71417	0.936000	0.37596	0.258000	0.26162	1.038000	0.30254	0.263000	0.21812	0.184000	0.17185	AGC		0.269	AGAP6-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_001077665		3	50	1	0	0.115264	1	0.119533	3	50					T	51754173	G	T	51754173	3	4	217	1	0	0	0	0	1	0	0	0	372	971	34	5	394	5	AGAP6	10	51754173	Missense_Mutation	SNP	G	TCGA-HC-7747-01A-11D-2114-08	25240651	51754173	83780574	39	10009											
CSTF2T	23283	broad.mit.edu	37	chr10	53458034	53458034	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tacacgtgtctctaagacctCagtttccatggcacgagtct	9	12	8	12	2	3	1	1	0	2	1	5	2	4	1	2	1	1	2	2	1	2	3			TCGA-HC-7747-01A-11D-2114-08	TCGA-HC-7747-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85714546-69c0-468e-b38a-3e0e886d44c7	67cdd8c3-0dbd-4b0d-87c3-49c9e86c24f6	g.chr10:53458034C>T	ENST00000331173.4	-	1	1321	c.1276G>A	c.(1276-1278)Gag>Aag	p.E426K	PRKG1_ENST00000373980.4_Intron|PRKG1_ENST00000401604.2_Intron|PRKG1_ENST00000373985.1_Intron	NM_015235.2	NP_056050.1	Q9H0L4	CSTFT_HUMAN	cleavage stimulation factor, 3' pre-RNA, subunit 2, 64kDa, tau variant	426	9 X 5 AA tandem repeats of M-E-T-R-[AG].|Gly-rich.				mRNA processing (GO:0006397)	intracellular (GO:0005622)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	30				COAD - Colon adenocarcinoma(2;0.00736)|Colorectal(2;0.00898)|all cancers(4;0.0188)|GBM - Glioblastoma multiforme(4;0.0778)|Epithelial(53;0.122)		TCTAAGACCTCAGTTTCCATG	0.527																																						ENST00000331173.4																			0				NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						c.(1276-1278)Gag>Aag		cleavage stimulation factor, 3' pre-RNA, subunit 2, 64kDa, tau variant							196	178	184					10																	53458034		2203	4300	6503	SO:0001583	missense	23283				mRNA processing	nucleus	nucleotide binding|RNA binding	g.chr10:53458034C>T	AB014589	CCDS7245.1	10q11	2013-02-12			ENSG00000177613	ENSG00000177613		"RNA binding motif (RRM) containing"	17086	protein-coding gene	gene with protein product		611968				12408968, 11113135	Standard	NM_015235		Approved	DKFZp434C1013, KIAA0689, CstF-64T	uc001jjp.3	Q9H0L4	OTTHUMG00000018246	ENST00000331173.4:c.1276G>A	10.37:g.53458034C>T	ENSP00000332444:p.Glu426Lys					PRKG1_ENST00000373985.1_Intron|PRKG1_ENST00000401604.2_Intron|PRKG1_ENST00000373980.4_Intron	p.E426K	NM_015235.2	NP_056050.1	Q9H0L4	CSTFT_HUMAN		COAD - Colon adenocarcinoma(2;0.00736)|Colorectal(2;0.00898)|all cancers(4;0.0188)|GBM - Glioblastoma multiforme(4;0.0778)|Epithelial(53;0.122)	1	1321	-			426			9 X 5 AA tandem repeats of M-E-T-R-[AG].|Gly-rich.		B2RAR9|O75174|Q53HK6|Q7LGE8|Q8N6T1	Missense_Mutation	SNP	ENST00000331173.4	37	c.1276G>A	CCDS7245.1	.	.	.	.	.	.	.	.	.	.	C	11.81	1.749004	0.30955	.	.	ENSG00000177613	ENST00000331173	T	0.20332	2.08	5.22	3.33	0.38152	.	0.817969	0.11031	N	0.607176	T	0.10766	0.0263	N	0.08118	0	0.09310	N	1	B	0.24533	0.105	B	0.24006	0.05	T	0.27739	-1.0065	10	0.24483	T	0.36	-2.3009	8.8354	0.35109	0.0:0.7594:0.1554:0.0852	.	426	Q9H0L4	CSTFT_HUMAN	K	426	ENSP00000332444:E426K	ENSP00000332444:E426K	E	-	1	0	CSTF2T	53128040	0.009000	0.17119	0.106000	0.21319	0.938000	0.57974	0.873000	0.28052	1.537000	0.49254	0.655000	0.94253	GAG		0.527	CSTF2T-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048097.1	NM_015235		8	90	0	0	0	1	0	8	90					T	53458034	C	T	53458034	3	4	217	1	0	0	0	0	1	0	0	0	3985	835	29	3	578	3	CSTF2T	10	53458034	Missense_Mutation	SNP	C	TCGA-HC-7747-01A-11D-2114-08	1703861	53458034	82076713	40	10010											
SEC24C	9632	broad.mit.edu	37	chr10	75530065	75530065	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctcccgttgagagtactaccGaaccaccagcagttcgagcc	10	7	9	15	3	0	1	0	1	0	1	2	4	1	1	5	0	5	4	5	0	3	4			TCGA-HC-7747-01A-11D-2114-08	TCGA-HC-7747-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85714546-69c0-468e-b38a-3e0e886d44c7	67cdd8c3-0dbd-4b0d-87c3-49c9e86c24f6	g.chr10:75530065G>A	ENST00000339365.2	+	22	3052	c.2890G>A	c.(2890-2892)Gaa>Aaa	p.E964K	FUT11_ENST00000372841.3_5'Flank|SEC24C_ENST00000540668.1_Missense_Mutation_p.E212K|SEC24C_ENST00000496827.1_3'UTR|SEC24C_ENST00000535742.1_Missense_Mutation_p.E212K|SEC24C_ENST00000411652.2_Missense_Mutation_p.E845K|FUT11_ENST00000394790.1_5'Flank|SEC24C_ENST00000345254.4_Missense_Mutation_p.E964K	NM_004922.3	NP_004913.2	P53992	SC24C_HUMAN	SEC24 family member C	964					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular protein metabolic process (GO:0044267)|COPII vesicle coating (GO:0048208)|ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|small molecule metabolic process (GO:0044281)	COPII vesicle coat (GO:0030127)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)	zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(12)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	Prostate(51;0.0112)					GAGTACTACCGAACCACCAGC	0.507																																						ENST00000339365.2																			0				breast(2)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(12)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32						c.(2890-2892)Gaa>Aaa		SEC24 family member C							184	189	188					10																	75530065		2203	4300	6503	SO:0001583	missense	9632				COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	protein binding|zinc ion binding	g.chr10:75530065G>A	D38555	CCDS7332.1	10q22	2013-10-21	2013-10-21		ENSG00000176986	ENSG00000176986			10705	protein-coding gene	gene with protein product		607185	"SEC24 (S. cerevisiae) related gene family, member C", "SEC24 family, member C (S. cerevisiae)"			10214955, 7584044	Standard	NM_004922		Approved	KIAA0079	uc001jux.3	P53992	OTTHUMG00000018476	ENST00000339365.2:c.2890G>A	10.37:g.75530065G>A	ENSP00000343405:p.Glu964Lys					SEC24C_ENST00000411652.2_Missense_Mutation_p.E845K|SEC24C_ENST00000540668.1_Missense_Mutation_p.E212K|SEC24C_ENST00000535742.1_Missense_Mutation_p.E212K|SEC24C_ENST00000496827.1_3'UTR|SEC24C_ENST00000345254.4_Missense_Mutation_p.E964K	p.E964K	NM_004922.3	NP_004913.2	P53992	SC24C_HUMAN			22	3052	+	Prostate(51;0.0112)		964					B4DZT4|Q8WV25	Missense_Mutation	SNP	ENST00000339365.2	37	c.2890G>A	CCDS7332.1	.	.	.	.	.	.	.	.	.	.	G	8.293	0.818235	0.16607	.	.	ENSG00000176986	ENST00000535742;ENST00000345254;ENST00000540668;ENST00000339365;ENST00000411652	T;T;T;T;T	0.29397	1.57;1.57;1.57;1.57;1.57	5.91	5.91	0.95273	Gelsolin domain (1);	0.113535	0.64402	D	0.000016	T	0.27832	0.0685	L	0.54323	1.7	0.30635	N	0.757121	B;P	0.39847	0.357;0.691	B;B	0.32583	0.021;0.148	T	0.41342	-0.9514	10	0.52906	T	0.07	-11.8294	13.0263	0.58817	0.0:0.0:0.7993:0.2007	.	845;964	E7EP00;P53992	.;SC24C_HUMAN	K	212;964;212;964;845	ENSP00000446174:E212K;ENSP00000321845:E964K;ENSP00000445023:E212K;ENSP00000343405:E964K;ENSP00000402913:E845K	ENSP00000343405:E964K	E	+	1	0	SEC24C	75200071	0.999000	0.42202	0.995000	0.50966	0.425000	0.31504	3.275000	0.51639	2.791000	0.96007	0.655000	0.94253	GAA		0.507	SEC24C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048679.1			4	288	0	0	0	1	0	4	288					A	75530065	G	A	75530065	3	1	217	1	0	0	0	0	1	0	0	0	13996	1059	37	2	2968	2	SEC24C	10	75530065	Missense_Mutation	SNP	G	TCGA-HC-7747-01A-11D-2114-08	22072031	75530065	60004682	41	10011											
SLCO2B1	11309	broad.mit.edu	37	chr11	74904264	74904264	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgcactcgcccccacagtCttccccagggtgctgctgca	5	9	9	18	1	2	0	0	0	2	0	4	0	3	0	4	1	4	4	4	1	0	1			TCGA-HC-7747-01A-11D-2114-08	TCGA-HC-7747-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85714546-69c0-468e-b38a-3e0e886d44c7	67cdd8c3-0dbd-4b0d-87c3-49c9e86c24f6	g.chr11:74904264C>A	ENST00000289575.5	+	9	1472	c.1077C>A	c.(1075-1077)gtC>gtA	p.V359V	SLCO2B1_ENST00000454962.2_Splice_Site_p.V132V|SLCO2B1_ENST00000341411.4_Splice_Site_p.V132V|SLCO2B1_ENST00000531756.1_Splice_Site_p.V104V|SLCO2B1_ENST00000525650.1_Splice_Site_p.V215V|SLCO2B1_ENST00000428359.2_Splice_Site_p.V337V|SLCO2B1_ENST00000532236.1_Splice_Site_p.V243V	NM_007256.4	NP_009187	O94956	SO2B1_HUMAN	solute carrier organic anion transporter family, member 2B1	359					liver development (GO:0001889)|sodium-independent icosanoid transport (GO:0071718)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bile acid transmembrane transporter activity (GO:0015125)|organic anion transmembrane transporter activity (GO:0008514)|sodium-independent organic anion transmembrane transporter activity (GO:0015347)			breast(2)|endometrium(1)|large_intestine(7)|lung(20)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	39					Acetic acid(DB03166)|Alprostadil(DB00770)|Atorvastatin(DB01076)|Benzylpenicillin(DB01053)|Conjugated Estrogens(DB00286)|Digoxin(DB00390)|Dinoprostone(DB00917)|Ergoloid mesylate(DB01049)|Estradiol(DB00783)|Estrone(DB00655)|Fexofenadine(DB00950)|Fluvastatin(DB01095)|Glyburide(DB01016)|Ibuprofen(DB01050)|Iloprost(DB01088)|Latanoprost(DB00654)|Montelukast(DB00471)|Niacin(DB00627)|Pitavastatin(DB08860)|Pravastatin(DB00175)|Rifampicin(DB01045)|Rosuvastatin(DB01098)|Salicylic acid(DB00936)|Tolbutamide(DB01124)	CCCCCACAGTCTTCCCCAGGG	0.617																																						ENST00000289575.5																			0				breast(2)|endometrium(1)|large_intestine(7)|lung(20)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	39						c.e9-1		solute carrier organic anion transporter family, member 2B1	Ergoloid mesylate(DB01049)						68	67	68					11																	74904264		2200	4293	6493	SO:0001630	splice_region_variant	11309				sodium-independent organic anion transport	integral to membrane	sodium-independent organic anion transmembrane transporter activity	g.chr11:74904264C>A	AB026256	CCDS8235.1, CCDS44683.1, CCDS53679.1	11q13	2013-05-22	2003-11-25	2003-11-26				"Solute carriers"	10962	protein-coding gene	gene with protein product		604988	"solute carrier family 21 (organic anion transporter), member 9"	SLC21A9			Standard	NM_007256		Approved	OATP-B, OATP2B1	uc001owb.3	O94956		ENST00000289575.5:c.1076-1C>A	11.37:g.74904264C>A						SLCO2B1_ENST00000532236.1_Splice_Site_p.V243_splice|SLCO2B1_ENST00000428359.2_Splice_Site_p.V337_splice|SLCO2B1_ENST00000341411.4_Splice_Site_p.V132_splice|SLCO2B1_ENST00000525650.1_Splice_Site_p.V215_splice|SLCO2B1_ENST00000454962.2_Splice_Site_p.V132_splice|SLCO2B1_ENST00000531756.1_Splice_Site_p.V104_splice	p.V359_splice	NM_007256.4	NP_009187.1	O94956	SO2B1_HUMAN			9	1472	+			359					A8K2G9|B4DGA9|B4DTB0|E7ERN5|E9PPU8|Q9H2Z0|Q9UFU1	Splice_Site	SNP	ENST00000289575.5	37	c.1075_splice	CCDS8235.1																																																																																				0.617	SLCO2B1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000383933.1	NM_007256	Silent	5	120	1	0	0.000157383	1	0.000176269	5	120					A	74904264	C	A	74904264	5	1	217	1	0	0	0	0	0	0	1	0	14727	927	32	5	1111	5	SLCO2B1	11	74904264	Splice_Site	SNP	C	TCGA-HC-7747-01A-11D-2114-08		74904264	60102252	42	10012											
PRKAG1	5571	broad.mit.edu	37	chr12	49398943	49398943	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgttcttctagctcatagatCtgtacctgaaagcagaagca	12	12	8	9	0	4	3	1	1	3	2	4	3	4	3	1	0	4	5	1	0	5	5			TCGA-HC-7747-01A-11D-2114-08	TCGA-HC-7747-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85714546-69c0-468e-b38a-3e0e886d44c7	67cdd8c3-0dbd-4b0d-87c3-49c9e86c24f6	g.chr12:49398943C>A	ENST00000548065.1	-	6	771	c.315G>T	c.(313-315)caG>caT	p.Q105H	RP11-386G11.5_ENST00000547866.1_RNA|PRKAG1_ENST00000395170.3_Missense_Mutation_p.Q21H|PRKAG1_ENST00000316299.5_Missense_Mutation_p.Q114H|RP11-386G11.5_ENST00000552284.1_RNA|RP11-386G11.5_ENST00000552933.1_RNA|PRKAG1_ENST00000552212.1_Missense_Mutation_p.Q73H|PRKAG1_ENST00000547306.1_Missense_Mutation_p.Q54H|RP11-386G11.5_ENST00000547395.1_RNA			P54619	AAKG1_HUMAN	protein kinase, AMP-activated, gamma 1 non-catalytic subunit	105					cell cycle arrest (GO:0007050)|fatty acid biosynthetic process (GO:0006633)|insulin receptor signaling pathway (GO:0008286)|membrane organization (GO:0061024)|positive regulation of gene expression (GO:0010628)|positive regulation of protein kinase activity (GO:0045860)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of glycolytic process (GO:0006110)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)	AMP-activated protein kinase complex (GO:0031588)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	ADP binding (GO:0043531)|AMP binding (GO:0016208)|ATP binding (GO:0005524)|cAMP-dependent protein kinase activity (GO:0004691)|cAMP-dependent protein kinase regulator activity (GO:0008603)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)			cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	9					Acetylsalicylic acid(DB00945)	GCTCATAGATCTGTACCTGAA	0.423																																						ENST00000548065.1																			0				cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	9						c.(313-315)caG>caT		protein kinase, AMP-activated, gamma 1 non-catalytic subunit							134	133	133					12																	49398943		2203	4300	6503	SO:0001583	missense	5571				cell cycle arrest|fatty acid biosynthetic process|insulin receptor signaling pathway|positive regulation of protein kinase activity|regulation of fatty acid oxidation|regulation of glycolysis|spermatogenesis	cytosol	cAMP-dependent protein kinase activity|cAMP-dependent protein kinase regulator activity|protein kinase binding	g.chr12:49398943C>A	U42412	CCDS8777.1, CCDS55824.1, CCDS55825.1	12q12-q14	1998-07-16				ENSG00000181929			9385	protein-coding gene	gene with protein product		602742				8557660, 8621499	Standard	NM_002733		Approved		uc001rsz.3	P54619	OTTHUMG00000170406	ENST00000548065.1:c.315G>T	12.37:g.49398943C>A	ENSP00000447433:p.Gln105His					PRKAG1_ENST00000395170.3_Missense_Mutation_p.Q21H|RP11-386G11.5_ENST00000552933.1_RNA|PRKAG1_ENST00000552212.1_Missense_Mutation_p.Q73H|RP11-386G11.5_ENST00000547866.1_RNA|RP11-386G11.5_ENST00000552284.1_RNA|PRKAG1_ENST00000316299.5_Missense_Mutation_p.Q114H|RP11-386G11.5_ENST00000547395.1_RNA|PRKAG1_ENST00000547306.1_Missense_Mutation_p.Q54H	p.Q105H			P54619	AAKG1_HUMAN			6	771	-			105					B4DDT7|Q8N7V9	Missense_Mutation	SNP	ENST00000548065.1	37	c.315G>T	CCDS8777.1	.	.	.	.	.	.	.	.	.	.	C	14.51	2.556501	0.45487	.	.	ENSG00000181929	ENST00000395170;ENST00000547306;ENST00000316299;ENST00000548065;ENST00000552212;ENST00000551770;ENST00000551696;ENST00000548950;ENST00000551121;ENST00000552463;ENST00000548857;ENST00000548605	D;D;D;D;D;D;D;D;D;D;D;T	0.91521	-2.86;-2.86;-2.86;-2.86;-2.86;-2.86;-2.86;-2.86;-2.86;-2.86;-2.86;0.48	6.07	3.21	0.36854	Aldolase-type TIM barrel (1);	0.000000	0.85682	D	0.000000	D	0.89322	0.6682	M	0.83603	2.65	0.50171	D	0.99985	B;B;B	0.32876	0.348;0.388;0.098	B;B;B	0.29524	0.103;0.048;0.019	D	0.85956	0.1467	10	0.66056	D	0.02	-13.834	9.7338	0.40376	0.0:0.7651:0.0:0.2349	.	105;114;105	B4E094;Q8N7V9;P54619	.;.;AAKG1_HUMAN	H	21;54;114;105;73;80;54;21;73;73;73;21	ENSP00000378599:Q21H;ENSP00000448873:Q54H;ENSP00000323867:Q114H;ENSP00000447433:Q105H;ENSP00000448972:Q73H;ENSP00000449121:Q80H;ENSP00000447671:Q54H;ENSP00000450112:Q21H;ENSP00000449637:Q73H;ENSP00000448251:Q73H;ENSP00000448739:Q73H;ENSP00000449104:Q21H	ENSP00000323867:Q114H	Q	-	3	2	PRKAG1	47685210	0.992000	0.36948	1.000000	0.80357	0.999000	0.98932	0.343000	0.19944	0.411000	0.25702	0.655000	0.94253	CAG		0.423	PRKAG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408946.1	NM_002733		5	118	1	0	1	1	1	5	118					A	49398943	C	A	49398943	3	1	217	1	0	0	0	0	1	0	0	0	12500	912	32	5	708	5	PRKAG1	12	49398943	Missense_Mutation	SNP	C	TCGA-HC-7747-01A-11D-2114-08		49398943	84452952	43	10013											
ERBB3	2065	broad.mit.edu	37	chr12	56481660	56481660	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gtgctgccatgatgagtgtgCcgggggctgctcaggccctc	4	9	16	12	1	1	2	1	2	0	0	2	2	1	2	3	3	4	3	3	3	0	0			TCGA-HC-7747-01A-11D-2114-08	TCGA-HC-7747-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85714546-69c0-468e-b38a-3e0e886d44c7	67cdd8c3-0dbd-4b0d-87c3-49c9e86c24f6	g.chr12:56481660C>T	ENST00000267101.3	+	6	1135	c.695C>T	c.(694-696)gCc>gTc	p.A232V	ERBB3_ENST00000415288.2_Missense_Mutation_p.A173V|ERBB3_ENST00000450146.2_Intron	NM_001982.3	NP_001973.2	P21860	ERBB3_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3	232					cranial nerve development (GO:0021545)|endocardial cushion development (GO:0003197)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|negative regulation of cell adhesion (GO:0007162)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of secretion (GO:0051048)|negative regulation of signal transduction (GO:0009968)|neuron apoptotic process (GO:0051402)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein tyrosine kinase activity (GO:0061098)|regulation of cell proliferation (GO:0042127)|Schwann cell differentiation (GO:0014037)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein tyrosine kinase activator activity (GO:0030296)|transmembrane signaling receptor activity (GO:0004888)			central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	8			OV - Ovarian serous cystadenocarcinoma(18;0.112)			GATGAGTGTGCCGGGGGCTGC	0.547																																						ENST00000267101.3																			0				central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	8						c.(694-696)gCc>gTc		v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3							142	137	138					12																	56481660		2203	4300	6503	SO:0001583	missense	2065				cranial nerve development|heart development|negative regulation of cell adhesion|negative regulation of neuron apoptosis|negative regulation of secretion|negative regulation of signal transduction|neuron apoptosis|phosphatidylinositol 3-kinase cascade|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of cell proliferation|Schwann cell differentiation|transmembrane receptor protein tyrosine kinase signaling pathway|wound healing	basolateral plasma membrane|extracellular space|integral to plasma membrane|receptor complex	ATP binding|growth factor binding|protein heterodimerization activity|protein homodimerization activity|protein tyrosine kinase activator activity|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity	g.chr12:56481660C>T	M34309	CCDS31833.1, CCDS44918.1	12q13	2013-07-09	2013-07-09			ENSG00000065361			3431	protein-coding gene	gene with protein product		190151	"lethal congenital contracture syndrome 2"	LCCS2			Standard	NM_001982		Approved	HER3	uc001sjh.3	P21860	OTTHUMG00000170140	ENST00000267101.3:c.695C>T	12.37:g.56481660C>T	ENSP00000267101:p.Ala232Val					ERBB3_ENST00000450146.2_Intron|ERBB3_ENST00000415288.2_Missense_Mutation_p.A173V	p.A232V	NM_001982.3	NP_001973.2	P21860	ERBB3_HUMAN	OV - Ovarian serous cystadenocarcinoma(18;0.112)		6	1135	+			232					A8K6L6|B4DIK7|B4DV32|E9PDT8|Q9BUD7	Missense_Mutation	SNP	ENST00000267101.3	37	c.695C>T	CCDS31833.1	.	.	.	.	.	.	.	.	.	.	C	35	5.561038	0.96527	.	.	ENSG00000065361	ENST00000267101;ENST00000394099;ENST00000415288	D;D	0.84223	-1.82;-1.82	5.69	5.69	0.88448	Growth factor, receptor (1);Furin-like cysteine-rich domain (1);	0.000000	0.64402	D	0.000005	D	0.93733	0.7997	M	0.88181	2.935	0.80722	D	1	D	0.89917	1.0	D	0.76575	0.988	D	0.94397	0.7619	10	0.87932	D	0	.	18.5835	0.91180	0.0:1.0:0.0:0.0	.	232	P21860	ERBB3_HUMAN	V	232;232;173	ENSP00000267101:A232V;ENSP00000408340:A173V	ENSP00000267101:A232V	A	+	2	0	ERBB3	54767927	1.000000	0.71417	0.999000	0.59377	0.990000	0.78478	7.481000	0.81124	2.685000	0.91497	0.655000	0.94253	GCC		0.547	ERBB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407619.3			9	201	0	0	0	1	0	9	201					T	56481660	C	T	56481660	3	4	217	1	0	0	0	0	1	0	0	0	5208	739	26	3	848	3	ERBB3	12	56481660	Missense_Mutation	SNP	C	TCGA-HC-7747-01A-11D-2114-08	7082717	56481660	77370235	44	10014											
NAP1L1	4673	broad.mit.edu	37	chr12	76444310	76444312	+	Splice_Site	DEL	CAT	CAT	-																															gcaggattcaaattcgcttaCatcatcatcatcatcttcaa																										TCGA-HC-7747-01A-11D-2114-08	TCGA-HC-7747-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85714546-69c0-468e-b38a-3e0e886d44c7	67cdd8c3-0dbd-4b0d-87c3-49c9e86c24f6	g.chr12:76444310_76444312delCAT	ENST00000261182.8	-	12	1544_1546	c.1058_1060delATG	c.(1057-1062)gatgat>gat	p.353_354DD>D	NAP1L1_ENST00000549596.1_Splice_Site_p.353_354DD>D|NAP1L1_ENST00000552342.1_Splice_Site_p.364_365DD>D|NAP1L1_ENST00000548044.1_Splice_Site_p.312_313DD>D|NAP1L1_ENST00000431879.3_Splice_Site_p.285_286DD>D|NAP1L1_ENST00000393263.3_Splice_Site_p.353_354DD>D|NAP1L1_ENST00000547773.1_Splice_Site_p.290_291DD>D|NAP1L1_ENST00000544816.1_Splice_Site_p.170_171DD>D|NAP1L1_ENST00000547993.1_Splice_Site_p.170_171DD>D|NAP1L1_ENST00000542344.1_Splice_Site_p.311_312DD>D|NAP1L1_ENST00000535020.2_Splice_Site_p.353_354DD>D	NM_004537.4|NM_139207.2	NP_004528.1|NP_631946.1	P55209	NP1L1_HUMAN	nucleosome assembly protein 1-like 1	353	Asp/Glu-rich (acidic).				DNA replication (GO:0006260)|nucleosome assembly (GO:0006334)|positive regulation of cell proliferation (GO:0008284)	membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			kidney(1)|large_intestine(1)|lung(3)|ovary(2)|prostate(1)|skin(1)	9		Colorectal(145;0.09)				AATTCGCTTACATCATCATCATC	0.345																																						ENST00000261182.8																			0				kidney(1)|large_intestine(1)|lung(3)|ovary(2)|prostate(1)|skin(1)	9						c.e12+1		nucleosome assembly protein 1-like 1			,	12,4252		5,2,2125					,	5.7	1			67	26,8228		12,2,4113	no	coding-near-splice,coding-near-splice	NAP1L1	NM_139207.2,NM_004537.4	,	17,4,6238	A1A1,A1R,RR		0.315,0.2814,0.3036	,	,		38,12480				SO:0001630	splice_region_variant	4673				DNA replication|nucleosome assembly|positive regulation of cell proliferation	chromatin assembly complex|melanosome	protein binding	g.chr12:76444310_76444312delCAT		CCDS9013.1	12q21.1	2010-03-17			ENSG00000187109	ENSG00000187109			7637	protein-coding gene	gene with protein product		164060				8297347	Standard	NM_004537		Approved	NRP, NAP1, NAP1L, MGC8688, MGC23410	uc001sxx.2	P55209		ENST00000261182.8:c.1059+1ATG>-	12.37:g.76444319_76444321delCAT						NAP1L1_ENST00000548044.1_Splice_Site_p.D313_splice|NAP1L1_ENST00000542344.1_Splice_Site_p.D312_splice|NAP1L1_ENST00000544816.1_Splice_Site_p.D171_splice|NAP1L1_ENST00000393263.3_Splice_Site_p.D354_splice|NAP1L1_ENST00000552342.1_Splice_Site_p.D365_splice|NAP1L1_ENST00000547773.1_Splice_Site_p.D291_splice|NAP1L1_ENST00000535020.2_Splice_Site_p.D354_splice|NAP1L1_ENST00000547993.1_Splice_Site_p.D171_splice|NAP1L1_ENST00000431879.3_Splice_Site_p.D286_splice|NAP1L1_ENST00000549596.1_Splice_Site_p.D354_splice	p.D354_splice	NM_004537.4|NM_139207.2	NP_004528.1|NP_631946.1	P55209	NP1L1_HUMAN			12	1544_1546	-		Colorectal(145;0.09)	354			Asp/Glu-rich (acidic).		B3KNT8	Splice_Site	DEL	ENST00000261182.8	37	c.1059_splice	CCDS9013.1																																																																																				0.345	NAP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405850.3	NM_139207	In_Frame_Del	7	130						7	130	---	---	---	---	-	76444312	CAT	-	76444310	8	5	217	1	0	1	0	1	0	0	1	0	10156	492	17	0	131	0	NAP1L1	12	76444310	Splice_Site	DEL	CAT	TCGA-HC-7747-01A-11D-2114-08	19962650	76444310	57407585	45	10015											
ZDHHC17	23390	broad.mit.edu	37	chr12	77222174	77222174	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aacttgtgttttacagatccTttttcgatcattcaatgcat	10	18	5	8	1	2	1	2	0	0	1	4	2	3	1	1	0	3	2	1	0	3	6			TCGA-HC-7747-01A-11D-2114-08	TCGA-HC-7747-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85714546-69c0-468e-b38a-3e0e886d44c7	67cdd8c3-0dbd-4b0d-87c3-49c9e86c24f6	g.chr12:77222174T>C	ENST00000426126.2	+	10	1694	c.1045T>C	c.(1045-1047)Ttt>Ctt	p.F349L	ZDHHC17_ENST00000334822.5_Missense_Mutation_p.F349L	NM_015336.2	NP_056151.2	Q8IUH5	ZDH17_HUMAN	zinc finger, DHHC-type containing 17	349					lipoprotein transport (GO:0042953)|magnesium ion transport (GO:0015693)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|protein palmitoylation (GO:0018345)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi-associated vesicle membrane (GO:0030660)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)	identical protein binding (GO:0042802)|magnesium ion transmembrane transporter activity (GO:0015095)|palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|signal transducer activity (GO:0004871)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|large_intestine(3)|liver(2)|lung(14)	23						TTACAGATCCTTTTTCGATCA	0.308																																						ENST00000426126.2																			0				breast(2)|endometrium(2)|large_intestine(3)|liver(2)|lung(14)	23						c.(1045-1047)Ttt>Ctt		zinc finger, DHHC-type containing 17							228	215	219					12																	77222174		1812	4067	5879	SO:0001583	missense	23390				lipoprotein transport|positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi-associated vesicle membrane|integral to membrane	magnesium ion transmembrane transporter activity|protein binding|protein-cysteine S-palmitoleyltransferase activity|signal transducer activity|zinc ion binding	g.chr12:77222174T>C	AB023163	CCDS44946.1	12q21.2	2013-01-10				ENSG00000186908		"Zinc fingers, DHHC-type", "Ankyrin repeat domain containing"	18412	protein-coding gene	gene with protein product		607799				9700202, 18794299	Standard	NM_015336		Approved	HIP14, HYPH, KIAA0946	uc001syk.1	Q8IUH5	OTTHUMG00000169917	ENST00000426126.2:c.1045T>C	12.37:g.77222174T>C	ENSP00000403397:p.Phe349Leu					ZDHHC17_ENST00000334822.5_Missense_Mutation_p.F349L	p.F349L	NM_015336.2	NP_056151.2	Q8IUH5	ZDH17_HUMAN			10	1694	+			349					B4DR39|O75407|Q7Z2I0|Q86W89|Q86YK0|Q9P088|Q9UPZ8	Missense_Mutation	SNP	ENST00000426126.2	37	c.1045T>C	CCDS44946.1	.	.	.	.	.	.	.	.	.	.	T	10.76	1.440855	0.25900	.	.	ENSG00000186908	ENST00000426126;ENST00000334822	T;T	0.29397	1.57;1.57	5.72	5.72	0.89469	.	0.143078	0.64402	D	0.000004	T	0.15478	0.0373	N	0.05487	-0.04	0.80722	D	1	B	0.06786	0.001	B	0.08055	0.003	T	0.09185	-1.0686	10	0.02654	T	1	-15.0086	16.0023	0.80306	0.0:0.0:0.0:1.0	.	349	Q8IUH5	ZDH17_HUMAN	L	349	ENSP00000403397:F349L;ENSP00000334868:F349L	ENSP00000334868:F349L	F	+	1	0	ZDHHC17	75746305	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	6.255000	0.72466	2.177000	0.69029	0.533000	0.62120	TTT		0.308	ZDHHC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406555.1	NM_015336		3	197	0	0	0	1	0	3	197					C	77222174	T	C	77222174	3	2	217	1	0	0	0	0	1	0	0	0	17604	1609	56	4	1083	4	ZDHHC17	12	77222174	Missense_Mutation	SNP	T	TCGA-HC-7747-01A-11D-2114-08	777864	77222174	56629721	46	10016											
ATP2A2	488	broad.mit.edu	37	chr12	110777198	110777199	+	Frame_Shift_Ins	INS	-	-	G																															aggacatcaatgagcaagatINSgtttgtgaaggcaagtatgg																										TCGA-HC-7747-01A-11D-2114-08	TCGA-HC-7747-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85714546-69c0-468e-b38a-3e0e886d44c7	67cdd8c3-0dbd-4b0d-87c3-49c9e86c24f6	g.chr12:110777198_110777199insG	ENST00000539276.2	+	12	1641_1642	c.1532_1533insG	c.(1531-1536)atgtttfs	p.F512fs	ATP2A2_ENST00000395494.2_Frame_Shift_Ins_p.F485fs|ATP2A2_ENST00000308664.6_Frame_Shift_Ins_p.F512fs			P16615	AT2A2_HUMAN	ATPase, Ca++ transporting, cardiac muscle, slow twitch 2	512					blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cell adhesion (GO:0007155)|cellular calcium ion homeostasis (GO:0006874)|epidermis development (GO:0008544)|ER-nucleus signaling pathway (GO:0006984)|ion transmembrane transport (GO:0034220)|negative regulation of heart contraction (GO:0045822)|positive regulation of heart rate (GO:0010460)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of the force of heart contraction (GO:0002026)|relaxation of cardiac muscle (GO:0055119)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|transport (GO:0006810)	endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|platelet dense tubular network membrane (GO:0031095)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|calcium-transporting ATPase activity involved in regulation of cardiac muscle cell membrane potential (GO:0086039)|enzyme binding (GO:0019899)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)|S100 protein binding (GO:0044548)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	38						ATGAGCAAGATGTTTGTGAAGG	0.381																																						ENST00000395494.2																			0				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	38						c.(1450-1452)attfs		ATPase, Ca++ transporting, cardiac muscle, slow twitch 2																																				SO:0001589	frameshift_variant	488				ATP biosynthetic process|cell adhesion|epidermis development|platelet activation|sarcoplasmic reticulum calcium ion transport	integral to plasma membrane|microsome|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	ATP binding|calcium-transporting ATPase activity|protein C-terminus binding|S100 alpha binding	g.chr12:110777198_110777199insG		CCDS9143.1, CCDS9144.1	12q24.11	2012-10-22			ENSG00000174437	ENSG00000174437	3.6.3.8	"ATPases / P-type"	812	protein-coding gene	gene with protein product	"sarcoplasmic/endoplasmic reticulum calcium ATPase 2", "calcium pump 2"	108740		ATP2B, DAR		10080178	Standard	NM_170665		Approved	SERCA2	uc001tqk.4	P16615	OTTHUMG00000169327	ENST00000539276.2:c.1533dupG	12.37:g.110777199_110777199dupG	ENSP00000440045:p.Phe512fs					ATP2A2_ENST00000539276.2_Frame_Shift_Ins_p.I511fs|ATP2A2_ENST00000308664.6_Frame_Shift_Ins_p.I511fs	p.I484fs			P16615	AT2A2_HUMAN			11	2014_2015	+			511					A6NDN7|B4DF05|P16614|Q86VJ2	Frame_Shift_Ins	INS	ENST00000539276.2	37	c.1451_1452insG	CCDS9144.1																																																																																				0.381	ATP2A2-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000403539.1	NM_001681		18	60						18	60	---	---	---	---	G	110777199	-	G	110777198	7	5	217	1	0	1	1	0	0	0	0	0	1137	1464	51	0	1578	0	ATP2A2	12	110777198	Frame_Shift_Ins	INS	-	TCGA-HC-7747-01A-11D-2114-08	33555024	110777198	23074697	47	10017											
C12orf51	283450	broad.mit.edu	37	chr12	112622883	112622885	+	In_Frame_Del	DEL	GAG	GAG	-																															gggtctgtcctggggaggacGaggaggaggaggacgagtca																										TCGA-HC-7747-01A-11D-2114-08	TCGA-HC-7747-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85714546-69c0-468e-b38a-3e0e886d44c7	67cdd8c3-0dbd-4b0d-87c3-49c9e86c24f6	g.chr12:112622883_112622885delGAG	ENST00000430131.2	-	60	9764_9766	c.8619_8621delCTC	c.(8617-8622)tcctcg>tcg	p.2873_2874SS>S	HECTD4_ENST00000550722.1_In_Frame_Del_p.3149_3150SS>S|HECTD4_ENST00000377560.5_In_Frame_Del_p.3123_3124SS>S			Q9Y4D8	HECD4_HUMAN	HECT domain containing E3 ubiquitin protein ligase 4	2873	Ser-rich.				glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)										TGGGGAGGACGAGGAGGAGGAGG	0.601																																						ENST00000550722.1																			0											c.(9445-9450)tcg>tc		HECT domain containing E3 ubiquitin protein ligase 4				43,3827		0,43,1892						-11.5	0.1			26	91,7885		9,73,3906	no	coding	C12orf51	NM_001109662.2		9,116,5798	A1A1,A1R,RR		1.1409,1.1111,1.1312				134,11712				SO:0001651	inframe_deletion	283450							g.chr12:112622883_112622885delGAG	AK091473		12q24.13	2013-07-17	2012-08-14	2012-08-14	ENSG00000173064	ENSG00000173064			26611	protein-coding gene	gene with protein product			"chromosome 12 open reading frame 51"	C12orf51		21270382	Standard	NM_001109662		Approved	FLJ34154, KIAA0614	uc021reb.1	Q9Y4D8	OTTHUMG00000150719	ENST00000430131.2:c.8619_8621delCTC	12.37:g.112622892_112622894delGAG	ENSP00000404379:p.Ser2876del					HECTD4_ENST00000430131.2_In_Frame_Del_p.SS2875del|HECTD4_ENST00000377560.5_In_Frame_Del_p.SS3125del	p.SS3151del	NM_001109662.3	NP_001103132.3					61	9842_9844	-								L8B0P6|Q3MJD5|Q6P0A0|Q7L530|Q8NB70|Q8WU73|Q96NT9|Q9NZS4|Q9UFT6	In_Frame_Del	DEL	ENST00000430131.2	37	c.9447_9449delCTC																																																																																					0.601	HECTD4-202	KNOWN	basic	protein_coding	protein_coding		NM_173813		3	6						3	6	---	---	---	---	-	112622885	GAG	-	112622883	7	5	217	1	0	1	0	1	0	0	0	0	1696	1059	37	0	3433	0	C12orf51	12	112622883	In_Frame_Del	DEL	GAG	TCGA-HC-7747-01A-11D-2114-08	1845685	112622883	21229012	48	10018											
KSR2	283455	broad.mit.edu	37	chr12	118298123	118298123	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	acctccttgcgcacatcgacGattcggaaccagtgccgtag	9	8	10	14	5	0	0	0	0	0	0	3	3	1	1	4	1	3	2	4	1	2	3	rs55997942	byFrequency	TCGA-HC-7747-01A-11D-2114-08	TCGA-HC-7747-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85714546-69c0-468e-b38a-3e0e886d44c7	67cdd8c3-0dbd-4b0d-87c3-49c9e86c24f6	g.chr12:118298123G>A	ENST00000339824.5	-	2	1021	c.294C>T	c.(292-294)atC>atT	p.I98I	KSR2_ENST00000425217.1_Silent_p.I69I			Q6VAB6	KSR2_HUMAN	kinase suppressor of ras 2	98					intracellular signal transduction (GO:0035556)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GCACATCGACGATTCGGAACC	0.632													G|||	3	0.000599042	0	0.0014	5008	,	,		19481	0.002		0	False		,,,				2504	0					ENST00000425217.1																			0				NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						c.(205-207)atC>atT		kinase suppressor of ras 2							61	65	64					12																	118298123		1568	3582	5150	SO:0001819	synonymous_variant	283455				intracellular signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity	g.chr12:118298123G>A	AY345972	CCDS61250.1	12q24.22-q24.23	2014-08-12			ENSG00000171435	ENSG00000171435			18610	protein-coding gene	gene with protein product		610737				12471243	Standard	NM_173598		Approved	FLJ25965	uc001two.2	Q6VAB6	OTTHUMG00000169020	ENST00000339824.5:c.294C>T	12.37:g.118298123G>A						KSR2_ENST00000339824.5_Silent_p.I98I	p.I69I	NM_173598.4	NP_775869.3	Q6VAB6	KSR2_HUMAN			2	261	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		98					A0PJT2|Q3B828|Q8N775	Silent	SNP	ENST00000339824.5	37	c.207C>T																																																																																					0.632	KSR2-001	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000401987.2	NM_173598		3	48	0	0	0	1	0	3	48					A	118298123	G	A	118298123	2	1	217	1	0	0	0	0	0	0	0	1	8582	1048	37	2		2	KSR2	12	118298123	Silent	SNP	G	TCGA-HC-7747-01A-11D-2114-08	5675240	118298123	15553772	49	10019											
PCNX	22990	broad.mit.edu	37	chr14	71500674	71500674	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agtgcaatccaagatttttcCaaaaacggaagagaaaaatc	19	8	7	7	1	0	2	0	0	0	2	3	4	2	3	2	1	2	1	2	1	7	2			TCGA-HC-7747-01A-11D-2114-08	TCGA-HC-7747-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85714546-69c0-468e-b38a-3e0e886d44c7	67cdd8c3-0dbd-4b0d-87c3-49c9e86c24f6	g.chr14:71500674C>A	ENST00000304743.2	+	18	4141	c.3695C>A	c.(3694-3696)cCa>cAa	p.P1232Q	PCNX_ENST00000439984.3_Missense_Mutation_p.P1121Q|PCNX_ENST00000238570.5_Missense_Mutation_p.P1232Q	NM_014982.2	NP_055797.2	Q96RV3	PCX1_HUMAN	pecanex homolog (Drosophila)	1232						integral component of membrane (GO:0016021)				NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1)	87			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)		AAGATTTTTCCAAAAACGGAA	0.313																																						ENST00000304743.2																			0				NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1)	87						c.(3694-3696)cCa>cAa		pecanex homolog (Drosophila)							45	51	49					14																	71500674		2201	4292	6493	SO:0001583	missense	22990					integral to membrane		g.chr14:71500674C>A	AF233450, AB018348	CCDS9806.1	14q24.2	2014-07-03							19740	protein-coding gene	gene with protein product			"pecanex-like 1 (Drosophila)"	PCNXL1		9244429, 15777640	Standard	NM_014982		Approved	KIAA0995, KIAA0805, pecanex	uc001xmo.2	Q96RV3		ENST00000304743.2:c.3695C>A	14.37:g.71500674C>A	ENSP00000304192:p.Pro1232Gln					PCNX_ENST00000238570.5_Missense_Mutation_p.P1232Q|PCNX_ENST00000439984.3_Missense_Mutation_p.P1121Q	p.P1232Q	NM_014982.2	NP_055797.2	Q96RV3	PCX1_HUMAN	KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)	18	4141	+			1232					B2RTR6|O94897|Q96AI7|Q9Y2J9	Missense_Mutation	SNP	ENST00000304743.2	37	c.3695C>A	CCDS9806.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.5|20.5	3.996590|3.996590	0.74818|0.74818	.|.	.|.	ENSG00000100731|ENSG00000100731	ENST00000304743;ENST00000238570;ENST00000439984|ENST00000554691	T;T;T|.	0.10382|.	3.29;3.27;2.88|.	5.2|5.2	5.2|5.2	0.72013|0.72013	.|.	0.105723|.	0.64402|.	D|.	0.000003|.	T|T	0.74846|0.74846	0.3770|0.3770	M|M	0.69358|0.69358	2.11|2.11	0.80722|0.80722	D|D	1|1	P;D;D|.	0.76494|.	0.835;0.999;0.998|.	P;D;D|.	0.66196|.	0.607;0.942;0.928|.	T|T	0.74016|0.74016	-0.3800|-0.3800	10|5	0.52906|.	T|.	0.07|.	.|.	18.7492|18.7492	0.91807|0.91807	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	1232;1121;1232|.	Q96RV3-3;B2RTR6;Q96RV3|.	.;.;PCX1_HUMAN|.	Q|K	1232;1232;1121|291	ENSP00000304192:P1232Q;ENSP00000238570:P1232Q;ENSP00000396617:P1121Q|.	ENSP00000238570:P1232Q|.	P|Q	+|+	2|1	0|0	PCNX|PCNX	70570427|70570427	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.984000|0.984000	0.73092|0.73092	7.081000|7.081000	0.76844|0.76844	2.420000|2.420000	0.82092|0.82092	0.650000|0.650000	0.86243|0.86243	CCA|CAA		0.313	PCNX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412479.1	NM_014982		3	65	1	0	0.115264	1	0.119533	3	65					A	71500674	C	A	71500674	3	1	217	1	0	0	0	0	1	0	0	0	11591	594	21	5	3765	5	PCNX	14	71500674	Missense_Mutation	SNP	C	TCGA-HC-7747-01A-11D-2114-08		71500674	35848866	50	10020											
DEGS2	51466	broad.mit.edu	37	chr14	100613237	100613237	+	IGR	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cgtagtactcgggcgcgatcTtccgcacctgtagagaggag	8	8	14	11	5	1	1	0	0	1	1	3	4	2	2	2	2	1	4	2	2	3	4			TCGA-HC-7747-01A-11D-2114-08	TCGA-HC-7747-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85714546-69c0-468e-b38a-3e0e886d44c7	67cdd8c3-0dbd-4b0d-87c3-49c9e86c24f6	g.chr14:100613237T>G	ENST00000402714.2	+	0	2353				DEGS2_ENST00000553834.1_Missense_Mutation_p.E30D|DEGS2_ENST00000557117.1_5'Flank|DEGS2_ENST00000305631.5_Missense_Mutation_p.K278T			Q9UI08	EVL_HUMAN	Enah/Vasp-like						actin filament organization (GO:0007015)|actin polymerization or depolymerization (GO:0008154)|axon guidance (GO:0007411)|cell surface receptor signaling pathway (GO:0007166)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of ruffle assembly (GO:1900028)|nervous system development (GO:0007399)|organ morphogenesis (GO:0009887)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of stress fiber assembly (GO:0051496)|protein homotetramerization (GO:0051289)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|membrane (GO:0016020)	profilin binding (GO:0005522)|SH3 domain binding (GO:0017124)			cervix(1)|large_intestine(5)|lung(3)|ovary(3)|urinary_tract(2)	14		Melanoma(154;0.152)				GGGCGCGATCTTCCGCACCTG	0.657																																						ENST00000305631.5																			0				breast(1)|lung(6)|skin(1)	8						c.(832-834)aAg>aCg		delta(4)-desaturase, sphingolipid 2							76	77	77					14																	100613237		2203	4300	6503	SO:0001628	intergenic_variant	123099				fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	sphingosine hydroxylase activity	g.chr14:100613237T>G	AF112209	CCDS9955.1	14q32.2	2014-08-13			ENSG00000196405	ENSG00000196405			20234	protein-coding gene	gene with protein product						10945997, 10993894	Standard	NM_016337		Approved	RNB6	uc001ygu.3	Q9UI08	OTTHUMG00000171530		14.37:g.100613237T>G						DEGS2_ENST00000553834.1_Missense_Mutation_p.E30D	p.K278T	NM_206918.2	NP_996801.2	Q6QHC5	DEGS2_HUMAN			3	1408	-		Melanoma(154;0.212)	278					A8K105|O95884|Q7Z522|Q8TBV1|Q9UF25|Q9UIC2	Missense_Mutation	SNP	ENST00000402714.2	37	c.833A>C		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	20.8|20.8	4.044297|4.044297	0.75732|0.75732	.|.	.|.	ENSG00000168350|ENSG00000168350	ENST00000553834|ENST00000305631	T|T	0.47869|0.18016	0.83|2.24	4.86|4.86	3.68|3.68	0.42216|0.42216	.|Fatty acid desaturase, type 1 (1);	.|0.316615	.|0.36303	.|N	.|0.002674	T|T	0.24160|0.24160	0.0585|0.0585	M|M	0.85710|0.85710	2.77|2.77	0.09310|0.09310	N|N	0.999999|0.999999	.|P	.|0.36354	.|0.549	.|B	.|0.34038	.|0.174	T|T	0.17868|0.17868	-1.0355|-1.0355	6|10	.|0.72032	.|D	.|0.01	-14.7995|-14.7995	11.0019|11.0019	0.47611|0.47611	0.1395:0.0:0.0:0.8605|0.1395:0.0:0.0:0.8605	.|.	.|278	.|Q6QHC5	.|DEGS2_HUMAN	D|T	30|278	ENSP00000450637:E30D|ENSP00000307126:K278T	.|ENSP00000307126:K278T	E|K	-|-	3|2	2|0	DEGS2|DEGS2	99682990|99682990	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.911000|0.911000	0.54048|0.54048	3.236000|3.236000	0.51336|0.51336	0.675000|0.675000	0.31264|0.31264	0.459000|0.459000	0.35465|0.35465	GAA|AAG		0.657	EVL-006	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000413958.1			7	87	0	0	0	1	0	7	87					G	100613237	T	G	100613237	1	3	217	0	1	0	0	0	0	0	0	0	4423	1609	56	5		5	DEGS2	14	100613237	IGR	SNP	T	TCGA-HC-7747-01A-11D-2114-08	29112563	100613237	6736303	51	10021											
SPTBN5	51332	broad.mit.edu	37	chr15	42147470	42147470	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctgggactcggcggtggcCgccttggtggtcagccaggc	3	8	17	13	3	1	0	1	0	0	0	3	1	2	1	4	7	1	0	4	7	0	1	rs374155015		TCGA-HC-7747-01A-11D-2114-08	TCGA-HC-7747-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85714546-69c0-468e-b38a-3e0e886d44c7	67cdd8c3-0dbd-4b0d-87c3-49c9e86c24f6	g.chr15:42147470C>T	ENST00000320955.6	-	55	9602	c.9375G>A	c.(9373-9375)gcG>gcA	p.A3125A		NM_016642.2	NP_057726.4	Q9NRC6	SPTN5_HUMAN	spectrin, beta, non-erythrocytic 5	3125					actin cytoskeleton organization (GO:0030036)|actin filament capping (GO:0051693)|axon guidance (GO:0007411)|Golgi organization (GO:0007030)|lysosomal transport (GO:0007041)|protein homooligomerization (GO:0051260)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|photoreceptor connecting cilium (GO:0032391)|photoreceptor disc membrane (GO:0097381)|spectrin (GO:0008091)	actin binding (GO:0003779)|dynactin binding (GO:0034452)|dynein intermediate chain binding (GO:0045505)|kinesin binding (GO:0019894)|myosin tail binding (GO:0032029)|protein self-association (GO:0043621)|spectrin binding (GO:0030507)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	62		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)		CGGCGGTGGCCGCCTTGGTGG	0.677													C|||	1	0.000199681	0	0	5008	,	,		16441	0.001		0	False		,,,				2504	0					ENST00000320955.6																			0				NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	62						c.(9373-9375)gcG>gcA		spectrin, beta, non-erythrocytic 5		C		1,4035		0,1,2017	20	25	23		9270	3.4	0	15		23	4,8298		0,4,4147	no	coding-synonymous	SPTBN5	NM_016642.2		0,5,6164	TT,TC,CC		0.0482,0.0248,0.0405		3090/3640	42147470	5,12333	2018	4151	6169	SO:0001819	synonymous_variant	51332				actin cytoskeleton organization|actin filament capping|axon guidance	cytosol|membrane|spectrin		g.chr15:42147470C>T	AF233523	CCDS61599.1	15q21	2010-08-17			ENSG00000137877	ENSG00000137877			15680	protein-coding gene	gene with protein product	"beta V spectrin"	605916				10764729	Standard	NM_016642		Approved	HUSPECV, BSPECV, HUBSPECV	uc001zos.4	Q9NRC6		ENST00000320955.6:c.9375G>A	15.37:g.42147470C>T							p.A3125A	NM_016642.2	NP_057726.4	Q9NRC6	SPTN5_HUMAN		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)	55	9602	-		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)	3125						Silent	SNP	ENST00000320955.6	37	c.9375G>A																																																																																					0.677	SPTBN5-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000420237.1	NM_016642		3	44	0	0	0	1	0	3	44					T	42147470	C	T	42147470	2	4	217	1	0	0	0	0	0	0	0	1	15121	639	23	2		2	SPTBN5	15	42147470	Silent	SNP	C	TCGA-HC-7747-01A-11D-2114-08		42147470	60383922	52	10022											
IREB2	3658	broad.mit.edu	37	chr15	78790472	78790472	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	attattaaactttgtggcacGaaaattctcatagtatctac	14	15	5	7	1	2	0	1	0	2	0	3	1	2	0	0	1	2	2	0	1	8	7	rs375120202		TCGA-HC-7747-01A-11D-2114-08	TCGA-HC-7747-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85714546-69c0-468e-b38a-3e0e886d44c7	67cdd8c3-0dbd-4b0d-87c3-49c9e86c24f6	g.chr15:78790472G>A	ENST00000258886.8	+	22	3028	c.2879G>A	c.(2878-2880)cGa>cAa	p.R960Q		NM_004136.2	NP_004127	P48200	IREB2_HUMAN	iron-responsive element binding protein 2	960					aging (GO:0007568)|cellular iron ion homeostasis (GO:0006879)|cellular response to hypoxia (GO:0071456)|erythrocyte homeostasis (GO:0034101)|intestinal absorption (GO:0050892)|iron ion transport (GO:0006826)|osteoclast differentiation (GO:0030316)|post-embryonic development (GO:0009791)|protoporphyrinogen IX biosynthetic process (GO:0006782)|response to iron(II) ion (GO:0010040)|response to retinoic acid (GO:0032526)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)	4 iron, 4 sulfur cluster binding (GO:0051539)|iron-responsive element binding (GO:0030350)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)|translation repressor activity (GO:0030371)			central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	41				UCEC - Uterine corpus endometrioid carcinoma (272;0.232)		TTTGTGGCACGAAAATTCTCA	0.388																																					NSCLC(200;764 2208 35157 49871 50830)	ENST00000258886.8																			0				central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	41						c.(2878-2880)cGa>cAa		iron-responsive element binding protein 2		G	GLN/ARG	0,4392		0,0,2196	122	112	116		2879	6	1	15		116	1,8585	1.2+/-3.3	0,1,4292	no	missense	IREB2	NM_004136.2	43	0,1,6488	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	960/964	78790472	1,12977	2196	4293	6489	SO:0001583	missense	3658						4 iron, 4 sulfur cluster binding|metal ion binding|protein binding	g.chr15:78790472G>A	M58511	CCDS10302.1	15q25.1	2013-09-20			ENSG00000136381	ENSG00000136381			6115	protein-coding gene	gene with protein product		147582				2172968	Standard	NM_004136		Approved	IRP2	uc002bdr.2	P48200	OTTHUMG00000143861	ENST00000258886.8:c.2879G>A	15.37:g.78790472G>A	ENSP00000258886:p.Arg960Gln						p.R960Q	NM_004136.2	NP_004127.1	P48200	IREB2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (272;0.232)	22	3028	+			960					A8KAC7|E1CJT9|H0YKU0|Q13095|Q1HE21|Q59FQ7|Q8WVK6|Q9UF17	Missense_Mutation	SNP	ENST00000258886.8	37	c.2879G>A	CCDS10302.1	.	.	.	.	.	.	.	.	.	.	G	35	5.515356	0.96402	0.0	1.16E-4	ENSG00000136381	ENST00000258886	T	0.23950	1.88	5.98	5.98	0.97165	Aconitase/3-isopropylmalate dehydratase, swivel (1);	0.120552	0.64402	D	0.000019	T	0.53433	0.1796	M	0.69358	2.11	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.50709	-0.8796	10	0.87932	D	0	.	20.452	0.99131	0.0:0.0:1.0:0.0	.	960	P48200	IREB2_HUMAN	Q	960	ENSP00000258886:R960Q	ENSP00000258886:R960Q	R	+	2	0	IREB2	76577527	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.859000	0.86982	2.838000	0.97847	0.591000	0.81541	CGA		0.388	IREB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000290109.3	NM_004136		5	80	0	0	0	1	0	5	80					A	78790472	G	A	78790472	3	1	217	1	0	0	0	0	1	0	0	0	7826	1058	37	2	2965	2	IREB2	15	78790472	Missense_Mutation	SNP	G	TCGA-HC-7747-01A-11D-2114-08	36643002	78790472	23740920	53	10023											
C15orf26	161502	broad.mit.edu	37	chr15	81427611	81427611	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tttgttgattttctgtttagGagctcatgaaagacttctta	9	19	8	5	0	3	3	1	2	2	1	3	4	3	4	0	1	1	3	0	1	3	8			TCGA-HC-7747-01A-11D-2114-08	TCGA-HC-7747-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85714546-69c0-468e-b38a-3e0e886d44c7	67cdd8c3-0dbd-4b0d-87c3-49c9e86c24f6	g.chr15:81427611G>T	ENST00000286732.4	+	2	153	c.70G>T	c.(70-72)Gag>Tag	p.E24*		NM_173528.2	NP_775799.2	Q6P656	CO026_HUMAN	chromosome 15 open reading frame 26	24										endometrium(1)|kidney(4)|large_intestine(5)|lung(6)|skin(1)	17						TTCTGTTTAGGAGCTCATGAA	0.338																																						ENST00000286732.4																			0				endometrium(1)|kidney(4)|large_intestine(5)|lung(6)|skin(1)	17						c.e2-1		chromosome 15 open reading frame 26							65	68	67					15																	81427611		1793	4066	5859	SO:0001630	splice_region_variant	161502							g.chr15:81427611G>T	AK095934	CCDS42068.1	15q25.1	2012-09-10			ENSG00000156206	ENSG00000156206			26782	protein-coding gene	gene with protein product						14702039	Standard	NM_173528		Approved	FLJ38615	uc002bgb.3	Q6P656	OTTHUMG00000172263	ENST00000286732.4:c.70-1G>T	15.37:g.81427611G>T							p.E24_splice	NM_173528.2	NP_775799.2	Q6P656	CO026_HUMAN			2	153	+			24					Q8N906	Splice_Site	SNP	ENST00000286732.4	37	c.69_splice	CCDS42068.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.378427	0.82682	.	.	ENSG00000156206	ENST00000286732	.	.	.	4.94	4.94	0.65067	.	0.115341	0.64402	D	0.000019	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-30.5488	16.9642	0.86281	0.0:0.0:1.0:0.0	.	.	.	.	X	24	.	.	E	+	1	0	C15orf26	79214666	1.000000	0.71417	0.997000	0.53966	0.421000	0.31385	5.393000	0.66279	2.257000	0.74773	0.591000	0.81541	GAG		0.338	C15orf26-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417587.1	NM_173528	Nonsense_Mutation	5	53	1	0	0.000602214	1	0.000656961	5	53					T	81427611	G	T	81427611	5	4	217	1	0	0	0	0	0	0	1	0	1787	1188	41	5	76	5	C15orf26	15	81427611	Splice_Site	SNP	G	TCGA-HC-7747-01A-11D-2114-08	2637139	81427611	21103781	54	10024											
ACAN	176	broad.mit.edu	37	chr15	89398620	89398620	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gcccagcactcctacggttgGtgaactgccctctggagctg	6	9	12	14	1	1	1	0	1	1	0	2	2	2	2	3	3	5	3	3	3	2	2			TCGA-HC-7747-01A-11D-2114-08	TCGA-HC-7747-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85714546-69c0-468e-b38a-3e0e886d44c7	67cdd8c3-0dbd-4b0d-87c3-49c9e86c24f6	g.chr15:89398620G>A	ENST00000561243.1	+	11	2804	c.2804G>A	c.(2803-2805)gGt>gAt	p.G935D	ACAN_ENST00000559004.1_Missense_Mutation_p.G935D|ACAN_ENST00000352105.7_Missense_Mutation_p.G935D|ACAN_ENST00000439576.2_Missense_Mutation_p.G935D			P16112	PGCA_HUMAN	aggrecan	934	CS-1.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)	carbohydrate binding (GO:0030246)|extracellular matrix structural constituent (GO:0005201)|hyaluronic acid binding (GO:0005540)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			CCTACGGTTGGTGAACTGCCC	0.557																																						ENST00000439576.2																			0				NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93						c.(2803-2805)gGt>gAt		aggrecan							53	58	56					15																	89398620		1912	4128	6040	SO:0001583	missense	176				cell adhesion		hyaluronic acid binding|sugar binding	g.chr15:89398620G>A	M55172	CCDS53970.1, CCDS53971.1	15q26.1	2013-05-07	2007-02-16	2007-02-16	ENSG00000157766	ENSG00000157766		"Immunoglobulin superfamily / V-set domain containing", "Proteoglycans / Extracellular Matrix : Hyalectans"	319	protein-coding gene	gene with protein product	"aggrecan proteoglycan"	155760	"chondroitin sulfate proteoglycan 1", "aggrecan 1"	MSK16, CSPG1, AGC1		1985970	Standard	NM_013227		Approved	CSPGCP	uc010upo.1	P16112	OTTHUMG00000171989	ENST00000561243.1:c.2804G>A	15.37:g.89398620G>A	ENSP00000453342:p.Gly935Asp					ACAN_ENST00000559004.1_Missense_Mutation_p.G935D|ACAN_ENST00000352105.7_Missense_Mutation_p.G935D|ACAN_ENST00000561243.1_Missense_Mutation_p.G935D	p.G935D	NM_013227.3	NP_037359.3	E7EX88	E7EX88_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.146)		12	3178	+	Lung NSC(78;0.0392)|all_lung(78;0.077)		935					Q13650|Q9UCD3|Q9UCP4|Q9UCP5|Q9UDE0	Missense_Mutation	SNP	ENST00000561243.1	37	c.2804G>A	CCDS53970.1	.	.	.	.	.	.	.	.	.	.	G	2.090	-0.408729	0.04799	.	.	ENSG00000157766	ENST00000439576;ENST00000352105;ENST00000268134	D;D	0.94828	-3.53;-3.53	4.49	0.384	0.16244	.	.	.	.	.	D	0.85141	0.5629	N	0.14661	0.345	0.09310	N	1	B;B	0.20887	0.049;0.049	B;B	0.25614	0.042;0.062	T	0.72023	-0.4415	9	0.16420	T	0.52	-1.3272	3.5856	0.07970	0.4144:0.0:0.4014:0.1841	.	935;935	E7ENV9;E7EX88	.;.	D	935	ENSP00000387356:G935D;ENSP00000341615:G935D	ENSP00000268134:G935D	G	+	2	0	ACAN	87199624	0.000000	0.05858	0.001000	0.08648	0.042000	0.13812	0.077000	0.14738	-0.022000	0.13986	0.563000	0.77884	GGT		0.557	ACAN-006	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416267.2	NM_001135		4	34	0	0	0	1	0	4	34					A	89398620	G	A	89398620	3	1	217	1	0	0	0	0	1	0	0	0	117	1261	44	3	2846	3	ACAN	15	89398620	Missense_Mutation	SNP	G	TCGA-HC-7747-01A-11D-2114-08	7971009	89398620	13132772	55	10025											
HS3ST2	9956	broad.mit.edu	37	chr16	22926769	22926769	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cgatgcttgggcaaatcaaaAgggagaactcatgtacagat	15	8	11	7	1	2	2	2	0	0	2	2	4	2	2	0	2	3	3	0	2	5	2			TCGA-HC-7747-01A-11D-2114-08	TCGA-HC-7747-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85714546-69c0-468e-b38a-3e0e886d44c7	67cdd8c3-0dbd-4b0d-87c3-49c9e86c24f6	g.chr16:22926769A>G	ENST00000261374.3	+	2	1424	c.990A>G	c.(988-990)aaA>aaG	p.K330K		NM_006043.1	NP_006034.1	Q9Y278	HS3S2_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 2	330					carbohydrate metabolic process (GO:0005975)|circadian rhythm (GO:0007623)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine 3-sulfotransferase 2 activity (GO:0033871)|sulfotransferase activity (GO:0008146)			breast(2)|kidney(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|pancreas(2)|skin(1)	19				GBM - Glioblastoma multiforme(48;0.0299)		GCAAATCAAAAGGGAGAACTC	0.418																																						ENST00000261374.3																			0				breast(2)|kidney(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|pancreas(2)|skin(1)	19						c.(988-990)aaA>aaG		heparan sulfate (glucosamine) 3-O-sulfotransferase 2							141	155	150					16																	22926769		2197	4300	6497	SO:0001819	synonymous_variant	9956					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 2 activity	g.chr16:22926769A>G	AF105374	CCDS10606.1	16p12	2008-02-05			ENSG00000122254	ENSG00000122254	2.8.2.23	"Sulfotransferases, membrane-bound"	5195	protein-coding gene	gene with protein product		604056				9988767	Standard	NM_006043		Approved	3OST2	uc002dli.3	Q9Y278	OTTHUMG00000094785	ENST00000261374.3:c.990A>G	16.37:g.22926769A>G							p.K330K	NM_006043.1	NP_006034.1	Q9Y278	HS3S2_HUMAN		GBM - Glioblastoma multiforme(48;0.0299)	2	1424	+			330					Q52LZ1	Silent	SNP	ENST00000261374.3	37	c.990A>G	CCDS10606.1	.	.	.	.	.	.	.	.	.	.	A	8.192	0.796126	0.16327	.	.	ENSG00000122254	ENST00000540146	.	.	.	5.2	1.73	0.24493	.	.	.	.	.	T	0.28599	0.0708	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.16247	-1.0409	5	0.02654	T	1	.	8.3589	0.32346	0.5606:0.0:0.4394:0.0	.	.	.	.	G	338	.	ENSP00000437678:R338G	R	+	1	2	HS3ST2	22834270	1.000000	0.71417	0.970000	0.41538	0.969000	0.65631	0.892000	0.28322	0.022000	0.15160	-0.379000	0.06801	AGG		0.418	HS3ST2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211598.1	NM_006043		4	201	0	0	0	1	0	4	201					G	22926769	A	G	22926769	2	3	217	1	0	0	0	0	0	0	0	1	7364	69	3	4		4	HS3ST2	16	22926769	Silent	SNP	A	TCGA-HC-7747-01A-11D-2114-08		22926769	67427984	56	10026											
OGFOD1	55239	broad.mit.edu	37	chr16	56485625	56485625	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ggacgctgttacggaagaaaCcttgaaaaagcaggtggctg	13	7	14	7	2	0	2	0	1	0	1	0	4	0	4	1	4	3	4	1	4	5	2	rs565164115	byFrequency	TCGA-HC-7747-01A-11D-2114-08	TCGA-HC-7747-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85714546-69c0-468e-b38a-3e0e886d44c7	67cdd8c3-0dbd-4b0d-87c3-49c9e86c24f6	g.chr16:56485625C>A	ENST00000566157.1	+	1	224	c.101C>A	c.(100-102)aCc>aAc	p.T34N	NUDT21_ENST00000300291.5_5'Flank|OGFOD1_ENST00000568397.1_Missense_Mutation_p.T34N	NM_018233.3	NP_060703.3	Q8N543	OGFD1_HUMAN	2-oxoglutarate and iron-dependent oxygenase domain containing 1	34					cell proliferation (GO:0008283)|peptidyl-proline hydroxylation (GO:0019511)|protein hydroxylation (GO:0018126)|regulation of translational termination (GO:0006449)|stress granule assembly (GO:0034063)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|nucleus (GO:0005634)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|peptidyl-proline 3-dioxygenase activity (GO:0031544)|peptidyl-proline dioxygenase activity (GO:0031543)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	8					Vitamin C(DB00126)	ACGGAAGAAACCTTGAAAAAG	0.622													C|||	7	0.00139776	0	0	5008	,	,		16130	0.004		0	False		,,,				2504	0.0031					ENST00000566157.1																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	8						c.(100-102)aCc>aAc		2-oxoglutarate and iron-dependent oxygenase domain containing 1	Vitamin C(DB00126)						51	57	55					16																	56485625		2198	4300	6498	SO:0001583	missense	55239						iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr16:56485625C>A	BC032919	CCDS10761.2	16q12.2	2010-11-23			ENSG00000087263	ENSG00000087263			25585	protein-coding gene	gene with protein product	"TPA1, termination and polyadenylation 1, homolog (S. cerevisiae)"	615857				10997877	Standard	NM_018233		Approved	KIAA1612, FLJ10826, TPA1	uc002ejb.3	Q8N543	OTTHUMG00000133237	ENST00000566157.1:c.101C>A	16.37:g.56485625C>A	ENSP00000457258:p.Thr34Asn					OGFOD1_ENST00000568397.1_Missense_Mutation_p.T34N	p.T34N	NM_018233.3	NP_060703.3	Q8N543	OGFD1_HUMAN			1	224	+			34					H3BUQ2|Q9H7U5|Q9H9J9|Q9HA87|Q9HCG0|Q9NVB6	Missense_Mutation	SNP	ENST00000566157.1	37	c.101C>A	CCDS10761.2	.	.	.	.	.	.	.	.	.	.	C	11.55	1.670701	0.29693	.	.	ENSG00000087263	ENST00000336111	.	.	.	5.8	0.0252	0.14144	.	0.798993	0.11903	N	0.518393	T	0.28599	0.0708	L	0.43152	1.355	0.09310	N	1	B	0.21905	0.062	B	0.18263	0.021	T	0.23297	-1.0192	9	0.20519	T	0.43	-10.7747	5.3882	0.16229	0.0:0.5262:0.133:0.3408	.	34	Q8N543	OGFD1_HUMAN	N	34	.	ENSP00000337196:T34N	T	+	2	0	OGFOD1	55043126	0.002000	0.14202	0.058000	0.19502	0.982000	0.71751	0.448000	0.21726	0.026000	0.15269	0.563000	0.77884	ACC		0.622	OGFOD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256976.3	NM_018233		11	51	1	0	6.40141e-05	1	7.26647e-05	11	51					A	56485625	C	A	56485625	3	1	217	1	0	0	0	0	1	0	0	0	10841	507	18	5	103	5	OGFOD1	16	56485625	Missense_Mutation	SNP	C	TCGA-HC-7747-01A-11D-2114-08	33558856	56485625	33869128	57	10027											
NLRC5	84166	broad.mit.edu	37	chr16	57088675	57088675	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cttttcaggctgagccagacGggactgtccccgaaaagccc	9	7	11	14	2	1	2	1	1	0	1	2	4	2	3	4	2	2	1	4	2	2	2	rs148506460		TCGA-HC-7747-01A-11D-2114-08	TCGA-HC-7747-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85714546-69c0-468e-b38a-3e0e886d44c7	67cdd8c3-0dbd-4b0d-87c3-49c9e86c24f6	g.chr16:57088675G>A	ENST00000262510.6	+	25	3744	c.3519G>A	c.(3517-3519)acG>acA	p.T1173T	RP11-322D14.2_ENST00000562970.1_RNA|NLRC5_ENST00000308149.7_Silent_p.T1173T|NLRC5_ENST00000539144.1_Silent_p.T1173T|NLRC5_ENST00000436936.1_Silent_p.T1173T	NM_032206.4	NP_115582.4	Q86WI3	NLRC5_HUMAN	NLR family, CARD domain containing 5	1173					defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of type I interferon production (GO:0032480)|negative regulation of type I interferon-mediated signaling pathway (GO:0060339)|positive regulation of interferon-gamma-mediated signaling pathway (GO:0060335)|positive regulation of MHC class I biosynthetic process (GO:0045345)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340)|regulation of kinase activity (GO:0043549)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)			NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	75		all_neural(199;0.225)				TGAGCCAGACGGGACTGTCCC	0.592																																						ENST00000436936.1																			0				NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	75						c.(3517-3519)acG>acA		NLR family, CARD domain containing 5		G		1,4395	2.1+/-5.4	0,1,2197	195	204	201		3519	-9.8	0	16	dbSNP_134	201	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	NLRC5	NM_032206.3		0,2,6496	AA,AG,GG		0.0116,0.0227,0.0154		1173/1867	57088675	2,12994	2198	4300	6498	SO:0001819	synonymous_variant	84166				defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|regulation of kinase activity	cytosol|nucleus	ATP binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding	g.chr16:57088675G>A	AF389420	CCDS10773.1	16q13	2008-02-05			ENSG00000140853	ENSG00000140853		"Nucleotide-binding domain and leucine rich repeat containing"	29933	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 5", "NOD-like receptor C5"	613537				12615073	Standard	NM_032206		Approved	NOD27, CLR16.1, FLJ21709	uc021tiu.1	Q86WI3	OTTHUMG00000133470	ENST00000262510.6:c.3519G>A	16.37:g.57088675G>A						RP11-322D14.2_ENST00000562970.1_RNA|NLRC5_ENST00000308149.7_Silent_p.T1173T|NLRC5_ENST00000539144.1_Silent_p.T1173T|NLRC5_ENST00000262510.6_Silent_p.T1173T	p.T1173T			Q86WI3	NLRC5_HUMAN			25	3744	+		all_neural(199;0.225)	1173					B5MEF1|C9JMD8|Q6P4A6|Q86VM7|Q8NF42|Q8TEE2|Q8TEJ1|Q969L7	Silent	SNP	ENST00000262510.6	37	c.3519G>A	CCDS10773.1	.	.	.	.	.	.	.	.	.	.	G	3.387	-0.125202	0.06795	2.27E-4	1.16E-4	ENSG00000140853	ENST00000538805	.	.	.	4.88	-9.77	0.00500	.	.	.	.	.	T	0.16214	0.0390	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.10474	-1.0628	4	.	.	.	.	3.2921	0.06953	0.5325:0.181:0.1144:0.1721	.	.	.	.	R	926	.	.	G	+	1	0	NLRC5	55646176	0.000000	0.05858	0.000000	0.03702	0.022000	0.10575	-2.067000	0.01383	-2.711000	0.00393	-0.252000	0.11476	GGG		0.592	NLRC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257346.1	NM_032206		5	410	0	0	0	1	0	5	410					A	57088675	G	A	57088675	2	1	217	1	0	0	0	0	0	0	0	1	10470	1103	39	2		2	NLRC5	16	57088675	Silent	SNP	G	TCGA-HC-7747-01A-11D-2114-08	603050	57088675	33266078	58	10028											
GINS3	64785	broad.mit.edu	37	chr16	58437218	58437218	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcccgagaatgcagacattTcccagtctctgctgcaggca	9	9	10	13	1	1	2	0	0	1	2	4	3	3	2	2	1	3	4	2	1	1	1			TCGA-HC-7747-01A-11D-2114-08	TCGA-HC-7747-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85714546-69c0-468e-b38a-3e0e886d44c7	67cdd8c3-0dbd-4b0d-87c3-49c9e86c24f6	g.chr16:58437218T>C	ENST00000318129.5	+	2	611	c.403T>C	c.(403-405)Tcc>Ccc	p.S135P	GINS3_ENST00000328514.7_Intron|GINS3_ENST00000426538.2_Missense_Mutation_p.S174P	NM_022770.3	NP_073607.2	Q9BRX5	PSF3_HUMAN	GINS complex subunit 3 (Psf3 homolog)	135					DNA replication (GO:0006260)	nucleus (GO:0005634)				NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|skin(1)	7						TGCAGACATTTCCCAGTCTCT	0.517																																						ENST00000318129.5																			0				NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|skin(1)	7						c.(403-405)Tcc>Ccc		GINS complex subunit 3 (Psf3 homolog)							53	46	48					16																	58437218		2198	4300	6498	SO:0001583	missense	64785				DNA replication	nucleus		g.chr16:58437218T>C	BC005879	CCDS10796.1, CCDS45498.1, CCDS45499.1	16q21	2008-02-05			ENSG00000181938	ENSG00000181938			25851	protein-coding gene	gene with protein product		610610				12477932	Standard	NM_022770		Approved	FLJ13912, PSF3	uc010cdj.3	Q9BRX5	OTTHUMG00000133486	ENST00000318129.5:c.403T>C	16.37:g.58437218T>C	ENSP00000318196:p.Ser135Pro					GINS3_ENST00000426538.2_Missense_Mutation_p.S174P|GINS3_ENST00000328514.7_Intron	p.S135P	NM_022770.3	NP_073607.2	Q9BRX5	PSF3_HUMAN			2	611	+			135					B2RDP3|E9PB21|Q9H870	Missense_Mutation	SNP	ENST00000318129.5	37	c.403T>C	CCDS10796.1	.	.	.	.	.	.	.	.	.	.	T	22.3	4.269742	0.80469	.	.	ENSG00000181938	ENST00000426538;ENST00000318129	T;T	0.15372	2.43;2.43	5.86	5.86	0.93980	.	0.098090	0.64402	D	0.000002	T	0.25644	0.0624	L	0.33485	1.01	0.47276	D	0.999377	D;P	0.54601	0.967;0.948	P;P	0.58266	0.836;0.634	T	0.00961	-1.1499	10	0.59425	D	0.04	-4.0006	11.3464	0.49563	0.0:0.0:0.2484:0.7516	.	174;135	E9PB21;Q9BRX5	.;PSF3_HUMAN	P	174;135	ENSP00000401018:S174P;ENSP00000318196:S135P	ENSP00000318196:S135P	S	+	1	0	GINS3	56994719	1.000000	0.71417	0.996000	0.52242	0.986000	0.74619	6.475000	0.73582	2.367000	0.80283	0.528000	0.53228	TCC		0.517	GINS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257384.2	NM_022770		11	29	0	0	0	1	0	11	29					C	58437218	T	C	58437218	3	2	217	1	0	0	0	0	1	0	0	0	6389	1783	62	4	530	4	GINS3	16	58437218	Missense_Mutation	SNP	T	TCGA-HC-7747-01A-11D-2114-08	1348543	58437218	31917535	59	10029											
CDH11	1009	broad.mit.edu	37	chr16	64984879	64984879	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtacaagtcctgcttctgcCgactgaaccctccacgccgg	7	8	10	16	3	1	1	0	1	1	0	3	2	3	1	5	2	4	2	5	2	3	2			TCGA-HC-7747-01A-11D-2114-08	TCGA-HC-7747-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85714546-69c0-468e-b38a-3e0e886d44c7	67cdd8c3-0dbd-4b0d-87c3-49c9e86c24f6	g.chr16:64984879C>T	ENST00000268603.4	-	12	2300	c.1685G>A	c.(1684-1686)cGg>cAg	p.R562Q	CDH11_ENST00000566827.1_Missense_Mutation_p.R436Q|CDH11_ENST00000394156.3_Missense_Mutation_p.R562Q	NM_001797.2	NP_001788.2	P55287	CAD11_HUMAN	cadherin 11, type 2, OB-cadherin (osteoblast)	562	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|corticospinal tract morphogenesis (GO:0021957)|homophilic cell adhesion (GO:0007156)|ossification (GO:0001503)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(19)|lung(40)|ovary(3)|prostate(3)|skin(2)|urinary_tract(2)	88		Ovarian(137;0.0973)		OV - Ovarian serous cystadenocarcinoma(108;0.205)		CTGCTTCTGCCGACTGAACCC	0.597			T	USP6	aneurysmal bone cysts					TSP Lung(24;0.17)																												ENST00000394156.3				Dom	yes		16	16q22.1	1009	T	"cadherin 11, type 2, OB-cadherin (osteoblast)"			M	USP6		aneurysmal bone cysts		0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(19)|lung(40)|ovary(3)|prostate(3)|skin(2)|urinary_tract(2)	88						c.(1684-1686)cGg>cAg		cadherin 11, type 2, OB-cadherin (osteoblast)							73	67	69					16																	64984879		2203	4300	6503	SO:0001583	missense	1009				adherens junction organization|cell junction assembly|homophilic cell adhesion|ossification|skeletal system development	integral to membrane|plasma membrane	calcium ion binding|protein binding	g.chr16:64984879C>T	D21255	CCDS10803.1	16q21	2010-01-26			ENSG00000140937	ENSG00000140937		"Cadherins / Major cadherins"	1750	protein-coding gene	gene with protein product	"OB-Cadherin"	600023				9615235	Standard	NM_001797		Approved	OB, CAD11	uc002eoi.3	P55287	OTTHUMG00000137494	ENST00000268603.4:c.1685G>A	16.37:g.64984879C>T	ENSP00000268603:p.Arg562Gln	TSP Lung(24;0.17)				CDH11_ENST00000268603.4_Missense_Mutation_p.R562Q|CDH11_ENST00000566827.1_Missense_Mutation_p.R436Q	p.R562Q			P55287	CAD11_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.205)	12	2138	-		Ovarian(137;0.0973)	562			Cadherin 5.		A8K5D6|A8MZC8|B7WP28|Q15065|Q15066|Q9UQ93|Q9UQ94	Missense_Mutation	SNP	ENST00000268603.4	37	c.1685G>A	CCDS10803.1	.	.	.	.	.	.	.	.	.	.	C	36	5.802397	0.96960	.	.	ENSG00000140937	ENST00000268603;ENST00000394156;ENST00000538390	T;T	0.65732	1.69;-0.17	5.55	5.55	0.83447	Cadherin (3);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.78984	0.4370	M	0.71206	2.165	0.80722	D	1	D;P	0.89917	1.0;0.888	D;B	0.83275	0.996;0.271	T	0.78033	-0.2362	10	0.44086	T	0.13	.	18.497	0.90869	0.0:1.0:0.0:0.0	.	562;562	P55287-2;P55287	.;CAD11_HUMAN	Q	562;562;545	ENSP00000268603:R562Q;ENSP00000377711:R562Q	ENSP00000268603:R562Q	R	-	2	0	CDH11	63542380	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	5.899000	0.69846	2.594000	0.87642	0.655000	0.94253	CGG		0.597	CDH11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268755.1	NM_033664		4	54	0	0	0	1	0	4	54					T	64984879	C	T	64984879	3	4	217	1	0	0	0	0	1	0	0	0	3097	652	23	2	713	2	CDH11	16	64984879	Missense_Mutation	SNP	C	TCGA-HC-7747-01A-11D-2114-08	6547661	64984879	25369874	60	10030											
MYO15A	51168	broad.mit.edu	37	chr17	18023207	18023207	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcccataccacactccctacGatgtaccctactttgatccc	9	11	3	18	1	0	1	0	1	0	0	3	2	3	1	5	0	4	1	5	0	4	5			TCGA-HC-7747-01A-11D-2114-08	TCGA-HC-7747-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85714546-69c0-468e-b38a-3e0e886d44c7	67cdd8c3-0dbd-4b0d-87c3-49c9e86c24f6	g.chr17:18023207G>A	ENST00000205890.5	+	2	1431	c.1093G>A	c.(1093-1095)Gat>Aat	p.D365N		NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	365					inner ear morphogenesis (GO:0042472)|locomotory behavior (GO:0007626)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|stereocilium (GO:0032420)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					CACTCCCTACGATGTACCCTA	0.617																																						ENST00000205890.5																			0				breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99						c.(1093-1095)Gat>Aat		myosin XVA							101	109	107					17																	18023207		2018	4177	6195	SO:0001583	missense	51168				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity	g.chr17:18023207G>A	AF144094	CCDS42271.1	17p11.2	2011-09-27			ENSG00000091536	ENSG00000091536		"Myosins / Myosin superfamily : Class XV"	7594	protein-coding gene	gene with protein product		602666		DFNB3, MYO15		9603736	Standard	NM_016239		Approved		uc021trl.1	Q9UKN7	OTTHUMG00000059390	ENST00000205890.5:c.1093G>A	17.37:g.18023207G>A	ENSP00000205890:p.Asp365Asn						p.D365N	NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN			2	1431	+	all_neural(463;0.228)		365			Myosin head-like.		B4DFC7	Missense_Mutation	SNP	ENST00000205890.5	37	c.1093G>A	CCDS42271.1	.	.	.	.	.	.	.	.	.	.	G	10.05	1.244010	0.22796	.	.	ENSG00000091536	ENST00000205890	D	0.89617	-2.54	3.16	-0.167	0.13347	.	.	.	.	.	T	0.72260	0.3438	N	0.14661	0.345	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.57323	-0.7831	9	0.06236	T	0.91	.	4.3695	0.11241	0.2377:0.4205:0.3418:0.0	.	365	Q9UKN7	MYO15_HUMAN	N	365	ENSP00000205890:D365N	ENSP00000205890:D365N	D	+	1	0	MYO15A	17963932	0.905000	0.30787	0.003000	0.11579	0.124000	0.20399	-0.438000	0.06905	0.032000	0.15435	0.561000	0.74099	GAT		0.617	MYO15A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132048.1	NM_016239		6	175	0	0	0	1	0	6	175					A	18023207	G	A	18023207	3	1	217	1	0	0	0	0	1	0	0	0	10063	1058	37	2	1095	2	MYO15A	17	18023207	Missense_Mutation	SNP	G	TCGA-HC-7747-01A-11D-2114-08		18023207	63172003	61	10031											
TOP2A	7153	broad.mit.edu	37	chr17	38567942	38567942	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aagctaatttgctgaaagccTttttcactcatagttaaaca	14	14	5	8	0	2	1	2	1	0	0	2	1	2	1	1	0	4	3	1	0	6	6			TCGA-HC-7747-01A-11D-2114-08	TCGA-HC-7747-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85714546-69c0-468e-b38a-3e0e886d44c7	67cdd8c3-0dbd-4b0d-87c3-49c9e86c24f6	g.chr17:38567942T>C	ENST00000423485.1	-	8	1076	c.918A>G	c.(916-918)aaA>aaG	p.K306K		NM_001067.3	NP_001058.2	P11388	TOP2A_HUMAN	topoisomerase (DNA) II alpha 170kDa	306					apoptotic chromosome condensation (GO:0030263)|ATP catabolic process (GO:0006200)|cellular response to DNA damage stimulus (GO:0006974)|chromosome segregation (GO:0007059)|DNA ligation (GO:0006266)|DNA topological change (GO:0006265)|DNA unwinding involved in DNA replication (GO:0006268)|embryonic cleavage (GO:0040016)|hematopoietic progenitor cell differentiation (GO:0002244)|mitotic cell cycle (GO:0000278)|mitotic DNA integrity checkpoint (GO:0044774)|mitotic recombination (GO:0006312)|positive regulation of apoptotic process (GO:0043065)|positive regulation of single stranded viral RNA replication via double stranded DNA intermediate (GO:0045870)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of viral genome replication (GO:0045070)|resolution of meiotic recombination intermediates (GO:0000712)|sister chromatid segregation (GO:0000819)	condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|DNA topoisomerase complex (ATP-hydrolyzing) (GO:0009330)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA binding, bending (GO:0008301)|DNA topoisomerase type II (ATP-hydrolyzing) activity (GO:0003918)|DNA-dependent ATPase activity (GO:0008094)|drug binding (GO:0008144)|enzyme binding (GO:0019899)|histone deacetylase binding (GO:0042826)|magnesium ion binding (GO:0000287)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase C binding (GO:0005080)|ubiquitin binding (GO:0043130)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(9)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	39		Breast(137;0.00328)	STAD - Stomach adenocarcinoma(5;0.00183)		Amsacrine(DB00276)|Ciprofloxacin(DB00537)|Dactinomycin(DB00970)|Daunorubicin(DB00694)|Dexrazoxane(DB00380)|Doxorubicin(DB00997)|Enoxacin(DB00467)|Epirubicin(DB00445)|Etoposide(DB00773)|Fleroxacin(DB04576)|Idarubicin(DB01177)|Levofloxacin(DB01137)|Lomefloxacin(DB00978)|Lucanthone(DB04967)|Mitoxantrone(DB01204)|Moxifloxacin(DB00218)|Norfloxacin(DB01059)|Ofloxacin(DB01165)|Pefloxacin(DB00487)|Podofilox(DB01179)|Sparfloxacin(DB01208)|Teniposide(DB00444)|Trovafloxacin(DB00685)|Valrubicin(DB00385)	GCTGAAAGCCTTTTTCACTCA	0.318																																						ENST00000423485.1																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(9)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	39						c.(916-918)aaA>aaG		topoisomerase (DNA) II alpha 170kDa	Amsacrine(DB00276)|Ciprofloxacin(DB00537)|Dexrazoxane(DB00380)|Doxorubicin(DB00997)|Enoxacin(DB00467)|Epirubicin(DB00445)|Etoposide(DB00773)|Fleroxacin(DB04576)|Gatifloxacin(DB01044)|Idarubicin(DB01177)|Levofloxacin(DB01137)|Lomefloxacin(DB00978)|Lucanthone(DB04967)|Mitoxantrone(DB01204)|Moxifloxacin(DB00218)|Norfloxacin(DB01059)|Ofloxacin(DB01165)|Pefloxacin(DB00487)|Podofilox(DB01179)|Sparfloxacin(DB01208)|Teniposide(DB00444)|Trovafloxacin(DB00685)|Valrubicin(DB00385)						117	108	111					17																	38567942		1845	4088	5933	SO:0001819	synonymous_variant	7153				apoptotic chromosome condensation|DNA ligation|DNA repair|DNA topological change|DNA-dependent DNA replication|mitotic cell cycle G2/M transition decatenation checkpoint|mitotic recombination|phosphatidylinositol-mediated signaling|positive regulation of apoptosis|positive regulation of retroviral genome replication|resolution of meiotic recombination intermediates|sister chromatid segregation	cytoplasm|DNA topoisomerase complex (ATP-hydrolyzing)|nucleolus|nucleoplasm|synaptonemal complex	ATP binding|chromatin binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA-dependent ATPase activity|drug binding|histone deacetylase binding|protein C-terminus binding|protein heterodimerization activity|protein homodimerization activity|protein kinase C binding|sequence-specific DNA binding transcription factor activity|ubiquitin binding	g.chr17:38567942T>C		CCDS45672.1	17q21-q22	2008-08-06	2002-08-29		ENSG00000131747	ENSG00000131747	5.99.1.2		11989	protein-coding gene	gene with protein product		126430	"topoisomerase (DNA) II alpha (170kD)"	TOP2			Standard	NM_001067		Approved		uc002huq.3	P11388	OTTHUMG00000155008	ENST00000423485.1:c.918A>G	17.37:g.38567942T>C							p.K306K	NM_001067.3	NP_001058.2	P11388	TOP2A_HUMAN	STAD - Stomach adenocarcinoma(5;0.00183)		8	1076	-		Breast(137;0.00328)	306					B2RTS1|Q71UN1|Q71UQ5|Q9HB24|Q9HB25|Q9HB26|Q9UP44|Q9UQP9	Silent	SNP	ENST00000423485.1	37	c.918A>G	CCDS45672.1																																																																																				0.318	TOP2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338035.1			3	77	0	0	0	1	0	3	77					C	38567942	T	C	38567942	2	2	217	1	0	0	0	0	0	0	0	1	16362	1606	56	4		4	TOP2A	17	38567942	Silent	SNP	T	TCGA-HC-7747-01A-11D-2114-08	20544735	38567942	42627268	62	10032											
MRPS23	51649	broad.mit.edu	37	chr17	55917219	55917219	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtggaacttctttctgagtCtcgttttcttccaacgcagt	6	17	8	10	2	4	1	0	1	4	0	6	2	5	2	1	1	2	2	1	1	2	5			TCGA-HC-7747-01A-11D-2114-08	TCGA-HC-7747-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85714546-69c0-468e-b38a-3e0e886d44c7	67cdd8c3-0dbd-4b0d-87c3-49c9e86c24f6	g.chr17:55917219C>A	ENST00000313608.8	-	5	543	c.498G>T	c.(496-498)gaG>gaT	p.E166D		NM_016070.3	NP_057154.2	Q9Y3D9	RT23_HUMAN	mitochondrial ribosomal protein S23	166					translation (GO:0006412)	intermediate filament cytoskeleton (GO:0045111)|mitochondrion (GO:0005739)|nuclear membrane (GO:0031965)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			endometrium(2)|large_intestine(1)|lung(2)	5	Breast(9;8.75e-08)					CTTTCTGAGTCTCGTTTTCTT	0.488																																						ENST00000313608.8																			0				endometrium(2)|large_intestine(1)|lung(2)	5						c.(496-498)gaG>gaT		mitochondrial ribosomal protein S23							186	151	163					17																	55917219		2203	4300	6503	SO:0001583	missense	51649				translation	intermediate filament cytoskeleton|mitochondrion|nuclear membrane|ribosome	structural constituent of ribosome	g.chr17:55917219C>A	AB061206	CCDS11598.1	17q22-q23	2012-09-13				ENSG00000181610		"Mitochondrial ribosomal proteins / small subunits"	14509	protein-coding gene	gene with protein product		611985				11279123	Standard	NM_016070		Approved	MRP-S23, CGI-138, HSPC329	uc002ivc.3	Q9Y3D9		ENST00000313608.8:c.498G>T	17.37:g.55917219C>A	ENSP00000320184:p.Glu166Asp						p.E166D	NM_016070.3	NP_057154.2	Q9Y3D9	RT23_HUMAN			5	543	-	Breast(9;8.75e-08)		166					B2R6V3|Q96Q24|Q9BWH8|Q9P053	Missense_Mutation	SNP	ENST00000313608.8	37	c.498G>T	CCDS11598.1	.	.	.	.	.	.	.	.	.	.	C	12.89	2.074052	0.36566	.	.	ENSG00000181610	ENST00000313608	.	.	.	5.87	3.85	0.44370	.	0.227419	0.46442	N	0.000283	T	0.16981	0.0408	N	0.08118	0	0.09310	N	0.99999	B	0.02656	0.0	B	0.01281	0.0	T	0.16541	-1.0399	9	0.20519	T	0.43	.	8.8624	0.35265	0.0:0.7696:0.1486:0.0819	.	166	Q9Y3D9	RT23_HUMAN	D	166	.	ENSP00000320184:E166D	E	-	3	2	MRPS23	53272218	0.004000	0.15560	0.034000	0.17996	0.016000	0.09150	0.877000	0.28106	1.463000	0.47967	0.655000	0.94253	GAG		0.488	MRPS23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443301.1	NM_016070		5	74	1	0	0.000602214	1	0.000656961	5	74					A	55917219	C	A	55917219	3	1	217	1	0	0	0	0	1	0	0	0	9834	912	32	5	78	5	MRPS23	17	55917219	Missense_Mutation	SNP	C	TCGA-HC-7747-01A-11D-2114-08	17349277	55917219	25277991	63	10033											
ESCO1	114799	broad.mit.edu	37	chr18	19153550	19153550	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tggtggtgaaaaactggttcGtaataagcctaatttagggg	12	12	13	4	1	0	1	0	1	0	0	1	1	0	1	1	5	2	2	1	5	6	6			TCGA-HC-7747-01A-11D-2114-08	TCGA-HC-7747-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85714546-69c0-468e-b38a-3e0e886d44c7	67cdd8c3-0dbd-4b0d-87c3-49c9e86c24f6	g.chr18:19153550G>A	ENST00000269214.5	-	4	2192	c.1255C>T	c.(1255-1257)Cga>Tga	p.R419*		NM_052911.2	NP_443143.2	Q5FWF5	ESCO1_HUMAN	establishment of sister chromatid cohesion N-acetyltransferase 1	419					mitotic cell cycle (GO:0000278)|post-translational protein acetylation (GO:0034421)|regulation of DNA replication (GO:0006275)|sister chromatid cohesion (GO:0007062)	chromatin (GO:0000785)|nucleoplasm (GO:0005654)	metal ion binding (GO:0046872)|transferase activity, transferring acyl groups (GO:0016746)			breast(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(10)|prostate(3)|upper_aerodigestive_tract(1)	35						AAACTGGTTCGTAATAAGCCT	0.373																																						ENST00000269214.5																			0				breast(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(10)|prostate(3)|upper_aerodigestive_tract(1)	35						c.(1255-1257)Cga>Tga		establishment of sister chromatid cohesion N-acetyltransferase 1							100	102	101					18																	19153550		2203	4300	6503	SO:0001587	stop_gained	114799				cell cycle|post-translational protein acetylation|regulation of DNA replication	chromatin|nucleus	acyltransferase activity|metal ion binding	g.chr18:19153550G>A	AL832041	CCDS32800.1	18q11.2	2013-05-02	2013-05-02		ENSG00000141446	ENSG00000141446			24645	protein-coding gene	gene with protein product		609674	"establishment of cohesion 1 homolog 1 (S. cerevisiae)"			11572484, 14576321, 15958495	Standard	NM_052911		Approved	ESO1, EFO1, KIAA1911	uc002kth.1	Q5FWF5		ENST00000269214.5:c.1255C>T	18.37:g.19153550G>A	ENSP00000269214:p.Arg419*						p.R419*	NM_052911.2	NP_443143.2	Q5FWF5	ESCO1_HUMAN			4	2192	-			419					B0YJ11|B0YJ12|Q69YG4|Q69YS3|Q6IMD7|Q8N3Z5|Q8NBG2|Q96PX7	Nonsense_Mutation	SNP	ENST00000269214.5	37	c.1255C>T	CCDS32800.1	.	.	.	.	.	.	.	.	.	.	G	45	11.317889	0.99546	.	.	ENSG00000141446	ENST00000269214;ENST00000383276	.	.	.	5.8	2.68	0.31781	.	0.775370	0.11109	N	0.598830	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.18276	T	0.48	-18.2516	12.6554	0.56784	0.0:0.0:0.3607:0.6393	.	.	.	.	X	419	.	ENSP00000269214:R419X	R	-	1	2	ESCO1	17407548	0.987000	0.35691	0.865000	0.33974	0.982000	0.71751	1.872000	0.39549	0.761000	0.33130	0.655000	0.94253	CGA		0.373	ESCO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443942.1	NM_052911		5	192	0	0	0	1	0	5	192					A	19153550	G	A	19153550	4	1	217	1	0	0	0	0	0	1	0	0	5248	1153	40	1	1303	1	ESCO1	18	19153550	Nonsense_Mutation	SNP	G	TCGA-HC-7747-01A-11D-2114-08		19153550	58923698	64	10034											
TCF3	6929	broad.mit.edu	37	chr19	1615477	1615477	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgctccttctcccgctcggcCttctgctctggggggagaag	3	10	13	15	3	3	1	0	0	3	1	6	2	4	1	3	4	1	3	3	4	1	2	rs1052738		TCGA-HC-7747-01A-11D-2114-08	TCGA-HC-7747-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85714546-69c0-468e-b38a-3e0e886d44c7	67cdd8c3-0dbd-4b0d-87c3-49c9e86c24f6	g.chr19:1615477C>T	ENST00000262965.5	-	18	1973	c.1629G>A	c.(1627-1629)aaG>aaA	p.K543K	TCF3_ENST00000453954.2_Intron|RNU6-1223P_ENST00000517124.1_RNA|TCF3_ENST00000395423.3_Silent_p.K547K|TCF3_ENST00000588136.1_Intron|TCF3_ENST00000344749.5_Intron	NM_003200.3	NP_003191.1	Q9HCS4	TF7L1_HUMAN	transcription factor 3	0					anterior/posterior axis specification, embryo (GO:0008595)|axial mesoderm morphogenesis (GO:0048319)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|chromatin organization (GO:0006325)|generation of neurons (GO:0048699)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter during mitosis (GO:0046022)|regulation of stem cell maintenance (GO:2000036)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|regulation of Wnt signaling pathway (GO:0030111)|skin development (GO:0043588)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	16		Acute lymphoblastic leukemia(61;5.94e-12)|all_hematologic(61;1.27e-07)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCCGCTCGGCCTTCTGCTCTG	0.687			T	"PBX1, HLF, TFPT"	pre B-ALL																																	ENST00000262965.5				Dom	yes		19	19p13.3	6929	T	transcription factor 3 (E2A immunoglobulin enhancer binding factors E12/E47)			L	"PBX1, HLF, TFPT"		pre B-ALL		0				breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	16						c.(1627-1629)aaG>aaA		transcription factor 3							37	42	40					19																	1615477		2200	4298	6498	SO:0001819	synonymous_variant	6929				B cell lineage commitment|G1 phase of mitotic cell cycle|immunoglobulin V(D)J recombination|muscle cell differentiation|positive regulation of B cell proliferation|positive regulation of cell cycle|positive regulation of muscle cell differentiation|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus|protein complex|transcription factor complex	bHLH transcription factor binding|DNA binding|E-box binding|identical protein binding|mitogen-activated protein kinase kinase kinase binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|vitamin D response element binding	g.chr19:1615477C>T	M65214	CCDS12074.1, CCDS45899.1	19p13.3	2014-02-13	2013-02-26		ENSG00000071564	ENSG00000071564		"Basic helix-loop-helix proteins"	11633	protein-coding gene	gene with protein product	"transcription factor E2-alpha", "immunoglobulin transcription factor 1", "kappa-E2-binding factor", "E2A immunoglobulin enhancer-binding factor E12/E47", "VDR interacting repressor"	147141				2308859, 1967983	Standard	NM_003200		Approved	E2A, ITF1, MGC129647, MGC129648, bHLHb21, VDIR, E47	uc002ltt.4	P15923	OTTHUMG00000180031	ENST00000262965.5:c.1629G>A	19.37:g.1615477C>T						TCF3_ENST00000453954.2_Intron|TCF3_ENST00000588136.1_Intron|TCF3_ENST00000395423.3_Silent_p.K547K|TCF3_ENST00000344749.5_Intron	p.K543K	NM_003200.3	NP_003191.1	P15923	TFE2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	18	1973	-		Acute lymphoblastic leukemia(61;5.94e-12)|all_hematologic(61;1.27e-07)	543					Q53R97|Q6PD70|Q9NP00	Silent	SNP	ENST00000262965.5	37	c.1629G>A	CCDS12074.1																																																																																				0.687	TCF3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000449367.1	NM_003200		28	73	0	0	0	1	0	28	73					T	1615477	C	T	1615477	2	4	217	1	0	0	0	0	0	0	0	1	15691	680	24	3		3	TCF3	19	1615477	Silent	SNP	C	TCGA-HC-7747-01A-11D-2114-08		1615477	57513506	65	10035											
SF3A2	8175	broad.mit.edu	37	chr19	2248332	2248332	+	Frame_Shift_Del	DEL	C	C	-																															cctcaggccccaggggtgcaCccaccagccccagggatgca																										TCGA-HC-7747-01A-11D-2114-08	TCGA-HC-7747-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85714546-69c0-468e-b38a-3e0e886d44c7	8e4f9702-4f15-422a-8e25-b973bd31e6da	g.chr19:2248332delC	ENST00000221494.5	+	9	1600	c.1182delC	c.(1180-1182)cacfs	p.H394fs	MIR4321_ENST00000592276.1_RNA|AMH_ENST00000221496.4_5'Flank	NM_007165.4	NP_009096.2	Q15428	SF3A2_HUMAN	splicing factor 3a, subunit 2, 66kDa	394	Pro-rich.				gene expression (GO:0010467)|mRNA 3'-splice site recognition (GO:0000389)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|nucleoplasm (GO:0005654)|small nuclear ribonucleoprotein complex (GO:0030532)|spliceosomal complex (GO:0005681)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			NS(1)|large_intestine(1)|lung(2)	4		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CAGGGGTGCACCCACCAGCCC	0.756																																						ENST00000221494.4																			0				NS(1)|large_intestine(1)|lung(2)	4						c.(1180-1182)cafs		splicing factor 3a, subunit 2, 66kDa							2	3	3					19																	2248332		1733	3611	5344	SO:0001589	frameshift_variant	8175				nuclear mRNA 3'-splice site recognition	catalytic step 2 spliceosome|nucleoplasm|small nuclear ribonucleoprotein complex	nucleic acid binding|zinc ion binding	g.chr19:2248332delC	L21990	CCDS12084.1	19p13.3	2012-10-02	2002-08-29		ENSG00000104897	ENSG00000104897			10766	protein-coding gene	gene with protein product		600796	"splicing factor 3a, subunit 2, 66kD"			8211113, 8541848	Standard	NM_007165		Approved	SF3a66, SAP62, PRPF11, Prp11	uc002lvg.3	Q15428	OTTHUMG00000180414	ENST00000221494.5:c.1182delC	19.37:g.2248332delC	ENSP00000221494:p.His394fs						p.H394fs	NM_007165.4	NP_009096.2	Q15428	SF3A2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	9	1600	+		Hepatocellular(1079;0.137)	394			Pro-rich.		B2RBU1|D6W605|O75245	Frame_Shift_Del	DEL	ENST00000221494.5	37	c.1182delC	CCDS12084.1																																																																																				0.756	SF3A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451268.3			2	4						2	4	---	---	---	---	-	2248332	C	-	2248332	7	5	217	1	0	1	0	1	0	0	0	0	14147	506	18	0	1212	0	SF3A2	19	2248332	Frame_Shift_Del	DEL	C	TCGA-HC-7747-01A-11D-2114-08	632855	2248332	56880651	66	10036											
ZNF709	163051	broad.mit.edu	37	chr19	12575380	12575380	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caactgaaggctttaccacaCtgtttacattcatagggttt	11	14	7	9	0	1	1	1	1	0	0	1	1	1	1	1	2	3	3	1	2	5	7			TCGA-HC-7747-01A-11D-2114-08	TCGA-HC-7747-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85714546-69c0-468e-b38a-3e0e886d44c7	8e4f9702-4f15-422a-8e25-b973bd31e6da	g.chr19:12575380C>T	ENST00000397732.3	-	4	1527	c.1356G>A	c.(1354-1356)caG>caA	p.Q452Q	ZNF709_ENST00000428311.1_Silent_p.Q452Q|CTD-3105H18.18_ENST00000598753.1_Intron	NM_152601.3	NP_689814.1	Q8N972	ZN709_HUMAN	zinc finger protein 709	452					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			large_intestine(3)|upper_aerodigestive_tract(3)	6						CTTTACCACACTGTTTACATT	0.403																																					GBM(33;565 669 12371 29134 51667)	ENST00000397732.3																			0				large_intestine(3)|upper_aerodigestive_tract(3)	6						c.(1354-1356)caG>caA		zinc finger protein 709							102	108	106					19																	12575380		2203	4296	6499	SO:0001819	synonymous_variant	163051				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12575380C>T	AK095600	CCDS42504.1	19p13.2	2013-01-08			ENSG00000242852	ENSG00000242852		"Zinc fingers, C2H2-type", "-"	20629	protein-coding gene	gene with protein product							Standard	NM_152601		Approved	FLJ38281	uc002mtv.4	Q8N972	OTTHUMG00000156406	ENST00000397732.3:c.1356G>A	19.37:g.12575380C>T						CTD-3105H18.18_ENST00000598753.1_Intron|ZNF709_ENST00000428311.1_Silent_p.Q452Q	p.Q452Q	NM_152601.3	NP_689814.1	Q8N972	ZN709_HUMAN			4	1527	-			452					A8K4E6	Silent	SNP	ENST00000397732.3	37	c.1356G>A	CCDS42504.1																																																																																				0.403	ZNF709-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344088.1	NM_152601		6	183	0	0	0	1	0	6	183					T	12575380	C	T	12575380	2	4	217	1	0	0	0	0	0	0	0	1	18110	564	20	3		3	ZNF709	19	12575380	Silent	SNP	C	TCGA-HC-7747-01A-11D-2114-08	10327048	12575380	46553603	67	10037											
CYP4F8	11283	broad.mit.edu	37	chr19	15739644	15739644	+	RNA	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcttttattcctttctcggCggggcccaggtgaggccagg	4	11	15	11	2	1	1	0	1	1	0	3	1	2	1	3	7	0	1	3	7	1	4			TCGA-HC-7747-01A-11D-2114-08	TCGA-HC-7747-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85714546-69c0-468e-b38a-3e0e886d44c7	67cdd8c3-0dbd-4b0d-87c3-49c9e86c24f6	g.chr19:15739644C>T	ENST00000441682.2	+	0	1449							P98187	CP4F8_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 8						icosanoid metabolic process (GO:0006690)|prostaglandin metabolic process (GO:0006693)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	alkane 1-monooxygenase activity (GO:0018685)|aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(1)	26						CCTTTCTCGGCGGGGCCCAGG	0.587																																						ENST00000441682.2																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(1)	26								cytochrome P450, family 4, subfamily F, polypeptide 8							44	48	47					19																	15739644		2006	4196	6202			11283				prostaglandin metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	alkane 1-monooxygenase activity|aromatase activity|electron carrier activity|heme binding|oxygen binding|protein binding	g.chr19:15739644C>T	AF133298	CCDS74303.1	19p13.12	2013-11-11	2003-01-14		ENSG00000186526	ENSG00000186526		"Cytochrome P450s"	2648	protein-coding gene	gene with protein product		611545	"cytochrome P450, subfamily IVF, polypeptide 8"			10405341	Standard	NM_007253		Approved		uc002nbi.3	P98187	OTTHUMG00000182386		19.37:g.15739644C>T										P98187	CP4F8_HUMAN			0	1449	+									RNA	SNP	ENST00000441682.2	37			.	.	.	.	.	.	.	.	.	.	.	16.55	3.154859	0.57259	.	.	ENSG00000186526	ENST00000441682;ENST00000325723	.	.	.	3.32	2.27	0.28462	Cytochrome P450, conserved site (1);	0.079472	0.48767	U	0.000170	T	0.50922	0.1644	.	.	.	0.39606	D	0.969805	P;D	0.55800	0.752;0.973	P;P	0.51297	0.595;0.665	T	0.64158	-0.6473	7	0.72032	D	0.01	.	8.1849	0.31333	0.0:0.8756:0.0:0.1244	.	275;463	B4DU85;P98187	.;CP4F8_HUMAN	V	462;275	.	ENSP00000314398:A275V	A	+	2	0	CYP4F8	15600644	0.988000	0.35896	0.007000	0.13788	0.568000	0.35870	3.778000	0.55371	0.592000	0.29728	0.436000	0.28706	GCG		0.587	CYP4F8-201	KNOWN	basic	processed_transcript	processed_transcript		NM_007253		6	70	0	0	0	1	0	6	70					T	15739644	C	T	15739644	1	4	217	0	1	0	0	0	0	0	0	0	4191	768	27	1		1	CYP4F8	19	15739644	RNA	SNP	C	TCGA-HC-7747-01A-11D-2114-08	3164264	15739644	43389339	68	10038											
OR10H4	126541	broad.mit.edu	37	chr19	16060516	16060516	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atcttgaggattccctctgcCgaaggccggcacaagacatt	10	9	10	12	2	2	2	0	1	2	1	3	4	3	3	3	3	1	1	3	3	2	3	rs370722157		TCGA-HC-7747-01A-11D-2114-08	TCGA-HC-7747-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85714546-69c0-468e-b38a-3e0e886d44c7	67cdd8c3-0dbd-4b0d-87c3-49c9e86c24f6	g.chr19:16060516C>T	ENST00000322107.1	+	1	699	c.699C>T	c.(697-699)gcC>gcT	p.A233A		NM_001004465.1	NP_001004465.1	Q8NGA5	O10H4_HUMAN	olfactory receptor, family 10, subfamily H, member 4	233						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1)	17						TTCCCTCTGCCGAAGGCCGGC	0.512																																						ENST00000322107.1																			0				breast(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1)	17						c.(697-699)gcC>gcT		olfactory receptor, family 10, subfamily H, member 4		C		0,4406		0,0,2203	196	179	185		699	-1.6	0.1	19		185	2,8598		0,2,4298	no	coding-synonymous	OR10H4	NM_001004465.1		0,2,6501	TT,TC,CC		0.0233,0.0,0.0154		233/317	16060516	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	126541				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr19:16060516C>T	AC011517	CCDS32941.1	19p13.12	2013-09-24			ENSG00000176231	ENSG00000176231		"GPCR / Class A : Olfactory receptors"	15388	protein-coding gene	gene with protein product							Standard	NM_001004465		Approved		uc010xov.2	Q8NGA5	OTTHUMG00000182268	ENST00000322107.1:c.699C>T	19.37:g.16060516C>T							p.A233A	NM_001004465.1	NP_001004465.1	Q8NGA5	O10H4_HUMAN			1	699	+			233					Q6IFJ2|Q96R57	Silent	SNP	ENST00000322107.1	37	c.699C>T	CCDS32941.1																																																																																				0.512	OR10H4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460311.1			5	171	0	0	0	1	0	5	171					T	16060516	C	T	16060516	2	4	217	1	0	0	0	0	0	0	0	1	10908	639	23	2		2	OR10H4	19	16060516	Silent	SNP	C	TCGA-HC-7747-01A-11D-2114-08	320872	16060516	43068467	69	10039											
ZNF536	9745	broad.mit.edu	37	chr19	30936378	30936378	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccaccgagtgccccgactgcGgccgggtgttccgcacttac	5	7	12	17	5	0	0	0	0	0	0	1	2	1	0	6	2	3	2	6	2	1	2			TCGA-HC-7747-01A-11D-2114-08	TCGA-HC-7747-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85714546-69c0-468e-b38a-3e0e886d44c7	67cdd8c3-0dbd-4b0d-87c3-49c9e86c24f6	g.chr19:30936378G>A	ENST00000355537.3	+	2	2056	c.1909G>A	c.(1909-1911)Ggc>Agc	p.G637S		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	637					negative regulation of neuron differentiation (GO:0045665)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|retinoic acid-responsive element binding (GO:0044323)	p.G637S(1)		NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					CCCCGACTGCGGCCGGGTGTT	0.622																																						ENST00000355537.3																			1	Substitution - Missense(1)	p.G637S(1)	large_intestine(1)	NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182						c.(1909-1911)Ggc>Agc		zinc finger protein 536							82	94	90					19																	30936378		2203	4300	6503	SO:0001583	missense	9745				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	g.chr19:30936378G>A		CCDS32984.1	19q13.11	2013-01-08				ENSG00000198597		"Zinc fingers, C2H2-type"	29025	protein-coding gene	gene with protein product						9205841	Standard	XM_005259445		Approved	KIAA0390	uc002nsu.1	O15090		ENST00000355537.3:c.1909G>A	19.37:g.30936378G>A	ENSP00000347730:p.Gly637Ser						p.G637S	NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN			2	2056	+	Esophageal squamous(110;0.0834)		637					A2RU18	Missense_Mutation	SNP	ENST00000355537.3	37	c.1909G>A	CCDS32984.1	.	.	.	.	.	.	.	.	.	.	G	19.06	3.754706	0.69648	.	.	ENSG00000198597	ENST00000355537	T	0.58358	0.34	5.68	4.62	0.57501	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.049558	0.85682	D	0.000000	T	0.67822	0.2934	L	0.59436	1.845	0.54753	D	0.999984	D;D	0.76494	0.999;0.999	D;D	0.64595	0.927;0.927	T	0.71935	-0.4442	10	0.72032	D	0.01	-33.1419	16.434	0.83869	0.0:0.1316:0.8684:0.0	.	637;637	A7E228;O15090	.;ZN536_HUMAN	S	637	ENSP00000347730:G637S	ENSP00000347730:G637S	G	+	1	0	ZNF536	35628218	1.000000	0.71417	0.998000	0.56505	0.999000	0.98932	9.435000	0.97529	1.324000	0.45282	0.655000	0.94253	GGC		0.622	ZNF536-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459667.2	NM_014717		4	173	0	0	0	1	0	4	173					A	30936378	G	A	30936378	3	1	217	1	0	0	0	0	1	0	0	0	17971	1116	39	2	1911	2	ZNF536	19	30936378	Missense_Mutation	SNP	G	TCGA-HC-7747-01A-11D-2114-08	14875862	30936378	28192605	70	10040											
CATSPERG	57828	broad.mit.edu	37	chr19	38858384	38858384	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcaaggactacagtgaggaCgaaatctaccgcttcaacag	14	7	9	11	2	3	1	2	1	1	0	3	4	3	3	1	2	3	1	1	2	5	3	rs2302184		TCGA-HC-7747-01A-11D-2114-08	TCGA-HC-7747-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85714546-69c0-468e-b38a-3e0e886d44c7	67cdd8c3-0dbd-4b0d-87c3-49c9e86c24f6	g.chr19:38858384C>T	ENST00000409235.3	+	25	3013	c.2898C>T	c.(2896-2898)gaC>gaT	p.D966D	CATSPERG_ENST00000410018.1_Silent_p.D926D|CATSPERG_ENST00000215069.4_3'UTR	NM_021185.4	NP_067008.3	Q6ZRH7	CTSRG_HUMAN	catsper channel auxiliary subunit gamma	966					cell differentiation (GO:0030154)|multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)|spermatogenesis (GO:0007283)	CatSper complex (GO:0036128)|plasma membrane (GO:0005886)|sperm principal piece (GO:0097228)				breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(13)|ovary(1)|pancreas(2)|prostate(6)|skin(3)|stomach(1)|urinary_tract(2)	40						ACAGTGAGGACGAAATCTACC	0.597													C|||	1	0.000199681	0	0	5008	,	,		17275	0		0	False		,,,				2504	0.001					ENST00000409235.3																			0				breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(13)|ovary(1)|pancreas(2)|prostate(6)|skin(3)|stomach(1)|urinary_tract(2)	40						c.(2896-2898)gaC>gaT		catsper channel auxiliary subunit gamma		C		0,4406		0,0,2203	227	238	234		2898	-3.5	0.3	19	dbSNP_100	234	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	CATSPERG	NM_021185.4		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		966/1160	38858384	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	57828				cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane		g.chr19:38858384C>T	AK128220	CCDS12514.2	19q13.1	2014-05-13	2012-02-22	2009-07-17	ENSG00000099338	ENSG00000099338			25243	protein-coding gene	gene with protein product		613452	"chromosome 19 open reading frame 15", "cation channel, sperm-associated, gamma"	C19orf15		19516020	Standard	NM_021185		Approved	DKFZp434A1022, FLJ46353	uc002oih.4	Q6ZRH7	OTTHUMG00000153223	ENST00000409235.3:c.2898C>T	19.37:g.38858384C>T						CATSPERG_ENST00000410018.1_Silent_p.D926D|CATSPERG_ENST00000215069.4_3'UTR	p.D966D	NM_021185.4	NP_067008.3	Q6ZRH7	CTSRG_HUMAN			25	3013	+			966					A6NEG6|Q659E1	Silent	SNP	ENST00000409235.3	37	c.2898C>T	CCDS12514.2																																																																																				0.597	CATSPERG-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000330204.1	NM_021185		27	388	0	0	0	1	0	27	388					T	38858384	C	T	38858384	2	4	217	1	0	0	0	0	0	0	0	1	2692	535	19	1		1	CATSPERG	19	38858384	Silent	SNP	C	TCGA-HC-7747-01A-11D-2114-08	7922006	38858384	20270599	71	10041											
CNTD2	79935	broad.mit.edu	37	chr19	40730407	40730407	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggaagtacctcgggaagcacGcactcttccattttgcacgc	9	9	10	13	3	1	0	0	0	1	0	3	2	2	2	2	2	3	4	2	2	3	4			TCGA-HC-7747-01A-11D-2114-08	TCGA-HC-7747-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85714546-69c0-468e-b38a-3e0e886d44c7	67cdd8c3-0dbd-4b0d-87c3-49c9e86c24f6	g.chr19:40730407G>A	ENST00000430325.2	-	3	549	c.501C>T	c.(499-501)tgC>tgT	p.C167C	CNTD2_ENST00000433940.1_Silent_p.C137C|CNTD2_ENST00000513948.1_Silent_p.C61C	NM_024877.3	NP_079153.2	Q9H8S5	CNTD2_HUMAN	cyclin N-terminal domain containing 2	167	Cyclin N-terminal.				regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)					lung(1)|prostate(1)	2						CGGGAAGCACGCACTCTTCCA	0.592																																						ENST00000430325.2																			0				lung(1)|prostate(1)	2						c.(499-501)tgC>tgT		cyclin N-terminal domain containing 2							178	196	190					19																	40730407		2203	4300	6503	SO:0001819	synonymous_variant	79935				regulation of cyclin-dependent protein kinase activity		protein kinase binding	g.chr19:40730407G>A	AK023327	CCDS12551.1, CCDS12551.2	19q13.2	2014-07-03				ENSG00000105219			25805	protein-coding gene	gene with protein product	"cyclin P"					11237006	Standard	NM_024877		Approved	FLJ13265, CCNP	uc010xvi.2	Q9H8S5		ENST00000430325.2:c.501C>T	19.37:g.40730407G>A						CNTD2_ENST00000433940.1_Silent_p.C137C|CNTD2_ENST00000513948.1_Silent_p.C61C	p.C167C	NM_024877.3	NP_079153.2	B4DX65	B4DX65_HUMAN			3	549	-			167					B4DX65	Silent	SNP	ENST00000430325.2	37	c.501C>T	CCDS12551.2																																																																																				0.592	CNTD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360785.1	NM_024877		9	486	0	0	0	1	0	9	486					A	40730407	G	A	40730407	2	1	217	1	0	0	0	0	0	0	0	1	3636	1079	38	1		1	CNTD2	19	40730407	Silent	SNP	G	TCGA-HC-7747-01A-11D-2114-08	1872023	40730407	18398576	72	10042											
CEACAM1	634	broad.mit.edu	37	chr19	43026110	43026110	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtgactgggtcactgcggttCgcactcactgggttctgtat	5	13	13	10	2	3	1	2	1	1	0	4	1	3	1	0	3	1	4	0	3	1	3	rs143281867		TCGA-HC-7747-01A-11D-2114-08	TCGA-HC-7747-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85714546-69c0-468e-b38a-3e0e886d44c7	67cdd8c3-0dbd-4b0d-87c3-49c9e86c24f6	g.chr19:43026110C>T	ENST00000161559.6	-	3	803	c.669G>A	c.(667-669)gcG>gcA	p.A223A	CEACAM1_ENST00000308072.4_Silent_p.A183A|LIPE-AS1_ENST00000594688.1_RNA|LIPE-AS1_ENST00000457234.2_RNA|CEACAM1_ENST00000403444.3_Silent_p.A223A|LIPE-AS1_ENST00000594624.2_RNA|CEACAM1_ENST00000352591.5_Silent_p.A223A|CEACAM1_ENST00000599389.1_Silent_p.A223A|CEACAM1_ENST00000351134.3_Intron|CEACAM1_ENST00000403461.1_Silent_p.A223A|CEACAM1_ENST00000358394.3_Silent_p.A223A	NM_001712.4	NP_001703.2	P13688	CEAM1_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 1 (biliary glycoprotein)	223	Ig-like C2-type 1.				angiogenesis (GO:0001525)|cell migration (GO:0016477)|homophilic cell adhesion (GO:0007156)|integrin-mediated signaling pathway (GO:0007229)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	17		Prostate(69;0.00682)		GBM - Glioblastoma multiforme(486;0.00148)	Arcitumomab(DB00113)	CACTGCGGTTCGCACTCACTG	0.557													C|||	1	0.000199681	0	0	5008	,	,		20473	0		0.001	False		,,,				2504	0					ENST00000161559.6																			0				breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	17						c.(667-669)gcG>gcA		carcinoembryonic antigen-related cell adhesion molecule 1 (biliary glycoprotein)	Arcitumomab(DB00113)	C	,,,,,	0,4406		0,0,2203	202	180	188		669,669,669,669,669,669	-4.9	0	19	dbSNP_134	188	3,8597		0,3,4297	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	CEACAM1	NM_001024912.2,NM_001184813.1,NM_001184815.1,NM_001184816.1,NM_001205344.1,NM_001712.4	,,,,,	0,3,6500	TT,TC,CC		0.0349,0.0,0.0231	,,,,,	223/465,223/431,223/462,223/369,223/469,223/527	43026110	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	634				angiogenesis|cell migration|homophilic cell adhesion|integrin-mediated signaling pathway	extracellular region|integral to plasma membrane|membrane fraction		g.chr19:43026110C>T	M72238	CCDS12609.1, CCDS46089.1, CCDS54272.1, CCDS54273.1, CCDS54274.1	19q13.2	2014-05-16			ENSG00000079385	ENSG00000079385		"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	1814	protein-coding gene	gene with protein product		109770		BGP		2457922, 2025273	Standard	NM_001712		Approved	BGP1, CD66a	uc002otv.3	P13688	OTTHUMG00000151078	ENST00000161559.6:c.669G>A	19.37:g.43026110C>T						CEACAM1_ENST00000403444.3_Silent_p.A223A|CEACAM1_ENST00000352591.5_Silent_p.A223A|CEACAM1_ENST00000351134.3_Intron|CEACAM1_ENST00000308072.4_Silent_p.A183A|LIPE-AS1_ENST00000594688.1_RNA|LIPE-AS1_ENST00000594624.2_RNA|CEACAM1_ENST00000403461.1_Silent_p.A223A|CEACAM1_ENST00000599389.1_Silent_p.A223A|CEACAM1_ENST00000358394.3_Silent_p.A223A|LIPE-AS1_ENST00000457234.2_RNA	p.A223A	NM_001712.4	NP_001703.2	P13688	CEAM1_HUMAN		GBM - Glioblastoma multiforme(486;0.00148)	3	803	-		Prostate(69;0.00682)	223			Ig-like C2-type 1.		A6NE38|A8MY49|O60430|Q069I7|Q13854|Q13857|Q13858|Q13859|Q13860|Q15600|Q15601|Q16170|Q5UB49|Q7KYP5|Q96CA7|Q9UQV9	Silent	SNP	ENST00000161559.6	37	c.669G>A	CCDS12609.1																																																																																				0.557	CEACAM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000321190.2	NM_001712		5	189	0	0	0	1	0	5	189					T	43026110	C	T	43026110	2	4	217	1	0	0	0	0	0	0	0	1	3187	871	31	2		2	CEACAM1	19	43026110	Silent	SNP	C	TCGA-HC-7747-01A-11D-2114-08	2295703	43026110	16102873	73	10043											
MKL1	57591	broad.mit.edu	37	chr22	40816901	40816901	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttgtggtgctgctgctgctgCtggttgaggatctgcagctg	3	14	16	8	0	1	1	0	1	1	0	1	2	1	2	0	3	7	8	0	3	0	2			TCGA-HC-7747-01A-11D-2114-08	TCGA-HC-7747-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85714546-69c0-468e-b38a-3e0e886d44c7	67cdd8c3-0dbd-4b0d-87c3-49c9e86c24f6	g.chr22:40816901C>G	ENST00000355630.3	-	10	1421	c.831G>C	c.(829-831)caG>caC	p.Q277H	MKL1_ENST00000402042.1_Missense_Mutation_p.Q227H|MKL1_ENST00000407029.1_Missense_Mutation_p.Q277H|MKL1_ENST00000396617.3_Missense_Mutation_p.Q277H	NM_020831.3	NP_065882.1	Q969V6	MKL1_HUMAN	megakaryoblastic leukemia (translocation) 1	277	Gln-rich.				negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription via serum response element binding (GO:0010735)|smooth muscle cell differentiation (GO:0051145)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	actin binding (GO:0003779)|actin monomer binding (GO:0003785)|leucine zipper domain binding (GO:0043522)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	30						GCTGCTGCTGCTGGTTGAGGA	0.657			T	RBM15	acute megakaryocytic leukemia																																	ENST00000396617.3				Dom	yes		22	22q13	57591	T	megakaryoblastic leukemia (translocation) 1			L	RBM15		acute megakaryocytic leukemia		0				breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	30						c.(829-831)caG>caC		megakaryoblastic leukemia (translocation) 1							62	63	62					22																	40816901		2203	4300	6503	SO:0001583	missense	57591				positive regulation of transcription from RNA polymerase II promoter|smooth muscle cell differentiation|transcription, DNA-dependent	cytoplasm|nucleus	actin monomer binding|leucine zipper domain binding|nucleic acid binding|transcription coactivator activity	g.chr22:40816901C>G	AB037859	CCDS14003.1, CCDS74865.1, CCDS74866.1	22q13	2008-06-12			ENSG00000196588	ENSG00000196588			14334	protein-coding gene	gene with protein product	"megakaryocytic acute leukemia", "myocardin-related transcription factor A", "basic, SAP and coiled-coil domain"	606078				11431691, 12019265, 14970199	Standard	XM_005261692		Approved	KIAA1438, MAL, MRTF-A, BSAC	uc003ayw.1	Q969V6	OTTHUMG00000151146	ENST00000355630.3:c.831G>C	22.37:g.40816901C>G	ENSP00000347847:p.Gln277His					MKL1_ENST00000355630.3_Missense_Mutation_p.Q277H|MKL1_ENST00000407029.1_Missense_Mutation_p.Q277H|MKL1_ENST00000402042.1_Missense_Mutation_p.Q227H	p.Q277H			Q969V6	MKL1_HUMAN			10	1421	-			277			Gln-rich.		Q8TCL1|Q96SC5|Q96SC6|Q9P2B0	Missense_Mutation	SNP	ENST00000355630.3	37	c.831G>C	CCDS14003.1	.	.	.	.	.	.	.	.	.	.	C	19.12	3.766193	0.69878	.	.	ENSG00000196588	ENST00000355630;ENST00000396617;ENST00000402042;ENST00000407029	T;T;T;T	0.61859	0.16;0.11;0.07;0.16	5.26	4.24	0.50183	.	0.000000	0.85682	D	0.000000	T	0.73353	0.3576	M	0.77616	2.38	0.48696	D	0.999692	P;D;P	0.67145	0.787;0.996;0.787	B;D;B	0.75484	0.294;0.986;0.294	T	0.75385	-0.3336	10	0.66056	D	0.02	-15.2355	9.9937	0.41887	0.0:0.8449:0.0:0.1551	.	227;277;277	B0QY83;E7ER32;Q969V6	.;.;MKL1_HUMAN	H	277;277;227;277	ENSP00000347847:Q277H;ENSP00000379861:Q277H;ENSP00000385584:Q227H;ENSP00000385835:Q277H	ENSP00000347847:Q277H	Q	-	3	2	MKL1	39146847	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.270000	0.51600	1.210000	0.43336	0.462000	0.41574	CAG		0.657	MKL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321522.1	NM_020831		3	62	0	0	0	1	0	3	62					G	40816901	C	G	40816901	3	3	217	1	0	0	0	0	1	0	0	0	9601	796	28	5	1988	5	MKL1	22	40816901	Missense_Mutation	SNP	C	TCGA-HC-7747-01A-11D-2114-08		40816901	10487665	74	10044											
NHS	4810	broad.mit.edu	37	chrX	17744786	17744786	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caaagccgaccccacctaaaCgtagctcatcattgaggaag	14	6	8	13	2	2	1	2	1	0	0	2	3	2	2	4	1	3	2	4	1	5	3			TCGA-HC-7747-01A-11D-2114-08	TCGA-HC-7747-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85714546-69c0-468e-b38a-3e0e886d44c7	67cdd8c3-0dbd-4b0d-87c3-49c9e86c24f6	g.chrX:17744786C>T	ENST00000380060.3	+	6	2835	c.2497C>T	c.(2497-2499)Cgt>Tgt	p.R833C	NHS_ENST00000398097.3_Missense_Mutation_p.R677C	NM_198270.2	NP_938011.1	Q6T4R5	NHS_HUMAN	Nance-Horan syndrome (congenital cataracts and dental anomalies)	854					cell differentiation (GO:0030154)|lens development in camera-type eye (GO:0002088)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|tight junction (GO:0005923)				breast(5)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(26)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	71	Hepatocellular(33;0.183)					CCCACCTAAACGTAGCTCATC	0.488																																						ENST00000380060.3																			0				breast(5)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(26)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	71						c.(2497-2499)Cgt>Tgt		Nance-Horan syndrome (congenital cataracts and dental anomalies)							120	115	117					X																	17744786		2203	4300	6503	SO:0001583	missense	4810					nucleus		g.chrX:17744786C>T		CCDS14181.1, CCDS48087.1	Xp22.3-p21.1	2014-06-18			ENSG00000188158	ENSG00000188158			7820	protein-coding gene	gene with protein product		300457					Standard	NM_001136024		Approved		uc004cxx.3	Q6T4R5	OTTHUMG00000022799	ENST00000380060.3:c.2497C>T	X.37:g.17744786C>T	ENSP00000369400:p.Arg833Cys					NHS_ENST00000398097.3_Missense_Mutation_p.R677C	p.R833C	NM_198270.2	NP_938011.1	Q6T4R5	NHS_HUMAN			6	2835	+	Hepatocellular(33;0.183)		833					B7ZVX8|E2DH69|Q5J7Q0|Q5J7Q1|Q68DR5	Missense_Mutation	SNP	ENST00000380060.3	37	c.2497C>T	CCDS14181.1	.	.	.	.	.	.	.	.	.	.	C	14.28	2.487264	0.44249	.	.	ENSG00000188158	ENST00000380060;ENST00000398097;ENST00000380057	T;T	0.81163	-1.46;-1.42	5.93	5.06	0.68205	.	0.000000	0.85682	D	0.000000	D	0.89894	0.6847	M	0.81497	2.545	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;0.998	D	0.91111	0.4922	10	0.87932	D	0	-13.2308	15.5434	0.76074	0.1391:0.8609:0.0:0.0	.	854;675;677;833	B7ZVX8;C9IYM8;Q6T4R5-2;Q6T4R5	.;.;.;NHS_HUMAN	C	833;677;675	ENSP00000369400:R833C;ENSP00000381170:R677C	ENSP00000369397:R675C	R	+	1	0	NHS	17654707	1.000000	0.71417	0.973000	0.42090	0.966000	0.64601	4.695000	0.61767	1.240000	0.43803	0.538000	0.68166	CGT		0.488	NHS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059120.1	NM_198270		4	78	0	0	0	1	0	4	78					T	17744786	C	T	17744786	3	4	217	1	0	0	0	0	1	0	0	0	10411	536	19	1	2624	1	NHS	23	17744786	Missense_Mutation	SNP	C	TCGA-HC-7747-01A-11D-2114-08		17744786	137525774	75	10045											
FAM199X	139231	broad.mit.edu	37	chrX	103432835	103432835	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgagcggtgccagtgccagcGccagcagcagcagtgccagc	8	4	15	14	2	0	1	0	1	0	0	0	1	0	1	4	1	9	3	4	1	0	0			TCGA-HC-7747-01A-11D-2114-08	TCGA-HC-7747-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85714546-69c0-468e-b38a-3e0e886d44c7	67cdd8c3-0dbd-4b0d-87c3-49c9e86c24f6	g.chrX:103432835G>A	ENST00000493442.1	+	5	1010	c.844G>A	c.(844-846)Gcc>Acc	p.A282T	FAM199X_ENST00000299906.5_3'UTR	NM_207318.3	NP_997201.1	Q6PEV8	F199X_HUMAN	family with sequence similarity 199, X-linked	282	Ser-rich.									breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(1)	11						CAGTGCCAGCGCCAGCAGCAG	0.567																																						ENST00000493442.1																			0				breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(1)	11						c.(844-846)Gcc>Acc		family with sequence similarity 199, X-linked							106	97	100					X																	103432835		2203	4300	6503	SO:0001583	missense	139231							g.chrX:103432835G>A	BC016683	CCDS35364.1	Xq22	2010-02-11	2010-02-11	2010-02-11	ENSG00000123575	ENSG00000123575			25195	protein-coding gene	gene with protein product			"chromosome X open reading frame 39"	CXorf39			Standard	NM_207318		Approved		uc004elw.3	Q6PEV8	OTTHUMG00000022126	ENST00000493442.1:c.844G>A	X.37:g.103432835G>A	ENSP00000417581:p.Ala282Thr					FAM199X_ENST00000299906.5_3'UTR	p.A282T	NM_207318.3	NP_997201.1	Q6PEV8	F199X_HUMAN			5	1010	+			282			Ser-rich.		Q8WVP6|Q96AV3	Missense_Mutation	SNP	ENST00000493442.1	37	c.844G>A	CCDS35364.1	.	.	.	.	.	.	.	.	.	.	G	11.70	1.716669	0.30413	.	.	ENSG00000123575	ENST00000493442	T	0.45668	0.89	5.15	5.15	0.70609	.	0.517672	0.19964	N	0.102141	T	0.24470	0.0593	N	0.08118	0	0.35979	D	0.835852	B;B	0.25743	0.001;0.133	B;B	0.17433	0.001;0.018	T	0.20009	-1.0288	9	.	.	.	-3.0162	16.8491	0.85989	0.0:0.0:1.0:0.0	.	282;282	Q6PEV8-2;Q6PEV8	.;F199X_HUMAN	T	282	ENSP00000417581:A282T	.	A	+	1	0	FAM199X	103319491	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.979000	0.76154	2.270000	0.75569	0.506000	0.49869	GCC		0.567	FAM199X-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057764.1	NM_207318		4	76	0	0	0	1	0	4	76					A	103432835	G	A	103432835	3	1	217	1	0	0	0	0	1	0	0	0	5530	1087	38	1	862	1	FAM199X	23	103432835	Missense_Mutation	SNP	G	TCGA-HC-7747-01A-11D-2114-08	85688049	103432835	51837725	76	10046											
GPR119	139760	broad.mit.edu	37	chrX	129519055	129519055	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcccggcaatgcaggcccCggccacgaacccactcatga	10	3	10	18	3	1	1	1	1	0	0	1	2	1	1	5	3	3	2	5	3	2	0			TCGA-HC-7747-01A-11D-2114-08	TCGA-HC-7747-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85714546-69c0-468e-b38a-3e0e886d44c7	67cdd8c3-0dbd-4b0d-87c3-49c9e86c24f6	g.chrX:129519055C>T	ENST00000276218.2	-	1	456	c.367G>A	c.(367-369)Ggg>Agg	p.G123R		NM_178471.2	NP_848566.1	Q8TDV5	GP119_HUMAN	G protein-coupled receptor 119	123					insulin secretion (GO:0030073)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	G-protein coupled receptor activity (GO:0004930)|phosphatidylcholine binding (GO:0031210)			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(3)|prostate(1)	11						ATGCAGGCCCCGGCCACGAAC	0.567																																						ENST00000276218.2																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(3)|prostate(1)	11						c.(367-369)Ggg>Agg		G protein-coupled receptor 119							94	90	92					X																	129519055		2203	4300	6503	SO:0001583	missense	139760					integral to membrane|plasma membrane	lipid binding	g.chrX:129519055C>T	AY288416	CCDS14625.1	Xq26.1	2014-01-30			ENSG00000147262	ENSG00000147262		"GPCR / Class A : Orphans"	19060	protein-coding gene	gene with protein product		300513				12044878, 14623098	Standard	NM_178471		Approved	hGPCR2, GPCR2	uc011muv.2	Q8TDV5	OTTHUMG00000022397	ENST00000276218.2:c.367G>A	X.37:g.129519055C>T	ENSP00000276218:p.Gly123Arg						p.G123R	NM_178471.2	NP_848566.1	Q8TDV5	GP119_HUMAN			1	456	-			123					Q495H7|Q4VBN3	Missense_Mutation	SNP	ENST00000276218.2	37	c.367G>A	CCDS14625.1	.	.	.	.	.	.	.	.	.	.	C	5.393	0.257718	0.10239	.	.	ENSG00000147262	ENST00000276218	T	0.36157	1.27	4.96	4.1	0.47936	GPCR, rhodopsin-like superfamily (1);	0.219309	0.38720	N	0.001596	T	0.22126	0.0533	L	0.27053	0.805	0.09310	N	0.999995	B	0.15141	0.012	B	0.14578	0.011	T	0.15292	-1.0442	10	0.23891	T	0.37	-3.1175	6.9094	0.24327	0.1719:0.7354:0.0:0.0928	.	123	Q8TDV5	GP119_HUMAN	R	123	ENSP00000276218:G123R	ENSP00000276218:G123R	G	-	1	0	GPR119	129346736	0.178000	0.23122	0.602000	0.28890	0.787000	0.44495	2.014000	0.40951	1.082000	0.41137	-0.305000	0.09177	GGG		0.567	GPR119-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058270.1	NM_178471		4	86	0	0	0	1	0	4	86					T	129519055	C	T	129519055	3	4	217	1	0	0	0	0	1	0	0	0	6634	652	23	2	644	2	GPR119	23	129519055	Missense_Mutation	SNP	C	TCGA-HC-7747-01A-11D-2114-08	26086220	129519055	25751505	77	10047											
MED8	112950	broad.mit.edu	37	chr1	43852653	43852653	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	catggctgaaaacaggcaccCgtccttcagtctgccgctgt	8	9	10	14	2	2	1	1	1	1	0	3	1	3	1	3	2	2	3	3	2	2	1			TCGA-HC-7748-01A-11D-2114-08	TCGA-HC-7748-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e10b6bea-f2b0-4473-be35-709908f6f57b	deaa52ae-c93d-44dd-a41e-2d3b8efb7f6d	g.chr1:43852653C>T	ENST00000372457.4	-	4	330	c.287G>A	c.(286-288)cGg>cAg	p.R96Q	MED8_ENST00000372455.4_Missense_Mutation_p.R7Q|SZT2_ENST00000310739.4_5'Flank|RP1-92O14.6_ENST00000436713.1_RNA|SZT2_ENST00000562955.1_5'Flank|MED8_ENST00000290663.6_Missense_Mutation_p.R96Q|SZT2_ENST00000372450.4_5'Flank	NM_001001653.2|NM_201542.3	NP_001001653.1|NP_963836.2	Q96G25	MED8_HUMAN	mediator complex subunit 8	96					gene expression (GO:0010467)|protein ubiquitination (GO:0016567)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|nucleoplasm (GO:0005654)	RNA polymerase II transcription cofactor activity (GO:0001104)	p.R7L(1)|p.R96L(1)		endometrium(2)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)	9	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				AACAGGCACCCGTCCTTCAGT	0.498																																						ENST00000372457.4																			2	Substitution - Missense(2)	p.R7L(1)|p.R96L(1)	lung(2)	endometrium(2)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)	9						c.(286-288)cGg>cAg		mediator complex subunit 8							173	155	161					1																	43852653		2203	4300	6503	SO:0001583	missense	112950				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex		g.chr1:43852653C>T	AF521562, BC010543	CCDS486.2, CCDS487.2, CCDS60108.1	1p34.1	2008-02-05	2007-07-30		ENSG00000159479	ENSG00000159479			19971	protein-coding gene	gene with protein product		607956	"mediator of RNA polymerase II transcription, subunit 8 homolog (S. cerevisiae)"			12149480, 9671713	Standard	NM_052877		Approved	MGC17544, MGC19641, ARC32	uc001cje.2	Q96G25	OTTHUMG00000007421	ENST00000372457.4:c.287G>A	1.37:g.43852653C>T	ENSP00000361535:p.Arg96Gln					MED8_ENST00000372455.4_Missense_Mutation_p.R7Q|MED8_ENST00000290663.6_Missense_Mutation_p.R96Q|RP1-92O14.6_ENST00000436713.1_RNA	p.R96Q	NM_001001653.2|NM_201542.3	NP_001001653.1|NP_963836.2	Q96G25	MED8_HUMAN			4	330	-	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)	96					A9IZ91|A9IZ92|Q5JUY8|Q96FQ4	Missense_Mutation	SNP	ENST00000372457.4	37	c.287G>A	CCDS487.2	.	.	.	.	.	.	.	.	.	.	C	34	5.368594	0.95900	.	.	ENSG00000159479	ENST00000290663;ENST00000372457;ENST00000372455	.	.	.	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	D	0.84862	0.5566	M	0.86028	2.79	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.991;0.996	D	0.86187	0.1610	9	0.87932	D	0	0.7774	20.1184	0.97949	0.0:1.0:0.0:0.0	.	96;96	Q96G25;Q96G25-2	MED8_HUMAN;.	Q	96;96;7	.	ENSP00000290663:R96Q	R	-	2	0	MED8	43625240	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.738000	0.84966	2.769000	0.95229	0.655000	0.94253	CGG		0.498	MED8-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318959.1	NM_052877		6	128	0	0	0	0.021553	0	6	128					T	43852653	C	T	43852653	3	4	218	1	0	0	0	0	1	0	0	0	9453	652	23	2	642	2	MED8	1	43852653	Missense_Mutation	SNP	C	TCGA-HC-7748-01A-11D-2114-08		43852653	205397968	1	10048											
STIL	6491	broad.mit.edu	37	chr1	47717391	47717391	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtattaatatggagaaggCtgaatgggtcacaattattt	13	14	10	4	0	1	2	1	1	0	1	1	3	1	2	0	3	0	2	0	3	7	5			TCGA-HC-7748-01A-11D-2114-08	TCGA-HC-7748-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e10b6bea-f2b0-4473-be35-709908f6f57b	deaa52ae-c93d-44dd-a41e-2d3b8efb7f6d	g.chr1:47717391C>A	ENST00000360380.3	-	18	3644	c.3281G>T	c.(3280-3282)aGc>aTc	p.S1094I	STIL_ENST00000371877.3_Missense_Mutation_p.S1095I|STIL_ENST00000396221.2_Missense_Mutation_p.S1077I|STIL_ENST00000337817.5_Missense_Mutation_p.S1094I|STIL_ENST00000243182.6_Missense_Mutation_p.S1094I	NM_001282936.1	NP_001269865.1	Q15468	STIL_HUMAN	SCL/TAL1 interrupting locus	1094					cell proliferation (GO:0008283)|determination of left/right symmetry (GO:0007368)|embryonic axis specification (GO:0000578)|floor plate development (GO:0033504)|forebrain development (GO:0030900)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|neural tube closure (GO:0001843)|neural tube development (GO:0021915)|notochord development (GO:0030903)|smoothened signaling pathway (GO:0007224)	centrosome (GO:0005813)|cytoplasm (GO:0005737)				central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	36		Acute lymphoblastic leukemia(5;0.00116)|all_hematologic(5;0.00444)				ATGGAGAAGGCTGAATGGGTC	0.368																																						ENST00000360380.3																			0				central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	36						c.(3280-3282)aGc>aTc		SCL/TAL1 interrupting locus							154	159	157					1																	47717391		2203	4300	6503	SO:0001583	missense	6491				cell proliferation|multicellular organismal development	centrosome|cytosol		g.chr1:47717391C>A	M74558	CCDS548.1, CCDS41329.1, CCDS72785.1, CCDS72786.1	1p32	2010-02-09	2005-11-29	2005-11-29	ENSG00000123473	ENSG00000123473			10879	protein-coding gene	gene with protein product		181590	"TAL1 (SCL) interrupting locus"	SIL		2209547	Standard	NM_003035		Approved	MCPH7	uc001crd.1	Q15468	OTTHUMG00000007851	ENST00000360380.3:c.3281G>T	1.37:g.47717391C>A	ENSP00000353544:p.Ser1094Ile					STIL_ENST00000396221.2_Missense_Mutation_p.S1077I|STIL_ENST00000337817.5_Missense_Mutation_p.S1094I|STIL_ENST00000243182.6_Missense_Mutation_p.S1094I|STIL_ENST00000371877.3_Missense_Mutation_p.S1095I	p.S1094I			Q15468	STIL_HUMAN			18	3644	-		Acute lymphoblastic leukemia(5;0.00116)|all_hematologic(5;0.00444)	1094					Q5T0C5|Q68CN9	Missense_Mutation	SNP	ENST00000360380.3	37	c.3281G>T	CCDS548.1	.	.	.	.	.	.	.	.	.	.	C	18.28	3.589263	0.66105	.	.	ENSG00000123473	ENST00000360380;ENST00000337817;ENST00000371877;ENST00000396221;ENST00000243182	T;T;T;T;T	0.19669	2.13;2.13;2.13;2.14;2.13	5.58	4.66	0.58398	.	0.627824	0.17545	N	0.170372	T	0.25195	0.0612	L	0.43152	1.355	0.23043	N	0.998381	D;D;D	0.59767	0.986;0.986;0.986	P;P;P	0.51016	0.656;0.656;0.656	T	0.10177	-1.0641	10	0.62326	D	0.03	-5.5869	7.4688	0.27336	0.0:0.7023:0.1394:0.1583	.	1077;1095;1094	E9PSF2;Q15468-2;Q15468	.;.;STIL_HUMAN	I	1094;1094;1095;1077;1094	ENSP00000353544:S1094I;ENSP00000337367:S1094I;ENSP00000360944:S1095I;ENSP00000379523:S1077I;ENSP00000243182:S1094I	ENSP00000243182:S1094I	S	-	2	0	STIL	47489978	0.999000	0.42202	0.825000	0.32803	0.972000	0.66771	2.068000	0.41471	1.355000	0.45865	0.460000	0.39030	AGC		0.368	STIL-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000021649.2	NM_003035		9	209	1	0	0.00621372	0.058154	0.0067786	9	209					A	47717391	C	A	47717391	3	1	218	1	0	0	0	0	1	0	0	0	15281	797	28	5	586	5	STIL	1	47717391	Missense_Mutation	SNP	C	TCGA-HC-7748-01A-11D-2114-08	3864738	47717391	201533230	2	10049											
RPAP2	79871	broad.mit.edu	37	chr1	92789789	92789789	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	atgagtctttaccttttaggGgctcaggtacagccattaaa	11	13	9	8	0	2	1	1	1	1	0	2	1	2	1	2	3	3	2	2	3	5	6			TCGA-HC-7748-01A-11D-2114-08	TCGA-HC-7748-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e10b6bea-f2b0-4473-be35-709908f6f57b	deaa52ae-c93d-44dd-a41e-2d3b8efb7f6d	g.chr1:92789789G>C	ENST00000610020.1	+	8	1421	c.1312G>C	c.(1312-1314)Ggc>Cgc	p.G438R		NM_024813.2	NP_079089.2	Q8IXW5	RPAP2_HUMAN	RNA polymerase II associated protein 2	438					dephosphorylation of RNA polymerase II C-terminal domain (GO:0070940)|snRNA transcription (GO:0009301)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|nucleolus (GO:0005730)|nucleus (GO:0005634)	CTD phosphatase activity (GO:0008420)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	22		all_lung(203;0.0565)|Lung NSC(277;0.152)|Glioma(108;0.222)		all cancers(265;0.00647)|GBM - Glioblastoma multiforme(16;0.0234)|Epithelial(280;0.115)		ACCTTTTAGGGGCTCAGGTAC	0.413																																						ENST00000370343.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	22						c.(1312-1314)Ggc>Cgc		RNA polymerase II associated protein 2							66	69	68					1																	92789789		2203	4300	6503	SO:0001583	missense	79871					integral to membrane|nucleus	metal ion binding|phosphoprotein phosphatase activity	g.chr1:92789789G>C	AK023212	CCDS740.1	1p22.1	2014-01-28	2007-07-26	2007-07-26	ENSG00000122484	ENSG00000122484			25791	protein-coding gene	gene with protein product		611476	"chromosome 1 open reading frame 82"	C1orf82		17643375	Standard	NM_024813		Approved	FLJ13150	uc001dot.2	Q8IXW5	OTTHUMG00000010288	ENST00000610020.1:c.1312G>C	1.37:g.92789789G>C	ENSP00000476948:p.Gly438Arg						p.G438R	NM_024813.2	NP_079089.2	Q8IXW5	RPAP2_HUMAN		all cancers(265;0.00647)|GBM - Glioblastoma multiforme(16;0.0234)|Epithelial(280;0.115)	8	1421	+		all_lung(203;0.0565)|Lung NSC(277;0.152)|Glioma(108;0.222)	438					C9JKB5|Q49AS7|Q9H8Y2	Missense_Mutation	SNP	ENST00000610020.1	37	c.1312G>C	CCDS740.1	.	.	.	.	.	.	.	.	.	.	G	13.22	2.171916	0.38315	.	.	ENSG00000122484	ENST00000370343;ENST00000394482	.	.	.	5.72	1.66	0.24008	.	0.319877	0.37393	N	0.002104	T	0.19248	0.0462	L	0.47716	1.5	0.40731	D	0.982740	P	0.39216	0.664	B	0.36030	0.216	T	0.03374	-1.1043	8	0.52906	T	0.07	-0.0261	6.9164	0.24361	0.2523:0.0:0.6361:0.1116	.	438	Q8IXW5	RPAP2_HUMAN	R	438	.	ENSP00000359368:G438R	G	+	1	0	RPAP2	92562377	0.647000	0.27304	0.229000	0.23960	0.980000	0.70556	0.820000	0.27323	0.327000	0.23409	0.655000	0.94253	GGC		0.413	RPAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028368.2	NM_024813		23	74	0	0	0	0.062417	0	23	74					C	92789789	G	C	92789789	3	2	218	1	0	0	0	0	1	0	0	0	13542	1232	43	5	1342	5	RPAP2	1	92789789	Missense_Mutation	SNP	G	TCGA-HC-7748-01A-11D-2114-08	45072398	92789789	156460832	3	10050											
CACNA1E	777	broad.mit.edu	37	chr1	181702058	181702058	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcaggtctgccagccaggaaCgcagtctggatgaagccatg	10	6	14	11	1	2	1	0	1	2	0	2	3	2	3	3	3	4	2	3	3	2	0			TCGA-HC-7748-01A-11D-2114-08	TCGA-HC-7748-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e10b6bea-f2b0-4473-be35-709908f6f57b	deaa52ae-c93d-44dd-a41e-2d3b8efb7f6d	g.chr1:181702058C>T	ENST00000367573.2	+	20	2836	c.2836C>T	c.(2836-2838)Cgc>Tgc	p.R946C	CACNA1E_ENST00000360108.3_Missense_Mutation_p.R927C|CACNA1E_ENST00000358338.5_Missense_Mutation_p.R878C|CACNA1E_ENST00000357570.5_Missense_Mutation_p.R897C|CACNA1E_ENST00000367567.4_Missense_Mutation_p.R553C|CACNA1E_ENST00000526775.1_Missense_Mutation_p.R927C|CACNA1E_ENST00000367570.1_Missense_Mutation_p.R946C	NM_001205293.1	NP_001192222.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	946					calcium ion import (GO:0070509)|energy reserve metabolic process (GO:0006112)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|voltage-gated calcium channel activity (GO:0005245)			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						CAGCCAGGAACGCAGTCTGGA	0.627																																						ENST00000526775.1																			0				NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						c.(2779-2781)Cgc>Tgc		calcium channel, voltage-dependent, R type, alpha 1E subunit							72	80	77					1																	181702058		2154	4265	6419	SO:0001583	missense	777				energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr1:181702058C>T	AK096563	CCDS53443.1, CCDS55664.1, CCDS55665.1	1q25.3	2013-01-10	2007-02-16		ENSG00000198216	ENSG00000198216		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels", "EF-hand domain containing"	1392	protein-coding gene	gene with protein product		601013		CACNL1A6		8388125, 16382099	Standard	NM_001205293		Approved	Cav2.3, BII, CACH6	uc009wxt.3	Q15878	OTTHUMG00000037301	ENST00000367573.2:c.2836C>T	1.37:g.181702058C>T	ENSP00000356545:p.Arg946Cys					CACNA1E_ENST00000367570.1_Missense_Mutation_p.R946C|CACNA1E_ENST00000358338.5_Missense_Mutation_p.R878C|CACNA1E_ENST00000367573.2_Missense_Mutation_p.R946C|CACNA1E_ENST00000367567.4_Missense_Mutation_p.R553C|CACNA1E_ENST00000360108.3_Missense_Mutation_p.R927C|CACNA1E_ENST00000357570.5_Missense_Mutation_p.R897C	p.R927C	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN			19	2944	+			946					B1AM12|B1AM13|B1AM14|Q14580|Q14581	Missense_Mutation	SNP	ENST00000367573.2	37	c.2779C>T	CCDS55664.1	.	.	.	.	.	.	.	.	.	.	C	15.82	2.945695	0.53079	.	.	ENSG00000198216	ENST00000367570;ENST00000526775;ENST00000357570;ENST00000358338;ENST00000367567;ENST00000360108;ENST00000367573	D;D;D;D;D;D;D	0.96554	-3.97;-3.98;-3.98;-3.98;-4.05;-3.99;-3.98	4.03	4.03	0.46877	.	1.154780	0.06001	N	0.647875	D	0.92237	0.7538	N	0.08118	0	0.40202	D	0.977524	D;D;D	0.63880	0.987;0.993;0.987	P;P;P	0.47705	0.555;0.548;0.555	D	0.87399	0.2368	10	0.72032	D	0.01	.	7.2332	0.26055	0.2366:0.6061:0.1572:0.0	.	927;946;946	Q15878-2;Q15878;Q15878-3	.;CAC1E_HUMAN;.	C	946;927;897;878;553;927;946	ENSP00000356542:R946C;ENSP00000434814:R927C;ENSP00000350183:R897C;ENSP00000351101:R878C;ENSP00000356539:R553C;ENSP00000353222:R927C;ENSP00000356545:R946C	ENSP00000350183:R897C	R	+	1	0	CACNA1E	179968681	0.996000	0.38824	1.000000	0.80357	0.776000	0.43924	0.548000	0.23314	2.534000	0.85438	0.555000	0.69702	CGC		0.627	CACNA1E-003	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090793.2	NM_000721		25	99	0	0	0	0.083992	0	25	99					T	181702058	C	T	181702058	3	4	218	1	0	0	0	0	1	0	0	0	2542	536	19	1	2914	1	CACNA1E	1	181702058	Missense_Mutation	SNP	C	TCGA-HC-7748-01A-11D-2114-08	88912269	181702058	67548563	4	10051											
PPIG	9360	broad.mit.edu	37	chr2	170493058	170493058	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aagaaagttaaagaccataaAtctaacagcaaagagagaga	23	5	8	5	0	1	4	0	0	1	4	1	6	1	4	1	0	2	2	1	0	8	3			TCGA-HC-7748-01A-11D-2114-08	TCGA-HC-7748-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e10b6bea-f2b0-4473-be35-709908f6f57b	deaa52ae-c93d-44dd-a41e-2d3b8efb7f6d	g.chr2:170493058A>G	ENST00000260970.3	+	14	1510	c.1290A>G	c.(1288-1290)aaA>aaG	p.K430K	PPIG_ENST00000448752.2_Silent_p.K430K|PPIG_ENST00000409714.3_Silent_p.K415K|PPIG_ENST00000482772.1_3'UTR	NM_004792.2	NP_004783.2	Q13427	PPIG_HUMAN	peptidylprolyl isomerase G (cyclophilin G)	430					protein folding (GO:0006457)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	cyclosporin A binding (GO:0016018)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|poly(A) RNA binding (GO:0044822)			NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(17)|ovary(2)|stomach(1)|urinary_tract(1)	43					L-Proline(DB00172)	AAGACCATAAATCTAACAGCA	0.328																																						ENST00000260970.3																			0				NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(17)|ovary(2)|stomach(1)|urinary_tract(1)	43						c.(1288-1290)aaA>aaG		peptidylprolyl isomerase G (cyclophilin G)	L-Proline(DB00172)						50	51	51					2																	170493058		2190	4285	6475	SO:0001819	synonymous_variant	9360				protein folding|RNA splicing	nuclear matrix|nuclear speck	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity	g.chr2:170493058A>G	X99717	CCDS2235.1	2q31.1	2010-07-23	2006-01-12		ENSG00000138398	ENSG00000138398	6.1.1.16		14650	protein-coding gene	gene with protein product	"SR-related CTD-associated factor 10"	606093	"peptidyl-prolyl isomerase G (cyclophilin G)"			8973360, 9153302	Standard	NM_004792		Approved	CARS-Cyp, SRCyp, SCAF10	uc002uez.3	Q13427	OTTHUMG00000132206	ENST00000260970.3:c.1290A>G	2.37:g.170493058A>G						PPIG_ENST00000448752.2_Silent_p.K430K|PPIG_ENST00000482772.1_3'UTR|PPIG_ENST00000409714.3_Silent_p.K415K	p.K430K	NM_004792.2	NP_004783.2	Q13427	PPIG_HUMAN			14	1510	+			430					D3DPC5|D3DPC6|O00706|Q53R40|Q53SN4|Q96DG9	Silent	SNP	ENST00000260970.3	37	c.1290A>G	CCDS2235.1																																																																																				0.328	PPIG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255264.2			11	32	0	0	0	0.09319	0	11	32					G	170493058	A	G	170493058	2	3	218	1	0	0	0	0	0	0	0	1	12324	98	4	4		4	PPIG	2	170493058	Silent	SNP	A	TCGA-HC-7748-01A-11D-2114-08		170493058	72706315	5	10052											
NRP2	8828	broad.mit.edu	37	chr2	206641226	206641226	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	accctaaccattaagctagaGcaagaccgtggctcgcactg	12	7	9	13	2	0	2	0	0	0	2	1	2	0	2	3	1	3	4	3	1	4	3			TCGA-HC-7748-01A-11D-2114-08	TCGA-HC-7748-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e10b6bea-f2b0-4473-be35-709908f6f57b	deaa52ae-c93d-44dd-a41e-2d3b8efb7f6d	g.chr2:206641226G>A	ENST00000357118.4	+	16	2713	c.2682G>A	c.(2680-2682)gaG>gaA	p.E894E	NRP2_ENST00000357785.5_Intron|NRP2_ENST00000540841.1_Intron|NRP2_ENST00000540178.1_Intron|NRP2_ENST00000412873.2_Intron|NRP2_ENST00000360409.3_Intron|NRP2_ENST00000272849.3_Silent_p.E899E	NM_201267.1	NP_957719	Q99435	NELL2_HUMAN	neuropilin 2	0						extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(14)|lung(19)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	52						TTAAGCTAGAGCAAGACCGTG	0.532											OREG0015157	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000357118.4																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(14)|lung(19)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	52						c.(2680-2682)gaG>gaA		neuropilin 2							92	88	89					2																	206641226		2203	4300	6503	SO:0001819	synonymous_variant	8828				angiogenesis|axon guidance|cell adhesion	integral to membrane|membrane fraction|plasma membrane	heparin binding|metal ion binding|semaphorin receptor activity|vascular endothelial growth factor receptor activity	g.chr2:206641226G>A	AF016098	CCDS2364.1, CCDS2365.1, CCDS46496.1, CCDS46497.1, CCDS46498.1, CCDS46499.1	2q33.3	2008-05-23			ENSG00000118257	ENSG00000118257			8005	protein-coding gene	gene with protein product		602070				9529250, 9331348	Standard	NM_003872		Approved	VEGF165R2	uc002vaw.3	O60462	OTTHUMG00000132893	ENST00000357118.4:c.2682G>A	2.37:g.206641226G>A			OREG0015157	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	2161	NRP2_ENST00000412873.2_Intron|NRP2_ENST00000360409.3_Intron|NRP2_ENST00000272849.3_Silent_p.E899E|NRP2_ENST00000540841.1_Intron|NRP2_ENST00000540178.1_Intron|NRP2_ENST00000357785.5_Intron	p.E894E	NM_201267.1	NP_957719.1	O60462	NRP2_HUMAN			16	2713	+			0					B7Z2U7|B7Z5Q4|B7Z9J5|B7Z9U3|Q96JS2	Silent	SNP	ENST00000357118.4	37	c.2682G>A	CCDS46498.1																																																																																				0.532	NRP2-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000336465.1			9	117	0	0	0	0.069234	0	9	117					A	206641226	G	A	206641226	2	1	218	1	0	0	0	0	0	0	0	1	10661	962	34	3		3	NRP2	2	206641226	Silent	SNP	G	TCGA-HC-7748-01A-11D-2114-08	36148168	206641226	36558147	6	10053											
ZNF502	91392	broad.mit.edu	37	chr3	44762640	44762640	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgagaaaagcttgcttttgAcctcaagccttgttacacgt	10	14	8	9	1	1	2	1	2	0	1	1	3	1	2	2	0	4	3	2	0	4	6			TCGA-HC-7748-01A-11D-2114-08	TCGA-HC-7748-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e10b6bea-f2b0-4473-be35-709908f6f57b	deaa52ae-c93d-44dd-a41e-2d3b8efb7f6d	g.chr3:44762640A>G	ENST00000296091.4	+	4	587	c.331A>G	c.(331-333)Acc>Gcc	p.T111A	ZNF502_ENST00000436624.2_Missense_Mutation_p.T111A|ZNF502_ENST00000449836.1_Missense_Mutation_p.T111A	NM_001134440.1|NM_001282880.1|NM_033210.4	NP_001127912.1|NP_001269809.1|NP_149987.2	Q8TBZ5	ZN502_HUMAN	zinc finger protein 502	111					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|endometrium(4)|large_intestine(8)|lung(4)|prostate(1)|urinary_tract(1)	19				BRCA - Breast invasive adenocarcinoma(193;0.00855)|KIRC - Kidney renal clear cell carcinoma(197;0.0471)|Kidney(197;0.0589)		CTTGCTTTTGACCTCAAGCCT	0.383																																						ENST00000296091.4																			0				NS(1)|endometrium(4)|large_intestine(8)|lung(4)|prostate(1)|urinary_tract(1)	19						c.(331-333)Acc>Gcc		zinc finger protein 502							62	63	63					3																	44762640		2203	4300	6503	SO:0001583	missense	91392				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr3:44762640A>G	AK022577	CCDS2719.1	3p21.32	2013-01-08			ENSG00000196653	ENSG00000196653		"Zinc fingers, C2H2-type"	23718	protein-coding gene	gene with protein product							Standard	NM_033210		Approved	FLJ14855, FLJ12515	uc003cnt.3	Q8TBZ5	OTTHUMG00000133086	ENST00000296091.4:c.331A>G	3.37:g.44762640A>G	ENSP00000296091:p.Thr111Ala					ZNF502_ENST00000449836.1_Missense_Mutation_p.T111A|ZNF502_ENST00000436624.2_Missense_Mutation_p.T111A	p.T111A	NM_001134440.1|NM_033210.4	NP_001127912.1|NP_149987.2	Q8TBZ5	ZN502_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00855)|KIRC - Kidney renal clear cell carcinoma(197;0.0471)|Kidney(197;0.0589)	4	587	+			111						Missense_Mutation	SNP	ENST00000296091.4	37	c.331A>G	CCDS2719.1	.	.	.	.	.	.	.	.	.	.	A	16.54	3.152365	0.57259	.	.	ENSG00000196653	ENST00000449836;ENST00000296091;ENST00000436624;ENST00000427783;ENST00000411443	T;T;T;T	0.50277	3.36;3.36;3.36;0.75	4.42	4.42	0.53409	.	.	.	.	.	T	0.27313	0.0670	N	0.08118	0	0.25918	N	0.983141	D	0.52996	0.957	P	0.44696	0.458	T	0.02070	-1.1219	9	0.18710	T	0.47	-5.666	7.4791	0.27393	0.8078:0.0:0.0:0.1922	.	111	Q8TBZ5	ZN502_HUMAN	A	111	ENSP00000397390:T111A;ENSP00000296091:T111A;ENSP00000406469:T111A;ENSP00000401717:T111A	ENSP00000296091:T111A	T	+	1	0	ZNF502	44737644	0.999000	0.42202	1.000000	0.80357	0.952000	0.60782	1.927000	0.40094	1.995000	0.58328	0.533000	0.62120	ACC		0.383	ZNF502-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256744.4	NM_033210		7	92	0	0	0	0.038147	0	7	92					G	44762640	A	G	44762640	3	3	218	1	0	0	0	0	1	0	0	0	17947	275	10	4	337	4	ZNF502	3	44762640	Missense_Mutation	SNP	A	TCGA-HC-7748-01A-11D-2114-08		44762640	153259790	7	10054											
CNGA1	1259	broad.mit.edu	37	chr4	47938768	47938768	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tactcagttagagcttccatGaggtcatcttttgagagaca	11	13	9	8	0	3	4	2	2	1	2	4	5	4	4	1	1	2	2	1	1	2	5			TCGA-HC-7748-01A-11D-2114-08	TCGA-HC-7748-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e10b6bea-f2b0-4473-be35-709908f6f57b	deaa52ae-c93d-44dd-a41e-2d3b8efb7f6d	g.chr4:47938768G>C	ENST00000514170.1	-	11	2062	c.1743C>G	c.(1741-1743)ctC>ctG	p.L581L	CNGA1_ENST00000544810.1_Silent_p.L581L|CNGA1_ENST00000420489.2_Silent_p.L581L|CNGA1_ENST00000402813.3_Silent_p.L650L|CNGA1_ENST00000358519.4_Silent_p.L581L			P29973	CNGA1_HUMAN	cyclic nucleotide gated channel alpha 1	581					phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|photoreceptor outer segment membrane (GO:0042622)|plasma membrane (GO:0005886)	cGMP binding (GO:0030553)|intracellular cAMP activated cation channel activity (GO:0005222)|intracellular cGMP activated cation channel activity (GO:0005223)|voltage-gated potassium channel activity (GO:0005249)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|urinary_tract(1)	28						GAGCTTCCATGAGGTCATCTT	0.408																																						ENST00000402813.3																			0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|urinary_tract(1)	28						c.(1948-1950)ctC>ctG		cyclic nucleotide gated channel alpha 1							132	129	130					4																	47938768		1975	4206	6181	SO:0001819	synonymous_variant	1259				response to stimulus|visual perception	integral to plasma membrane	cGMP binding|ion channel activity	g.chr4:47938768G>C	M84741	CCDS43226.1, CCDS47050.1	4p12	2013-02-14				ENSG00000198515		"Voltage-gated ion channels / Cyclic nucleotide-regulated channels"	2148	protein-coding gene	gene with protein product		123825		CNCG1, CNCG		7683629, 16382102	Standard	NM_000087		Approved	RCNC1, RCNCa, CNG1, RP49	uc003gxu.3	P29973		ENST00000514170.1:c.1743C>G	4.37:g.47938768G>C						CNGA1_ENST00000358519.4_Silent_p.L581L|CNGA1_ENST00000420489.2_Silent_p.L581L|CNGA1_ENST00000514170.1_Silent_p.L581L|CNGA1_ENST00000544810.1_Silent_p.L581L	p.L650L			P29973	CNGA1_HUMAN			10	2092	-			581					A8K7K6|J3KPZ2|Q16279|Q16485|Q4W5E3	Silent	SNP	ENST00000514170.1	37	c.1950C>G	CCDS43226.1																																																																																				0.408	CNGA1-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000372070.2	NM_000087		56	161	0	0	0	0.139131	0	56	161					C	47938768	G	C	47938768	2	2	218	1	0	0	0	0	0	0	0	1	3596	1277	45	5		5	CNGA1	4	47938768	Silent	SNP	G	TCGA-HC-7748-01A-11D-2114-08		47938768	143215508	8	10055											
LPHN3	23284	broad.mit.edu	37	chr4	62903460	62903460	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	attggctaggtacgaaaagaGtatgggaaatgcctgcgaac	14	8	13	6	2	0	1	0	0	0	1	0	4	0	2	1	3	4	3	1	3	7	4			TCGA-HC-7748-01A-11D-2114-08	TCGA-HC-7748-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e10b6bea-f2b0-4473-be35-709908f6f57b	deaa52ae-c93d-44dd-a41e-2d3b8efb7f6d	g.chr4:62903460G>A	ENST00000514591.1	+	23	3728	c.3399G>A	c.(3397-3399)gaG>gaA	p.E1133E	LPHN3_ENST00000511324.1_Silent_p.E1192E|LPHN3_ENST00000507164.1_Silent_p.E1192E|LPHN3_ENST00000514157.1_Silent_p.E1124E|LPHN3_ENST00000504896.1_Silent_p.E1133E|LPHN3_ENST00000507625.1_Silent_p.E1192E|LPHN3_ENST00000512091.2_Silent_p.E1133E|LPHN3_ENST00000506720.1_Silent_p.E1201E|LPHN3_ENST00000514996.1_Silent_p.E1124E|LPHN3_ENST00000545650.1_Silent_p.E1133E|LPHN3_ENST00000506746.1_Silent_p.E1192E|LPHN3_ENST00000508946.1_Silent_p.E1133E|LPHN3_ENST00000506700.1_Silent_p.E1124E|LPHN3_ENST00000509896.1_Silent_p.E1201E|LPHN3_ENST00000508693.1_Silent_p.E1201E			Q9HAR2	LPHN3_HUMAN	latrophilin 3	1111					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|G-protein coupled receptor activity (GO:0004930)			breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						TACGAAAAGAGTATGGGAAAT	0.388																																						ENST00000512091.1																			0				breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						c.(3397-3399)gaG>gaA		latrophilin 3							131	130	131					4																	62903460		1912	4146	6058	SO:0001819	synonymous_variant	23284				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding	g.chr4:62903460G>A	AB018311	CCDS54768.1	4q13.1	2014-08-08				ENSG00000150471		"-", "GPCR / Class B : Orphans"	20974	protein-coding gene	gene with protein product						10994649	Standard	NM_015236		Approved	KIAA0768, LEC3	uc010ihh.3	Q9HAR2		ENST00000514591.1:c.3399G>A	4.37:g.62903460G>A						LPHN3_ENST00000508693.1_Silent_p.E1201E|LPHN3_ENST00000509896.1_Silent_p.E1201E|LPHN3_ENST00000506700.1_Silent_p.E1124E|LPHN3_ENST00000506720.1_Silent_p.E1201E|LPHN3_ENST00000514591.1_Silent_p.E1133E|LPHN3_ENST00000511324.1_Silent_p.E1192E|LPHN3_ENST00000514157.1_Silent_p.E1124E|LPHN3_ENST00000545650.1_Silent_p.E1133E|LPHN3_ENST00000506746.1_Silent_p.E1192E|LPHN3_ENST00000514996.1_Silent_p.E1124E|LPHN3_ENST00000508946.1_Silent_p.E1133E|LPHN3_ENST00000507164.1_Silent_p.E1192E|LPHN3_ENST00000504896.1_Silent_p.E1133E|LPHN3_ENST00000507625.1_Silent_p.E1192E	p.E1133E			Q9HAR2	LPHN3_HUMAN			23	4146	+			1111					E9PE04|O94867|Q9NWK5	Silent	SNP	ENST00000514591.1	37	c.3399G>A	CCDS54768.1	.	.	.	.	.	.	.	.	.	.	G	7.743	0.701735	0.15172	.	.	ENSG00000150471	ENST00000502815	.	.	.	5.19	1.12	0.20585	.	.	.	.	.	T	0.57315	0.2045	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.50591	-0.8810	4	.	.	.	.	9.1986	0.37244	0.5326:0.0:0.4674:0.0	.	.	.	.	I	582	.	.	V	+	1	0	LPHN3	62586055	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	1.084000	0.30828	0.226000	0.20979	0.650000	0.86243	GTA		0.388	LPHN3-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000361765.1			5	64	0	0	0	0.014758	0	5	64					A	62903460	G	A	62903460	2	1	218	1	0	0	0	0	0	0	0	1	8917	1020	36	3		3	LPHN3	4	62903460	Silent	SNP	G	TCGA-HC-7748-01A-11D-2114-08	14964692	62903460	128250816	9	10056											
ADAMTS16	170690	broad.mit.edu	37	chr5	5190127	5190127	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgcagaccacaccttaagtaGcttctgccagtggcagtctg	9	9	10	13	1	2	1	0	0	2	1	2	1	2	1	3	1	2	4	3	1	2	3			TCGA-HC-7748-01A-11D-2114-08	TCGA-HC-7748-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e10b6bea-f2b0-4473-be35-709908f6f57b	deaa52ae-c93d-44dd-a41e-2d3b8efb7f6d	g.chr5:5190127G>A	ENST00000274181.7	+	7	1229	c.1091G>A	c.(1090-1092)aGc>aAc	p.S364N	ADAMTS16_ENST00000511368.1_Missense_Mutation_p.S364N	NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	364	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				branching involved in ureteric bud morphogenesis (GO:0001658)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						ACCTTAAGTAGCTTCTGCCAG	0.483																																						ENST00000274181.7																			0				breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						c.(1090-1092)aGc>aAc		ADAM metallopeptidase with thrombospondin type 1 motif, 16							126	124	125					5																	5190127		2052	4215	6267	SO:0001583	missense	170690				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:5190127G>A	AJ315734	CCDS43299.1	5p15	2008-07-18	2005-08-19		ENSG00000145536	ENSG00000145536		"ADAM metallopeptidases with thrombospondin type 1 motif"	17108	protein-coding gene	gene with protein product		607510	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 16"			11867212	Standard	NM_139056		Approved	ADAMTS16s	uc003jdl.3	Q8TE57	OTTHUMG00000161663	ENST00000274181.7:c.1091G>A	5.37:g.5190127G>A	ENSP00000274181:p.Ser364Asn					ADAMTS16_ENST00000511368.1_Missense_Mutation_p.S364N	p.S364N	NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN			7	1229	+			364			Peptidase M12B.		C6G490|Q8IVE2	Missense_Mutation	SNP	ENST00000274181.7	37	c.1091G>A	CCDS43299.1	.	.	.	.	.	.	.	.	.	.	G	33	5.196745	0.94960	.	.	ENSG00000145536	ENST00000274181;ENST00000511368;ENST00000536857	D;D	0.86694	-2.16;-2.16	5.37	5.37	0.77165	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.000000	0.85682	D	0.000000	D	0.88735	0.6517	L	0.28694	0.88	0.80722	D	1	D;D;D	0.89917	1.0;0.957;0.965	D;P;P	0.87578	0.998;0.781;0.819	D	0.84290	0.0499	10	0.10377	T	0.69	.	17.9034	0.88911	0.0:0.0:1.0:0.0	.	364;364;364	Q8TE57;Q8TE57-2;Q2XQZ0	ATS16_HUMAN;.;.	N	364	ENSP00000274181:S364N;ENSP00000421631:S364N	ENSP00000274181:S364N	S	+	2	0	ADAMTS16	5243127	1.000000	0.71417	0.987000	0.45799	0.924000	0.55760	9.216000	0.95154	2.510000	0.84645	0.650000	0.86243	AGC		0.483	ADAMTS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365657.1	NM_139056		20	79	0	0	0	0.043863	0	20	79					A	5190127	G	A	5190127	3	1	218	1	0	0	0	0	1	0	0	0	261	971	34	3	1117	3	ADAMTS16	5	5190127	Missense_Mutation	SNP	G	TCGA-HC-7748-01A-11D-2114-08		5190127	175725133	10	10057											
FAM105A	54491	broad.mit.edu	37	chr5	14601484	14601487	+	Frame_Shift_Del	DEL	TTGA	TTGA	-																															cctcagtgtggaggcagaggTtgatttactcagttattgtg																										TCGA-HC-7748-01A-11D-2114-08	TCGA-HC-7748-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e10b6bea-f2b0-4473-be35-709908f6f57b	deaa52ae-c93d-44dd-a41e-2d3b8efb7f6d	g.chr5:14601484_14601487delTTGA	ENST00000274217.3	+	4	401_404	c.281_284delTTGA	c.(280-285)gttgatfs	p.VD94fs		NM_019018.2	NP_061891.1	Q9NUU6	F105A_HUMAN	family with sequence similarity 105, member A	94										large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11	Lung NSC(4;0.00592)					GAGGCAGAGGTTGATTTACTCAGT	0.426																																						ENST00000274217.3																			0				large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						c.(280-285)gtfs		family with sequence similarity 105, member A																																				SO:0001589	frameshift_variant	54491							g.chr5:14601484_14601487delTTGA		CCDS3884.1	5p15.2	2014-02-24			ENSG00000145569	ENSG00000145569		"OTU domain containing"	25629	protein-coding gene	gene with protein product						12477932	Standard	NM_019018		Approved	FLJ11127, NET20	uc003jfj.3	Q9NUU6	OTTHUMG00000131056	ENST00000274217.3:c.281_284delTTGA	5.37:g.14601484_14601487delTTGA	ENSP00000274217:p.Val94fs						p.VD94fs	NM_019018.2	NP_061891.1	Q9NUU6	F105A_HUMAN			4	401_404	+	Lung NSC(4;0.00592)		94					Q53H50|Q9H037	Frame_Shift_Del	DEL	ENST00000274217.3	37	c.281_284delTTGA	CCDS3884.1																																																																																				0.426	FAM105A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253710.1	NM_019018		11	59						11	59	---	---	---	---	-	14601487	TTGA	-	14601484	7	5	218	1	0	1	0	1	0	0	0	0	5387	1725	60	0	295	0	FAM105A	5	14601484	Frame_Shift_Del	DEL	TTGA	TCGA-HC-7748-01A-11D-2114-08	9411357	14601484	166313776	11	10058											
UBD	10537	broad.mit.edu	37	chr6	29523919	29523919	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	catcactgggcttcaccactTtcagggtaaggtggatggtc	8	11	12	10	0	3	0	3	0	0	0	4	1	3	1	1	5	0	2	1	5	1	3			TCGA-HC-7748-01A-11D-2114-08	TCGA-HC-7748-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e10b6bea-f2b0-4473-be35-709908f6f57b	deaa52ae-c93d-44dd-a41e-2d3b8efb7f6d	g.chr6:29523919T>C	ENST00000377050.4	-	2	459	c.236A>G	c.(235-237)aAa>aGa	p.K79R	GABBR1_ENST00000355973.3_3'UTR	NM_006398.3	NP_006389.2	O15205	UBD_HUMAN	ubiquitin D	79	Ubiquitin-like 1. {ECO:0000255|PROSITE- ProRule:PRU00214}.				aggresome assembly (GO:0070842)|myeloid dendritic cell differentiation (GO:0043011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|protein modification by small protein conjugation (GO:0032446)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|response to interferon-gamma (GO:0034341)|response to organonitrogen compound (GO:0010243)|response to tumor necrosis factor (GO:0034612)|ubiquitin-dependent protein catabolic process (GO:0006511)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	proteasome binding (GO:0070628)			kidney(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	6						CTTCACCACTTTCAGGGTAAG	0.527																																						ENST00000377050.4																			0				kidney(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	6						c.(235-237)aAa>aGa		ubiquitin D							65	70	68					6																	29523919		1510	2709	4219	SO:0001583	missense	10537				aggresome assembly|myeloid dendritic cell differentiation|negative regulation of mitotic prometaphase|positive regulation of apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein ubiquitination|response to interferon-gamma|response to tumor necrosis factor|ubiquitin-dependent protein catabolic process	aggresome|cytoplasm|nucleus	proteasome binding	g.chr6:29523919T>C	Y12653	CCDS4662.1	6p21.3	2008-04-11			ENSG00000213886	ENSG00000213886			18795	protein-coding gene	gene with protein product		606050				9368598, 8662070	Standard	NM_006398		Approved	FAT10	uc003nmo.3	O15205	OTTHUMG00000031289	ENST00000377050.4:c.236A>G	6.37:g.29523919T>C	ENSP00000366249:p.Lys79Arg					GABBR1_ENST00000355973.3_3'UTR	p.K79R	NM_006398.3	NP_006389.2	O15205	UBD_HUMAN			2	459	-			79			Ubiquitin 1.		B0UZT6|Q5STL2|Q5SUK2|Q96EC7	Missense_Mutation	SNP	ENST00000377050.4	37	c.236A>G	CCDS4662.1	.	.	.	.	.	.	.	.	.	.	T	2.771	-0.255774	0.05829	.	.	ENSG00000213886	ENST00000377050	T	0.71698	-0.59	5.38	0.279	0.15677	Ubiquitin supergroup (2);Ubiquitin (2);	0.000000	0.38164	U	0.001782	T	0.23249	0.0562	N	0.17764	0.52	0.80722	D	1	B	0.02656	0.0	B	0.08055	0.003	T	0.37641	-0.9697	10	0.02654	T	1	-19.6413	7.7271	0.28765	0.0:0.3512:0.0:0.6488	.	79	O15205	UBD_HUMAN	R	79	ENSP00000366249:K79R	ENSP00000366249:K79R	K	-	2	0	UBD	29631898	1.000000	0.71417	0.995000	0.50966	0.816000	0.46133	1.952000	0.40343	-0.175000	0.10725	-0.314000	0.08810	AAA		0.527	UBD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076628.3			13	41	0	0	0	0.11911	0	13	41					C	29523919	T	C	29523919	3	2	218	1	0	0	0	0	1	0	0	0	16840	1841	64	4	265	4	UBD	6	29523919	Missense_Mutation	SNP	T	TCGA-HC-7748-01A-11D-2114-08		29523919	141591148	12	10059											
EPB41L2	2037	broad.mit.edu	37	chr6	131216167	131216167	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	taggaaatttttaagattttCggccaagcaaaacgattgat	15	13	8	5	2	0	2	0	1	0	1	1	4	0	3	1	2	2	1	1	2	6	7	rs376962561		TCGA-HC-7748-01A-11D-2114-08	TCGA-HC-7748-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e10b6bea-f2b0-4473-be35-709908f6f57b	deaa52ae-c93d-44dd-a41e-2d3b8efb7f6d	g.chr6:131216167C>T	ENST00000337057.3	-	9	1510	c.1329G>A	c.(1327-1329)ccG>ccA	p.P443P	EPB41L2_ENST00000368128.2_Silent_p.P443P|EPB41L2_ENST00000527411.1_Silent_p.P443P|EPB41L2_ENST00000445890.2_Silent_p.P443P|EPB41L2_ENST00000392427.3_Silent_p.P443P|EPB41L2_ENST00000530481.1_Silent_p.P443P|EPB41L2_ENST00000527659.1_Silent_p.P443P|EPB41L2_ENST00000529208.1_Silent_p.P443P|EPB41L2_ENST00000525193.1_Silent_p.P443P|EPB41L2_ENST00000525271.1_Silent_p.P443P|EPB41L2_ENST00000528282.1_Silent_p.P443P	NM_001431.3	NP_001422.1	O43491	E41L2_HUMAN	erythrocyte membrane protein band 4.1-like 2	443	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				cortical actin cytoskeleton organization (GO:0030866)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|spectrin (GO:0008091)	structural molecule activity (GO:0005198)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(23)|prostate(1)|skin(2)	44	Breast(56;0.0639)			OV - Ovarian serous cystadenocarcinoma(155;0.0271)|GBM - Glioblastoma multiforme(226;0.0355)		TTAAGATTTTCGGCCAAGCAA	0.433																																						ENST00000337057.3																			0				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(23)|prostate(1)|skin(2)	44						c.(1327-1329)ccG>ccA		erythrocyte membrane protein band 4.1-like 2		C	,,,,	1,4405	2.1+/-5.4	0,1,2202	116	106	109		1329,1329,1329,1329,1329	-3.9	1	6		109	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	EPB41L2	NM_001135554.1,NM_001135555.2,NM_001199388.1,NM_001199389.1,NM_001431.3	,,,,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,,,,	443/674,443/674,443/853,443/853,443/1006	131216167	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	2037				cortical actin cytoskeleton organization	extrinsic to membrane|plasma membrane|spectrin	actin binding|structural molecule activity	g.chr6:131216167C>T	AF027299	CCDS5141.1, CCDS47474.1, CCDS56450.1, CCDS59037.1	6q23	2008-08-29			ENSG00000079819	ENSG00000079819			3379	protein-coding gene	gene with protein product		603237				9598318, 9828140	Standard	NM_001431		Approved	4.1-G	uc003qch.2	O43491	OTTHUMG00000015560	ENST00000337057.3:c.1329G>A	6.37:g.131216167C>T						EPB41L2_ENST00000527411.1_Silent_p.P443P|EPB41L2_ENST00000392427.3_Silent_p.P443P|EPB41L2_ENST00000525271.1_Silent_p.P443P|EPB41L2_ENST00000530481.1_Silent_p.P443P|EPB41L2_ENST00000525193.1_Silent_p.P443P|EPB41L2_ENST00000445890.2_Silent_p.P443P|EPB41L2_ENST00000529208.1_Silent_p.P443P|EPB41L2_ENST00000528282.1_Silent_p.P443P|EPB41L2_ENST00000527659.1_Silent_p.P443P|EPB41L2_ENST00000368128.2_Silent_p.P443P	p.P443P	NM_001431.3	NP_001422.1	O43491	E41L2_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.0271)|GBM - Glioblastoma multiforme(226;0.0355)	9	1510	-	Breast(56;0.0639)		443			FERM.		B4DHI8|E9PPD9|Q5T4F0|Q68DV2	Silent	SNP	ENST00000337057.3	37	c.1329G>A	CCDS5141.1																																																																																				0.433	EPB41L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042204.3			24	69	0	0	0	0.083992	0	24	69					T	131216167	C	T	131216167	2	4	218	1	0	0	0	0	0	0	0	1	5153	871	31	2		2	EPB41L2	6	131216167	Silent	SNP	C	TCGA-HC-7748-01A-11D-2114-08	101692248	131216167	39898900	13	10060											
TRIM4	89122	broad.mit.edu	37	chr7	99506411	99506411	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaaaactccgtgctgattcTcattcgctgactctttatct	8	16	6	11	2	3	3	1	3	3	0	6	3	4	3	1	0	2	2	1	0	3	4			TCGA-HC-7748-01A-11D-2114-08	TCGA-HC-7748-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e10b6bea-f2b0-4473-be35-709908f6f57b	deaa52ae-c93d-44dd-a41e-2d3b8efb7f6d	g.chr7:99506411T>C	ENST00000355947.2	-	4	721	c.592A>G	c.(592-594)Aga>Gga	p.R198G	TRIM4_ENST00000354241.5_Missense_Mutation_p.R172G|TRIM4_ENST00000349062.2_Missense_Mutation_p.R172G	NM_033017.3	NP_148977.2	Q9C037	TRIM4_HUMAN	tripartite motif containing 4	198					protein trimerization (GO:0070206)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1)	17	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)	Ovarian(593;0.238)				GTGCTGATTCTCATTCGCTGA	0.428																																						ENST00000355947.2																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1)	17						c.(592-594)Aga>Gga		tripartite motif containing 4							130	119	123					7																	99506411		2203	4300	6503	SO:0001583	missense	89122				protein trimerization	cytoplasm|plasma membrane	zinc ion binding	g.chr7:99506411T>C	AF220023	CCDS5678.1, CCDS5679.1	7q22-q31.1	2013-01-09	2011-01-25		ENSG00000146833	ENSG00000146833		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	16275	protein-coding gene	gene with protein product	"tripartite motif protein TRIM4", "tripartite motif protein 4"		"tripartite motif-containing 4"			11331580	Standard	NM_033017		Approved	RNF87	uc003use.3	Q9C037	OTTHUMG00000156648	ENST00000355947.2:c.592A>G	7.37:g.99506411T>C	ENSP00000348216:p.Arg198Gly					TRIM4_ENST00000349062.2_Missense_Mutation_p.R172G|TRIM4_ENST00000354241.5_Missense_Mutation_p.R172G	p.R198G	NM_033017.3	NP_148977.2	Q9C037	TRIM4_HUMAN			4	721	-	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)	Ovarian(593;0.238)	198					A4D298|Q75MK1|Q96F06|Q9C036	Missense_Mutation	SNP	ENST00000355947.2	37	c.592A>G	CCDS5679.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	14.20|14.20	2.464145|2.464145	0.43736|0.43736	.|.	.|.	ENSG00000146833|ENSG00000146833	ENST00000447480|ENST00000355947;ENST00000349062;ENST00000542799;ENST00000354241	.|T;T;T	.|0.04654	.|3.58;3.58;3.58	2.68|2.68	2.68|2.68	0.31781|0.31781	.|.	.|.	.|.	.|.	.|.	T|T	0.15869|0.15869	0.0382|0.0382	M|M	0.71581|0.71581	2.175|2.175	0.09310|0.09310	N|N	1|1	.|P;D;D	.|0.61080	.|0.941;0.989;0.981	.|P;D;D	.|0.72625	.|0.858;0.978;0.95	T|T	0.04976|0.04976	-1.0914|-1.0914	5|9	.|0.40728	.|T	.|0.16	.|.	7.2233|7.2233	0.26002|0.26002	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|172;172;198	.|Q9C037-3;Q9C037-2;Q9C037	.|.;.;TRIM4_HUMAN	G|G	73|198;172;28;172	.|ENSP00000348216:R198G;ENSP00000275736:R172G;ENSP00000346186:R172G	.|ENSP00000275736:R172G	E|R	-|-	2|1	0|2	TRIM4|TRIM4	99344347|99344347	0.001000|0.001000	0.12720|0.12720	0.002000|0.002000	0.10522|0.10522	0.831000|0.831000	0.47069|0.47069	0.774000|0.774000	0.26675|0.26675	1.494000|1.494000	0.48533|0.48533	0.528000|0.528000	0.53228|0.53228	GAG|AGA		0.428	TRIM4-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000345050.1	NM_033017		32	93	0	0	0	0.054565	0	32	93					C	99506411	T	C	99506411	3	2	218	1	0	0	0	0	1	0	0	0	16511	1559	54	4	926	4	TRIM4	7	99506411	Missense_Mutation	SNP	T	TCGA-HC-7748-01A-11D-2114-08		99506411	59632252	14	10061											
RP1L1	94137	broad.mit.edu	37	chr8	10468680	10468680	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgcacctgtggtctcgtcCgccaactcatatgtcatgag	7	11	10	13	2	3	1	2	1	1	0	5	1	4	1	3	1	2	2	3	1	2	1			TCGA-HC-7748-01A-11D-2114-08	TCGA-HC-7748-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e10b6bea-f2b0-4473-be35-709908f6f57b	deaa52ae-c93d-44dd-a41e-2d3b8efb7f6d	g.chr8:10468680C>T	ENST00000382483.3	-	4	3151	c.2928G>A	c.(2926-2928)gcG>gcA	p.A976A		NM_178857.5	NP_849188.4	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	976					cell projection organization (GO:0030030)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|visual perception (GO:0007601)	axoneme (GO:0005930)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|photoreceptor connecting cilium (GO:0032391)|photoreceptor outer segment (GO:0001750)				breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		TGGTCTCGTCCGCCAACTCAT	0.632																																						ENST00000382483.3																			0				breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148						c.(2926-2928)gcG>gcA		retinitis pigmentosa 1-like 1							53	58	56					8																	10468680		1951	4132	6083	SO:0001819	synonymous_variant	94137				intracellular signal transduction			g.chr8:10468680C>T	AY168346	CCDS43708.1	8p23.1	2011-12-06			ENSG00000183638	ENSG00000183638			15946	protein-coding gene	gene with protein product		608581				12634863	Standard	NM_178857		Approved	DCDC4B	uc003wtc.3	Q8IWN7	OTTHUMG00000163806	ENST00000382483.3:c.2928G>A	8.37:g.10468680C>T							p.A976A	NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN		COAD - Colon adenocarcinoma(149;0.0811)	4	3151	-			976					Q86SQ1|Q8IWN8|Q8IWN9|Q8IWP0|Q8IWP1|Q8IWP2	Silent	SNP	ENST00000382483.3	37	c.2928G>A	CCDS43708.1																																																																																				0.632	RP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375673.1			28	140	0	0	0	0.045705	0	28	140					T	10468680	C	T	10468680	2	4	218	1	0	0	0	0	0	0	0	1	13533	639	23	2		2	RP1L1	8	10468680	Silent	SNP	C	TCGA-HC-7748-01A-11D-2114-08		10468680	135895342	15	10062											
XKR4	114786	broad.mit.edu	37	chr8	56436598	56436598	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccccatcatctcgcccaccaCggattgaagaatcagtcatt	11	9	6	15	2	4	2	3	1	1	1	5	3	4	3	4	1	0	0	4	1	2	2	rs371310690		TCGA-HC-7748-01A-11D-2114-08	TCGA-HC-7748-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e10b6bea-f2b0-4473-be35-709908f6f57b	deaa52ae-c93d-44dd-a41e-2d3b8efb7f6d	g.chr8:56436598C>T	ENST00000327381.6	+	3	1865	c.1765C>T	c.(1765-1767)Cgg>Tgg	p.R589W		NM_052898.1	NP_443130.1	Q5GH76	XKR4_HUMAN	XK, Kell blood group complex subunit-related family, member 4	589						integral component of membrane (GO:0016021)				NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34			Epithelial(17;0.000117)|all cancers(17;0.000836)			TCGCCCACCACGGATTGAAGA	0.512																																						ENST00000327381.5																			0				NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34						c.(1765-1767)Cgg>Tgg		XK, Kell blood group complex subunit-related family, member 4		C	TRP/ARG	0,4406		0,0,2203	95	93	94		1765	4	1	8		94	1,8599	1.2+/-3.3	0,1,4299	no	missense	XKR4	NM_052898.1	101	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	589/651	56436598	1,13005	2203	4300	6503	SO:0001583	missense	114786					integral to membrane		g.chr8:56436598C>T	AY534241	CCDS34893.1	8q12.1	2006-01-12	2006-01-12		ENSG00000206579	ENSG00000206579			29394	protein-coding gene	gene with protein product			"X Kell blood group precursor-related family, member 4"				Standard	NM_052898		Approved	KIAA1889	uc003xsf.3	Q5GH76	OTTHUMG00000164288	ENST00000327381.6:c.1765C>T	8.37:g.56436598C>T	ENSP00000328326:p.Arg589Trp						p.R589W	NM_052898.1	NP_443130.1	Q5GH76	XKR4_HUMAN	Epithelial(17;0.000117)|all cancers(17;0.000836)		3	1865	+			589					Q96PZ8	Missense_Mutation	SNP	ENST00000327381.6	37	c.1765C>T	CCDS34893.1	.	.	.	.	.	.	.	.	.	.	C	14.25	2.479402	0.44044	0.0	1.16E-4	ENSG00000206579	ENST00000327381;ENST00000543752	D	0.85411	-1.98	5.96	3.97	0.46021	.	0.000000	0.85682	D	0.000000	D	0.90710	0.7085	M	0.67397	2.05	0.52501	D	0.999952	D	0.89917	1.0	D	0.76071	0.987	D	0.91680	0.5357	10	0.72032	D	0.01	-2.6322	14.0137	0.64513	0.4424:0.5576:0.0:0.0	.	589	Q5GH76	XKR4_HUMAN	W	589	ENSP00000328326:R589W	ENSP00000328326:R589W	R	+	1	2	XKR4	56599152	1.000000	0.71417	1.000000	0.80357	0.533000	0.34776	1.801000	0.38843	1.489000	0.48450	0.655000	0.94253	CGG		0.512	XKR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378129.2	NM_052898		30	75	0	0	0	0.125774	0	30	75					T	56436598	C	T	56436598	3	4	218	1	0	0	0	0	1	0	0	0	17430	527	19	1	1775	1	XKR4	8	56436598	Missense_Mutation	SNP	C	TCGA-HC-7748-01A-11D-2114-08	45967918	56436598	89927424	16	10063											
CA3	761	broad.mit.edu	37	chr8	86352079	86352079	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tgatggtggctctgccaagaCcatcctgaataatgggaaga	12	9	12	8	0	1	4	0	2	1	2	2	5	2	5	3	3	1	1	3	3	4	1			TCGA-HC-7748-01A-11D-2114-08	TCGA-HC-7748-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e10b6bea-f2b0-4473-be35-709908f6f57b	deaa52ae-c93d-44dd-a41e-2d3b8efb7f6d	g.chr8:86352079C>A	ENST00000285381.2	+	2	256	c.173C>A	c.(172-174)aCc>aAc	p.T58N	RP11-317J10.2_ENST00000521761.1_RNA|RP11-317J10.2_ENST00000517697.1_RNA	NM_005181.3	NP_005172.1	P07451	CAH3_HUMAN	carbonic anhydrase III, muscle specific	58					bicarbonate transport (GO:0015701)|one-carbon metabolic process (GO:0006730)|response to ethanol (GO:0045471)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	carbonate dehydratase activity (GO:0004089)|nickel cation binding (GO:0016151)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23					Acetazolamide(DB00819)|Zonisamide(DB00909)	TCTGCCAAGACCATCCTGAAT	0.453																																						ENST00000285381.2																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						c.(172-174)aCc>aAc		carbonic anhydrase III, muscle specific							112	95	101					8																	86352079		2203	4300	6503	SO:0001583	missense	761				one-carbon metabolic process	cytoplasm	carbonate dehydratase activity|zinc ion binding	g.chr8:86352079C>A	AJ006473	CCDS6238.1	8q21.2	2012-10-02					4.2.1.1	"Carbonic anhydrases"	1374	protein-coding gene	gene with protein product		114750				6221502	Standard	NM_005181		Approved	Car3, CAIII	uc003ydj.3	P07451		ENST00000285381.2:c.173C>A	8.37:g.86352079C>A	ENSP00000285381:p.Thr58Asn						p.T58N	NM_005181.3	NP_005172.1	P07451	CAH3_HUMAN			2	256	+			58					B2R867|B3KUC8|O60842	Missense_Mutation	SNP	ENST00000285381.2	37	c.173C>A	CCDS6238.1	.	.	.	.	.	.	.	.	.	.	C	12.53	1.965187	0.34659	.	.	ENSG00000164879	ENST00000285381;ENST00000426378	T	0.67345	-0.26	5.81	4.94	0.65067	Carbonic anhydrase, alpha-class, catalytic domain (4);	0.240380	0.49916	D	0.000123	T	0.61502	0.2352	L	0.45228	1.405	0.40767	D	0.983059	P	0.39311	0.667	B	0.42188	0.379	T	0.59129	-0.7512	10	0.22706	T	0.39	-17.6083	13.9647	0.64202	0.0:0.9277:0.0:0.0723	.	58	P07451	CAH3_HUMAN	N	58;42	ENSP00000285381:T58N	ENSP00000285381:T58N	T	+	2	0	CA3	86539331	1.000000	0.71417	1.000000	0.80357	0.707000	0.40811	0.903000	0.28475	1.464000	0.47987	-0.142000	0.14014	ACC		0.453	CA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381090.1	NM_005181		5	73	1	0	0.00116845	0.021553	0.00130431	5	73					A	86352079	C	A	86352079	3	1	218	1	0	0	0	0	1	0	0	0	2517	507	18	5	179	5	CA3	8	86352079	Missense_Mutation	SNP	C	TCGA-HC-7748-01A-11D-2114-08	29915481	86352079	60011943	17	10064											
PAPPA	5069	broad.mit.edu	37	chr9	119109476	119109476	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccttccagtgccgtcaccctGcacaattgaaaggtatcaag	11	9	8	13	1	2	1	2	1	0	0	3	1	3	1	4	1	2	2	4	1	4	3			TCGA-HC-7748-01A-11D-2114-08	TCGA-HC-7748-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e10b6bea-f2b0-4473-be35-709908f6f57b	deaa52ae-c93d-44dd-a41e-2d3b8efb7f6d	g.chr9:119109476G>T	ENST00000328252.3	+	15	4321	c.3952G>T	c.(3952-3954)Gca>Tca	p.A1318S	PAPPA_ENST00000534838.1_Missense_Mutation_p.A356S	NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A, pappalysin 1	1318	Sushi 2. {ECO:0000255|PROSITE- ProRule:PRU00302}.				cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|female pregnancy (GO:0007565)|response to follicle-stimulating hormone (GO:0032354)|response to glucocorticoid (GO:0051384)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)	endopeptidase activity (GO:0004175)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						CCGTCACCCTGCACAATTGAA	0.537																																						ENST00000328252.3																			0				NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						c.(3952-3954)Gca>Tca		pregnancy-associated plasma protein A, pappalysin 1							136	101	113					9																	119109476		2203	4300	6503	SO:0001583	missense	5069				cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding	g.chr9:119109476G>T		CCDS6813.1	9q33.1	2014-03-05			ENSG00000182752	ENSG00000182752			8602	protein-coding gene	gene with protein product	"insulin-like growth factor-dependent IGF binding protein-4 protease", "aspecific BCL2 ARE-binding protein 2", "differentially placenta 1 expressed protein"	176385				7679961	Standard	NM_002581		Approved	PAPP-A, PAPPA1, IGFBP-4ase, PAPA, ASBABP2, DIPLA1	uc004bjn.3	Q13219	OTTHUMG00000021045	ENST00000328252.3:c.3952G>T	9.37:g.119109476G>T	ENSP00000330658:p.Ala1318Ser					PAPPA_ENST00000534838.1_Missense_Mutation_p.A356S	p.A1318S	NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN			15	4321	+			1318			Sushi 2.		B1AMF9|Q08371|Q68G52|Q9UDK7	Missense_Mutation	SNP	ENST00000328252.3	37	c.3952G>T	CCDS6813.1	.	.	.	.	.	.	.	.	.	.	G	25.7	4.660093	0.88154	.	.	ENSG00000182752	ENST00000328252;ENST00000534838	T;T	0.23754	1.89;1.89	5.86	4.96	0.65561	Complement control module (2);Sushi/SCR/CCP (3);	0.045342	0.85682	N	0.000000	T	0.55609	0.1931	M	0.84326	2.69	0.80722	D	1	P;D	0.89917	0.513;1.0	B;D	0.87578	0.103;0.998	T	0.63488	-0.6626	10	0.66056	D	0.02	-11.0021	16.4197	0.83754	0.0:0.0:0.8675:0.1325	.	356;1318	F5GZ19;Q13219	.;PAPP1_HUMAN	S	1318;356	ENSP00000330658:A1318S;ENSP00000441461:A356S	ENSP00000330658:A1318S	A	+	1	0	PAPPA	118149297	1.000000	0.71417	0.927000	0.36925	0.803000	0.45373	7.953000	0.87836	1.467000	0.48044	0.655000	0.94253	GCA		0.537	PAPPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055546.1	NM_002581		5	59	1	0	0.000602214	0.014758	0.000688245	5	59					T	119109476	G	T	119109476	3	4	218	1	0	0	0	0	1	0	0	0	11432	1319	46	5	4010	5	PAPPA	9	119109476	Missense_Mutation	SNP	G	TCGA-HC-7748-01A-11D-2114-08		119109476	22103955	18	10065											
NTM	50863	broad.mit.edu	37	chr11	132177583	132177583	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cgttaccggttttcccgcagCggttggctttgtgagtgaag	5	13	14	9	4	0	2	0	2	0	0	1	2	1	2	2	3	2	5	2	3	2	5			TCGA-HC-7748-01A-11D-2114-08	TCGA-HC-7748-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e10b6bea-f2b0-4473-be35-709908f6f57b	deaa52ae-c93d-44dd-a41e-2d3b8efb7f6d	g.chr11:132177583C>T	ENST00000374786.1	+	4	1006	c.527C>T	c.(526-528)gCg>gTg	p.A176V	NTM_ENST00000374791.3_Splice_Site_p.A176V|NTM_ENST00000427481.2_Splice_Site_p.A167V|NTM_ENST00000539799.1_Splice_Site_p.A176V|NTM_ENST00000374784.1_Splice_Site_p.A176V|NTM_ENST00000425719.2_Splice_Site_p.A176V|NTM_ENST00000474900.1_3'UTR	NM_001144058.1|NM_016522.2	NP_001137530.1|NP_057606.1	Q9P121	NTRI_HUMAN	neurotrimin	176	Ig-like C2-type 2.				cell adhesion (GO:0007155)|neuron recognition (GO:0008038)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(9)|lung(30)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	56						TTTCCCGCAGCGGTTGGCTTT	0.463																																						ENST00000374786.1																			0				breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(9)|lung(30)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	56						c.e4-1		neurotrimin							87	85	86					11																	132177583		2201	4297	6498	SO:0001630	splice_region_variant	50863				cell adhesion|neuron recognition	anchored to membrane|plasma membrane		g.chr11:132177583C>T	AF126426	CCDS8491.1, CCDS41733.1, CCDS44777.1, CCDS44778.1	11q25	2013-01-11			ENSG00000182667	ENSG00000182667		"Immunoglobulin superfamily / I-set domain containing"	17941	protein-coding gene	gene with protein product	"neurotrimin", "IgLON family member 2"	607938				7891157	Standard	NM_001048209		Approved	HNT, NTRI, IGLON2	uc001qgq.3	Q9P121	OTTHUMG00000066364	ENST00000374786.1:c.527-1C>T	11.37:g.132177583C>T						NTM_ENST00000374784.1_Splice_Site_p.A176_splice|NTM_ENST00000425719.2_Splice_Site_p.A176_splice|NTM_ENST00000427481.2_Splice_Site_p.A167_splice|NTM_ENST00000474900.1_3'UTR|NTM_ENST00000374791.3_Splice_Site_p.A176_splice|NTM_ENST00000539799.1_Splice_Site_p.A176_splice	p.A176_splice	NM_001144058.1|NM_016522.2	NP_001137530.1|NP_057606.1	Q9P121	NTRI_HUMAN			4	1006	+			176			Ig-like C2-type 2.		A0MTT2|Q6UXJ3|Q86VJ9	Splice_Site	SNP	ENST00000374786.1	37	c.526_splice	CCDS8491.1	.	.	.	.	.	.	.	.	.	.	C	15.68	2.906007	0.52333	.	.	ENSG00000182667	ENST00000374791;ENST00000539799;ENST00000550167;ENST00000427481;ENST00000374786;ENST00000425719;ENST00000374784	T;T;T;T;T;T;T	0.67698	-0.28;-0.28;-0.28;-0.28;-0.28;-0.28;-0.28	5.62	5.62	0.85841	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.102694	0.64402	D	0.000003	T	0.68274	0.2983	L	0.45470	1.425	0.49687	D	0.999817	P;P;P;P;B;P	0.46142	0.782;0.782;0.741;0.782;0.23;0.873	B;P;B;B;B;B	0.46659	0.418;0.523;0.294;0.206;0.063;0.348	T	0.65047	-0.6263	9	.	.	.	.	20.0185	0.97487	0.0:1.0:0.0:0.0	.	176;167;176;176;176;176	B7Z1Z5;B7Z1I4;Q9P121-4;Q9P121;Q9P121-3;Q9P121-2	.;.;.;NTRI_HUMAN;.;.	V	176;176;167;167;176;176;176	ENSP00000363923:A176V;ENSP00000437668:A176V;ENSP00000448104:A167V;ENSP00000416320:A167V;ENSP00000363918:A176V;ENSP00000396722:A176V;ENSP00000363916:A176V	.	A	+	2	0	NTM	131682793	0.912000	0.30974	0.991000	0.47740	0.148000	0.21650	2.071000	0.41500	2.809000	0.96659	0.467000	0.42956	GCG		0.463	NTM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000141937.1	NM_016522	Missense_Mutation	10	58	0	0	0	0.069234	0	10	58					T	132177583	C	T	132177583	5	4	218	1	0	0	0	0	0	0	1	0	10699	782	27	1	627	1	NTM	11	132177583	Splice_Site	SNP	C	TCGA-HC-7748-01A-11D-2114-08		132177583	2828933	19	10066											
FOXJ2	55810	broad.mit.edu	37	chr12	8197495	8197495	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caactttcaggatctaagctGgtccttccgcaacctctata	10	12	6	13	1	3	0	1	0	2	0	5	1	5	1	3	2	3	2	3	2	5	5			TCGA-HC-7748-01A-11D-2114-08	TCGA-HC-7748-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e10b6bea-f2b0-4473-be35-709908f6f57b	deaa52ae-c93d-44dd-a41e-2d3b8efb7f6d	g.chr12:8197495G>C	ENST00000162391.3	+	6	1903	c.758G>C	c.(757-759)tGg>tCg	p.W253S	FOXJ2_ENST00000428177.2_Missense_Mutation_p.W253S	NM_018416.2	NP_060886.1	Q9P0K8	FOXJ2_HUMAN	forkhead box J2	253					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)	nucleolus (GO:0005730)|nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)			autonomic_ganglia(1)|large_intestine(2)|lung(6)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	16				Kidney(36;0.0944)		GATCTAAGCTGGTCCTTCCGC	0.502																																						ENST00000162391.3																			0				autonomic_ganglia(1)|large_intestine(2)|lung(6)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	16						c.(757-759)tGg>tCg		forkhead box J2							188	180	183					12																	8197495		2203	4300	6503	SO:0001583	missense	55810				embryo development|organ development|pattern specification process|positive regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|tissue development	nucleolus|transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding	g.chr12:8197495G>C	AF155132	CCDS8587.1	12p13.31	2006-12-15				ENSG00000065970		"Forkhead boxes"	24818	protein-coding gene	gene with protein product						10777590, 10966786	Standard	NM_018416		Approved	FHX	uc001qtu.3	Q9P0K8		ENST00000162391.3:c.758G>C	12.37:g.8197495G>C	ENSP00000162391:p.Trp253Ser					FOXJ2_ENST00000428177.2_Missense_Mutation_p.W253S	p.W253S	NM_018416.2	NP_060886.1	Q9P0K8	FOXJ2_HUMAN		Kidney(36;0.0944)	6	1903	+			253					A0AVK4|B2RMP3|Q96PS9|Q9NSN5	Missense_Mutation	SNP	ENST00000162391.3	37	c.758G>C	CCDS8587.1	.	.	.	.	.	.	.	.	.	.	G	11.16	1.555853	0.27827	.	.	ENSG00000065970	ENST00000162391;ENST00000428177	D;D	0.94537	-3.26;-3.45	5.67	5.67	0.87782	.	0.115136	0.40222	N	0.001145	D	0.94039	0.8090	L	0.51422	1.61	0.58432	D	0.999996	P;D	0.56035	0.61;0.974	B;P	0.50659	0.19;0.647	D	0.92054	0.5651	10	0.20519	T	0.43	.	17.2631	0.87078	0.0:0.0:1.0:0.0	.	253;253	Q9P0K8;Q9P0K8-2	FOXJ2_HUMAN;.	S	253	ENSP00000162391:W253S;ENSP00000403411:W253S	ENSP00000162391:W253S	W	+	2	0	FOXJ2	8088762	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	5.578000	0.67450	2.681000	0.91329	0.491000	0.48974	TGG		0.502	FOXJ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400088.1	NM_018416		40	156	0	0	0	0.11126	0	40	156					C	8197495	G	C	8197495	3	2	218	1	0	0	0	0	1	0	0	0	6012	1357	47	5	776	5	FOXJ2	12	8197495	Missense_Mutation	SNP	G	TCGA-HC-7748-01A-11D-2114-08		8197495	125654400	20	10067											
CLEC4A	50856	broad.mit.edu	37	chr12	8290795	8290795	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgcgttgtgctaaattttcGtaaatcacccaaaagatggg	12	12	9	8	2	1	1	1	0	0	1	2	1	1	1	1	1	2	3	1	1	6	5	rs375140919		TCGA-HC-7748-01A-11D-2114-08	TCGA-HC-7748-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e10b6bea-f2b0-4473-be35-709908f6f57b	deaa52ae-c93d-44dd-a41e-2d3b8efb7f6d	g.chr12:8290795G>A	ENST00000229332.5	+	6	873	c.626G>A	c.(625-627)cGt>cAt	p.R209H	CLEC4A_ENST00000352620.3_Missense_Mutation_p.R176H|CLEC4A_ENST00000360500.3_Missense_Mutation_p.R170H|CLEC4A_ENST00000345999.3_Missense_Mutation_p.R137H	NM_016184.3|NM_194447.2|NM_194450.2	NP_057268.1|NP_919429.2|NP_919432.1	Q9UMR7	CLC4A_HUMAN	C-type lectin domain family 4, member A	209	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|innate immune response (GO:0045087)	integral component of plasma membrane (GO:0005887)	carbohydrate binding (GO:0030246)|transmembrane signaling receptor activity (GO:0004888)			cervix(1)|endometrium(3)|large_intestine(2)|lung(4)|prostate(1)	11				Kidney(36;0.0915)		CTAAATTTTCGTAAATCACCC	0.433													g|||	1	0.000199681	0	0	5008	,	,		-128	0		0	False		,,,				2504	0.001					ENST00000229332.5																			0				cervix(1)|endometrium(3)|large_intestine(2)|lung(4)|prostate(1)	11						c.(625-627)cGt>cAt		C-type lectin domain family 4, member A		G	HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	172	149	156		626,509,410,527	-6	0	12		156	0,8600		0,0,4300	no	missense,missense,missense,missense	CLEC4A	NM_016184.3,NM_194447.2,NM_194448.2,NM_194450.2	29,29,29,29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign,benign,benign,benign	209/238,170/199,137/166,176/205	8290795	1,13005	2203	4300	6503	SO:0001583	missense	50856				cell adhesion|cell surface receptor linked signaling pathway|innate immune response	integral to plasma membrane	sugar binding|transmembrane receptor activity	g.chr12:8290795G>A	AJ133532	CCDS8590.1, CCDS8591.1, CCDS8592.1, CCDS41745.1	12p13	2005-02-09	2005-02-09	2005-02-09	ENSG00000111729	ENSG00000111729		"C-type lectin domain containing"	13257	protein-coding gene	gene with protein product		605306	"C-type (calcium dependent, carbohydrate-recognition domain) lectin, superfamily member 6"	CLECSF6		10438934	Standard	NM_016184		Approved	DCIR, DDB27	uc001qtz.1	Q9UMR7	OTTHUMG00000168571	ENST00000229332.5:c.626G>A	12.37:g.8290795G>A	ENSP00000229332:p.Arg209His					CLEC4A_ENST00000360500.3_Missense_Mutation_p.R170H|CLEC4A_ENST00000352620.3_Missense_Mutation_p.R176H|CLEC4A_ENST00000345999.3_Missense_Mutation_p.R137H	p.R209H	NM_016184.3|NM_194447.2|NM_194450.2	NP_057268.1|NP_919429.2|NP_919432.1	Q9UMR7	CLC4A_HUMAN		Kidney(36;0.0915)	6	873	+			209			C-type lectin.		Q17R69|Q8WXW9|Q9H2Z9|Q9NS33|Q9UI34	Missense_Mutation	SNP	ENST00000229332.5	37	c.626G>A	CCDS8590.1	.	.	.	.	.	.	.	.	.	.	G	7.922	0.738849	0.15642	2.27E-4	0.0	ENSG00000111729	ENST00000229332;ENST00000345999;ENST00000352620;ENST00000360500	T;T;T;T	0.17213	2.29;2.29;2.29;2.29	3.0	-6.0	0.02206	C-type lectin fold (1);C-type lectin, conserved site (1);C-type lectin-like (1);C-type lectin (3);	2.476500	0.01943	N	0.042020	T	0.05547	0.0146	N	0.11106	0.095	0.09310	N	1	B;B;P;B	0.35411	0.103;0.103;0.5;0.126	B;B;B;B	0.29716	0.021;0.06;0.106;0.036	T	0.24728	-1.0152	10	0.09084	T	0.74	.	0.8766	0.01225	0.4398:0.1383:0.2083:0.2136	.	170;137;176;209	Q9UMR7-3;Q9UMR7-4;Q9UMR7-2;Q9UMR7	.;.;.;CLC4A_HUMAN	H	209;137;176;170	ENSP00000229332:R209H;ENSP00000344646:R137H;ENSP00000247243:R176H;ENSP00000353690:R170H	ENSP00000229332:R209H	R	+	2	0	CLEC4A	8182062	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.884000	0.04166	-1.684000	0.01443	-0.198000	0.12761	CGT		0.433	CLEC4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400257.1	NM_194450		7	99	0	0	0	0.02938	0	7	99					A	8290795	G	A	8290795	3	1	218	1	0	0	0	0	1	0	0	0	3512	1145	40	1	648	1	CLEC4A	12	8290795	Missense_Mutation	SNP	G	TCGA-HC-7748-01A-11D-2114-08	93300	8290795	125561100	21	10068											
KSR2	283455	broad.mit.edu	37	chr12	117969491	117969491	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctgggaagatgaactgctgcTtgtatttgtagtagtgggat	9	14	14	4	0	0	2	0	1	0	1	0	4	0	4	0	2	3	5	0	2	5	5			TCGA-HC-7748-01A-11D-2114-08	TCGA-HC-7748-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e10b6bea-f2b0-4473-be35-709908f6f57b	deaa52ae-c93d-44dd-a41e-2d3b8efb7f6d	g.chr12:117969491T>G	ENST00000339824.5	-	11	2436	c.1709A>C	c.(1708-1710)aAg>aCg	p.K570T	KSR2_ENST00000545002.1_5'UTR|KSR2_ENST00000302438.5_Missense_Mutation_p.K267T|KSR2_ENST00000425217.1_Missense_Mutation_p.K541T			Q6VAB6	KSR2_HUMAN	kinase suppressor of ras 2	570					intracellular signal transduction (GO:0035556)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GAACTGCTGCTTGTATTTGTA	0.502																																						ENST00000425217.1																			0				NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						c.(1621-1623)aAg>aCg		kinase suppressor of ras 2							96	102	100					12																	117969491		2001	4168	6169	SO:0001583	missense	283455				intracellular signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity	g.chr12:117969491T>G	AY345972	CCDS61250.1	12q24.22-q24.23	2014-08-12			ENSG00000171435	ENSG00000171435			18610	protein-coding gene	gene with protein product		610737				12471243	Standard	NM_173598		Approved	FLJ25965	uc001two.2	Q6VAB6	OTTHUMG00000169020	ENST00000339824.5:c.1709A>C	12.37:g.117969491T>G	ENSP00000339952:p.Lys570Thr					KSR2_ENST00000545002.1_5'UTR|KSR2_ENST00000302438.5_Missense_Mutation_p.K267T|KSR2_ENST00000339824.5_Missense_Mutation_p.K570T	p.K541T	NM_173598.4	NP_775869.3	Q6VAB6	KSR2_HUMAN			11	1676	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		570			Pro-rich.		A0PJT2|Q3B828|Q8N775	Missense_Mutation	SNP	ENST00000339824.5	37	c.1622A>C		.	.	.	.	.	.	.	.	.	.	T	19.32	3.805229	0.70682	.	.	ENSG00000171435	ENST00000425217;ENST00000339824;ENST00000302438;ENST00000542378	T;T;D	0.86030	-1.2;-1.21;-2.06	4.66	3.52	0.40303	.	0.046197	0.85682	D	0.000000	D	0.85044	0.5607	L	0.51422	1.61	0.50813	D	0.999895	D	0.57257	0.979	P	0.53102	0.718	D	0.83885	0.0281	10	0.56958	D	0.05	.	9.1947	0.37220	0.0:0.0885:0.0:0.9115	.	570	Q6VAB6	KSR2_HUMAN	T	541;570;267;242	ENSP00000389715:K541T;ENSP00000339952:K570T;ENSP00000305466:K267T	ENSP00000305466:K267T	K	-	2	0	KSR2	116453874	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.829000	0.55760	0.815000	0.34398	0.402000	0.26972	AAG		0.502	KSR2-001	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000401987.2	NM_173598		3	48	0	0	0	0.115264	0	3	48					G	117969491	T	G	117969491	3	3	218	1	0	0	0	0	1	0	0	0	8582	1609	56	5	1183	5	KSR2	12	117969491	Missense_Mutation	SNP	T	TCGA-HC-7748-01A-11D-2114-08	109678696	117969491	15882404	22	10069											
GPR109A	338442	broad.mit.edu	37	chr12	123186916	123186916	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cagcggttgatcaaagtggaGaagaagttgggaaaggatgg	14	7	17	3	1	1	3	1	1	0	2	1	6	1	5	0	5	1	2	0	5	4	2			TCGA-HC-7748-01A-11D-2114-08	TCGA-HC-7748-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e10b6bea-f2b0-4473-be35-709908f6f57b	deaa52ae-c93d-44dd-a41e-2d3b8efb7f6d	g.chr12:123186916G>A	ENST00000328880.5	-	1	974	c.915C>T	c.(913-915)ttC>ttT	p.F305F	HCAR1_ENST00000356987.2_Intron|RP11-324E6.6_ENST00000543611.1_lincRNA	NM_177551.3	NP_808219.1	Q8TDS4	HCAR2_HUMAN	hydroxycarboxylic acid receptor 2	305					negative regulation of lipid catabolic process (GO:0050995)|neutrophil apoptotic process (GO:0001781)|positive regulation of adiponectin secretion (GO:0070165)|positive regulation of neutrophil apoptotic process (GO:0033031)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	nicotinic acid receptor activity (GO:0070553)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(5)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	15					Niacin(DB00627)	TCAAAGTGGAGAAGAAGTTGG	0.532																																						ENST00000328880.5																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(5)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	15						c.(913-915)ttC>ttT		hydroxycarboxylic acid receptor 2	Mepenzolate(DB04843)|Niacin(DB00627)						92	76	82					12																	123186916		2203	4300	6503	SO:0001819	synonymous_variant	338442				negative regulation of lipid catabolic process|neutrophil apoptosis|positive regulation of adiponectin secretion|positive regulation of neutrophil apoptosis	integral to membrane|plasma membrane	nicotinic acid receptor activity|purinergic nucleotide receptor activity, G-protein coupled	g.chr12:123186916G>A	AY148884	CCDS9235.1	12q24.31	2012-08-08	2011-05-30	2011-05-30	ENSG00000182782	ENSG00000182782		"GPCR / Class A : Hydroxy-carboxylic acid receptors"	24827	protein-coding gene	gene with protein product	"niacin receptor 1"	609163	"G protein-coupled receptor 109A"	GPR109A		21167710, 12522134, 12646212, 19141678, 18983141, 21454438	Standard	NM_177551		Approved	HCA2, HM74A, PUMAG, Puma-g, NIACR1	uc001ucx.1	Q8TDS4	OTTHUMG00000162722	ENST00000328880.5:c.915C>T	12.37:g.123186916G>A						RP11-324E6.6_ENST00000543611.1_lincRNA|HCAR1_ENST00000356987.2_Intron	p.F305F	NM_177551.3	NP_808219.1	Q8TDS4	HCAR2_HUMAN			1	974	-			305					A0PJL5|A7LGG3	Silent	SNP	ENST00000328880.5	37	c.915C>T	CCDS9235.1																																																																																				0.532	HCAR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370202.1	NM_177551		17	61	0	0	0	0.0333	0	17	61					A	123186916	G	A	123186916	2	1	218	1	0	0	0	0	0	0	0	1	6625	933	33	3		3	GPR109A	12	123186916	Silent	SNP	G	TCGA-HC-7748-01A-11D-2114-08	5217425	123186916	10664979	23	10070											
SIAH3	283514	broad.mit.edu	37	chr13	46357972	46357972	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggggcaccaccacctccaggCggccttcccactggcaggag	7	4	13	17	1	0	0	0	0	0	0	2	1	2	1	6	6	0	2	6	6	0	1	rs376694319		TCGA-HC-7748-01A-11D-2114-08	TCGA-HC-7748-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e10b6bea-f2b0-4473-be35-709908f6f57b	deaa52ae-c93d-44dd-a41e-2d3b8efb7f6d	g.chr13:46357972C>T	ENST00000400405.2	-	2	462	c.356G>A	c.(355-357)cGc>cAc	p.R119H		NM_198849.2	NP_942146.2	Q8IW03	SIAH3_HUMAN	siah E3 ubiquitin protein ligase family member 3	119					multicellular organismal development (GO:0007275)|ubiquitin-dependent protein catabolic process (GO:0006511)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			large_intestine(3)|lung(7)|ovary(1)|skin(1)	12						CACCTCCAGGCGGCCTTCCCA	0.672																																						ENST00000400405.2																			0				large_intestine(3)|lung(7)|ovary(1)|skin(1)	12						c.(355-357)cGc>cAc		siah E3 ubiquitin protein ligase family member 3		T	HIS/ARG	1,4163		0,1,2081	59	66	64		356	1.3	1	13		64	0,8416		0,0,4208	no	missense	SIAH3	NM_198849.2	29	0,1,6289	TT,TC,CC		0.0,0.024,0.0079	benign	119/270	46357972	1,12579	2082	4208	6290	SO:0001583	missense	283514				multicellular organismal development|ubiquitin-dependent protein catabolic process	nucleus	metal ion binding	g.chr13:46357972C>T		CCDS41883.1	13q14.12	2012-02-23	2012-02-23		ENSG00000215475	ENSG00000215475			30553	protein-coding gene	gene with protein product		615609	"seven in absentia homolog 3 (Drosophila)"			12477932	Standard	NM_198849		Approved	FLJ39203	uc001vap.3	Q8IW03	OTTHUMG00000016862	ENST00000400405.2:c.356G>A	13.37:g.46357972C>T	ENSP00000383256:p.Arg119His						p.R119H	NM_198849.2	NP_942146.2	Q8IW03	SIAH3_HUMAN			2	462	-			119					B7ZBP0|Q8N8M6	Missense_Mutation	SNP	ENST00000400405.2	37	c.356G>A	CCDS41883.1	.	.	.	.	.	.	.	.	.	.	T	3.619	-0.077955	0.07184	2.4E-4	0.0	ENSG00000215475	ENST00000400405	T	0.26518	1.73	5.19	1.34	0.21922	Seven-in-absentia protein, TRAF-like domain (1);TRAF-like (1);	0.791174	0.11551	N	0.552757	T	0.07908	0.0198	N	0.00926	-1.1	0.18873	N	0.999989	B	0.02656	0.0	B	0.01281	0.0	T	0.40720	-0.9548	10	0.14656	T	0.56	-4.98	9.1497	0.36955	0.0:0.2887:0.0:0.7113	.	119	Q8IW03	SIAH3_HUMAN	H	119	ENSP00000383256:R119H	ENSP00000383256:R119H	R	-	2	0	SIAH3	45255973	1.000000	0.71417	0.995000	0.50966	0.914000	0.54420	2.421000	0.44688	-0.238000	0.09724	-1.327000	0.01280	CGC		0.672	SIAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044788.2	NM_198849		18	62	0	0	0	0.055883	0	18	62					T	46357972	C	T	46357972	3	4	218	1	0	0	0	0	1	0	0	0	14301	768	27	1	457	1	SIAH3	13	46357972	Missense_Mutation	SNP	C	TCGA-HC-7748-01A-11D-2114-08		46357972	68811906	24	10071											
ALDH1A3	220	broad.mit.edu	37	chr15	101425525	101425525	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtgggaaaaagtttgctacAtgtaacccttcaactcggga	13	10	10	8	1	1	0	1	0	0	0	2	2	1	2	1	2	4	3	1	2	5	4			TCGA-HC-7748-01A-11D-2114-08	TCGA-HC-7748-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e10b6bea-f2b0-4473-be35-709908f6f57b	deaa52ae-c93d-44dd-a41e-2d3b8efb7f6d	g.chr15:101425525A>C	ENST00000329841.5	+	2	685	c.153A>C	c.(151-153)acA>acC	p.T51T	RP11-66B24.8_ENST00000558568.1_lincRNA|ALDH1A3_ENST00000560555.1_3'UTR|ALDH1A3_ENST00000346623.6_Silent_p.T51T	NM_000693.2	NP_000684.2	P47895	AL1A3_HUMAN	aldehyde dehydrogenase 1 family, member A3	51					embryonic eye morphogenesis (GO:0048048)|face development (GO:0060324)|inner ear morphogenesis (GO:0042472)|locomotory behavior (GO:0007626)|neuromuscular process controlling balance (GO:0050885)|nucleus accumbens development (GO:0021768)|olfactory pit development (GO:0060166)|optic cup morphogenesis involved in camera-type eye development (GO:0002072)|positive regulation of apoptotic process (GO:0043065)|retinal metabolic process (GO:0042574)|retinoic acid biosynthetic process (GO:0002138)|retinoic acid metabolic process (GO:0042573)|retinol metabolic process (GO:0042572)|righting reflex (GO:0060013)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	aldehyde dehydrogenase (NAD) activity (GO:0004029)|aldehyde dehydrogenase [NAD(P)+] activity (GO:0004030)|NAD+ binding (GO:0070403)|protein homodimerization activity (GO:0042803)|thyroid hormone binding (GO:0070324)			NS(1)|central_nervous_system(2)|endometrium(3)|large_intestine(7)|lung(9)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	27	Lung NSC(78;0.00144)|all_lung(78;0.0018)|Melanoma(26;0.00852)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.0766)|Lung(145;0.103)		Vitamin A(DB00162)	AGTTTGCTACATGTAACCCTT	0.343																																						ENST00000329841.5																			0				NS(1)|central_nervous_system(2)|endometrium(3)|large_intestine(7)|lung(9)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	27						c.(151-153)acA>acC		aldehyde dehydrogenase 1 family, member A3	NADH(DB00157)|Vitamin A(DB00162)						100	100	100					15																	101425525		2203	4300	6503	SO:0001819	synonymous_variant	220				retinal metabolic process	cytoplasm	aldehyde dehydrogenase|protein homodimerization activity	g.chr15:101425525A>C	U07919	CCDS10389.1	15q26	2010-05-07			ENSG00000184254	ENSG00000184254	1.2.1.5	"Aldehyde dehydrogenases"	409	protein-coding gene	gene with protein product	"retinaldehyde dehydrogenase 3"	600463		ALDH6		7698756	Standard	XR_111558		Approved	RALDH3	uc002bwn.4	P47895	OTTHUMG00000149870	ENST00000329841.5:c.153A>C	15.37:g.101425525A>C						ALDH1A3_ENST00000560555.1_3'UTR|ALDH1A3_ENST00000346623.6_Silent_p.T51T	p.T51T	NM_000693.2	NP_000684.2	P47895	AL1A3_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.0766)|Lung(145;0.103)		2	685	+	Lung NSC(78;0.00144)|all_lung(78;0.0018)|Melanoma(26;0.00852)		51					Q6NT64	Silent	SNP	ENST00000329841.5	37	c.153A>C	CCDS10389.1																																																																																				0.343	ALDH1A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313620.2			3	65	0	0	0	0.115264	0	3	65					C	101425525	A	C	101425525	2	2	218	1	0	0	0	0	0	0	0	1	492	204	8	5		5	ALDH1A3	15	101425525	Silent	SNP	A	TCGA-HC-7748-01A-11D-2114-08		101425525	1105867	25	10072											
ZNF532	55205	broad.mit.edu	37	chr18	56585911	56585911	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gacattcagccagtttagccCgatctccagtgctgaagagt	10	10	10	11	1	2	2	1	1	1	1	3	4	2	2	3	0	3	2	3	0	2	3			TCGA-HC-7748-01A-11D-2114-08	TCGA-HC-7748-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e10b6bea-f2b0-4473-be35-709908f6f57b	deaa52ae-c93d-44dd-a41e-2d3b8efb7f6d	g.chr18:56585911C>T	ENST00000336078.4	+	4	1168	c.392C>T	c.(391-393)cCg>cTg	p.P131L	ZNF532_ENST00000591808.1_Missense_Mutation_p.P131L|ZNF532_ENST00000591083.1_Missense_Mutation_p.P131L|ZNF532_ENST00000591230.1_Missense_Mutation_p.P131L|ZNF532_ENST00000589288.1_Missense_Mutation_p.P131L	NM_018181.4	NP_060651.2	Q9HCE3	ZN532_HUMAN	zinc finger protein 532	131					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(14)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(4)|urinary_tract(1)	52						CAGTTTAGCCCGATCTCCAGT	0.498																																						ENST00000336078.4																			0				breast(5)|central_nervous_system(1)|cervix(2)|endometrium(14)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(4)|urinary_tract(1)	52						c.(391-393)cCg>cTg		zinc finger protein 532							115	99	104					18																	56585911		2203	4300	6503	SO:0001583	missense	55205				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr18:56585911C>T	AB046849	CCDS11969.1	18q21.32	2005-08-22			ENSG00000074657	ENSG00000074657		"Zinc fingers, C2H2-type"	30940	protein-coding gene	gene with protein product						10997877	Standard	XM_005266723		Approved	FLJ10697	uc002lho.3	Q9HCE3	OTTHUMG00000132759	ENST00000336078.4:c.392C>T	18.37:g.56585911C>T	ENSP00000338217:p.Pro131Leu					ZNF532_ENST00000589288.1_Missense_Mutation_p.P131L|ZNF532_ENST00000591808.1_Missense_Mutation_p.P131L|ZNF532_ENST00000591230.1_Missense_Mutation_p.P131L|ZNF532_ENST00000591083.1_Missense_Mutation_p.P131L	p.P131L	NM_018181.4	NP_060651.2	Q9HCE3	ZN532_HUMAN			4	1168	+			131					Q4G0V6|Q7L7Z7|Q96QR7|Q9NVJ6	Missense_Mutation	SNP	ENST00000336078.4	37	c.392C>T	CCDS11969.1	.	.	.	.	.	.	.	.	.	.	c	20.4	3.989991	0.74589	.	.	ENSG00000074657	ENST00000336078	T	0.05199	3.48	5.21	5.21	0.72293	.	0.000000	0.85682	D	0.000000	T	0.26340	0.0643	M	0.72894	2.215	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.00752	-1.1581	10	0.87932	D	0	-3.1915	18.3962	0.90499	0.0:1.0:0.0:0.0	.	131	Q9HCE3	ZN532_HUMAN	L	131	ENSP00000338217:P131L	ENSP00000338217:P131L	P	+	2	0	ZNF532	54736891	1.000000	0.71417	1.000000	0.80357	0.913000	0.54294	7.728000	0.84847	2.440000	0.82611	0.550000	0.68814	CCG		0.498	ZNF532-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256130.1	NM_018181		24	60	0	0	0	0.083992	0	24	60					T	56585911	C	T	56585911	3	4	218	1	0	0	0	0	1	0	0	0	17969	652	23	2	394	2	ZNF532	18	56585911	Missense_Mutation	SNP	C	TCGA-HC-7748-01A-11D-2114-08		56585911	21491337	26	10073											
EPHX3	79852	broad.mit.edu	37	chr19	15338333	15338333	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggatccaatgccctatgcctGgcaggatgtgggcctccaag	8	8	13	12	0	0	0	0	0	0	0	2	2	2	2	5	4	2	1	5	4	3	1			TCGA-HC-7748-01A-11D-2114-08	TCGA-HC-7748-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e10b6bea-f2b0-4473-be35-709908f6f57b	deaa52ae-c93d-44dd-a41e-2d3b8efb7f6d	g.chr19:15338333G>T	ENST00000221730.3	-	7	1218	c.998C>A	c.(997-999)cCa>cAa	p.P333Q	EPHX3_ENST00000602233.1_Missense_Mutation_p.P333Q|EPHX3_ENST00000435261.1_Missense_Mutation_p.P333Q	NM_024794.2	NP_079070.1	Q9H6B9	EPHX3_HUMAN	epoxide hydrolase 3	333						extracellular region (GO:0005576)	hydrolase activity (GO:0016787)			endometrium(1)|large_intestine(1)|lung(3)|pancreas(1)|skin(1)	7						CCCTATGCCTGGCAGGATGTG	0.617																																						ENST00000221730.3																			0				endometrium(1)|large_intestine(1)|lung(3)|pancreas(1)|skin(1)	7						c.(997-999)cCa>cAa		epoxide hydrolase 3							73	67	69					19																	15338333		2203	4300	6503	SO:0001583	missense	79852					extracellular region	hydrolase activity	g.chr19:15338333G>T	AK026061	CCDS12327.1	19p13.13	2011-10-05	2009-04-06	2009-04-06	ENSG00000105131	ENSG00000105131		"Abhydrolase domain containing"	23760	protein-coding gene	gene with protein product			"abhydrolase domain containing 9"	ABHD9			Standard	NM_024794		Approved	FLJ22408	uc002nap.3	Q9H6B9		ENST00000221730.3:c.998C>A	19.37:g.15338333G>T	ENSP00000221730:p.Pro333Gln					EPHX3_ENST00000602233.1_Missense_Mutation_p.P333Q|EPHX3_ENST00000435261.1_Missense_Mutation_p.P333Q	p.P333Q	NM_024794.2	NP_079070.1	Q9H6B9	EPHX3_HUMAN			7	1218	-			333					A3KMR3	Missense_Mutation	SNP	ENST00000221730.3	37	c.998C>A	CCDS12327.1	.	.	.	.	.	.	.	.	.	.	G	15.86	2.958325	0.53400	.	.	ENSG00000105131	ENST00000221730;ENST00000435261	T;T	0.72942	-0.7;-0.7	4.63	3.57	0.40892	.	0.105878	0.40222	N	0.001141	D	0.83285	0.5221	M	0.91140	3.18	0.44745	D	0.997741	D	0.53151	0.958	P	0.58210	0.835	D	0.85670	0.1294	10	0.66056	D	0.02	-7.0738	10.7701	0.46316	0.0:0.1913:0.8087:0.0	.	333	Q9H6B9	EPHX3_HUMAN	Q	333	ENSP00000221730:P333Q;ENSP00000410323:P333Q	ENSP00000221730:P333Q	P	-	2	0	EPHX3	15199333	1.000000	0.71417	0.818000	0.32626	0.474000	0.32979	3.673000	0.54591	1.152000	0.42452	0.549000	0.68633	CCA		0.617	EPHX3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465797.1	NM_024794		16	57	1	0	3.41278e-10	0.0333	4.09534e-10	16	57					T	15338333	G	T	15338333	3	4	218	1	0	0	0	0	1	0	0	0	5181	1348	47	5	88	5	EPHX3	19	15338333	Missense_Mutation	SNP	G	TCGA-HC-7748-01A-11D-2114-08		15338333	43790650	27	10074											
LSR	51599	broad.mit.edu	37	chr19	35757262	35757262	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgttgattgtgtcctcacagTgtatgccgccggcaaagcag	8	11	12	10	2	1	1	1	1	0	0	2	1	2	1	3	1	2	4	3	1	2	3			TCGA-HC-7748-01A-11D-2114-08	TCGA-HC-7748-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e10b6bea-f2b0-4473-be35-709908f6f57b	deaa52ae-c93d-44dd-a41e-2d3b8efb7f6d	g.chr19:35757262T>C	ENST00000361790.3	+	6	1082	c.923T>C	c.(922-924)cTg>cCg	p.L308P	USF2_ENST00000222305.3_5'Flank|USF2_ENST00000595068.1_5'Flank|USF2_ENST00000343550.5_5'Flank|AD000684.2_ENST00000602262.1_RNA|USF2_ENST00000379134.3_5'Flank|LSR_ENST00000360798.3_Splice_Site_p.V240A|LSR_ENST00000427250.1_Splice_Site_p.M152T|LSR_ENST00000602122.1_Splice_Site_p.L289P|LSR_ENST00000354900.3_Splice_Site_p.L289P|USF2_ENST00000594064.1_5'Flank|LSR_ENST00000347609.4_Splice_Site_p.L271P	NM_205834.3	NP_991403.1	Q86X29	LSR_HUMAN	lipolysis stimulated lipoprotein receptor	308				L -> R (in Ref. 4; AAB51178). {ECO:0000305}.	embryo development (GO:0009790)|liver development (GO:0001889)	chylomicron (GO:0042627)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|low-density lipoprotein particle (GO:0034362)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	13	all_lung(56;3.91e-09)|Lung NSC(56;5.64e-09)|Esophageal squamous(110;0.162)		Epithelial(14;1.33e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.29e-18)|all cancers(14;7.11e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417)			GTCCTCACAGTGTATGCCGCC	0.632																																						ENST00000602122.1																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	13						c.e5-1		lipolysis stimulated lipoprotein receptor							77	79	78					19																	35757262		2203	4300	6503	SO:0001630	splice_region_variant	51599				embryo development|liver development	chylomicron|integral to membrane|low-density lipoprotein particle|plasma membrane|very-low-density lipoprotein particle	receptor activity	g.chr19:35757262T>C	AF130366	CCDS12449.1, CCDS12450.1, CCDS12451.1, CCDS59376.1	19q13.12	2013-01-11			ENSG00000105699	ENSG00000105699		"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	29572	protein-coding gene	gene with protein product	"lipolysis-stimulated remnant", "immunoglobulin-like domain containing receptor 3"					10224102	Standard	NM_015925		Approved	LISCH7, ILDR3	uc002nyl.3	Q86X29		ENST00000361790.3:c.923-1T>C	19.37:g.35757262T>C						LSR_ENST00000354900.3_Splice_Site_p.L289_splice|LSR_ENST00000427250.1_Splice_Site_p.M152_splice|LSR_ENST00000361790.3_Splice_Site_p.L308_splice|LSR_ENST00000360798.3_Splice_Site_p.V240_splice|LSR_ENST00000347609.4_Splice_Site_p.L271_splice	p.L289_splice			Q86X29	LSR_HUMAN	Epithelial(14;1.33e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.29e-18)|all cancers(14;7.11e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417)		5	1353	+	all_lung(56;3.91e-09)|Lung NSC(56;5.64e-09)|Esophageal squamous(110;0.162)		308			Cys-rich.		A6NDW3|B4DKL4|E9PHD4|O00112|O00426|Q6ZT80|Q8NBM0|Q9BT33|Q9UQL3	Splice_Site	SNP	ENST00000361790.3	37	c.865_splice	CCDS12450.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	T|T|T	17.18|17.18|17.18	3.323341|3.323341|3.323341	0.60634|0.60634|0.60634	.|.|.	.|.|.	ENSG00000105699|ENSG00000105699|ENSG00000105699	ENST00000361790;ENST00000354900;ENST00000347609|ENST00000427250|ENST00000360798	T;T;T|T|T	0.62639|0.62498|0.58060	0.13;0.2;0.01|0.02|0.36	3.99|3.99|3.99	3.99|3.99|3.99	0.46301|0.46301|0.46301	.|.|.	0.273628|.|.	0.28841|.|.	N|.|.	0.013964|.|.	T|T|T	0.44265|0.44265|0.44265	0.1285|0.1285|0.1285	L|L|L	0.55481|0.55481|0.55481	1.735|1.735|1.735	0.35191|0.35191|0.35191	D|D|D	0.773404|0.773404|0.773404	D;D;D;D|.|P	0.89917|.|0.34955	1.0;0.998;0.997;0.996|.|0.477	D;D;D;D|.|B	0.91635|.|0.31101	0.999;0.959;0.91;0.935|.|0.124	T|T|T	0.55958|0.55958|0.55958	-0.8058|-0.8058|-0.8058	9|6|8	.|.|.	.|.|.	.|.|.	.|.|.	10.8921|10.8921|10.8921	0.47002|0.47002|0.47002	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.|.	271;289;289;308|.|240	Q86X29-2;Q86X29-3;E9PHD4;Q86X29|.|A6NDW3	.;.;.;LSR_HUMAN|.|.	P|T|A	308;289;271|152|240	ENSP00000354575:L308P;ENSP00000346976:L289P;ENSP00000262627:L271P|ENSP00000394479:M152T|ENSP00000354034:V240A	.|.|.	L|M|V	+|+|+	2|2|2	0|0|0	LSR|LSR|LSR	40449102|40449102|40449102	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	0.644000|0.644000|0.644000	0.29465|0.29465|0.29465	0.570000|0.570000|0.570000	0.35934|0.35934|0.35934	6.148000|6.148000|6.148000	0.71788|0.71788|0.71788	1.648000|1.648000|1.648000	0.50643|0.50643|0.50643	0.379000|0.379000|0.379000	0.24179|0.24179|0.24179	CTG|ATG|GTG		0.632	LSR-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465513.2	NM_015925	Missense_Mutation	29	100	0	0	0	0.054565	0	29	100					C	35757262	T	C	35757262	5	2	218	1	0	0	0	0	0	0	1	0	9064	1710	59	4	945	4	LSR	19	35757262	Splice_Site	SNP	T	TCGA-HC-7748-01A-11D-2114-08	20418929	35757262	23371721	28	10075											
KLK6	5653	broad.mit.edu	37	chr19	51466672	51466672	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tttggctgggcgtgccaggcGcaacagcatgatgtcctggt	6	10	15	10	2	0	1	0	1	0	0	1	1	1	1	2	4	3	3	2	4	1	1			TCGA-HC-7748-01A-11D-2114-08	TCGA-HC-7748-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e10b6bea-f2b0-4473-be35-709908f6f57b	deaa52ae-c93d-44dd-a41e-2d3b8efb7f6d	g.chr19:51466672G>A	ENST00000376851.3	-	4	770	c.331C>T	c.(331-333)Cgc>Tgc	p.R111C	KLK6_ENST00000391808.1_Missense_Mutation_p.R4C|CTB-147C22.8_ENST00000601506.1_RNA|KLK6_ENST00000594641.1_Missense_Mutation_p.R111C|KLK6_ENST00000310157.2_Missense_Mutation_p.R111C|KLK6_ENST00000376853.4_Intron|KLK6_ENST00000456750.2_Missense_Mutation_p.R4C	NM_001012964.1	NP_001012982.1	Q92876	KLK6_HUMAN	kallikrein-related peptidase 6	111	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				amyloid precursor protein metabolic process (GO:0042982)|central nervous system development (GO:0007417)|collagen catabolic process (GO:0030574)|hormone metabolic process (GO:0042445)|myelination (GO:0042552)|neuron death (GO:0070997)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)|protein autoprocessing (GO:0016540)|regulation of cell differentiation (GO:0045595)|regulation of neuron projection development (GO:0010975)|response to wounding (GO:0009611)|tissue regeneration (GO:0042246)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|intercellular bridge (GO:0045171)|microtubule cytoskeleton (GO:0015630)|mitochondrion (GO:0005739)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	serine-type endopeptidase activity (GO:0004252)	p.R111C(1)		endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|skin(4)	13		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00372)|GBM - Glioblastoma multiforme(134;0.00871)		CGTGCCAGGCGCAACAGCATG	0.612																																						ENST00000376851.3																			1	Substitution - Missense(1)	p.R111C(1)	large_intestine(1)	endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|skin(4)	13						c.(331-333)Cgc>Tgc		kallikrein-related peptidase 6							89	63	72					19																	51466672		2203	4300	6503	SO:0001583	missense	5653				amyloid precursor protein metabolic process|central nervous system development|collagen catabolic process|hormone metabolic process|myelination|positive regulation of G-protein coupled receptor protein signaling pathway|protein autoprocessing|proteolysis|regulation of cell differentiation|tissue regeneration	endoplasmic reticulum|extracellular region|microsome|mitochondrion|nucleolus	protein binding|serine-type endopeptidase activity	g.chr19:51466672G>A	U62801	CCDS12811.1, CCDS42599.1	19q13.3	2011-09-07	2006-10-27			ENSG00000167755		"Kallikreins", "Serine peptidases / Serine peptidases"	6367	protein-coding gene	gene with protein product		602652	"protease, serine, 18", "kallikrein 6 (neurosin, zyme)"	PRSS9, PRSS18		9003450, 16800724, 16800723	Standard	NM_002774		Approved	Bssp, Klk7, neurosin	uc002pui.3	Q92876		ENST00000376851.3:c.331C>T	19.37:g.51466672G>A	ENSP00000366047:p.Arg111Cys					KLK6_ENST00000391808.1_Missense_Mutation_p.R4C|KLK6_ENST00000456750.2_Missense_Mutation_p.R4C|KLK6_ENST00000376853.4_Intron|KLK6_ENST00000310157.2_Missense_Mutation_p.R111C|KLK6_ENST00000594641.1_Missense_Mutation_p.R111C|CTB-147C22.8_ENST00000601506.1_RNA	p.R111C	NM_001012964.1	NP_001012982.1	Q92876	KLK6_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00372)|GBM - Glioblastoma multiforme(134;0.00871)	4	770	-		all_neural(266;0.026)	111			Peptidase S1.		A6NJA1|A8MW09|Q6H301	Missense_Mutation	SNP	ENST00000376851.3	37	c.331C>T	CCDS12811.1	.	.	.	.	.	.	.	.	.	.	N	22.6	4.310413	0.81358	.	.	ENSG00000167755	ENST00000310157;ENST00000376851;ENST00000391808;ENST00000456750	D;D;D;D	0.90004	-2.6;-2.6;-2.6;-2.6	4.69	2.44	0.29823	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.185873	0.26723	N	0.022831	D	0.94115	0.8113	M	0.93016	3.37	0.09310	N	1	D;D	0.89917	1.0;0.999	D;P	0.74674	0.984;0.733	D	0.85886	0.1425	10	0.87932	D	0	.	5.8461	0.18667	0.0947:0.0:0.5992:0.3061	.	111;4	Q92876;Q92876-2	KLK6_HUMAN;.	C	111;111;4;4	ENSP00000309148:R111C;ENSP00000366047:R111C;ENSP00000375684:R4C;ENSP00000409241:R4C	ENSP00000309148:R111C	R	-	1	0	KLK6	56158484	0.458000	0.25760	0.429000	0.26710	0.895000	0.52256	1.511000	0.35801	1.200000	0.43188	0.486000	0.48141	CGC		0.612	KLK6-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465060.1	NM_002774		4	53	0	0	0	0.009096	0	4	53					A	51466672	G	A	51466672	3	1	218	1	0	0	0	0	1	0	0	0	8408	1087	38	1	415	1	KLK6	19	51466672	Missense_Mutation	SNP	G	TCGA-HC-7748-01A-11D-2114-08	15709410	51466672	7662311	29	10076											
ZCCHC3	85364	broad.mit.edu	37	chr20	279007	279007	+	Frame_Shift_Del	DEL	C	C	-																															aagacgctcttcatcctcttCcggaacgagacggtggacgt																										TCGA-HC-7748-01A-11D-2114-08	TCGA-HC-7748-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e10b6bea-f2b0-4473-be35-709908f6f57b	deaa52ae-c93d-44dd-a41e-2d3b8efb7f6d	g.chr20:279007delC	ENST00000382352.3	+	1	1271	c.780delC	c.(778-780)ttcfs	p.F260fs		NM_033089.6	NP_149080	Q9NUD5	ZCHC3_HUMAN	zinc finger, CCHC domain containing 3	260							poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(1)|lung(3)|prostate(2)	8		all_cancers(10;0.000209)|Lung NSC(37;0.0417)|all_lung(30;0.0713)|all_epithelial(17;0.0748)|Breast(17;0.231)	OV - Ovarian serous cystadenocarcinoma(29;0.149)			TCATCCTCTTCCGGAACGAGA	0.597																																						ENST00000382352.3																			0				endometrium(2)|large_intestine(1)|lung(3)|prostate(2)	8						c.(778-780)ttfs		zinc finger, CCHC domain containing 3							70	75	73					20																	279007		2132	4248	6380	SO:0001589	frameshift_variant	85364						nucleic acid binding|zinc ion binding	g.chr20:279007delC	AL034548	CCDS42844.1	20p13-p12.2	2014-04-10	2004-07-14	2004-07-14	ENSG00000177764	ENSG00000247315		"Zinc fingers, CCHC domain containing"	16230	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 99"	C20orf99			Standard	NM_033089		Approved	dJ1103G7.7	uc002wdf.3	Q9NUD5	OTTHUMG00000188280	ENST00000382352.3:c.780delC	20.37:g.279007delC	ENSP00000371789:p.Phe260fs						p.F260fs	NM_033089.6	NP_149080.2	Q9NUD5	ZCHC3_HUMAN	OV - Ovarian serous cystadenocarcinoma(29;0.149)		1	1271	+		all_cancers(10;0.000209)|Lung NSC(37;0.0417)|all_lung(30;0.0713)|all_epithelial(17;0.0748)|Breast(17;0.231)	260					Q3B7J3|Q6NT79	Frame_Shift_Del	DEL	ENST00000382352.3	37	c.780delC	CCDS42844.1																																																																																				0.597	ZCCHC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077447.1			25	74						25	74	---	---	---	---	-	279007	C	-	279007	7	5	218	1	0	1	0	1	0	0	0	0	17586	854	30	0	782	0	ZCCHC3	20	279007	Frame_Shift_Del	DEL	C	TCGA-HC-7748-01A-11D-2114-08		279007	62746513	30	10077											
CST5	1473	broad.mit.edu	37	chr20	23860160	23860160	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaccttgttgtactcgctgaTggcaaagtccagggcacact	9	10	11	11	1	0	1	0	1	0	0	2	2	1	1	2	2	1	5	2	2	2	3			TCGA-HC-7748-01A-11D-2114-08	TCGA-HC-7748-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e10b6bea-f2b0-4473-be35-709908f6f57b	deaa52ae-c93d-44dd-a41e-2d3b8efb7f6d	g.chr20:23860160T>C	ENST00000304710.4	-	1	227	c.154A>G	c.(154-156)Atc>Gtc	p.I52V		NM_001900.4	NP_001891.2	P28325	CYTD_HUMAN	cystatin D	52					negative regulation of endopeptidase activity (GO:0010951)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	cysteine-type endopeptidase inhibitor activity (GO:0004869)			breast(1)|kidney(1)|large_intestine(1)|lung(6)|skin(1)|stomach(1)	11						TACTCGCTGATGGCAAAGTCC	0.582																																						ENST00000304710.4																			0				breast(1)|kidney(1)|large_intestine(1)|lung(6)|skin(1)|stomach(1)	11						c.(154-156)Atc>Gtc		cystatin D							212	193	199					20																	23860160		2203	4300	6503	SO:0001583	missense	1473					extracellular region	cysteine-type endopeptidase inhibitor activity|protein binding	g.chr20:23860160T>C		CCDS13162.1	20p11.21	2008-04-15			ENSG00000170367	ENSG00000170367			2477	protein-coding gene	gene with protein product		123858				1939105	Standard	NM_001900		Approved		uc002wtr.1	P28325	OTTHUMG00000032089	ENST00000304710.4:c.154A>G	20.37:g.23860160T>C	ENSP00000307132:p.Ile52Val						p.I52V	NM_001900.4	NP_001891.2	P28325	CYTD_HUMAN			1	227	-			52					Q5JRF5|Q9UCA0	Missense_Mutation	SNP	ENST00000304710.4	37	c.154A>G	CCDS13162.1	.	.	.	.	.	.	.	.	.	.	t	0.004	-2.254846	0.00265	.	.	ENSG00000170367	ENST00000304710	T	0.23754	1.89	1.99	-3.98	0.04082	Proteinase inhibitor I25, cystatin (2);	0.642654	0.15330	N	0.268093	T	0.06872	0.0175	N	0.02685	-0.53	0.09310	N	1	B	0.18013	0.025	B	0.28849	0.095	T	0.27673	-1.0067	10	0.02654	T	1	.	4.0541	0.09808	0.0:0.3255:0.4067:0.2678	.	52	P28325	CYTD_HUMAN	V	52	ENSP00000307132:I52V	ENSP00000307132:I52V	I	-	1	0	CST5	23808160	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.707000	0.05041	-1.292000	0.02366	0.368000	0.22195	ATC		0.582	CST5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078355.2	NM_001900		8	244	0	0	0	0.047766	0	8	244					C	23860160	T	C	23860160	3	2	218	1	0	0	0	0	1	0	0	0	3975	1464	51	4	286	4	CST5	20	23860160	Missense_Mutation	SNP	T	TCGA-HC-7748-01A-11D-2114-08	23581153	23860160	39165360	31	10078											
SLC12A5	57468	broad.mit.edu	37	chr20	44672552	44672552	+	Frame_Shift_Del	DEL	G	G	-																															ctgtttggggcctgcattgaGggggtcgtcctgcgggacaa																								rs145624716		TCGA-HC-7748-01A-11D-2114-08	TCGA-HC-7748-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e10b6bea-f2b0-4473-be35-709908f6f57b	deaa52ae-c93d-44dd-a41e-2d3b8efb7f6d	g.chr20:44672552delG	ENST00000454036.2	+	11	1492	c.1443delG	c.(1441-1443)gagfs	p.E481fs	SLC12A5_ENST00000243964.3_Frame_Shift_Del_p.E458fs	NM_001134771.1	NP_001128243.1	Q9H2X9	S12A5_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 5	481					cellular ion homeostasis (GO:0006873)|chloride transmembrane transport (GO:1902476)|ion transport (GO:0006811)|learning (GO:0007612)|multicellular organism growth (GO:0035264)|potassium ion transport (GO:0006813)|response to drug (GO:0042493)|synaptic transmission (GO:0007268)|thermosensory behavior (GO:0040040)|transmembrane transport (GO:0055085)|transport (GO:0006810)	dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	CCTGCATTGAGGGGGTCGTCC	0.557																																						ENST00000454036.1																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80						c.(1441-1443)gafs		solute carrier family 12 (potassium/chloride transporter), member 5	Bumetanide(DB00887)|Potassium Chloride(DB00761)						121	115	117					20																	44672552		2203	4300	6503	SO:0001589	frameshift_variant	57468				potassium ion transport|sodium ion transport	integral to membrane	potassium:chloride symporter activity	g.chr20:44672552delG	AB033002	CCDS13391.1, CCDS46610.1	20q13.12	2013-05-22	2010-04-20		ENSG00000124140	ENSG00000124140		"Solute carriers"	13818	protein-coding gene	gene with protein product		606726					Standard	NM_020708		Approved	KIAA1176, KCC2	uc010zxl.1	Q9H2X9	OTTHUMG00000032638	ENST00000454036.2:c.1443delG	20.37:g.44672552delG	ENSP00000387694:p.Glu481fs					SLC12A5_ENST00000539566.1_Intron|SLC12A5_ENST00000243964.3_Frame_Shift_Del_p.E458fs	p.E481fs	NM_001134771.1	NP_001128243.1	Q9H2X9	S12A5_HUMAN			11	1519	+		Myeloproliferative disorder(115;0.0122)	481					A2RTX2|Q5VZ41|Q9H4Z0|Q9ULP4	Frame_Shift_Del	DEL	ENST00000454036.2	37	c.1443delG	CCDS46610.1																																																																																				0.557	SLC12A5-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000471538.1			8	187						8	187	---	---	---	---	-	44672552	G	-	44672552	7	5	218	1	0	1	0	1	0	0	0	0	14386	991	35	0	1541	0	SLC12A5	20	44672552	Frame_Shift_Del	DEL	G	TCGA-HC-7748-01A-11D-2114-08	20812392	44672552	18352968	32	10079											
SLC2A5	6518	broad.mit.edu	37	chr1	9099650	9099650	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acgttcacggccccggtgccGgccgtcacgtactgcacgtg	5	7	13	16	7	2	0	2	0	0	0	2	0	2	0	4	3	3	3	4	3	1	2			TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chr1:9099650G>A	ENST00000377424.4	-	8	1136	c.957C>T	c.(955-957)gcC>gcT	p.A319A	SLC2A5_ENST00000535586.1_Silent_p.A204A|SLC2A5_ENST00000536305.1_Silent_p.A260A	NM_003039.2	NP_003030.1	P22732	GTR5_HUMAN	solute carrier family 2 (facilitated glucose/fructose transporter), member 5	319					carbohydrate metabolic process (GO:0005975)|cellular response to fructose stimulus (GO:0071332)|fructose transport (GO:0015755)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	fructose transmembrane transporter activity (GO:0005353)|glucose transmembrane transporter activity (GO:0005355)			endometrium(6)|kidney(15)|large_intestine(6)|lung(4)|ovary(1)|pancreas(2)|prostate(1)|urinary_tract(1)	36	Ovarian(185;0.112)|all_lung(157;0.185)	all_epithelial(116;1.34e-15)|all_lung(118;9.46e-05)|Lung NSC(185;0.000172)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.00715)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;7.78e-07)|COAD - Colon adenocarcinoma(227;8.83e-05)|Kidney(185;0.000286)|KIRC - Kidney renal clear cell carcinoma(229;0.00103)|STAD - Stomach adenocarcinoma(132;0.0019)|BRCA - Breast invasive adenocarcinoma(304;0.00199)|READ - Rectum adenocarcinoma(331;0.0649)		CCCCGGTGCCGGCCGTCACGT	0.697																																						ENST00000377424.4																			0				endometrium(6)|kidney(15)|large_intestine(6)|lung(4)|ovary(1)|pancreas(2)|prostate(1)|urinary_tract(1)	36						c.(955-957)gcC>gcT		solute carrier family 2 (facilitated glucose/fructose transporter), member 5							19	22	21					1																	9099650		2183	4274	6457	SO:0001819	synonymous_variant	6518				carbohydrate metabolic process	integral to membrane|plasma membrane	fructose transmembrane transporter activity|glucose transmembrane transporter activity	g.chr1:9099650G>A	BC001820	CCDS99.1, CCDS44054.1	1p36.2	2013-05-22			ENSG00000142583	ENSG00000142583		"Solute carriers"	11010	protein-coding gene	gene with protein product		138230		GLUT5		9691177	Standard	NM_003039		Approved		uc001apo.3	P22732	OTTHUMG00000001771	ENST00000377424.4:c.957C>T	1.37:g.9099650G>A						SLC2A5_ENST00000536305.1_Silent_p.A260A|SLC2A5_ENST00000535586.1_Silent_p.A204A	p.A319A	NM_003039.2	NP_003030.1	P22732	GTR5_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;7.78e-07)|COAD - Colon adenocarcinoma(227;8.83e-05)|Kidney(185;0.000286)|KIRC - Kidney renal clear cell carcinoma(229;0.00103)|STAD - Stomach adenocarcinoma(132;0.0019)|BRCA - Breast invasive adenocarcinoma(304;0.00199)|READ - Rectum adenocarcinoma(331;0.0649)	8	1136	-	Ovarian(185;0.112)|all_lung(157;0.185)	all_epithelial(116;1.34e-15)|all_lung(118;9.46e-05)|Lung NSC(185;0.000172)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.00715)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)	319					Q14770|Q5T977|Q8IVB3	Silent	SNP	ENST00000377424.4	37	c.957C>T	CCDS99.1																																																																																				0.697	SLC2A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004932.1	NM_003039		3	4	0	0	0	0.184627	0	3	4					A	9099650	G	A	9099650	2	1	219	1	0	0	0	0	0	0	0	1	14548	1103	39	2		2	SLC2A5	1	9099650	Silent	SNP	G	TCGA-HC-7749-01A-11D-2114-08		9099650	240150971	1	10080											
ASTN1	460	broad.mit.edu	37	chr1	176857225	176857225	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acacaggctgtgggagaggcGcacaggtggggagtccatca	10	5	17	9	1	1	1	1	0	0	1	2	3	2	2	1	6	0	2	1	6	0	0			TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chr1:176857225G>A	ENST00000367654.3	-	18	3291	c.3080C>T	c.(3079-3081)gCg>gTg	p.A1027V	ASTN1_ENST00000424564.2_Missense_Mutation_p.A1019V|ASTN1_ENST00000361833.2_Missense_Mutation_p.A1019V|ASTN1_ENST00000367657.3_Missense_Mutation_p.A1019V	NM_004319.1	NP_004310.1	O14525	ASTN1_HUMAN	astrotactin 1	1027					locomotory behavior (GO:0007626)|neuron cell-cell adhesion (GO:0007158)|neuron migration (GO:0001764)	endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						TGGGAGAGGCGCACAGGTGGG	0.502																																						ENST00000367654.2																			0				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						c.(3079-3081)gCg>gTg		astrotactin 1							101	91	95					1																	176857225		2203	4300	6503	SO:0001583	missense	460				cell migration|neuron cell-cell adhesion	integral to membrane		g.chr1:176857225G>A	AB006627	CCDS1319.1, CCDS44280.1, CCDS65732.1	1q25.2	2008-02-05	2006-08-24	2006-08-24	ENSG00000152092	ENSG00000152092			773	protein-coding gene	gene with protein product		600904	"astrotactin"	ASTN		9070947	Standard	NM_001286164		Approved		uc001glc.3	O14525	OTTHUMG00000035041	ENST00000367654.3:c.3080C>T	1.37:g.176857225G>A	ENSP00000356626:p.Ala1027Val					ASTN1_ENST00000361833.2_Missense_Mutation_p.A1019V|ASTN1_ENST00000424564.2_Missense_Mutation_p.A1019V|ASTN1_ENST00000367657.3_Missense_Mutation_p.A1019V	p.A1027V			O14525	ASTN1_HUMAN			18	3093	-			1027					A5PL12|B4DHI9|E9PFR8|O60799|Q5W0V7|Q5W0V8	Missense_Mutation	SNP	ENST00000367654.3	37	c.3080C>T		.	.	.	.	.	.	.	.	.	.	G	26.4	4.738388	0.89573	.	.	ENSG00000152092	ENST00000367657;ENST00000361833;ENST00000367654;ENST00000424564;ENST00000541808	T;T;T;T	0.36340	1.26;1.26;1.26;1.26	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	T	0.57184	0.2036	L	0.50333	1.59	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.73708	0.981;0.981	T	0.56697	-0.7936	10	0.87932	D	0	-27.1087	19.5873	0.95495	0.0:0.0:1.0:0.0	.	1019;1019	O14525-2;B1AJS1	.;.	V	1019;1019;1027;1019;1019	ENSP00000356629:A1019V;ENSP00000354536:A1019V;ENSP00000356626:A1027V;ENSP00000395041:A1019V	ENSP00000354536:A1019V	A	-	2	0	ASTN1	175123848	1.000000	0.71417	0.961000	0.40146	0.586000	0.36452	6.261000	0.72509	2.729000	0.93468	0.585000	0.79938	GCG		0.502	ASTN1-201	KNOWN	basic	protein_coding	protein_coding		NM_004319		6	87	0	0	0	0.307466	0	6	87					A	176857225	G	A	176857225	3	1	219	1	0	0	0	0	1	0	0	0	1064	1087	38	1	856	1	ASTN1	1	176857225	Missense_Mutation	SNP	G	TCGA-HC-7749-01A-11D-2114-08	167757575	176857225	72393396	2	10081											
ASTN1	460	broad.mit.edu	37	chr1	177030386	177030386	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaccaaagggatatcctctGtgttccctgagatctctaga	10	11	9	11	0	2	2	0	1	2	2	5	4	4	3	3	1	0	2	3	1	3	3			TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chr1:177030386G>C	ENST00000367654.3	-	2	510	c.299C>G	c.(298-300)aCa>aGa	p.T100R	ASTN1_ENST00000424564.2_Missense_Mutation_p.T100R|ASTN1_ENST00000361833.2_Missense_Mutation_p.T100R|ASTN1_ENST00000281881.3_5'UTR|ASTN1_ENST00000367657.3_Missense_Mutation_p.T100R	NM_004319.1	NP_004310.1	O14525	ASTN1_HUMAN	astrotactin 1	100					locomotory behavior (GO:0007626)|neuron cell-cell adhesion (GO:0007158)|neuron migration (GO:0001764)	endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						GATATCCTCTGTGTTCCCTGA	0.488																																						ENST00000367654.2																			0				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						c.(298-300)aCa>aGa		astrotactin 1							135	127	130					1																	177030386		2203	4300	6503	SO:0001583	missense	460				cell migration|neuron cell-cell adhesion	integral to membrane		g.chr1:177030386G>C	AB006627	CCDS1319.1, CCDS44280.1, CCDS65732.1	1q25.2	2008-02-05	2006-08-24	2006-08-24	ENSG00000152092	ENSG00000152092			773	protein-coding gene	gene with protein product		600904	"astrotactin"	ASTN		9070947	Standard	NM_001286164		Approved		uc001glc.3	O14525	OTTHUMG00000035041	ENST00000367654.3:c.299C>G	1.37:g.177030386G>C	ENSP00000356626:p.Thr100Arg					ASTN1_ENST00000281881.3_5'UTR|ASTN1_ENST00000361833.2_Missense_Mutation_p.T100R|ASTN1_ENST00000424564.2_Missense_Mutation_p.T100R|ASTN1_ENST00000367657.3_Missense_Mutation_p.T100R	p.T100R			O14525	ASTN1_HUMAN			2	312	-			100					A5PL12|B4DHI9|E9PFR8|O60799|Q5W0V7|Q5W0V8	Missense_Mutation	SNP	ENST00000367654.3	37	c.299C>G		.	.	.	.	.	.	.	.	.	.	G	18.34	3.602112	0.66445	.	.	ENSG00000152092	ENST00000367657;ENST00000361833;ENST00000367654;ENST00000424564;ENST00000541808	T;T;T;T	0.15139	2.45;2.87;2.87;2.46	6.06	6.06	0.98353	.	0.058147	0.64402	D	0.000001	T	0.21801	0.0525	N	0.22421	0.69	0.80722	D	1	P;P;P	0.49090	0.919;0.919;0.919	P;P;P	0.48704	0.587;0.587;0.587	T	0.00402	-1.1762	10	0.72032	D	0.01	-8.8149	20.2159	0.98296	0.0:0.0:1.0:0.0	.	100;100;100	O14525;O14525-2;B1AJS1	ASTN1_HUMAN;.;.	R	100	ENSP00000356629:T100R;ENSP00000354536:T100R;ENSP00000356626:T100R;ENSP00000395041:T100R	ENSP00000354536:T100R	T	-	2	0	ASTN1	175297009	1.000000	0.71417	0.984000	0.44739	0.999000	0.98932	9.689000	0.98673	2.882000	0.98803	0.655000	0.94253	ACA		0.488	ASTN1-201	KNOWN	basic	protein_coding	protein_coding		NM_004319		3	148	0	0	0	0.115264	0	3	148					C	177030386	G	C	177030386	3	2	219	1	0	0	0	0	1	0	0	0	1064	1377	48	5	3677	5	ASTN1	1	177030386	Missense_Mutation	SNP	G	TCGA-HC-7749-01A-11D-2114-08	173161	177030386	72220235	3	10082											
HEATR5B	54497	broad.mit.edu	37	chr2	37310452	37310453	+	Frame_Shift_Ins	INS	-	-	T																															ttgttggcagcaaccaagacINStttatcaagaaatcgcaacc																								rs532790945		TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chr2:37310452_37310453insT	ENST00000233099.5	-	2	200_201	c.105_106insA	c.(103-108)aaagtcfs	p.V36fs	GPATCH11_ENST00000281932.5_5'Flank|GPATCH11_ENST00000409774.1_5'Flank|HEATR5B_ENST00000354531.2_Frame_Shift_Ins_p.V36fs|GPATCH11_ENST00000608836.1_5'Flank	NM_019024.1	NP_061897.1	Q9P2D3	HTR5B_HUMAN	HEAT repeat containing 5B	36						extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)				breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	77		all_hematologic(82;0.21)				GCAACCAAGACTTTATCAAGAA	0.371																																						ENST00000233099.5																			0				breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	77						c.(103-108)aatcttfs		HEAT repeat containing 5B																																				SO:0001589	frameshift_variant	54497						binding	g.chr2:37310452_37310453insT	AB037835	CCDS33181.1	2p22.2	2007-01-02			ENSG00000008869	ENSG00000008869			29273	protein-coding gene	gene with protein product						10718198	Standard	XM_005264379		Approved	KIAA1414, DKFZp686P15184	uc002rpp.1	Q9P2D3	OTTHUMG00000152158	ENST00000233099.5:c.106dupA	2.37:g.37310455_37310455dupT	ENSP00000233099:p.Val36fs					HEATR5B_ENST00000354531.2_Frame_Shift_Ins_p.NL35fs	p.NL35fs	NM_019024.1	NP_061897.1	Q9P2D3	HTR5B_HUMAN			2	200_201	-		all_hematologic(82;0.21)	35					B5MDU8|Q7Z3B2|Q9NVL7	Frame_Shift_Ins	INS	ENST00000233099.5	37	c.105_106insA	CCDS33181.1																																																																																				0.371	HEATR5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325492.1	NM_019024		31	58						31	58	---	---	---	---	T	37310453	-	T	37310452	7	5	219	1	0	1	1	0	0	0	0	0	7032	565	20	0	6249	0	HEATR5B	2	37310452	Frame_Shift_Ins	INS	-	TCGA-HC-7749-01A-11D-2114-08		37310452	205888921	4	10083											
SLC8A1	6546	broad.mit.edu	37	chr2	40366712	40366712	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagtattcagtaggggggaCgaaggcaaacaggaccttcc	12	6	13	10	1	1	0	1	0	0	0	2	3	2	2	3	5	1	3	3	5	4	4			TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chr2:40366712C>A	ENST00000403092.1	-	10	2407	c.2374G>T	c.(2374-2376)Gtc>Ttc	p.V792F	SLC8A1_ENST00000332839.4_Missense_Mutation_p.V792F|SLC8A1_ENST00000406391.2_Missense_Mutation_p.V756F|SLC8A1-AS1_ENST00000444629.1_RNA|SLC8A1-AS1_ENST00000599268.1_RNA|SLC8A1_ENST00000542756.1_Missense_Mutation_p.V787F|SLC8A1-AS1_ENST00000435515.1_RNA|SLC8A1-AS1_ENST00000599740.1_RNA|SLC8A1-AS1_ENST00000593878.1_RNA|SLC8A1-AS1_ENST00000593848.1_RNA|SLC8A1_ENST00000402441.1_Missense_Mutation_p.V756F|SLC8A1_ENST00000542024.1_Missense_Mutation_p.V756F|SLC8A1_ENST00000405269.1_Missense_Mutation_p.V756F|SLC8A1-AS1_ENST00000598247.1_RNA|SLC8A1-AS1_ENST00000596532.1_RNA|SLC8A1_ENST00000406785.2_Missense_Mutation_p.V756F|SLC8A1-AS1_ENST00000599956.1_RNA|SLC8A1_ENST00000408028.2_Missense_Mutation_p.V784F|SLC8A1-AS1_ENST00000601679.1_RNA|SLC8A1-AS1_ENST00000597385.1_RNA|SLC8A1_ENST00000405901.3_Missense_Mutation_p.V787F|SLC8A1-AS1_ENST00000597170.1_RNA			P32418	NAC1_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 1	792					blood coagulation (GO:0007596)|calcium ion export (GO:1901660)|calcium ion homeostasis (GO:0055074)|calcium ion import (GO:0070509)|calcium ion transport into cytosol (GO:0060402)|cardiac muscle cell development (GO:0055013)|cardiac muscle contraction (GO:0060048)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular response to caffeine (GO:0071313)|cellular response to reactive oxygen species (GO:0034614)|cellular sodium ion homeostasis (GO:0006883)|cytosolic calcium ion transport (GO:0060401)|embryonic heart tube development (GO:0035050)|embryonic placenta development (GO:0001892)|heart morphogenesis (GO:0003007)|ion transport (GO:0006811)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|muscle contraction (GO:0006936)|muscle fiber development (GO:0048747)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|post-embryonic development (GO:0009791)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|relaxation of cardiac muscle (GO:0055119)|relaxation of smooth muscle (GO:0044557)|sodium ion export (GO:0071436)|sodium ion import (GO:0097369)|transmembrane transport (GO:0055085)|vascular smooth muscle contraction (GO:0014829)	basolateral plasma membrane (GO:0016323)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|calcium:sodium antiporter activity (GO:0005432)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	GTAGGGGGGACGAAGGCAAAC	0.502																																						ENST00000406785.1																			0				NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100						c.(2266-2268)Gtc>Ttc		solute carrier family 8 (sodium/calcium exchanger), member 1	Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)						159	138	145					2																	40366712		2203	4300	6503	SO:0001583	missense	6546				cell communication|muscle contraction|platelet activation	integral to plasma membrane	calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding	g.chr2:40366712C>A		CCDS1806.1, CCDS46264.1, CCDS46265.1, CCDS59430.1	2p22.1	2013-07-15			ENSG00000183023	ENSG00000183023		"Solute carriers"	11068	protein-coding gene	gene with protein product	"Na+/Ca++ exchanger"	182305		NCX1		1559714	Standard	NM_021097		Approved		uc002rrx.3	P32418	OTTHUMG00000102183	ENST00000403092.1:c.2374G>T	2.37:g.40366712C>A	ENSP00000384763:p.Val792Phe					SLC8A1_ENST00000332839.4_Missense_Mutation_p.V792F|SLC8A1_ENST00000408028.2_Missense_Mutation_p.V784F|SLC8A1-AS1_ENST00000601679.1_RNA|SLC8A1_ENST00000405901.3_Missense_Mutation_p.V787F|SLC8A1-AS1_ENST00000599956.1_RNA|SLC8A1-AS1_ENST00000444629.1_RNA|SLC8A1_ENST00000405269.1_Missense_Mutation_p.V756F|SLC8A1-AS1_ENST00000597170.1_RNA|SLC8A1-AS1_ENST00000599740.1_RNA|SLC8A1-AS1_ENST00000596532.1_RNA|SLC8A1-AS1_ENST00000435515.1_RNA|SLC8A1-AS1_ENST00000593848.1_RNA|SLC8A1-AS1_ENST00000593878.1_RNA|SLC8A1_ENST00000542756.1_Missense_Mutation_p.V787F|SLC8A1_ENST00000542024.1_Missense_Mutation_p.V756F|SLC8A1_ENST00000403092.1_Missense_Mutation_p.V792F|SLC8A1_ENST00000406391.2_Missense_Mutation_p.V756F|SLC8A1-AS1_ENST00000599268.1_RNA|SLC8A1_ENST00000402441.1_Missense_Mutation_p.V756F|SLC8A1-AS1_ENST00000598247.1_RNA|SLC8A1-AS1_ENST00000597385.1_RNA	p.V756F			P32418	NAC1_HUMAN			7	2455	-			792					A8K6N1|D6W595|O95849|Q4QQG6|Q587I6|Q59GN4|Q9UBL8|Q9UD55|Q9UDN1|Q9UDN2|Q9UKX6	Missense_Mutation	SNP	ENST00000403092.1	37	c.2266G>T	CCDS1806.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.301702	0.81136	.	.	ENSG00000183023	ENST00000406785;ENST00000378715;ENST00000542756;ENST00000403092;ENST00000405901;ENST00000402441;ENST00000405269;ENST00000332839;ENST00000408028;ENST00000535962;ENST00000406391;ENST00000542024	T;T;T;T;T;T;T;T;T;T	0.34859	1.35;1.39;1.39;1.39;1.35;1.35;1.39;1.34;1.35;1.35	5.06	5.06	0.68205	.	0.000000	0.85682	D	0.000000	T	0.63896	0.2550	M	0.84156	2.68	0.80722	D	1	D;D;D;D	0.89917	0.984;1.0;1.0;1.0	D;D;D;D	0.87578	0.936;0.994;0.998;0.992	T	0.70096	-0.4966	10	0.87932	D	0	.	15.9345	0.79691	0.0:1.0:0.0:0.0	.	756;779;787;792	P32418-2;P32418-3;F6VPY9;P32418	.;.;.;NAC1_HUMAN	F	756;792;787;792;787;756;756;792;784;779;756;756	ENSP00000383886:V756F;ENSP00000440727:V787F;ENSP00000384763:V792F;ENSP00000385678:V787F;ENSP00000385188:V756F;ENSP00000385535:V756F;ENSP00000332931:V792F;ENSP00000384908:V784F;ENSP00000385811:V756F;ENSP00000443515:V756F	ENSP00000332931:V792F	V	-	1	0	SLC8A1	40220216	1.000000	0.71417	1.000000	0.80357	0.796000	0.44982	7.711000	0.84669	2.333000	0.79357	0.563000	0.77884	GTC		0.502	SLC8A1-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326065.1	NM_021097		23	72	1	0	6.32553e-13	0.681144	6.8287e-13	23	72					A	40366712	C	A	40366712	3	1	219	1	0	0	0	0	1	0	0	0	14706	536	19	5	555	5	SLC8A1	2	40366712	Missense_Mutation	SNP	C	TCGA-HC-7749-01A-11D-2114-08	3056260	40366712	202832661	5	10084											
SOCS5	9655	broad.mit.edu	37	chr2	46986141	46986141	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggagagagaggcgctacggcGtaagttctgtacacgacatg	11	7	15	8	4	1	2	0	0	1	2	1	5	1	2	0	3	2	4	0	3	3	4	rs373780921		TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chr2:46986141G>A	ENST00000306503.5	+	2	644	c.472G>A	c.(472-474)Gta>Ata	p.V158I	SOCS5_ENST00000394861.2_Missense_Mutation_p.V158I	NM_014011.4	NP_054730.1	O75159	SOCS5_HUMAN	suppressor of cytokine signaling 5	158					cell growth (GO:0016049)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|JAK-STAT cascade (GO:0007259)|negative regulation of epidermal growth factor-activated receptor activity (GO:0007175)|negative regulation of signal transduction (GO:0009968)|negative regulation of T-helper 2 cell differentiation (GO:0045629)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of T-helper 1 cell differentiation (GO:0045627)|protein ubiquitination (GO:0016567)|regulation of growth (GO:0040008)		receptor tyrosine kinase binding (GO:0030971)			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(9)|ovary(2)	22		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	LUSC - Lung squamous cell carcinoma(58;0.114)			GCGCTACGGCGTAAGTTCTGT	0.458																																						ENST00000306503.5																			0				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(9)|ovary(2)	22						c.(472-474)Gta>Ata		suppressor of cytokine signaling 5		G	ILE/VAL,ILE/VAL	0,4402		0,0,2201	75	71	73		472,472	3.7	0	2		73	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	SOCS5	NM_144949.2,NM_014011.4	29,29	0,1,6500	AA,AG,GG		0.0116,0.0,0.0077	benign,benign	158/537,158/537	46986141	1,13001	2201	4300	6501	SO:0001583	missense	0				cell growth|cytokine-mediated signaling pathway|intracellular signal transduction|negative regulation of signal transduction|negative regulation of T-helper 2 cell differentiation|positive regulation of T-helper 1 cell differentiation|regulation of growth			g.chr2:46986141G>A	AB014571	CCDS1830.1	2p21	2013-02-14			ENSG00000171150	ENSG00000171150		"Suppressors of cytokine signaling", "SH2 domain containing"	16852	protein-coding gene	gene with protein product		607094				9734811, 11230166	Standard	NM_014011		Approved	KIAA0671, SOCS-5, CIS6, CISH6, Cish5	uc002rvf.3	O75159	OTTHUMG00000128852	ENST00000306503.5:c.472G>A	2.37:g.46986141G>A	ENSP00000305133:p.Val158Ile					SOCS5_ENST00000394861.2_Missense_Mutation_p.V158I	p.V158I	NM_014011.4	NP_054730.1	O75159	SOCS5_HUMAN	LUSC - Lung squamous cell carcinoma(58;0.114)		2	644	+		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	158					Q53SD4|Q8IYZ4	Missense_Mutation	SNP	ENST00000306503.5	37	c.472G>A	CCDS1830.1	.	.	.	.	.	.	.	.	.	.	G	3.937	-0.014928	0.07681	0.0	1.16E-4	ENSG00000171150	ENST00000306503;ENST00000394861	T;T	0.32023	1.47;1.47	5.55	3.74	0.42951	.	0.403945	0.26605	N	0.023449	T	0.17704	0.0425	N	0.14661	0.345	0.19575	N	0.999968	B	0.15719	0.014	B	0.09377	0.004	T	0.15867	-1.0422	10	0.30078	T	0.28	-6.1663	11.2297	0.48905	0.0695:0.1278:0.8027:0.0	.	158	O75159	SOCS5_HUMAN	I	158	ENSP00000305133:V158I;ENSP00000378330:V158I	ENSP00000305133:V158I	V	+	1	0	SOCS5	46839645	1.000000	0.71417	0.004000	0.12327	0.064000	0.16182	4.916000	0.63362	0.881000	0.35993	0.655000	0.94253	GTA		0.458	SOCS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250791.2			3	95	0	0	0	0.115264	0	3	95					A	46986141	G	A	46986141	3	1	219	1	0	0	0	0	1	0	0	0	14917	1145	40	1	474	1	SOCS5	2	46986141	Missense_Mutation	SNP	G	TCGA-HC-7749-01A-11D-2114-08	6619429	46986141	196213232	6	10085											
DPP10	57628	broad.mit.edu	37	chr2	116520170	116520170	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atatgagatgacatcagataCgtggctctctcagcaggtac	12	10	10	9	1	3	3	2	2	1	2	4	4	3	3	0	2	3	3	0	2	3	3	rs201296031		TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chr2:116520170C>T	ENST00000410059.1	+	12	1577	c.1097C>T	c.(1096-1098)aCg>aTg	p.T366M	DPP10_ENST00000409163.1_Missense_Mutation_p.T316M|DPP10_ENST00000393147.2_Missense_Mutation_p.T370M|DPP10_ENST00000310323.8_Missense_Mutation_p.T359M	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919	Q8N608	DPP10_HUMAN	dipeptidyl-peptidase 10 (non-functional)	366						integral component of membrane (GO:0016021)|membrane (GO:0016020)	serine-type peptidase activity (GO:0008236)			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						ACATCAGATACGTGGCTCTCT	0.353																																						ENST00000410059.1																			0				breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						c.(1096-1098)aCg>aTg		dipeptidyl-peptidase 10 (non-functional)		C	MET/THR,MET/THR,MET/THR,MET/THR,MET/THR	0,4406		0,0,2203	196	185	189		1076,1109,947,1085,1097	4	1	2		189	2,8598	2.2+/-6.3	0,2,4298	yes	missense,missense,missense,missense,missense	DPP10	NM_001004360.3,NM_001178034.1,NM_001178036.1,NM_001178037.1,NM_020868.3	81,81,81,81,81	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	benign,benign,benign,benign,benign	359/790,370/801,316/747,362/793,366/797	116520170	2,13004	2203	4300	6503	SO:0001583	missense	57628				proteolysis	integral to membrane|membrane fraction	serine-type peptidase activity	g.chr2:116520170C>T	AY172661	CCDS33278.1, CCDS46400.1, CCDS54388.1, CCDS54389.1	2q14.1	2010-05-04	2010-05-04		ENSG00000175497	ENSG00000175497			20823	protein-coding gene	gene with protein product		608209	"dipeptidylpeptidase 10", "dipeptidyl-peptidase 10"			10819331, 12662155	Standard	NM_020868		Approved	DPRP3	uc002tle.3	Q8N608	OTTHUMG00000153294	ENST00000410059.1:c.1097C>T	2.37:g.116520170C>T	ENSP00000386565:p.Thr366Met					DPP10_ENST00000310323.8_Missense_Mutation_p.T359M|DPP10_ENST00000409163.1_Missense_Mutation_p.T316M|DPP10_ENST00000393147.2_Missense_Mutation_p.T370M	p.T366M	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919.2	Q8N608	DPP10_HUMAN			12	1577	+			366					A8K1Q2|J3KPP2|J3KQ46|Q0GLB8|Q53QT3|Q53S86|Q53SL8|Q53SS4|Q6TTV4|Q86YR9|Q9P236	Missense_Mutation	SNP	ENST00000410059.1	37	c.1097C>T	CCDS46400.1	.	.	.	.	.	.	.	.	.	.	C	14.18	2.457721	0.43634	0.0	2.33E-4	ENSG00000175497	ENST00000410059;ENST00000409163;ENST00000393147;ENST00000310323;ENST00000476155	T;T;T;T	0.32515	1.45;1.45;1.45;1.45	4.99	4.04	0.47022	Peptidase S9B, dipeptidylpeptidase IV N-terminal (1);	0.327598	0.28482	N	0.015182	T	0.14787	0.0357	N	0.14661	0.345	0.30283	N	0.791111	P;P;P;P	0.48694	0.789;0.914;0.824;0.824	B;B;B;B	0.39379	0.197;0.194;0.298;0.298	T	0.07424	-1.0773	10	0.62326	D	0.03	-16.0613	4.604	0.12368	0.0:0.7417:0.0:0.2583	.	359;370;362;366	Q8N608-2;Q0GLB8;Q0GLB9;Q8N608	.;.;.;DPP10_HUMAN	M	366;316;370;359;316	ENSP00000386565:T366M;ENSP00000387038:T316M;ENSP00000376855:T370M;ENSP00000309066:T359M	ENSP00000309066:T359M	T	+	2	0	DPP10	116236640	0.997000	0.39634	0.956000	0.39512	0.931000	0.56810	3.754000	0.55189	2.604000	0.88044	0.555000	0.69702	ACG		0.353	DPP10-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000330580.4	NM_020868		32	115	0	0	0	0.812448	0	32	115					T	116520170	C	T	116520170	3	4	219	1	0	0	0	0	1	0	0	0	4727	536	19	1	1314	1	DPP10	2	116520170	Missense_Mutation	SNP	C	TCGA-HC-7749-01A-11D-2114-08	69534029	116520170	126679203	7	10086											
GLI2	2736	broad.mit.edu	37	chr2	121726332	121726332	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggtgacgccccgcctgagccGcaagcgggcgctgtccatct	5	6	14	16	5	1	2	0	2	1	0	2	2	2	2	5	2	2	2	5	2	1	0			TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chr2:121726332G>A	ENST00000452319.1	+	6	746	c.686G>A	c.(685-687)cGc>cAc	p.R229H	GLI2_ENST00000361492.4_Missense_Mutation_p.R229H|GLI2_ENST00000435313.2_3'UTR|GLI2_ENST00000314490.11_5'UTR					GLI family zinc finger 2											NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(3;0.0496)	Prostate(154;0.0623)				CGCCTGAGCCGCAAGCGGGCG	0.637																																						ENST00000452319.1																			0				NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						c.(685-687)cGc>cAc		GLI family zinc finger 2							70	68	69					2																	121726332		2203	4300	6503	SO:0001583	missense	2736				axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr2:121726332G>A		CCDS33283.1	2q14	2013-01-25	2009-03-05		ENSG00000074047	ENSG00000074047		"Zinc fingers, C2H2-type"	4318	protein-coding gene	gene with protein product	"tax-responsive element-2 holding protein", "tax helper protein 1", "tax helper protein 2"	165230	"GLI-Kruppel family member GLI2", "glioma-associated oncogene family zinc finger 2"			2850480, 9557682	Standard	NM_005270		Approved	THP2, HPE9, THP1	uc010flp.3	P10070	OTTHUMG00000153741	ENST00000452319.1:c.686G>A	2.37:g.121726332G>A	ENSP00000390436:p.Arg229His					GLI2_ENST00000435313.2_3'UTR|GLI2_ENST00000361492.4_Missense_Mutation_p.R229H|GLI2_ENST00000314490.11_5'UTR	p.R229H			P10070	GLI2_HUMAN			6	746	+	Renal(3;0.0496)	Prostate(154;0.0623)	229						Missense_Mutation	SNP	ENST00000452319.1	37	c.686G>A	CCDS33283.1	.	.	.	.	.	.	.	.	.	.	G	35	5.579154	0.96565	.	.	ENSG00000074047	ENST00000452319;ENST00000361492	T;T	0.70631	-0.5;-0.5	4.91	4.91	0.64330	.	0.000000	0.85682	D	0.000000	D	0.85635	0.5742	M	0.83603	2.65	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.991;0.996	D	0.87826	0.2641	10	0.87932	D	0	.	18.2868	0.90117	0.0:0.0:1.0:0.0	.	229;229	P10070;Q0VGA0	GLI2_HUMAN;.	H	229	ENSP00000390436:R229H;ENSP00000354586:R229H	ENSP00000354586:R229H	R	+	2	0	GLI2	121442802	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.766000	0.85320	2.557000	0.86248	0.655000	0.94253	CGC		0.637	GLI2-009	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332293.3	NM_005270		11	129	0	0	0	0.435327	0	11	129					A	121726332	G	A	121726332	3	1	219	1	0	0	0	0	1	0	0	0	6438	1087	38	1	704	1	GLI2	2	121726332	Missense_Mutation	SNP	G	TCGA-HC-7749-01A-11D-2114-08	5206162	121726332	121473041	8	10087											
RIF1	55183	broad.mit.edu	37	chr2	152311552	152311552	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	attctgataccctcttcactAttggcaactcaatcaccggc	10	12	5	14	1	5	1	3	1	2	0	5	1	5	1	2	2	2	1	2	2	4	5			TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chr2:152311552A>G	ENST00000243326.5	+	21	2971	c.2488A>G	c.(2488-2490)Att>Gtt	p.I830V	RIF1_ENST00000428287.2_Missense_Mutation_p.I830V|RIF1_ENST00000444746.2_Missense_Mutation_p.I830V|RIF1_ENST00000430328.2_Missense_Mutation_p.I830V|RIF1_ENST00000453091.2_Missense_Mutation_p.I830V			Q9Y581	INSL6_HUMAN	replication timing regulatory factor 1	0					fertilization (GO:0009566)|male gonad development (GO:0008584)|negative regulation of apoptotic process (GO:0043066)|sperm motility (GO:0030317)|spermatid development (GO:0007286)	extracellular region (GO:0005576)	hormone activity (GO:0005179)			NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	97				BRCA - Breast invasive adenocarcinoma(221;0.0429)		CCTCTTCACTATTGGCAACTC	0.383																																						ENST00000243326.4																			0				NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	97						c.(2488-2490)Att>Gtt		RAP1 interacting factor homolog (yeast)							149	149	149					2																	152311552		2203	4300	6503	SO:0001583	missense	55183				cell cycle|response to DNA damage stimulus	chromosome, telomeric region|cytoplasm|nucleus|spindle	binding	g.chr2:152311552A>G	AK022932	CCDS2194.1, CCDS54406.1	2q23.3	2014-06-02	2014-06-02		ENSG00000080345	ENSG00000080345			23207	protein-coding gene	gene with protein product		608952	"RAP1 interacting factor homolog (yeast)"			15342490, 15042697, 22850674	Standard	NM_018151		Approved	FLJ12870, FLJ10599	uc002txm.3	Q5UIP0	OTTHUMG00000131886	ENST00000243326.5:c.2488A>G	2.37:g.152311552A>G	ENSP00000243326:p.Ile830Val					RIF1_ENST00000453091.2_Missense_Mutation_p.I830V|RIF1_ENST00000428287.2_Missense_Mutation_p.I830V|RIF1_ENST00000430328.2_Missense_Mutation_p.I830V|RIF1_ENST00000444746.2_Missense_Mutation_p.I830V	p.I830V			Q5UIP0	RIF1_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0429)	21	2971	+			830					A0AVS0|Q9NS16	Missense_Mutation	SNP	ENST00000243326.5	37	c.2488A>G	CCDS2194.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	6.317|6.317	0.426629|0.426629	0.11987|0.11987	.|.	.|.	ENSG00000080345|ENSG00000080345	ENST00000444746;ENST00000453091;ENST00000428287;ENST00000243326;ENST00000430328|ENST00000414861	T;T;T;T;T|.	0.68903|.	-0.36;-0.36;-0.36;-0.36;-0.36|.	5.55|5.55	-2.28|-2.28	0.06826|0.06826	.|.	0.575385|.	0.18338|.	N|.	0.144297|.	T|T	0.29945|0.29945	0.0749|0.0749	N|N	0.12569|0.12569	0.235|0.235	0.33049|0.33049	D|D	0.53246|0.53246	B;B|.	0.11235|.	0.004;0.001|.	B;B|.	0.10450|.	0.002;0.005|.	T|T	0.39742|0.39742	-0.9599|-0.9599	10|5	0.18276|.	T|.	0.48|.	-4.6537|-4.6537	12.6802|12.6802	0.56918|0.56918	0.5628:0.0:0.4372:0.0|0.5628:0.0:0.4372:0.0	.|.	830;830|.	Q5UIP0;Q5UIP0-2|.	RIF1_HUMAN;.|.	V|C	830|821	ENSP00000390181:I830V;ENSP00000414615:I830V;ENSP00000415691:I830V;ENSP00000243326:I830V;ENSP00000416123:I830V|.	ENSP00000243326:I830V|.	I|Y	+|+	1|2	0|0	RIF1|RIF1	152019798|152019798	0.000000|0.000000	0.05858|0.05858	0.214000|0.214000	0.23707|0.23707	0.986000|0.986000	0.74619|0.74619	-0.387000|-0.387000	0.07361|0.07361	-0.387000|-0.387000	0.07809|0.07809	0.533000|0.533000	0.62120|0.62120	ATT|TAT		0.383	RIF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254836.3			3	137	0	0	0	0.115264	0	3	137					G	152311552	A	G	152311552	3	3	219	1	0	0	0	0	1	0	0	0	13359	449	16	4	2570	4	RIF1	2	152311552	Missense_Mutation	SNP	A	TCGA-HC-7749-01A-11D-2114-08	30585220	152311552	90887821	9	10088											
CYTIP	9595	broad.mit.edu	37	chr2	158272196	158272196	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acaccacaatccgtcaaaagCgactttcttcctcttccaca	12	10	3	16	2	3	0	1	0	2	0	6	1	6	0	4	0	1	0	4	0	3	3			TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chr2:158272196C>T	ENST00000264192.3	-	8	1194	c.1073G>A	c.(1072-1074)cGc>cAc	p.R358H	CYTIP_ENST00000540637.1_Missense_Mutation_p.R252H	NM_004288.4	NP_004279.3	O60759	CYTIP_HUMAN	cytohesin 1 interacting protein	358					regulation of cell adhesion (GO:0030155)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|endosome (GO:0005768)|nucleus (GO:0005634)				breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	15						CCGTCAAAAGCGACTTTCTTC	0.468																																						ENST00000264192.3																			0				breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	15						c.(1072-1074)cGc>cAc		cytohesin 1 interacting protein							70	66	68					2																	158272196		2203	4300	6503	SO:0001583	missense	9595				regulation of cell adhesion	cell cortex|early endosome	protein binding	g.chr2:158272196C>T	L06633	CCDS2204.1	2q11.2	2011-09-08	2008-08-14	2008-08-19	ENSG00000115165	ENSG00000115165			9506	protein-coding gene	gene with protein product	"cytohesin binding protein HE", "cytohesin binder and regulator"	604448	"pleckstrin homology, Sec7 and coiled-coil domains, binding protein"	PSCDBP		18926288, 10343115, 11867758, 20530790, 21562043	Standard	NM_004288		Approved	B3-1, HE, CYBR, CASP, CYTHIP	uc002tzj.1	O60759	OTTHUMG00000154551	ENST00000264192.3:c.1073G>A	2.37:g.158272196C>T	ENSP00000264192:p.Arg358His					CYTIP_ENST00000540637.1_Missense_Mutation_p.R252H	p.R358H	NM_004288.4	NP_004279.3	O60759	CYTIP_HUMAN			8	1194	-			358					B4DWH9|Q15630|Q8NE32	Missense_Mutation	SNP	ENST00000264192.3	37	c.1073G>A	CCDS2204.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.276450	0.80580	.	.	ENSG00000115165	ENST00000264192;ENST00000540637	T;T	0.48201	2.09;0.82	6.06	6.06	0.98353	.	0.252494	0.39687	N	0.001300	T	0.67258	0.2874	M	0.68317	2.08	0.34869	D	0.743457	D	0.89917	1.0	D	0.76071	0.987	T	0.75187	-0.3406	10	0.66056	D	0.02	-17.0131	15.6756	0.77316	0.0:0.8635:0.1364:0.0	.	358	O60759	CYTIP_HUMAN	H	358;252	ENSP00000264192:R358H;ENSP00000440801:R252H	ENSP00000264192:R358H	R	-	2	0	CYTIP	157980442	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	2.708000	0.47152	2.882000	0.98803	0.655000	0.94253	CGC		0.468	CYTIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254926.1	NM_004288		10	47	0	0	0	0.361761	0	10	47					T	158272196	C	T	158272196	3	4	219	1	0	0	0	0	1	0	0	0	4207	768	27	1	10	1	CYTIP	2	158272196	Missense_Mutation	SNP	C	TCGA-HC-7749-01A-11D-2114-08	5960644	158272196	84927177	10	10089											
TTN	7273	broad.mit.edu	37	chr2	179408725	179408725	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caaggtcaatgccctgcttgCtccacgttatgacaggaggt	9	10	11	11	1	1	1	1	1	0	0	2	2	2	2	2	3	3	3	2	3	3	2			TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chr2:179408725C>T	ENST00000591111.1	-	296	91447	c.91223G>A	c.(91222-91224)aGc>aAc	p.S30408N	TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.S29481N|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.S23109N|TTN_ENST00000460472.2_Missense_Mutation_p.S22984N|RP11-65L3.4_ENST00000604692.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.S23176N|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.S32049N|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592600.1_RNA			Q8WZ42	TITIN_HUMAN	titin	30408	Ig-like 137.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GCCCTGCTTGCTCCACGTTAT	0.493																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(96145-96147)aGc>aAc		titin							162	154	156					2																	179408725		1984	4166	6150	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179408725C>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.91223G>A	2.37:g.179408725C>T	ENSP00000465570:p.Ser30408Asn					TTN_ENST00000359218.5_Missense_Mutation_p.S23109N|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.S30408N|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.S23176N|TTN_ENST00000460472.2_Missense_Mutation_p.S22984N|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.S29481N	p.S32049N	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		346	96370	-			30408			Fibronectin type-III 132.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.96146G>A		.	.	.	.	.	.	.	.	.	.	C	14.38	2.517128	0.44763	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.42131	0.98;0.98;0.98;0.98	5.72	1.84	0.25277	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.38639	0.1048	M	0.64260	1.97	0.34144	D	0.666753	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.08055	0.0;0.0;0.003;0.001	T	0.42732	-0.9434	9	0.87932	D	0	.	8.872	0.35323	0.0:0.5268:0.346:0.1271	.	22984;23109;23176;30408	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	N	29481;22984;23176;23109;22981	ENSP00000343764:S29481N;ENSP00000434586:S22984N;ENSP00000340554:S23176N;ENSP00000352154:S23109N	ENSP00000340554:S23176N	S	-	2	0	TTN	179116971	1.000000	0.71417	0.998000	0.56505	0.961000	0.63080	1.392000	0.34486	0.056000	0.16144	-0.304000	0.09214	AGC		0.493	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		27	132	0	0	0	0.667858	0	27	132					T	179408725	C	T	179408725	3	4	219	1	0	0	0	0	1	0	0	0	16732	797	28	3	11901	3	TTN	2	179408725	Missense_Mutation	SNP	C	TCGA-HC-7749-01A-11D-2114-08	21136529	179408725	63790648	11	10090											
ORMDL1	94101	broad.mit.edu	37	chr2	190640394	190640394	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ccttgctttaccctggtcagGagtttcgaaaggtgttcctt	6	15	10	10	1	1	0	1	0	0	0	3	2	2	1	3	3	2	3	3	3	2	6			TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chr2:190640394G>T	ENST00000325795.3	-	2	1009	c.223C>A	c.(223-225)Cct>Act	p.P75T	ORMDL1_ENST00000392349.4_Missense_Mutation_p.P75T|ORMDL1_ENST00000409519.1_Missense_Mutation_p.P75T|ORMDL1_ENST00000392350.3_Missense_Mutation_p.P75T|ORMDL1_ENST00000496543.1_5'Flank			Q9P0S3	ORML1_HUMAN	ORMDL sphingolipid biosynthesis regulator 1	75					ceramide metabolic process (GO:0006672)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)				breast(1)|urinary_tract(1)	2			OV - Ovarian serous cystadenocarcinoma(117;0.00177)|Epithelial(96;0.0317)|all cancers(119;0.0889)			CCCTGGTCAGGAGTTTCGAAA	0.378																																						ENST00000325795.3																			0				breast(1)|urinary_tract(1)	2						c.(223-225)Cct>Act		ORM1-like 1 (S. cerevisiae)							117	115	116					2																	190640394		2203	4300	6503	SO:0001583	missense	94101				ceramide metabolic process	endoplasmic reticulum membrane|integral to membrane		g.chr2:190640394G>T		CCDS2301.1	2q32	2014-06-16	2014-06-16		ENSG00000128699	ENSG00000128699			16036	protein-coding gene	gene with protein product		610073	"ORM1 (S. cerevisiae)-like 1", "ORM1-like 1 (S. cerevisiae)"			12093374, 23066021	Standard	NM_016467		Approved		uc002ure.4	Q9P0S3	OTTHUMG00000132661	ENST00000325795.3:c.223C>A	2.37:g.190640394G>T	ENSP00000326869:p.Pro75Thr					ORMDL1_ENST00000409519.1_Missense_Mutation_p.P75T|ORMDL1_ENST00000392350.3_Missense_Mutation_p.P75T|ORMDL1_ENST00000392349.4_Missense_Mutation_p.P75T	p.P75T			Q9P0S3	ORML1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00177)|Epithelial(96;0.0317)|all cancers(119;0.0889)		2	1009	-			75					B2R8W3|D3DPH9	Missense_Mutation	SNP	ENST00000325795.3	37	c.223C>A	CCDS2301.1	.	.	.	.	.	.	.	.	.	.	G	14.78	2.636558	0.47049	.	.	ENSG00000128699	ENST00000392350;ENST00000325795;ENST00000392349;ENST00000409519;ENST00000442547;ENST00000458355	.	.	.	5.03	5.03	0.67393	.	0.000000	0.85682	D	0.000000	T	0.72407	0.3456	L	0.46157	1.445	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.65076	-0.6256	9	0.13470	T	0.59	-14.6347	18.5564	0.91086	0.0:0.0:1.0:0.0	.	75	Q9P0S3	ORML1_HUMAN	T	75	.	ENSP00000326869:P75T	P	-	1	0	ORMDL1	190348639	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.556000	0.98127	2.605000	0.88082	0.655000	0.94253	CCT		0.378	ORMDL1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335275.1	NM_016467		21	51	1	0	2.79863e-10	0.681144	2.9873e-10	21	51					T	190640394	G	T	190640394	3	4	219	1	0	0	0	0	1	0	0	0	11269	1174	41	5	246	5	ORMDL1	2	190640394	Missense_Mutation	SNP	G	TCGA-HC-7749-01A-11D-2114-08	11231669	190640394	52558979	12	10091											
CAMK1	8536	broad.mit.edu	37	chr3	9804662	9804662	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcatccagcacctggaagAtgaggcggctggcgtcccgc	8	5	14	14	3	0	2	0	1	0	1	2	3	2	3	3	4	2	3	3	4	1	0			TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chr3:9804662A>T	ENST00000256460.3	-	5	542	c.365T>A	c.(364-366)aTc>aAc	p.I122N	OGG1_ENST00000383826.5_Intron|OGG1_ENST00000302036.7_Intron|OGG1_ENST00000349503.5_Intron|OGG1_ENST00000449570.2_Intron|OGG1_ENST00000302008.8_Intron	NM_003656.4	NP_003647.1	Q14012	KCC1A_HUMAN	calcium/calmodulin-dependent protein kinase I	122	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell cycle (GO:0007049)|nucleocytoplasmic transport (GO:0006913)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of synapse structural plasticity (GO:0051835)|protein phosphorylation (GO:0006468)|regulation of muscle cell differentiation (GO:0051147)|regulation of protein binding (GO:0043393)|regulation of protein localization (GO:0032880)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)			endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1)	12	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.0475)		CACCTGGAAGATGAGGCGGCT	0.597																																						ENST00000256460.3																			0				endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1)	12						c.(364-366)aTc>aAc		calcium/calmodulin-dependent protein kinase I							70	62	64					3																	9804662		2203	4300	6503	SO:0001583	missense	8536				cell differentiation|nervous system development|positive regulation of muscle cell differentiation|signal transduction	cytoplasm|nucleus	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity	g.chr3:9804662A>T	L41816	CCDS2582.1	3p25.3	2004-02-27			ENSG00000134072	ENSG00000134072			1459	protein-coding gene	gene with protein product		604998				7641687	Standard	NM_003656		Approved	CaMKI	uc003bst.3	Q14012	OTTHUMG00000128419	ENST00000256460.3:c.365T>A	3.37:g.9804662A>T	ENSP00000256460:p.Ile122Asn					OGG1_ENST00000383826.5_Intron|OGG1_ENST00000349503.5_Intron|OGG1_ENST00000302036.7_Intron|OGG1_ENST00000302008.8_Intron|OGG1_ENST00000449570.2_Intron	p.I122N	NM_003656.4	NP_003647.1	Q14012	KCC1A_HUMAN		OV - Ovarian serous cystadenocarcinoma(96;0.0475)	5	542	-	Medulloblastoma(99;0.227)		122			Protein kinase.		Q3KPF6	Missense_Mutation	SNP	ENST00000256460.3	37	c.365T>A	CCDS2582.1	.	.	.	.	.	.	.	.	.	.	A	25.7	4.666240	0.88251	.	.	ENSG00000134072	ENST00000256460;ENST00000411972	T;T	0.67698	-0.28;-0.28	5.07	5.07	0.68467	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.84611	0.5510	M	0.89601	3.045	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.88171	0.2864	10	0.87932	D	0	-12.9082	14.8392	0.70212	1.0:0.0:0.0:0.0	.	122	Q14012	KCC1A_HUMAN	N	122;78	ENSP00000256460:I122N;ENSP00000404587:I78N	ENSP00000256460:I122N	I	-	2	0	CAMK1	9779662	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.287000	0.95975	1.910000	0.55303	0.379000	0.24179	ATC		0.597	CAMK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250206.1	NM_003656		16	35	0	0	0	0.520397	0	16	35					T	9804662	A	T	9804662	3	4	219	1	0	0	0	0	1	0	0	0	2596	333	12	5	779	5	CAMK1	3	9804662	Missense_Mutation	SNP	A	TCGA-HC-7749-01A-11D-2114-08		9804662	188217768	13	10092											
ULK4	54986	broad.mit.edu	37	chr3	41860984	41860985	+	Frame_Shift_Ins	INS	-	-	T																															cccagcactctctagggttcINSttttttttttcttcctaaaa																								rs76318575		TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chr3:41860984_41860985insT	ENST00000301831.4	-	19	2240_2241	c.1778_1779insA	c.(1777-1779)aagfs	p.K593fs		NM_017886.2	NP_060356.2	Q96C45	ULK4_HUMAN	unc-51 like kinase 4	593					cilium morphogenesis (GO:0060271)|epithelial cilium movement (GO:0003351)|microtubule cytoskeleton organization (GO:0000226)|regulation of JNK cascade (GO:0046328)|regulation of MAPK cascade (GO:0043408)|regulation of neuron migration (GO:2001222)|regulation of neuron projection development (GO:0010975)|regulation of p38MAPK cascade (GO:1900744)|regulation of protein kinase C signaling (GO:0090036)|ventricular system development (GO:0021591)		ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.K593fs*17(1)		breast(2)|cervix(1)|large_intestine(6)|lung(7)|prostate(5)|skin(1)	22				KIRC - Kidney renal clear cell carcinoma(284;0.214)		CTCTAGGGTTCTTTTTTTTTTC	0.45																																						ENST00000301831.4																			1	Deletion - Frameshift(1)	p.K593fs*17(1)	ovary(1)	breast(2)|cervix(1)|large_intestine(6)|lung(7)|prostate(5)|skin(1)	22						c.(1777-1779)aaafs		unc-51 like kinase 4																																				SO:0001589	frameshift_variant	54986						ATP binding|protein serine/threonine kinase activity	g.chr3:41860984_41860985insT	AK000581	CCDS43071.1	3p22.1	2013-07-02	2013-07-02		ENSG00000168038	ENSG00000168038			15784	protein-coding gene	gene with protein product			"unc-51-like kinase 4 (C. elegans)"			12477932	Standard	NM_017886		Approved	FLJ20574, REC01035, FAM7C1	uc003ckv.4	Q96C45	OTTHUMG00000156210	ENST00000301831.4:c.1779dupA	3.37:g.41860994_41860994dupT	ENSP00000301831:p.Lys593fs						p.K593fs	NM_017886.2	NP_060356.2	Q96C45	ULK4_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.214)	19	2240_2241	-			593					A6NF15|Q8IW79|Q9NWV6|Q9UF96	Frame_Shift_Ins	INS	ENST00000301831.4	37	c.1778_1779insA	CCDS43071.1																																																																																				0.45	ULK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343490.1	XM_929989		7	86						7	86	---	---	---	---	T	41860985	-	T	41860984	7	5	219	1	0	1	1	0	0	0	0	0	16975	912	32	0	2124	0	ULK4	3	41860984	Frame_Shift_Ins	INS	-	TCGA-HC-7749-01A-11D-2114-08	32056322	41860984	156161446	14	10093											
TMPRSS7	344805	broad.mit.edu	37	chr3	111793168	111793168	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccatgcaacaacagaactttTaagtgtggcaatgatatttg	14	12	8	7	0	0	2	0	1	0	1	0	2	0	2	1	1	4	2	1	1	6	4			TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chr3:111793168T>A	ENST00000452346.2	+	14	1695	c.1692T>A	c.(1690-1692)ttT>ttA	p.F564L	TMPRSS7_ENST00000419127.1_Missense_Mutation_p.F438L			Q7RTY8	TMPS7_HUMAN	transmembrane protease, serine 7	564	LDL-receptor class A 3. {ECO:0000255|PROSITE-ProRule:PRU00124}.				proteolysis (GO:0006508)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			breast(2)|endometrium(6)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						ACAGAACTTTTAAGTGTGGCA	0.368																																						ENST00000452346.2																			0				breast(2)|endometrium(6)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						c.(1690-1692)ttT>ttA		transmembrane protease, serine 7							168	155	159					3																	111793168		1900	4111	6011	SO:0001583	missense	344805				proteolysis	integral to membrane|plasma membrane	serine-type endopeptidase activity	g.chr3:111793168T>A	BN000125	CCDS43129.2	3q13.2	2010-04-13	2004-03-16		ENSG00000176040	ENSG00000176040		"Serine peptidases / Transmembrane"	30846	protein-coding gene	gene with protein product			"type II transmembrane serine protease 7"			12838346	Standard	NM_001042575		Approved		uc010hqb.2	Q7RTY8	OTTHUMG00000157148	ENST00000452346.2:c.1692T>A	3.37:g.111793168T>A	ENSP00000398236:p.Phe564Leu					TMPRSS7_ENST00000419127.1_Missense_Mutation_p.F438L	p.F564L			Q7RTY8	TMPS7_HUMAN			14	1695	+			564			LDL-receptor class A 3.		C9J8P7|E9PAS3|Q17RH4	Missense_Mutation	SNP	ENST00000452346.2	37	c.1692T>A		.	.	.	.	.	.	.	.	.	.	T	17.79	3.476453	0.63737	.	.	ENSG00000176040	ENST00000452346;ENST00000443106;ENST00000437906;ENST00000419127	D;D	0.98889	-5.21;-5.21	6.17	2.6	0.31112	.	0.057135	0.64402	D	0.000001	D	0.97207	0.9087	M	0.76002	2.32	0.39556	D	0.969052	B;B	0.26975	0.165;0.042	B;B	0.31442	0.13;0.033	D	0.95075	0.8208	10	0.49607	T	0.09	.	6.9101	0.24331	0.0:0.3212:0.0:0.6788	.	564;438	Q7RTY8;Q7RTY8-2	TMPS7_HUMAN;.	L	564;552;538;438	ENSP00000398236:F564L;ENSP00000411645:F438L	ENSP00000411645:F438L	F	+	3	2	TMPRSS7	113275858	0.997000	0.39634	1.000000	0.80357	0.995000	0.86356	0.281000	0.18810	0.573000	0.29400	0.533000	0.62120	TTT		0.368	TMPRSS7-003	NOVEL	NAGNAG_splice_site|not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000347592.2	XM_293599		8	92	0	0	0	0.307466	0	8	92					A	111793168	T	A	111793168	3	1	219	1	0	0	0	0	1	0	0	0	16249	1751	61	5	1356	5	TMPRSS7	3	111793168	Missense_Mutation	SNP	T	TCGA-HC-7749-01A-11D-2114-08	69932184	111793168	86229262	15	10094											
ITGB5	3693	broad.mit.edu	37	chr3	124527930	124527930	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gataggataccccatcttggCaggtagcagtaaagaagaga	15	7	12	7	0	1	2	0	0	1	2	1	5	1	3	2	3	2	4	2	3	6	5			TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chr3:124527930C>G	ENST00000296181.4	-	9	1498	c.1202G>C	c.(1201-1203)tGc>tCc	p.C401S		NM_002213.3	NP_002204.2	P18084	ITB5_HUMAN	integrin, beta 5	401					antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cell-matrix adhesion (GO:0007160)|endodermal cell differentiation (GO:0035987)|epithelial cell-cell adhesion (GO:0090136)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|muscle contraction (GO:0006936)|stress fiber assembly (GO:0043149)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cell leading edge (GO:0031252)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integrin alphav-beta5 complex (GO:0034684)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	receptor activity (GO:0004872)			breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	30				GBM - Glioblastoma multiforme(114;0.163)		CCCATCTTGGCAGGTAGCAGT	0.473																																						ENST00000296181.4																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	30						c.(1201-1203)tGc>tCc		integrin, beta 5							130	129	130					3																	124527930		2203	4300	6503	SO:0001583	missense	3693				cell-matrix adhesion|integrin-mediated signaling pathway|multicellular organismal development|muscle contraction	integrin complex	receptor activity	g.chr3:124527930C>G	J05633	CCDS3030.1	3q21.2	2010-03-23			ENSG00000082781	ENSG00000082781		"Integrins"	6160	protein-coding gene	gene with protein product		147561				2211615	Standard	NM_002213		Approved		uc003eho.3	P18084	OTTHUMG00000159432	ENST00000296181.4:c.1202G>C	3.37:g.124527930C>G	ENSP00000296181:p.Cys401Ser					ITGB5_ENST00000488466.1_5'UTR	p.C401S	NM_002213.3	NP_002204.2	P18084	ITB5_HUMAN		GBM - Glioblastoma multiforme(114;0.163)	9	1498	-			401					B0LPF8|B2RD70	Missense_Mutation	SNP	ENST00000296181.4	37	c.1202G>C	CCDS3030.1	.	.	.	.	.	.	.	.	.	.	C	29.2	4.982989	0.93044	.	.	ENSG00000082781	ENST00000296181	D	0.95272	-3.66	5.63	5.63	0.86233	Integrin beta subunit, N-terminal (2);	0.000000	0.85682	D	0.000000	D	0.97660	0.9233	M	0.87682	2.9	0.80722	D	1	D	0.76494	0.999	D	0.79108	0.992	D	0.98139	1.0435	10	0.87932	D	0	.	19.2722	0.94015	0.0:1.0:0.0:0.0	.	401	P18084	ITB5_HUMAN	S	401	ENSP00000296181:C401S	ENSP00000296181:C401S	C	-	2	0	ITGB5	126010620	1.000000	0.71417	1.000000	0.80357	0.903000	0.53119	6.999000	0.76283	2.656000	0.90262	0.655000	0.94253	TGC		0.473	ITGB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355286.3	NM_002213		22	129	0	0	0	0.654019	0	22	129					G	124527930	C	G	124527930	3	3	219	1	0	0	0	0	1	0	0	0	7898	710	25	5	1225	5	ITGB5	3	124527930	Missense_Mutation	SNP	C	TCGA-HC-7749-01A-11D-2114-08	12734762	124527930	73494500	16	10095											
UROC1	131669	broad.mit.edu	37	chr3	126207086	126207086	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggcgacccaggtggctccgCgacaggcatctcccacgaag	8	4	14	15	4	1	0	0	0	1	0	3	3	2	0	3	4	0	2	3	4	1	0			TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chr3:126207086C>T	ENST00000290868.2	-	18	1798	c.1745G>A	c.(1744-1746)cGc>cAc	p.R582H	UROC1_ENST00000383579.3_Missense_Mutation_p.R642H	NM_144639.2	NP_653240.1	Q96N76	HUTU_HUMAN	urocanate hydratase 1	582					cellular nitrogen compound metabolic process (GO:0034641)|histidine catabolic process (GO:0006548)|histidine catabolic process to glutamate and formamide (GO:0019556)|histidine catabolic process to glutamate and formate (GO:0019557)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	urocanate hydratase activity (GO:0016153)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(1)|skin(1)	39				GBM - Glioblastoma multiforme(114;0.17)		GGTGGCTCCGCGACAGGCATC	0.612																																						ENST00000290868.2																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(1)|skin(1)	39						c.(1744-1746)cGc>cAc		urocanate hydratase 1							133	131	132					3																	126207086		2203	4300	6503	SO:0001583	missense	131669				histidine catabolic process	cytosol	urocanate hydratase activity	g.chr3:126207086C>T	AK055862	CCDS3038.1, CCDS54636.1	3q21.2	2012-08-21	2012-08-21		ENSG00000159650	ENSG00000159650	4.2.1.49		26444	protein-coding gene	gene with protein product	"urocanase 1"	613012	"urocanase domain containing 1"			19304569	Standard	NM_144639		Approved	FLJ31300, HMFN0320	uc010hsi.2	Q96N76	OTTHUMG00000162753	ENST00000290868.2:c.1745G>A	3.37:g.126207086C>T	ENSP00000290868:p.Arg582His					UROC1_ENST00000383579.3_Missense_Mutation_p.R642H	p.R582H	NM_144639.2	NP_653240.1	Q96N76	HUTU_HUMAN		GBM - Glioblastoma multiforme(114;0.17)	18	1798	-			582					E9PE13|Q14C64|Q68CJ7	Missense_Mutation	SNP	ENST00000290868.2	37	c.1745G>A	CCDS3038.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.293710	0.80914	.	.	ENSG00000159650	ENST00000290868;ENST00000383579	T;T	0.46451	0.87;0.87	5.46	5.46	0.80206	Urocanase domain (2);	0.000000	0.85682	D	0.000000	T	0.75376	0.3841	H	0.95745	3.715	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.998;1.0	T	0.83235	-0.0061	10	0.87932	D	0	-13.3842	16.7908	0.85589	0.0:1.0:0.0:0.0	.	642;582	E9PE13;Q96N76	.;HUTU_HUMAN	H	582;642	ENSP00000290868:R582H;ENSP00000373073:R642H	ENSP00000290868:R582H	R	-	2	0	UROC1	127689776	1.000000	0.71417	0.741000	0.31004	0.419000	0.31324	6.909000	0.75735	2.555000	0.86185	0.591000	0.81541	CGC		0.612	UROC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370325.2	NM_144639		6	175	0	0	0	0.248553	0	6	175					T	126207086	C	T	126207086	3	4	219	1	0	0	0	0	1	0	0	0	17025	768	27	1	297	1	UROC1	3	126207086	Missense_Mutation	SNP	C	TCGA-HC-7749-01A-11D-2114-08	1679156	126207086	71815344	17	10096											
TRIM42	287015	broad.mit.edu	37	chr3	140406842	140406842	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ccctgaaggagactggccagGtggcattcctgcagtcagcc	8	7	13	13	0	1	2	1	1	0	1	2	3	2	2	4	4	2	2	4	4	1	1			TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chr3:140406842G>A	ENST00000286349.3	+	3	1509	c.1318G>A	c.(1318-1320)Gtg>Atg	p.V440M		NM_152616.4	NP_689829.3	Q8IWZ5	TRI42_HUMAN	tripartite motif containing 42	440	COS. {ECO:0000255|PROSITE- ProRule:PRU00586}.					intracellular (GO:0005622)	zinc ion binding (GO:0008270)	p.V440L(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(11)|lung(33)|ovary(2)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						GACTGGCCAGGTGGCATTCCT	0.517																																						ENST00000286349.3																			1	Substitution - Missense(1)	p.V440L(1)	lung(1)	breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(11)|lung(33)|ovary(2)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						c.(1318-1320)Gtg>Atg		tripartite motif containing 42							69	59	63					3																	140406842		2203	4300	6503	SO:0001583	missense	287015					intracellular	zinc ion binding	g.chr3:140406842G>A	AF521868	CCDS3113.1	3q23	2014-02-17	2011-01-25		ENSG00000155890	ENSG00000155890		"Tripartite motif containing / Tripartite motif containing", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "Fibronectin type III domain containing", "RING-type (C3HC4) zinc fingers"	19014	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 40"		"tripartite motif-containing 42"				Standard	NM_152616		Approved	FLJ40097, PPP1R40	uc003eto.2	Q8IWZ5	OTTHUMG00000160170	ENST00000286349.3:c.1318G>A	3.37:g.140406842G>A	ENSP00000286349:p.Val440Met						p.V440M	NM_152616.4	NP_689829.3	Q8IWZ5	TRI42_HUMAN			3	1509	+			440			COS.		A1L4B4|Q8N832|Q8NDL3	Missense_Mutation	SNP	ENST00000286349.3	37	c.1318G>A	CCDS3113.1	.	.	.	.	.	.	.	.	.	.	G	19.13	3.768462	0.69878	.	.	ENSG00000155890	ENST00000286349	T	0.41065	1.01	5.48	5.48	0.80851	COS domain (1);	0.103846	0.42420	N	0.000714	T	0.52677	0.1749	L	0.29908	0.895	0.36320	D	0.858201	D	0.71674	0.998	D	0.81914	0.995	T	0.60052	-0.7338	10	0.59425	D	0.04	-25.7256	15.2061	0.73180	0.0:0.0:1.0:0.0	.	440	Q8IWZ5	TRI42_HUMAN	M	440	ENSP00000286349:V440M	ENSP00000286349:V440M	V	+	1	0	TRIM42	141889532	0.958000	0.32768	0.993000	0.49108	0.981000	0.71138	1.392000	0.34486	2.749000	0.94314	0.655000	0.94253	GTG		0.517	TRIM42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359531.2	NM_152616		6	57	0	0	0	0.248553	0	6	57					A	140406842	G	A	140406842	3	1	219	1	0	0	0	0	1	0	0	0	16514	1261	44	3	1328	3	TRIM42	3	140406842	Missense_Mutation	SNP	G	TCGA-HC-7749-01A-11D-2114-08	14199756	140406842	57615588	18	10097											
KLHL6	89857	broad.mit.edu	37	chr3	183273149	183273149	+	Splice_Site	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggtcctaggcatgctgacCtgaaatagttgctggctgcg	7	11	13	10	1	0	2	0	2	0	0	1	2	1	2	2	3	3	5	2	3	3	3			TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chr3:183273149C>G	ENST00000341319.3	-	1	328	c.293G>C	c.(292-294)aGg>aCg	p.R98T		NM_130446.2	NP_569713.2	Q8WZ60	KLHL6_HUMAN	kelch-like family member 6	98	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				B cell receptor signaling pathway (GO:0050853)|germinal center formation (GO:0002467)					breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(7)|kidney(1)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	44	all_cancers(143;9.2e-12)|Ovarian(172;0.0172)		all cancers(12;1.29e-44)|Epithelial(37;1.24e-38)|LUSC - Lung squamous cell carcinoma(7;2.58e-24)|Lung(8;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.32e-22)			GCATGCTGACCTGAAATAGTT	0.493																																						ENST00000341319.3																			0				breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(7)|kidney(1)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						c.e1+1		kelch-like family member 6							79	70	73					3																	183273149		2203	4300	6503	SO:0001630	splice_region_variant	89857							g.chr3:183273149C>G	AF441792	CCDS3245.2	3q27.3	2013-01-30	2013-01-30		ENSG00000172578	ENSG00000172578		"Kelch-like", "BTB/POZ domain containing"	18653	protein-coding gene	gene with protein product	"kelch-like protein KLHL6"	614214	"kelch-like 6 (Drosophila)"			11214971, 12617994	Standard	NM_130446		Approved	FLJ00029	uc003flr.3	Q8WZ60	OTTHUMG00000148673	ENST00000341319.3:c.293+1G>C	3.37:g.183273149C>G							p.R98_splice	NM_130446.2	NP_569713.2	Q8WZ60	KLHL6_HUMAN	all cancers(12;1.29e-44)|Epithelial(37;1.24e-38)|LUSC - Lung squamous cell carcinoma(7;2.58e-24)|Lung(8;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.32e-22)		1	328	-	all_cancers(143;9.2e-12)|Ovarian(172;0.0172)		98			BTB.		B2RB31|D3DNS8|Q8N5I1|Q8N892	Splice_Site	SNP	ENST00000341319.3	37	c.293_splice	CCDS3245.2	.	.	.	.	.	.	.	.	.	.	C	28.1	4.892718	0.91889	.	.	ENSG00000172578	ENST00000341319	T	0.69685	-0.42	5.52	5.52	0.82312	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.000000	0.85682	D	0.000000	D	0.83894	0.5353	M	0.82517	2.595	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.84572	0.0656	9	.	.	.	.	19.505	0.95111	0.0:1.0:0.0:0.0	.	98	Q8WZ60	KLHL6_HUMAN	T	98	ENSP00000341342:R98T	.	R	-	2	0	KLHL6	184755843	1.000000	0.71417	1.000000	0.80357	0.905000	0.53344	6.276000	0.72601	2.604000	0.88044	0.650000	0.86243	AGG		0.493	KLHL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309024.1	NM_130446	Missense_Mutation	7	94	0	0	0	0.248553	0	7	94					G	183273149	C	G	183273149	5	3	219	1	0	0	0	0	0	0	1	0	8393	695	24	5	1600	5	KLHL6	3	183273149	Splice_Site	SNP	C	TCGA-HC-7749-01A-11D-2114-08	42866307	183273149	14749281	19	10098											
CLRN2	645104	broad.mit.edu	37	chr4	17528619	17528619	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccatgctgcaaacttggtcGtggtggcgatcagtcaaatt	9	11	11	10	2	2	0	2	0	0	0	3	1	2	0	1	3	3	2	1	3	2	2			TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chr4:17528619G>A	ENST00000511148.2	+	3	715	c.613G>A	c.(613-615)Gtg>Atg	p.V205M	snoU13_ENST00000459186.1_RNA	NM_001079827.2	NP_001073296.1	A0PK11	CLRN2_HUMAN	clarin 2	205						integral component of membrane (GO:0016021)				breast(1)|kidney(1)|large_intestine(3)|lung(8)|pancreas(1)|upper_aerodigestive_tract(1)	15						AAACTTGGTCGTGGTGGCGAT	0.507																																						ENST00000511148.2																			0				breast(1)|kidney(1)|large_intestine(3)|lung(8)|pancreas(1)|upper_aerodigestive_tract(1)	15						c.(613-615)Gtg>Atg		clarin 2							119	126	123					4																	17528619		2169	4263	6432	SO:0001583	missense	645104					integral to membrane		g.chr4:17528619G>A		CCDS47032.1	4p15.32	2008-01-17			ENSG00000249581	ENSG00000249581			33939	protein-coding gene	gene with protein product						12080385	Standard	NM_001079827		Approved		uc003gpg.1	A0PK11	OTTHUMG00000160273	ENST00000511148.2:c.613G>A	4.37:g.17528619G>A	ENSP00000424711:p.Val205Met						p.V205M	NM_001079827.2	NP_001073296.1	A0PK11	CLRN2_HUMAN			3	715	+			205						Missense_Mutation	SNP	ENST00000511148.2	37	c.613G>A	CCDS47032.1	.	.	.	.	.	.	.	.	.	.	G	18.25	3.581684	0.65992	.	.	ENSG00000249581	ENST00000511148	T	0.76709	-1.04	5.76	5.76	0.90799	.	0.061924	0.64402	D	0.000005	T	0.78142	0.4237	L	0.47716	1.5	0.44603	D	0.997575	D	0.57899	0.981	P	0.49799	0.622	T	0.80228	-0.1469	10	0.72032	D	0.01	-21.8326	14.1962	0.65672	0.0:0.2632:0.7368:0.0	.	205	A0PK11	CLRN2_HUMAN	M	205	ENSP00000424711:V205M	ENSP00000424711:V205M	V	+	1	0	CLRN2	17137717	1.000000	0.71417	0.946000	0.38457	0.498000	0.33706	4.333000	0.59285	2.736000	0.93811	0.655000	0.94253	GTG		0.507	CLRN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359990.2	NM_001079827		3	74	0	0	0	0.115264	0	3	74					A	17528619	G	A	17528619	3	1	219	1	0	0	0	0	1	0	0	0	3558	1145	40	1	623	1	CLRN2	4	17528619	Missense_Mutation	SNP	G	TCGA-HC-7749-01A-11D-2114-08		17528619	173625657	20	10099											
PPP3CA	5530	broad.mit.edu	37	chr4	102001731	102001731	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtaatttggtgctgaaaaaaTtgtaattagagaagggaagc	16	11	12	2	0	0	2	0	1	0	1	0	4	0	3	0	2	2	3	0	2	8	5			TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chr4:102001731T>A	ENST00000394854.3	-	8	1596	c.913A>T	c.(913-915)Att>Ttt	p.I305F	PPP3CA_ENST00000323055.6_Missense_Mutation_p.I305F|PPP3CA_ENST00000507176.1_Missense_Mutation_p.I207F|PPP3CA_ENST00000394853.4_Missense_Mutation_p.I305F|PPP3CA_ENST00000512215.1_Intron|PPP3CA_ENST00000523694.2_Missense_Mutation_p.I238F	NM_000944.4	NP_000935.1	Q08209	PP2BA_HUMAN	protein phosphatase 3, catalytic subunit, alpha isozyme	305					calcineurin-NFAT signaling cascade (GO:0033173)|calcium ion transport (GO:0006816)|cellular response to drug (GO:0035690)|cellular response to glucose stimulus (GO:0071333)|dephosphorylation (GO:0016311)|Fc-epsilon receptor signaling pathway (GO:0038095)|G1/S transition of mitotic cell cycle (GO:0000082)|innate immune response (GO:0045087)|multicellular organismal response to stress (GO:0033555)|negative regulation of insulin secretion (GO:0046676)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein dephosphorylation (GO:0006470)|protein import into nucleus (GO:0006606)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of synaptic transmission (GO:0050804)|response to amphetamine (GO:0001975)|response to calcium ion (GO:0051592)|skeletal muscle fiber development (GO:0048741)|T cell activation (GO:0042110)|transition between fast and slow fiber (GO:0014883)	calcineurin complex (GO:0005955)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|calmodulin-dependent protein phosphatase activity (GO:0033192)|drug binding (GO:0008144)|enzyme binding (GO:0019899)|protein dimerization activity (GO:0046983)|protein serine/threonine phosphatase activity (GO:0004722)			breast(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	20				OV - Ovarian serous cystadenocarcinoma(123;6.79e-08)		GCTGAAAAAATTGTAATTAGA	0.313																																						ENST00000394854.3																			0				breast(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	20						c.(913-915)Att>Ttt		protein phosphatase 3, catalytic subunit, alpha isozyme							75	75	75					4																	102001731		2202	4298	6500	SO:0001583	missense	5530				protein dephosphorylation	calcineurin complex|cytosol|nucleus	calcium ion binding|calmodulin binding	g.chr4:102001731T>A		CCDS34037.1, CCDS47113.1, CCDS47114.1	4q24	2010-03-17	2010-03-05		ENSG00000138814	ENSG00000138814	3.1.3.16	"Serine/threonine phosphatases / Protein phosphatase, catalytic subunits"	9314	protein-coding gene	gene with protein product	"calcineurin A alpha", "protein phosphatase 2B, catalytic subunit, alpha isoform"	114105	"protein phosphatase 3 (formerly 2B), catalytic subunit, alpha isoform (calcineurin A alpha)", "protein phosphatase 3 (formerly 2B), catalytic subunit, alpha isoform"	CALN, CALNA		2848250, 1659808	Standard	NM_000944		Approved	CNA1, PPP2B	uc011cen.1	Q08209	OTTHUMG00000133839	ENST00000394854.3:c.913A>T	4.37:g.102001731T>A	ENSP00000378323:p.Ile305Phe					PPP3CA_ENST00000323055.6_Missense_Mutation_p.I305F|PPP3CA_ENST00000523694.2_Missense_Mutation_p.I238F|PPP3CA_ENST00000512215.1_Intron|PPP3CA_ENST00000507176.1_Missense_Mutation_p.I207F|PPP3CA_ENST00000394853.4_Missense_Mutation_p.I305F	p.I305F	NM_000944.4	NP_000935.1	Q08209	PP2BA_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;6.79e-08)	8	1596	-			305					A1A441|A8K3B7|A8W6Z7|A8W6Z8|B5BUA2|Q8TAW9	Missense_Mutation	SNP	ENST00000394854.3	37	c.913A>T	CCDS34037.1	.	.	.	.	.	.	.	.	.	.	T	25.4	4.632620	0.87660	.	.	ENSG00000138814	ENST00000394854;ENST00000323055;ENST00000394853;ENST00000507176;ENST00000523694	T;T;T;T;T	0.09350	2.99;2.99;2.99;2.99;2.99	5.39	5.39	0.77823	Serine/threonine-specific protein phosphatase/bis(5-nucleosyl)-tetraphosphatase (2);	0.240511	0.38663	N	0.001615	T	0.43590	0.1254	M	0.93978	3.48	0.80722	D	1	D;D;D;D;D	0.71674	0.994;0.997;0.998;0.998;0.997	P;D;D;P;P	0.70016	0.903;0.967;0.955;0.888;0.879	T	0.58719	-0.7587	10	0.87932	D	0	-9.8314	15.4421	0.75190	0.0:0.0:0.0:1.0	.	305;305;305;207;238	Q08209;A8W6Z7;Q08209-2;E7ETC2;A1A441	PP2BA_HUMAN;.;.;.;.	F	305;305;305;207;238	ENSP00000378323:I305F;ENSP00000320580:I305F;ENSP00000378322:I305F;ENSP00000422990:I207F;ENSP00000429350:I238F	ENSP00000320580:I305F	I	-	1	0	PPP3CA	102220754	1.000000	0.71417	0.995000	0.50966	0.852000	0.48524	7.751000	0.85126	2.054000	0.61138	0.533000	0.62120	ATT		0.313	PPP3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000258379.2	NM_000944		23	35	0	0	0	0.706142	0	23	35					A	102001731	T	A	102001731	3	1	219	1	0	0	0	0	1	0	0	0	12397	1493	52	5	680	5	PPP3CA	4	102001731	Missense_Mutation	SNP	T	TCGA-HC-7749-01A-11D-2114-08	84473112	102001731	89152545	21	10100											
ESM1	11082	broad.mit.edu	37	chr5	54281325	54281325	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gcaggcacgaggagcgtggtCagcagcaagacgctcttcat	10	6	14	11	3	3	1	2	0	1	1	3	3	3	2	0	3	3	5	0	3	1	1			TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chr5:54281325C>G	ENST00000381405.4	-	1	166	c.21G>C	c.(19-21)ctG>ctC	p.L7L	ESM1_ENST00000381403.4_Silent_p.L7L|ESM1_ENST00000598310.1_Intron	NM_007036.4	NP_008967.1	Q9NQ30	ESM1_HUMAN	endothelial cell-specific molecule 1	7					angiogenesis (GO:0001525)|positive regulation of cell proliferation (GO:0008284)|positive regulation of hepatocyte growth factor receptor signaling pathway (GO:1902204)|regulation of cell growth (GO:0001558)|sprouting angiogenesis (GO:0002040)	extracellular region (GO:0005576)	hepatocyte growth factor receptor binding (GO:0005171)|integrin binding (GO:0005178)			breast(1)|kidney(1)|large_intestine(4)|lung(4)	10		Lung NSC(810;4.08e-05)|Breast(144;0.0433)|Prostate(74;0.116)	Lung(15;0.23)			GGAGCGTGGTCAGCAGCAAGA	0.597																																						ENST00000381405.4																			0				breast(1)|kidney(1)|large_intestine(4)|lung(4)	10						c.(19-21)ctG>ctC		endothelial cell-specific molecule 1							37	36	36					5																	54281325		2203	4300	6503	SO:0001819	synonymous_variant	11082				angiogenesis|regulation of cell growth	extracellular region	growth factor activity|insulin-like growth factor binding	g.chr5:54281325C>G	X89426	CCDS3963.1, CCDS47206.1	5q11	2008-02-05			ENSG00000164283	ENSG00000164283			3466	protein-coding gene	gene with protein product		601521				8702785	Standard	NM_001135604		Approved		uc003jpk.3	Q9NQ30	OTTHUMG00000097010	ENST00000381405.4:c.21G>C	5.37:g.54281325C>G						ESM1_ENST00000381403.4_Silent_p.L7L|ESM1_ENST00000598310.1_Intron	p.L7L	NM_007036.4	NP_008967.1	Q9NQ30	ESM1_HUMAN	Lung(15;0.23)		1	166	-		Lung NSC(810;4.08e-05)|Breast(144;0.0433)|Prostate(74;0.116)	7					B2R4G3|Q15330|Q3V4E3|Q96ES3	Silent	SNP	ENST00000381405.4	37	c.21G>C	CCDS3963.1																																																																																				0.597	ESM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214099.2	NM_007036		3	65	0	0	0	0.150653	0	3	65					G	54281325	C	G	54281325	2	3	219	1	0	0	0	0	0	0	0	1	5252	813	29	5		5	ESM1	5	54281325	Silent	SNP	C	TCGA-HC-7749-01A-11D-2114-08		54281325	126633935	22	10101											
TCERG1	10915	broad.mit.edu	37	chr5	145834701	145834701	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gaggcccaccacctctgatgCgacctcctccaccttttggt	6	10	8	17	1	1	1	0	1	1	0	3	3	3	1	7	2	1	0	7	2	0	2			TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chr5:145834701C>T	ENST00000296702.5	+	2	180	c.142C>T	c.(142-144)Cga>Tga	p.R48*	TCERG1_ENST00000394421.2_Nonsense_Mutation_p.R48*	NM_006706.3	NP_006697.2	O14776	TCRG1_HUMAN	transcription elongation regulator 1	48	Pro-rich.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA polymerase II repressing transcription factor binding (GO:0001103)|RNA polymerase II transcription corepressor activity (GO:0001106)|transcription coactivator activity (GO:0003713)	p.R48*(1)		breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(18)|lung(9)|ovary(2)|prostate(3)|skin(1)	46		Lung NSC(249;0.00188)|all_lung(500;0.00307)|all_neural(839;0.0424)|Breast(839;0.0743)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ACCTCTGATGCGACCTCCTCC	0.607																																						ENST00000296702.5																			1	Substitution - Nonsense(1)	p.R48*(1)	large_intestine(1)	breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(18)|lung(9)|ovary(2)|prostate(3)|skin(1)	46						c.(142-144)Cga>Tga		transcription elongation regulator 1							116	114	115					5																	145834701		2203	4300	6503	SO:0001587	stop_gained	10915				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	protein binding|transcription coactivator activity	g.chr5:145834701C>T	AF017789	CCDS4282.1, CCDS43379.1	5q31	2010-01-25	2002-01-24	2002-01-25	ENSG00000113649	ENSG00000113649			15630	protein-coding gene	gene with protein product	"transcription factor CA150", "co-activator of 150 kDa", "TATA box binding protein (TBP)-associated factor, RNA polymerase II, S, 150kD", "TATA box-binding protein-associated factor 2S"	605409	"TATA box binding protein (TBP)-associated factor, RNA polymerase II, S, 150kD"	TAF2S		9315662, 11003711	Standard	XM_005268365		Approved	CA150, Urn1	uc003lob.3	O14776	OTTHUMG00000129683	ENST00000296702.5:c.142C>T	5.37:g.145834701C>T	ENSP00000296702:p.Arg48*					TCERG1_ENST00000394421.2_Nonsense_Mutation_p.R48*	p.R48*	NM_006706.3	NP_006697.2	O14776	TCRG1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		2	180	+		Lung NSC(249;0.00188)|all_lung(500;0.00307)|all_neural(839;0.0424)|Breast(839;0.0743)	48			Pro-rich.		Q2NKN2|Q59EA1	Nonsense_Mutation	SNP	ENST00000296702.5	37	c.142C>T	CCDS4282.1	.	.	.	.	.	.	.	.	.	.	C	28.8	4.951205	0.92660	.	.	ENSG00000113649	ENST00000296702;ENST00000394421	.	.	.	5.4	1.4	0.22301	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-13.0549	15.203	0.73157	0.4566:0.5434:0.0:0.0	.	.	.	.	X	48	.	ENSP00000296702:R48X	R	+	1	2	TCERG1	145814894	1.000000	0.71417	0.999000	0.59377	0.959000	0.62525	1.700000	0.37815	0.061000	0.16311	0.563000	0.77884	CGA		0.607	TCERG1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251886.1	NM_001040006		4	225	0	0	0	0.184627	0	4	225					T	145834701	C	T	145834701	4	4	219	1	0	0	0	0	0	1	0	0	15682	760	27	1	148	1	TCERG1	5	145834701	Nonsense_Mutation	SNP	C	TCGA-HC-7749-01A-11D-2114-08	91553376	145834701	35080559	23	10102											
SYNPO	11346	broad.mit.edu	37	chr5	150029504	150029504	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctgagaacggggtcctgcGcccagagcccaccaagcagc	9	3	13	16	2	0	2	0	1	0	2	1	3	1	2	5	2	5	1	5	2	2	0			TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chr5:150029504G>A	ENST00000394243.1	+	3	2773	c.2399G>A	c.(2398-2400)cGc>cAc	p.R800H	SYNPO_ENST00000519664.1_Missense_Mutation_p.R556H|SYNPO_ENST00000307662.4_Missense_Mutation_p.R556H|SYNPO_ENST00000522122.1_Missense_Mutation_p.R800H	NM_001166208.1	NP_001159680.1	Q8N3V7	SYNPO_HUMAN	synaptopodin	800	Pro-rich.				positive regulation of actin filament bundle assembly (GO:0032233)|regulation of stress fiber assembly (GO:0051492)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|postsynaptic membrane (GO:0045211)|stress fiber (GO:0001725)|tight junction (GO:0005923)	actin binding (GO:0003779)			NS(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(4)|prostate(1)|urinary_tract(2)	18		Medulloblastoma(196;0.134)|all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GGGGTCCTGCGCCCAGAGCCC	0.667																																						ENST00000394243.1																			0				NS(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(4)|prostate(1)|urinary_tract(2)	18						c.(2398-2400)cGc>cAc		synaptopodin							62	79	73					5																	150029504		2203	4300	6503	SO:0001583	missense	11346				positive regulation of actin filament bundle assembly|regulation of stress fiber assembly	actin cytoskeleton|cytoplasm|dendritic spine|perikaryon|postsynaptic density|postsynaptic membrane|tight junction	actin binding|protein binding	g.chr5:150029504G>A	AF499137	CCDS4308.1, CCDS54937.1, CCDS54938.1	5q33.1	2008-02-05			ENSG00000171992	ENSG00000171992			30672	protein-coding gene	gene with protein product		608155				9314539, 10470851	Standard	NM_007286		Approved	KIAA1029	uc003lsn.3	Q8N3V7	OTTHUMG00000130078	ENST00000394243.1:c.2399G>A	5.37:g.150029504G>A	ENSP00000377789:p.Arg800His					SYNPO_ENST00000522122.1_Missense_Mutation_p.R800H|SYNPO_ENST00000307662.4_Missense_Mutation_p.R556H|SYNPO_ENST00000519664.1_Missense_Mutation_p.R556H	p.R800H	NM_001166208.1	NP_001159680.1	Q8N3V7	SYNPO_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		3	2773	+		Medulloblastoma(196;0.134)|all_hematologic(541;0.224)	800			Pro-rich.		A5PKZ8|D3DQG8|O15271|Q9UPX1	Missense_Mutation	SNP	ENST00000394243.1	37	c.2399G>A	CCDS54937.1	.	.	.	.	.	.	.	.	.	.	G	16.30	3.083373	0.55861	.	.	ENSG00000171992	ENST00000394243;ENST00000522122;ENST00000307662;ENST00000519664	T;T;T	0.24350	1.86;1.86;1.86	5.06	4.19	0.49359	.	0.000000	0.50627	D	0.000106	T	0.34164	0.0888	L	0.36672	1.1	0.34198	D	0.672871	B;D	0.89917	0.067;1.0	B;D	0.67725	0.011;0.953	T	0.47058	-0.9146	10	0.51188	T	0.08	-17.4588	6.874	0.24137	0.3087:0.0:0.6913:0.0	.	556;800	Q8N3V7-2;Q8N3V7	.;SYNPO_HUMAN	H	800;800;556;556	ENSP00000377789:R800H;ENSP00000428378:R800H;ENSP00000429268:R556H	ENSP00000302139:R556H	R	+	2	0	SYNPO	150009697	1.000000	0.71417	0.997000	0.53966	0.969000	0.65631	1.992000	0.40737	1.128000	0.42052	0.462000	0.41574	CGC		0.667	SYNPO-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252371.1	NM_007286		32	160	0	0	0	0.804634	0	32	160					A	150029504	G	A	150029504	3	1	219	1	0	0	0	0	1	0	0	0	15453	1087	38	1	2405	1	SYNPO	5	150029504	Missense_Mutation	SNP	G	TCGA-HC-7749-01A-11D-2114-08	4194803	150029504	30885756	24	10103											
FAT2	2196	broad.mit.edu	37	chr5	150891839	150891839	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctccagcaagcctgccaccGtcttgccaggggccagcaga	8	6	11	16	1	2	1	0	0	2	1	3	1	2	1	6	2	5	2	6	2	1	1	rs140427755		TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chr5:150891839G>A	ENST00000261800.5	-	20	11804	c.11792C>T	c.(11791-11793)aCg>aTg	p.T3931M	CTC-251D13.1_ENST00000606930.1_RNA	NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	3931	Laminin G-like. {ECO:0000255|PROSITE- ProRule:PRU00122}.				epithelial cell migration (GO:0010631)|homophilic cell adhesion (GO:0007156)	cell-cell adherens junction (GO:0005913)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GCCTGCCACCGTCTTGCCAGG	0.577																																						ENST00000261800.5																			0				NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196						c.(11791-11793)aCg>aTg		FAT atypical cadherin 2		G	MET/THR	1,4405	2.1+/-5.4	0,1,2202	67	63	64		11792	-1.7	0	5	dbSNP_134	64	0,8600		0,0,4300	no	missense	FAT2	NM_001447.2	81	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	3931/4350	150891839	1,13005	2203	4300	6503	SO:0001583	missense	2196				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding	g.chr5:150891839G>A	AF231022	CCDS4317.1	5q33.1	2014-07-21	2013-05-31		ENSG00000086570	ENSG00000086570		"Cadherins / Cadherin-related"	3596	protein-coding gene	gene with protein product	"cadherin-related family member 9"	604269	"FAT tumor suppressor (Drosophila) homolog 2", "FAT tumor suppressor homolog 2 (Drosophila)"			9693030	Standard	NM_001447		Approved	MEGF1, CDHF8, HFAT2, CDHR9	uc003lue.4	Q9NYQ8	OTTHUMG00000130126	ENST00000261800.5:c.11792C>T	5.37:g.150891839G>A	ENSP00000261800:p.Thr3931Met					CTC-251D13.1_ENST00000606930.1_RNA	p.T3931M	NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		20	11804	-		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	3931			Laminin G-like.		O75091|Q9NSR7	Missense_Mutation	SNP	ENST00000261800.5	37	c.11792C>T	CCDS4317.1	.	.	.	.	.	.	.	.	.	.	G	6.034	0.374581	0.11409	2.27E-4	0.0	ENSG00000086570	ENST00000261800	T	0.71817	-0.6	5.16	-1.71	0.08133	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (1);	0.796847	0.10985	N	0.612300	T	0.37839	0.1018	N	0.08118	0	0.09310	N	1	P;D	0.56287	0.876;0.975	B;B	0.36989	0.13;0.238	T	0.39187	-0.9626	10	0.40728	T	0.16	.	1.5384	0.02550	0.1142:0.2189:0.281:0.3859	.	3931;1036	Q9NYQ8;E9PDJ8	FAT2_HUMAN;.	M	3931	ENSP00000261800:T3931M	ENSP00000261800:T3931M	T	-	2	0	FAT2	150872032	0.008000	0.16893	0.000000	0.03702	0.032000	0.12392	0.268000	0.18571	-0.458000	0.07023	-0.732000	0.03574	ACG		0.577	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252434.1	NM_001447		7	101	0	0	0	0.248553	0	7	101					A	150891839	G	A	150891839	3	1	219	1	0	0	0	0	1	0	0	0	5690	1145	40	1	1273	1	FAT2	5	150891839	Missense_Mutation	SNP	G	TCGA-HC-7749-01A-11D-2114-08	862335	150891839	30023421	25	10104											
HLA-E	3133	broad.mit.edu	37	chr6	30459140	30459140	+	Silent	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagaggagcagagatacacGtgccatgtgcagcatgaggg	12	5	17	7	1	0	3	0	1	0	2	0	6	0	4	1	3	5	3	1	3	1	1			TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chr6:30459140G>C	ENST00000376630.4	+	4	902	c.837G>C	c.(835-837)acG>acC	p.T279T		NM_005516.5	NP_005507.3	P13747	HLAE_HUMAN	major histocompatibility complex, class I, E	279	Alpha-3.|Ig-like C1-type.				antigen processing and presentation of endogenous peptide antigen via MHC class Ib (GO:0002476)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytokine-mediated signaling pathway (GO:0019221)|innate immune response (GO:0045087)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of natural killer cell mediated immunity (GO:0002717)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|protection from natural killer cell mediated cytotoxicity (GO:0042270)|regulation of immune response (GO:0050776)|type I interferon signaling pathway (GO:0060337)	cell surface (GO:0009986)|early endosome membrane (GO:0031901)|ER to Golgi transport vesicle membrane (GO:0012507)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|MHC class I protein complex (GO:0042612)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)	MHC class I protein binding (GO:0042288)|peptide antigen binding (GO:0042605)			breast(2)|central_nervous_system(4)|endometrium(1)|kidney(3)|large_intestine(2)|lung(1)|ovary(3)|skin(1)|urinary_tract(1)	18						AGAGATACACGTGCCATGTGC	0.622																																						ENST00000376630.4																			0				breast(2)|central_nervous_system(4)|endometrium(1)|kidney(3)|large_intestine(2)|lung(1)|ovary(3)|skin(1)|urinary_tract(1)	18						c.(835-837)acG>acC		major histocompatibility complex, class I, E							95	83	87					6																	30459140		1511	2709	4220	SO:0001819	synonymous_variant	3133				antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|regulation of immune response|type I interferon-mediated signaling pathway	integral to membrane|MHC class I protein complex	MHC class I receptor activity	g.chr6:30459140G>C	M20022	CCDS34379.1	6p21.3	2013-01-11			ENSG00000204592	ENSG00000204592		"Histocompatibility complex", "Immunoglobulin superfamily / C1-set domain containing"	4962	protein-coding gene	gene with protein product		143010				3131426	Standard	NM_005516		Approved		uc003nqg.3	P13747	OTTHUMG00000031155	ENST00000376630.4:c.837G>C	6.37:g.30459140G>C							p.T279T	NM_005516.5	NP_005507.3	P13747	HLAE_HUMAN			4	902	+			279			Alpha-3.|Ig-like C1-type.		Q30169|Q9BT83|Q9GIY7|Q9GIY8	Silent	SNP	ENST00000376630.4	37	c.837G>C	CCDS34379.1																																																																																				0.622	HLA-E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076282.2	NM_005516		3	104	0	0	0	0.115264	0	3	104					C	30459140	G	C	30459140	2	2	219	1	0	0	0	0	0	0	0	1	7210	1132	40	5		5	HLA-E	6	30459140	Silent	SNP	G	TCGA-HC-7749-01A-11D-2114-08		30459140	140655927	26	10105											
RUNX2	860	broad.mit.edu	37	chr6	45390482	45390482	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agcaacagcagcagcagcagCaggaggcggcggcggcggct	10	1	18	12	4	0	0	0	0	0	0	0	1	0	1	0	6	7	7	0	6	1	0			TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chr6:45390482C>G	ENST00000371438.1	+	2	569	c.211C>G	c.(211-213)Cag>Gag	p.Q71E	RUNX2_ENST00000352853.5_Missense_Mutation_p.Q139E|RUNX2_ENST00000359524.5_Missense_Mutation_p.Q57E|RUNX2_ENST00000465038.2_Missense_Mutation_p.Q71E|RP1-244F24.1_ENST00000606796.1_RNA|RUNX2_ENST00000371436.6_Missense_Mutation_p.Q71E|RUNX2_ENST00000541979.1_Missense_Mutation_p.Q139E|RUNX2_ENST00000576263.1_Missense_Mutation_p.Q71E|RUNX2_ENST00000371432.3_Missense_Mutation_p.Q57E	NM_001024630.3	NP_001019801.3	Q13950	RUNX2_HUMAN	runt-related transcription factor 2	71	Poly-Gln.				BMP signaling pathway (GO:0030509)|cell maturation (GO:0048469)|cellular response to BMP stimulus (GO:0071773)|chondrocyte development (GO:0002063)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic forelimb morphogenesis (GO:0035115)|endochondral ossification (GO:0001958)|gene expression (GO:0010467)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription, DNA-templated (GO:0045892)|odontogenesis of dentin-containing tooth (GO:0042475)|ossification (GO:0001503)|osteoblast development (GO:0002076)|osteoblast differentiation (GO:0001649)|osteoblast fate commitment (GO:0002051)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus (GO:1901522)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|regulation of odontogenesis of dentin-containing tooth (GO:0042487)|stem cell differentiation (GO:0048863)|T cell differentiation (GO:0030217)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						gcagcagcagcaggaggcggc	0.716																																						ENST00000371438.1																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						c.(211-213)Cag>Gag		runt-related transcription factor 2							6	10	9					6																	45390482		1279	2789	4068	SO:0001583	missense	860				negative regulation of transcription, DNA-dependent|osteoblast differentiation|positive regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr6:45390482C>G	AF001450	CCDS43467.1, CCDS43468.1, CCDS43467.2, CCDS43468.2	6p21	2010-08-20			ENSG00000124813	ENSG00000124813			10472	protein-coding gene	gene with protein product		600211		CCD, CBFA1, CCD1		7835892	Standard	NM_001024630		Approved	AML3, PEBP2A1, PEBP2aA1	uc011dvx.2	Q13950	OTTHUMG00000014774	ENST00000371438.1:c.211C>G	6.37:g.45390482C>G	ENSP00000360493:p.Gln71Glu					RUNX2_ENST00000576263.1_Missense_Mutation_p.Q71E|RUNX2_ENST00000352853.5_Missense_Mutation_p.Q139E|RUNX2_ENST00000359524.5_Missense_Mutation_p.Q57E|RUNX2_ENST00000371436.6_Missense_Mutation_p.Q71E|RUNX2_ENST00000541979.1_Missense_Mutation_p.Q139E|RUNX2_ENST00000371432.3_Missense_Mutation_p.Q57E|RUNX2_ENST00000465038.2_Missense_Mutation_p.Q71E	p.Q71E	NM_001024630.3	NP_001019801.3	Q13950	RUNX2_HUMAN			2	569	+			71			Poly-Gln.		O14614|O14615|O95181	Missense_Mutation	SNP	ENST00000371438.1	37	c.211C>G	CCDS43467.2	.	.	.	.	.	.	.	.	.	.	C	12.60	1.985548	0.35036	.	.	ENSG00000124813	ENST00000465038;ENST00000352853;ENST00000541979;ENST00000371438;ENST00000371436;ENST00000359524;ENST00000371432	T;T;T;T;T;T;T	0.61742	0.08;0.08;0.08;0.08;0.08;0.08;0.08	3.45	3.45	0.39498	.	1.972660	0.03402	N	0.203449	T	0.19248	0.0462	N	0.14661	0.345	0.27094	N	0.962779	B;B;B	0.23806	0.033;0.055;0.091	B;B;B	0.20384	0.029;0.013;0.029	T	0.13818	-1.0495	10	0.02654	T	1	.	14.8379	0.70197	0.0:1.0:0.0:0.0	.	139;71;57	F6RGB9;Q13950;Q13950-2	.;RUNX2_HUMAN;.	E	71;139;139;71;71;57;57	ENSP00000420707:Q71E;ENSP00000319087:Q139E;ENSP00000446290:Q139E;ENSP00000360493:Q71E;ENSP00000360491:Q71E;ENSP00000352514:Q57E;ENSP00000360486:Q57E	ENSP00000319087:Q139E	Q	+	1	0	RUNX2	45498460	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	1.268000	0.33062	1.622000	0.50330	0.407000	0.27541	CAG		0.716	RUNX2-003	KNOWN	not_organism_supported|upstream_ATG|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040755.2	NM_004348		3	8	0	0	0	0.115264	0	3	8					G	45390482	C	G	45390482	3	3	219	1	0	0	0	0	1	0	0	0	13748	711	25	5	233	5	RUNX2	6	45390482	Missense_Mutation	SNP	C	TCGA-HC-7749-01A-11D-2114-08	14931342	45390482	125724585	27	10106											
DDX43	55510	broad.mit.edu	37	chr6	74111706	74111706	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgaaatggcaaaaaacaaaGtgggcaggtcagtgctgctt	14	9	12	6	0	1	1	1	1	0	0	1	1	1	1	0	3	3	4	0	3	5	2			TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chr6:74111706G>C	ENST00000370336.4	+	4	719	c.561G>C	c.(559-561)aaG>aaC	p.K187N	DDX43_ENST00000539829.1_Missense_Mutation_p.K187N	NM_018665.2	NP_061135.2	Q9NXZ2	DDX43_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 43	187					ATP catabolic process (GO:0006200)	intracellular (GO:0005622)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|RNA binding (GO:0003723)			NS(1)|breast(2)|central_nervous_system(1)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	24						AAAAAACAAAGTGGGCAGGTC	0.358																																						ENST00000370336.4																			0				NS(1)|breast(2)|central_nervous_system(1)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	24						c.(559-561)aaG>aaC		DEAD (Asp-Glu-Ala-Asp) box polypeptide 43							131	132	131					6																	74111706		2203	4300	6503	SO:0001583	missense	55510					intracellular	ATP binding|ATP-dependent RNA helicase activity|RNA binding	g.chr6:74111706G>C		CCDS4977.1	6q13	2014-01-21			ENSG00000080007	ENSG00000080007		"DEAD-boxes"	18677	protein-coding gene	gene with protein product	"cancer/testis antigen 13"	606286				10919659	Standard	NM_018665		Approved	HAGE, DKFZp434H2114, CT13	uc003pgw.3	Q9NXZ2	OTTHUMG00000015033	ENST00000370336.4:c.561G>C	6.37:g.74111706G>C	ENSP00000359361:p.Lys187Asn					DDX43_ENST00000539829.1_Missense_Mutation_p.K187N	p.K187N	NM_018665.2	NP_061135.2	Q9NXZ2	DDX43_HUMAN			4	719	+			187					B4E0C8|Q6NXR1	Missense_Mutation	SNP	ENST00000370336.4	37	c.561G>C	CCDS4977.1	.	.	.	.	.	.	.	.	.	.	G	16.96	3.265057	0.59431	.	.	ENSG00000080007	ENST00000370336;ENST00000539829	T;T	0.63744	2.25;-0.06	5.26	4.39	0.52855	.	0.000000	0.85682	D	0.000000	T	0.40694	0.1127	L	0.45352	1.415	0.43164	D	0.994957	P	0.45986	0.87	B	0.43194	0.411	T	0.37502	-0.9703	10	0.38643	T	0.18	.	10.1106	0.42561	0.0937:0.0:0.9063:0.0	.	187	Q9NXZ2	DDX43_HUMAN	N	187	ENSP00000359361:K187N;ENSP00000441636:K187N	ENSP00000359361:K187N	K	+	3	2	DDX43	74168427	1.000000	0.71417	1.000000	0.80357	0.852000	0.48524	1.705000	0.37867	1.357000	0.45904	-0.136000	0.14681	AAG		0.358	DDX43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041219.3	NM_018665		52	80	0	0	0	0.870114	0	52	80					C	74111706	G	C	74111706	3	2	219	1	0	0	0	0	1	0	0	0	4363	1020	36	5	575	5	DDX43	6	74111706	Missense_Mutation	SNP	G	TCGA-HC-7749-01A-11D-2114-08	28721224	74111706	97003361	28	10107											
ZNF292	23036	broad.mit.edu	37	chr6	87969690	87969690	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	acagtccttacagaccttatCgatgtgttcaccagggatgc	10	11	9	11	1	1	1	1	0	0	1	3	3	2	2	3	1	2	1	3	1	2	3			TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chr6:87969690C>T	ENST00000369577.3	+	8	6386	c.6343C>T	c.(6343-6345)Cga>Tga	p.R2115*	ZNF292_ENST00000339907.4_Nonsense_Mutation_p.R2110*	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN	zinc finger protein 292	2115						nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)	p.R2115*(1)|p.R1970*(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		CAGACCTTATCGATGTGTTCA	0.418																																						ENST00000369577.3																			2	Substitution - Nonsense(2)	p.R2115*(1)|p.R1970*(1)	large_intestine(2)	NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89						c.(6343-6345)Cga>Tga		zinc finger protein 292							87	89	89					6																	87969690		1907	4104	6011	SO:0001587	stop_gained	23036				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:87969690C>T	AB011102	CCDS47457.1	6q15	2008-10-23			ENSG00000188994	ENSG00000188994		"Zinc fingers, C2H2-type"	18410	protein-coding gene	gene with protein product						9628581	Standard	NM_015021		Approved	KIAA0530, ZFP292, bA393I2.3, Zn-15, Zn-16	uc003plm.4	O60281	OTTHUMG00000015164	ENST00000369577.3:c.6343C>T	6.37:g.87969690C>T	ENSP00000358590:p.Arg2115*					ZNF292_ENST00000339907.4_Nonsense_Mutation_p.R2110*	p.R2115*	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0199)	8	6386	+		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)	2115					Q5W0B2|Q7Z3L7|Q9H8G3|Q9H8J4	Nonsense_Mutation	SNP	ENST00000369577.3	37	c.6343C>T	CCDS47457.1	.	.	.	.	.	.	.	.	.	.	C	45	11.675554	0.99590	.	.	ENSG00000188994	ENST00000369577;ENST00000339907	.	.	.	5.77	3.79	0.43588	.	0.173238	0.52532	D	0.000073	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.8656	0.46853	0.1948:0.7315:0.0:0.0736	.	.	.	.	X	2115;2110	.	ENSP00000342847:R2110X	R	+	1	2	ZNF292	88026409	0.992000	0.36948	1.000000	0.80357	0.982000	0.71751	2.407000	0.44565	1.422000	0.47177	0.655000	0.94253	CGA		0.418	ZNF292-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000376192.2	NM_015021		27	62	0	0	0	0.760397	0	27	62					T	87969690	C	T	87969690	4	4	219	1	0	0	0	0	0	1	0	0	17823	876	31	2	6373	2	ZNF292	6	87969690	Nonsense_Mutation	SNP	C	TCGA-HC-7749-01A-11D-2114-08	13857984	87969690	83145377	29	10108											
CNR1	1268	broad.mit.edu	37	chr6	88854141	88854141	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cacgatgaacagaagcagtaCgctggtgaccccgatccaga	13	5	11	12	3	0	4	0	2	0	2	1	6	1	4	3	1	3	3	3	1	3	1	rs199892728		TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chr6:88854141C>T	ENST00000537554.1	-	2	4415	c.853G>A	c.(853-855)Gta>Ata	p.V285I	CNR1_ENST00000535130.1_Missense_Mutation_p.V285I|CNR1_ENST00000369501.2_Missense_Mutation_p.V285I|CNR1_ENST00000549890.1_Missense_Mutation_p.V285I|CNR1_ENST00000362094.5_3'UTR|CNR1_ENST00000549716.1_Missense_Mutation_p.V224I|CNR1_ENST00000369499.2_Missense_Mutation_p.V285I|CNR1_ENST00000468898.1_Missense_Mutation_p.V252I|CNR1_ENST00000428600.2_Missense_Mutation_p.V285I	NM_001160226.1|NM_001160258.1	NP_001153698.1|NP_001153730.1	P21554	CNR1_HUMAN	cannabinoid receptor 1 (brain)	285					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|aging (GO:0007568)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|glucose homeostasis (GO:0042593)|maternal process involved in female pregnancy (GO:0060135)|memory (GO:0007613)|negative regulation of action potential (GO:0045759)|negative regulation of blood pressure (GO:0045776)|negative regulation of dopamine secretion (GO:0033602)|negative regulation of fatty acid beta-oxidation (GO:0031999)|negative regulation of mast cell activation (GO:0033004)|negative regulation of nitric-oxide synthase activity (GO:0051001)|positive regulation of acute inflammatory response to antigenic stimulus (GO:0002866)|positive regulation of apoptotic process (GO:0043065)|positive regulation of blood pressure (GO:0045777)|positive regulation of fever generation (GO:0031622)|positive regulation of neuron projection development (GO:0010976)|regulation of feeding behavior (GO:0060259)|regulation of insulin secretion (GO:0050796)|regulation of penile erection (GO:0060405)|regulation of synaptic transmission, GABAergic (GO:0032228)|regulation of synaptic transmission, glutamatergic (GO:0051966)|response to cocaine (GO:0042220)|response to ethanol (GO:0045471)|response to lipopolysaccharide (GO:0032496)|response to morphine (GO:0043278)|response to nicotine (GO:0035094)|response to nutrient (GO:0007584)|sensory perception of pain (GO:0019233)|spermatogenesis (GO:0007283)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cannabinoid receptor activity (GO:0004949)|drug binding (GO:0008144)			breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|prostate(1)|skin(10)|urinary_tract(1)	37		all_cancers(76;8.24e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;4.11e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.00011)		BRCA - Breast invasive adenocarcinoma(108;0.15)	Dronabinol(DB00470)|Nabilone(DB00486)|Rimonabant(DB06155)	AGAAGCAGTACGCTGGTGACC	0.507													C|||	1	0.000199681	0	0	5008	,	,		23690	0.001		0	False		,,,				2504	0					ENST00000537554.1																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|prostate(1)|skin(10)|urinary_tract(1)	37						c.(853-855)Gta>Ata		cannabinoid receptor 1 (brain)	Marinol(DB00470)|Nabilone(DB00486)|Rimonabant(DB06155)						79	69	72					6																	88854141		2203	4300	6503	SO:0001583	missense	0				G-protein signaling, coupled to cAMP nucleotide second messenger	integral to plasma membrane	cannabinoid receptor activity|protein binding	g.chr6:88854141C>T	AF107262	CCDS5015.1, CCDS5016.1, CCDS5016.2	6q14-q15	2012-08-08			ENSG00000118432	ENSG00000118432		"GPCR / Class A : Cannabinoid receptors"	2159	protein-coding gene	gene with protein product		114610		CNR			Standard	NM_016083		Approved	CB1K5, CB-R, CB1, CANN6, CB1A	uc003pmq.4	P21554	OTTHUMG00000015184	ENST00000537554.1:c.853G>A	6.37:g.88854141C>T	ENSP00000441046:p.Val285Ile					CNR1_ENST00000369501.2_Missense_Mutation_p.V285I|CNR1_ENST00000535130.1_Missense_Mutation_p.V285I|CNR1_ENST00000549890.1_Missense_Mutation_p.V285I|CNR1_ENST00000362094.5_3'UTR|CNR1_ENST00000549716.1_Missense_Mutation_p.V224I|CNR1_ENST00000468898.1_Missense_Mutation_p.V252I|CNR1_ENST00000369499.2_Missense_Mutation_p.V285I|CNR1_ENST00000428600.2_Missense_Mutation_p.V285I	p.V285I	NM_001160226.1|NM_001160258.1	NP_001153698.1|NP_001153730.1	P21554	CNR1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.15)	2	4415	-		all_cancers(76;8.24e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;4.11e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.00011)	285					B2R9T4|E1P512|Q13949|Q495Z0|Q4PLI4|Q4VBM6|Q5JVL5|Q5UB37|Q9UNN0	Missense_Mutation	SNP	ENST00000537554.1	37	c.853G>A	CCDS5015.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	7.036	0.561557	0.13498	.	.	ENSG00000118432	ENST00000369501;ENST00000535130;ENST00000537554;ENST00000369499;ENST00000549890;ENST00000468898;ENST00000428600;ENST00000549716	T;T;T;T;T;T;T;T	0.72394	-0.65;-0.65;-0.65;-0.65;-0.65;-0.65;-0.65;-0.65	6.05	2.9	0.33743	GPCR, rhodopsin-like superfamily (1);	0.056852	0.64402	D	0.000001	T	0.32071	0.0817	N	0.11560	0.145	0.51233	D	0.999918	B;B	0.11235	0.003;0.004	B;B	0.15484	0.006;0.013	T	0.16100	-1.0414	10	0.39692	T	0.17	.	10.3084	0.43693	0.0:0.7115:0.1084:0.1801	.	252;285	P21554-3;P21554	.;CNR1_HUMAN	I	285;285;285;285;285;252;285;224	ENSP00000358513:V285I;ENSP00000442689:V285I;ENSP00000441046:V285I;ENSP00000358511:V285I;ENSP00000446819:V285I;ENSP00000420188:V252I;ENSP00000412192:V285I;ENSP00000449549:V224I	ENSP00000358511:V285I	V	-	1	0	CNR1	88910860	0.934000	0.31675	0.973000	0.42090	0.495000	0.33615	1.608000	0.36847	0.895000	0.36342	-0.119000	0.15052	GTA		0.507	CNR1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354204.2			11	49	0	0	0	0.411799	0	11	49					T	88854141	C	T	88854141	3	4	219	1	0	0	0	0	1	0	0	0	3631	536	19	1	569	1	CNR1	6	88854141	Missense_Mutation	SNP	C	TCGA-HC-7749-01A-11D-2114-08	884451	88854141	82260926	30	10109											
C6orf97	80129	broad.mit.edu	37	chr6	151917594	151917594	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtggttgagagggacaacgCgcatcttaccatcaggaact	11	8	13	9	2	2	1	1	1	1	1	2	4	2	3	1	4	3	2	1	4	3	2	rs201487502	byFrequency	TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chr6:151917594C>T	ENST00000239374.7	+	9	1691	c.1592C>T	c.(1591-1593)gCg>gTg	p.A531V	CCDC170_ENST00000367290.5_Missense_Mutation_p.A531V	NM_025059.3	NP_079335.2	Q8IYT3	CC170_HUMAN	coiled-coil domain containing 170	531																	AGGGACAACGCGCATCTTACC	0.552													C|||	4	0.000798722	0	0	5008	,	,		17323	0		0.001	False		,,,				2504	0.0031					ENST00000367290.5																			0											c.(1591-1593)gCg>gTg		coiled-coil domain containing 170							86	95	92					6																	151917594		2160	4261	6421	SO:0001583	missense	80129							g.chr6:151917594C>T	AK026958	CCDS43515.1	6q25.1	2012-03-26	2012-03-26	2012-03-26	ENSG00000120262	ENSG00000120262			21177	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 97"	C6orf97			Standard	NM_025059		Approved	FLJ23305, bA282P11.1	uc003qol.3	Q8IYT3	OTTHUMG00000015839	ENST00000239374.7:c.1592C>T	6.37:g.151917594C>T	ENSP00000239374:p.Ala531Val					CCDC170_ENST00000239374.7_Missense_Mutation_p.A531V	p.A531V			Q8IYT3	CF097_HUMAN			9	1681	+			531					Q5VXB7|Q6P9E4|Q96KA9|Q9H5M3	Missense_Mutation	SNP	ENST00000239374.7	37	c.1592C>T	CCDS43515.1	.	.	.	.	.	.	.	.	.	.	C	13.31	2.199521	0.38806	.	.	ENSG00000120262	ENST00000239374;ENST00000367290	T;T	0.10192	2.9;2.9	5.48	3.69	0.42338	.	0.194904	0.43416	D	0.000579	T	0.18718	0.0449	M	0.79805	2.47	0.46725	D	0.999171	D	0.71674	0.998	P	0.61592	0.891	T	0.01096	-1.1453	10	0.36615	T	0.2	-2.8907	14.1374	0.65295	0.0:0.8264:0.1098:0.0638	.	531	Q8IYT3	CF097_HUMAN	V	531	ENSP00000239374:A531V;ENSP00000356259:A531V	ENSP00000239374:A531V	A	+	2	0	C6orf97	151959287	0.999000	0.42202	0.009000	0.14445	0.000000	0.00434	3.495000	0.53280	0.294000	0.22547	-0.797000	0.03246	GCG		0.552	CCDC170-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000042727.2	NM_025059		35	64	0	0	0	0.834066	0	35	64					T	151917594	C	T	151917594	3	4	219	1	0	0	0	0	1	0	0	0	2374	768	27	1	1626	1	C6orf97	6	151917594	Missense_Mutation	SNP	C	TCGA-HC-7749-01A-11D-2114-08	63063453	151917594	19197473	31	10110											
ARID1B	57492	broad.mit.edu	37	chr6	157454170	157454170	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tttcccacttaggttttatgGcaggcacacaaagaaaccct	12	11	7	11	0	0	1	0	0	0	1	1	1	1	1	2	3	1	3	2	3	4	4			TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chr6:157454170G>A	ENST00000350026.5	+	7	2342	c.2341G>A	c.(2341-2343)Gca>Aca	p.A781T	ARID1B_ENST00000275248.4_Missense_Mutation_p.A723T|ARID1B_ENST00000367148.1_Missense_Mutation_p.A781T|ARID1B_ENST00000346085.5_Missense_Mutation_p.A794T	NM_017519.2	NP_059989.2	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	781					chromatin-mediated maintenance of transcription (GO:0048096)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)			NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		AGGTTTTATGGCAGGCACACA	0.468																																						ENST00000346085.5																			0				NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81						c.(2380-2382)Gca>Aca		AT rich interactive domain 1B (SWI1-like)							76	73	74					6																	157454170		2203	4300	6503	SO:0001583	missense	57492				chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity	g.chr6:157454170G>A	AF521671	CCDS5251.1, CCDS5251.2, CCDS55072.1	6q25.3	2014-09-17			ENSG00000049618	ENSG00000049618		"-"	18040	protein-coding gene	gene with protein product		614556					Standard	NM_017519		Approved	KIAA1235, ELD/OSA1, p250R, BAF250b, DAN15, 6A3-5	uc003qqo.3	Q8NFD5	OTTHUMG00000015890	ENST00000350026.5:c.2341G>A	6.37:g.157454170G>A	ENSP00000055163:p.Ala781Thr					ARID1B_ENST00000367148.1_Missense_Mutation_p.A781T|ARID1B_ENST00000275248.4_Missense_Mutation_p.A723T|ARID1B_ENST00000350026.5_Missense_Mutation_p.A781T	p.A794T	NM_020732.3	NP_065783.3	Q8NFD5	ARI1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)	8	2381	+		Breast(66;0.000162)|Ovarian(120;0.0265)	781					Q5JRD1|Q5VYC4|Q8IZY8|Q8TEV0|Q8TF02|Q99491|Q9ULI5	Missense_Mutation	SNP	ENST00000350026.5	37	c.2380G>A	CCDS5251.2	.	.	.	.	.	.	.	.	.	.	G	13.74	2.328331	0.41197	.	.	ENSG00000049618	ENST00000346085;ENST00000350026;ENST00000367148;ENST00000275248;ENST00000535255;ENST00000414678;ENST00000319584	T;T;T;T;T;T	0.20069	4.84;4.84;4.82;4.82;2.1;2.31	6.06	2.88	0.33553	.	0.293998	0.33572	N	0.004763	T	0.03263	0.0095	N	0.08118	0	0.24134	N	0.99575	B;B;B;B	0.21147	0.052;0.001;0.002;0.002	B;B;B;B	0.16722	0.016;0.002;0.005;0.005	T	0.37430	-0.9706	10	0.42905	T	0.14	.	8.0182	0.30393	0.1985:0.0:0.6832:0.1183	.	165;781;794;723	F5H333;Q8NFD5;Q8NFD5-2;G3XAA0	.;ARI1B_HUMAN;.;.	T	794;781;781;723;165;250;203	ENSP00000344546:A794T;ENSP00000055163:A781T;ENSP00000356116:A781T;ENSP00000275248:A723T;ENSP00000412835:A250T;ENSP00000313006:A203T	ENSP00000275248:A723T	A	+	1	0	ARID1B	157495862	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	0.996000	0.29719	0.867000	0.35654	0.655000	0.94253	GCA		0.468	ARID1B-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000372723.1	NM_020732		15	46	0	0	0	0.592651	0	15	46					A	157454170	G	A	157454170	3	1	219	1	0	0	0	0	1	0	0	0	914	1203	42	3	2410	3	ARID1B	6	157454170	Missense_Mutation	SNP	G	TCGA-HC-7749-01A-11D-2114-08	5536576	157454170	13660897	32	10111											
KCTD7	154881	broad.mit.edu	37	chr7	66103989	66103989	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcaactccctgcgatttgagCggagtgagagtgacgggcag	9	8	15	9	3	1	3	1	3	0	1	2	6	2	4	1	2	3	1	1	2	1	1			TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chr7:66103989C>T	ENST00000275532.3	+	4	824	c.640C>T	c.(640-642)Cgg>Tgg	p.R214W	KCTD7_ENST00000443322.1_Missense_Mutation_p.R214W	NM_001167961.2|NM_153033.4	NP_001161433.1|NP_694578.1	Q96MP8	KCTD7_HUMAN	potassium channel tetramerization domain containing 7	214					cell death (GO:0008219)|protein homooligomerization (GO:0051260)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|urinary_tract(1)	16						GCGATTTGAGCGGAGTGAGAG	0.567																																						ENST00000275532.3																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|urinary_tract(1)	16						c.(640-642)Cgg>Tgg		potassium channel tetramerization domain containing 7							131	112	119					7																	66103989		2203	4300	6503	SO:0001583	missense	154881					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr7:66103989C>T	AK056631	CCDS5534.1, CCDS55117.1	7q11.21	2014-09-17	2013-06-20		ENSG00000243335	ENSG00000243335			21957	protein-coding gene	gene with protein product		611725	"potassium channel tetramerisation domain containing 7"			12477932	Standard	NM_001167961		Approved	FLJ32069, EPM3, CLN14	uc003tve.3	Q96MP8	OTTHUMG00000129543	ENST00000275532.3:c.640C>T	7.37:g.66103989C>T	ENSP00000275532:p.Arg214Trp					KCTD7_ENST00000443322.1_Missense_Mutation_p.R214W	p.R214W	NM_001167961.2|NM_153033.4	NP_001161433.1|NP_694578.1	Q96MP8	KCTD7_HUMAN			4	824	+			214					A4D2M4|Q8IVR0	Missense_Mutation	SNP	ENST00000275532.3	37	c.640C>T	CCDS5534.1	.	.	.	.	.	.	.	.	.	.	C	18.99	3.739238	0.69304	.	.	ENSG00000243335	ENST00000275532;ENST00000443322	T;T	0.78707	-1.2;-1.2	5.56	4.66	0.58398	.	.	.	.	.	T	0.81479	0.4831	L	0.36672	1.1	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	T	0.79885	-0.1614	9	0.35671	T	0.21	.	12.901	0.58125	0.409:0.591:0.0:0.0	.	214	Q96MP8	KCTD7_HUMAN	W	214	ENSP00000275532:R214W;ENSP00000411624:R214W	ENSP00000275532:R214W	R	+	1	2	KCTD7	65741424	1.000000	0.71417	0.998000	0.56505	0.929000	0.56500	2.641000	0.46587	1.294000	0.44707	0.591000	0.81541	CGG		0.567	KCTD7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251733.2	NM_153033		4	126	0	0	0	0.184627	0	4	126					T	66103989	C	T	66103989	3	4	219	1	0	0	0	0	1	0	0	0	8114	759	27	1	654	1	KCTD7	7	66103989	Missense_Mutation	SNP	C	TCGA-HC-7749-01A-11D-2114-08		66103989	93034674	33	10112											
CSMD1	64478	broad.mit.edu	37	chr8	2806884	2806884	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcaccttgaaaagtaaatcCtcctctttcaagtccagatg	12	12	6	11	0	3	2	2	1	1	1	6	2	6	2	4	0	0	1	4	0	5	3			TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chr8:2806884C>A	ENST00000520002.1	-	69	10897	c.10342G>T	c.(10342-10344)Gga>Tga	p.G3448*	CSMD1_ENST00000537824.1_Nonsense_Mutation_p.G3447*|CSMD1_ENST00000602723.1_Nonsense_Mutation_p.G3271*|CSMD1_ENST00000400186.3_Nonsense_Mutation_p.G3271*|CSMD1_ENST00000542608.1_Nonsense_Mutation_p.G3270*|CSMD1_ENST00000602557.1_Nonsense_Mutation_p.G3448*			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	3448						integral component of membrane (GO:0016021)				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		AAAGTAAATCCTCCTCTTTCA	0.318																																						ENST00000520002.1																			0				breast(20)|large_intestine(5)	25						c.(10342-10344)Gga>Tga		CUB and Sushi multiple domains 1							93	84	86					8																	2806884		1806	4070	5876	SO:0001587	stop_gained	64478					integral to membrane		g.chr8:2806884C>A			8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	14026	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 24"	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.10342G>T	8.37:g.2806884C>A	ENSP00000430733:p.Gly3448*					CSMD1_ENST00000542608.1_Nonsense_Mutation_p.G3270*|CSMD1_ENST00000537824.1_Nonsense_Mutation_p.G3447*|CSMD1_ENST00000602723.1_Nonsense_Mutation_p.G3271*|CSMD1_ENST00000400186.3_Nonsense_Mutation_p.G3271*|CSMD1_ENST00000602557.1_Nonsense_Mutation_p.G3448*	p.G3448*			Q96PZ7	CSMD1_HUMAN		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)	69	10897	-		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)	3448					Q0H0J5|Q96QU9|Q96RM4	Nonsense_Mutation	SNP	ENST00000520002.1	37	c.10342G>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	50|50	17.101370|17.101370	0.99879|0.99879	.|.	.|.	ENSG00000183117|ENSG00000183117	ENST00000400186;ENST00000520002;ENST00000318252;ENST00000537824;ENST00000542608|ENST00000335551	.|.	.|.	.|.	5.6|5.6	5.6|5.6	0.85130|0.85130	.|.	0.222920|.	0.38326|.	N|.	0.001725|.	.|T	.|0.70675	.|0.3251	.|.	.|.	.|.	0.46981|0.46981	D|D	0.999278|0.999278	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.68187	.|-0.5475	.|4	0.62326|.	D|.	0.03|.	.|.	14.1878|14.1878	0.65617|0.65617	0.0:0.9283:0.0:0.0717|0.0:0.9283:0.0:0.0717	.|.	.|.	.|.	.|.	X|M	3271;3448;3309;3447;3270|2849	.|.	ENSP00000320445:G3309X|.	G|R	-|-	1|2	0|0	CSMD1|CSMD1	2794291|2794291	0.019000|0.019000	0.18553|0.18553	0.963000|0.963000	0.40424|0.40424	0.054000|0.054000	0.15201|0.15201	1.637000|1.637000	0.37155|0.37155	2.783000|2.783000	0.95769|0.95769	0.637000|0.637000	0.83480|0.83480	GGA|AGG		0.318	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000374500.2	NM_033225		14	32	1	0	0.0202918	0.457914	0.0209535	14	32					A	2806884	C	A	2806884	4	1	219	1	0	0	0	0	0	1	0	0	3944	690	24	5	367	5	CSMD1	8	2806884	Nonsense_Mutation	SNP	C	TCGA-HC-7749-01A-11D-2114-08		2806884	143557138	34	10113											
IMPA1	3612	broad.mit.edu	37	chr8	82591382	82591382	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tatgtacaaagttagttgttCcatcaatagggtcaatgatc	13	14	8	6	0	2	1	2	1	0	0	4	1	3	1	1	1	1	4	1	1	7	6			TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chr8:82591382C>T	ENST00000256108.5	-	4	746	c.281G>A	c.(280-282)gGa>gAa	p.G94E	IMPA1_ENST00000523710.1_5'UTR|IMPA1_ENST00000449740.2_Missense_Mutation_p.G153E|IMPA1_ENST00000311489.4_Missense_Mutation_p.G94E	NM_005536.3	NP_005527.1	P29218	IMPA1_HUMAN	inositol(myo)-1(or 4)-monophosphatase 1	94	Substrate binding. {ECO:0000269|PubMed:8068620, ECO:0000303|PubMed:8068621}.				inositol biosynthetic process (GO:0006021)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	identical protein binding (GO:0042802)|inositol monophosphate 1-phosphatase activity (GO:0008934)|inositol monophosphate 3-phosphatase activity (GO:0052832)|inositol monophosphate 4-phosphatase activity (GO:0052833)|inositol monophosphate phosphatase activity (GO:0052834)|lithium ion binding (GO:0031403)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|protein homodimerization activity (GO:0042803)			NS(1)|cervix(1)|large_intestine(4)|lung(7)|prostate(2)|skin(2)|stomach(1)	18					Lithium(DB01356)	GTTAGTTGTTCCATCAATAGG	0.353																																						ENST00000256108.5																			0				NS(1)|cervix(1)|large_intestine(4)|lung(7)|prostate(2)|skin(2)|stomach(1)	18						c.(280-282)gGa>gAa		inositol(myo)-1(or 4)-monophosphatase 1	Lithium(DB01356)						119	119	119					8																	82591382		2203	4300	6503	SO:0001583	missense	3612				inositol phosphate dephosphorylation|phosphatidylinositol biosynthetic process|signal transduction	cytoplasm	inositol-1(or 4)-monophosphatase activity|metal ion binding|protein homodimerization activity	g.chr8:82591382C>T		CCDS6231.1, CCDS47883.1, CCDS47884.1	8q21.1-q21.3	2008-01-28			ENSG00000133731	ENSG00000133731	3.1.3.25		6050	protein-coding gene	gene with protein product		602064		IMPA		1377913	Standard	NM_005536		Approved		uc011lfq.1	P29218	OTTHUMG00000164682	ENST00000256108.5:c.281G>A	8.37:g.82591382C>T	ENSP00000256108:p.Gly94Glu					IMPA1_ENST00000449740.2_Missense_Mutation_p.G153E|IMPA1_ENST00000311489.4_Missense_Mutation_p.G94E|IMPA1_ENST00000523710.1_5'UTR	p.G94E	NM_005536.3	NP_005527.1	P29218	IMPA1_HUMAN			4	746	-			94			Substrate binding.		B2R733|B4DLN3|B7Z6Q4|J3KQT7|Q9UK71	Missense_Mutation	SNP	ENST00000256108.5	37	c.281G>A	CCDS6231.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	26.9|26.9	4.785967|4.785967	0.90282|0.90282	.|.	.|.	ENSG00000133731|ENSG00000133731	ENST00000256108;ENST00000311489;ENST00000449740;ENST00000519964;ENST00000522997;ENST00000518202|ENST00000523942	D;D;D;D;D;D|.	0.87809|.	-2.15;-2.3;-2.15;-2.3;-2.3;-2.3|.	5.06|5.06	5.06|5.06	0.68205|0.68205	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|.	0.92384|.	0.7583|.	H|H	0.99906|0.99906	4.925|4.925	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	1.0;1.0;1.0|.	D;D;D|.	0.97110|.	1.0;1.0;1.0|.	D|.	0.96355|.	0.9261|.	10|.	0.87932|.	D|.	0|.	-0.1495|-0.1495	18.0211|18.0211	0.89254|0.89254	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	94;153;94|.	B4DLN3;B7Z6Q4;P29218|.	.;.;IMPA1_HUMAN|.	E|X	94;94;153;86;153;94|118	ENSP00000256108:G94E;ENSP00000311803:G94E;ENSP00000408526:G153E;ENSP00000429322:G86E;ENSP00000430081:G153E;ENSP00000429516:G94E|.	ENSP00000256108:G94E|.	G|W	-|-	2|3	0|0	IMPA1|IMPA1	82753937|82753937	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.985000|0.985000	0.73830|0.73830	6.968000|6.968000	0.76086|0.76086	2.325000|2.325000	0.78763|0.78763	0.549000|0.549000	0.68633|0.68633	GGA|TGG		0.353	IMPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379723.1			22	55	0	0	0	0.639603	0	22	55					T	82591382	C	T	82591382	3	4	219	1	0	0	0	0	1	0	0	0	7722	855	30	3	576	3	IMPA1	8	82591382	Missense_Mutation	SNP	C	TCGA-HC-7749-01A-11D-2114-08	79784498	82591382	63772640	35	10114											
CENPP	401541	broad.mit.edu	37	chr9	95375385	95375385	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	actgcttggaatcgaagctgCtctggaaagcctgataaaat	13	10	10	8	1	1	1	0	1	1	0	2	4	1	3	1	2	4	3	1	2	5	2			TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chr9:95375385C>T	ENST00000375587.3	+	8	1336	c.821C>T	c.(820-822)gCt>gTt	p.A274V	IPPK_ENST00000486841.1_5'Flank|CENPP_ENST00000375579.3_Missense_Mutation_p.A101V|CENPP_ENST00000375576.1_Missense_Mutation_p.A88V	NM_001012267.1	NP_001012267.1	Q6IPU0	CENPP_HUMAN	centromere protein P	274					CENP-A containing nucleosome assembly (GO:0034080)|mitotic cell cycle (GO:0000278)|nucleosome assembly (GO:0006334)	chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|skin(1)	16						ATCGAAGCTGCTCTGGAAAGC	0.473																																						ENST00000375587.3																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|skin(1)	16						c.(820-822)gCt>gTt		centromere protein P							121	120	121					9																	95375385		2203	4300	6503	SO:0001583	missense	401541				CenH3-containing nucleosome assembly at centromere|mitotic prometaphase	chromosome, centromeric region|cytosol|nucleoplasm		g.chr9:95375385C>T	AK091247	CCDS35063.1, CCDS69618.1	9q22.31	2013-11-05			ENSG00000188312	ENSG00000188312			32933	protein-coding gene	gene with protein product		611505				16622419, 16622420	Standard	NM_001286969		Approved	RP11-19J3.3, CENP-P	uc004arz.3	Q6IPU0	OTTHUMG00000020228	ENST00000375587.3:c.821C>T	9.37:g.95375385C>T	ENSP00000364737:p.Ala274Val					CENPP_ENST00000375576.1_Missense_Mutation_p.A88V|CENPP_ENST00000375579.3_Missense_Mutation_p.A101V	p.A274V	NM_001012267.1	NP_001012267.1	Q6IPU0	CENPP_HUMAN			8	1336	+			274					B3KRA5|B3KS17|Q5T9F8|Q5T9F9	Missense_Mutation	SNP	ENST00000375587.3	37	c.821C>T	CCDS35063.1	.	.	.	.	.	.	.	.	.	.	C	15.62	2.887578	0.52014	.	.	ENSG00000188312	ENST00000375587;ENST00000402724;ENST00000375579;ENST00000375576	.	.	.	5.13	5.13	0.70059	.	0.474204	0.20246	N	0.096181	T	0.61751	0.2372	L	0.43923	1.385	0.34390	D	0.694036	P;P	0.41420	0.749;0.749	P;P	0.48368	0.575;0.575	T	0.73329	-0.4017	9	0.72032	D	0.01	-3.2087	17.151	0.86778	0.0:1.0:0.0:0.0	.	101;274	B3KRA5;Q6IPU0	.;CENPP_HUMAN	V	274;233;101;88	.	ENSP00000364726:A88V	A	+	2	0	CENPP	94415206	0.172000	0.23043	0.673000	0.29887	0.141000	0.21300	5.253000	0.65452	2.555000	0.86185	0.462000	0.41574	GCT		0.473	CENPP-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053098.1	NM_001012267		46	102	0	0	0	0.870114	0	46	102					T	95375385	C	T	95375385	3	4	219	1	0	0	0	0	1	0	0	0	3240	797	28	3	851	3	CENPP	9	95375385	Missense_Mutation	SNP	C	TCGA-HC-7749-01A-11D-2114-08		95375385	45838046	36	10115											
XPA	7507	broad.mit.edu	37	chr9	100447235	100447235	+	Nonsense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttatcaaatttcttctgttTcattttttctcggttttcct	5	25	3	8	1	5	0	2	0	3	0	7	0	6	0	1	1	0	2	1	1	2	10			TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chr9:100447235T>A	ENST00000375128.4	-	5	707	c.643A>T	c.(643-645)Aaa>Taa	p.K215*		NM_000380.3	NP_000371.1	P23025	XPA_HUMAN	xeroderma pigmentosum, complementation group A	215					DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|multicellular organism growth (GO:0035264)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|response to oxidative stress (GO:0006979)|response to toxic substance (GO:0009636)|response to UV (GO:0009411)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intercellular bridge (GO:0045171)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	damaged DNA binding (GO:0003684)|metal ion binding (GO:0046872)|protein domain specific binding (GO:0019904)|protein homodimerization activity (GO:0042803)			breast(1)|endometrium(4)|large_intestine(1)|lung(4)|prostate(1)	11		Acute lymphoblastic leukemia(62;0.158)				TTCTTCTGTTTCATTTTTTCT	0.353			"Mis, N, F, S"			"skin basal cell, skin squamous cell, melanoma"		Nucleotide excision repair (NER)	Xeroderma Pigmentosum																													ENST00000375128.4			yes	Rec		Xeroderma pigmentosum (A)	9	9q22.3	7507	"Mis, N, F, S"	"xeroderma pigmentosum, complementation group A"			E		"skin basal cell, skin squamous cell, melanoma"			0				breast(1)|endometrium(4)|large_intestine(1)|lung(4)|prostate(1)	11						c.(643-645)Aaa>Taa	Nucleotide excision repair (NER)	xeroderma pigmentosum, complementation group A							237	220	226					9																	100447235		2203	4299	6502	SO:0001587	stop_gained	7507	Xeroderma Pigmentosum	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV	nucleotide-excision repair, DNA damage removal	nucleoplasm	damaged DNA binding|metal ion binding|nucleotide binding|protein domain specific binding|protein homodimerization activity	g.chr9:100447235T>A	D14533	CCDS6729.1	9q22.3	2014-09-17			ENSG00000136936	ENSG00000136936			12814	protein-coding gene	gene with protein product		611153					Standard	NM_000380		Approved	XPAC, XP1	uc004axr.4	P23025	OTTHUMG00000020330	ENST00000375128.4:c.643A>T	9.37:g.100447235T>A	ENSP00000364270:p.Lys215*						p.K215*	NM_000380.3	NP_000371.1	P23025	XPA_HUMAN			5	707	-		Acute lymphoblastic leukemia(62;0.158)	215					Q5T1U9|Q6LCW7|Q6LD02	Nonsense_Mutation	SNP	ENST00000375128.4	37	c.643A>T	CCDS6729.1	.	.	.	.	.	.	.	.	.	.	T	20.5	3.994788	0.74703	.	.	ENSG00000136936	ENST00000375128	.	.	.	4.98	4.98	0.66077	.	0.144593	0.64402	D	0.000012	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.3523	0.66711	0.0:0.0:0.0:1.0	.	.	.	.	X	215	.	ENSP00000364270:K215X	K	-	1	0	XPA	99487056	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.994000	0.76251	2.180000	0.69256	0.383000	0.25322	AAA		0.353	XPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053332.1	NM_000380		5	41	0	0	0	0.217242	0	5	41					A	100447235	T	A	100447235	4	1	219	1	0	0	0	0	0	1	0	0	17437	1792	62	5	186	5	XPA	9	100447235	Nonsense_Mutation	SNP	T	TCGA-HC-7749-01A-11D-2114-08	5071850	100447235	40766196	37	10116											
C9orf16	79095	broad.mit.edu	37	chr9	130925872	130925872	+	Frame_Shift_Del	DEL	C	C	-																															ccagcagcagctcggggaggCccccagtgatgccagcccct																										TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chr9:130925872delC	ENST00000372994.1	+	2	378	c.230delC	c.(229-231)gccfs	p.A77fs	C9orf16_ENST00000492588.1_3'UTR	NM_024112.3	NP_077017.1	Q9BUW7	CI016_HUMAN	chromosome 9 open reading frame 16	77										ovary(1)	1		Myeloproliferative disorder(762;0.0511)		GBM - Glioblastoma multiforme(294;0.0294)		CTCGGGGAGGCCCCCAGTGAT	0.677																																						ENST00000372994.1																			0				ovary(1)	1						c.(229-231)gcfs		chromosome 9 open reading frame 16							13	14	14					9																	130925872		2199	4289	6488	SO:0001589	frameshift_variant	79095							g.chr9:130925872delC	AK022885	CCDS6893.1	9q34.1	2012-03-06			ENSG00000171159	ENSG00000171159			17823	protein-coding gene	gene with protein product						10369878	Standard	NM_024112		Approved	EST00098, FLJ12823, MGC4639	uc004btp.1	Q9BUW7	OTTHUMG00000020731	ENST00000372994.1:c.230delC	9.37:g.130925872delC	ENSP00000362085:p.Ala77fs					C9orf16_ENST00000492588.1_3'UTR	p.A77fs	NM_024112.3	NP_077017.1	Q9BUW7	CI016_HUMAN		GBM - Glioblastoma multiforme(294;0.0294)	2	378	+		Myeloproliferative disorder(762;0.0511)	77					Q5SYV8|Q9Y3F7	Frame_Shift_Del	DEL	ENST00000372994.1	37	c.230delC	CCDS6893.1																																																																																				0.677	C9orf16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054351.1	NM_024112		2	4						2	4	---	---	---	---	-	130925872	C	-	130925872	7	5	219	1	0	1	0	1	0	0	0	0	2466	739	26	0	236	0	C9orf16	9	130925872	Frame_Shift_Del	DEL	C	TCGA-HC-7749-01A-11D-2114-08	30478637	130925872	10287559	38	10117											
IPMK	253430	broad.mit.edu	37	chr10	59975932	59975932	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccaagcaccaagaacccaaTctcttccattaatgggtact	13	9	6	13	0	1	1	0	0	1	1	3	1	2	1	4	1	3	2	4	1	6	3			TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chr10:59975932T>C	ENST00000373935.3	-	4	842	c.520A>G	c.(520-522)Att>Gtt	p.I174V		NM_152230.4	NP_689416.1	Q8NFU5	IPMK_HUMAN	inositol polyphosphate multikinase	174					inositol phosphate biosynthetic process (GO:0032958)|inositol phosphate metabolic process (GO:0043647)|neural tube formation (GO:0001841)|small molecule metabolic process (GO:0044281)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|inositol tetrakisphosphate 3-kinase activity (GO:0000824)|inositol-1,4,5-trisphosphate 3-kinase activity (GO:0008440)|inositol-1,4,5-trisphosphate 6-kinase activity (GO:0000823)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)	22						AAGAACCCAATCTCTTCCATT	0.388																																						ENST00000373935.3																			0				NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)	22						c.(520-522)Att>Gtt		inositol polyphosphate multikinase							98	90	93					10																	59975932		2203	4300	6503	SO:0001583	missense	253430					nucleus	ATP binding|inositol trisphosphate 6-kinase activity	g.chr10:59975932T>C	AF432853	CCDS7250.1	10q21.1	2010-11-29		2004-07-22	ENSG00000151151	ENSG00000151151			20739	protein-coding gene	gene with protein product		609851				12223481, 12027805	Standard	NM_152230		Approved		uc001jkb.3	Q8NFU5	OTTHUMG00000018268	ENST00000373935.3:c.520A>G	10.37:g.59975932T>C	ENSP00000363046:p.Ile174Val						p.I174V	NM_152230.4	NP_689416.1	Q8NFU5	IPMK_HUMAN			4	842	-			174						Missense_Mutation	SNP	ENST00000373935.3	37	c.520A>G	CCDS7250.1	.	.	.	.	.	.	.	.	.	.	T	18.75	3.690782	0.68271	.	.	ENSG00000151151	ENST00000373935	T	0.18016	2.24	5.74	5.74	0.90152	.	0.000000	0.85682	D	0.000000	T	0.24509	0.0594	L	0.49126	1.545	0.49582	D	0.999804	P	0.37207	0.587	P	0.45406	0.479	T	0.01635	-1.1307	9	.	.	.	-8.2763	13.9987	0.64419	0.0:0.0:0.0:1.0	.	174	Q8NFU5	IPMK_HUMAN	V	174	ENSP00000363046:I174V	.	I	-	1	0	IPMK	59645938	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.931000	0.87625	2.182000	0.69389	0.533000	0.62120	ATT		0.388	IPMK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048142.1	NM_152230		39	85	0	0	0	0.870114	0	39	85					C	59975932	T	C	59975932	3	2	219	1	0	0	0	0	1	0	0	0	7792	1435	50	4	742	4	IPMK	10	59975932	Missense_Mutation	SNP	T	TCGA-HC-7749-01A-11D-2114-08		59975932	75558815	39	10118											
TLX1NB	100038246	broad.mit.edu	37	chr10	102849597	102849597	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	cccatggcctcttgggaaagGagagagtgctgacttgccca	9	8	13	11	0	1	2	0	1	1	1	1	5	1	4	3	3	2	1	3	3	1	2			TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chr10:102849597G>A	ENST00000445873.1	-	3	1342	c.66C>T	c.(64-66)ctC>ctT	p.L22L	TLX1NB_ENST00000425505.1_5'Flank	NM_001085398.1	NP_001078867.1	P0CAT3	TLXNB_HUMAN	TLX1 neighbor	22																	CTTGGGAAAGGAGAGAGTGCT	0.662																																						ENST00000445873.1																			0											c.(64-66)ctC>ctT		TLX1 neighbor							15	18	17					10																	102849597		1919	4112	6031	SO:0001819	synonymous_variant	100038246							g.chr10:102849597G>A	BC019674	CCDS60615.1	10q24	2014-04-01			ENSG00000236311	ENSG00000236311			37183	protein-coding gene	gene with protein product		612734				17303350	Standard	NM_001085398		Approved	TD1, TDI, APT-B7	uc001ksv.3	P0CAT3	OTTHUMG00000018925	ENST00000445873.1:c.66C>T	10.37:g.102849597G>A							p.L22L	NM_001085398.1	NP_001078867.1	P0CAT3	TLXNB_HUMAN			3	1342	-			22						Silent	SNP	ENST00000445873.1	37	c.66C>T																																																																																					0.662	TLX1NB-001	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000049925.2	NM_001085398		8	11	0	0	0	0.335167	0	8	11					A	102849597	G	A	102849597	2	1	219	1	0	0	0	0	0	0	0	1	15957	1161	41	3		3	TLX1NB	10	102849597	Silent	SNP	G	TCGA-HC-7749-01A-11D-2114-08	42873665	102849597	32685150	40	10119											
TSPAN4	7106	broad.mit.edu	37	chr11	864455	864455	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agttcttcctgctgctgctgCtggtgttcctgctggaggcc	2	14	13	12	0	1	0	0	0	1	0	3	1	3	1	3	3	5	7	3	3	0	3			TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chr11:864455C>G	ENST00000397404.1	+	5	533	c.274C>G	c.(274-276)Ctg>Gtg	p.L92V	TSPAN4_ENST00000346501.4_Missense_Mutation_p.L92V|TSPAN4_ENST00000397396.1_Missense_Mutation_p.L28V|TSPAN4_ENST00000397411.2_Missense_Mutation_p.L92V|TSPAN4_ENST00000397397.2_Missense_Mutation_p.L92V|TSPAN4_ENST00000397408.1_Missense_Mutation_p.L92V|TSPAN4_ENST00000525201.1_Missense_Mutation_p.L28V|TSPAN4_ENST00000409531.1_Missense_Mutation_p.L111V|TSPAN4_ENST00000409543.2_Missense_Mutation_p.L92V|TSPAN4_ENST00000397406.1_Missense_Mutation_p.L92V	NM_001025237.1	NP_001020408.1	O14817	TSN4_HUMAN	tetraspanin 4	92					protein complex assembly (GO:0006461)	focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	antigen binding (GO:0003823)|integrin binding (GO:0005178)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)	3		all_cancers(49;2.64e-08)|all_epithelial(84;4.17e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)|all_lung(207;0.24)		all cancers(45;4.32e-25)|Epithelial(43;3.29e-24)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GCTGCTGCTGCTGGTGTTCCT	0.672																																						ENST00000397404.1																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)	3						c.(274-276)Ctg>Gtg		tetraspanin 4							98	95	96					11																	864455		2203	4299	6502	SO:0001583	missense	0				protein complex assembly	integral to plasma membrane		g.chr11:864455C>G	AF022813	CCDS7721.1, CCDS41589.1	11p15.5	2013-02-14	2005-03-21	2005-03-21	ENSG00000214063	ENSG00000214063		"Tetraspanins"	11859	protein-coding gene	gene with protein product		602644	"transmembrane 4 superfamily member 7"	TM4SF7		9360996	Standard	XM_005253102		Approved	NAG-2, TSPAN-4, TETRASPAN	uc001lsf.1	O14817	OTTHUMG00000133305	ENST00000397404.1:c.274C>G	11.37:g.864455C>G	ENSP00000380553:p.Leu92Val					TSPAN4_ENST00000397396.1_Missense_Mutation_p.L28V|TSPAN4_ENST00000397406.1_Missense_Mutation_p.L92V|TSPAN4_ENST00000397408.1_Missense_Mutation_p.L92V|TSPAN4_ENST00000346501.4_Missense_Mutation_p.L92V|TSPAN4_ENST00000397411.2_Missense_Mutation_p.L92V|TSPAN4_ENST00000409543.2_Missense_Mutation_p.L92V|TSPAN4_ENST00000525201.1_Missense_Mutation_p.L28V|TSPAN4_ENST00000409531.1_Missense_Mutation_p.L111V|TSPAN4_ENST00000397397.2_Missense_Mutation_p.L92V	p.L92V	NM_001025237.1	NP_001020408.1	O14817	TSN4_HUMAN		all cancers(45;4.32e-25)|Epithelial(43;3.29e-24)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	5	533	+		all_cancers(49;2.64e-08)|all_epithelial(84;4.17e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)|all_lung(207;0.24)	92					Q6IAP6	Missense_Mutation	SNP	ENST00000397404.1	37	c.274C>G	CCDS7721.1	.	.	.	.	.	.	.	.	.	.	C	7.339	0.620549	0.14193	.	.	ENSG00000214063	ENST00000397397;ENST00000397411;ENST00000397396;ENST00000397408;ENST00000525334;ENST00000397406;ENST00000409543;ENST00000525201;ENST00000397404;ENST00000532375;ENST00000346501;ENST00000409531;ENST00000527644	T;T;T;T;T;T;T;T;T;T;T;T;T	0.80304	-1.36;-1.36;-1.36;-1.36;-1.36;-1.36;-1.36;-1.36;-1.36;-1.36;-1.36;-1.36;-1.36	3.04	1.98	0.26296	.	0.388801	0.23310	N	0.049564	T	0.54431	0.1858	N	0.04508	-0.205	0.32506	N	0.538191	B	0.12013	0.005	B	0.15870	0.014	T	0.53493	-0.8431	10	0.17369	T	0.5	.	6.829	0.23898	0.4405:0.5595:0.0:0.0	.	92	O14817	TSN4_HUMAN	V	92;92;28;92;28;92;92;28;92;28;92;111;92	ENSP00000380552:L92V;ENSP00000380558:L92V;ENSP00000380551:L28V;ENSP00000380555:L92V;ENSP00000433980:L28V;ENSP00000380554:L92V;ENSP00000386513:L92V;ENSP00000431943:L28V;ENSP00000380553:L92V;ENSP00000434818:L28V;ENSP00000324304:L92V;ENSP00000386899:L111V;ENSP00000436260:L92V	ENSP00000324304:L92V	L	+	1	2	TSPAN4	854455	0.162000	0.22906	1.000000	0.80357	0.819000	0.46315	0.131000	0.15870	1.557000	0.49525	0.313000	0.20887	CTG		0.672	TSPAN4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257102.2			4	144	0	0	0	0.307466	0	4	144					G	864455	C	G	864455	3	3	219	1	0	0	0	0	1	0	0	0	16646	796	28	5	284	5	TSPAN4	11	864455	Missense_Mutation	SNP	C	TCGA-HC-7749-01A-11D-2114-08		864455	134142061	41	10120											
LTBP3	4054	broad.mit.edu	37	chr11	65325326	65325328	+	In_Frame_Del	DEL	CAG	CAG	-																															tcgaccctgccgcccaggccCagcagcagcagcagcagcag																								rs577530923	byFrequency	TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chr11:65325326_65325328delCAG	ENST00000301873.5	-	1	371_373	c.103_105delCTG	c.(103-105)ctgdel	p.L35del	LTBP3_ENST00000322147.4_In_Frame_Del_p.L35del|LTBP3_ENST00000536982.1_5'Flank	NM_001130144.2	NP_001123616.1	Q9NS15	LTBP3_HUMAN	latent transforming growth factor beta binding protein 3	35	Gly-rich.			Missing (in Ref. 2; BAB15767). {ECO:0000305}.	bone morphogenesis (GO:0060349)|bone remodeling (GO:0046849)|extracellular matrix organization (GO:0030198)|lung saccule development (GO:0060430)|negative regulation of bone mineralization (GO:0030502)|negative regulation of chondrocyte differentiation (GO:0032331)|positive regulation of bone resorption (GO:0045780)|positive regulation of mesenchymal stem cell differentiation (GO:2000741)|positive regulation of mesenchymal stem cell proliferation (GO:1902462)|transforming growth factor beta activation (GO:0036363)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|transforming growth factor beta binding (GO:0050431)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|prostate(2)|upper_aerodigestive_tract(3)	23						cgcccaggcccagcagcagcagc	0.818																																						ENST00000301873.5																			0				breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|prostate(2)|upper_aerodigestive_tract(3)	23						c.(103-105)del		latent transforming growth factor beta binding protein 3			,,	2,10,52		1,0,0,5,0,26					,,	2.7	1			1	37,32,177		18,0,1,14,4,86	no	codingComplex,utr-5,codingComplex	LTBP3	NM_021070.4,NM_001164266.1,NM_001130144.2	,,	19,0,1,19,4,112	A1A1,A1A2,A1R,A2A2,A2R,RR		28.0488,18.75,26.129	,,	,,		39,42,229				SO:0001651	inframe_deletion	4054					extracellular region	calcium ion binding|growth factor binding	g.chr11:65325326_65325328delCAG	AF135960	CCDS8103.1, CCDS44647.1	11q12	2011-10-20			ENSG00000168056	ENSG00000168056		"Latent transforming growth factor, beta binding proteins"	6716	protein-coding gene	gene with protein product		602090		LTBP2		7719025	Standard	NM_001164266		Approved		uc001oej.3	Q9NS15	OTTHUMG00000166575	ENST00000301873.5:c.103_105delCTG	11.37:g.65325335_65325337delCAG	ENSP00000301873:p.Leu35del					LTBP3_ENST00000322147.4_In_Frame_Del_p.L35del	p.L35del	NM_001130144.2	NP_001123616.1	Q9NS15	LTBP3_HUMAN			1	371_373	-			35	Missing (in Ref. 2; BAB15767).		Gly-rich.		O15107|Q96HB9|Q9H7K2|Q9UFN4	In_Frame_Del	DEL	ENST00000301873.5	37	c.103_105delCTG	CCDS44647.1																																																																																				0.818	LTBP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390538.1	NM_021070		4	7						4	7	---	---	---	---	-	65325328	CAG	-	65325326	7	5	219	1	0	1	0	1	0	0	0	0	9075	581	21	0	3918	0	LTBP3	11	65325326	In_Frame_Del	DEL	CAG	TCGA-HC-7749-01A-11D-2114-08	64460871	65325326	69681190	42	10121											
MMP3	4314	broad.mit.edu	37	chr11	102710883	102710883	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccctcagagtgctgacagcAtcaaaggacaaagcaggatc	14	5	10	12	0	2	2	2	1	0	1	3	4	2	4	2	2	3	3	2	2	2	0	rs150024311		TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chr11:102710883A>G	ENST00000299855.5	-	6	1147	c.891T>C	c.(889-891)gaT>gaC	p.D297D		NM_002422.3	NP_002413.1	P08254	MMP3_HUMAN	matrix metallopeptidase 3 (stromelysin 1, progelatinase)	297					cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of hydrogen peroxide metabolic process (GO:0010727)|positive regulation of oxidative stress-induced cell death (GO:1903209)|proteolysis (GO:0006508)|regulation of cell migration (GO:0030334)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|endopeptidase activity (GO:0004175)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	22		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.0142)	Marimastat(DB00786)	TGCTGACAGCATCAAAGGACA	0.493																																						ENST00000299855.5																			0				endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	22						c.(889-891)gaT>gaC		matrix metallopeptidase 3 (stromelysin 1, progelatinase)	Marimastat(DB00786)|Simvastatin(DB00641)	A		0,4406		0,0,2203	75	80	78		891	-4	0.2	11	dbSNP_134	78	2,8596	2.2+/-6.3	0,2,4297	no	coding-synonymous	MMP3	NM_002422.3		0,2,6500	GG,GA,AA		0.0233,0.0,0.0154		297/478	102710883	2,13002	2203	4299	6502	SO:0001819	synonymous_variant	4314				collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding	g.chr11:102710883A>G	X05232	CCDS8323.1	11q22.3	2012-10-02	2005-08-08		ENSG00000149968	ENSG00000149968	3.4.24.17		7173	protein-coding gene	gene with protein product		185250	"matrix metalloproteinase 3 (stromelysin 1, progelatinase)"	STMY1, STMY			Standard	NM_002422		Approved		uc001phj.1	P08254	OTTHUMG00000048254	ENST00000299855.5:c.891T>C	11.37:g.102710883A>G							p.D297D	NM_002422.3	NP_002413.1	P08254	MMP3_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.0142)	6	1147	-		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	297			Hemopexin-like 1.		B2R8B8|Q3B7S0|Q6GRF8	Silent	SNP	ENST00000299855.5	37	c.891T>C	CCDS8323.1																																																																																				0.493	MMP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109758.2	NM_002422		4	134	0	0	0	0.217242	0	4	134					G	102710883	A	G	102710883	2	3	219	1	0	0	0	0	0	0	0	1	9666	214	8	4		4	MMP3	11	102710883	Silent	SNP	A	TCGA-HC-7749-01A-11D-2114-08	37385557	102710883	32295633	43	10122											
SIAE	54414	broad.mit.edu	37	chr11	124539286	124539286	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggtcactttcttcatgatggTttcctgaccttggcgcaggg	5	14	12	10	1	3	2	2	2	1	0	4	2	4	2	2	4	0	2	2	4	0	4			TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chr11:124539286T>G	ENST00000263593.3	-	2	371	c.199A>C	c.(199-201)Acc>Ccc	p.T67P	SIAE_ENST00000525730.1_5'Flank|SIAE_ENST00000545756.1_Missense_Mutation_p.T32P			Q9HAT2	SIAE_HUMAN	sialic acid acetylesterase	67					carbohydrate metabolic process (GO:0005975)|regulation of immune system process (GO:0002682)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	sialate O-acetylesterase activity (GO:0001681)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(2)	15	all_hematologic(175;0.215)	Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.63e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0243)		TTCATGATGGTTTCCTGACCT	0.522											OREG0021460	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000263593.3																			0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(2)	15						c.(199-201)Acc>Ccc		sialic acid acetylesterase							231	183	199					11																	124539286		2201	4299	6500	SO:0001583	missense	54414					extracellular region|lysosome	carboxylesterase activity|sialate O-acetylesterase activity	g.chr11:124539286T>G	AF300796	CCDS8449.1, CCDS55795.1	11q24	2005-12-15	2005-12-15	2005-12-15		ENSG00000110013			18187	protein-coding gene	gene with protein product	"sialic acid-specific acetylesterase II"	610079	"Ysg2 homolog (mouse)"	YSG2		10464298	Standard	NM_001199922		Approved	CSE-C, MGC87009, LSE	uc001qan.3	Q9HAT2		ENST00000263593.3:c.199A>C	11.37:g.124539286T>G	ENSP00000263593:p.Thr67Pro		OREG0021460	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1535	SIAE_ENST00000545756.1_Missense_Mutation_p.T32P	p.T67P			Q9HAT2	SIAE_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.63e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0243)	2	371	-	all_hematologic(175;0.215)	Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	67					B3KPB0|Q8IUT9|Q9HAU7|Q9NT71	Missense_Mutation	SNP	ENST00000263593.3	37	c.199A>C	CCDS8449.1	.	.	.	.	.	.	.	.	.	.	T	11.73	1.725668	0.30593	.	.	ENSG00000110013	ENST00000263593;ENST00000545756	D;D	0.85013	-1.93;-1.91	5.4	-8.07	0.01098	.	0.726558	0.13161	N	0.409048	T	0.72187	0.3429	L	0.46741	1.465	0.22571	N	0.998978	B;B	0.19583	0.007;0.037	B;B	0.14578	0.01;0.011	T	0.54642	-0.8263	10	0.48119	T	0.1	-3.4248	4.7723	0.13162	0.0937:0.4298:0.1912:0.2853	.	32;67	Q9HAT2-2;Q9HAT2	.;SIAE_HUMAN	P	67;32	ENSP00000263593:T67P;ENSP00000437877:T32P	ENSP00000263593:T67P	T	-	1	0	SIAE	124044496	0.000000	0.05858	0.000000	0.03702	0.951000	0.60555	-0.625000	0.05534	-1.950000	0.01030	0.533000	0.62120	ACC		0.522	SIAE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387070.1	NM_170601		28	64	0	0	0	0.788014	0	28	64					G	124539286	T	G	124539286	3	3	219	1	0	0	0	0	1	0	0	0	14298	1725	60	5	1408	5	SIAE	11	124539286	Missense_Mutation	SNP	T	TCGA-HC-7749-01A-11D-2114-08	21828403	124539286	10467230	44	10123											
TBX3	6926	broad.mit.edu	37	chr12	115109857	115109857	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctggcggccagggcggcgActttgccgtccaggggcccc	3	5	18	15	4	0	0	0	0	0	0	1	1	1	0	5	7	1	1	5	7	0	1			TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chr12:115109857A>C	ENST00000257566.3	-	8	2410	c.2021T>G	c.(2020-2022)gTc>gGc	p.V674G	TBX3_ENST00000349155.2_Missense_Mutation_p.V654G	NM_016569.3	NP_057653.3	O15119	TBX3_HUMAN	T-box 3	674	Transcription repression.			V -> A (in Ref. 1; AAD50989). {ECO:0000305}.	anterior/posterior axis specification, embryo (GO:0008595)|atrioventricular bundle cell differentiation (GO:0003167)|blood vessel development (GO:0001568)|branching involved in mammary gland duct morphogenesis (GO:0060444)|cardiac muscle cell fate commitment (GO:0060923)|cell aging (GO:0007569)|cellular senescence (GO:0090398)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|female genitalia development (GO:0030540)|follicle-stimulating hormone secretion (GO:0046884)|forelimb morphogenesis (GO:0035136)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|limbic system development (GO:0021761)|luteinizing hormone secretion (GO:0032275)|male genitalia development (GO:0030539)|mammary gland development (GO:0030879)|mammary placode formation (GO:0060596)|mesoderm morphogenesis (GO:0048332)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epithelial cell differentiation (GO:0030857)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|organ morphogenesis (GO:0009887)|outflow tract morphogenesis (GO:0003151)|palate development (GO:0060021)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell proliferation (GO:0008284)|positive regulation of stem cell proliferation (GO:2000648)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|sinoatrial node cell development (GO:0060931)|skeletal system development (GO:0001501)|specification of organ position (GO:0010159)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)|ventricular septum morphogenesis (GO:0060412)	nucleus (GO:0005634)	RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(5)|endometrium(1)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0574)		CAGGGCGGCGACTTTGCCGTC	0.721																																						ENST00000349155.2																			0				breast(5)|endometrium(1)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						c.(1960-1962)gTc>gGc		T-box 3							9	9	9					12																	115109857		2131	4138	6269	SO:0001583	missense	6926				anterior/posterior axis specification, embryo|anti-apoptosis|cell aging|embryonic arm morphogenesis|embryonic digit morphogenesis|female genitalia development|follicle-stimulating hormone secretion|luteinizing hormone secretion|male genitalia development|mesoderm morphogenesis|negative regulation of myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle|positive regulation of cell proliferation|regulation of transcription from RNA polymerase II promoter|skeletal system development	nucleus	sequence-specific DNA binding	g.chr12:115109857A>C	BC025258	CCDS9175.1, CCDS9176.1	12q24.21	2013-09-05	2008-07-31		ENSG00000135111	ENSG00000135111		"T-boxes"	11602	protein-coding gene	gene with protein product		601621	"ulnar mammary syndrome"	UMS		8988164	Standard	NM_005996		Approved	TBX3-ISO, XHL	uc001tvt.1	O15119	OTTHUMG00000169586	ENST00000257566.3:c.2021T>G	12.37:g.115109857A>C	ENSP00000257566:p.Val674Gly					TBX3_ENST00000257566.3_Missense_Mutation_p.V674G	p.V654G	NM_005996.3	NP_005987.3	O15119	TBX3_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.0574)	7	2924	-	Medulloblastoma(191;0.163)|all_neural(191;0.178)		674			Transcription repression.		Q8TB20|Q9UKF8	Missense_Mutation	SNP	ENST00000257566.3	37	c.1961T>G	CCDS9176.1	.	.	.	.	.	.	.	.	.	.	A	4.609	0.113265	0.08831	.	.	ENSG00000135111	ENST00000349155;ENST00000257566	D;D	0.87029	-2.2;-2.18	4.71	2.84	0.33178	.	2.694230	0.02726	N	0.114561	T	0.70343	0.3213	N	0.01874	-0.695	0.41446	D	0.987954	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.57365	-0.7824	10	0.16420	T	0.52	.	6.742	0.23441	0.1734:0.1453:0.6813:0.0	.	654;674	O15119-2;O15119	.;TBX3_HUMAN	G	654;674	ENSP00000257567:V654G;ENSP00000257566:V674G	ENSP00000257566:V674G	V	-	2	0	TBX3	113594240	0.198000	0.23374	0.943000	0.38184	0.312000	0.27988	2.574000	0.46016	0.399000	0.25367	-0.242000	0.12053	GTC		0.721	TBX3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000404947.2	NM_016569, NM_005996		2	10	0	0	0	0.115264	0	2	10					C	115109857	A	C	115109857	3	2	219	1	0	0	0	0	1	0	0	0	15656	275	10	5	214	5	TBX3	12	115109857	Missense_Mutation	SNP	A	TCGA-HC-7749-01A-11D-2114-08		115109857	18742038	45	10124											
SLITRK1	114798	broad.mit.edu	37	chr13	84454931	84454931	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gggggcttcgcagaccactcGgccgatcagggcattcttgg	6	8	15	12	3	2	1	1	0	1	1	4	2	2	1	2	5	0	3	2	5	0	3			TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chr13:84454931G>A	ENST00000377084.2	-	1	1597	c.712C>T	c.(712-714)Cga>Tga	p.R238*		NM_001281503.1|NM_052910.1	NP_001268432.1|NP_443142.1	Q96PX8	SLIK1_HUMAN	SLIT and NTRK-like family, member 1	238	LRRCT 1.				adult behavior (GO:0030534)|axonogenesis (GO:0007409)|homeostatic process (GO:0042592)|multicellular organism growth (GO:0035264)	integral component of membrane (GO:0016021)				NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	80	Medulloblastoma(90;0.18)	Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.07)		CAGACCACTCGGCCGATCAGG	0.522																																						ENST00000377084.2																			0				NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	80						c.(712-714)Cga>Tga		SLIT and NTRK-like family, member 1							57	59	58					13																	84454931		2203	4300	6503	SO:0001587	stop_gained	114798					integral to membrane		g.chr13:84454931G>A	AB067497	CCDS9464.1	13q31.1	2004-01-08	2004-01-08		ENSG00000178235	ENSG00000178235			20297	protein-coding gene	gene with protein product		609678	"leucine rich repeat containing 12"	LRRC12		14557068, 12975309	Standard	NM_001281503		Approved	KIAA1910	uc001vlk.3	Q96PX8	OTTHUMG00000017149	ENST00000377084.2:c.712C>T	13.37:g.84454931G>A	ENSP00000366288:p.Arg238*						p.R238*	NM_052910.1	NP_443142.1	Q96PX8	SLIK1_HUMAN		GBM - Glioblastoma multiforme(99;0.07)	1	1597	-	Medulloblastoma(90;0.18)	Breast(118;0.212)	238			LRRCT 1.		Q5U5I6|Q96SF9	Nonsense_Mutation	SNP	ENST00000377084.2	37	c.712C>T	CCDS9464.1	.	.	.	.	.	.	.	.	.	.	G	42	9.797387	0.99267	.	.	ENSG00000178235	ENST00000377084	.	.	.	4.71	2.94	0.34122	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.16420	T	0.52	-2.7743	11.6944	0.51536	0.0:0.0:0.4091:0.5909	.	.	.	.	X	238	.	ENSP00000366288:R238X	R	-	1	2	SLITRK1	83352932	0.546000	0.26457	0.995000	0.50966	0.912000	0.54170	0.257000	0.18369	0.571000	0.29365	-0.324000	0.08512	CGA		0.522	SLITRK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045396.1	NM_052910		11	68	0	0	0	0.457914	0	11	68					A	84454931	G	A	84454931	4	1	219	1	0	0	0	0	0	1	0	0	14742	1124	39	2	1382	2	SLITRK1	13	84454931	Nonsense_Mutation	SNP	G	TCGA-HC-7749-01A-11D-2114-08		84454931	30714947	46	10125											
OR6S1	341799	broad.mit.edu	37	chr14	21109305	21109305	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cggagcagtgggccactgtcGcagaagaagtgctgtaccac	10	6	14	11	2	0	2	0	0	0	2	1	3	0	3	2	2	3	4	2	2	3	1	rs376650163	byFrequency	TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chr14:21109305G>A	ENST00000320704.3	-	1	545	c.546C>T	c.(544-546)tgC>tgT	p.C182C		NM_001001968.1	NP_001001968.1	Q8NH40	OR6S1_HUMAN	olfactory receptor, family 6, subfamily S, member 1	182						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			kidney(1)|large_intestine(3)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23	all_cancers(95;0.00304)		Epithelial(56;1.23e-06)|all cancers(55;1.01e-05)	GBM - Glioblastoma multiforme(265;0.0135)		GGCCACTGTCGCAGAAGAAGT	0.587													G|||	2	0.000399361	0	0	5008	,	,		21782	0.001		0.001	False		,,,				2504	0					ENST00000320704.3																			0				kidney(1)|large_intestine(3)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23						c.(544-546)tgC>tgT		olfactory receptor, family 6, subfamily S, member 1		G		0,4406		0,0,2203	64	62	62		546	0.8	1	14		62	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	OR6S1	NM_001001968.1		0,2,6501	AA,AG,GG		0.0233,0.0,0.0154		182/332	21109305	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	341799				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:21109305G>A	AL163636	CCDS32038.1	14q11.2	2013-09-24			ENSG00000181803	ENSG00000181803		"GPCR / Class A : Olfactory receptors"	15363	protein-coding gene	gene with protein product							Standard	NM_001001968		Approved	OR6S1Q	uc001vxv.1	Q8NH40	OTTHUMG00000171010	ENST00000320704.3:c.546C>T	14.37:g.21109305G>A							p.C182C	NM_001001968.1	NP_001001968.1	Q8NH40	OR6S1_HUMAN	Epithelial(56;1.23e-06)|all cancers(55;1.01e-05)	GBM - Glioblastoma multiforme(265;0.0135)	1	545	-	all_cancers(95;0.00304)		182					Q6IFJ9	Silent	SNP	ENST00000320704.3	37	c.546C>T	CCDS32038.1																																																																																				0.587	OR6S1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411227.1			15	27	0	0	0	0.500413	0	15	27					A	21109305	G	A	21109305	2	1	219	1	0	0	0	0	0	0	0	1	11209	1079	38	1		1	OR6S1	14	21109305	Silent	SNP	G	TCGA-HC-7749-01A-11D-2114-08		21109305	86240235	47	10126											
CDH24	64403	broad.mit.edu	37	chr14	23517622	23517622	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgatgttctctcggacgtccTcctcctccagtaccatcagt	6	13	7	15	2	2	1	1	1	1	0	8	2	6	2	5	1	1	2	5	1	1	2			TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chr14:23517622T>C	ENST00000267383.5	-	12	2119	c.2027A>G	c.(2026-2028)gAg>gGg	p.E676G	CDH24_ENST00000485922.1_5'UTR|CDH24_ENST00000487137.2_Missense_Mutation_p.E638G|CDH24_ENST00000397359.3_Missense_Mutation_p.E676G|CDH24_ENST00000554034.1_Missense_Mutation_p.E638G			Q86UP0	CAD24_HUMAN	cadherin 24, type 2	676					adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)|delta-catenin binding (GO:0070097)			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	26	all_cancers(95;3.3e-05)			GBM - Glioblastoma multiforme(265;0.00654)		TCGGACGTCCTCCTCCTCCAG	0.667																																						ENST00000397359.3																			0				breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	26						c.(2026-2028)gAg>gGg		cadherin 24, type 2							77	80	79					14																	23517622		2203	4300	6503	SO:0001583	missense	64403				adherens junction organization|cell junction assembly|cell-cell adhesion|homophilic cell adhesion	cell-cell junction|integral to membrane	alpha-catenin binding|beta-catenin binding|calcium ion binding|delta-catenin binding	g.chr14:23517622T>C	AL137477	CCDS9585.1, CCDS9586.1	14q11.2	2010-08-20	2009-11-20		ENSG00000139880	ENSG00000139880		"Cadherins / Major cadherins"	14265	protein-coding gene	gene with protein product			"cadherin-like 24"			12734196	Standard	NM_022478		Approved	CDH11L	uc001wil.3	Q86UP0	OTTHUMG00000028715	ENST00000267383.5:c.2027A>G	14.37:g.23517622T>C	ENSP00000267383:p.Glu676Gly					CDH24_ENST00000487137.2_Missense_Mutation_p.E638G|CDH24_ENST00000554034.1_Missense_Mutation_p.E638G|CDH24_ENST00000485922.1_5'UTR|CDH24_ENST00000267383.5_Missense_Mutation_p.E676G	p.E676G	NM_022478.3	NP_071923.2	Q86UP0	CAD24_HUMAN		GBM - Glioblastoma multiforme(265;0.00654)	13	2286	-	all_cancers(95;3.3e-05)		676					D3DS44|Q86UP1|Q9NT84	Missense_Mutation	SNP	ENST00000267383.5	37	c.2027A>G	CCDS9585.1	.	.	.	.	.	.	.	.	.	.	T	18.25	3.582449	0.65992	.	.	ENSG00000139880	ENST00000397359;ENST00000487137;ENST00000422751;ENST00000554034;ENST00000267383	T;T;T;T	0.79352	-1.26;-1.26;-1.26;-1.26	3.84	3.84	0.44239	Cadherin, cytoplasmic domain (1);	0.135826	0.48286	D	0.000191	T	0.80082	0.4558	M	0.75615	2.305	0.40257	D	0.978131	D;B	0.56035	0.974;0.439	P;B	0.48189	0.57;0.172	D	0.83766	0.0217	10	0.87932	D	0	.	11.7723	0.51967	0.0:0.0:0.0:1.0	.	638;676	Q86UP0-2;Q86UP0	.;CAD24_HUMAN	G	676;638;171;638;676	ENSP00000380517:E676G;ENSP00000434821:E638G;ENSP00000452493:E638G;ENSP00000267383:E676G	ENSP00000267383:E676G	E	-	2	0	CDH24	22587462	1.000000	0.71417	1.000000	0.80357	0.854000	0.48673	4.913000	0.63341	1.621000	0.50320	0.482000	0.46254	GAG		0.667	CDH24-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000257241.2	NM_022478		4	167	0	0	0	0.150653	0	4	167					C	23517622	T	C	23517622	3	2	219	1	0	0	0	0	1	0	0	0	3109	1551	54	4	436	4	CDH24	14	23517622	Missense_Mutation	SNP	T	TCGA-HC-7749-01A-11D-2114-08	2408317	23517622	83831918	48	10127											
YLPM1	56252	broad.mit.edu	37	chr14	75265762	75265768	+	Frame_Shift_Del	DEL	GTCTCAT	GTCTCAT	-																															ttctcagcaccaccatctcgGtctcatgatggagataggcg																										TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chr14:75265762_75265768delGTCTCAT	ENST00000325680.7	+	5	3886_3892	c.3762_3768delGTCTCAT	c.(3760-3768)cggtctcatfs	p.RSH1254fs	YLPM1_ENST00000238571.3_Frame_Shift_Del_p.RSH1059fs|YLPM1_ENST00000552421.1_Intron	NM_019589.2	NP_062535.2	P49750	YLPM1_HUMAN	YLP motif containing 1	1059					regulation of telomere maintenance (GO:0032204)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)			breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	62			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)		CACCATCTCGGTCTCATGATGGAGATA	0.488																																						ENST00000325680.7																			0				breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	62						c.(3760-3768)cgfs		YLP motif containing 1																																				SO:0001589	frameshift_variant	56252				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck		g.chr14:75265762_75265768delGTCTCAT	AK090435	CCDS45135.1	14q24.3	2014-06-13	2004-07-15	2004-07-15	ENSG00000119596	ENSG00000119596			17798	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 169"		"chromosome 14 open reading frame 170"	C14orf170		7596406	Standard	NM_019589		Approved	ZAP, PPP1R169	uc001xqj.4	P49750	OTTHUMG00000172503	ENST00000325680.7:c.3762_3768delGTCTCAT	14.37:g.75265762_75265768delGTCTCAT	ENSP00000324463:p.Arg1254fs					YLPM1_ENST00000552421.1_Intron|YLPM1_ENST00000238571.3_Frame_Shift_Del_p.RSH1059fs	p.RSH1254fs	NM_019589.2	NP_062535.2	P49750	YLPM1_HUMAN	KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)	5	3886_3892	+			1059					P49752|Q96I64|Q9P1V7	Frame_Shift_Del	DEL	ENST00000325680.7	37	c.3762_3768delGTCTCAT	CCDS45135.1																																																																																				0.488	YLPM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404451.1	NM_019589		7	58						7	58	---	---	---	---	-	75265768	GTCTCAT	-	75265762	7	5	219	1	0	1	0	1	0	0	0	0	17483	1248	44	0	3780	0	YLPM1	14	75265762	Frame_Shift_Del	DEL	GTCTCAT	TCGA-HC-7749-01A-11D-2114-08	51748140	75265762	32083778	49	10128											
ATXN3	4287	broad.mit.edu	37	chr14	92548749	92548749	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcaaatcctcctcatcttCgtctaacattcctgagccat	9	13	4	15	1	3	1	1	1	2	0	7	1	6	1	4	0	3	1	4	0	2	3	rs377574592		TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chr14:92548749C>A	ENST00000532032.1	-	8	679	c.670G>T	c.(670-672)Gaa>Taa	p.E224*	ATXN3_ENST00000429774.2_Nonsense_Mutation_p.E209*|ATXN3_ENST00000340660.6_Nonsense_Mutation_p.E169*|ATXN3_ENST00000502250.1_Nonsense_Mutation_p.E45*|ATXN3_ENST00000503767.1_Nonsense_Mutation_p.E209*|ATXN3_ENST00000545170.1_Nonsense_Mutation_p.E224*|ATXN3_ENST00000554491.1_5'UTR|ATXN3_ENST00000393287.5_Nonsense_Mutation_p.E224*			P54252	ATX3_HUMAN	ataxin 3	224					actin cytoskeleton organization (GO:0030036)|cell death (GO:0008219)|cellular response to misfolded protein (GO:0071218)|intermediate filament cytoskeleton organization (GO:0045104)|microtubule cytoskeleton organization (GO:0000226)|misfolded or incompletely synthesized protein catabolic process (GO:0006515)|monoubiquitinated protein deubiquitination (GO:0035520)|nervous system development (GO:0007399)|nucleotide-excision repair (GO:0006289)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|regulation of cell-substrate adhesion (GO:0010810)|regulation of transcription, DNA-templated (GO:0006355)|synaptic transmission (GO:0007268)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATPase binding (GO:0051117)|identical protein binding (GO:0042802)|Lys48-specific deubiquitinase activity (GO:1990380)|Lys63-specific deubiquitinase activity (GO:0061578)|omega peptidase activity (GO:0008242)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			endometrium(2)|large_intestine(1)|lung(7)|prostate(1)|stomach(1)	12		all_cancers(154;0.0768)		COAD - Colon adenocarcinoma(157;0.224)		TCCTCATCTTCGTCTAACATT	0.443																																					Esophageal Squamous(190;752 2094 29897 44875 49530)	ENST00000545170.1																			0				endometrium(2)|large_intestine(1)|lung(7)|prostate(1)|stomach(1)	12						c.(670-672)Gaa>Taa		ataxin 3							164	141	149					14																	92548749		2203	4300	6503	SO:0001587	stop_gained	4287				cell death|nervous system development|nucleotide-excision repair|regulation of transcription, DNA-dependent|synaptic transmission|transcription, DNA-dependent	cytoplasm|nuclear matrix|nucleoplasm	cysteine-type peptidase activity|protein binding	g.chr14:92548749C>A	U64820	CCDS9900.1, CCDS32143.1, CCDS45154.1, CCDS53908.1, CCDS73680.1	14q21	2014-09-17	2004-08-12	2004-08-13	ENSG00000066427	ENSG00000066427		"Ataxins"	7106	protein-coding gene	gene with protein product		607047	"Machado-Joseph disease (spinocerebellar ataxia 3, olivopontocerebellar ataxia 3, autosomal dominant, ataxin 3)"	SCA3, MJD		8358439	Standard	NM_004993		Approved	ATX3, JOS	uc001yac.4	P54252	OTTHUMG00000162212	ENST00000532032.1:c.670G>T	14.37:g.92548749C>A	ENSP00000437157:p.Glu224*					ATXN3_ENST00000503767.1_Nonsense_Mutation_p.E209*|ATXN3_ENST00000393287.5_Nonsense_Mutation_p.E224*|ATXN3_ENST00000502250.1_Nonsense_Mutation_p.E45*|ATXN3_ENST00000340660.6_Nonsense_Mutation_p.E169*|ATXN3_ENST00000429774.2_Nonsense_Mutation_p.E209*|ATXN3_ENST00000554491.1_5'UTR|ATXN3_ENST00000532032.1_Nonsense_Mutation_p.E224*	p.E224*	NM_001164774.1|NM_001164776.1|NM_001164777.1|NM_001164778.1|NM_004993.5	NP_001158246.1|NP_001158248.1|NP_001158249.1|NP_001158250.1|NP_004984.2	P54252	ATX3_HUMAN		COAD - Colon adenocarcinoma(157;0.224)	8	738	-		all_cancers(154;0.0768)	224					A7LFZ5|D6RDL9|E9PB63|O15284|O15285|O15286|Q8N189|Q96TC3|Q96TC4|Q9H3N0	Nonsense_Mutation	SNP	ENST00000532032.1	37	c.670G>T		.	.	.	.	.	.	.	.	.	.	C	25.4	4.633485	0.87660	.	.	ENSG00000066427	ENST00000545278;ENST00000539555;ENST00000537884;ENST00000545170;ENST00000447800;ENST00000359819;ENST00000393289;ENST00000429774;ENST00000539454;ENST00000393287;ENST00000502250;ENST00000503767;ENST00000340660;ENST00000532032;ENST00000555381;ENST00000557311;ENST00000554592;ENST00000554672;ENST00000553491;ENST00000556220;ENST00000506466	.	.	.	5.29	5.29	0.74685	.	0.101649	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	.	18.9846	0.92765	0.0:1.0:0.0:0.0	.	.	.	.	X	224;224;224;224;224;224;224;209;223;224;45;209;169;224;154;45;223;126;173;118;158	.	ENSP00000339110:E169X	E	-	1	0	ATXN3	91618502	1.000000	0.71417	0.988000	0.46212	0.759000	0.43091	7.322000	0.79097	2.490000	0.84030	0.485000	0.47835	GAA		0.443	ATXN3-015	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000388065.1	NM_004993		34	79	1	0	2.75727e-19	0.804634	3.01081e-19	34	79					A	92548749	C	A	92548749	4	1	219	1	0	0	0	0	0	1	0	0	1213	893	31	5	431	5	ATXN3	14	92548749	Nonsense_Mutation	SNP	C	TCGA-HC-7749-01A-11D-2114-08	17282987	92548749	14800791	50	10129											
CGNL1	84952	broad.mit.edu	37	chr15	57837818	57837818	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaatcttcagctcagcaacCggcggctggagcggaaagtg	10	6	13	12	3	3	0	2	0	1	0	3	2	3	2	2	4	4	3	2	4	3	1			TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chr15:57837818C>T	ENST00000281282.5	+	17	3607	c.3529C>T	c.(3529-3531)Cgg>Tgg	p.R1177W		NM_001252335.1|NM_032866.4	NP_001239264.1|NP_116255.2	Q0VF96	CGNL1_HUMAN	cingulin-like 1	1177						myosin complex (GO:0016459)|tight junction (GO:0005923)	motor activity (GO:0003774)			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(14)|ovary(4)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)	60				all cancers(107;0.121)|GBM - Glioblastoma multiforme(80;0.186)		GCTCAGCAACCGGCGGCTGGA	0.602																																						ENST00000281282.5																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(14)|ovary(4)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)	60						c.(3529-3531)Cgg>Tgg		cingulin-like 1							48	38	42					15																	57837818		2192	4292	6484	SO:0001583	missense	84952					myosin complex|tight junction	motor activity	g.chr15:57837818C>T	AY274808	CCDS10161.1	15q21.3	2011-06-10			ENSG00000128849	ENSG00000128849			25931	protein-coding gene	gene with protein product		607856				11214970	Standard	NM_001252335		Approved	FLJ14957, JACOP, KIAA1749, paracingulin	uc002aeg.3	Q0VF96	OTTHUMG00000166485	ENST00000281282.5:c.3529C>T	15.37:g.57837818C>T	ENSP00000281282:p.Arg1177Trp						p.R1177W	NM_001252335.1|NM_032866.4	NP_001239264.1|NP_116255.2	Q0VF96	CGNL1_HUMAN		all cancers(107;0.121)|GBM - Glioblastoma multiforme(80;0.186)	17	3607	+			1177					Q05BZ4|Q52LR0|Q695C7|Q7Z2L3|Q96JV2|Q96MN6|Q9C0B4	Missense_Mutation	SNP	ENST00000281282.5	37	c.3529C>T	CCDS10161.1	.	.	.	.	.	.	.	.	.	.	C	24.3	4.512031	0.85389	.	.	ENSG00000128849	ENST00000281282	D	0.86497	-2.13	5.39	4.39	0.52855	Myosin tail (1);	0.000000	0.45606	D	0.000346	D	0.95101	0.8413	M	0.93328	3.405	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	D	0.96272	0.9199	10	0.87932	D	0	-18.1864	16.8173	0.85737	0.1373:0.8627:0.0:0.0	.	1177	Q0VF96	CGNL1_HUMAN	W	1177	ENSP00000281282:R1177W	ENSP00000281282:R1177W	R	+	1	2	CGNL1	55625110	1.000000	0.71417	0.997000	0.53966	0.984000	0.73092	4.876000	0.63079	2.526000	0.85167	0.563000	0.77884	CGG		0.602	CGNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255482.2	NM_032866		3	32	0	0	0	0.115264	0	3	32					T	57837818	C	T	57837818	3	4	219	1	0	0	0	0	1	0	0	0	3304	643	23	2	3591	2	CGNL1	15	57837818	Missense_Mutation	SNP	C	TCGA-HC-7749-01A-11D-2114-08		57837818	44693574	51	10130											
XYLT1	64131	broad.mit.edu	37	chr16	17221576	17221577	+	Frame_Shift_Ins	INS	-	-	T																															gggcttgcgatcttgaagacINSttttttcggcatcacccagg																										TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chr16:17221576_17221577insT	ENST00000261381.6	-	10	2253_2254	c.2169_2170insA	c.(2167-2172)aaagtcfs	p.V724fs		NM_022166.3	NP_071449.1	Q86Y38	XYLT1_HUMAN	xylosyltransferase I	724					cellular response to heat (GO:0034605)|chondroitin sulfate biosynthetic process (GO:0030206)|glycosaminoglycan biosynthetic process (GO:0006024)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)	endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	acetylglucosaminyltransferase activity (GO:0008375)|protein xylosyltransferase activity (GO:0030158)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						ATCTTGAAGACTTTTTTCGGCA	0.49																																						ENST00000261381.6																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						c.(2167-2172)aatcttfs		xylosyltransferase I																																				SO:0001589	frameshift_variant	64131				glycosaminoglycan biosynthetic process	endoplasmic reticulum membrane|extracellular region|Golgi membrane|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity	g.chr16:17221576_17221577insT	AJ277441	CCDS10569.1	16p12	2013-02-25			ENSG00000103489	ENSG00000103489	2.4.2.26	"Glucosaminyl (N-acetyl) transferase and xylosyltransferase family"	15516	protein-coding gene	gene with protein product	"protein xylosyltransferase 1"	608124				11099377	Standard	NM_022166		Approved	XT-I, PXYLT1	uc002dfa.3	Q86Y38	OTTHUMG00000129975	ENST00000261381.6:c.2170dupA	16.37:g.17221582_17221582dupT	ENSP00000261381:p.Val724fs						p.NL723fs	NM_022166.3	NP_071449.1	Q86Y38	XYLT1_HUMAN			10	2253_2254	-			723					Q9H1B6	Frame_Shift_Ins	INS	ENST00000261381.6	37	c.2169_2170insA	CCDS10569.1																																																																																				0.49	XYLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252241.2	NM_022166		22	186						22	186	---	---	---	---	T	17221577	-	T	17221576	7	5	219	1	0	1	1	0	0	0	0	0	17460	565	20	0	721	0	XYLT1	16	17221576	Frame_Shift_Ins	INS	-	TCGA-HC-7749-01A-11D-2114-08		17221576	73133177	52	10131											
ZNF423	23090	broad.mit.edu	37	chr16	49669907	49669907	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctggccattgggggaggaCgccgctgagctgcccgccag	5	5	16	15	3	0	1	0	1	0	0	0	3	0	3	5	4	2	2	5	4	0	1	rs117592972	byFrequency	TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chr16:49669907C>T	ENST00000561648.1	-	4	3209	c.3156G>A	c.(3154-3156)gcG>gcA	p.A1052A	ZNF423_ENST00000562871.1_Silent_p.A992A|ZNF423_ENST00000567169.1_Silent_p.A935A|ZNF423_ENST00000562520.1_Silent_p.A992A|ZNF423_ENST00000262383.2_Silent_p.A1052A|ZNF423_ENST00000563137.2_Silent_p.A992A|ZNF423_ENST00000535559.1_Silent_p.A935A	NM_001271620.1	NP_001258549.1	Q2M1K9	ZN423_HUMAN	zinc finger protein 423	1052					cell differentiation (GO:0030154)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	89		all_cancers(37;0.0155)				TGGGGGAGGACGCCGCTGAGC	0.602													C|||	9	0.00179712	0	0	5008	,	,		16583	0.0089		0	False		,,,				2504	0					ENST00000561648.1																			0				breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	89						c.(3154-3156)gcG>gcA		zinc finger protein 423		C		2,4396	4.2+/-10.8	0,2,2197	42	40	41		3156	-10.2	0	16	dbSNP_132	41	5,8595	4.3+/-15.6	0,5,4295	no	coding-synonymous	ZNF423	NM_015069.2		0,7,6492	TT,TC,CC		0.0581,0.0455,0.0539		1052/1285	49669907	7,12991	2199	4300	6499	SO:0001819	synonymous_variant	23090				cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	g.chr16:49669907C>T	AB018303	CCDS32445.1, CCDS61930.1	16q12	2014-01-28				ENSG00000102935		"Zinc fingers, C2H2-type"	16762	protein-coding gene	gene with protein product	"OLF-1/EBF associated zinc finger gene", " Smad- and Olf-interacting zinc finger protein", "early B-cell factor associated zinc finger protein"	604557				9872452, 10660046	Standard	NM_001271620		Approved	KIAA0760, OAZ, Roaz, Ebfaz, Zfp104, NPHP14, JBTS19	uc031qwd.1	Q2M1K9		ENST00000561648.1:c.3156G>A	16.37:g.49669907C>T						ZNF423_ENST00000567169.1_Silent_p.A935A|ZNF423_ENST00000262383.2_Silent_p.A1052A|ZNF423_ENST00000535559.1_Silent_p.A935A|ZNF423_ENST00000562520.1_Silent_p.A992A|ZNF423_ENST00000563137.2_Silent_p.A992A|ZNF423_ENST00000562871.1_Silent_p.A992A	p.A1052A	NM_001271620.1	NP_001258549.1	Q2M1K9	ZN423_HUMAN			4	3209	-		all_cancers(37;0.0155)	1052					O94860|Q76N04|Q9NZ13	Silent	SNP	ENST00000561648.1	37	c.3156G>A	CCDS32445.1																																																																																				0.602	ZNF423-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000423258.1	NM_015069		4	17	0	0	0	0.150653	0	4	17					T	49669907	C	T	49669907	2	4	219	1	0	0	0	0	0	0	0	1	17895	523	19	1		1	ZNF423	16	49669907	Silent	SNP	C	TCGA-HC-7749-01A-11D-2114-08	32448331	49669907	40684846	53	10132											
MYH4	4622	broad.mit.edu	37	chr17	10350362	10350362	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagttgcacacgttcactggCatccagaagctcttgctctg	9	11	9	12	1	3	1	1	0	2	1	4	1	4	1	1	1	3	6	1	1	2	3			TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chr17:10350362C>T	ENST00000255381.2	-	35	5247	c.5137G>A	c.(5137-5139)Gcc>Acc	p.A1713T	CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000399342.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	1713					actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|membrane organization (GO:0061024)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|response to activity (GO:0014823)	muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|microfilament motor activity (GO:0000146)			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						CGTTCACTGGCATCCAGAAGC	0.488																																						ENST00000255381.2																			0				NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						c.(5137-5139)Gcc>Acc		myosin, heavy chain 4, skeletal muscle							150	122	132					17																	10350362		2203	4300	6503	SO:0001583	missense	4622				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr17:10350362C>T		CCDS11154.1	17p13.1	2013-09-19	2006-09-29		ENSG00000264424	ENSG00000264424		"Myosins / Myosin superfamily : Class II"	7574	protein-coding gene	gene with protein product		160742	"myosin, heavy polypeptide 4, skeletal muscle"			8518795	Standard	NM_017533		Approved	MYH2B, MyHC-2B, MyHC-IIb	uc002gmn.3	Q9Y623	OTTHUMG00000130365	ENST00000255381.2:c.5137G>A	17.37:g.10350362C>T	ENSP00000255381:p.Ala1713Thr					CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA	p.A1713T	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN			35	5247	-			1713						Missense_Mutation	SNP	ENST00000255381.2	37	c.5137G>A	CCDS11154.1	.	.	.	.	.	.	.	.	.	.	C	16.29	3.080802	0.55753	.	.	ENSG00000141048	ENST00000255381	T	0.79749	-1.3	5.29	5.29	0.74685	Myosin tail (1);	0.000000	0.37136	U	0.002221	T	0.81870	0.4914	M	0.62723	1.935	0.48288	D	0.999624	B	0.17038	0.02	B	0.30029	0.11	T	0.78168	-0.2309	10	0.51188	T	0.08	.	19.286	0.94069	0.0:1.0:0.0:0.0	.	1713	Q9Y623	MYH4_HUMAN	T	1713	ENSP00000255381:A1713T	ENSP00000255381:A1713T	A	-	1	0	MYH4	10291087	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.028000	0.70889	2.646000	0.89796	0.563000	0.77884	GCC		0.488	MYH4-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252731.1	NM_017533		41	66	0	0	0	0.870114	0	41	66					T	10350362	C	T	10350362	3	4	219	1	0	0	0	0	1	0	0	0	10037	710	25	3	706	3	MYH4	17	10350362	Missense_Mutation	SNP	C	TCGA-HC-7749-01A-11D-2114-08		10350362	70844848	54	10133											
KRTAP3-3	85293	broad.mit.edu	37	chr17	39150283	39150283	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tccacagcggcaggatttgtCagaggagcagatggtggtgg	9	8	17	7	1	1	2	1	0	0	2	2	4	2	4	1	6	2	2	1	6	0	1			TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chr17:39150283C>G	ENST00000391586.1	-	1	102	c.67G>C	c.(67-69)Gac>Cac	p.D23H		NM_033185.2	NP_149441.1	Q9BYR6	KRA33_HUMAN	keratin associated protein 3-3	23	3 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			lung(2)|prostate(2)	4		Breast(137;0.00043)				CAGGATTTGTCAGAGGAGCAG	0.582																																						ENST00000391586.1																			0				lung(2)|prostate(2)	4						c.(67-69)Gac>Cac		keratin associated protein 3-3							90	90	90					17																	39150283		2203	4296	6499	SO:0001583	missense	85293					keratin filament	structural molecule activity	g.chr17:39150283C>G	AJ406933	CCDS32643.1	17q21.2	2013-06-25			ENSG00000212899	ENSG00000212899		"Keratin associated proteins"	18890	protein-coding gene	gene with protein product						11279113	Standard	NM_033185		Approved	KAP3.3	uc002hvr.1	Q9BYR6	OTTHUMG00000133591	ENST00000391586.1:c.67G>C	17.37:g.39150283C>G	ENSP00000375428:p.Asp23His						p.D23H	NM_033185.2	NP_149441.1	Q9BYR6	KRA33_HUMAN			1	102	-		Breast(137;0.00043)	23			3 X 5 AA repeats of C-C-X(3).		Q52LP0|Q6NTD4	Missense_Mutation	SNP	ENST00000391586.1	37	c.67G>C	CCDS32643.1	.	.	.	.	.	.	.	.	.	.	C	13.79	2.342901	0.41498	.	.	ENSG00000212899	ENST00000391586	T	0.34472	1.36	5.62	5.62	0.85841	.	0.095279	0.45606	D	0.000351	T	0.58991	0.2161	.	.	.	0.43448	D	0.995631	D	0.63880	0.993	D	0.64877	0.93	T	0.62181	-0.6908	9	0.87932	D	0	.	15.232	0.73398	0.0:1.0:0.0:0.0	.	23	Q9BYR6	KRA33_HUMAN	H	23	ENSP00000375428:D23H	ENSP00000375428:D23H	D	-	1	0	KRTAP3-3	36403809	0.987000	0.35691	0.614000	0.29051	0.005000	0.04900	3.511000	0.53400	2.652000	0.90054	0.650000	0.86243	GAC		0.582	KRTAP3-3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257695.1			9	156	0	0	0	0.335167	0	9	156					G	39150283	C	G	39150283	3	3	219	1	0	0	0	0	1	0	0	0	8547	826	29	5	233	5	KRTAP3-3	17	39150283	Missense_Mutation	SNP	C	TCGA-HC-7749-01A-11D-2114-08	28799921	39150283	42044927	55	10134											
RPTOR	57521	broad.mit.edu	37	chr17	78857260	78857260	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gctttcattctcgccgtgatCgtcaacagctatcacacggg	8	11	9	13	4	4	1	3	1	1	0	6	1	4	1	1	1	2	2	1	1	2	3			TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chr17:78857260C>T	ENST00000306801.3	+	15	1988	c.1626C>T	c.(1624-1626)atC>atT	p.I542I	RPTOR_ENST00000544334.2_Intron|RPTOR_ENST00000575542.1_3'UTR	NM_020761.2	NP_065812.1	Q8N122	RPTOR_HUMAN	regulatory associated protein of MTOR, complex 1	542					cell cycle arrest (GO:0007050)|cell growth (GO:0016049)|cellular response to amino acid stimulus (GO:0071230)|cellular response to nutrient levels (GO:0031669)|insulin receptor signaling pathway (GO:0008286)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of TOR signaling (GO:0032008)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|regulation of cell size (GO:0008361)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|TORC1 complex (GO:0031931)	14-3-3 protein binding (GO:0071889)|protein complex binding (GO:0032403)|protein kinase binding (GO:0019901)|RNA polymerase III type 1 promoter DNA binding (GO:0001030)|RNA polymerase III type 2 promoter DNA binding (GO:0001031)|RNA polymerase III type 3 promoter DNA binding (GO:0001032)|TFIIIC-class transcription factor binding (GO:0001156)			breast(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3)	44						TCGCCGTGATCGTCAACAGCT	0.587																																						ENST00000306801.3																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3)	44						c.(1624-1626)atC>atT		regulatory associated protein of MTOR, complex 1							92	74	80					17																	78857260		2203	4300	6503	SO:0001819	synonymous_variant	57521				cell cycle arrest|cell growth|cellular response to amino acid stimulus|cellular response to nutrient levels|insulin receptor signaling pathway|positive regulation of protein serine/threonine kinase activity|positive regulation of TOR signaling cascade|TOR signaling cascade	cytosol|lysosome|TORC1 complex	protein complex binding	g.chr17:78857260C>T		CCDS11773.1, CCDS54175.1	17q25.3	2013-01-10				ENSG00000141564		"WD repeat domain containing"	30287	protein-coding gene	gene with protein product	"regulatory associated protein of mTOR"	607130				10718198, 12150926	Standard	NM_001163034		Approved	KOG1, Mip1, KIAA1303, raptor	uc002jyt.1	Q8N122		ENST00000306801.3:c.1626C>T	17.37:g.78857260C>T						RPTOR_ENST00000575542.1_3'UTR|RPTOR_ENST00000544334.2_Intron	p.I542I	NM_020761.2	NP_065812.1	Q8N122	RPTOR_HUMAN			15	1988	+			542					B2RN36|C6KEF2|F5H7J5|Q8N4V9|Q8TB32|Q9P2P3	Silent	SNP	ENST00000306801.3	37	c.1626C>T	CCDS11773.1																																																																																				0.587	RPTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438125.1	NM_020761		22	52	0	0	0	0.667858	0	22	52					T	78857260	C	T	78857260	2	4	219	1	0	0	0	0	0	0	0	1	13665	874	31	2		2	RPTOR	17	78857260	Silent	SNP	C	TCGA-HC-7749-01A-11D-2114-08	39706977	78857260	2337950	56	10135											
NAPG	8774	broad.mit.edu	37	chr18	10540386	10540386	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aagcctccagactactagtaCgaggacgtaggtatgtcttt	11	11	10	9	2	1	1	0	0	1	1	2	3	2	2	2	2	3	3	2	2	6	6			TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chr18:10540386C>G	ENST00000322897.6	+	8	565	c.496C>G	c.(496-498)Cga>Gga	p.R166G	NAPG_ENST00000542979.1_Missense_Mutation_p.R84G	NM_003826.2	NP_003817.1	Q99747	SNAG_HUMAN	N-ethylmaleimide-sensitive factor attachment protein, gamma	166					intra-Golgi vesicle-mediated transport (GO:0006891)|intracellular protein transport (GO:0006886)|membrane fusion (GO:0061025)|protein complex assembly (GO:0006461)|protein stabilization (GO:0050821)	extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|mitochondrion (GO:0005739)				large_intestine(2)|lung(2)	4						ACTACTAGTACGAGGACGTAG	0.373																																						ENST00000322897.6																			0				large_intestine(2)|lung(2)	4						c.(496-498)Cga>Gga		N-ethylmaleimide-sensitive factor attachment protein, gamma							88	83	85					18																	10540386		1847	4091	5938	SO:0001583	missense	8774				cellular membrane fusion|intra-Golgi vesicle-mediated transport|intracellular protein transport|protein complex assembly|protein stabilization	membrane|membrane fraction|mitochondrion	protein binding	g.chr18:10540386C>G	U78107	CCDS45827.1	18p11.21	2013-02-28			ENSG00000134265	ENSG00000134265			7642	protein-coding gene	gene with protein product	"gamma SNAP"	603216				9269766	Standard	NM_003826		Approved		uc002kon.3	Q99747	OTTHUMG00000179119	ENST00000322897.6:c.496C>G	18.37:g.10540386C>G	ENSP00000324628:p.Arg166Gly					NAPG_ENST00000542979.1_Missense_Mutation_p.R84G	p.R166G	NM_003826.2	NP_003817.1	Q99747	SNAG_HUMAN			8	565	+			166					B4DFC9|Q9BUV1	Missense_Mutation	SNP	ENST00000322897.6	37	c.496C>G	CCDS45827.1	.	.	.	.	.	.	.	.	.	.	C	18.48	3.632661	0.67015	.	.	ENSG00000134265	ENST00000322897;ENST00000542979	T;T	0.29917	1.55;1.55	5.96	5.04	0.67666	Tetratricopeptide-like helical (1);	0.107909	0.64402	D	0.000009	T	0.48572	0.1507	M	0.78637	2.42	0.58432	D	0.999995	D	0.63880	0.993	P	0.53490	0.727	T	0.53180	-0.8475	10	0.87932	D	0	-4.0964	14.5618	0.68144	0.2594:0.7406:0.0:0.0	.	166	Q99747	SNAG_HUMAN	G	166;84	ENSP00000324628:R166G;ENSP00000442849:R84G	ENSP00000324628:R166G	R	+	1	2	NAPG	10530386	0.952000	0.32445	0.947000	0.38551	0.925000	0.55904	2.132000	0.42083	2.823000	0.97156	0.650000	0.86243	CGA		0.373	NAPG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444873.1	NM_003826		17	43	0	0	0	0.575678	0	17	43					G	10540386	C	G	10540386	3	3	219	1	0	0	0	0	1	0	0	0	10164	528	19	5	526	5	NAPG	18	10540386	Missense_Mutation	SNP	C	TCGA-HC-7749-01A-11D-2114-08		10540386	67536862	57	10136											
IMPACT	55364	broad.mit.edu	37	chr18	22008832	22008832	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtttttgaacctgcattgtaGgtgatgctgccgaatgaata	10	14	11	6	1	0	3	0	3	0	0	0	4	0	3	2	1	4	4	2	1	5	5			TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chr18:22008832G>A	ENST00000284202.4	+	3	306		c.e3-1		Y_RNA_ENST00000362766.1_RNA	NM_018439.3	NP_060909	Q9P2X3	IMPCT_HUMAN	impact RWD domain protein						negative regulation of protein phosphorylation (GO:0001933)|regulation of translational initiation (GO:0006446)	cytoplasm (GO:0005737)				endometrium(1)|large_intestine(3)|lung(9)|skin(1)|upper_aerodigestive_tract(2)	16	all_cancers(21;0.00018)|all_epithelial(16;1.5e-06)|Lung NSC(20;0.0027)|all_lung(20;0.0085)|Colorectal(14;0.0361)|Ovarian(20;0.0991)					CTGCATTGTAGGTGATGCTGC	0.373																																						ENST00000284202.4																			0				endometrium(1)|large_intestine(3)|lung(9)|skin(1)|upper_aerodigestive_tract(2)	16						c.e3-1		impact RWD domain protein							123	109	114					18																	22008832		2203	4300	6503	SO:0001630	splice_region_variant	55364							g.chr18:22008832G>A	AB026264	CCDS11886.1	18q11.2-q12.1	2012-12-07	2012-12-07		ENSG00000154059	ENSG00000154059			20387	protein-coding gene	gene with protein product	"RWD domain containing 5"	615319	"Impact homolog (mouse)"			11116084	Standard	NM_018439		Approved	RWDD5	uc002kvh.4	Q9P2X3	OTTHUMG00000131943	ENST00000284202.4:c.166-1G>A	18.37:g.22008832G>A								NM_018439.3	NP_060909.1	Q9P2X3	IMPCT_HUMAN			3	306	+	all_cancers(21;0.00018)|all_epithelial(16;1.5e-06)|Lung NSC(20;0.0027)|all_lung(20;0.0085)|Colorectal(14;0.0361)|Ovarian(20;0.0991)							A8MXG0|Q49AM0|Q9H2X4	Splice_Site	SNP	ENST00000284202.4	37		CCDS11886.1	.	.	.	.	.	.	.	.	.	.	G	16.44	3.124245	0.56613	.	.	ENSG00000154059	ENST00000284202	.	.	.	4.95	4.95	0.65309	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.304	0.87190	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	IMPACT	20262830	1.000000	0.71417	0.998000	0.56505	0.733000	0.41908	7.361000	0.79497	2.434000	0.82447	0.561000	0.74099	.		0.373	IMPACT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254901.1	NM_018439	Intron	6	50	0	0	0	0.307466	0	6	50					A	22008832	G	A	22008832	5	1	219	1	0	0	0	0	0	0	1	0	7724	1014	35	3	175	3	IMPACT	18	22008832	Splice_Site	SNP	G	TCGA-HC-7749-01A-11D-2114-08	11468446	22008832	56068416	58	10137											
LIPG	9388	broad.mit.edu	37	chr18	47110059	47110059	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	acaacctgtggaaggagtttCgcagctacctgtctcaaccc	10	9	9	13	1	1	0	1	0	1	0	3	2	1	2	3	2	4	3	3	2	4	2	rs536799767		TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chr18:47110059C>T	ENST00000261292.4	+	8	1569	c.1291C>T	c.(1291-1293)Cgc>Tgc	p.R431C	LIPG_ENST00000427224.2_Missense_Mutation_p.R357C	NM_006033.2	NP_006024.1	Q9Y5X9	LIPE_HUMAN	lipase, endothelial	431	PLAT. {ECO:0000255|PROSITE- ProRule:PRU00152}.				cell proliferation (GO:0008283)|cholesterol homeostasis (GO:0042632)|high-density lipoprotein particle remodeling (GO:0034375)|lipid metabolic process (GO:0006629)|phospholipid catabolic process (GO:0009395)|phospholipid homeostasis (GO:0055091)|positive regulation of cholesterol transport (GO:0032376)|positive regulation of high-density lipoprotein particle clearance (GO:0010983)|regulation of lipoprotein metabolic process (GO:0050746)|response to nutrient (GO:0007584)|reverse cholesterol transport (GO:0043691)	extracellular space (GO:0005615)	heparin binding (GO:0008201)|lipoprotein lipase activity (GO:0004465)|phosphatidylcholine 1-acylhydrolase activity (GO:0008970)|phospholipase activity (GO:0004620)	p.R431C(1)		autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)|skin(2)	18						GAAGGAGTTTCGCAGCTACCT	0.592													C|||	1	0.000199681	0	0	5008	,	,		19702	0.001		0	False		,,,				2504	0				Pancreas(126;280 1778 12814 26243 34948)	ENST00000261292.4																			1	Substitution - Missense(1)	p.R431C(1)	autonomic_ganglia(1)	autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)|skin(2)	18						c.(1291-1293)Cgc>Tgc		lipase, endothelial							73	65	68					18																	47110059		2203	4300	6503	SO:0001583	missense	9388				cholesterol homeostasis|high-density lipoprotein particle remodeling|phospholipid catabolic process|phospholipid homeostasis|positive regulation of cholesterol transport|positive regulation of high-density lipoprotein particle clearance|reverse cholesterol transport	extracellular space	heparin binding|lipoprotein lipase activity|phospholipase A1 activity|protein binding|triglyceride lipase activity	g.chr18:47110059C>T	AF118767	CCDS11938.1	18q21.1	2006-04-22				ENSG00000101670			6623	protein-coding gene	gene with protein product		603684				10318835, 10192396	Standard	XM_005258390		Approved	EDL	uc002ldv.3	Q9Y5X9		ENST00000261292.4:c.1291C>T	18.37:g.47110059C>T	ENSP00000261292:p.Arg431Cys					LIPG_ENST00000427224.2_Missense_Mutation_p.R357C	p.R431C	NM_006033.2	NP_006024.1	Q9Y5X9	LIPE_HUMAN			8	1569	+			431			PLAT.		B0LPG6|Q6P9C8|Q6UW82	Missense_Mutation	SNP	ENST00000261292.4	37	c.1291C>T	CCDS11938.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.952882	0.73787	.	.	ENSG00000101670	ENST00000261292;ENST00000427224	D;D	0.86865	-2.18;-1.68	5.38	5.38	0.77491	Lipoxygenase, LH2 (3);Lipase/lipooxygenase, PLAT/LH2 (1);	0.214441	0.47852	D	0.000208	D	0.91801	0.7406	M	0.63428	1.95	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.72075	0.976;0.939	D	0.92264	0.5819	10	0.72032	D	0.01	-20.9923	13.9451	0.64080	0.1897:0.8103:0.0:0.0	.	357;431	B4DTR8;Q9Y5X9	.;LIPE_HUMAN	C	431;357	ENSP00000261292:R431C;ENSP00000387978:R357C	ENSP00000261292:R431C	R	+	1	0	LIPG	45364057	0.003000	0.15002	0.996000	0.52242	0.961000	0.63080	1.340000	0.33896	2.530000	0.85305	0.561000	0.74099	CGC		0.592	LIPG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447546.1	NM_006033		9	45	0	0	0	0.361761	0	9	45					T	47110059	C	T	47110059	3	4	219	1	0	0	0	0	1	0	0	0	8823	884	31	2	1321	2	LIPG	18	47110059	Missense_Mutation	SNP	C	TCGA-HC-7749-01A-11D-2114-08	25101227	47110059	30967189	59	10138											
ZNF317	57693	broad.mit.edu	37	chr19	9271565	9271565	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	catgaggattcacatcgtcaAgaaacccgtggaatgtcggc	12	8	11	10	3	2	2	2	1	0	1	4	4	2	4	1	3	1	0	1	3	3	1			TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chr19:9271565A>G	ENST00000247956.6	+	7	1549	c.1244A>G	c.(1243-1245)aAg>aGg	p.K415R	ZNF317_ENST00000360385.3_Missense_Mutation_p.K383R	NM_020933.4	NP_065984.3	Q96PQ6	ZN317_HUMAN	zinc finger protein 317	415					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3)	27						CACATCGTCAAGAAACCCGTG	0.502																																						ENST00000247956.6																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3)	27						c.(1243-1245)aAg>aGg		zinc finger protein 317							77	78	78					19																	9271565		2203	4300	6503	SO:0001583	missense	57693				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:9271565A>G	AF275255	CCDS12210.1, CCDS54213.1	19p13	2013-01-08				ENSG00000130803		"Zinc fingers, C2H2-type", "-"	13507	protein-coding gene	gene with protein product		613864				10997877, 11688974	Standard	NM_020933		Approved		uc002mku.3	Q96PQ6		ENST00000247956.6:c.1244A>G	19.37:g.9271565A>G	ENSP00000247956:p.Lys415Arg					ZNF317_ENST00000360385.3_Missense_Mutation_p.K383R	p.K415R	NM_020933.4	NP_065984.3	Q96PQ6	ZN317_HUMAN			7	1549	+			415					Q6DCA9|Q96PM0|Q96PM1|Q96PT2|Q9HCI4	Missense_Mutation	SNP	ENST00000247956.6	37	c.1244A>G	CCDS12210.1	.	.	.	.	.	.	.	.	.	.	A	12.82	2.053851	0.36277	.	.	ENSG00000130803	ENST00000247956;ENST00000360385	T;T	0.20463	2.07;2.07	2.92	2.92	0.33932	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.44483	D	0.000444	T	0.16769	0.0403	L	0.31157	0.91	0.32371	N	0.55587	P;B	0.50528	0.936;0.057	P;B	0.44477	0.451;0.032	T	0.17899	-1.0354	10	0.87932	D	0	-32.619	9.5634	0.39383	1.0:0.0:0.0:0.0	.	383;415	Q96PQ6-2;Q96PQ6	.;ZN317_HUMAN	R	415;383	ENSP00000247956:K415R;ENSP00000353554:K383R	ENSP00000247956:K415R	K	+	2	0	ZNF317	9132565	1.000000	0.71417	0.548000	0.28192	0.662000	0.39071	4.559000	0.60796	1.592000	0.50018	0.402000	0.26972	AAG		0.502	ZNF317-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000448995.1	NM_020933		24	42	0	0	0	0.729181	0	24	42					G	9271565	A	G	9271565	3	3	219	1	0	0	0	0	1	0	0	0	17832	72	3	4	1266	4	ZNF317	19	9271565	Missense_Mutation	SNP	A	TCGA-HC-7749-01A-11D-2114-08		9271565	49857418	60	10139											
MAST1	22983	broad.mit.edu	37	chr19	12978320	12978320	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atggagcagctgtcgcagcaCgagcccaagaccccagtagc	11	4	12	14	2	0	1	0	0	0	1	1	3	0	2	3	1	5	5	3	1	2	1			TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chr19:12978320C>T	ENST00000251472.4	+	19	2211	c.2172C>T	c.(2170-2172)caC>caT	p.H724H		NM_014975.2	NP_055790.1			microtubule associated serine/threonine kinase 1											NS(1)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(20)|ovary(5)|prostate(5)|skin(3)	56						TGTCGCAGCACGAGCCCAAGA	0.652																																						ENST00000251472.4																			0				NS(1)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(20)|ovary(5)|prostate(5)|skin(3)	56						c.(2170-2172)caC>caT		microtubule associated serine/threonine kinase 1							53	61	59					19																	12978320		2202	4300	6502	SO:0001819	synonymous_variant	22983				cytoskeleton organization|intracellular protein kinase cascade	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr19:12978320C>T	AB023190	CCDS32921.1	19p13.2	2008-02-05				ENSG00000105613			19034	protein-coding gene	gene with protein product		612256					Standard	NM_014975		Approved	SAST, KIAA0973	uc002mvm.3	Q9Y2H9		ENST00000251472.4:c.2172C>T	19.37:g.12978320C>T							p.H724H	NM_014975.2	NP_055790.1	Q9Y2H9	MAST1_HUMAN			19	2211	+			724						Silent	SNP	ENST00000251472.4	37	c.2172C>T	CCDS32921.1																																																																																				0.652	MAST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451733.2	NM_014975		5	126	0	0	0	0.217242	0	5	126					T	12978320	C	T	12978320	2	4	219	1	0	0	0	0	0	0	0	1	9324	535	19	1		1	MAST1	19	12978320	Silent	SNP	C	TCGA-HC-7749-01A-11D-2114-08	3706755	12978320	46150663	61	10140											
IFI30	10437	broad.mit.edu	37	chr19	18285887	18285887	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gcgggggcccctgaagaagtCcaatgcaccgcttgtcaatg	9	7	13	12	2	1	2	1	1	0	1	2	2	2	2	4	2	1	2	4	2	4	1			TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chr19:18285887C>A	ENST00000407280.3	+	2	345	c.170C>A	c.(169-171)tCc>tAc	p.S57Y	PIK3R2_ENST00000593731.1_3'UTR	NM_006332.3	NP_006323.2	P13284	GILT_HUMAN	interferon, gamma-inducible protein 30	57					antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of fibroblast proliferation (GO:0048147)|protein stabilization (GO:0050821)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)|plasma membrane (GO:0005886)	oxidoreductase activity, acting on a sulfur group of donors (GO:0016667)			endometrium(1)|kidney(2)|large_intestine(1)|stomach(1)	5						CTGAAGAAGTCCAATGCACCG	0.582																																						ENST00000407280.2																			0				endometrium(1)|kidney(2)|large_intestine(1)|stomach(1)	5						c.(169-171)tCc>tAc		interferon, gamma-inducible protein 30							59	60	60					19																	18285887		1954	4133	6087	SO:0001583	missense	10437				antigen processing and presentation of exogenous peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway	cell junction|extracellular region|lysosome	oxidoreductase activity, acting on a sulfur group of donors	g.chr19:18285887C>A	J03909	CCDS46015.1	19p13.1	2008-07-16				ENSG00000216490			5398	protein-coding gene	gene with protein product	"gamma-interferon-inducible lysosomal thiol reductase", "interferon gamma-inducible protein 30 preproprotein"	604664				3136170, 10639150	Standard	NM_006332		Approved	IFI-30, GILT, IP30, MGC32056	uc002nic.1	P13284		ENST00000407280.3:c.170C>A	19.37:g.18285887C>A	ENSP00000384886:p.Ser57Tyr					PIK3R2_ENST00000593731.1_3'UTR	p.S57Y	NM_006332.3	NP_006323.2	P13284	GILT_HUMAN			2	238	+			57					Q76MF9|Q8NEI4|Q8WU77|Q9UL08	Missense_Mutation	SNP	ENST00000407280.3	37	c.170C>A	CCDS46015.1	.	.	.	.	.	.	.	.	.	.	C	15.78	2.935869	0.52972	.	.	ENSG00000216490	ENST00000407280	.	.	.	4.22	2.01	0.26516	.	.	.	.	.	T	0.43166	0.1235	L	0.55213	1.73	0.09310	N	1	D	0.56968	0.978	P	0.52267	0.694	T	0.28170	-1.0052	8	0.10377	T	0.69	-41.9989	9.633	0.39791	0.0:0.8211:0.0:0.1789	.	57	P13284	GILT_HUMAN	Y	57	.	ENSP00000384886:S57Y	S	+	2	0	IFI30	18146887	0.406000	0.25344	0.003000	0.11579	0.006000	0.05464	2.129000	0.42055	0.519000	0.28406	0.491000	0.48974	TCC		0.582	IFI30-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466396.3	NM_006332		13	31	1	0	0.00185496	0.435327	0.00195801	13	31					A	18285887	C	A	18285887	3	1	219	1	0	0	0	0	1	0	0	0	7515	855	30	5	176	5	IFI30	19	18285887	Missense_Mutation	SNP	C	TCGA-HC-7749-01A-11D-2114-08	5307567	18285887	40843096	62	10141											
ZNF208	7757	broad.mit.edu	37	chr19	22155036	22155036	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agcatgagttttcttatgttTactaaagactgacaaccagc	13	13	7	8	0	1	3	0	2	1	1	1	3	1	3	1	0	4	3	1	0	5	6			TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chr19:22155036T>C	ENST00000397126.4	-	4	2948	c.2800A>G	c.(2800-2802)Aaa>Gaa	p.K934E	ZNF208_ENST00000599916.1_Intron|ZNF208_ENST00000601773.1_Intron	NM_007153.3	NP_009084.2	O43345	ZN208_HUMAN	zinc finger protein 208	934					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				TTCTTATGTTTACTAAAGACT	0.378																																						ENST00000397126.4																			0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113						c.(2800-2802)Aaa>Gaa		zinc finger protein 208							48	51	50					19																	22155036		2033	4198	6231	SO:0001583	missense	7757							g.chr19:22155036T>C	BC038199	CCDS54240.1	19p12	2013-01-08				ENSG00000160321		"Zinc fingers, C2H2-type", "-"	12999	protein-coding gene	gene with protein product	"zinc finger protein 95"	603977				9724325	Standard	NM_007153		Approved	PMIDP, ZNF95	uc021urr.1	O43345		ENST00000397126.4:c.2800A>G	19.37:g.22155036T>C	ENSP00000380315:p.Lys934Glu					ZNF208_ENST00000601773.1_Intron|ZNF208_ENST00000599916.1_Intron	p.K934E	NM_007153.3	NP_009084.2					4	2948	-		all_lung(12;0.0961)|Lung NSC(12;0.103)							Missense_Mutation	SNP	ENST00000397126.4	37	c.2800A>G	CCDS54240.1	.	.	.	.	.	.	.	.	.	.	T	0.012	-1.690528	0.00738	.	.	ENSG00000160321	ENST00000397126;ENST00000428290	T	0.06687	3.27	2.9	-5.81	0.02340	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.02533	0.0077	.	.	.	0.09310	N	1	B	0.32543	0.375	B	0.37650	0.255	T	0.35425	-0.9789	8	0.02654	T	1	.	0.7525	0.00992	0.1651:0.2927:0.2464:0.2958	.	834	O43345	ZN208_HUMAN	E	934;834	ENSP00000380315:K934E	ENSP00000380315:K934E	K	-	1	0	ZNF208	21946876	0.000000	0.05858	0.000000	0.03702	0.019000	0.09904	-2.493000	0.00972	-1.257000	0.02475	0.240000	0.17902	AAA		0.378	ZNF208-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464302.1	NM_007153		6	38	0	0	0	0.217242	0	6	38					C	22155036	T	C	22155036	3	2	219	1	0	0	0	0	1	0	0	0	17763	1763	61	4	1046	4	ZNF208	19	22155036	Missense_Mutation	SNP	T	TCGA-HC-7749-01A-11D-2114-08	3869149	22155036	36973947	63	10142											
TRIM28	10155	broad.mit.edu	37	chr19	59059687	59059687	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttccagctgcaccgggccctCaagatgattgtggatcccgt	7	10	11	13	2	1	2	1	1	0	1	3	3	3	3	4	2	2	2	4	2	1	2			TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chr19:59059687C>G	ENST00000253024.5	+	8	1417	c.1128C>G	c.(1126-1128)ctC>ctG	p.L376L	TRIM28_ENST00000341753.6_Silent_p.L294L	NM_005762.2	NP_005753.1	Q13263	TIF1B_HUMAN	tripartite motif containing 28	376	Interaction with MAGEC2.|Leucine zipper alpha helical coiled-coil region.|RBCC domain.				convergent extension involved in axis elongation (GO:0060028)|DNA repair (GO:0006281)|embryonic placenta morphogenesis (GO:0060669)|epithelial to mesenchymal transition (GO:0001837)|gene expression (GO:0010467)|innate immune response (GO:0045087)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of viral release from host cell (GO:1902187)|positive regulation of DNA repair (GO:0045739)|positive regulation of transcription factor import into nucleus (GO:0042993)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autophosphorylation (GO:0046777)|protein oligomerization (GO:0051259)|protein sumoylation (GO:0016925)|protein ubiquitination (GO:0016567)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nuclear euchromatin (GO:0005719)|nuclear heterochromatin (GO:0005720)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|Krueppel-associated box domain binding (GO:0035851)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			biliary_tract(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|urinary_tract(1)	19		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.0434)|all cancers(4;1.39e-13)|Epithelial(4;1.01e-10)|OV - Ovarian serous cystadenocarcinoma(4;2.34e-09)|GBM - Glioblastoma multiforme(193;0.0102)|Lung(386;0.179)		ACCGGGCCCTCAAGATGATTG	0.542																																						ENST00000253024.5																			0				biliary_tract(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|urinary_tract(1)	19						c.(1126-1128)ctC>ctG		tripartite motif containing 28							71	71	71					19																	59059687		2203	4300	6503	SO:0001819	synonymous_variant	10155				epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent	nucleoplasm	chromo shadow domain binding|ligase activity|transcription corepressor activity|zinc ion binding	g.chr19:59059687C>G		CCDS12985.1	19q13.4	2014-06-13	2011-01-25			ENSG00000130726		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers", "Zinc fingers, PHD-type"	16384	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 157"	601742	"tripartite motif-containing 28"			11331580, 11226167	Standard	NM_005762		Approved	TIF1B, KAP1, TF1B, RNF96, PPP1R157	uc002qtg.1	Q13263		ENST00000253024.5:c.1128C>G	19.37:g.59059687C>G						TRIM28_ENST00000341753.6_Silent_p.L294L	p.L376L	NM_005762.2	NP_005753.1	Q13263	TIF1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.0434)|all cancers(4;1.39e-13)|Epithelial(4;1.01e-10)|OV - Ovarian serous cystadenocarcinoma(4;2.34e-09)|GBM - Glioblastoma multiforme(193;0.0102)|Lung(386;0.179)	8	1417	+		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)	376			Leucine zipper alpha helical coiled-coil region.|RBCC domain.		O00677|Q7Z632|Q93040|Q96IM1	Silent	SNP	ENST00000253024.5	37	c.1128C>G	CCDS12985.1																																																																																				0.542	TRIM28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467074.1	NM_005762		3	88	0	0	0	0.184627	0	3	88					G	59059687	C	G	59059687	2	3	219	1	0	0	0	0	0	0	0	1	16499	813	29	5		5	TRIM28	19	59059687	Silent	SNP	C	TCGA-HC-7749-01A-11D-2114-08	36904651	59059687	69296	64	10143											
TMEM90B	79953	broad.mit.edu	37	chr20	24524045	24524045	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgctgcgctcctggggggaCggtgtggccgccgactgctg	2	8	19	12	4	0	0	0	0	0	0	1	2	1	1	3	5	3	3	3	5	0	0	rs554961572	byFrequency	TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chr20:24524045C>T	ENST00000376862.3	+	2	945	c.312C>T	c.(310-312)gaC>gaT	p.D104D		NM_024893.1	NP_079169.1	Q9H7V2	SYNG1_HUMAN	synapse differentiation inducing 1	104					intracellular protein transport (GO:0006886)|positive regulation of synapse assembly (GO:0051965)|response to biotic stimulus (GO:0009607)|synaptic vesicle clustering (GO:0097091)	cell body (GO:0044297)|cell junction (GO:0030054)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|early endosome membrane (GO:0031901)|excitatory synapse (GO:0060076)|integral component of plasma membrane (GO:0005887)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	glutamate receptor binding (GO:0035254)|protein homodimerization activity (GO:0042803)			breast(2)|endometrium(1)|large_intestine(3)|lung(14)|prostate(1)|skin(3)	24						CCTGGGGGGACGGTGTGGCCG	0.632													C|||	3	0.000599042	0	0	5008	,	,		16690	0		0	False		,,,				2504	0.0031					ENST00000376862.3																			0				breast(2)|endometrium(1)|large_intestine(3)|lung(14)|prostate(1)|skin(3)	24						c.(310-312)gaC>gaT		synapse differentiation inducing 1							62	62	62					20																	24524045		2203	4300	6503	SO:0001819	synonymous_variant	79953				response to biotic stimulus	early endosome membrane|integral to membrane|plasma membrane		g.chr20:24524045C>T	AK024282	CCDS13164.1	20p11.21	2011-06-30	2011-06-30	2011-06-30	ENSG00000101463	ENSG00000101463			15885	protein-coding gene	gene with protein product	"interferon induced transmembrane protein domain containing 5", "synapse differentiation induced gene 1"	614311	"chromosome 20 open reading frame 39", "transmembrane protein 90B"	C20orf39, TMEM90B		20152115	Standard	NM_024893		Approved	FLJ14220, IFITMD5, SynDIG1	uc002wtw.1	Q9H7V2	OTTHUMG00000032104	ENST00000376862.3:c.312C>T	20.37:g.24524045C>T							p.D104D	NM_024893.1	NP_079169.1	Q9H7V2	SYNG1_HUMAN			2	945	+			104					Q6IA30|Q9H514	Silent	SNP	ENST00000376862.3	37	c.312C>T	CCDS13164.1																																																																																				0.632	SYNDIG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078376.1	NM_024893		4	140	0	0	0	0.248553	0	4	140					T	24524045	C	T	24524045	2	4	219	1	0	0	0	0	0	0	0	1	16216	535	19	1		1	TMEM90B	20	24524045	Silent	SNP	C	TCGA-HC-7749-01A-11D-2114-08		24524045	38501475	65	10144											
C20orf185	359710	broad.mit.edu	37	chr20	31643347	31643347	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggattgacaaggatgaactcGgcaaaggtgagccccaggtg	12	6	15	8	1	0	3	0	3	0	0	1	5	0	5	2	5	2	1	2	5	3	1			TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chr20:31643347G>A	ENST00000375494.3	+	1	118	c.118G>A	c.(118-120)Ggc>Agc	p.G40S	AL121756.1_ENST00000579962.1_RNA	NM_182658.1	NP_872599.1	P59826	BPIB3_HUMAN	BPI fold containing family B, member 3	40	Leu-rich.				innate immune response (GO:0045087)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)	lipid binding (GO:0008289)										GGATGAACTCGGCAAAGGTGA	0.577																																						ENST00000375494.3																			0											c.(118-120)Ggc>Agc		BPI fold containing family B, member 3							76	72	73					20																	31643347		2203	4300	6503	SO:0001583	missense	359710				innate immune response	cytoplasm|extracellular region	lipid binding|protein binding	g.chr20:31643347G>A	AF549189	CCDS13212.1	20q11.21	2011-08-04	2011-07-29	2011-07-29	ENSG00000186190	ENSG00000186190		"BPI fold containing"	16178	protein-coding gene	gene with protein product		615717	"chromosome 20 open reading frame 185"	C20orf185		11971875, 21787333	Standard	NM_182658		Approved	dJ726C3.4, LPLUNC3, RYA3	uc002wym.1	P59826	OTTHUMG00000032234	ENST00000375494.3:c.118G>A	20.37:g.31643347G>A	ENSP00000364643:p.Gly40Ser						p.G40S	NM_182658.1	NP_872599.1	P59826	LPLC3_HUMAN			1	118	+			40			Leu-rich.		Q5TDX7	Missense_Mutation	SNP	ENST00000375494.3	37	c.118G>A	CCDS13212.1	.	.	.	.	.	.	.	.	.	.	G	7.659	0.684494	0.14973	.	.	ENSG00000186190	ENST00000375494	T	0.05258	3.47	4.69	1.72	0.24424	.	0.392015	0.21683	N	0.070682	T	0.02888	0.0086	N	0.15975	0.35	0.24075	N	0.995962	B	0.06786	0.001	B	0.06405	0.002	T	0.47573	-0.9107	10	0.06365	T	0.9	-8.4809	6.67	0.23064	0.2955:0.0:0.7045:0.0	.	40	P59826	BPIB3_HUMAN	S	40	ENSP00000364643:G40S	ENSP00000364643:G40S	G	+	1	0	BPIFB3	31107008	0.870000	0.30015	0.606000	0.28943	0.842000	0.47809	0.795000	0.26972	0.232000	0.21100	-0.126000	0.14955	GGC		0.577	BPIFB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078654.2	NM_182658		20	55	0	0	0	0.667858	0	20	55					A	31643347	G	A	31643347	3	1	219	1	0	0	0	0	1	0	0	0	2097	1116	39	2	120	2	C20orf185	20	31643347	Missense_Mutation	SNP	G	TCGA-HC-7749-01A-11D-2114-08	7119302	31643347	31382173	66	10145											
KRTAP6-2	337967	broad.mit.edu	37	chr21	31971188	31971188	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tagtttccgtagtagctgccGcacatcgtgatggttgtgga	7	13	13	8	3	0	1	0	1	0	0	2	2	1	2	2	2	2	6	2	2	3	5	rs201729927		TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chr21:31971188G>C	ENST00000334897.3	-	1	31	c.6C>G	c.(4-6)tgC>tgG	p.C2W	KRTAP22-1_ENST00000334680.2_5'Flank	NM_181604.1	NP_853635.1	Q3LI66	KRA62_HUMAN	keratin associated protein 6-2	2						intermediate filament (GO:0005882)		p.C2C(2)		endometrium(2)|kidney(1)|large_intestine(4)|lung(4)	11						AGTAGCTGCCGCACATCGTGA	0.512																																						ENST00000334897.3																			2	Substitution - coding silent(2)	p.C2C(2)	kidney(1)|endometrium(1)	endometrium(2)|kidney(1)|large_intestine(4)|lung(4)	11						c.(4-6)tgC>tgG		keratin associated protein 6-2							191	158	169					21																	31971188		2203	4300	6503	SO:0001583	missense	337967					intermediate filament		g.chr21:31971188G>C	AP001708	CCDS13600.1	21q22.1	2011-02-10			ENSG00000186930	ENSG00000186930		"Keratin associated proteins"	18932	protein-coding gene	gene with protein product						12359730	Standard	NM_181604		Approved	KAP6.2	uc011adc.2	Q3LI66	OTTHUMG00000057794	ENST00000334897.3:c.6C>G	21.37:g.31971188G>C	ENSP00000334560:p.Cys2Trp						p.C2W	NM_181604.1	NP_853635.1	Q3LI66	KRA62_HUMAN			1	31	-			2						Missense_Mutation	SNP	ENST00000334897.3	37	c.6C>G	CCDS13600.1	.	.	.	.	.	.	.	.	.	.	A	8.003	0.755745	0.15846	.	.	ENSG00000186930	ENST00000334897	T	0.12147	2.71	4.47	3.32	0.38043	.	0.465497	0.16236	U	0.223363	T	0.32615	0.0835	.	.	.	0.41923	D	0.990527	D	0.89917	1.0	D	0.80764	0.994	T	0.02661	-1.1127	9	0.87932	D	0	.	6.3106	0.21163	0.8047:0.0:0.1953:0.0	.	2	Q3LI66	KRA62_HUMAN	W	2	ENSP00000334560:C2W	ENSP00000334560:C2W	C	-	3	2	KRTAP6-2	30893059	1.000000	0.71417	1.000000	0.80357	0.741000	0.42261	1.197000	0.32211	0.484000	0.27630	-0.269000	0.10298	TGC		0.512	KRTAP6-2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128246.3			11	82	0	0	0	0.479597	0	11	82					C	31971188	G	C	31971188	3	2	219	1	0	0	0	0	1	0	0	0	8570	1079	38	5	185	5	KRTAP6-2	21	31971188	Missense_Mutation	SNP	G	TCGA-HC-7749-01A-11D-2114-08		31971188	16158707	67	10146											
TIAM1	7074	broad.mit.edu	37	chr21	32639279	32639279	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctctacatgttgactttctgCgtttcccatggttttatggt	5	19	8	9	1	2	1	0	1	2	0	3	1	3	1	1	2	2	3	1	2	2	6	rs371730791	byFrequency	TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chr21:32639279C>T	ENST00000286827.3	-	5	481	c.10G>A	c.(10-12)Gca>Aca	p.A4T	TIAM1_ENST00000469412.1_Intron|TIAM1_ENST00000541036.1_Missense_Mutation_p.A4T	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	4					apoptotic signaling pathway (GO:0097190)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|ephrin receptor signaling pathway (GO:0048013)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axonogenesis (GO:0050772)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|Rac protein signal transduction (GO:0016601)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell-cell contact zone (GO:0044291)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)	phospholipid binding (GO:0005543)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|receptor signaling protein activity (GO:0005057)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						TGACTTTCTGCGTTTCCCATG	0.527													C|||	2	0.000399361	0	0	5008	,	,		21510	0		0	False		,,,				2504	0.002					ENST00000286827.3																			0				autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						c.(10-12)Gca>Aca		T-cell lymphoma invasion and metastasis 1		C	THR/ALA	0,4406		0,0,2203	52	54	53		10	2.9	1	21		53	1,8599	1.2+/-3.3	0,1,4299	no	missense	TIAM1	NM_003253.2	58	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging	4/1592	32639279	1,13005	2203	4300	6503	SO:0001583	missense	7074				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cell-cell junction|cytosol	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity	g.chr21:32639279C>T		CCDS13609.1	21q22.1	2013-01-10			ENSG00000156299	ENSG00000156299		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	11805	protein-coding gene	gene with protein product		600687				8595894, 15340013	Standard	NM_003253		Approved		uc002yow.1	Q13009	OTTHUMG00000084869	ENST00000286827.3:c.10G>A	21.37:g.32639279C>T	ENSP00000286827:p.Ala4Thr					TIAM1_ENST00000541036.1_Missense_Mutation_p.A4T|TIAM1_ENST00000469412.1_Intron	p.A4T	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN			5	481	-			4					B7ZLR6|F5GZ53|Q17RT7	Missense_Mutation	SNP	ENST00000286827.3	37	c.10G>A	CCDS13609.1	.	.	.	.	.	.	.	.	.	.	C	13.99	2.400583	0.42613	0.0	1.16E-4	ENSG00000156299	ENST00000286827;ENST00000541036;ENST00000455508	T;T	0.49139	0.82;0.79	5.08	2.88	0.33553	.	0.180432	0.48286	N	0.000186	T	0.32436	0.0829	N	0.19112	0.55	0.49213	D	0.999767	B;B;B	0.19331	0.035;0.021;0.021	B;B;B	0.11329	0.006;0.002;0.002	T	0.22906	-1.0203	10	0.72032	D	0.01	.	12.2995	0.54866	0.0:0.8353:0.0:0.1647	.	4;4;4	F5GZ53;B7ZLR6;Q13009	.;.;TIAM1_HUMAN	T	4	ENSP00000286827:A4T;ENSP00000441570:A4T	ENSP00000286827:A4T	A	-	1	0	TIAM1	31561150	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.601000	0.54059	1.130000	0.42092	0.460000	0.39030	GCA		0.527	TIAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000192552.1	NM_003253		19	49	0	0	0	0.639603	0	19	49					T	32639279	C	T	32639279	3	4	219	1	0	0	0	0	1	0	0	0	15887	768	27	1	4865	1	TIAM1	21	32639279	Missense_Mutation	SNP	C	TCGA-HC-7749-01A-11D-2114-08	668091	32639279	15490616	68	10147											
DNMT3L	29947	broad.mit.edu	37	chr21	45679320	45679320	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gggcaggcccctcgcctcacCgggtgcaatcagggtttccg	5	7	14	15	3	2	0	2	0	0	0	4	0	3	0	5	4	1	3	5	4	1	1			TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chr21:45679320C>T	ENST00000418993.1	-	5	827	c.344G>A	c.(343-345)cGa>cAa	p.R115Q	DNMT3L_ENST00000270172.3_Splice_Site_p.R115Q	NM_175867.2	NP_787063.1	Q9UJW3	DNM3L_HUMAN	DNA (cytosine-5-)-methyltransferase 3-like	115	ADD. {ECO:0000255|PROSITE- ProRule:PRU00865}.				chorionic trophoblast cell differentiation (GO:0060718)|DNA methylation (GO:0006306)|in utero embryonic development (GO:0001701)|negative regulation of transcription, DNA-templated (GO:0045892)|placenta development (GO:0001890)|positive regulation of catalytic activity (GO:0043085)|regulation of gene expression by genetic imprinting (GO:0006349)|spermatogenesis (GO:0007283)	condensed nuclear chromosome (GO:0000794)|cytosol (GO:0005829)|nuclear heterochromatin (GO:0005720)|nucleus (GO:0005634)	enzyme activator activity (GO:0008047)|enzyme binding (GO:0019899)|metal ion binding (GO:0046872)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(3)	11				Colorectal(79;0.0165)|READ - Rectum adenocarcinoma(84;0.0781)		CTCGCCTCACCGGGTGCAATC	0.587																																						ENST00000270172.3																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(3)	11						c.e5+1		DNA (cytosine-5-)-methyltransferase 3-like							70	70	70					21																	45679320		2203	4300	6503	SO:0001630	splice_region_variant	29947				DNA methylation|negative regulation of transcription, DNA-dependent|regulation of gene expression by genetic imprinting|spermatogenesis	cytosol	enzyme activator activity|enzyme binding|metal ion binding	g.chr21:45679320C>T	AF194032	CCDS13705.1	21q22.3	2008-07-31			ENSG00000142182	ENSG00000142182			2980	protein-coding gene	gene with protein product	"cytosine-5-methyltransferase 3-like protein", "human cytosine-5-methyltransferase 3-like protein"	606588				10857753	Standard	NM_013369		Approved	MGC1090	uc002zeh.2	Q9UJW3	OTTHUMG00000086914	ENST00000418993.1:c.344+1G>A	21.37:g.45679320C>T						DNMT3L_ENST00000418993.1_Splice_Site_p.R115_splice	p.R115_splice	NM_013369.3	NP_037501.2	Q9UJW3	DNM3L_HUMAN		Colorectal(79;0.0165)|READ - Rectum adenocarcinoma(84;0.0781)	5	827	-			115			ADD.		E9PB42|Q9BUJ4	Splice_Site	SNP	ENST00000418993.1	37	c.344_splice	CCDS46650.1	.	.	.	.	.	.	.	.	.	.	C	28.8	4.954605	0.92726	.	.	ENSG00000142182	ENST00000270172;ENST00000418993;ENST00000431166	T;T;T	0.76578	-1.03;-1.03;-1.03	4.26	4.26	0.50523	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, FYVE/PHD-type (1);	0.000000	0.85682	D	0.000000	D	0.87501	0.6193	M	0.83483	2.645	0.51233	D	0.999916	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	D	0.88255	0.2919	9	.	.	.	-13.514	12.3566	0.55178	0.0:1.0:0.0:0.0	.	115;115	Q9UJW3-2;Q9UJW3	.;DNM3L_HUMAN	Q	115;115;100	ENSP00000270172:R115Q;ENSP00000412862:R115Q;ENSP00000400242:R100Q	.	R	-	2	0	DNMT3L	44503748	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	5.828000	0.69307	2.364000	0.80123	0.585000	0.79938	CGA		0.587	DNMT3L-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000195820.1	NM_013369	Missense_Mutation	18	63	0	0	0	0.592651	0	18	63					T	45679320	C	T	45679320	5	4	219	1	0	0	0	0	0	0	1	0	4678	666	23	2	851	2	DNMT3L	21	45679320	Splice_Site	SNP	C	TCGA-HC-7749-01A-11D-2114-08	13040041	45679320	2450575	69	10148											
NCF4	4689	broad.mit.edu	37	chr22	37271705	37271705	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcctctgcagggcactgtccGgggagccacgggcatcttcc	5	8	13	15	2	2	0	0	0	2	0	5	1	5	1	4	4	2	3	4	4	0	1	rs376569226		TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chr22:37271705G>A	ENST00000248899.6	+	8	822	c.638G>A	c.(637-639)cGg>cAg	p.R213Q	NCF4_ENST00000397147.4_Missense_Mutation_p.R213Q	NM_000631.4	NP_000622.2	Q15080	NCF4_HUMAN	neutrophil cytosolic factor 4, 40kDa	213	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|immune response (GO:0006955)|interaction with host (GO:0051701)|oxidation-reduction process (GO:0055114)|phagosome maturation (GO:0090382)|positive regulation of catalytic activity (GO:0043085)	cytosol (GO:0005829)|endosome membrane (GO:0010008)|membrane (GO:0016020)|NADPH oxidase complex (GO:0043020)|phagolysosome (GO:0032010)	phosphatidylinositol-3-phosphate binding (GO:0032266)|protein dimerization activity (GO:0046983)|superoxide-generating NADPH oxidase activator activity (GO:0016176)			cervix(1)|endometrium(4)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	16					Dextromethorphan(DB00514)	GGCACTGTCCGGGGAGCCACG	0.602																																						ENST00000397147.4																			0				cervix(1)|endometrium(4)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	16						c.(637-639)cGg>cAg		neutrophil cytosolic factor 4, 40kDa		G	GLN/ARG,GLN/ARG	0,4406		0,0,2203	53	49	50		638,638	-0.1	0.7	22		50	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	NCF4	NM_000631.4,NM_013416.3	43,43	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign,benign	213/340,213/349	37271705	1,13005	2203	4300	6503	SO:0001583	missense	4689				cell communication|immune response|oxidation-reduction process	cytosol|NADPH oxidase complex	phosphatidylinositol binding|protein dimerization activity	g.chr22:37271705G>A	X77094	CCDS13934.1, CCDS13935.1	22q13.1	2014-09-17	2002-08-29		ENSG00000100365	ENSG00000100365			7662	protein-coding gene	gene with protein product	"neutrophil NADPH oxidase factor 4"	601488	"neutrophil cytosolic factor 4 (40kD)"			8839867	Standard	NM_013416		Approved	p40phox, SH3PXD4	uc003apy.4	Q15080	OTTHUMG00000150548	ENST00000248899.6:c.638G>A	22.37:g.37271705G>A	ENSP00000248899:p.Arg213Gln					NCF4_ENST00000248899.6_Missense_Mutation_p.R213Q	p.R213Q	NM_013416.3	NP_038202.2	Q15080	NCF4_HUMAN			8	822	+			213			SH3.		A8K4F9|O60808|Q86U56|Q9BU98|Q9NP45	Missense_Mutation	SNP	ENST00000248899.6	37	c.638G>A	CCDS13934.1	.	.	.	.	.	.	.	.	.	.	G	13.73	2.325191	0.41197	0.0	1.16E-4	ENSG00000100365	ENST00000447071;ENST00000248899;ENST00000397147	T;T;T	0.30182	1.54;1.54;1.54	4.45	-0.116	0.13555	Src homology-3 domain (4);	0.863409	0.10416	N	0.677245	T	0.17492	0.0420	L	0.31664	0.95	0.09310	N	1	B;B	0.29936	0.262;0.006	B;B	0.22753	0.041;0.019	T	0.21586	-1.0241	10	0.26408	T	0.33	-11.9775	6.2058	0.20602	0.681:0.0:0.319:0.0	.	213;213	A8K4F9;Q15080	.;NCF4_HUMAN	Q	110;213;213	ENSP00000414958:R110Q;ENSP00000248899:R213Q;ENSP00000380334:R213Q	ENSP00000248899:R213Q	R	+	2	0	NCF4	35601651	0.049000	0.20398	0.726000	0.30738	0.975000	0.68041	0.648000	0.24828	0.236000	0.21180	0.650000	0.86243	CGG		0.602	NCF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318863.1	NM_000631		5	89	0	0	0	0.248553	0	5	89					A	37271705	G	A	37271705	3	1	219	1	0	0	0	0	1	0	0	0	10218	1116	39	2	668	2	NCF4	22	37271705	Missense_Mutation	SNP	G	TCGA-HC-7749-01A-11D-2114-08		37271705	14032861	70	10149											
FAM47C	442444	broad.mit.edu	37	chrX	37028425	37028425	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtctccgcccggagcctcccAatactggagtgtcccatctc	6	9	9	17	2	2	0	0	0	2	0	6	2	4	2	5	2	2	0	5	2	2	1	rs145580328		TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chrX:37028425A>G	ENST00000358047.3	+	1	1994	c.1942A>G	c.(1942-1944)Aat>Gat	p.N648D		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	648								p.N648D(7)		breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						GGAGCCTCCCAATACTGGAGT	0.642																																						ENST00000358047.3																			7	Substitution - Missense(7)	p.N648D(7)	urinary_tract(2)|prostate(2)|lung(2)|skin(1)	breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						c.(1942-1944)Aat>Gat		family with sequence similarity 47, member C							51	56	55					X																	37028425		2201	4299	6500	SO:0001583	missense	442444							g.chrX:37028425A>G	AK125992	CCDS35227.1	Xp21.1	2006-07-04			ENSG00000198173	ENSG00000198173			25301	protein-coding gene	gene with protein product							Standard	NM_001013736		Approved		uc004ddl.2	Q5HY64	OTTHUMG00000024025	ENST00000358047.3:c.1942A>G	X.37:g.37028425A>G	ENSP00000367913:p.Asn648Asp						p.N648D	NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN			1	1994	+			648					Q6ZU46	Missense_Mutation	SNP	ENST00000358047.3	37	c.1942A>G	CCDS35227.1	.	.	.	.	.	.	.	.	.	.	-	3.343	-0.134139	0.06711	.	.	ENSG00000198173	ENST00000358047	T	0.13196	2.61	1.61	-3.22	0.05125	.	.	.	.	.	T	0.04543	0.0124	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.38993	-0.9635	9	0.20519	T	0.43	.	0.6811	0.00875	0.2356:0.2078:0.3498:0.2069	.	648	Q5HY64	FA47C_HUMAN	D	648	ENSP00000367913:N648D	ENSP00000367913:N648D	N	+	1	0	FAM47C	36938346	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.937000	0.01547	-1.437000	0.01967	-1.178000	0.01721	AAT		0.642	FAM47C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060508.1	NM_001013736		3	77	0	0	0	0.115264	0	3	77					G	37028425	A	G	37028425	3	3	219	1	0	0	0	0	1	0	0	0	5571	130	5	4	1944	4	FAM47C	23	37028425	Missense_Mutation	SNP	A	TCGA-HC-7749-01A-11D-2114-08		37028425	118242135	71	10150											
OR13H1	347468	broad.mit.edu	37	chrX	130678204	130678204	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tctttcttattcactttgacCccaacctccacactccaatc	9	14	1	17	0	3	1	1	1	2	0	6	1	5	1	5	0	1	0	5	0	3	4			TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chrX:130678204C>T	ENST00000338616.3	+	1	255	c.157C>T	c.(157-159)Ccc>Tcc	p.P53S		NM_001004486.1	NP_001004486.1	Q8NG92	O13H1_HUMAN	olfactory receptor, family 13, subfamily H, member 1	53						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|large_intestine(3)|lung(7)|prostate(1)|skin(1)	15	Acute lymphoblastic leukemia(192;0.000636)					TCACTTTGACCCCAACCTCCA	0.413																																						ENST00000338616.3																			0				endometrium(3)|large_intestine(3)|lung(7)|prostate(1)|skin(1)	15						c.(157-159)Ccc>Tcc		olfactory receptor, family 13, subfamily H, member 1							198	164	176					X																	130678204		2203	4300	6503	SO:0001583	missense	347468				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chrX:130678204C>T		CCDS35396.1	Xq26.2	2012-08-23			ENSG00000171054	ENSG00000171054		"GPCR / Class A : Olfactory receptors"	14755	protein-coding gene	gene with protein product							Standard	NM_001004486		Approved		uc011muw.2	Q8NG92	OTTHUMG00000022411	ENST00000338616.3:c.157C>T	X.37:g.130678204C>T	ENSP00000340748:p.Pro53Ser						p.P53S	NM_001004486.1	NP_001004486.1	Q8NG92	O13H1_HUMAN			1	255	+	Acute lymphoblastic leukemia(192;0.000636)		53					B2RNQ3|Q6IET8|Q96R12	Missense_Mutation	SNP	ENST00000338616.3	37	c.157C>T	CCDS35396.1	.	.	.	.	.	.	.	.	.	.	C	0.001	-3.030886	0.00041	.	.	ENSG00000171054	ENST00000338616	T	0.00514	6.88	4.87	-2.79	0.05841	GPCR, rhodopsin-like superfamily (1);	0.839018	0.09967	N	0.732670	T	0.00271	0.0008	N	0.17474	0.49	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.37572	-0.9700	10	0.02654	T	1	.	7.4986	0.27505	0.0:0.1944:0.1419:0.6637	.	53	Q8NG92	O13H1_HUMAN	S	53	ENSP00000340748:P53S	ENSP00000340748:P53S	P	+	1	0	OR13H1	130505885	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-0.097000	0.11042	-0.677000	0.05231	-0.881000	0.02953	CCC		0.413	OR13H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058297.1			70	49	0	0	0	0.870114	0	70	49					T	130678204	C	T	130678204	3	4	219	1	0	0	0	0	1	0	0	0	10943	623	22	3	159	3	OR13H1	23	130678204	Missense_Mutation	SNP	C	TCGA-HC-7749-01A-11D-2114-08	93649779	130678204	24592356	72	10151											
SLITRK4	139065	broad.mit.edu	37	chrX	142718314	142718314	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagttgcaattcaacgacaCggccaatgtgttccagaacc	12	8	8	13	2	1	1	1	0	0	1	2	2	2	1	4	1	3	3	4	1	4	3			TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chrX:142718314C>G	ENST00000381779.4	-	2	836	c.611G>C	c.(610-612)cGt>cCt	p.R204P	SLITRK4_ENST00000356928.1_Missense_Mutation_p.R204P|SLITRK4_ENST00000338017.4_Missense_Mutation_p.R204P	NM_001184749.2|NM_001184750.1|NM_173078.4	NP_001171678.1|NP_001171679.1|NP_775101.1	Q8IW52	SLIK4_HUMAN	SLIT and NTRK-like family, member 4	204						integral component of membrane (GO:0016021)		p.R204H(1)		autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(27)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	60	Acute lymphoblastic leukemia(192;6.56e-05)					TTCAACGACACGGCCAATGTG	0.428																																						ENST00000381779.4																			1	Substitution - Missense(1)	p.R204H(1)	large_intestine(1)	autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(27)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	60						c.(610-612)cGt>cCt		SLIT and NTRK-like family, member 4							86	82	84					X																	142718314		2203	4300	6503	SO:0001583	missense	139065					integral to membrane		g.chrX:142718314C>G	BC040986	CCDS14679.1	Xq27.3	2004-06-23			ENSG00000179542	ENSG00000179542			23502	protein-coding gene	gene with protein product		300562				14557068	Standard	NM_001184749		Approved	DKFZp547M2010	uc004fby.3	Q8IW52	OTTHUMG00000022580	ENST00000381779.4:c.611G>C	X.37:g.142718314C>G	ENSP00000371198:p.Arg204Pro					SLITRK4_ENST00000338017.4_Missense_Mutation_p.R204P|SLITRK4_ENST00000356928.1_Missense_Mutation_p.R204P	p.R204P	NM_001184749.1|NM_001184750.1|NM_173078.3	NP_001171678.1|NP_001171679.1|NP_775101.1	Q8IW52	SLIK4_HUMAN			2	836	-	Acute lymphoblastic leukemia(192;6.56e-05)		204					Q5JXG3|Q8TCM8|Q96DL3	Missense_Mutation	SNP	ENST00000381779.4	37	c.611G>C	CCDS14679.1	.	.	.	.	.	.	.	.	.	.	C	14.29	2.490556	0.44249	.	.	ENSG00000179542	ENST00000381779;ENST00000356928;ENST00000338017	T;T;T	0.52983	0.64;0.64;0.64	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	T	0.63954	0.2555	L	0.57130	1.785	0.80722	D	1	D	0.63880	0.993	D	0.63033	0.91	T	0.63377	-0.6651	10	0.48119	T	0.1	-6.3467	17.313	0.87214	0.0:1.0:0.0:0.0	.	204	Q8IW52	SLIK4_HUMAN	P	204	ENSP00000371198:R204P;ENSP00000349400:R204P;ENSP00000336627:R204P	ENSP00000336627:R204P	R	-	2	0	SLITRK4	142545980	1.000000	0.71417	0.840000	0.33206	0.462000	0.32619	7.818000	0.86416	2.412000	0.81896	0.597000	0.82753	CGT		0.428	SLITRK4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058617.1	NM_173078		34	24	0	0	0	0.827153	0	34	24					G	142718314	C	G	142718314	3	3	219	1	0	0	0	0	1	0	0	0	14745	536	19	5	1906	5	SLITRK4	23	142718314	Missense_Mutation	SNP	C	TCGA-HC-7749-01A-11D-2114-08	12040110	142718314	12552246	73	10152											
AADACL4	343066	broad.mit.edu	37	chr1	12726522	12726522	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tagcagatgatgaggtcatcGctcagcttcctgaggccttc	8	11	11	11	1	2	4	2	3	0	1	5	4	3	4	2	2	2	3	2	2	1	3			TCGA-HC-7750-01A-11D-2114-08	TCGA-HC-7750-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56f5e8ae-b53a-4a02-9e21-a2a03f384dc5	64835121-88ee-417e-b978-5e0eafc615b8	g.chr1:12726522G>A	ENST00000376221.1	+	4	1000	c.1000G>A	c.(1000-1002)Gct>Act	p.A334T		NM_001013630.1	NP_001013652.1	Q5VUY2	ADCL4_HUMAN	arylacetamide deacetylase-like 4	334						integral component of membrane (GO:0016021)	carboxylic ester hydrolase activity (GO:0052689)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)	17	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.000937)|all_lung(284;0.00122)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.81e-07)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0384)		TGAGGTCATCGCTCAGCTTCC	0.517																																						ENST00000376221.1																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)	17						c.(1000-1002)Gct>Act		arylacetamide deacetylase-like 4							106	103	104					1																	12726522		2203	4300	6503	SO:0001583	missense	343066					integral to membrane	carboxylesterase activity	g.chr1:12726522G>A		CCDS30590.1	1p36.21	2010-12-14			ENSG00000204518	ENSG00000204518			32038	protein-coding gene	gene with protein product							Standard	XM_006710608		Approved	OTTHUMG00000001889	uc001auf.3	Q5VUY2	OTTHUMG00000001889	ENST00000376221.1:c.1000G>A	1.37:g.12726522G>A	ENSP00000365395:p.Ala334Thr						p.A334T	NM_001013630.1	NP_001013652.1	Q5VUY2	ADCL4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.81e-07)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0384)	4	1000	+	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.000937)|all_lung(284;0.00122)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)	334						Missense_Mutation	SNP	ENST00000376221.1	37	c.1000G>A	CCDS30590.1	.	.	.	.	.	.	.	.	.	.	G	8.771	0.925913	0.18056	.	.	ENSG00000204518	ENST00000376221	T	0.11712	2.75	4.38	2.47	0.30058	Alpha/beta hydrolase fold-3 (1);	0.439522	0.22929	N	0.053935	T	0.07458	0.0188	L	0.44542	1.39	0.09310	N	1	P	0.37276	0.589	B	0.35240	0.198	T	0.26643	-1.0097	10	0.24483	T	0.36	-6.546	3.5447	0.07824	0.0939:0.279:0.4815:0.1456	.	334	Q5VUY2	ADCL4_HUMAN	T	334	ENSP00000365395:A334T	ENSP00000365395:A334T	A	+	1	0	AADACL4	12649109	0.000000	0.05858	0.002000	0.10522	0.000000	0.00434	-1.259000	0.02861	0.447000	0.26695	-0.181000	0.13052	GCT		0.517	AADACL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005328.1	NM_001013630		5	126	0	0	0	1	0	5	126					A	12726522	G	A	12726522	3	1	220	1	0	0	0	0	1	0	0	0	13	1087	38	1	1014	1	AADACL4	1	12726522	Missense_Mutation	SNP	G	TCGA-HC-7750-01A-11D-2114-08		12726522	236524099	1	10153											
EPHA8	2046	broad.mit.edu	37	chr1	22924681	22924681	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtgactgagtacatggagaaCggctctctggacaccttcct	9	10	11	11	1	1	3	0	2	1	1	3	5	2	4	2	3	2	2	2	3	2	2			TCGA-HC-7750-01A-11D-2114-08	TCGA-HC-7750-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56f5e8ae-b53a-4a02-9e21-a2a03f384dc5	64835121-88ee-417e-b978-5e0eafc615b8	g.chr1:22924681C>T	ENST00000166244.3	+	12	2226	c.2154C>T	c.(2152-2154)aaC>aaT	p.N718N		NM_020526.3	NP_065387.1	P29322	EPHA8_HUMAN	EPH receptor A8	718	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|ephrin receptor signaling pathway (GO:0048013)|neuron projection development (GO:0031175)|neuron remodeling (GO:0016322)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|protein autophosphorylation (GO:0046777)|regulation of cell adhesion (GO:0030155)|regulation of cell adhesion mediated by integrin (GO:0033628)|substrate-dependent cell migration (GO:0006929)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)	ATP binding (GO:0005524)|GPI-linked ephrin receptor activity (GO:0005004)			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(6)|lung(22)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		ACATGGAGAACGGCTCTCTGG	0.617																																						ENST00000166244.3																			0				breast(3)|central_nervous_system(5)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(6)|lung(22)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61						c.(2152-2154)aaC>aaT		EPH receptor A8							128	122	124					1																	22924681		2203	4300	6503	SO:0001819	synonymous_variant	2046					integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr1:22924681C>T	BC038796	CCDS225.1, CCDS30626.1	1p36.12	2013-02-11	2004-10-28		ENSG00000070886	ENSG00000070886	2.7.10.1	"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3391	protein-coding gene	gene with protein product		176945	"EphA8"	EEK		1648701	Standard	NM_001006943		Approved	Hek3	uc001bfx.1	P29322	OTTHUMG00000002892	ENST00000166244.3:c.2154C>T	1.37:g.22924681C>T							p.N718N	NM_020526.3	NP_065387.1	P29322	EPHA8_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)	12	2226	+		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)	718			Protein kinase.		Q6IN80|Q8IUX6|Q9NUA9|Q9P269	Silent	SNP	ENST00000166244.3	37	c.2154C>T	CCDS225.1																																																																																				0.617	EPHA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008085.1	NM_020526		4	137	0	0	0	1	0	4	137					T	22924681	C	T	22924681	2	4	220	1	0	0	0	0	0	0	0	1	5173	535	19	1		1	EPHA8	1	22924681	Silent	SNP	C	TCGA-HC-7750-01A-11D-2114-08	10198159	22924681	226325940	2	10154											
SMPDL3B	27293	broad.mit.edu	37	chr1	28282306	28282306	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aggtggtccggaagcatcatCgcgtcatagcagggcagttc	9	8	14	10	3	2	0	2	0	0	0	5	1	3	1	1	4	2	4	1	4	2	2			TCGA-HC-7750-01A-11D-2114-08	TCGA-HC-7750-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56f5e8ae-b53a-4a02-9e21-a2a03f384dc5	64835121-88ee-417e-b978-5e0eafc615b8	g.chr1:28282306C>T	ENST00000373894.3	+	6	993	c.802C>T	c.(802-804)Cgc>Tgc	p.R268C	SMPDL3B_ENST00000373888.4_Missense_Mutation_p.R268C|SMPDL3B_ENST00000549094.1_Missense_Mutation_p.R220C|RP11-460I13.2_ENST00000448015.1_RNA	NM_014474.2	NP_055289.2	Q92485	ASM3B_HUMAN	sphingomyelin phosphodiesterase, acid-like 3B	268					sphingomyelin catabolic process (GO:0006685)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	hydrolase activity, acting on glycosyl bonds (GO:0016798)|sphingomyelin phosphodiesterase activity (GO:0004767)			endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	16		Colorectal(325;3.46e-05)|all_lung(284;0.000414)|Lung NSC(340;0.000431)|Renal(390;0.00121)|Breast(348;0.00345)|Ovarian(437;0.00503)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0419)|OV - Ovarian serous cystadenocarcinoma(117;5.68e-24)|Colorectal(126;1.65e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00303)|BRCA - Breast invasive adenocarcinoma(304;0.00587)|READ - Rectum adenocarcinoma(331;0.055)		GAAGCATCATCGCGTCATAGC	0.562																																						ENST00000373894.3																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	16						c.(802-804)Cgc>Tgc		sphingomyelin phosphodiesterase, acid-like 3B							118	100	106					1																	28282306		2203	4300	6503	SO:0001583	missense	27293				sphingomyelin catabolic process	extracellular space	hydrolase activity, acting on glycosyl bonds|sphingomyelin phosphodiesterase activity	g.chr1:28282306C>T	Y08134	CCDS30655.1, CCDS30656.1	1p35.3	2008-02-05			ENSG00000130768	ENSG00000130768			21416	protein-coding gene	gene with protein product							Standard	NM_014474		Approved	ASML3B	uc001bpg.3	Q92485	OTTHUMG00000003910	ENST00000373894.3:c.802C>T	1.37:g.28282306C>T	ENSP00000363001:p.Arg268Cys					RP11-460I13.2_ENST00000448015.1_RNA|SMPDL3B_ENST00000373888.4_Missense_Mutation_p.R268C|SMPDL3B_ENST00000549094.1_Missense_Mutation_p.R220C	p.R268C	NM_014474.2	NP_055289.2	Q92485	ASM3B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0419)|OV - Ovarian serous cystadenocarcinoma(117;5.68e-24)|Colorectal(126;1.65e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00303)|BRCA - Breast invasive adenocarcinoma(304;0.00587)|READ - Rectum adenocarcinoma(331;0.055)	6	993	+		Colorectal(325;3.46e-05)|all_lung(284;0.000414)|Lung NSC(340;0.000431)|Renal(390;0.00121)|Breast(348;0.00345)|Ovarian(437;0.00503)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)	268					B7ZB35|Q5T0Z0|Q96CB7	Missense_Mutation	SNP	ENST00000373894.3	37	c.802C>T	CCDS30655.1	.	.	.	.	.	.	.	.	.	.	C	11.17	1.558573	0.27827	.	.	ENSG00000130768	ENST00000373894;ENST00000373888;ENST00000549094;ENST00000412515	D;D;D	0.94376	-3.41;-3.41;-3.41	5.34	-3.71	0.04424	Metallophosphoesterase domain (1);	0.955724	0.08766	N	0.897042	D	0.92548	0.7633	L	0.54323	1.7	0.09310	N	1	D;D;D	0.89917	0.999;1.0;0.999	P;P;P	0.59703	0.784;0.862;0.784	D	0.84034	0.0361	10	0.72032	D	0.01	-1.1232	3.1134	0.06366	0.2597:0.2185:0.3899:0.1319	.	220;268;268	F8VWW8;Q92485;Q92485-2	.;ASM3B_HUMAN;.	C	268;268;220;220	ENSP00000363001:R268C;ENSP00000362995:R268C;ENSP00000449450:R220C	ENSP00000362995:R268C	R	+	1	0	SMPDL3B	28154893	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-1.299000	0.02754	-0.250000	0.09555	-3.222000	0.00052	CGC		0.562	SMPDL3B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000011170.1	NM_014474		4	68	0	0	0	1	0	4	68					T	28282306	C	T	28282306	3	4	220	1	0	0	0	0	1	0	0	0	14809	884	31	2	824	2	SMPDL3B	1	28282306	Missense_Mutation	SNP	C	TCGA-HC-7750-01A-11D-2114-08	5357625	28282306	220968315	3	10155											
CAP1	5538	broad.mit.edu	37	chr1	40535451	40535451	+	IGR	DEL	T	T	-																															tacgcagtggccccaaaccaTtctctgcacctaaaccccaa																										TCGA-HC-7750-01A-11D-2114-08	TCGA-HC-7750-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56f5e8ae-b53a-4a02-9e21-a2a03f384dc5	64835121-88ee-417e-b978-5e0eafc615b8	g.chr1:40535451delT	ENST00000433473.3	-	0	2740				CAP1_ENST00000372805.3_Frame_Shift_Del_p.F300fs|CAP1_ENST00000372792.2_Frame_Shift_Del_p.F300fs|CAP1_ENST00000372797.3_Frame_Shift_Del_p.F300fs|CAP1_ENST00000340450.3_Frame_Shift_Del_p.F299fs|CAP1_ENST00000372798.1_Frame_Shift_Del_p.F299fs|CAP1_ENST00000372802.1_Frame_Shift_Del_p.F299fs|CAP1_ENST00000479759.1_3'UTR	NM_000310.3	NP_000301.1	P50897	PPT1_HUMAN	palmitoyl-protein thioesterase 1						adult locomotory behavior (GO:0008344)|associative learning (GO:0008306)|brain development (GO:0007420)|cell death (GO:0008219)|cellular protein catabolic process (GO:0044257)|cofactor metabolic process (GO:0051186)|cofactor transport (GO:0051181)|grooming behavior (GO:0007625)|lipid catabolic process (GO:0016042)|lysosomal lumen acidification (GO:0007042)|membrane raft organization (GO:0031579)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of neuron apoptotic process (GO:0043524)|nervous system development (GO:0007399)|neuron development (GO:0048666)|neurotransmitter secretion (GO:0007269)|pinocytosis (GO:0006907)|positive regulation of pinocytosis (GO:0048549)|positive regulation of receptor-mediated endocytosis (GO:0048260)|protein catabolic process (GO:0030163)|protein depalmitoylation (GO:0002084)|protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)|regulation of phospholipase A2 activity (GO:0032429)|regulation of synapse structure and activity (GO:0050803)|sphingolipid catabolic process (GO:0030149)|visual perception (GO:0007601)	axon (GO:0030424)|cytosol (GO:0005829)|dendrite (GO:0030425)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|lysosome (GO:0005764)|membrane (GO:0016020)|membrane raft (GO:0045121)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|synaptic vesicle (GO:0008021)	palmitoyl-(protein) hydrolase activity (GO:0008474)|palmitoyl-CoA hydrolase activity (GO:0016290)			endometrium(5)|large_intestine(1)|lung(3)|ovary(1)|stomach(1)	11	Lung NSC(20;3.43e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1e-18)|Epithelial(16;3.6e-17)|all cancers(16;1.1e-15)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			CCCCAAACCATTCTCTGCACC	0.527																																						ENST00000372797.3																			0				endometrium(3)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(1)	12						c.(898-900)tcfs		CAP, adenylate cyclase-associated protein 1 (yeast)							108	104	105					1																	40535451		1948	4131	6079	SO:0001628	intergenic_variant	10487				activation of adenylate cyclase activity|axon guidance|establishment or maintenance of cell polarity|platelet activation|platelet degranulation|signal transduction	plasma membrane	actin binding	g.chr1:40535451delT	U44772	CCDS447.1, CCDS44119.1	1p32	2014-09-17	2008-07-31		ENSG00000131238	ENSG00000131238	3.1.2.22		9325	protein-coding gene	gene with protein product	"ceroid-lipofuscinosis, neuronal 1, infantile"	600722		PPT		7637805, 8325646	Standard	NM_000310		Approved	CLN1, INCL	uc001cfb.2	P50897	OTTHUMG00000004495		1.37:g.40535451delT						CAP1_ENST00000372792.2_Frame_Shift_Del_p.F300fs|CAP1_ENST00000479759.1_3'UTR|CAP1_ENST00000372798.1_Frame_Shift_Del_p.F299fs|CAP1_ENST00000372802.1_Frame_Shift_Del_p.F299fs|CAP1_ENST00000372805.3_Frame_Shift_Del_p.F300fs|CAP1_ENST00000340450.3_Frame_Shift_Del_p.F299fs	p.F300fs	NM_001105530.1|NM_006367.3	NP_001099000.1|NP_006358.1	Q01518	CAP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;4.63e-18)|Epithelial(16;1.27e-16)|all cancers(16;2.3e-15)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)		9	1459	+	Lung NSC(20;5.03e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	300					B4DY24|Q6FGQ4	Frame_Shift_Del	DEL	ENST00000433473.3	37	c.898delT	CCDS447.1																																																																																				0.527	PPT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000013126.2	NM_000310		19	101						19	101	---	---	---	---	-	40535451	T	-	40535451	6	5	220	0	1	1	0	1	0	0	0	0	2619	1493	52	0		0	CAP1	1	40535451	IGR	DEL	T	TCGA-HC-7750-01A-11D-2114-08	12253145	40535451	208715170	4	10156											
C1orf227	149643	broad.mit.edu	37	chr1	213009355	213009355	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccgggaagtgcctcttttgaActctcagtaagctgacttga	9	12	10	10	1	2	3	1	3	2	0	3	4	2	4	2	1	3	2	2	1	3	4			TCGA-HC-7750-01A-11D-2114-08	TCGA-HC-7750-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56f5e8ae-b53a-4a02-9e21-a2a03f384dc5	64835121-88ee-417e-b978-5e0eafc615b8	g.chr1:213009355A>G	ENST00000332912.3	-	2	244	c.137T>C	c.(136-138)gTt>gCt	p.V46A		NM_001024601.2	NP_001019772.1	Q537H7	SPT45_HUMAN		46										kidney(1)|large_intestine(1)|lung(1)	3						CCTCTTTTGAACTCTCAGTAA	0.468																																						ENST00000332912.3																			0				kidney(1)|large_intestine(1)|lung(1)	3						c.(136-138)gTt>gCt		chromosome 1 open reading frame 227							193	178	183					1																	213009355		2203	4297	6500	SO:0001583	missense	149643							g.chr1:213009355A>G																												ENST00000332912.3:c.137T>C	1.37:g.213009355A>G	ENSP00000419160:p.Val46Ala						p.V46A	NM_001024601.2	NP_001019772.1	Q537H7	CA227_HUMAN			2	244	-			46						Missense_Mutation	SNP	ENST00000332912.3	37	c.137T>C	CCDS31020.1	.	.	.	.	.	.	.	.	.	.	A	11.17	1.560153	0.27827	.	.	ENSG00000185523	ENST00000332912	T	0.54279	0.58	4.71	1.2	0.21068	.	0.912566	0.09165	N	0.839618	T	0.34424	0.0897	.	.	.	0.09310	N	1	B	0.13594	0.008	B	0.14578	0.011	T	0.23261	-1.0193	9	0.25106	T	0.35	-0.1969	5.9831	0.19419	0.6389:0.0:0.3611:0.0	.	46	Q537H7	CA227_HUMAN	A	46	ENSP00000419160:V46A	ENSP00000419160:V46A	V	-	2	0	C1orf227	211075978	0.233000	0.23772	0.133000	0.22050	0.990000	0.78478	-0.025000	0.12413	0.201000	0.20466	0.528000	0.53228	GTT		0.468	C1orf227-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089672.2			22	130	0	0	0	1	0	22	130					G	213009355	A	G	213009355	3	3	220	1	0	0	0	0	1	0	0	0	2033	43	2	4	167	4	C1orf227	1	213009355	Missense_Mutation	SNP	A	TCGA-HC-7750-01A-11D-2114-08	172473904	213009355	36241266	5	10157											
TRMT61B	55006	broad.mit.edu	37	chr2	29074004	29074004	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttgagaatctagttgtacatCtgtgttgattttagattcta	10	19	8	4	0	3	3	0	2	3	2	3	4	3	3	0	0	1	3	0	0	5	9			TCGA-HC-7750-01A-11D-2114-08	TCGA-HC-7750-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56f5e8ae-b53a-4a02-9e21-a2a03f384dc5	64835121-88ee-417e-b978-5e0eafc615b8	g.chr2:29074004C>T	ENST00000306108.5	-	5	1269	c.1246G>A	c.(1246-1248)Gat>Aat	p.D416N	TRMT61B_ENST00000484060.1_5'Flank	NM_017910.3	NP_060380.3	Q9BVS5	TR61B_HUMAN	tRNA methyltransferase 61 homolog B (S. cerevisiae)	416					mitochondrial tRNA methylation (GO:0070901)|protein homooligomerization (GO:0051260)	mitochondrion (GO:0005739)|tRNA (m1A) methyltransferase complex (GO:0031515)	tRNA (adenine-N1-)-methyltransferase activity (GO:0016429)			endometrium(2)|kidney(1)|large_intestine(2)|lung(8)	13						AGTTGTACATCTGTGTTGATT	0.358																																						ENST00000306108.5																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(8)	13						c.(1246-1248)Gat>Aat		tRNA methyltransferase 61 homolog B (S. cerevisiae)							116	106	109					2																	29074004		2203	4300	6503	SO:0001583	missense	55006						tRNA (adenine-N1-)-methyltransferase activity	g.chr2:29074004C>T	BC010365	CCDS1768.1	2p23.2	2009-01-09			ENSG00000171103	ENSG00000171103			26070	protein-coding gene	gene with protein product						11230166	Standard	NM_017910		Approved	FLJ20628	uc002rmm.3	Q9BVS5	OTTHUMG00000128433	ENST00000306108.5:c.1246G>A	2.37:g.29074004C>T	ENSP00000302801:p.Asp416Asn						p.D416N	NM_017910.3	NP_060380.3	Q9BVS5	TR61B_HUMAN			5	1269	-			416					Q9H0Q9|Q9NWS7	Missense_Mutation	SNP	ENST00000306108.5	37	c.1246G>A	CCDS1768.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	6.036|6.036	0.374918|0.374918	0.11409|0.11409	.|.	.|.	ENSG00000171103|ENSG00000171103	ENST00000306108|ENST00000419999	T|.	0.23348|.	1.91|.	5.61|5.61	3.81|3.81	0.43845|0.43845	.|.	0.307898|.	0.25394|.	N|.	0.030989|.	T|T	0.41743|0.41743	0.1172|0.1172	L|L	0.44542|0.44542	1.39|1.39	0.09310|0.09310	N|N	0.999996|0.999996	B|.	0.23442|.	0.085|.	B|.	0.23275|.	0.045|.	T|T	0.22417|0.22417	-1.0217|-1.0217	10|5	0.45353|.	T|.	0.12|.	.|.	11.5764|11.5764	0.50864|0.50864	0.0:0.8539:0.0:0.1461|0.0:0.8539:0.0:0.1461	.|.	416|.	Q9BVS5|.	TR61B_HUMAN|.	N|K	416|49	ENSP00000302801:D416N|.	ENSP00000302801:D416N|.	D|R	-|-	1|2	0|0	TRMT61B|TRMT61B	28927508|28927508	0.378000|0.378000	0.25114|0.25114	0.107000|0.107000	0.21349|0.21349	0.009000|0.009000	0.06853|0.06853	0.759000|0.759000	0.26461|0.26461	0.725000|0.725000	0.32318|0.32318	-0.143000|-0.143000	0.13931|0.13931	GAT|AGA		0.358	TRMT61B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250224.1	NM_017910		4	43	0	0	0	1	0	4	43					T	29074004	C	T	29074004	3	4	220	1	0	0	0	0	1	0	0	0	16567	913	32	3	199	3	TRMT61B	2	29074004	Missense_Mutation	SNP	C	TCGA-HC-7750-01A-11D-2114-08		29074004	214125369	6	10158											
KLRAQ1	129285	broad.mit.edu	37	chr2	48718172	48718172	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttagattgcatccttcttcAgcaacaatttggactacttc	10	16	5	10	0	2	1	1	0	1	1	4	2	3	2	1	1	4	2	1	1	4	8			TCGA-HC-7750-01A-11D-2114-08	TCGA-HC-7750-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56f5e8ae-b53a-4a02-9e21-a2a03f384dc5	64835121-88ee-417e-b978-5e0eafc615b8	g.chr2:48718172A>G	ENST00000294952.8	+	15	1619	c.1462A>G	c.(1462-1464)Agc>Ggc	p.S488G	PPP1R21_ENST00000449090.2_Missense_Mutation_p.S488G|PPP1R21_ENST00000281394.4_Missense_Mutation_p.S488G	NM_001135629.2	NP_001129101.1	Q6ZMI0	PPR21_HUMAN	protein phosphatase 1, regulatory subunit 21	488						membrane (GO:0016020)	phosphatase binding (GO:0019902)			endometrium(2)|kidney(4)|lung(9)	15						ATCCTTCTTCAGCAACAATTT	0.343																																						ENST00000294952.8																			0				endometrium(2)|kidney(4)|lung(9)	15						c.(1462-1464)Agc>Ggc		protein phosphatase 1, regulatory subunit 21							133	125	128					2																	48718172		2203	4300	6503	SO:0001583	missense	129285							g.chr2:48718172A>G	AY134855	CCDS1839.1, CCDS46278.1, CCDS54358.1	2p16.3	2012-04-17	2011-10-11	2011-10-11	ENSG00000162869	ENSG00000162869		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	30595	protein-coding gene	gene with protein product			"coiled-coil domain containing 128", "KLRAQ motif containing 1"	CCDC128, KLRAQ1		12477932	Standard	NM_001135629		Approved	FLJ16566	uc002rwm.3	Q6ZMI0	OTTHUMG00000129167	ENST00000294952.8:c.1462A>G	2.37:g.48718172A>G	ENSP00000294952:p.Ser488Gly					PPP1R21_ENST00000449090.2_Missense_Mutation_p.S488G|PPP1R21_ENST00000281394.4_Missense_Mutation_p.S488G	p.S488G	NM_001135629.2	NP_001129101.1	Q6ZMI0	KLRAQ_HUMAN			15	1619	+			488					B7ZKY5|B7ZKY7|E1B6W7|Q2TA78|Q6ZMI6|Q8IW83|Q8J029|Q96ES8	Missense_Mutation	SNP	ENST00000294952.8	37	c.1462A>G	CCDS46278.1	.	.	.	.	.	.	.	.	.	.	A	13.00	2.107167	0.37145	.	.	ENSG00000162869	ENST00000281394;ENST00000294952;ENST00000449090	.	.	.	5.51	3.04	0.35103	.	0.144521	0.85682	N	0.000000	T	0.35998	0.0951	L	0.29908	0.895	0.34881	D	0.744577	B;B;B;B	0.06786	0.001;0.0;0.001;0.001	B;B;B;B	0.09377	0.0;0.0;0.0;0.004	T	0.32402	-0.9908	9	0.23891	T	0.37	-1.8395	8.655	0.34058	0.7877:0.0:0.2123:0.0	.	488;488;488;488	E1B6W7;Q6ZMI0;Q6ZMI0-2;Q6ZMI0-3	.;PPR21_HUMAN;.;.	G	488	.	ENSP00000281394:S488G	S	+	1	0	KLRAQ1	48571676	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.441000	0.66569	0.423000	0.26033	0.528000	0.53228	AGC		0.343	PPP1R21-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251238.4	NM_152994		19	112	0	0	0	1	0	19	112					G	48718172	A	G	48718172	3	3	220	1	0	0	0	0	1	0	0	0	8413	188	7	4	1520	4	KLRAQ1	2	48718172	Missense_Mutation	SNP	A	TCGA-HC-7750-01A-11D-2114-08	19644168	48718172	194481201	7	10159											
EIF2AK3	9451	broad.mit.edu	37	chr2	88887559	88887559	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attcttcatgagaaaacttaTcattactgagacatttgtca	14	15	5	7	0	4	2	3	2	1	2	4	4	4	2	0	0	2	0	0	0	4	5			TCGA-HC-7750-01A-11D-2114-08	TCGA-HC-7750-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56f5e8ae-b53a-4a02-9e21-a2a03f384dc5	64835121-88ee-417e-b978-5e0eafc615b8	g.chr2:88887559T>C	ENST00000303236.3	-	8	1671	c.1370A>G	c.(1369-1371)gAt>gGt	p.D457G	EIF2AK3_ENST00000419748.1_Missense_Mutation_p.D306G	NM_004836.5	NP_004827.4	Q9NZJ5	E2AK3_HUMAN	eukaryotic translation initiation factor 2-alpha kinase 3	457					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of signaling protein activity involved in unfolded protein response (GO:0006987)|bone mineralization (GO:0030282)|calcium-mediated signaling (GO:0019722)|cellular protein metabolic process (GO:0044267)|chondrocyte development (GO:0002063)|endocrine pancreas development (GO:0031018)|endoplasmic reticulum organization (GO:0007029)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER overload response (GO:0006983)|fat cell differentiation (GO:0045444)|insulin secretion (GO:0030073)|insulin-like growth factor receptor signaling pathway (GO:0048009)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|lactation (GO:0007595)|negative regulation of apoptotic process (GO:0043066)|negative regulation of gene expression (GO:0010629)|negative regulation of myelination (GO:0031642)|negative regulation of translation (GO:0017148)|negative regulation of translational initiation in response to stress (GO:0032057)|ossification (GO:0001503)|positive regulation of protein binding (GO:0032092)|positive regulation of signal transduction (GO:0009967)|protein autophosphorylation (GO:0046777)|protein homooligomerization (GO:0051260)|protein phosphorylation (GO:0006468)|regulation of fatty acid metabolic process (GO:0019217)|response to endoplasmic reticulum stress (GO:0034976)|skeletal system development (GO:0001501)|SREBP signaling pathway (GO:0032933)|translation (GO:0006412)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|eukaryotic translation initiation factor 2alpha kinase activity (GO:0004694)|identical protein binding (GO:0042802)|protein kinase activity (GO:0004672)|protein phosphatase binding (GO:0019903)|protein serine/threonine kinase activity (GO:0004674)	p.D457G(1)		ovary(3)	3						AGAAAACTTATCATTACTGAG	0.264																																					GBM(138;671 1851 16235 39058 45249)	ENST00000303236.3																			1	Substitution - Missense(1)	p.D457G(1)	central_nervous_system(1)	ovary(3)	3						c.(1369-1371)gAt>gGt		eukaryotic translation initiation factor 2-alpha kinase 3							47	52	50					2																	88887559		2203	4280	6483	SO:0001583	missense	9451				activation of caspase activity|bone mineralization|calcium-mediated signaling|chondrocyte development|endocrine pancreas development|endoplasmic reticulum organization|endoplasmic reticulum unfolded protein response|ER overload response|insulin secretion|insulin-like growth factor receptor signaling pathway|negative regulation of myelination|negative regulation of translational initiation in response to stress|protein autophosphorylation|protein homooligomerization	endoplasmic reticulum membrane|integral to membrane	ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|identical protein binding	g.chr2:88887559T>C	AF110146	CCDS33241.1	2p12	2008-05-21			ENSG00000172071	ENSG00000172071			3255	protein-coding gene	gene with protein product		604032				10026192, 10575235	Standard	NM_004836		Approved	PEK, PERK	uc002stc.4	Q9NZJ5	OTTHUMG00000155046	ENST00000303236.3:c.1370A>G	2.37:g.88887559T>C	ENSP00000307235:p.Asp457Gly					EIF2AK3_ENST00000419748.1_Missense_Mutation_p.D306G	p.D457G	NM_004836.5	NP_004827.4	Q9NZJ5	E2AK3_HUMAN			8	1671	-			457					A0AVH1|A0AVH2|B2RCU9|O95846|Q53QY0|Q53SB1	Missense_Mutation	SNP	ENST00000303236.3	37	c.1370A>G	CCDS33241.1	.	.	.	.	.	.	.	.	.	.	T	26.2	4.710831	0.89112	.	.	ENSG00000172071	ENST00000419748;ENST00000303236;ENST00000535951;ENST00000415570	T;T;T	0.45668	0.89;0.89;0.89	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	T	0.63153	0.2487	M	0.62723	1.935	0.58432	D	0.999995	D	0.89917	1.0	D	0.83275	0.996	T	0.65643	-0.6118	10	0.72032	D	0.01	-29.8156	16.1986	0.82053	0.0:0.0:0.0:1.0	.	457	Q9NZJ5	E2AK3_HUMAN	G	306;457;306;336	ENSP00000408325:D306G;ENSP00000307235:D457G;ENSP00000412076:D336G	ENSP00000307235:D457G	D	-	2	0	EIF2AK3	88668674	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.697000	0.84279	2.227000	0.72691	0.455000	0.32223	GAT		0.264	EIF2AK3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000338233.2	NM_004836		5	91	0	0	0	1	0	5	91					C	88887559	T	C	88887559	3	2	220	1	0	0	0	0	1	0	0	0	4998	1435	50	4	2020	4	EIF2AK3	2	88887559	Missense_Mutation	SNP	T	TCGA-HC-7750-01A-11D-2114-08	40169387	88887559	154311814	8	10160											
CCR2	729230	broad.mit.edu	37	chr3	46399500	46399500	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacctttggggtggtgacaaGtgtgatcacctggttggtgg	6	12	16	7	0	1	2	1	2	0	0	1	2	1	2	2	6	0	1	2	6	1	2			TCGA-HC-7750-01A-11D-2114-08	TCGA-HC-7750-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56f5e8ae-b53a-4a02-9e21-a2a03f384dc5	64835121-88ee-417e-b978-5e0eafc615b8	g.chr3:46399500G>T	ENST00000400888.2	+	1	521	c.482G>T	c.(481-483)aGt>aTt	p.S161I	CCR2_ENST00000465202.1_Intron|CCR2_ENST00000292301.4_Missense_Mutation_p.S161I|CCR2_ENST00000445132.2_Missense_Mutation_p.S161I			P41597	CCR2_HUMAN	chemokine (C-C motif) receptor 2	161					blood vessel remodeling (GO:0001974)|cellular calcium ion homeostasis (GO:0006874)|cellular defense response (GO:0006968)|cellular homeostasis (GO:0019725)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|cytokine-mediated signaling pathway (GO:0019221)|dendritic cell chemotaxis (GO:0002407)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|JAK-STAT cascade (GO:0007259)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of angiogenesis (GO:0016525)|negative regulation of eosinophil degranulation (GO:0043310)|negative regulation of type 2 immune response (GO:0002829)|positive regulation of alpha-beta T cell proliferation (GO:0046641)|positive regulation of astrocyte chemotaxis (GO:2000464)|positive regulation of CD8-positive, alpha-beta T cell extravasation (GO:2000451)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of hematopoietic stem cell migration (GO:2000473)|positive regulation of immune complex clearance by monocytes and macrophages (GO:0090265)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of monocyte chemotaxis (GO:0090026)|positive regulation of monocyte extravasation (GO:2000439)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell chemotaxis (GO:0010820)|positive regulation of T-helper 1 type immune response (GO:0002827)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|regulation of vascular endothelial growth factor production (GO:0010574)|response to wounding (GO:0009611)|T-helper 17 cell chemotaxis (GO:0035705)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	C-C chemokine receptor activity (GO:0016493)|CCR2 chemokine receptor binding (GO:0031727)|chemokine receptor activity (GO:0004950)|protein homodimerization activity (GO:0042803)			breast(3)|endometrium(1)|large_intestine(1)|liver(2)|lung(7)	14				BRCA - Breast invasive adenocarcinoma(193;0.00114)|KIRC - Kidney renal clear cell carcinoma(197;0.0174)|Kidney(197;0.0206)		GTGGTGACAAGTGTGATCACC	0.443																																						ENST00000292301.4																			0				breast(3)|endometrium(1)|large_intestine(1)|liver(2)|lung(7)	14						c.(481-483)aGt>aTt		chemokine (C-C motif) receptor 2							339	311	320					3																	46399500		1568	3582	5150	SO:0001583	missense	729230				astrocyte cell migration|blood vessel remodeling|cellular defense response|chemokine-mediated signaling pathway|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|immune response|inflammatory response|interspecies interaction between organisms|JAK-STAT cascade|monocyte extravasation|negative regulation of adenylate cyclase activity|negative regulation of angiogenesis|negative regulation of eosinophil degranulation|negative regulation of type 2 immune response|positive regulation of alpha-beta T cell proliferation|positive regulation of immune complex clearance by monocytes and macrophages|positive regulation of inflammatory response|positive regulation of interferon-gamma production|positive regulation of interleukin-2 production|positive regulation of monocyte chemotaxis|positive regulation of T cell chemotaxis|positive regulation of T cell extravasation|positive regulation of T-helper 1 type immune response|positive regulation of tumor necrosis factor biosynthetic process|regulation of vascular endothelial growth factor production|T-helper 17 cell chemotaxis	cytosol|dendrite|integral to plasma membrane|perikaryon|perinuclear region of cytoplasm|soluble fraction	C-C chemokine receptor activity|CCR2 chemokine receptor binding|protein homodimerization activity	g.chr3:46399500G>T		CCDS43078.1, CCDS46813.1	3p21	2012-08-08			ENSG00000121807	ENSG00000121807		"GPCR / Class A : Chemokine receptors : C-C motif", "CD molecules"	1603	protein-coding gene	gene with protein product		601267		CMKBR2		8146186	Standard	NM_001123041		Approved	CC-CKR-2, CKR2, MCP-1-R, CD192, FLJ78302	uc003cpn.4	P41597	OTTHUMG00000156466	ENST00000400888.2:c.482G>T	3.37:g.46399500G>T	ENSP00000383681:p.Ser161Ile					CCR2_ENST00000400888.2_Missense_Mutation_p.S161I|CCR2_ENST00000465202.1_Intron|CCR2_ENST00000445132.2_Missense_Mutation_p.S161I	p.S161I	NM_001123041.2	NP_001116513.2	P41597	CCR2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00114)|KIRC - Kidney renal clear cell carcinoma(197;0.0174)|Kidney(197;0.0206)	2	967	+			161					A0AVQ3|B2RMT0|Q4VBL2	Missense_Mutation	SNP	ENST00000400888.2	37	c.482G>T	CCDS43078.1	.	.	.	.	.	.	.	.	.	.	G	17.74	3.463941	0.63513	.	.	ENSG00000121807	ENST00000445132;ENST00000292301;ENST00000400888	T;T;T	0.66460	-0.21;-0.21;-0.21	4.77	4.77	0.60923	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.73992	0.3658	M	0.77820	2.39	0.47547	D	0.99945	P;B	0.40909	0.732;0.183	B;B	0.44278	0.445;0.314	T	0.79638	-0.1720	10	0.87932	D	0	.	18.1649	0.89722	0.0:0.0:1.0:0.0	.	161;161	P41597;Q4VBL2	CCR2_HUMAN;.	I	161	ENSP00000399285:S161I;ENSP00000292301:S161I;ENSP00000383681:S161I	ENSP00000292301:S161I	S	+	2	0	CCR2	46374504	0.940000	0.31905	1.000000	0.80357	0.992000	0.81027	2.938000	0.48987	2.361000	0.80049	0.650000	0.86243	AGT		0.443	CCR2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000344292.1	NM_000647		5	253	1	0	3.59834e-05	1	3.79461e-05	5	253					T	46399500	G	T	46399500	3	4	220	1	0	0	0	0	1	0	0	0	2941	1029	36	5	484	5	CCR2	3	46399500	Missense_Mutation	SNP	G	TCGA-HC-7750-01A-11D-2114-08		46399500	151622930	9	10161											
GPR150	285601	broad.mit.edu	37	chr5	94956112	94956112	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggccgcccagccgccgcgtcCgcctggtgttcctgggggtc	1	7	16	17	5	0	0	0	0	0	0	3	0	2	0	7	4	1	1	7	4	0	1			TCGA-HC-7750-01A-11D-2114-08	TCGA-HC-7750-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56f5e8ae-b53a-4a02-9e21-a2a03f384dc5	64835121-88ee-417e-b978-5e0eafc615b8	g.chr5:94956112C>G	ENST00000380007.2	+	1	331	c.133C>G	c.(133-135)Cgc>Ggc	p.R45G		NM_199243.1	NP_954713.1	Q8NGU9	GP150_HUMAN	G protein-coupled receptor 150	45						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			lung(2)	2		all_cancers(142;0.000462)|all_epithelial(76;2.44e-06)|all_lung(232;0.0318)|Lung NSC(167;0.041)|Ovarian(225;0.051)		all cancers(79;1.82e-16)		CCGCCGCGTCCGCCTGGTGTT	0.726																																						ENST00000380007.2																			0				lung(2)	2						c.(133-135)Cgc>Ggc		G protein-coupled receptor 150							11	15	14					5																	94956112		2063	4118	6181	SO:0001583	missense	285601					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr5:94956112C>G	BC030197	CCDS4074.1	5q15	2012-08-21			ENSG00000178015	ENSG00000178015		"GPCR / Class A : Orphans"	23628	protein-coding gene	gene with protein product						12679517	Standard	NM_199243		Approved	PGR11	uc003kle.1	Q8NGU9	OTTHUMG00000121170	ENST00000380007.2:c.133C>G	5.37:g.94956112C>G	ENSP00000369344:p.Arg45Gly						p.R45G	NM_199243.1	NP_954713.1	Q8NGU9	GP150_HUMAN		all cancers(79;1.82e-16)	1	331	+		all_cancers(142;0.000462)|all_epithelial(76;2.44e-06)|all_lung(232;0.0318)|Lung NSC(167;0.041)|Ovarian(225;0.051)	45						Missense_Mutation	SNP	ENST00000380007.2	37	c.133C>G	CCDS4074.1	.	.	.	.	.	.	.	.	.	.	C	13.37	2.215781	0.39102	.	.	ENSG00000178015	ENST00000380007	T	0.37235	1.21	4.23	3.34	0.38264	.	0.282328	0.24102	N	0.041522	T	0.26412	0.0645	N	0.24115	0.695	0.26560	N	0.973756	P	0.39216	0.664	B	0.39379	0.298	T	0.09400	-1.0676	10	0.46703	T	0.11	-5.1309	12.2645	0.54670	0.1717:0.8283:0.0:0.0	.	45	Q8NGU9	GP150_HUMAN	G	45	ENSP00000369344:R45G	ENSP00000369344:R45G	R	+	1	0	GPR150	94981868	0.000000	0.05858	0.995000	0.50966	0.585000	0.36419	0.432000	0.21461	0.990000	0.38787	0.456000	0.33151	CGC		0.726	GPR150-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241657.2			6	25	0	0	0	1	0	6	25					G	94956112	C	G	94956112	3	3	220	1	0	0	0	0	1	0	0	0	6656	652	23	5	135	5	GPR150	5	94956112	Missense_Mutation	SNP	C	TCGA-HC-7750-01A-11D-2114-08		94956112	85959148	10	10162											
ZNF608	57507	broad.mit.edu	37	chr5	123980084	123980084	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gacagccactcttgttccccGagagtccttccagttcacag	8	10	8	15	1	2	1	1	0	1	1	5	3	5	1	5	0	1	2	5	0	0	4	rs374342163		TCGA-HC-7750-01A-11D-2114-08	TCGA-HC-7750-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56f5e8ae-b53a-4a02-9e21-a2a03f384dc5	64835121-88ee-417e-b978-5e0eafc615b8	g.chr5:123980084G>A	ENST00000306315.5	-	5	4411	c.3976C>T	c.(3976-3978)Cgg>Tgg	p.R1326W	ZNF608_ENST00000513985.1_5'Flank|ZNF608_ENST00000504926.1_Missense_Mutation_p.R899W	NM_020747.2	NP_065798.2	Q9ULD9	ZN608_HUMAN	zinc finger protein 608	1326							metal ion binding (GO:0046872)			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(12)|ovary(3)|skin(6)|urinary_tract(1)	46		all_cancers(142;0.186)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783)		CTTGTTCCCCGAGAGTCCTTC	0.493													G|||	1	0.000199681	0	0	5008	,	,		18479	0		0	False		,,,				2504	0.001					ENST00000306315.5																			0				breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(12)|ovary(3)|skin(6)|urinary_tract(1)	46						c.(3976-3978)Cgg>Tgg		zinc finger protein 608		G	TRP/ARG	0,4406		0,0,2203	229	204	212		3976	4.9	1	5		212	1,8599	1.2+/-3.3	0,1,4299	no	missense	ZNF608	NM_020747.2	101	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	1326/1513	123980084	1,13005	2203	4300	6503	SO:0001583	missense	57507					intracellular	zinc ion binding	g.chr5:123980084G>A	AB033107	CCDS34219.1	5q23.2	2008-05-02			ENSG00000168916	ENSG00000168916		"Zinc fingers, C2H2-type"	29238	protein-coding gene	gene with protein product						10574462, 10508479	Standard	NM_020747		Approved	KIAA1281, DKFZp434M098, NY-REN-36	uc003ktq.1	Q9ULD9	OTTHUMG00000162999	ENST00000306315.5:c.3976C>T	5.37:g.123980084G>A	ENSP00000307746:p.Arg1326Trp					ZNF608_ENST00000504926.1_Missense_Mutation_p.R899W	p.R1326W	NM_020747.2	NP_065798.2	Q9ULD9	ZN608_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783)	5	4411	-		all_cancers(142;0.186)|Prostate(80;0.081)	1326					A7E2W9|Q3SYM6|Q68D12|Q8IY05|Q9Y5A1	Missense_Mutation	SNP	ENST00000306315.5	37	c.3976C>T	CCDS34219.1	.	.	.	.	.	.	.	.	.	.	G	19.09	3.760325	0.69763	0.0	1.16E-4	ENSG00000168916	ENST00000504926;ENST00000306315	T;T	0.55052	0.54;0.64	5.76	4.89	0.63831	.	0.268546	0.37053	N	0.002272	T	0.43366	0.1244	L	0.51422	1.61	0.43555	D	0.995862	B	0.25007	0.116	B	0.16722	0.016	T	0.31475	-0.9942	9	.	.	.	-18.6356	9.7326	0.40370	0.0703:0.0:0.7895:0.1402	.	1326	Q9ULD9	ZN608_HUMAN	W	899;1326	ENSP00000427657:R899W;ENSP00000307746:R1326W	.	R	-	1	2	ZNF608	124007983	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	3.427000	0.52785	1.563000	0.49615	0.643000	0.83706	CGG		0.493	ZNF608-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371300.1	XM_114432		4	125	0	0	0	1	0	4	125					A	123980084	G	A	123980084	3	1	220	1	0	0	0	0	1	0	0	0	18031	1057	37	2	582	2	ZNF608	5	123980084	Missense_Mutation	SNP	G	TCGA-HC-7750-01A-11D-2114-08	29023972	123980084	56935176	11	10163											
FAT2	2196	broad.mit.edu	37	chr5	150947124	150947124	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ataggaagacctgttgaagaGgggggcatggttgttgcagt	10	10	17	4	0	0	3	0	1	0	2	0	4	0	4	1	5	1	5	1	5	3	4			TCGA-HC-7750-01A-11D-2114-08	TCGA-HC-7750-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56f5e8ae-b53a-4a02-9e21-a2a03f384dc5	64835121-88ee-417e-b978-5e0eafc615b8	g.chr5:150947124G>A	ENST00000261800.5	-	1	1381	c.1369C>T	c.(1369-1371)Ctc>Ttc	p.L457F		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	457	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				epithelial cell migration (GO:0010631)|homophilic cell adhesion (GO:0007156)	cell-cell adherens junction (GO:0005913)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CTGTTGAAGAGGGGGGCATGG	0.552																																						ENST00000261800.5																			0				NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196						c.(1369-1371)Ctc>Ttc		FAT atypical cadherin 2							122	122	122					5																	150947124		2203	4300	6503	SO:0001583	missense	2196				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding	g.chr5:150947124G>A	AF231022	CCDS4317.1	5q33.1	2014-07-21	2013-05-31		ENSG00000086570	ENSG00000086570		"Cadherins / Cadherin-related"	3596	protein-coding gene	gene with protein product	"cadherin-related family member 9"	604269	"FAT tumor suppressor (Drosophila) homolog 2", "FAT tumor suppressor homolog 2 (Drosophila)"			9693030	Standard	NM_001447		Approved	MEGF1, CDHF8, HFAT2, CDHR9	uc003lue.4	Q9NYQ8	OTTHUMG00000130126	ENST00000261800.5:c.1369C>T	5.37:g.150947124G>A	ENSP00000261800:p.Leu457Phe						p.L457F	NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		1	1381	-		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	457			Cadherin 3.		O75091|Q9NSR7	Missense_Mutation	SNP	ENST00000261800.5	37	c.1369C>T	CCDS4317.1	.	.	.	.	.	.	.	.	.	.	G	6.459	0.452859	0.12283	.	.	ENSG00000086570	ENST00000261800	T	0.61627	0.09	5.72	-9.11	0.00711	Cadherin (2);Cadherin-like (1);	1.292390	0.05102	N	0.487321	T	0.36826	0.0981	N	0.19112	0.55	0.09310	N	1	B	0.23735	0.09	B	0.16289	0.015	T	0.40421	-0.9564	10	0.09590	T	0.72	.	16.6725	0.85271	0.0:0.6488:0.0855:0.2657	.	457	Q9NYQ8	FAT2_HUMAN	F	457	ENSP00000261800:L457F	ENSP00000261800:L457F	L	-	1	0	FAT2	150927317	0.000000	0.05858	0.096000	0.21009	0.494000	0.33585	-0.668000	0.05268	-1.642000	0.01521	-1.048000	0.02349	CTC		0.552	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252434.1	NM_001447		4	135	0	0	0	1	0	4	135					A	150947124	G	A	150947124	3	1	220	1	0	0	0	0	1	0	0	0	5690	1000	35	3	11772	3	FAT2	5	150947124	Missense_Mutation	SNP	G	TCGA-HC-7750-01A-11D-2114-08	26967040	150947124	29968136	12	10164											
TXNDC5	81567	broad.mit.edu	37	chr6	7904855	7904855	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcacacgtcggagtgggccGtgcagtccactttagccaca	9	7	12	13	3	0	0	0	0	0	0	2	1	1	1	3	2	3	2	3	2	1	2			TCGA-HC-7750-01A-11D-2114-08	TCGA-HC-7750-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56f5e8ae-b53a-4a02-9e21-a2a03f384dc5	64835121-88ee-417e-b978-5e0eafc615b8	g.chr6:7904855G>A	ENST00000379757.4	-	2	402	c.365C>T	c.(364-366)aCg>aTg	p.T122M	BLOC1S5-TXNDC5_ENST00000439343.2_3'UTR|TXNDC5_ENST00000539054.1_Missense_Mutation_p.T50M|TXNDC5_ENST00000473453.1_Missense_Mutation_p.T14M	NM_030810.3	NP_110437.2	Q8NBS9	TXND5_HUMAN	thioredoxin domain containing 5 (endoplasmic reticulum)	122	Thioredoxin 1. {ECO:0000255|PROSITE- ProRule:PRU00691}.				apoptotic cell clearance (GO:0043277)|cell redox homeostasis (GO:0045454)|membrane organization (GO:0061024)|negative regulation of apoptotic process (GO:0043066)|post-Golgi vesicle-mediated transport (GO:0006892)|protein folding (GO:0006457)|response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)	protein disulfide isomerase activity (GO:0003756)	p.T122M(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|prostate(1)|skin(2)	22	Ovarian(93;0.0398)					GGAGTGGGCCGTGCAGTCCAC	0.577																																					Ovarian(119;1430 1625 3928 26125 34589)	ENST00000539054.1																			1	Substitution - Missense(1)	p.T122M(1)	large_intestine(1)								c.(148-150)aCg>aTg									179	133	149					6																	7904855		2203	4300	6503	SO:0001583	missense	0							g.chr6:7904855G>A	AK025006	CCDS4505.1, CCDS47369.1	6p24.3	2011-10-19	2009-02-23		ENSG00000239264	ENSG00000239264		"Protein disulfide isomerases"	21073	protein-coding gene	gene with protein product	"protein disulfide isomerase family A, member 15"		"thioredoxin domain containing 5"				Standard	NM_001145549		Approved	MGC3178, FLJ21353, FLJ90810, EndoPDI, Hcc-2, ERp46, PDIA15	uc003mxv.3	Q8NBS9	OTTHUMG00000014216	ENST00000379757.4:c.365C>T	6.37:g.7904855G>A	ENSP00000369081:p.Thr122Met					TXNDC5_ENST00000473453.1_Missense_Mutation_p.T14M|BLOC1S5-TXNDC5_ENST00000604490.1_Missense_Mutation_p.T14M|TXNDC5_ENST00000379757.4_Missense_Mutation_p.T122M	p.T50M							2	148	-								B2RDM2|Q5TCQ0|Q8ND33|Q8TCT2|Q9BVH9	Missense_Mutation	SNP	ENST00000379757.4	37	c.149C>T	CCDS4505.1	.	.	.	.	.	.	.	.	.	.	.	17.47	3.397491	0.62177	.	.	ENSG00000239264	ENST00000539054;ENST00000379757;ENST00000473453	T;T;T	0.45276	0.9;0.9;0.9	4.99	4.99	0.66335	Thioredoxin domain (1);Thioredoxin-like fold (3);	0.113958	0.64402	D	0.000014	T	0.72104	0.3419	H	0.96015	3.755	0.51482	D	0.999927	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.988	T	0.82651	-0.0352	10	0.87932	D	0	.	17.0573	0.86537	0.0:0.0:1.0:0.0	.	50;122	Q86UY0;Q8NBS9	.;TXND5_HUMAN	M	50;122;14	ENSP00000442453:T50M;ENSP00000369081:T122M;ENSP00000420784:T14M	ENSP00000442453:T50M	T	-	2	0	TXNDC5	7849854	1.000000	0.71417	0.991000	0.47740	0.444000	0.32077	6.685000	0.74543	2.285000	0.76669	0.558000	0.71614	ACG		0.577	TXNDC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039792.1	NM_030810		3	44	0	0	0	1	0	3	44					A	7904855	G	A	7904855	3	1	220	1	0	0	0	0	1	0	0	0	16796	1145	40	1	969	1	TXNDC5	6	7904855	Missense_Mutation	SNP	G	TCGA-HC-7750-01A-11D-2114-08		7904855	163210212	13	10165											
HIST1H4B	8366	broad.mit.edu	37	chr6	26027266	26027266	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gcttggcgtgctccgtgtagGtcacggcgtcccggatcacg	4	9	15	13	6	2	0	2	0	0	0	4	1	4	1	2	4	1	3	2	4	1	2			TCGA-HC-7750-01A-11D-2114-08	TCGA-HC-7750-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56f5e8ae-b53a-4a02-9e21-a2a03f384dc5	64835121-88ee-417e-b978-5e0eafc615b8	g.chr6:26027266G>A	ENST00000377364.3	-	1	214	c.215C>T	c.(214-216)aCc>aTc	p.T72I		NM_003544.2	NP_003535.1	P62805	H4_HUMAN	histone cluster 1, H4b	72					CENP-A containing nucleosome assembly (GO:0034080)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|histone H4-K20 demethylation (GO:0035574)|mitotic cell cycle (GO:0000278)|negative regulation of megakaryocyte differentiation (GO:0045653)|nucleosome assembly (GO:0006334)|telomere maintenance (GO:0000723)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|histone demethylase activity (H4-K20 specific) (GO:0035575)|poly(A) RNA binding (GO:0044822)			large_intestine(4)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)	13						CTCCGTGTAGGTCACGGCGTC	0.557											OREG0017238	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000377364.3																			0				large_intestine(4)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)	13						c.(214-216)aCc>aTc		histone cluster 1, H4b							112	94	100					6																	26027266		2203	4300	6503	SO:0001583	missense	8366				CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding	g.chr6:26027266G>A	X67081	CCDS4572.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000124529	ENSG00000278705		"Histones / Replication-dependent"	4789	protein-coding gene	gene with protein product		602829	"H4 histone family, member I", "histone 1, H4b"	H4FI		9119399, 12408966	Standard	NM_003544		Approved	H4/I	uc003nfr.3	P62805	OTTHUMG00000014417	ENST00000377364.3:c.215C>T	6.37:g.26027266G>A	ENSP00000366581:p.Thr72Ile		OREG0017238	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	783		p.T72I	NM_003544.2	NP_003535.1	P62805	H4_HUMAN			1	214	-			72					A2VCL0|P02304|P02305|Q6DRA9|Q6FGB8|Q6NWP7	Missense_Mutation	SNP	ENST00000377364.3	37	c.215C>T	CCDS4572.1	.	.	.	.	.	.	.	.	.	.	g	18.37	3.608465	0.66558	.	.	ENSG00000124529	ENST00000377364	T	0.66460	-0.21	4.65	4.65	0.58169	.	0.000000	0.53938	U	0.000042	T	0.75236	0.3822	.	.	.	0.47123	D	0.999327	.	.	.	.	.	.	T	0.78411	-0.2214	7	0.66056	D	0.02	.	17.4106	0.87484	0.0:0.0:1.0:0.0	.	.	.	.	I	72	ENSP00000366581:T72I	ENSP00000366581:T72I	T	-	2	0	HIST1H4B	26135245	1.000000	0.71417	1.000000	0.80357	0.068000	0.16541	9.314000	0.96306	2.506000	0.84524	0.563000	0.77884	ACC		0.557	HIST1H4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040079.2	NM_003544		3	56	0	0	0	1	0	3	56					A	26027266	G	A	26027266	3	1	220	1	0	0	0	0	1	0	0	0	7166	1261	44	3	100	3	HIST1H4B	6	26027266	Missense_Mutation	SNP	G	TCGA-HC-7750-01A-11D-2114-08	18122411	26027266	145087801	14	10166											
PLEKHG1	57480	broad.mit.edu	37	chr6	151152162	151152162	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agaacagccccaaaacagaaGggcaggaggagatgactccc	16	2	12	11	0	0	4	0	1	0	3	1	6	1	5	3	3	3	1	3	3	4	0			TCGA-HC-7750-01A-11D-2114-08	TCGA-HC-7750-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56f5e8ae-b53a-4a02-9e21-a2a03f384dc5	64835121-88ee-417e-b978-5e0eafc615b8	g.chr6:151152162G>A	ENST00000358517.2	+	15	2126	c.1915G>A	c.(1915-1917)Ggg>Agg	p.G639R	PLEKHG1_ENST00000367328.1_Missense_Mutation_p.G639R			Q9ULL1	PKHG1_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 1	639							Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(19)|ovary(5)|prostate(4)|stomach(1)|urinary_tract(3)	53			BRCA - Breast invasive adenocarcinoma(37;0.0923)	OV - Ovarian serous cystadenocarcinoma(155;6.69e-13)		CAAAACAGAAGGGCAGGAGGA	0.473																																						ENST00000367328.1																			0				breast(3)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(19)|ovary(5)|prostate(4)|stomach(1)|urinary_tract(3)	53						c.(1915-1917)Ggg>Agg		pleckstrin homology domain containing, family G (with RhoGef domain) member 1							48	42	44					6																	151152162		2203	4300	6503	SO:0001583	missense	57480				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	g.chr6:151152162G>A	AB033035	CCDS34552.1	6q25.1	2013-01-11			ENSG00000120278	ENSG00000120278		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	20884	protein-coding gene	gene with protein product						10574462	Standard	XM_005267064		Approved	KIAA1209, ARHGEF41	uc003qny.1	Q9ULL1	OTTHUMG00000015824	ENST00000358517.2:c.1915G>A	6.37:g.151152162G>A	ENSP00000351318:p.Gly639Arg					PLEKHG1_ENST00000358517.2_Missense_Mutation_p.G639R	p.G639R	NM_001029884.1	NP_001025055.1	Q9ULL1	PKHG1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.0923)	OV - Ovarian serous cystadenocarcinoma(155;6.69e-13)	16	2227	+			639					Q5T1F2	Missense_Mutation	SNP	ENST00000358517.2	37	c.1915G>A	CCDS34552.1	.	.	.	.	.	.	.	.	.	.	G	7.192	0.591652	0.13812	.	.	ENSG00000120278	ENST00000367328;ENST00000535018;ENST00000358517	T;T	0.58060	0.36;0.36	5.52	3.32	0.38043	.	0.750686	0.13444	N	0.387426	T	0.23289	0.0563	L	0.46157	1.445	0.09310	N	1	B;B;B	0.18741	0.03;0.004;0.004	B;B;B	0.12837	0.008;0.005;0.008	T	0.12993	-1.0526	10	0.30854	T	0.27	.	8.2037	0.31441	0.1261:0.2697:0.6042:0.0	.	446;639;639	Q5EBL9;Q5JYA6;Q9ULL1	.;.;PKHG1_HUMAN	R	639	ENSP00000356297:G639R;ENSP00000351318:G639R	ENSP00000351318:G639R	G	+	1	0	PLEKHG1	151193855	0.028000	0.19301	0.002000	0.10522	0.014000	0.08584	1.884000	0.39668	1.277000	0.44412	0.555000	0.69702	GGG		0.473	PLEKHG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042691.1			4	26	0	0	0	1	0	4	26					A	151152162	G	A	151152162	3	1	220	1	0	0	0	0	1	0	0	0	12068	1000	35	3	1969	3	PLEKHG1	6	151152162	Missense_Mutation	SNP	G	TCGA-HC-7750-01A-11D-2114-08	125124896	151152162	19962905	15	10167											
C7orf33	202865	broad.mit.edu	37	chr7	148288133	148288133	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaggcgccggattgaccttcGcctgagtgggagggcagtcg	7	7	17	10	4	0	2	0	2	0	0	2	4	0	4	3	4	0	1	3	4	1	2			TCGA-HC-7750-01A-11D-2114-08	TCGA-HC-7750-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56f5e8ae-b53a-4a02-9e21-a2a03f384dc5	64835121-88ee-417e-b978-5e0eafc615b8	g.chr7:148288133G>A	ENST00000307003.2	+	1	477	c.116G>A	c.(115-117)cGc>cAc	p.R39H		NM_145304.2	NP_660347.1	Q8WU49	CG033_HUMAN	chromosome 7 open reading frame 33	39										central_nervous_system(1)|large_intestine(4)|lung(7)|prostate(2)	14	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00291)			ATTGACCTTCGCCTGAGTGGG	0.557																																						ENST00000307003.2																			0				central_nervous_system(1)|large_intestine(4)|lung(7)|prostate(2)	14						c.(115-117)cGc>cAc		chromosome 7 open reading frame 33							90	75	80					7																	148288133		2203	4300	6503	SO:0001583	missense	202865							g.chr7:148288133G>A	BC021251	CCDS5890.1	7q36.1	2011-11-24			ENSG00000170279	ENSG00000170279			21724	protein-coding gene	gene with protein product							Standard	NM_145304		Approved		uc003wew.3	Q8WU49	OTTHUMG00000152756	ENST00000307003.2:c.116G>A	7.37:g.148288133G>A	ENSP00000304071:p.Arg39His						p.R39H	NM_145304.2	NP_660347.1	Q8WU49	CG033_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00291)		1	477	+	Melanoma(164;0.15)		39						Missense_Mutation	SNP	ENST00000307003.2	37	c.116G>A	CCDS5890.1	.	.	.	.	.	.	.	.	.	.	G	4.317	0.058129	0.08339	.	.	ENSG00000170279	ENST00000307003	.	.	.	2.83	1.01	0.19927	.	.	.	.	.	T	0.18257	0.0438	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.22906	-1.0203	8	0.27082	T	0.32	.	5.1737	0.15124	0.28:0.0:0.72:0.0	.	39	Q8WU49	CG033_HUMAN	H	39	.	ENSP00000304071:R39H	R	+	2	0	C7orf33	147919066	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.310000	0.08135	0.275000	0.22094	-0.225000	0.12378	CGC		0.557	C7orf33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327684.1	NM_145304		20	78	0	0	0	1	0	20	78					A	148288133	G	A	148288133	3	1	220	1	0	0	0	0	1	0	0	0	2388	1087	38	1	118	1	C7orf33	7	148288133	Missense_Mutation	SNP	G	TCGA-HC-7750-01A-11D-2114-08		148288133	10850530	16	10168											
CYP7A1	1581	broad.mit.edu	37	chr8	59410894	59410894	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaaatggacatattttcccAttagtttgcaggtaaaaaca	15	13	7	6	0	0	1	0	1	0	0	1	2	1	2	1	2	2	3	1	2	6	6			TCGA-HC-7750-01A-11D-2114-08	TCGA-HC-7750-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56f5e8ae-b53a-4a02-9e21-a2a03f384dc5	64835121-88ee-417e-b978-5e0eafc615b8	g.chr8:59410894A>G	ENST00000301645.3	-	2	352	c.215T>C	c.(214-216)aTg>aCg	p.M72T		NM_000780.3	NP_000771.2	P22680	CP7A1_HUMAN	cytochrome P450, family 7, subfamily A, polypeptide 1	72					bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cellular lipid metabolic process (GO:0044255)|cellular response to cholesterol (GO:0071397)|cellular response to glucose stimulus (GO:0071333)|cholesterol catabolic process (GO:0006707)|cholesterol homeostasis (GO:0042632)|regulation of bile acid biosynthetic process (GO:0070857)|small molecule metabolic process (GO:0044281)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)	cholesterol 7-alpha-monooxygenase activity (GO:0008123)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			breast(4)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(1)|urinary_tract(1)	34		all_lung(136;0.0271)|Lung NSC(129;0.0351)|all_epithelial(80;0.0554)				ATATTTTCCCATTAGTTTGCA	0.388									Neonatal Giant Cell Hepatitis																													ENST00000301645.3																			0				breast(4)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(1)|urinary_tract(1)	34						c.(214-216)aTg>aCg		cytochrome P450, family 7, subfamily A, polypeptide 1							144	144	144					8																	59410894		2203	4300	6503	SO:0001583	missense	1581	Neonatal Giant Cell Hepatitis	Familial Cancer Database	Neonatal Hemochromatosis	bile acid biosynthetic process|cellular lipid metabolic process|cellular response to cholesterol|cellular response to glucose stimulus|cholesterol catabolic process|cholesterol homeostasis|regulation of bile acid biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	cholesterol 7-alpha-monooxygenase activity|electron carrier activity|heme binding	g.chr8:59410894A>G	M89803	CCDS6171.1	8q11-q12	2010-05-04	2003-01-14		ENSG00000167910	ENSG00000167910	1.14.13.17	"Cytochrome P450s"	2651	protein-coding gene	gene with protein product	"cholesterol 7 alpha-monooxygenase"	118455	"cytochrome P450, subfamily VIIA (cholesterol 7 alpha-monooxygenase), polypeptide 1"	CYP7		1358792	Standard	NM_000780		Approved		uc003xtm.4	P22680	OTTHUMG00000164301	ENST00000301645.3:c.215T>C	8.37:g.59410894A>G	ENSP00000301645:p.Met72Thr						p.M72T	NM_000780.3	NP_000771.2	P22680	CP7A1_HUMAN			2	352	-		all_lung(136;0.0271)|Lung NSC(129;0.0351)|all_epithelial(80;0.0554)	72					P78454|Q3MIL8|Q7KZ19	Missense_Mutation	SNP	ENST00000301645.3	37	c.215T>C	CCDS6171.1	.	.	.	.	.	.	.	.	.	.	A	15.29	2.790626	0.50102	.	.	ENSG00000167910	ENST00000301645	T	0.68479	-0.33	5.9	5.9	0.94986	.	0.087582	0.85682	D	0.000000	T	0.65123	0.2661	L	0.51422	1.61	0.40036	D	0.975599	B	0.23185	0.081	B	0.39185	0.293	T	0.67047	-0.5769	10	0.62326	D	0.03	-24.0199	6.3055	0.21137	0.81:0.0:0.19:0.0	.	72	P22680	CP7A1_HUMAN	T	72	ENSP00000301645:M72T	ENSP00000301645:M72T	M	-	2	0	CYP7A1	59573448	1.000000	0.71417	0.996000	0.52242	0.933000	0.57130	7.640000	0.83355	2.254000	0.74563	0.482000	0.46254	ATG		0.388	CYP7A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378190.1	NM_000780		33	134	0	0	0	1	0	33	134					G	59410894	A	G	59410894	3	3	220	1	0	0	0	0	1	0	0	0	4196	217	8	4	1319	4	CYP7A1	8	59410894	Missense_Mutation	SNP	A	TCGA-HC-7750-01A-11D-2114-08		59410894	86953128	17	10169											
KIAA1529	100499483	broad.mit.edu	37	chr9	100071830	100071830	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtgatgtctccccgacagcaGaagtggatgcacagcctccc	9	7	11	14	1	1	2	0	1	1	1	3	4	2	3	4	1	3	2	4	1	1	0			TCGA-HC-7750-01A-11D-2114-08	TCGA-HC-7750-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56f5e8ae-b53a-4a02-9e21-a2a03f384dc5	64835121-88ee-417e-b978-5e0eafc615b8	g.chr9:100071830G>A	ENST00000357054.1	+	17	1688	c.753G>A	c.(751-753)caG>caA	p.Q251Q	CCDC180_ENST00000395220.1_Silent_p.Q251Q|CCDC180_ENST00000411667.2_Silent_p.Q112Q|CCDC180_ENST00000460482.2_3'UTR|RP11-23J9.4_ENST00000534123.1_RNA|CCDC180_ENST00000529487.1_Silent_p.Q112Q|CCDC180_ENST00000375202.2_Silent_p.Q112Q			Q9P1Z9	CC180_HUMAN	coiled-coil domain containing 180	251						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)											CCCGACAGCAGAAGTGGATGC	0.572																																						ENST00000375202.2																			0											c.(334-336)caG>caA		coiled-coil domain containing 180							101	80	88					9																	100071830		2203	4300	6503	SO:0001819	synonymous_variant	100499483							g.chr9:100071830G>A	AK123391	CCDS35077.1, CCDS35077.2	9q22.33	2013-03-08	2013-03-08	2013-03-08		ENSG00000197816			29303	protein-coding gene	gene with protein product	"Behcet's Disease Associated Gene 1"		"KIAA1529", "chromosome 9 open reading frame 174"	KIAA1529, C9orf174		10819331	Standard	NM_020893		Approved	DKFZp434I2420, BDAG1	uc004axg.2	Q9P1Z9	OTTHUMG00000167001	ENST00000357054.1:c.753G>A	9.37:g.100071830G>A						CCDC180_ENST00000529487.1_Silent_p.Q112Q|CCDC180_ENST00000357054.1_Silent_p.Q251Q|RP11-23J9.4_ENST00000534123.1_RNA|CCDC180_ENST00000395220.1_Silent_p.Q251Q|CCDC180_ENST00000411667.2_Silent_p.Q112Q|CCDC180_ENST00000460482.2_3'UTR	p.Q112Q							17	1688	+								Q2KHR6|Q5VV25|Q68DP5|Q69YV9|Q6AHY0	Silent	SNP	ENST00000357054.1	37	c.336G>A																																																																																					0.572	CCDC180-201	KNOWN	basic	protein_coding	protein_coding		NM_020893		8	72	0	0	0	1	0	8	72					A	100071830	G	A	100071830	2	1	220	1	0	0	0	0	0	0	0	1	8240	933	33	3		3	KIAA1529	9	100071830	Silent	SNP	G	TCGA-HC-7750-01A-11D-2114-08		100071830	41141601	18	10170											
INVS	27130	broad.mit.edu	37	chr9	103055173	103055173	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggtatctaaggagactgaTccagcacctggtcccctctc	9	9	9	14	0	2	2	0	1	2	1	5	3	4	2	4	3	1	2	4	3	2	2			TCGA-HC-7750-01A-11D-2114-08	TCGA-HC-7750-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56f5e8ae-b53a-4a02-9e21-a2a03f384dc5	64835121-88ee-417e-b978-5e0eafc615b8	g.chr9:103055173T>C	ENST00000262457.2	+	14	2819	c.2634T>C	c.(2632-2634)gaT>gaC	p.D878D	INVS_ENST00000541287.1_Silent_p.D782D|INVS_ENST00000262456.2_Intron	NM_014425.3	NP_055240.2	Q9Y283	INVS_HUMAN	inversin	878					embryonic heart tube left/right pattern formation (GO:0060971)|kidney development (GO:0001822)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|pancreas development (GO:0031016)|post-embryonic development (GO:0009791)|Wnt signaling pathway (GO:0016055)	cilium (GO:0005929)|cytoplasm (GO:0005737)|membrane (GO:0016020)|microtubule (GO:0005874)|nucleus (GO:0005634)				breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(4)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31		Acute lymphoblastic leukemia(62;0.056)				AGGAGACTGATCCAGCACCTG	0.527																																						ENST00000262457.2																			0				breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(4)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31						c.(2632-2634)gaT>gaC		inversin							90	92	91					9																	103055173		2203	4300	6503	SO:0001819	synonymous_variant	27130				negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	cytoplasm|membrane|microtubule|nucleus|spindle	calmodulin binding	g.chr9:103055173T>C	AF039217	CCDS6746.1, CCDS6747.1	9q31	2013-01-10	2003-08-11		ENSG00000119509	ENSG00000119509		"Ankyrin repeat domain containing"	17870	protein-coding gene	gene with protein product	"nephrocystin 2"	243305	"nephronophthisis 2 (infantile)"	NPHP2		12872123	Standard	NM_014425		Approved		uc004bap.2	Q9Y283	OTTHUMG00000020364	ENST00000262457.2:c.2634T>C	9.37:g.103055173T>C						INVS_ENST00000541287.1_Silent_p.D782D|INVS_ENST00000262456.2_Intron	p.D878D	NM_014425.3	NP_055240.2	Q9Y283	INVS_HUMAN			14	2819	+		Acute lymphoblastic leukemia(62;0.056)	878					A2A2Y2|Q2NKL0|Q5W0T6|Q8IVX8|Q9BRB9|Q9Y488|Q9Y498	Silent	SNP	ENST00000262457.2	37	c.2634T>C	CCDS6746.1																																																																																				0.527	INVS-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053407.1	NM_014425		3	56	0	0	0	1	0	3	56					C	103055173	T	C	103055173	2	2	220	1	0	0	0	0	0	0	0	1	7787	1432	50	4		4	INVS	9	103055173	Silent	SNP	T	TCGA-HC-7750-01A-11D-2114-08	2983343	103055173	38158258	19	10171											
MURC	347273	broad.mit.edu	37	chr9	103348314	103348314	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acagaattagaactagaataGtgaccccggagaggagagag	17	5	13	6	1	0	6	0	1	0	5	0	9	0	7	2	2	1	0	2	2	6	3			TCGA-HC-7750-01A-11D-2114-08	TCGA-HC-7750-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56f5e8ae-b53a-4a02-9e21-a2a03f384dc5	64835121-88ee-417e-b978-5e0eafc615b8	g.chr9:103348314G>T	ENST00000307584.5	+	2	741	c.676G>T	c.(676-678)Gtg>Ttg	p.V226L		NM_001018116.1	NP_001018126.1	Q5BKX8	MURC_HUMAN	muscle-related coiled-coil protein	226					cell differentiation (GO:0030154)|muscle organ development (GO:0007517)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	Z disc (GO:0030018)				endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)	16		Acute lymphoblastic leukemia(62;0.0461)				AACTAGAATAGTGACCCCGGA	0.458																																						ENST00000307584.5																			0				endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)	16						c.(676-678)Gtg>Ttg		muscle-related coiled-coil protein							110	119	116					9																	103348314		2203	4300	6503	SO:0001583	missense	347273				cell differentiation|muscle organ development|transcription, DNA-dependent			g.chr9:103348314G>T	BC090888	CCDS35083.1	9q31.1	2014-09-17			ENSG00000170681	ENSG00000170681			33742	protein-coding gene	gene with protein product	"muscle-restricted coiled-coil protein"					18508909, 18332105	Standard	NM_001018116		Approved	cavin-4, CAVIN4	uc004bba.3	Q5BKX8	OTTHUMG00000020368	ENST00000307584.5:c.676G>T	9.37:g.103348314G>T	ENSP00000418668:p.Val226Leu						p.V226L	NM_001018116.1	NP_001018126.1	Q5BKX8	MURC_HUMAN			2	741	+		Acute lymphoblastic leukemia(62;0.0461)	226					B1PRL3|B4DT88	Missense_Mutation	SNP	ENST00000307584.5	37	c.676G>T	CCDS35083.1	.	.	.	.	.	.	.	.	.	.	G	24.5	4.538705	0.85917	.	.	ENSG00000170681	ENST00000307584	T	0.64438	-0.1	5.34	5.34	0.76211	.	0.057892	0.64402	D	0.000002	T	0.72431	0.3459	M	0.73962	2.25	0.46521	D	0.99908	P	0.50943	0.94	P	0.51135	0.66	T	0.76526	-0.2927	10	0.72032	D	0.01	-16.1643	16.873	0.86044	0.0:0.0:1.0:0.0	.	226	Q5BKX8	MURC_HUMAN	L	226	ENSP00000418668:V226L	ENSP00000418668:V226L	V	+	1	0	MURC	102388135	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.975000	0.63777	2.658000	0.90341	0.561000	0.74099	GTG		0.458	MURC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053419.2	NM_001018116		5	177	1	0	2.0095e-06	1	2.19907e-06	5	177					T	103348314	G	T	103348314	3	4	220	1	0	0	0	0	1	0	0	0	9987	1029	36	5	682	5	MURC	9	103348314	Missense_Mutation	SNP	G	TCGA-HC-7750-01A-11D-2114-08	293141	103348314	37865117	20	10172											
C10orf90	118611	broad.mit.edu	37	chr10	128147783	128147783	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aggcttacgaacttccagtgCttcctatgcaaagcaaagaa	14	9	8	10	1	0	1	0	0	0	1	2	2	2	1	2	1	5	4	2	1	6	4			TCGA-HC-7750-01A-11D-2114-08	TCGA-HC-7750-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56f5e8ae-b53a-4a02-9e21-a2a03f384dc5	64835121-88ee-417e-b978-5e0eafc615b8	g.chr10:128147783C>T	ENST00000284694.7	-	6	1843	c.1723G>A	c.(1723-1725)Gca>Aca	p.A575T	C10orf90_ENST00000454341.1_Missense_Mutation_p.A478T|C10orf90_ENST00000480379.1_5'UTR|C10orf90_ENST00000544758.1_Missense_Mutation_p.A672T|C10orf90_ENST00000356858.3_Missense_Mutation_p.A528T	NM_001004298.2	NP_001004298.2	Q96M02	CJ090_HUMAN	chromosome 10 open reading frame 90	575	ALMS motif. {ECO:0000250}.				mitotic G2 DNA damage checkpoint (GO:0007095)|negative regulation of cell growth (GO:0030308)|protein stabilization (GO:0050821)|response to ionizing radiation (GO:0010212)|response to UV (GO:0009411)	actin cytoskeleton (GO:0015629)|centrosome (GO:0005813)|cytoplasm (GO:0005737)				NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(19)|liver(1)|lung(29)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	65		all_epithelial(44;4.51e-05)|all_lung(145;0.0068)|Lung NSC(174;0.0105)|Colorectal(57;0.0848)|all_neural(114;0.0936)|Breast(234;0.203)		COAD - Colon adenocarcinoma(40;0.0442)|Colorectal(40;0.0479)		ACTTCCAGTGCTTCCTATGCA	0.483																																						ENST00000284694.7																			0				NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(19)|liver(1)|lung(29)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	65						c.(1723-1725)Gca>Aca		chromosome 10 open reading frame 90							122	106	112					10																	128147783		2203	4300	6503	SO:0001583	missense	118611							g.chr10:128147783C>T	BC034828	CCDS31310.1	10q26.2	2012-05-31			ENSG00000154493	ENSG00000154493			26563	protein-coding gene	gene with protein product	"fragile-site associated tumor suppressor"					20843368, 20154723	Standard	NM_001004298		Approved	FLJ32938, bA422P15.2, FATS	uc001ljq.3	Q96M02	OTTHUMG00000019245	ENST00000284694.7:c.1723G>A	10.37:g.128147783C>T	ENSP00000284694:p.Ala575Thr					C10orf90_ENST00000544758.1_Missense_Mutation_p.A672T|C10orf90_ENST00000480379.1_5'UTR|C10orf90_ENST00000356858.3_Missense_Mutation_p.A528T|C10orf90_ENST00000454341.1_Missense_Mutation_p.A478T	p.A575T	NM_001004298.2	NP_001004298.2	Q96M02	CJ090_HUMAN		COAD - Colon adenocarcinoma(40;0.0442)|Colorectal(40;0.0479)	6	1843	-		all_epithelial(44;4.51e-05)|all_lung(145;0.0068)|Lung NSC(174;0.0105)|Colorectal(57;0.0848)|all_neural(114;0.0936)|Breast(234;0.203)	575					B9EIQ9|Q5JRP6|Q5T023|Q8NCV5|Q8WU75	Missense_Mutation	SNP	ENST00000284694.7	37	c.1723G>A	CCDS31310.1	.	.	.	.	.	.	.	.	.	.	C	16.15	3.040731	0.55003	.	.	ENSG00000154493	ENST00000356858;ENST00000284694;ENST00000454341;ENST00000544758;ENST00000432642	T;T;T;T	0.37235	1.78;1.94;1.83;1.21	4.87	4.87	0.63330	.	0.000000	0.43110	D	0.000607	T	0.58061	0.2096	M	0.65498	2.005	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.998	T	0.60372	-0.7276	10	0.62326	D	0.03	-22.3707	14.8626	0.70392	0.0:1.0:0.0:0.0	.	672;575;478	F5GZL2;Q96M02;Q96M02-2	.;CJ090_HUMAN;.	T	528;575;478;672;575	ENSP00000284694:A575T;ENSP00000398786:A478T;ENSP00000444369:A672T;ENSP00000405995:A575T	ENSP00000284694:A575T	A	-	1	0	C10orf90	128137773	1.000000	0.71417	0.911000	0.35937	0.114000	0.19823	4.770000	0.62309	2.508000	0.84585	0.655000	0.94253	GCA		0.483	C10orf90-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001004298		4	72	0	0	0	1	0	4	72					T	128147783	C	T	128147783	3	4	220	1	0	0	0	0	1	0	0	0	1623	797	28	3	392	3	C10orf90	10	128147783	Missense_Mutation	SNP	C	TCGA-HC-7750-01A-11D-2114-08		128147783	7386964	21	10173											
USP47	55031	broad.mit.edu	37	chr11	11969590	11969590	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctctcacttcaaggtctttCgagtgtatgccagcaatcaa	10	12	7	12	1	4	0	3	0	2	0	6	1	4	0	2	1	2	2	2	1	4	3	rs375838732		TCGA-HC-7750-01A-11D-2114-08	TCGA-HC-7750-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56f5e8ae-b53a-4a02-9e21-a2a03f384dc5	64835121-88ee-417e-b978-5e0eafc615b8	g.chr11:11969590C>A	ENST00000399455.2	+	22	3370	c.3250C>A	c.(3250-3252)Cga>Aga	p.R1084R	USP47_ENST00000539466.1_5'UTR|USP47_ENST00000527733.1_Silent_p.R1064R|USP47_ENST00000339865.5_Silent_p.R996R	NM_001282659.1	NP_001269588.1	Q96K76	UBP47_HUMAN	ubiquitin specific peptidase 47	1084					base-excision repair (GO:0006284)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|monoubiquitinated protein deubiquitination (GO:0035520)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of G2/M transition of mitotic cell cycle (GO:0010972)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell growth (GO:0030307)|response to drug (GO:0042493)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|SCF ubiquitin ligase complex (GO:0019005)	ubiquitin-specific protease activity (GO:0004843)|WD40-repeat domain binding (GO:0071987)	p.R996*(2)		breast(4)|endometrium(7)|kidney(2)|large_intestine(8)|liver(2)|lung(14)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	46				Epithelial(150;0.000339)		CAAGGTCTTTCGAGTGTATGC	0.398																																						ENST00000339865.5																			2	Substitution - Nonsense(2)	p.R996*(2)	large_intestine(1)|prostate(1)	breast(4)|endometrium(7)|kidney(2)|large_intestine(8)|liver(2)|lung(14)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	46						c.(2986-2988)Cga>Aga		ubiquitin specific peptidase 47		C		0,3692		0,0,1846	154	143	146		2986	5.4	1	11		146	1,8189		0,1,4094	no	coding-synonymous	USP47	NM_017944.3		0,1,5940	AA,AC,CC		0.0122,0.0,0.0084		996/1288	11969590	1,11881	1846	4095	5941	SO:0001819	synonymous_variant	55031				base-excision repair|cellular response to UV|monoubiquitinated protein deubiquitination|negative regulation of apoptosis|negative regulation of caspase activity|negative regulation of G2/M transition of mitotic cell cycle|negative regulation of transcription, DNA-dependent|positive regulation of cell growth|response to drug|ubiquitin-dependent protein catabolic process	cytoplasm|SCF ubiquitin ligase complex	ubiquitin thiolesterase activity|ubiquitin-specific protease activity|WD40-repeat domain binding	g.chr11:11969590C>A	AK027362	CCDS41619.1, CCDS60725.1	11p15.2	2008-02-05	2005-08-08		ENSG00000170242	ENSG00000170242		"Ubiquitin-specific peptidases"	20076	protein-coding gene	gene with protein product		614460	"Trf (TATA binding protein-related factor)-proximal homolog (Drosophila)", "ubiquitin specific protease 47"			12838346	Standard	XM_005252997		Approved		uc001mjr.3	Q96K76	OTTHUMG00000165685	ENST00000399455.2:c.3250C>A	11.37:g.11969590C>A						USP47_ENST00000399455.2_Silent_p.R1084R|USP47_ENST00000539466.1_5'UTR|USP47_ENST00000527733.1_Silent_p.R1064R	p.R996R	NM_017944.3	NP_060414.3	Q96K76	UBP47_HUMAN		Epithelial(150;0.000339)	20	3749	+			1084					B3KXF5|E9PM46|Q658U0|Q86Y73|Q8TEP6|Q9BWI0|Q9NWN1	Silent	SNP	ENST00000399455.2	37	c.2986C>A																																																																																					0.398	USP47-003	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000385853.2	NM_017944		3	95	1	0	1	1	1	3	95					A	11969590	C	A	11969590	2	1	220	1	0	0	0	0	0	0	0	1	17075	876	31	5		5	USP47	11	11969590	Silent	SNP	C	TCGA-HC-7750-01A-11D-2114-08		11969590	123036926	22	10174											
OR5T3	390154	broad.mit.edu	37	chr11	56020136	56020136	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aatggcttatgatcactatgTagccatctacaaccctctcc	11	12	5	13	0	3	1	1	1	2	0	4	1	3	1	3	1	3	2	3	1	6	4			TCGA-HC-7750-01A-11D-2114-08	TCGA-HC-7750-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56f5e8ae-b53a-4a02-9e21-a2a03f384dc5	64835121-88ee-417e-b978-5e0eafc615b8	g.chr11:56020136T>C	ENST00000303059.3	+	1	461	c.461T>C	c.(460-462)gTa>gCa	p.V154A		NM_001004747.1	NP_001004747.1	Q8NGG3	OR5T3_HUMAN	olfactory receptor, family 5, subfamily T, member 3	154						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(23)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	39	Esophageal squamous(21;0.00448)					GATCACTATGTAGCCATCTAC	0.423																																						ENST00000303059.3																			0				breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(23)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	39						c.(460-462)gTa>gCa		olfactory receptor, family 5, subfamily T, member 3							213	196	202					11																	56020136		2201	4295	6496	SO:0001583	missense	390154				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56020136T>C	AB065837	CCDS31524.1	11q11	2012-08-09			ENSG00000172489	ENSG00000172489		"GPCR / Class A : Olfactory receptors"	15297	protein-coding gene	gene with protein product							Standard	NM_001004747		Approved	OR5T3Q	uc010rjd.2	Q8NGG3	OTTHUMG00000166852	ENST00000303059.3:c.461T>C	11.37:g.56020136T>C	ENSP00000305403:p.Val154Ala						p.V154A	NM_001004747.1	NP_001004747.1	Q8NGG3	OR5T3_HUMAN			1	461	+	Esophageal squamous(21;0.00448)		154					Q6IFC7	Missense_Mutation	SNP	ENST00000303059.3	37	c.461T>C	CCDS31524.1	.	.	.	.	.	.	.	.	.	.	T	11.77	1.736973	0.30774	.	.	ENSG00000172489	ENST00000303059	T	0.01139	5.28	4.65	2.23	0.28157	GPCR, rhodopsin-like superfamily (1);	0.365880	0.19382	N	0.115630	T	0.01124	0.0037	L	0.39692	1.235	0.24876	N	0.992254	B	0.19706	0.038	B	0.26614	0.071	T	0.48246	-0.9052	10	0.13108	T	0.6	.	5.3026	0.15785	0.1319:0.1517:0.0:0.7164	.	154	Q8NGG3	OR5T3_HUMAN	A	154	ENSP00000305403:V154A	ENSP00000305403:V154A	V	+	2	0	OR5T3	55776712	0.293000	0.24371	0.913000	0.36048	0.795000	0.44927	2.290000	0.43531	0.344000	0.23847	0.523000	0.50628	GTA		0.423	OR5T3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391599.1	NM_001004747		7	173	0	0	0	1	0	7	173					C	56020136	T	C	56020136	3	2	220	1	0	0	0	0	1	0	0	0	11183	1638	57	4	463	4	OR5T3	11	56020136	Missense_Mutation	SNP	T	TCGA-HC-7750-01A-11D-2114-08	44050546	56020136	78986380	23	10175											
OTUB1	55611	broad.mit.edu	37	chr11	63764357	63764357	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ctgtgtctgccaagagcaagGaagacctggtgtcccagggc	9	7	14	11	0	1	2	0	0	1	2	2	3	2	3	3	3	2	1	3	3	3	0			TCGA-HC-7750-01A-11D-2114-08	TCGA-HC-7750-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56f5e8ae-b53a-4a02-9e21-a2a03f384dc5	64835121-88ee-417e-b978-5e0eafc615b8	g.chr11:63764357G>T	ENST00000538426.1	+	5	411	c.367G>T	c.(367-369)Gaa>Taa	p.E123*	OTUB1_ENST00000543004.1_Nonsense_Mutation_p.E132*|OTUB1_ENST00000543988.1_Nonsense_Mutation_p.E93*|OTUB1_ENST00000428192.2_Nonsense_Mutation_p.E123*|OTUB1_ENST00000422031.2_Nonsense_Mutation_p.E160*|OTUB1_ENST00000535715.1_Nonsense_Mutation_p.E123*|OTUB1_ENST00000541478.1_Intron	NM_017670.2	NP_060140.2	Q96FW1	OTUB1_HUMAN	OTU deubiquitinase, ubiquitin aldehyde binding 1	123	OTU. {ECO:0000255|PROSITE- ProRule:PRU00139}.				cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|immune system process (GO:0002376)|negative regulation of double-strand break repair (GO:2000780)|negative regulation of histone H2A K63-linked ubiquitination (GO:1901315)|protein K48-linked deubiquitination (GO:0071108)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	NEDD8-specific protease activity (GO:0019784)|omega peptidase activity (GO:0008242)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-specific protease activity (GO:0004843)			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)	6						CAAGAGCAAGGAAGACCTGGT	0.622																																						ENST00000538426.1																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)	6						c.(367-369)Gaa>Taa		OTU domain, ubiquitin aldehyde binding 1							75	65	68					11																	63764357		2201	4297	6498	SO:0001587	stop_gained	55611				protein K48-linked deubiquitination	cytoplasm	NEDD8-specific protease activity|omega peptidase activity|ubiquitin binding|ubiquitin-specific protease activity	g.chr11:63764357G>T	AY177200	CCDS8055.1	11q13.1	2014-02-24	2014-02-24			ENSG00000167770		"OTU domain containing"	23077	protein-coding gene	gene with protein product		608337	"OTU domain, ubiquitin aldehyde binding 1"			12704427, 19383985	Standard	NM_017670		Approved	FLJ20113, FLJ40710	uc001nyf.1	Q96FW1		ENST00000538426.1:c.367G>T	11.37:g.63764357G>T	ENSP00000444357:p.Glu123*					OTUB1_ENST00000543988.1_Nonsense_Mutation_p.E93*|OTUB1_ENST00000535715.1_Nonsense_Mutation_p.E123*|OTUB1_ENST00000422031.2_Nonsense_Mutation_p.E160*|OTUB1_ENST00000543004.1_Nonsense_Mutation_p.E132*|OTUB1_ENST00000541478.1_Intron|OTUB1_ENST00000428192.2_Nonsense_Mutation_p.E123*	p.E123*	NM_017670.2	NP_060140.2	Q96FW1	OTUB1_HUMAN			5	411	+			123			OTU.		Q32Q78|Q96II3|Q9NXQ4|Q9P0B8	Nonsense_Mutation	SNP	ENST00000538426.1	37	c.367G>T	CCDS8055.1	.	.	.	.	.	.	.	.	.	.	G	36	5.800540	0.96960	.	.	ENSG00000167770	ENST00000535715;ENST00000428192;ENST00000422031;ENST00000538426;ENST00000543004;ENST00000543988	.	.	.	4.64	3.69	0.42338	.	0.317238	0.30060	N	0.010505	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.10111	T	0.7	.	13.7463	0.62876	0.0:0.156:0.844:0.0	.	.	.	.	X	123;123;160;123;132;93	.	ENSP00000416973:E160X	E	+	1	0	OTUB1	63520933	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.737000	0.62066	1.258000	0.44101	0.655000	0.94253	GAA		0.622	OTUB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396277.1	NM_017670		13	42	1	0	3.45872e-05	1	3.71492e-05	13	42					T	63764357	G	T	63764357	4	4	220	1	0	0	0	0	0	1	0	0	11311	1175	41	5	385	5	OTUB1	11	63764357	Nonsense_Mutation	SNP	G	TCGA-HC-7750-01A-11D-2114-08	7744221	63764357	71242159	24	10176											
KIAA0564	23078	broad.mit.edu	37	chr13	42404698	42404698	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttcatcagacagttgcagcTcctcctttaaacgcatatac	11	12	6	12	1	2	1	2	0	0	1	4	1	4	1	2	0	4	5	2	0	4	6			TCGA-HC-7750-01A-11D-2114-08	TCGA-HC-7750-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56f5e8ae-b53a-4a02-9e21-a2a03f384dc5	64835121-88ee-417e-b978-5e0eafc615b8	g.chr13:42404698T>G	ENST00000379310.3	-	14	1735	c.1667A>C	c.(1666-1668)gAg>gCg	p.E556A	VWA8_ENST00000281496.6_Missense_Mutation_p.E556A	NM_015058.1	NP_055873.1	A3KMH1	VWA8_HUMAN	von Willebrand factor A domain containing 8	556						extracellular region (GO:0005576)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)										CAGTTGCAGCTCCTCCTTTAA	0.368																																						ENST00000379310.3																			0											c.(1666-1668)gAg>gCg		von Willebrand factor A domain containing 8							119	115	117					13																	42404698		2203	4300	6503	SO:0001583	missense	23078							g.chr13:42404698T>G	AB011136	CCDS31963.1, CCDS41881.1	13q14.11	2013-11-18	2012-08-02	2012-08-02	ENSG00000102763	ENSG00000102763			29071	protein-coding gene	gene with protein product			"KIAA0564"	KIAA0564		9628581	Standard	NM_015058		Approved		uc001uyj.3	A3KMH1	OTTHUMG00000016799	ENST00000379310.3:c.1667A>C	13.37:g.42404698T>G	ENSP00000368612:p.Glu556Ala					VWA8_ENST00000281496.6_Missense_Mutation_p.E556A	p.E556A	NM_015058.1	NP_055873.1					14	1735	-								O60310|Q5JTP6|Q5VW08|Q7Z6I9|Q86YC9|Q8N3E4	Missense_Mutation	SNP	ENST00000379310.3	37	c.1667A>C	CCDS41881.1	.	.	.	.	.	.	.	.	.	.	T	17.00	3.276284	0.59649	.	.	ENSG00000102763	ENST00000251030;ENST00000379310;ENST00000281496	T;T	0.54479	0.57;0.57	6.06	4.85	0.62838	ATPase, AAA+ type, core (1);ATPase, dynein-related, AAA domain (1);	0.201458	0.44097	D	0.000483	T	0.53158	0.1779	L	0.56769	1.78	0.48830	D	0.99971	B	0.26445	0.149	B	0.34590	0.186	T	0.51252	-0.8729	10	0.46703	T	0.11	.	12.4444	0.55643	0.0:0.0658:0.0:0.9342	.	556	A3KMH1	K0564_HUMAN	A	460;556;556	ENSP00000368612:E556A;ENSP00000281496:E556A	ENSP00000251030:E460A	E	-	2	0	KIAA0564	41302698	1.000000	0.71417	0.999000	0.59377	0.962000	0.63368	4.050000	0.57404	1.070000	0.40811	0.528000	0.53228	GAG		0.368	VWA8-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354828.2	NM_015058		10	47	0	0	0	1	0	10	47					G	42404698	T	G	42404698	3	3	220	1	0	0	0	0	1	0	0	0	8185	1551	54	5	4182	5	KIAA0564	13	42404698	Missense_Mutation	SNP	T	TCGA-HC-7750-01A-11D-2114-08		42404698	72765180	25	10177											
GRIN2A	2903	broad.mit.edu	37	chr16	9858484	9858484	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tacatagttattgaggttatCcttctgccggttggccacaa	9	14	9	9	1	1	1	0	1	1	0	2	1	2	1	3	3	2	3	3	3	5	7			TCGA-HC-7750-01A-11D-2114-08	TCGA-HC-7750-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56f5e8ae-b53a-4a02-9e21-a2a03f384dc5	64835121-88ee-417e-b978-5e0eafc615b8	g.chr16:9858484C>A	ENST00000396573.2	-	14	3226	c.2917G>T	c.(2917-2919)Gat>Tat	p.D973Y	GRIN2A_ENST00000562109.1_Missense_Mutation_p.D973Y|GRIN2A_ENST00000535259.1_Missense_Mutation_p.D816Y|GRIN2A_ENST00000396575.2_Missense_Mutation_p.D973Y|GRIN2A_ENST00000404927.2_Missense_Mutation_p.D973Y|GRIN2A_ENST00000330684.3_Missense_Mutation_p.D973Y	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	973					directional locomotion (GO:0033058)|dopamine metabolic process (GO:0042417)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning or memory (GO:0007611)|memory (GO:0007613)|negative regulation of protein catabolic process (GO:0042177)|neurogenesis (GO:0022008)|positive regulation of apoptotic process (GO:0043065)|protein localization (GO:0008104)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic plasticity (GO:0048167)|response to amphetamine (GO:0001975)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to wounding (GO:0009611)|sensory perception of pain (GO:0019233)|serotonin metabolic process (GO:0042428)|sleep (GO:0030431)|startle response (GO:0001964)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)|visual learning (GO:0008542)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Glycine(DB00145)|Halothane(DB01159)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	TTGAGGTTATCCTTCTGCCGG	0.463																																						ENST00000396573.2																			0				NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198						c.(2917-2919)Gat>Tat		glutamate receptor, ionotropic, N-methyl D-aspartate 2A	Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)						151	130	137					16																	9858484		2197	4300	6497	SO:0001583	missense	0				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	g.chr16:9858484C>A		CCDS10539.1, CCDS45407.1	16p13.2	2012-08-29			ENSG00000183454	ENSG00000183454		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4585	protein-coding gene	gene with protein product		138253		NMDAR2A		9480759	Standard	XM_005255267		Approved	GluN2A	uc002czo.4	Q12879	OTTHUMG00000129721	ENST00000396573.2:c.2917G>T	16.37:g.9858484C>A	ENSP00000379818:p.Asp973Tyr					GRIN2A_ENST00000404927.2_Missense_Mutation_p.D973Y|GRIN2A_ENST00000562109.1_Missense_Mutation_p.D973Y|GRIN2A_ENST00000535259.1_Missense_Mutation_p.D816Y|GRIN2A_ENST00000330684.3_Missense_Mutation_p.D973Y|GRIN2A_ENST00000396575.2_Missense_Mutation_p.D973Y	p.D973Y	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN			14	3226	-			973					O00669|Q17RZ6	Missense_Mutation	SNP	ENST00000396573.2	37	c.2917G>T	CCDS10539.1	.	.	.	.	.	.	.	.	.	.	C	17.27	3.348202	0.61183	.	.	ENSG00000183454	ENST00000396573;ENST00000404927;ENST00000535259;ENST00000330684;ENST00000396575	T;T;T;T;T	0.13538	2.59;2.58;2.59;2.59;2.59	5.33	5.33	0.75918	Glutamate [NMDA] receptor, epsilon subunit, C-terminal (1);	0.042610	0.85682	D	0.000000	T	0.37404	0.1002	M	0.68317	2.08	0.80722	D	1	D;D;D	0.89917	0.994;0.995;1.0	D;D;D	0.91635	0.956;0.961;0.999	T	0.03139	-1.1068	9	.	.	.	.	18.0263	0.89270	0.0:1.0:0.0:0.0	.	816;973;973	F5GZ52;Q17RZ6;Q12879	.;.;NMDE1_HUMAN	Y	973;973;816;973;973	ENSP00000379818:D973Y;ENSP00000385872:D973Y;ENSP00000441572:D816Y;ENSP00000332549:D973Y;ENSP00000379820:D973Y	.	D	-	1	0	GRIN2A	9765985	1.000000	0.71417	0.993000	0.49108	0.917000	0.54804	7.395000	0.79876	2.491000	0.84063	0.655000	0.94253	GAT		0.463	GRIN2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251930.3			12	74	1	0	1.08611e-07	1	1.21143e-07	12	74					A	9858484	C	A	9858484	3	1	220	1	0	0	0	0	1	0	0	0	6779	855	30	5	1481	5	GRIN2A	16	9858484	Missense_Mutation	SNP	C	TCGA-HC-7750-01A-11D-2114-08		9858484	80496269	26	10178											
MPP2	4355	broad.mit.edu	37	chr17	41957294	41957294	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tcagcctccatctccccacgGgacacaaagctgtaaccctg	10	7	7	17	1	2	0	1	0	1	0	4	1	3	1	5	1	3	2	5	1	2	1	rs368406948		TCGA-HC-7750-01A-11D-2114-08	TCGA-HC-7750-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56f5e8ae-b53a-4a02-9e21-a2a03f384dc5	64835121-88ee-417e-b978-5e0eafc615b8	g.chr17:41957294G>A	ENST00000461854.1	-	12	1366	c.1281C>T	c.(1279-1281)tcC>tcT	p.S427S	MPP2_ENST00000523501.1_Silent_p.S392S|MPP2_ENST00000473246.1_5'Flank|MPP2_ENST00000518766.1_Silent_p.S448S|MPP2_ENST00000269095.4_Silent_p.S403S|MPP2_ENST00000520305.1_Silent_p.S264S|MPP2_ENST00000377184.3_Silent_p.S420S|MPP2_ENST00000536246.1_Silent_p.S392S			Q14168	MPP2_HUMAN	membrane protein, palmitoylated 2 (MAGUK p55 subfamily member 2)	427	Guanylate kinase-like. {ECO:0000255|PROSITE-ProRule:PRU00100}.				nucleotide phosphorylation (GO:0046939)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	guanylate kinase activity (GO:0004385)			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|liver(1)|lung(4)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)	29		Breast(137;0.00314)		BRCA - Breast invasive adenocarcinoma(366;0.12)		TCTCCCCACGGGACACAAAGC	0.627											OREG0024443	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000269095.4																			0				breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|liver(1)|lung(4)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)	29						c.(1207-1209)tcC>tcT		membrane protein, palmitoylated 2 (MAGUK p55 subfamily member 2)		G		1,4405	2.1+/-5.4	0,1,2202	176	118	137		1209	-1.6	1	17		137	0,8600		0,0,4300	no	coding-synonymous	MPP2	NM_005374.3		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		403/553	41957294	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	4355				signal transduction	cell surface|integral to plasma membrane|membrane fraction	guanylate kinase activity	g.chr17:41957294G>A		CCDS11471.1, CCDS62206.1, CCDS62207.1, CCDS62208.1, CCDS62209.1, CCDS62210.1	17q12-q21	2008-07-18			ENSG00000108852	ENSG00000108852			7220	protein-coding gene	gene with protein product	"MAGUK p55 subfamily member 2", "discs large, homolog 2"	600723		DLG2		7590743	Standard	NM_001278370		Approved	DKFZp761D0712	uc002ieo.1	Q14168	OTTHUMG00000133840	ENST00000461854.1:c.1281C>T	17.37:g.41957294G>A			OREG0024443	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	905	MPP2_ENST00000536246.1_Silent_p.S392S|MPP2_ENST00000518766.1_Silent_p.S448S|MPP2_ENST00000520305.1_Silent_p.S264S|MPP2_ENST00000461854.1_Silent_p.S427S|MPP2_ENST00000377184.3_Silent_p.S420S|MPP2_ENST00000523501.1_Silent_p.S392S	p.S403S	NM_001278370.1|NM_001278381.1|NM_005374.3	NP_001265299.1|NP_001265310.1|NP_005365.3	Q14168	MPP2_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.12)	11	1513	-		Breast(137;0.00314)	427			Guanylate kinase-like.		B4DGE9|B4DRJ0|B7Z3G8|E7EV80|E7EV91|E7EX01|Q53ES9|Q5CZB9|Q9BQJ2	Silent	SNP	ENST00000461854.1	37	c.1209C>T																																																																																					0.627	MPP2-003	KNOWN	non_canonical_polymorphism|basic	protein_coding	protein_coding	OTTHUMT00000258388.2	NM_005374		3	114	0	0	0	1	0	3	114					A	41957294	G	A	41957294	2	1	220	1	0	0	0	0	0	0	0	1	9734	1219	43	3		3	MPP2	17	41957294	Silent	SNP	G	TCGA-HC-7750-01A-11D-2114-08		41957294	39237916	27	10179											
RAB37	326624	broad.mit.edu	37	chr17	72741504	72741504	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cagcttccagatccgagactAtgtagagtcccagaagaagc	13	7	10	11	1	0	5	0	0	0	5	3	6	3	5	3	0	2	2	3	0	4	3			TCGA-HC-7750-01A-11D-2114-08	TCGA-HC-7750-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56f5e8ae-b53a-4a02-9e21-a2a03f384dc5	64835121-88ee-417e-b978-5e0eafc615b8	g.chr17:72741504A>G	ENST00000392613.5	+	9	682	c.626A>G	c.(625-627)tAt>tGt	p.Y209C	RAB37_ENST00000402449.4_Missense_Mutation_p.Y202C|RAB37_ENST00000392615.5_Missense_Mutation_p.Y177C|RAB37_ENST00000528438.1_Missense_Mutation_p.Y182C|RAB37_ENST00000392612.3_Missense_Mutation_p.Y172C|RAB37_ENST00000392610.1_3'UTR|MIR3615_ENST00000585285.1_RNA|RAB37_ENST00000340415.3_3'UTR|RAB37_ENST00000392614.4_Missense_Mutation_p.Y214C	NM_001006638.2	NP_001006639.1	Q96AX2	RAB37_HUMAN	RAB37, member RAS oncogene family	209					protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|secretory granule (GO:0030141)	GTP binding (GO:0005525)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	12						ATCCGAGACTATGTAGAGTCC	0.612																																						ENST00000392614.4																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	12						c.(640-642)tAt>tGt		RAB37, member RAS oncogene family							51	53	53					17																	72741504		2203	4300	6503	SO:0001583	missense	326624				protein transport|small GTPase mediated signal transduction	ER-Golgi intermediate compartment	GTP binding	g.chr17:72741504A>G	BC040547	CCDS11703.1, CCDS32722.1, CCDS54161.1, CCDS54162.1	17q25.2	2008-02-05			ENSG00000172794	ENSG00000172794		"RAB, member RAS oncogene"	30268	protein-coding gene	gene with protein product		609956				10722846	Standard	NM_175738		Approved		uc002jlk.3	Q96AX2	OTTHUMG00000134282	ENST00000392613.5:c.626A>G	17.37:g.72741504A>G	ENSP00000376389:p.Tyr209Cys					RAB37_ENST00000392612.3_Missense_Mutation_p.Y172C|RAB37_ENST00000392613.5_Missense_Mutation_p.Y209C|RAB37_ENST00000340415.3_3'UTR|RAB37_ENST00000528438.1_Missense_Mutation_p.Y182C|RAB37_ENST00000392615.5_Missense_Mutation_p.Y177C|RAB37_ENST00000402449.4_Missense_Mutation_p.Y202C|RAB37_ENST00000392610.1_3'UTR	p.Y214C	NM_001163989.1	NP_001157461.1	Q96AX2	RAB37_HUMAN			9	734	+			209					A8MXF5|A8MYT0|Q8IWA7	Missense_Mutation	SNP	ENST00000392613.5	37	c.641A>G	CCDS32722.1	.	.	.	.	.	.	.	.	.	.	A	17.35	3.368141	0.61513	.	.	ENSG00000172794	ENST00000402449;ENST00000469248;ENST00000528438;ENST00000392615;ENST00000392614;ENST00000392613;ENST00000392612	T;T;T;T;T;T	0.62941	0.02;-0.0;0.37;-0.01;0.02;0.37	5.25	2.93	0.34026	.	0.066384	0.64402	D	0.000007	T	0.63355	0.2504	L	0.29908	0.895	0.80722	D	1	D;D;D;D;D	0.89917	0.997;1.0;0.998;0.999;0.984	P;D;P;D;P	0.70227	0.882;0.968;0.896;0.967;0.713	T	0.58956	-0.7544	10	0.41790	T	0.15	.	7.5457	0.27766	0.7112:0.141:0.0:0.1478	.	172;177;214;202;209	A8MXF5;A8MZI4;A8MYT0;Q96AX2-2;Q96AX2	.;.;.;.;RAB37_HUMAN	C	202;202;182;177;214;209;172	ENSP00000383934:Y202C;ENSP00000432086:Y182C;ENSP00000376391:Y177C;ENSP00000376390:Y214C;ENSP00000376389:Y209C;ENSP00000376388:Y172C	ENSP00000376388:Y172C	Y	+	2	0	RAB37	70253099	1.000000	0.71417	0.584000	0.28653	0.983000	0.72400	6.812000	0.75226	0.345000	0.23873	0.533000	0.62120	TAT		0.612	RAB37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258872.2	NM_175738		4	109	0	0	0	1	0	4	109					G	72741504	A	G	72741504	3	3	220	1	0	0	0	0	1	0	0	0	12927	449	16	4	963	4	RAB37	17	72741504	Missense_Mutation	SNP	A	TCGA-HC-7750-01A-11D-2114-08	30784210	72741504	8453706	28	10180											
VAPA	9218	broad.mit.edu	37	chr18	9936196	9936196	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttgctccaccaaacacttcaGatatggaagctgtggtaagt	12	11	9	9	0	1	1	1	0	0	1	2	2	2	2	2	2	3	3	2	2	4	4			TCGA-HC-7750-01A-11D-2114-08	TCGA-HC-7750-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56f5e8ae-b53a-4a02-9e21-a2a03f384dc5	64835121-88ee-417e-b978-5e0eafc615b8	g.chr18:9936196G>C	ENST00000400000.2	+	3	577	c.322G>C	c.(322-324)Gat>Cat	p.D108H	VAPA_ENST00000340541.4_Missense_Mutation_p.D108H|VAPA_ENST00000584796.1_3'UTR	NM_003574.5|NM_194434.2	NP_003565.4|NP_919415.2	Q9P0L0	VAPA_HUMAN	VAMP (vesicle-associated membrane protein)-associated protein A, 33kDa	108	MSP. {ECO:0000255|PROSITE- ProRule:PRU00132}.				cell death (GO:0008219)|membrane fusion (GO:0061025)|neuron projection development (GO:0031175)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|protein localization to endoplasmic reticulum (GO:0070972)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|microtubule cytoskeleton (GO:0015630)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	protein heterodimerization activity (GO:0046982)|signal transducer activity (GO:0004871)|structural molecule activity (GO:0005198)			breast(1)|lung(2)|prostate(1)	4						AAACACTTCAGATATGGAAGC	0.348																																						ENST00000400000.2																			0				breast(1)|lung(2)|prostate(1)	4						c.(322-324)Gat>Cat		VAMP (vesicle-associated membrane protein)-associated protein A, 33kDa							86	84	84					18																	9936196		1882	4150	6032	SO:0001583	missense	9218				cell death|cellular membrane fusion|neuron projection development|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein localization in endoplasmic reticulum|sphingolipid metabolic process	endoplasmic reticulum membrane|integral to membrane|plasma membrane|vesicle	protein heterodimerization activity|signal transducer activity|structural molecule activity	g.chr18:9936196G>C		CCDS11847.2, CCDS11848.2	18p11.2	2008-07-28	2002-08-29		ENSG00000101558	ENSG00000101558			12648	protein-coding gene	gene with protein product		605703	"VAMP (vesicle-associated membrane protein)-associated protein A (33kD)"			9920726, 9657962	Standard	NM_003574		Approved	hVAP-33, VAP-A	uc002koj.3	Q9P0L0	OTTHUMG00000131603	ENST00000400000.2:c.322G>C	18.37:g.9936196G>C	ENSP00000382880:p.Asp108His					VAPA_ENST00000340541.4_Missense_Mutation_p.D108H|VAPA_ENST00000584796.1_3'UTR	p.D108H	NM_003574.5|NM_194434.2	NP_003565.4|NP_919415.2	Q9P0L0	VAPA_HUMAN			3	577	+			108			MSP.		A6NDZ0|D3DUI3|O75453|Q5U0E7|Q9UBZ2	Missense_Mutation	SNP	ENST00000400000.2	37	c.322G>C	CCDS11848.2	.	.	.	.	.	.	.	.	.	.	G	27.9	4.869648	0.91587	.	.	ENSG00000101558	ENST00000340541;ENST00000400000	T;T	0.73681	-0.77;-0.77	5.51	5.51	0.81932	PapD-like (2);	0.000000	0.85682	D	0.000000	D	0.90007	0.6880	M	0.92507	3.315	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.91494	0.5214	9	.	.	.	-17.088	19.7866	0.96442	0.0:0.0:1.0:0.0	.	108;108	Q9P0L0;Q9P0L0-2	VAPA_HUMAN;.	H	108	ENSP00000345656:D108H;ENSP00000382880:D108H	.	D	+	1	0	VAPA	9926196	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.837000	0.99465	2.756000	0.94617	0.655000	0.94253	GAT		0.348	VAPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254490.1			4	107	0	0	0	1	0	4	107					C	9936196	G	C	9936196	3	2	220	1	0	0	0	0	1	0	0	0	17118	942	33	5	332	5	VAPA	18	9936196	Missense_Mutation	SNP	G	TCGA-HC-7750-01A-11D-2114-08		9936196	68141052	29	10181											
PRX	57716	broad.mit.edu	37	chr19	40903197	40903197	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ctaaggcggggcatcttcagGgccacctcaggtgcctctcc	6	8	12	15	1	4	0	2	0	2	0	5	0	4	0	4	5	1	1	4	5	1	2			TCGA-HC-7750-01A-11D-2114-08	TCGA-HC-7750-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56f5e8ae-b53a-4a02-9e21-a2a03f384dc5	64835121-88ee-417e-b978-5e0eafc615b8	g.chr19:40903197G>A	ENST00000324001.7	-	7	1332	c.1062C>T	c.(1060-1062)gcC>gcT	p.A354A	PRX_ENST00000291825.7_3'UTR	NM_181882.2	NP_870998.2	Q9BXM0	PRAX_HUMAN	periaxin	354					axon ensheathment (GO:0008366)|cell death (GO:0008219)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9)	47			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			GCATCTTCAGGGCCACCTCAG	0.642																																						ENST00000324001.7																			0				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9)	47						c.(1060-1062)gcC>gcT		periaxin							30	34	33					19																	40903197		2197	4290	6487	SO:0001819	synonymous_variant	57716				axon ensheathment	cytoplasm|nucleus|plasma membrane	protein binding	g.chr19:40903197G>A	AB046840	CCDS12556.1, CCDS33028.1	19q13.2	2014-09-17				ENSG00000105227			13797	protein-coding gene	gene with protein product		605725				10839370, 9143514	Standard	NM_181882		Approved	KIAA1620	uc002onr.3	Q9BXM0		ENST00000324001.7:c.1062C>T	19.37:g.40903197G>A						PRX_ENST00000291825.7_3'UTR	p.A354A	NM_181882.2	NP_870998.2	Q9BXM0	PRAX_HUMAN	Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)		7	1332	-			354					Q9BXL9|Q9HCF2	Silent	SNP	ENST00000324001.7	37	c.1062C>T	CCDS33028.1																																																																																				0.642	PRX-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000462582.1	NM_020956		3	70	0	0	0	1	0	3	70					A	40903197	G	A	40903197	2	1	220	1	0	0	0	0	0	0	0	1	12642	1219	43	3		3	PRX	19	40903197	Silent	SNP	G	TCGA-HC-7750-01A-11D-2114-08		40903197	18225786	30	10182											
ZNF578	147660	broad.mit.edu	37	chr19	53014565	53014565	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gccatcgtagatgtcacactGgtgagaaaccttacaagtgt	12	10	10	9	1	1	2	1	1	0	2	2	3	1	2	2	1	2	1	2	1	4	2			TCGA-HC-7750-01A-11D-2114-08	TCGA-HC-7750-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56f5e8ae-b53a-4a02-9e21-a2a03f384dc5	64835121-88ee-417e-b978-5e0eafc615b8	g.chr19:53014565G>A	ENST00000421239.2	+	6	1175	c.931G>A	c.(931-933)Ggt>Agt	p.G311S	CTD-3099C6.5_ENST00000599143.1_RNA	NM_001099694.1	NP_001093164.1	Q96N58	ZN578_HUMAN	zinc finger protein 578	311					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)								GBM - Glioblastoma multiforme(134;0.00819)|OV - Ovarian serous cystadenocarcinoma(262;0.01)		ATGTCACACTGGTGAGAAACC	0.418																																						ENST00000421239.2																			0											c.(931-933)Ggt>Agt		zinc finger protein 578							104	107	106					19																	53014565		2203	4300	6503	SO:0001583	missense	147660				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53014565G>A	AK095562	CCDS54310.1	19q13.41	2013-09-20			ENSG00000258405	ENSG00000258405		"Zinc fingers, C2H2-type", "-"	26449	protein-coding gene	gene with protein product							Standard	NM_001099694		Approved	FLJ31384	uc002pzp.4	Q96N58	OTTHUMG00000156468	ENST00000421239.2:c.931G>A	19.37:g.53014565G>A	ENSP00000459216:p.Gly311Ser					CTD-3099C6.5_ENST00000599143.1_RNA	p.G311S	NM_001099694.1	NP_001093164.1	Q96N58	ZN578_HUMAN		GBM - Glioblastoma multiforme(134;0.00819)|OV - Ovarian serous cystadenocarcinoma(262;0.01)	6	1175	+			86					B4DR51|I3L1Y6	Missense_Mutation	SNP	ENST00000421239.2	37	c.931G>A	CCDS54310.1	.	.	.	.	.	.	.	.	.	.	-	16.30	3.084506	0.55861	.	.	ENSG00000258405	ENST00000553364	.	.	.	1.37	1.37	0.22104	.	.	.	.	.	T	0.26048	0.0635	L	0.41492	1.28	0.22827	N	0.998689	P	0.37708	0.606	B	0.37833	0.259	T	0.12218	-1.0556	7	.	.	.	.	5.0884	0.14694	0.2005:0.0:0.7995:0.0	.	311	G3V4F6	.	S	311	.	.	G	+	1	0	ZNF578	57706377	0.608000	0.26966	0.249000	0.24280	0.125000	0.20455	3.734000	0.55037	0.767000	0.33267	0.297000	0.19635	GGT		0.418	ZNF578-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344298.3	NM_152472		3	84	0	0	0	1	0	3	84					A	53014565	G	A	53014565	3	1	220	1	0	0	0	0	1	0	0	0	18007	1348	47	3	941	3	ZNF578	19	53014565	Missense_Mutation	SNP	G	TCGA-HC-7750-01A-11D-2114-08	12111368	53014565	6114418	31	10183											
OSCAR	126014	broad.mit.edu	37	chr19	54600296	54600296	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagctcggaggacacatcccGgaagagaaggggagcgatct	12	4	15	10	3	1	1	0	0	1	1	3	7	2	5	1	5	2	1	1	5	2	0			TCGA-HC-7750-01A-11D-2114-08	TCGA-HC-7750-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56f5e8ae-b53a-4a02-9e21-a2a03f384dc5	64835121-88ee-417e-b978-5e0eafc615b8	g.chr19:54600296G>A	ENST00000284648.6	-	4	423	c.226C>T	c.(226-228)Cgg>Tgg	p.R76W	OSCAR_ENST00000391760.1_Intron|OSCAR_ENST00000359649.4_Missense_Mutation_p.R80W|OSCAR_ENST00000356532.3_Missense_Mutation_p.R80W|OSCAR_ENST00000358375.4_Missense_Mutation_p.R76W|OSCAR_ENST00000351806.4_Missense_Mutation_p.R65W|OSCAR_ENST00000391761.1_Missense_Mutation_p.R65W			Q8IYS5	OSCAR_HUMAN	osteoclast associated, immunoglobulin-like receptor	76	Ig-like 1.					extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				large_intestine(1)|skin(1)	2	all_cancers(19;0.0128)|all_epithelial(19;0.00564)|all_lung(19;0.031)|Lung NSC(19;0.0358)|Ovarian(34;0.19)					GACACATCCCGGAAGAGAAGG	0.597																																						ENST00000284648.6																			0				large_intestine(1)|skin(1)	2						c.(226-228)Cgg>Tgg		osteoclast associated, immunoglobulin-like receptor							62	63	63					19																	54600296		2203	4300	6503	SO:0001583	missense	126014					extracellular region|integral to membrane|plasma membrane	receptor activity	g.chr19:54600296G>A	AK130199	CCDS12873.1, CCDS12874.1, CCDS12875.1, CCDS12876.1, CCDS62789.1, CCDS74444.1	19q13.42	2013-01-29			ENSG00000170909	ENSG00000170909		"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	29960	protein-coding gene	gene with protein product		606862				11805147	Standard	NM_206818		Approved		uc002qda.3	Q8IYS5	OTTHUMG00000064966	ENST00000284648.6:c.226C>T	19.37:g.54600296G>A	ENSP00000365808:p.Arg76Trp					OSCAR_ENST00000358375.4_Missense_Mutation_p.R76W|OSCAR_ENST00000391760.1_Intron|OSCAR_ENST00000356532.3_Missense_Mutation_p.R80W|OSCAR_ENST00000391761.1_Missense_Mutation_p.R65W|OSCAR_ENST00000359649.4_Missense_Mutation_p.R80W|OSCAR_ENST00000351806.4_Missense_Mutation_p.R65W	p.R76W			Q8IYS5	OSCAR_HUMAN			4	423	-	all_cancers(19;0.0128)|all_epithelial(19;0.00564)|all_lung(19;0.031)|Lung NSC(19;0.0358)|Ovarian(34;0.19)		76			Ig-like 1.		B7WNS2|Q5GRG5|Q8N763|Q8NHL4|Q8WXQ0|Q8WXQ1|Q8WXQ2	Missense_Mutation	SNP	ENST00000284648.6	37	c.226C>T		.	.	.	.	.	.	.	.	.	.	G	6.940	0.543183	0.13250	.	.	ENSG00000170909	ENST00000391761;ENST00000356532;ENST00000359649;ENST00000358375;ENST00000351806;ENST00000284648	T;T;T;T;T;T	0.00801	5.68;5.68;5.68;5.68;5.68;5.68	4.05	2.97	0.34412	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	0.419650	0.17514	U	0.171493	T	0.03263	0.0095	L	0.52823	1.66	0.19945	N	0.999942	P;D;B;D;B;P	0.89917	0.854;0.999;0.39;1.0;0.187;0.594	B;D;B;D;B;B	0.74674	0.138;0.968;0.179;0.984;0.058;0.167	T	0.32666	-0.9898	10	0.72032	D	0.01	.	9.1666	0.37054	0.0:0.0:0.7817:0.2183	.	76;65;65;80;76;80	Q8IYS5;Q8IYS5-4;Q8IYS5-6;Q8IYS5-7;Q8IYS5-2;Q8IYS5-3	OSCAR_HUMAN;.;.;.;.;.	W	65;80;80;76;65;76	ENSP00000375641:R65W;ENSP00000348927:R80W;ENSP00000352671:R80W;ENSP00000351145:R76W;ENSP00000304523:R65W;ENSP00000365808:R76W	ENSP00000365808:R76W	R	-	1	2	OSCAR	59292108	0.010000	0.17322	0.009000	0.14445	0.200000	0.23975	1.666000	0.37460	0.800000	0.34041	0.585000	0.79938	CGG		0.597	OSCAR-001	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000139493.4	NM_133169		3	85	0	0	0	1	0	3	85					A	54600296	G	A	54600296	3	1	220	1	0	0	0	0	1	0	0	0	11285	1115	39	2	771	2	OSCAR	19	54600296	Missense_Mutation	SNP	G	TCGA-HC-7750-01A-11D-2114-08	1585731	54600296	4528687	32	10184											
ZIM2	23619	broad.mit.edu	37	chr19	57301240	57301240	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagaggaaagcctgactcacCtgggacccagcagatggcag	12	4	13	12	0	1	3	1	1	0	2	1	5	1	5	3	3	2	2	3	3	1	0	rs551616907		TCGA-HC-7750-01A-11D-2114-08	TCGA-HC-7750-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56f5e8ae-b53a-4a02-9e21-a2a03f384dc5	64835121-88ee-417e-b978-5e0eafc615b8	g.chr19:57301240C>T	ENST00000391708.3	-	9	1019	c.477G>A	c.(475-477)caG>caA	p.Q159Q	AC006115.3_ENST00000594400.1_RNA|ZIM2_ENST00000599935.1_Splice_Site_p.Q159Q|ZIM2_ENST00000221722.5_Splice_Site_p.Q159Q|ZIM2_ENST00000593711.1_Splice_Site_p.Q159Q|AC006115.3_ENST00000595954.1_RNA|AC006115.3_ENST00000597946.1_RNA|ZIM2_ENST00000601070.1_Splice_Site_p.Q159Q	NM_001146326.1|NM_001146327.1	NP_001139798.1|NP_001139799.1	Q9NZV7	ZIM2_HUMAN	zinc finger, imprinted 2	159					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(20)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0314)		CCTGACTCACCTGGGACCCAG	0.433																																						ENST00000391708.3																			0				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(20)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						c.e9+1		zinc finger, imprinted 2							73	64	67					19																	57301240		2203	4300	6503	SO:0001630	splice_region_variant	23619							g.chr19:57301240C>T	AF166122	CCDS33123.1	19q13.4	2012-10-31				ENSG00000269699		"Zinc fingers, C2H2-type"	12875	protein-coding gene	gene with protein product							Standard	NM_015363		Approved	ZNF656		Q9NZV7		ENST00000391708.3:c.477+1G>A	19.37:g.57301240C>T						ZIM2_ENST00000601070.1_Splice_Site_p.Q159_splice|AC006115.3_ENST00000597946.1_RNA|AC006115.3_ENST00000595954.1_RNA|AC006115.3_ENST00000594400.1_RNA|ZIM2_ENST00000599935.1_Splice_Site_p.Q159_splice|ZIM2_ENST00000221722.5_Splice_Site_p.Q159_splice|ZIM2_ENST00000593711.1_Splice_Site_p.Q159_splice	p.Q159_splice	NM_001146326.1|NM_001146327.1	NP_001139798.1|NP_001139799.1				GBM - Glioblastoma multiforme(193;0.0314)	9	1019	-		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)						Q2M3K1	Splice_Site	SNP	ENST00000391708.3	37	c.477_splice	CCDS33123.1																																																																																				0.433	ZIM2-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416094.2		Silent	4	20	0	0	0	1	0	4	20					T	57301240	C	T	57301240	5	4	220	1	0	0	0	0	0	0	1	0	17681	695	24	3	1122	3	ZIM2	19	57301240	Splice_Site	SNP	C	TCGA-HC-7750-01A-11D-2114-08	2700944	57301240	1827743	33	10185											
TM9SF4	9777	broad.mit.edu	37	chr20	30729618	30729618	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctggagctctactccaacCgagacagcgatgacaagaag	13	5	12	11	2	1	3	0	1	1	2	2	6	2	4	2	2	4	2	2	2	4	1	rs180689921		TCGA-HC-7750-01A-11D-2114-08	TCGA-HC-7750-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56f5e8ae-b53a-4a02-9e21-a2a03f384dc5	64835121-88ee-417e-b978-5e0eafc615b8	g.chr20:30729618C>A	ENST00000398022.2	+	5	683	c.448C>A	c.(448-450)Cga>Aga	p.R150R	TM9SF4_ENST00000217315.5_Silent_p.R133R	NM_014742.3	NP_055557.2	Q92544	TM9S4_HUMAN	transmembrane 9 superfamily protein member 4	150						integral component of membrane (GO:0016021)				central_nervous_system(2)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			CTACTCCAACCGAGACAGCGA	0.562																																						ENST00000217315.5																			0				central_nervous_system(2)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						c.(397-399)Cga>Aga		transmembrane 9 superfamily protein member 4							123	133	130					20																	30729618		2203	4300	6503	SO:0001819	synonymous_variant	9777					integral to membrane		g.chr20:30729618C>A	BC021107	CCDS13196.2	20q11.21	2004-04-19			ENSG00000101337	ENSG00000101337			30797	protein-coding gene	gene with protein product						9039502	Standard	NM_014742		Approved	KIAA0255, dJ836N17.2	uc002wxj.2	Q92544	OTTHUMG00000032206	ENST00000398022.2:c.448C>A	20.37:g.30729618C>A						TM9SF4_ENST00000398022.2_Silent_p.R150R	p.R133R			Q92544	TM9S4_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)		5	737	+			150					B0QYT7|Q9NUA3	Silent	SNP	ENST00000398022.2	37	c.397C>A	CCDS13196.2																																																																																				0.562	TM9SF4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323568.1	NM_014742		4	138	1	0	0.150653	1	0.156034	4	138					A	30729618	C	A	30729618	2	1	220	1	0	0	0	0	0	0	0	1	15977	644	23	5		5	TM9SF4	20	30729618	Silent	SNP	C	TCGA-HC-7750-01A-11D-2114-08		30729618	32295902	34	10186											
SAPS2	9701	broad.mit.edu	37	chr22	50862022	50862022	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaccaggagctctgccggctCaacacgatggacttactgct	10	8	10	13	2	2	0	1	0	1	0	2	3	2	2	2	3	6	3	2	3	3	1			TCGA-HC-7750-01A-11D-2114-08	TCGA-HC-7750-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56f5e8ae-b53a-4a02-9e21-a2a03f384dc5	64835121-88ee-417e-b978-5e0eafc615b8	g.chr22:50862022C>T	ENST00000216061.5	+	11	1474	c.1104C>T	c.(1102-1104)ctC>ctT	p.L368L	PPP6R2_ENST00000395744.3_Silent_p.L368L|PPP6R2_ENST00000359139.3_Silent_p.L368L|PPP6R2_ENST00000395741.3_Silent_p.L369L			O75170	PP6R2_HUMAN	protein phosphatase 6, regulatory subunit 2	368						cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(6)|ovary(2)|skin(1)|urinary_tract(1)	22						TCTGCCGGCTCAACACGATGG	0.627																																						ENST00000359139.3																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(6)|ovary(2)|skin(1)|urinary_tract(1)	22						c.(1102-1104)ctC>ctT		protein phosphatase 6, regulatory subunit 2							87	67	74					22																	50862022		2203	4300	6503	SO:0001819	synonymous_variant	9701					cytoplasm|intracellular membrane-bounded organelle	protein binding	g.chr22:50862022C>T	AB014585	CCDS33681.1, CCDS56235.1, CCDS56236.1, CCDS74881.1	22q13.33	2012-04-17	2010-06-28	2010-06-28	ENSG00000100239	ENSG00000100239		"Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits"	19253	protein-coding gene	gene with protein product		610877	"KIAA0685", "SAPS domain family, member 2"	KIAA0685, SAPS2		16769727	Standard	NM_014678		Approved	dJ579N16.1, SAP190	uc003blc.3	O75170	OTTHUMG00000150199	ENST00000216061.5:c.1104C>T	22.37:g.50862022C>T						PPP6R2_ENST00000216061.5_Silent_p.L368L|PPP6R2_ENST00000395741.3_Silent_p.L369L|PPP6R2_ENST00000395744.3_Silent_p.L368L	p.L368L	NM_001242898.1|NM_001242899.1|NM_001242900.1|NM_014678.4	NP_001229827.1|NP_001229828.1|NP_001229829.1|NP_055493.2	O75170	PP6R2_HUMAN			10	1498	+			368					A6PVG3|B7Z7T3|Q5U5P3|Q7Z2L2|Q7Z5G5|Q7Z731|Q9UGB9	Silent	SNP	ENST00000216061.5	37	c.1104C>T																																																																																					0.627	PPP6R2-004	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000316809.1	NM_014678		4	45	0	0	0	1	0	4	45					T	50862022	C	T	50862022	2	4	220	1	0	0	0	0	0	0	0	1	13837	813	29	3		3	SAPS2	22	50862022	Silent	SNP	C	TCGA-HC-7750-01A-11D-2114-08		50862022	442544	35	10187											
MORF4L2	9643	broad.mit.edu	37	chrX	102931635	102931635	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcctcctcactttcaacagtGgggtctgcccgggccctttt	4	12	10	15	1	3	0	2	0	1	0	4	0	4	0	4	3	2	0	4	3	1	3			TCGA-HC-7750-01A-11D-2114-08	TCGA-HC-7750-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56f5e8ae-b53a-4a02-9e21-a2a03f384dc5	64835121-88ee-417e-b978-5e0eafc615b8	g.chrX:102931635G>A	ENST00000441076.2	-	4	625	c.321C>T	c.(319-321)ccC>ccT	p.P107P	MORF4L2_ENST00000492116.1_5'UTR|MORF4L2_ENST00000451301.1_Silent_p.P107P|MORF4L2_ENST00000423833.2_Silent_p.P107P|MORF4L2_ENST00000422154.2_Silent_p.P107P|MORF4L2_ENST00000433176.2_Silent_p.P107P|MORF4L2_ENST00000360458.1_Silent_p.P107P	NM_001142419.1|NM_012286.2	NP_001135891.1|NP_036418.1	Q15014	MO4L2_HUMAN	mortality factor 4 like 2	107					chromatin modification (GO:0016568)|chromatin organization (GO:0006325)|DNA repair (GO:0006281)|positive regulation of striated muscle cell differentiation (GO:0051155)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of growth (GO:0040008)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)	13						TTTCAACAGTGGGGTCTGCCC	0.493																																						ENST00000423833.2																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)	13						c.(319-321)ccC>ccT		mortality factor 4 like 2							81	92	88					X																	102931635		2201	4300	6501	SO:0001819	synonymous_variant	9643				chromatin modification|DNA repair|regulation of cell growth|transcription, DNA-dependent	nucleolus	protein binding	g.chrX:102931635G>A	AF100620	CCDS14512.1	Xq22	2010-11-24			ENSG00000123562	ENSG00000123562			16849	protein-coding gene	gene with protein product	"MORF-related gene X"	300409				9891081, 7584026	Standard	NM_012286		Approved	KIAA0026, MRGX	uc011msa.2	Q15014	OTTHUMG00000022104	ENST00000441076.2:c.321C>T	X.37:g.102931635G>A						MORF4L2_ENST00000360458.1_Silent_p.P107P|MORF4L2_ENST00000422154.2_Silent_p.P107P|MORF4L2_ENST00000441076.2_Silent_p.P107P|MORF4L2_ENST00000433176.2_Silent_p.P107P|MORF4L2_ENST00000451301.1_Silent_p.P107P|MORF4L2_ENST00000372620.1_5'UTR|MORF4L2_ENST00000492116.1_5'UTR	p.P107P			Q15014	MO4L2_HUMAN			3	1546	-			107					B3KP92|D3DXA5|Q567V0|Q8J026	Silent	SNP	ENST00000441076.2	37	c.321C>T	CCDS14512.1																																																																																				0.493	MORF4L2-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057732.1	NM_012286		4	81	0	0	0	1	0	4	81					A	102931635	G	A	102931635	2	1	220	1	0	0	0	0	0	0	0	1	9707	1335	47	3		3	MORF4L2	23	102931635	Silent	SNP	G	TCGA-HC-7750-01A-11D-2114-08		102931635	52338925	36	10188											
AMMECR1	9949	broad.mit.edu	37	chrX	109561058	109561060	+	In_Frame_Del	DEL	CCG	CCG	-																															gtggcgacagggcgatccccCcgccgccgccgccgcagccc																										TCGA-HC-7750-01A-11D-2114-08	TCGA-HC-7750-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56f5e8ae-b53a-4a02-9e21-a2a03f384dc5	64835121-88ee-417e-b978-5e0eafc615b8	g.chrX:109561058_109561060delCCG	ENST00000262844.5	-	1	407_409	c.240_242delCGG	c.(238-243)ggcggg>ggg	p.80_81GG>G	AMMECR1_ENST00000372057.1_5'UTR|AMMECR1_ENST00000372059.2_In_Frame_Del_p.80_81GG>G|AMMECR1_ENST00000496695.1_5'Flank	NM_015365.2	NP_056180.1	Q9Y4X0	AMMR1_HUMAN	Alport syndrome, mental retardation, midface hypoplasia and elliptocytosis chromosomal region gene 1	80	Gly/Ser-rich.									large_intestine(1)|lung(4)|ovary(1)|stomach(1)	7						GGCGATCCCCCCGCCGCCGCCGC	0.734																																						ENST00000262844.5																			0				large_intestine(1)|lung(4)|ovary(1)|stomach(1)	7						c.(238-243)ggg>gg		Alport syndrome, mental retardation, midface hypoplasia and elliptocytosis chromosomal region gene 1			,,	57,2761		4,39,10,1217,288					,,	4.4	1			10	122,4848		9,60,44,1818,1152	no	coding,utr-5,coding	AMMECR1	NM_015365.2,NM_001171689.1,NM_001025580.1	,,	13,99,54,3035,1440	A1A1,A1R,A1,RR,R		2.4547,2.0227,2.2984	,,	,,		179,7609				SO:0001651	inframe_deletion	9949							g.chrX:109561058_109561060delCCG	AJ007014	CCDS14551.1, CCDS35368.1, CCDS55476.1	Xq22.3	2014-06-17	2008-09-12		ENSG00000101935	ENSG00000101935			467	protein-coding gene	gene with protein product		300195				10049589, 9480748	Standard	NM_001171689		Approved		uc004eoo.3	Q9Y4X0	OTTHUMG00000022197	ENST00000262844.5:c.240_242delCGG	X.37:g.109561067_109561069delCCG	ENSP00000262844:p.Gly82del					AMMECR1_ENST00000372059.2_In_Frame_Del_p.GG80del|AMMECR1_ENST00000372057.1_5'UTR	p.GG80del	NM_015365.2	NP_056180.1	Q9Y4X0	AMER1_HUMAN			1	407_409	-			80			Gly/Ser-rich.		Q5JYV9|Q6P9D8|Q8WX22|Q9UIQ8	In_Frame_Del	DEL	ENST00000262844.5	37	c.240_242delCGG	CCDS14551.1																																																																																				0.734	AMMECR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057907.1			2	4						2	4	---	---	---	---	-	109561060	CCG	-	109561058	7	5	220	1	0	1	0	1	0	0	0	0	578	623	22	0	783	0	AMMECR1	23	109561058	In_Frame_Del	DEL	CCG	TCGA-HC-7750-01A-11D-2114-08	6629423	109561058	45709502	37	10189											
C1orf173	127254	broad.mit.edu	37	chr1	75072309	75072309	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttttaaagtattttcctggtCgtcttccaagacttcttgtc	7	19	6	9	1	2	1	0	0	2	1	6	1	4	1	2	1	0	1	2	1	4	8			TCGA-HC-7752-01A-11D-2114-08	TCGA-HC-7752-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	109ba14b-307b-4a23-b09d-643fa235d0ff	bb02213c-0f97-4cea-a808-094166184ac9	g.chr1:75072309C>T	ENST00000326665.5	-	10	1683	c.1465G>A	c.(1465-1467)Gac>Aac	p.D489N	C1orf173_ENST00000420661.2_Missense_Mutation_p.D292N|RP4-612J11.1_ENST00000416017.1_RNA	NM_001002912.4	NP_001002912.4	Q5RHP9	ERIC3_HUMAN		489	Glu-rich.									NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						TTTTCCTGGTCGTCTTCCAAG	0.358																																						ENST00000326665.5																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						c.(1465-1467)Gac>Aac		chromosome 1 open reading frame 173							179	178	178					1																	75072309		2202	4299	6501	SO:0001583	missense	127254							g.chr1:75072309C>T																												ENST00000326665.5:c.1465G>A	1.37:g.75072309C>T	ENSP00000322609:p.Asp489Asn					C1orf173_ENST00000420661.2_Missense_Mutation_p.D292N|RP4-612J11.1_ENST00000416017.1_RNA	p.D489N	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN			10	1683	-			489			Glu-rich.		Q68DL8|Q6GMR8|Q6ZSF9|Q8ND41	Missense_Mutation	SNP	ENST00000326665.5	37	c.1465G>A	CCDS30755.1	.	.	.	.	.	.	.	.	.	.	C	7.467	0.645916	0.14451	.	.	ENSG00000178965	ENST00000326665;ENST00000420661	T;T	0.18174	2.69;2.23	5.15	-1.76	0.08006	.	.	.	.	.	T	0.03651	0.0104	L	0.42245	1.32	0.09310	N	1	B;D	0.53151	0.116;0.958	B;B	0.38954	0.017;0.286	T	0.34725	-0.9817	9	0.30078	T	0.28	-2.4118	4.7357	0.12986	0.328:0.3524:0.0:0.3196	.	292;489	Q5RHP9-3;Q5RHP9	.;CA173_HUMAN	N	489;292	ENSP00000322609:D489N;ENSP00000398581:D292N	ENSP00000322609:D489N	D	-	1	0	C1orf173	74844897	0.000000	0.05858	0.010000	0.14722	0.116000	0.19942	-0.173000	0.09854	-0.254000	0.09500	0.655000	0.94253	GAC		0.358	C1orf173-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026516.1			32	50	0	0	0	1	0	32	50					T	75072309	C	T	75072309	3	4	221	1	0	0	0	0	1	0	0	0	2014	884	31	2	3147	2	C1orf173	1	75072309	Missense_Mutation	SNP	C	TCGA-HC-7752-01A-11D-2114-08		75072309	174178312	1	10190											
RPL5	6125	broad.mit.edu	37	chr1	93300426	93300426	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtgtgaaggttggcctgacaAattatgctgcagcatattgt	10	13	12	6	0	0	2	0	2	0	0	0	2	0	2	1	2	3	4	1	2	4	4			TCGA-HC-7752-01A-11D-2114-08	TCGA-HC-7752-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	109ba14b-307b-4a23-b09d-643fa235d0ff	bb02213c-0f97-4cea-a808-094166184ac9	g.chr1:93300426A>G	ENST00000370321.3	+	4	370	c.280A>G	c.(280-282)Aat>Gat	p.N94D	SNORD21_ENST00000383953.1_RNA	NM_000969.3	NP_000960.2	P46777	RL5_HUMAN	ribosomal protein L5	94					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|ribosomal large subunit biogenesis (GO:0042273)|RNA metabolic process (GO:0016070)|rRNA processing (GO:0006364)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	5S rRNA binding (GO:0008097)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	9		all_lung(203;0.00265)|Lung NSC(277;0.0056)|all_neural(321;0.185)|Melanoma(281;0.192)|Glioma(108;0.203)		GBM - Glioblastoma multiforme(16;0.000305)|all cancers(265;0.000343)|Epithelial(280;0.0927)		TGGCCTGACAAATTATGCTGC	0.453																																						ENST00000370321.3																			0				endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	9						c.(280-282)Aat>Gat		ribosomal protein L5							112	111	111					1																	93300426		2203	4298	6501	SO:0001583	missense	6125				endocrine pancreas development|ribosomal large subunit biogenesis|rRNA processing|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|nucleolus	5S rRNA binding|protein binding|structural constituent of ribosome	g.chr1:93300426A>G	U14966	CCDS741.1	1p22.1	2014-06-13			ENSG00000122406	ENSG00000122406		"L ribosomal proteins"	10360	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 135"	603634				7937132, 7772601	Standard	NM_000969		Approved	L5, PPP1R135	uc001doz.3	P46777	OTTHUMG00000010899	ENST00000370321.3:c.280A>G	1.37:g.93300426A>G	ENSP00000359345:p.Asn94Asp						p.N94D	NM_000969.3	NP_000960.2	P46777	RL5_HUMAN		GBM - Glioblastoma multiforme(16;0.000305)|all cancers(265;0.000343)|Epithelial(280;0.0927)	4	370	+		all_lung(203;0.00265)|Lung NSC(277;0.0056)|all_neural(321;0.185)|Melanoma(281;0.192)|Glioma(108;0.203)	94					Q32LZ3|Q53HH6|Q9H3F4	Missense_Mutation	SNP	ENST00000370321.3	37	c.280A>G	CCDS741.1	.	.	.	.	.	.	.	.	.	.	A	28.5	4.925950	0.92319	.	.	ENSG00000122406	ENST00000432788;ENST00000370321;ENST00000315741	T	0.69685	-0.42	5.14	5.14	0.70334	.	0.000000	0.85682	D	0.000000	D	0.85583	0.5730	H	0.98525	4.255	0.80722	D	1	B	0.33583	0.418	P	0.53146	0.719	D	0.88153	0.2852	10	0.66056	D	0.02	.	14.9846	0.71336	1.0:0.0:0.0:0.0	.	94	P46777	RL5_HUMAN	D	44;94;44	ENSP00000359345:N94D	ENSP00000359338:N44D	N	+	1	0	RPL5	93073014	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	9.321000	0.96353	1.944000	0.56390	0.533000	0.62120	AAT		0.453	RPL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030058.2	NM_000969		5	155	0	0	0	1	0	5	155					G	93300426	A	G	93300426	3	3	221	1	0	0	0	0	1	0	0	0	13597	14	1	4	294	4	RPL5	1	93300426	Missense_Mutation	SNP	A	TCGA-HC-7752-01A-11D-2114-08	18228117	93300426	155950195	2	10191											
S100A3	6274	broad.mit.edu	37	chr1	153520902	153520902	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatttgtccccacagcgcccTgcgtattcctggaaggtgca	7	11	10	13	2	0	0	0	0	0	0	2	1	2	1	4	2	3	2	4	2	3	4			TCGA-HC-7752-01A-11D-2114-08	TCGA-HC-7752-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	109ba14b-307b-4a23-b09d-643fa235d0ff	bb02213c-0f97-4cea-a808-094166184ac9	g.chr1:153520902T>G	ENST00000368713.3	-	2	256	c.60A>C	c.(58-60)gcA>gcC	p.A20A	S100A4_ENST00000368716.4_5'Flank|S100A3_ENST00000368712.1_Silent_p.A20A|S100A4_ENST00000368714.1_Intron|S100A4_ENST00000354332.4_5'Flank	NM_002960.1	NP_002951.1	P33764	S10A3_HUMAN	S100 calcium binding protein A3	20	EF-hand 1.					cytoplasm (GO:0005737)|nucleolus (GO:0005730)	calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)			breast(1)|liver(1)|lung(1)	3	all_lung(78;5.98e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.171)			CACAGCGCCCTGCGTATTCCT	0.612																																						ENST00000368713.3																			0				breast(1)|liver(1)|lung(1)	3						c.(58-60)gcA>gcC		S100 calcium binding protein A3							153	147	149					1																	153520902		2203	4300	6503	SO:0001819	synonymous_variant	6274						calcium ion binding|protein binding	g.chr1:153520902T>G	BC012893	CCDS1043.1	1q21	2008-02-05	2001-11-28		ENSG00000188015	ENSG00000188015		"S100 calcium binding proteins"	10493	protein-coding gene	gene with protein product		176992	"S100 calcium-binding protein A3"	S100E		8341667	Standard	NM_002960		Approved		uc001fca.1	P33764	OTTHUMG00000013550	ENST00000368713.3:c.60A>C	1.37:g.153520902T>G						S100A3_ENST00000368712.1_Silent_p.A20A|S100A4_ENST00000368714.1_Intron	p.A20A	NM_002960.1	NP_002951.1	P33764	S10A3_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		2	256	-	all_lung(78;5.98e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		20			EF-hand 1.		D3DV51|Q6FGE4	Silent	SNP	ENST00000368713.3	37	c.60A>C	CCDS1043.1																																																																																				0.612	S100A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000037726.1	NM_002960		15	189	0	0	0	1	0	15	189					G	153520902	T	G	153520902	2	3	221	1	0	0	0	0	0	0	0	1	13779	1567	55	5		5	S100A3	1	153520902	Silent	SNP	T	TCGA-HC-7752-01A-11D-2114-08	60220476	153520902	95729719	3	10192											
SCTR	6344	broad.mit.edu	37	chr2	120223462	120223462	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagcttcagcaggtaggagtGctgcagagagaggcacgtgt	10	7	16	8	1	1	2	1	0	0	2	1	4	1	3	0	3	4	6	0	3	1	2			TCGA-HC-7752-01A-11D-2114-08	TCGA-HC-7752-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	109ba14b-307b-4a23-b09d-643fa235d0ff	bb02213c-0f97-4cea-a808-094166184ac9	g.chr2:120223462G>A	ENST00000019103.5	-	5	673	c.406C>T	c.(406-408)Cac>Tac	p.H136Y		NM_002980.2	NP_002971.2	P47872	SCTR_HUMAN	secretin receptor	136					digestion (GO:0007586)|excretion (GO:0007588)|G-protein coupled receptor signaling pathway (GO:0007186)	cytoplasmic microtubule (GO:0005881)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	secretin receptor activity (GO:0015055)			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3)	19					Secretin(DB00021)	AGGTAGGAGTGCTGCAGAGAG	0.622																																						ENST00000019103.5																			0				central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3)	19						c.e5-1		secretin receptor	Secretin(DB00021)						133	97	109					2																	120223462		2203	4300	6503	SO:0001630	splice_region_variant	6344				digestion|excretion	integral to plasma membrane	secretin receptor activity	g.chr2:120223462G>A		CCDS2127.1	2q14.1	2012-08-10			ENSG00000080293	ENSG00000080293		"GPCR / Class B : Glucagon receptors"	10608	protein-coding gene	gene with protein product		182098				1646711	Standard	NM_002980		Approved		uc002tma.3	P47872	OTTHUMG00000131407	ENST00000019103.5:c.406-1C>T	2.37:g.120223462G>A							p.H136_splice	NM_002980.2	NP_002971.2	P47872	SCTR_HUMAN			5	673	-			136					Q12961|Q13213|Q53T00	Splice_Site	SNP	ENST00000019103.5	37	c.405_splice	CCDS2127.1	.	.	.	.	.	.	.	.	.	.	G	0.011	-1.694807	0.00731	.	.	ENSG00000080293	ENST00000019103	T	0.42131	0.98	5.33	3.49	0.39957	.	0.193718	0.36740	N	0.002425	T	0.24661	0.0598	L	0.33293	1	0.38845	D	0.956143	B	0.02656	0.0	B	0.06405	0.002	T	0.13388	-1.0511	10	0.02654	T	1	.	8.0022	0.30304	0.0834:0.306:0.6106:0.0	.	136	P47872	SCTR_HUMAN	Y	136	ENSP00000019103:H136Y	ENSP00000019103:H136Y	H	-	1	0	SCTR	119939932	1.000000	0.71417	0.968000	0.41197	0.115000	0.19883	3.553000	0.53713	0.776000	0.33473	-0.175000	0.13238	CAC		0.622	SCTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254198.2		Missense_Mutation	3	41	0	0	0	1	0	3	41					A	120223462	G	A	120223462	5	1	221	1	0	0	0	0	0	0	1	0	13943	1333	46	3	952	3	SCTR	2	120223462	Splice_Site	SNP	G	TCGA-HC-7752-01A-11D-2114-08		120223462	122975911	4	10193											
PPIG	9360	broad.mit.edu	37	chr2	170493494	170493494	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gggacagaagcagaagagtgCgatcaagaacccatgacaga	17	3	13	8	1	1	6	1	1	0	5	1	8	1	7	1	1	3	1	1	1	4	0			TCGA-HC-7752-01A-11D-2114-08	TCGA-HC-7752-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	109ba14b-307b-4a23-b09d-643fa235d0ff	bb02213c-0f97-4cea-a808-094166184ac9	g.chr2:170493494C>T	ENST00000260970.3	+	14	1946	c.1726C>T	c.(1726-1728)Cga>Tga	p.R576*	PPIG_ENST00000448752.2_Nonsense_Mutation_p.R576*|PPIG_ENST00000409714.3_Nonsense_Mutation_p.R561*	NM_004792.2	NP_004783.2	Q13427	PPIG_HUMAN	peptidylprolyl isomerase G (cyclophilin G)	576	Arg/Ser-rich (RS domain).				protein folding (GO:0006457)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	cyclosporin A binding (GO:0016018)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|poly(A) RNA binding (GO:0044822)	p.R576*(1)		NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(17)|ovary(2)|stomach(1)|urinary_tract(1)	43					L-Proline(DB00172)	CAGAAGAGTGCGATCAAGAAC	0.448																																						ENST00000260970.3																			1	Substitution - Nonsense(1)	p.R576*(1)	large_intestine(1)	NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(17)|ovary(2)|stomach(1)|urinary_tract(1)	43						c.(1726-1728)Cga>Tga		peptidylprolyl isomerase G (cyclophilin G)	L-Proline(DB00172)						145	138	140					2																	170493494		2202	4300	6502	SO:0001587	stop_gained	9360				protein folding|RNA splicing	nuclear matrix|nuclear speck	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity	g.chr2:170493494C>T	X99717	CCDS2235.1	2q31.1	2010-07-23	2006-01-12		ENSG00000138398	ENSG00000138398	6.1.1.16		14650	protein-coding gene	gene with protein product	"SR-related CTD-associated factor 10"	606093	"peptidyl-prolyl isomerase G (cyclophilin G)"			8973360, 9153302	Standard	NM_004792		Approved	CARS-Cyp, SRCyp, SCAF10	uc002uez.3	Q13427	OTTHUMG00000132206	ENST00000260970.3:c.1726C>T	2.37:g.170493494C>T	ENSP00000260970:p.Arg576*					PPIG_ENST00000448752.2_Nonsense_Mutation_p.R576*|PPIG_ENST00000409714.3_Nonsense_Mutation_p.R561*	p.R576*	NM_004792.2	NP_004783.2	Q13427	PPIG_HUMAN			14	1946	+			576			Arg/Ser-rich (RS domain).		D3DPC5|D3DPC6|O00706|Q53R40|Q53SN4|Q96DG9	Nonsense_Mutation	SNP	ENST00000260970.3	37	c.1726C>T	CCDS2235.1	.	.	.	.	.	.	.	.	.	.	C	16.29	3.082793	0.55861	.	.	ENSG00000138398	ENST00000260970;ENST00000409714;ENST00000448752	.	.	.	5.74	1.39	0.22231	.	0.233426	0.35262	N	0.003325	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-1.9424	8.9443	0.35749	0.6327:0.288:0.0:0.0792	.	.	.	.	X	576;561;576	.	ENSP00000260970:R576X	R	+	1	2	PPIG	170201740	0.213000	0.23551	0.999000	0.59377	0.142000	0.21351	0.587000	0.23909	0.323000	0.23307	-0.119000	0.15052	CGA		0.448	PPIG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255264.2			3	47	0	0	0	1	0	3	47					T	170493494	C	T	170493494	4	4	221	1	0	0	0	0	0	1	0	0	12324	760	27	1	1772	1	PPIG	2	170493494	Nonsense_Mutation	SNP	C	TCGA-HC-7752-01A-11D-2114-08	50270032	170493494	72705879	5	10194											
ZDBF2	57683	broad.mit.edu	37	chr2	207170677	207170677	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttaaagaaataagtcttcaGaatgcaaggcatattagcct	16	11	8	6	0	2	2	1	0	1	2	2	2	2	2	1	1	2	3	1	1	8	5			TCGA-HC-7752-01A-11D-2114-08	TCGA-HC-7752-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	109ba14b-307b-4a23-b09d-643fa235d0ff	e6773cf6-a13a-4c92-9f1e-af315aa2657d	g.chr2:207170677G>T	ENST00000374423.3	+	5	1811	c.1425G>T	c.(1423-1425)caG>caT	p.Q475H		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	475							nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						TAAGTCTTCAGAATGCAAGGC	0.348																																						ENST00000374423.3																			0				endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						c.(1423-1425)caG>caT		zinc finger, DBF-type containing 2							52	49	50					2																	207170677		1852	4099	5951	SO:0001583	missense	57683						nucleic acid binding|zinc ion binding	g.chr2:207170677G>T	AB046791	CCDS46501.1, CCDS74637.1	2q33.3	2013-01-10			ENSG00000204186	ENSG00000204186		"Zinc fingers, DBF-type"	29313	protein-coding gene	gene with protein product						10997877	Standard	XM_005246711		Approved	FLJ45338, KIAA1571	uc002vbp.2	Q9HCK1	OTTHUMG00000154648	ENST00000374423.3:c.1425G>T	2.37:g.207170677G>T	ENSP00000363545:p.Gln475His						p.Q475H	NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN			5	1811	+			475					Q6ZNP7|Q6ZSN8	Missense_Mutation	SNP	ENST00000374423.3	37	c.1425G>T	CCDS46501.1	.	.	.	.	.	.	.	.	.	.	G	9.339	1.062538	0.19987	.	.	ENSG00000204186	ENST00000374423	T	0.60040	0.22	4.59	0.305	0.15801	.	1.172330	0.06530	N	0.741207	T	0.43411	0.1246	L	0.38175	1.15	0.09310	N	1	B	0.24963	0.115	B	0.19666	0.026	T	0.30765	-0.9967	10	0.45353	T	0.12	.	3.542	0.07815	0.2002:0.0:0.4577:0.3421	.	475	Q9HCK1	ZDBF2_HUMAN	H	475	ENSP00000363545:Q475H	ENSP00000363545:Q475H	Q	+	3	2	ZDBF2	206878922	0.572000	0.26668	0.001000	0.08648	0.028000	0.11728	0.765000	0.26546	-0.068000	0.12953	0.650000	0.86243	CAG		0.348	ZDBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336458.1	NM_020923		6	15	1	0	0.00116845	1	0.0012808	6	15					T	207170677	G	T	207170677	3	4	221	1	0	0	0	0	1	0	0	0	17596	933	33	5	1435	5	ZDBF2	2	207170677	Missense_Mutation	SNP	G	TCGA-HC-7752-01A-11D-2114-08	36677183	207170677	36028696	6	10195											
ILKAP	80895	broad.mit.edu	37	chr2	239096826	239096826	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tgtcgttcaggatgacgtggGcatcctgcatctcctccctc	5	12	10	14	2	2	1	1	1	1	0	7	2	4	2	3	2	1	3	3	2	0	1			TCGA-HC-7752-01A-11D-2114-08	TCGA-HC-7752-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	109ba14b-307b-4a23-b09d-643fa235d0ff	bb02213c-0f97-4cea-a808-094166184ac9	g.chr2:239096826G>A	ENST00000254654.3	-	5	546	c.371C>T	c.(370-372)gCc>gTc	p.A124V		NM_030768.2	NP_110395.1	Q9H0C8	ILKAP_HUMAN	integrin-linked kinase-associated serine/threonine phosphatase	124	PP2C-like.				protein dephosphorylation (GO:0006470)|regulation of nuclear cell cycle DNA replication (GO:0033262)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)			endometrium(1)|kidney(3)|large_intestine(5)|lung(4)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_lung(227;0.152)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;5.49e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.93e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.82e-08)|BRCA - Breast invasive adenocarcinoma(100;0.00012)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.0163)		GATGACGTGGGCATCCTGCAT	0.542																																						ENST00000254654.3																			0				endometrium(1)|kidney(3)|large_intestine(5)|lung(4)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19						c.(370-372)gCc>gTc		integrin-linked kinase-associated serine/threonine phosphatase							141	99	113					2																	239096826		2203	4300	6503	SO:0001583	missense	80895					cytoplasm|protein serine/threonine phosphatase complex	metal ion binding|protein binding	g.chr2:239096826G>A	AY024365	CCDS2526.1	2q37.3	2012-04-17	2010-10-25		ENSG00000132323	ENSG00000132323	3.1.3.16	"Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"	15566	protein-coding gene	gene with protein product			"integrin-linked kinase-associated serine/threonine phosphatase 2C"				Standard	NM_030768		Approved	DKFZP434J2031, FLJ10181	uc002vxv.3	Q9H0C8	OTTHUMG00000133334	ENST00000254654.3:c.371C>T	2.37:g.239096826G>A	ENSP00000254654:p.Ala124Val						p.A124V	NM_030768.2	NP_110395.1	Q9H0C8	ILKAP_HUMAN		Epithelial(121;5.49e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.93e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.82e-08)|BRCA - Breast invasive adenocarcinoma(100;0.00012)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.0163)	5	546	-		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_lung(227;0.152)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Hepatocellular(293;0.244)	124			PP2C-like.		B3KM39	Missense_Mutation	SNP	ENST00000254654.3	37	c.371C>T	CCDS2526.1	.	.	.	.	.	.	.	.	.	.	G	33	5.213390	0.95069	.	.	ENSG00000132323	ENST00000254654;ENST00000457149	T;T	0.11277	2.79;2.79	5.84	5.84	0.93424	Protein phosphatase 2C-like (5);	0.000000	0.85682	D	0.000000	T	0.27454	0.0674	M	0.72479	2.2	0.80722	D	1	B	0.34103	0.437	P	0.46299	0.511	T	0.00638	-1.1632	10	0.87932	D	0	.	18.9061	0.92462	0.0:0.0:1.0:0.0	.	124	Q9H0C8	ILKAP_HUMAN	V	124;122	ENSP00000254654:A124V;ENSP00000395301:A122V	ENSP00000254654:A124V	A	-	2	0	ILKAP	238761565	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.657000	0.83745	2.765000	0.95021	0.655000	0.94253	GCC		0.542	ILKAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257163.2	NM_030768		21	18	0	0	0	1	0	21	18					A	239096826	G	A	239096826	3	1	221	1	0	0	0	0	1	0	0	0	7714	1203	42	3	839	3	ILKAP	2	239096826	Missense_Mutation	SNP	G	TCGA-HC-7752-01A-11D-2114-08	31926149	239096826	4102547	7	10196											
RAF1	5894	broad.mit.edu	37	chr3	12626634	12626634	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gacttacctgatctcggttgTtgatgtgagaataaggaagc	11	12	12	6	1	1	3	0	3	1	1	2	6	1	4	1	2	2	2	1	2	4	4			TCGA-HC-7752-01A-11D-2114-08	TCGA-HC-7752-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	109ba14b-307b-4a23-b09d-643fa235d0ff	bb02213c-0f97-4cea-a808-094166184ac9	g.chr3:12626634T>C	ENST00000251849.4	-	15	2094	c.1655A>G	c.(1654-1656)aAc>aGc	p.N552S	RAF1_ENST00000534997.1_Missense_Mutation_p.N337S|RAF1_ENST00000442415.2_Missense_Mutation_p.N572S|RAF1_ENST00000542177.1_Missense_Mutation_p.N471S	NM_002880.3	NP_002871.1	P04049	RAF1_HUMAN	Raf-1 proto-oncogene, serine/threonine kinase	552	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of adenylate cyclase activity (GO:0007190)|activation of MAPKK activity (GO:0000186)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell proliferation (GO:0008283)|death-inducing signaling complex assembly (GO:0071550)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|intermediate filament cytoskeleton organization (GO:0045104)|ion transmembrane transport (GO:0034220)|MAPK cascade (GO:0000165)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of protein complex assembly (GO:0031333)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein phosphorylation (GO:0006468)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of cell differentiation (GO:0045595)|regulation of cell motility (GO:2000145)|regulation of Rho protein signal transduction (GO:0035023)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|mitochondrial outer membrane (GO:0005741)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|pseudopodium (GO:0031143)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)		ESRP1/RAF1(4)|RAF1/DAZL(2)|SRGAP3/RAF1(6)	biliary_tract(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)	32					Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)	ATCTCGGTTGTTGATGTGAGA	0.517			T	SRGAP3	pilocytic astrocytoma				Noonan syndrome																													ENST00000251849.4				Dom	yes		3	3p25	5894	T	v-raf-1 murine leukemia viral oncogene homolog 1			M	SRGAP3		pilocytic astrocytoma	ESRP1/RAF1(4)|RAF1/DAZL(2)|SRGAP3/RAF1(6)	0				biliary_tract(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)	32						c.(1654-1656)aAc>aGc		v-raf-1 murine leukemia viral oncogene homolog 1	Sorafenib(DB00398)						88	77	81					3																	12626634		2203	4300	6503	SO:0001583	missense	5894	Noonan syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome	activation of MAPKK activity|apoptosis|axon guidance|cell proliferation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|negative regulation of apoptosis|negative regulation of cell proliferation|negative regulation of protein complex assembly|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of peptidyl-serine phosphorylation|Ras protein signal transduction|synaptic transmission	cytosol|mitochondrial outer membrane|plasma membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|receptor signaling protein activity	g.chr3:12626634T>C	X03484	CCDS2612.1	3p25	2014-09-17	2014-06-26		ENSG00000132155	ENSG00000132155			9829	protein-coding gene	gene with protein product	"C-Raf proto-oncogene, serine/threonine kinase"	164760	"v-raf-1 murine leukemia viral oncogene homolog 1"			1611909	Standard	NM_002880		Approved	Raf-1, c-Raf, CRAF	uc003bxf.4	P04049	OTTHUMG00000129789	ENST00000251849.4:c.1655A>G	3.37:g.12626634T>C	ENSP00000251849:p.Asn552Ser					RAF1_ENST00000442415.2_Missense_Mutation_p.N572S|RAF1_ENST00000534997.1_Missense_Mutation_p.N337S|RAF1_ENST00000542177.1_Missense_Mutation_p.N471S	p.N552S	NM_002880.3	NP_002871.1	P04049	RAF1_HUMAN			15	2094	-			552			Protein kinase.		B0LPH8|B2R5N3|Q15278|Q9UC20	Missense_Mutation	SNP	ENST00000251849.4	37	c.1655A>G	CCDS2612.1	.	.	.	.	.	.	.	.	.	.	T	11.89	1.774714	0.31411	.	.	ENSG00000132155	ENST00000251849;ENST00000442415;ENST00000432427;ENST00000534997;ENST00000542177	D;D;D;D;D	0.98807	-5.15;-5.15;-5.15;-5.15;-5.15	5.54	3.14	0.36123	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.239499	0.50627	D	0.000102	D	0.93703	0.7988	N	0.04373	-0.215	0.35881	D	0.82892	B;B;B	0.15719	0.014;0.004;0.009	B;B;B	0.25614	0.062;0.013;0.05	D	0.89819	0.3987	10	0.33141	T	0.24	.	8.4182	0.32683	0.0:0.2121:0.0:0.7879	.	471;337;552	B4E0X2;B4E1N6;P04049	.;.;RAF1_HUMAN	S	552;572;431;337;471	ENSP00000251849:N552S;ENSP00000401888:N572S;ENSP00000398591:N431S;ENSP00000441186:N337S;ENSP00000443567:N471S	ENSP00000251849:N552S	N	-	2	0	RAF1	12601634	1.000000	0.71417	1.000000	0.80357	0.933000	0.57130	2.127000	0.42035	0.523000	0.28482	0.533000	0.62120	AAC		0.517	RAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252015.2	NM_002880		3	80	0	0	0	1	0	3	80					C	12626634	T	C	12626634	3	2	221	1	0	0	0	0	1	0	0	0	13002	1725	60	4	303	4	RAF1	3	12626634	Missense_Mutation	SNP	T	TCGA-HC-7752-01A-11D-2114-08		12626634	185395796	8	10197											
NISCH	11188	broad.mit.edu	37	chr3	52522494	52522494	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acgagaagttccacttcctgCgcgtctacaaccagctgcgg	9	8	10	14	4	1	1	0	0	1	1	3	2	3	1	3	1	5	2	3	1	3	3	rs200965700		TCGA-HC-7752-01A-11D-2114-08	TCGA-HC-7752-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	109ba14b-307b-4a23-b09d-643fa235d0ff	bb02213c-0f97-4cea-a808-094166184ac9	g.chr3:52522494C>A	ENST00000479054.1	+	17	3058	c.2986C>A	c.(2986-2988)Cgc>Agc	p.R996S	NISCH_ENST00000345716.4_Missense_Mutation_p.R996S			Q9Y2I1	NISCH_HUMAN	nischarin	996					actin cytoskeleton organization (GO:0030036)|apoptotic process (GO:0006915)|glucose metabolic process (GO:0006006)|negative regulation of cell migration (GO:0030336)|norepinephrine secretion (GO:0048243)|Rac protein signal transduction (GO:0016601)|regulation of blood pressure (GO:0008217)|regulation of synaptic transmission, GABAergic (GO:0032228)	cytosol (GO:0005829)|endosome (GO:0005768)|membrane (GO:0016020)|plasma membrane (GO:0005886)	G-protein coupled amine receptor activity (GO:0008227)|identical protein binding (GO:0042802)|phosphatidylinositol binding (GO:0035091)			NS(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	33				BRCA - Breast invasive adenocarcinoma(193;1.93e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)|OV - Ovarian serous cystadenocarcinoma(275;0.0577)	Tizanidine(DB00697)	CCACTTCCTGCGCGTCTACAA	0.647																																						ENST00000345716.4																			0				NS(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	33						c.(2986-2988)Cgc>Agc		nischarin							61	60	60					3																	52522494		2203	4300	6503	SO:0001583	missense	11188				apoptosis|cell communication	cytosol|early endosome|plasma membrane|recycling endosome	phosphatidylinositol binding|receptor activity	g.chr3:52522494C>A	AF082516	CCDS33767.1, CCDS63651.1, CCDS63652.1	3p21.1	2008-07-18			ENSG00000010322	ENSG00000010322			18006	protein-coding gene	gene with protein product	"imidazoline receptor candidate", "I-1 receptor candidate protein", "imidazoline receptor antisera selected"	615507				11912194, 10882231	Standard	NM_007184		Approved	KIAA0975, I-1, IRAS	uc003ded.4	Q9Y2I1	OTTHUMG00000158571	ENST00000479054.1:c.2986C>A	3.37:g.52522494C>A	ENSP00000418232:p.Arg996Ser					NISCH_ENST00000479054.1_Missense_Mutation_p.R996S	p.R996S	NM_007184.3	NP_009115.2	Q9Y2I1	NISCH_HUMAN		BRCA - Breast invasive adenocarcinoma(193;1.93e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)|OV - Ovarian serous cystadenocarcinoma(275;0.0577)	16	3120	+			996					C9J245|Q6PGP3|Q6PIB4|Q7L8M3|Q7Z2X6|Q9UES6|Q9UEU4|Q9UFW3	Missense_Mutation	SNP	ENST00000479054.1	37	c.2986C>A	CCDS33767.1	.	.	.	.	.	.	.	.	.	.	C	14.02	2.409455	0.42715	.	.	ENSG00000010322	ENST00000479054;ENST00000345716;ENST00000414197	T;T	0.60672	0.17;0.17	5.21	4.24	0.50183	.	0.263109	0.37577	N	0.002040	T	0.34077	0.0885	N	0.14661	0.345	0.31926	N	0.612828	P	0.35714	0.517	B	0.30716	0.119	T	0.44937	-0.9295	10	0.41790	T	0.15	-24.0172	7.952	0.30021	0.2231:0.6846:0.0:0.0923	.	996	Q9Y2I1	NISCH_HUMAN	S	996;996;340	ENSP00000418232:R996S;ENSP00000339958:R996S	ENSP00000339958:R996S	R	+	1	0	NISCH	52497534	1.000000	0.71417	0.999000	0.59377	0.824000	0.46624	1.886000	0.39688	2.434000	0.82447	0.462000	0.41574	CGC		0.647	NISCH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351357.1	NM_007184		3	86	1	0	1	1	1	3	86					A	52522494	C	A	52522494	3	1	221	1	0	0	0	0	1	0	0	0	10432	768	27	5	3048	5	NISCH	3	52522494	Missense_Mutation	SNP	C	TCGA-HC-7752-01A-11D-2114-08	39895860	52522494	145499936	9	10198											
TMEM39A	55254	broad.mit.edu	37	chr3	119176912	119176912	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtaaggataccaccacactgTtttataaatgttgatgtact	13	14	7	7	0	0	1	0	1	0	0	0	2	0	2	2	1	2	4	2	1	6	7			TCGA-HC-7752-01A-11D-2114-08	TCGA-HC-7752-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	109ba14b-307b-4a23-b09d-643fa235d0ff	bb02213c-0f97-4cea-a808-094166184ac9	g.chr3:119176912T>G	ENST00000319172.5	-	3	709	c.289A>C	c.(289-291)Aca>Cca	p.T97P	TMEM39A_ENST00000486159.1_5'UTR	NM_018266.1	NP_060736.1	Q9NV64	TM39A_HUMAN	transmembrane protein 39A	97						integral component of membrane (GO:0016021)				NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)	13				GBM - Glioblastoma multiforme(114;0.244)		CACCACACTGTTTTATAAATG	0.383																																						ENST00000319172.5																			0				NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)	13						c.(289-291)Aca>Cca		transmembrane protein 39A							150	152	151					3																	119176912		2203	4300	6503	SO:0001583	missense	55254					integral to membrane		g.chr3:119176912T>G	BC021277	CCDS2987.1	3q13.33	2005-01-10			ENSG00000176142	ENSG00000176142			25600	protein-coding gene	gene with protein product						12477932	Standard	NM_018266		Approved	FLJ10902	uc003eck.2	Q9NV64	OTTHUMG00000159361	ENST00000319172.5:c.289A>C	3.37:g.119176912T>G	ENSP00000326063:p.Thr97Pro					TMEM39A_ENST00000486159.1_5'UTR	p.T97P	NM_018266.1	NP_060736.1	Q9NV64	TM39A_HUMAN		GBM - Glioblastoma multiforme(114;0.244)	3	709	-			97					D3DN80|Q53FN4|Q53GI1|Q6PKB5	Missense_Mutation	SNP	ENST00000319172.5	37	c.289A>C	CCDS2987.1	.	.	.	.	.	.	.	.	.	.	T	18.69	3.678293	0.68042	.	.	ENSG00000176142	ENST00000319172;ENST00000468676;ENST00000497993;ENST00000461654	T	0.61742	0.08	4.59	4.59	0.56863	.	0.051780	0.85682	D	0.000000	T	0.59729	0.2215	M	0.74467	2.265	0.80722	D	1	P	0.35208	0.49	B	0.36608	0.229	T	0.66775	-0.5838	10	0.72032	D	0.01	-8.8026	13.5892	0.61951	0.0:0.0:0.0:1.0	.	97	Q9NV64	TM39A_HUMAN	P	97	ENSP00000326063:T97P	ENSP00000326063:T97P	T	-	1	0	TMEM39A	120659602	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	7.446000	0.80609	2.045000	0.60652	0.460000	0.39030	ACA		0.383	TMEM39A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354941.3	NM_018266		4	77	0	0	0	1	0	4	77					G	119176912	T	G	119176912	3	3	221	1	0	0	0	0	1	0	0	0	16158	1725	60	5	1205	5	TMEM39A	3	119176912	Missense_Mutation	SNP	T	TCGA-HC-7752-01A-11D-2114-08	66654418	119176912	78845518	10	10199											
MRAS	22808	broad.mit.edu	37	chr3	138117381	138117381	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgaggaagatcaccagggagCaaggaaaagaaatggcgacc	17	3	14	7	1	1	3	1	1	0	2	1	7	1	6	2	4	1	1	2	4	5	0			TCGA-HC-7752-01A-11D-2114-08	TCGA-HC-7752-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	109ba14b-307b-4a23-b09d-643fa235d0ff	bb02213c-0f97-4cea-a808-094166184ac9	g.chr3:138117381C>A	ENST00000289104.4	+	4	1065	c.418C>A	c.(418-420)Caa>Aaa	p.Q140K	MRAS_ENST00000423968.2_Missense_Mutation_p.Q140K|MRAS_ENST00000464896.1_Missense_Mutation_p.Q64K|MRAS_ENST00000474559.1_Missense_Mutation_p.Q140K	NM_001085049.2|NM_001252090.1|NM_001252091.1|NM_012219.4	NP_001078518.1|NP_001239019.1|NP_001239020.1|NP_036351.3	O14807	RASM_HUMAN	muscle RAS oncogene homolog	140					actin cytoskeleton organization (GO:0030036)|multicellular organismal development (GO:0007275)|muscle organ development (GO:0007517)|Ras protein signal transduction (GO:0007265)	extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTP-dependent protein binding (GO:0030742)|GTPase activity (GO:0003924)			kidney(1)|large_intestine(2)|lung(8)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	14						CACCAGGGAGCAAGGAAAAGA	0.512																																						ENST00000289104.4																			0				kidney(1)|large_intestine(2)|lung(8)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	14						c.(418-420)Caa>Aaa		muscle RAS oncogene homolog							148	133	138					3																	138117381		2203	4300	6503	SO:0001583	missense	22808				actin cytoskeleton organization|muscle organ development|Ras protein signal transduction	intracellular|plasma membrane	GTP binding|GTP-dependent protein binding|GTPase activity	g.chr3:138117381C>A	AF022080	CCDS3100.1, CCDS58855.1	3q22.3	2014-05-09			ENSG00000158186	ENSG00000158186			7227	protein-coding gene	gene with protein product		608435				9400994, 10446149	Standard	NM_012219		Approved	M-RAs, R-RAS3, RRAS3	uc003esi.4	O14807	OTTHUMG00000159888	ENST00000289104.4:c.418C>A	3.37:g.138117381C>A	ENSP00000289104:p.Gln140Lys					MRAS_ENST00000464896.1_Missense_Mutation_p.Q64K|MRAS_ENST00000474559.1_Missense_Mutation_p.Q140K|MRAS_ENST00000423968.2_Missense_Mutation_p.Q140K	p.Q140K	NM_001085049.2|NM_001252090.1|NM_001252091.1|NM_012219.4	NP_001078518.1|NP_001239019.1|NP_001239020.1|NP_036351.3	O14807	RASM_HUMAN			4	1065	+			140					B4DIK0|Q86WX8	Missense_Mutation	SNP	ENST00000289104.4	37	c.418C>A	CCDS3100.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.968475	0.74131	.	.	ENSG00000158186	ENST00000289104;ENST00000423968;ENST00000494949;ENST00000464896;ENST00000474559	T;T;T;T;T	0.76316	-1.01;-1.01;-1.01;-1.01;-1.01	4.71	4.71	0.59529	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	T	0.65984	0.2744	L	0.28344	0.845	0.80722	D	1	B	0.34329	0.449	B	0.29524	0.103	T	0.70568	-0.4836	10	0.62326	D	0.03	.	15.1511	0.72700	0.0:1.0:0.0:0.0	.	140	O14807	RASM_HUMAN	K	140;140;64;64;140	ENSP00000289104:Q140K;ENSP00000389682:Q140K;ENSP00000417685:Q64K;ENSP00000419582:Q64K;ENSP00000418356:Q140K	ENSP00000289104:Q140K	Q	+	1	0	MRAS	139600071	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.555000	0.82223	2.149000	0.67028	0.561000	0.74099	CAA		0.512	MRAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357990.1			3	70	1	0	0.150653	1	0.15668	3	70					A	138117381	C	A	138117381	3	1	221	1	0	0	0	0	1	0	0	0	9755	711	25	5	428	5	MRAS	3	138117381	Missense_Mutation	SNP	C	TCGA-HC-7752-01A-11D-2114-08	18940469	138117381	59905049	11	10200											
MRPL47	57129	broad.mit.edu	37	chr3	179320488	179320488	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttgggtcatcaaaaaattCttctagtcctttccttgaca	10	17	5	9	0	4	1	2	1	2	0	6	1	6	1	2	1	0	0	2	1	4	7			TCGA-HC-7752-01A-11D-2114-08	TCGA-HC-7752-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	109ba14b-307b-4a23-b09d-643fa235d0ff	bb02213c-0f97-4cea-a808-094166184ac9	g.chr3:179320488C>A	ENST00000476781.1	-	2	225	c.196G>T	c.(196-198)Gaa>Taa	p.E66*	NDUFB5_ENST00000472629.1_5'Flank|NDUFB5_ENST00000493866.1_5'Flank|MRPL47_ENST00000392659.2_Intron|NDUFB5_ENST00000259037.3_5'Flank|MRPL47_ENST00000259038.2_Nonsense_Mutation_p.E46*	NM_020409.2	NP_065142.2	Q9HD33	RM47_HUMAN	mitochondrial ribosomal protein L47	66					translation (GO:0006412)	mitochondrial ribosome (GO:0005761)|mitochondrion (GO:0005739)	structural constituent of ribosome (GO:0003735)			breast(1)|endometrium(1)|large_intestine(3)|lung(4)|skin(1)|stomach(1)	11	all_cancers(143;9.62e-16)|Ovarian(172;0.0172)|Breast(254;0.191)		OV - Ovarian serous cystadenocarcinoma(80;5.98e-26)|GBM - Glioblastoma multiforme(14;0.0169)|BRCA - Breast invasive adenocarcinoma(182;0.18)			TCAAAAAATTCTTCTAGTCCT	0.373																																						ENST00000476781.1																			0				breast(1)|endometrium(1)|large_intestine(3)|lung(4)|skin(1)|stomach(1)	11						c.(196-198)Gaa>Taa		mitochondrial ribosomal protein L47							88	96	93					3																	179320488		2203	4300	6503	SO:0001587	stop_gained	57129				translation	mitochondrial ribosome	structural constituent of ribosome	g.chr3:179320488C>A	AF285120	CCDS3232.1, CCDS3233.1	3q26.33	2012-11-14			ENSG00000136522	ENSG00000136522		"Mitochondrial ribosomal proteins / large subunits"	16652	protein-coding gene	gene with protein product	"nasopharyngeal carcinoma metastasis-related 1"	611852				11551941	Standard	NM_177988		Approved	CGI-204, NCM1	uc003fjz.3	Q9HD33	OTTHUMG00000157784	ENST00000476781.1:c.196G>T	3.37:g.179320488C>A	ENSP00000417602:p.Glu66*					MRPL47_ENST00000392659.2_Intron|MRPL47_ENST00000259038.2_Nonsense_Mutation_p.E46*	p.E66*	NM_020409.2	NP_065142.2	Q9HD33	RM47_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;5.98e-26)|GBM - Glioblastoma multiforme(14;0.0169)|BRCA - Breast invasive adenocarcinoma(182;0.18)		2	225	-	all_cancers(143;9.62e-16)|Ovarian(172;0.0172)|Breast(254;0.191)		66					Q6XRG1|Q8N5D1	Nonsense_Mutation	SNP	ENST00000476781.1	37	c.196G>T	CCDS3232.1	.	.	.	.	.	.	.	.	.	.	C	37	6.112409	0.97296	.	.	ENSG00000136522	ENST00000476781;ENST00000259038	.	.	.	5.94	5.94	0.96194	.	0.183136	0.45867	D	0.000321	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-25.849	19.1451	0.93461	0.0:1.0:0.0:0.0	.	.	.	.	X	66;46	.	ENSP00000259038:E46X	E	-	1	0	MRPL47	180803182	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.493000	0.66899	2.820000	0.97059	0.650000	0.86243	GAA		0.373	MRPL47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349623.1	NM_020409		27	44	1	0	3.65163e-15	1	4.21966e-15	27	44					A	179320488	C	A	179320488	4	1	221	1	0	0	0	0	0	1	0	0	9811	922	32	5	580	5	MRPL47	3	179320488	Nonsense_Mutation	SNP	C	TCGA-HC-7752-01A-11D-2114-08	41203107	179320488	18701942	12	10201											
AFAP1	60312	broad.mit.edu	37	chr4	7811388	7811388	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	aggaggtctgctcgtctgtgGacggctttttctttcccaga	5	14	12	10	2	3	1	0	0	3	1	5	3	4	3	1	4	1	2	1	4	0	3			TCGA-HC-7752-01A-11D-2114-08	TCGA-HC-7752-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	109ba14b-307b-4a23-b09d-643fa235d0ff	bb02213c-0f97-4cea-a808-094166184ac9	g.chr4:7811388G>C	ENST00000360265.4	-	8	1241	c.1007C>G	c.(1006-1008)tCc>tGc	p.S336C	AFAP1_ENST00000382543.3_Missense_Mutation_p.S336C|AFAP1_ENST00000358461.2_Missense_Mutation_p.S336C|AFAP1_ENST00000420658.1_Missense_Mutation_p.S336C			Q8N556	AFAP1_HUMAN	actin filament associated protein 1	336						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(4)|stomach(2)	32						CTCGTCTGTGGACGGCTTTTT	0.507																																						ENST00000420658.1																			0				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(4)|stomach(2)	32						c.(1006-1008)tCc>tGc		actin filament associated protein 1							154	126	135					4																	7811388		2203	4300	6503	SO:0001583	missense	60312					actin cytoskeleton|cytoplasm|focal adhesion	actin binding	g.chr4:7811388G>C	AB209676	CCDS3397.1, CCDS47010.1	4p16	2014-02-12	2007-02-07		ENSG00000196526	ENSG00000196526		"Pleckstrin homology (PH) domain containing"	24017	protein-coding gene	gene with protein product		608252				14755689, 11641786, 11607843	Standard	NM_198595		Approved	AFAP-110, AFAP	uc011bwk.1	Q8N556	OTTHUMG00000125515	ENST00000360265.4:c.1007C>G	4.37:g.7811388G>C	ENSP00000353402:p.Ser336Cys					AFAP1_ENST00000382543.3_Missense_Mutation_p.S336C|AFAP1_ENST00000358461.2_Missense_Mutation_p.S336C|AFAP1_ENST00000360265.4_Missense_Mutation_p.S336C	p.S336C	NM_001134647.1	NP_001128119.1	Q8N556	AFAP1_HUMAN			9	1279	-			336					A8K442|B4DMU2|E9PDT7|Q59EY5|Q9HBY1	Missense_Mutation	SNP	ENST00000360265.4	37	c.1007C>G	CCDS3397.1	.	.	.	.	.	.	.	.	.	.	G	18.12	3.553412	0.65425	.	.	ENSG00000196526	ENST00000360265;ENST00000420658;ENST00000358461;ENST00000382543	T;T;T;T	0.14266	2.52;2.52;2.52;2.52	5.26	4.38	0.52667	.	0.137998	0.51477	D	0.000094	T	0.30947	0.0781	L	0.50333	1.59	0.52099	D	0.999948	D;P	0.89917	1.0;0.604	D;B	0.87578	0.998;0.323	T	0.01635	-1.1307	10	0.46703	T	0.11	-25.6003	14.2861	0.66247	0.0:0.2836:0.7164:0.0	.	336;336	E9PDT7;Q8N556	.;AFAP1_HUMAN	C	336	ENSP00000353402:S336C;ENSP00000410689:S336C;ENSP00000351245:S336C;ENSP00000371983:S336C	ENSP00000351245:S336C	S	-	2	0	AFAP1	7862288	1.000000	0.71417	0.871000	0.34182	0.759000	0.43091	6.785000	0.75089	1.285000	0.44548	0.655000	0.94253	TCC		0.507	AFAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246842.2	NM_021638		10	22	0	0	0	1	0	10	22					C	7811388	G	C	7811388	3	2	221	1	0	0	0	0	1	0	0	0	353	1174	41	5	1477	5	AFAP1	4	7811388	Missense_Mutation	SNP	G	TCGA-HC-7752-01A-11D-2114-08		7811388	183342888	13	10202											
UGT2B10	7365	broad.mit.edu	37	chr4	69682325	69682326	+	Frame_Shift_Ins	INS	-	-	C																															cttcctacgtacctgttgttINSatgtcaaaattaagtgatca																										TCGA-HC-7752-01A-11D-2114-08	TCGA-HC-7752-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	109ba14b-307b-4a23-b09d-643fa235d0ff	bb02213c-0f97-4cea-a808-094166184ac9	g.chr4:69682325_69682326insC	ENST00000265403.7	+	1	615_616	c.588_589insC	c.(589-591)atgfs	p.M197fs	UGT2B10_ENST00000458688.2_Intron	NM_001075.4	NP_001066.1	P36537	UDB10_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B10	197					lipid metabolic process (GO:0006629)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)			endometrium(3)|kidney(4)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	29						TACCTGTTGTTATGTCAAAATT	0.356																																					Melanoma(133;755 1763 25578 26334 46021)	ENST00000265403.7																			0				endometrium(3)|kidney(4)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	29						c.(586-591)gttgtcfs		UDP glucuronosyltransferase 2 family, polypeptide B10																																				SO:0001589	frameshift_variant	7365				lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	g.chr4:69682325_69682326insC	X63359	CCDS75135.1, CCDS75136.1	4q13.3	2008-02-05	2005-07-20			ENSG00000109181		"UDP glucuronosyltransferases"	12544	protein-coding gene	gene with protein product		600070	"UDP glycosyltransferase 2 family, polypeptide B10"			8333863	Standard	NM_001075		Approved		uc003hee.3	P36537		Exception_encountered	4.37:g.69682325_69682326insC	ENSP00000265403:p.Met197fs					UGT2B10_ENST00000458688.2_Intron	p.V197fs	NM_001075.4	NP_001066.1	P36537	UDB10_HUMAN			1	615_616	+			197					A8K9M3|B4DPP1|Q14CR8	Frame_Shift_Ins	INS	ENST00000265403.7	37	c.588_589insC																																																																																					0.356	UGT2B10-001	KNOWN	non_canonical_polymorphism|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000365169.1	NM_001075		25	39						25	39	---	---	---	---	C	69682326	-	C	69682325	7	5	221	1	0	1	1	0	0	0	0	0	16953	1741	61	0	590	0	UGT2B10	4	69682325	Frame_Shift_Ins	INS	-	TCGA-HC-7752-01A-11D-2114-08	61870937	69682325	121471951	14	10203											
FAM190A	401145	broad.mit.edu	37	chr4	91230659	91230659	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gcaatagcggaacatgtaaaAgggatccatcctatttcaga	15	9	9	8	1	1	1	1	0	0	1	3	3	3	3	2	2	2	2	2	2	6	4			TCGA-HC-7752-01A-11D-2114-08	TCGA-HC-7752-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	109ba14b-307b-4a23-b09d-643fa235d0ff	bb02213c-0f97-4cea-a808-094166184ac9	g.chr4:91230659A>G	ENST00000509176.1	+	2	1512	c.1224A>G	c.(1222-1224)aaA>aaG	p.K408K	CCSER1_ENST00000432775.2_Silent_p.K408K|CCSER1_ENST00000333691.8_Silent_p.K408K	NM_001145065.1	NP_001138537.1	Q9C0I3	CCSE1_HUMAN	coiled-coil serine-rich protein 1	408																	AACATGTAAAAGGGATCCATC	0.358																																						ENST00000509176.1																			0											c.(1222-1224)aaA>aaG		coiled-coil serine-rich protein 1							116	113	114					4																	91230659		1861	4087	5948	SO:0001819	synonymous_variant	401145							g.chr4:91230659A>G		CCDS47099.1, CCDS47100.1	4q22.1	2012-12-03	2012-12-03	2012-12-03	ENSG00000184305	ENSG00000184305			29349	protein-coding gene	gene with protein product			"family with sequence similarity 190, member A"	FAM190A		11214970	Standard	NM_001145065		Approved	KIAA1680	uc003hsv.4	Q9C0I3	OTTHUMG00000160950	ENST00000509176.1:c.1224A>G	4.37:g.91230659A>G						CCSER1_ENST00000333691.8_Silent_p.K408K|CCSER1_ENST00000432775.2_Silent_p.K408K	p.K408K	NM_001145065.1	NP_001138537.1					2	1512	+								Q4W5M0|Q86V57	Silent	SNP	ENST00000509176.1	37	c.1224A>G	CCDS47099.1																																																																																				0.358	CCSER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363109.3	NM_001145065		3	163	0	0	0	1	0	3	163					G	91230659	A	G	91230659	2	3	221	1	0	0	0	0	0	0	0	1	5521	69	3	4		4	FAM190A	4	91230659	Silent	SNP	A	TCGA-HC-7752-01A-11D-2114-08	21548334	91230659	99923617	15	10204											
PAPD7	11044	broad.mit.edu	37	chr5	6738818	6738818	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acagatatttggcagctttaGtacaggtctttatcttccaa	11	15	7	8	0	2	1	0	0	2	1	3	1	3	1	1	2	2	3	1	2	5	8			TCGA-HC-7752-01A-11D-2114-08	TCGA-HC-7752-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	109ba14b-307b-4a23-b09d-643fa235d0ff	bb02213c-0f97-4cea-a808-094166184ac9	g.chr5:6738818G>A	ENST00000230859.6	+	3	242	c.113G>A	c.(112-114)aGt>aAt	p.S38N		NM_001171805.1|NM_001171806.1|NM_006999.4	NP_001165276.1|NP_001165277.1|NP_008930.1	Q5XG87	PAPD7_HUMAN	PAP associated domain containing 7	268	Ala-rich.				double-strand break repair (GO:0006302)|mitotic chromosome condensation (GO:0007076)|response to drug (GO:0042493)|sister chromatid cohesion (GO:0007062)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|polynucleotide adenylyltransferase activity (GO:0004652)|SMC family protein binding (GO:0043221)			cervix(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(2)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						GGCAGCTTTAGTACAGGTCTT	0.418																																					NSCLC(7;212 333 5667 23379 46547)	ENST00000230859.6																			0				cervix(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(2)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						c.(112-114)aGt>aAt		PAP associated domain containing 7							217	225	223					5																	6738818		2203	4300	6503	SO:0001583	missense	11044				cell division|DNA replication|double-strand break repair|mitotic chromosome condensation|response to drug|sister chromatid cohesion	nucleus	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|SMC protein binding	g.chr5:6738818G>A	AF089896	CCDS3871.1	5p15	2010-11-18	2010-01-19	2010-01-19	ENSG00000112941	ENSG00000112941			16705	protein-coding gene	gene with protein product	"topoisomerase-related function protein 4-1", "polymerase (DNA-directed) sigma", "DNA polymerase kappa", "TUTase5"	605198	"polymerase (DNA directed) sigma"	POLS		10066793, 10926539	Standard	NM_006999		Approved	POLK, TRF4, LAK-1, TRF4-1	uc003jdx.1	Q5XG87	OTTHUMG00000090457	ENST00000230859.6:c.113G>A	5.37:g.6738818G>A	ENSP00000230859:p.Ser38Asn						p.S38N	NM_001171805.1|NM_001171806.1|NM_006999.4	NP_001165276.1|NP_001165277.1|NP_008930.1	Q5XG87	PAPD7_HUMAN			3	242	+			38					A8K1E2|M1JCE6|O43289|Q17RZ1|Q9Y6C1	Missense_Mutation	SNP	ENST00000230859.6	37	c.113G>A	CCDS3871.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.139746	0.77775	.	.	ENSG00000112941	ENST00000230859	T	0.43688	0.94	4.84	4.84	0.62591	Nucleotidyl transferase domain (1);	0.000000	0.85682	D	0.000000	T	0.42177	0.1191	L	0.60067	1.865	0.48696	D	0.99969	P;P	0.37548	0.599;0.599	B;B	0.42062	0.374;0.27	T	0.19943	-1.0290	10	0.23891	T	0.37	-7.5591	11.7929	0.52080	0.0811:0.0:0.9189:0.0	.	38;38	B7ZLL4;Q5XG87	.;PAPD7_HUMAN	N	38	ENSP00000230859:S38N	ENSP00000230859:S38N	S	+	2	0	PAPD7	6791818	1.000000	0.71417	0.966000	0.40874	0.998000	0.95712	5.835000	0.69368	2.386000	0.81285	0.563000	0.77884	AGT		0.418	PAPD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206904.1	NM_006999		84	112	0	0	0	1	0	84	112					A	6738818	G	A	6738818	3	1	221	1	0	0	0	0	1	0	0	0	11426	1029	36	3	119	3	PAPD7	5	6738818	Missense_Mutation	SNP	G	TCGA-HC-7752-01A-11D-2114-08		6738818	174176442	16	10205											
ADAMTS12	81792	broad.mit.edu	37	chr5	33576475	33576475	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gcctttggctggggagcagtCcttccattactgtgctgaag	6	12	13	10	0	0	1	0	1	0	0	2	2	2	2	3	3	3	3	3	3	2	3			TCGA-HC-7752-01A-11D-2114-08	TCGA-HC-7752-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	109ba14b-307b-4a23-b09d-643fa235d0ff	bb02213c-0f97-4cea-a808-094166184ac9	g.chr5:33576475C>A	ENST00000504830.1	-	19	3991	c.3656G>T	c.(3655-3657)gGa>gTa	p.G1219V	ADAMTS12_ENST00000352040.3_Missense_Mutation_p.G1134V|ADAMTS12_ENST00000504582.1_5'Flank	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	1219	Spacer 2.				cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cellular response to BMP stimulus (GO:0071773)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of cellular response to hepatocyte growth factor stimulus (GO:2001113)|negative regulation of cellular response to vascular endothelial growth factor stimulus (GO:1902548)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of hepatocyte growth factor receptor signaling pathway (GO:1902203)|proteoglycan catabolic process (GO:0030167)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of endothelial tube morphogenesis (GO:1901509)|regulation of inflammatory response (GO:0050727)	extracellular matrix (GO:0031012)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						GGGGAGCAGTCCTTCCATTAC	0.557										HNSCC(64;0.19)																												ENST00000504830.1																			0				NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						c.(3655-3657)gGa>gTa		ADAM metallopeptidase with thrombospondin type 1 motif, 12							150	142	145					5																	33576475		2203	4300	6503	SO:0001583	missense	81792				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:33576475C>A	AJ250725	CCDS34140.1	5q35	2008-07-18	2005-08-19		ENSG00000151388	ENSG00000151388		"ADAM metallopeptidases with thrombospondin type 1 motif"	14605	protein-coding gene	gene with protein product		606184	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 12"			11279086	Standard	NM_030955		Approved		uc003jia.1	P58397	OTTHUMG00000162088	ENST00000504830.1:c.3656G>T	5.37:g.33576475C>A	ENSP00000422554:p.Gly1219Val	HNSCC(64;0.19)				ADAMTS12_ENST00000352040.3_Missense_Mutation_p.G1134V	p.G1219V	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN			19	3991	-			1219			Spacer 2.		A2RRN9|A5D6V6|Q6UWL3	Missense_Mutation	SNP	ENST00000504830.1	37	c.3656G>T	CCDS34140.1	.	.	.	.	.	.	.	.	.	.	C	11.96	1.795595	0.31777	.	.	ENSG00000151388	ENST00000504830;ENST00000352040	T;T	0.60672	0.19;0.17	5.18	4.3	0.51218	.	0.439260	0.24022	N	0.042268	T	0.55625	0.1932	L	0.32530	0.975	0.24770	N	0.992873	D;P	0.53619	0.961;0.935	P;P	0.54372	0.75;0.567	T	0.46978	-0.9152	10	0.40728	T	0.16	.	10.1707	0.42908	0.0:0.848:0.0:0.152	.	1134;1219	P58397-3;P58397	.;ATS12_HUMAN	V	1219;1134	ENSP00000422554:G1219V;ENSP00000344847:G1134V	ENSP00000344847:G1134V	G	-	2	0	ADAMTS12	33612232	0.241000	0.23857	0.309000	0.25155	0.225000	0.24961	0.513000	0.22770	2.679000	0.91253	0.655000	0.94253	GGA		0.557	ADAMTS12-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367164.2	NM_030955		48	58	1	0	1.46357e-32	1	1.72968e-32	48	58					A	33576475	C	A	33576475	3	1	221	1	0	0	0	0	1	0	0	0	257	855	30	5	1152	5	ADAMTS12	5	33576475	Missense_Mutation	SNP	C	TCGA-HC-7752-01A-11D-2114-08	26837657	33576475	147338785	17	10206											
GRIA1	2890	broad.mit.edu	37	chr5	153190627	153190627	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aatccatcaacgaagccataCggacatcgaccctcccccgc	12	5	6	18	4	1	0	1	0	0	0	4	3	3	1	5	1	3	0	5	1	4	1			TCGA-HC-7752-01A-11D-2114-08	TCGA-HC-7752-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	109ba14b-307b-4a23-b09d-643fa235d0ff	bb02213c-0f97-4cea-a808-094166184ac9	g.chr5:153190627C>T	ENST00000285900.5	+	16	2906	c.2563C>T	c.(2563-2565)Cgg>Tgg	p.R855W	GRIA1_ENST00000518783.1_Missense_Mutation_p.R865W|GRIA1_ENST00000521843.2_Missense_Mutation_p.R786W|GRIA1_ENST00000448073.4_Missense_Mutation_p.R865W|GRIA1_ENST00000518142.1_Missense_Mutation_p.R775W|GRIA1_ENST00000340592.5_Missense_Mutation_p.R855W	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1	855					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|long-term memory (GO:0007616)|receptor internalization (GO:0031623)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|axonal spine (GO:0044308)|cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|dendrite membrane (GO:0032590)|dendritic spine (GO:0043197)|endocytic vesicle membrane (GO:0030666)|endoplasmic reticulum (GO:0005783)|neuron spine (GO:0044309)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|PDZ domain binding (GO:0030165)			NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Perampanel(DB08883)|Sevoflurane(DB01236)	CGAAGCCATACGGACATCGAC	0.592																																						ENST00000285900.5																			0				NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81						c.(2563-2565)Cgg>Tgg		glutamate receptor, ionotropic, AMPA 1	Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)						64	67	66					5																	153190627		2203	4300	6503	SO:0001583	missense	0				synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding	g.chr5:153190627C>T		CCDS4322.1, CCDS47318.1, CCDS58986.1, CCDS58987.1, CCDS58988.1, CCDS58989.1	5q33	2012-08-29			ENSG00000155511	ENSG00000155511		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4571	protein-coding gene	gene with protein product		138248		GLUR1		1652753, 1319477	Standard	NM_000827		Approved	GluA1, GLURA	uc011dcy.2	P42261	OTTHUMG00000130148	ENST00000285900.5:c.2563C>T	5.37:g.153190627C>T	ENSP00000285900:p.Arg855Trp					GRIA1_ENST00000518142.1_Missense_Mutation_p.R775W|GRIA1_ENST00000448073.4_Missense_Mutation_p.R865W|GRIA1_ENST00000340592.5_Missense_Mutation_p.R855W|GRIA1_ENST00000521843.2_Missense_Mutation_p.R786W|GRIA1_ENST00000518783.1_Missense_Mutation_p.R865W	p.R855W	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		16	2906	+		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	855					B7Z2S0|B7Z2W8|B7Z3F6|B7Z9G9|D3DQI4|E7ESV8|Q2NKM6	Missense_Mutation	SNP	ENST00000285900.5	37	c.2563C>T	CCDS4322.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.033868	0.75504	.	.	ENSG00000155511	ENST00000285900;ENST00000544403;ENST00000518142;ENST00000340592;ENST00000521843;ENST00000544794;ENST00000518783;ENST00000448073	T;T;T;T;T;T;T	0.14640	2.56;2.49;2.56;2.49;2.5;2.56;2.56	5.16	3.33	0.38152	.	0.057658	0.64402	D	0.000001	T	0.28995	0.0720	L	0.50333	1.59	0.53005	D	0.999968	D;D;D;D;D	0.89917	0.999;0.999;1.0;0.999;1.0	P;P;D;P;D	0.67725	0.642;0.642;0.915;0.804;0.953	T	0.01087	-1.1456	10	0.87932	D	0	.	13.146	0.59461	0.2919:0.7081:0.0:0.0	.	865;865;775;855;855	E7ESV8;B7Z9G9;B7Z3F6;P42261-2;P42261	.;.;.;.;GRIA1_HUMAN	W	855;855;775;855;788;786;865;865	ENSP00000285900:R855W;ENSP00000427920:R775W;ENSP00000339343:R855W;ENSP00000427864:R788W;ENSP00000442108:R786W;ENSP00000428994:R865W;ENSP00000415569:R865W	ENSP00000285900:R855W	R	+	1	2	GRIA1	153170820	0.997000	0.39634	1.000000	0.80357	0.995000	0.86356	0.503000	0.22610	0.525000	0.28522	-0.181000	0.13052	CGG		0.592	GRIA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252456.3			20	34	0	0	0	1	0	20	34					T	153190627	C	T	153190627	3	4	221	1	0	0	0	0	1	0	0	0	6767	527	19	1	2744	1	GRIA1	5	153190627	Missense_Mutation	SNP	C	TCGA-HC-7752-01A-11D-2114-08	119614152	153190627	27724633	18	10207											
BAT3	7917	broad.mit.edu	37	chr6	31614196	31614196	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tattgtagtccgtggtggcaGcagcacccagaacctcgtag	9	9	12	11	2	0	1	0	0	0	1	2	1	1	1	3	2	3	5	3	2	4	4			TCGA-HC-7752-01A-11D-2114-08	TCGA-HC-7752-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	109ba14b-307b-4a23-b09d-643fa235d0ff	bb02213c-0f97-4cea-a808-094166184ac9	g.chr6:31614196G>A	ENST00000375964.6	-	8	1224	c.911C>T	c.(910-912)gCt>gTt	p.A304V	BAG6_ENST00000362049.6_Missense_Mutation_p.A298V|BAG6_ENST00000470875.1_5'Flank|BAG6_ENST00000439687.2_Missense_Mutation_p.A298V|BAG6_ENST00000375976.4_Missense_Mutation_p.A298V|BAG6_ENST00000404765.2_Missense_Mutation_p.A298V|BAG6_ENST00000211379.5_Missense_Mutation_p.A298V	NM_004639.3|NM_080703.2	NP_004630.3|NP_542434.1	P46379	BAG6_HUMAN	BCL2-associated athanogene 6	304	4 X 29 AA approximate repeats.				brain development (GO:0007420)|cell differentiation (GO:0030154)|chromatin modification (GO:0016568)|embryo development (GO:0009790)|immune system process (GO:0002376)|internal peptidyl-lysine acetylation (GO:0018393)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|kidney development (GO:0001822)|lung development (GO:0030324)|negative regulation of apoptotic process (GO:0043066)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|negative regulation of proteolysis (GO:0045861)|protein stabilization (GO:0050821)|regulation of cell proliferation (GO:0042127)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)|tail-anchored membrane protein insertion into ER membrane (GO:0071816)|transport (GO:0006810)|ubiquitin-dependent protein catabolic process (GO:0006511)	BAT3 complex (GO:0071818)|cytosol (GO:0005829)|nucleus (GO:0005634)	polyubiquitin binding (GO:0031593)|proteasome binding (GO:0070628)|ribosome binding (GO:0043022)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(2)|pancreas(2)|skin(3)|urinary_tract(2)	36						CGTGGTGGCAGCAGCACCCAG	0.572																																						ENST00000404765.2																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(2)|pancreas(2)|skin(3)|urinary_tract(2)	36						c.(892-894)gCt>gTt		BCL2-associated athanogene 6							118	111	114					6																	31614196		1511	2709	4220	SO:0001583	missense	7917				apoptosis in response to endoplasmic reticulum stress|brain development|cell differentiation|chromatin modification|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|embryo development|internal peptidyl-lysine acetylation|kidney development|lung development|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|protein stabilization|spermatogenesis|synaptonemal complex assembly|tail-anchored membrane protein insertion into ER membrane|transport|ubiquitin-dependent protein catabolic process	BAT3 complex|nucleus	polyubiquitin binding|proteasome binding|ribosome binding	g.chr6:31614196G>A	M31294	CCDS4709.1, CCDS47403.1, CCDS56414.1, CCDS56415.1	6p21.3	2011-06-14	2010-12-09	2010-12-09	ENSG00000204463	ENSG00000204463			13919	protein-coding gene	gene with protein product		142590	"HLA-B associated transcript 3"	BAT3		2156268	Standard	NM_004639		Approved	G3, D6S52E	uc003nvf.4	P46379	OTTHUMG00000031171	ENST00000375964.6:c.911C>T	6.37:g.31614196G>A	ENSP00000365131:p.Ala304Val					BAG6_ENST00000362049.6_Missense_Mutation_p.A298V|BAG6_ENST00000375976.4_Missense_Mutation_p.A298V|BAG6_ENST00000439687.2_Missense_Mutation_p.A298V|BAG6_ENST00000211379.5_Missense_Mutation_p.A298V|BAG6_ENST00000375964.6_Missense_Mutation_p.A304V	p.A298V			P46379	BAG6_HUMAN			8	1182	-			304			4 X 29 AA approximate repeats.		A2ADJ7|A3KQ42|A3KQ44|A6NGY6|A6PWF7|B0UX84|B4DZ12|B4E3V4|E7EMZ4|F8VXY4|O95874|Q5HYL9|Q5SQ35|Q5SQ36|Q5SQ37|Q5SQ41|Q5SRP8|Q5SRP9|Q5STC1|Q5STX1|Q5STX3|Q96SA6|Q9BCN4	Missense_Mutation	SNP	ENST00000375964.6	37	c.893C>T	CCDS47403.1	.	.	.	.	.	.	.	.	.	.	G	18.91	3.724273	0.68959	.	.	ENSG00000204463	ENST00000375976;ENST00000375964;ENST00000211379;ENST00000404765;ENST00000439687;ENST00000362049;ENST00000437771;ENST00000435080	T;T;T;T;T;T;T	0.56444	1.06;1.01;1.06;1.06;0.48;1.09;0.46	5.27	5.27	0.74061	.	0.000000	0.85682	D	0.000000	T	0.60958	0.2309	L	0.54323	1.7	0.58432	D	0.999999	D;D;D;D;D	0.76494	0.997;0.999;0.999;0.963;0.996	D;D;D;D;D	0.87578	0.992;0.994;0.998;0.966;0.986	T	0.55933	-0.8062	10	0.30854	T	0.27	.	17.6651	0.88201	0.0:0.0:1.0:0.0	.	298;298;298;304;298	E7EMZ4;F8VXY4;B0UX85;P46379;P46379-2	.;.;.;BAG6_HUMAN;.	V	298;304;298;298;298;298;298;298	ENSP00000365143:A298V;ENSP00000365131:A304V;ENSP00000211379:A298V;ENSP00000384494:A298V;ENSP00000402856:A298V;ENSP00000354875:A298V;ENSP00000397978:A298V	ENSP00000211379:A298V	A	-	2	0	BAG6	31722175	1.000000	0.71417	0.387000	0.26183	0.131000	0.20780	7.677000	0.84024	2.470000	0.83445	0.563000	0.77884	GCT		0.572	BAG6-203	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_080703		3	73	0	0	0	1	0	3	73					A	31614196	G	A	31614196	3	1	221	1	0	0	0	0	1	0	0	0	1322	971	34	3	2559	3	BAT3	6	31614196	Missense_Mutation	SNP	G	TCGA-HC-7752-01A-11D-2114-08		31614196	139500871	19	10208											
DLK2	65989	broad.mit.edu	37	chr6	43418675	43418675	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ggttggggggtctgggacagGtaagacaagctcacaggtct	9	8	17	7	0	3	1	1	0	2	1	3	2	3	2	0	7	1	3	0	7	2	2			TCGA-HC-7752-01A-11D-2114-08	TCGA-HC-7752-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	109ba14b-307b-4a23-b09d-643fa235d0ff	bb02213c-0f97-4cea-a808-094166184ac9	g.chr6:43418675G>A	ENST00000357338.3	-	6	1454	c.754C>T	c.(754-756)Cct>Tct	p.P252S	DLK2_ENST00000372485.1_Missense_Mutation_p.P246S|DLK2_ENST00000414245.1_Missense_Mutation_p.P246S|DLK2_ENST00000372488.3_Missense_Mutation_p.P252S	NM_206539.1	NP_996262.1	Q6UY11	DLK2_HUMAN	delta-like 2 homolog (Drosophila)	252					negative regulation of Notch signaling pathway (GO:0045746)|regulation of fat cell differentiation (GO:0045598)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	7	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)			TCTGGGACAGGTAAGACAAGC	0.672																																						ENST00000357338.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	7						c.(754-756)Cct>Tct		delta-like 2 homolog (Drosophila)							56	61	59					6																	43418675		2203	4300	6503	SO:0001583	missense	65989					integral to membrane	calcium ion binding	g.chr6:43418675G>A	AK055380	CCDS4897.1, CCDS75461.1	6p21.1	2008-02-05	2007-07-05	2007-07-05	ENSG00000171462	ENSG00000171462			21113	protein-coding gene	gene with protein product			"EGF-like-domain, multiple 9"	EGFL9			Standard	NM_001286656		Approved	MGC2487	uc003ovb.3	Q6UY11	OTTHUMG00000014735	ENST00000357338.3:c.754C>T	6.37:g.43418675G>A	ENSP00000349893:p.Pro252Ser					DLK2_ENST00000372488.3_Missense_Mutation_p.P252S|DLK2_ENST00000372485.1_Missense_Mutation_p.P246S|DLK2_ENST00000414245.1_Missense_Mutation_p.P246S	p.P252S	NM_206539.1	NP_996262.1	Q6UY11	DLK2_HUMAN	Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)		6	1454	-	all_lung(25;0.00536)		252					B3KNZ7|Q5T3T8|Q9BQ54	Missense_Mutation	SNP	ENST00000357338.3	37	c.754C>T	CCDS4897.1	.	.	.	.	.	.	.	.	.	.	G	10.45	1.352294	0.24512	.	.	ENSG00000171462	ENST00000372485;ENST00000372488;ENST00000357338;ENST00000414245	D;D;D;D	0.89485	-2.52;-2.47;-2.47;-2.52	4.94	4.94	0.65067	.	0.145360	0.47852	D	0.000205	D	0.88706	0.6509	L	0.29908	0.895	0.47778	D	0.999515	D	0.89917	1.0	D	0.80764	0.994	D	0.86522	0.1816	10	0.25106	T	0.35	.	18.5187	0.90944	0.0:0.0:1.0:0.0	.	252	Q6UY11	DLK2_HUMAN	S	246;252;252;246	ENSP00000361563:P246S;ENSP00000361566:P252S;ENSP00000349893:P252S;ENSP00000398906:P246S	ENSP00000349893:P252S	P	-	1	0	DLK2	43526653	0.514000	0.26202	0.667000	0.29798	0.089000	0.18198	1.471000	0.35365	2.454000	0.82982	0.462000	0.41574	CCT		0.672	DLK2-003	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040618.1	NM_023932		34	60	0	0	0	1	0	34	60					A	43418675	G	A	43418675	3	1	221	1	0	0	0	0	1	0	0	0	4565	1261	44	3	401	3	DLK2	6	43418675	Missense_Mutation	SNP	G	TCGA-HC-7752-01A-11D-2114-08	11804479	43418675	127696392	20	10209											
REPS1	85021	broad.mit.edu	37	chr6	139266690	139266690	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tatcatggcttacggatcccTttttcacttgccccctgcca	6	14	6	15	1	2	0	2	0	0	0	3	1	3	1	4	2	3	1	4	2	2	5			TCGA-HC-7752-01A-11D-2114-08	TCGA-HC-7752-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	109ba14b-307b-4a23-b09d-643fa235d0ff	bb02213c-0f97-4cea-a808-094166184ac9	g.chr6:139266690T>C	ENST00000450536.2	-	3	996	c.422A>G	c.(421-423)aAg>aGg	p.K141R	REPS1_ENST00000258062.5_Missense_Mutation_p.K141R|REPS1_ENST00000415951.2_Missense_Mutation_p.K141R|REPS1_ENST00000409812.2_Missense_Mutation_p.K141R|REPS1_ENST00000367663.4_Missense_Mutation_p.K141R|REPS1_ENST00000531675.1_5'Flank			Q96D71	REPS1_HUMAN	RALBP1 associated Eps domain containing 1	141					receptor-mediated endocytosis (GO:0006898)	coated pit (GO:0005905)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|SH3 domain binding (GO:0017124)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(2)	19				GBM - Glioblastoma multiforme(68;0.000434)|OV - Ovarian serous cystadenocarcinoma(155;0.000548)		TACGGATCCCTTTTTCACTTG	0.478																																						ENST00000450536.2																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(2)	19						c.(421-423)aAg>aGg		RALBP1 associated Eps domain containing 1							196	180	186					6																	139266690		2203	4300	6503	SO:0001583	missense	85021					coated pit|plasma membrane	calcium ion binding|SH3 domain binding	g.chr6:139266690T>C		CCDS5193.2, CCDS47488.1, CCDS69212.1, CCDS69213.1	6q24.1	2013-01-10			ENSG00000135597	ENSG00000135597		"EF-hand domain containing"	15578	protein-coding gene	gene with protein product		614825					Standard	XM_005267177		Approved		uc011edr.2	Q96D71	OTTHUMG00000015685	ENST00000450536.2:c.422A>G	6.37:g.139266690T>C	ENSP00000392065:p.Lys141Arg					REPS1_ENST00000258062.5_Missense_Mutation_p.K141R|REPS1_ENST00000415951.2_Missense_Mutation_p.K141R|REPS1_ENST00000367663.4_Missense_Mutation_p.K141R|REPS1_ENST00000409812.2_Missense_Mutation_p.K141R	p.K141R			Q96D71	REPS1_HUMAN		GBM - Glioblastoma multiforme(68;0.000434)|OV - Ovarian serous cystadenocarcinoma(155;0.000548)	3	996	-			141					B7ZBZ8|B7ZBZ9|B7ZC00|J3KP76|Q5JWJ5|Q5JWJ6|Q5JWJ7|Q8NDR7|Q8WU62|Q9BXY9	Missense_Mutation	SNP	ENST00000450536.2	37	c.422A>G		.	.	.	.	.	.	.	.	.	.	T	19.61	3.859918	0.71834	.	.	ENSG00000135597	ENST00000450536;ENST00000367663;ENST00000529597;ENST00000409812;ENST00000258062;ENST00000415951;ENST00000367668	T;T;T;T;T;T	0.33216	1.43;1.43;1.43;1.42;1.42;1.43	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	T	0.29783	0.0744	L	0.40543	1.245	0.47441	D	0.999424	D;P;D;P	0.67145	0.996;0.59;0.995;0.455	P;B;P;B	0.60609	0.877;0.081;0.776;0.055	T	0.02909	-1.1095	10	0.25751	T	0.34	-11.9965	14.408	0.67096	0.0:0.0:0.0:1.0	.	141;141;141;141	Q96D71-3;Q96D71-2;Q96D71;E9PMG1	.;.;REPS1_HUMAN;.	R	141;141;127;141;141;141;89	ENSP00000392065:K141R;ENSP00000356635:K141R;ENSP00000434251:K127R;ENSP00000386699:K141R;ENSP00000258062:K141R;ENSP00000397941:K141R	ENSP00000258062:K141R	K	-	2	0	REPS1	139308383	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.421000	0.73353	2.145000	0.66743	0.454000	0.30748	AAG		0.478	REPS1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000042447.3			4	188	0	0	0	1	0	4	188					C	139266690	T	C	139266690	3	2	221	1	0	0	0	0	1	0	0	0	13228	1609	56	4	2040	4	REPS1	6	139266690	Missense_Mutation	SNP	T	TCGA-HC-7752-01A-11D-2114-08	95848015	139266690	31848377	21	10210											
C7orf43	55262	broad.mit.edu	37	chr7	99753343	99753343	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggccacactgaaggtgagcGcgctgcccttccgggaaaag	10	5	14	12	3	0	2	0	2	0	0	1	3	1	3	3	3	2	1	3	3	3	1	rs372793432		TCGA-HC-7752-01A-11D-2114-08	TCGA-HC-7752-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	109ba14b-307b-4a23-b09d-643fa235d0ff	bb02213c-0f97-4cea-a808-094166184ac9	g.chr7:99753343G>A	ENST00000316937.3	-	9	1531	c.1346C>T	c.(1345-1347)gCg>gTg	p.A449V	C7orf43_ENST00000498638.1_5'Flank|C7orf43_ENST00000394035.2_Missense_Mutation_p.A25V|MIR4658_ENST00000584344.1_RNA|C7orf43_ENST00000457641.1_Missense_Mutation_p.A180V|C7orf43_ENST00000419841.1_Missense_Mutation_p.A217V	NM_018275.3	NP_060745.3	Q8WVR3	CG043_HUMAN	chromosome 7 open reading frame 43	449										breast(1)|endometrium(3)|large_intestine(3)|lung(2)|prostate(1)	10	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GAAGGTGAGCGCGCTGCCCTT	0.657																																						ENST00000316937.3																			0				breast(1)|endometrium(3)|large_intestine(3)|lung(2)|prostate(1)	10						c.(1345-1347)gCg>gTg		chromosome 7 open reading frame 43		G	VAL/ALA	0,4406		0,0,2203	81	83	82		1346	5.7	0.8	7		82	1,8599	1.2+/-3.3	0,1,4299	no	missense	C7orf43	NM_018275.3	64	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	449/581	99753343	1,13005	2203	4300	6503	SO:0001583	missense	55262							g.chr7:99753343G>A		CCDS5687.1	7q22.1	2011-11-25			ENSG00000146826	ENSG00000146826			25604	protein-coding gene	gene with protein product						12477932	Standard	NM_018275		Approved	FLJ10925	uc003utr.3	Q8WVR3	OTTHUMG00000154862	ENST00000316937.3:c.1346C>T	7.37:g.99753343G>A	ENSP00000324741:p.Ala449Val					C7orf43_ENST00000457641.1_Missense_Mutation_p.A180V|C7orf43_ENST00000419841.1_Missense_Mutation_p.A217V|C7orf43_ENST00000394035.2_Missense_Mutation_p.A25V	p.A449V	NM_018275.3	NP_060745.3	Q8WVR3	CG043_HUMAN			9	1531	-	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		449					A4D2A9|D6W5U4|Q9BQJ1|Q9BUB6|Q9NV47	Missense_Mutation	SNP	ENST00000316937.3	37	c.1346C>T	CCDS5687.1	.	.	.	.	.	.	.	.	.	.	G	29.2	4.986149	0.93044	0.0	1.16E-4	ENSG00000146826	ENST00000394035;ENST00000457641;ENST00000316937;ENST00000275726;ENST00000419841	T;T;T;T	0.23348	1.91;1.91;1.91;1.91	5.66	5.66	0.87406	.	0.064960	0.64402	D	0.000009	T	0.19087	0.0458	N	0.08118	0	0.43211	D	0.99507	P;D;D;P	0.56287	0.514;0.975;0.975;0.947	B;P;P;B	0.46299	0.122;0.511;0.511;0.196	T	0.05289	-1.0894	10	0.72032	D	0.01	-15.6726	15.235	0.73422	0.0:0.0:1.0:0.0	.	217;71;75;449	E9PFF9;Q8WVR3-2;Q8WVR3-3;Q8WVR3	.;.;.;CG043_HUMAN	V	25;180;449;71;217	ENSP00000377600:A25V;ENSP00000396432:A180V;ENSP00000324741:A449V;ENSP00000406326:A217V	ENSP00000275726:A71V	A	-	2	0	C7orf43	99591279	1.000000	0.71417	0.806000	0.32338	0.960000	0.62799	5.071000	0.64382	2.667000	0.90743	0.561000	0.74099	GCG		0.657	C7orf43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337395.2	NM_018275		4	88	0	0	0	1	0	4	88					A	99753343	G	A	99753343	3	1	221	1	0	0	0	0	1	0	0	0	2393	1087	38	1	408	1	C7orf43	7	99753343	Missense_Mutation	SNP	G	TCGA-HC-7752-01A-11D-2114-08		99753343	59385320	22	10211											
LAMB1	3912	broad.mit.edu	37	chr7	107569561	107569561	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttcatctgcttgtttaattGccttctctgctgcgacctgg	4	17	8	12	1	3	0	1	0	2	0	4	1	3	0	2	1	4	3	2	1	1	6			TCGA-HC-7752-01A-11D-2114-08	TCGA-HC-7752-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	109ba14b-307b-4a23-b09d-643fa235d0ff	bb02213c-0f97-4cea-a808-094166184ac9	g.chr7:107569561G>A	ENST00000222399.6	-	31	5065	c.4835C>T	c.(4834-4836)gCa>gTa	p.A1612V	LAMB1_ENST00000474380.1_5'Flank|LAMB1_ENST00000393561.1_Missense_Mutation_p.A1636V	NM_002291.2	NP_002282.2	P07942	LAMB1_HUMAN	laminin, beta 1	1612	Domain I.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|embryo implantation (GO:0007566)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of cell adhesion (GO:0007162)|neuron projection development (GO:0031175)|neuronal-glial interaction involved in cerebral cortex radial glia guided migration (GO:0021812)|odontogenesis (GO:0042476)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell proliferation (GO:0050679)|substrate adhesion-dependent cell spreading (GO:0034446)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-2 complex (GO:0005607)|laminin-8 complex (GO:0043257)|perinuclear region of cytoplasm (GO:0048471)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)|structural molecule activity (GO:0005198)			NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)	82						TTGTTTAATTGCCTTCTCTGC	0.418																																						ENST00000393561.1																			0				NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)	82						c.(4906-4908)gCa>gTa		laminin, beta 1	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						305	274	285					7																	107569561		2203	4300	6503	SO:0001583	missense	3912				axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm	extracellular matrix structural constituent	g.chr7:107569561G>A	M61916	CCDS5750.1	7q22	2013-03-01			ENSG00000091136	ENSG00000091136		"Laminins"	6486	protein-coding gene	gene with protein product		150240	"cutis laxa with marfanoid phenotype"	CLM		2563160, 2704655, 1864606	Standard	NM_002291		Approved		uc003vew.2	P07942	OTTHUMG00000149966	ENST00000222399.6:c.4835C>T	7.37:g.107569561G>A	ENSP00000222399:p.Ala1612Val					LAMB1_ENST00000222399.6_Missense_Mutation_p.A1612V	p.A1636V			P07942	LAMB1_HUMAN			29	5091	-			1612			Domain I.		Q14D91	Missense_Mutation	SNP	ENST00000222399.6	37	c.4907C>T	CCDS5750.1	.	.	.	.	.	.	.	.	.	.	G	36	5.895026	0.97074	.	.	ENSG00000091136	ENST00000393561;ENST00000222399	T;T	0.77750	-1.12;-1.12	5.96	5.96	0.96718	Prefoldin (1);	.	.	.	.	D	0.88698	0.6507	M	0.76574	2.34	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.83275	0.987;0.988;0.996	D	0.87953	0.2725	9	0.56958	D	0.05	.	20.422	0.99049	0.0:0.0:1.0:0.0	.	1612;1636;909	P07942;G3XAI2;Q8TAS6	LAMB1_HUMAN;.;.	V	1636;1612	ENSP00000377191:A1636V;ENSP00000222399:A1612V	ENSP00000222399:A1612V	A	-	2	0	LAMB1	107356797	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	9.258000	0.95555	2.832000	0.97577	0.655000	0.94253	GCA		0.418	LAMB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314584.1	NM_002291		8	157	0	0	0	1	0	8	157					A	107569561	G	A	107569561	3	1	221	1	0	0	0	0	1	0	0	0	8610	1319	46	3	541	3	LAMB1	7	107569561	Missense_Mutation	SNP	G	TCGA-HC-7752-01A-11D-2114-08	7816218	107569561	51569102	23	10212											
TRAM1	23471	broad.mit.edu	37	chr8	71496023	71496023	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	caaaaagaactgcccacagaGaaaatctgcaagaaaaaggc	21	3	8	9	0	1	3	0	0	1	3	1	4	1	3	1	1	3	1	1	1	8	0			TCGA-HC-7752-01A-11D-2114-08	TCGA-HC-7752-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	109ba14b-307b-4a23-b09d-643fa235d0ff	bb02213c-0f97-4cea-a808-094166184ac9	g.chr8:71496023G>A	ENST00000262213.2	-	9	921	c.752C>T	c.(751-753)tCt>tTt	p.S251F	TRAM1_ENST00000536748.1_Missense_Mutation_p.S220F|TRAM1_ENST00000521425.1_Missense_Mutation_p.S165F|TRAM1_ENST00000521049.1_5'UTR	NM_014294.5	NP_055109.1	Q15629	TRAM1_HUMAN	translocation associated membrane protein 1	251	TLC. {ECO:0000255|PROSITE- ProRule:PRU00205}.				cellular protein metabolic process (GO:0044267)|cotranslational protein targeting to membrane (GO:0006613)|gene expression (GO:0010467)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|viral process (GO:0016032)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)	17			Epithelial(68;0.00679)|all cancers(69;0.0324)|OV - Ovarian serous cystadenocarcinoma(28;0.0509)			TGCCCACAGAGAAAATCTGCA	0.403																																					Ovarian(85;984 1334 5116 12432 40638)	ENST00000521425.1																			0				endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)	17						c.(493-495)tCt>tTt		translocation associated membrane protein 1							66	73	71					8																	71496023		2202	4300	6502	SO:0001583	missense	23471				cotranslational protein targeting to membrane|transmembrane transport	endoplasmic reticulum membrane|integral to membrane	protein binding|receptor activity	g.chr8:71496023G>A	X63679	CCDS6207.1	8q13.1	2004-01-22			ENSG00000067167	ENSG00000067167			20568	protein-coding gene	gene with protein product		605190				1315422	Standard	NM_014294		Approved	TRAM, TRAMP	uc003xyo.2	Q15629	OTTHUMG00000164428	ENST00000262213.2:c.752C>T	8.37:g.71496023G>A	ENSP00000262213:p.Ser251Phe					TRAM1_ENST00000262213.2_Missense_Mutation_p.S251F|TRAM1_ENST00000536748.1_Missense_Mutation_p.S220F|TRAM1_ENST00000521049.1_5'UTR	p.S165F			Q15629	TRAM1_HUMAN	Epithelial(68;0.00679)|all cancers(69;0.0324)|OV - Ovarian serous cystadenocarcinoma(28;0.0509)		9	1530	-			251			TLC.		B4E0K2	Missense_Mutation	SNP	ENST00000262213.2	37	c.494C>T	CCDS6207.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.174162	0.78452	.	.	ENSG00000067167	ENST00000521425;ENST00000262213;ENST00000536748	D;D;D	0.84873	-1.91;-1.91;-1.91	5.4	5.4	0.78164	TRAM/LAG1/CLN8 homology domain (3);	0.225652	0.44285	D	0.000466	D	0.89663	0.6780	L	0.59436	1.845	0.50039	D	0.999849	D	0.57899	0.981	D	0.64687	0.928	D	0.85596	0.1249	10	0.12103	T	0.63	-23.6741	19.1656	0.93555	0.0:0.0:1.0:0.0	.	251	Q15629	TRAM1_HUMAN	F	165;251;220	ENSP00000428052:S165F;ENSP00000262213:S251F;ENSP00000439359:S220F	ENSP00000262213:S251F	S	-	2	0	TRAM1	71658577	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.268000	0.65536	2.539000	0.85634	0.557000	0.71058	TCT		0.403	TRAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378738.1	NM_014294		24	24	0	0	0	1	0	24	24					A	71496023	G	A	71496023	3	1	221	1	0	0	0	0	1	0	0	0	16448	942	33	3	384	3	TRAM1	8	71496023	Missense_Mutation	SNP	G	TCGA-HC-7752-01A-11D-2114-08		71496023	74867999	24	10213											
KIAA1217	56243	broad.mit.edu	37	chr10	24669920	24669920	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gagggggatgctccaaccccTttttccagaggcagccggac	8	7	13	13	1	0	1	0	0	0	1	2	4	2	3	5	4	3	2	5	4	1	2			TCGA-HC-7752-01A-11D-2114-08	TCGA-HC-7752-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	109ba14b-307b-4a23-b09d-643fa235d0ff	bb02213c-0f97-4cea-a808-094166184ac9	g.chr10:24669920T>C	ENST00000376454.3	+	3	507	c.477T>C	c.(475-477)ccT>ccC	p.P159P	KIAA1217_ENST00000376462.1_Silent_p.P79P|KIAA1217_ENST00000458595.1_Silent_p.P159P|KIAA1217_ENST00000430453.2_Silent_p.P80P|KIAA1217_ENST00000376452.3_Silent_p.P159P	NM_019590.3	NP_062536.2	Q5T5P2	SKT_HUMAN	KIAA1217	159					embryonic skeletal system development (GO:0048706)	cytoplasm (GO:0005737)				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						CTCCAACCCCTTTTTCCAGAG	0.542																																						ENST00000376454.3																			0				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						c.(475-477)ccT>ccC		KIAA1217							62	63	63					10																	24669920		2203	4300	6503	SO:0001819	synonymous_variant	56243				embryonic skeletal system development	cytoplasm		g.chr10:24669920T>C	BX640796	CCDS31165.1, CCDS41496.1, CCDS60501.1, CCDS60502.1, CCDS60504.1, CCDS60505.1	10p12.31	2009-09-16			ENSG00000120549	ENSG00000120549			25428	protein-coding gene	gene with protein product	"sickle tail"					10574462	Standard	XM_005252500		Approved	DKFZP761L0424, SKT	uc001iru.4	Q5T5P2	OTTHUMG00000017824	ENST00000376454.3:c.477T>C	10.37:g.24669920T>C						KIAA1217_ENST00000458595.1_Silent_p.P159P|KIAA1217_ENST00000430453.2_Silent_p.P80P|KIAA1217_ENST00000376462.1_Silent_p.P79P|KIAA1217_ENST00000376452.3_Silent_p.P159P	p.P159P	NM_019590.3	NP_062536.2	Q5T5P2	SKT_HUMAN			3	507	+			159					A5LHW9|A6NLF3|A6PVQ5|A6PVQ6|A6PVQ7|B9EGK4|Q4KMG4|Q5T5P3|Q5T7H3|Q6MZZ6|Q6ZUI4|Q8WV45|Q9NSR2|Q9ULK3	Silent	SNP	ENST00000376454.3	37	c.477T>C	CCDS31165.1																																																																																				0.542	KIAA1217-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047223.2	NM_019590		3	63	0	0	0	1	0	3	63					C	24669920	T	C	24669920	2	2	221	1	0	0	0	0	0	0	0	1	8216	1596	56	4		4	KIAA1217	10	24669920	Silent	SNP	T	TCGA-HC-7752-01A-11D-2114-08		24669920	110864827	25	10214											
GAD2	2572	broad.mit.edu	37	chr10	26575312	26575312	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	aaccaaatgcatgcctcctaCctctttcagcaagataaaca	15	9	4	13	0	2	1	1	0	1	1	3	1	3	1	4	0	6	2	4	0	6	3			TCGA-HC-7752-01A-11D-2114-08	TCGA-HC-7752-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	109ba14b-307b-4a23-b09d-643fa235d0ff	bb02213c-0f97-4cea-a808-094166184ac9	g.chr10:26575312C>G	ENST00000376261.3	+	13	1778	c.1275C>G	c.(1273-1275)taC>taG	p.Y425*	GAD2_ENST00000259271.3_Nonsense_Mutation_p.Y425*	NM_001134366.1	NP_001127838.1	Q05329	DCE2_HUMAN	glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa)	425					glutamate decarboxylation to succinate (GO:0006540)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter secretion (GO:0007269)|response to drug (GO:0042493)|synaptic transmission (GO:0007268)	anchored component of membrane (GO:0031225)|axon (GO:0030424)|cell junction (GO:0030054)|clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane (GO:0061202)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|synaptic vesicle membrane (GO:0030672)	glutamate binding (GO:0016595)|glutamate decarboxylase activity (GO:0004351)|pyridoxal phosphate binding (GO:0030170)			central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(26)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						ATGCCTCCTACCTCTTTCAGC	0.393																																						ENST00000376261.3																			0				central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(26)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						c.(1273-1275)taC>taG		glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa)	L-Glutamic Acid(DB00142)						129	111	117					10																	26575312		2203	4300	6503	SO:0001587	stop_gained	2572				glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion	cell junction|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|Golgi membrane|presynaptic membrane	glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding	g.chr10:26575312C>G	AJ251501	CCDS7149.1	10p13-p11.2	2003-11-11	2002-08-29		ENSG00000136750	ENSG00000136750	4.1.1.15		4093	protein-coding gene	gene with protein product		138275	"glutamate decarboxylase 2 (pancreatic islets and brain, 65kD)"			2039509	Standard	NM_000818		Approved	GAD65	uc001isp.2	Q05329	OTTHUMG00000017836	ENST00000376261.3:c.1275C>G	10.37:g.26575312C>G	ENSP00000365437:p.Tyr425*					GAD2_ENST00000259271.3_Nonsense_Mutation_p.Y425*	p.Y425*	NM_001134366.1	NP_001127838.1	Q05329	DCE2_HUMAN			13	1778	+			425					Q9UD87	Nonsense_Mutation	SNP	ENST00000376261.3	37	c.1275C>G	CCDS7149.1	.	.	.	.	.	.	.	.	.	.	C	38	6.794103	0.97845	.	.	ENSG00000136750	ENST00000376261;ENST00000259271	.	.	.	4.98	4.08	0.47627	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-15.5209	13.1568	0.59522	0.0:0.9228:0.0:0.0772	.	.	.	.	X	425	.	ENSP00000259271:Y425X	Y	+	3	2	GAD2	26615318	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.777000	0.55364	1.092000	0.41356	0.655000	0.94253	TAC		0.393	GAD2-001	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047255.1	NM_000818		29	39	0	0	0	1	0	29	39					G	26575312	C	G	26575312	4	3	221	1	0	0	0	0	0	1	0	0	6180	518	18	5	1325	5	GAD2	10	26575312	Nonsense_Mutation	SNP	C	TCGA-HC-7752-01A-11D-2114-08	1905392	26575312	108959435	26	10215											
FAM21C	253725	broad.mit.edu	37	chr10	46248088	46248088	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgaccgacgaggacttctcGccatttggctctggaggtgg	6	10	14	11	3	2	1	0	1	2	0	3	5	2	3	2	5	0	1	2	5	0	2			TCGA-HC-7752-01A-11D-2114-08	TCGA-HC-7752-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	109ba14b-307b-4a23-b09d-643fa235d0ff	bb02213c-0f97-4cea-a808-094166184ac9	g.chr10:46248088G>A	ENST00000336378.4	+	12	1174	c.1056G>A	c.(1054-1056)tcG>tcA	p.S352S	FAM21C_ENST00000359860.4_Silent_p.S296S|FAM21C_ENST00000374362.2_Silent_p.S352S|FAM21C_ENST00000537517.1_Silent_p.S328S|FAM21C_ENST00000540872.1_Silent_p.S352S	NM_015262.2	NP_056077.2	Q9Y4E1	FA21C_HUMAN	family with sequence similarity 21, member C	352					retrograde transport, endosome to Golgi (GO:0042147)	early endosome (GO:0005769)|endosome (GO:0005768)|plasma membrane (GO:0005886)|WASH complex (GO:0071203)		p.S351S(1)		central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	28						AGGACTTCTCGCCATTTGGCT	0.532																																						ENST00000336378.4																			1	Substitution - coding silent(1)	p.S351S(1)	lung(1)	central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	28						c.(1054-1056)tcG>tcA		family with sequence similarity 21, member C							79	90	87					10																	46248088		1892	4104	5996	SO:0001819	synonymous_variant	253725							g.chr10:46248088G>A		CCDS44374.1, CCDS44374.2, CCDS53528.1, CCDS53529.1	10q11.22	2014-05-09			ENSG00000172661	ENSG00000172661			23414	protein-coding gene	gene with protein product		613631				20498093	Standard	NM_015262		Approved	Em:AC012044.3, KIAA0592	uc001jcu.3	Q9Y4E1	OTTHUMG00000018089	ENST00000336378.4:c.1056G>A	10.37:g.46248088G>A						FAM21C_ENST00000537517.1_Silent_p.S328S|FAM21C_ENST00000540872.1_Silent_p.S352S|FAM21C_ENST00000359860.4_Silent_p.S296S|FAM21C_ENST00000374362.2_Silent_p.S352S	p.S352S	NM_015262.2	NP_056077.2	A8K5W5	A8K5W5_HUMAN			12	1174	+			352					B4DZQ6|B9EK53|F5H0J6|F5H871|Q5SQU4|Q5SQU5|Q7L521|Q9UG79	Silent	SNP	ENST00000336378.4	37	c.1056G>A																																																																																					0.532	FAM21C-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding				76	117	0	0	0	1	0	76	117					A	46248088	G	A	46248088	2	1	221	1	0	0	0	0	0	0	0	1	5542	1074	38	1		1	FAM21C	10	46248088	Silent	SNP	G	TCGA-HC-7752-01A-11D-2114-08	19672776	46248088	89286659	27	10216											
ARHGAP22	58504	broad.mit.edu	37	chr10	49791063	49791063	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cccacgcagcacaaaccagcGctgctgccagttcttcatga	10	7	8	16	2	2	1	1	1	1	0	2	1	2	1	3	0	5	5	3	0	1	2			TCGA-HC-7752-01A-11D-2114-08	TCGA-HC-7752-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	109ba14b-307b-4a23-b09d-643fa235d0ff	bb02213c-0f97-4cea-a808-094166184ac9	g.chr10:49791063G>A	ENST00000249601.4	-	2	465	c.169C>T	c.(169-171)Cgc>Tgc	p.R57C	ARHGAP22_ENST00000435790.2_Missense_Mutation_p.R63C|ARHGAP22_ENST00000417912.2_Missense_Mutation_p.R57C|ARHGAP22_ENST00000491108.1_5'UTR	NM_001256024.1|NM_021226.3	NP_001242953.1|NP_067049.2	Q7Z5H3	RHG22_HUMAN	Rho GTPase activating protein 22	57	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|regulation of small GTPase mediated signal transduction (GO:0051056)|regulation of transcription, DNA-templated (GO:0006355)|small GTPase mediated signal transduction (GO:0007264)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	GTPase activator activity (GO:0005096)			endometrium(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						ACAAACCAGCGCTGCTGCCAG	0.612																																						ENST00000249601.4																			0				endometrium(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						c.(169-171)Cgc>Tgc		Rho GTPase activating protein 22							143	132	135					10																	49791063		2203	4300	6503	SO:0001583	missense	58504				angiogenesis|cell differentiation|regulation of small GTPase mediated signal transduction|regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent	cytosol|nucleus	GTPase activator activity	g.chr10:49791063G>A	AY324801	CCDS7227.1, CCDS58079.1, CCDS58080.1, CCDS58081.1	10q11.23	2013-01-10			ENSG00000128805	ENSG00000128805		"Rho GTPase activating proteins", "Pleckstrin homology (PH) domain containing"	30320	protein-coding gene	gene with protein product		610585				8619474	Standard	NM_021226		Approved	RhoGAP2	uc010qgm.3	Q7Z5H3	OTTHUMG00000018176	ENST00000249601.4:c.169C>T	10.37:g.49791063G>A	ENSP00000249601:p.Arg57Cys					ARHGAP22_ENST00000417912.2_Missense_Mutation_p.R57C|ARHGAP22_ENST00000435790.2_Missense_Mutation_p.R63C|ARHGAP22_ENST00000491108.1_5'UTR	p.R57C	NM_001256024.1|NM_021226.3	NP_001242953.1|NP_067049.2	Q7Z5H3	RHG22_HUMAN			2	465	-			57			PH.		A0AVP7|A5YM75|B4DED8|B9EGA0|C9JDM2|O00152|Q6ZSB0	Missense_Mutation	SNP	ENST00000249601.4	37	c.169C>T	CCDS7227.1	.	.	.	.	.	.	.	.	.	.	G	24.6	4.552177	0.86127	.	.	ENSG00000128805	ENST00000249601;ENST00000435790;ENST00000417912	T;T;T	0.39406	1.08;1.08;1.08	5.28	5.28	0.74379	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.64402	D	0.000001	T	0.74816	0.3766	H	0.96943	3.91	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	T	0.82737	-0.0309	10	0.87932	D	0	.	12.5575	0.56263	0.0:0.0:0.8336:0.1664	.	63;57;57;57	B4DED8;A6NDI7;Q7Z5H3-2;Q7Z5H3	.;.;.;RHG22_HUMAN	C	57;63;57	ENSP00000249601:R57C;ENSP00000416701:R63C;ENSP00000412461:R57C	ENSP00000249601:R57C	R	-	1	0	ARHGAP22	49461069	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.417000	0.80156	2.486000	0.83907	0.655000	0.94253	CGC		0.612	ARHGAP22-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000358767.1	NM_021226		93	100	0	0	0	1	0	93	100					A	49791063	G	A	49791063	3	1	221	1	0	0	0	0	1	0	0	0	872	1087	38	1	1963	1	ARHGAP22	10	49791063	Missense_Mutation	SNP	G	TCGA-HC-7752-01A-11D-2114-08	3542975	49791063	85743684	28	10217											
FGFR2	2263	broad.mit.edu	37	chr10	123239400	123239400	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aacactgccgtttatgtgtgGatactgaggaaggcatggtt	10	12	13	6	1	0	1	0	1	0	0	0	3	0	3	1	4	3	3	1	4	4	4			TCGA-HC-7752-01A-11D-2114-08	TCGA-HC-7752-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	109ba14b-307b-4a23-b09d-643fa235d0ff	bb02213c-0f97-4cea-a808-094166184ac9	g.chr10:123239400G>T	ENST00000358487.5	-	18	2709	c.2437C>A	c.(2437-2439)Cca>Aca	p.P813T	FGFR2_ENST00000346997.2_Missense_Mutation_p.P811T|FGFR2_ENST00000369061.4_Missense_Mutation_p.P701T|FGFR2_ENST00000369059.1_Missense_Mutation_p.P699T|FGFR2_ENST00000369060.4_Missense_Mutation_p.P697T|FGFR2_ENST00000457416.2_Missense_Mutation_p.P814T|FGFR2_ENST00000356226.4_Missense_Mutation_p.P696T|FGFR2_ENST00000478859.1_Missense_Mutation_p.P585T|FGFR2_ENST00000357555.5_Intron	NM_000141.4	NP_000132.3	P21802	FGFR2_HUMAN	fibroblast growth factor receptor 2	813					angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|axonogenesis (GO:0007409)|bone development (GO:0060348)|bone mineralization (GO:0030282)|bone morphogenesis (GO:0060349)|branch elongation involved in salivary gland morphogenesis (GO:0060667)|branching involved in labyrinthine layer morphogenesis (GO:0060670)|branching involved in prostate gland morphogenesis (GO:0060442)|branching involved in salivary gland morphogenesis (GO:0060445)|branching morphogenesis of a nerve (GO:0048755)|bud elongation involved in lung branching (GO:0060449)|cell fate commitment (GO:0045165)|cell-cell signaling (GO:0007267)|coronal suture morphogenesis (GO:0060365)|digestive tract development (GO:0048565)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic organ development (GO:0048568)|embryonic organ morphogenesis (GO:0048562)|embryonic pattern specification (GO:0009880)|endodermal digestive tract morphogenesis (GO:0061031)|epidermal growth factor receptor signaling pathway (GO:0007173)|epidermis morphogenesis (GO:0048730)|epithelial cell differentiation (GO:0030855)|epithelial cell proliferation involved in salivary gland morphogenesis (GO:0060664)|epithelial to mesenchymal transition (GO:0001837)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|fibroblast growth factor receptor signaling pathway involved in hemopoiesis (GO:0035603)|fibroblast growth factor receptor signaling pathway involved in mammary gland specification (GO:0060595)|fibroblast growth factor receptor signaling pathway involved in negative regulation of apoptotic process in bone marrow (GO:0035602)|fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development (GO:0035607)|fibroblast growth factor receptor signaling pathway involved in positive regulation of cell proliferation in bone marrow (GO:0035604)|gland morphogenesis (GO:0022612)|hair follicle morphogenesis (GO:0031069)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inner ear morphogenesis (GO:0042472)|insulin receptor signaling pathway (GO:0008286)|lacrimal gland development (GO:0032808)|lateral sprouting from an epithelium (GO:0060601)|lens fiber cell development (GO:0070307)|limb bud formation (GO:0060174)|lung alveolus development (GO:0048286)|lung development (GO:0030324)|lung lobe morphogenesis (GO:0060463)|lung-associated mesenchyme development (GO:0060484)|mammary gland bud formation (GO:0060615)|membranous septum morphogenesis (GO:0003149)|mesenchymal cell differentiation (GO:0048762)|mesenchymal cell differentiation involved in lung development (GO:0060915)|mesenchymal cell proliferation involved in lung development (GO:0060916)|mesodermal cell differentiation (GO:0048333)|midbrain development (GO:0030901)|morphogenesis of embryonic epithelium (GO:0016331)|multicellular organism growth (GO:0035264)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of mitosis (GO:0045839)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuromuscular junction development (GO:0007528)|neurotrophin TRK receptor signaling pathway (GO:0048011)|odontogenesis (GO:0042476)|orbitofrontal cortex development (GO:0021769)|organ growth (GO:0035265)|organ morphogenesis (GO:0009887)|otic vesicle formation (GO:0030916)|outflow tract septum morphogenesis (GO:0003148)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial cell proliferation involved in lung morphogenesis (GO:0060501)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of Wnt signaling pathway (GO:0030177)|post-embryonic development (GO:0009791)|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis (GO:0060527)|prostate epithelial cord elongation (GO:0060523)|prostate gland morphogenesis (GO:0060512)|protein autophosphorylation (GO:0046777)|pyramidal neuron development (GO:0021860)|regulation of branching involved in prostate gland morphogenesis (GO:0060687)|regulation of cell fate commitment (GO:0010453)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|regulation of morphogenesis of a branching structure (GO:0060688)|regulation of multicellular organism growth (GO:0040014)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoblast proliferation (GO:0033688)|regulation of smooth muscle cell differentiation (GO:0051150)|regulation of smoothened signaling pathway (GO:0008589)|reproductive structure development (GO:0048608)|skeletal system morphogenesis (GO:0048705)|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development (GO:0060529)|synaptic vesicle transport (GO:0048489)|ureteric bud development (GO:0001657)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|ventricular zone neuroblast division (GO:0021847)	cell cortex (GO:0005938)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|excitatory synapse (GO:0060076)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|fibroblast growth factor binding (GO:0017134)|fibroblast growth factor-activated receptor activity (GO:0005007)|heparin binding (GO:0008201)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)			breast(3)|central_nervous_system(3)|cervix(2)|endometrium(98)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|lung(21)|ovary(4)|skin(30)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(2)	181		Lung NSC(174;0.0841)|all_lung(145;0.106)|all_neural(114;0.107)	STAD - Stomach adenocarcinoma(1;7.52e-05)|all cancers(1;0.0722)	all cancers(201;9.73e-05)|GBM - Glioblastoma multiforme(135;0.0845)	Palifermin(DB00039)|Ponatinib(DB08901)|Regorafenib(DB08896)|Thalidomide(DB01041)	TTTATGTGTGGATACTGAGGA	0.478		5	Mis		"gastric. NSCLC, endometrial"		"Crouzon, Pfeiffer, and Apert syndromes"		Saethre-Chotzen syndrome;Apert syndrome																													ENST00000358487.5		5		Dom	yes		10	10q26	2263	Mis	fibroblast growth factor receptor 2	yes	"Crouzon, Pfeiffer, and Apert syndromes"	E			"gastric. NSCLC, endometrial"		0				breast(3)|central_nervous_system(3)|cervix(2)|endometrium(98)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|lung(21)|ovary(4)|skin(30)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(2)	181						c.(2437-2439)Cca>Aca		fibroblast growth factor receptor 2	Palifermin(DB00039)						230	180	197					10																	123239400		2203	4300	6503	SO:0001583	missense	2263	Saethre-Chotzen syndrome;Apert syndrome	Familial Cancer Database	Acrocephalosyndactyly type III;Acrocephalosyndactyly type I and II, ACS1. ACS2, incl Apert-Crouzon s.	angiogenesis|axonogenesis|bone mineralization|bone morphogenesis|branch elongation involved in salivary gland morphogenesis|branching involved in embryonic placenta morphogenesis|branching morphogenesis of a nerve|bud elongation involved in lung branching|cell fate commitment|cell growth|cell-cell signaling|cellular response to protein stimulus|embryonic digestive tract morphogenesis|embryonic pattern specification|epithelial cell proliferation involved in salivary gland morphogenesis|fibroblast growth factor receptor signaling pathway involved in hemopoiesis|fibroblast growth factor receptor signaling pathway involved in mammary gland specification|fibroblast growth factor receptor signaling pathway involved in negative regulation of apoptosis in bone marrow|fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development|fibroblast growth factor receptor signaling pathway involved in positive regulation of cell proliferation in bone marrow|hair follicle morphogenesis|insulin receptor signaling pathway|lacrimal gland development|lateral sprouting from an epithelium|limb bud formation|lung alveolus development|lung lobe morphogenesis|lung-associated mesenchyme development|mammary gland bud formation|membranous septum morphogenesis|mesenchymal cell differentiation involved in lung development|mesenchymal cell proliferation involved in lung development|midbrain development|multicellular organism growth|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|organ growth|otic vesicle formation|outflow tract septum morphogenesis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell cycle|positive regulation of cell division|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of ERK1 and ERK2 cascade|positive regulation of mesenchymal cell proliferation|positive regulation of transcription from RNA polymerase II promoter|post-embryonic development|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis|prostate epithelial cord elongation|pyramidal neuron development|regulation of branching involved in prostate gland morphogenesis|regulation of cell fate commitment|regulation of fibroblast growth factor receptor signaling pathway|regulation of multicellular organism growth|regulation of smooth muscle cell differentiation|regulation of smoothened signaling pathway|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development|ureteric bud development|ventricular cardiac muscle tissue morphogenesis|ventricular zone neuroblast division	cell cortex|cell surface|excitatory synapse|extracellular region|integral to membrane|nucleus|plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|heparin binding|protein binding	g.chr10:123239400G>T	AK026508	CCDS7620.2, CCDS31298.1, CCDS44485.1, CCDS44486.1, CCDS44487.1, CCDS44488.1, CCDS44489.1, CCDS53584.1, CCDS73210.1	10q25.3-q26	2013-01-11	2008-08-01		ENSG00000066468	ENSG00000066468		"CD molecules", "Immunoglobulin superfamily / I-set domain containing"	3689	protein-coding gene	gene with protein product	"Crouzon syndrome", "Pfeiffer syndrome"	176943	"bacteria-expressed kinase", "keratinocyte growth factor receptor", "craniofacial dysostosis 1", "Jackson-Weiss syndrome"	KGFR, BEK, CFD1, JWS			Standard	NM_022970		Approved	CEK3, TK14, TK25, ECT1, K-SAM, CD332	uc021pzy.1	P21802	OTTHUMG00000019175	ENST00000358487.5:c.2437C>A	10.37:g.123239400G>T	ENSP00000351276:p.Pro813Thr					FGFR2_ENST00000346997.2_Missense_Mutation_p.P811T|FGFR2_ENST00000369059.1_Missense_Mutation_p.P699T|FGFR2_ENST00000478859.1_Missense_Mutation_p.P585T|FGFR2_ENST00000369060.4_Missense_Mutation_p.P697T|FGFR2_ENST00000357555.5_Intron|FGFR2_ENST00000457416.2_Missense_Mutation_p.P814T|FGFR2_ENST00000369061.4_Missense_Mutation_p.P701T|FGFR2_ENST00000356226.4_Missense_Mutation_p.P696T	p.P813T	NM_000141.4	NP_000132.3	P21802	FGFR2_HUMAN	STAD - Stomach adenocarcinoma(1;7.52e-05)|all cancers(1;0.0722)	all cancers(201;9.73e-05)|GBM - Glioblastoma multiforme(135;0.0845)	18	2709	-		Lung NSC(174;0.0841)|all_lung(145;0.106)|all_neural(114;0.107)	813					B4DFC2|E7EVR6|E9PCR0|P18443|Q01742|Q12922|Q14300|Q14301|Q14302|Q14303|Q14304|Q14305|Q14672|Q14718|Q14719|Q1KHY5|Q86YI4|Q8IXC7|Q96KL9|Q96KM0|Q96KM1|Q96KM2|Q9NZU2|Q9NZU3|Q9UD01|Q9UD02|Q9UIH3|Q9UIH4|Q9UIH5|Q9UIH6|Q9UIH7|Q9UIH8|Q9UM87|Q9UMC6|Q9UNS7|Q9UQH7|Q9UQH8|Q9UQH9|Q9UQI0	Missense_Mutation	SNP	ENST00000358487.5	37	c.2437C>A	CCDS31298.1	.	.	.	.	.	.	.	.	.	.	G	14.70	2.612299	0.46631	.	.	ENSG00000066468	ENST00000369062;ENST00000369061;ENST00000358487;ENST00000356226;ENST00000369060;ENST00000369059;ENST00000346997;ENST00000457416	T;T;T;T;T;T;T	0.78924	-1.22;-1.17;-1.15;-1.22;-1.15;-1.18;-1.17	6.17	6.17	0.99709	.	0.284303	0.33875	N	0.004468	T	0.79805	0.4509	L	0.57536	1.79	0.80722	D	1	B;B;B;B;B	0.24317	0.034;0.101;0.057;0.001;0.081	B;B;B;B;B	0.31495	0.038;0.082;0.131;0.004;0.062	T	0.74864	-0.3519	10	0.66056	D	0.02	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	830;812;696;813;716	D3DRD5;P21802-18;P21802-20;P21802;D3DRD3	.;.;.;FGFR2_HUMAN;.	T	814;701;813;696;697;699;811;814	ENSP00000358057:P701T;ENSP00000351276:P813T;ENSP00000348559:P696T;ENSP00000358056:P697T;ENSP00000358055:P699T;ENSP00000263451:P811T;ENSP00000410294:P814T	ENSP00000263451:P811T	P	-	1	0	FGFR2	123229390	1.000000	0.71417	0.999000	0.59377	0.982000	0.71751	6.664000	0.74437	2.941000	0.99782	0.655000	0.94253	CCA		0.478	FGFR2-001	KNOWN	non_canonical_conserved|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000050715.1	NM_022976, NM_000141		9	79	1	0	2.17888e-05	1	2.46308e-05	9	79					T	123239400	G	T	123239400	3	4	221	1	0	0	0	0	1	0	0	0	5866	1174	41	5	126	5	FGFR2	10	123239400	Missense_Mutation	SNP	G	TCGA-HC-7752-01A-11D-2114-08	73448337	123239400	12295347	29	10218											
EIF4G2	1982	broad.mit.edu	37	chr11	10821136	10821136	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacaaatcctttatctacatGaagtttgggagagatgttat	13	14	8	6	0	1	2	0	1	1	1	2	4	2	3	1	1	1	2	1	1	5	5			TCGA-HC-7752-01A-11D-2114-08	TCGA-HC-7752-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	109ba14b-307b-4a23-b09d-643fa235d0ff	bb02213c-0f97-4cea-a808-094166184ac9	g.chr11:10821136G>T	ENST00000526148.1	-	19	2797	c.2287C>A	c.(2287-2289)Cat>Aat	p.H763N	EIF4G2_ENST00000396525.2_Missense_Mutation_p.H725N|EIF4G2_ENST00000339995.5_Missense_Mutation_p.H763N|EIF4G2_ENST00000525681.1_Missense_Mutation_p.H763N|RP11-685M7.5_ENST00000532365.1_RNA|SNORD97_ENST00000459187.1_RNA	NM_001172705.1	NP_001166176			eukaryotic translation initiation factor 4 gamma, 2											NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	43				all cancers(16;2.8e-07)|Epithelial(150;4.18e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)		TTATCTACATGAAGTTTGGGA	0.363																																						ENST00000526148.1																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	43						c.(2287-2289)Cat>Aat		eukaryotic translation initiation factor 4 gamma, 2							137	131	133					11																	10821136		2201	4294	6495	SO:0001583	missense	1982				cell cycle arrest|cell death|regulation of translational initiation|RNA metabolic process	eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity	g.chr11:10821136G>T	U73824	CCDS31428.1, CCDS41618.1	11p15	2005-09-29			ENSG00000110321	ENSG00000110321			3297	protein-coding gene	gene with protein product		602325				9030685, 9032289	Standard	NM_001042559		Approved	DAP5, NAT1, p97	uc001mjc.3	P78344	OTTHUMG00000165823	ENST00000526148.1:c.2287C>A	11.37:g.10821136G>T	ENSP00000433664:p.His763Asn					RP11-685M7.5_ENST00000532365.1_RNA|EIF4G2_ENST00000396525.2_Missense_Mutation_p.H725N|EIF4G2_ENST00000525681.1_Missense_Mutation_p.H763N|EIF4G2_ENST00000339995.5_Missense_Mutation_p.H763N	p.H763N	NM_001172705.1	NP_001166176.1	P78344	IF4G2_HUMAN		all cancers(16;2.8e-07)|Epithelial(150;4.18e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)	19	2797	-			763			W2.			Missense_Mutation	SNP	ENST00000526148.1	37	c.2287C>A	CCDS31428.1	.	.	.	.	.	.	.	.	.	.	G	25.3	4.622014	0.87460	.	.	ENSG00000110321	ENST00000526148;ENST00000525681;ENST00000339995;ENST00000396525;ENST00000429377;ENST00000528839;ENST00000379653	T;T;T;T	0.18338	2.22;2.22;2.22;2.23	5.52	5.52	0.82312	eIF4-gamma/eIF5/eIF2-epsilon (1);Armadillo-type fold (1);MIF4-like, type 1/2/3 (1);	0.000000	0.85682	D	0.000000	T	0.38772	0.1053	M	0.73598	2.24	0.51482	D	0.999920	D;D	0.67145	0.989;0.996	P;P	0.57101	0.813;0.813	T	0.06481	-1.0824	9	0.37606	T	0.19	-9.3538	19.4476	0.94854	0.0:0.0:1.0:0.0	.	763;836	P78344;B4DZF2	IF4G2_HUMAN;.	N	763;763;763;725;836;111;145	ENSP00000433664:H763N;ENSP00000433371:H763N;ENSP00000340281:H763N;ENSP00000379778:H725N	ENSP00000340281:H763N	H	-	1	0	EIF4G2	10777712	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.599000	0.87857	0.563000	0.77884	CAT		0.363	EIF4G2-006	KNOWN	alternative_5_UTR|non_ATG_start|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000386603.1	NM_001418		5	68	1	0	0.00307968	1	0.00333632	5	68					T	10821136	G	T	10821136	3	4	221	1	0	0	0	0	1	0	0	0	5037	1290	45	5	452	5	EIF4G2	11	10821136	Missense_Mutation	SNP	G	TCGA-HC-7752-01A-11D-2114-08		10821136	124185380	30	10219											
MTA2	9219	broad.mit.edu	37	chr11	62361465	62361465	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaggggcaagttgggtcggCgagcagctcgccgcatttcc	6	8	15	12	4	1	0	1	0	0	0	4	1	2	0	2	4	2	5	2	4	1	2			TCGA-HC-7752-01A-11D-2114-08	TCGA-HC-7752-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	109ba14b-307b-4a23-b09d-643fa235d0ff	bb02213c-0f97-4cea-a808-094166184ac9	g.chr11:62361465C>G	ENST00000278823.2	-	18	2278	c.1889G>C	c.(1888-1890)cGc>cCc	p.R630P	MIR3654_ENST00000496634.2_5'Flank|MTA2_ENST00000524902.1_Missense_Mutation_p.R457P|TUT1_ENST00000476907.1_5'Flank|MTA2_ENST00000527204.1_Missense_Mutation_p.R457P|TUT1_ENST00000308436.7_5'Flank	NM_004739.3	NP_004730.2	O94776	MTA2_HUMAN	metastasis associated 1 family, member 2	630					ATP-dependent chromatin remodeling (GO:0043044)|chromatin assembly or disassembly (GO:0006333)|DNA methylation (GO:0006306)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	histone deacetylase complex (GO:0000118)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|NuRD complex (GO:0016581)|protein complex (GO:0043234)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|histone deacetylase activity (GO:0004407)|RNA polymerase II repressing transcription factor binding (GO:0001103)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding transcription factor activity (GO:0000989)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	26						GTTGGGTCGGCGAGCAGCTCG	0.582											OREG0021027	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000278823.2																			0				endometrium(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	26						c.(1888-1890)cGc>cCc		metastasis associated 1 family, member 2							116	104	108					11																	62361465		2202	4299	6501	SO:0001583	missense	9219				chromatin assembly or disassembly	NuRD complex	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr11:62361465C>G	AB016591	CCDS8022.1	11q12-q13.1	2013-01-25	2004-12-15	2003-12-17	ENSG00000149480	ENSG00000149480		"GATA zinc finger domain containing"	7411	protein-coding gene	gene with protein product		603947	"metastasis associated gene family, member 2"	MTA1L1		9929979	Standard	NM_004739		Approved	MTA1-L1	uc001ntq.2	O94776	OTTHUMG00000167684	ENST00000278823.2:c.1889G>C	11.37:g.62361465C>G	ENSP00000278823:p.Arg630Pro		OREG0021027	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1060	MTA2_ENST00000527204.1_Missense_Mutation_p.R457P|MTA2_ENST00000524902.1_Missense_Mutation_p.R457P	p.R630P	NM_004739.3	NP_004730.2	O94776	MTA2_HUMAN			18	2278	-			630					Q68DB1|Q9UQB5	Missense_Mutation	SNP	ENST00000278823.2	37	c.1889G>C	CCDS8022.1	.	.	.	.	.	.	.	.	.	.	C	25.3	4.619825	0.87460	.	.	ENSG00000149480	ENST00000278823;ENST00000524902;ENST00000527204	T;T;T	0.69561	0.22;-0.41;-0.41	5.87	5.87	0.94306	.	0.121387	0.53938	D	0.000044	T	0.80177	0.4575	M	0.62723	1.935	0.80722	D	1	D	0.67145	0.996	D	0.70487	0.969	T	0.80781	-0.1229	10	0.72032	D	0.01	-15.7564	17.7165	0.88338	0.0:1.0:0.0:0.0	.	630	O94776	MTA2_HUMAN	P	630;457;457	ENSP00000278823:R630P;ENSP00000431346:R457P;ENSP00000431797:R457P	ENSP00000278823:R630P	R	-	2	0	MTA2	62118041	1.000000	0.71417	0.955000	0.39395	0.973000	0.67179	6.597000	0.74118	2.778000	0.95560	0.650000	0.86243	CGC		0.582	MTA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395578.1	NM_004739		36	57	0	0	0	1	0	36	57					G	62361465	C	G	62361465	3	3	221	1	0	0	0	0	1	0	0	0	9909	768	27	5	121	5	MTA2	11	62361465	Missense_Mutation	SNP	C	TCGA-HC-7752-01A-11D-2114-08	51540329	62361465	72645051	31	10220											
EMG1	10436	broad.mit.edu	37	chr12	7080212	7080213	+	Splice_Site	INS	-	-	C																															acaagatcggaggccgtagtINSttattgtggtgctggaaggg																								rs11428482|rs374779752|rs17857448		TCGA-HC-7752-01A-11D-2114-08	TCGA-HC-7752-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	109ba14b-307b-4a23-b09d-643fa235d0ff	bb02213c-0f97-4cea-a808-094166184ac9	g.chr12:7080212_7080213insC	ENST00000261406.6	+	2	267_268	c.124_125insC	c.(124-126)ttt>tCtt	p.F42fs	EMG1_ENST00000546220.1_3'UTR|PHB2_ENST00000440277.1_5'Flank|PHB2_ENST00000535923.1_5'Flank|PHB2_ENST00000399433.2_5'Flank|PHB2_ENST00000542912.1_5'Flank|PHB2_ENST00000546111.1_5'Flank|PHB2_ENST00000544134.1_5'Flank	NM_006331.7	NP_006322.4			EMG1 N1-specific pseudouridine methyltransferase																		GAGGCCGTAGTTTATTGTGGTG	0.569																																						ENST00000546220.1																			0													EMG1 N1-specific pseudouridine methyltransferase				3746,4		1873,0,2						5.4	1		dbSNP_120	28	7902,2		3951,0,1	no	frameshift	EMG1	NM_006331.7		5824,0,3	A1A1,A1R,RR		0.0253,0.1067,0.0515				11648,6				SO:0001630	splice_region_variant	10436				ribosomal small subunit biogenesis	cytoplasm|nucleolus	rRNA (pseudouridine) methyltransferase activity|rRNA binding	g.chr12:7080212_7080213insC	U72514	CCDS73430.1	12p13	2013-05-22	2013-05-22			ENSG00000126749			16912	protein-coding gene	gene with protein product		611531	"EMG1 nucleolar protein homolog (S. cerevisiae)"			9074930, 11935223, 19463982	Standard	NM_006331		Approved	C2F, NEP1, Grcc2f	uc001qsh.4	Q92979		ENST00000261406.6:c.124-1->C	12.37:g.7080212_7080213insC						U47924.19_ENST00000564245.1_RNA|U47924.28_ENST00000261406.6_lincRNA				Q92979	NEP1_HUMAN			0	157_158	+									RNA	INS	ENST00000261406.6	37																																																																																						0.569	EMG1-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_006331	Frame_Shift_Ins	7	9						7	9	---	---	---	---	C	7080213	-	C	7080212	8	5	221	1	0	1	1	0	0	0	1	0	5090	1722	60	0	128	0	EMG1	12	7080212	Splice_Site	INS	-	TCGA-HC-7752-01A-11D-2114-08		7080212	126771683	32	10221											
USP15	9958	broad.mit.edu	37	chr12	62785633	62785634	+	Frame_Shift_Ins	INS	-	-	A																															tggattgggatcctgatttgINSaaaaaaagatattttgatga																										TCGA-HC-7752-01A-11D-2114-08	TCGA-HC-7752-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	109ba14b-307b-4a23-b09d-643fa235d0ff	bb02213c-0f97-4cea-a808-094166184ac9	g.chr12:62785633_62785634insA	ENST00000280377.5	+	17	2329_2330	c.2271_2272insA	c.(2272-2274)aaafs	p.K758fs	USP15_ENST00000393654.3_Frame_Shift_Ins_p.K733fs|USP15_ENST00000353364.3_Frame_Shift_Ins_p.K729fs	NM_001252078.1	NP_001239007.1	Q9Y4E8	UBP15_HUMAN	ubiquitin specific peptidase 15	758	USP.				BMP signaling pathway (GO:0030509)|monoubiquitinated protein deubiquitination (GO:0035520)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|protein deubiquitination (GO:0016579)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|identical protein binding (GO:0042802)|SMAD binding (GO:0046332)|transforming growth factor beta receptor binding (GO:0005160)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(15)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	37			GBM - Glioblastoma multiforme(1;0.000276)	GBM - Glioblastoma multiforme(28;0.0622)		ATCCTGATTTGAAAAAAAGATA	0.277																																					Melanoma(181;615 2041 39364 49691 50001)	ENST00000280377.5																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(15)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	37						c.(2269-2274)ttaaaafs		ubiquitin specific peptidase 15																																				SO:0001589	frameshift_variant	9958				protein deubiquitination|ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr12:62785633_62785634insA	AB011101	CCDS8963.1, CCDS58250.1, CCDS58251.1	12q14	2006-07-18	2005-08-08					"Ubiquitin-specific peptidases"	12613	protein-coding gene	gene with protein product		604731	"ubiquitin specific protease 15"			12838346	Standard	NM_001252078		Approved	KIAA0529, UNPH4	uc001src.2	Q9Y4E8	OTTHUMG00000170186	ENST00000280377.5:c.2278dupA	12.37:g.62785640_62785640dupA	ENSP00000280377:p.Lys758fs					USP15_ENST00000393654.3_Frame_Shift_Ins_p.LK732fs|USP15_ENST00000353364.3_Frame_Shift_Ins_p.LK728fs	p.LK757fs	NM_001252078.1	NP_001239007.1	Q9Y4E8	UBP15_HUMAN	GBM - Glioblastoma multiforme(1;0.000276)	GBM - Glioblastoma multiforme(28;0.0622)	17	2329_2330	+			757					Q08AL5|Q9H8G9|Q9HCA6|Q9UNP0|Q9Y5B5	Frame_Shift_Ins	INS	ENST00000280377.5	37	c.2271_2272insA	CCDS58251.1																																																																																				0.277	USP15-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000407831.2	NM_006313		23	28						23	28	---	---	---	---	A	62785634	-	A	62785633	7	5	221	1	0	1	1	0	0	0	0	0	17043	1281	45	0	2246	0	USP15	12	62785633	Frame_Shift_Ins	INS	-	TCGA-HC-7752-01A-11D-2114-08	55705421	62785633	71066262	33	10222											
SRGAP1	57522	broad.mit.edu	37	chr12	64491145	64491145	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gaaagatttaacgatctgatTtcttgtatcagtaagtggac	13	14	9	5	1	3	2	1	1	2	1	3	5	3	3	0	1	1	2	0	1	4	6			TCGA-HC-7752-01A-11D-2114-08	TCGA-HC-7752-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	109ba14b-307b-4a23-b09d-643fa235d0ff	bb02213c-0f97-4cea-a808-094166184ac9	g.chr12:64491145T>G	ENST00000355086.3	+	15	2327	c.1803T>G	c.(1801-1803)atT>atG	p.I601M	SRGAP1_ENST00000357825.3_Missense_Mutation_p.I578M|RP11-196H14.2_ENST00000535594.1_RNA|SRGAP1_ENST00000543397.1_Missense_Mutation_p.I538M	NM_020762.2	NP_065813.1	Q7Z6B7	SRGP1_HUMAN	SLIT-ROBO Rho GTPase activating protein 1	601	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				axon guidance (GO:0007411)|cell migration (GO:0016477)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	Rho GTPase activator activity (GO:0005100)			breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	65			GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225)	GBM - Glioblastoma multiforme(28;0.0608)		ACGATCTGATTTCTTGTATCA	0.428																																						ENST00000355086.3																			0				breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	65						c.(1801-1803)atT>atG		SLIT-ROBO Rho GTPase activating protein 1							85	83	84					12																	64491145		2203	4300	6503	SO:0001583	missense	57522				axon guidance	cytosol		g.chr12:64491145T>G	AB037725	CCDS8967.1	12q13.13	2011-07-04			ENSG00000196935	ENSG00000196935		"Rho GTPase activating proteins"	17382	protein-coding gene	gene with protein product		606523				11672528	Standard	NM_020762		Approved	KIAA1304, ARHGAP13	uc010ssp.1	Q7Z6B7	OTTHUMG00000168750	ENST00000355086.3:c.1803T>G	12.37:g.64491145T>G	ENSP00000347198:p.Ile601Met					SRGAP1_ENST00000543397.1_Missense_Mutation_p.I538M|RP11-196H14.2_ENST00000535594.1_RNA|SRGAP1_ENST00000357825.3_Missense_Mutation_p.I578M	p.I601M	NM_020762.2	NP_065813.1	Q7Z6B7	SRGP1_HUMAN	GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225)	GBM - Glioblastoma multiforme(28;0.0608)	15	2327	+			601			Rho-GAP.		Q9H8A3|Q9P2P2	Missense_Mutation	SNP	ENST00000355086.3	37	c.1803T>G	CCDS8967.1	.	.	.	.	.	.	.	.	.	.	T	11.56	1.676014	0.29783	.	.	ENSG00000196935	ENST00000355086;ENST00000357825;ENST00000543397	T;T;T	0.20463	2.07;2.07;2.07	5.48	5.48	0.80851	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	0.000000	0.35436	U	0.003204	T	0.19485	0.0468	L	0.37630	1.12	0.51767	D	0.999934	B;B	0.26445	0.149;0.063	B;B	0.34779	0.189;0.06	T	0.08229	-1.0732	9	.	.	.	.	11.0338	0.47789	0.1387:0.0:0.0:0.8613	.	601;538	Q7Z6B7;G5EA48	SRGP1_HUMAN;.	M	601;578;538	ENSP00000347198:I601M;ENSP00000350480:I578M;ENSP00000437948:I538M	.	I	+	3	3	SRGAP1	62777412	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	0.975000	0.29449	2.206000	0.71126	0.533000	0.62120	ATT		0.428	SRGAP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000400896.1			15	29	0	0	0	1	0	15	29					G	64491145	T	G	64491145	3	3	221	1	0	0	0	0	1	0	0	0	15144	1829	64	5	1861	5	SRGAP1	12	64491145	Missense_Mutation	SNP	T	TCGA-HC-7752-01A-11D-2114-08	1705512	64491145	69360750	34	10223											
TPTE2	93492	broad.mit.edu	37	chr13	20067611	20067611	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tctttcgcaggtgcctcctcGgttgttcctttaaattcgtt	4	18	8	11	3	1	0	0	0	1	0	6	0	3	0	3	2	1	4	3	2	2	7	rs144275026		TCGA-HC-7752-01A-11D-2114-08	TCGA-HC-7752-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	109ba14b-307b-4a23-b09d-643fa235d0ff	bb02213c-0f97-4cea-a808-094166184ac9	g.chr13:20067611G>A	ENST00000400230.2	-	2	86	c.42C>T	c.(40-42)acC>acT	p.T14T	TPTE2_ENST00000382975.4_Silent_p.T14T|TPTE2_ENST00000457266.2_Silent_p.T14T|TPTE2_ENST00000255310.6_Silent_p.T14T|TPTE2_ENST00000382977.4_Silent_p.T14T|TPTE2_ENST00000390680.2_Silent_p.T14T|TPTE2_ENST00000382978.1_Silent_p.T14T|TPTE2_ENST00000400103.2_Silent_p.T14T			Q6XPS3	TPTE2_HUMAN	transmembrane phosphoinositide 3-phosphatase and tensin homolog 2	14					phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	ion channel activity (GO:0005216)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)		GTGCCTCCTCGGTTGTTCCTT	0.373													g|||	1	0.000199681	8e-04	0	5008	,	,		18548	0		0	False		,,,				2504	0					ENST00000400230.2																			0				NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						c.(40-42)acC>acT		transmembrane phosphoinositide 3-phosphatase and tensin homolog 2		G	,,	2,4404	4.2+/-10.8	0,2,2201	120	112	115		42,42,42	-1.6	0	13	dbSNP_134	115	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous	TPTE2	NM_001141968.1,NM_130785.3,NM_199254.2	,,	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	,,	14/412,14/446,14/523	20067611	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	93492					endoplasmic reticulum membrane|integral to membrane	ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr13:20067611G>A	AJ421032	CCDS9285.1, CCDS45013.1, CCDS45014.1	13q12.11	2012-12-10			ENSG00000132958	ENSG00000132958		"Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"	17299	protein-coding gene	gene with protein product		606791				11716755, 12717346, 15057823	Standard	NM_130785		Approved	TPIP	uc001umd.3	Q6XPS3	OTTHUMG00000016493	ENST00000400230.2:c.42C>T	13.37:g.20067611G>A						TPTE2_ENST00000400103.2_Silent_p.T14T|TPTE2_ENST00000382978.1_Silent_p.T14T|TPTE2_ENST00000382977.4_Silent_p.T14T|TPTE2_ENST00000382975.4_Silent_p.T14T|TPTE2_ENST00000255310.6_Silent_p.T14T|TPTE2_ENST00000457266.2_Silent_p.T14T|TPTE2_ENST00000390680.2_Silent_p.T14T	p.T14T			Q6XPS3	TPTE2_HUMAN		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)	2	86	-		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)	14					A1A4X0|A1A4X1|A8MX64|B1AQ16|B4DWZ2|Q5VUH2|Q8WWL4|Q8WWL5	Silent	SNP	ENST00000400230.2	37	c.42C>T	CCDS45014.1																																																																																				0.373	TPTE2-205	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_199254		9	57	0	0	0	1	0	9	57					A	20067611	G	A	20067611	2	1	221	1	0	0	0	0	0	0	0	1	16428	1103	39	2		2	TPTE2	13	20067611	Silent	SNP	G	TCGA-HC-7752-01A-11D-2114-08		20067611	95102267	35	10224											
YLPM1	56252	broad.mit.edu	37	chr14	75266297	75266297	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cctcagaaatgatggggtccGatgcaagcttagactctgac	11	9	11	10	1	2	4	1	2	1	2	3	5	3	4	2	2	2	2	2	2	3	1			TCGA-HC-7752-01A-11D-2114-08	TCGA-HC-7752-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	109ba14b-307b-4a23-b09d-643fa235d0ff	bb02213c-0f97-4cea-a808-094166184ac9	g.chr14:75266297G>A	ENST00000325680.7	+	5	4421	c.4297G>A	c.(4297-4299)Gat>Aat	p.D1433N	YLPM1_ENST00000238571.3_Missense_Mutation_p.D1238N|YLPM1_ENST00000552421.1_Intron	NM_019589.2	NP_062535.2	P49750	YLPM1_HUMAN	YLP motif containing 1	1238					regulation of telomere maintenance (GO:0032204)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)			breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	62			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)		GATGGGGTCCGATGCAAGCTT	0.483																																						ENST00000325680.7																			0				breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	62						c.(4297-4299)Gat>Aat		YLP motif containing 1							132	123	126					14																	75266297		1946	4146	6092	SO:0001583	missense	56252				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck		g.chr14:75266297G>A	AK090435	CCDS45135.1	14q24.3	2014-06-13	2004-07-15	2004-07-15	ENSG00000119596	ENSG00000119596			17798	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 169"		"chromosome 14 open reading frame 170"	C14orf170		7596406	Standard	NM_019589		Approved	ZAP, PPP1R169	uc001xqj.4	P49750	OTTHUMG00000172503	ENST00000325680.7:c.4297G>A	14.37:g.75266297G>A	ENSP00000324463:p.Asp1433Asn					YLPM1_ENST00000552421.1_Intron|YLPM1_ENST00000238571.3_Missense_Mutation_p.D1238N	p.D1433N	NM_019589.2	NP_062535.2	P49750	YLPM1_HUMAN	KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)	5	4421	+			1238					P49752|Q96I64|Q9P1V7	Missense_Mutation	SNP	ENST00000325680.7	37	c.4297G>A	CCDS45135.1	.	.	.	.	.	.	.	.	.	.	G	25.8	4.675640	0.88445	.	.	ENSG00000119596	ENST00000325680;ENST00000238571;ENST00000423680	.	.	.	5.96	5.02	0.67125	.	0.185586	0.37437	N	0.002100	T	0.41650	0.1168	L	0.36672	1.1	0.39719	D	0.971449	P	0.48230	0.907	B	0.37304	0.246	T	0.48525	-0.9028	9	0.49607	T	0.09	-12.4889	15.1719	0.72881	0.0:0.2569:0.743:0.0	.	1433	P49750-4	.	N	1433;1238;1146	.	ENSP00000238571:D1238N	D	+	1	0	YLPM1	74336050	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	3.031000	0.49728	2.826000	0.97356	0.637000	0.83480	GAT		0.483	YLPM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404451.1	NM_019589		4	139	0	0	0	1	0	4	139					A	75266297	G	A	75266297	3	1	221	1	0	0	0	0	1	0	0	0	17483	1058	37	2	4315	2	YLPM1	14	75266297	Missense_Mutation	SNP	G	TCGA-HC-7752-01A-11D-2114-08		75266297	32083243	36	10225											
ZSCAN29	146050	broad.mit.edu	37	chr15	43654116	43654116	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcccgttttgaattatcttCattctcaaatccagcttcaa	11	16	3	11	1	4	1	3	1	2	0	7	1	6	1	2	0	1	2	2	0	4	6			TCGA-HC-7752-01A-11D-2114-08	TCGA-HC-7752-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	109ba14b-307b-4a23-b09d-643fa235d0ff	bb02213c-0f97-4cea-a808-094166184ac9	g.chr15:43654116C>A	ENST00000396976.2	-	5	1848	c.1714G>T	c.(1714-1716)Gaa>Taa	p.E572*	ZSCAN29_ENST00000562072.1_Missense_Mutation_p.M500I|ZSCAN29_ENST00000568898.1_Nonsense_Mutation_p.E182*|ZSCAN29_ENST00000396972.1_Nonsense_Mutation_p.E183*	NM_152455.3	NP_689668.3	Q8IWY8	ZSC29_HUMAN	zinc finger and SCAN domain containing 29	572					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			cervix(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(7)|skin(2)	24		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;8.97e-07)		GAATTATCTTCATTCTCAAAT	0.343																																						ENST00000396976.2																			0				cervix(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(7)|skin(2)	24						c.(1714-1716)Gaa>Taa		zinc finger and SCAN domain containing 29							55	59	58					15																	43654116		2201	4299	6500	SO:0001587	stop_gained	146050				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr15:43654116C>A	AF525399	CCDS10095.2	15q15.3	2013-01-08	2007-03-08	2007-03-08	ENSG00000140265	ENSG00000140265		"-", "Zinc fingers, C2H2-type"	26673	protein-coding gene	gene with protein product			"zinc finger protein 690"	ZNF690		12434312	Standard	NM_152455		Approved	FLJ35867, Zfp690	uc001zrk.1	Q8IWY8	OTTHUMG00000130767	ENST00000396976.2:c.1714G>T	15.37:g.43654116C>A	ENSP00000380174:p.Glu572*					ZSCAN29_ENST00000396972.1_Nonsense_Mutation_p.E183*|ZSCAN29_ENST00000568898.1_Nonsense_Mutation_p.E182*|ZSCAN29_ENST00000562072.1_Missense_Mutation_p.M500I	p.E572*	NM_152455.3	NP_689668.3	Q8IWY8	ZSC29_HUMAN		GBM - Glioblastoma multiforme(94;8.97e-07)	5	1848	-		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)	572					B3KVB9|Q32M75|Q32M76|Q8NA40	Nonsense_Mutation	SNP	ENST00000396976.2	37	c.1714G>T	CCDS10095.2	.	.	.	.	.	.	.	.	.	.	C	18.22	3.575646	0.65878	.	.	ENSG00000140265	ENST00000396976;ENST00000396972	.	.	.	4.87	3.88	0.44766	.	0.196476	0.36167	N	0.002757	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.21014	T	0.42	-14.9061	5.7496	0.18140	0.0:0.7927:0.0:0.2073	.	.	.	.	X	572;183	.	ENSP00000380170:E183X	E	-	1	0	ZSCAN29	41441408	0.887000	0.30362	1.000000	0.80357	0.876000	0.50452	0.878000	0.28126	2.521000	0.84997	0.655000	0.94253	GAA		0.343	ZSCAN29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253278.1	NM_152455		3	48	1	0	1	1	1	3	48					A	43654116	C	A	43654116	4	1	221	1	0	0	0	0	0	1	0	0	18233	835	29	5	848	5	ZSCAN29	15	43654116	Nonsense_Mutation	SNP	C	TCGA-HC-7752-01A-11D-2114-08		43654116	58877276	37	10226											
SALL1	6299	broad.mit.edu	37	chr16	51172768	51172768	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctgggcagagcagggagcAgaactggggatgtggcagag	10	5	19	7	0	0	3	0	0	0	3	1	5	1	5	1	5	3	4	1	5	1	0			TCGA-HC-7752-01A-11D-2114-08	TCGA-HC-7752-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	109ba14b-307b-4a23-b09d-643fa235d0ff	bb02213c-0f97-4cea-a808-094166184ac9	g.chr16:51172768A>G	ENST00000251020.4	-	2	3398	c.3365T>C	c.(3364-3366)cTg>cCg	p.L1122P	SALL1_ENST00000566102.1_Intron|SALL1_ENST00000440970.1_Missense_Mutation_p.L1025P|SALL1_ENST00000541611.1_Intron	NM_002968.2	NP_002959.2	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	1122					adrenal gland development (GO:0030325)|branching involved in ureteric bud morphogenesis (GO:0001658)|embryonic digestive tract development (GO:0048566)|embryonic digit morphogenesis (GO:0042733)|forelimb morphogenesis (GO:0035136)|gonad development (GO:0008406)|heart development (GO:0007507)|hindlimb morphogenesis (GO:0035137)|histone deacetylation (GO:0016575)|inductive cell-cell signaling (GO:0031129)|kidney development (GO:0001822)|kidney epithelium development (GO:0072073)|limb development (GO:0060173)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|olfactory bulb interneuron differentiation (GO:0021889)|olfactory bulb mitral cell layer development (GO:0061034)|olfactory nerve development (GO:0021553)|outer ear morphogenesis (GO:0042473)|pituitary gland development (GO:0021983)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of neural precursor cell proliferation (GO:2000177)|transcription, DNA-templated (GO:0006351)|ureteric bud development (GO:0001657)|ureteric bud invasion (GO:0072092)|ventricular septum development (GO:0003281)	chromocenter (GO:0010369)|cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			AGCAGGGAGCAGAACTGGGGA	0.567																																					GBM(103;1352 1446 1855 4775 8890)	ENST00000440970.1																			0				NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126						c.(3073-3075)cTg>cCg		spalt-like transcription factor 1							88	75	79					16																	51172768		2198	4300	6498	SO:0001583	missense	6299				adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr16:51172768A>G	X98833	CCDS10747.1, CCDS45483.1	16q12.1	2014-09-17	2013-10-17		ENSG00000103449	ENSG00000103449		"Zinc fingers, C2H2-type"	10524	protein-coding gene	gene with protein product		602218	"sal (Drosophila)-like 1", "sal-like 1 (Drosophila)"	TBS		9425907	Standard	NM_002968		Approved	Hsal1, ZNF794	uc021tie.1	Q9NSC2	OTTHUMG00000133176	ENST00000251020.4:c.3365T>C	16.37:g.51172768A>G	ENSP00000251020:p.Leu1122Pro					SALL1_ENST00000566102.1_Intron|SALL1_ENST00000541611.1_Intron|SALL1_ENST00000251020.4_Missense_Mutation_p.L1122P	p.L1025P	NM_001127892.1	NP_001121364.1	Q9NSC2	SALL1_HUMAN	COAD - Colon adenocarcinoma(2;0.24)		2	3505	-		all_cancers(37;0.0322)	1122					Q99881|Q9NSC3|Q9P1R0	Missense_Mutation	SNP	ENST00000251020.4	37	c.3074T>C	CCDS10747.1	.	.	.	.	.	.	.	.	.	.	A	19.46	3.831723	0.71258	.	.	ENSG00000103449	ENST00000251020;ENST00000440970;ENST00000457559	T;T	0.07567	3.18;3.19	5.42	5.42	0.78866	.	0.000000	0.85682	D	0.000000	T	0.20455	0.0492	L	0.39245	1.2	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.01242	-1.1408	10	0.33940	T	0.23	.	15.4691	0.75426	1.0:0.0:0.0:0.0	.	1122	Q9NSC2	SALL1_HUMAN	P	1122;1025;1086	ENSP00000251020:L1122P;ENSP00000407914:L1025P	ENSP00000251020:L1122P	L	-	2	0	SALL1	49730269	1.000000	0.71417	1.000000	0.80357	0.860000	0.49131	9.329000	0.96413	2.046000	0.60703	0.460000	0.39030	CTG		0.567	SALL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256883.2	NM_002968		16	37	0	0	0	1	0	16	37					G	51172768	A	G	51172768	3	3	221	1	0	0	0	0	1	0	0	0	13810	188	7	4	617	4	SALL1	16	51172768	Missense_Mutation	SNP	A	TCGA-HC-7752-01A-11D-2114-08		51172768	39181985	38	10227											
CNTNAP4	85445	broad.mit.edu	37	chr16	76532484	76532484	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gaccaatgacactggattgcTtgcttataaagaacatcttc	13	12	7	9	0	1	2	0	1	1	1	2	4	1	3	1	1	3	2	1	1	5	5			TCGA-HC-7752-01A-11D-2114-08	TCGA-HC-7752-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	109ba14b-307b-4a23-b09d-643fa235d0ff	bb02213c-0f97-4cea-a808-094166184ac9	g.chr16:76532484T>C	ENST00000476707.1	+	14	2406	c.2267T>C	c.(2266-2268)cTt>cCt	p.L756P	CNTNAP4_ENST00000478060.1_Missense_Mutation_p.L680P|CNTNAP4_ENST00000377504.4_Missense_Mutation_p.L704P|CNTNAP4_ENST00000469589.1_3'UTR|CNTNAP4_ENST00000307431.8_Missense_Mutation_p.L752P			Q9C0A0	CNTP4_HUMAN	contactin associated protein-like 4	753	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				cell adhesion (GO:0007155)|regulation of grooming behavior (GO:2000821)|regulation of synaptic transmission, dopaminergic (GO:0032225)|regulation of synaptic transmission, GABAergic (GO:0032228)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|presynaptic membrane (GO:0042734)				breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						ACTGGATTGCTTGCTTATAAA	0.393																																						ENST00000307431.8																			0				breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						c.(2254-2256)cTt>cCt		contactin associated protein-like 4							85	78	80					16																	76532484		1960	4202	6162	SO:0001583	missense	85445				cell adhesion|signal transduction	integral to membrane	receptor binding	g.chr16:76532484T>C	AB051550	CCDS10924.1, CCDS10924.2, CCDS73915.1	16q23.1	2008-02-05			ENSG00000152910	ENSG00000152910			18747	protein-coding gene	gene with protein product		610518				12093160	Standard	NM_033401		Approved	CASPR4, KIAA1763	uc010chb.1	Q9C0A0	OTTHUMG00000137617	ENST00000476707.1:c.2267T>C	16.37:g.76532484T>C	ENSP00000417628:p.Leu756Pro					CNTNAP4_ENST00000469589.1_3'UTR|CNTNAP4_ENST00000377504.4_Missense_Mutation_p.L704P|CNTNAP4_ENST00000476707.1_Missense_Mutation_p.L756P|CNTNAP4_ENST00000478060.1_Missense_Mutation_p.L680P	p.L752P	NM_033401.3	NP_207837.2	Q9C0A0	CNTP4_HUMAN			16	2640	+			753			Fibrinogen C-terminal.		E9PFZ6|Q86YZ7	Missense_Mutation	SNP	ENST00000476707.1	37	c.2255T>C		.	.	.	.	.	.	.	.	.	.	T	19.34	3.809488	0.70797	.	.	ENSG00000152910	ENST00000307431;ENST00000377504;ENST00000478060;ENST00000476707	T;T;T;T	0.24723	1.84;1.84;1.84;1.84	4.93	4.93	0.64822	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (1);	0.000000	0.37530	N	0.002046	T	0.52025	0.1709	.	.	.	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.75484	0.986;0.977;0.959	T	0.57843	-0.7741	9	0.87932	D	0	.	14.7099	0.69222	0.0:0.0:0.0:1.0	.	680;756;753	E9PFZ6;E9PDN6;Q9C0A0	.;.;CNTP4_HUMAN	P	752;704;680;756	ENSP00000306893:L752P;ENSP00000439733:L704P;ENSP00000418741:L680P;ENSP00000417628:L756P	ENSP00000306893:L752P	L	+	2	0	CNTNAP4	75089985	1.000000	0.71417	0.999000	0.59377	0.833000	0.47200	7.806000	0.86020	2.199000	0.70637	0.528000	0.53228	CTT		0.393	CNTNAP4-005	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000348216.1	NM_033401		17	19	0	0	0	1	0	17	19					C	76532484	T	C	76532484	3	2	221	1	0	0	0	0	1	0	0	0	3649	1609	56	4	2329	4	CNTNAP4	16	76532484	Missense_Mutation	SNP	T	TCGA-HC-7752-01A-11D-2114-08	25359716	76532484	13822269	39	10228											
CCDC57	284001	broad.mit.edu	37	chr17	80121090	80121090	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcaccttctgtctgagtcGtgtcaccagcaggtttagga	7	12	10	12	1	4	1	2	1	2	0	5	2	4	2	3	2	1	2	3	2	1	3	rs201336748		TCGA-HC-7752-01A-11D-2114-08	TCGA-HC-7752-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	109ba14b-307b-4a23-b09d-643fa235d0ff	bb02213c-0f97-4cea-a808-094166184ac9	g.chr17:80121090G>A	ENST00000389641.4	-	13	2062	c.2026C>T	c.(2026-2028)Cga>Tga	p.R676*	CCDC57_ENST00000392343.3_Nonsense_Mutation_p.R676*|RP11-1376P16.1_ENST00000582774.1_RNA|CCDC57_ENST00000327026.3_5'UTR|CCDC57_ENST00000392347.1_Nonsense_Mutation_p.R676*			Q2TAC2	CCD57_HUMAN	coiled-coil domain containing 57	676										endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(1)	16	Breast(20;0.00285)|all_neural(118;0.0878)|all_lung(278;0.0949)|Lung NSC(278;0.128)|Ovarian(332;0.227)		BRCA - Breast invasive adenocarcinoma(99;0.0232)|OV - Ovarian serous cystadenocarcinoma(97;0.0253)			TGTCTGAGTCGTGTCACCAGC	0.617													G|||	1	0.000199681	0	0	5008	,	,		18669	0		0	False		,,,				2504	0.001					ENST00000389641.4																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(1)	16						c.(2026-2028)Cga>Tga		coiled-coil domain containing 57		G	stop/ARG	4,4174		0,4,2085	147	156	153		2026	0.6	0	17		153	0,8406		0,0,4203	yes	stop-gained	CCDC57	NM_198082.2		0,4,6288	AA,AG,GG		0.0,0.0957,0.0318		676/916	80121090	4,12580	2089	4203	6292	SO:0001587	stop_gained	284001							g.chr17:80121090G>A	BC040264		17q25.3	2006-03-08			ENSG00000176155	ENSG00000176155			27564	protein-coding gene	gene with protein product						12477932	Standard	XM_006722279		Approved	FLJ00130, FLJ23754	uc002kdx.1	Q2TAC2	OTTHUMG00000140396	ENST00000389641.4:c.2026C>T	17.37:g.80121090G>A	ENSP00000374292:p.Arg676*					CCDC57_ENST00000327026.3_5'UTR|CCDC57_ENST00000392347.1_Nonsense_Mutation_p.R676*|CCDC57_ENST00000392343.3_Nonsense_Mutation_p.R676*	p.R676*			Q2TAC2	CCD57_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0232)|OV - Ovarian serous cystadenocarcinoma(97;0.0253)		13	2062	-	Breast(20;0.00285)|all_neural(118;0.0878)|all_lung(278;0.0949)|Lung NSC(278;0.128)|Ovarian(332;0.227)		676					A6NP51|A8MQC7|Q8IWG2|Q8TER3	Nonsense_Mutation	SNP	ENST00000389641.4	37	c.2026C>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	22.2|22.2	4.259674|4.259674	0.80246|0.80246	9.57E-4|9.57E-4	0.0|0.0	ENSG00000176155|ENSG00000176155	ENST00000389641;ENST00000392347;ENST00000327026;ENST00000392343|ENST00000419322	.|.	.|.	.|.	2.86|2.86	0.581|0.581	0.17407|0.17407	.|.	0.967105|.	0.08401|.	N|.	0.951395|.	.|T	.|0.38772	.|0.1053	.|.	.|.	.|.	0.09310|0.09310	N|N	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.33369	.|-0.9871	.|5	0.02654|0.45353	T|T	1|0.12	-2.432|-2.432	8.407|8.407	0.32621|0.32621	0.0:0.4809:0.5191:0.0|0.0:0.4809:0.5191:0.0	.|.	.|.	.|.	.|.	X|M	676;676;184;676|21	.|.	ENSP00000315967:R184X|ENSP00000408124:T21M	R|T	-|-	1|2	2|0	CCDC57|CCDC57	77714379|77714379	0.001000|0.001000	0.12720|0.12720	0.000000|0.000000	0.03702|0.03702	0.008000|0.008000	0.06430|0.06430	0.143000|0.143000	0.16115|0.16115	0.198000|0.198000	0.20407|0.20407	0.557000|0.557000	0.71058|0.71058	CGA|ACG		0.617	CCDC57-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000277182.3	NM_198082		75	124	0	0	0	1	0	75	124					A	80121090	G	A	80121090	4	1	221	1	0	0	0	0	0	1	0	0	2827	1153	40	1	741	1	CCDC57	17	80121090	Nonsense_Mutation	SNP	G	TCGA-HC-7752-01A-11D-2114-08		80121090	1074120	40	10229											
ATP8B3	148229	broad.mit.edu	37	chr19	1789573	1789573	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gtcctgggctggcggtgcagCcagcgggagcccgaacctcc	5	5	16	15	3	0	0	0	0	0	0	2	2	2	1	5	4	5	2	5	4	1	0			TCGA-HC-7752-01A-11D-2114-08	TCGA-HC-7752-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	109ba14b-307b-4a23-b09d-643fa235d0ff	bb02213c-0f97-4cea-a808-094166184ac9	g.chr19:1789573C>A	ENST00000310127.6	-	23	2870	c.2632G>T	c.(2632-2634)Gct>Tct	p.A878S	ATP8B3_ENST00000539485.1_Missense_Mutation_p.A888S|ATP8B3_ENST00000525591.1_Missense_Mutation_p.A841S	NM_138813.3	NP_620168.1	O60423	AT8B3_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 3	878					binding of sperm to zona pellucida (GO:0007339)	acrosomal vesicle (GO:0001669)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	23		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGCGGTGCAGCCAGCGGGAGC	0.692																																						ENST00000539485.1																			0				central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	23						c.(2662-2664)Gct>Tct		ATPase, aminophospholipid transporter, class I, type 8B, member 3							6	8	8					19																	1789573		1888	4019	5907	SO:0001583	missense	148229				ATP biosynthetic process		ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr19:1789573C>A	AA827939	CCDS45901.1, CCDS54196.1	19p13.3	2010-04-28	2010-04-28		ENSG00000130270	ENSG00000130270		"ATPases / P-type"	13535	protein-coding gene	gene with protein product	"aminophospholipid translocase ATP8B3", "potential phospholipid-transporting ATPase IK"	605866	"ATPase, Class I, type 8B, member 3", "ATPase, class I, type 8B, member 3"			11015572	Standard	NM_138813		Approved	ATPIK	uc002ltw.4	O60423	OTTHUMG00000166189	ENST00000310127.6:c.2632G>T	19.37:g.1789573C>A	ENSP00000311336:p.Ala878Ser					ATP8B3_ENST00000525591.1_Missense_Mutation_p.A841S|ATP8B3_ENST00000310127.6_Missense_Mutation_p.A878S	p.A888S			O60423	AT8B3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	23	2895	-		Hepatocellular(1079;0.137)	878					Q7Z485|Q8IVB8|Q8N4Y8|Q96M22	Missense_Mutation	SNP	ENST00000310127.6	37	c.2662G>T	CCDS45901.1	.	.	.	.	.	.	.	.	.	.	C	5.747	0.322322	0.10900	.	.	ENSG00000130270	ENST00000310127;ENST00000539485;ENST00000525591	T;T;T	0.58210	0.35;0.49;0.46	2.43	-4.87	0.03123	HAD-like domain (1);	5.433850	0.00616	N	0.000422	T	0.18841	0.0452	N	0.00500	-1.43	0.09310	N	1	B;B	0.18610	0.029;0.01	B;B	0.18561	0.014;0.022	T	0.26849	-1.0091	10	0.62326	D	0.03	.	2.6822	0.05096	0.1272:0.471:0.255:0.1468	.	878;841	O60423;Q7Z485	AT8B3_HUMAN;.	S	878;888;841	ENSP00000311336:A878S;ENSP00000443574:A888S;ENSP00000437115:A841S	ENSP00000311336:A878S	A	-	1	0	ATP8B3	1740573	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.473000	0.02339	-2.084000	0.00866	-1.360000	0.01215	GCT		0.692	ATP8B3-002	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000388279.1	NM_138813		2	1	1	0	0.0784	1	0.0832	2	1					A	1789573	C	A	1789573	3	1	221	1	0	0	0	0	1	0	0	0	1196	739	26	5	1298	5	ATP8B3	19	1789573	Missense_Mutation	SNP	C	TCGA-HC-7752-01A-11D-2114-08		1789573	57339410	41	10230											
PNPLA6	10908	broad.mit.edu	37	chr19	7624001	7624001	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cgcccgcccatcgactgcttCaagaccatggactttgggaa	9	8	10	14	3	1	1	1	0	0	1	2	4	1	3	3	2	1	1	3	2	2	2			TCGA-HC-7752-01A-11D-2114-08	TCGA-HC-7752-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	109ba14b-307b-4a23-b09d-643fa235d0ff	bb02213c-0f97-4cea-a808-094166184ac9	g.chr19:7624001C>G	ENST00000221249.6	+	31	3980	c.3549C>G	c.(3547-3549)ttC>ttG	p.F1183L	PNPLA6_ENST00000600737.1_Missense_Mutation_p.F1221L|PNPLA6_ENST00000545201.2_Missense_Mutation_p.F1156L|PNPLA6_ENST00000414982.3_Missense_Mutation_p.F1231L|PNPLA6_ENST00000450331.3_Missense_Mutation_p.F1183L	NM_006702.4	NP_006693.3	Q8IY17	PLPL6_HUMAN	patatin-like phospholipase domain containing 6	1222					angiogenesis (GO:0001525)|cell death (GO:0008219)|lipid catabolic process (GO:0016042)|organ morphogenesis (GO:0009887)|phosphatidylcholine metabolic process (GO:0046470)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	lysophospholipase activity (GO:0004622)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)	35						TCGACTGCTTCAAGACCATGG	0.567																																						ENST00000221249.6																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)	35						c.(3547-3549)ttC>ttG		patatin-like phospholipase domain containing 6							73	56	62					19																	7624001		2203	4300	6503	SO:0001583	missense	10908				cell death|lipid catabolic process|phosphatidylcholine metabolic process	endoplasmic reticulum membrane|integral to membrane	lysophospholipase activity	g.chr19:7624001C>G	AJ004832	CCDS32891.1, CCDS54206.1, CCDS54207.1, CCDS59343.1	19p13.2	2013-09-11						"Patatin-like phospholipase domain containing"	16268	protein-coding gene	gene with protein product	"neuropathy target esterase"	603197				9576844, 16799181, 19029121	Standard	NM_006702		Approved	NTE, sws, iPLA2delta, SPG39	uc010xjq.2	Q8IY17		ENST00000221249.6:c.3549C>G	19.37:g.7624001C>G	ENSP00000221249:p.Phe1183Leu					PNPLA6_ENST00000414982.3_Missense_Mutation_p.F1231L|PNPLA6_ENST00000545201.2_Missense_Mutation_p.F1156L|PNPLA6_ENST00000450331.3_Missense_Mutation_p.F1183L|PNPLA6_ENST00000600737.1_Missense_Mutation_p.F1221L	p.F1183L	NM_006702.4	NP_006693.3	Q8IY17	PLPL6_HUMAN			31	3980	+			1222					A6NGQ0|B4DFB9|B7Z7T2|F5H5K9|J3KQS3|O60859|Q86W58|Q9UG58	Missense_Mutation	SNP	ENST00000221249.6	37	c.3549C>G	CCDS32891.1	.	.	.	.	.	.	.	.	.	.	c	26.4	4.738736	0.89573	.	.	ENSG00000032444	ENST00000221249;ENST00000545201;ENST00000414982;ENST00000450331	T;T;T;T	0.75589	-0.95;-0.95;-0.95;-0.95	4.97	4.97	0.65823	Acyl transferase/acyl hydrolase/lysophospholipase (1);	0.000000	0.85682	D	0.000000	D	0.82300	0.5007	M	0.80616	2.505	0.58432	D	0.999996	P;P;D;P	0.54964	0.948;0.859;0.969;0.94	B;P;P;P	0.52031	0.387;0.511;0.591;0.688	D	0.85778	0.1359	10	0.87932	D	0	-37.2483	15.7601	0.78073	0.0:1.0:0.0:0.0	.	1222;1156;1221;1183	Q8IY17;F5H5K9;Q8IY17-3;Q8IY17-2	PLPL6_HUMAN;.;.;.	L	1183;1156;1231;1183	ENSP00000221249:F1183L;ENSP00000443323:F1156L;ENSP00000407509:F1231L;ENSP00000394348:F1183L	ENSP00000221249:F1183L	F	+	3	2	PNPLA6	7530001	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	2.037000	0.41174	2.317000	0.78254	0.561000	0.74099	TTC		0.567	PNPLA6-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459275.1	NM_006702		21	37	0	0	0	1	0	21	37					G	7624001	C	G	7624001	3	3	221	1	0	0	0	0	1	0	0	0	12169	825	29	5	3807	5	PNPLA6	19	7624001	Missense_Mutation	SNP	C	TCGA-HC-7752-01A-11D-2114-08	5834428	7624001	51504982	42	10231											
WFDC6	57119	broad.mit.edu	37	chr20	44167989	44167989	+	IGR	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttcagcgtgcccaggttcctGgatgtcccccaaaaggatga	9	9	11	12	1	1	1	1	1	0	0	3	3	3	3	4	3	2	1	4	3	2	2			TCGA-HC-7752-01A-11D-2114-08	TCGA-HC-7752-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	109ba14b-307b-4a23-b09d-643fa235d0ff	bb02213c-0f97-4cea-a808-094166184ac9	g.chr20:44167989G>C	ENST00000354280.4	-	0	1987				WFDC6_ENST00000600168.1_Missense_Mutation_p.Q20E|WFDC6_ENST00000372670.3_Missense_Mutation_p.Q20E|EPPIN-WFDC6_ENST00000504988.1_Intron|EPPIN_ENST00000555685.1_Intron	NM_020398.3	NP_065131.1	O95925	EPPI_HUMAN	epididymal peptidase inhibitor						defense response to bacterium (GO:0042742)|negative regulation of peptidase activity (GO:0010466)	extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)										CCAGGTTCCTGGATGTCCCCC	0.502																																						ENST00000600168.1																			0				breast(1)|kidney(1)|large_intestine(2)|lung(2)	6						c.(58-60)Cag>Gag		WAP four-disulfide core domain 6							121	107	112					20																	44167989		2203	4300	6503	SO:0001628	intergenic_variant	140870							g.chr20:44167989G>C	AF286370	CCDS13359.1	20q13.12	2014-01-21	2012-08-22	2012-08-22	ENSG00000101448	ENSG00000101448		"WAP four-disulfide core domain containing"	15932	protein-coding gene	gene with protein product	"epididymal protease inhibitor", "cancer/testis antigen 72"	609031	"serine protease inhibitor-like, with Kunitz and WAP domains 1 (eppin)", "serine peptidase inhibitor-like, with Kunitz and WAP domains 1 (eppin)"	SPINLW1		11404006, 12206714	Standard	NM_020398		Approved	EPPIN1, EPPIN2, EPPIN3, dJ461P17.2, WAP7, WFDC7, CT71		O95925	OTTHUMG00000032588		20.37:g.44167989G>C						WFDC6_ENST00000372670.3_Missense_Mutation_p.Q20E|EPPIN_ENST00000555685.1_Intron|EPPIN-WFDC6_ENST00000504988.1_Intron	p.Q20E							1	145	-		Myeloproliferative disorder(115;0.0122)						A6PVD6|Q86TP9|Q96SD7|Q9HD30	Missense_Mutation	SNP	ENST00000354280.4	37	c.58C>G	CCDS13359.1	.	.	.	.	.	.	.	.	.	.	G	15.46	2.840413	0.51057	.	.	ENSG00000243543	ENST00000372670;ENST00000372665	T	0.39997	1.05	3.42	3.42	0.39159	.	.	.	.	.	T	0.49558	0.1564	.	.	.	0.44908	D	0.997921	D	0.58268	0.982	P	0.52554	0.702	T	0.54925	-0.8220	8	0.87932	D	0	.	10.6249	0.45502	0.0:0.0:1.0:0.0	.	20	Q9BQY6-2	.	E	20	ENSP00000361750:Q20E	ENSP00000361750:Q20E	Q	-	1	0	WFDC6	43601403	0.375000	0.25089	0.268000	0.24571	0.009000	0.06853	1.434000	0.34958	2.209000	0.71365	0.455000	0.32223	CAG		0.502	EPPIN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000079467.4			37	40	0	0	0	1	0	37	40					C	44167989	G	C	44167989	1	2	221	0	1	0	0	0	0	0	0	0	17352	1357	47	5		5	WFDC6	20	44167989	IGR	SNP	G	TCGA-HC-7752-01A-11D-2114-08		44167989	18857531	43	10232											
PKNOX1	5316	broad.mit.edu	37	chr21	44427675	44427675	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgcagaaggagtgagcccTccccctgtggagtctcagac	9	7	13	12	0	1	3	1	1	1	2	3	6	2	5	3	2	2	1	3	2	1	0	rs374571145		TCGA-HC-7752-01A-11D-2114-08	TCGA-HC-7752-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	109ba14b-307b-4a23-b09d-643fa235d0ff	bb02213c-0f97-4cea-a808-094166184ac9	g.chr21:44427675T>C	ENST00000291547.5	+	3	337	c.126T>C	c.(124-126)ccT>ccC	p.P42P	PKNOX1_ENST00000432907.2_5'UTR	NM_004571.3	NP_004562.2	P55347	PKNX1_HUMAN	PBX/knotted 1 homeobox 1	42					angiogenesis (GO:0001525)|camera-type eye development (GO:0043010)|erythrocyte differentiation (GO:0030218)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|T cell differentiation (GO:0030217)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(3)|endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(8)|ovary(1)|prostate(1)	22						GAGTGAGCCCTCCCCCTGTGG	0.522																																						ENST00000291547.5																			0				cervix(3)|endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(8)|ovary(1)|prostate(1)	22						c.(124-126)ccT>ccC		PBX/knotted 1 homeobox 1		T		0,4406		0,0,2203	119	117	118		126	-3.2	0.9	21		118	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	PKNOX1	NM_004571.3		0,1,6502	CC,CT,TT		0.0116,0.0,0.0077		42/437	44427675	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	5316						sequence-specific DNA binding	g.chr21:44427675T>C		CCDS13692.1, CCDS68211.1	21q22.3	2011-06-20			ENSG00000160199	ENSG00000160199		"Homeoboxes / TALE class"	9022	protein-coding gene	gene with protein product		602100				9479508	Standard	NM_001286258		Approved	PREP1	uc002zcq.1	P55347	OTTHUMG00000086833	ENST00000291547.5:c.126T>C	21.37:g.44427675T>C						PKNOX1_ENST00000432907.2_5'UTR	p.P42P	NM_004571.3	NP_004562.2	P55347	PKNX1_HUMAN			3	337	+			42					O00528|Q8IWT7	Silent	SNP	ENST00000291547.5	37	c.126T>C	CCDS13692.1																																																																																				0.522	PKNOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195520.3			3	151	0	0	0	1	0	3	151					C	44427675	T	C	44427675	2	2	221	1	0	0	0	0	0	0	0	1	11982	1538	54	4		4	PKNOX1	21	44427675	Silent	SNP	T	TCGA-HC-7752-01A-11D-2114-08		44427675	3702220	44	10233											
COL18A1	80781	broad.mit.edu	37	chr21	46900696	46900696	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aggccgctttggggtgaacaGctccgacgtcccaggacccg	7	6	14	14	4	0	1	0	1	0	0	2	3	2	2	4	4	2	2	4	4	1	1	rs367836626		TCGA-HC-7752-01A-11D-2114-08	TCGA-HC-7752-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	109ba14b-307b-4a23-b09d-643fa235d0ff	bb02213c-0f97-4cea-a808-094166184ac9	g.chr21:46900696G>A	ENST00000359759.4	+	12	2801	c.2780G>A	c.(2779-2781)aGc>aAc	p.S927N	COL18A1_ENST00000400337.2_Missense_Mutation_p.S512N|COL18A1_ENST00000355480.5_Missense_Mutation_p.S692N			P39060	COIA1_HUMAN	collagen, type XVIII, alpha 1	927	Triple-helical region 3 (COL3).				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|endothelial cell morphogenesis (GO:0001886)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of cell proliferation (GO:0008285)|organ morphogenesis (GO:0009887)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell apoptotic process (GO:2000353)|response to drug (GO:0042493)|response to hydrostatic pressure (GO:0051599)|visual perception (GO:0007601)	basement membrane (GO:0005604)|collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|structural molecule activity (GO:0005198)			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25				Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929)		GGGGTGAACAGCTCCGACGTC	0.721																																						ENST00000359759.4																			0				breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25						c.(2779-2781)aGc>aAc		collagen, type XVIII, alpha 1		G	ASN/SER,ASN/SER	0,3846		0,0,1923	20	26	24		2075,1535	4	0.2	21		24	1,8223		0,1,4111	no	missense,missense	COL18A1	NM_030582.3,NM_130445.2	46,46	0,1,6034	AA,AG,GG		0.0122,0.0,0.0083	possibly-damaging,possibly-damaging	692/1520,512/1340	46900696	1,12069	1923	4112	6035	SO:0001583	missense	80781				cell adhesion|negative regulation of cell proliferation|organ morphogenesis|visual perception	collagen|extracellular space	extracellular matrix structural constituent|metal ion binding|protein binding	g.chr21:46900696G>A		CCDS42971.1, CCDS42972.1	21q22.3	2013-01-16			ENSG00000182871	ENSG00000182871		"Collagens"	2195	protein-coding gene	gene with protein product	"endostatin"	120328	"Knobloch syndrome, type 1"	KNO		8188291, 8776601, 10942434, 17546652	Standard	NM_130445		Approved	KS, KNO1	uc002zhi.3	P39060	OTTHUMG00000090407	ENST00000359759.4:c.2780G>A	21.37:g.46900696G>A	ENSP00000352798:p.Ser927Asn					COL18A1_ENST00000400337.2_Missense_Mutation_p.S512N|COL18A1_ENST00000355480.5_Missense_Mutation_p.S692N	p.S927N			P39060	COIA1_HUMAN		Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929)	12	2801	+			927			Triple-helical region 3 (COL3).		A8MVI4|Q58EX6|Q6RZ39|Q6RZ40|Q6RZ41|Q8N4S4|Q8WXI5|Q96T70|Q9UK38|Q9Y6Q7|Q9Y6Q8	Missense_Mutation	SNP	ENST00000359759.4	37	c.2780G>A		.	.	.	.	.	.	.	.	.	.	G	10.99	1.508000	0.27036	0.0	1.22E-4	ENSG00000182871	ENST00000400337;ENST00000400347;ENST00000355480;ENST00000359759;ENST00000539645	D;D;D	0.90900	-2.73;-2.75;-2.62	4.04	4.04	0.47022	.	0.527792	0.18619	N	0.135904	D	0.85279	0.5660	L	0.27053	0.805	0.09310	N	1	P;B;B	0.38711	0.643;0.361;0.241	B;B;B	0.40901	0.343;0.232;0.104	T	0.78471	-0.2191	10	0.44086	T	0.13	.	12.1016	0.53788	0.0:0.0:1.0:0.0	.	927;692;512	P39060;P39060-1;P39060-2	COIA1_HUMAN;.;.	N	512;512;692;927;927	ENSP00000383191:S512N;ENSP00000347665:S692N;ENSP00000352798:S927N	ENSP00000347665:S692N	S	+	2	0	COL18A1	45725124	0.029000	0.19370	0.238000	0.24106	0.062000	0.15995	1.572000	0.36461	1.985000	0.57927	0.555000	0.69702	AGC		0.721	COL18A1-201	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000206827.1			13	17	0	0	0	1	0	13	17					A	46900696	G	A	46900696	3	1	221	1	0	0	0	0	1	0	0	0	3675	971	34	3	2940	3	COL18A1	21	46900696	Missense_Mutation	SNP	G	TCGA-HC-7752-01A-11D-2114-08	2473021	46900696	1229199	45	10234											
PARVG	64098	broad.mit.edu	37	chr22	44585032	44585032	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agctggaagcagaggacatcGccctgacagccacaagccag	13	3	12	13	1	0	2	0	1	0	1	1	4	0	4	3	2	4	2	3	2	2	0	rs200000493		TCGA-HC-7752-01A-11D-2114-08	TCGA-HC-7752-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	109ba14b-307b-4a23-b09d-643fa235d0ff	bb02213c-0f97-4cea-a808-094166184ac9	g.chr22:44585032G>A	ENST00000444313.3	+	6	770	c.286G>A	c.(286-288)Gcc>Acc	p.A96T	PARVG_ENST00000415224.1_Missense_Mutation_p.A96T|PARVG_ENST00000422871.1_Missense_Mutation_p.A96T	NM_022141.5	NP_071424.1	Q9HBI0	PARVG_HUMAN	parvin, gamma	96	CH 1. {ECO:0000255|PROSITE- ProRule:PRU00044}.				actin cytoskeleton reorganization (GO:0031532)|cell-matrix adhesion (GO:0007160)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)	actin binding (GO:0003779)			endometrium(2)|kidney(1)|large_intestine(4)|lung(10)	17		Ovarian(80;0.024)|all_neural(38;0.0299)				AGAGGACATCGCCCTGACAGC	0.652																																						ENST00000422871.1																			0				endometrium(2)|kidney(1)|large_intestine(4)|lung(10)	17						c.(286-288)Gcc>Acc		parvin, gamma							105	93	97					22																	44585032		2203	4300	6503	SO:0001583	missense	64098				cell-matrix adhesion	cytoplasm|cytoskeleton|focal adhesion	actin binding	g.chr22:44585032G>A	AF237772	CCDS14057.1	22q13.31	2013-01-24			ENSG00000138964	ENSG00000138964		"Parvins"	14654	protein-coding gene	gene with protein product		608122				11171322	Standard	NM_022141		Approved		uc003bep.4	Q9HBI0	OTTHUMG00000150473	ENST00000444313.3:c.286G>A	22.37:g.44585032G>A	ENSP00000391583:p.Ala96Thr					PARVG_ENST00000415224.1_Missense_Mutation_p.A96T|PARVG_ENST00000444313.2_Missense_Mutation_p.A96T	p.A96T	NM_001137605.1	NP_001131077.1	Q9HBI0	PARVG_HUMAN			6	710	+		Ovarian(80;0.024)|all_neural(38;0.0299)	96			CH 1.		B4DDW5|E7EVM6|Q9BQX5|Q9NSG1	Missense_Mutation	SNP	ENST00000444313.3	37	c.286G>A	CCDS14057.1	.	.	.	.	.	.	.	.	.	.	G	6.297	0.422888	0.11928	.	.	ENSG00000138964	ENST00000422871;ENST00000444313;ENST00000415224	D;D;D	0.94862	-3.54;-3.54;-3.54	4.86	2.71	0.32032	Calponin homology domain (4);	0.066647	0.64402	D	0.000012	D	0.87981	0.6315	N	0.26130	0.795	0.42608	D	0.993305	D	0.55172	0.97	P	0.47118	0.538	D	0.84913	0.0849	10	0.02654	T	1	-19.638	7.1608	0.25662	0.093:0.0:0.7309:0.1761	.	96	Q9HBI0	PARVG_HUMAN	T	96	ENSP00000391453:A96T;ENSP00000391583:A96T;ENSP00000416761:A96T	ENSP00000349378:A96T	A	+	1	0	PARVG	42916365	0.962000	0.33011	0.008000	0.14137	0.331000	0.28603	2.592000	0.46171	0.418000	0.25898	0.555000	0.69702	GCC		0.652	PARVG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318238.4	NM_022141		7	64	0	0	0	1	0	7	64					A	44585032	G	A	44585032	3	1	221	1	0	0	0	0	1	0	0	0	11470	1087	38	1	300	1	PARVG	22	44585032	Missense_Mutation	SNP	G	TCGA-HC-7752-01A-11D-2114-08		44585032	6719534	46	10235											
MCF2	4168	broad.mit.edu	37	chrX	138678882	138678882	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttcttgtgccctatccaaacGctgaatccaccttgcattat	9	14	5	13	1	1	1	0	1	1	0	3	1	3	1	4	0	3	2	4	0	4	5			TCGA-HC-7752-01A-11D-2114-08	TCGA-HC-7752-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	109ba14b-307b-4a23-b09d-643fa235d0ff	bb02213c-0f97-4cea-a808-094166184ac9	g.chrX:138678882G>A	ENST00000370576.4	-	19	2312	c.2103C>T	c.(2101-2103)agC>agT	p.S701S	MCF2_ENST00000370578.4_Silent_p.S846S|MCF2_ENST00000536274.1_Silent_p.S662S|MCF2_ENST00000338585.6_Silent_p.S717S|MCF2_ENST00000520602.1_Silent_p.S761S|MCF2_ENST00000414978.1_Silent_p.S761S|MCF2_ENST00000519895.1_Silent_p.S777S|AL033403.1_ENST00000401295.2_RNA|MCF2_ENST00000370573.4_Silent_p.S701S	NM_001171879.1|NM_005369.4	NP_001165350.1|NP_005360.3	P10911	MCF2_HUMAN	MCF.2 cell line derived transforming sequence	701	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				apoptotic signaling pathway (GO:0097190)|dendrite development (GO:0016358)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(2)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(15)|lung(34)|pancreas(1)|pleura(1)|prostate(1)	62	Acute lymphoblastic leukemia(192;0.000127)					CTATCCAAACGCTGAATCCAC	0.388																																						ENST00000520602.1																			0				NS(2)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(15)|lung(34)|pancreas(1)|pleura(1)|prostate(1)	62						c.(2281-2283)agC>agT		MCF.2 cell line derived transforming sequence							196	167	177					X																	138678882		2203	4299	6502	SO:0001819	synonymous_variant	4168				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|membrane|membrane fraction	protein binding|Rho guanyl-nucleotide exchange factor activity	g.chrX:138678882G>A		CCDS14667.1, CCDS48175.1, CCDS55514.1, CCDS55515.1, CCDS55516.1, CCDS55517.1	Xq26.3-q27.1	2012-07-24			ENSG00000101977	ENSG00000101977		"Rho guanine nucleotide exchange factors"	6940	protein-coding gene	gene with protein product	"Oncogene MCF2 (oncogene DBL)"	311030				2577874, 1611909	Standard	NM_001099855		Approved	DBL, ARHGEF21	uc011mwo.1	P10911	OTTHUMG00000022537	ENST00000370576.4:c.2103C>T	X.37:g.138678882G>A						MCF2_ENST00000370573.4_Silent_p.S701S|MCF2_ENST00000338585.6_Silent_p.S717S|MCF2_ENST00000370576.4_Silent_p.S701S|MCF2_ENST00000370578.4_Silent_p.S846S|MCF2_ENST00000519895.1_Silent_p.S777S|MCF2_ENST00000536274.1_Silent_p.S662S|MCF2_ENST00000414978.1_Silent_p.S761S	p.S761S			P10911	MCF2_HUMAN			22	2568	-	Acute lymphoblastic leukemia(192;0.000127)		701			PH.		B7Z3Y5|B7Z869|B7ZAV1|E9PH77|F5H091|P14919|Q5JYJ2|Q5JYJ3|Q5JYJ4|Q8IUF3|Q8IUF4|Q9UJB3	Silent	SNP	ENST00000370576.4	37	c.2283C>T	CCDS14667.1	.	.	.	.	.	.	.	.	.	.	g	7.924	0.739247	0.15642	.	.	ENSG00000101977	ENST00000437564	.	.	.	5.78	-6.83	0.01693	.	.	.	.	.	T	0.64360	0.2591	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.67711	-0.5600	4	.	.	.	.	16.6015	0.84817	0.4345:0.0:0.5655:0.0	.	.	.	.	C	205	.	.	R	-	1	0	MCF2	138506548	0.993000	0.37304	0.273000	0.24645	0.876000	0.50452	0.476000	0.22180	-2.073000	0.00878	-1.272000	0.01410	CGT		0.388	MCF2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058560.1	NM_005369		7	53	0	0	0	1	0	7	53					A	138678882	G	A	138678882	2	1	221	1	0	0	0	0	0	0	0	1	9378	1078	38	1		1	MCF2	23	138678882	Silent	SNP	G	TCGA-HC-7752-01A-11D-2114-08		138678882	16591678	47	10236											
ARHGAP4	393	broad.mit.edu	37	chrX	153187219	153187219	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcccgccgcagctcgccctgCagctccaggcagcgcagctg	5	5	12	19	4	0	0	0	0	0	0	3	0	2	0	4	1	5	7	4	1	0	0			TCGA-HC-7752-01A-11D-2114-08	TCGA-HC-7752-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	109ba14b-307b-4a23-b09d-643fa235d0ff	bb02213c-0f97-4cea-a808-094166184ac9	g.chrX:153187219C>A	ENST00000350060.5	-	2	152	c.111G>T	c.(109-111)ctG>ctT	p.L37L	ARHGAP4_ENST00000393721.1_Silent_p.L37L|ARHGAP4_ENST00000370028.3_Silent_p.L37L|ARHGAP4_ENST00000537206.1_Silent_p.L14L|ARHGAP4_ENST00000370016.1_Silent_p.L37L	NM_001666.4	NP_001657.3	P98171	RHG04_HUMAN	Rho GTPase activating protein 4	37	FCH. {ECO:0000255|PROSITE- ProRule:PRU00083}.				apoptotic signaling pathway (GO:0097190)|cytoskeleton organization (GO:0007010)|negative regulation of axon extension (GO:0030517)|negative regulation of fibroblast migration (GO:0010764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of signal transduction (GO:0009967)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)	Rho GTPase activator activity (GO:0005100)|SH3/SH2 adaptor activity (GO:0005070)			central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	14	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GCTCGCCCTGCAGCTCCAGGC	0.687																																						ENST00000370028.3																			0				central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	14						c.(109-111)ctG>ctT		Rho GTPase activating protein 4							6	7	7					X																	153187219		2144	4161	6305	SO:0001819	synonymous_variant	393				apoptosis|cytoskeleton organization|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|Rho protein signal transduction	cytosol|focal adhesion|nucleus	Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity	g.chrX:153187219C>A	X78817	CCDS14736.1, CCDS55540.1	Xq28	2010-02-09			ENSG00000089820	ENSG00000089820		"Rho GTPase activating proteins"	674	protein-coding gene	gene with protein product	"Rho-GAP hematopoietic protein C1"	300023				8570618	Standard	NM_001666		Approved	KIAA0131, C1, p115, RhoGAP4, SrGAP4	uc004fjk.2	P98171	OTTHUMG00000024226	ENST00000350060.5:c.111G>T	X.37:g.153187219C>A						ARHGAP4_ENST00000393721.1_Silent_p.L37L|ARHGAP4_ENST00000537206.1_Silent_p.L14L|ARHGAP4_ENST00000370016.1_Silent_p.L37L|ARHGAP4_ENST00000350060.5_Silent_p.L37L	p.L37L	NM_001164741.1	NP_001158213.1	P98171	RHG04_HUMAN			2	168	-	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		37			FCH.		Q14144|Q86UY3	Silent	SNP	ENST00000350060.5	37	c.111G>T	CCDS14736.1																																																																																				0.687	ARHGAP4-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000061119.1	NM_001666		4	0	1	0	3.59834e-05	1	3.98114e-05	4	0					A	153187219	C	A	153187219	2	1	221	1	0	0	0	0	0	0	0	1	885	697	25	5		5	ARHGAP4	23	153187219	Silent	SNP	C	TCGA-HC-7752-01A-11D-2114-08	14508337	153187219	2083341	48	10237											
PCDH11Y	83259	broad.mit.edu	37	chrY	4968733	4968733	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	accttcgaggtacctgtgtcCgtacacaccagaccggtagg	9	8	11	13	3	0	1	0	0	0	1	2	2	1	1	5	3	2	3	5	3	3	4			TCGA-HC-7752-01A-11D-2114-08	TCGA-HC-7752-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	109ba14b-307b-4a23-b09d-643fa235d0ff	bb02213c-0f97-4cea-a808-094166184ac9	g.chrY:4968733C>T	ENST00000333703.4	+	5	3594	c.3081C>T	c.(3079-3081)tcC>tcT	p.S1027S	PCDH11Y_ENST00000215473.6_Silent_p.S1038S|PCDH11Y_ENST00000362095.5_Silent_p.S1038S	NM_001278619.1|NM_032971.2	NP_001265548.1|NP_116753.1	Q9BZA8	PC11Y_HUMAN	protocadherin 11 Y-linked	1038					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|kidney(2)|large_intestine(7)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						TACCTGTGTCCGTACACACCA	0.403																																						ENST00000333703.4																			0				autonomic_ganglia(1)|kidney(2)|large_intestine(7)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						c.(3079-3081)tcC>tcT		protocadherin 11 Y-linked																																				SO:0001819	synonymous_variant	83259				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chrY:4968733C>T	AF332217	CCDS14776.1, CCDS14777.1, CCDS76066.1	Yp11.2	2010-01-26	2002-05-22	2002-05-24	ENSG00000099715	ENSG00000099715		"Cadherins / Protocadherins : Non-clustered"	15813	protein-coding gene	gene with protein product		400022	"protocadherin 22"	PCDH22		10644456, 11003707	Standard	NM_032971		Approved	PCDHY	uc004fqo.3	Q9BZA8	OTTHUMG00000035105	ENST00000333703.4:c.3081C>T	Y.37:g.4968733C>T						PCDH11Y_ENST00000215473.6_Silent_p.S1038S|PCDH11Y_ENST00000362095.5_Silent_p.S1038S	p.S1027S	NM_001278619.1|NM_032971.2	NP_001265548.1|NP_116753.1	Q9BZA8	PC11Y_HUMAN			5	3594	+			1038					Q70LR6|Q70LR8|Q70LS0|Q70LS1|Q70LS2|Q70LS3|Q70LS4|Q70LS5|Q8WY34|Q9BZA9|Q9H4E1	Silent	SNP	ENST00000333703.4	37	c.3081C>T	CCDS14776.1																																																																																				0.403	PCDH11Y-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084979.2	NM_032973		4	67	0	0	0	1	0	4	67					T	4968733	C	T	4968733	2	4	221	1	0	0	0	0	0	0	0	1	11509	639	23	2		2	PCDH11Y	24	4968733	Silent	SNP	C	TCGA-HC-7752-01A-11D-2114-08		4968733	54404833	49	10238											
KCNA10	3744	broad.mit.edu	37	chr1	111061227	111061227	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cccggaagcttggagaaggcCgtctcatggttggtgctttc	6	11	14	10	2	1	1	1	0	1	1	3	3	1	2	2	5	2	3	2	5	2	3	rs543046084		TCGA-HC-7817-01B-11D-A29Q-08	TCGA-HC-7817-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbec5e2a-4b00-4c72-ab57-6594b7901be0	c62fbae9-4356-4b26-8b3f-daf9c77e3a62	g.chr1:111061227C>T	ENST00000369771.2	-	1	570	c.183G>A	c.(181-183)acG>acA	p.T61T		NM_005549.2	NP_005540.1	Q16322	KCA10_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 10	61					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|intracellular cyclic nucleotide activated cation channel activity (GO:0005221)	p.T61T(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(3)|skin(1)|urinary_tract(1)	35		all_cancers(81;4.57e-06)|all_epithelial(167;1.52e-05)|all_lung(203;0.000152)|Lung NSC(277;0.000301)		Lung(183;0.0238)|all cancers(265;0.0874)|Colorectal(144;0.103)|Epithelial(280;0.116)|LUSC - Lung squamous cell carcinoma(189;0.134)	Dalfampridine(DB06637)	TGGAGAAGGCCGTCTCATGGT	0.582													C|||	1	0.000199681	0	0.0014	5008	,	,		17159	0		0	False		,,,				2504	0					ENST00000369771.2																			1	Substitution - coding silent(1)	p.T61T(1)	large_intestine(1)	endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(3)|skin(1)|urinary_tract(1)	35						c.(181-183)acG>acA		potassium voltage-gated channel, shaker-related subfamily, member 10							84	92	89					1																	111061227		2203	4300	6503	SO:0001819	synonymous_variant	3744					voltage-gated potassium channel complex	intracellular cyclic nucleotide activated cation channel activity|voltage-gated potassium channel activity	g.chr1:111061227C>T	U96110	CCDS826.1	1p13.1	2012-07-05			ENSG00000143105	ENSG00000143105		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6219	protein-coding gene	gene with protein product		602420				16382104	Standard	NM_005549		Approved	Kv1.8	uc001dzt.1	Q16322	OTTHUMG00000022785	ENST00000369771.2:c.183G>A	1.37:g.111061227C>T							p.T61T	NM_005549.2	NP_005540.1	Q16322	KCA10_HUMAN		Lung(183;0.0238)|all cancers(265;0.0874)|Colorectal(144;0.103)|Epithelial(280;0.116)|LUSC - Lung squamous cell carcinoma(189;0.134)	1	570	-		all_cancers(81;4.57e-06)|all_epithelial(167;1.52e-05)|all_lung(203;0.000152)|Lung NSC(277;0.000301)	61						Silent	SNP	ENST00000369771.2	37	c.183G>A	CCDS826.1																																																																																				0.582	KCNA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059081.1	NM_005549		5	118	0	0	0	1	0	5	118					T	111061227	C	T	111061227	2	4	222	1	0	0	0	0	0	0	0	1	8002	639	23	2		2	KCNA10	1	111061227	Silent	SNP	C	TCGA-HC-7817-01B-11D-A29Q-08		111061227	138189394	1	10239											
MEF2D	4209	broad.mit.edu	37	chr1	156446862	156446862	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgactcgcaggtcgggcttgCggctgggggctccaagctgg	4	8	18	11	3	0	1	0	1	0	0	3	1	1	1	1	6	2	5	1	6	1	1			TCGA-HC-7817-01B-11D-A29Q-08	TCGA-HC-7817-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbec5e2a-4b00-4c72-ab57-6594b7901be0	c62fbae9-4356-4b26-8b3f-daf9c77e3a62	g.chr1:156446862C>T	ENST00000348159.4	-	7	1277	c.797G>A	c.(796-798)cGc>cAc	p.R266H	MEF2D_ENST00000353795.3_Missense_Mutation_p.R220H|MEF2D_ENST00000368240.2_Missense_Mutation_p.R266H|MEF2D_ENST00000340875.5_Missense_Mutation_p.R265H|MEF2D_ENST00000360595.3_Missense_Mutation_p.R266H|MEF2D_ENST00000464356.2_Missense_Mutation_p.R265H	NM_005920.2	NP_005911.1	Q14814	MEF2D_HUMAN	myocyte enhancer factor 2D	266					adult heart development (GO:0007512)|apoptotic process (GO:0006915)|chondrocyte differentiation (GO:0002062)|endochondral ossification (GO:0001958)|muscle organ development (GO:0007517)|nervous system development (GO:0007399)|osteoblast differentiation (GO:0001649)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal muscle cell differentiation (GO:0035914)|transcription from RNA polymerase II promoter (GO:0006366)	intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	activating transcription factor binding (GO:0033613)|histone deacetylase binding (GO:0042826)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(4)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1)	15	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					GTCGGGCTTGCGGCTGGGGGC	0.617																																						ENST00000348159.4																			0				endometrium(4)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1)	15						c.(796-798)cGc>cAc		myocyte enhancer factor 2D							75	74	74					1																	156446862		2203	4300	6503	SO:0001583	missense	4209				apoptosis|muscle organ development|nervous system development|positive regulation of transcription from RNA polymerase II promoter	nucleus	activating transcription factor binding|histone deacetylase binding|RNA polymerase II regulatory region sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity	g.chr1:156446862C>T	BC054520	CCDS1143.1, CCDS60304.1	1q12-q23	2008-02-05	2007-04-24		ENSG00000116604	ENSG00000116604		"Myocyte enhancer factors"	6997	protein-coding gene	gene with protein product		600663				8269842	Standard	NM_005920		Approved		uc001fpb.4	Q14814	OTTHUMG00000033095	ENST00000348159.4:c.797G>A	1.37:g.156446862C>T	ENSP00000271555:p.Arg266His					MEF2D_ENST00000353795.3_Missense_Mutation_p.R220H|MEF2D_ENST00000464356.1_Intron|MEF2D_ENST00000368240.2_Missense_Mutation_p.R266H|MEF2D_ENST00000340875.5_Missense_Mutation_p.R265H|MEF2D_ENST00000360595.3_Missense_Mutation_p.R266H	p.R266H	NM_005920.2	NP_005911.1	Q14814	MEF2D_HUMAN			7	1277	-	all_hematologic(923;0.088)|Hepatocellular(266;0.158)		266					D3DVC0|Q14815|Q5T9U5|Q5T9U6	Missense_Mutation	SNP	ENST00000348159.4	37	c.797G>A	CCDS1143.1	.	.	.	.	.	.	.	.	.	.	C	34	5.368742	0.95900	.	.	ENSG00000116604	ENST00000348159;ENST00000340875;ENST00000368240;ENST00000353795;ENST00000360595;ENST00000454816	T;T;T;T;T;T	0.38240	1.15;1.15;1.15;1.15;1.15;1.15	5.4	5.4	0.78164	.	0.000000	0.85682	D	0.000000	T	0.58581	0.2132	M	0.82823	2.61	0.80722	D	1	D;P;P	0.89917	1.0;0.896;0.939	D;B;P	0.87578	0.998;0.246;0.565	T	0.63427	-0.6640	10	0.59425	D	0.04	-16.7364	17.7508	0.88432	0.0:1.0:0.0:0.0	.	271;266;266	Q4LE66;Q14814;Q14814-4	.;MEF2D_HUMAN;.	H	266;265;266;220;266;265	ENSP00000271555:R266H;ENSP00000343159:R265H;ENSP00000357223:R266H;ENSP00000344705:R220H;ENSP00000353803:R266H;ENSP00000388505:R265H	ENSP00000343159:R265H	R	-	2	0	MEF2D	154713486	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.298000	0.78815	2.524000	0.85096	0.655000	0.94253	CGC		0.617	MEF2D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080562.2	NM_005920		4	153	0	0	0	1	0	4	153					T	156446862	C	T	156446862	3	4	222	1	0	0	0	0	1	0	0	0	9458	768	27	1	792	1	MEF2D	1	156446862	Missense_Mutation	SNP	C	TCGA-HC-7817-01B-11D-A29Q-08	45385635	156446862	92803759	2	10240											
DCAF8	50717	broad.mit.edu	37	chr1	160187426	160187426	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gtcagggccctcctcctcgtCcgatgtgtctgaggagctgg	4	10	14	13	2	2	1	1	1	1	0	6	3	5	2	4	3	1	1	4	3	0	0			TCGA-HC-7817-01B-11D-A29Q-08	TCGA-HC-7817-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbec5e2a-4b00-4c72-ab57-6594b7901be0	c62fbae9-4356-4b26-8b3f-daf9c77e3a62	g.chr1:160187426C>T	ENST00000368073.3	-	14	2184	c.1750G>A	c.(1750-1752)Gac>Aac	p.D584N	DCAF8_ENST00000326837.2_Missense_Mutation_p.D584N|DCAF8_ENST00000556710.1_Missense_Mutation_p.D738N|DCAF8_ENST00000368074.1_Missense_Mutation_p.D584N|DCAF8_ENST00000608310.1_Missense_Mutation_p.D738N			Q5TAQ9	DCAF8_HUMAN	DDB1 and CUL4 associated factor 8	584					protein ubiquitination (GO:0016567)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(16)|skin(3)|upper_aerodigestive_tract(1)	33						TCCTCCTCGTCCGATGTGTCT	0.622																																						ENST00000368073.3																			0				cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(16)|skin(3)|upper_aerodigestive_tract(1)	33						c.(1750-1752)Gac>Aac		DDB1 and CUL4 associated factor 8							63	63	63					1																	160187426		2203	4300	6503	SO:0001583	missense	50717					CUL4 RING ubiquitin ligase complex	protein binding	g.chr1:160187426C>T	AK093176	CCDS1200.1	1q22-q23	2013-01-09	2009-07-17	2009-07-17	ENSG00000132716	ENSG00000132716		"WD repeat domain containing", "DDB1 and CUL4 associated factors"	24891	protein-coding gene	gene with protein product		615820	"WD repeat domain 42A"	WDR42A		11401431	Standard	NM_015726		Approved	H326, FLJ35857	uc010pjb.1	Q5TAQ9	OTTHUMG00000031604	ENST00000368073.3:c.1750G>A	1.37:g.160187426C>T	ENSP00000357052:p.Asp584Asn					DCAF8_ENST00000556710.1_Missense_Mutation_p.D738N|DCAF8_ENST00000326837.2_Missense_Mutation_p.D584N|DCAF8_ENST00000461888.1_5'UTR|DCAF8_ENST00000368074.1_Missense_Mutation_p.D584N	p.D584N			Q5TAQ9	DCAF8_HUMAN			14	2184	-			584					D3DVE6|Q12839|Q4QQI6|Q53F14|Q66K50|Q68CS7|Q96E00	Missense_Mutation	SNP	ENST00000368073.3	37	c.1750G>A	CCDS1200.1	.	.	.	.	.	.	.	.	.	.	C	20.5	3.992714	0.74703	.	.	ENSG00000132716;ENSG00000132716;ENSG00000132716;ENSG00000132716;ENSG00000132716;ENSG00000258465	ENST00000368073;ENST00000326837;ENST00000368074;ENST00000555195;ENST00000540855;ENST00000556710	T;T;T;T;T	0.69806	-0.43;-0.43;-0.43;-0.28;-0.28	5.23	5.23	0.72850	.	0.000000	0.64402	U	0.000013	T	0.64427	0.2597	N	0.25647	0.755	0.80722	D	1	D;D	0.67145	0.996;0.993	D;D	0.79784	0.993;0.977	T	0.59484	-0.7446	10	0.22109	T	0.4	-10.3811	17.7322	0.88380	0.0:1.0:0.0:0.0	.	738;584	G3V3G9;Q5TAQ9	.;DCAF8_HUMAN	N	584;584;584;738;565;738	ENSP00000357052:D584N;ENSP00000318227:D584N;ENSP00000357053:D584N;ENSP00000451989:D738N;ENSP00000451235:D738N	ENSP00000318227:D584N	D	-	1	0	RP11-574F21.3;DCAF8	158454050	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.712000	0.74681	2.721000	0.93114	0.655000	0.94253	GAC		0.622	DCAF8-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000077402.2	NM_015726		7	72	0	0	0	1	0	7	72					T	160187426	C	T	160187426	3	4	222	1	0	0	0	0	1	0	0	0	4276	855	30	3	47	3	DCAF8	1	160187426	Missense_Mutation	SNP	C	TCGA-HC-7817-01B-11D-A29Q-08	3740564	160187426	89063195	3	10241											
KLHL12	59349	broad.mit.edu	37	chr1	202861726	202861726	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tcccatggatgtcacgacttCccagctgtcgatgatagggt	8	11	11	11	2	1	1	1	1	0	0	4	4	3	2	2	2	1	1	2	2	1	2			TCGA-HC-7817-01B-11D-A29Q-08	TCGA-HC-7817-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbec5e2a-4b00-4c72-ab57-6594b7901be0	c62fbae9-4356-4b26-8b3f-daf9c77e3a62	g.chr1:202861726C>T	ENST00000367261.3	-	12	1860	c.1642G>A	c.(1642-1644)Gaa>Aaa	p.E548K	KLHL12_ENST00000435533.3_Missense_Mutation_p.E586K|KLHL12_ENST00000367259.1_3'UTR	NM_021633.2	NP_067646.1	Q53G59	KLH12_HUMAN	kelch-like family member 12	548	Interaction with DVL3.				COPII vesicle coating (GO:0048208)|ER to Golgi vesicle-mediated transport (GO:0006888)|protein monoubiquitination (GO:0006513)|Wnt signaling pathway (GO:0016055)	Cul3-RING ubiquitin ligase complex (GO:0031463)|ER to Golgi transport vesicle (GO:0030134)|Golgi membrane (GO:0000139)				NS(3)|breast(2)|endometrium(1)|large_intestine(1)|lung(6)|stomach(1)	14			BRCA - Breast invasive adenocarcinoma(75;0.166)			GTCACGACTTCCCAGCTGTCG	0.478																																						ENST00000367261.3																			0				NS(3)|breast(2)|endometrium(1)|large_intestine(1)|lung(6)|stomach(1)	14						c.(1642-1644)Gaa>Aaa		kelch-like family member 12							125	99	108					1																	202861726		2203	4300	6503	SO:0001583	missense	59349				Wnt receptor signaling pathway		protein binding	g.chr1:202861726C>T	AF190900	CCDS1429.1	1q32.1	2013-01-30	2013-01-30		ENSG00000117153	ENSG00000117153		"Kelch-like", "BTB/POZ domain containing"	19360	protein-coding gene	gene with protein product		614522	"kelch-like 12 (Drosophila)"			12477932	Standard	NM_021633		Approved	C3IP1	uc001gyo.1	Q53G59	OTTHUMG00000041385	ENST00000367261.3:c.1642G>A	1.37:g.202861726C>T	ENSP00000356230:p.Glu548Lys					KLHL12_ENST00000435533.3_Missense_Mutation_p.E586K|KLHL12_ENST00000367259.1_3'UTR	p.E548K	NM_021633.2	NP_067646.1	Q53G59	KLH12_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.166)		12	1860	-			548			Interaction with DVL3.		A6NEN8|B7Z7B8|Q9HBX5	Missense_Mutation	SNP	ENST00000367261.3	37	c.1642G>A	CCDS1429.1	.	.	.	.	.	.	.	.	.	.	C	15.08	2.728497	0.48833	.	.	ENSG00000117153	ENST00000367261;ENST00000435533	T;T	0.80393	-1.37;-1.37	5.04	5.04	0.67666	Galactose oxidase, beta-propeller (1);	0.228533	0.45867	D	0.000332	T	0.68723	0.3032	N	0.21448	0.665	0.80722	D	1	B;B	0.20052	0.041;0.016	B;B	0.23018	0.043;0.015	T	0.64433	-0.6409	10	0.05959	T	0.93	.	18.7603	0.91848	0.0:1.0:0.0:0.0	.	586;548	B7Z7B8;Q53G59	.;KLH12_HUMAN	K	548;586	ENSP00000356230:E548K;ENSP00000416886:E586K	ENSP00000356230:E548K	E	-	1	0	KLHL12	201128349	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.765000	0.85310	2.482000	0.83794	0.484000	0.47621	GAA		0.478	KLHL12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000099151.1	NM_021633		9	79	0	0	0	1	0	9	79					T	202861726	C	T	202861726	3	4	222	1	0	0	0	0	1	0	0	0	8368	864	30	3	68	3	KLHL12	1	202861726	Missense_Mutation	SNP	C	TCGA-HC-7817-01B-11D-A29Q-08	42674300	202861726	46388895	4	10242			1	23		2	2	31	C		3.294864e-05
KLHL12	59349	broad.mit.edu	37	chr1	202861756	202861756	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gatgatagggtcataacattCaatgctacttagcagggaat	14	11	10	6	0	2	1	2	1	0	0	2	3	2	2	0	2	4	2	0	2	6	5			TCGA-HC-7817-01B-11D-A29Q-08	TCGA-HC-7817-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbec5e2a-4b00-4c72-ab57-6594b7901be0	c62fbae9-4356-4b26-8b3f-daf9c77e3a62	g.chr1:202861756C>T	ENST00000367261.3	-	12	1830	c.1612G>A	c.(1612-1614)Gaa>Aaa	p.E538K	KLHL12_ENST00000435533.3_Missense_Mutation_p.E576K|KLHL12_ENST00000367259.1_3'UTR	NM_021633.2	NP_067646.1	Q53G59	KLH12_HUMAN	kelch-like family member 12	538	Interaction with DVL3.				COPII vesicle coating (GO:0048208)|ER to Golgi vesicle-mediated transport (GO:0006888)|protein monoubiquitination (GO:0006513)|Wnt signaling pathway (GO:0016055)	Cul3-RING ubiquitin ligase complex (GO:0031463)|ER to Golgi transport vesicle (GO:0030134)|Golgi membrane (GO:0000139)				NS(3)|breast(2)|endometrium(1)|large_intestine(1)|lung(6)|stomach(1)	14			BRCA - Breast invasive adenocarcinoma(75;0.166)			TCATAACATTCAATGCTACTT	0.483																																						ENST00000367261.3																			0				NS(3)|breast(2)|endometrium(1)|large_intestine(1)|lung(6)|stomach(1)	14						c.(1612-1614)Gaa>Aaa		kelch-like family member 12							112	89	96					1																	202861756		2203	4300	6503	SO:0001583	missense	59349				Wnt receptor signaling pathway		protein binding	g.chr1:202861756C>T	AF190900	CCDS1429.1	1q32.1	2013-01-30	2013-01-30		ENSG00000117153	ENSG00000117153		"Kelch-like", "BTB/POZ domain containing"	19360	protein-coding gene	gene with protein product		614522	"kelch-like 12 (Drosophila)"			12477932	Standard	NM_021633		Approved	C3IP1	uc001gyo.1	Q53G59	OTTHUMG00000041385	ENST00000367261.3:c.1612G>A	1.37:g.202861756C>T	ENSP00000356230:p.Glu538Lys					KLHL12_ENST00000435533.3_Missense_Mutation_p.E576K|KLHL12_ENST00000367259.1_3'UTR	p.E538K	NM_021633.2	NP_067646.1	Q53G59	KLH12_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.166)		12	1830	-			538			Interaction with DVL3.		A6NEN8|B7Z7B8|Q9HBX5	Missense_Mutation	SNP	ENST00000367261.3	37	c.1612G>A	CCDS1429.1	.	.	.	.	.	.	.	.	.	.	C	36	5.618068	0.96649	.	.	ENSG00000117153	ENST00000367261;ENST00000435533	D;D	0.84516	-1.86;-1.86	5.04	5.04	0.67666	Galactose oxidase, beta-propeller (1);	0.000000	0.85682	D	0.000000	D	0.95971	0.8688	H	0.98754	4.32	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.97110	1.0;0.997	D	0.97940	1.0325	10	0.87932	D	0	.	18.7603	0.91848	0.0:1.0:0.0:0.0	.	576;538	B7Z7B8;Q53G59	.;KLH12_HUMAN	K	538;576	ENSP00000356230:E538K;ENSP00000416886:E576K	ENSP00000356230:E538K	E	-	1	0	KLHL12	201128379	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	7.730000	0.84881	2.482000	0.83794	0.484000	0.47621	GAA		0.483	KLHL12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000099151.1	NM_021633		7	60	0	0	0	1	0	7	60					T	202861756	C	T	202861756	3	4	222	1	0	0	0	0	1	0	0	0	8368	835	29	3	98	3	KLHL12	1	202861756	Missense_Mutation	SNP	C	TCGA-HC-7817-01B-11D-A29Q-08	30	202861756	46388865	5	10243			1	23		2	2	31	C		3.294864e-05
TAF5L	27097	broad.mit.edu	37	chr1	229738251	229738251	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atgtcggggggctccaaaccGttgttctcactgcgggagga	7	9	15	10	3	1	0	1	0	1	0	4	2	2	2	2	5	2	3	2	5	1	2			TCGA-HC-7817-01B-11D-A29Q-08	TCGA-HC-7817-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbec5e2a-4b00-4c72-ab57-6594b7901be0	c62fbae9-4356-4b26-8b3f-daf9c77e3a62	g.chr1:229738251G>A	ENST00000366676.1	-	3	662	c.663C>T	c.(661-663)aaC>aaT	p.N221N	TAF5L_ENST00000258281.2_Silent_p.N221N|TAF5L_ENST00000366675.3_Silent_p.N221N			O75529	TAF5L_HUMAN	TAF5-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65kDa	221					chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|transcription from RNA polymerase II promoter (GO:0006366)	STAGA complex (GO:0030914)|transcription factor TFTC complex (GO:0033276)	sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|lung(4)|ovary(1)	11	Breast(184;0.193)|Ovarian(103;0.249)	Prostate(94;0.167)				GCTCCAAACCGTTGTTCTCAC	0.552																																						ENST00000366675.3																			0				breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|lung(4)|ovary(1)	11						c.(661-663)aaC>aaT		TAF5-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65kDa							82	84	83					1																	229738251		2203	4300	6503	SO:0001819	synonymous_variant	27097				histone H3 acetylation|transcription from RNA polymerase II promoter	STAGA complex|transcription factor TFTC complex	sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chr1:229738251G>A	AF069736	CCDS1581.1, CCDS31051.1	1q42.11-q42.3	2013-01-10	2002-08-29		ENSG00000135801	ENSG00000135801		"WD repeat domain containing"	17304	protein-coding gene	gene with protein product	"PCAF associated factor 65 beta"		"TAF5-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65 kD"			9674425, 11124703	Standard	XM_005273100		Approved	PAF65B	uc001htq.3	O75529	OTTHUMG00000039463	ENST00000366676.1:c.663C>T	1.37:g.229738251G>A						TAF5L_ENST00000366676.1_Silent_p.N221N|TAF5L_ENST00000258281.2_Silent_p.N221N	p.N221N	NM_001025247.1	NP_001020418.1	O75529	TAF5L_HUMAN			4	751	-	Breast(184;0.193)|Ovarian(103;0.249)	Prostate(94;0.167)	221					Q5TDI5|Q5TDI6|Q8IW31	Silent	SNP	ENST00000366676.1	37	c.663C>T	CCDS1581.1																																																																																				0.552	TAF5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095229.1	NM_014409		4	104	0	0	0	1	0	4	104					A	229738251	G	A	229738251	2	1	222	1	0	0	0	0	0	0	0	1	15526	1136	40	1		1	TAF5L	1	229738251	Silent	SNP	G	TCGA-HC-7817-01B-11D-A29Q-08	26876495	229738251	19512370	6	10244											
EHBP1	23301	broad.mit.edu	37	chr2	63101583	63101583	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgagtgaaaagaaaggccccGgctccaccagtcctctcacc	11	5	9	16	2	1	2	1	1	1	1	4	3	3	2	6	2	0	1	6	2	3	0	rs148159032		TCGA-HC-7817-01B-11D-A29Q-08	TCGA-HC-7817-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbec5e2a-4b00-4c72-ab57-6594b7901be0	c62fbae9-4356-4b26-8b3f-daf9c77e3a62	g.chr2:63101583G>A	ENST00000263991.5	+	11	1688	c.1206G>A	c.(1204-1206)ccG>ccA	p.P402P	EHBP1_ENST00000405015.3_Silent_p.P367P|EHBP1_ENST00000405289.1_Silent_p.P367P|EHBP1_ENST00000431489.1_Silent_p.P367P|EHBP1_ENST00000354487.3_Silent_p.P367P	NM_015252.3	NP_056067.2	Q8NDI1	EHBP1_HUMAN	EH domain binding protein 1	402						cytoplasm (GO:0005737)|membrane (GO:0016020)				biliary_tract(1)|breast(3)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(22)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	47	Lung NSC(7;0.0951)|all_lung(7;0.169)		LUSC - Lung squamous cell carcinoma(7;7.74e-05)|Epithelial(17;0.189)			GAAAGGCCCCGGCTCCACCAG	0.388																																						ENST00000263991.5																			0				biliary_tract(1)|breast(3)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(22)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	47						c.(1204-1206)ccG>ccA		EH domain binding protein 1		G	,,,	1,4405	2.1+/-5.4	0,1,2202	94	106	102		1101,1101,1101,1206	-8.1	0.9	2	dbSNP_134	102	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	EHBP1	NM_001142614.1,NM_001142615.2,NM_001142616.1,NM_015252.3	,,,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,,,	367/1197,367/1161,367/1161,402/1232	63101583	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	23301					cytoplasm|membrane		g.chr2:63101583G>A	AL833968	CCDS1872.1, CCDS46299.1, CCDS46300.1	2p15	2008-02-05			ENSG00000115504	ENSG00000115504			29144	protein-coding gene	gene with protein product		609922				10048485	Standard	NM_015252		Approved	KIAA0903, NACSIN	uc002sby.3	Q8NDI1	OTTHUMG00000129453	ENST00000263991.5:c.1206G>A	2.37:g.63101583G>A						EHBP1_ENST00000405289.1_Silent_p.P367P|EHBP1_ENST00000354487.3_Silent_p.P367P|EHBP1_ENST00000405015.3_Silent_p.P367P|EHBP1_ENST00000431489.1_Silent_p.P367P	p.P402P	NM_015252.3	NP_056067.2	Q8NDI1	EHBP1_HUMAN	LUSC - Lung squamous cell carcinoma(7;7.74e-05)|Epithelial(17;0.189)		11	1688	+	Lung NSC(7;0.0951)|all_lung(7;0.169)		402					O94977|Q53TG7|Q53TV6|Q580X2|Q6NX72|Q6PIT3|Q6QNV2|Q9NWI9	Silent	SNP	ENST00000263991.5	37	c.1206G>A	CCDS1872.1																																																																																				0.388	EHBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251616.1	NM_015252		19	121	0	0	0	1	0	19	121					A	63101583	G	A	63101583	2	1	222	1	0	0	0	0	0	0	0	1	4975	1103	39	2		2	EHBP1	2	63101583	Silent	SNP	G	TCGA-HC-7817-01B-11D-A29Q-08		63101583	180097790	7	10245											
BOD1L	259282	broad.mit.edu	37	chr4	13601210	13601210	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gcaaatggtcctatttcgggGcactccttgccatgcttctc	6	13	9	13	1	1	0	0	0	1	0	5	0	3	0	3	3	2	3	3	3	2	4			TCGA-HC-7817-01B-11D-A29Q-08	TCGA-HC-7817-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbec5e2a-4b00-4c72-ab57-6594b7901be0	c62fbae9-4356-4b26-8b3f-daf9c77e3a62	g.chr4:13601210G>A	ENST00000040738.5	-	10	7449	c.7314C>T	c.(7312-7314)tgC>tgT	p.C2438C		NM_148894.2	NP_683692.2	Q8NFC6	BD1L1_HUMAN	biorientation of chromosomes in cell division 1-like 1	2438						nucleus (GO:0005634)	DNA binding (GO:0003677)										CTATTTCGGGGCACTCCTTGC	0.498											OREG0016115	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000040738.5																			0											c.(7312-7314)tgC>tgT		biorientation of chromosomes in cell division 1-like 1							169	153	159					4																	13601210		2203	4300	6503	SO:0001819	synonymous_variant	259282						DNA binding	g.chr4:13601210G>A	AF528529	CCDS3411.2	4p16.1	2012-04-10	2012-04-10	2012-04-10	ENSG00000038219	ENSG00000038219			31792	protein-coding gene	gene with protein product			"family with sequence similarity 44, member A", "biorientation of chromosomes in cell division 1-like"	FAM44A, BOD1L			Standard	XM_005248150		Approved	FLJ33215, KIAA1327	uc003gmz.1	Q8NFC6	OTTHUMG00000090659	ENST00000040738.5:c.7314C>T	4.37:g.13601210G>A			OREG0016115	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	688		p.C2438C	NM_148894.2	NP_683692.2	Q8NFC6	BOD1L_HUMAN			10	7449	-			2438					Q6P0M8|Q96AL1|Q9H6G0|Q9NTD6|Q9P2L9	Silent	SNP	ENST00000040738.5	37	c.7314C>T	CCDS3411.2																																																																																				0.498	BOD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207321.1	NM_148894		4	164	0	0	0	1	0	4	164					A	13601210	G	A	13601210	2	1	222	1	0	0	0	0	0	0	0	1	1483	1195	42	3		3	BOD1L	4	13601210	Silent	SNP	G	TCGA-HC-7817-01B-11D-A29Q-08		13601210	177553066	8	10246											
GPR98	84059	broad.mit.edu	37	chr5	90083965	90083965	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gacattgcagacccagtgagCgggttgttctattttggaga	9	12	13	7	1	1	3	0	1	1	2	1	5	1	3	1	2	2	3	1	2	1	6	rs376686611		TCGA-HC-7817-01B-11D-A29Q-08	TCGA-HC-7817-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbec5e2a-4b00-4c72-ab57-6594b7901be0	c62fbae9-4356-4b26-8b3f-daf9c77e3a62	g.chr5:90083965C>T	ENST00000405460.2	+	68	13827	c.13731C>T	c.(13729-13731)agC>agT	p.S4577S	GPR98_ENST00000425867.2_Silent_p.S238S	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	4577	Calx-beta 31. {ECO:0000305|PubMed:11606593}.				detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		ACCCAGTGAGCGGGTTGTTCT	0.433																																						ENST00000405460.2																			0				NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269						c.(13729-13731)agC>agT		G protein-coupled receptor 98		C		3,3711		0,3,1854	75	72	73		13731	-7.1	0	5		73	0,8194		0,0,4097	no	coding-synonymous	GPR98	NM_032119.3		0,3,5951	TT,TC,CC		0.0,0.0808,0.0252		4577/6307	90083965	3,11905	1857	4097	5954	SO:0001819	synonymous_variant	84059				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr5:90083965C>T	AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"-", "GPCR / Class B : Orphans"	17416	protein-coding gene	gene with protein product		602851	"monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.13731C>T	5.37:g.90083965C>T						GPR98_ENST00000425867.2_Silent_p.S238S	p.S4577S	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)	68	13827	+		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)	4577			Calx-beta 31.		O75171|Q8TF58|Q9H0X5|Q9UL61	Silent	SNP	ENST00000405460.2	37	c.13731C>T	CCDS47246.1																																																																																				0.433	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2	NM_032119		4	61	0	0	0	1	0	4	61					T	90083965	C	T	90083965	2	4	222	1	0	0	0	0	0	0	0	1	6721	767	27	1		1	GPR98	5	90083965	Silent	SNP	C	TCGA-HC-7817-01B-11D-A29Q-08		90083965	90831295	9	10247											
MCC	4163	broad.mit.edu	37	chr5	112824048	112824048	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgctgctgctgctgccgcTgccgccgccgccgccgccgc	0	6	14	21	7	0	0	0	0	0	0	0	0	0	0	7	0	6	6	7	0	0	0	rs35336557|rs531679771	byFrequency	TCGA-HC-7817-01B-11D-A29Q-08	TCGA-HC-7817-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbec5e2a-4b00-4c72-ab57-6594b7901be0	c62fbae9-4356-4b26-8b3f-daf9c77e3a62	g.chr5:112824048T>C	ENST00000408903.3	-	1	479	c.64A>G	c.(64-66)Agc>Ggc	p.S22G		NM_001085377.1	NP_001078846	P23508	CRCM_HUMAN	mutated in colorectal cancers	0					negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of epithelial cell proliferation (GO:0050680)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			endometrium(4)|kidney(3)|large_intestine(15)|liver(2)|lung(8)|ovary(2)|pancreas(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42		all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198)		OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766)		ctgctgccgctgccgccgccg	0.736																																						ENST00000408903.3																			0				endometrium(4)|kidney(3)|large_intestine(15)|liver(2)|lung(8)|ovary(2)|pancreas(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						c.(64-66)Agc>Ggc		mutated in colorectal cancers							5	8	7					5																	112824048		934	2445	3379	SO:0001583	missense	4163				negative regulation of canonical Wnt receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|Wnt receptor signaling pathway	cytoplasm|nucleus|plasma membrane	protein binding|receptor activity	g.chr5:112824048T>C		CCDS4111.1, CCDS43351.1	5q21-q22	2013-01-10			ENSG00000171444	ENSG00000171444		"EF-hand domain containing"	6935	protein-coding gene	gene with protein product		159350				1848370	Standard	NM_002387		Approved		uc003kql.4	P23508	OTTHUMG00000128804	ENST00000408903.3:c.64A>G	5.37:g.112824048T>C	ENSP00000386227:p.Ser22Gly						p.S22G	NM_001085377.1	NP_001078846.1	P23508	CRCM_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766)	1	479	-		all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198)	550					D3DT05|Q6ZR04	Missense_Mutation	SNP	ENST00000408903.3	37	c.64A>G	CCDS43351.1	.	.	.	.	.	.	.	.	.	.	C	9.510	1.105603	0.20632	.	.	ENSG00000171444	ENST00000408903	T	0.36340	1.26	2.11	1.19	0.21007	.	.	.	.	.	T	0.22936	0.0554	.	.	.	0.09310	N	0.999996	B	0.02656	0.0	B	0.01281	0.0	T	0.21724	-1.0237	8	0.52906	T	0.07	.	4.0033	0.09590	0.0:0.5998:0.0:0.4002	.	22	P23508-2	.	G	22	ENSP00000386227:S22G	ENSP00000386227:S22G	S	-	1	0	MCC	112851947	0.005000	0.15991	0.030000	0.17652	0.016000	0.09150	-0.087000	0.11215	0.225000	0.20959	-1.896000	0.00531	AGC		0.736	MCC-003	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370839.1	NM_001085377		4	29	0	0	0	1	0	4	29					C	112824048	T	C	112824048	3	2	222	1	0	0	0	0	1	0	0	0	9373	1580	55	4	3132	4	MCC	5	112824048	Missense_Mutation	SNP	T	TCGA-HC-7817-01B-11D-A29Q-08	22740083	112824048	68091212	10	10248											
RSPH9	221421	broad.mit.edu	37	chr6	43623376	43623376	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggccatcatcccccgaggCgccctcttcaagaccccttt	6	9	8	18	2	3	1	2	0	1	1	4	2	4	1	6	2	0	0	6	2	1	2			TCGA-HC-7817-01B-11D-A29Q-08	TCGA-HC-7817-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbec5e2a-4b00-4c72-ab57-6594b7901be0	c62fbae9-4356-4b26-8b3f-daf9c77e3a62	g.chr6:43623376C>T	ENST00000372163.4	+	3	524	c.471C>T	c.(469-471)ggC>ggT	p.G157G	RSPH9_ENST00000372165.4_Silent_p.G142G	NM_152732.4	NP_689945.2	Q9H1X1	RSPH9_HUMAN	radial spoke head 9 homolog (Chlamydomonas)	157					axoneme assembly (GO:0035082)|cilium movement (GO:0003341)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|motile cilium (GO:0031514)		p.G157G(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						TCCCCCGAGGCGCCCTCTTCA	0.572									Kartagener syndrome																													ENST00000372165.4																			1	Substitution - coding silent(1)	p.G157G(1)	large_intestine(1)	NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						c.(424-426)ggC>ggT		radial spoke head 9 homolog (Chlamydomonas)							142	144	143					6																	43623376		2203	4300	6503	SO:0001819	synonymous_variant	221421	Kartagener syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	cilium axoneme assembly|cilium movement	cytoplasm|cytoskeleton		g.chr6:43623376C>T	AK055407	CCDS4905.1, CCDS55005.1	6p21.1	2012-05-03	2009-02-17	2009-02-17	ENSG00000172426	ENSG00000172426			21057	protein-coding gene	gene with protein product		612648	"mitochondrial ribosomal protein S18A-like 1", "chromosome 6 open reading frame 206"	MRPS18AL1, C6orf206		19200523	Standard	NM_152732		Approved	FLJ30845, CILD12	uc003ovx.2	Q9H1X1	OTTHUMG00000014746	ENST00000372163.4:c.471C>T	6.37:g.43623376C>T						RSPH9_ENST00000372163.4_Silent_p.G157G	p.G142G	NM_001193341.1	NP_001180270.1	Q9H1X1	RSPH9_HUMAN			3	479	+			157					A8K5T4|Q96NH9	Silent	SNP	ENST00000372163.4	37	c.426C>T	CCDS4905.1	.	.	.	.	.	.	.	.	.	.	C	9.689	1.151384	0.21371	.	.	ENSG00000172426	ENST00000417236	.	.	.	5.68	-11.4	0.00090	.	.	.	.	.	T	0.18882	0.0453	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.45920	-0.9228	4	.	.	.	-8.401	4.5425	0.12066	0.3523:0.4283:0.0846:0.1349	.	.	.	.	C	82	.	.	R	+	1	0	RSPH9	43731354	0.000000	0.05858	0.671000	0.29857	0.975000	0.68041	-3.794000	0.00364	-1.699000	0.01416	-0.469000	0.05056	CGC		0.572	RSPH9-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040690.1	NM_152732		36	253	0	0	0	1	0	36	253					T	43623376	C	T	43623376	2	4	222	1	0	0	0	0	0	0	0	1	13708	755	27	1		1	RSPH9	6	43623376	Silent	SNP	C	TCGA-HC-7817-01B-11D-A29Q-08		43623376	127491691	11	10249											
MLL3	58508	broad.mit.edu	37	chr7	151878166	151878166	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttaccaacgggccaggtaaaGctggtcctcggttttgtgct	7	12	12	10	2	0	0	0	0	0	0	2	0	1	0	3	4	4	4	3	4	4	4			TCGA-HC-7817-01B-11D-A29Q-08	TCGA-HC-7817-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbec5e2a-4b00-4c72-ab57-6594b7901be0	c62fbae9-4356-4b26-8b3f-daf9c77e3a62	g.chr7:151878166G>C	ENST00000262189.6	-	36	6997	c.6779C>G	c.(6778-6780)gCt>gGt	p.A2260G	KMT2C_ENST00000355193.2_Missense_Mutation_p.A2260G	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	2260	Pro-rich.				histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										GCCAGGTAAAGCTGGTCCTCG	0.517																																						ENST00000355193.2																			0											c.(6778-6780)gCt>gGt		lysine (K)-specific methyltransferase 2C							97	101	100					7																	151878166		2203	4300	6503	SO:0001583	missense	58508							g.chr7:151878166G>C	AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	13726	protein-coding gene	gene with protein product		606833	"myeloid/lymphoid or mixed-lineage leukemia 3"	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.6779C>G	7.37:g.151878166G>C	ENSP00000262189:p.Ala2260Gly					KMT2C_ENST00000262189.6_Missense_Mutation_p.A2260G	p.A2260G							36	6997	-								Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Missense_Mutation	SNP	ENST00000262189.6	37	c.6779C>G	CCDS5931.1	.	.	.	.	.	.	.	.	.	.	G	7.115	0.576811	0.13686	.	.	ENSG00000055609	ENST00000262189;ENST00000355193	D;D	0.83755	-1.76;-1.76	5.02	2.0	0.26442	.	0.391782	0.18043	N	0.153536	T	0.67496	0.2899	N	0.17474	0.49	0.09310	N	0.999992	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.48658	-0.9016	10	0.17832	T	0.49	.	10.8184	0.46591	0.0803:0.4556:0.4641:0.0	.	2260;1321	Q8NEZ4;Q8NEZ4-2	MLL3_HUMAN;.	G	2260	ENSP00000262189:A2260G;ENSP00000347325:A2260G	ENSP00000262189:A2260G	A	-	2	0	MLL3	151509099	0.627000	0.27129	0.222000	0.23844	0.992000	0.81027	2.085000	0.41634	0.167000	0.19631	0.561000	0.74099	GCT		0.517	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3			19	81	0	0	0	1	0	19	81					C	151878166	G	C	151878166	3	2	222	1	0	0	0	0	1	0	0	0	9622	971	34	5	8052	5	MLL3	7	151878166	Missense_Mutation	SNP	G	TCGA-HC-7817-01B-11D-A29Q-08		151878166	7260497	12	10250											
PNMA2	10687	broad.mit.edu	37	chr8	26366213	26366213	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtatccccgtaaccatcagtGacttctgctcatccacactc	9	11	5	16	1	3	1	2	1	1	0	6	1	5	1	4	0	2	3	4	0	2	3			TCGA-HC-7817-01B-11D-A29Q-08	TCGA-HC-7817-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbec5e2a-4b00-4c72-ab57-6594b7901be0	c62fbae9-4356-4b26-8b3f-daf9c77e3a62	g.chr8:26366213G>T	ENST00000522362.2	-	3	953	c.59C>A	c.(58-60)tCa>tAa	p.S20*	PNMA2_ENST00000522764.1_5'Flank	NM_007257.5	NP_009188.1	Q9UL42	PNMA2_HUMAN	paraneoplastic Ma antigen 2	20					positive regulation of apoptotic process (GO:0043065)	nucleus (GO:0005634)				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)	11		all_cancers(63;0.109)|Ovarian(32;2.61e-05)|all_epithelial(46;0.105)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0196)|Epithelial(17;3.13e-11)|Colorectal(74;0.123)		aaccatcagtgacttctgctc	0.512																																						ENST00000522362.2																			0				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)	11						c.(58-60)tCa>tAa		paraneoplastic Ma antigen 2							185	169	174					8																	26366213		2203	4300	6503	SO:0001587	stop_gained	10687				apoptosis	nucleolus	protein binding	g.chr8:26366213G>T		CCDS34868.1	8p21.1	2012-02-09	2012-02-09		ENSG00000240694	ENSG00000240694		"Paraneoplastic Ma antigens"	9159	protein-coding gene	gene with protein product		603970	"paraneoplastic antigen MA2"			10362822	Standard	NM_007257		Approved	MA2, RGAG2	uc003xez.2	Q9UL42	OTTHUMG00000163816	ENST00000522362.2:c.59C>A	8.37:g.26366213G>T	ENSP00000429344:p.Ser20*						p.S20*	NM_007257.5	NP_009188.1	Q9UL42	PNMA2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0196)|Epithelial(17;3.13e-11)|Colorectal(74;0.123)	3	953	-		all_cancers(63;0.109)|Ovarian(32;2.61e-05)|all_epithelial(46;0.105)	20					B3KNY9|O94959|O95145|Q49A18|Q9UL43	Nonsense_Mutation	SNP	ENST00000522362.2	37	c.59C>A	CCDS34868.1	.	.	.	.	.	.	.	.	.	.	G	42	9.400844	0.99159	.	.	ENSG00000240694	ENST00000522362	.	.	.	3.74	3.74	0.42951	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-9.7906	11.3404	0.49529	0.0:0.0:1.0:0.0	.	.	.	.	X	20	.	ENSP00000429344:S20X	S	-	2	0	PNMA2	26422130	0.821000	0.29204	0.810000	0.32431	0.901000	0.52897	3.689000	0.54706	2.381000	0.81170	0.655000	0.94253	TCA		0.512	PNMA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375709.2	NM_007257		32	179	1	0	3.99451e-17	1	4.21239e-17	32	179					T	26366213	G	T	26366213	4	4	222	1	0	0	0	0	0	1	0	0	12154	1294	45	5	1039	5	PNMA2	8	26366213	Nonsense_Mutation	SNP	G	TCGA-HC-7817-01B-11D-A29Q-08		26366213	119997809	13	10251											
ATP6V1H	51606	broad.mit.edu	37	chr8	54754237	54754238	+	Frame_Shift_Ins	INS	-	-	C																															atccacagcacctcggatatINSccattttggtcatctaaact																								rs370531478		TCGA-HC-7817-01B-11D-A29Q-08	TCGA-HC-7817-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbec5e2a-4b00-4c72-ab57-6594b7901be0	c62fbae9-4356-4b26-8b3f-daf9c77e3a62	g.chr8:54754237_54754238insC	ENST00000359530.2	-	2	276_277	c.13_14insG	c.(13-15)gatfs	p.D5fs	ATP6V1H_ENST00000396774.2_Frame_Shift_Ins_p.D5fs|ATP6V1H_ENST00000520188.1_5'Flank|ATP6V1H_ENST00000355221.3_Frame_Shift_Ins_p.D5fs	NM_015941.3	NP_057025.2	Q9UI12	VATH_HUMAN	ATPase, H+ transporting, lysosomal 50/57kDa, V1 subunit H	5					ATP catabolic process (GO:0006200)|ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|endocytosis (GO:0006897)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|regulation of catalytic activity (GO:0050790)|regulation of defense response to virus by virus (GO:0050690)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)|vacuolar acidification (GO:0007035)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)|vacuolar proton-transporting V-type ATPase, V1 domain (GO:0000221)	enzyme regulator activity (GO:0030234)|proton-transporting ATPase activity, rotational mechanism (GO:0046961)			endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|urinary_tract(1)	18		all_epithelial(80;0.0487)|Lung NSC(129;0.109)|all_lung(136;0.181)	OV - Ovarian serous cystadenocarcinoma(7;2.79e-06)|Epithelial(17;0.000629)|all cancers(17;0.00359)			ACCTCGGATATCCATTTTGGTC	0.396																																						ENST00000355221.3																			0				endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|urinary_tract(1)	18						c.(13-15)tatfs		ATPase, H+ transporting, lysosomal 50/57kDa, V1 subunit H																																				SO:0001589	frameshift_variant	51606				ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|endocytosis|insulin receptor signaling pathway|interspecies interaction between organisms|regulation of defense response to virus by virus|transferrin transport|vacuolar acidification|viral reproduction	cytosol|plasma membrane|vacuolar proton-transporting V-type ATPase, V1 domain	enzyme regulator activity|protein binding|proton-transporting ATPase activity, rotational mechanism	g.chr8:54754237_54754238insC	AF132945	CCDS6153.1, CCDS6154.1	8q11.2	2011-05-24	2002-08-29		ENSG00000047249	ENSG00000047249		"ATPases / V-type"	18303	protein-coding gene	gene with protein product	"vacuolar ATP synthase subunit H"	608861	"ATPase, H+ transporting, lysosomal 50/57kD, V1 subunit H"			9620685, 10810093	Standard	NM_015941		Approved	CGI-11, SFD, VMA13, SFDalpha, SFDbeta	uc003xrm.4	Q9UI12	OTTHUMG00000164231	ENST00000359530.2:c.14dupG	8.37:g.54754239_54754239dupC	ENSP00000352522:p.Asp5fs					ATP6V1H_ENST00000359530.2_Frame_Shift_Ins_p.Y5fs|ATP6V1H_ENST00000396774.2_Frame_Shift_Ins_p.Y5fs	p.Y5fs	NM_213619.2	NP_998784.1	Q9UI12	VATH_HUMAN	OV - Ovarian serous cystadenocarcinoma(7;2.79e-06)|Epithelial(17;0.000629)|all cancers(17;0.00359)		2	572_573	-		all_epithelial(80;0.0487)|Lung NSC(129;0.109)|all_lung(136;0.181)	5					B3KMR0|Q6PK44|Q9H3E3|Q9Y300	Frame_Shift_Ins	INS	ENST00000359530.2	37	c.13_14insG	CCDS6153.1																																																																																				0.396	ATP6V1H-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377865.1	NM_015941		15	134						15	134	---	---	---	---	C	54754238	-	C	54754237	7	5	222	1	0	1	1	0	0	0	0	0	1189	1435	50	0	1489	0	ATP6V1H	8	54754237	Frame_Shift_Ins	INS	-	TCGA-HC-7817-01B-11D-A29Q-08	28388024	54754237	91609785	14	10252											
XKR4	114786	broad.mit.edu	37	chr8	56015725	56015725	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcaagagcaacatcgccgCggccaacagcggcagcaaca	14	1	11	15	4	0	1	0	0	0	1	1	1	0	1	2	2	7	4	2	2	4	0			TCGA-HC-7817-01B-11D-A29Q-08	TCGA-HC-7817-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbec5e2a-4b00-4c72-ab57-6594b7901be0	c62fbae9-4356-4b26-8b3f-daf9c77e3a62	g.chr8:56015725C>T	ENST00000327381.6	+	1	777	c.677C>T	c.(676-678)gCg>gTg	p.A226V		NM_052898.1	NP_443130.1	Q5GH76	XKR4_HUMAN	XK, Kell blood group complex subunit-related family, member 4	226						integral component of membrane (GO:0016021)				NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34			Epithelial(17;0.000117)|all cancers(17;0.000836)			AACATCGCCGCGGCCAACAGC	0.652																																						ENST00000327381.5																			0				NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34						c.(676-678)gCg>gTg		XK, Kell blood group complex subunit-related family, member 4							39	41	41					8																	56015725		2202	4298	6500	SO:0001583	missense	114786					integral to membrane		g.chr8:56015725C>T	AY534241	CCDS34893.1	8q12.1	2006-01-12	2006-01-12		ENSG00000206579	ENSG00000206579			29394	protein-coding gene	gene with protein product			"X Kell blood group precursor-related family, member 4"				Standard	NM_052898		Approved	KIAA1889	uc003xsf.3	Q5GH76	OTTHUMG00000164288	ENST00000327381.6:c.677C>T	8.37:g.56015725C>T	ENSP00000328326:p.Ala226Val						p.A226V	NM_052898.1	NP_443130.1	Q5GH76	XKR4_HUMAN	Epithelial(17;0.000117)|all cancers(17;0.000836)		1	777	+			226					Q96PZ8	Missense_Mutation	SNP	ENST00000327381.6	37	c.677C>T	CCDS34893.1	.	.	.	.	.	.	.	.	.	.	C	14.41	2.527749	0.44969	.	.	ENSG00000206579	ENST00000327381;ENST00000543752	D	0.83673	-1.75	4.91	4.91	0.64330	.	0.793328	0.11395	N	0.568386	T	0.64594	0.2612	N	0.08118	0	0.23082	N	0.998328	P	0.43750	0.816	B	0.35655	0.207	T	0.54207	-0.8328	10	0.30854	T	0.27	-8.609	9.9568	0.41671	0.2132:0.6574:0.1295:0.0	.	226	Q5GH76	XKR4_HUMAN	V	226	ENSP00000328326:A226V	ENSP00000328326:A226V	A	+	2	0	XKR4	56178279	0.990000	0.36364	0.117000	0.21633	0.927000	0.56198	1.929000	0.40114	2.551000	0.86045	0.555000	0.69702	GCG		0.652	XKR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378129.2	NM_052898		4	85	0	0	0	1	0	4	85					T	56015725	C	T	56015725	3	4	222	1	0	0	0	0	1	0	0	0	17430	768	27	1	679	1	XKR4	8	56015725	Missense_Mutation	SNP	C	TCGA-HC-7817-01B-11D-A29Q-08	1261488	56015725	90348297	15	10253											
DAPK1	1612	broad.mit.edu	37	chr9	90321394	90321394	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cgcatcgtgcccgtggaacaCctcacccccttcccatgtgg	6	8	9	18	3	1	0	1	0	0	0	3	1	2	1	5	2	2	1	5	2	1	1			TCGA-HC-7817-01B-11D-A29Q-08	TCGA-HC-7817-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbec5e2a-4b00-4c72-ab57-6594b7901be0	c62fbae9-4356-4b26-8b3f-daf9c77e3a62	g.chr9:90321394C>G	ENST00000408954.3	+	26	3743	c.3408C>G	c.(3406-3408)caC>caG	p.H1136Q	DAPK1_ENST00000358077.5_Missense_Mutation_p.H1136Q|DAPK1_ENST00000472284.1_Missense_Mutation_p.H1136Q|DAPK1_ENST00000469640.2_Missense_Mutation_p.H1161Q|DAPK1_ENST00000491893.1_Missense_Mutation_p.H1070Q	NM_004938.2	NP_004929.2	P53355	DAPK1_HUMAN	death-associated protein kinase 1	1136					apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cellular response to interferon-gamma (GO:0071346)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|intracellular signal transduction (GO:0035556)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of translation (GO:0017148)|positive regulation of apoptotic process (GO:0043065)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of apoptotic process (GO:0042981)|regulation of autophagy (GO:0010506)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|calmodulin-dependent protein kinase activity (GO:0004683)|identical protein binding (GO:0042802)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(27)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(3)|stomach(1)	72						CCGTGGAACACCTCACCCCCT	0.612									Chronic Lymphocytic Leukemia, Familial Clustering of																													ENST00000469640.2																			0				breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(27)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(3)|stomach(1)	72						c.(3481-3483)caC>caG		death-associated protein kinase 1							97	109	105					9																	90321394		2199	4280	6479	SO:0001583	missense	1612	Chronic Lymphocytic Leukemia, Familial Clustering of	Familial Cancer Database	Familial CLL	apoptosis|induction of apoptosis by extracellular signals|intracellular protein kinase cascade	actin cytoskeleton|cytoplasm	ATP binding|calmodulin binding|protein serine/threonine kinase activity	g.chr9:90321394C>G	X76104	CCDS43842.1	9q34.1	2013-01-10			ENSG00000196730	ENSG00000196730		"Ankyrin repeat domain containing"	2674	protein-coding gene	gene with protein product		600831				8530096	Standard	XM_005251757		Approved	DAPK	uc004apd.3	P53355	OTTHUMG00000020150	ENST00000408954.3:c.3408C>G	9.37:g.90321394C>G	ENSP00000386135:p.His1136Gln					DAPK1_ENST00000472284.1_Missense_Mutation_p.H1136Q|DAPK1_ENST00000408954.3_Missense_Mutation_p.H1136Q|DAPK1_ENST00000358077.5_Missense_Mutation_p.H1136Q|DAPK1_ENST00000491893.1_Missense_Mutation_p.H1070Q	p.H1161Q			P53355	DAPK1_HUMAN			27	3858	+			1136					B7ZLD2|B7ZLE7|Q14CQ7|Q1W5W0|Q68CP8|Q6ZRZ3|Q9BTL8	Missense_Mutation	SNP	ENST00000408954.3	37	c.3483C>G	CCDS43842.1	.	.	.	.	.	.	.	.	.	.	C	13.84	2.358422	0.41801	.	.	ENSG00000196730	ENST00000358077;ENST00000472284;ENST00000469640;ENST00000408954;ENST00000491893	T;T;T;T;T	0.65916	-0.16;-0.16;-0.18;-0.16;-0.18	5.73	2.94	0.34122	.	0.105337	0.39544	N	0.001340	T	0.63319	0.2501	L	0.46157	1.445	0.58432	D	0.999998	P;D;P	0.58268	0.622;0.982;0.622	B;P;B	0.56612	0.282;0.802;0.282	T	0.56232	-0.8013	10	0.19590	T	0.45	.	10.2782	0.43523	0.0:0.7238:0.0:0.2762	.	1070;1136;1136	B7ZLE7;P53355-3;P53355	.;.;DAPK1_HUMAN	Q	1136;1136;1161;1136;1070	ENSP00000350785:H1136Q;ENSP00000417076:H1136Q;ENSP00000418885:H1161Q;ENSP00000386135:H1136Q;ENSP00000419026:H1070Q	ENSP00000350785:H1136Q	H	+	3	2	DAPK1	89511214	1.000000	0.71417	1.000000	0.80357	0.704000	0.40688	2.522000	0.45572	0.367000	0.24454	-0.254000	0.11334	CAC		0.612	DAPK1-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356843.1	NM_004938		3	47	0	0	0	1	0	3	47					G	90321394	C	G	90321394	3	3	222	1	0	0	0	0	1	0	0	0	4235	506	18	5	3506	5	DAPK1	9	90321394	Missense_Mutation	SNP	C	TCGA-HC-7817-01B-11D-A29Q-08		90321394	50892037	16	10254											
LMX1B	4010	broad.mit.edu	37	chr9	129458133	129458133	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cccagaggtcctgtccagccGcatggagggcatgatggctt	7	8	14	12	1	0	2	0	1	0	1	2	3	2	3	4	4	1	3	4	4	0	1			TCGA-HC-7817-01B-11D-A29Q-08	TCGA-HC-7817-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbec5e2a-4b00-4c72-ab57-6594b7901be0	c62fbae9-4356-4b26-8b3f-daf9c77e3a62	g.chr9:129458133G>A	ENST00000373474.4	+	7	909	c.902G>A	c.(901-903)cGc>cAc	p.R301H	LMX1B_ENST00000425646.2_Missense_Mutation_p.R278H|LMX1B_ENST00000561065.1_Missense_Mutation_p.R289H|LMX1B_ENST00000526117.1_Missense_Mutation_p.R301H|LMX1B_ENST00000355497.5_Missense_Mutation_p.R312H			O60663	LMX1B_HUMAN	LIM homeobox transcription factor 1, beta	301					cell proliferation (GO:0008283)|central nervous system neuron development (GO:0021954)|cerebellum morphogenesis (GO:0021587)|collagen fibril organization (GO:0030199)|dopaminergic neuron differentiation (GO:0071542)|dorsal/ventral pattern formation (GO:0009953)|in utero embryonic development (GO:0001701)|limb morphogenesis (GO:0035108)|midbrain development (GO:0030901)|multicellular organismal development (GO:0007275)|neuron differentiation (GO:0030182)|neuron migration (GO:0001764)|organ growth (GO:0035265)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|trabecular meshwork development (GO:0002930)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	15						CTGTCCAGCCGCATGGAGGGC	0.662									Nail-Patella Syndrome																												Pancreas(110;1796 2278 18357 20466)	ENST00000355497.5																			0				endometrium(1)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	15						c.(934-936)cGc>cAc		LIM homeobox transcription factor 1, beta							60	49	52					9																	129458133		2203	4299	6502	SO:0001583	missense	4010	Nail-Patella Syndrome	Familial Cancer Database	Osteo-Onychodysplasia, Turner-Kieser syndrome, Fong disease	dorsal/ventral pattern formation|in utero embryonic development	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr9:129458133G>A	U77457	CCDS6866.1, CCDS6866.2, CCDS55342.1, CCDS55343.1	9q33.3	2011-06-20			ENSG00000136944	ENSG00000136944		"Homeoboxes / LIM class"	6654	protein-coding gene	gene with protein product		602575		NPS1		9441763, 9590287	Standard	NM_002316		Approved		uc004bqj.3	O60663	OTTHUMG00000020692	ENST00000373474.4:c.902G>A	9.37:g.129458133G>A	ENSP00000362573:p.Arg301His					LMX1B_ENST00000561065.1_Missense_Mutation_p.R289H|LMX1B_ENST00000425646.2_Missense_Mutation_p.R278H|LMX1B_ENST00000373474.4_Missense_Mutation_p.R301H|LMX1B_ENST00000526117.1_Missense_Mutation_p.R301H	p.R312H	NM_001174146.1	NP_001167617.1	O60663	LMX1B_HUMAN			7	942	+			278					F8W7W6|O75463|Q5JU95|Q6ISC9	Missense_Mutation	SNP	ENST00000373474.4	37	c.935G>A	CCDS55342.1	.	.	.	.	.	.	.	.	.	.	G	16.39	3.109968	0.56398	.	.	ENSG00000136944	ENST00000526117;ENST00000373474;ENST00000355497;ENST00000425646	T;T;T;T	0.77098	-1.07;-1.07;-1.07;-1.07	4.75	4.75	0.60458	.	0.000000	0.85682	D	0.000000	T	0.80819	0.4696	L	0.51422	1.61	0.80722	D	1	D;D;D	0.67145	0.989;0.989;0.996	P;P;P	0.57101	0.54;0.655;0.813	T	0.76924	-0.2779	10	0.15952	T	0.53	.	16.73	0.85432	0.0:0.0:1.0:0.0	.	289;278;301	B7ZLH2;O60663;F8VYP0	.;LMX1B_HUMAN;.	H	301;301;312;278	ENSP00000436930:R301H;ENSP00000362573:R301H;ENSP00000347684:R312H;ENSP00000390923:R278H	ENSP00000347684:R312H	R	+	2	0	LMX1B	128497954	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.107000	0.94261	2.195000	0.70347	0.561000	0.74099	CGC		0.662	LMX1B-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054123.2			9	75	0	0	0	1	0	9	75					A	129458133	G	A	129458133	3	1	222	1	0	0	0	0	1	0	0	0	8862	1087	38	1	961	1	LMX1B	9	129458133	Missense_Mutation	SNP	G	TCGA-HC-7817-01B-11D-A29Q-08	39136739	129458133	11755298	17	10255											
HRAS	3265	broad.mit.edu	37	chr11	533309	533309	+	Intron	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgctgggtcacatgggtcccGgggggtcccagagggtcccg	4	6	18	13	3	1	1	1	0	0	1	4	1	4	1	3	6	0	1	3	6	0	0			TCGA-HC-7817-01B-11D-A29Q-08	TCGA-HC-7817-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbec5e2a-4b00-4c72-ab57-6594b7901be0	c62fbae9-4356-4b26-8b3f-daf9c77e3a62	g.chr11:533309G>A	ENST00000451590.1	-	4	638				HRAS_ENST00000417302.1_Missense_Mutation_p.P167L|HRAS_ENST00000397594.1_Missense_Mutation_p.P167L|HRAS_ENST00000468682.2_5'Flank|HRAS_ENST00000311189.7_Intron|HRAS_ENST00000397596.2_Intron	NM_001130442.1|NM_005343.2	NP_001123914.1|NP_005334.1	P01112	RASH_HUMAN	Harvey rat sarcoma viral oncogene homolog						actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular senescence (GO:0090398)|chemotaxis (GO:0006935)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|intrinsic apoptotic signaling pathway (GO:0097193)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|mitotic cell cycle checkpoint (GO:0007093)|negative regulation of cell differentiation (GO:0045596)|negative regulation of cell proliferation (GO:0008285)|negative regulation of gene expression (GO:0010629)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of Rho GTPase activity (GO:0034259)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of JNK cascade (GO:0046330)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of miRNA metabolic process (GO:2000630)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rac protein signal transduction (GO:0035022)|positive regulation of ruffle assembly (GO:1900029)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of wound healing (GO:0090303)|protein heterooligomerization (GO:0051291)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|protein C-terminus binding (GO:0008022)			adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225)	901		all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CATGGGTCCCGGGGGGTCCCA	0.721		6	Mis		"infrequent sarcomas, rare other types"	"rhadomyosarcoma, ganglioneuroblastoma, bladder"			Costello syndrome	HNSCC(11;0.0054)																												ENST00000417302.1		6	yes	Dom	yes	Costello syndrome	11	11p15.5	3265	Mis	v-Ha-ras Harvey rat sarcoma viral oncogene homolog			"E, L, M"		"rhadomyosarcoma, ganglioneuroblastoma, bladder"	"infrequent sarcomas, rare other types"		0				adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225)	901						c.(499-501)cCg>cTg		Harvey rat sarcoma viral oncogene homolog	Sulindac(DB00605)						11	15	14					11																	533309		2178	4279	6457	SO:0001627	intron_variant	3265	Costello syndrome	Familial Cancer Database	incl.: Facio-Cutaneous-Skeletal syndrome	activation of MAPKK activity|axon guidance|blood coagulation|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of DNA replication|positive regulation of epithelial cell proliferation|Ras protein signal transduction|synaptic transmission	cytosol|Golgi membrane|plasma membrane	GTP binding|GTPase activity|protein C-terminus binding	g.chr11:533309G>A	AJ437024	CCDS7698.1, CCDS7699.1	11p15.5	2014-09-17	2013-07-08		ENSG00000174775	ENSG00000174775			5173	protein-coding gene	gene with protein product		190020	"v-Ha-ras Harvey rat sarcoma viral oncogene homolog"	HRAS1			Standard	NM_176795		Approved		uc010qvx.2	P01112	OTTHUMG00000131919	ENST00000451590.1:c.450+143C>T	11.37:g.533309G>A		HNSCC(11;0.0054)				HRAS_ENST00000451590.1_Intron|HRAS_ENST00000311189.7_Intron|HRAS_ENST00000397594.1_Missense_Mutation_p.P167L|HRAS_ENST00000397596.2_Intron	p.P167L	NM_176795.3	NP_789765.1	P01112	RASH_HUMAN		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)	5	687	-		all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)	0			Hypervariable region.		B5BUA0|Q14080|Q6FHV9|Q9BR65|Q9UCE2	Missense_Mutation	SNP	ENST00000451590.1	37	c.500C>T	CCDS7698.1	.	.	.	.	.	.	.	.	.	.	G	13.50	2.256929	0.39896	.	.	ENSG00000174775	ENST00000397594;ENST00000417302	T;T	0.70631	-0.5;-0.5	3.22	-1.05	0.10036	.	.	.	.	.	T	0.53883	0.1824	.	.	.	0.22648	N	0.998895	B	0.02656	0.0	B	0.01281	0.0	T	0.48103	-0.9064	8	0.87932	D	0	.	4.3227	0.11025	0.3181:0.0:0.4625:0.2194	.	167	P01112-2	.	L	167	ENSP00000380722:P167L;ENSP00000388246:P167L	ENSP00000380722:P167L	P	-	2	0	HRAS	523309	0.900000	0.30661	0.910000	0.35882	0.994000	0.84299	0.779000	0.26746	0.013000	0.14918	0.561000	0.74099	CCG		0.721	HRAS-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259403.2	NM_176795		5	51	0	0	0	1	0	5	51					A	533309	G	A	533309	1	1	222	0	1	0	0	0	0	0	0	0	7348	1116	39	2		2	HRAS	11	533309	Intron	SNP	G	TCGA-HC-7817-01B-11D-A29Q-08		533309	134473207	18	10256											
CKAP5	9793	broad.mit.edu	37	chr11	46801810	46801810	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcctcaaagaacattcgcaaAgagggaccaacatacagata	18	6	7	10	1	1	3	1	0	0	3	3	4	2	4	2	1	3	1	2	1	6	3			TCGA-HC-7817-01B-11D-A29Q-08	TCGA-HC-7817-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbec5e2a-4b00-4c72-ab57-6594b7901be0	c62fbae9-4356-4b26-8b3f-daf9c77e3a62	g.chr11:46801810A>C	ENST00000529230.1	-	20	2413	c.2367T>G	c.(2365-2367)tcT>tcG	p.S789S	CKAP5_ENST00000312055.5_Silent_p.S789S|CKAP5_ENST00000354558.3_Silent_p.S789S|CKAP5_ENST00000415402.1_Silent_p.S789S			Q14008	CKAP5_HUMAN	cytoskeleton associated protein 5	789					centrosome organization (GO:0051297)|establishment or maintenance of microtubule cytoskeleton polarity (GO:0030951)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|RNA transport (GO:0050658)|spindle organization (GO:0007051)	centrosome (GO:0005813)|cytosol (GO:0005829)|membrane (GO:0016020)|protein complex (GO:0043234)|spindle pole (GO:0000922)				breast(1)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	43						ACATTCGCAAAGAGGGACCAA	0.423																																					Ovarian(4;85 273 2202 4844 13323)	ENST00000529230.1																			0				breast(1)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	43						c.(2365-2367)tcT>tcG		cytoskeleton associated protein 5							86	81	83					11																	46801810		2201	4299	6500	SO:0001819	synonymous_variant	9793				cell division|centrosome organization|establishment or maintenance of microtubule cytoskeleton polarity|G2/M transition of mitotic cell cycle|mitotic prometaphase|RNA transport|spindle organization	centrosome|cytosol	protein binding	g.chr11:46801810A>C		CCDS7924.1, CCDS31477.1	11p11.2	2006-09-20			ENSG00000175216	ENSG00000175216			28959	protein-coding gene	gene with protein product		611142				7788527, 8536682	Standard	NM_014756		Approved	ch-TOG, KIAA0097, TOG, TOGp	uc001ndi.2	Q14008	OTTHUMG00000166599	ENST00000529230.1:c.2367T>G	11.37:g.46801810A>C						CKAP5_ENST00000415402.1_Silent_p.S789S|CKAP5_ENST00000354558.3_Silent_p.S789S|CKAP5_ENST00000312055.5_Silent_p.S789S	p.S789S			Q14008	CKAP5_HUMAN			20	2413	-			789					Q05D70|Q0VAX7|Q0VAX8|Q14668|Q2TA89|Q6NSH4	Silent	SNP	ENST00000529230.1	37	c.2367T>G	CCDS31477.1																																																																																				0.423	CKAP5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390679.1	NM_014756		10	45	0	0	0	1	0	10	45					C	46801810	A	C	46801810	2	2	222	1	0	0	0	0	0	0	0	1	3445	59	3	5		5	CKAP5	11	46801810	Silent	SNP	A	TCGA-HC-7817-01B-11D-A29Q-08	46268501	46801810	88204706	19	10257											
OR4D10	390197	broad.mit.edu	37	chr11	59245336	59245336	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaccattgcattgggctcaCagtggctgcctggttggggg	6	10	16	9	0	1	1	1	0	0	1	1	1	1	1	2	5	2	4	2	5	0	3			TCGA-HC-7817-01B-11D-A29Q-08	TCGA-HC-7817-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbec5e2a-4b00-4c72-ab57-6594b7901be0	c62fbae9-4356-4b26-8b3f-daf9c77e3a62	g.chr11:59245336C>G	ENST00000530162.1	+	1	491	c.434C>G	c.(433-435)aCa>aGa	p.T145R		NM_001004705.1	NP_001004705.1	Q8NGI6	OR4DA_HUMAN	olfactory receptor, family 4, subfamily D, member 10	145						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.T145I(1)|p.T143I(1)		NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						ATTGGGCTCACAGTGGCTGCC	0.517																																						ENST00000530162.1																			2	Substitution - Missense(2)	p.T145I(1)|p.T143I(1)	lung(2)	NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						c.(433-435)aCa>aGa		olfactory receptor, family 4, subfamily D, member 10							86	89	88					11																	59245336		2200	4295	6495	SO:0001583	missense	390197				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:59245336C>G	AB065808	CCDS53636.1	11q12.1	2012-10-03		2004-03-10	ENSG00000254466	ENSG00000254466		"GPCR / Class A : Olfactory receptors"	15173	protein-coding gene	gene with protein product				OR4D10P			Standard	NM_001004705		Approved	OST711	uc001nnz.1	Q8NGI6	OTTHUMG00000167341	ENST00000530162.1:c.434C>G	11.37:g.59245336C>G	ENSP00000436424:p.Thr145Arg						p.T145R	NM_001004705.1	NP_001004705.1	Q8NGI6	OR4DA_HUMAN			1	491	+			145					B2RNH6	Missense_Mutation	SNP	ENST00000530162.1	37	c.434C>G	CCDS53636.1	.	.	.	.	.	.	.	.	.	.	C	4.408	0.075477	0.08485	.	.	ENSG00000254466	ENST00000530162	T	0.37584	1.19	4.71	1.04	0.20106	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.33962	0.0881	L	0.43646	1.37	0.09310	N	1	B	0.20261	0.043	B	0.34346	0.18	T	0.44697	-0.9311	9	0.87932	D	0	.	8.1457	0.31110	0.0:0.2469:0.0:0.7531	.	145	Q8NGI6	OR4DA_HUMAN	R	145	ENSP00000436424:T145R	ENSP00000436424:T145R	T	+	2	0	OR4D10	59001912	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.476000	0.22180	-0.012000	0.14223	-1.004000	0.02495	ACA		0.517	OR4D10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394235.1	NM_001004705		14	100	0	0	0	1	0	14	100					G	59245336	C	G	59245336	3	3	222	1	0	0	0	0	1	0	0	0	11054	478	17	5	436	5	OR4D10	11	59245336	Missense_Mutation	SNP	C	TCGA-HC-7817-01B-11D-A29Q-08	12443526	59245336	75761180	20	10258											
TTC12	54970	broad.mit.edu	37	chr11	113196336	113196336	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggtttggagaagctgaaggAcatgaaagtgctgtacacca	13	8	14	6	0	0	3	0	2	0	1	0	5	0	4	1	3	3	4	1	3	4	2			TCGA-HC-7817-01B-11D-A29Q-08	TCGA-HC-7817-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbec5e2a-4b00-4c72-ab57-6594b7901be0	c62fbae9-4356-4b26-8b3f-daf9c77e3a62	g.chr11:113196336A>G	ENST00000529221.1	+	6	518	c.413A>G	c.(412-414)gAc>gGc	p.D138G	TTC12_ENST00000314756.3_Missense_Mutation_p.D138G|TTC12_ENST00000483239.2_Missense_Mutation_p.D138G|TTC12_ENST00000393020.1_Missense_Mutation_p.D138G	NM_017868.3	NP_060338.3	Q9H892	TTC12_HUMAN	tetratricopeptide repeat domain 12	138										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		all_cancers(61;2.73e-16)|all_epithelial(67;8.64e-10)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.183)|Renal(330;0.187)		BRCA - Breast invasive adenocarcinoma(274;5.3e-06)|Epithelial(105;8.37e-05)|all cancers(92;0.000694)		AAGCTGAAGGACATGAAAGTG	0.468																																						ENST00000393020.1																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(412-414)gAc>gGc		tetratricopeptide repeat domain 12							122	107	112					11																	113196336		2201	4296	6497	SO:0001583	missense	54970						binding	g.chr11:113196336A>G	AK000542	CCDS8360.2	11q23.2	2013-01-10			ENSG00000149292	ENSG00000149292		"Tetratricopeptide (TTC) repeat domain containing"	23700	protein-coding gene	gene with protein product		610732				12964006	Standard	XM_005271607		Approved	FLJ13859, FLJ20535, TPARM	uc001pnu.3	Q9H892	OTTHUMG00000142832	ENST00000529221.1:c.413A>G	11.37:g.113196336A>G	ENSP00000433757:p.Asp138Gly					TTC12_ENST00000314756.3_Missense_Mutation_p.D138G|TTC12_ENST00000483239.2_Missense_Mutation_p.D138G|TTC12_ENST00000529221.1_Missense_Mutation_p.D138G	p.D138G			Q9H892	TTC12_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.3e-06)|Epithelial(105;8.37e-05)|all cancers(92;0.000694)	6	818	+		all_cancers(61;2.73e-16)|all_epithelial(67;8.64e-10)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.183)|Renal(330;0.187)	138					Q8N5H9|Q9NWY3	Missense_Mutation	SNP	ENST00000529221.1	37	c.413A>G	CCDS8360.2	.	.	.	.	.	.	.	.	.	.	A	26.8	4.772754	0.90108	.	.	ENSG00000149292	ENST00000529221;ENST00000442859;ENST00000531164;ENST00000529850;ENST00000314756;ENST00000525965;ENST00000393020;ENST00000455306;ENST00000483239	T;T;T;T;T;T;T;T;T	0.61627	0.09;0.09;0.09;0.09;0.09;0.09;0.09;0.09;0.09	6.02	6.02	0.97574	Tetratricopeptide-like helical (1);Armadillo-type fold (1);Tetratricopeptide repeat-containing (1);	0.223971	0.45606	D	0.000357	T	0.73179	0.3554	L	0.58925	1.835	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.75294	-0.3368	10	0.72032	D	0.01	-35.5903	15.5319	0.75970	1.0:0.0:0.0:0.0	.	138;138	A8K8G6;Q9H892	.;TTC12_HUMAN	G	138;138;113;138;138;138;138;138;138	ENSP00000433757:D138G;ENSP00000400039:D138G;ENSP00000433916:D113G;ENSP00000431806:D138G;ENSP00000315160:D138G;ENSP00000435308:D138G;ENSP00000376743:D138G;ENSP00000402004:D138G;ENSP00000419652:D138G	ENSP00000315160:D138G	D	+	2	0	TTC12	112701546	1.000000	0.71417	1.000000	0.80357	0.917000	0.54804	7.906000	0.87423	2.299000	0.77371	0.528000	0.53228	GAC		0.468	TTC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286455.2	NM_017868		19	98	0	0	0	1	0	19	98					G	113196336	A	G	113196336	3	3	222	1	0	0	0	0	1	0	0	0	16676	275	10	4	431	4	TTC12	11	113196336	Missense_Mutation	SNP	A	TCGA-HC-7817-01B-11D-A29Q-08	53951000	113196336	21810180	21	10259											
SLC4A8	9498	broad.mit.edu	37	chr12	51855065	51855065	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagatccatggccaccatcaTgacagatgaggtatgtgcaa	13	8	10	10	0	1	4	1	2	0	2	2	4	2	4	3	2	1	2	3	2	2	1			TCGA-HC-7817-01B-11D-A29Q-08	TCGA-HC-7817-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbec5e2a-4b00-4c72-ab57-6594b7901be0	c62fbae9-4356-4b26-8b3f-daf9c77e3a62	g.chr12:51855065T>A	ENST00000453097.2	+	9	1308	c.1091T>A	c.(1090-1092)aTg>aAg	p.M364K	SLC4A8_ENST00000514353.3_Missense_Mutation_p.M311K|SLC4A8_ENST00000358657.3_Missense_Mutation_p.M391K|SLC4A8_ENST00000535225.2_Missense_Mutation_p.M311K|SLC4A8_ENST00000394856.1_Missense_Mutation_p.M311K	NM_001039960.2|NM_001258401.2	NP_001035049.1|NP_001245330.1			solute carrier family 4, sodium bicarbonate cotransporter, member 8											NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(18)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(2)|urinary_tract(5)	55				BRCA - Breast invasive adenocarcinoma(357;0.15)		GCCACCATCATGACAGATGAG	0.408																																						ENST00000453097.2																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(18)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(2)|urinary_tract(5)	55						c.(1090-1092)aTg>aAg		solute carrier family 4, sodium bicarbonate cotransporter, member 8							150	131	138					12																	51855065		2203	4300	6503	SO:0001583	missense	9498				bicarbonate transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity	g.chr12:51855065T>A	AB018282	CCDS44890.1, CCDS58232.1, CCDS58233.1, CCDS73470.1	12q13.13	2013-05-22			ENSG00000050438	ENSG00000050438		"Solute carriers"	11034	protein-coding gene	gene with protein product		605024				11133997	Standard	NM_001039960		Approved	NBC3	uc001rys.2	Q2Y0W8	OTTHUMG00000169489	ENST00000453097.2:c.1091T>A	12.37:g.51855065T>A	ENSP00000405812:p.Met364Lys					SLC4A8_ENST00000535225.2_Missense_Mutation_p.M311K|SLC4A8_ENST00000514353.3_Missense_Mutation_p.M311K|SLC4A8_ENST00000394856.1_Missense_Mutation_p.M311K|SLC4A8_ENST00000358657.3_Missense_Mutation_p.M391K	p.M364K	NM_001039960.2|NM_001258401.2	NP_001035049.1|NP_001245330.1	Q2Y0W8	S4A8_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.15)	9	1308	+			364						Missense_Mutation	SNP	ENST00000453097.2	37	c.1091T>A	CCDS44890.1	.	.	.	.	.	.	.	.	.	.	T	27.0	4.795661	0.90453	.	.	ENSG00000050438	ENST00000535225;ENST00000358657;ENST00000453097;ENST00000394856;ENST00000319957;ENST00000514353;ENST00000547697;ENST00000551071	T;T;T;T;T	0.76060	-0.99;-0.99;-0.99;-0.99;-0.99	5.85	5.85	0.93711	Bicarbonate transporter, cytoplasmic (2);Phosphotransferase/anion transporter (1);	0.000000	0.85682	D	0.000000	D	0.90584	0.7048	H	0.95982	3.75	0.80722	D	1	D;D;D;D;D;D;D	0.76494	0.987;0.999;0.997;0.988;0.985;0.974;0.999	D;D;D;D;D;D;D	0.87578	0.979;0.986;0.985;0.988;0.979;0.948;0.998	D	0.93304	0.6679	10	0.87932	D	0	.	15.5289	0.75936	0.0:0.0:0.0:1.0	.	311;391;311;364;364;364;311	E7EML0;Q2Y0W8-2;F5GZ31;Q2Y0W8;Q2Y0W8-3;Q2Y0W8-6;F8VSA8	.;.;.;S4A8_HUMAN;.;.;.	K	311;391;364;311;364;311;311;311	ENSP00000441520:M311K;ENSP00000351483:M391K;ENSP00000405812:M364K;ENSP00000378325:M311K;ENSP00000442561:M311K	ENSP00000315789:M364K	M	+	2	0	SLC4A8	50141332	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.040000	0.89188	2.371000	0.80710	0.533000	0.62120	ATG		0.408	SLC4A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404356.1	NM_004858		3	41	0	0	0	1	0	3	41					A	51855065	T	A	51855065	3	1	222	1	0	0	0	0	1	0	0	0	14659	1464	51	5	1125	5	SLC4A8	12	51855065	Missense_Mutation	SNP	T	TCGA-HC-7817-01B-11D-A29Q-08		51855065	81996830	22	10260											
HELB	92797	broad.mit.edu	37	chr12	66725028	66725028	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtgaccaggggccgctgccGagtgtatgtgattgcagagg	7	8	17	9	3	0	3	0	2	0	1	0	4	0	3	3	3	2	3	3	3	1	2			TCGA-HC-7817-01B-11D-A29Q-08	TCGA-HC-7817-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbec5e2a-4b00-4c72-ab57-6594b7901be0	c62fbae9-4356-4b26-8b3f-daf9c77e3a62	g.chr12:66725028G>T	ENST00000247815.4	+	12	2824	c.2765G>T	c.(2764-2766)cGa>cTa	p.R922L		NM_033647.3	NP_387467.2	Q8NG08	HELB_HUMAN	helicase (DNA) B	922					DNA duplex unwinding (GO:0032508)|DNA replication (GO:0006260)|DNA replication, synthesis of RNA primer (GO:0006269)		ATP binding (GO:0005524)|ATP-dependent 5'-3' DNA helicase activity (GO:0043141)|single-stranded DNA-dependent ATP-dependent DNA helicase activity (GO:0017116)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	40			GBM - Glioblastoma multiforme(2;0.000142)	GBM - Glioblastoma multiforme(28;0.0265)		GGCCGCTGCCGAGTGTATGTG	0.532																																						ENST00000247815.4																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	40						c.(2764-2766)cGa>cTa		helicase (DNA) B							45	49	48					12																	66725028		2203	4300	6503	SO:0001583	missense	92797				DNA replication, synthesis of RNA primer		ATP binding|ATP-dependent 5'-3' DNA helicase activity|single-stranded DNA-dependent ATP-dependent DNA helicase activity	g.chr12:66725028G>T	AF319995	CCDS8976.1	12q14.2	2009-01-15			ENSG00000127311	ENSG00000127311			17196	protein-coding gene	gene with protein product		614539				12181327	Standard	NM_033647		Approved		uc001sti.3	Q8NG08	OTTHUMG00000169006	ENST00000247815.4:c.2765G>T	12.37:g.66725028G>T	ENSP00000247815:p.Arg922Leu						p.R922L	NM_033647.3	NP_387467.2	Q8NG08	HELB_HUMAN	GBM - Glioblastoma multiforme(2;0.000142)	GBM - Glioblastoma multiforme(28;0.0265)	12	2824	+			922					A8K4C9|Q4G0T2|Q9H7L5	Missense_Mutation	SNP	ENST00000247815.4	37	c.2765G>T	CCDS8976.1	.	.	.	.	.	.	.	.	.	.	G	16.63	3.175597	0.57692	.	.	ENSG00000127311	ENST00000247815	T	0.12465	2.68	5.37	1.5	0.22942	.	0.141894	0.43747	D	0.000538	T	0.19248	0.0462	L	0.28274	0.84	0.18873	N	0.999984	D	0.89917	1.0	D	0.76071	0.987	T	0.06391	-1.0829	9	.	.	.	-7.9472	8.6669	0.34125	0.3001:0.0:0.6999:0.0	.	922	Q8NG08	HELB_HUMAN	L	922	ENSP00000247815:R922L	.	R	+	2	0	HELB	65011295	0.049000	0.20398	0.750000	0.31169	0.983000	0.72400	2.222000	0.42926	0.267000	0.21916	0.561000	0.74099	CGA		0.532	HELB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401919.1			4	76	1	0	0.000602214	1	0.00061278	4	76					T	66725028	G	T	66725028	3	4	222	1	0	0	0	0	1	0	0	0	7045	1058	37	5	2811	5	HELB	12	66725028	Missense_Mutation	SNP	G	TCGA-HC-7817-01B-11D-A29Q-08	14869963	66725028	67126867	23	10261											
OAS2	4939	broad.mit.edu	37	chr12	113447043	113447043	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	caataccaccttggaaagtgCcggtaaaagtcatctaaagg	15	8	9	9	1	2	0	1	0	1	0	2	1	2	1	3	3	2	1	3	3	7	4			TCGA-HC-7817-01B-11D-A29Q-08	TCGA-HC-7817-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbec5e2a-4b00-4c72-ab57-6594b7901be0	c62fbae9-4356-4b26-8b3f-daf9c77e3a62	g.chr12:113447043C>T	ENST00000342315.4	+	10	2261	c.2047C>T	c.(2047-2049)Ccg>Tcg	p.P683S	OAS2_ENST00000392583.2_Missense_Mutation_p.P683S|RP1-71H24.1_ENST00000552784.1_RNA	NM_016817.2	NP_058197.2	P29728	OAS2_HUMAN	2'-5'-oligoadenylate synthetase 2, 69/71kDa	683	OAS domain 2.				cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)|nucleobase-containing compound metabolic process (GO:0006139)|protein glycosylation (GO:0006486)|protein myristoylation (GO:0018377)|purine nucleotide biosynthetic process (GO:0006164)|response to virus (GO:0009615)|RNA catabolic process (GO:0006401)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	2'-5'-oligoadenylate synthetase activity (GO:0001730)|ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(4)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						TTGGAAAGTGCCGGTAAAAGT	0.458																																					Pancreas(199;709 2232 18410 33584 35052)	ENST00000392583.2																			0				NS(1)|breast(2)|endometrium(4)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						c.(2047-2049)Ccg>Tcg		2'-5'-oligoadenylate synthetase 2, 69/71kDa							183	183	183					12																	113447043		2203	4300	6503	SO:0001583	missense	0				interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway	endoplasmic reticulum|membrane|microsome|mitochondrion|nucleus	ATP binding|nucleotidyltransferase activity|RNA binding	g.chr12:113447043C>T	M87284	CCDS31906.1, CCDS41839.1, CCDS44982.1	12q24.2	2008-05-02	2002-08-29			ENSG00000111335			8087	protein-coding gene	gene with protein product		603350	"2'-5'-oligoadenylate synthetase 2 (69-71 kD)"			9790745	Standard	NM_002535		Approved		uc001tuj.3	P29728	OTTHUMG00000169802	ENST00000342315.4:c.2047C>T	12.37:g.113447043C>T	ENSP00000342278:p.Pro683Ser					RP1-71H24.1_ENST00000552784.1_RNA|OAS2_ENST00000342315.4_Missense_Mutation_p.P683S	p.P683S	NM_002535.2	NP_002526.2	P29728	OAS2_HUMAN			10	2254	+			683			OAS domain 2.		A8K9T1|Q6PJ33|Q86XX8	Missense_Mutation	SNP	ENST00000342315.4	37	c.2047C>T	CCDS31906.1	.	.	.	.	.	.	.	.	.	.	.	14.58	2.579288	0.46006	.	.	ENSG00000111335	ENST00000342315;ENST00000392583	T;T	0.41400	1.0;1.0	4.39	3.5	0.40072	-oligoadenylate synthetase 1, domain 2/C-terminal (2);-5&apos (2);2&apos (2);	0.809574	0.10268	N	0.695164	T	0.60287	0.2257	M	0.61703	1.905	0.30815	N	0.738447	D;P	0.89917	1.0;0.932	D;P	0.91635	0.999;0.643	T	0.55444	-0.8140	10	0.45353	T	0.12	-29.1712	10.3375	0.43858	0.0:0.8006:0.1994:0.0	.	683;683	P29728;P29728-2	OAS2_HUMAN;.	S	683	ENSP00000342278:P683S;ENSP00000376362:P683S	ENSP00000342278:P683S	P	+	1	0	OAS2	111931426	0.043000	0.20138	0.086000	0.20670	0.003000	0.03518	0.433000	0.21477	1.074000	0.40909	-0.122000	0.15005	CCG		0.458	OAS2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000405937.1			6	280	0	0	0	1	0	6	280					T	113447043	C	T	113447043	3	4	222	1	0	0	0	0	1	0	0	0	10800	739	26	3	2156	3	OAS2	12	113447043	Missense_Mutation	SNP	C	TCGA-HC-7817-01B-11D-A29Q-08	46722015	113447043	20404852	24	10262											
SCARB1	949	broad.mit.edu	37	chr12	125299595	125299595	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agggctggaactggaaggtgCggtactcgaggaaggacacg	11	5	18	7	3	0	0	0	0	0	0	1	5	0	4	0	7	3	2	0	7	4	1			TCGA-HC-7817-01B-11D-A29Q-08	TCGA-HC-7817-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbec5e2a-4b00-4c72-ab57-6594b7901be0	c62fbae9-4356-4b26-8b3f-daf9c77e3a62	g.chr12:125299595C>T	ENST00000415380.2	-	3	475	c.350G>A	c.(349-351)cGc>cAc	p.R117H	SCARB1_ENST00000535005.1_5'UTR|SCARB1_ENST00000540495.1_Missense_Mutation_p.R80H|SCARB1_ENST00000339570.5_Missense_Mutation_p.R117H|SCARB1_ENST00000541205.1_Missense_Mutation_p.R76H|SCARB1_ENST00000544327.1_Missense_Mutation_p.R63H|SCARB1_ENST00000261693.6_Missense_Mutation_p.R117H|SCARB1_ENST00000376788.1_Intron|SCARB1_ENST00000546215.1_Missense_Mutation_p.R117H			Q8WTV0	SCRB1_HUMAN	scavenger receptor class B, member 1	117					adhesion of symbiont to host (GO:0044406)|androgen biosynthetic process (GO:0006702)|blood vessel endothelial cell migration (GO:0043534)|cell adhesion (GO:0007155)|cholesterol catabolic process (GO:0006707)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol import (GO:0070508)|detection of lipopolysaccharide (GO:0032497)|endothelial cell proliferation (GO:0001935)|high-density lipoprotein particle clearance (GO:0034384)|high-density lipoprotein particle remodeling (GO:0034375)|lipopolysaccharide transport (GO:0015920)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|lipoprotein metabolic process (GO:0042157)|low-density lipoprotein particle clearance (GO:0034383)|phospholipid transport (GO:0015914)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of triglyceride biosynthetic process (GO:0010867)|receptor-mediated endocytosis (GO:0006898)|recognition of apoptotic cell (GO:0043654)|regulation of phagocytosis (GO:0050764)|regulation of phosphatidylcholine catabolic process (GO:0010899)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)|triglyceride homeostasis (GO:0070328)|viral process (GO:0016032)|wound healing (GO:0042060)	caveola (GO:0005901)|cell surface (GO:0009986)|endocytic vesicle membrane (GO:0030666)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|microvillus membrane (GO:0031528)|plasma membrane (GO:0005886)	1-phosphatidylinositol binding (GO:0005545)|apolipoprotein A-I binding (GO:0034186)|apolipoprotein binding (GO:0034185)|high-density lipoprotein particle binding (GO:0008035)|high-density lipoprotein particle receptor activity (GO:0070506)|lipopolysaccharide binding (GO:0001530)|lipopolysaccharide receptor activity (GO:0001875)|low-density lipoprotein particle binding (GO:0030169)|phosphatidylserine binding (GO:0001786)|transporter activity (GO:0005215)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(7)|prostate(1)	17	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000116)|Epithelial(86;0.000415)|all cancers(50;0.00395)	Phosphatidylserine(DB00144)	CTGGAAGGTGCGGTACTCGAG	0.612																																						ENST00000339570.5																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(7)|prostate(1)	17						c.(349-351)cGc>cAc		scavenger receptor class B, member 1	Phosphatidylserine(DB00144)						401	290	328					12																	125299595		2203	4300	6503	SO:0001583	missense	949				adhesion to symbiont|cell adhesion|cholesterol efflux|cholesterol homeostasis|cholesterol import|detection of lipopolysaccharide|high-density lipoprotein particle clearance|high-density lipoprotein particle remodeling|lipopolysaccharide transport|lipoprotein metabolic process|positive regulation of cholesterol storage|positive regulation of endothelial cell migration|positive regulation of nitric-oxide synthase activity|recognition of apoptotic cell|reverse cholesterol transport|triglyceride homeostasis|wound healing	caveola	1-phosphatidylinositol binding|apolipoprotein A-I binding|high-density lipoprotein particle receptor activity|lipopolysaccharide receptor activity|low-density lipoprotein particle binding|phosphatidylserine binding|transporter activity	g.chr12:125299595C>T	Z22555	CCDS9259.1, CCDS45008.1	12q24.32	2008-08-05	2002-09-06	2002-09-06	ENSG00000073060	ENSG00000073060			1664	protein-coding gene	gene with protein product		601040	"CD36 antigen (collagen type I receptor, thrombospondin receptor)-like 1"	CD36L1		7689561	Standard	NM_001082959		Approved	SRB1, CLA-1, CLA1, SR-BI	uc001ugm.4	Q8WTV0	OTTHUMG00000168544	ENST00000415380.2:c.350G>A	12.37:g.125299595C>T	ENSP00000414979:p.Arg117His					SCARB1_ENST00000261693.6_Missense_Mutation_p.R117H|SCARB1_ENST00000541205.1_Missense_Mutation_p.R76H|SCARB1_ENST00000540495.1_Missense_Mutation_p.R80H|SCARB1_ENST00000544327.1_Missense_Mutation_p.R63H|SCARB1_ENST00000535005.1_5'UTR|SCARB1_ENST00000415380.2_Missense_Mutation_p.R117H|SCARB1_ENST00000546215.1_Missense_Mutation_p.R117H|SCARB1_ENST00000376788.1_Intron	p.R117H	NM_001082959.1	NP_001076428.1	Q8WTV0	SCRB1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000116)|Epithelial(86;0.000415)|all cancers(50;0.00395)	3	546	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		117					F8W8N0|Q14016|Q52LZ5|Q6KFX4	Missense_Mutation	SNP	ENST00000415380.2	37	c.350G>A		.	.	.	.	.	.	.	.	.	.	C	22.5	4.303627	0.81136	.	.	ENSG00000073060	ENST00000339570;ENST00000415380;ENST00000261693;ENST00000546215;ENST00000541205;ENST00000544327;ENST00000540495;ENST00000545493	T;T;T;T;T;T;T;T	0.73681	-0.77;-0.77;-0.77;-0.77;-0.77;-0.77;-0.77;-0.77	4.7	4.7	0.59300	.	0.112184	0.64402	D	0.000008	D	0.86100	0.5852	M	0.77712	2.385	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;P;D	0.75484	0.97;0.959;0.986;0.986;0.899;0.959	D	0.88251	0.2916	10	0.72032	D	0.01	-17.2456	16.6474	0.85180	0.0:1.0:0.0:0.0	.	76;117;117;117;117;117	B3KW46;B7ZKQ9;B4E3I1;Q8WTV0;F8W8N0;Q8WTV0-2	.;.;.;SCRB1_HUMAN;.;.	H	117;117;117;117;76;63;80;117	ENSP00000343795:R117H;ENSP00000414979:R117H;ENSP00000261693:R117H;ENSP00000442862:R117H;ENSP00000446107:R76H;ENSP00000444851:R63H;ENSP00000443286:R80H;ENSP00000443454:R117H	ENSP00000261693:R117H	R	-	2	0	SCARB1	123865548	1.000000	0.71417	0.597000	0.28824	0.485000	0.33311	7.147000	0.77382	2.162000	0.67917	0.491000	0.48974	CGC		0.612	SCARB1-006	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000400165.1	NM_005505		4	69	0	0	0	1	0	4	69					T	125299595	C	T	125299595	3	4	222	1	0	0	0	0	1	0	0	0	13881	768	27	1	1343	1	SCARB1	12	125299595	Missense_Mutation	SNP	C	TCGA-HC-7817-01B-11D-A29Q-08	11852552	125299595	8552300	25	10263											
ADCY4	196883	broad.mit.edu	37	chr14	24793576	24793576	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aggaggaaggtgatgctataCgtgatggccagagctggggg	10	7	19	5	1	0	3	0	2	0	1	0	5	0	5	1	6	3	2	1	6	3	2	rs141339113		TCGA-HC-7817-01B-11D-A29Q-08	TCGA-HC-7817-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbec5e2a-4b00-4c72-ab57-6594b7901be0	c62fbae9-4356-4b26-8b3f-daf9c77e3a62	g.chr14:24793576C>T	ENST00000310677.4	-	16	1958	c.1845G>A	c.(1843-1845)acG>acA	p.T615T	ADCY4_ENST00000396747.3_Silent_p.T308T|ADCY4_ENST00000554068.2_Silent_p.T615T|ADCY4_ENST00000418030.2_Silent_p.T615T	NM_001198568.1|NM_001198592.1|NM_139247.3	NP_001185497.1|NP_001185521.1|NP_640340.2	Q8NFM4	ADCY4_HUMAN	adenylate cyclase 4	615					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cAMP biosynthetic process (GO:0006171)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(265;0.0192)		TGATGCTATACGTGATGGCCA	0.567																																						ENST00000310677.4																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						c.(1843-1845)acG>acA		adenylate cyclase 4		C	,,	1,4405	2.1+/-5.4	0,1,2202	76	72	73		1845,1845,1845	0.3	1	14	dbSNP_134	73	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous	ADCY4	NM_001198568.1,NM_001198592.1,NM_139247.3	,,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,,	615/1078,615/1078,615/1078	24793576	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	196883				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding|protein binding	g.chr14:24793576C>T	AF497516	CCDS9627.1	14q11.2	2013-02-04			ENSG00000129467	ENSG00000129467	4.6.1.1	"Adenylate cyclases"	235	protein-coding gene	gene with protein product		600292				7766992	Standard	NM_001198592		Approved	AC4	uc001woy.3	Q8NFM4	OTTHUMG00000029347	ENST00000310677.4:c.1845G>A	14.37:g.24793576C>T						ADCY4_ENST00000396747.3_Silent_p.T308T|ADCY4_ENST00000554068.2_Silent_p.T615T|ADCY4_ENST00000418030.2_Silent_p.T615T	p.T615T	NM_001198568.1|NM_001198592.1|NM_139247.3	NP_001185497.1|NP_001185521.1|NP_640340.2	Q8NFM4	ADCY4_HUMAN		GBM - Glioblastoma multiforme(265;0.0192)	16	1958	-			615					B3KV74|D3DS75|Q17R40|Q6ZTM6|Q96ML7	Silent	SNP	ENST00000310677.4	37	c.1845G>A	CCDS9627.1																																																																																				0.567	ADCY4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073200.4			10	87	0	0	0	1	0	10	87					T	24793576	C	T	24793576	2	4	222	1	0	0	0	0	0	0	0	1	296	523	19	1		1	ADCY4	14	24793576	Silent	SNP	C	TCGA-HC-7817-01B-11D-A29Q-08		24793576	82555964	26	10264											
MON1B	22879	broad.mit.edu	37	chr16	77228355	77228380	+	Frame_Shift_Del	DEL	CACTTACACGTGCAAGTGTCGCCCGC	CACTTACACGTGCAAGTGTCGCCCGC	-																															gcacgcacagatcgtgagcaCacttacacgtgcaagtgtcg																								rs370926151|rs376857114|rs375201754|rs374194784		TCGA-HC-7817-01B-11D-A29Q-08	TCGA-HC-7817-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbec5e2a-4b00-4c72-ab57-6594b7901be0	c62fbae9-4356-4b26-8b3f-daf9c77e3a62	g.chr16:77228355_77228380delCACTTACACGTGCAAGTGTCGCCCGC	ENST00000248248.3	+	4	949_974	c.599_624delCACTTACACGTGCAAGTGTCGCCCGC	c.(598-624)acacttacacgtgcaagtgtcgcccgcfs	p.TLTRASVAR200fs	MON1B_ENST00000545553.1_Frame_Shift_Del_p.TLTRASVAR54fs|MON1B_ENST00000320859.6_Intron|MON1B_ENST00000439557.2_Frame_Shift_Del_p.TLTRASVAR91fs	NM_014940.2	NP_055755.1	Q7L1V2	MON1B_HUMAN	MON1 secretory trafficking family member B	200										breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	17						ATCGTGAGCACACTTACACGTGCAAGTGTCGCCCGCATCTTCGCAC	0.611																																						ENST00000248248.3																			0				breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	17						c.(598-624)afs		MON1 secretory trafficking family member B																																				SO:0001589	frameshift_variant	22879						protein binding	g.chr16:77228355_77228380delCACTTACACGTGCAAGTGTCGCCCGC	BC024277	CCDS10925.1, CCDS67082.1, CCDS67083.1	16q23.1	2013-08-21	2013-08-21		ENSG00000103111	ENSG00000103111			25020	protein-coding gene	gene with protein product		608954	"MON1 homolog B (yeast)"			10048485	Standard	NM_014940		Approved	SAND2, HSRG1, KIAA0872	uc002fez.3	Q7L1V2	OTTHUMG00000137618	ENST00000248248.3:c.599_624delCACTTACACGTGCAAGTGTCGCCCGC	16.37:g.77228355_77228380delCACTTACACGTGCAAGTGTCGCCCGC	ENSP00000248248:p.Thr200fs					MON1B_ENST00000545553.1_Frame_Shift_Del_p.TLTRASVAR54fs|MON1B_ENST00000439557.2_Frame_Shift_Del_p.TLTRASVAR91fs|MON1B_ENST00000320859.6_Intron	p.TLTRASVAR200fs	NM_014940.2	NP_055755.1	Q7L1V2	MON1B_HUMAN			4	949_974	+			200					B4DDZ0|O94949	Frame_Shift_Del	DEL	ENST00000248248.3	37	c.599_624delCACTTACACGTGCAAGTGTCGCCCGC	CCDS10925.1																																																																																				0.611	MON1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269036.2	NM_014940		12	158						12	158	---	---	---	---	-	77228380	CACTTACACGTGCAAGTGTCGCCCGC	-	77228355	7	5	222	1	0	1	0	1	0	0	0	0	9699	478	17	0	609	0	MON1B	16	77228355	Frame_Shift_Del	DEL	CACTTACACGTGCAAGTGTCGCCCGC	TCGA-HC-7817-01B-11D-A29Q-08		77228355	13126398	27	10265											
NPEPPS	9520	broad.mit.edu	37	chr17	45668127	45668127	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	aatgaaggttttgcatcctgGattgaatatctgtgtgtaga	11	15	11	4	0	1	3	0	2	1	1	2	4	2	4	1	2	1	3	1	2	5	5			TCGA-HC-7817-01B-11D-A29Q-08	TCGA-HC-7817-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbec5e2a-4b00-4c72-ab57-6594b7901be0	c62fbae9-4356-4b26-8b3f-daf9c77e3a62	g.chr17:45668127G>A	ENST00000322157.4	+	10	1377	c.1140G>A	c.(1138-1140)tgG>tgA	p.W380*	NPEPPS_ENST00000525037.1_3'UTR|NPEPPS_ENST00000544660.1_Nonsense_Mutation_p.W300*|NPEPPS_ENST00000530173.1_Nonsense_Mutation_p.W376*	NM_006310.3	NP_006301.3	P55786	PSA_HUMAN	aminopeptidase puromycin sensitive	380					antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular response to hypoxia (GO:0071456)|protein polyubiquitination (GO:0000209)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	27						TTGCATCCTGGATTGAATATC	0.383																																						ENST00000322157.4																			0				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	27						c.(1138-1140)tgG>tgA		aminopeptidase puromycin sensitive							65	58	60					17																	45668127		1799	4061	5860	SO:0001587	stop_gained	9520				proteolysis	cytosol|nucleus	aminopeptidase activity|metallopeptidase activity|protein binding|zinc ion binding	g.chr17:45668127G>A	Y07701	CCDS45721.1	17q12-q21	2008-07-18			ENSG00000141279	ENSG00000141279	3.4.11.2		7900	protein-coding gene	gene with protein product	"puromycin-sensitive aminopeptidase", "metalloproteinase MP100"	606793				9048733, 10329370	Standard	NM_006310		Approved	PSA, MP100	uc002ilr.4	P55786	OTTHUMG00000165471	ENST00000322157.4:c.1140G>A	17.37:g.45668127G>A	ENSP00000320324:p.Trp380*					NPEPPS_ENST00000530173.1_Nonsense_Mutation_p.W376*|NPEPPS_ENST00000525037.1_3'UTR|NPEPPS_ENST00000544660.1_Nonsense_Mutation_p.W300*	p.W380*	NM_006310.3	NP_006301.3	P55786	PSA_HUMAN			10	1377	+			380					B7Z463|Q6P145|Q9NP16|Q9UEM2	Nonsense_Mutation	SNP	ENST00000322157.4	37	c.1140G>A	CCDS45721.1	.	.	.	.	.	.	.	.	.	.	G	28.3	4.906672	0.92107	.	.	ENSG00000141279	ENST00000530173;ENST00000322157;ENST00000539572;ENST00000544660;ENST00000527964;ENST00000527360	.	.	.	5.75	5.75	0.90469	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.9233	0.97095	0.0:0.0:1.0:0.0	.	.	.	.	X	376;380;367;300;63;77	.	ENSP00000320324:W380X	W	+	3	0	NPEPPS	43023126	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	9.714000	0.98744	2.704000	0.92352	0.591000	0.81541	TGG		0.383	NPEPPS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384269.1	NM_006310		7	61	0	0	0	1	0	7	61					A	45668127	G	A	45668127	4	1	222	1	0	0	0	0	0	1	0	0	10575	1183	41	3	1178	3	NPEPPS	17	45668127	Nonsense_Mutation	SNP	G	TCGA-HC-7817-01B-11D-A29Q-08		45668127	35527083	28	10266											
CACNA1A	773	broad.mit.edu	37	chr19	13616783	13616783	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttggcgtattttctcaccaCgttgtcttcgctgaagagga	7	15	10	9	3	2	2	1	1	2	1	4	3	2	3	1	2	0	3	1	2	2	6			TCGA-HC-7817-01B-11D-A29Q-08	TCGA-HC-7817-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbec5e2a-4b00-4c72-ab57-6594b7901be0	c62fbae9-4356-4b26-8b3f-daf9c77e3a62	g.chr19:13616783C>T	ENST00000360228.5	-	1	255	c.256G>A	c.(256-258)Gtg>Atg	p.V86M	CACNA1A_ENST00000573710.2_Missense_Mutation_p.V86M	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	86					adult walking behavior (GO:0007628)|behavioral response to pain (GO:0048266)|calcium ion import (GO:0070509)|calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cell death (GO:0008219)|cell growth (GO:0016049)|cellular chloride ion homeostasis (GO:0030644)|cerebellar molecular layer development (GO:0021679)|cerebellar Purkinje cell differentiation (GO:0021702)|cerebellum maturation (GO:0021590)|dendrite morphogenesis (GO:0048813)|energy reserve metabolic process (GO:0006112)|gamma-aminobutyric acid secretion (GO:0014051)|gamma-aminobutyric acid signaling pathway (GO:0007214)|glucose metabolic process (GO:0006006)|hormone metabolic process (GO:0042445)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|musculoskeletal movement, spinal reflex action (GO:0050883)|negative regulation of hormone biosynthetic process (GO:0032353)|negative regulation of neuron apoptotic process (GO:0043524)|neuromuscular process controlling balance (GO:0050885)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter metabolic process (GO:0042133)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|receptor clustering (GO:0043113)|regulation of acetylcholine secretion, neurotransmission (GO:0014056)|regulation of axonogenesis (GO:0050770)|regulation of calcium ion-dependent exocytosis (GO:0017158)|regulation of insulin secretion (GO:0050796)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|spinal cord motor neuron differentiation (GO:0021522)|sulfur amino acid metabolic process (GO:0000096)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transmission of nerve impulse (GO:0019226)|vestibular nucleus development (GO:0021750)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|syntaxin binding (GO:0019905)|voltage-gated calcium channel activity (GO:0005245)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Loperamide(DB00836)|Pregabalin(DB00230)|Spironolactone(DB00421)|Verapamil(DB00661)	TTTCTCACCACGTTGTCTTCG	0.597																																						ENST00000360228.5																			0				breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42						c.(256-258)Gtg>Atg		calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)						92	97	95					19																	13616783		2055	4194	6249	SO:0001583	missense	773				cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding	g.chr19:13616783C>T	U79666	CCDS45998.1, CCDS45999.1	19p13	2014-09-17			ENSG00000141837	ENSG00000141837		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1388	protein-coding gene	gene with protein product		601011		CACNL1A4, SCA6, MHP1, MHP		8825650, 16382099, 23827678	Standard	NM_000068		Approved	Cav2.1, EA2, APCA, HPCA, FHM	uc010xne.2	O00555	OTTHUMG00000044590	ENST00000360228.5:c.256G>A	19.37:g.13616783C>T	ENSP00000353362:p.Val86Met					CACNA1A_ENST00000573710.2_Missense_Mutation_p.V86M	p.V86M	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		1	255	-			86					J3KP41|P78510|P78511|Q16290|Q92690|Q99790|Q99791|Q99792|Q99793|Q9NS88|Q9UDC4	Missense_Mutation	SNP	ENST00000360228.5	37	c.256G>A	CCDS45998.1	.	.	.	.	.	.	.	.	.	.	C	13.22	2.170832	0.38315	.	.	ENSG00000141837	ENST00000360228;ENST00000418012;ENST00000357018;ENST00000325084	T	0.57107	0.42	3.58	3.58	0.41010	.	0.422460	0.17216	U	0.182522	T	0.62768	0.2455	L	0.41710	1.295	0.35553	D	0.80404	P;D	0.71674	0.865;0.998	B;D	0.69824	0.244;0.966	T	0.71849	-0.4468	10	0.56958	D	0.05	.	14.1464	0.65353	0.0:1.0:0.0:0.0	.	86;86	O00555;Q9NS88	CAC1A_HUMAN;.	M	86	ENSP00000353362:V86M	ENSP00000317661:V86M	V	-	1	0	CACNA1A	13477783	0.993000	0.37304	1.000000	0.80357	0.984000	0.73092	0.617000	0.24359	1.850000	0.53721	0.508000	0.49915	GTG		0.597	CACNA1A-001	KNOWN	non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000104062.2	NM_000068		9	36	0	0	0	1	0	9	36					T	13616783	C	T	13616783	3	4	222	1	0	0	0	0	1	0	0	0	2538	536	19	1	7566	1	CACNA1A	19	13616783	Missense_Mutation	SNP	C	TCGA-HC-7817-01B-11D-A29Q-08		13616783	45512200	29	10267											
ZNF831	128611	broad.mit.edu	37	chr20	57767498	57767498	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccccgtgcgctccacctggaCgcccccagacaagtctcggc	6	5	10	20	4	1	1	0	0	1	1	3	2	2	2	6	2	1	1	6	2	1	0	rs139591279		TCGA-HC-7817-01B-11D-A29Q-08	TCGA-HC-7817-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbec5e2a-4b00-4c72-ab57-6594b7901be0	c62fbae9-4356-4b26-8b3f-daf9c77e3a62	g.chr20:57767498C>T	ENST00000371030.2	+	1	1424	c.1424C>T	c.(1423-1425)aCg>aTg	p.T475M		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	475							metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)	p.T475M(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					TCCACCTGGACGCCCCCAGAC	0.672																																						ENST00000371030.2																			1	Substitution - Missense(1)	p.T475M(1)	skin(1)	NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125						c.(1423-1425)aCg>aTg		zinc finger protein 831		C	MET/THR	0,3984		0,0,1992	34	40	38		1424	2	0	20	dbSNP_134	38	1,8307		0,1,4153	no	missense	ZNF831	NM_178457.1	81	0,1,6145	TT,TC,CC		0.012,0.0,0.0081	probably-damaging	475/1678	57767498	1,12291	1992	4154	6146	SO:0001583	missense	128611					intracellular	nucleic acid binding|zinc ion binding	g.chr20:57767498C>T	AL121919	CCDS42894.1	20q13.32	2008-10-20	2008-03-25	2008-03-25	ENSG00000124203	ENSG00000124203			16167	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 174"	C20orf174			Standard	NM_178457		Approved	dJ492J12.1	uc002yan.3	Q5JPB2	OTTHUMG00000032864	ENST00000371030.2:c.1424C>T	20.37:g.57767498C>T	ENSP00000360069:p.Thr475Met						p.T475M	NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN			1	1424	+	all_lung(29;0.0085)		475					Q5TDR4|Q8TCP0	Missense_Mutation	SNP	ENST00000371030.2	37	c.1424C>T	CCDS42894.1	.	.	.	.	.	.	.	.	.	.	C	10.38	1.333017	0.24167	0.0	1.2E-4	ENSG00000124203	ENST00000371030	T	0.11821	2.74	5.21	2.04	0.26737	.	.	.	.	.	T	0.22936	0.0554	M	0.69823	2.125	0.09310	N	1	D	0.76494	0.999	P	0.51806	0.68	T	0.08868	-1.0701	9	0.87932	D	0	0.4712	6.8048	0.23772	0.1416:0.7051:0.0:0.1532	.	475	Q5JPB2	ZN831_HUMAN	M	475	ENSP00000360069:T475M	ENSP00000360069:T475M	T	+	2	0	ZNF831	57200893	0.001000	0.12720	0.000000	0.03702	0.355000	0.29361	1.145000	0.31577	0.585000	0.29608	0.655000	0.94253	ACG		0.672	ZNF831-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000079916.2	NM_178457		13	96	0	0	0	1	0	13	96					T	57767498	C	T	57767498	3	4	222	1	0	0	0	0	1	0	0	0	18182	536	19	1	1426	1	ZNF831	20	57767498	Missense_Mutation	SNP	C	TCGA-HC-7817-01B-11D-A29Q-08		57767498	5258022	30	10268											
ADAMTS5	11096	broad.mit.edu	37	chr21	28327086	28327086	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgagccacagtgaaggctgcGtggaggccatcgtcttcaat	9	9	13	10	2	2	2	1	2	1	0	3	3	2	3	2	3	2	1	2	3	2	1			TCGA-HC-7817-01B-11D-A29Q-08	TCGA-HC-7817-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbec5e2a-4b00-4c72-ab57-6594b7901be0	c62fbae9-4356-4b26-8b3f-daf9c77e3a62	g.chr21:28327086G>A	ENST00000284987.5	-	2	1330	c.1209C>T	c.(1207-1209)caC>caT	p.H403H	MIR4759_ENST00000584048.1_RNA	NM_007038.3	NP_008969.2	Q9UNA0	ATS5_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 5	403	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				defense response to bacterium (GO:0042742)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|proteolysis (GO:0006508)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.H403H(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	72						TGAAGGCTGCGTGGAGGCCAT	0.498																																					Esophageal Squamous(53;683 1080 10100 14424 45938)	ENST00000284987.5																			1	Substitution - coding silent(1)	p.H403H(1)	endometrium(1)	breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	72						c.(1207-1209)caC>caT		ADAM metallopeptidase with thrombospondin type 1 motif, 5							121	112	115					21																	28327086		2203	4300	6503	SO:0001819	synonymous_variant	11096				proteolysis	proteinaceous extracellular matrix	integrin binding|metalloendopeptidase activity|zinc ion binding	g.chr21:28327086G>A	AF142099	CCDS13579.1	21q21.3	2008-07-31	2008-07-31		ENSG00000154736	ENSG00000154736		"ADAM metallopeptidases with thrombospondin type 1 motif"	221	protein-coding gene	gene with protein product	"aggrecanase-2"	605007	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 5 (aggrecanase-2)"			10438522	Standard	NM_007038		Approved	ADMP-2, ADAMTS11	uc002ymg.3	Q9UNA0	OTTHUMG00000078686	ENST00000284987.5:c.1209C>T	21.37:g.28327086G>A							p.H403H	NM_007038.3	NP_008969.2	Q9UNA0	ATS5_HUMAN			2	1330	-			403			Peptidase M12B.		Q52LV4|Q9UKP2	Silent	SNP	ENST00000284987.5	37	c.1209C>T	CCDS13579.1																																																																																				0.498	ADAMTS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171648.1			13	78	0	0	0	1	0	13	78					A	28327086	G	A	28327086	2	1	222	1	0	0	0	0	0	0	0	1	269	1136	40	1		1	ADAMTS5	21	28327086	Silent	SNP	G	TCGA-HC-7817-01B-11D-A29Q-08		28327086	19802809	31	10269											
THAP7	80764	broad.mit.edu	37	chr22	21354950	21354950	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acataccgcttcctgcatcgTctgagccggctgacttcagc	7	10	9	15	3	2	2	1	2	1	0	4	2	3	2	3	1	4	3	3	1	1	3			TCGA-HC-7817-01B-11D-A29Q-08	TCGA-HC-7817-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbec5e2a-4b00-4c72-ab57-6594b7901be0	c62fbae9-4356-4b26-8b3f-daf9c77e3a62	g.chr22:21354950T>C	ENST00000215742.4	-	3	537	c.363A>G	c.(361-363)agA>agG	p.R121R	THAP7-AS1_ENST00000452284.1_RNA|THAP7-AS1_ENST00000436079.1_RNA|THAP7-AS1_ENST00000429962.1_RNA|THAP7_ENST00000399133.2_Silent_p.R121R	NM_030573.2	NP_085050.2	Q9BT49	THAP7_HUMAN	THAP domain containing 7	121					negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nuclear speck (GO:0016607)	C2H2 zinc finger domain binding (GO:0070742)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein N-terminus binding (GO:0047485)			cervix(1)|lung(2)|prostate(3)|skin(1)|stomach(1)	8	all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)			TCCTGCATCGTCTGAGCCGGC	0.607																																						ENST00000215742.4																			0				cervix(1)|lung(2)|prostate(3)|skin(1)|stomach(1)	8						c.(361-363)agA>agG		THAP domain containing 7							108	100	103					22																	21354950		2203	4300	6503	SO:0001819	synonymous_variant	80764				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nuclear speck	C2H2 zinc finger domain binding|DNA binding|metal ion binding|protein N-terminus binding	g.chr22:21354950T>C	BC004346	CCDS13787.1	22q11.2	2013-01-25			ENSG00000184436	ENSG00000184436		"THAP (C2CH-type zinc finger) domain containing"	23190	protein-coding gene	gene with protein product		609518				12575992	Standard	NM_030573		Approved	MGC10963	uc002ztr.1	Q9BT49	OTTHUMG00000150879	ENST00000215742.4:c.363A>G	22.37:g.21354950T>C						THAP7_ENST00000399133.2_Silent_p.R121R	p.R121R	NM_030573.2	NP_085050.2	Q9BT49	THAP7_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)		3	537	-	all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	121					B2RD97|D3DX40	Silent	SNP	ENST00000215742.4	37	c.363A>G	CCDS13787.1																																																																																				0.607	THAP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320405.1	NM_030573		21	143	0	0	0	1	0	21	143					C	21354950	T	C	21354950	2	2	222	1	0	0	0	0	0	0	0	1	15846	1664	58	4		4	THAP7	22	21354950	Silent	SNP	T	TCGA-HC-7817-01B-11D-A29Q-08		21354950	29949616	32	10270											
SNRPD3	6634	broad.mit.edu	37	chr22	24953658	24953658	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ccaagatgtctattggtgtgCcgattaaagtactgcatgag	11	12	11	7	1	1	2	0	1	1	1	1	3	1	2	2	1	3	2	2	1	5	4			TCGA-HC-7817-01B-11D-A29Q-08	TCGA-HC-7817-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbec5e2a-4b00-4c72-ab57-6594b7901be0	c62fbae9-4356-4b26-8b3f-daf9c77e3a62	g.chr22:24953658C>T	ENST00000215829.3	+	2	603	c.16C>T	c.(16-18)Ccg>Tcg	p.P6S	GUCD1_ENST00000407471.3_5'Flank|GUCD1_ENST00000404664.3_5'Flank|GUCD1_ENST00000447813.2_5'Flank|GUCD1_ENST00000435822.1_5'Flank|SNRPD3_ENST00000402849.1_Missense_Mutation_p.P6S|GUCD1_ENST00000402766.1_5'Flank	NM_001278656.1|NM_004175.3	NP_001265585.1|NP_004166.1	P62318	SMD3_HUMAN	small nuclear ribonucleoprotein D3 polypeptide 18kDa	6					gene expression (GO:0010467)|histone mRNA metabolic process (GO:0008334)|mRNA 3'-end processing (GO:0031124)|mRNA splicing, via spliceosome (GO:0000398)|ncRNA metabolic process (GO:0034660)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|spliceosomal snRNP assembly (GO:0000387)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|methylosome (GO:0034709)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|pICln-Sm protein complex (GO:0034715)|small nuclear ribonucleoprotein complex (GO:0030532)|SMN-Sm protein complex (GO:0034719)|spliceosomal complex (GO:0005681)|U1 snRNP (GO:0005685)|U12-type spliceosomal complex (GO:0005689)|U4 snRNP (GO:0005687)|U7 snRNP (GO:0005683)	enzyme binding (GO:0019899)|histone pre-mRNA DCP binding (GO:0071208)|poly(A) RNA binding (GO:0044822)	p.P6S(1)		endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	6						TATTGGTGTGCCGATTAAAGT	0.478																																						ENST00000215829.3																			1	Substitution - Missense(1)	p.P6S(1)	lung(1)	endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	6						c.(16-18)Ccg>Tcg		small nuclear ribonucleoprotein D3 polypeptide 18kDa							203	172	182					22																	24953658		2203	4300	6503	SO:0001583	missense	6634				histone mRNA metabolic process|ncRNA metabolic process|spliceosomal snRNP assembly|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytosol|nucleoplasm|U12-type spliceosomal complex|U7 snRNP	enzyme binding|histone pre-mRNA DCP binding	g.chr22:24953658C>T	U15009	CCDS13828.1	22q11.23	2011-10-11	2002-08-29		ENSG00000100028	ENSG00000100028			11160	protein-coding gene	gene with protein product		601062	"small nuclear ribonucleoprotein D3 polypeptide (18kD)"			1701240, 7527560	Standard	NM_004175		Approved	SMD3, Sm-D3	uc003aam.1	P62318	OTTHUMG00000150727	ENST00000215829.3:c.16C>T	22.37:g.24953658C>T	ENSP00000215829:p.Pro6Ser					SNRPD3_ENST00000402849.1_Missense_Mutation_p.P6S	p.P6S	NM_001278656.1|NM_004175.3	NP_001265585.1|NP_004166.1	P62318	SMD3_HUMAN			2	603	+			6					B4DJP7|B5BU13|P43331	Missense_Mutation	SNP	ENST00000215829.3	37	c.16C>T	CCDS13828.1	.	.	.	.	.	.	.	.	.	.	C	34	5.356783	0.95854	.	.	ENSG00000100028	ENST00000215829;ENST00000402849	T;T	0.36157	1.27;1.27	5.72	5.72	0.89469	Like-Sm ribonucleoprotein (LSM)-related domain (1);	0.000000	0.85682	D	0.000000	T	0.73094	0.3543	H	0.95151	3.63	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.81364	-0.0966	10	0.87932	D	0	.	18.8534	0.92241	0.0:1.0:0.0:0.0	.	6;6	B4DJP7;P62318	.;SMD3_HUMAN	S	6	ENSP00000215829:P6S;ENSP00000385266:P6S	ENSP00000385994:P6S	P	+	1	0	SNRPD3	23283658	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	7.017000	0.76399	2.695000	0.91970	0.655000	0.94253	CCG		0.478	SNRPD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319813.1	NM_004175		4	120	0	0	0	1	0	4	120					T	24953658	C	T	24953658	3	4	222	1	0	0	0	0	1	0	0	0	14866	739	26	3	18	3	SNRPD3	22	24953658	Missense_Mutation	SNP	C	TCGA-HC-7817-01B-11D-A29Q-08	3598708	24953658	26350908	33	10271											
EP300	2033	broad.mit.edu	37	chr22	41573200	41573200	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tacagcaggcccaaatgcttCgcaggaggatggccagcatg	11	6	13	11	1	0	0	0	0	0	0	1	2	0	2	2	4	4	4	2	4	2	2			TCGA-HC-7817-01B-11D-A29Q-08	TCGA-HC-7817-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbec5e2a-4b00-4c72-ab57-6594b7901be0	c62fbae9-4356-4b26-8b3f-daf9c77e3a62	g.chr22:41573200C>T	ENST00000263253.7	+	31	6704	c.5485C>T	c.(5485-5487)Cgc>Tgc	p.R1829C	RP1-85F18.5_ENST00000420537.1_RNA|RP1-85F18.6_ENST00000415054.1_RNA	NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	1829					apoptotic process (GO:0006915)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|circadian rhythm (GO:0007623)|G2/M transition of mitotic cell cycle (GO:0000086)|heart development (GO:0007507)|histone H2B acetylation (GO:0043969)|histone H4 acetylation (GO:0043967)|innate immune response (GO:0045087)|internal peptidyl-lysine acetylation (GO:0018393)|internal protein amino acid acetylation (GO:0006475)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|lung development (GO:0030324)|mitotic cell cycle (GO:0000278)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of protein binding (GO:0032092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of cell cycle (GO:0051726)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|regulation of tubulin deacetylation (GO:0090043)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|skeletal muscle tissue development (GO:0007519)|somitogenesis (GO:0001756)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|activating transcription factor binding (GO:0033613)|androgen receptor binding (GO:0050681)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine N-acetyltransferase activity, acting on acetyl phosphate as donor (GO:0004468)|nuclear hormone receptor binding (GO:0035257)|pre-mRNA intronic binding (GO:0097157)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transferase activity, transferring acyl groups (GO:0016746)|zinc ion binding (GO:0008270)			NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						CCAAATGCTTCGCAGGAGGAT	0.607			"T,  N, F, Mis, O"	"MLL, RUNXBP2"	"colorectal, breast, pancreatic, AML, ALL, DLBCL"				Rubinstein-Taybi syndrome																													ENST00000263253.7				Rec	yes		22	22q13	2033	"T,  N, F, Mis, O"	300 kd E1A-Binding protein gene			"L, E"	"MLL, RUNXBP2"		"colorectal, breast, pancreatic, AML, ALL, DLBCL"		0				NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						c.(5485-5487)Cgc>Tgc		E1A binding protein p300							61	65	64					22																	41573200		2203	4300	6503	SO:0001583	missense	2033	Rubinstein-Taybi syndrome	Familial Cancer Database	Broad Thumb-Hallux syndrome	apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding	g.chr22:41573200C>T	U01877	CCDS14010.1	22q13.2	2011-07-01			ENSG00000100393	ENSG00000100393		"Chromatin-modifying enzymes / K-acetyltransferases"	3373	protein-coding gene	gene with protein product	"histone acetyltransferase p300"	602700				7523245	Standard	NM_001429		Approved	p300, KAT3B	uc003azl.4	Q09472	OTTHUMG00000150937	ENST00000263253.7:c.5485C>T	22.37:g.41573200C>T	ENSP00000263253:p.Arg1829Cys					RP1-85F18.5_ENST00000420537.1_RNA|RP1-85F18.6_ENST00000415054.1_RNA	p.R1829C	NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN			31	6704	+			1829					B1AKC2	Missense_Mutation	SNP	ENST00000263253.7	37	c.5485C>T	CCDS14010.1	.	.	.	.	.	.	.	.	.	.	C	11.25	1.582139	0.28180	.	.	ENSG00000100393	ENST00000263253	D	0.87179	-2.22	5.62	4.61	0.57282	.	0.000000	0.47455	D	0.000226	D	0.86977	0.6063	M	0.81497	2.545	0.54753	D	0.999985	B	0.28850	0.225	B	0.20184	0.028	D	0.86322	0.1693	10	0.87932	D	0	-8.5149	14.5676	0.68188	0.0:0.9297:0.0:0.0703	.	1829	Q09472	EP300_HUMAN	C	1829	ENSP00000263253:R1829C	ENSP00000263253:R1829C	R	+	1	0	EP300	39903146	1.000000	0.71417	0.997000	0.53966	0.351000	0.29236	4.968000	0.63728	1.382000	0.46385	-0.258000	0.10820	CGC		0.607	EP300-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320600.1	NM_001429		12	126	0	0	0	1	0	12	126					T	41573200	C	T	41573200	3	4	222	1	0	0	0	0	1	0	0	0	5148	884	31	2	5607	2	EP300	22	41573200	Missense_Mutation	SNP	C	TCGA-HC-7817-01B-11D-A29Q-08	16619542	41573200	9731366	34	10272											
PADI1	29943	broad.mit.edu	37	chr1	17548935	17548935	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacatggtcgtatctgtgggCacagccagtaaggaattaaa	13	9	12	7	1	1	0	0	0	1	0	2	2	1	1	1	3	1	3	1	3	5	3			TCGA-HC-7818-01A-11D-2114-08	TCGA-HC-7818-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e891ad9-b0bd-4fd7-9de1-33f5b0b1d241	906dec9a-0452-40a1-8563-163ca6be1abf	g.chr1:17548935C>A	ENST00000375471.4	+	2	335	c.243C>A	c.(241-243)ggC>ggA	p.G81G		NM_013358.2	NP_037490.2	Q9ULC6	PADI1_HUMAN	peptidyl arginine deiminase, type I	81					protein citrullination (GO:0018101)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|protein-arginine deiminase activity (GO:0004668)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	28		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00054)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00522)|BRCA - Breast invasive adenocarcinoma(304;1.3e-05)|COAD - Colon adenocarcinoma(227;1.31e-05)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(196;0.0069)|READ - Rectum adenocarcinoma(331;0.0681)|Lung(427;0.197)	L-Citrulline(DB00155)	TATCTGTGGGCACAGCCAGTA	0.517																																					Esophageal Squamous(80;414 1257 4580 27746 50832)	ENST00000375471.4																			0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	28						c.(241-243)ggC>ggA		peptidyl arginine deiminase, type I	L-Citrulline(DB00155)						120	118	118					1																	17548935		2203	4300	6503	SO:0001819	synonymous_variant	29943				peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity	g.chr1:17548935C>A	AB033768	CCDS178.1	1p36.13	2008-07-18			ENSG00000142623	ENSG00000142623	3.5.3.15	"Peptidyl arginine deiminases"	18367	protein-coding gene	gene with protein product	"peptidylarginine deiminase type I", "protein-arginine deiminase type-1", "hPAD-colony 10"	607934				12416996	Standard	NM_013358		Approved	HPAD10, PDI1, PDI, PAD1	uc001bah.1	Q9ULC6	OTTHUMG00000002294	ENST00000375471.4:c.243C>A	1.37:g.17548935C>A							p.G81G	NM_013358.2	NP_037490.2	Q9ULC6	PADI1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00522)|BRCA - Breast invasive adenocarcinoma(304;1.3e-05)|COAD - Colon adenocarcinoma(227;1.31e-05)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(196;0.0069)|READ - Rectum adenocarcinoma(331;0.0681)|Lung(427;0.197)	2	335	+		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00054)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)	81					A1L4K6|Q70SX6	Silent	SNP	ENST00000375471.4	37	c.243C>A	CCDS178.1																																																																																				0.517	PADI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006621.1	NM_013358		7	116	1	0	0.00621372	1	0.0067786	7	116					A	17548935	C	A	17548935	2	1	223	1	0	0	0	0	0	0	0	1	11377	697	25	5		5	PADI1	1	17548935	Silent	SNP	C	TCGA-HC-7818-01A-11D-2114-08		17548935	231701686	1	10273											
DAB1	1600	broad.mit.edu	37	chr1	57535038	57535038	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	caagcaattttatacctgatAaatgttttcttccgtttcgg	10	17	6	8	2	1	1	0	1	1	0	3	1	2	1	2	1	2	3	2	1	6	8			TCGA-HC-7818-01A-11D-2114-08	TCGA-HC-7818-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e891ad9-b0bd-4fd7-9de1-33f5b0b1d241	906dec9a-0452-40a1-8563-163ca6be1abf	g.chr1:57535038A>G	ENST00000371231.1	-	7	692	c.658T>C	c.(658-660)Tat>Cat	p.Y220H	DAB1_ENST00000439789.2_Intron|DAB1_ENST00000420954.2_Intron|DAB1_ENST00000371234.4_Missense_Mutation_p.Y220H|DAB1_ENST00000414851.2_Intron|DAB1_ENST00000371236.2_Missense_Mutation_p.Y220H|DAB1_ENST00000485760.1_5'UTR			O75553	DAB1_HUMAN	Dab, reelin signal transducer, homolog 1 (Drosophila)	220					adult walking behavior (GO:0007628)|cell-cell adhesion involved in neuronal-glial interactions involved in cerebral cortex radial glia guided migration (GO:0021813)|cerebellum structural organization (GO:0021589)|dendrite development (GO:0016358)|Golgi localization (GO:0051645)|lateral motor column neuron migration (GO:0097477)|midgut development (GO:0007494)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell adhesion (GO:0007162)|negative regulation of JAK-STAT cascade (GO:0046426)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of protein kinase activity (GO:0045860)|radial glia guided migration of Purkinje cell (GO:0021942)|response to drug (GO:0042493)|small GTPase mediated signal transduction (GO:0007264)|ventral spinal cord development (GO:0021517)	apical part of cell (GO:0045177)|brush border (GO:0005903)|cytosol (GO:0005829)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|postsynaptic density (GO:0014069)				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(5)	64						TATACCTGATAAATGTTTTCT	0.423																																						ENST00000371236.2																			0				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(5)	64						c.(658-660)Tat>Cat		Dab, reelin signal transducer, homolog 1 (Drosophila)							167	151	157					1																	57535038		2203	4300	6503	SO:0001583	missense	1600				cell differentiation|nervous system development			g.chr1:57535038A>G	BC067445	CCDS607.1	1p32-p31	2013-10-03	2013-10-03		ENSG00000173406	ENSG00000173406			2661	protein-coding gene	gene with protein product		603448	"disabled (Drosophila) homolog 1", "disabled homolog 1 (Drosophila)", "Dab, reelin signal transducer, homolog 1 (Drosophila)", "Dab reelin signal transducer 1"			9790777	Standard	NM_021080		Approved		uc001cys.1	O75553	OTTHUMG00000008391	ENST00000371231.1:c.658T>C	1.37:g.57535038A>G	ENSP00000360275:p.Tyr220His					DAB1_ENST00000439789.2_Intron|DAB1_ENST00000414851.2_Intron|DAB1_ENST00000420954.2_Intron|DAB1_ENST00000371231.1_Missense_Mutation_p.Y220H|DAB1_ENST00000371234.4_Missense_Mutation_p.Y220H|DAB1_ENST00000485760.1_5'UTR	p.Y220H			O75553	DAB1_HUMAN			8	921	-			220					A4FU90|B3KTG3|Q4LE59|Q5T6M6|Q5T6M9|Q5T835|Q5T836|Q5T837|Q6NWS9|Q6NWT0|Q6NWT1|Q9NYA8	Missense_Mutation	SNP	ENST00000371231.1	37	c.658T>C		.	.	.	.	.	.	.	.	.	.	A	21.3	4.135137	0.77662	.	.	ENSG00000173406	ENST00000371236;ENST00000371233;ENST00000371234;ENST00000371231	T;T;T	0.56611	0.87;0.87;0.45	5.43	5.43	0.79202	.	0.000000	0.85682	D	0.000000	T	0.63271	0.2497	L	0.50333	1.59	0.80722	D	1	D;D	0.69078	0.997;0.996	D;D	0.66351	0.921;0.943	T	0.58120	-0.7692	10	0.21540	T	0.41	-46.4246	14.1944	0.65659	1.0:0.0:0.0:0.0	.	220;220	O75553;O75553-6	DAB1_HUMAN;.	H	220	ENSP00000360280:Y220H;ENSP00000360278:Y220H;ENSP00000360275:Y220H	ENSP00000360275:Y220H	Y	-	1	0	DAB1	57307626	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.727000	0.91480	2.279000	0.76181	0.533000	0.62120	TAT		0.423	DAB1-010	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000027962.1	NM_021080		4	143	0	0	0	1	0	4	143					G	57535038	A	G	57535038	3	3	223	1	0	0	0	0	1	0	0	0	4217	362	13	4	1037	4	DAB1	1	57535038	Missense_Mutation	SNP	A	TCGA-HC-7818-01A-11D-2114-08	39986103	57535038	191715583	2	10274											
CACNA1E	777	broad.mit.edu	37	chr1	181708366	181708366	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gactttgtggtggtcgttggCgcattggtggcctttgctct	2	16	15	8	2	1	0	0	0	1	0	2	1	1	0	1	5	1	3	1	5	0	4			TCGA-HC-7818-01A-11D-2114-08	TCGA-HC-7818-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e891ad9-b0bd-4fd7-9de1-33f5b0b1d241	906dec9a-0452-40a1-8563-163ca6be1abf	g.chr1:181708366C>A	ENST00000367573.2	+	25	3696	c.3696C>A	c.(3694-3696)ggC>ggA	p.G1232G	CACNA1E_ENST00000526775.1_Silent_p.G1213G|CACNA1E_ENST00000357570.5_Silent_p.G1183G|CACNA1E_ENST00000358338.5_Silent_p.G1164G|CACNA1E_ENST00000360108.3_Silent_p.G1213G|CACNA1E_ENST00000367570.1_Silent_p.G1232G|CACNA1E_ENST00000367567.4_Silent_p.G839G	NM_001205293.1	NP_001192222.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	1232					calcium ion import (GO:0070509)|energy reserve metabolic process (GO:0006112)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|voltage-gated calcium channel activity (GO:0005245)			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						TGGTCGTTGGCGCATTGGTGG	0.493																																						ENST00000526775.1																			0				NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						c.(3637-3639)ggC>ggA		calcium channel, voltage-dependent, R type, alpha 1E subunit							337	350	346					1																	181708366		2125	4237	6362	SO:0001819	synonymous_variant	777				energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr1:181708366C>A	AK096563	CCDS53443.1, CCDS55664.1, CCDS55665.1	1q25.3	2013-01-10	2007-02-16		ENSG00000198216	ENSG00000198216		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels", "EF-hand domain containing"	1392	protein-coding gene	gene with protein product		601013		CACNL1A6		8388125, 16382099	Standard	NM_001205293		Approved	Cav2.3, BII, CACH6	uc009wxt.3	Q15878	OTTHUMG00000037301	ENST00000367573.2:c.3696C>A	1.37:g.181708366C>A						CACNA1E_ENST00000357570.5_Silent_p.G1183G|CACNA1E_ENST00000358338.5_Silent_p.G1164G|CACNA1E_ENST00000367567.4_Silent_p.G839G|CACNA1E_ENST00000367573.2_Silent_p.G1232G|CACNA1E_ENST00000367570.1_Silent_p.G1232G|CACNA1E_ENST00000360108.3_Silent_p.G1213G	p.G1213G	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN			24	3804	+			1232					B1AM12|B1AM13|B1AM14|Q14580|Q14581	Silent	SNP	ENST00000367573.2	37	c.3639C>A	CCDS55664.1																																																																																				0.493	CACNA1E-003	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090793.2	NM_000721		5	154	1	0	0.000602214	1	0.000672239	5	154					A	181708366	C	A	181708366	2	1	223	1	0	0	0	0	0	0	0	1	2542	755	27	5		5	CACNA1E	1	181708366	Silent	SNP	C	TCGA-HC-7818-01A-11D-2114-08	124173328	181708366	67542255	3	10275											
RYR2	6262	broad.mit.edu	37	chr1	237664181	237664181	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atggcctcttctttccagtcGttagtttctctgcaggaata	7	16	8	10	1	3	0	0	0	3	0	6	1	4	1	2	2	1	3	2	2	3	5			TCGA-HC-7818-01A-11D-2114-08	TCGA-HC-7818-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e891ad9-b0bd-4fd7-9de1-33f5b0b1d241	906dec9a-0452-40a1-8563-163ca6be1abf	g.chr1:237664181G>A	ENST00000366574.2	+	21	2691	c.2374G>A	c.(2374-2376)Gtt>Att	p.V792I	RYR2_ENST00000360064.6_Missense_Mutation_p.V790I|RYR2_ENST00000542537.1_Missense_Mutation_p.V776I	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	792	B30.2/SPRY 1. {ECO:0000255|PROSITE- ProRule:PRU00548}.				BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			CTTTCCAGTCGTTAGTTTCTC	0.413																																						ENST00000366574.2																			0				NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586						c.(2374-2376)Gtt>Att		ryanodine receptor 2 (cardiac)							216	198	204					1																	237664181		1895	4102	5997	SO:0001583	missense	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237664181G>A	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"Ion channels / Ryanodine receptors", "EF-hand domain containing"	10484	protein-coding gene	gene with protein product		180902	"arrhythmogenic right ventricular dysplasia 2"	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.2374G>A	1.37:g.237664181G>A	ENSP00000355533:p.Val792Ile					RYR2_ENST00000542537.1_Missense_Mutation_p.V776I|RYR2_ENST00000360064.6_Missense_Mutation_p.V790I	p.V792I	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		21	2691	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	792			B30.2/SPRY 1.		Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	c.2374G>A	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	G	18.97	3.736151	0.69189	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	T;T;T	0.64803	-0.12;-0.12;-0.12	5.98	5.98	0.97165	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.094063	0.42294	D	0.000736	T	0.47173	0.1431	N	0.13235	0.315	0.80722	D	1	P	0.42123	0.771	B	0.35073	0.195	T	0.48747	-0.9008	10	0.38643	T	0.18	.	20.4581	0.99154	0.0:0.0:1.0:0.0	.	792	Q92736	RYR2_HUMAN	I	792;790;776	ENSP00000355533:V792I;ENSP00000353174:V790I;ENSP00000443798:V776I	ENSP00000353174:V790I	V	+	1	0	RYR2	235730804	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	6.727000	0.74764	2.835000	0.97688	0.650000	0.86243	GTT		0.413	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		4	72	0	0	0	1	0	4	72					A	237664181	G	A	237664181	3	1	223	1	0	0	0	0	1	0	0	0	13769	1145	40	1	2456	1	RYR2	1	237664181	Missense_Mutation	SNP	G	TCGA-HC-7818-01A-11D-2114-08	55955815	237664181	11586440	4	10276											
OR2M5	127059	broad.mit.edu	37	chr1	248309107	248309107	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcatcatcgcttcctatgctCgagttattctggctgtcatt	6	17	7	11	2	4	0	3	0	1	0	7	1	5	0	1	1	1	4	1	1	2	5	rs41305578	byFrequency	TCGA-HC-7818-01A-11D-2114-08	TCGA-HC-7818-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e891ad9-b0bd-4fd7-9de1-33f5b0b1d241	906dec9a-0452-40a1-8563-163ca6be1abf	g.chr1:248309107C>T	ENST00000366476.1	+	1	658	c.658C>T	c.(658-660)Cga>Tga	p.R220*		NM_001004690.1	NP_001004690.1	A3KFT3	OR2M5_HUMAN	olfactory receptor, family 2, subfamily M, member 5	220						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	49	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0388)			TTCCTATGCTCGAGTTATTCT	0.428																																						ENST00000366476.1																			0				NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	49						c.(658-660)Cga>Tga		olfactory receptor, family 2, subfamily M, member 5							289	279	283					1																	248309107		2203	4300	6503	SO:0001587	stop_gained	127059				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248309107C>T		CCDS31105.1	1q44	2012-08-09		2004-03-10	ENSG00000162727	ENSG00000162727		"GPCR / Class A : Olfactory receptors"	19576	protein-coding gene	gene with protein product				OR2M5P			Standard	NM_001004690		Approved		uc010pze.2	A3KFT3	OTTHUMG00000040447	ENST00000366476.1:c.658C>T	1.37:g.248309107C>T	ENSP00000355432:p.Arg220*						p.R220*	NM_001004690.1	NP_001004690.1	A3KFT3	OR2M5_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0388)		1	658	+	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		220						Nonsense_Mutation	SNP	ENST00000366476.1	37	c.658C>T	CCDS31105.1	.	.	.	.	.	.	.	.	.	.	c	16.26	3.074277	0.55646	.	.	ENSG00000162727	ENST00000366476	.	.	.	3.28	-0.951	0.10369	.	1.329380	0.06022	U	0.651541	.	.	.	.	.	.	0.58432	D	0.999997	.	.	.	.	.	.	.	.	.	.	0.10636	T	0.68	.	0.6187	0.00774	0.2211:0.3608:0.1391:0.2789	.	.	.	.	X	220	.	ENSP00000355432:R220X	R	+	1	2	OR2M5	246375730	0.000000	0.05858	0.000000	0.03702	0.308000	0.27856	-1.296000	0.02762	-0.616000	0.05671	-0.386000	0.06593	CGA		0.428	OR2M5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097343.1	NM_001004690		6	311	0	0	0	1	0	6	311					T	248309107	C	T	248309107	4	4	223	1	0	0	0	0	0	1	0	0	11013	876	31	2	660	2	OR2M5	1	248309107	Nonsense_Mutation	SNP	C	TCGA-HC-7818-01A-11D-2114-08	10644926	248309107	941514	5	10277											
RSAD2	91543	broad.mit.edu	37	chr2	7030377	7030377	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aagagaagcagaaagatttgTtattggtgatgaagaatttg	16	12	12	1	0	0	6	0	2	0	4	0	7	0	6	0	1	1	2	0	1	6	4			TCGA-HC-7818-01A-11D-2114-08	TCGA-HC-7818-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e891ad9-b0bd-4fd7-9de1-33f5b0b1d241	906dec9a-0452-40a1-8563-163ca6be1abf	g.chr2:7030377T>C	ENST00000382040.3	+	4	945	c.809T>C	c.(808-810)gTt>gCt	p.V270A	RSAD2_ENST00000541728.1_Missense_Mutation_p.V163A	NM_080657.4	NP_542388.2			radical S-adenosyl methionine domain containing 2											endometrium(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(1)	20	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			OV - Ovarian serous cystadenocarcinoma(76;0.191)		GAAAGATTTGTTATTGGTGAT	0.413																																						ENST00000382040.3																			0				endometrium(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(1)	20						c.(808-810)gTt>gCt		radical S-adenosyl methionine domain containing 2							134	131	132					2																	7030377		2203	4300	6503	SO:0001583	missense	91543				defense response to virus	endoplasmic reticulum membrane|Golgi apparatus	catalytic activity|iron-sulfur cluster binding|metal ion binding	g.chr2:7030377T>C	AF442151	CCDS1656.1	2p25.2	2008-02-05			ENSG00000134321	ENSG00000134321			30908	protein-coding gene	gene with protein product		607810				11752458	Standard	NM_080657		Approved	cig5, viperin, vig1	uc002qyp.1	Q8WXG1	OTTHUMG00000090352	ENST00000382040.3:c.809T>C	2.37:g.7030377T>C	ENSP00000371471:p.Val270Ala					RSAD2_ENST00000541728.1_Missense_Mutation_p.V163A	p.V270A	NM_080657.4	NP_542388.2	Q8WXG1	RSAD2_HUMAN		OV - Ovarian serous cystadenocarcinoma(76;0.191)	4	945	+	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		270						Missense_Mutation	SNP	ENST00000382040.3	37	c.809T>C	CCDS1656.1	.	.	.	.	.	.	.	.	.	.	T	11.02	1.515424	0.27123	.	.	ENSG00000134321	ENST00000382040;ENST00000541728	D;D	0.92099	-2.97;-2.97	5.62	5.62	0.85841	Elongator protein 3/MiaB/NifB (1);	0.340913	0.34484	N	0.003938	D	0.90130	0.6916	L	0.48362	1.52	0.29761	N	0.835523	P	0.45396	0.857	B	0.43680	0.427	D	0.86803	0.1993	10	0.30078	T	0.28	-11.9051	16.1189	0.81329	0.0:0.0:0.0:1.0	.	270	Q8WXG1	RSAD2_HUMAN	A	270;163	ENSP00000371471:V270A;ENSP00000440859:V163A	ENSP00000371471:V270A	V	+	2	0	RSAD2	6947828	0.995000	0.38212	0.003000	0.11579	0.097000	0.18754	7.403000	0.79983	2.263000	0.75096	0.533000	0.62120	GTT		0.413	RSAD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206724.2	NM_080657		4	84	0	0	0	1	0	4	84					C	7030377	T	C	7030377	3	2	223	1	0	0	0	0	1	0	0	0	13695	1725	60	4	823	4	RSAD2	2	7030377	Missense_Mutation	SNP	T	TCGA-HC-7818-01A-11D-2114-08		7030377	236168996	6	10278											
C2orf39	92749	broad.mit.edu	37	chr2	26672885	26672885	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggttcctcatagagagcaagCtgctgagccttctcctgccc	7	10	10	14	0	2	2	1	1	1	1	4	3	3	2	4	1	5	4	4	1	2	3			TCGA-HC-7818-01A-11D-2114-08	TCGA-HC-7818-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e891ad9-b0bd-4fd7-9de1-33f5b0b1d241	906dec9a-0452-40a1-8563-163ca6be1abf	g.chr2:26672885C>G	ENST00000288710.2	+	12	1605	c.1531C>G	c.(1531-1533)Ctg>Gtg	p.L511V		NM_145038.2	NP_659475.2	Q96MC2	DRC1_HUMAN	dynein regulatory complex subunit 1	511					axonemal dynein complex assembly (GO:0070286)|bacterial-type flagellum-dependent cell motility (GO:0071973)|cilium-dependent cell motility (GO:0060285)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)											AGAGAGCAAGCTGCTGAGCCT	0.607																																						ENST00000288710.2																			0											c.(1531-1533)Ctg>Gtg		dynein regulatory complex subunit 1 homolog (Chlamydomonas)							69	63	65					2																	26672885		2203	4300	6503	SO:0001583	missense	92749							g.chr2:26672885C>G	AL833892	CCDS1723.1	2p23.3	2014-07-18	2014-07-18	2013-03-14	ENSG00000157856	ENSG00000157856			24245	protein-coding gene	gene with protein product		615288	"chromosome 2 open reading frame 39", "coiled-coil domain containing 164", "dynein regulatory complex subunit 1 homolog (Chlamydomonas)"	C2orf39, CCDC164		23354437	Standard	NM_145038		Approved	MGC16372, FLJ32660, CILD21	uc002rhg.2	Q96MC2	OTTHUMG00000125531	ENST00000288710.2:c.1531C>G	2.37:g.26672885C>G	ENSP00000288710:p.Leu511Val						p.L511V	NM_145038.2	NP_659475.2					12	1605	+								A8K1N8|Q53R91|Q53TA3|Q8NDI5	Missense_Mutation	SNP	ENST00000288710.2	37	c.1531C>G	CCDS1723.1	.	.	.	.	.	.	.	.	.	.	C	16.95	3.262369	0.59431	.	.	ENSG00000157856	ENST00000288710;ENST00000439066	T	0.21031	2.03	5.44	1.07	0.20283	.	0.243574	0.34200	N	0.004174	T	0.24586	0.0596	L	0.58969	1.84	0.31562	N	0.657402	P	0.40083	0.702	P	0.44811	0.461	T	0.22661	-1.0210	10	0.56958	D	0.05	-7.3406	9.4686	0.38829	0.0:0.6469:0.0:0.3531	.	511	Q96MC2	CC164_HUMAN	V	511;67	ENSP00000288710:L511V	ENSP00000288710:L511V	L	+	1	2	CCDC164	26526389	0.964000	0.33143	1.000000	0.80357	0.992000	0.81027	0.077000	0.14738	0.284000	0.22305	0.485000	0.47835	CTG		0.607	DRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246862.1	NM_145038		4	34	0	0	0	1	0	4	34					G	26672885	C	G	26672885	3	3	223	1	0	0	0	0	1	0	0	0	2164	796	28	5	1577	5	C2orf39	2	26672885	Missense_Mutation	SNP	C	TCGA-HC-7818-01A-11D-2114-08	19642508	26672885	216526488	7	10279											
SESTD1	91404	broad.mit.edu	37	chr2	180008456	180008456	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctgtgcaagaagttcatcatCcataggagaccatgaaaccc	14	8	8	11	0	2	3	2	1	0	2	3	4	3	3	3	1	2	2	3	1	4	2			TCGA-HC-7818-01A-11D-2114-08	TCGA-HC-7818-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e891ad9-b0bd-4fd7-9de1-33f5b0b1d241	906dec9a-0452-40a1-8563-163ca6be1abf	g.chr2:180008456C>A	ENST00000428443.3	-	9	1028	c.712G>T	c.(712-714)Gat>Tat	p.D238Y		NM_178123.4	NP_835224.3	Q86VW0	SESD1_HUMAN	SEC14 and spectrin domains 1	238							phosphatidic acid binding (GO:0070300)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylinositol-4-phosphate binding (GO:0070273)|phosphatidylinositol-5-phosphate binding (GO:0010314)			breast(2)|endometrium(4)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(3)	30			OV - Ovarian serous cystadenocarcinoma(117;0.0344)|Epithelial(96;0.0531)|all cancers(119;0.147)			AGTTCATCATCCATAGGAGAC	0.428																																						ENST00000428443.3																			0				breast(2)|endometrium(4)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(3)	30						c.(712-714)Gat>Tat		SEC14 and spectrin domains 1							137	136	136					2																	180008456		2203	4300	6503	SO:0001583	missense	91404				regulation of calcium ion transport via voltage-gated calcium channel activity		phosphatidic acid binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylinositol-4-phosphate binding|phosphatidylinositol-5-phosphate binding|protein binding	g.chr2:180008456C>A	AK096232	CCDS33338.1	2q31.3	2014-01-28			ENSG00000187231	ENSG00000187231			18379	protein-coding gene	gene with protein product						12837271	Standard	NM_178123		Approved	DKFZp434O0515, Solo	uc002uni.4	Q86VW0	OTTHUMG00000154554	ENST00000428443.3:c.712G>T	2.37:g.180008456C>A	ENSP00000415332:p.Asp238Tyr						p.D238Y	NM_178123.4	NP_835224.3	Q86VW0	SESD1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0344)|Epithelial(96;0.0531)|all cancers(119;0.147)		9	1028	-			238					Q53R38|Q53SP3|Q5GM69|Q8N6M1|Q96LQ2	Missense_Mutation	SNP	ENST00000428443.3	37	c.712G>T	CCDS33338.1	.	.	.	.	.	.	.	.	.	.	C	19.89	3.910877	0.72983	.	.	ENSG00000187231	ENST00000428443	T	0.05996	3.36	6.07	6.07	0.98685	.	0.043002	0.85682	D	0.000000	T	0.09730	0.0239	N	0.08118	0	0.80722	D	1	D	0.58970	0.984	P	0.57371	0.819	T	0.51044	-0.8755	9	.	.	.	-24.9578	20.6593	0.99626	0.0:1.0:0.0:0.0	.	238	Q86VW0	SESD1_HUMAN	Y	238	ENSP00000415332:D238Y	.	D	-	1	0	SESTD1	179716701	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	7.487000	0.81328	2.885000	0.99019	0.655000	0.94253	GAT		0.428	SESTD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335916.2	NM_178123		5	91	1	0	1.024e-07	1	1.29347e-07	5	91					A	180008456	C	A	180008456	3	1	223	1	0	0	0	0	1	0	0	0	14127	855	30	5	1418	5	SESTD1	2	180008456	Missense_Mutation	SNP	C	TCGA-HC-7818-01A-11D-2114-08	153335571	180008456	63190917	8	10280											
SETD2	29072	broad.mit.edu	37	chr3	47163454	47163454	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agagagttagactgtccaccTttattcctggtggaagactc	10	12	10	9	0	0	3	0	0	0	3	3	5	2	4	3	2	0	1	3	2	3	4			TCGA-HC-7818-01A-11D-2114-08	TCGA-HC-7818-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e891ad9-b0bd-4fd7-9de1-33f5b0b1d241	906dec9a-0452-40a1-8563-163ca6be1abf	g.chr3:47163454T>A	ENST00000409792.3	-	3	2714	c.2672A>T	c.(2671-2673)aAg>aTg	p.K891M		NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2	891					angiogenesis (GO:0001525)|cell migration involved in vasculogenesis (GO:0035441)|coronary vasculature morphogenesis (GO:0060977)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic placenta morphogenesis (GO:0060669)|forebrain development (GO:0030900)|histone H3-K36 trimethylation (GO:0097198)|mesoderm morphogenesis (GO:0048332)|mismatch repair (GO:0006298)|morphogenesis of a branching structure (GO:0001763)|neural tube closure (GO:0001843)|nucleosome organization (GO:0034728)|pericardium development (GO:0060039)|regulation of mRNA export from nucleus (GO:0010793)|regulation of transcription, DNA-templated (GO:0006355)|stem cell development (GO:0048864)|transcription elongation from RNA polymerase II promoter (GO:0006368)	chromosome (GO:0005694)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)			breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		ACTGTCCACCTTTATTCCTGG	0.388			"N, F, S, Mis"		clear cell renal carcinoma																																	ENST00000409792.3				Rec	yes		3	3p21.31	29072	"N, F, S, Mis"	SET domain containing 2			E			clear cell renal carcinoma		0				breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141						c.(2671-2673)aAg>aTg		SET domain containing 2							89	93	92					3																	47163454		2203	4300	6503	SO:0001583	missense	29072				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding	g.chr3:47163454T>A	AJ238403	CCDS2749.2	3p21.31	2014-09-17			ENSG00000181555	ENSG00000181555		"Chromatin-modifying enzymes / K-methyltransferases"	18420	protein-coding gene	gene with protein product		612778				16118227, 11461154	Standard	NM_014159		Approved	HYPB, HIF-1, KIAA1732, FLJ23184, KMT3A	uc003cqs.3	Q9BYW2	OTTHUMG00000133514	ENST00000409792.3:c.2672A>T	3.37:g.47163454T>A	ENSP00000386759:p.Lys891Met						p.K891M	NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)	3	2714	-		Acute lymphoblastic leukemia(5;0.0169)	891					O75397|O75405|Q17RW8|Q5BKS9|Q5QGN2|Q69YI5|Q6IN64|Q6ZN53|Q6ZS25|Q8N3R0|Q8TCN0|Q9C0D1|Q9H696|Q9NZW9	Missense_Mutation	SNP	ENST00000409792.3	37	c.2672A>T	CCDS2749.2	.	.	.	.	.	.	.	.	.	.	T	8.267	0.812480	0.16537	.	.	ENSG00000181555	ENST00000451092;ENST00000543224;ENST00000409792;ENST00000412450	D;T	0.89681	-2.55;1.31	4.78	2.39	0.29439	.	0.311069	0.27429	N	0.019403	T	0.77665	0.4164	N	0.14661	0.345	0.09310	N	1	P;P	0.39576	0.679;0.454	B;B	0.40101	0.319;0.241	T	0.70070	-0.4973	10	0.87932	D	0	.	4.9318	0.13921	0.0:0.171:0.1575:0.6715	.	891;891	F2Z317;Q9BYW2	.;SETD2_HUMAN	M	891;891;891;847	ENSP00000386759:K891M;ENSP00000416401:K847M	ENSP00000386759:K891M	K	-	2	0	SETD2	47138458	0.041000	0.20044	0.488000	0.27440	0.634000	0.38068	0.321000	0.19558	0.323000	0.23307	0.533000	0.62120	AAG		0.388	SETD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257479.2	NM_014159		13	82	0	0	0	1	0	13	82					A	47163454	T	A	47163454	3	1	223	1	0	0	0	0	1	0	0	0	14131	1609	56	5	5098	5	SETD2	3	47163454	Missense_Mutation	SNP	T	TCGA-HC-7818-01A-11D-2114-08		47163454	150858976	9	10281											
KLHL8	57563	broad.mit.edu	37	chr4	88116634	88116634	+	Frame_Shift_Del	DEL	T	T	-																															ttgctggtgctgttgttgccTtttcccctttgtaatgtgat																										TCGA-HC-7818-01A-11D-2114-08	TCGA-HC-7818-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e891ad9-b0bd-4fd7-9de1-33f5b0b1d241	906dec9a-0452-40a1-8563-163ca6be1abf	g.chr4:88116634delT	ENST00000273963.5	-	2	399	c.58delA	c.(58-60)aggfs	p.R20fs	KLHL8_ENST00000545252.1_5'UTR|KLHL8_ENST00000425278.2_Frame_Shift_Del_p.R20fs|KLHL8_ENST00000512111.1_Frame_Shift_Del_p.R20fs|KLHL8_ENST00000498875.2_Frame_Shift_Del_p.R20fs	NM_020803.3	NP_065854.3	Q9P2G9	KLHL8_HUMAN	kelch-like family member 8	20					protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	Cul3-RING ubiquitin ligase complex (GO:0031463)|nucleus (GO:0005634)				breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|stomach(1)|upper_aerodigestive_tract(1)	17		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.000603)		TGTTGTTGCCTTTTCCCCTTT	0.363																																						ENST00000273963.5																			0				breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|stomach(1)|upper_aerodigestive_tract(1)	17						c.(58-60)ggfs		kelch-like family member 8							208	209	209					4																	88116634		2203	4300	6503	SO:0001589	frameshift_variant	57563							g.chr4:88116634delT	AB037799	CCDS3617.1, CCDS75163.1	4q21.3	2013-01-30	2013-01-30		ENSG00000145332	ENSG00000145332		"Kelch-like", "BTB/POZ domain containing"	18644	protein-coding gene	gene with protein product		611967	"kelch-like 8 (Drosophila)"				Standard	XM_005263153		Approved	KIAA1378	uc003hql.1	Q9P2G9	OTTHUMG00000130593	ENST00000273963.5:c.58delA	4.37:g.88116634delT	ENSP00000273963:p.Arg20fs					KLHL8_ENST00000512111.1_Frame_Shift_Del_p.R20fs|KLHL8_ENST00000425278.2_Frame_Shift_Del_p.R20fs|KLHL8_ENST00000545252.1_5'UTR|KLHL8_ENST00000498875.2_Frame_Shift_Del_p.R20fs	p.R20fs	NM_020803.3	NP_065854.3	Q9P2G9	KLHL8_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000603)	2	399	-		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)	20					Q53XA3|Q6N018	Frame_Shift_Del	DEL	ENST00000273963.5	37	c.58delA	CCDS3617.1																																																																																				0.363	KLHL8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253040.1			7	230						7	230	---	---	---	---	-	88116634	T	-	88116634	7	5	223	1	0	1	0	1	0	0	0	0	8395	1608	56	0	1840	0	KLHL8	4	88116634	Frame_Shift_Del	DEL	T	TCGA-HC-7818-01A-11D-2114-08		88116634	103037642	10	10282											
FABP2	2169	broad.mit.edu	37	chr4	120240226	120240226	+	Frame_Shift_Del	DEL	T	T	-																															ttaaagatccttttggcttcTactccttcatatacataagt																										TCGA-HC-7818-01A-11D-2114-08	TCGA-HC-7818-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e891ad9-b0bd-4fd7-9de1-33f5b0b1d241	906dec9a-0452-40a1-8563-163ca6be1abf	g.chr4:120240226delT	ENST00000274024.3	-	4	656	c.369delA	c.(367-369)gtafs	p.V123fs		NM_000134.3	NP_000125.2	P12104	FABPI_HUMAN	fatty acid binding protein 2, intestinal	123					digestion (GO:0007586)	cytoplasm (GO:0005737)	fatty acid binding (GO:0005504)|transporter activity (GO:0005215)			breast(1)|large_intestine(4)|lung(1)|ovary(1)|pancreas(1)	8					Estradiol(DB00783)|Ibuprofen(DB01050)|Sulfinpyrazone(DB01138)	TTTTGGCTTCTACTCCTTCAT	0.294																																						ENST00000274024.3																			0				breast(1)|large_intestine(4)|lung(1)|ovary(1)|pancreas(1)	8						c.(367-369)gtfs		fatty acid binding protein 2, intestinal							118	119	119					4																	120240226		2203	4297	6500	SO:0001589	frameshift_variant	2169						fatty acid binding	g.chr4:120240226delT	J03465	CCDS3712.1	4q28-q31	2013-03-01			ENSG00000145384	ENSG00000145384		"Fatty acid binding protein family"	3556	protein-coding gene	gene with protein product		134640					Standard	NM_000134		Approved	I-FABP	uc003icw.3	P12104	OTTHUMG00000132972	ENST00000274024.3:c.369delA	4.37:g.120240226delT	ENSP00000274024:p.Val123fs						p.V123fs	NM_000134.3	NP_000125.2	P12104	FABPI_HUMAN			4	656	-			123					Q2NKJ1	Frame_Shift_Del	DEL	ENST00000274024.3	37	c.369delA	CCDS3712.1																																																																																				0.294	FABP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256531.1	NM_000134		14	161						14	161	---	---	---	---	-	120240226	T	-	120240226	7	5	223	1	0	1	0	1	0	0	0	0	5357	1509	53	0	33	0	FABP2	4	120240226	Frame_Shift_Del	DEL	T	TCGA-HC-7818-01A-11D-2114-08	32123592	120240226	70914050	11	10283											
PCDHGC3	5098	broad.mit.edu	37	chr5	140857775	140857775	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccttttatctacttctttctCtaatcctggtttctgtgggg	4	20	7	10	0	4	0	0	0	4	0	6	0	5	0	2	3	1	1	2	3	3	7	rs200735608	byFrequency	TCGA-HC-7818-01A-11D-2114-08	TCGA-HC-7818-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e891ad9-b0bd-4fd7-9de1-33f5b0b1d241	906dec9a-0452-40a1-8563-163ca6be1abf	g.chr5:140857775C>G	ENST00000308177.3	+	1	2196	c.2092C>G	c.(2092-2094)Cta>Gta	p.L698V	PCDHGA3_ENST00000253812.6_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|RN7SL68P_ENST00000488078.2_RNA|PCDHGB2_ENST00000522605.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA8_ENST00000398604.2_Intron	NM_002588.2|NM_032402.1	NP_002579.2|NP_115778.1	Q9UN70	PCDGK_HUMAN	protocadherin gamma subfamily C, 3	698					calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|skin(2)|urinary_tract(1)	29			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACTTCTTTCTCTAATCCTGGT	0.498											OREG0016865	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C|||	2	0.000399361	0	0	5008	,	,		19436	0.002		0	False		,,,				2504	0					ENST00000308177.3																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|skin(2)|urinary_tract(1)	29						c.(2092-2094)Cta>Gta									176	217	203					5																	140857775		2203	4300	6503	SO:0001583	missense	0							g.chr5:140857775C>G	AF152337	CCDS4261.1, CCDS75347.1, CCDS75348.1	5q31	2010-01-26			ENSG00000240184	ENSG00000240184		"Cadherins / Protocadherins : Clustered"	8716	other	protocadherin	"cadherin-like 2", "protocadherin 2", "protocadherin 43"	603627		PCDH2		9360932, 8508762	Standard	NM_032402		Approved	PC-43, PC43, PCDH-GAMMA-C3		Q9UN70	OTTHUMG00000129613	ENST00000308177.3:c.2092C>G	5.37:g.140857775C>G	ENSP00000312070:p.Leu698Val		OREG0016865	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1659	PCDHGA9_ENST00000573521.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA11_ENST00000398587.2_Intron	p.L698V	NM_002588.2|NM_032402.1	NP_002579.2|NP_115778.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2196	+								O60622|Q08192|Q9Y5C4	Missense_Mutation	SNP	ENST00000308177.3	37	c.2092C>G	CCDS4261.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	1.891	-0.455477	0.04540	.	.	ENSG00000240184	ENST00000308177	T	0.53857	0.6	5.36	1.46	0.22682	.	.	.	.	.	T	0.22244	0.0536	N	0.03071	-0.42	0.23003	N	0.998448	B;B	0.24043	0.032;0.096	B;B	0.22152	0.012;0.038	T	0.24368	-1.0162	9	0.13108	T	0.6	.	5.2007	0.15262	0.0:0.4999:0.2243:0.2758	.	698;698	Q9UN70;Q9UN70-2	PCDGK_HUMAN;.	V	698	ENSP00000312070:L698V	ENSP00000312070:L698V	L	+	1	2	PCDHGC3	140837959	0.687000	0.27671	0.980000	0.43619	0.948000	0.59901	0.016000	0.13377	0.402000	0.25451	0.655000	0.94253	CTA		0.498	PCDHGC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251808.2	NM_002588		7	299	0	0	0	1	0	7	299					G	140857775	C	G	140857775	3	3	223	1	0	0	0	0	1	0	0	0	11569	912	32	5	2094	5	PCDHGC3	5	140857775	Missense_Mutation	SNP	C	TCGA-HC-7818-01A-11D-2114-08		140857775	40057485	12	10284											
DAXX	1616	broad.mit.edu	37	chr6	33287278	33287278	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaggaagtagaagagaccaTgcctgctccattctctaaga	14	8	10	9	0	1	3	0	0	1	3	3	6	2	4	3	1	2	2	3	1	5	3			TCGA-HC-7818-01A-11D-2114-08	TCGA-HC-7818-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e891ad9-b0bd-4fd7-9de1-33f5b0b1d241	906dec9a-0452-40a1-8563-163ca6be1abf	g.chr6:33287278T>C	ENST00000374542.5	-	6	2023	c.1819A>G	c.(1819-1821)Atg>Gtg	p.M607V	DAXX_ENST00000414083.2_Missense_Mutation_p.M532V|DAXX_ENST00000266000.6_Missense_Mutation_p.M607V|DAXX_ENST00000477162.1_5'Flank|ZBTB22_ENST00000418724.1_5'Flank|ZBTB22_ENST00000431845.2_5'Flank	NM_001141969.1|NM_001141970.1|NM_001350.4	NP_001135441.1|NP_001135442.1|NP_001341.1	Q9UER7	DAXX_HUMAN	death-domain associated protein	607	Interaction with MAP3K5.				activation of JUN kinase activity (GO:0007257)|androgen receptor signaling pathway (GO:0030521)|apoptotic process (GO:0006915)|chromatin remodeling (GO:0006338)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|mitotic cytokinesis (GO:0000281)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of neuron death (GO:1901216)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein phosphorylation (GO:0001934)|regulation of protein ubiquitination (GO:0031396)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|heterochromatin (GO:0000792)|nucleus (GO:0005634)|PML body (GO:0016605)|SWI/SNF superfamily-type complex (GO:0070603)	androgen receptor binding (GO:0050681)|enzyme binding (GO:0019899)|heat shock protein binding (GO:0031072)|histone binding (GO:0042393)|p53 binding (GO:0002039)|protein homodimerization activity (GO:0042803)|protein kinase activator activity (GO:0030295)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|receptor signaling protein activity (GO:0005057)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(2)|lung(7)|ovary(3)|pancreas(18)|prostate(3)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	55						GAAGAGACCATGCCTGCTCCA	0.522			"Mis, F, N"		Pancreatic neuroendocrine tumors. Paediatric GBM																																	ENST00000374542.5				Rec	yes		6	6p21.3	1616	"Mis, F, N"	death-domain associated protein			E			Pancreatic neuroendocrine tumors. Paediatric GBM		0				breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(2)|lung(7)|ovary(3)|pancreas(18)|prostate(3)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	55						c.(1819-1821)Atg>Gtg		death-domain associated protein							86	91	90					6																	33287278		2203	4300	6503	SO:0001583	missense	1616				activation of JUN kinase activity|androgen receptor signaling pathway|apoptosis|induction of apoptosis via death domain receptors|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|regulation of protein ubiquitination|transcription, DNA-dependent	chromosome, centromeric region|cytosol|nucleolus|PML body	androgen receptor binding|heat shock protein binding|p53 binding|protein homodimerization activity|protein N-terminus binding|receptor signaling protein activity|transcription factor binding|ubiquitin protein ligase binding	g.chr6:33287278T>C	AF006041	CCDS4776.1, CCDS59008.1	6p21.3	2008-08-29	2008-08-29			ENSG00000204209			2681	protein-coding gene	gene with protein product		603186	"death-associated protein 6"			9407001, 9215629	Standard	NM_001141970		Approved	DAP6	uc011dre.2	Q9UER7		ENST00000374542.5:c.1819A>G	6.37:g.33287278T>C	ENSP00000363668:p.Met607Val					DAXX_ENST00000414083.2_Missense_Mutation_p.M532V|DAXX_ENST00000266000.6_Missense_Mutation_p.M607V	p.M607V	NM_001141969.1|NM_001141970.1|NM_001350.4	NP_001135441.1|NP_001135442.1|NP_001341.1	Q9UER7	DAXX_HUMAN			6	2023	-			607			Interaction with MAP3K5.		B4E1I3|F5H082|O14747|O15141|O15208|Q5STK9|Q9BWI3	Missense_Mutation	SNP	ENST00000374542.5	37	c.1819A>G	CCDS4776.1	.	.	.	.	.	.	.	.	.	.	T	0	-2.595649	0.00125	.	.	ENSG00000204209	ENST00000266000;ENST00000374542;ENST00000414083	.	.	.	4.82	0.876	0.19138	.	0.869647	0.10062	N	0.720739	T	0.07818	0.0196	L	0.31294	0.92	0.20926	N	0.999825	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.40327	-0.9569	9	0.02654	T	1	-1.0868	6.9249	0.24410	0.0:0.2821:0.0:0.7179	.	619;607	B4E1C1;Q9UER7	.;DAXX_HUMAN	V	607;607;532	.	ENSP00000266000:M607V	M	-	1	0	DAXX	33395256	0.725000	0.28048	0.881000	0.34555	0.003000	0.03518	-0.151000	0.10175	0.011000	0.14865	-0.269000	0.10298	ATG		0.522	DAXX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076403.1			6	71	0	0	0	1	0	6	71					C	33287278	T	C	33287278	3	2	223	1	0	0	0	0	1	0	0	0	4243	1464	51	4	415	4	DAXX	6	33287278	Missense_Mutation	SNP	T	TCGA-HC-7818-01A-11D-2114-08		33287278	137827789	13	10285											
C6orf72	116254	broad.mit.edu	37	chr6	149903651	149903651	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acgttttcccagtattctttCagtttttgaacatcatggtg	8	18	7	8	1	3	1	2	1	1	0	4	1	4	1	1	1	1	3	1	1	2	7			TCGA-HC-7818-01A-11D-2114-08	TCGA-HC-7818-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e891ad9-b0bd-4fd7-9de1-33f5b0b1d241	906dec9a-0452-40a1-8563-163ca6be1abf	g.chr6:149903651C>G	ENST00000367419.5	+	7	914	c.793C>G	c.(793-795)Cag>Gag	p.Q265E		NM_138785.3	NP_620140.1	Q9NU53	GINM1_HUMAN	glycoprotein integral membrane 1	265						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)		p.Q265*(1)									AGTATTCTTTCAGTTTTTGAA	0.363																																						ENST00000367419.5																			1	Substitution - Nonsense(1)	p.Q265*(1)	lung(1)								c.(793-795)Cag>Gag		glycoprotein integral membrane 1							170	171	170					6																	149903651		2203	4300	6503	SO:0001583	missense	116254							g.chr6:149903651C>G	BC014320	CCDS5216.1	6q24.3	2012-07-20	2012-07-20	2012-07-20	ENSG00000055211	ENSG00000055211			21074	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 72"	C6orf72			Standard	NM_138785		Approved	dJ12G14.2	uc003qmq.1	Q9NU53	OTTHUMG00000015789	ENST00000367419.5:c.793C>G	6.37:g.149903651C>G	ENSP00000356389:p.Gln265Glu						p.Q265E	NM_138785.3	NP_620140.1					7	914	+								B2RDY7|E1P5A2	Missense_Mutation	SNP	ENST00000367419.5	37	c.793C>G	CCDS5216.1	.	.	.	.	.	.	.	.	.	.	C	10.88	1.475920	0.26511	.	.	ENSG00000055211	ENST00000367419	.	.	.	5.59	4.44	0.53790	.	0.339562	0.35495	N	0.003164	T	0.08447	0.0210	N	0.08118	0	0.19300	N	0.999978	B	0.16802	0.019	B	0.13407	0.009	T	0.27226	-1.0080	8	.	.	.	-11.4013	11.7172	0.51661	0.8451:0.1549:0.0:0.0	.	265	Q9NU53	CF072_HUMAN	E	265	.	.	Q	+	1	0	C6orf72	149945344	0.998000	0.40836	0.547000	0.28179	0.834000	0.47266	2.346000	0.44027	1.063000	0.40649	-0.262000	0.10625	CAG		0.363	GINM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042644.1	NM_138785		13	148	0	0	0	1	0	13	148					G	149903651	C	G	149903651	3	3	223	1	0	0	0	0	1	0	0	0	2371	827	29	5	819	5	C6orf72	6	149903651	Missense_Mutation	SNP	C	TCGA-HC-7818-01A-11D-2114-08	116616373	149903651	21211416	14	10286											
CHCHD2	51142	broad.mit.edu	37	chr7	56172077	56172077	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acctggctgccggggcgcagCagcagaagagccaactgcag	10	3	15	13	2	0	2	0	0	0	2	0	2	0	2	3	3	6	5	3	3	2	0			TCGA-HC-7818-01A-11D-2114-08	TCGA-HC-7818-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e891ad9-b0bd-4fd7-9de1-33f5b0b1d241	906dec9a-0452-40a1-8563-163ca6be1abf	g.chr7:56172077C>A	ENST00000395422.3	-	2	304	c.142G>T	c.(142-144)Gct>Tct	p.A48S		NM_016139.2	NP_057223.1	Q9Y6H1	CHCH2_HUMAN	coiled-coil-helix-coiled-coil-helix domain containing 2	48						mitochondrion (GO:0005739)				endometrium(1)|large_intestine(1)|lung(3)	5	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			CGGGGCGCAGCAGCAGAAGAG	0.657																																						ENST00000395422.3																			0				endometrium(1)|large_intestine(1)|lung(3)	5						c.(142-144)Gct>Tct		coiled-coil-helix-coiled-coil-helix domain containing 2							14	16	15					7																	56172077		2199	4288	6487	SO:0001583	missense	51142					mitochondrion		g.chr7:56172077C>A	AF078845	CCDS5526.1	7p11.2	2014-07-14	2004-01-19	2004-01-21	ENSG00000106153	ENSG00000106153		"Coiled-coil-helix-coiled-coil-helix domain containing"	21645	protein-coding gene	gene with protein product			"chromosome 7 open reading frame 17"	C7orf17		23303788	Standard	NM_016139		Approved		uc003tsa.3	Q9Y6H1	OTTHUMG00000129429	ENST00000395422.3:c.142G>T	7.37:g.56172077C>A	ENSP00000378812:p.Ala48Ser						p.A48S	NM_016139.2	NP_057223.1	Q9Y6H1	CHCH2_HUMAN	Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)		2	304	-	Breast(14;0.214)		48					Q498C3|Q6NZ50	Missense_Mutation	SNP	ENST00000395422.3	37	c.142G>T	CCDS5526.1	.	.	.	.	.	.	.	.	.	.	C	18.25	3.582408	0.65992	.	.	ENSG00000106153	ENST00000395422	T	0.48836	0.8	4.99	4.12	0.48240	.	0.117221	0.56097	D	0.000025	T	0.48892	0.1525	M	0.84433	2.695	0.58432	D	0.999998	B	0.27853	0.191	B	0.21917	0.037	T	0.51631	-0.8681	10	0.45353	T	0.12	.	8.9679	0.35887	0.0:0.7536:0.1615:0.0848	.	48	Q9Y6H1	CHCH2_HUMAN	S	48	ENSP00000378812:A48S	ENSP00000378812:A48S	A	-	1	0	CHCHD2	56139571	0.994000	0.37717	0.983000	0.44433	0.968000	0.65278	2.942000	0.49018	1.337000	0.45525	0.655000	0.94253	GCT		0.657	CHCHD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251589.1	NM_016139		3	21	1	0	2.56e-06	1	2.92571e-06	3	21					A	56172077	C	A	56172077	3	1	223	1	0	0	0	0	1	0	0	0	3316	710	25	5	325	5	CHCHD2	7	56172077	Missense_Mutation	SNP	C	TCGA-HC-7818-01A-11D-2114-08		56172077	102966586	15	10287											
ERV3	2086	broad.mit.edu	37	chr7	64453295	64453295	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttttagtcatgatgttccccGaccacgtagtgtgggtgcag	7	13	12	9	2	1	1	1	1	0	0	2	2	2	1	3	1	1	3	3	1	2	4	rs376520157		TCGA-HC-7818-01A-11D-2114-08	TCGA-HC-7818-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e891ad9-b0bd-4fd7-9de1-33f5b0b1d241	906dec9a-0452-40a1-8563-163ca6be1abf	g.chr7:64453295G>A	ENST00000394323.2	-	2	610	c.110C>T	c.(109-111)tCg>tTg	p.S37L	ZNF117_ENST00000282869.6_5'Flank	NM_001007253.3	NP_001007254.2	Q14264	ENR1_HUMAN	endogenous retrovirus group 3, member 1	37						extracellular vesicular exosome (GO:0070062)|viral envelope (GO:0019031)				breast(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(8)	16						gatgttccccgaccacgtagt	0.478																																						ENST00000394323.2																			0				breast(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(8)	16						c.(109-111)tCg>tTg				G	LEU/SER	0,3848		0,0,1924	96	92	93		110	0.1	0.8	7		93	1,8273		0,1,4136	no	missense	ERV3-1	NM_001007253.3	145	0,1,6060	AA,AG,GG		0.0121,0.0,0.0082	benign	37/605	64453295	1,12121	1924	4137	6061	SO:0001583	missense	0					virion		g.chr7:64453295G>A	AK295189	CCDS47595.1	7p12-q11	2014-05-02	2011-05-05	2011-05-05	ENSG00000213462	ENSG00000213462			3454	other	endogenous retrovirus		131170	"endogenous retroviral sequence 3 (includes zinc finger protein H-plk/HPF9)", "endogenous retroviral sequence 3"	ERV3		2115127, 6495650, 21542922	Standard	NM_001007253		Approved	H-PLK, HERV-R, ERV-R, envR	uc011kdr.2	Q14264	OTTHUMG00000165023	ENST00000394323.2:c.110C>T	7.37:g.64453295G>A	ENSP00000391594:p.Ser37Leu						p.S37L	NM_001007253.3	NP_001007254.2	Q14264	ENR1_HUMAN			2	610	-			37						Missense_Mutation	SNP	ENST00000394323.2	37	c.110C>T	CCDS47595.1	.	.	.	.	.	.	.	.	.	.	.	11.40	1.626307	0.28978	0.0	1.21E-4	ENSG00000213462	ENST00000394323	T	0.16457	2.34	0.109	0.109	0.14578	.	.	.	.	.	T	0.07503	0.0189	N	0.08118	0	0.20703	N	0.999861	B	0.14012	0.009	B	0.01281	0.0	T	0.35400	-0.9790	8	0.34782	T	0.22	.	.	.	.	.	37	Q14264	ENR1_HUMAN	L	37	ENSP00000391594:S37L	ENSP00000391594:S37L	S	-	2	0	ERV3-1	64090730	0.776000	0.28616	0.785000	0.31869	0.789000	0.44602	0.230000	0.17852	0.181000	0.19994	0.184000	0.17185	TCG		0.478	ERV3-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381468.1	NM_001007253		4	80	0	0	0	1	0	4	80					A	64453295	G	A	64453295	3	1	223	1	0	0	0	0	1	0	0	0	5245	1059	37	2	1708	2	ERV3	7	64453295	Missense_Mutation	SNP	G	TCGA-HC-7818-01A-11D-2114-08	8281218	64453295	94685368	16	10288											
NRCAM	4897	broad.mit.edu	37	chr7	107816881	107816881	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	catacccatcttaccttcatCcacagttgttactgcttcct	8	15	3	15	0	2	0	1	0	1	0	4	0	4	0	4	0	4	3	4	0	3	6			TCGA-HC-7818-01A-11D-2114-08	TCGA-HC-7818-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e891ad9-b0bd-4fd7-9de1-33f5b0b1d241	906dec9a-0452-40a1-8563-163ca6be1abf	g.chr7:107816881C>A	ENST00000425651.2	-	24	3144	c.3145G>T	c.(3145-3147)Gat>Tat	p.D1049Y	NRCAM_ENST00000379028.3_Missense_Mutation_p.D1049Y|NRCAM_ENST00000379024.4_Missense_Mutation_p.D1030Y|NRCAM_ENST00000351718.4_Missense_Mutation_p.D1033Y|NRCAM_ENST00000413765.2_Missense_Mutation_p.D1030Y|NRCAM_ENST00000379022.4_Missense_Mutation_p.D1049Y	NM_001037132.2	NP_001032209.1	Q92823	NRCAM_HUMAN	neuronal cell adhesion molecule	1049	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|axonogenesis (GO:0007409)|central nervous system development (GO:0007417)|clustering of voltage-gated sodium channels (GO:0045162)|heterotypic cell-cell adhesion (GO:0034113)|neuron migration (GO:0001764)|neuronal action potential propagation (GO:0019227)|positive regulation of neuron differentiation (GO:0045666)|protein localization (GO:0008104)|regulation of axon extension (GO:0030516)|retinal ganglion cell axon guidance (GO:0031290)|single organismal cell-cell adhesion (GO:0016337)|synapse assembly (GO:0007416)	axon initial segment (GO:0043194)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)	ankyrin binding (GO:0030506)			breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(1)|lung(36)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	65						TTACCTTCATCCACAGTTGTT	0.308																																						ENST00000379028.3																			0				breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(1)|lung(36)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	65						c.(3145-3147)Gat>Tat		neuronal cell adhesion molecule							120	117	118					7																	107816881		2203	4300	6503	SO:0001583	missense	4897				angiogenesis|axon guidance|axonal fasciculation|cell-cell adhesion|central nervous system development|clustering of voltage-gated sodium channels|neuron migration|positive regulation of neuron differentiation|regulation of axon extension|synapse assembly	external side of plasma membrane|integral to plasma membrane	ankyrin binding	g.chr7:107816881C>A		CCDS5751.1, CCDS47686.1, CCDS55153.1, CCDS75652.1	7q31	2013-02-11			ENSG00000091129	ENSG00000091129		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	7994	protein-coding gene	gene with protein product	"NgCAM-related cell adhesion molecule"	601581				8812479	Standard	NM_001037132		Approved	KIAA0343, Bravo	uc022aka.1	Q92823	OTTHUMG00000154973	ENST00000425651.2:c.3145G>T	7.37:g.107816881C>A	ENSP00000401244:p.Asp1049Tyr					NRCAM_ENST00000413765.2_Missense_Mutation_p.D1030Y|NRCAM_ENST00000379022.4_Missense_Mutation_p.D1049Y|NRCAM_ENST00000351718.4_Missense_Mutation_p.D1033Y|NRCAM_ENST00000425651.2_Missense_Mutation_p.D1049Y|NRCAM_ENST00000379024.4_Missense_Mutation_p.D1030Y	p.D1049Y			Q92823	NRCAM_HUMAN			27	3615	-			1049					A4D0S3|E9PDA4|O15051|O15179|Q14BM2|Q9UHI3|Q9UHI4	Missense_Mutation	SNP	ENST00000425651.2	37	c.3145G>T	CCDS47686.1	.	.	.	.	.	.	.	.	.	.	C	17.31	3.357211	0.61293	.	.	ENSG00000091129	ENST00000379032;ENST00000379028;ENST00000413765;ENST00000537765;ENST00000351718;ENST00000379024;ENST00000425651;ENST00000379022	T;T;T;T;T;T	0.54866	0.55;0.55;0.55;0.55;0.55;0.55	5.62	3.83	0.44106	Fibronectin, type III (1);Immunoglobulin-like fold (1);	0.087086	0.85682	D	0.000000	T	0.68550	0.3013	M	0.72894	2.215	0.80722	D	1	D;D;D;P;D	0.65815	0.993;0.995;0.967;0.947;0.973	P;D;P;P;P	0.69654	0.886;0.965;0.823;0.8;0.746	T	0.70450	-0.4868	10	0.72032	D	0.01	.	12.0278	0.53382	0.0:0.8609:0.0:0.1391	.	1049;1030;1030;1033;1049	Q92823-5;Q92823-3;E9PDA4;Q92823-4;Q92823	.;.;.;.;NRCAM_HUMAN	Y	1049;1049;1030;1049;1033;1030;1049;1049	ENSP00000368314:D1049Y;ENSP00000407858:D1030Y;ENSP00000325269:D1033Y;ENSP00000368310:D1030Y;ENSP00000401244:D1049Y;ENSP00000368308:D1049Y	ENSP00000325269:D1033Y	D	-	1	0	NRCAM	107604117	1.000000	0.71417	0.997000	0.53966	0.892000	0.51952	3.988000	0.56951	0.736000	0.32559	0.650000	0.86243	GAT		0.308	NRCAM-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337942.2	NM_001037132		6	111	1	0	2.0095e-06	1	2.35258e-06	6	111					A	107816881	C	A	107816881	3	1	223	1	0	0	0	0	1	0	0	0	10644	855	30	5	827	5	NRCAM	7	107816881	Missense_Mutation	SNP	C	TCGA-HC-7818-01A-11D-2114-08	43363586	107816881	51321782	17	10289											
DLC1	10395	broad.mit.edu	37	chr8	12957624	12957624	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccgactggctgctgctgctgCtggtctgcgtggagttggaa	4	11	16	10	2	1	0	0	0	1	0	1	3	1	2	1	4	5	6	1	4	1	1			TCGA-HC-7818-01A-11D-2114-08	TCGA-HC-7818-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e891ad9-b0bd-4fd7-9de1-33f5b0b1d241	906dec9a-0452-40a1-8563-163ca6be1abf	g.chr8:12957624C>G	ENST00000276297.4	-	9	2631	c.2222G>C	c.(2221-2223)aGc>aCc	p.S741T	DLC1_ENST00000520226.1_Missense_Mutation_p.S230T|DLC1_ENST00000512044.2_Missense_Mutation_p.S338T|DLC1_ENST00000358919.2_Missense_Mutation_p.S304T	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN	DLC1 Rho GTPase activating protein	741	Focal adhesion-targeting (FAT).|Poly-Ser.				actin cytoskeleton organization (GO:0030036)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|focal adhesion assembly (GO:0048041)|forebrain development (GO:0030900)|heart morphogenesis (GO:0003007)|hindbrain morphogenesis (GO:0021575)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of stress fiber assembly (GO:0051497)|neural tube closure (GO:0001843)|positive regulation of execution phase of apoptosis (GO:1900119)|positive regulation of protein dephosphorylation (GO:0035307)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	lipid binding (GO:0008289)|Rho GTPase activator activity (GO:0005100)|SH2 domain binding (GO:0042169)			NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						GCTGCTGCTGCTGGTCTGCGT	0.627																																						ENST00000276297.4																			0				NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						c.(2221-2223)aGc>aCc		deleted in liver cancer 1							56	47	50					8																	12957624		2203	4300	6503	SO:0001583	missense	10395				actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding	g.chr8:12957624C>G	AF035119	CCDS5989.1, CCDS5990.1, CCDS5991.1, CCDS5991.2, CCDS55201.1	8p22	2014-06-20	2014-06-20		ENSG00000164741	ENSG00000164741		"Rho GTPase activating proteins", "StAR-related lipid transfer (START) domain containing"	2897	protein-coding gene	gene with protein product	"StAR-related lipid transfer (START) domain containing 12"	604258	"deleted in liver cancer 1"			9605766, 11214970	Standard	NM_182643		Approved	HP, ARHGAP7, STARD12, DLC-1, p122-RhoGAP	uc003wwm.2	Q96QB1	OTTHUMG00000090825	ENST00000276297.4:c.2222G>C	8.37:g.12957624C>G	ENSP00000276297:p.Ser741Thr					DLC1_ENST00000520226.1_Missense_Mutation_p.S230T|DLC1_ENST00000512044.2_Missense_Mutation_p.S338T|DLC1_ENST00000358919.2_Missense_Mutation_p.S304T	p.S741T	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN			9	2631	-			741			Poly-Ser.		B4DR10|B8PTI0|E9PDZ8|E9PF76|E9PGY9|O14868|O43199|Q7Z5R8|Q86UC6|Q9C0E0|Q9H7A2	Missense_Mutation	SNP	ENST00000276297.4	37	c.2222G>C	CCDS5989.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.320479	0.81469	.	.	ENSG00000164741	ENST00000276297;ENST00000358919;ENST00000512044;ENST00000520226	T;T;T;T	0.07688	3.42;3.19;3.19;3.17	4.57	4.57	0.56435	.	0.000000	0.85682	D	0.000000	T	0.31979	0.0814	M	0.80422	2.495	0.80722	D	1	D;B;D	0.65815	0.995;0.103;0.99	P;B;D	0.72982	0.795;0.132;0.979	T	0.09975	-1.0650	10	0.66056	D	0.02	.	17.9274	0.88987	0.0:1.0:0.0:0.0	.	741;338;304	Q96QB1;E9PDZ8;Q96QB1-1	RHG07_HUMAN;.;.	T	741;304;338;230	ENSP00000276297:S741T;ENSP00000351797:S304T;ENSP00000422595:S338T;ENSP00000428028:S230T	ENSP00000276297:S741T	S	-	2	0	DLC1	13001995	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.462000	0.80851	2.527000	0.85204	0.561000	0.74099	AGC		0.627	DLC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207632.2	NM_182643, NM_006094		3	40	0	0	0	1	0	3	40					G	12957624	C	G	12957624	3	3	223	1	0	0	0	0	1	0	0	0	4550	797	28	5	2404	5	DLC1	8	12957624	Missense_Mutation	SNP	C	TCGA-HC-7818-01A-11D-2114-08		12957624	133406398	18	10290											
ZHX1	11244	broad.mit.edu	37	chr8	124267245	124267245	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gcttgagcagaaagaactgtAatttctgacattgttgggta	12	13	11	5	0	1	4	0	2	1	2	1	4	1	4	0	1	2	5	0	1	4	6			TCGA-HC-7818-01A-11D-2114-08	TCGA-HC-7818-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e891ad9-b0bd-4fd7-9de1-33f5b0b1d241	906dec9a-0452-40a1-8563-163ca6be1abf	g.chr8:124267245A>G	ENST00000522655.1	-	3	1482	c.942T>C	c.(940-942)atT>atC	p.I314I	ZHX1_ENST00000297857.2_Silent_p.I314I|ZHX1_ENST00000395571.3_Silent_p.I314I|ZHX1_ENST00000522595.1_5'Flank|ZHX1-C8ORF76_ENST00000357082.4_Intron			Q9UKY1	ZHX1_HUMAN	zinc fingers and homeoboxes 1	314	Required for dimerization.|Required for interaction with NFYA.				cell differentiation (GO:0030154)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29	Lung NSC(37;1.25e-09)|Ovarian(258;0.0154)		STAD - Stomach adenocarcinoma(47;0.00527)			AAAGAACTGTAATTTCTGACA	0.403																																						ENST00000395571.3																			0				breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29						c.(940-942)atT>atC		zinc fingers and homeoboxes 1							218	221	220					8																	124267245		2203	4300	6503	SO:0001819	synonymous_variant	11244				negative regulation of transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:124267245A>G	AF106862	CCDS6342.1	8q24.13	2012-03-09	2004-01-23		ENSG00000165156	ENSG00000165156		"Zinc fingers, C2H2-type", "Homeoboxes / ZF class"	12871	protein-coding gene	gene with protein product		604764	"zinc-fingers and homeoboxes 1"			10441475	Standard	NM_001017926		Approved		uc003yqe.3	Q9UKY1	OTTHUMG00000165088	ENST00000522655.1:c.942T>C	8.37:g.124267245A>G						ZHX1_ENST00000522655.1_Silent_p.I314I|ZHX1-C8ORF76_ENST00000357082.4_Intron|ZHX1_ENST00000297857.2_Silent_p.I314I	p.I314I	NM_001017926.2|NM_007222.4	NP_001017926.1|NP_009153.3	Q9UKY1	ZHX1_HUMAN	STAD - Stomach adenocarcinoma(47;0.00527)		3	1559	-	Lung NSC(37;1.25e-09)|Ovarian(258;0.0154)		314			Required for dimerization.|Required for interaction with NFYA.		Q8IWD8	Silent	SNP	ENST00000522655.1	37	c.942T>C	CCDS6342.1																																																																																				0.403	ZHX1-003	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000381759.1			8	274	0	0	0	1	0	8	274					G	124267245	A	G	124267245	2	3	223	1	0	0	0	0	0	0	0	1	17672	358	13	4		4	ZHX1	8	124267245	Silent	SNP	A	TCGA-HC-7818-01A-11D-2114-08	111309621	124267245	22096777	19	10291											
ZNF484	83744	broad.mit.edu	37	chr9	95610657	95610657	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cttgttaatgaagacaacacGacttaaaggtttgttctggt	12	14	9	6	1	1	2	0	1	1	1	1	3	1	2	0	2	1	3	0	2	5	5			TCGA-HC-7818-01A-11D-2114-08	TCGA-HC-7818-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e891ad9-b0bd-4fd7-9de1-33f5b0b1d241	906dec9a-0452-40a1-8563-163ca6be1abf	g.chr9:95610657G>A	ENST00000375495.3	-	5	560	c.412C>T	c.(412-414)Cgt>Tgt	p.R138C	ZNF484_ENST00000395506.3_Missense_Mutation_p.R140C|ZNF484_ENST00000332591.6_Missense_Mutation_p.R102C|ANKRD19P_ENST00000473204.1_RNA|ZNF484_ENST00000395505.2_Missense_Mutation_p.R102C	NM_031486.2	NP_113674.1	Q5JVG2	ZN484_HUMAN	zinc finger protein 484	138					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R138C(2)		NS(1)|breast(1)|cervix(1)|kidney(8)|large_intestine(10)|lung(10)|prostate(2)	33						AAGACAACACGACTTAAAGGT	0.368																																						ENST00000395505.2																			2	Substitution - Missense(2)	p.R138C(2)	large_intestine(2)	NS(1)|breast(1)|cervix(1)|kidney(8)|large_intestine(10)|lung(10)|prostate(2)	33						c.(304-306)Cgt>Tgt		zinc finger protein 484							213	207	209					9																	95610657		2203	4300	6503	SO:0001583	missense	83744				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:95610657G>A	AK091203	CCDS35066.1, CCDS35067.1, CCDS59136.1	9q22.32	2013-01-08			ENSG00000127081	ENSG00000127081		"Zinc fingers, C2H2-type", "-"	23385	protein-coding gene	gene with protein product							Standard	NM_001007101		Approved	BA526D8.4, FLJ33884	uc004asu.2	Q5JVG2	OTTHUMG00000020236	ENST00000375495.3:c.412C>T	9.37:g.95610657G>A	ENSP00000364645:p.Arg138Cys					ANKRD19P_ENST00000473204.1_RNA|ZNF484_ENST00000395506.3_Missense_Mutation_p.R140C|ZNF484_ENST00000375495.3_Missense_Mutation_p.R138C|ZNF484_ENST00000332591.6_Missense_Mutation_p.R102C	p.R102C	NM_001261459.1|NM_001261460.1	NP_001248388.1|NP_001248389.1	Q5JVG2	ZN484_HUMAN			3	396	-			138					B1AL89|B4DRI2	Missense_Mutation	SNP	ENST00000375495.3	37	c.304C>T	CCDS35066.1	.	.	.	.	.	.	.	.	.	.	.	2.518	-0.311334	0.05422	.	.	ENSG00000127081	ENST00000395505;ENST00000395506;ENST00000375495;ENST00000332591	T;T;T;T	0.07021	3.23;3.35;3.37;3.23	2.94	2.03	0.26663	.	.	.	.	.	T	0.03477	0.0100	N	0.03608	-0.345	0.09310	N	1	D;P	0.55172	0.97;0.947	B;B	0.40534	0.332;0.332	T	0.36601	-0.9741	9	0.62326	D	0.03	.	5.7179	0.17970	0.1486:0.0:0.8514:0.0	.	140;138	B4DRI2;Q5JVG2	.;ZN484_HUMAN	C	102;140;138;102	ENSP00000378881:R102C;ENSP00000378882:R140C;ENSP00000364645:R138C;ENSP00000364646:R102C	ENSP00000364646:R102C	R	-	1	0	ZNF484	94650478	0.001000	0.12720	0.002000	0.10522	0.005000	0.04900	0.546000	0.23284	0.806000	0.34183	0.643000	0.83706	CGT		0.368	ZNF484-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000053111.2	XM_046861		6	126	0	0	0	1	0	6	126					A	95610657	G	A	95610657	3	1	223	1	0	0	0	0	1	0	0	0	17934	1058	37	2	2150	2	ZNF484	9	95610657	Missense_Mutation	SNP	G	TCGA-HC-7818-01A-11D-2114-08		95610657	45602774	20	10292											
GRIN1	2902	broad.mit.edu	37	chr9	140056884	140056886	+	In_Frame_Del	DEL	GAG	GAG	-																															gccggttcaaggtgaacagcGaggaggaggaggaggacgca																										TCGA-HC-7818-01A-11D-2114-08	TCGA-HC-7818-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e891ad9-b0bd-4fd7-9de1-33f5b0b1d241	906dec9a-0452-40a1-8563-163ca6be1abf	g.chr9:140056884_140056886delGAG	ENST00000371561.3	+	13	2877_2879	c.1780_1782delGAG	c.(1780-1782)gagdel	p.E598del	GRIN1_ENST00000371559.4_In_Frame_Del_p.E598del|GRIN1_ENST00000371560.3_In_Frame_Del_p.E619del|GRIN1_ENST00000371550.4_In_Frame_Del_p.E598del|GRIN1_ENST00000371555.4_In_Frame_Del_p.E619del|GRIN1_ENST00000371553.3_In_Frame_Del_p.E619del|GRIN1_ENST00000350902.5_In_Frame_Del_p.E598del|GRIN1_ENST00000471122.1_3'UTR|GRIN1_ENST00000371546.4_In_Frame_Del_p.E619del|GRIN1_ENST00000315048.3_In_Frame_Del_p.E598del	NM_007327.3	NP_015566.1	Q05586	NMDZ1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 1	598					adult locomotory behavior (GO:0008344)|calcium ion homeostasis (GO:0055074)|calcium ion transmembrane transport (GO:0070588)|cation transport (GO:0006812)|cellular calcium ion homeostasis (GO:0006874)|cellular response to manganese ion (GO:0071287)|cerebral cortex development (GO:0021987)|conditioned taste aversion (GO:0001661)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|long-term memory (GO:0007616)|male mating behavior (GO:0060179)|negative regulation of neuron apoptotic process (GO:0043524)|olfactory learning (GO:0008355)|pons maturation (GO:0021586)|positive regulation of apoptotic process (GO:0043065)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prepulse inhibition (GO:0060134)|propylene metabolic process (GO:0018964)|protein tetramerization (GO:0051262)|regulation of axonogenesis (GO:0050770)|regulation of dendrite morphogenesis (GO:0048814)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of membrane potential (GO:0042391)|regulation of respiratory gaseous exchange (GO:0043576)|regulation of synapse assembly (GO:0051963)|respiratory gaseous exchange (GO:0007585)|response to amphetamine (GO:0001975)|response to calcium ion (GO:0051592)|response to ethanol (GO:0045471)|response to fungicide (GO:0060992)|response to morphine (GO:0043278)|rhythmic process (GO:0048511)|sensory perception of pain (GO:0019233)|social behavior (GO:0035176)|suckling behavior (GO:0001967)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|visual learning (GO:0008542)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|dendrite membrane (GO:0032590)|dendritic spine (GO:0043197)|endoplasmic reticulum (GO:0005783)|excitatory synapse (GO:0060076)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)|synaptic cleft (GO:0043083)|synaptic vesicle (GO:0008021)|terminal bouton (GO:0043195)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate binding (GO:0016595)|glycine binding (GO:0016594)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|neurotransmitter binding (GO:0042165)|voltage-gated cation channel activity (GO:0022843)			NS(1)|breast(1)|endometrium(1)|kidney(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;6.87e-05)|Epithelial(140;0.00095)	Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Gabapentin(DB00996)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Orphenadrine(DB01173)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	GGTGAACAGCGAGGAGGAGGAGG	0.739																																					NSCLC(113;717 1653 2089 20474 37618)	ENST00000371561.3																			0				NS(1)|breast(1)|endometrium(1)|kidney(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						c.(1780-1782)del		glutamate receptor, ionotropic, N-methyl D-aspartate 1	L-Glutamic Acid(DB00142)|Orphenadrine(DB01173)		,,,,	95,4145		0,95,2025					,,,,	-5.9	1			22	193,8033		5,183,3925	no	coding,coding,coding,coding,coding	GRIN1	NM_021569.3,NM_007327.3,NM_001185091.1,NM_001185090.1,NM_000832.6	,,,,	5,278,5950	A1A1,A1R,RR		2.3462,2.2406,2.3103	,,,,	,,,,		288,12178				SO:0001651	inframe_deletion	2902				ionotropic glutamate receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|regulation of excitatory postsynaptic membrane potential|response to ethanol|visual learning	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane|synaptic vesicle|synaptosome	calcium ion binding|calmodulin binding|extracellular-glutamate-gated ion channel activity|glutamate binding|glycine binding	g.chr9:140056884_140056886delGAG		CCDS7031.1, CCDS7032.1, CCDS43910.1, CCDS55354.1, CCDS55355.1	9q34.3	2013-01-11			ENSG00000176884	ENSG00000176884		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4584	protein-coding gene	gene with protein product		138249	"N-methyl-D-aspartate receptor subunit NR1"	NMDAR1		1350383	Standard	NM_000832		Approved	GluN1	uc004cln.3	Q05586	OTTHUMG00000020976	ENST00000371561.3:c.1780_1782delGAG	9.37:g.140056893_140056895delGAG	ENSP00000360616:p.Glu598del					GRIN1_ENST00000371555.4_In_Frame_Del_p.E619del|GRIN1_ENST00000371553.3_In_Frame_Del_p.E619del|GRIN1_ENST00000350902.5_In_Frame_Del_p.E598del|GRIN1_ENST00000371559.4_In_Frame_Del_p.E598del|GRIN1_ENST00000371560.3_In_Frame_Del_p.E619del|GRIN1_ENST00000315048.3_In_Frame_Del_p.E598del|GRIN1_ENST00000371546.4_In_Frame_Del_p.E619del|GRIN1_ENST00000371550.4_In_Frame_Del_p.E598del|GRIN1_ENST00000471122.1_3'UTR	p.E598del	NM_007327.3	NP_015566.1	Q05586	NMDZ1_HUMAN	STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;6.87e-05)|Epithelial(140;0.00095)	13	2877_2879	+	all_cancers(76;0.0926)		598					A6NLK7|A6NLR1|C9K0X1|P35437|Q12867|Q12868|Q5VSF3|Q5VSF4|Q5VSF5|Q5VSF6|Q5VSF7|Q5VSF8|Q9UPF8|Q9UPF9	In_Frame_Del	DEL	ENST00000371561.3	37	c.1780_1782delGAG	CCDS7031.1																																																																																				0.739	GRIN1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000055267.3	NM_007327		8	53						8	53	---	---	---	---	-	140056886	GAG	-	140056884	7	5	223	1	0	1	0	1	0	0	0	0	6778	1059	37	0	1897	0	GRIN1	9	140056884	In_Frame_Del	DEL	GAG	TCGA-HC-7818-01A-11D-2114-08	44446227	140056884	1156547	21	10293											
RNF208	727800	broad.mit.edu	37	chr9	140115423	140115424	+	Frame_Shift_Ins	INS	-	-	C																															cccttccaaggcaggcatgtINScccccccacaggcctggttg																										TCGA-HC-7818-01A-11D-2114-08	TCGA-HC-7818-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e891ad9-b0bd-4fd7-9de1-33f5b0b1d241	906dec9a-0452-40a1-8563-163ca6be1abf	g.chr9:140115423_140115424insC	ENST00000392827.1	-	2	409_410	c.241_242insG	c.(241-243)gacfs	p.D81fs	RNF208_ENST00000391553.1_Frame_Shift_Ins_p.D81fs			Q9H0X6	RN208_HUMAN	ring finger protein 208	81					protein autoubiquitination (GO:0051865)		ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			lung(1)	1	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057)		GGCAGGCATGTCCCCCCCACAG	0.688																																						ENST00000392827.1																			0				lung(1)	1						c.(241-243)catfs		ring finger protein 208																																				SO:0001589	frameshift_variant	727800						zinc ion binding	g.chr9:140115423_140115424insC	AF416715	CCDS7037.2	9q34.3	2007-01-19				ENSG00000212864		"RING-type (C3HC4) zinc fingers"	25420	protein-coding gene	gene with protein product						11230166	Standard	NM_031297		Approved	DKFZP761H1710	uc004clz.2	Q9H0X6		ENST00000392827.1:c.242dupG	9.37:g.140115430_140115430dupC	ENSP00000376572:p.Asp81fs					RNF208_ENST00000391553.1_Frame_Shift_Ins_p.H81fs	p.H81fs			Q9H0X6	RN208_HUMAN	STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057)	2	409_410	-	all_cancers(76;0.0926)		81					A2BFA0	Frame_Shift_Ins	INS	ENST00000392827.1	37	c.241_242insG	CCDS7037.2																																																																																				0.688	RNF208-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254714.1	NM_031297		2	4						2	4	---	---	---	---	C	140115424	-	C	140115423	7	5	223	1	0	1	1	0	0	0	0	0	13475	1667	58	0	547	0	RNF208	9	140115423	Frame_Shift_Ins	INS	-	TCGA-HC-7818-01A-11D-2114-08	58539	140115423	1098008	22	10294											
GAD2	2572	broad.mit.edu	37	chr10	26559616	26559616	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acagctggaaccaccgtgtaCggagcatttgaccccctctt	9	9	9	14	2	1	1	0	1	1	0	1	3	1	3	4	2	4	3	4	2	2	3			TCGA-HC-7818-01A-11D-2114-08	TCGA-HC-7818-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e891ad9-b0bd-4fd7-9de1-33f5b0b1d241	906dec9a-0452-40a1-8563-163ca6be1abf	g.chr10:26559616C>T	ENST00000376261.3	+	10	1526	c.1023C>T	c.(1021-1023)taC>taT	p.Y341Y	GAD2_ENST00000259271.3_Silent_p.Y341Y	NM_001134366.1	NP_001127838.1	Q05329	DCE2_HUMAN	glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa)	341					glutamate decarboxylation to succinate (GO:0006540)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter secretion (GO:0007269)|response to drug (GO:0042493)|synaptic transmission (GO:0007268)	anchored component of membrane (GO:0031225)|axon (GO:0030424)|cell junction (GO:0030054)|clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane (GO:0061202)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|synaptic vesicle membrane (GO:0030672)	glutamate binding (GO:0016595)|glutamate decarboxylase activity (GO:0004351)|pyridoxal phosphate binding (GO:0030170)			central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(26)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						CCACCGTGTACGGAGCATTTG	0.478																																						ENST00000376261.3																			0				central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(26)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						c.(1021-1023)taC>taT		glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa)	L-Glutamic Acid(DB00142)						168	161	163					10																	26559616		2203	4300	6503	SO:0001819	synonymous_variant	2572				glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion	cell junction|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|Golgi membrane|presynaptic membrane	glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding	g.chr10:26559616C>T	AJ251501	CCDS7149.1	10p13-p11.2	2003-11-11	2002-08-29		ENSG00000136750	ENSG00000136750	4.1.1.15		4093	protein-coding gene	gene with protein product		138275	"glutamate decarboxylase 2 (pancreatic islets and brain, 65kD)"			2039509	Standard	NM_000818		Approved	GAD65	uc001isp.2	Q05329	OTTHUMG00000017836	ENST00000376261.3:c.1023C>T	10.37:g.26559616C>T						GAD2_ENST00000259271.3_Silent_p.Y341Y	p.Y341Y	NM_001134366.1	NP_001127838.1	Q05329	DCE2_HUMAN			10	1526	+			341					Q9UD87	Silent	SNP	ENST00000376261.3	37	c.1023C>T	CCDS7149.1																																																																																				0.478	GAD2-001	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047255.1	NM_000818		15	154	0	0	0	1	0	15	154					T	26559616	C	T	26559616	2	4	223	1	0	0	0	0	0	0	0	1	6180	547	19	1		1	GAD2	10	26559616	Silent	SNP	C	TCGA-HC-7818-01A-11D-2114-08		26559616	108975131	23	10295											
CDH23	64072	broad.mit.edu	37	chr10	73565668	73565668	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgaagactgcgggcaaccggGactgggagttcttcatcatc	9	9	13	10	2	3	2	2	1	1	1	4	4	3	4	1	3	2	2	1	3	2	2			TCGA-HC-7818-01A-11D-2114-08	TCGA-HC-7818-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e891ad9-b0bd-4fd7-9de1-33f5b0b1d241	906dec9a-0452-40a1-8563-163ca6be1abf	g.chr10:73565668G>T	ENST00000224721.6	+	55	7998	c.7993G>T	c.(7993-7995)Gac>Tac	p.D2665Y	CDH23_ENST00000398788.3_Missense_Mutation_p.D420Y|CDH23_ENST00000475158.1_3'UTR	NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	2660	Cadherin 25. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium ion transport (GO:0006816)|calcium-dependent cell-cell adhesion (GO:0016339)|cytosolic calcium ion homeostasis (GO:0051480)|equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						GGGCAACCGGGACTGGGAGTT	0.652																																						ENST00000224721.6																			0				NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						c.(7993-7995)Gac>Tac		cadherin-related 23							30	32	31					10																	73565668		2027	4194	6221	SO:0001583	missense	64072				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding	g.chr10:73565668G>T	AY010111	CCDS53540.1, CCDS73146.1	10q22.1	2014-08-08	2010-01-25		ENSG00000107736	ENSG00000107736		"Cadherins / Cadherin-related"	13733	protein-coding gene	gene with protein product	"cadherin-related family member 23"	605516	"cadherin related 23", "cadherin-like 23"	DFNB12, USH1D		11090341	Standard	NM_022124		Approved	CDHR23	uc001jrx.4	Q9H251	OTTHUMG00000019347	ENST00000224721.6:c.7993G>T	10.37:g.73565668G>T	ENSP00000224721:p.Asp2665Tyr					CDH23_ENST00000475158.1_3'UTR|CDH23_ENST00000398788.3_Missense_Mutation_p.D420Y	p.D2665Y	NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN			55	7998	+			2660			Cadherin 25.		C4IXS9|F6U049|Q5QGS1|Q5QGS2|Q5QGS5|Q5QGS6|Q5XKN2|Q6UWW1|Q96JL3|Q9H4K9	Missense_Mutation	SNP	ENST00000224721.6	37	c.7993G>T		.	.	.	.	.	.	.	.	.	.	G	36	5.641213	0.96693	.	.	ENSG00000107736	ENST00000398860;ENST00000398855;ENST00000224721;ENST00000398788	T	0.61040	0.14	5.57	5.57	0.84162	Cadherin (4);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.77525	0.4143	M	0.73962	2.25	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.78708	-0.2099	10	0.62326	D	0.03	.	19.5483	0.95308	0.0:0.0:1.0:0.0	.	2660;2660	E9PEX1;Q9H251	.;CAD23_HUMAN	Y	2665;2660;2663;420	ENSP00000381768:D420Y	ENSP00000224721:D2665Y	D	+	1	0	CDH23	73235674	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.375000	0.97178	2.616000	0.88540	0.544000	0.68410	GAC		0.652	CDH23-001	PUTATIVE	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000051227.4	NM_052836		3	31	1	0	1	1	1	3	31					T	73565668	G	T	73565668	3	4	223	1	0	0	0	0	1	0	0	0	3108	1174	41	5	8541	5	CDH23	10	73565668	Missense_Mutation	SNP	G	TCGA-HC-7818-01A-11D-2114-08	47006052	73565668	61969079	24	10296											
SLIT1	6585	broad.mit.edu	37	chr10	98806792	98806792	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttaaacatcccagtggcctcCaggatggaaatctcattgtt	11	12	8	10	0	1	0	1	0	1	0	4	2	3	2	3	3	1	1	3	3	3	3			TCGA-HC-7818-01A-11D-2114-08	TCGA-HC-7818-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e891ad9-b0bd-4fd7-9de1-33f5b0b1d241	906dec9a-0452-40a1-8563-163ca6be1abf	g.chr10:98806792C>T	ENST00000266058.4	-	17	1910	c.1665G>A	c.(1663-1665)ctG>ctA	p.L555L	SLIT1_ENST00000371070.4_Silent_p.L555L|ARHGAP19-SLIT1_ENST00000453547.2_3'UTR	NM_003061.2	NP_003052.2	O75093	SLIT1_HUMAN	slit homolog 1 (Drosophila)	555					axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|dorsal/ventral axon guidance (GO:0033563)|establishment of nucleus localization (GO:0040023)|forebrain morphogenesis (GO:0048853)|motor neuron axon guidance (GO:0008045)|negative chemotaxis (GO:0050919)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of synapse assembly (GO:0051964)|retinal ganglion cell axon guidance (GO:0031290)|spinal cord development (GO:0021510)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)	extracellular space (GO:0005615)	calcium ion binding (GO:0005509)|Roundabout binding (GO:0048495)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(37)|ovary(5)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	78		Colorectal(252;0.162)		Epithelial(162;2.02e-08)|all cancers(201;1.5e-06)		CAGTGGCCTCCAGGATGGAAA	0.423																																						ENST00000266058.4																			0				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(37)|ovary(5)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	78						c.(1663-1665)ctG>ctA		slit homolog 1 (Drosophila)							70	65	66					10																	98806792		2203	4300	6503	SO:0001819	synonymous_variant	6585				axon extension involved in axon guidance|forebrain morphogenesis|motor axon guidance|negative chemotaxis|negative regulation of synaptogenesis	cytoplasm|extracellular space	calcium ion binding|Roundabout binding	g.chr10:98806792C>T	AB011537	CCDS7453.1	10q23.3-q24	2008-08-01	2001-11-28		ENSG00000187122	ENSG00000187122			11085	protein-coding gene	gene with protein product		603742	"slit (Drosophila) homolog 1"	SLIL1		9693030, 9813312	Standard	NM_003061		Approved	slit1, MEGF4, Slit-1, SLIT3	uc001kmw.2	O75093	OTTHUMG00000018843	ENST00000266058.4:c.1665G>A	10.37:g.98806792C>T						ARHGAP19-SLIT1_ENST00000453547.2_3'UTR|SLIT1_ENST00000371070.4_Silent_p.L555L	p.L555L	NM_003061.2	NP_003052.2	O75093	SLIT1_HUMAN		Epithelial(162;2.02e-08)|all cancers(201;1.5e-06)	17	1910	-		Colorectal(252;0.162)	555					Q5T0V1|Q8WWZ2|Q9UIL7	Silent	SNP	ENST00000266058.4	37	c.1665G>A	CCDS7453.1																																																																																				0.423	SLIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049636.1	NM_003061		5	53	0	0	0	1	0	5	53					T	98806792	C	T	98806792	2	4	223	1	0	0	0	0	0	0	0	1	14739	581	21	3		3	SLIT1	10	98806792	Silent	SNP	C	TCGA-HC-7818-01A-11D-2114-08	25241124	98806792	36727955	25	10297											
PRMT3	10196	broad.mit.edu	37	chr11	20409624	20409624	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aactgtcggacagcggggacGaggccgcctgggaggatgag	9	4	19	9	4	0	1	0	1	0	0	1	6	0	5	2	6	2	0	2	6	1	0			TCGA-HC-7818-01A-11D-2114-08	TCGA-HC-7818-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e891ad9-b0bd-4fd7-9de1-33f5b0b1d241	906dec9a-0452-40a1-8563-163ca6be1abf	g.chr11:20409624G>T	ENST00000331079.6	+	2	305	c.88G>T	c.(88-90)Gag>Tag	p.E30*	PRMT3_ENST00000437750.2_Intron	NM_001145167.1|NM_005788.3	NP_001138639.1|NP_005779	O60678	ANM3_HUMAN	protein arginine methyltransferase 3	30					histone arginine methylation (GO:0034969)|negative regulation of protein ubiquitination (GO:0031397)|peptidyl-arginine methylation, to asymmetrical-dimethyl arginine (GO:0019919)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|ribosome (GO:0005840)	histone-arginine N-methyltransferase activity (GO:0008469)|metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)|modified amino acid binding (GO:0072341)|protein-arginine N-methyltransferase activity (GO:0016274)|protein-arginine omega-N asymmetric methyltransferase activity (GO:0035242)			endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|prostate(1)	17						CAGCGGGGACGAGGCCGCCTG	0.647																																						ENST00000331079.6																			0				endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|prostate(1)	17						c.(88-90)Gag>Tag		protein arginine methyltransferase 3							71	65	67					11																	20409624		2203	4300	6503	SO:0001587	stop_gained	10196						zinc ion binding	g.chr11:20409624G>T	AF059531	CCDS7853.1, CCDS44554.1	11p15.1	2008-02-05	2006-02-16	2006-02-16	ENSG00000185238	ENSG00000185238		"Protein arginine methyltransferases"	30163	protein-coding gene	gene with protein product		603190	"HMT1 hnRNP methyltransferase-like 3 (S. cerevisiae)"	HRMT1L3		9642256	Standard	NM_005788		Approved		uc001mqb.3	O60678	OTTHUMG00000166022	ENST00000331079.6:c.88G>T	11.37:g.20409624G>T	ENSP00000331879:p.Glu30*					PRMT3_ENST00000437750.2_Intron	p.E30*	NM_001145167.1|NM_005788.3	NP_001138639.1|NP_005779.1	O60678	ANM3_HUMAN			2	305	+			30					B4DUC7	Nonsense_Mutation	SNP	ENST00000331079.6	37	c.88G>T	CCDS7853.1	.	.	.	.	.	.	.	.	.	.	G	39	7.880182	0.98539	.	.	ENSG00000185238	ENST00000331079;ENST00000541255	.	.	.	5.93	5.03	0.67393	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.45353	T	0.12	.	14.9455	0.71026	0.0693:0.0:0.9307:0.0	.	.	.	.	X	30	.	ENSP00000331879:E30X	E	+	1	0	PRMT3	20366200	1.000000	0.71417	1.000000	0.80357	0.906000	0.53458	5.519000	0.67074	1.513000	0.48852	0.655000	0.94253	GAG		0.647	PRMT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387489.1	NM_005788		7	53	1	0	2.0095e-06	1	2.35258e-06	7	53					T	20409624	G	T	20409624	4	4	223	1	0	0	0	0	0	1	0	0	12538	1059	37	5	94	5	PRMT3	11	20409624	Nonsense_Mutation	SNP	G	TCGA-HC-7818-01A-11D-2114-08		20409624	114596892	26	10298											
CARD16	114769	broad.mit.edu	37	chr11	104915359	104915359	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acccatggaatggataaacaGctttctcttctccttcagga	11	12	7	11	0	3	0	1	0	2	0	5	3	3	3	2	3	2	1	2	3	3	4			TCGA-HC-7818-01A-11D-2114-08	TCGA-HC-7818-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e891ad9-b0bd-4fd7-9de1-33f5b0b1d241	906dec9a-0452-40a1-8563-163ca6be1abf	g.chr11:104915359G>T	ENST00000375706.2	-	2	51	c.34C>A	c.(34-36)Ctg>Atg	p.L12M	CARD16_ENST00000375704.3_Missense_Mutation_p.L12M|CASP1_ENST00000598974.1_Intron|CASP1_ENST00000594519.1_Intron|CASP1_ENST00000593315.1_Intron|CASP1_ENST00000415981.2_Intron|CARD16_ENST00000525374.1_Missense_Mutation_p.L12M	NM_001017534.1	NP_001017534.1	Q5EG05	CAR16_HUMAN	caspase recruitment domain family, member 16	12	CARD. {ECO:0000255|PROSITE- ProRule:PRU00046}.				regulation of apoptotic process (GO:0042981)		cysteine-type endopeptidase inhibitor activity (GO:0004869)			endometrium(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	11						TGGATAAACAGCTTTCTCTTC	0.418																																						ENST00000375706.2																			0				endometrium(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	11						c.(34-36)Ctg>Atg		caspase recruitment domain family, member 16							302	278	286					11																	104915359		2202	4299	6501	SO:0001583	missense	114769							g.chr11:104915359G>T		CCDS31661.1, CCDS41705.1	11q23	2008-09-15				ENSG00000204397			33701	protein-coding gene	gene with protein product		615680				11432859, 11536016	Standard	NM_052889		Approved	COP1, COP, PSEUDO-ICE		Q5EG05		ENST00000375706.2:c.34C>A	11.37:g.104915359G>T	ENSP00000364858:p.Leu12Met					CASP1_ENST00000598974.1_Intron|CASP1_ENST00000594519.1_Intron|CASP1_ENST00000593315.1_Intron|CASP1_ENST00000415981.2_Intron|CARD16_ENST00000375704.3_Missense_Mutation_p.L12M|CARD16_ENST00000525374.1_Missense_Mutation_p.L12M	p.L12M	NM_001017534.1	NP_001017534.1					2	51	-								Q96RJ9	Missense_Mutation	SNP	ENST00000375706.2	37	c.34C>A	CCDS31661.1	.	.	.	.	.	.	.	.	.	.	.	11.12	1.543826	0.27563	.	.	ENSG00000204397	ENST00000375706;ENST00000375704;ENST00000525374	T;T;T	0.21191	2.02;2.02;2.02	3.34	-0.194	0.13240	DEATH-like (2);Caspase Recruitment (3);	1.492930	0.04382	U	0.360924	T	0.40222	0.1108	M	0.77820	2.39	0.09310	N	1	D;P	0.53619	0.961;0.951	P;P	0.60682	0.878;0.812	T	0.16571	-1.0398	10	0.45353	T	0.12	.	3.5662	0.07900	0.1321:0.0:0.4331:0.4348	.	12;12	Q5EG05;Q5EG05-2	CAR16_HUMAN;.	M	12	ENSP00000364858:L12M;ENSP00000364856:L12M;ENSP00000433700:L12M	ENSP00000364856:L12M	L	-	1	2	CARD16	104420569	0.000000	0.05858	0.001000	0.08648	0.017000	0.09413	-0.586000	0.05787	0.191000	0.20236	-0.439000	0.05793	CTG		0.418	CARD16-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000388147.1			21	220	1	0	1.55469e-16	1	2.0169e-16	21	220					T	104915359	G	T	104915359	3	4	223	1	0	0	0	0	1	0	0	0	2647	962	34	5	591	5	CARD16	11	104915359	Missense_Mutation	SNP	G	TCGA-HC-7818-01A-11D-2114-08	84505735	104915359	30091157	27	10299											
DSCAML1	57453	broad.mit.edu	37	chr11	117332280	117332280	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cacgtcagaagtgatggacaGggcccggacgttctcagggg	9	6	16	10	3	2	2	2	1	1	1	3	4	2	4	1	5	0	1	1	5	1	1			TCGA-HC-7818-01A-11D-2114-08	TCGA-HC-7818-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e891ad9-b0bd-4fd7-9de1-33f5b0b1d241	906dec9a-0452-40a1-8563-163ca6be1abf	g.chr11:117332280G>A	ENST00000321322.6	-	18	3479	c.3478C>T	c.(3478-3480)Ctg>Ttg	p.L1160L	DSCAML1_ENST00000527706.1_Silent_p.L890L	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	1100	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axonogenesis (GO:0007409)|brain development (GO:0007420)|cell fate determination (GO:0001709)|central nervous system development (GO:0007417)|dendrite self-avoidance (GO:0070593)|dorsal/ventral pattern formation (GO:0009953)|embryonic skeletal system morphogenesis (GO:0048704)|homophilic cell adhesion (GO:0007156)|negative regulation of cell adhesion (GO:0007162)	cell surface (GO:0009986)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		GTGATGGACAGGGCCCGGACG	0.607																																						ENST00000321322.6																			0				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110						c.(3478-3480)Ctg>Ttg		Down syndrome cell adhesion molecule like 1							59	62	61					11																	117332280		2201	4296	6497	SO:0001819	synonymous_variant	57453				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity	g.chr11:117332280G>A		CCDS8384.1	11q22.2-q22.3	2013-02-11			ENSG00000177103	ENSG00000177103		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	14656	protein-coding gene	gene with protein product		611782				11453658	Standard	NM_020693		Approved	KIAA1132	uc001prh.1	Q8TD84	OTTHUMG00000167071	ENST00000321322.6:c.3478C>T	11.37:g.117332280G>A						DSCAML1_ENST00000527706.1_Silent_p.L890L	p.L1160L	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)	18	3479	-	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)	1100			Fibronectin type-III 3.		Q76MU9|Q8IZY3|Q8IZY4|Q8WXU7|Q9ULT7	Silent	SNP	ENST00000321322.6	37	c.3478C>T	CCDS8384.1																																																																																				0.607	DSCAML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392907.2	NM_020693		3	89	0	0	0	1	0	3	89					A	117332280	G	A	117332280	2	1	223	1	0	0	0	0	0	0	0	1	4769	991	35	3		3	DSCAML1	11	117332280	Silent	SNP	G	TCGA-HC-7818-01A-11D-2114-08	12416921	117332280	17674236	28	10300											
KLHDC5	57542	broad.mit.edu	37	chr12	27934042	27934042	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ctacctcttcatagtgggcgGgtacaggatcactagccagg	9	9	12	11	1	3	0	2	0	1	0	3	1	3	1	2	4	3	1	2	4	4	5			TCGA-HC-7818-01A-11D-2114-08	TCGA-HC-7818-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e891ad9-b0bd-4fd7-9de1-33f5b0b1d241	906dec9a-0452-40a1-8563-163ca6be1abf	g.chr12:27934042G>A	ENST00000381271.2	+	1	1090	c.779G>A	c.(778-780)gGg>gAg	p.G260E	RP11-860B13.1_ENST00000545904.1_RNA	NM_020782.1	NP_065833.1	Q9P2K6	KLH42_HUMAN	kelch-like family member 42	260					mitotic nuclear division (GO:0007067)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein polyubiquitination (GO:0000209)|regulation of microtubule-based process (GO:0032886)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)											ATAGTGGGCGGGTACAGGATC	0.582																																						ENST00000381271.2																			0											c.(778-780)gGg>gAg		kelch-like family member 42							72	61	65					12																	27934042		2203	4300	6503	SO:0001583	missense	57542							g.chr12:27934042G>A	AB037761	CCDS31763.1	12p11.22	2013-04-24	2013-02-22	2013-01-30	ENSG00000087448	ENSG00000087448		"Kelch-like"	29252	protein-coding gene	gene with protein product			"kelch domain containing 5"	KLHDC5		19261606	Standard	NM_020782		Approved	KIAA1340, Ctb9	uc001rij.3	Q9P2K6	OTTHUMG00000169217	ENST00000381271.2:c.779G>A	12.37:g.27934042G>A	ENSP00000370671:p.Gly260Glu						p.G260E	NM_020782.1	NP_065833.1					1	1090	+								Q2VPK1|Q8N334	Missense_Mutation	SNP	ENST00000381271.2	37	c.779G>A	CCDS31763.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.282898	0.80692	.	.	ENSG00000087448	ENST00000381271	D	0.99494	-6.01	4.77	3.88	0.44766	Kelch-type beta propeller (1);	0.060458	0.64402	N	0.000003	D	0.99287	0.9751	H	0.97023	3.925	0.58432	D	0.999993	B	0.20261	0.043	B	0.29077	0.098	D	0.99931	1.1320	10	0.87932	D	0	.	12.0574	0.53544	0.0827:0.0:0.9173:0.0	.	260	Q9P2K6	KLDC5_HUMAN	E	260	ENSP00000370671:G260E	ENSP00000370671:G260E	G	+	2	0	KLHDC5	27825309	1.000000	0.71417	0.993000	0.49108	0.990000	0.78478	8.965000	0.93393	1.233000	0.43693	-0.218000	0.12543	GGG		0.582	KLHL42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402904.1	NM_020782		3	41	0	0	0	1	0	3	41					A	27934042	G	A	27934042	3	1	223	1	0	0	0	0	1	0	0	0	8359	1232	43	3	781	3	KLHDC5	12	27934042	Missense_Mutation	SNP	G	TCGA-HC-7818-01A-11D-2114-08		27934042	105917853	29	10301											
TARBP2	8620	broad.mit.edu	37	chr12	53897517	53897517	+	IGR	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttctttttctcccctagactCttcactgcctgaggacattc	6	16	5	14	0	4	2	1	1	3	1	6	3	4	3	3	1	1	0	3	1	1	6			TCGA-HC-7818-01A-11D-2114-08	TCGA-HC-7818-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e891ad9-b0bd-4fd7-9de1-33f5b0b1d241	906dec9a-0452-40a1-8563-163ca6be1abf	g.chr12:53897517C>G	ENST00000267017.3	-	0	592				TARBP2_ENST00000266987.2_Missense_Mutation_p.S116C|TARBP2_ENST00000394357.2_Missense_Mutation_p.S95C|RP11-793H13.11_ENST00000602306.1_RNA|TARBP2_ENST00000456234.2_Missense_Mutation_p.S95C|TARBP2_ENST00000552857.1_Missense_Mutation_p.S25C	NM_003717.2	NP_003708.1	O15130	NPFF_HUMAN	neuropeptide FF-amide peptide precursor						acute inflammatory response to antigenic stimulus (GO:0002438)|maternal process involved in female pregnancy (GO:0060135)|negative regulation of appetite (GO:0032099)|negative regulation of heart rate (GO:0010459)|negative regulation of insulin secretion (GO:0046676)|neuropeptide signaling pathway (GO:0007218)|positive regulation of blood pressure (GO:0045777)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of membrane depolarization (GO:0003254)|regulation of sensory perception of pain (GO:0051930)|response to drug (GO:0042493)|response to morphine (GO:0043278)|somatostatin secretion (GO:0070253)|spinal cord development (GO:0021510)|synaptic transmission (GO:0007268)|vasopressin secretion (GO:0030103)	axon terminus (GO:0043679)|dendrite (GO:0030425)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|perikaryon (GO:0043204)|vesicle (GO:0031982)	receptor binding (GO:0005102)			haematopoietic_and_lymphoid_tissue(1)|prostate(1)|urinary_tract(1)	3						CCCCTAGACTCTTCACTGCCT	0.557																																						ENST00000266987.2																			0				central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(3)	10						c.(346-348)tCt>tGt		TAR (HIV-1) RNA binding protein 2							118	119	118					12																	53897517		2203	4300	6503	SO:0001628	intergenic_variant	6895				miRNA loading onto RISC involved in gene silencing by miRNA|negative regulation of defense response to virus by host|negative regulation of protein kinase activity|positive regulation of viral genome replication|pre-miRNA processing|production of siRNA involved in RNA interference|regulation of transcription from RNA polymerase II promoter|regulation of translation|regulation of viral transcription|targeting of mRNA for destruction involved in RNA interference	cytosol|nucleus|perinuclear region of cytoplasm|RNA-induced silencing complex	double-stranded RNA binding|protein homodimerization activity|siRNA binding	g.chr12:53897517C>G	AF005271	CCDS8862.1	12q13.13	2013-02-26			ENSG00000139574	ENSG00000139574		"Endogenous ligands"	7901	protein-coding gene	gene with protein product		604643				9224703	Standard	NM_003717		Approved	FMRFAL	uc001sdw.1	O15130	OTTHUMG00000169856		12.37:g.53897517C>G						TARBP2_ENST00000394357.2_Missense_Mutation_p.S95C|TARBP2_ENST00000456234.2_Missense_Mutation_p.S95C|TARBP2_ENST00000552857.1_Missense_Mutation_p.S25C	p.S116C	NM_134323.1	NP_599150.1	Q15633	TRBP2_HUMAN			4	830	+			116					Q3SXL4	Missense_Mutation	SNP	ENST00000267017.3	37	c.347C>G	CCDS8862.1	.	.	.	.	.	.	.	.	.	.	C	19.08	3.758365	0.69763	.	.	ENSG00000139546	ENST00000266987;ENST00000456234;ENST00000552857;ENST00000549610;ENST00000394357;ENST00000550407	T;T;T	0.66099	-0.19;-0.19;-0.19	3.72	3.72	0.42706	.	0.652995	0.13775	U	0.363636	T	0.60261	0.2255	N	0.08118	0	0.44454	D	0.997383	D;D;D	0.76494	0.998;0.999;0.992	D;D;P	0.79784	0.993;0.984;0.869	T	0.63444	-0.6636	10	0.56958	D	0.05	-9.6576	11.2699	0.49133	0.0:1.0:0.0:0.0	.	116;116;116	F8VWR8;A8K3X2;Q15633	.;.;TRBP2_HUMAN	C	116;95;25;116;95;17	ENSP00000266987:S116C;ENSP00000416077:S95C;ENSP00000377885:S95C	ENSP00000266987:S116C	S	+	2	0	TARBP2	52183784	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.177000	0.50871	2.359000	0.80004	0.591000	0.81541	TCT		0.557	NPFF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406301.1	NM_003717		5	127	0	0	0	1	0	5	127					G	53897517	C	G	53897517	1	3	223	0	1	0	0	0	0	0	0	0	15553	913	32	5		5	TARBP2	12	53897517	IGR	SNP	C	TCGA-HC-7818-01A-11D-2114-08	25963475	53897517	79954378	30	10302											
GPR84	53831	broad.mit.edu	37	chr12	54757587	54757587	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgcaacataacgatagcccaGcacagactcatggtagcagg	14	6	10	11	1	1	1	1	0	0	1	1	2	1	1	1	2	6	4	1	2	4	3			TCGA-HC-7818-01A-11D-2114-08	TCGA-HC-7818-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e891ad9-b0bd-4fd7-9de1-33f5b0b1d241	906dec9a-0452-40a1-8563-163ca6be1abf	g.chr12:54757587G>A	ENST00000551809.1	-	1	684	c.49C>T	c.(49-51)Ctg>Ttg	p.L17L	GPR84_ENST00000267015.3_Silent_p.L17L|RP11-753H16.3_ENST00000550474.1_RNA|RP11-753H16.5_ENST00000552785.1_RNA			Q9NQS5	GPR84_HUMAN	G protein-coupled receptor 84	17						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	G-protein coupled receptor activity (GO:0004930)			NS(1)|breast(2)|kidney(2)|large_intestine(6)|lung(5)|skin(1)|urinary_tract(1)	18						CGATAGCCCAGCACAGACTCA	0.557																																						ENST00000551809.1																			0				NS(1)|breast(2)|kidney(2)|large_intestine(6)|lung(5)|skin(1)|urinary_tract(1)	18						c.(49-51)Ctg>Ttg		G protein-coupled receptor 84							111	81	91					12																	54757587		2203	4300	6503	SO:0001819	synonymous_variant	0					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr12:54757587G>A	AF237762	CCDS8878.1	12q13.13	2012-08-20						"GPCR / Class A : Fatty acid receptors"	4535	protein-coding gene	gene with protein product		606383				11273702	Standard	NM_020370		Approved	EX33	uc001sfu.3	Q9NQS5		ENST00000551809.1:c.49C>T	12.37:g.54757587G>A						GPR84_ENST00000267015.3_Silent_p.L17L|RP11-753H16.5_ENST00000552785.1_RNA|RP11-753H16.3_ENST00000550474.1_RNA	p.L17L			Q9NQS5	GPR84_HUMAN			1	684	-			17					B6V9G7	Silent	SNP	ENST00000551809.1	37	c.49C>T	CCDS8878.1																																																																																				0.557	GPR84-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406156.1			3	39	0	0	0	1	0	3	39					A	54757587	G	A	54757587	2	1	223	1	0	0	0	0	0	0	0	1	6714	962	34	3		3	GPR84	12	54757587	Silent	SNP	G	TCGA-HC-7818-01A-11D-2114-08	860070	54757587	79094308	31	10303											
MGAT4C	25834	broad.mit.edu	37	chr12	86374058	86374058	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatcctggaccatggcatcaCgccaggaagaattaaagtct	13	9	9	10	1	2	1	1	0	1	1	3	3	3	3	3	3	0	1	3	3	5	2			TCGA-HC-7818-01A-11D-2114-08	TCGA-HC-7818-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e891ad9-b0bd-4fd7-9de1-33f5b0b1d241	906dec9a-0452-40a1-8563-163ca6be1abf	g.chr12:86374058C>T	ENST00000604798.1	-	8	1650	c.446G>A	c.(445-447)cGt>cAt	p.R149H	MGAT4C_ENST00000548651.1_Missense_Mutation_p.R149H|MGAT4C_ENST00000393205.2_Missense_Mutation_p.R178H|MGAT4C_ENST00000552435.2_Intron|MGAT4C_ENST00000549405.2_Missense_Mutation_p.R149H|MGAT4C_ENST00000332156.1_Missense_Mutation_p.R149H|MGAT4C_ENST00000552808.2_Missense_Mutation_p.R149H			Q9UBM8	MGT4C_HUMAN	MGAT4 family, member C	149					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity (GO:0008454)|metal ion binding (GO:0046872)	p.R149H(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						CATGGCATCACGCCAGGAAGA	0.398																																						ENST00000604798.1																			1	Substitution - Missense(1)	p.R149H(1)	lung(1)	breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						c.(445-447)cGt>cAt		mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme C (putative)							83	81	82					12																	86374058		2203	4300	6503	SO:0001583	missense	25834				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity|metal ion binding	g.chr12:86374058C>T		CCDS9030.1	12q21	2014-07-14	2014-07-14		ENSG00000182050	ENSG00000182050		"Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"	30871	protein-coding gene	gene with protein product		607385	"mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme C (putative)"			10570912	Standard	NM_013244		Approved	HGNT-IV-H	uc001tal.4	Q9UBM8	OTTHUMG00000169846	ENST00000604798.1:c.446G>A	12.37:g.86374058C>T	ENSP00000474896:p.Arg149His					MGAT4C_ENST00000393205.2_Missense_Mutation_p.R178H|MGAT4C_ENST00000548651.1_Missense_Mutation_p.R149H|MGAT4C_ENST00000332156.1_Missense_Mutation_p.R149H|MGAT4C_ENST00000552435.2_Intron|MGAT4C_ENST00000549405.2_Missense_Mutation_p.R149H|MGAT4C_ENST00000552808.2_Missense_Mutation_p.R149H	p.R149H			Q9UBM8	MGT4C_HUMAN			8	1650	-			149					B4DRH2|Q4G199|Q9UIU5	Missense_Mutation	SNP	ENST00000604798.1	37	c.446G>A	CCDS9030.1	.	.	.	.	.	.	.	.	.	.	C	13.02	2.111685	0.37242	.	.	ENSG00000182050	ENST00000332156;ENST00000393205;ENST00000549405;ENST00000550460;ENST00000552808;ENST00000548651;ENST00000547225	D;D;D;D;D;D	0.85556	-2.0;-2.0;-2.0;-2.0;-2.0;-2.0	5.58	2.62	0.31277	.	0.169518	0.52532	D	0.000061	D	0.82568	0.5065	L	0.38175	1.15	0.40016	D	0.975341	D;D	0.57571	0.98;0.965	P;P	0.52109	0.69;0.69	T	0.78196	-0.2298	10	0.14252	T	0.57	-17.5819	14.8367	0.70190	0.3749:0.6251:0.0:0.0	.	178;149	B4DRH2;Q9UBM8	.;MGT4C_HUMAN	H	149;178;149;149;149;149;149	ENSP00000331664:R149H;ENSP00000376900:R178H;ENSP00000449022:R149H;ENSP00000446647:R149H;ENSP00000447253:R149H;ENSP00000449172:R149H	ENSP00000331664:R149H	R	-	2	0	MGAT4C	84898189	1.000000	0.71417	0.998000	0.56505	0.018000	0.09664	6.064000	0.71169	0.683000	0.31428	-0.169000	0.13324	CGT		0.398	MGAT4C-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406212.2	NM_013244		7	77	0	0	0	1	0	7	77					T	86374058	C	T	86374058	3	4	223	1	0	0	0	0	1	0	0	0	9547	536	19	1	994	1	MGAT4C	12	86374058	Missense_Mutation	SNP	C	TCGA-HC-7818-01A-11D-2114-08	31616471	86374058	47477837	32	10304											
ZBTB4	57659	broad.mit.edu	37	chr17	7366047	7366047	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccggcccgggagctgtgggAgcccccaccgtgggcctctt	3	7	15	16	3	1	0	0	0	1	0	2	2	2	2	6	4	2	1	6	4	0	1	rs560043534		TCGA-HC-7818-01A-11D-2114-08	TCGA-HC-7818-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e891ad9-b0bd-4fd7-9de1-33f5b0b1d241	906dec9a-0452-40a1-8563-163ca6be1abf	g.chr17:7366047A>C	ENST00000311403.4	-	4	2593	c.2254T>G	c.(2254-2256)Tcc>Gcc	p.S752A	ZBTB4_ENST00000380599.4_Missense_Mutation_p.S752A	NM_020899.3	NP_065950.2	Q9P1Z0	ZBTB4_HUMAN	zinc finger and BTB domain containing 4	752					cellular response to DNA damage stimulus (GO:0006974)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|methyl-CpG binding (GO:0008327)|methyl-CpNpG binding (GO:0010428)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|sequence-specific DNA binding (GO:0043565)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(3)|skin(6)	36		Colorectal(1115;3.46e-05)|Myeloproliferative disorder(207;0.0255)		COAD - Colon adenocarcinoma(228;4.1e-06)|READ - Rectum adenocarcinoma(115;0.0642)		GAGCTGTGGGAGCCCCCACCG	0.701													A|||	1	0.000199681	0	0	5008	,	,		13515	0.001		0	False		,,,				2504	0					ENST00000311403.4																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(3)|skin(6)	36						c.(2254-2256)Tcc>Gcc		zinc finger and BTB domain containing 4							33	39	37					17																	7366047		2082	4128	6210	SO:0001583	missense	57659				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr17:7366047A>C	AB040971	CCDS11107.1	17p13.2	2013-01-09			ENSG00000174282	ENSG00000174282		"-", "BTB/POZ domain containing", "Zinc fingers, C2H2-type"	23847	protein-coding gene	gene with protein product		612308				12477932	Standard	NM_020899		Approved	KIAA1538, KAISO-L1, ZNF903	uc002ghd.4	Q9P1Z0	OTTHUMG00000108137	ENST00000311403.4:c.2254T>G	17.37:g.7366047A>C	ENSP00000307858:p.Ser752Ala					ZBTB4_ENST00000380599.4_Missense_Mutation_p.S752A	p.S752A	NM_020899.3	NP_065950.2	Q9P1Z0	ZBTB4_HUMAN		COAD - Colon adenocarcinoma(228;4.1e-06)|READ - Rectum adenocarcinoma(115;0.0642)	4	2593	-		Colorectal(1115;3.46e-05)|Myeloproliferative disorder(207;0.0255)	752					B3KVL6|Q7Z697|Q86XJ4|Q8N4V8	Missense_Mutation	SNP	ENST00000311403.4	37	c.2254T>G	CCDS11107.1	.	.	.	.	.	.	.	.	.	.	A	10.24	1.295217	0.23564	.	.	ENSG00000174282	ENST00000311403;ENST00000380599	T;T	0.03920	3.76;3.76	5.01	1.35	0.21983	Zinc finger, C2H2 (1);	0.528672	0.18016	N	0.154401	T	0.01940	0.0061	N	0.04203	-0.255	0.19575	N	0.999962	B	0.18461	0.028	B	0.14578	0.011	T	0.43458	-0.9390	10	0.54805	T	0.06	-11.6855	0.6641	0.00848	0.4788:0.1585:0.1909:0.1718	.	752	Q9P1Z0	ZBTB4_HUMAN	A	752	ENSP00000307858:S752A;ENSP00000369973:S752A	ENSP00000307858:S752A	S	-	1	0	ZBTB4	7306771	0.987000	0.35691	0.994000	0.49952	0.859000	0.49053	0.395000	0.20850	0.397000	0.25310	0.482000	0.46254	TCC		0.701	ZBTB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226940.2	NM_020899		4	83	0	0	0	1	0	4	83					C	7366047	A	C	7366047	3	2	223	1	0	0	0	0	1	0	0	0	17538	304	11	5	791	5	ZBTB4	17	7366047	Missense_Mutation	SNP	A	TCGA-HC-7818-01A-11D-2114-08		7366047	73829163	33	10305											
MYH2	4620	broad.mit.edu	37	chr17	10442558	10442558	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagcaatgtccaagaccccGatgaagtactgcctgggctg	10	7	11	13	1	0	2	0	1	0	1	1	3	1	2	5	1	3	3	5	1	4	1			TCGA-HC-7818-01A-11D-2114-08	TCGA-HC-7818-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e891ad9-b0bd-4fd7-9de1-33f5b0b1d241	906dec9a-0452-40a1-8563-163ca6be1abf	g.chr17:10442558G>T	ENST00000245503.5	-	14	1764	c.1380C>A	c.(1378-1380)atC>atA	p.I460I	MYH2_ENST00000532183.2_Silent_p.I460I|RP11-799N11.1_ENST00000399342.2_RNA|CTC-297N7.11_ENST00000587182.2_RNA|MYH2_ENST00000397183.2_Silent_p.I460I	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	460	Myosin motor.				Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|plasma membrane repair (GO:0001778)|response to activity (GO:0014823)	A band (GO:0031672)|actomyosin contractile ring (GO:0005826)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|protein complex (GO:0043234)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)	p.I460M(1)		NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						CCAAGACCCCGATGAAGTACT	0.478																																						ENST00000245503.5																			1	Substitution - Missense(1)	p.I460M(1)	lung(1)	NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						c.(1378-1380)atC>atA		myosin, heavy chain 2, skeletal muscle, adult							154	150	151					17																	10442558		2203	4300	6503	SO:0001819	synonymous_variant	4620				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr17:10442558G>T		CCDS11156.1	17p13.1	2014-02-04	2006-09-29		ENSG00000125414	ENSG00000125414		"Myosins / Myosin superfamily : Class II"	7572	protein-coding gene	gene with protein product		160740	"myosin, heavy polypeptide 2, skeletal muscle, adult", "inclusion body myopathy 3, autosomal dominant"	IBM3		7545970, 11889243	Standard	NM_001100112		Approved	MYH2A, MYHSA2, MyHC-IIa, MYHas8, MyHC-2A	uc010coi.3	Q9UKX2	OTTHUMG00000130363	ENST00000245503.5:c.1380C>A	17.37:g.10442558G>T						MYH2_ENST00000397183.2_Silent_p.I460I|CTC-297N7.7_ENST00000587182.1_RNA|MYH2_ENST00000532183.1_Silent_p.I460I	p.I460I	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN			14	1764	-			460			Myosin head-like.		A0AVL4|Q14322|Q16229|Q567P6|Q86T56	Silent	SNP	ENST00000245503.5	37	c.1380C>A	CCDS11156.1																																																																																				0.478	MYH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252726.3	NM_017534		7	196	1	0	2.27111e-07	1	2.79521e-07	7	196					T	10442558	G	T	10442558	2	4	223	1	0	0	0	0	0	0	0	1	10035	1048	37	5		5	MYH2	17	10442558	Silent	SNP	G	TCGA-HC-7818-01A-11D-2114-08	3076511	10442558	70752652	34	10306											
LHX1	3975	broad.mit.edu	37	chr17	35295534	35295534	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaaaaggcccatcctggacCgctttctcttgaacgtgctg	8	10	10	13	2	1	1	0	1	1	0	3	2	2	2	3	2	2	3	3	2	3	2			TCGA-HC-7818-01A-11D-2114-08	TCGA-HC-7818-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e891ad9-b0bd-4fd7-9de1-33f5b0b1d241	906dec9a-0452-40a1-8563-163ca6be1abf	g.chr17:35295534C>A	ENST00000254457.5	+	1	1451	c.40C>A	c.(40-42)Cgc>Agc	p.R14S	RP11-445F12.1_ENST00000529264.1_RNA|RP11-445F12.1_ENST00000528383.1_RNA|RP11-445F12.1_ENST00000532387.2_RNA|RP11-445F12.2_ENST00000607336.1_RNA|RP11-445F12.1_ENST00000525111.1_RNA	NM_005568.3	NP_005559.2	P48742	LHX1_HUMAN	LIM homeobox 1	14	LIM zinc-binding 1. {ECO:0000255|PROSITE- ProRule:PRU00125}.				anatomical structure formation involved in morphogenesis (GO:0048646)|anatomical structure morphogenesis (GO:0009653)|anterior/posterior axis specification (GO:0009948)|anterior/posterior pattern specification (GO:0009952)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell-cell signaling (GO:0007267)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cerebellar Purkinje cell differentiation (GO:0021702)|cerebellar Purkinje cell-granule cell precursor cell signaling involved in regulation of granule cell precursor cell proliferation (GO:0021937)|cerebellum development (GO:0021549)|cervix development (GO:0060067)|comma-shaped body morphogenesis (GO:0072049)|dorsal/ventral pattern formation (GO:0009953)|ectoderm formation (GO:0001705)|embryonic pattern specification (GO:0009880)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|embryonic viscerocranium morphogenesis (GO:0048703)|endoderm formation (GO:0001706)|epithelium development (GO:0060429)|forebrain regionalization (GO:0021871)|gastrulation with mouth forming second (GO:0001702)|head development (GO:0060322)|horizontal cell localization (GO:0035852)|kidney development (GO:0001822)|lateral motor column neuron migration (GO:0097477)|mesonephric duct development (GO:0072177)|metanephric comma-shaped body morphogenesis (GO:0072278)|metanephric glomerulus development (GO:0072224)|metanephric part of ureteric bud development (GO:0035502)|metanephric renal vesicle morphogenesis (GO:0072283)|metanephric S-shaped body morphogenesis (GO:0072284)|motor neuron axon guidance (GO:0008045)|negative regulation of transcription, DNA-templated (GO:0045892)|nephric duct elongation (GO:0035849)|nephric duct morphogenesis (GO:0072178)|nervous system development (GO:0007399)|organ morphogenesis (GO:0009887)|oviduct development (GO:0060066)|oviduct epithelium development (GO:0035846)|paramesonephric duct development (GO:0061205)|pattern specification process (GO:0007389)|positive regulation of anterior head development (GO:2000744)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of embryonic development (GO:0040019)|positive regulation of gastrulation (GO:2000543)|positive regulation of nephron tubule epithelial cell differentiation (GO:2000768)|positive regulation of transcription, DNA-templated (GO:0045893)|post-embryonic development (GO:0009791)|primitive streak formation (GO:0090009)|pronephros development (GO:0048793)|regulation of gene expression (GO:0010468)|renal vesicle morphogenesis (GO:0072077)|retina layer formation (GO:0010842)|S-shaped body morphogenesis (GO:0072050)|somite rostral/caudal axis specification (GO:0032525)|spinal cord association neuron differentiation (GO:0021527)|telencephalon development (GO:0021537)|transcription from RNA polymerase II promoter (GO:0006366)|ureteric bud development (GO:0001657)|urogenital system development (GO:0001655)|uterine epithelium development (GO:0035847)|uterus development (GO:0060065)|vagina development (GO:0060068)|ventral spinal cord development (GO:0021517)	nucleus (GO:0005634)|protein complex (GO:0043234)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(1)	16		Breast(25;0.00607)				CATCCTGGACCGCTTTCTCTT	0.567																																						ENST00000254457.5																			0				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(1)	16						c.(40-42)Cgc>Agc		LIM homeobox 1							101	91	94					17																	35295534		2203	4300	6503	SO:0001583	missense	3975				cerebellar Purkinje cell differentiation|cerebellar Purkinje cell-granule cell precursor cell signaling involved in regulation of granule cell precursor cell proliferation|cervix development|comma-shaped body morphogenesis|dorsal/ventral pattern formation|ectoderm formation|embryonic pattern specification|embryonic retina morphogenesis in camera-type eye|embryonic viscerocranium morphogenesis|endoderm formation|forebrain regionalization|head development|motor axon guidance|negative regulation of transcription, DNA-dependent|nephric duct morphogenesis|nephron tubule epithelial cell differentiation|neuron migration|oviduct epithelium development|paramesonephric duct development|positive regulation of anterior head development|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of embryonic development|positive regulation of gastrulation|positive regulation of transcription, DNA-dependent|post-embryonic development|primitive streak formation|renal vesicle morphogenesis|retina layer formation|S-shaped body morphogenesis|spinal cord association neuron differentiation|transcription from RNA polymerase II promoter|ureteric bud development|uterine epithelium development|vagina development	nucleus|protein complex	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding	g.chr17:35295534C>A	U14755	CCDS11316.1	17q12	2014-04-11			ENSG00000132130	ENSG00000273706		"Homeoboxes / LIM class"	6593	protein-coding gene	gene with protein product		601999				9212161	Standard	NM_005568		Approved	LIM-1, LIM1	uc002hnh.2	P48742	OTTHUMG00000188456	ENST00000254457.5:c.40C>A	17.37:g.35295534C>A	ENSP00000254457:p.Arg14Ser						p.R14S	NM_005568.3	NP_005559.2	P48742	LHX1_HUMAN			1	1451	+		Breast(25;0.00607)	14			LIM zinc-binding 1.		Q3MIW0	Missense_Mutation	SNP	ENST00000254457.5	37	c.40C>A	CCDS11316.1	.	.	.	.	.	.	.	.	.	.	C	18.92	3.724865	0.68959	.	.	ENSG00000132130	ENST00000254457	D	0.87729	-2.29	5.09	4.09	0.47781	Zinc finger, LIM-type (5);	0.000000	0.64402	U	0.000001	D	0.92090	0.7493	M	0.66439	2.03	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.92802	0.6257	10	0.87932	D	0	.	13.8577	0.63540	0.1536:0.8463:0.0:0.0	.	14	P48742	LHX1_HUMAN	S	14	ENSP00000254457:R14S	ENSP00000254457:R14S	R	+	1	0	LHX1	32369647	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.483000	0.45233	1.315000	0.45114	0.491000	0.48974	CGC		0.567	LHX1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000256704.3	NM_005568		3	88	1	0	0.150653	1	0.157204	3	88					A	35295534	C	A	35295534	3	1	223	1	0	0	0	0	1	0	0	0	8770	652	23	5	42	5	LHX1	17	35295534	Missense_Mutation	SNP	C	TCGA-HC-7818-01A-11D-2114-08	24852976	35295534	45899676	35	10307											
KRTAP3-1	83896	broad.mit.edu	37	chr17	39165307	39165307	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cggtggggacgctgcaggagCggagagcacagcaatacatg	11	4	17	9	3	0	1	0	0	0	1	0	4	0	3	0	5	5	4	0	5	2	1	rs141325742	byFrequency	TCGA-HC-7818-01A-11D-2114-08	TCGA-HC-7818-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e891ad9-b0bd-4fd7-9de1-33f5b0b1d241	906dec9a-0452-40a1-8563-163ca6be1abf	g.chr17:39165307C>T	ENST00000391588.1	-	1	59	c.20G>A	c.(19-21)cGc>cAc	p.R7H	KRTAP3-1_ENST00000581033.1_Intron	NM_031958.1	NP_114164.1	Q9BYR8	KRA31_HUMAN	keratin associated protein 3-1	7	4 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	8		Breast(137;0.00043)				GCTGCAGGAGCGGAGAGCACA	0.552																																						ENST00000391588.1																			0				autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	8						c.(19-21)cGc>cAc		keratin associated protein 3-1		C	HIS/ARG	6,4400	11.4+/-27.6	0,6,2197	96	109	105		20	4.8	0.2	17	dbSNP_134	105	0,8592		0,0,4296	yes	missense	KRTAP3-1	NM_031958.1	29	0,6,6493	TT,TC,CC		0.0,0.1362,0.0462	possibly-damaging	7/99	39165307	6,12992	2203	4296	6499	SO:0001583	missense	83896					keratin filament	structural molecule activity	g.chr17:39165307C>T	AJ406931	CCDS32645.1	17q21.2	2013-06-25			ENSG00000212901	ENSG00000212901		"Keratin associated proteins"	16778	protein-coding gene	gene with protein product						11279113	Standard	NM_031958		Approved	KAP3.1	uc002hvt.1	Q9BYR8	OTTHUMG00000133595	ENST00000391588.1:c.20G>A	17.37:g.39165307C>T	ENSP00000375430:p.Arg7His					KRTAP3-1_ENST00000581033.1_Intron	p.R7H	NM_031958.1	NP_114164.1	Q9BYR8	KRA31_HUMAN			1	59	-		Breast(137;0.00043)	7			4 X 5 AA repeats of C-C-X(3).		Q14DM4	Missense_Mutation	SNP	ENST00000391588.1	37	c.20G>A	CCDS32645.1	.	.	.	.	.	.	.	.	.	.	C	6.309	0.425078	0.11987	0.001362	0.0	ENSG00000212901	ENST00000391588	T	0.25085	1.82	5.75	4.78	0.61160	.	1.108680	0.07026	N	0.827578	T	0.22627	0.0546	.	.	.	0.18873	N	0.999982	P	0.43412	0.806	B	0.39027	0.288	T	0.13629	-1.0502	9	0.34782	T	0.22	-3.1619	10.7809	0.46377	0.0:0.9128:0.0:0.0872	.	7	Q9BYR8	KRA31_HUMAN	H	7	ENSP00000375430:R7H	ENSP00000375430:R7H	R	-	2	0	KRTAP3-1	36418833	0.032000	0.19561	0.200000	0.23457	0.329000	0.28539	0.778000	0.26732	1.447000	0.47661	0.632000	0.83419	CGC		0.552	KRTAP3-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257699.1			10	108	0	0	0	1	0	10	108					T	39165307	C	T	39165307	3	4	223	1	0	0	0	0	1	0	0	0	8545	768	27	1	280	1	KRTAP3-1	17	39165307	Missense_Mutation	SNP	C	TCGA-HC-7818-01A-11D-2114-08	3869773	39165307	42029903	36	10308											
ALPK2	115701	broad.mit.edu	37	chr18	56203463	56203463	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tccaatgtacactgatggtgGgctcttcgcctttatggctt	6	15	10	10	1	1	1	0	1	1	0	3	1	2	1	2	3	1	3	2	3	3	5			TCGA-HC-7818-01A-11D-2114-08	TCGA-HC-7818-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e891ad9-b0bd-4fd7-9de1-33f5b0b1d241	906dec9a-0452-40a1-8563-163ca6be1abf	g.chr18:56203463G>C	ENST00000361673.3	-	5	4169	c.3956C>G	c.(3955-3957)cCc>cGc	p.P1319R	RP11-1151B14.4_ENST00000591360.1_RNA	NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	1319						nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						ACTGATGGTGGGCTCTTCGCC	0.517																																						ENST00000361673.3																			0				NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						c.(3955-3957)cCc>cGc		alpha-kinase 2							101	95	97					18																	56203463		2203	4300	6503	SO:0001583	missense	115701						ATP binding|protein serine/threonine kinase activity	g.chr18:56203463G>C	AY044450	CCDS11966.2	18q21.31	2013-01-11			ENSG00000198796	ENSG00000198796		"Immunoglobulin superfamily / I-set domain containing"	20565	protein-coding gene	gene with protein product	"heart alpha-kinase"					10021370	Standard	NM_052947		Approved	HAK	uc002lhj.4	Q86TB3	OTTHUMG00000132755	ENST00000361673.3:c.3956C>G	18.37:g.56203463G>C	ENSP00000354991:p.Pro1319Arg					RP11-1151B14.4_ENST00000591360.1_RNA	p.P1319R	NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN			5	4169	-			1319					Q6ZUX0|Q8NAT5|Q96L95	Missense_Mutation	SNP	ENST00000361673.3	37	c.3956C>G	CCDS11966.2	.	.	.	.	.	.	.	.	.	.	g	12.64	1.997292	0.35226	.	.	ENSG00000198796	ENST00000361673	T	0.45668	0.89	5.11	-1.88	0.07713	.	2.215120	0.01417	N	0.014215	T	0.32133	0.0819	L	0.40543	1.245	0.09310	N	1	B;B	0.27882	0.192;0.031	B;B	0.23018	0.043;0.012	T	0.11299	-1.0593	10	0.30078	T	0.28	1.3462	6.1599	0.20358	0.2651:0.4871:0.2478:0.0	.	1314;1319	Q86TB3-2;Q86TB3	.;ALPK2_HUMAN	R	1319	ENSP00000354991:P1319R	ENSP00000354991:P1319R	P	-	2	0	ALPK2	54354443	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.236000	0.09003	-0.224000	0.09928	0.457000	0.33378	CCC		0.517	ALPK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256126.1	NM_052947		3	90	0	0	0	1	0	3	90					C	56203463	G	C	56203463	3	2	223	1	0	0	0	0	1	0	0	0	545	1232	43	5	2592	5	ALPK2	18	56203463	Missense_Mutation	SNP	G	TCGA-HC-7818-01A-11D-2114-08		56203463	21873785	37	10309											
ZNF878	729747	broad.mit.edu	37	chr19	12155304	12155305	+	Frame_Shift_Del	DEL	TT	TT	-																															tagggtttctctccagtgtgTtttctttcatgtactcgcag																								rs372424657		TCGA-HC-7818-01A-11D-2114-08	TCGA-HC-7818-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e891ad9-b0bd-4fd7-9de1-33f5b0b1d241	906dec9a-0452-40a1-8563-163ca6be1abf	g.chr19:12155304_12155305delTT	ENST00000547628.1	-	4	1048_1049	c.911_912delAA	c.(910-912)aaafs	p.K304fs	CTD-2006C1.2_ENST00000591898.1_RNA|CTD-2006C1.2_ENST00000591838.1_RNA|CTD-2006C1.2_ENST00000476474.1_RNA|CTD-2006C1.10_ENST00000547473.1_Intron|ZNF878_ENST00000602107.1_Frame_Shift_Del_p.K351fs	NM_001080404.2	NP_001073873.2	C9JN71	ZN878_HUMAN	zinc finger protein 878	304					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			cervix(1)|endometrium(1)|kidney(1)|lung(4)|urinary_tract(1)	8						CTCCAGTGTGTTTTCTTTCATG	0.416																																						ENST00000602107.1																			0				cervix(1)|endometrium(1)|kidney(1)|lung(4)|urinary_tract(1)	8						c.(1051-1053)afs		zinc finger protein 878																																				SO:0001589	frameshift_variant	729747				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	g.chr19:12155304_12155305delTT		CCDS45984.1, CCDS45984.2	19p13.2	2013-01-08				ENSG00000257446		"Zinc fingers, C2H2-type", "-"	37246	protein-coding gene	gene with protein product							Standard	NM_001080404		Approved		uc021upl.1	C9JN71		ENST00000547628.1:c.911_912delAA	19.37:g.12155306_12155307delTT	ENSP00000447931:p.Lys304fs					CTD-2006C1.2_ENST00000476474.1_RNA|CTD-2006C1.2_ENST00000591898.1_RNA|CTD-2006C1.2_ENST00000591838.1_RNA|CTD-2006C1.10_ENST00000547473.1_Intron|ZNF878_ENST00000547628.1_Frame_Shift_Del_p.K304fs	p.K351fs			C9JN71	ZN878_HUMAN			5	1051_1052	-			304						Frame_Shift_Del	DEL	ENST00000547628.1	37	c.1052_1053delAA	CCDS45984.2																																																																																				0.416	ZNF878-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403723.1	NM_001080404		9	107						9	107	---	---	---	---	-	12155305	TT	-	12155304	7	5	223	1	0	1	0	1	0	0	0	0	18193	1722	60	0	687	0	ZNF878	19	12155304	Frame_Shift_Del	DEL	TT	TCGA-HC-7818-01A-11D-2114-08		12155304	46973679	38	10310											
UNC13A	23025	broad.mit.edu	37	chr19	17743610	17743610	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgcagggtactcaggcacgcGgtccttgaaggcgggaagtt	8	7	16	10	4	1	1	1	1	0	0	2	2	2	2	1	5	1	4	1	5	3	3			TCGA-HC-7818-01A-11D-2114-08	TCGA-HC-7818-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e891ad9-b0bd-4fd7-9de1-33f5b0b1d241	906dec9a-0452-40a1-8563-163ca6be1abf	g.chr19:17743610G>A	ENST00000519716.2	-	28	3408	c.3409C>T	c.(3409-3411)Cgc>Tgc	p.R1137C	UNC13A_ENST00000550896.1_Missense_Mutation_p.R1135C|UNC13A_ENST00000428389.2_Missense_Mutation_p.R1225C|UNC13A_ENST00000551649.1_Missense_Mutation_p.R1137C|UNC13A_ENST00000252773.7_Missense_Mutation_p.R1137C|UNC13A_ENST00000552293.1_Missense_Mutation_p.R1137C	NM_001080421.2	NP_001073890.2	Q9UPW8	UN13A_HUMAN	unc-13 homolog A (C. elegans)	1137	MHD1. {ECO:0000255|PROSITE- ProRule:PRU00587}.				beta-amyloid metabolic process (GO:0050435)|innervation (GO:0060384)|intracellular signal transduction (GO:0035556)|neuromuscular junction development (GO:0007528)|neurotransmitter secretion (GO:0007269)|positive regulation of neurotransmitter secretion (GO:0001956)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission, glutamatergic (GO:0035249)|synaptic vesicle docking involved in exocytosis (GO:0016081)|synaptic vesicle maturation (GO:0016188)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|neuromuscular junction (GO:0031594)|neuron projection (GO:0043005)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)|protein N-terminus binding (GO:0047485)|syntaxin-1 binding (GO:0017075)			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2)	61						TCAGGCACGCGGTCCTTGAAG	0.542																																						ENST00000428389.2																			0				breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2)	61						c.(3673-3675)Cgc>Tgc		unc-13 homolog A (C. elegans)							103	108	107					19																	17743610		2125	4249	6374	SO:0001583	missense	23025				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding	g.chr19:17743610G>A	AB028955	CCDS46013.1, CCDS46013.2	19p13.12	2008-02-05				ENSG00000130477			23150	protein-coding gene	gene with protein product		609894					Standard	NM_001080421		Approved	KIAA1032, Munc13-1	uc031rjv.1	Q9UPW8		ENST00000519716.2:c.3409C>T	19.37:g.17743610G>A	ENSP00000429562:p.Arg1137Cys					UNC13A_ENST00000519716.2_Missense_Mutation_p.R1137C|UNC13A_ENST00000252773.7_Missense_Mutation_p.R1137C|UNC13A_ENST00000550896.1_Missense_Mutation_p.R1135C|UNC13A_ENST00000552293.1_Missense_Mutation_p.R1137C|UNC13A_ENST00000551649.1_Missense_Mutation_p.R1137C	p.R1225C			Q9UPW8	UN13A_HUMAN			29	3672	-			1137			MHD1.		E5RHY9	Missense_Mutation	SNP	ENST00000519716.2	37	c.3673C>T	CCDS46013.2	.	.	.	.	.	.	.	.	.	.	g	13.18	2.159731	0.38119	.	.	ENSG00000130477	ENST00000519716;ENST00000428389;ENST00000252773;ENST00000551649;ENST00000552293;ENST00000550896	T;T;T;T;T;T	0.81247	-1.46;-1.47;-1.46;-1.33;-1.34;-1.47	3.63	3.63	0.41609	Munc13 homology 1 (1);	0.533186	0.17065	U	0.188387	T	0.74794	0.3763	L	0.36672	1.1	0.41969	D	0.990741	P	0.45715	0.865	P	0.46339	0.513	T	0.75628	-0.3252	10	0.62326	D	0.03	.	8.4594	0.32919	0.0:0.0:0.7669:0.2331	.	1137	Q9UPW8	UN13A_HUMAN	C	1137;1225;1137;1137;1137;1135	ENSP00000429562:R1137C;ENSP00000400409:R1225C;ENSP00000252773:R1137C;ENSP00000447236:R1137C;ENSP00000447572:R1137C;ENSP00000446831:R1135C	ENSP00000252773:R1137C	R	-	1	0	UNC13A	17604610	0.918000	0.31147	0.998000	0.56505	0.538000	0.34931	0.981000	0.29526	1.585000	0.49928	0.298000	0.19748	CGC		0.542	UNC13A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000376169.2	XM_038604		4	81	0	0	0	1	0	4	81					A	17743610	G	A	17743610	3	1	223	1	0	0	0	0	1	0	0	0	16981	1116	39	2	1766	2	UNC13A	19	17743610	Missense_Mutation	SNP	G	TCGA-HC-7818-01A-11D-2114-08	5588306	17743610	41385373	39	10311											
WDR62	284403	broad.mit.edu	37	chr19	36582178	36582178	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctcagtgattgacttttactCgggcgagtgcattgccaaga	9	12	11	9	2	1	3	1	2	0	1	2	4	1	3	1	1	3	1	1	1	2	4			TCGA-HC-7818-01A-11D-2114-08	TCGA-HC-7818-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e891ad9-b0bd-4fd7-9de1-33f5b0b1d241	906dec9a-0452-40a1-8563-163ca6be1abf	g.chr19:36582178C>T	ENST00000270301.7	+	17	2111	c.2111C>T	c.(2110-2112)tCg>tTg	p.S704L	WDR62_ENST00000401500.2_Missense_Mutation_p.S704L			O43379	WDR62_HUMAN	WD repeat domain 62	704					cerebral cortex development (GO:0021987)|neurogenesis (GO:0022008)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|spindle pole (GO:0000922)				cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(15)|prostate(4)|stomach(2)|urinary_tract(3)	43	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			GACTTTTACTCGGGCGAGTGC	0.582																																						ENST00000401500.2																			0				cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(15)|prostate(4)|stomach(2)|urinary_tract(3)	43						c.(2110-2112)tCg>tTg		WD repeat domain 62							105	84	91					19																	36582178		2203	4300	6503	SO:0001583	missense	284403				cerebral cortex development	nucleus		g.chr19:36582178C>T	BX647726	CCDS33001.1, CCDS46059.1	19q13.12	2013-01-09	2005-05-09	2005-05-09	ENSG00000075702	ENSG00000075702		"WD repeat domain containing"	24502	protein-coding gene	gene with protein product		613583	"chromosome 19 open reading frame 14", "microcephaly, primary autosomal recessive 2"	C19orf14, MCPH2		19910486, 20729831, 20890278, 21496009	Standard	NM_001083961		Approved	DKFZP434J046, FLJ33298	uc002odd.2	O43379	OTTHUMG00000048139	ENST00000270301.7:c.2111C>T	19.37:g.36582178C>T	ENSP00000270301:p.Ser704Leu					WDR62_ENST00000270301.7_Missense_Mutation_p.S704L	p.S704L	NM_001083961.1|NM_173636.4	NP_001077430.1|NP_775907.4	O43379	WDR62_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.06)		17	2146	+	Esophageal squamous(110;0.162)		704					Q63HP9|Q659D7|Q8NBF7|Q96AD9	Missense_Mutation	SNP	ENST00000270301.7	37	c.2111C>T	CCDS33001.1	.	.	.	.	.	.	.	.	.	.	C	35	5.548778	0.96488	.	.	ENSG00000075702	ENST00000401500;ENST00000270301	T;T	0.59906	0.87;0.23	5.35	5.35	0.76521	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.149243	0.46145	D	0.000308	T	0.80193	0.4578	M	0.90814	3.15	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.71414	0.964;0.973	D	0.83964	0.0323	10	0.87932	D	0	-12.0401	16.6023	0.84819	0.0:1.0:0.0:0.0	.	704;704	O43379-4;O43379	.;WDR62_HUMAN	L	704	ENSP00000384792:S704L;ENSP00000270301:S704L	ENSP00000270301:S704L	S	+	2	0	WDR62	41274018	1.000000	0.71417	0.968000	0.41197	0.999000	0.98932	7.278000	0.78587	2.780000	0.95670	0.655000	0.94253	TCG		0.582	WDR62-006	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000457436.1	NM_015671		5	72	0	0	0	1	0	5	72					T	36582178	C	T	36582178	3	4	223	1	0	0	0	0	1	0	0	0	17310	893	31	2	2177	2	WDR62	19	36582178	Missense_Mutation	SNP	C	TCGA-HC-7818-01A-11D-2114-08	18838568	36582178	22546805	40	10312											
ZNF546	339327	broad.mit.edu	37	chr19	40521135	40521135	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tattcgtagcactcatctcaCgcaacatcacagaattcata	14	11	4	12	2	4	1	4	0	1	1	6	1	4	1	0	0	2	3	0	0	5	5	rs111889850	byFrequency	TCGA-HC-7818-01A-11D-2114-08	TCGA-HC-7818-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e891ad9-b0bd-4fd7-9de1-33f5b0b1d241	906dec9a-0452-40a1-8563-163ca6be1abf	g.chr19:40521135C>T	ENST00000347077.4	+	7	2174	c.1958C>T	c.(1957-1959)aCg>aTg	p.T653M	ZNF546_ENST00000596894.1_Intron|ZNF546_ENST00000600094.1_Missense_Mutation_p.T627M	NM_178544.3	NP_848639.2	Q86UE3	ZN546_HUMAN	zinc finger protein 546	653					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(15)|lung(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)	34	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					ACTCATCTCACGCAACATCAC	0.418													C|||	12	0.00239617	0.0091	0	5008	,	,		21680	0		0	False		,,,				2504	0					ENST00000347077.4																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(15)|lung(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)	34						c.(1957-1959)aCg>aTg		zinc finger protein 546		C	MET/THR	9,4397	825.2+/-416.5	0,9,2194	68	65	66		1958	1.9	0.3	19	dbSNP_132	66	0,8600		0,0,4300	no	missense	ZNF546	NM_178544.3	81	0,9,6494	TT,TC,CC		0.0,0.2043,0.0692	probably-damaging	653/837	40521135	9,12997	2203	4300	6503	SO:0001583	missense	339327				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:40521135C>T	BC045649	CCDS12548.1	19q13.2	2013-01-08				ENSG00000187187		"Zinc fingers, C2H2-type", "-"	28671	protein-coding gene	gene with protein product				ZNF49		12477932	Standard	XM_005258853		Approved	MGC43537	uc002oms.2	Q86UE3		ENST00000347077.4:c.1958C>T	19.37:g.40521135C>T	ENSP00000339823:p.Thr653Met					ZNF546_ENST00000600094.1_Missense_Mutation_p.T627M|ZNF546_ENST00000596894.1_Intron	p.T653M	NM_178544.3	NP_848639.2	Q86UE3	ZN546_HUMAN			7	2174	+	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)		653					A8K913	Missense_Mutation	SNP	ENST00000347077.4	37	c.1958C>T	CCDS12548.1	5	0.0022893772893772895	5	0.01016260162601626	0	0.0	0	0.0	0	0.0	t	10.99	1.507195	0.27036	0.002043	0.0	ENSG00000187187	ENST00000347077;ENST00000392042	T	0.08102	3.13	2.91	1.87	0.25490	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.04092	0.0114	L	0.29908	0.895	0.09310	N	1	B	0.24317	0.101	B	0.21151	0.033	T	0.34378	-0.9831	9	0.54805	T	0.06	.	5.1916	0.15212	0.0:0.7305:0.0:0.2695	.	653	Q86UE3	ZN546_HUMAN	M	653;262	ENSP00000339823:T653M	ENSP00000339823:T653M	T	+	2	0	ZNF546	45212975	0.000000	0.05858	0.282000	0.24776	0.827000	0.46813	-1.249000	0.02888	0.793000	0.33875	-0.186000	0.12905	ACG		0.418	ZNF546-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462495.2	NM_178544		5	67	0	0	0	1	0	5	67					T	40521135	C	T	40521135	3	4	223	1	0	0	0	0	1	0	0	0	17975	536	19	1	1976	1	ZNF546	19	40521135	Missense_Mutation	SNP	C	TCGA-HC-7818-01A-11D-2114-08	3938957	40521135	18607848	41	10313											
MYBPC2	4606	broad.mit.edu	37	chr19	50957350	50957350	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cagctttgtgattgagagtgCgcagcgggaagacgagggcc	9	7	17	8	3	0	3	0	2	0	2	0	6	0	4	1	2	3	2	1	2	1	2	rs371496229		TCGA-HC-7818-01A-11D-2114-08	TCGA-HC-7818-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e891ad9-b0bd-4fd7-9de1-33f5b0b1d241	906dec9a-0452-40a1-8563-163ca6be1abf	g.chr19:50957350C>T	ENST00000357701.5	+	17	1874	c.1823C>T	c.(1822-1824)gCg>gTg	p.A608V		NM_004533.3	NP_004524.3	Q14324	MYPC2_HUMAN	myosin binding protein C, fast type	608	Ig-like C2-type 5.				cell adhesion (GO:0007155)|muscle filament sliding (GO:0030049)	cytosol (GO:0005829)|myosin filament (GO:0032982)	structural constituent of muscle (GO:0008307)			breast(1)	1		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.0079)|GBM - Glioblastoma multiforme(134;0.0144)		ATTGAGAGTGCGCAGCGGGAA	0.602																																						ENST00000357701.5																			0				breast(1)	1						c.(1822-1824)gCg>gTg		myosin binding protein C, fast type		C	VAL/ALA	0,4260		0,0,2130	32	37	35		1823	2.9	0	19		35	1,8433		0,1,4216	no	missense	MYBPC2	NM_004533.3	64	0,1,6346	TT,TC,CC		0.0119,0.0,0.0079	probably-damaging	608/1142	50957350	1,12693	2130	4217	6347	SO:0001583	missense	4606				cell adhesion|muscle filament sliding	cytosol|myosin filament	actin binding|structural constituent of muscle	g.chr19:50957350C>T		CCDS46152.1	19q13.33	2013-02-11	2001-11-28		ENSG00000086967	ENSG00000086967		"Myosin binding proteins", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	7550	protein-coding gene	gene with protein product	"fast-type muscle myosin-binding-protein C"	160793	"myosin-binding protein C, fast-type"			8375400	Standard	NM_004533		Approved	MYBPCF, MYBPC, MGC163408	uc002psf.2	Q14324		ENST00000357701.5:c.1823C>T	19.37:g.50957350C>T	ENSP00000350332:p.Ala608Val						p.A608V	NM_004533.3	NP_004524.3	Q14324	MYPC2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0079)|GBM - Glioblastoma multiforme(134;0.0144)	17	1874	+		all_neural(266;0.057)	608			Ig-like C2-type 5.		A1L4G9	Missense_Mutation	SNP	ENST00000357701.5	37	c.1823C>T	CCDS46152.1	.	.	.	.	.	.	.	.	.	.	c	15.36	2.809892	0.50421	0.0	1.19E-4	ENSG00000086967	ENST00000357701	T	0.64618	-0.11	2.93	2.93	0.34026	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.34531	U	0.003888	T	0.50240	0.1604	L	0.52573	1.65	0.39227	D	0.963611	P	0.41784	0.762	B	0.39805	0.31	T	0.54984	-0.8211	10	0.05525	T	0.97	.	13.1086	0.59261	0.0:1.0:0.0:0.0	.	608	Q14324	MYPC2_HUMAN	V	608	ENSP00000350332:A608V	ENSP00000350332:A608V	A	+	2	0	MYBPC2	55649162	1.000000	0.71417	0.020000	0.16555	0.021000	0.10359	5.046000	0.64226	1.690000	0.51089	0.394000	0.25966	GCG		0.602	MYBPC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464751.1	NM_004533		4	20	0	0	0	1	0	4	20					T	50957350	C	T	50957350	3	4	223	1	0	0	0	0	1	0	0	0	10012	768	27	1	1889	1	MYBPC2	19	50957350	Missense_Mutation	SNP	C	TCGA-HC-7818-01A-11D-2114-08	10436215	50957350	8171633	42	10314											
POLDIP3	84271	broad.mit.edu	37	chr22	42981905	42981905	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acttcggcaggggggttggaGgaggaggcagagttcaccct	8	7	18	8	1	1	1	1	0	0	1	2	4	1	4	1	8	0	4	1	8	0	3			TCGA-HC-7818-01A-11D-2114-08	TCGA-HC-7818-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e891ad9-b0bd-4fd7-9de1-33f5b0b1d241	906dec9a-0452-40a1-8563-163ca6be1abf	g.chr22:42981905G>A	ENST00000252115.5	-	9	1262	c.1158C>T	c.(1156-1158)tcC>tcT	p.S386S	POLDIP3_ENST00000451060.2_3'UTR|POLDIP3_ENST00000339677.6_Intron|POLDIP3_ENST00000348657.2_Silent_p.S357S|POLDIP3_ENST00000491021.1_5'UTR	NM_032311.3	NP_115687.2	Q9BY77	PDIP3_HUMAN	polymerase (DNA-directed), delta interacting protein 3	386					poly(A)+ mRNA export from nucleus (GO:0016973)|positive regulation of translation (GO:0045727)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|upper_aerodigestive_tract(1)	16						GGGGGTTGGAGGAGGAGGCAG	0.557																																					Ovarian(52;967 1128 5875 19997 42537)	ENST00000252115.5																			0				biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|upper_aerodigestive_tract(1)	16						c.(1156-1158)tcC>tcT		polymerase (DNA-directed), delta interacting protein 3							65	57	59					22																	42981905		2203	4300	6503	SO:0001819	synonymous_variant	84271				positive regulation of translation	cytoplasm|nuclear speck	nucleotide binding|protein binding|RNA binding	g.chr22:42981905G>A		CCDS14038.1, CCDS14039.1, CCDS74873.1	22q13.31	2013-02-12			ENSG00000100227	ENSG00000100227		"RNA binding motif (RRM) containing"	23782	protein-coding gene	gene with protein product		611520				12522211	Standard	NM_032311		Approved	PDIP46, KIAA1649	uc003bcu.3	Q9BY77	OTTHUMG00000150887	ENST00000252115.5:c.1158C>T	22.37:g.42981905G>A						POLDIP3_ENST00000348657.2_Silent_p.S357S|POLDIP3_ENST00000451060.2_3'UTR|POLDIP3_ENST00000491021.1_5'UTR|POLDIP3_ENST00000339677.6_Intron	p.S386S	NM_032311.3	NP_115687.2	Q9BY77	PDIP3_HUMAN			9	1262	-			386					A8K6F8|A8K6V9|Q009A7|Q5H972|Q6PGN6|Q7Z6Z0|Q9NSP5|Q9NSP6	Silent	SNP	ENST00000252115.5	37	c.1158C>T	CCDS14038.1																																																																																				0.557	POLDIP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320433.1	NM_032311		3	60	0	0	0	1	0	3	60					A	42981905	G	A	42981905	2	1	223	1	0	0	0	0	0	0	0	1	12195	987	35	3		3	POLDIP3	22	42981905	Silent	SNP	G	TCGA-HC-7818-01A-11D-2114-08		42981905	8322661	43	10315											
ARHGEF10L	55160	broad.mit.edu	37	chr1	17953976	17953976	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagctgaccaagagcgtcaGtgaccgcagcagcctcaaca	12	4	11	14	2	2	3	2	2	0	1	2	3	2	3	3	0	5	4	3	0	2	0			TCGA-HC-7819-01A-11D-2114-08	TCGA-HC-7819-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	997549f6-8dde-4b4a-b477-609a535b301f	7f5954b3-ce60-414b-bd40-f46175ba19c4	g.chr1:17953976G>T	ENST00000361221.3	+	15	1721	c.1562G>T	c.(1561-1563)aGt>aTt	p.S521I	ARHGEF10L_ENST00000434513.1_Missense_Mutation_p.S521I|ARHGEF10L_ENST00000167825.4_Missense_Mutation_p.S229I|ARHGEF10L_ENST00000452522.1_Missense_Mutation_p.S482I|ARHGEF10L_ENST00000375408.3_Missense_Mutation_p.S299I|ARHGEF10L_ENST00000375415.1_Missense_Mutation_p.S482I|ARHGEF10L_ENST00000375420.3_Missense_Mutation_p.S279I|ARHGEF10L_ENST00000469726.1_3'UTR	NM_018125.3	NP_060595	Q9HCE6	ARGAL_HUMAN	Rho guanine nucleotide exchange factor (GEF) 10-like	521						cytoplasm (GO:0005737)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	43		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00598)|COAD - Colon adenocarcinoma(227;1.62e-05)|BRCA - Breast invasive adenocarcinoma(304;1.68e-05)|Kidney(64;0.000269)|KIRC - Kidney renal clear cell carcinoma(64;0.00361)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0718)|Lung(427;0.204)		AAGAGCGTCAGTGACCGCAGC	0.667																																						ENST00000361221.3																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	43						c.(1561-1563)aGt>aTt		Rho guanine nucleotide exchange factor (GEF) 10-like							44	37	39					1																	17953976		2202	4300	6502	SO:0001583	missense	55160				regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity	g.chr1:17953976G>T	AB046846	CCDS182.1, CCDS30617.1	1p36.13	2011-11-16			ENSG00000074964	ENSG00000074964		"Rho guanine nucleotide exchange factors"	25540	protein-coding gene	gene with protein product	"GrinchGEF"	612494				10997877, 16112081	Standard	XM_005245923		Approved	FLJ10521, KIAA1626	uc001ban.3	Q9HCE6	OTTHUMG00000002514	ENST00000361221.3:c.1562G>T	1.37:g.17953976G>T	ENSP00000355060:p.Ser521Ile					ARHGEF10L_ENST00000167825.4_Missense_Mutation_p.S229I|ARHGEF10L_ENST00000434513.1_Missense_Mutation_p.S521I|ARHGEF10L_ENST00000452522.1_Missense_Mutation_p.S482I|ARHGEF10L_ENST00000375420.3_Missense_Mutation_p.S279I|ARHGEF10L_ENST00000375415.1_Missense_Mutation_p.S482I|ARHGEF10L_ENST00000469726.1_3'UTR|ARHGEF10L_ENST00000375408.3_Missense_Mutation_p.S299I	p.S521I	NM_018125.3	NP_060595.3	Q9HCE6	ARGAL_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00598)|COAD - Colon adenocarcinoma(227;1.62e-05)|BRCA - Breast invasive adenocarcinoma(304;1.68e-05)|Kidney(64;0.000269)|KIRC - Kidney renal clear cell carcinoma(64;0.00361)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0718)|Lung(427;0.204)	15	1721	+		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)	521					B7ZKS1|Q17RW1|Q3YFJ4|Q5VXI5|Q5VXI6|Q66K51|Q6P0L7|Q8NAV5|Q9NVT3	Missense_Mutation	SNP	ENST00000361221.3	37	c.1562G>T	CCDS182.1	.	.	.	.	.	.	.	.	.	.	G	17.57	3.421329	0.62622	.	.	ENSG00000074964	ENST00000361221;ENST00000452522;ENST00000434513;ENST00000375415;ENST00000375420;ENST00000375408;ENST00000457829;ENST00000167825	T;T;T;T;T;T;T	0.62364	0.36;0.38;0.21;0.38;0.03;0.11;2.32	5.14	4.23	0.50019	.	0.000000	0.85682	D	0.000000	T	0.74801	0.3764	M	0.63843	1.955	0.37180	D	0.903476	D;D;D;D;D;D;D;D	0.89917	0.999;0.997;0.999;1.0;0.999;0.999;1.0;0.999	D;D;D;D;D;D;D;D	0.76575	0.969;0.929;0.983;0.988;0.969;0.986;0.988;0.972	T	0.80567	-0.1325	10	0.72032	D	0.01	-20.4585	12.3647	0.55222	0.0823:0.0:0.9177:0.0	.	299;279;521;229;287;482;482;521	Q5VXI4;B4DTE2;Q9HCE6-5;Q9HCE6-4;B3KX74;Q9HCE6-3;Q9HCE6-2;Q9HCE6	.;.;.;.;.;.;.;ARGAL_HUMAN	I	521;482;521;482;279;299;299;229	ENSP00000355060:S521I;ENSP00000399401:S482I;ENSP00000394621:S521I;ENSP00000364564:S482I;ENSP00000364569:S279I;ENSP00000364557:S299I;ENSP00000167825:S229I	ENSP00000167825:S229I	S	+	2	0	ARHGEF10L	17826563	1.000000	0.71417	0.964000	0.40570	0.483000	0.33249	7.357000	0.79456	1.386000	0.46466	0.462000	0.41574	AGT		0.667	ARHGEF10L-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000007147.1	NM_018125		3	29	1	0	0.00024832	0.150653	0.000276538	3	29					T	17953976	G	T	17953976	3	4	224	1	0	0	0	0	1	0	0	0	895	1029	36	5	1616	5	ARHGEF10L	1	17953976	Missense_Mutation	SNP	G	TCGA-HC-7819-01A-11D-2114-08		17953976	231296645	1	10316											
MAST2	23139	broad.mit.edu	37	chr1	46495849	46495849	+	Frame_Shift_Del	DEL	T	T	-																															ctcggaggatgaggaagaagTgagtgaggatggctgccttg																										TCGA-HC-7819-01A-11D-2114-08	TCGA-HC-7819-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	997549f6-8dde-4b4a-b477-609a535b301f	7f5954b3-ce60-414b-bd40-f46175ba19c4	g.chr1:46495849delT	ENST00000361297.2	+	21	2775	c.2492delT	c.(2491-2493)gtgfs	p.V831fs	MAST2_ENST00000372009.2_Frame_Shift_Del_p.V761fs|MAST2_ENST00000477968.1_3'UTR	NM_015112.2	NP_055927.2			microtubule associated serine/threonine kinase 2											breast(1)|lung(3)|ovary(5)|stomach(2)	11	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.184)					GAGGAAGAAGTGAGTGAGGAT	0.572																																						ENST00000361297.2																			0				breast(1)|lung(3)|ovary(5)|stomach(2)	11						c.(2491-2493)ggfs		microtubule associated serine/threonine kinase 2							81	84	83					1																	46495849		2165	4270	6435	SO:0001589	frameshift_variant	23139				regulation of interleukin-12 biosynthetic process|spermatid differentiation	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|phosphatase binding|protein serine/threonine kinase activity	g.chr1:46495849delT	AB047005	CCDS41326.1	1p34.1	2008-02-05			ENSG00000086015	ENSG00000086015			19035	protein-coding gene	gene with protein product		612257					Standard	NM_015112		Approved	MAST205, KIAA0807	uc001cov.3	Q6P0Q8	OTTHUMG00000008007	ENST00000361297.2:c.2492delT	1.37:g.46495849delT	ENSP00000354671:p.Val831fs					MAST2_ENST00000372009.2_Frame_Shift_Del_p.V761fs|MAST2_ENST00000372008.1_Frame_Shift_Del_p.V716fs|MAST2_ENST00000477968.1_3'UTR	p.V831fs	NM_015112.2	NP_055927.2	Q6P0Q8	MAST2_HUMAN			21	2775	+	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.184)		831			AGC-kinase C-terminal.			Frame_Shift_Del	DEL	ENST00000361297.2	37	c.2492delT	CCDS41326.1																																																																																				0.572	MAST2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021977.1	NM_015112		12	90						12	90	---	---	---	---	-	46495849	T	-	46495849	7	5	224	1	0	1	0	1	0	0	0	0	9325	1696	59	0	2574	0	MAST2	1	46495849	Frame_Shift_Del	DEL	T	TCGA-HC-7819-01A-11D-2114-08	28541873	46495849	202754772	2	10317											
FCRLA	84824	broad.mit.edu	37	chr1	161683034	161683034	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctctggggatgccagatcCtcatctgtatcaccagatgg	8	11	10	12	0	4	2	2	0	2	2	6	3	6	3	4	3	1	1	4	3	1	1			TCGA-HC-7819-01A-11D-2114-08	TCGA-HC-7819-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	997549f6-8dde-4b4a-b477-609a535b301f	7f5954b3-ce60-414b-bd40-f46175ba19c4	g.chr1:161683034C>A	ENST00000236938.6	+	5	1237	c.995C>A	c.(994-996)cCt>cAt	p.P332H	FCRLA_ENST00000309691.6_Missense_Mutation_p.P226H|FCRLA_ENST00000349527.4_Missense_Mutation_p.P220H|FCRLA_ENST00000367957.2_Missense_Mutation_p.P192H|FCRLA_ENST00000367959.2_Missense_Mutation_p.P338H|FCRLA_ENST00000367949.2_Missense_Mutation_p.P148H|FCRLA_ENST00000540521.1_Missense_Mutation_p.P198H|FCRLA_ENST00000470841.1_3'UTR|FCRLA_ENST00000367950.1_Missense_Mutation_p.P108H|FCRLA_ENST00000294796.4_Missense_Mutation_p.P181H|FCRLA_ENST00000546024.1_Missense_Mutation_p.P243H|FCRLA_ENST00000367953.3_Missense_Mutation_p.P321H|FCRLA_ENST00000350710.3_Missense_Mutation_p.P97H|FCRLA_ENST00000540926.1_Missense_Mutation_p.P321H	NM_032738.3	NP_116127.3	Q7L513	FCRLA_HUMAN	Fc receptor-like A	315					cell differentiation (GO:0030154)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)				breast(1)|kidney(12)|large_intestine(4)|lung(13)|prostate(1)|skin(2)|stomach(1)	34	all_cancers(52;2.55e-15)|all_hematologic(112;0.0359)		BRCA - Breast invasive adenocarcinoma(70;0.00301)			ATGCCAGATCCTCATCTGTAT	0.572																																						ENST00000540926.1																			0				breast(1)|kidney(12)|large_intestine(4)|lung(13)|prostate(1)|skin(2)|stomach(1)	34						c.(961-963)cCt>cAt		Fc receptor-like A							72	71	72					1																	161683034		2203	4300	6503	SO:0001583	missense	84824				cell differentiation	cytoplasm|extracellular region		g.chr1:161683034C>A	AF531423	CCDS30926.1, CCDS53415.1, CCDS53416.1, CCDS53417.1, CCDS53418.1, CCDS53419.1, CCDS53420.1	1q23.3	2014-01-28	2006-09-26	2006-09-26	ENSG00000132185	ENSG00000132185		"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	18504	protein-coding gene	gene with protein product		606891	"Fc receptor-like and mucin-like 1"	FCRLM1		11754007	Standard	NM_001184866		Approved	MGC4595, FCRLc2, FCRLb, FCRLc1, FCRLd, FCRLe, FCRL, FCRLa, FREB, FCRLX	uc001gbe.3	Q7L513	OTTHUMG00000034537	ENST00000236938.6:c.995C>A	1.37:g.161683034C>A	ENSP00000236938:p.Pro332His					FCRLA_ENST00000367950.1_Missense_Mutation_p.P108H|FCRLA_ENST00000546024.1_Missense_Mutation_p.P243H|FCRLA_ENST00000540521.1_Missense_Mutation_p.P198H|FCRLA_ENST00000367949.2_Missense_Mutation_p.P148H|FCRLA_ENST00000367953.3_Missense_Mutation_p.P321H|FCRLA_ENST00000367959.2_Missense_Mutation_p.P338H|FCRLA_ENST00000294796.4_Missense_Mutation_p.P181H|FCRLA_ENST00000470841.1_3'UTR|FCRLA_ENST00000349527.4_Missense_Mutation_p.P220H|FCRLA_ENST00000309691.6_Missense_Mutation_p.P226H|FCRLA_ENST00000236938.6_Missense_Mutation_p.P332H|FCRLA_ENST00000367957.2_Missense_Mutation_p.P192H|FCRLA_ENST00000350710.3_Missense_Mutation_p.P97H	p.P321H			Q7L513	FCRLA_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00301)		6	1255	+	all_cancers(52;2.55e-15)|all_hematologic(112;0.0359)		315					A0N0M1|A6NC03|A6NL20|F5H720|F8W743|G3V1J2|Q5VXA1|Q5VXA2|Q5VXA3|Q5VXA4|Q5VXB0|Q5VXB1|Q8NEW4|Q8WXH3|Q96PC6|Q96PJ0|Q96PJ1|Q96PJ2|Q96PJ4|Q9BR57	Missense_Mutation	SNP	ENST00000236938.6	37	c.962C>A	CCDS30926.1	.	.	.	.	.	.	.	.	.	.	C	13.31	2.198378	0.38806	.	.	ENSG00000132185	ENST00000236938;ENST00000367959;ENST00000546024;ENST00000540521;ENST00000367949;ENST00000350710;ENST00000540926;ENST00000367957;ENST00000349527;ENST00000309691;ENST00000294796;ENST00000367953;ENST00000367950	T;T;T;T;T;T;T;T;T;T;T;T;T	0.40756	1.02;1.02;1.02;1.02;1.02;1.02;1.02;1.02;1.02;1.02;1.02;1.02;1.02	5.23	4.32	0.51571	.	0.000000	0.56097	D	0.000035	T	0.43875	0.1267	L	0.54323	1.7	0.26723	N	0.970734	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.91635	0.975;0.999;0.999;0.981;0.999;0.998;0.999	T	0.35151	-0.9800	10	0.87932	D	0	.	9.5791	0.39477	0.0:0.9064:0.0:0.0936	.	97;148;198;192;243;338;332	F8W743;A6NL20;F5H720;Q5VXB1;G3V1J2;A6NC03;Q7L513-9	.;.;.;.;.;.;.	H	332;338;243;198;148;97;321;192;220;226;181;321;108	ENSP00000236938:P332H;ENSP00000356936:P338H;ENSP00000439838:P243H;ENSP00000442870:P198H;ENSP00000356926:P148H;ENSP00000344808:P97H;ENSP00000446380:P321H;ENSP00000356934:P192H;ENSP00000294798:P220H;ENSP00000309596:P226H;ENSP00000294796:P181H;ENSP00000356930:P321H;ENSP00000356927:P108H	ENSP00000236938:P332H	P	+	2	0	FCRLA	159949658	0.552000	0.26505	0.291000	0.24904	0.227000	0.25037	3.235000	0.51328	1.444000	0.47605	-0.136000	0.14681	CCT		0.572	FCRLA-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000083574.1	NM_032738		3	53	1	0	0.00024832	0.150653	0.000276538	3	53					A	161683034	C	A	161683034	3	1	224	1	0	0	0	0	1	0	0	0	5800	681	24	5	1035	5	FCRLA	1	161683034	Missense_Mutation	SNP	C	TCGA-HC-7819-01A-11D-2114-08	115187185	161683034	87567587	3	10318											
APOB	338	broad.mit.edu	37	chr2	21231438	21231440	+	In_Frame_Del	DEL	GAG	GAG	-																															atttgcatctaatgtgaaaaGaggagattggattttcagaa																										TCGA-HC-7819-01A-11D-2114-08	TCGA-HC-7819-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	997549f6-8dde-4b4a-b477-609a535b301f	7f5954b3-ce60-414b-bd40-f46175ba19c4	g.chr2:21231438_21231440delGAG	ENST00000233242.1	-	26	8427_8429	c.8300_8302delCTC	c.(8299-8304)cctctt>ctt	p.P2767del		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	2767					artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AATGTGAAAAGAGGAGATTGGAT	0.438																																						ENST00000233242.1																			0				NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305						c.(8299-8304)ctt>c		apolipoprotein B	Atorvastatin(DB01076)																																			SO:0001651	inframe_deletion	338				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	g.chr2:21231438_21231440delGAG	M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"Apolipoproteins"	603	protein-coding gene	gene with protein product		107730	"apolipoprotein B (including Ag(x) antigen)"				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.8300_8302delCTC	2.37:g.21231441_21231443delGAG	ENSP00000233242:p.Pro2767del						p.PL2767del	NM_000384.2	NP_000375.2	P04114	APOB_HUMAN			26	8427_8429	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		2767					O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	In_Frame_Del	DEL	ENST00000233242.1	37	c.8300_8302delCTC	CCDS1703.1																																																																																				0.438	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1			17	184						17	184	---	---	---	---	-	21231440	GAG	-	21231438	7	5	224	1	0	1	0	1	0	0	0	0	785	942	33	0	5405	0	APOB	2	21231438	In_Frame_Del	DEL	GAG	TCGA-HC-7819-01A-11D-2114-08		21231438	221967935	4	10319											
ANKAR	150709	broad.mit.edu	37	chr2	190557050	190557050	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agattttaaatgccagaattTtcactacaaagagaatcaat	18	12	5	6	0	2	3	2	0	0	3	2	4	2	3	1	0	2	0	1	0	7	5			TCGA-HC-7819-01A-11D-2114-08	TCGA-HC-7819-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	997549f6-8dde-4b4a-b477-609a535b301f	7f5954b3-ce60-414b-bd40-f46175ba19c4	g.chr2:190557050T>C	ENST00000520309.1	+	4	1197	c.1109T>C	c.(1108-1110)tTt>tCt	p.F370S	ANKAR_ENST00000431575.2_Missense_Mutation_p.F299S|ANKAR_ENST00000438402.2_Missense_Mutation_p.F370S|ANKAR_ENST00000461516.1_Intron|ANKAR_ENST00000281412.6_Missense_Mutation_p.F134S|ANKAR_ENST00000313581.4_Missense_Mutation_p.F370S	NM_144708.3	NP_653309.3	Q7Z5J8	ANKAR_HUMAN	ankyrin and armadillo repeat containing	370						integral component of membrane (GO:0016021)				breast(3)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(16)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(2)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0256)|all cancers(119;0.0744)			TGCCAGAATTTTCACTACAAA	0.318																																						ENST00000520309.1																			0				breast(3)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(16)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(2)	46						c.(1108-1110)tTt>tCt		ankyrin and armadillo repeat containing							66	70	69					2																	190557050		2203	4299	6502	SO:0001583	missense	150709					integral to membrane	binding	g.chr2:190557050T>C	AJ549812	CCDS33351.1, CCDS33351.2	2q32.2	2013-02-14			ENSG00000151687	ENSG00000151687		"Ankyrin repeat domain containing", "Armadillo repeat containing"	26350	protein-coding gene	gene with protein product		609803				15110750	Standard	NM_144708		Approved	FLJ25415	uc002uqw.2	Q7Z5J8	OTTHUMG00000154398	ENST00000520309.1:c.1109T>C	2.37:g.190557050T>C	ENSP00000427882:p.Phe370Ser					ANKAR_ENST00000313581.4_Missense_Mutation_p.F370S|ANKAR_ENST00000431575.2_Missense_Mutation_p.F299S|ANKAR_ENST00000461516.1_Intron|ANKAR_ENST00000438402.2_Missense_Mutation_p.F370S|ANKAR_ENST00000281412.6_Missense_Mutation_p.F134S	p.F370S	NM_144708.3	NP_653309.3	Q7Z5J8	ANKAR_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0256)|all cancers(119;0.0744)		4	1197	+			370					Q3ZCS6|Q4G0M2|Q6ZU02	Missense_Mutation	SNP	ENST00000520309.1	37	c.1109T>C	CCDS33351.2	.	.	.	.	.	.	.	.	.	.	T	27.3	4.816161	0.90790	.	.	ENSG00000151687	ENST00000520309;ENST00000313581;ENST00000438402;ENST00000431575;ENST00000281412	T;T;T;T;T	0.61742	0.13;0.13;0.08;0.13;0.08	5.78	5.78	0.91487	.	0.266234	0.27016	N	0.021353	T	0.74435	0.3716	M	0.65498	2.005	0.47778	D	0.99951	D	0.76494	0.999	D	0.83275	0.996	T	0.76932	-0.2776	10	0.72032	D	0.01	-2.0555	15.1018	0.72284	0.0:0.0:0.0:1.0	.	370	Q7Z5J8	ANKAR_HUMAN	S	370;370;370;299;134	ENSP00000427882:F370S;ENSP00000313513:F370S;ENSP00000397243:F370S;ENSP00000393043:F299S;ENSP00000281412:F134S	ENSP00000281412:F134S	F	+	2	0	ANKAR	190265295	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.531000	0.67148	2.204000	0.70986	0.528000	0.53228	TTT		0.318	ANKAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335045.3	NM_144708		9	40	0	0	0	0.361761	0	9	40					C	190557050	T	C	190557050	3	2	224	1	0	0	0	0	1	0	0	0	623	1841	64	4	1119	4	ANKAR	2	190557050	Missense_Mutation	SNP	T	TCGA-HC-7819-01A-11D-2114-08	169325612	190557050	52642323	5	10320											
ANKAR	150709	broad.mit.edu	37	chr2	190584454	190584454	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctaatcaacctactggtttGtgatgagcctgaagtacact	11	13	8	9	0	2	3	1	3	1	0	2	3	2	3	2	1	4	2	2	1	5	4			TCGA-HC-7819-01A-11D-2114-08	TCGA-HC-7819-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	997549f6-8dde-4b4a-b477-609a535b301f	7f5954b3-ce60-414b-bd40-f46175ba19c4	g.chr2:190584454G>A	ENST00000520309.1	+	11	2469	c.2381G>A	c.(2380-2382)tGt>tAt	p.C794Y	ANKAR_ENST00000431575.2_Missense_Mutation_p.C723Y|ANKAR_ENST00000313581.4_Missense_Mutation_p.C794Y|ANKAR_ENST00000281412.6_Missense_Mutation_p.C558Y|ANKAR_ENST00000438402.2_Missense_Mutation_p.C794Y	NM_144708.3	NP_653309.3	Q7Z5J8	ANKAR_HUMAN	ankyrin and armadillo repeat containing	794						integral component of membrane (GO:0016021)				breast(3)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(16)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(2)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0256)|all cancers(119;0.0744)			CTACTGGTTTGTGATGAGCCT	0.398																																						ENST00000520309.1																			0				breast(3)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(16)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(2)	46						c.(2380-2382)tGt>tAt		ankyrin and armadillo repeat containing							138	121	127					2																	190584454		2203	4300	6503	SO:0001583	missense	150709					integral to membrane	binding	g.chr2:190584454G>A	AJ549812	CCDS33351.1, CCDS33351.2	2q32.2	2013-02-14			ENSG00000151687	ENSG00000151687		"Ankyrin repeat domain containing", "Armadillo repeat containing"	26350	protein-coding gene	gene with protein product		609803				15110750	Standard	NM_144708		Approved	FLJ25415	uc002uqw.2	Q7Z5J8	OTTHUMG00000154398	ENST00000520309.1:c.2381G>A	2.37:g.190584454G>A	ENSP00000427882:p.Cys794Tyr					ANKAR_ENST00000431575.2_Missense_Mutation_p.C723Y|ANKAR_ENST00000438402.2_Missense_Mutation_p.C794Y|ANKAR_ENST00000281412.6_Missense_Mutation_p.C558Y|ANKAR_ENST00000313581.4_Missense_Mutation_p.C794Y	p.C794Y	NM_144708.3	NP_653309.3	Q7Z5J8	ANKAR_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0256)|all cancers(119;0.0744)		11	2469	+			794					Q3ZCS6|Q4G0M2|Q6ZU02	Missense_Mutation	SNP	ENST00000520309.1	37	c.2381G>A	CCDS33351.2	.	.	.	.	.	.	.	.	.	.	G	3.373	-0.127930	0.06753	.	.	ENSG00000151687	ENST00000520309;ENST00000313581;ENST00000438402;ENST00000431575;ENST00000281412	T;T;T;T;T	0.29142	1.58;1.58;1.58;1.58;1.58	5.31	-0.157	0.13387	.	0.485745	0.19488	N	0.113042	T	0.09468	0.0233	N	0.03608	-0.345	0.09310	N	1	.	.	.	.	.	.	T	0.25745	-1.0123	8	0.19147	T	0.46	-4.9475	3.8457	0.08934	0.1989:0.5388:0.1223:0.1401	.	.	.	.	Y	794;794;794;723;558	ENSP00000427882:C794Y;ENSP00000313513:C794Y;ENSP00000397243:C794Y;ENSP00000393043:C723Y;ENSP00000281412:C558Y	ENSP00000281412:C558Y	C	+	2	0	ANKAR	190292699	0.090000	0.21635	0.001000	0.08648	0.056000	0.15407	0.984000	0.29565	-0.014000	0.14175	-0.878000	0.02970	TGT		0.398	ANKAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335045.3	NM_144708		23	41	0	0	0	0.654019	0	23	41					A	190584454	G	A	190584454	3	1	224	1	0	0	0	0	1	0	0	0	623	1377	48	3	2419	3	ANKAR	2	190584454	Missense_Mutation	SNP	G	TCGA-HC-7819-01A-11D-2114-08	27404	190584454	52614919	6	10321											
PIKFYVE	200576	broad.mit.edu	37	chr2	209163430	209163439	+	Frame_Shift_Del	DEL	CATCTGTCAG	CATCTGTCAG	-																															tatggtaccttcatatgagaCatctgtcagtccccaggcta																								rs150646524	byFrequency	TCGA-HC-7819-01A-11D-2114-08	TCGA-HC-7819-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	997549f6-8dde-4b4a-b477-609a535b301f	7f5954b3-ce60-414b-bd40-f46175ba19c4	g.chr2:209163430_209163439delCATCTGTCAG	ENST00000264380.4	+	8	1135_1144	c.977_986delCATCTGTCAG	c.(976-987)acatctgtcagtfs	p.TSVS326fs	PIKFYVE_ENST00000308862.6_Frame_Shift_Del_p.TSVS240fs|PIKFYVE_ENST00000392202.3_Frame_Shift_Del_p.TSVS229fs|PIKFYVE_ENST00000407449.1_Frame_Shift_Del_p.TSVS326fs	NM_015040.3	NP_055855.2	Q9Y2I7	FYV1_HUMAN	phosphoinositide kinase, FYVE finger containing	326					cellular protein metabolic process (GO:0044267)|intracellular signal transduction (GO:0035556)|myelin assembly (GO:0032288)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phospholipid metabolic process (GO:0006644)|protein localization to nucleus (GO:0034504)|retrograde transport, endosome to Golgi (GO:0042147)|small molecule metabolic process (GO:0044281)	cell-cell junction (GO:0005911)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|early endosome membrane (GO:0031901)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|late endosome membrane (GO:0031902)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|vesicle membrane (GO:0012506)	1-phosphatidylinositol-3-phosphate 5-kinase activity (GO:0000285)|1-phosphatidylinositol-4-phosphate 5-kinase activity (GO:0016308)|ATP binding (GO:0005524)|phosphatidylinositol-3,5-bisphosphate 5-phosphatase activity (GO:0043813)|zinc ion binding (GO:0008270)	p.S327F(1)		NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(14)|kidney(6)|large_intestine(25)|lung(40)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	107						TCATATGAGACATCTGTCAGTCCCCAGGCT	0.429																																						ENST00000264380.4																			1	Substitution - Missense(1)	p.S327F(1)	lung(1)	NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(14)|kidney(6)|large_intestine(25)|lung(40)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	107						c.(976-987)atfs		phosphoinositide kinase, FYVE finger containing																																				SO:0001589	frameshift_variant	200576				cellular protein metabolic process|intracellular signal transduction|protein localization to nucleus|retrograde transport, endosome to Golgi	early endosome membrane|membrane raft	1-phosphatidylinositol-3-phosphate 5-kinase activity|1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|metal ion binding|protein binding	g.chr2:209163430_209163439delCATCTGTCAG	AB023198	CCDS2382.1, CCDS33368.1, CCDS54431.1	2q34	2014-01-15	2009-04-17	2009-04-17	ENSG00000115020	ENSG00000115020		"Zinc fingers, FYVE domain containing"	23785	protein-coding gene	gene with protein product	"zinc finger, FYVE domain containing 29"	609414	"phosphatidylinositol-3-phosphate/phosphatidylinositol 5-kinase, type III"	PIP5K3		9858586, 12270933	Standard	NM_015040		Approved	MGC40423, KIAA0981, PIKfyve, PIP5K, p235, ZFYVE29, FAB1	uc002vcz.3	Q9Y2I7	OTTHUMG00000132945	ENST00000264380.4:c.977_986delCATCTGTCAG	2.37:g.209163430_209163439delCATCTGTCAG	ENSP00000264380:p.Thr326fs					PIKFYVE_ENST00000392202.3_Frame_Shift_Del_p.TSVS229fs|PIKFYVE_ENST00000407449.1_Frame_Shift_Del_p.TSVS326fs|PIKFYVE_ENST00000308862.6_Frame_Shift_Del_p.TSVS240fs	p.TSVS326fs	NM_015040.3	NP_055855.2	Q9Y2I7	FYV1_HUMAN			8	1135_1144	+			326					Q08AR7|Q08AR8|Q53ST3|Q53T36|Q8N5H0|Q8NB67	Frame_Shift_Del	DEL	ENST00000264380.4	37	c.977_986delCATCTGTCAG	CCDS2382.1																																																																																				0.429	PIKFYVE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256477.2	NM_015040		23	62						23	62	---	---	---	---	-	209163439	CATCTGTCAG	-	209163430	7	5	224	1	0	1	0	1	0	0	0	0	11924	478	17	0	1003	0	PIKFYVE	2	209163430	Frame_Shift_Del	DEL	CATCTGTCAG	TCGA-HC-7819-01A-11D-2114-08	18578976	209163430	34035943	7	10322											
GPR128	84873	broad.mit.edu	37	chr3	100368589	100368589	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcacttgacatattatccaaCgttggatgtgcactgtctgt	9	15	8	9	1	2	1	1	1	1	0	3	2	3	2	1	1	2	2	1	1	3	4	rs373912284		TCGA-HC-7819-01A-11D-2114-08	TCGA-HC-7819-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	997549f6-8dde-4b4a-b477-609a535b301f	7f5954b3-ce60-414b-bd40-f46175ba19c4	g.chr3:100368589C>T	ENST00000273352.3	+	11	1585	c.1317C>T	c.(1315-1317)aaC>aaT	p.N439N	GPR128_ENST00000475887.1_Silent_p.N144N	NM_032787.2	NP_116176.2	Q96K78	GP128_HUMAN	G protein-coupled receptor 128	439					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	56						TATTATCCAACGTTGGATGTG	0.373																																					Pancreas(87;185 1975 7223 18722)	ENST00000273352.3																			0				NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	56						c.(1315-1317)aaC>aaT		G protein-coupled receptor 128		C		0,4406		0,0,2203	137	129	132		1317	-11	0	3		132	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	GPR128	NM_032787.2		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		439/798	100368589	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	84873				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr3:100368589C>T	AK027360	CCDS2938.1	3q12.3	2014-08-08			ENSG00000144820	ENSG00000144820		"-", "GPCR / Class B : Orphans"	19241	protein-coding gene	gene with protein product		612307					Standard	NM_032787		Approved	FLJ14454	uc003duc.3	Q96K78	OTTHUMG00000159083	ENST00000273352.3:c.1317C>T	3.37:g.100368589C>T						GPR128_ENST00000475887.1_Silent_p.N144N	p.N439N	NM_032787.2	NP_116176.2	Q96K78	GP128_HUMAN			11	1585	+			439					Q14D94|Q86SQ2	Silent	SNP	ENST00000273352.3	37	c.1317C>T	CCDS2938.1																																																																																				0.373	GPR128-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353236.1			5	110	0	0	0	0.248553	0	5	110					T	100368589	C	T	100368589	2	4	224	1	0	0	0	0	0	0	0	1	6641	535	19	1		1	GPR128	3	100368589	Silent	SNP	C	TCGA-HC-7819-01A-11D-2114-08		100368589	97653841	8	10323											
CP	1356	broad.mit.edu	37	chr3	148924112	148924112	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	acactcctggacctggaaaaAggcttgcaaaccggctgaaa	14	6	10	11	1	0	1	0	1	0	0	1	3	1	3	3	4	2	3	3	4	4	1			TCGA-HC-7819-01A-11D-2114-08	TCGA-HC-7819-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	997549f6-8dde-4b4a-b477-609a535b301f	7f5954b3-ce60-414b-bd40-f46175ba19c4	g.chr3:148924112A>G	ENST00000264613.6	-	6	1313	c.1051T>C	c.(1051-1053)Ttt>Ctt	p.F351L		NM_000096.3	NP_000087	P00450	CERU_HUMAN	ceruloplasmin (ferroxidase)	351	F5/8 type A 1.|Plastocyanin-like 2.				cellular iron ion homeostasis (GO:0006879)|copper ion transport (GO:0006825)|transmembrane transport (GO:0055085)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)	chaperone binding (GO:0051087)|copper ion binding (GO:0005507)|ferroxidase activity (GO:0004322)			breast(6)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		Prostate(884;0.00217)|Hepatocellular(537;0.00826)|Myeloproliferative disorder(1037;0.0122)|all_neural(597;0.0189)|Melanoma(1037;0.152)	LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)		Drotrecogin alfa(DB00055)	ACCTGGAAAAAGGCTTGCAAA	0.433																																						ENST00000264613.6																			0				breast(6)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						c.(1051-1053)Ttt>Ctt		ceruloplasmin (ferroxidase)	Drotrecogin alfa(DB00055)						110	109	109					3																	148924112		2203	4300	6503	SO:0001583	missense	1356				cellular iron ion homeostasis|copper ion transport|transmembrane transport	extracellular space	chaperone binding|ferroxidase activity	g.chr3:148924112A>G	M13536	CCDS3141.1	3q23-q25	2010-07-01			ENSG00000047457	ENSG00000047457	1.16.3.1		2295	protein-coding gene	gene with protein product		117700					Standard	NM_000096		Approved		uc003ewy.4	P00450	OTTHUMG00000159563	ENST00000264613.6:c.1051T>C	3.37:g.148924112A>G	ENSP00000264613:p.Phe351Leu						p.F351L	NM_000096.3	NP_000087.1	P00450	CERU_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)		6	1313	-		Prostate(884;0.00217)|Hepatocellular(537;0.00826)|Myeloproliferative disorder(1037;0.0122)|all_neural(597;0.0189)|Melanoma(1037;0.152)	351			F5/8 type A 1.|Plastocyanin-like 2.		Q14063|Q2PP18|Q9UKS4	Missense_Mutation	SNP	ENST00000264613.6	37	c.1051T>C	CCDS3141.1	.	.	.	.	.	.	.	.	.	.	A	6.550	0.469792	0.12461	.	.	ENSG00000047457	ENST00000264613;ENST00000494544	D;D	0.82081	-1.57;-1.57	5.81	5.81	0.92471	Cupredoxin (2);Multicopper oxidase, type 1 (1);	0.228465	0.46758	D	0.000267	T	0.63141	0.2486	N	0.12502	0.225	0.41867	D	0.990256	B;B;B;B	0.24258	0.045;0.045;0.045;0.1	B;B;B;B	0.26864	0.074;0.05;0.074;0.057	T	0.58858	-0.7562	10	0.07482	T	0.82	-28.9754	5.0512	0.14508	0.7516:0.0:0.0869:0.1615	.	351;351;351;351	A5PL27;A8K5A4;P00450;Q1L857	.;.;CERU_HUMAN;.	L	351;134	ENSP00000264613:F351L;ENSP00000420545:F134L	ENSP00000264613:F351L	F	-	1	0	CP	150406802	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	3.782000	0.55401	2.224000	0.72417	0.533000	0.62120	TTT		0.433	CP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317498.1	NM_000096		3	140	0	0	0	0.184627	0	3	140					G	148924112	A	G	148924112	3	3	224	1	0	0	0	0	1	0	0	0	3787	72	3	4	2202	4	CP	3	148924112	Missense_Mutation	SNP	A	TCGA-HC-7819-01A-11D-2114-08	48555523	148924112	49098318	9	10324											
ANK2	287	broad.mit.edu	37	chr4	114277273	114277273	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgccaaaacagaactcttgaCggaagtggcctctgtgcggt	10	9	12	10	2	2	2	0	1	2	1	2	3	2	3	2	3	4	0	2	3	4	1	rs200377748		TCGA-HC-7819-01A-11D-2114-08	TCGA-HC-7819-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	997549f6-8dde-4b4a-b477-609a535b301f	7f5954b3-ce60-414b-bd40-f46175ba19c4	g.chr4:114277273C>T	ENST00000357077.4	+	38	7552	c.7499C>T	c.(7498-7500)aCg>aTg	p.T2500M	ANK2_ENST00000264366.6_Missense_Mutation_p.T2467M|ANK2_ENST00000509550.1_Intron|ANK2_ENST00000394537.3_Intron|ANK2_ENST00000510275.2_Intron|ANK2_ENST00000506722.1_Intron	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	2500					atrial cardiac muscle cell action potential (GO:0086014)|atrial cardiac muscle cell to AV node cell communication (GO:0086066)|atrial septum development (GO:0003283)|axon guidance (GO:0007411)|cardiac muscle contraction (GO:0060048)|cellular calcium ion homeostasis (GO:0006874)|cellular protein localization (GO:0034613)|membrane depolarization during SA node cell action potential (GO:0086046)|paranodal junction assembly (GO:0030913)|positive regulation of calcium ion transmembrane transporter activity (GO:1901021)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cation channel activity (GO:2001259)|positive regulation of gene expression (GO:0010628)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein localization to cell surface (GO:0034394)|protein localization to endoplasmic reticulum (GO:0070972)|protein localization to M-band (GO:0036309)|protein localization to organelle (GO:0033365)|protein localization to plasma membrane (GO:0072659)|protein localization to T-tubule (GO:0036371)|protein stabilization (GO:0050821)|protein targeting to plasma membrane (GO:0072661)|regulation of calcium ion transmembrane transporter activity (GO:1901019)|regulation of calcium ion transport (GO:0051924)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to methylmercury (GO:0051597)|SA node cell action potential (GO:0086015)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|T-tubule organization (GO:0033292)|ventricular cardiac muscle cell action potential (GO:0086005)	A band (GO:0031672)|basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intracellular (GO:0005622)|M band (GO:0031430)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|potassium channel regulator activity (GO:0015459)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		GAACTCTTGACGGAAGTGGCC	0.532													C|||	1	0.000199681	0	0	5008	,	,		19609	0.001		0	False		,,,				2504	0					ENST00000357077.4																			0				NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248						c.(7498-7500)aCg>aTg		ankyrin 2, neuronal							71	73	72					4																	114277273		2203	4300	6503	SO:0001583	missense	287				axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding	g.chr4:114277273C>T	M37123	CCDS3702.1, CCDS43261.1, CCDS54796.1	4q25-q26	2014-09-17	2003-03-12		ENSG00000145362	ENSG00000145362		"Ankyrin repeat domain containing"	493	protein-coding gene	gene with protein product		106410	"long (electrocardiographic) QT syndrome 4"	LQT4		7485162, 12571597	Standard	NM_001148		Approved		uc003ibe.4	Q01484	OTTHUMG00000132912	ENST00000357077.4:c.7499C>T	4.37:g.114277273C>T	ENSP00000349588:p.Thr2500Met					ANK2_ENST00000510275.2_Intron|ANK2_ENST00000394537.3_Intron|ANK2_ENST00000509550.1_Intron|ANK2_ENST00000506722.1_Intron|ANK2_ENST00000264366.6_Missense_Mutation_p.T2467M	p.T2500M	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)	38	7552	+		Ovarian(17;0.0448)|Hepatocellular(203;0.218)	2467					Q01485|Q08AC7|Q08AC8|Q7Z3L5	Missense_Mutation	SNP	ENST00000357077.4	37	c.7499C>T	CCDS3702.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	0.922	-0.715618	0.03206	.	.	ENSG00000145362	ENST00000357077;ENST00000264366	T;T	0.67345	-0.25;-0.26	5.99	4.25	0.50352	.	0.891322	0.09615	N	0.778311	T	0.70945	0.3282	L	0.53249	1.67	0.32150	N	0.584359	D;B	0.54772	0.968;0.008	P;B	0.47528	0.549;0.003	T	0.71122	-0.4684	9	.	.	.	.	17.5385	0.87840	0.0:0.9332:0.0:0.0668	.	2467;2500	Q01484;Q01484-4	ANK2_HUMAN;.	M	2500;2467	ENSP00000349588:T2500M;ENSP00000264366:T2467M	.	T	+	2	0	ANK2	114496722	0.006000	0.16342	0.001000	0.08648	0.030000	0.12068	2.038000	0.41184	0.855000	0.35359	-1.063000	0.02288	ACG		0.532	ANK2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256422.2	NM_001148		13	91	0	0	0	0.435327	0	13	91					T	114277273	C	T	114277273	3	4	224	1	0	0	0	0	1	0	0	0	621	536	19	1	7714	1	ANK2	4	114277273	Missense_Mutation	SNP	C	TCGA-HC-7819-01A-11D-2114-08		114277273	76877003	10	10325											
APC	324	broad.mit.edu	37	chr5	112175599	112175600	+	Frame_Shift_Ins	INS	-	-	A																															ccatgccaccaagcagaagtINSaaaacacctccaccacctcc																										TCGA-HC-7819-01A-11D-2114-08	TCGA-HC-7819-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	997549f6-8dde-4b4a-b477-609a535b301f	7f5954b3-ce60-414b-bd40-f46175ba19c4	g.chr5:112175599_112175600insA	ENST00000457016.1	+	16	4688_4689	c.4308_4309insA	c.(4309-4311)aaafs	p.K1437fs	APC_ENST00000508376.2_Frame_Shift_Ins_p.K1437fs|CTC-554D6.1_ENST00000520401.1_Intron|APC_ENST00000257430.4_Frame_Shift_Ins_p.K1437fs			P25054	APC_HUMAN	adenomatous polyposis coli	1437	Ser-rich.				anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|axis specification (GO:0009798)|axonogenesis (GO:0007409)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|canonical Wnt signaling pathway involved in positive regulation of apoptotic process (GO:0044337)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to DNA damage stimulus (GO:0006974)|chromosome organization (GO:0051276)|cytoplasmic microtubule organization (GO:0031122)|dorsal/ventral pattern formation (GO:0009953)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cytokinesis (GO:0000281)|mitotic spindle assembly checkpoint (GO:0007094)|muscle cell cellular homeostasis (GO:0046716)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of odontogenesis (GO:0042483)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell division (GO:0051781)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of pseudopodium assembly (GO:0031274)|protein complex assembly (GO:0006461)|proximal/distal pattern formation (GO:0009954)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|regulation of microtubule-based process (GO:0032886)|regulation of nitrogen compound metabolic process (GO:0051171)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoclast differentiation (GO:0045670)|retina development in camera-type eye (GO:0060041)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tight junction assembly (GO:0070830)	axonal growth cone (GO:0044295)|beta-catenin destruction complex (GO:0030877)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|kinetochore (GO:0000776)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|microtubule plus-end (GO:0035371)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)	beta-catenin binding (GO:0008013)|gamma-catenin binding (GO:0045295)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|protein kinase binding (GO:0019901)|protein kinase regulator activity (GO:0019887)	p.S1436fs*37(3)|p.?(1)|p.P1424fs*19(1)|p.K1192fs*3(1)|p.P1432fs*35(1)|p.S1436fs*36(1)|p.S1436fs*33(1)|p.S1436fs*22(1)|p.K1437*(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		CAAGCAGAAGTAAAACACCTCC	0.48		12	"D, Mis, N, F, S"		"colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"	"colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)																											NSCLC(107;854 1218 9699 17025 28335 47076 52975)|Esophageal Squamous(32;282 584 32991 36563 39392 49665 50115)	ENST00000457016.1		12	yes	Rec	yes	Adenomatous polyposis coli; Turcot syndrome	5	5q21	324	"D, Mis, N, F, S"	adenomatous polyposis of the colon gene			"E, M, O"		"colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"	"colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"		11	Deletion - Frameshift(9)|Substitution - Nonsense(1)|Unknown(1)	p.S1436fs*37(3)|p.?(1)|p.P1424fs*19(1)|p.K1192fs*3(1)|p.P1432fs*35(1)|p.S1436fs*36(1)|p.S1436fs*33(1)|p.S1436fs*22(1)|p.K1437*(1)	large_intestine(9)|soft_tissue(1)|skin(1)	NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261	GRCh37	CD084027	APC	D		c.(4306-4311)agaaacfs		adenomatous polyposis coli																																				SO:0001589	frameshift_variant	324	Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome;Familial Infiltrative Mesenteric Fibromatosis;FAP, incl.: Gardner s., Attenuated FAP, Flat Adenoma s., Oldfield s,	canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly	adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction	beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity	g.chr5:112175599_112175600insA	M74088	CCDS4107.1	5q21-q22	2014-09-17	2008-01-08		ENSG00000134982	ENSG00000134982		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "Armadillo repeat containing"	583	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 46"	611731	"adenomatosis polyposis coli"			1651563	Standard	NM_001127511		Approved	DP2, DP3, DP2.5, PPP1R46	uc003kpy.4	P25054	OTTHUMG00000128806	ENST00000457016.1:c.4312dupA	5.37:g.112175603_112175603dupA	ENSP00000413133:p.Lys1437fs	TSP Lung(16;0.13)				APC_ENST00000508376.2_Frame_Shift_Ins_p.N1437fs|APC_ENST00000257430.4_Frame_Shift_Ins_p.N1437fs|CTC-554D6.1_ENST00000520401.1_Intron	p.N1437fs			P25054	APC_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)	16	4688_4689	+		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)	1437			Ser-rich.		D3DT03|Q15162|Q15163|Q93042	Frame_Shift_Ins	INS	ENST00000457016.1	37	c.4308_4309insA	CCDS4107.1																																																																																				0.48	APC-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250738.2	NM_000038		7	58						7	58	---	---	---	---	A	112175600	-	A	112175599	7	5	224	1	0	1	1	0	0	0	0	0	763	1635	57	0	4366	0	APC	5	112175599	Frame_Shift_Ins	INS	-	TCGA-HC-7819-01A-11D-2114-08		112175599	68739661	11	10326											
FAT2	2196	broad.mit.edu	37	chr5	150922048	150922048	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatagctggatggtctgtccGtggtcataggccaccacatg	8	10	13	10	1	2	0	1	0	1	0	3	2	3	1	3	4	1	1	3	4	2	2			TCGA-HC-7819-01A-11D-2114-08	TCGA-HC-7819-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	997549f6-8dde-4b4a-b477-609a535b301f	7f5954b3-ce60-414b-bd40-f46175ba19c4	g.chr5:150922048G>A	ENST00000261800.5	-	9	8652	c.8640C>T	c.(8638-8640)caC>caT	p.H2880H		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	2880	Cadherin 25. {ECO:0000255|PROSITE- ProRule:PRU00043}.				epithelial cell migration (GO:0010631)|homophilic cell adhesion (GO:0007156)	cell-cell adherens junction (GO:0005913)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TGGTCTGTCCGTGGTCATAGG	0.493																																						ENST00000261800.5																			0				NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196						c.(8638-8640)caC>caT		FAT atypical cadherin 2							163	153	157					5																	150922048		2203	4300	6503	SO:0001819	synonymous_variant	2196				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding	g.chr5:150922048G>A	AF231022	CCDS4317.1	5q33.1	2014-07-21	2013-05-31		ENSG00000086570	ENSG00000086570		"Cadherins / Cadherin-related"	3596	protein-coding gene	gene with protein product	"cadherin-related family member 9"	604269	"FAT tumor suppressor (Drosophila) homolog 2", "FAT tumor suppressor homolog 2 (Drosophila)"			9693030	Standard	NM_001447		Approved	MEGF1, CDHF8, HFAT2, CDHR9	uc003lue.4	Q9NYQ8	OTTHUMG00000130126	ENST00000261800.5:c.8640C>T	5.37:g.150922048G>A							p.H2880H	NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		9	8652	-		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	2880			Cadherin 25.		O75091|Q9NSR7	Silent	SNP	ENST00000261800.5	37	c.8640C>T	CCDS4317.1																																																																																				0.493	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252434.1	NM_001447		4	144	0	0	0	0.184627	0	4	144					A	150922048	G	A	150922048	2	1	224	1	0	0	0	0	0	0	0	1	5690	1136	40	1		1	FAT2	5	150922048	Silent	SNP	G	TCGA-HC-7819-01A-11D-2114-08	38746449	150922048	29993212	12	10327											
GALNT10	55568	broad.mit.edu	37	chr5	153760070	153760070	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttgatgtaattgaccatgacGactttcggtacgagacacag	12	11	10	8	3	0	4	0	3	0	1	1	6	0	4	1	1	1	2	1	1	2	5			TCGA-HC-7819-01A-11D-2114-08	TCGA-HC-7819-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	997549f6-8dde-4b4a-b477-609a535b301f	7f5954b3-ce60-414b-bd40-f46175ba19c4	g.chr5:153760070G>A	ENST00000297107.6	+	6	954	c.817G>A	c.(817-819)Gac>Aac	p.D273N	SAP30L-AS1_ENST00000519727.1_RNA|GALNT10_ENST00000377661.2_Missense_Mutation_p.D211N|GALNT10_ENST00000519544.1_3'UTR|GALNT10_ENST00000425427.2_Missense_Mutation_p.D273N	NM_198321.3	NP_938080.1	Q86SR1	GLT10_HUMAN	polypeptide N-acetylgalactosaminyltransferase 10	273					cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(12)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	32	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)|all_hematologic(541;0.21)	Kidney(363;8.21e-05)|KIRC - Kidney renal clear cell carcinoma(527;0.000577)			TGACCATGACGACTTTCGGTA	0.532																																						ENST00000297107.6																			0				cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(12)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	32						c.(817-819)Gac>Aac		UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 10 (GalNAc-T10)							202	178	186					5																	153760070		2203	4300	6503	SO:0001583	missense	55568					Golgi membrane|integral to membrane	metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr5:153760070G>A	AK023782	CCDS4325.1	5q34	2014-03-13	2014-03-13		ENSG00000164574	ENSG00000164574	2.4.1.41	"Glycosyltransferase family 2 domain containing"	19873	protein-coding gene	gene with protein product	"polypeptide GalNAc transferase 10"	608043	"UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 10 (GalNAc-T10)"			12417297	Standard	NM_198321		Approved	GalNAc-T10	uc003lvh.3	Q86SR1	OTTHUMG00000130145	ENST00000297107.6:c.817G>A	5.37:g.153760070G>A	ENSP00000297107:p.Asp273Asn					SAP30L-AS1_ENST00000519727.1_RNA|GALNT10_ENST00000377661.2_Missense_Mutation_p.D211N|GALNT10_ENST00000425427.2_Missense_Mutation_p.D273N|GALNT10_ENST00000519544.1_3'UTR	p.D273N	NM_198321.3	NP_938080.1	Q86SR1	GLT10_HUMAN	Kidney(363;8.21e-05)|KIRC - Kidney renal clear cell carcinoma(527;0.000577)		6	954	+	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)|all_hematologic(541;0.21)	273					B3KXC9|Q6IN56|Q86VP8|Q8IXJ2|Q8TEJ2|Q96IV2|Q9H8E1|Q9Y4M4	Missense_Mutation	SNP	ENST00000297107.6	37	c.817G>A	CCDS4325.1	.	.	.	.	.	.	.	.	.	.	G	2.665	-0.278898	0.05642	.	.	ENSG00000164574	ENST00000425427;ENST00000297107;ENST00000377661	T;T;T	0.59364	0.27;0.27;0.27	5.59	4.71	0.59529	Glycosyl transferase, family 2 (1);	0.089022	0.85682	D	0.000000	T	0.31827	0.0809	N	0.04724	-0.175	0.80722	D	1	B;B;B	0.18461	0.001;0.014;0.028	B;B;B	0.10450	0.003;0.005;0.005	T	0.15809	-1.0424	10	0.28530	T	0.3	.	7.8429	0.29408	0.0965:0.2897:0.6138:0.0	.	211;273;273	Q86SR1-2;Q86SR1;Q86SR1-3	.;GLT10_HUMAN;.	N	273;273;211	ENSP00000415210:D273N;ENSP00000297107:D273N;ENSP00000366889:D211N	ENSP00000297107:D273N	D	+	1	0	GALNT10	153740263	1.000000	0.71417	0.987000	0.45799	0.324000	0.28378	4.258000	0.58822	2.637000	0.89404	0.462000	0.41574	GAC		0.532	GALNT10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252453.1	NM_198321		17	185	0	0	0	0.575678	0	17	185					A	153760070	G	A	153760070	3	1	224	1	0	0	0	0	1	0	0	0	6208	1058	37	2	839	2	GALNT10	5	153760070	Missense_Mutation	SNP	G	TCGA-HC-7819-01A-11D-2114-08	2838022	153760070	27155190	13	10328											
STK19	8859	broad.mit.edu	37	chr6	31946702	31946702	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagcttcaagagcagggggAgatcagaatcgtccagctgg	11	6	16	8	1	2	3	2	0	0	3	4	5	3	4	1	4	3	3	1	4	2	1			TCGA-HC-7819-01A-11D-2114-08	TCGA-HC-7819-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	997549f6-8dde-4b4a-b477-609a535b301f	7f5954b3-ce60-414b-bd40-f46175ba19c4	g.chr6:31946702A>G	ENST00000375333.2	+	4	643	c.590A>G	c.(589-591)gAg>gGg	p.E197G	STK19_ENST00000375331.2_Missense_Mutation_p.E197G|STK19_ENST00000463823.1_3'UTR	NM_032454.1	NP_115830.1	P49842	STK19_HUMAN	serine/threonine kinase 19	197				QGE -> GQR (in Ref. 6; AAA99716). {ECO:0000305}.	protein phosphorylation (GO:0006468)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			skin(5)|upper_aerodigestive_tract(2)	7						GAGCAGGGGGAGATCAGAATC	0.532																																						ENST00000375331.2																			0				skin(5)|upper_aerodigestive_tract(2)	7						c.(589-591)gAg>gGg		serine/threonine kinase 19							78	75	76					6																	31946702		1510	2708	4218	SO:0001583	missense	8859					nucleus	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr6:31946702A>G	X77474	CCDS4733.1, CCDS34417.1	6p21.33	2011-09-15			ENSG00000204344	ENSG00000204344			11398	protein-coding gene	gene with protein product		604977				8012361, 9812991	Standard	NM_032454		Approved	D6S60, G11, RP1	uc003nyv.3	P49842	OTTHUMG00000166424	ENST00000375333.2:c.590A>G	6.37:g.31946702A>G	ENSP00000364482:p.Glu197Gly					STK19_ENST00000463823.1_3'UTR|STK19_ENST00000375333.2_Missense_Mutation_p.E197G	p.E197G	NM_004197.1	NP_004188.1	P49842	STK19_HUMAN			4	756	+			197	QGE -> GQR (in Ref. 6; AAA99716).				A6NF95|A6NFW8|B0QZR5|Q13159|Q31617|Q5JP77|Q5ST72|Q5ST75	Missense_Mutation	SNP	ENST00000375333.2	37	c.590A>G	CCDS4733.1	.	.	.	.	.	.	.	.	.	.	A	18.56	3.649733	0.67358	.	.	ENSG00000204344	ENST00000375331;ENST00000375333	T;T	0.31510	1.49;1.49	4.86	4.86	0.63082	.	0.117044	0.56097	D	0.000032	T	0.36524	0.0970	L	0.56769	1.78	0.52501	D	0.999957	D;D;D;D	0.89917	0.999;0.988;1.0;0.979	D;P;D;P	0.79784	0.986;0.871;0.993;0.828	T	0.10847	-1.0612	10	0.30078	T	0.28	-30.8272	10.7592	0.46256	1.0:0.0:0.0:0.0	.	154;197;197;154	C9IZ87;P49842-2;P49842;B7ZLI8	.;.;STK19_HUMAN;.	G	197	ENSP00000364480:E197G;ENSP00000364482:E197G	ENSP00000364480:E197G	E	+	2	0	STK19	32054681	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.720000	0.54933	2.043000	0.60533	0.482000	0.46254	GAG		0.532	STK19-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000076484.3			3	66	0	0	0	0.115264	0	3	66					G	31946702	A	G	31946702	3	3	224	1	0	0	0	0	1	0	0	0	15291	304	11	4	604	4	STK19	6	31946702	Missense_Mutation	SNP	A	TCGA-HC-7819-01A-11D-2114-08		31946702	139168365	14	10329											
SEMA3A	10371	broad.mit.edu	37	chr7	83640389	83640389	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gatttttaggatctttaaagTtcattaggaatacatcctct	12	17	6	6	0	3	0	1	0	2	0	4	3	4	2	1	2	1	1	1	2	6	8			TCGA-HC-7819-01A-11D-2114-08	TCGA-HC-7819-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	997549f6-8dde-4b4a-b477-609a535b301f	7f5954b3-ce60-414b-bd40-f46175ba19c4	g.chr7:83640389T>G	ENST00000265362.4	-	9	1258	c.944A>C	c.(943-945)aAc>aCc	p.N315T	SEMA3A_ENST00000436949.1_Missense_Mutation_p.N315T	NM_006080.2	NP_006071.1	Q14563	SEM3A_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A	315	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				apoptotic process (GO:0006915)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|axonogenesis involved in innervation (GO:0060385)|branchiomotor neuron axon guidance (GO:0021785)|dendrite morphogenesis (GO:0048813)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|facial nerve structural organization (GO:0021612)|gonadotrophin-releasing hormone neuronal migration to the hypothalamus (GO:0021828)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of epithelial cell migration (GO:0010633)|nerve development (GO:0021675)|neural crest cell migration involved in autonomic nervous system development (GO:1901166)|neural crest cell migration involved in sympathetic nervous system development (GO:1903045)|neuron migration (GO:0001764)|olfactory bulb development (GO:0021772)|positive regulation of male gonad development (GO:2000020)|positive regulation of neuron migration (GO:2001224)|regulation of axon extension involved in axon guidance (GO:0048841)|regulation of heart rate (GO:0002027)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|semaphorin-plexin signaling pathway involved in neuron projection guidance (GO:1902285)|sensory system development (GO:0048880)|sympathetic ganglion development (GO:0061549)|sympathetic nervous system development (GO:0048485)|sympathetic neuron projection extension (GO:0097490)|sympathetic neuron projection guidance (GO:0097491)|trigeminal nerve structural organization (GO:0021637)	axon (GO:0030424)|dendrite (GO:0030425)|extracellular region (GO:0005576)|membrane (GO:0016020)	chemorepellent activity (GO:0045499)|neuropilin binding (GO:0038191)|receptor activity (GO:0004872)			breast(3)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53						ATCTTTAAAGTTCATTAGGAA	0.299																																						ENST00000265362.3																			0				breast(3)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53						c.(943-945)aAc>aCc		sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A							60	64	62					7																	83640389		2202	4300	6502	SO:0001583	missense	10371				axon guidance	extracellular region|membrane	receptor activity	g.chr7:83640389T>G	L26081	CCDS5599.1	7p12.1	2013-01-11			ENSG00000075213	ENSG00000075213		"Semaphorins", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	10723	protein-coding gene	gene with protein product	"sema III"	603961		SEMAD		8269517, 7748561	Standard	NM_006080		Approved	SEMA1, SemD, coll-1, Hsema-I	uc003uhz.3	Q14563	OTTHUMG00000023443	ENST00000265362.4:c.944A>C	7.37:g.83640389T>G	ENSP00000265362:p.Asn315Thr					SEMA3A_ENST00000436949.1_Missense_Mutation_p.N315T	p.N315T	NM_006080.2	NP_006071.1	Q14563	SEM3A_HUMAN			9	1258	-			315			Sema.			Missense_Mutation	SNP	ENST00000265362.4	37	c.944A>C	CCDS5599.1	.	.	.	.	.	.	.	.	.	.	T	13.35	2.210600	0.39102	.	.	ENSG00000075213	ENST00000265362;ENST00000436949	T;T	0.10288	2.89;2.89	5.97	5.97	0.96955	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.038935	0.85682	D	0.000000	T	0.09862	0.0242	N	0.25957	0.775	0.46725	D	0.999179	B	0.17667	0.023	B	0.22880	0.042	T	0.26224	-1.0109	10	0.19590	T	0.45	.	16.4383	0.83889	0.0:0.0:0.0:1.0	.	315	Q14563	SEM3A_HUMAN	T	315	ENSP00000265362:N315T;ENSP00000415260:N315T	ENSP00000265362:N315T	N	-	2	0	SEMA3A	83478325	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	4.321000	0.59209	2.287000	0.76781	0.482000	0.46254	AAC		0.299	SEMA3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253355.2	NM_006080		6	44	0	0	0	0.217242	0	6	44					G	83640389	T	G	83640389	3	3	224	1	0	0	0	0	1	0	0	0	14024	1725	60	5	1407	5	SEMA3A	7	83640389	Missense_Mutation	SNP	T	TCGA-HC-7819-01A-11D-2114-08		83640389	75498274	15	10330											
CCDC132	55610	broad.mit.edu	37	chr7	92883177	92883177	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gaatttttttctgtagaagcTtccacctgttctcaatttgc	8	18	6	9	0	2	1	1	0	2	1	4	2	3	1	2	0	2	3	2	0	4	7			TCGA-HC-7819-01A-11D-2114-08	TCGA-HC-7819-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	997549f6-8dde-4b4a-b477-609a535b301f	7f5954b3-ce60-414b-bd40-f46175ba19c4	g.chr7:92883177T>G	ENST00000305866.5	+	4	358	c.230T>G	c.(229-231)cTt>cGt	p.L77R	CCDC132_ENST00000251739.5_Missense_Mutation_p.L77R|CCDC132_ENST00000317751.6_5'UTR|CCDC132_ENST00000541136.1_5'UTR|CCDC132_ENST00000544910.1_Missense_Mutation_p.L47R|CCDC132_ENST00000535481.1_Intron	NM_017667.3	NP_060137.2	Q96JG6	CC132_HUMAN	coiled-coil domain containing 132	77						extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)				endometrium(1)|large_intestine(2)|lung(5)	8	all_cancers(62;2.64e-11)|all_epithelial(64;1.4e-10)|Breast(17;0.000675)|Lung NSC(181;0.0618)|all_lung(186;0.0837)		STAD - Stomach adenocarcinoma(171;0.000302)			CTGTAGAAGCTTCCACCTGTT	0.338																																						ENST00000544910.1																			0				endometrium(1)|large_intestine(2)|lung(5)	8						c.(139-141)cTt>cGt		coiled-coil domain containing 132							35	37	37					7																	92883177		2202	4299	6501	SO:0001583	missense	55610							g.chr7:92883177T>G	AL833112, AK055965, AL832393	CCDS5630.1, CCDS43617.1, CCDS59065.1	7q21.3	2007-07-23			ENSG00000004766	ENSG00000004766			25956	protein-coding gene	gene with protein product						11347906	Standard	NM_024553		Approved	KIAA1861, FLJ20097, DKFZp313I2429	uc003umo.4	Q96JG6	OTTHUMG00000131733	ENST00000305866.5:c.230T>G	7.37:g.92883177T>G	ENSP00000307666:p.Leu77Arg					CCDC132_ENST00000305866.5_Missense_Mutation_p.L77R|CCDC132_ENST00000535481.1_Intron|CCDC132_ENST00000317751.6_5'UTR|CCDC132_ENST00000541136.1_5'UTR|CCDC132_ENST00000251739.5_Missense_Mutation_p.L77R	p.L47R	NM_001257998.1	NP_001244927.1	Q96JG6	CC132_HUMAN	STAD - Stomach adenocarcinoma(171;0.000302)		5	360	+	all_cancers(62;2.64e-11)|all_epithelial(64;1.4e-10)|Breast(17;0.000675)|Lung NSC(181;0.0618)|all_lung(186;0.0837)		77					B3KX22|D1MQ00|F5H5U7|Q75N07|Q8WVK3|Q9H5C6	Missense_Mutation	SNP	ENST00000305866.5	37	c.140T>G	CCDS43617.1	.	.	.	.	.	.	.	.	.	.	T	21.6	4.174231	0.78452	.	.	ENSG00000004766	ENST00000251739;ENST00000305866;ENST00000544910;ENST00000458530	.	.	.	4.46	4.46	0.54185	Vacuolar protein sorting-associated protein 54 (1);	0.000000	0.85682	D	0.000000	T	0.75882	0.3910	M	0.61703	1.905	0.80722	D	1	D;D;D	0.89917	0.998;0.999;1.0	D;D;D	0.87578	0.974;0.998;0.994	T	0.79127	-0.1931	9	0.87932	D	0	-9.4098	14.2161	0.65795	0.0:0.0:0.0:1.0	.	47;77;77	F5H5U7;Q96JG6;Q96JG6-2	.;CC132_HUMAN;.	R	77;77;47;76	.	ENSP00000251739:L77R	L	+	2	0	CCDC132	92721113	1.000000	0.71417	0.998000	0.56505	0.985000	0.73830	6.952000	0.75989	2.014000	0.59158	0.528000	0.53228	CTT		0.338	CCDC132-019	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341687.1	NM_017667		10	12	0	0	0	0.435327	0	10	12					G	92883177	T	G	92883177	3	3	224	1	0	0	0	0	1	0	0	0	2767	1609	56	5	244	5	CCDC132	7	92883177	Missense_Mutation	SNP	T	TCGA-HC-7819-01A-11D-2114-08	9242788	92883177	66255486	16	10331											
SGK3	23678	broad.mit.edu	37	chr8	67705990	67705990	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaatgcaaagagatcacaccAtggactacaaggaaagctgc	18	5	9	9	0	1	1	1	0	0	1	1	4	1	3	1	2	4	2	1	2	5	1			TCGA-HC-7819-01A-11D-2114-08	TCGA-HC-7819-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	997549f6-8dde-4b4a-b477-609a535b301f	7f5954b3-ce60-414b-bd40-f46175ba19c4	g.chr8:67705990A>G	ENST00000396596.1	+	2	233	c.19A>G	c.(19-21)Atg>Gtg	p.M7V	SGK3_ENST00000345714.4_Missense_Mutation_p.M7V|C8orf44-SGK3_ENST00000519289.1_Missense_Mutation_p.M7V|SGK3_ENST00000520976.1_Missense_Mutation_p.M7V|SGK3_ENST00000522398.1_Missense_Mutation_p.M7V|SGK3_ENST00000521198.2_Missense_Mutation_p.M7V|C8orf44-SGK3_ENST00000520044.1_3'UTR	NM_013257.4	NP_037389.4	Q96BR1	SGK3_HUMAN	serum/glucocorticoid regulated kinase family, member 3	7					ion transmembrane transport (GO:0034220)|protein phosphorylation (GO:0006468)|regulation of cell growth (GO:0001558)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|response to stress (GO:0006950)|transmembrane transport (GO:0055085)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endosome (GO:0005768)	ATP binding (GO:0005524)|calcium channel regulator activity (GO:0005246)|chloride channel regulator activity (GO:0017081)|phosphatidylinositol binding (GO:0035091)|potassium channel regulator activity (GO:0015459)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|sodium channel regulator activity (GO:0017080)			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	18	Breast(64;0.186)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0046)|OV - Ovarian serous cystadenocarcinoma(28;0.0112)|all cancers(69;0.0141)|BRCA - Breast invasive adenocarcinoma(89;0.206)			AGATCACACCATGGACTACAA	0.403																																						ENST00000396596.1																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	18						c.(19-21)Atg>Gtg		serum/glucocorticoid regulated kinase family, member 3							81	73	76					8																	67705990		2203	4300	6503	SO:0001583	missense	23678				cell communication|response to stress	cytoplasmic membrane-bounded vesicle|early endosome	ATP binding|phosphatidylinositol binding|protein serine/threonine kinase activity	g.chr8:67705990A>G		CCDS6195.1, CCDS6196.1	8q12	2008-07-28	2005-09-13	2005-09-13		ENSG00000104205			10812	protein-coding gene	gene with protein product		607591	"serum/glucocorticoid regulated kinase-like"	SGK2, SGKL		10585774, 10548550	Standard	NM_013257		Approved		uc003xwr.3	Q96BR1		ENST00000396596.1:c.19A>G	8.37:g.67705990A>G	ENSP00000379842:p.Met7Val					SGK3_ENST00000521198.2_Missense_Mutation_p.M7V|SGK3_ENST00000345714.4_Missense_Mutation_p.M7V|C8orf44-SGK3_ENST00000520044.1_3'UTR|SGK3_ENST00000520976.1_Missense_Mutation_p.M7V|SGK3_ENST00000522398.1_Missense_Mutation_p.M7V|C8orf44-SGK3_ENST00000519289.1_Missense_Mutation_p.M7V	p.M7V	NM_013257.4	NP_037389.4	Q96BR1	SGK3_HUMAN	Epithelial(68;0.0046)|OV - Ovarian serous cystadenocarcinoma(28;0.0112)|all cancers(69;0.0141)|BRCA - Breast invasive adenocarcinoma(89;0.206)		2	233	+	Breast(64;0.186)	Lung NSC(129;0.0908)|all_lung(136;0.152)	7					A8K5W3|B3KQC2|Q9P1Q7|Q9UKG5	Missense_Mutation	SNP	ENST00000396596.1	37	c.19A>G	CCDS6195.1	.	.	.	.	.	.	.	.	.	.	A	24.8	4.573855	0.86542	.	.	ENSG00000104205	ENST00000519289;ENST00000521198;ENST00000262211;ENST00000522398;ENST00000522629;ENST00000520976;ENST00000396596;ENST00000518388;ENST00000345714	T;T;T;T;T;T	0.69435	-0.4;-0.4;-0.4;0.27;-0.4;-0.4	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	T	0.71230	0.3315	N	0.24115	0.695	0.39262	D	0.964230	P;P	0.43578	0.811;0.779	P;B	0.60789	0.879;0.262	T	0.76647	-0.2882	9	0.66056	D	0.02	.	15.6094	0.76704	1.0:0.0:0.0:0.0	.	7;7	Q96BR1-2;Q96BR1	.;SGK3_HUMAN	V	7	ENSP00000429022:M7V;ENSP00000430463:M7V;ENSP00000430256:M7V;ENSP00000430691:M7V;ENSP00000379842:M7V;ENSP00000331816:M7V	ENSP00000262211:M7V	M	+	1	0	SGK3	67868544	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.493000	0.81493	2.326000	0.78906	0.528000	0.53228	ATG		0.403	SGK3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379232.3			16	27	0	0	0	0.608945	0	16	27					G	67705990	A	G	67705990	3	3	224	1	0	0	0	0	1	0	0	0	14212	217	8	4	21	4	SGK3	8	67705990	Missense_Mutation	SNP	A	TCGA-HC-7819-01A-11D-2114-08		67705990	78658032	17	10332											
SIRT1	23411	broad.mit.edu	37	chr10	69676124	69676124	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atcctctagttcttgtggcaGtaacagtgatagtgggacat	10	13	11	7	0	2	1	0	1	2	0	3	2	3	2	1	2	1	3	1	2	3	5			TCGA-HC-7819-01A-11D-2114-08	TCGA-HC-7819-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	997549f6-8dde-4b4a-b477-609a535b301f	7f5954b3-ce60-414b-bd40-f46175ba19c4	g.chr10:69676124G>A	ENST00000212015.6	+	9	2071	c.2018G>A	c.(2017-2019)aGt>aAt	p.S673N	SIRT1_ENST00000403579.1_Missense_Mutation_p.S370N|SIRT1_ENST00000406900.1_Missense_Mutation_p.S370N|SIRT1_ENST00000432464.1_Missense_Mutation_p.S378N	NM_012238.4	NP_036370.2	Q96EB6	SIR1_HUMAN	sirtuin 1	673					angiogenesis (GO:0001525)|cell aging (GO:0007569)|cellular glucose homeostasis (GO:0001678)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to starvation (GO:0009267)|cellular response to tumor necrosis factor (GO:0071356)|cellular triglyceride homeostasis (GO:0035356)|cholesterol homeostasis (GO:0042632)|chromatin organization (GO:0006325)|chromatin silencing (GO:0006342)|chromatin silencing at rDNA (GO:0000183)|circadian regulation of gene expression (GO:0032922)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA synthesis involved in DNA repair (GO:0000731)|establishment of chromatin silencing (GO:0006343)|fatty acid homeostasis (GO:0055089)|histone deacetylation (GO:0016575)|histone H3 deacetylation (GO:0070932)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|maintenance of chromatin silencing (GO:0006344)|methylation-dependent chromatin silencing (GO:0006346)|muscle organ development (GO:0007517)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cAMP-dependent protein kinase activity (GO:2000480)|negative regulation of cell growth (GO:0030308)|negative regulation of cellular response to testosterone stimulus (GO:2000655)|negative regulation of cellular senescence (GO:2000773)|negative regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043518)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of helicase activity (GO:0051097)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:1902166)|negative regulation of neuron death (GO:1901215)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|negative regulation of peptidyl-lysine acetylation (GO:2000757)|negative regulation of phosphorylation (GO:0042326)|negative regulation of prostaglandin biosynthetic process (GO:0031393)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of TOR signaling (GO:0032007)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|ovulation from ovarian follicle (GO:0001542)|peptidyl-lysine acetylation (GO:0018394)|peptidyl-lysine deacetylation (GO:0034983)|positive regulation of adaptive immune response (GO:0002821)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cAMP-dependent protein kinase activity (GO:2000481)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cellular senescence (GO:2000774)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of chromatin silencing (GO:0031937)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of DNA repair (GO:0045739)|positive regulation of histone H3-K9 methylation (GO:0051574)|positive regulation of insulin receptor signaling pathway (GO:0046628)|positive regulation of macroautophagy (GO:0016239)|positive regulation of macrophage apoptotic process (GO:2000111)|positive regulation of MHC class II biosynthetic process (GO:0045348)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein deacetylation (GO:0006476)|protein destabilization (GO:0031648)|protein ubiquitination (GO:0016567)|pyrimidine dimer repair by nucleotide-excision repair (GO:0000720)|regulation of bile acid biosynthetic process (GO:0070857)|regulation of cell proliferation (GO:0042127)|regulation of endodeoxyribonuclease activity (GO:0032071)|regulation of glucose metabolic process (GO:0010906)|regulation of mitotic cell cycle (GO:0007346)|regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035358)|regulation of protein import into nucleus, translocation (GO:0033158)|regulation of smooth muscle cell apoptotic process (GO:0034391)|response to hydrogen peroxide (GO:0042542)|response to insulin (GO:0032868)|response to oxidative stress (GO:0006979)|rRNA processing (GO:0006364)|single strand break repair (GO:0000012)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)|triglyceride mobilization (GO:0006642)|viral process (GO:0016032)|white fat cell differentiation (GO:0050872)	chromatin silencing complex (GO:0005677)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear envelope (GO:0005635)|nuclear euchromatin (GO:0005719)|nuclear heterochromatin (GO:0005720)|nuclear inner membrane (GO:0005637)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|rDNA heterochromatin (GO:0033553)	bHLH transcription factor binding (GO:0043425)|deacetylase activity (GO:0019213)|enzyme binding (GO:0019899)|histone binding (GO:0042393)|histone deacetylase activity (GO:0004407)|HLH domain binding (GO:0043398)|identical protein binding (GO:0042802)|keratin filament binding (GO:1990254)|metal ion binding (GO:0046872)|mitogen-activated protein kinase binding (GO:0051019)|NAD+ binding (GO:0070403)|NAD-dependent histone deacetylase activity (GO:0017136)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent protein deacetylase activity (GO:0034979)|p53 binding (GO:0002039)|protein C-terminus binding (GO:0008022)|protein deacetylase activity (GO:0033558)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(3)|skin(1)	14						TCTTGTGGCAGTAACAGTGAT	0.413																																						ENST00000212015.6																			0				central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(3)|skin(1)	14						c.(2017-2019)aGt>aAt		sirtuin 1							126	115	119					10																	69676124		2203	4300	6503	SO:0001583	missense	23411				apoptosis|cell aging|cellular response to hydrogen peroxide|cellular response to starvation|chromatin silencing at rDNA|DNA repair|DNA replication|establishment of chromatin silencing|histone H3 deacetylation|interspecies interaction between organisms|maintenance of chromatin silencing|muscle organ development|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of fat cell differentiation|negative regulation of helicase activity|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|peptidyl-lysine acetylation|peptidyl-lysine deacetylation|positive regulation of anti-apoptosis|positive regulation of chromatin silencing|positive regulation of DNA repair|regulation of apoptosis|regulation of cell proliferation|regulation of endodeoxyribonuclease activity|regulation of protein import into nucleus, translocation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|rRNA processing|transcription, DNA-dependent|triglyceride mobilization|white fat cell differentiation	chromatin silencing complex|cytoplasm|nuclear euchromatin|nuclear heterochromatin|nuclear inner membrane|nucleolus|PML body|rDNA heterochromatin	bHLH transcription factor binding|histone binding|HLH domain binding|identical protein binding|mitogen-activated protein kinase binding|NAD+ binding|NAD-dependent histone deacetylase activity (H3-K9 specific)|p53 binding|protein C-terminus binding|transcription corepressor activity|zinc ion binding	g.chr10:69676124G>A	AF083106	CCDS7273.1, CCDS44412.1	10q21	2010-06-25	2010-06-25		ENSG00000096717	ENSG00000096717			14929	protein-coding gene	gene with protein product		604479	"sirtuin (silent mating type information regulation 2, S. cerevisiae, homolog) 1", "sirtuin (silent mating type information regulation 2 homolog) 1 (S. cerevisiae)"			10381378	Standard	NM_012238		Approved	SIR2L1	uc001jnd.3	Q96EB6	OTTHUMG00000018340	ENST00000212015.6:c.2018G>A	10.37:g.69676124G>A	ENSP00000212015:p.Ser673Asn					SIRT1_ENST00000432464.1_Missense_Mutation_p.S378N|SIRT1_ENST00000406900.1_Missense_Mutation_p.S370N|SIRT1_ENST00000403579.1_Missense_Mutation_p.S370N	p.S673N	NM_012238.4	NP_036370.2	Q96EB6	SIRT1_HUMAN			9	2071	+			673					Q2XNF6|Q5JVQ0|Q9GZR9|Q9Y6F0	Missense_Mutation	SNP	ENST00000212015.6	37	c.2018G>A	CCDS7273.1	.	.	.	.	.	.	.	.	.	.	G	29.4	5.003478	0.93287	.	.	ENSG00000096717	ENST00000212015;ENST00000432464;ENST00000406900;ENST00000403579	T;T;T;T	0.46063	0.88;0.88;0.88;0.88	5.98	5.98	0.97165	.	0.048663	0.85682	D	0.000000	T	0.55625	0.1932	L	0.61218	1.895	0.58432	D	0.999999	D;D	0.60575	0.976;0.988	P;P	0.54815	0.631;0.761	T	0.56878	-0.7906	10	0.72032	D	0.01	-16.2493	15.544	0.76081	0.0:0.1375:0.8625:0.0	.	370;673	B0QZ35;Q96EB6	.;SIRT1_HUMAN	N	673;378;370;370	ENSP00000212015:S673N;ENSP00000409208:S378N;ENSP00000384508:S370N;ENSP00000384063:S370N	ENSP00000212015:S673N	S	+	2	0	SIRT1	69346130	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.065000	0.76727	2.835000	0.97688	0.650000	0.86243	AGT		0.413	SIRT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048296.1			3	87	0	0	0	0.115264	0	3	87					A	69676124	G	A	69676124	3	1	224	1	0	0	0	0	1	0	0	0	14337	1029	36	3	2052	3	SIRT1	10	69676124	Missense_Mutation	SNP	G	TCGA-HC-7819-01A-11D-2114-08		69676124	65858623	18	10333											
SNCG	6623	broad.mit.edu	37	chr10	88718535	88718535	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aagaccaagcagggggtgacGgaagcagctgagaagaccaa	16	2	15	8	1	0	4	0	2	0	3	0	6	0	5	2	3	3	3	2	3	5	0			TCGA-HC-7819-01A-11D-2114-08	TCGA-HC-7819-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	997549f6-8dde-4b4a-b477-609a535b301f	7f5954b3-ce60-414b-bd40-f46175ba19c4	g.chr10:88718535G>A	ENST00000372017.3	+	1	123	c.81G>A	c.(79-81)acG>acA	p.T27T	SNCG_ENST00000348795.4_Silent_p.T27T|MMRN2_ENST00000372027.5_5'Flank	NM_003087.2	NP_003078.2	O76070	SYUG_HUMAN	synuclein, gamma (breast cancer-specific protein 1)	27	4 X 11 AA tandem repeats of [EGSA]-K-T-K- [EQ]-[GQ]-V-X(4).				adult locomotory behavior (GO:0008344)|aggressive behavior (GO:0002118)|cellular response to hydrostatic pressure (GO:0071464)|protein secretion (GO:0009306)|regulation of dopamine secretion (GO:0014059)|regulation of neurotransmitter secretion (GO:0046928)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|synapse organization (GO:0050808)|synaptic transmission (GO:0007268)	axon terminus (GO:0043679)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)				endometrium(1)|skin(1)	2						AGGGGGTGACGGAAGCAGCTG	0.597																																						ENST00000372017.3																			0				endometrium(1)|skin(1)	2						c.(79-81)acG>acA		synuclein, gamma (breast cancer-specific protein 1)							117	108	111					10																	88718535		2203	4300	6503	SO:0001819	synonymous_variant	6623					microtubule organizing center|perinuclear region of cytoplasm|spindle	protein binding	g.chr10:88718535G>A	AF044311	CCDS7380.1	10q23.2-q23.3	2006-06-28			ENSG00000173267	ENSG00000173267			11141	protein-coding gene	gene with protein product	"synoretin"	602998				9044857, 9700196	Standard	NM_003087		Approved	BCSG1, SR, persyn	uc001keb.2	O76070	OTTHUMG00000018656	ENST00000372017.3:c.81G>A	10.37:g.88718535G>A						SNCG_ENST00000348795.4_Silent_p.T27T	p.T27T	NM_003087.2	NP_003078.2	O76070	SYUG_HUMAN			1	123	+			27			4 X 11 AA tandem repeats of [EGSA]-K-T-K- [EQ]-[GQ]-V-X(4).		O15104|Q96P61	Silent	SNP	ENST00000372017.3	37	c.81G>A	CCDS7380.1																																																																																				0.597	SNCG-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049167.1			3	69	0	0	0	0.217242	0	3	69					A	88718535	G	A	88718535	2	1	224	1	0	0	0	0	0	0	0	1	14843	1103	39	2		2	SNCG	10	88718535	Silent	SNP	G	TCGA-HC-7819-01A-11D-2114-08	19042411	88718535	46816212	19	10334											
ARMS2	387715	broad.mit.edu	37	chr10	124214267	124214267	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcgcctatacccaggaccGatggtaactgaggcggaggg	9	6	15	11	3	0	1	0	1	0	0	0	4	0	3	3	5	3	1	3	5	3	3	rs201895396		TCGA-HC-7819-01A-11D-2114-08	TCGA-HC-7819-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	997549f6-8dde-4b4a-b477-609a535b301f	7f5954b3-ce60-414b-bd40-f46175ba19c4	g.chr10:124214267G>T	ENST00000528446.1	+	1	99	c.24G>T	c.(22-24)ccG>ccT	p.P8P		NM_001099667.1	NP_001093137.1	P0C7Q2	ARMS2_HUMAN	age-related maculopathy susceptibility 2	8					retina homeostasis (GO:0001895)	mitochondrion (GO:0005739)|photoreceptor inner segment (GO:0001917)				ovary(1)	1		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				ACCCAGGACCGATGGTAACTG	0.572																																						ENST00000528446.1																			0				ovary(1)	1						c.(22-24)ccG>ccT		age-related maculopathy susceptibility 2							99	104	102					10																	124214267		2048	4194	6242	SO:0001819	synonymous_variant	387715				retina homeostasis	mitochondrion|photoreceptor inner segment		g.chr10:124214267G>T	BC066349	CCDS53585.1	10q26.13	2013-01-23			ENSG00000254636	ENSG00000254636			32685	protein-coding gene	gene with protein product		611313				16080115, 16174643	Standard	NM_001099667		Approved	LOC387715, ARMD8	uc001lgi.3	P0C7Q2	OTTHUMG00000048232	ENST00000528446.1:c.24G>T	10.37:g.124214267G>T							p.P8P	NM_001099667.1	NP_001093137.1	P0C7Q2	ARMS2_HUMAN			1	99	+		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)	8					B2Y7I5	Silent	SNP	ENST00000528446.1	37	c.24G>T	CCDS53585.1																																																																																				0.572	ARMS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109727.2			3	109	1	0	0.115264	0.115264	0.120169	3	109					T	124214267	G	T	124214267	2	4	224	1	0	0	0	0	0	0	0	1	964	1045	37	5		5	ARMS2	10	124214267	Silent	SNP	G	TCGA-HC-7819-01A-11D-2114-08	35495732	124214267	11320480	20	10335											
ATG16L2	89849	broad.mit.edu	37	chr11	72528863	72528865	+	In_Frame_Del	DEL	AGG	AGG	-																															cgcactgagggtgaagtggcAggaggaggaggaggggctcc																										TCGA-HC-7819-01A-11D-2114-08	TCGA-HC-7819-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	997549f6-8dde-4b4a-b477-609a535b301f	7f5954b3-ce60-414b-bd40-f46175ba19c4	g.chr11:72528863_72528865delAGG	ENST00000321297.5	+	3	419_421	c.281_283delAGG	c.(280-285)caggag>cag	p.E98del	ATG16L2_ENST00000534905.1_In_Frame_Del_p.E98del	NM_033388.1	NP_203746.1	Q8NAA4	A16L2_HUMAN	autophagy related 16-like 2 (S. cerevisiae)	98					autophagy (GO:0006914)|negative stranded viral RNA replication (GO:0039689)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(1)|cervix(1)|endometrium(2)|large_intestine(1)|lung(9)	14			BRCA - Breast invasive adenocarcinoma(5;2.73e-06)			GTGAAGTGGCAGGAGGAGGAGGA	0.591																																						ENST00000321297.5																			0				breast(1)|cervix(1)|endometrium(2)|large_intestine(1)|lung(9)	14						c.(280-285)cag>c		autophagy related 16-like 2 (S. cerevisiae)																																				SO:0001651	inframe_deletion	89849				autophagy|protein transport	cytoplasm	protein binding	g.chr11:72528863_72528865delAGG	AK024423	CCDS31634.1	11q13.4	2014-02-12	2012-06-06		ENSG00000168010	ENSG00000168010		"WD repeat domain containing"	25464	protein-coding gene	gene with protein product			"ATG16 autophagy related 16-like 2 (S. cerevisiae)"			11214971	Standard	XM_005274378		Approved	FLJ00012, WDR80, ATG16B	uc001otd.3	Q8NAA4	OTTHUMG00000167961	ENST00000321297.5:c.281_283delAGG	11.37:g.72528872_72528874delAGG	ENSP00000326340:p.Glu98del					ATG16L2_ENST00000534905.1_In_Frame_Del_p.QE94del	p.QE94del	NM_033388.1	NP_203746.1	Q8NAA4	A16L2_HUMAN	BRCA - Breast invasive adenocarcinoma(5;2.73e-06)		3	419_421	+			94					A5PL30|B2RPK5|Q658V4|Q6PID3|Q8NBG0	In_Frame_Del	DEL	ENST00000321297.5	37	c.281_283delAGG	CCDS31634.1																																																																																				0.591	ATG16L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397305.1	NM_033388		7	89						7	89	---	---	---	---	-	72528865	AGG	-	72528863	7	5	224	1	0	1	0	1	0	0	0	0	1092	188	7	0	291	0	ATG16L2	11	72528863	In_Frame_Del	DEL	AGG	TCGA-HC-7819-01A-11D-2114-08		72528863	62477653	21	10336											
ANGPTL5	253935	broad.mit.edu	37	chr11	101775573	101775573	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgaacaggtctgtgaggaaaAggatccagctgttttctaaa	13	11	11	6	0	2	2	0	2	2	0	3	4	3	4	1	3	2	2	1	3	5	3			TCGA-HC-7819-01A-11D-2114-08	TCGA-HC-7819-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	997549f6-8dde-4b4a-b477-609a535b301f	7f5954b3-ce60-414b-bd40-f46175ba19c4	g.chr11:101775573A>G	ENST00000334289.3	-	5	1006	c.411T>C	c.(409-411)ccT>ccC	p.P137P		NM_178127.4	NP_835228.2	Q86XS5	ANGL5_HUMAN	angiopoietin-like 5	137						extracellular region (GO:0005576)				breast(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|ovary(2)|skin(3)	29		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.043)		BRCA - Breast invasive adenocarcinoma(274;0.0328)		TGTGAGGAAAAGGATCCAGCT	0.358																																						ENST00000334289.3																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|ovary(2)|skin(3)	29						c.(409-411)ccT>ccC		angiopoietin-like 5							97	101	99					11																	101775573		2203	4299	6502	SO:0001819	synonymous_variant	253935				signal transduction	extracellular space	receptor binding	g.chr11:101775573A>G	BC049170	CCDS8312.1	11q22.2	2013-02-06				ENSG00000187151		"Fibrinogen C domain containing"	19705	protein-coding gene	gene with protein product		607666				12624729	Standard	NM_178127		Approved		uc001pgl.3	Q86XS5		ENST00000334289.3:c.411T>C	11.37:g.101775573A>G							p.P137P	NM_178127.4	NP_835228.2	Q86XS5	ANGL5_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.0328)	5	1006	-		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.043)	137					A8K658|Q86VR9	Silent	SNP	ENST00000334289.3	37	c.411T>C	CCDS8312.1																																																																																				0.358	ANGPTL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394138.1	NM_178127		3	72	0	0	0	0.184627	0	3	72					G	101775573	A	G	101775573	2	3	224	1	0	0	0	0	0	0	0	1	617	59	3	4		4	ANGPTL5	11	101775573	Silent	SNP	A	TCGA-HC-7819-01A-11D-2114-08	29246710	101775573	33230943	22	10337											
PRB2	653247	broad.mit.edu	37	chr12	11546788	11546790	+	In_Frame_Del	DEL	GGA	GGA	-																															gtggtccttgtggctttcctGgaggaggtgggggaccttga																										TCGA-HC-7819-01A-11D-2114-08	TCGA-HC-7819-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	997549f6-8dde-4b4a-b477-609a535b301f	7f5954b3-ce60-414b-bd40-f46175ba19c4	g.chr12:11546788_11546790delGGA	ENST00000389362.4	-	3	257_259	c.222_224delTCC	c.(220-225)cctcca>cca	p.74_75PP>P	PRB1_ENST00000546254.1_Intron|PRB2_ENST00000545829.1_5'Flank	NM_006248.3	NP_006239.3	P02812	PRB2_HUMAN	proline-rich protein BstNI subfamily 2	74	15 X 20 AA approximate tandem repeats of P-P-G-K-P-Q-G-P-P-P-Q-G-[GD]-[NKS]-[KSQ]- [PRS]-[QRS] [GPS]-[PSAR]-[PSR].					extracellular region (GO:0005576)				NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(5)|skin(4)|stomach(2)|urinary_tract(1)	37		all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09)	OV - Ovarian serous cystadenocarcinoma(49;0.185)			TGGCTTTCCTGGAGGAGGTGGGG	0.601																																						ENST00000389362.4																			0				NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(5)|skin(4)|stomach(2)|urinary_tract(1)	37						c.(220-225)cca>cc		proline-rich protein BstNI subfamily 2																																				SO:0001651	inframe_deletion	653247							g.chr12:11546788_11546790delGGA	K03208	CCDS41757.2	12p13.2	2012-10-02			ENSG00000121335	ENSG00000121335			9338	protein-coding gene	gene with protein product		168810				8554050	Standard	NM_006248		Approved	PRPPRB1, Ps, cP7	uc010shk.1	P02812	OTTHUMG00000156975	ENST00000389362.4:c.222_224delTCC	12.37:g.11546791_11546793delGGA	ENSP00000374013:p.Pro75del					PRB1_ENST00000546254.1_Intron	p.PP74del	NM_006248.3	NP_006239.3			OV - Ovarian serous cystadenocarcinoma(49;0.185)		3	257_259	-		all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09)						O00599|P02811|P04281	In_Frame_Del	DEL	ENST00000389362.4	37	c.222_224delTCC	CCDS41757.2																																																																																				0.601	PRB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346925.2	NM_006248		7	308						7	308	---	---	---	---	-	11546790	GGA	-	11546788	7	5	224	1	0	1	0	1	0	0	0	0	12443	1348	47	0	1030	0	PRB2	12	11546788	In_Frame_Del	DEL	GGA	TCGA-HC-7819-01A-11D-2114-08		11546788	122305107	23	10338											
SLC15A1	6564	broad.mit.edu	37	chr13	99354751	99354751	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tacctgattccattttccccTttttctggcttctggttaag	5	19	6	11	0	2	1	0	1	2	0	4	1	4	1	4	2	1	2	4	2	2	8	rs550700409	byFrequency	TCGA-HC-7819-01A-11D-2114-08	TCGA-HC-7819-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	997549f6-8dde-4b4a-b477-609a535b301f	7f5954b3-ce60-414b-bd40-f46175ba19c4	g.chr13:99354751T>C	ENST00000376503.5	-	18	1504	c.1449A>G	c.(1447-1449)aaA>aaG	p.K483K		NM_005073.3	NP_005064.1	P46059	S15A1_HUMAN	solute carrier family 15 (oligopeptide transporter), member 1	483					digestion (GO:0007586)|ion transport (GO:0006811)|protein transport (GO:0015031)|proton transport (GO:0015992)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	peptide:proton symporter activity (GO:0015333)|proton-dependent oligopeptide secondary active transmembrane transporter activity (GO:0005427)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	30	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)				Aminolevulinic acid(DB00855)|Amoxicillin(DB01060)|Ampicillin(DB00415)|Azidocillin(DB08795)|Benazepril(DB00542)|Benzylpenicillin(DB01053)|Captopril(DB01197)|Cefaclor(DB00833)|Cefadroxil(DB01140)|Cefalotin(DB00456)|Cefdinir(DB00535)|Cefepime(DB01413)|Cefixime(DB00671)|Cefmetazole(DB00274)|Cefotaxime(DB00493)|Cefradine(DB01333)|Ceftazidime(DB00438)|Ceftibuten(DB01415)|Ceftizoxime(DB01332)|Ceftriaxone(DB01212)|Cefuroxime(DB01112)|Cephalexin(DB00567)|Chlorpropamide(DB00672)|Cilazapril(DB01340)|Cloxacillin(DB01147)|Cyclacillin(DB01000)|Dicloxacillin(DB00485)|Enalapril(DB00584)|Fluvastatin(DB01095)|Fosinopril(DB00492)|Glyburide(DB01016)|L-DOPA(DB01235)|Lisinopril(DB00722)|Methyldopa(DB00968)|Midodrine(DB00211)|Moexipril(DB00691)|Nateglinide(DB00731)|Oseltamivir(DB00198)|Oxacillin(DB00713)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Spirapril(DB01348)|Tolbutamide(DB01124)|Trandolapril(DB00519)|Valaciclovir(DB00577)|Valganciclovir(DB01610)	CATTTTCCCCTTTTTCTGGCT	0.284													T|||	6	0.00119808	0	0	5008	,	,		18498	0		0	False		,,,				2504	0.0061					ENST00000376503.5																			0				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						c.(1447-1449)aaA>aaG		solute carrier family 15 (oligopeptide transporter), member 1	Cefadroxil(DB01140)|Ceftibuten(DB01415)|Cyclacillin(DB01000)						61	68	65					13																	99354751		2201	4296	6497	SO:0001819	synonymous_variant	6564				digestion|protein transport	integral to plasma membrane|membrane fraction	peptide:hydrogen symporter activity	g.chr13:99354751T>C	U13173	CCDS9489.1	13q32.3	2013-05-22			ENSG00000088386	ENSG00000088386		"Solute carriers"	10920	protein-coding gene	gene with protein product	"peptide transporter HPEPT1", "bA551M18.1.1 (solute carrier family 15 (oligopeptide transporter) member 1)", "solute carrier family 15 oligopeptide transporter member 1"	600544				7896779	Standard	NM_005073		Approved	PEPT1, HPECT1, HPEPT1	uc001vno.3	P46059	OTTHUMG00000017255	ENST00000376503.5:c.1449A>G	13.37:g.99354751T>C							p.K483K	NM_005073.3	NP_005064.1	P46059	S15A1_HUMAN			18	1504	-	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		483					Q5VW82	Silent	SNP	ENST00000376503.5	37	c.1449A>G	CCDS9489.1																																																																																				0.284	SLC15A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045560.3	NM_005073		3	152	0	0	0	0.184627	0	3	152					C	99354751	T	C	99354751	2	2	224	1	0	0	0	0	0	0	0	1	14398	1606	56	4		4	SLC15A1	13	99354751	Silent	SNP	T	TCGA-HC-7819-01A-11D-2114-08		99354751	15815127	24	10339											
LRFN5	145581	broad.mit.edu	37	chr14	42356070	42356070	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaccagcttggtggacctgaCtctatccaggaatacaataa	13	9	9	10	0	1	1	0	1	1	0	2	4	2	3	3	3	2	1	3	3	5	4			TCGA-HC-7819-01A-11D-2114-08	TCGA-HC-7819-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	997549f6-8dde-4b4a-b477-609a535b301f	7f5954b3-ce60-414b-bd40-f46175ba19c4	g.chr14:42356070C>A	ENST00000298119.4	+	3	1431	c.242C>A	c.(241-243)aCt>aAt	p.T81N	LRFN5_ENST00000554171.1_Missense_Mutation_p.T81N|LRFN5_ENST00000554120.1_Missense_Mutation_p.T81N	NM_152447.3	NP_689660.2	Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III domain containing 5	81						integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		GTGGACCTGACTCTATCCAGG	0.373										HNSCC(30;0.082)																												ENST00000554171.1																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120						c.(241-243)aCt>aAt		leucine rich repeat and fibronectin type III domain containing 5							54	53	54					14																	42356070		2203	4300	6503	SO:0001583	missense	145581					integral to membrane		g.chr14:42356070C>A	AK055365	CCDS9678.1	14q21.1	2013-02-11	2004-02-02	2004-02-04	ENSG00000165379	ENSG00000165379		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	20360	protein-coding gene	gene with protein product	"fibronectin type III, immunoglobulin and leucine rich repeat domains 8"	612811	"chromosome 14 open reading frame 146"	C14orf146		16828986	Standard	NM_152447		Approved	FIGLER8, SALM5	uc001wvm.3	Q96NI6	OTTHUMG00000140261	ENST00000298119.4:c.242C>A	14.37:g.42356070C>A	ENSP00000298119:p.Thr81Asn	HNSCC(30;0.082)				LRFN5_ENST00000554120.1_Missense_Mutation_p.T81N|LRFN5_ENST00000298119.4_Missense_Mutation_p.T81N	p.T81N			Q96NI6	LRFN5_HUMAN	LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)	5	2674	+			81					B3KU78|Q86XL2	Missense_Mutation	SNP	ENST00000298119.4	37	c.242C>A	CCDS9678.1	.	.	.	.	.	.	.	.	.	.	C	17.77	3.471068	0.63625	.	.	ENSG00000165379	ENST00000298119;ENST00000554120;ENST00000554171	T;T;T	0.49432	0.78;0.78;0.78	5.56	5.56	0.83823	.	0.000000	0.64402	D	0.000018	T	0.39064	0.1064	N	0.00894	-1.105	0.80722	D	1	D;D	0.76494	0.998;0.999	D;D	0.81914	0.988;0.995	T	0.56908	-0.7901	10	0.20046	T	0.44	.	17.0193	0.86429	0.0:1.0:0.0:0.0	.	81;81	G3V364;Q96NI6	.;LRFN5_HUMAN	N	81	ENSP00000298119:T81N;ENSP00000451897:T81N;ENSP00000451067:T81N	ENSP00000298119:T81N	T	+	2	0	LRFN5	41425820	1.000000	0.71417	0.998000	0.56505	0.935000	0.57460	7.818000	0.86416	2.595000	0.87683	0.650000	0.86243	ACT		0.373	LRFN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276786.1	NM_152447		27	36	1	0	5.45727e-16	0.729181	6.36681e-16	27	36					A	42356070	C	A	42356070	3	1	224	1	0	0	0	0	1	0	0	0	8941	565	20	5	244	5	LRFN5	14	42356070	Missense_Mutation	SNP	C	TCGA-HC-7819-01A-11D-2114-08		42356070	64993470	25	10340											
SERPINA6	866	broad.mit.edu	37	chr14	94780979	94780979	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagacaggtgtacaggaggaGtggcattgtccagtatagcc	12	8	14	7	0	0	1	0	0	0	1	1	3	1	3	2	4	2	3	2	4	4	4			TCGA-HC-7819-01A-11D-2114-08	TCGA-HC-7819-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	997549f6-8dde-4b4a-b477-609a535b301f	7f5954b3-ce60-414b-bd40-f46175ba19c4	g.chr14:94780979G>A	ENST00000341584.3	-	2	153	c.7C>T	c.(7-9)Ctc>Ttc	p.L3F		NM_001756.3	NP_001747	P08185	CBG_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 6	3					glucocorticoid metabolic process (GO:0008211)|negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)|transport (GO:0006810)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase inhibitor activity (GO:0004867)|steroid binding (GO:0005496)			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(11)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	26		all_cancers(154;0.0482)|all_epithelial(191;0.166)		COAD - Colon adenocarcinoma(157;0.211)	Alclometasone(DB00240)|Beclomethasone(DB00394)|Ciclesonide(DB01410)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Halobetasol Propionate(DB00596)|Medrysone(DB00253)|Mitotane(DB00648)|Paramethasone(DB01384)|Prednisolone(DB00860)|Rimexolone(DB00896)|Triamcinolone(DB00620)	TACAGGAGGAGTGGCATTGTC	0.547																																						ENST00000341584.3																			0				central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(11)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	26						c.(7-9)Ctc>Ttc		serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 6	Alclometasone(DB00240)|Beclomethasone(DB00394)|Ciclesonide(DB01410)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Halobetasol Propionate(DB00596)|Medrysone(DB00253)|Mitotane(DB00648)|Paramethasone(DB01384)|Prednisolone(DB00860)|Rimexolone(DB00896)|Triamcinolone(DB00620)						77	81	79					14																	94780979		2203	4300	6503	SO:0001583	missense	866				regulation of proteolysis|transport	extracellular space	serine-type endopeptidase inhibitor activity|steroid binding	g.chr14:94780979G>A	J02943	CCDS9924.1	14q32.13	2014-02-18	2005-08-18		ENSG00000170099	ENSG00000170099		"Serine (or cysteine) peptidase inhibitors"	1540	protein-coding gene	gene with protein product	"corticosteroid binding globulin", "transcortin"	122500	"serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 6"	CBG		3299377, 7912884, 24172014	Standard	NM_001756		Approved		uc001ycv.3	P08185	OTTHUMG00000171346	ENST00000341584.3:c.7C>T	14.37:g.94780979G>A	ENSP00000342850:p.Leu3Phe						p.L3F	NM_001756.3	NP_001747.2	P08185	CBG_HUMAN		COAD - Colon adenocarcinoma(157;0.211)	2	153	-		all_cancers(154;0.0482)|all_epithelial(191;0.166)	3					A8K456|Q7Z2Q9	Missense_Mutation	SNP	ENST00000341584.3	37	c.7C>T	CCDS9924.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.091018	0.76756	.	.	ENSG00000170099	ENST00000341584;ENST00000557225	D;D	0.88586	-2.4;-1.76	4.87	0.179	0.15063	Serpin domain (1);	0.663258	0.12926	N	0.427758	T	0.78033	0.4220	N	0.19112	0.55	0.09310	N	1	B	0.09022	0.002	B	0.08055	0.003	T	0.65286	-0.6205	10	0.46703	T	0.11	.	6.8105	0.23802	0.591:0.0:0.409:0.0	.	3	P08185	CBG_HUMAN	F	3	ENSP00000342850:L3F;ENSP00000452018:L3F	ENSP00000342850:L3F	L	-	1	0	SERPINA6	93850732	0.000000	0.05858	0.000000	0.03702	0.891000	0.51852	0.363000	0.20301	0.140000	0.18849	0.563000	0.77884	CTC		0.547	SERPINA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413065.1	NM_001756		14	101	0	0	0	0.539581	0	14	101					A	94780979	G	A	94780979	3	1	224	1	0	0	0	0	1	0	0	0	14093	1029	36	3	1226	3	SERPINA6	14	94780979	Missense_Mutation	SNP	G	TCGA-HC-7819-01A-11D-2114-08	52424909	94780979	12568561	26	10341											
CSPG4	1464	broad.mit.edu	37	chr15	75982728	75982728	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgtgtggtgagtgtaaactcTagggttccttcgtcctgagt	6	15	13	7	1	1	2	0	2	1	0	4	2	3	2	2	2	1	2	2	2	3	4			TCGA-HC-7819-01A-11D-2114-08	TCGA-HC-7819-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	997549f6-8dde-4b4a-b477-609a535b301f	7f5954b3-ce60-414b-bd40-f46175ba19c4	g.chr15:75982728T>C	ENST00000308508.5	-	3	770	c.678A>G	c.(676-678)ctA>ctG	p.L226L		NM_001897.4	NP_001888.2	Q6UVK1	CSPG4_HUMAN	chondroitin sulfate proteoglycan 4	226	Globular or compact configuration stabilized by disulfide bonds.|Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.|Neurite growth inhibition. {ECO:0000250}.				activation of MAPK activity (GO:0000187)|angiogenesis (GO:0001525)|carbohydrate metabolic process (GO:0005975)|cell proliferation (GO:0008283)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|intracellular signal transduction (GO:0035556)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|small molecule metabolic process (GO:0044281)|tissue remodeling (GO:0048771)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell projection (GO:0042995)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)	protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)			breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4)	48						GTGTAAACTCTAGGGTTCCTT	0.607																																						ENST00000308508.5																			0				breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4)	48						c.(676-678)ctA>ctG		chondroitin sulfate proteoglycan 4							20	22	21					15																	75982728		2187	4271	6458	SO:0001819	synonymous_variant	1464				angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling	apical plasma membrane|cell surface|integral to plasma membrane|intracellular|lamellipodium membrane	protein kinase binding|signal transducer activity	g.chr15:75982728T>C	X96753, AY359468	CCDS10284.1	15q24.2	2010-04-19	2007-02-16		ENSG00000173546	ENSG00000173546		"Proteoglycans / Cell surface : Other"	2466	protein-coding gene	gene with protein product	"melanoma-associated chondroitin sulfate proteoglycan"	601172	"chondroitin sulfate proteoglycan 4 (melanoma-associated)"			8790396, 16407841	Standard	NM_001897		Approved	MCSPG, MEL-CSPG, MSK16, NG2, MCSP, HMW-MAA	uc002baw.3	Q6UVK1	OTTHUMG00000142836	ENST00000308508.5:c.678A>G	15.37:g.75982728T>C							p.L226L	NM_001897.4	NP_001888.2	Q6UVK1	CSPG4_HUMAN			3	770	-			226			Globular or compact configuration stabilized by disulfide bonds.|Laminin G-like 2.|Neurite growth inhibition (By similarity).		D3DW77|Q92675	Silent	SNP	ENST00000308508.5	37	c.678A>G	CCDS10284.1																																																																																				0.607	CSPG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286472.1	NM_001897		3	24	0	0	0	0.184627	0	3	24					C	75982728	T	C	75982728	2	2	224	1	0	0	0	0	0	0	0	1	3960	1509	53	4		4	CSPG4	15	75982728	Silent	SNP	T	TCGA-HC-7819-01A-11D-2114-08		75982728	26548664	27	10342											
CASKIN1	57524	broad.mit.edu	37	chr16	2233835	2233835	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcgcatggaaagctcacctcGggagtcatgcggctgatggt	8	8	15	10	3	2	1	2	1	0	0	3	3	2	3	1	4	2	3	1	4	1	0	rs374360460		TCGA-HC-7819-01A-11D-2114-08	TCGA-HC-7819-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	997549f6-8dde-4b4a-b477-609a535b301f	7f5954b3-ce60-414b-bd40-f46175ba19c4	g.chr16:2233835G>A	ENST00000343516.6	-	15	1616	c.1524C>T	c.(1522-1524)ccC>ccT	p.P508P	CASKIN1_ENST00000564289.1_Intron	NM_020764.3	NP_065815.1	Q8WXD9	CSKI1_HUMAN	CASK interacting protein 1	508	SAM 1. {ECO:0000255|PROSITE- ProRule:PRU00184}.				signal transduction (GO:0007165)	cytoplasm (GO:0005737)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|liver(1)|lung(7)|ovary(4)|prostate(5)|skin(3)	28						AGCTCACCTCGGGAGTCATGC	0.667																																						ENST00000343516.6																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|liver(1)|lung(7)|ovary(4)|prostate(5)|skin(3)	28						c.(1522-1524)ccC>ccT		CASK interacting protein 1							38	48	45					16																	2233835		2173	4279	6452	SO:0001819	synonymous_variant	57524				signal transduction	cytoplasm		g.chr16:2233835G>A	AF451977	CCDS42103.1	16p13.3	2013-01-10				ENSG00000167971		"Sterile alpha motif (SAM) domain containing", "Ankyrin repeat domain containing"	20879	protein-coding gene	gene with protein product		612184				12040031	Standard	NM_020764		Approved	KIAA1306, ANKS5A	uc010bsg.1	Q8WXD9		ENST00000343516.6:c.1524C>T	16.37:g.2233835G>A						CASKIN1_ENST00000564289.1_Intron	p.P508P	NM_020764.3	NP_065815.1	Q8WXD9	CSKI1_HUMAN			15	1616	-			508			SAM 1.		Q9P2P0	Silent	SNP	ENST00000343516.6	37	c.1524C>T	CCDS42103.1																																																																																				0.667	CASKIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435055.1	NM_020764		3	86	0	0	0	0.150653	0	3	86					A	2233835	G	A	2233835	2	1	224	1	0	0	0	0	0	0	0	1	2666	1103	39	2		2	CASKIN1	16	2233835	Silent	SNP	G	TCGA-HC-7819-01A-11D-2114-08		2233835	88120918	28	10343											
SCNN1G	6340	broad.mit.edu	37	chr16	23200962	23200962	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	gcttcaaatgtcatgcacatCgagtccaagcaagtggtggg	11	9	12	9	1	2	0	2	0	0	0	4	1	3	0	1	2	2	3	1	2	3	1	rs372209300		TCGA-HC-7819-01A-11D-2114-08	TCGA-HC-7819-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	997549f6-8dde-4b4a-b477-609a535b301f	7f5954b3-ce60-414b-bd40-f46175ba19c4	g.chr16:23200962C>G	ENST00000300061.2	+	3	731	c.588C>G	c.(586-588)atC>atG	p.I196M		NM_001039.3	NP_001030.2	P51170	SCNNG_HUMAN	sodium channel, non-voltage-gated 1, gamma subunit	196					excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|multicellular organismal water homeostasis (GO:0050891)|response to stimulus (GO:0050896)|sensory perception of taste (GO:0050909)|sodium ion homeostasis (GO:0055078)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|sodium channel complex (GO:0034706)	ligand-gated sodium channel activity (GO:0015280)|sodium channel activity (GO:0005272)|WW domain binding (GO:0050699)			NS(2)|autonomic_ganglia(1)|breast(1)|cervix(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	34				GBM - Glioblastoma multiforme(48;0.0366)	Amiloride(DB00594)|Triamterene(DB00384)	TCATGCACATCGAGTCCAAGC	0.517																																						ENST00000300061.2																			0				NS(2)|autonomic_ganglia(1)|breast(1)|cervix(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	34						c.(586-588)atC>atG		sodium channel, non-voltage-gated 1, gamma subunit	Amiloride(DB00594)|Triamterene(DB00384)						174	171	172					16																	23200962		2197	4300	6497	SO:0001583	missense	6340				excretion|sensory perception of taste	apical plasma membrane|integral to plasma membrane	ligand-gated sodium channel activity|WW domain binding	g.chr16:23200962C>G	U48937	CCDS10608.1	16p12	2012-02-28	2012-02-28		ENSG00000166828	ENSG00000166828		"Ion channels / Sodium channel, nonvoltage-gated", "Sodium channels"	10602	protein-coding gene	gene with protein product		600761	"sodium channel, nonvoltage-gated 1, gamma", "sodium channel, non-voltage-gated 1, gamma"			7490094	Standard	NM_001039		Approved	ENaCgamma, SCNEG	uc002dlm.1	P51170	OTTHUMG00000131609	ENST00000300061.2:c.588C>G	16.37:g.23200962C>G	ENSP00000300061:p.Ile196Met						p.I196M	NM_001039.3	NP_001030.2	P51170	SCNNG_HUMAN		GBM - Glioblastoma multiforme(48;0.0366)	3	731	+			196					P78437|Q6PCC2|Q93023|Q93024|Q93025|Q93026|Q93027|Q96TD2	Missense_Mutation	SNP	ENST00000300061.2	37	c.588C>G	CCDS10608.1	.	.	.	.	.	.	.	.	.	.	C	4.715	0.132882	0.09032	.	.	ENSG00000166828	ENST00000300061	T	0.70631	-0.5	5.75	1.18	0.20946	.	0.796461	0.11179	N	0.591151	T	0.47322	0.1439	N	0.08118	0	0.09310	N	1	B	0.17268	0.021	B	0.20184	0.028	T	0.36792	-0.9733	10	0.46703	T	0.11	-23.2415	5.7057	0.17907	0.0:0.2899:0.4134:0.2966	.	196	P51170	SCNNG_HUMAN	M	196	ENSP00000300061:I196M	ENSP00000300061:I196M	I	+	3	3	SCNN1G	23108463	0.001000	0.12720	0.061000	0.19648	0.432000	0.31715	-1.436000	0.02421	0.289000	0.22422	0.511000	0.50034	ATC		0.517	SCNN1G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254496.1	NM_001039		5	284	0	0	0	0.217242	0	5	284					G	23200962	C	G	23200962	3	3	224	1	0	0	0	0	1	0	0	0	13930	874	31	5	594	5	SCNN1G	16	23200962	Missense_Mutation	SNP	C	TCGA-HC-7819-01A-11D-2114-08	20967127	23200962	67153791	29	10344											
C17orf81	23587	broad.mit.edu	37	chr17	7155834	7155834	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	actgggtcatgacgccatcaGagggcgccagagcagggacc	10	4	15	12	2	2	3	2	1	0	2	2	4	2	4	3	3	1	1	3	3	0	0			TCGA-HC-7819-01A-11D-2114-08	TCGA-HC-7819-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	997549f6-8dde-4b4a-b477-609a535b301f	7f5954b3-ce60-414b-bd40-f46175ba19c4	g.chr17:7155834G>C	ENST00000396628.2	+	1	230	c.13G>C	c.(13-15)Gag>Cag	p.E5Q	ELP5_ENST00000574255.1_Missense_Mutation_p.E5Q|ELP5_ENST00000396627.2_Missense_Mutation_p.E5Q|CTDNEP1_ENST00000574322.1_5'Flank|ELP5_ENST00000356683.2_Missense_Mutation_p.E5Q|ELP5_ENST00000573657.1_Missense_Mutation_p.E5Q|CTDNEP1_ENST00000573600.1_5'Flank|CTDNEP1_ENST00000318988.6_5'Flank|RP1-4G17.5_ENST00000577138.1_Intron|ELP5_ENST00000354429.2_Missense_Mutation_p.E5Q|ELP5_ENST00000574993.1_Missense_Mutation_p.E5Q|CTDNEP1_ENST00000572043.1_5'Flank	NM_203414.1	NP_981959.1	Q8TE02	ELP5_HUMAN	elongator acetyltransferase complex subunit 5	5					chromatin organization (GO:0006325)|positive regulation of cell migration (GO:0030335)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|Elongator holoenzyme complex (GO:0033588)|nucleus (GO:0005634)											GACGCCATCAGAGGGCGCCAG	0.627																																						ENST00000574993.1																			0											c.(13-15)Gag>Cag		elongator acetyltransferase complex subunit 5							55	48	50					17																	7155834		2203	4299	6502	SO:0001583	missense	23587							g.chr17:7155834G>C	BC002762	CCDS11094.1, CCDS11095.1	17p13.1	2012-08-14	2012-08-08	2012-08-08	ENSG00000170291	ENSG00000170291		"Elongator acetyltransferase complex subunits"	30617	protein-coding gene	gene with protein product	"dermal papilla derived protein 6", "S-phase 2 protein"	615019	"chromosome 17 open reading frame 81"	C17orf81		22854966	Standard	NM_203415		Approved	DERP6	uc002gfi.1	Q8TE02	OTTHUMG00000177974	ENST00000396628.2:c.13G>C	17.37:g.7155834G>C	ENSP00000379869:p.Glu5Gln					ELP5_ENST00000573657.1_Missense_Mutation_p.E5Q|ELP5_ENST00000354429.2_Missense_Mutation_p.E5Q|ELP5_ENST00000396627.2_Missense_Mutation_p.E5Q|RP1-4G17.5_ENST00000577138.1_Intron|ELP5_ENST00000356683.2_Missense_Mutation_p.E5Q|ELP5_ENST00000396628.2_Missense_Mutation_p.E5Q|ELP5_ENST00000574255.1_Missense_Mutation_p.E5Q	p.E5Q							1	230	+								A8K1M5|D3DTN9|Q659B6|Q7Z2T4|Q8TDR9|Q9BUB2|Q9Y2Q4	Missense_Mutation	SNP	ENST00000396628.2	37	c.13G>C	CCDS11094.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.986957	0.74589	.	.	ENSG00000170291	ENST00000354429;ENST00000396628;ENST00000396627;ENST00000356683	T;T;T;T	0.54279	1.32;1.32;1.32;0.58	3.85	-0.696	0.11287	.	1.764160	0.03150	N	0.167802	T	0.35828	0.0945	N	0.24115	0.695	0.22656	N	0.998887	B;B;B;B	0.21520	0.007;0.057;0.022;0.002	B;B;B;B	0.16289	0.015;0.01;0.006;0.002	T	0.25745	-1.0123	10	0.62326	D	0.03	2.3874	1.9456	0.03356	0.1063:0.1729:0.3669:0.3539	.	5;5;5;5	Q8TE02-2;Q8TE02-3;A8K1M5;Q8TE02	.;.;.;DERP6_HUMAN	Q	5	ENSP00000346412:E5Q;ENSP00000379869:E5Q;ENSP00000379868:E5Q;ENSP00000349111:E5Q	ENSP00000346412:E5Q	E	+	1	0	C17orf81	7096558	0.889000	0.30405	0.841000	0.33234	0.056000	0.15407	-0.063000	0.11655	-0.064000	0.13043	0.637000	0.83480	GAG		0.627	ELP5-003	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000440111.1	NM_015362		3	31	0	0	0	0.150653	0	3	31					C	7155834	G	C	7155834	3	2	224	1	0	0	0	0	1	0	0	0	1886	943	33	5	15	5	C17orf81	17	7155834	Missense_Mutation	SNP	G	TCGA-HC-7819-01A-11D-2114-08		7155834	74039376	30	10345											
SMCR7	125170	broad.mit.edu	37	chr17	18167778	18167780	+	In_Frame_Del	DEL	GCT	GCT	-																															gacgctgggactcgccggcgGctgctgctgctgctgtgtgc																										TCGA-HC-7819-01A-11D-2114-08	TCGA-HC-7819-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	997549f6-8dde-4b4a-b477-609a535b301f	7f5954b3-ce60-414b-bd40-f46175ba19c4	g.chr17:18167778_18167780delGCT	ENST00000323019.4	+	4	1276_1278	c.1065_1067delGCT	c.(1063-1068)cggctg>cgg	p.L360del	MIEF2_ENST00000395706.2_In_Frame_Del_p.L371del|MIEF2_ENST00000395704.4_3'UTR	NM_001144900.1|NM_139162.3	NP_001138372.1|NP_631901.2	Q96C03	MID49_HUMAN	mitochondrial elongation factor 2	360					mitochondrion organization (GO:0007005)|positive regulation of mitochondrial fission (GO:0090141)|positive regulation of protein homooligomerization (GO:0032464)|positive regulation of protein targeting to membrane (GO:0090314)	integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)		p.L356R(1)									CTCGCCGGCGGCTGCTGCTGCTG	0.685																																						ENST00000323019.4																			1	Substitution - Missense(1)	p.L356R(1)	central_nervous_system(1)	breast(1)|central_nervous_system(1)|endometrium(3)|lung(4)	9						c.(1063-1068)cgg>cg																																						SO:0001651	inframe_deletion	0					integral to membrane	protein binding	g.chr17:18167778_18167780delGCT	BC014973	CCDS11193.1, CCDS45624.1, CCDS45625.1	17p11.2	2013-09-23	2013-09-23	2013-09-23	ENSG00000177427	ENSG00000177427			17920	protein-coding gene	gene with protein product		615498	"Smith-Magenis syndrome chromosome region, candidate 7"	SMCR7		11997338, 21508961	Standard	NM_001144900		Approved	MGC23130, MiD49	uc010vxq.2	Q96C03	OTTHUMG00000059392	ENST00000323019.4:c.1065_1067delGCT	17.37:g.18167787_18167789delGCT	ENSP00000323591:p.Leu360del					SMCR7_ENST00000395704.4_3'UTR|SMCR7_ENST00000395706.2_In_Frame_Del_p.RL366del	p.RL355del	NM_001144900.1|NM_139162.3	NP_001138372.1|NP_631901.2	Q96C03	SMCR7_HUMAN			4	1276_1278	+	all_neural(463;0.228)		355					J3KPT3|Q6ZRD4|Q96N07	In_Frame_Del	DEL	ENST00000323019.4	37	c.1065_1067delGCT	CCDS11193.1																																																																																				0.685	MIEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132060.2	NM_139162		7	75						7	75	---	---	---	---	-	18167780	GCT	-	18167778	7	5	224	1	0	1	0	1	0	0	0	0	14790	1190	42	0	1112	0	SMCR7	17	18167778	In_Frame_Del	DEL	GCT	TCGA-HC-7819-01A-11D-2114-08	11011944	18167778	63027432	31	10346											
LHX1	3975	broad.mit.edu	37	chr17	35297661	35297661	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggtgcggagagcgcggagcaAagtgtttcacctgaactgct	9	8	15	9	3	1	2	1	1	0	1	1	4	1	3	1	3	5	3	1	3	2	1			TCGA-HC-7819-01A-11D-2114-08	TCGA-HC-7819-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	997549f6-8dde-4b4a-b477-609a535b301f	7f5954b3-ce60-414b-bd40-f46175ba19c4	g.chr17:35297661A>T	ENST00000254457.5	+	2	1656	c.245A>T	c.(244-246)aAa>aTa	p.K82I	RP11-445F12.2_ENST00000607336.1_RNA	NM_005568.3	NP_005559.2	P48742	LHX1_HUMAN	LIM homeobox 1	82	LIM zinc-binding 2. {ECO:0000255|PROSITE- ProRule:PRU00125}.				anatomical structure formation involved in morphogenesis (GO:0048646)|anatomical structure morphogenesis (GO:0009653)|anterior/posterior axis specification (GO:0009948)|anterior/posterior pattern specification (GO:0009952)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell-cell signaling (GO:0007267)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cerebellar Purkinje cell differentiation (GO:0021702)|cerebellar Purkinje cell-granule cell precursor cell signaling involved in regulation of granule cell precursor cell proliferation (GO:0021937)|cerebellum development (GO:0021549)|cervix development (GO:0060067)|comma-shaped body morphogenesis (GO:0072049)|dorsal/ventral pattern formation (GO:0009953)|ectoderm formation (GO:0001705)|embryonic pattern specification (GO:0009880)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|embryonic viscerocranium morphogenesis (GO:0048703)|endoderm formation (GO:0001706)|epithelium development (GO:0060429)|forebrain regionalization (GO:0021871)|gastrulation with mouth forming second (GO:0001702)|head development (GO:0060322)|horizontal cell localization (GO:0035852)|kidney development (GO:0001822)|lateral motor column neuron migration (GO:0097477)|mesonephric duct development (GO:0072177)|metanephric comma-shaped body morphogenesis (GO:0072278)|metanephric glomerulus development (GO:0072224)|metanephric part of ureteric bud development (GO:0035502)|metanephric renal vesicle morphogenesis (GO:0072283)|metanephric S-shaped body morphogenesis (GO:0072284)|motor neuron axon guidance (GO:0008045)|negative regulation of transcription, DNA-templated (GO:0045892)|nephric duct elongation (GO:0035849)|nephric duct morphogenesis (GO:0072178)|nervous system development (GO:0007399)|organ morphogenesis (GO:0009887)|oviduct development (GO:0060066)|oviduct epithelium development (GO:0035846)|paramesonephric duct development (GO:0061205)|pattern specification process (GO:0007389)|positive regulation of anterior head development (GO:2000744)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of embryonic development (GO:0040019)|positive regulation of gastrulation (GO:2000543)|positive regulation of nephron tubule epithelial cell differentiation (GO:2000768)|positive regulation of transcription, DNA-templated (GO:0045893)|post-embryonic development (GO:0009791)|primitive streak formation (GO:0090009)|pronephros development (GO:0048793)|regulation of gene expression (GO:0010468)|renal vesicle morphogenesis (GO:0072077)|retina layer formation (GO:0010842)|S-shaped body morphogenesis (GO:0072050)|somite rostral/caudal axis specification (GO:0032525)|spinal cord association neuron differentiation (GO:0021527)|telencephalon development (GO:0021537)|transcription from RNA polymerase II promoter (GO:0006366)|ureteric bud development (GO:0001657)|urogenital system development (GO:0001655)|uterine epithelium development (GO:0035847)|uterus development (GO:0060065)|vagina development (GO:0060068)|ventral spinal cord development (GO:0021517)	nucleus (GO:0005634)|protein complex (GO:0043234)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(1)	16		Breast(25;0.00607)				GCGCGGAGCAAAGTGTTTCAC	0.587																																						ENST00000254457.5																			0				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(1)	16						c.(244-246)aAa>aTa		LIM homeobox 1							70	58	62					17																	35297661		2203	4300	6503	SO:0001583	missense	3975				cerebellar Purkinje cell differentiation|cerebellar Purkinje cell-granule cell precursor cell signaling involved in regulation of granule cell precursor cell proliferation|cervix development|comma-shaped body morphogenesis|dorsal/ventral pattern formation|ectoderm formation|embryonic pattern specification|embryonic retina morphogenesis in camera-type eye|embryonic viscerocranium morphogenesis|endoderm formation|forebrain regionalization|head development|motor axon guidance|negative regulation of transcription, DNA-dependent|nephric duct morphogenesis|nephron tubule epithelial cell differentiation|neuron migration|oviduct epithelium development|paramesonephric duct development|positive regulation of anterior head development|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of embryonic development|positive regulation of gastrulation|positive regulation of transcription, DNA-dependent|post-embryonic development|primitive streak formation|renal vesicle morphogenesis|retina layer formation|S-shaped body morphogenesis|spinal cord association neuron differentiation|transcription from RNA polymerase II promoter|ureteric bud development|uterine epithelium development|vagina development	nucleus|protein complex	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding	g.chr17:35297661A>T	U14755	CCDS11316.1	17q12	2014-04-11			ENSG00000132130	ENSG00000273706		"Homeoboxes / LIM class"	6593	protein-coding gene	gene with protein product		601999				9212161	Standard	NM_005568		Approved	LIM-1, LIM1	uc002hnh.2	P48742	OTTHUMG00000188456	ENST00000254457.5:c.245A>T	17.37:g.35297661A>T	ENSP00000254457:p.Lys82Ile					RP11-445F12.2_ENST00000607336.1_RNA	p.K82I	NM_005568.3	NP_005559.2	P48742	LHX1_HUMAN			2	1656	+		Breast(25;0.00607)	82			LIM zinc-binding 2.		Q3MIW0	Missense_Mutation	SNP	ENST00000254457.5	37	c.245A>T	CCDS11316.1	.	.	.	.	.	.	.	.	.	.	A	16.06	3.016246	0.54468	.	.	ENSG00000132130	ENST00000254457	D	0.89617	-2.54	4.05	4.05	0.47172	Zinc finger, LIM-type (5);	0.000000	0.85682	D	0.000000	D	0.95101	0.8413	M	0.93375	3.41	0.80722	D	1	D	0.67145	0.996	D	0.68621	0.959	D	0.94846	0.8009	10	0.33141	T	0.24	.	14.0485	0.64719	1.0:0.0:0.0:0.0	.	82	P48742	LHX1_HUMAN	I	82	ENSP00000254457:K82I	ENSP00000254457:K82I	K	+	2	0	LHX1	32371774	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.310000	0.78947	2.064000	0.61679	0.459000	0.35465	AAA		0.587	LHX1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000256704.3	NM_005568		3	21	0	0	0	0.115264	0	3	21					T	35297661	A	T	35297661	3	4	224	1	0	0	0	0	1	0	0	0	8770	14	1	5	251	5	LHX1	17	35297661	Missense_Mutation	SNP	A	TCGA-HC-7819-01A-11D-2114-08	17129883	35297661	45897549	32	10347											
RNF43	54894	broad.mit.edu	37	chr17	56434877	56434877	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cggataagggcatggcctgcCctctgcggtgtcagaactcc	7	8	13	13	2	2	1	1	0	1	1	3	2	3	2	3	4	3	1	3	4	2	1			TCGA-HC-7819-01A-11D-2114-08	TCGA-HC-7819-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	997549f6-8dde-4b4a-b477-609a535b301f	7f5954b3-ce60-414b-bd40-f46175ba19c4	g.chr17:56434877C>G	ENST00000584437.1	-	8	4215	c.2260G>C	c.(2260-2262)Ggc>Cgc	p.G754R	RNF43_ENST00000500597.2_Missense_Mutation_p.G713R|RNF43_ENST00000583753.1_Missense_Mutation_p.G713R|RNF43_ENST00000577716.1_Missense_Mutation_p.G754R|RNF43_ENST00000407977.2_Missense_Mutation_p.G754R|BZRAP1-AS1_ENST00000583841.1_RNA|RNF43_ENST00000581868.1_Missense_Mutation_p.G627R|RNF43_ENST00000577625.1_Missense_Mutation_p.G627R			Q68DV7	RNF43_HUMAN	ring finger protein 43	754	Pro-rich.				negative regulation of Wnt signaling pathway (GO:0030178)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|stem cell proliferation (GO:0072089)|Wnt receptor catabolic process (GO:0038018)|Wnt signaling pathway (GO:0016055)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)	frizzled binding (GO:0005109)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|biliary_tract(5)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(14)|lung(9)|ovary(2)|pancreas(10)|prostate(1)|skin(4)	60	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CATGGCCTGCCCTCTGCGGTG	0.597																																						ENST00000584437.1																			0				NS(1)|biliary_tract(5)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(14)|lung(9)|ovary(2)|pancreas(10)|prostate(1)|skin(4)	60						c.(2260-2262)Ggc>Cgc		ring finger protein 43							76	73	74					17																	56434877		2203	4300	6503	SO:0001583	missense	54894					endoplasmic reticulum membrane|integral to membrane|nuclear envelope	ligase activity|protein binding|zinc ion binding	g.chr17:56434877C>G		CCDS11607.1	17q23.2	2013-01-09						"RING-type (C3HC4) zinc fingers"	18505	protein-coding gene	gene with protein product		612482					Standard	NM_017763		Approved	FLJ20315, DKFZp781H0392, URCC	uc002iwh.4	Q68DV7		ENST00000584437.1:c.2260G>C	17.37:g.56434877C>G	ENSP00000463069:p.Gly754Arg					BZRAP1-AS1_ENST00000583841.1_RNA|RNF43_ENST00000581868.1_Missense_Mutation_p.G627R|RNF43_ENST00000577625.1_Missense_Mutation_p.G627R|RNF43_ENST00000583753.1_Missense_Mutation_p.G713R|RNF43_ENST00000577716.1_Missense_Mutation_p.G754R|RNF43_ENST00000500597.2_Missense_Mutation_p.G713R|RNF43_ENST00000407977.2_Missense_Mutation_p.G754R	p.G754R			Q68DV7	RNF43_HUMAN			8	4215	-	Medulloblastoma(34;0.127)|all_neural(34;0.237)		754			Pro-rich.		A8K4R2|B7Z443|B7Z5D5|B7Z5J5|Q65ZA4|Q6AI04|Q9NXD0	Missense_Mutation	SNP	ENST00000584437.1	37	c.2260G>C	CCDS11607.1	.	.	.	.	.	.	.	.	.	.	C	12.13	1.845019	0.32606	.	.	ENSG00000108375	ENST00000407977;ENST00000500597	T;T	0.08370	3.24;3.1	5.71	2.66	0.31614	.	0.395377	0.21743	N	0.069797	T	0.05640	0.0148	N	0.24115	0.695	0.28069	N	0.932672	B;B;B	0.32101	0.033;0.356;0.019	B;B;B	0.29598	0.034;0.104;0.015	T	0.23547	-1.0185	10	0.72032	D	0.01	-7.3176	7.8483	0.29440	0.0:0.742:0.0:0.258	.	713;754;754	Q68DV7-2;Q68DV7-4;Q68DV7	.;.;RNF43_HUMAN	R	754;713	ENSP00000385328:G754R;ENSP00000441969:G713R	ENSP00000385328:G754R	G	-	1	0	RNF43	53789876	0.123000	0.22298	0.857000	0.33713	0.106000	0.19336	0.231000	0.17872	0.359000	0.24239	0.511000	0.50034	GGC		0.597	RNF43-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444713.1	NM_017763		16	99	0	0	0	0.539581	0	16	99					G	56434877	C	G	56434877	3	3	224	1	0	0	0	0	1	0	0	0	13495	623	22	5	99	5	RNF43	17	56434877	Missense_Mutation	SNP	C	TCGA-HC-7819-01A-11D-2114-08	21137216	56434877	24760333	33	10348											
TSHZ3	57616	broad.mit.edu	37	chr19	31770234	31770234	+	Silent	SNP	G	G	A																															ctgccacagctgctgctgctGctactgctgctgctgctgct																										TCGA-HC-7819-01A-11D-2114-08	TCGA-HC-7819-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	997549f6-8dde-4b4a-b477-609a535b301f	7f5954b3-ce60-414b-bd40-f46175ba19c4	g.chr19:31770234G>A	ENST00000240587.4	-	2	792	c.465C>T	c.(463-465)agC>agT	p.S155S		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	155	Ser-rich.				in utero embryonic development (GO:0001701)|kidney morphogenesis (GO:0060993)|kidney smooth muscle cell differentiation (GO:0072195)|lung development (GO:0030324)|metanephros development (GO:0001656)|musculoskeletal movement (GO:0050881)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of smooth muscle cell differentiation (GO:0051152)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|sensory perception of touch (GO:0050975)|transcription, DNA-templated (GO:0006351)|ureter smooth muscle cell differentiation (GO:0072193)|ureteric bud development (GO:0001657)|ureteric peristalsis (GO:0072105)	growth cone (GO:0030426)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.S155S(1)		breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					tgctgctgctgctactgctgc	0.612																																						ENST00000240587.4																			1	Substitution - coding silent(1)	p.S155S(1)	endometrium(1)	breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123						c.(463-465)agC>agT		teashirt zinc finger homeobox 3							38	42	41					19																	31770234		2184	4295	6479	SO:0001819	synonymous_variant	57616				negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:31770234G>A	AL136805	CCDS12421.2	19q13.11	2013-11-20	2007-07-16	2006-03-14	ENSG00000121297	ENSG00000121297		"Teashirt zinc fingers", "Homeoboxes / ZF class", "Zinc fingers, C2H2-type"	30700	protein-coding gene	gene with protein product	"teashirt 3"	614119	"zinc finger protein 537", "teashirt family zinc finger 3"	ZNF537			Standard	NM_020856		Approved	KIAA1474, TSH3	uc002nsy.4	Q63HK5	OTTHUMG00000150184	ENST00000240587.4:c.465C>T	19.37:g.31770234G>A							p.S155S	NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN			2	792	-	Esophageal squamous(110;0.226)		155			Ser-rich.		Q9H0G6|Q9P254	Silent	SNP	ENST00000240587.4	37	c.465C>T	CCDS12421.2																																																																																				0.612	TSHZ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316743.2	NM_020856		3	17	0	0	0	0.115264	0	3	17					A	31770234	G	A	31770234	2	1	224	1	0	0	0	0	0	0	0	1	16622	1310	46	3		3	TSHZ3	19	31770234	Silent	SNP	G	TCGA-HC-7819-01A-11D-2114-08		31770234	27358749	34	10349	53	2									
TSHZ3	57616	broad.mit.edu	37	chr19	31770237	31770237	+	Silent	SNP	A	A	G																															ccacagctgctgctgctgctActgctgctgctgctgctgcc																										TCGA-HC-7819-01A-11D-2114-08	TCGA-HC-7819-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	997549f6-8dde-4b4a-b477-609a535b301f	7f5954b3-ce60-414b-bd40-f46175ba19c4	g.chr19:31770237A>G	ENST00000240587.4	-	2	789	c.462T>C	c.(460-462)agT>agC	p.S154S		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	154	Ser-rich.				in utero embryonic development (GO:0001701)|kidney morphogenesis (GO:0060993)|kidney smooth muscle cell differentiation (GO:0072195)|lung development (GO:0030324)|metanephros development (GO:0001656)|musculoskeletal movement (GO:0050881)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of smooth muscle cell differentiation (GO:0051152)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|sensory perception of touch (GO:0050975)|transcription, DNA-templated (GO:0006351)|ureter smooth muscle cell differentiation (GO:0072193)|ureteric bud development (GO:0001657)|ureteric peristalsis (GO:0072105)	growth cone (GO:0030426)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					tgctgctgctactgctgctgc	0.607																																						ENST00000240587.4																			0				breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123						c.(460-462)agT>agC		teashirt zinc finger homeobox 3							39	44	42					19																	31770237		2184	4294	6478	SO:0001819	synonymous_variant	57616				negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:31770237A>G	AL136805	CCDS12421.2	19q13.11	2013-11-20	2007-07-16	2006-03-14	ENSG00000121297	ENSG00000121297		"Teashirt zinc fingers", "Homeoboxes / ZF class", "Zinc fingers, C2H2-type"	30700	protein-coding gene	gene with protein product	"teashirt 3"	614119	"zinc finger protein 537", "teashirt family zinc finger 3"	ZNF537			Standard	NM_020856		Approved	KIAA1474, TSH3	uc002nsy.4	Q63HK5	OTTHUMG00000150184	ENST00000240587.4:c.462T>C	19.37:g.31770237A>G							p.S154S	NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN			2	789	-	Esophageal squamous(110;0.226)		154			Ser-rich.		Q9H0G6|Q9P254	Silent	SNP	ENST00000240587.4	37	c.462T>C	CCDS12421.2																																																																																				0.607	TSHZ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316743.2	NM_020856		3	18	0	0	0	0.115264	0	3	18					G	31770237	A	G	31770237	2	3	224	1	0	0	0	0	0	0	0	1	16622	388	14	4		4	TSHZ3	19	31770237	Silent	SNP	A	TCGA-HC-7819-01A-11D-2114-08	3	31770237	27358746	35	10350	53	2									
LENG8	114823	broad.mit.edu	37	chr19	54969308	54969308	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	catgaagagtttaaccagtgCcagacgcagctcaagtcgct	12	8	10	11	2	1	3	1	1	0	2	2	3	1	3	2	0	3	4	2	0	3	2			TCGA-HC-7819-01A-11D-2114-08	TCGA-HC-7819-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	997549f6-8dde-4b4a-b477-609a535b301f	7f5954b3-ce60-414b-bd40-f46175ba19c4	g.chr19:54969308C>G	ENST00000326764.5	+	14	2408	c.1929C>G	c.(1927-1929)tgC>tgG	p.C643W	LENG8_ENST00000376514.2_Intron	NM_052925.2	NP_443157.1	Q96PV6	LENG8_HUMAN	leukocyte receptor cluster (LRC) member 8	606										breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.139)		TTAACCAGTGCCAGACGCAGC	0.572																																						ENST00000326764.5																			0				breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30						c.(1927-1929)tgC>tgG		leukocyte receptor cluster (LRC) member 8							104	100	101					19																	54969308		2203	4300	6503	SO:0001583	missense	114823						protein binding	g.chr19:54969308C>G	AF211975	CCDS12894.1	19q13.4	2008-02-05			ENSG00000167615	ENSG00000167615			15500	protein-coding gene	gene with protein product						10941842	Standard	XM_005278248		Approved	KIAA1932, MGC40108, pp13842	uc002qfw.2	Q96PV6	OTTHUMG00000065548	ENST00000326764.5:c.1929C>G	19.37:g.54969308C>G	ENSP00000318374:p.Cys643Trp					LENG8_ENST00000376514.2_Intron	p.C643W	NM_052925.2	NP_443157.1	Q96PV6	LENG8_HUMAN		GBM - Glioblastoma multiforme(193;0.139)	14	2408	+	Ovarian(34;0.19)		606					B0VJY9|Q8IZ27|Q8NCX6	Missense_Mutation	SNP	ENST00000326764.5	37	c.1929C>G	CCDS12894.1	.	.	.	.	.	.	.	.	.	.	C	17.24	3.339571	0.60963	.	.	ENSG00000167615	ENST00000326764;ENST00000301196;ENST00000376526;ENST00000431846	T;T;T	0.36878	1.23;1.23;1.23	5.16	1.9	0.25705	.	0.000000	0.85682	D	0.000000	T	0.63628	0.2527	M	0.92649	3.33	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.65487	-0.6156	10	0.87932	D	0	-55.1587	8.4873	0.33078	0.0:0.7421:0.0:0.2579	.	643;606	Q96PV6-2;F8W9Q9	.;.	W	643;606;606;643	ENSP00000318374:C643W;ENSP00000365709:C606W;ENSP00000388053:C643W	ENSP00000301196:C606W	C	+	3	2	LENG8	59661120	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	2.098000	0.41757	0.296000	0.22592	0.561000	0.74099	TGC		0.572	LENG8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000140523.2	NM_052925		13	123	0	0	0	0.557998	0	13	123					G	54969308	C	G	54969308	3	3	224	1	0	0	0	0	1	0	0	0	8724	747	26	5	1979	5	LENG8	19	54969308	Missense_Mutation	SNP	C	TCGA-HC-7819-01A-11D-2114-08	23199071	54969308	4159675	36	10351											
PTPRA	5786	broad.mit.edu	37	chr20	2988040	2988040	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttgaaggggttccagattctGattacatcaatgcttcattc	10	15	8	8	0	3	3	2	2	1	1	5	3	4	3	1	2	2	2	1	2	3	6			TCGA-HC-7819-01A-11D-2114-08	TCGA-HC-7819-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	997549f6-8dde-4b4a-b477-609a535b301f	7f5954b3-ce60-414b-bd40-f46175ba19c4	g.chr20:2988040G>A	ENST00000216877.6	+	10	1253	c.853G>A	c.(853-855)Gat>Aat	p.D285N	PTPRA_ENST00000380393.3_Missense_Mutation_p.D294N|PTPRA_ENST00000358719.4_Missense_Mutation_p.D150N|PTPRA_ENST00000425918.2_Missense_Mutation_p.D305N|PTPRA_ENST00000356147.3_Missense_Mutation_p.D285N|PTPRA_ENST00000399903.2_Missense_Mutation_p.D294N|PTPRA_ENST00000318266.5_Missense_Mutation_p.D285N	NM_080840.2	NP_543030.1	P18433	PTPRA_HUMAN	protein tyrosine phosphatase, receptor type, A	294	Tyrosine-protein phosphatase 1. {ECO:0000255|PROSITE-ProRule:PRU00160}.				axon guidance (GO:0007411)|insulin receptor signaling pathway (GO:0008286)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein phosphorylation (GO:0006468)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(1)|endometrium(3)|large_intestine(3)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						TCCAGATTCTGATTACATCAA	0.448																																						ENST00000216877.6																			0				NS(1)|breast(1)|endometrium(3)|large_intestine(3)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						c.(853-855)Gat>Aat		protein tyrosine phosphatase, receptor type, A							217	190	199					20																	2988040		2203	4300	6503	SO:0001583	missense	0				axon guidance|protein phosphorylation	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity	g.chr20:2988040G>A		CCDS13038.1, CCDS13039.1	20p13	2011-06-09			ENSG00000132670	ENSG00000132670		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"	9664	protein-coding gene	gene with protein product		176884		PTPRL2, PTPA		2172030, 2169617	Standard	NM_080840		Approved	LRP, HLPR, HPTPA, RPTPA	uc002whn.3	P18433	OTTHUMG00000031718	ENST00000216877.6:c.853G>A	20.37:g.2988040G>A	ENSP00000216877:p.Asp285Asn					PTPRA_ENST00000399903.2_Missense_Mutation_p.D294N|PTPRA_ENST00000358719.4_Missense_Mutation_p.D150N|PTPRA_ENST00000380393.3_Missense_Mutation_p.D294N|PTPRA_ENST00000425918.2_Missense_Mutation_p.D305N|PTPRA_ENST00000318266.5_Missense_Mutation_p.D285N|PTPRA_ENST00000356147.3_Missense_Mutation_p.D285N	p.D285N	NM_080840.2	NP_543030.1	P18433	PTPRA_HUMAN			10	1253	+			294			Tyrosine-protein phosphatase 1.		A8K2G8|D3DVX5|Q14513|Q7Z2I2|Q96TD9	Missense_Mutation	SNP	ENST00000216877.6	37	c.853G>A	CCDS13039.1	.	.	.	.	.	.	.	.	.	.	G	28.9	4.957027	0.92726	.	.	ENSG00000132670	ENST00000380393;ENST00000216877;ENST00000399903;ENST00000358719;ENST00000425918;ENST00000318266;ENST00000356147	T;T;T;T;T;T;T	0.16073	2.37;2.37;2.37;2.37;2.37;2.37;2.37	5.46	5.46	0.80206	Protein-tyrosine phosphatase, receptor/non-receptor type (4);	0.000000	0.85682	U	0.000000	T	0.52125	0.1715	M	0.90019	3.08	0.80722	D	1	D;D;D	0.89917	1.0;0.964;0.992	D;P;P	0.76575	0.988;0.608;0.872	T	0.61088	-0.7133	10	0.87932	D	0	.	19.2614	0.93970	0.0:0.0:1.0:0.0	.	305;294;285	B7Z2A4;P18433;P18433-4	.;PTPRA_HUMAN;.	N	294;285;294;150;305;285;285	ENSP00000369756:D294N;ENSP00000216877:D285N;ENSP00000382787:D294N;ENSP00000351559:D150N;ENSP00000393553:D305N;ENSP00000314568:D285N;ENSP00000348468:D285N	ENSP00000216877:D285N	D	+	1	0	PTPRA	2936040	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.507000	0.90522	2.723000	0.93209	0.650000	0.86243	GAT		0.448	PTPRA-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077682.3			48	95	0	0	0	0.870114	0	48	95					A	2988040	G	A	2988040	3	1	224	1	0	0	0	0	1	0	0	0	12795	1290	45	3	910	3	PTPRA	20	2988040	Missense_Mutation	SNP	G	TCGA-HC-7819-01A-11D-2114-08		2988040	60037480	37	10352											
AGPAT3	56894	broad.mit.edu	37	chr21	45379682	45379682	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgcacgctggcgctctggccGgtcagcaagcagctctaccg	6	7	13	15	4	3	0	1	0	2	0	3	0	3	0	2	3	5	6	2	3	2	1	rs191570129		TCGA-HC-7819-01A-11D-2114-08	TCGA-HC-7819-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	997549f6-8dde-4b4a-b477-609a535b301f	7f5954b3-ce60-414b-bd40-f46175ba19c4	g.chr21:45379682G>A	ENST00000398063.2	+	2	612	c.120G>A	c.(118-120)ccG>ccA	p.P40P	AGPAT3_ENST00000398061.1_Silent_p.P40P|AGPAT3_ENST00000479117.1_3'UTR|AGPAT3_ENST00000398058.1_Silent_p.P40P|AGPAT3_ENST00000291572.8_Silent_p.P40P|AGPAT3_ENST00000546158.1_Silent_p.P40P|AGPAT3_ENST00000327505.2_Silent_p.P40P	NM_001037553.1	NP_001032642.1	Q9NRZ7	PLCC_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 3	40					CDP-diacylglycerol biosynthetic process (GO:0016024)|cellular lipid metabolic process (GO:0044255)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidic acid biosynthetic process (GO:0006654)|phospholipid biosynthetic process (GO:0008654)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	1-acylglycerol-3-phosphate O-acyltransferase activity (GO:0003841)			large_intestine(4)|lung(5)|ovary(1)|prostate(1)	11				STAD - Stomach adenocarcinoma(101;0.18)|Colorectal(79;0.24)		CGCTCTGGCCGGTCAGCAAGC	0.647													G|||	1	0.000199681	0	0	5008	,	,		16272	0		0.001	False		,,,				2504	0				Pancreas(60;623 1650 5574 52796)	ENST00000398063.2																			0				large_intestine(4)|lung(5)|ovary(1)|prostate(1)	11						c.(118-120)ccG>ccA		1-acylglycerol-3-phosphate O-acyltransferase 3							69	51	58					21																	45379682		2203	4300	6503	SO:0001819	synonymous_variant	56894				phospholipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|plasma membrane	1-acylglycerol-3-phosphate O-acyltransferase activity	g.chr21:45379682G>A	AF156774	CCDS13703.1	21q22.3	2013-02-05			ENSG00000160216	ENSG00000160216	2.3.1.51	"1-acylglycerol-3-phosphate O-acyltransferases"	326	protein-coding gene	gene with protein product		614794					Standard	XM_005261159		Approved	LPAAT-gamma	uc002zdw.3	Q9NRZ7	OTTHUMG00000086892	ENST00000398063.2:c.120G>A	21.37:g.45379682G>A						AGPAT3_ENST00000398061.1_Silent_p.P40P|AGPAT3_ENST00000291572.8_Silent_p.P40P|AGPAT3_ENST00000546158.1_Silent_p.P40P|AGPAT3_ENST00000327505.2_Silent_p.P40P|AGPAT3_ENST00000479117.1_3'UTR|AGPAT3_ENST00000398058.1_Silent_p.P40P	p.P40P	NM_001037553.1	NP_001032642.1	Q9NRZ7	PLCC_HUMAN		STAD - Stomach adenocarcinoma(101;0.18)|Colorectal(79;0.24)	2	612	+			40					D3DSL2|Q3ZCU2|Q6UWP6|Q6ZUC6|Q8N3Q7|Q9NRZ6	Silent	SNP	ENST00000398063.2	37	c.120G>A	CCDS13703.1																																																																																				0.647	AGPAT3-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195722.1	NM_020132		4	59	0	0	0	0.150653	0	4	59					A	45379682	G	A	45379682	2	1	224	1	0	0	0	0	0	0	0	1	388	1103	39	2		2	AGPAT3	21	45379682	Silent	SNP	G	TCGA-HC-7819-01A-11D-2114-08		45379682	2750213	38	10353											
TPST2	8459	broad.mit.edu	37	chr22	26937482	26937482	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	catggccccccgggggctccGcaggcccgccagcaccgccc	4	2	13	22	4	0	0	0	0	0	0	1	0	1	0	8	4	1	3	8	4	0	0			TCGA-HC-7819-01A-11D-2114-08	TCGA-HC-7819-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	997549f6-8dde-4b4a-b477-609a535b301f	7f5954b3-ce60-414b-bd40-f46175ba19c4	g.chr22:26937482G>C	ENST00000338754.4	-	3	385	c.115C>G	c.(115-117)Cgg>Ggg	p.R39G	TPST2_ENST00000398110.2_Missense_Mutation_p.R39G|TPST2_ENST00000403880.1_Missense_Mutation_p.R39G	NM_003595.3	NP_003586.3	O60704	TPST2_HUMAN	tyrosylprotein sulfotransferase 2	39					fusion of sperm to egg plasma membrane (GO:0007342)|peptidyl-tyrosine sulfation (GO:0006478)|prevention of polyspermy (GO:0060468)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	protein-tyrosine sulfotransferase activity (GO:0008476)			central_nervous_system(1)|large_intestine(1)|lung(5)	7						CGGGGGCTCCGCAGGCCCGCC	0.701																																						ENST00000338754.4																			0				central_nervous_system(1)|large_intestine(1)|lung(5)	7						c.(115-117)Cgg>Ggg		tyrosylprotein sulfotransferase 2							21	23	23					22																	26937482		2172	4222	6394	SO:0001583	missense	8459				peptidyl-tyrosine sulfation	endoplasmic reticulum|Golgi membrane|integral to membrane|membrane fraction	protein-tyrosine sulfotransferase activity	g.chr22:26937482G>C	AF049891	CCDS13839.1	22q12.1	2012-12-13			ENSG00000128294	ENSG00000128294	2.8.2.20	"Sulfotransferases, membrane-bound"	12021	protein-coding gene	gene with protein product	"transport and golgi organization 13 homolog B (Drosophila)"	603126				9736702, 9733778	Standard	NM_003595		Approved	TANGO13B	uc003acx.3	O60704	OTTHUMG00000150987	ENST00000338754.4:c.115C>G	22.37:g.26937482G>C	ENSP00000339813:p.Arg39Gly					TPST2_ENST00000398110.2_Missense_Mutation_p.R39G|TPST2_ENST00000403880.1_Missense_Mutation_p.R39G	p.R39G	NM_003595.3	NP_003586.3	O60704	TPST2_HUMAN			3	385	-			39					B3KQA7|Q6FI98|Q9H0V4	Missense_Mutation	SNP	ENST00000338754.4	37	c.115C>G	CCDS13839.1	.	.	.	.	.	.	.	.	.	.	G	0.662	-0.805398	0.02819	.	.	ENSG00000128294	ENST00000338754;ENST00000398110;ENST00000403880;ENST00000442495;ENST00000454778;ENST00000440953;ENST00000453117;ENST00000450022	.	.	.	4.95	0.365	0.16131	.	0.551593	0.16246	N	0.222930	T	0.16938	0.0407	N	0.24115	0.695	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.08911	-1.0699	9	0.25751	T	0.34	-12.3132	1.0557	0.01590	0.1894:0.1261:0.3501:0.3344	.	39	O60704	TPST2_HUMAN	G	39	.	ENSP00000339813:R39G	R	-	1	2	TPST2	25267482	0.001000	0.12720	0.136000	0.22124	0.067000	0.16453	0.547000	0.23299	1.095000	0.41419	-0.192000	0.12808	CGG		0.701	TPST2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320820.3	NM_003595		3	41	0	0	0	0.115264	0	3	41					C	26937482	G	C	26937482	3	2	224	1	0	0	0	0	1	0	0	0	16425	1086	38	5	1034	5	TPST2	22	26937482	Missense_Mutation	SNP	G	TCGA-HC-7819-01A-11D-2114-08		26937482	24367084	39	10354											
CELSR1	9620	broad.mit.edu	37	chr22	46785281	46785281	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccagcagctggtaggccgtgCgcacgtcattgccaaagagc	9	6	13	13	3	1	1	1	0	0	1	1	1	1	1	3	2	5	4	3	2	2	2	rs201324896		TCGA-HC-7819-01A-11D-2114-08	TCGA-HC-7819-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	997549f6-8dde-4b4a-b477-609a535b301f	7f5954b3-ce60-414b-bd40-f46175ba19c4	g.chr22:46785281C>A	ENST00000262738.3	-	18	6460	c.6461G>T	c.(6460-6462)cGc>cTc	p.R2154L		NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	2154					anterior/posterior pattern specification (GO:0009952)|apical protein localization (GO:0045176)|central nervous system development (GO:0007417)|establishment of body hair planar orientation (GO:0048105)|establishment of planar polarity (GO:0001736)|establishment of planar polarity of embryonic epithelium (GO:0042249)|G-protein coupled receptor signaling pathway (GO:0007186)|hair follicle development (GO:0001942)|homophilic cell adhesion (GO:0007156)|inner ear morphogenesis (GO:0042472)|lateral sprouting involved in lung morphogenesis (GO:0060490)|locomotory behavior (GO:0007626)|neural tube closure (GO:0001843)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|orthogonal dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060488)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|planar dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060489)|protein localization involved in establishment of planar polarity (GO:0090251)|regulation of actin cytoskeleton organization (GO:0032956)|Rho protein signal transduction (GO:0007266)|wound healing (GO:0042060)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)|protein dimerization activity (GO:0046983)|transmembrane signaling receptor activity (GO:0004888)			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		GTAGGCCGTGCGCACGTCATT	0.672																																						ENST00000262738.3																			0				breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95						c.(6460-6462)cGc>cTc		cadherin, EGF LAG seven-pass G-type receptor 1							43	36	39					22																	46785281		2203	4299	6502	SO:0001583	missense	9620				central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein dimerization activity	g.chr22:46785281C>A	AF231024	CCDS14076.1	22q13.31	2014-08-08	2013-02-18		ENSG00000075275	ENSG00000075275		"Cadherins / Major cadherins", "-", "GPCR / Class B : Orphans"	1850	protein-coding gene	gene with protein product	"flamingo homolog 2 (Drosophila)"	604523	"cadherin, EGF LAG seven-pass G-type receptor 1, flamingo (Drosophila) homolog"			9339365	Standard	XM_006724383		Approved	ME2, HFMI2, FMI2, CDHF9	uc003bhw.1	Q9NYQ6	OTTHUMG00000150423	ENST00000262738.3:c.6461G>T	22.37:g.46785281C>A	ENSP00000262738:p.Arg2154Leu						p.R2154L	NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)	18	6460	-		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)	2154					O95722|Q5TH47|Q9BWQ5|Q9Y506|Q9Y526	Missense_Mutation	SNP	ENST00000262738.3	37	c.6461G>T	CCDS14076.1	.	.	.	.	.	.	.	.	.	.	C	17.75	3.466069	0.63625	.	.	ENSG00000075275	ENST00000262738	T	0.07908	3.15	4.99	3.96	0.45880	Domain of unknown function DUF3497 (1);	0.164522	0.34531	U	0.003884	T	0.25754	0.0627	M	0.76002	2.32	0.80722	D	1	D;D	0.89917	1.0;0.99	D;P	0.79784	0.993;0.866	T	0.05869	-1.0859	10	0.19147	T	0.46	.	14.2812	0.66213	0.1503:0.8497:0.0:0.0	.	475;2154	B7Z7U7;Q9NYQ6	.;CELR1_HUMAN	L	2154	ENSP00000262738:R2154L	ENSP00000262738:R2154L	R	-	2	0	CELSR1	45163945	1.000000	0.71417	0.968000	0.41197	0.878000	0.50629	3.525000	0.53502	1.078000	0.41014	0.655000	0.94253	CGC		0.672	CELSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318037.1	NM_014246		3	38	1	0	0.115264	0.115264	0.120169	3	38					A	46785281	C	A	46785281	3	1	224	1	0	0	0	0	1	0	0	0	3221	768	27	5	2655	5	CELSR1	22	46785281	Missense_Mutation	SNP	C	TCGA-HC-7819-01A-11D-2114-08	19847799	46785281	4519285	40	10355											
TUBGCP6	85378	broad.mit.edu	37	chr22	50659212	50659212	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccaagctgatgctggcatcAgacacgtgtccatgggtgtt	8	10	12	11	1	1	2	1	1	0	1	2	2	2	2	2	2	2	4	2	2	1	1	rs141527317	byFrequency	TCGA-HC-7819-01A-11D-2114-08	TCGA-HC-7819-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	997549f6-8dde-4b4a-b477-609a535b301f	db9ab0ec-cd1f-4e69-935e-8e1665d07473	g.chr22:50659212A>G	ENST00000248846.5	-	16	3680	c.3576T>C	c.(3574-3576)tcT>tcC	p.S1192S	TUBGCP6_ENST00000491449.1_5'UTR|TUBGCP6_ENST00000439308.2_Silent_p.S1192S			Q96RT7	GCP6_HUMAN	tubulin, gamma complex associated protein 6	1192	9 X 27 AA tandem repeats.				G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|gamma-tubulin ring complex (GO:0008274)|membrane (GO:0016020)|microtubule (GO:0005874)|spindle pole (GO:0000922)	microtubule binding (GO:0008017)			breast(4)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(13)|ovary(3)|prostate(2)|skin(2)	45		all_cancers(38;5.79e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21)		TGCTGGCATCAGACACGTGTC	0.617													N|||	3	0.000599042	0	0	5008	,	,		21823	0.002		0	False		,,,				2504	0.001					ENST00000439308.2																			0				breast(4)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(13)|ovary(3)|prostate(2)|skin(2)	45						c.(3574-3576)tcT>tcC		tubulin, gamma complex associated protein 6		G		1,4405		0,1,2202	74	68	70		3576	-9.2	0	22	dbSNP_134	70	1,8599		0,1,4299	no	coding-synonymous	TUBGCP6	NM_020461.3		0,2,6501	GG,GA,AA		0.0116,0.0227,0.0154		1192/1820	50659212	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	85378				G2/M transition of mitotic cell cycle|microtubule nucleation	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	microtubule binding	g.chr22:50659212A>G	AB051456	CCDS14087.1	22q13.31-q13.33	2008-07-01			ENSG00000128159	ENSG00000128159			18127	protein-coding gene	gene with protein product	"gamma-tubulin complex component 6"	610053				11694571, 11258795	Standard	XR_244458		Approved	GCP6, KIAA1669, DJ402G11.6	uc003bkb.1	Q96RT7	OTTHUMG00000030150	ENST00000248846.5:c.3576T>C	22.37:g.50659212A>G						TUBGCP6_ENST00000491449.1_5'UTR|TUBGCP6_ENST00000248846.5_Silent_p.S1192S	p.S1192S	NM_020461.3	NP_065194.2	Q96RT7	GCP6_HUMAN		LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21)	16	4068	-		all_cancers(38;5.79e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)	1192			9 X 27 AA tandem repeats.		Q5JZ80|Q6PJ40|Q86YE9|Q9BY91|Q9UGX3|Q9UGX4	Silent	SNP	ENST00000248846.5	37	c.3576T>C	CCDS14087.1																																																																																				0.617	TUBGCP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075004.3	NM_020461		4	90	0	0	0	0.184627	0	4	90					G	50659212	A	G	50659212	2	3	224	1	0	0	0	0	0	0	0	1	16767	175	7	4		4	TUBGCP6	22	50659212	Silent	SNP	A	TCGA-HC-7819-01A-11D-2114-08	3873931	50659212	645354	41	10356											
CLCNKB	1188	broad.mit.edu	37	chr1	16375645	16375646	+	Frame_Shift_Del	DEL	CC	CC	-																															cagcatcgaggtcatgtcttCccacttctctgtctgggatt																										TCGA-HC-7820-01A-11D-2114-08	TCGA-HC-7820-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba24c391-5c1e-47ed-a058-142c8e1feeee	02ca7fd5-cd78-4345-bbbf-2b803c6bdc01	g.chr1:16375645_16375646delCC	ENST00000375679.4	+	8	797_798	c.686_687delCC	c.(685-687)tccfs	p.S229fs	CLCNKB_ENST00000375667.3_Frame_Shift_Del_p.S60fs	NM_000085.4	NP_000076.2	P51801	CLCKB_HUMAN	chloride channel, voltage-sensitive Kb	229					excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|regulation of anion transport (GO:0044070)|transmembrane transport (GO:0055085)|transport (GO:0006810)	chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	adenyl nucleotide binding (GO:0030554)|metal ion binding (GO:0046872)|voltage-gated chloride channel activity (GO:0005247)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|skin(6)|stomach(2)|urinary_tract(1)	21		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)		GTCATGTCTTCCCACTTCTCTG	0.634																																						ENST00000375679.4																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|skin(6)|stomach(2)|urinary_tract(1)	21						c.(685-687)tfs		chloride channel, voltage-sensitive Kb																																				SO:0001589	frameshift_variant	1188							g.chr1:16375645_16375646delCC	AK098217	CCDS168.1, CCDS57974.1	1p36	2012-09-26	2012-02-23		ENSG00000184908	ENSG00000184908		"Ion channels / Chloride channels : Voltage-sensitive"	2027	protein-coding gene	gene with protein product		602023	"chloride channel Kb"				Standard	NM_000085		Approved	hClC-Kb		P51801	OTTHUMG00000009530	ENST00000375679.4:c.686_687delCC	1.37:g.16375645_16375646delCC	ENSP00000364831:p.Ser229fs					CLCNKB_ENST00000375667.3_Frame_Shift_Del_p.S60fs	p.S229fs	NM_000085.4	NP_000076.2				UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)	8	797_798	+		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)						B3KUY3|Q5T5Q7|Q5T5Q8	Frame_Shift_Del	DEL	ENST00000375679.4	37	c.686_687delCC	CCDS168.1																																																																																				0.634	CLCNKB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026331.1	NM_000085		23	131						23	131	---	---	---	---	-	16375646	CC	-	16375645	7	5	225	1	0	1	0	1	0	0	0	0	3470	855	30	0	860	0	CLCNKB	1	16375645	Frame_Shift_Del	DEL	CC	TCGA-HC-7820-01A-11D-2114-08		16375645	232874976	1	10357											
AKR7L	246181	broad.mit.edu	37	chr1	19597014	19597014	+	RNA	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atctcggccacttcccaggcGgcatagttggagaggccaag	9	7	13	12	2	1	1	0	0	1	1	3	2	2	1	3	5	0	2	3	5	2	3	rs371635302	byFrequency	TCGA-HC-7820-01A-11D-2114-08	TCGA-HC-7820-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba24c391-5c1e-47ed-a058-142c8e1feeee	02ca7fd5-cd78-4345-bbbf-2b803c6bdc01	g.chr1:19597014G>T	ENST00000429712.1	-	0	557				AKR7L_ENST00000420396.2_RNA			Q8NHP1	ARK74_HUMAN	aldo-keto reductase family 7-like							extracellular vesicular exosome (GO:0070062)	oxidoreductase activity (GO:0016491)			breast(1)|endometrium(2)|ovary(1)|prostate(1)|urinary_tract(1)	6						CTTCCCAGGCGGCATAGTTGG	0.622													.|||	4	0.000798722	8e-04	0.0014	5008	,	,		19363	0.001		0	False		,,,				2504	0.001					ENST00000420396.2																			0				breast(1)|endometrium(2)|ovary(1)|prostate(1)|urinary_tract(1)	6								aldo-keto reductase family 7-like		G		0,4406		0,0,2203	64	61	62			-4.4	0	1		62	1,8599	1.2+/-3.3	0,1,4299	no	intergenic				0,1,6502	TT,TG,GG		0.0116,0.0,0.0077			19597014	1,13005	2203	4300	6503			246181							g.chr1:19597014G>T			1p36.1-p35	2008-12-09			ENSG00000211454	ENSG00000211454			24056	protein-coding gene	gene with protein product		608478				12879023	Standard	NR_040288		Approved	AFAR3	uc021ohn.1	Q8NHP1	OTTHUMG00000002520		1.37:g.19597014G>T						AKR7L_ENST00000429712.1_RNA								0	437	-								Q5U614	RNA	SNP	ENST00000429712.1	37			.	.	.	.	.	.	.	.	.	.	G	4.626	0.116388	0.08881	0.0	1.16E-4	ENSG00000211454	ENST00000420396;ENST00000457194	T	0.29917	1.55	4.08	-4.41	0.03590	.	.	.	.	.	T	0.26629	0.0651	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.39961	-0.9588	6	0.72032	D	0.01	.	5.8288	0.18568	0.5481:0.0:0.2165:0.2355	.	.	.	.	Q	34;102	ENSP00000406430:P34Q	ENSP00000406430:P34Q	P	-	2	0	AKR7L	19469601	0.000000	0.05858	0.040000	0.18447	0.018000	0.09664	-3.649000	0.00404	-1.157000	0.02815	-1.038000	0.02383	CCG		0.622	AKR7L-001	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000007163.3	NM_201252		3	74	1	0	0.00116845	0.217242	0.0013554	3	74					T	19597014	G	T	19597014	1	4	225	0	1	0	0	0	0	0	0	0	477	1103	39	5		5	AKR7L	1	19597014	RNA	SNP	G	TCGA-HC-7820-01A-11D-2114-08	3221369	19597014	229653607	2	10358			1	24		2	2	27	N	G_C	4.03135e-05
AKR7L	246181	broad.mit.edu	37	chr1	19597040	19597040	+	RNA	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttggagaggccaagctccaCgaacttgccctgctcgggtg	7	8	14	12	2	0	1	0	0	0	1	2	3	1	1	3	3	4	3	3	3	2	2			TCGA-HC-7820-01A-11D-2114-08	TCGA-HC-7820-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba24c391-5c1e-47ed-a058-142c8e1feeee	02ca7fd5-cd78-4345-bbbf-2b803c6bdc01	g.chr1:19597040C>T	ENST00000429712.1	-	0	531				AKR7L_ENST00000420396.2_RNA			Q8NHP1	ARK74_HUMAN	aldo-keto reductase family 7-like							extracellular vesicular exosome (GO:0070062)	oxidoreductase activity (GO:0016491)			breast(1)|endometrium(2)|ovary(1)|prostate(1)|urinary_tract(1)	6						CCAAGCTCCACGAACTTGCCC	0.617																																						ENST00000420396.2																			0				breast(1)|endometrium(2)|ovary(1)|prostate(1)|urinary_tract(1)	6								aldo-keto reductase family 7-like																																						246181							g.chr1:19597040C>T			1p36.1-p35	2008-12-09			ENSG00000211454	ENSG00000211454			24056	protein-coding gene	gene with protein product		608478				12879023	Standard	NR_040288		Approved	AFAR3	uc021ohn.1	Q8NHP1	OTTHUMG00000002520		1.37:g.19597040C>T						AKR7L_ENST00000429712.1_RNA								0	411	-								Q5U614	RNA	SNP	ENST00000429712.1	37			.	.	.	.	.	.	.	.	.	.	C	4.613	0.113921	0.08831	.	.	ENSG00000211454	ENST00000429712	.	.	.	4.19	2.28	0.28536	NADP-dependent oxidoreductase domain (3);	0.240515	0.40640	N	0.001046	T	0.36496	0.0969	.	.	.	0.80722	D	1	B	0.27853	0.191	B	0.24974	0.057	T	0.14924	-1.0455	8	0.45353	T	0.12	.	3.7801	0.08677	0.0:0.5287:0.1895:0.2817	.	138	Q8NHP1	ARK74_HUMAN	M	138	.	ENSP00000411913:V138M	V	-	1	0	AKR7L	19469627	1.000000	0.71417	0.959000	0.39883	0.066000	0.16364	2.798000	0.47884	0.522000	0.28464	-0.259000	0.10710	GTG		0.617	AKR7L-001	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000007163.3	NM_201252		4	56	0	0	0	0.184627	0	4	56					T	19597040	C	T	19597040	1	4	225	0	1	0	0	0	0	0	0	0	477	536	19	1		1	AKR7L	1	19597040	RNA	SNP	C	TCGA-HC-7820-01A-11D-2114-08	26	19597040	229653581	3	10359			1	24		2	2	27	N	G_C	4.03135e-05
MACF1	23499	broad.mit.edu	37	chr1	39888543	39888543	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccatctgctgagtataaaGtggtgaaagcacagatccaa	14	9	9	9	0	1	3	0	2	1	1	3	3	3	3	2	1	2	3	2	1	5	2			TCGA-HC-7820-01A-11D-2114-08	TCGA-HC-7820-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba24c391-5c1e-47ed-a058-142c8e1feeee	02ca7fd5-cd78-4345-bbbf-2b803c6bdc01	g.chr1:39888543G>C	ENST00000372915.3	+	59	16222	c.16135G>C	c.(16135-16137)Gtg>Ctg	p.V5379L	MACF1_ENST00000564288.1_Missense_Mutation_p.V5374L|MACF1_ENST00000289893.4_Missense_Mutation_p.V3814L|MACF1_ENST00000545844.1_Missense_Mutation_p.V3312L|MACF1_ENST00000317713.7_Missense_Mutation_p.V3312L|MACF1_ENST00000539005.1_Missense_Mutation_p.V3291L|MACF1_ENST00000361689.2_Missense_Mutation_p.V3312L|MACF1_ENST00000567887.1_Missense_Mutation_p.V5411L			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	5379					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			TGAGTATAAAGTGGTGAAAGC	0.458																																						ENST00000564288.1																			0				breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203						c.(16120-16122)Gtg>Ctg		microtubule-actin crosslinking factor 1							74	73	74					1																	39888543		2203	4300	6503	SO:0001583	missense	23499				cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding	g.chr1:39888543G>C	AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"EF-hand domain containing"	13664	protein-coding gene	gene with protein product	"actin cross-linking factor", "620 kDa actin binding protein", "macrophin 1", "trabeculin-alpha", "actin cross-linking family protein 7"	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.16135G>C	1.37:g.39888543G>C	ENSP00000362006:p.Val5379Leu					MACF1_ENST00000539005.1_Missense_Mutation_p.V3291L|MACF1_ENST00000545844.1_Missense_Mutation_p.V3312L|MACF1_ENST00000361689.2_Missense_Mutation_p.V3312L|MACF1_ENST00000567887.1_Missense_Mutation_p.V5411L|MACF1_ENST00000289893.4_Missense_Mutation_p.V3814L|MACF1_ENST00000372915.3_Missense_Mutation_p.V5379L|MACF1_ENST00000317713.7_Missense_Mutation_p.V3312L	p.V5374L			Q9UPN3	MACF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)		60	16897	+	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	5379					B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Missense_Mutation	SNP	ENST00000372915.3	37	c.16120G>C		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	28.6|28.6	4.932544|4.932544	0.92458|0.92458	.|.	.|.	ENSG00000127603|ENSG00000127603	ENST00000372925|ENST00000545844;ENST00000372915;ENST00000361689;ENST00000317713;ENST00000539005;ENST00000289893;ENST00000482035	.|T;T;T;T;T;T;T	.|0.50001	.|0.76;0.76;0.76;0.76;0.76;0.76;0.76	5.96|5.96	5.96|5.96	0.96718|0.96718	.|.	.|0.000000	.|0.56097	.|D	.|0.000030	T|T	0.66839|0.66839	0.2830|0.2830	M|M	0.67517|0.67517	2.055|2.055	0.80722|0.80722	D|D	1|1	.|P;D;P	.|0.54207	.|0.876;0.965;0.909	.|P;P;P	.|0.59424	.|0.613;0.857;0.731	T|T	0.66830|0.66830	-0.5824|-0.5824	5|10	.|0.72032	.|D	.|0.01	.|.	20.4043|20.4043	0.99006|0.99006	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|5379;3312;3256	.|Q9UPN3;F8W8Q1;Q9UPN3-3	.|MACF1_HUMAN;.;.	T|L	2424|3312;5379;3312;3312;3291;3814;128	.|ENSP00000439537:V3312L;ENSP00000362006:V5379L;ENSP00000354573:V3312L;ENSP00000313438:V3312L;ENSP00000444364:V3291L;ENSP00000289893:V3814L;ENSP00000433104:V128L	.|ENSP00000289893:V3814L	S|V	+|+	2|1	0|0	MACF1|MACF1	39661130|39661130	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.976000|0.976000	0.68499|0.68499	9.864000|9.864000	0.99589|0.99589	2.823000|2.823000	0.97156|0.97156	0.650000|0.650000	0.86243|0.86243	AGT|GTG		0.458	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1	NM_033044		4	29	0	0	0	0.184627	0	4	29					C	39888543	G	C	39888543	3	2	225	1	0	0	0	0	1	0	0	0	9144	1029	36	5	16303	5	MACF1	1	39888543	Missense_Mutation	SNP	G	TCGA-HC-7820-01A-11D-2114-08	20291503	39888543	209362078	4	10360											
SYCP1	6847	broad.mit.edu	37	chr1	115489915	115489915	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aacttttgtctgttaagaagCaacttgaaatagaaagagaa	18	11	8	4	0	1	4	0	1	1	3	1	5	1	4	0	0	3	2	0	0	8	5			TCGA-HC-7820-01A-11D-2114-08	TCGA-HC-7820-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba24c391-5c1e-47ed-a058-142c8e1feeee	02ca7fd5-cd78-4345-bbbf-2b803c6bdc01	g.chr1:115489915C>A	ENST00000369522.3	+	27	2536	c.2296C>A	c.(2296-2298)Caa>Aaa	p.Q766K	SYCP1_ENST00000369518.1_Missense_Mutation_p.Q766K	NM_001282541.1|NM_003176.2	NP_001269470.1|NP_003167.2	Q15431	SYCP1_HUMAN	synaptonemal complex protein 1	766					chiasma assembly (GO:0051026)|lateral element assembly (GO:0051878)|meiotic DNA repair synthesis (GO:0000711)|reciprocal meiotic recombination (GO:0007131)|regulation of protein localization (GO:0032880)|sperm chromatin condensation (GO:0035092)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)	central element (GO:0000801)|male germ cell nucleus (GO:0001673)|transverse filament (GO:0000802)	DNA binding (GO:0003677)		RGS22/SYCP1(2)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48	Lung SC(450;0.211)	all_cancers(81;8.65e-08)|all_epithelial(167;3.32e-07)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		TGTTAAGAAGCAACTTGAAAT	0.318																																						ENST00000369522.3																		RGS22/SYCP1(2)	0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48						c.(2296-2298)Caa>Aaa		synaptonemal complex protein 1							65	69	67					1																	115489915		2203	4293	6496	SO:0001583	missense	6847				cell division|reciprocal meiotic recombination|spermatogenesis|synaptonemal complex assembly		DNA binding	g.chr1:115489915C>A	D67035	CCDS879.1, CCDS72840.1	1p13-p12	2009-03-12			ENSG00000198765	ENSG00000198765			11487	protein-coding gene	gene with protein product	"cancer/testis antigen 8"	602162				9560255	Standard	XM_005271154		Approved	HOM-TES-14, SCP1, CT8	uc001efr.3	Q15431	OTTHUMG00000012057	ENST00000369522.3:c.2296C>A	1.37:g.115489915C>A	ENSP00000358535:p.Gln766Lys					SYCP1_ENST00000369518.1_Missense_Mutation_p.Q766K	p.Q766K	NM_003176.2	NP_003167.2	Q15431	SYCP1_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	27	2536	+	Lung SC(450;0.211)	all_cancers(81;8.65e-08)|all_epithelial(167;3.32e-07)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221)	766					O14963|Q5VXJ6	Missense_Mutation	SNP	ENST00000369522.3	37	c.2296C>A	CCDS879.1	.	.	.	.	.	.	.	.	.	.	C	14.33	2.503105	0.44558	.	.	ENSG00000198765	ENST00000369522;ENST00000536734;ENST00000455987;ENST00000369518	T;T;T	0.52754	0.65;0.65;0.65	5.12	3.17	0.36434	.	0.127671	0.53938	D	0.000054	T	0.29158	0.0725	M	0.70275	2.135	0.37689	D	0.923762	B	0.15473	0.013	B	0.20384	0.029	T	0.11131	-1.0600	10	0.33940	T	0.23	-4.035	11.1718	0.48575	0.1442:0.7171:0.1388:0.0	.	766	Q15431	SYCP1_HUMAN	K	766	ENSP00000358535:Q766K;ENSP00000410011:Q766K;ENSP00000358531:Q766K	ENSP00000358531:Q766K	Q	+	1	0	SYCP1	115291438	1.000000	0.71417	0.998000	0.56505	0.888000	0.51559	1.619000	0.36965	0.621000	0.30232	0.650000	0.86243	CAA		0.318	SYCP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033386.1	NM_003176		12	58	1	0	1.05317e-09	0.457914	1.32791e-09	12	58					A	115489915	C	A	115489915	3	1	225	1	0	0	0	0	1	0	0	0	15428	711	25	5	2398	5	SYCP1	1	115489915	Missense_Mutation	SNP	C	TCGA-HC-7820-01A-11D-2114-08	75601372	115489915	133760706	5	10361											
RYR2	6262	broad.mit.edu	37	chr1	237753955	237753955	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gctaggtgaccagaatagacGgcaccatagacagttcccca	13	6	10	12	1	0	4	0	1	0	3	1	4	1	4	4	2	0	3	4	2	4	4			TCGA-HC-7820-01A-11D-2114-08	TCGA-HC-7820-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba24c391-5c1e-47ed-a058-142c8e1feeee	02ca7fd5-cd78-4345-bbbf-2b803c6bdc01	g.chr1:237753955G>A	ENST00000366574.2	+	31	4140	c.3823G>A	c.(3823-3825)Ggc>Agc	p.G1275S	RYR2_ENST00000542537.1_Missense_Mutation_p.G1259S|RYR2_ENST00000360064.6_Missense_Mutation_p.G1273S	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1275	4 X approximate repeats.				BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)	p.G1273R(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			CAGAATAGACGGCACCATAGA	0.423																																						ENST00000366574.2																			1	Substitution - Missense(1)	p.G1273R(1)	lung(1)	NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586						c.(3823-3825)Ggc>Agc		ryanodine receptor 2 (cardiac)							187	179	182					1																	237753955		1953	4142	6095	SO:0001583	missense	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237753955G>A	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"Ion channels / Ryanodine receptors", "EF-hand domain containing"	10484	protein-coding gene	gene with protein product		180902	"arrhythmogenic right ventricular dysplasia 2"	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.3823G>A	1.37:g.237753955G>A	ENSP00000355533:p.Gly1275Ser					RYR2_ENST00000542537.1_Missense_Mutation_p.G1259S|RYR2_ENST00000360064.6_Missense_Mutation_p.G1273S	p.G1275S	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		31	4140	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	1275			4 X approximate repeats.		Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	c.3823G>A	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	g	20.4	3.989559	0.74589	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	D;D;D	0.96774	-4.12;-4.1;-4.11	5.03	5.03	0.67393	.	0.000000	0.64402	D	0.000015	D	0.95771	0.8624	M	0.73962	2.25	0.80722	D	1	B	0.12013	0.005	B	0.08055	0.003	D	0.93296	0.6672	10	0.72032	D	0.01	.	18.915	0.92501	0.0:0.0:1.0:0.0	.	1275	Q92736	RYR2_HUMAN	S	1275;1273;1259	ENSP00000355533:G1275S;ENSP00000353174:G1273S;ENSP00000443798:G1259S	ENSP00000353174:G1273S	G	+	1	0	RYR2	235820578	1.000000	0.71417	0.998000	0.56505	0.989000	0.77384	9.597000	0.98273	2.777000	0.95525	0.655000	0.94253	GGC		0.423	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		19	105	0	0	0	0.592651	0	19	105					A	237753955	G	A	237753955	3	1	225	1	0	0	0	0	1	0	0	0	13769	1116	39	2	3945	2	RYR2	1	237753955	Missense_Mutation	SNP	G	TCGA-HC-7820-01A-11D-2114-08	122264040	237753955	11496666	6	10362											
LRRTM1	347730	broad.mit.edu	37	chr2	80529936	80529936	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggcgcactgcaagttgccatCgtagcgcccctggaagttgt	7	9	13	12	3	0	0	0	0	0	0	1	1	0	1	3	2	3	5	3	2	3	3			TCGA-HC-7820-01A-11D-2114-08	TCGA-HC-7820-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba24c391-5c1e-47ed-a058-142c8e1feeee	02ca7fd5-cd78-4345-bbbf-2b803c6bdc01	g.chr2:80529936C>T	ENST00000295057.3	-	2	1665	c.1009G>A	c.(1009-1011)Gat>Aat	p.D337N	CTNNA2_ENST00000402739.4_Intron|CTNNA2_ENST00000541047.1_Intron|CTNNA2_ENST00000361291.4_Intron|CTNNA2_ENST00000540488.1_Intron|CTNNA2_ENST00000466387.1_Intron|LRRTM1_ENST00000409148.1_Missense_Mutation_p.D337N|CTNNA2_ENST00000496558.1_Intron	NM_178839.4	NP_849161.2	Q86UE6	LRRT1_HUMAN	leucine rich repeat transmembrane neuronal 1	337	LRRCT.				exploration behavior (GO:0035640)|locomotory behavior (GO:0007626)|long-term synaptic potentiation (GO:0060291)|negative regulation of receptor internalization (GO:0002091)|protein localization to synapse (GO:0035418)|synapse organization (GO:0050808)	axon (GO:0030424)|cell junction (GO:0030054)|endoplasmic reticulum (GO:0005783)|excitatory synapse (GO:0060076)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)				NS(1)|breast(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(33)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	63						AAGTTGCCATCGTAGCGCCCC	0.657										HNSCC(69;0.2)																												ENST00000295057.3																			0				NS(1)|breast(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(33)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	63						c.(1009-1011)Gat>Aat		leucine rich repeat transmembrane neuronal 1							29	27	27					2																	80529936		2203	4300	6503	SO:0001583	missense	347730					axon|endoplasmic reticulum membrane|growth cone|integral to membrane		g.chr2:80529936C>T	AY358310	CCDS1966.1	2p12	2004-06-22			ENSG00000162951	ENSG00000162951			19408	protein-coding gene	gene with protein product		610867				12676565	Standard	XR_244930		Approved	FLJ32082	uc002sok.1	Q86UE6	OTTHUMG00000130021	ENST00000295057.3:c.1009G>A	2.37:g.80529936C>T	ENSP00000295057:p.Asp337Asn	HNSCC(69;0.2)				LRRTM1_ENST00000409148.1_Missense_Mutation_p.D337N|CTNNA2_ENST00000496558.1_Intron|CTNNA2_ENST00000466387.1_Intron|CTNNA2_ENST00000361291.4_Intron|CTNNA2_ENST00000541047.1_Intron|CTNNA2_ENST00000402739.4_Intron|CTNNA2_ENST00000540488.1_Intron	p.D337N	NM_178839.4	NP_849161.2	Q86UE6	LRRT1_HUMAN			2	1665	-			337			LRRCT.		A8K397|D6W5K1|Q96DN1	Missense_Mutation	SNP	ENST00000295057.3	37	c.1009G>A	CCDS1966.1	.	.	.	.	.	.	.	.	.	.	C	27.0	4.789431	0.90367	.	.	ENSG00000162951	ENST00000295057;ENST00000409148	T;T	0.42900	0.96;0.96	5.32	5.32	0.75619	.	0.000000	0.85682	U	0.000000	T	0.58694	0.2140	L	0.58428	1.81	0.80722	D	1	D	0.71674	0.998	P	0.60012	0.867	T	0.56165	-0.8024	9	.	.	.	.	18.995	0.92809	0.0:1.0:0.0:0.0	.	337	Q86UE6	LRRT1_HUMAN	N	337	ENSP00000295057:D337N;ENSP00000386646:D337N	.	D	-	1	0	LRRTM1	80383447	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	7.808000	0.86044	2.452000	0.82932	0.655000	0.94253	GAT		0.657	LRRTM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313614.1	NM_178839		4	22	0	0	0	0.184627	0	4	22					T	80529936	C	T	80529936	3	4	225	1	0	0	0	0	1	0	0	0	9039	884	31	2	563	2	LRRTM1	2	80529936	Missense_Mutation	SNP	C	TCGA-HC-7820-01A-11D-2114-08		80529936	162669437	7	10363											
EIF2AK3	9451	broad.mit.edu	37	chr2	88874185	88874185	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atgctccacaaatacagaccTtgaggtccctgtgcatcagt	11	10	8	12	0	1	2	1	1	0	1	3	2	3	2	3	1	3	2	3	1	2	2			TCGA-HC-7820-01A-11D-2114-08	TCGA-HC-7820-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba24c391-5c1e-47ed-a058-142c8e1feeee	02ca7fd5-cd78-4345-bbbf-2b803c6bdc01	g.chr2:88874185T>C	ENST00000303236.3	-	13	3117	c.2816A>G	c.(2815-2817)aAg>aGg	p.K939R	EIF2AK3_ENST00000470706.1_5'UTR|EIF2AK3_ENST00000419748.1_Splice_Site_p.K788R|AC104134.2_ENST00000413234.1_RNA	NM_004836.5	NP_004827.4	Q9NZJ5	E2AK3_HUMAN	eukaryotic translation initiation factor 2-alpha kinase 3	939	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of signaling protein activity involved in unfolded protein response (GO:0006987)|bone mineralization (GO:0030282)|calcium-mediated signaling (GO:0019722)|cellular protein metabolic process (GO:0044267)|chondrocyte development (GO:0002063)|endocrine pancreas development (GO:0031018)|endoplasmic reticulum organization (GO:0007029)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER overload response (GO:0006983)|fat cell differentiation (GO:0045444)|insulin secretion (GO:0030073)|insulin-like growth factor receptor signaling pathway (GO:0048009)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|lactation (GO:0007595)|negative regulation of apoptotic process (GO:0043066)|negative regulation of gene expression (GO:0010629)|negative regulation of myelination (GO:0031642)|negative regulation of translation (GO:0017148)|negative regulation of translational initiation in response to stress (GO:0032057)|ossification (GO:0001503)|positive regulation of protein binding (GO:0032092)|positive regulation of signal transduction (GO:0009967)|protein autophosphorylation (GO:0046777)|protein homooligomerization (GO:0051260)|protein phosphorylation (GO:0006468)|regulation of fatty acid metabolic process (GO:0019217)|response to endoplasmic reticulum stress (GO:0034976)|skeletal system development (GO:0001501)|SREBP signaling pathway (GO:0032933)|translation (GO:0006412)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|eukaryotic translation initiation factor 2alpha kinase activity (GO:0004694)|identical protein binding (GO:0042802)|protein kinase activity (GO:0004672)|protein phosphatase binding (GO:0019903)|protein serine/threonine kinase activity (GO:0004674)			ovary(3)	3						AATACAGACCTTGAGGTCCCT	0.488																																					GBM(138;671 1851 16235 39058 45249)	ENST00000303236.3																			0				ovary(3)	3						c.e13+1		eukaryotic translation initiation factor 2-alpha kinase 3							74	70	71					2																	88874185		2203	4300	6503	SO:0001630	splice_region_variant	9451				activation of caspase activity|bone mineralization|calcium-mediated signaling|chondrocyte development|endocrine pancreas development|endoplasmic reticulum organization|endoplasmic reticulum unfolded protein response|ER overload response|insulin secretion|insulin-like growth factor receptor signaling pathway|negative regulation of myelination|negative regulation of translational initiation in response to stress|protein autophosphorylation|protein homooligomerization	endoplasmic reticulum membrane|integral to membrane	ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|identical protein binding	g.chr2:88874185T>C	AF110146	CCDS33241.1	2p12	2008-05-21			ENSG00000172071	ENSG00000172071			3255	protein-coding gene	gene with protein product		604032				10026192, 10575235	Standard	NM_004836		Approved	PEK, PERK	uc002stc.4	Q9NZJ5	OTTHUMG00000155046	ENST00000303236.3:c.2817+1A>G	2.37:g.88874185T>C						EIF2AK3_ENST00000470706.1_5'UTR|EIF2AK3_ENST00000419748.1_Splice_Site_p.K788_splice|AC104134.2_ENST00000413234.1_RNA	p.K939_splice	NM_004836.5	NP_004827.4	Q9NZJ5	E2AK3_HUMAN			13	3117	-			939			Protein kinase.		A0AVH1|A0AVH2|B2RCU9|O95846|Q53QY0|Q53SB1	Splice_Site	SNP	ENST00000303236.3	37	c.2817_splice	CCDS33241.1	.	.	.	.	.	.	.	.	.	.	T	29.1	4.977975	0.92982	.	.	ENSG00000172071	ENST00000419748;ENST00000303236;ENST00000535951;ENST00000415570	D;D;D	0.90900	-2.75;-2.75;-2.75	5.65	5.65	0.86999	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.96685	0.8918	H	0.94808	3.585	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.97784	1.0234	10	0.87932	D	0	-13.3376	15.8817	0.79208	0.0:0.0:0.0:1.0	.	939	Q9NZJ5	E2AK3_HUMAN	R	788;939;788;818	ENSP00000408325:K788R;ENSP00000307235:K939R;ENSP00000412076:K818R	ENSP00000307235:K939R	K	-	2	0	EIF2AK3	88655300	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	8.040000	0.89188	2.156000	0.67533	0.460000	0.39030	AAG		0.488	EIF2AK3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000338233.2	NM_004836	Missense_Mutation	4	17	0	0	0	0.150653	0	4	17					C	88874185	T	C	88874185	5	2	225	1	0	0	0	0	0	0	1	0	4998	1623	56	4	554	4	EIF2AK3	2	88874185	Splice_Site	SNP	T	TCGA-HC-7820-01A-11D-2114-08	8344249	88874185	154325188	8	10364											
ALPP	250	broad.mit.edu	37	chr2	233246234	233246234	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cgagtatcggcagcagtcagCagtgcccctggacgaagaga	11	5	14	11	3	1	1	1	0	0	1	2	5	1	2	2	2	3	4	2	2	2	1			TCGA-HC-7820-01A-11D-2114-08	TCGA-HC-7820-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba24c391-5c1e-47ed-a058-142c8e1feeee	02ca7fd5-cd78-4345-bbbf-2b803c6bdc01	g.chr2:233246234C>T	ENST00000392027.2	+	11	1606	c.1337C>T	c.(1336-1338)gCa>gTa	p.A446V	AC068134.8_ENST00000439072.1_RNA|AC068134.8_ENST00000441266.1_RNA	NM_001632.3	NP_001623.3	P05187	PPB1_HUMAN	alkaline phosphatase, placental	446					dephosphorylation (GO:0016311)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alkaline phosphatase activity (GO:0004035)|magnesium ion binding (GO:0000287)|zinc ion binding (GO:0008270)			NS(1)|biliary_tract(1)|endometrium(1)|kidney(4)|large_intestine(2)|liver(1)|lung(10)|ovary(2)	22		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)		CAGCAGTCAGCAGTGCCCCTG	0.667																																						ENST00000392027.2																			0				NS(1)|biliary_tract(1)|endometrium(1)|kidney(4)|large_intestine(2)|liver(1)|lung(10)|ovary(2)	22						c.(1336-1338)gCa>gTa		alkaline phosphatase, placental							26	30	29					2																	233246234		2202	4300	6502	SO:0001583	missense	250					anchored to membrane|cell surface|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding	g.chr2:233246234C>T	M14169	CCDS2490.1	2q37.1	2010-06-24	2010-06-24		ENSG00000163283	ENSG00000163283	3.1.3.1		439	protein-coding gene	gene with protein product	"Regan isozyme"	171800	"alkaline phosphatase, placental (Regan isozyme)"			3001717, 3461452	Standard	XM_005246439		Approved		uc002vsq.3	P05187	OTTHUMG00000133255	ENST00000392027.2:c.1337C>T	2.37:g.233246234C>T	ENSP00000375881:p.Ala446Val					AC068134.8_ENST00000441266.1_RNA	p.A446V	NM_001632.3	NP_001623.3	P05187	PPB1_HUMAN		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)	11	1606	+		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)	446					P05188|P06861|Q53S78|Q96DB7	Missense_Mutation	SNP	ENST00000392027.2	37	c.1337C>T	CCDS2490.1	.	.	.	.	.	.	.	.	.	.	C	17.20	3.328057	0.60743	.	.	ENSG00000163283	ENST00000392027	D	0.96940	-4.18	2.35	2.35	0.29111	Alkaline phosphatase-like, alpha/beta/alpha (1);Alkaline-phosphatase-like, core domain (1);	0.000000	0.85682	D	0.000000	D	0.96439	0.8838	M	0.69185	2.1	0.58432	D	0.999994	D	0.64830	0.994	P	0.54965	0.765	D	0.95897	0.8912	10	0.54805	T	0.06	.	13.0087	0.58720	0.0:1.0:0.0:0.0	.	446	P05187	PPB1_HUMAN	V	446	ENSP00000375881:A446V	ENSP00000375881:A446V	A	+	2	0	ALPP	232954478	1.000000	0.71417	0.022000	0.16811	0.139000	0.21198	5.278000	0.65592	1.294000	0.44707	0.305000	0.20034	GCA		0.667	ALPP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257032.3	NM_001632		10	22	0	0	0	0.435327	0	10	22					T	233246234	C	T	233246234	3	4	225	1	0	0	0	0	1	0	0	0	548	710	25	3	1379	3	ALPP	2	233246234	Missense_Mutation	SNP	C	TCGA-HC-7820-01A-11D-2114-08	144372049	233246234	9953139	9	10365											
ARIH2	10425	broad.mit.edu	37	chr3	49004609	49004609	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cagtgtgtatgcagtttgtgCgaaaggaaaacctactctct	11	12	10	8	1	1	0	0	0	1	0	2	2	1	1	1	1	4	3	1	1	5	3	rs554254556	byFrequency	TCGA-HC-7820-01A-11D-2114-08	TCGA-HC-7820-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba24c391-5c1e-47ed-a058-142c8e1feeee	02ca7fd5-cd78-4345-bbbf-2b803c6bdc01	g.chr3:49004609C>T	ENST00000356401.4	+	6	778	c.439C>T	c.(439-441)Cga>Tga	p.R147*	ARIH2_ENST00000449376.1_Nonsense_Mutation_p.R147*|ARIH2_ENST00000490095.1_3'UTR	NM_006321.2	NP_006312.1	O95376	ARI2_HUMAN	ariadne RBR E3 ubiquitin protein ligase 2	147					developmental cell growth (GO:0048588)|hematopoietic stem cell proliferation (GO:0071425)|multicellular organismal development (GO:0007275)|protein K48-linked ubiquitination (GO:0070936)|protein K63-linked ubiquitination (GO:0070534)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|nucleic acid binding (GO:0003676)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)	13				BRCA - Breast invasive adenocarcinoma(193;9.42e-05)|Kidney(197;0.00258)|KIRC - Kidney renal clear cell carcinoma(197;0.00269)		GCAGTTTGTGCGAAAGGAAAA	0.572																																						ENST00000356401.4																			0				cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)	13						c.(439-441)Cga>Tga		ariadne RBR E3 ubiquitin protein ligase 2							217	188	198					3																	49004609		2203	4300	6503	SO:0001587	stop_gained	10425				developmental cell growth|hemopoietic stem cell proliferation|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr3:49004609C>T	AF099149	CCDS2780.1	3p21	2013-10-03	2013-10-03		ENSG00000177479	ENSG00000177479			690	protein-coding gene	gene with protein product	"all-trans retinoic acid inducible RING finger"	605615	"ariadne (Drosophila) homolog 2", "ariadne homolog 2 (Drosophila)"			10422847, 24058416	Standard	XM_005264798		Approved	TRIAD1	uc003cvb.3	O95376	OTTHUMG00000133547	ENST00000356401.4:c.439C>T	3.37:g.49004609C>T	ENSP00000348769:p.Arg147*					ARIH2_ENST00000449376.1_Nonsense_Mutation_p.R147*|ARIH2_ENST00000490095.1_3'UTR	p.R147*	NM_006321.2	NP_006312.1	O95376	ARI2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;9.42e-05)|Kidney(197;0.00258)|KIRC - Kidney renal clear cell carcinoma(197;0.00269)	6	778	+			147					Q9HBZ6|Q9UEM9	Nonsense_Mutation	SNP	ENST00000356401.4	37	c.439C>T	CCDS2780.1	.	.	.	.	.	.	.	.	.	.	C	38	6.816055	0.97861	.	.	ENSG00000177479	ENST00000356401;ENST00000449376;ENST00000444790	.	.	.	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.8917	0.96932	0.0:1.0:0.0:0.0	.	.	.	.	X	147;147;146	.	.	R	+	1	2	ARIH2	48979613	0.998000	0.40836	1.000000	0.80357	0.974000	0.67602	3.552000	0.53705	2.705000	0.92388	0.591000	0.81541	CGA		0.572	ARIH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257525.1	NM_006321		14	145	0	0	0	0.500413	0	14	145					T	49004609	C	T	49004609	4	4	225	1	0	0	0	0	0	1	0	0	924	760	27	1	453	1	ARIH2	3	49004609	Nonsense_Mutation	SNP	C	TCGA-HC-7820-01A-11D-2114-08		49004609	149017821	10	10366											
SIDT1	54847	broad.mit.edu	37	chr3	113325954	113325954	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgtgctcaccccttgggcGtcctgaggtaaacccagtcc	6	10	10	15	1	2	1	1	1	1	0	4	1	4	1	5	2	2	2	5	2	2	2	rs146353910	byFrequency	TCGA-HC-7820-01A-11D-2114-08	TCGA-HC-7820-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba24c391-5c1e-47ed-a058-142c8e1feeee	02ca7fd5-cd78-4345-bbbf-2b803c6bdc01	g.chr3:113325954G>A	ENST00000264852.4	+	15	2197	c.1471G>A	c.(1471-1473)Gtc>Atc	p.V491I	SIDT1_ENST00000393830.3_Missense_Mutation_p.V491I|SIDT1_ENST00000463226.1_Intron	NM_017699.2	NP_060169.2	Q9NXL6	SIDT1_HUMAN	SID1 transmembrane family, member 1	491					dsRNA transport (GO:0033227)	integral component of membrane (GO:0016021)	RNA transmembrane transporter activity (GO:0051033)			breast(1)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|liver(2)|lung(15)|ovary(3)|pancreas(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50						CCCCTTGGGCGTCCTGAGGTA	0.433													G|||	4	0.000798722	0.0023	0	5008	,	,		22105	0		0	False		,,,				2504	0.001					ENST00000264852.4																			0				breast(1)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|liver(2)|lung(15)|ovary(3)|pancreas(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50						c.(1471-1473)Gtc>Atc		SID1 transmembrane family, member 1		G	ILE/VAL	4,4402	8.1+/-20.4	0,4,2199	109	91	97		1471	4.8	0.9	3	dbSNP_134	97	0,8600		0,0,4300	yes	missense	SIDT1	NM_017699.2	29	0,4,6499	AA,AG,GG		0.0,0.0908,0.0308	benign	491/828	113325954	4,13002	2203	4300	6503	SO:0001583	missense	54847					integral to membrane		g.chr3:113325954G>A	AK000181	CCDS2974.1	3q13.31	2009-11-26			ENSG00000072858	ENSG00000072858			25967	protein-coding gene	gene with protein product		606816					Standard	NM_017699		Approved	FLJ20174, SID-1	uc003eak.3	Q9NXL6	OTTHUMG00000159299	ENST00000264852.4:c.1471G>A	3.37:g.113325954G>A	ENSP00000264852:p.Val491Ile					SIDT1_ENST00000463226.1_Intron|SIDT1_ENST00000393830.3_Missense_Mutation_p.V491I	p.V491I	NM_017699.2	NP_060169.2	Q9NXL6	SIDT1_HUMAN			15	2197	+			491					Q17RR4	Missense_Mutation	SNP	ENST00000264852.4	37	c.1471G>A	CCDS2974.1	3	0.0013736263736263737	3	0.006097560975609756	0	0.0	0	0.0	0	0.0	G	13.93	2.383501	0.42207	9.08E-4	0.0	ENSG00000072858	ENST00000264852;ENST00000393830	T;T	0.22743	1.94;1.94	5.7	4.83	0.62350	.	0.290182	0.29684	N	0.011469	T	0.10121	0.0248	N	0.16790	0.44	0.42273	D	0.992067	B;B	0.19583	0.03;0.037	B;B	0.23419	0.027;0.046	T	0.08432	-1.0722	10	0.18276	T	0.48	-16.5783	14.7068	0.69198	0.0692:0.0:0.9308:0.0	.	491;491	Q9NXL6-2;Q9NXL6	.;SIDT1_HUMAN	I	491	ENSP00000264852:V491I;ENSP00000377416:V491I	ENSP00000264852:V491I	V	+	1	0	SIDT1	114808644	1.000000	0.71417	0.919000	0.36401	0.995000	0.86356	4.200000	0.58433	1.417000	0.47077	0.655000	0.94253	GTC		0.433	SIDT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317564.1	NM_017699		3	58	0	0	0	0.150653	0	3	58					A	113325954	G	A	113325954	3	1	225	1	0	0	0	0	1	0	0	0	14302	1145	40	1	1529	1	SIDT1	3	113325954	Missense_Mutation	SNP	G	TCGA-HC-7820-01A-11D-2114-08	64321345	113325954	84696476	11	10367											
ZBBX	79740	broad.mit.edu	37	chr3	167000276	167000276	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gctgttgaaggtctctgtgaTttctgacctaaaattaaaag	12	14	9	6	0	2	3	0	3	2	0	3	3	2	3	1	1	0	2	1	1	5	4			TCGA-HC-7820-01A-11D-2114-08	TCGA-HC-7820-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba24c391-5c1e-47ed-a058-142c8e1feeee	02ca7fd5-cd78-4345-bbbf-2b803c6bdc01	g.chr3:167000276T>C	ENST00000392766.2	-	19	2227	c.1887A>G	c.(1885-1887)aaA>aaG	p.K629K	ZBBX_ENST00000392767.2_Silent_p.K629K|ZBBX_ENST00000307529.5_Silent_p.K668K|ZBBX_ENST00000455345.2_Silent_p.K668K|ZBBX_ENST00000392764.1_Silent_p.K600K	NM_001199201.1|NM_024687.3	NP_001186130.1|NP_078963.2	A8MT70	ZBBX_HUMAN	zinc finger, B-box domain containing	629						intracellular (GO:0005622)	zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(9)|liver(1)|lung(38)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	70						GTCTCTGTGATTTCTGACCTA	0.353																																						ENST00000392766.2																			0				NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(9)|liver(1)|lung(38)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	70						c.(1885-1887)aaA>aaG		zinc finger, B-box domain containing							97	95	96					3																	167000276		1807	4061	5868	SO:0001819	synonymous_variant	79740					intracellular	zinc ion binding	g.chr3:167000276T>C	AK026702	CCDS3199.2, CCDS56295.1, CCDS56296.1	3q26.1	2010-03-23			ENSG00000169064	ENSG00000169064			26245	protein-coding gene	gene with protein product						12477932	Standard	NM_024687		Approved	FLJ23049	uc011bpc.2	A8MT70	OTTHUMG00000133560	ENST00000392766.2:c.1887A>G	3.37:g.167000276T>C						ZBBX_ENST00000307529.5_Silent_p.K668K|ZBBX_ENST00000392764.1_Silent_p.K600K|ZBBX_ENST00000455345.2_Silent_p.K668K|ZBBX_ENST00000392767.2_Silent_p.K629K	p.K629K	NM_001199201.1|NM_024687.3	NP_001186130.1|NP_078963.2	A8MT70	ZBBX_HUMAN			19	2227	-			629					A8MV69|B3KSC1|B5MDJ6|F2Z370|Q9H5T8	Silent	SNP	ENST00000392766.2	37	c.1887A>G	CCDS3199.2																																																																																				0.353	ZBBX-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000257657.3	NM_024687		3	70	0	0	0	0.150653	0	3	70					C	167000276	T	C	167000276	2	2	225	1	0	0	0	0	0	0	0	1	17513	1490	52	4		4	ZBBX	3	167000276	Silent	SNP	T	TCGA-HC-7820-01A-11D-2114-08	53674322	167000276	31022154	12	10368											
NLGN1	22871	broad.mit.edu	37	chr3	173322456	173322456	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gatggcatgcttggtacaccGgggattgggtgccccattga	7	10	15	9	1	0	1	0	1	0	0	0	3	0	2	3	5	3	3	3	5	1	4			TCGA-HC-7820-01A-11D-2114-08	TCGA-HC-7820-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba24c391-5c1e-47ed-a058-142c8e1feeee	02ca7fd5-cd78-4345-bbbf-2b803c6bdc01	g.chr3:173322456G>A	ENST00000457714.1	+	3	497	c.68G>A	c.(67-69)cGg>cAg	p.R23Q	NLGN1_ENST00000545397.1_Missense_Mutation_p.R23Q|NLGN1_ENST00000361589.4_Missense_Mutation_p.R23Q|NLGN1_ENST00000401917.3_Missense_Mutation_p.R23Q	NM_014932.2	NP_055747.1	Q8N2Q7	NLGN1_HUMAN	neuroligin 1	23					alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor clustering (GO:0097113)|calcium-dependent cell-cell adhesion (GO:0016339)|cytoskeletal matrix organization at active zone (GO:0048789)|establishment of protein localization (GO:0045184)|heterophilic cell-cell adhesion (GO:0007157)|N-methyl-D-aspartate receptor clustering (GO:0097114)|nervous system development (GO:0007399)|neurexin clustering (GO:0097115)|neuron cell-cell adhesion (GO:0007158)|neuronal signal transduction (GO:0023041)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of ruffle assembly (GO:1900029)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of synaptic vesicle endocytosis (GO:1900244)|positive regulation of synaptic vesicle exocytosis (GO:2000302)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|protein heterotetramerization (GO:0051290)|protein homooligomerization (GO:0051260)|protein localization to synapse (GO:0035418)|protein targeting (GO:0006605)|receptor localization to synapse (GO:0097120)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of neuron differentiation (GO:0045664)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|synapse assembly (GO:0007416)|synaptic vesicle clustering (GO:0097091)|synaptic vesicle targeting (GO:0016080)|terminal button organization (GO:0072553)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|filopodium tip (GO:0032433)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal postsynaptic density (GO:0097481)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|neurexin family protein binding (GO:0042043)|PDZ domain binding (GO:0030165)|protein dimerization activity (GO:0046983)|receptor activity (GO:0004872)	p.R23L(2)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(2)|lung(54)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	83	Ovarian(172;0.0025)		LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13)			TTGGTACACCGGGGATTGGGT	0.507																																						ENST00000457714.1																			2	Substitution - Missense(2)	p.R23L(2)	lung(2)	breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(2)|lung(54)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	83						c.(67-69)cGg>cAg		neuroligin 1							209	190	196					3																	173322456		2203	4300	6503	SO:0001583	missense	22871				calcium-dependent cell-cell adhesion|neuron cell-cell adhesion|neuronal signal transduction|positive regulation of dendritic spine development|positive regulation of excitatory postsynaptic membrane potential|positive regulation of intracellular protein kinase cascade|positive regulation of synaptogenesis|protein targeting|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|regulation of N-methyl-D-aspartate selective glutamate receptor activity|synapse assembly|synaptic vesicle targeting	cell junction|cell surface|dendrite|integral to plasma membrane|postsynaptic density|postsynaptic membrane	cell adhesion molecule binding|neurexin binding|receptor activity	g.chr3:173322456G>A	AB028993	CCDS3222.1	3q26.32	2008-07-18			ENSG00000169760	ENSG00000169760			14291	protein-coding gene	gene with protein product		600568				10767552, 10819331	Standard	NM_014932		Approved	KIAA1070	uc003fio.1	Q8N2Q7	OTTHUMG00000157005	ENST00000457714.1:c.68G>A	3.37:g.173322456G>A	ENSP00000392500:p.Arg23Gln					NLGN1_ENST00000401917.3_Missense_Mutation_p.R23Q|NLGN1_ENST00000545397.1_Missense_Mutation_p.R23Q|NLGN1_ENST00000361589.4_Missense_Mutation_p.R23Q	p.R23Q	NM_014932.2	NP_055747.1	Q8N2Q7	NLGN1_HUMAN	LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13)		3	497	+	Ovarian(172;0.0025)		23					Q9UPT2	Missense_Mutation	SNP	ENST00000457714.1	37	c.68G>A	CCDS3222.1	.	.	.	.	.	.	.	.	.	.	G	6.074	0.381872	0.11524	.	.	ENSG00000169760	ENST00000457714;ENST00000361589;ENST00000415045;ENST00000545397;ENST00000401917	T;T;T;T;T	0.70749	-0.18;-0.18;-0.51;-0.18;-0.19	5.62	3.51	0.40186	.	0.305841	0.27284	N	0.020077	T	0.43010	0.1228	N	0.14661	0.345	0.18873	N	0.999989	B;B	0.25772	0.054;0.134	B;B	0.15870	0.005;0.014	T	0.12734	-1.0536	10	0.12430	T	0.62	.	3.2497	0.06810	0.0839:0.2085:0.4264:0.2811	.	23;23	D2X2H5;Q8N2Q7-2	.;.	Q	23	ENSP00000392500:R23Q;ENSP00000354541:R23Q;ENSP00000410374:R23Q;ENSP00000441108:R23Q;ENSP00000385750:R23Q	ENSP00000354541:R23Q	R	+	2	0	NLGN1	174805150	0.867000	0.29959	0.988000	0.46212	0.362000	0.29581	0.733000	0.26087	1.351000	0.45789	0.467000	0.42956	CGG		0.507	NLGN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000347054.3	NM_014932		27	84	0	0	0	0.693898	0	27	84					A	173322456	G	A	173322456	3	1	225	1	0	0	0	0	1	0	0	0	10461	1116	39	2	70	2	NLGN1	3	173322456	Missense_Mutation	SNP	G	TCGA-HC-7820-01A-11D-2114-08	6322180	173322456	24699974	13	10369											
OPA1	4976	broad.mit.edu	37	chr3	193361334	193361334	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aagactgtgacatcaggcatGgctcctgacacaaaggaaac	15	6	10	10	0	1	3	1	2	0	1	2	4	2	4	1	3	1	2	1	3	3	0			TCGA-HC-7820-01A-11D-2114-08	TCGA-HC-7820-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba24c391-5c1e-47ed-a058-142c8e1feeee	02ca7fd5-cd78-4345-bbbf-2b803c6bdc01	g.chr3:193361334G>A	ENST00000392438.3	+	13	1464	c.1230G>A	c.(1228-1230)atG>atA	p.M410I	OPA1_ENST00000361908.3_Missense_Mutation_p.M447I|OPA1_ENST00000361150.2_Missense_Mutation_p.M411I|OPA1_ENST00000361715.2_Missense_Mutation_p.M429I|OPA1_ENST00000361510.2_Missense_Mutation_p.M465I|OPA1_ENST00000361828.2_Missense_Mutation_p.M428I	NM_015560.2	NP_056375.2	O60313	OPA1_HUMAN	optic atrophy 1 (autosomal dominant)	410	Dynamin-type G.				apoptotic process (GO:0006915)|axon transport of mitochondrion (GO:0019896)|cellular senescence (GO:0090398)|GTP catabolic process (GO:0006184)|inner mitochondrial membrane organization (GO:0007007)|mitochondrial fission (GO:0000266)|mitochondrial fusion (GO:0008053)|mitochondrion organization (GO:0007005)|negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902236)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|neural tube closure (GO:0001843)|visual perception (GO:0007601)	dendrite (GO:0030425)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial crista (GO:0030061)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|magnesium ion binding (GO:0000287)			breast(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(4)|lung(15)|upper_aerodigestive_tract(1)|urinary_tract(2)	31	all_cancers(143;9.56e-09)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;9.19e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000162)		CATCAGGCATGGCTCCTGACA	0.308																																						ENST00000361510.2																			0				breast(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(4)|lung(15)|upper_aerodigestive_tract(1)|urinary_tract(2)	31						c.(1393-1395)atG>atA		optic atrophy 1 (autosomal dominant)							86	84	85					3																	193361334		2203	4299	6502	SO:0001583	missense	4976				apoptosis|axon transport of mitochondrion|inner mitochondrial membrane organization|mitochondrial fission|mitochondrial fusion|positive regulation of anti-apoptosis|response to stimulus|visual perception	dendrite|integral to membrane|mitochondrial crista|mitochondrial intermembrane space|mitochondrial outer membrane	GTP binding|GTPase activity|magnesium ion binding|protein binding	g.chr3:193361334G>A	AB011139	CCDS33917.1, CCDS43186.1	3q29	2014-09-17			ENSG00000198836	ENSG00000198836			8140	protein-coding gene	gene with protein product	"mitochondrial dynamin-like GTPase", "dynamin-like guanosine triphosphatase", "Dynamin-like 120 kDa protein, mitochondrial"	605290				9490303	Standard	NM_015560		Approved	NTG, KIAA0567, FLJ12460, NPG, MGM1	uc003ftg.3	O60313	OTTHUMG00000149897	ENST00000392438.3:c.1230G>A	3.37:g.193361334G>A	ENSP00000376233:p.Met410Ile					OPA1_ENST00000361150.2_Missense_Mutation_p.M411I|OPA1_ENST00000361715.2_Missense_Mutation_p.M429I|OPA1_ENST00000392438.3_Missense_Mutation_p.M410I|OPA1_ENST00000361908.3_Missense_Mutation_p.M447I|OPA1_ENST00000361828.2_Missense_Mutation_p.M428I	p.M465I	NM_130837.2	NP_570850.2	O60313	OPA1_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;9.19e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000162)	15	1629	+	all_cancers(143;9.56e-09)|Ovarian(172;0.0386)		410					D3DNW4	Missense_Mutation	SNP	ENST00000392438.3	37	c.1395G>A	CCDS43186.1	.	.	.	.	.	.	.	.	.	.	G	26.8	4.770527	0.90108	.	.	ENSG00000198836	ENST00000361908;ENST00000392438;ENST00000361510;ENST00000361715;ENST00000361828;ENST00000361150	D;D;D;D;D;D	0.96716	-4.1;-4.1;-4.1;-4.1;-4.1;-4.1	5.79	5.79	0.91817	Dynamin, GTPase domain (2);	0.000000	0.85682	D	0.000000	D	0.97219	0.9091	L	0.42744	1.35	0.80722	D	1	D;D;D;D;D;D;D;D	0.69078	0.977;0.985;0.977;0.977;0.997;0.977;0.969;0.988	D;D;D;D;D;D;D;D	0.81914	0.966;0.977;0.966;0.966;0.995;0.966;0.968;0.954	D	0.97873	1.0287	10	0.87932	D	0	-20.891	18.5901	0.91208	0.0:0.0:1.0:0.0	.	374;410;392;411;428;447;429;465	E5KLK2;O60313;E5KLK0;E5KLK1;E5KLJ6;E5KLJ7;E5KLJ9;E5KLJ5	.;OPA1_HUMAN;.;.;.;.;.;.	I	447;410;465;429;428;411	ENSP00000354681:M447I;ENSP00000376233:M410I;ENSP00000355324:M465I;ENSP00000355311:M429I;ENSP00000354429:M428I;ENSP00000354781:M411I	ENSP00000354781:M411I	M	+	3	0	OPA1	194844028	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.803000	0.99136	2.735000	0.93741	0.655000	0.94253	ATG		0.308	OPA1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000313812.2	NM_130837		11	46	0	0	0	0.38729	0	11	46					A	193361334	G	A	193361334	3	1	225	1	0	0	0	0	1	0	0	0	10871	1348	47	3	1453	3	OPA1	3	193361334	Missense_Mutation	SNP	G	TCGA-HC-7820-01A-11D-2114-08	20038878	193361334	4661096	14	10370											
CD38	952	broad.mit.edu	37	chr4	15835906	15835906	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caaccctgtttcagtattctGgaaaacggtttcccgcaggg	9	11	10	11	2	2	0	1	0	1	0	3	1	3	1	2	3	2	4	2	3	4	4			TCGA-HC-7820-01A-11D-2114-08	TCGA-HC-7820-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba24c391-5c1e-47ed-a058-142c8e1feeee	02ca7fd5-cd78-4345-bbbf-2b803c6bdc01	g.chr4:15835906G>A	ENST00000226279.3	+	4	703	c.566G>A	c.(565-567)tGg>tAg	p.W189*		NM_001775.2	NP_001766.2	P28907	CD38_HUMAN	CD38 molecule	189					apoptotic signaling pathway (GO:0097190)|B cell receptor signaling pathway (GO:0050853)|female pregnancy (GO:0007565)|long term synaptic depression (GO:0060292)|negative regulation of apoptotic process (GO:0043066)|negative regulation of bone resorption (GO:0045779)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cell growth (GO:0030307)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of insulin secretion (GO:0032024)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of vasoconstriction (GO:0045907)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to hydroperoxide (GO:0033194)|response to hypoxia (GO:0001666)|response to interleukin-1 (GO:0070555)|response to progesterone (GO:0032570)|response to retinoic acid (GO:0032526)|signal transduction (GO:0007165)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	NAD(P)+ nucleosidase activity (GO:0050135)|NAD+ nucleosidase activity (GO:0003953)|phosphorus-oxygen lyase activity (GO:0016849)|transferase activity (GO:0016740)			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|stomach(1)	14						TCAGTATTCTGGAAAACGGTT	0.398																																						ENST00000226279.2																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|stomach(1)	14						c.(565-567)tGg>tAg		CD38 molecule							82	80	81					4																	15835906		2203	4300	6503	SO:0001587	stop_gained	952				B cell receptor signaling pathway|induction of apoptosis by extracellular signals|negative regulation of apoptosis|negative regulation of transcription, DNA-dependent|positive regulation of B cell proliferation|positive regulation of transcription, DNA-dependent|response to drug	integral to membrane|plasma membrane	binding|NAD+ nucleosidase activity|receptor activity	g.chr4:15835906G>A	D84276	CCDS3417.1	4p15.32	2010-05-04	2006-03-28		ENSG00000004468	ENSG00000004468	3.2.2.5	"CD molecules"	1667	protein-coding gene	gene with protein product	"ADP-ribosyl cyclase 1", "NAD(+) nucleosidase"	107270	"CD38 antigen (p45)"			9074508, 2319135	Standard	NM_001775		Approved		uc003gol.1	P28907	OTTHUMG00000048206	ENST00000226279.3:c.566G>A	4.37:g.15835906G>A	ENSP00000226279:p.Trp189*						p.W189*	NM_001775.2	NP_001766.2	P28907	CD38_HUMAN			4	703	+			189					O00121|O00122|Q96HY4	Nonsense_Mutation	SNP	ENST00000226279.3	37	c.566G>A	CCDS3417.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.06|14.06	2.421318|2.421318	0.42918|0.42918	.|.	.|.	ENSG00000004468|ENSG00000004468	ENST00000540195|ENST00000226279;ENST00000510674	.|.	.|.	.|.	5.4|5.4	5.4|5.4	0.78164|0.78164	.|.	.|0.055638	.|0.85682	.|D	.|0.000000	T|.	0.36303|.	0.0962|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.29792|.	-1.0000|.	4|.	0.87932|0.02654	D|T	0|1	-22.2153|-22.2153	15.032|15.032	0.71713|0.71713	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	R|X	144|189;77	.|.	ENSP00000442176:G144R|ENSP00000226279:W189X	G|W	+|+	1|2	0|0	CD38|CD38	15445004|15445004	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.095000|0.095000	0.18619|0.18619	4.837000|4.837000	0.62796|0.62796	2.683000|2.683000	0.91414|0.91414	0.650000|0.650000	0.86243|0.86243	GGA|TGG		0.398	CD38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250322.2	NM_001775		26	54	0	0	0	0.760397	0	26	54					A	15835906	G	A	15835906	4	1	225	1	0	0	0	0	0	1	0	0	3009	1357	47	3	580	3	CD38	4	15835906	Nonsense_Mutation	SNP	G	TCGA-HC-7820-01A-11D-2114-08		15835906	175318370	15	10371											
YTHDC1	91746	broad.mit.edu	37	chr4	69198540	69198540	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acagcacgaacggaagatgaTaatttctcatgcttcttttc	12	13	7	9	2	2	2	1	1	2	1	4	4	2	3	0	1	3	2	0	1	3	5			TCGA-HC-7820-01A-11D-2114-08	TCGA-HC-7820-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba24c391-5c1e-47ed-a058-142c8e1feeee	02ca7fd5-cd78-4345-bbbf-2b803c6bdc01	g.chr4:69198540T>C	ENST00000344157.4	-	6	1334	c.999A>G	c.(997-999)ttA>ttG	p.L333L	YTHDC1_ENST00000579690.1_Silent_p.L333L|YTHDC1_ENST00000355665.3_Intron	NM_001031732.2	NP_001026902.1	Q96MU7	YTDC1_HUMAN	YTH domain containing 1	333					mRNA splice site selection (GO:0006376)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	30						CGGAAGATGATAATTTCTCAT	0.328																																						ENST00000344157.4																			0				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	30						c.(997-999)ttA>ttG		YTH domain containing 1							99	89	93					4																	69198540		2202	4299	6501	SO:0001819	synonymous_variant	91746							g.chr4:69198540T>C	AK098515	CCDS3522.2, CCDS33992.1	4q13.3	2009-01-14			ENSG00000083896	ENSG00000083896			30626	protein-coding gene	gene with protein product						12368078, 10564280	Standard	XM_005265706		Approved	YT521, KIAA1966, YT521-B	uc003hdx.3	Q96MU7	OTTHUMG00000129306	ENST00000344157.4:c.999A>G	4.37:g.69198540T>C						YTHDC1_ENST00000355665.3_Intron|YTHDC1_ENST00000579690.1_Silent_p.L333L	p.L333L	NM_001031732.2	NP_001026902.1	Q96MU7	YTDC1_HUMAN			6	1334	-			333					Q4W5Q3|Q7Z622|Q8TF35	Silent	SNP	ENST00000344157.4	37	c.999A>G	CCDS33992.1																																																																																				0.328	YTHDC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251437.1	NM_133370		4	46	0	0	0	0.217242	0	4	46					C	69198540	T	C	69198540	2	2	225	1	0	0	0	0	0	0	0	1	17493	1403	49	4		4	YTHDC1	4	69198540	Silent	SNP	T	TCGA-HC-7820-01A-11D-2114-08	53362634	69198540	121955736	16	10372											
COL25A1	84570	broad.mit.edu	37	chr4	109740459	109740459	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccaggctggcctggctccccTttttcccccttaacgccacg	4	10	8	19	2	0	0	0	0	0	0	2	0	2	0	7	3	1	2	7	3	1	3			TCGA-HC-7820-01A-11D-2114-08	TCGA-HC-7820-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba24c391-5c1e-47ed-a058-142c8e1feeee	02ca7fd5-cd78-4345-bbbf-2b803c6bdc01	g.chr4:109740459T>C	ENST00000399132.1	-	36	2402	c.1872A>G	c.(1870-1872)aaA>aaG	p.K624K		NM_198721.2	NP_942014.1			collagen, type XXV, alpha 1											NS(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	49		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000173)		CTGGCTCCCCTTTTTCCCCCT	0.453																																						ENST00000399132.1																			0				NS(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	49						c.(1870-1872)aaA>aaG		collagen, type XXV, alpha 1							74	77	76					4																	109740459		1891	4107	5998	SO:0001819	synonymous_variant	84570					collagen|extracellular space	beta-amyloid binding|heparin binding	g.chr4:109740459T>C	AF293340	CCDS43258.1, CCDS43259.1, CCDS58922.1	4q25	2013-01-16			ENSG00000188517	ENSG00000188517		"Collagens"	18603	protein-coding gene	gene with protein product		610004				11927537	Standard	NM_001256074		Approved		uc003hze.2	Q9BXS0	OTTHUMG00000150039	ENST00000399132.1:c.1872A>G	4.37:g.109740459T>C							p.K624K	NM_198721.2	NP_942014.1	Q9BXS0	COPA1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000173)	36	2402	-		Hepatocellular(203;0.217)	624			Collagen-like 7.			Silent	SNP	ENST00000399132.1	37	c.1872A>G	CCDS43258.1																																																																																				0.453	COL25A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315938.2	NM_032518		3	50	0	0	0	0.150653	0	3	50					C	109740459	T	C	109740459	2	2	225	1	0	0	0	0	0	0	0	1	3684	1606	56	4		4	COL25A1	4	109740459	Silent	SNP	T	TCGA-HC-7820-01A-11D-2114-08	40541919	109740459	81413817	17	10373											
C6orf10	10665	broad.mit.edu	37	chr6	32260980	32260982	+	In_Frame_Del	DEL	CTT	CTT	-																															cctttatcctcaaaactctcCttcttttcttgggcttcctg																										TCGA-HC-7820-01A-11D-2114-08	TCGA-HC-7820-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba24c391-5c1e-47ed-a058-142c8e1feeee	02ca7fd5-cd78-4345-bbbf-2b803c6bdc01	g.chr6:32260980_32260982delCTT	ENST00000447241.2	-	23	1640_1642	c.1468_1470delAAG	c.(1468-1470)aagdel	p.K490del	C6orf10_ENST00000527965.1_In_Frame_Del_p.K474del|C6orf10_ENST00000375007.4_In_Frame_Del_p.K488del|C6orf10_ENST00000533191.1_In_Frame_Del_p.K488del|C6orf10_ENST00000375015.4_In_Frame_Del_p.K489del|C6orf10_ENST00000442822.2_Intron	NM_006781.3	NP_006772.3	Q5SRN2	CF010_HUMAN	chromosome 6 open reading frame 10	490	Lys-rich.					integral component of membrane (GO:0016021)|nucleus (GO:0005634)				cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|skin(1)	25						CAAAACTCTCCTTCTTTTCTTGG	0.379																																						ENST00000375015.4																			0				cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|skin(1)	25						c.(1465-1467)del		chromosome 6 open reading frame 10																																				SO:0001651	inframe_deletion	10665					integral to membrane		g.chr6:32260980_32260982delCTT	U60665	CCDS34422.1, CCDS69082.1, CCDS75430.1	6p21.32	2012-11-20			ENSG00000204296	ENSG00000204296			13922	protein-coding gene	gene with protein product	"testis specific basic protein"					10803852	Standard	XM_005248810		Approved	TSBP	uc021yvs.1	Q5SRN2	OTTHUMG00000031107	ENST00000447241.2:c.1468_1470delAAG	6.37:g.32260983_32260985delCTT	ENSP00000415517:p.Lys490del					C6orf10_ENST00000527965.1_In_Frame_Del_p.K474del|C6orf10_ENST00000447241.2_In_Frame_Del_p.K490del|C6orf10_ENST00000442822.2_Intron|C6orf10_ENST00000375007.4_In_Frame_Del_p.K488del|C6orf10_ENST00000533191.1_In_Frame_Del_p.K488del	p.K489del			Q5SRN2	CF010_HUMAN			26	1665_1667	-			490			Lys-rich.		A2BET1|A2BET2|A6NME2|B0S7R2|B0S7R3|E9PMB1|Q5SPI9|Q5SPJ0|Q5SPK9|Q5SPL0|Q5SRN3|Q5TG25|Q5TG26|Q8N4B6	In_Frame_Del	DEL	ENST00000447241.2	37	c.1465_1467delAAG	CCDS34422.1																																																																																				0.379	C6orf10-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000076178.4	NM_006781		23	100						23	100	---	---	---	---	-	32260982	CTT	-	32260980	7	5	225	1	0	1	0	1	0	0	0	0	2317	680	24	0	225	0	C6orf10	6	32260980	In_Frame_Del	DEL	CTT	TCGA-HC-7820-01A-11D-2114-08		32260980	138854087	18	10374											
SMPDL3A	10924	broad.mit.edu	37	chr6	123127403	123127403	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccagtaaattctttgtttgtGgctcctgctgttacaccagt	7	16	8	10	0	1	0	0	0	1	0	2	0	2	0	3	1	2	5	3	1	3	5	rs41292582	byFrequency	TCGA-HC-7820-01A-11D-2114-08	TCGA-HC-7820-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba24c391-5c1e-47ed-a058-142c8e1feeee	02ca7fd5-cd78-4345-bbbf-2b803c6bdc01	g.chr6:123127403G>A	ENST00000368440.4	+	7	1122	c.945G>A	c.(943-945)gtG>gtA	p.V315V	SMPDL3A_ENST00000539041.1_Silent_p.V184V	NM_006714.3	NP_006705.1	Q92484	ASM3A_HUMAN	sphingomyelin phosphodiesterase, acid-like 3A	315					sphingomyelin catabolic process (GO:0006685)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	hydrolase activity, acting on glycosyl bonds (GO:0016798)|sphingomyelin phosphodiesterase activity (GO:0004767)			breast(1)|cervix(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	10				GBM - Glioblastoma multiforme(226;0.236)		CTTTGTTTGTGGCTCCTGCTG	0.323													G|||	2	0.000399361	0	0	5008	,	,		16869	0		0.002	False		,,,				2504	0					ENST00000368440.4																			0				breast(1)|cervix(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	10						c.(943-945)gtG>gtA		sphingomyelin phosphodiesterase, acid-like 3A		G		1,4405	2.1+/-5.4	0,1,2202	111	110	110		945	5.8	1	6	dbSNP_127	110	7,8593	5.7+/-21.5	0,7,4293	no	coding-synonymous	SMPDL3A	NM_006714.3		0,8,6495	AA,AG,GG		0.0814,0.0227,0.0615		315/454	123127403	8,12998	2203	4300	6503	SO:0001819	synonymous_variant	10924				sphingomyelin catabolic process	extracellular space	hydrolase activity, acting on glycosyl bonds|protein binding|sphingomyelin phosphodiesterase activity	g.chr6:123127403G>A	AK000184	CCDS5128.1, CCDS69190.1	6q22.32	2006-04-12			ENSG00000172594	ENSG00000172594			17389	protein-coding gene	gene with protein product	"acid sphingomyelinase-like phosphodiesterase 3a"	610728				12442002	Standard	XM_005266798		Approved	FLJ20177, ASM3A, ASML3a, yR36GH4.1	uc003pzg.3	Q92484	OTTHUMG00000015490	ENST00000368440.4:c.945G>A	6.37:g.123127403G>A						SMPDL3A_ENST00000539041.1_Silent_p.V184V	p.V315V	NM_006714.3	NP_006705.1	Q92484	ASM3A_HUMAN		GBM - Glioblastoma multiforme(226;0.236)	7	1122	+			315					B7Z729|Q8WV13	Silent	SNP	ENST00000368440.4	37	c.945G>A	CCDS5128.1																																																																																				0.323	SMPDL3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042039.1	NM_006714		7	32	0	0	0	0.307466	0	7	32					A	123127403	G	A	123127403	2	1	225	1	0	0	0	0	0	0	0	1	14808	1335	47	3		3	SMPDL3A	6	123127403	Silent	SNP	G	TCGA-HC-7820-01A-11D-2114-08	90866423	123127403	47987664	19	10375											
CPA5	93979	broad.mit.edu	37	chr7	129989880	129989880	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatgagagttcctttctctgAactgaaagacatcaaagctt	13	13	7	8	0	2	4	1	3	1	2	4	5	3	4	1	0	2	2	1	0	4	4			TCGA-HC-7820-01A-11D-2114-08	TCGA-HC-7820-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba24c391-5c1e-47ed-a058-142c8e1feeee	02ca7fd5-cd78-4345-bbbf-2b803c6bdc01	g.chr7:129989880A>G	ENST00000485477.1	+	4	1392	c.263A>G	c.(262-264)gAa>gGa	p.E88G	CPA5_ENST00000461828.1_Missense_Mutation_p.E88G|CPA5_ENST00000431780.2_Missense_Mutation_p.E88G|CPA5_ENST00000474905.1_Missense_Mutation_p.E88G|CPA5_ENST00000466363.2_Missense_Mutation_p.E88G|CPA5_ENST00000393213.3_Missense_Mutation_p.E88G|CPA5_ENST00000355388.3_Missense_Mutation_p.E88G			Q8WXQ8	CBPA5_HUMAN	carboxypeptidase A5	88						extracellular region (GO:0005576)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			NS(2)|breast(2)|endometrium(2)|large_intestine(7)|lung(4)|ovary(3)|pancreas(1)|skin(2)	23	Melanoma(18;0.0435)					CCTTTCTCTGAACTGAAAGAC	0.527																																						ENST00000485477.1																			0				NS(2)|breast(2)|endometrium(2)|large_intestine(7)|lung(4)|ovary(3)|pancreas(1)|skin(2)	23						c.(262-264)gAa>gGa		carboxypeptidase A5							122	123	123					7																	129989880		2203	4300	6503	SO:0001583	missense	93979				proteolysis	extracellular region	metallocarboxypeptidase activity|zinc ion binding	g.chr7:129989880A>G	AF384667	CCDS5819.1, CCDS47713.1	7q32	2008-07-18			ENSG00000158525	ENSG00000158525			15722	protein-coding gene	gene with protein product		609561				11836249	Standard	NM_080385		Approved		uc003vps.2	Q8WXQ8	OTTHUMG00000157824	ENST00000485477.1:c.263A>G	7.37:g.129989880A>G	ENSP00000420237:p.Glu88Gly					CPA5_ENST00000355388.3_Missense_Mutation_p.E88G|CPA5_ENST00000393213.3_Missense_Mutation_p.E88G|CPA5_ENST00000466363.2_Missense_Mutation_p.E88G|CPA5_ENST00000474905.1_Missense_Mutation_p.E88G|CPA5_ENST00000461828.1_Missense_Mutation_p.E88G|CPA5_ENST00000431780.2_Missense_Mutation_p.E88G	p.E88G			Q8WXQ8	CBPA5_HUMAN			4	1392	+	Melanoma(18;0.0435)		88					G3V0G8|Q6ZNI6|Q86SE2|Q86XM3|Q8NA08	Missense_Mutation	SNP	ENST00000485477.1	37	c.263A>G	CCDS5819.1	.	.	.	.	.	.	.	.	.	.	A	9.445	1.089116	0.20390	.	.	ENSG00000158525	ENST00000355388;ENST00000463587;ENST00000461828;ENST00000466363;ENST00000485477;ENST00000431780;ENST00000474905;ENST00000393213	T;T;T;T;T;T;T;T	0.14144	2.53;2.53;2.53;2.53;2.53;2.53;2.53;2.53	5.76	3.31	0.37934	Proteinase inhibitor, propeptide (1);Proteinase inhibitor, carboxypeptidase propeptide (2);	0.531074	0.17397	N	0.175697	T	0.10981	0.0268	L	0.36672	1.1	0.29566	N	0.850233	B;B	0.09022	0.002;0.001	B;B	0.12837	0.005;0.008	T	0.20638	-1.0269	9	.	.	.	.	10.0483	0.42199	0.6726:0.3274:0.0:0.0	.	88;88	G3V0G8;Q8WXQ8	.;CBPA5_HUMAN	G	88	ENSP00000347549:E88G;ENSP00000420060:E88G;ENSP00000418183:E88G;ENSP00000419025:E88G;ENSP00000420237:E88G;ENSP00000393045:E88G;ENSP00000417314:E88G;ENSP00000376907:E88G	.	E	+	2	0	CPA5	129777116	0.980000	0.34600	0.990000	0.47175	0.066000	0.16364	1.169000	0.31871	0.404000	0.25506	0.533000	0.62120	GAA		0.527	CPA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349712.1	NM_001127441		11	101	0	0	0	0.38729	0	11	101					G	129989880	A	G	129989880	3	3	225	1	0	0	0	0	1	0	0	0	3793	246	9	4	273	4	CPA5	7	129989880	Missense_Mutation	SNP	A	TCGA-HC-7820-01A-11D-2114-08		129989880	29148783	20	10376											
PRKDC	5591	broad.mit.edu	37	chr8	48739269	48739269	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agggaggcgggccttcccacGgactcgcttggcaggcagct	6	6	16	13	3	0	0	0	0	0	0	2	2	1	2	2	6	1	4	2	6	0	2			TCGA-HC-7820-01A-11D-2114-08	TCGA-HC-7820-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba24c391-5c1e-47ed-a058-142c8e1feeee	02ca7fd5-cd78-4345-bbbf-2b803c6bdc01	g.chr8:48739269G>T	ENST00000314191.2	-	64	8784	c.8728C>A	c.(8728-8730)Cgt>Agt	p.R2910S	PRKDC_ENST00000338368.3_Missense_Mutation_p.R2910S|PRKDC_ENST00000523565.1_5'UTR	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	2911	FAT. {ECO:0000255|PROSITE- ProRule:PRU00534}.|KIP-binding.				B cell lineage commitment (GO:0002326)|brain development (GO:0007420)|cellular protein modification process (GO:0006464)|cellular response to insulin stimulus (GO:0032869)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|ectopic germ cell programmed cell death (GO:0035234)|heart development (GO:0007507)|immunoglobulin V(D)J recombination (GO:0033152)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of protein phosphorylation (GO:0001933)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|pro-B cell differentiation (GO:0002328)|protein destabilization (GO:0031648)|regulation of circadian rhythm (GO:0042752)|response to gamma radiation (GO:0010332)|rhythmic process (GO:0048511)|signal transduction involved in mitotic G1 DNA damage checkpoint (GO:0072431)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell receptor V(D)J recombination (GO:0033153)|telomere maintenance (GO:0000723)	cytosol (GO:0005829)|DNA-dependent protein kinase-DNA ligase 4 complex (GO:0005958)|membrane (GO:0016020)|nonhomologous end joining complex (GO:0070419)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transcription factor binding (GO:0008134)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)			Caffeine(DB00201)	GCCTTCCCACGGACTCGCTTG	0.627								Non-homologous end-joining																													Esophageal Squamous(79;1091 1253 12329 31680 40677)	ENST00000314191.2																			0				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147						c.(8728-8730)Cgt>Agt	Non-homologous end-joining	protein kinase, DNA-activated, catalytic polypeptide							26	29	28					8																	48739269		2054	4200	6254	SO:0001583	missense	5591				cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding	g.chr8:48739269G>T		CCDS75734.1, CCDS75735.1	8q11	2014-09-17				ENSG00000253729	2.7.11.1		9413	protein-coding gene	gene with protein product		600899		HYRC, HYRC1		7638222	Standard	NM_001081640		Approved	DNPK1, p350, DNAPK, XRCC7, DNA-PKcs	uc003xqi.3	P78527		ENST00000314191.2:c.8728C>A	8.37:g.48739269G>T	ENSP00000313420:p.Arg2910Ser					PRKDC_ENST00000338368.3_Missense_Mutation_p.R2910S|PRKDC_ENST00000523565.1_5'UTR	p.R2910S	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN			64	8784	-		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)	2911			FAT.|KIP-binding.		P78528|Q13327|Q13337|Q14175|Q59H99|Q7Z611|Q96SE6|Q9UME3	Missense_Mutation	SNP	ENST00000314191.2	37	c.8728C>A		.	.	.	.	.	.	.	.	.	.	G	10.43	1.348404	0.24426	.	.	ENSG00000253729	ENST00000314191;ENST00000338368	T;T	0.03004	4.15;4.08	5.7	3.88	0.44766	PIK-related kinase (1);	0.159083	0.42682	D	0.000668	T	0.06781	0.0173	M	0.75264	2.295	0.48087	D	0.99958	P;B	0.39862	0.692;0.08	B;B	0.38458	0.274;0.023	T	0.34354	-0.9832	10	0.20519	T	0.43	.	13.9289	0.63981	0.0:0.0:0.6012:0.3988	.	2910;2911	E7EUY0;P78527	.;PRKDC_HUMAN	S	2910	ENSP00000313420:R2910S;ENSP00000345182:R2910S	ENSP00000313420:R2910S	R	-	1	0	PRKDC	48901822	1.000000	0.71417	0.012000	0.15200	0.144000	0.21451	4.366000	0.59492	0.727000	0.32360	0.655000	0.94253	CGT		0.627	PRKDC-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001081640		6	26	1	0	0.0381472	0.27861	0.0433831	6	26					T	48739269	G	T	48739269	3	4	225	1	0	0	0	0	1	0	0	0	12521	1116	39	5	3751	5	PRKDC	8	48739269	Missense_Mutation	SNP	G	TCGA-HC-7820-01A-11D-2114-08		48739269	97624753	21	10377											
PXDNL	137902	broad.mit.edu	37	chr8	52359596	52359596	+	Frame_Shift_Del	DEL	T	T	-																															cagtcagctgcacagacaccTttttcacccccaacgaactg																										TCGA-HC-7820-01A-11D-2114-08	TCGA-HC-7820-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba24c391-5c1e-47ed-a058-142c8e1feeee	02ca7fd5-cd78-4345-bbbf-2b803c6bdc01	g.chr8:52359596delT	ENST00000356297.4	-	12	1593	c.1493delA	c.(1492-1494)aagfs	p.K498fs	PXDNL_ENST00000543296.1_Frame_Shift_Del_p.K498fs	NM_144651.4	NP_653252	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	498	Ig-like C2-type 3.				hydrogen peroxide catabolic process (GO:0042744)|oxidation-reduction process (GO:0055114)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	endonuclease activity (GO:0004519)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				CACAGACACCTTTTTCACCCC	0.448																																						ENST00000356297.4																			0				NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48						c.(1492-1494)agfs		peroxidasin homolog (Drosophila)-like							169	167	167					8																	52359596		2017	4175	6192	SO:0001589	frameshift_variant	137902				hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity	g.chr8:52359596delT		CCDS47855.1	8q11.21-q11.22	2013-02-18	2007-01-12		ENSG00000147485	ENSG00000147485		"Immunoglobulin superfamily / I-set domain containing"	26359	protein-coding gene	gene with protein product	"polysomal ribonuclease 1 homolog (Xenopus)"	615904	"peroxidasin homolog-like (Drosophila)"			22543864	Standard	NM_144651		Approved	FLJ25471, PMR1	uc003xqu.4	A1KZ92	OTTHUMG00000164244	ENST00000356297.4:c.1493delA	8.37:g.52359596delT	ENSP00000348645:p.Lys498fs					PXDNL_ENST00000543296.1_Frame_Shift_Del_p.K498fs	p.K498fs	NM_144651.4	NP_653252.3	A1KZ92	PXDNL_HUMAN			12	1593	-		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)	498			Ig-like C2-type 3.		B5ME43|B6CGZ3|H0YBM9|Q6ZMR2|Q96LH9	Frame_Shift_Del	DEL	ENST00000356297.4	37	c.1493delA	CCDS47855.1																																																																																				0.448	PXDNL-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377905.1	NM_144651		8	241						8	241	---	---	---	---	-	52359596	T	-	52359596	7	5	225	1	0	1	0	1	0	0	0	0	12848	1609	56	0	2946	0	PXDNL	8	52359596	Frame_Shift_Del	DEL	T	TCGA-HC-7820-01A-11D-2114-08	3620327	52359596	94004426	22	10378											
ZNF33B	7582	broad.mit.edu	37	chr10	43088476	43088476	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcagaaagcttttccacacTcattacattcatagggtttc	11	13	7	10	0	2	1	2	0	0	1	4	1	3	1	1	2	2	3	1	2	3	6			TCGA-HC-7820-01A-11D-2114-08	TCGA-HC-7820-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba24c391-5c1e-47ed-a058-142c8e1feeee	02ca7fd5-cd78-4345-bbbf-2b803c6bdc01	g.chr10:43088476T>A	ENST00000359467.3	-	5	2036	c.1922A>T	c.(1921-1923)gAg>gTg	p.E641V	ZNF33B_ENST00000486187.1_RNA	NM_006955.1	NP_008886.1	Q06732	ZN33B_HUMAN	zinc finger protein 33B	641					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(15)|skin(1)|stomach(1)	29						TTTTCCACACTCATTACATTC	0.388																																					Melanoma(137;1247 1767 16772 25727 43810)	ENST00000359467.3																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(15)|skin(1)|stomach(1)	29						c.(1921-1923)gAg>gTg		zinc finger protein 33B							114	117	116					10																	43088476		2203	4300	6503	SO:0001583	missense	7582					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr10:43088476T>A	X68688, AJ491697	CCDS7198.1	10q11.2	2013-01-08	2005-03-18		ENSG00000196693	ENSG00000196693		"Zinc fingers, C2H2-type", "-"	13097	protein-coding gene	gene with protein product		194522	"zinc finger protein 33b (KOX 31)", "zinc finger protein 11B"	ZNF11B		2014798	Standard	NM_006955		Approved	KOX31, KOX2	uc001jaf.1	Q06732	OTTHUMG00000018014	ENST00000359467.3:c.1922A>T	10.37:g.43088476T>A	ENSP00000352444:p.Glu641Val					ZNF33B_ENST00000486187.1_RNA	p.E641V	NM_006955.1	NP_008886.1	Q06732	ZN33B_HUMAN			5	2036	-			641					Q06731|Q32MA2|Q86XY8|Q8NDW3	Missense_Mutation	SNP	ENST00000359467.3	37	c.1922A>T	CCDS7198.1	.	.	.	.	.	.	.	.	.	.	T	12.59	1.984433	0.35036	.	.	ENSG00000196693	ENST00000359467;ENST00000395836	T	0.37915	1.17	2.69	1.48	0.22813	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.234181	0.21823	N	0.068594	T	0.16811	0.0404	N	0.05124	-0.11	0.09310	N	1	B	0.31519	0.327	B	0.32928	0.155	T	0.15263	-1.0443	10	0.54805	T	0.06	.	7.2489	0.26138	0.0:0.0:0.2259:0.774	.	641	Q06732	ZN33B_HUMAN	V	641;607	ENSP00000352444:E641V	ENSP00000352444:E641V	E	-	2	0	ZNF33B	42408482	0.001000	0.12720	0.901000	0.35422	0.958000	0.62258	0.927000	0.28818	0.427000	0.26145	0.336000	0.21669	GAG		0.388	ZNF33B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_006955		4	107	0	0	0	0.217242	0	4	107					A	43088476	T	A	43088476	3	1	225	1	0	0	0	0	1	0	0	0	17852	1551	54	5	418	5	ZNF33B	10	43088476	Missense_Mutation	SNP	T	TCGA-HC-7820-01A-11D-2114-08		43088476	92446271	23	10379											
MYST4	23522	broad.mit.edu	37	chr10	76735743	76735743	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tctttgatgggctttctcatAtctataccactcagggacag	9	14	8	10	0	4	1	2	1	3	0	5	2	4	2	1	2	1	1	1	2	3	5	rs543814514		TCGA-HC-7820-01A-11D-2114-08	TCGA-HC-7820-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba24c391-5c1e-47ed-a058-142c8e1feeee	02ca7fd5-cd78-4345-bbbf-2b803c6bdc01	g.chr10:76735743A>T	ENST00000287239.4	+	8	2137	c.1648A>T	c.(1648-1650)Atc>Ttc	p.I550F	KAT6B_ENST00000372724.1_Intron|KAT6B_ENST00000372711.1_Intron|KAT6B_ENST00000372714.1_Intron|KAT6B_ENST00000372725.1_Intron	NM_001256468.1|NM_012330.3	NP_001243397.1|NP_036462.2	Q8WYB5	KAT6B_HUMAN	K(lysine) acetyltransferase 6B	550	Negatively regulates HAT activity.				chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone H3 acetylation (GO:0043966)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	acetyltransferase activity (GO:0016407)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)										GCTTTCTCATATCTATACCAC	0.512																																						ENST00000287239.4																			0											c.(1648-1650)Atc>Ttc		K(lysine) acetyltransferase 6B							101	90	94					10																	76735743		2203	4300	6503	SO:0001583	missense	23522				histone H3 acetylation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription factor binding|zinc ion binding	g.chr10:76735743A>T	AF113514	CCDS7345.1, CCDS58084.1, CCDS58085.1	10q22.2	2013-01-28	2011-07-21	2011-07-21	ENSG00000156650	ENSG00000156650		"Chromatin-modifying enzymes / K-acetyltransferases", "Zinc fingers, C2HC-type containing", "Zinc fingers, PHD-type"	17582	protein-coding gene	gene with protein product	"MOZ-related factor"	605880	"MYST histone acetyltransferase (monocytic leukemia) 4"	MYST4		9205841, 10497217	Standard	NM_012330		Approved	querkopf, qkf, Morf, MOZ2, ZC2HC6B	uc001jwn.2	Q8WYB5	OTTHUMG00000018509	ENST00000287239.4:c.1648A>T	10.37:g.76735743A>T	ENSP00000287239:p.Ile550Phe					KAT6B_ENST00000372724.1_Intron|KAT6B_ENST00000372711.1_Intron|KAT6B_ENST00000372714.1_Intron|KAT6B_ENST00000372725.1_Intron	p.I550F	NM_001256468.1|NM_012330.3	NP_001243397.1|NP_036462.2	Q8WYB5	MYST4_HUMAN			8	2137	+			550			Negatively regulates HAT activity.		O15087|Q86Y05|Q8WU81|Q9UKW2|Q9UKW3|Q9UKX0	Missense_Mutation	SNP	ENST00000287239.4	37	c.1648A>T	CCDS7345.1	.	.	.	.	.	.	.	.	.	.	A	14.19	2.461197	0.43736	.	.	ENSG00000156650	ENST00000287239	T	0.61510	0.1	6.08	6.08	0.98989	.	0.139910	0.32204	N	0.006429	T	0.50854	0.1640	N	0.19112	0.55	0.80722	D	1	D	0.53885	0.963	P	0.49012	0.598	T	0.48581	-0.9023	9	.	.	.	-3.372	15.214	0.73250	1.0:0.0:0.0:0.0	.	550	Q8WYB5	KAT6B_HUMAN	F	550	ENSP00000287239:I550F	.	I	+	1	0	KAT6B	76405749	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.564000	0.90726	2.330000	0.79161	0.533000	0.62120	ATC		0.512	KAT6B-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048771.1	NM_012330		9	59	0	0	0	0.38729	0	9	59					T	76735743	A	T	76735743	3	4	225	1	0	0	0	0	1	0	0	0	10105	449	16	5	1670	5	MYST4	10	76735743	Missense_Mutation	SNP	A	TCGA-HC-7820-01A-11D-2114-08	33647267	76735743	58799004	24	10380											
NLRP10	338322	broad.mit.edu	37	chr11	7982031	7982031	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcagtgctgtttctaggtgtCtctaagacaactttgcctct	7	16	8	10	0	4	1	1	0	3	1	5	1	4	1	1	1	3	2	1	1	3	4	rs74451065	byFrequency	TCGA-HC-7820-01A-11D-2114-08	TCGA-HC-7820-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba24c391-5c1e-47ed-a058-142c8e1feeee	02ca7fd5-cd78-4345-bbbf-2b803c6bdc01	g.chr11:7982031C>A	ENST00000328600.2	-	2	1289	c.1128G>T	c.(1126-1128)gaG>gaT	p.E376D		NM_176821.3	NP_789791.1	Q86W26	NAL10_HUMAN	NLR family, pyrin domain containing 10	376	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				defense response to fungus (GO:0050832)|defense response to Gram-negative bacterium (GO:0050829)|dendritic cell migration (GO:0036336)|helper T cell enhancement of adaptive immune response (GO:0035397)|innate immune response (GO:0045087)|positive regulation of interleukin-6 secretion (GO:2000778)|positive regulation of interleukin-8 secretion (GO:2000484)|positive regulation of T-helper 1 type immune response (GO:0002827)|positive regulation of T-helper 17 type immune response (GO:2000318)	cytoplasm (GO:0005737)|extrinsic component of plasma membrane (GO:0019897)	ATP binding (GO:0005524)			breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		TTCTAGGTGTCTCTAAGACAA	0.547																																						ENST00000328600.2																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						c.(1126-1128)gaG>gaT		NLR family, pyrin domain containing 10							93	67	76					11																	7982031		2201	4296	6497	SO:0001583	missense	338322						ATP binding	g.chr11:7982031C>A	AY154465	CCDS7784.1	11p15.4	2006-12-08	2006-12-08	2006-12-08		ENSG00000182261		"Nucleotide-binding domain and leucine rich repeat containing"	21464	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 10"	609662	"NACHT, leucine rich repeat and PYD containing 10"	NALP10		12563287	Standard	NM_176821		Approved	NOD8, PAN5, Pynod, CLR11.1	uc001mfv.1	Q86W26		ENST00000328600.2:c.1128G>T	11.37:g.7982031C>A	ENSP00000327763:p.Glu376Asp						p.E376D	NM_176821.3	NP_789791.1	Q86W26	NAL10_HUMAN		Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)	2	1289	-			376			NACHT.		Q2M3C4|Q6JGT0	Missense_Mutation	SNP	ENST00000328600.2	37	c.1128G>T	CCDS7784.1	.	.	.	.	.	.	.	.	.	.	C	6.684	0.494896	0.12702	.	.	ENSG00000182261	ENST00000328600	T	0.81163	-1.46	5.05	0.639	0.17747	.	0.190876	0.25869	N	0.027768	T	0.65428	0.2690	L	0.38531	1.155	0.09310	N	1	B	0.15141	0.012	B	0.13407	0.009	T	0.47935	-0.9078	10	0.25106	T	0.35	.	5.3467	0.16014	0.0:0.4404:0.3693:0.1902	.	376	Q86W26	NAL10_HUMAN	D	376	ENSP00000327763:E376D	ENSP00000327763:E376D	E	-	3	2	NLRP10	7938607	0.000000	0.05858	0.013000	0.15412	0.004000	0.04260	-0.630000	0.05502	0.232000	0.21100	0.655000	0.94253	GAG		0.547	NLRP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385705.1	NM_176821		10	26	1	0	1.76689e-08	0.335167	2.18042e-08	10	26					A	7982031	C	A	7982031	3	1	225	1	0	0	0	0	1	0	0	0	10472	912	32	5	843	5	NLRP10	11	7982031	Missense_Mutation	SNP	C	TCGA-HC-7820-01A-11D-2114-08		7982031	127024485	25	10381											
RAG1	5896	broad.mit.edu	37	chr11	36596041	36596041	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taataaagggggccggccccGccaacatcttctgtcgctga	9	8	11	13	3	2	1	0	1	2	0	3	1	2	1	4	3	1	1	4	3	4	3	rs104894291		TCGA-HC-7820-01A-11D-2114-08	TCGA-HC-7820-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba24c391-5c1e-47ed-a058-142c8e1feeee	02ca7fd5-cd78-4345-bbbf-2b803c6bdc01	g.chr11:36596041G>A	ENST00000299440.5	+	2	1299	c.1187G>A	c.(1186-1188)cGc>cAc	p.R396H		NM_000448.2	NP_000439	P15918	RAG1_HUMAN	recombination activating gene 1	396			R -> C (in OS; dbSNP:rs104894289). {ECO:0000269|PubMed:10606976, ECO:0000269|PubMed:9630231}.|R -> H (in OS; dbSNP:rs104894291). {ECO:0000269|PubMed:19912631, ECO:0000269|PubMed:9630231}.|R -> L (in OS; dbSNP:rs104894291). {ECO:0000269|PubMed:11133745}.		adaptive immune response (GO:0002250)|B cell differentiation (GO:0030183)|DNA recombination (GO:0006310)|histone monoubiquitination (GO:0010390)|immune response (GO:0006955)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of thymocyte apoptotic process (GO:0070244)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|pre-B cell allelic exclusion (GO:0002331)|protein autoubiquitination (GO:0051865)|regulation of T cell differentiation (GO:0045580)|T cell differentiation in thymus (GO:0033077)|T cell homeostasis (GO:0043029)|thymus development (GO:0048538)|V(D)J recombination (GO:0033151)	nucleus (GO:0005634)	acid-amino acid ligase activity (GO:0016881)|DNA binding (GO:0003677)|endonuclease activity (GO:0004519)|histone binding (GO:0042393)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding (GO:0043565)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.R396H(1)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	65	all_lung(20;0.226)	all_hematologic(20;0.107)				GGCCGGCCCCGCCAACATCTT	0.478									Familial Hemophagocytic Lymphohistiocytosis																												Pancreas(43;321 1249 3212 48200)|Esophageal Squamous(38;49 1003 17530 24363)	ENST00000299440.5																			1	Substitution - Missense(1)	p.R396H(1)	large_intestine(1)	NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	65	GRCh37	CM010067|CM981691	RAG1	M	rs104894291	c.(1186-1188)cGc>cAc		recombination activating gene 1		G	HIS/ARG	0,4404		0,0,2202	40	47	45	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	1187	5.6	1	11	dbSNP_132	45	2,8594	2.2+/-6.3	0,2,4296	yes	missense	RAG1	NM_000448.2	29	0,2,6498	AA,AG,GG		0.0233,0.0,0.0154	possibly-damaging	396/1044	36596041	2,12998	2202	4298	6500	SO:0001583	missense	5896	Familial Hemophagocytic Lymphohistiocytosis	Familial Cancer Database	FHLH, FHL, Familial Hemophagocytic Reticulosis, FHR	histone monoubiquitination|immune response|pre-B cell allelic exclusion|protein autoubiquitination|T cell differentiation in thymus|V(D)J recombination	nucleus	endonuclease activity|histone binding|protein homodimerization activity|sequence-specific DNA binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr11:36596041G>A	M29474	CCDS7902.1	11p13	2014-09-17				ENSG00000166349		"RING-type (C3HC4) zinc fingers"	9831	protein-coding gene	gene with protein product	"recombination activating protein 1", "RING finger protein 74", "V(D)J recombination-activating protein 1"	179615				1612612, 1283330	Standard	NM_000448		Approved	RNF74, MGC43321	uc001mwu.4	P15918		ENST00000299440.5:c.1187G>A	11.37:g.36596041G>A	ENSP00000299440:p.Arg396His						p.R396H	NM_000448.2	NP_000439.1	P15918	RAG1_HUMAN			2	1299	+	all_lung(20;0.226)	all_hematologic(20;0.107)	396		R -> C (in OS).|R -> H (in OS).|R -> L (in OS).			E9PPC4|Q8IY72|Q8NER2	Missense_Mutation	SNP	ENST00000299440.5	37	c.1187G>A	CCDS7902.1	.	.	.	.	.	.	.	.	.	.	G	24.8	4.570436	0.86542	0.0	2.33E-4	ENSG00000166349	ENST00000534663;ENST00000299440	T;T	0.73681	-0.77;-0.76	5.64	5.64	0.86602	RAG nonamer-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.87561	0.6208	M	0.81239	2.535	0.80722	A	1	D	0.76494	0.999	D	0.76575	0.988	D	0.88462	0.3056	9	0.87932	D	0	.	19.7762	0.96393	0.0:0.0:1.0:0.0	.	396	P15918	RAG1_HUMAN	H	396	ENSP00000434610:R396H;ENSP00000299440:R396H	ENSP00000299440:R396H	R	+	2	0	RAG1	36552617	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	9.476000	0.97823	2.684000	0.91462	0.650000	0.86243	CGC		0.478	RAG1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389535.1	NM_000448		3	66	0	0	0	0.115264	0	3	66					A	36596041	G	A	36596041	3	1	225	1	0	0	0	0	1	0	0	0	13003	1087	38	1	1189	1	RAG1	11	36596041	Missense_Mutation	SNP	G	TCGA-HC-7820-01A-11D-2114-08	28614010	36596041	98410475	26	10382											
SCGB1A1	7356	broad.mit.edu	37	chr11	62189705	62189705	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgttgcagcttctgcagagaTctgcccgagctttcagcgtg	6	12	12	11	2	3	1	1	0	2	1	3	3	3	1	1	0	6	5	1	0	0	3			TCGA-HC-7820-01A-11D-2114-08	TCGA-HC-7820-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba24c391-5c1e-47ed-a058-142c8e1feeee	02ca7fd5-cd78-4345-bbbf-2b803c6bdc01	g.chr11:62189705T>C	ENST00000278282.2	+	2	129	c.68T>C	c.(67-69)aTc>aCc	p.I23T	CTD-2531D15.4_ENST00000528983.1_RNA|SCGB1A1_ENST00000534397.1_5'UTR	NM_003357.4	NP_003348.1	P11684	UTER_HUMAN	secretoglobin, family 1A, member 1 (uteroglobin)	23					embryo implantation (GO:0007566)|female pregnancy (GO:0007565)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-13 production (GO:0032696)|negative regulation of interleukin-4 production (GO:0032713)|negative regulation of interleukin-5 production (GO:0032714)|negative regulation of T cell proliferation (GO:0042130)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of inflammatory response (GO:0050727)|regulation of mRNA stability (GO:0043488)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to fibroblast growth factor (GO:0071774)|response to glucocorticoid (GO:0051384)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to silicon dioxide (GO:0034021)|response to xenobiotic stimulus (GO:0009410)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nuclear envelope (GO:0005635)|rough endoplasmic reticulum (GO:0005791)|secretory granule (GO:0030141)	phospholipase A2 inhibitor activity (GO:0019834)			lung(1)	1						TCTGCAGAGATCTGCCCGAGC	0.557																																						ENST00000278282.2																			0				lung(1)	1						c.(67-69)aTc>aCc		secretoglobin, family 1A, member 1 (uteroglobin)							93	84	87					11																	62189705		2202	4299	6501	SO:0001583	missense	7356				embryo implantation|signal transduction	extracellular region	binding|phospholipase A2 inhibitor activity	g.chr11:62189705T>C		CCDS8020.1	11q12.3	2011-12-14	2002-03-22	2002-03-22	ENSG00000149021	ENSG00000149021		"Secretoglobins"	12523	protein-coding gene	gene with protein product	"Uteroglobin (Clara-cell specific 10-kD protein)"	192020	"uteroglobin"	UGB		1284526, 22155607	Standard	NM_003357		Approved	CC10, CCSP, CC16	uc001ntj.3	P11684	OTTHUMG00000167526	ENST00000278282.2:c.68T>C	11.37:g.62189705T>C	ENSP00000278282:p.Ile23Thr					CTD-2531D15.4_ENST00000528983.1_RNA|SCGB1A1_ENST00000534397.1_5'UTR	p.I23T	NM_003357.4	NP_003348.1	P11684	UTER_HUMAN			2	129	+			23					B2R5F2|Q6FHH3|Q9UCM2|Q9UCM4	Missense_Mutation	SNP	ENST00000278282.2	37	c.68T>C	CCDS8020.1	.	.	.	.	.	.	.	.	.	.	T	11.64	1.697810	0.30142	.	.	ENSG00000149021	ENST00000278282	T	0.25085	1.82	4.73	3.6	0.41247	.	0.634499	0.13798	N	0.362043	T	0.17023	0.0409	.	.	.	0.26668	N	0.97177	B	0.18013	0.025	B	0.18263	0.021	T	0.18903	-1.0322	9	0.34782	T	0.22	-14.9	7.312	0.26479	0.0:0.1018:0.0:0.8982	.	23	P11684	UTER_HUMAN	T	23	ENSP00000278282:I23T	ENSP00000278282:I23T	I	+	2	0	SCGB1A1	61946281	0.006000	0.16342	0.387000	0.26183	0.018000	0.09664	-0.227000	0.09126	0.780000	0.33566	0.460000	0.39030	ATC		0.557	SCGB1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394925.1	NM_003357		3	65	0	0	0	0.217242	0	3	65					C	62189705	T	C	62189705	3	2	225	1	0	0	0	0	1	0	0	0	13894	1435	50	4	74	4	SCGB1A1	11	62189705	Missense_Mutation	SNP	T	TCGA-HC-7820-01A-11D-2114-08	25593664	62189705	72816811	27	10383											
FLI1	2313	broad.mit.edu	37	chr11	128680431	128680431	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	acgccagctgtatcacctggGaggggaccaacggggagttc	9	6	15	11	2	1	0	1	0	0	0	2	3	1	3	3	5	2	3	3	5	2	2			TCGA-HC-7820-01A-11D-2114-08	TCGA-HC-7820-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba24c391-5c1e-47ed-a058-142c8e1feeee	02ca7fd5-cd78-4345-bbbf-2b803c6bdc01	g.chr11:128680431G>A	ENST00000527786.2	+	9	1396	c.907G>A	c.(907-909)Gag>Aag	p.E303K	FLI1_ENST00000344954.6_Missense_Mutation_p.E270K|FLI1_ENST00000534087.2_Missense_Mutation_p.E270K|FLI1_ENST00000525560.1_Missense_Mutation_p.E110K|FLI1_ENST00000281428.8_Missense_Mutation_p.E237K	NM_001271010.1|NM_002017.4	NP_001257939.1|NP_002008.2	Q01543	FLI1_HUMAN	Fli-1 proto-oncogene, ETS transcription factor	303					blood circulation (GO:0008015)|cell differentiation (GO:0030154)|hemostasis (GO:0007599)|megakaryocyte development (GO:0035855)|organ morphogenesis (GO:0009887)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)		EWSR1/FLI1(2569)	NS(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(2)	31	all_hematologic(175;0.0641)	Lung NSC(97;0.00588)|all_lung(97;0.00764)|Breast(109;0.0115)|Medulloblastoma(222;0.0523)|all_neural(223;0.0862)|all_hematologic(192;0.182)		OV - Ovarian serous cystadenocarcinoma(99;0.01)|LUSC - Lung squamous cell carcinoma(976;0.0324)|Lung(977;0.0327)		TATCACCTGGGAGGGGACCAA	0.617			T	EWSR1	Ewing sarcoma																																	ENST00000344954.6				Dom	yes		11	11q24	2313	T	Friend leukemia virus integration 1			M	EWSR1		Ewing sarcoma	EWSR1/FLI1(2569)	0				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(2)	31						c.(808-810)Gag>Aag		Fli-1 proto-oncogene, ETS transcription factor							19	22	21					11																	128680431		2186	4293	6479	SO:0001583	missense	2313				hemostasis|organ morphogenesis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr11:128680431G>A	M98833	CCDS44768.1, CCDS53725.1, CCDS59230.1, CCDS59231.1	11q24.1-q24.3	2014-09-17	2013-08-07		ENSG00000151702	ENSG00000151702			3749	protein-coding gene	gene with protein product		193067	"Friend leukemia virus integration 1"			1765382	Standard	NM_001167681		Approved	SIC-1, EWSR2	uc010sbu.2	Q01543	OTTHUMG00000165792	ENST00000527786.2:c.907G>A	11.37:g.128680431G>A	ENSP00000433488:p.Glu303Lys					FLI1_ENST00000534087.1_Missense_Mutation_p.E270K|FLI1_ENST00000429175.2_Missense_Mutation_p.E303K|FLI1_ENST00000525560.1_Missense_Mutation_p.E110K|FLI1_ENST00000281428.8_Missense_Mutation_p.E237K	p.E270K			Q01543	FLI1_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.01)|LUSC - Lung squamous cell carcinoma(976;0.0324)|Lung(977;0.0327)	9	1196	+	all_hematologic(175;0.0641)	Lung NSC(97;0.00588)|all_lung(97;0.00764)|Breast(109;0.0115)|Medulloblastoma(222;0.0523)|all_neural(223;0.0862)|all_hematologic(192;0.182)	303					B2R8H2|B4DFV4|B4DTC6|G3V183|Q14319|Q92480|Q9UE07	Missense_Mutation	SNP	ENST00000527786.2	37	c.808G>A	CCDS44768.1	.	.	.	.	.	.	.	.	.	.	G	29.1	4.977028	0.92982	.	.	ENSG00000151702	ENST00000525560;ENST00000344954;ENST00000429175;ENST00000534087;ENST00000281428	T;T;T;T;T	0.55588	0.51;0.51;0.51;0.51;0.51	5.63	5.63	0.86233	Winged helix-turn-helix transcription repressor DNA-binding (1);Ets (3);	0.216108	0.47852	D	0.000201	T	0.75236	0.3822	M	0.78344	2.41	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.986	D;D;D	0.91635	0.997;0.999;0.911	T	0.77517	-0.2558	10	0.87932	D	0	.	19.6722	0.95915	0.0:0.0:1.0:0.0	.	303;110;237	Q01543;B4DFV4;Q01543-2	FLI1_HUMAN;.;.	K	110;270;303;270;237	ENSP00000437124:E110K;ENSP00000339627:E270K;ENSP00000399985:E303K;ENSP00000432950:E270K;ENSP00000281428:E237K	ENSP00000281428:E237K	E	+	1	0	FLI1	128185641	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.656000	0.90262	0.585000	0.79938	GAG		0.617	FLI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386226.2	NM_002017		3	9	0	0	0	0.115264	0	3	9					A	128680431	G	A	128680431	3	1	225	1	0	0	0	0	1	0	0	0	5924	1175	41	3	941	3	FLI1	11	128680431	Missense_Mutation	SNP	G	TCGA-HC-7820-01A-11D-2114-08	66490726	128680431	6326085	28	10384											
PRB3	5544	broad.mit.edu	37	chr12	11420458	11420458	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtccttctggctttcctggaCgaggtgggggaccttgaggt	4	12	16	9	1	1	1	0	1	1	0	3	4	3	3	3	6	0	1	3	6	0	3	rs28435564	byFrequency	TCGA-HC-7820-01A-11D-2114-08	TCGA-HC-7820-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba24c391-5c1e-47ed-a058-142c8e1feeee	24bd416b-e5e7-4f84-bf13-71ba28824b97	g.chr12:11420458C>G	ENST00000279573.7	-	3	860	c.725G>C	c.(724-726)cGt>cCt	p.R242P	PRB3_ENST00000381842.3_Intron|PRB3_ENST00000440870.3_Intron|PRB3_ENST00000538488.1_Intron			Q04118	PRB3_HUMAN	proline-rich protein BstNI subfamily 3	179	10 X 21 AA tandem repeats of [RH]-P-G-K- P-[EQ]-G-[PQS]-P-[PS]-Q-[GE]-G-N-[QK]- [SP]-[QR]-[GR]-P-P-P.|Pro-rich.				defense response to Gram-negative bacterium (GO:0050829)	extracellular region (GO:0005576)				breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(5)	25			OV - Ovarian serous cystadenocarcinoma(49;0.201)			CTTTCCTGGACGAGGTGGGGG	0.612																																						ENST00000381842.3																			0				breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(5)	25								proline-rich protein BstNI subfamily 3							9	4	6					12																	11420458		1057	1581	2638	SO:0001583	missense	5544					extracellular region	Gram-negative bacterial cell surface binding	g.chr12:11420458C>G			12p13.2	2012-10-02				ENSG00000197870			9339	protein-coding gene	gene with protein product		168840				1894623	Standard	NM_006249		Approved	PRG	uc001qzs.3	Q04118		ENST00000279573.7:c.725G>C	12.37:g.11420458C>G	ENSP00000279573:p.Arg242Pro					PRB3_ENST00000279573.6_RNA|PRB3_ENST00000440870.3_RNA|PRB3_ENST00000538488.1_RNA		NM_006249.4	NP_006240.4	Q04118	PRB3_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;0.201)		0	642	-								Q15188|Q4VAY3|Q4VAY4|Q7M4M9|Q9UCT9	RNA	SNP	ENST00000279573.7	37																																																																																						0.612	PRB3-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000402119.5	NM_006249		3	25	0	0	0	0.115264	0	3	25					G	11420458	C	G	11420458	3	3	225	1	0	0	0	0	1	0	0	0	12444	550	19	5	212	5	PRB3	12	11420458	Missense_Mutation	SNP	C	TCGA-HC-7820-01A-11D-2114-08		11420458	122431437	29	10385											
SCYL2	55681	broad.mit.edu	37	chr12	100706228	100706228	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agcctaaatttccttgtaaaGaatgggacccaaatttacct	14	12	6	9	0	0	1	0	0	0	1	1	2	1	2	4	1	2	1	4	1	7	6			TCGA-HC-7820-01A-11D-2114-08	TCGA-HC-7820-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba24c391-5c1e-47ed-a058-142c8e1feeee	02ca7fd5-cd78-4345-bbbf-2b803c6bdc01	g.chr12:100706228G>C	ENST00000360820.2	+	6	1086	c.649G>C	c.(649-651)Gaa>Caa	p.E217Q		NM_017988.4	NP_060458.3	Q6P3W7	SCYL2_HUMAN	SCY1-like 2 (S. cerevisiae)	217	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				endosome to lysosome transport (GO:0008333)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of clathrin-mediated endocytosis (GO:2000370)|positive regulation of receptor internalization (GO:0002092)|receptor internalization involved in canonical Wnt signaling pathway (GO:2000286)	cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|receptor binding (GO:0005102)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(4)|lung(15)|ovary(2)|skin(1)	41						TCCTTGTAAAGAATGGGACCC	0.343																																						ENST00000360820.2																			0				central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(4)|lung(15)|ovary(2)|skin(1)	41						c.(649-651)Gaa>Caa		SCY1-like 2 (S. cerevisiae)							77	74	75					12																	100706228		2202	4300	6502	SO:0001583	missense	55681				endosome to lysosome transport|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of clathrin-mediated endocytosis|positive regulation of receptor internalization	clathrin-coated vesicle|endosome membrane|Golgi apparatus|perinuclear region of cytoplasm	ATP binding|protein kinase activity|receptor binding	g.chr12:100706228G>C	AB037781	CCDS9076.1	12q23.1	2005-01-20				ENSG00000136021			19286	protein-coding gene	gene with protein product						10718198	Standard	NM_017988		Approved	KIAA1360	uc001thn.3	Q6P3W7	OTTHUMG00000170319	ENST00000360820.2:c.649G>C	12.37:g.100706228G>C	ENSP00000354061:p.Glu217Gln						p.E217Q	NM_017988.4	NP_060458.3	Q6P3W7	SCYL2_HUMAN			6	1086	+			217			Protein kinase.		A8KAB5|Q96EF4|Q96ST4|Q9H7V5|Q9NVH3|Q9P2I7	Missense_Mutation	SNP	ENST00000360820.2	37	c.649G>C	CCDS9076.1	.	.	.	.	.	.	.	.	.	.	G	29.6	5.016413	0.93404	.	.	ENSG00000136021	ENST00000549687;ENST00000548392;ENST00000258506;ENST00000360820	T;T	0.66099	-0.19;-0.19	5.73	5.73	0.89815	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.73040	0.3536	L	0.47716	1.5	0.80722	D	1	D	0.63880	0.993	D	0.67900	0.954	T	0.65463	-0.6162	10	0.20046	T	0.44	.	19.9133	0.97031	0.0:0.0:1.0:0.0	.	217	Q6P3W7	SCYL2_HUMAN	Q	217;44;44;217	ENSP00000448366:E217Q;ENSP00000354061:E217Q	ENSP00000258506:E44Q	E	+	1	0	SCYL2	99230359	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.624000	0.98398	2.721000	0.93114	0.655000	0.94253	GAA		0.343	SCYL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408493.2	NM_017988		3	41	0	0	0	0.115264	0	3	41					C	100706228	G	C	100706228	3	2	225	1	0	0	0	0	1	0	0	0	13948	943	33	5	667	5	SCYL2	12	100706228	Missense_Mutation	SNP	G	TCGA-HC-7820-01A-11D-2114-08	89285770	100706228	33145667	30	10386											
DTX1	1840	broad.mit.edu	37	chr12	113532986	113532986	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccagaccatccgcatcgtctAtgacatccccacaggcatcc	10	7	6	18	2	1	2	0	1	1	1	5	2	4	2	6	1	0	2	6	1	1	1			TCGA-HC-7820-01A-11D-2114-08	TCGA-HC-7820-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba24c391-5c1e-47ed-a058-142c8e1feeee	02ca7fd5-cd78-4345-bbbf-2b803c6bdc01	g.chr12:113532986A>G	ENST00000257600.3	+	7	2029	c.1526A>G	c.(1525-1527)tAt>tGt	p.Y509C	DTX1_ENST00000547974.1_3'UTR	NM_004416.2	NP_004407.2	Q86Y01	DTX1_HUMAN	deltex 1, E3 ubiquitin ligase	509					cell surface receptor signaling pathway (GO:0007166)|glial cell differentiation (GO:0010001)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of T cell differentiation (GO:0045581)|Notch signaling pathway (GO:0007219)|protein ubiquitination (GO:0016567)|regulation of Notch signaling pathway (GO:0008593)|regulation of RNA biosynthetic process (GO:2001141)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ligase activity (GO:0016874)|Notch binding (GO:0005112)|transcription coactivator activity (GO:0003713)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	32						CGCATCGTCTATGACATCCCC	0.652																																						ENST00000257600.3																			0				central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	32						c.(1525-1527)tAt>tGt		deltex homolog 1 (Drosophila)							106	105	105					12																	113532986		2203	4300	6503	SO:0001583	missense	1840				negative regulation of neuron differentiation|Notch signaling pathway|regulation of Notch signaling pathway|transcription from RNA polymerase II promoter	cytoplasm|nucleus	Notch binding|SH3 domain binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding	g.chr12:113532986A>G	AF053700	CCDS9164.1	12q24	2014-01-28	2014-01-28			ENSG00000135144			3060	protein-coding gene	gene with protein product		602582	"deltex homolog 1 (Drosophila)"			9590294, 12670957	Standard	NM_004416		Approved	hDx-1	uc001tuk.1	Q86Y01	OTTHUMG00000169610	ENST00000257600.3:c.1526A>G	12.37:g.113532986A>G	ENSP00000257600:p.Tyr509Cys					DTX1_ENST00000547974.1_3'UTR	p.Y509C	NM_004416.2	NP_004407.2	Q86Y01	DTX1_HUMAN			7	2029	+			509					O60630|Q9BS04	Missense_Mutation	SNP	ENST00000257600.3	37	c.1526A>G	CCDS9164.1	.	.	.	.	.	.	.	.	.	.	A	19.54	3.847346	0.71603	.	.	ENSG00000135144	ENST00000257600	T	0.51817	0.69	4.54	4.54	0.55810	.	0.000000	0.85682	D	0.000000	T	0.77280	0.4107	H	0.95950	3.745	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.84421	0.0571	10	0.87932	D	0	-7.4684	12.84	0.57797	1.0:0.0:0.0:0.0	.	509	Q86Y01	DTX1_HUMAN	C	509	ENSP00000257600:Y509C	ENSP00000257600:Y509C	Y	+	2	0	DTX1	112017369	1.000000	0.71417	0.895000	0.35142	0.834000	0.47266	7.245000	0.78237	1.663000	0.50791	0.459000	0.35465	TAT		0.652	DTX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405045.2			21	117	0	0	0	0.706142	0	21	117					G	113532986	A	G	113532986	3	3	225	1	0	0	0	0	1	0	0	0	4793	449	16	4	1552	4	DTX1	12	113532986	Missense_Mutation	SNP	A	TCGA-HC-7820-01A-11D-2114-08	12826758	113532986	20318909	31	10387											
CABP1	9478	broad.mit.edu	37	chr12	121094004	121094004	+	Intron	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgatgctggcccagaactgcGcagtcatgcacaacctgctg	9	8	11	13	1	1	2	1	1	0	1	1	2	1	2	2	1	6	4	2	1	2	0	rs202143699		TCGA-HC-7820-01A-11D-2114-08	TCGA-HC-7820-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba24c391-5c1e-47ed-a058-142c8e1feeee	02ca7fd5-cd78-4345-bbbf-2b803c6bdc01	g.chr12:121094004G>A	ENST00000316803.3	+	2	788				CABP1_ENST00000453000.1_Missense_Mutation_p.A131T|CABP1_ENST00000288616.3_Missense_Mutation_p.A52T|CABP1_ENST00000351200.2_Intron	NM_001033677.1	NP_001028849.1	Q9NZU7	CABP1_HUMAN	calcium binding protein 1						negative regulation of catalytic activity (GO:0043086)|negative regulation of cell communication by electrical coupling (GO:0010651)|negative regulation of protein import into nucleus (GO:0042308)|negative regulation of voltage-gated calcium channel activity (GO:1901386)	cell junction (GO:0030054)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendrite (GO:0030425)|extracellular space (GO:0005615)|Golgi membrane (GO:0000139)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)	calcium ion binding (GO:0005509)|calcium-dependent protein binding (GO:0048306)|enzyme inhibitor activity (GO:0004857)|nuclear localization sequence binding (GO:0008139)			central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(6)	9	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					CCAGAACTGCGCAGTCATGCA	0.647																																						ENST00000453000.1																			0				central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(6)	9						c.(391-393)Gca>Aca		calcium binding protein 1		G	,,THR/ALA	0,4406		0,0,2203	33	31	32		,,154	5.8	0.8	12		32	1,8599	1.2+/-3.3	0,1,4299	no	intron,intron,missense	CABP1	NM_001033677.1,NM_004276.3,NM_031205.2	,,58	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,,	,,52/228	121094004	1,13005	2203	4300	6503	SO:0001627	intron_variant	9478					cell cortex|cell junction|Golgi apparatus|perinuclear region of cytoplasm|postsynaptic density|postsynaptic membrane	calcium ion binding|calcium-dependent protein binding|enzyme inhibitor activity|protein binding	g.chr12:121094004G>A	AF169148	CCDS9204.1, CCDS9205.1, CCDS31913.1	12q24.31	2013-01-10	2007-03-12		ENSG00000157782	ENSG00000157782		"EF-hand domain containing"	1384	protein-coding gene	gene with protein product	"calbrain", "caldendrin"	605563				9920909, 10625670	Standard	NM_004276		Approved		uc001tyu.3	Q9NZU7	OTTHUMG00000156794	ENST00000316803.3:c.655-3677G>A	12.37:g.121094004G>A						CABP1_ENST00000288616.3_Missense_Mutation_p.A52T|CABP1_ENST00000351200.2_Intron|CABP1_ENST00000316803.3_Intron	p.A131T			Q9NZU7	CABP1_HUMAN			1	903	+	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)		0			Pro-rich.		O95663|Q8N6H5|Q9NZU8	Missense_Mutation	SNP	ENST00000316803.3	37	c.391G>A	CCDS31913.1	.	.	.	.	.	.	.	.	.	.	G	17.97	3.518952	0.64634	0.0	1.16E-4	ENSG00000157782	ENST00000288616;ENST00000453000	T;T	0.73681	-0.61;-0.77	5.82	5.82	0.92795	.	.	.	.	.	T	0.59838	0.2223	N	0.11201	0.11	0.34756	D	0.732245	B;B	0.26876	0.162;0.043	B;B	0.19946	0.027;0.003	T	0.61955	-0.6956	9	0.30854	T	0.27	.	20.089	0.97809	0.0:0.0:1.0:0.0	.	131;52	C9J8G2;Q9NZU7-1	.;.	T	52;131	ENSP00000288616:A52T;ENSP00000398959:A131T	ENSP00000288616:A52T	A	+	1	0	CABP1	119578387	1.000000	0.71417	0.828000	0.32881	0.975000	0.68041	6.017000	0.70805	2.765000	0.95021	0.591000	0.81541	GCA		0.647	CABP1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000345822.1	NM_001033677		3	39	0	0	0	0.115264	0	3	39					A	121094004	G	A	121094004	1	1	225	0	1	0	0	0	0	0	0	0	2531	1087	38	1		1	CABP1	12	121094004	Intron	SNP	G	TCGA-HC-7820-01A-11D-2114-08	7561018	121094004	12757891	32	10388											
IPO5	3843	broad.mit.edu	37	chr13	98655152	98655152	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgcagaccatggaagaccAaggcaatcaacgtgtgcagg	13	5	13	10	1	1	2	1	0	0	2	1	3	1	3	2	3	3	4	2	3	4	0			TCGA-HC-7820-01A-11D-2114-08	TCGA-HC-7820-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba24c391-5c1e-47ed-a058-142c8e1feeee	02ca7fd5-cd78-4345-bbbf-2b803c6bdc01	g.chr13:98655152A>G	ENST00000490680.1	+	13	1423	c.1358A>G	c.(1357-1359)cAa>cGa	p.Q453R	IPO5_ENST00000539640.1_Missense_Mutation_p.Q328R|IPO5_ENST00000261574.5_Missense_Mutation_p.Q471R			O00410	IPO5_HUMAN	importin 5	453					cellular response to amino acid stimulus (GO:0071230)|negative regulation of catalytic activity (GO:0043086)|NLS-bearing protein import into nucleus (GO:0006607)|positive regulation of protein import into nucleus (GO:0042307)|ribosomal protein import into nucleus (GO:0006610)|viral process (GO:0016032)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	GTPase inhibitor activity (GO:0005095)|poly(A) RNA binding (GO:0044822)|protein transporter activity (GO:0008565)|Ran GTPase binding (GO:0008536)			breast(2)|endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	27						ATGGAAGACCAAGGCAATCAA	0.453																																						ENST00000261574.5																			0				breast(2)|endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	27						c.(1411-1413)cAa>cGa		importin 5							89	77	81					13																	98655152		2203	4300	6503	SO:0001583	missense	3843				interspecies interaction between organisms|NLS-bearing substrate import into nucleus|ribosomal protein import into nucleus	cytoplasm|nuclear pore|nucleolus	GTPase inhibitor activity|protein transporter activity|Ran GTPase binding	g.chr13:98655152A>G	U72761	CCDS31999.1	13q32.2	2012-05-02	2008-04-15	2008-04-15	ENSG00000065150	ENSG00000065150		"Importins"	6402	protein-coding gene	gene with protein product		602008	"karyopherin (importin) beta 3", "RAN binding protein 5"	KPNB3, RANBP5		9114010, 9271386, 17005651	Standard	NM_002271		Approved	IMB3, MGC2068, Pse1	uc001vne.3	O00410	OTTHUMG00000017244	ENST00000490680.1:c.1358A>G	13.37:g.98655152A>G	ENSP00000418393:p.Gln453Arg					IPO5_ENST00000490680.1_Missense_Mutation_p.Q453R|IPO5_ENST00000539640.1_Missense_Mutation_p.Q328R	p.Q471R	NM_002271.4	NP_002262.3	O00410	IPO5_HUMAN			16	1592	+			453					B4DZA0|O15257|Q5T578|Q86XC7	Missense_Mutation	SNP	ENST00000490680.1	37	c.1412A>G		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	15.81|15.81	2.942338|2.942338	0.53079|0.53079	.|.	.|.	ENSG00000065150|ENSG00000065150	ENST00000469360|ENST00000261574;ENST00000357602;ENST00000490680;ENST00000539640	.|T;T;T;T	.|0.16743	.|2.32;2.32;2.32;2.32	5.72|5.72	5.72|5.72	0.89469|0.89469	.|Armadillo-like helical (1);Armadillo-type fold (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.22975|0.22975	0.0555|0.0555	L|L	0.49126|0.49126	1.545|1.545	0.80722|0.80722	D|D	1|1	.|B;B;B	.|0.23442	.|0.085;0.017;0.03	.|B;B;B	.|0.35770	.|0.21;0.039;0.085	T|T	0.04216|0.04216	-1.0968|-1.0968	5|10	.|0.25106	.|T	.|0.35	-17.1489|-17.1489	15.9975|15.9975	0.80262|0.80262	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|328;453;471	.|B4E0R6;O00410;O00410-3	.|.;IPO5_HUMAN;.	E|R	455|471;453;453;328	.|ENSP00000261574:Q471R;ENSP00000350219:Q453R;ENSP00000418393:Q453R;ENSP00000445126:Q328R	.|ENSP00000261574:Q471R	K|Q	+|+	1|2	0|0	IPO5|IPO5	97453153|97453153	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.257000|9.257000	0.95545|0.95545	2.170000|2.170000	0.68504|0.68504	0.460000|0.460000	0.39030|0.39030	AAG|CAA		0.453	IPO5-006	NOVEL	alternative_5_UTR|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000354655.1	NM_002271		6	20	0	0	0	0.217242	0	6	20					G	98655152	A	G	98655152	3	3	225	1	0	0	0	0	1	0	0	0	7796	130	5	4	1466	4	IPO5	13	98655152	Missense_Mutation	SNP	A	TCGA-HC-7820-01A-11D-2114-08		98655152	16514726	33	10389											
TEP1	7011	broad.mit.edu	37	chr14	20856080	20856080	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tgacccttgctgggaaacagGagccaaggggcttggagtgt	9	8	16	8	0	0	1	0	1	0	0	0	4	0	4	2	5	3	2	2	5	2	2	rs552770900		TCGA-HC-7820-01A-11D-2114-08	TCGA-HC-7820-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba24c391-5c1e-47ed-a058-142c8e1feeee	02ca7fd5-cd78-4345-bbbf-2b803c6bdc01	g.chr14:20856080G>A	ENST00000262715.5	-	18	2708	c.2668C>T	c.(2668-2670)Cct>Tct	p.P890S	TEP1_ENST00000556935.1_Missense_Mutation_p.P782S	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	890					RNA-dependent DNA replication (GO:0006278)|telomere maintenance via recombination (GO:0000722)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|ribonucleoprotein complex (GO:0030529)|telomerase holoenzyme complex (GO:0005697)	ATP binding (GO:0005524)|RNA binding (GO:0003723)			NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		TGGGAAACAGGAGCCAAGGGG	0.542																																						ENST00000262715.5																			0				NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96						c.(2668-2670)Cct>Tct		telomerase-associated protein 1							95	91	92					14																	20856080		2203	4300	6503	SO:0001583	missense	7011				telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding	g.chr14:20856080G>A		CCDS9548.1	14q11.2	2013-01-10			ENSG00000129566	ENSG00000129566		"WD repeat domain containing"	11726	protein-coding gene	gene with protein product	"TROVE domain family, member 1"	601686				9403057	Standard	NM_007110		Approved	TP1, TLP1, VAULT2, p240, TROVE1	uc001vxe.3	Q99973	OTTHUMG00000029515	ENST00000262715.5:c.2668C>T	14.37:g.20856080G>A	ENSP00000262715:p.Pro890Ser					TEP1_ENST00000556935.1_Missense_Mutation_p.P782S	p.P890S	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)	18	2708	-	all_cancers(95;0.00123)	all_lung(585;0.235)	890					A0AUV9	Missense_Mutation	SNP	ENST00000262715.5	37	c.2668C>T	CCDS9548.1	.	.	.	.	.	.	.	.	.	.	g	9.320	1.057919	0.19987	.	.	ENSG00000129566	ENST00000262715;ENST00000359243;ENST00000556935	T;T	0.48836	0.81;0.8	5.47	1.69	0.24217	.	0.235735	0.33732	N	0.004612	T	0.35508	0.0934	L	0.40543	1.245	0.26428	N	0.975984	B;B;B	0.24721	0.033;0.11;0.02	B;B;B	0.26770	0.032;0.073;0.014	T	0.22312	-1.0220	10	0.42905	T	0.14	-4.5293	8.2025	0.31432	0.3196:0.0:0.6804:0.0	.	782;240;890	G3V5X7;G3V2A4;Q99973	.;.;TEP1_HUMAN	S	890;890;782	ENSP00000262715:P890S;ENSP00000452574:P782S	ENSP00000262715:P890S	P	-	1	0	TEP1	19925920	0.720000	0.27996	0.738000	0.30950	0.395000	0.30598	0.250000	0.18235	0.048000	0.15891	-0.897000	0.02905	CCT		0.542	TEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073563.2	NM_007110		17	88	0	0	0	0.592651	0	17	88					A	20856080	G	A	20856080	3	1	225	1	0	0	0	0	1	0	0	0	15756	1174	41	3	5367	3	TEP1	14	20856080	Missense_Mutation	SNP	G	TCGA-HC-7820-01A-11D-2114-08		20856080	86493460	34	10390											
C14orf115	55237	broad.mit.edu	37	chr14	74825501	74825501	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	caagagctttccctcctacaAggagttcagtgccctctttc	8	12	7	14	0	2	1	1	0	1	1	5	2	4	2	3	1	3	2	3	1	3	4			TCGA-HC-7820-01A-11D-2114-08	TCGA-HC-7820-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba24c391-5c1e-47ed-a058-142c8e1feeee	02ca7fd5-cd78-4345-bbbf-2b803c6bdc01	g.chr14:74825501A>T	ENST00000256362.4	+	2	2256	c.2015A>T	c.(2014-2016)aAg>aTg	p.K672M		NM_018228.2	NP_060698.2	Q9H8Y1	VRTN_HUMAN	vertebrae development associated	672					transposition, DNA-mediated (GO:0006313)		sequence-specific DNA binding (GO:0043565)|transposase activity (GO:0004803)			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(15)|ovary(5)|prostate(2)|skin(1)|urinary_tract(1)	41						CCCTCCTACAAGGAGTTCAGT	0.567																																						ENST00000256362.4																			0				NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(15)|ovary(5)|prostate(2)|skin(1)|urinary_tract(1)	41						c.(2014-2016)aAg>aTg		vertebrae development associated							84	68	73					14																	74825501		2203	4300	6503	SO:0001583	missense	55237				transposition, DNA-mediated		DNA binding|transposase activity	g.chr14:74825501A>T	AK001673	CCDS9830.1	14q24.2	2012-12-07	2012-12-07	2010-10-20	ENSG00000133980	ENSG00000133980			20223	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 115", "vertebrae development homolog (pig)"	C14orf115		21232157	Standard	NM_018228		Approved	FLJ10811, vertnin	uc001xpw.4	Q9H8Y1	OTTHUMG00000171208	ENST00000256362.4:c.2015A>T	14.37:g.74825501A>T	ENSP00000256362:p.Lys672Met						p.K672M	NM_018228.2	NP_060698.2	Q9H8Y1	VRTN_HUMAN			2	2256	+			672					Q9NVC7	Missense_Mutation	SNP	ENST00000256362.4	37	c.2015A>T	CCDS9830.1	.	.	.	.	.	.	.	.	.	.	A	22.0	4.235891	0.79800	.	.	ENSG00000133980	ENST00000256362	T	0.61392	0.11	4.27	4.27	0.50696	.	0.000000	0.85682	U	0.000000	T	0.64897	0.2640	L	0.32530	0.975	0.52099	D	0.999945	D	0.89917	1.0	D	0.85130	0.997	T	0.68432	-0.5410	10	0.87932	D	0	-24.4381	12.1709	0.54157	1.0:0.0:0.0:0.0	.	672	Q9H8Y1	VRTN_HUMAN	M	672	ENSP00000256362:K672M	ENSP00000256362:K672M	K	+	2	0	VRTN	73895254	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	6.564000	0.73969	1.802000	0.52723	0.477000	0.44152	AAG		0.567	VRTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412339.1	NM_018228		24	74	0	0	0	0.717897	0	24	74					T	74825501	A	T	74825501	3	4	225	1	0	0	0	0	1	0	0	0	1740	72	3	5	2017	5	C14orf115	14	74825501	Missense_Mutation	SNP	A	TCGA-HC-7820-01A-11D-2114-08	53969421	74825501	32524039	35	10391											
FAM174B	400451	broad.mit.edu	37	chr15	93173520	93173520	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tggcgccatttccactcgctCtgctggagtggtgatgatat	6	13	12	10	2	1	2	0	2	1	0	3	3	2	3	2	3	1	2	2	3	1	2			TCGA-HC-7820-01A-11D-2114-08	TCGA-HC-7820-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba24c391-5c1e-47ed-a058-142c8e1feeee	02ca7fd5-cd78-4345-bbbf-2b803c6bdc01	g.chr15:93173520C>G	ENST00000327355.5	-	2	698	c.400G>C	c.(400-402)Gag>Cag	p.E134Q	FAM174B_ENST00000555064.1_5'UTR|FAM174B_ENST00000555748.1_5'UTR|FAM174B_ENST00000555696.1_5'UTR|FAM174B_ENST00000553393.1_5'UTR	NM_207446.2	NP_997329.2	Q3ZCQ3	F174B_HUMAN	family with sequence similarity 174, member B	134						integral component of membrane (GO:0016021)				endometrium(2)|lung(1)	3						TCCACTCGCTCTGCTGGAGTG	0.478																																						ENST00000327355.5																			0				endometrium(2)|lung(1)	3						c.(400-402)Gag>Cag		family with sequence similarity 174, member B							121	119	120					15																	93173520		2106	4220	6326	SO:0001583	missense	400451					integral to membrane		g.chr15:93173520C>G		CCDS45355.1	15q26.1	2012-10-03			ENSG00000185442	ENSG00000185442			34339	protein-coding gene	gene with protein product							Standard	NM_207446		Approved	LOC400451, MGC102891	uc010boe.3	Q3ZCQ3	OTTHUMG00000171744	ENST00000327355.5:c.400G>C	15.37:g.93173520C>G	ENSP00000329040:p.Glu134Gln					FAM174B_ENST00000553393.1_5'UTR|FAM174B_ENST00000555064.1_5'UTR|FAM174B_ENST00000555696.1_5'UTR|FAM174B_ENST00000555748.1_5'UTR	p.E134Q	NM_207446.2	NP_997329.2	Q3ZCQ3	F174B_HUMAN			2	698	-			134					Q3ZCR9|Q8NBH7	Missense_Mutation	SNP	ENST00000327355.5	37	c.400G>C	CCDS45355.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.322435	0.81580	.	.	ENSG00000185442	ENST00000327355	T	0.54071	0.59	5.38	5.38	0.77491	.	0.000000	0.64402	D	0.000001	T	0.72779	0.3503	M	0.71581	2.175	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.75701	-0.3226	10	0.87932	D	0	-32.414	17.8724	0.88815	0.0:1.0:0.0:0.0	.	134	Q3ZCQ3	F174B_HUMAN	Q	134	ENSP00000329040:E134Q	ENSP00000329040:E134Q	E	-	1	0	FAM174B	90974524	1.000000	0.71417	0.894000	0.35097	0.520000	0.34377	6.837000	0.75354	2.525000	0.85131	0.591000	0.81541	GAG		0.478	FAM174B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000414931.1	NM_207446		8	26	0	0	0	0.307466	0	8	26					G	93173520	C	G	93173520	3	3	225	1	0	0	0	0	1	0	0	0	5496	922	32	5	87	5	FAM174B	15	93173520	Missense_Mutation	SNP	C	TCGA-HC-7820-01A-11D-2114-08		93173520	9357872	36	10392											
SRRM2	23524	broad.mit.edu	37	chr16	2817170	2817170	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aatgtcccaggttccagcccCggtgcctctcatgagtctca	7	10	9	15	1	2	1	2	1	2	0	6	1	4	1	5	2	2	1	5	2	1	1			TCGA-HC-7820-01A-11D-2114-08	TCGA-HC-7820-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba24c391-5c1e-47ed-a058-142c8e1feeee	02ca7fd5-cd78-4345-bbbf-2b803c6bdc01	g.chr16:2817170C>T	ENST00000301740.8	+	11	7190	c.6641C>T	c.(6640-6642)cCg>cTg	p.P2214L	AC092117.2_ENST00000581119.1_RNA	NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	2214	Ala-rich.|Ser-rich.				mRNA splicing, via spliceosome (GO:0000398)	Cajal body (GO:0015030)|catalytic step 2 spliceosome (GO:0071013)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|poly(A) RNA binding (GO:0044822)|protein N-terminus binding (GO:0047485)	p.P2214Q(1)		breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						GTTCCAGCCCCGGTGCCTCTC	0.612																																						ENST00000301740.8																			1	Substitution - Missense(1)	p.P2214Q(1)	lung(1)	breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						c.(6640-6642)cCg>cTg		serine/arginine repetitive matrix 2							61	69	66					16																	2817170		2198	4300	6498	SO:0001583	missense	23524					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding	g.chr16:2817170C>T	AF201422	CCDS32373.1	16p13.3	2012-07-02			ENSG00000167978	ENSG00000167978			16639	protein-coding gene	gene with protein product		606032				10668804, 11004489	Standard	NM_016333		Approved	SRm300, SRL300, KIAA0324, Cwc21	uc002crk.3	Q9UQ35	OTTHUMG00000177358	ENST00000301740.8:c.6641C>T	16.37:g.2817170C>T	ENSP00000301740:p.Pro2214Leu						p.P2214L	NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN			11	7190	+			2214			Ala-rich.|Ser-rich.		A6NKB9|D3DU97|O15038|O94803|Q6NSL3|Q6PIM3|Q6PK40|Q8IW17|Q96GY7|Q9P0G1|Q9UHA8|Q9UQ36|Q9UQ37|Q9UQ38|Q9UQ40	Missense_Mutation	SNP	ENST00000301740.8	37	c.6641C>T	CCDS32373.1	.	.	.	.	.	.	.	.	.	.	C	12.36	1.913740	0.33815	.	.	ENSG00000167978	ENST00000301740;ENST00000544933	T	0.78481	-1.18	5.73	4.78	0.61160	.	0.093959	0.47455	N	0.000224	T	0.78496	0.4292	N	0.19112	0.55	0.44508	D	0.997451	D	0.89917	1.0	D	0.76575	0.988	T	0.80564	-0.1326	10	0.72032	D	0.01	-10.7743	10.6554	0.45671	0.0:0.9119:0.0:0.0881	.	2214	Q9UQ35	SRRM2_HUMAN	L	2214;1466	ENSP00000301740:P2214L	ENSP00000301740:P2214L	P	+	2	0	SRRM2	2757171	0.964000	0.33143	0.981000	0.43875	0.922000	0.55478	2.842000	0.48230	1.439000	0.47511	0.591000	0.81541	CCG		0.612	SRRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436411.1			3	75	0	0	0	0.115264	0	3	75					T	2817170	C	T	2817170	3	4	225	1	0	0	0	0	1	0	0	0	15168	652	23	2	6679	2	SRRM2	16	2817170	Missense_Mutation	SNP	C	TCGA-HC-7820-01A-11D-2114-08		2817170	87537583	37	10393											
CDH5	1003	broad.mit.edu	37	chr16	66422312	66422312	+	Frame_Shift_Del	DEL	G	G	-																															gtcatgtaccaaatcctgaaGgggaaagagtattttgccat																										TCGA-HC-7820-01A-11D-2114-08	TCGA-HC-7820-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba24c391-5c1e-47ed-a058-142c8e1feeee	24bd416b-e5e7-4f84-bf13-71ba28824b97	g.chr16:66422312delG	ENST00000341529.3	+	4	733	c.585delG	c.(583-585)aagfs	p.K195fs	CDH5_ENST00000563425.2_Frame_Shift_Del_p.K195fs	NM_001795.3	NP_001786.2	P33151	CADH5_HUMAN	cadherin 5, type 2 (vascular endothelium)	195	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|blood vessel maturation (GO:0001955)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|negative regulation of cell proliferation (GO:0008285)|regulation of establishment of cell polarity (GO:2000114)	cell junction (GO:0030054)|cell-cell junction (GO:0005911)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)|ion channel binding (GO:0044325)|receptor binding (GO:0005102)			central_nervous_system(1)|endometrium(3)|kidney(18)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	54		Ovarian(137;0.0955)		OV - Ovarian serous cystadenocarcinoma(108;0.107)	Lenalidomide(DB00480)	AAATCCTGAAGGGGAAAGAGT	0.517																																						ENST00000341529.3																			0				central_nervous_system(1)|endometrium(3)|kidney(18)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	54						c.(583-585)aafs		cadherin 5, type 2 (vascular endothelium)							238	192	208					16																	66422312		2202	4300	6502	SO:0001589	frameshift_variant	1003				adherens junction organization|cell junction assembly|homophilic cell adhesion|regulation of establishment of cell polarity	integral to membrane|membrane fraction	beta-catenin binding|calcium ion binding|ion channel binding|receptor binding	g.chr16:66422312delG	X79981	CCDS10804.1	16q22.1	2010-01-26	2008-07-25		ENSG00000179776	ENSG00000179776		"CD molecules", "Cadherins / Major cadherins"	1764	protein-coding gene	gene with protein product	"VE-cadherin"	601120	"cadherin 5, type 2, VE-cadherin (vascular epithelium)"			2059658	Standard	NM_001795		Approved	7B4, CD144	uc002eom.4	P33151	OTTHUMG00000137495	ENST00000341529.3:c.585delG	16.37:g.66422312delG	ENSP00000344115:p.Lys195fs					CDH5_ENST00000563425.2_Frame_Shift_Del_p.K195fs	p.K195fs	NM_001795.3	NP_001786.2	P33151	CADH5_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.107)	4	733	+		Ovarian(137;0.0955)	195			Cadherin 2.		Q4VAI5|Q4VAI6	Frame_Shift_Del	DEL	ENST00000341529.3	37	c.585delG	CCDS10804.1																																																																																				0.517	CDH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268767.1	NM_001795		26	159						26	159	---	---	---	---	-	66422312	G	-	66422312	7	5	225	1	0	1	0	1	0	0	0	0	3113	991	35	0	595	0	CDH5	16	66422312	Frame_Shift_Del	DEL	G	TCGA-HC-7820-01A-11D-2114-08	63605142	66422312	23932441	38	10394	54	2									
CDH5	1003	broad.mit.edu	37	chr16	66422319	66422319	+	Missense_Mutation	SNP	G	G	A																															accaaatcctgaaggggaaaGagtattttgccatcgataat																										TCGA-HC-7820-01A-11D-2114-08	TCGA-HC-7820-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba24c391-5c1e-47ed-a058-142c8e1feeee	02ca7fd5-cd78-4345-bbbf-2b803c6bdc01	g.chr16:66422319G>A	ENST00000341529.3	+	4	740	c.592G>A	c.(592-594)Gag>Aag	p.E198K	CDH5_ENST00000563425.2_Missense_Mutation_p.E198K	NM_001795.3	NP_001786.2	P33151	CADH5_HUMAN	cadherin 5, type 2 (vascular endothelium)	198	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|blood vessel maturation (GO:0001955)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|negative regulation of cell proliferation (GO:0008285)|regulation of establishment of cell polarity (GO:2000114)	cell junction (GO:0030054)|cell-cell junction (GO:0005911)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)|ion channel binding (GO:0044325)|receptor binding (GO:0005102)			central_nervous_system(1)|endometrium(3)|kidney(18)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	54		Ovarian(137;0.0955)		OV - Ovarian serous cystadenocarcinoma(108;0.107)	Lenalidomide(DB00480)	GAAGGGGAAAGAGTATTTTGC	0.527																																						ENST00000341529.3																			0				central_nervous_system(1)|endometrium(3)|kidney(18)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	54						c.(592-594)Gag>Aag		cadherin 5, type 2 (vascular endothelium)							244	197	213					16																	66422319		2202	4300	6502	SO:0001583	missense	1003				adherens junction organization|cell junction assembly|homophilic cell adhesion|regulation of establishment of cell polarity	integral to membrane|membrane fraction	beta-catenin binding|calcium ion binding|ion channel binding|receptor binding	g.chr16:66422319G>A	X79981	CCDS10804.1	16q22.1	2010-01-26	2008-07-25		ENSG00000179776	ENSG00000179776		"CD molecules", "Cadherins / Major cadherins"	1764	protein-coding gene	gene with protein product	"VE-cadherin"	601120	"cadherin 5, type 2, VE-cadherin (vascular epithelium)"			2059658	Standard	NM_001795		Approved	7B4, CD144	uc002eom.4	P33151	OTTHUMG00000137495	ENST00000341529.3:c.592G>A	16.37:g.66422319G>A	ENSP00000344115:p.Glu198Lys					CDH5_ENST00000563425.2_Missense_Mutation_p.E198K	p.E198K	NM_001795.3	NP_001786.2	P33151	CADH5_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.107)	4	740	+		Ovarian(137;0.0955)	198			Cadherin 2.		Q4VAI5|Q4VAI6	Missense_Mutation	SNP	ENST00000341529.3	37	c.592G>A	CCDS10804.1	.	.	.	.	.	.	.	.	.	.	G	16.18	3.049415	0.55218	.	.	ENSG00000179776	ENST00000341529;ENST00000379531	T	0.51071	0.72	5.46	3.49	0.39957	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.33990	0.0882	N	0.16567	0.415	0.54753	D	0.999988	B	0.24576	0.106	B	0.32289	0.143	T	0.25117	-1.0141	9	0.62326	D	0.03	.	10.2436	0.43328	0.1623:0.0:0.8377:0.0	.	198	P33151	CADH5_HUMAN	K	198	ENSP00000344115:E198K	ENSP00000344115:E198K	E	+	1	0	CDH5	64979820	0.973000	0.33851	0.043000	0.18650	0.932000	0.56968	2.492000	0.45311	1.296000	0.44742	0.563000	0.77884	GAG		0.527	CDH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268767.1	NM_001795		23	122	0	0	0	0.681144	0	23	122					A	66422319	G	A	66422319	3	1	225	1	0	0	0	0	1	0	0	0	3113	943	33	3	602	3	CDH5	16	66422319	Missense_Mutation	SNP	G	TCGA-HC-7820-01A-11D-2114-08	7	66422319	23932434	39	10395	54	2									
ZFHX3	463	broad.mit.edu	37	chr16	72830348	72830348	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcggcactgatggctgggccGgtgcaattgtaggtgaggtg	6	9	19	7	2	0	2	0	2	0	0	0	2	0	2	1	6	1	4	1	6	2	2			TCGA-HC-7820-01A-11D-2114-08	TCGA-HC-7820-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba24c391-5c1e-47ed-a058-142c8e1feeee	02ca7fd5-cd78-4345-bbbf-2b803c6bdc01	g.chr16:72830348G>A	ENST00000268489.5	-	9	6905	c.6233C>T	c.(6232-6234)cCg>cTg	p.P2078L	ZFHX3_ENST00000397992.5_Missense_Mutation_p.P1164L	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	2078					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|muscle organ development (GO:0007517)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of myoblast differentiation (GO:0045663)|regulation of neuron differentiation (GO:0045664)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	enzyme binding (GO:0019899)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				TGGCTGGGCCGGTGCAATTGT	0.672																																						ENST00000268489.5																			0				NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153						c.(6232-6234)cCg>cTg		zinc finger homeobox 3							68	58	61					16																	72830348		2198	4300	6498	SO:0001583	missense	463				muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr16:72830348G>A	D10250	CCDS10908.1, CCDS54035.1	16q22.3	2012-03-09	2007-08-09	2007-08-09	ENSG00000140836	ENSG00000140836		"Zinc fingers, C2H2-type", "Homeoboxes / ZF class"	777	protein-coding gene	gene with protein product		104155	"AT-binding transcription factor 1"	ATBF1		1719379, 7592926	Standard	NM_006885		Approved	ZNF927	uc002fck.3	Q15911	OTTHUMG00000137599	ENST00000268489.5:c.6233C>T	16.37:g.72830348G>A	ENSP00000268489:p.Pro2078Leu					ZFHX3_ENST00000397992.5_Missense_Mutation_p.P1164L	p.P2078L	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN			9	6905	-		Ovarian(137;0.13)	2078					D3DWS8|O15101|Q13719	Missense_Mutation	SNP	ENST00000268489.5	37	c.6233C>T	CCDS10908.1	.	.	.	.	.	.	.	.	.	.	G	12.89	2.073200	0.36566	.	.	ENSG00000140836	ENST00000268489;ENST00000397992	T;T	0.74106	-0.81;-0.8	5.4	5.4	0.78164	.	0.000000	0.46442	D	0.000289	T	0.67144	0.2862	L	0.36672	1.1	0.80722	D	1	B	0.30211	0.273	B	0.22753	0.041	T	0.66308	-0.5956	10	0.51188	T	0.08	.	19.1839	0.93635	0.0:0.0:1.0:0.0	.	2078	Q15911	ZFHX3_HUMAN	L	2078;1164	ENSP00000268489:P2078L;ENSP00000438926:P1164L	ENSP00000268489:P2078L	P	-	2	0	ZFHX3	71387849	1.000000	0.71417	0.048000	0.18961	0.020000	0.10135	7.882000	0.87258	2.523000	0.85059	0.655000	0.94253	CCG		0.672	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269008.1	NM_006885		3	93	0	0	0	0.115264	0	3	93					A	72830348	G	A	72830348	3	1	225	1	0	0	0	0	1	0	0	0	17631	1116	39	2	4886	2	ZFHX3	16	72830348	Missense_Mutation	SNP	G	TCGA-HC-7820-01A-11D-2114-08	6408029	72830348	17524405	40	10396											
ADAD2	161931	broad.mit.edu	37	chr16	84229221	84229221	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tggccccccagccagggcccGgacccccattcaccctcaag	7	4	9	21	1	2	0	2	0	0	0	2	1	2	1	8	3	1	0	8	3	1	1	rs201035894		TCGA-HC-7820-01A-11D-2114-08	TCGA-HC-7820-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba24c391-5c1e-47ed-a058-142c8e1feeee	02ca7fd5-cd78-4345-bbbf-2b803c6bdc01	g.chr16:84229221G>A	ENST00000315906.5	+	6	1022	c.970G>A	c.(970-972)Gga>Aga	p.G324R	RP11-486L19.2_ENST00000561900.1_RNA|ADAD2_ENST00000268624.3_Missense_Mutation_p.G406R|RP11-486L19.2_ENST00000565643.1_RNA|RP11-486L19.2_ENST00000536986.1_RNA|RP11-486L19.2_ENST00000569834.1_RNA	NM_001145400.1	NP_001138872.1	Q8NCV1	ADAD2_HUMAN	adenosine deaminase domain containing 2	324	A to I editase. {ECO:0000255|PROSITE- ProRule:PRU00240}.				RNA processing (GO:0006396)		adenosine deaminase activity (GO:0004000)|RNA binding (GO:0003723)			NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)|skin(1)	13						GCCAGGGCCCGGACCCCCATT	0.687													G|||	1	0.000199681	0	0	5008	,	,		14356	0		0.001	False		,,,				2504	0					ENST00000268624.3																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)|skin(1)	13						c.(1216-1218)Gga>Aga		adenosine deaminase domain containing 2							22	28	26					16																	84229221		2200	4298	6498	SO:0001583	missense	161931				RNA processing	intracellular	adenosine deaminase activity|double-stranded RNA binding	g.chr16:84229221G>A	AF447586	CCDS10944.1, CCDS45536.1	16q24.1	2007-05-31			ENSG00000140955	ENSG00000140955			30714	protein-coding gene	gene with protein product							Standard	NM_139174		Approved	TENRL, FLJ00337	uc002fhr.2	Q8NCV1	OTTHUMG00000137637	ENST00000315906.5:c.970G>A	16.37:g.84229221G>A	ENSP00000325153:p.Gly324Arg					RP11-486L19.2_ENST00000565643.1_RNA|RP11-486L19.2_ENST00000569834.1_RNA|RP11-486L19.2_ENST00000536986.1_RNA|ADAD2_ENST00000315906.5_Missense_Mutation_p.G324R	p.G406R	NM_139174.3	NP_631913.3	Q8NCV1	ADAD2_HUMAN			7	1309	+			324			A to I editase.		B2RCL6|Q8NA94	Missense_Mutation	SNP	ENST00000315906.5	37	c.1216G>A	CCDS45536.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	9.407	1.079428	0.20227	.	.	ENSG00000140955	ENST00000315906;ENST00000268624	D;D	0.93859	-3.3;-3.3	4.92	3.93	0.45458	Adenosine deaminase/editase (2);	0.201974	0.44285	D	0.000473	D	0.92632	0.7659	M	0.81802	2.56	0.36445	D	0.86572	P;D	0.56968	0.506;0.978	B;B	0.43194	0.146;0.411	D	0.93852	0.7146	10	0.87932	D	0	-20.6296	10.6906	0.45869	0.0:0.0:0.8086:0.1914	.	324;406	Q8NCV1;Q8NCV1-2	ADAD2_HUMAN;.	R	324;406	ENSP00000325153:G324R;ENSP00000268624:G406R	ENSP00000268624:G406R	G	+	1	0	ADAD2	82786722	0.958000	0.32768	0.687000	0.30102	0.027000	0.11550	1.728000	0.38105	1.151000	0.42436	0.555000	0.69702	GGA		0.687	ADAD2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433385.1	NM_139174		4	29	0	0	0	0.150653	0	4	29					A	84229221	G	A	84229221	3	1	225	1	0	0	0	0	1	0	0	0	232	1117	39	2	1242	2	ADAD2	16	84229221	Missense_Mutation	SNP	G	TCGA-HC-7820-01A-11D-2114-08	11398873	84229221	6125532	41	10397											
FOXF1	2294	broad.mit.edu	37	chr16	86544211	86544213	+	In_Frame_Del	DEL	CGG	CGG	-																															gagaagcagcagccaccgcaCggcggcggcggcggcggcgg																										TCGA-HC-7820-01A-11D-2114-08	TCGA-HC-7820-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba24c391-5c1e-47ed-a058-142c8e1feeee	02ca7fd5-cd78-4345-bbbf-2b803c6bdc01	g.chr16:86544211_86544213delCGG	ENST00000262426.4	+	1	79_81	c.36_38delCGG	c.(34-39)cacggc>cac	p.G23del	FENDRR_ENST00000595886.1_lincRNA	NM_001451.2	NP_001442.2	Q12946	FOXF1_HUMAN	forkhead box F1	23					blood vessel development (GO:0001568)|branching involved in open tracheal system development (GO:0060446)|cardiac left ventricle morphogenesis (GO:0003214)|cellular response to cytokine stimulus (GO:0071345)|cellular response to organic cyclic compound (GO:0071407)|detection of wounding (GO:0014822)|determination of left/right symmetry (GO:0007368)|digestive tract development (GO:0048565)|ductus arteriosus closure (GO:0097070)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic ectodermal digestive tract morphogenesis (GO:0048613)|embryonic foregut morphogenesis (GO:0048617)|endocardial cushion development (GO:0003197)|epithelial cell differentiation involved in mammary gland alveolus development (GO:0061030)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment of epithelial cell apical/basal polarity (GO:0045198)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|in utero embryonic development (GO:0001701)|lateral mesodermal cell differentiation (GO:0048371)|lung alveolus development (GO:0048286)|lung development (GO:0030324)|lung lobe morphogenesis (GO:0060463)|lung vasculature development (GO:0060426)|mesenchyme migration (GO:0090131)|midgut development (GO:0007494)|morphogenesis of a branching structure (GO:0001763)|negative regulation of inflammatory response (GO:0050728)|negative regulation of mast cell degranulation (GO:0043305)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|pancreas development (GO:0031016)|positive regulation of cell migration (GO:0030335)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of smooth muscle cell differentiation (GO:0051150)|renal system development (GO:0072001)|respiratory tube development (GO:0030323)|right lung morphogenesis (GO:0060461)|single organismal cell-cell adhesion (GO:0016337)|smooth muscle cell differentiation (GO:0051145)|smoothened signaling pathway (GO:0007224)|somitogenesis (GO:0001756)|trachea development (GO:0060438)|ureter development (GO:0072189)|vasculogenesis (GO:0001570)|venous blood vessel development (GO:0060841)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding (GO:0043565)			autonomic_ganglia(1)|breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|urinary_tract(1)	12						AGCCACCGCAcggcggcggcggc	0.803																																						ENST00000262426.4																			0				autonomic_ganglia(1)|breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|urinary_tract(1)	12						c.(34-39)cac>ca		forkhead box F1				6,174		2,2,86						1.8	1			1	27,779		7,13,383	no	coding	FOXF1	NM_001451.2		9,15,469	A1A1,A1R,RR		3.3499,3.3333,3.3469				33,953				SO:0001651	inframe_deletion	2294				branching involved in open tracheal system development|cardiac left ventricle morphogenesis|embryonic ectodermal digestive tract morphogenesis|endocardial cushion development|in utero embryonic development|lung vasculature development|midgut development|pancreas development|positive regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|ureter development|venous blood vessel development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding	g.chr16:86544211_86544213delCGG	U13219	CCDS10957.2	16q24	2008-02-05			ENSG00000103241	ENSG00000103241		"Forkhead boxes"	3809	protein-coding gene	gene with protein product		601089		FKHL5		8825632, 7957066	Standard	NM_001451		Approved	FREAC1	uc002fjl.3	Q12946	OTTHUMG00000137651	ENST00000262426.4:c.36_38delCGG	16.37:g.86544220_86544222delCGG	ENSP00000262426:p.Gly23del						p.HG12del	NM_001451.2	NP_001442.2	Q12946	FOXF1_HUMAN			1	79_81	+			12					B2RAF4|Q5FWE5	In_Frame_Del	DEL	ENST00000262426.4	37	c.36_38delCGG	CCDS10957.2																																																																																				0.803	FOXF1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000269103.2	NM_001451		2	4						2	4	---	---	---	---	-	86544213	CGG	-	86544211	7	5	225	1	0	1	0	1	0	0	0	0	6005	535	19	0	38	0	FOXF1	16	86544211	In_Frame_Del	DEL	CGG	TCGA-HC-7820-01A-11D-2114-08	2314990	86544211	3810542	42	10398											
MRC2	9902	broad.mit.edu	37	chr17	60741987	60741987	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgggcaggtcagagtcacccCggcttgcaataccagcctcc	8	6	11	16	2	2	1	2	0	0	1	3	1	3	1	5	3	3	3	5	3	2	2	rs200452538		TCGA-HC-7820-01A-11D-2114-08	TCGA-HC-7820-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba24c391-5c1e-47ed-a058-142c8e1feeee	02ca7fd5-cd78-4345-bbbf-2b803c6bdc01	g.chr17:60741987C>T	ENST00000303375.5	+	2	599	c.197C>T	c.(196-198)cCg>cTg	p.P66L	Y_RNA_ENST00000384652.1_RNA	NM_006039.4	NP_006030.2	Q9UBG0	MRC2_HUMAN	mannose receptor, C type 2	66	Ricin B-type lectin. {ECO:0000255|PROSITE-ProRule:PRU00174}.				collagen catabolic process (GO:0030574)|endocytosis (GO:0006897)|osteoblast differentiation (GO:0001649)	focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)|collagen binding (GO:0005518)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(11)|lung(28)|ovary(2)|prostate(1)|skin(3)	53						AGAGTCACCCCGGCTTGCAAT	0.632													C|||	1	0.000199681	0	0	5008	,	,		19170	0.001		0	False		,,,				2504	0					ENST00000303375.5																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(11)|lung(28)|ovary(2)|prostate(1)|skin(3)	53						c.(196-198)cCg>cTg		mannose receptor, C type 2							79	79	79					17																	60741987		2203	4300	6503	SO:0001583	missense	9902				endocytosis	integral to membrane	receptor activity|sugar binding	g.chr17:60741987C>T	AB014609	CCDS11634.1	17q23	2011-08-30				ENSG00000011028		"CD molecules", "C-type lectin domain containing"	16875	protein-coding gene	gene with protein product		612264				9734811, 8702911	Standard	NM_006039		Approved	KIAA0709, ENDO180, CLEC13E, CD280	uc002jad.4	Q9UBG0		ENST00000303375.5:c.197C>T	17.37:g.60741987C>T	ENSP00000307513:p.Pro66Leu						p.P66L	NM_006039.4	NP_006030.2	Q9UBG0	MRC2_HUMAN			2	599	+			66			Ricin B-type lectin.		A6H8K4|D3DU08|Q7LGE7|Q9Y5P9	Missense_Mutation	SNP	ENST00000303375.5	37	c.197C>T	CCDS11634.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	C	12.59	1.984110	0.35036	.	.	ENSG00000011028	ENST00000303375	T	0.27890	1.64	4.7	4.7	0.59300	Ricin B-related lectin (1);Ricin B lectin (2);	0.522890	0.21494	N	0.073627	T	0.19327	0.0464	L	0.36672	1.1	0.80722	D	1	B	0.25486	0.127	B	0.15870	0.014	T	0.14254	-1.0479	10	0.37606	T	0.19	-2.4707	3.658	0.08228	0.1832:0.5741:0.1535:0.0892	.	66	Q9UBG0	MRC2_HUMAN	L	66	ENSP00000307513:P66L	ENSP00000307513:P66L	P	+	2	0	MRC2	58095719	0.081000	0.21417	0.990000	0.47175	0.956000	0.61745	1.483000	0.35497	2.450000	0.82876	0.561000	0.74099	CCG		0.632	MRC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445152.1			4	70	0	0	0	0.184627	0	4	70					T	60741987	C	T	60741987	3	4	225	1	0	0	0	0	1	0	0	0	9758	652	23	2	203	2	MRC2	17	60741987	Missense_Mutation	SNP	C	TCGA-HC-7820-01A-11D-2114-08		60741987	20453223	43	10399											
KCTD1	284252	broad.mit.edu	37	chr18	24128246	24128246	+	Intron	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctcctcctcgtcctcctcCagccccccacctccgtcctc	2	10	3	26	2	0	0	0	0	0	0	10	0	8	0	12	0	1	0	12	0	0	0			TCGA-HC-7820-01A-11D-2114-08	TCGA-HC-7820-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba24c391-5c1e-47ed-a058-142c8e1feeee	02ca7fd5-cd78-4345-bbbf-2b803c6bdc01	g.chr18:24128246C>T	ENST00000408011.3	-	1	545				KCTD1_ENST00000317932.7_Intron|KCTD1_ENST00000417602.1_Silent_p.L85L|KCTD1_ENST00000580059.1_5'Flank|KCTD1_ENST00000579973.1_Intron	NM_001136205.2	NP_001129677.1	Q719H9	KCTD1_HUMAN	potassium channel tetramerization domain containing 1						negative regulation of transcription, DNA-templated (GO:0045892)|protein homooligomerization (GO:0051260)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			endometrium(2)|large_intestine(3)|lung(3)|ovary(1)|prostate(3)	12	all_cancers(21;0.00191)|Lung NSC(5;0.000698)|all_lung(6;0.0019)|Ovarian(20;0.0848)		Epithelial(2;7.8e-06)|OV - Ovarian serous cystadenocarcinoma(3;9.02e-06)|all cancers(3;3.37e-05)			cgtcctcctccagccccccac	0.697																																						ENST00000417602.1																			0				endometrium(2)|large_intestine(3)|lung(3)|ovary(1)|prostate(3)	12						c.(253-255)ctG>ctA		potassium channel tetramerization domain containing 1							2	4	4					18																	24128246		593	1465	2058	SO:0001627	intron_variant	284252				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|voltage-gated potassium channel complex	transcription corepressor activity|transcription factor binding|voltage-gated potassium channel activity	g.chr18:24128246C>T	AF542549	CCDS11888.1	18q11.2	2013-09-20	2013-06-20		ENSG00000134504	ENSG00000134504			18249	protein-coding gene	gene with protein product		613420	"potassium channel tetramerisation domain containing 1"	C18orf5			Standard	NM_001142730		Approved		uc010xbj.3	Q719H9	OTTHUMG00000131947	ENST00000408011.3:c.14+608G>A	18.37:g.24128246C>T						KCTD1_ENST00000408011.3_Intron|KCTD1_ENST00000579973.1_Intron|KCTD1_ENST00000317932.7_Intron	p.L85L	NM_001142730.2	NP_001136202.1	Q719H9	KCTD1_HUMAN	Epithelial(2;7.8e-06)|OV - Ovarian serous cystadenocarcinoma(3;9.02e-06)|all cancers(3;3.37e-05)		1	254	-	all_cancers(21;0.00191)|Lung NSC(5;0.000698)|all_lung(6;0.0019)|Ovarian(20;0.0848)		0			BTB.		A8K1F5	Silent	SNP	ENST00000408011.3	37	c.255G>A	CCDS11888.1																																																																																				0.697	KCTD1-003	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000446265.1	XM_209091		2	2	0	0	0	0.115264	0	2	2					T	24128246	C	T	24128246	1	4	225	0	1	0	0	0	0	0	0	0	8096	581	21	3		3	KCTD1	18	24128246	Intron	SNP	C	TCGA-HC-7820-01A-11D-2114-08		24128246	53949002	44	10400											
SIPA1L3	23094	broad.mit.edu	37	chr19	38655514	38655514	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agcacccccacgggactggcGgggggcagccgagacccacc	8	1	15	17	3	0	1	0	0	0	1	0	3	0	2	5	5	2	2	5	5	0	0	rs572759177		TCGA-HC-7820-01A-11D-2114-08	TCGA-HC-7820-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba24c391-5c1e-47ed-a058-142c8e1feeee	02ca7fd5-cd78-4345-bbbf-2b803c6bdc01	g.chr19:38655514G>A	ENST00000222345.6	+	15	4685	c.4176G>A	c.(4174-4176)gcG>gcA	p.A1392A		NM_015073.1	NP_055888.1	O60292	SI1L3_HUMAN	signal-induced proliferation-associated 1 like 3	1392					hematopoietic progenitor cell differentiation (GO:0002244)|regulation of small GTPase mediated signal transduction (GO:0051056)	extracellular space (GO:0005615)	GTPase activator activity (GO:0005096)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			CGGGACTGGCGGGGGGCAGCC	0.657													G|||	1	0.000199681	0	0	5008	,	,		13383	0.001		0	False		,,,				2504	0					ENST00000222345.6																			0				NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59						c.(4174-4176)gcG>gcA		signal-induced proliferation-associated 1 like 3							11	12	12					19																	38655514		1897	3825	5722	SO:0001819	synonymous_variant	23094				regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity	g.chr19:38655514G>A	AB011117	CCDS33007.1	19q13.13	2008-02-05			ENSG00000105738	ENSG00000105738			23801	protein-coding gene	gene with protein product							Standard	XM_005258671		Approved	KIAA0545	uc002ohk.3	O60292	OTTHUMG00000073727	ENST00000222345.6:c.4176G>A	19.37:g.38655514G>A							p.A1392A	NM_015073.1	NP_055888.1	O60292	SI1L3_HUMAN	Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)		15	4685	+			1392					Q2TV87	Silent	SNP	ENST00000222345.6	37	c.4176G>A	CCDS33007.1																																																																																				0.657	SIPA1L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000156294.2	XM_032278		10	26	0	0	0	0.411799	0	10	26					A	38655514	G	A	38655514	2	1	225	1	0	0	0	0	0	0	0	1	14331	1103	39	2		2	SIPA1L3	19	38655514	Silent	SNP	G	TCGA-HC-7820-01A-11D-2114-08		38655514	20473469	45	10401											
C19orf33	64073	broad.mit.edu	37	chr19	38795581	38795583	+	In_Frame_Del	DEL	AAG	AAG	-																															agggcaagaaggagaagggcAagaagaaggaggctccccac																								rs201974576	byFrequency	TCGA-HC-7820-01A-11D-2114-08	TCGA-HC-7820-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba24c391-5c1e-47ed-a058-142c8e1feeee	02ca7fd5-cd78-4345-bbbf-2b803c6bdc01	g.chr19:38795581_38795583delAAG	ENST00000301246.5	+	4	399_401	c.298_300delAAG	c.(298-300)aagdel	p.K102del	C19orf33_ENST00000588605.1_3'UTR	NM_033520.1	NP_277055.1	Q9GZP8	IMUP_HUMAN	chromosome 19 open reading frame 33	102						nucleus (GO:0005634)						all_cancers(60;1.07e-06)		Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			ggagaagggcaagaagaaggagG	0.596														137	0.0273562	0.0401	0.0159	5008	,	,		18521	0		0.0378	False		,,,				2504	0.0358					ENST00000301246.5																			0											c.(298-300)del		chromosome 19 open reading frame 33			,,,,,,,	194,4058		3,188,1935					,,,,,,,	-6.4	0		dbSNP_114	84	327,7919		6,315,3802	no	utr-3,coding,utr-3,utr-3,utr-3,utr-3,utr-3,utr-3	C19orf33,YIF1B	NM_033557.3,NM_033520.1,NM_001145463.1,NM_001145462.1,NM_001145461.1,NM_001039673.2,NM_001039672.2,NM_001039671.2	,,,,,,,	9,503,5737	A1A1,A1R,RR		3.9656,4.5626,4.1687	,,,,,,,	,,,,,,,		521,11977				SO:0001651	inframe_deletion	64073					nucleus		g.chr19:38795581_38795583delAAG	AF213678	CCDS12511.1	19q13.2	2012-10-26			ENSG00000167644	ENSG00000167644			16668	protein-coding gene	gene with protein product	"immortalization-upregulated protein", "HAI-2 related small protein", "hepatocyte growth factor activator inhibitor type 2-related small protein"					11080599	Standard	NM_033520		Approved	IMUP-1, IMUP-2, H2RSP, IMUP	uc002ohu.1	Q9GZP8	OTTHUMG00000181894	ENST00000301246.5:c.298_300delAAG	19.37:g.38795587_38795589delAAG	ENSP00000301246:p.Lys102del					C19orf33_ENST00000588605.1_3'UTR	p.K102del	NM_033520.1	NP_277055.1	Q9GZP8	IMUP_HUMAN	Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)		4	399_401	+	all_cancers(60;1.07e-06)		102					Q0P6G2|Q96H58|Q9HCR4	In_Frame_Del	DEL	ENST00000301246.5	37	c.298_300delAAG	CCDS12511.1																																																																																				0.596	C19orf33-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000458168.1	NM_033520		9	5						9	5	---	---	---	---	-	38795583	AAG	-	38795581	7	5	225	1	0	1	0	1	0	0	0	0	1919	131	5	0	312	0	C19orf33	19	38795581	In_Frame_Del	DEL	AAG	TCGA-HC-7820-01A-11D-2114-08	140067	38795581	20333402	46	10402											
CYP2S1	29785	broad.mit.edu	37	chr19	41704492	41704492	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccgtggtccgggcagctggtGgtaccctgctgggagtcagc	4	8	17	12	2	1	0	1	0	0	0	2	1	2	1	3	5	4	4	3	5	1	1			TCGA-HC-7820-01A-11D-2114-08	TCGA-HC-7820-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba24c391-5c1e-47ed-a058-142c8e1feeee	02ca7fd5-cd78-4345-bbbf-2b803c6bdc01	g.chr19:41704492G>C	ENST00000310054.4	+	4	835	c.619G>C	c.(619-621)Ggt>Cgt	p.G207R	CYP2S1_ENST00000542619.1_Intron	NM_030622.6	NP_085125.1	Q96SQ9	CP2S1_HUMAN	cytochrome P450, family 2, subfamily S, polypeptide 1	207					small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			breast(1)|endometrium(3)|large_intestine(3)|lung(5)|skin(2)	14						GGCAGCTGGTGGTACCCTGCT	0.627																																						ENST00000310054.4																			0				breast(1)|endometrium(3)|large_intestine(3)|lung(5)|skin(2)	14						c.(619-621)Ggt>Cgt		cytochrome P450, family 2, subfamily S, polypeptide 1							80	75	77					19																	41704492		2203	4300	6503	SO:0001583	missense	29785				xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|retinoic acid 4-hydroxylase activity	g.chr19:41704492G>C	AA301039	CCDS12573.1	19q13.2	2013-11-11	2003-01-14		ENSG00000167600	ENSG00000167600		"Cytochrome P450s"	15654	protein-coding gene	gene with protein product		611529	"cytochrome P450, subfamily IIS, polypeptide 1"			11181079	Standard	NM_030622		Approved		uc002opw.3	Q96SQ9	OTTHUMG00000182721	ENST00000310054.4:c.619G>C	19.37:g.41704492G>C	ENSP00000308032:p.Gly207Arg					CYP2S1_ENST00000542619.1_Intron	p.G207R	NM_030622.6	NP_085125.1	Q96SQ9	CP2S1_HUMAN			4	835	+			207					Q9BZ66	Missense_Mutation	SNP	ENST00000310054.4	37	c.619G>C	CCDS12573.1	.	.	.	.	.	.	.	.	.	.	g	14.18	2.457292	0.43634	.	.	ENSG00000167600	ENST00000301173;ENST00000310054	T	0.68181	-0.31	5.06	4.02	0.46733	.	0.540152	0.19347	U	0.116514	T	0.65637	0.2710	N	0.21097	0.63	0.19945	N	0.999949	D	0.59767	0.986	P	0.61132	0.884	T	0.56366	-0.7991	10	0.54805	T	0.06	.	9.5264	0.39167	0.099:0.0:0.901:0.0	.	207	Q96SQ9	CP2S1_HUMAN	R	207	ENSP00000308032:G207R	ENSP00000301173:G207R	G	+	1	0	CYP2S1	46396332	0.426000	0.25506	0.006000	0.13384	0.714000	0.41099	2.316000	0.43761	1.134000	0.42165	0.306000	0.20318	GGT		0.627	CYP2S1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463287.1			8	114	0	0	0	0.335167	0	8	114					C	41704492	G	C	41704492	3	2	225	1	0	0	0	0	1	0	0	0	4174	1348	47	5	633	5	CYP2S1	19	41704492	Missense_Mutation	SNP	G	TCGA-HC-7820-01A-11D-2114-08	2908911	41704492	17424491	47	10403											
PLEKHA4	57664	broad.mit.edu	37	chr19	49364696	49364696	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctcggggggctcccggccCatctggtctaatattgtagc	5	10	12	14	2	2	0	0	0	2	0	4	0	3	0	3	5	1	2	3	5	3	4			TCGA-HC-7820-01A-11D-2114-08	TCGA-HC-7820-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba24c391-5c1e-47ed-a058-142c8e1feeee	02ca7fd5-cd78-4345-bbbf-2b803c6bdc01	g.chr19:49364696C>A	ENST00000263265.6	-	5	883	c.328G>T	c.(328-330)Ggg>Tgg	p.G110W	PLEKHA4_ENST00000355496.5_Missense_Mutation_p.G110W|PLEKHA4_ENST00000596713.1_5'Flank	NM_020904.2	NP_065955.2	Q9H4M7	PKHA4_HUMAN	pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 4	110	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.					cytoplasm (GO:0005737)|membrane (GO:0016020)	1-phosphatidylinositol binding (GO:0005545)			NS(1)|breast(5)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(3)|skin(2)|urinary_tract(2)	30		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;0.000108)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.00027)|all cancers(93;0.00084)|GBM - Glioblastoma multiforme(486;0.0244)|Epithelial(262;0.0364)		GCTCCCGGCCCATCTGGTCTA	0.612																																						ENST00000263265.6																			0				NS(1)|breast(5)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(3)|skin(2)|urinary_tract(2)	30						c.(328-330)Ggg>Tgg		pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 4							48	61	56					19																	49364696		2203	4300	6503	SO:0001583	missense	0					cytoplasm|membrane	1-phosphatidylinositol binding	g.chr19:49364696C>A	AY007233	CCDS12737.1, CCDS54291.1	19q13.33	2013-01-10	2002-01-14			ENSG00000105559		"Pleckstrin homology (PH) domain containing"	14339	protein-coding gene	gene with protein product		607769	"pleckstrin homology domain-containing, family A (phosphoinositide binding specific) member 4"			11001876	Standard	NM_020904		Approved	PEPP1	uc002pkx.3	Q9H4M7		ENST00000263265.6:c.328G>T	19.37:g.49364696C>A	ENSP00000263265:p.Gly110Trp					PLEKHA4_ENST00000355496.5_Missense_Mutation_p.G110W	p.G110W	NM_020904.2	NP_065955.2	Q9H4M7	PKHA4_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00027)|all cancers(93;0.00084)|GBM - Glioblastoma multiforme(486;0.0244)|Epithelial(262;0.0364)	5	883	-		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;0.000108)|all_neural(266;0.0506)|Ovarian(192;0.113)	110			PH.		Q8N4M8|Q8N658	Missense_Mutation	SNP	ENST00000263265.6	37	c.328G>T	CCDS12737.1	.	.	.	.	.	.	.	.	.	.	c	19.79	3.892927	0.72524	.	.	ENSG00000105559	ENST00000263265;ENST00000355496	T;T	0.75821	-0.97;-0.97	4.56	4.56	0.56223	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.424077	0.22724	N	0.056413	D	0.86698	0.5995	M	0.83603	2.65	0.32589	N	0.5275	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.995	D	0.89775	0.3957	10	0.87932	D	0	.	15.2385	0.73450	0.0:1.0:0.0:0.0	.	110;110	Q9H4M7-2;Q9H4M7	.;PKHA4_HUMAN	W	110	ENSP00000263265:G110W;ENSP00000347683:G110W	ENSP00000263265:G110W	G	-	1	0	PLEKHA4	54056508	0.881000	0.30235	1.000000	0.80357	0.992000	0.81027	3.609000	0.54117	2.548000	0.85928	0.457000	0.33378	GGG		0.612	PLEKHA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466216.1			7	78	1	0	0.0477658	0.307466	0.0532772	7	78					A	49364696	C	A	49364696	3	1	225	1	0	0	0	0	1	0	0	0	12058	594	21	5	2075	5	PLEKHA4	19	49364696	Missense_Mutation	SNP	C	TCGA-HC-7820-01A-11D-2114-08	7660204	49364696	9764287	48	10404											
MYH9	4627	broad.mit.edu	37	chr22	36681972	36681972	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccgctcctgctgggcctggcGcttggcacgctccgcggctg	1	8	15	17	5	0	0	0	0	0	0	2	0	2	0	4	4	1	6	4	4	0	1	rs372871106		TCGA-HC-7820-01A-11D-2114-08	TCGA-HC-7820-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba24c391-5c1e-47ed-a058-142c8e1feeee	02ca7fd5-cd78-4345-bbbf-2b803c6bdc01	g.chr22:36681972G>A	ENST00000216181.5	-	36	5319	c.5089C>T	c.(5089-5091)Cgc>Tgc	p.R1697C	MYH9_ENST00000475726.1_5'UTR	NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle	1697					actin cytoskeleton reorganization (GO:0031532)|actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|angiogenesis (GO:0001525)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood vessel endothelial cell migration (GO:0043534)|cytokinesis (GO:0000910)|establishment of meiotic spindle localization (GO:0051295)|establishment of T cell polarity (GO:0001768)|in utero embryonic development (GO:0001701)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|meiotic spindle organization (GO:0000212)|membrane protein ectodomain proteolysis (GO:0006509)|monocyte differentiation (GO:0030224)|myoblast fusion (GO:0007520)|platelet aggregation (GO:0070527)|platelet formation (GO:0030220)|protein transport (GO:0015031)|regulation of cell shape (GO:0008360)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|uropod organization (GO:0032796)	actin cytoskeleton (GO:0015629)|actomyosin (GO:0042641)|actomyosin contractile ring (GO:0005826)|cell leading edge (GO:0031252)|cell-cell adherens junction (GO:0005913)|cleavage furrow (GO:0032154)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|membrane (GO:0016020)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ruffle (GO:0001726)|spindle (GO:0005819)|stress fiber (GO:0001725)|uropod (GO:0001931)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|motor activity (GO:0003774)|poly(A) RNA binding (GO:0044822)|protein anchor (GO:0043495)|protein homodimerization activity (GO:0042803)			NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						TGGGCCTGGCGCTTGGCACGC	0.652			T	ALK	ALCL		"Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"		Hereditary Macrothrombocytopenia, MYH9-associated																													ENST00000216181.5				Dom	yes		22	22q13.1	4627	T	"myosin, heavy polypeptide 9, non-muscle"	yes	"Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"	L	ALK		ALCL		0				NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						c.(5089-5091)Cgc>Tgc		myosin, heavy chain 9, non-muscle			CYS/ARG	0,4406		0,0,2203	42	41	42		5089	3.9	1	22		42	1,8599	1.2+/-3.3	0,1,4299	no	missense	MYH9	NM_002473.4	180	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	1697/1961	36681972	1,13005	2203	4300	6503	SO:0001583	missense	4627	Hereditary Macrothrombocytopenia, MYH9-associated	Familial Cancer Database	MYHIIA syndrome, incl. Fechtner Syndrome, FTNS, and May-Hegglin Anomaly, MHA	actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity	g.chr22:36681972G>A		CCDS13927.1	22q13.1	2014-09-17	2006-09-29		ENSG00000100345	ENSG00000100345		"Myosins / Myosin superfamily : Class II"	7579	protein-coding gene	gene with protein product	"nonmuscle myosin heavy chain II-A"	160775	"myosin, heavy polypeptide 9, non-muscle"	DFNA17		1860190, 11023810	Standard	NM_002473		Approved	NMMHCA, NMHC-II-A, MHA, FTNS, EPSTS	uc003apg.3	P35579	OTTHUMG00000030429	ENST00000216181.5:c.5089C>T	22.37:g.36681972G>A	ENSP00000216181:p.Arg1697Cys					MYH9_ENST00000475726.1_5'UTR	p.R1697C	NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN			36	5319	-			1697					A8K6E4|O60805|Q60FE2|Q86T83	Missense_Mutation	SNP	ENST00000216181.5	37	c.5089C>T	CCDS13927.1	.	.	.	.	.	.	.	.	.	.	G	19.12	3.766742	0.69878	0.0	1.16E-4	ENSG00000100345	ENST00000337818;ENST00000397231;ENST00000216181	D	0.82081	-1.57	4.96	3.93	0.45458	Myosin tail (1);	0.000000	0.85682	D	0.000000	D	0.91246	0.7241	M	0.89214	3.015	0.80722	D	1	D	0.89917	1.0	D	0.67725	0.953	D	0.92816	0.6268	10	0.87932	D	0	.	13.665	0.62389	0.0768:0.0:0.9232:0.0	.	1697	P35579	MYH9_HUMAN	C	1119;299;1697	ENSP00000216181:R1697C	ENSP00000216181:R1697C	R	-	1	0	MYH9	35011918	1.000000	0.71417	1.000000	0.80357	0.649000	0.38597	4.362000	0.59467	2.294000	0.77228	0.306000	0.20318	CGC		0.652	MYH9-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000259110.3	NM_002473		7	52	0	0	0	0.307466	0	7	52					A	36681972	G	A	36681972	3	1	225	1	0	0	0	0	1	0	0	0	10042	1087	38	1	817	1	MYH9	22	36681972	Missense_Mutation	SNP	G	TCGA-HC-7820-01A-11D-2114-08		36681972	14622594	49	10405											
GJB5	2709	broad.mit.edu	37	chr1	35223743	35223743	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ccgagaccatgtgaagaaaaCcatcttgtgaggggctgcct	11	8	12	10	1	1	4	0	2	1	2	1	5	1	4	4	2	2	1	4	2	3	1			TCGA-HC-7821-01A-12D-2114-08	TCGA-HC-7821-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ec36148-fac7-4583-b63e-6e055faa5d8c	f7dc706c-fd50-4f2b-8b98-db4e3e844012	g.chr1:35223743C>T	ENST00000338513.1	+	2	985	c.812C>T	c.(811-813)aCc>aTc	p.T271I	GJB4_ENST00000339480.1_5'Flank	NM_005268.3	NP_005259.1	O95377	CXB5_HUMAN	gap junction protein, beta 5, 31.1kDa	271					cell communication (GO:0007154)|epidermis development (GO:0008544)|labyrinthine layer morphogenesis (GO:0060713)|spongiotrophoblast differentiation (GO:0060708)	connexon complex (GO:0005922)|integral component of membrane (GO:0016021)				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|stomach(1)	10		Myeloproliferative disorder(586;0.0393)				GTGAAGAAAACCATCTTGTGA	0.567																																						ENST00000338513.1																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|stomach(1)	10						c.(811-813)aCc>aTc		gap junction protein, beta 5, 31.1kDa							47	46	47					1																	35223743		2203	4300	6503	SO:0001583	missense	2709				cell communication|epidermis development	connexon complex|integral to membrane		g.chr1:35223743C>T	BC004379	CCDS382.1	1p34.3	2008-05-14	2007-11-06		ENSG00000189280	ENSG00000189280		"Ion channels / Gap junction proteins (connexins)"	4287	protein-coding gene	gene with protein product	"connexin 31.1"	604493	"gap junction protein, beta 5 (connexin 31.1)", "gap junction protein, beta 5"			9843209	Standard	NM_005268		Approved	CX31.1	uc001bxu.4	O95377	OTTHUMG00000004053	ENST00000338513.1:c.812C>T	1.37:g.35223743C>T	ENSP00000340811:p.Thr271Ile						p.T271I	NM_005268.3	NP_005259.1	O95377	CXB5_HUMAN			2	985	+		Myeloproliferative disorder(586;0.0393)	271					Q9UPA3	Missense_Mutation	SNP	ENST00000338513.1	37	c.812C>T	CCDS382.1	.	.	.	.	.	.	.	.	.	.	C	17.47	3.398565	0.62177	.	.	ENSG00000189280	ENST00000338513	D	0.97959	-4.63	5.46	5.46	0.80206	.	0.280531	0.36303	N	0.002662	D	0.98349	0.9452	M	0.72894	2.215	0.41982	D	0.990809	D	0.76494	0.999	D	0.66716	0.946	D	0.99675	1.0997	10	0.87932	D	0	.	16.0293	0.80567	0.0:1.0:0.0:0.0	.	271	O95377	CXB5_HUMAN	I	271	ENSP00000340811:T271I	ENSP00000340811:T271I	T	+	2	0	GJB5	34996330	0.982000	0.34865	0.939000	0.37840	0.303000	0.27691	3.146000	0.50631	2.557000	0.86248	0.563000	0.77884	ACC		0.567	GJB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011561.1	NM_005268		19	21	0	0	0	1	0	19	21					T	35223743	C	T	35223743	3	4	226	1	0	0	0	0	1	0	0	0	6411	507	18	3	814	3	GJB5	1	35223743	Missense_Mutation	SNP	C	TCGA-HC-7821-01A-12D-2114-08		35223743	214026878	1	10406											
THRAP3	9967	broad.mit.edu	37	chr1	36769470	36769470	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ccgaggagcctttcctcgggGtcggggccggttcatgttcc	3	10	15	13	4	1	0	1	0	0	0	5	2	3	1	5	6	1	2	5	6	0	3			TCGA-HC-7821-01A-12D-2114-08	TCGA-HC-7821-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ec36148-fac7-4583-b63e-6e055faa5d8c	f7dc706c-fd50-4f2b-8b98-db4e3e844012	g.chr1:36769470G>A	ENST00000354618.5	+	12	2944	c.2720G>A	c.(2719-2721)gGt>gAt	p.G907D	SH3D21_ENST00000426732.2_5'Flank|SH3D21_ENST00000453908.2_5'Flank|THRAP3_ENST00000469141.2_Missense_Mutation_p.G907D	NM_005119.3	NP_005110.2	Q9Y2W1	TR150_HUMAN	thyroid hormone receptor associated protein 3	907	Required for mRNA decay activity.				androgen receptor signaling pathway (GO:0030521)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|mRNA processing (GO:0006397)|mRNA stabilization (GO:0048255)|nuclear-transcribed mRNA catabolic process (GO:0000956)|positive regulation of mRNA splicing, via spliceosome (GO:0048026)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing (GO:0008380)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|phosphoprotein binding (GO:0051219)|poly(A) RNA binding (GO:0044822)|receptor activity (GO:0004872)|RNA polymerase II transcription cofactor activity (GO:0001104)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(5)|stomach(1)	37		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				TTTCCTCGGGGTCGGGGCCGG	0.597			T	USP6	aneurysmal bone cysts																																Pancreas(129;785 1795 20938 23278 32581)	ENST00000354618.5				Dom	yes		1	1p34.3	9967	T	thyroid hormone receptor associated protein 3 (TRAP150)			M	USP6		aneurysmal bone cysts		0				breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(5)|stomach(1)	37						c.(2719-2721)gGt>gAt		thyroid hormone receptor associated protein 3							50	56	54					1																	36769470		2203	4300	6503	SO:0001583	missense	9967				androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ATP binding|ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	g.chr1:36769470G>A	AF117756	CCDS405.1	1p34.3	2008-02-05			ENSG00000054118	ENSG00000054118			22964	protein-coding gene	gene with protein product		603809					Standard	NM_005119		Approved	TRAP150	uc001cae.4	Q9Y2W1	OTTHUMG00000007866	ENST00000354618.5:c.2720G>A	1.37:g.36769470G>A	ENSP00000346634:p.Gly907Asp					THRAP3_ENST00000469141.2_Missense_Mutation_p.G907D	p.G907D	NM_005119.3	NP_005110.2	Q9Y2W1	TR150_HUMAN			12	2944	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)	907					D3DPS5|Q5VTK6	Missense_Mutation	SNP	ENST00000354618.5	37	c.2720G>A	CCDS405.1	.	.	.	.	.	.	.	.	.	.	G	15.58	2.876029	0.51695	.	.	ENSG00000054118	ENST00000354618;ENST00000469141	T;T	0.15834	2.39;2.39	4.85	4.85	0.62838	.	0.000000	0.64402	D	0.000003	T	0.21841	0.0526	L	0.35854	1.095	0.48040	D	0.999577	B	0.31209	0.313	B	0.39706	0.307	T	0.07539	-1.0767	10	0.87932	D	0	-6.5844	17.3199	0.87233	0.0:0.0:1.0:0.0	.	907	Q9Y2W1	TR150_HUMAN	D	907	ENSP00000346634:G907D;ENSP00000433825:G907D	ENSP00000346634:G907D	G	+	2	0	THRAP3	36542057	1.000000	0.71417	0.986000	0.45419	0.992000	0.81027	6.983000	0.76180	2.411000	0.81874	0.563000	0.77884	GGT		0.597	THRAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021688.2	NM_005119		12	74	0	0	0	1	0	12	74					A	36769470	G	A	36769470	3	1	226	1	0	0	0	0	1	0	0	0	15871	1261	44	3	2758	3	THRAP3	1	36769470	Missense_Mutation	SNP	G	TCGA-HC-7821-01A-12D-2114-08	1545727	36769470	212481151	2	10407											
BCL9	607	broad.mit.edu	37	chr1	147084929	147084929	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agggcaaggggaaaagggagCgaagtatttccgccgactcc	12	5	15	9	3	0	0	0	0	0	0	2	4	2	2	3	4	1	2	3	4	5	2			TCGA-HC-7821-01A-12D-2114-08	TCGA-HC-7821-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ec36148-fac7-4583-b63e-6e055faa5d8c	f7dc706c-fd50-4f2b-8b98-db4e3e844012	g.chr1:147084929C>T	ENST00000234739.3	+	5	1041	c.301C>T	c.(301-303)Cga>Tga	p.R101*	BCL9_ENST00000473292.1_Intron	NM_004326.2	NP_004317.2	O00512	BCL9_HUMAN	B-cell CLL/lymphoma 9	101					canonical Wnt signaling pathway (GO:0060070)|myotube differentiation involved in skeletal muscle regeneration (GO:0014908)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell maintenance (GO:0035019)	cis-Golgi network (GO:0005801)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)				breast(1)|large_intestine(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	7	all_hematologic(923;0.115)					GAAAAGGGAGCGAAGTATTTC	0.532			T	"IGH@, IGL@"	B-ALL																																	ENST00000234739.3				Dom	yes		1	1q21	607	T	B-cell CLL/lymphoma 9			L	"IGH@, IGL@"		B-ALL		0				breast(1)|large_intestine(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	7						c.(301-303)Cga>Tga		B-cell CLL/lymphoma 9							49	54	52					1																	147084929		2203	4300	6503	SO:0001587	stop_gained	607				Wnt receptor signaling pathway	nucleus	protein binding	g.chr1:147084929C>T	Y13620	CCDS30833.1	1q21	2008-02-05			ENSG00000116128	ENSG00000116128			1008	protein-coding gene	gene with protein product		602597				9490669	Standard	NM_004326		Approved		uc001epq.3	O00512	OTTHUMG00000014031	ENST00000234739.3:c.301C>T	1.37:g.147084929C>T	ENSP00000234739:p.Arg101*					BCL9_ENST00000473292.1_Intron	p.R101*	NM_004326.2	NP_004317.2	O00512	BCL9_HUMAN			5	1041	+	all_hematologic(923;0.115)		101					Q5T489	Nonsense_Mutation	SNP	ENST00000234739.3	37	c.301C>T	CCDS30833.1	.	.	.	.	.	.	.	.	.	.	C	43	10.475636	0.99412	.	.	ENSG00000116128	ENST00000234739	.	.	.	5.4	4.43	0.53597	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.4576	11.3705	0.49697	0.3448:0.6552:0.0:0.0	.	.	.	.	X	101	.	ENSP00000234739:R101X	R	+	1	2	BCL9	145551553	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.131000	0.64751	2.797000	0.96272	0.655000	0.94253	CGA		0.532	BCL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039468.1	NM_004326		4	77	0	0	0	1	0	4	77					T	147084929	C	T	147084929	4	4	226	1	0	0	0	0	0	1	0	0	1381	760	27	1	307	1	BCL9	1	147084929	Nonsense_Mutation	SNP	C	TCGA-HC-7821-01A-12D-2114-08	110315459	147084929	102165692	3	10408											
TARS2	80222	broad.mit.edu	37	chr1	150471026	150471026	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggcgggaactgcccctgcgActagctgactttggggctct	5	10	14	12	2	1	1	0	1	1	0	1	3	1	2	2	4	4	2	2	4	2	2			TCGA-HC-7821-01A-12D-2114-08	TCGA-HC-7821-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ec36148-fac7-4583-b63e-6e055faa5d8c	f7dc706c-fd50-4f2b-8b98-db4e3e844012	g.chr1:150471026A>G	ENST00000369064.3	+	11	1321	c.1287A>G	c.(1285-1287)cgA>cgG	p.R429R	TARS2_ENST00000369054.2_Silent_p.R299R|TARS2_ENST00000463555.1_3'UTR|TARS2_ENST00000438568.2_3'UTR|TARS2_ENST00000606933.1_Silent_p.R347R	NM_025150.3	NP_079426.2	Q9BW92	SYTM_HUMAN	threonyl-tRNA synthetase 2, mitochondrial (putative)	429					gene expression (GO:0010467)|mitochondrial threonyl-tRNA aminoacylation (GO:0070159)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|threonine-tRNA ligase activity (GO:0004829)			cervix(1)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	35	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.51e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)		L-Threonine(DB00156)	TGCCCCTGCGACTAGCTGACT	0.647																																						ENST00000369064.3																			0				cervix(1)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	35						c.(1285-1287)cgA>cgG		threonyl-tRNA synthetase 2, mitochondrial (putative)	L-Threonine(DB00156)						53	55	54					1																	150471026		2203	4300	6503	SO:0001819	synonymous_variant	80222				threonyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|threonine-tRNA ligase activity	g.chr1:150471026A>G	BC007824	CCDS952.1, CCDS60251.1, CCDS60252.1	1q21.2	2012-10-26	2007-02-23	2007-02-23	ENSG00000143374	ENSG00000143374	6.1.1.3	"Aminoacyl tRNA synthetases / Class II"	30740	protein-coding gene	gene with protein product	"threonine tRNA ligase 2, mitochondrial"	612805	"threonyl-tRNA synthetase-like 1"	TARSL1			Standard	NM_001271895		Approved	FLJ12528	uc001euq.4	Q9BW92	OTTHUMG00000012809	ENST00000369064.3:c.1287A>G	1.37:g.150471026A>G						TARS2_ENST00000463555.1_3'UTR|TARS2_ENST00000438568.2_3'UTR|TARS2_ENST00000369054.2_Silent_p.R299R|TARS2_ENST00000606933.1_Silent_p.R347R	p.R429R	NM_025150.3	NP_079426.2	Q9BW92	SYTM_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.51e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)		11	1321	+	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		429					Q53GW7|Q96I50|Q9H9V2	Silent	SNP	ENST00000369064.3	37	c.1287A>G	CCDS952.1																																																																																				0.647	TARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000035847.1	NM_025150		5	84	0	0	0	1	0	5	84					G	150471026	A	G	150471026	2	3	226	1	0	0	0	0	0	0	0	1	15557	262	10	4		4	TARS2	1	150471026	Silent	SNP	A	TCGA-HC-7821-01A-12D-2114-08	3386097	150471026	98779595	4	10409											
PLEKHA6	22874	broad.mit.edu	37	chr1	204228776	204228776	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	catcaccctcccctcgagtcTtggcctctggctcaggctta	5	11	8	17	1	4	0	2	0	2	0	6	1	5	0	4	3	0	2	4	3	1	2			TCGA-HC-7821-01A-12D-2114-08	TCGA-HC-7821-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ec36148-fac7-4583-b63e-6e055faa5d8c	f7dc706c-fd50-4f2b-8b98-db4e3e844012	g.chr1:204228776T>C	ENST00000272203.3	-	8	933	c.617A>G	c.(616-618)aAg>aGg	p.K206R	PLEKHA6_ENST00000414478.1_Missense_Mutation_p.K226R|PLEKHA6_ENST00000485632.1_5'Flank	NM_014935.4	NP_055750.2	Q9Y2H5	PKHA6_HUMAN	pleckstrin homology domain containing, family A member 6	206	Pro-rich.									breast(2)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_cancers(21;0.0222)|Breast(84;0.179)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.229)			CCCTCGAGTCTTGGCCTCTGG	0.612																																						ENST00000272203.3																			0				breast(2)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53						c.(616-618)aAg>aGg		pleckstrin homology domain containing, family A member 6							61	58	59					1																	204228776		2203	4300	6503	SO:0001583	missense	22874							g.chr1:204228776T>C	AB023186	CCDS1444.1	1q32	2013-01-10			ENSG00000143850	ENSG00000143850		"Pleckstrin homology (PH) domain containing"	17053	protein-coding gene	gene with protein product		607771				11001876	Standard	NM_014935		Approved	PEPP3, KIAA0969	uc001hau.4	Q9Y2H5	OTTHUMG00000036057	ENST00000272203.3:c.617A>G	1.37:g.204228776T>C	ENSP00000272203:p.Lys206Arg					PLEKHA6_ENST00000414478.1_Missense_Mutation_p.K226R	p.K206R	NM_014935.4	NP_055750.2	Q9Y2H5	PKHA6_HUMAN	KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.229)		8	933	-	all_cancers(21;0.0222)|Breast(84;0.179)		206			Pro-rich.		A7MD51|Q5VTI6	Missense_Mutation	SNP	ENST00000272203.3	37	c.617A>G	CCDS1444.1	.	.	.	.	.	.	.	.	.	.	T	12.90	2.075107	0.36566	.	.	ENSG00000143850	ENST00000272203;ENST00000414478	T;T	0.09723	2.95;3.37	5.55	5.55	0.83447	.	0.410761	0.24904	N	0.034662	T	0.19927	0.0479	L	0.48362	1.52	0.36925	D	0.891575	D	0.58268	0.982	D	0.67548	0.952	T	0.13683	-1.0500	10	0.10111	T	0.7	-38.3033	9.8281	0.40925	0.0:0.0775:0.0:0.9225	.	206	Q9Y2H5	PKHA6_HUMAN	R	206;226	ENSP00000272203:K206R;ENSP00000402046:K226R	ENSP00000272203:K206R	K	-	2	0	PLEKHA6	202495399	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.303000	0.51858	2.102000	0.63906	0.459000	0.35465	AAG		0.612	PLEKHA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087889.3	NM_014935		42	43	0	0	0	1	0	42	43					C	204228776	T	C	204228776	3	2	226	1	0	0	0	0	1	0	0	0	12060	1609	56	4	2589	4	PLEKHA6	1	204228776	Missense_Mutation	SNP	T	TCGA-HC-7821-01A-12D-2114-08	53757750	204228776	45021845	5	10410											
CD46	4179	broad.mit.edu	37	chr1	207930436	207930436	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cctactatgagattggtgaaCgagtagattataagtgtaaa	15	12	10	4	1	0	3	0	2	0	2	0	5	0	3	1	1	2	2	1	1	8	7	rs121909590		TCGA-HC-7821-01A-12D-2114-08	TCGA-HC-7821-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ec36148-fac7-4583-b63e-6e055faa5d8c	f7dc706c-fd50-4f2b-8b98-db4e3e844012	g.chr1:207930436C>A	ENST00000358170.2	+	2	331	c.175C>A	c.(175-177)Cga>Aga	p.R59R	CD46_ENST00000480003.1_Silent_p.R59R|CD46_ENST00000469535.1_3'UTR|CD46_ENST00000322918.5_Silent_p.R59R|CD46_ENST00000367042.1_Silent_p.R59R|CD46_ENST00000322875.4_Silent_p.R59R|CD46_ENST00000361067.1_Silent_p.R59R|CD46_ENST00000367047.1_Intron|CD46_ENST00000357714.1_Silent_p.R59R|CD46_ENST00000360212.2_Silent_p.R59R|CD46_ENST00000441839.2_Silent_p.R59R|CD46_ENST00000367041.1_Silent_p.R59R|CD46_ENST00000354848.1_Silent_p.R59R	NM_002389.4	NP_002380.3	P15529	MCP_HUMAN	CD46 molecule, complement regulatory protein	59	Sushi 1. {ECO:0000255|PROSITE- ProRule:PRU00302}.		R -> Q. {ECO:0000269|PubMed:10751138}.		adaptive immune response (GO:0002250)|complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)|interleukin-10 production (GO:0032613)|negative regulation of complement activation (GO:0045916)|negative regulation of gene expression (GO:0010629)|positive regulation of gene expression (GO:0010628)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of memory T cell differentiation (GO:0043382)|positive regulation of regulatory T cell differentiation (GO:0045591)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of transforming growth factor beta production (GO:0071636)|proteolysis (GO:0006508)|regulation of complement activation (GO:0030449)|regulation of Notch signaling pathway (GO:0008593)|sequestering of extracellular ligand from receptor (GO:0035581)|single fertilization (GO:0007338)|T cell mediated immunity (GO:0002456)|viral process (GO:0016032)	basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|inner acrosomal membrane (GO:0002079)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cadherin binding (GO:0045296)|receptor activity (GO:0004872)			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(6)|prostate(1)|skin(1)	19						GATTGGTGAACGAGTAGATTA	0.408																																						ENST00000358170.2																			0				breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(6)|prostate(1)|skin(1)	19	GRCh37	CM062495	CD46	M	rs121909590	c.(175-177)Cga>Aga		CD46 molecule, complement regulatory protein							108	105	106					1																	207930436		2203	4300	6503	SO:0001819	synonymous_variant	4179				complement activation, classical pathway|innate immune response|interspecies interaction between organisms|single fertilization	inner acrosomal membrane|integral to plasma membrane	protein binding|receptor activity	g.chr1:207930436C>A	BC030594	CCDS1479.1, CCDS1480.1, CCDS1481.1, CCDS1482.1, CCDS1484.1, CCDS1485.1, CCDS31008.1, CCDS31009.1	1q32	2014-09-17	2006-03-28	2006-02-09	ENSG00000117335	ENSG00000117335		"CD molecules", "Complement system"	6953	protein-coding gene	gene with protein product		120920	"antigen identified by monoclonal antibody TRA-2-10", "membrane cofactor protein (CD46, trophoblast-lymphocyte cross-reactive antigen)", "CD46 antigen, complement regulatory protein"	MIC10, MCP		7929741	Standard	NM_002389		Approved	TRA2.10, MGC26544, TLX	uc001hgj.3	P15529	OTTHUMG00000036397	ENST00000358170.2:c.175C>A	1.37:g.207930436C>A						CD46_ENST00000322875.4_Silent_p.R59R|CD46_ENST00000441839.2_Silent_p.R59R|CD46_ENST00000367041.1_Silent_p.R59R|CD46_ENST00000322918.5_Silent_p.R59R|CD46_ENST00000480003.1_Silent_p.R59R|CD46_ENST00000367042.1_Silent_p.R59R|CD46_ENST00000469535.1_3'UTR|CD46_ENST00000361067.1_Silent_p.R59R|CD46_ENST00000360212.2_Silent_p.R59R|CD46_ENST00000357714.1_Silent_p.R59R|CD46_ENST00000354848.1_Silent_p.R59R|CD46_ENST00000367047.1_Intron	p.R59R	NM_002389.4	NP_002380.3	P15529	MCP_HUMAN			2	331	+			59		R -> Q.	Sushi 1.		A0T1T0|A0T1T1|A0T1T2|Q15429|Q53GV9|Q5HY94|Q5VWS6|Q5VWS7|Q5VWS8|Q5VWS9|Q5VWT0|Q5VWT1|Q5VWT2|Q6N0A1|Q7Z3R5|Q9NNW2|Q9NNW3|Q9NNW4|Q9UCJ4	Silent	SNP	ENST00000358170.2	37	c.175C>A	CCDS1485.1																																																																																				0.408	CD46-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000088588.3	NM_172361		24	79	1	0	5.35047e-06	1	5.94497e-06	24	79					A	207930436	C	A	207930436	2	1	226	1	0	0	0	0	0	0	0	1	3018	528	19	5		5	CD46	1	207930436	Silent	SNP	C	TCGA-HC-7821-01A-12D-2114-08	3701660	207930436	41320185	6	10411											
WDR26	80232	broad.mit.edu	37	chr1	224621758	224621760	+	In_Frame_Del	DEL	CCG	CCG	-																															cgccgccccctcctcctccaCcgccgccgccgccacctcct																										TCGA-HC-7821-01A-12D-2114-08	TCGA-HC-7821-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ec36148-fac7-4583-b63e-6e055faa5d8c	f7dc706c-fd50-4f2b-8b98-db4e3e844012	g.chr1:224621758_224621760delCCG	ENST00000414423.2	-	1	241_243	c.48_50delCGG	c.(46-51)ggcggt>ggt	p.16_17GG>G	WDR26_ENST00000366852.2_In_Frame_Del_p.16_17GG>G|WDR26_ENST00000295024.6_5'UTR	NM_001115113.2|NM_025160.6	NP_001108585.2|NP_079436.4	Q9H7D7	WDR26_HUMAN	WD repeat domain 26	16						cytoplasm (GO:0005737)|nucleus (GO:0005634)				biliary_tract(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)	18				GBM - Glioblastoma multiforme(131;0.0104)		tcctcctccaccgccgccgccgc	0.729																																						ENST00000414423.2																			0				biliary_tract(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)	18						c.(46-51)ggt>gg		WD repeat domain 26			,	4,1078		1,2,538					,	-5.8	0.8			3	22,2590		9,4,1293	no	coding,coding	WDR26	NM_025160.6,NM_001115113.2	,	10,6,1831	A1A1,A1R,RR		0.8423,0.3697,0.7038	,	,		26,3668				SO:0001651	inframe_deletion	80232					cytoplasm|nucleus		g.chr1:224621758_224621760delCCG	AK024669	CCDS31037.1, CCDS31037.2	1q42.13	2013-01-09			ENSG00000162923	ENSG00000162923		"WD repeat domain containing"	21208	protein-coding gene	gene with protein product	"GID complex subunit 7 homolog (S. cerevisiae)"						Standard	NM_001115113		Approved	FLJ21016, GID7	uc001hop.4	Q9H7D7	OTTHUMG00000037636	ENST00000414423.2:c.48_50delCGG	1.37:g.224621767_224621769delCCG	ENSP00000408108:p.Gly25del					WDR26_ENST00000366852.2_In_Frame_Del_p.GG24del|WDR26_ENST00000295024.6_5'UTR	p.GG24del	NM_001115113.2|NM_025160.6	NP_001108585.2|NP_079436.4	Q9H7D7	WDR26_HUMAN		GBM - Glioblastoma multiforme(131;0.0104)	1	241_243	-			24					A0MNN3|Q4G100|Q59EC4|Q5GLZ9|Q86UY4|Q9H3C2	In_Frame_Del	DEL	ENST00000414423.2	37	c.48_50delCGG	CCDS31037.2																																																																																				0.729	WDR26-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000091760.2	NM_025160		2	4						2	4	---	---	---	---	-	224621760	CCG	-	224621758	7	5	226	1	0	1	0	1	0	0	0	0	17280	507	18	0	1991	0	WDR26	1	224621758	In_Frame_Del	DEL	CCG	TCGA-HC-7821-01A-12D-2114-08	16691322	224621758	24628863	7	10412											
RYR2	6262	broad.mit.edu	37	chr1	237947227	237947227	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttttgtcttgtgcggagaCggatgagaatgaaaccctcg	9	12	12	8	3	2	3	0	2	2	2	3	6	2	4	1	2	2	0	1	2	2	3			TCGA-HC-7821-01A-12D-2114-08	TCGA-HC-7821-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ec36148-fac7-4583-b63e-6e055faa5d8c	f7dc706c-fd50-4f2b-8b98-db4e3e844012	g.chr1:237947227C>A	ENST00000366574.2	+	90	12532	c.12215C>A	c.(12214-12216)aCg>aAg	p.T4072K	RYR2_ENST00000542537.1_Missense_Mutation_p.T4056K|RYR2_ENST00000609119.1_3'UTR|RYR2_ENST00000360064.6_Missense_Mutation_p.T4078K	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4072					BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TGTGCGGAGACGGATGAGAAT	0.512																																						ENST00000366574.2																			0				NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586						c.(12214-12216)aCg>aAg		ryanodine receptor 2 (cardiac)							40	38	39					1																	237947227		2005	4179	6184	SO:0001583	missense	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237947227C>A	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"Ion channels / Ryanodine receptors", "EF-hand domain containing"	10484	protein-coding gene	gene with protein product		180902	"arrhythmogenic right ventricular dysplasia 2"	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.12215C>A	1.37:g.237947227C>A	ENSP00000355533:p.Thr4072Lys					RYR2_ENST00000542537.1_Missense_Mutation_p.T4056K|RYR2_ENST00000360064.6_Missense_Mutation_p.T4078K	p.T4072K	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		90	12532	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	4072					Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	c.12215C>A	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	C	15.10	2.732286	0.48939	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537;ENST00000542288	T;D;T	0.82344	-0.1;-1.6;-0.1	5.85	4.94	0.65067	EF-hand-like domain (1);	0.078014	0.48767	D	0.000178	T	0.81346	0.4803	N	0.25144	0.715	0.80722	D	1	P;D	0.56287	0.941;0.975	P;P	0.53912	0.737;0.57	T	0.82466	-0.0443	10	0.46703	T	0.11	.	14.9927	0.71401	0.0:0.9318:0.0:0.0682	.	1046;4072	B4DGV4;Q92736	.;RYR2_HUMAN	K	4072;4078;4056;1046	ENSP00000355533:T4072K;ENSP00000353174:T4078K;ENSP00000443798:T4056K	ENSP00000353174:T4078K	T	+	2	0	RYR2	236013850	1.000000	0.71417	0.887000	0.34795	0.059000	0.15707	6.051000	0.71072	1.482000	0.48325	-0.140000	0.14226	ACG		0.512	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		5	12	1	0	0.000602214	1	0.00063391	5	12					A	237947227	C	A	237947227	3	1	226	1	0	0	0	0	1	0	0	0	13769	536	19	5	12573	5	RYR2	1	237947227	Missense_Mutation	SNP	C	TCGA-HC-7821-01A-12D-2114-08	13325469	237947227	11303394	8	10413											
ASAP2	8853	broad.mit.edu	37	chr2	9484733	9484733	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acaaggaacatgggaccgagCggaacggcagcctctacaag	14	3	13	11	3	1	0	0	0	1	0	1	4	1	3	2	4	5	1	2	4	5	1			TCGA-HC-7821-01A-12D-2114-08	TCGA-HC-7821-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ec36148-fac7-4583-b63e-6e055faa5d8c	f7dc706c-fd50-4f2b-8b98-db4e3e844012	g.chr2:9484733C>T	ENST00000281419.3	+	10	1262	c.922C>T	c.(922-924)Cgg>Tgg	p.R308W	ASAP2_ENST00000315273.4_Missense_Mutation_p.R308W	NM_003887.2	NP_003878.1	O43150	ASAP2_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 2	308	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				positive regulation of catalytic activity (GO:0043085)|regulation of ARF GTPase activity (GO:0032312)	Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	ARF GTPase activator activity (GO:0008060)|enzyme activator activity (GO:0008047)|zinc ion binding (GO:0008270)	p.R308W(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	36						TGGGACCGAGCGGAACGGCAG	0.458																																						ENST00000281419.3																			1	Substitution - Missense(1)	p.R308W(1)	large_intestine(1)	breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	36						c.(922-924)Cgg>Tgg		ArfGAP with SH3 domain, ankyrin repeat and PH domain 2							97	90	92					2																	9484733		2203	4300	6503	SO:0001583	missense	8853				regulation of ARF GTPase activity	Golgi cisterna membrane|plasma membrane	ARF GTPase activator activity|protein binding|zinc ion binding	g.chr2:9484733C>T	AB007860	CCDS1661.1, CCDS46224.1	2p24	2013-01-10	2008-09-22	2008-09-22	ENSG00000151693	ENSG00000151693		"ADP-ribosylation factor GTPase activating proteins", "Pleckstrin homology (PH) domain containing", "Ankyrin repeat domain containing"	2721	protein-coding gene	gene with protein product	"centaurin, beta 3"	603817	"development and differentiation enhancing factor 2"	DDEF2		10022920, 9455477	Standard	NM_003887		Approved	KIAA0400, PAP, SHAG1, CENTB3	uc002qzh.2	O43150	OTTHUMG00000117485	ENST00000281419.3:c.922C>T	2.37:g.9484733C>T	ENSP00000281419:p.Arg308Trp					ASAP2_ENST00000315273.4_Missense_Mutation_p.R308W	p.R308W	NM_003887.2	NP_003878.1	O43150	ASAP2_HUMAN			10	1262	+			308			PH.		D6W4Y8	Missense_Mutation	SNP	ENST00000281419.3	37	c.922C>T	CCDS1661.1	.	.	.	.	.	.	.	.	.	.	C	17.79	3.475120	0.63737	.	.	ENSG00000151693	ENST00000281419;ENST00000315273	T;T	0.76968	-1.06;-1.06	5.64	3.61	0.41365	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.85682	D	0.000000	D	0.87140	0.6103	M	0.77103	2.36	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.85130	0.989;0.997	D	0.88848	0.3317	10	0.87932	D	0	.	13.7117	0.62672	0.4415:0.5585:0.0:0.0	.	308;308	O43150-2;O43150	.;ASAP2_HUMAN	W	308	ENSP00000281419:R308W;ENSP00000316404:R308W	ENSP00000281419:R308W	R	+	1	2	ASAP2	9402184	1.000000	0.71417	0.902000	0.35471	0.475000	0.33008	2.430000	0.44766	1.309000	0.44985	0.650000	0.86243	CGG		0.458	ASAP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000237522.1	NM_003887		4	79	0	0	0	1	0	4	79					T	9484733	C	T	9484733	3	4	226	1	0	0	0	0	1	0	0	0	1011	759	27	1	960	1	ASAP2	2	9484733	Missense_Mutation	SNP	C	TCGA-HC-7821-01A-12D-2114-08		9484733	233714640	9	10414											
LRP2	4036	broad.mit.edu	37	chr2	170062576	170062576	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgctcttggttttggaacgcGggctatcacagtgcggttag	6	13	14	8	3	2	0	1	0	1	0	2	1	2	1	0	4	3	4	0	4	3	5			TCGA-HC-7821-01A-12D-2114-08	TCGA-HC-7821-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ec36148-fac7-4583-b63e-6e055faa5d8c	f7dc706c-fd50-4f2b-8b98-db4e3e844012	g.chr2:170062576G>A	ENST00000263816.3	-	40	7798	c.7513C>T	c.(7513-7515)Cgc>Tgc	p.R2505C		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	2505					cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)	p.R2505S(1)		biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"	TTTGGAACGCGGGCTATCACA	0.423																																						ENST00000263816.3																			1	Substitution - Missense(1)	p.R2505S(1)	lung(1)	biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315						c.(7513-7515)Cgc>Tgc		low density lipoprotein receptor-related protein 2	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)						157	151	153					2																	170062576		2203	4300	6503	SO:0001583	missense	4036				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding	g.chr2:170062576G>A		CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"Low density lipoprotein receptors"	6694	protein-coding gene	gene with protein product	"megalin"	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.7513C>T	2.37:g.170062576G>A	ENSP00000263816:p.Arg2505Cys						p.R2505C	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN		STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	40	7798	-			2505					O00711|Q16215	Missense_Mutation	SNP	ENST00000263816.3	37	c.7513C>T	CCDS2232.1	.	.	.	.	.	.	.	.	.	.	G	28.8	4.948338	0.92593	.	.	ENSG00000081479	ENST00000263816	D	0.93859	-3.3	6.17	5.3	0.74995	Six-bladed beta-propeller, TolB-like (1);	0.296236	0.43260	D	0.000584	D	0.93609	0.7959	L	0.58810	1.83	0.80722	D	1	D	0.76494	0.999	P	0.49999	0.628	D	0.93947	0.7228	10	0.72032	D	0.01	.	15.327	0.74172	0.0663:0.0:0.9337:0.0	.	2505	P98164	LRP2_HUMAN	C	2505	ENSP00000263816:R2505C	ENSP00000263816:R2505C	R	-	1	0	LRP2	169770822	1.000000	0.71417	0.923000	0.36655	0.885000	0.51271	5.669000	0.68081	1.620000	0.50308	0.655000	0.94253	CGC		0.423	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2	NM_004525		64	107	0	0	0	1	0	64	107					A	170062576	G	A	170062576	3	1	226	1	0	0	0	0	1	0	0	0	8956	1116	39	2	6614	2	LRP2	2	170062576	Missense_Mutation	SNP	G	TCGA-HC-7821-01A-12D-2114-08	160577843	170062576	73136797	10	10415											
TTN	7273	broad.mit.edu	37	chr2	179438180	179438180	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agttgtcacttcagggttttTgggcggatcagggggtccat	6	13	15	7	1	3	0	3	0	0	0	4	1	4	1	1	5	0	2	1	5	0	4			TCGA-HC-7821-01A-12D-2114-08	TCGA-HC-7821-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ec36148-fac7-4583-b63e-6e055faa5d8c	f7dc706c-fd50-4f2b-8b98-db4e3e844012	g.chr2:179438180T>G	ENST00000591111.1	-	276	67980	c.67756A>C	c.(67756-67758)Aaa>Caa	p.K22586Q	TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.K15287Q|TTN_ENST00000460472.2_Missense_Mutation_p.K15162Q|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.K24227Q|TTN_ENST00000342992.6_Missense_Mutation_p.K21659Q|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.K15354Q|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590807.1_RNA			Q8WZ42	TITIN_HUMAN	titin	22586	Fibronectin type-III 64. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCAGGGTTTTTGGGCGGATCA	0.448																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(72679-72681)Aaa>Caa		titin							93	93	93					2																	179438180		1902	4122	6024	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179438180T>G	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.67756A>C	2.37:g.179438180T>G	ENSP00000465570:p.Lys22586Gln					TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.K22586Q|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.K15287Q|TTN_ENST00000342992.6_Missense_Mutation_p.K21659Q|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.K15162Q|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.K15354Q|TTN-AS1_ENST00000592600.1_RNA	p.K24227Q	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		326	72903	-			22586			Ig-like 121.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.72679A>C		.	.	.	.	.	.	.	.	.	.	T	9.973	1.226144	0.22542	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.56275	0.47;0.47;0.47;0.47	6.08	3.63	0.41609	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.28632	0.0709	N	0.02765	-0.5	0.31418	N	0.674658	B;B;B;B	0.16166	0.016;0.016;0.016;0.016	B;B;B;B	0.15052	0.012;0.012;0.012;0.012	T	0.24190	-1.0167	9	0.87932	D	0	.	9.4332	0.38624	0.0:0.0632:0.1221:0.8146	.	15162;15287;15354;22586	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	Q	21659;15162;15354;15287;15160	ENSP00000343764:K21659Q;ENSP00000434586:K15162Q;ENSP00000340554:K15354Q;ENSP00000352154:K15287Q	ENSP00000340554:K15354Q	K	-	1	0	TTN	179146426	1.000000	0.71417	0.998000	0.56505	0.993000	0.82548	2.667000	0.46808	0.498000	0.27948	0.533000	0.62120	AAA		0.448	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		3	114	0	0	0	1	0	3	114					G	179438180	T	G	179438180	3	3	226	1	0	0	0	0	1	0	0	0	16732	1821	63	5	35448	5	TTN	2	179438180	Missense_Mutation	SNP	T	TCGA-HC-7821-01A-12D-2114-08	9375604	179438180	63761193	11	10416											
ACPL2	92370	broad.mit.edu	37	chr3	141011230	141011230	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agagaccactgggaaaagccGgaccctacaaagtgggctgg	13	4	14	10	1	0	1	0	0	0	1	0	4	0	3	3	4	2	1	3	4	4	1	rs570216740		TCGA-HC-7821-01A-12D-2114-08	TCGA-HC-7821-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ec36148-fac7-4583-b63e-6e055faa5d8c	f7dc706c-fd50-4f2b-8b98-db4e3e844012	g.chr3:141011230G>A	ENST00000286353.4	+	6	763	c.626G>A	c.(625-627)cGg>cAg	p.R209Q	ACPL2_ENST00000502783.1_Missense_Mutation_p.R171Q|ACPL2_ENST00000508812.1_Missense_Mutation_p.R200Q|ACPL2_ENST00000393007.1_Missense_Mutation_p.R193Q|RP11-438D8.2_ENST00000507698.1_RNA|ACPL2_ENST00000393010.2_Missense_Mutation_p.R209Q|ACPL2_ENST00000504264.1_Missense_Mutation_p.R192Q	NM_001037172.1|NM_001282728.1	NP_001032249.1|NP_001269657.1	Q8TE99	PXYP1_HUMAN		209						extracellular region (GO:0005576)	acid phosphatase activity (GO:0003993)			endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|prostate(2)|skin(2)	23						GGGAAAAGCCGGACCCTACAA	0.483													G|||	1	0.000199681	0	0.0014	5008	,	,		20416	0		0	False		,,,				2504	0					ENST00000508812.1																			0				endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|prostate(2)|skin(2)	23						c.(598-600)cGg>cAg		acid phosphatase-like 2							62	65	64					3																	141011230		2203	4300	6503	SO:0001583	missense	92370					extracellular region	acid phosphatase activity	g.chr3:141011230G>A																												ENST00000286353.4:c.626G>A	3.37:g.141011230G>A	ENSP00000286353:p.Arg209Gln					ACPL2_ENST00000502783.1_Missense_Mutation_p.R171Q|ACPL2_ENST00000393010.2_Missense_Mutation_p.R209Q|ACPL2_ENST00000393007.1_Missense_Mutation_p.R193Q|ACPL2_ENST00000504264.1_Missense_Mutation_p.R192Q|RP11-438D8.2_ENST00000507698.1_RNA|ACPL2_ENST00000286353.4_Missense_Mutation_p.R209Q	p.R200Q			Q8TE99	ACPL2_HUMAN			5	2506	+			209					D3DNF5|Q49AJ2|W0TR04	Missense_Mutation	SNP	ENST00000286353.4	37	c.599G>A	CCDS3116.1	.	.	.	.	.	.	.	.	.	.	G	32	5.171031	0.94807	.	.	ENSG00000155893	ENST00000286353;ENST00000502783;ENST00000393010;ENST00000504264;ENST00000508812;ENST00000393007;ENST00000332228	D;D;D;D;D;D	0.82344	-1.6;-1.6;-1.6;-1.6;-1.6;-1.6	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	D	0.92551	0.7634	M	0.89287	3.02	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	D	0.93203	0.6593	10	0.66056	D	0.02	.	17.491	0.87703	0.0:0.0:1.0:0.0	.	192;209	B7Z3R9;Q8TE99	.;ACPL2_HUMAN	Q	209;171;209;192;200;193;17	ENSP00000286353:R209Q;ENSP00000422558:R171Q;ENSP00000376733:R209Q;ENSP00000426877:R192Q;ENSP00000422901:R200Q;ENSP00000376731:R193Q	ENSP00000286353:R209Q	R	+	2	0	ACPL2	142493920	1.000000	0.71417	1.000000	0.80357	0.934000	0.57294	9.630000	0.98420	2.793000	0.96121	0.655000	0.94253	CGG		0.483	ACPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359533.2			3	65	0	0	0	1	0	3	65					A	141011230	G	A	141011230	3	1	226	1	0	0	0	0	1	0	0	0	166	1116	39	2	644	2	ACPL2	3	141011230	Missense_Mutation	SNP	G	TCGA-HC-7821-01A-12D-2114-08		141011230	57011200	12	10417											
AFF1	4299	broad.mit.edu	37	chr4	88029355	88029355	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agtggcatcagcacattccaGcagtgcagagtcagaaagca	14	6	11	10	0	2	2	2	0	0	2	3	2	3	2	1	1	4	5	1	1	1	1			TCGA-HC-7821-01A-12D-2114-08	TCGA-HC-7821-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ec36148-fac7-4583-b63e-6e055faa5d8c	f7dc706c-fd50-4f2b-8b98-db4e3e844012	g.chr4:88029355G>A	ENST00000307808.6	+	10	1820	c.1400G>A	c.(1399-1401)aGc>aAc	p.S467N	AFF1_ENST00000395146.4_Missense_Mutation_p.S474N|AFF1_ENST00000544085.1_Missense_Mutation_p.S105N	NM_005935.2	NP_005926.1	P51825	AFF1_HUMAN	AF4/FMR2 family, member 1	467					positive regulation of transcription, DNA-templated (GO:0045893)	transcription elongation factor complex (GO:0008023)	sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|large_intestine(2)	3		Acute lymphoblastic leukemia(40;0.0935)|all_hematologic(202;0.111)|Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000233)		GCACATTCCAGCAGTGCAGAG	0.483																																						ENST00000307808.6																			0				breast(1)|large_intestine(2)	3						c.(1399-1401)aGc>aAc		AF4/FMR2 family, member 1							116	104	108					4																	88029355		2203	4300	6503	SO:0001583	missense	4299					nucleus	sequence-specific DNA binding transcription factor activity	g.chr4:88029355G>A	L22179	CCDS3616.1, CCDS54775.1	4q21.3	2009-08-04	2005-06-27	2005-06-27	ENSG00000172493	ENSG00000172493			7135	protein-coding gene	gene with protein product		159557	"myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 2", "pre-B-cell monocytic leukemia partner 1"	PBM1, MLLT2		7689231, 1423625, 8353274	Standard	NM_005935		Approved	AF-4, AF4	uc011ccz.2	P51825	OTTHUMG00000130603	ENST00000307808.6:c.1400G>A	4.37:g.88029355G>A	ENSP00000305689:p.Ser467Asn					AFF1_ENST00000395146.4_Missense_Mutation_p.S474N|AFF1_ENST00000544085.1_Missense_Mutation_p.S105N	p.S467N	NM_005935.2	NP_005926.1	P51825	AFF1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000233)	10	1820	+		Acute lymphoblastic leukemia(40;0.0935)|all_hematologic(202;0.111)|Hepatocellular(203;0.114)	467					B4DTU1|E9PBM3	Missense_Mutation	SNP	ENST00000307808.6	37	c.1400G>A	CCDS3616.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.53|16.53	3.147913|3.147913	0.57151|0.57151	.|.	.|.	ENSG00000172493|ENSG00000172493	ENST00000541943|ENST00000395146;ENST00000307808;ENST00000511722;ENST00000544085;ENST00000514970	.|T;T;T;T;T	.|0.66815	.|-0.23;-0.23;-0.23;-0.23;-0.23	5.5|5.5	5.5|5.5	0.81552|0.81552	.|.	.|0.328596	.|0.34067	.|N	.|0.004297	T|T	0.73783|0.73783	0.3631|0.3631	M|M	0.65975|0.65975	2.015|2.015	0.45015|0.45015	D|D	0.998036|0.998036	.|P;P;P	.|0.51537	.|0.946;0.946;0.946	.|P;P;P	.|0.54210	.|0.745;0.745;0.745	T|T	0.70200|0.70200	-0.4937|-0.4937	6|10	0.15499|0.26408	T|T	0.54|0.33	-5.2966|-5.2966	14.9868|14.9868	0.71353|0.71353	0.0704:0.0:0.9296:0.0|0.0704:0.0:0.9296:0.0	.|.	.|474;467;467	.|E9PBM3;Q14C88;P51825	.|.;.;AFF1_HUMAN	T|N	127|474;467;105;105;158	.|ENSP00000378578:S474N;ENSP00000305689:S467N;ENSP00000424766:S105N;ENSP00000440843:S105N;ENSP00000424881:S158N	ENSP00000446349:A127T|ENSP00000305689:S467N	A|S	+|+	1|2	0|0	AFF1|AFF1	88248379|88248379	1.000000|1.000000	0.71417|0.71417	0.981000|0.981000	0.43875|0.43875	0.965000|0.965000	0.64279|0.64279	6.775000|6.775000	0.75018|0.75018	2.735000|2.735000	0.93741|0.93741	0.655000|0.655000	0.94253|0.94253	GCA|AGC		0.483	AFF1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253053.3	NM_005935		3	81	0	0	0	1	0	3	81					A	88029355	G	A	88029355	3	1	226	1	0	0	0	0	1	0	0	0	356	971	34	3	1480	3	AFF1	4	88029355	Missense_Mutation	SNP	G	TCGA-HC-7821-01A-12D-2114-08		88029355	103124921	13	10418											
HHIP	64399	broad.mit.edu	37	chr4	145567943	145567943	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggagcaaggaggagaaggtGcctgaatgggaaccccccga	12	3	16	10	2	0	2	0	1	0	1	0	7	0	5	4	5	3	1	4	5	4	0			TCGA-HC-7821-01A-12D-2114-08	TCGA-HC-7821-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ec36148-fac7-4583-b63e-6e055faa5d8c	f7dc706c-fd50-4f2b-8b98-db4e3e844012	g.chr4:145567943G>A	ENST00000296575.3	+	1	771	c.116G>A	c.(115-117)tGc>tAc	p.C39Y	HHIP-AS1_ENST00000503066.1_RNA|HHIP_ENST00000434550.2_Missense_Mutation_p.C39Y|HHIP-AS1_ENST00000508269.1_RNA|HHIP-AS1_ENST00000512359.1_RNA	NM_022475.2	NP_071920.1	Q96QV1	HHIP_HUMAN	hedgehog interacting protein	39	Arg-rich.				carbohydrate metabolic process (GO:0005975)|dorsal/ventral pattern formation (GO:0009953)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|negative regulation of signal transduction (GO:0009968)|negative regulation of smoothened signaling pathway (GO:0045879)|neuroblast proliferation (GO:0007405)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|skeletal system morphogenesis (GO:0048705)|smoothened signaling pathway (GO:0007224)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	hedgehog family protein binding (GO:0097108)|oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor (GO:0016901)|quinone binding (GO:0048038)|zinc ion binding (GO:0008270)	p.C39Y(1)		central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	33	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0185)		AGGAGAAGGTGCCTGAATGGG	0.577																																						ENST00000296575.3																			1	Substitution - Missense(1)	p.C39Y(1)	lung(1)	central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	33						c.(115-117)tGc>tAc		hedgehog interacting protein							85	93	90					4																	145567943		2203	4300	6503	SO:0001583	missense	64399					cytoplasm|extracellular region	catalytic activity|protein binding|zinc ion binding	g.chr4:145567943G>A	AK024645	CCDS3762.1	4q31.21-q31.3	2008-08-29	2001-11-29		ENSG00000164161	ENSG00000164161			14866	protein-coding gene	gene with protein product		606178	"hedgehog-interacting protein"			11435703, 11731473	Standard	NM_022475		Approved	HIP, FLJ20992	uc003ijs.2	Q96QV1	OTTHUMG00000161428	ENST00000296575.3:c.116G>A	4.37:g.145567943G>A	ENSP00000296575:p.Cys39Tyr					HHIP-AS1_ENST00000512359.1_RNA|HHIP_ENST00000434550.2_Missense_Mutation_p.C39Y	p.C39Y	NM_022475.2	NP_071920.1	Q96QV1	HHIP_HUMAN		GBM - Glioblastoma multiforme(119;0.0185)	1	771	+	all_hematologic(180;0.151)		39			Arg-rich.		Q6PK09|Q8NCI7|Q9BXK3|Q9H1J4|Q9H7E7	Missense_Mutation	SNP	ENST00000296575.3	37	c.116G>A	CCDS3762.1	.	.	.	.	.	.	.	.	.	.	G	14.74	2.624803	0.46840	.	.	ENSG00000164161	ENST00000296575;ENST00000434550	D;D	0.95482	-3.72;-3.72	5.11	5.11	0.69529	Folate receptor-like (1);	0.000000	0.85682	D	0.000000	D	0.97266	0.9106	M	0.62723	1.935	0.80722	D	1	D;P	0.76494	0.999;0.756	D;P	0.87578	0.998;0.59	D	0.98041	1.0382	10	0.87932	D	0	-11.1237	18.5565	0.91086	0.0:0.0:1.0:0.0	.	39;39	Q96QV1;Q96QV1-2	HHIP_HUMAN;.	Y	39	ENSP00000296575:C39Y;ENSP00000408587:C39Y	ENSP00000296575:C39Y	C	+	2	0	HHIP	145787393	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.162000	0.89657	2.373000	0.80994	0.650000	0.86243	TGC		0.577	HHIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364887.2			4	59	0	0	0	1	0	4	59					A	145567943	G	A	145567943	3	1	226	1	0	0	0	0	1	0	0	0	7092	1319	46	3	118	3	HHIP	4	145567943	Missense_Mutation	SNP	G	TCGA-HC-7821-01A-12D-2114-08	57538588	145567943	45586333	14	10419											
PRDM9	56979	broad.mit.edu	37	chr5	23527460	23527460	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgtctgcagggagtgtgggCggggctttcgcgataagtca	7	10	17	7	3	2	0	1	0	1	0	3	2	2	1	0	4	1	2	0	4	1	2	rs375086019		TCGA-HC-7821-01A-12D-2114-08	TCGA-HC-7821-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ec36148-fac7-4583-b63e-6e055faa5d8c	f7dc706c-fd50-4f2b-8b98-db4e3e844012	g.chr5:23527460C>T	ENST00000296682.3	+	11	2445	c.2263C>T	c.(2263-2265)Cgg>Tgg	p.R755W		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	755					meiotic gene conversion (GO:0006311)|positive regulation of meiosis I (GO:0060903)|positive regulation of reciprocal meiotic recombination (GO:0010845)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)	histone methyltransferase activity (H3-K4 specific) (GO:0042800)|metal ion binding (GO:0046872)|recombination hotspot binding (GO:0010844)|sequence-specific DNA binding (GO:0043565)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						GGAGTGTGGGCGGGGCTTTCG	0.582										HNSCC(3;0.000094)																												ENST00000296682.3																			0				NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						c.(2263-2265)Cgg>Tgg		PR domain containing 9		C	TRP/ARG	0,4220		0,0,2110	52	74	67		2263	0.6	0.7	5		67	2,8584		0,2,4291	no	missense	PRDM9	NM_020227.2	101	0,2,6401	TT,TC,CC		0.0233,0.0,0.0156	probably-damaging	755/895	23527460	2,12804	2110	4293	6403	SO:0001583	missense	56979				meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding	g.chr5:23527460C>T	AF275816	CCDS43307.1	5p14.2	2014-06-03			ENSG00000164256	ENSG00000164256		"-", "Zinc fingers, C2H2-type"	13994	protein-coding gene	gene with protein product	"PR-domain containing protein 9"	609760	"minisatellite binding protein 3, 115kDa", "minisatellite binding protein 3 (115kD)"	MSBP3		10668202, 2062643, 24634223	Standard	NM_020227		Approved	PFM6, ZNF899	uc003jgo.3	Q9NQV7	OTTHUMG00000161918	ENST00000296682.3:c.2263C>T	5.37:g.23527460C>T	ENSP00000296682:p.Arg755Trp	HNSCC(3;0.000094)					p.R755W	NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN			11	2445	+			755					B4DX22|Q27Q50	Missense_Mutation	SNP	ENST00000296682.3	37	c.2263C>T	CCDS43307.1	.	.	.	.	.	.	.	.	.	.	C	8.854	0.945239	0.18356	0.0	2.33E-4	ENSG00000164256	ENST00000296682	T	0.19806	2.12	2.65	0.551	0.17225	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.38268	0.1034	M	0.78916	2.43	0.26567	N	0.973634	D	0.76494	0.999	P	0.58928	0.848	T	0.18650	-1.0330	9	0.87932	D	0	.	8.0201	0.30404	0.6337:0.3662:0.0:0.0	.	755	Q9NQV7	PRDM9_HUMAN	W	755	ENSP00000296682:R755W	ENSP00000296682:R755W	R	+	1	2	PRDM9	23563217	0.709000	0.27886	0.659000	0.29680	0.016000	0.09150	2.296000	0.43584	0.125000	0.18397	-0.516000	0.04426	CGG		0.582	PRDM9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366375.1	NM_020227		10	154	0	0	0	1	0	10	154					T	23527460	C	T	23527460	3	4	226	1	0	0	0	0	1	0	0	0	12463	759	27	1	2301	1	PRDM9	5	23527460	Missense_Mutation	SNP	C	TCGA-HC-7821-01A-12D-2114-08		23527460	157387800	15	10420											
C7	730	broad.mit.edu	37	chr5	40958242	40958242	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gatgaatttgacccctgtcaTtgccggccttgtcaaaatgg	9	12	10	10	1	2	2	2	2	0	0	2	3	2	2	4	2	1	0	4	2	3	3			TCGA-HC-7821-01A-12D-2114-08	TCGA-HC-7821-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ec36148-fac7-4583-b63e-6e055faa5d8c	f7dc706c-fd50-4f2b-8b98-db4e3e844012	g.chr5:40958242T>C	ENST00000313164.9	+	11	1727	c.1368T>C	c.(1366-1368)caT>caC	p.H456H		NM_000587.2	NP_000578.2	P10643	CO7_HUMAN	complement component 7	456	MACPF. {ECO:0000255|PROSITE- ProRule:PRU00745}.				cellular sodium ion homeostasis (GO:0006883)|complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane attack complex (GO:0005579)							Ovarian(839;0.0112)				ACCCCTGTCATTGCCGGCCTT	0.473																																						ENST00000313164.9																			0											c.(1366-1368)caT>caC		complement component 7							148	140	143					5																	40958242		1913	4119	6032	SO:0001819	synonymous_variant	730				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular region|membrane attack complex		g.chr5:40958242T>C	J03507	CCDS47201.1	5p13.1	2014-09-17			ENSG00000112936	ENSG00000112936		"Complement system"	1346	protein-coding gene	gene with protein product		217070					Standard	NM_000587		Approved		uc003jmh.3	P10643	OTTHUMG00000150340	ENST00000313164.9:c.1368T>C	5.37:g.40958242T>C							p.H456H	NM_000587.2	NP_000578.2	P10643	CO7_HUMAN			11	1727	+		Ovarian(839;0.0112)	456			MACPF.		Q6P3T5|Q92489	Silent	SNP	ENST00000313164.9	37	c.1368T>C	CCDS47201.1																																																																																				0.473	C7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317680.1			4	76	0	0	0	1	0	4	76					C	40958242	T	C	40958242	2	2	226	1	0	0	0	0	0	0	0	1	2375	1490	52	4		4	C7	5	40958242	Silent	SNP	T	TCGA-HC-7821-01A-12D-2114-08	17430782	40958242	139957018	16	10421											
PCDHGA1	56114	broad.mit.edu	37	chr5	140711225	140711225	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agttcaagcccaggatggtgCggggctcatggctaaagtta	10	9	14	8	1	2	0	2	0	0	0	2	1	2	1	1	5	2	4	1	5	4	3			TCGA-HC-7821-01A-12D-2114-08	TCGA-HC-7821-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ec36148-fac7-4583-b63e-6e055faa5d8c	f7dc706c-fd50-4f2b-8b98-db4e3e844012	g.chr5:140711225C>T	ENST00000517417.1	+	1	974	c.974C>T	c.(973-975)gCg>gTg	p.A325V	AC005618.6_ENST00000606901.1_lincRNA|PCDHGA1_ENST00000378105.3_Missense_Mutation_p.A325V	NM_018912.2	NP_061735.1	Q9Y5H4	PCDG1_HUMAN	protocadherin gamma subfamily A, 1	325	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|lung(32)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAGGATGGTGCGGGGCTCATG	0.398																																						ENST00000517417.1																			0				breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|lung(32)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	78						c.(973-975)gCg>gTg									67	67	67					5																	140711225		2203	4300	6503	SO:0001583	missense	0							g.chr5:140711225C>T	AF152318	CCDS54922.1	5q31	2010-01-26				ENSG00000204956		"Cadherins / Protocadherins : Clustered"	8696	other	protocadherin		606288				10380929	Standard	NM_018912		Approved	PCDH-GAMMA-A1		Q9Y5H4		ENST00000517417.1:c.974C>T	5.37:g.140711225C>T	ENSP00000431083:p.Ala325Val					PCDHGA1_ENST00000378105.3_Missense_Mutation_p.A325V	p.A325V	NM_018912.2	NP_061735.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	974	+								Q2M273|Q9Y5D6	Missense_Mutation	SNP	ENST00000517417.1	37	c.974C>T	CCDS54922.1	.	.	.	.	.	.	.	.	.	.	C	15.81	2.942599	0.53079	.	.	ENSG00000204956	ENST00000517417;ENST00000378105	T;T	0.01804	4.63;4.63	3.99	3.11	0.35812	Cadherin (5);Cadherin-like (1);	0.508000	0.16286	N	0.221133	T	0.03263	0.0095	M	0.73962	2.25	0.09310	N	0.999993	P;P	0.46987	0.864;0.888	B;B	0.43445	0.295;0.42	T	0.36504	-0.9745	10	0.45353	T	0.12	.	6.3929	0.21597	0.0:0.5333:0.3578:0.1088	.	325;325	Q9Y5H4-2;Q9Y5H4	.;PCDG1_HUMAN	V	325	ENSP00000431083:A325V;ENSP00000367345:A325V	ENSP00000367345:A325V	A	+	2	0	PCDHGA1	140691409	0.332000	0.24722	0.995000	0.50966	0.796000	0.44982	2.060000	0.41394	2.237000	0.73441	0.650000	0.86243	GCG		0.398	PCDHGA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000374737.1	NM_018912		20	44	0	0	0	1	0	20	44					T	140711225	C	T	140711225	3	4	226	1	0	0	0	0	1	0	0	0	11550	768	27	1	976	1	PCDHGA1	5	140711225	Missense_Mutation	SNP	C	TCGA-HC-7821-01A-12D-2114-08	99752983	140711225	40204035	17	10422											
PCDHGC3	5098	broad.mit.edu	37	chr5	140856728	140856728	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgtggatgtgaatgacaacGccccggagatcacagtcacc	11	8	11	11	2	2	3	2	2	0	1	2	5	2	4	3	2	1	0	3	2	2	1			TCGA-HC-7821-01A-12D-2114-08	TCGA-HC-7821-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ec36148-fac7-4583-b63e-6e055faa5d8c	f7dc706c-fd50-4f2b-8b98-db4e3e844012	g.chr5:140856728G>A	ENST00000308177.3	+	1	1149	c.1045G>A	c.(1045-1047)Gcc>Acc	p.A349T	PCDHGB3_ENST00000576222.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|RN7SL68P_ENST00000488078.2_RNA|PCDHGA11_ENST00000518882.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA11_ENST00000398587.2_Intron	NM_002588.2|NM_032402.1	NP_002579.2|NP_115778.1	Q9UN70	PCDGK_HUMAN	protocadherin gamma subfamily C, 3	349	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|skin(2)|urinary_tract(1)	29			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAATGACAACGCCCCGGAGAT	0.552																																						ENST00000308177.3																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|skin(2)|urinary_tract(1)	29						c.(1045-1047)Gcc>Acc									68	59	62					5																	140856728		2203	4300	6503	SO:0001583	missense	0							g.chr5:140856728G>A	AF152337	CCDS4261.1, CCDS75347.1, CCDS75348.1	5q31	2010-01-26			ENSG00000240184	ENSG00000240184		"Cadherins / Protocadherins : Clustered"	8716	other	protocadherin	"cadherin-like 2", "protocadherin 2", "protocadherin 43"	603627		PCDH2		9360932, 8508762	Standard	NM_032402		Approved	PC-43, PC43, PCDH-GAMMA-C3		Q9UN70	OTTHUMG00000129613	ENST00000308177.3:c.1045G>A	5.37:g.140856728G>A	ENSP00000312070:p.Ala349Thr					PCDHGA9_ENST00000573521.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron	p.A349T	NM_002588.2|NM_032402.1	NP_002579.2|NP_115778.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1149	+								O60622|Q08192|Q9Y5C4	Missense_Mutation	SNP	ENST00000308177.3	37	c.1045G>A	CCDS4261.1	.	.	.	.	.	.	.	.	.	.	G	15.62	2.887955	0.52014	.	.	ENSG00000240184	ENST00000308177	T	0.61627	0.09	5.49	4.63	0.57726	Cadherin (3);Cadherin conserved site (1);Cadherin-like (1);	.	.	.	.	T	0.60945	0.2308	M	0.80422	2.495	0.29004	N	0.887285	B;B	0.30211	0.009;0.273	B;B	0.26094	0.009;0.066	T	0.61926	-0.6962	9	0.59425	D	0.04	.	14.4647	0.67475	0.0701:0.0:0.9299:0.0	.	349;349	Q9UN70;Q9UN70-2	PCDGK_HUMAN;.	T	349	ENSP00000312070:A349T	ENSP00000312070:A349T	A	+	1	0	PCDHGC3	140836912	1.000000	0.71417	1.000000	0.80357	0.758000	0.43043	3.197000	0.51028	1.566000	0.49654	-0.140000	0.14226	GCC		0.552	PCDHGC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251808.2	NM_002588		28	32	0	0	0	1	0	28	32					A	140856728	G	A	140856728	3	1	226	1	0	0	0	0	1	0	0	0	11569	1087	38	1	1047	1	PCDHGC3	5	140856728	Missense_Mutation	SNP	G	TCGA-HC-7821-01A-12D-2114-08	145503	140856728	40058532	18	10423											
DLX6	1750	broad.mit.edu	37	chr7	96635545	96635547	+	In_Frame_Del	DEL	CAC	CAC	-																															cggcggcagcggccggctcgCaccaccaccaccaccaccag																										TCGA-HC-7821-01A-12D-2114-08	TCGA-HC-7821-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ec36148-fac7-4583-b63e-6e055faa5d8c	f7dc706c-fd50-4f2b-8b98-db4e3e844012	g.chr7:96635545_96635547delCAC	ENST00000518156.2	+	1	686_688	c.256_258delCAC	c.(256-258)cacdel	p.H91del	DLX6-AS1_ENST00000430027.3_RNA|DLX6-AS1_ENST00000605417.1_RNA|DLX6_ENST00000007660.5_In_Frame_Del_p.H63del|DLX6-AS1_ENST00000437331.2_RNA|DLX6_ENST00000555308.1_5'Flank|DLX6-AS1_ENST00000452769.2_RNA|DLX6-AS1_ENST00000430404.2_RNA|DLX6-AS1_ENST00000431497.2_RNA|DLX6-AS2_ENST00000606174.1_RNA|DLX6-AS1_ENST00000437541.1_RNA|DLX6-AS1_ENST00000458352.2_RNA			P56179	DLX6_HUMAN	distal-less homeobox 6	0					anatomical structure formation involved in morphogenesis (GO:0048646)|embryonic limb morphogenesis (GO:0030326)|epithelial cell differentiation (GO:0030855)|head development (GO:0060322)|inner ear morphogenesis (GO:0042472)|nervous system development (GO:0007399)|palate development (GO:0060021)|positive regulation of epithelial cell proliferation (GO:0050679)|skeletal system development (GO:0001501)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|kidney(1)|large_intestine(1)|liver(2)|lung(4)|ovary(2)|urinary_tract(1)	12	all_cancers(62;9.56e-09)|all_epithelial(64;7.38e-09)|Esophageal squamous(72;0.0125)|all_lung(186;0.0855)|Lung NSC(181;0.0858)					GGCCGGCTCGcaccaccaccacc	0.729																																						ENST00000518156.2																			0				central_nervous_system(1)|kidney(1)|large_intestine(1)|liver(2)|lung(4)|ovary(2)|urinary_tract(1)	12						c.(256-258)del		distal-less homeobox 6				63,3,2684		10,0,43,0,3,1319						-4.9	0.2			10	115,3,5884		8,1,98,0,2,2892	no	codingComplex	DLX6	NM_005222.3		18,1,141,0,5,4211	A1A1,A1A2,A1R,A2A2,A2R,RR		1.966,2.4,2.1024				178,6,8568				SO:0001651	inframe_deletion	1750				nervous system development|skeletal system development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:96635545_96635547delCAC		CCDS47647.1, CCDS47647.2	7q21.3	2011-06-20	2005-12-22		ENSG00000006377	ENSG00000006377		"Homeoboxes / ANTP class : NKL subclass"	2919	protein-coding gene	gene with protein product		600030	"distal-less homeo box 6"			7907794	Standard	NM_005222		Approved		uc022ahu.1	P56179	OTTHUMG00000154201	ENST00000518156.2:c.256_258delCAC	7.37:g.96635554_96635556delCAC	ENSP00000428480:p.His91del					DLX6-AS1_ENST00000452769.2_RNA|DLX6-AS1_ENST00000458352.2_RNA|DLX6-AS1_ENST00000430027.2_RNA|DLX6-AS1_ENST00000437541.1_RNA|DLX6-AS1_ENST00000605417.1_RNA|DLX6-AS1_ENST00000437331.2_RNA|DLX6-AS1_ENST00000430404.2_RNA|DLX6_ENST00000007660.5_In_Frame_Del_p.H63del	p.H91del			P56179	DLX6_HUMAN			1	686_688	+	all_cancers(62;9.56e-09)|all_epithelial(64;7.38e-09)|Esophageal squamous(72;0.0125)|all_lung(186;0.0855)|Lung NSC(181;0.0858)		0					A4D1I2|B3KSQ0|J3KR92|Q3ZAR6|Q9UPL2	In_Frame_Del	DEL	ENST00000518156.2	37	c.256_258delCAC	CCDS47647.2																																																																																				0.729	DLX6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334373.4	NM_005222		3	6						3	6	---	---	---	---	-	96635547	CAC	-	96635545	7	5	226	1	0	1	0	1	0	0	0	0	4575	710	25	0	258	0	DLX6	7	96635545	In_Frame_Del	DEL	CAC	TCGA-HC-7821-01A-12D-2114-08		96635545	62503118	19	10424											
NPTX2	4885	broad.mit.edu	37	chr7	98254301	98254301	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctccgcacaaactacctataCggcaagatcaagaagacgct	15	6	7	13	3	1	3	1	0	0	3	2	3	2	3	2	1	3	3	2	1	7	3	rs573416055		TCGA-HC-7821-01A-12D-2114-08	TCGA-HC-7821-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ec36148-fac7-4583-b63e-6e055faa5d8c	f7dc706c-fd50-4f2b-8b98-db4e3e844012	g.chr7:98254301C>T	ENST00000265634.3	+	3	876	c.711C>T	c.(709-711)taC>taT	p.Y237Y		NM_002523.2	NP_002514.1	P47972	NPTX2_HUMAN	neuronal pentraxin II	237	Pentaxin.				synaptic transmission (GO:0007268)	extracellular region (GO:0005576)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	18	all_cancers(62;2.28e-09)|all_epithelial(64;4.86e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0128)|all_lung(186;0.0142)		STAD - Stomach adenocarcinoma(171;0.215)			ACTACCTATACGGCAAGATCA	0.587													C|||	1	0.000199681	0	0	5008	,	,		19245	0		0.001	False		,,,				2504	0					ENST00000265634.3																			0				breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	18						c.(709-711)taC>taT		neuronal pentraxin II							222	177	192					7																	98254301		2203	4300	6503	SO:0001819	synonymous_variant	4885				synaptic transmission	extracellular region	metal ion binding|sugar binding	g.chr7:98254301C>T		CCDS5657.1	7q21.3-q22.1	2008-04-30			ENSG00000106236	ENSG00000106236			7953	protein-coding gene	gene with protein product	"apexin"	600750				8530029	Standard	NM_002523		Approved		uc003upl.2	P47972	OTTHUMG00000154369	ENST00000265634.3:c.711C>T	7.37:g.98254301C>T							p.Y237Y	NM_002523.2	NP_002514.1	P47972	NPTX2_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)		3	876	+	all_cancers(62;2.28e-09)|all_epithelial(64;4.86e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0128)|all_lung(186;0.0142)		237			Pentaxin.		A4D267|Q86XV7|Q96G70	Silent	SNP	ENST00000265634.3	37	c.711C>T	CCDS5657.1																																																																																				0.587	NPTX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334982.1	NM_002523		78	104	0	0	0	1	0	78	104					T	98254301	C	T	98254301	2	4	226	1	0	0	0	0	0	0	0	1	10603	547	19	1		1	NPTX2	7	98254301	Silent	SNP	C	TCGA-HC-7821-01A-12D-2114-08	1618756	98254301	60884362	20	10425											
PRKDC	5591	broad.mit.edu	37	chr8	48801155	48801155	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acacaacagcagccagcctgCtcctgtccacttgcgcgtca	9	7	8	17	2	1	0	1	0	0	0	3	0	3	0	4	0	6	2	4	0	1	1			TCGA-HC-7821-01A-12D-2114-08	TCGA-HC-7821-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ec36148-fac7-4583-b63e-6e055faa5d8c	f7dc706c-fd50-4f2b-8b98-db4e3e844012	g.chr8:48801155C>T	ENST00000314191.2	-	35	4390	c.4334G>A	c.(4333-4335)aGc>aAc	p.S1445N	PRKDC_ENST00000338368.3_Missense_Mutation_p.S1445N|AC103686.1_ENST00000390136.2_RNA|PRKDC_ENST00000523565.1_5'UTR	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	1446					B cell lineage commitment (GO:0002326)|brain development (GO:0007420)|cellular protein modification process (GO:0006464)|cellular response to insulin stimulus (GO:0032869)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|ectopic germ cell programmed cell death (GO:0035234)|heart development (GO:0007507)|immunoglobulin V(D)J recombination (GO:0033152)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of protein phosphorylation (GO:0001933)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|pro-B cell differentiation (GO:0002328)|protein destabilization (GO:0031648)|regulation of circadian rhythm (GO:0042752)|response to gamma radiation (GO:0010332)|rhythmic process (GO:0048511)|signal transduction involved in mitotic G1 DNA damage checkpoint (GO:0072431)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell receptor V(D)J recombination (GO:0033153)|telomere maintenance (GO:0000723)	cytosol (GO:0005829)|DNA-dependent protein kinase-DNA ligase 4 complex (GO:0005958)|membrane (GO:0016020)|nonhomologous end joining complex (GO:0070419)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transcription factor binding (GO:0008134)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)			Caffeine(DB00201)	AGCCAGCCTGCTCCTGTCCAC	0.473								Non-homologous end-joining																													Esophageal Squamous(79;1091 1253 12329 31680 40677)	ENST00000314191.2																			0				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147						c.(4333-4335)aGc>aAc	Non-homologous end-joining	protein kinase, DNA-activated, catalytic polypeptide							28	30	29					8																	48801155		1995	4186	6181	SO:0001583	missense	5591				cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding	g.chr8:48801155C>T		CCDS75734.1, CCDS75735.1	8q11	2014-09-17				ENSG00000253729	2.7.11.1		9413	protein-coding gene	gene with protein product		600899		HYRC, HYRC1		7638222	Standard	NM_001081640		Approved	DNPK1, p350, DNAPK, XRCC7, DNA-PKcs	uc003xqi.3	P78527		ENST00000314191.2:c.4334G>A	8.37:g.48801155C>T	ENSP00000313420:p.Ser1445Asn					PRKDC_ENST00000338368.3_Missense_Mutation_p.S1445N|PRKDC_ENST00000523565.1_5'UTR	p.S1445N	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN			35	4390	-		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)	1446					P78528|Q13327|Q13337|Q14175|Q59H99|Q7Z611|Q96SE6|Q9UME3	Missense_Mutation	SNP	ENST00000314191.2	37	c.4334G>A		.	.	.	.	.	.	.	.	.	.	C	7.480	0.648423	0.14516	.	.	ENSG00000253729	ENST00000314191;ENST00000338368	T;T	0.02395	4.38;4.31	5.37	2.58	0.30949	.	0.927300	0.09288	N	0.822705	T	0.01905	0.0060	N	0.14661	0.345	0.09310	N	1	B;B	0.23540	0.042;0.087	B;B	0.21546	0.035;0.035	T	0.50996	-0.8761	10	0.18276	T	0.48	.	4.7441	0.13029	0.2633:0.3315:0.4052:0.0	.	1445;1446	E7EUY0;P78527	.;PRKDC_HUMAN	N	1445	ENSP00000313420:S1445N;ENSP00000345182:S1445N	ENSP00000313420:S1445N	S	-	2	0	PRKDC	48963708	0.998000	0.40836	0.042000	0.18584	0.154000	0.21943	1.822000	0.39052	0.240000	0.21263	-0.340000	0.08031	AGC		0.473	PRKDC-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001081640		5	5	0	0	0	1	0	5	5					T	48801155	C	T	48801155	3	4	226	1	0	0	0	0	1	0	0	0	12521	797	28	3	8261	3	PRKDC	8	48801155	Missense_Mutation	SNP	C	TCGA-HC-7821-01A-12D-2114-08		48801155	97562867	21	10426											
CUBN	8029	broad.mit.edu	37	chr10	17142211	17142211	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gttgtccatggattctaaccGgaaaaaagtgaaagtgatac	15	10	10	6	1	1	2	0	2	1	0	2	4	2	4	2	2	2	1	2	2	6	4	rs564637804		TCGA-HC-7821-01A-12D-2114-08	TCGA-HC-7821-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ec36148-fac7-4583-b63e-6e055faa5d8c	f7dc706c-fd50-4f2b-8b98-db4e3e844012	g.chr10:17142211G>A	ENST00000377833.4	-	14	1623	c.1558C>T	c.(1558-1560)Cgg>Tgg	p.R520W		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	520	CUB 1. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cholesterol metabolic process (GO:0008203)|cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|tissue homeostasis (GO:0001894)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|cobalamin binding (GO:0031419)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)|transporter activity (GO:0005215)			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	GATTCTAACCGGAAAAAAGTG	0.383													G|||	1	0.000199681	0	0.0014	5008	,	,		14751	0		0	False		,,,				2504	0					ENST00000377833.4																			0				breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241						c.(1558-1560)Cgg>Tgg		cubilin (intrinsic factor-cobalamin receptor)	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)						67	69	68					10																	17142211		2203	4300	6503	SO:0001583	missense	8029				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity	g.chr10:17142211G>A	AF034611	CCDS7113.1	10p12	2014-09-17			ENSG00000107611	ENSG00000107611			2548	protein-coding gene	gene with protein product		602997		MGA1		9572993, 9478979	Standard	NM_001081		Approved	IFCR, gp280	uc001ioo.3	O60494	OTTHUMG00000017741	ENST00000377833.4:c.1558C>T	10.37:g.17142211G>A	ENSP00000367064:p.Arg520Trp						p.R520W	NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN			14	1623	-			520			CUB 1.		B0YIZ4|Q5VTA6|Q96RU9	Missense_Mutation	SNP	ENST00000377833.4	37	c.1558C>T	CCDS7113.1	.	.	.	.	.	.	.	.	.	.	G	14.80	2.643105	0.47153	.	.	ENSG00000107611	ENST00000377833	T	0.18502	2.21	5.51	4.58	0.56647	CUB (5);	0.577503	0.14251	N	0.331463	T	0.28067	0.0692	L	0.39898	1.24	0.80722	D	1	D	0.69078	0.997	P	0.54372	0.75	T	0.02444	-1.1158	10	0.66056	D	0.02	.	15.9329	0.79679	0.0:0.1399:0.8601:0.0	.	520	O60494	CUBN_HUMAN	W	520	ENSP00000367064:R520W	ENSP00000367064:R520W	R	-	1	2	CUBN	17182217	0.979000	0.34478	0.400000	0.26346	0.208000	0.24298	1.670000	0.37502	1.276000	0.44395	0.650000	0.86243	CGG		0.383	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047009.1	NM_001081		12	35	0	0	0	1	0	12	35					A	17142211	G	A	17142211	3	1	226	1	0	0	0	0	1	0	0	0	4051	1115	39	2	9529	2	CUBN	10	17142211	Missense_Mutation	SNP	G	TCGA-HC-7821-01A-12D-2114-08		17142211	118392536	22	10427											
C10orf72	196740	broad.mit.edu	37	chr10	50256602	50256602	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggctgtagtggggccaagctGgtcacgctagtgacagtctc	7	9	15	10	1	2	1	1	1	1	0	3	1	2	1	1	4	1	4	1	4	3	2			TCGA-HC-7821-01A-12D-2114-08	TCGA-HC-7821-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ec36148-fac7-4583-b63e-6e055faa5d8c	f7dc706c-fd50-4f2b-8b98-db4e3e844012	g.chr10:50256602G>A	ENST00000332853.4	-	6	719	c.696C>T	c.(694-696)acC>acT	p.T232T		NM_001031746.3	NP_001026916.2	Q8IW00	VSTM4_HUMAN	V-set and transmembrane domain containing 4	232						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(14)|skin(2)	31						GGGCCAAGCTGGTCACGCTAG	0.502																																						ENST00000332853.3																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(14)|skin(2)	31						c.(694-696)acC>acT		V-set and transmembrane domain containing 4							82	72	76					10																	50256602		2203	4300	6503	SO:0001819	synonymous_variant	196740					integral to membrane|plasma membrane		g.chr10:50256602G>A	BC041414	CCDS7228.1, CCDS31198.1	10q11.23	2013-01-11	2011-07-01	2011-07-01	ENSG00000165633	ENSG00000165633		"Immunoglobulin superfamily / V-set domain containing"	26470	protein-coding gene	gene with protein product			"chromosome 10 open reading frame 72"	C10orf72			Standard	XR_246075		Approved	FLJ31737	uc001jhf.2	Q8IW00	OTTHUMG00000018184	ENST00000332853.4:c.696C>T	10.37:g.50256602G>A							p.T232T	NM_001031746.3	NP_001026916.2	Q8IW00	CJ072_HUMAN			6	719	-			232					B4DNI6|Q96MX7	Silent	SNP	ENST00000332853.4	37	c.696C>T	CCDS31198.1																																																																																				0.502	VSTM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047966.2	NM_144984		3	79	0	0	0	1	0	3	79					A	50256602	G	A	50256602	2	1	226	1	0	0	0	0	0	0	0	1	1615	1335	47	3		3	C10orf72	10	50256602	Silent	SNP	G	TCGA-HC-7821-01A-12D-2114-08	33114391	50256602	85278145	23	10428											
PUS7L	83448	broad.mit.edu	37	chr12	44142400	44142400	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acatttccaggttttcctttCgtagggtaaaagctgaaaca	12	13	8	8	1	0	1	0	1	0	0	3	1	2	1	2	2	2	4	2	2	4	6	rs145814117		TCGA-HC-7821-01A-12D-2114-08	TCGA-HC-7821-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ec36148-fac7-4583-b63e-6e055faa5d8c	f7dc706c-fd50-4f2b-8b98-db4e3e844012	g.chr12:44142400C>A	ENST00000416848.2	-	3	1411	c.923G>T	c.(922-924)cGa>cTa	p.R308L	PUS7L_ENST00000553166.1_Missense_Mutation_p.R308L|PUS7L_ENST00000551923.1_Missense_Mutation_p.R308L|PUS7L_ENST00000344862.5_Missense_Mutation_p.R308L|PUS7L_ENST00000431332.3_5'UTR	NM_001098615.1|NM_001271826.1	NP_001092085.1|NP_001258755.1	Q9H0K6	PUS7L_HUMAN	pseudouridylate synthase 7 homolog (S. cerevisiae)-like	308					pseudouridine synthesis (GO:0001522)|tRNA processing (GO:0008033)		pseudouridine synthase activity (GO:0009982)|RNA binding (GO:0003723)			NS(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(15)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	all_cancers(12;0.00027)	Lung NSC(34;0.114)|all_lung(34;0.24)		GBM - Glioblastoma multiforme(48;0.0402)		GTTTTCCTTTCGTAGGGTAAA	0.318													C|||	1	0.000199681	0	0.0014	5008	,	,		17565	0		0	False		,,,				2504	0					ENST00000416848.2																			0				NS(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(15)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(922-924)cGa>cTa		pseudouridylate synthase 7 homolog (S. cerevisiae)-like		C	LEU/ARG,LEU/ARG,LEU/ARG	0,4404		0,0,2202	58	57	57		923,923,923	1.9	1	12	dbSNP_134	57	3,8597	3.0+/-9.4	0,3,4297	yes	missense,missense,missense	PUS7L	NM_001098614.1,NM_001098615.1,NM_031292.3	102,102,102	0,3,6499	AA,AC,CC		0.0349,0.0,0.0231	possibly-damaging,possibly-damaging,possibly-damaging	308/702,308/702,308/702	44142400	3,13001	2202	4300	6502	SO:0001583	missense	83448				pseudouridine synthesis|tRNA processing		pseudouridine synthase activity|RNA binding	g.chr12:44142400C>A	BX647494	CCDS8743.1, CCDS61104.1	12q12	2006-02-07				ENSG00000129317			25276	protein-coding gene	gene with protein product						11230166	Standard	NM_001098615		Approved	DKFZP434G1415	uc001rnr.5	Q9H0K6	OTTHUMG00000169423	ENST00000416848.2:c.923G>T	12.37:g.44142400C>A	ENSP00000415899:p.Arg308Leu					PUS7L_ENST00000551923.1_Missense_Mutation_p.R308L|PUS7L_ENST00000431332.3_5'UTR|PUS7L_ENST00000344862.5_Missense_Mutation_p.R308L|PUS7L_ENST00000553166.1_Missense_Mutation_p.R308L	p.R308L	NM_001098615.1|NM_001271826.1	NP_001092085.1|NP_001258755.1	Q9H0K6	PUS7L_HUMAN		GBM - Glioblastoma multiforme(48;0.0402)	3	1411	-	all_cancers(12;0.00027)	Lung NSC(34;0.114)|all_lung(34;0.24)	308					B3KUJ1|Q05CU0|Q6AHZ3|Q6NUP2	Missense_Mutation	SNP	ENST00000416848.2	37	c.923G>T	CCDS8743.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	15.99	2.994838	0.54041	0.0	3.49E-4	ENSG00000129317	ENST00000416848;ENST00000344862;ENST00000551923;ENST00000553166	T;T;T;T	0.47177	0.85;0.85;0.85;0.85	4.86	1.86	0.25419	Pseudouridine synthase, catalytic domain (1);	0.407015	0.27572	N	0.018780	T	0.37839	0.1018	L	0.45352	1.415	0.80722	D	1	P	0.45212	0.853	P	0.45037	0.467	T	0.09997	-1.0649	10	0.16420	T	0.52	-1.9736	7.7807	0.29064	0.0:0.4599:0.0:0.5401	.	308	Q9H0K6	PUS7L_HUMAN	L	308	ENSP00000415899:R308L;ENSP00000343081:R308L;ENSP00000447706:R308L;ENSP00000446865:R308L	ENSP00000343081:R308L	R	-	2	0	PUS7L	42428667	0.762000	0.28451	0.998000	0.56505	0.996000	0.88848	0.115000	0.15540	0.249000	0.21456	0.563000	0.77884	CGA		0.318	PUS7L-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403931.1	NM_031292		3	34	1	0	0.00909568	1	0.00940932	3	34					A	44142400	C	A	44142400	3	1	226	1	0	0	0	0	1	0	0	0	12834	884	31	5	1210	5	PUS7L	12	44142400	Missense_Mutation	SNP	C	TCGA-HC-7821-01A-12D-2114-08		44142400	89709495	24	10429											
MLXIP	22877	broad.mit.edu	37	chr12	122613718	122613718	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agggaagtactggaagagccGcatcgagattgtgatccggg	11	7	16	7	3	0	3	0	1	0	2	2	6	1	5	2	3	2	2	2	3	3	2			TCGA-HC-7821-01A-12D-2114-08	TCGA-HC-7821-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ec36148-fac7-4583-b63e-6e055faa5d8c	f7dc706c-fd50-4f2b-8b98-db4e3e844012	g.chr12:122613718G>T	ENST00000319080.7	+	4	773	c.641G>T	c.(640-642)cGc>cTc	p.R214L						MLX interacting protein											NS(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)	20	all_neural(191;0.0837)|Medulloblastoma(191;0.163)	Lung NSC(355;0.0659)		OV - Ovarian serous cystadenocarcinoma(86;0.000599)|Epithelial(86;0.00102)|BRCA - Breast invasive adenocarcinoma(302;0.233)		TGGAAGAGCCGCATCGAGATT	0.547																																					Esophageal Squamous(105;787 1493 16200 18566 52466)	ENST00000319080.6																			0				NS(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)	20						c.(640-642)cGc>cTc		MLX interacting protein							47	51	50					12																	122613718		1957	4147	6104	SO:0001583	missense	22877				regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrial outer membrane|nucleus	DNA binding	g.chr12:122613718G>T	AB020674	CCDS73540.1	12q21.31	2013-05-21				ENSG00000175727		"Basic helix-loop-helix proteins"	17055	protein-coding gene	gene with protein product		608090				10048485, 11073985	Standard	XM_006719290		Approved	MONDOA, KIAA0867, MIR, bHLHe36	uc001ubq.3	Q9HAP2		ENST00000319080.7:c.641G>T	12.37:g.122613718G>T	ENSP00000312834:p.Arg214Leu						p.R214L			Q9HAP2	MLXIP_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000599)|Epithelial(86;0.00102)|BRCA - Breast invasive adenocarcinoma(302;0.233)	4	773	+	all_neural(191;0.0837)|Medulloblastoma(191;0.163)	Lung NSC(355;0.0659)	214			Required for cytoplasmic localization.			Missense_Mutation	SNP	ENST00000319080.7	37	c.641G>T		.	.	.	.	.	.	.	.	.	.	G	36	5.772968	0.96922	.	.	ENSG00000175727	ENST00000319080	T	0.31247	1.5	5.35	5.35	0.76521	.	0.000000	0.85682	D	0.000000	T	0.59418	0.2192	.	.	.	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.63598	-0.6601	9	0.72032	D	0.01	-22.044	19.0783	0.93171	0.0:0.0:1.0:0.0	.	214	Q9HAP2	MLXIP_HUMAN	L	214	ENSP00000312834:R214L	ENSP00000312834:R214L	R	+	2	0	MLXIP	121179672	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.776000	0.99001	2.504000	0.84457	0.655000	0.94253	CGC		0.547	MLXIP-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000401718.2	NM_014938		3	21	1	0	0.00024832	1	0.000270895	3	21					T	122613718	G	T	122613718	3	4	226	1	0	0	0	0	1	0	0	0	9636	1087	38	5	655	5	MLXIP	12	122613718	Missense_Mutation	SNP	G	TCGA-HC-7821-01A-12D-2114-08	78471318	122613718	11238177	25	10430											
EP400	57634	broad.mit.edu	37	chr12	132547141	132547141	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagcagcagcagcagcaacaGcagcagcagcaacagacgac	16	0	11	14	1	0	1	0	0	0	1	0	2	0	1	0	0	11	9	0	0	2	0			TCGA-HC-7821-01A-12D-2114-08	TCGA-HC-7821-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ec36148-fac7-4583-b63e-6e055faa5d8c	f7dc706c-fd50-4f2b-8b98-db4e3e844012	g.chr12:132547141G>A	ENST00000333577.4	+	48	8446	c.8337G>A	c.(8335-8337)caG>caA	p.Q2779Q	EP400_ENST00000332482.4_Silent_p.Q2706Q|EP400_ENST00000330386.6_Silent_p.Q2662Q|EP400_ENST00000389562.2_Silent_p.Q2742Q|EP400_ENST00000389561.2_Silent_p.Q2743Q			Q96L91	EP400_HUMAN	E1A binding protein p400	2779	Interaction with ZNF42. {ECO:0000250}.|Poly-Gln.				chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)	p.Q2742Q(2)		NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		agcagcaacagcagcagcagc	0.597																																						ENST00000333577.4																			2	Substitution - coding silent(2)	p.Q2742Q(2)	kidney(2)	NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161						c.(8335-8337)caG>caA		E1A binding protein p400							52	42	46					12																	132547141		2203	4300	6503	SO:0001819	synonymous_variant	57634				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	g.chr12:132547141G>A	U80743	CCDS31929.1, CCDS31929.2	12q24.33	2008-02-01	2002-02-05	2002-02-08		ENSG00000183495			11958	protein-coding gene	gene with protein product		606265	"trinucleotide repeat containing 12"	TNRC12		9225980, 11509179	Standard	NM_015409		Approved	CAGH32, KIAA1498, P400, KIAA1818, DKFZP434I225	uc001ujn.3	Q96L91		ENST00000333577.4:c.8337G>A	12.37:g.132547141G>A						EP400_ENST00000330386.6_Silent_p.Q2662Q|EP400_ENST00000332482.4_Silent_p.Q2706Q|EP400_ENST00000389562.2_Silent_p.Q2742Q|EP400_ENST00000389561.2_Silent_p.Q2743Q	p.Q2779Q			Q96L91	EP400_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)	48	8446	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)	2779			Interaction with ZNF42 (By similarity).|Poly-Gln.		O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	Silent	SNP	ENST00000333577.4	37	c.8337G>A																																																																																					0.597	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015409		3	42	0	0	0	1	0	3	42					A	132547141	G	A	132547141	2	1	226	1	0	0	0	0	0	0	0	1	5149	962	34	3		3	EP400	12	132547141	Silent	SNP	G	TCGA-HC-7821-01A-12D-2114-08	9933423	132547141	1304754	26	10431											
BRCA2	675	broad.mit.edu	37	chr13	32911291	32911291	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atggttttatatggagacacAggtgataaacaagcaaccca	16	9	9	7	0	0	2	0	1	0	1	0	3	0	2	1	3	3	2	1	3	6	4			TCGA-HC-7821-01A-12D-2114-08	TCGA-HC-7821-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ec36148-fac7-4583-b63e-6e055faa5d8c	f7dc706c-fd50-4f2b-8b98-db4e3e844012	g.chr13:32911291A>T	ENST00000380152.3	+	11	3032	c.2799A>T	c.(2797-2799)acA>acT	p.T933T	BRCA2_ENST00000544455.1_Silent_p.T933T			P51587	BRCA2_HUMAN	breast cancer 2, early onset	933	Interaction with NPM1.				brain development (GO:0007420)|cell aging (GO:0007569)|centrosome duplication (GO:0051298)|cytokinesis (GO:0000910)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|female gonad development (GO:0008585)|hemopoiesis (GO:0030097)|histone H3 acetylation (GO:0043966)|histone H4 acetylation (GO:0043967)|inner cell mass cell proliferation (GO:0001833)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|male meiosis I (GO:0007141)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|nucleotide-excision repair (GO:0006289)|oocyte maturation (GO:0001556)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cytokinesis (GO:0032465)|replication fork protection (GO:0048478)|response to gamma radiation (GO:0010332)|response to UV-C (GO:0010225)|response to X-ray (GO:0010165)|spermatogenesis (GO:0007283)	BRCA2-MAGE-D1 complex (GO:0033593)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)|secretory granule (GO:0030141)	gamma-tubulin binding (GO:0043015)|H3 histone acetyltransferase activity (GO:0010484)|H4 histone acetyltransferase activity (GO:0010485)|protease binding (GO:0002020)|single-stranded DNA binding (GO:0003697)			NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		ATGGAGACACAGGTGATAAAC	0.343			"D, Mis, N, F, S"		"breast, ovarian, pancreatic"	"breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)																											Esophageal Squamous(138;838 1285 7957 30353 30468 36915 49332)	ENST00000544455.1			yes	Rec	yes	Hereditary breast/ovarian cancer	13	13q12	675	"D, Mis, N, F, S"	familial breast/ovarian cancer gene 2			"L, E"		"breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"	"breast, ovarian, pancreatic"		0				NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183						c.(2797-2799)acA>acT	Homologous recombination	breast cancer 2, early onset							61	64	63					13																	32911291		2203	4297	6500	SO:0001819	synonymous_variant	675	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	Familial Cancer Database	incl.: Hereditary Pancreatic Adenocarcinoma, Insulin-Dependent Diabetes Mellitus - Exocrine Insufficiency - Familial Pancreatic Cancer, PNCA1;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;HPC; ;FANCD1;Pancytopenia Dysmelia, FA (several complementation groups)	cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding	g.chr13:32911291A>T	U43746	CCDS9344.1	13q12-q13	2014-09-17	2003-10-14		ENSG00000139618	ENSG00000139618		"Fanconi anemia, complementation groups"	1101	protein-coding gene	gene with protein product	"BRCA1/BRCA2-containing complex, subunit 2"	600185	"Fanconi anemia, complementation group D1"	FANCD1, FACD, FANCD		8091231, 7581463, 15057823	Standard	NM_000059		Approved	FAD, FAD1, BRCC2	uc001uub.1	P51587	OTTHUMG00000017411	ENST00000380152.3:c.2799A>T	13.37:g.32911291A>T		TCGA Ovarian(8;0.087)				BRCA2_ENST00000380152.3_Silent_p.T933T	p.T933T	NM_000059.3	NP_000050.2	P51587	BRCA2_HUMAN		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)	11	3026	+		Lung SC(185;0.0262)	933			Interaction with NPM1.		O00183|O15008|Q13879|Q5TBJ7	Silent	SNP	ENST00000380152.3	37	c.2799A>T	CCDS9344.1																																																																																				0.343	BRCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046000.2	NM_000059		23	39	0	0	0	1	0	23	39					T	32911291	A	T	32911291	2	4	226	1	0	0	0	0	0	0	0	1	1499	175	7	5		5	BRCA2	13	32911291	Silent	SNP	A	TCGA-HC-7821-01A-12D-2114-08		32911291	82258587	27	10432											
C14orf179	112752	broad.mit.edu	37	chr14	76543017	76543017	+	Intron	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcacagagatttggggctggCttcattggaagaggcaggta	10	10	15	6	0	2	2	2	0	0	2	2	4	2	3	0	6	0	4	0	6	2	4			TCGA-HC-7821-01A-12D-2114-08	TCGA-HC-7821-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ec36148-fac7-4583-b63e-6e055faa5d8c	f7dc706c-fd50-4f2b-8b98-db4e3e844012	g.chr14:76543017C>A	ENST00000314067.6	+	6	329				IFT43_ENST00000238628.6_Missense_Mutation_p.A98D	NM_001102564.1	NP_001096034.1	Q96FT9	IFT43_HUMAN	intraflagellar transport 43						cilium morphogenesis (GO:0060271)|intraciliary retrograde transport (GO:0035721)	cytoplasm (GO:0005737)|intraciliary transport particle A (GO:0030991)|microtubule cytoskeleton (GO:0015630)|microtubule organizing center (GO:0005815)				endometrium(1)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15						TTGGGGCTGGCTTCATTGGAA	0.463																																						ENST00000238628.6																			0				endometrium(1)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15						c.(292-294)gCt>gAt		intraflagellar transport 43 homolog (Chlamydomonas)							114	99	104					14																	76543017		2203	4300	6503	SO:0001627	intron_variant	112752				cilium morphogenesis|intraflagellar retrograde transport			g.chr14:76543017C>A	BC010436	CCDS9847.1, CCDS41973.1, CCDS58330.1	14q24.3	2014-07-03	2014-07-03	2011-06-09				"Intraflagellar transport homologs"	29669	protein-coding gene	gene with protein product		614068	"chromosome 14 open reading frame 179", "intraflagellar transport 43 homolog (Chlamydomonas)"	C14orf179		21378380	Standard	NM_052873		Approved	FLJ32173, MGC16028	uc010asm.1	Q96FT9		ENST00000314067.6:c.296-5621C>A	14.37:g.76543017C>A						IFT43_ENST00000314067.6_Intron	p.A98D	NM_052873.2	NP_443105.2	Q96FT9	IFT43_HUMAN			4	298	+			97					B3KPT6|B4DZI9|G3V385|O95418|Q9ULA9	Missense_Mutation	SNP	ENST00000314067.6	37	c.293C>A	CCDS41973.1	.	.	.	.	.	.	.	.	.	.	C	10.88	1.476872	0.26511	.	.	ENSG00000119650	ENST00000238628	T	0.43688	0.94	3.79	0.864	0.19068	.	0.694352	0.14643	N	0.307049	T	0.19644	0.0472	.	.	.	0.09310	N	0.999997	P	0.36535	0.557	B	0.30105	0.111	T	0.14811	-1.0459	9	0.17369	T	0.5	-12.6066	6.2266	0.20711	0.3632:0.4409:0.1959:0.0	.	98	Q96FT9-2	.	D	98	ENSP00000238628:A98D	ENSP00000238628:A98D	A	+	2	0	IFT43	75612770	0.034000	0.19679	0.001000	0.08648	0.997000	0.91878	0.601000	0.24119	0.182000	0.20032	0.561000	0.74099	GCT		0.463	IFT43-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_052873		3	46	1	0	1	1	1	3	46					A	76543017	C	A	76543017	1	1	226	0	1	0	0	0	0	0	0	0	1762	797	28	5		5	C14orf179	14	76543017	Intron	SNP	C	TCGA-HC-7821-01A-12D-2114-08		76543017	30806523	28	10433											
OTUD7A	161725	broad.mit.edu	37	chr15	31776773	31776773	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcgtcttgtccttctccttgCgctgcttctccttctccttg	0	18	7	16	2	4	0	0	0	4	0	8	0	5	0	4	0	2	2	4	0	0	6			TCGA-HC-7821-01A-12D-2114-08	TCGA-HC-7821-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ec36148-fac7-4583-b63e-6e055faa5d8c	f7dc706c-fd50-4f2b-8b98-db4e3e844012	g.chr15:31776773C>T	ENST00000307050.4	-	11	1597	c.1505G>A	c.(1504-1506)cGc>cAc	p.R502H	OTUD7A_ENST00000382902.1_Missense_Mutation_p.R509H	NM_130901.1	NP_570971.1	Q8TE49	OTU7A_HUMAN	OTU deubiquitinase 7A	502					protein K11-linked deubiquitination (GO:0035871)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			endometrium(7)|large_intestine(4)|lung(11)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	30		all_lung(180;1.6e-09)		all cancers(64;2.44e-19)|Epithelial(43;6.82e-14)|GBM - Glioblastoma multiforme(186;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00189)|Lung(196;0.208)		cttctccttgcgctgcttctc	0.587																																						ENST00000382902.1																			0				endometrium(7)|large_intestine(4)|lung(11)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	30						c.(1525-1527)cGc>cAc		OTU domain containing 7A							94	69	77					15																	31776773		2200	4300	6500	SO:0001583	missense	161725					cytoplasm|nucleus	cysteine-type peptidase activity|DNA binding|zinc ion binding	g.chr15:31776773C>T	AJ430383	CCDS10026.1	15q13.1	2014-02-24	2014-02-24	2006-07-07	ENSG00000169918	ENSG00000169918		"OTU domain containing"	20718	protein-coding gene	gene with protein product		612024	"chromosome 15 open reading frame 16", "OTU domain containing 7", "OTU domain containing 7A"	C15orf16, OTUD7		23827681	Standard	NM_130901		Approved	CEZANNE2	uc001zfq.3	Q8TE49	OTTHUMG00000129275	ENST00000307050.4:c.1505G>A	15.37:g.31776773C>T	ENSP00000305926:p.Arg502His					OTUD7A_ENST00000307050.4_Missense_Mutation_p.R502H	p.R509H			Q8TE49	OTU7A_HUMAN		all cancers(64;2.44e-19)|Epithelial(43;6.82e-14)|GBM - Glioblastoma multiforme(186;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00189)|Lung(196;0.208)	11	1618	-		all_lung(180;1.6e-09)	502					Q8IWK5	Missense_Mutation	SNP	ENST00000307050.4	37	c.1526G>A	CCDS10026.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.216917	0.79352	.	.	ENSG00000169918	ENST00000307050;ENST00000382902	T;T	0.32515	1.45;1.45	4.88	4.88	0.63580	.	0.100526	0.64402	D	0.000011	T	0.43211	0.1237	N	0.22421	0.69	0.41016	D	0.985044	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.991	T	0.41556	-0.9502	10	0.44086	T	0.13	-24.4531	18.0667	0.89392	0.0:1.0:0.0:0.0	.	509;502	Q8TE49-2;Q8TE49	.;OTU7A_HUMAN	H	502;509	ENSP00000305926:R502H;ENSP00000372358:R509H	ENSP00000305926:R502H	R	-	2	0	OTUD7A	29564065	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.082000	0.76851	2.241000	0.73720	0.650000	0.86243	CGC		0.587	OTUD7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251393.2	NM_130901		5	13	0	0	0	1	0	5	13					T	31776773	C	T	31776773	3	4	226	1	0	0	0	0	1	0	0	0	11318	768	27	1	1279	1	OTUD7A	15	31776773	Missense_Mutation	SNP	C	TCGA-HC-7821-01A-12D-2114-08		31776773	70754619	29	10434											
EARS2	124454	broad.mit.edu	37	chr16	23555840	23555840	+	Silent	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agctgaggttcttaccggggCgtctggtggttccgcaaggc	5	10	16	10	3	2	1	0	1	2	0	3	1	3	1	2	6	2	4	2	6	2	3			TCGA-HC-7821-01A-12D-2114-08	TCGA-HC-7821-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ec36148-fac7-4583-b63e-6e055faa5d8c	f7dc706c-fd50-4f2b-8b98-db4e3e844012	g.chr16:23555840C>G	ENST00000563459.1	-	3	486	c.480G>C	c.(478-480)acG>acC	p.T160T	EARS2_ENST00000449606.1_Silent_p.T160T|EARS2_ENST00000563232.1_Silent_p.T160T|EARS2_ENST00000564501.1_Silent_p.T160T|EARS2_ENST00000564987.1_5'UTR			Q5JPH6	SYEM_HUMAN	glutamyl-tRNA synthetase 2, mitochondrial	160					gene expression (GO:0010467)|glutamyl-tRNA aminoacylation (GO:0006424)|tRNA aminoacylation for mitochondrial protein translation (GO:0070127)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|glutamate-tRNA ligase activity (GO:0004818)|glutamate-tRNA(Gln) ligase activity (GO:0050561)|tRNA binding (GO:0000049)	p.T160T(1)		central_nervous_system(1)|endometrium(1)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	8				GBM - Glioblastoma multiforme(48;0.0353)		CTTACCGGGGCGTCTGGTGGT	0.542																																						ENST00000449606.1																			1	Substitution - coding silent(1)	p.T160T(1)	central_nervous_system(1)	central_nervous_system(1)|endometrium(1)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	8						c.(478-480)acG>acC		glutamyl-tRNA synthetase 2, mitochondrial	L-Glutamic Acid(DB00142)						43	48	46					16																	23555840		1958	4133	6091	SO:0001819	synonymous_variant	124454				glutamyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|glutamate-tRNA ligase activity|RNA binding	g.chr16:23555840C>G	AB075850	CCDS42132.1	16p12.2	2014-05-06	2012-10-26		ENSG00000103356	ENSG00000103356	6.1.1.17	"Aminoacyl tRNA synthetases / Class I"	29419	protein-coding gene	gene with protein product	"glutamate tRNA ligase 2, mitochondrial"	612799	"glutamyl-tRNA synthetase 2, mitochondrial (putative)"			15779907, 19805282, 22492562	Standard	NM_001083614		Approved	KIAA1970, MSE1	uc002dlt.4	Q5JPH6	OTTHUMG00000177018	ENST00000563459.1:c.480G>C	16.37:g.23555840C>G						EARS2_ENST00000564987.1_5'UTR|EARS2_ENST00000564501.1_Silent_p.T160T|EARS2_ENST00000563232.1_Silent_p.T160T|EARS2_ENST00000563459.1_Silent_p.T160T	p.T160T	NM_001083614.1	NP_001077083.1	Q5JPH6	SYEM_HUMAN		GBM - Glioblastoma multiforme(48;0.0353)	3	511	-			160					B3KTT2|D3DWF1|Q86YH3|Q8TF31	Silent	SNP	ENST00000563459.1	37	c.480G>C	CCDS42132.1																																																																																				0.542	EARS2-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434844.1	NM_133451		5	22	0	0	0	1	0	5	22					G	23555840	C	G	23555840	2	3	226	1	0	0	0	0	0	0	0	1	4878	755	27	5		5	EARS2	16	23555840	Silent	SNP	C	TCGA-HC-7821-01A-12D-2114-08		23555840	66798913	30	10435											
CDH8	1006	broad.mit.edu	37	chr16	62055221	62055221	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgagactgattcatcggagcCatgtaaatgcaagggggaag	13	8	14	6	1	1	2	1	2	0	1	2	5	1	4	1	3	2	2	1	3	4	2			TCGA-HC-7821-01A-12D-2114-08	TCGA-HC-7821-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ec36148-fac7-4583-b63e-6e055faa5d8c	f7dc706c-fd50-4f2b-8b98-db4e3e844012	g.chr16:62055221C>A	ENST00000577390.1	-	2	1041	c.87G>T	c.(85-87)atG>atT	p.M29I	CDH8_ENST00000299345.6_Missense_Mutation_p.M29I|CDH8_ENST00000577730.1_Missense_Mutation_p.M29I|CDH8_ENST00000584337.1_Missense_Mutation_p.M29I	NM_001796.4	NP_001787.2	P55286	CADH8_HUMAN	cadherin 8, type 2	29					adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|response to cold (GO:0009409)|synaptic transmission, glutamatergic (GO:0035249)	axon terminus (GO:0043679)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synaptic cleft (GO:0043083)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		TCATCGGAGCCATGTAAATGC	0.448																																						ENST00000577390.1																			0				biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112						c.(85-87)atG>atT		cadherin 8, type 2							79	80	79					16																	62055221		2203	4300	6503	SO:0001583	missense	1006				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr16:62055221C>A	L34060	CCDS10802.1	16q22.1	2010-01-26			ENSG00000150394	ENSG00000150394		"Cadherins / Major cadherins"	1767	protein-coding gene	gene with protein product		603008				9615235, 2059658	Standard	NM_001796		Approved		uc002eog.2	P55286	OTTHUMG00000137493	ENST00000577390.1:c.87G>T	16.37:g.62055221C>A	ENSP00000462701:p.Met29Ile					CDH8_ENST00000577730.1_Missense_Mutation_p.M29I|CDH8_ENST00000584337.1_Missense_Mutation_p.M29I|CDH8_ENST00000299345.6_Missense_Mutation_p.M29I	p.M29I	NM_001796.4	NP_001787.2	P55286	CADH8_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)	2	1041	-		Ovarian(137;0.0799)|Melanoma(118;0.16)	29					B3KWC1|Q14DC6|Q9ULB2	Missense_Mutation	SNP	ENST00000577390.1	37	c.87G>T	CCDS10802.1	.	.	.	.	.	.	.	.	.	.	C	13.69	2.312150	0.40895	.	.	ENSG00000150394	ENST00000299345	T	0.53640	0.61	6.17	5.21	0.72293	.	0.751666	0.13295	N	0.398703	T	0.41581	0.1165	L	0.36672	1.1	0.31845	N	0.62303	B	0.06786	0.001	B	0.06405	0.002	T	0.41324	-0.9515	10	0.20046	T	0.44	.	17.5427	0.87852	0.0:0.8763:0.1237:0.0	.	29	P55286	CADH8_HUMAN	I	29	ENSP00000299345:M29I	ENSP00000299345:M29I	M	-	3	0	CDH8	60612722	1.000000	0.71417	0.930000	0.37139	0.846000	0.48090	5.521000	0.67086	1.586000	0.49944	0.655000	0.94253	ATG		0.448	CDH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268754.3	NM_001796		7	62	1	0	0.000442599	1	0.000474214	7	62					A	62055221	C	A	62055221	3	1	226	1	0	0	0	0	1	0	0	0	3116	594	21	5	2356	5	CDH8	16	62055221	Missense_Mutation	SNP	C	TCGA-HC-7821-01A-12D-2114-08	38499381	62055221	28299532	31	10436											
KRT25	147183	broad.mit.edu	37	chr17	38906790	38906790	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccgatctgagcctggatctgCgccagctgcgcacagtagtt	7	9	12	13	3	2	1	0	1	2	0	2	3	2	2	3	1	4	4	3	1	1	2			TCGA-HC-7821-01A-12D-2114-08	TCGA-HC-7821-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ec36148-fac7-4583-b63e-6e055faa5d8c	f7dc706c-fd50-4f2b-8b98-db4e3e844012	g.chr17:38906790C>T	ENST00000312150.4	-	6	1077	c.1017G>A	c.(1015-1017)gcG>gcA	p.A339A		NM_181534.3	NP_853512.1			keratin 25									p.A339A(2)		endometrium(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(4)	16		Breast(137;0.00526)				CCTGGATCTGCGCCAGCTGCG	0.562																																						ENST00000312150.4																			2	Substitution - coding silent(2)	p.A339A(2)	large_intestine(1)|prostate(1)	endometrium(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(4)	16						c.(1015-1017)gcG>gcA		keratin 25							139	141	140					17																	38906790		2203	4300	6503	SO:0001819	synonymous_variant	147183					cytoplasm|intermediate filament	structural molecule activity	g.chr17:38906790C>T	AK129503	CCDS11373.1	17q21.2	2013-01-16	2006-07-17	2006-07-17	ENSG00000204897	ENSG00000204897		"-", "Intermediate filaments type I, keratins (acidic)"	30839	protein-coding gene	gene with protein product			"keratin 25A"	KRT25A		16831889	Standard	NM_181534		Approved		uc002hve.3	Q7Z3Z0	OTTHUMG00000133373	ENST00000312150.4:c.1017G>A	17.37:g.38906790C>T							p.A339A	NM_181534.3	NP_853512.1	Q7Z3Z0	K1C25_HUMAN			6	1077	-		Breast(137;0.00526)	339			Coil 2.|Rod.			Silent	SNP	ENST00000312150.4	37	c.1017G>A	CCDS11373.1																																																																																				0.562	KRT25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257218.1	NM_181534		10	219	0	0	0	1	0	10	219					T	38906790	C	T	38906790	2	4	226	1	0	0	0	0	0	0	0	1	8462	755	27	1		1	KRT25	17	38906790	Silent	SNP	C	TCGA-HC-7821-01A-12D-2114-08		38906790	42288420	32	10437											
KRT33A	3883	broad.mit.edu	37	chr17	39502452	39502452	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagggcccagtggacttgtcAcatgcattggttgtggcgca	7	10	14	10	1	1	0	1	0	0	0	1	1	1	1	1	4	1	3	1	4	0	3			TCGA-HC-7821-01A-12D-2114-08	TCGA-HC-7821-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ec36148-fac7-4583-b63e-6e055faa5d8c	f7dc706c-fd50-4f2b-8b98-db4e3e844012	g.chr17:39502452A>G	ENST00000007735.3	-	7	1178	c.1134T>C	c.(1132-1134)tgT>tgC	p.C378C		NM_004138.3	NP_004129.2	O76009	KT33A_HUMAN	keratin 33A	378	Tail.					extracellular space (GO:0005615)|intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	21		Breast(137;0.000496)				TGGACTTGTCACATGCATTGG	0.522																																						ENST00000007735.3																			0				endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	21						c.(1132-1134)tgT>tgC		keratin 33A							120	111	114					17																	39502452		2203	4300	6503	SO:0001819	synonymous_variant	3883					intermediate filament	protein binding|structural molecule activity	g.chr17:39502452A>G	Y16788	CCDS11388.1	17q21.2	2013-06-20	2006-07-17	2006-07-17	ENSG00000006059	ENSG00000006059		"-", "Intermediate filaments type I, keratins (acidic)"	6450	protein-coding gene	gene with protein product	"hard keratin type I 3I"	602761	"keratin, hair, acidic, 3A"	KRTHA3A		7565656, 16831889	Standard	NM_004138		Approved	Ha-3I, Krt1-3	uc002hwk.2	O76009	OTTHUMG00000133432	ENST00000007735.3:c.1134T>C	17.37:g.39502452A>G							p.C378C	NM_004138.3	NP_004129.2	O76009	KT33A_HUMAN			7	1178	-		Breast(137;0.000496)	378			Tail.		B2RA87|Q6NTB9|Q6ZZB9	Silent	SNP	ENST00000007735.3	37	c.1134T>C	CCDS11388.1																																																																																				0.522	KRT33A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257295.1	NM_004138		31	48	0	0	0	1	0	31	48					G	39502452	A	G	39502452	2	3	226	1	0	0	0	0	0	0	0	1	8469	157	6	4		4	KRT33A	17	39502452	Silent	SNP	A	TCGA-HC-7821-01A-12D-2114-08	595662	39502452	41692758	33	10438											
GATA6	2627	broad.mit.edu	37	chr18	19752073	19752075	+	In_Frame_Del	DEL	ACC	ACC	-																															gcggccgctgaacgggacgtAccaccaccaccaccaccacc																								rs587780342		TCGA-HC-7821-01A-12D-2114-08	TCGA-HC-7821-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ec36148-fac7-4583-b63e-6e055faa5d8c	f7dc706c-fd50-4f2b-8b98-db4e3e844012	g.chr18:19752073_19752075delACC	ENST00000269216.3	+	2	1245_1247	c.968_970delACC	c.(967-972)taccac>tac	p.H333del	GATA6_ENST00000581694.1_In_Frame_Del_p.H333del	NM_005257.4	NP_005248.2	Q92908	GATA6_HUMAN	GATA binding protein 6	333	Poly-His.				blood coagulation (GO:0007596)|cardiac muscle cell differentiation (GO:0055007)|cardiac muscle hypertrophy in response to stress (GO:0014898)|cardiac vascular smooth muscle cell differentiation (GO:0060947)|cellular response to BMP stimulus (GO:0071773)|cellular response to gonadotropin stimulus (GO:0071371)|cellular response to hypoxia (GO:0071456)|Clara cell differentiation (GO:0060486)|endodermal cell fate determination (GO:0007493)|in utero embryonic development (GO:0001701)|intestinal epithelial cell differentiation (GO:0060575)|liver development (GO:0001889)|lung saccule development (GO:0060430)|male gonad development (GO:0008584)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta1 production (GO:0032911)|negative regulation of transforming growth factor beta2 production (GO:0032912)|organ formation (GO:0048645)|outflow tract septum morphogenesis (GO:0003148)|pancreatic A cell differentiation (GO:0003310)|phospholipid metabolic process (GO:0006644)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cardioblast differentiation (GO:0051891)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to growth factor (GO:0070848)|smooth muscle cell differentiation (GO:0051145)|transcription from RNA polymerase II promoter (GO:0006366)|tube morphogenesis (GO:0035239)|type B pancreatic cell differentiation (GO:0003309)|Type II pneumocyte differentiation (GO:0060510)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|protein kinase binding (GO:0019901)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(8)|prostate(1)|skin(1)	18	all_cancers(21;0.00271)|all_epithelial(16;7.31e-05)|Ovarian(2;0.116)|Lung NSC(20;0.123)|all_lung(20;0.246)		STAD - Stomach adenocarcinoma(5;0.106)			AACGGGACGTaccaccaccacca	0.749																																					Colon(8;48 282 46199 46856)|Melanoma(177;170 2725 12489 26999)	ENST00000269216.3																			0				NS(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(8)|prostate(1)|skin(1)	18						c.(967-972)tac>t		GATA binding protein 6				7,118,1445		1,0,5,26,66,687						2.8	1			1	3,218,2733		1,0,1,71,76,1328	no	codingComplex	GATA6	NM_005257.3		2,0,6,97,142,2015	A1A1,A1A2,A1R,A2A2,A2R,RR		7.4814,7.9618,7.6481				10,336,4178				SO:0001651	inframe_deletion	2627				blood coagulation|cardiac vascular smooth muscle cell differentiation|cellular response to hypoxia|intestinal epithelial cell differentiation|male gonad development|negative regulation of apoptosis|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor-beta1 production|negative regulation of transforming growth factor-beta2 production|outflow tract septum morphogenesis|positive regulation of angiogenesis|positive regulation of cell cycle arrest|positive regulation of transcription from RNA polymerase II promoter|response to drug|response to growth factor stimulus		protein binding|protein kinase binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding	g.chr18:19752073_19752075delACC	U66075	CCDS11872.1	18q11-q12	2013-01-25	2001-11-28		ENSG00000141448	ENSG00000141448		"GATA zinc finger domain containing"	4174	protein-coding gene	gene with protein product		601656	"GATA-binding protein 6"			8975704	Standard	XM_005258248		Approved		uc002ktt.2	Q92908	OTTHUMG00000131767	ENST00000269216.3:c.968_970delACC	18.37:g.19752082_19752084delACC	ENSP00000269216:p.His333del					GATA6_ENST00000581694.1_In_Frame_Del_p.YH323del	p.YH323del	NM_005257.4	NP_005248.2	Q92908	GATA6_HUMAN	STAD - Stomach adenocarcinoma(5;0.106)		2	1245_1247	+	all_cancers(21;0.00271)|all_epithelial(16;7.31e-05)|Ovarian(2;0.116)|Lung NSC(20;0.123)|all_lung(20;0.246)		323					B0YJ17|P78327	In_Frame_Del	DEL	ENST00000269216.3	37	c.968_970delACC	CCDS11872.1																																																																																				0.749	GATA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254696.1	NM_005257		2	4						2	4	---	---	---	---	-	19752075	ACC	-	19752073	7	5	226	1	0	1	0	1	0	0	0	0	6258	391	14	0	970	0	GATA6	18	19752073	In_Frame_Del	DEL	ACC	TCGA-HC-7821-01A-12D-2114-08		19752073	58325175	34	10439											
ALPK2	115701	broad.mit.edu	37	chr18	56246187	56246187	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtttttgcttcttgctctgcCtgggttgaaatagcacattc	6	17	9	9	0	2	1	0	1	2	0	3	1	2	1	1	1	4	5	1	1	2	7			TCGA-HC-7821-01A-12D-2114-08	TCGA-HC-7821-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ec36148-fac7-4583-b63e-6e055faa5d8c	f7dc706c-fd50-4f2b-8b98-db4e3e844012	g.chr18:56246187C>T	ENST00000361673.3	-	4	2034	c.1821G>A	c.(1819-1821)caG>caA	p.Q607Q	ALPK2_ENST00000587399.1_5'UTR	NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	607						nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						CTTGCTCTGCCTGGGTTGAAA	0.458											OREG0025011	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000361673.3																			0				NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						c.(1819-1821)caG>caA		alpha-kinase 2							176	157	163					18																	56246187		2203	4300	6503	SO:0001819	synonymous_variant	115701						ATP binding|protein serine/threonine kinase activity	g.chr18:56246187C>T	AY044450	CCDS11966.2	18q21.31	2013-01-11			ENSG00000198796	ENSG00000198796		"Immunoglobulin superfamily / I-set domain containing"	20565	protein-coding gene	gene with protein product	"heart alpha-kinase"					10021370	Standard	NM_052947		Approved	HAK	uc002lhj.4	Q86TB3	OTTHUMG00000132755	ENST00000361673.3:c.1821G>A	18.37:g.56246187C>T			OREG0025011	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1014	ALPK2_ENST00000587399.1_5'UTR	p.Q607Q	NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN			4	2034	-			607					Q6ZUX0|Q8NAT5|Q96L95	Silent	SNP	ENST00000361673.3	37	c.1821G>A	CCDS11966.2																																																																																				0.458	ALPK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256126.1	NM_052947		37	16	0	0	0	1	0	37	16					T	56246187	C	T	56246187	2	4	226	1	0	0	0	0	0	0	0	1	545	680	24	3		3	ALPK2	18	56246187	Silent	SNP	C	TCGA-HC-7821-01A-12D-2114-08	36494114	56246187	21831061	35	10440											
POLD1	5424	broad.mit.edu	37	chr19	50905313	50905313	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gctgaacttggccatcagccGggacagtcgcggggggaggg	7	5	19	10	3	1	1	1	1	0	0	2	3	1	3	2	6	2	1	2	6	1	1	rs141976385		TCGA-HC-7821-01A-12D-2114-08	TCGA-HC-7821-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ec36148-fac7-4583-b63e-6e055faa5d8c	f7dc706c-fd50-4f2b-8b98-db4e3e844012	g.chr19:50905313G>A	ENST00000440232.2	+	5	574	c.521G>A	c.(520-522)cGg>cAg	p.R174Q	POLD1_ENST00000595904.1_Missense_Mutation_p.R174Q|POLD1_ENST00000599857.1_Missense_Mutation_p.R174Q	NM_001256849.1|NM_002691.3	NP_001243778.1|NP_002682.2	P28340	DPOD1_HUMAN	polymerase (DNA directed), delta 1, catalytic subunit	174					base-excision repair (GO:0006284)|base-excision repair, gap-filling (GO:0006287)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication proofreading (GO:0045004)|DNA replication, removal of RNA primer (GO:0043137)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA synthesis involved in DNA repair (GO:0000731)|fatty acid homeostasis (GO:0055089)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|regulation of mitotic cell cycle (GO:0007346)|response to UV (GO:0009411)|small molecule metabolic process (GO:0044281)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|delta DNA polymerase complex (GO:0043625)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleotide-excision repair complex (GO:0000109)|nucleus (GO:0005634)	3'-5' exonuclease activity (GO:0008408)|4 iron, 4 sulfur cluster binding (GO:0051539)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(6)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		all_neural(266;0.0571)		OV - Ovarian serous cystadenocarcinoma(262;0.00794)|GBM - Glioblastoma multiforme(134;0.0195)		GCCATCAGCCGGGACAGTCGC	0.667								DNA polymerases (catalytic subunits)																														ENST00000440232.2																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(6)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						c.(520-522)cGg>cAg	DNA polymerases (catalytic subunits)	polymerase (DNA directed), delta 1, catalytic subunit		G	GLN/ARG	2,4404	4.2+/-10.8	0,2,2201	35	41	39		521	3.2	1	19	dbSNP_134	39	0,8600		0,0,4300	no	missense	POLD1	NM_002691.2	43	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	benign	174/1108	50905313	2,13004	2203	4300	6503	SO:0001583	missense	5424				base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|DNA synthesis involved in DNA repair|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|response to UV|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	delta DNA polymerase complex|nucleoplasm|nucleotide-excision repair complex	3'-5'-exodeoxyribonuclease activity|chromatin binding|DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding|protein binding	g.chr19:50905313G>A		CCDS12795.1	19q13.3	2014-09-17	2012-05-18		ENSG00000062822	ENSG00000062822		"DNA polymerases"	9175	protein-coding gene	gene with protein product	"CDC2 homolog (S. cerevisiae)"	174761	"polymerase (DNA directed), delta 1, catalytic subunit (125kD)"	POLD		1722322	Standard	NM_001256849		Approved	CDC2	uc002psc.5	P28340		ENST00000440232.2:c.521G>A	19.37:g.50905313G>A	ENSP00000406046:p.Arg174Gln					POLD1_ENST00000599857.1_Missense_Mutation_p.R174Q|POLD1_ENST00000595904.1_Missense_Mutation_p.R174Q	p.R174Q	NM_001256849.1|NM_002691.3	NP_001243778.1|NP_002682.2	P28340	DPOD1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00794)|GBM - Glioblastoma multiforme(134;0.0195)	5	574	+		all_neural(266;0.0571)	174					Q8NER3|Q96H98	Missense_Mutation	SNP	ENST00000440232.2	37	c.521G>A	CCDS12795.1	.	.	.	.	.	.	.	.	.	.	G	5.013	0.188152	0.09547	4.54E-4	0.0	ENSG00000062822	ENST00000440232;ENST00000376930	T	0.23552	1.9	4.2	3.15	0.36227	DNA-directed DNA polymerase, family B, exonuclease domain (1);Ribonuclease H-like (1);	0.474943	0.19919	N	0.103127	T	0.09774	0.0240	N	0.03608	-0.345	0.31983	N	0.605582	B;B	0.17667	0.023;0.011	B;B	0.17722	0.019;0.003	T	0.23655	-1.0182	10	0.13108	T	0.6	-17.5772	7.9713	0.30130	0.1983:0.0:0.8017:0.0	.	174;174	E7EVW0;P28340	.;DPOD1_HUMAN	Q	174;175	ENSP00000406046:R174Q	ENSP00000366129:R175Q	R	+	2	0	POLD1	55597125	1.000000	0.71417	1.000000	0.80357	0.024000	0.10985	4.344000	0.59354	0.902000	0.36520	0.462000	0.41574	CGG		0.667	POLD1-002	KNOWN	alternative_5_UTR|NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464732.1			3	99	0	0	0	1	0	3	99					A	50905313	G	A	50905313	3	1	226	1	0	0	0	0	1	0	0	0	12190	1116	39	2	535	2	POLD1	19	50905313	Missense_Mutation	SNP	G	TCGA-HC-7821-01A-12D-2114-08		50905313	8223670	36	10441											
NLRP12	91662	broad.mit.edu	37	chr19	54308673	54308673	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agctgcagagaggtcctcgcAggctgagctggagatgcggc	8	6	17	10	2	0	3	0	1	0	2	2	5	1	3	1	4	4	5	1	4	0	0			TCGA-HC-7821-01A-12D-2114-08	TCGA-HC-7821-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ec36148-fac7-4583-b63e-6e055faa5d8c	f7dc706c-fd50-4f2b-8b98-db4e3e844012	g.chr19:54308673A>G	ENST00000324134.6	-	5	2443	c.2275T>C	c.(2275-2277)Tgc>Cgc	p.C759R	NLRP12_ENST00000391775.3_Missense_Mutation_p.C759R|NLRP12_ENST00000345770.5_Missense_Mutation_p.C760R|NLRP12_ENST00000354278.3_Missense_Mutation_p.C759R|NLRP12_ENST00000391772.1_Missense_Mutation_p.C760R|NLRP12_ENST00000351894.4_Missense_Mutation_p.C759R|NLRP12_ENST00000391773.1_Missense_Mutation_p.C760R|NLRP12_ENST00000535162.1_Missense_Mutation_p.C759R	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12	759					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|cellular response to cytokine stimulus (GO:0071345)|dendritic cell migration (GO:0036336)|negative regulation of cytokine secretion (GO:0050710)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 secretion (GO:0050711)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of NIK/NF-kappaB signaling (GO:1901223)|negative regulation of protein autophosphorylation (GO:0031953)|negative regulation of signal transduction (GO:0009968)|negative regulation of Toll signaling pathway (GO:0045751)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of MHC class I biosynthetic process (GO:0045345)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of interleukin-18 biosynthetic process (GO:0045381)|release of cytoplasmic sequestered NF-kappaB (GO:0008588)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)			NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		AGGTCCTCGCAGGCTGAGCTG	0.498																																						ENST00000324134.6																			0				NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80						c.(2275-2277)Tgc>Cgc		NLR family, pyrin domain containing 12							91	91	91					19																	54308673		2203	4300	6503	SO:0001583	missense	91662				negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding	g.chr19:54308673A>G	AY095146	CCDS12864.1, CCDS62784.1, CCDS62785.1	19q13.42	2014-09-17	2006-12-08	2006-12-08	ENSG00000142405	ENSG00000142405		"Nucleotide-binding domain and leucine rich repeat containing"	22938	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 12"	609648	"NACHT, leucine rich repeat and PYD containing 12"	NALP12		12563287, 12019269	Standard	NM_001277129		Approved	RNO2, PYPAF7, Monarch1, PAN6, CLR19.3	uc002qcj.5	P59046	OTTHUMG00000060776	ENST00000324134.6:c.2275T>C	19.37:g.54308673A>G	ENSP00000319377:p.Cys759Arg					NLRP12_ENST00000391773.1_Missense_Mutation_p.C760R|NLRP12_ENST00000354278.3_Missense_Mutation_p.C759R|NLRP12_ENST00000351894.4_Missense_Mutation_p.C759R|NLRP12_ENST00000345770.5_Missense_Mutation_p.C760R|NLRP12_ENST00000535162.1_Missense_Mutation_p.C759R|NLRP12_ENST00000391772.1_Missense_Mutation_p.C760R|NLRP12_ENST00000391775.3_Missense_Mutation_p.C759R	p.C759R	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN		GBM - Glioblastoma multiforme(134;0.026)	5	2443	-	Ovarian(34;0.19)		759					A8MTQ2|B3KTE7|Q8NEU4|Q9BY26	Missense_Mutation	SNP	ENST00000324134.6	37	c.2275T>C	CCDS12864.1	.	.	.	.	.	.	.	.	.	.	A	16.63	3.176982	0.57692	.	.	ENSG00000142405	ENST00000324134;ENST00000535162;ENST00000351894;ENST00000354278;ENST00000358661;ENST00000391775;ENST00000391773;ENST00000345770;ENST00000391772	T;T;T;T;T;T;T	0.53640	0.61;0.61;0.61;0.61;0.61;0.61;0.61	3.32	3.32	0.38043	.	.	.	.	.	T	0.73822	0.3636	H	0.95982	3.75	0.53688	D	0.999979	D;D;D;D;D	0.89917	0.999;0.991;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.996;0.949;0.999;0.999;0.999	T	0.76247	-0.3029	9	0.38643	T	0.18	.	8.3282	0.32169	1.0:0.0:0.0:0.0	.	760;42;759;759;759	F2Z321;P59046-5;A8K407;A8MTQ2;P59046	.;.;.;.;NAL12_HUMAN	R	759;759;759;759;42;759;760;760;760	ENSP00000319377:C759R;ENSP00000438030:C759R;ENSP00000340473:C759R;ENSP00000346231:C759R;ENSP00000375655:C759R;ENSP00000375653:C760R;ENSP00000375652:C760R	ENSP00000319377:C759R	C	-	1	0	NLRP12	59000485	1.000000	0.71417	0.066000	0.19879	0.310000	0.27922	4.234000	0.58658	1.543000	0.49345	0.241000	0.17934	TGC		0.498	NLRP12-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000134340.1	NM_144687		3	103	0	0	0	1	0	3	103					G	54308673	A	G	54308673	3	3	226	1	0	0	0	0	1	0	0	0	10474	188	7	4	934	4	NLRP12	19	54308673	Missense_Mutation	SNP	A	TCGA-HC-7821-01A-12D-2114-08	3403360	54308673	4820310	37	10442											
CNOT3	4849	broad.mit.edu	37	chr19	54652183	54652183	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcgtccagcctagcggaggcGgaggcggcggcagcggaggt	6	3	21	11	6	0	0	0	0	0	0	1	3	1	3	2	8	3	1	2	8	1	1			TCGA-HC-7821-01A-12D-2114-08	TCGA-HC-7821-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ec36148-fac7-4583-b63e-6e055faa5d8c	f7dc706c-fd50-4f2b-8b98-db4e3e844012	g.chr19:54652183G>A	ENST00000406403.1	+	10	2798	c.1195G>A	c.(1195-1197)Gga>Aga	p.G399R	CNOT3_ENST00000358389.3_Missense_Mutation_p.G218R|CNOT3_ENST00000221232.5_Missense_Mutation_p.G399R			O75175	CNOT3_HUMAN	CCR4-NOT transcription complex, subunit 3	399	Gly/Ser-rich.				gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|regulation of stem cell maintenance (GO:2000036)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|transcription, DNA-templated (GO:0006351)|trophectodermal cell differentiation (GO:0001829)	CCR4-NOT complex (GO:0030014)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|nucleus (GO:0005634)				endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(7)|urinary_tract(3)	28	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					TAgcggaggcggaggcggcgg	0.716																																						ENST00000406403.1																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(7)|urinary_tract(3)	28						c.(1195-1197)Gga>Aga		CCR4-NOT transcription complex, subunit 3							6	7	7					19																	54652183		2030	3991	6021	SO:0001583	missense	4849				nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding	g.chr19:54652183G>A	AF180474	CCDS12880.1	19q13.4	2011-02-14			ENSG00000088038	ENSG00000088038			7879	protein-coding gene	gene with protein product	"NOT3 (negative regulator of transcription 3, yeast) homolog"	604910		NOT3		10637334, 9734811	Standard	NM_014516		Approved	NOT3H, KIAA0691, LENG2	uc002qdj.2	O75175	OTTHUMG00000066468	ENST00000406403.1:c.1195G>A	19.37:g.54652183G>A	ENSP00000383954:p.Gly399Arg					CNOT3_ENST00000358389.3_Missense_Mutation_p.G218R|CNOT3_ENST00000221232.5_Missense_Mutation_p.G399R	p.G399R			O75175	CNOT3_HUMAN			10	2798	+	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)		399			Gly/Ser-rich.		Q9NZN7|Q9UF76	Missense_Mutation	SNP	ENST00000406403.1	37	c.1195G>A	CCDS12880.1	.	.	.	.	.	.	.	.	.	.	g	5.562	0.288524	0.10513	.	.	ENSG00000088038	ENST00000221232;ENST00000358389;ENST00000406403	T;D;T	0.81908	0.96;-1.55;0.96	0.744	0.744	0.18353	.	1.146510	0.06484	N	0.733306	T	0.63212	0.2492	N	0.08118	0	0.09310	N	1	B;B;B	0.13594	0.002;0.004;0.008	B;B;B	0.01281	0.0;0.0;0.0	T	0.51284	-0.8725	10	0.26408	T	0.33	-1.4779	3.0918	0.06296	0.3131:0.0:0.6869:0.0	.	399;399;323	B7Z6J7;O75175;Q6ZMJ6	.;CNOT3_HUMAN;.	R	399;218;399	ENSP00000221232:G399R;ENSP00000351159:G218R;ENSP00000383954:G399R	ENSP00000221232:G399R	G	+	1	0	CNOT3	59343995	0.848000	0.29623	0.006000	0.13384	0.007000	0.05969	1.309000	0.33539	0.718000	0.32166	0.473000	0.43528	GGA		0.716	CNOT3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142130.3	NM_014516		9	14	0	0	0	1	0	9	14					A	54652183	G	A	54652183	3	1	226	1	0	0	0	0	1	0	0	0	3620	1117	39	2	1233	2	CNOT3	19	54652183	Missense_Mutation	SNP	G	TCGA-HC-7821-01A-12D-2114-08	343510	54652183	4476800	38	10443											
LILRB5	10990	broad.mit.edu	37	chr19	54754732	54754732	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggaggctcagttgcctccCgtctgagggtcaagctgtgt	6	10	15	10	1	3	1	2	1	1	0	4	3	4	2	2	3	2	3	2	3	1	1	rs374184163		TCGA-HC-7821-01A-12D-2114-08	TCGA-HC-7821-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ec36148-fac7-4583-b63e-6e055faa5d8c	f7dc706c-fd50-4f2b-8b98-db4e3e844012	g.chr19:54754732C>A	ENST00000316219.5	-	13	1798	c.1691G>T	c.(1690-1692)cGg>cTg	p.R564L	LILRB5_ENST00000450632.1_3'UTR|LILRB5_ENST00000449561.2_Missense_Mutation_p.R565L|CTD-2337J16.1_ENST00000595133.1_lincRNA|LILRB5_ENST00000345866.6_Missense_Mutation_p.R465L	NM_001081442.1|NM_006840.3	NP_001074911.1|NP_006831.1	O75023	LIRB5_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5	564					cell surface receptor signaling pathway (GO:0007166)|defense response (GO:0006952)|immune system process (GO:0002376)	integral component of membrane (GO:0016021)	transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		AGTTGCCTCCCGTCTGAGGGT	0.627																																						ENST00000316219.5																			0				NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	56						c.(1690-1692)cGg>cTg		leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5							67	68	68					19																	54754732		2203	4300	6503	SO:0001583	missense	0				cell surface receptor linked signaling pathway|defense response	integral to membrane	transmembrane receptor activity	g.chr19:54754732C>A	AF025534	CCDS12885.1, CCDS42611.1, CCDS46176.1	19q13.4	2013-01-11			ENSG00000105609	ENSG00000105609		"Leukocyte immunoglobulin-like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6609	protein-coding gene	gene with protein product		604814				9548455	Standard	NM_006840		Approved	LIR-8, LIR8, CD85c	uc002qey.3	O75023	OTTHUMG00000066636	ENST00000316219.5:c.1691G>T	19.37:g.54754732C>A	ENSP00000320390:p.Arg564Leu					LILRB5_ENST00000345866.6_Missense_Mutation_p.R465L|LILRB5_ENST00000450632.1_3'UTR|LILRB5_ENST00000449561.2_Missense_Mutation_p.R565L	p.R564L	NM_001081442.1|NM_006840.3	NP_001074911.1|NP_006831.1	O75023	LIRB5_HUMAN		GBM - Glioblastoma multiforme(193;0.105)	13	1798	-	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)		564					Q8N760	Missense_Mutation	SNP	ENST00000316219.5	37	c.1691G>T	CCDS12885.1	.	.	.	.	.	.	.	.	.	.	C	12.76	2.034283	0.35893	.	.	ENSG00000105609	ENST00000316219;ENST00000449561;ENST00000345866	T;T;T	0.00537	6.79;6.8;6.72	2.75	-1.02	0.10135	.	.	.	.	.	T	0.00875	0.0029	M	0.80616	2.505	0.09310	N	1	B;B;P	0.52061	0.211;0.131;0.95	B;B;P	0.45829	0.122;0.123;0.494	T	0.41840	-0.9486	9	0.87932	D	0	.	6.1983	0.20561	0.0:0.5163:0.0:0.4837	.	465;565;564	O75023-2;O75023-3;O75023	.;.;LIRB5_HUMAN	L	564;565;465	ENSP00000320390:R564L;ENSP00000406478:R565L;ENSP00000263430:R465L	ENSP00000320390:R564L	R	-	2	0	LILRB5	59446544	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-1.237000	0.02922	-0.469000	0.06911	-0.482000	0.04802	CGG		0.627	LILRB5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000142877.2			13	54	1	0	9.16793e-09	1	1.05784e-08	13	54					A	54754732	C	A	54754732	3	1	226	1	0	0	0	0	1	0	0	0	8794	652	23	5	85	5	LILRB5	19	54754732	Missense_Mutation	SNP	C	TCGA-HC-7821-01A-12D-2114-08	102549	54754732	4374251	39	10444											
NLRP8	126205	broad.mit.edu	37	chr19	56466879	56466879	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggatcagacgggagtcacCgccttccttggcatgagtat	8	10	12	11	2	2	2	2	1	0	1	3	4	3	4	3	3	0	2	3	3	1	3			TCGA-HC-7821-01A-12D-2114-08	TCGA-HC-7821-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ec36148-fac7-4583-b63e-6e055faa5d8c	f7dc706c-fd50-4f2b-8b98-db4e3e844012	g.chr19:56466879C>T	ENST00000291971.3	+	3	1526	c.1455C>T	c.(1453-1455)acC>acT	p.T485T	NLRP8_ENST00000590542.1_Silent_p.T485T	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	485	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				neuron death (GO:0070997)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)			breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		CGGGAGTCACCGCCTTCCTTG	0.488																																						ENST00000291971.3																			0				breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35						c.(1453-1455)acC>acT		NLR family, pyrin domain containing 8							166	149	155					19																	56466879		2203	4300	6503	SO:0001819	synonymous_variant	126205					cytoplasm	ATP binding	g.chr19:56466879C>T	AY154463	CCDS12937.1	19q13.43	2008-02-05	2006-12-08	2006-12-08		ENSG00000179709		"Nucleotide-binding domain and leucine rich repeat containing"	22940	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 8"	609659	"NACHT, leucine rich repeat and PYD containing 8"	NALP8		12563287	Standard	NM_176811		Approved	NOD16, PAN4, CLR19.2	uc002qmh.3	Q86W28		ENST00000291971.3:c.1455C>T	19.37:g.56466879C>T						NLRP8_ENST00000590542.1_Silent_p.T485T	p.T485T	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN		GBM - Glioblastoma multiforme(193;0.0695)	3	1526	+		Colorectal(82;0.000147)|Ovarian(87;0.17)	485			NACHT.		Q7RTR4	Silent	SNP	ENST00000291971.3	37	c.1455C>T	CCDS12937.1																																																																																				0.488	NLRP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457462.1	NM_176811		63	80	0	0	0	1	0	63	80					T	56466879	C	T	56466879	2	4	226	1	0	0	0	0	0	0	0	1	10483	639	23	2		2	NLRP8	19	56466879	Silent	SNP	C	TCGA-HC-7821-01A-12D-2114-08	1712147	56466879	2662104	40	10445											
C20orf85	128602	broad.mit.edu	37	chr20	56726068	56726068	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcggctgaacgcatgaacctTgtgggtcaggatgagatctg	9	9	15	8	2	2	3	1	3	1	1	2	5	2	4	1	3	2	2	1	3	2	1			TCGA-HC-7821-01A-12D-2114-08	TCGA-HC-7821-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ec36148-fac7-4583-b63e-6e055faa5d8c	f7dc706c-fd50-4f2b-8b98-db4e3e844012	g.chr20:56726068T>G	ENST00000371168.3	+	1	109	c.48T>G	c.(46-48)ctT>ctG	p.L16L		NM_178456.2	NP_848551.1	Q9H1P6	CT085_HUMAN	chromosome 20 open reading frame 85	16										kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	13	all_epithelial(3;5.99e-14)|Lung NSC(12;0.000152)|all_lung(29;0.000518)|Melanoma(10;0.118)		BRCA - Breast invasive adenocarcinoma(13;5.53e-12)|Epithelial(14;7.42e-08)|all cancers(14;7.19e-07)			GCATGAACCTTGTGGGTCAGG	0.637																																						ENST00000371168.3																			0				kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	13						c.(46-48)ctT>ctG		chromosome 20 open reading frame 85							61	59	60					20																	56726068		2202	4300	6502	SO:0001819	synonymous_variant	128602							g.chr20:56726068T>G	AL354776	CCDS13465.1	20q13.32	2012-10-29			ENSG00000124237	ENSG00000124237			16216	protein-coding gene	gene with protein product	"Low in Lung Cancer 1"						Standard	NM_178456		Approved	bA196N14.1, LLC1	uc002xyv.3	Q9H1P6	OTTHUMG00000032836	ENST00000371168.3:c.48T>G	20.37:g.56726068T>G							p.L16L	NM_178456.2	NP_848551.1	Q9H1P6	CT085_HUMAN	BRCA - Breast invasive adenocarcinoma(13;5.53e-12)|Epithelial(14;7.42e-08)|all cancers(14;7.19e-07)		1	109	+	all_epithelial(3;5.99e-14)|Lung NSC(12;0.000152)|all_lung(29;0.000518)|Melanoma(10;0.118)		16						Silent	SNP	ENST00000371168.3	37	c.48T>G	CCDS13465.1																																																																																				0.637	C20orf85-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079866.2	NM_178456		7	5	0	0	0	1	0	7	5					G	56726068	T	G	56726068	2	3	226	1	0	0	0	0	0	0	0	1	2120	1799	63	5		5	C20orf85	20	56726068	Silent	SNP	T	TCGA-HC-7821-01A-12D-2114-08		56726068	6299452	41	10446											
PLXNB2	23654	broad.mit.edu	37	chr22	50716552	50716552	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatgggggcccaccttgacTgagagcagccgcgtcaggta	8	6	14	13	2	1	2	1	2	0	1	1	3	1	2	4	3	2	2	4	3	1	2			TCGA-HC-7821-01A-12D-2114-08	TCGA-HC-7821-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ec36148-fac7-4583-b63e-6e055faa5d8c	f7dc706c-fd50-4f2b-8b98-db4e3e844012	g.chr22:50716552T>C	ENST00000449103.1	-	31	5021	c.4881A>G	c.(4879-4881)tcA>tcG	p.S1627S	PLXNB2_ENST00000359337.4_Silent_p.S1627S			O15031	PLXB2_HUMAN	plexin B2	1627					brain development (GO:0007420)|neural tube closure (GO:0001843)|neuroblast proliferation (GO:0007405)|positive regulation of axonogenesis (GO:0050772)|regulation of cell shape (GO:0008360)|regulation of neuron migration (GO:2001222)|regulation of protein phosphorylation (GO:0001932)|regulation of Rho GTPase activity (GO:0032319)|semaphorin-plexin signaling pathway (GO:0071526)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)	GTPase activator activity (GO:0005096)|semaphorin receptor activity (GO:0017154)			breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	66		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		CCACCTTGACTGAGAGCAGCC	0.682																																						ENST00000449103.1																			0				breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	66						c.(4879-4881)tcA>tcG		plexin B2							29	31	30					22																	50716552		2119	4228	6347	SO:0001819	synonymous_variant	23654				regulation of small GTPase mediated signal transduction	integral to membrane|intracellular	GTPase activator activity|protein binding|receptor activity	g.chr22:50716552T>C		CCDS43035.1	22q13.33	2008-06-12			ENSG00000196576	ENSG00000196576		"Plexins"	9104	protein-coding gene	gene with protein product		604293				10520995, 12183458	Standard	NM_012401		Approved	MM1, KIAA0315, PLEXB2	uc003bkv.4	O15031	OTTHUMG00000150219	ENST00000449103.1:c.4881A>G	22.37:g.50716552T>C						PLXNB2_ENST00000359337.4_Silent_p.S1627S	p.S1627S			O15031	PLXB2_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)	31	5021	-		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)	1627					A6QRH0|Q7KZU3|Q9BSU7	Silent	SNP	ENST00000449103.1	37	c.4881A>G	CCDS43035.1	.	.	.	.	.	.	.	.	.	.	T	0.072	-1.200519	0.01581	.	.	ENSG00000196576	ENST00000399991;ENST00000399964	.	.	.	4.7	-9.4	0.00616	.	0.000000	0.64402	D	0.000002	T	0.49184	0.1542	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.65606	-0.6127	6	0.72032	D	0.01	.	2.6951	0.05132	0.3161:0.3755:0.154:0.1543	.	.	.	.	G	99;258	.	ENSP00000382845:S258G	S	-	1	0	PLXNB2	49058679	0.000000	0.05858	0.015000	0.15790	0.014000	0.08584	-3.125000	0.00593	-3.320000	0.00188	-3.839000	0.00018	AGT		0.682	PLXNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316874.3	NM_012401		4	43	0	0	0	1	0	4	43					C	50716552	T	C	50716552	2	2	226	1	0	0	0	0	0	0	0	1	12124	1567	55	4		4	PLXNB2	22	50716552	Silent	SNP	T	TCGA-HC-7821-01A-12D-2114-08		50716552	588014	42	10447											
P2RY10	27334	broad.mit.edu	37	chrX	78216116	78216116	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtcactaatgtgaaatttcaAtactccctctatgcaaccac	13	12	4	12	0	3	1	2	1	1	0	4	1	4	1	2	0	3	1	2	0	6	4			TCGA-HC-7821-01A-12D-2114-08	TCGA-HC-7821-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ec36148-fac7-4583-b63e-6e055faa5d8c	f7dc706c-fd50-4f2b-8b98-db4e3e844012	g.chrX:78216116A>T	ENST00000171757.2	+	4	379	c.99A>T	c.(97-99)caA>caT	p.Q33H	P2RY10_ENST00000544091.1_Missense_Mutation_p.Q33H|P2RY10_ENST00000475374.1_3'UTR	NM_014499.2	NP_055314.1	O00398	P2Y10_HUMAN	purinergic receptor P2Y, G-protein coupled, 10	33						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled purinergic nucleotide receptor activity (GO:0045028)			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(22)|ovary(3)|skin(2)	42						TGAAATTTCAATACTCCCTCT	0.428																																						ENST00000171757.2																			0				breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(22)|ovary(3)|skin(2)	42						c.(97-99)caA>caT		purinergic receptor P2Y, G-protein coupled, 10							182	139	154					X																	78216116		2203	4300	6503	SO:0001583	missense	0					integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	g.chrX:78216116A>T	AF000545	CCDS14442.1	Xq21.1	2012-08-23			ENSG00000078589	ENSG00000078589		"Purinergic receptors", "GPCR / Class A : Purinergic receptors, P2Y"	19906	protein-coding gene	gene with protein product		300529				11004484, 9755289	Standard	NM_014499		Approved	P2Y10	uc004edf.3	O00398	OTTHUMG00000021896	ENST00000171757.2:c.99A>T	X.37:g.78216116A>T	ENSP00000171757:p.Gln33His					P2RY10_ENST00000544091.1_Missense_Mutation_p.Q33H|P2RY10_ENST00000475374.1_3'UTR	p.Q33H	NM_014499.2	NP_055314.1	O00398	P2Y10_HUMAN			4	379	+			33					D3DTE5|Q4VBN7|Q86V16	Missense_Mutation	SNP	ENST00000171757.2	37	c.99A>T	CCDS14442.1	.	.	.	.	.	.	.	.	.	.	A	0.573	-0.840229	0.02692	.	.	ENSG00000078589	ENST00000544091;ENST00000171757	T;T	0.37584	1.19;1.19	4.97	-0.379	0.12493	.	0.295867	0.31859	N	0.006947	T	0.27169	0.0666	L	0.53249	1.67	0.22639	N	0.99891	B	0.11235	0.004	B	0.12837	0.008	T	0.17806	-1.0357	10	0.54805	T	0.06	.	4.2524	0.10702	0.219:0.1063:0.5545:0.1202	.	33	O00398	P2Y10_HUMAN	H	33	ENSP00000443138:Q33H;ENSP00000171757:Q33H	ENSP00000171757:Q33H	Q	+	3	2	P2RY10	78102772	0.000000	0.05858	0.005000	0.12908	0.006000	0.05464	-0.280000	0.08468	-0.819000	0.04323	-3.484000	0.00034	CAA		0.428	P2RY10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057323.1			8	61	0	0	0	1	0	8	61					T	78216116	A	T	78216116	3	4	226	1	0	0	0	0	1	0	0	0	11347	98	4	5	101	5	P2RY10	23	78216116	Missense_Mutation	SNP	A	TCGA-HC-7821-01A-12D-2114-08		78216116	77054444	43	10448											
FAM70A	55026	broad.mit.edu	37	chrX	119419025	119419025	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcagaagcaggtgttgccccGgatgcgaggtgtgcagaatt	9	8	16	8	2	0	2	0	0	0	2	0	4	0	3	2	3	4	4	2	3	2	2			TCGA-HC-7821-01A-12D-2114-08	TCGA-HC-7821-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ec36148-fac7-4583-b63e-6e055faa5d8c	f7dc706c-fd50-4f2b-8b98-db4e3e844012	g.chrX:119419025G>A	ENST00000309720.5	-	7	664	c.541C>T	c.(541-543)Cgg>Tgg	p.R181W	TMEM255A_ENST00000371352.1_Missense_Mutation_p.R17W|TMEM255A_ENST00000440464.1_Intron|TMEM255A_ENST00000371369.4_Missense_Mutation_p.R157W	NM_017938.3	NP_060408.3	Q5JRV8	T255A_HUMAN	transmembrane protein 255A	181						integral component of membrane (GO:0016021)											GTGTTGCCCCGGATGCGAGGT	0.527																																						ENST00000371369.4																			0											c.(469-471)Cgg>Tgg		transmembrane protein 255A							234	185	202					X																	119419025		2203	4300	6503	SO:0001583	missense	55026							g.chrX:119419025G>A	BC047054	CCDS14597.1, CCDS43986.1, CCDS48157.1	Xq24	2012-11-30	2012-11-30	2012-11-30	ENSG00000125355	ENSG00000125355			26086	protein-coding gene	gene with protein product			"family with sequence similarity 70, member A"	FAM70A		12477932	Standard	NM_017938		Approved	FLJ20716	uc004eso.4	Q5JRV8	OTTHUMG00000022298	ENST00000309720.5:c.541C>T	X.37:g.119419025G>A	ENSP00000310110:p.Arg181Trp					TMEM255A_ENST00000309720.5_Missense_Mutation_p.R181W|TMEM255A_ENST00000440464.1_Intron|TMEM255A_ENST00000371352.1_Missense_Mutation_p.R17W	p.R157W	NM_001104544.1	NP_001098014.1					6	695	-								A8K0W9|B1APR4|B3KPI6|E9PAR3|Q86Y72|Q9NWN8	Missense_Mutation	SNP	ENST00000309720.5	37	c.469C>T	CCDS14597.1	.	.	.	.	.	.	.	.	.	.	g	14.45	2.537595	0.45176	.	.	ENSG00000125355	ENST00000309720;ENST00000371369;ENST00000371352	T;T;T	0.53206	0.63;0.63;0.63	4.7	1.53	0.23141	.	0.219563	0.41194	D	0.000932	T	0.51278	0.1665	M	0.68317	2.08	0.80722	D	1	D;B	0.64830	0.994;0.268	P;B	0.49887	0.625;0.023	T	0.57225	-0.7848	10	0.56958	D	0.05	-6.8345	11.3057	0.49334	0.0:0.0:0.4109:0.5891	.	157;181	B1APR4;Q5JRV8	.;FA70A_HUMAN	W	181;157;17	ENSP00000310110:R181W;ENSP00000360420:R157W;ENSP00000360403:R17W	ENSP00000310110:R181W	R	-	1	2	FAM70A	119303053	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.534000	0.53568	0.762000	0.33152	0.380000	0.24917	CGG		0.527	TMEM255A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058091.1	NM_017938		100	52	0	0	0	1	0	100	52					A	119419025	G	A	119419025	3	1	226	1	0	0	0	0	1	0	0	0	5605	1115	39	2	524	2	FAM70A	23	119419025	Missense_Mutation	SNP	G	TCGA-HC-7821-01A-12D-2114-08	41202909	119419025	35851535	44	10449											
SDF4	51150	broad.mit.edu	37	chr1	1154157	1154157	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acccagcctcacccaggtccCggacgatctccttcaccatg	8	7	7	19	2	3	0	2	0	1	0	5	2	4	1	6	2	1	0	6	2	0	1	rs192791486	byFrequency	TCGA-HC-8213-01A-11D-A29Q-08	TCGA-HC-8213-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f375497-1993-42be-aae3-0c55638053e7	942d7fa6-03b5-4661-9806-b535058fed63	g.chr1:1154157C>T	ENST00000360001.6	-	5	990	c.728G>A	c.(727-729)cGg>cAg	p.R243Q	SDF4_ENST00000263741.7_Missense_Mutation_p.R243Q			Q9BRK5	CAB45_HUMAN	stromal cell derived factor 4	243	EF-hand 4. {ECO:0000255|PROSITE- ProRule:PRU00448}.				calcium ion-dependent exocytosis (GO:0017156)|cerebellum development (GO:0021549)|fat cell differentiation (GO:0045444)|response to ethanol (GO:0045471)|UV protection (GO:0009650)|zymogen granule exocytosis (GO:0070625)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi lumen (GO:0005796)|late endosome (GO:0005770)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	11	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;7.85e-36)|OV - Ovarian serous cystadenocarcinoma(86;1.42e-21)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;4.83e-05)|Kidney(185;0.00252)|BRCA - Breast invasive adenocarcinoma(365;0.00263)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0368)|Lung(427;0.204)		ACCCAGGTCCCGGACGATCTC	0.697													c|||	4	0.000798722	0	0	5008	,	,		15130	0.004		0	False		,,,				2504	0					ENST00000263741.7																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	11						c.(727-729)cGg>cAg		stromal cell derived factor 4							64	70	68					1																	1154157		2203	4300	6503	SO:0001583	missense	51150				cerebellum development|fat cell differentiation|response to ethanol|UV protection|zymogen granule exocytosis	bleb|Golgi lumen|late endosome|soluble fraction	calcium ion binding|identical protein binding|protein binding	g.chr1:1154157C>T		CCDS12.1, CCDS30553.1	1p36.33	2013-01-10			ENSG00000078808	ENSG00000078808		"EF-hand domain containing"	24188	protein-coding gene	gene with protein product	"calcium binding protein"	614282				9254016, 8609160	Standard	NM_016176		Approved	Cab45	uc001adh.4	Q9BRK5	OTTHUMG00000001812	ENST00000360001.6:c.728G>A	1.37:g.1154157C>T	ENSP00000353094:p.Arg243Gln					SDF4_ENST00000360001.6_Missense_Mutation_p.R243Q	p.R243Q	NM_016176.3|NM_016547.2	NP_057260.2|NP_057631.1	Q9BRK5	CAB45_HUMAN		Epithelial(90;7.85e-36)|OV - Ovarian serous cystadenocarcinoma(86;1.42e-21)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;4.83e-05)|Kidney(185;0.00252)|BRCA - Breast invasive adenocarcinoma(365;0.00263)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0368)|Lung(427;0.204)	5	1020	-	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)	243			EF-hand 4.		B1AME5|B1AME6|B2RDF1|B4DSM1|Q53G52|Q53HQ9|Q8NBQ3|Q96AA1|Q9NZP7|Q9UN53	Missense_Mutation	SNP	ENST00000360001.6	37	c.728G>A	CCDS30553.1	4	0.0018315018315018315	0	0.0	0	0.0	4	0.006993006993006993	0	0.0	C	17.33	3.361760	0.61403	.	.	ENSG00000078808	ENST00000360001;ENST00000263741	T;T	0.20069	2.1;2.1	4.55	4.55	0.56014	EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	T	0.34106	0.0886	M	0.61703	1.905	0.80722	D	1	D;D	0.89917	1.0;0.997	D;P	0.68039	0.955;0.787	T	0.19095	-1.0316	10	0.45353	T	0.12	-28.832	16.2798	0.82670	0.0:1.0:0.0:0.0	.	243;243	Q9BRK5-6;Q9BRK5	.;CAB45_HUMAN	Q	243	ENSP00000353094:R243Q;ENSP00000263741:R243Q	ENSP00000263741:R243Q	R	-	2	0	SDF4	1144020	1.000000	0.71417	0.947000	0.38551	0.829000	0.46940	5.803000	0.69129	2.058000	0.61347	0.305000	0.20034	CGG		0.697	SDF4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000005064.1	NM_016176		6	192	0	0	0	1	0	6	192					T	1154157	C	T	1154157	3	4	227	1	0	0	0	0	1	0	0	0	13962	652	23	2	488	2	SDF4	1	1154157	Missense_Mutation	SNP	C	TCGA-HC-8213-01A-11D-A29Q-08		1154157	248096464	1	10450											
KCNA3	3738	broad.mit.edu	37	chr1	111216759	111216759	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cccggagctctcggggtactCgaagagcagccacacctggc	8	5	13	15	3	1	1	0	0	1	1	3	3	1	2	3	4	4	3	3	4	2	1			TCGA-HC-8213-01A-11D-A29Q-08	TCGA-HC-8213-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f375497-1993-42be-aae3-0c55638053e7	942d7fa6-03b5-4661-9806-b535058fed63	g.chr1:111216759C>T	ENST00000369769.2	-	1	896	c.673G>A	c.(673-675)Gag>Aag	p.E225K		NM_002232.3	NP_002223.3	P22001	KCNA3_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 3	225					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	membrane raft (GO:0045121)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|outward rectifier potassium channel activity (GO:0015271)|voltage-gated ion channel activity (GO:0005244)			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(7)|ovary(4)|pancreas(1)|prostate(3)|skin(1)	38		all_cancers(81;3.92e-06)|all_epithelial(167;1.28e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Lung(183;0.0235)|Colorectal(144;0.0306)|all cancers(265;0.0752)|Epithelial(280;0.0821)|COAD - Colon adenocarcinoma(174;0.132)|LUSC - Lung squamous cell carcinoma(189;0.133)	Dalfampridine(DB06637)	TCGGGGTACTCGAAGAGCAGC	0.677																																						ENST00000369769.2																			0				endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(7)|ovary(4)|pancreas(1)|prostate(3)|skin(1)	38						c.(673-675)Gag>Aag		potassium voltage-gated channel, shaker-related subfamily, member 3							31	39	37					1																	111216759		2202	4296	6498	SO:0001583	missense	3738					voltage-gated potassium channel complex	delayed rectifier potassium channel activity	g.chr1:111216759C>T	L23499	CCDS828.2	1p13.3	2012-07-05			ENSG00000177272	ENSG00000177272		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6221	protein-coding gene	gene with protein product		176263				2251283, 16382104	Standard	NM_002232		Approved	Kv1.3, MK3, HLK3, HPCN3	uc001dzv.1	P22001	OTTHUMG00000034493	ENST00000369769.2:c.673G>A	1.37:g.111216759C>T	ENSP00000358784:p.Glu225Lys						p.E225K	NM_002232.3	NP_002223.3	P22001	KCNA3_HUMAN		Lung(183;0.0235)|Colorectal(144;0.0306)|all cancers(265;0.0752)|Epithelial(280;0.0821)|COAD - Colon adenocarcinoma(174;0.132)|LUSC - Lung squamous cell carcinoma(189;0.133)	1	896	-		all_cancers(81;3.92e-06)|all_epithelial(167;1.28e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)	225					Q5VWN2	Missense_Mutation	SNP	ENST00000369769.2	37	c.673G>A	CCDS828.2	.	.	.	.	.	.	.	.	.	.	C	26.4	4.737440	0.89482	.	.	ENSG00000177272	ENST00000369769	T	0.67865	-0.29	4.8	4.8	0.61643	.	0.000000	0.85682	U	0.000000	D	0.83101	0.5181	M	0.89715	3.055	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.87341	0.2331	10	0.87932	D	0	.	17.82	0.88648	0.0:1.0:0.0:0.0	.	225	P22001	KCNA3_HUMAN	K	225	ENSP00000358784:E225K	ENSP00000358784:E225K	E	-	1	0	KCNA3	111018282	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.704000	0.84595	2.209000	0.71365	0.561000	0.74099	GAG		0.677	KCNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083391.1	NM_002232		44	98	0	0	0	1	0	44	98					T	111216759	C	T	111216759	3	4	227	1	0	0	0	0	1	0	0	0	8004	893	31	2	1058	2	KCNA3	1	111216759	Missense_Mutation	SNP	C	TCGA-HC-8213-01A-11D-A29Q-08	110062602	111216759	138033862	2	10451											
CGN	57530	broad.mit.edu	37	chr1	151509267	151509267	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agcagaagaggaaattgagcGactggacggcctgaggaaga	15	4	16	6	2	0	5	0	2	0	3	0	9	0	8	1	4	2	1	1	4	3	1	rs555924887		TCGA-HC-8213-01A-11D-A29Q-08	TCGA-HC-8213-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f375497-1993-42be-aae3-0c55638053e7	942d7fa6-03b5-4661-9806-b535058fed63	g.chr1:151509267G>A	ENST00000271636.7	+	20	3501	c.3368G>A	c.(3367-3369)cGa>cAa	p.R1123Q		NM_020770.2	NP_065821.1	Q9P2M7	CING_HUMAN	cingulin	1117					transforming growth factor beta receptor signaling pathway (GO:0007179)	cell junction (GO:0030054)|myosin complex (GO:0016459)|tight junction (GO:0005923)	actin binding (GO:0003779)|motor activity (GO:0003774)			NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	45	Ovarian(49;0.0273)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		LUSC - Lung squamous cell carcinoma(543;0.181)			GAAATTGAGCGACTGGACGGC	0.552													G|||	1	0.000199681	0	0	5008	,	,		18627	0.001		0	False		,,,				2504	0					ENST00000271636.7																			0				NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	45						c.(3367-3369)cGa>cAa		cingulin							146	144	145					1																	151509267		2203	4300	6503	SO:0001583	missense	57530					myosin complex|tight junction	actin binding|motor activity	g.chr1:151509267G>A	AB037740	CCDS999.1	1q21	2008-02-05			ENSG00000143375	ENSG00000143375			17429	protein-coding gene	gene with protein product		609473				11042084, 12529927	Standard	NM_020770		Approved	KIAA1319	uc009wmw.3	Q9P2M7	OTTHUMG00000012497	ENST00000271636.7:c.3368G>A	1.37:g.151509267G>A	ENSP00000271636:p.Arg1123Gln						p.R1123Q	NM_020770.2	NP_065821.1	Q9P2M7	CING_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.181)		20	3501	+	Ovarian(49;0.0273)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		1117					A6H8L3|A7MD22|Q5T386|Q9NR25	Missense_Mutation	SNP	ENST00000271636.7	37	c.3368G>A	CCDS999.1	.	.	.	.	.	.	.	.	.	.	G	36	5.704506	0.96812	.	.	ENSG00000143375	ENST00000271636	T	0.77358	-1.09	5.41	5.41	0.78517	Myosin tail (1);	0.054132	0.64402	N	0.000001	D	0.85583	0.5730	M	0.71581	2.175	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	D	0.86078	0.1542	10	0.56958	D	0.05	-10.0739	17.7652	0.88475	0.0:0.0:1.0:0.0	.	1117	Q9P2M7	CING_HUMAN	Q	1123	ENSP00000271636:R1123Q	ENSP00000271636:R1123Q	R	+	2	0	CGN	149775891	1.000000	0.71417	0.998000	0.56505	0.995000	0.86356	9.654000	0.98509	2.541000	0.85698	0.655000	0.94253	CGA		0.552	CGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034900.3	NM_020770		40	47	0	0	0	1	0	40	47					A	151509267	G	A	151509267	3	1	227	1	0	0	0	0	1	0	0	0	3303	1058	37	2	3442	2	CGN	1	151509267	Missense_Mutation	SNP	G	TCGA-HC-8213-01A-11D-A29Q-08	40292508	151509267	97741354	3	10452											
CACNA1E	777	broad.mit.edu	37	chr1	181745355	181745355	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cgtctgggcagaatatgaccGagcagcatggtgcgtaggcc	9	7	15	10	3	1	2	0	1	1	1	1	3	1	2	2	3	3	4	2	3	3	2	rs371470806		TCGA-HC-8213-01A-11D-A29Q-08	TCGA-HC-8213-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f375497-1993-42be-aae3-0c55638053e7	942d7fa6-03b5-4661-9806-b535058fed63	g.chr1:181745355G>A	ENST00000367573.2	+	38	5258	c.5258G>A	c.(5257-5259)cGa>cAa	p.R1753Q	CACNA1E_ENST00000357570.5_Missense_Mutation_p.R1704Q|CACNA1E_ENST00000367570.1_Missense_Mutation_p.R1753Q|CACNA1E_ENST00000526775.1_Missense_Mutation_p.R1734Q|CACNA1E_ENST00000358338.5_Missense_Mutation_p.R1685Q|CACNA1E_ENST00000360108.3_Missense_Mutation_p.R1734Q|CACNA1E_ENST00000367567.4_Missense_Mutation_p.R1360Q	NM_001205293.1	NP_001192222.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	1753	EF-hand. {ECO:0000255|PROSITE- ProRule:PRU00448}.				calcium ion import (GO:0070509)|energy reserve metabolic process (GO:0006112)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|voltage-gated calcium channel activity (GO:0005245)			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						GAATATGACCGAGCAGCATGG	0.612																																						ENST00000526775.1																			0				NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						c.(5200-5202)cGa>cAa		calcium channel, voltage-dependent, R type, alpha 1E subunit		G	GLN/ARG,GLN/ARG,GLN/ARG	0,3900		0,0,1950	101	102	102		5258,5258,5201	5.3	1	1		102	1,8271		0,1,4135	no	missense,missense,missense	CACNA1E	NM_000721.3,NM_001205293.1,NM_001205294.1	43,43,43	0,1,6085	AA,AG,GG		0.0121,0.0,0.0082	probably-damaging,probably-damaging,probably-damaging	1753/2271,1753/2314,1734/2252	181745355	1,12171	1950	4136	6086	SO:0001583	missense	777				energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr1:181745355G>A	AK096563	CCDS53443.1, CCDS55664.1, CCDS55665.1	1q25.3	2013-01-10	2007-02-16		ENSG00000198216	ENSG00000198216		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels", "EF-hand domain containing"	1392	protein-coding gene	gene with protein product		601013		CACNL1A6		8388125, 16382099	Standard	NM_001205293		Approved	Cav2.3, BII, CACH6	uc009wxt.3	Q15878	OTTHUMG00000037301	ENST00000367573.2:c.5258G>A	1.37:g.181745355G>A	ENSP00000356545:p.Arg1753Gln					CACNA1E_ENST00000367567.4_Missense_Mutation_p.R1360Q|CACNA1E_ENST00000357570.5_Missense_Mutation_p.R1704Q|CACNA1E_ENST00000360108.3_Missense_Mutation_p.R1734Q|CACNA1E_ENST00000358338.5_Missense_Mutation_p.R1685Q|CACNA1E_ENST00000367573.2_Missense_Mutation_p.R1753Q|CACNA1E_ENST00000367570.1_Missense_Mutation_p.R1753Q	p.R1734Q	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN			37	5366	+			1753					B1AM12|B1AM13|B1AM14|Q14580|Q14581	Missense_Mutation	SNP	ENST00000367573.2	37	c.5201G>A	CCDS55664.1	.	.	.	.	.	.	.	.	.	.	G	34	5.386960	0.95988	0.0	1.21E-4	ENSG00000198216	ENST00000367570;ENST00000526775;ENST00000357570;ENST00000358338;ENST00000367567;ENST00000360108;ENST00000367573	D;D;D;D;D;D;D	0.96104	-3.84;-3.84;-3.85;-3.84;-3.91;-3.85;-3.85	5.28	5.28	0.74379	.	0.000000	0.85682	D	0.000000	D	0.95850	0.8649	L	0.34521	1.04	0.58432	D	0.999994	D;D;D	0.76494	0.99;0.992;0.999	P;P;P	0.61874	0.877;0.881;0.895	D	0.96583	0.9432	10	0.72032	D	0.01	.	18.5437	0.91039	0.0:0.0:1.0:0.0	.	1734;1753;1753	Q15878-2;Q15878;Q15878-3	.;CAC1E_HUMAN;.	Q	1753;1734;1704;1685;1360;1734;1753	ENSP00000356542:R1753Q;ENSP00000434814:R1734Q;ENSP00000350183:R1704Q;ENSP00000351101:R1685Q;ENSP00000356539:R1360Q;ENSP00000353222:R1734Q;ENSP00000356545:R1753Q	ENSP00000350183:R1704Q	R	+	2	0	CACNA1E	180011978	1.000000	0.71417	0.999000	0.59377	0.945000	0.59286	6.509000	0.73725	2.479000	0.83701	0.655000	0.94253	CGA		0.612	CACNA1E-003	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090793.2	NM_000721		79	104	0	0	0	1	0	79	104					A	181745355	G	A	181745355	3	1	227	1	0	0	0	0	1	0	0	0	2542	1058	37	2	5408	2	CACNA1E	1	181745355	Missense_Mutation	SNP	G	TCGA-HC-8213-01A-11D-A29Q-08	30236088	181745355	67505266	4	10453											
CFH	3075	broad.mit.edu	37	chr1	196711060	196711060	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gccatacccatgggagagaaGaaggatgtgtataaggcggg	13	6	16	6	1	0	2	0	0	0	2	0	5	0	4	2	4	1	1	2	4	5	3			TCGA-HC-8213-01A-11D-A29Q-08	TCGA-HC-8213-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f375497-1993-42be-aae3-0c55638053e7	942d7fa6-03b5-4661-9806-b535058fed63	g.chr1:196711060G>A	ENST00000367429.4	+	19	3252	c.3012G>A	c.(3010-3012)aaG>aaA	p.K1004K		NM_000186.3	NP_000177.2	P08603	CFAH_HUMAN	complement factor H	1004	Sushi 17. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	heparan sulfate proteoglycan binding (GO:0043395)|heparin binding (GO:0008201)			NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						TGGGAGAGAAGAAGGATGTGT	0.368																																						ENST00000367429.4																			0				NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						c.(3010-3012)aaG>aaA		complement factor H							119	111	113					1																	196711060		2203	4300	6503	SO:0001819	synonymous_variant	3075				complement activation, alternative pathway	extracellular space		g.chr1:196711060G>A	Y00716	CCDS1385.1	1q32	2014-09-17	2004-08-09	2004-08-12	ENSG00000000971	ENSG00000000971		"Complement system"	4883	protein-coding gene	gene with protein product	"beta-1H", "H factor 2 (complement)", "age-related maculopathy susceptibility 1"	134370	"H factor 1 (complement)"	HF, HF1, HF2		2889480, 2963625	Standard	NM_000186		Approved	HUS, FHL1, ARMS1, ARMD4	uc001gtj.4	P08603	OTTHUMG00000035607	ENST00000367429.4:c.3012G>A	1.37:g.196711060G>A							p.K1004K	NM_000186.3	NP_000177.2	P08603	CFAH_HUMAN			19	3252	+			1004			Sushi 17.		A5PL14|P78435|Q14570|Q2TAZ5|Q38G77|Q5TFM3|Q8N708|Q9NU86	Silent	SNP	ENST00000367429.4	37	c.3012G>A	CCDS1385.1																																																																																				0.368	CFH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086412.2	NM_000186		5	90	0	0	0	1	0	5	90					A	196711060	G	A	196711060	2	1	227	1	0	0	0	0	0	0	0	1	3283	933	33	3		3	CFH	1	196711060	Silent	SNP	G	TCGA-HC-8213-01A-11D-A29Q-08	14965705	196711060	52539561	5	10454											
TMEM177	80775	broad.mit.edu	37	chr2	120438904	120438904	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tcgccttggccagggaagtgGtgtacctggaaagcagtacc	9	8	14	10	1	0	0	0	0	0	0	1	2	0	2	4	4	3	3	4	4	4	3			TCGA-HC-8213-01A-11D-A29Q-08	TCGA-HC-8213-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f375497-1993-42be-aae3-0c55638053e7	942d7fa6-03b5-4661-9806-b535058fed63	g.chr2:120438904G>A	ENST00000424086.1	+	2	948	c.475G>A	c.(475-477)Gtg>Atg	p.V159M	TMEM177_ENST00000401466.1_Missense_Mutation_p.V159M|TMEM177_ENST00000272521.6_Missense_Mutation_p.V159M|TMEM177_ENST00000496203.1_Intron|TMEM177_ENST00000409951.1_Intron	NM_001105198.1	NP_001098668.1	Q53S58	TM177_HUMAN	transmembrane protein 177	159						integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	13	Colorectal(110;0.196)					CAGGGAAGTGGTGTACCTGGA	0.662																																						ENST00000424086.1																			0				breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	13						c.(475-477)Gtg>Atg		transmembrane protein 177							69	77	75					2																	120438904		2203	4300	6503	SO:0001583	missense	80775					integral to membrane		g.chr2:120438904G>A	BC004404	CCDS2128.1	2q14.2	2008-02-05			ENSG00000144120	ENSG00000144120			28143	protein-coding gene	gene with protein product						12477932	Standard	NM_001105198		Approved	MGC10993	uc002tmc.1	Q53S58	OTTHUMG00000153312	ENST00000424086.1:c.475G>A	2.37:g.120438904G>A	ENSP00000402661:p.Val159Met					TMEM177_ENST00000272521.6_Missense_Mutation_p.V159M|TMEM177_ENST00000401466.1_Missense_Mutation_p.V159M|TMEM177_ENST00000409951.1_Intron|TMEM177_ENST00000496203.1_Intron	p.V159M	NM_001105198.1	NP_001098668.1	Q53S58	TM177_HUMAN			2	948	+	Colorectal(110;0.196)		159					Q9BT20	Missense_Mutation	SNP	ENST00000424086.1	37	c.475G>A	CCDS2128.1	.	.	.	.	.	.	.	.	.	.	G	9.706	1.155754	0.21454	.	.	ENSG00000144120	ENST00000401466;ENST00000424086;ENST00000272521;ENST00000415646	T;T;T	0.46819	0.86;0.86;0.86	4.36	0.215	0.15253	.	0.187736	0.46145	N	0.000320	T	0.33294	0.0858	L	0.43701	1.375	0.39946	D	0.974473	B	0.18166	0.026	B	0.21708	0.036	T	0.07712	-1.0758	10	0.35671	T	0.21	-1.0467	5.4991	0.16819	0.2784:0.1489:0.5727:0.0	.	159	Q53S58	TM177_HUMAN	M	159	ENSP00000385966:V159M;ENSP00000402661:V159M;ENSP00000272521:V159M	ENSP00000272521:V159M	V	+	1	0	TMEM177	120155374	0.984000	0.35163	0.898000	0.35279	0.836000	0.47400	0.462000	0.21956	0.218000	0.20820	-0.480000	0.04831	GTG		0.662	TMEM177-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330673.1	NM_030577		8	166	0	0	0	1	0	8	166					A	120438904	G	A	120438904	3	1	227	1	0	0	0	0	1	0	0	0	16091	1261	44	3	477	3	TMEM177	2	120438904	Missense_Mutation	SNP	G	TCGA-HC-8213-01A-11D-A29Q-08		120438904	122760469	6	10455											
CADPS	8618	broad.mit.edu	37	chr3	62535600	62535600	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aattgagagataggggcatcCagctgaggtacatttcctcc	11	10	11	9	0	0	3	0	2	0	1	3	4	3	3	3	3	2	3	3	3	3	4			TCGA-HC-8213-01A-11D-A29Q-08	TCGA-HC-8213-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f375497-1993-42be-aae3-0c55638053e7	942d7fa6-03b5-4661-9806-b535058fed63	g.chr3:62535600C>G	ENST00000383710.4	-	11	2293	c.1944G>C	c.(1942-1944)ctG>ctC	p.L648L	CADPS_ENST00000357948.3_Silent_p.L648L|CADPS_ENST00000283269.9_Silent_p.L648L	NM_003716.3	NP_003707.2	Q9ULU8	CAPS1_HUMAN	Ca++-dependent secretion activator	648					catecholamine secretion (GO:0050432)|exocytosis (GO:0006887)|protein transport (GO:0015031)|synaptic vesicle priming (GO:0016082)|vesicle organization (GO:0016050)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|membrane (GO:0016020)|synapse (GO:0045202)	lipid binding (GO:0008289)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)			breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2)	92		Lung SC(41;0.0452)		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)		TAGGGGCATCCAGCTGAGGTA	0.473																																						ENST00000383710.4																			0				breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2)	92						c.(1942-1944)ctG>ctC		Ca++-dependent secretion activator							101	94	97					3																	62535600		2203	4300	6503	SO:0001819	synonymous_variant	8618				exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|cytosol|synapse	lipid binding|metal ion binding	g.chr3:62535600C>G	U36448	CCDS2898.1, CCDS2899.1, CCDS46858.1	3p21.1	2013-01-10	2008-08-28		ENSG00000163618	ENSG00000163618		"Pleckstrin homology (PH) domain containing"	1426	protein-coding gene	gene with protein product		604667				1516133	Standard	NM_183393		Approved	CAPS, KIAA1121, CAPS1	uc003dll.2	Q9ULU8	OTTHUMG00000158651	ENST00000383710.4:c.1944G>C	3.37:g.62535600C>G						CADPS_ENST00000357948.3_Silent_p.L648L|CADPS_ENST00000283269.9_Silent_p.L648L	p.L648L	NM_003716.3	NP_003707.2	Q9ULU8	CAPS1_HUMAN		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)	11	2293	-		Lung SC(41;0.0452)	648					A6NF60|Q13339|Q6GQQ6|Q8N2Z5|Q8N3M7|Q8NFR0|Q96BC2	Silent	SNP	ENST00000383710.4	37	c.1944G>C	CCDS46858.1	.	.	.	.	.	.	.	.	.	.	C	6.469	0.454625	0.12283	.	.	ENSG00000163618	ENST00000478434	.	.	.	4.71	2.91	0.33838	.	.	.	.	.	T	0.55386	0.1917	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.51244	-0.8730	4	.	.	.	.	6.9963	0.24784	0.0:0.7079:0.0:0.2921	.	.	.	.	S	79	.	.	W	-	2	0	CADPS	62510640	0.999000	0.42202	1.000000	0.80357	0.913000	0.54294	0.647000	0.24812	1.354000	0.45846	-0.237000	0.12165	TGG		0.473	CADPS-013	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351951.5	NM_003716, NM_183393, NM_183394		40	70	0	0	0	1	0	40	70					G	62535600	C	G	62535600	2	3	227	1	0	0	0	0	0	0	0	1	2570	581	21	5		5	CADPS	3	62535600	Silent	SNP	C	TCGA-HC-8213-01A-11D-A29Q-08		62535600	135486830	7	10456											
EPHA3	2042	broad.mit.edu	37	chr3	89528621	89528621	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tagcattaaagctctagaaaCgcaatcaaagaatggcccag	17	7	8	9	1	2	2	1	0	1	2	2	2	2	2	1	1	3	3	1	1	8	3			TCGA-HC-8213-01A-11D-A29Q-08	TCGA-HC-8213-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f375497-1993-42be-aae3-0c55638053e7	942d7fa6-03b5-4661-9806-b535058fed63	g.chr3:89528621C>T	ENST00000336596.2	+	17	3146	c.2921C>T	c.(2920-2922)aCg>aTg	p.T974M	EPHA3_ENST00000494014.1_3'UTR	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN	EPH receptor A3	974	SAM. {ECO:0000255|PROSITE- ProRule:PRU00184}.				cell adhesion (GO:0007155)|cell migration (GO:0016477)|cellular response to retinoic acid (GO:0071300)|ephrin receptor signaling pathway (GO:0048013)|fasciculation of motor neuron axon (GO:0097156)|fasciculation of sensory neuron axon (GO:0097155)|positive regulation of neuron projection development (GO:0010976)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of epithelial to mesenchymal transition (GO:0010717)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule cytoskeleton organization (GO:0070507)|regulation of Rho GTPase activity (GO:0032319)	early endosome (GO:0005769)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|GPI-linked ephrin receptor activity (GO:0005004)			NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		GCTCTAGAAACGCAATCAAAG	0.468										TSP Lung(6;0.00050)																												ENST00000336596.2																			0				NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139						c.(2920-2922)aCg>aTg		EPH receptor A3							94	82	86					3																	89528621		2203	4300	6503	SO:0001583	missense	2042					extracellular region|integral to plasma membrane	ATP binding	g.chr3:89528621C>T	M83941	CCDS2922.1, CCDS46875.1	3p11.2	2013-02-11	2004-10-28		ENSG00000044524	ENSG00000044524	2.7.10.1	"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3387	protein-coding gene	gene with protein product		179611	"EphA3"	ETK, ETK1, TYRO4		1737782, 1311845	Standard	NM_005233		Approved	HEK, HEK4	uc003dqy.3	P29320	OTTHUMG00000159040	ENST00000336596.2:c.2921C>T	3.37:g.89528621C>T	ENSP00000337451:p.Thr974Met	TSP Lung(6;0.00050)				EPHA3_ENST00000494014.1_3'UTR	p.T974M	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)	17	3146	+	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)	974			SAM.		Q9H2V3|Q9H2V4	Missense_Mutation	SNP	ENST00000336596.2	37	c.2921C>T	CCDS2922.1	.	.	.	.	.	.	.	.	.	.	C	14.92	2.678678	0.47886	.	.	ENSG00000044524	ENST00000336596	T	0.06768	3.26	5.72	5.72	0.89469	Sterile alpha motif domain (2);Sterile alpha motif/pointed domain (2);	0.049227	0.85682	D	0.000000	T	0.08846	0.0219	L	0.42245	1.32	0.80722	D	1	B	0.23735	0.09	B	0.14023	0.01	T	0.20706	-1.0267	9	.	.	.	.	14.4171	0.67158	0.0:0.9296:0.0:0.0704	.	974	P29320	EPHA3_HUMAN	M	974	ENSP00000337451:T974M	.	T	+	2	0	EPHA3	89611311	1.000000	0.71417	1.000000	0.80357	0.850000	0.48378	4.626000	0.61269	2.857000	0.98124	0.650000	0.86243	ACG		0.468	EPHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352995.1	NM_005233		7	30	0	0	0	1	0	7	30					T	89528621	C	T	89528621	3	4	227	1	0	0	0	0	1	0	0	0	5168	536	19	1	3013	1	EPHA3	3	89528621	Missense_Mutation	SNP	C	TCGA-HC-8213-01A-11D-A29Q-08	26993021	89528621	108493809	8	10457											
SORCS2	57537	broad.mit.edu	37	chr4	7725571	7725571	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ccgtcagggcagagaacacgGcaggccacgatgaggcggtg	10	3	17	11	4	1	2	1	1	0	1	1	4	1	2	2	5	1	2	2	5	1	0			TCGA-HC-8213-01A-11D-A29Q-08	TCGA-HC-8213-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f375497-1993-42be-aae3-0c55638053e7	942d7fa6-03b5-4661-9806-b535058fed63	g.chr4:7725571G>A	ENST00000507866.2	+	19	2681	c.2572G>A	c.(2572-2574)Gca>Aca	p.A858T	SORCS2_ENST00000329016.9_Missense_Mutation_p.A686T	NM_020777.2	NP_065828.2	Q96PQ0	SORC2_HUMAN	sortilin-related VPS10 domain containing receptor 2	858	PKD. {ECO:0000255|PROSITE- ProRule:PRU00151}.				neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	neuropeptide receptor activity (GO:0008188)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(8)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	42						AGAGAACACGGCAGGCCACGA	0.582																																						ENST00000507866.2																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(8)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	42						c.(2572-2574)Gca>Aca		sortilin-related VPS10 domain containing receptor 2							56	58	57					4																	7725571		2037	4184	6221	SO:0001583	missense	57537					integral to membrane	neuropeptide receptor activity	g.chr4:7725571G>A	AB037750	CCDS47008.1	4p16.1	2008-02-05			ENSG00000184985	ENSG00000184985			16698	protein-coding gene	gene with protein product		606284				11499680	Standard	NM_020777		Approved	KIAA1329	uc003gkb.4	Q96PQ0	OTTHUMG00000159981	ENST00000507866.2:c.2572G>A	4.37:g.7725571G>A	ENSP00000422185:p.Ala858Thr					SORCS2_ENST00000329016.9_Missense_Mutation_p.A686T	p.A858T	NM_020777.2	NP_065828.2	Q96PQ0	SORC2_HUMAN			19	2681	+			858			PKD.		Q9P2L7	Missense_Mutation	SNP	ENST00000507866.2	37	c.2572G>A	CCDS47008.1	.	.	.	.	.	.	.	.	.	.	G	9.853	1.194170	0.22037	.	.	ENSG00000184985	ENST00000507866;ENST00000329016	T;T	0.62788	-0.0;-0.0	2.82	1.95	0.26073	PKD/Chitinase domain (1);PKD domain (4);	0.077820	0.50627	U	0.000112	T	0.53722	0.1814	L	0.57536	1.79	0.35617	D	0.809084	B;P	0.37423	0.08;0.594	B;B	0.33690	0.068;0.168	T	0.62393	-0.6864	10	0.59425	D	0.04	.	10.652	0.45653	0.0:0.0:0.8064:0.1936	.	686;858	B5MED8;Q96PQ0	.;SORC2_HUMAN	T	858;686	ENSP00000422185:A858T;ENSP00000329124:A686T	ENSP00000329124:A686T	A	+	1	0	SORCS2	7776471	1.000000	0.71417	0.009000	0.14445	0.001000	0.01503	6.945000	0.75947	0.364000	0.24374	0.467000	0.42956	GCA		0.582	SORCS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358685.4	NM_020777		33	60	0	0	0	1	0	33	60					A	7725571	G	A	7725571	3	1	227	1	0	0	0	0	1	0	0	0	14931	1203	42	3	2646	3	SORCS2	4	7725571	Missense_Mutation	SNP	G	TCGA-HC-8213-01A-11D-A29Q-08		7725571	183428705	9	10458											
CDH12	1010	broad.mit.edu	37	chr5	21854872	21854872	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggtcgggtcatctgcatctGtggccttgacctggagtaca	7	11	13	10	1	3	1	1	1	2	0	4	2	3	2	2	4	2	2	2	4	1	2			TCGA-HC-8213-01A-11D-A29Q-08	TCGA-HC-8213-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f375497-1993-42be-aae3-0c55638053e7	942d7fa6-03b5-4661-9806-b535058fed63	g.chr5:21854872G>C	ENST00000382254.1	-	7	1640	c.554C>G	c.(553-555)aCa>aGa	p.T185R	CDH12_ENST00000521384.1_5'UTR|CDH12_ENST00000522262.1_Intron|CDH12_ENST00000504376.2_Missense_Mutation_p.T185R	NM_004061.3	NP_004052.2	P55289	CAD12_HUMAN	cadherin 12, type 2 (N-cadherin 2)	185	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						ATCTGCATCTGTGGCCTTGAC	0.413										HNSCC(59;0.17)																												ENST00000382254.1																			0				NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						c.(553-555)aCa>aGa		cadherin 12, type 2 (N-cadherin 2)							113	105	108					5																	21854872		2203	4299	6502	SO:0001583	missense	1010				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:21854872G>C	L33477	CCDS3890.1	5p14.3	2010-01-26			ENSG00000154162	ENSG00000154162		"Cadherins / Major cadherins"	1751	protein-coding gene	gene with protein product		600562				7731968	Standard	NM_004061		Approved	Br-cadherin, CDHB	uc003jgk.2	P55289	OTTHUMG00000090591	ENST00000382254.1:c.554C>G	5.37:g.21854872G>C	ENSP00000371689:p.Thr185Arg	HNSCC(59;0.17)				CDH12_ENST00000521384.1_5'UTR|CDH12_ENST00000504376.2_Missense_Mutation_p.T185R|CDH12_ENST00000522262.1_Intron	p.T185R	NM_004061.3	NP_004052.2	P55289	CAD12_HUMAN			7	1640	-			185			Cadherin 2.		B2RBT1|B7Z2U6|Q86UD2	Missense_Mutation	SNP	ENST00000382254.1	37	c.554C>G	CCDS3890.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.383877	0.82792	.	.	ENSG00000154162	ENST00000504376;ENST00000382254	T;T	0.55930	0.49;0.49	5.4	4.51	0.55191	Cadherin (5);Cadherin-like (1);	0.046898	0.85682	D	0.000000	T	0.65502	0.2697	M	0.71920	2.185	0.80722	D	1	P	0.40211	0.707	P	0.52514	0.701	T	0.69045	-0.5249	10	0.87932	D	0	.	13.8793	0.63674	0.0736:0.0:0.9264:0.0	.	185	P55289	CAD12_HUMAN	R	185	ENSP00000423577:T185R;ENSP00000371689:T185R	ENSP00000371689:T185R	T	-	2	0	CDH12	21890629	1.000000	0.71417	0.964000	0.40570	0.982000	0.71751	7.905000	0.87416	2.684000	0.91462	0.650000	0.86243	ACA		0.413	CDH12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207139.1	NM_004061		21	26	0	0	0	1	0	21	26					C	21854872	G	C	21854872	3	2	227	1	0	0	0	0	1	0	0	0	3098	1377	48	5	1866	5	CDH12	5	21854872	Missense_Mutation	SNP	G	TCGA-HC-8213-01A-11D-A29Q-08		21854872	159060388	10	10459											
SYNJ2	8871	broad.mit.edu	37	chr6	158514069	158514069	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaccccacaggcgcccccacTccttccccgtcggcccccac	5	4	7	25	3	0	0	0	0	0	0	3	1	2	0	9	2	0	0	9	2	0	1			TCGA-HC-8213-01A-11D-A29Q-08	TCGA-HC-8213-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f375497-1993-42be-aae3-0c55638053e7	942d7fa6-03b5-4661-9806-b535058fed63	g.chr6:158514069T>A	ENST00000355585.4	+	26	3752	c.3677T>A	c.(3676-3678)cTc>cAc	p.L1226H	SYNJ2_ENST00000367121.3_Missense_Mutation_p.L1226H|SYNJ2_ENST00000367112.1_Missense_Mutation_p.L311H|SYNJ2_ENST00000367122.2_Missense_Mutation_p.L1181H	NM_001178088.1|NM_003898.3	NP_001171559.1|NP_003889.1	O15056	SYNJ2_HUMAN	synaptojanin 2	1226	Pro-rich.				phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|membrane (GO:0016020)	nucleotide binding (GO:0000166)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)|RNA binding (GO:0003723)			biliary_tract(1)|endometrium(9)|kidney(3)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05)		GCGCCCCCACTCCTTCCCCGT	0.592																																						ENST00000355585.4																			0				biliary_tract(1)|endometrium(9)|kidney(3)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						c.(3676-3678)cTc>cAc		synaptojanin 2							47	53	51					6																	158514069		2203	4300	6503	SO:0001583	missense	8871						nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding	g.chr6:158514069T>A	AB002346	CCDS5254.1	6q25.3	2008-05-15			ENSG00000078269	ENSG00000078269			11504	protein-coding gene	gene with protein product		609410					Standard	NM_003898		Approved	INPP5H	uc003qqx.2	O15056	OTTHUMG00000015904	ENST00000355585.4:c.3677T>A	6.37:g.158514069T>A	ENSP00000347792:p.Leu1226His					SYNJ2_ENST00000367112.1_Missense_Mutation_p.L311H|SYNJ2_ENST00000367121.3_Missense_Mutation_p.L1226H|SYNJ2_ENST00000367122.2_Missense_Mutation_p.L1181H	p.L1226H	NM_001178088.1|NM_003898.3	NP_001171559.1|NP_003889.1	O15056	SYNJ2_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05)	26	3752	+			1226			Pro-rich.		Q5TA13|Q5TA16|Q5TA19|Q86XK0|Q8IZA8|Q9H226	Missense_Mutation	SNP	ENST00000355585.4	37	c.3677T>A	CCDS5254.1	.	.	.	.	.	.	.	.	.	.	T	16.83	3.232146	0.58777	.	.	ENSG00000078269	ENST00000367122;ENST00000367121;ENST00000355585;ENST00000367112	D;D;D;T	0.94537	-3.36;-3.45;-3.22;0.61	5.57	1.72	0.24424	.	0.395756	0.21644	N	0.071297	D	0.89178	0.6641	L	0.43923	1.385	0.18873	N	0.999989	D;D;D	0.63046	0.992;0.986;0.989	P;P;P	0.55345	0.711;0.711;0.774	D	0.83972	0.0327	10	0.66056	D	0.02	.	5.691	0.17829	0.0:0.2142:0.1317:0.6541	.	621;1226;1226	B4DLC4;O15056;O15056-3	.;SYNJ2_HUMAN;.	H	1181;1226;1226;311	ENSP00000356089:L1181H;ENSP00000356088:L1226H;ENSP00000347792:L1226H;ENSP00000356079:L311H	ENSP00000347792:L1226H	L	+	2	0	SYNJ2	158434057	0.004000	0.15560	0.010000	0.14722	0.105000	0.19272	0.473000	0.22132	-0.537000	0.06290	-0.133000	0.14855	CTC		0.592	SYNJ2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042858.2			8	65	0	0	0	1	0	8	65					A	158514069	T	A	158514069	3	1	227	1	0	0	0	0	1	0	0	0	15450	1551	54	5	3779	5	SYNJ2	6	158514069	Missense_Mutation	SNP	T	TCGA-HC-8213-01A-11D-A29Q-08		158514069	12600998	11	10460											
ADCY1	107	broad.mit.edu	37	chr7	45750138	45750138	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gttttctaggcatcaatgttGgccctgtggtggctggagtg	5	14	15	7	0	2	0	1	0	1	0	2	1	2	1	1	5	0	4	1	5	2	4			TCGA-HC-8213-01A-11D-A29Q-08	TCGA-HC-8213-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f375497-1993-42be-aae3-0c55638053e7	942d7fa6-03b5-4661-9806-b535058fed63	g.chr7:45750138G>T	ENST00000297323.7	+	19	2966	c.2944G>T	c.(2944-2946)Ggc>Tgc	p.G982C		NM_021116.2	NP_066939.1	Q08828	ADCY1_HUMAN	adenylate cyclase 1 (brain)	982					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|axonogenesis (GO:0007409)|cellular response to glucagon stimulus (GO:0071377)|circadian rhythm (GO:0007623)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|long-term memory (GO:0007616)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of circadian rhythm (GO:0042752)|response to drug (GO:0042493)|response to lithium ion (GO:0010226)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	71					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	CATCAATGTTGGCCCTGTGGT	0.577																																						ENST00000297323.7																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	71						c.(2944-2946)Ggc>Tgc		adenylate cyclase 1 (brain)	Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Adenosine(DB00640)						89	84	86					7																	45750138		2203	4300	6503	SO:0001583	missense	107				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding	g.chr7:45750138G>T	L05500	CCDS34631.1, CCDS75593.1	7p13-p12	2013-02-04			ENSG00000164742	ENSG00000164742	4.6.1.1	"Adenylate cyclases"	232	protein-coding gene	gene with protein product		103072				8314585	Standard	NM_021116		Approved	AC1	uc003tne.4	Q08828	OTTHUMG00000155420	ENST00000297323.7:c.2944G>T	7.37:g.45750138G>T	ENSP00000297323:p.Gly982Cys						p.G982C	NM_021116.2	NP_066939.1	Q08828	ADCY1_HUMAN			19	2966	+			982					A4D2L8|Q75MI1	Missense_Mutation	SNP	ENST00000297323.7	37	c.2944G>T	CCDS34631.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.308189	0.81247	.	.	ENSG00000164742	ENST00000297323;ENST00000545300	D	0.86769	-2.17	4.97	4.97	0.65823	Adenylyl cyclase class-3/4/guanylyl cyclase (5);	0.000000	0.85682	D	0.000000	D	0.96744	0.8937	H	0.99609	4.655	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98147	1.0439	10	0.87932	D	0	.	16.1123	0.81271	0.0:0.0:1.0:0.0	.	982	Q08828	ADCY1_HUMAN	C	982	ENSP00000297323:G982C	ENSP00000297323:G982C	G	+	1	0	ADCY1	45716663	1.000000	0.71417	0.968000	0.41197	0.695000	0.40330	9.044000	0.93805	2.739000	0.93911	0.561000	0.74099	GGC		0.577	ADCY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340055.2	NM_021116		8	115	1	0	0.000673444	1	0.000695168	8	115					T	45750138	G	T	45750138	3	4	227	1	0	0	0	0	1	0	0	0	292	1348	47	5	3018	5	ADCY1	7	45750138	Missense_Mutation	SNP	G	TCGA-HC-8213-01A-11D-A29Q-08		45750138	113388525	12	10461											
BAZ1B	9031	broad.mit.edu	37	chr7	72891995	72891995	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcgtgttgggcagcccttcaGgggtatccaccaatctgaat	8	10	12	11	1	2	1	1	1	1	0	3	1	3	1	3	3	1	3	3	3	3	3			TCGA-HC-8213-01A-11D-A29Q-08	TCGA-HC-8213-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f375497-1993-42be-aae3-0c55638053e7	942d7fa6-03b5-4661-9806-b535058fed63	g.chr7:72891995G>T	ENST00000339594.4	-	7	2134	c.1796C>A	c.(1795-1797)cCt>cAt	p.P599H	BAZ1B_ENST00000404251.1_Missense_Mutation_p.P599H	NM_032408.3	NP_115784.1	Q9UIG0	BAZ1B_HUMAN	bromodomain adjacent to zinc finger domain, 1B	599					cellular response to DNA damage stimulus (GO:0006974)|chromatin assembly or disassembly (GO:0006333)|chromatin-mediated maintenance of transcription (GO:0048096)|double-strand break repair (GO:0006302)|heart morphogenesis (GO:0003007)|histone phosphorylation (GO:0016572)|peptidyl-tyrosine phosphorylation (GO:0018108)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	condensed chromosome (GO:0000793)|nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|histone kinase activity (GO:0035173)|lysine-acetylated histone binding (GO:0070577)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)|vitamin D receptor activator activity (GO:0071884)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(5)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Lung NSC(55;0.0659)|all_lung(88;0.152)				CAGCCCTTCAGGGGTATCCAC	0.458																																					Esophageal Squamous(112;1167 1561 21085 43672 48228)	ENST00000339594.4																			0				NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(5)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						c.(1795-1797)cCt>cAt		bromodomain adjacent to zinc finger domain, 1B							115	125	121					7																	72891995		2203	4300	6503	SO:0001583	missense	9031				ATP-dependent chromatin remodeling|chromatin-mediated maintenance of transcription|DNA replication-dependent nucleosome disassembly|double-strand break repair|heart morphogenesis|transcription, DNA-dependent	WINAC complex	ATP binding|chromatin binding|histone acetyl-lysine binding|histone kinase activity|non-membrane spanning protein tyrosine kinase activity|protein complex scaffold|vitamin D receptor activator activity|vitamin D receptor binding|zinc ion binding	g.chr7:72891995G>T	AF084479	CCDS5549.1	7q11.23	2013-01-28			ENSG00000009954	ENSG00000009954		"Zinc fingers, PHD-type"	961	protein-coding gene	gene with protein product	"Williams-Beuren syndrome chromosome region 9", "Williams-Beuren syndrome chromosome region 10", "transcription factor WSTF"	605681		WBSCR9, WBSCR10		9858827, 9828126	Standard	NM_032408		Approved	WSTF	uc003tyc.3	Q9UIG0	OTTHUMG00000023847	ENST00000339594.4:c.1796C>A	7.37:g.72891995G>T	ENSP00000342434:p.Pro599His					BAZ1B_ENST00000404251.1_Missense_Mutation_p.P599H	p.P599H	NM_032408.3	NP_115784.1	Q9UIG0	BAZ1B_HUMAN			7	2134	-		Lung NSC(55;0.0659)|all_lung(88;0.152)	599					B9EGK3|D3DXE9|O95039|O95247|O95277|Q6P1K4|Q86UJ6	Missense_Mutation	SNP	ENST00000339594.4	37	c.1796C>A	CCDS5549.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.955094	0.73902	.	.	ENSG00000009954	ENST00000339594;ENST00000404251	T;T	0.66638	-0.22;-0.22	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	T	0.79423	0.4443	M	0.68952	2.095	0.80722	D	1	D	0.76494	0.999	P	0.60789	0.879	T	0.79072	-0.1953	10	0.52906	T	0.07	-17.4923	19.0882	0.93215	0.0:0.0:1.0:0.0	.	599	Q9UIG0	BAZ1B_HUMAN	H	599	ENSP00000342434:P599H;ENSP00000385442:P599H	ENSP00000342434:P599H	P	-	2	0	BAZ1B	72529931	1.000000	0.71417	0.969000	0.41365	0.974000	0.67602	9.161000	0.94739	2.760000	0.94817	0.655000	0.94253	CCT		0.458	BAZ1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252123.4	NM_032408		6	161	1	0	0.00198382	1	0.00198382	6	161					T	72891995	G	T	72891995	3	4	227	1	0	0	0	0	1	0	0	0	1330	1000	35	5	2707	5	BAZ1B	7	72891995	Missense_Mutation	SNP	G	TCGA-HC-8213-01A-11D-A29Q-08	27141857	72891995	86246668	13	10462											
SMARCA2	6595	broad.mit.edu	37	chr9	2039779	2039779	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caacaacagcagcagcaacaGcagcagcagcagcagcagca	17	0	10	14	0	0	0	0	0	0	0	0	0	0	0	0	0	13	10	0	0	3	0	rs376509101|rs62639301	byFrequency	TCGA-HC-8213-01A-11D-A29Q-08	TCGA-HC-8213-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f375497-1993-42be-aae3-0c55638053e7	942d7fa6-03b5-4661-9806-b535058fed63	g.chr9:2039779G>A	ENST00000382203.1	+	4	878	c.669G>A	c.(667-669)caG>caA	p.Q223Q	RP11-264I13.2_ENST00000426860.1_RNA|SMARCA2_ENST00000357248.2_Silent_p.Q223Q|SMARCA2_ENST00000382194.1_Silent_p.Q223Q|SMARCA2_ENST00000349721.2_Silent_p.Q223Q|SMARCA2_ENST00000491574.1_3'UTR			P51531	SMCA2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2	223	Poly-Gln.				aortic smooth muscle cell differentiation (GO:0035887)|ATP catabolic process (GO:0006200)|chromatin remodeling (GO:0006338)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)	intermediate filament cytoskeleton (GO:0045111)|intracellular membrane-bounded organelle (GO:0043231)|nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	ATP binding (GO:0005524)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|RNA polymerase II transcription coactivator activity (GO:0001105)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)		GBM - Glioblastoma multiforme(50;0.0475)		agcagcaacagcagcagcagc	0.642																																						ENST00000382203.1																			0				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	56						c.(667-669)caG>caA		SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2							10	13	12					9																	2039779		2187	4260	6447	SO:0001819	synonymous_variant	6595				chromatin remodeling|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development	intermediate filament cytoskeleton|nBAF complex|npBAF complex|nuclear chromatin|nucleoplasm|SWI/SNF complex|WINAC complex	ATP binding|DNA-dependent ATPase activity|helicase activity|protein binding|RNA polymerase II transcription coactivator activity|transcription regulatory region DNA binding	g.chr9:2039779G>A	D26155	CCDS34977.1, CCDS34978.1, CCDS75807.1, CCDS75808.1	9p24.3	2008-11-11	2006-11-09		ENSG00000080503	ENSG00000080503			11098	protein-coding gene	gene with protein product		600014		SNF2L2		8012116	Standard	NM_003070		Approved	BAF190, hSNF2a, hBRM, Sth1p, SNF2LA, BRM, SNF2, SWI2	uc003zhc.3	P51531	OTTHUMG00000019445	ENST00000382203.1:c.669G>A	9.37:g.2039779G>A						SMARCA2_ENST00000349721.2_Silent_p.Q223Q|SMARCA2_ENST00000357248.2_Silent_p.Q223Q|SMARCA2_ENST00000491574.1_3'UTR|SMARCA2_ENST00000382194.1_Silent_p.Q223Q	p.Q223Q			P51531	SMCA2_HUMAN		GBM - Glioblastoma multiforme(50;0.0475)	4	878	+		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)	223			Poly-Gln.		B1ALG3|B1ALG4|D3DRH4|D3DRH5	Silent	SNP	ENST00000382203.1	37	c.669G>A	CCDS34977.1																																																																																				0.642	SMARCA2-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000051505.1	NM_003070		5	48	0	0	0	1	0	5	48					A	2039779	G	A	2039779	2	1	227	1	0	0	0	0	0	0	0	1	14769	962	34	3		3	SMARCA2	9	2039779	Silent	SNP	G	TCGA-HC-8213-01A-11D-A29Q-08		2039779	139173652	14	10463											
RAPGEF1	2889	broad.mit.edu	37	chr9	134503405	134503405	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctatgctgctgcagggggAgaggcggggcgactctccac	6	6	17	12	2	1	1	0	0	1	1	2	3	1	1	2	5	3	3	2	5	1	1			TCGA-HC-8213-01A-11D-A29Q-08	TCGA-HC-8213-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f375497-1993-42be-aae3-0c55638053e7	942d7fa6-03b5-4661-9806-b535058fed63	g.chr9:134503405A>G	ENST00000372189.3	-	9	1168	c.1045T>C	c.(1045-1047)Tcc>Ccc	p.S349P	RAPGEF1_ENST00000372190.3_Missense_Mutation_p.S367P|RAPGEF1_ENST00000372195.1_Missense_Mutation_p.S366P|RAPGEF1_ENST00000481260.1_5'UTR	NM_005312.2	NP_005303.2	Q13905	RPGF1_HUMAN	Rap guanine nucleotide exchange factor (GEF) 1	349					activation of MAPKK activity (GO:0000186)|blood vessel development (GO:0001568)|cellular response to cAMP (GO:0071320)|cellular response to nerve growth factor stimulus (GO:1990090)|establishment of endothelial barrier (GO:0061028)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of neural precursor cell proliferation (GO:2000178)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of Ras protein signal transduction (GO:0046580)|nerve growth factor signaling pathway (GO:0038180)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of neuron projection development (GO:0010976)|positive regulation of Rap GTPase activity (GO:0032854)|Rap protein signal transduction (GO:0032486)|regulation of cell junction assembly (GO:1901888)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytosol (GO:0005829)|early endosome (GO:0005769)|endosome (GO:0005768)	Rap guanyl-nucleotide exchange factor activity (GO:0017034)			NS(2)|breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|lung(9)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1)	39		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;2.19e-05)|Epithelial(140;0.000364)		CTGCAGGGGGAGAGGCGGGGC	0.552																																						ENST00000372195.1																			0				NS(2)|breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|lung(9)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1)	39						c.(1096-1098)Tcc>Ccc		Rap guanine nucleotide exchange factor (GEF) 1							31	35	33					9																	134503405		2140	4240	6380	SO:0001583	missense	2889				activation of MAPKK activity|nerve growth factor receptor signaling pathway|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|endosome	guanyl-nucleotide exchange factor activity|SH3 domain binding	g.chr9:134503405A>G	BC041710	CCDS48047.1	9q34.3	2008-02-05	2004-03-01	2004-03-02	ENSG00000107263	ENSG00000107263			4568	protein-coding gene	gene with protein product		600303	"guanine nucleotide-releasing factor 2 (specific for crk proto-oncogene)"	GRF2		7959692, 7512734	Standard	NM_005312		Approved	C3G	uc022bos.1	Q13905	OTTHUMG00000020829	ENST00000372189.3:c.1045T>C	9.37:g.134503405A>G	ENSP00000361263:p.Ser349Pro					RAPGEF1_ENST00000372190.3_Missense_Mutation_p.S367P|RAPGEF1_ENST00000481260.1_5'UTR|RAPGEF1_ENST00000372189.3_Missense_Mutation_p.S349P	p.S366P			Q13905	RPGF1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;2.19e-05)|Epithelial(140;0.000364)	9	1339	-		Myeloproliferative disorder(178;0.204)	349					Q5JUE4|Q8IV73	Missense_Mutation	SNP	ENST00000372189.3	37	c.1096T>C	CCDS48047.1	.	.	.	.	.	.	.	.	.	.	A	25.4	4.636892	0.87760	.	.	ENSG00000107263	ENST00000266110;ENST00000372195;ENST00000429421;ENST00000372189;ENST00000372190;ENST00000411834;ENST00000337036;ENST00000372191;ENST00000357686	T;T;T	0.48201	0.82;0.82;0.82	5.14	5.14	0.70334	.	0.000000	0.85682	D	0.000000	T	0.65450	0.2692	M	0.64997	1.995	0.52501	D	0.999952	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.85130	0.993;0.993;0.997	T	0.67768	-0.5585	10	0.56958	D	0.05	.	14.1451	0.65347	1.0:0.0:0.0:0.0	.	366;349;367	Q68DL3;Q13905;Q13905-3	.;RPGF1_HUMAN;.	P	349;366;243;349;367;329;275;44;366	ENSP00000361269:S366P;ENSP00000361263:S349P;ENSP00000361264:S367P	ENSP00000266110:S349P	S	-	1	0	RAPGEF1	133493226	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	8.665000	0.91144	1.936000	0.56123	0.482000	0.46254	TCC		0.552	RAPGEF1-001	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054759.2	NM_005312		3	12	0	0	0	1	0	3	12					G	134503405	A	G	134503405	3	3	227	1	0	0	0	0	1	0	0	0	13043	304	11	4	2252	4	RAPGEF1	9	134503405	Missense_Mutation	SNP	A	TCGA-HC-8213-01A-11D-A29Q-08	132463626	134503405	6710026	15	10464											
MUC6	4588	broad.mit.edu	37	chr11	1027159	1027159	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acccaggaacatctgtggccGctgcgggcaactcagccgcc	8	5	12	16	3	2	0	1	0	1	0	2	1	2	1	4	3	4	2	4	3	2	0			TCGA-HC-8213-01A-11D-A29Q-08	TCGA-HC-8213-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f375497-1993-42be-aae3-0c55638053e7	942d7fa6-03b5-4661-9806-b535058fed63	g.chr11:1027159G>A	ENST00000421673.2	-	18	2316	c.2266C>T	c.(2266-2268)Cgg>Tgg	p.R756W		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	756					cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)	extracellular matrix structural constituent (GO:0005201)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		ATCTGTGGCCGCTGCGGGCAA	0.701																																						ENST00000421673.2																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						c.(2266-2268)Cgg>Tgg		mucin 6, oligomeric mucus/gel-forming							25	36	33					11																	1027159		1985	4151	6136	SO:0001583	missense	4588				maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent	g.chr11:1027159G>A	U97698, AY312160	CCDS44513.1	11p15.5	2008-02-05	2006-03-14		ENSG00000184956	ENSG00000184956		"Mucins"	7517	protein-coding gene	gene with protein product		158374	"mucin 6, gastric"			7680650	Standard	NM_005961		Approved		uc001lsw.2	Q6W4X9	OTTHUMG00000165140	ENST00000421673.2:c.2266C>T	11.37:g.1027159G>A	ENSP00000406861:p.Arg756Trp						p.R756W	NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	18	2316	-		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	756					O15329|Q14394|Q2TUQ5|Q4L207|Q8N8I1|Q8NAK1	Missense_Mutation	SNP	ENST00000421673.2	37	c.2266C>T	CCDS44513.1	.	.	.	.	.	.	.	.	.	.	g	12.67	2.007114	0.35415	.	.	ENSG00000184956	ENST00000421673	T	0.19532	2.14	4.15	3.21	0.36854	.	.	.	.	.	T	0.27313	0.0670	L	0.27053	0.805	0.09310	N	1	D	0.71674	0.998	P	0.57620	0.824	T	0.09335	-1.0679	9	0.66056	D	0.02	.	11.9803	0.53115	0.0:0.0:0.8263:0.1736	.	756	Q6W4X9	MUC6_HUMAN	W	756	ENSP00000406861:R756W	ENSP00000406861:R756W	R	-	1	2	MUC6	1017159	0.007000	0.16637	0.002000	0.10522	0.009000	0.06853	1.140000	0.31516	1.022000	0.39626	0.556000	0.70494	CGG		0.701	MUC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382120.2	XM_290540		5	92	0	0	0	1	0	5	92					A	1027159	G	A	1027159	3	1	227	1	0	0	0	0	1	0	0	0	9980	1086	38	1	5117	1	MUC6	11	1027159	Missense_Mutation	SNP	G	TCGA-HC-8213-01A-11D-A29Q-08		1027159	133979357	16	10465											
KBTBD6	89890	broad.mit.edu	37	chr13	41705461	41705461	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcctgggctgagcagctagaTagatgtcatggtcaggagag	10	9	15	7	0	2	4	2	1	0	3	3	5	3	4	1	3	2	3	1	3	2	2			TCGA-HC-8213-01A-11D-A29Q-08	TCGA-HC-8213-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f375497-1993-42be-aae3-0c55638053e7	942d7fa6-03b5-4661-9806-b535058fed63	g.chr13:41705461T>A	ENST00000379485.1	-	1	1421	c.1187A>T	c.(1186-1188)tAt>tTt	p.Y396F	KBTBD6_ENST00000499385.2_Missense_Mutation_p.Y330F	NM_152903.4	NP_690867.3	Q86V97	KBTB6_HUMAN	kelch repeat and BTB (POZ) domain containing 6	396										NS(1)|breast(1)|endometrium(8)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|skin(4)|urinary_tract(4)	43		Lung NSC(96;4.52e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)		all cancers(112;4.08e-09)|Epithelial(112;4.74e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000131)|GBM - Glioblastoma multiforme(144;0.000876)|BRCA - Breast invasive adenocarcinoma(63;0.0673)		AGCAGCTAGATAGATGTCATG	0.517																																						ENST00000379485.1																			0				NS(1)|breast(1)|endometrium(8)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|skin(4)|urinary_tract(4)	43						c.(1186-1188)tAt>tTt		kelch repeat and BTB (POZ) domain containing 6							119	109	113					13																	41705461		2203	4300	6503	SO:0001583	missense	89890						protein binding	g.chr13:41705461T>A	AK056633	CCDS9376.1	13q13.3	2013-01-08			ENSG00000165572	ENSG00000165572		"BTB/POZ domain containing"	25340	protein-coding gene	gene with protein product						12477932	Standard	NM_152903		Approved	DKFZp547E1912	uc001uxu.1	Q86V97	OTTHUMG00000016786	ENST00000379485.1:c.1187A>T	13.37:g.41705461T>A	ENSP00000368799:p.Tyr396Phe					KBTBD6_ENST00000499385.2_Missense_Mutation_p.Y330F	p.Y396F	NM_152903.4	NP_690867.3	Q86V97	KBTB6_HUMAN		all cancers(112;4.08e-09)|Epithelial(112;4.74e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000131)|GBM - Glioblastoma multiforme(144;0.000876)|BRCA - Breast invasive adenocarcinoma(63;0.0673)	1	1421	-		Lung NSC(96;4.52e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)	396					Q5T6Y8|Q8N8L0|Q8NDM5|Q96MP6	Missense_Mutation	SNP	ENST00000379485.1	37	c.1187A>T	CCDS9376.1	.	.	.	.	.	.	.	.	.	.	t	6.486	0.457897	0.12342	.	.	ENSG00000165572	ENST00000379485;ENST00000499385	T;T	0.73575	-0.76;-0.76	3.8	2.62	0.31277	Kelch-type beta propeller (1);	0.073479	0.56097	D	0.000034	T	0.63733	0.2536	L	0.49350	1.555	0.29537	N	0.852397	B;B	0.34255	0.404;0.445	B;B	0.34931	0.192;0.077	T	0.57148	-0.7861	10	0.30854	T	0.27	.	6.7322	0.23388	0.0:0.1222:0.0:0.8778	.	330;396	F5GZN7;Q86V97	.;KBTB6_HUMAN	F	396;330	ENSP00000368799:Y396F;ENSP00000444326:Y330F	ENSP00000368799:Y396F	Y	-	2	0	KBTBD6	40603461	1.000000	0.71417	0.788000	0.31933	0.203000	0.24098	1.830000	0.39131	0.649000	0.30751	0.379000	0.24179	TAT		0.517	KBTBD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044657.1	NM_152903		78	101	0	0	0	1	0	78	101					A	41705461	T	A	41705461	3	1	227	1	0	0	0	0	1	0	0	0	7997	1406	49	5	841	5	KBTBD6	13	41705461	Missense_Mutation	SNP	T	TCGA-HC-8213-01A-11D-A29Q-08		41705461	73464417	17	10466											
LMO7	4008	broad.mit.edu	37	chr13	76379699	76379699	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcctcttgttatttggaagaGgaaaaagcaaagacaagaag	17	9	10	5	0	1	3	0	0	1	3	2	5	2	5	1	2	1	2	1	2	7	3			TCGA-HC-8213-01A-11D-A29Q-08	TCGA-HC-8213-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f375497-1993-42be-aae3-0c55638053e7	942d7fa6-03b5-4661-9806-b535058fed63	g.chr13:76379699G>A	ENST00000321797.8	+	7	1021	c.300G>A	c.(298-300)gaG>gaA	p.E100E	LMO7_ENST00000526202.1_Intron|LMO7_ENST00000357063.3_Silent_p.E385E|LMO7_ENST00000377534.3_Silent_p.E385E|RP11-29G8.3_ENST00000563635.1_RNA|LMO7_ENST00000341547.4_Intron|LMO7_ENST00000465261.2_Silent_p.E100E			Q8WWI1	LMO7_HUMAN	LIM domain 7	385	CH. {ECO:0000255|PROSITE- ProRule:PRU00044}.				protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(20)|lung(15)|ovary(2)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		Breast(118;0.0992)		GBM - Glioblastoma multiforme(99;0.0109)		ATTTGGAAGAGGAAAAAGCAA	0.433																																						ENST00000357063.3																			0				NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(20)|lung(15)|ovary(2)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	56						c.(1153-1155)gaG>gaA		LIM domain 7							211	191	197					13																	76379699		1568	3582	5150	SO:0001819	synonymous_variant	4008					cytoplasm|nucleus|ubiquitin ligase complex	ubiquitin-protein ligase activity|zinc ion binding	g.chr13:76379699G>A	AF092557	CCDS9454.1, CCDS53876.1	13q22.2	2008-02-05	2004-06-15		ENSG00000136153	ENSG00000136153			6646	protein-coding gene	gene with protein product	"F-box only protein 20"	604362	"LIM domain only 7"	FBXO20		9826547, 10531035	Standard	NM_005358		Approved	FBX20, KIAA0858	uc021rkq.1	Q8WWI1	OTTHUMG00000017093	ENST00000321797.8:c.300G>A	13.37:g.76379699G>A						LMO7_ENST00000465261.2_Silent_p.E100E|RP11-29G8.3_ENST00000563635.1_RNA|LMO7_ENST00000341547.4_Intron|LMO7_ENST00000321797.8_Silent_p.E100E|LMO7_ENST00000377534.3_Silent_p.E385E|LMO7_ENST00000526202.1_Intron	p.E385E			Q8WWI1	LMO7_HUMAN		GBM - Glioblastoma multiforme(99;0.0109)	10	2415	+		Breast(118;0.0992)	385					E9PLH4|O15462|O95346|Q5TBK6|Q9UKC1|Q9UQM5|Q9Y6A7	Silent	SNP	ENST00000321797.8	37	c.1155G>A																																																																																					0.433	LMO7-005	PUTATIVE	alternative_5_UTR|not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000045301.3	NM_005358		5	197	0	0	0	1	0	5	197					A	76379699	G	A	76379699	2	1	227	1	0	0	0	0	0	0	0	1	8855	991	35	3		3	LMO7	13	76379699	Silent	SNP	G	TCGA-HC-8213-01A-11D-A29Q-08	34674238	76379699	38790179	18	10467											
ZSCAN2	54993	broad.mit.edu	37	chr15	85164527	85164527	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccctacgaatgtaaagaatgCggcgaaagctttagttacaa	15	9	9	8	3	0	1	0	0	0	1	0	3	0	1	1	1	4	3	1	1	9	5	rs199585522	byFrequency	TCGA-HC-8213-01A-11D-A29Q-08	TCGA-HC-8213-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f375497-1993-42be-aae3-0c55638053e7	942d7fa6-03b5-4661-9806-b535058fed63	g.chr15:85164527C>T	ENST00000448803.2	+	3	1393	c.1101C>T	c.(1099-1101)tgC>tgT	p.C367C	ZSCAN2_ENST00000327179.6_Silent_p.C366C|ZSCAN2_ENST00000358472.3_Silent_p.C217C|ZSCAN2_ENST00000546148.1_Silent_p.C367C|ZSCAN2_ENST00000541040.1_Intron|ZSCAN2_ENST00000485222.2_Intron|ZSCAN2_ENST00000538076.1_Intron	NM_181877.3	NP_870992.2	Q7Z7L9	ZSCA2_HUMAN	zinc finger and SCAN domain containing 2	367					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.C367C(1)		breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(7)|liver(2)|lung(4)|ovary(1)|pancreas(1)	19				UCEC - Uterine corpus endometrioid carcinoma (272;0.168)|all cancers(203;5.43e-22)		GTAAAGAATGCGGCGAAAGCT	0.502													C|||	13	0.00259585	0	0	5008	,	,		18127	0.0099		0	False		,,,				2504	0.0031					ENST00000448803.2																			1	Substitution - coding silent(1)	p.C367C(1)	kidney(1)	breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(7)|liver(2)|lung(4)|ovary(1)|pancreas(1)	19						c.(1099-1101)tgC>tgT		zinc finger and SCAN domain containing 2		C		2,4404	4.2+/-10.8	0,2,2201	133	138	136		1101	-3.2	0.8	15		136	3,8595	3.0+/-9.4	0,3,4296	no	coding-synonymous	ZSCAN2	NM_181877.3		0,5,6497	TT,TC,CC		0.0349,0.0454,0.0384		367/615	85164527	5,12999	2203	4299	6502	SO:0001819	synonymous_variant	54993				cell differentiation|multicellular organismal development|spermatogenesis|viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr15:85164527C>T	BC041620	CCDS10329.2, CCDS32315.1, CCDS32316.1	15q25.2	2013-01-08	2004-11-01	2004-11-02	ENSG00000176371	ENSG00000176371		"-", "Zinc fingers, C2H2-type"	20994	protein-coding gene	gene with protein product			"zinc finger protein 29"	ZFP29		1937051	Standard	NM_017894		Approved	FLJ20595, ZNF854	uc002bkr.3	Q7Z7L9	OTTHUMG00000074027	ENST00000448803.2:c.1101C>T	15.37:g.85164527C>T						ZSCAN2_ENST00000485222.2_Intron|ZSCAN2_ENST00000546148.1_Silent_p.C367C|ZSCAN2_ENST00000538076.1_Intron|ZSCAN2_ENST00000327179.6_Silent_p.C366C|ZSCAN2_ENST00000541040.1_Intron|ZSCAN2_ENST00000358472.3_Silent_p.C217C	p.C367C	NM_181877.3	NP_870992.2	Q7Z7L9	ZSCA2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (272;0.168)|all cancers(203;5.43e-22)	3	1393	+			367					A6NG83|B2RMQ9|Q6ZQY9|Q9NWU4	Silent	SNP	ENST00000448803.2	37	c.1101C>T	CCDS10329.2																																																																																				0.502	ZSCAN2-007	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396956.1	NM_017894		4	255	0	0	0	1	0	4	255					T	85164527	C	T	85164527	2	4	227	1	0	0	0	0	0	0	0	1	18228	776	27	1		1	ZSCAN2	15	85164527	Silent	SNP	C	TCGA-HC-8213-01A-11D-A29Q-08		85164527	17366865	19	10468											
ZSCAN10	84891	broad.mit.edu	37	chr16	3139130	3139130	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggcgtgggtgcgcaggtggcGcagcaggtgggagttgcggc	4	6	23	8	4	0	0	0	0	0	0	0	1	0	1	0	7	3	4	0	7	0	1			TCGA-HC-8213-01A-11D-A29Q-08	TCGA-HC-8213-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f375497-1993-42be-aae3-0c55638053e7	942d7fa6-03b5-4661-9806-b535058fed63	g.chr16:3139130G>A	ENST00000252463.2	-	5	2227	c.2140C>T	c.(2140-2142)Cgc>Tgc	p.R714C	ZSCAN10_ENST00000538082.2_Missense_Mutation_p.R632C|RP11-473M20.9_ENST00000571404.1_lincRNA|ZSCAN10_ENST00000575108.1_Missense_Mutation_p.R375C|RNU1-22P_ENST00000363334.1_RNA	NM_032805.1	NP_116194.1	Q96SZ4	ZSC10_HUMAN	zinc finger and SCAN domain containing 10	714					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|cervix(3)|endometrium(3)|kidney(1)|lung(8)|ovary(2)|prostate(1)|skin(4)|urinary_tract(1)	24						CGCAGGTGGCGCAGCAGGTGG	0.711																																						ENST00000252463.2																			0				breast(1)|cervix(3)|endometrium(3)|kidney(1)|lung(8)|ovary(2)|prostate(1)|skin(4)|urinary_tract(1)	24						c.(2140-2142)Cgc>Tgc		zinc finger and SCAN domain containing 10							12	13	13					16																	3139130		2152	4248	6400	SO:0001583	missense	84891				negative regulation of transcription, DNA-dependent|viral reproduction	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr16:3139130G>A	AA206569	CCDS10493.1, CCDS61813.1, CCDS61814.1	16p13.3	2013-01-08	2007-02-20	2007-02-20		ENSG00000130182		"-", "Zinc fingers, C2H2-type"	12997	protein-coding gene	gene with protein product			"zinc finger protein 206"	ZNF206		9653642	Standard	NM_032805		Approved		uc002ctv.1	Q96SZ4		ENST00000252463.2:c.2140C>T	16.37:g.3139130G>A	ENSP00000252463:p.Arg714Cys					ZSCAN10_ENST00000575108.1_Missense_Mutation_p.R375C|ZSCAN10_ENST00000538082.2_Missense_Mutation_p.R632C	p.R714C	NM_032805.1	NP_116194.1	Q96SZ4	ZSC10_HUMAN			5	2227	-			714					B3KQD3|H0YFS6|Q1WWM2	Missense_Mutation	SNP	ENST00000252463.2	37	c.2140C>T	CCDS10493.1	.	.	.	.	.	.	.	.	.	.	G	17.44	3.389822	0.61956	.	.	ENSG00000130182	ENST00000538082;ENST00000252463	T	0.56275	0.47	4.95	3.9	0.45041	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.48286	D	0.000191	T	0.71576	0.3356	M	0.83953	2.67	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.997;0.998;0.98	T	0.74548	-0.3629	10	0.54805	T	0.06	-50.5	11.237	0.48946	0.0:0.0:0.8045:0.1955	.	375;647;714	Q96SZ4-2;Q1WWM2;Q96SZ4	.;.;ZSC10_HUMAN	C	647;714	ENSP00000252463:R714C	ENSP00000252463:R714C	R	-	1	0	ZSCAN10	3079131	0.000000	0.05858	1.000000	0.80357	0.998000	0.95712	0.000000	0.12993	2.291000	0.77112	0.561000	0.74099	CGC		0.711	ZSCAN10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437124.2	NM_032805		5	13	0	0	0	1	0	5	13					A	3139130	G	A	3139130	3	1	227	1	0	0	0	0	1	0	0	0	18224	1087	38	1	41	1	ZSCAN10	16	3139130	Missense_Mutation	SNP	G	TCGA-HC-8213-01A-11D-A29Q-08		3139130	87215623	20	10469											
WWOX	51741	broad.mit.edu	37	chr16	78466400	78466400	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttaagatttacagatattaaCgactccttgggaaaactgga	15	12	8	6	1	0	2	0	0	0	2	1	5	1	4	1	2	3	0	1	2	6	6	rs62034095	byFrequency	TCGA-HC-8213-01A-11D-A29Q-08	TCGA-HC-8213-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f375497-1993-42be-aae3-0c55638053e7	942d7fa6-03b5-4661-9806-b535058fed63	g.chr16:78466400C>T	ENST00000566780.1	+	8	1173	c.807C>T	c.(805-807)aaC>aaT	p.N269N	WWOX_ENST00000406884.2_Intron|WWOX_ENST00000408984.3_Silent_p.N269N|WWOX_ENST00000539474.2_Intron|WWOX_ENST00000402655.2_Intron	NM_016373.2	NP_057457.1	Q9NZC7	WWOX_HUMAN	WW domain containing oxidoreductase	269	Interaction with MAPT. {ECO:0000250}.|Mediates targeting to the mitochondria. {ECO:0000250}.				cellular response to transforming growth factor beta stimulus (GO:0071560)|extrinsic apoptotic signaling pathway (GO:0097191)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|negative regulation of Wnt signaling pathway (GO:0030178)|osteoblast differentiation (GO:0001649)|oxidation-reduction process (GO:0055114)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal system morphogenesis (GO:0048705)|steroid metabolic process (GO:0008202)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	coenzyme binding (GO:0050662)|cofactor binding (GO:0048037)|enzyme binding (GO:0019899)|oxidoreductase activity (GO:0016491)|protein dimerization activity (GO:0046983)			large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)	7		all_cancers(2;1.97e-181)|all_epithelial(2;3.85e-160)|all_lung(2;2.03e-39)|Lung NSC(2;7.16e-35)|Colorectal(2;6.96e-21)|all_hematologic(2;1.13e-16)|Melanoma(2;5.16e-06)|all_neural(2;8.84e-06)|Renal(2;5.26e-05)|Medulloblastoma(2;0.00498)|Breast(2;0.00631)|Lung SC(2;0.0261)|Prostate(104;0.167)		UCEC - Uterine corpus endometrioid carcinoma (2;0.012)|Epithelial(1;2.65e-39)|all cancers(1;3.26e-34)|STAD - Stomach adenocarcinoma(1;5.1e-20)|COAD - Colon adenocarcinoma(1;1.04e-11)|Colorectal(1;3.4e-11)|OV - Ovarian serous cystadenocarcinoma(1;1.01e-10)|BRCA - Breast invasive adenocarcinoma(1;0.00196)|Kidney(780;0.232)		CAGATATTAACGACTCCTTGG	0.398																																						ENST00000566780.1																			0				large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)	7						c.(805-807)aaC>aaT		WW domain containing oxidoreductase		C		2,3756		0,2,1877	109	111	111		807	-11.9	0.1	16	dbSNP_129	111	16,8186		0,16,4085	no	coding-synonymous	WWOX	NM_016373.2		0,18,5962	TT,TC,CC		0.1951,0.0532,0.1505		269/415	78466400	18,11942	1879	4101	5980	SO:0001819	synonymous_variant	51741				apoptosis|negative regulation of Wnt receptor signaling pathway|steroid metabolic process|Wnt receptor signaling pathway	Golgi apparatus|mitochondrion|nucleus	coenzyme binding|oxidoreductase activity|protein dimerization activity	g.chr16:78466400C>T	AF187015	CCDS42196.1, CCDS42197.1	16q23.3-q24.1	2012-08-15	2002-01-14		ENSG00000186153	ENSG00000186153	1.1.1.-	"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"	12799	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 41C, member 1"	605131	"WW domain-containing oxidoreductase"			10786676, 10861292, 19027726	Standard	XR_243411		Approved	FOR, WOX1, SDR41C1	uc002ffk.3	Q9NZC7	OTTHUMG00000176851	ENST00000566780.1:c.807C>T	16.37:g.78466400C>T						WWOX_ENST00000408984.3_Silent_p.N269N|WWOX_ENST00000539474.2_Intron|WWOX_ENST00000406884.2_Intron|WWOX_ENST00000402655.2_Intron	p.N269N	NM_016373.2	NP_057457.1	Q9NZC7	WWOX_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (2;0.012)|Epithelial(1;2.65e-39)|all cancers(1;3.26e-34)|STAD - Stomach adenocarcinoma(1;5.1e-20)|COAD - Colon adenocarcinoma(1;1.04e-11)|Colorectal(1;3.4e-11)|OV - Ovarian serous cystadenocarcinoma(1;1.01e-10)|BRCA - Breast invasive adenocarcinoma(1;0.00196)|Kidney(780;0.232)	8	1173	+		all_cancers(2;1.97e-181)|all_epithelial(2;3.85e-160)|all_lung(2;2.03e-39)|Lung NSC(2;7.16e-35)|Colorectal(2;6.96e-21)|all_hematologic(2;1.13e-16)|Melanoma(2;5.16e-06)|all_neural(2;8.84e-06)|Renal(2;5.26e-05)|Medulloblastoma(2;0.00498)|Breast(2;0.00631)|Lung SC(2;0.0261)|Prostate(104;0.167)	269			Interaction with MAPT (By similarity).|Mediates targeting to the mitochondria (By similarity).		A8K323|Q5MYT5|Q96KM3|Q96RF2|Q9BTT8|Q9NPC9|Q9NRF4|Q9NRF5|Q9NRF6|Q9NRK1|Q9NZC5	Silent	SNP	ENST00000566780.1	37	c.807C>T	CCDS42196.1	.	.	.	.	.	.	.	.	.	.	C	0.015	-1.570998	0.00895	5.32E-4	0.001951	ENSG00000186153	ENST00000299644	.	.	.	5.93	-11.9	0.00025	.	.	.	.	.	T	0.64271	0.2583	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.80928	-0.1163	5	0.66056	D	0.02	.	13.1839	0.59670	0.1052:0.195:0.0:0.6998	rs62034095	.	.	.	M	112	.	ENSP00000299644:T112M	T	+	2	0	WWOX	77023901	0.002000	0.14202	0.083000	0.20561	0.023000	0.10783	-1.504000	0.02275	-2.371000	0.00602	-2.048000	0.00412	ACG		0.398	WWOX-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434328.1			29	58	0	0	0	1	0	29	58					T	78466400	C	T	78466400	2	4	227	1	0	0	0	0	0	0	0	1	17411	535	19	1		1	WWOX	16	78466400	Silent	SNP	C	TCGA-HC-8213-01A-11D-A29Q-08	75327270	78466400	11888353	21	10470											
KIAA0664	23277	broad.mit.edu	37	chr17	2606635	2606635	+	Frame_Shift_Del	DEL	C	C	-																															ccaccacacgcagcacagagCcctcctgcagcccctcgacg																										TCGA-HC-8213-01A-11D-A29Q-08	TCGA-HC-8213-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f375497-1993-42be-aae3-0c55638053e7	942d7fa6-03b5-4661-9806-b535058fed63	g.chr17:2606635delC	ENST00000570628.2	-	3	443	c.338delG	c.(337-339)ggcfs	p.G113fs	CLUH_ENST00000435359.1_Frame_Shift_Del_p.G113fs|CLUH_ENST00000538975.1_Frame_Shift_Del_p.G113fs			O75153	CLU_HUMAN	clustered mitochondria (cluA/CLU1) homolog	113					intracellular distribution of mitochondria (GO:0048312)	cytoplasm (GO:0005737)											CAGCACAGAGCCCTCCTGCAG	0.667																																						ENST00000570628.1																			0											c.(337-339)gcfs		clustered mitochondria (cluA/CLU1) homolog							30	34	33					17																	2606635		2191	4282	6473	SO:0001589	frameshift_variant	23277							g.chr17:2606635delC	AB014564	CCDS45572.1	17p13.3	2012-12-18	2012-11-30	2012-11-30	ENSG00000132361	ENSG00000132361			29094	protein-coding gene	gene with protein product			"KIAA0664"	KIAA0664			Standard	XM_005256567		Approved	CLU1	uc002fuy.1	O75153	OTTHUMG00000177575	ENST00000570628.2:c.338delG	17.37:g.2606635delC	ENSP00000458986:p.Gly113fs					CLUH_ENST00000575014.1_Frame_Shift_Del_p.G45fs|CLUH_ENST00000538975.1_Frame_Shift_Del_p.G113fs|CLUH_ENST00000435359.1_Frame_Shift_Del_p.G113fs	p.G113fs							3	443	-								Q6AHY2|Q6P3X7|Q6ZUG8|Q8N4U7|Q9BTA3|Q9H979	Frame_Shift_Del	DEL	ENST00000570628.2	37	c.338delG	CCDS45572.1																																																																																				0.667	CLUH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437807.2	NM_015229		7	11						7	11	---	---	---	---	-	2606635	C	-	2606635	7	5	227	1	0	1	0	1	0	0	0	0	8189	739	26	0	3687	0	KIAA0664	17	2606635	Frame_Shift_Del	DEL	C	TCGA-HC-8213-01A-11D-A29Q-08		2606635	78588575	22	10471											
CD300LB	124599	broad.mit.edu	37	chr17	72522000	72522000	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctccatggtcacagtgaacGtgcggtctttctgattgtcc	6	13	10	12	2	3	2	1	2	2	0	5	2	5	2	3	2	2	0	3	2	1	2	rs374822987		TCGA-HC-8213-01A-11D-A29Q-08	TCGA-HC-8213-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f375497-1993-42be-aae3-0c55638053e7	942d7fa6-03b5-4661-9806-b535058fed63	g.chr17:72522000G>A	ENST00000392621.1	-	2	372	c.368C>T	c.(367-369)aCg>aTg	p.T123M	CD300LB_ENST00000314401.3_Missense_Mutation_p.T123M	NM_174892.2	NP_777552	A8K4G0	CLM7_HUMAN	CD300 molecule-like family member b	86					cellular response to lipopolysaccharide (GO:0071222)|innate immune response (GO:0045087)|neutrophil mediated immunity (GO:0002446)|positive regulation of mast cell activation (GO:0033005)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(1)	21						CACAGTGAACGTGCGGTCTTT	0.522																																						ENST00000392621.1																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(1)	21						c.(367-369)aCg>aTg		CD300 molecule-like family member b		G	MET/THR	0,4406		0,0,2203	256	226	236		368	-5.7	0	17		236	1,8599	1.2+/-3.3	0,1,4299	no	missense	CD300LB	NM_174892.2	81	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	123/239	72522000	1,13005	2203	4300	6503	SO:0001583	missense	124599					integral to membrane|plasma membrane	receptor activity	g.chr17:72522000G>A	AF427618	CCDS11700.1, CCDS11700.2	17q25.1	2013-01-11	2006-03-29		ENSG00000178789	ENSG00000178789		"Immunoglobulin superfamily / V-set domain containing"	30811	protein-coding gene	gene with protein product	"triggering receptor expressed on myeloid cells 5"	610705	"CD300 antigen like family member B"			12975309	Standard	NM_174892		Approved	TREM5, CLM7	uc002jkx.2	A8K4G0	OTTHUMG00000067606	ENST00000392621.1:c.368C>T	17.37:g.72522000G>A	ENSP00000376397:p.Thr123Met					CD300LB_ENST00000314401.3_Missense_Mutation_p.T123M	p.T123M	NM_174892.2	NP_777552.2	A8K4G0	CLM7_HUMAN			2	372	-			86					Q1EG73|Q8IX40|Q8N6D1	Missense_Mutation	SNP	ENST00000392621.1	37	c.368C>T	CCDS11700.1	.	.	.	.	.	.	.	.	.	.	G	6.217	0.408131	0.11754	0.0	1.16E-4	ENSG00000178789	ENST00000392621;ENST00000314401	T	0.66995	-0.24	5.17	-5.66	0.02451	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	2.115730	0.02066	N	0.051141	T	0.65863	0.2732	M	0.87682	2.9	0.09310	N	1	B;B	0.33000	0.179;0.393	B;B	0.25140	0.058;0.058	T	0.57745	-0.7758	10	0.48119	T	0.1	-3.7919	8.0694	0.30680	0.5423:0.1097:0.348:0.0	.	123;86	B4DQ71;A8K4G0	.;CLM7_HUMAN	M	86;123	ENSP00000317337:T123M	ENSP00000317337:T123M	T	-	2	0	CD300LB	70033595	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.255000	0.02872	-1.007000	0.03408	-2.376000	0.00234	ACG		0.522	CD300LB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000145082.2	NM_174892		10	185	0	0	0	1	0	10	185					A	72522000	G	A	72522000	3	1	227	1	0	0	0	0	1	0	0	0	2999	1145	40	1	360	1	CD300LB	17	72522000	Missense_Mutation	SNP	G	TCGA-HC-8213-01A-11D-A29Q-08	69915365	72522000	8673210	23	10472			1	25		2	2	98	G		7.8332e-05
CD300LB	124599	broad.mit.edu	37	chr17	72522097	72522097	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gatcttgcatgtatcccagcGcacccctcggcaccaccact	8	8	7	18	2	1	0	0	0	1	0	3	1	2	0	5	1	2	4	5	1	1	2			TCGA-HC-8213-01A-11D-A29Q-08	TCGA-HC-8213-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f375497-1993-42be-aae3-0c55638053e7	942d7fa6-03b5-4661-9806-b535058fed63	g.chr17:72522097G>A	ENST00000392621.1	-	2	275	c.271C>T	c.(271-273)Cgc>Tgc	p.R91C	CD300LB_ENST00000314401.3_Missense_Mutation_p.R91C	NM_174892.2	NP_777552	A8K4G0	CLM7_HUMAN	CD300 molecule-like family member b	54	Ig-like V-type.				cellular response to lipopolysaccharide (GO:0071222)|innate immune response (GO:0045087)|neutrophil mediated immunity (GO:0002446)|positive regulation of mast cell activation (GO:0033005)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(1)	21						GTATCCCAGCGCACCCCTCGG	0.547																																						ENST00000392621.1																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(1)	21						c.(271-273)Cgc>Tgc		CD300 molecule-like family member b							212	192	199					17																	72522097		2203	4300	6503	SO:0001583	missense	124599					integral to membrane|plasma membrane	receptor activity	g.chr17:72522097G>A	AF427618	CCDS11700.1, CCDS11700.2	17q25.1	2013-01-11	2006-03-29		ENSG00000178789	ENSG00000178789		"Immunoglobulin superfamily / V-set domain containing"	30811	protein-coding gene	gene with protein product	"triggering receptor expressed on myeloid cells 5"	610705	"CD300 antigen like family member B"			12975309	Standard	NM_174892		Approved	TREM5, CLM7	uc002jkx.2	A8K4G0	OTTHUMG00000067606	ENST00000392621.1:c.271C>T	17.37:g.72522097G>A	ENSP00000376397:p.Arg91Cys					CD300LB_ENST00000314401.3_Missense_Mutation_p.R91C	p.R91C	NM_174892.2	NP_777552.2	A8K4G0	CLM7_HUMAN			2	275	-			54			Ig-like V-type.		Q1EG73|Q8IX40|Q8N6D1	Missense_Mutation	SNP	ENST00000392621.1	37	c.271C>T	CCDS11700.1	.	.	.	.	.	.	.	.	.	.	G	6.028	0.373549	0.11409	.	.	ENSG00000178789	ENST00000392621;ENST00000314401	T	0.04275	3.66	5.05	-10.1	0.00402	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	5.990380	0.00166	N	0.000006	T	0.05547	0.0146	N	0.19112	0.55	0.09310	N	1	D;D	0.61697	0.979;0.99	P;P	0.59595	0.86;0.86	T	0.48055	-0.9068	10	0.37606	T	0.19	-16.4545	1.1869	0.01856	0.3489:0.1925:0.2973:0.1613	.	91;54	B4DQ71;A8K4G0	.;CLM7_HUMAN	C	54;91	ENSP00000317337:R91C	ENSP00000317337:R91C	R	-	1	0	CD300LB	70033692	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-6.856000	0.00051	-3.600000	0.00134	-0.457000	0.05445	CGC		0.547	CD300LB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000145082.2	NM_174892		94	142	0	0	0	1	0	94	142					A	72522097	G	A	72522097	3	1	227	1	0	0	0	0	1	0	0	0	2999	1087	38	1	457	1	CD300LB	17	72522097	Missense_Mutation	SNP	G	TCGA-HC-8213-01A-11D-A29Q-08	97	72522097	8673113	24	10473			1	25		2	2	98	G		7.8332e-05
TFDP3	51270	broad.mit.edu	37	chrX	132351392	132351392	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	actctagcccaaaagtcatgCccatccacatcagcacttct	12	9	4	16	0	4	0	2	0	2	0	5	0	5	0	3	0	3	1	3	0	3	2			TCGA-HC-8213-01A-11D-A29Q-08	TCGA-HC-8213-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f375497-1993-42be-aae3-0c55638053e7	942d7fa6-03b5-4661-9806-b535058fed63	g.chrX:132351392C>T	ENST00000310125.4	-	1	984	c.896G>A	c.(895-897)gGc>gAc	p.G299D		NM_016521.2	NP_057605.3	Q5H9I0	TFDP3_HUMAN	transcription factor Dp family, member 3	299	DCB2. {ECO:0000250}.|Involved in negatively regulating E2F activity.				cellular response to DNA damage stimulus (GO:0006974)|G1/S transition of mitotic cell cycle (GO:0000082)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(2)|kidney(4)|large_intestine(1)|lung(8)|ovary(1)|prostate(2)	19	Acute lymphoblastic leukemia(192;0.000127)					AAAAGTCATGCCCATCCACAT	0.478																																						ENST00000310125.4																			0				breast(1)|endometrium(2)|kidney(4)|large_intestine(1)|lung(8)|ovary(1)|prostate(2)	19						c.(895-897)gGc>gAc		transcription factor Dp family, member 3							80	81	80					X																	132351392		2201	4300	6501	SO:0001583	missense	51270					transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity	g.chrX:132351392C>T	AF219119	CCDS14636.2	Xq26.2	2009-03-25			ENSG00000183434	ENSG00000183434			24603	protein-coding gene	gene with protein product	"E2F-like protein", "cancer/testis antigen 30"	300772				12097419	Standard	NM_016521		Approved	HCA661, E2F-like, CT30	uc004exb.1	Q5H9I0	OTTHUMG00000022433	ENST00000310125.4:c.896G>A	X.37:g.132351392C>T	ENSP00000385461:p.Gly299Asp						p.G299D	NM_016521.2	NP_057605.3	Q5H9I0	TFDP3_HUMAN			1	984	-	Acute lymphoblastic leukemia(192;0.000127)		299			DCB2 (By similarity).|Involved in negatively regulating E2F activity.		Q6DK49|Q9NZ54	Missense_Mutation	SNP	ENST00000310125.4	37	c.896G>A	CCDS14636.2	.	.	.	.	.	.	.	.	.	.	C	14.06	2.422553	0.43020	.	.	ENSG00000183434	ENST00000310125	T	0.29142	1.58	0.217	0.217	0.15264	Transcription factor DP, C-terminal (1);	.	.	.	.	T	0.45617	0.1351	M	0.72353	2.195	0.80722	D	1	D	0.71674	0.998	D	0.65987	0.94	T	0.42865	-0.9426	9	0.87932	D	0	.	6.1626	0.20372	0.0:0.9996:0.0:4.0E-4	.	299	Q5H9I0	TFDP3_HUMAN	D	299	ENSP00000385461:G299D	ENSP00000385461:G299D	G	-	2	0	TFDP3	132179058	1.000000	0.71417	0.057000	0.19452	0.058000	0.15608	4.937000	0.63513	0.273000	0.22049	0.277000	0.19347	GGC		0.478	TFDP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058337.1	NM_016521		4	53	0	0	0	1	0	4	53					T	132351392	C	T	132351392	3	4	227	1	0	0	0	0	1	0	0	0	15796	739	26	3	325	3	TFDP3	23	132351392	Missense_Mutation	SNP	C	TCGA-HC-8213-01A-11D-A29Q-08		132351392	22919168	25	10474											
CHD5	26038	broad.mit.edu	37	chr1	6228311	6228311	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cacagggaaaaagtcatcgaAggcttcaagaccaccatctt	15	7	8	11	1	3	1	2	0	1	1	4	3	3	2	2	2	0	1	2	2	4	2			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr1:6228311A>T	ENST00000262450.3	-	2	205	c.106T>A	c.(106-108)Ttc>Atc	p.F36I	CHD5_ENST00000378021.1_5'UTR	NM_015557.2	NP_056372.1	O00258	WRB_HUMAN	chromodomain helicase DNA binding protein 5	0					tail-anchored membrane protein insertion into ER membrane (GO:0071816)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)				breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		AAGTCATCGAAGGCTTCAAGA	0.498																																						ENST00000262450.3																			0				breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16						c.(106-108)Ttc>Atc		chromodomain helicase DNA binding protein 5							151	154	153					1																	6228311		2203	4300	6503	SO:0001583	missense	26038				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding	g.chr1:6228311A>T	AF425231	CCDS57.1	1p36.3	2013-01-28			ENSG00000116254	ENSG00000116254		"Zinc fingers, PHD-type"	16816	protein-coding gene	gene with protein product		610771				11889561, 12592387	Standard	NM_015557		Approved		uc001amb.2	Q8TDI0	OTTHUMG00000000952	ENST00000262450.3:c.106T>A	1.37:g.6228311A>T	ENSP00000262450:p.Phe36Ile					CHD5_ENST00000378021.1_5'UTR	p.F36I	NM_015557.2	NP_056372.1	Q8TDI0	CHD5_HUMAN		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)	2	205	-	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)	36					A8KAP8|A8MQ44|D3DSH9|O60740	Missense_Mutation	SNP	ENST00000262450.3	37	c.106T>A	CCDS57.1	.	.	.	.	.	.	.	.	.	.	A	13.07	2.126780	0.37533	.	.	ENSG00000116254	ENST00000262450	D	0.90069	-2.61	5.09	3.95	0.45737	.	0.131002	0.29438	U	0.012150	T	0.81034	0.4739	L	0.40543	1.245	0.44110	D	0.996886	B	0.15930	0.015	B	0.12156	0.007	T	0.73173	-0.4066	10	0.22109	T	0.4	-23.4221	6.4279	0.21780	0.8459:0.0:0.1541:0.0	.	36	Q8TDI0	CHD5_HUMAN	I	36	ENSP00000262450:F36I	ENSP00000262450:F36I	F	-	1	0	CHD5	6150898	0.990000	0.36364	0.302000	0.25058	0.495000	0.33615	2.651000	0.46674	1.902000	0.55061	0.260000	0.18958	TTC		0.498	CHD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000002823.2	NM_015557		6	217	0	0	0	1	0	6	217					T	6228311	A	T	6228311	3	4	228	1	0	0	0	0	1	0	0	0	3328	72	3	5	5918	5	CHD5	1	6228311	Missense_Mutation	SNP	A	TCGA-HC-8216-01A-11D-A29Q-08		6228311	243022310	1	10475											
DMRTA2	63950	broad.mit.edu	37	chr1	50885066	50885066	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgcccagccctggcgccggCgcggcctcaccctcttcttt	2	8	10	21	5	3	0	1	0	2	0	3	0	3	0	6	3	1	0	6	3	0	2			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr1:50885066C>T	ENST00000404795.3	-	3	1292	c.900G>A	c.(898-900)gcG>gcA	p.A300A	DMRTA2_ENST00000418121.1_Silent_p.A300A	NM_032110.2	NP_115486.1	Q96SC8	DMTA2_HUMAN	DMRT-like family A2	300	Gly-rich.				cerebral cortex regionalization (GO:0021796)|dopaminergic neuron differentiation (GO:0071542)|neuron fate specification (GO:0048665)|positive regulation of neuroblast proliferation (GO:0002052)|skeletal muscle cell differentiation (GO:0035914)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|lung(4)|pancreas(1)	6						CTGGCGCCGGCGCGGCCTCAC	0.721																																					Colon(196;1651 2045 3292 36497 38236)|Esophageal Squamous(2;257 258 11567 27043 43804)	ENST00000404795.3																			0				endometrium(1)|lung(4)|pancreas(1)	6						c.(898-900)gcG>gcA		DMRT-like family A2							27	28	28					1																	50885066		1653	3737	5390	SO:0001819	synonymous_variant	63950				sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity	g.chr1:50885066C>T	AJ301580	CCDS44141.1	1p33	2008-08-04			ENSG00000142700	ENSG00000142700			13908	protein-coding gene	gene with protein product		614804				11863363	Standard	NM_032110		Approved		uc010onb.2	Q96SC8	OTTHUMG00000007884	ENST00000404795.3:c.900G>A	1.37:g.50885066C>T						DMRTA2_ENST00000418121.1_Silent_p.A300A	p.A300A	NM_032110.2	NP_115486.1	Q96SC8	DMTA2_HUMAN			3	1292	-			300			Gly-rich.		Q5TFQ3	Silent	SNP	ENST00000404795.3	37	c.900G>A	CCDS44141.1																																																																																				0.721	DMRTA2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351074.1	NM_032110		9	111	0	0	0	1	0	9	111					T	50885066	C	T	50885066	2	4	228	1	0	0	0	0	0	0	0	1	4589	755	27	1		1	DMRTA2	1	50885066	Silent	SNP	C	TCGA-HC-8216-01A-11D-A29Q-08	44656755	50885066	198365555	2	10476											
DAB1	1600	broad.mit.edu	37	chr1	57480801	57480801	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggcttgtcggtctgtggaCttgacctggtggagtcactc	4	13	15	9	1	2	1	1	1	1	0	4	3	2	3	1	5	0	1	1	5	0	2	rs372275203		TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr1:57480801C>T	ENST00000371231.1	-	13	1332	c.1298G>A	c.(1297-1299)aGt>aAt	p.S433N	DAB1_ENST00000439789.2_Missense_Mutation_p.S314N|DAB1_ENST00000371236.2_Missense_Mutation_p.S400N|DAB1_ENST00000414851.2_Missense_Mutation_p.S382N|DAB1_ENST00000485760.1_5'UTR|DAB1_ENST00000420954.2_Missense_Mutation_p.S398N|DAB1_ENST00000371234.4_Missense_Mutation_p.S400N			O75553	DAB1_HUMAN	Dab, reelin signal transducer, homolog 1 (Drosophila)	433					adult walking behavior (GO:0007628)|cell-cell adhesion involved in neuronal-glial interactions involved in cerebral cortex radial glia guided migration (GO:0021813)|cerebellum structural organization (GO:0021589)|dendrite development (GO:0016358)|Golgi localization (GO:0051645)|lateral motor column neuron migration (GO:0097477)|midgut development (GO:0007494)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell adhesion (GO:0007162)|negative regulation of JAK-STAT cascade (GO:0046426)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of protein kinase activity (GO:0045860)|radial glia guided migration of Purkinje cell (GO:0021942)|response to drug (GO:0042493)|small GTPase mediated signal transduction (GO:0007264)|ventral spinal cord development (GO:0021517)	apical part of cell (GO:0045177)|brush border (GO:0005903)|cytosol (GO:0005829)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|postsynaptic density (GO:0014069)				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(5)	64						GGTCTGTGGACTTGACCTGGT	0.592																																						ENST00000371236.2																			0				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(5)	64						c.(1198-1200)aGt>aAt		Dab, reelin signal transducer, homolog 1 (Drosophila)		C	ASN/SER	0,4406		0,0,2203	77	72	74		1199	5.5	1	1		74	1,8599	1.2+/-3.3	0,1,4299	no	missense	DAB1	NM_021080.3	46	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	400/556	57480801	1,13005	2203	4300	6503	SO:0001583	missense	1600				cell differentiation|nervous system development			g.chr1:57480801C>T	BC067445	CCDS607.1	1p32-p31	2013-10-03	2013-10-03		ENSG00000173406	ENSG00000173406			2661	protein-coding gene	gene with protein product		603448	"disabled (Drosophila) homolog 1", "disabled homolog 1 (Drosophila)", "Dab, reelin signal transducer, homolog 1 (Drosophila)", "Dab reelin signal transducer 1"			9790777	Standard	NM_021080		Approved		uc001cys.1	O75553	OTTHUMG00000008391	ENST00000371231.1:c.1298G>A	1.37:g.57480801C>T	ENSP00000360275:p.Ser433Asn					DAB1_ENST00000414851.2_Missense_Mutation_p.S382N|DAB1_ENST00000371234.4_Missense_Mutation_p.S400N|DAB1_ENST00000420954.2_Missense_Mutation_p.S398N|DAB1_ENST00000439789.2_Missense_Mutation_p.S314N|DAB1_ENST00000371231.1_Missense_Mutation_p.S433N|DAB1_ENST00000485760.1_5'UTR	p.S400N			O75553	DAB1_HUMAN			12	1462	-			433					A4FU90|B3KTG3|Q4LE59|Q5T6M6|Q5T6M9|Q5T835|Q5T836|Q5T837|Q6NWS9|Q6NWT0|Q6NWT1|Q9NYA8	Missense_Mutation	SNP	ENST00000371231.1	37	c.1199G>A		.	.	.	.	.	.	.	.	.	.	C	27.4	4.828558	0.90955	0.0	1.16E-4	ENSG00000173406	ENST00000371236;ENST00000371233;ENST00000371234;ENST00000420954;ENST00000414851;ENST00000439789;ENST00000371231	T;T;T;T;T;T	0.51325	0.75;0.75;0.71;0.71;1.74;0.74	5.54	5.54	0.83059	.	0.036132	0.85682	D	0.000000	T	0.66247	0.2770	L	0.59436	1.845	0.80722	D	1	D;D;D;D;D	0.89917	0.999;0.999;0.999;0.994;1.0	D;D;D;D;D	0.91635	0.997;0.998;0.997;0.91;0.999	T	0.58340	-0.7653	10	0.29301	T	0.29	-12.4709	19.6787	0.95950	0.0:1.0:0.0:0.0	.	382;433;400;314;398	O75553-4;O75553;O75553-6;O75553-3;O75553-5	.;DAB1_HUMAN;.;.;.	N	400;400;400;398;382;314;433	ENSP00000360280:S400N;ENSP00000360278:S400N;ENSP00000395296:S398N;ENSP00000387581:S382N;ENSP00000409328:S314N;ENSP00000360275:S433N	ENSP00000360275:S433N	S	-	2	0	DAB1	57253389	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.320000	0.79064	2.890000	0.99128	0.650000	0.86243	AGT		0.592	DAB1-010	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000027962.1	NM_021080		8	89	0	0	0	1	0	8	89					T	57480801	C	T	57480801	3	4	228	1	0	0	0	0	1	0	0	0	4217	565	20	3	480	3	DAB1	1	57480801	Missense_Mutation	SNP	C	TCGA-HC-8216-01A-11D-A29Q-08	6595735	57480801	191769820	3	10477											
DEPDC1	55635	broad.mit.edu	37	chr1	68944925	68944925	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atgatccattaagaaagaaaCtaatcttccagcaagaagct	18	9	6	8	0	1	4	0	1	1	3	3	4	3	4	2	0	3	2	2	0	6	3			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr1:68944925C>A	ENST00000456315.2	-	10	2128	c.2014G>T	c.(2014-2016)Gtt>Ttt	p.V672F	DEPDC1_ENST00000370966.5_Missense_Mutation_p.V388F|RP4-694A7.2_ENST00000425820.1_RNA	NM_001114120.1	NP_001107592.1	Q5TB30	DEP1A_HUMAN	DEP domain containing 1	672					intracellular signal transduction (GO:0035556)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	GTPase activator activity (GO:0005096)			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	13				OV - Ovarian serous cystadenocarcinoma(397;7.21e-36)		AAGAAAGAAACTAATCTTCCA	0.353																																						ENST00000456315.2																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	13						c.(2014-2016)Gtt>Ttt		DEP domain containing 1							89	83	85					1																	68944925		2203	4300	6503	SO:0001583	missense	55635				intracellular signal transduction|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	transcriptional repressor complex	GTPase activator activity|protein binding	g.chr1:68944925C>A	AK000361	CCDS644.1, CCDS44159.1	1p31.2	2008-08-19			ENSG00000024526	ENSG00000024526			22949	protein-coding gene	gene with protein product		612002					Standard	NM_001114120		Approved	DEP.8, FLJ20354, SDP35, DEPDC1A	uc001dem.4	Q5TB30	OTTHUMG00000009212	ENST00000456315.2:c.2014G>T	1.37:g.68944925C>A	ENSP00000412292:p.Val672Phe					RP4-694A7.2_ENST00000425820.1_RNA|DEPDC1_ENST00000370966.5_Missense_Mutation_p.V388F	p.V672F	NM_001114120.1	NP_001107592.1	Q5TB30	DEP1A_HUMAN		OV - Ovarian serous cystadenocarcinoma(397;7.21e-36)	10	2128	-			672					A8QXE0|A8QXE1|Q05DU3|Q5TB28|Q9H9I3|Q9NX21|Q9NXZ0	Missense_Mutation	SNP	ENST00000456315.2	37	c.2014G>T	CCDS44159.1	.	.	.	.	.	.	.	.	.	.	C	17.97	3.519360	0.64634	.	.	ENSG00000024526	ENST00000456315;ENST00000370966	T;T	0.46063	0.88;0.88	5.67	4.76	0.60689	Rho GTPase-activating protein domain (1);Rho GTPase activation protein (1);	0.253870	0.38778	N	0.001577	T	0.48750	0.1517	M	0.67953	2.075	0.31459	N	0.669823	D;D	0.76494	0.999;0.996	D;D	0.78314	0.991;0.948	T	0.53585	-0.8418	10	0.52906	T	0.07	0.0242	11.7425	0.51801	0.0:0.8088:0.1233:0.0679	.	672;388	Q5TB30;Q5TB30-2	DEP1A_HUMAN;.	F	672;388	ENSP00000412292:V672F;ENSP00000360005:V388F	ENSP00000360005:V388F	V	-	1	0	DEPDC1	68717513	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.059000	0.41384	1.395000	0.46643	0.585000	0.79938	GTT		0.353	DEPDC1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000025514.2	NM_017779		6	47	1	0	3.59834e-05	1	4.08902e-05	6	47					A	68944925	C	A	68944925	3	1	228	1	0	0	0	0	1	0	0	0	4439	565	20	5	433	5	DEPDC1	1	68944925	Missense_Mutation	SNP	C	TCGA-HC-8216-01A-11D-A29Q-08	11464124	68944925	180305696	4	10478											
LYSMD1	388695	broad.mit.edu	37	chr1	151137675	151137675	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	aggcttccatatgaacgagcCcggctcccttgaagcagtcc	9	8	10	14	2	0	2	0	2	0	0	3	3	3	2	4	2	3	3	4	2	3	3			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr1:151137675C>T	ENST00000368908.5	-	1	720	c.60G>A	c.(58-60)cgG>cgA	p.R20R	SCNM1_ENST00000368905.4_5'Flank|LYSMD1_ENST00000440902.2_Intron	NM_212551.4	NP_997716.1	Q96S90	LYSM1_HUMAN	LysM, putative peptidoglycan-binding, domain containing 1	20										endometrium(2)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			ATGAACGAGCCCGGCTCCCTT	0.622																																						ENST00000368908.5																			0				endometrium(2)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7						c.(58-60)cgG>cgA		LysM, putative peptidoglycan-binding, domain containing 1							52	54	53					1																	151137675		2203	4300	6503	SO:0001819	synonymous_variant	388695				cell wall macromolecule catabolic process			g.chr1:151137675C>T	BX647911	CCDS986.1, CCDS44218.1	1q21.2	2008-02-05			ENSG00000163155	ENSG00000163155			32070	protein-coding gene	gene with protein product						12477932	Standard	NM_212551		Approved	SB145, MGC35223, RP11-68I18.5	uc001ewy.3	Q96S90	OTTHUMG00000012260	ENST00000368908.5:c.60G>A	1.37:g.151137675C>T						LYSMD1_ENST00000440902.2_Intron	p.R20R	NM_212551.4	NP_997716.1	Q96S90	LYSM1_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)		1	720	-	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		20					B4DQA1|Q69YX9	Silent	SNP	ENST00000368908.5	37	c.60G>A	CCDS986.1																																																																																				0.622	LYSMD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034070.3	NM_212551		32	69	0	0	0	1	0	32	69					T	151137675	C	T	151137675	2	4	228	1	0	0	0	0	0	0	0	1	9124	610	22	3		3	LYSMD1	1	151137675	Silent	SNP	C	TCGA-HC-8216-01A-11D-A29Q-08	82192750	151137675	98112946	5	10479											
CD5L	922	broad.mit.edu	37	chr1	157804437	157804437	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gcctgtctggcacacggtatAccactggttctggtgcttca	6	12	11	12	1	3	0	1	0	2	0	3	0	3	0	2	4	2	4	2	4	2	4			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr1:157804437A>T	ENST00000368174.4	-	4	574	c.478T>A	c.(478-480)Tat>Aat	p.Y160N	CD5L_ENST00000484609.1_5'Flank	NM_005894.2	NP_005885.1	O43866	CD5L_HUMAN	CD5 molecule-like	160	SRCR 2. {ECO:0000255|PROSITE- ProRule:PRU00196}.				apoptotic process (GO:0006915)|cellular defense response (GO:0006968)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	scavenger receptor activity (GO:0005044)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	52	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			CACACGGTATACCACTGGTTC	0.617																																						ENST00000368174.4																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	52						c.(478-480)Tat>Aat		CD5 molecule-like							102	100	101					1																	157804437		2203	4300	6503	SO:0001583	missense	922				apoptosis|cellular defense response	extracellular space|membrane	scavenger receptor activity	g.chr1:157804437A>T	U82812	CCDS1171.1	1q21-q23	2008-02-05	2006-03-28		ENSG00000073754	ENSG00000073754			1690	protein-coding gene	gene with protein product		602592	"apoptosis inhibitor 6", "CD5 antigen-like (scavenger receptor cysteine rich family)"	API6		9045627	Standard	NM_005894		Approved	Spalpha	uc001frk.4	O43866	OTTHUMG00000022440	ENST00000368174.4:c.478T>A	1.37:g.157804437A>T	ENSP00000357156:p.Tyr160Asn						p.Y160N	NM_005894.2	NP_005885.1	O43866	CD5L_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.24)		4	574	-	all_hematologic(112;0.0378)		160			SRCR 2.		A8K7M5|Q6UX63	Missense_Mutation	SNP	ENST00000368174.4	37	c.478T>A	CCDS1171.1	.	.	.	.	.	.	.	.	.	.	A	14.08	2.427948	0.43122	.	.	ENSG00000073754	ENST00000368174	T	0.33654	1.4	5.13	0.478	0.16789	Speract/scavenger receptor (2);Speract/scavenger receptor-related (2);	0.816381	0.10814	N	0.631211	T	0.05960	0.0155	N	0.12569	0.235	0.30043	N	0.812441	B	0.21452	0.056	B	0.12837	0.008	T	0.25152	-1.0140	10	0.87932	D	0	.	0.4651	0.00523	0.1948:0.3236:0.1754:0.3062	.	160	O43866	CD5L_HUMAN	N	160	ENSP00000357156:Y160N	ENSP00000357156:Y160N	Y	-	1	0	CD5L	156071061	0.635000	0.27199	0.401000	0.26359	0.001000	0.01503	0.728000	0.26013	0.192000	0.20272	-0.339000	0.08088	TAT		0.617	CD5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058346.1	NM_005894		21	127	0	0	0	1	0	21	127					T	157804437	A	T	157804437	3	4	228	1	0	0	0	0	1	0	0	0	3027	391	14	5	577	5	CD5L	1	157804437	Missense_Mutation	SNP	A	TCGA-HC-8216-01A-11D-A29Q-08	6666762	157804437	91446184	6	10480											
SPTA1	6708	broad.mit.edu	37	chr1	158585163	158585163	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cacaatcttggttagttgacGcttcatcgcctggatctcct	7	14	8	12	2	3	1	1	1	2	0	5	2	3	2	2	2	0	3	2	2	2	4			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr1:158585163G>A	ENST00000368147.4	-	48	6811	c.6631C>T	c.(6631-6633)Cgt>Tgt	p.R2211C		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	2211					actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					GTTAGTTGACGCTTCATCGCC	0.478																																						ENST00000368148.3																			0				NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307						c.(6631-6633)Cgt>Tgt		spectrin, alpha, erythrocytic 1 (elliptocytosis 2)							169	163	165					1																	158585163		1934	4147	6081	SO:0001583	missense	6708				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	g.chr1:158585163G>A	M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"EF-hand domain containing"	11272	protein-coding gene	gene with protein product	"elliptocytosis 2"	182860	"spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.6631C>T	1.37:g.158585163G>A	ENSP00000357129:p.Arg2211Cys					SPTA1_ENST00000368147.3_Missense_Mutation_p.R2208C	p.R2211C	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN			48	6811	-	all_hematologic(112;0.0378)		2211					Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Missense_Mutation	SNP	ENST00000368147.4	37	c.6631C>T	CCDS41423.1	.	.	.	.	.	.	.	.	.	.	G	25.5	4.641338	0.87859	.	.	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.44482	0.92;0.92	5.65	5.65	0.86999	.	0.258862	0.20581	N	0.089523	T	0.43853	0.1266	L	0.54323	1.7	0.49582	D	0.999809	D	0.61697	0.99	P	0.56788	0.806	T	0.33803	-0.9854	10	0.56958	D	0.05	.	11.9262	0.52820	0.0:0.0:0.7403:0.2597	.	2211	P02549	SPTA1_HUMAN	C	2211;2208	ENSP00000357130:R2211C;ENSP00000357129:R2208C	ENSP00000357129:R2208C	R	-	1	0	SPTA1	156851787	1.000000	0.71417	0.974000	0.42286	0.987000	0.75469	6.258000	0.72487	2.941000	0.99782	0.655000	0.94253	CGT		0.478	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126		30	124	0	0	0	1	0	30	124					A	158585163	G	A	158585163	3	1	228	1	0	0	0	0	1	0	0	0	15115	1087	38	1	648	1	SPTA1	1	158585163	Missense_Mutation	SNP	G	TCGA-HC-8216-01A-11D-A29Q-08	780726	158585163	90665458	7	10481											
ITLN1	55600	broad.mit.edu	37	chr1	160850469	160850469	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggccgttgtcagtccaacaCtttccttctccatatttcac	7	14	6	14	1	3	0	2	0	1	0	6	0	5	0	4	1	1	1	4	1	2	5			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr1:160850469C>T	ENST00000326245.3	-	6	709	c.594G>A	c.(592-594)aaG>aaA	p.K198K	ITLN1_ENST00000487531.1_5'UTR	NM_017625.2	NP_060095.2	Q8WWA0	ITLN1_HUMAN	intelectin 1 (galactofuranose binding)	198	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				positive regulation of glucose import (GO:0046326)|positive regulation of protein phosphorylation (GO:0001934)|response to nematode (GO:0009624)	anchored component of membrane (GO:0031225)|brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|membrane raft (GO:0045121)|receptor complex (GO:0043235)	carbohydrate binding (GO:0030246)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	21	all_cancers(52;2.99e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			CAGTCCAACACTTTCCTTCTC	0.458																																						ENST00000326245.3																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	21						c.(592-594)aaG>aaA		intelectin 1 (galactofuranose binding)							157	154	155					1																	160850469		2203	4300	6503	SO:0001819	synonymous_variant	55600				positive regulation of glucose import|positive regulation of protein phosphorylation|response to nematode|signal transduction	anchored to membrane|brush border membrane|extracellular region|membrane raft	receptor binding|sugar binding	g.chr1:160850469C>T	AB036706	CCDS1211.1	1q21.3	2008-02-05			ENSG00000179914	ENSG00000179914			18259	protein-coding gene	gene with protein product		609873				11313366, 11181563	Standard	NM_017625		Approved	ITLN, FLJ20022, LFR, HL-1, hIntL	uc001fxc.3	Q8WWA0	OTTHUMG00000028604	ENST00000326245.3:c.594G>A	1.37:g.160850469C>T						ITLN1_ENST00000487531.1_5'UTR	p.K198K	NM_017625.2	NP_060095.2	Q8WWA0	ITLN1_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00737)		6	709	-	all_cancers(52;2.99e-17)|all_hematologic(112;0.093)		198			Fibrinogen C-terminal.		Q5IWS4|Q5VYI4|Q6YDJ3|Q9NP67	Silent	SNP	ENST00000326245.3	37	c.594G>A	CCDS1211.1																																																																																				0.458	ITLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071462.1	NM_017625		8	142	0	0	0	1	0	8	142					T	160850469	C	T	160850469	2	4	228	1	0	0	0	0	0	0	0	1	7910	564	20	3		3	ITLN1	1	160850469	Silent	SNP	C	TCGA-HC-8216-01A-11D-A29Q-08	2265306	160850469	88400152	8	10482											
SELP	6403	broad.mit.edu	37	chr1	169582313	169582313	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagggtggctgcagttcatgAgcacgtgttgagggagctca	8	9	17	7	1	2	2	2	2	0	0	2	4	2	3	0	3	3	6	0	3	0	2			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr1:169582313A>G	ENST00000263686.6	-	5	666	c.629T>C	c.(628-630)cTc>cCc	p.L210P	SELP_ENST00000367786.2_Missense_Mutation_p.L210P|SELP_ENST00000367793.2_Missense_Mutation_p.L210P|SELP_ENST00000367794.2_Missense_Mutation_p.L210P|SELP_ENST00000367788.2_Missense_Mutation_p.L210P|SELP_ENST00000367792.2_Missense_Mutation_p.L210P|SELP_ENST00000367791.2_Missense_Mutation_p.L210P|SELP_ENST00000458599.2_Missense_Mutation_p.L210P	NM_003005.3	NP_002996.2	P16109	LYAM3_HUMAN	selectin P (granule membrane protein 140kDa, antigen CD62)	210	Sushi 1. {ECO:0000255|PROSITE- ProRule:PRU00302}.				blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|defense response to Gram-negative bacterium (GO:0050829)|heterophilic cell-cell adhesion (GO:0007157)|inflammatory response (GO:0006954)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte tethering or rolling (GO:0050901)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of platelet activation (GO:0010572)|regulation of integrin activation (GO:0033623)|response to lipopolysaccharide (GO:0032496)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|platelet alpha granule membrane (GO:0031092)|platelet dense granule membrane (GO:0031088)	fucose binding (GO:0042806)|glycosphingolipid binding (GO:0043208)|heparin binding (GO:0008201)|lipopolysaccharide binding (GO:0001530)|oligosaccharide binding (GO:0070492)|sialic acid binding (GO:0033691)			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(32)|ovary(4)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(923;0.208)				Dalteparin(DB06779)|Heparin(DB01109)|Nadroparin(DB08813)	GCAGTTCATGAGCACGTGTTG	0.463																																						ENST00000263686.6																			0				breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(32)|ovary(4)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						c.(628-630)cTc>cCc		selectin P (granule membrane protein 140kDa, antigen CD62)	Clopidogrel(DB00758)|Heparin(DB01109)|Tirofiban(DB00775)						87	78	81					1																	169582313		2203	4300	6503	SO:0001583	missense	6403				platelet activation|platelet degranulation|positive regulation of platelet activation	external side of plasma membrane|extracellular space|integral to plasma membrane|membrane fraction|platelet alpha granule membrane|platelet dense granule membrane|soluble fraction	fucose binding|glycosphingolipid binding|heparin binding|lipopolysaccharide binding|oligosaccharide binding|sialic acid binding	g.chr1:169582313A>G	BC068533	CCDS1282.1	1q22-q25	2008-02-05	2002-08-29		ENSG00000174175	ENSG00000174175		"CD molecules"	10721	protein-coding gene	gene with protein product		173610	"selectin P (granule membrane protein 140kD, antigen CD62)"	GRMP		1375831	Standard	NM_003005		Approved	CD62, PSEL, PADGEM, GMP140, CD62P	uc001ggi.4	P16109	OTTHUMG00000034685	ENST00000263686.6:c.629T>C	1.37:g.169582313A>G	ENSP00000263686:p.Leu210Pro					SELP_ENST00000367792.2_Missense_Mutation_p.L210P|SELP_ENST00000367794.2_Missense_Mutation_p.L210P|SELP_ENST00000367788.2_Missense_Mutation_p.L210P|SELP_ENST00000367793.2_Missense_Mutation_p.L210P|SELP_ENST00000458599.2_Missense_Mutation_p.L210P|SELP_ENST00000367786.2_Missense_Mutation_p.L210P|SELP_ENST00000367791.2_Missense_Mutation_p.L210P	p.L210P	NM_003005.3	NP_002996.2	P16109	LYAM3_HUMAN			5	666	-	all_hematologic(923;0.208)		210			Sushi 1.		Q5R344|Q8IVD1	Missense_Mutation	SNP	ENST00000263686.6	37	c.629T>C	CCDS1282.1	.	.	.	.	.	.	.	.	.	.	A	11.09	1.537149	0.27475	.	.	ENSG00000174175	ENST00000367795;ENST00000367790;ENST00000426706;ENST00000367789;ENST00000263686;ENST00000544572;ENST00000367793;ENST00000367794;ENST00000367792;ENST00000367791;ENST00000367788;ENST00000367786;ENST00000458599	T;T;T;T;T;T;T	0.51071	0.72;0.72;0.72;0.72;0.72;0.72;0.72	5.98	-0.911	0.10507	Complement control module (2);Sushi/SCR/CCP (2);	0.866963	0.09952	N	0.734496	T	0.35740	0.0942	M	0.77313	2.365	0.19775	N	0.99996	P;B;P	0.41265	0.744;0.002;0.699	P;B;P	0.52514	0.701;0.014;0.506	T	0.36720	-0.9736	10	0.35671	T	0.21	-3.0497	0.6137	0.00766	0.4377:0.1901:0.1434:0.2287	.	210;210;210	Q6NUL9;P16109;G3V1U2	.;LYAM3_HUMAN;.	P	210;210;209;210;210;210;210;210;210;210;210;210;195	ENSP00000263686:L210P;ENSP00000356767:L210P;ENSP00000356768:L210P;ENSP00000356766:L210P;ENSP00000356765:L210P;ENSP00000356762:L210P;ENSP00000356760:L210P	ENSP00000263686:L210P	L	-	2	0	SELP	167848937	0.000000	0.05858	0.003000	0.11579	0.123000	0.20343	-0.264000	0.08658	0.161000	0.19458	0.533000	0.62120	CTC		0.463	SELP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000083916.4	NM_003005		14	57	0	0	0	1	0	14	57					G	169582313	A	G	169582313	3	3	228	1	0	0	0	0	1	0	0	0	14019	304	11	4	1911	4	SELP	1	169582313	Missense_Mutation	SNP	A	TCGA-HC-8216-01A-11D-A29Q-08	8731844	169582313	79668308	9	10483											
SEC16B	89866	broad.mit.edu	37	chr1	177927436	177927436	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccacagggggctgccgcttgTacttctccagcttcttgcag	5	11	11	14	1	2	0	0	0	2	0	3	0	2	0	3	2	4	5	3	2	1	5			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr1:177927436T>A	ENST00000308284.6	-	10	1285	c.1196A>T	c.(1195-1197)tAc>tTc	p.Y399F	RP4-798P15.3_ENST00000354921.3_RNA|SEC16B_ENST00000464631.2_Missense_Mutation_p.Y400F	NM_033127.2	NP_149118.2	Q96JE7	SC16B_HUMAN	SEC16 homolog B (S. cerevisiae)	399					COPII vesicle coating (GO:0048208)|endoplasmic reticulum organization (GO:0007029)|peroxisome fission (GO:0016559)|peroxisome organization (GO:0007031)|positive regulation of gene expression (GO:0010628)|positive regulation of protein exit from endoplasmic reticulum (GO:0070863)|protein localization to endoplasmic reticulum (GO:0070972)|protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|Golgi membrane (GO:0000139)|intracellular membrane-bounded organelle (GO:0043231)				central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)|stomach(1)	35						CTGCCGCTTGTACTTCTCCAG	0.572																																						ENST00000308284.6																			0				central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)|stomach(1)	35						c.(1195-1197)tAc>tTc		SEC16 homolog B (S. cerevisiae)							46	50	49					1																	177927436		1995	4164	6159	SO:0001583	missense	89866				protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane		g.chr1:177927436T>A	AK090411	CCDS44281.1	1q25.2	2012-10-08	2007-06-20	2007-06-20	ENSG00000120341	ENSG00000120341			30301	protein-coding gene	gene with protein product	"regucalcin gene promotor region related protein"	612855	"leucine zipper transcription regulator 2"	LZTR2		11572484, 11605020	Standard	NM_033127		Approved	RGPR, PGPR-p117	uc001gli.1	Q96JE7	OTTHUMG00000167206	ENST00000308284.6:c.1196A>T	1.37:g.177927436T>A	ENSP00000308339:p.Tyr399Phe					SEC16B_ENST00000464631.1_Missense_Mutation_p.Y400F|RP4-798P15.3_ENST00000528461.1_3'UTR|RP4-798P15.3_ENST00000354921.2_5'UTR	p.Y399F	NM_033127.2	NP_149118.2	Q96JE7	SC16B_HUMAN			10	1285	-			399					A3EYF1|Q5HYF6|Q8N7D6|Q96GX6	Missense_Mutation	SNP	ENST00000308284.6	37	c.1196A>T	CCDS44281.1	.	.	.	.	.	.	.	.	.	.	T	14.73	2.621209	0.46736	.	.	ENSG00000120341	ENST00000308284;ENST00000239472;ENST00000464631	T;T	0.44482	2.5;0.92	4.96	4.96	0.65561	.	0.000000	0.64402	D	0.000017	T	0.46889	0.1416	L	0.27053	0.805	0.41008	D	0.984989	D;D;D;D	0.76494	0.996;0.999;0.979;0.996	D;D;P;D	0.70935	0.934;0.971;0.74;0.934	T	0.31752	-0.9932	10	0.10636	T	0.68	-14.2652	14.6024	0.68450	0.0:0.0:0.0:1.0	.	400;400;399;96	E9PK14;B1AM08;Q96JE7;Q96PW0	.;.;SC16B_HUMAN;.	F	399;114;400	ENSP00000308339:Y399F;ENSP00000431727:Y400F	ENSP00000239472:Y114F	Y	-	2	0	AL359075.1	176194059	1.000000	0.71417	1.000000	0.80357	0.871000	0.50021	2.364000	0.44187	1.993000	0.58246	0.523000	0.50628	TAC		0.572	SEC16B-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084773.16	NM_033127		9	33	0	0	0	1	0	9	33					A	177927436	T	A	177927436	3	1	228	1	0	0	0	0	1	0	0	0	13987	1638	57	5	2054	5	SEC16B	1	177927436	Missense_Mutation	SNP	T	TCGA-HC-8216-01A-11D-A29Q-08	8345123	177927436	71323185	10	10484											
HSD11B1	3290	broad.mit.edu	37	chr1	209879155	209879155	+	Splice_Site	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cttccttttggggttccccaGagatgctccaaggaaagaaa	11	10	10	10	0	0	2	0	0	0	2	3	4	3	3	4	3	1	2	4	3	3	4			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr1:209879155G>C	ENST00000367028.2	+	3	257		c.e3-1		HSD11B1_ENST00000367027.3_Splice_Site|RP1-28O10.1_ENST00000441672.1_RNA|HSD11B1_ENST00000261465.1_Splice_Site	NM_001206741.1	NP_001193670.1	P28845	DHI1_HUMAN	hydroxysteroid (11-beta) dehydrogenase 1						glucocorticoid biosynthetic process (GO:0006704)|lung development (GO:0030324)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	11-beta-hydroxysteroid dehydrogenase (NADP+) activity (GO:0070524)|11-beta-hydroxysteroid dehydrogenase [NAD(P)] activity (GO:0003845)			breast(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(9)	16				OV - Ovarian serous cystadenocarcinoma(81;1.04e-55)|Epithelial(68;1.57e-52)|all cancers(67;1.83e-46)|Colorectal(1306;0.115)	Prednisone(DB00635)	GGGTTCCCCAGAGATGCTCCA	0.488																																						ENST00000367028.2																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(9)	16						c.e3-1		hydroxysteroid (11-beta) dehydrogenase 1	NADH(DB00157)						92	94	94					1																	209879155		2203	4300	6503	SO:0001630	splice_region_variant	3290				glucocorticoid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	11-beta-hydroxysteroid dehydrogenase|11-beta-hydroxysteroid dehydrogenase (NADP+) activity|binding	g.chr1:209879155G>C	BC012593	CCDS1489.1	1q32-q41	2011-09-20			ENSG00000117594	ENSG00000117594	1.1.1.146	"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3"	5208	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 26C, member 1"	600713		HSD11B, HSD11		1885595, 19027726	Standard	NM_005525		Approved	SDR26C1	uc001hhk.3	P28845	OTTHUMG00000036481	ENST00000367028.2:c.89-1G>C	1.37:g.209879155G>C						RP1-28O10.1_ENST00000441672.1_RNA|HSD11B1_ENST00000261465.1_Splice_Site|HSD11B1_ENST00000367027.3_Splice_Site		NM_001206741.1	NP_001193670.1	P28845	DHI1_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;1.04e-55)|Epithelial(68;1.57e-52)|all cancers(67;1.83e-46)|Colorectal(1306;0.115)	3	257	+								B2R9Z1|D3DT89	Splice_Site	SNP	ENST00000367028.2	37		CCDS1489.1	.	.	.	.	.	.	.	.	.	.	G	17.42	3.385637	0.61956	.	.	ENSG00000117594	ENST00000367028;ENST00000261465;ENST00000367027	.	.	.	4.04	4.04	0.47022	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.0829	0.86603	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	HSD11B1	207945778	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	7.147000	0.77382	2.199000	0.70637	0.442000	0.29010	.		0.488	HSD11B1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088743.2	NM_005525	Intron	6	81	0	0	0	1	0	6	81					C	209879155	G	C	209879155	5	2	228	1	0	0	0	0	0	0	1	0	7375	956	33	5	94	5	HSD11B1	1	209879155	Splice_Site	SNP	G	TCGA-HC-8216-01A-11D-A29Q-08	31951719	209879155	39371466	11	10485											
OR2T4	127074	broad.mit.edu	37	chr1	248525215	248525215	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tacatttctgtcactgtgccCaagatgctcctggaccaggt	8	12	9	12	0	2	1	1	0	1	1	3	2	3	2	3	2	3	1	3	2	2	2			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr1:248525215C>T	ENST00000366475.1	+	1	333	c.333C>T	c.(331-333)ccC>ccT	p.P111P		NM_001004696.1	NP_001004696.1	Q8NH00	OR2T4_HUMAN	olfactory receptor, family 2, subfamily T, member 4	111						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(2)|lung(47)	56	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TCACTGTGCCCAAGATGCTCC	0.488																																						ENST00000366475.1																			0				central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(2)|lung(47)	56						c.(331-333)ccC>ccT		olfactory receptor, family 2, subfamily T, member 4							265	199	221					1																	248525215		2203	4300	6503	SO:0001819	synonymous_variant	127074				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248525215C>T	BK004464	CCDS31113.1	1q44	2012-08-09			ENSG00000196944	ENSG00000196944		"GPCR / Class A : Olfactory receptors"	15016	protein-coding gene	gene with protein product							Standard	NM_001004696		Approved	OR2T4Q	uc001ieh.1	Q8NH00	OTTHUMG00000040453	ENST00000366475.1:c.333C>T	1.37:g.248525215C>T							p.P111P	NM_001004696.1	NP_001004696.1	Q8NH00	OR2T4_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	333	+	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		111					Q6IEZ8	Silent	SNP	ENST00000366475.1	37	c.333C>T	CCDS31113.1																																																																																				0.488	OR2T4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097349.2	NM_001004696		18	262	0	0	0	1	0	18	262					T	248525215	C	T	248525215	2	4	228	1	0	0	0	0	0	0	0	1	11027	581	21	3		3	OR2T4	1	248525215	Silent	SNP	C	TCGA-HC-8216-01A-11D-A29Q-08	38646060	248525215	725406	12	10486											
COLEC11	78989	broad.mit.edu	37	chr2	3691606	3691606	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagcccaacaatgcctacgaCgaggaggactgcgtggagat	12	5	14	10	3	0	1	0	0	0	1	0	7	0	3	2	3	5	0	2	3	3	1	rs565076370	byFrequency	TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr2:3691606C>T	ENST00000349077.4	+	7	817	c.714C>T	c.(712-714)gaC>gaT	p.D238D	COLEC11_ENST00000402794.1_Silent_p.D188D|COLEC11_ENST00000403096.3_Silent_p.D212D|COLEC11_ENST00000382062.2_Silent_p.D214D|COLEC11_ENST00000487365.1_3'UTR|COLEC11_ENST00000402922.1_Silent_p.D188D|COLEC11_ENST00000418971.2_Silent_p.D252D|COLEC11_ENST00000404205.1_Silent_p.D164D|COLEC11_ENST00000236693.7_Silent_p.D235D	NM_024027.4	NP_076932.1	Q9BWP8	COL11_HUMAN	collectin sub-family member 11	238	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				developmental process (GO:0032502)|multicellular organismal development (GO:0007275)	collagen trimer (GO:0005581)|extracellular region (GO:0005576)	mannose binding (GO:0005537)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|soft_tissue(1)	22	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)			OV - Ovarian serous cystadenocarcinoma(76;0.127)		ATGCCTACGACGAGGAGGACT	0.592													C|||	2	0.000399361	0	0	5008	,	,		18865	0		0	False		,,,				2504	0.002					ENST00000403096.3																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|soft_tissue(1)	22						c.(634-636)gaC>gaT		collectin sub-family member 11							73	77	76					2																	3691606		2203	4300	6503	SO:0001819	synonymous_variant	78989					collagen	mannose binding	g.chr2:3691606C>T	BC000078	CCDS1649.1, CCDS1650.1, CCDS58689.1, CCDS58690.1, CCDS58691.1, CCDS58692.1, CCDS58693.1, CCDS58694.1	2p25.3	2014-09-17			ENSG00000118004	ENSG00000118004		"Collectins"	17213	protein-coding gene	gene with protein product	"Collectin K1"	612502					Standard	NM_024027		Approved	MGC3279, CL-K1	uc031rnn.1	Q9BWP8	OTTHUMG00000090304	ENST00000349077.4:c.714C>T	2.37:g.3691606C>T						COLEC11_ENST00000402794.1_Silent_p.D188D|COLEC11_ENST00000402922.1_Silent_p.D188D|COLEC11_ENST00000382062.2_Silent_p.D214D|COLEC11_ENST00000349077.4_Silent_p.D238D|COLEC11_ENST00000236693.7_Silent_p.D235D|COLEC11_ENST00000418971.2_Silent_p.D252D|COLEC11_ENST00000487365.1_3'UTR|COLEC11_ENST00000404205.1_Silent_p.D164D	p.D212D	NM_001255986.1	NP_001242915.1	Q9BWP8	COL11_HUMAN		OV - Ovarian serous cystadenocarcinoma(76;0.127)	6	1127	+	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)		238			C-type lectin.		A1IGE4|A1IGE5|A1IGE6|A7VJJ2|A7VJJ3|A7VJJ4|A7VJJ5|B2R9M5|B4E1G0|J3KQY9|Q5CZ85|Q7Z6N1	Silent	SNP	ENST00000349077.4	37	c.636C>T	CCDS1649.1																																																																																				0.592	COLEC11-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206666.1	NM_024027		7	107	0	0	0	1	0	7	107					T	3691606	C	T	3691606	2	4	228	1	0	0	0	0	0	0	0	1	3711	535	19	1		1	COLEC11	2	3691606	Silent	SNP	C	TCGA-HC-8216-01A-11D-A29Q-08		3691606	239507767	13	10487											
RAD51AP2	729475	broad.mit.edu	37	chr2	17696504	17696504	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacaactctcattaggaactTcctgttctccattattgggt	10	15	6	10	0	2	0	1	0	2	0	5	1	3	1	2	2	3	1	2	2	5	5			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr2:17696504T>C	ENST00000399080.2	-	1	3202	c.3179A>G	c.(3178-3180)gAa>gGa	p.E1060G		NM_001099218.2	NP_001092688.1	Q09MP3	R51A2_HUMAN	RAD51 associated protein 2	1060										endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(10)|liver(1)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					ATTAGGAACTTCCTGTTCTCC	0.348																																						ENST00000399080.2																			0				endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(10)|liver(1)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						c.(3178-3180)gAa>gGa		RAD51 associated protein 2							101	92	95					2																	17696504		1826	4078	5904	SO:0001583	missense	729475							g.chr2:17696504T>C	AK310498	CCDS42656.1	2p24.2	2009-01-13			ENSG00000214842	ENSG00000214842			34417	protein-coding gene	gene with protein product						16990250	Standard	NM_001099218		Approved	FLJ17540	uc002rcl.1	Q09MP3	OTTHUMG00000151761	ENST00000399080.2:c.3179A>G	2.37:g.17696504T>C	ENSP00000382030:p.Glu1060Gly						p.E1060G	NM_001099218.2	NP_001092688.1	Q09MP3	R51A2_HUMAN			1	3202	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)		1060						Missense_Mutation	SNP	ENST00000399080.2	37	c.3179A>G	CCDS42656.1	.	.	.	.	.	.	.	.	.	.	T	17.90	3.502203	0.64298	.	.	ENSG00000214842	ENST00000399080	T	0.27557	1.66	5.3	1.46	0.22682	.	.	.	.	.	T	0.20455	0.0492	L	0.27053	0.805	0.23376	N	0.997801	B	0.32382	0.368	B	0.32677	0.15	T	0.16928	-1.0386	9	0.52906	T	0.07	-0.1928	7.331	0.26582	0.0:0.0733:0.2843:0.6424	.	1060	Q09MP3	R51A2_HUMAN	G	1060	ENSP00000382030:E1060G	ENSP00000382030:E1060G	E	-	2	0	RAD51AP2	17559985	1.000000	0.71417	0.996000	0.52242	0.954000	0.61252	2.237000	0.43061	0.071000	0.16664	-0.250000	0.11733	GAA		0.348	RAD51AP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323801.3	NM_001099218		3	16	0	0	0	1	0	3	16					C	17696504	T	C	17696504	3	2	228	1	0	0	0	0	1	0	0	0	12987	1783	62	4	312	4	RAD51AP2	2	17696504	Missense_Mutation	SNP	T	TCGA-HC-8216-01A-11D-A29Q-08	14004898	17696504	225502869	14	10488											
APOB	338	broad.mit.edu	37	chr2	21258471	21258471	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctacttgtaggagaaaggcAggaagaggtgttgctccttg	10	10	14	7	0	0	2	0	0	0	2	1	4	1	3	2	4	2	4	2	4	4	5			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr2:21258471A>G	ENST00000233242.1	-	7	930	c.803T>C	c.(802-804)cTg>cCg	p.L268P	APOB_ENST00000399256.4_Missense_Mutation_p.L268P	NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	268	Heparin-binding.|Vitellogenin. {ECO:0000255|PROSITE- ProRule:PRU00557}.				artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGAGAAAGGCAGGAAGAGGTG	0.493																																						ENST00000233242.1																			0				NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305						c.(802-804)cTg>cCg		apolipoprotein B	Atorvastatin(DB01076)						164	131	142					2																	21258471		2203	4300	6503	SO:0001583	missense	338				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	g.chr2:21258471A>G	M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"Apolipoproteins"	603	protein-coding gene	gene with protein product		107730	"apolipoprotein B (including Ag(x) antigen)"				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.803T>C	2.37:g.21258471A>G	ENSP00000233242:p.Leu268Pro					APOB_ENST00000399256.4_Missense_Mutation_p.L268P	p.L268P	NM_000384.2	NP_000375.2	P04114	APOB_HUMAN			7	930	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		268			Heparin-binding.|Vitellogenin.		O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Missense_Mutation	SNP	ENST00000233242.1	37	c.803T>C	CCDS1703.1	.	.	.	.	.	.	.	.	.	.	A	19.77	3.888850	0.72524	.	.	ENSG00000084674	ENST00000233242;ENST00000535079;ENST00000399256	T;T	0.39787	1.06;1.06	5.69	4.5	0.54988	Lipid transport protein, beta-sheet shell (1);Lipid transport protein, N-terminal (3);Vitellinogen, beta-sheet N-terminal (1);	0.153165	0.30374	N	0.009776	T	0.64249	0.2581	M	0.78637	2.42	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	T	0.68191	-0.5474	10	0.72032	D	0.01	.	13.0729	0.59072	0.8658:0.1342:0.0:0.0	.	268	P04114	APOB_HUMAN	P	268	ENSP00000233242:L268P;ENSP00000382200:L268P	ENSP00000233242:L268P	L	-	2	0	APOB	21111976	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	6.933000	0.75874	1.062000	0.40625	0.529000	0.55759	CTG		0.493	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1			4	60	0	0	0	1	0	4	60					G	21258471	A	G	21258471	3	3	228	1	0	0	0	0	1	0	0	0	785	188	7	4	12980	4	APOB	2	21258471	Missense_Mutation	SNP	A	TCGA-HC-8216-01A-11D-A29Q-08	3561967	21258471	221940902	15	10489											
SRBD1	55133	broad.mit.edu	37	chr2	45773897	45773897	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	acaacatccagtggtgcaaaAtaattcttcattatcaggtc	14	12	6	9	0	3	0	2	0	1	0	5	0	4	0	1	2	2	1	1	2	5	4			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr2:45773897A>G	ENST00000263736.4	-	14	1910	c.1848T>C	c.(1846-1848)taT>taC	p.Y616Y	SRBD1_ENST00000535761.1_Silent_p.Y135Y	NM_018079.4	NP_060549.4	Q8N5C6	SRBD1_HUMAN	S1 RNA binding domain 1	616					nucleobase-containing compound metabolic process (GO:0006139)		hydrolase activity, acting on ester bonds (GO:0016788)|RNA binding (GO:0003723)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(13)|large_intestine(8)|lung(15)|skin(2)|stomach(1)|urinary_tract(1)	49		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	LUSC - Lung squamous cell carcinoma(58;0.0917)|Lung(47;0.154)			GTGGTGCAAAATAATTCTTCA	0.403																																						ENST00000263736.4																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(13)|large_intestine(8)|lung(15)|skin(2)|stomach(1)|urinary_tract(1)	49						c.(1846-1848)taT>taC		S1 RNA binding domain 1							157	144	148					2																	45773897		2203	4300	6503	SO:0001819	synonymous_variant	55133				nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		hydrolase activity, acting on ester bonds|RNA binding	g.chr2:45773897A>G	AK056536	CCDS1823.1	2p21	2008-02-05			ENSG00000068784	ENSG00000068784			25521	protein-coding gene	gene with protein product						12477932	Standard	NM_018079		Approved	FLJ10379	uc002rus.3	Q8N5C6	OTTHUMG00000128814	ENST00000263736.4:c.1848T>C	2.37:g.45773897A>G						SRBD1_ENST00000535761.1_Silent_p.Y135Y	p.Y616Y	NM_018079.4	NP_060549.4	Q8N5C6	SRBD1_HUMAN	LUSC - Lung squamous cell carcinoma(58;0.0917)|Lung(47;0.154)		14	1910	-		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	616					Q53T56|Q96TA4|Q9NW11	Silent	SNP	ENST00000263736.4	37	c.1848T>C	CCDS1823.1																																																																																				0.403	SRBD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250747.3	NM_018079		3	65	0	0	0	1	0	3	65					G	45773897	A	G	45773897	2	3	228	1	0	0	0	0	0	0	0	1	15132	108	4	4		4	SRBD1	2	45773897	Silent	SNP	A	TCGA-HC-8216-01A-11D-A29Q-08	24515426	45773897	197425476	16	10490											
NAGK	55577	broad.mit.edu	37	chr2	71300700	71300700	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	catgatatcggctacgtcaaAcaggccatgttccactattt	11	12	7	11	2	1	1	1	1	0	0	3	1	2	1	2	2	2	2	2	2	4	5			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr2:71300700A>T	ENST00000244204.6	+	6	617	c.555A>T	c.(553-555)aaA>aaT	p.K185N	NAGK_ENST00000443938.2_Missense_Mutation_p.K185N|NAGK_ENST00000418807.3_Missense_Mutation_p.K134N|NAGK_ENST00000443872.2_Missense_Mutation_p.K37N|NAGK_ENST00000455662.2_Missense_Mutation_p.K231N			Q9UJ70	NAGK_HUMAN	N-acetylglucosamine kinase	185					carbohydrate phosphorylation (GO:0046835)|N-acetylglucosamine metabolic process (GO:0006044)|N-acetylmannosamine metabolic process (GO:0006051)|N-acetylneuraminate catabolic process (GO:0019262)	extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|N-acetylglucosamine kinase activity (GO:0045127)			breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(7)|urinary_tract(1)	18					N-Acetyl-D-glucosamine(DB00141)	GCTACGTCAAACAGGCCATGT	0.522																																						ENST00000418807.3																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(7)|urinary_tract(1)	18						c.(400-402)aaA>aaT		N-acetylglucosamine kinase	N-Acetyl-D-glucosamine(DB00141)						240	222	228					2																	71300700		2203	4300	6503	SO:0001583	missense	55577				N-acetylglucosamine metabolic process|N-acetylmannosamine metabolic process		ATP binding|N-acetylglucosamine kinase activity|protein binding	g.chr2:71300700A>T	AJ242910	CCDS33220.1, CCDS33220.2	2p24.3-p24.1	2008-02-05			ENSG00000124357	ENSG00000124357	2.7.1.59		17174	protein-coding gene	gene with protein product		606828				10824116	Standard	NM_017567		Approved	GNK	uc002shp.4	Q9UJ70	OTTHUMG00000153239	ENST00000244204.6:c.555A>T	2.37:g.71300700A>T	ENSP00000244204:p.Lys185Asn					NAGK_ENST00000455662.2_Missense_Mutation_p.K231N|NAGK_ENST00000244204.5_Missense_Mutation_p.K185N	p.K134N			Q9UJ70	NAGK_HUMAN			5	566	+			185					B4DLZ5|Q53HD5|Q6IA84|Q9BS29|Q9BVP0|Q9NV37	Missense_Mutation	SNP	ENST00000244204.6	37	c.402A>T		.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	A|A|A	20.7|20.7|20.7	4.039176|4.039176|4.039176	0.75617|0.75617|0.75617	.|.|.	.|.|.	ENSG00000124357|ENSG00000124357|ENSG00000124357	ENST00000244204;ENST00000455662;ENST00000531934;ENST00000418807;ENST00000529236|ENST00000443938|ENST00000524537	T;T;T|.|.	0.48201|.|.	1.38;1.34;0.82|.|.	5.99|5.99|5.99	-4.01|-4.01|-4.01	0.04045|0.04045|0.04045	ATPase, BadF/BadG/BcrA/BcrD type (1);|.|.	0.151937|.|.	0.56097|.|.	D|.|.	0.000024|.|.	T|T|T	0.69160|0.69160|0.69160	0.3080|0.3080|0.3080	M|M|M	0.73217|0.73217|0.73217	2.22|2.22|2.22	0.46185|0.46185|0.46185	D|D|D	0.998917|0.998917|0.998917	D|.|.	0.69078|.|.	0.997|.|.	P|.|.	0.58210|.|.	0.835|.|.	T|T|T	0.71374|0.71374|0.71374	-0.4612|-0.4612|-0.4612	10|5|5	0.24483|.|.	T|.|.	0.36|.|.	-24.7902|-24.7902|-24.7902	15.716|15.716|15.716	0.77670|0.77670|0.77670	0.2684:0.0:0.7316:0.0|0.2684:0.0:0.7316:0.0|0.2684:0.0:0.7316:0.0	.|.|.	185|.|.	Q9UJ70|.|.	NAGK_HUMAN|.|.	N|I|S	185;231;37;134;79|207|12	ENSP00000244204:K185N;ENSP00000389087:K231N;ENSP00000396070:K134N|.|.	ENSP00000244204:K185N|.|.	K|N|T	+|+|+	3|2|1	2|0|0	NAGK|NAGK|NAGK	71154208|71154208|71154208	0.998000|0.998000|0.998000	0.40836|0.40836|0.40836	0.969000|0.969000|0.969000	0.41365|0.41365|0.41365	0.826000|0.826000|0.826000	0.46750|0.46750|0.46750	0.341000|0.341000|0.341000	0.19909|0.19909|0.19909	-0.712000|-0.712000|-0.712000	0.04988|0.04988|0.04988	-0.408000|-0.408000|-0.408000	0.06270|0.06270|0.06270	AAA|AAC|ACA		0.522	NAGK-032	NOVEL	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000471889.1			27	219	0	0	0	1	0	27	219					T	71300700	A	T	71300700	3	4	228	1	0	0	0	0	1	0	0	0	10142	40	2	5	715	5	NAGK	2	71300700	Missense_Mutation	SNP	A	TCGA-HC-8216-01A-11D-A29Q-08	25526803	71300700	171898673	17	10491											
IL1F7	27178	broad.mit.edu	37	chr2	113675255	113675255	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tccttgagctcagcctctgcGgagaaaggaagtccgattct	9	10	11	11	2	3	2	1	1	2	1	5	5	5	3	3	2	3	1	3	2	2	2			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr2:113675255G>A	ENST00000263326.3	+	4	351	c.309G>A	c.(307-309)gcG>gcA	p.A103A	IL37_ENST00000349806.3_Silent_p.A42A|IL37_ENST00000352179.3_Silent_p.A82A|IL37_ENST00000311328.2_Silent_p.A77A|IL37_ENST00000353225.3_Silent_p.A63A	NM_014439.3	NP_055254.2	Q9NZH6	IL37_HUMAN	interleukin 37	103					immune response (GO:0006955)|inflammatory response (GO:0006954)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|nucleus (GO:0005634)	interleukin-1 receptor binding (GO:0005149)			NS(1)|breast(2)|cervix(1)|endometrium(2)|large_intestine(1)|lung(7)|ovary(2)|skin(3)	19						CAGCCTCTGCGGAGAAAGGAA	0.488																																						ENST00000263326.3																			0				NS(1)|breast(2)|cervix(1)|endometrium(2)|large_intestine(1)|lung(7)|ovary(2)|skin(3)	19						c.(307-309)gcG>gcA		interleukin 37							187	196	193					2																	113675255		2203	4300	6503	SO:0001819	synonymous_variant	27178				immune response	cytosol|extracellular space|nucleus	cytokine activity|interleukin-1 receptor antagonist activity|interleukin-1 receptor binding	g.chr2:113675255G>A	AF201832	CCDS2103.1, CCDS2104.1, CCDS2105.1, CCDS2106.1, CCDS2107.1	2q12-q14.1	2011-06-06	2011-06-06	2011-06-06	ENSG00000125571	ENSG00000125571		"Interleukins and interleukin receptors"	15563	protein-coding gene	gene with protein product	"interleukin 1, zeta", "interleukin-1 homolog 4", "interleukin-1-related protein"	605510	"interleukin 1 family, member 7 (zeta)"	IL1F7		10625660, 10512743, 12496389	Standard	NM_014439		Approved	FIL1, FIL1Z, FIL1(ZETA), IL-1H4, IL-1RP1, IL-1F7	uc002tij.3	Q9NZH6	OTTHUMG00000131345	ENST00000263326.3:c.309G>A	2.37:g.113675255G>A						IL37_ENST00000353225.3_Silent_p.A63A|IL37_ENST00000311328.2_Silent_p.A77A|IL37_ENST00000352179.3_Silent_p.A82A|IL37_ENST00000349806.3_Silent_p.A42A	p.A103A	NM_014439.3	NP_055254.2	Q9NZH6	IL37_HUMAN			4	351	+			103					B5BU97|Q56AP9|Q8TD04|Q8TD05|Q9HBF2|Q9HBF3|Q9UHA6	Silent	SNP	ENST00000263326.3	37	c.309G>A	CCDS2103.1																																																																																				0.488	IL37-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254126.1	NM_014439		22	288	0	0	0	1	0	22	288					A	113675255	G	A	113675255	2	1	228	1	0	0	0	0	0	0	0	1	7655	1103	39	2		2	IL1F7	2	113675255	Silent	SNP	G	TCGA-HC-8216-01A-11D-A29Q-08	42374555	113675255	129524118	18	10492											
IWS1	55677	broad.mit.edu	37	chr2	128262666	128262666	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ctttccgaatcactgattcgGggtttgggaagctcttcatt	7	15	10	9	2	3	1	2	1	1	0	5	3	4	2	1	3	1	2	1	3	2	5			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr2:128262666G>C	ENST00000295321.4	-	3	1072	c.813C>G	c.(811-813)ccC>ccG	p.P271P	AC010976.2_ENST00000599001.1_RNA|IWS1_ENST00000486662.1_5'Flank|IWS1_ENST00000455721.2_Silent_p.P278P	NM_017969.2	NP_060439.2	Q96ST2	IWS1_HUMAN	IWS1 homolog (S. cerevisiae)	271	3 X approximate tandem repeats.|Glu-rich.				mRNA processing (GO:0006397)|mRNA transport (GO:0051028)|regulation of histone H3-K36 trimethylation (GO:2001253)|regulation of histone H4 acetylation (GO:0090239)|regulation of mRNA export from nucleus (GO:0010793)|regulation of mRNA processing (GO:0050684)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)			cervix(1)|endometrium(2)|kidney(6)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	28	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0735)		CACTGATTCGGGGTTTGGGAA	0.522																																						ENST00000295321.4																			0				cervix(1)|endometrium(2)|kidney(6)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	28						c.(811-813)ccC>ccG		IWS1 homolog (S. cerevisiae)							140	151	147					2																	128262666		2203	4300	6503	SO:0001819	synonymous_variant	55677				transcription, DNA-dependent	nucleus	DNA binding	g.chr2:128262666G>C	AK000868	CCDS2146.1	2q14.3	2006-03-17			ENSG00000163166	ENSG00000163166			25467	protein-coding gene	gene with protein product							Standard	NM_017969		Approved	DKFZp761G0123, FLJ10006, FLJ14655, FLJ32319	uc002ton.2	Q96ST2	OTTHUMG00000131527	ENST00000295321.4:c.813C>G	2.37:g.128262666G>C						IWS1_ENST00000455721.2_Silent_p.P278P|AC010976.2_ENST00000599001.1_RNA	p.P271P	NM_017969.2	NP_060439.2	Q96ST2	IWS1_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0735)	3	1072	-	Colorectal(110;0.1)		271			3 X approximate tandem repeats.|Glu-rich.		Q2TB65|Q6P157|Q8N3E8|Q96MI7|Q9NV97|Q9NWH8	Silent	SNP	ENST00000295321.4	37	c.813C>G	CCDS2146.1																																																																																				0.522	IWS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254384.2	NM_017969		32	275	0	0	0	1	0	32	275					C	128262666	G	C	128262666	2	2	228	1	0	0	0	0	0	0	0	1	7931	1219	43	5		5	IWS1	2	128262666	Silent	SNP	G	TCGA-HC-8216-01A-11D-A29Q-08	14587411	128262666	114936707	19	10493											
WDR33	55339	broad.mit.edu	37	chr2	128477088	128477088	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gatccttggggtggaggcccCtgcatgcctcggatctcctg	4	10	14	13	1	1	0	0	0	1	0	4	3	2	2	5	5	2	1	5	5	0	1			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr2:128477088C>A	ENST00000322313.4	-	16	2669	c.2511G>T	c.(2509-2511)caG>caT	p.Q837H		NM_018383.4	NP_060853.3	Q9C0J8	WDR33_HUMAN	WD repeat domain 33	837					mRNA processing (GO:0006397)|postreplication repair (GO:0006301)|spermatogenesis (GO:0007283)	collagen trimer (GO:0005581)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0695)		GTGGAGGCCCCTGCATGCCTC	0.632																																						ENST00000322313.4																			0				NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39						c.(2509-2511)caG>caT		WD repeat domain 33							32	35	34					2																	128477088		2203	4300	6503	SO:0001583	missense	55339				postreplication repair|spermatogenesis	collagen|nucleus	protein binding	g.chr2:128477088C>A		CCDS2150.1, CCDS42746.1, CCDS46407.1	2q21.1	2013-01-09			ENSG00000136709	ENSG00000136709		"WD repeat domain containing"	25651	protein-coding gene	gene with protein product						11162572	Standard	NM_001006622		Approved	FLJ11294, WDC146, NET14	uc002tpg.2	Q9C0J8	OTTHUMG00000131534	ENST00000322313.4:c.2511G>T	2.37:g.128477088C>A	ENSP00000325377:p.Gln837His						p.Q837H	NM_018383.4	NP_060853.3	Q9C0J8	WDR33_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0695)	16	2669	-	Colorectal(110;0.1)		837					Q05DP8|Q53FG9|Q587J1|Q69YF7|Q6NUQ0|Q9NUL1	Missense_Mutation	SNP	ENST00000322313.4	37	c.2511G>T	CCDS2150.1	.	.	.	.	.	.	.	.	.	.	C	16.69	3.193126	0.58017	.	.	ENSG00000136709	ENST00000322313	D	0.89746	-2.56	5.39	3.57	0.40892	.	0.345498	0.28901	N	0.013775	T	0.75547	0.3864	N	0.08118	0	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.67707	-0.5601	10	0.54805	T	0.06	-0.4845	7.2208	0.25985	0.0:0.7103:0.1401:0.1496	.	837	Q9C0J8	WDR33_HUMAN	H	837	ENSP00000325377:Q837H	ENSP00000325377:Q837H	Q	-	3	2	WDR33	128193558	0.999000	0.42202	0.996000	0.52242	0.950000	0.60333	0.713000	0.25794	0.735000	0.32537	0.563000	0.77884	CAG		0.632	WDR33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331141.2	NM_018383		22	37	1	0	1.96292e-10	1	2.36904e-10	22	37					A	128477088	C	A	128477088	3	1	228	1	0	0	0	0	1	0	0	0	17284	680	24	5	1527	5	WDR33	2	128477088	Missense_Mutation	SNP	C	TCGA-HC-8216-01A-11D-A29Q-08	214422	128477088	114722285	20	10494											
SCN2A	6326	broad.mit.edu	37	chr2	166245953	166245953	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gatgcccttcgaatacagatGgaagagcgattcatggcatc	12	9	11	9	2	1	2	1	0	0	2	3	6	1	3	1	2	3	1	1	2	3	3			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr2:166245953G>T	ENST00000375437.2	+	27	5927	c.5637G>T	c.(5635-5637)atG>atT	p.M1879I	SCN2A_ENST00000375427.2_Missense_Mutation_p.M1879I|SCN2A_ENST00000283256.6_Missense_Mutation_p.M1879I|SCN2A_ENST00000357398.3_Missense_Mutation_p.M1879I	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	1879					intrinsic apoptotic signaling pathway in response to osmotic stress (GO:0008627)|membrane depolarization during action potential (GO:0086010)|myelination (GO:0042552)|neuron apoptotic process (GO:0051402)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon (GO:0030424)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intrinsic component of plasma membrane (GO:0031226)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|sodium channel complex (GO:0034706)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)|Propofol(DB00818)|Valproic Acid(DB00313)|Zonisamide(DB00909)	GAATACAGATGGAAGAGCGAT	0.463																																						ENST00000375437.2																			0				NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118						c.(5635-5637)atG>atT		sodium channel, voltage-gated, type II, alpha subunit	Lamotrigine(DB00555)						109	96	100					2																	166245953		2203	4300	6503	SO:0001583	missense	6326				myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:166245953G>T	AB208888	CCDS33313.1, CCDS33314.1	2q24.3	2012-02-26	2007-01-23	2007-01-23	ENSG00000136531	ENSG00000136531		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10588	protein-coding gene	gene with protein product		182390	"sodium channel, voltage-gated, type II, alpha 2 polypeptide", "sodium channel, voltage-gated, type II, alpha 1 polypeptide"	SCN2A1, SCN2A2		1317301, 16382098	Standard	XM_005246753		Approved	Nav1.2, HBSCII, HBSCI	uc002ude.3	Q99250	OTTHUMG00000044172	ENST00000375437.2:c.5637G>T	2.37:g.166245953G>T	ENSP00000364586:p.Met1879Ile					SCN2A_ENST00000283256.6_Missense_Mutation_p.M1879I|SCN2A_ENST00000375427.2_Missense_Mutation_p.M1879I|SCN2A_ENST00000357398.3_Missense_Mutation_p.M1879I	p.M1879I	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN			27	5927	+			1879					A6NC14|A6NIQ5|Q14472|Q53T77|Q9BZC9|Q9BZD0	Missense_Mutation	SNP	ENST00000375437.2	37	c.5637G>T	CCDS33314.1	.	.	.	.	.	.	.	.	.	.	G	16.72	3.201097	0.58234	.	.	ENSG00000136531	ENST00000375437;ENST00000357398;ENST00000283256;ENST00000375427	D;D;D;D	0.96365	-3.99;-3.99;-3.99;-3.99	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	D	0.98188	0.9401	M	0.67397	2.05	0.80722	D	1	P;B	0.34412	0.453;0.436	B;D	0.63957	0.431;0.92	D	0.97810	1.0250	10	0.66056	D	0.02	.	19.8849	0.96909	0.0:0.0:1.0:0.0	.	1879;1879	Q99250-2;Q99250	.;SCN2A_HUMAN	I	1879	ENSP00000364586:M1879I;ENSP00000349973:M1879I;ENSP00000283256:M1879I;ENSP00000364576:M1879I	ENSP00000283256:M1879I	M	+	3	0	SCN2A	165954199	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.762000	0.98944	2.781000	0.95711	0.580000	0.79431	ATG		0.463	SCN2A-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000102659.2	NM_021007		4	81	1	0	2.56e-06	1	3.00671e-06	4	81					T	166245953	G	T	166245953	3	4	228	1	0	0	0	0	1	0	0	0	13916	1348	47	5	5835	5	SCN2A	2	166245953	Missense_Mutation	SNP	G	TCGA-HC-8216-01A-11D-A29Q-08	37768865	166245953	76953420	21	10495											
SCN1A	6323	broad.mit.edu	37	chr2	166848422	166848422	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cttcagtagcaacactgaagTtctccaggatgaccgcgatg	11	9	10	11	2	2	2	1	2	1	0	3	4	2	3	2	1	2	3	2	1	3	3			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr2:166848422T>A	ENST00000303395.4	-	26	5362	c.5363A>T	c.(5362-5364)aAc>aTc	p.N1788I	AC010127.3_ENST00000597623.1_RNA|SCN1A_ENST00000423058.2_Missense_Mutation_p.N1788I|SCN1A_ENST00000375405.3_Missense_Mutation_p.N1777I|SCN1A_ENST00000409050.1_Missense_Mutation_p.N1760I|AC010127.3_ENST00000595647.1_RNA			P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	1788					adult walking behavior (GO:0007628)|membrane depolarization during action potential (GO:0086010)|neuromuscular process controlling posture (GO:0050884)|neuronal action potential (GO:0019228)|neuronal action potential propagation (GO:0019227)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon initial segment (GO:0043194)|intercalated disc (GO:0014704)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)|Z disc (GO:0030018)	voltage-gated sodium channel activity (GO:0005248)			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Dronedarone(DB04855)|Nitrazepam(DB01595)|Permethrin(DB04930)|Phenacemide(DB01121)|Phenazopyridine(DB01438)|Phenytoin(DB00252)|Topiramate(DB00273)|Valproic Acid(DB00313)|Zonisamide(DB00909)	AACACTGAAGTTCTCCAGGAT	0.448																																						ENST00000423058.2																			0				NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200						c.(5362-5364)aAc>aTc		sodium channel, voltage-gated, type I, alpha subunit	Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)						108	106	107					2																	166848422		2202	4281	6483	SO:0001583	missense	6323					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:166848422T>A	AB093548	CCDS33316.1, CCDS54413.1, CCDS54414.1	2q24.3	2014-09-17	2007-01-23		ENSG00000144285	ENSG00000144285		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10585	protein-coding gene	gene with protein product		182389	"febrile convulsions 3"	SCN1, FEB3		8062593, 16382098, 11823106	Standard	NM_006920		Approved	Nav1.1, GEFSP2, HBSCI, NAC1, SMEI	uc021vsb.1	P35498	OTTHUMG00000044173	ENST00000303395.4:c.5363A>T	2.37:g.166848422T>A	ENSP00000303540:p.Asn1788Ile					SCN1A_ENST00000303395.4_Missense_Mutation_p.N1788I|AC010127.3_ENST00000597623.1_RNA|AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000409050.1_Missense_Mutation_p.N1760I|SCN1A_ENST00000375405.3_Missense_Mutation_p.N1777I	p.N1788I	NM_001165963.1|NM_001202435.1	NP_001159435.1|NP_001189364.1	P35498	SCN1A_HUMAN			26	5380	-			1788					E9PG49|Q16172|Q585T7|Q8IUJ6|Q96LA3|Q9C008	Missense_Mutation	SNP	ENST00000303395.4	37	c.5363A>T	CCDS54413.1	.	.	.	.	.	.	.	.	.	.	T	21.7	4.190527	0.78789	.	.	ENSG00000144285	ENST00000423058;ENST00000303395;ENST00000375405;ENST00000409050	D;D;D;D	0.97430	-4.38;-4.38;-4.38;-4.38	5.69	5.69	0.88448	.	0.000000	0.64402	D	0.000002	D	0.98735	0.9575	M	0.91612	3.225	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99777	1.1026	10	0.87932	D	0	.	15.9572	0.79896	0.0:0.0:0.0:1.0	.	1777	P35498-2	.	I	1788;1788;1777;1760	ENSP00000407030:N1788I;ENSP00000303540:N1788I;ENSP00000364554:N1777I;ENSP00000386312:N1760I	ENSP00000303540:N1788I	N	-	2	0	SCN1A	166556668	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.938000	0.87678	2.161000	0.67846	0.528000	0.53228	AAC		0.448	SCN1A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102661.1	NM_006920		6	161	0	0	0	1	0	6	161					A	166848422	T	A	166848422	3	1	228	1	0	0	0	0	1	0	0	0	13914	1725	60	5	670	5	SCN1A	2	166848422	Missense_Mutation	SNP	T	TCGA-HC-8216-01A-11D-A29Q-08	602469	166848422	76350951	22	10496											
SGOL2	151246	broad.mit.edu	37	chr2	201438669	201438669	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atgaacaagatgaaatttaaAgtcaaccggagaacccaaaa	21	6	7	7	1	1	4	1	2	0	2	1	5	1	4	2	1	3	0	2	1	9	2			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr2:201438669A>C	ENST00000357799.4	+	7	3698	c.3600A>C	c.(3598-3600)aaA>aaC	p.K1200N		NM_001160033.1|NM_001160046.1|NM_152524.5	NP_001153505.1|NP_001153518.1|NP_689737.4	Q562F6	SGOL2_HUMAN	shugoshin-like 2 (S. pombe)	1200					meiotic sister chromatid cohesion, centromeric (GO:0051754)|mitotic cell cycle (GO:0000278)	chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|kinetochore (GO:0000776)|mitotic cohesin complex (GO:0030892)|nucleus (GO:0005634)		p.K1200N(1)		NS(2)|breast(2)|cervix(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	46						TGAAATTTAAAGTCAACCGGA	0.318																																						ENST00000357799.4																			1	Substitution - Missense(1)	p.K1200N(1)	lung(1)	NS(2)|breast(2)|cervix(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	46						c.(3598-3600)aaA>aaC		shugoshin-like 2 (S. pombe)							69	63	65					2																	201438669		1817	4076	5893	SO:0001583	missense	151246				cell division|mitotic prometaphase	condensed chromosome kinetochore|cytosol|mitotic cohesin complex	protein binding	g.chr2:201438669A>C	AY094614	CCDS42796.1	2q33.2	2008-02-05			ENSG00000163535	ENSG00000163535			30812	protein-coding gene	gene with protein product		612425					Standard	NM_001160046		Approved	TRIPIN, FLJ25211	uc002uvw.2	Q562F6	OTTHUMG00000154535	ENST00000357799.4:c.3600A>C	2.37:g.201438669A>C	ENSP00000350447:p.Lys1200Asn						p.K1200N	NM_001160033.1|NM_001160046.1|NM_152524.5	NP_001153505.1|NP_001153518.1|NP_689737.4	Q562F6	SGOL2_HUMAN			7	3698	+			1200					Q53RR9|Q53T20|Q86XY4|Q8IWK2|Q8IZK1|Q8N1Q5|Q96LQ3	Missense_Mutation	SNP	ENST00000357799.4	37	c.3600A>C	CCDS42796.1	.	.	.	.	.	.	.	.	.	.	A	12.26	1.883765	0.33255	.	.	ENSG00000163535	ENST00000357799	T	0.12569	2.67	5.24	-2.16	0.07080	.	1.023730	0.07784	N	0.953751	T	0.06234	0.0161	N	0.14661	0.345	0.09310	N	1	B;B;B	0.12013	0.005;0.005;0.005	B;B;B	0.10450	0.005;0.005;0.005	T	0.39742	-0.9599	10	0.39692	T	0.17	-0.2773	0.4076	0.00436	0.4022:0.1378:0.1635:0.2965	.	1200;1200;1200	B7Z7S9;Q562F6-2;Q562F6	.;.;SGOL2_HUMAN	N	1200	ENSP00000350447:K1200N	ENSP00000350447:K1200N	K	+	3	2	SGOL2	201146914	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.019000	0.13444	-0.513000	0.06496	-0.451000	0.05528	AAA		0.318	SGOL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335834.1	NM_152524		4	58	0	0	0	1	0	4	58					C	201438669	A	C	201438669	3	2	228	1	0	0	0	0	1	0	0	0	14217	69	3	5	3622	5	SGOL2	2	201438669	Missense_Mutation	SNP	A	TCGA-HC-8216-01A-11D-A29Q-08	34590247	201438669	41760704	23	10497											
SPEG	10290	broad.mit.edu	37	chr2	220350132	220350132	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccgcggaaggacaaggggttAtcgccaccaaacctctctgc	10	6	11	14	3	1	0	0	0	1	0	3	2	1	2	4	4	2	1	4	4	4	1			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr2:220350132A>G	ENST00000312358.7	+	31	7806	c.7674A>G	c.(7672-7674)ttA>ttG	p.L2558L	SPEG_ENST00000485813.1_3'UTR|AC053503.11_ENST00000429882.1_RNA	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	2558					cardiac muscle cell development (GO:0055013)|in utero embryonic development (GO:0001701)|muscle organ development (GO:0007517)|negative regulation of cell proliferation (GO:0008285)|respiratory system development (GO:0060541)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		ACAAGGGGTTATCGCCACCAA	0.612																																						ENST00000312358.7																			0				breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100						c.(7672-7674)ttA>ttG		SPEG complex locus							56	63	61					2																	220350132		2121	4221	6342	SO:0001819	synonymous_variant	10290				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity	g.chr2:220350132A>G	BC006346	CCDS42824.1, CCDS54432.1	2q35	2013-01-11	2006-04-27	2006-04-27	ENSG00000072195	ENSG00000072195		"Immunoglobulin superfamily / I-set domain containing"	16901	protein-coding gene	gene with protein product		615950	"aortic preferentially expressed gene 1"	APEG1		8663449, 10973969	Standard	NM_005876		Approved	MGC12676, KIAA1297, SPEGalpha, SPEGbeta, BPEG	uc010fwg.3	Q15772	OTTHUMG00000058925	ENST00000312358.7:c.7674A>G	2.37:g.220350132A>G						SPEG_ENST00000485813.1_3'UTR|AC053503.11_ENST00000429882.1_RNA	p.L2558L	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)	31	7806	+		Renal(207;0.0183)	2558					A8K0G6|A8MRU0|Q27J74|Q695L1|Q6FGA6|Q6ZQW1|Q6ZTL8|Q9P2P9	Silent	SNP	ENST00000312358.7	37	c.7674A>G	CCDS42824.1																																																																																				0.612	SPEG-004	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130252.2	NM_005876		4	107	0	0	0	1	0	4	107					G	220350132	A	G	220350132	2	3	228	1	0	0	0	0	0	0	0	1	15035	446	16	4		4	SPEG	2	220350132	Silent	SNP	A	TCGA-HC-8216-01A-11D-A29Q-08	18911463	220350132	22849241	24	10498											
STK11IP	114790	broad.mit.edu	37	chr2	220473351	220473351	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgtcccctggaggggcctgaGggcgtacggggcagggaatg	6	6	20	9	2	0	1	0	1	0	0	1	3	1	3	3	7	1	2	3	7	2	1			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr2:220473351G>T	ENST00000456909.1	+	15	1740	c.1650G>T	c.(1648-1650)gaG>gaT	p.E550D	STK11IP_ENST00000295641.10_Missense_Mutation_p.E561D			Q8N1F8	S11IP_HUMAN	serine/threonine kinase 11 interacting protein	561	Glu-rich.				protein localization (GO:0008104)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal membrane (GO:0005765)	protein kinase binding (GO:0019901)			breast(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|urinary_tract(1)	23		Renal(207;0.0183)		Epithelial(149;2.69e-07)|all cancers(144;5.91e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AGGGGCCTGAGGGCGTACGGG	0.602																																						ENST00000456909.1																			0				breast(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|urinary_tract(1)	23						c.(1648-1650)gaG>gaT		serine/threonine kinase 11 interacting protein							51	56	54					2																	220473351		1990	4146	6136	SO:0001583	missense	114790				protein localization	cytoplasm	protein kinase binding	g.chr2:220473351G>T	AF450267	CCDS46521.1	2q35	2008-06-03			ENSG00000144589	ENSG00000144589			19184	protein-coding gene	gene with protein product	"LKB1 interacting protein"	607172				11741830	Standard	NM_052902		Approved	LIP1, KIAA1898, LKB1IP, STK11IP1	uc002vml.3	Q8N1F8	OTTHUMG00000059239	ENST00000456909.1:c.1650G>T	2.37:g.220473351G>T	ENSP00000389383:p.Glu550Asp					STK11IP_ENST00000295641.10_Missense_Mutation_p.E561D	p.E550D			Q8N1F8	S11IP_HUMAN		Epithelial(149;2.69e-07)|all cancers(144;5.91e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	15	1740	+		Renal(207;0.0183)	561			Glu-rich.		Q8NAW9|Q8WXE4|Q96CN3|Q96PY9	Missense_Mutation	SNP	ENST00000456909.1	37	c.1650G>T		.	.	.	.	.	.	.	.	.	.	G	2.012	-0.426951	0.04701	.	.	ENSG00000144589	ENST00000456909;ENST00000426736;ENST00000295641	T;T	0.05258	3.47;3.47	4.5	1.35	0.21983	.	0.842078	0.10336	N	0.686940	T	0.05364	0.0142	L	0.46157	1.445	0.09310	N	1	B;B;B	0.24823	0.001;0.112;0.001	B;B;B	0.23852	0.002;0.049;0.003	T	0.45731	-0.9241	10	0.17369	T	0.5	-0.6098	2.6791	0.05088	0.1024:0.3177:0.3951:0.1848	.	529;561;561	B4DUE4;Q8N1F8-2;Q8N1F8	.;.;S11IP_HUMAN	D	550;529;561	ENSP00000389383:E550D;ENSP00000295641:E561D	ENSP00000295641:E561D	E	+	3	2	STK11IP	220181595	0.082000	0.21442	0.004000	0.12327	0.136000	0.21042	0.236000	0.17967	0.499000	0.27970	0.561000	0.74099	GAG		0.602	STK11IP-001	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000131432.1	NM_052902		3	54	1	0	0.004672	1	0.0049253	3	54					T	220473351	G	T	220473351	3	4	228	1	0	0	0	0	1	0	0	0	15287	991	35	5	1741	5	STK11IP	2	220473351	Missense_Mutation	SNP	G	TCGA-HC-8216-01A-11D-A29Q-08	123219	220473351	22726022	25	10499											
WDR69	164781	broad.mit.edu	37	chr2	228786194	228786194	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aatctgggatgctcagactgGccagtgcctccaggttcttg	7	11	12	11	0	3	1	1	0	2	1	4	2	4	2	3	3	2	2	3	3	1	2			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr2:228786194G>A	ENST00000309931.2	+	12	1213	c.1130G>A	c.(1129-1131)gGc>gAc	p.G377D	DAW1_ENST00000545118.1_Missense_Mutation_p.G362D|DAW1_ENST00000373666.2_3'UTR	NM_178821.1	NP_849143.1	Q8N136	DAW1_HUMAN	dynein assembly factor with WDR repeat domains 1	377						cilium (GO:0005929)											GCTCAGACTGGCCAGTGCCTC	0.433																																						ENST00000309931.2																			0											c.(1129-1131)gGc>gAc		dynein assembly factor with WDR repeat domains 1							92	90	91					2																	228786194		2203	4300	6503	SO:0001583	missense	164781							g.chr2:228786194G>A		CCDS2470.1	2q36.3	2013-09-03	2013-02-19	2013-02-19	ENSG00000123977	ENSG00000123977		"WD repeat domain containing"	26383	protein-coding gene	gene with protein product	"outer row dynein assembly 16 homolog (Chlamydomonas)"		"WD repeat domain 69"	WDR69		20568242, 21953912	Standard	NM_178821		Approved	FLJ25955, ODA16	uc002vpn.1	Q8N136	OTTHUMG00000133190	ENST00000309931.2:c.1130G>A	2.37:g.228786194G>A	ENSP00000311899:p.Gly377Asp					DAW1_ENST00000373666.2_3'UTR|DAW1_ENST00000545118.1_Missense_Mutation_p.G362D	p.G377D	NM_178821.1	NP_849143.1					12	1213	+								Q6ZRY1|Q8N776	Missense_Mutation	SNP	ENST00000309931.2	37	c.1130G>A	CCDS2470.1	.	.	.	.	.	.	.	.	.	.	G	27.5	4.833715	0.91036	.	.	ENSG00000123977	ENST00000309931;ENST00000545118	T;T	0.63913	-0.07;-0.07	5.41	5.41	0.78517	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.83096	0.5180	M	0.90145	3.09	0.80722	D	1	D	0.61697	0.99	D	0.71414	0.973	D	0.86621	0.1879	10	0.87932	D	0	.	18.1995	0.89833	0.0:0.0:1.0:0.0	.	377	Q8N136	WDR69_HUMAN	D	377;362	ENSP00000311899:G377D;ENSP00000437887:G362D	ENSP00000311899:G377D	G	+	2	0	WDR69	228494438	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	8.900000	0.92551	2.532000	0.85374	0.650000	0.86243	GGC		0.433	DAW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331745.1	NM_178821		12	61	0	0	0	1	0	12	61					A	228786194	G	A	228786194	3	1	228	1	0	0	0	0	1	0	0	0	17316	1203	42	3	1176	3	WDR69	2	228786194	Missense_Mutation	SNP	G	TCGA-HC-8216-01A-11D-A29Q-08	8312843	228786194	14413179	26	10500											
UGT1A4	54657	broad.mit.edu	37	chr2	234628298	234628309	+	In_Frame_Del	DEL	GGCATCAACTGT	GGCATCAACTGT	-																															ccaacatggtcttcattgggGgcatcaactgtgccaacggg																										TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr2:234628298_234628309delGGCATCAACTGT	ENST00000373409.3	+	1	875_886	c.832_843delGGCATCAACTGT	c.(832-843)ggcatcaactgtdel	p.GINC278del	UGT1A1_ENST00000608381.1_Intron|UGT1A6_ENST00000406651.1_Intron|UGT1A6_ENST00000373424.1_Intron|UGT1A7_ENST00000373426.3_Intron|UGT1A6_ENST00000305139.6_Intron|UGT1A6_ENST00000480628.1_Intron|UGT1A1_ENST00000373450.4_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A1_ENST00000609637.1_Intron|UGT1A5_ENST00000373414.3_Intron|UGT1A10_ENST00000344644.5_Intron	NM_007120.2	NP_009051.1	P22310	UD14_HUMAN	UDP glucuronosyltransferase 1 family, polypeptide A4	278					cellular glucuronidation (GO:0052695)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	enzyme binding (GO:0019899)|glucuronosyltransferase activity (GO:0015020)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|skin(2)|urinary_tract(1)	26		Breast(86;0.000765)|all_lung(227;0.00266)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.0456)|Lung SC(224;0.128)		Epithelial(121;3.49e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000504)|Lung(119;0.0026)|LUSC - Lung squamous cell carcinoma(224;0.00624)	Asenapine(DB06216)|Clozapine(DB00363)|Ezogabine(DB04953)|Lamotrigine(DB00555)|Midazolam(DB00683)|Paricalcitol(DB00910)|Tamoxifen(DB00675)|Trifluoperazine(DB00831)|Valproic Acid(DB00313)	CTTCATTGGGGGCATCAACTGTGCCAACGGGA	0.476																																					Melanoma(99;1011 1962 13201 26492)	ENST00000373409.3																			0				autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|skin(2)|urinary_tract(1)	26						c.(832-843)del																																						SO:0001651	inframe_deletion	0							g.chr2:234628298_234628309delGGCATCAACTGT	M84128	CCDS33405.1	2q37.1	2014-01-10	2005-07-20		ENSG00000244474	ENSG00000244474		"UDP glucuronosyltransferases"	12536	other	complex locus constituent		606429	"UDP glycosyltransferase 1 family, polypeptide A4"			9295054, 1339448	Standard	NM_007120		Approved	HUG-BR2, UGT1D	uc002vux.3	P22310	OTTHUMG00000059119	ENST00000373409.3:c.832_843delGGCATCAACTGT	2.37:g.234628298_234628309delGGCATCAACTGT	ENSP00000362508:p.Gly278_Cys281del					UGT1A6_ENST00000480628.1_Intron|UGT1A7_ENST00000373426.3_Intron|UGT1A6_ENST00000373424.1_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A8_ENST00000373450.4_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A5_ENST00000373414.3_Intron|UGT1A6_ENST00000406651.1_Intron|UGT1A6_ENST00000305139.6_Intron	p.GINC278del	NM_007120.2	NP_009051.1				Epithelial(121;3.49e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000504)|Lung(119;0.0026)|LUSC - Lung squamous cell carcinoma(224;0.00624)	1	875_886	+		Breast(86;0.000765)|all_lung(227;0.00266)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.0456)|Lung SC(224;0.128)						B2R937|B8K288|Q5DT00	In_Frame_Del	DEL	ENST00000373409.3	37	c.832_843delGGCATCAACTGT	CCDS33405.1																																																																																				0.476	UGT1A4-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000130984.1	NM_007120		23	229						23	229	---	---	---	---	-	234628309	GGCATCAACTGT	-	234628298	7	5	228	1	0	1	0	1	0	0	0	0	16944	1232	43	0	834	0	UGT1A4	2	234628298	In_Frame_Del	DEL	GGCATCAACTGT	TCGA-HC-8216-01A-11D-A29Q-08	5842104	234628298	8571075	27	10501											
HDLBP	3069	broad.mit.edu	37	chr2	242189366	242189366	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcaggagggatgcgcacggAcaccttgtactggtctttga	8	10	14	9	2	2	1	1	1	1	0	2	4	2	4	1	4	2	2	1	4	1	3			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr2:242189366A>C	ENST00000391975.1	-	12	1629	c.1402T>G	c.(1402-1404)Tcc>Gcc	p.S468A	HDLBP_ENST00000476807.1_5'UTR|HDLBP_ENST00000427183.2_Missense_Mutation_p.S435A|HDLBP_ENST00000391976.2_Missense_Mutation_p.S468A|HDLBP_ENST00000310931.4_Missense_Mutation_p.S468A	NM_203346.3	NP_976221	Q00341	VIGLN_HUMAN	high density lipoprotein binding protein	468	KH 5. {ECO:0000255|PROSITE- ProRule:PRU00117}.				cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)	cytoplasm (GO:0005737)|high-density lipoprotein particle (GO:0034364)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)|poly(A) RNA binding (GO:0044822)			breast(7)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(11)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		all_cancers(19;7.77e-41)|all_epithelial(40;1.74e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.0121)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;8.13e-34)|all cancers(36;4.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;2.34e-15)|Kidney(56;3.72e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.76e-08)|BRCA - Breast invasive adenocarcinoma(100;3.38e-06)|Lung(119;0.000109)|LUSC - Lung squamous cell carcinoma(224;0.000964)|Colorectal(34;0.0132)|COAD - Colon adenocarcinoma(134;0.0928)		ATGCGCACGGACACCTTGTAC	0.517																																						ENST00000391975.1																			0				breast(7)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(11)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						c.(1402-1404)Tcc>Gcc		high density lipoprotein binding protein							247	187	207					2																	242189366		2203	4300	6503	SO:0001583	missense	3069				cholesterol metabolic process|lipid transport	cytoplasm|high-density lipoprotein particle|nucleus|plasma membrane	lipid binding|protein binding|RNA binding	g.chr2:242189366A>C		CCDS2547.1, CCDS58760.1	2q37.3	2008-07-18	2008-07-18		ENSG00000115677	ENSG00000115677			4857	protein-coding gene	gene with protein product		142695	"vigilin"	VGL		1318310, 8390966	Standard	NM_005336		Approved	HBP	uc002waz.3	Q00341	OTTHUMG00000133391	ENST00000391975.1:c.1402T>G	2.37:g.242189366A>C	ENSP00000375836:p.Ser468Ala					HDLBP_ENST00000391976.2_Missense_Mutation_p.S468A|HDLBP_ENST00000427183.2_Missense_Mutation_p.S435A|HDLBP_ENST00000310931.4_Missense_Mutation_p.S468A|HDLBP_ENST00000476807.1_5'UTR	p.S468A	NM_203346.3	NP_976221.1	Q00341	VIGLN_HUMAN		Epithelial(32;8.13e-34)|all cancers(36;4.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;2.34e-15)|Kidney(56;3.72e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.76e-08)|BRCA - Breast invasive adenocarcinoma(100;3.38e-06)|Lung(119;0.000109)|LUSC - Lung squamous cell carcinoma(224;0.000964)|Colorectal(34;0.0132)|COAD - Colon adenocarcinoma(134;0.0928)	12	1629	-		all_cancers(19;7.77e-41)|all_epithelial(40;1.74e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.0121)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)	468			KH 5.		B4DTQ2|E7EM71|Q53QU2|Q9UCY3	Missense_Mutation	SNP	ENST00000391975.1	37	c.1402T>G	CCDS2547.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	15.21|15.21	2.766866|2.766866	0.49574|0.49574	.|.	.|.	ENSG00000115677|ENSG00000115677	ENST00000391975;ENST00000391976;ENST00000310931;ENST00000427183|ENST00000373292	T;T;T;T|T	0.32515|0.53206	1.45;1.45;1.45;1.45|0.63	5.6|5.6	5.6|5.6	0.85130|0.85130	K Homology (1);K Homology, type 1, subgroup (1);K Homology, type 1 (1);|.	0.101081|.	0.64402|.	D|.	0.000001|.	T|T	0.63200|0.63200	0.2491|0.2491	M|M	0.66939|0.66939	2.045|2.045	0.50467|0.50467	D|D	0.999877|0.999877	B;P|.	0.44429|.	0.239;0.835|.	B;P|.	0.50570|.	0.403;0.644|.	T|T	0.66023|0.66023	-0.6026|-0.6026	10|7	0.13108|0.66056	T|D	0.6|0.02	-15.9272|-15.9272	16.0858|16.0858	0.81049|0.81049	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	435;468|.	E7EM71;Q00341|.	.;VIGLN_HUMAN|.	A|G	468;468;468;435|276	ENSP00000375836:S468A;ENSP00000375837:S468A;ENSP00000312042:S468A;ENSP00000399139:S435A|ENSP00000362389:V276G	ENSP00000312042:S468A|ENSP00000362389:V276G	S|V	-|-	1|2	0|0	HDLBP|HDLBP	241838039|241838039	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.994000|0.994000	0.84299|0.84299	4.913000|4.913000	0.63341|0.63341	2.264000|2.264000	0.75181|0.75181	0.533000|0.533000	0.62120|0.62120	TCC|GTC		0.517	HDLBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257245.5	NM_203346		7	115	0	0	0	1	0	7	115					C	242189366	A	C	242189366	3	2	228	1	0	0	0	0	1	0	0	0	7025	275	10	5	2472	5	HDLBP	2	242189366	Missense_Mutation	SNP	A	TCGA-HC-8216-01A-11D-A29Q-08	7561068	242189366	1010007	28	10502											
THAP4	51078	broad.mit.edu	37	chr2	242573471	242573471	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttttaaccattggattagaCgttttgagtcctttaggggg	8	16	11	6	1	0	2	0	1	0	1	1	3	1	3	2	3	1	1	2	3	3	8			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr2:242573471C>T	ENST00000407315.1	-	2	532	c.101G>A	c.(100-102)cGt>cAt	p.R34H		NM_015963.5	NP_057047.4	Q8WY91	THAP4_HUMAN	THAP domain containing 4	34							DNA binding (GO:0003677)|metal ion binding (GO:0046872)			kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)	9		all_cancers(19;2.09e-34)|all_epithelial(40;2.09e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Ovarian(221;0.069)|Lung NSC(271;0.0886)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.2)		Epithelial(32;2.3e-33)|all cancers(36;8.99e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.68e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.65e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0844)		TTGGATTAGACGTTTTGAGTC	0.368																																						ENST00000407315.1																			0				kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)	9						c.(100-102)cGt>cAt		THAP domain containing 4							74	85	81					2																	242573471		2202	4295	6497	SO:0001583	missense	51078						DNA binding|metal ion binding	g.chr2:242573471C>T	AF258556	CCDS2551.1, CCDS54440.1	2q37.3	2013-01-25			ENSG00000176946	ENSG00000176946		"THAP (C2CH-type zinc finger) domain containing"	23187	protein-coding gene	gene with protein product		612533				12575992, 10810093	Standard	NM_015963		Approved	CGI-36	uc002wbt.3	Q8WY91	OTTHUMG00000133410	ENST00000407315.1:c.101G>A	2.37:g.242573471C>T	ENSP00000385006:p.Arg34His						p.R34H	NM_015963.5	NP_057047.4	Q8WY91	THAP4_HUMAN		Epithelial(32;2.3e-33)|all cancers(36;8.99e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.68e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.65e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0844)	2	532	-		all_cancers(19;2.09e-34)|all_epithelial(40;2.09e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Ovarian(221;0.069)|Lung NSC(271;0.0886)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.2)	34					Q53NU7|Q6GRN0|Q6IPJ3|Q9NW26|Q9Y325	Missense_Mutation	SNP	ENST00000407315.1	37	c.101G>A	CCDS2551.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.416868	0.83449	.	.	ENSG00000176946	ENST00000407315	D	0.96651	-4.08	4.93	4.93	0.64822	Zinc finger, C2CH-type (4);	0.685435	0.14023	N	0.346668	D	0.98346	0.9451	M	0.87900	2.915	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.98951	1.0794	10	0.87932	D	0	-16.3601	16.7001	0.85346	0.0:1.0:0.0:0.0	.	34	Q8WY91	THAP4_HUMAN	H	34	ENSP00000385006:R34H	ENSP00000385006:R34H	R	-	2	0	THAP4	242222144	0.996000	0.38824	0.958000	0.39756	0.983000	0.72400	4.476000	0.60216	2.431000	0.82371	0.655000	0.94253	CGT		0.368	THAP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257267.3	NM_015963		7	93	0	0	0	1	0	7	93					T	242573471	C	T	242573471	3	4	228	1	0	0	0	0	1	0	0	0	15843	536	19	1	1660	1	THAP4	2	242573471	Missense_Mutation	SNP	C	TCGA-HC-8216-01A-11D-A29Q-08	384105	242573471	625902	29	10503											
CPNE9	151835	broad.mit.edu	37	chr3	9771372	9771372	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gatcccagctccagagcagcCctgaggattccacatatcca	11	7	8	15	0	0	2	0	1	0	1	4	4	4	3	5	1	3	2	5	1	1	2			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr3:9771372C>T	ENST00000383832.3	+	21	1848	c.1658C>T	c.(1657-1659)cCc>cTc	p.P553L	BRPF1_ENST00000424362.1_5'Flank|BRPF1_ENST00000383829.2_5'Flank|BRPF1_ENST00000302054.3_5'Flank|BRPF1_ENST00000433861.2_5'Flank	NM_153635.2	NP_705899.2	Q8IYJ1	CPNE9_HUMAN	copine family member IX	553						extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	16	Medulloblastoma(99;0.227)					CCAGAGCAGCCCTGAGGATTC	0.612																																						ENST00000383832.3																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	16						c.(1657-1659)cCc>cTc		copine family member IX							30	36	34					3																	9771372		2053	4175	6228	SO:0001583	missense	151835							g.chr3:9771372C>T		CCDS2574.2	3p25.3	2008-10-30			ENSG00000144550	ENSG00000144550			24336	protein-coding gene	gene with protein product						9430674	Standard	XM_006712990		Approved	KIAA4217	uc003bsd.3	Q8IYJ1	OTTHUMG00000128418	ENST00000383832.3:c.1658C>T	3.37:g.9771372C>T	ENSP00000373343:p.Pro553Leu						p.P553L	NM_153635.2	NP_705899.2	Q8IYJ1	CPNE9_HUMAN			21	1848	+	Medulloblastoma(99;0.227)		553					A1L430|A6NDX6|A8MSP8	Missense_Mutation	SNP	ENST00000383832.3	37	c.1658C>T	CCDS2574.2	.	.	.	.	.	.	.	.	.	.	C	15.79	2.938355	0.52972	.	.	ENSG00000144550	ENST00000383832	T	0.05319	3.46	5.22	4.35	0.52113	.	4.875560	0.02201	U	0.062273	T	0.07863	0.0197	L	0.29908	0.895	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.29088	-1.0023	10	0.87932	D	0	.	7.765	0.28974	0.0:0.8127:0.0:0.1873	.	553	Q8IYJ1	CPNE9_HUMAN	L	553	ENSP00000373343:P553L	ENSP00000373343:P553L	P	+	2	0	CPNE9	9746372	0.002000	0.14202	0.996000	0.52242	0.995000	0.86356	-0.019000	0.12546	1.167000	0.42706	0.655000	0.94253	CCC		0.612	CPNE9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250205.4	NM_001033755		4	42	0	0	0	1	0	4	42					T	9771372	C	T	9771372	3	4	228	1	0	0	0	0	1	0	0	0	3819	623	22	3	1736	3	CPNE9	3	9771372	Missense_Mutation	SNP	C	TCGA-HC-8216-01A-11D-A29Q-08		9771372	188251058	30	10504											
SCN5A	6331	broad.mit.edu	37	chr3	38592950	38592950	+	Missense_Mutation	SNP	C	C	A																															tgcggatccccttggcccctCggatcagtctgaggatgcgg																								rs374557801		TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr3:38592950C>A	ENST00000333535.4	-	28	5062	c.4913G>T	c.(4912-4914)cGa>cTa	p.R1638L	SCN5A_ENST00000443581.1_Missense_Mutation_p.R1637L|SCN5A_ENST00000425664.1_Missense_Mutation_p.R1620L|SCN5A_ENST00000450102.2_Missense_Mutation_p.R1584L|SCN5A_ENST00000413689.1_Missense_Mutation_p.R1638L|SCN5A_ENST00000464652.1_5'Flank|SCN5A_ENST00000451551.2_Missense_Mutation_p.R1584L|SCN5A_ENST00000423572.2_Missense_Mutation_p.R1637L|SCN5A_ENST00000455624.2_Missense_Mutation_p.R1605L|SCN5A_ENST00000449557.2_Missense_Mutation_p.R1584L|SCN5A_ENST00000414099.2_Missense_Mutation_p.R1620L			Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	1638					AV node cell to bundle of His cell communication (GO:0086067)|brainstem development (GO:0003360)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cardiac muscle cell action potential involved in contraction (GO:0086002)|cardiac muscle contraction (GO:0060048)|cardiac ventricle development (GO:0003231)|cellular response to calcium ion (GO:0071277)|cerebellum development (GO:0021549)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane depolarization during SA node cell action potential (GO:0086046)|neuronal action potential (GO:0019228)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of action potential (GO:0045760)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of sodium ion transport (GO:0010765)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of sodium ion transmembrane transport (GO:1902305)|regulation of ventricular cardiac muscle cell membrane depolarization (GO:0060373)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|telencephalon development (GO:0021537)|ventricular cardiac muscle cell action potential (GO:0086005)	caveola (GO:0005901)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	ankyrin binding (GO:0030506)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|fibroblast growth factor binding (GO:0017134)|ion channel binding (GO:0044325)|nitric-oxide synthase binding (GO:0050998)|protein kinase binding (GO:0019901)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)|voltage-gated sodium channel activity (GO:0005248)|voltage-gated sodium channel activity involved in cardiac muscle cell action potential (GO:0086006)			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Ajmaline(DB01426)|Aprindine(DB01429)|Benzonatate(DB00868)|Carbamazepine(DB00564)|Cinchocaine(DB00527)|Cocaine(DB00907)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lidocaine(DB00281)|Mexiletine(DB00379)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine barbiturate(DB01346)|Quinidine(DB00908)|Ranolazine(DB00243)|Riluzole(DB00740)|Tocainide(DB01056)|Valproic Acid(DB00313)|Verapamil(DB00661)|Zonisamide(DB00909)	CTTGGCCCCTCGGATCAGTCT	0.592																																						ENST00000413689.1																			0				NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107						c.(4912-4914)cGa>cTa		sodium channel, voltage-gated, type V, alpha subunit	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)						108	109	109					3																	38592950		2203	4300	6503	SO:0001583	missense	6331				blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity	g.chr3:38592950C>A	AJ310893	CCDS46796.1, CCDS46797.1, CCDS46798.1, CCDS46799.1, CCDS54569.1, CCDS54570.1	3p21	2014-09-17	2007-01-23		ENSG00000183873	ENSG00000183873		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10593	protein-coding gene	gene with protein product	"long QT syndrome 3"	600163	"sodium channel, voltage-gated, type V, alpha (long QT syndrome 3)"	CMD1E		7842012, 15466643, 16382098	Standard	NM_198056		Approved	Nav1.5, LQT3, HB1, HBBD, PFHB1, IVF, HB2, HH1, SSS1, CDCD2, CMPD2, ICCD	uc021wvl.1	Q14524	OTTHUMG00000156166	ENST00000333535.4:c.4913G>T	3.37:g.38592950C>A	ENSP00000328968:p.Arg1638Leu					SCN5A_ENST00000414099.2_Missense_Mutation_p.R1620L|SCN5A_ENST00000451551.2_Missense_Mutation_p.R1584L|SCN5A_ENST00000333535.4_Missense_Mutation_p.R1638L|SCN5A_ENST00000450102.2_Missense_Mutation_p.R1584L|SCN5A_ENST00000449557.2_Missense_Mutation_p.R1584L|SCN5A_ENST00000455624.2_Missense_Mutation_p.R1605L|SCN5A_ENST00000425664.1_Missense_Mutation_p.R1620L|SCN5A_ENST00000423572.2_Missense_Mutation_p.R1637L|SCN5A_ENST00000443581.1_Missense_Mutation_p.R1637L	p.R1638L	NM_001099404.1|NM_001160160.1	NP_001092874.1|NP_001153632.1	Q14524	SCN5A_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	28	5106	-	Medulloblastoma(35;0.163)		1638					A5H1P8|A6N922|A6N923|B2RTU0|E7ET19|E9PEF3|E9PEK2|E9PFW7|Q59H93|Q75RX9|Q75RY0|Q86UR3|Q8IZC9|Q96J69	Missense_Mutation	SNP	ENST00000333535.4	37	c.4913G>T	CCDS46796.1	.	.	.	.	.	.	.	.	.	.	C	18.76	3.693116	0.68271	.	.	ENSG00000183873	ENST00000414099;ENST00000423572;ENST00000413689;ENST00000451551;ENST00000443581;ENST00000425664;ENST00000333535;ENST00000455624;ENST00000450102;ENST00000449557	D;D;D;D;D;D;D;D;D;D	0.98747	-5.11;-5.11;-5.11;-5.11;-5.11;-5.11;-5.11;-5.11;-5.11;-5.11	4.54	4.54	0.55810	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99296	0.9754	H	0.95504	3.68	0.46044	D	0.998831	D;D;D;D;D;D	0.76494	0.995;0.999;0.997;0.979;0.994;0.973	D;D;D;P;D;P	0.85130	0.958;0.997;0.981;0.664;0.955;0.819	D	0.98813	1.0744	10	0.87932	D	0	.	11.0403	0.47827	0.0:0.9149:0.0:0.0851	.	1584;1605;1620;1638;1637;1638	E9PEF3;E9PHB6;E9PG18;Q14524;Q14524-2;E9PEK2	.;.;.;SCN5A_HUMAN;.;.	L	1620;1637;1638;1584;1637;1620;1638;1605;1584;1584	ENSP00000398962:R1620L;ENSP00000398266:R1637L;ENSP00000410257:R1638L;ENSP00000388797:R1584L;ENSP00000397915:R1637L;ENSP00000416634:R1620L;ENSP00000328968:R1638L;ENSP00000399524:R1605L;ENSP00000403355:R1584L;ENSP00000413996:R1584L	ENSP00000328968:R1638L	R	-	2	0	SCN5A	38567954	0.994000	0.37717	0.996000	0.52242	0.981000	0.71138	3.188000	0.50958	2.353000	0.79882	0.561000	0.74099	CGA		0.592	SCN5A-014	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000377958.1	NM_198056		8	158	1	0	0.00307968	1	0.0033064	8	158					A	38592950	C	A	38592950	3	1	228	1	0	0	0	0	1	0	0	0	13922	884	31	5	1141	5	SCN5A	3	38592950	Missense_Mutation	SNP	C	TCGA-HC-8216-01A-11D-A29Q-08	28821578	38592950	159429480	31	10505	55	2									
SCN5A	6331	broad.mit.edu	37	chr3	38592951	38592951	+	Silent	SNP	G	G	T																															gcggatccccttggcccctcGgatcagtctgaggatgcggc																										TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr3:38592951G>T	ENST00000333535.4	-	28	5061	c.4912C>A	c.(4912-4914)Cga>Aga	p.R1638R	SCN5A_ENST00000443581.1_Silent_p.R1637R|SCN5A_ENST00000425664.1_Silent_p.R1620R|SCN5A_ENST00000450102.2_Silent_p.R1584R|SCN5A_ENST00000413689.1_Silent_p.R1638R|SCN5A_ENST00000464652.1_5'Flank|SCN5A_ENST00000451551.2_Silent_p.R1584R|SCN5A_ENST00000423572.2_Silent_p.R1637R|SCN5A_ENST00000455624.2_Silent_p.R1605R|SCN5A_ENST00000449557.2_Silent_p.R1584R|SCN5A_ENST00000414099.2_Silent_p.R1620R			Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	1638					AV node cell to bundle of His cell communication (GO:0086067)|brainstem development (GO:0003360)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cardiac muscle cell action potential involved in contraction (GO:0086002)|cardiac muscle contraction (GO:0060048)|cardiac ventricle development (GO:0003231)|cellular response to calcium ion (GO:0071277)|cerebellum development (GO:0021549)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane depolarization during SA node cell action potential (GO:0086046)|neuronal action potential (GO:0019228)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of action potential (GO:0045760)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of sodium ion transport (GO:0010765)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of sodium ion transmembrane transport (GO:1902305)|regulation of ventricular cardiac muscle cell membrane depolarization (GO:0060373)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|telencephalon development (GO:0021537)|ventricular cardiac muscle cell action potential (GO:0086005)	caveola (GO:0005901)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	ankyrin binding (GO:0030506)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|fibroblast growth factor binding (GO:0017134)|ion channel binding (GO:0044325)|nitric-oxide synthase binding (GO:0050998)|protein kinase binding (GO:0019901)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)|voltage-gated sodium channel activity (GO:0005248)|voltage-gated sodium channel activity involved in cardiac muscle cell action potential (GO:0086006)			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Ajmaline(DB01426)|Aprindine(DB01429)|Benzonatate(DB00868)|Carbamazepine(DB00564)|Cinchocaine(DB00527)|Cocaine(DB00907)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lidocaine(DB00281)|Mexiletine(DB00379)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine barbiturate(DB01346)|Quinidine(DB00908)|Ranolazine(DB00243)|Riluzole(DB00740)|Tocainide(DB01056)|Valproic Acid(DB00313)|Verapamil(DB00661)|Zonisamide(DB00909)	TTGGCCCCTCGGATCAGTCTG	0.587																																						ENST00000413689.1																			0				NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	GRCh37	CM067020	SCN5A	M		c.(4912-4914)Cga>Aga		sodium channel, voltage-gated, type V, alpha subunit	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)						105	106	105					3																	38592951		2203	4300	6503	SO:0001819	synonymous_variant	6331				blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity	g.chr3:38592951G>T	AJ310893	CCDS46796.1, CCDS46797.1, CCDS46798.1, CCDS46799.1, CCDS54569.1, CCDS54570.1	3p21	2014-09-17	2007-01-23		ENSG00000183873	ENSG00000183873		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10593	protein-coding gene	gene with protein product	"long QT syndrome 3"	600163	"sodium channel, voltage-gated, type V, alpha (long QT syndrome 3)"	CMD1E		7842012, 15466643, 16382098	Standard	NM_198056		Approved	Nav1.5, LQT3, HB1, HBBD, PFHB1, IVF, HB2, HH1, SSS1, CDCD2, CMPD2, ICCD	uc021wvl.1	Q14524	OTTHUMG00000156166	ENST00000333535.4:c.4912C>A	3.37:g.38592951G>T						SCN5A_ENST00000414099.2_Silent_p.R1620R|SCN5A_ENST00000451551.2_Silent_p.R1584R|SCN5A_ENST00000333535.4_Silent_p.R1638R|SCN5A_ENST00000450102.2_Silent_p.R1584R|SCN5A_ENST00000449557.2_Silent_p.R1584R|SCN5A_ENST00000455624.2_Silent_p.R1605R|SCN5A_ENST00000425664.1_Silent_p.R1620R|SCN5A_ENST00000423572.2_Silent_p.R1637R|SCN5A_ENST00000443581.1_Silent_p.R1637R	p.R1638R	NM_001099404.1|NM_001160160.1	NP_001092874.1|NP_001153632.1	Q14524	SCN5A_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	28	5105	-	Medulloblastoma(35;0.163)		1638					A5H1P8|A6N922|A6N923|B2RTU0|E7ET19|E9PEF3|E9PEK2|E9PFW7|Q59H93|Q75RX9|Q75RY0|Q86UR3|Q8IZC9|Q96J69	Silent	SNP	ENST00000333535.4	37	c.4912C>A	CCDS46796.1																																																																																				0.587	SCN5A-014	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000377958.1	NM_198056		9	156	1	0	1.12685e-05	1	1.29736e-05	9	156					T	38592951	G	T	38592951	2	4	228	1	0	0	0	0	0	0	0	1	13922	1124	39	5		5	SCN5A	3	38592951	Silent	SNP	G	TCGA-HC-8216-01A-11D-A29Q-08	1	38592951	159429479	32	10506	55	2									
CADPS	8618	broad.mit.edu	37	chr3	62570916	62570916	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acagcaagtttgattttgagAtcttggtcggggcagttttt	8	16	12	5	1	1	2	0	2	1	1	2	3	1	2	0	3	1	4	0	3	1	6			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr3:62570916A>G	ENST00000383710.4	-	8	1870	c.1521T>C	c.(1519-1521)gaT>gaC	p.D507D	CADPS_ENST00000357948.3_Silent_p.D507D|CADPS_ENST00000283269.9_Silent_p.D507D	NM_003716.3	NP_003707.2	Q9ULU8	CAPS1_HUMAN	Ca++-dependent secretion activator	507					catecholamine secretion (GO:0050432)|exocytosis (GO:0006887)|protein transport (GO:0015031)|synaptic vesicle priming (GO:0016082)|vesicle organization (GO:0016050)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|membrane (GO:0016020)|synapse (GO:0045202)	lipid binding (GO:0008289)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)			breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2)	92		Lung SC(41;0.0452)		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)		TGATTTTGAGATCTTGGTCGG	0.468																																						ENST00000383710.4																			0				breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2)	92						c.(1519-1521)gaT>gaC		Ca++-dependent secretion activator							215	203	207					3																	62570916		2203	4300	6503	SO:0001819	synonymous_variant	8618				exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|cytosol|synapse	lipid binding|metal ion binding	g.chr3:62570916A>G	U36448	CCDS2898.1, CCDS2899.1, CCDS46858.1	3p21.1	2013-01-10	2008-08-28		ENSG00000163618	ENSG00000163618		"Pleckstrin homology (PH) domain containing"	1426	protein-coding gene	gene with protein product		604667				1516133	Standard	NM_183393		Approved	CAPS, KIAA1121, CAPS1	uc003dll.2	Q9ULU8	OTTHUMG00000158651	ENST00000383710.4:c.1521T>C	3.37:g.62570916A>G						CADPS_ENST00000283269.9_Silent_p.D507D|CADPS_ENST00000357948.3_Silent_p.D507D	p.D507D	NM_003716.3	NP_003707.2	Q9ULU8	CAPS1_HUMAN		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)	8	1870	-		Lung SC(41;0.0452)	507					A6NF60|Q13339|Q6GQQ6|Q8N2Z5|Q8N3M7|Q8NFR0|Q96BC2	Silent	SNP	ENST00000383710.4	37	c.1521T>C	CCDS46858.1																																																																																				0.468	CADPS-013	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351951.5	NM_003716, NM_183393, NM_183394		6	119	0	0	0	1	0	6	119					G	62570916	A	G	62570916	2	3	228	1	0	0	0	0	0	0	0	1	2570	330	12	4		4	CADPS	3	62570916	Silent	SNP	A	TCGA-HC-8216-01A-11D-A29Q-08	23977965	62570916	135451514	33	10507											
EPHA3	2042	broad.mit.edu	37	chr3	89445000	89445000	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tttacagctccatcacctgtCctgacgattaagaaagatcg	12	11	7	11	2	1	3	1	1	0	2	4	4	3	3	3	0	2	1	3	0	3	3			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr3:89445000C>A	ENST00000336596.2	+	6	1545	c.1320C>A	c.(1318-1320)gtC>gtA	p.V440V	EPHA3_ENST00000494014.1_Silent_p.V440V|EPHA3_ENST00000452448.2_Silent_p.V440V	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN	EPH receptor A3	440	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|cell migration (GO:0016477)|cellular response to retinoic acid (GO:0071300)|ephrin receptor signaling pathway (GO:0048013)|fasciculation of motor neuron axon (GO:0097156)|fasciculation of sensory neuron axon (GO:0097155)|positive regulation of neuron projection development (GO:0010976)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of epithelial to mesenchymal transition (GO:0010717)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule cytoskeleton organization (GO:0070507)|regulation of Rho GTPase activity (GO:0032319)	early endosome (GO:0005769)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|GPI-linked ephrin receptor activity (GO:0005004)			NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		CATCACCTGTCCTGACGATTA	0.463										TSP Lung(6;0.00050)																												ENST00000336596.2																			0				NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139						c.(1318-1320)gtC>gtA		EPH receptor A3							149	143	145					3																	89445000		2203	4300	6503	SO:0001819	synonymous_variant	2042					extracellular region|integral to plasma membrane	ATP binding	g.chr3:89445000C>A	M83941	CCDS2922.1, CCDS46875.1	3p11.2	2013-02-11	2004-10-28		ENSG00000044524	ENSG00000044524	2.7.10.1	"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3387	protein-coding gene	gene with protein product		179611	"EphA3"	ETK, ETK1, TYRO4		1737782, 1311845	Standard	NM_005233		Approved	HEK, HEK4	uc003dqy.3	P29320	OTTHUMG00000159040	ENST00000336596.2:c.1320C>A	3.37:g.89445000C>A		TSP Lung(6;0.00050)				EPHA3_ENST00000494014.1_Silent_p.V440V|EPHA3_ENST00000452448.2_Silent_p.V440V	p.V440V	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)	6	1545	+	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)	440			Fibronectin type-III 2.		Q9H2V3|Q9H2V4	Silent	SNP	ENST00000336596.2	37	c.1320C>A	CCDS2922.1																																																																																				0.463	EPHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352995.1	NM_005233		20	112	1	0	8.34094e-07	1	9.86259e-07	20	112					A	89445000	C	A	89445000	2	1	228	1	0	0	0	0	0	0	0	1	5168	842	30	5		5	EPHA3	3	89445000	Silent	SNP	C	TCGA-HC-8216-01A-11D-A29Q-08	26874084	89445000	108577430	34	10508											
MORC1	27136	broad.mit.edu	37	chr3	108754263	108754263	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tttaaaggtttctccacatcGatgtcattctggtatccaaa	11	15	6	9	1	3	0	1	0	2	0	6	1	4	0	2	2	0	2	2	2	4	5			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr3:108754263G>A	ENST00000483760.1	-	15	1426	c.1383C>T	c.(1381-1383)atC>atT	p.I461I	MORC1_ENST00000232603.5_Silent_p.I461I					MORC family CW-type zinc finger 1											breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						TCTCCACATCGATGTCATTCT	0.289																																						ENST00000232603.5																			0				breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						c.(1381-1383)atC>atT		MORC family CW-type zinc finger 1							95	91	92					3																	108754263		2203	4300	6503	SO:0001819	synonymous_variant	27136				cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding	g.chr3:108754263G>A	AF084946	CCDS2955.1	3q13	2011-10-26	2005-06-15	2005-06-15	ENSG00000114487	ENSG00000114487			7198	protein-coding gene	gene with protein product	"cancer/testis antigen 33"	603205	"microrchidia (mouse) homolog", "microrchidia homolog (mouse)"	MORC		10369865	Standard	NM_014429		Approved	ZCW6, CT33	uc003dxl.3	Q86VD1	OTTHUMG00000159209	ENST00000483760.1:c.1383C>T	3.37:g.108754263G>A						MORC1_ENST00000483760.1_Silent_p.I461I	p.I461I	NM_014429.3	NP_055244.3	Q86VD1	MORC1_HUMAN			15	1465	-			461						Silent	SNP	ENST00000483760.1	37	c.1383C>T																																																																																					0.289	MORC1-002	NOVEL	basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000353844.1			6	22	0	0	0	1	0	6	22					A	108754263	G	A	108754263	2	1	228	1	0	0	0	0	0	0	0	1	9701	1048	37	2		2	MORC1	3	108754263	Silent	SNP	G	TCGA-HC-8216-01A-11D-A29Q-08	19309263	108754263	89268167	35	10509											
CD200R1	131450	broad.mit.edu	37	chr3	112648324	112648324	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggcaacaaagcacagcatttGtagccatctttacaggccat	13	9	8	11	0	1	0	0	0	1	0	1	0	1	0	2	2	5	4	2	2	4	4			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr3:112648324G>T	ENST00000471858.1	-	3	396	c.164C>A	c.(163-165)aCa>aAa	p.T55K	CD200R1_ENST00000308611.3_Missense_Mutation_p.T78K|CD200R1_ENST00000440122.2_Missense_Mutation_p.T78K|CD200R1_ENST00000490004.1_Missense_Mutation_p.T55K|CD200R1_ENST00000295863.4_Missense_Mutation_p.T33K	NM_170780.2	NP_740750.1	Q8TD46	MO2R1_HUMAN	CD200 receptor 1	55	Ig-like V-type.				regulation of immune response (GO:0050776)|viral process (GO:0016032)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	26						CACAGCATTTGTAGCCATCTT	0.383																																						ENST00000471858.1																			0				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	26						c.(163-165)aCa>aAa		CD200 receptor 1							83	80	81					3																	112648324		2203	4300	6503	SO:0001583	missense	131450				interspecies interaction between organisms|regulation of immune response	extracellular region|integral to membrane|plasma membrane	receptor activity	g.chr3:112648324G>T	AK126349	CCDS2969.1, CCDS2970.1, CCDS46889.1, CCDS54623.1	3q13	2014-05-15	2004-08-31	2004-09-01	ENSG00000163606	ENSG00000163606		"Immunoglobulin superfamily / C2-set domain containing"	24235	protein-coding gene	gene with protein product		607546	"MOX2 receptor"	MOX2R		10981966, 11133863	Standard	NM_138806		Approved	OX2R, HCRTR2, CD200R	uc003dzj.1	Q8TD46	OTTHUMG00000159298	ENST00000471858.1:c.164C>A	3.37:g.112648324G>T	ENSP00000418928:p.Thr55Lys					CD200R1_ENST00000295863.4_Missense_Mutation_p.T33K|CD200R1_ENST00000490004.1_Missense_Mutation_p.T55K|CD200R1_ENST00000308611.3_Missense_Mutation_p.T78K|CD200R1_ENST00000440122.2_Missense_Mutation_p.T78K	p.T55K	NM_170780.2	NP_740750.1	Q8TD46	MO2R1_HUMAN			3	396	-			55			Ig-like V-type.		B3KWZ9|E9PCM9|Q52LJ7|Q6IS95|Q6UW94|Q6WHB8|Q8TD44|Q8TD45|Q8TD52	Missense_Mutation	SNP	ENST00000471858.1	37	c.164C>A	CCDS2970.1	.	.	.	.	.	.	.	.	.	.	G	7.000	0.554600	0.13436	.	.	ENSG00000163606	ENST00000471858;ENST00000308611;ENST00000295863;ENST00000440122;ENST00000490004	T;T;T;T;T	0.28454	1.61;1.61;1.61;1.61;1.61	5.5	-1.05	0.10036	Immunoglobulin subtype (1);	0.685163	0.14450	N	0.318866	T	0.22044	0.0531	L	0.37750	1.13	0.09310	N	1	B;B;B;B;B	0.17268	0.021;0.001;0.001;0.001;0.001	B;B;B;B;B	0.18871	0.023;0.004;0.004;0.002;0.004	T	0.21552	-1.0242	10	0.23891	T	0.37	.	12.0879	0.53708	0.0:0.0983:0.4435:0.4582	.	33;55;78;55;78	B4E2U2;Q8TD46-3;Q8TD46-2;Q8TD46;Q8TD46-4	.;.;.;MO2R1_HUMAN;.	K	55;78;33;78;55	ENSP00000418928:T55K;ENSP00000311035:T78K;ENSP00000295863:T33K;ENSP00000405733:T78K;ENSP00000418801:T55K	ENSP00000295863:T33K	T	-	2	0	CD200R1	114131014	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.057000	0.14279	-0.715000	0.04968	-2.906000	0.00092	ACA		0.383	CD200R1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354467.1	NM_138806		4	93	1	0	0.000602214	1	0.000658672	4	93					T	112648324	G	T	112648324	3	4	228	1	0	0	0	0	1	0	0	0	2981	1377	48	5	880	5	CD200R1	3	112648324	Missense_Mutation	SNP	G	TCGA-HC-8216-01A-11D-A29Q-08	3894061	112648324	85374106	36	10510											
PLXNA1	5361	broad.mit.edu	37	chr3	126748316	126748316	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcggtggcactggtgcccAagcagacgtccgcctacaac	8	6	11	16	3	0	1	0	0	0	1	2	1	1	1	4	3	4	2	4	3	3	1			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr3:126748316A>G	ENST00000393409.2	+	26	4807	c.4807A>G	c.(4807-4809)Aag>Gag	p.K1603E	PLXNA1_ENST00000251772.4_Missense_Mutation_p.K1580E	NM_032242.3	NP_115618.3	Q9UIW2	PLXA1_HUMAN	plexin A1	1603					axon guidance (GO:0007411)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|multicellular organismal development (GO:0007275)|regulation of smooth muscle cell migration (GO:0014910)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	receptor activity (GO:0004872)|semaphorin receptor activity (GO:0017154)			breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67				GBM - Glioblastoma multiforme(114;0.155)		ACTGGTGCCCAAGCAGACGTC	0.667																																						ENST00000393409.2																			0				breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67						c.(4807-4809)Aag>Gag		plexin A1							131	125	127					3																	126748316		2203	4300	6503	SO:0001583	missense	5361				axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity	g.chr3:126748316A>G	X87832	CCDS33847.1, CCDS33847.2	3q21.2	2006-12-19				ENSG00000114554		"Plexins"	9099	protein-coding gene	gene with protein product		601055		PLXN1		8570614	Standard	NM_032242		Approved	NOV	uc003ejg.3	Q9UIW2		ENST00000393409.2:c.4807A>G	3.37:g.126748316A>G	ENSP00000377061:p.Lys1603Glu					PLXNA1_ENST00000251772.4_Missense_Mutation_p.K1580E	p.K1603E	NM_032242.3	NP_115618.3	Q9UIW2	PLXA1_HUMAN		GBM - Glioblastoma multiforme(114;0.155)	26	4807	+			1603						Missense_Mutation	SNP	ENST00000393409.2	37	c.4807A>G	CCDS33847.2	.	.	.	.	.	.	.	.	.	.	A	26.3	4.724071	0.89298	.	.	ENSG00000114554	ENST00000393409;ENST00000251772	T;T	0.12465	2.68;2.68	3.91	3.91	0.45181	Plexin, cytoplasmic RasGAP domain (1);Rho GTPase activation protein (1);	0.000000	0.64402	D	0.000004	T	0.41465	0.1160	M	0.87180	2.865	0.80722	D	1	P;D	0.76494	0.945;0.999	P;D	0.87578	0.854;0.998	T	0.50224	-0.8853	10	0.72032	D	0.01	.	13.2148	0.59854	1.0:0.0:0.0:0.0	.	217;1603	Q6ZTY7;Q9UIW2	.;PLXA1_HUMAN	E	1603;1580	ENSP00000377061:K1603E;ENSP00000251772:K1580E	ENSP00000251772:K1580E	K	+	1	0	PLXNA1	128231006	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	9.066000	0.93949	1.767000	0.52121	0.383000	0.25322	AAG		0.667	PLXNA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356451.1	NM_032242		11	178	0	0	0	1	0	11	178					G	126748316	A	G	126748316	3	3	228	1	0	0	0	0	1	0	0	0	12119	131	5	4	4909	4	PLXNA1	3	126748316	Missense_Mutation	SNP	A	TCGA-HC-8216-01A-11D-A29Q-08	14099992	126748316	71274114	37	10511											
ATP11B	23200	broad.mit.edu	37	chr3	182586927	182586927	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggagaatgagtgtaattgttCaggcaccttcaggtaaccaa	13	10	11	7	0	2	2	2	1	0	1	2	3	2	2	2	3	1	4	2	3	4	5			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr3:182586927C>T	ENST00000323116.5	+	16	2010	c.1750C>T	c.(1750-1752)Cag>Tag	p.Q584*		NM_014616.2	NP_055431.1	Q9Y2G3	AT11B_HUMAN	ATPase, class VI, type 11B	584					aminophospholipid transport (GO:0015917)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|phospholipid translocation (GO:0045332)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear inner membrane (GO:0005637)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|ion transmembrane transporter activity (GO:0015075)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			breast(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|liver(2)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	41	all_cancers(143;9.04e-15)|Ovarian(172;0.0355)		all cancers(12;1.2e-42)|Epithelial(37;2.77e-36)|LUSC - Lung squamous cell carcinoma(7;7.58e-24)|Lung(8;4.66e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.35e-20)			TGTAATTGTTCAGGCACCTTC	0.299																																						ENST00000323116.5																			0				breast(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|liver(2)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	41						c.(1750-1752)Cag>Tag		ATPase, class VI, type 11B							70	73	72					3																	182586927		2203	4294	6497	SO:0001587	stop_gained	23200				aminophospholipid transport|ATP biosynthetic process	integral to membrane|nuclear inner membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr3:182586927C>T	AF156548	CCDS33896.1	3q27	2010-04-20	2007-09-19		ENSG00000058063	ENSG00000058063		"ATPases / P-type"	13553	protein-coding gene	gene with protein product		605869	"ATPase, Class VI, type 11B"			10231032, 11015572	Standard	NM_014616		Approved	ATPIF, ATPIR, KIAA0956	uc003flb.3	Q9Y2G3	OTTHUMG00000158295	ENST00000323116.5:c.1750C>T	3.37:g.182586927C>T	ENSP00000321195:p.Gln584*						p.Q584*	NM_014616.2	NP_055431.1	Q9Y2G3	AT11B_HUMAN	all cancers(12;1.2e-42)|Epithelial(37;2.77e-36)|LUSC - Lung squamous cell carcinoma(7;7.58e-24)|Lung(8;4.66e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.35e-20)		16	2010	+	all_cancers(143;9.04e-15)|Ovarian(172;0.0355)		584					Q96FN1|Q9UKK7	Nonsense_Mutation	SNP	ENST00000323116.5	37	c.1750C>T	CCDS33896.1	.	.	.	.	.	.	.	.	.	.	C	41	8.976178	0.99023	.	.	ENSG00000058063	ENST00000323116	.	.	.	5.9	3.96	0.45880	.	0.239759	0.43747	D	0.000535	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.20046	T	0.44	.	14.9527	0.71086	0.0:0.4944:0.5056:0.0	.	.	.	.	X	584	.	ENSP00000321195:Q584X	Q	+	1	0	ATP11B	184069621	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.903000	0.39858	1.445000	0.47624	0.650000	0.86243	CAG		0.299	ATP11B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350598.1	NM_014616		3	29	0	0	0	1	0	3	29					T	182586927	C	T	182586927	4	4	228	1	0	0	0	0	0	1	0	0	1120	827	29	3	1812	3	ATP11B	3	182586927	Nonsense_Mutation	SNP	C	TCGA-HC-8216-01A-11D-A29Q-08	55838611	182586927	15435503	38	10512											
ATP11B	23200	broad.mit.edu	37	chr3	182587059	182587059	+	Silent	SNP	C	C	T																															ggagctgagtcatcaattctCcctaaatgtataggtggaga																										TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr3:182587059C>T	ENST00000323116.5	+	17	2066	c.1806C>T	c.(1804-1806)ctC>ctT	p.L602L		NM_014616.2	NP_055431.1	Q9Y2G3	AT11B_HUMAN	ATPase, class VI, type 11B	602					aminophospholipid transport (GO:0015917)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|phospholipid translocation (GO:0045332)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear inner membrane (GO:0005637)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|ion transmembrane transporter activity (GO:0015075)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			breast(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|liver(2)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	41	all_cancers(143;9.04e-15)|Ovarian(172;0.0355)		all cancers(12;1.2e-42)|Epithelial(37;2.77e-36)|LUSC - Lung squamous cell carcinoma(7;7.58e-24)|Lung(8;4.66e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.35e-20)			CATCAATTCTCCCTAAATGTA	0.284																																						ENST00000323116.5																			0				breast(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|liver(2)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	41						c.(1804-1806)ctC>ctT		ATPase, class VI, type 11B							39	40	40					3																	182587059		2201	4290	6491	SO:0001819	synonymous_variant	23200				aminophospholipid transport|ATP biosynthetic process	integral to membrane|nuclear inner membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr3:182587059C>T	AF156548	CCDS33896.1	3q27	2010-04-20	2007-09-19		ENSG00000058063	ENSG00000058063		"ATPases / P-type"	13553	protein-coding gene	gene with protein product		605869	"ATPase, Class VI, type 11B"			10231032, 11015572	Standard	NM_014616		Approved	ATPIF, ATPIR, KIAA0956	uc003flb.3	Q9Y2G3	OTTHUMG00000158295	ENST00000323116.5:c.1806C>T	3.37:g.182587059C>T							p.L602L	NM_014616.2	NP_055431.1	Q9Y2G3	AT11B_HUMAN	all cancers(12;1.2e-42)|Epithelial(37;2.77e-36)|LUSC - Lung squamous cell carcinoma(7;7.58e-24)|Lung(8;4.66e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.35e-20)		17	2066	+	all_cancers(143;9.04e-15)|Ovarian(172;0.0355)		602					Q96FN1|Q9UKK7	Silent	SNP	ENST00000323116.5	37	c.1806C>T	CCDS33896.1	.	.	.	.	.	.	.	.	.	.	C	8.354	0.831658	0.16820	.	.	ENSG00000058063	ENST00000498086	.	.	.	5.63	-3.28	0.05033	.	.	.	.	.	T	0.63546	0.2520	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.62950	-0.6745	4	.	.	.	.	13.9691	0.64228	0.0:0.1615:0.0:0.8385	.	.	.	.	F	403	.	.	S	+	2	0	ATP11B	184069753	0.428000	0.25522	0.856000	0.33681	0.939000	0.58152	-0.419000	0.07071	-0.499000	0.06623	-0.355000	0.07637	TCC		0.284	ATP11B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350598.1	NM_014616		4	20	0	0	0	1	0	4	20					T	182587059	C	T	182587059	2	4	228	1	0	0	0	0	0	0	0	1	1120	842	30	3		3	ATP11B	3	182587059	Silent	SNP	C	TCGA-HC-8216-01A-11D-A29Q-08	132	182587059	15435371	39	10513	56	2									
ATP11B	23200	broad.mit.edu	37	chr3	182587060	182587060	+	Missense_Mutation	SNP	C	C	T																															gagctgagtcatcaattctcCctaaatgtataggtggagaa																										TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr3:182587060C>T	ENST00000323116.5	+	17	2067	c.1807C>T	c.(1807-1809)Cct>Tct	p.P603S		NM_014616.2	NP_055431.1	Q9Y2G3	AT11B_HUMAN	ATPase, class VI, type 11B	603					aminophospholipid transport (GO:0015917)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|phospholipid translocation (GO:0045332)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear inner membrane (GO:0005637)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|ion transmembrane transporter activity (GO:0015075)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			breast(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|liver(2)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	41	all_cancers(143;9.04e-15)|Ovarian(172;0.0355)		all cancers(12;1.2e-42)|Epithelial(37;2.77e-36)|LUSC - Lung squamous cell carcinoma(7;7.58e-24)|Lung(8;4.66e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.35e-20)			ATCAATTCTCCCTAAATGTAT	0.284																																						ENST00000323116.5																			0				breast(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|liver(2)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	41						c.(1807-1809)Cct>Tct		ATPase, class VI, type 11B							39	39	39					3																	182587060		2201	4290	6491	SO:0001583	missense	23200				aminophospholipid transport|ATP biosynthetic process	integral to membrane|nuclear inner membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr3:182587060C>T	AF156548	CCDS33896.1	3q27	2010-04-20	2007-09-19		ENSG00000058063	ENSG00000058063		"ATPases / P-type"	13553	protein-coding gene	gene with protein product		605869	"ATPase, Class VI, type 11B"			10231032, 11015572	Standard	NM_014616		Approved	ATPIF, ATPIR, KIAA0956	uc003flb.3	Q9Y2G3	OTTHUMG00000158295	ENST00000323116.5:c.1807C>T	3.37:g.182587060C>T	ENSP00000321195:p.Pro603Ser						p.P603S	NM_014616.2	NP_055431.1	Q9Y2G3	AT11B_HUMAN	all cancers(12;1.2e-42)|Epithelial(37;2.77e-36)|LUSC - Lung squamous cell carcinoma(7;7.58e-24)|Lung(8;4.66e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.35e-20)		17	2067	+	all_cancers(143;9.04e-15)|Ovarian(172;0.0355)		603					Q96FN1|Q9UKK7	Missense_Mutation	SNP	ENST00000323116.5	37	c.1807C>T	CCDS33896.1	.	.	.	.	.	.	.	.	.	.	C	19.09	3.759807	0.69763	.	.	ENSG00000058063	ENST00000323116	T	0.69561	-0.41	5.63	4.76	0.60689	ATPase, cation-transporting, domain N (1);HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	0.162432	0.56097	N	0.000027	T	0.68650	0.3024	L	0.28776	0.89	0.80722	D	1	D;P	0.59767	0.986;0.87	P;P	0.62184	0.899;0.633	T	0.71148	-0.4677	10	0.66056	D	0.02	.	10.6604	0.45698	0.0:0.8545:0.0:0.1455	.	177;603	B3KSJ2;Q9Y2G3	.;AT11B_HUMAN	S	603	ENSP00000321195:P603S	ENSP00000321195:P603S	P	+	1	0	ATP11B	184069754	1.000000	0.71417	0.889000	0.34880	0.936000	0.57629	6.091000	0.71406	1.389000	0.46526	-0.142000	0.14014	CCT		0.284	ATP11B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350598.1	NM_014616		4	21	0	0	0	1	0	4	21					T	182587060	C	T	182587060	3	4	228	1	0	0	0	0	1	0	0	0	1120	623	22	3	1873	3	ATP11B	3	182587060	Missense_Mutation	SNP	C	TCGA-HC-8216-01A-11D-A29Q-08	1	182587060	15435370	40	10514	56	2									
ABCC5	10057	broad.mit.edu	37	chr3	183669276	183669276	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgagaatcctccctgtggggGtcgtgtcaaaaaacttcata	11	11	10	9	1	2	1	2	1	0	1	5	2	4	1	2	2	1	0	2	2	5	2	rs199959386		TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr3:183669276G>A	ENST00000334444.6	-	20	3137	c.2897C>T	c.(2896-2898)aCc>aTc	p.T966I	ABCC5_ENST00000265586.6_Missense_Mutation_p.T966I	NM_005688.2	NP_005679.2	O15440	MRP5_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 5	966	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.				carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan biosynthetic process (GO:0030213)|hyaluronan metabolic process (GO:0030212)|organic anion transport (GO:0015711)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)		Adefovir Dipivoxil(DB00718)|Alprostadil(DB00770)|Atorvastatin(DB01076)|Cisplatin(DB00515)|Dinoprostone(DB00917)|Dipyridamole(DB00975)|Fluorouracil(DB00544)|Glutathione(DB00143)|Mercaptopurine(DB01033)|Probenecid(DB01032)|Rifampicin(DB01045)|Sildenafil(DB00203)|Sulfinpyrazone(DB01138)|Zidovudine(DB00495)	CCCTGTGGGGGTCGTGTCAAA	0.512																																						ENST00000334444.6																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						c.(2896-2898)aCc>aTc		ATP-binding cassette, sub-family C (CFTR/MRP), member 5							76	78	77					3																	183669276		1913	4150	6063	SO:0001583	missense	10057					integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity	g.chr3:183669276G>A	AF104942	CCDS33898.1, CCDS43176.1	3q27	2012-03-14			ENSG00000114770	ENSG00000114770		"ATP binding cassette transporters / subfamily C"	56	protein-coding gene	gene with protein product		605251				8894702, 9827529	Standard	XM_005247058		Approved	MRP5, SMRP, EST277145, MOAT-C	uc003fmg.3	O15440	OTTHUMG00000156871	ENST00000334444.6:c.2897C>T	3.37:g.183669276G>A	ENSP00000333926:p.Thr966Ile					ABCC5_ENST00000265586.6_Missense_Mutation_p.T966I	p.T966I	NM_005688.2	NP_005679.2	O15440	MRP5_HUMAN	Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)		20	3137	-	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		966			ABC transmembrane type-1 2.		B9EIQ2|O14517|Q29ZA9|Q29ZB1|Q86UX3|Q86W30|Q9UN85|Q9UNP5|Q9UQC3	Missense_Mutation	SNP	ENST00000334444.6	37	c.2897C>T	CCDS43176.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.030475	0.75504	.	.	ENSG00000114770	ENST00000334444;ENST00000265586	D;D	0.90133	-2.62;-2.62	6.11	5.22	0.72569	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.093893	0.64402	D	0.000001	D	0.96880	0.8981	H	0.95850	3.73	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.75484	0.986;0.983	D	0.97578	1.0109	10	0.49607	T	0.09	-33.6669	16.7376	0.85451	0.0:0.0:0.8696:0.1304	.	966;966	Q86UX3;O15440	.;MRP5_HUMAN	I	966	ENSP00000333926:T966I;ENSP00000265586:T966I	ENSP00000265586:T966I	T	-	2	0	ABCC5	185151970	1.000000	0.71417	0.982000	0.44146	0.646000	0.38490	9.603000	0.98315	1.560000	0.49568	0.655000	0.94253	ACC		0.512	ABCC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346350.1	NM_005688		5	93	0	0	0	1	0	5	93					A	183669276	G	A	183669276	3	1	228	1	0	0	0	0	1	0	0	0	56	1261	44	3	1460	3	ABCC5	3	183669276	Missense_Mutation	SNP	G	TCGA-HC-8216-01A-11D-A29Q-08	1082216	183669276	14353154	41	10515											
UGT2B11	10720	broad.mit.edu	37	chr4	70074167	70074167	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agaaaacaccacaacaccatTttctccagagctctgtacaa	16	8	4	13	0	2	2	0	0	2	2	3	2	2	2	3	0	4	2	3	0	5	3			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr4:70074167T>A	ENST00000446444.1	-	3	912	c.904A>T	c.(904-906)Aat>Tat	p.N302Y	RP11-704M14.1_ENST00000504301.1_RNA|RP11-704M14.1_ENST00000505646.1_RNA	NM_001073.1	NP_001064.1	O75310	UDB11_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B11	302					estrogen metabolic process (GO:0008210)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	42						ACAACACCATTTTCTCCAGAG	0.423																																						ENST00000446444.1																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	42						c.(904-906)Aat>Tat		UDP glucuronosyltransferase 2 family, polypeptide B11							150	150	150					4																	70074167		2203	4300	6503	SO:0001583	missense	10720				estrogen metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	g.chr4:70074167T>A	AF016492	CCDS3527.1	4q13.3	2008-02-05	2005-07-20		ENSG00000213759	ENSG00000213759		"UDP glucuronosyltransferases"	12545	protein-coding gene	gene with protein product		603064	"UDP glycosyltransferase 2 family, polypeptide B11"			9675083	Standard	NM_001073		Approved		uc003heh.3	O75310	OTTHUMG00000129395	ENST00000446444.1:c.904A>T	4.37:g.70074167T>A	ENSP00000387683:p.Asn302Tyr					RP11-704M14.1_ENST00000505646.1_RNA|RP11-704M14.1_ENST00000504301.1_RNA	p.N302Y	NM_001073.1	NP_001064.1	O75310	UDB11_HUMAN			3	912	-			302					Q3KNV9	Missense_Mutation	SNP	ENST00000446444.1	37	c.904A>T	CCDS3527.1	.	.	.	.	.	.	.	.	.	.	-	0.912	-0.718639	0.03182	.	.	ENSG00000213759	ENST00000446444	T	0.62941	-0.01	1.96	-3.91	0.04168	.	0.240698	0.31797	U	0.007043	T	0.58807	0.2148	M	0.87900	2.915	0.19775	N	0.999957	B	0.06786	0.001	B	0.12156	0.007	T	0.54768	-0.8244	10	0.72032	D	0.01	.	7.2958	0.26393	0.0:0.152:0.6516:0.1964	.	302	O75310	UDB11_HUMAN	Y	302	ENSP00000387683:N302Y	ENSP00000387683:N302Y	N	-	1	0	UGT2B11	70108756	0.853000	0.29707	0.757000	0.31301	0.089000	0.18198	0.231000	0.17872	-1.122000	0.02945	0.155000	0.16302	AAT		0.423	UGT2B11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251551.2	NM_001073		12	177	0	0	0	1	0	12	177					A	70074167	T	A	70074167	3	1	228	1	0	0	0	0	1	0	0	0	16954	1841	64	5	701	5	UGT2B11	4	70074167	Missense_Mutation	SNP	T	TCGA-HC-8216-01A-11D-A29Q-08		70074167	121080109	42	10516											
ZFP42	132625	broad.mit.edu	37	chr4	188924707	188924707	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gaagccgtttcggtgcacttTtgaagggtgcggaaagcgct	8	10	15	8	4	0	1	0	1	0	0	1	3	0	2	1	3	4	3	1	3	3	3			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr4:188924707T>G	ENST00000326866.4	+	4	1154	c.746T>G	c.(745-747)tTt>tGt	p.F249C	ZFP42_ENST00000509524.1_Missense_Mutation_p.F249C	NM_174900.3	NP_777560.2	Q96MM3	ZFP42_HUMAN	ZFP42 zinc finger protein	249					female gonad development (GO:0008585)|in utero embryonic development (GO:0001701)|male gonad development (GO:0008584)|meiotic nuclear division (GO:0007126)|regulation of genetic imprinting (GO:2000653)|spermatid development (GO:0007286)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|protein complex (GO:0043234)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|stomach(1)	27		all_cancers(14;6.2e-52)|all_epithelial(14;7.36e-37)|all_lung(41;2.29e-15)|Lung NSC(41;6.7e-15)|Breast(6;1.53e-05)|Melanoma(20;3.01e-05)|Hepatocellular(41;0.00335)|all_hematologic(60;0.014)|Renal(120;0.0183)|Prostate(90;0.0421)|Colorectal(36;0.227)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;4.21e-06)|GBM - Glioblastoma multiforme(59;8.93e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.157)		CGGTGCACTTTTGAAGGGTGC	0.517																																						ENST00000326866.4																			0				breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|stomach(1)	27						c.(745-747)tTt>tGt		ZFP42 zinc finger protein							82	85	84					4																	188924707		2203	4300	6503	SO:0001583	missense	132625				female gonad development|male gonad development|meiosis	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr4:188924707T>G	AK056719	CCDS3849.1	4q35.2	2014-09-04	2012-11-27		ENSG00000179059	ENSG00000179059		"Zinc fingers, C2H2-type"	30949	protein-coding gene	gene with protein product		614572	"zinc finger protein 42 homolog (mouse)", "zinc finger protein 42"			12110702	Standard	NM_174900		Approved	REX1, ZNF754	uc003izh.1	Q96MM3	OTTHUMG00000160235	ENST00000326866.4:c.746T>G	4.37:g.188924707T>G	ENSP00000317686:p.Phe249Cys					ZFP42_ENST00000509524.1_Missense_Mutation_p.F249C	p.F249C	NM_174900.3	NP_777560.2	Q96MM3	ZFP42_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;4.21e-06)|GBM - Glioblastoma multiforme(59;8.93e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.157)	4	1154	+		all_cancers(14;6.2e-52)|all_epithelial(14;7.36e-37)|all_lung(41;2.29e-15)|Lung NSC(41;6.7e-15)|Breast(6;1.53e-05)|Melanoma(20;3.01e-05)|Hepatocellular(41;0.00335)|all_hematologic(60;0.014)|Renal(120;0.0183)|Prostate(90;0.0421)|Colorectal(36;0.227)	249					D3DP65|Q8WXE2	Missense_Mutation	SNP	ENST00000326866.4	37	c.746T>G	CCDS3849.1	.	.	.	.	.	.	.	.	.	.	T	12.92	2.082261	0.36758	.	.	ENSG00000179059	ENST00000326866;ENST00000509524	T;T	0.47869	0.83;0.83	4.39	1.81	0.25067	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.56978	0.2022	L	0.49640	1.575	0.35004	D	0.756206	D	0.89917	1.0	D	0.77557	0.99	T	0.64347	-0.6429	10	0.62326	D	0.03	.	8.2353	0.31622	0.3165:0.0:0.0:0.6834	.	249	Q96MM3	ZFP42_HUMAN	C	249	ENSP00000317686:F249C;ENSP00000424662:F249C	ENSP00000317686:F249C	F	+	2	0	ZFP42	189161701	1.000000	0.71417	0.015000	0.15790	0.011000	0.07611	4.762000	0.62250	0.396000	0.25283	0.533000	0.62120	TTT		0.517	ZFP42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359794.1	NM_174900		13	59	0	0	0	1	0	13	59					G	188924707	T	G	188924707	3	3	228	1	0	0	0	0	1	0	0	0	17647	1841	64	5	748	5	ZFP42	4	188924707	Missense_Mutation	SNP	T	TCGA-HC-8216-01A-11D-A29Q-08	118850540	188924707	2229569	43	10517											
AHRR	57491	broad.mit.edu	37	chr5	427996	427996	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgtcaggagccatgctcccGccgcggctgtcgctgttctg	3	9	13	16	5	2	0	1	0	1	0	4	1	3	1	4	2	2	4	4	2	0	1			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr5:427996G>A	ENST00000505113.1	+	8	839	c.795G>A	c.(793-795)ccG>ccA	p.P265P	AHRR_ENST00000506456.1_Silent_p.P121P|AHRR_ENST00000512529.1_Silent_p.P111P|AHRR_ENST00000316418.5_Silent_p.P283P	NM_001242412.1	NP_001229341.1	A9YTQ3	AHRR_HUMAN	aryl-hydrocarbon receptor repressor	265					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of protein sumoylation (GO:0033235)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|signal transducer activity (GO:0004871)			breast(2)|endometrium(4)|large_intestine(1)|lung(12)|prostate(1)	20			Epithelial(17;0.0011)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00354)|Lung(60;0.0863)			CCATGCTCCCGCCGCGGCTGT	0.557																																						ENST00000316418.5																			0				breast(2)|endometrium(4)|large_intestine(1)|lung(12)|prostate(1)	20						c.(847-849)ccG>ccA		aryl-hydrocarbon receptor repressor							24	28	27					5																	427996		1893	4106	5999	SO:0001819	synonymous_variant	57491				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity	g.chr5:427996G>A	AB033060	CCDS43297.1, CCDS56355.1	5p15.33	2013-05-21	2003-09-11	2003-09-12	ENSG00000063438	ENSG00000063438		"Basic helix-loop-helix proteins"	346	protein-coding gene	gene with protein product		606517	"aryl hydrocarbon receptor regulator"	AHH, AHHR		1070014, 11423533	Standard	NM_020731		Approved	KIAA1234, bHLHe77	uc003jaw.3	A9YTQ3	OTTHUMG00000162171	ENST00000505113.1:c.795G>A	5.37:g.427996G>A						AHRR_ENST00000505113.1_Silent_p.P265P|AHRR_ENST00000506456.1_Silent_p.P121P|AHRR_ENST00000512529.1_Silent_p.P111P	p.P283P	NM_020731.4	NP_065782.2	A9YTQ3	AHRR_HUMAN	Epithelial(17;0.0011)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00354)|Lung(60;0.0863)		9	893	+			265					A7MBN5|D6RAZ1|Q9HAZ3|Q9ULI6	Silent	SNP	ENST00000505113.1	37	c.849G>A	CCDS56355.1																																																																																				0.557	AHRR-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000367720.1	NM_020731		14	36	0	0	0	1	0	14	36					A	427996	G	A	427996	2	1	228	1	0	0	0	0	0	0	0	1	417	1074	38	1		1	AHRR	5	427996	Silent	SNP	G	TCGA-HC-8216-01A-11D-A29Q-08		427996	180487264	44	10518											
GPR98	84059	broad.mit.edu	37	chr5	89933655	89933655	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccggatgatataggccccttTaatggctctgttttgttttt	6	18	9	8	1	1	1	0	1	1	0	1	2	1	2	3	3	0	3	3	3	3	8			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr5:89933655T>C	ENST00000405460.2	+	11	2226	c.2130T>C	c.(2128-2130)ttT>ttC	p.F710F		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	710	Calx-beta 5. {ECO:0000305|PubMed:11606593}.				detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TAGGCCCCTTTAATGGCTCTG	0.423																																						ENST00000405460.2																			0				NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269						c.(2128-2130)ttT>ttC		G protein-coupled receptor 98							81	75	77					5																	89933655		1830	4085	5915	SO:0001819	synonymous_variant	84059				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr5:89933655T>C	AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"-", "GPCR / Class B : Orphans"	17416	protein-coding gene	gene with protein product		602851	"monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.2130T>C	5.37:g.89933655T>C							p.F710F	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)	11	2226	+		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)	710			Calx-beta 5.		O75171|Q8TF58|Q9H0X5|Q9UL61	Silent	SNP	ENST00000405460.2	37	c.2130T>C	CCDS47246.1	.	.	.	.	.	.	.	.	.	.	T	10.61	1.399449	0.25291	.	.	ENSG00000164199	ENST00000504142	.	.	.	5.46	1.76	0.24704	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.9505	0.35785	0.0:0.2143:0.0:0.7857	.	.	.	.	Q	299	.	.	X	+	1	0	GPR98	89969411	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	0.775000	0.26689	0.351000	0.24027	0.528000	0.53228	TAA		0.423	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2	NM_032119		4	41	0	0	0	1	0	4	41					C	89933655	T	C	89933655	2	2	228	1	0	0	0	0	0	0	0	1	6721	1751	61	4		4	GPR98	5	89933655	Silent	SNP	T	TCGA-HC-8216-01A-11D-A29Q-08	89505659	89933655	90981605	45	10519											
IL9	3578	broad.mit.edu	37	chr5	135228145	135228145	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttccagaagactcttcagaaAtgtcagcgcgttgcctgccg	9	10	10	12	3	3	3	2	0	1	3	4	3	4	3	3	0	3	1	3	0	2	3			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr5:135228145A>G	ENST00000274520.1	-	5	380	c.370T>C	c.(370-372)Ttt>Ctt	p.F124L		NM_000590.1	NP_000581.1	P15248	IL9_HUMAN	interleukin 9	124					immune response (GO:0006955)|inflammatory response (GO:0006954)|positive regulation of cell growth (GO:0030307)|positive regulation of cell proliferation (GO:0008284)|positive regulation of interleukin-5 biosynthetic process (GO:0045407)	extracellular space (GO:0005615)				large_intestine(3)|lung(2)|pancreas(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			CTCTTCAGAAATGTCAGCGCG	0.378																																						ENST00000274520.1																			0				large_intestine(3)|lung(2)|pancreas(1)	6						c.(370-372)Ttt>Ctt		interleukin 9							71	79	76					5																	135228145		2203	4300	6503	SO:0001583	missense	3578				immune response|inflammatory response|positive regulation of cell proliferation|positive regulation of interleukin-5 biosynthetic process	extracellular space	cytokine activity|cytokine receptor binding|growth factor activity	g.chr5:135228145A>G	S63356	CCDS4189.1	5q31-q35	2008-07-18			ENSG00000145839	ENSG00000145839		"Interleukins and interleukin receptors"	6029	protein-coding gene	gene with protein product	"p40 T-cell and mast cell growth factor", "T-cell growth factor p40", "p40 cytokine", "homolog of mouse T cell and mast cell growth factor 40"	146931				8379467	Standard	NM_000590		Approved	IL-9, HP40, P40	uc003lbb.1	P15248	OTTHUMG00000129147	ENST00000274520.1:c.370T>C	5.37:g.135228145A>G	ENSP00000274520:p.Phe124Leu						p.F124L	NM_000590.1	NP_000581.1	P15248	IL9_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)		5	380	-			124						Missense_Mutation	SNP	ENST00000274520.1	37	c.370T>C	CCDS4189.1	.	.	.	.	.	.	.	.	.	.	A	16.82	3.228791	0.58777	.	.	ENSG00000145839	ENST00000274520	T	0.56776	0.44	5.48	5.48	0.80851	Interleukin-7/-9, conserved site (1);	0.000000	0.64402	D	0.000019	T	0.69260	0.3091	M	0.65498	2.005	0.43218	D	0.995099	D	0.89917	1.0	D	0.91635	0.999	T	0.72649	-0.4229	10	0.87932	D	0	-2.6444	11.9707	0.53062	1.0:0.0:0.0:0.0	.	124	P15248	IL9_HUMAN	L	124	ENSP00000274520:F124L	ENSP00000274520:F124L	F	-	1	0	IL9	135256044	0.994000	0.37717	0.784000	0.31847	0.018000	0.09664	4.247000	0.58750	2.087000	0.62958	0.533000	0.62120	TTT		0.378	IL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251210.1	NM_000590		7	47	0	0	0	1	0	7	47					G	135228145	A	G	135228145	3	3	228	1	0	0	0	0	1	0	0	0	7707	101	4	4	68	4	IL9	5	135228145	Missense_Mutation	SNP	A	TCGA-HC-8216-01A-11D-A29Q-08	45294490	135228145	45687115	46	10520											
EGR1	1958	broad.mit.edu	37	chr5	137803632	137803632	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tccccgtcggtggccaccacGtactcctctgttccccctgc	3	10	8	20	3	1	0	0	0	1	0	5	0	4	0	7	2	2	2	7	2	1	2	rs201207618		TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr5:137803632G>A	ENST00000239938.4	+	2	1766	c.1494G>A	c.(1492-1494)acG>acA	p.T498T		NM_001964.2	NP_001955.1	P18146	EGR1_HUMAN	early growth response 1	498					BMP signaling pathway (GO:0030509)|cellular response to antibiotic (GO:0071236)|cellular response to cAMP (GO:0071320)|cellular response to drug (GO:0035690)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to gamma radiation (GO:0071480)|cellular response to gonadotropin stimulus (GO:0071371)|cellular response to growth factor stimulus (GO:0071363)|cellular response to heparin (GO:0071504)|cellular response to hyperoxia (GO:0071455)|cellular response to hypoxia (GO:0071456)|cellular response to insulin stimulus (GO:0032869)|cellular response to isoquinoline alkaloid (GO:0071317)|cellular response to mechanical stimulus (GO:0071260)|cellular response to mycophenolic acid (GO:0071506)|cellular response to steroid hormone stimulus (GO:0071383)|circadian rhythm (GO:0007623)|cytokine-mediated signaling pathway (GO:0019221)|glomerular mesangial cell proliferation (GO:0072110)|interleukin-1-mediated signaling pathway (GO:0070498)|learning or memory (GO:0007611)|long-term synaptic potentiation (GO:0060291)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|oligodendrocyte differentiation (GO:0048709)|positive regulation of glomerular metanephric mesangial cell proliferation (GO:0072303)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of protein sumoylation (GO:0033233)|response to amphetamine (GO:0001975)|response to carbon monoxide (GO:0034465)|response to cocaine (GO:0042220)|response to electrical stimulus (GO:0051602)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to norepinephrine (GO:0071873)|response to nutrient levels (GO:0031667)|skeletal muscle cell differentiation (GO:0035914)|T cell differentiation (GO:0030217)|transcription from RNA polymerase II promoter (GO:0006366)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|histone acetyltransferase binding (GO:0035035)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|ovary(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			TGGCCACCACGTACTCCTCTG	0.637																																						ENST00000239938.4																			0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|ovary(1)	6						c.(1492-1494)acG>acA		early growth response 1							134	124	128					5																	137803632		2203	4300	6503	SO:0001819	synonymous_variant	1958				cellular response to heparin|cellular response to mycophenolic acid|glomerular mesangial cell proliferation|interleukin-1-mediated signaling pathway|positive regulation of glomerular metanephric mesangial cell proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of protein sumoylation|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	cytoplasm|nucleus	histone acetyltransferase binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr5:137803632G>A	M62829	CCDS4206.1	5q23-q31	2013-01-08			ENSG00000120738	ENSG00000120738		"Zinc fingers, C2H2-type"	3238	protein-coding gene	gene with protein product	"nerve growth factor-induced protein A", "transcription factor ETR103", "zinc finger protein 225", "early growth response protein 1"	128990				3127059	Standard	NM_001964		Approved	TIS8, G0S30, NGFI-A, KROX-24, ZIF-268, AT225, ZNF225	uc003ldb.1	P18146	OTTHUMG00000129197	ENST00000239938.4:c.1494G>A	5.37:g.137803632G>A							p.T498T	NM_001964.2	NP_001955.1	P18146	EGR1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)		2	1766	+			498						Silent	SNP	ENST00000239938.4	37	c.1494G>A	CCDS4206.1																																																																																				0.637	EGR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251274.1	NM_001964		18	226	0	0	0	1	0	18	226					A	137803632	G	A	137803632	2	1	228	1	0	0	0	0	0	0	0	1	4971	1132	40	1		1	EGR1	5	137803632	Silent	SNP	G	TCGA-HC-8216-01A-11D-A29Q-08	2575487	137803632	43111628	47	10521											
KCTD16	57528	broad.mit.edu	37	chr5	143587109	143587109	+	Splice_Site	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acactgaatatgtcttctacCgtaagtacaaagggttgttt	12	14	8	7	1	2	1	0	1	2	0	2	1	2	1	1	1	2	4	1	1	6	7			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr5:143587109C>G	ENST00000507359.3	+	2	1923	c.832C>G	c.(832-834)Cgt>Ggt	p.R278G	KCTD16_ENST00000512467.1_Splice_Site_p.R278G	NM_020768.3	NP_065819.1	Q68DU8	KCD16_HUMAN	potassium channel tetramerization domain containing 16	278					protein homooligomerization (GO:0051260)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|receptor complex (GO:0043235)				large_intestine(5)|lung(9)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	21		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176)			TGTCTTCTACCGTAAGTACAA	0.393																																						ENST00000507359.2																			0				large_intestine(5)|lung(9)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	21						c.e2+1		potassium channel tetramerization domain containing 16							68	66	67					5																	143587109		2203	4300	6503	SO:0001630	splice_region_variant	57528					cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr5:143587109C>G	AB037738	CCDS34260.1	5q32	2013-06-20	2013-06-20		ENSG00000183775	ENSG00000183775			29244	protein-coding gene	gene with protein product		613423	"potassium channel tetramerisation domain containing 16"			10718198	Standard	NM_020768		Approved	KIAA1317	uc003lnm.1	Q68DU8	OTTHUMG00000163172	ENST00000507359.3:c.832+1C>G	5.37:g.143587109C>G						KCTD16_ENST00000512467.1_Splice_Site_p.R278_splice	p.R278_splice	NM_020768.3	NP_065819.1	Q68DU8	KCD16_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176)		2	1923	+		all_hematologic(541;0.118)	278					Q9P2M9	Splice_Site	SNP	ENST00000507359.3	37	c.832_splice	CCDS34260.1	.	.	.	.	.	.	.	.	.	.	C	13.20	2.164742	0.38217	.	.	ENSG00000183775	ENST00000512467;ENST00000507359	T;T	0.60424	0.19;0.19	5.69	5.69	0.88448	.	0.331692	0.36932	N	0.002330	T	0.59418	0.2192	M	0.75884	2.315	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.58115	-0.7693	10	0.56958	D	0.05	.	14.6345	0.68678	0.1455:0.8545:0.0:0.0	.	278	Q68DU8	KCD16_HUMAN	G	278	ENSP00000424151:R278G;ENSP00000426548:R278G	ENSP00000426548:R278G	R	+	1	0	KCTD16	143567302	1.000000	0.71417	1.000000	0.80357	0.923000	0.55619	5.885000	0.69736	2.700000	0.92200	0.561000	0.74099	CGT		0.393	KCTD16-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371898.3	XM_098368	Missense_Mutation	5	65	0	0	0	1	0	5	65					G	143587109	C	G	143587109	5	3	228	1	0	0	0	0	0	0	1	0	8103	666	23	5	834	5	KCTD16	5	143587109	Splice_Site	SNP	C	TCGA-HC-8216-01A-11D-A29Q-08	5783477	143587109	37328151	48	10522											
ODZ2	57451	broad.mit.edu	37	chr5	167642135	167642135	+	Silent	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacagcaggagaatctaccgCgtcaagtctctgagtggaac	13	7	11	10	2	3	2	1	1	2	1	4	4	3	3	1	2	4	1	1	2	5	1			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr5:167642135C>G	ENST00000518659.1	+	21	3975	c.3936C>G	c.(3934-3936)cgC>cgG	p.R1312R	TENM2_ENST00000403607.2_Silent_p.R1136R|TENM2_ENST00000519204.1_Silent_p.R1191R|TENM2_ENST00000545108.1_Silent_p.R1311R|TENM2_ENST00000520394.1_Silent_p.R1073R	NM_001122679.1	NP_001116151.1	Q9NT68	TEN2_HUMAN	teneurin transmembrane protein 2	1312					axon guidance (GO:0007411)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|heterophilic cell-cell adhesion (GO:0007157)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of filopodium assembly (GO:0051491)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cell-cell junction (GO:0005911)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|endoplasmic reticulum (GO:0005783)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)										GAATCTACCGCGTCAAGTCTC	0.567																																						ENST00000519204.1																			0											c.(3571-3573)cgC>cgG		teneurin transmembrane protein 2							102	105	104					5																	167642135		1950	4145	6095	SO:0001819	synonymous_variant	57451							g.chr5:167642135C>G	AB032953		5q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000145934	ENSG00000145934			29943	protein-coding gene	gene with protein product		610119	"odz, odd Oz/ten-m homolog 2 (Drosophila)"	ODZ2		10625539	Standard	NM_001122679		Approved	KIAA1127, Ten-M2	uc010jjd.3	Q9NT68	OTTHUMG00000162928	ENST00000518659.1:c.3936C>G	5.37:g.167642135C>G						TENM2_ENST00000518659.1_Silent_p.R1312R|TENM2_ENST00000545108.1_Silent_p.R1311R|TENM2_ENST00000520394.1_Silent_p.R1073R|TENM2_ENST00000403607.2_Silent_p.R1136R	p.R1191R							20	3691	+								Q9ULU2	Silent	SNP	ENST00000518659.1	37	c.3573C>G																																																																																					0.567	TENM2-001	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000376096.1	NM_001122679		6	102	0	0	0	1	0	6	102					G	167642135	C	G	167642135	2	3	228	1	0	0	0	0	0	0	0	1	10835	755	27	5		5	ODZ2	5	167642135	Silent	SNP	C	TCGA-HC-8216-01A-11D-A29Q-08	24055026	167642135	13273125	49	10523											
DOCK2	1794	broad.mit.edu	37	chr5	169507217	169507217	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	accaacctctcggagcatgcGgccatccccctcaaggcgtc	8	6	9	18	3	2	0	1	0	1	0	5	1	3	1	5	3	3	1	5	3	2	0	rs148811648	byFrequency	TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr5:169507217G>A	ENST00000256935.8	+	50	5297	c.5217G>A	c.(5215-5217)gcG>gcA	p.A1739A	DOCK2_ENST00000520908.1_Silent_p.A1231A|DOCK2_ENST00000540750.1_Silent_p.A800A|DOCK2_ENST00000523351.1_3'UTR	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	1739					actin cytoskeleton organization (GO:0030036)|alpha-beta T cell proliferation (GO:0046633)|chemotaxis (GO:0006935)|establishment of T cell polarity (GO:0001768)|immunological synapse formation (GO:0001771)|macropinocytosis (GO:0044351)|membrane raft polarization (GO:0001766)|myeloid dendritic cell activation involved in immune response (GO:0002277)|negative thymic T cell selection (GO:0045060)|positive regulation of phagocytosis (GO:0050766)|positive thymic T cell selection (GO:0045059)|regulation of defense response to virus by virus (GO:0050690)|small GTPase mediated signal transduction (GO:0007264)|viral process (GO:0016032)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rac GTPase activator activity (GO:0030675)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|T cell receptor binding (GO:0042608)			NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CGGAGCATGCGGCCATCCCCC	0.557													G|||	3	0.000599042	0	0	5008	,	,		18457	0.003		0	False		,,,				2504	0					ENST00000256935.8																			0				NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160						c.(5215-5217)gcG>gcA		dedicator of cytokinesis 2							139	114	122					5																	169507217		2203	4300	6503	SO:0001819	synonymous_variant	1794				actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding	g.chr5:169507217G>A	BC016996	CCDS4371.1	5q35.1	2008-02-05			ENSG00000134516	ENSG00000134516			2988	protein-coding gene	gene with protein product		603122	"dedicator of cyto-kinesis 2"				Standard	NM_004946		Approved	KIAA0209	uc003maf.3	Q92608	OTTHUMG00000130437	ENST00000256935.8:c.5217G>A	5.37:g.169507217G>A						DOCK2_ENST00000520908.1_Silent_p.A1231A|DOCK2_ENST00000540750.1_Silent_p.A800A|DOCK2_ENST00000523351.1_3'UTR	p.A1739A	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		50	5297	+	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	1739					Q2M3I0|Q96AK7	Silent	SNP	ENST00000256935.8	37	c.5217G>A	CCDS4371.1																																																																																				0.557	DOCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252828.2	NM_004946		5	76	0	0	0	1	0	5	76					A	169507217	G	A	169507217	2	1	228	1	0	0	0	0	0	0	0	1	4687	1103	39	2		2	DOCK2	5	169507217	Silent	SNP	G	TCGA-HC-8216-01A-11D-A29Q-08	1865082	169507217	11408043	50	10524											
CD83	9308	broad.mit.edu	37	chr6	14131886	14131886	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attccctgaagatccgaaacActaccagctgcaactcgggg	12	7	9	13	2	0	2	0	1	0	1	3	3	2	2	3	2	5	2	3	2	4	2			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr6:14131886A>C	ENST00000379153.3	+	3	460	c.289A>C	c.(289-291)Act>Cct	p.T97P		NM_001040280.1|NM_001251901.1|NM_004233.3	NP_001035370.1|NP_001238830.1|NP_004224.1	Q01151	CD83_HUMAN	CD83 molecule	97	Ig-like V-type.				defense response (GO:0006952)|humoral immune response (GO:0006959)|negative regulation of interleukin-4 production (GO:0032713)|positive regulation of CD4-positive, alpha-beta T cell differentiation (GO:0043372)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-2 production (GO:0032743)|response to organic cyclic compound (GO:0014070)|signal transduction (GO:0007165)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)	12	Breast(50;0.00245)|Ovarian(93;0.137)	all_hematologic(90;0.117)				GATCCGAAACACTACCAGCTG	0.542																																						ENST00000379153.3																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)	12						c.(289-291)Act>Cct		CD83 molecule							147	135	139					6																	14131886		2203	4300	6503	SO:0001583	missense	9308				defense response|humoral immune response|signal transduction	integral to plasma membrane		g.chr6:14131886A>C	Z11697	CCDS4532.1, CCDS75403.1	6p23	2013-01-11	2006-03-31		ENSG00000112149	ENSG00000112149		"CD molecules", "Immunoglobulin superfamily / V-set domain containing"	1703	protein-coding gene	gene with protein product		604534	"CD83 antigen (activated B lymphocytes, immunoglobulin superfamily)", "CD83 molecule "			1378080, 8422464	Standard	NM_001251901		Approved	HB15, BL11	uc003nbi.3	Q01151	OTTHUMG00000014283	ENST00000379153.3:c.289A>C	6.37:g.14131886A>C	ENSP00000368450:p.Thr97Pro						p.T97P	NM_001040280.1|NM_001251901.1|NM_004233.3	NP_001035370.1|NP_001238830.1|NP_004224.1	Q01151	CD83_HUMAN			3	460	+	Breast(50;0.00245)|Ovarian(93;0.137)	all_hematologic(90;0.117)	97			Ig-like V-type.		Q5THX9	Missense_Mutation	SNP	ENST00000379153.3	37	c.289A>C	CCDS4532.1	.	.	.	.	.	.	.	.	.	.	A	13.99	2.401649	0.42613	.	.	ENSG00000112149	ENST00000379153	T	0.65549	-0.16	5.61	3.21	0.36854	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.642064	0.16115	N	0.228895	T	0.60470	0.2271	M	0.61703	1.905	0.32720	N	0.510448	D	0.63046	0.992	D	0.64877	0.93	T	0.60762	-0.7199	10	0.62326	D	0.03	-5.1042	7.2041	0.25897	0.8232:0.0:0.1768:0.0	.	97	Q01151	CD83_HUMAN	P	97	ENSP00000368450:T97P	ENSP00000368450:T97P	T	+	1	0	CD83	14239865	0.894000	0.30519	0.991000	0.47740	0.154000	0.21943	0.767000	0.26575	0.504000	0.28082	0.533000	0.62120	ACT		0.542	CD83-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039916.1			7	122	0	0	0	1	0	7	122					C	14131886	A	C	14131886	3	2	228	1	0	0	0	0	1	0	0	0	3041	159	6	5	299	5	CD83	6	14131886	Missense_Mutation	SNP	A	TCGA-HC-8216-01A-11D-A29Q-08		14131886	156983181	51	10525											
ALDH5A1	7915	broad.mit.edu	37	chr6	24503566	24503566	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agtggttctctgaggaagccCgccgtgtttacggagacatt	8	11	13	9	3	1	2	0	1	1	1	2	4	1	3	2	3	2	2	2	3	2	4	rs551902853		TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr6:24503566C>T	ENST00000357578.3	+	3	659	c.514C>T	c.(514-516)Cgc>Tgc	p.R172C	ALDH5A1_ENST00000546278.1_Missense_Mutation_p.R84C|ALDH5A1_ENST00000491546.1_Missense_Mutation_p.R144C|ALDH5A1_ENST00000348925.2_Missense_Mutation_p.R172C	NM_001080.3	NP_001071.1	P51649	SSDH_HUMAN	aldehyde dehydrogenase 5 family, member A1	172					acetate metabolic process (GO:0006083)|central nervous system development (GO:0007417)|galactosylceramide metabolic process (GO:0006681)|gamma-aminobutyric acid catabolic process (GO:0009450)|glucose metabolic process (GO:0006006)|glucosylceramide metabolic process (GO:0006678)|glutamate metabolic process (GO:0006536)|glutamine metabolic process (GO:0006541)|glutathione metabolic process (GO:0006749)|glycerophospholipid metabolic process (GO:0006650)|neurotransmitter catabolic process (GO:0042135)|neurotransmitter secretion (GO:0007269)|post-embryonic development (GO:0009791)|protein homotetramerization (GO:0051289)|respiratory electron transport chain (GO:0022904)|short-chain fatty acid metabolic process (GO:0046459)|succinate metabolic process (GO:0006105)|synaptic transmission (GO:0007268)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	protein homodimerization activity (GO:0042803)|succinate-semialdehyde dehydrogenase (NAD+) activity (GO:0004777)|succinate-semialdehyde dehydrogenase [NAD(P)+] activity (GO:0009013)			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(7)|skin(2)|urinary_tract(1)	20					Chlormerodrin(DB00534)|Succinic acid(DB00139)|Valproic Acid(DB00313)	TGAGGAAGCCCGCCGTGTTTA	0.537													C|||	1	0.000199681	0	0.0014	5008	,	,		18932	0		0	False		,,,				2504	0					ENST00000357578.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(7)|skin(2)|urinary_tract(1)	20						c.(514-516)Cgc>Tgc		aldehyde dehydrogenase 5 family, member A1	Chlormerodrin(DB00534)|NADH(DB00157)|Succinic acid(DB00139)						44	45	45					6																	24503566		2203	4300	6503	SO:0001583	missense	7915				acetate metabolic process|central nervous system development|galactosylceramide metabolic process|gamma-aminobutyric acid catabolic process|glucose metabolic process|glutamate metabolic process|glutamine metabolic process|glutathione metabolic process|glycerophospholipid metabolic process|neurotransmitter catabolic process|neurotransmitter secretion|protein homotetramerization|respiratory electron transport chain|short-chain fatty acid metabolic process|succinate metabolic process	mitochondrial matrix|soluble fraction	succinate-semialdehyde dehydrogenase activity	g.chr6:24503566C>T	L34820	CCDS4555.1, CCDS4556.1	6p22	2013-06-03	2008-07-31		ENSG00000112294	ENSG00000112294	1.2.1.24	"Aldehyde dehydrogenases"	408	protein-coding gene	gene with protein product	"succinate-semialdehyde dehydrogenase"	610045				7814412, 9059628	Standard	NM_001080		Approved	SSADH, SSDH	uc003nef.3	P51649	OTTHUMG00000014356	ENST00000357578.3:c.514C>T	6.37:g.24503566C>T	ENSP00000350191:p.Arg172Cys					ALDH5A1_ENST00000491546.1_Missense_Mutation_p.R144C|ALDH5A1_ENST00000546278.1_Missense_Mutation_p.R84C|ALDH5A1_ENST00000348925.2_Missense_Mutation_p.R172C	p.R172C	NM_001080.3	NP_001071.1	P51649	SSDH_HUMAN			3	659	+			172					B2RD26|G5E949|Q546H9|Q8N3W6	Missense_Mutation	SNP	ENST00000357578.3	37	c.514C>T	CCDS4555.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.196799	0.79015	.	.	ENSG00000112294	ENST00000357578;ENST00000546278;ENST00000491546;ENST00000348925	T;T;T;T	0.78126	-1.15;-1.15;-1.15;-1.15	5.22	5.22	0.72569	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, N-terminal (1);Aldehyde/histidinol dehydrogenase (1);	0.000000	0.85682	D	0.000000	D	0.91670	0.7367	H	0.96175	3.78	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.993	D	0.93713	0.7026	10	0.87932	D	0	.	18.9912	0.92793	0.0:1.0:0.0:0.0	.	172;172	P51649;G5E949	SSDH_HUMAN;.	C	172;84;144;172	ENSP00000350191:R172C;ENSP00000438193:R84C;ENSP00000417687:R144C;ENSP00000314649:R172C	ENSP00000314649:R172C	R	+	1	0	ALDH5A1	24611545	1.000000	0.71417	0.999000	0.59377	0.674000	0.39518	4.386000	0.59620	2.708000	0.92522	0.650000	0.86243	CGC		0.537	ALDH5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040007.2			7	47	0	0	0	1	0	7	47					T	24503566	C	T	24503566	3	4	228	1	0	0	0	0	1	0	0	0	502	652	23	2	524	2	ALDH5A1	6	24503566	Missense_Mutation	SNP	C	TCGA-HC-8216-01A-11D-A29Q-08	10371680	24503566	146611501	52	10526											
HIST1H2BE	8344	broad.mit.edu	37	chr6	26184078	26184078	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaagggctccaagaaggccGtgaccaaggcgcagaagaag	15	2	15	9	2	0	5	0	1	0	4	1	5	1	5	3	3	0	2	3	3	6	0			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr6:26184078G>A	ENST00000356530.3	+	1	121	c.55G>A	c.(55-57)Gtg>Atg	p.V19M		NM_003523.2	NP_003514.2	P62807	H2B1C_HUMAN	histone cluster 1, H2be	19					antibacterial humoral response (GO:0019731)|chromatin organization (GO:0006325)|defense response to Gram-positive bacterium (GO:0050830)|innate immune response in mucosa (GO:0002227)|nucleosome assembly (GO:0006334)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(1)|large_intestine(2)|lung(1)	4						CAAGAAGGCCGTGACCAAGGC	0.547																																						ENST00000356530.3																			0				endometrium(1)|large_intestine(2)|lung(1)	4						c.(55-57)Gtg>Atg		histone cluster 1, H2be							117	109	112					6																	26184078		2203	4300	6503	SO:0001583	missense	8344				defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding	g.chr6:26184078G>A	Z80780	CCDS4588.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000197697	ENSG00000274290		"Histones / Replication-dependent"	4753	protein-coding gene	gene with protein product		602805	"H2B histone family, member H", "histone 1, H2be"	H2BFH		9119399, 12408966	Standard	NM_003523		Approved	H2B/h, H2B.h	uc003ngt.3	P62807	OTTHUMG00000014427	ENST00000356530.3:c.55G>A	6.37:g.26184078G>A	ENSP00000348924:p.Val19Met						p.V19M	NM_003523.2	NP_003514.2	P62807	H2B1C_HUMAN			1	121	+			19					P02278|Q3B872|Q4VB69|Q93078|Q93080	Missense_Mutation	SNP	ENST00000356530.3	37	c.55G>A	CCDS4588.1	.	.	.	.	.	.	.	.	.	.	.	13.60	2.285353	0.40394	.	.	ENSG00000197697	ENST00000356530	T	0.21932	1.98	5.08	4.21	0.49690	.	0.000000	0.31134	U	0.008195	T	0.25419	0.0618	.	.	.	0.40762	D	0.983012	.	.	.	.	.	.	T	0.02581	-1.1138	7	0.59425	D	0.04	.	12.9064	0.58154	0.0791:0.0:0.9209:0.0	.	.	.	.	M	19	ENSP00000348924:V19M	ENSP00000348924:V19M	V	+	1	0	HIST1H2BE	26292057	1.000000	0.71417	0.976000	0.42696	0.125000	0.20455	7.577000	0.82486	1.280000	0.44463	-0.199000	0.12753	GTG		0.547	HIST1H2BE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040090.1	NM_003523		4	150	0	0	0	1	0	4	150					A	26184078	G	A	26184078	3	1	228	1	0	0	0	0	1	0	0	0	7144	1145	40	1	57	1	HIST1H2BE	6	26184078	Missense_Mutation	SNP	G	TCGA-HC-8216-01A-11D-A29Q-08	1680512	26184078	144930989	53	10527											
ZBTB9	221504	broad.mit.edu	37	chr6	33423613	33423613	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gagtatcaggggtttttcccCgtcctcatggaccccaccca	7	10	9	15	1	2	0	2	0	0	0	4	2	4	1	6	3	0	2	6	3	1	3			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr6:33423613C>T	ENST00000395064.2	+	2	1004	c.736C>T	c.(736-738)Cgt>Tgt	p.R246C		NM_152735.3	NP_689948.1	Q96C00	ZBTB9_HUMAN	zinc finger and BTB domain containing 9	246	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|skin(1)|upper_aerodigestive_tract(2)	11						GGTTTTTCCCCGTCCTCATGG	0.582																																						ENST00000395064.2																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|skin(1)|upper_aerodigestive_tract(2)	11						c.(736-738)Cgt>Tgt		zinc finger and BTB domain containing 9							61	62	62					6																	33423613		2203	4300	6503	SO:0001583	missense	221504				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:33423613C>T	AK122644	CCDS4780.1	6p21.31	2013-01-09			ENSG00000213588	ENSG00000213588		"-", "BTB/POZ domain containing", "Zinc fingers, C2H2-type"	28323	protein-coding gene	gene with protein product						12477932	Standard	NM_152735		Approved	MGC23166, ZNF919	uc003oeq.3	Q96C00	OTTHUMG00000140180	ENST00000395064.2:c.736C>T	6.37:g.33423613C>T	ENSP00000378503:p.Arg246Cys						p.R246C	NM_152735.3	NP_689948.1	Q96C00	ZBTB9_HUMAN			2	1004	+			246			Pro-rich.		A2AB19	Missense_Mutation	SNP	ENST00000395064.2	37	c.736C>T	CCDS4780.1	.	.	.	.	.	.	.	.	.	.	C	0.596	-0.830851	0.02713	.	.	ENSG00000213588	ENST00000395064	T	0.06142	3.34	5.4	2.63	0.31362	.	3.975350	0.01217	N	0.007998	T	0.01387	0.0045	N	0.14661	0.345	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.42413	-0.9453	10	0.54805	T	0.06	.	4.1908	0.10419	0.3234:0.5074:0.0:0.1692	.	246	Q96C00	ZBTB9_HUMAN	C	246	ENSP00000378503:R246C	ENSP00000378503:R246C	R	+	1	0	ZBTB9	33531591	0.000000	0.05858	0.004000	0.12327	0.040000	0.13550	0.375000	0.20518	0.395000	0.25257	0.655000	0.94253	CGT		0.582	ZBTB9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276533.1	NM_152735		12	60	0	0	0	1	0	12	60					T	33423613	C	T	33423613	3	4	228	1	0	0	0	0	1	0	0	0	17555	652	23	2	738	2	ZBTB9	6	33423613	Missense_Mutation	SNP	C	TCGA-HC-8216-01A-11D-A29Q-08	7239535	33423613	137691454	54	10528											
ANKS1A	23294	broad.mit.edu	37	chr6	34985688	34985688	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agctgaactcaaactcagccGcagcttgtccaagtctgact	11	9	8	13	1	3	2	2	2	1	0	4	2	4	2	2	0	5	3	2	0	3	1			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr6:34985688G>A	ENST00000360359.3	+	11	2000	c.1862G>A	c.(1861-1863)cGc>cAc	p.R621H	ANKS1A_ENST00000535627.1_Intron	NM_015245.2	NP_056060.2	Q92625	ANS1A_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1A	621					ephrin receptor signaling pathway (GO:0048013)|neuron remodeling (GO:0016322)|substrate-dependent cell migration (GO:0006929)	cytoplasm (GO:0005737)|neuron projection (GO:0043005)|nucleus (GO:0005634)				cervix(2)|endometrium(3)|large_intestine(4)|lung(16)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						AAACTCAGCCGCAGCTTGTCC	0.597																																						ENST00000360359.3																			0				cervix(2)|endometrium(3)|large_intestine(4)|lung(16)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						c.(1861-1863)cGc>cAc		ankyrin repeat and sterile alpha motif domain containing 1A							129	146	140					6																	34985688		2203	4300	6503	SO:0001583	missense	23294					cytoplasm	protein binding	g.chr6:34985688G>A	D86982	CCDS4798.1	6p21.31	2013-01-10	2006-02-17	2006-02-17	ENSG00000064999	ENSG00000064999		"Sterile alpha motif (SAM) domain containing", "Ankyrin repeat domain containing"	20961	protein-coding gene	gene with protein product		608994	"ankyrin repeat and SAM domain containing 1", "ankyrin repeat and sterile alpha motif domain containing 1"	ANKS1		9039502	Standard	NM_015245		Approved	KIAA0229	uc003ojx.4	Q92625	OTTHUMG00000014559	ENST00000360359.3:c.1862G>A	6.37:g.34985688G>A	ENSP00000353518:p.Arg621His					ANKS1A_ENST00000535627.1_Intron	p.R621H	NM_015245.2	NP_056060.2	Q92625	ANS1A_HUMAN			11	2000	+			621					A2RUC1|B4DQW8|Q5JYI9|Q5SYR2|Q86WQ7	Missense_Mutation	SNP	ENST00000360359.3	37	c.1862G>A	CCDS4798.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.388694	0.82902	.	.	ENSG00000064999	ENST00000360359	T	0.46819	0.86	5.41	5.41	0.78517	.	0.000000	0.50627	D	0.000117	T	0.61640	0.2363	L	0.59436	1.845	0.80722	D	1	D	0.89917	1.0	D	0.78314	0.991	T	0.63314	-0.6665	10	0.72032	D	0.01	-18.3484	19.5669	0.95397	0.0:0.0:1.0:0.0	.	621	Q92625	ANS1A_HUMAN	H	621	ENSP00000353518:R621H	ENSP00000353518:R621H	R	+	2	0	ANKS1A	35093666	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.374000	0.97172	2.694000	0.91930	0.655000	0.94253	CGC		0.597	ANKS1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040262.1	XM_166478		5	260	0	0	0	1	0	5	260					A	34985688	G	A	34985688	3	1	228	1	0	0	0	0	1	0	0	0	688	1087	38	1	1904	1	ANKS1A	6	34985688	Missense_Mutation	SNP	G	TCGA-HC-8216-01A-11D-A29Q-08	1562075	34985688	136129379	55	10529											
COL19A1	1310	broad.mit.edu	37	chr6	70639416	70639416	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tttttagaaatcgagaactcCgtcctttgtttgatcgtcag	9	16	8	8	3	1	3	1	1	0	2	5	4	3	3	2	0	1	1	2	0	3	5			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr6:70639416C>T	ENST00000322773.4	+	6	592	c.490C>T	c.(490-492)Cgt>Tgt	p.R164C		NM_001858.4	NP_001849.2	Q14993	COJA1_HUMAN	collagen, type XIX, alpha 1	164	Laminin G-like.				cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|single organismal cell-cell adhesion (GO:0016337)|skeletal muscle tissue development (GO:0007519)|skeletal system development (GO:0001501)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|protein binding, bridging (GO:0030674)			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						TCGAGAACTCCGTCCTTTGTT	0.393																																						ENST00000322773.4																			0				breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						c.(490-492)Cgt>Tgt		collagen, type XIX, alpha 1							120	116	117					6																	70639416		2203	4300	6503	SO:0001583	missense	1310				cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development	collagen	extracellular matrix structural constituent|protein binding, bridging	g.chr6:70639416C>T		CCDS4970.1	6q12-q13	2013-01-16			ENSG00000082293	ENSG00000082293		"Collagens"	2196	protein-coding gene	gene with protein product		120165				7916703, 9143499	Standard	NM_001858		Approved		uc003pfc.1	Q14993	OTTHUMG00000014987	ENST00000322773.4:c.490C>T	6.37:g.70639416C>T	ENSP00000316030:p.Arg164Cys						p.R164C	NM_001858.4	NP_001849.2	Q14993	COJA1_HUMAN			6	592	+			164			TSP N-terminal.		Q00559|Q05850|Q12885|Q13676|Q14DH1|Q5JUF0|Q5T424|Q9H572|Q9NPZ2|Q9NQP2	Missense_Mutation	SNP	ENST00000322773.4	37	c.490C>T	CCDS4970.1	.	.	.	.	.	.	.	.	.	.	C	9.287	1.049568	0.19827	.	.	ENSG00000082293	ENST00000322773	T	0.15256	2.44	5.52	4.46	0.54185	Concanavalin A-like lectin/glucanase (1);Laminin G, thrombospondin-type, N-terminal (1);	0.341651	0.27253	N	0.020208	T	0.14614	0.0353	L	0.51422	1.61	0.80722	D	1	D	0.69078	0.997	P	0.50490	0.642	T	0.00918	-1.1515	10	0.39692	T	0.17	.	13.0037	0.58692	0.0:0.8762:0.0:0.1238	.	164	Q14993	COJA1_HUMAN	C	164	ENSP00000316030:R164C	ENSP00000316030:R164C	R	+	1	0	COL19A1	70696137	0.954000	0.32549	0.456000	0.27044	0.645000	0.38454	2.138000	0.42140	2.592000	0.87571	0.467000	0.42956	CGT		0.393	COL19A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041127.1			6	52	0	0	0	1	0	6	52					T	70639416	C	T	70639416	3	4	228	1	0	0	0	0	1	0	0	0	3676	652	23	2	508	2	COL19A1	6	70639416	Missense_Mutation	SNP	C	TCGA-HC-8216-01A-11D-A29Q-08	35653728	70639416	100475651	56	10530											
TBX18	9096	broad.mit.edu	37	chr6	85446703	85446703	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgatgggtctggttagtggcGaaggcattgctggagggtga	7	11	19	4	1	1	2	0	2	1	0	1	4	1	3	0	6	1	3	0	6	2	2	rs114400107		TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr6:85446703G>A	ENST00000369663.5	-	8	1861	c.1524C>T	c.(1522-1524)ttC>ttT	p.F508F	TBX18_ENST00000606784.1_Intron	NM_001080508.1	NP_001073977.1	O95935	TBX18_HUMAN	T-box 18	508					anterior/posterior axis specification (GO:0009948)|cochlea morphogenesis (GO:0090103)|morphogenesis of embryonic epithelium (GO:0016331)|negative regulation of canonical Wnt signaling pathway involved in neural plate anterior/posterior pattern formation (GO:0060829)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of mesenchymal cell proliferation involved in ureter development (GO:2000729)|sensory perception of sound (GO:0007605)|sinoatrial node development (GO:0003163)|smooth muscle cell differentiation (GO:0051145)|somitogenesis (GO:0001756)|ureter development (GO:0072189)	nucleus (GO:0005634)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)	p.F508F(1)		NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(9)|liver(1)|lung(31)|ovary(2)|pancreas(3)|prostate(6)|skin(3)	61		all_cancers(76;0.000283)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0858)		BRCA - Breast invasive adenocarcinoma(108;0.0267)		GGTTAGTGGCGAAGGCATTGC	0.507													G|||	1	0.000199681	0	0	5008	,	,		19335	0.001		0	False		,,,				2504	0					ENST00000369663.5																			1	Substitution - coding silent(1)	p.F508F(1)	large_intestine(1)	NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(9)|liver(1)|lung(31)|ovary(2)|pancreas(3)|prostate(6)|skin(3)	61						c.(1522-1524)ttC>ttT		T-box 18		G		0,4406		0,0,2203	152	163	159		1524	-0.1	1	6	dbSNP_132	159	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	TBX18	NM_001080508.1		0,2,6501	AA,AG,GG		0.0233,0.0,0.0154		508/608	85446703	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	9096				multicellular organismal development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr6:85446703G>A	AJ010278	CCDS34495.1	6q14.1-q15	2012-12-19			ENSG00000112837	ENSG00000112837		"T-boxes"	11595	protein-coding gene	gene with protein product		604613				9888994, 16688725, 23242162	Standard	NM_001080508		Approved		uc003pkl.2	O95935	OTTHUMG00000015129	ENST00000369663.5:c.1524C>T	6.37:g.85446703G>A						TBX18_ENST00000606784.1_Intron	p.F508F	NM_001080508.1	NP_001073977.1	O95935	TBX18_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0267)	8	1861	-		all_cancers(76;0.000283)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0858)	508					A2RU13|Q7Z6U4|Q9UJI6	Silent	SNP	ENST00000369663.5	37	c.1524C>T	CCDS34495.1																																																																																				0.507	TBX18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041378.2	NM_001080508		16	196	0	0	0	1	0	16	196					A	85446703	G	A	85446703	2	1	228	1	0	0	0	0	0	0	0	1	15650	1049	37	2		2	TBX18	6	85446703	Silent	SNP	G	TCGA-HC-8216-01A-11D-A29Q-08	14807287	85446703	85668364	57	10531											
BACH2	60468	broad.mit.edu	37	chr6	90661075	90661075	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aatgtgcttgcaaaacctgaGgtactgtgtgatgatgcatt	11	13	11	6	0	0	3	0	3	0	0	0	3	0	3	1	1	5	4	1	1	4	3			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr6:90661075G>A	ENST00000257749.4	-	7	1457	c.750C>T	c.(748-750)acC>acT	p.T250T	BACH2_ENST00000343122.3_Silent_p.T250T|BACH2_ENST00000537989.1_Silent_p.T250T|RP3-512E2.2_ENST00000445838.1_RNA|RP3-512E2.2_ENST00000413986.1_RNA	NM_021813.2	NP_068585.1	Q9BYV9	BACH2_HUMAN	BTB and CNC homology 1, basic leucine zipper transcription factor 2	250						cytoplasm (GO:0005737)|nucleus (GO:0005634)	RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001206)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	45		all_cancers(76;7.37e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.0063)		BRCA - Breast invasive adenocarcinoma(108;0.0799)		CAAAACCTGAGGTACTGTGTG	0.493																																						ENST00000257749.4																			0				central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	45						c.(748-750)acC>acT		BTB and CNC homology 1, basic leucine zipper transcription factor 2							162	151	154					6																	90661075		2203	4300	6503	SO:0001819	synonymous_variant	60468					nucleus	protein dimerization activity|sequence-specific DNA binding	g.chr6:90661075G>A	AL121787	CCDS5026.1	6q15	2013-01-10			ENSG00000112182	ENSG00000112182		"BTB/POZ domain containing", "basic leucine zipper proteins"	14078	protein-coding gene	gene with protein product		605394				10949928, 12829606	Standard	NM_001170794		Approved	BTBD25	uc003pnw.3	Q9BYV9	OTTHUMG00000015216	ENST00000257749.4:c.750C>T	6.37:g.90661075G>A						BACH2_ENST00000537989.1_Silent_p.T250T|RP3-512E2.2_ENST00000413986.1_RNA|BACH2_ENST00000343122.3_Silent_p.T250T|RP3-512E2.2_ENST00000445838.1_RNA	p.T250T	NM_021813.2	NP_068585.1	Q9BYV9	BACH2_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0799)	7	1457	-		all_cancers(76;7.37e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.0063)	250					E1P518|Q59H70|Q5T793|Q9NTS5	Silent	SNP	ENST00000257749.4	37	c.750C>T	CCDS5026.1																																																																																				0.493	BACH2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041522.2	NM_021813		4	119	0	0	0	1	0	4	119					A	90661075	G	A	90661075	2	1	228	1	0	0	0	0	0	0	0	1	1284	987	35	3		3	BACH2	6	90661075	Silent	SNP	G	TCGA-HC-8216-01A-11D-A29Q-08	5214372	90661075	80453992	58	10532											
SOBP	55084	broad.mit.edu	37	chr6	107827592	107827592	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atggcagtgtgcccattattGtacctttaattccaccacct	9	14	6	12	0	0	0	0	0	0	0	1	0	1	0	5	1	2	2	5	1	3	6			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr6:107827592G>A	ENST00000317357.5	+	3	1041	c.382G>A	c.(382-384)Gta>Ata	p.V128I		NM_018013.3	NP_060483.3			sine oculis binding protein homolog (Drosophila)											endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	26		all_cancers(87;5.26e-06)|Acute lymphoblastic leukemia(125;2.87e-08)|all_hematologic(75;1.14e-06)|all_epithelial(87;0.00193)|Colorectal(196;0.156)		BRCA - Breast invasive adenocarcinoma(108;0.026)|all cancers(137;0.087)|Epithelial(106;0.104)|OV - Ovarian serous cystadenocarcinoma(136;0.154)		GCCCATTATTGTACCTTTAAT	0.423																																						ENST00000317357.5																			0				endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	26						c.(382-384)Gta>Ata		sine oculis binding protein homolog (Drosophila)							210	201	204					6																	107827592		1920	4144	6064	SO:0001583	missense	55084						metal ion binding	g.chr6:107827592G>A	AK001021	CCDS43488.1	6q21	2007-03-15			ENSG00000112320	ENSG00000112320			29256	protein-coding gene	gene with protein product		613667					Standard	NM_018013		Approved	FLJ10159	uc003prx.3	A7XYQ1	OTTHUMG00000015312	ENST00000317357.5:c.382G>A	6.37:g.107827592G>A	ENSP00000318900:p.Val128Ile						p.V128I	NM_018013.3	NP_060483.3	A7XYQ1	SOBP_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.026)|all cancers(137;0.087)|Epithelial(106;0.104)|OV - Ovarian serous cystadenocarcinoma(136;0.154)	3	1041	+		all_cancers(87;5.26e-06)|Acute lymphoblastic leukemia(125;2.87e-08)|all_hematologic(75;1.14e-06)|all_epithelial(87;0.00193)|Colorectal(196;0.156)	128						Missense_Mutation	SNP	ENST00000317357.5	37	c.382G>A	CCDS43488.1	.	.	.	.	.	.	.	.	.	.	G	28.9	4.957871	0.92726	.	.	ENSG00000112320	ENST00000317357	T	0.22539	1.95	5.24	5.24	0.73138	.	0.000000	0.85682	D	0.000000	T	0.28962	0.0719	L	0.38175	1.15	0.58432	D	0.999999	D	0.67145	0.996	D	0.77557	0.99	T	0.01238	-1.1409	10	0.37606	T	0.19	-6.4116	19.1981	0.93698	0.0:0.0:1.0:0.0	.	128	A7XYQ1	SOBP_HUMAN	I	128	ENSP00000318900:V128I	ENSP00000318900:V128I	V	+	1	0	SOBP	107934285	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.145000	0.94634	2.615000	0.88500	0.655000	0.94253	GTA		0.423	SOBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041693.2	NM_018013		17	162	0	0	0	1	0	17	162					A	107827592	G	A	107827592	3	1	228	1	0	0	0	0	1	0	0	0	14912	1377	48	3	392	3	SOBP	6	107827592	Missense_Mutation	SNP	G	TCGA-HC-8216-01A-11D-A29Q-08	17166517	107827592	63287475	59	10533											
ARMC2	84071	broad.mit.edu	37	chr6	109274248	109274248	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tattgcaggatttagtcgtcCgtgttgtttttattcttggc	5	20	10	6	2	1	0	0	0	1	0	3	1	2	1	1	2	1	3	1	2	3	10			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr6:109274248C>T	ENST00000392644.4	+	13	1777	c.1609C>T	c.(1609-1611)Cgt>Tgt	p.R537C	ARMC2_ENST00000368972.3_Missense_Mutation_p.R372C	NM_032131.4	NP_115507.4	Q8NEN0	ARMC2_HUMAN	armadillo repeat containing 2	537										endometrium(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|skin(1)	24		all_cancers(87;1.14e-07)|Acute lymphoblastic leukemia(125;2.3e-10)|all_hematologic(75;3.3e-08)|all_epithelial(87;0.000111)|Colorectal(196;0.03)|all_lung(197;0.11)		Epithelial(106;0.000197)|BRCA - Breast invasive adenocarcinoma(108;0.000236)|all cancers(137;0.000279)|OV - Ovarian serous cystadenocarcinoma(136;0.00434)		TTTAGTCGTCCGTGTTGTTTT	0.398																																						ENST00000392644.4																			0				endometrium(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|skin(1)	24						c.(1609-1611)Cgt>Tgt		armadillo repeat containing 2							60	52	55					6																	109274248		2202	4300	6502	SO:0001583	missense	84071						binding	g.chr6:109274248C>T	BC030603	CCDS5069.2, CCDS69168.1	6q21	2013-02-14			ENSG00000118690	ENSG00000118690		"Armadillo repeat containing"	23045	protein-coding gene	gene with protein product							Standard	XM_005267154		Approved	DKFZp434P0714, bA787I22.1	uc003pss.4	Q8NEN0	OTTHUMG00000015335	ENST00000392644.4:c.1609C>T	6.37:g.109274248C>T	ENSP00000376417:p.Arg537Cys					ARMC2_ENST00000368972.3_Missense_Mutation_p.R372C	p.R537C	NM_032131.4	NP_115507.4	Q8NEN0	ARMC2_HUMAN		Epithelial(106;0.000197)|BRCA - Breast invasive adenocarcinoma(108;0.000236)|all cancers(137;0.000279)|OV - Ovarian serous cystadenocarcinoma(136;0.00434)	13	1777	+		all_cancers(87;1.14e-07)|Acute lymphoblastic leukemia(125;2.3e-10)|all_hematologic(75;3.3e-08)|all_epithelial(87;0.000111)|Colorectal(196;0.03)|all_lung(197;0.11)	537					A8K8Y4|B4DGF5|G5E993|Q5VVY8|Q9H0K9	Missense_Mutation	SNP	ENST00000392644.4	37	c.1609C>T	CCDS5069.2	.	.	.	.	.	.	.	.	.	.	C	29.1	4.981120	0.93044	.	.	ENSG00000118690	ENST00000368972;ENST00000392644	T;T	0.48836	0.8;0.8	5.81	5.81	0.92471	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.69233	0.3088	M	0.84326	2.69	0.80722	D	1	D	0.89917	1.0	D	0.76575	0.988	T	0.72557	-0.4257	10	0.87932	D	0	.	20.0763	0.97746	0.0:1.0:0.0:0.0	.	537	Q8NEN0	ARMC2_HUMAN	C	372;537	ENSP00000357968:R372C;ENSP00000376417:R537C	ENSP00000357968:R372C	R	+	1	0	ARMC2	109380941	1.000000	0.71417	0.328000	0.25416	0.926000	0.56050	6.969000	0.76092	2.756000	0.94617	0.655000	0.94253	CGT		0.398	ARMC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041732.2	NM_032131		4	13	0	0	0	1	0	4	13					T	109274248	C	T	109274248	3	4	228	1	0	0	0	0	1	0	0	0	951	652	23	2	1655	2	ARMC2	6	109274248	Missense_Mutation	SNP	C	TCGA-HC-8216-01A-11D-A29Q-08	1446656	109274248	61840819	60	10534											
ROS1	6098	broad.mit.edu	37	chr6	117662661	117662661	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tagaggagtttcaggaattaGggccaggtgtgagattgcca	11	10	15	5	0	1	2	1	1	0	2	1	5	1	4	2	4	1	1	2	4	3	4			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr6:117662661G>A	ENST00000368508.3	-	29	5002	c.4804C>T	c.(4804-4806)Cta>Tta	p.L1602L	ROS1_ENST00000368507.3_Silent_p.L1596L|GOPC_ENST00000467125.1_Intron	NM_002944.2	NP_002935.2	P08922	ROS1_HUMAN	ROS proto-oncogene 1 , receptor tyrosine kinase	1602	Fibronectin type-III 7. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell differentiation (GO:0030154)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|columnar/cuboidal epithelial cell development (GO:0002066)|negative regulation of gene expression (GO:0010629)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein phosphorylation (GO:0006468)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of phosphate transport (GO:0010966)|regulation of TOR signaling (GO:0032006)|spermatogenesis (GO:0007283)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		TCAGGAATTAGGGCCAGGTGT	0.428			T	"GOPC, SDC4, SLC34A2, EZR, LRIG3"	"glioblastoma, NSCLC"																																	ENST00000368508.3				Dom	yes		6	6q22	6098	T	v-ros UR2 sarcoma virus oncogene homolog 1 (avian)			"O, E"	"GOPC, SDC4, SLC34A2, EZR, LRIG3"		"glioblastoma, NSCLC"	TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	0				NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162						c.(4804-4806)Cta>Tta		c-ros oncogene 1 , receptor tyrosine kinase							182	165	171					6																	117662661		2203	4300	6503	SO:0001819	synonymous_variant	6098				transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr6:117662661G>A	M13599	CCDS5116.1	6q21-q22	2014-06-26	2014-06-26		ENSG00000047936	ENSG00000047936		"Fibronectin type III domain containing"	10261	protein-coding gene	gene with protein product		165020	"v-ros avian UR2 sarcoma virus oncogene homolog 1", "v-ros UR2 sarcoma virus oncogene homolog 1 (avian)", "c-ros oncogene 1 , receptor tyrosine kinase"			1611909	Standard	NM_002944		Approved	MCF3, ROS, c-ros-1	uc003pxp.1	P08922	OTTHUMG00000016188	ENST00000368508.3:c.4804C>T	6.37:g.117662661G>A						GOPC_ENST00000467125.1_Intron|ROS1_ENST00000368507.3_Silent_p.L1596L	p.L1602L	NM_002944.2	NP_002935.2	P08922	ROS_HUMAN		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)	29	5002	-		all_cancers(87;0.00846)|all_epithelial(87;0.0242)	1602			Fibronectin type-III 7.		Q15368|Q5TDB5	Silent	SNP	ENST00000368508.3	37	c.4804C>T	CCDS5116.1																																																																																				0.428	ROS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043464.1			5	91	0	0	0	1	0	5	91					A	117662661	G	A	117662661	2	1	228	1	0	0	0	0	0	0	0	1	13531	991	35	3		3	ROS1	6	117662661	Silent	SNP	G	TCGA-HC-8216-01A-11D-A29Q-08	8388413	117662661	53452406	61	10535											
GPR126	57211	broad.mit.edu	37	chr6	142691627	142691627	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gctttgaacagctctgccttGtttggaataattctttgggc	7	16	10	8	0	2	1	0	1	2	0	2	2	2	2	1	2	3	3	1	2	3	6			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr6:142691627G>T	ENST00000230173.6	+	4	1242	c.766G>T	c.(766-768)Gtt>Ttt	p.V256F	GPR126_ENST00000367608.2_Missense_Mutation_p.V256F|GPR126_ENST00000296932.8_Missense_Mutation_p.V256F|GPR126_ENST00000367609.3_Missense_Mutation_p.V256F|GPR126_ENST00000545477.1_Intron	NM_020455.5	NP_065188	Q86SQ4	GP126_HUMAN	G protein-coupled receptor 126	256	Pentaxin.				G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.V256F(1)|p.V255F(1)		cervix(1)|endometrium(1)|kidney(3)|large_intestine(12)|lung(10)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36	Breast(32;0.176)			OV - Ovarian serous cystadenocarcinoma(155;9.33e-06)|GBM - Glioblastoma multiforme(68;0.00121)		GCTCTGCCTTGTTTGGAATAA	0.333																																						ENST00000230173.6																			2	Substitution - Missense(2)	p.V256F(1)|p.V255F(1)	lung(2)	cervix(1)|endometrium(1)|kidney(3)|large_intestine(12)|lung(10)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36						c.(766-768)Gtt>Ttt		G protein-coupled receptor 126							82	83	83					6																	142691627		1819	4070	5889	SO:0001583	missense	0				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr6:142691627G>T	AK027843	CCDS47489.1, CCDS47490.1, CCDS47491.1, CCDS55064.1	6q23.1-q24.3	2014-08-08			ENSG00000112414	ENSG00000112414		"-", "GPCR / Class B : Orphans"	13841	protein-coding gene	gene with protein product		612243				12565841	Standard	NM_001032395		Approved	FLJ14937	uc010khe.3	Q86SQ4	OTTHUMG00000015709	ENST00000230173.6:c.766G>T	6.37:g.142691627G>T	ENSP00000230173:p.Val256Phe					GPR126_ENST00000296932.8_Missense_Mutation_p.V256F|GPR126_ENST00000545477.1_Intron|GPR126_ENST00000367608.2_Missense_Mutation_p.V256F|GPR126_ENST00000367609.3_Missense_Mutation_p.V256F	p.V256F	NM_020455.5	NP_065188.4	Q86SQ4	GP126_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;9.33e-06)|GBM - Glioblastoma multiforme(68;0.00121)	4	1242	+	Breast(32;0.176)		256			Pentaxin.		Q5TGN7|Q6DHZ4|Q6F3F5|Q6F3F6|Q6F3F7|Q6F3F8|Q6MZU7|Q8IXA4|Q8NC14|Q96JW0	Missense_Mutation	SNP	ENST00000230173.6	37	c.766G>T	CCDS47490.1	.	.	.	.	.	.	.	.	.	.	G	8.949	0.967816	0.18659	.	.	ENSG00000112414	ENST00000230173;ENST00000367608;ENST00000296932;ENST00000367609	T;T;T;T	0.63096	-0.02;-0.02;-0.02;-0.02	5.5	-1.11	0.09840	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);	1.263410	0.05402	N	0.540829	T	0.33527	0.0866	L	0.40543	1.245	0.09310	N	1	P;P;P;P	0.41393	0.483;0.483;0.704;0.748	B;B;B;B	0.40410	0.22;0.22;0.22;0.328	T	0.36504	-0.9745	10	0.72032	D	0.01	.	6.3406	0.21321	0.4253:0.1184:0.4563:0.0	.	256;256;256;256	Q86SQ4-4;Q86SQ4-3;Q86SQ4-2;Q86SQ4	.;.;.;GP126_HUMAN	F	256	ENSP00000230173:V256F;ENSP00000356580:V256F;ENSP00000296932:V256F;ENSP00000356581:V256F	ENSP00000230173:V256F	V	+	1	0	GPR126	142733320	0.001000	0.12720	0.001000	0.08648	0.283000	0.27025	0.199000	0.17237	0.015000	0.14971	-0.145000	0.13849	GTT		0.333	GPR126-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000042487.2			5	59	1	0	0.000602214	1	0.000658672	5	59					T	142691627	G	T	142691627	3	4	228	1	0	0	0	0	1	0	0	0	6640	1377	48	5	780	5	GPR126	6	142691627	Missense_Mutation	SNP	G	TCGA-HC-8216-01A-11D-A29Q-08	25028966	142691627	28423440	62	10536											
MTHFD1L	25902	broad.mit.edu	37	chr6	151243383	151243383	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gatggcttcgtgaacagcagCacaggcggtggagacttcac	10	7	14	10	2	1	2	1	1	0	1	2	4	1	2	0	4	3	3	0	4	1	2	rs567950016		TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr6:151243383C>T	ENST00000367321.3	+	10	1301	c.1027C>T	c.(1027-1029)Cac>Tac	p.H343Y		NM_001242767.1|NM_001242768.1|NM_015440.4	NP_001229696.1|NP_001229697.1|NP_056255.2	Q6UB35	C1TM_HUMAN	methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1-like	343	Methylenetetrahydrofolate dehydrogenase and cyclohydrolase.				folic acid-containing compound biosynthetic process (GO:0009396)|folic acid-containing compound metabolic process (GO:0006760)|formate metabolic process (GO:0015942)|one-carbon metabolic process (GO:0006730)|oxidation-reduction process (GO:0055114)|tetrahydrofolate interconversion (GO:0035999)|tetrahydrofolate metabolic process (GO:0046653)	membrane (GO:0016020)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|formate-tetrahydrofolate ligase activity (GO:0004329)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(8)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)	29		Ovarian(120;0.128)		OV - Ovarian serous cystadenocarcinoma(155;8.7e-12)		TGAACAGCAGCACAGGCGGTG	0.493																																						ENST00000367321.3																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(8)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)	29						c.(1027-1029)Cac>Tac		methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1-like							240	191	207					6																	151243383		2203	4300	6503	SO:0001583	missense	25902				folic acid-containing compound biosynthetic process|formate metabolic process|one-carbon metabolic process|tetrahydrofolate metabolic process	mitochondrion	ATP binding|formate-tetrahydrofolate ligase activity|protein homodimerization activity	g.chr6:151243383C>T	BC017477	CCDS5228.1, CCDS56457.1, CCDS75535.1, CCDS75536.1	6q25.1	2010-07-19	2004-12-13	2004-12-14	ENSG00000120254	ENSG00000120254	6.3.4.3		21055	protein-coding gene	gene with protein product	"10-formyl-THF synthetase", "mitochondrial C1-tetrahydrofolate synthase", "monofunctional C1-tetrahydrofolate synthase, mitochondrial"	611427	"formyltetrahydrofolate synthetase domain containing 1"	FTHFSDC1		18804703	Standard	NM_015440		Approved	DKFZP586G1517, FLJ21145	uc021zgs.1	Q6UB35	OTTHUMG00000015828	ENST00000367321.3:c.1027C>T	6.37:g.151243383C>T	ENSP00000356290:p.His343Tyr						p.H343Y	NM_001242767.1|NM_001242768.1|NM_015440.4	NP_001229696.1|NP_001229697.1|NP_056255.2	Q6UB35	C1TM_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;8.7e-12)	10	1301	+		Ovarian(120;0.128)	343			Methylenetetrahydrofolate dehydrogenase and cyclohydrolase.		Q2TBF3|Q8WVW0|Q96HG8|Q9H789|Q9UFU8	Missense_Mutation	SNP	ENST00000367321.3	37	c.1027C>T	CCDS5228.1	.	.	.	.	.	.	.	.	.	.	C	6.220	0.408823	0.11812	.	.	ENSG00000120254	ENST00000367321;ENST00000441122	T;T	0.41758	2.8;0.99	5.26	-2.38	0.06622	.	0.331135	0.37219	N	0.002198	T	0.03651	0.0104	N	0.00413	-1.525	0.80722	D	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.31943	-0.9925	10	0.42905	T	0.14	.	7.5191	0.27618	0.0:0.3141:0.1127:0.5732	.	344;98;343	B7ZM99;B2RD24;Q6UB35	.;.;C1TM_HUMAN	Y	343;14	ENSP00000356290:H343Y;ENSP00000407070:H14Y	ENSP00000356290:H343Y	H	+	1	0	MTHFD1L	151285076	0.997000	0.39634	0.309000	0.25155	0.955000	0.61496	0.600000	0.24104	-0.414000	0.07495	0.650000	0.86243	CAC		0.493	MTHFD1L-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042699.1	NM_015440		25	61	0	0	0	1	0	25	61					T	151243383	C	T	151243383	3	4	228	1	0	0	0	0	1	0	0	0	9928	710	25	3	1065	3	MTHFD1L	6	151243383	Missense_Mutation	SNP	C	TCGA-HC-8216-01A-11D-A29Q-08	8551756	151243383	19871684	63	10537											
C7orf16	10842	broad.mit.edu	37	chr7	31746867	31746867	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaagcaatcgtggaagatgaCgaaaaggatggtgacaagat	18	6	13	4	2	0	4	0	2	0	2	1	7	0	6	0	3	1	1	0	3	6	0	rs144020989		TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr7:31746867C>T	ENST00000342032.3	+	5	1066	c.438C>T	c.(436-438)gaC>gaT	p.D146D	PPP1R17_ENST00000409146.3_Silent_p.D95D|PPP1R17_ENST00000498609.1_3'UTR	NM_006658.4	NP_006649.2	O96001	PPR17_HUMAN	protein phosphatase 1, regulatory subunit 17	146					central nervous system development (GO:0007417)|intracellular signal transduction (GO:0035556)|regulation of phosphatase activity (GO:0010921)		protein serine/threonine phosphatase inhibitor activity (GO:0004865)										TGGAAGATGACGAAAAGGATG	0.408																																						ENST00000342032.3																			0											c.(436-438)gaC>gaT		protein phosphatase 1, regulatory subunit 17							140	120	126					7																	31746867		2203	4300	6503	SO:0001819	synonymous_variant	10842				behavior|central nervous system development|intracellular protein kinase cascade|protein phosphorylation	soluble fraction		g.chr7:31746867C>T	AF071789	CCDS5436.1, CCDS47570.1	7p15	2012-04-17	2011-10-11	2011-10-11	ENSG00000106341	ENSG00000106341		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	16973	protein-coding gene	gene with protein product	"G-substrate"	604088	"chromosome 7 open reading frame 16"	C7orf16		10051666, 9920894	Standard	NM_006658		Approved	GSBS	uc003tcl.3	O96001	OTTHUMG00000128629	ENST00000342032.3:c.438C>T	7.37:g.31746867C>T						PPP1R17_ENST00000498609.1_3'UTR|PPP1R17_ENST00000409146.3_Silent_p.D95D	p.D146D	NM_006658.4	NP_006649.2	O96001	GSUB_HUMAN			5	1066	+			146					B4DE58|Q9UDQ0	Silent	SNP	ENST00000342032.3	37	c.438C>T	CCDS5436.1																																																																																				0.408	PPP1R17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250498.1	NM_006658		5	29	0	0	0	1	0	5	29					T	31746867	C	T	31746867	2	4	228	1	0	0	0	0	0	0	0	1	2378	535	19	1		1	C7orf16	7	31746867	Silent	SNP	C	TCGA-HC-8216-01A-11D-A29Q-08		31746867	127391796	64	10538											
SEMA3E	9723	broad.mit.edu	37	chr7	83037758	83037758	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctgcggaagatcgcagcgTctctgctccagtagtcactg	7	10	12	12	3	2	1	1	0	1	1	5	2	3	2	1	1	4	4	1	1	2	1			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr7:83037758T>C	ENST00000307792.3	-	6	1063	c.596A>G	c.(595-597)gAc>gGc	p.D199G	SEMA3E_ENST00000427262.1_Missense_Mutation_p.D139G	NM_012431.2	NP_036563.1	O15041	SEM3E_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E	199	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell-matrix adhesion (GO:0001953)|patterning of blood vessels (GO:0001569)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of cell shape (GO:0008360)|semaphorin-plexin signaling pathway (GO:0071526)|sprouting angiogenesis (GO:0002040)|synapse organization (GO:0050808)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)	receptor activity (GO:0004872)			breast(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(19)|ovary(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	51		Medulloblastoma(109;0.109)				GATCGCAGCGTCTCTGCTCCA	0.458																																						ENST00000307792.3																			0				breast(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(19)|ovary(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	51						c.(595-597)gAc>gGc		sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E							60	55	56					7																	83037758		2203	4300	6503	SO:0001583	missense	9723				axon guidance	extracellular space|membrane	receptor activity	g.chr7:83037758T>C	AB002329	CCDS34674.1, CCDS55121.1	7q21.11	2013-01-11			ENSG00000170381	ENSG00000170381		"Semaphorins", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	10727	protein-coding gene	gene with protein product	"M-sema H"	608166		SEMAH		9205841, 9515811	Standard	NM_012431		Approved	M-SemaK, KIAA0331, coll-5	uc003uhy.2	O15041	OTTHUMG00000154693	ENST00000307792.3:c.596A>G	7.37:g.83037758T>C	ENSP00000303212:p.Asp199Gly					SEMA3E_ENST00000427262.1_Missense_Mutation_p.D139G	p.D199G	NM_012431.2	NP_036563.1	O15041	SEM3E_HUMAN			6	1063	-		Medulloblastoma(109;0.109)	199			Sema.		B4E1P1|Q75M94|Q75M97	Missense_Mutation	SNP	ENST00000307792.3	37	c.596A>G	CCDS34674.1	.	.	.	.	.	.	.	.	.	.	T	20.9	4.068751	0.76301	.	.	ENSG00000170381	ENST00000307792;ENST00000427262;ENST00000541514;ENST00000442159	T;T;T	0.16597	2.33;2.33;2.33	5.9	5.9	0.94986	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.000000	0.85682	D	0.000000	T	0.54111	0.1838	M	0.93420	3.415	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.66960	-0.5791	10	0.87932	D	0	.	16.3182	0.82936	0.0:0.0:0.0:1.0	.	199	O15041	SEM3E_HUMAN	G	199;139;199;139	ENSP00000303212:D199G;ENSP00000405052:D139G;ENSP00000412867:D139G	ENSP00000303212:D199G	D	-	2	0	SEMA3E	82875694	1.000000	0.71417	0.941000	0.38009	0.119000	0.20118	7.540000	0.82074	2.259000	0.74868	0.482000	0.46254	GAC		0.458	SEMA3E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336606.1	NM_012431		12	21	0	0	0	1	0	12	21					C	83037758	T	C	83037758	3	2	228	1	0	0	0	0	1	0	0	0	14028	1667	58	4	1779	4	SEMA3E	7	83037758	Missense_Mutation	SNP	T	TCGA-HC-8216-01A-11D-A29Q-08	51290891	83037758	76100905	65	10539											
OCM2	4951	broad.mit.edu	37	chr7	97614280	97614280	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actggggcttttaagaatgcAccatttcctggaattctaga	11	13	9	8	0	1	2	0	0	1	2	2	3	2	3	2	3	1	2	2	3	4	5			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr7:97614280A>G	ENST00000257627.4	-	4	411	c.320T>C	c.(319-321)gTg>gCg	p.V107A	OCM2_ENST00000473987.2_5'Flank	NM_006188.3	NP_006179.2	P0CE71	OCM2_HUMAN	oncomodulin 2	107	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.						calcium ion binding (GO:0005509)			lung(4)	4						TTAAGAATGCACCATTTCCTG	0.498																																						ENST00000257627.4																			0				lung(4)	4						c.(319-321)gTg>gCg		oncomodulin 2							53	53	53					7																	97614280		2203	4297	6500	SO:0001583	missense	4951						calcium ion binding	g.chr7:97614280A>G	BC156841	CCDS5653.1	7q21.2	2014-04-01			ENSG00000135175	ENSG00000135175		"EF-hand domain containing"	34396	protein-coding gene	gene with protein product							Standard	NM_006188		Approved		uc003upc.3	P0CE71	OTTHUMG00000154162	ENST00000257627.4:c.320T>C	7.37:g.97614280A>G	ENSP00000257627:p.Val107Ala						p.V107A	NM_006188.3	NP_006179.2	P0CE71	OCM2_HUMAN			4	411	-			107			EF-hand 2.		P32930|Q6ISI5|Q75MW0	Missense_Mutation	SNP	ENST00000257627.4	37	c.320T>C	CCDS5653.1	.	.	.	.	.	.	.	.	.	.	a	17.78	3.473408	0.63737	.	.	ENSG00000135175	ENST00000257627	T	0.75367	-0.93	3.62	3.62	0.41486	EF-hand-like domain (1);	0.160032	0.41097	D	0.000950	T	0.81039	0.4740	L	0.55017	1.72	0.43342	D	0.99539	D	0.89917	1.0	D	0.91635	0.999	T	0.81614	-0.0853	10	0.66056	D	0.02	-4.5729	9.7741	0.40607	1.0:0.0:0.0:0.0	.	107	P0CE71	OCM2_HUMAN	A	107	ENSP00000257627:V107A	ENSP00000257627:V107A	V	-	2	0	OCM2	97452216	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	4.799000	0.62517	1.526000	0.49068	0.397000	0.26171	GTG		0.498	OCM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334188.1	NM_006188		15	20	0	0	0	1	0	15	20					G	97614280	A	G	97614280	3	3	228	1	0	0	0	0	1	0	0	0	10822	159	6	4	13	4	OCM2	7	97614280	Missense_Mutation	SNP	A	TCGA-HC-8216-01A-11D-A29Q-08	14576522	97614280	61524383	66	10540											
LRRN3	54674	broad.mit.edu	37	chr7	110763905	110763905	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	accattgagtctctgccaaaCctcaaggaaatcagcataca	15	8	6	12	0	3	1	2	1	1	0	4	2	3	2	3	1	4	1	3	1	4	2			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr7:110763905C>G	ENST00000422987.3	+	2	1908	c.1077C>G	c.(1075-1077)aaC>aaG	p.N359K	IMMP2L_ENST00000415362.1_Intron|IMMP2L_ENST00000405709.2_Intron|LRRN3_ENST00000308478.5_Missense_Mutation_p.N359K|IMMP2L_ENST00000452895.1_Intron|IMMP2L_ENST00000489381.1_Intron|IMMP2L_ENST00000450877.1_Intron|IMMP2L_ENST00000437687.1_Intron|IMMP2L_ENST00000447215.1_Intron|LRRN3_ENST00000451085.1_Missense_Mutation_p.N359K|IMMP2L_ENST00000331762.3_Intron	NM_018334.4	NP_060804.3	Q9H3W5	LRRN3_HUMAN	leucine rich repeat neuronal 3	359					positive regulation of protein phosphorylation (GO:0001934)	clathrin adaptor complex (GO:0030131)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(15)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				UCEC - Uterine corpus endometrioid carcinoma (4;0.245)|LUSC - Lung squamous cell carcinoma(290;0.0715)|Lung(3;0.0864)|STAD - Stomach adenocarcinoma(3;0.125)		CTCTGCCAAACCTCAAGGAAA	0.468																																						ENST00000451085.1																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(15)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	55						c.(1075-1077)aaC>aaG		leucine rich repeat neuronal 3							96	83	87					7																	110763905		2203	4300	6503	SO:0001583	missense	54674					integral to membrane		g.chr7:110763905C>G	AB060967	CCDS5754.1	7q31.1	2013-02-11			ENSG00000173114	ENSG00000173114		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	17200	protein-coding gene	gene with protein product	"fibronectin type III, immunoglobulin and leucine rich repeat domains 5"					11549284	Standard	NM_001099660		Approved	NLRR3, FLJ11129, FIGLER5	uc003vfs.4	Q9H3W5	OTTHUMG00000155039	ENST00000422987.3:c.1077C>G	7.37:g.110763905C>G	ENSP00000412417:p.Asn359Lys					IMMP2L_ENST00000437687.1_Intron|IMMP2L_ENST00000489381.1_Intron|IMMP2L_ENST00000450877.1_Intron|LRRN3_ENST00000308478.5_Missense_Mutation_p.N359K|IMMP2L_ENST00000452895.1_Intron|IMMP2L_ENST00000331762.3_Intron|IMMP2L_ENST00000415362.1_Intron|IMMP2L_ENST00000405709.2_Intron|IMMP2L_ENST00000447215.1_Intron|LRRN3_ENST00000422987.3_Missense_Mutation_p.N359K	p.N359K	NM_001099660.1	NP_001093130.1	Q9H3W5	LRRN3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;0.245)|LUSC - Lung squamous cell carcinoma(290;0.0715)|Lung(3;0.0864)|STAD - Stomach adenocarcinoma(3;0.125)	4	2123	+			359					O43377|Q6I9V8|Q8IYQ6	Missense_Mutation	SNP	ENST00000422987.3	37	c.1077C>G	CCDS5754.1	.	.	.	.	.	.	.	.	.	.	C	14.25	2.480647	0.44044	.	.	ENSG00000173114	ENST00000308478;ENST00000451085;ENST00000422987	T;T;T	0.56444	0.46;0.46;0.46	5.81	3.94	0.45596	.	0.082643	0.51477	D	0.000087	T	0.45054	0.1323	L	0.35542	1.07	0.50632	D	0.999882	P	0.51147	0.942	P	0.48368	0.575	T	0.27331	-1.0077	10	0.38643	T	0.18	.	8.0547	0.30598	0.0:0.6826:0.0:0.3174	.	359	Q9H3W5	LRRN3_HUMAN	K	359	ENSP00000312001:N359K;ENSP00000397312:N359K;ENSP00000412417:N359K	ENSP00000312001:N359K	N	+	3	2	LRRN3	110551141	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.065000	0.41442	0.738000	0.32606	0.650000	0.86243	AAC		0.468	LRRN3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338171.2	NM_018334		4	68	0	0	0	1	0	4	68					G	110763905	C	G	110763905	3	3	228	1	0	0	0	0	1	0	0	0	9036	506	18	5	1079	5	LRRN3	7	110763905	Missense_Mutation	SNP	C	TCGA-HC-8216-01A-11D-A29Q-08	13149625	110763905	48374758	67	10541											
C7orf45	136263	broad.mit.edu	37	chr7	129853359	129853359	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atgaaggcagtgggacaagtActtcagtaaggaaaggtgag	15	7	15	4	0	1	2	1	2	0	0	1	4	1	4	0	4	1	3	0	4	5	3			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr7:129853359A>T	ENST00000297819.3	+	2	274	c.223A>T	c.(223-225)Act>Tct	p.T75S		NM_145268.3	NP_660311.1	Q8WWF3	SSMM1_HUMAN	serine-rich single-pass membrane protein 1	75						integral component of membrane (GO:0016021)											TGGGACAAGTACTTCAGTAAG	0.408																																						ENST00000297819.3																			0											c.(223-225)Act>Tct		serine-rich single-pass membrane protein 1							230	181	197					7																	129853359		2203	4300	6503	SO:0001583	missense	136263							g.chr7:129853359A>T	AK097635	CCDS5816.1	7q32.2	2013-03-08	2013-03-08	2013-03-08	ENSG00000165120	ENSG00000165120			29580	protein-coding gene	gene with protein product			"chromosome 7 open reading frame 45"	C7orf45		12477932	Standard	NM_145268		Approved	FLJ40316	uc003vpp.3	Q8WWF3	OTTHUMG00000157844	ENST00000297819.3:c.223A>T	7.37:g.129853359A>T	ENSP00000297819:p.Thr75Ser						p.T75S	NM_145268.3	NP_660311.1					2	274	+									Missense_Mutation	SNP	ENST00000297819.3	37	c.223A>T	CCDS5816.1	.	.	.	.	.	.	.	.	.	.	A	2.358	-0.347289	0.05208	.	.	ENSG00000165120	ENST00000297819	T	0.43294	0.95	5.72	-2.61	0.06171	.	0.902018	0.09585	N	0.782326	T	0.27900	0.0687	L	0.34521	1.04	0.09310	N	1	B	0.11235	0.004	B	0.08055	0.003	T	0.30966	-0.9960	10	0.16896	T	0.51	-0.4566	11.0778	0.48043	0.4984:0.0:0.5016:0.0	.	75	Q8WWF3	CG045_HUMAN	S	75	ENSP00000297819:T75S	ENSP00000297819:T75S	T	+	1	0	C7orf45	129640595	0.000000	0.05858	0.012000	0.15200	0.383000	0.30230	-0.355000	0.07671	-0.360000	0.08138	-0.421000	0.06004	ACT		0.408	SSMEM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349768.1	NM_145268		5	66	0	0	0	1	0	5	66					T	129853359	A	T	129853359	3	4	228	1	0	0	0	0	1	0	0	0	2395	391	14	5	229	5	C7orf45	7	129853359	Missense_Mutation	SNP	A	TCGA-HC-8216-01A-11D-A29Q-08	19089454	129853359	29285304	68	10542											
C7orf45	136263	broad.mit.edu	37	chr7	129856199	129856221	+	Frame_Shift_Del	DEL	ATGGTTGGCGCACCATTCCCGAC	ATGGTTGGCGCACCATTCCCGAC	-																															aaagccttgagaaccaacgaAtggttggcgcaccattcccg																								rs144037821|rs374890168|rs200313957|rs201212488|rs146470357|rs140752649	byFrequency	TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr7:129856199_129856221delATGGTTGGCGCACCATTCCCGAC	ENST00000297819.3	+	3	675_697	c.624_646delATGGTTGGCGCACCATTCCCGAC	c.(622-648)gaatggttggcgcaccattcccgacagfs	p.WLAHHSRQ209fs		NM_145268.3	NP_660311.1	Q8WWF3	SSMM1_HUMAN	serine-rich single-pass membrane protein 1	209						integral component of membrane (GO:0016021)		p.R215R(1)									GAACCAACGAATGGTTGGCGCACCATTCCCGACAGAAGCCTTC	0.426																																						ENST00000297819.3																			1	Substitution - coding silent(1)	p.R215R(1)	lung(1)								c.(622-648)gaagfs		serine-rich single-pass membrane protein 1																																				SO:0001589	frameshift_variant	136263							g.chr7:129856199_129856221delATGGTTGGCGCACCATTCCCGAC	AK097635	CCDS5816.1	7q32.2	2013-03-08	2013-03-08	2013-03-08	ENSG00000165120	ENSG00000165120			29580	protein-coding gene	gene with protein product			"chromosome 7 open reading frame 45"	C7orf45		12477932	Standard	NM_145268		Approved	FLJ40316	uc003vpp.3	Q8WWF3	OTTHUMG00000157844	ENST00000297819.3:c.624_646delATGGTTGGCGCACCATTCCCGAC	7.37:g.129856199_129856221delATGGTTGGCGCACCATTCCCGAC	ENSP00000297819:p.Trp209fs						p.EWLAHHSRQ208fs	NM_145268.3	NP_660311.1					3	675_697	+									Frame_Shift_Del	DEL	ENST00000297819.3	37	c.624_646delATGGTTGGCGCACCATTCCCGAC	CCDS5816.1																																																																																				0.426	SSMEM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349768.1	NM_145268		7	208						7	208	---	---	---	---	-	129856221	ATGGTTGGCGCACCATTCCCGAC	-	129856199	7	5	228	1	0	1	0	1	0	0	0	0	2395	98	4	0	634	0	C7orf45	7	129856199	Frame_Shift_Del	DEL	ATGGTTGGCGCACCATTCCCGAC	TCGA-HC-8216-01A-11D-A29Q-08	2840	129856199	29282464	69	10543											
ANK1	286	broad.mit.edu	37	chr8	41529908	41529908	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ccgtcacctgactcacggtgGgggaatgtgtgattcgggct	6	10	15	10	3	2	2	2	2	0	0	3	3	2	3	2	4	0	1	2	4	1	1			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr8:41529908G>A	ENST00000347528.4	-	38	5143	c.5060C>T	c.(5059-5061)cCc>cTc	p.P1687L	ANK1_ENST00000352337.4_Missense_Mutation_p.P1687L|ANK1_ENST00000396945.1_Missense_Mutation_p.P1687L|ANK1_ENST00000265709.8_Missense_Mutation_p.P1728L|ANK1_ENST00000379758.2_Missense_Mutation_p.P1687L|ANK1_ENST00000289734.7_Missense_Mutation_p.P1687L|ANK1_ENST00000396942.1_Missense_Mutation_p.P1687L	NM_020475.2|NM_020476.2|NM_020477.2	NP_065208.2|NP_065209.2|NP_065210.2	P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	1687	55 kDa regulatory domain.				axon guidance (GO:0007411)|cytoskeleton organization (GO:0007010)|ER to Golgi vesicle-mediated transport (GO:0006888)|erythrocyte development (GO:0048821)|exocytosis (GO:0006887)|maintenance of epithelial cell apical/basal polarity (GO:0045199)|monovalent inorganic cation transport (GO:0015672)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of organelle organization (GO:0010638)|protein targeting to plasma membrane (GO:0072661)|signal transduction (GO:0007165)	axolemma (GO:0030673)|basolateral plasma membrane (GO:0016323)|cortical cytoskeleton (GO:0030863)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|M band (GO:0031430)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|cytoskeletal adaptor activity (GO:0008093)|enzyme binding (GO:0019899)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			ACTCACGGTGGGGGAATGTGT	0.557																																						ENST00000396942.1																			0				breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122						c.(5059-5061)cCc>cTc		ankyrin 1, erythrocytic							117	107	111					8																	41529908		2203	4300	6503	SO:0001583	missense	286				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton	g.chr8:41529908G>A	M28880	CCDS6119.1, CCDS6121.1, CCDS6122.1, CCDS47849.1, CCDS55227.1	8p11.21	2013-01-10			ENSG00000029534	ENSG00000029534		"Ankyrin repeat domain containing"	492	protein-coding gene	gene with protein product		612641		ANK		1689849	Standard	NM_001142445		Approved	SPH1	uc003xom.3	P16157	OTTHUMG00000150281	ENST00000347528.4:c.5060C>T	8.37:g.41529908G>A	ENSP00000339620:p.Pro1687Leu					ANK1_ENST00000289734.7_Missense_Mutation_p.P1687L|ANK1_ENST00000265709.8_Missense_Mutation_p.P1728L|ANK1_ENST00000347528.4_Missense_Mutation_p.P1687L|ANK1_ENST00000379758.2_Missense_Mutation_p.P1687L|ANK1_ENST00000396945.1_Missense_Mutation_p.P1687L|ANK1_ENST00000352337.4_Missense_Mutation_p.P1687L	p.P1687L			P16157	ANK1_HUMAN	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)		38	5143	-	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	1687			55 kDa regulatory domain.		A0PJN8|A6NJ23|E5RFL7|O43400|Q13768|Q53ER1|Q59FP2|Q8N604|Q99407	Missense_Mutation	SNP	ENST00000347528.4	37	c.5060C>T	CCDS6119.1	.	.	.	.	.	.	.	.	.	.	G	14.12	2.440060	0.43326	.	.	ENSG00000029534	ENST00000347528;ENST00000289734;ENST00000379758;ENST00000396945;ENST00000396942;ENST00000352337;ENST00000265709	T;T;T;T;T;T;T	0.32023	1.47;1.47;1.47;1.47;1.47;1.47;1.47	5.18	3.36	0.38483	.	0.057334	0.64402	D	0.000001	T	0.39835	0.1093	L	0.53249	1.67	0.58432	D	0.999999	P;P;B;B;P;P	0.52463	0.953;0.741;0.306;0.092;0.953;0.808	P;B;B;B;P;B	0.53861	0.736;0.372;0.118;0.033;0.628;0.206	T	0.21314	-1.0249	10	0.87932	D	0	.	9.6975	0.40167	0.0:0.1378:0.5767:0.2856	.	1728;1525;1687;1687;1687;841	P16157-21;P16157-4;P16157;P16157-5;P16157-3;B3KX39	.;.;ANK1_HUMAN;.;.;.	L	1687;1687;1687;1687;1687;1687;1728	ENSP00000339620:P1687L;ENSP00000289734:P1687L;ENSP00000369082:P1687L;ENSP00000380149:P1687L;ENSP00000380147:P1687L;ENSP00000309131:P1687L;ENSP00000265709:P1728L	ENSP00000265709:P1728L	P	-	2	0	ANK1	41649065	1.000000	0.71417	0.037000	0.18230	0.405000	0.30901	6.344000	0.72991	0.701000	0.31803	0.545000	0.68477	CCC		0.557	ANK1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317297.1	NM_020475		8	96	0	0	0	1	0	8	96					A	41529908	G	A	41529908	3	1	228	1	0	0	0	0	1	0	0	0	620	1232	43	3	931	3	ANK1	8	41529908	Missense_Mutation	SNP	G	TCGA-HC-8216-01A-11D-A29Q-08		41529908	104834114	70	10544											
PLAT	5327	broad.mit.edu	37	chr8	42038168	42038168	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gagccctcctttgatgcgaaActgaggctggctgtactgtc	7	11	12	11	1	0	2	0	2	0	0	2	4	1	2	2	2	4	3	2	2	2	2			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr8:42038168A>T	ENST00000220809.4	-	10	1181	c.925T>A	c.(925-927)Ttt>Att	p.F309I	PLAT_ENST00000524009.1_Missense_Mutation_p.F220I|PLAT_ENST00000352041.3_Missense_Mutation_p.F263I|PLAT_ENST00000429710.2_Missense_Mutation_p.F183I|PLAT_ENST00000429089.2_Missense_Mutation_p.F309I|PLAT_ENST00000270189.6_Intron|PLAT_ENST00000519510.1_Missense_Mutation_p.F246I	NM_000930.3	NP_000921.1	P00750	TPA_HUMAN	plasminogen activator, tissue	309					blood coagulation (GO:0007596)|cellular protein modification process (GO:0006464)|fibrinolysis (GO:0042730)|negative regulation of proteolysis (GO:0045861)|plasminogen activation (GO:0031639)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of ovulation (GO:0060279)|proteolysis (GO:0006508)|regulation of synaptic plasticity (GO:0048167)|response to cAMP (GO:0051591)|response to glucocorticoid (GO:0051384)|response to hypoxia (GO:0001666)|response to peptide hormone (GO:0043434)|smooth muscle cell migration (GO:0014909)|synaptic transmission, glutamatergic (GO:0035249)	apical part of cell (GO:0045177)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|secretory granule (GO:0030141)|synapse (GO:0045202)	serine-type endopeptidase activity (GO:0004252)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(10)|skin(1)|soft_tissue(1)|urinary_tract(1)	27	all_cancers(6;3.84e-26)|all_epithelial(6;9.61e-28)|all_lung(13;7.2e-13)|Lung NSC(13;1.18e-11)|Ovarian(28;0.00438)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211)	all_lung(54;0.000378)|Lung NSC(58;0.00145)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	BRCA - Breast invasive adenocarcinoma(8;5.23e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00135)|Colorectal(10;0.00165)|Lung(22;0.00467)|COAD - Colon adenocarcinoma(11;0.0171)|LUSC - Lung squamous cell carcinoma(45;0.024)		Aminocaproic Acid(DB00513)|Ibuprofen(DB01050)|Iloprost(DB01088)|Urokinase(DB00013)	TTGATGCGAAACTGAGGCTGG	0.632																																						ENST00000220809.4																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(10)|skin(1)|soft_tissue(1)|urinary_tract(1)	27						c.(925-927)Ttt>Att		plasminogen activator, tissue	Alteplase(DB00009)|Aminocaproic Acid(DB00513)|Anistreplase(DB00029)|Iloprost(DB01088)|Reteplase(DB00015)|Tenecteplase(DB00031)|Tranexamic Acid(DB00302)|Urokinase(DB00013)						58	55	56					8																	42038168		2203	4300	6503	SO:0001583	missense	5327				blood coagulation|fibrinolysis|negative regulation of proteolysis|protein modification process|proteolysis	cell surface|cytoplasm|extracellular space	protein binding|serine-type endopeptidase activity	g.chr8:42038168A>T		CCDS6126.1, CCDS6127.1	8p11.21	2012-10-02			ENSG00000104368	ENSG00000104368			9051	protein-coding gene	gene with protein product		173370					Standard	NM_033011		Approved		uc003xos.2	P00750	OTTHUMG00000164072	ENST00000220809.4:c.925T>A	8.37:g.42038168A>T	ENSP00000220809:p.Phe309Ile					PLAT_ENST00000519510.1_Missense_Mutation_p.F246I|PLAT_ENST00000429710.2_Missense_Mutation_p.F183I|PLAT_ENST00000524009.1_Missense_Mutation_p.F220I|PLAT_ENST00000429089.2_Missense_Mutation_p.F309I|PLAT_ENST00000352041.3_Missense_Mutation_p.F263I|PLAT_ENST00000270189.6_Intron	p.F309I	NM_000930.3	NP_000921.1	P00750	TPA_HUMAN	BRCA - Breast invasive adenocarcinoma(8;5.23e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00135)|Colorectal(10;0.00165)|Lung(22;0.00467)|COAD - Colon adenocarcinoma(11;0.0171)|LUSC - Lung squamous cell carcinoma(45;0.024)		10	1181	-	all_cancers(6;3.84e-26)|all_epithelial(6;9.61e-28)|all_lung(13;7.2e-13)|Lung NSC(13;1.18e-11)|Ovarian(28;0.00438)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211)	all_lung(54;0.000378)|Lung NSC(58;0.00145)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	309					A8K022|B2R8E8|Q15103|Q503B0|Q6PJA5|Q7Z7N2|Q86YK8|Q9BU99|Q9BZW1	Missense_Mutation	SNP	ENST00000220809.4	37	c.925T>A	CCDS6126.1	.	.	.	.	.	.	.	.	.	.	A	13.10	2.135484	0.37728	.	.	ENSG00000104368	ENST00000429089;ENST00000220809;ENST00000352041;ENST00000519510;ENST00000429710;ENST00000524009	D;D;D;D;D;D	0.88509	-2.23;-2.23;-2.39;-2.23;-2.25;-2.24	5.38	-1.47	0.08772	Peptidase cysteine/serine, trypsin-like (1);	0.363979	0.33610	N	0.004731	D	0.82820	0.5120	M	0.64404	1.975	0.80722	D	1	B;B;B;B;P;P	0.46020	0.239;0.239;0.264;0.103;0.524;0.871	B;B;B;B;B;B	0.37047	0.049;0.049;0.099;0.014;0.108;0.24	T	0.76694	-0.2865	10	0.41790	T	0.15	.	10.331	0.43823	0.6748:0.0:0.3252:0.0	.	183;220;246;309;263;309	B4DNJ1;B4DN26;B4DV92;B8ZX62;P00750-3;P00750	.;.;.;.;.;TPA_HUMAN	I	309;309;263;246;183;220	ENSP00000392045:F309I;ENSP00000220809:F309I;ENSP00000270188:F263I;ENSP00000428886:F246I;ENSP00000407861:F183I;ENSP00000429401:F220I	ENSP00000220809:F309I	F	-	1	0	PLAT	42157325	1.000000	0.71417	0.061000	0.19648	0.118000	0.20060	4.575000	0.60908	-0.401000	0.07644	-0.297000	0.09499	TTT		0.632	PLAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377100.1	NM_000930		6	58	0	0	0	1	0	6	58					T	42038168	A	T	42038168	3	4	228	1	0	0	0	0	1	0	0	0	12021	43	2	5	783	5	PLAT	8	42038168	Missense_Mutation	SNP	A	TCGA-HC-8216-01A-11D-A29Q-08	508260	42038168	104325854	71	10545											
HOOK3	84376	broad.mit.edu	37	chr8	42865543	42865544	+	Frame_Shift_Del	DEL	AA	AA	-																															aaaaatacttagagaaagccAaaagtgtaagtatgaatttt																										TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr8:42865543_42865544delAA	ENST00000307602.4	+	19	2034_2035	c.1834_1835delAA	c.(1834-1836)aaafs	p.K612fs	HOOK3_ENST00000524839.1_3'UTR	NM_032410.3	NP_115786.1	Q86VS8	HOOK3_HUMAN	hook microtubule-tethering protein 3	612	Required for association with Golgi.|Required for interaction with MSR1.				cytoplasmic microtubule organization (GO:0031122)|early endosome to late endosome transport (GO:0045022)|endosome organization (GO:0007032)|endosome to lysosome transport (GO:0008333)|Golgi localization (GO:0051645)|interkinetic nuclear migration (GO:0022027)|lysosome organization (GO:0007040)|microtubule anchoring at centrosome (GO:0034454)|negative regulation of neurogenesis (GO:0050768)|neuronal stem cell maintenance (GO:0097150)|protein localization to centrosome (GO:0071539)|protein transport (GO:0015031)	centriolar satellite (GO:0034451)|centrosome (GO:0005813)|cis-Golgi network (GO:0005801)|cytoplasm (GO:0005737)|FHF complex (GO:0070695)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|microtubule organizing center (GO:0005815)|pericentriolar material (GO:0000242)	identical protein binding (GO:0042802)|microtubule binding (GO:0008017)			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	31	Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.000105)|Lung NSC(58;0.000419)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	Lung(22;0.048)|LUSC - Lung squamous cell carcinoma(45;0.114)			AGAGAAAGCCAAAAGTGTAAGT	0.342			T	RET	papillary thyroid																																	ENST00000307602.4				Dom	yes		8	8p11.21	84376	T	hook homolog 3			E	RET		papillary thyroid		0				NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	31						c.(1834-1836)afs		hook microtubule-tethering protein 3																																				SO:0001589	frameshift_variant	84376				cytoplasmic microtubule organization|early endosome to late endosome transport|endosome organization|endosome to lysosome transport|Golgi localization|interkinetic nuclear migration|lysosome organization|microtubule anchoring|negative regulation of neurogenesis|protein localization to centrosome|protein transport	cis-Golgi network|FHF complex|microtubule|pericentriolar material	identical protein binding|microtubule binding	g.chr8:42865543_42865544delAA	AK090540	CCDS6139.1	8p11.21	2013-08-21	2013-08-21		ENSG00000168172	ENSG00000168172			23576	protein-coding gene	gene with protein product		607825	"hook homolog 3 (Drosophila)"			9927460	Standard	NM_032410		Approved	HK3	uc003xpr.3	Q86VS8	OTTHUMG00000165278	ENST00000307602.4:c.1834_1835delAA	8.37:g.42865545_42865546delAA	ENSP00000305699:p.Lys612fs					HOOK3_ENST00000524839.1_3'UTR	p.K612fs	NM_032410.3	NP_115786.1	Q86VS8	HOOK3_HUMAN	Lung(22;0.048)|LUSC - Lung squamous cell carcinoma(45;0.114)		19	2034_2035	+	Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.000105)|Lung NSC(58;0.000419)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	612			Required for association with Golgi.|Required for interaction with MSR1.		D3DSY8|Q8NBH0|Q9BY13	Frame_Shift_Del	DEL	ENST00000307602.4	37	c.1834_1835delAA	CCDS6139.1																																																																																				0.342	HOOK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383172.2	NM_032410		2	4						2	4	---	---	---	---	-	42865544	AA	-	42865543	7	5	228	1	0	1	0	1	0	0	0	0	7284	131	5	0	1908	0	HOOK3	8	42865543	Frame_Shift_Del	DEL	AA	TCGA-HC-8216-01A-11D-A29Q-08	827375	42865543	103498479	72	10546											
CHD7	55636	broad.mit.edu	37	chr8	61654328	61654328	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	acacccctcccgttcctcagGtgccccatggtggcagtggt	5	9	11	16	1	1	0	1	0	0	0	3	0	3	0	6	4	1	2	6	4	0	1			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr8:61654328G>C	ENST00000423902.2	+	2	816	c.337G>C	c.(337-339)Gtg>Ctg	p.V113L	CHD7_ENST00000524602.1_Missense_Mutation_p.V113L|CHD7_ENST00000525508.1_Missense_Mutation_p.V113L	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	113					adult heart development (GO:0007512)|adult walking behavior (GO:0007628)|artery morphogenesis (GO:0048844)|blood circulation (GO:0008015)|central nervous system development (GO:0007417)|chromatin modification (GO:0016568)|cognition (GO:0050890)|cranial nerve development (GO:0021545)|embryonic hindlimb morphogenesis (GO:0035116)|epithelium development (GO:0060429)|face development (GO:0060324)|female genitalia development (GO:0030540)|genitalia development (GO:0048806)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|inner ear morphogenesis (GO:0042472)|limb development (GO:0060173)|nose development (GO:0043584)|olfactory behavior (GO:0042048)|olfactory bulb development (GO:0021772)|olfactory nerve development (GO:0021553)|palate development (GO:0060021)|positive regulation of multicellular organism growth (GO:0040018)|regulation of growth hormone secretion (GO:0060123)|regulation of neurogenesis (GO:0050767)|regulation of transcription, DNA-templated (GO:0006355)|retina development in camera-type eye (GO:0060041)|rRNA processing (GO:0006364)|semicircular canal morphogenesis (GO:0048752)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|T cell differentiation (GO:0030217)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			CGTTCCTCAGGTGCCCCATGG	0.592																																						ENST00000423902.2																			0				NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123						c.(337-339)Gtg>Ctg		chromodomain helicase DNA binding protein 7							43	49	47					8																	61654328		2149	4249	6398	SO:0001583	missense	55636				central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent	nucleus	ATP binding|chromatin binding|DNA binding|helicase activity	g.chr8:61654328G>C	AB037837	CCDS47865.1	8q12.2	2014-09-17				ENSG00000171316			20626	protein-coding gene	gene with protein product		608892	"CHARGE association"	CRG		15300250, 18834967	Standard	NM_017780		Approved	KIAA1416, FLJ20357, FLJ20361	uc003xue.3	Q9P2D1		ENST00000423902.2:c.337G>C	8.37:g.61654328G>C	ENSP00000392028:p.Val113Leu					CHD7_ENST00000524602.1_Missense_Mutation_p.V113L|CHD7_ENST00000525508.1_Missense_Mutation_p.V113L	p.V113L	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.143)		2	816	+		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	113					D0VBA5|E9PNZ2|Q05DI5|Q2TAN4|Q66K35|Q7Z6C0|Q7Z7Q2|Q9NXA0|Q9NXA3	Missense_Mutation	SNP	ENST00000423902.2	37	c.337G>C	CCDS47865.1	.	.	.	.	.	.	.	.	.	.	G	15.19	2.759223	0.49468	.	.	ENSG00000171316	ENST00000307121;ENST00000423902;ENST00000524602;ENST00000525508	T;T;T	0.53206	0.63;0.63;0.63	5.36	5.36	0.76844	.	0.000000	0.36268	N	0.002683	T	0.53270	0.1786	N	0.22421	0.69	0.46011	D	0.99881	P	0.44690	0.841	P	0.55824	0.785	T	0.55761	-0.8090	10	0.56958	D	0.05	-12.2606	19.0882	0.93215	0.0:0.0:1.0:0.0	.	113	Q9P2D1	CHD7_HUMAN	L	113	ENSP00000392028:V113L;ENSP00000437061:V113L;ENSP00000436027:V113L	ENSP00000307304:V113L	V	+	1	0	CHD7	61816882	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.242000	0.78210	2.531000	0.85337	0.585000	0.79938	GTG		0.592	CHD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383468.2	XM_098762		7	34	0	0	0	1	0	7	34					C	61654328	G	C	61654328	3	2	228	1	0	0	0	0	1	0	0	0	3330	1261	44	5	339	5	CHD7	8	61654328	Missense_Mutation	SNP	G	TCGA-HC-8216-01A-11D-A29Q-08	18788785	61654328	84709694	73	10547											
RUNX1T1	862	broad.mit.edu	37	chr8	92999165	92999165	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttctctgtctgttagtctgtGatcaatcatttcttcttgac	6	20	6	9	0	7	2	2	2	5	0	8	2	7	2	0	0	0	1	0	0	2	5			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr8:92999165G>C	ENST00000523629.1	-	8	1481	c.1027C>G	c.(1027-1029)Cac>Gac	p.H343D	RUNX1T1_ENST00000396218.1_Missense_Mutation_p.H316D|RUNX1T1_ENST00000360348.2_Missense_Mutation_p.H306D|RUNX1T1_ENST00000265814.3_Missense_Mutation_p.H343D|RUNX1T1_ENST00000436581.2_Missense_Mutation_p.H354D|RUNX1T1_ENST00000422361.2_Missense_Mutation_p.H306D|RUNX1T1_ENST00000518844.1_Missense_Mutation_p.H316D|RUNX1T1_ENST00000520724.1_Missense_Mutation_p.H306D	NM_001198626.1|NM_001198630.1|NM_001198633.1|NM_175634.2	NP_001185555.1|NP_001185559.1|NP_001185562.1|NP_783552.1	Q06455	MTG8_HUMAN	runt-related transcription factor 1; translocated to, 1 (cyclin D-related)	343	Important for oligomerization.				fat cell differentiation (GO:0045444)|generation of precursor metabolites and energy (GO:0006091)|regulation of DNA binding (GO:0051101)|transcription, DNA-templated (GO:0006351)	nuclear matrix (GO:0016363)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.H306N(1)|p.H354N(1)|p.H343N(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	86			BRCA - Breast invasive adenocarcinoma(11;0.0141)			GTTAGTCTGTGATCAATCATT	0.388																																						ENST00000523629.1																			3	Substitution - Missense(3)	p.H306N(1)|p.H354N(1)|p.H343N(1)	endometrium(3)	NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	86						c.(1027-1029)Cac>Gac		runt-related transcription factor 1; translocated to, 1 (cyclin D-related)							255	224	235					8																	92999165		2203	4300	6503	SO:0001583	missense	862				generation of precursor metabolites and energy	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:92999165G>C	D43638	CCDS6256.1, CCDS6257.1, CCDS47891.1, CCDS56544.1, CCDS75766.1, CCDS75767.1	8q22	2007-01-29	2005-01-20	2005-01-22	ENSG00000079102	ENSG00000079102		"Zinc fingers, MYND-type"	1535	protein-coding gene	gene with protein product		133435	"core-binding factor, runt domain, alpha subunit 2; translocated to, 1; cyclin D-related"	AML1T1, CBFA2T1		1391946, 9790752	Standard	NM_004349		Approved	CDR, ETO, MTG8, ZMYND2	uc011lgi.2	Q06455	OTTHUMG00000164066	ENST00000523629.1:c.1027C>G	8.37:g.92999165G>C	ENSP00000428543:p.His343Asp					RUNX1T1_ENST00000265814.3_Missense_Mutation_p.H343D|RUNX1T1_ENST00000360348.2_Missense_Mutation_p.H306D|RUNX1T1_ENST00000422361.2_Missense_Mutation_p.H306D|RUNX1T1_ENST00000396218.1_Missense_Mutation_p.H316D|RUNX1T1_ENST00000518844.1_Missense_Mutation_p.H316D|RUNX1T1_ENST00000436581.2_Missense_Mutation_p.H354D|RUNX1T1_ENST00000520724.1_Missense_Mutation_p.H306D	p.H343D	NM_001198626.1|NM_001198630.1|NM_001198633.1|NM_175634.2	NP_001185555.1|NP_001185559.1|NP_001185562.1|NP_783552.1	Q06455	MTG8_HUMAN	BRCA - Breast invasive adenocarcinoma(11;0.0141)		8	1481	-			343			Important for oligomerization.		B7Z4P4|E7EPN4|O14784|Q06456|Q14873|Q16239|Q16346|Q16347|Q6IBL1|Q6NXH1|Q7Z4J5|Q92479|Q9BRZ0	Missense_Mutation	SNP	ENST00000523629.1	37	c.1027C>G	CCDS6256.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.988419	0.74589	.	.	ENSG00000079102	ENST00000523629;ENST00000396218;ENST00000265814;ENST00000360348;ENST00000422361;ENST00000520724;ENST00000436581;ENST00000518844	T;T;T;T;T;T;T;T	0.47869	0.83;0.83;0.83;0.83;0.83;0.83;0.83;0.83	5.39	5.39	0.77823	NHR2-like (1);	0.095971	0.64402	D	0.000001	T	0.57431	0.2053	L	0.51422	1.61	0.80722	D	1	B;P;B	0.45768	0.399;0.866;0.248	B;P;B	0.51297	0.147;0.665;0.149	T	0.58255	-0.7668	10	0.56958	D	0.05	-19.3213	19.1841	0.93635	0.0:0.0:1.0:0.0	.	354;343;316	E7EPN4;Q06455;Q06455-2	.;MTG8_HUMAN;.	D	343;316;343;306;306;306;354;316	ENSP00000428543:H343D;ENSP00000379520:H316D;ENSP00000265814:H343D;ENSP00000353504:H306D;ENSP00000390137:H306D;ENSP00000428742:H306D;ENSP00000402257:H354D;ENSP00000430728:H316D	ENSP00000265814:H343D	H	-	1	0	RUNX1T1	93068341	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.476000	0.97823	2.537000	0.85549	0.655000	0.94253	CAC		0.388	RUNX1T1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000377045.3	NM_004349, NM_175635		8	171	0	0	0	1	0	8	171					C	92999165	G	C	92999165	3	2	228	1	0	0	0	0	1	0	0	0	13747	1290	45	5	807	5	RUNX1T1	8	92999165	Missense_Mutation	SNP	G	TCGA-HC-8216-01A-11D-A29Q-08	31344837	92999165	53364857	74	10548											
TMEM71	137835	broad.mit.edu	37	chr8	133740185	133740185	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacagactctgcattcatctTccctgactcccagtcatcag	9	11	5	16	0	5	2	3	1	2	1	7	2	7	2	2	0	1	1	2	0	0	2			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr8:133740185T>C	ENST00000356838.3	-	6	620	c.478A>G	c.(478-480)Aag>Gag	p.K160E	TMEM71_ENST00000523829.1_Missense_Mutation_p.K179E|TMEM71_ENST00000377901.4_Intron	NM_144649.2	NP_653250.2	Q6P5X7	TMM71_HUMAN	transmembrane protein 71	179						integral component of membrane (GO:0016021)				endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|skin(2)	16	all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;4.46e-05)			GCATTCATCTTCCCTGACTCC	0.488																																						ENST00000356838.3																			0				endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|skin(2)	16						c.(478-480)Aag>Gag		transmembrane protein 71							110	104	106					8																	133740185		2203	4300	6503	SO:0001583	missense	137835					integral to membrane		g.chr8:133740185T>C	AK057631	CCDS6366.1, CCDS47921.1	8q24.22	2005-09-02				ENSG00000165071			26572	protein-coding gene	gene with protein product						12477932	Standard	NM_144649		Approved	FLJ33069	uc003ytn.3	Q6P5X7		ENST00000356838.3:c.478A>G	8.37:g.133740185T>C	ENSP00000349296:p.Lys160Glu					TMEM71_ENST00000523829.1_Missense_Mutation_p.K179E|TMEM71_ENST00000377901.4_Intron	p.K160E	NM_144649.2	NP_653250.2	Q6P5X7	TMM71_HUMAN	BRCA - Breast invasive adenocarcinoma(115;4.46e-05)		6	620	-	all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155)		179					Q3KRC2|Q8WVZ4|Q96LX9	Missense_Mutation	SNP	ENST00000356838.3	37	c.478A>G	CCDS6366.1	.	.	.	.	.	.	.	.	.	.	T	16.85	3.237555	0.58886	.	.	ENSG00000165071	ENST00000523829;ENST00000356838	.	.	.	6.02	-7.83	0.01201	.	1.099230	0.06816	N	0.791291	T	0.38268	0.1034	M	0.65975	2.015	0.09310	N	1	B;B	0.14438	0.01;0.01	B;B	0.13407	0.009;0.009	T	0.27226	-1.0080	9	0.16420	T	0.52	0.3228	9.4074	0.38471	0.0:0.4631:0.348:0.1889	.	179;160	Q6P5X7;Q6P5X7-2	TMM71_HUMAN;.	E	179;160	.	ENSP00000349296:K160E	K	-	1	0	TMEM71	133809367	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.653000	0.05360	-1.539000	0.01732	-0.250000	0.11733	AAG		0.488	TMEM71-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379591.1	NM_144649		8	109	0	0	0	1	0	8	109					C	133740185	T	C	133740185	3	2	228	1	0	0	0	0	1	0	0	0	16197	1792	62	4	372	4	TMEM71	8	133740185	Missense_Mutation	SNP	T	TCGA-HC-8216-01A-11D-A29Q-08	40741020	133740185	12623837	75	10549											
ST3GAL1	6482	broad.mit.edu	37	chr8	134488181	134488181	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gtggtggccaccatggtgtgGgagtagttcaggaagaagga	10	8	18	5	0	1	1	1	0	0	1	1	4	1	4	2	6	0	2	2	6	3	2			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr8:134488181G>C	ENST00000319914.5	-	4	1114	c.87C>G	c.(85-87)tcC>tcG	p.S29S	ST3GAL1_ENST00000399640.2_Silent_p.S29S|ST3GAL1_ENST00000519435.1_5'Flank|ST3GAL1_ENST00000522652.1_Silent_p.S29S|ST3GAL1_ENST00000521180.1_Silent_p.S29S			Q11201	SIA4A_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase 1	29					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|cellular protein modification process (GO:0006464)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|N-acetylneuraminate metabolic process (GO:0006054)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation (GO:0006487)|protein phosphorylation (GO:0006468)|sialylation (GO:0097503)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)|membrane (GO:0016020)	beta-galactoside (CMP) alpha-2,3-sialyltransferase activity (GO:0003836)			endometrium(3)|large_intestine(2)|lung(11)|prostate(1)	17	all_epithelial(106;1.53e-23)|Lung NSC(106;3.15e-07)|all_lung(105;1.26e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.00721)			CCATGGTGTGGGAGTAGTTCA	0.572																																						ENST00000319914.5																			0				endometrium(3)|large_intestine(2)|lung(11)|prostate(1)	17						c.(85-87)tcC>tcG		ST3 beta-galactoside alpha-2,3-sialyltransferase 1							100	92	95					8																	134488181		2203	4300	6503	SO:0001819	synonymous_variant	6482				protein glycosylation	extracellular region|Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,3-sialyltransferase activity	g.chr8:134488181G>C	L29555	CCDS6373.1	8q24.22	2013-03-01	2003-01-14	2005-02-07	ENSG00000008513	ENSG00000008513	2.4.99.4	"Sialyltransferases"	10862	protein-coding gene	gene with protein product	"ST3Gal I"	607187	"sialyltransferase 4A (beta-galactosidase alpha-2,3-sialytransferase)"	SIAT4A		10504389, 7655169	Standard	NM_003033		Approved	ST3O, SIATFL, ST3GalA.1	uc003yuk.2	Q11201	OTTHUMG00000164534	ENST00000319914.5:c.87C>G	8.37:g.134488181G>C						ST3GAL1_ENST00000521180.1_Silent_p.S29S|ST3GAL1_ENST00000522652.1_Silent_p.S29S|ST3GAL1_ENST00000399640.2_Silent_p.S29S	p.S29S			Q11201	SIA4A_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.00721)		4	1114	-	all_epithelial(106;1.53e-23)|Lung NSC(106;3.15e-07)|all_lung(105;1.26e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)		29					O60677|Q9UN51	Silent	SNP	ENST00000319914.5	37	c.87C>G	CCDS6373.1																																																																																				0.572	ST3GAL1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379132.1	NM_003033		4	125	0	0	0	1	0	4	125					C	134488181	G	C	134488181	2	2	228	1	0	0	0	0	0	0	0	1	15213	1219	43	5		5	ST3GAL1	8	134488181	Silent	SNP	G	TCGA-HC-8216-01A-11D-A29Q-08	747996	134488181	11875841	76	10550											
ARC	23237	broad.mit.edu	37	chr8	143694473	143694473	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gggtccggtcactggccacgGactcgctgttgggggcgggc	3	7	19	12	4	1	0	1	0	0	0	3	1	2	1	2	7	0	2	2	7	0	1			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr8:143694473G>A	ENST00000356613.2	-	1	2360	c.1160C>T	c.(1159-1161)tCc>tTc	p.S387F	ARC_ENST00000581404.1_5'Flank	NM_015193.4	NP_056008.1	O60936	NOL3_HUMAN	activity-regulated cytoskeleton-associated protein	0					apoptotic process (GO:0006915)|mRNA processing (GO:0006397)|negative regulation of apoptotic process (GO:0043066)|regulation of gene expression (GO:0010468)|response to hypoxia (GO:0001666)|response to injury involved in regulation of muscle adaptation (GO:0014876)|RNA splicing (GO:0008380)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|sarcoplasm (GO:0016528)	identical protein binding (GO:0042802)|RNA binding (GO:0003723)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(3)|upper_aerodigestive_tract(1)	13	all_cancers(97;3.55e-12)|all_epithelial(106;1.03e-08)|Lung NSC(106;0.000353)|all_lung(105;0.00092)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;0.0279)				ACTGGCCACGGACTCGCTGTT	0.701																																						ENST00000356613.2																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(3)|upper_aerodigestive_tract(1)	13						c.(1159-1161)tCc>tTc		activity-regulated cytoskeleton-associated protein							7	8	8					8																	143694473		2154	4244	6398	SO:0001583	missense	23237				endocytosis	acrosomal vesicle|cell junction|dendritic spine|endosome|postsynaptic density|postsynaptic membrane		g.chr8:143694473G>A	AF193421	CCDS34950.1	8q24.3	2008-08-01			ENSG00000198576	ENSG00000198576			648	protein-coding gene	gene with protein product		612461				10970730, 17466953	Standard	NM_015193		Approved	KIAA0278, Arg3.1	uc003ywn.2	Q7LC44	OTTHUMG00000134310	ENST00000356613.2:c.1160C>T	8.37:g.143694473G>A	ENSP00000349022:p.Ser387Phe						p.S387F	NM_015193.3	NP_056008.1	Q7LC44	ARC_HUMAN			1	2360	-	all_cancers(97;3.55e-12)|all_epithelial(106;1.03e-08)|Lung NSC(106;0.000353)|all_lung(105;0.00092)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;0.0279)	387					B4DFL0|O60937	Missense_Mutation	SNP	ENST00000356613.2	37	c.1160C>T	CCDS34950.1	.	.	.	.	.	.	.	.	.	.	G	11.54	1.669429	0.29693	.	.	ENSG00000198576	ENST00000356613	T	0.44482	0.92	4.75	4.75	0.60458	.	0.127326	0.35466	U	0.003194	T	0.31451	0.0797	N	0.14661	0.345	0.18873	N	0.999986	D	0.54207	0.965	P	0.44811	0.461	T	0.23119	-1.0197	10	0.59425	D	0.04	.	14.9125	0.70770	0.0:0.0:1.0:0.0	.	387	Q7LC44	ARC_HUMAN	F	387	ENSP00000349022:S387F	ENSP00000349022:S387F	S	-	2	0	ARC	143691475	0.982000	0.34865	0.554000	0.28268	0.053000	0.15095	6.146000	0.71777	2.189000	0.69895	0.563000	0.77884	TCC		0.701	ARC-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259274.2			6	24	0	0	0	1	0	6	24					A	143694473	G	A	143694473	3	1	228	1	0	0	0	0	1	0	0	0	841	1174	41	3	34	3	ARC	8	143694473	Missense_Mutation	SNP	G	TCGA-HC-8216-01A-11D-A29Q-08	9206292	143694473	2669549	77	10551											
GLDC	2731	broad.mit.edu	37	chr9	6554725	6554725	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggggaatgcagaaggtcttGtgaagatttaggtgcgagac	11	10	16	4	1	1	4	0	1	1	3	1	6	1	5	0	4	2	1	0	4	4	3			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr9:6554725G>T	ENST00000321612.6	-	19	2409	c.2259C>A	c.(2257-2259)caC>caA	p.H753Q		NM_000170.2	NP_000161.2	P23378	GCSP_HUMAN	glycine dehydrogenase (decarboxylating)	753					glycine catabolic process (GO:0006546)	mitochondrion (GO:0005739)	electron carrier activity (GO:0009055)|glycine dehydrogenase (decarboxylating) activity (GO:0004375)|lyase activity (GO:0016829)|pyridoxal phosphate binding (GO:0030170)			cervix(1)|endometrium(2)|large_intestine(5)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		Acute lymphoblastic leukemia(23;0.161)		GBM - Glioblastoma multiforme(50;0.0421)|Lung(218;0.134)	Glycine(DB00145)	AGAAGGTCTTGTGAAGATTTA	0.542																																						ENST00000321612.6																			0				cervix(1)|endometrium(2)|large_intestine(5)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						c.(2257-2259)caC>caA		glycine dehydrogenase (decarboxylating)	Glycine(DB00145)|Pyridoxal Phosphate(DB00114)						63	54	57					9																	6554725		2203	4300	6503	SO:0001583	missense	2731				glycine catabolic process	mitochondrion	electron carrier activity|glycine dehydrogenase (decarboxylating) activity|lyase activity|pyridoxal phosphate binding	g.chr9:6554725G>T	D90239	CCDS34987.1	9p22	2014-09-17	2006-05-22		ENSG00000178445	ENSG00000178445	1.4.4.2		4313	protein-coding gene	gene with protein product	"glycine cleavage system protein P", "glycine decarboxylase"	238300	"glycine dehydrogenase (decarboxylating; glycine decarboxylase, glycine cleavage system protein P)"			1993704, 1996985	Standard	NM_000170		Approved	GCSP, NKH	uc003zkc.3	P23378	OTTHUMG00000019524	ENST00000321612.6:c.2259C>A	9.37:g.6554725G>T	ENSP00000370737:p.His753Gln						p.H753Q	NM_000170.2	NP_000161.2	P23378	GCSP_HUMAN		GBM - Glioblastoma multiforme(50;0.0421)|Lung(218;0.134)	19	2409	-		Acute lymphoblastic leukemia(23;0.161)	753					Q2M2F8	Missense_Mutation	SNP	ENST00000321612.6	37	c.2259C>A	CCDS34987.1	.	.	.	.	.	.	.	.	.	.	G	24.0	4.482427	0.84747	.	.	ENSG00000178445	ENST00000321612	D	0.98862	-5.19	5.37	4.46	0.54185	Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.000000	0.85682	D	0.000000	D	0.99551	0.9839	H	0.99435	4.565	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.97593	1.0118	10	0.87932	D	0	-21.5165	14.2315	0.65895	0.0724:0.0:0.9276:0.0	.	753	P23378	GCSP_HUMAN	Q	753	ENSP00000370737:H753Q	ENSP00000370737:H753Q	H	-	3	2	GLDC	6544725	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	3.824000	0.55723	1.390000	0.46547	0.462000	0.41574	CAC		0.542	GLDC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051674.2	NM_000170		3	23	1	0	0.00909568	1	0.0094186	3	23					T	6554725	G	T	6554725	3	4	228	1	0	0	0	0	1	0	0	0	6433	1368	48	5	831	5	GLDC	9	6554725	Missense_Mutation	SNP	G	TCGA-HC-8216-01A-11D-A29Q-08		6554725	134658706	78	10552											
TRPM6	140803	broad.mit.edu	37	chr9	77390917	77390917	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ggcagccagggcttctcgtgGtaggtcatgatgtagcgata	8	10	15	8	2	2	1	1	1	1	0	3	2	2	1	1	4	2	4	1	4	3	4			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr9:77390917G>T	ENST00000360774.1	-	24	3522	c.3285C>A	c.(3283-3285)taC>taA	p.Y1095*	TRPM6_ENST00000376864.4_Nonsense_Mutation_p.Y1095*|TRPM6_ENST00000376871.3_Intron|TRPM6_ENST00000449912.2_Nonsense_Mutation_p.Y1090*|TRPM6_ENST00000451710.3_Nonsense_Mutation_p.Y1095*|TRPM6_ENST00000376872.3_Intron|TRPM6_ENST00000361255.3_Nonsense_Mutation_p.Y1090*	NM_017662.4	NP_060132.3	Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	1095					calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|response to toxic substance (GO:0009636)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium channel activity (GO:0005262)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						GCTTCTCGTGGTAGGTCATGA	0.522																																						ENST00000451710.3																			0				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						c.(3283-3285)taC>taA		transient receptor potential cation channel, subfamily M, member 6							115	124	121					9																	77390917		2203	4300	6503	SO:0001587	stop_gained	140803				response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr9:77390917G>T	AK026281	CCDS6647.1, CCDS55318.1, CCDS55319.1	9q21.13	2011-12-14	2003-12-02		ENSG00000119121	ENSG00000119121		"Voltage-gated ion channels / Transient receptor potential cation channels"	17995	protein-coding gene	gene with protein product		607009	"hypomagnesemia, secondary hypocalcemia"	HOMG, HSH		10021370, 12032570, 16382100	Standard	NM_017662		Approved	CHAK2, FLJ22628	uc004ajk.1	Q9BX84	OTTHUMG00000020027	ENST00000360774.1:c.3285C>A	9.37:g.77390917G>T	ENSP00000354006:p.Tyr1095*					TRPM6_ENST00000361255.3_Nonsense_Mutation_p.Y1090*|TRPM6_ENST00000449912.2_Nonsense_Mutation_p.Y1090*|TRPM6_ENST00000376864.4_Nonsense_Mutation_p.Y1095*|TRPM6_ENST00000376871.3_Intron|TRPM6_ENST00000376872.3_Intron|TRPM6_ENST00000360774.1_Nonsense_Mutation_p.Y1095*	p.Y1095*			Q9BX84	TRPM6_HUMAN			24	3522	-			1095					Q6VPR8|Q6VPR9|Q6VPS0|Q6VPS1|Q6VPS2	Nonsense_Mutation	SNP	ENST00000360774.1	37	c.3285C>A	CCDS6647.1	.	.	.	.	.	.	.	.	.	.	G	39	7.901617	0.98551	.	.	ENSG00000119121	ENST00000360774;ENST00000451710;ENST00000449912;ENST00000361255;ENST00000376864;ENST00000312449;ENST00000448641	.	.	.	5.76	1.28	0.21552	.	0.167059	0.56097	D	0.000036	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.9288	0.52835	0.3788:0.0:0.6212:0.0	.	.	.	.	X	1095;1095;1090;1090;1095;758;758	.	ENSP00000309693:Y758X	Y	-	3	2	TRPM6	76580737	1.000000	0.71417	0.743000	0.31040	0.555000	0.35460	1.425000	0.34859	0.350000	0.24002	0.591000	0.81541	TAC		0.522	TRPM6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000052693.1	NM_017662		6	113	1	0	0.00116845	1	0.00127005	6	113					T	77390917	G	T	77390917	4	4	228	1	0	0	0	0	0	1	0	0	16587	1256	44	5	2847	5	TRPM6	9	77390917	Nonsense_Mutation	SNP	G	TCGA-HC-8216-01A-11D-A29Q-08	70836192	77390917	63822514	79	10553											
OR13C5	138799	broad.mit.edu	37	chr9	107361057	107361057	+	Nonsense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	acgtgtaagagacaataattAataacaaaggtgtcaatagg	19	9	9	4	1	1	1	1	0	0	1	1	2	1	1	0	2	1	1	0	2	8	5			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr9:107361057A>T	ENST00000374779.2	-	1	731	c.638T>A	c.(637-639)tTa>tAa	p.L213*		NM_001004482.1	NP_001004482.1	Q8NGS8	O13C5_HUMAN	olfactory receptor, family 13, subfamily C, member 5	213						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(4)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|pancreas(2)|prostate(2)|skin(4)	28						GACAATAATTAATAACAAAGG	0.423																																						ENST00000374779.2																			0				endometrium(4)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|pancreas(2)|prostate(2)|skin(4)	28						c.(637-639)tTa>tAa		olfactory receptor, family 13, subfamily C, member 5							141	134	136					9																	107361057		2203	4300	6503	SO:0001587	stop_gained	138799				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:107361057A>T		CCDS35091.1	9q31.1	2012-10-03			ENSG00000255800	ENSG00000277556		"GPCR / Class A : Olfactory receptors"	15100	protein-coding gene	gene with protein product							Standard	NM_001004482		Approved		uc011lvp.2	Q8NGS8	OTTHUMG00000020408	ENST00000374779.2:c.638T>A	9.37:g.107361057A>T	ENSP00000363911:p.Leu213*						p.L213*	NM_001004482.1	NP_001004482.1	Q8NGS8	O13C5_HUMAN			1	731	-			213					B2RNE5|B9EGW5|Q6IF53	Nonsense_Mutation	SNP	ENST00000374779.2	37	c.638T>A	CCDS35091.1	.	.	.	.	.	.	.	.	.	.	A	33	5.253696	0.95336	.	.	ENSG00000255800	ENST00000374779	.	.	.	4.03	2.89	0.33648	.	0.000000	0.30043	U	0.010554	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	7.3735	0.26815	0.8922:0.0:0.1078:0.0	.	.	.	.	X	213	.	ENSP00000363911:L213X	L	-	2	0	OR13C5	106400878	0.012000	0.17670	0.002000	0.10522	0.694000	0.40290	2.153000	0.42282	0.627000	0.30340	0.347000	0.21830	TTA		0.423	OR13C5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053479.2	NM_001004482		8	176	0	0	0	1	0	8	176					T	107361057	A	T	107361057	4	4	228	1	0	0	0	0	0	1	0	0	10937	372	13	5	320	5	OR13C5	9	107361057	Nonsense_Mutation	SNP	A	TCGA-HC-8216-01A-11D-A29Q-08	29970140	107361057	33852374	80	10554											
CELF2	10659	broad.mit.edu	37	chr10	11317020	11317020	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccttgtgtgttcatccgcagCtcctgcagcaggccacctcc	5	10	9	17	1	1	0	1	0	0	0	4	0	4	0	6	1	3	5	6	1	0	2	rs200272355		TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr10:11317020C>A	ENST00000379261.4	+	8	849	c.757C>A	c.(757-759)Ctc>Atc	p.L253I	CELF2_ENST00000542579.1_Splice_Site_p.L260I|CELF2_ENST00000399850.3_Splice_Site_p.L229I|CELF2_ENST00000609692.1_Splice_Site_p.L229I|CELF2_ENST00000537122.1_Splice_Site_p.L142I|CELF2_ENST00000427450.1_Splice_Site_p.L229I|CELF2_ENST00000354897.3_Splice_Site_p.L229I|CELF2_ENST00000354440.2_Splice_Site_p.L229I|CELF2_ENST00000417956.2_Splice_Site_p.L229I|CELF2_ENST00000315874.4_Splice_Site_p.L229I|CELF2_ENST00000608830.1_Splice_Site_p.L229I|CELF2_ENST00000450189.1_Splice_Site_p.L260I|CELF2_ENST00000416382.2_Splice_Site_p.L253I	NM_001025077.2	NP_001020248.1	O95319	CELF2_HUMAN	CUGBP, Elav-like family member 2	253	Necessary for RNA-binding, TNNT2 exon 5 and NMDA R1 exon 21 inclusion.				mRNA processing (GO:0006397)|regulation of heart contraction (GO:0008016)|RNA processing (GO:0006396)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	16						TCATCCGCAGCTCCTGCAGCA	0.527																																						ENST00000379261.4																			0				breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	16						c.e8-1		CUGBP, Elav-like family member 2							153	162	159					10																	11317020		2150	4244	6394	SO:0001630	splice_region_variant	10659				mRNA processing|regulation of heart contraction	cytoplasm|nucleus	nucleotide binding|protein binding|RNA binding	g.chr10:11317020C>A	U69546	CCDS41488.1, CCDS44354.1, CCDS44355.1, CCDS44356.1	10p13	2013-02-12	2010-02-19	2010-02-19	ENSG00000048740	ENSG00000048740		"RNA binding motif (RRM) containing"	2550	protein-coding gene	gene with protein product		602538	"CUG triplet repeat, RNA-binding protein 2", "CUG triplet repeat, RNA binding protein 2"	CUGBP2		7869393, 9887331	Standard	NM_006561		Approved	Etr-3, NAPOR-2, BRUNOL3	uc001ikl.4	O95319	OTTHUMG00000017668	ENST00000379261.4:c.757-1C>A	10.37:g.11317020C>A						CELF2_ENST00000399850.3_Splice_Site_p.L229_splice|CELF2_ENST00000417956.2_Splice_Site_p.L229_splice|CELF2_ENST00000416382.2_Splice_Site_p.L253_splice|CELF2_ENST00000354440.2_Splice_Site_p.L229_splice|CELF2_ENST00000450189.1_Splice_Site_p.L260_splice|CELF2_ENST00000542579.1_Splice_Site_p.L260_splice|CELF2_ENST00000427450.1_Splice_Site_p.L229_splice|CELF2_ENST00000354897.3_Splice_Site_p.L229_splice|CELF2_ENST00000537122.1_Splice_Site_p.L142_splice|CELF2_ENST00000315874.3_Splice_Site_p.L229_splice	p.L253_splice	NM_001025077.2	NP_001020248.1	O95319	CELF2_HUMAN			8	849	+			253			Necessary for RNA-binding, TNNT2 exon 5 and NMDA R1 exon 21 inclusion.		B7ZAN9|Q7KYU4|Q8N499|Q92950|Q96NW9|Q96RQ5|Q96RQ6|Q9UL67	Splice_Site	SNP	ENST00000379261.4	37	c.756_splice	CCDS44354.1	.	.	.	.	.	.	.	.	.	.	C	16.92	3.255308	0.59321	.	.	ENSG00000048740	ENST00000379261;ENST00000416382;ENST00000450189;ENST00000542579;ENST00000399850;ENST00000417956;ENST00000315874;ENST00000354440;ENST00000354897;ENST00000427450;ENST00000537122;ENST00000538632	D;D;T;T;T;T;T;T;T;T	0.81821	-1.54;-1.54;-0.62;-0.62;-0.52;-0.53;-0.52;-0.52;-0.52;2.13	5.36	5.36	0.76844	.	0.061411	0.64402	D	0.000005	D	0.86863	0.6035	L	0.48642	1.525	0.80722	D	1	D;D;D;D;D;D;D	0.76494	0.998;0.999;0.996;0.997;0.993;0.999;0.998	D;D;D;D;D;D;D	0.81914	0.985;0.99;0.986;0.978;0.967;0.995;0.985	D	0.85545	0.1218	9	.	.	.	-8.9502	19.0854	0.93201	0.0:1.0:0.0:0.0	.	237;253;25;248;260;248;253	B4DDE7;B4DS31;B4DMB0;B2RA86;E9PC62;O95319-3;O95319	.;.;.;.;.;.;CELF2_HUMAN	I	253;253;260;260;229;229;229;229;229;229;142;59	ENSP00000368563:L253I;ENSP00000406451:L253I;ENSP00000389951:L260I;ENSP00000443926:L260I;ENSP00000382743:L229I;ENSP00000404834:L229I;ENSP00000315328:L229I;ENSP00000346426:L229I;ENSP00000388530:L229I;ENSP00000438884:L142I	.	L	+	1	0	CELF2	11357026	1.000000	0.71417	1.000000	0.80357	0.779000	0.44077	5.373000	0.66162	2.500000	0.84329	0.561000	0.74099	CTC		0.527	CELF2-201	KNOWN	basic|CCDS	protein_coding	protein_coding			Missense_Mutation	26	129	1	0	1.5548e-18	1	1.9435e-18	26	129					A	11317020	C	A	11317020	5	1	228	1	0	0	0	0	0	0	1	0	3216	811	28	5	865	5	CELF2	10	11317020	Splice_Site	SNP	C	TCGA-HC-8216-01A-11D-A29Q-08		11317020	124217727	81	10555											
SGMS1	259230	broad.mit.edu	37	chr10	52103736	52103736	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ggagactcggcacaagggggGttttttgaaatcctcttggg	8	11	15	7	1	1	2	0	1	1	1	3	3	2	2	1	6	0	2	1	6	2	4			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr10:52103736G>A	ENST00000361781.2	-	7	1098	c.139C>T	c.(139-141)Ccc>Tcc	p.P47S	SGMS1_ENST00000492601.2_5'Flank|SGMS1_ENST00000429490.1_Intron|SGMS1_ENST00000361543.2_Missense_Mutation_p.P47S	NM_147156.3	NP_671512.1	Q86VZ5	SMS1_HUMAN	sphingomyelin synthase 1	53	SAM. {ECO:0000255|PROSITE- ProRule:PRU00184, ECO:0000305}.				apoptotic process (GO:0006915)|cell growth (GO:0016049)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|sphingomyelin biosynthetic process (GO:0006686)	endoplasmic reticulum (GO:0005783)|Golgi membrane (GO:0000139)|Golgi trans cisterna (GO:0000138)|integral component of Golgi membrane (GO:0030173)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ceramide cholinephosphotransferase activity (GO:0047493)|kinase activity (GO:0016301)|sphingomyelin synthase activity (GO:0033188)	p.P47T(1)		endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	16						CACAAGGGGGGTTTTTTGAAA	0.512																																						ENST00000361781.2																			1	Substitution - Missense(1)	p.P47T(1)	endometrium(1)	endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	16						c.(139-141)Ccc>Tcc		sphingomyelin synthase 1							62	65	64					10																	52103736		2203	4300	6503	SO:0001583	missense	259230				apoptosis|cell growth|sphingomyelin biosynthetic process	endoplasmic reticulum|Golgi trans cisterna|integral to Golgi membrane|nucleus|plasma membrane	ceramide cholinephosphotransferase activity|kinase activity|sphingomyelin synthase activity	g.chr10:52103736G>A	AY280959	CCDS7240.1	10q11.2	2013-01-10	2007-03-16	2007-03-16	ENSG00000198964	ENSG00000198964	2.7.8.27	"Sterile alpha motif (SAM) domain containing"	29799	protein-coding gene	gene with protein product		611573	"transmembrane protein 23"	TMEM23		11841947, 14976195	Standard	NM_147156		Approved	MOB, MGC17342, SMS1	uc001jje.3	Q86VZ5	OTTHUMG00000018231	ENST00000361781.2:c.139C>T	10.37:g.52103736G>A	ENSP00000354829:p.Pro47Ser					SGMS1_ENST00000429490.1_Intron|SGMS1_ENST00000361543.2_Missense_Mutation_p.P47S	p.P47S	NM_147156.3	NP_671512.1	Q86VZ5	SMS1_HUMAN			7	1098	-			53			SAM.		Q68U43|Q6EKK0|Q75SP1	Missense_Mutation	SNP	ENST00000361781.2	37	c.139C>T	CCDS7240.1	.	.	.	.	.	.	.	.	.	.	G	10.89	1.477152	0.26511	.	.	ENSG00000198964	ENST00000361781;ENST00000361543	T;T	0.16897	2.31;2.31	5.62	1.64	0.23874	Sterile alpha motif domain (1);Sterile alpha motif/pointed domain (2);	0.324284	0.37053	N	0.002270	T	0.17662	0.0424	L	0.58428	1.81	0.27744	N	0.944379	B	0.13145	0.007	B	0.15052	0.012	T	0.14062	-1.0486	10	0.49607	T	0.09	-16.3598	11.6307	0.51173	0.0:0.3733:0.4979:0.1288	.	53	Q86VZ5	SMS1_HUMAN	S	47	ENSP00000354829:P47S;ENSP00000355235:P47S	ENSP00000355235:P47S	P	-	1	0	SGMS1	51773742	1.000000	0.71417	0.261000	0.24466	0.967000	0.64934	1.939000	0.40213	0.044000	0.15775	-0.156000	0.13503	CCC		0.512	SGMS1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048074.2	NM_147156		7	72	0	0	0	1	0	7	72					A	52103736	G	A	52103736	3	1	228	1	0	0	0	0	1	0	0	0	14214	1261	44	3	1122	3	SGMS1	10	52103736	Missense_Mutation	SNP	G	TCGA-HC-8216-01A-11D-A29Q-08	40786716	52103736	83431011	82	10556											
KIAA1274	27143	broad.mit.edu	37	chr10	72298723	72298723	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tggccaacttccggcgggtgCcccgcatgcccatctacggc	5	7	12	17	4	1	0	0	0	1	0	2	0	2	0	5	4	4	1	5	4	2	2			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr10:72298723C>T	ENST00000263563.6	+	13	1796	c.1528C>T	c.(1528-1530)Ccc>Tcc	p.P510S		NM_014431.2	NP_055246.2	Q9ULE6	PALD_HUMAN	phosphatase domain containing, paladin 1	510						cytosol (GO:0005829)											CCGGCGGGTGCCCCGCATGCC	0.692																																						ENST00000263563.6																			0											c.(1528-1530)Ccc>Tcc		phosphatase domain containing, paladin 1							52	57	55					10																	72298723		2203	4300	6503	SO:0001583	missense	27143							g.chr10:72298723C>T	AB033100	CCDS31215.1	10q22.2	2012-07-17	2012-07-17	2012-07-17	ENSG00000107719	ENSG00000107719			23530	protein-coding gene	gene with protein product		614656	"paladin", "KIAA1274"	PALD, KIAA1274			Standard	NM_014431		Approved		uc001jrd.4	Q9ULE6	OTTHUMG00000018411	ENST00000263563.6:c.1528C>T	10.37:g.72298723C>T	ENSP00000263563:p.Pro510Ser						p.P510S	NM_014431.2	NP_055246.2					13	1796	+								B2RMS1|B9EGC6|Q5JTK7|Q5JTK8	Missense_Mutation	SNP	ENST00000263563.6	37	c.1528C>T	CCDS31215.1	.	.	.	.	.	.	.	.	.	.	c	13.71	2.317142	0.40996	.	.	ENSG00000107719	ENST00000263563;ENST00000373214	T	0.32515	1.45	5.01	3.01	0.34805	.	0.051604	0.85682	N	0.000000	T	0.30885	0.0779	M	0.65320	2	0.50813	D	0.999898	B	0.25235	0.121	B	0.25140	0.058	T	0.16808	-1.0390	10	0.48119	T	0.1	-19.1781	11.6538	0.51306	0.0:0.786:0.1359:0.0781	.	510	Q9ULE6	PALD_HUMAN	S	510	ENSP00000263563:P510S	ENSP00000263563:P510S	P	+	1	0	KIAA1274	71968729	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.221000	0.58574	1.105000	0.41606	0.542000	0.68232	CCC		0.692	PALD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048515.2	NM_014431		5	134	0	0	0	1	0	5	134					T	72298723	C	T	72298723	3	4	228	1	0	0	0	0	1	0	0	0	8220	739	26	3	1574	3	KIAA1274	10	72298723	Missense_Mutation	SNP	C	TCGA-HC-8216-01A-11D-A29Q-08	20194987	72298723	63236024	83	10557											
ADAMTS14	140766	broad.mit.edu	37	chr10	72511284	72511284	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agcagcctggcctacaagtaCgtcatccatgaggacctgct	10	8	10	13	1	1	1	1	1	0	0	2	2	2	2	4	2	5	3	4	2	3	2			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr10:72511284C>T	ENST00000373207.1	+	17	2478	c.2478C>T	c.(2476-2478)taC>taT	p.Y826Y	ADAMTS14_ENST00000373208.1_Silent_p.Y829Y	NM_080722.3	NP_542453.2	Q8WXS8	ATS14_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 14	826	Spacer.				collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(15)|ovary(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						CCTACAAGTACGTCATCCATG	0.627																																						ENST00000373208.1																			0				NS(1)|autonomic_ganglia(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(15)|ovary(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						c.(2485-2487)taC>taT		ADAM metallopeptidase with thrombospondin type 1 motif, 14							64	64	64					10																	72511284		2203	4300	6503	SO:0001819	synonymous_variant	140766				collagen catabolic process|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr10:72511284C>T	AF358666	CCDS7306.1, CCDS7307.1	10q21	2008-08-01	2005-08-19		ENSG00000138316	ENSG00000138316		"ADAM metallopeptidases with thrombospondin type 1 motif"	14899	protein-coding gene	gene with protein product		607506	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 14"			11779638	Standard	NM_139155		Approved		uc001jrg.3	Q8WXS8	OTTHUMG00000018414	ENST00000373207.1:c.2478C>T	10.37:g.72511284C>T						ADAMTS14_ENST00000373207.1_Silent_p.Y826Y	p.Y829Y	NM_139155.2	NP_631894.2	Q8WXS8	ATS14_HUMAN			17	2487	+			826			Spacer.		Q5T4G0|Q5T4G1|Q8TE55|Q8TEY8	Silent	SNP	ENST00000373207.1	37	c.2487C>T	CCDS7306.1																																																																																				0.627	ADAMTS14-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000048522.1	NM_080722		5	124	0	0	0	1	0	5	124					T	72511284	C	T	72511284	2	4	228	1	0	0	0	0	0	0	0	1	259	547	19	1		1	ADAMTS14	10	72511284	Silent	SNP	C	TCGA-HC-8216-01A-11D-A29Q-08	212561	72511284	63023463	84	10558											
TTC18	118491	broad.mit.edu	37	chr10	75029381	75029381	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	taaacactcactttcaggcaGaccagagccagatatgccca	14	7	7	13	0	2	3	2	0	0	3	2	3	2	3	3	1	3	1	3	1	3	3			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr10:75029381G>A	ENST00000310715.3	-	26	3348	c.3228C>T	c.(3226-3228)gtC>gtT	p.V1076V	DNAJC9-AS1_ENST00000440197.2_RNA|TTC18_ENST00000394865.1_Silent_p.V1046V|TTC18_ENST00000340329.3_Silent_p.V316V|TTC18_ENST00000493787.1_Intron|TTC18_ENST00000355577.3_Silent_p.V545V|TTC18_ENST00000401621.2_Silent_p.V1076V	NM_145170.3	NP_660153.3	Q5T0N1	TTC18_HUMAN		1076						extracellular vesicular exosome (GO:0070062)				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	Prostate(51;0.0119)					CTTTCAGGCAGACCAGAGCCA	0.483																																						ENST00000401621.2																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						c.(3226-3228)gtC>gtT		tetratricopeptide repeat domain 18							171	139	150					10																	75029381		2203	4300	6503	SO:0001819	synonymous_variant	118491						binding	g.chr10:75029381G>A																												ENST00000310715.3:c.3228C>T	10.37:g.75029381G>A						TTC18_ENST00000493787.1_Intron|DNAJC9-AS1_ENST00000440197.2_RNA|TTC18_ENST00000355577.3_Silent_p.V545V|TTC18_ENST00000340329.3_Silent_p.V316V|TTC18_ENST00000310715.3_Silent_p.V1076V|TTC18_ENST00000394865.1_Silent_p.V1046V	p.V1076V			Q5T0N1	TTC18_HUMAN			26	3348	-	Prostate(51;0.0119)		1076					C9JIZ9|Q5T0M4|Q5T0M9|Q5T0N0|Q69YH9|Q8IYZ8|Q8N7D5|Q8NI30|Q8NI31	Silent	SNP	ENST00000310715.3	37	c.3228C>T	CCDS7324.3																																																																																				0.483	TTC18-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding				7	66	0	0	0	1	0	7	66					A	75029381	G	A	75029381	2	1	228	1	0	0	0	0	0	0	0	1	16682	929	33	3		3	TTC18	10	75029381	Silent	SNP	G	TCGA-HC-8216-01A-11D-A29Q-08	2518097	75029381	60505366	85	10559											
C10orf76	79591	broad.mit.edu	37	chr10	103649193	103649193	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctctgacagttgggatatGtgattcacagcagcgtagga	10	11	12	8	1	2	2	1	2	1	0	3	4	3	4	1	2	2	3	1	2	2	4			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr10:103649193G>A	ENST00000370033.4	-	24	1955	c.1836C>T	c.(1834-1836)caC>caT	p.H612H	C10orf76_ENST00000495001.1_5'UTR	NM_024541.2	NP_078817.2	Q5T2E6	CJ076_HUMAN	chromosome 10 open reading frame 76	612						integral component of membrane (GO:0016021)				autonomic_ganglia(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(7)|prostate(2)|upper_aerodigestive_tract(2)	24		Colorectal(252;0.123)		Epithelial(162;2.41e-08)|all cancers(201;6.41e-07)		GTTGGGATATGTGATTCACAG	0.473																																						ENST00000370033.4																			0				autonomic_ganglia(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(7)|prostate(2)|upper_aerodigestive_tract(2)	24						c.(1834-1836)caC>caT		chromosome 10 open reading frame 76							319	320	320					10																	103649193		1978	4162	6140	SO:0001819	synonymous_variant	79591					integral to membrane		g.chr10:103649193G>A	AK023176	CCDS41563.1	10q24.32	2008-10-21			ENSG00000120029	ENSG00000120029			25788	protein-coding gene	gene with protein product						14702039	Standard	NM_024541		Approved	FLJ13114	uc009xwy.1	Q5T2E6	OTTHUMG00000018943	ENST00000370033.4:c.1836C>T	10.37:g.103649193G>A						C10orf76_ENST00000495001.1_5'UTR	p.H612H	NM_024541.2	NP_078817.2	Q5T2E6	CJ076_HUMAN		Epithelial(162;2.41e-08)|all cancers(201;6.41e-07)	24	1955	-		Colorectal(252;0.123)	612					Q2TB87|Q9H8Z9	Silent	SNP	ENST00000370033.4	37	c.1836C>T	CCDS41563.1																																																																																				0.473	C10orf76-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050007.1	NM_024541		5	325	0	0	0	1	0	5	325					A	103649193	G	A	103649193	2	1	228	1	0	0	0	0	0	0	0	1	1616	1368	48	3		3	C10orf76	10	103649193	Silent	SNP	G	TCGA-HC-8216-01A-11D-A29Q-08	28619812	103649193	31885554	86	10560											
SOX6	55553	broad.mit.edu	37	chr11	16071443	16071443	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tttacaggctctgctgtcttGggtcgggatgagagattcag	7	13	14	7	1	3	2	1	1	2	1	4	4	3	3	0	3	2	2	0	3	1	4			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr11:16071443G>T	ENST00000352083.6	-	11	1370	c.1293C>A	c.(1291-1293)ccC>ccA	p.P431P	SOX6_ENST00000528252.1_Silent_p.P390P|SOX6_ENST00000316399.6_Silent_p.P431P|SOX6_ENST00000396356.3_Silent_p.P431P|SOX6_ENST00000528429.1_Silent_p.P431P|SOX6_ENST00000527619.1_Silent_p.P393P			P35712	SOX6_HUMAN	SRY (sex determining region Y)-box 6	431					astrocyte differentiation (GO:0048708)|cardiac muscle cell differentiation (GO:0055007)|cartilage development (GO:0051216)|cell morphogenesis (GO:0000902)|cellular response to transforming growth factor beta stimulus (GO:0071560)|erythrocyte development (GO:0048821)|gene silencing (GO:0016458)|in utero embryonic development (GO:0001701)|muscle organ development (GO:0007517)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|oligodendrocyte cell fate specification (GO:0021778)|positive regulation of cartilage development (GO:0061036)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of mesenchymal stem cell differentiation (GO:2000741)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic development (GO:0009791)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|pancreas(1)|prostate(2)	43						CTGCTGTCTTGGGTCGGGATG	0.463																																						ENST00000352083.6																			0				NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|pancreas(1)|prostate(2)	43						c.(1291-1293)ccC>ccA		SRY (sex determining region Y)-box 6							211	220	217					11																	16071443		2200	4294	6494	SO:0001819	synonymous_variant	55553				muscle organ development	nucleus	sequence-specific DNA binding transcription factor activity	g.chr11:16071443G>T	AF309034	CCDS7821.1, CCDS53604.1, CCDS53605.1	11p15.3	2008-02-05						"SRY (sex determining region Y)-boxes"	16421	protein-coding gene	gene with protein product		607257				11255018	Standard	NM_033326		Approved		uc001mme.3	P35712		ENST00000352083.6:c.1293C>A	11.37:g.16071443G>T						SOX6_ENST00000396356.3_Silent_p.P431P|SOX6_ENST00000528252.1_Silent_p.P390P|SOX6_ENST00000527619.1_Silent_p.P393P|SOX6_ENST00000316399.6_Silent_p.P431P|SOX6_ENST00000528429.1_Silent_p.P431P	p.P431P			P35712	SOX6_HUMAN			11	1370	-			431					Q86VX7|Q9BXQ3|Q9BXQ4|Q9BXQ5|Q9H0I8	Silent	SNP	ENST00000352083.6	37	c.1293C>A																																																																																					0.463	SOX6-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000386811.1	NM_033326		13	255	1	0	9.31168e-06	1	1.08636e-05	13	255					T	16071443	G	T	16071443	2	4	228	1	0	0	0	0	0	0	0	1	14955	1335	47	5		5	SOX6	11	16071443	Silent	SNP	G	TCGA-HC-8216-01A-11D-A29Q-08		16071443	118935073	87	10561											
NAV2	89797	broad.mit.edu	37	chr11	20099637	20099637	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggagtaattaacacacctgaGctcaactgcaaaggtaaagt	16	8	9	8	0	1	1	1	1	0	0	1	2	1	2	1	2	4	4	1	2	6	3			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr11:20099637G>T	ENST00000396087.3	+	26	5433	c.5334G>T	c.(5332-5334)gaG>gaT	p.E1778D	NAV2_ENST00000540292.1_Missense_Mutation_p.E1709D|NAV2_ENST00000311043.8_Missense_Mutation_p.E786D|NAV2_ENST00000349880.4_Missense_Mutation_p.E1722D|NAV2_ENST00000360655.4_Missense_Mutation_p.E1658D|NAV2_ENST00000533917.1_Missense_Mutation_p.E786D|NAV2_ENST00000396085.1_Missense_Mutation_p.E1722D|NAV2_ENST00000527559.2_Missense_Mutation_p.E1707D	NM_001244963.1	NP_001231892.1	Q8IVL1	NAV2_HUMAN	neuron navigator 2	1778					glossopharyngeal nerve development (GO:0021563)|locomotory behavior (GO:0007626)|optic nerve development (GO:0021554)|regulation of systemic arterial blood pressure by baroreceptor feedback (GO:0003025)|sensory perception of smell (GO:0007608)|sensory perception of sound (GO:0007605)|vagus nerve development (GO:0021564)	interstitial matrix (GO:0005614)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|heparin binding (GO:0008201)			NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						ACACACCTGAGCTCAACTGCA	0.473																																						ENST00000396085.1																			0				NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						c.(5164-5166)gaG>gaT		neuron navigator 2							51	45	47					11																	20099637		2203	4300	6503	SO:0001583	missense	89797					nucleus	ATP binding|helicase activity	g.chr11:20099637G>T	AB037840	CCDS7850.1, CCDS7851.2, CCDS44552.1, CCDS53612.1, CCDS58126.1	11p15.1	2008-07-18			ENSG00000166833	ENSG00000166833	3.6.1.1		15997	protein-coding gene	gene with protein product	"pore membrane and/or filament interacting like protein 2", "retinoic acid inducible gene in neuroblastoma 1", "helicase, APC down-regulated 1"	607026				12079279, 12062803	Standard	NM_145117		Approved	FLJ10633, FLJ11030, HELAD1, KIAA1419, POMFIL2, RAINB1, FLJ23707	uc010rdm.2	Q8IVL1	OTTHUMG00000151837	ENST00000396087.3:c.5334G>T	11.37:g.20099637G>T	ENSP00000379396:p.Glu1778Asp					NAV2_ENST00000396087.3_Missense_Mutation_p.E1778D|NAV2_ENST00000360655.4_Missense_Mutation_p.E1658D|NAV2_ENST00000349880.4_Missense_Mutation_p.E1722D|NAV2_ENST00000527559.2_Missense_Mutation_p.E1707D|NAV2_ENST00000311043.8_Missense_Mutation_p.E786D|NAV2_ENST00000533917.1_Missense_Mutation_p.E786D|NAV2_ENST00000540292.1_Missense_Mutation_p.E1709D	p.E1722D	NM_182964.5	NP_892009.3	Q8IVL1	NAV2_HUMAN			24	5527	+			1778					A6NEC1|Q8IVK3|Q8IVK4|Q8IVK5|Q8IVK6|Q8IVK7|Q8IVK8|Q8NHC9|Q8NHD0|Q8TDE9|Q8TDF0|Q8TEB3|Q96B30|Q9NUZ6|Q9NVM7|Q9P2C8	Missense_Mutation	SNP	ENST00000396087.3	37	c.5166G>T	CCDS58126.1	.	.	.	.	.	.	.	.	.	.	G	12.14	1.849017	0.32699	.	.	ENSG00000166833	ENST00000360655;ENST00000396085;ENST00000349880;ENST00000396087;ENST00000527559;ENST00000540292;ENST00000533917;ENST00000525322;ENST00000311043;ENST00000536595	D;D;D;D;D;D;D;D;D	0.94138	-3.36;-3.36;-3.36;-3.36;-3.36;-3.36;-3.36;-3.36;-3.36	6.17	5.26	0.73747	.	0.000000	0.64402	D	0.000002	D	0.91912	0.7439	N	0.10760	0.04	0.80722	D	1	B;D;D;D;B;P	0.69078	0.022;0.997;0.99;0.997;0.013;0.875	B;P;P;D;B;P	0.77557	0.037;0.868;0.789;0.99;0.025;0.716	D	0.91528	0.5240	9	.	.	.	.	15.327	0.74172	0.0663:0.0:0.9337:0.0	.	1722;1778;786;771;1722;1658	A7E2D6;Q8IVL1;Q8IVL1-5;E9PNV5;Q8IVL1-3;Q8IVL1-4	.;NAV2_HUMAN;.;.;.;.	D	1658;1722;1722;1778;1707;1709;786;771;786;771	ENSP00000353871:E1658D;ENSP00000379394:E1722D;ENSP00000309577:E1722D;ENSP00000379396:E1778D;ENSP00000435395:E1707D;ENSP00000443489:E1709D;ENSP00000437316:E786D;ENSP00000437136:E771D;ENSP00000312169:E786D	.	E	+	3	2	NAV2	20056213	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.027000	0.41078	1.620000	0.50308	0.655000	0.94253	GAG		0.473	NAV2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324112.1	NM_145117		3	35	1	0	6.4e-05	1	7.17949e-05	3	35					T	20099637	G	T	20099637	3	4	228	1	0	0	0	0	1	0	0	0	10184	962	34	5	5369	5	NAV2	11	20099637	Missense_Mutation	SNP	G	TCGA-HC-8216-01A-11D-A29Q-08	4028194	20099637	114906879	88	10562											
SLC6A5	9152	broad.mit.edu	37	chr11	20622994	20622994	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aggcgcgcaggcctcgccccCtcccgggagctccgggcccg	3	3	15	20	6	0	0	0	0	0	0	3	1	2	1	6	4	1	2	6	4	0	0			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr11:20622994C>G	ENST00000525748.1	+	2	596	c.323C>G	c.(322-324)cCt>cGt	p.P108R		NM_004211.3	NP_004202.2	Q9Y345	SC6A5_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 5	108					glycine import (GO:0036233)|synaptic transmission (GO:0007268)|synaptic transmission, glycinergic (GO:0060012)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	glycine:sodium symporter activity (GO:0015375)|neurotransmitter:sodium symporter activity (GO:0005328)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(34)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	63					Glycine(DB00145)	GCCTCGCCCCCTCCCGGGAGC	0.697																																						ENST00000525748.1																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(34)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	63						c.(322-324)cCt>cGt		solute carrier family 6 (neurotransmitter transporter), member 5	Glycine(DB00145)						20	24	23					11																	20622994		2201	4290	6491	SO:0001583	missense	9152				synaptic transmission	integral to membrane|plasma membrane	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity	g.chr11:20622994C>G	AF085412	CCDS7854.1	11p15.1	2013-07-19	2013-07-19		ENSG00000165970	ENSG00000165970		"Solute carriers"	11051	protein-coding gene	gene with protein product	"glycine transporter 2"	604159	"solute carrier family 6 (neurotransmitter transporter, glycine), member 5"	NET1		9845349	Standard	NM_004211		Approved	GLYT2	uc001mqd.3	Q9Y345	OTTHUMG00000166024	ENST00000525748.1:c.323C>G	11.37:g.20622994C>G	ENSP00000434364:p.Pro108Arg						p.P108R	NM_004211.3	NP_004202.2	Q9Y345	SC6A5_HUMAN			2	596	+			108					O95288|Q4VAM7|Q9BX77	Missense_Mutation	SNP	ENST00000525748.1	37	c.323C>G	CCDS7854.1	.	.	.	.	.	.	.	.	.	.	C	1.916	-0.449446	0.04572	.	.	ENSG00000165970	ENST00000525748	T	0.71103	-0.54	5.6	-0.729	0.11158	.	2.324770	0.01789	N	0.032195	T	0.54549	0.1865	N	0.19112	0.55	0.09310	N	1	B	0.17465	0.022	B	0.09377	0.004	T	0.38908	-0.9639	10	0.52906	T	0.07	.	4.0942	0.09983	0.2449:0.4238:0.0:0.3313	.	108	Q9Y345	SC6A5_HUMAN	R	108	ENSP00000434364:P108R	ENSP00000298923:P108R	P	+	2	0	SLC6A5	20579570	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.242000	0.08928	-0.412000	0.07519	-2.323000	0.00251	CCT		0.697	SLC6A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387497.2	NM_004211		3	23	0	0	0	1	0	3	23					G	20622994	C	G	20622994	3	3	228	1	0	0	0	0	1	0	0	0	14687	681	24	5	329	5	SLC6A5	11	20622994	Missense_Mutation	SNP	C	TCGA-HC-8216-01A-11D-A29Q-08	523357	20622994	114383522	89	10563											
HIPK3	10114	broad.mit.edu	37	chr11	33370281	33370281	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caaaccatcattattgccgaCtccccgagtcctgcagtgag	10	9	8	14	2	1	1	1	1	0	0	3	3	3	1	5	0	3	1	5	0	2	2			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr11:33370281C>A	ENST00000303296.4	+	13	2888	c.2583C>A	c.(2581-2583)gaC>gaA	p.D861E	HIPK3_ENST00000525975.1_Missense_Mutation_p.D840E|HIPK3_ENST00000456517.1_Missense_Mutation_p.D840E|HIPK3_ENST00000379016.3_Missense_Mutation_p.D840E	NM_005734.3	NP_005725.3	Q9H422	HIPK3_HUMAN	homeodomain interacting protein kinase 3	861	Interaction with AR. {ECO:0000250}.|Interaction with FAS. {ECO:0000250}.|Required for localization to nuclear speckles. {ECO:0000250}.				apoptotic process (GO:0006915)|mRNA transcription (GO:0009299)|negative regulation of apoptotic process (GO:0043066)|negative regulation of JUN kinase activity (GO:0043508)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|PML body (GO:0016605)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			endometrium(3)|kidney(3)|large_intestine(9)|liver(4)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	39						TTATTGCCGACTCCCCGAGTC	0.473																																						ENST00000303296.4																			0				endometrium(3)|kidney(3)|large_intestine(9)|liver(4)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	39						c.(2581-2583)gaC>gaA		homeodomain interacting protein kinase 3							93	86	89					11																	33370281		2202	4298	6500	SO:0001583	missense	10114				anti-apoptosis|apoptosis|negative regulation of JUN kinase activity|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm	ATP binding|protein serine/threonine kinase activity	g.chr11:33370281C>A	AF004849	CCDS7884.1, CCDS41634.1	11p13	2008-07-18	2001-11-29		ENSG00000110422	ENSG00000110422			4915	protein-coding gene	gene with protein product		604424	"homeodomain-interacting protein kinase 3"			9373137, 9748262	Standard	NM_005734		Approved	PKY, DYRK6, YAK1, FIST3	uc031pzm.1	Q9H422	OTTHUMG00000132269	ENST00000303296.4:c.2583C>A	11.37:g.33370281C>A	ENSP00000304226:p.Asp861Glu					HIPK3_ENST00000379016.3_Missense_Mutation_p.D840E|HIPK3_ENST00000525975.1_Missense_Mutation_p.D840E|HIPK3_ENST00000456517.1_Missense_Mutation_p.D840E	p.D861E	NM_005734.3	NP_005725.3	Q9H422	HIPK3_HUMAN			13	2888	+			861			Interaction with AR (By similarity).|Interaction with FAS (By similarity).|Required for localization to nuclear speckles (By similarity).		O14632|Q2PBG4|Q2PBG5|Q92632|Q9HAS2	Missense_Mutation	SNP	ENST00000303296.4	37	c.2583C>A	CCDS7884.1	.	.	.	.	.	.	.	.	.	.	C	12.55	1.973068	0.34848	.	.	ENSG00000110422	ENST00000525975;ENST00000303296;ENST00000379016;ENST00000456517	T;T;T;T	0.69306	-0.39;-0.18;-0.39;-0.39	5.71	1.25	0.21368	.	0.086980	0.49305	D	0.000157	T	0.62804	0.2458	L	0.56340	1.77	0.42745	D	0.993758	P;B	0.39480	0.675;0.365	B;B	0.43658	0.426;0.126	T	0.62001	-0.6946	10	0.56958	D	0.05	.	9.6735	0.40026	0.0:0.4916:0.0:0.5084	.	840;861	Q9H422-2;Q9H422	.;HIPK3_HUMAN	E	840;861;840;840	ENSP00000431710:D840E;ENSP00000304226:D861E;ENSP00000368301:D840E;ENSP00000398241:D840E	ENSP00000304226:D861E	D	+	3	2	HIPK3	33326857	0.858000	0.29795	0.994000	0.49952	0.785000	0.44390	-0.043000	0.12043	0.293000	0.22520	0.650000	0.86243	GAC		0.473	HIPK3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000255358.1	NM_005734		7	98	1	0	0.00307968	1	0.0033064	7	98					A	33370281	C	A	33370281	3	1	228	1	0	0	0	0	1	0	0	0	7118	564	20	5	2629	5	HIPK3	11	33370281	Missense_Mutation	SNP	C	TCGA-HC-8216-01A-11D-A29Q-08	12747287	33370281	101636235	90	10564											
OR10Q1	219960	broad.mit.edu	37	chr11	57995624	57995624	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gaaggagcaggtggagaaggCccggcggcggccctcggcag	8	2	20	11	4	0	1	0	0	0	1	1	4	0	2	2	8	1	2	2	8	2	0			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr11:57995624C>A	ENST00000316770.2	-	1	766	c.724G>T	c.(724-726)Gcc>Tcc	p.A242S		NM_001004471.2	NP_001004471.1	Q8NGQ4	O10Q1_HUMAN	olfactory receptor, family 10, subfamily Q, member 1	242						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)	35		Breast(21;0.0589)				GTGGAGAAGGCCCGGCGGCGG	0.627																																						ENST00000316770.2																			0				autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)	35						c.(724-726)Gcc>Tcc		olfactory receptor, family 10, subfamily Q, member 1							62	57	59					11																	57995624		2201	4295	6496	SO:0001583	missense	219960				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:57995624C>A	AB065735	CCDS31547.1	11q12.1	2012-08-09			ENSG00000180475	ENSG00000180475		"GPCR / Class A : Olfactory receptors"	15134	protein-coding gene	gene with protein product							Standard	NM_001004471		Approved		uc010rkd.2	Q8NGQ4	OTTHUMG00000167542	ENST00000316770.2:c.724G>T	11.37:g.57995624C>A	ENSP00000314324:p.Ala242Ser						p.A242S	NM_001004471.2	NP_001004471.1	Q8NGQ4	O10Q1_HUMAN			1	766	-		Breast(21;0.0589)	242					Q6IFG4	Missense_Mutation	SNP	ENST00000316770.2	37	c.724G>T	CCDS31547.1	.	.	.	.	.	.	.	.	.	.	C	22.2	4.253870	0.80135	.	.	ENSG00000180475	ENST00000316770	T	0.00359	7.87	4.7	4.7	0.59300	GPCR, rhodopsin-like superfamily (1);	0.000000	0.42420	D	0.000716	T	0.01222	0.0040	M	0.92317	3.295	0.31659	N	0.645829	D	0.89917	1.0	D	0.91635	0.999	T	0.04811	-1.0925	10	0.87932	D	0	.	16.4375	0.83882	0.0:1.0:0.0:0.0	.	242	Q8NGQ4	O10Q1_HUMAN	S	242	ENSP00000314324:A242S	ENSP00000314324:A242S	A	-	1	0	OR10Q1	57752200	0.997000	0.39634	0.975000	0.42487	0.886000	0.51366	3.698000	0.54771	2.460000	0.83146	0.479000	0.44913	GCC		0.627	OR10Q1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394706.1	NM_001004471		7	92	1	0	0.0381472	1	0.0388126	7	92					A	57995624	C	A	57995624	3	1	228	1	0	0	0	0	1	0	0	0	10916	739	26	5	239	5	OR10Q1	11	57995624	Missense_Mutation	SNP	C	TCGA-HC-8216-01A-11D-A29Q-08	24625343	57995624	77010892	91	10565											
AHNAK	79026	broad.mit.edu	37	chr11	62290041	62290041	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	caggttcacatccacttctgGaccttctcctttgaagccag	8	12	7	14	0	3	1	1	1	2	0	5	2	4	2	4	2	1	1	4	2	1	4			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr11:62290041G>A	ENST00000378024.4	-	5	12122	c.11848C>T	c.(11848-11850)Cca>Tca	p.P3950S	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	3950					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				TCCACTTCTGGACCTTCTCCT	0.507																																						ENST00000378024.4																			0				NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268						c.(11848-11850)Cca>Tca		AHNAK nucleoprotein							240	250	247					11																	62290041		2202	4299	6501	SO:0001583	missense	79026				nervous system development	nucleus	protein binding	g.chr11:62290041G>A	M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"desmoyokin"	103390	"AHNAK nucleoprotein (desmoyokin)"			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.11848C>T	11.37:g.62290041G>A	ENSP00000367263:p.Pro3950Ser					AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	p.P3950S	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN			5	12122	-		Melanoma(852;0.155)	3950					A1A586	Missense_Mutation	SNP	ENST00000378024.4	37	c.11848C>T	CCDS31584.1	.	.	.	.	.	.	.	.	.	.	-	13.17	2.156385	0.38119	.	.	ENSG00000124942	ENST00000378024	T	0.05649	3.41	4.9	4.9	0.64082	.	0.000000	0.35805	U	0.002961	T	0.28764	0.0713	M	0.84082	2.675	0.42835	D	0.994035	D	0.67145	0.996	D	0.72982	0.979	T	0.09400	-1.0676	10	0.66056	D	0.02	-3.8538	17.672	0.88221	0.0:0.0:1.0:0.0	.	3950	Q09666	AHNK_HUMAN	S	3950	ENSP00000367263:P3950S	ENSP00000367263:P3950S	P	-	1	0	AHNAK	62046617	1.000000	0.71417	0.968000	0.41197	0.136000	0.21042	4.904000	0.63279	2.253000	0.74438	0.498000	0.49722	CCA		0.507	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060		21	390	0	0	0	1	0	21	390					A	62290041	G	A	62290041	3	1	228	1	0	0	0	0	1	0	0	0	414	1174	41	3	5944	3	AHNAK	11	62290041	Missense_Mutation	SNP	G	TCGA-HC-8216-01A-11D-A29Q-08	4294417	62290041	72716475	92	10566											
KDM2A	22992	broad.mit.edu	37	chr11	66999361	66999361	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttgtagataagttggagtCtctgccactgcacaagaaat	12	11	9	9	0	1	2	0	0	1	2	2	3	1	3	2	1	2	3	2	1	4	4			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr11:66999361C>A	ENST00000529006.2	+	12	1855	c.1409C>A	c.(1408-1410)tCt>tAt	p.S470Y	KDM2A_ENST00000526258.1_3'UTR|KDM2A_ENST00000398645.2_Missense_Mutation_p.S470Y	NM_012308.2	NP_036440.1	Q9Y2K7	KDM2A_HUMAN	lysine (K)-specific demethylase 2A	470					histone H3-K36 demethylation (GO:0070544)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleus (GO:0005634)	histone demethylase activity (H3-K36 specific) (GO:0051864)|unmethylated CpG binding (GO:0045322)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|urinary_tract(2)	36						AAGTTGGAGTCTCTGCCACTG	0.488																																						ENST00000529006.2																			0				NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|urinary_tract(2)	36						c.(1408-1410)tCt>tAt		lysine (K)-specific demethylase 2A							164	165	164					11																	66999361		2076	4211	6287	SO:0001583	missense	22992				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding	g.chr11:66999361C>A	BC047486	CCDS44657.1, CCDS58148.1	11q13.1	2014-02-18	2009-04-06	2009-04-06	ENSG00000173120	ENSG00000173120		"F-boxes / Leucine-rich repeats", "Chromatin-modifying enzymes / K-demethylases"	13606	protein-coding gene	gene with protein product	"F-box protein FBL11", "jumonji C domain-containing histone demethylase 1A"	605657	"F-box and leucine-rich repeat protein 11"	FBXL11		10231032, 10531037	Standard	NM_012308		Approved	KIAA1004, FBL11, LILINA, DKFZP434M1735, FBL7, FLJ00115, CXXC8, JHDM1A	uc001ojw.3	Q9Y2K7	OTTHUMG00000167103	ENST00000529006.2:c.1409C>A	11.37:g.66999361C>A	ENSP00000432786:p.Ser470Tyr					KDM2A_ENST00000526258.1_3'UTR|KDM2A_ENST00000398645.2_Missense_Mutation_p.S470Y	p.S470Y	NM_012308.2	NP_036440.1	Q9Y2K7	KDM2A_HUMAN			12	1855	+			470					D4QA03|E9PIL6|I3VM55|Q49A21|Q4G0M3|Q69YY8|Q9BVH5|Q9H7H5|Q9UK66	Missense_Mutation	SNP	ENST00000529006.2	37	c.1409C>A	CCDS44657.1	.	.	.	.	.	.	.	.	.	.	C	19.82	3.898670	0.72639	.	.	ENSG00000173120	ENST00000398645;ENST00000529006	T;T	0.58940	0.3;0.3	5.82	5.82	0.92795	.	0.133263	0.51477	D	0.000092	T	0.55097	0.1899	L	0.49778	1.585	0.80722	D	1	P	0.49447	0.924	B	0.40782	0.34	T	0.61955	-0.6956	10	0.87932	D	0	-10.6152	17.2491	0.87037	0.0:1.0:0.0:0.0	.	470	Q9Y2K7	KDM2A_HUMAN	Y	470	ENSP00000381640:S470Y;ENSP00000432786:S470Y	ENSP00000381640:S470Y	S	+	2	0	KDM2A	66755937	0.987000	0.35691	1.000000	0.80357	0.997000	0.91878	2.751000	0.47508	2.761000	0.94854	0.643000	0.83706	TCT		0.488	KDM2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393140.2	NM_012308		28	182	1	0	1.17739e-12	1	1.4613e-12	28	182					A	66999361	C	A	66999361	3	1	228	1	0	0	0	0	1	0	0	0	8124	913	32	5	1451	5	KDM2A	11	66999361	Missense_Mutation	SNP	C	TCGA-HC-8216-01A-11D-A29Q-08	4709320	66999361	68007155	93	10567											
ODZ4	26011	broad.mit.edu	37	chr11	78443391	78443391	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcacaatggggcctttctcTgcacaggagctggcgaagga	9	7	15	10	1	1	0	0	0	1	0	2	3	1	2	1	6	2	3	1	6	2	1			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr11:78443391T>C	ENST00000278550.7	-	21	3570	c.3108A>G	c.(3106-3108)gcA>gcG	p.A1036A		NM_001098816.2	NP_001092286.2	Q6N022	TEN4_HUMAN	teneurin transmembrane protein 4	1036					cardiac cell fate specification (GO:0060912)|cardiac muscle cell proliferation (GO:0060038)|central nervous system myelin formation (GO:0032289)|gastrulation with mouth forming second (GO:0001702)|neuron development (GO:0048666)|positive regulation of gastrulation (GO:2000543)|positive regulation of myelination (GO:0031643)|positive regulation of oligodendrocyte differentiation (GO:0048714)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|nucleus (GO:0005634)	protein homodimerization activity (GO:0042803)										GGCCTTTCTCTGCACAGGAGC	0.527																																						ENST00000278550.7																			0											c.(3106-3108)gcA>gcG		teneurin transmembrane protein 4							62	65	64					11																	78443391		1922	4121	6043	SO:0001819	synonymous_variant	26011							g.chr11:78443391T>C	AB037723	CCDS44688.1	11q13	2012-10-02	2012-10-02	2012-10-02		ENSG00000149256			29945	protein-coding gene	gene with protein product		610084	"odz, odd Oz/ten-m homolog 4 (Drosophila)"	ODZ4		12000766, 10625539	Standard	NM_001098816		Approved	KIAA1302, Ten-M4	uc001ozl.4	Q6N022		ENST00000278550.7:c.3108A>G	11.37:g.78443391T>C							p.A1036A	NM_001098816.2	NP_001092286.2					21	3570	-								A6ND26|Q7Z3C7|Q96MS6|Q9P2P4|Q9Y4S2	Silent	SNP	ENST00000278550.7	37	c.3108A>G	CCDS44688.1																																																																																				0.527	TENM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391406.2			22	53	0	0	0	1	0	22	53					C	78443391	T	C	78443391	2	2	228	1	0	0	0	0	0	0	0	1	10837	1567	55	4		4	ODZ4	11	78443391	Silent	SNP	T	TCGA-HC-8216-01A-11D-A29Q-08	11444030	78443391	56563125	94	10568											
TECTA	7007	broad.mit.edu	37	chr11	120996041	120996041	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagtgacttctttgcctgtcAccttagacttggggacagtg	7	14	11	9	0	2	2	1	1	1	1	2	3	2	3	2	2	1	0	2	2	2	5			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr11:120996041A>T	ENST00000392793.1	+	8	1505	c.1234A>T	c.(1234-1236)Acc>Tcc	p.T412S	TECTA_ENST00000264037.2_Missense_Mutation_p.T412S			O75443	TECTA_HUMAN	tectorin alpha	412	VWFD 1. {ECO:0000255|PROSITE- ProRule:PRU00580}.				cell-matrix adhesion (GO:0007160)|sensory perception of sound (GO:0007605)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		TTTGCCTGTCACCTTAGACTT	0.498																																						ENST00000392793.1																		TECTA/TBCEL(2)	0				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135						c.(1234-1236)Acc>Tcc		tectorin alpha							150	152	151					11																	120996041		2203	4299	6502	SO:0001583	missense	7007				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix		g.chr11:120996041A>T	AF055136	CCDS8434.1	11q22-q24	2008-02-05			ENSG00000109927	ENSG00000109927			11720	protein-coding gene	gene with protein product		602574		DFNA12, DFNA8, DFNB21		9503015, 9590290	Standard	NM_005422		Approved		uc010rzo.2	O75443	OTTHUMG00000149908	ENST00000392793.1:c.1234A>T	11.37:g.120996041A>T	ENSP00000376543:p.Thr412Ser					TECTA_ENST00000264037.2_Missense_Mutation_p.T412S	p.T412S			O75443	TECTA_HUMAN		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)	8	1505	+	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)	412			VWFD 1.			Missense_Mutation	SNP	ENST00000392793.1	37	c.1234A>T	CCDS8434.1	.	.	.	.	.	.	.	.	.	.	A	1.151	-0.646786	0.03506	.	.	ENSG00000109927	ENST00000392793;ENST00000264037	T;T	0.57907	0.37;0.37	4.58	3.45	0.39498	von Willebrand factor, type D domain (3);	0.531523	0.20885	N	0.083934	T	0.18257	0.0438	N	0.02266	-0.62	0.22629	N	0.998913	B	0.02656	0.0	B	0.01281	0.0	T	0.33574	-0.9863	10	0.02654	T	1	.	3.9985	0.09569	0.6617:0.0:0.1616:0.1767	.	412	O75443	TECTA_HUMAN	S	412	ENSP00000376543:T412S;ENSP00000264037:T412S	ENSP00000264037:T412S	T	+	1	0	TECTA	120501251	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	1.723000	0.38053	1.850000	0.53721	0.379000	0.24179	ACC		0.498	TECTA-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313850.1	NM_005422		9	221	0	0	0	1	0	9	221					T	120996041	A	T	120996041	3	4	228	1	0	0	0	0	1	0	0	0	15744	159	6	5	1260	5	TECTA	11	120996041	Missense_Mutation	SNP	A	TCGA-HC-8216-01A-11D-A29Q-08	42552650	120996041	14010475	95	10569											
PRB3	5544	broad.mit.edu	37	chr12	11421037	11421037	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttcctggaggaggtggggtaCgttggggctggtttcctcct	3	13	17	8	1	0	0	0	0	0	0	3	2	3	2	3	8	1	4	3	8	1	4			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr12:11421037C>T	ENST00000279573.7	-	3	281	c.146G>A	c.(145-147)cGt>cAt	p.R49H	PRB3_ENST00000538488.1_Missense_Mutation_p.R49H|PRB3_ENST00000440870.3_5'UTR|PRB3_ENST00000381842.3_Missense_Mutation_p.R49H			Q04118	PRB3_HUMAN	proline-rich protein BstNI subfamily 3	49	Pro-rich.			PQRTPPP -> SQGPPPR (in Ref. 1; CAA30728). {ECO:0000305}.	defense response to Gram-negative bacterium (GO:0050829)	extracellular region (GO:0005576)				breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(5)	25			OV - Ovarian serous cystadenocarcinoma(49;0.201)			AGGTGGGGTACGTTGGGGCTG	0.582																																						ENST00000381842.3																			0				breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(5)	25								proline-rich protein BstNI subfamily 3							150	151	151					12																	11421037		2194	4294	6488	SO:0001583	missense	5544					extracellular region	Gram-negative bacterial cell surface binding	g.chr12:11421037C>T			12p13.2	2012-10-02				ENSG00000197870			9339	protein-coding gene	gene with protein product		168840				1894623	Standard	NM_006249		Approved	PRG	uc001qzs.3	Q04118		ENST00000279573.7:c.146G>A	12.37:g.11421037C>T	ENSP00000279573:p.Arg49His					PRB3_ENST00000538488.1_RNA|PRB3_ENST00000440870.3_RNA|PRB3_ENST00000279573.6_RNA		NM_006249.4	NP_006240.4	Q04118	PRB3_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;0.201)		0	183	-								Q15188|Q4VAY3|Q4VAY4|Q7M4M9|Q9UCT9	RNA	SNP	ENST00000279573.7	37			.	.	.	.	.	.	.	.	.	.	.	7.102	0.574281	0.13623	.	.	ENSG00000197870	ENST00000381842;ENST00000538488	T;T	0.05199	3.48;3.48	0.714	0.714	0.18180	.	9.167660	0.01311	U	0.010612	T	0.04634	0.0126	.	.	.	0.09310	N	1	B	0.29481	0.245	B	0.04013	0.001	T	0.32613	-0.9900	9	0.45353	T	0.12	.	4.8748	0.13651	0.0:1.0:0.0:0.0	.	49	Q04118	PRB3_HUMAN	H	49	ENSP00000371264:R49H;ENSP00000442626:R49H	ENSP00000279573:R49H	R	-	2	0	PRB3	11312304	0.000000	0.05858	0.001000	0.08648	0.004000	0.04260	-0.707000	0.05041	0.688000	0.31529	0.074000	0.15403	CGT		0.582	PRB3-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000402119.5	NM_006249		53	163	0	0	0	1	0	53	163					T	11421037	C	T	11421037	3	4	228	1	0	0	0	0	1	0	0	0	12444	536	19	1	791	1	PRB3	12	11421037	Missense_Mutation	SNP	C	TCGA-HC-8216-01A-11D-A29Q-08		11421037	122430858	96	10570											
ADAMTS20	80070	broad.mit.edu	37	chr12	43793008	43793008	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgcaaaacacttcacggtacTttctacctttaccacaagaa	14	11	4	12	1	2	1	1	0	1	1	2	1	2	1	2	1	5	2	2	1	7	6			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr12:43793008T>A	ENST00000389420.3	-	29	4312	c.4313A>T	c.(4312-4314)aAg>aTg	p.K1438M		NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	1438	TSP type-1 11. {ECO:0000255|PROSITE- ProRule:PRU00210}.				extracellular matrix organization (GO:0030198)|negative regulation of apoptotic process (GO:0043066)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of signal transduction (GO:0009967)	extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		TTCACGGTACTTTCTACCTTT	0.348																																						ENST00000389420.3																			0				breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						c.(4312-4314)aAg>aTg		ADAM metallopeptidase with thrombospondin type 1 motif, 20							91	80	84					12																	43793008		2201	4299	6500	SO:0001583	missense	80070					proteinaceous extracellular matrix	zinc ion binding	g.chr12:43793008T>A	AF488804	CCDS31778.2	12q12	2005-08-19	2005-08-19			ENSG00000173157		"ADAM metallopeptidases with thrombospondin type 1 motif"	17178	protein-coding gene	gene with protein product		611681	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 20"			12514189, 12562771	Standard	NM_025003		Approved	GON-1	uc010skx.2	P59510		ENST00000389420.3:c.4313A>T	12.37:g.43793008T>A	ENSP00000374071:p.Lys1438Met						p.K1438M	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN		GBM - Glioblastoma multiforme(48;0.0473)	29	4312	-	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)	1438			TSP type-1 11.		A6NNC9|J3QT00	Missense_Mutation	SNP	ENST00000389420.3	37	c.4313A>T	CCDS31778.2	.	.	.	.	.	.	.	.	.	.	T	17.45	3.393259	0.62066	.	.	ENSG00000173157	ENST00000389420	T	0.55588	0.51	4.96	4.96	0.65561	.	0.000000	0.56097	D	0.000038	T	0.68906	0.3052	M	0.67953	2.075	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.70230	-0.4929	10	0.49607	T	0.09	.	12.843	0.57813	0.0:0.0:0.0:1.0	.	1438	P59510	ATS20_HUMAN	M	1438	ENSP00000374071:K1438M	ENSP00000374071:K1438M	K	-	2	0	ADAMTS20	42079275	1.000000	0.71417	0.998000	0.56505	0.725000	0.41563	4.940000	0.63533	2.165000	0.68154	0.528000	0.53228	AAG		0.348	ADAMTS20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403643.1	NM_025003		3	1	0	0	0	1	0	3	1					A	43793008	T	A	43793008	3	1	228	1	0	0	0	0	1	0	0	0	266	1609	56	5	1462	5	ADAMTS20	12	43793008	Missense_Mutation	SNP	T	TCGA-HC-8216-01A-11D-A29Q-08	32371971	43793008	90058887	97	10571											
MLL2	8085	broad.mit.edu	37	chr12	49433964	49433964	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgaaacgcatgggagaggggGtgcccacaaatgcacccgtc	11	5	14	11	2	0	2	0	1	0	1	1	3	0	2	2	3	3	2	2	3	2	0			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr12:49433964G>A	ENST00000301067.7	-	31	7588	c.7589C>T	c.(7588-7590)aCc>aTc	p.T2530I	KMT2D_ENST00000549743.1_5'Flank	NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	2530	Pro-rich.				chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)										GGGAGAGGGGGTGCCCACAAA	0.657																																						ENST00000301067.7																			0											c.(7588-7590)aCc>aTc		lysine (K)-specific methyltransferase 2D							21	23	23					12																	49433964		1922	4114	6036	SO:0001583	missense	8085							g.chr12:49433964G>A	AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	7133	protein-coding gene	gene with protein product		602113	"trinucleotide repeat containing 21", "myeloid/lymphoid or mixed-lineage leukemia 2"	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.7589C>T	12.37:g.49433964G>A	ENSP00000301067:p.Thr2530Ile						p.T2530I	NM_003482.3	NP_003473.3					31	7588	-								O14687	Missense_Mutation	SNP	ENST00000301067.7	37	c.7589C>T	CCDS44873.1	.	.	.	.	.	.	.	.	.	.	G	8.583	0.882783	0.17467	.	.	ENSG00000167548	ENST00000301067	T	0.79653	-1.29	5.21	2.17	0.27698	.	0.198245	0.25294	N	0.031717	T	0.64789	0.2630	N	0.19112	0.55	0.22851	N	0.99865	B	0.29805	0.257	B	0.20577	0.03	T	0.62647	-0.6810	10	0.87932	D	0	.	11.1322	0.48354	0.0:0.2494:0.623:0.1276	.	2530	O14686	MLL2_HUMAN	I	2530	ENSP00000301067:T2530I	ENSP00000301067:T2530I	T	-	2	0	MLL2	47720231	0.804000	0.28969	0.998000	0.56505	0.985000	0.73830	1.169000	0.31871	1.308000	0.44962	0.591000	0.81541	ACC		0.657	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2			4	37	0	0	0	1	0	4	37					A	49433964	G	A	49433964	3	1	228	1	0	0	0	0	1	0	0	0	9621	1261	44	3	9120	3	MLL2	12	49433964	Missense_Mutation	SNP	G	TCGA-HC-8216-01A-11D-A29Q-08	5640956	49433964	84417931	98	10572											
KRT75	9119	broad.mit.edu	37	chr12	52820636	52820636	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aaactccctctccactcaacCtgattgggaagagcagggag	12	7	10	12	0	2	2	1	1	1	1	4	4	3	4	3	2	3	1	3	2	3	1			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr12:52820636C>A	ENST00000252245.5	-	8	1603		c.e8-1		RP11-1020M18.10_ENST00000548135.1_RNA	NM_004693.2	NP_004684.2	O95678	K2C75_HUMAN	keratin 75						hematopoietic progenitor cell differentiation (GO:0002244)	extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(10)|prostate(1)|skin(1)	28				BRCA - Breast invasive adenocarcinoma(357;0.192)		TCCACTCAACCTGATTGGGAA	0.463																																						ENST00000252245.5																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(10)|prostate(1)|skin(1)	28						c.e8-1		keratin 75							136	115	122					12																	52820636		2203	4300	6503	SO:0001630	splice_region_variant	9119					keratin filament	structural molecule activity	g.chr12:52820636C>A	Y19212	CCDS8827.1	12q13.13	2013-06-25			ENSG00000170454	ENSG00000170454		"-", "Intermediate filaments type II, keratins (basic)"	24431	protein-coding gene	gene with protein product		609025				9856802, 10692104, 16831889	Standard	NM_004693		Approved	K6HF	uc001saj.2	O95678	OTTHUMG00000169592	ENST00000252245.5:c.1383-1G>T	12.37:g.52820636C>A						RP11-1020M18.10_ENST00000548135.1_RNA		NM_004693.2	NP_004684.2	O95678	K2C75_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.192)	8	1603	-								B4DQU4|Q9NSA9	Splice_Site	SNP	ENST00000252245.5	37		CCDS8827.1	.	.	.	.	.	.	.	.	.	.	C	16.76	3.212015	0.58452	.	.	ENSG00000170454	ENST00000252245	.	.	.	5.1	5.1	0.69264	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.8904	0.63736	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	KRT75	51106903	1.000000	0.71417	1.000000	0.80357	0.805000	0.45488	3.347000	0.52200	2.634000	0.89283	0.655000	0.94253	.		0.463	KRT75-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404968.1	NM_004693	Intron	7	52	1	0	0.0293803	1	0.0300676	7	52					A	52820636	C	A	52820636	5	1	228	1	0	0	0	0	0	0	1	0	8488	695	24	5	281	5	KRT75	12	52820636	Splice_Site	SNP	C	TCGA-HC-8216-01A-11D-A29Q-08	3386672	52820636	81031259	99	10573											
C12orf64	283310	broad.mit.edu	37	chr12	80749588	80749588	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gggcattgatgaatgcactcTatacaaatgtttggagaatg	13	12	11	5	0	1	3	0	2	1	1	1	4	1	3	0	2	2	3	0	2	5	4			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr12:80749588T>C	ENST00000547103.1	+	46	5609	c.5603T>C	c.(5602-5604)cTa>cCa	p.L1868P	OTOGL_ENST00000458043.2_Missense_Mutation_p.L1880P|OTOGL_ENST00000546620.1_5'Flank			Q3ZCN5	OTOGL_HUMAN	otogelin-like	1868					L-arabinose metabolic process (GO:0046373)	extracellular region (GO:0005576)	alpha-L-arabinofuranosidase activity (GO:0046556)			breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						GAATGCACTCTATACAAATGT	0.448																																						ENST00000458043.2																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						c.(5638-5640)cTa>cCa		otogelin-like							129	122	124					12																	80749588		1906	4119	6025	SO:0001583	missense	283310							g.chr12:80749588T>C	AK096852		12q21.31	2011-02-11	2011-02-11	2011-02-11	ENSG00000165899	ENSG00000165899			26901	protein-coding gene	gene with protein product		614925	"chromosome 12 open reading frame 64"	C12orf64			Standard	NM_173591		Approved	FLJ90579	uc001szd.3	Q3ZCN5	OTTHUMG00000150509	ENST00000547103.1:c.5603T>C	12.37:g.80749588T>C	ENSP00000447211:p.Leu1868Pro					OTOGL_ENST00000547103.1_Missense_Mutation_p.L1868P	p.L1880P	NM_173591.3	NP_775862.3					46	5645	+								F8W0C3|Q495U8|Q8N8G5|Q8NC28	Missense_Mutation	SNP	ENST00000547103.1	37	c.5639T>C		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	16.25|16.25	3.070274|3.070274	0.55539|0.55539	.|.	.|.	ENSG00000165899|ENSG00000165899	ENST00000547103;ENST00000458043|ENST00000298820	T;T|.	0.16073|.	2.37;2.37|.	5.33|5.33	5.33|5.33	0.75918|0.75918	.|.	.|.	.|.	.|.	.|.	T|T	0.72479|0.72479	0.3465|0.3465	M|M	0.68317|0.68317	2.08|2.08	0.58432|0.58432	D|D	0.999999|0.999999	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.72527|0.72527	-0.4266|-0.4266	7|5	0.25106|.	T|.	0.35|.	.|.	15.3086|15.3086	0.74014|0.74014	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|.	.|.	.|.	P|H	1868;1880|323	ENSP00000447211:L1868P;ENSP00000400895:L1880P|.	ENSP00000400895:L1880P|.	L|Y	+|+	2|1	0|0	OTOGL|OTOGL	79273719|79273719	1.000000|1.000000	0.71417|0.71417	0.686000|0.686000	0.30086|0.30086	0.313000|0.313000	0.28021|0.28021	5.697000|5.697000	0.68295|0.68295	2.029000|2.029000	0.59856|0.59856	0.482000|0.482000	0.46254|0.46254	CTA|TAT		0.448	OTOGL-001	NOVEL	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000407438.1	NM_173591		10	85	0	0	0	1	0	10	85					C	80749588	T	C	80749588	3	2	228	1	0	0	0	0	1	0	0	0	1707	1522	53	4	5821	4	C12orf64	12	80749588	Missense_Mutation	SNP	T	TCGA-HC-8216-01A-11D-A29Q-08	27928952	80749588	53102307	100	10574											
AMDHD1	144193	broad.mit.edu	37	chr12	96354372	96354372	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tacagattaacttccatgggGatgaactccacccgatgaag	13	9	9	10	1	0	3	0	2	0	1	2	5	2	4	3	2	3	0	3	2	4	3			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr12:96354372G>T	ENST00000266736.2	+	5	890	c.784G>T	c.(784-786)Gat>Tat	p.D262Y		NM_152435.2	NP_689648.2	Q96NU7	HUTI_HUMAN	amidohydrolase domain containing 1	262					cellular nitrogen compound metabolic process (GO:0034641)|histidine catabolic process (GO:0006548)|histidine catabolic process to glutamate and formamide (GO:0019556)|histidine catabolic process to glutamate and formate (GO:0019557)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	imidazolonepropionase activity (GO:0050480)|metal ion binding (GO:0046872)			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|skin(1)	22						CTTCCATGGGGATGAACTCCA	0.408																																						ENST00000266736.2																			0				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|skin(1)	22						c.(784-786)Gat>Tat		amidohydrolase domain containing 1							99	97	98					12																	96354372		2203	4300	6503	SO:0001583	missense	144193				histidine catabolic process to glutamate and formamide	cytosol	imidazolonepropionase activity|metal ion binding	g.chr12:96354372G>T	AB075878	CCDS9057.1	12q23.1	2006-02-02				ENSG00000139344			28577	protein-coding gene	gene with protein product							Standard	NM_152435		Approved	MGC35366	uc001tel.2	Q96NU7	OTTHUMG00000170353	ENST00000266736.2:c.784G>T	12.37:g.96354372G>T	ENSP00000266736:p.Asp262Tyr						p.D262Y	NM_152435.2	NP_689648.2	Q96NU7	HUTI_HUMAN			5	890	+			262					A8K463|Q68CI8	Missense_Mutation	SNP	ENST00000266736.2	37	c.784G>T	CCDS9057.1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.351516	0.82132	.	.	ENSG00000139344	ENST00000266736	T	0.39406	1.08	5.55	5.55	0.83447	Metal-dependent hydrolase, composite domain (1);	0.083237	0.85682	D	0.000000	T	0.76765	0.4033	H	0.95679	3.705	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.83512	0.0081	10	0.87932	D	0	-0.7636	19.8741	0.96863	0.0:0.0:1.0:0.0	.	262	Q96NU7	HUTI_HUMAN	Y	262	ENSP00000266736:D262Y	ENSP00000266736:D262Y	D	+	1	0	AMDHD1	94878503	1.000000	0.71417	1.000000	0.80357	0.606000	0.37113	9.062000	0.93920	2.761000	0.94854	0.655000	0.94253	GAT		0.408	AMDHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408640.1	NM_152435		14	87	1	0	1.5739e-10	1	1.91272e-10	14	87					T	96354372	G	T	96354372	3	4	228	1	0	0	0	0	1	0	0	0	567	1174	41	5	802	5	AMDHD1	12	96354372	Missense_Mutation	SNP	G	TCGA-HC-8216-01A-11D-A29Q-08	15604784	96354372	37497523	101	10575											
GNPTAB	79158	broad.mit.edu	37	chr12	102151047	102151047	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	catgagaaacgttggtacgaAtcattttaaaagcgatttct	14	13	8	6	3	2	1	1	1	1	1	2	4	2	1	0	1	3	2	0	1	5	5			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr12:102151047A>T	ENST00000299314.7	-	18	3639	c.3377T>A	c.(3376-3378)aTt>aAt	p.I1126N		NM_024312.4	NP_077288.2	Q3T906	GNPTA_HUMAN	N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits	1126					carbohydrate phosphorylation (GO:0046835)|cell differentiation (GO:0030154)|lysosome organization (GO:0007040)|protein secretion (GO:0009306)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity (GO:0003976)			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(8)|lung(8)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	37						GTTGGTACGAATCATTTTAAA	0.274																																						ENST00000299314.7																			0				NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(8)|lung(8)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	37						c.(3376-3378)aTt>aAt		N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits							76	73	74					12																	102151047		2203	4300	6503	SO:0001583	missense	79158				cell differentiation	Golgi membrane|integral to membrane|nucleus	metal ion binding|transcription factor binding|UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity	g.chr12:102151047A>T	AY687932	CCDS9088.1	12q23.3	2013-01-10				ENSG00000111670		"EF-hand domain containing"	29670	protein-coding gene	gene with protein product		607840		GNPTA		10574462, 16116615	Standard	NM_024312		Approved	KIAA1208, MGC4170	uc001tit.3	Q3T906	OTTHUMG00000170444	ENST00000299314.7:c.3377T>A	12.37:g.102151047A>T	ENSP00000299314:p.Ile1126Asn						p.I1126N	NM_024312.4	NP_077288.2	Q3T906	GNPTA_HUMAN			18	3639	-			1126					A2RRQ9|Q3ZQK2|Q6IPW5|Q86TQ2|Q96N13|Q9ULL2	Missense_Mutation	SNP	ENST00000299314.7	37	c.3377T>A	CCDS9088.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	26.8|26.8	4.772547|4.772547	0.90108|0.90108	.|.	.|.	ENSG00000111670|ENSG00000111670	ENST00000550718|ENST00000299314	.|D	.|0.82526	.|-1.62	6.06|6.06	6.06|6.06	0.98353|0.98353	.|.	.|0.056869	.|0.64402	.|D	.|0.000001	D|D	0.89536|0.89536	0.6743|0.6743	M|M	0.69823|0.69823	2.125|2.125	0.80722|0.80722	D|D	1|1	.|D	.|0.69078	.|0.997	.|P	.|0.60541	.|0.876	D|D	0.90532|0.90532	0.4496|0.4496	5|10	.|0.87932	.|D	.|0	-25.982|-25.982	16.6154|16.6154	0.84909|0.84909	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|1126	.|Q3T906	.|GNPTA_HUMAN	E|N	63|1126	.|ENSP00000299314:I1126N	.|ENSP00000299314:I1126N	D|I	-|-	3|2	2|0	GNPTAB|GNPTAB	100675178|100675178	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	8.927000|8.927000	0.92846|0.92846	2.315000|2.315000	0.78130|0.78130	0.533000|0.533000	0.62120|0.62120	GAT|ATT		0.274	GNPTAB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409182.1			4	37	0	0	0	1	0	4	37					T	102151047	A	T	102151047	3	4	228	1	0	0	0	0	1	0	0	0	6545	101	4	5	409	5	GNPTAB	12	102151047	Missense_Mutation	SNP	A	TCGA-HC-8216-01A-11D-A29Q-08	5796675	102151047	31700848	102	10576											
STAB2	55576	broad.mit.edu	37	chr12	104046416	104046416	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tggtcagatgaacatcgaatAtatgaataacacagacatgt	17	10	8	6	1	1	4	1	2	0	2	2	5	1	4	0	1	2	0	0	1	6	3			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr12:104046416A>G	ENST00000388887.2	+	12	1544	c.1340A>G	c.(1339-1341)tAt>tGt	p.Y447C	RP11-341G23.2_ENST00000551905.1_RNA	NM_017564.9	NP_060034.9			stabilin 2											NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						AACATCGAATATATGAATAAC	0.403																																						ENST00000388887.2																			0				NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						c.(1339-1341)tAt>tGt		stabilin 2							99	92	94					12																	104046416		2203	4300	6503	SO:0001583	missense	55576				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity	g.chr12:104046416A>G	AF160476	CCDS31888.1	12q23.3	2007-01-29				ENSG00000136011			18629	protein-coding gene	gene with protein product	"hyaluronic acid receptor for endocytosis"	608561				11829752, 12077138	Standard	XR_429107		Approved	DKFZP434E0321, FELL, STAB-2, HARE, FEEL-2	uc001tjw.3	Q8WWQ8	OTTHUMG00000170056	ENST00000388887.2:c.1340A>G	12.37:g.104046416A>G	ENSP00000373539:p.Tyr447Cys						p.Y447C	NM_017564.9	NP_060034.9	Q8WWQ8	STAB2_HUMAN			12	1544	+			447			FAS1 1.			Missense_Mutation	SNP	ENST00000388887.2	37	c.1340A>G	CCDS31888.1	.	.	.	.	.	.	.	.	.	.	A	7.039	0.562113	0.13498	.	.	ENSG00000136011	ENST00000388887	D	0.90444	-2.67	5.82	-10.4	0.00318	FAS1 domain (5);	4.856860	0.00447	N	0.000085	T	0.77089	0.4079	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.08055	0.003	T	0.64647	-0.6358	10	0.39692	T	0.17	.	8.5084	0.33201	0.1192:0.0911:0.6093:0.1804	.	447	Q8WWQ8	STAB2_HUMAN	C	447	ENSP00000373539:Y447C	ENSP00000373539:Y447C	Y	+	2	0	STAB2	102570546	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.463000	0.06696	-1.294000	0.02360	-0.290000	0.09829	TAT		0.403	STAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407089.1			9	29	0	0	0	1	0	9	29					G	104046416	A	G	104046416	3	3	228	1	0	0	0	0	1	0	0	0	15237	449	16	4	1386	4	STAB2	12	104046416	Missense_Mutation	SNP	A	TCGA-HC-8216-01A-11D-A29Q-08	1895369	104046416	29805479	103	10577											
WSCD2	9671	broad.mit.edu	37	chr12	108603945	108603945	+	Missense_Mutation	SNP	G	G	T																															cggcgccgagtgctactgcgGccacaagatccaggcgacga																										TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr12:108603945G>T	ENST00000332082.4	+	5	1363	c.545G>T	c.(544-546)gGc>gTc	p.G182V	WSCD2_ENST00000261400.3_Missense_Mutation_p.G182V|WSCD2_ENST00000549903.1_Missense_Mutation_p.G182V|WSCD2_ENST00000547525.1_Missense_Mutation_p.G182V			Q2TBF2	WSCD2_HUMAN	WSC domain containing 2	182	WSC 1. {ECO:0000255|PROSITE- ProRule:PRU00558}.					integral component of membrane (GO:0016021)				breast(4)|endometrium(3)|kidney(1)|large_intestine(16)|liver(2)|lung(23)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	57						TGCTACTGCGGCCACAAGATC	0.672																																						ENST00000332082.4																			0				breast(4)|endometrium(3)|kidney(1)|large_intestine(16)|liver(2)|lung(23)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	57						c.(544-546)gGc>gTc		WSC domain containing 2							33	38	36					12																	108603945		2197	4286	6483	SO:0001583	missense	9671					integral to membrane		g.chr12:108603945G>T		CCDS41828.1	12q23.3	2008-02-05				ENSG00000075035			29117	protein-coding gene	gene with protein product							Standard	NM_014653		Approved	KIAA0789	uc001tms.3	Q2TBF2		ENST00000332082.4:c.545G>T	12.37:g.108603945G>T	ENSP00000331933:p.Gly182Val					WSCD2_ENST00000261400.3_Missense_Mutation_p.G182V|WSCD2_ENST00000547525.1_Missense_Mutation_p.G182V|WSCD2_ENST00000549903.1_Missense_Mutation_p.G182V	p.G182V			Q2TBF2	WSCD2_HUMAN			5	1363	+			182			WSC 1.		B2RN48|B4DES1|Q8IY35|Q9Y4B7	Missense_Mutation	SNP	ENST00000332082.4	37	c.545G>T	CCDS41828.1	.	.	.	.	.	.	.	.	.	.	G	27.1	4.800272	0.90538	.	.	ENSG00000075035	ENST00000547525;ENST00000261400;ENST00000551638;ENST00000332082;ENST00000549903	T;T;T;T;T	0.62941	-0.01;-0.01;-0.01;-0.01;-0.01	5.22	5.22	0.72569	Carbohydrate-binding WSC (2);Carbohydrate-binding WSC, subgroup (1);	0.000000	0.85682	D	0.000000	D	0.87107	0.6095	H	0.99197	4.465	0.80722	D	1	D	0.55385	0.971	P	0.60949	0.881	D	0.92680	0.6157	10	0.87932	D	0	-39.4008	17.3431	0.87303	0.0:0.0:1.0:0.0	.	182	Q2TBF2	WSCD2_HUMAN	V	182;182;29;182;182	ENSP00000448047:G182V;ENSP00000261400:G182V;ENSP00000446744:G29V;ENSP00000331933:G182V;ENSP00000447272:G182V	ENSP00000261400:G182V	G	+	2	0	WSCD2	107128075	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	9.024000	0.93689	2.436000	0.82500	0.555000	0.69702	GGC		0.672	WSCD2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405554.1	NM_014653		4	53	1	0	1	1	1	4	53					T	108603945	G	T	108603945	3	4	228	1	0	0	0	0	1	0	0	0	17404	1203	42	5	555	5	WSCD2	12	108603945	Missense_Mutation	SNP	G	TCGA-HC-8216-01A-11D-A29Q-08	4557529	108603945	25247950	104	10578	57	2									
WSCD2	9671	broad.mit.edu	37	chr12	108603946	108603946	+	Silent	SNP	C	C	T																															ggcgccgagtgctactgcggCcacaagatccaggcgacgaa																										TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr12:108603946C>T	ENST00000332082.4	+	5	1364	c.546C>T	c.(544-546)ggC>ggT	p.G182G	WSCD2_ENST00000261400.3_Silent_p.G182G|WSCD2_ENST00000549903.1_Silent_p.G182G|WSCD2_ENST00000547525.1_Silent_p.G182G			Q2TBF2	WSCD2_HUMAN	WSC domain containing 2	182	WSC 1. {ECO:0000255|PROSITE- ProRule:PRU00558}.					integral component of membrane (GO:0016021)				breast(4)|endometrium(3)|kidney(1)|large_intestine(16)|liver(2)|lung(23)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	57						GCTACTGCGGCCACAAGATCC	0.667																																						ENST00000332082.4																			0				breast(4)|endometrium(3)|kidney(1)|large_intestine(16)|liver(2)|lung(23)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	57						c.(544-546)ggC>ggT		WSC domain containing 2																																				SO:0001819	synonymous_variant	9671					integral to membrane		g.chr12:108603946C>T		CCDS41828.1	12q23.3	2008-02-05				ENSG00000075035			29117	protein-coding gene	gene with protein product							Standard	NM_014653		Approved	KIAA0789	uc001tms.3	Q2TBF2		ENST00000332082.4:c.546C>T	12.37:g.108603946C>T						WSCD2_ENST00000261400.3_Silent_p.G182G|WSCD2_ENST00000547525.1_Silent_p.G182G|WSCD2_ENST00000549903.1_Silent_p.G182G	p.G182G			Q2TBF2	WSCD2_HUMAN			5	1364	+			182			WSC 1.		B2RN48|B4DES1|Q8IY35|Q9Y4B7	Silent	SNP	ENST00000332082.4	37	c.546C>T	CCDS41828.1																																																																																				0.667	WSCD2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405554.1	NM_014653		4	53	0	0	0	1	0	4	53					T	108603946	C	T	108603946	2	4	228	1	0	0	0	0	0	0	0	1	17404	726	26	3		3	WSCD2	12	108603946	Silent	SNP	C	TCGA-HC-8216-01A-11D-A29Q-08	1	108603946	25247949	105	10579	57	2									
SLITRK5	26050	broad.mit.edu	37	chr13	88328640	88328640	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cccctttgaagccccctaagGggactcgccaacccaacaag	11	5	8	17	1	0	1	0	1	0	0	1	2	0	2	6	2	3	0	6	2	5	2			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr13:88328640G>C	ENST00000325089.6	+	2	1216	c.997G>C	c.(997-999)Ggg>Cgg	p.G333R	SLITRK5_ENST00000400028.3_Missense_Mutation_p.G92R	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5	333					adult behavior (GO:0030534)|axonogenesis (GO:0007409)|cardiovascular system development (GO:0072358)|dendrite morphogenesis (GO:0048813)|grooming behavior (GO:0007625)|response to xenobiotic stimulus (GO:0009410)|skin development (GO:0043588)|striatum development (GO:0021756)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81	all_neural(89;0.101)|Medulloblastoma(90;0.163)					GCCCCCTAAGGGGACTCGCCA	0.582																																						ENST00000325089.6																			0				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81						c.(997-999)Ggg>Cgg		SLIT and NTRK-like family, member 5							63	70	67					13																	88328640		2203	4300	6503	SO:0001583	missense	26050					integral to membrane		g.chr13:88328640G>C	AB020725	CCDS9465.1	13q31.1	2004-04-16	2004-01-08		ENSG00000165300	ENSG00000165300			20295	protein-coding gene	gene with protein product		609680	"leucine rich repeat containing 11"	LRRC11		10048485, 14557068	Standard	NM_015567		Approved	bA364G4.2, KIAA0918	uc001vln.3	O94991	OTTHUMG00000017167	ENST00000325089.6:c.997G>C	13.37:g.88328640G>C	ENSP00000366283:p.Gly333Arg					SLITRK5_ENST00000400028.3_Missense_Mutation_p.G92R	p.G333R	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN			2	1216	+	all_neural(89;0.101)|Medulloblastoma(90;0.163)		333					B3KNB8|B4DSH5|Q5VT81	Missense_Mutation	SNP	ENST00000325089.6	37	c.997G>C	CCDS9465.1	.	.	.	.	.	.	.	.	.	.	G	14.08	2.428320	0.43122	.	.	ENSG00000165300	ENST00000325089;ENST00000400028	T;T	0.58060	0.36;0.67	5.85	5.85	0.93711	.	0.057006	0.64402	D	0.000001	T	0.44912	0.1316	L	0.44542	1.39	0.50632	D	0.999889	P;B	0.46859	0.885;0.389	B;B	0.41860	0.368;0.25	T	0.35500	-0.9786	9	.	.	.	-15.0226	11.0032	0.47618	0.0838:0.0:0.9162:0.0	.	92;333	B4DSH5;O94991	.;SLIK5_HUMAN	R	333;92	ENSP00000366283:G333R;ENSP00000442244:G92R	.	G	+	1	0	SLITRK5	87126641	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.026000	0.88783	2.771000	0.95319	0.561000	0.74099	GGG		0.582	SLITRK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045416.3			4	161	0	0	0	1	0	4	161					C	88328640	G	C	88328640	3	2	228	1	0	0	0	0	1	0	0	0	14746	1232	43	5	999	5	SLITRK5	13	88328640	Missense_Mutation	SNP	G	TCGA-HC-8216-01A-11D-A29Q-08		88328640	26841238	106	10580											
NALCN	259232	broad.mit.edu	37	chr13	101759839	101759839	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaaatgaagtgtacttacgCgttgaagcgtgctcggacca	11	10	12	8	4	0	3	0	3	0	0	1	4	0	4	1	1	4	3	1	1	5	3	rs369137916		TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr13:101759839C>T	ENST00000251127.6	-	22	2659	c.2578G>A	c.(2578-2580)Gca>Aca	p.A860T		NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	860					calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|cell death (GO:0008219)|ion transmembrane transport (GO:0034220)|membrane depolarization during action potential (GO:0086010)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium channel activity (GO:0005272)|voltage-gated calcium channel activity (GO:0005245)			NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					TGTACTTACGCGTTGAAGCGT	0.502																																						ENST00000251127.6																			0				NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177						c.e22+1		sodium leak channel, non-selective		C	THR/ALA	1,4405	2.1+/-5.4	0,1,2202	106	93	97		2578	5.6	1	13		97	0,8600		0,0,4300	no	missense-near-splice	NALCN	NM_052867.2	58	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign	860/1739	101759839	1,13005	2203	4300	6503	SO:0001630	splice_region_variant	259232					integral to membrane	sodium channel activity|voltage-gated ion channel activity	g.chr13:101759839C>T	AY141972	CCDS9498.1	13q32.3	2012-02-21	2007-04-26	2007-04-26	ENSG00000102452	ENSG00000102452		"Ion channels / Sodium leak channels, non-selective"	19082	protein-coding gene	gene with protein product		611549	"voltage gated channel like 1"	VGCNL1		17448995	Standard	XM_006719943		Approved	bA430M15.1, CanIon	uc001vox.1	Q8IZF0	OTTHUMG00000017295	ENST00000251127.6:c.2579+1G>A	13.37:g.101759839C>T							p.A860_splice	NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN			22	2659	-	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		860					Q6P2S6|Q6ZMI7|Q8IZZ1|Q8TAH1	Splice_Site	SNP	ENST00000251127.6	37	c.2579_splice	CCDS9498.1	.	.	.	.	.	.	.	.	.	.	C	16.89	3.247967	0.59103	2.27E-4	0.0	ENSG00000102452	ENST00000251127	D	0.97665	-4.48	5.61	5.61	0.85477	.	0.053024	0.85682	D	0.000000	D	0.95519	0.8544	L	0.54323	1.7	0.80722	D	1	B	0.21520	0.057	B	0.17433	0.018	D	0.92853	0.6299	10	0.25106	T	0.35	.	19.6572	0.95847	0.0:1.0:0.0:0.0	.	860	Q8IZF0	NALCN_HUMAN	T	860	ENSP00000251127:A860T	ENSP00000251127:A860T	A	-	1	0	NALCN	100557840	1.000000	0.71417	1.000000	0.80357	0.772000	0.43724	5.916000	0.69981	2.630000	0.89119	0.650000	0.86243	GCA		0.502	NALCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045663.2	NM_052867	Missense_Mutation	8	63	0	0	0	1	0	8	63					T	101759839	C	T	101759839	5	4	228	1	0	0	0	0	0	0	1	0	10148	782	27	1	2730	1	NALCN	13	101759839	Splice_Site	SNP	C	TCGA-HC-8216-01A-11D-A29Q-08	13431199	101759839	13410039	107	10581											
PYGL	5836	broad.mit.edu	37	chr14	51401885	51401885	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttcttcaatttcttctaactCttctatatccaatccaagct	10	18	1	12	0	6	0	1	0	5	0	8	0	8	0	2	0	2	1	2	0	6	8	rs144099482		TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr14:51401885C>T	ENST00000216392.7	-	3	696	c.364G>A	c.(364-366)Gag>Aag	p.E122K	PYGL_ENST00000544180.2_Missense_Mutation_p.E88K|PYGL_ENST00000532462.1_Missense_Mutation_p.E122K	NM_002863.4	NP_002854.3	P06737	PYGL_HUMAN	phosphorylase, glycogen, liver	122					5-phosphoribose 1-diphosphate biosynthetic process (GO:0006015)|carbohydrate metabolic process (GO:0005975)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|glycogen metabolic process (GO:0005977)|necroptotic process (GO:0070266)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	AMP binding (GO:0016208)|ATP binding (GO:0005524)|bile acid binding (GO:0032052)|drug binding (GO:0008144)|glucose binding (GO:0005536)|glycogen phosphorylase activity (GO:0008184)|protein homodimerization activity (GO:0042803)|purine nucleobase binding (GO:0002060)|pyridoxal phosphate binding (GO:0030170)|vitamin binding (GO:0019842)			NS(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)|skin(3)	25	all_epithelial(31;0.00825)|Breast(41;0.148)				Adenosine monophosphate(DB00131)	TCTTCTAACTCTTCTATATCC	0.418													C|||	1	0.000199681	0	0.0014	5008	,	,		22838	0		0	False		,,,				2504	0					ENST00000216392.7																			0				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)|skin(3)	25						c.(364-366)Gag>Aag		phosphorylase, glycogen, liver	Adenosine monophosphate(DB00131)|Pyridoxal Phosphate(DB00114)|Riboflavin(DB00140)	C	LYS/GLU,LYS/GLU	0,4406		0,0,2203	141	118	125		262,364	5.6	1	14	dbSNP_134	125	4,8596	3.7+/-12.6	0,4,4296	yes	missense,missense	PYGL	NM_001163940.1,NM_002863.4	56,56	0,4,6499	TT,TC,CC		0.0465,0.0,0.0308	possibly-damaging,possibly-damaging	88/814,122/848	51401885	4,13002	2203	4300	6503	SO:0001583	missense	5836				glucose homeostasis|glucose metabolic process|glycogen catabolic process	cytosol|soluble fraction	AMP binding|ATP binding|bile acid binding|drug binding|glucose binding|glycogen phosphorylase activity|protein homodimerization activity|purine base binding|pyridoxal phosphate binding	g.chr14:51401885C>T		CCDS32080.1, CCDS53894.1	14q11.2-q24.3	2013-03-01	2008-07-31		ENSG00000100504	ENSG00000100504	2.4.1.1	"Glycogen phosphorylases"	9725	protein-coding gene	gene with protein product	"Hers disease", "glycogen storage disease type VI", "glycogen phosphorylase, liver form"	613741	"phosphorylase, glycogen; liver"			2877458	Standard	NM_002863		Approved		uc001wyu.3	P06737	OTTHUMG00000166596	ENST00000216392.7:c.364G>A	14.37:g.51401885C>T	ENSP00000216392:p.Glu122Lys					PYGL_ENST00000544180.2_Missense_Mutation_p.E88K|PYGL_ENST00000532462.1_Missense_Mutation_p.E122K	p.E122K	NM_002863.4	NP_002854.3	P06737	PYGL_HUMAN			3	696	-	all_epithelial(31;0.00825)|Breast(41;0.148)		122					A6NDQ4|B4DUB7|F5H816|O60567|O60752|O60913|Q501V9|Q641R5|Q96G82	Missense_Mutation	SNP	ENST00000216392.7	37	c.364G>A	CCDS32080.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	35	5.441326	0.96187	0.0	4.65E-4	ENSG00000100504	ENST00000532462;ENST00000544180;ENST00000216392	D;D;D	0.94457	-3.43;-3.43;-3.43	5.62	5.62	0.85841	.	0.044135	0.85682	D	0.000000	D	0.96318	0.8799	M	0.73319	2.225	0.80722	D	1	P;P;P	0.50710	0.899;0.763;0.938	P;B;P	0.55871	0.786;0.25;0.733	D	0.96191	0.9138	10	0.62326	D	0.03	-20.6032	18.9996	0.92828	0.0:1.0:0.0:0.0	.	88;144;122	F5H816;Q6P1L4;P06737	.;.;PYGL_HUMAN	K	122;88;122	ENSP00000431657:E122K;ENSP00000443787:E88K;ENSP00000216392:E122K	ENSP00000216392:E122K	E	-	1	0	PYGL	50471635	1.000000	0.71417	1.000000	0.80357	0.807000	0.45602	7.503000	0.81632	2.797000	0.96272	0.555000	0.69702	GAG		0.418	PYGL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390654.3	NM_002863		4	36	0	0	0	1	0	4	36					T	51401885	C	T	51401885	3	4	228	1	0	0	0	0	1	0	0	0	12861	922	32	3	2251	3	PYGL	14	51401885	Missense_Mutation	SNP	C	TCGA-HC-8216-01A-11D-A29Q-08		51401885	55947655	108	10582											
ZFYVE26	23503	broad.mit.edu	37	chr14	68272329	68272329	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttctttcaacaatgttagtgCtgttacctgtaagtcaaaga	12	15	7	7	0	3	1	2	0	1	1	3	1	3	1	1	0	3	4	1	0	6	5	rs200966618		TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr14:68272329C>T	ENST00000347230.4	-	7	1162	c.1024G>A	c.(1024-1026)Gca>Aca	p.A342T	ZFYVE26_ENST00000555452.1_Missense_Mutation_p.A342T	NM_015346.3	NP_056161.2	Q68DK2	ZFY26_HUMAN	zinc finger, FYVE domain containing 26	342					cell death (GO:0008219)|cytokinesis (GO:0000910)|double-strand break repair via homologous recombination (GO:0000724)	centrosome (GO:0005813)|lysosomal membrane (GO:0005765)|midbody (GO:0030496)	metal ion binding (GO:0046872)|phosphatidylinositol-3-phosphate binding (GO:0032266)			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	94				all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)		AATGTTAGTGCTGTTACCTGT	0.433													C|||	1	0.000199681	0	0	5008	,	,		22021	0.001		0	False		,,,				2504	0					ENST00000347230.4																			0				NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	94						c.(1024-1026)Gca>Aca		zinc finger, FYVE domain containing 26							78	71	73					14																	68272329		2203	4300	6503	SO:0001583	missense	23503				cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination	centrosome|midbody	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding	g.chr14:68272329C>T	AB002319	CCDS9788.1	14q23.3	2012-11-23				ENSG00000072121		"Zinc fingers, FYVE domain containing"	20761	protein-coding gene	gene with protein product	"spastizin", "FYVE-CENT"	612012	"spastic paraplegia 15 (complicated, autosomal recessive)"	SPG15		9205841, 18394578	Standard	NM_015346		Approved	KIAA0321	uc001xka.2	Q68DK2		ENST00000347230.4:c.1024G>A	14.37:g.68272329C>T	ENSP00000251119:p.Ala342Thr					ZFYVE26_ENST00000555452.1_Missense_Mutation_p.A342T	p.A342T	NM_015346.3	NP_056161.2	Q68DK2	ZFY26_HUMAN		all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)	7	1162	-			342					B1B5Y3|B4E2U3|O15035|Q68DT9|Q6AW90|Q6ZR50|Q7Z3A4|Q7Z3I1|Q8N4W7	Missense_Mutation	SNP	ENST00000347230.4	37	c.1024G>A	CCDS9788.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	34	5.316763	0.95682	.	.	ENSG00000072121	ENST00000347230;ENST00000411699;ENST00000555452	T;T	0.50813	0.9;0.73	5.5	5.5	0.81552	.	0.055458	0.64402	D	0.000001	T	0.68155	0.2970	M	0.64997	1.995	0.53688	D	0.999976	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.81914	0.995;0.993;0.976	T	0.68735	-0.5330	10	0.72032	D	0.01	-12.6991	19.6014	0.95563	0.0:1.0:0.0:0.0	.	342;342;342	Q68DK2-4;G3V2D8;Q68DK2	.;.;ZFY26_HUMAN	T	342;321;342	ENSP00000251119:A342T;ENSP00000450603:A342T	ENSP00000251119:A342T	A	-	1	0	ZFYVE26	67342082	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.776000	0.75023	2.854000	0.98071	0.655000	0.94253	GCA		0.433	ZFYVE26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412736.2	NM_015346		10	59	0	0	0	1	0	10	59					T	68272329	C	T	68272329	3	4	228	1	0	0	0	0	1	0	0	0	17665	797	28	3	6739	3	ZFYVE26	14	68272329	Missense_Mutation	SNP	C	TCGA-HC-8216-01A-11D-A29Q-08	16870444	68272329	39077211	109	10583											
MTMR15	22909	broad.mit.edu	37	chr15	31196925	31196925	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcgtagaagcttatcaatcaGcaagaataagaaaaaagcat	20	8	7	6	1	2	3	2	0	0	3	3	3	2	3	0	0	3	4	0	0	10	3			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr15:31196925G>T	ENST00000362065.4	+	2	350	c.59G>T	c.(58-60)aGc>aTc	p.S20I	FAN1_ENST00000561594.1_Missense_Mutation_p.S20I|FAN1_ENST00000565466.1_Missense_Mutation_p.S20I|FAN1_ENST00000561607.1_Missense_Mutation_p.S20I	NM_014967.4	NP_055782.3	Q9Y2M0	FAN1_HUMAN	FANCD2/FANCI-associated nuclease 1	20					DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA incision (GO:0033683)	nucleus (GO:0005634)	5'-3' exonuclease activity (GO:0008409)|5'-flap endonuclease activity (GO:0017108)|DNA binding (GO:0003677)|magnesium ion binding (GO:0000287)|phosphodiesterase I activity (GO:0004528)|ubiquitin binding (GO:0043130)			autonomic_ganglia(2)|breast(2)|cervix(2)|endometrium(7)|kidney(1)|large_intestine(6)|lung(8)|skin(1)	29						TTATCAATCAGCAAGAATAAG	0.388								Direct reversal of damage																														ENST00000362065.4																			0				autonomic_ganglia(2)|breast(2)|cervix(2)|endometrium(7)|kidney(1)|large_intestine(6)|lung(8)|skin(1)	29						c.(58-60)aGc>aTc	Direct reversal of damage	FANCD2/FANCI-associated nuclease 1							73	80	77					15																	31196925		2202	4300	6502	SO:0001583	missense	22909				double-strand break repair via homologous recombination|nucleotide-excision repair, DNA incision	nucleus	5'-3' exonuclease activity|5'-flap endonuclease activity|DNA binding|magnesium ion binding|phosphodiesterase I activity|ubiquitin binding	g.chr15:31196925G>T		CCDS32186.1, CCDS58344.1	15q13.2-q13.3	2010-08-04	2010-08-04	2010-08-04		ENSG00000198690			29170	protein-coding gene	gene with protein product		613534	"KIAA1018", "myotubularin related protein 15"	KIAA1018, MTMR15		20603015, 20603016, 20603073	Standard	NM_014967		Approved		uc001zff.3	Q9Y2M0		ENST00000362065.4:c.59G>T	15.37:g.31196925G>T	ENSP00000354497:p.Ser20Ile					FAN1_ENST00000561607.1_Missense_Mutation_p.S20I|FAN1_ENST00000565466.1_Missense_Mutation_p.S20I|FAN1_ENST00000561594.1_Missense_Mutation_p.S20I	p.S20I	NM_014967.4	NP_055782.3	Q9Y2M0	FAN1_HUMAN			2	350	+			20					A8K4M2|Q86WU8	Missense_Mutation	SNP	ENST00000362065.4	37	c.59G>T	CCDS32186.1	.	.	.	.	.	.	.	.	.	.	g	23.1	4.375557	0.82682	.	.	ENSG00000198690	ENST00000362065	D	0.87179	-2.22	5.28	0.0201	0.14123	.	0.486738	0.24160	N	0.040985	D	0.88392	0.6424	M	0.61703	1.905	0.09310	N	0.999999	D;D	0.76494	0.966;0.999	P;D	0.65010	0.691;0.931	T	0.78486	-0.2185	10	0.66056	D	0.02	-3.5	3.8585	0.08985	0.2916:0.0:0.4468:0.2616	.	20;20	Q9Y2M0;Q9Y2M0-2	FAN1_HUMAN;.	I	20	ENSP00000354497:S20I	ENSP00000354497:S20I	S	+	2	0	FAN1	28984217	0.879000	0.30193	0.002000	0.10522	0.930000	0.56654	0.771000	0.26633	0.040000	0.15660	0.555000	0.69702	AGC		0.388	FAN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430740.1	NM_014967		4	67	1	0	0.00909568	1	0.0094186	4	67					T	31196925	G	T	31196925	3	4	228	1	0	0	0	0	1	0	0	0	9943	971	34	5	61	5	MTMR15	15	31196925	Missense_Mutation	SNP	G	TCGA-HC-8216-01A-11D-A29Q-08		31196925	71334467	110	10584											
RYR3	6263	broad.mit.edu	37	chr15	33988496	33988496	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tccaggattcagagctggtcCgaatgatgttcaacctcctc	9	11	9	12	1	2	2	2	1	0	1	6	4	5	3	4	2	2	2	4	2	2	2			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr15:33988496C>T	ENST00000389232.4	+	39	6008	c.5938C>T	c.(5938-5940)Cga>Tga	p.R1980*	RYR3_ENST00000415757.3_Nonsense_Mutation_p.R1980*	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	1980	4 X approximate repeats.				calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)	p.R1980*(1)		NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		AGAGCTGGTCCGAATGATGTT	0.562																																						ENST00000389232.4																			1	Substitution - Nonsense(1)	p.R1980*(1)	upper_aerodigestive_tract(1)	NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311						c.(5938-5940)Cga>Tga		ryanodine receptor 3							69	71	70					15																	33988496		2096	4248	6344	SO:0001587	stop_gained	6263				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr15:33988496C>T		CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"Ion channels / Ryanodine receptors", "EF-hand domain containing"	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.5938C>T	15.37:g.33988496C>T	ENSP00000373884:p.Arg1980*					RYR3_ENST00000415757.3_Nonsense_Mutation_p.R1980*	p.R1980*	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)	39	6008	+		all_lung(180;7.18e-09)	1980			4 X approximate repeats.		O15175|Q15412	Nonsense_Mutation	SNP	ENST00000389232.4	37	c.5938C>T	CCDS45210.1	.	.	.	.	.	.	.	.	.	.	C	47	13.035475	0.99715	.	.	ENSG00000198838	ENST00000389232;ENST00000415757;ENST00000361728	.	.	.	4.47	3.52	0.40303	.	0.000000	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.7169	0.62702	0.1604:0.8396:0.0:0.0	.	.	.	.	X	1980	.	ENSP00000354735:R1980X	R	+	1	2	RYR3	31775788	0.467000	0.25831	0.993000	0.49108	0.838000	0.47535	0.993000	0.29680	1.174000	0.42811	0.650000	0.86243	CGA		0.562	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1			13	64	0	0	0	1	0	13	64					T	33988496	C	T	33988496	4	4	228	1	0	0	0	0	0	1	0	0	13770	644	23	2	6092	2	RYR3	15	33988496	Nonsense_Mutation	SNP	C	TCGA-HC-8216-01A-11D-A29Q-08	2791571	33988496	68542896	111	10585											
EIF2AK4	440275	broad.mit.edu	37	chr15	40313180	40313180	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gccatcaacctaacccagaaActctggacagcaggcatcac	14	5	7	15	0	3	1	2	0	1	1	3	2	3	2	3	2	4	2	3	2	3	1			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr15:40313180A>G	ENST00000263791.5	+	31	4297	c.4254A>G	c.(4252-4254)aaA>aaG	p.K1418K	EIF2AK4_ENST00000382727.2_Silent_p.K1390K	NM_001013703.2	NP_001013725.2	Q9P2K8	E2AK4_HUMAN	eukaryotic translation initiation factor 2 alpha kinase 4	1418	Histidyl-tRNA synthetase-like.				cellular response to starvation (GO:0009267)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of translation (GO:0017148)|protein phosphorylation (GO:0006468)|regulation of translational initiation (GO:0006446)|regulation of translational initiation in response to stress (GO:0043558)	cytosolic ribosome (GO:0022626)	ATP binding (GO:0005524)|eukaryotic translation initiation factor 2alpha kinase activity (GO:0004694)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)	40		all_cancers(109;1.05e-19)|all_epithelial(112;4.38e-17)|Lung NSC(122;1.09e-12)|all_lung(180;3.56e-11)|Melanoma(134;0.0575)|Ovarian(310;0.0826)|Colorectal(260;0.119)		GBM - Glioblastoma multiforme(113;5.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0616)		TAACCCAGAAACTCTGGACAG	0.478																																						ENST00000263791.5																			0				NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)	40						c.(4252-4254)aaA>aaG		eukaryotic translation initiation factor 2 alpha kinase 4							121	114	116					15																	40313180		2007	4169	6176	SO:0001819	synonymous_variant	440275				translation	cytosolic ribosome	aminoacyl-tRNA ligase activity|ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|protein homodimerization activity	g.chr15:40313180A>G	AB037759	CCDS42016.1	15q13.3	2008-08-18				ENSG00000128829			19687	protein-coding gene	gene with protein product		609280				10504407	Standard	XM_005254392		Approved	GCN2, KIAA1338	uc001zkm.1	Q9P2K8		ENST00000263791.5:c.4254A>G	15.37:g.40313180A>G						EIF2AK4_ENST00000382727.2_Silent_p.K1390K	p.K1418K	NM_001013703.2	NP_001013725.2	Q9P2K8	E2AK4_HUMAN		GBM - Glioblastoma multiforme(113;5.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0616)	31	4297	+		all_cancers(109;1.05e-19)|all_epithelial(112;4.38e-17)|Lung NSC(122;1.09e-12)|all_lung(180;3.56e-11)|Melanoma(134;0.0575)|Ovarian(310;0.0826)|Colorectal(260;0.119)	1418			Histidyl-tRNA synthetase-like.		C9JEC4|Q69YL7|Q6DC97|Q96GN6|Q9H5K1|Q9NSQ3|Q9NSZ5|Q9UJ56	Silent	SNP	ENST00000263791.5	37	c.4254A>G	CCDS42016.1																																																																																				0.478	EIF2AK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418395.1			5	68	0	0	0	1	0	5	68					G	40313180	A	G	40313180	2	3	228	1	0	0	0	0	0	0	0	1	4999	40	2	4		4	EIF2AK4	15	40313180	Silent	SNP	A	TCGA-HC-8216-01A-11D-A29Q-08	6324684	40313180	62218212	112	10586											
SEMA6D	80031	broad.mit.edu	37	chr15	48063581	48063581	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	caactctccccagaaatagcCcaaccaagcgagtggatgtc	13	6	8	14	1	1	1	0	0	1	1	3	3	1	2	4	1	4	0	4	1	5	1			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr15:48063581C>G	ENST00000316364.5	+	19	3260	c.2821C>G	c.(2821-2823)Cca>Gca	p.P941A	SEMA6D_ENST00000536845.2_Missense_Mutation_p.P941A|SEMA6D_ENST00000389432.2_Missense_Mutation_p.P898A|SEMA6D_ENST00000354744.4_Missense_Mutation_p.P885A|SEMA6D_ENST00000537942.1_Missense_Mutation_p.P879A|SEMA6D_ENST00000358066.4_Missense_Mutation_p.P879A|SEMA6D_ENST00000355997.3_3'UTR|SEMA6D_ENST00000389428.3_Missense_Mutation_p.P866A|SEMA6D_ENST00000558014.1_Missense_Mutation_p.P879A|SEMA6D_ENST00000558816.1_3'UTR|SEMA6D_ENST00000389433.2_Missense_Mutation_p.P922A	NM_153618.1	NP_705871.1	Q8NFY4	SEM6D_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D	941					axon guidance (GO:0007411)|negative regulation of smooth muscle cell migration (GO:0014912)|positive regulation of smooth muscle cell migration (GO:0014911)|ventricular system development (GO:0021591)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			biliary_tract(1)|breast(4)|endometrium(4)|kidney(5)|large_intestine(10)|lung(42)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	77		all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18)		all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06)		CAGAAATAGCCCAACCAAGCG	0.517																																						ENST00000316364.5																			0				biliary_tract(1)|breast(4)|endometrium(4)|kidney(5)|large_intestine(10)|lung(42)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	77						c.(2821-2823)Cca>Gca		sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D							115	116	116					15																	48063581		2198	4297	6495	SO:0001583	missense	80031				axon guidance	cytoplasm|integral to membrane|plasma membrane	receptor activity	g.chr15:48063581C>G	AF389430	CCDS32224.1, CCDS32225.1, CCDS32226.1, CCDS32227.1, CCDS32228.1, CCDS32229.1	15q21.1	2006-09-18				ENSG00000137872		"Semaphorins"	16770	protein-coding gene	gene with protein product		609295				12110693, 14977921	Standard	NM_020858		Approved	KIAA1479, FLJ11598	uc001zvy.3	Q8NFY4		ENST00000316364.5:c.2821C>G	15.37:g.48063581C>G	ENSP00000324857:p.Pro941Ala					SEMA6D_ENST00000558816.1_3'UTR|SEMA6D_ENST00000389433.2_Missense_Mutation_p.P922A|SEMA6D_ENST00000537942.1_Missense_Mutation_p.P879A|SEMA6D_ENST00000358066.4_Missense_Mutation_p.P879A|SEMA6D_ENST00000389428.3_Missense_Mutation_p.P866A|SEMA6D_ENST00000354744.4_Missense_Mutation_p.P885A|SEMA6D_ENST00000558014.1_Missense_Mutation_p.P879A|SEMA6D_ENST00000389432.2_Missense_Mutation_p.P898A|SEMA6D_ENST00000355997.3_3'UTR|SEMA6D_ENST00000536845.2_Missense_Mutation_p.P941A	p.P941A	NM_153618.1	NP_705871.1	Q8NFY4	SEM6D_HUMAN		all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06)	19	3260	+		all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18)	941					A6NF10|A6NM95|A6NNK1|A7E2A0|Q8NFY3|Q8NFY5|Q8NFY6|Q8NFY7|Q9P249	Missense_Mutation	SNP	ENST00000316364.5	37	c.2821C>G	CCDS32225.1	.	.	.	.	.	.	.	.	.	.	C	16.93	3.257503	0.59321	.	.	ENSG00000137872	ENST00000537942;ENST00000536845;ENST00000316364;ENST00000389433;ENST00000389432;ENST00000354744;ENST00000358066;ENST00000389428	T;T;T;T;T;T;T;T	0.17854	2.25;2.31;2.31;2.3;2.25;2.25;2.25;2.25	5.8	5.8	0.92144	.	0.054091	0.85682	D	0.000000	T	0.34774	0.0909	L	0.44542	1.39	0.80722	D	1	D;D;P;D	0.67145	0.977;0.996;0.935;0.977	P;D;P;P	0.63192	0.798;0.912;0.759;0.798	T	0.00569	-1.1666	10	0.48119	T	0.1	.	20.0693	0.97712	0.0:1.0:0.0:0.0	.	866;885;941;879	Q8NFY4-3;Q8NFY4-4;Q8NFY4;Q8NFY4-2	.;.;SEM6D_HUMAN;.	A	879;941;941;922;898;885;879;866	ENSP00000442040:P879A;ENSP00000446152:P941A;ENSP00000324857:P941A;ENSP00000374084:P922A;ENSP00000374083:P898A;ENSP00000346786:P885A;ENSP00000350770:P879A;ENSP00000374079:P866A	ENSP00000324857:P941A	P	+	1	0	SEMA6D	45850873	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.487000	0.81328	2.758000	0.94735	0.563000	0.77884	CCA		0.517	SEMA6D-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416868.1	NM_024966		5	161	0	0	0	1	0	5	161					G	48063581	C	G	48063581	3	3	228	1	0	0	0	0	1	0	0	0	14042	623	22	5	2934	5	SEMA6D	15	48063581	Missense_Mutation	SNP	C	TCGA-HC-8216-01A-11D-A29Q-08	7750401	48063581	54467811	113	10587											
FBN1	2200	broad.mit.edu	37	chr15	48780649	48780649	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aatggtgtttctgcacttgcCgtgggtgcagaggctgggta	6	12	16	7	1	1	1	0	0	1	1	1	1	1	1	1	4	3	5	1	4	2	3			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr15:48780649C>T	ENST00000316623.5	-	26	3579	c.3124G>A	c.(3124-3126)Ggc>Agc	p.G1042S		NM_000138.4	NP_000129	P35555	FBN1_HUMAN	fibrillin 1	1042	EGF-like 15; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|kidney development (GO:0001822)|sequestering of BMP in extracellular matrix (GO:0035582)|sequestering of TGFbeta in extracellular matrix (GO:0035583)|skeletal system development (GO:0001501)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		CTGCACTTGCCGTGGGTGCAG	0.458																																						ENST00000316623.5																			0				NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139	GRCh37	CM085409	FBN1	M		c.(3124-3126)Ggc>Agc		fibrillin 1							94	89	91					15																	48780649		2198	4296	6494	SO:0001583	missense	2200				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding	g.chr15:48780649C>T	X63556	CCDS32232.1	15q21.1	2014-09-17	2006-04-25			ENSG00000166147			3603	protein-coding gene	gene with protein product	"Marfan syndrome"	134797	"fibrillin 1 (Marfan syndrome)"	FBN, MFS1, WMS		10036187, 12525539	Standard	NM_000138		Approved	MASS, OCTD, SGS	uc001zwx.2	P35555		ENST00000316623.5:c.3124G>A	15.37:g.48780649C>T	ENSP00000325527:p.Gly1042Ser						p.G1042S	NM_000138.4	NP_000129.3	P35555	FBN1_HUMAN		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)	26	3579	-		all_lung(180;0.00279)	1042			EGF-like 15; calcium-binding.		B2RUU0|D2JYH6|Q15972|Q75N87	Missense_Mutation	SNP	ENST00000316623.5	37	c.3124G>A	CCDS32232.1	.	.	.	.	.	.	.	.	.	.	C	36	5.730736	0.96856	.	.	ENSG00000166147	ENST00000316623	D	0.91996	-2.95	6.17	6.17	0.99709	Matrix fibril-associated (1);EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	D	0.000000	D	0.96272	0.8784	M	0.76838	2.35	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95183	0.8301	10	0.49607	T	0.09	.	20.4745	0.99168	0.0:1.0:0.0:0.0	.	1042	P35555	FBN1_HUMAN	S	1042	ENSP00000325527:G1042S	ENSP00000325527:G1042S	G	-	1	0	FBN1	46567941	1.000000	0.71417	0.996000	0.52242	0.980000	0.70556	7.818000	0.86416	2.941000	0.99782	0.655000	0.94253	GGC		0.458	FBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417355.1			7	84	0	0	0	1	0	7	84					T	48780649	C	T	48780649	3	4	228	1	0	0	0	0	1	0	0	0	5702	652	23	2	5655	2	FBN1	15	48780649	Missense_Mutation	SNP	C	TCGA-HC-8216-01A-11D-A29Q-08	717068	48780649	53750743	114	10588											
VPS13C	54832	broad.mit.edu	37	chr15	62212501	62212501	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtcctttaaagagtagtcAaaagtagaagcagtgccctc	13	10	9	9	0	1	2	1	0	0	2	3	2	2	2	2	0	2	3	2	0	7	4			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr15:62212501A>T	ENST00000261517.5	-	57	7315	c.7242T>A	c.(7240-7242)ttT>ttA	p.F2414L	VPS13C_ENST00000249837.3_Missense_Mutation_p.F2371L|VPS13C_ENST00000395896.4_Missense_Mutation_p.F2414L|VPS13C_ENST00000395898.3_Missense_Mutation_p.F2371L	NM_020821.2	NP_065872.1			vacuolar protein sorting 13 homolog C (S. cerevisiae)											NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						AAGAGTAGTCAAAAGTAGAAG	0.373																																						ENST00000261517.5																			0				NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						c.(7240-7242)ttT>ttA		vacuolar protein sorting 13 homolog C (S. cerevisiae)							57	60	59					15																	62212501		2201	4300	6501	SO:0001583	missense	54832				protein localization			g.chr15:62212501A>T	AJ608770	CCDS10180.1, CCDS32257.1, CCDS45272.1, CCDS58367.1	15q21.3	2009-07-09	2006-04-04		ENSG00000129003	ENSG00000129003			23594	protein-coding gene	gene with protein product		608879	"vacuolar protein sorting 13C (yeast)"				Standard	NM_018080		Approved	FLJ20136, FLJ10381, KIAA1421	uc002agz.3	Q709C8	OTTHUMG00000132801	ENST00000261517.5:c.7242T>A	15.37:g.62212501A>T	ENSP00000261517:p.Phe2414Leu					VPS13C_ENST00000249837.3_Missense_Mutation_p.F2371L|VPS13C_ENST00000395896.4_Missense_Mutation_p.F2414L|VPS13C_ENST00000395898.3_Missense_Mutation_p.F2371L	p.F2414L	NM_020821.2	NP_065872.1	Q709C8	VP13C_HUMAN			57	7315	-			2414						Missense_Mutation	SNP	ENST00000261517.5	37	c.7242T>A	CCDS32257.1	.	.	.	.	.	.	.	.	.	.	A	11.82	1.753105	0.31046	.	.	ENSG00000129003	ENST00000249837;ENST00000261517;ENST00000395896;ENST00000395898	T;T;T	0.41400	1.0;1.0;1.0	5.74	3.44	0.39384	.	0.159391	0.56097	D	0.000025	T	0.34366	0.0895	M	0.73962	2.25	0.47123	D	0.99932	B;B;P;B	0.37985	0.139;0.321;0.613;0.215	B;B;B;B	0.31946	0.089;0.138;0.138;0.101	T	0.17289	-1.0374	10	0.08599	T	0.76	.	8.8737	0.35332	0.7886:0.0:0.2114:0.0	.	2371;2414;2371;2414	Q709C8-4;Q709C8-2;Q709C8-3;Q709C8	.;.;.;VP13C_HUMAN	L	2371;2414;2414;2414	ENSP00000249837:F2371L;ENSP00000261517:F2414L;ENSP00000379233:F2414L	ENSP00000249837:F2371L	F	-	3	2	VPS13C	59999793	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.215000	0.32431	0.450000	0.26774	0.528000	0.53228	TTT		0.373	VPS13C-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000415997.1	NM_017684		4	36	0	0	0	1	0	4	36					T	62212501	A	T	62212501	3	4	228	1	0	0	0	0	1	0	0	0	17188	127	5	5	4163	5	VPS13C	15	62212501	Missense_Mutation	SNP	A	TCGA-HC-8216-01A-11D-A29Q-08	13431852	62212501	40318891	115	10589											
NEO1	4756	broad.mit.edu	37	chr15	73580727	73580727	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccaaagatgtgaaacctccaGatctctggatccatcatgag	13	9	8	11	0	2	4	1	2	1	2	5	5	4	5	4	1	1	0	4	1	2	0			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr15:73580727G>C	ENST00000339362.5	+	25	3931	c.3484G>C	c.(3484-3486)Gat>Cat	p.D1162H	NEO1_ENST00000261908.6_Missense_Mutation_p.D1162H|NEO1_ENST00000558964.1_Missense_Mutation_p.D1151H|NEO1_ENST00000560262.1_Missense_Mutation_p.D1162H			Q92859	NEO1_HUMAN	neogenin 1	1162					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|iron ion homeostasis (GO:0055072)|muscle cell differentiation (GO:0042692)|myoblast fusion (GO:0007520)|positive regulation of muscle cell differentiation (GO:0051149)|regulation of transcription, DNA-templated (GO:0006355)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(9)|lung(26)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	57						GAAACCTCCAGATCTCTGGAT	0.463																																						ENST00000339362.5																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(9)|lung(26)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	57						c.(3484-3486)Gat>Cat		neogenin 1							107	106	106					15																	73580727		2198	4297	6495	SO:0001583	missense	4756				axon guidance|cell adhesion|positive regulation of muscle cell differentiation	Golgi apparatus|integral to plasma membrane|nucleus		g.chr15:73580727G>C	U61262	CCDS10247.1, CCDS53957.1, CCDS58378.1	15q22.3-q23	2014-06-20	2010-06-24		ENSG00000067141	ENSG00000067141		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	7754	protein-coding gene	gene with protein product	"immunoglobulin superfamily, DCC subclass, member 2"	601907	"neogenin (chicken) homolog 1"			9121761	Standard	NM_002499		Approved	NGN, HsT17534, IGDCC2, NTN1R2	uc002avm.4	Q92859	OTTHUMG00000133509	ENST00000339362.5:c.3484G>C	15.37:g.73580727G>C	ENSP00000341198:p.Asp1162His					NEO1_ENST00000558964.1_Missense_Mutation_p.D1151H|NEO1_ENST00000261908.6_Missense_Mutation_p.D1162H|NEO1_ENST00000560262.1_Missense_Mutation_p.D1162H	p.D1162H			Q92859	NEO1_HUMAN			25	3931	+			1162					B7ZKM9|B7ZKN0|O00340|Q17RX1	Missense_Mutation	SNP	ENST00000339362.5	37	c.3484G>C	CCDS10247.1	.	.	.	.	.	.	.	.	.	.	G	26.3	4.724975	0.89298	.	.	ENSG00000067141	ENST00000339362;ENST00000379842;ENST00000261908	T;T	0.70986	-0.53;-0.53	5.52	5.52	0.82312	Neogenin, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.84800	0.5552	M	0.76328	2.33	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	D	0.86078	0.1542	10	0.87932	D	0	-19.7695	19.4327	0.94778	0.0:0.0:1.0:0.0	.	1162;1151;873;1162	B7ZKM9;B7ZKN0;E7EUX3;Q92859	.;.;.;NEO1_HUMAN	H	1162;873;1162	ENSP00000341198:D1162H;ENSP00000261908:D1162H	ENSP00000261908:D1162H	D	+	1	0	NEO1	71367780	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.476000	0.97823	2.594000	0.87642	0.561000	0.74099	GAT		0.463	NEO1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257472.2	NM_002499		7	51	0	0	0	1	0	7	51					C	73580727	G	C	73580727	3	2	228	1	0	0	0	0	1	0	0	0	10336	942	33	5	3578	5	NEO1	15	73580727	Missense_Mutation	SNP	G	TCGA-HC-8216-01A-11D-A29Q-08	11368226	73580727	28950665	116	10590											
PRSS22	64063	broad.mit.edu	37	chr16	2903128	2903128	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cggccccagagccctggctcGgtgccctgagggccccaccc	4	4	13	20	2	0	2	0	1	0	1	1	2	0	2	7	4	2	1	7	4	0	0			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr16:2903128G>T	ENST00000161006.3	-	6	985	c.920C>A	c.(919-921)cCg>cAg	p.P307Q	PRSS22_ENST00000571228.1_Missense_Mutation_p.P197Q|PRSS22_ENST00000574768.1_5'Flank	NM_022119.3	NP_071402.1	Q9GZN4	BSSP4_HUMAN	protease, serine, 22	307						extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)			central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(2)|skin(2)	10						GCCCTGGCTCGGTGCCCTGAG	0.706																																						ENST00000161006.3																			0				central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(2)|skin(2)	10						c.(919-921)cCg>cAg		protease, serine, 22							9	11	10					16																	2903128		2078	4120	6198	SO:0001583	missense	64063				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr16:2903128G>T	AF321182	CCDS10481.1	16p13.3	2010-05-07			ENSG00000005001	ENSG00000005001		"Serine peptidases / Serine peptidases"	14368	protein-coding gene	gene with protein product	"brain-specific serine protease 4"	609343				11602603, 15701722	Standard	XM_005255473		Approved	hBSSP-4, BSSP-4, SP001LA	uc002cry.1	Q9GZN4	OTTHUMG00000128961	ENST00000161006.3:c.920C>A	16.37:g.2903128G>T	ENSP00000161006:p.Pro307Gln					PRSS22_ENST00000571228.1_Missense_Mutation_p.P197Q	p.P307Q	NM_022119.3	NP_071402.1	Q9GZN4	BSSP4_HUMAN			6	985	-			307					O43342|Q6UXE0	Missense_Mutation	SNP	ENST00000161006.3	37	c.920C>A	CCDS10481.1	.	.	.	.	.	.	.	.	.	.	g	8.527	0.870209	0.17322	.	.	ENSG00000005001	ENST00000161006	D	0.87729	-2.29	2.28	-3.73	0.04398	.	1.584960	0.04404	U	0.364813	T	0.68357	0.2992	N	0.08118	0	0.09310	N	1	P	0.38078	0.617	B	0.27500	0.08	T	0.62964	-0.6742	10	0.59425	D	0.04	.	5.1107	0.14808	0.3465:0.1546:0.4989:0.0	.	307	Q9GZN4	BSSP4_HUMAN	Q	307	ENSP00000161006:P307Q	ENSP00000161006:P307Q	P	-	2	0	PRSS22	2843129	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-3.581000	0.00424	-0.908000	0.03857	-1.899000	0.00529	CCG		0.706	PRSS22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250943.1	NM_022119		3	26	1	0	6.4e-05	1	7.17949e-05	3	26					T	2903128	G	T	2903128	3	4	228	1	0	0	0	0	1	0	0	0	12619	1116	39	5	37	5	PRSS22	16	2903128	Missense_Mutation	SNP	G	TCGA-HC-8216-01A-11D-A29Q-08		2903128	87451625	117	10591											
ZNF263	10127	broad.mit.edu	37	chr16	3334135	3334135	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagggtgcaggagctgcatcCggagagcggcgaagaagcgg	10	3	19	9	4	0	2	0	0	0	2	1	5	1	3	1	5	5	3	1	5	2	0			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr16:3334135C>A	ENST00000219069.5	+	1	1193	c.317C>A	c.(316-318)cCg>cAg	p.P106Q	ZNF263_ENST00000573578.1_Missense_Mutation_p.P106Q|ZNF263_ENST00000574253.1_Missense_Mutation_p.P106Q|ZNF263_ENST00000538765.1_Intron	NM_005741.4	NP_005732.2	O14978	ZN263_HUMAN	zinc finger protein 263	106	SCAN box. {ECO:0000255|PROSITE- ProRule:PRU00187}.				negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)|skin(4)|urinary_tract(3)	20						GAGCTGCATCCGGAGAGCGGC	0.562																																						ENST00000219069.5																			0				NS(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)|skin(4)|urinary_tract(3)	20						c.(316-318)cCg>cAg		zinc finger protein 263							75	79	78					16																	3334135		2197	4300	6497	SO:0001583	missense	10127				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr16:3334135C>A	AC004232	CCDS10499.1	16p13.3	2013-01-09			ENSG00000006194	ENSG00000006194		"Zinc fingers, C2H2-type", "-", "-", "-"	13056	protein-coding gene	gene with protein product		604191				9256059	Standard	NM_005741		Approved	FPM315, ZKSCAN12, ZSCAN44	uc002cuq.3	O14978	OTTHUMG00000129323	ENST00000219069.5:c.317C>A	16.37:g.3334135C>A	ENSP00000219069:p.Pro106Gln					ZNF263_ENST00000573578.1_Missense_Mutation_p.P106Q|ZNF263_ENST00000538765.1_Intron|ZNF263_ENST00000574253.1_Missense_Mutation_p.P106Q	p.P106Q	NM_005741.4	NP_005732.2	O14978	ZN263_HUMAN			1	1193	+			106			SCAN box.		B2R634|O43387|Q96H95	Missense_Mutation	SNP	ENST00000219069.5	37	c.317C>A	CCDS10499.1	.	.	.	.	.	.	.	.	.	.	C	16.52	3.146348	0.57044	.	.	ENSG00000006194	ENST00000219069	T	0.08634	3.07	4.96	4.96	0.65561	Retrovirus capsid, C-terminal (1);Transcription regulator SCAN (3);	0.000000	0.53938	D	0.000058	T	0.33702	0.0872	H	0.94264	3.515	0.37070	D	0.898463	P;P	0.47604	0.888;0.898	P;P	0.55545	0.778;0.541	T	0.52041	-0.8628	10	0.87932	D	0	.	13.8993	0.63792	0.0:1.0:0.0:0.0	.	106;106	O14978;D3DUC1	ZN263_HUMAN;.	Q	106	ENSP00000219069:P106Q	ENSP00000219069:P106Q	P	+	2	0	ZNF263	3274136	0.952000	0.32445	0.976000	0.42696	0.999000	0.98932	3.083000	0.50136	2.733000	0.93635	0.655000	0.94253	CCG		0.562	ZNF263-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251463.2			6	95	1	0	3.59834e-05	1	4.08902e-05	6	95					A	3334135	C	A	3334135	3	1	228	1	0	0	0	0	1	0	0	0	17800	652	23	5	319	5	ZNF263	16	3334135	Missense_Mutation	SNP	C	TCGA-HC-8216-01A-11D-A29Q-08	431007	3334135	87020618	118	10592											
OTOA	146183	broad.mit.edu	37	chr16	21690532	21690532	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggatctcatacagtttcaaaGgtaaaatgccctagaggaga	15	9	10	7	0	2	2	2	0	1	2	3	4	2	3	1	3	2	2	1	3	5	4			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr16:21690532G>T	ENST00000286149.4	+	4	180	c.179G>T	c.(178-180)aGc>aTc	p.S60I	OTOA_ENST00000388958.3_Splice_Site_p.S60I			Q7RTW8	OTOAN_HUMAN	otoancorin	60					cell-matrix adhesion (GO:0007160)|sensory perception of sound (GO:0007605)|transmission of nerve impulse (GO:0019226)	anchored component of membrane (GO:0031225)|apical plasma membrane (GO:0016324)|proteinaceous extracellular matrix (GO:0005578)				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)	46				GBM - Glioblastoma multiforme(48;0.0414)		CAGTTTCAAAGGTAAAATGCC	0.343																																						ENST00000388958.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)	46						c.e4+1		otoancorin							95	98	97					16																	21690532		2198	4300	6498	SO:0001630	splice_region_variant	146183				sensory perception of sound	anchored to membrane|apical plasma membrane|proteinaceous extracellular matrix		g.chr16:21690532G>T	AK057335	CCDS10600.2, CCDS32403.1, CCDS53994.1	16p12.2	2009-08-18	2002-07-05		ENSG00000155719	ENSG00000155719			16378	protein-coding gene	gene with protein product	"cancer/testis antigen 108"	607038	"deafness, autosomal recessive 22"	DFNB22		11972037, 19088187	Standard	NM_170664		Approved	CT108	uc002djh.3	Q7RTW8	OTTHUMG00000090721	ENST00000286149.4:c.179+1G>T	16.37:g.21690532G>T						OTOA_ENST00000286149.4_Splice_Site_p.S60_splice	p.S60_splice	NM_144672.3	NP_653273.3	Q7RTW8	OTOAN_HUMAN		GBM - Glioblastoma multiforme(48;0.0414)	4	180	+			60					A1L3A8|A2VDI0|B3KWU3|E9PF51|Q8NA86|Q96M76	Splice_Site	SNP	ENST00000286149.4	37	c.179_splice		.	.	.	.	.	.	.	.	.	.	G	21.6	4.180185	0.78564	.	.	ENSG00000155719	ENST00000388958;ENST00000286149	T;T	0.68765	-0.35;-0.34	5.99	5.99	0.97316	.	0.262435	0.39274	N	0.001416	T	0.72486	0.3466	L	0.59436	1.845	0.80722	D	1	P	0.50617	0.937	P	0.50754	0.649	T	0.74654	-0.3593	10	0.72032	D	0.01	-0.6554	16.0274	0.80553	0.0:0.0:1.0:0.0	.	60	E9PF51	.	I	60	ENSP00000373610:S60I;ENSP00000286149:S60I	ENSP00000286149:S60I	S	+	2	0	OTOA	21598033	1.000000	0.71417	1.000000	0.80357	0.824000	0.46624	5.862000	0.69560	2.846000	0.97976	0.644000	0.83932	AGC		0.343	OTOA-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000430021.1		Missense_Mutation	6	55	1	0	0.0293803	1	0.0300676	6	55					T	21690532	G	T	21690532	5	4	228	1	0	0	0	0	0	0	1	0	11302	1014	35	5	193	5	OTOA	16	21690532	Splice_Site	SNP	G	TCGA-HC-8216-01A-11D-A29Q-08	18356397	21690532	68664221	119	10593											
SALL1	6299	broad.mit.edu	37	chr16	51173806	51173806	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgcaggaccacagcgttcGtgaacttcttctggcagatg	8	10	12	11	2	2	2	0	1	2	1	3	3	2	3	1	2	3	4	1	2	1	3			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr16:51173806G>A	ENST00000251020.4	-	2	2360	c.2327C>T	c.(2326-2328)aCg>aTg	p.T776M	SALL1_ENST00000566102.1_Intron|SALL1_ENST00000440970.1_Missense_Mutation_p.T679M|SALL1_ENST00000541611.1_Intron	NM_002968.2	NP_002959.2	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	776					adrenal gland development (GO:0030325)|branching involved in ureteric bud morphogenesis (GO:0001658)|embryonic digestive tract development (GO:0048566)|embryonic digit morphogenesis (GO:0042733)|forelimb morphogenesis (GO:0035136)|gonad development (GO:0008406)|heart development (GO:0007507)|hindlimb morphogenesis (GO:0035137)|histone deacetylation (GO:0016575)|inductive cell-cell signaling (GO:0031129)|kidney development (GO:0001822)|kidney epithelium development (GO:0072073)|limb development (GO:0060173)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|olfactory bulb interneuron differentiation (GO:0021889)|olfactory bulb mitral cell layer development (GO:0061034)|olfactory nerve development (GO:0021553)|outer ear morphogenesis (GO:0042473)|pituitary gland development (GO:0021983)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of neural precursor cell proliferation (GO:2000177)|transcription, DNA-templated (GO:0006351)|ureteric bud development (GO:0001657)|ureteric bud invasion (GO:0072092)|ventricular septum development (GO:0003281)	chromocenter (GO:0010369)|cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			CACAGCGTTCGTGAACTTCTT	0.557																																					GBM(103;1352 1446 1855 4775 8890)	ENST00000440970.1																			0				NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126						c.(2035-2037)aCg>aTg		spalt-like transcription factor 1							89	93	91					16																	51173806		2198	4300	6498	SO:0001583	missense	6299				adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr16:51173806G>A	X98833	CCDS10747.1, CCDS45483.1	16q12.1	2014-09-17	2013-10-17		ENSG00000103449	ENSG00000103449		"Zinc fingers, C2H2-type"	10524	protein-coding gene	gene with protein product		602218	"sal (Drosophila)-like 1", "sal-like 1 (Drosophila)"	TBS		9425907	Standard	NM_002968		Approved	Hsal1, ZNF794	uc021tie.1	Q9NSC2	OTTHUMG00000133176	ENST00000251020.4:c.2327C>T	16.37:g.51173806G>A	ENSP00000251020:p.Thr776Met					SALL1_ENST00000566102.1_Intron|SALL1_ENST00000541611.1_Intron|SALL1_ENST00000251020.4_Missense_Mutation_p.T776M	p.T679M	NM_001127892.1	NP_001121364.1	Q9NSC2	SALL1_HUMAN	COAD - Colon adenocarcinoma(2;0.24)		2	2467	-		all_cancers(37;0.0322)	776					Q99881|Q9NSC3|Q9P1R0	Missense_Mutation	SNP	ENST00000251020.4	37	c.2036C>T	CCDS10747.1	.	.	.	.	.	.	.	.	.	.	G	19.04	3.750290	0.69533	.	.	ENSG00000103449	ENST00000251020;ENST00000440970;ENST00000457559	T;T	0.79554	-1.28;-1.28	5.2	5.2	0.72013	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	D	0.85141	0.5629	L	0.31578	0.945	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.87023	0.2130	10	0.72032	D	0.01	.	18.7936	0.91985	0.0:0.0:1.0:0.0	.	776	Q9NSC2	SALL1_HUMAN	M	776;679;740	ENSP00000251020:T776M;ENSP00000407914:T679M	ENSP00000251020:T776M	T	-	2	0	SALL1	49731307	1.000000	0.71417	0.967000	0.41034	0.979000	0.70002	9.869000	0.99810	2.441000	0.82636	0.298000	0.19748	ACG		0.557	SALL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256883.2	NM_002968		12	73	0	0	0	1	0	12	73					A	51173806	G	A	51173806	3	1	228	1	0	0	0	0	1	0	0	0	13810	1145	40	1	1655	1	SALL1	16	51173806	Missense_Mutation	SNP	G	TCGA-HC-8216-01A-11D-A29Q-08	29483274	51173806	39180947	120	10594											
TP53	7157	broad.mit.edu	37	chr17	7578509	7578509	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacccacagctgcacagggcAggtcttggccagttggcaaa	11	6	12	12	0	1	0	0	0	1	0	1	0	1	0	2	4	3	5	2	4	2	2			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr17:7578509A>C	ENST00000269305.4	-	5	610	c.421T>G	c.(421-423)Tgc>Ggc	p.C141G	TP53_ENST00000455263.2_Missense_Mutation_p.C141G|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000445888.2_Missense_Mutation_p.C141G|TP53_ENST00000359597.4_Missense_Mutation_p.C141G|TP53_ENST00000413465.2_Missense_Mutation_p.C141G|TP53_ENST00000420246.2_Missense_Mutation_p.C141G	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	141	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		C -> A (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|C -> F (in sporadic cancers; somatic mutation).|C -> G (in sporadic cancers; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in LFS; germline mutation and in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.C141R(13)|p.0?(8)|p.A138_P142delAKTCP(4)|p.N131fs*27(2)|p.C141S(2)|p.C141fs*8(2)|p.L137_W146del10(1)|p.K139fs*4(1)|p.A45_P49delAKTCP(1)|p.C141fs*34(1)|p.C141fs*30(1)|p.C9R(1)|p.A6_P10delAKTCP(1)|p.A138_V143delAKTCPV(1)|p.C48R(1)|p.C141fs*29(1)|p.C141A(1)|p.C141G(1)|p.K139_C141>N(1)|p.K139fs*29(1)|p.T140fs*28(1)|p.C141fs*5(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	TGCACAGGGCAGGTCTTGGCC	0.567		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"Mis, N, F"	tumor protein p53			"L, E, M, O"		"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"	"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"		47	Substitution - Missense(19)|Deletion - In frame(8)|Whole gene deletion(8)|Deletion - Frameshift(6)|Insertion - Frameshift(4)|Complex - frameshift(1)|Complex - deletion inframe(1)	p.C141R(13)|p.0?(8)|p.A138_P142delAKTCP(4)|p.N131fs*27(2)|p.C141S(2)|p.C141fs*8(2)|p.L137_W146del10(1)|p.K139fs*4(1)|p.A45_P49delAKTCP(1)|p.C141fs*34(1)|p.C141fs*30(1)|p.C9R(1)|p.A6_P10delAKTCP(1)|p.A138_V143delAKTCPV(1)|p.C48R(1)|p.C141fs*29(1)|p.C141A(1)|p.C141G(1)|p.K139_C141>N(1)|p.K139fs*29(1)|p.T140fs*28(1)|p.C141fs*5(1)	ovary(11)|large_intestine(7)|breast(7)|central_nervous_system(5)|bone(4)|upper_aerodigestive_tract(2)|stomach(2)|haematopoietic_and_lymphoid_tissue(2)|urinary_tract(2)|prostate(2)|biliary_tract(1)|lung(1)|oesophagus(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185						c.(421-423)Tgc>Ggc	Other conserved DNA damage response genes	tumor protein p53							56	55	56					17																	7578509		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578509A>C	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"Li-Fraumeni syndrome"	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.421T>G	17.37:g.7578509A>C	ENSP00000269305:p.Cys141Gly	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_ENST00000269305.4_Missense_Mutation_p.C141G|TP53_ENST00000413465.2_Missense_Mutation_p.C141G|TP53_ENST00000359597.4_Missense_Mutation_p.C141G|TP53_ENST00000455263.2_Missense_Mutation_p.C141G|TP53_ENST00000445888.2_Missense_Mutation_p.C141G	p.C141G	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	5	553	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	141		C -> A (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|C -> F (in sporadic cancers; somatic mutation).|C -> G (in sporadic cancers; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in LFS; germline mutation and in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.421T>G	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	A	13.47	2.246323	0.39697	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315;ENST00000508793	D;D;D;D;D;D;D;D;D	0.99814	-6.89;-6.89;-6.89;-6.89;-6.89;-6.89;-6.89;-6.89;-6.89	5.48	4.41	0.53225	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.046412	0.85682	D	0.000000	D	0.99746	0.9899	M	0.90309	3.105	0.58432	D	0.999991	D;D;D;D;D;D;D	0.89917	1.0;0.997;0.997;1.0;0.998;1.0;1.0	D;D;D;D;D;D;D	0.97110	1.0;0.992;0.99;1.0;0.996;1.0;1.0	D	0.97919	1.0313	10	0.87932	D	0	-26.1094	9.8103	0.40820	0.918:0.0:0.082:0.0	.	102;141;141;48;141;141;141	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	G	141;141;141;141;141;141;130;48;9;48;9;141	ENSP00000410739:C141G;ENSP00000352610:C141G;ENSP00000269305:C141G;ENSP00000398846:C141G;ENSP00000391127:C141G;ENSP00000391478:C141G;ENSP00000425104:C9G;ENSP00000423862:C48G;ENSP00000424104:C141G	ENSP00000269305:C141G	C	-	1	0	TP53	7519234	1.000000	0.71417	0.996000	0.52242	0.026000	0.11368	5.164000	0.64954	1.020000	0.39573	-0.256000	0.11100	TGC		0.567	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		13	31	0	0	0	1	0	13	31					C	7578509	A	C	7578509	3	2	228	1	0	0	0	0	1	0	0	0	16378	188	7	5	877	5	TP53	17	7578509	Missense_Mutation	SNP	A	TCGA-HC-8216-01A-11D-A29Q-08		7578509	73616701	121	10595											
MYH13	8735	broad.mit.edu	37	chr17	10248872	10248872	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgctggttgatgcgggtgAccatccacaggaacatcttc	8	10	12	11	1	1	2	0	2	1	0	3	3	2	3	2	3	3	3	2	3	1	2			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr17:10248872A>T	ENST00000418404.3	-	13	1488	c.1325T>A	c.(1324-1326)gTc>gAc	p.V442D	MYH13_ENST00000252172.4_Missense_Mutation_p.V442D			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	442	Myosin motor.				cellular response to starvation (GO:0009267)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)	extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						GATGCGGGTGACCATCCACAG	0.522																																						ENST00000418404.3																			0				breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						c.(1324-1326)gTc>gAc		myosin, heavy chain 13, skeletal muscle							175	164	168					17																	10248872		2203	4297	6500	SO:0001583	missense	8735				muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr17:10248872A>T	AF075248	CCDS45613.1	17p13	2011-09-27	2006-09-29			ENSG00000006788		"Myosins / Myosin superfamily : Class II"	7571	protein-coding gene	gene with protein product	"extraocular muscle myosin heavy chain", "extraocular myosin heavy chain"	603487	"myosin, heavy polypeptide 13, skeletal muscle"			9806854	Standard	NM_003802		Approved	MyHC-eo	uc002gmk.1	Q9UKX3		ENST00000418404.3:c.1325T>A	17.37:g.10248872A>T	ENSP00000404570:p.Val442Asp					MYH13_ENST00000570743.1_Missense_Mutation_p.V442D|MYH13_ENST00000252172.4_Missense_Mutation_p.V442D	p.V442D			Q9UKX3	MYH13_HUMAN			13	1488	-			442			Myosin head-like.		O95252|Q9P0U8	Missense_Mutation	SNP	ENST00000418404.3	37	c.1325T>A	CCDS45613.1	.	.	.	.	.	.	.	.	.	.	A	23.5	4.426405	0.83667	.	.	ENSG00000006788	ENST00000252172;ENST00000418404	D	0.92149	-2.98	4.33	4.33	0.51752	Myosin head, motor domain (2);	.	.	.	.	D	0.98191	0.9402	H	0.99969	5.11	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98669	1.0687	9	0.87932	D	0	.	13.9543	0.64137	1.0:0.0:0.0:0.0	.	442	Q9UKX3	MYH13_HUMAN	D	442;117	ENSP00000252172:V442D	ENSP00000252172:V442D	V	-	2	0	MYH13	10189597	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.945000	0.92985	1.946000	0.56461	0.459000	0.35465	GTC		0.522	MYH13-003	KNOWN	alternative_3_UTR|alternative_5_UTR|NMD_exception|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442255.1	NM_003802		10	135	0	0	0	1	0	10	135					T	10248872	A	T	10248872	3	4	228	1	0	0	0	0	1	0	0	0	10032	275	10	5	4603	5	MYH13	17	10248872	Missense_Mutation	SNP	A	TCGA-HC-8216-01A-11D-A29Q-08	2670363	10248872	70946338	122	10596											
TOP3A	7156	broad.mit.edu	37	chr17	18205596	18205596	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acctttaattctgtggaagaTttctggtacaaaagcctgaa	13	13	8	7	0	2	2	0	1	2	1	2	3	2	3	2	2	2	1	2	2	6	5			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr17:18205596T>C	ENST00000321105.5	-	7	1010	c.796A>G	c.(796-798)Atc>Gtc	p.I266V	TOP3A_ENST00000540524.1_5'Flank|TOP3A_ENST00000542570.1_Missense_Mutation_p.I171V	NM_004618.3	NP_004609.1	Q13472	TOP3A_HUMAN	topoisomerase (DNA) III alpha	266					DNA topological change (GO:0006265)|meiotic nuclear division (GO:0007126)	chromosome (GO:0005694)|nucleus (GO:0005634)|PML body (GO:0016605)	DNA binding (GO:0003677)|DNA topoisomerase type I activity (GO:0003917)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)|skin(6)|stomach(2)|urinary_tract(1)	36						CTGTGGAAGATTTCTGGTACA	0.527																																						ENST00000321105.5																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)|skin(6)|stomach(2)|urinary_tract(1)	36						c.(796-798)Atc>Gtc		topoisomerase (DNA) III alpha							41	45	43					17																	18205596		2203	4300	6503	SO:0001583	missense	7156				DNA topological change|meiosis	chromosome|PML body	ATP binding|DNA topoisomerase type I activity|protein binding|zinc ion binding	g.chr17:18205596T>C	U43431	CCDS11194.1	17p12-p11.2	2014-02-18			ENSG00000177302	ENSG00000177302			11992	protein-coding gene	gene with protein product	"zinc finger, GRF-type containing 7"	601243		TOP3		9450867	Standard	NM_004618		Approved	ZGRF7	uc002gsx.1	Q13472	OTTHUMG00000059391	ENST00000321105.5:c.796A>G	17.37:g.18205596T>C	ENSP00000321636:p.Ile266Val					TOP3A_ENST00000542570.1_Missense_Mutation_p.I171V	p.I266V	NM_004618.3	NP_004609.1	Q13472	TOP3A_HUMAN			7	1010	-			266					A8KA61|B4DK80|D3DXC7|Q13473	Missense_Mutation	SNP	ENST00000321105.5	37	c.796A>G	CCDS11194.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	6.576|6.576	0.474657|0.474657	0.12521|0.12521	.|.	.|.	ENSG00000177302|ENSG00000177302	ENST00000321105;ENST00000542570|ENST00000412083	T;T|.	0.21543|.	2.0;2.0|.	6.07|6.07	-2.17|-2.17	0.07059|0.07059	DNA topoisomerase, type IA, core domain (1);DNA topoisomerase, type IA, central (1);DNA topoisomerase, type IA, domain 2 (1);|.	0.710089|.	0.14661|.	N|.	0.305982|.	T|T	0.47021|0.47021	0.1423|0.1423	L|L	0.34521|0.34521	1.04|1.04	0.58432|0.58432	D|D	0.999995|0.999995	B;B|.	0.02656|.	0.0;0.0|.	B;B|.	0.06405|.	0.002;0.002|.	T|T	0.27905|0.27905	-1.0060|-1.0060	10|5	0.27082|.	T|.	0.32|.	-1.8031|-1.8031	9.2393|9.2393	0.37486|0.37486	0.0:0.4798:0.1128:0.4074|0.0:0.4798:0.1128:0.4074	.|.	171;266|.	B4DK80;Q13472|.	.;TOP3A_HUMAN|.	V|S	266;171|245	ENSP00000321636:I266V;ENSP00000442336:I171V|.	ENSP00000321636:I266V|.	I|N	-|-	1|2	0|0	TOP3A|TOP3A	18146321|18146321	0.998000|0.998000	0.40836|0.40836	0.114000|0.114000	0.21550|0.21550	0.316000|0.316000	0.28119|0.28119	0.538000|0.538000	0.23160|0.23160	-0.710000|-0.710000	0.05001|0.05001	-0.256000|-0.256000	0.11100|0.11100	ATC|AAT		0.527	TOP3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132052.2			10	41	0	0	0	1	0	10	41					C	18205596	T	C	18205596	3	2	228	1	0	0	0	0	1	0	0	0	16364	1493	52	4	2261	4	TOP3A	17	18205596	Missense_Mutation	SNP	T	TCGA-HC-8216-01A-11D-A29Q-08	7956724	18205596	62989614	123	10597											
LIG3	3980	broad.mit.edu	37	chr17	33324773	33324773	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcagacctctgtgtgagcggCggaagtttcttcatgacaac	9	11	11	10	2	4	3	2	2	2	1	4	4	4	4	1	2	2	1	1	2	2	2			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr17:33324773C>T	ENST00000378526.4	+	12	1973	c.1840C>T	c.(1840-1842)Cgg>Tgg	p.R614W	LIG3_ENST00000262327.5_Missense_Mutation_p.R614W	NM_013975.3	NP_039269.2	P49916	DNLI3_HUMAN	ligase III, DNA, ATP-dependent	614					base-excision repair (GO:0006284)|base-excision repair, DNA ligation (GO:0006288)|DNA biosynthetic process (GO:0071897)|DNA repair (GO:0006281)|double-strand break repair via nonhomologous end joining (GO:0006303)|lagging strand elongation (GO:0006273)|mitochondrial DNA repair (GO:0043504)|negative regulation of DNA recombination (GO:0045910)|nucleotide-excision repair (GO:0006289)|reciprocal meiotic recombination (GO:0007131)|spermatogenesis (GO:0007283)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA ligase (ATP) activity (GO:0003910)|DNA ligase activity (GO:0003909)|zinc ion binding (GO:0008270)			endometrium(4)|large_intestine(8)|lung(9)|ovary(3)|pancreas(2)|prostate(1)|skin(3)|stomach(1)	31		Ovarian(249;0.17)			Bleomycin(DB00290)	GTGTGAGCGGCGGAAGTTTCT	0.488								Other BER factors																														ENST00000378526.4																			0				endometrium(4)|large_intestine(8)|lung(9)|ovary(3)|pancreas(2)|prostate(1)|skin(3)|stomach(1)	31						c.(1840-1842)Cgg>Tgg	Other BER factors	ligase III, DNA, ATP-dependent	Bleomycin(DB00290)						98	86	90					17																	33324773		2203	4300	6503	SO:0001583	missense	3980				base-excision repair|cell division|DNA ligation involved in DNA repair|DNA replication|reciprocal meiotic recombination|spermatogenesis	nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|protein binding|zinc ion binding	g.chr17:33324773C>T		CCDS11284.2, CCDS11285.2	17q11.2-q12	2008-10-29			ENSG00000005156	ENSG00000005156			6600	protein-coding gene	gene with protein product		600940	"ligase II, DNA, ATP-dependent"	LIG2		7760816	Standard	NM_002311		Approved		uc002hik.2	P49916	OTTHUMG00000128519	ENST00000378526.4:c.1840C>T	17.37:g.33324773C>T	ENSP00000367787:p.Arg614Trp					LIG3_ENST00000262327.5_Missense_Mutation_p.R614W	p.R614W	NM_013975.3	NP_039269.2	P49916	DNLI3_HUMAN			12	1973	+		Ovarian(249;0.17)	614					Q16714|Q6NVK3	Missense_Mutation	SNP	ENST00000378526.4	37	c.1840C>T	CCDS11284.2	.	.	.	.	.	.	.	.	.	.	C	24.2	4.506929	0.85282	.	.	ENSG00000005156	ENST00000378526;ENST00000262327	D;D	0.86497	-2.13;-2.13	5.91	4.93	0.64822	DNA ligase, ATP-dependent, central (2);	0.000000	0.85682	D	0.000000	D	0.94905	0.8353	M	0.93016	3.37	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.95998	0.8991	10	0.87932	D	0	-17.6091	15.4132	0.74943	0.14:0.86:0.0:0.0	.	614;614	P49916;E5KLB6	DNLI3_HUMAN;.	W	614	ENSP00000367787:R614W;ENSP00000262327:R614W	ENSP00000262327:R614W	R	+	1	2	LIG3	30348886	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.008000	0.63991	1.469000	0.48083	0.655000	0.94253	CGG		0.488	LIG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250330.3	NM_013975		6	62	0	0	0	1	0	6	62					T	33324773	C	T	33324773	3	4	228	1	0	0	0	0	1	0	0	0	8782	759	27	1	1882	1	LIG3	17	33324773	Missense_Mutation	SNP	C	TCGA-HC-8216-01A-11D-A29Q-08	15119177	33324773	47870437	124	10598											
GSDMB	55876	broad.mit.edu	37	chr17	38062397	38062397	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctgccgaatatcctccttGccgaggcacttagcgaggga	8	9	11	13	3	0	0	0	0	0	0	3	4	3	1	5	2	3	1	5	2	3	3			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr17:38062397G>A	ENST00000394179.1	-	7	970	c.840C>T	c.(838-840)ggC>ggT	p.G280G	GSDMB_ENST00000394175.2_Silent_p.G263G|GSDMB_ENST00000360317.3_Silent_p.G285G|GSDMB_ENST00000309481.7_Silent_p.G272G|GSDMB_ENST00000520542.1_Silent_p.G276G|GSDMB_ENST00000418519.1_Silent_p.G285G			Q8TAX9	GSDMB_HUMAN	gasdermin B	280						cytoplasm (GO:0005737)				breast(2)|endometrium(3)|large_intestine(6)|lung(6)|pancreas(1)|prostate(1)|stomach(2)	21						TATCCTCCTTGCCGAGGCACT	0.517																																						ENST00000394175.2																			0				breast(2)|endometrium(3)|large_intestine(6)|lung(6)|pancreas(1)|prostate(1)|stomach(2)	21						c.(787-789)ggC>ggT		gasdermin B							170	138	149					17																	38062397		2203	4300	6503	SO:0001819	synonymous_variant	55876					cytoplasm		g.chr17:38062397G>A	AF119884	CCDS11354.1, CCDS42313.1, CCDS54119.1, CCDS54120.1	17q21.2	2008-07-31	2008-07-31	2008-07-31	ENSG00000073605	ENSG00000073605			23690	protein-coding gene	gene with protein product		611221	"gasdermin-like"	GSDML		12883658, 15010812, 17350798	Standard	NM_001042471		Approved	PRO2521	uc010cwj.3	Q8TAX9	OTTHUMG00000133248	ENST00000394179.1:c.840C>T	17.37:g.38062397G>A						GSDMB_ENST00000309481.7_Silent_p.G272G|GSDMB_ENST00000360317.3_Silent_p.G285G|GSDMB_ENST00000418519.1_Silent_p.G285G|GSDMB_ENST00000394179.1_Silent_p.G280G|GSDMB_ENST00000520542.1_Silent_p.G276G	p.G263G	NM_018530.2	NP_061000.2	Q8TAX9	GSDMB_HUMAN			5	1012	-			280					B4DKK7|Q7Z377|Q8WY76|Q9NX71|Q9P163	Silent	SNP	ENST00000394179.1	37	c.789C>T		.	.	.	.	.	.	.	.	.	.	G	3.463	-0.109607	0.06924	.	.	ENSG00000073605	ENST00000420491	.	.	.	4.54	0.757	0.18427	.	.	.	.	.	T	0.21962	0.0529	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.21861	-1.0233	4	.	.	.	.	2.8555	0.05571	0.2797:0.0:0.5122:0.2082	.	.	.	.	V	217	.	.	A	-	2	0	GSDMB	35315923	0.000000	0.05858	0.001000	0.08648	0.007000	0.05969	-0.213000	0.09305	0.461000	0.27071	0.609000	0.83330	GCA		0.517	GSDMB-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_018530		10	73	0	0	0	1	0	10	73					A	38062397	G	A	38062397	2	1	228	1	0	0	0	0	0	0	0	1	6817	1306	46	3		3	GSDMB	17	38062397	Silent	SNP	G	TCGA-HC-8216-01A-11D-A29Q-08	4737624	38062397	43132813	125	10599											
KRT23	25984	broad.mit.edu	37	chr17	39084808	39084808	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	atcttccctgggacctgtatCcaccttcacattgacattga	9	13	6	13	0	2	2	1	2	1	0	4	3	4	3	4	1	0	1	4	1	1	5			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr17:39084808C>T	ENST00000209718.3	-	5	1112	c.688G>A	c.(688-690)Gat>Aat	p.D230N	AC004231.2_ENST00000418393.1_RNA|KRT23_ENST00000436344.3_Missense_Mutation_p.D93N	NM_015515.3	NP_056330.3	Q9C075	K1C23_HUMAN	keratin 23 (histone deacetylase inducible)	230	Linker 12.|Rod.					intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21		Breast(137;0.000301)|Ovarian(249;0.15)				GGACCTGTATCCACCTTCACA	0.408																																						ENST00000209718.3																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21						c.(688-690)Gat>Aat		keratin 23 (histone deacetylase inducible)							185	175	179					17																	39084808		2203	4300	6503	SO:0001583	missense	25984					intermediate filament	structural molecule activity	g.chr17:39084808C>T	AF102848	CCDS11380.1, CCDS62182.1	17q21.2	2013-01-16			ENSG00000108244	ENSG00000108244		"-", "Intermediate filaments type I, keratins (acidic)"	6438	protein-coding gene	gene with protein product		606194				11135429, 16831889	Standard	NM_015515		Approved	K23, DKFZP434G032, HAIK1, CK23, MGC26158	uc002hvm.1	Q9C075	OTTHUMG00000133376	ENST00000209718.3:c.688G>A	17.37:g.39084808C>T	ENSP00000209718:p.Asp230Asn					KRT23_ENST00000436344.3_Missense_Mutation_p.D93N|AC004231.2_ENST00000418393.1_RNA	p.D230N	NM_015515.3	NP_056330.3	Q9C075	K1C23_HUMAN			5	1112	-		Breast(137;0.000301)|Ovarian(249;0.15)	230			Linker 12.|Rod.		A8K084|B7Z7J2|I3L3Q6|Q9NUR6	Missense_Mutation	SNP	ENST00000209718.3	37	c.688G>A	CCDS11380.1	.	.	.	.	.	.	.	.	.	.	C	9.072	0.997092	0.19043	.	.	ENSG00000108244	ENST00000209718;ENST00000436344	D;D	0.90197	-2.63;-2.63	5.5	-1.98	0.07480	Filament (1);	0.510250	0.17710	N	0.164625	T	0.81631	0.4863	N	0.25825	0.765	0.47862	D	0.999533	B	0.15719	0.014	B	0.17722	0.019	T	0.66316	-0.5954	10	0.37606	T	0.19	.	10.2881	0.43579	0.0:0.3755:0.0:0.6245	.	230	Q9C075	K1C23_HUMAN	N	230;93	ENSP00000209718:D230N;ENSP00000414056:D93N	ENSP00000209718:D230N	D	-	1	0	KRT23	36338334	1.000000	0.71417	0.141000	0.22245	0.166000	0.22503	1.419000	0.34793	-0.159000	0.11021	-0.123000	0.14984	GAT		0.408	KRT23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257223.1			19	157	0	0	0	1	0	19	157					T	39084808	C	T	39084808	3	4	228	1	0	0	0	0	1	0	0	0	8460	855	30	3	600	3	KRT23	17	39084808	Missense_Mutation	SNP	C	TCGA-HC-8216-01A-11D-A29Q-08	1022411	39084808	42110402	126	10600											
RND2	8153	broad.mit.edu	37	chr17	41177403	41177403	+	Frame_Shift_Del	DEL	G	G	-																															cgctgcaagatcgtggtggtGggagacgcagagtgcggcaa																										TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr17:41177403delG	ENST00000587250.2	+	1	146	c.39delG	c.(37-39)gtgfs	p.V13fs	RND2_ENST00000544533.1_Frame_Shift_Del_p.V13fs|VAT1_ENST00000355653.3_5'Flank			P52198	RND2_HUMAN	Rho family GTPase 2	13					GTP catabolic process (GO:0006184)|positive regulation of collateral sprouting (GO:0048672)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			large_intestine(1)|skin(1)	2		Breast(137;0.000717)		BRCA - Breast invasive adenocarcinoma(366;0.156)		TCGTGGTGGTGGGAGACGCAG	0.731																																						ENST00000544533.1																			0				large_intestine(1)|skin(1)	2						c.(37-39)gtfs		Rho family GTPase 2							20	15	16					17																	41177403		2067	4108	6175	SO:0001589	frameshift_variant	8153				small GTPase mediated signal transduction	acrosomal membrane	GTP binding|GTPase activity	g.chr17:41177403delG	X95456	CCDS11452.1	17q21.31	2012-10-02	2005-01-24	2005-01-24	ENSG00000108830	ENSG00000108830			18315	protein-coding gene	gene with protein product		601555	"ras homolog gene family, member N"	ARHN			Standard	XM_005257706		Approved	Rho7, RhoN	uc002icn.3	P52198	OTTHUMG00000180817	ENST00000587250.2:c.39delG	17.37:g.41177403delG	ENSP00000466680:p.Val13fs					RND2_ENST00000587250.2_Frame_Shift_Del_p.V13fs	p.V13fs	NM_005440.4	NP_005431.1	P52198	RND2_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.156)	1	146	+		Breast(137;0.000717)	13					A8K2D4|O00690|O00734|Q5U0P6|Q99535	Frame_Shift_Del	DEL	ENST00000587250.2	37	c.39delG	CCDS11452.1																																																																																				0.731	RND2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000453111.2	NM_005440		2	4						2	4	---	---	---	---	-	41177403	G	-	41177403	7	5	228	1	0	1	0	1	0	0	0	0	13420	1335	47	0	41	0	RND2	17	41177403	Frame_Shift_Del	DEL	G	TCGA-HC-8216-01A-11D-A29Q-08	2092595	41177403	40017807	127	10601											
MKS1	54903	broad.mit.edu	37	chr17	56285908	56285908	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tggtggtgcaggtctgtgttActcctgagagctgctggaat	6	13	15	7	0	1	1	0	1	1	1	2	3	2	2	1	4	4	4	1	4	2	1			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr17:56285908A>C	ENST00000393119.2	-	12	1135	c.1061T>G	c.(1060-1062)gTa>gGa	p.V354G	MKS1_ENST00000546108.1_Missense_Mutation_p.V151G|MKS1_ENST00000537529.2_Missense_Mutation_p.V344G|MKS1_ENST00000313863.6_Missense_Mutation_p.V354G|MKS1_ENST00000337050.7_Missense_Mutation_p.V354G	NM_017777.3	NP_060247.2	Q9NXB0	MKS1_HUMAN	Meckel syndrome, type 1	354	B9. {ECO:0000255|PROSITE- ProRule:PRU00713}.				branching morphogenesis of an epithelial tube (GO:0048754)|cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|membrane (GO:0016020)|TCTN-B9D complex (GO:0036038)				endometrium(5)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	26						GGTCTGTGTTACTCCTGAGAG	0.498																																						ENST00000393119.2																			0				endometrium(5)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	26						c.(1060-1062)gTa>gGa		Meckel syndrome, type 1							93	93	93					17																	56285908		1953	4153	6106	SO:0001583	missense	54903				cilium assembly	centrosome|cilium|microtubule basal body	protein binding	g.chr17:56285908A>C	DQ185029	CCDS11603.2, CCDS54148.1	17q21-q24	2014-09-17			ENSG00000011143	ENSG00000011143			7121	protein-coding gene	gene with protein product	"POC12 centriolar protein homolog (Chlamydomonas)"	609883		MKS		7550354, 16415886, 18327255	Standard	NM_017777		Approved	FLJ20345, POC12, BBS13	uc002ivr.2	Q9NXB0	OTTHUMG00000133714	ENST00000393119.2:c.1061T>G	17.37:g.56285908A>C	ENSP00000376827:p.Val354Gly					MKS1_ENST00000546108.1_Missense_Mutation_p.V151G|MKS1_ENST00000313863.6_Missense_Mutation_p.V354G|MKS1_ENST00000337050.7_Missense_Mutation_p.V354G|MKS1_ENST00000537529.2_Missense_Mutation_p.V344G	p.V354G	NM_017777.3	NP_060247.2	Q9NXB0	MKS1_HUMAN			12	1135	-			354			B9.		B7WNX4|F5H885|Q284T0|Q96G13	Missense_Mutation	SNP	ENST00000393119.2	37	c.1061T>G	CCDS11603.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	20.8|20.8	4.043663|4.043663	0.75732|0.75732	.|.	.|.	ENSG00000011143|ENSG00000011143	ENST00000537529;ENST00000393120;ENST00000393119;ENST00000337050;ENST00000546108|ENST00000313863	T;T;T;T|.	0.71461|.	-0.57;-0.57;-0.57;-0.57|.	5.58|5.58	4.5|4.5	0.54988|0.54988	.|.	0.404553|.	0.28230|.	N|.	0.016105|.	T|.	0.72244|.	0.3436|.	M|M	0.79475|0.79475	2.455|2.455	0.80722|0.80722	D|D	1|1	D;B|.	0.67145|.	0.996;0.445|.	D;P|.	0.67382|.	0.951;0.703|.	T|.	0.71771|.	-0.4492|.	10|.	0.87932|.	D|.	0|.	-7.8|-7.8	10.5677|10.5677	0.45181|0.45181	0.9236:0.0:0.0764:0.0|0.9236:0.0:0.0764:0.0	.|.	354;354|.	A8MPP8;Q9NXB0|.	.;MKS1_HUMAN|.	G|E	344;354;354;354;151|355	ENSP00000442096:V344G;ENSP00000376827:V354G;ENSP00000338407:V354G;ENSP00000443012:V151G|.	ENSP00000338407:V354G|.	V|X	-|-	2|1	0|0	MKS1|MKS1	53640907|53640907	1.000000|1.000000	0.71417|0.71417	0.996000|0.996000	0.52242|0.52242	0.919000|0.919000	0.55068|0.55068	8.535000|8.535000	0.90623|0.90623	0.936000|0.936000	0.37367|0.37367	0.454000|0.454000	0.30748|0.30748	GTA|TAA		0.498	MKS1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258015.2	NM_017777		19	35	0	0	0	1	0	19	35					C	56285908	A	C	56285908	3	2	228	1	0	0	0	0	1	0	0	0	9609	391	14	5	646	5	MKS1	17	56285908	Missense_Mutation	SNP	A	TCGA-HC-8216-01A-11D-A29Q-08	15108505	56285908	24909302	128	10602											
PIK3C3	5289	broad.mit.edu	37	chr18	39607410	39607410	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcaaactatttttaaggtaTgtgatagtggaatgtgaaga	14	14	10	3	0	1	3	1	2	0	1	1	4	1	4	0	2	1	1	0	2	7	6			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr18:39607410T>C	ENST00000262039.4	+	14	1574	c.1488T>C	c.(1486-1488)taT>taC	p.Y496Y	PIK3C3_ENST00000593098.1_5'UTR|PIK3C3_ENST00000398870.3_Silent_p.Y433Y	NM_002647.2	NP_002638.2	Q8NEB9	PK3C3_HUMAN	phosphatidylinositol 3-kinase, catalytic subunit type 3	496	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.				autophagic vacuole assembly (GO:0000045)|cytokinesis (GO:0000910)|early endosome to late endosome transport (GO:0045022)|endosome organization (GO:0007032)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|protein processing (GO:0016485)|regulation of protein secretion (GO:0050708)|response to leucine (GO:0043201)|small molecule metabolic process (GO:0044281)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	axoneme (GO:0005930)|cytosol (GO:0005829)|late endosome (GO:0005770)|membrane (GO:0016020)|midbody (GO:0030496)|phagocytic vesicle (GO:0045335)|phosphatidylinositol 3-kinase complex (GO:0005942)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|ATP binding (GO:0005524)|protein kinase activity (GO:0004672)			breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(10)|liver(1)|lung(25)|ovary(1)|skin(2)|urinary_tract(1)	49						TTTTAAGGTATGTGATAGTGG	0.333										TSP Lung(28;0.18)																											NSCLC(37;552 1060 2683 16430 37914)	ENST00000262039.4																			0				breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(10)|liver(1)|lung(25)|ovary(1)|skin(2)|urinary_tract(1)	49						c.(1486-1488)taT>taC		phosphatidylinositol 3-kinase, catalytic subunit type 3							91	80	84					18																	39607410		2203	4300	6503	SO:0001819	synonymous_variant	5289				cell cycle|cytokinesis|fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway	midbody|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|protein binding	g.chr18:39607410T>C	Z46973	CCDS11920.1	18q12.3	2012-07-13	2012-07-13		ENSG00000078142	ENSG00000078142	2.7.1.137		8974	protein-coding gene	gene with protein product		602609	"phosphoinositide-3-kinase, class 3"			7628435	Standard	NM_002647		Approved	Vps34	uc002lap.3	Q8NEB9	OTTHUMG00000132593	ENST00000262039.4:c.1488T>C	18.37:g.39607410T>C		TSP Lung(28;0.18)				PIK3C3_ENST00000593098.1_5'UTR|PIK3C3_ENST00000398870.3_Silent_p.Y433Y	p.Y496Y	NM_002647.2	NP_002638.2	Q8NEB9	PK3C3_HUMAN			14	1574	+			496					Q15134	Silent	SNP	ENST00000262039.4	37	c.1488T>C	CCDS11920.1																																																																																				0.333	PIK3C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255804.1	NM_002647		3	38	0	0	0	1	0	3	38					C	39607410	T	C	39607410	2	2	228	1	0	0	0	0	0	0	0	1	11912	1471	51	4		4	PIK3C3	18	39607410	Silent	SNP	T	TCGA-HC-8216-01A-11D-A29Q-08		39607410	38469838	129	10603											
ALPK2	115701	broad.mit.edu	37	chr18	56203847	56203847	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagccaccacggagaccctcGtcccccaacctgagcgctgc	8	4	9	20	3	0	2	0	1	0	1	2	3	1	2	6	1	4	1	6	1	1	0	rs532039083		TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr18:56203847G>A	ENST00000361673.3	-	5	3785	c.3572C>T	c.(3571-3573)aCg>aTg	p.T1191M	RP11-1151B14.4_ENST00000591360.1_RNA	NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	1191						nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						GGAGACCCTCGTCCCCCAACC	0.557																																						ENST00000361673.3																			0				NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						c.(3571-3573)aCg>aTg		alpha-kinase 2							92	86	88					18																	56203847		2203	4300	6503	SO:0001583	missense	115701						ATP binding|protein serine/threonine kinase activity	g.chr18:56203847G>A	AY044450	CCDS11966.2	18q21.31	2013-01-11			ENSG00000198796	ENSG00000198796		"Immunoglobulin superfamily / I-set domain containing"	20565	protein-coding gene	gene with protein product	"heart alpha-kinase"					10021370	Standard	NM_052947		Approved	HAK	uc002lhj.4	Q86TB3	OTTHUMG00000132755	ENST00000361673.3:c.3572C>T	18.37:g.56203847G>A	ENSP00000354991:p.Thr1191Met					RP11-1151B14.4_ENST00000591360.1_RNA	p.T1191M	NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN			5	3785	-			1191					Q6ZUX0|Q8NAT5|Q96L95	Missense_Mutation	SNP	ENST00000361673.3	37	c.3572C>T	CCDS11966.2	.	.	.	.	.	.	.	.	.	.	G	6.623	0.483466	0.12581	.	.	ENSG00000198796	ENST00000361673	T	0.54675	0.56	4.99	2.11	0.27256	.	1.316200	0.04770	N	0.427769	T	0.38374	0.1038	N	0.15975	0.35	0.09310	N	1	B;B	0.27679	0.185;0.116	B;B	0.28232	0.087;0.04	T	0.35992	-0.9766	10	0.56958	D	0.05	-3.6697	7.4491	0.27227	0.1685:0.1397:0.6918:0.0	.	1186;1191	Q86TB3-2;Q86TB3	.;ALPK2_HUMAN	M	1191	ENSP00000354991:T1191M	ENSP00000354991:T1191M	T	-	2	0	ALPK2	54354827	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	-0.132000	0.10467	0.026000	0.15269	-0.921000	0.02739	ACG		0.557	ALPK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256126.1	NM_052947		5	140	0	0	0	1	0	5	140					A	56203847	G	A	56203847	3	1	228	1	0	0	0	0	1	0	0	0	545	1145	40	1	2976	1	ALPK2	18	56203847	Missense_Mutation	SNP	G	TCGA-HC-8216-01A-11D-A29Q-08	16596437	56203847	21873401	130	10604											
EEF2	1938	broad.mit.edu	37	chr19	3984203	3984203	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaagcgtgtctccccggccCgggccgaggcgatgatgccc	5	6	15	15	5	1	2	0	2	1	0	2	4	1	2	5	3	2	0	5	3	1	0			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr19:3984203C>G	ENST00000309311.6	-	2	237	c.149G>C	c.(148-150)cGg>cCg	p.R50P	EEF2_ENST00000600720.1_5'UTR|SNORD37_ENST00000384048.1_RNA	NM_001961.3	NP_001952.1	P13639	EF2_HUMAN	eukaryotic translation elongation factor 2	50	tr-type G. {ECO:0000255|PROSITE- ProRule:PRU01059}.				cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|hematopoietic progenitor cell differentiation (GO:0002244)|positive regulation of gene expression (GO:0010628)|positive regulation of translation (GO:0045727)|translation (GO:0006412)|translational elongation (GO:0006414)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|polysome (GO:0005844)|ribonucleoprotein complex (GO:0030529)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|translation activator activity (GO:0008494)|translation elongation factor activity (GO:0003746)			endometrium(4)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|GBM - Glioblastoma multiforme(1328;0.0223)|STAD - Stomach adenocarcinoma(1328;0.18)		CTCCCCGGCCCGGGCCGAGGC	0.622																																					Colon(165;1804 1908 4071 6587 18799)	ENST00000309311.6																			0				endometrium(4)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21						c.(148-150)cGg>cCg		eukaryotic translation elongation factor 2							117	111	113					19																	3984203		2203	4300	6503	SO:0001583	missense	1938					cytosol|ribonucleoprotein complex	GTP binding|GTPase activity|protein binding|translation elongation factor activity	g.chr19:3984203C>G	Z11692	CCDS12117.1	19p13.3	2012-09-20			ENSG00000167658	ENSG00000167658			3214	protein-coding gene	gene with protein product	"polypeptidyl-tRNA translocase"	130610		EF2		2610926, 6427766	Standard	NM_001961		Approved	EEF-2	uc002lze.3	P13639		ENST00000309311.6:c.149G>C	19.37:g.3984203C>G	ENSP00000307940:p.Arg50Pro					EEF2_ENST00000600720.1_5'UTR	p.R50P	NM_001961.3	NP_001952.1	P13639	EF2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|GBM - Glioblastoma multiforme(1328;0.0223)|STAD - Stomach adenocarcinoma(1328;0.18)	2	237	-		Hepatocellular(1079;0.137)	50					B2RMP5|D6W618|Q58J86	Missense_Mutation	SNP	ENST00000309311.6	37	c.149G>C	CCDS12117.1	.	.	.	.	.	.	.	.	.	.	C	25.5	4.646463	0.87958	.	.	ENSG00000167658	ENST00000543343;ENST00000309311	T	0.75821	-0.97	5.34	5.34	0.76211	Small GTP-binding protein domain (1);Protein synthesis factor, GTP-binding (1);	0.000000	0.85682	D	0.000000	T	0.77579	0.4151	L	0.55103	1.725	0.80722	D	1	P	0.43633	0.813	P	0.47044	0.535	T	0.79981	-0.1574	10	0.66056	D	0.02	-43.7742	18.0214	0.89255	0.0:1.0:0.0:0.0	.	50	P13639	EF2_HUMAN	P	50	ENSP00000307940:R50P	ENSP00000307940:R50P	R	-	2	0	EEF2	3935203	1.000000	0.71417	0.557000	0.28306	0.482000	0.33219	7.599000	0.82757	2.489000	0.83994	0.655000	0.94253	CGG		0.622	EEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457615.2	NM_001961		32	121	0	0	0	1	0	32	121					G	3984203	C	G	3984203	3	3	228	1	0	0	0	0	1	0	0	0	4929	652	23	5	2483	5	EEF2	19	3984203	Missense_Mutation	SNP	C	TCGA-HC-8216-01A-11D-A29Q-08		3984203	55144780	131	10605											
CREB3L3	84699	broad.mit.edu	37	chr19	4170156	4170156	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggatgtcagcttgcactgctCagaatcaggagttacagagg	11	9	13	8	0	3	2	3	0	0	2	3	4	3	4	0	3	4	4	0	3	2	2			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr19:4170156C>G	ENST00000078445.2	+	7	988	c.841C>G	c.(841-843)Cag>Gag	p.Q281E	CREB3L3_ENST00000252587.3_Intron|CREB3L3_ENST00000602257.1_Missense_Mutation_p.Q279E|CREB3L3_ENST00000595923.1_Missense_Mutation_p.Q280E|CREB3L3_ENST00000602147.1_Nonsense_Mutation_p.S245*	NM_001271995.1|NM_001271996.1|NM_032607.1	NP_001258924.1|NP_001258925.1|NP_115996.1	Q68CJ9	CR3L3_HUMAN	cAMP responsive element binding protein 3-like 3	281	bZIP. {ECO:0000255|PROSITE- ProRule:PRU00978}.				positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to unfolded protein (GO:0006986)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)			breast(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(2)|urinary_tract(3)	24				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0232)|STAD - Stomach adenocarcinoma(1328;0.18)		TTGCACTGCTCAGAATCAGGA	0.562																																						ENST00000602147.1																			0				breast(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(2)|urinary_tract(3)	24						c.(733-735)tCa>tGa		cAMP responsive element binding protein 3-like 3							124	103	110					19																	4170156		2203	4300	6503	SO:0001583	missense	84699				response to unfolded protein	endoplasmic reticulum membrane|integral to membrane|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr19:4170156C>G		CCDS12121.1, CCDS62498.1, CCDS62499.1, CCDS62500.1	19p13.3	2013-01-10				ENSG00000060566		"basic leucine zipper proteins"	18855	protein-coding gene	gene with protein product		611998				11353085	Standard	NM_032607		Approved	CREB-H	uc002lzl.4	Q68CJ9		ENST00000078445.2:c.841C>G	19.37:g.4170156C>G	ENSP00000078445:p.Gln281Glu					CREB3L3_ENST00000252587.3_Intron|CREB3L3_ENST00000602257.1_Missense_Mutation_p.Q279E|CREB3L3_ENST00000078445.2_Missense_Mutation_p.Q281E|CREB3L3_ENST00000595923.1_Missense_Mutation_p.Q280E	p.S245*			Q68CJ9	CR3L3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0232)|STAD - Stomach adenocarcinoma(1328;0.18)	6	814	+			0					B2R7S6|B7ZL69|M0QYW7|Q6ZMC5|Q96TB9	Nonsense_Mutation	SNP	ENST00000078445.2	37	c.734C>G	CCDS12121.1	.	.	.	.	.	.	.	.	.	.	C	13.89	2.370987	0.42003	.	.	ENSG00000060566	ENST00000078445	T	0.39787	1.06	5.37	4.29	0.51040	Basic-leucine zipper (bZIP) transcription factor (2);bZIP transcription factor, bZIP-1 (1);	.	.	.	.	T	0.24392	0.0591	N	0.16790	0.44	0.80722	D	1	B;B;B	0.31640	0.122;0.285;0.333	B;B;B	0.32533	0.057;0.091;0.147	T	0.05402	-1.0887	9	0.02654	T	1	.	13.8855	0.63706	0.0:0.8468:0.1532:0.0	.	279;280;281	B7ZL69;Q68CJ9-2;Q68CJ9	.;.;CR3L3_HUMAN	E	281	ENSP00000078445:Q281E	ENSP00000078445:Q281E	Q	+	1	0	CREB3L3	4121156	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	4.178000	0.58284	2.516000	0.84829	0.650000	0.86243	CAG		0.562	CREB3L3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000457922.1	NM_032607		6	107	0	0	0	1	0	6	107					G	4170156	C	G	4170156	3	3	228	1	0	0	0	0	1	0	0	0	3858	827	29	5	867	5	CREB3L3	19	4170156	Missense_Mutation	SNP	C	TCGA-HC-8216-01A-11D-A29Q-08	185953	4170156	54958827	132	10606											
MUC16	94025	broad.mit.edu	37	chr19	9086744	9086744	+	Nonsense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	taatgactggctgatgcttcTtcctggagcactagtaacaa	11	12	9	9	0	1	2	0	2	1	0	2	3	2	3	1	2	3	4	1	2	4	5			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr19:9086744T>A	ENST00000397910.4	-	1	5274	c.5071A>T	c.(5071-5073)Aga>Tga	p.R1691*		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	1691	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CTGATGCTTCTTCCTGGAGCA	0.478																																						ENST00000397910.4																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(5071-5073)Aga>Tga		mucin 16, cell surface associated							131	123	126					19																	9086744		1964	4169	6133	SO:0001587	stop_gained	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9086744T>A	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.5071A>T	19.37:g.9086744T>A	ENSP00000381008:p.Arg1691*						p.R1691*	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			1	5274	-			1691			Ser-rich.|Thr-rich.		Q6ZQW5|Q96RK2	Nonsense_Mutation	SNP	ENST00000397910.4	37	c.5071A>T	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	t	44	10.943031	0.99492	.	.	ENSG00000181143	ENST00000397910	.	.	.	1.18	-2.35	0.06684	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	2.8326	0.05505	0.0:0.3383:0.2525:0.4092	.	.	.	.	X	1691	.	ENSP00000381008:R1691X	R	-	1	2	MUC16	8947744	0.009000	0.17119	0.000000	0.03702	0.092000	0.18411	0.478000	0.22212	-1.247000	0.02507	0.260000	0.18958	AGA		0.478	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		5	119	0	0	0	1	0	5	119					A	9086744	T	A	9086744	4	1	228	1	0	0	0	0	0	1	0	0	9973	1617	56	5	38788	5	MUC16	19	9086744	Nonsense_Mutation	SNP	T	TCGA-HC-8216-01A-11D-A29Q-08	4916588	9086744	50042239	133	10607											
LDLR	3949	broad.mit.edu	37	chr19	11233932	11233932	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccgtaaggacacagcacacAaccacccgacctgttcccga	12	4	8	17	3	0	0	0	0	0	0	1	3	1	1	5	1	2	3	5	1	2	2			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr19:11233932A>T	ENST00000558518.1	+	15	2410	c.2223A>T	c.(2221-2223)acA>acT	p.T741T	LDLR_ENST00000535915.1_Silent_p.T700T|LDLR_ENST00000557933.1_Silent_p.T741T|LDLR_ENST00000455727.2_Silent_p.T573T|LDLR_ENST00000545707.1_Silent_p.T563T|LDLR_ENST00000558013.1_Silent_p.T741T	NM_000527.4|NM_001195798.1	NP_000518.1|NP_001182727.1	P01130	LDLR_HUMAN	low density lipoprotein receptor	741	Clustered O-linked oligosaccharides.				cholesterol homeostasis (GO:0042632)|cholesterol import (GO:0070508)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|endocytosis (GO:0006897)|intestinal cholesterol absorption (GO:0030299)|lipid metabolic process (GO:0006629)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|low-density lipoprotein particle clearance (GO:0034383)|phospholipid transport (GO:0015914)|phototransduction, visible light (GO:0007603)|positive regulation of triglyceride biosynthetic process (GO:0010867)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol homeostasis (GO:2000188)|regulation of phosphatidylcholine catabolic process (GO:0010899)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cell surface (GO:0009986)|clathrin-coated endocytic vesicle membrane (GO:0030669)|coated pit (GO:0005905)|early endosome (GO:0005769)|endosome membrane (GO:0010008)|external side of plasma membrane (GO:0009897)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|low-density lipoprotein particle (GO:0034362)|lysosome (GO:0005764)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|glycoprotein binding (GO:0001948)|low-density lipoprotein particle binding (GO:0030169)|low-density lipoprotein receptor activity (GO:0005041)|very-low-density lipoprotein particle receptor activity (GO:0030229)			breast(2)|endometrium(2)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Lung NSC(9;0.000245)|Renal(1328;0.0007)|Hepatocellular(1079;0.0524)		GBM - Glioblastoma multiforme(1328;1.36e-05)|STAD - Stomach adenocarcinoma(1328;0.000766)|Lung(535;0.197)	Porfimer(DB00707)	CACAGCACACAACCACCCGAC	0.582																																					GBM(18;201 575 7820 21545)	ENST00000558518.1																			0				breast(2)|endometrium(2)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						c.(2221-2223)acA>acT		low density lipoprotein receptor	Methyl aminolevulinate(DB00992)|Porfimer(DB00707)						173	129	144					19																	11233932		2203	4300	6503	SO:0001819	synonymous_variant	3949				cholesterol homeostasis|cholesterol metabolic process|interspecies interaction between organisms|intestinal cholesterol absorption|low-density lipoprotein particle clearance|receptor-mediated endocytosis	clathrin-coated endocytic vesicle membrane|coated pit|early endosome|endosome membrane|external side of plasma membrane|integral to plasma membrane|low-density lipoprotein particle|lysosome	calcium ion binding|low-density lipoprotein receptor activity|protein binding|very-low-density lipoprotein particle receptor activity	g.chr19:11233932A>T	AY114155	CCDS12254.1, CCDS56083.1, CCDS56084.1, CCDS56085.1, CCDS58651.1	19p13.2	2014-09-17	2008-08-01		ENSG00000130164	ENSG00000130164		"Low density lipoprotein receptors"	6547	protein-coding gene	gene with protein product	"familial hypercholesterolemia"	606945					Standard	NM_000527		Approved	LDLCQ2	uc002mqk.4	P01130		ENST00000558518.1:c.2223A>T	19.37:g.11233932A>T						LDLR_ENST00000545707.1_Silent_p.T563T|LDLR_ENST00000535915.1_Silent_p.T700T|LDLR_ENST00000558013.1_Silent_p.T741T|LDLR_ENST00000455727.2_Silent_p.T573T|LDLR_ENST00000557933.1_Silent_p.T741T	p.T741T	NM_000527.4|NM_001195798.1	NP_000518.1|NP_001182727.1	P01130	LDLR_HUMAN		GBM - Glioblastoma multiforme(1328;1.36e-05)|STAD - Stomach adenocarcinoma(1328;0.000766)|Lung(535;0.197)	15	2410	+		Lung NSC(9;0.000245)|Renal(1328;0.0007)|Hepatocellular(1079;0.0524)	741			Clustered O-linked oligosaccharides.		B4DII3|B4DJZ8|B4DR00|B4DTQ3|C0JYY8|H0YLU8|H0YNT7|Q53ZD9|Q59FQ1|Q9UDH7	Silent	SNP	ENST00000558518.1	37	c.2223A>T	CCDS12254.1																																																																																				0.582	LDLR-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000415973.2			9	83	0	0	0	1	0	9	83					T	11233932	A	T	11233932	2	4	228	1	0	0	0	0	0	0	0	1	8704	117	5	5		5	LDLR	19	11233932	Silent	SNP	A	TCGA-HC-8216-01A-11D-A29Q-08	2147188	11233932	47895051	134	10608											
ACP5	54	broad.mit.edu	37	chr19	11687381	11687381	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgggatcttgaagtgcaggcGgtagaaagggctggggaagt	10	8	19	4	1	1	2	0	1	1	1	1	4	1	4	0	6	1	3	0	6	4	2			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr19:11687381G>A	ENST00000592828.1	-	6	814	c.412C>T	c.(412-414)Cgc>Tgc	p.R138C	ACP5_ENST00000218758.5_Missense_Mutation_p.R138C|ACP5_ENST00000590420.1_Intron|ACP5_ENST00000433365.2_Missense_Mutation_p.R138C|ACP5_ENST00000412435.2_Missense_Mutation_p.R138C	NM_001111034.1	NP_001104504.1	P13686	PPA5_HUMAN	acid phosphatase 5, tartrate resistant	138					bone morphogenesis (GO:0060349)|bone resorption (GO:0045453)|defense response to Gram-positive bacterium (GO:0050830)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 beta production (GO:0032691)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of nitric oxide biosynthetic process (GO:0045019)|negative regulation of superoxide anion generation (GO:0032929)|negative regulation of tumor necrosis factor production (GO:0032720)|response to cytokine (GO:0034097)|response to lipopolysaccharide (GO:0032496)|riboflavin metabolic process (GO:0006771)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)	acid phosphatase activity (GO:0003993)|ferric iron binding (GO:0008199)|ferrous iron binding (GO:0008198)			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)	9						AAGTGCAGGCGGTAGAAAGGG	0.562																																						ENST00000592828.1																			0				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)	9						c.(412-414)Cgc>Tgc		acid phosphatase 5, tartrate resistant							78	87	84					19																	11687381		2203	4300	6503	SO:0001583	missense	54				water-soluble vitamin metabolic process	cytosol|integral to membrane|lysosome	acid phosphatase activity|ferric iron binding|ferrous iron binding	g.chr19:11687381G>A	X14618	CCDS12265.1	19p13.2	2012-10-02			ENSG00000102575	ENSG00000102575	3.1.3.2		124	protein-coding gene	gene with protein product	"tartrate-resistant acid phosphatase"	171640				8449511, 2338077	Standard	NM_001611		Approved	TRAP	uc002msj.4	P13686	OTTHUMG00000182036	ENST00000592828.1:c.412C>T	19.37:g.11687381G>A	ENSP00000468767:p.Arg138Cys					ACP5_ENST00000218758.5_Missense_Mutation_p.R138C|ACP5_ENST00000433365.2_Missense_Mutation_p.R138C|ACP5_ENST00000590420.1_Intron|ACP5_ENST00000412435.2_Missense_Mutation_p.R138C	p.R138C	NM_001111034.1	NP_001104504.1	P13686	PPA5_HUMAN			6	814	-			138					A8K3V2|Q2TAB1|Q6IAS6|Q9UCJ5|Q9UCJ6|Q9UCJ7	Missense_Mutation	SNP	ENST00000592828.1	37	c.412C>T	CCDS12265.1	.	.	.	.	.	.	.	.	.	.	g	13.95	2.389126	0.42410	.	.	ENSG00000102575	ENST00000218758;ENST00000412435;ENST00000433365	T;T;T	0.70516	-0.49;-0.49;-0.49	5.13	4.1	0.47936	Metallophosphoesterase domain (1);	0.161188	0.56097	D	0.000038	T	0.73923	0.3649	L	0.61218	1.895	0.80722	D	1	D	0.71674	0.998	P	0.57720	0.826	T	0.73895	-0.3838	10	0.56958	D	0.05	-0.1926	4.323	0.11027	0.0864:0.1537:0.6014:0.1585	.	138	P13686	PPA5_HUMAN	C	138	ENSP00000218758:R138C;ENSP00000392374:R138C;ENSP00000413456:R138C	ENSP00000218758:R138C	R	-	1	0	ACP5	11548381	1.000000	0.71417	0.996000	0.52242	0.025000	0.11179	3.774000	0.55341	1.156000	0.42514	-0.136000	0.14681	CGC		0.562	ACP5-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458881.1			19	41	0	0	0	1	0	19	41					A	11687381	G	A	11687381	3	1	228	1	0	0	0	0	1	0	0	0	164	1116	39	2	573	2	ACP5	19	11687381	Missense_Mutation	SNP	G	TCGA-HC-8216-01A-11D-A29Q-08	453449	11687381	47441602	135	10609											
ANKLE1	126549	broad.mit.edu	37	chr19	17394177	17394177	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttccccttgaaactgtggacAaacatgggagctcggcgtcc	9	9	11	12	2	0	1	0	1	0	0	3	3	2	3	3	3	3	1	3	3	2	2			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr19:17394177A>G	ENST00000394458.3	+	5	880	c.604A>G	c.(604-606)Aaa>Gaa	p.K202E	ANKLE1_ENST00000598347.1_Missense_Mutation_p.K202E|ANKLE1_ENST00000594072.1_Missense_Mutation_p.K191E|ANKLE1_ENST00000433424.2_Missense_Mutation_p.K256E|ANKLE1_ENST00000404085.1_Missense_Mutation_p.K224E	NM_152363.4	NP_689576	Q8NAG6	ANKL1_HUMAN	ankyrin repeat and LEM domain containing 1	202										large_intestine(1)|lung(3)|prostate(1)|skin(1)|urinary_tract(1)	7						AACTGTGGACAAACATGGGAG	0.602																																						ENST00000394458.3																			0				large_intestine(1)|lung(3)|prostate(1)|skin(1)|urinary_tract(1)	7						c.(604-606)Aaa>Gaa		ankyrin repeat and LEM domain containing 1							78	89	85					19																	17394177		2202	4299	6501	SO:0001583	missense	126549					nuclear envelope		g.chr19:17394177A>G	AK096688	CCDS12354.2, CCDS12354.3	19p13.11	2013-01-10	2008-03-25	2008-03-25	ENSG00000160117	ENSG00000160117		"Ankyrin repeat domain containing"	26812	protein-coding gene	gene with protein product	"LEM domain containing 6"		"ankyrin repeat domain 41"	ANKRD41			Standard	NM_152363		Approved	FLJ39369, LEMD6	uc002nga.2	Q8NAG6	OTTHUMG00000150839	ENST00000394458.3:c.604A>G	19.37:g.17394177A>G	ENSP00000377971:p.Lys202Glu					ANKLE1_ENST00000404085.1_Missense_Mutation_p.K224E|ANKLE1_ENST00000598347.1_Missense_Mutation_p.K202E|ANKLE1_ENST00000594072.1_Missense_Mutation_p.K191E|ANKLE1_ENST00000433424.2_Missense_Mutation_p.K256E	p.K202E	NM_152363.4	NP_689576.4	Q8NAG6	ANKL1_HUMAN			5	880	+			202					A8VU82|Q8N8J8	Missense_Mutation	SNP	ENST00000394458.3	37	c.604A>G	CCDS12354.2	.	.	.	.	.	.	.	.	.	.	A	6.252	0.414595	0.11870	.	.	ENSG00000160117	ENST00000404261;ENST00000433424;ENST00000404085;ENST00000394458;ENST00000438921	T;T;T	0.71341	-0.42;-0.51;-0.56	3.87	-7.16	0.01516	.	3.542530	0.01307	N	0.010505	T	0.38639	0.1048	N	0.08118	0	0.09310	N	1	B;B;B;B	0.18166	0.026;0.002;0.0;0.0	B;B;B;B	0.14023	0.01;0.004;0.001;0.0	T	0.49781	-0.8903	10	0.05351	T	0.99	-18.8331	2.1543	0.03808	0.3319:0.191:0.3586:0.1185	.	202;188;202;191	E7ETZ9;Q8NAG6-1;Q8NAG6;A0JLW0	.;.;ANKL1_HUMAN;.	E	202;256;224;191;202	ENSP00000384753:K202E;ENSP00000394460:K256E;ENSP00000384008:K224E	ENSP00000377971:K191E	K	+	1	0	ANKLE1	17255177	0.000000	0.05858	0.000000	0.03702	0.693000	0.40251	-1.671000	0.01954	-1.744000	0.01338	0.260000	0.18958	AAA		0.602	ANKLE1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000325392.2	NM_152363		5	125	0	0	0	1	0	5	125					G	17394177	A	G	17394177	3	3	228	1	0	0	0	0	1	0	0	0	632	131	5	4	622	4	ANKLE1	19	17394177	Missense_Mutation	SNP	A	TCGA-HC-8216-01A-11D-A29Q-08	5706796	17394177	41734806	136	10610											
SIGLEC11	114132	broad.mit.edu	37	chr19	50461937	50461937	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agagagacgtgctgggagccCagagggtgctgagcgtggca	9	5	19	8	2	0	4	0	1	0	3	0	6	0	5	1	3	4	3	1	3	0	0			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr19:50461937C>A	ENST00000447370.2	-	7	1416	c.1326G>T	c.(1324-1326)ctG>ctT	p.L442L	SIGLEC11_ENST00000426971.2_Silent_p.L442L|CTC-326K19.6_ENST00000451973.1_5'Flank	NM_052884.2	NP_443116.2	Q96RL6	SIG11_HUMAN	sialic acid binding Ig-like lectin 11	442	Ig-like C2-type 3.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(6)|pancreas(1)|prostate(1)|skin(1)	32		all_lung(116;0.00318)|all_neural(266;0.107)|Ovarian(192;0.17)		GBM - Glioblastoma multiforme(134;0.00107)|OV - Ovarian serous cystadenocarcinoma(262;0.00517)		GCTGGGAGCCCAGAGGGTGCT	0.667																																						ENST00000447370.2																			0				breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(6)|pancreas(1)|prostate(1)|skin(1)	32						c.(1324-1326)ctG>ctT		sialic acid binding Ig-like lectin 11							83	80	81					19																	50461937		2203	4300	6503	SO:0001819	synonymous_variant	114132				cell adhesion	integral to membrane	sugar binding	g.chr19:50461937C>A	AF337818	CCDS12790.2, CCDS46150.1	19q13.3	2013-01-29			ENSG00000161640	ENSG00000161640		"Sialic acid binding Ig-like lectins", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	15622	protein-coding gene	gene with protein product		607157				11986327	Standard	NM_052884		Approved		uc010ybi.2	Q96RL6	OTTHUMG00000157077	ENST00000447370.2:c.1326G>T	19.37:g.50461937C>A						SIGLEC11_ENST00000426971.2_Silent_p.L442L	p.L442L	NM_052884.2	NP_443116.2	Q96RL6	SIG11_HUMAN		GBM - Glioblastoma multiforme(134;0.00107)|OV - Ovarian serous cystadenocarcinoma(262;0.00517)	7	1416	-		all_lung(116;0.00318)|all_neural(266;0.107)|Ovarian(192;0.17)	442			Ig-like C2-type 3.			Silent	SNP	ENST00000447370.2	37	c.1326G>T	CCDS12790.2	.	.	.	.	.	.	.	.	.	.	C	4.182	0.032380	0.08101	.	.	ENSG00000161640	ENST00000426971	.	.	.	3.1	3.1	0.35709	.	.	.	.	.	T	0.60011	0.2236	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.58081	-0.7699	4	.	.	.	.	10.4007	0.44229	0.0:1.0:0.0:0.0	.	.	.	.	L	432	.	.	W	-	2	0	SIGLEC11	55153749	0.005000	0.15991	0.200000	0.23457	0.016000	0.09150	0.108000	0.15396	1.672000	0.50884	0.556000	0.70494	TGG		0.667	SIGLEC11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000347382.1	NM_052884		12	142	1	0	2.68362e-12	1	3.30728e-12	12	142					A	50461937	C	A	50461937	2	1	228	1	0	0	0	0	0	0	0	1	14307	581	21	5		5	SIGLEC11	19	50461937	Silent	SNP	C	TCGA-HC-8216-01A-11D-A29Q-08	33067760	50461937	8667046	137	10611											
LILRB2	10288	broad.mit.edu	37	chr19	54778668	54778668	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtaggtcacatcctggggggCttcagatgcagcagcctgca	8	8	14	11	0	2	1	2	0	0	1	3	1	3	1	2	4	4	5	2	4	1	2			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr19:54778668C>A	ENST00000391749.4	-	14	1937	c.1666G>T	c.(1666-1668)Gcc>Tcc	p.A556S	LILRB2_ENST00000314446.5_Missense_Mutation_p.A555S|LILRB2_ENST00000391748.1_Missense_Mutation_p.A555S|LILRB2_ENST00000391746.1_3'UTR|LILRB2_ENST00000434421.1_Missense_Mutation_p.A440S	NM_001278406.1	NP_001265335.1	Q8N423	LIRB2_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 2	556					cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|cellular defense response (GO:0006968)|cellular response to lipopolysaccharide (GO:0071222)|Fc receptor mediated inhibitory signaling pathway (GO:0002774)|heterotypic cell-cell adhesion (GO:0034113)|immune response (GO:0006955)|immune response-inhibiting cell surface receptor signaling pathway (GO:0002767)|negative regulation of antigen processing and presentation (GO:0002578)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of T cell proliferation (GO:0042130)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of regulatory T cell differentiation (GO:0045591)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of T cell tolerance induction (GO:0002666)|regulation of dendritic cell differentiation (GO:2001198)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|inhibitory MHC class I receptor activity (GO:0032396)|MHC class I protein binding (GO:0042288)|MHC class Ib protein binding (GO:0023029)|protein phosphatase 1 binding (GO:0008157)|receptor activity (GO:0004872)			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(30)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	44	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		TCCTGGGGGGCTTCAGATGCA	0.637																																						ENST00000391748.1																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(30)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	44						c.(1663-1665)Gcc>Tcc		leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 2							66	67	67					19																	54778668		2203	4297	6500	SO:0001583	missense	0				cell surface receptor linked signaling pathway|cell-cell signaling|cellular defense response|immune response|regulation of immune response	integral to plasma membrane|membrane fraction	receptor activity	g.chr19:54778668C>A	AF000574	CCDS12886.1, CCDS42612.1, CCDS62791.1, CCDS62792.1	19q13.4	2013-01-11			ENSG00000131042	ENSG00000131042		"Leukocyte immunoglobulin-like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6606	protein-coding gene	gene with protein product		604815				9151699, 9079806	Standard	XM_006722966		Approved	LIR-2, ILT4, MIR-10, LIR2, CD85d, MIR10	uc002qfb.3	Q8N423	OTTHUMG00000064896	ENST00000391749.4:c.1666G>T	19.37:g.54778668C>A	ENSP00000375629:p.Ala556Ser					LILRB2_ENST00000391746.1_3'UTR|LILRB2_ENST00000314446.5_Missense_Mutation_p.A555S|LILRB2_ENST00000391749.4_Missense_Mutation_p.A556S|LILRB2_ENST00000434421.1_Missense_Mutation_p.A440S	p.A555S	NM_001278403.1	NP_001265332.1	Q8N423	LIRB2_HUMAN		GBM - Glioblastoma multiforme(193;0.105)	14	1790	-	Ovarian(34;0.19)		556					A8MU67|C9JF29|O75017|Q8NHJ7|Q8NHJ8	Missense_Mutation	SNP	ENST00000391749.4	37	c.1663G>T	CCDS12886.1	.	.	.	.	.	.	.	.	.	.	C	1.495	-0.553524	0.03996	.	.	ENSG00000131042	ENST00000391748;ENST00000314446;ENST00000391749;ENST00000434421	T;T;T;T	0.00505	7.02;7.02;7.02;6.93	1.31	0.197	0.15164	.	.	.	.	.	T	0.00300	0.0009	L	0.33245	0.995	0.09310	N	1	P;B	0.41420	0.749;0.209	B;B	0.32980	0.156;0.058	T	0.45131	-0.9282	9	0.31617	T	0.26	.	4.0529	0.09803	0.0:0.7576:0.0:0.2424	.	572;556	E7EVY1;Q8N423	.;LIRB2_HUMAN	S	555;555;556;440	ENSP00000375628:A555S;ENSP00000319960:A555S;ENSP00000375629:A556S;ENSP00000410117:A440S	ENSP00000319960:A555S	A	-	1	0	LILRB2	59470480	0.001000	0.12720	0.009000	0.14445	0.139000	0.21198	1.191000	0.32138	0.133000	0.18654	-0.734000	0.03567	GCC		0.637	LILRB2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000139510.1			4	81	1	0	0.00024832	1	0.000275038	4	81					A	54778668	C	A	54778668	3	1	228	1	0	0	0	0	1	0	0	0	8791	797	28	5	134	5	LILRB2	19	54778668	Missense_Mutation	SNP	C	TCGA-HC-8216-01A-11D-A29Q-08	4316731	54778668	4350315	138	10612											
TMEM86B	255043	broad.mit.edu	37	chr19	55739730	55739730	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	agcgaaccaggacagctggtCctcgggaatccagaggcaga	12	4	14	11	2	0	2	0	0	0	2	3	5	2	4	3	4	3	2	3	4	2	0			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr19:55739730C>A	ENST00000327042.4	-	2	649	c.127G>T	c.(127-129)Gac>Tac	p.D43Y	AC010327.2_ENST00000598855.1_3'UTR	NM_173804.4	NP_776165.3	Q8N661	TM86B_HUMAN	transmembrane protein 86B	43					ether lipid metabolic process (GO:0046485)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	alkenylglycerophosphocholine hydrolase activity (GO:0047408)|alkenylglycerophosphoethanolamine hydrolase activity (GO:0047409)			skin(2)	2			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0443)		GACAGCTGGTCCTCGGGAATC	0.637																																						ENST00000327042.4																			0				skin(2)	2						c.(127-129)Gac>Tac		transmembrane protein 86B							59	52	55					19																	55739730		2201	4299	6500	SO:0001583	missense	255043				ether lipid metabolic process	cytoplasmic part|integral to membrane	alkenylglycerophosphocholine hydrolase activity|alkenylglycerophosphoethanolamine hydrolase activity	g.chr19:55739730C>A	BC023000	CCDS12920.1	19q13.42	2011-07-12					3.3.2.2, 3.3.2.5		28448	protein-coding gene	gene with protein product						21515882	Standard	NM_173804		Approved	MGC30208	uc002qju.3	Q8N661		ENST00000327042.4:c.127G>T	19.37:g.55739730C>A	ENSP00000321038:p.Asp43Tyr					AC010327.2_ENST00000598855.1_3'UTR	p.D43Y	NM_173804.4	NP_776165.3	Q8N661	TM86B_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0443)	2	649	-			43						Missense_Mutation	SNP	ENST00000327042.4	37	c.127G>T	CCDS12920.1	.	.	.	.	.	.	.	.	.	.	.	15.59	2.878864	0.51801	.	.	ENSG00000180089	ENST00000327042	T	0.23348	1.91	5.28	0.683	0.17998	.	0.540461	0.19293	N	0.117834	T	0.30479	0.0766	L	0.38175	1.15	0.19575	N	0.999966	D	0.76494	0.999	P	0.61328	0.887	T	0.08186	-1.0734	10	0.72032	D	0.01	.	6.0209	0.19628	0.0:0.5819:0.1299:0.2881	.	43	Q8N661	TM86B_HUMAN	Y	43	ENSP00000321038:D43Y	ENSP00000321038:D43Y	D	-	1	0	TMEM86B	60431542	0.000000	0.05858	0.142000	0.22268	0.797000	0.45037	0.091000	0.15046	0.056000	0.16144	0.655000	0.94253	GAC		0.637	TMEM86B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452659.1	NM_173804		4	42	1	0	1	1	1	4	42					A	55739730	C	A	55739730	3	1	228	1	0	0	0	0	1	0	0	0	16206	855	30	5	561	5	TMEM86B	19	55739730	Missense_Mutation	SNP	C	TCGA-HC-8216-01A-11D-A29Q-08	961062	55739730	3389253	139	10613											
DEFB125	245938	broad.mit.edu	37	chr20	76981	76981	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgaggccactactcccgagActactatgccaccatctgag	10	8	8	15	1	1	3	0	2	1	1	2	4	2	3	4	1	3	0	4	1	3	3			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr20:76981A>T	ENST00000382410.2	+	2	394	c.394A>T	c.(394-396)Act>Tct	p.T132S	DEFB125_ENST00000608838.1_3'UTR	NM_153325.2	NP_697020.2	Q8N687	DB125_HUMAN	defensin, beta 125	132					defense response to bacterium (GO:0042742)	extracellular region (GO:0005576)				central_nervous_system(1)|large_intestine(1)|lung(7)|ovary(1)|skin(2)	12		all_cancers(10;7.65e-05)|Lung NSC(37;0.0417)|all_epithelial(17;0.0676)|all_lung(30;0.0713)|Breast(17;0.231)	OV - Ovarian serous cystadenocarcinoma(29;0.156)			TACTCCCGAGACTACTATGCC	0.433																																						ENST00000382410.2																			0				central_nervous_system(1)|large_intestine(1)|lung(7)|ovary(1)|skin(2)	12						c.(394-396)Act>Tct		defensin, beta 125							237	215	223					20																	76981		2203	4300	6503	SO:0001583	missense	245938				defense response to bacterium	extracellular region		g.chr20:76981A>T	AA935636	CCDS12989.2	20p13	2008-07-17			ENSG00000178591	ENSG00000178591		"Defensins, beta"	18105	protein-coding gene	gene with protein product	"beta defensin 25"					11854508	Standard	NM_153325		Approved	DEFB-25	uc002wcw.3	Q8N687	OTTHUMG00000031614	ENST00000382410.2:c.394A>T	20.37:g.76981A>T	ENSP00000371847:p.Thr132Ser						p.T132S	NM_153325.2	NP_697020.2	Q8N687	DB125_HUMAN	OV - Ovarian serous cystadenocarcinoma(29;0.156)		2	394	+		all_cancers(10;7.65e-05)|Lung NSC(37;0.0417)|all_epithelial(17;0.0676)|all_lung(30;0.0713)|Breast(17;0.231)	132					A1A502|Q7Z7B9	Missense_Mutation	SNP	ENST00000382410.2	37	c.394A>T	CCDS12989.2	.	.	.	.	.	.	.	.	.	.	.	10.15	1.272365	0.23221	.	.	ENSG00000178591	ENST00000382410	T	0.12039	2.72	2.03	-2.63	0.06133	.	.	.	.	.	T	0.06005	0.0156	N	0.19112	0.55	0.09310	N	1	P	0.37233	0.588	B	0.33196	0.159	T	0.24870	-1.0148	9	0.87932	D	0	4.2373	0.0993	0.00046	0.3574:0.1986:0.1626:0.2814	.	132	Q8N687	DB125_HUMAN	S	132	ENSP00000371847:T132S	ENSP00000371847:T132S	T	+	1	0	DEFB125	24981	0.000000	0.05858	0.000000	0.03702	0.026000	0.11368	-0.547000	0.06055	-0.727000	0.04888	0.460000	0.39030	ACT		0.433	DEFB125-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077426.2	NM_153325		8	218	0	0	0	1	0	8	218					T	76981	A	T	76981	3	4	228	1	0	0	0	0	1	0	0	0	4411	275	10	5	400	5	DEFB125	20	76981	Missense_Mutation	SNP	A	TCGA-HC-8216-01A-11D-A29Q-08		76981	62948539	140	10614											
PCSK2	5126	broad.mit.edu	37	chr20	17410083	17410083	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttatatttttccaaagccaCgggacccgatgtgcaggaga	11	11	10	9	2	0	1	0	0	0	1	1	4	1	2	3	2	2	1	3	2	3	5	rs114984146	byFrequency	TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr20:17410083C>T	ENST00000262545.2	+	7	939	c.624C>T	c.(622-624)caC>caT	p.H208H	PCSK2_ENST00000377899.1_Silent_p.H189H|PCSK2_ENST00000536609.1_Silent_p.H173H	NM_002594.3	NP_002585.2	P16519	NEC2_HUMAN	proprotein convertase subtilisin/kexin type 2	208	Peptidase S8.				cellular protein metabolic process (GO:0044267)|embryo development (GO:0009790)|enkephalin processing (GO:0034230)|insulin processing (GO:0030070)|islet amyloid polypeptide processing (GO:0034231)|nervous system development (GO:0007399)|protein autoprocessing (GO:0016540)|proteolysis (GO:0006508)	dendrite (GO:0030425)|extracellular space (GO:0005615)|membrane (GO:0016020)|perikaryon (GO:0043204)|secretory granule lumen (GO:0034774)	serine-type endopeptidase activity (GO:0004252)			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|lung(17)|ovary(3)|pancreas(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	53					"""Insulin(DB00071)|Insulin Regular(DB00030)"	TCCAAAGCCACGGGACCCGAT	0.438													C|||	6	0.00119808	0.0045	0	5008	,	,		15811	0		0	False		,,,				2504	0					ENST00000262545.2																			0				breast(2)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|lung(17)|ovary(3)|pancreas(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	53						c.(622-624)caC>caT		proprotein convertase subtilisin/kexin type 2	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	C	,,	17,4389	25.3+/-52.1	0,17,2186	123	126	125		567,519,624	-11.4	0.1	20	dbSNP_132	125	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous	PCSK2	NM_001201528.1,NM_001201529.1,NM_002594.3	,,	0,17,6486	TT,TC,CC		0.0,0.3858,0.1307	,,	189/620,173/604,208/639	17410083	17,12989	2203	4300	6503	SO:0001819	synonymous_variant	5126				enkephalin processing|insulin processing|islet amyloid polypeptide processing	extracellular space|membrane|soluble fraction|transport vesicle	serine-type endopeptidase activity	g.chr20:17410083C>T	AK312341	CCDS13125.1, CCDS56179.1, CCDS56180.1	20p11.2	2008-08-01			ENSG00000125851	ENSG00000125851			8744	protein-coding gene	gene with protein product	"neuroendocrine convertase 2", "KEX2-like endoprotease 2"	162151		NEC2		1765368	Standard	NM_001201528		Approved	PC2, SPC2	uc002wpm.3	P16519	OTTHUMG00000031941	ENST00000262545.2:c.624C>T	20.37:g.17410083C>T						PCSK2_ENST00000377899.1_Silent_p.H189H|PCSK2_ENST00000536609.1_Silent_p.H173H	p.H208H	NM_002594.3	NP_002585.2	P16519	NEC2_HUMAN			7	939	+			208			Catalytic.		B1ANH9|B4DFQ3|Q14927|Q5JYQ1|Q8IWA8|Q9NQG3|Q9NUG1|Q9UJC6	Silent	SNP	ENST00000262545.2	37	c.624C>T	CCDS13125.1																																																																																				0.438	PCSK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078120.2	NM_002594		6	130	0	0	0	1	0	6	130					T	17410083	C	T	17410083	2	4	228	1	0	0	0	0	0	0	0	1	11601	535	19	1		1	PCSK2	20	17410083	Silent	SNP	C	TCGA-HC-8216-01A-11D-A29Q-08	17333102	17410083	45615437	141	10615											
MYLK2	85366	broad.mit.edu	37	chr20	30408169	30408169	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tgggcccccggcagccctgcCccagcagactgcgacacctg	6	4	12	19	2	0	1	0	0	0	1	0	2	0	1	6	2	4	2	6	2	0	0			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr20:30408169C>T	ENST00000375994.2	+	2	566	c.293C>T	c.(292-294)cCc>cTc	p.P98L	MYLK2_ENST00000375985.4_Missense_Mutation_p.P98L			Q9H1R3	MYLK2_HUMAN	myosin light chain kinase 2	98					cardiac muscle contraction (GO:0060048)|cardiac muscle tissue morphogenesis (GO:0055008)|neuromuscular synaptic transmission (GO:0007274)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of gene expression (GO:0010628)|protein autophosphorylation (GO:0046777)|regulation of muscle filament sliding (GO:0032971)|skeletal muscle cell differentiation (GO:0035914)|skeletal muscle satellite cell differentiation (GO:0014816)|striated muscle contraction (GO:0006941)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|calmodulin-dependent protein kinase activity (GO:0004683)|myosin light chain kinase activity (GO:0004687)			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	33			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			GCAGCCCTGCCCCAGCAGACT	0.687																																						ENST00000375994.2																			0				NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	33						c.(292-294)cCc>cTc		myosin light chain kinase 2							19	24	22					20																	30408169		2200	4291	6491	SO:0001583	missense	85366				cardiac muscle tissue morphogenesis|regulation of muscle filament sliding		ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity	g.chr20:30408169C>T	AF325549	CCDS13191.1	20q13.31	2014-09-17	2008-01-23		ENSG00000101306	ENSG00000101306	2.7.11.18		16243	protein-coding gene	gene with protein product	"skeletal muscle myosin light chain kinase"	606566	"myosin light chain kinase 2, skeletal muscle"				Standard	NM_033118		Approved	skMLCK, KMLC, MLCK2	uc002wwq.2	Q9H1R3	OTTHUMG00000032194	ENST00000375994.2:c.293C>T	20.37:g.30408169C>T	ENSP00000365162:p.Pro98Leu					MYLK2_ENST00000375985.4_Missense_Mutation_p.P98L	p.P98L			Q9H1R3	MYLK2_HUMAN	Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)		2	566	+			98					Q569L1|Q96I84	Missense_Mutation	SNP	ENST00000375994.2	37	c.293C>T	CCDS13191.1	.	.	.	.	.	.	.	.	.	.	C	17.65	3.441381	0.63067	.	.	ENSG00000101306	ENST00000375994;ENST00000375985	T;T	0.67865	-0.29;-0.29	4.7	3.76	0.43208	.	.	.	.	.	T	0.54191	0.1843	L	0.36672	1.1	0.43637	D	0.996031	B	0.18310	0.027	B	0.15052	0.012	T	0.54309	-0.8313	9	0.66056	D	0.02	.	8.7103	0.34380	0.0:0.8975:0.0:0.1025	.	98	Q9H1R3	MYLK2_HUMAN	L	98	ENSP00000365162:P98L;ENSP00000365152:P98L	ENSP00000365152:P98L	P	+	2	0	MYLK2	29871830	0.990000	0.36364	0.999000	0.59377	0.720000	0.41350	2.364000	0.44187	1.207000	0.43291	0.561000	0.74099	CCC		0.687	MYLK2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078583.2	NM_033118		7	40	0	0	0	1	0	7	40					T	30408169	C	T	30408169	3	4	228	1	0	0	0	0	1	0	0	0	10057	623	22	3	299	3	MYLK2	20	30408169	Missense_Mutation	SNP	C	TCGA-HC-8216-01A-11D-A29Q-08	12998086	30408169	32617351	142	10616											
MYLK2	85366	broad.mit.edu	37	chr20	30409476	30409476	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttccaggctgttccctcagaGaaatccgaggtggggcaggc	8	8	14	11	1	1	1	1	0	0	1	4	3	4	1	3	5	0	3	3	5	1	2			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr20:30409476G>T	ENST00000375994.2	+	3	981	c.708G>T	c.(706-708)gaG>gaT	p.E236D	MYLK2_ENST00000375985.4_Missense_Mutation_p.E236D			Q9H1R3	MYLK2_HUMAN	myosin light chain kinase 2	236					cardiac muscle contraction (GO:0060048)|cardiac muscle tissue morphogenesis (GO:0055008)|neuromuscular synaptic transmission (GO:0007274)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of gene expression (GO:0010628)|protein autophosphorylation (GO:0046777)|regulation of muscle filament sliding (GO:0032971)|skeletal muscle cell differentiation (GO:0035914)|skeletal muscle satellite cell differentiation (GO:0014816)|striated muscle contraction (GO:0006941)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|calmodulin-dependent protein kinase activity (GO:0004683)|myosin light chain kinase activity (GO:0004687)			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	33			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			TTCCCTCAGAGAAATCCGAGG	0.632																																						ENST00000375994.2																			0				NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	33						c.(706-708)gaG>gaT		myosin light chain kinase 2							87	97	94					20																	30409476		2203	4300	6503	SO:0001583	missense	85366				cardiac muscle tissue morphogenesis|regulation of muscle filament sliding		ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity	g.chr20:30409476G>T	AF325549	CCDS13191.1	20q13.31	2014-09-17	2008-01-23		ENSG00000101306	ENSG00000101306	2.7.11.18		16243	protein-coding gene	gene with protein product	"skeletal muscle myosin light chain kinase"	606566	"myosin light chain kinase 2, skeletal muscle"				Standard	NM_033118		Approved	skMLCK, KMLC, MLCK2	uc002wwq.2	Q9H1R3	OTTHUMG00000032194	ENST00000375994.2:c.708G>T	20.37:g.30409476G>T	ENSP00000365162:p.Glu236Asp					MYLK2_ENST00000375985.4_Missense_Mutation_p.E236D	p.E236D			Q9H1R3	MYLK2_HUMAN	Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)		3	981	+			236					Q569L1|Q96I84	Missense_Mutation	SNP	ENST00000375994.2	37	c.708G>T	CCDS13191.1	.	.	.	.	.	.	.	.	.	.	G	13.47	2.247045	0.39697	.	.	ENSG00000101306	ENST00000375994;ENST00000375985	T;T	0.68181	-0.31;-0.31	4.82	3.79	0.43588	.	.	.	.	.	T	0.59555	0.2202	M	0.65975	2.015	0.29698	N	0.840436	B	0.17465	0.022	B	0.14023	0.01	T	0.50575	-0.8812	9	0.20519	T	0.43	.	7.1679	0.25702	0.1228:0.0:0.8772:0.0	.	236	Q9H1R3	MYLK2_HUMAN	D	236	ENSP00000365162:E236D;ENSP00000365152:E236D	ENSP00000365152:E236D	E	+	3	2	MYLK2	29873137	0.977000	0.34250	0.983000	0.44433	0.976000	0.68499	2.885000	0.48570	2.516000	0.84829	0.561000	0.74099	GAG		0.632	MYLK2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078583.2	NM_033118		22	118	1	0	4.26978e-12	1	5.22525e-12	22	118					T	30409476	G	T	30409476	3	4	228	1	0	0	0	0	1	0	0	0	10057	933	33	5	718	5	MYLK2	20	30409476	Missense_Mutation	SNP	G	TCGA-HC-8216-01A-11D-A29Q-08	1307	30409476	32616044	143	10617											
KIF3B	9371	broad.mit.edu	37	chr20	30897748	30897748	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcccatgaaatgcccaagacCttcacctttgatgccgtcta	10	10	7	14	1	2	3	1	2	1	1	2	3	2	3	5	0	2	0	5	0	3	3			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr20:30897748C>G	ENST00000375712.3	+	2	335	c.168C>G	c.(166-168)acC>acG	p.T56T	KIF3B_ENST00000418717.2_5'Flank	NM_004798.3	NP_004789.1	O15066	KIF3B_HUMAN	kinesin family member 3B	56	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				anterograde axon cargo transport (GO:0008089)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cytoskeleton-dependent intracellular transport (GO:0030705)|determination of left/right symmetry (GO:0007368)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic centrosome separation (GO:0007100)|mitotic spindle organization (GO:0007052)|plus-end-directed vesicle transport along microtubule (GO:0072383)|spindle assembly involved in mitosis (GO:0090307)	centrosome (GO:0005813)|cilium (GO:0005929)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intraciliary transport particle (GO:0030990)|kinesin II complex (GO:0016939)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|midbody (GO:0030496)|plus-end kinesin complex (GO:0005873)|spindle (GO:0005819)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)|Rho GTPase binding (GO:0017048)			NS(2)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(5)|lung(9)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	36			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			TGCCCAAGACCTTCACCTTTG	0.498																																						ENST00000375712.3																			0				NS(2)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(5)|lung(9)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	36						c.(166-168)acC>acG		kinesin family member 3B							160	136	144					20																	30897748		2203	4300	6503	SO:0001819	synonymous_variant	9371				anterograde axon cargo transport|blood coagulation|determination of left/right symmetry|mitotic centrosome separation|plus-end-directed vesicle transport along microtubule|spindle assembly involved in mitosis	centrosome|cytosol|kinesin II complex|plus-end kinesin complex|spindle microtubule	ATP binding|plus-end-directed microtubule motor activity|Rho GTPase binding	g.chr20:30897748C>G	AB002357	CCDS13200.1	20q11.21	2012-08-01			ENSG00000101350	ENSG00000101350		"Kinesins"	6320	protein-coding gene	gene with protein product		603754				9205841	Standard	NM_004798		Approved	KIAA0359, FLA8, KLP-11	uc002wxq.3	O15066	OTTHUMG00000032214	ENST00000375712.3:c.168C>G	20.37:g.30897748C>G							p.T56T	NM_004798.3	NP_004789.1	O15066	KIF3B_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)		2	335	+			56			Kinesin-motor.		B2RMP4|B4DSR5|E1P5M5	Silent	SNP	ENST00000375712.3	37	c.168C>G	CCDS13200.1																																																																																				0.498	KIF3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078619.1	NM_004798		5	61	0	0	0	1	0	5	61					G	30897748	C	G	30897748	2	3	228	1	0	0	0	0	0	0	0	1	8301	668	24	5		5	KIF3B	20	30897748	Silent	SNP	C	TCGA-HC-8216-01A-11D-A29Q-08	488272	30897748	32127772	144	10618											
JPH2	57158	broad.mit.edu	37	chr20	42747201	42747201	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagtgcgagcaatgttggacTcctggttggcagccagggcg	8	8	16	9	2	0	0	0	0	0	0	1	2	1	1	2	4	3	4	2	4	2	2			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr20:42747201T>C	ENST00000372980.3	-	3	2104	c.1232A>G	c.(1231-1233)gAg>gGg	p.E411G		NM_020433.4	NP_065166.2	Q9BR39	JPH2_HUMAN	junctophilin 2	411					calcium ion homeostasis (GO:0055074)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport into cytosol (GO:0060402)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|regulation of cardiac muscle tissue development (GO:0055024)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|Z disc (GO:0030018)	calcium-release channel activity (GO:0015278)|phosphatidic acid binding (GO:0070300)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylinositol-4-phosphate binding (GO:0070273)|phosphatidylinositol-5-phosphate binding (GO:0010314)|phosphatidylserine binding (GO:0001786)			NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(19)|prostate(1)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			AATGTTGGACTCCTGGTTGGC	0.612																																						ENST00000372980.3																			0				NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(19)|prostate(1)|upper_aerodigestive_tract(1)	32						c.(1231-1233)gAg>gGg		junctophilin 2							101	103	102					20																	42747201		2203	4300	6503	SO:0001583	missense	57158				calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane|plasma membrane		g.chr20:42747201T>C	AL034419	CCDS13325.1, CCDS13326.1	20q12-q13.11	2014-09-17			ENSG00000149596	ENSG00000149596			14202	protein-coding gene	gene with protein product		605267				10891348, 10949023	Standard	XM_006723832		Approved	JP-2	uc002xli.1	Q9BR39	OTTHUMG00000033037	ENST00000372980.3:c.1232A>G	20.37:g.42747201T>C	ENSP00000362071:p.Glu411Gly						p.E411G	NM_020433.4	NP_065166.2	Q9BR39	JPH2_HUMAN	COAD - Colon adenocarcinoma(18;0.00189)		3	2104	-		Myeloproliferative disorder(115;0.0122)	411					E1P5X1|O95913|Q5JY74|Q9UJN4	Missense_Mutation	SNP	ENST00000372980.3	37	c.1232A>G	CCDS13325.1	.	.	.	.	.	.	.	.	.	.	T	26.4	4.738586	0.89573	.	.	ENSG00000149596	ENST00000372980	T	0.65549	-0.16	4.78	4.78	0.61160	.	0.000000	0.85682	D	0.000000	T	0.78515	0.4295	M	0.79123	2.44	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.81711	-0.0808	10	0.87932	D	0	.	13.311	0.60380	0.0:0.0:0.0:1.0	.	411	Q9BR39	JPH2_HUMAN	G	411	ENSP00000362071:E411G	ENSP00000362071:E411G	E	-	2	0	JPH2	42180615	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	7.170000	0.77587	1.784000	0.52394	0.459000	0.35465	GAG		0.612	JPH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080307.1			7	191	0	0	0	1	0	7	191					C	42747201	T	C	42747201	3	2	228	1	0	0	0	0	1	0	0	0	7961	1551	54	4	870	4	JPH2	20	42747201	Missense_Mutation	SNP	T	TCGA-HC-8216-01A-11D-A29Q-08	11849453	42747201	20278319	145	10619											
CTSZ	1522	broad.mit.edu	37	chr20	57576623	57576623	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cccccttcacaggagccagcGttaccgcagtcgatgacgtt	8	8	10	15	4	1	1	1	1	0	0	2	3	1	2	4	1	3	3	4	1	1	3			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr20:57576623G>A	ENST00000217131.5	-	3	502	c.384C>T	c.(382-384)aaC>aaT	p.N128N		NM_001336.3	NP_001327.2	Q9UBR2	CATZ_HUMAN	cathepsin Z	128					angiotensin maturation (GO:0002003)|cellular protein metabolic process (GO:0044267)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|proteolysis (GO:0006508)	endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|lysosome (GO:0005764)|plasma membrane (GO:0005886)	cysteine-type peptidase activity (GO:0008234)			cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)	10	all_lung(29;0.00711)		Colorectal(105;0.109)			AGGAGCCAGCGTTACCGCAGT	0.602																																						ENST00000217131.5																			0				cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)	10						c.(382-384)aaC>aaT		cathepsin Z							223	159	181					20																	57576623		2203	4300	6503	SO:0001819	synonymous_variant	1522				proteolysis	endoplasmic reticulum|extracellular space|lysosome	cysteine-type endopeptidase activity	g.chr20:57576623G>A	AF032906	CCDS13474.1	20q13.32	2012-02-10			ENSG00000101160	ENSG00000101160		"Cathepsins"	2547	protein-coding gene	gene with protein product	"cathepsin X", "carboxypeptidase LB", "cathepsin IV", "cathepsin B2", "cathepsin Y", "cathepsin Z1", "cysteine-type carboxypeptidase", "lysosomal carboxypeptidase B"	603169				9642240	Standard	NM_001336		Approved	CTSX	uc002yai.2	Q9UBR2	OTTHUMG00000032858	ENST00000217131.5:c.384C>T	20.37:g.57576623G>A							p.N128N	NM_001336.3	NP_001327.2	Q9UBR2	CATZ_HUMAN	Colorectal(105;0.109)		3	502	-	all_lung(29;0.00711)		128					B2RC40|O75331|Q9UQV5|Q9UQV6	Silent	SNP	ENST00000217131.5	37	c.384C>T	CCDS13474.1																																																																																				0.602	CTSZ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079899.1	NM_001336		4	73	0	0	0	1	0	4	73					A	57576623	G	A	57576623	2	1	228	1	0	0	0	0	0	0	0	1	4043	1136	40	1		1	CTSZ	20	57576623	Silent	SNP	G	TCGA-HC-8216-01A-11D-A29Q-08	14829422	57576623	5448897	146	10620											
SLC17A9	63910	broad.mit.edu	37	chr20	61596500	61596500	+	Silent	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtaggttacagagccatcacGgtgcggaagctcatgcaggt	10	8	14	9	2	2	1	2	0	0	1	2	2	2	2	1	4	5	4	1	4	3	2	rs370727216		TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr20:61596500G>C	ENST00000370351.4	+	9	1058	c.927G>C	c.(925-927)acG>acC	p.T309T	SLC17A9_ENST00000488738.1_3'UTR|SLC17A9_ENST00000370349.3_Silent_p.T303T	NM_022082.3	NP_071365	Q9BYT1	S17A9_HUMAN	solute carrier family 17 (vesicular nucleotide transporter), member 9	309					exocytosis (GO:0006887)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)	transporter activity (GO:0005215)			endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	23						GAGCCATCACGGTGCGGAAGC	0.587																																						ENST00000370349.3																			0				endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	23						c.(907-909)acG>acC		solute carrier family 17 (vesicular nucleotide transporter), member 9							87	92	90					20																	61596500		1963	4142	6105	SO:0001819	synonymous_variant	63910				exocytosis|transmembrane transport	integral to membrane	transporter activity	g.chr20:61596500G>C	AK027065	CCDS42901.1	20q13.33	2013-07-18	2013-07-18	2009-01-22	ENSG00000101194	ENSG00000101194		"Solute carriers"	16192	protein-coding gene	gene with protein product		612107	"chromosome 20 open reading frame 59", "solute carrier family 17, member 9"	C20orf59		18375752	Standard	NM_022082		Approved	FLJ23412, VNUT	uc002yea.4	Q9BYT1	OTTHUMG00000032951	ENST00000370351.4:c.927G>C	20.37:g.61596500G>C						SLC17A9_ENST00000370351.4_Silent_p.T309T|SLC17A9_ENST00000488738.1_3'UTR	p.T303T			Q9BYT1	S17A9_HUMAN			10	1113	+			309					B3KTF2|Q5W198|Q8TB07|Q8TBP4|Q8TEL5|Q9BYT0|Q9BYT2	Silent	SNP	ENST00000370351.4	37	c.909G>C	CCDS42901.1																																																																																				0.587	SLC17A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080100.1	NM_022082		4	68	0	0	0	1	0	4	68					C	61596500	G	C	61596500	2	2	228	1	0	0	0	0	0	0	0	1	14424	1103	39	5		5	SLC17A9	20	61596500	Silent	SNP	G	TCGA-HC-8216-01A-11D-A29Q-08	4019877	61596500	1429020	147	10621											
AGPAT3	56894	broad.mit.edu	37	chr21	45389131	45389131	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgtggtcgaagggctgaggCgcctgtcggactaccccgag	6	6	16	13	5	0	1	0	1	0	0	2	4	0	2	4	4	1	1	4	4	2	1			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr21:45389131C>T	ENST00000398063.2	+	4	973	c.481C>T	c.(481-483)Cgc>Tgc	p.R161C	AGPAT3_ENST00000291572.8_Missense_Mutation_p.R161C|AGPAT3_ENST00000546158.1_Missense_Mutation_p.R161C|AGPAT3_ENST00000398061.1_Missense_Mutation_p.R161C|AGPAT3_ENST00000479117.1_3'UTR|AGPAT3_ENST00000327505.2_Missense_Mutation_p.R161C|AGPAT3_ENST00000398058.1_Missense_Mutation_p.R161C	NM_001037553.1	NP_001032642.1	Q9NRZ7	PLCC_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 3	161					CDP-diacylglycerol biosynthetic process (GO:0016024)|cellular lipid metabolic process (GO:0044255)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidic acid biosynthetic process (GO:0006654)|phospholipid biosynthetic process (GO:0008654)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	1-acylglycerol-3-phosphate O-acyltransferase activity (GO:0003841)			large_intestine(4)|lung(5)|ovary(1)|prostate(1)	11				STAD - Stomach adenocarcinoma(101;0.18)|Colorectal(79;0.24)		AGGGCTGAGGCGCCTGTCGGA	0.637																																					Pancreas(60;623 1650 5574 52796)	ENST00000398063.2																			0				large_intestine(4)|lung(5)|ovary(1)|prostate(1)	11						c.(481-483)Cgc>Tgc		1-acylglycerol-3-phosphate O-acyltransferase 3							141	125	130					21																	45389131		2203	4300	6503	SO:0001583	missense	56894				phospholipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|plasma membrane	1-acylglycerol-3-phosphate O-acyltransferase activity	g.chr21:45389131C>T	AF156774	CCDS13703.1	21q22.3	2013-02-05			ENSG00000160216	ENSG00000160216	2.3.1.51	"1-acylglycerol-3-phosphate O-acyltransferases"	326	protein-coding gene	gene with protein product		614794					Standard	XM_005261159		Approved	LPAAT-gamma	uc002zdw.3	Q9NRZ7	OTTHUMG00000086892	ENST00000398063.2:c.481C>T	21.37:g.45389131C>T	ENSP00000381140:p.Arg161Cys					AGPAT3_ENST00000398061.1_Missense_Mutation_p.R161C|AGPAT3_ENST00000327505.2_Missense_Mutation_p.R161C|AGPAT3_ENST00000291572.8_Missense_Mutation_p.R161C|AGPAT3_ENST00000479117.1_3'UTR|AGPAT3_ENST00000546158.1_Missense_Mutation_p.R161C|AGPAT3_ENST00000398058.1_Missense_Mutation_p.R161C	p.R161C	NM_001037553.1	NP_001032642.1	Q9NRZ7	PLCC_HUMAN		STAD - Stomach adenocarcinoma(101;0.18)|Colorectal(79;0.24)	4	973	+			161					D3DSL2|Q3ZCU2|Q6UWP6|Q6ZUC6|Q8N3Q7|Q9NRZ6	Missense_Mutation	SNP	ENST00000398063.2	37	c.481C>T	CCDS13703.1	.	.	.	.	.	.	.	.	.	.	C	7.278	0.608515	0.14002	.	.	ENSG00000160216	ENST00000291572;ENST00000398061;ENST00000327505;ENST00000398063;ENST00000438598;ENST00000398058;ENST00000457068;ENST00000422850;ENST00000546158	D;D;D;D;D;D;D;D	0.93604	-3.25;-3.25;-3.25;-3.25;-3.25;-3.25;-3.25;-3.25	4.5	1.5	0.22942	Phospholipid/glycerol acyltransferase (2);	0.457836	0.24046	N	0.042054	D	0.87951	0.6307	L	0.46157	1.445	0.24018	N	0.996153	B;B	0.21147	0.052;0.01	B;B	0.17979	0.019;0.02	T	0.79313	-0.1855	10	0.62326	D	0.03	-26.8953	4.8609	0.13583	0.4099:0.4286:0.0:0.1615	.	181;161	Q9NRZ7-3;Q9NRZ7	.;PLCC_HUMAN	C	161	ENSP00000291572:R161C;ENSP00000381138:R161C;ENSP00000332989:R161C;ENSP00000381140:R161C;ENSP00000381135:R161C;ENSP00000413906:R161C;ENSP00000414440:R161C;ENSP00000443510:R161C	ENSP00000291572:R161C	R	+	1	0	AGPAT3	44213559	0.000000	0.05858	0.104000	0.21259	0.159000	0.22180	-0.360000	0.07622	0.348000	0.23949	0.491000	0.48974	CGC		0.637	AGPAT3-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195722.1	NM_020132		4	131	0	0	0	1	0	4	131					T	45389131	C	T	45389131	3	4	228	1	0	0	0	0	1	0	0	0	388	768	27	1	491	1	AGPAT3	21	45389131	Missense_Mutation	SNP	C	TCGA-HC-8216-01A-11D-A29Q-08		45389131	2740764	148	10622											
LZTR1	8216	broad.mit.edu	37	chr22	21349317	21349317	+	Splice_Site	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gaccagccagtggacattggTagggagccccgttccccttc	7	8	12	14	1	0	0	0	0	0	0	2	3	1	2	6	3	2	2	6	3	1	4			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr22:21349317T>G	ENST00000215739.8	+	16	2301		c.e16+2		LZTR1_ENST00000389355.3_Splice_Site|LZTR1_ENST00000479606.1_Splice_Site	NM_006767.3	NP_006758.2	Q8N653	LZTR1_HUMAN	leucine-zipper-like transcription regulator 1						anatomical structure morphogenesis (GO:0009653)|regulation of transcription, DNA-templated (GO:0006355)		sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)	42	all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)			TGGACATTGGTAGGGAGCCCC	0.647																																						ENST00000215739.8																			0				breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)	42						c.e16+2		leucine-zipper-like transcription regulator 1							41	44	43					22																	21349317		2203	4297	6500	SO:0001630	splice_region_variant	8216				anatomical structure morphogenesis		sequence-specific DNA binding transcription factor activity	g.chr22:21349317T>G	D38496	CCDS33606.1	22q11.21	2013-01-09	2004-12-10		ENSG00000099949	ENSG00000099949		"BTB/POZ domain containing"	6742	protein-coding gene	gene with protein product		600574	"leucine-zipper-like transcriptional regulator 1"			7633402, 16356934	Standard	NM_006767		Approved	LZTR-1, BTBD29	uc002zto.3	Q8N653	OTTHUMG00000150878	ENST00000215739.8:c.1942+2T>G	22.37:g.21349317T>G						LZTR1_ENST00000479606.1_Splice_Site|LZTR1_ENST00000389355.3_Splice_Site		NM_006767.3	NP_006758.2	Q8N653	LZTR1_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)		16	2301	+	all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)						Q14776|Q20WK0	Splice_Site	SNP	ENST00000215739.8	37		CCDS33606.1	.	.	.	.	.	.	.	.	.	.	T	10.11	1.261629	0.23051	.	.	ENSG00000099949	ENST00000539817;ENST00000215739;ENST00000389355	.	.	.	5.28	4.23	0.50019	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.5235	0.39149	0.0:0.0866:0.0:0.9134	.	.	.	.	.	-1	.	.	.	+	.	.	LZTR1	19679317	1.000000	0.71417	0.995000	0.50966	0.227000	0.25037	5.860000	0.69546	1.988000	0.58038	0.454000	0.30748	.		0.647	LZTR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320387.1	NM_006767	Intron	9	92	0	0	0	1	0	9	92					G	21349317	T	G	21349317	5	3	228	1	0	0	0	0	0	0	1	0	9137	1652	57	5	2006	5	LZTR1	22	21349317	Splice_Site	SNP	T	TCGA-HC-8216-01A-11D-A29Q-08		21349317	29955249	149	10623											
ARSE	415	broad.mit.edu	37	chrX	2876456	2876456	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtacagcgagcatcgctggcAgccagctcctgaaacacaaa	13	5	10	13	2	0	1	0	1	0	0	2	2	1	1	2	1	6	5	2	1	3	1			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chrX:2876456A>G	ENST00000381134.3	-	3	110	c.44T>C	c.(43-45)cTg>cCg	p.L15P	ARSE_ENST00000545496.1_Missense_Mutation_p.L40P|ARSE_ENST00000496095.1_5'UTR|ARSE_ENST00000540563.1_Intron	NM_000047.2	NP_000038.2	P51690	ARSE_HUMAN	arylsulfatase E (chondrodysplasia punctata 1)	15					cellular protein metabolic process (GO:0044267)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				CATCGCTGGCAGCCAGCTCCT	0.517																																						ENST00000545496.1																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						c.(118-120)cTg>cCg		arylsulfatase E (chondrodysplasia punctata 1)							78	55	63					X																	2876456		2203	4300	6503	SO:0001583	missense	415				skeletal system development	Golgi stack	arylsulfatase activity|metal ion binding	g.chrX:2876456A>G	X83573	CCDS14122.1, CCDS75948.1, CCDS75949.1	Xp22.33	2013-02-14			ENSG00000157399	ENSG00000157399		"Arylsulfatase family"	719	protein-coding gene	gene with protein product		300180		CDPX, CDPX1		7720070	Standard	NM_000047		Approved		uc004crc.4	P51690	OTTHUMG00000137358	ENST00000381134.3:c.44T>C	X.37:g.2876456A>G	ENSP00000370526:p.Leu15Pro					ARSE_ENST00000381134.3_Missense_Mutation_p.L15P|ARSE_ENST00000540563.1_Intron|ARSE_ENST00000496095.1_5'UTR	p.L40P			P51690	ARSE_HUMAN			4	410	-		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)	15					Q53FT2|Q53FU8	Missense_Mutation	SNP	ENST00000381134.3	37	c.119T>C	CCDS14122.1	.	.	.	.	.	.	.	.	.	.	A	13.96	2.393263	0.42410	.	.	ENSG00000157399	ENST00000545496;ENST00000381134;ENST00000438544	D;D;D	0.99586	-4.03;-4.02;-6.23	3.1	1.87	0.25490	.	4.873430	0.00951	N	0.002976	D	0.98595	0.9530	N	0.08118	0	0.09310	N	1	D;D	0.64830	0.994;0.971	P;P	0.57776	0.827;0.543	D	0.98329	1.0532	10	0.72032	D	0.01	.	6.0724	0.19897	0.7685:0.0:0.0:0.2315	.	40;15	F5GYY5;P51690	.;ARSE_HUMAN	P	40;15;15	ENSP00000441417:L40P;ENSP00000370526:L15P;ENSP00000406528:L15P	ENSP00000370526:L15P	L	-	2	0	ARSE	2886456	0.141000	0.22595	0.001000	0.08648	0.000000	0.00434	4.937000	0.63513	0.144000	0.18951	-0.391000	0.06502	CTG		0.517	ARSE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055643.1	NM_000047		4	31	0	0	0	1	0	4	31					G	2876456	A	G	2876456	3	3	228	1	0	0	0	0	1	0	0	0	990	188	7	4	1761	4	ARSE	23	2876456	Missense_Mutation	SNP	A	TCGA-HC-8216-01A-11D-A29Q-08		2876456	152394104	150	10624											
TFDP3	51270	broad.mit.edu	37	chrX	132351872	132351872	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgctggcagctctgaacttgGcgaccagctcgcccaccact	7	8	10	16	2	1	1	0	1	1	0	2	2	1	1	3	2	4	4	3	2	1	1			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chrX:132351872G>A	ENST00000310125.4	-	1	504	c.416C>T	c.(415-417)gCc>gTc	p.A139V		NM_016521.2	NP_057605.3	Q5H9I0	TFDP3_HUMAN	transcription factor Dp family, member 3	139					cellular response to DNA damage stimulus (GO:0006974)|G1/S transition of mitotic cell cycle (GO:0000082)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(2)|kidney(4)|large_intestine(1)|lung(8)|ovary(1)|prostate(2)	19	Acute lymphoblastic leukemia(192;0.000127)					TCTGAACTTGGCGACCAGCTC	0.552																																						ENST00000310125.4																			0				breast(1)|endometrium(2)|kidney(4)|large_intestine(1)|lung(8)|ovary(1)|prostate(2)	19						c.(415-417)gCc>gTc		transcription factor Dp family, member 3							87	80	82					X																	132351872		2202	4300	6502	SO:0001583	missense	51270					transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity	g.chrX:132351872G>A	AF219119	CCDS14636.2	Xq26.2	2009-03-25			ENSG00000183434	ENSG00000183434			24603	protein-coding gene	gene with protein product	"E2F-like protein", "cancer/testis antigen 30"	300772				12097419	Standard	NM_016521		Approved	HCA661, E2F-like, CT30	uc004exb.1	Q5H9I0	OTTHUMG00000022433	ENST00000310125.4:c.416C>T	X.37:g.132351872G>A	ENSP00000385461:p.Ala139Val						p.A139V	NM_016521.2	NP_057605.3	Q5H9I0	TFDP3_HUMAN			1	504	-	Acute lymphoblastic leukemia(192;0.000127)		139					Q6DK49|Q9NZ54	Missense_Mutation	SNP	ENST00000310125.4	37	c.416C>T	CCDS14636.2	.	.	.	.	.	.	.	.	.	.	g	11.58	1.682441	0.29872	.	.	ENSG00000183434	ENST00000310125	T	0.25912	1.77	0.226	0.226	0.15353	Transcription factor E2F/dimerisation partner (TDP) (1);Winged helix-turn-helix transcription repressor DNA-binding (1);	.	.	.	.	T	0.27349	0.0671	M	0.61703	1.905	0.80722	D	1	B	0.24651	0.108	B	0.35114	0.196	T	0.15636	-1.0430	9	0.72032	D	0.01	.	6.186	0.20498	4.0E-4:0.0:0.9996:0.0	.	139	Q5H9I0	TFDP3_HUMAN	V	139	ENSP00000385461:A139V	ENSP00000385461:A139V	A	-	2	0	TFDP3	132179538	1.000000	0.71417	0.050000	0.19076	0.051000	0.14879	6.475000	0.73582	0.283000	0.22279	0.287000	0.19450	GCC		0.552	TFDP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058337.1	NM_016521		4	47	0	0	0	1	0	4	47					A	132351872	G	A	132351872	3	1	228	1	0	0	0	0	1	0	0	0	15796	1203	42	3	805	3	TFDP3	23	132351872	Missense_Mutation	SNP	G	TCGA-HC-8216-01A-11D-A29Q-08	129475416	132351872	22918688	151	10625											
RBMX	27316	broad.mit.edu	37	chrX	135961213	135961213	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tggctgcatccttagcgtctGctgggctttcaaaggtgaca	7	12	12	10	1	2	1	1	1	1	0	3	1	3	1	1	3	3	4	1	3	2	2			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chrX:135961213G>T	ENST00000320676.7	-	3	333	c.179C>A	c.(178-180)gCa>gAa	p.A60E	RBMX_ENST00000431446.3_Missense_Mutation_p.A60E|RBMX_ENST00000562646.1_Missense_Mutation_p.A60E|RBMX_ENST00000565438.1_Intron|SNORD61_ENST00000384252.1_RNA|RBMX_ENST00000570135.1_5'UTR	NM_002139.3	NP_002130.2	P38159	RBMX_HUMAN	RNA binding motif protein, X-linked	60	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.				cellular response to interleukin-1 (GO:0071347)|gene expression (GO:0010467)|membrane protein ectodomain proteolysis (GO:0006509)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|osteoblast differentiation (GO:0001649)|positive regulation of mRNA splicing, via spliceosome (GO:0048026)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein homooligomerization (GO:0051260)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing (GO:0008380)|transcription from RNA polymerase II promoter (GO:0006366)	catalytic step 2 spliceosome (GO:0071013)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear euchromatin (GO:0005719)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|supraspliceosomal complex (GO:0044530)	chromatin binding (GO:0003682)|core promoter binding (GO:0001047)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(2)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|urinary_tract(1)	33	Acute lymphoblastic leukemia(192;0.000127)					CTTAGCGTCTGCTGGGCTTTC	0.383																																						ENST00000562646.1																			0				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(2)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|urinary_tract(1)	33						c.(178-180)gCa>gAa		RNA binding motif protein, X-linked							155	133	140					X																	135961213		2203	4300	6503	SO:0001583	missense	27316					catalytic step 2 spliceosome|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|RNA binding	g.chrX:135961213G>T		CCDS14661.1, CCDS55510.1	Xq26	2013-05-23	2003-09-12		ENSG00000147274	ENSG00000147274		"RNA binding motif (RRM) containing"	9910	protein-coding gene	gene with protein product	"heterogeneous nuclear ribonucleoprotein G"	300199	"RNA binding motif protein, X chromosome"			10391206, 10391207	Standard	NM_002139		Approved	RNMX, hnRNP-G, HNRNPG	uc004fae.2	P38159	OTTHUMG00000022517	ENST00000320676.7:c.179C>A	X.37:g.135961213G>T	ENSP00000359645:p.Ala60Glu					RBMX_ENST00000570135.1_5'UTR|RBMX_ENST00000320676.7_Missense_Mutation_p.A60E|RBMX_ENST00000565438.1_Intron|RBMX_ENST00000431446.3_Missense_Mutation_p.A60E	p.A60E			P38159	HNRPG_HUMAN			3	333	-	Acute lymphoblastic leukemia(192;0.000127)		60			RRM.		B4E3U4|D3DWH0|E9PG86|Q5JQ67|Q8N8Y7|Q969R3	Missense_Mutation	SNP	ENST00000320676.7	37	c.179C>A	CCDS14661.1	.	.	.	.	.	.	.	.	.	.	.	4.649	0.120559	0.08881	.	.	ENSG00000147274	ENST00000431446;ENST00000320676;ENST00000449161	D;D	0.83506	-1.73;-1.73	4.57	3.71	0.42584	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.232870	0.33834	U	0.004510	T	0.64461	0.2600	N	0.02865	-0.47	0.80722	D	1	B;B;B	0.23185	0.081;0.005;0.001	B;B;B	0.31869	0.137;0.01;0.005	T	0.56492	-0.7970	10	0.32370	T	0.25	.	9.3856	0.38340	0.0:0.1534:0.684:0.1626	.	60;60;47	B4E3U4;P38159;Q8N8Y7	.;HNRPG_HUMAN;.	E	60;60;47	ENSP00000411989:A60E;ENSP00000359645:A60E	ENSP00000359645:A60E	A	-	2	0	RBMX	135788879	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	5.164000	0.64954	0.746000	0.32786	-0.282000	0.10007	GCA		0.383	RBMX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058507.1	NM_002139		5	100	1	0	1	1	1	5	100					T	135961213	G	T	135961213	3	4	228	1	0	0	0	0	1	0	0	0	13151	1319	46	5	1079	5	RBMX	23	135961213	Missense_Mutation	SNP	G	TCGA-HC-8216-01A-11D-A29Q-08	3609341	135961213	19309347	152	10626											
FBXO42	54455	broad.mit.edu	37	chr1	16577179	16577179	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aacacattatctctttgctcGtacaaagtacaaggcgtttg	12	13	7	9	2	1	0	0	0	1	0	3	0	1	0	0	1	4	4	0	1	6	5			TCGA-HC-8256-01A-11D-2260-08	TCGA-HC-8256-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e9272d1-8ef5-42c5-933e-c466a8f22479	f1e42f84-82bb-4e9a-9093-d8dc73dc6653	g.chr1:16577179G>A	ENST00000375592.3	-	10	2356	c.2140C>T	c.(2140-2142)Cga>Tga	p.R714*		NM_018994.1	NP_061867.1	Q6P3S6	FBX42_HUMAN	F-box protein 42	714										autonomic_ganglia(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	26		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00475)|all_lung(284;0.00671)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0193)|Colorectal(212;3.16e-07)|COAD - Colon adenocarcinoma(227;1.46e-05)|BRCA - Breast invasive adenocarcinoma(304;4.37e-05)|Kidney(64;0.000246)|KIRC - Kidney renal clear cell carcinoma(64;0.00336)|STAD - Stomach adenocarcinoma(313;0.0139)|READ - Rectum adenocarcinoma(331;0.0693)		CTCTTTGCTCGTACAAAGTAC	0.398																																						ENST00000375592.3																			0				autonomic_ganglia(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	26						c.(2140-2142)Cga>Tga		F-box protein 42							136	131	133					1																	16577179		2203	4300	6503	SO:0001587	stop_gained	54455							g.chr1:16577179G>A	BC063864	CCDS30613.1	1p36.23-p36.11	2008-02-05			ENSG00000037637	ENSG00000037637		"F-boxes /  "other""	29249	protein-coding gene	gene with protein product		609109				10718198	Standard	XM_006710698		Approved	KIAA1332, Fbx42	uc001ayg.3	Q6P3S6	OTTHUMG00000002218	ENST00000375592.3:c.2140C>T	1.37:g.16577179G>A	ENSP00000364742:p.Arg714*						p.R714*	NM_018994.1	NP_061867.1	Q6P3S6	FBX42_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0193)|Colorectal(212;3.16e-07)|COAD - Colon adenocarcinoma(227;1.46e-05)|BRCA - Breast invasive adenocarcinoma(304;4.37e-05)|Kidney(64;0.000246)|KIRC - Kidney renal clear cell carcinoma(64;0.00336)|STAD - Stomach adenocarcinoma(313;0.0139)|READ - Rectum adenocarcinoma(331;0.0693)	10	2356	-		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00475)|all_lung(284;0.00671)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)	714					B3KP30|Q5TEU8|Q86XI0|Q8N3N4|Q8N5F8|Q9BRM0|Q9P2L4	Nonsense_Mutation	SNP	ENST00000375592.3	37	c.2140C>T	CCDS30613.1	.	.	.	.	.	.	.	.	.	.	G	39	7.877589	0.98539	.	.	ENSG00000037637	ENST00000375592	.	.	.	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-9.1812	18.7864	0.91957	0.0:0.0:1.0:0.0	.	.	.	.	X	714	.	ENSP00000364742:R714X	R	-	1	2	FBXO42	16449766	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.360000	0.73064	2.767000	0.95098	0.655000	0.94253	CGA		0.398	FBXO42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006285.1			3	91	0	0	0	1	0	3	91					A	16577179	G	A	16577179	4	1	229	1	0	0	0	0	0	1	0	0	5751	1153	40	1	17	1	FBXO42	1	16577179	Nonsense_Mutation	SNP	G	TCGA-HC-8256-01A-11D-2260-08		16577179	232673442	1	10627											
NBPF1	55672	broad.mit.edu	37	chr1	16890543	16890543	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgaagctgatgtgctgttcCtcaaatgagtaaaacacact	13	10	9	9	1	1	2	1	2	0	0	2	3	2	2	1	0	3	4	1	0	4	2			TCGA-HC-8256-01A-11D-2260-08	TCGA-HC-8256-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e9272d1-8ef5-42c5-933e-c466a8f22479	f1e42f84-82bb-4e9a-9093-d8dc73dc6653	g.chr1:16890543C>G	ENST00000430580.2	-	29	4202	c.3315G>C	c.(3313-3315)gaG>gaC	p.E1105D		NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1	1085	NBPF 7. {ECO:0000255|PROSITE- ProRule:PRU00647}.					cytoplasm (GO:0005737)									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		TGTGCTGTTCCTCAAATGAGT	0.453																																						ENST00000430580.2																			0											c.(3313-3315)gaG>gaC		neuroblastoma breakpoint family, member 1							742	639	674					1																	16890543		2203	4298	6501	SO:0001583	missense	55672					cytoplasm		g.chr1:16890543C>G	AB051480		1p36.13	2013-01-30			ENSG00000219481	ENSG00000219481		"neuroblastoma breakpoint family"	26088	protein-coding gene	gene with protein product		610501				11214970, 16079250	Standard	NM_017940		Approved	FLJ20719, KIAA1693	uc001ayw.4	Q3BBV0	OTTHUMG00000002487	ENST00000430580.2:c.3315G>C	1.37:g.16890543C>G	ENSP00000474456:p.Glu1105Asp						p.E1105D	NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)	29	4202	-			1085			NBPF 7.		Q8N4E8|Q9C0H0	Missense_Mutation	SNP	ENST00000430580.2	37	c.3315G>C																																																																																					0.453	NBPF1-005	NOVEL	upstream_uORF|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000106436.3	NM_017940		52	770	0	0	0	1	0	52	770					G	16890543	C	G	16890543	3	3	229	1	0	0	0	0	1	0	0	0	10192	680	24	5	108	5	NBPF1	1	16890543	Missense_Mutation	SNP	C	TCGA-HC-8256-01A-11D-2260-08	313364	16890543	232360078	2	10628											
DENND4B	9909	broad.mit.edu	37	chr1	153907309	153907309	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgctgctgctgctgctgttgCtgctgctgctgctgttgccg	0	15	14	12	1	0	0	0	0	0	0	0	0	0	0	1	0	11	12	1	0	0	2			TCGA-HC-8256-01A-11D-2260-08	TCGA-HC-8256-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e9272d1-8ef5-42c5-933e-c466a8f22479	f1e42f84-82bb-4e9a-9093-d8dc73dc6653	g.chr1:153907309C>T	ENST00000361217.4	-	18	3118	c.2700G>A	c.(2698-2700)caG>caA	p.Q900Q	DENND4B_ENST00000474386.1_5'Flank	NM_014856.2	NP_055671.2	O75064	DEN4B_HUMAN	DENN/MADD domain containing 4B	900	Gln-rich.				positive regulation of Rab GTPase activity (GO:0032851)|regulation of Rab protein signal transduction (GO:0032483)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)	p.Q788Q(1)|p.Q900Q(1)		NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	36	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			gctgctgttgctgctgctgct	0.642																																						ENST00000361217.4																			2	Substitution - coding silent(2)	p.Q788Q(1)|p.Q900Q(1)	lung(2)	NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	36						c.(2698-2700)caG>caA		DENN/MADD domain containing 4B							33	42	39					1																	153907309		2187	4283	6470	SO:0001819	synonymous_variant	9909							g.chr1:153907309C>T	AB007945	CCDS44228.1	1q21.3	2012-10-03	2006-01-27	2006-01-27	ENSG00000198837	ENSG00000198837		"DENN/MADD domain containing"	29044	protein-coding gene	gene with protein product			"KIAA0476"	KIAA0476		9455484, 12906859	Standard	NM_014856		Approved		uc001fdd.1	O75064	OTTHUMG00000037157	ENST00000361217.4:c.2700G>A	1.37:g.153907309C>T							p.Q900Q	NM_014856.2	NP_055671.2	O75064	DEN4B_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.151)		18	3118	-	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		900			Gln-rich.		Q5T4K0	Silent	SNP	ENST00000361217.4	37	c.2700G>A	CCDS44228.1																																																																																				0.642	DENND4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090278.2	XM_375806		3	46	0	0	0	1	0	3	46					T	153907309	C	T	153907309	2	4	229	1	0	0	0	0	0	0	0	1	4434	796	28	3		3	DENND4B	1	153907309	Silent	SNP	C	TCGA-HC-8256-01A-11D-2260-08	137016766	153907309	95343312	3	10629											
OR10Z1	128368	broad.mit.edu	37	chr1	158577018	158577018	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgtgtacctgaggcccaaaGccagctactctcttgagaga	10	9	10	12	1	1	3	0	2	1	1	3	4	1	3	3	1	4	2	3	1	3	3			TCGA-HC-8256-01A-11D-2260-08	TCGA-HC-8256-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e9272d1-8ef5-42c5-933e-c466a8f22479	f1e42f84-82bb-4e9a-9093-d8dc73dc6653	g.chr1:158577018G>A	ENST00000361284.1	+	1	790	c.790G>A	c.(790-792)Gcc>Acc	p.A264T		NM_001004478.1	NP_001004478.1	Q8NGY1	O10Z1_HUMAN	olfactory receptor, family 10, subfamily Z, member 1	264						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|large_intestine(6)|lung(21)|pancreas(1)|prostate(3)|skin(4)	37	all_hematologic(112;0.0378)					GAGGCCCAAAGCCAGCTACTC	0.483																																						ENST00000361284.1																			0				endometrium(2)|large_intestine(6)|lung(21)|pancreas(1)|prostate(3)|skin(4)	37						c.(790-792)Gcc>Acc		olfactory receptor, family 10, subfamily Z, member 1							214	217	216					1																	158577018		2203	4300	6503	SO:0001583	missense	128368				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158577018G>A	AB065635	CCDS30901.1	1q23.1	2012-08-23			ENSG00000198967	ENSG00000198967		"GPCR / Class A : Olfactory receptors"	14996	protein-coding gene	gene with protein product							Standard	NM_001004478		Approved		uc010pio.2	Q8NGY1	OTTHUMG00000019637	ENST00000361284.1:c.790G>A	1.37:g.158577018G>A	ENSP00000354707:p.Ala264Thr						p.A264T	NM_001004478.1	NP_001004478.1	Q8NGY1	O10Z1_HUMAN			1	790	+	all_hematologic(112;0.0378)		264					Q5VYL0|Q6IFR7	Missense_Mutation	SNP	ENST00000361284.1	37	c.790G>A	CCDS30901.1	.	.	.	.	.	.	.	.	.	.	G	13.11	2.139536	0.37728	.	.	ENSG00000198967	ENST00000361284	T	0.00099	8.73	5.05	1.96	0.26148	GPCR, rhodopsin-like superfamily (1);	0.449678	0.16668	N	0.204473	T	0.00039	0.0001	L	0.31420	0.93	0.09310	N	1	B	0.10296	0.003	B	0.12837	0.008	T	0.43065	-0.9414	10	0.52906	T	0.07	.	4.2196	0.10551	0.1776:0.0:0.3591:0.4634	.	264	Q8NGY1	O10Z1_HUMAN	T	264	ENSP00000354707:A264T	ENSP00000354707:A264T	A	+	1	0	OR10Z1	156843642	0.000000	0.05858	0.995000	0.50966	0.933000	0.57130	-0.174000	0.09839	0.230000	0.21059	0.650000	0.86243	GCC		0.483	OR10Z1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051853.1	NM_001004478		5	243	0	0	0	1	0	5	243					A	158577018	G	A	158577018	3	1	229	1	0	0	0	0	1	0	0	0	10923	971	34	3	792	3	OR10Z1	1	158577018	Missense_Mutation	SNP	G	TCGA-HC-8256-01A-11D-2260-08	4669709	158577018	90673603	4	10630											
XPR1	9213	broad.mit.edu	37	chr1	180793908	180793908	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgtatttaaacttgaaacAgatagaagtatatggccctt	14	13	8	6	0	0	3	0	1	0	2	0	3	0	3	1	1	2	3	1	1	8	8			TCGA-HC-8256-01A-11D-2260-08	TCGA-HC-8256-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e9272d1-8ef5-42c5-933e-c466a8f22479	f1e42f84-82bb-4e9a-9093-d8dc73dc6653	g.chr1:180793908A>T	ENST00000367590.4	+	8	981	c.783A>T	c.(781-783)acA>acT	p.T261T	XPR1_ENST00000367589.3_Silent_p.T261T	NM_004736.3	NP_004727.2	Q9UBH6	XPR1_HUMAN	xenotropic and polytropic retrovirus receptor 1	261					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)|virus receptor activity (GO:0001618)			breast(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	35						AACTTGAAACAGATAGAAGTA	0.338																																						ENST00000367590.4																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	35						c.(781-783)acA>acT		xenotropic and polytropic retrovirus receptor 1							87	93	91					1																	180793908		2201	4298	6499	SO:0001819	synonymous_variant	9213					integral to plasma membrane	G-protein coupled receptor activity	g.chr1:180793908A>T	AF099082	CCDS1340.1, CCDS44284.1	1q25.1	2013-07-18	2010-04-23		ENSG00000143324	ENSG00000143324			12827	protein-coding gene	gene with protein product		605237	"xenotropic and polytropic retrovirus receptor"			9990033	Standard	NM_004736		Approved	SYG1, X3	uc001goi.3	Q9UBH6	OTTHUMG00000035116	ENST00000367590.4:c.783A>T	1.37:g.180793908A>T						XPR1_ENST00000367589.3_Silent_p.T261T	p.T261T	NM_004736.3	NP_004727.2	Q9UBH6	XPR1_HUMAN			8	981	+			261					O95719|Q7L8K9|Q8IW20|Q9NT19|Q9UFB9	Silent	SNP	ENST00000367590.4	37	c.783A>T	CCDS1340.1																																																																																				0.338	XPR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084996.2	NM_004736		10	43	0	0	0	1	0	10	43					T	180793908	A	T	180793908	2	4	229	1	0	0	0	0	0	0	0	1	17448	175	7	5		5	XPR1	1	180793908	Silent	SNP	A	TCGA-HC-8256-01A-11D-2260-08	22216890	180793908	68456713	5	10631											
POTEF	728378	broad.mit.edu	37	chr2	130877866	130877866	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcccacgttgctcttgccacTccccctgcagcaggggaagc	6	7	11	17	1	1	0	0	0	1	0	2	1	2	1	4	2	5	4	4	2	1	2			TCGA-HC-8256-01A-11D-2260-08	TCGA-HC-8256-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e9272d1-8ef5-42c5-933e-c466a8f22479	f1e42f84-82bb-4e9a-9093-d8dc73dc6653	g.chr2:130877866T>C	ENST00000409914.2	-	3	622	c.223A>G	c.(223-225)Agt>Ggt	p.S75G	POTEF_ENST00000357462.5_Missense_Mutation_p.S75G|POTEF_ENST00000360967.5_Missense_Mutation_p.S75G|POTEF_ENST00000361163.4_Missense_Mutation_p.S75G	NM_001099771.2	NP_001093241.1	A5A3E0	POTEF_HUMAN	POTE ankyrin domain family, member F	75					retina homeostasis (GO:0001895)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(28)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	53						CTCTTGCCACTCCCCCTGCAG	0.592																																						ENST00000357462.5																			0				breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(28)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	53						c.(223-225)Agt>Ggt		POTE ankyrin domain family, member F							79	110	100					2																	130877866		2197	4296	6493	SO:0001583	missense	728378					cell cortex	ATP binding	g.chr2:130877866T>C	EF523384	CCDS46409.1	2q21.1	2013-01-10	2008-11-26	2008-11-26	ENSG00000196604	ENSG00000196604		"POTE ankyrin domain containing", "Ankyrin repeat domain containing"	33905	protein-coding gene	gene with protein product			"ANKRD26-like family C, member 1B"	A26C1B		17101985	Standard	NM_001099771		Approved	POTEACTIN, POTE2alpha	uc010fmh.2	A5A3E0	OTTHUMG00000153628	ENST00000409914.2:c.223A>G	2.37:g.130877866T>C	ENSP00000386786:p.Ser75Gly					POTEF_ENST00000361163.4_Missense_Mutation_p.S75G|POTEF_ENST00000409914.2_Missense_Mutation_p.S75G|POTEF_ENST00000360967.5_Missense_Mutation_p.S75G	p.S75G			A5A3E0	POTEF_HUMAN			1	316	-			75					A6NC34	Missense_Mutation	SNP	ENST00000409914.2	37	c.223A>G	CCDS46409.1	.	.	.	.	.	.	.	.	.	.	.	10.45	1.353098	0.24512	.	.	ENSG00000196604	ENST00000357462;ENST00000409914;ENST00000360967;ENST00000361163	T;T;T;T	0.79653	-1.29;-1.29;1.51;1.49	.	.	.	.	.	.	.	.	T	0.76513	0.3998	L	0.61218	1.895	0.09310	N	1	B	0.26041	0.14	B	0.32805	0.153	T	0.68792	-0.5315	7	0.87932	D	0	.	.	.	.	.	75	A5A3E0	POTEF_HUMAN	G	75	ENSP00000350052:S75G;ENSP00000386786:S75G;ENSP00000354232:S75G;ENSP00000355012:S75G	ENSP00000350052:S75G	S	-	1	0	POTEF	130594336	0.001000	0.12720	0.050000	0.19076	0.117000	0.20001	-1.119000	0.03276	0.129000	0.18514	0.128000	0.15822	AGT		0.592	POTEF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331889.2	NM_001099771		3	202	0	0	0	1	0	3	202					C	130877866	T	C	130877866	3	2	229	1	0	0	0	0	1	0	0	0	12265	1551	54	4	3064	4	POTEF	2	130877866	Missense_Mutation	SNP	T	TCGA-HC-8256-01A-11D-2260-08		130877866	112321507	6	10632											
NAALADL2	254827	broad.mit.edu	37	chr3	175041963	175041963	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tagcttgcttccctcttttaGctttcctcattggaaaaggc	7	16	7	11	0	2	0	1	0	1	0	4	1	4	1	2	2	3	3	2	2	4	7			TCGA-HC-8256-01A-11D-2260-08	TCGA-HC-8256-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e9272d1-8ef5-42c5-933e-c466a8f22479	f1e42f84-82bb-4e9a-9093-d8dc73dc6653	g.chr3:175041963G>T	ENST00000454872.1	+	5	1067		c.e5-1		NAALADL2_ENST00000473253.1_Splice_Site	NM_207015.2	NP_996898.2	Q58DX5	NADL2_HUMAN	N-acetylated alpha-linked acidic dipeptidase-like 2							integral component of membrane (GO:0016021)				central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(20)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	49	Ovarian(172;0.0102)	all_cancers(1;0.0272)|all_epithelial(1;0.0553)	OV - Ovarian serous cystadenocarcinoma(80;9.26e-28)	Colorectal(1;1.66e-10)|COAD - Colon adenocarcinoma(1;2.1e-07)|STAD - Stomach adenocarcinoma(1;0.00261)|READ - Rectum adenocarcinoma(3;0.0284)		CCCTCTTTTAGCTTTCCTCAT	0.378																																						ENST00000454872.1																			0				central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(20)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	49						c.e5-1		N-acetylated alpha-linked acidic dipeptidase-like 2							220	212	215					3																	175041963		1849	4092	5941	SO:0001630	splice_region_variant	254827				proteolysis	integral to membrane	peptidase activity	g.chr3:175041963G>T		CCDS46960.1	3q26.3	2011-08-16			ENSG00000177694	ENSG00000177694			23219	protein-coding gene	gene with protein product	"glutamate carboxypeptidase II-type non-peptidase homologue"	608806				15168106	Standard	NM_207015		Approved		uc003fir.3	Q58DX5	OTTHUMG00000157120	ENST00000454872.1:c.940-1G>T	3.37:g.175041963G>T						NAALADL2_ENST00000473253.1_Splice_Site		NM_207015.2	NP_996898.2	Q58DX5	NADL2_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;9.26e-28)	Colorectal(1;1.66e-10)|COAD - Colon adenocarcinoma(1;2.1e-07)|STAD - Stomach adenocarcinoma(1;0.00261)|READ - Rectum adenocarcinoma(3;0.0284)	5	1067	+	Ovarian(172;0.0102)	all_cancers(1;0.0272)|all_epithelial(1;0.0553)						Q658X9|Q6H9J8|Q6H9J9|Q6PG38	Splice_Site	SNP	ENST00000454872.1	37		CCDS46960.1	.	.	.	.	.	.	.	.	.	.	G	15.71	2.914013	0.52546	.	.	ENSG00000177694	ENST00000454872	.	.	.	5.41	4.53	0.55603	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.9612	0.64180	0.0:0.0:0.8482:0.1518	.	.	.	.	.	-1	.	.	.	+	.	.	NAALADL2	176524657	1.000000	0.71417	0.998000	0.56505	0.710000	0.40934	7.038000	0.76537	1.493000	0.48517	0.563000	0.77884	.		0.378	NAALADL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347390.2	NM_207015	Intron	5	173	1	0	0.0293803	1	0.0309543	5	173					T	175041963	G	T	175041963	5	4	229	1	0	0	0	0	0	0	1	0	10130	985	34	5	957	5	NAALADL2	3	175041963	Splice_Site	SNP	G	TCGA-HC-8256-01A-11D-2260-08		175041963	22980467	7	10633											
ATP13A5	344905	broad.mit.edu	37	chr3	193051645	193051645	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgtatagtttgaagttcagaGgccgggggtacaggatggat	10	11	16	4	1	1	2	1	1	0	1	1	4	1	4	1	5	1	4	1	5	4	5			TCGA-HC-8256-01A-11D-2260-08	TCGA-HC-8256-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e9272d1-8ef5-42c5-933e-c466a8f22479	f1e42f84-82bb-4e9a-9093-d8dc73dc6653	g.chr3:193051645G>A	ENST00000342358.4	-	11	1283	c.1166C>T	c.(1165-1167)cCt>cTt	p.P389L		NM_198505.2	NP_940907.2	Q4VNC0	AT135_HUMAN	ATPase type 13A5	389						integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)			NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76	all_cancers(143;1.08e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000307)		GAAGTTCAGAGGCCGGGGGTA	0.453																																						ENST00000342358.4																			0				NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76						c.(1165-1167)cCt>cTt		ATPase type 13A5							103	100	101					3																	193051645		2203	4300	6503	SO:0001583	missense	344905				ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding	g.chr3:193051645G>A	AK122613	CCDS33914.1	3q29	2010-04-20			ENSG00000187527	ENSG00000187527		"ATPases / P-type"	31789	protein-coding gene	gene with protein product							Standard	NM_198505		Approved	FLJ16025	uc011bsq.2	Q4VNC0	OTTHUMG00000156101	ENST00000342358.4:c.1166C>T	3.37:g.193051645G>A	ENSP00000341942:p.Pro389Leu						p.P389L	NM_198505.2	NP_940907.2	Q4VNC0	AT135_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000307)	11	1283	-	all_cancers(143;1.08e-08)|Ovarian(172;0.0386)		389					Q6UWS4|Q6ZWL0	Missense_Mutation	SNP	ENST00000342358.4	37	c.1166C>T	CCDS33914.1	.	.	.	.	.	.	.	.	.	.	G	31	5.100974	0.94245	.	.	ENSG00000187527	ENST00000342358	D	0.91521	-2.86	5.53	5.53	0.82687	ATPase, P-type, ATPase-associated domain (1);	0.000000	0.64402	D	0.000002	D	0.96818	0.8961	H	0.94306	3.52	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.97697	1.0182	10	0.87932	D	0	-11.8991	18.0274	0.89273	0.0:0.0:1.0:0.0	.	389	Q4VNC0	AT135_HUMAN	L	389	ENSP00000341942:P389L	ENSP00000341942:P389L	P	-	2	0	ATP13A5	194534339	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	9.794000	0.99096	2.611000	0.88343	0.650000	0.86243	CCT		0.453	ATP13A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343012.1	NM_198505		8	31	0	0	0	1	0	8	31					A	193051645	G	A	193051645	3	1	229	1	0	0	0	0	1	0	0	0	1127	1000	35	3	2568	3	ATP13A5	3	193051645	Missense_Mutation	SNP	G	TCGA-HC-8256-01A-11D-2260-08	18009682	193051645	4970785	8	10634											
SHROOM3	57619	broad.mit.edu	37	chr4	77661470	77661470	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgctcctgacctcgggagccAtctggaccggcaggtttcct	5	9	12	15	3	1	1	0	1	1	0	4	3	3	3	5	4	1	3	5	4	0	1			TCGA-HC-8256-01A-11D-2260-08	TCGA-HC-8256-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e9272d1-8ef5-42c5-933e-c466a8f22479	f1e42f84-82bb-4e9a-9093-d8dc73dc6653	g.chr4:77661470A>G	ENST00000296043.6	+	5	3097	c.2144A>G	c.(2143-2145)cAt>cGt	p.H715R		NM_020859.3	NP_065910.3	Q8TF72	SHRM3_HUMAN	shroom family member 3	715					actin cytoskeleton organization (GO:0030036)|apical protein localization (GO:0045176)|cell morphogenesis (GO:0000902)|cellular pigment accumulation (GO:0043482)|columnar/cuboidal epithelial cell development (GO:0002066)|neural tube closure (GO:0001843)|pattern specification process (GO:0007389)|regulation of cell shape (GO:0008360)	adherens junction (GO:0005912)|apical junction complex (GO:0043296)|apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|microtubule (GO:0005874)				NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60			Lung(101;0.0903)			CTCGGGAGCCATCTGGACCGG	0.677																																						ENST00000296043.6																			0				NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60						c.(2143-2145)cAt>cGt		shroom family member 3							44	55	51					4																	77661470		2180	4260	6440	SO:0001583	missense	57619				apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape	adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule	actin binding	g.chr4:77661470A>G	AB055660	CCDS3579.2	4q21.1	2009-11-25			ENSG00000138771	ENSG00000138771			30422	protein-coding gene	gene with protein product		604570				10589677, 16615870	Standard	NM_020859		Approved	ShrmL, SHRM, KIAA1481, APXL3	uc011cbx.2	Q8TF72	OTTHUMG00000157075	ENST00000296043.6:c.2144A>G	4.37:g.77661470A>G	ENSP00000296043:p.His715Arg						p.H715R	NM_020859.3	NP_065910.3	Q8TF72	SHRM3_HUMAN	Lung(101;0.0903)		5	3097	+			715					Q5QTQ3|Q6ZRW3|Q96IR9|Q9P247	Missense_Mutation	SNP	ENST00000296043.6	37	c.2144A>G	CCDS3579.2	.	.	.	.	.	.	.	.	.	.	a	11.45	1.641563	0.29157	.	.	ENSG00000138771	ENST00000296043	T	0.26810	1.71	5.65	0.646	0.17789	.	0.898283	0.09569	N	0.784396	T	0.15955	0.0384	L	0.29908	0.895	0.09310	N	1	B;B;B	0.12630	0.006;0.003;0.006	B;B;B	0.10450	0.005;0.002;0.005	T	0.33343	-0.9872	10	0.24483	T	0.36	-2.8581	5.2801	0.15670	0.6319:0.1532:0.2149:0.0	.	539;715;493	B4E244;Q8TF72;B3KY47	.;SHRM3_HUMAN;.	R	715	ENSP00000296043:H715R	ENSP00000296043:H715R	H	+	2	0	SHROOM3	77880494	0.010000	0.17322	0.012000	0.15200	0.002000	0.02628	1.929000	0.40114	0.103000	0.17682	-0.477000	0.04895	CAT		0.677	SHROOM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252408.2	NM_020859		18	70	0	0	0	1	0	18	70					G	77661470	A	G	77661470	3	3	229	1	0	0	0	0	1	0	0	0	14295	217	8	4	2162	4	SHROOM3	4	77661470	Missense_Mutation	SNP	A	TCGA-HC-8256-01A-11D-2260-08		77661470	113492806	9	10635											
PKD2	5311	broad.mit.edu	37	chr4	88989084	88989084	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggatcacagttctttaccacGtcccatgagcagccgaagtt	10	10	9	12	2	2	1	1	1	1	0	3	3	3	2	3	1	3	3	3	1	2	4			TCGA-HC-8256-01A-11D-2260-08	TCGA-HC-8256-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e9272d1-8ef5-42c5-933e-c466a8f22479	f1e42f84-82bb-4e9a-9093-d8dc73dc6653	g.chr4:88989084G>A	ENST00000508588.1	+	8	1042	c.647G>A	c.(646-648)cGt>cAt	p.R216H	PKD2_ENST00000237596.2_Missense_Mutation_p.R798H|PKD2_ENST00000511337.1_3'UTR|PKD2_ENST00000502363.1_Missense_Mutation_p.R216H			Q9BZL6	KPCD2_HUMAN	polycystic kidney disease 2 (autosomal dominant)	0					angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell death (GO:0008219)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|endothelial tube morphogenesis (GO:0061154)|intracellular signal transduction (GO:0035556)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell adhesion (GO:0045785)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell chemotaxis by VEGF-activated vascular endothelial growth factor receptor signaling pathway (GO:0038033)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast growth factor receptor signaling pathway (GO:0045743)|positive regulation of histone deacetylase activity (GO:1901727)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of T cell receptor signaling pathway (GO:0050862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|T cell receptor signaling pathway (GO:0050852)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(2)|lung(15)|skin(4)|upper_aerodigestive_tract(1)	36		Hepatocellular(203;0.114)|Acute lymphoblastic leukemia(40;0.221)		OV - Ovarian serous cystadenocarcinoma(123;9.98e-10)|COAD - Colon adenocarcinoma(81;0.0237)		TCTTTACCACGTCCCATGAGC	0.527																																						ENST00000237596.2																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(2)|lung(15)|skin(4)|upper_aerodigestive_tract(1)	36						c.(2392-2394)cGt>cAt		polycystic kidney disease 2 (autosomal dominant)							123	109	114					4																	88989084		2203	4300	6503	SO:0001583	missense	5311					basal cortex|basal plasma membrane|endoplasmic reticulum|integral to membrane|lamellipodium|microtubule basal body	calcium ion binding|cytoskeletal protein binding|voltage-gated chloride channel activity|voltage-gated sodium channel activity	g.chr4:88989084G>A	U50928	CCDS3627.1	4q22.1	2014-01-28			ENSG00000118762	ENSG00000118762		"Voltage-gated ion channels / Transient receptor potential cation channels", "EF-hand domain containing"	9009	protein-coding gene	gene with protein product	"transient receptor potential cation channel, subfamily P, member 2"	173910				8298643	Standard	NM_000297		Approved	PKD4, PC2, Pc-2, TRPP2	uc003hre.3	Q13563	OTTHUMG00000160982	ENST00000508588.1:c.647G>A	4.37:g.88989084G>A	ENSP00000427131:p.Arg216His					PKD2_ENST00000502363.1_Missense_Mutation_p.R216H|PKD2_ENST00000508588.1_Missense_Mutation_p.R216H|PKD2_ENST00000511337.1_3'UTR	p.R798H	NM_000297.3	NP_000288.1	Q13563	PKD2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;9.98e-10)|COAD - Colon adenocarcinoma(81;0.0237)	13	2459	+		Hepatocellular(203;0.114)|Acute lymphoblastic leukemia(40;0.221)	798					Q8TB08|Q9P0T6|Q9Y3X8	Missense_Mutation	SNP	ENST00000508588.1	37	c.2393G>A		.	.	.	.	.	.	.	.	.	.	G	13.76	2.334757	0.41297	.	.	ENSG00000118762	ENST00000237596;ENST00000508588;ENST00000502363	T;T;T	0.74315	-0.83;-0.83;-0.83	5.68	5.68	0.88126	.	0.054356	0.64402	D	0.000001	T	0.72906	0.3519	M	0.71036	2.16	0.58432	D	0.999993	B	0.28850	0.225	B	0.20184	0.028	T	0.73757	-0.3882	10	0.87932	D	0	-11.325	14.9921	0.71396	0.0701:0.0:0.9299:0.0	.	798	Q13563	PKD2_HUMAN	H	798;216;216	ENSP00000237596:R798H;ENSP00000427131:R216H;ENSP00000425289:R216H	ENSP00000237596:R798H	R	+	2	0	PKD2	89208108	1.000000	0.71417	0.738000	0.30950	0.127000	0.20565	6.153000	0.71819	2.668000	0.90789	0.563000	0.77884	CGT		0.527	PKD2-002	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000363253.2	NM_000297		5	17	0	0	0	1	0	5	17					A	88989084	G	A	88989084	3	1	229	1	0	0	0	0	1	0	0	0	11966	1145	40	1	2443	1	PKD2	4	88989084	Missense_Mutation	SNP	G	TCGA-HC-8256-01A-11D-2260-08	11327614	88989084	102165192	10	10636											
GPR98	84059	broad.mit.edu	37	chr5	89939768	89939768	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgatggtctaattgtgatgaTaaatgaaagcaaaggagatg	16	11	12	2	0	1	5	0	4	1	1	1	6	1	5	0	2	1	1	0	2	5	3			TCGA-HC-8256-01A-11D-2260-08	TCGA-HC-8256-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e9272d1-8ef5-42c5-933e-c466a8f22479	f1e42f84-82bb-4e9a-9093-d8dc73dc6653	g.chr5:89939768T>C	ENST00000405460.2	+	14	2798	c.2702T>C	c.(2701-2703)aTa>aCa	p.I901T		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	901	Calx-beta 7. {ECO:0000255}.				detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		ATTGTGATGATAAATGAAAGC	0.299																																						ENST00000405460.2																			0				NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269						c.(2701-2703)aTa>aCa		G protein-coupled receptor 98							100	98	99					5																	89939768		1842	4091	5933	SO:0001583	missense	84059				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr5:89939768T>C	AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"-", "GPCR / Class B : Orphans"	17416	protein-coding gene	gene with protein product		602851	"monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.2702T>C	5.37:g.89939768T>C	ENSP00000384582:p.Ile901Thr						p.I901T	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)	14	2798	+		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)	901					O75171|Q8TF58|Q9H0X5|Q9UL61	Missense_Mutation	SNP	ENST00000405460.2	37	c.2702T>C	CCDS47246.1	.	.	.	.	.	.	.	.	.	.	T	23.6	4.439549	0.83885	.	.	ENSG00000164199	ENST00000405460;ENST00000296619;ENST00000399043	T	0.28454	1.61	5.35	5.35	0.76521	Na-Ca exchanger/integrin-beta4 (1);	0.044240	0.85682	D	0.000000	T	0.54351	0.1853	M	0.70787	2.145	0.80722	D	1	D	0.89917	1.0	D	0.69142	0.962	T	0.59220	-0.7495	10	0.87932	D	0	.	15.327	0.74172	0.0:0.0:0.0:1.0	.	901	Q8WXG9	GPR98_HUMAN	T	901	ENSP00000384582:I901T	ENSP00000296619:I901T	I	+	2	0	GPR98	89975524	1.000000	0.71417	0.978000	0.43139	0.883000	0.51084	7.002000	0.76304	2.024000	0.59613	0.533000	0.62120	ATA		0.299	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2	NM_032119		10	13	0	0	0	1	0	10	13					C	89939768	T	C	89939768	3	2	229	1	0	0	0	0	1	0	0	0	6721	1406	49	4	2756	4	GPR98	5	89939768	Missense_Mutation	SNP	T	TCGA-HC-8256-01A-11D-2260-08		89939768	90975492	11	10637											
GNL1	2794	broad.mit.edu	37	chr6	30514006	30514008	+	In_Frame_Del	DEL	TCC	TCC	-																															agctgctcagctcttcctctTcctcctcctcctcgtcacct																										TCGA-HC-8256-01A-11D-2260-08	TCGA-HC-8256-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e9272d1-8ef5-42c5-933e-c466a8f22479	f1e42f84-82bb-4e9a-9093-d8dc73dc6653	g.chr6:30514006_30514008delTCC	ENST00000376621.3	-	12	2635_2637	c.1665_1667delGGA	c.(1663-1668)gaggaa>gaa	p.555_556EE>E		NM_005275.3	NP_005266.2	P36915	GNL1_HUMAN	guanine nucleotide binding protein-like 1	555	Asp/Glu-rich (highly acidic).				cellular response to DNA damage stimulus (GO:0006974)|GTP catabolic process (GO:0006184)|ribosome biogenesis (GO:0042254)|signal transduction (GO:0007165)|T cell mediated immunity (GO:0002456)	cytosol (GO:0005829)|extracellular space (GO:0005615)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural molecule activity (GO:0005198)			cervix(2)|endometrium(4)|large_intestine(1)|lung(10)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	25						ctcttcctcttcctcctcctcct	0.631																																						ENST00000376621.3																			0				cervix(2)|endometrium(4)|large_intestine(1)|lung(10)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	25						c.(1663-1668)gaa>ga		guanine nucleotide binding protein-like 1				57,1,4194		15,0,27,0,1,2083						-0.8	1			52	187,4,8051		47,0,93,0,4,3977	no	codingComplex	GNL1	NM_005275.3		62,0,120,0,5,6060	A1A1,A1A2,A1R,A2A2,A2R,RR		2.3174,1.3641,1.993				244,5,12245				SO:0001651	inframe_deletion	2794				response to DNA damage stimulus|signal transduction|T cell mediated immunity	extracellular space|intracellular	GTP binding|structural molecule activity	g.chr6:30514006_30514008delTCC		CCDS4680.1	6p21.3	2010-02-17			ENSG00000204590	ENSG00000204590			4413	protein-coding gene	gene with protein product		143024				8180467	Standard	NM_005275		Approved	HSR1	uc003nqh.3	P36915	OTTHUMG00000031137	ENST00000376621.3:c.1665_1667delGGA	6.37:g.30514015_30514017delTCC	ENSP00000365806:p.Glu559del						p.EE557del	NM_005275.3	NP_005266.2	P36915	GNL1_HUMAN			12	2635_2637	-			557			Asp/Glu-rich (highly acidic).		B0S838|Q96CT5	In_Frame_Del	DEL	ENST00000376621.3	37	c.1665_1667delGGA	CCDS4680.1																																																																																				0.631	GNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076241.2			4	8						4	8	---	---	---	---	-	30514008	TCC	-	30514006	7	5	229	1	0	1	0	1	0	0	0	0	6535	1783	62	0	160	0	GNL1	6	30514006	In_Frame_Del	DEL	TCC	TCGA-HC-8256-01A-11D-2260-08		30514006	140601061	12	10638											
RXRB	6257	broad.mit.edu	37	chr6	33168113	33168113	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gccaccgccgccgccgccgcCgctgcgggatccagccaggg	4	2	15	20	7	0	0	0	0	0	0	1	1	1	1	9	2	2	1	9	2	0	0			TCGA-HC-8256-01A-11D-2260-08	TCGA-HC-8256-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e9272d1-8ef5-42c5-933e-c466a8f22479	f1e42f84-82bb-4e9a-9093-d8dc73dc6653	g.chr6:33168113C>T	ENST00000374680.3	-	1	352	c.141G>A	c.(139-141)gcG>gcA	p.A47A	RXRB_ENST00000374685.4_Silent_p.A47A|RXRB_ENST00000544186.1_Intron|RNY4P10_ENST00000365571.1_RNA|SLC39A7_ENST00000374677.3_5'Flank|SLC39A7_ENST00000374675.3_5'Flank|RXRB_ENST00000413614.2_Missense_Mutation_p.R34Q	NM_001270401.1|NM_021976.4	NP_001257330.1|NP_068811.1	P28702	RXRB_HUMAN	retinoid X receptor, beta	47	Modulating. {ECO:0000250}.				cardiac muscle cell proliferation (GO:0060038)|cellular response to retinoic acid (GO:0071300)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|maternal placenta development (GO:0001893)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription initiation from RNA polymerase II promoter (GO:0006367)|ventricular cardiac muscle cell differentiation (GO:0055012)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	9-cis retinoic acid receptor activity (GO:0004886)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(1)|skin(2)	15					Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Bexarotene(DB00307)|Tazarotene(DB00799)|Tretinoin(DB00755)	ccgccgccgccgctgcGGGAT	0.736																																						ENST00000413614.2																			0				endometrium(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(1)|skin(2)	15						c.(100-102)cGg>cAg		retinoid X receptor, beta	Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Bexarotene(DB00307)|Etretinate(DB00926)|Tazarotene(DB00799)|Tretinoin(DB00755)						4	5	5					6																	33168113		1315	2347	3662	SO:0001819	synonymous_variant	6257				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	ligand-regulated transcription factor activity|retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding	g.chr6:33168113C>T	M84820	CCDS4768.1, CCDS59007.1	6p21.3	2013-01-16			ENSG00000204231	ENSG00000204231		"Nuclear hormone receptors"	10478	protein-coding gene	gene with protein product	"nuclear receptor subfamily 2 group B member 2"	180246				8257090	Standard	NM_021976		Approved	NR2B2, H-2RIIBP, RCoR-1	uc003odc.4	P28702	OTTHUMG00000031298	ENST00000374680.3:c.141G>A	6.37:g.33168113C>T						RXRB_ENST00000544186.1_Intron|RXRB_ENST00000374685.4_Silent_p.A47A|RXRB_ENST00000374680.3_Silent_p.A47A	p.R34Q			P28702	RXRB_HUMAN			1	320	-			298			Modulating (By similarity).		P28703|Q59G65|Q5JP92|Q5STQ1	Missense_Mutation	SNP	ENST00000374680.3	37	c.101G>A	CCDS4768.1	.	.	.	.	.	.	.	.	.	.	C	17.74	3.463719	0.63513	.	.	ENSG00000204231	ENST00000413614	D	0.93811	-3.29	4.74	2.97	0.34412	.	.	.	.	.	T	0.80670	0.4667	.	.	.	0.21020	N	0.999808	B	0.02656	0.0	B	0.04013	0.001	T	0.73421	-0.3988	8	0.56958	D	0.05	.	7.412	0.27023	0.0:0.8078:0.0:0.1922	.	34	B7Z3E4	.	Q	34	ENSP00000415561:R34Q	ENSP00000415561:R34Q	R	-	2	0	RXRB	33276091	.	.	0.998000	0.56505	0.983000	0.72400	.	.	0.619000	0.30197	0.549000	0.68633	CGG		0.736	RXRB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000076642.2	NM_021976		2	7	0	0	0	1	0	2	7					T	33168113	C	T	33168113	2	4	229	1	0	0	0	0	0	0	0	1	13764	639	23	2		2	RXRB	6	33168113	Silent	SNP	C	TCGA-HC-8256-01A-11D-2260-08	2654107	33168113	137946954	13	10639											
VEGFA	7422	broad.mit.edu	37	chr6	43745341	43745341	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gcccctgatgcgatgcggggGctgctgcaatgacgagggcc	6	6	17	12	3	0	2	0	2	0	0	0	4	0	2	3	3	4	3	3	3	1	0			TCGA-HC-8256-01A-11D-2260-08	TCGA-HC-8256-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e9272d1-8ef5-42c5-933e-c466a8f22479	f1e42f84-82bb-4e9a-9093-d8dc73dc6653	g.chr6:43745341G>A	ENST00000523873.1	+	3	292	c.254G>A	c.(253-255)gGc>gAc	p.G85D	VEGFA_ENST00000324450.6_Missense_Mutation_p.G265D|VEGFA_ENST00000523950.1_Missense_Mutation_p.G85D|VEGFA_ENST00000417285.2_Missense_Mutation_p.G265D|VEGFA_ENST00000372077.4_Missense_Mutation_p.G85D|VEGFA_ENST00000372055.4_Missense_Mutation_p.G265D|VEGFA_ENST00000230480.6_Missense_Mutation_p.G57D|VEGFA_ENST00000520948.1_Missense_Mutation_p.G85D|VEGFA_ENST00000457104.2_Missense_Mutation_p.G85D|VEGFA_ENST00000518824.1_Missense_Mutation_p.G85D|VEGFA_ENST00000523125.1_Missense_Mutation_p.G85D|VEGFA_ENST00000372067.3_Missense_Mutation_p.G265D|VEGFA_ENST00000518689.1_Missense_Mutation_p.G85D|VEGFA_ENST00000372064.4_Missense_Mutation_p.G265D|VEGFA_ENST00000482630.2_Missense_Mutation_p.G265D|VEGFA_ENST00000413642.3_Missense_Mutation_p.G265D|VEGFA_ENST00000425836.2_Missense_Mutation_p.G265D			P15692	VEGFA_HUMAN	vascular endothelial growth factor A	85					activation of protein kinase activity (GO:0032147)|angiogenesis (GO:0001525)|artery morphogenesis (GO:0048844)|basophil chemotaxis (GO:0002575)|blood coagulation (GO:0007596)|branching morphogenesis of an epithelial tube (GO:0048754)|camera-type eye morphogenesis (GO:0048593)|cardiac muscle fiber development (GO:0048739)|cardiac vascular smooth muscle cell development (GO:0060948)|cell maturation (GO:0048469)|cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to hypoxia (GO:0071456)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|commissural neuron axon guidance (GO:0071679)|coronary artery morphogenesis (GO:0060982)|coronary vein morphogenesis (GO:0003169)|dopaminergic neuron differentiation (GO:0071542)|endothelial cell chemotaxis (GO:0035767)|epithelial cell differentiation (GO:0030855)|eye photoreceptor cell development (GO:0042462)|growth (GO:0040007)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|induction of positive chemotaxis (GO:0050930)|kidney development (GO:0001822)|lactation (GO:0007595)|lung development (GO:0030324)|lymph vessel morphogenesis (GO:0036303)|macrophage differentiation (GO:0030225)|mammary gland alveolus development (GO:0060749)|mesoderm development (GO:0007498)|monocyte differentiation (GO:0030224)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|outflow tract morphogenesis (GO:0003151)|ovarian follicle development (GO:0001541)|patterning of blood vessels (GO:0001569)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive chemotaxis (GO:0050918)|positive regulation of angiogenesis (GO:0045766)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell division (GO:0051781)|positive regulation of cell migration (GO:0030335)|positive regulation of cell migration involved in sprouting angiogenesis (GO:0090050)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell proliferation by VEGF-activated platelet derived growth factor receptor signaling pathway (GO:0038091)|positive regulation of cellular component movement (GO:0051272)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of endothelial cell chemotaxis by VEGF-activated vascular endothelial growth factor receptor signaling pathway (GO:0038033)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of gene expression (GO:0010628)|positive regulation of histone deacetylase activity (GO:1901727)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of mast cell chemotaxis (GO:0060754)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of p38MAPK cascade (GO:1900745)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-tyrosine autophosphorylation (GO:1900086)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of protein autophosphorylation (GO:0031954)|positive regulation of protein complex assembly (GO:0031334)|positive regulation of protein kinase C signaling (GO:0090037)|positive regulation of protein localization to early endosome (GO:1902966)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of receptor internalization (GO:0002092)|positive regulation of retinal ganglion cell axon guidance (GO:1902336)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061419)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|positive regulation of vascular permeability (GO:0043117)|post-embryonic camera-type eye development (GO:0031077)|primitive erythrocyte differentiation (GO:0060319)|regulation of cell shape (GO:0008360)|regulation of retinal ganglion cell axon guidance (GO:0090259)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|response to hypoxia (GO:0001666)|surfactant homeostasis (GO:0043129)|tube formation (GO:0035148)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor signaling pathway (GO:0038084)|vasculogenesis (GO:0001570)|VEGF-activated neuropilin signaling pathway (GO:0038190)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|platelet alpha granule lumen (GO:0031093)|proteinaceous extracellular matrix (GO:0005578)|secretory granule (GO:0030141)	chemoattractant activity (GO:0042056)|cytokine activity (GO:0005125)|extracellular matrix binding (GO:0050840)|fibronectin binding (GO:0001968)|growth factor activity (GO:0008083)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|neuropilin binding (GO:0038191)|platelet-derived growth factor receptor binding (GO:0005161)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|receptor agonist activity (GO:0048018)|vascular endothelial growth factor receptor 1 binding (GO:0043183)|vascular endothelial growth factor receptor 2 binding (GO:0043184)|vascular endothelial growth factor receptor binding (GO:0005172)			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)	9	all_cancers(18;5.46e-07)|all_epithelial(2;5.96e-08)|Lung NSC(15;0.000157)|all_lung(25;0.000486)|Hepatocellular(11;0.00309)		all cancers(41;0.000413)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.0742)|OV - Ovarian serous cystadenocarcinoma(102;0.196)		Aflibercept(DB08885)|Bevacizumab(DB00112)|Carvedilol(DB01136)|Dalteparin(DB06779)|Gliclazide(DB01120)|Minocycline(DB01017)|Ranibizumab(DB01270)|Vandetanib(DB05294)	CGATGCGGGGGCTGCTGCAAT	0.587																																						ENST00000372067.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)	9						c.(793-795)gGc>gAc		vascular endothelial growth factor A	Atorvastatin(DB01076)|Bevacizumab(DB00112)|Carvedilol(DB01136)|Ginkgo biloba(DB01381)|Gliclazide(DB01120)|Minocycline(DB01017)|Ranibizumab(DB01270)|Simvastatin(DB00641)						99	79	86					6																	43745341		2203	4300	6503	SO:0001583	missense	7422				basophil chemotaxis|cellular response to hypoxia|induction of positive chemotaxis|platelet activation|platelet degranulation|platelet-derived growth factor receptor signaling pathway|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of cell adhesion|positive regulation of cell division|positive regulation of endothelial cell proliferation|positive regulation of leukocyte migration|positive regulation of mast cell chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|positive regulation of vascular permeability|regulation of cell shape|vascular endothelial growth factor receptor signaling pathway|vasculogenesis	cell surface|extracellular space|membrane|platelet alpha granule lumen	cell surface binding|chemoattractant activity|cytokine activity|fibronectin binding|growth factor activity|heparin binding|platelet-derived growth factor receptor binding|protein heterodimerization activity|protein homodimerization activity|vascular endothelial growth factor receptor 1 binding|vascular endothelial growth factor receptor 2 binding|vascular endothelial growth factor receptor binding	g.chr6:43745341G>A	AB021221	CCDS34457.1, CCDS4907.2, CCDS34458.1, CCDS47432.1, CCDS47433.1, CCDS47434.1, CCDS47435.1, CCDS55007.1, CCDS55008.1, CCDS55009.1, CCDS55010.1, CCDS55011.1, CCDS55012.1, CCDS55013.1, CCDS55014.1, CCDS55015.1, CCDS69125.1	6p12	2008-02-05	2006-10-31	2006-10-31	ENSG00000112715	ENSG00000112715			12680	protein-coding gene	gene with protein product		192240	"vascular endothelial growth factor"	VEGF		8786112	Standard	NM_001025366		Approved	VEGF-A, VPF	uc003owh.3	P15692	OTTHUMG00000014745	ENST00000523873.1:c.254G>A	6.37:g.43745341G>A	ENSP00000430479:p.Gly85Asp					VEGFA_ENST00000523873.1_Missense_Mutation_p.G85D|VEGFA_ENST00000518824.1_Missense_Mutation_p.G85D|VEGFA_ENST00000523950.1_Missense_Mutation_p.G85D|VEGFA_ENST00000413642.3_Missense_Mutation_p.G265D|VEGFA_ENST00000520948.1_Missense_Mutation_p.G85D|VEGFA_ENST00000518689.1_Missense_Mutation_p.G85D|VEGFA_ENST00000230480.6_Missense_Mutation_p.G57D|VEGFA_ENST00000457104.2_Missense_Mutation_p.G85D|VEGFA_ENST00000324450.6_Missense_Mutation_p.G265D|VEGFA_ENST00000372055.4_Missense_Mutation_p.G265D|VEGFA_ENST00000417285.2_Missense_Mutation_p.G265D|VEGFA_ENST00000372077.4_Missense_Mutation_p.G85D|VEGFA_ENST00000425836.2_Missense_Mutation_p.G265D|VEGFA_ENST00000372064.4_Missense_Mutation_p.G265D|VEGFA_ENST00000523125.1_Missense_Mutation_p.G85D|VEGFA_ENST00000482630.2_Missense_Mutation_p.G265D	p.G265D	NM_001025366.2|NM_001025367.2|NM_001025368.2|NM_001025369.2|NM_001033756.2|NM_001171623.1|NM_001171624.1|NM_001171625.1|NM_001171626.1|NM_001171627.1|NM_001171629.1|NM_003376.5	NP_001020537.2|NP_001020538.2|NP_001020539.2|NP_001020540.2|NP_001028928.1|NP_001165094.1|NP_001165095.1|NP_001165096.1|NP_001165097.1|NP_001165098.1|NP_001165100.1|NP_003367.4	P15692	VEGFA_HUMAN	all cancers(41;0.000413)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.0742)|OV - Ovarian serous cystadenocarcinoma(102;0.196)		3	1288	+	all_cancers(18;5.46e-07)|all_epithelial(2;5.96e-08)|Lung NSC(15;0.000157)|all_lung(25;0.000486)|Hepatocellular(11;0.00309)		85					B5BU86|H0Y2S8|H0Y407|H0Y414|H0Y462|H0Y8N2|H3BLW7|O60720|O75875|Q074Z4|Q16889|Q5UB46|Q6P0P5|Q96KJ0|Q96L82|Q96NW5|Q9H1W8|Q9H1W9|Q9UH58|Q9UL23	Missense_Mutation	SNP	ENST00000523873.1	37	c.794G>A	CCDS55010.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.173824	0.78452	.	.	ENSG00000112715	ENST00000372067;ENST00000324450;ENST00000417285;ENST00000413642;ENST00000372055;ENST00000482630;ENST00000425836;ENST00000372064;ENST00000372077;ENST00000520948;ENST00000523873;ENST00000523950;ENST00000457104;ENST00000518689;ENST00000523125;ENST00000518824;ENST00000230480;ENST00000520265	.	.	.	4.75	4.75	0.60458	Platelet-derived growth factor, conserved site (1);Platelet-derived growth factor (PDGF) (3);	0.103357	0.64402	D	0.000003	D	0.84547	0.5496	M	0.94021	3.485	0.80722	D	1	D;D;D;D;D;D;D;D;D	0.89917	1.0;0.999;0.999;1.0;0.999;0.998;0.999;0.998;1.0	D;D;D;D;D;D;D;D;D	0.97110	0.998;0.992;0.988;0.994;0.988;0.966;0.992;0.985;1.0	D	0.88871	0.3333	9	0.87932	D	0	3.1201	17.1209	0.86701	0.0:0.0:1.0:0.0	.	85;265;85;265;85;265;265;85;85	P15692-10;P15692-12;P15692-8;P15692-14;P15692-3;P15692-13;P15692-11;P15692;Q6WZM0	.;.;.;.;.;.;.;VEGFA_HUMAN;.	D	265;265;265;265;265;265;265;265;85;85;85;85;85;85;85;85;57;59	.	ENSP00000230480:G57D	G	+	2	0	VEGFA	43853319	1.000000	0.71417	0.998000	0.56505	0.513000	0.34164	9.810000	0.99221	2.357000	0.79964	0.580000	0.79431	GGC		0.587	VEGFA-021	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000374460.1	NM_001025366		3	67	0	0	0	1	0	3	67					A	43745341	G	A	43745341	3	1	229	1	0	0	0	0	1	0	0	0	17147	1203	42	3	804	3	VEGFA	6	43745341	Missense_Mutation	SNP	G	TCGA-HC-8256-01A-11D-2260-08	10577228	43745341	127369726	14	10640											
THEMIS	387357	broad.mit.edu	37	chr6	128134393	128134393	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gtcctcttcaatggaaagatCcctgacagacaccttcacat	12	10	6	13	0	3	3	2	1	1	2	5	4	5	4	3	1	0	0	3	1	2	2			TCGA-HC-8256-01A-11D-2260-08	TCGA-HC-8256-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e9272d1-8ef5-42c5-933e-c466a8f22479	f1e42f84-82bb-4e9a-9093-d8dc73dc6653	g.chr6:128134393C>A	ENST00000368248.2	-	4	1541	c.1393G>T	c.(1393-1395)Gat>Tat	p.D465Y	THEMIS_ENST00000537166.1_Missense_Mutation_p.D430Y|THEMIS_ENST00000543064.1_Missense_Mutation_p.D465Y|THEMIS_ENST00000368250.1_Missense_Mutation_p.D386Y	NM_001010923.2	NP_001010923.1	Q8N1K5	THMS1_HUMAN	thymocyte selection associated	465	CABIT 2.				negative T cell selection (GO:0043383)|positive T cell selection (GO:0043368)|T cell receptor signaling pathway (GO:0050852)	cell-cell junction (GO:0005911)|COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.D465Y(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(3)	60						ATGGAAAGATCCCTGACAGAC	0.468																																						ENST00000368250.1																			1	Substitution - Missense(1)	p.D465Y(1)	lung(1)	breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(3)	60						c.(1156-1158)Gat>Tat		thymocyte selection associated							80	81	81					6																	128134393		2203	4300	6503	SO:0001583	missense	387357				negative T cell selection|positive T cell selection|T cell receptor signaling pathway	cytoplasm|nucleus		g.chr6:128134393C>A	AK094863	CCDS34534.1, CCDS55055.1	6q22.33	2012-02-08	2009-06-25	2009-06-25	ENSG00000172673	ENSG00000172673			21569	protein-coding gene	gene with protein product	"thymocyte expressed molecule involved in selection"	613607	"chromosome 6 open reading frame 207", "chromosome 6 open reading frame 190", "thymocyte selection pathway associated"	C6orf207, C6orf190, TSEPA		19597499, 19597498, 19597497	Standard	NM_001010923		Approved	bA325O24.4, FLJ40584, bA325O24.3	uc011ebt.2	Q8N1K5	OTTHUMG00000015534	ENST00000368248.2:c.1393G>T	6.37:g.128134393C>A	ENSP00000357231:p.Asp465Tyr					THEMIS_ENST00000368248.2_Missense_Mutation_p.D465Y|THEMIS_ENST00000537166.1_Missense_Mutation_p.D430Y|THEMIS_ENST00000543064.1_Missense_Mutation_p.D465Y	p.D386Y			Q8N1K5	THMS1_HUMAN			5	1654	-			465			CABIT 2.		A1L4F0|A8K7N1|B3KT31|B3KW32|B3KY07|F5H1J9|Q5T3C4|Q5T3C5|Q6MZT7	Missense_Mutation	SNP	ENST00000368248.2	37	c.1156G>T	CCDS34534.1	.	.	.	.	.	.	.	.	.	.	C	17.33	3.363448	0.61513	.	.	ENSG00000172673	ENST00000368250;ENST00000543064;ENST00000368248;ENST00000537166	T;T;T;T	0.17054	2.3;2.3;2.3;2.3	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	T	0.42154	0.1190	M	0.83603	2.65	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.43032	-0.9416	10	0.87932	D	0	-24.119	19.8145	0.96560	0.0:1.0:0.0:0.0	.	465;465	F5H1J9;Q8N1K5	.;THMS1_HUMAN	Y	386;465;465;430	ENSP00000357233:D386Y;ENSP00000439594:D465Y;ENSP00000357231:D465Y;ENSP00000439863:D430Y	ENSP00000357231:D465Y	D	-	1	0	THEMIS	128176086	1.000000	0.71417	1.000000	0.80357	0.713000	0.41058	6.223000	0.72257	2.683000	0.91414	0.563000	0.77884	GAT		0.468	THEMIS-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		NM_001010923		7	43	1	0	8.12818e-05	1	9.22236e-05	7	43					A	128134393	C	A	128134393	3	1	229	1	0	0	0	0	1	0	0	0	15857	855	30	5	665	5	THEMIS	6	128134393	Missense_Mutation	SNP	C	TCGA-HC-8256-01A-11D-2260-08	84389052	128134393	42980674	15	10641											
ENPP3	5169	broad.mit.edu	37	chr6	131973760	131973760	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttgctcttgttcagatgactGtttgcagaggaaagattgct	9	15	11	6	0	2	4	1	1	1	3	2	5	2	5	0	1	3	5	0	1	1	5			TCGA-HC-8256-01A-11D-2260-08	TCGA-HC-8256-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e9272d1-8ef5-42c5-933e-c466a8f22479	f1e42f84-82bb-4e9a-9093-d8dc73dc6653	g.chr6:131973760G>A	ENST00000414305.1	+	5	684	c.356G>A	c.(355-357)tGt>tAt	p.C119Y	ENPP3_ENST00000470930.1_3'UTR|ENPP3_ENST00000358229.5_Missense_Mutation_p.C119Y|ENPP3_ENST00000543135.1_Missense_Mutation_p.C85Y|ENPP3_ENST00000427148.2_Missense_Mutation_p.C85Y|ENPP3_ENST00000357639.3_Missense_Mutation_p.C119Y			O14638	ENPP3_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 3	119	SMB 2. {ECO:0000255|PROSITE- ProRule:PRU00350}.				immune response (GO:0006955)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleoside triphosphate catabolic process (GO:0009143)|phosphate-containing compound metabolic process (GO:0006796)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|perinuclear region of cytoplasm (GO:0048471)	metal ion binding (GO:0046872)|NADH pyrophosphatase activity (GO:0035529)|nucleic acid binding (GO:0003676)|nucleoside-triphosphate diphosphatase activity (GO:0047429)|nucleotide diphosphatase activity (GO:0004551)|phosphodiesterase I activity (GO:0004528)|polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)			NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0252)|OV - Ovarian serous cystadenocarcinoma(155;0.0511)		TCAGATGACTGTTTGCAGAGG	0.443																																						ENST00000414305.1																			0				NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53						c.(355-357)tGt>tAt		ectonucleotide pyrophosphatase/phosphodiesterase 3							181	164	170					6																	131973760		2203	4300	6503	SO:0001583	missense	5169				immune response|nucleoside triphosphate catabolic process|phosphate metabolic process	extracellular region|integral to plasma membrane|perinuclear region of cytoplasm	metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity	g.chr6:131973760G>A	AF005632	CCDS5148.1	6q22	2010-06-23			ENSG00000154269	ENSG00000154269	3.1.4.1, 3.6.1.9	"CD molecules"	3358	protein-coding gene	gene with protein product		602182		PDNP3		9344668	Standard	NM_005021		Approved	PD-IBETA, gp130RB13-6, B10, CD203c	uc003qcv.3	O14638	OTTHUMG00000016292	ENST00000414305.1:c.356G>A	6.37:g.131973760G>A	ENSP00000406261:p.Cys119Tyr					ENPP3_ENST00000357639.3_Missense_Mutation_p.C119Y|ENPP3_ENST00000427148.2_Missense_Mutation_p.C85Y|ENPP3_ENST00000543135.1_Missense_Mutation_p.C85Y|ENPP3_ENST00000470930.1_3'UTR|ENPP3_ENST00000358229.5_Missense_Mutation_p.C119Y	p.C119Y			O14638	ENPP3_HUMAN		GBM - Glioblastoma multiforme(226;0.0252)|OV - Ovarian serous cystadenocarcinoma(155;0.0511)	5	684	+	Breast(56;0.0753)		119			SMB 2.		Q5JTL3	Missense_Mutation	SNP	ENST00000414305.1	37	c.356G>A	CCDS5148.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.152249	0.78001	.	.	ENSG00000154269	ENST00000414305;ENST00000357639;ENST00000543135;ENST00000427148;ENST00000358229	D;D;D;D;D	0.91945	-2.94;-2.94;-2.94;-2.94;-2.94	5.3	5.3	0.74995	Somatomedin B domain (4);	0.000000	0.64402	D	0.000001	D	0.95940	0.8678	M	0.85197	2.74	0.49687	D	0.999813	D	0.89917	1.0	D	0.91635	0.999	D	0.96459	0.9340	10	0.87932	D	0	-18.2601	15.8715	0.79122	0.0:0.0:1.0:0.0	.	119	O14638	ENPP3_HUMAN	Y	119;119;85;85;119	ENSP00000406261:C119Y;ENSP00000350265:C119Y;ENSP00000440810:C85Y;ENSP00000399269:C85Y;ENSP00000350964:C119Y	ENSP00000350265:C119Y	C	+	2	0	ENPP3	132015453	1.000000	0.71417	0.977000	0.42913	0.954000	0.61252	6.648000	0.74359	2.485000	0.83878	0.655000	0.94253	TGT		0.443	ENPP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043627.2			29	85	0	0	0	1	0	29	85					A	131973760	G	A	131973760	3	1	229	1	0	0	0	0	1	0	0	0	5131	1377	48	3	370	3	ENPP3	6	131973760	Missense_Mutation	SNP	G	TCGA-HC-8256-01A-11D-2260-08	3839367	131973760	39141307	16	10642											
PIK3CG	5294	broad.mit.edu	37	chr7	106508996	106508996	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccactggtggatgactgcacGggagtcaccggctaccatga	9	7	13	12	2	1	2	1	2	0	0	1	4	1	4	3	4	2	2	3	4	1	1	rs564086584		TCGA-HC-8256-01A-11D-2260-08	TCGA-HC-8256-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e9272d1-8ef5-42c5-933e-c466a8f22479	f1e42f84-82bb-4e9a-9093-d8dc73dc6653	g.chr7:106508996G>T	ENST00000359195.3	+	2	1300	c.990G>T	c.(988-990)acG>acT	p.T330T	PIK3CG_ENST00000440650.2_Silent_p.T330T|PIK3CG_ENST00000496166.1_Silent_p.T330T	NM_001282427.1|NM_002649.2	NP_001269356.1|NP_002640.2	P48736	PK3CG_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma	330					adaptive immune response (GO:0002250)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cytokine production (GO:0001816)|dendritic cell chemotaxis (GO:0002407)|endocytosis (GO:0006897)|G-protein coupled receptor signaling pathway (GO:0007186)|hepatocyte apoptotic process (GO:0097284)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|mast cell degranulation (GO:0043303)|natural killer cell chemotaxis (GO:0035747)|negative regulation of cardiac muscle contraction (GO:0055118)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of triglyceride catabolic process (GO:0010897)|neutrophil chemotaxis (GO:0030593)|neutrophil extravasation (GO:0072672)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of cell adhesion mediated by integrin (GO:0033628)|respiratory burst involved in defense response (GO:0002679)|secretory granule localization (GO:0032252)|small molecule metabolic process (GO:0044281)|T cell activation (GO:0042110)|T cell chemotaxis (GO:0010818)|T cell proliferation (GO:0042098)	1-phosphatidylinositol-4-phosphate 3-kinase, class IB complex (GO:0005944)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|mast cell granule (GO:0042629)|membrane (GO:0016020)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|ephrin receptor binding (GO:0046875)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						ATGACTGCACGGGAGTCACCG	0.592																																						ENST00000359195.3																			0				breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						c.(988-990)acG>acT		phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma							85	75	78					7																	106508996		2203	4300	6503	SO:0001819	synonymous_variant	5294				G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding	g.chr7:106508996G>T		CCDS5739.1	7q22	2012-07-13	2012-07-13		ENSG00000105851	ENSG00000105851	2.7.1.153		8978	protein-coding gene	gene with protein product		601232	"phosphoinositide-3-kinase, catalytic, gamma polypeptide"				Standard	XM_005250443		Approved		uc003vdw.3	P48736	OTTHUMG00000157641	ENST00000359195.3:c.990G>T	7.37:g.106508996G>T						PIK3CG_ENST00000440650.2_Silent_p.T330T|PIK3CG_ENST00000496166.1_Silent_p.T330T	p.T330T	NM_002649.2	NP_002640.2	P48736	PK3CG_HUMAN			2	1300	+			330					A4D0Q6|Q8IV23|Q9BZC8	Silent	SNP	ENST00000359195.3	37	c.990G>T	CCDS5739.1																																																																																				0.592	PIK3CG-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349294.1			14	77	1	0	5.60225e-13	1	6.61065e-13	14	77					T	106508996	G	T	106508996	2	4	229	1	0	0	0	0	0	0	0	1	11916	1103	39	5		5	PIK3CG	7	106508996	Silent	SNP	G	TCGA-HC-8256-01A-11D-2260-08		106508996	52629667	17	10643											
ADAMDEC1	27299	broad.mit.edu	37	chr8	24254909	24254909	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gctaaccacacatgtggtgtGaagagcactgacgggaaaca	14	6	12	9	1	0	3	0	2	0	1	0	4	0	4	1	2	3	2	1	2	3	1			TCGA-HC-8256-01A-11D-2260-08	TCGA-HC-8256-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e9272d1-8ef5-42c5-933e-c466a8f22479	f1e42f84-82bb-4e9a-9093-d8dc73dc6653	g.chr8:24254909G>A	ENST00000256412.4	+	6	787	c.567G>A	c.(565-567)gtG>gtA	p.V189V	RP11-624C23.1_ENST00000523578.1_RNA|RP11-624C23.1_ENST00000519689.1_RNA|ADAMDEC1_ENST00000538205.1_Silent_p.V110V|ADAMDEC1_ENST00000522298.1_Silent_p.V110V	NM_014479.3	NP_055294.1	O15204	ADEC1_HUMAN	ADAM-like, decysin 1	189					immune response (GO:0006955)|negative regulation of cell adhesion (GO:0007162)	extracellular region (GO:0005576)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|large_intestine(4)|skin(2)|stomach(1)	9		Prostate(55;0.0181)		Colorectal(74;0.016)|COAD - Colon adenocarcinoma(73;0.0646)|BRCA - Breast invasive adenocarcinoma(99;0.168)		CATGTGGTGTGAAGAGCACTG	0.438																																					Ovarian(147;687 1849 3699 25981 31337)	ENST00000538205.1																			0				NS(1)|breast(1)|large_intestine(4)|skin(2)|stomach(1)	9						c.(328-330)gtG>gtA		ADAM-like, decysin 1							216	208	210					8																	24254909		2203	4300	6503	SO:0001819	synonymous_variant	27299				integrin-mediated signaling pathway|negative regulation of cell adhesion|proteolysis	extracellular region|integral to membrane	integrin binding|metalloendopeptidase activity|zinc ion binding	g.chr8:24254909G>A	Y13323	CCDS6044.1, CCDS55212.1	8p12	2008-08-07			ENSG00000134028	ENSG00000134028			16299	protein-coding gene	gene with protein product		606393				9271581, 12037602	Standard	NM_001145271		Approved	M12.219	uc003xdz.2	O15204	OTTHUMG00000097858	ENST00000256412.4:c.567G>A	8.37:g.24254909G>A						RP11-624C23.1_ENST00000519689.1_RNA|ADAMDEC1_ENST00000522298.1_Silent_p.V110V|RP11-624C23.1_ENST00000523578.1_RNA|ADAMDEC1_ENST00000256412.4_Silent_p.V189V	p.V110V	NM_001145271.1	NP_001138743.1	O15204	ADEC1_HUMAN		Colorectal(74;0.016)|COAD - Colon adenocarcinoma(73;0.0646)|BRCA - Breast invasive adenocarcinoma(99;0.168)	7	877	+		Prostate(55;0.0181)	189					B7ZAK5	Silent	SNP	ENST00000256412.4	37	c.330G>A	CCDS6044.1																																																																																				0.438	ADAMDEC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215149.2	NM_014479		35	137	0	0	0	1	0	35	137					A	24254909	G	A	24254909	2	1	229	1	0	0	0	0	0	0	0	1	254	1277	45	3		3	ADAMDEC1	8	24254909	Silent	SNP	G	TCGA-HC-8256-01A-11D-2260-08		24254909	122109113	18	10644											
PAG1	55824	broad.mit.edu	37	chr8	81897549	81897549	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	cctgggaatccagcagatccGaggccgatgtctggacttcc	8	8	12	13	2	1	1	0	0	1	1	4	5	4	3	5	3	1	1	5	3	1	1			TCGA-HC-8256-01A-11D-2260-08	TCGA-HC-8256-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e9272d1-8ef5-42c5-933e-c466a8f22479	f1e42f84-82bb-4e9a-9093-d8dc73dc6653	g.chr8:81897549G>C	ENST00000220597.4	-	7	1048	c.338C>G	c.(337-339)tCg>tGg	p.S113W		NM_018440.3	NP_060910.3	Q9NWQ8	PHAG1_HUMAN	phosphoprotein membrane anchor with glycosphingolipid microdomains 1	113					epidermal growth factor receptor signaling pathway (GO:0007173)|intracellular signal transduction (GO:0035556)|negative regulation of T cell activation (GO:0050868)|positive regulation of signal transduction (GO:0009967)|regulation of T cell activation (GO:0050863)|signal transduction (GO:0007165)|T cell receptor signaling pathway (GO:0050852)	integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	SH2 domain binding (GO:0042169)|SH3/SH2 adaptor activity (GO:0005070)			breast(2)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|prostate(2)	11	Lung NSC(7;5.76e-06)|all_lung(9;2e-05)		BRCA - Breast invasive adenocarcinoma(6;0.0567)|Epithelial(68;0.0634)|all cancers(69;0.197)			CAGCAGATCCGAGGCCGATGT	0.527																																						ENST00000220597.4																			0				breast(2)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|prostate(2)	11						c.(337-339)tCg>tGg		phosphoprotein associated with glycosphingolipid microdomains 1							49	49	49					8																	81897549		2203	4300	6503	SO:0001583	missense	55824				epidermal growth factor receptor signaling pathway|intracellular signal transduction|T cell receptor signaling pathway	integral to membrane|intracellular|membrane raft|plasma membrane	SH2 domain binding|SH3/SH2 adaptor activity	g.chr8:81897549G>C	AF240634	CCDS6227.1	8q21.13	2014-04-30	2014-04-30						30043	protein-coding gene	gene with protein product	"Csk-binding protein", "transmembrane adaptor protein PAG"	605767	"phosphoprotein associated with glycosphingolipid microdomains 1"			10790433	Standard	XM_006716461		Approved	PAG, CBP	uc003ybz.3	Q9NWQ8		ENST00000220597.4:c.338C>G	8.37:g.81897549G>C	ENSP00000220597:p.Ser113Trp						p.S113W	NM_018440.3	NP_060910.3	Q9NWQ8	PAG1_HUMAN	BRCA - Breast invasive adenocarcinoma(6;0.0567)|Epithelial(68;0.0634)|all cancers(69;0.197)		7	1048	-	Lung NSC(7;5.76e-06)|all_lung(9;2e-05)		113					A8K1A3|Q2M1Z9|Q5BKU4|Q9NYK0	Missense_Mutation	SNP	ENST00000220597.4	37	c.338C>G	CCDS6227.1	.	.	.	.	.	.	.	.	.	.	G	14.92	2.680246	0.47886	.	.	ENSG00000076641	ENST00000220597	.	.	.	5.08	5.08	0.68730	.	0.359965	0.29676	N	0.011490	T	0.78259	0.4255	M	0.67953	2.075	0.58432	D	0.999999	D	0.76494	0.999	D	0.73380	0.98	T	0.80645	-0.1290	9	0.87932	D	0	-12.9489	18.4276	0.90614	0.0:0.0:1.0:0.0	.	113	Q9NWQ8	PAG1_HUMAN	W	113	.	ENSP00000220597:S113W	S	-	2	0	PAG1	82060104	0.997000	0.39634	0.707000	0.30419	0.042000	0.13812	6.396000	0.73234	2.482000	0.83794	0.655000	0.94253	TCG		0.527	PAG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379352.3	NM_018440		2	20	0	0	0	1	0	2	20					C	81897549	G	C	81897549	3	2	229	1	0	0	0	0	1	0	0	0	11388	1059	37	5	972	5	PAG1	8	81897549	Missense_Mutation	SNP	G	TCGA-HC-8256-01A-11D-2260-08	57642640	81897549	64466473	19	10645											
ADCY8	114	broad.mit.edu	37	chr8	131859738	131859738	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggttcttcaagggtatcgActtgtcaaaatcacaccaca	13	10	7	11	1	4	0	3	0	1	0	5	1	4	0	1	2	0	2	1	2	4	4			TCGA-HC-8256-01A-11D-2260-08	TCGA-HC-8256-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e9272d1-8ef5-42c5-933e-c466a8f22479	f1e42f84-82bb-4e9a-9093-d8dc73dc6653	g.chr8:131859738A>T	ENST00000286355.5	-	11	4526	c.2434T>A	c.(2434-2436)Tcg>Acg	p.S812T	ADCY8_ENST00000377928.3_Intron	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	812					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|learning or memory (GO:0007611)|long-term memory (GO:0007616)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			AAGGGTATCGACTTGTCAAAA	0.393										HNSCC(32;0.087)																												ENST00000286355.5																			0				NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						c.(2434-2436)Tcg>Acg		adenylate cyclase 8 (brain)							68	67	67					8																	131859738		2203	4300	6503	SO:0001583	missense	114				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding	g.chr8:131859738A>T	Z35309	CCDS6363.1	8q24	2013-02-04			ENSG00000155897	ENSG00000155897	4.6.1.1	"Adenylate cyclases"	239	protein-coding gene	gene with protein product		103070		ADCY3		8076676	Standard	NM_001115		Approved	HBAC1, AC8	uc003ytd.4	P40145	OTTHUMG00000164756	ENST00000286355.5:c.2434T>A	8.37:g.131859738A>T	ENSP00000286355:p.Ser812Thr	HNSCC(32;0.087)				ADCY8_ENST00000377928.3_Intron	p.S812T	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000538)		11	4526	-	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		812						Missense_Mutation	SNP	ENST00000286355.5	37	c.2434T>A	CCDS6363.1	.	.	.	.	.	.	.	.	.	.	A	11.56	1.673978	0.29693	.	.	ENSG00000155897	ENST00000286355	T	0.79554	-1.28	5.9	4.69	0.59074	.	0.359809	0.28778	N	0.014169	T	0.60301	0.2258	N	0.16478	0.41	0.80722	D	1	B	0.20368	0.044	B	0.14578	0.011	T	0.54186	-0.8331	10	0.11182	T	0.66	.	5.7452	0.18116	0.7642:0.0:0.0838:0.1519	.	812	P40145	ADCY8_HUMAN	T	812	ENSP00000286355:S812T	ENSP00000286355:S812T	S	-	1	0	ADCY8	131928920	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.224000	0.58593	2.264000	0.75181	0.533000	0.62120	TCG		0.393	ADCY8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380080.1			5	27	0	0	0	1	0	5	27					T	131859738	A	T	131859738	3	4	229	1	0	0	0	0	1	0	0	0	300	275	10	5	1353	5	ADCY8	8	131859738	Missense_Mutation	SNP	A	TCGA-HC-8256-01A-11D-2260-08	49962189	131859738	14504284	20	10646											
TRIM5	85363	broad.mit.edu	37	chr11	5701211	5701211	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	catgccgattaggccgtatgTtctcaggctggtaactgatc	8	12	11	10	2	1	1	1	1	1	0	3	2	1	1	2	3	2	4	2	3	3	4			TCGA-HC-8256-01A-11D-2260-08	TCGA-HC-8256-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e9272d1-8ef5-42c5-933e-c466a8f22479	f1e42f84-82bb-4e9a-9093-d8dc73dc6653	g.chr11:5701211T>G	ENST00000380034.3	-	2	453	c.197A>C	c.(196-198)aAc>aCc	p.N66T	TRIM5_ENST00000380027.1_Missense_Mutation_p.N66T|TRIM5_ENST00000396847.3_Missense_Mutation_p.N66T|TRIM5_ENST00000396855.3_Missense_Mutation_p.N66T|TRIM5_ENST00000396853.4_Missense_Mutation_p.N66T|TRIM5_ENST00000305836.5_Missense_Mutation_p.N66T|TRIM5_ENST00000483835.1_5'Flank	NM_033034.2|NM_033092.2	NP_149023.2|NP_149083.2	Q9C035	TRIM5_HUMAN	tripartite motif containing 5	66					activation of innate immune response (GO:0002218)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of viral entry into host cell (GO:0046597)|negative regulation of viral release from host cell (GO:1902187)|pattern recognition receptor signaling pathway (GO:0002221)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein K63-linked ubiquitination (GO:0070534)|protein trimerization (GO:0070206)|regulation of lipopolysaccharide-mediated signaling pathway (GO:0031664)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	identical protein binding (GO:0042802)|ligase activity (GO:0016874)|protein homodimerization activity (GO:0042803)|signaling pattern recognition receptor activity (GO:0008329)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)|Lung NSC(207;0.138)|all_lung(207;0.221)		Epithelial(150;7.21e-09)|BRCA - Breast invasive adenocarcinoma(625;0.139)		AGGCCGTATGTTCTCAGGCTG	0.527																																						ENST00000305836.5																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21						c.(196-198)aAc>aCc		tripartite motif containing 5							154	134	141					11																	5701211		2201	4297	6498	SO:0001583	missense	85363				interspecies interaction between organisms|protein trimerization|response to virus	cytoplasm|cytoplasmic mRNA processing body	ligase activity|protein binding|protein homodimerization activity|zinc ion binding	g.chr11:5701211T>G	AF220025	CCDS31392.1, CCDS31393.1, CCDS31394.1	11p15	2014-06-03	2011-01-25		ENSG00000132256	ENSG00000132256		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	16276	protein-coding gene	gene with protein product	"tripartite motif protein TRIM5", "tripartite motif protein TRIM"	608487	"tripartite motif-containing 5"			11331580	Standard	NM_033034		Approved	RNF88, TRIM5alpha	uc001mbm.2	Q9C035	OTTHUMG00000066893	ENST00000380034.3:c.197A>C	11.37:g.5701211T>G	ENSP00000369373:p.Asn66Thr					TRIM5_ENST00000396847.3_Missense_Mutation_p.N66T|TRIM5_ENST00000380034.3_Missense_Mutation_p.N66T|TRIM5_ENST00000396853.4_Missense_Mutation_p.N66T|TRIM5_ENST00000396855.3_Missense_Mutation_p.N66T|TRIM5_ENST00000380027.1_Missense_Mutation_p.N66T	p.N66T			Q9C035	TRIM5_HUMAN		Epithelial(150;7.21e-09)|BRCA - Breast invasive adenocarcinoma(625;0.139)	2	499	-		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)|Lung NSC(207;0.138)|all_lung(207;0.221)	66					A6NGQ1|A8WFA8|D3DQS8|D3DQS9|G3GJY1|Q2MLV4|Q2MLV8|Q2MLV9|Q2MLW1|Q2MLW3|Q2MLW4|Q2MLW6|Q2MLW7|Q2MLX1|Q2MLX2|Q2MLX3|Q2MLX5|Q2MLY3|Q2MLY4|Q2V6Q6|Q6GX26|Q8WU46|Q96SR5|Q9C031|Q9C032|Q9C033|Q9C034	Missense_Mutation	SNP	ENST00000380034.3	37	c.197A>C	CCDS31393.1	.	.	.	.	.	.	.	.	.	.	T	9.611	1.131210	0.21041	.	.	ENSG00000132256	ENST00000396855;ENST00000305836;ENST00000380034;ENST00000380027;ENST00000396847;ENST00000396853;ENST00000412903;ENST00000419850	D;D;D;D;D;D;D;D	0.84146	-1.81;-1.81;-1.81;-1.81;-1.81;-1.81;-1.81;-1.81	4.07	2.95	0.34219	Zinc finger, RING/FYVE/PHD-type (1);	0.324035	0.27088	N	0.020983	D	0.89504	0.6734	M	0.82433	2.59	0.09310	N	1	D;D;D	0.71674	0.985;0.971;0.998	P;P;D	0.64687	0.844;0.786;0.928	T	0.80665	-0.1281	10	0.87932	D	0	.	3.4722	0.07571	0.1971:0.1061:0.0:0.6968	.	66;66;66	Q9C035-3;Q9C035-4;Q9C035	.;.;TRIM5_HUMAN	T	66	ENSP00000380064:N66T;ENSP00000307031:N66T;ENSP00000369373:N66T;ENSP00000369366:N66T;ENSP00000380058:N66T;ENSP00000380062:N66T;ENSP00000388031:N66T;ENSP00000388150:N66T	ENSP00000307031:N66T	N	-	2	0	TRIM5	5657787	0.000000	0.05858	0.010000	0.14722	0.006000	0.05464	0.089000	0.15002	0.915000	0.36847	0.528000	0.53228	AAC		0.527	TRIM5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000143360.3	NM_033034		4	106	0	0	0	1	0	4	106					G	5701211	T	G	5701211	3	3	229	1	0	0	0	0	1	0	0	0	16522	1725	60	5	1551	5	TRIM5	11	5701211	Missense_Mutation	SNP	T	TCGA-HC-8256-01A-11D-2260-08		5701211	129305305	21	10647											
F2	2147	broad.mit.edu	37	chr11	46747681	46747681	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcgtgtggtgctatgtggccGggaagcctggcgactttggg	4	10	19	8	3	0	0	0	0	0	0	0	2	0	1	2	5	2	1	2	5	2	2			TCGA-HC-8256-01A-11D-2260-08	TCGA-HC-8256-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e9272d1-8ef5-42c5-933e-c466a8f22479	f1e42f84-82bb-4e9a-9093-d8dc73dc6653	g.chr11:46747681G>A	ENST00000311907.5	+	7	888	c.832G>A	c.(832-834)Ggg>Agg	p.G278R	F2_ENST00000530231.1_Missense_Mutation_p.G278R	NM_000506.3	NP_000497.1	P00734	THRB_HUMAN	coagulation factor II (thrombin)	278	Kringle 2. {ECO:0000255|PROSITE- ProRule:PRU00121}.				acute-phase response (GO:0006953)|blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell surface receptor signaling pathway (GO:0007166)|cellular protein metabolic process (GO:0044267)|cytosolic calcium ion homeostasis (GO:0051480)|fibrinolysis (GO:0042730)|leukocyte migration (GO:0050900)|multicellular organismal development (GO:0007275)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of fibrinolysis (GO:0051918)|negative regulation of platelet activation (GO:0010544)|negative regulation of proteolysis (GO:0045861)|peptidyl-glutamic acid carboxylation (GO:0017187)|platelet activation (GO:0030168)|positive regulation of blood coagulation (GO:0030194)|positive regulation of cell growth (GO:0030307)|positive regulation of cell proliferation (GO:0008284)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C-activating G-protein coupled receptor signaling pathway (GO:1900738)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|post-translational protein modification (GO:0043687)|proteolysis (GO:0006508)|regulation of blood coagulation (GO:0030193)|regulation of cell shape (GO:0008360)|response to wounding (GO:0009611)	blood microparticle (GO:0072562)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|growth factor activity (GO:0008083)|receptor binding (GO:0005102)|serine-type endopeptidase activity (GO:0004252)|thrombospondin receptor activity (GO:0070053)			endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)	27		all_lung(304;0.000414)|Lung NSC(402;0.0011)		BRCA - Breast invasive adenocarcinoma(625;0.146)	Antihemophilic Factor(DB00025)|Argatroban(DB00278)|ART-123(DB05777)|Bivalirudin(DB00006)|Coagulation Factor IX(DB00100)|Dabigatran etexilate(DB06695)|Drotrecogin alfa(DB00055)|Lepirudin(DB00001)|Menadione(DB00170)|Proflavine(DB01123)|Suramin(DB04786)|Ximelagatran(DB04898)	CTATGTGGCCGGGAAGCCTGG	0.587																																					Esophageal Squamous(147;1147 1808 2148 38609 51144)	ENST00000311907.5																			0				endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)	27						c.(832-834)Ggg>Agg		coagulation factor II (thrombin)	Antihemophilic Factor(DB00025)|Argatroban(DB00278)|Bivalirudin(DB00006)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)|Enoxaparin(DB01225)|Heparin(DB01109)|Lepirudin(DB00001)|Menadione(DB00170)|Proflavine(DB01123)|Simvastatin(DB00641)|Suramin(DB04786)|Warfarin(DB00682)|Ximelagatran(DB04898)						74	85	81					11																	46747681		2201	4299	6500	SO:0001583	missense	2147				activation of caspase activity|acute-phase response|blood coagulation, intrinsic pathway|cell surface receptor linked signaling pathway|cytosolic calcium ion homeostasis|fibrinolysis|leukocyte migration|negative regulation of astrocyte differentiation|negative regulation of fibrinolysis|negative regulation of platelet activation|negative regulation of proteolysis|peptidyl-glutamic acid carboxylation|platelet activation|positive regulation of collagen biosynthetic process|positive regulation of protein phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of release of sequestered calcium ion into cytosol|post-translational protein modification|proteolysis|STAT protein import into nucleus|tyrosine phosphorylation of STAT protein	cytosol|endoplasmic reticulum lumen|extracellular space|Golgi lumen|plasma membrane|soluble fraction	calcium ion binding|growth factor activity|serine-type endopeptidase activity|thrombospondin receptor activity	g.chr11:46747681G>A	M33031	CCDS31476.1	11p11.2	2013-02-28			ENSG00000180210	ENSG00000180210	3.4.21.5	"Endogenous ligands"	3535	protein-coding gene	gene with protein product	"prepro-coagulation factor II"	176930					Standard	NM_000506		Approved		uc001ndf.4	P00734	OTTHUMG00000150344	ENST00000311907.5:c.832G>A	11.37:g.46747681G>A	ENSP00000308541:p.Gly278Arg					F2_ENST00000530231.1_Missense_Mutation_p.G278R	p.G278R	NM_000506.3	NP_000497.1	P00734	THRB_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.146)	7	888	+		all_lung(304;0.000414)|Lung NSC(402;0.0011)	278			Kringle 2.		B2R7F7|B4E1A7|Q4QZ40|Q53H04|Q53H06|Q69EZ7|Q7Z7P3|Q9UCA1	Missense_Mutation	SNP	ENST00000311907.5	37	c.832G>A	CCDS31476.1	.	.	.	.	.	.	.	.	.	.	G	6.567	0.472892	0.12461	.	.	ENSG00000180210	ENST00000311907;ENST00000530231;ENST00000442468	T;T;T	0.80566	-1.39;-1.39;-1.39	5.37	4.44	0.53790	Kringle (4);Kringle-like fold (1);	0.816703	0.11694	N	0.538607	T	0.81197	0.4772	M	0.62723	1.935	0.09310	N	1	P	0.40180	0.705	B	0.40864	0.342	T	0.72730	-0.4205	10	0.87932	D	0	.	14.6998	0.69147	0.0:0.2743:0.7257:0.0	.	278	P00734	THRB_HUMAN	R	278;278;268	ENSP00000308541:G278R;ENSP00000433907:G278R;ENSP00000387413:G268R	ENSP00000308541:G278R	G	+	1	0	F2	46704257	0.002000	0.14202	0.003000	0.11579	0.269000	0.26545	0.938000	0.28965	1.232000	0.43678	0.563000	0.77884	GGG		0.587	F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317706.1			3	117	0	0	0	1	0	3	117					A	46747681	G	A	46747681	3	1	229	1	0	0	0	0	1	0	0	0	5342	1116	39	2	858	2	F2	11	46747681	Missense_Mutation	SNP	G	TCGA-HC-8256-01A-11D-2260-08	41046470	46747681	88258835	22	10648											
DDX47	51202	broad.mit.edu	37	chr12	12980209	12980226	+	In_Frame_Del	DEL	AACACTTAATTGGGAAGA	AACACTTAATTGGGAAGA	-																															ggaactcttccagcgcatagAacacttaattgggaagaaac																										TCGA-HC-8256-01A-11D-2260-08	TCGA-HC-8256-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e9272d1-8ef5-42c5-933e-c466a8f22479	f1e42f84-82bb-4e9a-9093-d8dc73dc6653	g.chr12:12980209_12980226delAACACTTAATTGGGAAGA	ENST00000358007.3	+	11	1158_1175	c.1136_1153delAACACTTAATTGGGAAGA	c.(1135-1155)gaacacttaattgggaagaaa>gaa	p.HLIGKK380del	DDX47_ENST00000352940.4_In_Frame_Del_p.HLIGKK331del	NM_016355.3	NP_057439.2	Q9H0S4	DDX47_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 47	380	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|mRNA processing (GO:0006397)|RNA splicing (GO:0008380)|rRNA processing (GO:0006364)	membrane (GO:0016020)|nucleolus (GO:0005730)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16		Prostate(47;0.0526)		BRCA - Breast invasive adenocarcinoma(232;0.0354)		CAGCGCATAGAACACTTAATTGGGAAGAAACTACCAGG	0.454																																						ENST00000358007.3																			0				breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16						c.(1135-1155)gaa>g		DEAD (Asp-Glu-Ala-Asp) box polypeptide 47																																				SO:0001651	inframe_deletion	51202					nucleolus	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding	g.chr12:12980209_12980226delAACACTTAATTGGGAAGA	AK127712	CCDS8655.1, CCDS8656.1	12p13.2	2010-07-06			ENSG00000213782	ENSG00000213782		"DEAD-boxes"	18682	protein-coding gene	gene with protein product		615428					Standard	NM_016355		Approved	DKFZp564O176, FLJ30012, HQ0256, RRP3	uc001rax.3	Q9H0S4	OTTHUMG00000168709	ENST00000358007.3:c.1136_1153delAACACTTAATTGGGAAGA	12.37:g.12980209_12980226delAACACTTAATTGGGAAGA	ENSP00000350698:p.His380_Lys385del					RP11-59H1.3_ENST00000534843.1_3'UTR|DDX47_ENST00000352940.4_In_Frame_Del_p.EHLIGKK330del	p.EHLIGKK379del	NM_016355.3	NP_057439.2	Q9H0S4	DDX47_HUMAN		BRCA - Breast invasive adenocarcinoma(232;0.0354)	11	1158_1175	+		Prostate(47;0.0526)	379			Helicase C-terminal.		B3KXP4|G5E955|Q96GM0|Q96NV8|Q9UI98	In_Frame_Del	DEL	ENST00000358007.3	37	c.1136_1153delAACACTTAATTGGGAAGA	CCDS8655.1																																																																																				0.454	DDX47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400674.1	NM_016355		11	72						11	72	---	---	---	---	-	12980226	AACACTTAATTGGGAAGA	-	12980209	7	5	229	1	0	1	0	1	0	0	0	0	4365	246	9	0	1178	0	DDX47	12	12980209	In_Frame_Del	DEL	AACACTTAATTGGGAAGA	TCGA-HC-8256-01A-11D-2260-08		12980209	120871686	23	10649											
FLJ10357	55701	broad.mit.edu	37	chr14	21542132	21542132	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttcttccatgaggggtggccGctctgcctgcatgaacaggt	6	11	13	11	1	2	2	0	2	2	0	3	2	3	2	3	4	3	2	3	4	1	2	rs114625560		TCGA-HC-8256-01A-11D-2260-08	TCGA-HC-8256-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e9272d1-8ef5-42c5-933e-c466a8f22479	f1e42f84-82bb-4e9a-9093-d8dc73dc6653	g.chr14:21542132G>A	ENST00000298694.4	+	3	370	c.243G>A	c.(241-243)ccG>ccA	p.P81P	ARHGEF40_ENST00000298693.3_Silent_p.P81P			Q8TER5	ARH40_HUMAN	Rho guanine nucleotide exchange factor (GEF) 40	81						cytoplasm (GO:0005737)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			large_intestine(4)|ovary(3)|upper_aerodigestive_tract(2)	9						AGGGGTGGCCGCTCTGCCTGC	0.617													G|||	1	0.000199681	0	0	5008	,	,		18742	0.001		0	False		,,,				2504	0					ENST00000298694.4																			0				large_intestine(4)|ovary(3)|upper_aerodigestive_tract(2)	9						c.(241-243)ccG>ccA		Rho guanine nucleotide exchange factor (GEF) 40							62	64	63					14																	21542132		2203	4300	6503	SO:0001819	synonymous_variant	55701				regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity	g.chr14:21542132G>A		CCDS32041.1	14q11.2	2012-07-24			ENSG00000165801	ENSG00000165801		"Rho guanine nucleotide exchange factors"	25516	protein-coding gene	gene with protein product		610018				16143467	Standard	NM_001278529		Approved	solo, FLJ10357	uc001vzp.3	Q8TER5		ENST00000298694.4:c.243G>A	14.37:g.21542132G>A						ARHGEF40_ENST00000298693.3_Silent_p.P81P	p.P81P			Q8TER5	ARH40_HUMAN			3	370	+			81					A5PL07|Q9BWP5|Q9H7L6|Q9NTF9|Q9NW24	Silent	SNP	ENST00000298694.4	37	c.243G>A	CCDS32041.1																																																																																				0.617	ARHGEF40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413122.1			3	98	0	0	0	1	0	3	98					A	21542132	G	A	21542132	2	1	229	1	0	0	0	0	0	0	0	1	5926	1074	38	1		1	FLJ10357	14	21542132	Silent	SNP	G	TCGA-HC-8256-01A-11D-2260-08		21542132	85807408	24	10650											
SDCCAG1	9147	broad.mit.edu	37	chr14	50251653	50251653	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agaactttacctttacgctgCggaataagtctttttctctt	9	17	6	9	2	2	1	0	0	2	1	3	2	2	2	1	1	4	1	1	1	5	8			TCGA-HC-8256-01A-11D-2260-08	TCGA-HC-8256-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e9272d1-8ef5-42c5-933e-c466a8f22479	f1e42f84-82bb-4e9a-9093-d8dc73dc6653	g.chr14:50251653C>T	ENST00000298310.5	-	32	3592	c.3143G>A	c.(3142-3144)cGc>cAc	p.R1048H	NEMF_ENST00000546046.1_Missense_Mutation_p.R1027H|NEMF_ENST00000556925.1_5'UTR|NEMF_ENST00000545773.1_Missense_Mutation_p.R1006H|NEMF_ENST00000382135.2_Missense_Mutation_p.R248H			O60524	NEMF_HUMAN	nuclear export mediator factor	1048					nuclear export (GO:0051168)	nucleus (GO:0005634)				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(13)|liver(1)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	36						CTTTACGCTGCGGAATAAGTC	0.333																																						ENST00000298310.5																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(13)|liver(1)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	36						c.(3142-3144)cGc>cAc		nuclear export mediator factor							97	103	101					14																	50251653		2203	4300	6503	SO:0001583	missense	9147					cytoplasm|nucleus		g.chr14:50251653C>T	AF039687	CCDS9694.1	14q21.3	2012-11-19	2011-01-31	2011-01-31	ENSG00000165525	ENSG00000165525			10663	protein-coding gene	gene with protein product		608378	"serologically defined colon cancer antigen 1"	SDCCAG1		9610721, 10575219	Standard	XR_429334		Approved	NY-CO-1, FLJ10051	uc001wxc.3	O60524	OTTHUMG00000170857	ENST00000298310.5:c.3143G>A	14.37:g.50251653C>T	ENSP00000298310:p.Arg1048His					NEMF_ENST00000546046.1_Missense_Mutation_p.R1027H|NEMF_ENST00000382135.2_Missense_Mutation_p.R248H|NEMF_ENST00000545773.1_Missense_Mutation_p.R1006H|NEMF_ENST00000556925.1_5'UTR	p.R1048H			O60524	NEMF_HUMAN			32	3592	-			1048					A0JLQ3|B3KSK1|B4DDL3|B4DHA9|B4E3F3|Q32Q66|Q8WW70|Q9NWG1	Missense_Mutation	SNP	ENST00000298310.5	37	c.3143G>A	CCDS9694.1	.	.	.	.	.	.	.	.	.	.	C	29.2	4.982308	0.93044	.	.	ENSG00000165525	ENST00000298310;ENST00000545773;ENST00000382135;ENST00000546046	T;T;T	0.50001	0.77;0.77;0.76	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	T	0.72755	0.3500	M	0.81802	2.56	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.982;0.988;0.982;0.999;0.996	T	0.75102	-0.3436	10	0.87932	D	0	-6.096	20.0368	0.97565	0.0:1.0:0.0:0.0	.	1027;1023;1006;1048;248	O60524-3;O60524-5;O60524-4;O60524;O60524-2	.;.;.;NEMF_HUMAN;.	H	1048;1006;248;1027	ENSP00000298310:R1048H;ENSP00000438309:R1006H;ENSP00000441016:R1027H	ENSP00000298310:R1048H	R	-	2	0	NEMF	49321403	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.958000	0.76025	2.818000	0.97014	0.591000	0.81541	CGC		0.333	NEMF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410798.1	NM_004713		15	65	0	0	0	1	0	15	65					T	50251653	C	T	50251653	3	4	229	1	0	0	0	0	1	0	0	0	13957	768	27	1	95	1	SDCCAG1	14	50251653	Missense_Mutation	SNP	C	TCGA-HC-8256-01A-11D-2260-08	28709521	50251653	57097887	25	10651											
FAM82A2	55177	broad.mit.edu	37	chr15	41029893	41029893	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tttcaagcaaggctgtagcaGtttttttttctagccagctc	8	16	8	9	0	2	0	1	0	1	0	3	0	2	0	1	1	4	6	1	1	4	7			TCGA-HC-8256-01A-11D-2260-08	TCGA-HC-8256-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e9272d1-8ef5-42c5-933e-c466a8f22479	f1e42f84-82bb-4e9a-9093-d8dc73dc6653	g.chr15:41029893G>T	ENST00000260385.6	-	9	2224	c.1157C>A	c.(1156-1158)aCt>aAt	p.T386N	RMDN3_ENST00000338376.3_Missense_Mutation_p.T386N|RMDN3_ENST00000558560.1_5'UTR			Q96TC7	RMD3_HUMAN	regulator of microtubule dynamics 3	386					apoptotic process (GO:0006915)|cell differentiation (GO:0030154)|cellular calcium ion homeostasis (GO:0006874)	integral component of membrane (GO:0016021)|microtubule (GO:0005874)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)											GGCTGTAGCAGTTTTTTTTTC	0.453																																						ENST00000260385.6																			0											c.(1156-1158)aCt>aAt		regulator of microtubule dynamics 3							50	50	50					15																	41029893		2203	4300	6503	SO:0001583	missense	55177							g.chr15:41029893G>T	AK001441	CCDS10063.1	15q15.1	2013-01-11	2013-01-11	2013-01-11	ENSG00000137824	ENSG00000137824			25550	protein-coding gene	gene with protein product		611873	"family with sequence similarity 82, member A2"	FAM82C, FAM82A2		12975309	Standard	XM_005254531		Approved	FLJ10579, PTPIP51, RMD3	uc001zmp.1	Q96TC7	OTTHUMG00000130066	ENST00000260385.6:c.1157C>A	15.37:g.41029893G>T	ENSP00000260385:p.Thr386Asn					RMDN3_ENST00000558560.1_5'UTR|RMDN3_ENST00000338376.3_Missense_Mutation_p.T386N	p.T386N							9	2224	-								A9UMZ9|B3KRR3|Q6ZWE9|Q96H23|Q96SD6|Q9H6G1|Q9NVQ6	Missense_Mutation	SNP	ENST00000260385.6	37	c.1157C>A	CCDS10063.1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.324220	0.81580	.	.	ENSG00000137824	ENST00000260385;ENST00000338376;ENST00000426872	T;T	0.35421	1.31;1.31	5.3	5.3	0.74995	Tetratricopeptide-like helical (1);	0.099727	0.64402	D	0.000001	T	0.56262	0.1973	M	0.68317	2.08	0.42538	D	0.993065	D	0.64830	0.994	D	0.64042	0.921	T	0.51849	-0.8653	10	0.28530	T	0.3	-11.9742	17.7328	0.88383	0.0:0.0:1.0:0.0	.	386	Q96TC7	RMD3_HUMAN	N	386;386;323	ENSP00000260385:T386N;ENSP00000342493:T386N	ENSP00000260385:T386N	T	-	2	0	FAM82A2	38817185	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.935000	0.63498	2.454000	0.82982	0.561000	0.74099	ACT		0.453	RMDN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252357.1	NM_018145		5	34	1	0	1.76689e-08	1	2.04405e-08	5	34					T	41029893	G	T	41029893	3	4	229	1	0	0	0	0	1	0	0	0	5631	1029	36	5	271	5	FAM82A2	15	41029893	Missense_Mutation	SNP	G	TCGA-HC-8256-01A-11D-2260-08		41029893	61501499	26	10652											
ZNF592	9640	broad.mit.edu	37	chr15	85327345	85327345	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tgccccaggctcacagacagGcaagaagcaacagagcacag	15	2	11	13	0	1	3	1	0	0	3	1	3	1	3	2	2	4	4	2	2	3	0			TCGA-HC-8256-01A-11D-2260-08	TCGA-HC-8256-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e9272d1-8ef5-42c5-933e-c466a8f22479	f1e42f84-82bb-4e9a-9093-d8dc73dc6653	g.chr15:85327345G>T	ENST00000560079.2	+	4	1727	c.1439G>T	c.(1438-1440)gGc>gTc	p.G480V	ZNF592_ENST00000299927.3_Missense_Mutation_p.G480V	NM_014630.2	NP_055445.2	Q92610	ZN592_HUMAN	zinc finger protein 592	480					cell death (GO:0008219)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(2)|kidney(1)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(143;0.0587)			TCACAGACAGGCAAGAAGCAA	0.632																																						ENST00000299927.3																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	40						c.(1438-1440)gGc>gTc		zinc finger protein 592							53	44	47					15																	85327345		2203	4299	6502	SO:0001583	missense	9640				cell death|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr15:85327345G>T	D86966	CCDS32317.1	15q25.2	2011-03-15				ENSG00000166716		"Zinc fingers, C2H2-type"	28986	protein-coding gene	gene with protein product		613624	"spinocerebellar ataxia, autosomal recessive 5"	SCAR5		9039502, 12030328, 20531441	Standard	NM_014630		Approved	KIAA0211, CAMOS	uc002bld.3	Q92610		ENST00000560079.2:c.1439G>T	15.37:g.85327345G>T	ENSP00000452877:p.Gly480Val					ZNF592_ENST00000560079.2_Missense_Mutation_p.G480V	p.G480V			Q92610	ZN592_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0587)		1	1461	+			480					Q2M1T2|Q504Y9	Missense_Mutation	SNP	ENST00000560079.2	37	c.1439G>T	CCDS32317.1	.	.	.	.	.	.	.	.	.	.	G	8.873	0.949646	0.18431	.	.	ENSG00000166716	ENST00000299927	T	0.00603	6.28	4.91	4.91	0.64330	.	0.830112	0.11325	N	0.575654	T	0.00412	0.0013	N	0.01874	-0.695	0.58432	D	0.999998	B	0.30361	0.277	B	0.29942	0.109	T	0.81161	-0.1059	10	0.25751	T	0.34	-18.5215	15.6232	0.76824	0.0:0.0:1.0:0.0	.	480	Q92610	ZN592_HUMAN	V	480	ENSP00000299927:G480V	ENSP00000299927:G480V	G	+	2	0	ZNF592	83128349	0.169000	0.23002	0.973000	0.42090	0.535000	0.34838	0.376000	0.20535	2.251000	0.74343	0.563000	0.77884	GGC		0.632	ZNF592-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418779.2	NM_014630		3	32	1	0	0.115264	1	0.119308	3	32					T	85327345	G	T	85327345	3	4	229	1	0	0	0	0	1	0	0	0	18019	1203	42	5	1441	5	ZNF592	15	85327345	Missense_Mutation	SNP	G	TCGA-HC-8256-01A-11D-2260-08	44297452	85327345	17204047	27	10653											
IGFALS	3483	broad.mit.edu	37	chr16	1842475	1842475	+	Intron	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agcctgataccagcacagccGgaagcggcgctcaggtgtga	10	5	14	12	3	1	2	1	2	0	0	1	3	1	3	3	3	5	2	3	3	2	1			TCGA-HC-8256-01A-11D-2260-08	TCGA-HC-8256-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e9272d1-8ef5-42c5-933e-c466a8f22479	f1e42f84-82bb-4e9a-9093-d8dc73dc6653	g.chr16:1842475G>A	ENST00000215539.3	-	2	127				IGFALS_ENST00000568221.1_Intron|IGFALS_ENST00000415638.3_Missense_Mutation_p.R20W			P35858	ALS_HUMAN	insulin-like growth factor binding protein, acid labile subunit						cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	insulin-like growth factor binding (GO:0005520)			endometrium(2)|lung(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	8						CAGCACAGCCGGAAGCGGCGC	0.682																																						ENST00000415638.3																			0				endometrium(2)|lung(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	8						c.(58-60)Cgg>Tgg		insulin-like growth factor binding protein, acid labile subunit							3	4	4					16																	1842475		625	1479	2104	SO:0001627	intron_variant	3483				cell adhesion|signal transduction	soluble fraction	insulin-like growth factor binding	g.chr16:1842475G>A	M86826	CCDS10446.1, CCDS53982.1	16p13.3	2008-07-28			ENSG00000099769	ENSG00000099769			5468	protein-coding gene	gene with protein product		601489				1379671, 16114275	Standard	NM_004970		Approved	ALS	uc010uvn.2	P35858	OTTHUMG00000128638	ENST00000215539.3:c.17-73C>T	16.37:g.1842475G>A						IGFALS_ENST00000568221.1_Intron|IGFALS_ENST00000215539.3_Intron	p.R20W	NM_001146006.1|NM_004970.2	NP_001139478.1|NP_004961.1	P35858	ALS_HUMAN			2	137	-			0					B4DZY8|E9PGU3	Missense_Mutation	SNP	ENST00000215539.3	37	c.58C>T	CCDS10446.1	.	.	.	.	.	.	.	.	.	.	G	15.10	2.733304	0.48939	.	.	ENSG00000099769	ENST00000415638	T	0.59224	0.28	3.28	-0.612	0.11597	.	.	.	.	.	T	0.33614	0.0869	N	0.08118	0	0.09310	N	0.999998	B	0.02656	0.0	B	0.01281	0.0	T	0.25117	-1.0141	9	0.87932	D	0	.	7.3339	0.26599	0.7104:0.0:0.2896:0.0	.	20	E9PGU3	.	W	20	ENSP00000416683:R20W	ENSP00000416683:R20W	R	-	1	2	IGFALS	1782476	0.000000	0.05858	0.000000	0.03702	0.029000	0.11900	-1.361000	0.02597	-0.110000	0.12022	-0.452000	0.05504	CGG		0.682	IGFALS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250509.2			2	6	0	0	0	1	0	2	6					A	1842475	G	A	1842475	1	1	229	0	1	0	0	0	0	0	0	0	7577	1115	39	2		2	IGFALS	16	1842475	Intron	SNP	G	TCGA-HC-8256-01A-11D-2260-08		1842475	88512278	28	10654											
PRSS27	83886	broad.mit.edu	37	chr16	2770147	2770147	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agcagcaggagcggcaccgcCgccggccgcctcatgtcctc	6	4	13	18	5	1	0	1	0	0	0	3	1	2	1	6	3	3	3	6	3	0	0			TCGA-HC-8256-01A-11D-2260-08	TCGA-HC-8256-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e9272d1-8ef5-42c5-933e-c466a8f22479	f1e42f84-82bb-4e9a-9093-d8dc73dc6653	g.chr16:2770147C>T	ENST00000302641.3	-	1	69	c.15G>A	c.(13-15)gcG>gcA	p.A5A		NM_031948.3	NP_114154.1	Q9BQR3	PRS27_HUMAN	protease, serine 27	5						extracellular region (GO:0005576)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)	8						GCGGCACCGCCGCCGGCCGCC	0.692																																						ENST00000302641.3																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)	8						c.(13-15)gcG>gcA		protease, serine 27							19	20	20					16																	2770147		2178	4264	6442	SO:0001819	synonymous_variant	83886				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr16:2770147C>T	AB056161	CCDS10476.1	16p13.3	2010-05-07			ENSG00000172382	ENSG00000172382		"Serine peptidases / Serine peptidases"	15475	protein-coding gene	gene with protein product		608018					Standard	NM_031948		Approved	MPN, pancreasin, CAPH2, marapsin	uc002crf.3	Q9BQR3	OTTHUMG00000128929	ENST00000302641.3:c.15G>A	16.37:g.2770147C>T							p.A5A	NM_031948.3	NP_114154.1	Q9BQR3	PRS27_HUMAN			1	69	-			5						Silent	SNP	ENST00000302641.3	37	c.15G>A	CCDS10476.1																																																																																				0.692	PRSS27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250908.1	NM_031948		4	4	0	0	0	1	0	4	4					T	2770147	C	T	2770147	2	4	229	1	0	0	0	0	0	0	0	1	12621	639	23	2		2	PRSS27	16	2770147	Silent	SNP	C	TCGA-HC-8256-01A-11D-2260-08	927672	2770147	87584606	29	10655											
SETD1A	9739	broad.mit.edu	37	chr16	30972685	30972685	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cttcctgaaggatatgtgccGtaagtacggtgaggtggaag	10	10	15	6	2	0	2	0	2	0	0	1	4	1	4	2	4	2	2	2	4	5	4			TCGA-HC-8256-01A-11D-2260-08	TCGA-HC-8256-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e9272d1-8ef5-42c5-933e-c466a8f22479	f1e42f84-82bb-4e9a-9093-d8dc73dc6653	g.chr16:30972685G>A	ENST00000262519.8	+	4	1030	c.344G>A	c.(343-345)cGt>cAt	p.R115H		NM_014712.1	NP_055527.1	O15047	SET1A_HUMAN	SET domain containing 1A	115	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.				histone H3-K4 methylation (GO:0051568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)	histone methyltransferase activity (H3-K4 specific) (GO:0042800)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(21)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	59						GATATGTGCCGTAAGTACGGT	0.567																																						ENST00000262519.8																			0				NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(21)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	59						c.(343-345)cGt>cAt		SET domain containing 1A							132	102	112					16																	30972685		2197	4300	6497	SO:0001583	missense	9739				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nuclear speck|Set1C/COMPASS complex	histone-lysine N-methyltransferase activity|nucleotide binding|protein binding|RNA binding	g.chr16:30972685G>A	AB002337	CCDS32435.1	16p11.2	2013-02-12			ENSG00000099381	ENSG00000099381		"Chromatin-modifying enzymes / K-methyltransferases", "RNA binding motif (RRM) containing"	29010	protein-coding gene	gene with protein product		611052				9205841, 12670868	Standard	XM_005255723		Approved	KIAA0339, Set1, KMT2F	uc002ead.1	O15047	OTTHUMG00000150474	ENST00000262519.8:c.344G>A	16.37:g.30972685G>A	ENSP00000262519:p.Arg115His						p.R115H	NM_014712.1	NP_055527.1	O15047	SET1A_HUMAN			4	1030	+			115			RRM.		A6NP62|Q6PIF3|Q8TAJ6	Missense_Mutation	SNP	ENST00000262519.8	37	c.344G>A	CCDS32435.1	.	.	.	.	.	.	.	.	.	.	G	16.79	3.220063	0.58560	.	.	ENSG00000099381	ENST00000262519;ENST00000452917	T;T	0.17370	2.28;2.28	5.36	5.36	0.76844	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.238124	0.36200	N	0.002734	T	0.28995	0.0720	L	0.39898	1.24	0.37228	D	0.905572	D	0.71674	0.998	P	0.62382	0.901	T	0.07947	-1.0746	10	0.72032	D	0.01	.	12.0373	0.53433	0.0839:0.0:0.9161:0.0	.	115	O15047	SET1A_HUMAN	H	115	ENSP00000262519:R115H;ENSP00000391408:R115H	ENSP00000262519:R115H	R	+	2	0	SETD1A	30880186	0.999000	0.42202	0.986000	0.45419	0.967000	0.64934	3.371000	0.52379	2.517000	0.84864	0.591000	0.81541	CGT		0.567	SETD1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318244.2	NM_014712		3	70	0	0	0	1	0	3	70					A	30972685	G	A	30972685	3	1	229	1	0	0	0	0	1	0	0	0	14130	1145	40	1	354	1	SETD1A	16	30972685	Missense_Mutation	SNP	G	TCGA-HC-8256-01A-11D-2260-08	28202538	30972685	59382068	30	10656											
ASPA	443	broad.mit.edu	37	chr17	3379480	3379480	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcttgtcacattgctgaagaAcatatacaaaaggttgctat	14	13	7	7	0	2	2	1	1	1	1	2	2	2	2	0	1	4	3	0	1	7	6			TCGA-HC-8256-01A-11D-2260-08	TCGA-HC-8256-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e9272d1-8ef5-42c5-933e-c466a8f22479	f1e42f84-82bb-4e9a-9093-d8dc73dc6653	g.chr17:3379480A>G	ENST00000263080.2	+	1	185	c.27A>G	c.(25-27)gaA>gaG	p.E9E	ASPA_ENST00000456349.2_Silent_p.E9E|SPATA22_ENST00000541913.1_Intron	NM_000049.2	NP_000040.1	P45381	ACY2_HUMAN	aspartoacylase	9					aspartate catabolic process (GO:0006533)|central nervous system myelination (GO:0022010)|positive regulation of oligodendrocyte differentiation (GO:0048714)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	aminoacylase activity (GO:0004046)|aspartoacylase activity (GO:0019807)|hydrolase activity, acting on ester bonds (GO:0016788)|metal ion binding (GO:0046872)			breast(2)|endometrium(2)|large_intestine(6)|lung(5)|stomach(1)|urinary_tract(1)	17					L-Aspartic Acid(DB00128)	TTGCTGAAGAACATATACAAA	0.383																																						ENST00000263080.2																			0				breast(2)|endometrium(2)|large_intestine(6)|lung(5)|stomach(1)|urinary_tract(1)	17						c.(25-27)gaA>gaG		aspartoacylase	L-Aspartic Acid(DB00128)						113	111	112					17																	3379480		2203	4300	6503	SO:0001819	synonymous_variant	443				aspartate catabolic process	cytoplasm|nucleus	aminoacylase activity|aspartoacylase activity|hydrolase activity, acting on ester bonds|metal ion binding	g.chr17:3379480A>G	S67156	CCDS11028.1	17p13.3	2010-06-24	2010-06-24		ENSG00000108381	ENSG00000108381	3.5.1.15		756	protein-coding gene	gene with protein product	"aminoacylase 2", "Canavan disease"	608034	"aspartoacylase (aminoacylase 2, Canavan disease)"			8252036	Standard	NM_001128085		Approved	ASP, ACY2	uc002fvq.3	P45381	OTTHUMG00000090655	ENST00000263080.2:c.27A>G	17.37:g.3379480A>G						ASPA_ENST00000456349.2_Silent_p.E9E|SPATA22_ENST00000541913.1_Intron	p.E9E	NM_000049.2	NP_000040.1	P45381	ACY2_HUMAN			1	185	+			9						Silent	SNP	ENST00000263080.2	37	c.27A>G	CCDS11028.1																																																																																				0.383	ASPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207315.1	NM_000049		21	86	0	0	0	1	0	21	86					G	3379480	A	G	3379480	2	3	229	1	0	0	0	0	0	0	0	1	1050	40	2	4		4	ASPA	17	3379480	Silent	SNP	A	TCGA-HC-8256-01A-11D-2260-08		3379480	77815730	31	10657											
MYH1	4619	broad.mit.edu	37	chr17	10404784	10404784	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcccgggaggcccgctctgcCtcgatttcctcctccagctc	3	9	10	19	3	1	0	0	0	1	0	6	2	4	1	6	2	2	2	6	2	0	1			TCGA-HC-8256-01A-11D-2260-08	TCGA-HC-8256-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e9272d1-8ef5-42c5-933e-c466a8f22479	f1e42f84-82bb-4e9a-9093-d8dc73dc6653	g.chr17:10404784C>T	ENST00000226207.5	-	27	3475	c.3381G>A	c.(3379-3381)gaG>gaA	p.E1127E	RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA|CTC-297N7.11_ENST00000587182.2_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	1127					muscle contraction (GO:0006936)	A band (GO:0031672)|cytoplasmic ribonucleoprotein granule (GO:0036464)|intercalated disc (GO:0014704)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						CCCGCTCTGCCTCGATTTCCT	0.542																																						ENST00000226207.5																			0				NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						c.(3379-3381)gaG>gaA		myosin, heavy chain 1, skeletal muscle, adult							36	41	39					17																	10404784		2203	4294	6497	SO:0001819	synonymous_variant	4619					muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity	g.chr17:10404784C>T		CCDS11155.1	17p13.1	2013-09-19	2006-09-29		ENSG00000109061	ENSG00000109061		"Myosins / Myosin superfamily : Class II"	7567	protein-coding gene	gene with protein product	"myosin heavy chain IIx/d"	160730	"myosin, heavy polypeptide 1, skeletal muscle, adult"			6304733	Standard	NM_005963		Approved	MYHSA1, MYHa, MyHC-2X/D, MGC133384	uc002gmo.3	P12882	OTTHUMG00000130362	ENST00000226207.5:c.3381G>A	17.37:g.10404784C>T						CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA	p.E1127E	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN			27	3475	-			1127					Q14CA4|Q9Y622	Silent	SNP	ENST00000226207.5	37	c.3381G>A	CCDS11155.1																																																																																				0.542	MYH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252725.1	NM_005963		3	51	0	0	0	1	0	3	51					T	10404784	C	T	10404784	2	4	229	1	0	0	0	0	0	0	0	1	10029	680	24	3		3	MYH1	17	10404784	Silent	SNP	C	TCGA-HC-8256-01A-11D-2260-08	7025304	10404784	70790426	32	10658											
GGNBP2	79893	broad.mit.edu	37	chr17	34934521	34934521	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgcactttatgaaggcttGcggtgctgtccacatgaacg	8	11	12	10	2	0	2	0	2	0	0	1	2	1	2	1	2	4	4	1	2	3	3			TCGA-HC-8256-01A-11D-2260-08	TCGA-HC-8256-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e9272d1-8ef5-42c5-933e-c466a8f22479	f1e42f84-82bb-4e9a-9093-d8dc73dc6653	g.chr17:34934521G>A	ENST00000304718.4	+	7	1066	c.750G>A	c.(748-750)ttG>ttA	p.L250L		NM_024835.3	NP_079111.1	Q9H3C7	GGNB2_HUMAN	gametogenetin binding protein 2	250					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasmic vesicle (GO:0031410)|nucleus (GO:0005634)				breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(1)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(1)	38		Breast(25;0.00957)|Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0193)		ATGAAGGCTTGCGGTGCTGTC	0.458																																						ENST00000304718.4																			0				breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(1)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(1)	38						c.(748-750)ttG>ttA		gametogenetin binding protein 2							196	181	186					17																	34934521		2203	4300	6503	SO:0001819	synonymous_variant	79893				cell differentiation|multicellular organismal development|spermatogenesis	cytoplasmic membrane-bounded vesicle		g.chr17:34934521G>A	AF126964	CCDS11314.1	17q21.1	2014-05-06	2007-08-20	2007-08-20	ENSG00000005955	ENSG00000278311			19357	protein-coding gene	gene with protein product		612275	"zinc finger protein 403"	ZNF403		11728448	Standard	NM_024835		Approved	ZFP403, LZK1, FLJ22561, FLJ21230, DIF-3, DIF3	uc002hnb.3	Q9H3C7	OTTHUMG00000188440	ENST00000304718.4:c.750G>A	17.37:g.34934521G>A							p.L250L	NM_024835.3	NP_079111.1	Q9H3C7	GGNB2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0193)	7	1066	+		Breast(25;0.00957)|Ovarian(249;0.17)	250					B2RPK7|Q96T90|Q9GZR8|Q9H767	Silent	SNP	ENST00000304718.4	37	c.750G>A	CCDS11314.1																																																																																				0.458	GGNBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256684.2	NM_024835		67	152	0	0	0	1	0	67	152					A	34934521	G	A	34934521	2	1	229	1	0	0	0	0	0	0	0	1	6359	1310	46	3		3	GGNBP2	17	34934521	Silent	SNP	G	TCGA-HC-8256-01A-11D-2260-08	24529737	34934521	46260689	33	10659											
CNTNAP1	8506	broad.mit.edu	37	chr17	40847632	40847632	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagttctcccacatgctgaGccggccagtgccaggctatg	7	8	13	13	1	1	1	0	1	1	0	2	2	1	2	4	3	3	3	4	3	1	2			TCGA-HC-8256-01A-11D-2260-08	TCGA-HC-8256-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e9272d1-8ef5-42c5-933e-c466a8f22479	f1e42f84-82bb-4e9a-9093-d8dc73dc6653	g.chr17:40847632G>T	ENST00000264638.4	+	19	3303	c.3086G>T	c.(3085-3087)aGc>aTc	p.S1029I	CTD-3193K9.3_ENST00000592440.1_RNA	NM_003632.2	NP_003623.1	P78357	CNTP1_HUMAN	contactin associated protein 1	1029					axon cargo transport (GO:0008088)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cytoskeleton organization (GO:0007010)|neuromuscular process controlling balance (GO:0050885)|neuromuscular process controlling posture (GO:0050884)|neuron projection morphogenesis (GO:0048812)|neuronal action potential propagation (GO:0019227)|paranodal junction assembly (GO:0030913)|positive regulation of signal transduction (GO:0009967)|protein localization to paranode region of axon (GO:0002175)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|paranode region of axon (GO:0033270)|voltage-gated potassium channel complex (GO:0008076)	receptor activity (GO:0004872)|SH3 domain binding (GO:0017124)|SH3/SH2 adaptor activity (GO:0005070)	p.S1029I(1)		NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|lung(15)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.143)		CACATGCTGAGCCGGCCAGTG	0.617																																						ENST00000264638.4																			1	Substitution - Missense(1)	p.S1029I(1)	lung(1)	NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|lung(15)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						c.(3085-3087)aGc>aTc		contactin associated protein 1							46	48	47					17																	40847632		2202	4300	6502	SO:0001583	missense	8506				axon guidance|cell adhesion	paranode region of axon	receptor activity|receptor binding|SH3 domain binding|SH3/SH2 adaptor activity	g.chr17:40847632G>T	U87223	CCDS11436.1	17q21	2008-07-18				ENSG00000108797			8011	protein-coding gene	gene with protein product	"neurexin 4"	602346		NRXN4		9118959	Standard	NM_003632		Approved	p190, Caspr, CNTNAP	uc002iay.3	P78357		ENST00000264638.4:c.3086G>T	17.37:g.40847632G>T	ENSP00000264638:p.Ser1029Ile					CTD-3193K9.3_ENST00000592440.1_RNA	p.S1029I	NM_003632.2	NP_003623.1	P78357	CNTP1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.143)	19	3303	+		Breast(137;0.000143)	1029						Missense_Mutation	SNP	ENST00000264638.4	37	c.3086G>T	CCDS11436.1	.	.	.	.	.	.	.	.	.	.	G	15.11	2.737350	0.49045	.	.	ENSG00000108797	ENST00000264638	D	0.90504	-2.68	4.99	4.02	0.46733	Concanavalin A-like lectin/glucanase (1);	0.000000	0.85682	D	0.000000	T	0.80105	0.4562	N	0.14661	0.345	0.36034	D	0.839592	B	0.19073	0.033	B	0.14023	0.01	T	0.75897	-0.3155	10	0.22109	T	0.4	.	9.4603	0.38781	0.0961:0.0:0.9039:0.0	.	1029	P78357	CNTP1_HUMAN	I	1029	ENSP00000264638:S1029I	ENSP00000264638:S1029I	S	+	2	0	CNTNAP1	38101158	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	3.388000	0.52509	1.316000	0.45131	0.655000	0.94253	AGC		0.617	CNTNAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452342.1	NM_003632		5	55	1	0	1	1	1	5	55					T	40847632	G	T	40847632	3	4	229	1	0	0	0	0	1	0	0	0	3646	971	34	5	3160	5	CNTNAP1	17	40847632	Missense_Mutation	SNP	G	TCGA-HC-8256-01A-11D-2260-08	5913111	40847632	40347578	34	10660											
PRKCSH	5589	broad.mit.edu	37	chr19	11560110	11560110	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgtgcgggaaagagaccatGgtgaccagcaccacagagcc	12	4	13	12	1	0	3	0	1	0	2	0	5	0	4	4	2	3	1	4	2	1	0			TCGA-HC-8256-01A-11D-2260-08	TCGA-HC-8256-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e9272d1-8ef5-42c5-933e-c466a8f22479	f1e42f84-82bb-4e9a-9093-d8dc73dc6653	g.chr19:11560110G>A	ENST00000589838.1	+	16	1470	c.1470G>A	c.(1468-1470)atG>atA	p.M490I	PRKCSH_ENST00000587327.1_Missense_Mutation_p.M487I|PRKCSH_ENST00000252455.2_Missense_Mutation_p.M490I|PRKCSH_ENST00000591462.1_Missense_Mutation_p.M487I|PRKCSH_ENST00000412601.1_Missense_Mutation_p.M487I|PRKCSH_ENST00000592741.1_Missense_Mutation_p.M497I			P14314	GLU2B_HUMAN	protein kinase C substrate 80K-H	490					cellular protein metabolic process (GO:0044267)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|liver development (GO:0001889)|N-glycan processing (GO:0006491)|negative regulation of neuron projection development (GO:0010977)|nitrogen compound metabolic process (GO:0006807)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein heterooligomerization (GO:0051291)|protein N-linked glycosylation via asparagine (GO:0018279)|renal system development (GO:0072001)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|intracellular (GO:0005622)	calcium ion binding (GO:0005509)|ion channel binding (GO:0044325)|phosphoprotein binding (GO:0051219)|protein kinase C binding (GO:0005080)|RNA binding (GO:0003723)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|prostate(3)	19						AAGAGACCATGGTGACCAGCA	0.692																																						ENST00000252455.2																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|prostate(3)	19						c.(1468-1470)atG>atA		protein kinase C substrate 80K-H							60	55	57					19																	11560110		2203	4300	6503	SO:0001583	missense	5589				innate immune response|intracellular protein kinase cascade|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen	calcium ion binding|protein kinase C binding	g.chr19:11560110G>A		CCDS32911.1, CCDS45977.1, CCDS74286.1	19p13.2	2014-01-30			ENSG00000130175	ENSG00000130175	2.7.11.1	"EF-hand domain containing"	9411	protein-coding gene	gene with protein product		177060	"polycystic liver disease"	G19P1, PCLD, PLD1		12529853	Standard	NM_002743		Approved		uc002mrt.3	P14314	OTTHUMG00000182029	ENST00000589838.1:c.1470G>A	19.37:g.11560110G>A	ENSP00000465461:p.Met490Ile					PRKCSH_ENST00000592741.1_Missense_Mutation_p.M497I|PRKCSH_ENST00000589838.1_Missense_Mutation_p.M490I|PRKCSH_ENST00000591462.1_Missense_Mutation_p.M487I|PRKCSH_ENST00000587327.1_Missense_Mutation_p.M487I|PRKCSH_ENST00000412601.1_Missense_Mutation_p.M487I	p.M490I	NM_002743.2	NP_002734.2	P14314	GLU2B_HUMAN			17	1806	+			490					A8K318|Q96BU9|Q96D06|Q9P0W9	Missense_Mutation	SNP	ENST00000589838.1	37	c.1470G>A	CCDS32911.1	.	.	.	.	.	.	.	.	.	.	G	5.298	0.240384	0.10023	.	.	ENSG00000130175	ENST00000252455;ENST00000412601	D;D	0.82167	-1.58;-1.58	3.72	2.6	0.31112	Mannose-6-phosphate receptor, binding (1);	0.332477	0.28182	N	0.016285	T	0.66127	0.2758	N	0.12182	0.205	0.19945	N	0.999945	B;B;B;B	0.09022	0.002;0.002;0.0;0.001	B;B;B;B	0.08055	0.003;0.003;0.001;0.003	T	0.56456	-0.7976	10	0.35671	T	0.21	-13.6047	9.8819	0.41238	0.0:0.0:0.6528:0.3472	.	497;497;487;490	E7EQZ9;B4DJQ5;A8K318;P14314	.;.;.;GLU2B_HUMAN	I	490;487	ENSP00000252455:M490I;ENSP00000395616:M487I	ENSP00000252455:M490I	M	+	3	0	PRKCSH	11421110	0.719000	0.27986	0.851000	0.33527	0.320000	0.28249	0.689000	0.25437	1.895000	0.54865	0.563000	0.77884	ATG		0.692	PRKCSH-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000458817.1			5	66	0	0	0	1	0	5	66					A	11560110	G	A	11560110	3	1	229	1	0	0	0	0	1	0	0	0	12516	1348	47	3	1553	3	PRKCSH	19	11560110	Missense_Mutation	SNP	G	TCGA-HC-8256-01A-11D-2260-08		11560110	47568873	35	10661											
PGLYRP2	114770	broad.mit.edu	37	chr19	15582853	15582853	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agcggcagctgcagcagcttCgggcggccccgataaggcgc	7	4	16	14	5	0	0	0	0	0	0	1	1	0	0	2	4	5	5	2	4	1	2			TCGA-HC-8256-01A-11D-2260-08	TCGA-HC-8256-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e9272d1-8ef5-42c5-933e-c466a8f22479	f1e42f84-82bb-4e9a-9093-d8dc73dc6653	g.chr19:15582853C>T	ENST00000340880.4	-	3	1671	c.1191G>A	c.(1189-1191)ccG>ccA	p.P397P	PGLYRP2_ENST00000292609.4_Silent_p.P397P	NM_052890.3	NP_443122.3	Q96PD5	PGRP2_HUMAN	peptidoglycan recognition protein 2	397					defense response to Gram-positive bacterium (GO:0050830)|detection of bacterium (GO:0016045)|growth of symbiont in host (GO:0044117)|innate immune response (GO:0045087)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of natural killer cell differentiation involved in immune response (GO:0032827)|pattern recognition receptor signaling pathway (GO:0002221)|peptide amidation (GO:0001519)|peptidoglycan catabolic process (GO:0009253)|regulation of inflammatory response (GO:0050727)	extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)	N-acetylmuramoyl-L-alanine amidase activity (GO:0008745)|peptidoglycan binding (GO:0042834)|peptidoglycan receptor activity (GO:0016019)|zinc ion binding (GO:0008270)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(3)|prostate(2)|skin(3)|stomach(2)|urinary_tract(1)	28						GCAGCAGCTTCGGGCGGCCCC	0.662																																						ENST00000292609.4																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(3)|prostate(2)|skin(3)|stomach(2)|urinary_tract(1)	28						c.(1189-1191)ccG>ccA		peptidoglycan recognition protein 2							33	31	31					19																	15582853		2202	4300	6502	SO:0001819	synonymous_variant	114770				defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptide amidation|peptidoglycan catabolic process	extracellular region|intracellular|membrane	N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding	g.chr19:15582853C>T	AY358156	CCDS12330.2	19p13.12	2010-04-27			ENSG00000161031	ENSG00000161031	3.5.1.28		30013	protein-coding gene	gene with protein product	"peptidoglycan recognition protein L precursor", "peptidoglycan recognition protein-like", "N-acetylmuramoyl-L-alanine amidase"	608199				11461926, 12669421, 14506276	Standard	NM_052890		Approved	PGRP-L, PGLYRPL, TAGL-like, tagL, tagL-alpha, tagl-beta, PGRPL	uc002nbf.4	Q96PD5	OTTHUMG00000150690	ENST00000340880.4:c.1191G>A	19.37:g.15582853C>T						PGLYRP2_ENST00000340880.4_Silent_p.P397P	p.P397P			Q96PD5	PGRP2_HUMAN			3	1320	-			397					A8K050|A8K8C7|B2RMZ2|B7ZM33|Q68CK1|Q96N74|Q9UC60	Silent	SNP	ENST00000340880.4	37	c.1191G>A	CCDS12330.2																																																																																				0.662	PGLYRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319626.1	NM_052890		3	28	0	0	0	1	0	3	28					T	15582853	C	T	15582853	2	4	229	1	0	0	0	0	0	0	0	1	11794	871	31	2		2	PGLYRP2	19	15582853	Silent	SNP	C	TCGA-HC-8256-01A-11D-2260-08	4022743	15582853	43546130	36	10662											
FXYD3	5349	broad.mit.edu	37	chr19	35613746	35613746	+	Intron	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcatcatcatcgtcatgagtGagtggaggagctcgggggag	9	8	17	7	2	3	2	3	2	0	0	5	5	3	5	0	4	1	2	0	4	0	0			TCGA-HC-8256-01A-11D-2260-08	TCGA-HC-8256-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e9272d1-8ef5-42c5-933e-c466a8f22479	f1e42f84-82bb-4e9a-9093-d8dc73dc6653	g.chr19:35613746G>T	ENST00000344013.6	+	6	368				FXYD3_ENST00000605550.1_Intron|FXYD3_ENST00000535103.1_Intron|FXYD3_ENST00000604804.1_Intron|FXYD3_ENST00000603524.1_Intron|FXYD3_ENST00000435734.2_Nonsense_Mutation_p.E59*|FXYD3_ENST00000346446.5_Nonsense_Mutation_p.E59*|FXYD3_ENST00000604621.1_Intron|FXYD3_ENST00000605677.1_Nonsense_Mutation_p.E59*|FXYD3_ENST00000604255.1_Intron|FXYD3_ENST00000603181.1_Intron|LGI4_ENST00000493050.1_5'Flank|FXYD3_ENST00000604404.1_Intron|FXYD3_ENST00000406988.1_Intron|FXYD3_ENST00000406242.3_Nonsense_Mutation_p.E59*			Q14802	FXYD3_HUMAN	FXYD domain containing ion transport regulator 3						chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|regulation of catalytic activity (GO:0050790)|transmembrane transport (GO:0055085)	chloride channel complex (GO:0034707)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	chloride channel activity (GO:0005254)			endometrium(1)|lung(2)|prostate(1)	4	all_lung(56;5.38e-08)|Lung NSC(56;8.61e-08)|Esophageal squamous(110;0.162)		Epithelial(14;5.54e-20)|OV - Ovarian serous cystadenocarcinoma(14;1.33e-18)|all cancers(14;4.27e-17)|LUSC - Lung squamous cell carcinoma(66;0.0849)			CGTCATGAGTGAGTGGAGGAG	0.632																																						ENST00000435734.2																			0				endometrium(1)|lung(2)|prostate(1)	4						c.(175-177)Gag>Tag		FXYD domain containing ion transport regulator 3							69	74	72					19																	35613746		2203	4300	6503	SO:0001627	intron_variant	5349					chloride channel complex|integral to plasma membrane	chloride channel activity	g.chr19:35613746G>T	X93036	CCDS12442.1, CCDS12443.1, CCDS46048.1, CCDS46049.1, CCDS46050.1	19q13.11-q13.12	2008-05-14	2002-01-14			ENSG00000089356			4027	protein-coding gene	gene with protein product		604996	"FXYD domain-containing ion transport regulator 3"	PLML		7836447, 10950925	Standard	NM_005971		Approved	MAT-8	uc010xsm.2	Q14802		ENST00000344013.6:c.172+3G>T	19.37:g.35613746G>T						FXYD3_ENST00000605677.1_Nonsense_Mutation_p.E59*|FXYD3_ENST00000605550.1_Intron|FXYD3_ENST00000604804.1_Intron|FXYD3_ENST00000604621.1_Intron|FXYD3_ENST00000604404.1_Intron|FXYD3_ENST00000604255.1_Intron|FXYD3_ENST00000603524.1_Intron|FXYD3_ENST00000603181.1_Intron|FXYD3_ENST00000346446.5_Nonsense_Mutation_p.E59*|FXYD3_ENST00000406988.1_Intron|FXYD3_ENST00000535103.1_Intron|FXYD3_ENST00000406242.3_Nonsense_Mutation_p.E59*|FXYD3_ENST00000344013.6_Intron	p.E59*	NM_001136011.1|NM_021910.2	NP_001129483.1|NP_068710.1	Q14802	FXYD3_HUMAN	Epithelial(14;5.54e-20)|OV - Ovarian serous cystadenocarcinoma(14;1.33e-18)|all cancers(14;4.27e-17)|LUSC - Lung squamous cell carcinoma(66;0.0849)		7	434	+	all_lung(56;5.38e-08)|Lung NSC(56;8.61e-08)|Esophageal squamous(110;0.162)		58					A6NDE0|C9JDU2|F5H174|F8WB34|Q13211|Q6IB59	Nonsense_Mutation	SNP	ENST00000344013.6	37	c.175G>T	CCDS12442.1	.	.	.	.	.	.	.	.	.	.	G	13.36	2.213989	0.39102	.	.	ENSG00000089356	ENST00000406242;ENST00000346446	.	.	.	4.97	0.236	0.15471	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.8981	0.29719	0.3569:0.0:0.6431:0.0	.	.	.	.	X	59	.	.	E	+	1	0	FXYD3	40305586	1.000000	0.71417	0.968000	0.41197	0.040000	0.13550	0.333000	0.19768	0.153000	0.19213	-0.128000	0.14901	GAG		0.632	FXYD3-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000468985.1	NM_021910		4	135	1	0	0.014758	1	0.0158313	4	135					T	35613746	G	T	35613746	1	4	229	0	1	0	0	0	0	0	0	0	6119	1291	45	5		5	FXYD3	19	35613746	Intron	SNP	G	TCGA-HC-8256-01A-11D-2260-08	20030893	35613746	23515237	37	10663											
ZNF571	51276	broad.mit.edu	37	chr19	38057181	38057181	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ataactttttggtcacacaaCtggattccaagtctgtagaa	13	13	7	8	0	2	1	1	0	1	1	3	2	3	2	1	2	2	1	1	2	5	5			TCGA-HC-8256-01A-11D-2260-08	TCGA-HC-8256-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e9272d1-8ef5-42c5-933e-c466a8f22479	f1e42f84-82bb-4e9a-9093-d8dc73dc6653	g.chr19:38057181C>G	ENST00000328550.2	-	4	248	c.149G>C	c.(148-150)aGt>aCt	p.S50T	ZNF571-AS1_ENST00000591430.1_RNA|ZNF571-AS1_ENST00000587121.1_RNA|ZNF571-AS1_ENST00000589802.1_RNA|ZNF571_ENST00000358744.3_Missense_Mutation_p.S50T|ZNF571_ENST00000590751.1_Intron|ZNF571-AS1_ENST00000585578.1_RNA|ZNF571-AS1_ENST00000586139.1_RNA|ZNF571-AS1_ENST00000592392.1_RNA|ZNF571_ENST00000593133.1_Missense_Mutation_p.S50T|ZNF540_ENST00000592533.1_Intron|ZNF571-AS1_ENST00000590838.1_RNA|ZNF571-AS1_ENST00000589750.1_RNA|ZNF571-AS1_ENST00000586013.1_RNA|ZNF571_ENST00000451802.2_Missense_Mutation_p.S50T			Q7Z3V5	ZN571_HUMAN	zinc finger protein 571	50	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(3)|large_intestine(6)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	25			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			GGTCACACAACTGGATTCCAA	0.328																																						ENST00000328550.2																			0				breast(1)|endometrium(3)|large_intestine(6)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	25						c.(148-150)aGt>aCt		zinc finger protein 571							54	58	57					19																	38057181		2193	4290	6483	SO:0001583	missense	51276				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:38057181C>G	AF161544	CCDS12505.1	19q13.12	2013-09-20			ENSG00000180479	ENSG00000180479		"Zinc fingers, C2H2-type", "-"	25000	protein-coding gene	gene with protein product						11042152	Standard	XM_005258977		Approved	HSPC059	uc002ogt.3	Q7Z3V5	OTTHUMG00000182016	ENST00000328550.2:c.149G>C	19.37:g.38057181C>G	ENSP00000333660:p.Ser50Thr					ZNF571-AS1_ENST00000592392.1_RNA|ZNF571-AS1_ENST00000591430.1_RNA|ZNF571_ENST00000590751.1_Intron|ZNF571-AS1_ENST00000590838.1_RNA|ZNF571-AS1_ENST00000586013.1_RNA|ZNF571-AS1_ENST00000589750.1_RNA|ZNF571-AS1_ENST00000589802.1_RNA|ZNF571_ENST00000593133.1_Missense_Mutation_p.S50T|ZNF540_ENST00000592533.1_Intron|ZNF571-AS1_ENST00000586139.1_RNA|ZNF571-AS1_ENST00000587121.1_RNA|ZNF571_ENST00000451802.2_Missense_Mutation_p.S50T|ZNF571_ENST00000358744.3_Missense_Mutation_p.S50T|ZNF571-AS1_ENST00000585578.1_RNA	p.S50T			Q7Z3V5	ZN571_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		4	248	-			50			KRAB.		Q2HIY0|Q3ZCU3|Q9NZX7	Missense_Mutation	SNP	ENST00000328550.2	37	c.149G>C	CCDS12505.1	.	.	.	.	.	.	.	.	.	.	C	1.924	-0.447568	0.04572	.	.	ENSG00000180479	ENST00000328550;ENST00000451802;ENST00000358744	T;T;T	0.00824	5.65;5.65;5.65	3.45	-1.87	0.07737	Krueppel-associated box (3);	.	.	.	.	T	0.00637	0.0021	N	0.17474	0.49	0.09310	N	1	B	0.10296	0.003	B	0.06405	0.002	T	0.45991	-0.9223	9	0.32370	T	0.25	.	2.3498	0.04280	0.393:0.2711:0.0:0.3359	.	50	Q7Z3V5	ZN571_HUMAN	T	50	ENSP00000333660:S50T;ENSP00000392638:S50T;ENSP00000351594:S50T	ENSP00000333660:S50T	S	-	2	0	ZNF571	42749021	0.000000	0.05858	0.001000	0.08648	0.018000	0.09664	-3.759000	0.00373	-0.118000	0.11851	0.313000	0.20887	AGT		0.328	ZNF571-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458669.1	NM_016536		8	38	0	0	0	1	0	8	38					G	38057181	C	G	38057181	3	3	229	1	0	0	0	0	1	0	0	0	18000	565	20	5	1684	5	ZNF571	19	38057181	Missense_Mutation	SNP	C	TCGA-HC-8256-01A-11D-2260-08	2443435	38057181	21071802	38	10664											
PAK7	57144	broad.mit.edu	37	chr20	9546933	9546933	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctgcttgaggaatagcccgaTttgctttgactttgaggtag	8	14	12	7	1	0	3	0	3	0	0	0	5	0	4	1	2	3	3	1	2	3	6			TCGA-HC-8256-01A-11D-2260-08	TCGA-HC-8256-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e9272d1-8ef5-42c5-933e-c466a8f22479	f1e42f84-82bb-4e9a-9093-d8dc73dc6653	g.chr20:9546933T>C	ENST00000378429.3	-	6	1635	c.1089A>G	c.(1087-1089)aaA>aaG	p.K363K	PAK7_ENST00000378423.1_Silent_p.K363K|PAK7_ENST00000353224.5_Silent_p.K363K	NM_020341.3	NP_065074.1	Q9P286	PAK7_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 7	363	Linker.				apoptotic process (GO:0006915)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|learning (GO:0007612)|locomotory behavior (GO:0007626)|memory (GO:0007613)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|signal transduction (GO:0007165)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)	81			COAD - Colon adenocarcinoma(9;0.194)			AATAGCCCGATTTGCTTTGAC	0.557																																						ENST00000378429.3																			0				NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)	81						c.(1087-1089)aaA>aaG		p21 protein (Cdc42/Rac)-activated kinase 7							165	163	164					20																	9546933		2203	4300	6503	SO:0001819	synonymous_variant	57144						ATP binding|protein binding|protein serine/threonine kinase activity	g.chr20:9546933T>C	AB033090	CCDS13107.1	20p12	2008-06-17	2008-06-17		ENSG00000101349	ENSG00000101349			15916	protein-coding gene	gene with protein product		608038	"p21(CDKN1A)-activated kinase 7"			11756552, 10574462	Standard	NM_020341		Approved	KIAA1264, PAK5	uc002wnk.2	Q9P286	OTTHUMG00000031857	ENST00000378429.3:c.1089A>G	20.37:g.9546933T>C						PAK7_ENST00000353224.5_Silent_p.K363K|PAK7_ENST00000378423.1_Silent_p.K363K	p.K363K	NM_020341.3	NP_065074.1	Q9P286	PAK7_HUMAN	COAD - Colon adenocarcinoma(9;0.194)		6	1635	-			363			Linker.		A8K5T6|D3DW14|Q5W115|Q9BX09|Q9ULF6	Silent	SNP	ENST00000378429.3	37	c.1089A>G	CCDS13107.1																																																																																				0.557	PAK7-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077962.1			3	142	0	0	0	1	0	3	142					C	9546933	T	C	9546933	2	2	229	1	0	0	0	0	0	0	0	1	11405	1490	52	4		4	PAK7	20	9546933	Silent	SNP	T	TCGA-HC-8256-01A-11D-2260-08		9546933	53478587	39	10665											
CSRP2BP	57325	broad.mit.edu	37	chr20	18142699	18142699	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccagatgtgattctggaaaaAggcgaagtgattgacttttc	12	12	11	6	1	1	4	0	3	1	1	2	6	1	5	1	2	0	0	1	2	3	4			TCGA-HC-8256-01A-11D-2260-08	TCGA-HC-8256-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e9272d1-8ef5-42c5-933e-c466a8f22479	f1e42f84-82bb-4e9a-9093-d8dc73dc6653	g.chr20:18142699A>G	ENST00000435364.3	+	5	1259	c.918A>G	c.(916-918)aaA>aaG	p.K306K	CSRP2BP_ENST00000489634.2_Silent_p.K178K|CSRP2BP_ENST00000377681.3_Silent_p.K305K	NM_020536.4	NP_065397	Q9H8E8	CSR2B_HUMAN	CSRP2 binding protein	306					chromatin organization (GO:0006325)|G2/M transition of mitotic cell cycle (GO:0000086)|histone H3 acetylation (GO:0043966)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	histone acetyltransferase activity (GO:0004402)|LIM domain binding (GO:0030274)			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|stomach(1)	34						TTCTGGAAAAAGGCGAAGTGA	0.542																																						ENST00000278816.2																			0				NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|stomach(1)	34						c.(916-918)aaA>aaG		CSRP2 binding protein							124	140	135					20																	18142699		2203	4300	6503	SO:0001819	synonymous_variant	57325				histone H3 acetylation	Ada2/Gcn5/Ada3 transcription activator complex|cytoplasm	LIM domain binding|N-acetyltransferase activity	g.chr20:18142699A>G	AF252257	CCDS13133.1	20p11.23	2012-06-06			ENSG00000149474	ENSG00000149474			15904	protein-coding gene	gene with protein product	"cysteine rich protein 2 binding protein", "ATAC component 2 homolog (Drosophila)"					9286703, 10924333, 19103755	Standard	NR_028402		Approved	CRP2BP, dJ717M23.1, PRO1194, ATAC2, KAT14	uc021wbb.1	Q9H8E8	OTTHUMG00000031962	ENST00000435364.3:c.918A>G	20.37:g.18142699A>G						CSRP2BP_ENST00000489634.2_Silent_p.K178K|CSRP2BP_ENST00000377681.2_Silent_p.K305K|CSRP2BP_ENST00000435364.2_Silent_p.K306K	p.K306K			Q9H8E8	CSR2B_HUMAN			6	1568	+			306					A2A2I5|Q96GW6|Q96IH3|Q9HBF0|Q9UIY5	Silent	SNP	ENST00000435364.3	37	c.918A>G	CCDS13133.1																																																																																				0.542	CSRP2BP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078152.5	NM_020536		3	102	0	0	0	1	0	3	102					G	18142699	A	G	18142699	2	3	229	1	0	0	0	0	0	0	0	1	3968	69	3	4		4	CSRP2BP	20	18142699	Silent	SNP	A	TCGA-HC-8256-01A-11D-2260-08	8595766	18142699	44882821	40	10666											
KIAA0406	9675	broad.mit.edu	37	chr20	36639973	36639973	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aggaagcagctctcttatcgTaaaattggtccagggtggcc	10	10	12	9	1	1	0	0	0	1	0	4	1	2	1	2	4	2	3	2	4	4	3			TCGA-HC-8256-01A-11D-2260-08	TCGA-HC-8256-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e9272d1-8ef5-42c5-933e-c466a8f22479	f1e42f84-82bb-4e9a-9093-d8dc73dc6653	g.chr20:36639973T>C	ENST00000373448.2	-	3	2484	c.2246A>G	c.(2245-2247)tAc>tGc	p.Y749C	TTI1_ENST00000487362.1_5'Flank|TTI1_ENST00000373447.3_Missense_Mutation_p.Y749C|TTI1_ENST00000449821.1_Missense_Mutation_p.Y749C	NM_014657.1	NP_055472.1	O43156	TTI1_HUMAN	TELO2 interacting protein 1	749					regulation of TOR signaling (GO:0032006)	cytoplasm (GO:0005737)|TORC1 complex (GO:0031931)|TORC2 complex (GO:0031932)				breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	47						TCTCTTATCGTAAAATTGGTC	0.498																																						ENST00000373448.2																			0				breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	47						c.(2245-2247)tAc>tGc		TELO2 interacting protein 1							64	58	60					20																	36639973		2203	4300	6503	SO:0001583	missense	9675						binding	g.chr20:36639973T>C	BC013121	CCDS13300.1	20q11.23	2011-11-10	2011-11-10	2010-06-22	ENSG00000101407	ENSG00000101407			29029	protein-coding gene	gene with protein product	"smg-10 homolog, nonsense mediated mRNA decay factor (C. elegans)"	614425	"KIAA0406", "Tel2 interacting protein 1 homolog (S. pombe)"	KIAA0406		9455477, 20427287, 20371770	Standard	NM_014657		Approved	smg-10	uc002xhl.3	O43156	OTTHUMG00000032433	ENST00000373448.2:c.2246A>G	20.37:g.36639973T>C	ENSP00000362547:p.Tyr749Cys					TTI1_ENST00000449821.1_Missense_Mutation_p.Y749C|TTI1_ENST00000373447.3_Missense_Mutation_p.Y749C	p.Y749C	NM_014657.1	NP_055472.1	O43156	TTI1_HUMAN			3	2484	-			749					D6W4K3|Q5JX67|Q96A38|Q9BR47|Q9H4K0	Missense_Mutation	SNP	ENST00000373448.2	37	c.2246A>G	CCDS13300.1	.	.	.	.	.	.	.	.	.	.	T	15.43	2.831519	0.50845	.	.	ENSG00000101407	ENST00000373448;ENST00000373447;ENST00000449821	T;T;T	0.66460	-0.21;-0.21;-0.21	5.08	5.08	0.68730	Armadillo-like helical (1);Armadillo-type fold (1);	0.239554	0.44483	D	0.000451	T	0.76234	0.3959	M	0.67953	2.075	0.51767	D	0.999934	D	0.69078	0.997	P	0.58660	0.843	T	0.77882	-0.2422	10	0.49607	T	0.09	-6.2201	14.1773	0.65549	0.0:0.0:0.0:1.0	.	749	O43156	TTI1_HUMAN	C	749	ENSP00000362547:Y749C;ENSP00000362546:Y749C;ENSP00000407270:Y749C	ENSP00000362546:Y749C	Y	-	2	0	TTI1	36073387	1.000000	0.71417	0.991000	0.47740	0.995000	0.86356	6.843000	0.75384	2.123000	0.65237	0.528000	0.53228	TAC		0.498	TTI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079138.2	NM_014657		2	18	0	0	0	1	0	2	18					C	36639973	T	C	36639973	3	2	229	1	0	0	0	0	1	0	0	0	8173	1638	57	4	1051	4	KIAA0406	20	36639973	Missense_Mutation	SNP	T	TCGA-HC-8256-01A-11D-2260-08	18497274	36639973	26385547	41	10667											
HUNK	30811	broad.mit.edu	37	chr21	33318388	33318388	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcagggatcctgggttactcGgatccgttcagcacacagtg	8	9	13	11	2	1	0	1	0	0	0	4	2	3	2	2	3	2	4	2	3	1	2			TCGA-HC-8256-01A-11D-2260-08	TCGA-HC-8256-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e9272d1-8ef5-42c5-933e-c466a8f22479	f1e42f84-82bb-4e9a-9093-d8dc73dc6653	g.chr21:33318388G>A	ENST00000270112.2	+	4	1011	c.651G>A	c.(649-651)tcG>tcA	p.S217S		NM_014586.1	NP_055401.1	P57058	HUNK_HUMAN	hormonally up-regulated Neu-associated kinase	217	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				multicellular organismal development (GO:0007275)|signal transduction (GO:0007165)		ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|skin(2)|stomach(1)	30						TGGGTTACTCGGATCCGTTCA	0.522																																						ENST00000270112.2																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|skin(2)|stomach(1)	30						c.(649-651)tcG>tcA		hormonally up-regulated Neu-associated kinase							133	121	125					21																	33318388		2203	4300	6503	SO:0001819	synonymous_variant	30811				multicellular organismal development|signal transduction		ATP binding|protein serine/threonine kinase activity	g.chr21:33318388G>A	AJ271722	CCDS13610.1	21q22.1	2008-06-05	2008-06-05		ENSG00000142149	ENSG00000142149			13326	protein-coding gene	gene with protein product		606532	"hormonally upregulated Neu-associated kinase"			10662544, 10830953	Standard	NM_014586		Approved		uc002yph.3	P57058	OTTHUMG00000085019	ENST00000270112.2:c.651G>A	21.37:g.33318388G>A							p.S217S	NM_014586.1	NP_055401.1	P57058	HUNK_HUMAN			4	1011	+			217			Protein kinase.			Silent	SNP	ENST00000270112.2	37	c.651G>A	CCDS13610.1																																																																																				0.522	HUNK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000192782.1	NM_014586		14	85	0	0	0	1	0	14	85					A	33318388	G	A	33318388	2	1	229	1	0	0	0	0	0	0	0	1	7458	1103	39	2		2	HUNK	21	33318388	Silent	SNP	G	TCGA-HC-8256-01A-11D-2260-08		33318388	14811507	42	10668											
TMPRSS6	164656	broad.mit.edu	37	chr22	37499387	37499387	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aggccttgaacatcccctccGgctccgcttcctcgccatca	6	9	7	19	3	1	1	1	1	0	0	6	1	5	1	7	2	1	2	7	2	1	2			TCGA-HC-8256-01A-11D-2260-08	TCGA-HC-8256-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e9272d1-8ef5-42c5-933e-c466a8f22479	f1e42f84-82bb-4e9a-9093-d8dc73dc6653	g.chr22:37499387G>A	ENST00000346753.3	-	2	214	c.98C>T	c.(97-99)cCg>cTg	p.P33L	TMPRSS6_ENST00000381792.2_Missense_Mutation_p.P24L|TMPRSS6_ENST00000442782.2_Missense_Mutation_p.P33L|TMPRSS6_ENST00000406856.1_Missense_Mutation_p.P24L|TMPRSS6_ENST00000406725.1_Missense_Mutation_p.P24L	NM_153609.2	NP_705837.1	Q8IU80	TMPS6_HUMAN	transmembrane protease, serine 6	33					angiogenesis (GO:0001525)|extracellular matrix organization (GO:0030198)|fibrinolysis (GO:0042730)|intracellular signal transduction (GO:0035556)|iron ion homeostasis (GO:0055072)|proteolysis (GO:0006508)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)			breast(5)|central_nervous_system(4)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)	40						CATCCCCTCCGGCTCCGCTTC	0.662																																						ENST00000381792.2																			0				breast(5)|central_nervous_system(4)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)	40						c.(70-72)cCg>cTg		transmembrane protease, serine 6							88	94	92					22																	37499387		2203	4300	6503	SO:0001583	missense	164656				angiogenesis|extracellular matrix organization|fibrinolysis|intracellular signal transduction|proteolysis	integral to membrane|intracellular|plasma membrane	serine-type endopeptidase activity	g.chr22:37499387G>A	AY055383	CCDS13941.1, CCDS74856.1, CCDS74857.1	22q13.1	2010-04-13			ENSG00000187045	ENSG00000187045		"Serine peptidases / Transmembrane"	16517	protein-coding gene	gene with protein product		609862					Standard	NM_001289000		Approved	FLJ30744	uc003aqs.1	Q8IU80	OTTHUMG00000150541	ENST00000346753.3:c.98C>T	22.37:g.37499387G>A	ENSP00000334962:p.Pro33Leu					TMPRSS6_ENST00000442782.2_Missense_Mutation_p.P33L|TMPRSS6_ENST00000406725.1_Missense_Mutation_p.P24L|TMPRSS6_ENST00000406856.1_Missense_Mutation_p.P24L|TMPRSS6_ENST00000346753.3_Missense_Mutation_p.P33L	p.P24L			Q8IU80	TMPS6_HUMAN			2	211	-			33					B0QYB4|B0QYB7|B0QYB8|Q5TI06|Q6ICC2|Q6UXD8|Q8IUE2|Q8IXV8	Missense_Mutation	SNP	ENST00000346753.3	37	c.71C>T	CCDS13941.1	.	.	.	.	.	.	.	.	.	.	G	14.51	2.556853	0.45590	.	.	ENSG00000187045	ENST00000381792;ENST00000346753;ENST00000406725;ENST00000406856;ENST00000442782;ENST00000423761	D;D;D;D;T;D	0.91894	-2.92;-2.93;-2.92;-2.92;-1.01;-2.44	4.03	4.03	0.46877	.	0.338840	0.21513	N	0.073342	D	0.93138	0.7815	L	0.36672	1.1	0.44843	D	0.997856	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.998;0.995	D	0.93410	0.6768	10	0.87932	D	0	.	12.0441	0.53469	0.0:0.0:1.0:0.0	.	33;24;33	Q8IU80-2;Q8IU80-5;Q8IU80	.;.;TMPS6_HUMAN	L	24;33;24;24;33;24	ENSP00000371211:P24L;ENSP00000334962:P33L;ENSP00000385453:P24L;ENSP00000384964:P24L;ENSP00000397691:P33L;ENSP00000400317:P24L	ENSP00000334962:P33L	P	-	2	0	TMPRSS6	35829333	0.998000	0.40836	0.965000	0.40720	0.110000	0.19582	4.307000	0.59123	1.970000	0.57323	0.498000	0.49722	CCG		0.662	TMPRSS6-003	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000318822.1	NM_153609		3	113	0	0	0	1	0	3	113					A	37499387	G	A	37499387	3	1	229	1	0	0	0	0	1	0	0	0	16248	1116	39	2	2405	2	TMPRSS6	22	37499387	Missense_Mutation	SNP	G	TCGA-HC-8256-01A-11D-2260-08		37499387	13805179	43	10669											
CELSR1	9620	broad.mit.edu	37	chr22	46835238	46835238	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccgccgatgagcaggttcacGcaggtgcccccgttcttgca	6	8	12	15	4	2	1	1	1	1	0	2	2	2	1	4	2	3	5	4	2	0	3	rs370490684		TCGA-HC-8256-01A-11D-2260-08	TCGA-HC-8256-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e9272d1-8ef5-42c5-933e-c466a8f22479	f1e42f84-82bb-4e9a-9093-d8dc73dc6653	g.chr22:46835238G>A	ENST00000262738.3	-	3	4253	c.4254C>T	c.(4252-4254)tgC>tgT	p.C1418C		NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	1418	EGF-like 3; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				anterior/posterior pattern specification (GO:0009952)|apical protein localization (GO:0045176)|central nervous system development (GO:0007417)|establishment of body hair planar orientation (GO:0048105)|establishment of planar polarity (GO:0001736)|establishment of planar polarity of embryonic epithelium (GO:0042249)|G-protein coupled receptor signaling pathway (GO:0007186)|hair follicle development (GO:0001942)|homophilic cell adhesion (GO:0007156)|inner ear morphogenesis (GO:0042472)|lateral sprouting involved in lung morphogenesis (GO:0060490)|locomotory behavior (GO:0007626)|neural tube closure (GO:0001843)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|orthogonal dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060488)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|planar dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060489)|protein localization involved in establishment of planar polarity (GO:0090251)|regulation of actin cytoskeleton organization (GO:0032956)|Rho protein signal transduction (GO:0007266)|wound healing (GO:0042060)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)|protein dimerization activity (GO:0046983)|transmembrane signaling receptor activity (GO:0004888)			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		GCAGGTTCACGCAGGTGCCCC	0.652																																						ENST00000262738.3																			0				breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95						c.(4252-4254)tgC>tgT		cadherin, EGF LAG seven-pass G-type receptor 1		G		0,4406		0,0,2203	68	56	60		4254	0.5	1	22		60	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	CELSR1	NM_014246.1		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		1418/3015	46835238	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	9620				central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein dimerization activity	g.chr22:46835238G>A	AF231024	CCDS14076.1	22q13.31	2014-08-08	2013-02-18		ENSG00000075275	ENSG00000075275		"Cadherins / Major cadherins", "-", "GPCR / Class B : Orphans"	1850	protein-coding gene	gene with protein product	"flamingo homolog 2 (Drosophila)"	604523	"cadherin, EGF LAG seven-pass G-type receptor 1, flamingo (Drosophila) homolog"			9339365	Standard	XM_006724383		Approved	ME2, HFMI2, FMI2, CDHF9	uc003bhw.1	Q9NYQ6	OTTHUMG00000150423	ENST00000262738.3:c.4254C>T	22.37:g.46835238G>A							p.C1418C	NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)	3	4253	-		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)	1418			EGF-like 3; calcium-binding.		O95722|Q5TH47|Q9BWQ5|Q9Y506|Q9Y526	Silent	SNP	ENST00000262738.3	37	c.4254C>T	CCDS14076.1																																																																																				0.652	CELSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318037.1	NM_014246		10	62	0	0	0	1	0	10	62					A	46835238	G	A	46835238	2	1	229	1	0	0	0	0	0	0	0	1	3221	1079	38	1		1	CELSR1	22	46835238	Silent	SNP	G	TCGA-HC-8256-01A-11D-2260-08	9335851	46835238	4469328	44	10670											
POLA1	5422	broad.mit.edu	37	chrX	24861702	24861702	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcttgtatcgttgcagtaacAtcgattgtaaggcttcacct	9	14	9	9	2	1	0	1	0	0	0	3	1	1	0	1	1	2	7	1	1	3	7			TCGA-HC-8256-01A-11D-2260-08	TCGA-HC-8256-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e9272d1-8ef5-42c5-933e-c466a8f22479	f1e42f84-82bb-4e9a-9093-d8dc73dc6653	g.chrX:24861702A>G	ENST00000379059.3	+	34	3952	c.3937A>G	c.(3937-3939)Atc>Gtc	p.I1313V	POLA1_ENST00000379068.3_Missense_Mutation_p.I1319V	NM_016937.3	NP_058633.2	P09884	DPOLA_HUMAN	polymerase (DNA directed), alpha 1, catalytic subunit	1313	DNA-binding region. {ECO:0000255}.				cell proliferation (GO:0008283)|DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA replication, synthesis of RNA primer (GO:0006269)|DNA strand elongation involved in DNA replication (GO:0006271)|double-strand break repair via nonhomologous end joining (GO:0006303)|G1/S transition of mitotic cell cycle (GO:0000082)|lagging strand elongation (GO:0006273)|leading strand elongation (GO:0006272)|mitotic cell cycle (GO:0000278)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|translesion synthesis (GO:0019985)|viral process (GO:0016032)	alpha DNA polymerase:primase complex (GO:0005658)|cytoplasm (GO:0005737)|nuclear envelope (GO:0005635)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	3'-5' exonuclease activity (GO:0008408)|4 iron, 4 sulfur cluster binding (GO:0051539)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|nucleoside binding (GO:0001882)|nucleotide binding (GO:0000166)|protein kinase binding (GO:0019901)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|ovary(2)|skin(2)	11					Cladribine(DB00242)|Clofarabine(DB00631)|Fludarabine(DB01073)|Nelarabine(DB01280)	TTGCAGTAACATCGATTGTAA	0.373																																						ENST00000379068.3																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|ovary(2)|skin(2)	11						c.(3955-3957)Atc>Gtc		polymerase (DNA directed), alpha 1, catalytic subunit	Clofarabine(DB00631)|Fludarabine(DB01073)						156	116	130					X																	24861702		2203	4300	6503	SO:0001583	missense	5422				cell proliferation|DNA replication checkpoint|DNA replication, synthesis of RNA primer|DNA-dependent DNA replication initiation|double-strand break repair via nonhomologous end joining|interspecies interaction between organisms|lagging strand elongation|leading strand elongation|M/G1 transition of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	alpha DNA polymerase:primase complex|cytoplasm|nuclear envelope|nuclear matrix|nucleolus|nucleoplasm	chromatin binding|DNA-directed DNA polymerase activity|metal ion binding|nucleoside binding	g.chrX:24861702A>G		CCDS14214.1	Xp22.1-p21.3	2014-01-30	2008-08-07	2006-09-26	ENSG00000101868	ENSG00000101868	2.7.7.7	"DNA polymerases"	9173	protein-coding gene	gene with protein product		312040	"polymerase (DNA directed), alpha", "polymerase (DNA directed), alpha 1", "N syndrome (mental retardation, malformations, chromosome breakage)"	POLA, NSX		1689958	Standard	NM_016937		Approved	p180	uc004dbl.3	P09884	OTTHUMG00000021277	ENST00000379059.3:c.3937A>G	X.37:g.24861702A>G	ENSP00000368349:p.Ile1313Val					POLA1_ENST00000379059.3_Missense_Mutation_p.I1313V	p.I1319V			P09884	DPOLA_HUMAN			34	3998	+			1313					Q86UQ7	Missense_Mutation	SNP	ENST00000379059.3	37	c.3955A>G	CCDS14214.1	.	.	.	.	.	.	.	.	.	.	A	8.935	0.964359	0.18583	.	.	ENSG00000101868	ENST00000379068;ENST00000379059	T;T	0.16324	2.35;2.35	5.82	0.296	0.15757	Zinc finger, DNA-directed DNA polymerase, family B, alpha (1);	0.643608	0.16265	N	0.222052	T	0.04907	0.0132	N	0.02539	-0.55	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.42172	-0.9467	10	0.13470	T	0.59	-2.1954	5.203	0.15275	0.5332:0.2453:0.2215:0.0	.	1313	P09884	DPOLA_HUMAN	V	1319;1313	ENSP00000368358:I1319V;ENSP00000368349:I1313V	ENSP00000368349:I1313V	I	+	1	0	POLA1	24771623	0.180000	0.23148	0.751000	0.31187	0.928000	0.56348	0.838000	0.27572	0.002000	0.14630	-0.368000	0.07277	ATC		0.373	POLA1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000056111.1	NM_016937		13	16	0	0	0	1	0	13	16					G	24861702	A	G	24861702	3	3	229	1	0	0	0	0	1	0	0	0	12187	217	8	4	4071	4	POLA1	23	24861702	Missense_Mutation	SNP	A	TCGA-HC-8256-01A-11D-2260-08		24861702	130408858	45	10671											
SMARCA1	6594	broad.mit.edu	37	chrX	128638774	128638774	+	Frame_Shift_Del	DEL	A	A	-																															ttagtgtcaaaccaagaatcAaagtcctgtagaggggtgga																										TCGA-HC-8256-01A-11D-2260-08	TCGA-HC-8256-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e9272d1-8ef5-42c5-933e-c466a8f22479	f1e42f84-82bb-4e9a-9093-d8dc73dc6653	g.chrX:128638774delA	ENST00000371122.4	-	9	1233	c.1104delT	c.(1102-1104)tttfs	p.F368fs	SMARCA1_ENST00000371121.3_Frame_Shift_Del_p.F368fs|SMARCA1_ENST00000371123.1_Frame_Shift_Del_p.F368fs	NM_003069.3	NP_003060.2	P28370	SMCA1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1	368					ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|brain development (GO:0007420)|chromatin remodeling (GO:0006338)|DNA strand renaturation (GO:0000733)|neuron differentiation (GO:0030182)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of neural precursor cell proliferation (GO:2000177)|transcription, DNA-templated (GO:0006351)	CERF complex (GO:0090537)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|NURF complex (GO:0016589)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(13)|ovary(5)|prostate(1)|skin(1)	45						ACCAAGAATCAAAGTCCTGTA	0.343																																						ENST00000371122.4																			0				biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(13)|ovary(5)|prostate(1)|skin(1)	45						c.(1102-1104)ttfs		SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1							124	118	120					X																	128638774		2203	4300	6503	SO:0001589	frameshift_variant	6594				ATP-dependent chromatin remodeling|brain development|neuron differentiation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	NURF complex	ATP binding|DNA binding|helicase activity|nucleosome binding|protein binding	g.chrX:128638774delA	M88163	CCDS14612.1, CCDS76018.1, CCDS76019.1	Xq25	2008-02-05			ENSG00000102038	ENSG00000102038			11097	protein-coding gene	gene with protein product		300012		SNF2L1, SNF2L		1408766, 14609955	Standard	XM_005262461		Approved	SNF2LB, NURF140, ISWI, SWI	uc004eun.4	P28370	OTTHUMG00000022370	ENST00000371122.4:c.1104delT	X.37:g.128638774delA	ENSP00000360163:p.Phe368fs					SMARCA1_ENST00000371123.1_Frame_Shift_Del_p.F368fs|SMARCA1_ENST00000371121.3_Frame_Shift_Del_p.F368fs	p.F368fs	NM_003069.3	NP_003060.2	P28370	SMCA1_HUMAN			9	1233	-			368					Q5JV41|Q5JV42	Frame_Shift_Del	DEL	ENST00000371122.4	37	c.1104delT	CCDS14612.1																																																																																				0.343	SMARCA1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058206.1	NM_003069		44	46						44	46	---	---	---	---	-	128638774	A	-	128638774	7	5	229	1	0	1	0	1	0	0	0	0	14768	127	5	0	2124	0	SMARCA1	23	128638774	Frame_Shift_Del	DEL	A	TCGA-HC-8256-01A-11D-2260-08	103777072	128638774	26631786	46	10672											
SLITRK2	84631	broad.mit.edu	37	chrX	144906446	144906446	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagaaccggactacctcgaaGttctggaaaaacaaactgca	16	6	8	11	2	1	1	0	0	1	1	2	4	1	3	2	2	5	2	2	2	6	2			TCGA-HC-8256-01A-11D-2260-08	TCGA-HC-8256-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e9272d1-8ef5-42c5-933e-c466a8f22479	f1e42f84-82bb-4e9a-9093-d8dc73dc6653	g.chrX:144906446G>T	ENST00000370490.1	+	1	6758	c.2503G>T	c.(2503-2505)Gtt>Ttt	p.V835F	SLITRK2_ENST00000447897.2_Missense_Mutation_p.V835F|SLITRK2_ENST00000413937.2_Missense_Mutation_p.V835F|TMEM257_ENST00000408967.2_5'Flank|SLITRK2_ENST00000434188.2_Missense_Mutation_p.V835F|SLITRK2_ENST00000428560.2_Missense_Mutation_p.V835F			Q9H156	SLIK2_HUMAN	SLIT and NTRK-like family, member 2	835					axonogenesis (GO:0007409)	integral component of membrane (GO:0016021)				NS(1)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(17)|lung(40)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	86	Acute lymphoblastic leukemia(192;6.56e-05)					CTACCTCGAAGTTCTGGAAAA	0.468																																						ENST00000370490.1																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(17)|lung(40)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	86						c.(2503-2505)Gtt>Ttt		SLIT and NTRK-like family, member 2							61	56	58					X																	144906446		2203	4300	6503	SO:0001583	missense	84631					integral to membrane		g.chrX:144906446G>T	Y19205	CCDS14680.1	Xq27.3	2008-02-05	2004-03-11		ENSG00000185985	ENSG00000185985			13449	protein-coding gene	gene with protein product		300561	"slit-like 1 (Drosophila)"	SLITL1		11347906, 14557068	Standard	NM_032539		Approved	KIAA1854, CXorf2	uc011mwr.2	Q9H156	OTTHUMG00000022595	ENST00000370490.1:c.2503G>T	X.37:g.144906446G>T	ENSP00000359521:p.Val835Phe					SLITRK2_ENST00000447897.2_Missense_Mutation_p.V835F|SLITRK2_ENST00000413937.2_Missense_Mutation_p.V835F|SLITRK2_ENST00000434188.2_Missense_Mutation_p.V835F|SLITRK2_ENST00000428560.2_Missense_Mutation_p.V835F	p.V835F			Q9H156	SLIK2_HUMAN			1	6758	+	Acute lymphoblastic leukemia(192;6.56e-05)		835					A8K117|Q2KHN3|Q5JXB1|Q8NBC7|Q96JH3	Missense_Mutation	SNP	ENST00000370490.1	37	c.2503G>T	CCDS14680.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.964786	0.74131	.	.	ENSG00000185985	ENST00000447897;ENST00000370490;ENST00000434188;ENST00000413937;ENST00000428560	T;T;T;T;T	0.69040	-0.37;-0.37;-0.37;-0.37;-0.37	5.38	5.38	0.77491	.	0.069614	0.56097	D	0.000029	T	0.77831	0.4189	M	0.65498	2.005	0.54753	D	0.999984	D	0.62365	0.991	P	0.59595	0.86	T	0.80739	-0.1248	10	0.87932	D	0	-7.0323	15.4932	0.75629	0.0:0.0:1.0:0.0	.	835	Q9H156	SLIK2_HUMAN	F	835	ENSP00000411681:V835F;ENSP00000359521:V835F;ENSP00000397015:V835F;ENSP00000407347:V835F;ENSP00000412010:V835F	ENSP00000359521:V835F	V	+	1	0	SLITRK2	144714138	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.922000	0.87538	2.251000	0.74343	0.600000	0.82982	GTT		0.468	SLITRK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058633.1	NM_032539		21	14	1	0	0.000375601	1	0.000418122	21	14					T	144906446	G	T	144906446	3	4	229	1	0	0	0	0	1	0	0	0	14743	1029	36	5	2505	5	SLITRK2	23	144906446	Missense_Mutation	SNP	G	TCGA-HC-8256-01A-11D-2260-08	16267672	144906446	10364114	47	10673											
EXTL1	2134	broad.mit.edu	37	chr1	26349783	26349783	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtggggctcctggccagctgCggcaacacagcccccagccc	6	4	13	18	1	0	0	0	0	0	0	1	0	1	0	5	4	5	3	5	4	1	0			TCGA-HC-8257-01A-11D-2260-08	TCGA-HC-8257-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7373089-17c1-4809-b236-dec22225a3f0	1b6bdf28-2065-413f-b851-d6834173d5f0	g.chr1:26349783C>T	ENST00000374280.3	+	1	1513	c.646C>T	c.(646-648)Cgg>Tgg	p.R216W	EXTL1_ENST00000484339.1_3'UTR	NM_004455.2	NP_004446.2	Q92935	EXTL1_HUMAN	exostosin-like glycosyltransferase 1	216					protein glycosylation (GO:0006486)|skeletal system development (GO:0001501)	integral component of membrane (GO:0016021)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity (GO:0050508)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|stomach(1)|urinary_tract(1)	23		Colorectal(325;3.46e-05)|Lung NSC(340;6.18e-05)|all_lung(284;9.43e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;6.44e-26)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|BRCA - Breast invasive adenocarcinoma(304;0.000954)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00594)|READ - Rectum adenocarcinoma(331;0.0649)		TGGCCAGCTGCGGCAACACAG	0.697																																						ENST00000374280.3																			0				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|stomach(1)|urinary_tract(1)	23						c.(646-648)Cgg>Tgg		exostosin-like glycosyltransferase 1							12	13	13					1																	26349783		2197	4296	6493	SO:0001583	missense	2134				skeletal system development	integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|protein binding	g.chr1:26349783C>T	U67191	CCDS271.1	1p36.1	2013-03-01	2013-03-01		ENSG00000158008	ENSG00000158008	2.4.1.224	"Exostosin glycosyltransferase family"	3515	protein-coding gene	gene with protein product	"glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N- acetylglucosaminyltransferase", "alpha-N-acetylglucosaminyltransferase II", "glucuronyl-N-acetylglucosaminylproteoglycan alpha-1,4-N- acetylglucosaminyltransferase", "exostosin-L"	601738	"exostoses (multiple)-like 1"			9037597	Standard	NM_004455		Approved	EXTL, MGC70794	uc001blf.3	Q92935	OTTHUMG00000007509	ENST00000374280.3:c.646C>T	1.37:g.26349783C>T	ENSP00000363398:p.Arg216Trp					EXTL1_ENST00000484339.1_3'UTR	p.R216W	NM_004455.2	NP_004446.2	Q92935	EXTL1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;6.44e-26)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|BRCA - Breast invasive adenocarcinoma(304;0.000954)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00594)|READ - Rectum adenocarcinoma(331;0.0649)	1	1513	+		Colorectal(325;3.46e-05)|Lung NSC(340;6.18e-05)|all_lung(284;9.43e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)	216					Q6GSC1	Missense_Mutation	SNP	ENST00000374280.3	37	c.646C>T	CCDS271.1	.	.	.	.	.	.	.	.	.	.	C	18.83	3.706422	0.68615	.	.	ENSG00000158008	ENST00000374280	D	0.97598	-4.45	5.38	4.44	0.53790	.	0.770595	0.11987	N	0.510213	D	0.97126	0.9061	L	0.46157	1.445	0.25303	N	0.989269	D	0.76494	0.999	P	0.61658	0.892	D	0.91986	0.5599	10	0.72032	D	0.01	-7.3382	12.0374	0.53433	0.1258:0.7383:0.1359:0.0	.	216	Q92935	EXTL1_HUMAN	W	216	ENSP00000363398:R216W	ENSP00000363398:R216W	R	+	1	2	EXTL1	26222370	0.000000	0.05858	0.984000	0.44739	0.989000	0.77384	-0.454000	0.06770	2.802000	0.96397	0.655000	0.94253	CGG		0.697	EXTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019749.1	NM_004455		4	20	0	0	0	1	0	4	20					T	26349783	C	T	26349783	3	4	230	1	0	0	0	0	1	0	0	0	5325	759	27	1	648	1	EXTL1	1	26349783	Missense_Mutation	SNP	C	TCGA-HC-8257-01A-11D-2260-08		26349783	222900838	1	10674											
PDZK1IP1	10158	broad.mit.edu	37	chr1	47650744	47650744	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccatctgccttgtttccgaCggtcaggatcatgtgtgcag	6	13	11	11	2	3	0	2	0	1	0	5	2	5	1	3	2	2	2	3	2	0	2	rs35912227	byFrequency	TCGA-HC-8257-01A-11D-2260-08	TCGA-HC-8257-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7373089-17c1-4809-b236-dec22225a3f0	1b6bdf28-2065-413f-b851-d6834173d5f0	g.chr1:47650744C>T	ENST00000294338.2	-	3	324	c.202G>A	c.(202-204)Gtc>Atc	p.V68I	PDZK1IP1_ENST00000491793.1_5'UTR|PDZK1IP1_ENST00000371885.1_Missense_Mutation_p.V68I	NM_005764.3	NP_005755.1	Q13113	PDZ1I_HUMAN	PDZK1 interacting protein 1	68						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				endometrium(1)|lung(1)|prostate(1)	3						TTGTTTCCGACGGTCAGGATC	0.617													C|||	9	0.00179712	0	0.0029	5008	,	,		18987	0		0.004	False		,,,				2504	0.0031					ENST00000294338.2																			0				endometrium(1)|lung(1)|prostate(1)	3						c.(202-204)Gtc>Atc		PDZK1 interacting protein 1		C	ILE/VAL	3,4403	6.2+/-15.9	0,3,2200	173	134	147		202	-5.9	0	1	dbSNP_126	147	14,8586	11.2+/-40.8	0,14,4286	yes	missense	PDZK1IP1	NM_005764.3	29	0,17,6486	TT,TC,CC		0.1628,0.0681,0.1307	benign	68/115	47650744	17,12989	2203	4300	6503	SO:0001583	missense	10158					integral to membrane		g.chr1:47650744C>T	U21049	CCDS546.1	1p33	2008-02-05			ENSG00000162366	ENSG00000162366			16887	protein-coding gene	gene with protein product		607178				9815914, 8701988, 12754212, 12837682	Standard	NM_005764		Approved	DD96, MAP17, SPAP	uc001cqw.3	Q13113	OTTHUMG00000007852	ENST00000294338.2:c.202G>A	1.37:g.47650744C>T	ENSP00000294338:p.Val68Ile					PDZK1IP1_ENST00000491793.1_5'UTR|PDZK1IP1_ENST00000371885.1_Missense_Mutation_p.V68I	p.V68I	NM_005764.3	NP_005755.1	Q13113	PDZ1I_HUMAN			3	324	-			68					Q6ICT9|Q96EI1	Missense_Mutation	SNP	ENST00000294338.2	37	c.202G>A	CCDS546.1	4	0.0018315018315018315	0	0.0	0	0.0	0	0.0	4	0.005277044854881266	C	0.370	-0.934356	0.02340	6.81E-4	0.001628	ENSG00000162366	ENST00000294338;ENST00000371885	.	.	.	3.51	-5.89	0.02282	.	1.705140	0.04032	N	0.301548	T	0.07188	0.0182	N	0.01576	-0.805	0.09310	N	1	B	0.10296	0.003	B	0.04013	0.001	T	0.31251	-0.9950	9	0.02654	T	1	0.0265	6.9494	0.24536	0.0:0.19:0.1465:0.6635	rs35912227	68	Q13113	PDZ1I_HUMAN	I	68	.	ENSP00000294338:V68I	V	-	1	0	PDZK1IP1	47423331	0.000000	0.05858	0.000000	0.03702	0.085000	0.17905	-2.105000	0.01339	-1.268000	0.02439	-0.369000	0.07265	GTC		0.617	PDZK1IP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021655.1	NM_005764		3	89	0	0	0	1	0	3	89					T	47650744	C	T	47650744	3	4	230	1	0	0	0	0	1	0	0	0	11708	536	19	1	150	1	PDZK1IP1	1	47650744	Missense_Mutation	SNP	C	TCGA-HC-8257-01A-11D-2260-08	21300961	47650744	201599877	2	10675											
FAM72B	653820	broad.mit.edu	37	chr1	120846050	120846050	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtagttcctgtcttccttccTgcaacaacggacacttctgg	7	13	8	13	1	2	0	0	0	2	0	5	1	5	1	3	2	3	3	3	2	3	5			TCGA-HC-8257-01A-11D-2260-08	TCGA-HC-8257-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7373089-17c1-4809-b236-dec22225a3f0	1b6bdf28-2065-413f-b851-d6834173d5f0	g.chr1:120846050T>A	ENST00000369390.3	+	3	1115	c.286T>A	c.(286-288)Tgc>Agc	p.C96S	FAM72B_ENST00000355228.4_Missense_Mutation_p.C56S|FAM72B_ENST00000471903.2_3'UTR	NM_001100910.1	NP_001094380.1	Q86X60	FA72B_HUMAN	family with sequence similarity 72, member B	96										large_intestine(1)|lung(2)	3	all_neural(166;0.181)	all_lung(203;7.27e-05)|Lung NSC(69;0.000389)|all_epithelial(167;0.068)		Lung(183;0.0327)|LUSC - Lung squamous cell carcinoma(189;0.19)		TCTTCCTTCCTGCAACAACGG	0.388																																						ENST00000369390.3																			0				large_intestine(1)|lung(2)	3						c.(286-288)Tgc>Agc		family with sequence similarity 72, member B							407	369	380					1																	120846050		1878	4116	5994	SO:0001583	missense	653820							g.chr1:120846050T>A	AL357493	CCDS72848.1	1p12	2014-05-06			ENSG00000188610	ENSG00000188610			24805	protein-coding gene	gene with protein product		614711					Standard	NM_001100910		Approved	RP11-439A17.6	uc009whp.3	Q86X60	OTTHUMG00000185025	ENST00000369390.3:c.286T>A	1.37:g.120846050T>A	ENSP00000358397:p.Cys96Ser					FAM72B_ENST00000471903.2_3'UTR|FAM72B_ENST00000355228.4_Missense_Mutation_p.C56S	p.C96S	NM_001100910.1	NP_001094380.1	Q86X60	FA72B_HUMAN		Lung(183;0.0327)|LUSC - Lung squamous cell carcinoma(189;0.19)	3	1115	+	all_neural(166;0.181)	all_lung(203;7.27e-05)|Lung NSC(69;0.000389)|all_epithelial(167;0.068)	96					B2RPQ5|Q5QP15	Missense_Mutation	SNP	ENST00000369390.3	37	c.286T>A	CCDS41374.1	.	.	.	.	.	.	.	.	.	.	T	14.45	2.537846	0.45176	.	.	ENSG00000188610	ENST00000369392;ENST00000369390;ENST00000452190;ENST00000355228	T;T;T	0.52526	0.66;0.66;0.66	2.54	2.54	0.30619	.	0.000000	0.85682	U	0.000000	T	0.56746	0.2006	M	0.80183	2.485	0.52099	D	0.999949	D;B	0.76494	0.999;0.208	D;B	0.83275	0.996;0.04	T	0.61282	-0.7094	10	0.62326	D	0.03	.	8.5796	0.33621	0.0:0.0:0.0:1.0	.	96;56	Q86X60;Q86X60-2	FA72B_HUMAN;.	S	67;96;67;56	ENSP00000358397:C96S;ENSP00000392882:C67S;ENSP00000347368:C56S	ENSP00000347368:C56S	C	+	1	0	FAM72B	120647573	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	5.554000	0.67294	1.173000	0.42796	0.327000	0.21459	TGC		0.388	FAM72B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098437.1			4	328	0	0	0	1	0	4	328					A	120846050	T	A	120846050	3	1	230	1	0	0	0	0	1	0	0	0	5615	1580	55	5	296	5	FAM72B	1	120846050	Missense_Mutation	SNP	T	TCGA-HC-8257-01A-11D-2260-08	73195306	120846050	128404571	3	10676											
CHRNB2	1141	broad.mit.edu	37	chr1	154542011	154542011	+	Frame_Shift_Del	DEL	C	C	-																															tcccgctacaacaagcttatCcgcccagccaccaatggctc																										TCGA-HC-8257-01A-11D-2260-08	TCGA-HC-8257-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7373089-17c1-4809-b236-dec22225a3f0	1b6bdf28-2065-413f-b851-d6834173d5f0	g.chr1:154542011delC	ENST00000368476.3	+	2	402	c.138delC	c.(136-138)atcfs	p.I46fs		NM_000748.2	NP_000739.1	P17787	ACHB2_HUMAN	cholinergic receptor, nicotinic, beta 2 (neuronal)	46					action potential (GO:0001508)|associative learning (GO:0008306)|B cell activation (GO:0042113)|behavioral response to nicotine (GO:0035095)|calcium ion transport (GO:0006816)|cation transmembrane transport (GO:0098655)|central nervous system projection neuron axonogenesis (GO:0021952)|cognition (GO:0050890)|conditioned taste aversion (GO:0001661)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|lateral geniculate nucleus development (GO:0021771)|learning (GO:0007612)|locomotory behavior (GO:0007626)|membrane depolarization (GO:0051899)|memory (GO:0007613)|negative regulation of action potential (GO:0045759)|neurological system process (GO:0050877)|optic nerve morphogenesis (GO:0021631)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of dopamine secretion (GO:0033603)|positive regulation of synaptic transmission, dopaminergic (GO:0032226)|protein heterooligomerization (GO:0051291)|regulation of circadian sleep/wake cycle, non-REM sleep (GO:0045188)|regulation of circadian sleep/wake cycle, REM sleep (GO:0042320)|regulation of dendrite morphogenesis (GO:0048814)|regulation of dopamine metabolic process (GO:0042053)|regulation of dopamine secretion (GO:0014059)|regulation of synapse assembly (GO:0051963)|regulation of synaptic transmission, dopaminergic (GO:0032225)|response to cocaine (GO:0042220)|response to ethanol (GO:0045471)|response to hypoxia (GO:0001666)|response to nicotine (GO:0035094)|sensory perception of pain (GO:0019233)|sensory perception of sound (GO:0007605)|signal transduction (GO:0007165)|smooth muscle contraction (GO:0006939)|social behavior (GO:0035176)|synaptic transmission (GO:0007268)|synaptic transmission involved in micturition (GO:0060084)|synaptic transmission, cholinergic (GO:0007271)|vestibulocochlear nerve development (GO:0021562)|visual learning (GO:0008542)|visual perception (GO:0007601)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|drug binding (GO:0008144)|ligand-gated ion channel activity (GO:0015276)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|skin(1)|urinary_tract(3)	28	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		LUSC - Lung squamous cell carcinoma(543;0.185)		Dextromethorphan(DB00514)|Galantamine(DB00674)|Nicotine(DB00184)	ACAAGCTTATCCGCCCAGCCA	0.597																																						ENST00000368476.3																			0				cervix(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|skin(1)|urinary_tract(3)	28						c.(136-138)atfs		cholinergic receptor, nicotinic, beta 2 (neuronal)	Nicotine(DB00184)						63	56	58					1																	154542011		2203	4300	6503	SO:0001589	frameshift_variant	1141				B cell activation|behavioral response to nicotine|calcium ion transport|central nervous system projection neuron axonogenesis|lateral geniculate nucleus development|locomotory behavior|membrane depolarization|memory|negative regulation of action potential|optic nerve morphogenesis|positive regulation of B cell proliferation|positive regulation of dopamine secretion|regulation of circadian sleep/wake cycle, REM sleep|regulation of dendrite morphogenesis|regulation of dopamine metabolic process|regulation of synaptogenesis|response to cocaine|response to ethanol|response to hypoxia|sensory perception of pain|sensory perception of sound|smooth muscle contraction|social behavior|synaptic transmission involved in micturition|synaptic transmission, cholinergic|vestibulocochlear nerve development|visual learning|visual perception	cell junction|external side of plasma membrane|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity	g.chr1:154542011delC	U62437	CCDS1070.1	1q21.3	2012-02-11	2006-02-01		ENSG00000160716	ENSG00000160716		"Cholinergic receptors", "Ligand-gated ion channels / Acetylcholine receptors, nicotinic"	1962	protein-coding gene	gene with protein product	"acetylcholine receptor, nicotinic, beta 2 (neuronal)"	118507	"cholinergic receptor, nicotinic, beta polypeptide 2 (neuronal)"			1505988	Standard	NM_000748		Approved		uc001ffg.3	P17787	OTTHUMG00000037262	ENST00000368476.3:c.138delC	1.37:g.154542011delC	ENSP00000357461:p.Ile46fs						p.I46fs	NM_000748.2	NP_000739.1	P17787	ACHB2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.185)		2	402	+	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		46					Q9UEH9	Frame_Shift_Del	DEL	ENST00000368476.3	37	c.138delC	CCDS1070.1																																																																																				0.597	CHRNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090697.1	NM_000748		17	34						17	34	---	---	---	---	-	154542011	C	-	154542011	7	5	230	1	0	1	0	1	0	0	0	0	3391	845	30	0	144	0	CHRNB2	1	154542011	Frame_Shift_Del	DEL	C	TCGA-HC-8257-01A-11D-2260-08	33695961	154542011	94708610	4	10677											
IFI16	3428	broad.mit.edu	37	chr1	158988436	158988436	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tatatggggtatttatgctaCataaggtaagtcctcaaaat	14	14	8	5	0	1	0	1	0	0	0	2	0	2	0	1	3	2	3	1	3	9	8			TCGA-HC-8257-01A-11D-2260-08	TCGA-HC-8257-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7373089-17c1-4809-b236-dec22225a3f0	1b6bdf28-2065-413f-b851-d6834173d5f0	g.chr1:158988436C>T	ENST00000295809.7	+	5	1222	c.967C>T	c.(967-969)Cat>Tat	p.H323Y	IFI16_ENST00000368131.4_Missense_Mutation_p.H323Y|IFI16_ENST00000448393.2_Missense_Mutation_p.H323Y|IFI16_ENST00000340979.6_Missense_Mutation_p.H323Y|IFI16_ENST00000359709.3_Missense_Mutation_p.H267Y|IFI16_ENST00000368132.3_Missense_Mutation_p.H323Y|IFI16_ENST00000430894.2_Missense_Mutation_p.H271Y			Q16666	IF16_HUMAN	interferon, gamma-inducible protein 16	323	HIN-200 1. {ECO:0000255|PROSITE- ProRule:PRU00106}.|Interaction with TP53 C-terminus.				activation of cysteine-type endopeptidase activity (GO:0097202)|activation of innate immune response (GO:0002218)|autophagy (GO:0006914)|cell proliferation (GO:0008283)|cellular response to glucose starvation (GO:0042149)|cellular response to ionizing radiation (GO:0071479)|defense response to virus (GO:0051607)|hemopoiesis (GO:0030097)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|monocyte differentiation (GO:0030224)|myeloid cell differentiation (GO:0030099)|negative regulation of cysteine-type endopeptidase activity (GO:2000117)|negative regulation of DNA binding (GO:0043392)|negative regulation of innate immune response (GO:0045824)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of viral genome replication (GO:0045071)|positive regulation of cytokine production (GO:0001819)|positive regulation of interleukin-1 beta production (GO:0032731)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of autophagy (GO:0010506)|regulation of gene expression, epigenetic (GO:0040029)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	core promoter binding (GO:0001047)|double-stranded DNA binding (GO:0003690)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|transcription factor binding (GO:0008134)			cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_hematologic(112;0.0429)					ATTTATGCTACATAAGGTAAG	0.338																																						ENST00000295809.7																			0				cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(967-969)Cat>Tat		interferon, gamma-inducible protein 16							72	80	77					1																	158988436		2203	4299	6502	SO:0001583	missense	3428				cell proliferation|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|monocyte differentiation|negative regulation of transcription, DNA-dependent|response to virus|transcription, DNA-dependent	cytoplasm|nuclear speck|nucleolus	double-stranded DNA binding|protein binding	g.chr1:158988436C>T	M63838	CCDS1180.3, CCDS58039.1	1q22	2008-02-05			ENSG00000163565	ENSG00000163565			5395	protein-coding gene	gene with protein product		147586				1526658, 7959953	Standard	NM_005531		Approved	IFNGIP1, PYHIN2	uc010pis.2	Q16666	OTTHUMG00000037108	ENST00000295809.7:c.967C>T	1.37:g.158988436C>T	ENSP00000295809:p.His323Tyr					IFI16_ENST00000340979.6_Missense_Mutation_p.H323Y|IFI16_ENST00000359709.3_Missense_Mutation_p.H267Y|IFI16_ENST00000368131.4_Missense_Mutation_p.H323Y|IFI16_ENST00000368132.3_Missense_Mutation_p.H323Y|IFI16_ENST00000430894.2_Missense_Mutation_p.H271Y|IFI16_ENST00000448393.2_Missense_Mutation_p.H323Y	p.H323Y			Q16666	IF16_HUMAN			5	1222	+	all_hematologic(112;0.0429)		323			HIN-200 1.		B4DJT8|H3BLV7|Q59GX0|Q5T3W7|Q5T3W8|Q5T3X0|Q5T3X1|Q5T3X2|Q8N9E5|Q8NEQ7|Q96AJ5|Q9UH78	Missense_Mutation	SNP	ENST00000295809.7	37	c.967C>T		.	.	.	.	.	.	.	.	.	.	C	1.674	-0.508216	0.04231	.	.	ENSG00000163565	ENST00000295809;ENST00000340979;ENST00000368131;ENST00000368132;ENST00000430894	T;T;T;T;T	0.13901	2.55;2.55;2.55;2.55;2.55	3.09	-1.63	0.08345	HIN-200/IF120x (2);Nucleic acid-binding, OB-fold (1);	.	.	.	.	T	0.05868	0.0153	L	0.54323	1.7	0.09310	N	1	P;P;P	0.46277	0.875;0.849;0.875	B;B;B	0.43867	0.434;0.308;0.434	T	0.30268	-0.9984	8	.	.	.	.	8.7712	0.34733	0.7112:0.2888:0.0:0.0	.	271;323;323	E7EPR3;Q16666-2;Q16666	.;.;IF16_HUMAN	Y	323;323;323;323;271	ENSP00000295809:H323Y;ENSP00000342741:H323Y;ENSP00000357113:H323Y;ENSP00000357114:H323Y;ENSP00000394935:H271Y	.	H	+	1	0	IFI16	157255060	0.000000	0.05858	0.001000	0.08648	0.165000	0.22458	-1.250000	0.02885	-0.034000	0.13713	0.555000	0.69702	CAT		0.338	IFI16-013	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000421720.1	NM_005531		16	15	0	0	0	1	0	16	15					T	158988436	C	T	158988436	3	4	230	1	0	0	0	0	1	0	0	0	7511	478	17	3	981	3	IFI16	1	158988436	Missense_Mutation	SNP	C	TCGA-HC-8257-01A-11D-2260-08	4446425	158988436	90262185	5	10678											
PTPRC	5788	broad.mit.edu	37	chr1	198719701	198719701	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gacttttggcagatgatcttCcaaagaaaagtcaaagttat	15	12	8	6	0	2	3	1	1	1	2	3	4	3	3	1	1	0	2	1	1	5	4			TCGA-HC-8257-01A-11D-2260-08	TCGA-HC-8257-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7373089-17c1-4809-b236-dec22225a3f0	1b6bdf28-2065-413f-b851-d6834173d5f0	g.chr1:198719701C>T	ENST00000367376.2	+	29	3318	c.3147C>T	c.(3145-3147)ttC>ttT	p.F1049F	PTPRC_ENST00000348564.6_Silent_p.F890F|PTPRC_ENST00000352140.3_Silent_p.F1001F|PTPRC_ENST00000594404.1_Silent_p.F888F|PTPRC_ENST00000442510.2_Silent_p.F1051F	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	1049	Tyrosine-protein phosphatase 2. {ECO:0000255|PROSITE-ProRule:PRU00160}.				axon guidance (GO:0007411)|B cell proliferation (GO:0042100)|B cell receptor signaling pathway (GO:0050853)|bone marrow development (GO:0048539)|cell cycle phase transition (GO:0044770)|cell surface receptor signaling pathway (GO:0007166)|defense response to virus (GO:0051607)|dephosphorylation (GO:0016311)|hematopoietic progenitor cell differentiation (GO:0002244)|immunoglobulin biosynthetic process (GO:0002378)|negative regulation of cell adhesion involved in substrate-bound cell migration (GO:0006933)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of T cell mediated cytotoxicity (GO:0001915)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of antigen receptor-mediated signaling pathway (GO:0050857)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of hematopoietic stem cell migration (GO:2000473)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of stem cell proliferation (GO:2000648)|positive regulation of T cell proliferation (GO:0042102)|protein dephosphorylation (GO:0006470)|regulation of cell cycle (GO:0051726)|release of sequestered calcium ion into cytosol (GO:0051209)|stem cell development (GO:0048864)|T cell differentiation (GO:0030217)|T cell receptor signaling pathway (GO:0050852)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						AGATGATCTTCCAAAGAAAAG	0.393																																						ENST00000367376.2																			0				breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						c.(3145-3147)ttC>ttT		protein tyrosine phosphatase, receptor type, C							147	144	145					1																	198719701		2203	4300	6503	SO:0001819	synonymous_variant	5788				axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway	focal adhesion|integral to plasma membrane|membrane raft	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr1:198719701C>T	Y00062	CCDS1397.1, CCDS1398.1, CCDS44291.1, CCDS1397.2, CCDS1398.2, CCDS44291.2	1q31-q32	2014-09-17			ENSG00000081237	ENSG00000081237		"CD molecules", "Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Fibronectin type III domain containing"	9666	protein-coding gene	gene with protein product		151460		CD45		2169617	Standard	NM_001267798		Approved	LCA, T200, GP180	uc001gur.2	P08575	OTTHUMG00000035702	ENST00000367376.2:c.3147C>T	1.37:g.198719701C>T						PTPRC_ENST00000594404.1_Silent_p.F888F|PTPRC_ENST00000352140.3_Silent_p.F1001F|PTPRC_ENST00000348564.6_Silent_p.F890F|PTPRC_ENST00000442510.2_Silent_p.F1051F	p.F1049F	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN			29	3318	+			1049			Tyrosine-protein phosphatase 2.		A8K7W6|Q16614|Q9H0Y6	Silent	SNP	ENST00000367376.2	37	c.3147C>T																																																																																					0.393	PTPRC-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding				13	83	0	0	0	1	0	13	83					T	198719701	C	T	198719701	2	4	230	1	0	0	0	0	0	0	0	1	12797	854	30	3		3	PTPRC	1	198719701	Silent	SNP	C	TCGA-HC-8257-01A-11D-2260-08	39731265	198719701	50530920	6	10679											
OBSCN	84033	broad.mit.edu	37	chr1	228452055	228452055	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggggagtacagctgcaaggcCggggatcagcggctgtcctt	7	7	17	10	2	1	0	1	0	0	0	2	2	2	2	2	6	4	4	2	6	2	2			TCGA-HC-8257-01A-11D-2260-08	TCGA-HC-8257-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7373089-17c1-4809-b236-dec22225a3f0	1b6bdf28-2065-413f-b851-d6834173d5f0	g.chr1:228452055C>T	ENST00000422127.1	+	16	4868	c.4824C>T	c.(4822-4824)gcC>gcT	p.A1608A	OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000570156.2_Silent_p.A1792A|OBSCN_ENST00000284548.11_Silent_p.A1608A|OBSCN_ENST00000359599.6_Silent_p.A264A|OBSCN_ENST00000366707.4_5'UTR	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	1608	Ig-like 16.				apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GCTGCAAGGCCGGGGATCAGC	0.657																																						ENST00000570156.2																			0				NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223						c.(5374-5376)gcC>gcT		obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF							34	44	41					1																	228452055		2129	4234	6363	SO:0001819	synonymous_variant	84033				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	g.chr1:228452055C>T	AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"Rho guanine nucleotide exchange factors", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.4824C>T	1.37:g.228452055C>T						OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000359599.6_Silent_p.A264A|OBSCN_ENST00000284548.11_Silent_p.A1608A|OBSCN_ENST00000422127.1_Silent_p.A1608A	p.A1792A	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN			18	5450	+		Prostate(94;0.0405)	780		R -> H (in a colorectal cancer sample; somatic mutation).	Fibronectin type-III 2.		Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Silent	SNP	ENST00000422127.1	37	c.5376C>T	CCDS58065.1																																																																																				0.657	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843		4	50	0	0	0	1	0	4	50					T	228452055	C	T	228452055	2	4	230	1	0	0	0	0	0	0	0	1	10812	639	23	2		2	OBSCN	1	228452055	Silent	SNP	C	TCGA-HC-8257-01A-11D-2260-08	29732354	228452055	20798566	7	10680											
OR2T2	401992	broad.mit.edu	37	chr1	248616338	248616338	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tacatctgtatcactgtcccCaagatgctccaggacctcct	9	11	6	15	0	2	1	1	0	1	1	5	2	5	2	5	1	2	2	5	1	3	2			TCGA-HC-8257-01A-11D-2260-08	TCGA-HC-8257-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7373089-17c1-4809-b236-dec22225a3f0	1b6bdf28-2065-413f-b851-d6834173d5f0	g.chr1:248616338C>T	ENST00000342927.3	+	1	262	c.240C>T	c.(238-240)ccC>ccT	p.P80P		NM_001004136.1	NP_001004136.1	Q6IF00	OR2T2_HUMAN	olfactory receptor, family 2, subfamily T, member 2	80						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(21)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	37	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TCACTGTCCCCAAGATGCTCC	0.522																																						ENST00000342927.3																			0				cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(21)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	37						c.(238-240)ccC>ccT		olfactory receptor, family 2, subfamily T, member 2							135	159	151					1																	248616338		2203	4297	6500	SO:0001819	synonymous_variant	401992				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248616338C>T	BK004462	CCDS31116.1	1q44	2012-08-09	2002-11-13	2002-11-15	ENSG00000196240	ENSG00000196240		"GPCR / Class A : Olfactory receptors"	14725	protein-coding gene	gene with protein product			"olfactory receptor, family 2, subfamily T, member 2 pseudogene"	OR2T2P		14983052	Standard	NM_001004136		Approved		uc001iek.1	Q6IF00	OTTHUMG00000040480	ENST00000342927.3:c.240C>T	1.37:g.248616338C>T							p.P80P	NM_001004136.1	NP_001004136.1	Q6IF00	OR2T2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	262	+	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		80					B2RNM1|B9EH01	Silent	SNP	ENST00000342927.3	37	c.240C>T	CCDS31116.1																																																																																				0.522	OR2T2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097421.1	NM_001004136		6	174	0	0	0	1	0	6	174					T	248616338	C	T	248616338	2	4	230	1	0	0	0	0	0	0	0	1	11020	581	21	3		3	OR2T2	1	248616338	Silent	SNP	C	TCGA-HC-8257-01A-11D-2260-08	20164283	248616338	634283	8	10681											
SH3BP5L	80851	broad.mit.edu	37	chr1	249118997	249118997	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcctctcttggggacaatttGgcctcactgctgctgcttcc	4	14	9	14	0	2	0	1	0	1	0	5	1	4	1	3	3	3	3	3	3	1	3			TCGA-HC-8257-01A-11D-2260-08	TCGA-HC-8257-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7373089-17c1-4809-b236-dec22225a3f0	1b6bdf28-2065-413f-b851-d6834173d5f0	g.chr1:249118997G>T	ENST00000366472.5	-	2	1367	c.138C>A	c.(136-138)gcC>gcA	p.A46A	SH3BP5L_ENST00000475978.1_5'UTR|MIR3124_ENST00000582636.1_RNA	NM_030645.1	NP_085148.1	Q7L8J4	3BP5L_HUMAN	SH3-binding domain protein 5-like	46										endometrium(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.19)	OV - Ovarian serous cystadenocarcinoma(106;0.00805)			GGGACAATTTGGCCTCACTGC	0.577																																						ENST00000366472.5																			0				endometrium(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23						c.(136-138)gcC>gcA		SH3-binding domain protein 5-like							192	191	191					1																	249118997		2203	4300	6503	SO:0001819	synonymous_variant	80851							g.chr1:249118997G>T	AB051507	CCDS31126.1	1q44	2008-02-05			ENSG00000175137	ENSG00000175137			29360	protein-coding gene	gene with protein product							Standard	NM_030645		Approved	KIAA1720	uc001iew.1	Q7L8J4	OTTHUMG00000040389	ENST00000366472.5:c.138C>A	1.37:g.249118997G>T						SH3BP5L_ENST00000475978.1_5'UTR	p.A46A	NM_030645.1	NP_085148.1	Q7L8J4	3BP5L_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00805)		2	1367	-	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.19)	46					B4DQ94|Q96FI5|Q9BQH8|Q9C0E3	Silent	SNP	ENST00000366472.5	37	c.138C>A	CCDS31126.1																																																																																				0.577	SH3BP5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097140.1	NM_030645		64	131	1	0	8.70598e-44	1	9.87545e-44	64	131					T	249118997	G	T	249118997	2	4	230	1	0	0	0	0	0	0	0	1	14248	1335	47	5		5	SH3BP5L	1	249118997	Silent	SNP	G	TCGA-HC-8257-01A-11D-2260-08	502659	249118997	131624	9	10682											
LTBP1	4052	broad.mit.edu	37	chr2	33567955	33567955	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtgacagtcacgggttttgtGacaatacagctggctccttc	8	12	11	10	1	1	2	1	2	0	0	3	2	2	2	1	2	2	3	1	2	2	4			TCGA-HC-8257-01A-11D-2260-08	TCGA-HC-8257-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7373089-17c1-4809-b236-dec22225a3f0	1b6bdf28-2065-413f-b851-d6834173d5f0	g.chr2:33567955G>A	ENST00000404816.2	+	25	4134	c.3781G>A	c.(3781-3783)Gac>Aac	p.D1261N	LTBP1_ENST00000407925.1_Missense_Mutation_p.D935N|LTBP1_ENST00000390003.4_Missense_Mutation_p.D936N|LTBP1_ENST00000402934.1_Missense_Mutation_p.D882N|LTBP1_ENST00000404525.1_Missense_Mutation_p.D882N|LTBP1_ENST00000272273.5_Intron|LTBP1_ENST00000354476.3_Missense_Mutation_p.D1262N|LTBP1_ENST00000418533.2_Intron			Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding protein 1	1261	EGF-like 13; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				extracellular matrix organization (GO:0030198)|sequestering of TGFbeta in extracellular matrix (GO:0035583)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta-activated receptor activity (GO:0005024)			breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				CGGGTTTTGTGACAATACAGC	0.448																																						ENST00000404816.2																			0				breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108						c.(3781-3783)Gac>Aac		latent transforming growth factor beta binding protein 1							150	127	135					2																	33567955		2203	4300	6503	SO:0001583	missense	4052				negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta	proteinaceous extracellular matrix	calcium ion binding|growth factor binding|transforming growth factor beta receptor activity	g.chr2:33567955G>A		CCDS33177.1, CCDS33178.1, CCDS33177.2, CCDS33178.2, CCDS54344.1, CCDS54345.1	2p22-p21	2008-05-23			ENSG00000049323	ENSG00000049323		"Latent transforming growth factor, beta binding proteins"	6714	protein-coding gene	gene with protein product	"TGF-beta1-BP-1"	150390				2350783, 11104663	Standard	NM_206943		Approved		uc021vft.1	Q14766	OTTHUMG00000152118	ENST00000404816.2:c.3781G>A	2.37:g.33567955G>A	ENSP00000386043:p.Asp1261Asn					LTBP1_ENST00000272273.5_Intron|LTBP1_ENST00000407925.1_Missense_Mutation_p.D935N|LTBP1_ENST00000402934.1_Missense_Mutation_p.D882N|LTBP1_ENST00000418533.2_Intron|LTBP1_ENST00000354476.3_Missense_Mutation_p.D1262N|LTBP1_ENST00000404525.1_Missense_Mutation_p.D882N|LTBP1_ENST00000390003.4_Missense_Mutation_p.D936N	p.D1261N			Q14766	LTBP1_HUMAN			25	4134	+	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)	1261			EGF-like 13; calcium-binding (Potential).		A1L3V1|P22064|Q53SD8|Q53SF3|Q53SG1|Q59HF7|Q8TD95	Missense_Mutation	SNP	ENST00000404816.2	37	c.3781G>A	CCDS33177.2	.	.	.	.	.	.	.	.	.	.	G	33	5.226177	0.95173	.	.	ENSG00000049323	ENST00000404816;ENST00000354476;ENST00000390003;ENST00000402934;ENST00000404525;ENST00000407925	D;D;D;D;D;D	0.95447	-3.71;-3.71;-3.71;-3.71;-3.71;-3.71	5.91	5.91	0.95273	.	.	.	.	.	D	0.92280	0.7551	N	0.02721	-0.515	0.80722	D	1	P;P;P;P	0.52061	0.837;0.95;0.95;0.915	P;P;P;P	0.53185	0.642;0.72;0.72;0.72	D	0.93169	0.6564	9	0.40728	T	0.16	.	20.3045	0.98621	0.0:0.0:1.0:0.0	.	882;935;936;1262	Q14766-3;Q14766-2;Q14766-5;Q14766-4	.;.;.;.	N	1261;1262;936;882;882;935	ENSP00000386043:D1261N;ENSP00000346467:D1262N;ENSP00000374653:D936N;ENSP00000384373:D882N;ENSP00000385359:D882N;ENSP00000384091:D935N	ENSP00000346467:D1262N	D	+	1	0	LTBP1	33421459	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.240000	0.78192	2.807000	0.96579	0.557000	0.71058	GAC		0.448	LTBP1-014	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000326227.2	NM_206943		5	75	0	0	0	1	0	5	75					A	33567955	G	A	33567955	3	1	230	1	0	0	0	0	1	0	0	0	9073	1290	45	3	3934	3	LTBP1	2	33567955	Missense_Mutation	SNP	G	TCGA-HC-8257-01A-11D-2260-08		33567955	209631418	10	10683											
ACOXL	55289	broad.mit.edu	37	chr2	111562876	111562876	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagatggacagtaccattcGcctattaggaacaagagtgc	13	8	10	10	1	0	2	0	0	0	2	1	4	0	4	3	2	3	1	3	2	5	4	rs139248421		TCGA-HC-8257-01A-11D-2260-08	TCGA-HC-8257-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7373089-17c1-4809-b236-dec22225a3f0	1b6bdf28-2065-413f-b851-d6834173d5f0	g.chr2:111562876G>A	ENST00000389811.4	+	9	881	c.657G>A	c.(655-657)tcG>tcA	p.S219S	ACOXL_ENST00000439055.1_Silent_p.S219S|ACOXL_ENST00000340561.4_Silent_p.S219S			Q9NUZ1	ACOXL_HUMAN	acyl-CoA oxidase-like	219				S -> L (in Ref. 3; AAH22268). {ECO:0000305}.	fatty acid beta-oxidation (GO:0006635)	peroxisome (GO:0005777)	acyl-CoA dehydrogenase activity (GO:0003995)|acyl-CoA oxidase activity (GO:0003997)	p.S219S(1)		kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(1)	21						AGTACCATTCGCCTATTAGGA	0.493													G|||	1	0.000199681	0	0	5008	,	,		20797	0		0.001	False		,,,				2504	0					ENST00000389811.4																			1	Substitution - coding silent(1)	p.S219S(1)	large_intestine(1)	kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(1)	21						c.(655-657)tcG>tcA		acyl-CoA oxidase-like		G		2,4404	4.2+/-10.8	0,2,2201	152	137	142		657	-8.6	0	2	dbSNP_134	142	15,8585	11.2+/-40.8	0,15,4285	no	coding-synonymous	ACOXL	NM_001142807.1		0,17,6486	AA,AG,GG		0.1744,0.0454,0.1307		219/581	111562876	17,12989	2203	4300	6503	SO:0001819	synonymous_variant	55289				fatty acid beta-oxidation	peroxisome	acyl-CoA dehydrogenase activity|acyl-CoA oxidase activity	g.chr2:111562876G>A		CCDS46389.1	2q13	2010-06-30	2010-04-30		ENSG00000153093	ENSG00000153093			25621	protein-coding gene	gene with protein product			"acyl-Coenzyme A oxidase-like"				Standard	NM_001142807		Approved	FLJ11042	uc010yxk.1	Q9NUZ1	OTTHUMG00000131257	ENST00000389811.4:c.657G>A	2.37:g.111562876G>A						ACOXL_ENST00000340561.4_Silent_p.S219S|ACOXL_ENST00000439055.1_Silent_p.S219S	p.S219S			Q9NUZ1	ACOXL_HUMAN			9	881	+			219	S -> L (in Ref. 3; AAH22268).				A2RRB7|B7WPB3|B7WPP7|E9PB20|Q53R27|Q53R31|Q53SC6|Q8TCE7	Silent	SNP	ENST00000389811.4	37	c.657G>A																																																																																					0.493	ACOXL-001	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000254024.2	NM_018308		3	88	0	0	0	1	0	3	88					A	111562876	G	A	111562876	2	1	230	1	0	0	0	0	0	0	0	1	161	1074	38	1		1	ACOXL	2	111562876	Silent	SNP	G	TCGA-HC-8257-01A-11D-2260-08	77994921	111562876	131636497	11	10684											
NCKAP5	344148	broad.mit.edu	37	chr2	133489328	133489328	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	acctgaggaagctggtttggGgaggcggctctgaagaggcc	8	7	18	8	1	1	3	0	2	1	1	1	5	1	5	2	7	1	3	2	7	2	1			TCGA-HC-8257-01A-11D-2260-08	TCGA-HC-8257-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7373089-17c1-4809-b236-dec22225a3f0	1b6bdf28-2065-413f-b851-d6834173d5f0	g.chr2:133489328G>A	ENST00000409261.1	-	17	5798	c.5425C>T	c.(5425-5427)Ccc>Tcc	p.P1809S	NCKAP5_ENST00000317721.6_Missense_Mutation_p.P1809S|NCKAP5_ENST00000405974.3_Missense_Mutation_p.P490S|NCKAP5_ENST00000473859.1_5'Flank|NCKAP5_ENST00000409213.1_Missense_Mutation_p.P490S	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	1809										NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						GCTGGTTTGGGGAGGCGGCTC	0.512																																						ENST00000409261.1																			0				NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						c.(5425-5427)Ccc>Tcc		NCK-associated protein 5							56	58	57					2																	133489328		1931	4136	6067	SO:0001583	missense	344148						protein binding	g.chr2:133489328G>A	AB005217	CCDS46417.1, CCDS46418.1	2q21.2	2010-02-17			ENSG00000176771	ENSG00000176771			29847	protein-coding gene	gene with protein product	"Nck associated protein 5", "peripheral clock protein"	608789				9344857	Standard	NM_207363		Approved	NAP5, ERIH1, ERIH2	uc002ttp.3	O14513	OTTHUMG00000153573	ENST00000409261.1:c.5425C>T	2.37:g.133489328G>A	ENSP00000387128:p.Pro1809Ser					NCKAP5_ENST00000409213.1_Missense_Mutation_p.P490S|NCKAP5_ENST00000405974.3_Missense_Mutation_p.P490S|NCKAP5_ENST00000317721.6_Missense_Mutation_p.P1809S	p.P1809S	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN			17	5798	-			1809					B8ZZL0|Q29SS9|Q29ST0|Q2NL90|Q6ZVE2|Q8NAS3	Missense_Mutation	SNP	ENST00000409261.1	37	c.5425C>T	CCDS46418.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.335771	0.81801	.	.	ENSG00000176771	ENST00000409261;ENST00000409213;ENST00000317721;ENST00000405974;ENST00000537661	T;T;T;T	0.58210	2.37;0.35;2.37;0.35	5.43	5.43	0.79202	.	0.000000	0.32134	U	0.006527	T	0.63450	0.2512	L	0.29908	0.895	0.37243	D	0.906192	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.69072	-0.5242	10	0.87932	D	0	.	17.6062	0.88039	0.0:0.0:1.0:0.0	.	490;1809	O14513-2;O14513	.;NCKP5_HUMAN	S	1809;490;1809;490;490	ENSP00000387128:P1809S;ENSP00000386952:P490S;ENSP00000380603:P1809S;ENSP00000385692:P490S	ENSP00000380603:P1809S	P	-	1	0	NCKAP5	133205798	1.000000	0.71417	1.000000	0.80357	0.853000	0.48598	5.940000	0.70187	2.827000	0.97445	0.650000	0.86243	CCC		0.512	NCKAP5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331663.1	NM_207481		3	32	0	0	0	1	0	3	32					A	133489328	G	A	133489328	3	1	230	1	0	0	0	0	1	0	0	0	10223	1232	43	3	320	3	NCKAP5	2	133489328	Missense_Mutation	SNP	G	TCGA-HC-8257-01A-11D-2260-08	21926452	133489328	109710045	12	10685											
TTN	7273	broad.mit.edu	37	chr2	179516426	179516426	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tagttcaggttttttggcaaCgacagcaggtgctttctttt	7	17	10	7	1	2	0	1	0	1	0	2	1	2	0	0	3	3	5	0	3	2	8	rs374394719	byFrequency	TCGA-HC-8257-01A-11D-2260-08	TCGA-HC-8257-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7373089-17c1-4809-b236-dec22225a3f0	1b6bdf28-2065-413f-b851-d6834173d5f0	g.chr2:179516426C>T	ENST00000591111.1	-	161	35133	c.34909G>A	c.(34909-34911)Gtt>Att	p.V11637I	TTN_ENST00000342992.6_Missense_Mutation_p.V10710I|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.V13144I|TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000592630.1_RNA			Q8WZ42	TITIN_HUMAN	titin	11637	Glu-rich.|Pro-rich.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTTTTGGCAACGACAGCAGGT	0.398													C|||	4	0.000798722	0.003	0	5008	,	,		18858	0		0	False		,,,				2504	0					ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(39430-39432)Gtt>Att		titin		C	,,,ILE/VAL	2,3746		0,2,1872	125	117	120		,,,32128	-3.8	0	2		120	0,8214		0,0,4107	no	intron,intron,intron,missense	TTN	NM_003319.4,NM_133432.3,NM_133437.3,NM_133378.4	,,,29	0,2,5979	TT,TC,CC		0.0,0.0534,0.0167	,,,benign	,,,10710/33424	179516426	2,11960	1874	4107	5981	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179516426C>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.34909G>A	2.37:g.179516426C>T	ENSP00000465570:p.Val11637Ile					TTN_ENST00000342992.6_Missense_Mutation_p.V10710I|TTN_ENST00000591111.1_Missense_Mutation_p.V11637I|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000592630.1_RNA	p.V13144I	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		206	39654	-			11497			Ig-like 87.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.39430G>A		.	.	.	.	.	.	.	.	.	.	C	11.52	1.662597	0.29515	5.34E-4	0.0	ENSG00000155657	ENST00000342992	T	0.64260	-0.09	5.13	-3.79	0.04320	Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);	.	.	.	.	T	0.49115	0.1538	L	0.33485	1.01	0.09310	N	0.999993	B	0.02656	0.0	B	0.01281	0.0	T	0.40720	-0.9548	9	0.87932	D	0	.	13.1812	0.59655	0.0:0.4354:0.0:0.5645	.	11637	Q8WZ42	TITIN_HUMAN	I	10710	ENSP00000343764:V10710I	ENSP00000343764:V10710I	V	-	1	0	TTN	179224671	0.000000	0.05858	0.002000	0.10522	0.904000	0.53231	-3.768000	0.00371	-0.939000	0.03709	0.650000	0.86243	GTT		0.398	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		9	12	0	0	0	1	0	9	12					T	179516426	C	T	179516426	3	4	230	1	0	0	0	0	1	0	0	0	16732	536	19	1	68469	1	TTN	2	179516426	Missense_Mutation	SNP	C	TCGA-HC-8257-01A-11D-2260-08	46027098	179516426	63682947	13	10686											
NRP2	8828	broad.mit.edu	37	chr2	206562279	206562279	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctctttcagacccaccgtgcGgaggtcgtttgaattccaaa	9	11	9	12	3	2	2	1	1	1	1	4	3	3	3	3	2	1	1	3	2	2	3			TCGA-HC-8257-01A-11D-2260-08	TCGA-HC-8257-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7373089-17c1-4809-b236-dec22225a3f0	1b6bdf28-2065-413f-b851-d6834173d5f0	g.chr2:206562279G>A	ENST00000357785.5	+	2	116	c.85G>A	c.(85-87)Gga>Aga	p.G29R	NRP2_ENST00000360409.3_Missense_Mutation_p.G29R|NRP2_ENST00000540841.1_Missense_Mutation_p.G29R|NRP2_ENST00000357118.4_Missense_Mutation_p.G29R|NRP2_ENST00000412873.2_Missense_Mutation_p.G29R|NRP2_ENST00000272849.3_Missense_Mutation_p.G29R|NRP2_ENST00000417189.1_Missense_Mutation_p.G29R|NRP2_ENST00000355117.4_Missense_Mutation_p.G29R|NRP2_ENST00000540178.1_Missense_Mutation_p.G29R			Q99435	NELL2_HUMAN	neuropilin 2	0						extracellular region (GO:0005576)	calcium ion binding (GO:0005509)	p.G29*(4)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(14)|lung(19)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	52						CCCACCGTGCGGAGGTCGTTT	0.512																																						ENST00000360409.3																			4	Substitution - Nonsense(4)	p.G29*(4)	lung(4)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(14)|lung(19)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	52						c.(85-87)Gga>Aga		neuropilin 2							294	282	286					2																	206562279		2203	4300	6503	SO:0001583	missense	8828				angiogenesis|axon guidance|cell adhesion	integral to membrane|membrane fraction|plasma membrane	heparin binding|metal ion binding|semaphorin receptor activity|vascular endothelial growth factor receptor activity	g.chr2:206562279G>A	AF016098	CCDS2364.1, CCDS2365.1, CCDS46496.1, CCDS46497.1, CCDS46498.1, CCDS46499.1	2q33.3	2008-05-23			ENSG00000118257	ENSG00000118257			8005	protein-coding gene	gene with protein product		602070				9529250, 9331348	Standard	NM_003872		Approved	VEGF165R2	uc002vaw.3	O60462	OTTHUMG00000132893	ENST00000357785.5:c.85G>A	2.37:g.206562279G>A	ENSP00000350432:p.Gly29Arg					NRP2_ENST00000412873.2_Missense_Mutation_p.G29R|NRP2_ENST00000540841.1_Missense_Mutation_p.G29R|NRP2_ENST00000357118.4_Missense_Mutation_p.G29R|NRP2_ENST00000272849.3_Missense_Mutation_p.G29R|NRP2_ENST00000355117.4_Missense_Mutation_p.G29R|NRP2_ENST00000417189.1_Missense_Mutation_p.G29R|NRP2_ENST00000357785.5_Missense_Mutation_p.G29R|NRP2_ENST00000540178.1_Missense_Mutation_p.G29R	p.G29R	NM_003872.2|NM_201266.1|NM_201279.1	NP_003863.2|NP_957718.1|NP_958436.1	O60462	NRP2_HUMAN			2	876	+			29			CUB 1.		B7Z2U7|B7Z5Q4|B7Z9J5|B7Z9U3|Q96JS2	Missense_Mutation	SNP	ENST00000357785.5	37	c.85G>A	CCDS46496.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.242779	0.79912	.	.	ENSG00000118257	ENST00000340626;ENST00000360409;ENST00000540178;ENST00000540841;ENST00000355117;ENST00000450507;ENST00000417189;ENST00000357118;ENST00000357785;ENST00000412873;ENST00000272849	T;T;T;T;T;T;T;T;T;T	0.38887	1.9;1.9;1.9;1.9;1.11;1.9;1.9;1.9;1.9;1.9	5.37	5.37	0.77165	CUB (5);	0.000000	0.85682	D	0.000000	T	0.77116	0.4083	H	0.96269	3.795	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;1.0	D	0.85008	0.0904	10	0.87932	D	0	-12.6744	19.1206	0.93362	0.0:0.0:1.0:0.0	.	29;29;29;29;29;29	O60462-2;O60462-3;O60462;O60462-4;O60462-5;E9PF66	.;.;NRP2_HUMAN;.;.;.	R	29	ENSP00000353582:G29R;ENSP00000439658:G29R;ENSP00000439261:G29R;ENSP00000347238:G29R;ENSP00000404279:G29R;ENSP00000387519:G29R;ENSP00000349632:G29R;ENSP00000350432:G29R;ENSP00000407626:G29R;ENSP00000272849:G29R	ENSP00000272849:G29R	G	+	1	0	NRP2	206270524	1.000000	0.71417	1.000000	0.80357	0.794000	0.44872	7.628000	0.83189	2.497000	0.84241	0.655000	0.94253	GGA		0.512	NRP2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000336467.1			143	316	0	0	0	1	0	143	316					A	206562279	G	A	206562279	3	1	230	1	0	0	0	0	1	0	0	0	10661	1117	39	2	91	2	NRP2	2	206562279	Missense_Mutation	SNP	G	TCGA-HC-8257-01A-11D-2260-08	27045853	206562279	36637094	14	10687											
ZNF385D	79750	broad.mit.edu	37	chr3	21606147	21606147	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	agaggaaccccgaatgtatgGtttattacagctttctgaat	12	13	9	7	1	1	2	0	1	1	1	1	4	1	3	2	2	3	3	2	2	6	5	rs370927931		TCGA-HC-8257-01A-11D-2260-08	TCGA-HC-8257-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7373089-17c1-4809-b236-dec22225a3f0	1b6bdf28-2065-413f-b851-d6834173d5f0	g.chr3:21606147G>T	ENST00000281523.2	-	3	713	c.195C>A	c.(193-195)aaC>aaA	p.N65K	ZNF385D-AS1_ENST00000412369.1_RNA|ZNF385D_ENST00000494118.1_5'UTR	NM_024697.2	NP_078973.1	Q9H6B1	Z385D_HUMAN	zinc finger protein 385D	65						nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			NS(2)|breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(1)|prostate(1)|skin(4)	46						CGAATGTATGGTTTATTACAG	0.348																																						ENST00000281523.2																			0				NS(2)|breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(1)|prostate(1)|skin(4)	46						c.(193-195)aaC>aaA		zinc finger protein 385D		G	LYS/ASN	1,4405	2.1+/-5.4	0,1,2202	138	136	137		195	2.2	1	3		137	0,8600		0,0,4300	no	missense	ZNF385D	NM_024697.2	94	0,1,6502	TT,TG,GG		0.0,0.0227,0.0077	probably-damaging	65/396	21606147	1,13005	2203	4300	6503	SO:0001583	missense	79750					nucleus	nucleic acid binding|zinc ion binding	g.chr3:21606147G>T	BC007212	CCDS2636.1	3p24.3	2012-10-05	2007-12-06	2007-12-06	ENSG00000151789	ENSG00000151789			26191	protein-coding gene	gene with protein product			"zinc finger protein 659"	ZNF659		12477932	Standard	NM_024697		Approved	FLJ22419	uc003cce.3	Q9H6B1	OTTHUMG00000130484	ENST00000281523.2:c.195C>A	3.37:g.21606147G>T	ENSP00000281523:p.Asn65Lys					ZNF385D-AS1_ENST00000412369.1_RNA|ZNF385D_ENST00000494118.1_5'UTR	p.N65K	NM_024697.2	NP_078973.1	Q9H6B1	Z385D_HUMAN			3	713	-			65						Missense_Mutation	SNP	ENST00000281523.2	37	c.195C>A	CCDS2636.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.985898	0.74589	2.27E-4	0.0	ENSG00000151789	ENST00000281523	T	0.39997	1.05	5.94	2.18	0.27775	.	0.046814	0.85682	D	0.000000	T	0.54464	0.1860	L	0.54323	1.7	0.37094	D	0.899571	D	0.71674	0.998	D	0.78314	0.991	T	0.58451	-0.7634	10	0.52906	T	0.07	-7.9282	9.8349	0.40963	0.7963:0.0:0.2037:0.0	.	65	Q9H6B1	Z385D_HUMAN	K	65	ENSP00000281523:N65K	ENSP00000281523:N65K	N	-	3	2	ZNF385D	21581151	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	1.745000	0.38278	0.486000	0.27676	-0.367000	0.07326	AAC		0.348	ZNF385D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252884.1	NM_024697		26	65	1	0	3.03874e-20	1	3.34702e-20	26	65					T	21606147	G	T	21606147	3	4	230	1	0	0	0	0	1	0	0	0	17875	1252	44	5	1016	5	ZNF385D	3	21606147	Missense_Mutation	SNP	G	TCGA-HC-8257-01A-11D-2260-08		21606147	176416283	15	10688											
PCBP4	57060	broad.mit.edu	37	chr3	51992215	51992215	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aagggcatgggcttgaggccGatgaagttggagagggagat	11	7	19	4	1	0	4	0	2	0	2	0	7	0	4	1	5	0	3	1	5	2	2			TCGA-HC-8257-01A-11D-2260-08	TCGA-HC-8257-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7373089-17c1-4809-b236-dec22225a3f0	1b6bdf28-2065-413f-b851-d6834173d5f0	g.chr3:51992215G>A	ENST00000461554.1	-	14	1405	c.1074C>T	c.(1072-1074)atC>atT	p.I358I	PCBP4_ENST00000428823.2_Silent_p.I315I|PCBP4_ENST00000471622.1_Intron|PCBP4_ENST00000395014.2_Silent_p.I379I|PCBP4_ENST00000355852.2_Silent_p.I358I|PCBP4_ENST00000484633.1_Silent_p.I315I|PCBP4_ENST00000322099.7_Silent_p.I358I|PCBP4_ENST00000395013.3_Silent_p.I198I	NM_001174100.1	NP_001167571.1	P57723	PCBP4_HUMAN	poly(rC) binding protein 4	358						cytoplasm (GO:0005737)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(2)|large_intestine(2)|lung(2)|prostate(1)|stomach(1)	8				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000534)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		GCTTGAGGCCGATGAAGTTGG	0.662																																						ENST00000461554.1																			0				endometrium(2)|large_intestine(2)|lung(2)|prostate(1)|stomach(1)	8						c.(1072-1074)atC>atT		poly(rC) binding protein 4							84	96	92					3																	51992215		2203	4300	6503	SO:0001819	synonymous_variant	57060					cytoplasm|ribonucleoprotein complex	DNA binding|RNA binding	g.chr3:51992215G>A	AF176330	CCDS2839.1, CCDS2840.1, CCDS2840.2	3p21	2013-07-16	2001-11-28		ENSG00000090097	ENSG00000090097			8652	protein-coding gene	gene with protein product	"RNA binding protein MCG10", "LYST-interacting protein", "alphaCP-4 protein"	608503	"poly(rC)-binding protein 4"			10936052	Standard	NM_033008		Approved	MCG10, LIP4	uc003dch.2	P57723	OTTHUMG00000157366	ENST00000461554.1:c.1074C>T	3.37:g.51992215G>A						PCBP4_ENST00000484633.1_Silent_p.I315I|PCBP4_ENST00000428823.2_Silent_p.I315I|PCBP4_ENST00000395013.3_Silent_p.I198I|PCBP4_ENST00000355852.2_Silent_p.I358I|PCBP4_ENST00000322099.7_Silent_p.I358I|PCBP4_ENST00000395014.2_Silent_p.I379I|PCBP4_ENST00000471622.1_Intron	p.I358I	NM_001174100.1	NP_001167571.1	P57723	PCBP4_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000534)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	14	1405	-			358					Q96AH7	Silent	SNP	ENST00000461554.1	37	c.1074C>T	CCDS2839.1	.	.	.	.	.	.	.	.	.	.	G	9.889	1.203701	0.22121	.	.	ENSG00000090097	ENST00000294192	.	.	.	5.13	5.13	0.70059	.	.	.	.	.	T	0.66790	0.2825	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.69117	-0.5230	5	0.59425	D	0.04	-15.417	10.9552	0.47354	0.0867:0.0:0.9133:0.0	.	.	.	.	L	357	.	ENSP00000294192:S357L	S	-	2	0	PCBP4	51967255	0.827000	0.29292	1.000000	0.80357	0.993000	0.82548	-0.053000	0.11846	2.403000	0.81681	0.467000	0.42956	TCG		0.662	PCBP4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348597.1	NM_020418		3	137	0	0	0	1	0	3	137					A	51992215	G	A	51992215	2	1	230	1	0	0	0	0	0	0	0	1	11503	1048	37	2		2	PCBP4	3	51992215	Silent	SNP	G	TCGA-HC-8257-01A-11D-2260-08	30386068	51992215	146030215	16	10689											
CCDC66	285331	broad.mit.edu	37	chr3	56651182	56651182	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caccaatgcagaatcacattGtggatcattaatggagaggg	14	9	11	7	0	2	2	2	0	0	2	2	4	2	3	1	3	1	1	1	3	3	2			TCGA-HC-8257-01A-11D-2260-08	TCGA-HC-8257-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7373089-17c1-4809-b236-dec22225a3f0	1b6bdf28-2065-413f-b851-d6834173d5f0	g.chr3:56651182G>A	ENST00000394672.3	+	14	1956	c.1886G>A	c.(1885-1887)tGt>tAt	p.C629Y	CCDC66_ENST00000436465.2_Missense_Mutation_p.C629Y|CCDC66_ENST00000326595.7_Missense_Mutation_p.C595Y	NM_001012506.4|NM_001141947.1	NP_001012524.4|NP_001135419.1	A2RUB6	CCD66_HUMAN	coiled-coil domain containing 66	629					post-embryonic retina morphogenesis in camera-type eye (GO:0060060)|retinal rod cell development (GO:0046548)					breast(1)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(2)|urinary_tract(1)	12				KIRC - Kidney renal clear cell carcinoma(284;0.0478)|Kidney(284;0.0597)|OV - Ovarian serous cystadenocarcinoma(275;0.233)		GAATCACATTGTGGATCATTA	0.299																																						ENST00000394672.3																			0				breast(1)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(2)|urinary_tract(1)	12						c.(1885-1887)tGt>tAt		coiled-coil domain containing 66							74	68	70					3																	56651182		2203	4300	6503	SO:0001583	missense	285331							g.chr3:56651182G>A	AL832692	CCDS33770.2, CCDS46852.1	3p14.3	2006-03-27			ENSG00000180376	ENSG00000180376			27709	protein-coding gene	gene with protein product						14702039	Standard	NR_024460		Approved	DKFZp686C0433	uc003dhz.3	A2RUB6	OTTHUMG00000155748	ENST00000394672.3:c.1886G>A	3.37:g.56651182G>A	ENSP00000378167:p.Cys629Tyr					CCDC66_ENST00000436465.2_Missense_Mutation_p.C629Y|CCDC66_ENST00000326595.7_Missense_Mutation_p.C595Y	p.C629Y	NM_001012506.4|NM_001141947.1	NP_001012524.4|NP_001135419.1	A2RUB6	CCD66_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0478)|Kidney(284;0.0597)|OV - Ovarian serous cystadenocarcinoma(275;0.233)	14	1956	+			629					B3KWL8|Q4VC34|Q8N949	Missense_Mutation	SNP	ENST00000394672.3	37	c.1886G>A	CCDS46852.1	.	.	.	.	.	.	.	.	.	.	G	1.599	-0.527136	0.04141	.	.	ENSG00000180376	ENST00000422222;ENST00000394672;ENST00000326595;ENST00000436465	T;T;T;T	0.24350	1.86;1.89;1.89;1.89	5.58	1.42	0.22433	.	0.642824	0.15801	N	0.243967	T	0.17109	0.0411	L	0.35723	1.085	0.09310	N	0.999999	B	0.02656	0.0	B	0.06405	0.002	T	0.18147	-1.0346	10	0.52906	T	0.07	-0.9718	4.8681	0.13618	0.2667:0.1911:0.5422:0.0	.	629	A2RUB6	CCD66_HUMAN	Y	585;629;595;629	ENSP00000401451:C585Y;ENSP00000378167:C629Y;ENSP00000326050:C595Y;ENSP00000404320:C629Y	ENSP00000326050:C595Y	C	+	2	0	CCDC66	56626222	0.879000	0.30193	0.075000	0.20258	0.004000	0.04260	0.961000	0.29267	0.415000	0.25817	-0.880000	0.02959	TGT		0.299	CCDC66-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341473.1	NM_001012506		9	37	0	0	0	1	0	9	37					A	56651182	G	A	56651182	3	1	230	1	0	0	0	0	1	0	0	0	2838	1377	48	3	1940	3	CCDC66	3	56651182	Missense_Mutation	SNP	G	TCGA-HC-8257-01A-11D-2260-08	4658967	56651182	141371248	17	10690											
SLC2A9	56606	broad.mit.edu	37	chr4	9982304	9982304	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcacctgccccagagagccaCggatctccttgggtgagatc	8	8	11	14	1	2	2	1	1	1	2	4	5	2	3	5	2	2	0	5	2	0	1			TCGA-HC-8257-01A-11D-2260-08	TCGA-HC-8257-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7373089-17c1-4809-b236-dec22225a3f0	1b6bdf28-2065-413f-b851-d6834173d5f0	g.chr4:9982304C>T	ENST00000264784.3	-	5	646	c.593G>A	c.(592-594)cGt>cAt	p.R198H	SLC2A9_ENST00000506583.1_Missense_Mutation_p.R169H|SLC2A9_ENST00000309065.3_Missense_Mutation_p.R169H	NM_020041.2	NP_064425.2	Q9NRM0	GTR9_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 9	198			R -> C (in RHUC2; markedly reduced urate transport activity). {ECO:0000269|PubMed:19026395}.		glucose transport (GO:0015758)|proton transport (GO:0015992)|transmembrane transport (GO:0055085)|urate metabolic process (GO:0046415)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)	glucose transmembrane transporter activity (GO:0005355)|sugar:proton symporter activity (GO:0005351)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(1)	35					Losartan(DB00678)|Probenecid(DB01032)	CAGAGAGCCACGGATCTCCTT	0.572																																						ENST00000506583.1																			0				NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(1)	35						c.(505-507)cGt>cAt		solute carrier family 2 (facilitated glucose transporter), member 9							68	62	64					4																	9982304		2203	4300	6503	SO:0001583	missense	56606				glucose transport|urate metabolic process	integral to membrane|plasma membrane	sugar:hydrogen symporter activity	g.chr4:9982304C>T	AF210317	CCDS3406.1, CCDS3407.1	4p16.1	2013-05-22			ENSG00000109667	ENSG00000109667		"Solute carriers"	13446	protein-coding gene	gene with protein product	"urate voltage-driven efflux transporter 1"	606142				10860667, 17710649	Standard	NM_020041		Approved	Glut9, GLUTX, URATv1	uc003gmc.3	Q9NRM0	OTTHUMG00000044263	ENST00000264784.3:c.593G>A	4.37:g.9982304C>T	ENSP00000264784:p.Arg198His					SLC2A9_ENST00000264784.3_Missense_Mutation_p.R198H|SLC2A9_ENST00000309065.3_Missense_Mutation_p.R169H	p.R169H			Q9NRM0	GTR9_HUMAN			7	723	-			198					Q0VGC4|Q4W5D1|Q8WV30|Q96P00	Missense_Mutation	SNP	ENST00000264784.3	37	c.506G>A	CCDS3407.1	.	.	.	.	.	.	.	.	.	.	C	32	5.140778	0.94560	.	.	ENSG00000109667	ENST00000506583;ENST00000264784;ENST00000309065;ENST00000513129	D;D;D;D	0.82433	-1.61;-1.61;-1.61;-1.61	4.77	4.77	0.60923	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);Sugar transporter, conserved site (1);	0.071616	0.52532	D	0.000075	D	0.92264	0.7546	M	0.90252	3.1	0.45216	D	0.998222	D;D	0.89917	1.0;1.0	D;D	0.76575	0.972;0.988	D	0.93650	0.6972	9	.	.	.	.	15.3103	0.74026	0.0:1.0:0.0:0.0	.	169;198	Q9NRM0-2;Q9NRM0	.;GTR9_HUMAN	H	169;198;169;169	ENSP00000422209:R169H;ENSP00000264784:R198H;ENSP00000311383:R169H;ENSP00000426800:R169H	.	R	-	2	0	SLC2A9	9591402	1.000000	0.71417	0.973000	0.42090	0.949000	0.60115	7.142000	0.77339	2.182000	0.69389	0.650000	0.86243	CGT		0.572	SLC2A9-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207055.1			4	44	0	0	0	1	0	4	44					T	9982304	C	T	9982304	3	4	230	1	0	0	0	0	1	0	0	0	14552	536	19	1	1061	1	SLC2A9	4	9982304	Missense_Mutation	SNP	C	TCGA-HC-8257-01A-11D-2260-08		9982304	181171972	18	10691											
C4orf19	55286	broad.mit.edu	37	chr4	37592096	37592096	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tcaacccttcctggaaggagGgggcaccaggaaacaggact	12	5	13	11	0	1	0	1	0	0	0	2	4	2	4	3	6	2	1	3	6	3	1			TCGA-HC-8257-01A-11D-2260-08	TCGA-HC-8257-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7373089-17c1-4809-b236-dec22225a3f0	1b6bdf28-2065-413f-b851-d6834173d5f0	g.chr4:37592096G>T	ENST00000284437.6	+	3	597	c.419G>T	c.(418-420)gGg>gTg	p.G140V	C4orf19_ENST00000508175.1_Intron|C4orf19_ENST00000381980.4_Missense_Mutation_p.G140V|RP11-36B15.1_ENST00000503034.1_RNA	NM_018302.2	NP_060772.2	Q8IY42	CD019_HUMAN	chromosome 4 open reading frame 19	140										large_intestine(1)|lung(3)|skin(3)|stomach(1)|urinary_tract(1)	9						CTGGAAGGAGGGGGCACCAGG	0.577																																						ENST00000284437.6																			0				large_intestine(1)|lung(3)|skin(3)|stomach(1)|urinary_tract(1)	9						c.(418-420)gGg>gTg		chromosome 4 open reading frame 19							74	75	75					4																	37592096		2203	4300	6503	SO:0001583	missense	55286							g.chr4:37592096G>T	BC037906	CCDS3442.1	4p14	2008-02-05			ENSG00000154274	ENSG00000154274			25618	protein-coding gene	gene with protein product						12477932	Standard	NM_001104629		Approved	FLJ11017	uc003gsw.4	Q8IY42	OTTHUMG00000128580	ENST00000284437.6:c.419G>T	4.37:g.37592096G>T	ENSP00000284437:p.Gly140Val					C4orf19_ENST00000508175.1_Intron|C4orf19_ENST00000381980.4_Missense_Mutation_p.G140V	p.G140V	NM_018302.2	NP_060772.2	Q8IY42	CD019_HUMAN			3	597	+			140					Q9NV03	Missense_Mutation	SNP	ENST00000284437.6	37	c.419G>T	CCDS3442.1	.	.	.	.	.	.	.	.	.	.	G	14.38	2.516733	0.44763	.	.	ENSG00000154274	ENST00000381980;ENST00000284437	T;T	0.33438	1.41;1.41	5.24	0.904	0.19302	.	0.715362	0.13056	N	0.417282	T	0.28797	0.0714	L	0.47716	1.5	0.09310	N	0.999998	P	0.41188	0.741	P	0.45343	0.477	T	0.13282	-1.0515	10	0.46703	T	0.11	-4.7763	5.1444	0.14977	0.3632:0.1388:0.498:0.0	.	140	Q8IY42	CD019_HUMAN	V	140	ENSP00000371408:G140V;ENSP00000284437:G140V	ENSP00000284437:G140V	G	+	2	0	C4orf19	37268491	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.057000	0.11768	0.017000	0.15025	0.655000	0.94253	GGG		0.577	C4orf19-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250432.1	NM_018302		3	88	1	0	0.014758	1	0.014758	3	88					T	37592096	G	T	37592096	3	4	230	1	0	0	0	0	1	0	0	0	2253	1232	43	5	425	5	C4orf19	4	37592096	Missense_Mutation	SNP	G	TCGA-HC-8257-01A-11D-2260-08	27609792	37592096	153562180	19	10692											
FAM13A	10144	broad.mit.edu	37	chr4	89671667	89671667	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	taagcgtagaaccgaggagaGagcatggggtcgctgtcttc	10	8	15	8	3	1	2	0	0	1	2	3	5	1	3	1	3	3	3	1	3	3	3			TCGA-HC-8257-01A-11D-2260-08	TCGA-HC-8257-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7373089-17c1-4809-b236-dec22225a3f0	1b6bdf28-2065-413f-b851-d6834173d5f0	g.chr4:89671667G>C	ENST00000264344.5	-	15	2055	c.1848C>G	c.(1846-1848)ctC>ctG	p.L616L	FAM13A_ENST00000395002.2_Silent_p.L290L|FAM13A_ENST00000503556.1_Silent_p.L276L|FAM13A_ENST00000511976.1_Silent_p.L202L|FAM13A_ENST00000513837.1_Silent_p.L262L|FAM13A_ENST00000508369.1_Silent_p.L290L	NM_014883.3	NP_055698.2	O94988	FA13A_HUMAN	family with sequence similarity 13, member A	616					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	55						ACCGAGGAGAGAGCATGGGGT	0.577																																						ENST00000264344.5																			0				NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	55						c.(1846-1848)ctC>ctG		family with sequence similarity 13, member A							113	110	111					4																	89671667		2203	4300	6503	SO:0001819	synonymous_variant	10144				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	g.chr4:89671667G>C	AB020721	CCDS34029.1, CCDS43251.1, CCDS58911.1, CCDS58912.1, CCDS58913.1	4q22.1	2011-09-07	2009-01-20	2009-01-20	ENSG00000138640	ENSG00000138640		"Rho GTPase activating proteins"	19367	protein-coding gene	gene with protein product		613299	"family with sequence similarity 13, member A1"	FAM13A1			Standard	NM_014883		Approved	KIAA0914, ARHGAP48	uc003hse.2	O94988	OTTHUMG00000161006	ENST00000264344.5:c.1848C>G	4.37:g.89671667G>C						FAM13A_ENST00000513837.1_Silent_p.L262L|FAM13A_ENST00000508369.1_Silent_p.L290L|FAM13A_ENST00000395002.2_Silent_p.L290L|FAM13A_ENST00000511976.1_Silent_p.L202L|FAM13A_ENST00000503556.1_Silent_p.L276L	p.L616L	NM_014883.3	NP_055698.2	O94988	FA13A_HUMAN			15	2055	-			616					B4DLC1|Q24JP0|Q5PR21|Q8NBA3	Silent	SNP	ENST00000264344.5	37	c.1848C>G	CCDS34029.1																																																																																				0.577	FAM13A-022	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363371.1			31	51	0	0	0	1	0	31	51					C	89671667	G	C	89671667	2	2	230	1	0	0	0	0	0	0	0	1	5452	929	33	5		5	FAM13A	4	89671667	Silent	SNP	G	TCGA-HC-8257-01A-11D-2260-08	52079571	89671667	101482609	20	10693											
CMYA5	202333	broad.mit.edu	37	chr5	79028525	79028525	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	attccaaaataacaactacaCctatagtgcttcattcagct	15	12	3	11	0	2	0	2	0	0	0	3	0	3	0	2	0	5	2	2	0	7	7			TCGA-HC-8257-01A-11D-2260-08	TCGA-HC-8257-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7373089-17c1-4809-b236-dec22225a3f0	1b6bdf28-2065-413f-b851-d6834173d5f0	g.chr5:79028525C>T	ENST00000446378.2	+	2	3968	c.3937C>T	c.(3937-3939)Cct>Tct	p.P1313S		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	1313					negative regulation of calcineurin-NFAT signaling cascade (GO:0070885)|negative regulation of protein phosphatase type 2B activity (GO:0032513)|regulation of skeletal muscle adaptation (GO:0014733)	costamere (GO:0043034)				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		AACAACTACACCTATAGTGCT	0.378																																						ENST00000446378.2																			0				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128						c.(3937-3939)Cct>Tct		cardiomyopathy associated 5							56	55	55					5																	79028525		1893	4108	6001	SO:0001583	missense	202333					perinuclear region of cytoplasm		g.chr5:79028525C>T	AW755254, AL831986	CCDS47238.1	5q14.1	2013-02-11			ENSG00000164309	ENSG00000164309		"Tripartite motif containing / Tripartite motif containing", "A-kinase anchor proteins", "Fibronectin type III domain containing"	14305	protein-coding gene	gene with protein product	"genethonin-3", "tripartite motif-containing 76"	612193	"chromosome 5 open reading frame 10"	C5orf10		14688250	Standard	NM_153610		Approved	myospryn, SPRYD2, DKFZp451G223, TRIM76	uc003kgc.3	Q8N3K9	OTTHUMG00000162548	ENST00000446378.2:c.3937C>T	5.37:g.79028525C>T	ENSP00000394770:p.Pro1313Ser						p.P1313S	NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)	2	3968	+		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)	1313					A0PJB7|Q05CT4|Q2NKX1|Q2T9G9|Q69YQ8|Q69YQ9|Q6P517|Q6P5U3|Q7Z4I1|Q86T34|Q86T49|Q8N3S4|Q8N3S7|Q8NAG8|Q9UK88	Missense_Mutation	SNP	ENST00000446378.2	37	c.3937C>T	CCDS47238.1	.	.	.	.	.	.	.	.	.	.	C	3.097	-0.185682	0.06340	.	.	ENSG00000164309	ENST00000446378	T	0.59364	0.27	5.76	1.93	0.25924	.	1.140400	0.06581	N	0.750355	T	0.42944	0.1225	N	0.17674	0.51	0.09310	N	1	B	0.19445	0.036	B	0.18263	0.021	T	0.33292	-0.9874	10	0.46703	T	0.11	.	7.9172	0.29825	0.0:0.5686:0.0:0.4314	.	1313	Q8N3K9	CMYA5_HUMAN	S	1313	ENSP00000394770:P1313S	ENSP00000394770:P1313S	P	+	1	0	CMYA5	79064281	0.000000	0.05858	0.002000	0.10522	0.006000	0.05464	-0.658000	0.05329	0.062000	0.16340	-0.140000	0.14226	CCT		0.378	CMYA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369497.1	NM_153610		4	11	0	0	0	1	0	4	11					T	79028525	C	T	79028525	3	4	230	1	0	0	0	0	1	0	0	0	3590	507	18	3	3943	3	CMYA5	5	79028525	Missense_Mutation	SNP	C	TCGA-HC-8257-01A-11D-2260-08		79028525	101886735	21	10694											
VCAN	1462	broad.mit.edu	37	chr5	82849251	82849251	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acaaatactttgcccatcgaCgcacatgggatgcagctgaa	13	8	9	11	2	0	1	0	1	0	0	1	3	0	2	1	1	4	3	1	1	3	2			TCGA-HC-8257-01A-11D-2260-08	TCGA-HC-8257-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7373089-17c1-4809-b236-dec22225a3f0	1b6bdf28-2065-413f-b851-d6834173d5f0	g.chr5:82849251C>T	ENST00000265077.3	+	11	10127	c.9562C>T	c.(9562-9564)Cgc>Tgc	p.R3188C	VCAN_ENST00000343200.5_Missense_Mutation_p.R2201C|VCAN_ENST00000502527.2_Missense_Mutation_p.R447C|VCAN-AS1_ENST00000513899.1_RNA|VCAN_ENST00000513016.1_3'UTR|VCAN_ENST00000342785.4_Missense_Mutation_p.R1434C|VCAN-AS1_ENST00000512090.1_RNA|VCAN_ENST00000512590.2_Missense_Mutation_p.R1386C	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	3188	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|cell recognition (GO:0008037)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|heart development (GO:0007507)|multicellular organismal development (GO:0007275)|osteoblast differentiation (GO:0001649)|small molecule metabolic process (GO:0044281)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|glycosaminoglycan binding (GO:0005539)|hyaluronic acid binding (GO:0005540)			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	Hyaluronan(DB08818)	TGCCCATCGACGCACATGGGA	0.483																																						ENST00000265077.3																			0				NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190						c.(9562-9564)Cgc>Tgc		versican							156	135	142					5																	82849251		2203	4300	6503	SO:0001583	missense	1462				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding	g.chr5:82849251C>T	X15998	CCDS4060.1, CCDS47242.1, CCDS54875.1, CCDS54876.1	5q14.2-q14.3	2013-05-07	2007-02-15	2007-02-15	ENSG00000038427	ENSG00000038427		"Immunoglobulin superfamily / V-set domain containing", "Proteoglycans / Extracellular Matrix : Hyalectans"	2464	protein-coding gene	gene with protein product	"versican proteoglycan"	118661	"chondroitin sulfate proteoglycan 2"	CSPG2		1478664, 21063030	Standard	NM_004385		Approved	PG-M	uc003kii.3	P13611	OTTHUMG00000131321	ENST00000265077.3:c.9562C>T	5.37:g.82849251C>T	ENSP00000265077:p.Arg3188Cys					VCAN_ENST00000513016.1_3'UTR|VCAN_ENST00000342785.4_Missense_Mutation_p.R1434C|VCAN_ENST00000343200.5_Missense_Mutation_p.R2201C|VCAN-AS1_ENST00000512090.1_RNA|VCAN-AS1_ENST00000513899.1_RNA|VCAN_ENST00000512590.2_Missense_Mutation_p.R1386C|VCAN_ENST00000502527.2_Missense_Mutation_p.R447C	p.R3188C	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	11	10127	+		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)	3188			C-type lectin.		P20754|Q13010|Q13189|Q15123|Q9UCL9|Q9UNW5	Missense_Mutation	SNP	ENST00000265077.3	37	c.9562C>T	CCDS4060.1	.	.	.	.	.	.	.	.	.	.	C	27.3	4.821375	0.90873	.	.	ENSG00000038427	ENST00000265077;ENST00000343200;ENST00000342785;ENST00000512590;ENST00000502527	T;T;T;T;T	0.19806	2.12;2.12;2.12;2.12;2.12	6.06	5.16	0.70880	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	0.000000	0.64402	D	0.000014	T	0.52058	0.1711	M	0.84846	2.72	0.58432	D	0.999999	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;0.966;0.994;1.0	T	0.56860	-0.7909	10	0.87932	D	0	.	16.7717	0.85539	0.1296:0.8704:0.0:0.0	.	1434;447;2201;3188	P13611-3;P13611-4;P13611-2;P13611	.;.;.;CSPG2_HUMAN	C	3188;2201;1434;1386;447	ENSP00000265077:R3188C;ENSP00000340062:R2201C;ENSP00000342768:R1434C;ENSP00000425959:R1386C;ENSP00000421362:R447C	ENSP00000265077:R3188C	R	+	1	0	VCAN	82885007	0.994000	0.37717	0.998000	0.56505	0.996000	0.88848	3.213000	0.51153	2.882000	0.98803	0.655000	0.94253	CGC		0.483	VCAN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254092.3	NM_004385		31	174	0	0	0	1	0	31	174					T	82849251	C	T	82849251	3	4	230	1	0	0	0	0	1	0	0	0	17135	536	19	1	9600	1	VCAN	5	82849251	Missense_Mutation	SNP	C	TCGA-HC-8257-01A-11D-2260-08	3820726	82849251	98066009	22	10695											
ARSK	153642	broad.mit.edu	37	chr5	94927205	94927205	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gccatggaacatcgacagttTtataaaatgagcatgtacga	15	10	9	7	2	0	1	0	1	0	0	1	4	0	2	1	1	3	3	1	1	5	4			TCGA-HC-8257-01A-11D-2260-08	TCGA-HC-8257-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7373089-17c1-4809-b236-dec22225a3f0	1b6bdf28-2065-413f-b851-d6834173d5f0	g.chr5:94927205T>C	ENST00000380009.4	+	6	1177	c.972T>C	c.(970-972)ttT>ttC	p.F324F		NM_198150.2	NP_937793.1	Q6UWY0	ARSK_HUMAN	arylsulfatase family, member K	324					cellular protein metabolic process (GO:0044267)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)			endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|pancreas(1)|skin(1)	16		all_cancers(142;3.38e-06)|all_epithelial(76;6.57e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.00473)		all cancers(79;6.5e-16)		ATCGACAGTTTTATAAAATGA	0.413																																						ENST00000380009.4																			0				endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|pancreas(1)|skin(1)	16						c.(970-972)ttT>ttC		arylsulfatase family, member K							205	211	209					5																	94927205		2203	4300	6503	SO:0001819	synonymous_variant	153642					extracellular region	arylsulfatase activity|metal ion binding	g.chr5:94927205T>C		CCDS4073.1	5q15	2013-02-14	2006-03-07		ENSG00000164291	ENSG00000164291		"Arylsulfatase family"	25239	protein-coding gene	gene with protein product		610011	"arylsulfatase K"			12975309, 16174644	Standard	NM_198150		Approved	DKFZp313G1735, TSULF	uc003kld.3	Q6UWY0	OTTHUMG00000121166	ENST00000380009.4:c.972T>C	5.37:g.94927205T>C							p.F324F	NM_198150.2	NP_937793.1	Q6UWY0	ARSK_HUMAN		all cancers(79;6.5e-16)	6	1177	+		all_cancers(142;3.38e-06)|all_epithelial(76;6.57e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.00473)	324					A2BDE3|B4E1I4|Q3ZCW3|Q8N3Q8	Silent	SNP	ENST00000380009.4	37	c.972T>C	CCDS4073.1																																																																																				0.413	ARSK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241652.2	NM_198150		3	191	0	0	0	1	0	3	191					C	94927205	T	C	94927205	2	2	230	1	0	0	0	0	0	0	0	1	996	1838	64	4		4	ARSK	5	94927205	Silent	SNP	T	TCGA-HC-8257-01A-11D-2260-08	12077954	94927205	85988055	23	10696											
ST8SIA4	7903	broad.mit.edu	37	chr5	100231395	100231395	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agaggaattgattttccaacCttctacattgtgctggaaga	12	13	9	7	0	1	3	0	1	1	2	2	5	2	5	2	2	3	1	2	2	4	6			TCGA-HC-8257-01A-11D-2260-08	TCGA-HC-8257-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7373089-17c1-4809-b236-dec22225a3f0	1b6bdf28-2065-413f-b851-d6834173d5f0	g.chr5:100231395C>G	ENST00000231461.5	-	2	518	c.208G>C	c.(208-210)Ggt>Cgt	p.G70R	ST8SIA4_ENST00000451528.2_Missense_Mutation_p.G70R	NM_005668.4	NP_005659.1	Q92187	SIA8D_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 4	70					axon guidance (GO:0007411)|cellular protein modification process (GO:0006464)|ganglioside biosynthetic process (GO:0001574)|N-glycan processing (GO:0006491)|nervous system development (GO:0007399)|oligosaccharide metabolic process (GO:0009311)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity (GO:0003828)|sialic acid binding (GO:0033691)			NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(11)|lung(7)|stomach(1)|upper_aerodigestive_tract(1)	25		all_cancers(142;1.5e-07)|all_epithelial(76;1.43e-10)|Prostate(80;0.000644)|Lung NSC(167;0.0059)|all_lung(232;0.00914)|Ovarian(225;0.024)|Colorectal(57;0.09)|Breast(839;0.203)		COAD - Colon adenocarcinoma(37;0.00402)		ATTTTCCAACCTTCTACATTG	0.388																																						ENST00000231461.5																			0				NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(11)|lung(7)|stomach(1)|upper_aerodigestive_tract(1)	25						c.(208-210)Ggt>Cgt		ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 4							122	117	119					5																	100231395		2203	4299	6502	SO:0001583	missense	7903				axon guidance|N-glycan processing	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity	g.chr5:100231395C>G	L41680	CCDS4091.1, CCDS47252.1	5q21	2013-03-01	2003-01-14	2005-02-07	ENSG00000113532	ENSG00000113532		"Sialyltransferases"	10871	protein-coding gene	gene with protein product	"ST8Sia IV"	602547	"sialyltransferase 8 (alpha-2, 8-polysialytransferase) D"	SIAT8D		7624364	Standard	NM_005668		Approved	PST, PST1	uc003knk.3	Q92187	OTTHUMG00000128727	ENST00000231461.5:c.208G>C	5.37:g.100231395C>G	ENSP00000231461:p.Gly70Arg					ST8SIA4_ENST00000451528.2_Missense_Mutation_p.G70R	p.G70R	NM_005668.4	NP_005659.1	Q92187	SIA8D_HUMAN		COAD - Colon adenocarcinoma(37;0.00402)	2	518	-		all_cancers(142;1.5e-07)|all_epithelial(76;1.43e-10)|Prostate(80;0.000644)|Lung NSC(167;0.0059)|all_lung(232;0.00914)|Ovarian(225;0.024)|Colorectal(57;0.09)|Breast(839;0.203)	70					A8KA07|G3V104|Q8N1F4|Q92693	Missense_Mutation	SNP	ENST00000231461.5	37	c.208G>C	CCDS4091.1	.	.	.	.	.	.	.	.	.	.	C	17.01	3.280283	0.59758	.	.	ENSG00000113532	ENST00000231461;ENST00000451528	T;T	0.31510	2.27;1.49	5.95	5.95	0.96441	.	0.079395	0.53938	D	0.000046	T	0.26448	0.0646	L	0.29908	0.895	0.58432	D	0.999999	B	0.32968	0.392	B	0.31191	0.125	T	0.02042	-1.1224	10	0.32370	T	0.25	.	19.3629	0.94448	0.0:1.0:0.0:0.0	.	70	Q92187	SIA8D_HUMAN	R	70	ENSP00000231461:G70R;ENSP00000428914:G70R	ENSP00000231461:G70R	G	-	1	0	ST8SIA4	100259294	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.005000	0.57075	2.817000	0.96982	0.563000	0.77884	GGT		0.388	ST8SIA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250632.3	NM_005668		17	42	0	0	0	1	0	17	42					G	100231395	C	G	100231395	3	3	230	1	0	0	0	0	1	0	0	0	15233	681	24	5	891	5	ST8SIA4	5	100231395	Missense_Mutation	SNP	C	TCGA-HC-8257-01A-11D-2260-08	5304190	100231395	80683865	24	10697											
ATXN1	6310	broad.mit.edu	37	chr6	16328224	16328224	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtccctggctgcggggtggcGtacgcggcaggcagcgtggt	3	7	20	11	5	0	0	0	0	0	0	1	0	1	0	1	7	3	4	1	7	1	1			TCGA-HC-8257-01A-11D-2260-08	TCGA-HC-8257-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7373089-17c1-4809-b236-dec22225a3f0	1b6bdf28-2065-413f-b851-d6834173d5f0	g.chr6:16328224G>A	ENST00000244769.4	-	8	1254	c.318C>T	c.(316-318)taC>taT	p.Y106Y	ATXN1_ENST00000436367.1_Silent_p.Y106Y	NM_000332.3	NP_000323.2	P54253	ATX1_HUMAN	ataxin 1	106					adult locomotory behavior (GO:0008344)|cell death (GO:0008219)|negative regulation of insulin-like growth factor receptor signaling pathway (GO:0043569)|negative regulation of phosphorylation (GO:0042326)|negative regulation of transcription, DNA-templated (GO:0045892)|nuclear export (GO:0051168)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|RNA processing (GO:0006396)|transcription, DNA-templated (GO:0006351)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear inclusion body (GO:0042405)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|poly(G) binding (GO:0034046)|poly(U) RNA binding (GO:0008266)|protein C-terminus binding (GO:0008022)|protein self-association (GO:0043621)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|lung(12)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)	44	Breast(50;0.063)|Ovarian(93;0.0733)	all_hematologic(90;0.000682)|Ovarian(999;0.00973)				GCGGGGTGGCGTACGCGGCAG	0.637																																						ENST00000244769.4																			0				NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|lung(12)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)	44						c.(316-318)taC>taT		ataxin 1							58	61	60					6																	16328224		2203	4299	6502	SO:0001819	synonymous_variant	6310				cell death|negative regulation of transcription, DNA-dependent|nuclear export|RNA processing	cytoplasm|nuclear inclusion body|nuclear matrix|nucleoplasm	identical protein binding|poly(G) RNA binding|poly(U) RNA binding|protein binding|protein C-terminus binding|protein self-association	g.chr6:16328224G>A	X79204	CCDS34342.1	6p23	2014-09-17	2004-08-12	2004-08-13	ENSG00000124788	ENSG00000124788		"Ataxins"	10548	protein-coding gene	gene with protein product		601556	"spinocerebellar ataxia 1 (olivopontocerebellar ataxia 1, autosomal dominant, ataxin 1)"	SCA1		1582256	Standard	NM_000332		Approved	D6S504E, ATX1	uc010jpi.3	P54253	OTTHUMG00000014303	ENST00000244769.4:c.318C>T	6.37:g.16328224G>A						ATXN1_ENST00000436367.1_Silent_p.Y106Y	p.Y106Y	NM_000332.3	NP_000323.2	P54253	ATX1_HUMAN			8	1254	-	Breast(50;0.063)|Ovarian(93;0.0733)	all_hematologic(90;0.000682)|Ovarian(999;0.00973)	106					Q17S02|Q9UJG2|Q9Y4J1	Silent	SNP	ENST00000244769.4	37	c.318C>T	CCDS34342.1																																																																																				0.637	ATXN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039943.3	NM_000332		4	82	0	0	0	1	0	4	82					A	16328224	G	A	16328224	2	1	230	1	0	0	0	0	0	0	0	1	1209	1140	40	1		1	ATXN1	6	16328224	Silent	SNP	G	TCGA-HC-8257-01A-11D-2260-08		16328224	154786843	25	10698											
FAM8A1	51439	broad.mit.edu	37	chr6	17608511	17608511	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgctgttttttcagcataatCgaacagcttatgacattgta	11	16	7	7	1	1	1	1	1	0	0	2	2	1	1	0	0	4	5	0	0	4	7	rs200041366		TCGA-HC-8257-01A-11D-2260-08	TCGA-HC-8257-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7373089-17c1-4809-b236-dec22225a3f0	1b6bdf28-2065-413f-b851-d6834173d5f0	g.chr6:17608511C>T	ENST00000259963.3	+	5	1238	c.1183C>T	c.(1183-1185)Cga>Tga	p.R395*		NM_016255.2	NP_057339.1	Q9UBU6	FA8A1_HUMAN	family with sequence similarity 8, member A1	395	RDD.					integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(2)|lung(3)	6	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.143)	all cancers(50;0.176)|Epithelial(50;0.204)			TCAGCATAATCGAACAGCTTA	0.383																																						ENST00000259963.3																			0				endometrium(1)|large_intestine(2)|lung(3)	6						c.(1183-1185)Cga>Tga		family with sequence similarity 8, member A1							109	104	106					6																	17608511		2203	4300	6503	SO:0001587	stop_gained	51439					integral to membrane		g.chr6:17608511C>T	AF097027	CCDS4540.1	6p23	2010-11-22			ENSG00000137414	ENSG00000137414			16372	protein-coding gene	gene with protein product						11707071	Standard	NM_016255		Approved	AHCP	uc003ncc.3	Q9UBU6	OTTHUMG00000014309	ENST00000259963.3:c.1183C>T	6.37:g.17608511C>T	ENSP00000259963:p.Arg395*						p.R395*	NM_016255.2	NP_057339.1	Q9UBU6	FA8A1_HUMAN	all cancers(50;0.176)|Epithelial(50;0.204)		5	1238	+	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.143)	395			RDD.		B2R725	Nonsense_Mutation	SNP	ENST00000259963.3	37	c.1183C>T	CCDS4540.1	.	.	.	.	.	.	.	.	.	.	C	36	5.927702	0.97110	.	.	ENSG00000137414	ENST00000542476;ENST00000259963	.	.	.	5.63	4.76	0.60689	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-3.0172	8.5079	0.33199	0.2528:0.6721:0.0:0.0751	.	.	.	.	X	145;395	.	ENSP00000259963:R395X	R	+	1	2	FAM8A1	17716490	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.235000	0.51328	1.373000	0.46208	0.557000	0.71058	CGA		0.383	FAM8A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039950.1			5	76	0	0	0	1	0	5	76					T	17608511	C	T	17608511	4	4	230	1	0	0	0	0	0	1	0	0	5649	876	31	2	1201	2	FAM8A1	6	17608511	Nonsense_Mutation	SNP	C	TCGA-HC-8257-01A-11D-2260-08	1280287	17608511	153506556	26	10699											
GNL1	2794	broad.mit.edu	37	chr6	30520936	30520936	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgagtccatcctctcccccGcctccgactcttcttcaaga	6	10	5	20	3	4	1	1	0	3	1	8	3	7	1	7	0	0	0	7	0	1	2	rs368925664		TCGA-HC-8257-01A-11D-2260-08	TCGA-HC-8257-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7373089-17c1-4809-b236-dec22225a3f0	1b6bdf28-2065-413f-b851-d6834173d5f0	g.chr6:30520936G>T	ENST00000376621.3	-	7	1799	c.829C>A	c.(829-831)Cgg>Agg	p.R277R		NM_005275.3	NP_005266.2	P36915	GNL1_HUMAN	guanine nucleotide binding protein-like 1	277	CP-type G. {ECO:0000255|PROSITE- ProRule:PRU01058}.				cellular response to DNA damage stimulus (GO:0006974)|GTP catabolic process (GO:0006184)|ribosome biogenesis (GO:0042254)|signal transduction (GO:0007165)|T cell mediated immunity (GO:0002456)	cytosol (GO:0005829)|extracellular space (GO:0005615)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural molecule activity (GO:0005198)			cervix(2)|endometrium(4)|large_intestine(1)|lung(10)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	25						CCTCTCCCCCGCCTCCGACTC	0.602																																						ENST00000376621.3																			0				cervix(2)|endometrium(4)|large_intestine(1)|lung(10)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	25						c.(829-831)Cgg>Agg		guanine nucleotide binding protein-like 1							94	98	97					6																	30520936		2203	4300	6503	SO:0001819	synonymous_variant	2794				response to DNA damage stimulus|signal transduction|T cell mediated immunity	extracellular space|intracellular	GTP binding|structural molecule activity	g.chr6:30520936G>T		CCDS4680.1	6p21.3	2010-02-17			ENSG00000204590	ENSG00000204590			4413	protein-coding gene	gene with protein product		143024				8180467	Standard	NM_005275		Approved	HSR1	uc003nqh.3	P36915	OTTHUMG00000031137	ENST00000376621.3:c.829C>A	6.37:g.30520936G>T							p.R277R	NM_005275.3	NP_005266.2	P36915	GNL1_HUMAN			7	1799	-			277					B0S838|Q96CT5	Silent	SNP	ENST00000376621.3	37	c.829C>A	CCDS4680.1																																																																																				0.602	GNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076241.2			7	150	1	0	0.00307968	1	0.00312074	7	150					T	30520936	G	T	30520936	2	4	230	1	0	0	0	0	0	0	0	1	6535	1086	38	5		5	GNL1	6	30520936	Silent	SNP	G	TCGA-HC-8257-01A-11D-2260-08	12912425	30520936	140594131	27	10700											
RING1	6015	broad.mit.edu	37	chr6	33177793	33177793	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctctaagatctatcctagccGggaggaatacgaggcccatc	11	8	10	12	2	2	1	0	0	2	1	4	4	3	3	3	3	2	0	3	3	5	4			TCGA-HC-8257-01A-11D-2260-08	TCGA-HC-8257-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7373089-17c1-4809-b236-dec22225a3f0	1b6bdf28-2065-413f-b851-d6834173d5f0	g.chr6:33177793G>A	ENST00000374656.4	+	4	549	c.341G>A	c.(340-342)cGg>cAg	p.R114Q	MIR219-1_ENST00000362166.1_RNA|RING1_ENST00000478431.1_3'UTR	NM_002931.3	NP_002922.2	Q06587	RING1_HUMAN	ring finger protein 1	114	Necessary for transcriptional repression. {ECO:0000250}.				anterior/posterior pattern specification (GO:0009952)|camera-type eye morphogenesis (GO:0048593)|histone H2A monoubiquitination (GO:0035518)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)|sex chromatin (GO:0001739)	chromatin binding (GO:0003682)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(5)|large_intestine(1)|lung(3)|ovary(2)|prostate(2)|skin(4)	17						TATCCTAGCCGGGAGGAATAC	0.567																																						ENST00000374656.4																			0				endometrium(5)|large_intestine(1)|lung(3)|ovary(2)|prostate(2)|skin(4)	17						c.(340-342)cGg>cAg		ring finger protein 1							69	61	64					6																	33177793		2203	4300	6503	SO:0001583	missense	6015				histone H2A monoubiquitination|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nuclear speck|PcG protein complex	protein binding|zinc ion binding	g.chr6:33177793G>A		CCDS34424.1	6p21.3	2013-01-09			ENSG00000204227	ENSG00000204227		"RING-type (C3HC4) zinc fingers"	10018	protein-coding gene	gene with protein product		602045				1906426	Standard	NM_002931		Approved	RNF1	uc003odk.3	Q06587	OTTHUMG00000031278	ENST00000374656.4:c.341G>A	6.37:g.33177793G>A	ENSP00000363787:p.Arg114Gln					RING1_ENST00000478431.1_3'UTR	p.R114Q	NM_002931.3	NP_002922.2	Q06587	RING1_HUMAN			4	549	+			114			Necessary for transcriptional repression (By similarity).		A8JZZ0|Q5JP96|Q5SQW2|Q86V19	Missense_Mutation	SNP	ENST00000374656.4	37	c.341G>A	CCDS34424.1	.	.	.	.	.	.	.	.	.	.	G	19.71	3.877968	0.72294	.	.	ENSG00000204227	ENST00000374656	D	0.84660	-1.88	4.23	3.36	0.38483	Zinc finger, RING/FYVE/PHD-type (1);	0.000000	0.64402	D	0.000003	D	0.83440	0.5255	M	0.72894	2.215	0.44668	D	0.997657	D	0.67145	0.996	P	0.55508	0.777	T	0.82157	-0.0596	10	0.37606	T	0.19	-13.4213	9.6244	0.39741	0.1033:0.0:0.8967:0.0	.	114	Q06587	RING1_HUMAN	Q	114	ENSP00000363787:R114Q	ENSP00000363787:R114Q	R	+	2	0	RING1	33285771	1.000000	0.71417	0.987000	0.45799	0.756000	0.42949	9.249000	0.95470	0.990000	0.38787	0.542000	0.68232	CGG		0.567	RING1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076609.2			4	50	0	0	0	1	0	4	50					A	33177793	G	A	33177793	3	1	230	1	0	0	0	0	1	0	0	0	13374	1116	39	2	351	2	RING1	6	33177793	Missense_Mutation	SNP	G	TCGA-HC-8257-01A-11D-2260-08	2656857	33177793	137937274	28	10701											
MTBP	27085	broad.mit.edu	37	chr8	121519023	121519023	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggactcaatcacattgttggAtgctaaagaattgctgaagt	13	12	10	6	0	2	2	2	1	0	1	2	4	2	4	0	2	2	3	0	2	5	4			TCGA-HC-8257-01A-11D-2260-08	TCGA-HC-8257-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7373089-17c1-4809-b236-dec22225a3f0	1b6bdf28-2065-413f-b851-d6834173d5f0	g.chr8:121519023A>T	ENST00000305949.1	+	16	1850	c.1805A>T	c.(1804-1806)gAt>gTt	p.D602V		NM_022045.4	NP_071328.2	Q96DY7	MTBP_HUMAN	MDM2 binding protein	602	Interaction with MDM2. {ECO:0000250}.				cell cycle arrest (GO:0007050)|mitotic spindle checkpoint (GO:0071174)|negative regulation of cell proliferation (GO:0008285)|protein localization to kinetochore (GO:0034501)|traversing start control point of mitotic cell cycle (GO:0007089)	chromatin (GO:0000785)|kinetochore (GO:0000776)				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	30	Lung NSC(37;5.68e-08)|Ovarian(258;0.00769)|all_neural(195;0.0804)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00503)			ACATTGTTGGATGCTAAAGAA	0.398																																						ENST00000305949.1																			0				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	30						c.(1804-1806)gAt>gTt		Mdm2, transformed 3T3 cell double minute 2, p53 binding protein (mouse) binding protein, 104kDa							92	87	89					8																	121519023		2203	4300	6503	SO:0001583	missense	27085				cell cycle arrest			g.chr8:121519023A>T		CCDS6333.1	8q24.1-q24.2	2014-03-03	2014-03-03		ENSG00000172167	ENSG00000172167			7417	protein-coding gene	gene with protein product		605927	"MDM2 (mouse double minute 2)-binding protein, 104kD", "Mdm2, transformed 3T3 cell double minute 2, p53 binding protein (mouse) binding protein, 104kDa"			10906133, 11060448	Standard	NM_022045		Approved		uc003ypc.2	Q96DY7	OTTHUMG00000165040	ENST00000305949.1:c.1805A>T	8.37:g.121519023A>T	ENSP00000303398:p.Asp602Val						p.D602V	NM_022045.3	NP_071328.2	Q96DY7	MTBP_HUMAN	STAD - Stomach adenocarcinoma(47;0.00503)		16	1850	+	Lung NSC(37;5.68e-08)|Ovarian(258;0.00769)|all_neural(195;0.0804)|Hepatocellular(40;0.161)		602			Interaction with MDM2 (By similarity).		B4DUR5|Q9HA89	Missense_Mutation	SNP	ENST00000305949.1	37	c.1805A>T	CCDS6333.1	.	.	.	.	.	.	.	.	.	.	A	16.70	3.195118	0.58017	.	.	ENSG00000172167	ENST00000305949	.	.	.	5.44	5.44	0.79542	.	0.000000	0.85682	D	0.000000	T	0.79003	0.4373	M	0.76328	2.33	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.81876	-0.0731	9	0.87932	D	0	-24.3127	15.4856	0.75564	1.0:0.0:0.0:0.0	.	602	Q96DY7	MTBP_HUMAN	V	602	.	ENSP00000303398:D602V	D	+	2	0	MTBP	121588204	1.000000	0.71417	1.000000	0.80357	0.144000	0.21451	8.345000	0.90057	2.073000	0.62155	0.460000	0.39030	GAT		0.398	MTBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381530.1	NM_022045		18	56	0	0	0	1	0	18	56					T	121519023	A	T	121519023	3	4	230	1	0	0	0	0	1	0	0	0	9912	333	12	5	1867	5	MTBP	8	121519023	Missense_Mutation	SNP	A	TCGA-HC-8257-01A-11D-2260-08		121519023	24844999	29	10702											
TG	7038	broad.mit.edu	37	chr8	134026000	134026000	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aagaggccacccacatctacCggaagccaggtaagcccaag	14	3	10	14	1	1	1	0	0	1	1	1	2	1	2	5	3	3	1	5	3	5	2			TCGA-HC-8257-01A-11D-2260-08	TCGA-HC-8257-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7373089-17c1-4809-b236-dec22225a3f0	1b6bdf28-2065-413f-b851-d6834173d5f0	g.chr8:134026000C>T	ENST00000220616.4	+	37	6593	c.6553C>T	c.(6553-6555)Cgg>Tgg	p.R2185W	TG_ENST00000542445.1_Missense_Mutation_p.R555W|TG_ENST00000522523.1_3'UTR|TG_ENST00000519543.1_Missense_Mutation_p.R318W|TG_ENST00000377869.1_Missense_Mutation_p.R2128W	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	2185					hormone biosynthetic process (GO:0042446)|iodide transport (GO:0015705)|regulation of myelination (GO:0031641)|signal transduction (GO:0007165)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular region (GO:0005576)|extracellular space (GO:0005615)				NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		CCACATCTACCGGAAGCCAGG	0.517																																						ENST00000220616.4																			0				NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168						c.(6553-6555)Cgg>Tgg		thyroglobulin							60	45	50					8																	134026000		2203	4300	6503	SO:0001583	missense	7038				hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity	g.chr8:134026000C>T	AU141420	CCDS34944.1	8q24	2012-10-02			ENSG00000042832	ENSG00000042832			11764	protein-coding gene	gene with protein product		188450					Standard	NM_003235		Approved	TGN, AITD3	uc003ytw.3	P01266	OTTHUMG00000164649	ENST00000220616.4:c.6553C>T	8.37:g.134026000C>T	ENSP00000220616:p.Arg2185Trp					TG_ENST00000522523.1_3'UTR|TG_ENST00000519543.1_Missense_Mutation_p.R318W|TG_ENST00000542445.1_Missense_Mutation_p.R555W|TG_ENST00000377869.1_Missense_Mutation_p.R2128W	p.R2185W	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)	37	6593	+	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	2185					O15274|O43899|Q15593|Q15948|Q9NYR1|Q9NYR2|Q9UMZ0|Q9UNY3	Missense_Mutation	SNP	ENST00000220616.4	37	c.6553C>T	CCDS34944.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.58|17.58	3.425170|3.425170	0.62733|0.62733	.|.	.|.	ENSG00000042832|ENSG00000042832	ENST00000519178|ENST00000377869;ENST00000543313;ENST00000220616;ENST00000542445;ENST00000519543	.|T;T;T;T	.|0.70045	.|-0.23;-0.24;-0.45;-0.43	5.07|5.07	4.14|4.14	0.48551|0.48551	.|.	.|0.000000	.|0.56097	.|D	.|0.000022	T|T	0.78773|0.78773	0.4336|0.4336	M|M	0.74881|0.74881	2.28|2.28	0.27970|0.27970	N|N	0.93643|0.93643	.|D;D;D	.|0.89917	.|1.0;1.0;1.0	.|D;D;D	.|0.70935	.|0.958;0.971;0.928	T|T	0.71639|0.71639	-0.4532|-0.4532	5|10	.|0.72032	.|D	.|0.01	.|.	11.3403|11.3403	0.49529|0.49529	0.1809:0.8191:0.0:0.0|0.1809:0.8191:0.0:0.0	.|.	.|318;555;2185	.|E7EVM0;F5GWW5;P01266	.|.;.;THYG_HUMAN	L|W	640|2128;991;2185;555;318	.|ENSP00000367100:R2128W;ENSP00000220616:R2185W;ENSP00000441693:R555W;ENSP00000430430:R318W	.|ENSP00000220616:R2185W	P|R	+|+	2|1	0|2	TG|TG	134095182|134095182	0.969000|0.969000	0.33509|0.33509	1.000000|1.000000	0.80357|0.80357	0.659000|0.659000	0.38960|0.38960	-0.035000|-0.035000	0.12205|0.12205	2.524000|2.524000	0.85096|0.85096	0.561000|0.561000	0.74099|0.74099	CCG|CGG		0.517	TG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379606.1	NM_003235		6	22	0	0	0	1	0	6	22					T	134026000	C	T	134026000	3	4	230	1	0	0	0	0	1	0	0	0	15810	643	23	2	6699	2	TG	8	134026000	Missense_Mutation	SNP	C	TCGA-HC-8257-01A-11D-2260-08	12506977	134026000	12338022	30	10703											
FKTN	2218	broad.mit.edu	37	chr9	108397472	108397472	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaagacgtgggactggaagcGctctcctcccaatgtgcaac	11	7	11	12	2	1	1	0	0	1	1	3	3	2	3	2	2	3	2	2	2	4	0	rs139291792		TCGA-HC-8257-01A-11D-2260-08	TCGA-HC-8257-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7373089-17c1-4809-b236-dec22225a3f0	1b6bdf28-2065-413f-b851-d6834173d5f0	g.chr9:108397472G>A	ENST00000223528.2	+	10	1437	c.1313G>A	c.(1312-1314)cGc>cAc	p.R438H	FKTN_ENST00000602661.1_Missense_Mutation_p.R438H|FKTN_ENST00000540160.1_3'UTR|FKTN_ENST00000357998.5_Intron|FKTN_ENST00000448551.2_Intron	NM_006731.2	NP_006722.2	O75072	FKTN_HUMAN	fukutin	438					muscle organ development (GO:0007517)|negative regulation of cell proliferation (GO:0008285)|negative regulation of JNK cascade (GO:0046329)|nervous system development (GO:0007399)|regulation of protein glycosylation (GO:0060049)	cis-Golgi network (GO:0005801)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	transferase activity (GO:0016740)			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	25						GACTGGAAGCGCTCTCCTCCC	0.453																																						ENST00000223528.2																			0				breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	25						c.(1312-1314)cGc>cAc		fukutin							177	158	164					9																	108397472		2203	4300	6503	SO:0001583	missense	2218				muscle organ development|negative regulation of cell proliferation|negative regulation of JNK cascade|nervous system development|regulation of protein glycosylation	cis-Golgi network|endoplasmic reticulum|extracellular space|Golgi membrane|integral to membrane|nucleus	transferase activity	g.chr9:108397472G>A		CCDS6766.1	9q31-q33	2014-09-17	2007-11-21	2007-11-21	ENSG00000106692	ENSG00000106692			3622	protein-coding gene	gene with protein product		607440	"Fukuyama type congenital muscular dystrophy (fukutin)"	FCMD		8275093, 17036286, 17044012	Standard	NM_001079802		Approved	LGMD2M	uc004bcs.3	O75072	OTTHUMG00000020425	ENST00000223528.2:c.1313G>A	9.37:g.108397472G>A	ENSP00000223528:p.Arg438His					FKTN_ENST00000448551.2_Intron|FKTN_ENST00000602661.1_Missense_Mutation_p.R438H|FKTN_ENST00000357998.5_Intron|FKTN_ENST00000540160.1_3'UTR	p.R438H	NM_006731.2	NP_006722.2	O75072	FKTN_HUMAN			10	1437	+			438					B4DUX9|J3KP13|Q3MIJ1|Q96TE1|Q9P295	Missense_Mutation	SNP	ENST00000223528.2	37	c.1313G>A	CCDS6766.1	.	.	.	.	.	.	.	.	.	.	G	14.12	2.441701	0.43326	.	.	ENSG00000106692	ENST00000223528	T	0.41758	0.99	6.04	0.409	0.16382	.	0.877645	0.10470	N	0.670928	T	0.24699	0.0599	N	0.08118	0	0.80722	D	1	B	0.21071	0.051	B	0.20184	0.028	T	0.05257	-1.0896	10	0.46703	T	0.11	-15.6612	12.5319	0.56120	0.3653:0.0:0.6347:0.0	.	438	O75072	FKTN_HUMAN	H	438	ENSP00000223528:R438H	ENSP00000223528:R438H	R	+	2	0	FKTN	107437293	0.804000	0.28969	0.993000	0.49108	0.866000	0.49608	-0.023000	0.12456	0.107000	0.17824	-0.471000	0.05019	CGC		0.453	FKTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053505.1	NM_006731		31	53	0	0	0	1	0	31	53					A	108397472	G	A	108397472	3	1	230	1	0	0	0	0	1	0	0	0	5919	1087	38	1	1347	1	FKTN	9	108397472	Missense_Mutation	SNP	G	TCGA-HC-8257-01A-11D-2260-08		108397472	32815959	31	10704											
C9orf84	158401	broad.mit.edu	37	chr9	114468873	114468873	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaactgtgtctggaagaatCactttaaaggccatgtaagg	15	10	10	6	0	2	1	1	0	1	1	2	2	2	2	1	3	1	1	1	3	7	3			TCGA-HC-8257-01A-11D-2260-08	TCGA-HC-8257-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7373089-17c1-4809-b236-dec22225a3f0	1b6bdf28-2065-413f-b851-d6834173d5f0	g.chr9:114468873C>A	ENST00000318737.4	-	18	2648	c.2520G>T	c.(2518-2520)gtG>gtT	p.V840V	C9orf84_ENST00000394777.4_Silent_p.V766V|C9orf84_ENST00000374287.3_Silent_p.V840V|C9orf84_ENST00000394779.3_Silent_p.V801V	NM_173521.3	NP_775792.3	Q5VXU9	CI084_HUMAN	chromosome 9 open reading frame 84	840										breast(1)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(10)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						CTGGAAGAATCACTTTAAAGG	0.299																																						ENST00000394779.3																			0				breast(1)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(10)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						c.(2401-2403)gtG>gtT		chromosome 9 open reading frame 84							104	114	110					9																	114468873		2203	4299	6502	SO:0001819	synonymous_variant	158401							g.chr9:114468873C>A	AL833535	CCDS6781.3, CCDS43863.1	9q32	2012-03-16			ENSG00000165181	ENSG00000165181			26535	protein-coding gene	gene with protein product							Standard	XM_005251738		Approved	FLJ32779	uc004bfr.3	Q5VXU9	OTTHUMG00000020495	ENST00000318737.4:c.2520G>T	9.37:g.114468873C>A						C9orf84_ENST00000374287.3_Silent_p.V840V|C9orf84_ENST00000394777.4_Silent_p.V766V|C9orf84_ENST00000318737.4_Silent_p.V840V	p.V801V	NM_001080551.1	NP_001074020.1	Q5VXU9	CI084_HUMAN			16	2647	-			840					A2A2V3|Q2M1H8|Q96M73	Silent	SNP	ENST00000318737.4	37	c.2403G>T	CCDS6781.3																																																																																				0.299	C9orf84-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053656.2	NM_173521		39	71	1	0	6.68952e-21	1	7.47652e-21	39	71					A	114468873	C	A	114468873	2	1	230	1	0	0	0	0	0	0	0	1	2500	813	29	5		5	C9orf84	9	114468873	Silent	SNP	C	TCGA-HC-8257-01A-11D-2260-08	6071401	114468873	26744558	32	10705											
GAD2	2572	broad.mit.edu	37	chr10	26506583	26506583	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agaagttcacgggcggcatcGgaaacaaactgtgcggtgag	12	6	15	8	4	1	2	1	1	0	1	2	3	1	3	0	4	3	2	0	4	3	1			TCGA-HC-8257-01A-11D-2260-08	TCGA-HC-8257-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7373089-17c1-4809-b236-dec22225a3f0	1b6bdf28-2065-413f-b851-d6834173d5f0	g.chr10:26506583G>A	ENST00000376261.3	+	2	624	c.121G>A	c.(121-123)Gga>Aga	p.G41R	GAD2_ENST00000259271.3_Missense_Mutation_p.G41R|GAD2_ENST00000376248.1_5'Flank	NM_001134366.1	NP_001127838.1	Q05329	DCE2_HUMAN	glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa)	41					glutamate decarboxylation to succinate (GO:0006540)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter secretion (GO:0007269)|response to drug (GO:0042493)|synaptic transmission (GO:0007268)	anchored component of membrane (GO:0031225)|axon (GO:0030424)|cell junction (GO:0030054)|clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane (GO:0061202)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|synaptic vesicle membrane (GO:0030672)	glutamate binding (GO:0016595)|glutamate decarboxylase activity (GO:0004351)|pyridoxal phosphate binding (GO:0030170)			central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(26)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						GGGCGGCATCGGAAACAAACT	0.632																																						ENST00000376261.3																			0				central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(26)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						c.(121-123)Gga>Aga		glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa)	L-Glutamic Acid(DB00142)						49	41	44					10																	26506583		2203	4300	6503	SO:0001583	missense	2572				glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion	cell junction|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|Golgi membrane|presynaptic membrane	glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding	g.chr10:26506583G>A	AJ251501	CCDS7149.1	10p13-p11.2	2003-11-11	2002-08-29		ENSG00000136750	ENSG00000136750	4.1.1.15		4093	protein-coding gene	gene with protein product		138275	"glutamate decarboxylase 2 (pancreatic islets and brain, 65kD)"			2039509	Standard	NM_000818		Approved	GAD65	uc001isp.2	Q05329	OTTHUMG00000017836	ENST00000376261.3:c.121G>A	10.37:g.26506583G>A	ENSP00000365437:p.Gly41Arg					GAD2_ENST00000259271.3_Missense_Mutation_p.G41R	p.G41R	NM_001134366.1	NP_001127838.1	Q05329	DCE2_HUMAN			2	624	+			41					Q9UD87	Missense_Mutation	SNP	ENST00000376261.3	37	c.121G>A	CCDS7149.1	.	.	.	.	.	.	.	.	.	.	G	19.69	3.874150	0.72180	.	.	ENSG00000136750	ENST00000376261;ENST00000259271;ENST00000428517	T;T;T	0.58060	0.36;0.36;0.36	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	T	0.66557	0.2801	M	0.72894	2.215	0.80722	D	1	D;D	0.76494	0.999;0.998	D;D	0.65233	0.929;0.933	T	0.69442	-0.5144	10	0.72032	D	0.01	-17.1906	8.6639	0.34110	0.076:0.0:0.7715:0.1524	.	41;41	Q4G154;Q05329	.;DCE2_HUMAN	R	41	ENSP00000365437:G41R;ENSP00000259271:G41R;ENSP00000390434:G41R	ENSP00000259271:G41R	G	+	1	0	GAD2	26546589	1.000000	0.71417	1.000000	0.80357	0.403000	0.30841	4.882000	0.63121	2.711000	0.92665	0.561000	0.74099	GGA		0.632	GAD2-001	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047255.1	NM_000818		3	27	0	0	0	1	0	3	27					A	26506583	G	A	26506583	3	1	230	1	0	0	0	0	1	0	0	0	6180	1117	39	2	127	2	GAD2	10	26506583	Missense_Mutation	SNP	G	TCGA-HC-8257-01A-11D-2260-08		26506583	109028164	33	10706											
CDH23	64072	broad.mit.edu	37	chr10	73553231	73553231	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aaccccatccagacagtgagCgtgctggagtcggctgagcc	9	6	13	13	2	0	3	0	2	0	1	2	4	1	4	4	2	4	2	4	2	1	0			TCGA-HC-8257-01A-11D-2260-08	TCGA-HC-8257-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7373089-17c1-4809-b236-dec22225a3f0	1b6bdf28-2065-413f-b851-d6834173d5f0	g.chr10:73553231C>T	ENST00000224721.6	+	47	6566	c.6561C>T	c.(6559-6561)agC>agT	p.S2187S	CDH23_ENST00000398788.3_5'Flank	NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	2182	Cadherin 21. {ECO:0000255|PROSITE- ProRule:PRU00043}.			EFLNPIQTVSVLESAEPGTVIANITAIDHDLNPKLEYHIVG IVAKDDTDRLVPNQEDAFAVNIN -> ASWEGQSHVTQAYE EAVGPPQPQVPDSTGDRHPLWGLGGFGQEHPWEGQILGGSS QAEPGLVWS (in Ref. 8; BAB61902). {ECO:0000305}.	calcium ion transport (GO:0006816)|calcium-dependent cell-cell adhesion (GO:0016339)|cytosolic calcium ion homeostasis (GO:0051480)|equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						AGACAGTGAGCGTGCTGGAGT	0.567																																						ENST00000224721.6																			0				NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						c.(6559-6561)agC>agT		cadherin-related 23							68	75	73					10																	73553231		2178	4275	6453	SO:0001819	synonymous_variant	64072				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding	g.chr10:73553231C>T	AY010111	CCDS53540.1, CCDS73146.1	10q22.1	2014-08-08	2010-01-25		ENSG00000107736	ENSG00000107736		"Cadherins / Cadherin-related"	13733	protein-coding gene	gene with protein product	"cadherin-related family member 23"	605516	"cadherin related 23", "cadherin-like 23"	DFNB12, USH1D		11090341	Standard	NM_022124		Approved	CDHR23	uc001jrx.4	Q9H251	OTTHUMG00000019347	ENST00000224721.6:c.6561C>T	10.37:g.73553231C>T							p.S2187S	NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN			47	6566	+			2182	EFLNPIQTVSVLESAEPGTVIANITAIDHDLNPKLEYHIVG IVAKDDTDRLVPNQEDAFAVNIN -> ASWEGQSHVTQAYE EAVGPPQPQVPDSTGDRHPLWGLGGFGQEHPWEGQILGGSS QAEPGLVWS (in Ref. 6; BAB61902).		Cadherin 21.		C4IXS9|F6U049|Q5QGS1|Q5QGS2|Q5QGS5|Q5QGS6|Q5XKN2|Q6UWW1|Q96JL3|Q9H4K9	Silent	SNP	ENST00000224721.6	37	c.6561C>T																																																																																					0.567	CDH23-001	PUTATIVE	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000051227.4	NM_052836		9	124	0	0	0	1	0	9	124					T	73553231	C	T	73553231	2	4	230	1	0	0	0	0	0	0	0	1	3108	767	27	1		1	CDH23	10	73553231	Silent	SNP	C	TCGA-HC-8257-01A-11D-2260-08	47046648	73553231	61981516	34	10707											
DHDPSL	112817	broad.mit.edu	37	chr10	99344570	99344570	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gaagaaggtggacattgcggGtatctacccccctgtgacca	10	8	12	11	1	1	2	0	1	1	1	1	4	1	3	4	3	2	1	4	3	4	3			TCGA-HC-8257-01A-11D-2260-08	TCGA-HC-8257-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7373089-17c1-4809-b236-dec22225a3f0	1b6bdf28-2065-413f-b851-d6834173d5f0	g.chr10:99344570G>C	ENST00000370646.4	+	1	471	c.110G>C	c.(109-111)gGt>gCt	p.G37A	PI4K2A_ENST00000370649.3_Missense_Mutation_p.G37A|HOGA1_ENST00000370647.4_Missense_Mutation_p.G37A|PI4K2A_ENST00000555577.1_Missense_Mutation_p.G37A	NM_138413.3	NP_612422.2	Q86XE5	HOGA1_HUMAN	4-hydroxy-2-oxoglutarate aldolase 1	37					4-hydroxyproline catabolic process (GO:0019470)|glyoxylate catabolic process (GO:0009436)|glyoxylate metabolic process (GO:0046487)|oxalate metabolic process (GO:0033609)|pyruvate biosynthetic process (GO:0042866)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	4-hydroxy-2-oxoglutarate aldolase activity (GO:0008700)|protein homodimerization activity (GO:0042803)	p.G37V(2)		breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|prostate(2)|skin(1)|stomach(1)	14						GACATTGCGGGTATCTACCCC	0.597																																						ENST00000370646.4																			2	Substitution - Missense(2)	p.G37V(2)	prostate(2)	breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|prostate(2)|skin(1)|stomach(1)	14						c.(109-111)gGt>gCt		4-hydroxy-2-oxoglutarate aldolase 1							97	101	99					10																	99344570		2203	4300	6503	SO:0001583	missense	112817							g.chr10:99344570G>C	BC011916	CCDS7467.1, CCDS44469.1	10q24.1	2010-12-19	2010-12-19	2010-12-19	ENSG00000241935	ENSG00000241935			25155	protein-coding gene	gene with protein product	"dihydrodipicolinate synthetase homolog 2 (E. coli)", "N-acetylneuraminate pyruvate lyase 2 (putative)"	613597	"chromosome 10 open reading frame 65", "dihydrodipicolinate synthase-like, mitochondrial"	C10orf65, DHDPSL		20797690	Standard	NM_001134670		Approved	FLJ37472, DHDPS2, NPL2		Q86XE5	OTTHUMG00000018859	ENST00000370646.4:c.110G>C	10.37:g.99344570G>C	ENSP00000359680:p.Gly37Ala					PI4K2A_ENST00000370649.3_Missense_Mutation_p.G37A|PI4K2A_ENST00000555577.1_Missense_Mutation_p.G37A|HOGA1_ENST00000370647.4_Missense_Mutation_p.G37A	p.G37A	NM_138413.3	NP_612422.2					1	471	+								A8K075|Q5T680|Q5T684|Q711P0|Q8N9F2|Q96EV5	Missense_Mutation	SNP	ENST00000370646.4	37	c.110G>C	CCDS7467.1	.	.	.	.	.	.	.	.	.	.	G	15.45	2.836798	0.50951	.	.	ENSG00000241935;ENSG00000241935;ENSG00000155252;ENSG00000249967	ENST00000370647;ENST00000370646;ENST00000555577;ENST00000370649	D;D;D;D	0.99537	-4.24;-6.11;-3.44;-3.44	4.96	4.96	0.65561	Aldolase-type TIM barrel (1);	0.000000	0.85682	D	0.000000	D	0.99760	0.9903	H	0.95780	3.72	0.58432	D	0.999995	D;D;D	0.89917	0.999;0.999;1.0	D;D;D	0.97110	0.981;0.998;1.0	D	0.97155	0.9834	10	0.87932	D	0	-23.801	18.0048	0.89207	0.0:0.0:1.0:0.0	.	37;37;37	E9PAM4;Q86XE5-3;Q86XE5	.;.;HOGA1_HUMAN	A	37	ENSP00000359681:G37A;ENSP00000359680:G37A;ENSP00000452243:G37A;ENSP00000359683:G37A	ENSP00000359680:G37A	G	+	2	0	PI4K2A;HOGA1;RP11-548K23.11	99334560	1.000000	0.71417	0.986000	0.45419	0.490000	0.33462	7.078000	0.76821	2.577000	0.86979	0.655000	0.94253	GGT		0.597	HOGA1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049726.1	NM_138413		11	123	0	0	0	1	0	11	123					C	99344570	G	C	99344570	3	2	230	1	0	0	0	0	1	0	0	0	4480	1261	44	5	112	5	DHDPSL	10	99344570	Missense_Mutation	SNP	G	TCGA-HC-8257-01A-11D-2260-08	25791339	99344570	36190177	35	10708											
DNHD1	144132	broad.mit.edu	37	chr11	6592175	6592175	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agtgctggggccaaatgcacGgcggcctctggagggcgtct	6	7	17	11	3	2	0	0	0	2	0	2	1	2	1	2	6	2	2	2	6	1	0			TCGA-HC-8257-01A-11D-2260-08	TCGA-HC-8257-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7373089-17c1-4809-b236-dec22225a3f0	1b6bdf28-2065-413f-b851-d6834173d5f0	g.chr11:6592175G>A	ENST00000527990.2	+	40	13433	c.13433G>A	c.(13432-13434)cGg>cAg	p.R4478Q	DNHD1_ENST00000254579.6_Missense_Mutation_p.R4478Q			Q96M86	DNHD1_HUMAN	dynein heavy chain domain 1	4478					microtubule-based movement (GO:0007018)	dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)	microtubule motor activity (GO:0003777)	p.R4478Q(1)		NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(13)|kidney(6)|large_intestine(11)|lung(14)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	55		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171)		Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		CCAAATGCACGGCGGCCTCTG	0.612																																						ENST00000254579.6																			1	Substitution - Missense(1)	p.R4478Q(1)	large_intestine(1)	NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(13)|kidney(6)|large_intestine(11)|lung(14)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	55						c.(13432-13434)cGg>cAg		dynein heavy chain domain 1							44	51	48					11																	6592175		2045	4174	6219	SO:0001583	missense	144132				microtubule-based movement	dynein complex	microtubule motor activity	g.chr11:6592175G>A	AK128064	CCDS44532.1, CCDS7767.1	11p15.4	2011-02-10		2005-11-28	ENSG00000179532	ENSG00000179532			26532	protein-coding gene	gene with protein product			"chromosome 11 open reading frame 47", "dynein heavy chain domain 1-like", "coiled-coil domain containing 35"	DHCD1, C11orf47, DNHD1L, CCDC35		12975309	Standard	NM_173589		Approved	FLJ32752, FLJ46184, FLJ35709, DKFZp686J0796	uc001mdw.4	Q96M86	OTTHUMG00000133403	ENST00000527990.2:c.13433G>A	11.37:g.6592175G>A	ENSP00000436180:p.Arg4478Gln					DNHD1_ENST00000527990.2_Missense_Mutation_p.R4478Q	p.R4478Q	NM_144666.2	NP_653267.2	Q96M86	DNHD1_HUMAN		Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)	42	13997	+		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171)	4478					Q2NKK8|Q6UWI9|Q8NAA2|Q8TEE6|Q9NSZ9	Missense_Mutation	SNP	ENST00000527990.2	37	c.13433G>A	CCDS44532.1	.	.	.	.	.	.	.	.	.	.	G	11.11	1.542933	0.27563	.	.	ENSG00000179532	ENST00000254579;ENST00000527990;ENST00000530197	T;T	0.08720	3.06;3.06	4.48	-4.67	0.03319	Dynein heavy chain (1);	1.410220	0.04375	N	0.359794	T	0.05273	0.0140	L	0.41236	1.265	0.09310	N	1	B;B;B	0.17465	0.022;0.022;0.022	B;B;B	0.13407	0.004;0.004;0.009	T	0.40590	-0.9555	10	0.13108	T	0.6	-0.4014	0.1984	0.00142	0.2954:0.2692:0.1814:0.2541	.	3566;531;4478	B0I1S4;Q9NSW8;Q96M86	.;.;DNHD1_HUMAN	Q	4478;4478;746	ENSP00000254579:R4478Q;ENSP00000436180:R4478Q	ENSP00000254579:R4478Q	R	+	2	0	DNHD1	6548751	0.000000	0.05858	0.000000	0.03702	0.142000	0.21351	-1.945000	0.01537	-0.659000	0.05359	0.563000	0.77884	CGG		0.612	DNHD1-007	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384673.2	NM_144666		17	41	0	0	0	1	0	17	41					A	6592175	G	A	6592175	3	1	230	1	0	0	0	0	1	0	0	0	4668	1116	39	2	13600	2	DNHD1	11	6592175	Missense_Mutation	SNP	G	TCGA-HC-8257-01A-11D-2260-08		6592175	128414341	36	10709											
MRGPRX2	117194	broad.mit.edu	37	chr11	19077806	19077806	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aggagccagagcacaaacccGtttcctaccagcccgaccag	12	4	9	16	2	0	1	0	0	0	1	1	3	1	2	6	1	5	2	6	1	2	2			TCGA-HC-8257-01A-11D-2260-08	TCGA-HC-8257-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7373089-17c1-4809-b236-dec22225a3f0	1b6bdf28-2065-413f-b851-d6834173d5f0	g.chr11:19077806G>A	ENST00000329773.2	-	2	231	c.144C>T	c.(142-144)aaC>aaT	p.N48N		NM_054030.2	NP_473371.1	Q96LB1	MRGX2_HUMAN	MAS-related GPR, member X2	48					positive regulation of cytokinesis (GO:0032467)|sensory perception of pain (GO:0019233)|sleep (GO:0030431)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|neuropeptide binding (GO:0042923)			NS(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	15						GCACAAACCCGTTTCCTACCA	0.582																																					GBM(198;1966 2199 4849 37227 49954)	ENST00000329773.2																			0				NS(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	15						c.(142-144)aaC>aaT		MAS-related GPR, member X2							94	101	98					11																	19077806		2199	4293	6492	SO:0001819	synonymous_variant	117194				sensory perception of pain|sleep	plasma membrane	G-protein coupled receptor activity|neuropeptide binding	g.chr11:19077806G>A		CCDS7847.1	11p15.1	2013-10-10			ENSG00000183695	ENSG00000183695		"GPCR / Class A : Orphans"	17983	protein-coding gene	gene with protein product		607228				11551509	Standard	NM_054030		Approved	MRGX2	uc001mph.3	Q96LB1	OTTHUMG00000166098	ENST00000329773.2:c.144C>T	11.37:g.19077806G>A							p.N48N	NM_054030.2	NP_473371.1	Q96LB1	MRGX2_HUMAN			2	231	-			48					B5B0C7|Q4QXW4|Q4QXW7|Q4QXX0|Q4QXX2|Q4QXX3|Q4QXX4|Q4QXX6|Q4QXX7	Silent	SNP	ENST00000329773.2	37	c.144C>T	CCDS7847.1																																																																																				0.582	MRGPRX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387819.1	NM_054030		37	71	0	0	0	1	0	37	71					A	19077806	G	A	19077806	2	1	230	1	0	0	0	0	0	0	0	1	9767	1136	40	1		1	MRGPRX2	11	19077806	Silent	SNP	G	TCGA-HC-8257-01A-11D-2260-08	12485631	19077806	115928710	37	10710											
KIAA0652	9776	broad.mit.edu	37	chr11	46690391	46690391	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gaatctcctctccagggcagCctgcactcagatggctccag	8	8	10	15	0	3	1	1	0	2	1	6	2	4	1	4	2	2	3	4	2	1	0			TCGA-HC-8257-01A-11D-2260-08	TCGA-HC-8257-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7373089-17c1-4809-b236-dec22225a3f0	1b6bdf28-2065-413f-b851-d6834173d5f0	g.chr11:46690391C>T	ENST00000434074.1	+	15	1967	c.1278C>T	c.(1276-1278)agC>agT	p.S426S	ATG13_ENST00000526508.1_Silent_p.S426S|ATG13_ENST00000530500.1_Silent_p.S310S|ATG13_ENST00000312040.4_Silent_p.S426S|ATG13_ENST00000359513.4_Silent_p.S426S|ATG13_ENST00000529655.1_Silent_p.S389S|ATG13_ENST00000524625.1_Silent_p.S389S|ATG13_ENST00000528494.1_Silent_p.S459S|ATG13_ENST00000451945.1_Silent_p.S389S	NM_001205120.1	NP_001192049.1	O75143	ATG13_HUMAN	autophagy related 13	426					autophagic vacuole assembly (GO:0000045)	ATG1/UKL1 signaling complex (GO:0034273)|cytosol (GO:0005829)|pre-autophagosomal structure (GO:0000407)|ULK1-ATG13-FIP200 complex (GO:0070969)	protein kinase binding (GO:0019901)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(5)|prostate(1)|skin(1)	15						TCCAGGGCAGCCTGCACTCAG	0.517																																						ENST00000434074.1																			0				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(5)|prostate(1)|skin(1)	15						c.(1276-1278)agC>agT		autophagy related 13							126	113	117					11																	46690391		2201	4299	6500	SO:0001819	synonymous_variant	9776				autophagic vacuole assembly	cytosol|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex	protein binding	g.chr11:46690391C>T	AB014552	CCDS7921.1, CCDS44582.1, CCDS55760.1, CCDS55761.1	11p11.2	2014-02-12	2012-06-06	2010-06-29	ENSG00000175224	ENSG00000175224			29091	protein-coding gene	gene with protein product		615088	"KIAA0652", "ATG13 autophagy related 13 homolog (S. cerevisiae)"	KIAA0652		15169610, 18339812, 17204848	Standard	NM_001205120		Approved		uc001nda.3	O75143	OTTHUMG00000166538	ENST00000434074.1:c.1278C>T	11.37:g.46690391C>T						ATG13_ENST00000528494.1_Silent_p.S459S|ATG13_ENST00000312040.4_Silent_p.S426S|ATG13_ENST00000359513.4_Silent_p.S426S|ATG13_ENST00000526508.1_Silent_p.S426S|ATG13_ENST00000530500.1_Silent_p.S310S|ATG13_ENST00000529655.1_Silent_p.S389S|ATG13_ENST00000524625.1_Silent_p.S389S|ATG13_ENST00000451945.1_Silent_p.S389S	p.S426S	NM_001205120.1	NP_001192049.1	O75143	ATG13_HUMAN			15	1967	+			426					B4DFI4|D3DQQ1|D3DQQ2|E9PQZ8|Q53EN6|Q9BRL3|Q9H8B0	Silent	SNP	ENST00000434074.1	37	c.1278C>T	CCDS44582.1	.	.	.	.	.	.	.	.	.	.	C	10.06	1.245685	0.22796	.	.	ENSG00000175224	ENST00000395549	.	.	.	5.95	4.07	0.47477	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.8337	0.57761	0.0:0.8668:0.0:0.1332	.	.	.	.	.	-1	.	.	.	+	.	.	ATG13	46646967	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	3.621000	0.54210	0.831000	0.34780	0.655000	0.94253	.		0.517	ATG13-202	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000390300.2	NM_014741		3	38	0	0	0	1	0	3	38					T	46690391	C	T	46690391	2	4	230	1	0	0	0	0	0	0	0	1	8188	738	26	3		3	KIAA0652	11	46690391	Silent	SNP	C	TCGA-HC-8257-01A-11D-2260-08	27612585	46690391	88316125	38	10711											
FNBP4	23360	broad.mit.edu	37	chr11	47744589	47744591	+	In_Frame_Del	DEL	GGA	GGA	-																															ttttgggagctggtggtggtGgaggaggaggaggaggaggt																										TCGA-HC-8257-01A-11D-2260-08	TCGA-HC-8257-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7373089-17c1-4809-b236-dec22225a3f0	1b6bdf28-2065-413f-b851-d6834173d5f0	g.chr11:47744589_47744591delGGA	ENST00000263773.5	-	15	2754_2756	c.2742_2744delTCC	c.(2740-2745)cctcca>cca	p.914_915PP>P		NM_015308.2	NP_056123.2	Q8N3X1	FNBP4_HUMAN	formin binding protein 4	914	Pro-rich.					nucleus (GO:0005634)		p.P914P(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	44						tggtggtggtggaggaggaggag	0.458																																						ENST00000263773.5																			1	Substitution - coding silent(1)	p.P914P(1)	endometrium(1)	NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	44						c.(2740-2745)cca>cc		formin binding protein 4				3,75,3660		0,0,3,5,65,1796						-0.3	0.9			14	11,190,7695		0,0,11,2,186,3749	no	codingComplex	FNBP4	NM_015308.2		0,0,14,7,251,5545	A1A1,A1A2,A1R,A2A2,A2R,RR		2.5456,2.0867,2.3981				14,265,11355				SO:0001651	inframe_deletion	23360							g.chr11:47744589_47744591delGGA	BC037404	CCDS41644.1	11q12.1	2008-02-05			ENSG00000109920	ENSG00000109920			19752	protein-coding gene	gene with protein product		615265				10231032	Standard	NM_015308		Approved	KIAA1014	uc009ylv.3	Q8N3X1	OTTHUMG00000166533	ENST00000263773.5:c.2742_2744delTCC	11.37:g.47744598_47744600delGGA	ENSP00000263773:p.Pro918del						p.PP916del	NM_015308.2	NP_056123.2	Q8N3X1	FNBP4_HUMAN			15	2754_2756	-			916			Pro-rich.		Q9H985|Q9NT81|Q9Y2L7	In_Frame_Del	DEL	ENST00000263773.5	37	c.2742_2744delTCC	CCDS41644.1																																																																																				0.458	FNBP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390237.3			2	4						2	4	---	---	---	---	-	47744591	GGA	-	47744589	7	5	230	1	0	1	0	1	0	0	0	0	5967	1348	47	0	321	0	FNBP4	11	47744589	In_Frame_Del	DEL	GGA	TCGA-HC-8257-01A-11D-2260-08	1054198	47744589	87261927	39	10712											
ARAP1	116985	broad.mit.edu	37	chr11	72420926	72420926	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gagggtcacctgaagatgcgGtagggcgtggtgaggtcgaa	9	7	19	6	3	1	3	1	2	0	1	2	5	1	3	1	5	1	1	1	5	3	1			TCGA-HC-8257-01A-11D-2260-08	TCGA-HC-8257-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7373089-17c1-4809-b236-dec22225a3f0	1b6bdf28-2065-413f-b851-d6834173d5f0	g.chr11:72420926G>A	ENST00000393609.3	-	11	1714	c.1512C>T	c.(1510-1512)taC>taT	p.Y504Y	ARAP1_ENST00000429686.1_Silent_p.Y259Y|ARAP1_ENST00000455638.2_Silent_p.Y504Y|ARAP1_ENST00000334211.8_Silent_p.Y259Y|ARAP1_ENST00000393605.3_Silent_p.Y264Y|ARAP1_ENST00000426523.1_Silent_p.Y259Y|ARAP1_ENST00000359373.5_Silent_p.Y504Y	NM_001040118.2	NP_001035207.1	Q96P48	ARAP1_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1	504	PH 2. {ECO:0000255|PROSITE- ProRule:PRU00145}.				actin filament reorganization involved in cell cycle (GO:0030037)|negative regulation of stress fiber assembly (GO:0051497)|positive regulation of Cdc42 GTPase activity (GO:0043089)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of receptor recycling (GO:0001921)|regulation of ARF GTPase activity (GO:0032312)|regulation of cell shape (GO:0008360)|regulation of cellular component movement (GO:0051270)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|Rho GTPase activator activity (GO:0005100)|zinc ion binding (GO:0008270)			cervix(2)|endometrium(2)|large_intestine(10)|lung(8)|ovary(1)|skin(3)|urinary_tract(1)	27						TGAAGATGCGGTAGGGCGTGG	0.577																																					Ovarian(102;1198 1520 13195 17913 37529)	ENST00000359373.5																			0				cervix(2)|endometrium(2)|large_intestine(10)|lung(8)|ovary(1)|skin(3)|urinary_tract(1)	27						c.(1510-1512)taC>taT		ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1							263	187	213					11																	72420926		2200	4293	6493	SO:0001819	synonymous_variant	116985				actin filament reorganization involved in cell cycle|negative regulation of stress fiber assembly|positive regulation of Cdc42 GTPase activity|positive regulation of filopodium assembly|regulation of ARF GTPase activity|regulation of cell shape|regulation of cellular component movement|small GTPase mediated signal transduction	cytosol|Golgi cisterna membrane|plasma membrane	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|Rho GTPase activator activity|zinc ion binding	g.chr11:72420926G>A	AF411983	CCDS8217.2, CCDS41687.1, CCDS44671.1	11q13.3	2013-01-11	2008-09-22	2008-09-22	ENSG00000186635	ENSG00000186635		"ADP-ribosylation factor GTPase activating proteins", "Sterile alpha motif (SAM) domain containing", "Pleckstrin homology (PH) domain containing", "Ankyrin repeat domain containing"	16925	protein-coding gene	gene with protein product		606646	"centaurin, delta 2"	CENTD2			Standard	NM_001040118		Approved		uc001osu.3	Q96P48	OTTHUMG00000157102	ENST00000393609.3:c.1512C>T	11.37:g.72420926G>A						ARAP1_ENST00000455638.2_Silent_p.Y504Y|ARAP1_ENST00000429686.1_Silent_p.Y259Y|ARAP1_ENST00000426523.1_Silent_p.Y259Y|ARAP1_ENST00000393605.3_Silent_p.Y264Y|ARAP1_ENST00000393609.3_Silent_p.Y504Y|ARAP1_ENST00000334211.8_Silent_p.Y259Y	p.Y504Y			Q96P48	ARAP1_HUMAN			11	2363	-			504			PH 2.		A3KLL7|B2RTS2|O94879|Q4LDD5|Q59FI7|Q6PHS3|Q8WU51|Q96HP6|Q96L71	Silent	SNP	ENST00000393609.3	37	c.1512C>T	CCDS41687.1																																																																																				0.577	ARAP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000347428.1	NM_001040118		4	174	0	0	0	1	0	4	174					A	72420926	G	A	72420926	2	1	230	1	0	0	0	0	0	0	0	1	838	1256	44	3		3	ARAP1	11	72420926	Silent	SNP	G	TCGA-HC-8257-01A-11D-2260-08	24676337	72420926	62585590	40	10713											
MTERFD3	80298	broad.mit.edu	37	chr12	107371603	107371603	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcattctctcttctaaaactGgaacagaataatataaaagg	17	11	6	7	0	3	1	0	0	3	1	4	2	3	2	0	2	2	1	0	2	8	6			TCGA-HC-8257-01A-11D-2260-08	TCGA-HC-8257-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7373089-17c1-4809-b236-dec22225a3f0	1b6bdf28-2065-413f-b851-d6834173d5f0	g.chr12:107371603G>A	ENST00000552029.1	-	2	2958	c.890C>T	c.(889-891)cCa>cTa	p.P297L	MTERFD3_ENST00000392830.2_Missense_Mutation_p.P297L|MTERFD3_ENST00000240050.4_Missense_Mutation_p.P297L|C12orf23_ENST00000551237.1_Intron			Q49AM1	MTEF2_HUMAN		297					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)	transcription regulatory region DNA binding (GO:0044212)			breast(1)|kidney(1)|large_intestine(2)|lung(3)	7						TTCTAAAACTGGAACAGAATA	0.348																																						ENST00000552029.1																			0				breast(1)|kidney(1)|large_intestine(2)|lung(3)	7						c.(889-891)cCa>cTa		MTERF domain containing 3							102	109	107					12																	107371603		2203	4300	6503	SO:0001583	missense	80298				regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrial nucleoid	transcription regulatory region DNA binding	g.chr12:107371603G>A																												ENST00000552029.1:c.890C>T	12.37:g.107371603G>A	ENSP00000447651:p.Pro297Leu					C12orf23_ENST00000551237.1_Intron|MTERFD3_ENST00000240050.4_Missense_Mutation_p.P297L|MTERFD3_ENST00000392830.2_Missense_Mutation_p.P297L	p.P297L			Q49AM1	MTER3_HUMAN			2	2958	-			297					Q53HM2|Q9H4L6|Q9H7Y9	Missense_Mutation	SNP	ENST00000552029.1	37	c.890C>T	CCDS9111.1	.	.	.	.	.	.	.	.	.	.	G	18.56	3.650771	0.67472	.	.	ENSG00000120832	ENST00000392830;ENST00000240050;ENST00000552029	T;T;T	0.10960	2.82;2.82;2.82	5.81	4.9	0.64082	.	0.205994	0.51477	D	0.000081	T	0.18383	0.0441	L	0.56769	1.78	0.58432	D	0.999997	P	0.36683	0.565	B	0.43413	0.419	T	0.01500	-1.1339	10	0.32370	T	0.25	-8.0E-4	16.0208	0.80486	0.0:0.0:0.8645:0.1355	.	297	Q49AM1	MTER3_HUMAN	L	297	ENSP00000376575:P297L;ENSP00000240050:P297L;ENSP00000447651:P297L	ENSP00000240050:P297L	P	-	2	0	MTERFD3	105895733	1.000000	0.71417	0.938000	0.37757	0.982000	0.71751	5.374000	0.66167	1.396000	0.46663	0.460000	0.39030	CCA		0.348	MTERFD3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406835.1			23	49	0	0	0	1	0	23	49					A	107371603	G	A	107371603	3	1	230	1	0	0	0	0	1	0	0	0	9921	1348	47	3	271	3	MTERFD3	12	107371603	Missense_Mutation	SNP	G	TCGA-HC-8257-01A-11D-2260-08		107371603	26480292	41	10714											
KIAA0564	23078	broad.mit.edu	37	chr13	42259307	42259307	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cttttcttctttcctctataGaatgatgtatcagtgccact	8	18	5	10	0	4	2	1	1	3	1	5	2	5	2	2	0	1	1	2	0	4	7			TCGA-HC-8257-01A-11D-2260-08	TCGA-HC-8257-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7373089-17c1-4809-b236-dec22225a3f0	1b6bdf28-2065-413f-b851-d6834173d5f0	g.chr13:42259307G>A	ENST00000379310.3	-	35	4271	c.4203C>T	c.(4201-4203)ttC>ttT	p.F1401F		NM_015058.1	NP_055873.1	A3KMH1	VWA8_HUMAN	von Willebrand factor A domain containing 8	1401						extracellular region (GO:0005576)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)										TTCCTCTATAGAATGATGTAT	0.393																																						ENST00000379310.3																			0											c.(4201-4203)ttC>ttT		von Willebrand factor A domain containing 8							159	141	147					13																	42259307		1845	4088	5933	SO:0001819	synonymous_variant	23078							g.chr13:42259307G>A	AB011136	CCDS31963.1, CCDS41881.1	13q14.11	2013-11-18	2012-08-02	2012-08-02	ENSG00000102763	ENSG00000102763			29071	protein-coding gene	gene with protein product			"KIAA0564"	KIAA0564		9628581	Standard	NM_015058		Approved		uc001uyj.3	A3KMH1	OTTHUMG00000016799	ENST00000379310.3:c.4203C>T	13.37:g.42259307G>A							p.F1401F	NM_015058.1	NP_055873.1					35	4271	-								O60310|Q5JTP6|Q5VW08|Q7Z6I9|Q86YC9|Q8N3E4	Silent	SNP	ENST00000379310.3	37	c.4203C>T	CCDS41881.1																																																																																				0.393	VWA8-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354828.2	NM_015058		7	28	0	0	0	1	0	7	28					A	42259307	G	A	42259307	2	1	230	1	0	0	0	0	0	0	0	1	8185	933	33	3		3	KIAA0564	13	42259307	Silent	SNP	G	TCGA-HC-8257-01A-11D-2260-08		42259307	72910571	42	10715											
KCNRG	283518	broad.mit.edu	37	chr13	50594457	50594457	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttcatttggtcagcactaGaacagtatcttctgaagaca	12	13	7	9	0	4	3	2	1	2	2	4	3	4	3	0	1	2	2	0	1	4	5			TCGA-HC-8257-01A-11D-2260-08	TCGA-HC-8257-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7373089-17c1-4809-b236-dec22225a3f0	1b6bdf28-2065-413f-b851-d6834173d5f0	g.chr13:50594457G>T	ENST00000312942.1	+	2	926	c.686G>T	c.(685-687)aGa>aTa	p.R229I	KCNRG_ENST00000360473.4_3'UTR|TRIM13_ENST00000478111.1_3'UTR	NM_173605.1	NP_775876.1	Q8N5I3	KCNRG_HUMAN	potassium channel regulator	229					protein homooligomerization (GO:0051260)	endoplasmic reticulum (GO:0005783)	identical protein binding (GO:0042802)			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)	9		Acute lymphoblastic leukemia(7;3.41e-06)|Lung NSC(96;3.08e-05)|Breast(56;9.7e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;1.48e-10)|COAD - Colon adenocarcinoma(199;0.204)		GTCAGCACTAGAACAGTATCT	0.388																																						ENST00000312942.1																			0				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)	9						c.(685-687)aGa>aTa		potassium channel regulator							80	76	77					13																	50594457		2203	4300	6503	SO:0001583	missense	0					voltage-gated potassium channel complex	identical protein binding|voltage-gated potassium channel activity	g.chr13:50594457G>T		CCDS9424.1, CCDS41889.1	13q14.11	2008-05-02			ENSG00000198553	ENSG00000198553			18893	protein-coding gene	gene with protein product							Standard	NM_173605		Approved		uc001vdu.3	Q8N5I3	OTTHUMG00000140140	ENST00000312942.1:c.686G>T	13.37:g.50594457G>T	ENSP00000324191:p.Arg229Ile					TRIM13_ENST00000478111.1_3'UTR|KCNRG_ENST00000360473.4_3'UTR	p.R229I	NM_173605.1	NP_775876.1	Q8N5I3	KCNRG_HUMAN		GBM - Glioblastoma multiforme(99;1.48e-10)|COAD - Colon adenocarcinoma(199;0.204)	2	926	+		Acute lymphoblastic leukemia(7;3.41e-06)|Lung NSC(96;3.08e-05)|Breast(56;9.7e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)	229					A2A2X9|Q0P6D0|Q8IU75|Q8N3Q9	Missense_Mutation	SNP	ENST00000312942.1	37	c.686G>T	CCDS9424.1	.	.	.	.	.	.	.	.	.	.	G	25.3	4.626266	0.87560	.	.	ENSG00000198553	ENST00000312942	T	0.63417	-0.04	5.3	4.46	0.54185	.	0.070774	0.53938	D	0.000054	T	0.68430	0.3000	L	0.34521	1.04	0.48696	D	0.999696	D	0.71674	0.998	D	0.66716	0.946	T	0.71695	-0.4515	10	0.72032	D	0.01	.	13.7244	0.62750	0.0741:0.0:0.9259:0.0	.	229	Q8N5I3	KCNRG_HUMAN	I	229	ENSP00000324191:R229I	ENSP00000324191:R229I	R	+	2	0	KCNRG	49492458	1.000000	0.71417	0.980000	0.43619	0.961000	0.63080	5.615000	0.67702	1.249000	0.43950	0.557000	0.71058	AGA		0.388	KCNRG-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276308.1			11	23	1	0	5.01169e-05	1	5.21765e-05	11	23					T	50594457	G	T	50594457	3	4	230	1	0	0	0	0	1	0	0	0	8087	942	33	5	794	5	KCNRG	13	50594457	Missense_Mutation	SNP	G	TCGA-HC-8257-01A-11D-2260-08	8335150	50594457	64575421	43	10716											
ZNF219	51222	broad.mit.edu	37	chr14	21559179	21559179	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gggaaggaggcggtggctccGggggtggcccggggccggcc	3	3	24	11	4	0	0	0	0	0	0	1	2	1	2	4	11	0	1	4	11	1	0			TCGA-HC-8257-01A-11D-2260-08	TCGA-HC-8257-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7373089-17c1-4809-b236-dec22225a3f0	1b6bdf28-2065-413f-b851-d6834173d5f0	g.chr14:21559179G>A	ENST00000360947.3	-	5	2096	c.1685C>T	c.(1684-1686)cCg>cTg	p.P562L	RP11-998D10.7_ENST00000554733.2_lincRNA|ZNF219_ENST00000451119.2_Missense_Mutation_p.P562L|ZNF219_ENST00000556101.1_5'Flank|ZNF219_ENST00000421093.2_Missense_Mutation_p.P562L	NM_016423.2	NP_057507.2	Q9P2Y4	ZN219_HUMAN	zinc finger protein 219	562					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of neurotransmitter levels (GO:0001505)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histamine receptor activity (GO:0004969)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(1)|ovary(1)|prostate(2)	8	all_cancers(95;0.00185)		OV - Ovarian serous cystadenocarcinoma(11;9.86e-11)|Epithelial(56;1.27e-08)|all cancers(55;6.06e-08)	GBM - Glioblastoma multiforme(265;0.0191)		CGGTGGCTCCGGGGGTGGCCC	0.736																																						ENST00000360947.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(1)|ovary(1)|prostate(2)	8						c.(1684-1686)cCg>cTg		zinc finger protein 219							3	4	4					14																	21559179		1918	3832	5750	SO:0001583	missense	0				negative regulation of transcription, DNA-dependent	integral to membrane|nucleus	DNA binding|histamine receptor activity|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr14:21559179G>A	AB015427	CCDS9568.1	14q11	2013-01-08			ENSG00000165804	ENSG00000165804		"Zinc fingers, C2H2-type"	13011	protein-coding gene	gene with protein product		605036				10819330	Standard	NM_016423		Approved		uc001vzs.2	Q9P2Y4	OTTHUMG00000029647	ENST00000360947.3:c.1685C>T	14.37:g.21559179G>A	ENSP00000354206:p.Pro562Leu					RP11-998D10.7_ENST00000554733.2_lincRNA|ZNF219_ENST00000421093.2_Missense_Mutation_p.P562L|ZNF219_ENST00000451119.2_Missense_Mutation_p.P562L	p.P562L	NM_016423.2	NP_057507.2	Q9P2Y4	ZN219_HUMAN	OV - Ovarian serous cystadenocarcinoma(11;9.86e-11)|Epithelial(56;1.27e-08)|all cancers(55;6.06e-08)	GBM - Glioblastoma multiforme(265;0.0191)	5	2096	-	all_cancers(95;0.00185)		562					D3DS16|Q53Y57|Q8IYC1|Q9BW28	Missense_Mutation	SNP	ENST00000360947.3	37	c.1685C>T	CCDS9568.1	.	.	.	.	.	.	.	.	.	.	G	15.45	2.838594	0.51057	.	.	ENSG00000165804	ENST00000360947;ENST00000451119;ENST00000421093	T;T;T	0.08896	3.04;3.04;3.04	4.96	4.01	0.46588	.	0.382752	0.26847	N	0.022189	T	0.04634	0.0126	N	0.24115	0.695	0.50039	D	0.999846	P	0.40107	0.703	B	0.26614	0.071	T	0.51332	-0.8719	10	0.30078	T	0.28	-15.5633	11.7954	0.52098	0.0:0.0:0.8239:0.1761	.	562	Q9P2Y4	ZN219_HUMAN	L	562	ENSP00000354206:P562L;ENSP00000388558:P562L;ENSP00000392401:P562L	ENSP00000354206:P562L	P	-	2	0	ZNF219	20629019	0.977000	0.34250	0.951000	0.38953	0.851000	0.48451	1.837000	0.39201	2.306000	0.77630	0.561000	0.74099	CCG		0.736	ZNF219-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073931.2			7	6	0	0	0	1	0	7	6					A	21559179	G	A	21559179	3	1	230	1	0	0	0	0	1	0	0	0	17770	1116	39	2	487	2	ZNF219	14	21559179	Missense_Mutation	SNP	G	TCGA-HC-8257-01A-11D-2260-08		21559179	85790361	44	10717											
ADCY4	196883	broad.mit.edu	37	chr14	24795366	24795366	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	catctagtccccggggggtaCggctcctgcacagtgagagc	7	7	14	13	2	1	1	0	1	1	1	3	2	3	1	3	4	3	3	3	4	2	2	rs199640938		TCGA-HC-8257-01A-11D-2260-08	TCGA-HC-8257-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7373089-17c1-4809-b236-dec22225a3f0	1b6bdf28-2065-413f-b851-d6834173d5f0	g.chr14:24795366C>T	ENST00000310677.4	-	13	1687	c.1574G>A	c.(1573-1575)cGt>cAt	p.R525H	ADCY4_ENST00000396747.3_Missense_Mutation_p.R218H|ADCY4_ENST00000418030.2_Missense_Mutation_p.R525H|ADCY4_ENST00000554068.2_Missense_Mutation_p.R525H	NM_001198568.1|NM_001198592.1|NM_139247.3	NP_001185497.1|NP_001185521.1|NP_640340.2	Q8NFM4	ADCY4_HUMAN	adenylate cyclase 4	525					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cAMP biosynthetic process (GO:0006171)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(265;0.0192)		CCGGGGGGTACGGCTCCTGCA	0.592																																						ENST00000310677.4																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						c.(1573-1575)cGt>cAt		adenylate cyclase 4							65	62	63					14																	24795366		2203	4300	6503	SO:0001583	missense	196883				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding|protein binding	g.chr14:24795366C>T	AF497516	CCDS9627.1	14q11.2	2013-02-04			ENSG00000129467	ENSG00000129467	4.6.1.1	"Adenylate cyclases"	235	protein-coding gene	gene with protein product		600292				7766992	Standard	NM_001198592		Approved	AC4	uc001woy.3	Q8NFM4	OTTHUMG00000029347	ENST00000310677.4:c.1574G>A	14.37:g.24795366C>T	ENSP00000312126:p.Arg525His					ADCY4_ENST00000418030.2_Missense_Mutation_p.R525H|ADCY4_ENST00000396747.3_Missense_Mutation_p.R218H|ADCY4_ENST00000554068.2_Missense_Mutation_p.R525H	p.R525H	NM_001198568.1|NM_001198592.1|NM_139247.3	NP_001185497.1|NP_001185521.1|NP_640340.2	Q8NFM4	ADCY4_HUMAN		GBM - Glioblastoma multiforme(265;0.0192)	13	1687	-			525					B3KV74|D3DS75|Q17R40|Q6ZTM6|Q96ML7	Missense_Mutation	SNP	ENST00000310677.4	37	c.1574G>A	CCDS9627.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.30|19.30	3.801497|3.801497	0.70682|0.70682	.|.	.|.	ENSG00000129467|ENSG00000129467	ENST00000310677;ENST00000554068;ENST00000418030;ENST00000396747|ENST00000556932	T;T;T;T|.	0.77620|.	-1.11;-1.11;-1.11;-1.11|.	4.58|4.58	4.58|4.58	0.56647|0.56647	.|.	0.188295|.	0.26907|.	N|.	0.021898|.	T|T	0.52709|0.52709	0.1751|0.1751	L|L	0.29908|0.29908	0.895|0.895	0.38500|0.38500	D|D	0.948201|0.948201	B|.	0.09022|.	0.002|.	B|.	0.13407|.	0.009|.	T|T	0.52320|0.52320	-0.8591|-0.8591	10|5	0.56958|.	D|.	0.05|.	.|.	12.7327|12.7327	0.57206|0.57206	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	525|.	Q8NFM4|.	ADCY4_HUMAN|.	H|I	525;525;525;218|98	ENSP00000312126:R525H;ENSP00000452250:R525H;ENSP00000393177:R525H;ENSP00000379971:R218H|.	ENSP00000312126:R525H|.	R|V	-|-	2|1	0|0	ADCY4|ADCY4	23865206|23865206	0.999000|0.999000	0.42202|0.42202	0.997000|0.997000	0.53966|0.53966	0.734000|0.734000	0.41952|0.41952	2.412000|2.412000	0.44609|0.44609	2.393000|2.393000	0.81446|0.81446	0.591000|0.591000	0.81541|0.81541	CGT|GTA		0.592	ADCY4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073200.4			3	47	0	0	0	1	0	3	47					T	24795366	C	T	24795366	3	4	230	1	0	0	0	0	1	0	0	0	296	536	19	1	1715	1	ADCY4	14	24795366	Missense_Mutation	SNP	C	TCGA-HC-8257-01A-11D-2260-08	3236187	24795366	82554174	45	10718											
FLRT2	23768	broad.mit.edu	37	chr14	86089672	86089672	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	catcctggagatgacagaaaCcagttttcagatcgtctcct	11	11	8	11	1	2	4	1	1	1	3	5	5	3	4	3	1	1	1	3	1	1	2			TCGA-HC-8257-01A-11D-2260-08	TCGA-HC-8257-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7373089-17c1-4809-b236-dec22225a3f0	1b6bdf28-2065-413f-b851-d6834173d5f0	g.chr14:86089672C>A	ENST00000330753.4	+	2	2581	c.1814C>A	c.(1813-1815)aCc>aAc	p.T605N	FLRT2_ENST00000554746.1_Missense_Mutation_p.T605N	NM_013231.4	NP_037363.1	O43155	FLRT2_HUMAN	fibronectin leucine rich transmembrane protein 2	605					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|intracellular signal transduction (GO:0035556)|regulation of neuron migration (GO:2001222)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|proteinaceous extracellular matrix (GO:0005578)	chemorepellent activity (GO:0045499)|protein binding, bridging (GO:0030674)|receptor signaling protein activity (GO:0005057)			NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	73				BRCA - Breast invasive adenocarcinoma(234;0.0319)		ATGACAGAAACCAGTTTTCAG	0.473																																						ENST00000330753.4																			0				NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	73						c.(1813-1815)aCc>aAc		fibronectin leucine rich transmembrane protein 2							122	130	127					14																	86089672		2203	4300	6503	SO:0001583	missense	23768				cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity	g.chr14:86089672C>A	AF169676	CCDS9877.1	14q24-q32	2013-02-11				ENSG00000185070		"Fibronectin type III domain containing"	3761	protein-coding gene	gene with protein product		604807				10644439, 16872596	Standard	XM_005267490		Approved		uc001xvr.3	O43155		ENST00000330753.4:c.1814C>A	14.37:g.86089672C>A	ENSP00000332879:p.Thr605Asn					FLRT2_ENST00000554746.1_Missense_Mutation_p.T605N	p.T605N	NM_013231.4	NP_037363.1	O43155	FLRT2_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0319)	2	2581	+			605					A0AV84|B7ZLP3	Missense_Mutation	SNP	ENST00000330753.4	37	c.1814C>A	CCDS9877.1	.	.	.	.	.	.	.	.	.	.	C	17.69	3.452675	0.63290	.	.	ENSG00000185070	ENST00000330753;ENST00000554746;ENST00000535800	T;T	0.58060	0.36;0.36	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.50429	0.1615	L	0.53249	1.67	0.80722	D	1	P	0.37015	0.578	B	0.30782	0.12	T	0.48514	-0.9029	10	0.41790	T	0.15	-22.6859	20.8794	0.99867	0.0:1.0:0.0:0.0	.	605	O43155	FLRT2_HUMAN	N	605;605;258	ENSP00000332879:T605N;ENSP00000451050:T605N	ENSP00000332879:T605N	T	+	2	0	FLRT2	85159425	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.919000	0.70005	2.941000	0.99782	0.655000	0.94253	ACC		0.473	FLRT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413193.1			4	160	1	0	1.23904e-05	1	1.30788e-05	4	160					A	86089672	C	A	86089672	3	1	230	1	0	0	0	0	1	0	0	0	5939	507	18	5	1816	5	FLRT2	14	86089672	Missense_Mutation	SNP	C	TCGA-HC-8257-01A-11D-2260-08	61294306	86089672	21259868	46	10719											
SNRPN	6638	broad.mit.edu	37	chr15	25221557	25221557	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	actgtggaggggccacccccCaaagatgtaaggaagatgta	13	6	13	9	0	0	2	0	0	0	2	0	4	0	4	4	4	0	2	4	4	4	2	rs200650114	byFrequency	TCGA-HC-8257-01A-11D-2260-08	TCGA-HC-8257-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7373089-17c1-4809-b236-dec22225a3f0	1b6bdf28-2065-413f-b851-d6834173d5f0	g.chr15:25221557C>A	ENST00000400100.1	+	9	1151	c.261C>A	c.(259-261)ccC>ccA	p.P87P	SNRPN_ENST00000346403.6_Silent_p.P87P|SNURF_ENST00000338094.6_3'UTR|SNRPN_ENST00000400098.1_Silent_p.P87P|SNRPN_ENST00000577565.1_Silent_p.P87P|SNRPN_ENST00000554227.2_Silent_p.P91P|SNRPN_ENST00000400097.1_Silent_p.P87P|SNRPN_ENST00000390687.4_Silent_p.P87P|SNURF_ENST00000551312.2_Intron|SNRPN_ENST00000444203.2_Silent_p.P91P	NM_022807.2	NP_073718.1	P63162	RSMN_HUMAN	small nuclear ribonucleoprotein polypeptide N	87					response to hormone (GO:0009725)|RNA splicing (GO:0008380)	small nuclear ribonucleoprotein complex (GO:0030532)|spliceosomal complex (GO:0005681)|U1 snRNP (GO:0005685)|U2 snRNP (GO:0005686)	RNA binding (GO:0003723)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(14)|ovary(1)|skin(2)	24		all_cancers(20;9.33e-22)|Breast(32;0.000625)		all cancers(64;3.38e-08)|Epithelial(43;3.45e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000207)|GBM - Glioblastoma multiforme(186;0.125)		GGCCACCCCCCAAAGATGTAA	0.488									Prader-Willi syndrome																													ENST00000444203.2																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(14)|ovary(1)|skin(2)	24						c.(271-273)ccC>ccA		small nuclear ribonucleoprotein polypeptide N							67	72	71					15																	25221557		1924	4132	6056	SO:0001819	synonymous_variant	6638	Prader-Willi syndrome	Familial Cancer Database	Prader-Labhart-Willi syndrome	RNA splicing	small nuclear ribonucleoprotein complex|spliceosomal complex	identical protein binding|RNA binding	g.chr15:25221557C>A	L80005	CCDS10017.1	15q11.2	2013-07-16			ENSG00000128739	ENSG00000128739			11164	protein-coding gene	gene with protein product	"tissue-specific splicing protein", "SM protein N", "small nuclear ribonucleoprotein N"	182279	"Prader-Willi syndrome chromosome region"	PWCR		1533223	Standard	NM_022805		Approved	SMN, SM-D, HCERN3, SNRNP-N, SNURF-SNRPN, RT-LI	uc001ywt.1	P63162	OTTHUMG00000129180	ENST00000400100.1:c.261C>A	15.37:g.25221557C>A						SNRPN_ENST00000554227.2_Silent_p.P91P|SNRPN_ENST00000577565.1_Silent_p.P87P|SNRPN_ENST00000400097.1_Silent_p.P87P|SNRPN_ENST00000390687.4_Silent_p.P87P|SNRPN_ENST00000346403.6_Silent_p.P87P|SNRPN_ENST00000400098.1_Silent_p.P87P|SNURF_ENST00000338094.6_3'UTR|SNRPN_ENST00000400100.1_Silent_p.P87P	p.P91P			P63162	RSMN_HUMAN		all cancers(64;3.38e-08)|Epithelial(43;3.45e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000207)|GBM - Glioblastoma multiforme(186;0.125)	4	1312	+		all_cancers(20;9.33e-22)|Breast(32;0.000625)	87					B3KVR1|P14648|P17135|Q0D2Q5	Silent	SNP	ENST00000400100.1	37	c.273C>A	CCDS10017.1																																																																																				0.488	SNRPN-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413849.10	NM_003097		23	27	1	0	1.10923e-09	1	1.18735e-09	23	27					A	25221557	C	A	25221557	2	1	230	1	0	0	0	0	0	0	0	1	14870	581	21	5		5	SNRPN	15	25221557	Silent	SNP	C	TCGA-HC-8257-01A-11D-2260-08		25221557	77309835	47	10720											
CCNF	899	broad.mit.edu	37	chr16	2506639	2506639	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagtgatgaggaggcttgtcCagaggacaagggaccccagg	11	5	16	9	0	0	3	0	2	0	1	1	6	1	6	3	5	0	1	3	5	1	1			TCGA-HC-8257-01A-11D-2260-08	TCGA-HC-8257-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7373089-17c1-4809-b236-dec22225a3f0	1b6bdf28-2065-413f-b851-d6834173d5f0	g.chr16:2506639C>T	ENST00000397066.4	+	17	2067	c.1979C>T	c.(1978-1980)cCa>cTa	p.P660L	RP11-715J22.4_ENST00000566085.1_lincRNA	NM_001761.2	NP_001752.2	P41002	CCNF_HUMAN	cyclin F	660	PEST.				mitotic nuclear division (GO:0007067)|negative regulation of centrosome duplication (GO:0010826)|placenta development (GO:0001890)|protein ubiquitination (GO:0016567)|re-entry into mitotic cell cycle (GO:0000320)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)	centriole (GO:0005814)|nucleus (GO:0005634)|SCF ubiquitin ligase complex (GO:0019005)				breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(2)|lung(5)|prostate(4)|skin(1)	20		Ovarian(90;0.17)				GAGGCTTGTCCAGAGGACAAG	0.632																																						ENST00000397066.4																			0				breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(2)|lung(5)|prostate(4)|skin(1)	20						c.(1978-1980)cCa>cTa		cyclin F							58	59	59					16																	2506639		2198	4300	6498	SO:0001583	missense	899				cell division|mitosis|negative regulation of centrosome duplication|protein ubiquitination|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	centriole|nucleus|SCF ubiquitin ligase complex	protein binding	g.chr16:2506639C>T	Z36714	CCDS10467.1	16p13.3	2008-02-05			ENSG00000162063	ENSG00000162063		"F-boxes /  "other""	1591	protein-coding gene	gene with protein product		600227				7896286	Standard	NM_001761		Approved	FBX1, FBXO1	uc002cqd.1	P41002	OTTHUMG00000128858	ENST00000397066.4:c.1979C>T	16.37:g.2506639C>T	ENSP00000380256:p.Pro660Leu					RP11-715J22.4_ENST00000566085.1_lincRNA	p.P660L	NM_001761.2	NP_001752.2	P41002	CCNF_HUMAN			17	2067	+		Ovarian(90;0.17)	660			PEST.		B2R8H3|Q96EG9	Missense_Mutation	SNP	ENST00000397066.4	37	c.1979C>T	CCDS10467.1	.	.	.	.	.	.	.	.	.	.	C	3.523	-0.097291	0.07010	.	.	ENSG00000162063	ENST00000397066;ENST00000293968	T	0.20332	2.08	5.3	0.217	0.15264	.	0.700716	0.14362	N	0.324374	T	0.11623	0.0283	L	0.31664	0.95	0.20489	N	0.999892	B	0.02656	0.0	B	0.04013	0.001	T	0.28902	-1.0029	10	0.23891	T	0.37	-3.0874	4.2195	0.10551	0.1607:0.4764:0.0:0.3629	.	660	P41002	CCNF_HUMAN	L	660;575	ENSP00000380256:P660L	ENSP00000293968:P575L	P	+	2	0	CCNF	2446640	0.000000	0.05858	0.206000	0.23566	0.348000	0.29142	0.077000	0.14738	0.161000	0.19458	0.462000	0.41574	CCA		0.632	CCNF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250801.1	NM_001761		5	38	0	0	0	1	0	5	38					T	2506639	C	T	2506639	3	4	230	1	0	0	0	0	1	0	0	0	2922	594	21	3	2045	3	CCNF	16	2506639	Missense_Mutation	SNP	C	TCGA-HC-8257-01A-11D-2260-08		2506639	87848114	48	10721											
C16orf70	80262	broad.mit.edu	37	chr16	67159901	67159901	+	Missense_Mutation	SNP	G	G	T																															tcattcttaacctgactcagGacgggatcaaactaatgttt																										TCGA-HC-8257-01A-11D-2260-08	TCGA-HC-8257-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7373089-17c1-4809-b236-dec22225a3f0	1b6bdf28-2065-413f-b851-d6834173d5f0	g.chr16:67159901G>T	ENST00000219139.3	+	3	375	c.187G>T	c.(187-189)Gac>Tac	p.D63Y	C16orf70_ENST00000569683.1_3'UTR|C16orf70_ENST00000569600.1_Missense_Mutation_p.D63Y	NM_025187.3	NP_079463.2	Q9BSU1	CP070_HUMAN	chromosome 16 open reading frame 70	63										cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(3)|skin(1)	17		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0017)|Epithelial(162;0.00655)|all cancers(182;0.0579)		CCTGACTCAGGACGGGATCAA	0.378																																						ENST00000219139.3																			0				cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(3)|skin(1)	17						c.(187-189)Gac>Tac		chromosome 16 open reading frame 70							163	165	165					16																	67159901		2200	4300	6500	SO:0001583	missense	80262							g.chr16:67159901G>T	AK022138	CCDS10828.1	16q22.1	2011-01-25	2006-04-12	2006-04-12	ENSG00000125149	ENSG00000125149			29564	protein-coding gene	gene with protein product			"chromosome 16 open reading frame 6"	C16orf6, LIN10		12477932	Standard	NM_025187		Approved	lin-10, FLJ12076	uc002erd.3	Q9BSU1	OTTHUMG00000137510	ENST00000219139.3:c.187G>T	16.37:g.67159901G>T	ENSP00000219139:p.Asp63Tyr					C16orf70_ENST00000569600.1_Missense_Mutation_p.D63Y|C16orf70_ENST00000569683.1_3'UTR	p.D63Y	NM_025187.3	NP_079463.2	Q9BSU1	CP070_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0017)|Epithelial(162;0.00655)|all cancers(182;0.0579)	3	375	+		Ovarian(137;0.192)	63					Q9HA86	Missense_Mutation	SNP	ENST00000219139.3	37	c.187G>T	CCDS10828.1	.	.	.	.	.	.	.	.	.	.	G	15.87	2.961476	0.53400	.	.	ENSG00000125149	ENST00000219139	.	.	.	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.78755	0.4333	M	0.75615	2.305	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.72547	-0.4260	9	0.22109	T	0.4	-7.9088	18.3732	0.90420	0.0:0.0:1.0:0.0	.	41;63	Q9BSU1-2;Q9BSU1	.;CP070_HUMAN	Y	63	.	ENSP00000219139:D63Y	D	+	1	0	C16orf70	65717402	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.301000	0.96167	2.941000	0.99782	0.655000	0.94253	GAC		0.378	C16orf70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268829.2	NM_025187		32	81	1	0	1.96642e-18	1	2.13497e-18	32	81					T	67159901	G	T	67159901	3	4	230	1	0	0	0	0	1	0	0	0	1829	1174	41	5	197	5	C16orf70	16	67159901	Missense_Mutation	SNP	G	TCGA-HC-8257-01A-11D-2260-08	64653262	67159901	23194852	49	10722	58	2									
C16orf70	80262	broad.mit.edu	37	chr16	67159903	67159903	+	Silent	SNP	C	C	T																															attcttaacctgactcaggaCgggatcaaactaatgtttga																								rs376996983		TCGA-HC-8257-01A-11D-2260-08	TCGA-HC-8257-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7373089-17c1-4809-b236-dec22225a3f0	1b6bdf28-2065-413f-b851-d6834173d5f0	g.chr16:67159903C>T	ENST00000219139.3	+	3	377	c.189C>T	c.(187-189)gaC>gaT	p.D63D	C16orf70_ENST00000569683.1_3'UTR|C16orf70_ENST00000569600.1_Silent_p.D63D	NM_025187.3	NP_079463.2	Q9BSU1	CP070_HUMAN	chromosome 16 open reading frame 70	63										cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(3)|skin(1)	17		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0017)|Epithelial(162;0.00655)|all cancers(182;0.0579)		TGACTCAGGACGGGATCAAAC	0.378																																						ENST00000219139.3																			0				cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(3)|skin(1)	17						c.(187-189)gaC>gaT		chromosome 16 open reading frame 70		C		2,4398	4.2+/-10.8	0,2,2198	162	164	163		189	0.7	1	16		163	0,8600		0,0,4300	no	coding-synonymous	C16orf70	NM_025187.3		0,2,6498	TT,TC,CC		0.0,0.0455,0.0154		63/423	67159903	2,12998	2200	4300	6500	SO:0001819	synonymous_variant	80262							g.chr16:67159903C>T	AK022138	CCDS10828.1	16q22.1	2011-01-25	2006-04-12	2006-04-12	ENSG00000125149	ENSG00000125149			29564	protein-coding gene	gene with protein product			"chromosome 16 open reading frame 6"	C16orf6, LIN10		12477932	Standard	NM_025187		Approved	lin-10, FLJ12076	uc002erd.3	Q9BSU1	OTTHUMG00000137510	ENST00000219139.3:c.189C>T	16.37:g.67159903C>T						C16orf70_ENST00000569600.1_Silent_p.D63D|C16orf70_ENST00000569683.1_3'UTR	p.D63D	NM_025187.3	NP_079463.2	Q9BSU1	CP070_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0017)|Epithelial(162;0.00655)|all cancers(182;0.0579)	3	377	+		Ovarian(137;0.192)	63					Q9HA86	Silent	SNP	ENST00000219139.3	37	c.189C>T	CCDS10828.1																																																																																				0.378	C16orf70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268829.2	NM_025187		32	80	0	0	0	1	0	32	80					T	67159903	C	T	67159903	2	4	230	1	0	0	0	0	0	0	0	1	1829	535	19	1		1	C16orf70	16	67159903	Silent	SNP	C	TCGA-HC-8257-01A-11D-2260-08	2	67159903	23194850	50	10723	58	2									
DUS2L	54920	broad.mit.edu	37	chr16	68104843	68104843	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	accctctggttgctttttagCggaggatctcatgaccacat	8	13	9	11	1	2	1	1	1	2	0	3	3	2	3	2	3	2	2	2	3	1	4	rs563502920		TCGA-HC-8257-01A-11D-2260-08	TCGA-HC-8257-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7373089-17c1-4809-b236-dec22225a3f0	1b6bdf28-2065-413f-b851-d6834173d5f0	g.chr16:68104843C>T	ENST00000565263.1	+	12	1136	c.642C>T	c.(640-642)aaC>aaT	p.N214N	DUS2_ENST00000432752.1_Splice_Site_p.N179N|DUS2_ENST00000358896.6_Splice_Site_p.N214N	NM_017803.3	NP_060273.1	Q9NX74	DUS2L_HUMAN	dihydrouridine synthase 2	214					negative regulation of cell death (GO:0060548)|negative regulation of protein kinase activity (GO:0006469)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|mitochondrion (GO:0005739)	double-stranded RNA binding (GO:0003725)|flavin adenine dinucleotide binding (GO:0050660)|protein kinase inhibitor activity (GO:0004860)|tRNA dihydrouridine synthase activity (GO:0017150)										TGCTTTTTAGCGGAGGATCTC	0.507													C|||	1	0.000199681	0	0	5008	,	,		19120	0		0.001	False		,,,				2504	0					ENST00000565263.1																			0				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(12)|ovary(1)|skin(1)|stomach(1)	24						c.e12-1									71	66	67					16																	68104843		2198	4300	6498	SO:0001630	splice_region_variant	0				tRNA processing	endoplasmic reticulum	double-stranded RNA binding|flavin adenine dinucleotide binding|tRNA dihydrouridine synthase activity	g.chr16:68104843C>T		CCDS10859.1, CCDS61970.1	16q22.1	2013-07-23	2013-07-23	2013-07-23	ENSG00000167264	ENSG00000167264			26014	protein-coding gene	gene with protein product	"SMM1 homolog (S. cerevisiae)"	609707	"dihydrouridine synthase 2-like (SMM1, S. cerevisiae)", "dihydrouridine synthase 2-like, SMM1 homolog (S. cerevisiae)", "dihydrouridine synthase 2-like"	DUS2L		15994936, 22741570	Standard	NM_017803		Approved	FLJ20399, SMM1	uc002evj.4	Q9NX74	OTTHUMG00000137538	ENST00000565263.1:c.642-1C>T	16.37:g.68104843C>T						DUS2L_ENST00000432752.1_Splice_Site_p.N179_splice|DUS2L_ENST00000358896.6_Splice_Site_p.N214_splice	p.N214_splice	NM_017803.3	NP_060273.1	Q9NX74	DUS2L_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0131)|Epithelial(162;0.0564)	12	1136	+		Ovarian(137;0.192)	214					A8K3G3|Q4H4D9	Splice_Site	SNP	ENST00000565263.1	37	c.641_splice	CCDS10859.1																																																																																				0.507	DUS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268869.2	NM_017803	Silent	17	41	0	0	0	1	0	17	41					T	68104843	C	T	68104843	5	4	230	1	0	0	0	0	0	0	1	0	4806	782	27	1	680	1	DUS2L	16	68104843	Splice_Site	SNP	C	TCGA-HC-8257-01A-11D-2260-08	944940	68104843	22249910	51	10724											
SNAI3	333929	broad.mit.edu	37	chr16	88747582	88747582	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttgcaggtgcagggcagcGtgtgagtgcggatgtgcatc	6	10	17	8	2	1	1	0	1	1	0	2	2	1	2	0	3	5	4	0	3	0	1	rs139790709		TCGA-HC-8257-01A-11D-2260-08	TCGA-HC-8257-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7373089-17c1-4809-b236-dec22225a3f0	1b6bdf28-2065-413f-b851-d6834173d5f0	g.chr16:88747582G>A	ENST00000332281.5	-	2	703	c.617C>T	c.(616-618)aCg>aTg	p.T206M	SNAI3-AS1_ENST00000563261.1_RNA	NM_178310.3	NP_840101.1	Q3KNW1	SNAI3_HUMAN	snail family zinc finger 3	206					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	copper ion binding (GO:0005507)|DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|central_nervous_system(1)|kidney(1)|lung(1)|ovary(1)|skin(1)	6				BRCA - Breast invasive adenocarcinoma(80;0.048)		GCAGGGCAGCGTGTGAGTGCG	0.612																																					Colon(27;366 710 19748 23199 27567)	ENST00000332281.5																			0				NS(1)|central_nervous_system(1)|kidney(1)|lung(1)|ovary(1)|skin(1)	6						c.(616-618)aCg>aTg		snail family zinc finger 3		G	MET/THR	0,4396		0,0,2198	116	102	107		617	4.7	1	16	dbSNP_134	107	1,8599	1.2+/-3.3	0,1,4299	yes	missense	SNAI3	NM_178310.3	81	0,1,6497	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	206/293	88747582	1,12995	2198	4300	6498	SO:0001583	missense	333929				oxidation-reduction process		copper ion binding|DNA binding|zinc ion binding	g.chr16:88747582G>A	BC041461	CCDS32505.1	16q24.3	2013-05-23	2013-05-23			ENSG00000185669		"Snail homologs", "Zinc fingers, C2H2-type"	18411	protein-coding gene	gene with protein product		612741	"zinc finger protein 293", "snail homolog 3 (Drosophila)"	ZNF293		12579345	Standard	NM_178310		Approved	SMUC, Zfp293	uc002flj.3	Q3KNW1		ENST00000332281.5:c.617C>T	16.37:g.88747582G>A	ENSP00000327968:p.Thr206Met					SNAI3-AS1_ENST00000563261.1_RNA	p.T206M	NM_178310.3	NP_840101.1	Q3KNW1	SNAI3_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.048)	2	703	-			206					Q86SU5	Missense_Mutation	SNP	ENST00000332281.5	37	c.617C>T	CCDS32505.1	.	.	.	.	.	.	.	.	.	.	G	25.4	4.635765	0.87760	0.0	1.16E-4	ENSG00000185669	ENST00000332281	T	0.36520	1.25	4.73	4.73	0.59995	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.64182	0.2575	M	0.83603	2.65	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.70999	-0.4719	10	0.87932	D	0	-18.018	16.8282	0.85937	0.0:0.0:1.0:0.0	.	206	Q3KNW1	SNAI3_HUMAN	M	206	ENSP00000327968:T206M	ENSP00000327968:T206M	T	-	2	0	SNAI3	87275083	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	6.235000	0.72332	2.337000	0.79520	0.561000	0.74099	ACG		0.612	SNAI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422582.1			16	168	0	0	0	1	0	16	168					A	88747582	G	A	88747582	3	1	230	1	0	0	0	0	1	0	0	0	14828	1145	40	1	269	1	SNAI3	16	88747582	Missense_Mutation	SNP	G	TCGA-HC-8257-01A-11D-2260-08	20642739	88747582	1607171	52	10725											
ITGAE	3682	broad.mit.edu	37	chr17	3649106	3649106	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcctcacaaagctgggatccGctgctccactccctcaggca	8	8	8	17	1	2	0	2	0	0	0	6	1	6	1	4	2	2	4	4	2	1	0	rs551577998		TCGA-HC-8257-01A-11D-2260-08	TCGA-HC-8257-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7373089-17c1-4809-b236-dec22225a3f0	1b6bdf28-2065-413f-b851-d6834173d5f0	g.chr17:3649106G>A	ENST00000263087.4	-	18	2369	c.2271C>T	c.(2269-2271)agC>agT	p.S757S		NM_002208.4	NP_002199.3	P38570	ITAE_HUMAN	integrin, alpha E (antigen CD103, human mucosal lymphocyte antigen 1; alpha polypeptide)	757					cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)	external side of plasma membrane (GO:0009897)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41				UCEC - Uterine corpus endometrioid carcinoma (3;0.0813)		GCTGGGATCCGCTGCTCCACT	0.557																																					NSCLC(182;635 2928 8995 38788)	ENST00000263087.4																			0				NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41						c.(2269-2271)agC>agT		integrin, alpha E (antigen CD103, human mucosal lymphocyte antigen 1; alpha polypeptide)							111	86	95					17																	3649106		2203	4300	6503	SO:0001819	synonymous_variant	3682				cell adhesion|integrin-mediated signaling pathway	integrin complex	receptor activity	g.chr17:3649106G>A	L25851	CCDS32531.1	17p13	2010-03-23				ENSG00000083457		"CD molecules", "Integrins"	6147	protein-coding gene	gene with protein product		604682				8119947	Standard	NM_002208		Approved	CD103, HUMINAE	uc002fwo.4	P38570		ENST00000263087.4:c.2271C>T	17.37:g.3649106G>A							p.S757S	NM_002208.4	NP_002199.3	P38570	ITAE_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (3;0.0813)	18	2369	-			757					Q17RS6|Q9NZU9	Silent	SNP	ENST00000263087.4	37	c.2271C>T	CCDS32531.1																																																																																				0.557	ITGAE-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438169.1	NM_002208		38	51	0	0	0	1	0	38	51					A	3649106	G	A	3649106	2	1	230	1	0	0	0	0	0	0	0	1	7885	1078	38	1		1	ITGAE	17	3649106	Silent	SNP	G	TCGA-HC-8257-01A-11D-2260-08		3649106	77546104	53	10726											
TMEM102	284114	broad.mit.edu	37	chr17	7340329	7340329	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cggtccgctggcctctgagtCggcttccttctacctggtgc	2	12	12	15	3	2	1	0	1	2	0	5	1	4	1	4	4	2	2	4	4	1	3			TCGA-HC-8257-01A-11D-2260-08	TCGA-HC-8257-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7373089-17c1-4809-b236-dec22225a3f0	1b6bdf28-2065-413f-b851-d6834173d5f0	g.chr17:7340329C>T	ENST00000323206.1	+	3	1304	c.1031C>T	c.(1030-1032)tCg>tTg	p.S344L	RP11-104H15.10_ENST00000575331.1_RNA|FGF11_ENST00000575235.1_5'Flank|RP11-104H15.9_ENST00000570444.1_RNA|FGF11_ENST00000572907.1_5'Flank|TMEM102_ENST00000396568.1_Missense_Mutation_p.S344L|RP11-104H15.8_ENST00000576615.1_RNA|FGF11_ENST00000293829.4_5'Flank|RP11-104H15.7_ENST00000575310.1_RNA	NM_178518.2	NP_848613.1	Q8N9M5	TM102_HUMAN	transmembrane protein 102	344					apoptotic process (GO:0006915)|positive regulation of cell adhesion (GO:0045785)|positive regulation of T cell chemotaxis (GO:0010820)|positive regulation of T cell migration (GO:2000406)|regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway (GO:1901028)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to cytokine (GO:0034097)|signal transduction (GO:0007165)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|protein complex (GO:0043234)				kidney(1)|lung(3)|skin(1)	5		Prostate(122;0.173)				GCCTCTGAGTCGGCTTCCTTC	0.726																																						ENST00000323206.1																			0				kidney(1)|lung(3)|skin(1)	5						c.(1030-1032)tCg>tTg		transmembrane protein 102							6	8	7					17																	7340329		1721	3555	5276	SO:0001583	missense	284114				regulation of apoptosis|response to cytokine stimulus|signal transduction	cell surface|integral to membrane|intracellular	protein binding	g.chr17:7340329C>T	AK094197	CCDS11104.1	17p13.1	2008-04-21			ENSG00000181284	ENSG00000181284			26722	protein-coding gene	gene with protein product		613936				12477932	Standard	NM_178518		Approved	FLJ36878	uc002ggx.1	Q8N9M5	OTTHUMG00000132901	ENST00000323206.1:c.1031C>T	17.37:g.7340329C>T	ENSP00000315387:p.Ser344Leu					RP11-104H15.7_ENST00000575310.1_RNA|RP11-104H15.9_ENST00000570444.1_RNA|TMEM102_ENST00000396568.1_Missense_Mutation_p.S344L	p.S344L	NM_178518.2	NP_848613.1	Q8N9M5	TM102_HUMAN			3	1304	+		Prostate(122;0.173)	344					D3DTP8	Missense_Mutation	SNP	ENST00000323206.1	37	c.1031C>T	CCDS11104.1	.	.	.	.	.	.	.	.	.	.	C	16.13	3.036061	0.54896	.	.	ENSG00000181284	ENST00000323206;ENST00000396568	T;T	0.09445	2.98;2.98	5.18	5.18	0.71444	.	0.167110	0.28841	N	0.013967	T	0.07818	0.0196	N	0.22421	0.69	0.37717	D	0.924783	P	0.40144	0.704	B	0.32677	0.15	T	0.24548	-1.0157	10	0.56958	D	0.05	-18.2653	14.1772	0.65549	0.0:1.0:0.0:0.0	.	344	Q8N9M5	TM102_HUMAN	L	344	ENSP00000315387:S344L;ENSP00000379815:S344L	ENSP00000315387:S344L	S	+	2	0	TMEM102	7281053	0.983000	0.35010	0.439000	0.26833	0.153000	0.21895	2.838000	0.48199	2.412000	0.81896	0.462000	0.41574	TCG		0.726	TMEM102-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256405.1	NM_178518		6	6	0	0	0	1	0	6	6					T	7340329	C	T	7340329	3	4	230	1	0	0	0	0	1	0	0	0	16014	893	31	2	1037	2	TMEM102	17	7340329	Missense_Mutation	SNP	C	TCGA-HC-8257-01A-11D-2260-08	3691223	7340329	73854881	54	10727											
STAC2	342667	broad.mit.edu	37	chr17	37369333	37369333	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaacattctcgcctggcctcAcccgttgcacaaaattagct	11	10	6	14	2	2	0	1	0	1	0	3	0	2	0	3	1	3	3	3	1	4	3			TCGA-HC-8257-01A-11D-2260-08	TCGA-HC-8257-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7373089-17c1-4809-b236-dec22225a3f0	1b6bdf28-2065-413f-b851-d6834173d5f0	g.chr17:37369333A>T	ENST00000333461.5	-	10	1415	c.1046T>A	c.(1045-1047)gTg>gAg	p.V349E		NM_198993.3	NP_945344.1	Q6ZMT1	STAC2_HUMAN	SH3 and cysteine rich domain 2	349	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				intracellular signal transduction (GO:0035556)		metal ion binding (GO:0046872)			NS(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|skin(2)	17						GCCTGGCCTCACCCGTTGCAC	0.602																																						ENST00000333461.5																			0				NS(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|skin(2)	17						c.(1045-1047)gTg>gAg		SH3 and cysteine rich domain 2							63	64	64					17																	37369333		2203	4300	6503	SO:0001583	missense	342667				intracellular signal transduction		metal ion binding	g.chr17:37369333A>T	AJ608762	CCDS11335.1	17q21.2	2012-11-19			ENSG00000141750	ENSG00000141750			23990	protein-coding gene	gene with protein product							Standard	NM_198993		Approved	24b2	uc002hrs.3	Q6ZMT1	OTTHUMG00000179039	ENST00000333461.5:c.1046T>A	17.37:g.37369333A>T	ENSP00000327509:p.Val349Glu						p.V349E	NM_198993.3	NP_945344.1	Q6ZMT1	STAC2_HUMAN			10	1415	-			349			SH3.		Q32MA3	Missense_Mutation	SNP	ENST00000333461.5	37	c.1046T>A	CCDS11335.1	.	.	.	.	.	.	.	.	.	.	a	15.50	2.853190	0.51270	.	.	ENSG00000141750	ENST00000333461	D	0.83335	-1.71	5.15	4.07	0.47477	Src homology-3 domain (4);	0.128315	0.51477	D	0.000088	D	0.89694	0.6789	M	0.76838	2.35	0.53688	D	0.999976	D	0.76494	0.999	D	0.83275	0.996	D	0.89320	0.3639	10	0.87932	D	0	-0.4801	9.9201	0.41459	0.9177:0.0:0.0823:0.0	.	349	Q6ZMT1	STAC2_HUMAN	E	349	ENSP00000327509:V349E	ENSP00000327509:V349E	V	-	2	0	STAC2	34622859	1.000000	0.71417	1.000000	0.80357	0.099000	0.18886	8.119000	0.89579	0.813000	0.34350	-0.464000	0.05259	GTG		0.602	STAC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444533.2	NM_198993		4	85	0	0	0	1	0	4	85					T	37369333	A	T	37369333	3	4	230	1	0	0	0	0	1	0	0	0	15239	159	6	5	197	5	STAC2	17	37369333	Missense_Mutation	SNP	A	TCGA-HC-8257-01A-11D-2260-08	30029004	37369333	43825877	55	10728											
JUP	3728	broad.mit.edu	37	chr17	39914695	39914695	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gagccggaagatctccatgcGgttcatggggtcccgggcga	7	7	16	11	4	2	1	1	0	1	1	4	4	3	2	3	5	2	1	3	5	1	1			TCGA-HC-8257-01A-11D-2260-08	TCGA-HC-8257-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7373089-17c1-4809-b236-dec22225a3f0	1b6bdf28-2065-413f-b851-d6834173d5f0	g.chr17:39914695G>A	ENST00000393931.3	-	10	1847	c.1729C>T	c.(1729-1731)Cgc>Tgc	p.R577C	JUP_ENST00000310706.5_Missense_Mutation_p.R577C|JUP_ENST00000540235.1_Intron|JUP_ENST00000393930.1_Missense_Mutation_p.R577C	NM_002230.2	NP_002221.1	P14923	PLAK_HUMAN	junction plakoglobin	577	Interaction with DSC1.				adherens junction organization (GO:0034332)|atrioventricular valve morphogenesis (GO:0003181)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cell junction assembly (GO:0034329)|cell migration (GO:0016477)|cell morphogenesis (GO:0000902)|cell-cell junction organization (GO:0045216)|cellular response to indole-3-methanol (GO:0071681)|cytoskeletal anchoring at plasma membrane (GO:0007016)|desmosome assembly (GO:0002159)|detection of mechanical stimulus (GO:0050982)|ectoderm development (GO:0007398)|endothelial cell-cell adhesion (GO:0071603)|establishment of protein localization to plasma membrane (GO:0090002)|gastrulation (GO:0007369)|morphogenesis of embryonic epithelium (GO:0016331)|negative regulation of heart induction by canonical Wnt signaling pathway (GO:0003136)|negative regulation of Wnt signaling pathway involved in heart development (GO:0003308)|nervous system development (GO:0007399)|oocyte development (GO:0048599)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein heterooligomerization (GO:0051291)|regulation of cell proliferation (GO:0042127)|regulation of heart rate by cardiac conduction (GO:0086091)|single organismal cell-cell adhesion (GO:0016337)|skin development (GO:0043588)|ventricular cardiac muscle cell action potential (GO:0086005)	actin cytoskeleton (GO:0015629)|apicolateral plasma membrane (GO:0016327)|basolateral plasma membrane (GO:0016323)|catenin complex (GO:0016342)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|gamma-catenin-TCF7L2 complex (GO:0071665)|intercalated disc (GO:0014704)|intermediate filament (GO:0005882)|lateral plasma membrane (GO:0016328)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein-DNA complex (GO:0032993)|Z disc (GO:0030018)|zonula adherens (GO:0005915)	alpha-catenin binding (GO:0045294)|cadherin binding (GO:0045296)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|structural constituent of cell wall (GO:0005199)|structural molecule activity (GO:0005198)|transcription coactivator activity (GO:0003713)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)	23		Breast(137;0.000162)	BRCA - Breast invasive adenocarcinoma(4;0.233)	BRCA - Breast invasive adenocarcinoma(366;0.15)		ATCTCCATGCGGTTCATGGGG	0.617																																					Colon(16;42 520 6044 17852 28530)	ENST00000393931.3																			0				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)	23						c.(1729-1731)Cgc>Tgc		junction plakoglobin							88	69	75					17																	39914695		2203	4300	6503	SO:0001583	missense	3728				adherens junction organization|atrioventricular valve morphogenesis|cell migration|cell morphogenesis|cellular response to indole-3-methanol|cytoskeletal anchoring at plasma membrane|detection of mechanical stimulus|ectoderm development|endothelial cell-cell adhesion|gastrulation|morphogenesis of embryonic epithelium|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of Wnt receptor signaling pathway involved in heart development|nervous system development|oocyte development|positive regulation of protein import into nucleus|positive regulation of sequence-specific DNA binding transcription factor activity|skin development	actin cytoskeleton|Axin-APC-beta-catenin-GSK3B complex|basolateral plasma membrane|catenin complex|desmosome|fascia adherens|gamma-catenin-TCF7L2 complex|internal side of plasma membrane|nucleus|protein-DNA complex|Z disc|zonula adherens	alpha-catenin binding|cadherin binding|protein homodimerization activity|protein kinase binding|protein phosphatase binding|RPTP-like protein binding|specific RNA polymerase II transcription factor activity|transcription coactivator activity	g.chr17:39914695G>A	AF233882	CCDS11407.1	17q21	2014-09-17	2004-08-09		ENSG00000173801	ENSG00000173801		"Armadillo repeat containing"	6207	protein-coding gene	gene with protein product		173325	"catenin (cadherin-associated protein), gamma 80kDa"	CTNNG		1889810, 7604000	Standard	NM_021991		Approved	DP3, PDGB, PKGB, DPIII	uc002hxs.2	P14923	OTTHUMG00000133494	ENST00000393931.3:c.1729C>T	17.37:g.39914695G>A	ENSP00000377508:p.Arg577Cys					JUP_ENST00000310706.5_Missense_Mutation_p.R577C|JUP_ENST00000393930.1_Missense_Mutation_p.R577C|JUP_ENST00000540235.1_Intron	p.R577C	NM_002230.2	NP_002221.1	P14923	PLAK_HUMAN	BRCA - Breast invasive adenocarcinoma(4;0.233)	BRCA - Breast invasive adenocarcinoma(366;0.15)	10	1847	-		Breast(137;0.000162)	577					Q15093|Q15151|Q7L3S5|Q86W21|Q9BWC4|Q9HCX9	Missense_Mutation	SNP	ENST00000393931.3	37	c.1729C>T	CCDS11407.1	.	.	.	.	.	.	.	.	.	.	G	23.3	4.394003	0.83011	.	.	ENSG00000173801	ENST00000393930;ENST00000310706;ENST00000393931	T;T;T	0.71817	-0.6;-0.6;-0.6	5.41	4.42	0.53409	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.82185	0.4982	M	0.65677	2.01	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.84567	0.0653	10	0.87932	D	0	-33.3945	14.6042	0.68466	0.0:0.0:0.8531:0.1469	.	577	P14923	PLAK_HUMAN	C	577	ENSP00000377507:R577C;ENSP00000311113:R577C;ENSP00000377508:R577C	ENSP00000311113:R577C	R	-	1	0	JUP	37168221	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.534000	0.60622	1.482000	0.48325	0.561000	0.74099	CGC		0.617	JUP-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257406.1			4	116	0	0	0	1	0	4	116					A	39914695	G	A	39914695	3	1	230	1	0	0	0	0	1	0	0	0	7972	1116	39	2	528	2	JUP	17	39914695	Missense_Mutation	SNP	G	TCGA-HC-8257-01A-11D-2260-08	2545362	39914695	41280515	56	10729											
EPX	8288	broad.mit.edu	37	chr17	56274484	56274484	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gctgcggctccgcaaccggaCcaactacctggggctgctgg	6	6	14	15	3	0	0	0	0	0	0	1	1	1	1	4	5	5	5	4	5	3	1			TCGA-HC-8257-01A-11D-2260-08	TCGA-HC-8257-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7373089-17c1-4809-b236-dec22225a3f0	1b6bdf28-2065-413f-b851-d6834173d5f0	g.chr17:56274484C>T	ENST00000225371.5	+	7	1096	c.986C>T	c.(985-987)aCc>aTc	p.T329I		NM_000502.4	NP_000493.1	P11678	PERE_HUMAN	eosinophil peroxidase	329					defense response to nematode (GO:0002215)|eosinophil migration (GO:0072677)|hydrogen peroxide catabolic process (GO:0042744)|negative regulation of interleukin-10 production (GO:0032693)|negative regulation of interleukin-5 production (GO:0032714)|positive regulation of interleukin-4 production (GO:0032753)	extracellular vesicular exosome (GO:0070062)	heme binding (GO:0020037)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)			breast(2)|endometrium(9)|kidney(1)|large_intestine(9)|liver(2)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	48					Melatonin(DB01065)	CGCAACCGGACCAACTACCTG	0.622																																						ENST00000225371.5																			0				breast(2)|endometrium(9)|kidney(1)|large_intestine(9)|liver(2)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	48						c.(985-987)aCc>aTc		eosinophil peroxidase							114	108	110					17																	56274484		2203	4300	6503	SO:0001583	missense	8288				hydrogen peroxide catabolic process		heme binding|peroxidase activity|protein binding	g.chr17:56274484C>T	M26515	CCDS11602.1	17q23.1	2006-09-25				ENSG00000121053	1.11.1.7		3423	protein-coding gene	gene with protein product		131399				2550461, 2541222	Standard	NM_000502		Approved	EPO, EPP, EPX-PEN	uc002ivq.3	P11678		ENST00000225371.5:c.986C>T	17.37:g.56274484C>T	ENSP00000225371:p.Thr329Ile						p.T329I	NM_000502.4	NP_000493.1	P11678	PERE_HUMAN			7	1096	+			329					Q4TVP3	Missense_Mutation	SNP	ENST00000225371.5	37	c.986C>T	CCDS11602.1	.	.	.	.	.	.	.	.	.	.	C	13.46	2.244859	0.39697	.	.	ENSG00000121053	ENST00000225371	T	0.73897	-0.79	4.86	4.86	0.63082	.	0.207707	0.51477	D	0.000086	D	0.83746	0.5321	M	0.68952	2.095	0.44685	D	0.997676	D	0.61697	0.99	D	0.65140	0.932	D	0.85825	0.1388	10	0.87932	D	0	-44.2663	15.8515	0.78934	0.0:1.0:0.0:0.0	.	329	P11678	PERE_HUMAN	I	329	ENSP00000225371:T329I	ENSP00000225371:T329I	T	+	2	0	EPX	53629483	0.395000	0.25254	0.996000	0.52242	0.059000	0.15707	1.995000	0.40767	2.408000	0.81797	0.462000	0.41574	ACC		0.622	EPX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443367.1	NM_000502		51	87	0	0	0	1	0	51	87					T	56274484	C	T	56274484	3	4	230	1	0	0	0	0	1	0	0	0	5200	507	18	3	1012	3	EPX	17	56274484	Missense_Mutation	SNP	C	TCGA-HC-8257-01A-11D-2260-08	16359789	56274484	24920726	57	10730											
C17orf70	80233	broad.mit.edu	37	chr17	79514376	79514376	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggggtagcgtcacctcccGccgagcaccggggccgagct	6	4	15	16	5	1	0	1	0	0	0	2	2	2	0	5	4	3	3	5	4	1	1			TCGA-HC-8257-01A-11D-2260-08	TCGA-HC-8257-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7373089-17c1-4809-b236-dec22225a3f0	1b6bdf28-2065-413f-b851-d6834173d5f0	g.chr17:79514376G>A	ENST00000327787.8	-	5	1778	c.1732C>T	c.(1732-1734)Cgg>Tgg	p.R578W	C17orf70_ENST00000425898.2_Missense_Mutation_p.R227W|C17orf70_ENST00000537152.1_Missense_Mutation_p.R427W			Q0VG06	FP100_HUMAN	chromosome 17 open reading frame 70	578					DNA repair (GO:0006281)	cytoplasm (GO:0005737)|Fanconi anaemia nuclear complex (GO:0043240)|intermediate filament cytoskeleton (GO:0045111)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|central_nervous_system(1)|endometrium(1)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	19	all_neural(118;0.0878)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0371)			GTCACCTCCCGCCGAGCACCG	0.682																																						ENST00000537152.1																			0				breast(1)|central_nervous_system(1)|endometrium(1)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	19						c.(1279-1281)Cgg>Tgg		chromosome 17 open reading frame 70							38	38	38					17																	79514376		2202	4291	6493	SO:0001583	missense	80233				DNA repair	cytoplasm|intermediate filament cytoskeleton|nucleoplasm	DNA binding	g.chr17:79514376G>A	BC008883	CCDS32765.1, CCDS32765.2	17q25.3	2012-05-30			ENSG00000185504	ENSG00000185504			26171	protein-coding gene	gene with protein product	"Fanconi anemia-associated protein, 100kDa"	611301				17396147	Standard	NM_025161		Approved	FLJ22175, FAAP100	uc002kaq.3	Q0VG06	OTTHUMG00000167764	ENST00000327787.8:c.1732C>T	17.37:g.79514376G>A	ENSP00000333283:p.Arg578Trp					C17orf70_ENST00000327787.8_Missense_Mutation_p.R578W|C17orf70_ENST00000425898.2_Missense_Mutation_p.R227W	p.R427W	NM_025161.5	NP_079437.5	Q0VG06	FP100_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0371)		5	1804	-	all_neural(118;0.0878)|Melanoma(429;0.242)		578					A6NNM1|Q8N3F7|Q9BV13|Q9H6K7|Q9H7E8	Missense_Mutation	SNP	ENST00000327787.8	37	c.1279C>T	CCDS32765.2	.	.	.	.	.	.	.	.	.	.	G	13.19	2.163019	0.38217	.	.	ENSG00000185504	ENST00000327787;ENST00000425898;ENST00000537152	T;T;T	0.34667	1.35;1.35;1.35	4.49	2.35	0.29111	.	0.179092	0.33591	N	0.004752	T	0.47893	0.1470	M	0.63428	1.95	0.09310	N	1	D;D	0.76494	0.999;0.999	D;D	0.66196	0.942;0.942	T	0.21861	-1.0233	10	0.66056	D	0.02	.	5.286	0.15702	0.1065:0.0:0.5421:0.3514	.	578;227	Q0VG06;E7EVV8	FP100_HUMAN;.	W	578;227;427	ENSP00000333283:R578W;ENSP00000399674:R227W;ENSP00000440151:R427W	ENSP00000333283:R578W	R	-	1	2	C17orf70	77124829	0.000000	0.05858	0.260000	0.24451	0.204000	0.24138	-0.046000	0.11983	1.119000	0.41883	0.561000	0.74099	CGG		0.682	C17orf70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396170.1	NM_025161		3	76	0	0	0	1	0	3	76					A	79514376	G	A	79514376	3	1	230	1	0	0	0	0	1	0	0	0	1877	1086	38	1	933	1	C17orf70	17	79514376	Missense_Mutation	SNP	G	TCGA-HC-8257-01A-11D-2260-08	23239892	79514376	1680834	58	10731											
ZNF407	55628	broad.mit.edu	37	chr18	72343683	72343683	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctacatatgcatatcaaacaAgcacatgggccacagaaggt	16	7	8	10	0	1	1	1	0	0	1	1	1	1	1	1	2	4	2	1	2	6	3			TCGA-HC-8257-01A-11D-2260-08	TCGA-HC-8257-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7373089-17c1-4809-b236-dec22225a3f0	1b6bdf28-2065-413f-b851-d6834173d5f0	g.chr18:72343683A>T	ENST00000299687.5	+	1	708	c.708A>T	c.(706-708)caA>caT	p.Q236H	ZNF407_ENST00000309902.6_Missense_Mutation_p.Q236H|ZNF407_ENST00000582337.1_Missense_Mutation_p.Q236H|ZNF407_ENST00000577538.1_Missense_Mutation_p.Q236H	NM_017757.2	NP_060227.2	Q9C0G0	ZN407_HUMAN	zinc finger protein 407	236					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2)	67		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.184)		ATATCAAACAAGCACATGGGC	0.443																																						ENST00000299687.5																			0				central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2)	67						c.(706-708)caA>caT		zinc finger protein 407							148	151	150					18																	72343683		2078	4223	6301	SO:0001583	missense	55628				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr18:72343683A>T	AB051490	CCDS45885.1, CCDS54191.1, CCDS58634.1	18q23	2013-01-08			ENSG00000215421	ENSG00000215421		"Zinc fingers, C2H2-type"	19904	protein-coding gene	gene with protein product		615894				11214970	Standard	NM_017757		Approved	FLJ20307, FLJ13839, KIAA1703	uc002llw.2	Q9C0G0		ENST00000299687.5:c.708A>T	18.37:g.72343683A>T	ENSP00000299687:p.Gln236His					ZNF407_ENST00000577538.1_Missense_Mutation_p.Q236H|ZNF407_ENST00000309902.6_Missense_Mutation_p.Q236H|ZNF407_ENST00000582337.1_Missense_Mutation_p.Q236H	p.Q236H	NM_017757.2	NP_060227.2	Q9C0G0	ZN407_HUMAN		BRCA - Breast invasive adenocarcinoma(31;0.184)	1	708	+		Esophageal squamous(42;0.131)|Prostate(75;0.173)	236					B5MD54|Q96MY0|Q9H8A1|Q9NXD4|Q9NXD7	Missense_Mutation	SNP	ENST00000299687.5	37	c.708A>T	CCDS45885.1	.	.	.	.	.	.	.	.	.	.	A	9.434	1.086268	0.20390	.	.	ENSG00000215421	ENST00000299687;ENST00000309902	T;T	0.15139	2.45;2.45	4.94	-7.44	0.01379	Zinc finger, C2H2-like (1);	0.406062	0.15857	N	0.241213	T	0.08179	0.0204	L	0.41415	1.275	0.09310	N	1	B;B;B	0.14438	0.004;0.01;0.002	B;B;B	0.14578	0.011;0.006;0.002	T	0.31971	-0.9924	10	0.39692	T	0.17	.	1.5931	0.02658	0.4865:0.155:0.0974:0.2611	.	236;236;236	Q9C0G0-3;Q9C0G0-2;Q9C0G0	.;.;ZN407_HUMAN	H	236	ENSP00000299687:Q236H;ENSP00000310359:Q236H	ENSP00000299687:Q236H	Q	+	3	2	ZNF407	70472671	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.527000	0.06200	0.210000	0.20664	-0.345000	0.07892	CAA		0.443	ZNF407-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444903.1	NM_017757		31	76	0	0	0	1	0	31	76					T	72343683	A	T	72343683	3	4	230	1	0	0	0	0	1	0	0	0	17884	69	3	5	710	5	ZNF407	18	72343683	Missense_Mutation	SNP	A	TCGA-HC-8257-01A-11D-2260-08		72343683	5733565	59	10732											
AKAP8	10270	broad.mit.edu	37	chr19	15471682	15471682	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcggttgtgattgtggtccaCggagtgcaggtgccgctgga	5	10	18	8	3	0	1	0	1	0	0	1	3	1	3	2	5	2	3	2	5	0	2			TCGA-HC-8257-01A-11D-2260-08	TCGA-HC-8257-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7373089-17c1-4809-b236-dec22225a3f0	1b6bdf28-2065-413f-b851-d6834173d5f0	g.chr19:15471682C>T	ENST00000269701.2	-	12	1564	c.1504G>A	c.(1504-1506)Gtg>Atg	p.V502M		NM_005858.3	NP_005849.1	O43823	AKAP8_HUMAN	A kinase (PRKA) anchor protein 8	502					mitotic chromosome condensation (GO:0007076)|mitotic nuclear division (GO:0007067)|signal transduction (GO:0007165)	condensed chromosome (GO:0000793)|female pronucleus (GO:0001939)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)	26						TTGTGGTCCACGGAGTGCAGG	0.607																																					GBM(190;1671 2163 3274 27186 30476)	ENST00000269701.2																			0				breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)	26						c.(1504-1506)Gtg>Atg		A kinase (PRKA) anchor protein 8							80	61	68					19																	15471682		2203	4300	6503	SO:0001583	missense	10270				signal transduction	nuclear matrix		g.chr19:15471682C>T	Y11997	CCDS12329.1	19p13.12	2012-05-16			ENSG00000105127	ENSG00000105127		"A-kinase anchor proteins"	378	protein-coding gene	gene with protein product	"A-kinase anchor protein, 95kDa"	604692				9473338	Standard	NM_005858		Approved	AKAP95, DKFZp586B1222	uc002nav.3	O43823		ENST00000269701.2:c.1504G>A	19.37:g.15471682C>T	ENSP00000269701:p.Val502Met						p.V502M	NM_005858.3	NP_005849.1	O43823	AKAP8_HUMAN			12	1564	-			502						Missense_Mutation	SNP	ENST00000269701.2	37	c.1504G>A	CCDS12329.1	.	.	.	.	.	.	.	.	.	.	C	11.90	1.775505	0.31411	.	.	ENSG00000105127	ENST00000269701	T	0.42900	0.96	5.73	3.53	0.40419	.	1.201320	0.06219	N	0.686501	T	0.37461	0.1004	N	0.02539	-0.55	0.09310	N	0.999998	D	0.71674	0.998	D	0.65773	0.938	T	0.48658	-0.9016	10	0.25751	T	0.34	-10.5632	10.0797	0.42381	0.1353:0.5503:0.3144:0.0	.	502	O43823	AKAP8_HUMAN	M	502	ENSP00000269701:V502M	ENSP00000269701:V502M	V	-	1	0	AKAP8	15332682	0.340000	0.24792	0.001000	0.08648	0.657000	0.38888	1.799000	0.38824	0.706000	0.31912	0.655000	0.94253	GTG		0.607	AKAP8-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461293.3	NM_005858		9	22	0	0	0	1	0	9	22					T	15471682	C	T	15471682	3	4	230	1	0	0	0	0	1	0	0	0	457	536	19	1	586	1	AKAP8	19	15471682	Missense_Mutation	SNP	C	TCGA-HC-8257-01A-11D-2260-08		15471682	43657301	60	10733											
PRX	57716	broad.mit.edu	37	chr19	40902612	40902612	+	Silent	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	agtttcatctctgacactttCggcagctgtacctctggaag	8	13	9	11	1	3	1	1	1	2	0	5	2	3	2	1	2	2	4	1	2	2	3	rs202113722		TCGA-HC-8257-01A-11D-2260-08	TCGA-HC-8257-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7373089-17c1-4809-b236-dec22225a3f0	1b6bdf28-2065-413f-b851-d6834173d5f0	g.chr19:40902612C>G	ENST00000324001.7	-	7	1917	c.1647G>C	c.(1645-1647)ccG>ccC	p.P549P	PRX_ENST00000291825.7_3'UTR	NM_181882.2	NP_870998.2	Q9BXM0	PRAX_HUMAN	periaxin	549	55 X 5 AA approximate tandem repeats of [LVMAG]-[PSREQC]-[EDKL]-[LIVMAP]- [AQKHRPE]; that may have a tripeptide spacer of [LV]-P-[KER].				axon ensheathment (GO:0008366)|cell death (GO:0008219)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.P549P(1)		breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9)	47			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			CTGACACTTTCGGCAGCTGTA	0.577																																						ENST00000324001.7																			1	Substitution - coding silent(1)	p.P549P(1)	ovary(1)	breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9)	47						c.(1645-1647)ccG>ccC		periaxin							89	102	97					19																	40902612		2202	4297	6499	SO:0001819	synonymous_variant	57716				axon ensheathment	cytoplasm|nucleus|plasma membrane	protein binding	g.chr19:40902612C>G	AB046840	CCDS12556.1, CCDS33028.1	19q13.2	2014-09-17				ENSG00000105227			13797	protein-coding gene	gene with protein product		605725				10839370, 9143514	Standard	NM_181882		Approved	KIAA1620	uc002onr.3	Q9BXM0		ENST00000324001.7:c.1647G>C	19.37:g.40902612C>G						PRX_ENST00000291825.7_3'UTR	p.P549P	NM_181882.2	NP_870998.2	Q9BXM0	PRAX_HUMAN	Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)		7	1917	-			549			55 X 5 AA approximate tandem repeats of [LVMAG]-[PSREQC]-[EDKL]-[LIVMAP]- [AQKHRPE]; that may have a tripeptide spacer of [LV]-P-[KER].		Q9BXL9|Q9HCF2	Silent	SNP	ENST00000324001.7	37	c.1647G>C	CCDS33028.1																																																																																				0.577	PRX-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000462582.1	NM_020956		3	186	0	0	0	1	0	3	186					G	40902612	C	G	40902612	2	3	230	1	0	0	0	0	0	0	0	1	12642	871	31	5		5	PRX	19	40902612	Silent	SNP	C	TCGA-HC-8257-01A-11D-2260-08	25430930	40902612	18226371	61	10734											
PSG6	5675	broad.mit.edu	37	chr19	43411267	43411267	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tccgcaaagcaggacaagtcGaggttttctcctgaacggta	11	9	11	10	3	1	1	0	1	1	0	4	3	2	2	2	3	2	4	2	3	4	3			TCGA-HC-8257-01A-11D-2260-08	TCGA-HC-8257-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7373089-17c1-4809-b236-dec22225a3f0	1b6bdf28-2065-413f-b851-d6834173d5f0	g.chr19:43411267G>A	ENST00000292125.2	-	5	1091	c.1047C>T	c.(1045-1047)ctC>ctT	p.L349L	PSG6_ENST00000402603.4_Silent_p.L256L|PSG6_ENST00000187910.2_Silent_p.L349L	NM_002782.4	NP_002773.1	Q00889	PSG6_HUMAN	pregnancy specific beta-1-glycoprotein 6	349	Ig-like C2-type 3.				female pregnancy (GO:0007565)	extracellular region (GO:0005576)				central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(19)|ovary(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	44		Prostate(69;0.00899)				AGGACAAGTCGAGGTTTTCTC	0.463																																						ENST00000187910.2																			0				central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(19)|ovary(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	44						c.(1045-1047)ctC>ctT		pregnancy specific beta-1-glycoprotein 6							172	184	180					19																	43411267		2201	4300	6501	SO:0001819	synonymous_variant	5675							g.chr19:43411267G>A		CCDS12613.1, CCDS33038.1	19q13.2	2013-01-29			ENSG00000170848	ENSG00000170848		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	9523	protein-coding gene	gene with protein product		176395				1690992	Standard	NM_002782		Approved			Q00889	OTTHUMG00000151127	ENST00000292125.2:c.1047C>T	19.37:g.43411267G>A						PSG6_ENST00000292125.2_Silent_p.L349L|PSG6_ENST00000402603.4_Silent_p.L256L	p.L349L	NM_001031850.3	NP_001027020.1					5	1112	-		Prostate(69;0.00899)						O75244|Q15224|Q15235|Q549K1	Silent	SNP	ENST00000292125.2	37	c.1047C>T	CCDS12613.1																																																																																				0.463	PSG6-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000321436.1	NM_002782		32	175	0	0	0	1	0	32	175					A	43411267	G	A	43411267	2	1	230	1	0	0	0	0	0	0	0	1	12659	1045	37	2		2	PSG6	19	43411267	Silent	SNP	G	TCGA-HC-8257-01A-11D-2260-08	2508655	43411267	15717716	62	10735											
FUT2	2524	broad.mit.edu	37	chr19	49207086	49207086	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atcatgaccattgggacgttCgggatctgggccgcatacct	8	10	12	11	3	2	1	1	1	1	0	3	3	2	3	3	3	1	2	3	3	1	3			TCGA-HC-8257-01A-11D-2260-08	TCGA-HC-8257-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7373089-17c1-4809-b236-dec22225a3f0	1b6bdf28-2065-413f-b851-d6834173d5f0	g.chr19:49207086C>T	ENST00000425340.2	+	2	990	c.873C>T	c.(871-873)ttC>ttT	p.F291F	FUT2_ENST00000391876.4_Silent_p.F291F	NM_000511.5|NM_001097638.2	NP_000502.4|NP_001091107.1	Q10981	FUT2_HUMAN	fucosyltransferase 2 (secretor status included)	291					carbohydrate metabolic process (GO:0005975)|fucosylation (GO:0036065)|L-fucose catabolic process (GO:0042355)|protein glycosylation (GO:0006486)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	fucosyltransferase activity (GO:0008417)|galactoside 2-alpha-L-fucosyltransferase activity (GO:0008107)			breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(2)	7		all_lung(116;4.89e-06)|all_epithelial(76;7.04e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.00011)|all cancers(93;0.000238)|GBM - Glioblastoma multiforme(486;0.0164)|Epithelial(262;0.017)		TTGGGACGTTCGGGATCTGGG	0.542																																						ENST00000425340.2																			0				breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(2)	7						c.(871-873)ttC>ttT		fucosyltransferase 2 (secretor status included)							255	207	224					19																	49207086		2203	4300	6503	SO:0001819	synonymous_variant	2524				L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to Golgi membrane	galactoside 2-alpha-L-fucosyltransferase activity	g.chr19:49207086C>T		CCDS33069.1	19q13.33	2014-07-19			ENSG00000176920	ENSG00000176920		"Fucosyltransferases"	4013	protein-coding gene	gene with protein product	"alpha (1,2) fucosyltransferase", "galactoside 2-alpha-L-fucosyltransferase 2", "GDP-L-fucose:beta-D-galactoside 2-alpha-L-fucosyltransferase 2", "alpha(1,2)FT2", "secretor factor", "secretor blood group alpha-2-fucosyltransferase"	182100		SE		1763885	Standard	NM_000511		Approved	sej, Se2, SEC2	uc010emc.3	Q10981	OTTHUMG00000164427	ENST00000425340.2:c.873C>T	19.37:g.49207086C>T						FUT2_ENST00000391876.4_Silent_p.F291F	p.F291F	NM_000511.5|NM_001097638.2	NP_000502.4|NP_001091107.1	Q10981	FUT2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00011)|all cancers(93;0.000238)|GBM - Glioblastoma multiforme(486;0.0164)|Epithelial(262;0.017)	2	990	+		all_lung(116;4.89e-06)|all_epithelial(76;7.04e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)	291					Q0VAG5|Q14338|Q5D0G2	Silent	SNP	ENST00000425340.2	37	c.873C>T	CCDS33069.1																																																																																				0.542	FUT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378731.2	NM_000511		25	184	0	0	0	1	0	25	184					T	49207086	C	T	49207086	2	4	230	1	0	0	0	0	0	0	0	1	6104	883	31	2		2	FUT2	19	49207086	Silent	SNP	C	TCGA-HC-8257-01A-11D-2260-08	5795819	49207086	9921897	63	10736											
TRPM4	54795	broad.mit.edu	37	chr19	49713988	49713988	+	Frame_Shift_Del	DEL	C	C	-																															ggtttacctttctaaggaagCcgagcggaagctgctaacgt																										TCGA-HC-8257-01A-11D-2260-08	TCGA-HC-8257-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7373089-17c1-4809-b236-dec22225a3f0	1b6bdf28-2065-413f-b851-d6834173d5f0	g.chr19:49713988delC	ENST00000252826.5	+	22	3476	c.3350delC	c.(3349-3351)gccfs	p.A1117fs	TRPM4_ENST00000355712.5_Frame_Shift_Del_p.A763fs|TRPM4_ENST00000427978.2_Frame_Shift_Del_p.A972fs	NM_017636.3	NP_060106.2	Q8TD43	TRPM4_HUMAN	transient receptor potential cation channel, subfamily M, member 4	1117	Calmodulin-binding.				calcium ion transmembrane transport (GO:0070588)|cardiac conduction (GO:0061337)|dendritic cell chemotaxis (GO:0002407)|ion transmembrane transport (GO:0034220)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell proliferation (GO:0008284)|protein sumoylation (GO:0016925)|regulation of membrane potential (GO:0042391)|regulation of T cell cytokine production (GO:0002724)|transmembrane transport (GO:0055085)|vasoconstriction (GO:0042310)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium activated cation channel activity (GO:0005227)|calcium channel activity (GO:0005262)			breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(18)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	49		all_lung(116;8.54e-05)|Lung NSC(112;0.000139)|all_neural(266;0.0506)|Ovarian(192;0.15)		all cancers(93;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000222)|GBM - Glioblastoma multiforme(486;0.00339)|Epithelial(262;0.00751)		TCTAAGGAAGCCGAGCGGAAG	0.622																																						ENST00000252826.5																			0				breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(18)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	49						c.(3349-3351)gcfs		transient receptor potential cation channel, subfamily M, member 4							35	42	40					19																	49713988		2203	4300	6503	SO:0001589	frameshift_variant	54795				dendritic cell chemotaxis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell proliferation|protein sumoylation|regulation of T cell cytokine production	endoplasmic reticulum|Golgi apparatus|integral to membrane|plasma membrane	ATP binding|calcium activated cation channel activity|calmodulin binding	g.chr19:49713988delC	AK000048	CCDS33073.1, CCDS56098.1	19q13.3	2011-12-14				ENSG00000130529		"Voltage-gated ion channels / Transient receptor potential cation channels"	17993	protein-coding gene	gene with protein product		606936				11535825, 16382100	Standard	NM_017636		Approved	FLJ20041	uc002pmw.3	Q8TD43		ENST00000252826.5:c.3350delC	19.37:g.49713988delC	ENSP00000252826:p.Ala1117fs					TRPM4_ENST00000355712.5_Frame_Shift_Del_p.A763fs|TRPM4_ENST00000427978.2_Frame_Shift_Del_p.A972fs	p.A1117fs	NM_017636.3	NP_060106.2	Q8TD43	TRPM4_HUMAN		all cancers(93;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000222)|GBM - Glioblastoma multiforme(486;0.00339)|Epithelial(262;0.00751)	22	3476	+		all_lung(116;8.54e-05)|Lung NSC(112;0.000139)|all_neural(266;0.0506)|Ovarian(192;0.15)	1117			Calmodulin-binding.		A2RU25|Q7Z5D9|Q96L84|Q9NXV1	Frame_Shift_Del	DEL	ENST00000252826.5	37	c.3350delC	CCDS33073.1																																																																																				0.622	TRPM4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465543.2	NM_017636		23	41						23	41	---	---	---	---	-	49713988	C	-	49713988	7	5	230	1	0	1	0	1	0	0	0	0	16585	739	26	0	3436	0	TRPM4	19	49713988	Frame_Shift_Del	DEL	C	TCGA-HC-8257-01A-11D-2260-08	506902	49713988	9414995	64	10737											
LAIR1	3903	broad.mit.edu	37	chr19	54872628	54872628	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttcacttactgagtcaatgcGgaatctggcctctgactcag	9	12	9	11	1	5	2	3	2	2	0	5	3	5	3	1	2	2	0	1	2	3	2	rs371498223		TCGA-HC-8257-01A-11D-2260-08	TCGA-HC-8257-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7373089-17c1-4809-b236-dec22225a3f0	1b6bdf28-2065-413f-b851-d6834173d5f0	g.chr19:54872628G>A	ENST00000391742.2	-	3	411	c.259C>T	c.(259-261)Cgc>Tgc	p.R87C	LAIR1_ENST00000474878.1_Missense_Mutation_p.R86C|LAIR1_ENST00000391743.3_Missense_Mutation_p.R69C|LAIR1_ENST00000434277.2_Missense_Mutation_p.R86C|LAIR1_ENST00000463489.1_5'UTR|LAIR1_ENST00000313038.6_Missense_Mutation_p.R80C|LAIR1_ENST00000348231.4_Missense_Mutation_p.R87C			Q6GTX8	LAIR1_HUMAN	leukocyte-associated immunoglobulin-like receptor 1	87	Ig-like C2-type.				immune system process (GO:0002376)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(9)|ovary(4)|prostate(1)|stomach(3)	26	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0573)		GAGTCAATGCGGAATCTGGCC	0.493																																						ENST00000391743.3																			0				breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(9)|ovary(4)|prostate(1)|stomach(3)	26						c.(205-207)Cgc>Tgc		leukocyte-associated immunoglobulin-like receptor 1		G	CYS/ARG,CYS/ARG	0,4406		0,0,2203	200	188	192		259,259	-4.5	0	19		192	1,8599		0,1,4299	no	missense,missense	LAIR1	NM_002287.3,NM_021706.2	180,180	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging	87/288,87/271	54872628	1,13005	2203	4300	6503	SO:0001583	missense	3903					integral to membrane|plasma membrane	protein binding|receptor activity	g.chr19:54872628G>A	AF013249	CCDS12891.1, CCDS12892.1, CCDS74448.1, CCDS74449.1, CCDS74450.1	19q13.4	2013-01-29	2006-03-23		ENSG00000167613	ENSG00000167613		"Leukocyte-associated Ig like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6477	protein-coding gene	gene with protein product		602992	"leukocyte-associated Ig-like receptor 1"			9285412	Standard	XM_005258924		Approved	CD305	uc002qfk.1	Q6GTX8	OTTHUMG00000065545	ENST00000391742.2:c.259C>T	19.37:g.54872628G>A	ENSP00000375622:p.Arg87Cys					LAIR1_ENST00000434277.2_Missense_Mutation_p.R86C|LAIR1_ENST00000463489.1_5'UTR|LAIR1_ENST00000348231.4_Missense_Mutation_p.R87C|LAIR1_ENST00000313038.6_Missense_Mutation_p.R80C|LAIR1_ENST00000391742.2_Missense_Mutation_p.R87C|LAIR1_ENST00000474878.1_Missense_Mutation_p.R86C	p.R69C			Q6GTX8	LAIR1_HUMAN		GBM - Glioblastoma multiforme(193;0.0573)	2	485	-	Ovarian(34;0.19)		87			Ig-like C2-type.			Missense_Mutation	SNP	ENST00000391742.2	37	c.205C>T	CCDS12891.1	.	.	.	.	.	.	.	.	.	.	.	13.26	2.183415	0.38609	0.0	1.16E-4	ENSG00000167613	ENST00000391743;ENST00000391742;ENST00000434277;ENST00000348231;ENST00000313038;ENST00000474878;ENST00000438193	T;T;T;T;T;T;T	0.12147	2.71;2.71;2.71;2.71;2.71;2.71;5.73	2.92	-4.47	0.03525	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	3.150370	0.01046	N	0.004395	T	0.27489	0.0675	L	0.55481	1.735	0.09310	N	1	D;D;D;D;D;D	0.89917	0.998;1.0;0.999;0.997;0.991;1.0	D;D;D;D;P;D	0.67725	0.921;0.953;0.922;0.953;0.57;0.953	T	0.44802	-0.9304	10	0.72032	D	0.01	.	5.6323	0.17518	0.2099:0.4646:0.3255:0.0	.	87;69;86;86;87;87	Q6GTX8-4;A8MZ84;Q6GTX8-3;D3YTC8;Q6GTX8-2;Q6GTX8	.;.;.;.;.;LAIR1_HUMAN	C	69;87;86;87;80;86;81	ENSP00000375623:R69C;ENSP00000375622:R87C;ENSP00000391003:R86C;ENSP00000301193:R87C;ENSP00000319204:R80C;ENSP00000418998:R86C;ENSP00000392058:R81C	ENSP00000319204:R80C	R	-	1	0	LAIR1	59564440	0.000000	0.05858	0.000000	0.03702	0.039000	0.13416	-1.375000	0.02563	-0.728000	0.04882	0.580000	0.79431	CGC		0.493	LAIR1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000140506.1			77	154	0	0	0	1	0	77	154					A	54872628	G	A	54872628	3	1	230	1	0	0	0	0	1	0	0	0	8602	1116	39	2	636	2	LAIR1	19	54872628	Missense_Mutation	SNP	G	TCGA-HC-8257-01A-11D-2260-08	5158640	54872628	4256355	65	10738											
KIF16B	55614	broad.mit.edu	37	chr20	16409611	16409611	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctcaccaatatcttgctcCgtggaagcatcgtctctacc	8	12	7	14	2	3	0	1	0	2	0	6	1	4	1	3	1	4	3	3	1	4	3			TCGA-HC-8257-01A-11D-2260-08	TCGA-HC-8257-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7373089-17c1-4809-b236-dec22225a3f0	1b6bdf28-2065-413f-b851-d6834173d5f0	g.chr20:16409611C>T	ENST00000354981.2	-	14	1618	c.1461G>A	c.(1459-1461)acG>acA	p.T487T	KIF16B_ENST00000408042.1_Silent_p.T487T|KIF16B_ENST00000378003.2_5'UTR|KIF16B_ENST00000355755.3_Silent_p.T487T	NM_001199865.1|NM_024704.4	NP_001186794.1|NP_078980.3	Q96L93	KI16B_HUMAN	kinesin family member 16B	487	FHA.				ATP catabolic process (GO:0006200)|early endosome to late endosome transport (GO:0045022)|endoderm development (GO:0007492)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|formation of primary germ layer (GO:0001704)|Golgi to endosome transport (GO:0006895)|microtubule-based movement (GO:0007018)|receptor catabolic process (GO:0032801)|regulation of receptor recycling (GO:0001919)	early endosome (GO:0005769)|endosome (GO:0005768)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|plus-end-directed microtubule motor activity (GO:0008574)			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2)	74						TATCTTGCTCCGTGGAAGCAT	0.378																																						ENST00000354981.2																			0				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2)	74						c.(1459-1461)acG>acA		kinesin family member 16B							123	109	114					20																	16409611		2203	4300	6503	SO:0001819	synonymous_variant	55614				cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|Golgi to endosome transport|microtubule-based movement|receptor catabolic process|regulation of receptor recycling	early endosome membrane|microtubule	ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity	g.chr20:16409611C>T	AK000142	CCDS13122.1, CCDS56178.1	20p11.23	2008-03-03	2008-03-03	2008-03-03	ENSG00000089177	ENSG00000089177		"Kinesins"	15869	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 23"	C20orf23		16084724, 16782399	Standard	NM_024704		Approved	FLJ20135, dJ971B4.1, SNX23	uc010gci.2	Q96L93	OTTHUMG00000031927	ENST00000354981.2:c.1461G>A	20.37:g.16409611C>T						KIF16B_ENST00000408042.1_Silent_p.T487T|KIF16B_ENST00000378003.2_5'UTR|KIF16B_ENST00000355755.3_Silent_p.T487T	p.T487T	NM_001199865.1|NM_024704.4	NP_001186794.1|NP_078980.3	Q96L93	KI16B_HUMAN			14	1618	-			487			FHA.		A6NKJ9|A7E2A8|B1AKG3|B1AKT7|C9JDN5|C9JI52|C9JSM8|C9JWJ7|Q2TBF5|Q5HYC0|Q5HYK1|Q5JWW3|Q5TFK5|Q86VL9|Q86YS5|Q8IYU0|Q9BQJ8|Q9BQM0|Q9BQM1|Q9BQM5|Q9H5U0|Q9HCI2|Q9NXN9	Silent	SNP	ENST00000354981.2	37	c.1461G>A	CCDS13122.1																																																																																				0.378	KIF16B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078104.2	NM_017683		6	91	0	0	0	1	0	6	91					T	16409611	C	T	16409611	2	4	230	1	0	0	0	0	0	0	0	1	8278	639	23	2		2	KIF16B	20	16409611	Silent	SNP	C	TCGA-HC-8257-01A-11D-2260-08		16409611	46615909	66	10739											
KCNG1	3755	broad.mit.edu	37	chr20	49626294	49626294	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcggccgggccctcgctgtcGcggccctcgctgtccagcgc	1	7	14	19	7	0	0	0	0	0	0	5	0	1	0	4	3	1	2	4	3	0	0			TCGA-HC-8257-01A-11D-2260-08	TCGA-HC-8257-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7373089-17c1-4809-b236-dec22225a3f0	1b6bdf28-2065-413f-b851-d6834173d5f0	g.chr20:49626294G>A	ENST00000371571.4	-	2	867	c.582C>T	c.(580-582)cgC>cgT	p.R194R	KCNG1_ENST00000506387.1_5'Flank|RP5-955M13.4_ENST00000424566.1_RNA|KCNG1_ENST00000396017.3_Silent_p.R194R	NM_002237.3	NP_002228.2	Q9UIX4	KCNG1_HUMAN	potassium voltage-gated channel, subfamily G, member 1	194					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						CCTCGCTGTCGCGGCCCTCGC	0.716																																						ENST00000371571.4																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						c.(580-582)cgC>cgT		potassium voltage-gated channel, subfamily G, member 1							18	20	19					20																	49626294		2199	4282	6481	SO:0001819	synonymous_variant	3755					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr20:49626294G>A	AF033383	CCDS13436.1	20q13	2011-07-05			ENSG00000026559	ENSG00000026559		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6248	protein-coding gene	gene with protein product		603788		KCNG		9434767, 16382104	Standard	NM_002237		Approved	Kv6.1, kH2, K13	uc002xwa.4	Q9UIX4	OTTHUMG00000032745	ENST00000371571.4:c.582C>T	20.37:g.49626294G>A						KCNG1_ENST00000396017.3_Silent_p.R194R|RP5-955M13.4_ENST00000424566.1_RNA	p.R194R	NM_002237.3	NP_002228.2	Q9UIX4	KCNG1_HUMAN			2	867	-			194					A8K3S4|O43528|Q5JXL5|Q9BRC1	Silent	SNP	ENST00000371571.4	37	c.582C>T	CCDS13436.1																																																																																				0.716	KCNG1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079726.4	NM_002237		3	34	0	0	0	1	0	3	34					A	49626294	G	A	49626294	2	1	230	1	0	0	0	0	0	0	0	1	8027	1074	38	1		1	KCNG1	20	49626294	Silent	SNP	G	TCGA-HC-8257-01A-11D-2260-08	33216683	49626294	13399226	67	10740											
MLC1	23209	broad.mit.edu	37	chr22	50512646	50512646	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggccagaggggttactcacgGccactaggatccaaaagaac	13	5	12	11	1	1	2	1	0	0	2	2	3	2	3	3	5	2	1	3	5	5	2	rs568289086		TCGA-HC-8257-01A-11D-2260-08	TCGA-HC-8257-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7373089-17c1-4809-b236-dec22225a3f0	1b6bdf28-2065-413f-b851-d6834173d5f0	g.chr22:50512646G>A	ENST00000311597.5	-	8	1319	c.713C>T	c.(712-714)gCc>gTc	p.A238V	MLC1_ENST00000450140.2_Splice_Site_p.A186V|MLC1_ENST00000535444.1_Splice_Site_p.A159V|MLC1_ENST00000538737.1_Splice_Site_p.A204V|MLC1_ENST00000395876.2_Splice_Site_p.A238V|MLC1_ENST00000431262.2_Splice_Site_p.A208V|MLC1_ENST00000483836.1_5'Flank	NM_015166.3	NP_055981.1	Q15049	MLC1_HUMAN	megalencephalic leukoencephalopathy with subcortical cysts 1	238					caveolin-mediated endocytosis (GO:0072584)|cellular response to cholesterol (GO:0071397)|ion transport (GO:0006811)|positive regulation of intracellular transport (GO:0032388)|protein oligomerization (GO:0051259)|regulation of response to osmotic stress (GO:0047484)|transport (GO:0006810)|vesicle-mediated transport (GO:0016192)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|caveola (GO:0005901)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	protein complex binding (GO:0032403)|protein transporter activity (GO:0008565)|transporter activity (GO:0005215)			endometrium(1)|kidney(1)|large_intestine(5)|lung(7)|pancreas(1)|prostate(3)	18		all_cancers(38;7.69e-11)|all_epithelial(38;9.52e-10)|all_lung(38;3.67e-05)|Breast(42;0.000776)|Lung NSC(38;0.000946)|Ovarian(80;0.0365)|Lung SC(80;0.113)		READ - Rectum adenocarcinoma(2;0.000669)|Colorectal(2;0.00242)|LUAD - Lung adenocarcinoma(64;0.0695)|BRCA - Breast invasive adenocarcinoma(115;0.216)		GTTACTCACGGCCACTAGGAT	0.622													G|||	1	0.000199681	0	0	5008	,	,		12751	0		0	False		,,,				2504	0.001					ENST00000311597.5																			0				endometrium(1)|kidney(1)|large_intestine(5)|lung(7)|pancreas(1)|prostate(3)	18						c.e8+1		megalencephalic leukoencephalopathy with subcortical cysts 1							78	61	67					22																	50512646		2202	4299	6501	SO:0001630	splice_region_variant	23209					basolateral plasma membrane|endosome|integral to membrane|integral to membrane of membrane fraction	ion channel activity	g.chr22:50512646G>A	D25217	CCDS14083.1	22q13.33	2007-03-20			ENSG00000100427	ENSG00000100427			17082	protein-coding gene	gene with protein product		605908				7584026, 7584028	Standard	XR_430476		Approved	MLC, KIAA0027, LVM, VL	uc003bjg.1	Q15049	OTTHUMG00000150236	ENST00000311597.5:c.714+1C>T	22.37:g.50512646G>A						MLC1_ENST00000431262.2_Splice_Site_p.A208_splice|MLC1_ENST00000538737.1_Splice_Site_p.A204_splice|MLC1_ENST00000395876.2_Splice_Site_p.A238_splice|MLC1_ENST00000450140.2_Splice_Site_p.A186_splice|MLC1_ENST00000535444.1_Splice_Site_p.A159_splice	p.A238_splice	NM_015166.3	NP_055981.1	Q15049	MLC1_HUMAN		READ - Rectum adenocarcinoma(2;0.000669)|Colorectal(2;0.00242)|LUAD - Lung adenocarcinoma(64;0.0695)|BRCA - Breast invasive adenocarcinoma(115;0.216)	8	1319	-		all_cancers(38;7.69e-11)|all_epithelial(38;9.52e-10)|all_lung(38;3.67e-05)|Breast(42;0.000776)|Lung NSC(38;0.000946)|Ovarian(80;0.0365)|Lung SC(80;0.113)	238					B3KW61|B7Z659|Q5JZ83|Q8TAG4|Q96RP5|Q9UGY8	Splice_Site	SNP	ENST00000311597.5	37	c.714_splice	CCDS14083.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.075761	0.76415	.	.	ENSG00000100427	ENST00000395876;ENST00000311597;ENST00000538737;ENST00000431262;ENST00000535444;ENST00000450140;ENST00000442311	D;D;D;D;D;D;D	0.95980	-3.87;-3.87;-3.66;-3.49;-3.62;-3.72;-3.82	4.94	4.94	0.65067	.	0.000000	0.85682	D	0.000000	D	0.97222	0.9092	M	0.70275	2.135	0.80722	D	1	D;D;D;D	0.71674	0.998;0.998;0.974;0.998	D;D;P;D	0.80764	0.994;0.994;0.613;0.994	D	0.97787	1.0236	10	0.87932	D	0	-8.8097	15.4479	0.75248	0.0:0.0:1.0:0.0	.	204;208;186;238	F5H1B9;B7Z659;B7Z1X1;Q15049	.;.;.;MLC1_HUMAN	V	238;238;204;208;159;186;208	ENSP00000379216:A238V;ENSP00000310375:A238V;ENSP00000445805:A204V;ENSP00000415877:A208V;ENSP00000438910:A159V;ENSP00000412448:A186V;ENSP00000401385:A208V	ENSP00000310375:A238V	A	-	2	0	MLC1	48854773	1.000000	0.71417	0.976000	0.42696	0.052000	0.14988	8.237000	0.89807	2.431000	0.82371	0.655000	0.94253	GCC		0.622	MLC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316979.2	NM_015166	Missense_Mutation	12	16	0	0	0	1	0	12	16					A	50512646	G	A	50512646	5	1	230	1	0	0	0	0	0	0	1	0	9612	1217	42	3	440	3	MLC1	22	50512646	Splice_Site	SNP	G	TCGA-HC-8257-01A-11D-2260-08		50512646	791920	68	10741											
USP9X	8239	broad.mit.edu	37	chrX	40999970	40999970	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggttccagattttgcatgAtcgttttattaatggatcag	9	17	10	5	1	1	2	1	1	0	1	3	3	2	3	1	2	1	3	1	2	2	6			TCGA-HC-8257-01A-11D-2260-08	TCGA-HC-8257-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7373089-17c1-4809-b236-dec22225a3f0	1b6bdf28-2065-413f-b851-d6834173d5f0	g.chrX:40999970A>G	ENST00000324545.8	+	7	1349	c.716A>G	c.(715-717)gAt>gGt	p.D239G	USP9X_ENST00000378308.2_Missense_Mutation_p.D239G	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN	ubiquitin specific peptidase 9, X-linked	239					axon extension (GO:0048675)|BMP signaling pathway (GO:0030509)|cerebellar cortex structural organization (GO:0021698)|chromosome segregation (GO:0007059)|female gamete generation (GO:0007292)|gene expression (GO:0010467)|hippocampus development (GO:0021766)|in utero embryonic development (GO:0001701)|mitotic nuclear division (GO:0007067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|post-embryonic development (GO:0009791)|protein deubiquitination (GO:0016579)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent protein catabolic process (GO:0006511)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)|membrane (GO:0016020)	co-SMAD binding (GO:0070410)|cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)|ubiquitin thiolesterase activity (GO:0004221)			NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						ATTTTGCATGATCGTTTTATT	0.328																																					Ovarian(172;1807 2695 35459 49286)	ENST00000324545.7																			0				NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						c.(715-717)gAt>gGt		ubiquitin specific peptidase 9, X-linked							108	96	100					X																	40999970		2203	4300	6503	SO:0001583	missense	8239				BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity	g.chrX:40999970A>G	X98296	CCDS43930.1, CCDS55403.1	Xp11.4	2010-08-03	2006-02-14		ENSG00000124486	ENSG00000124486		"Ubiquitin-specific peptidases"	12632	protein-coding gene	gene with protein product		300072	"ubiquitin specific protease 9, X chromosome (fat facets-like Drosophila)", "ubiquitin specific protease 9, X-linked (fat facets-like, Drosophila)", "ubiquitin specific peptidase 9, X-linked (fat facets-like, Drosophila)"			8922996	Standard	NM_001039590		Approved	DFFRX, FAF	uc004dfb.3	Q93008	OTTHUMG00000021367	ENST00000324545.8:c.716A>G	X.37:g.40999970A>G	ENSP00000316357:p.Asp239Gly					USP9X_ENST00000378308.2_Missense_Mutation_p.D239G	p.D239G	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN			7	1349	+			239					O75550|Q8WWT3|Q8WX12	Missense_Mutation	SNP	ENST00000324545.8	37	c.716A>G	CCDS43930.1	.	.	.	.	.	.	.	.	.	.	A	15.79	2.937498	0.52972	.	.	ENSG00000124486	ENST00000378308;ENST00000324545	T;T	0.03065	4.06;4.06	6.06	6.06	0.98353	.	0.000000	0.85682	D	0.000000	T	0.05273	0.0140	L	0.43152	1.355	0.80722	D	1	B;B	0.18310	0.027;0.016	B;B	0.15484	0.013;0.006	T	0.42032	-0.9475	10	0.30078	T	0.28	.	15.4917	0.75611	1.0:0.0:0.0:0.0	.	239;239	Q93008-1;Q93008	.;USP9X_HUMAN	G	239	ENSP00000367558:D239G;ENSP00000316357:D239G	ENSP00000316357:D239G	D	+	2	0	USP9X	40884914	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.962000	0.93254	2.043000	0.60533	0.481000	0.45027	GAT		0.328	USP9X-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000056250.4	NM_004652		5	31	0	0	0	1	0	5	31					G	40999970	A	G	40999970	3	3	230	1	0	0	0	0	1	0	0	0	17087	333	12	4	738	4	USP9X	23	40999970	Missense_Mutation	SNP	A	TCGA-HC-8257-01A-11D-2260-08		40999970	114270590	69	10742											
SEPT6	23157	broad.mit.edu	37	chrX	118783981	118783981	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	actccgttgctgacaagctcGctggtgattttgattttgaa	8	15	10	8	2	0	4	0	4	0	0	2	4	1	4	1	1	2	4	1	1	2	5	rs143380835		TCGA-HC-8257-01A-11D-2260-08	TCGA-HC-8257-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7373089-17c1-4809-b236-dec22225a3f0	1b6bdf28-2065-413f-b851-d6834173d5f0	g.chrX:118783981G>A	ENST00000343984.5	-	5	873	c.609C>T	c.(607-609)agC>agT	p.S203S	SEPT6_ENST00000394617.2_Silent_p.S233S|SEPT6_ENST00000394610.1_Silent_p.S203S|SEPT6_ENST00000354228.4_Silent_p.S203S|SEPT6_ENST00000394616.4_Silent_p.S145S|SEPT6_ENST00000489216.1_Silent_p.S203S|SEPT6_ENST00000360156.7_Silent_p.S203S|SEPT6_ENST00000354416.3_Silent_p.S203S	NM_015129.5	NP_055944.2	Q14141	SEPT6_HUMAN	septin 6	203	Septin-type G.				cytokinesis (GO:0000910)|viral process (GO:0016032)	axon terminus (GO:0043679)|kinetochore (GO:0000776)|septin complex (GO:0031105)|synaptic vesicle (GO:0008021)	GTP binding (GO:0005525)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(3)	17						TGACAAGCTCGCTGGTGATTT	0.473			T	MLL	AML																																	ENST00000394610.1				Dom	yes		X	Xq24	23157	T	septin 6			L	MLL		AML		0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(3)	17						c.(607-609)agC>agT		septin 6		G	,,,	1,3834		0,1,1631,571	247	197	214		609,609,609,609	-4.2	0.8	X	dbSNP_134	214	0,6728		0,0,2428,1872	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	SEPT6	NM_015129.5,NM_145799.3,NM_145800.3,NM_145802.3	,,,	0,1,4059,2443	AA,AG,GG,G		0.0,0.0261,0.0095	,,,	203/435,203/428,203/428,203/430	118783981	1,10562	2203	4300	6503	SO:0001819	synonymous_variant	23157				cell cycle|cytokinesis|interspecies interaction between organisms	cleavage furrow|condensed chromosome kinetochore|midbody|septin complex|spindle	GTP binding|protein binding	g.chrX:118783981G>A	D50918	CCDS14583.1, CCDS14584.1, CCDS14585.1	Xq24	2013-01-21			ENSG00000125354	ENSG00000125354		"Septins"	15848	protein-coding gene	gene with protein product		300683				8590280, 10744683	Standard	NM_015129		Approved	KIAA0128, SEP2, SEPT2, MGC16619, MGC20339	uc004erv.3	Q14141	OTTHUMG00000022280	ENST00000343984.5:c.609C>T	X.37:g.118783981G>A						SEPT6_ENST00000394616.4_Silent_p.S145S|SEPT6_ENST00000360156.7_Silent_p.S203S|SEPT6_ENST00000354416.3_Silent_p.S203S|SEPT6_ENST00000343984.5_Silent_p.S203S|SEPT6_ENST00000354228.4_Silent_p.S203S|SEPT6_ENST00000489216.1_Silent_p.S203S|SEPT6_ENST00000394617.2_Silent_p.S233S	p.S203S	NM_145799.3	NP_665798.1	Q14141	SEPT6_HUMAN			5	873	-			203					Q5JTK0|Q969W5|Q96A13|Q96GR1|Q96P86|Q96P87	Silent	SNP	ENST00000343984.5	37	c.609C>T	CCDS14584.1																																																																																				0.473	SEPT6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058059.1	NM_145802		11	71	0	0	0	1	0	11	71					A	118783981	G	A	118783981	2	1	230	1	0	0	0	0	0	0	0	1	14068	1078	38	1		1	SEPT6	23	118783981	Silent	SNP	G	TCGA-HC-8257-01A-11D-2260-08	77784011	118783981	36486579	70	10743											
ZNF642	339559	broad.mit.edu	37	chr1	40960881	40960881	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tattgaacagaggcaccataAatatgatacacctacaaagc	18	8	6	9	0	0	3	0	2	0	1	0	3	0	3	2	1	4	1	2	1	8	6			TCGA-HC-8258-01A-11D-2260-08	TCGA-HC-8258-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	597e4011-ea99-4356-b1d9-8cfe35db7c3b	bf511245-3f97-49f0-9422-c646fa25dba0	g.chr1:40960881A>C	ENST00000372706.1	+	6	1737	c.731A>C	c.(730-732)aAa>aCa	p.K244T	RP11-656D10.3_ENST00000450713.1_RNA|ZFP69_ENST00000372705.3_Missense_Mutation_p.K244T			Q49AA0	ZFP69_HUMAN	ZFP69 zinc finger protein	244					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)										AGGCACCATAAATATGATACA	0.318																																						ENST00000372706.1																			0											c.(730-732)aAa>aCa		ZFP69 zinc finger protein							55	56	55					1																	40960881		2203	4299	6502	SO:0001583	missense	339559							g.chr1:40960881A>C	AK122618	CCDS30686.1	1p34.2	2013-01-09	2012-11-27	2012-11-27	ENSG00000187815	ENSG00000187815		"Zinc fingers, C2H2-type", "-", "-", "-"	24708	protein-coding gene	gene with protein product	"ZFP69 zinc finger protein A"		"zinc finger protein 642"	ZNF642			Standard	XM_005270808		Approved	ZKSCAN23A, FLJ16030, ZFP69A, ZSCAN54A	uc001cfo.3	Q49AA0	OTTHUMG00000007303	ENST00000372706.1:c.731A>C	1.37:g.40960881A>C	ENSP00000361791:p.Lys244Thr					RP11-656D10.3_ENST00000450713.1_RNA|ZFP69_ENST00000372705.3_Missense_Mutation_p.K244T	p.K244T							6	1737	+								Q5SWM5|Q6ZWK8	Missense_Mutation	SNP	ENST00000372706.1	37	c.731A>C	CCDS30686.1	.	.	.	.	.	.	.	.	.	.	A	7.634	0.679422	0.14907	.	.	ENSG00000187815	ENST00000372706;ENST00000372705	T;T	0.16324	2.35;2.35	4.44	4.44	0.53790	.	0.157867	0.30118	N	0.010377	T	0.09642	0.0237	N	0.10782	0.045	0.09310	N	1	B	0.19073	0.033	B	0.17098	0.017	T	0.23226	-1.0194	10	0.30078	T	0.28	-14.4261	12.3151	0.54951	1.0:0.0:0.0:0.0	.	244	Q49AA0	ZN642_HUMAN	T	244	ENSP00000361791:K244T;ENSP00000361790:K244T	ENSP00000361790:K244T	K	+	2	0	ZNF642	40733468	0.000000	0.05858	0.404000	0.26397	0.828000	0.46876	0.926000	0.28804	2.225000	0.72522	0.460000	0.39030	AAA		0.318	ZFP69-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019082.1	NM_198494		3	20	0	0	0	1	0	3	20					C	40960881	A	C	40960881	3	2	231	1	0	0	0	0	1	0	0	0	18055	14	1	5	749	5	ZNF642	1	40960881	Missense_Mutation	SNP	A	TCGA-HC-8258-01A-11D-2260-08		40960881	208289740	1	10744											
FLG	2312	broad.mit.edu	37	chr1	152285852	152285852	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgggacgctgaatgcctggAgctgtctcgtgcctgctcgt	4	12	14	11	3	1	1	0	1	1	0	3	3	1	3	2	2	4	3	2	2	1	1			TCGA-HC-8258-01A-11D-2260-08	TCGA-HC-8258-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	597e4011-ea99-4356-b1d9-8cfe35db7c3b	bf511245-3f97-49f0-9422-c646fa25dba0	g.chr1:152285852A>G	ENST00000368799.1	-	3	1545	c.1510T>C	c.(1510-1512)Tcc>Ccc	p.S504P	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	504	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GAATGCCTGGAGCTGTCTCGT	0.607									Ichthyosis																													ENST00000368799.1																			0				autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424						c.(1510-1512)Tcc>Ccc		filaggrin							313	300	305					1																	152285852		2203	4300	6503	SO:0001583	missense	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152285852A>G	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"EF-hand domain containing"	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.1510T>C	1.37:g.152285852A>G	ENSP00000357789:p.Ser504Pro					FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	p.S504P	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	1545	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		504			Ser-rich.		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	c.1510T>C	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	-	11.49	1.654873	0.29425	.	.	ENSG00000143631	ENST00000368799;ENST00000392689	T	0.03772	3.81	3.54	-3.24	0.05094	.	.	.	.	.	T	0.06234	0.0161	M	0.81682	2.555	0.09310	N	1	D	0.69078	0.997	D	0.81914	0.995	T	0.10268	-1.0637	9	0.49607	T	0.09	.	1.427	0.02325	0.378:0.3448:0.1089:0.1683	.	504	P20930	FILA_HUMAN	P	504;36	ENSP00000357789:S504P	ENSP00000357789:S504P	S	-	1	0	FLG	150552476	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-0.621000	0.05559	-0.723000	0.04915	0.414000	0.27820	TCC		0.607	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		28	648	0	0	0	1	0	28	648					G	152285852	A	G	152285852	3	3	231	1	0	0	0	0	1	0	0	0	5922	304	11	4	10679	4	FLG	1	152285852	Missense_Mutation	SNP	A	TCGA-HC-8258-01A-11D-2260-08	111324971	152285852	96964769	2	10745											
FLG2	388698	broad.mit.edu	37	chr1	152328035	152328035	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccatgttgtccaaagccagAggactgacctgagcctgatc	10	8	10	13	0	0	4	0	3	0	1	2	5	1	5	5	1	2	1	5	1	1	1			TCGA-HC-8258-01A-11D-2260-08	TCGA-HC-8258-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	597e4011-ea99-4356-b1d9-8cfe35db7c3b	bf511245-3f97-49f0-9422-c646fa25dba0	g.chr1:152328035A>C	ENST00000388718.5	-	3	2299	c.2227T>G	c.(2227-2229)Tct>Gct	p.S743A	FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	743	Ser-rich.				establishment of skin barrier (GO:0061436)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCAAAGCCAGAGGACTGACCT	0.507																																						ENST00000388718.5																			0				NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188						c.(2227-2229)Tct>Gct		filaggrin family member 2							292	285	288					1																	152328035		2203	4300	6503	SO:0001583	missense	388698						calcium ion binding|structural molecule activity	g.chr1:152328035A>C	AY827490	CCDS30861.1	1q21.3	2013-01-10			ENSG00000143520	ENSG00000143520		"EF-hand domain containing"	33276	protein-coding gene	gene with protein product						12477932	Standard	NM_001014342		Approved	IFPS	uc001ezw.4	Q5D862	OTTHUMG00000012245	ENST00000388718.5:c.2227T>G	1.37:g.152328035A>C	ENSP00000373370:p.Ser743Ala					FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	p.S743A	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	2299	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		743			Ser-rich.		Q9H4U1	Missense_Mutation	SNP	ENST00000388718.5	37	c.2227T>G	CCDS30861.1	.	.	.	.	.	.	.	.	.	.	A	9.348	1.064785	0.20067	.	.	ENSG00000143520	ENST00000388718	T	0.22134	1.97	4.64	4.64	0.57946	.	.	.	.	.	T	0.20251	0.0487	M	0.69185	2.1	0.26074	N	0.981184	D	0.61080	0.989	P	0.57679	0.825	T	0.08932	-1.0698	9	0.14252	T	0.57	-0.8615	12.053	0.53518	1.0:0.0:0.0:0.0	.	743	Q5D862	FILA2_HUMAN	A	743	ENSP00000373370:S743A	ENSP00000373370:S743A	S	-	1	0	FLG2	150594659	0.002000	0.14202	0.081000	0.20488	0.509000	0.34042	1.013000	0.29937	1.959000	0.56917	0.496000	0.49642	TCT		0.507	FLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034018.5	NM_001014342		6	412	0	0	0	1	0	6	412					C	152328035	A	C	152328035	3	2	231	1	0	0	0	0	1	0	0	0	5923	304	11	5	4952	5	FLG2	1	152328035	Missense_Mutation	SNP	A	TCGA-HC-8258-01A-11D-2260-08	42183	152328035	96922586	3	10746											
TIMM17A	10440	broad.mit.edu	37	chr1	201926447	201926447	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgactgtggtggggcctttaCgatgggtaccattggtggtg	5	13	17	6	1	0	1	0	1	0	0	0	2	0	1	2	6	2	1	2	6	2	4	rs377250405		TCGA-HC-8258-01A-11D-2260-08	TCGA-HC-8258-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	597e4011-ea99-4356-b1d9-8cfe35db7c3b	bf511245-3f97-49f0-9422-c646fa25dba0	g.chr1:201926447C>T	ENST00000367287.4	+	2	101	c.65C>T	c.(64-66)aCg>aTg	p.T22M		NM_006335.2	NP_006326.1	Q99595	TI17A_HUMAN	translocase of inner mitochondrial membrane 17 homolog A (yeast)	22					cellular protein metabolic process (GO:0044267)|protein targeting to mitochondrion (GO:0006626)	integral component of mitochondrial inner membrane (GO:0031305)|mitochondrial inner membrane presequence translocase complex (GO:0005744)	P-P-bond-hydrolysis-driven protein transmembrane transporter activity (GO:0015450)			kidney(1)|lung(3)|stomach(1)	5						GGGGCCTTTACGATGGGTACC	0.418																																						ENST00000367287.4																			0				kidney(1)|lung(3)|stomach(1)	5						c.(64-66)aCg>aTg		translocase of inner mitochondrial membrane 17 homolog A (yeast)		C	MET/THR	0,4406		0,0,2203	201	187	192		65	5	0.9	1		192	1,8599	1.2+/-3.3	0,1,4299	no	missense	TIMM17A	NM_006335.2	81	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	22/172	201926447	1,13005	2203	4300	6503	SO:0001583	missense	10440				protein targeting to mitochondrion	integral to membrane|mitochondrial inner membrane presequence translocase complex	P-P-bond-hydrolysis-driven protein transmembrane transporter activity	g.chr1:201926447C>T	AF106622	CCDS1417.1	1q32.1	2008-05-23			ENSG00000134375	ENSG00000134375			17315	protein-coding gene	gene with protein product		605057				8893850, 10339406	Standard	NM_006335		Approved	TIM17, TIM17A	uc001gxc.3	Q99595	OTTHUMG00000035806	ENST00000367287.4:c.65C>T	1.37:g.201926447C>T	ENSP00000356256:p.Thr22Met						p.T22M	NM_006335.2	NP_006326.1	Q99595	TI17A_HUMAN			2	101	+			22					B2RDM5|Q9BWF5	Missense_Mutation	SNP	ENST00000367287.4	37	c.65C>T	CCDS1417.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.155027	0.78114	0.0	1.16E-4	ENSG00000134375	ENST00000367287	T	0.28666	1.6	5.95	5.04	0.67666	.	0.000000	0.85682	D	0.000000	T	0.41604	0.1166	L	0.31526	0.94	0.80722	D	1	D	0.89917	1.0	D	0.74674	0.984	T	0.21008	-1.0258	10	0.39692	T	0.17	-0.3424	13.0032	0.58687	0.0:0.9222:0.0:0.0778	.	22	Q99595	TI17A_HUMAN	M	22	ENSP00000356256:T22M	ENSP00000356256:T22M	T	+	2	0	TIMM17A	200193070	1.000000	0.71417	0.909000	0.35828	0.982000	0.71751	7.533000	0.81994	1.524000	0.49035	0.655000	0.94253	ACG		0.418	TIMM17A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087092.1	NM_006335		3	33	0	0	0	1	0	3	33					T	201926447	C	T	201926447	3	4	231	1	0	0	0	0	1	0	0	0	15905	536	19	1	71	1	TIMM17A	1	201926447	Missense_Mutation	SNP	C	TCGA-HC-8258-01A-11D-2260-08	49598412	201926447	47324174	4	10747											
KIAA2018	205717	broad.mit.edu	37	chr3	113378681	113378681	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggaacattttgcactgaattAttagaccctattacagtatt	13	15	6	7	0	0	2	0	1	0	1	0	3	0	3	1	1	3	2	1	1	7	8			TCGA-HC-8258-01A-11D-2260-08	TCGA-HC-8258-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	597e4011-ea99-4356-b1d9-8cfe35db7c3b	bf511245-3f97-49f0-9422-c646fa25dba0	g.chr3:113378681A>T	ENST00000478658.1	-	5	1865	c.1848T>A	c.(1846-1848)aaT>aaA	p.N616K	KIAA2018_ENST00000491165.1_Intron|KIAA2018_ENST00000316407.4_Missense_Mutation_p.N616K			Q68DE3	K2018_HUMAN	KIAA2018	616						membrane (GO:0016020)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity (GO:0004571)			NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	80						GCACTGAATTATTAGACCCTA	0.448																																						ENST00000316407.4																			0				NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	80						c.(1846-1848)aaT>aaA		KIAA2018							134	130	131					3																	113378681		1916	4129	6045	SO:0001583	missense	205717				regulation of transcription, DNA-dependent	membrane|nucleus	calcium ion binding|DNA binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity	g.chr3:113378681A>T	AB095938	CCDS43133.1	3q13.2	2014-01-02			ENSG00000176542	ENSG00000176542			30494	protein-coding gene	gene with protein product							Standard	XM_005247208		Approved		uc003eam.3	Q68DE3	OTTHUMG00000159322	ENST00000478658.1:c.1848T>A	3.37:g.113378681A>T	ENSP00000420721:p.Asn616Lys					KIAA2018_ENST00000478658.1_Missense_Mutation_p.N616K|KIAA2018_ENST00000491165.1_Intron	p.N616K	NM_001009899.2	NP_001009899.2	Q68DE3	K2018_HUMAN			7	2258	-			616					Q7Z3L9|Q8IVF3|Q9H8T4	Missense_Mutation	SNP	ENST00000478658.1	37	c.1848T>A	CCDS43133.1	.	.	.	.	.	.	.	.	.	.	A	10.01	1.233570	0.22626	.	.	ENSG00000176542	ENST00000316407;ENST00000478658	T;T	0.13420	2.59;2.59	5.26	2.91	0.33838	.	0.689875	0.14781	N	0.298798	T	0.06050	0.0157	N	0.19112	0.55	0.25415	N	0.988324	B	0.24823	0.112	B	0.16722	0.016	T	0.39761	-0.9598	10	0.06236	T	0.91	-3.7844	3.8717	0.09039	0.5569:0.0:0.2892:0.1539	.	616	Q68DE3	K2018_HUMAN	K	616	ENSP00000320794:N616K;ENSP00000420721:N616K	ENSP00000320794:N616K	N	-	3	2	KIAA2018	114861371	0.592000	0.26832	1.000000	0.80357	0.994000	0.84299	1.957000	0.40392	0.830000	0.34757	0.528000	0.53228	AAT		0.448	KIAA2018-003	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000354591.1	NM_001009899		5	35	0	0	0	1	0	5	35					T	113378681	A	T	113378681	3	4	231	1	0	0	0	0	1	0	0	0	8268	446	16	5	4893	5	KIAA2018	3	113378681	Missense_Mutation	SNP	A	TCGA-HC-8258-01A-11D-2260-08		113378681	84643749	5	10748											
ADRA2C	152	broad.mit.edu	37	chr4	3769634	3769634	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcaacagctcgctcaaccCggtcatctacacggtcttca	9	9	7	16	3	5	0	3	0	2	0	6	0	5	0	1	2	5	3	1	2	3	2			TCGA-HC-8258-01A-11D-2260-08	TCGA-HC-8258-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	597e4011-ea99-4356-b1d9-8cfe35db7c3b	bf511245-3f97-49f0-9422-c646fa25dba0	g.chr4:3769634C>G	ENST00000330055.5	+	1	1510	c.1301C>G	c.(1300-1302)cCg>cGg	p.P434R	ADRA2C_ENST00000509482.1_Intron	NM_000683.3	NP_000674.2	P18825	ADA2C_HUMAN	adrenoceptor alpha 2C	434					activation of MAPK activity by adrenergic receptor signaling pathway (GO:0071883)|activation of protein kinase B activity (GO:0032148)|blood coagulation (GO:0007596)|cell-cell signaling (GO:0007267)|energy reserve metabolic process (GO:0006112)|epidermal growth factor-activated receptor transactivation by G-protein coupled receptor signaling pathway (GO:0035625)|female pregnancy (GO:0007565)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of epinephrine secretion (GO:0032811)|negative regulation of norepinephrine secretion (GO:0010700)|negative regulation of uterine smooth muscle contraction (GO:0070473)|platelet activation (GO:0030168)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of vasoconstriction (GO:0045907)|regulation of insulin secretion (GO:0050796)|regulation of sensory perception of pain (GO:0051930)|small molecule metabolic process (GO:0044281)	axon terminus (GO:0043679)|cytoplasm (GO:0005737)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	alpha-2A adrenergic receptor binding (GO:0031694)|alpha2-adrenergic receptor activity (GO:0004938)|epinephrine binding (GO:0051379)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	8				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)	Amoxapine(DB00543)|Amphetamine(DB00182)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bethanidine(DB00217)|Brimonidine(DB00484)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Clonidine(DB00575)|Clozapine(DB00363)|Desipramine(DB01151)|Doxepin(DB01142)|Dronedarone(DB04855)|Droxidopa(DB06262)|Ephedra(DB01363)|Epinephrine(DB00668)|Ergoloid mesylate(DB01049)|Fenoldopam(DB00800)|Iloperidone(DB04946)|Lisuride(DB00589)|Loxapine(DB00408)|Lurasidone(DB08815)|Maprotiline(DB00934)|Mephentermine(DB01365)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Mirtazapine(DB00370)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxymetazoline(DB00935)|Paliperidone(DB01267)|Pergolide(DB01186)|Phenoxybenzamine(DB00925)|Pramipexole(DB00413)|Quetiapine(DB01224)|Risperidone(DB00734)|Ropinirole(DB00268)|Tizanidine(DB00697)|Tolazoline(DB00797)|Xylometazoline(DB06694)|Yohimbine(DB01392)|Ziprasidone(DB00246)	TCGCTCAACCCGGTCATCTAC	0.597																																					Esophageal Squamous(12;454 628 4517 14479)	ENST00000330055.5																			0				endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	8						c.(1300-1302)cCg>cGg		adrenoceptor alpha 2C	Bethanidine(DB00217)|Brimonidine(DB00484)|Debrisoquin(DB04840)|Fenoldopam(DB00800)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Lofexidine(DB04948)|Norepinephrine(DB00368)|Yohimbine(DB01392)						28	33	32					4																	3769634		2189	4295	6484	SO:0001583	missense	152				activation of MAPK activity by adrenergic receptor signaling pathway|activation of protein kinase B activity|blood coagulation|cell-cell signaling|energy reserve metabolic process|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|negative regulation of epinephrine secretion|negative regulation of norepinephrine secretion|positive regulation of neuron differentiation|regulation of insulin secretion	endosome|integral to plasma membrane	alpha-2A adrenergic receptor binding|alpha2-adrenergic receptor activity|epinephrine binding|protein heterodimerization activity|protein homodimerization activity	g.chr4:3769634C>G	AY455666	CCDS47004.1	4p16.3	2013-10-22	2012-05-09		ENSG00000184160	ENSG00000184160		"GPCR / Class A : Adrenoceptors : alpha"	283	protein-coding gene	gene with protein product		104250	"adrenergic, alpha-2C-, receptor"	ADRA2L2, ADRA2RL2		1849485	Standard	NM_000683		Approved	ADRARL2	uc003ghm.3	P18825	OTTHUMG00000159830	ENST00000330055.5:c.1301C>G	4.37:g.3769634C>G	ENSP00000386069:p.Pro434Arg					ADRA2C_ENST00000509482.1_Intron	p.P434R	NM_000683.3	NP_000674.2	P18825	ADA2C_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.163)	1	1510	+			434					P35369|Q9HB49	Missense_Mutation	SNP	ENST00000330055.5	37	c.1301C>G	CCDS47004.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.992258	0.74703	.	.	ENSG00000184160	ENST00000330055	D	0.98807	-5.15	3.79	3.79	0.43588	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	D	0.99545	0.9837	H	0.99391	4.545	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97445	1.0024	9	0.87932	D	0	.	14.8908	0.70606	0.0:1.0:0.0:0.0	.	434	P18825	ADA2C_HUMAN	R	434	ENSP00000386069:P434R	ENSP00000386069:P434R	P	+	2	0	ADRA2C	3739432	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	6.853000	0.75435	1.938000	0.56188	0.650000	0.86243	CCG		0.597	ADRA2C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357607.1	NM_000683		3	43	0	0	0	1	0	3	43					G	3769634	C	G	3769634	3	3	231	1	0	0	0	0	1	0	0	0	339	652	23	5	1303	5	ADRA2C	4	3769634	Missense_Mutation	SNP	C	TCGA-HC-8258-01A-11D-2260-08		3769634	187384642	6	10749											
SMARCA5	8467	broad.mit.edu	37	chr4	144469277	144469277	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cagatttgactggtttcttaAgtccagaactgcaatggtga	11	13	10	7	0	1	4	0	2	1	2	2	4	2	4	1	2	2	2	1	2	3	3			TCGA-HC-8258-01A-11D-2260-08	TCGA-HC-8258-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	597e4011-ea99-4356-b1d9-8cfe35db7c3b	bf511245-3f97-49f0-9422-c646fa25dba0	g.chr4:144469277A>G	ENST00000283131.3	+	22	3431	c.2969A>G	c.(2968-2970)aAg>aGg	p.K990R		NM_003601.3	NP_003592.3	O60264	SMCA5_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 5	990	SANT 2. {ECO:0000255|PROSITE- ProRule:PRU00624}.				ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|CENP-A containing nucleosome assembly (GO:0034080)|chromatin remodeling (GO:0006338)|chromatin silencing at rDNA (GO:0000183)|DNA-templated transcription, initiation (GO:0006352)|double-strand break repair (GO:0006302)|nucleosome assembly (GO:0006334)|nucleosome positioning (GO:0016584)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	chromatin silencing complex (GO:0005677)|condensed chromosome (GO:0000793)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|NURF complex (GO:0016589)|RSF complex (GO:0031213)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)		EWSR1/SMARCA5(2)	endometrium(2)|kidney(2)|large_intestine(9)|lung(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	all_hematologic(180;0.158)					TGGTTTCTTAAGTCCAGAACT	0.373																																						ENST00000283131.3																		EWSR1/SMARCA5(2)	0				endometrium(2)|kidney(2)|large_intestine(9)|lung(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(2968-2970)aAg>aGg		SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 5							77	73	74					4																	144469277		2203	4300	6503	SO:0001583	missense	8467				CenH3-containing nucleosome assembly at centromere|nucleosome positioning|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	condensed chromosome|nucleolus|nucleoplasm|NURF complex|RSF complex	ATP binding|ATPase activity|DNA binding|helicase activity|nucleosome binding|protein binding	g.chr4:144469277A>G	AB010882	CCDS3761.1	4q31.1-q31.2	2011-04-20			ENSG00000153147	ENSG00000153147			11101	protein-coding gene	gene with protein product		603375				9730600	Standard	NM_003601		Approved	hSNF2H, hISWI, ISWI	uc003ijg.3	O60264	OTTHUMG00000161474	ENST00000283131.3:c.2969A>G	4.37:g.144469277A>G	ENSP00000283131:p.Lys990Arg						p.K990R	NM_003601.3	NP_003592.3	O60264	SMCA5_HUMAN			22	3431	+	all_hematologic(180;0.158)		990			SANT 2.			Missense_Mutation	SNP	ENST00000283131.3	37	c.2969A>G	CCDS3761.1	.	.	.	.	.	.	.	.	.	.	A	21.2	4.118453	0.77323	.	.	ENSG00000153147	ENST00000283131;ENST00000536484;ENST00000535006	D	0.92099	-2.97	5.93	5.93	0.95920	SANT domain, DNA binding (1);SLIDE (1);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	D	0.89897	0.6848	L	0.42008	1.315	0.58432	D	0.999998	B	0.23442	0.085	B	0.32090	0.14	D	0.86125	0.1571	10	0.26408	T	0.33	0.0047	16.3766	0.83401	1.0:0.0:0.0:0.0	.	990	O60264	SMCA5_HUMAN	R	990;933;933	ENSP00000283131:K990R	ENSP00000283131:K990R	K	+	2	0	SMARCA5	144688727	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.330000	0.96422	2.263000	0.75096	0.533000	0.62120	AAG		0.373	SMARCA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365077.3			2	15	0	0	0	1	0	2	15					G	144469277	A	G	144469277	3	3	231	1	0	0	0	0	1	0	0	0	14771	72	3	4	3055	4	SMARCA5	4	144469277	Missense_Mutation	SNP	A	TCGA-HC-8258-01A-11D-2260-08	140699643	144469277	46684999	7	10750											
LARP1	23367	broad.mit.edu	37	chr5	154181822	154181822	+	Frame_Shift_Del	DEL	G	G	-																															attacatgcgccggcacccaGggggggaccgcacaggcaac																										TCGA-HC-8258-01A-11D-2260-08	TCGA-HC-8258-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	597e4011-ea99-4356-b1d9-8cfe35db7c3b	bf511245-3f97-49f0-9422-c646fa25dba0	g.chr5:154181822delG	ENST00000336314.4	+	11	1765	c.1741delG	c.(1741-1743)gggfs	p.G582fs		NM_015315.3	NP_056130.2	Q6PKG0	LARP1_HUMAN	La ribonucleoprotein domain family, member 1	659					cell proliferation (GO:0008283)|positive regulation of macroautophagy (GO:0016239)|positive regulation of translation (GO:0045727)|TOR signaling (GO:0031929)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	eukaryotic initiation factor 4E binding (GO:0008190)|mRNA 3'-UTR binding (GO:0003730)|mRNA 5'-UTR binding (GO:0048027)|poly(A) RNA binding (GO:0044822)|RNA cap binding (GO:0000339)|translation activator activity (GO:0008494)|translation initiation factor binding (GO:0031369)			breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	33	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			CCGGCACCCAGGGGGGGACCG	0.547																																						ENST00000336314.4																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	33						c.(1741-1743)ggfs		La ribonucleoprotein domain family, member 1							79	76	77					5																	154181822		2203	4300	6503	SO:0001589	frameshift_variant	23367						protein binding|RNA binding	g.chr5:154181822delG	AB018274	CCDS4328.1	5q33.2	2014-02-12			ENSG00000155506	ENSG00000155506		"La ribonucleoprotein domain containing"	29531	protein-coding gene	gene with protein product		612059				9872452, 10878606	Standard	NM_015315		Approved	LARP, KIAA0731, MGC19556	uc003lvo.4	Q6PKG0	OTTHUMG00000130191	ENST00000336314.4:c.1741delG	5.37:g.154181822delG	ENSP00000336721:p.Gly582fs						p.G582fs	NM_015315.3	NP_056130.2	Q6PKG0	LARP1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)		11	1765	+	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	659					O94836|Q8N4M2|Q8NB73|Q9UFD7	Frame_Shift_Del	DEL	ENST00000336314.4	37	c.1741delG	CCDS4328.1																																																																																				0.547	LARP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252509.1	NM_033551		7	223						7	223	---	---	---	---	-	154181822	G	-	154181822	7	5	231	1	0	1	0	1	0	0	0	0	8628	1000	35	0	1783	0	LARP1	5	154181822	Frame_Shift_Del	DEL	G	TCGA-HC-8258-01A-11D-2260-08		154181822	26733438	8	10751											
ATF6B	1388	broad.mit.edu	37	chr6	32083517	32083517	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcagtgtgaatggcagaggtCagggatgattgaggtagagg	11	9	18	3	0	2	5	2	3	0	2	2	6	2	6	0	5	0	2	0	5	2	2			TCGA-HC-8258-01A-11D-2260-08	TCGA-HC-8258-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	597e4011-ea99-4356-b1d9-8cfe35db7c3b	bf511245-3f97-49f0-9422-c646fa25dba0	g.chr6:32083517C>T	ENST00000375203.3	-	18	2143	c.2111G>A	c.(2110-2112)tGa>tAa	p.*704*	ATF6B_ENST00000375201.4_Silent_p.*701*	NM_001136153.1|NM_004381.4	NP_001129625.1|NP_004372.3	Q99941	ATF6B_HUMAN	activating transcription factor 6 beta	0					response to unfolded protein (GO:0006986)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|prostate(2)|skin(1)|urinary_tract(1)	22						TGGCAGAGGTCAGGGATGATT	0.617																																						ENST00000375201.4																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|prostate(2)|skin(1)|urinary_tract(1)	22						c.(2101-2103)tGa>tAa		activating transcription factor 6 beta							65	73	70					6																	32083517		2203	4300	6503	SO:0001819	synonymous_variant	1388				response to unfolded protein|signal transduction	endoplasmic reticulum membrane|integral to membrane|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr6:32083517C>T		CCDS47408.1, CCDS4737.1	6p21.3	2013-01-10	2008-10-21	2008-10-21	ENSG00000213676	ENSG00000213676		"basic leucine zipper proteins"	2349	protein-coding gene	gene with protein product		600984	"cAMP responsive element binding protein-like 1"	CREBL1		11256944, 14973138	Standard	NM_004381		Approved	G13	uc003nzn.3	Q99941	OTTHUMG00000031296	ENST00000375203.3:c.2111G>A	6.37:g.32083517C>T						ATF6B_ENST00000375203.3_Silent_p.*704*	p.*701*			Q99941	ATF6B_HUMAN			18	2147	-			0					B0UYX6|Q13269|Q14343|Q14345|Q5SSW7|Q99635|Q99637|Q9H3V9|Q9H3W1|Q9NPL0	Silent	SNP	ENST00000375203.3	37	c.2102G>A	CCDS4737.1																																																																																				0.617	ATF6B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000076638.2			5	161	0	0	0	1	0	5	161					T	32083517	C	T	32083517	2	4	231	1	0	0	0	0	0	0	0	1	1085	837	29	3		3	ATF6B	6	32083517	Silent	SNP	C	TCGA-HC-8258-01A-11D-2260-08		32083517	139031550	9	10752											
DLC1	10395	broad.mit.edu	37	chr8	12957624	12957624	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccgactggctgctgctgctgCtggtctgcgtggagttggaa	4	11	16	10	2	1	0	0	0	1	0	1	3	1	2	1	4	5	6	1	4	1	1			TCGA-HC-8258-01A-11D-2260-08	TCGA-HC-8258-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	597e4011-ea99-4356-b1d9-8cfe35db7c3b	bf511245-3f97-49f0-9422-c646fa25dba0	g.chr8:12957624C>G	ENST00000276297.4	-	9	2631	c.2222G>C	c.(2221-2223)aGc>aCc	p.S741T	DLC1_ENST00000512044.2_Missense_Mutation_p.S338T|DLC1_ENST00000520226.1_Missense_Mutation_p.S230T|DLC1_ENST00000358919.2_Missense_Mutation_p.S304T	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN	DLC1 Rho GTPase activating protein	741	Focal adhesion-targeting (FAT).|Poly-Ser.				actin cytoskeleton organization (GO:0030036)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|focal adhesion assembly (GO:0048041)|forebrain development (GO:0030900)|heart morphogenesis (GO:0003007)|hindbrain morphogenesis (GO:0021575)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of stress fiber assembly (GO:0051497)|neural tube closure (GO:0001843)|positive regulation of execution phase of apoptosis (GO:1900119)|positive regulation of protein dephosphorylation (GO:0035307)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	lipid binding (GO:0008289)|Rho GTPase activator activity (GO:0005100)|SH2 domain binding (GO:0042169)			NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						GCTGCTGCTGCTGGTCTGCGT	0.627																																						ENST00000276297.4																			0				NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						c.(2221-2223)aGc>aCc		deleted in liver cancer 1							56	47	50					8																	12957624		2203	4300	6503	SO:0001583	missense	10395				actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding	g.chr8:12957624C>G	AF035119	CCDS5989.1, CCDS5990.1, CCDS5991.1, CCDS5991.2, CCDS55201.1	8p22	2014-06-20	2014-06-20		ENSG00000164741	ENSG00000164741		"Rho GTPase activating proteins", "StAR-related lipid transfer (START) domain containing"	2897	protein-coding gene	gene with protein product	"StAR-related lipid transfer (START) domain containing 12"	604258	"deleted in liver cancer 1"			9605766, 11214970	Standard	NM_182643		Approved	HP, ARHGAP7, STARD12, DLC-1, p122-RhoGAP	uc003wwm.2	Q96QB1	OTTHUMG00000090825	ENST00000276297.4:c.2222G>C	8.37:g.12957624C>G	ENSP00000276297:p.Ser741Thr					DLC1_ENST00000512044.2_Missense_Mutation_p.S338T|DLC1_ENST00000358919.2_Missense_Mutation_p.S304T|DLC1_ENST00000520226.1_Missense_Mutation_p.S230T	p.S741T	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN			9	2631	-			741			Poly-Ser.		B4DR10|B8PTI0|E9PDZ8|E9PF76|E9PGY9|O14868|O43199|Q7Z5R8|Q86UC6|Q9C0E0|Q9H7A2	Missense_Mutation	SNP	ENST00000276297.4	37	c.2222G>C	CCDS5989.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.320479	0.81469	.	.	ENSG00000164741	ENST00000276297;ENST00000358919;ENST00000512044;ENST00000520226	T;T;T;T	0.07688	3.42;3.19;3.19;3.17	4.57	4.57	0.56435	.	0.000000	0.85682	D	0.000000	T	0.31979	0.0814	M	0.80422	2.495	0.80722	D	1	D;B;D	0.65815	0.995;0.103;0.99	P;B;D	0.72982	0.795;0.132;0.979	T	0.09975	-1.0650	10	0.66056	D	0.02	.	17.9274	0.88987	0.0:1.0:0.0:0.0	.	741;338;304	Q96QB1;E9PDZ8;Q96QB1-1	RHG07_HUMAN;.;.	T	741;304;338;230	ENSP00000276297:S741T;ENSP00000351797:S304T;ENSP00000422595:S338T;ENSP00000428028:S230T	ENSP00000276297:S741T	S	-	2	0	DLC1	13001995	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.462000	0.80851	2.527000	0.85204	0.561000	0.74099	AGC		0.627	DLC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207632.2	NM_182643, NM_006094		4	87	0	0	0	1	0	4	87					G	12957624	C	G	12957624	3	3	231	1	0	0	0	0	1	0	0	0	4550	797	28	5	2404	5	DLC1	8	12957624	Missense_Mutation	SNP	C	TCGA-HC-8258-01A-11D-2260-08		12957624	133406398	10	10753											
PKHD1L1	93035	broad.mit.edu	37	chr8	110437366	110437366	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctacagaggaaataattggcCaggcgagtcaaaaattcata	17	8	9	7	1	2	1	2	0	0	1	2	3	2	2	1	3	1	0	1	3	6	5			TCGA-HC-8258-01A-11D-2260-08	TCGA-HC-8258-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	597e4011-ea99-4356-b1d9-8cfe35db7c3b	bf511245-3f97-49f0-9422-c646fa25dba0	g.chr8:110437366C>A	ENST00000378402.5	+	24	2854	c.2750C>A	c.(2749-2751)cCa>cAa	p.P917Q		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	917					immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			AATAATTGGCCAGGCGAGTCA	0.338										HNSCC(38;0.096)																												ENST00000378402.5																			0				NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263						c.(2749-2751)cCa>cAa		polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1							50	49	49					8																	110437366		1831	4089	5920	SO:0001583	missense	93035				immune response	cytosol|extracellular space|integral to membrane	receptor activity	g.chr8:110437366C>A	AY219181	CCDS47911.1	8q23	2003-03-28			ENSG00000205038	ENSG00000205038			20313	protein-coding gene	gene with protein product		607843				12620974	Standard	NM_177531		Approved		uc003yne.3	Q86WI1	OTTHUMG00000164934	ENST00000378402.5:c.2750C>A	8.37:g.110437366C>A	ENSP00000367655:p.Pro917Gln	HNSCC(38;0.096)					p.P917Q	NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)		24	2854	+			917					Q567P2|Q9UF27	Missense_Mutation	SNP	ENST00000378402.5	37	c.2750C>A	CCDS47911.1	.	.	.	.	.	.	.	.	.	.	C	17.35	3.367472	0.61513	.	.	ENSG00000205038	ENST00000378402	D	0.85629	-2.01	5.16	5.16	0.70880	.	0.307930	0.27749	N	0.018016	D	0.87665	0.6234	L	0.50333	1.59	0.27431	N	0.954004	D	0.71674	0.998	P	0.62382	0.901	T	0.79422	-0.1810	10	0.15499	T	0.54	.	14.4958	0.67685	0.0:1.0:0.0:0.0	.	917	Q86WI1	PKHL1_HUMAN	Q	917	ENSP00000367655:P917Q	ENSP00000367655:P917Q	P	+	2	0	PKHD1L1	110506542	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.814000	0.55643	2.547000	0.85894	0.557000	0.71058	CCA		0.338	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381017.1	NM_177531		2	6	1	0	1	1	1	2	6					A	110437366	C	A	110437366	3	1	231	1	0	0	0	0	1	0	0	0	11972	594	21	5	2844	5	PKHD1L1	8	110437366	Missense_Mutation	SNP	C	TCGA-HC-8258-01A-11D-2260-08	97479742	110437366	35926656	11	10754											
ENTPD7	57089	broad.mit.edu	37	chr10	101464346	101464346	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ataccttctgcggctacgccGaattcaccaccgacaaacac	12	7	6	16	4	2	0	1	0	1	0	2	2	2	0	4	1	4	1	4	1	4	4			TCGA-HC-8258-01A-11D-2260-08	TCGA-HC-8258-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	597e4011-ea99-4356-b1d9-8cfe35db7c3b	bf511245-3f97-49f0-9422-c646fa25dba0	g.chr10:101464346G>A	ENST00000370489.4	+	13	1899	c.1721G>A	c.(1720-1722)cGa>cAa	p.R574Q	CUTC_ENST00000493385.1_Intron	NM_020354.3	NP_065087.1	Q9NQZ7	ENTP7_HUMAN	ectonucleoside triphosphate diphosphohydrolase 7	574						cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|urinary_tract(1)	18		Colorectal(252;0.234)		Epithelial(162;4.72e-10)|all cancers(201;3.75e-08)		CGGCTACGCCGAATTCACCAC	0.547																																						ENST00000370489.4																			0				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|urinary_tract(1)	18						c.(1720-1722)cGa>cAa		ectonucleoside triphosphate diphosphohydrolase 7							114	93	101					10																	101464346		2203	4300	6503	SO:0001583	missense	57089					cytoplasmic vesicle membrane|integral to membrane	hydrolase activity	g.chr10:101464346G>A	AF269255	CCDS7480.1	10q23-q24	2004-07-01			ENSG00000198018	ENSG00000198018			19745	protein-coding gene	gene with protein product						11278936	Standard	NM_020354		Approved	LALP1, FLJ30978	uc001kqa.4	Q9NQZ7	OTTHUMG00000018888	ENST00000370489.4:c.1721G>A	10.37:g.101464346G>A	ENSP00000359520:p.Arg574Gln					CUTC_ENST00000493385.1_Intron	p.R574Q	NM_020354.3	NP_065087.1	Q9NQZ7	ENTP7_HUMAN		Epithelial(162;4.72e-10)|all cancers(201;3.75e-08)	13	1899	+		Colorectal(252;0.234)	574					B2RB83|B3KP21|D3DR64	Missense_Mutation	SNP	ENST00000370489.4	37	c.1721G>A	CCDS7480.1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.502855	0.85176	.	.	ENSG00000198018	ENST00000370489	T	0.15834	2.39	5.0	5.0	0.66597	.	0.000000	0.85682	D	0.000000	T	0.41143	0.1146	M	0.65975	2.015	0.80722	D	1	D	0.89917	1.0	D	0.67231	0.95	T	0.23797	-1.0178	10	0.66056	D	0.02	-9.2121	18.4762	0.90793	0.0:0.0:1.0:0.0	.	574	Q9NQZ7	ENTP7_HUMAN	Q	574	ENSP00000359520:R574Q	ENSP00000359520:R574Q	R	+	2	0	ENTPD7	101454336	1.000000	0.71417	1.000000	0.80357	0.796000	0.44982	7.765000	0.85310	2.619000	0.88677	0.561000	0.74099	CGA		0.547	ENTPD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049809.2	NM_020354		5	44	0	0	0	1	0	5	44					A	101464346	G	A	101464346	3	1	231	1	0	0	0	0	1	0	0	0	5144	1058	37	2	1767	2	ENTPD7	10	101464346	Missense_Mutation	SNP	G	TCGA-HC-8258-01A-11D-2260-08		101464346	34070401	12	10755											
OR4C6	219432	broad.mit.edu	37	chr11	55432916	55432916	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccaagagcactaccatctctCtcaaaggctgcctcacccag	11	7	6	17	0	3	1	2	0	2	1	5	1	3	1	4	1	3	2	4	1	3	1	rs200621615		TCGA-HC-8258-01A-11D-2260-08	TCGA-HC-8258-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	597e4011-ea99-4356-b1d9-8cfe35db7c3b	bf511245-3f97-49f0-9422-c646fa25dba0	g.chr11:55432916C>G	ENST00000314259.3	+	1	303	c.274C>G	c.(274-276)Ctc>Gtc	p.L92V		NM_001004704.1	NP_001004704.1	Q8NH72	OR4C6_HUMAN	olfactory receptor, family 4, subfamily C, member 6	92						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|lung(49)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	71						TACCATCTCTCTCAAAGGCTG	0.502																																						ENST00000314259.3																			0				breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|lung(49)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	71						c.(274-276)Ctc>Gtc		olfactory receptor, family 4, subfamily C, member 6							144	130	135					11																	55432916		2200	4296	6496	SO:0001583	missense	219432				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55432916C>G	CR593785	CCDS31506.1	11q11	2012-08-09			ENSG00000181903	ENSG00000181903		"GPCR / Class A : Olfactory receptors"	14743	protein-coding gene	gene with protein product							Standard	NM_001004704		Approved		uc010rik.2	Q8NH72	OTTHUMG00000166800	ENST00000314259.3:c.274C>G	11.37:g.55432916C>G	ENSP00000324769:p.Leu92Val						p.L92V	NM_001004704.1	NP_001004704.1	Q8NH72	OR4C6_HUMAN			1	303	+			92					B2RP11|Q6IFD2	Missense_Mutation	SNP	ENST00000314259.3	37	c.274C>G	CCDS31506.1	.	.	.	.	.	.	.	.	.	.	C	5.154	0.214046	0.09810	.	.	ENSG00000181903	ENST00000314259	T	0.01981	4.52	3.83	-1.64	0.08318	GPCR, rhodopsin-like superfamily (1);	0.302718	0.18248	N	0.147040	T	0.01730	0.0055	N	0.25380	0.74	0.09310	N	1	P	0.42203	0.773	B	0.41332	0.354	T	0.48080	-0.9066	10	0.54805	T	0.06	.	4.625	0.12474	0.0:0.1874:0.3185:0.4942	.	92	Q8NH72	OR4C6_HUMAN	V	92	ENSP00000324769:L92V	ENSP00000324769:L92V	L	+	1	0	OR4C6	55189492	0.000000	0.05858	0.197000	0.23402	0.011000	0.07611	0.239000	0.18023	0.079000	0.16929	0.543000	0.68304	CTC		0.502	OR4C6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391504.1	NM_001004704		6	52	0	0	0	1	0	6	52					G	55432916	C	G	55432916	3	3	231	1	0	0	0	0	1	0	0	0	11052	913	32	5	276	5	OR4C6	11	55432916	Missense_Mutation	SNP	C	TCGA-HC-8258-01A-11D-2260-08		55432916	79573600	13	10756											
GPR44	11251	broad.mit.edu	37	chr11	60620871	60620871	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catgttgagaaagaagatggAggagtgcagtttgcagaagg	14	8	16	3	0	0	4	0	1	0	4	0	7	0	6	0	3	2	4	0	3	3	2			TCGA-HC-8258-01A-11D-2260-08	TCGA-HC-8258-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	597e4011-ea99-4356-b1d9-8cfe35db7c3b	bf511245-3f97-49f0-9422-c646fa25dba0	g.chr11:60620871A>G	ENST00000332539.4	-	2	436	c.325T>C	c.(325-327)Tcc>Ccc	p.S109P	RP11-804A23.4_ENST00000538705.1_RNA	NM_004778.2	NP_004769.2	Q9Y5Y4	PD2R2_HUMAN	prostaglandin D2 receptor 2	109					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|calcium-mediated signaling (GO:0019722)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|prostaglandin D receptor activity (GO:0004956)|prostaglandin F receptor activity (GO:0004958)|prostaglandin J receptor activity (GO:0001785)									Indomethacin(DB00328)|Sulindac(DB00605)	AAGAAGATGGAGGAGTGCAGT	0.627																																						ENST00000332539.4																			0											c.(325-327)Tcc>Ccc		prostaglandin D2 receptor 2							29	25	27					11																	60620871		2196	4295	6491	SO:0001583	missense	11251				immune response	integral to plasma membrane	N-formyl peptide receptor activity	g.chr11:60620871A>G	AF118265	CCDS7994.1	11q12-q13.3	2012-08-08	2011-11-11	2011-11-11		ENSG00000183134		"CD molecules", "GPCR / Class A : Prostanoid receptors"	4502	protein-coding gene	gene with protein product	"chemoattractant receptor homologous molecule expressed on T helper type 2 cells"	604837	"G protein-coupled receptor 44"	GPR44		10036181	Standard	NM_004778		Approved	CRTH2, CD294, DP2	uc001nqc.2	Q9Y5Y4		ENST00000332539.4:c.325T>C	11.37:g.60620871A>G	ENSP00000332812:p.Ser109Pro						p.S109P	NM_004778.2	NP_004769.2	Q9Y5Y4	GPR44_HUMAN			2	436	-			109					O94765|Q4QRI6	Missense_Mutation	SNP	ENST00000332539.4	37	c.325T>C	CCDS7994.1	.	.	.	.	.	.	.	.	.	.	A	19.65	3.867781	0.72065	.	.	ENSG00000183134	ENST00000332539	T	0.38722	1.12	5.2	5.2	0.72013	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.67144	0.2862	M	0.87617	2.895	0.46028	D	0.99882	D	0.89917	1.0	D	0.91635	0.999	T	0.70008	-0.4990	10	0.37606	T	0.19	.	13.0024	0.58683	1.0:0.0:0.0:0.0	.	109	Q9Y5Y4	GPR44_HUMAN	P	109	ENSP00000332812:S109P	ENSP00000332812:S109P	S	-	1	0	GPR44	60377447	0.873000	0.30073	0.997000	0.53966	0.892000	0.51952	1.396000	0.34531	1.973000	0.57446	0.459000	0.35465	TCC		0.627	PTGDR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396328.1	NM_004778		2	11	0	0	0	1	0	2	11					G	60620871	A	G	60620871	3	3	231	1	0	0	0	0	1	0	0	0	6695	304	11	4	866	4	GPR44	11	60620871	Missense_Mutation	SNP	A	TCGA-HC-8258-01A-11D-2260-08	5187955	60620871	74385645	14	10757											
CADM1	23705	broad.mit.edu	37	chr11	115047194	115047194	+	Nonstop_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attgaaacaaaaaggctgatCtagatgaagtactctttctt	15	13	7	6	0	3	4	0	3	3	1	3	4	3	4	0	1	2	2	0	1	6	5			TCGA-HC-8258-01A-11D-2260-08	TCGA-HC-8258-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	597e4011-ea99-4356-b1d9-8cfe35db7c3b	bf511245-3f97-49f0-9422-c646fa25dba0	g.chr11:115047194C>A	ENST00000452722.3	-	10	1349	c.1329G>T	c.(1327-1329)taG>taT	p.*443Y	CADM1_ENST00000537140.1_Intron|CADM1_ENST00000542447.2_Nonstop_Mutation_p.*415Y|CADM1_ENST00000536727.1_Nonstop_Mutation_p.*444Y|CADM1_ENST00000331581.6_Nonstop_Mutation_p.*472Y|CADM1_ENST00000537058.1_Nonstop_Mutation_p.*454Y	NM_014333.3	NP_055148.3			cell adhesion molecule 1											cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(9)|ovary(2)|skin(1)	32	all_hematologic(175;0.0628)	all_cancers(61;2.98e-14)|all_epithelial(67;2.64e-08)|all_hematologic(158;0.000154)|Melanoma(852;0.000952)|Acute lymphoblastic leukemia(157;0.00101)|Breast(348;0.0102)|Medulloblastoma(222;0.0429)|Prostate(24;0.145)|all_neural(223;0.237)		BRCA - Breast invasive adenocarcinoma(274;5.01e-06)|Epithelial(105;0.000305)|all cancers(92;0.00303)		AAAGGCTGATCTAGATGAAGT	0.418																																						ENST00000542447.2																			0				cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(9)|ovary(2)|skin(1)	32						c.(1243-1245)taG>taT		cell adhesion molecule 1							259	239	246					11																	115047194		2201	4296	6497	SO:0001578	stop_lost	23705				adherens junction organization|apoptosis|cell differentiation|cell junction assembly|cell recognition|detection of stimulus|heterophilic cell-cell adhesion|homophilic cell adhesion|multicellular organismal development|positive regulation of cytokine secretion|spermatogenesis|susceptibility to natural killer cell mediated cytotoxicity	basolateral plasma membrane|cell-cell junction|integral to membrane	PDZ domain binding|protein C-terminus binding|protein homodimerization activity|receptor binding	g.chr11:115047194C>A	AB017563	CCDS8373.1, CCDS53711.1, CCDS73397.1, CCDS73398.1, CCDS73399.1	11q23.2	2013-01-29	2007-02-07	2007-02-07	ENSG00000182985	ENSG00000182985		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5951	protein-coding gene	gene with protein product	"nectin-like 2"	605686	"tumor suppressor in lung cancer 1", "immunoglobulin superfamily, member 4"	TSLC1, IGSF4		10610705	Standard	NM_014333		Approved	NECL2, ST17, BL2, SYNCAM, IGSF4A, Necl-2, SYNCAM1, RA175	uc001ppi.4	Q9BY67	OTTHUMG00000168202	ENST00000452722.3:c.1329G>T	11.37:g.115047194C>A						CADM1_ENST00000331581.6_Nonstop_Mutation_p.*472Y|CADM1_ENST00000452722.2_Nonstop_Mutation_p.*443Y|CADM1_ENST00000536727.1_Nonstop_Mutation_p.*444Y|CADM1_ENST00000537140.1_Intron|CADM1_ENST00000537058.1_Nonstop_Mutation_p.*454Y	p.*415Y	NM_001098517.1	NP_001091987.1	Q9BY67	CADM1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.01e-06)|Epithelial(105;0.000305)|all cancers(92;0.00303)	9	1373	-	all_hematologic(175;0.0628)	all_cancers(61;2.98e-14)|all_epithelial(67;2.64e-08)|all_hematologic(158;0.000154)|Melanoma(852;0.000952)|Acute lymphoblastic leukemia(157;0.00101)|Breast(348;0.0102)|Medulloblastoma(222;0.0429)|Prostate(24;0.145)|all_neural(223;0.237)	0						Nonstop_Mutation	SNP	ENST00000452722.3	37	c.1245G>T	CCDS8373.1	.	.	.	.	.	.	.	.	.	.	C	13.40	2.224554	0.39300	.	.	ENSG00000182985	ENST00000542447;ENST00000452722;ENST00000537058;ENST00000536727;ENST00000404468;ENST00000331581;ENST00000541325	.	.	.	5.36	5.36	0.76844	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.277	0.94036	0.0:1.0:0.0:0.0	.	.	.	.	Y	415;443;454;444;374;472;128	.	.	X	-	3	2	CADM1	114552404	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.866000	0.48420	2.782000	0.95742	0.655000	0.94253	TAG		0.418	CADM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000398753.2	NM_014333		7	74	1	0	6.40141e-05	1	7.73504e-05	7	74					A	115047194	C	A	115047194	4	1	231	1	0	0	0	0	0	0	0	0	2566	924	32	5	3	5	CADM1	11	115047194	Nonstop_Mutation	SNP	C	TCGA-HC-8258-01A-11D-2260-08	54426323	115047194	19959322	15	10758											
PDZRN4	29951	broad.mit.edu	37	chr12	41966530	41966530	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgacctgtattactcaagcaGcacaattgaatgcaatcaag	15	10	7	9	0	2	2	2	2	0	0	2	2	2	2	1	0	4	4	1	0	7	3			TCGA-HC-8258-01A-11D-2260-08	TCGA-HC-8258-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	597e4011-ea99-4356-b1d9-8cfe35db7c3b	bf511245-3f97-49f0-9422-c646fa25dba0	g.chr12:41966530G>A	ENST00000402685.2	+	10	1957	c.1949G>A	c.(1948-1950)aGc>aAc	p.S650N	PDZRN4_ENST00000539469.2_Missense_Mutation_p.S392N|PDZRN4_ENST00000298919.7_Missense_Mutation_p.S390N	NM_001164595.1	NP_001158067.1	Q6ZMN7	PZRN4_HUMAN	PDZ domain containing ring finger 4	650				S -> G (in Ref. 1 and 2; BAD18688). {ECO:0000305}.			ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	77	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)				TACTCAAGCAGCACAATTGAA	0.438																																						ENST00000298919.7																			0				breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	77						c.(1168-1170)aGc>aAc		PDZ domain containing ring finger 4							119	108	112					12																	41966530		2203	4300	6503	SO:0001583	missense	29951						ubiquitin-protein ligase activity|zinc ion binding	g.chr12:41966530G>A	AK094690	CCDS8739.1, CCDS53777.1	12q12	2008-08-14	2008-08-14			ENSG00000165966		"RING-type (C3HC4) zinc fingers"	30552	protein-coding gene	gene with protein product	"similar to semaF cytoplasmic domain associated protein 3"	609730				11230166, 15010864	Standard	NM_013377		Approved	DKFZp434B0417, LNX4, FLJ33777, IMAGE5767589	uc010skn.2	Q6ZMN7		ENST00000402685.2:c.1949G>A	12.37:g.41966530G>A	ENSP00000384197:p.Ser650Asn					PDZRN4_ENST00000402685.2_Missense_Mutation_p.S650N|PDZRN4_ENST00000539469.2_Missense_Mutation_p.S392N	p.S390N			Q6ZMN7	PZRN4_HUMAN			10	1557	+	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)	650					Q52LY3|Q52LY4|Q6N052|Q8IUU1|Q9NTP7	Missense_Mutation	SNP	ENST00000402685.2	37	c.1169G>A	CCDS53777.1	.	.	.	.	.	.	.	.	.	.	G	10.83	1.460724	0.26248	.	.	ENSG00000165966	ENST00000402685;ENST00000539469;ENST00000298919	T;T;T	0.72942	-0.7;3.77;3.77	4.49	4.49	0.54785	.	0.203086	0.43579	D	0.000548	T	0.71151	0.3306	M	0.69823	2.125	0.58432	D	0.999998	P;B;B	0.40144	0.704;0.008;0.144	B;B;B	0.38378	0.272;0.055;0.224	T	0.75422	-0.3323	10	0.45353	T	0.12	-15.3968	18.0664	0.89392	0.0:0.0:1.0:0.0	.	650;390;392	Q6ZMN7;Q6ZMN7-4;Q6ZMN7-2	PZRN4_HUMAN;.;.	N	650;392;390	ENSP00000384197:S650N;ENSP00000439990:S392N;ENSP00000298919:S390N	ENSP00000298919:S390N	S	+	2	0	PDZRN4	40252797	1.000000	0.71417	0.997000	0.53966	0.487000	0.33371	6.602000	0.74141	2.455000	0.83008	0.650000	0.86243	AGC		0.438	PDZRN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403701.1	NM_013377		3	65	0	0	0	1	0	3	65					A	41966530	G	A	41966530	3	1	231	1	0	0	0	0	1	0	0	0	11710	971	34	3	2060	3	PDZRN4	12	41966530	Missense_Mutation	SNP	G	TCGA-HC-8258-01A-11D-2260-08		41966530	91885365	16	10759											
FAM70B	348013	broad.mit.edu	37	chr13	114514803	114514803	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cagctctggctctgggcttcCcggccaggctccaccgtgct	3	9	12	17	2	2	0	0	0	2	0	4	0	4	0	4	4	2	5	4	4	0	1			TCGA-HC-8258-01A-11D-2260-08	TCGA-HC-8258-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	597e4011-ea99-4356-b1d9-8cfe35db7c3b	bf511245-3f97-49f0-9422-c646fa25dba0	g.chr13:114514803C>T	ENST00000375353.3	+	9	935	c.908C>T	c.(907-909)cCc>cTc	p.P303L	TMEM255B_ENST00000467169.1_3'UTR	NM_182614.2	NP_872420.1	Q8WV15	T255B_HUMAN	transmembrane protein 255B	303	Pro-rich.					integral component of membrane (GO:0016021)											TCTGGGCTTCCCGGCCAGGCT	0.642																																						ENST00000375353.3																			0											c.(907-909)cCc>cTc		transmembrane protein 255B							58	70	66					13																	114514803		2203	4300	6503	SO:0001583	missense	348013							g.chr13:114514803C>T	BC018995	CCDS45071.1	13q34	2012-11-30	2012-11-30	2012-11-30	ENSG00000184497	ENSG00000184497			28297	protein-coding gene	gene with protein product			"family with sequence similarity 70, member B"	FAM70B		12477932	Standard	NM_182614		Approved	MGC20579	uc001vuh.3	Q8WV15	OTTHUMG00000017398	ENST00000375353.3:c.908C>T	13.37:g.114514803C>T	ENSP00000364502:p.Pro303Leu					TMEM255B_ENST00000467169.1_3'UTR	p.P303L	NM_182614.2	NP_872420.1					9	935	+									Missense_Mutation	SNP	ENST00000375353.3	37	c.908C>T	CCDS45071.1	.	.	.	.	.	.	.	.	.	.	C	12.51	1.958626	0.34565	.	.	ENSG00000184497	ENST00000375353	T	0.49139	0.79	4.72	2.82	0.32997	.	.	.	.	.	T	0.47637	0.1456	L	0.58101	1.795	0.09310	N	1	P	0.41848	0.763	B	0.42422	0.387	T	0.35847	-0.9772	9	0.51188	T	0.08	-4.932	11.8754	0.52544	0.3156:0.6844:0.0:0.0	.	303	Q8WV15	FA70B_HUMAN	L	303	ENSP00000364502:P303L	ENSP00000364502:P303L	P	+	2	0	FAM70B	113599140	0.000000	0.05858	0.002000	0.10522	0.002000	0.02628	0.665000	0.25083	0.944000	0.37579	0.591000	0.81541	CCC		0.642	TMEM255B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045953.4	NM_182614		3	129	0	0	0	1	0	3	129					T	114514803	C	T	114514803	3	4	231	1	0	0	0	0	1	0	0	0	5606	623	22	3	942	3	FAM70B	13	114514803	Missense_Mutation	SNP	C	TCGA-HC-8258-01A-11D-2260-08		114514803	655075	17	10760											
TSC2	7249	broad.mit.edu	37	chr16	2111921	2111921	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtccatgacctgttgaccaCggtggaggagctgtgtgacc	7	9	14	11	2	0	3	0	3	0	0	1	5	1	5	4	3	1	2	4	3	0	1	rs137854007		TCGA-HC-8258-01A-11D-2260-08	TCGA-HC-8258-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	597e4011-ea99-4356-b1d9-8cfe35db7c3b	bf511245-3f97-49f0-9422-c646fa25dba0	g.chr16:2111921C>A	ENST00000219476.3	+	12	1799	c.1169C>A	c.(1168-1170)aCg>aAg	p.T390K	TSC2_ENST00000568454.1_Missense_Mutation_p.T401K|TSC2_ENST00000439673.2_Missense_Mutation_p.T353K|TSC2_ENST00000382538.6_Missense_Mutation_p.T341K|TSC2_ENST00000353929.4_Missense_Mutation_p.T390K|TSC2_ENST00000350773.4_Missense_Mutation_p.T390K|TSC2_ENST00000401874.2_Missense_Mutation_p.T390K	NM_000548.3	NP_000539.2	P49815	TSC2_HUMAN	tuberous sclerosis 2	390	Required for interaction with TSC1.				acute-phase response (GO:0006953)|cell cycle arrest (GO:0007050)|cell projection organization (GO:0030030)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of TOR signaling (GO:0032007)|negative regulation of Wnt signaling pathway (GO:0030178)|neural tube closure (GO:0001843)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive chemotaxis (GO:0050918)|positive regulation of Ras GTPase activity (GO:0032320)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|protein import into nucleus (GO:0006606)|protein kinase B signaling (GO:0043491)|protein localization (GO:0008104)|regulation of cell cycle (GO:0051726)|regulation of endocytosis (GO:0030100)|regulation of insulin receptor signaling pathway (GO:0046626)|response to hypoxia (GO:0001666)|vesicle-mediated transport (GO:0016192)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|TSC1-TSC2 complex (GO:0033596)	GTPase activator activity (GO:0005096)|phosphatase binding (GO:0019902)|protein homodimerization activity (GO:0042803)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(3)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|soft_tissue(1)	56		Hepatocellular(780;0.0202)				CTGTTGACCACGGTGGAGGAG	0.587			"D, Mis, N, F, S"			"hamartoma, renal cell"			Tuberous Sclerosis																													ENST00000219476.3			yes	Rec		Tuberous sclerosis 2	16	16p13.3	7249	"D, Mis, N, F, S"	tuberous sclerosis 2 gene			"E, O"		"hamartoma, renal cell"			0				NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(3)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|soft_tissue(1)	56						c.(1168-1170)aCg>aAg		tuberous sclerosis 2							126	106	113					16																	2111921		2198	4300	6498	SO:0001583	missense	7249	Tuberous Sclerosis	Familial Cancer Database	TS, Tuberous Sclerosis Complex, TSC, Bourneville-Pringle disease	cell cycle arrest|endocytosis|heart development|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|negative regulation of cell size|negative regulation of phosphatidylinositol 3-kinase cascade|negative regulation of protein kinase B signaling cascade|negative regulation of TOR signaling cascade|negative regulation of Wnt receptor signaling pathway|nerve growth factor receptor signaling pathway|neural tube closure|phosphatidylinositol-mediated signaling|positive chemotaxis|protein import into nucleus|protein kinase B signaling cascade|regulation of endocytosis|regulation of insulin receptor signaling pathway|regulation of small GTPase mediated signal transduction	Golgi apparatus|nucleus|perinuclear region of cytoplasm|TSC1-TSC2 complex	GTPase activator activity|protein homodimerization activity	g.chr16:2111921C>A	AB014460	CCDS10458.1, CCDS45384.1, CCDS58408.1	16p13.3	2014-09-17			ENSG00000103197	ENSG00000103197			12363	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 160"	191092		TSC4		1303246, 7558029	Standard	NM_001077183		Approved	tuberin, LAM, PPP1R160	uc002con.3	P49815	OTTHUMG00000128745	ENST00000219476.3:c.1169C>A	16.37:g.2111921C>A	ENSP00000219476:p.Thr390Lys					TSC2_ENST00000401874.2_Missense_Mutation_p.T390K|TSC2_ENST00000353929.4_Missense_Mutation_p.T390K|TSC2_ENST00000568454.1_Missense_Mutation_p.T401K|TSC2_ENST00000350773.4_Missense_Mutation_p.T390K|TSC2_ENST00000439673.2_Missense_Mutation_p.T353K|TSC2_ENST00000382538.6_Missense_Mutation_p.T341K	p.T390K	NM_000548.3	NP_000539.2	P49815	TSC2_HUMAN			12	1799	+		Hepatocellular(780;0.0202)	390			Required for interaction with TSC1.		A7E2E2|B4DIL8|B4DIQ7|B4DRN2|B7Z2B8|C9J378|O75275|Q4LE71|Q8TAZ1	Missense_Mutation	SNP	ENST00000219476.3	37	c.1169C>A	CCDS10458.1	.	.	.	.	.	.	.	.	.	.	.	27.7	4.854839	0.91355	.	.	ENSG00000103197	ENST00000219476;ENST00000401874;ENST00000353929;ENST00000439673;ENST00000382538;ENST00000350773	T;T;T;T;T;T	0.80214	-1.35;-1.35;-1.35;-1.35;-1.35;-1.35	5.29	5.29	0.74685	Armadillo-like helical (1);Armadillo-type fold (1);Tuberin, N-terminal (1);	0.050707	0.85682	D	0.000000	D	0.87386	0.6164	L	0.56769	1.78	0.80722	D	1	D;D;D;D;D;D	0.76494	0.99;0.994;0.986;0.997;0.998;0.999	D;D;P;D;D;D	0.87578	0.949;0.954;0.653;0.975;0.979;0.998	D	0.83516	0.0083	10	0.17832	T	0.49	-14.9829	18.9134	0.92494	0.0:1.0:0.0:0.0	.	341;353;390;390;390;390	B4DIL8;P49815-6;P49815-4;P49815-3;P49815-5;P49815	.;.;.;.;.;TSC2_HUMAN	K	390;390;390;353;341;390	ENSP00000219476:T390K;ENSP00000384468:T390K;ENSP00000248099:T390K;ENSP00000399232:T353K;ENSP00000371978:T341K;ENSP00000344383:T390K	ENSP00000219476:T390K	T	+	2	0	TSC2	2051922	1.000000	0.71417	0.994000	0.49952	0.929000	0.56500	5.436000	0.66538	2.471000	0.83476	0.561000	0.74099	ACG		0.587	TSC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250657.2	NM_000548		3	126	1	0	0.00909568	1	0.010551	3	126					A	2111921	C	A	2111921	3	1	231	1	0	0	0	0	1	0	0	0	16603	536	19	5	1211	5	TSC2	16	2111921	Missense_Mutation	SNP	C	TCGA-HC-8258-01A-11D-2260-08		2111921	88242832	18	10761											
TRPV2	51393	broad.mit.edu	37	chr17	16335412	16335412	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gtacaggggtatcctggaagCctccttggagctcttcaaat	9	11	11	10	0	2	0	1	0	1	0	4	2	4	2	3	4	3	3	3	4	4	4			TCGA-HC-8258-01A-11D-2260-08	TCGA-HC-8258-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	597e4011-ea99-4356-b1d9-8cfe35db7c3b	bf511245-3f97-49f0-9422-c646fa25dba0	g.chr17:16335412C>A	ENST00000338560.7	+	12	2186	c.1787C>A	c.(1786-1788)gCc>gAc	p.A596D	TRPV2_ENST00000583241.1_3'UTR|TRPV2_ENST00000577397.1_Missense_Mutation_p.A166D	NM_016113.4	NP_057197.2	Q9Y5S1	TRPV2_HUMAN	transient receptor potential cation channel, subfamily V, member 2	596					calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|positive regulation of axon extension (GO:0045773)|positive regulation of calcium ion import (GO:0090280)|response to heat (GO:0009408)|response to temperature stimulus (GO:0009266)|sensory perception (GO:0007600)|transmembrane transport (GO:0055085)|transport (GO:0006810)	axonal growth cone (GO:0044295)|cell body (GO:0044297)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endomembrane system (GO:0012505)|growth cone membrane (GO:0032584)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)|ion channel activity (GO:0005216)|ion transmembrane transporter activity (GO:0015075)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|stomach(3)	28				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)		ATCCTGGAAGCCTCCTTGGAG	0.632																																						ENST00000338560.7																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|stomach(3)	28						c.(1786-1788)gCc>gAc		transient receptor potential cation channel, subfamily V, member 2							80	80	80					17																	16335412		2203	4300	6503	SO:0001583	missense	51393				sensory perception	integral to plasma membrane|melanosome	calcium channel activity	g.chr17:16335412C>A	AF129112	CCDS32576.1	17p11.2	2013-01-10			ENSG00000187688	ENSG00000187688		"Voltage-gated ion channels / Transient receptor potential cation channels", "Ankyrin repeat domain containing"	18082	protein-coding gene	gene with protein product		606676				10201375, 16382100	Standard	NM_016113		Approved	VRL, VRL-1, VRL1	uc002gpy.3	Q9Y5S1	OTTHUMG00000058989	ENST00000338560.7:c.1787C>A	17.37:g.16335412C>A	ENSP00000342222:p.Ala596Asp					TRPV2_ENST00000577397.1_Missense_Mutation_p.A166D|TRPV2_ENST00000583241.1_3'UTR	p.A596D	NM_016113.4	NP_057197.2	Q9Y5S1	TRPV2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)	12	2186	+			596					A6NML2|A8K0Z0|Q9Y670	Missense_Mutation	SNP	ENST00000338560.7	37	c.1787C>A	CCDS32576.1	.	.	.	.	.	.	.	.	.	.	C	11.31	1.599944	0.28534	.	.	ENSG00000187688	ENST00000338560	D	0.99143	-5.48	4.81	4.81	0.61882	Ion transport (1);	0.163418	0.56097	D	0.000031	D	0.98868	0.9617	M	0.73962	2.25	0.45914	D	0.99875	D	0.53151	0.958	P	0.60473	0.875	D	0.99035	1.0822	10	0.87932	D	0	-44.8674	10.5267	0.44952	0.0:0.8992:0.0:0.1008	.	596	Q9Y5S1	TRPV2_HUMAN	D	596	ENSP00000342222:A596D	ENSP00000342222:A596D	A	+	2	0	TRPV2	16276137	0.965000	0.33210	0.977000	0.42913	0.497000	0.33675	3.734000	0.55037	2.245000	0.73994	0.449000	0.29647	GCC		0.632	TRPV2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130464.2	NM_016113		7	123	1	0	0.0293803	1	0.0327704	7	123					A	16335412	C	A	16335412	3	1	231	1	0	0	0	0	1	0	0	0	16593	739	26	5	1829	5	TRPV2	17	16335412	Missense_Mutation	SNP	C	TCGA-HC-8258-01A-11D-2260-08		16335412	64859798	19	10762											
NLK	51701	broad.mit.edu	37	chr17	26370029	26370031	+	In_Frame_Del	DEL	CAC	CAC	-																															acctccctcctcctcacctgCaccaccaccaccaccctcaa																										TCGA-HC-8258-01A-11D-2260-08	TCGA-HC-8258-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	597e4011-ea99-4356-b1d9-8cfe35db7c3b	bf511245-3f97-49f0-9422-c646fa25dba0	g.chr17:26370029_26370031delCAC	ENST00000407008.3	+	1	848_850	c.130_132delCAC	c.(130-132)cacdel	p.H48del	NLK_ENST00000582037.1_In_Frame_Del_p.H48del|NLK_ENST00000583517.1_Intron	NM_016231.4	NP_057315.3	Q9UBE8	NLK_HUMAN	nemo-like kinase	48	Poly-His.|Required for interaction with TAB2. {ECO:0000250}.|Sufficient for interaction with DAPK3.				intracellular signal transduction (GO:0035556)|MAPK cascade (GO:0000165)|negative regulation of Wnt signaling pathway (GO:0030178)|peptidyl-threonine phosphorylation (GO:0018107)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)|serine phosphorylation of STAT3 protein (GO:0033136)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|MAP kinase activity (GO:0004707)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|SH2 domain binding (GO:0042169)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|ovary(1)	14	all_lung(13;0.000343)|Lung NSC(42;0.00184)			UCEC - Uterine corpus endometrioid carcinoma (53;0.168)		TCCTCACCTGCACCACCACCACC	0.611																																						ENST00000407008.3																			0				breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|ovary(1)	14						c.(130-132)del		nemo-like kinase				19,0,4177		0,0,19,0,0,2079						-0.9	1			101	28,4,8132		1,0,26,0,4,4051	no	codingComplex	NLK	NM_016231.4		1,0,45,0,4,6130	A1A1,A1A2,A1R,A2A2,A2R,RR		0.392,0.4528,0.4126				47,4,12309				SO:0001651	inframe_deletion	51701				intracellular protein kinase cascade|negative regulation of Wnt receptor signaling pathway|peptidyl-threonine phosphorylation|regulation of transcription, DNA-dependent|serine phosphorylation of STAT3 protein|transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway|Wnt receptor signaling pathway	cytoplasm|nucleus	ATP binding|magnesium ion binding|MAP kinase activity|SH2 domain binding|transcription factor binding|ubiquitin protein ligase binding	g.chr17:26370029_26370031delCAC	AF197898	CCDS11224.2	17q11.2	2005-12-22	2005-12-22		ENSG00000087095	ENSG00000087095			29858	protein-coding gene	gene with protein product		609476	"nemo like kinase"			9448268, 10863097	Standard	NM_016231		Approved		uc010crj.3	Q9UBE8	OTTHUMG00000132451	ENST00000407008.3:c.130_132delCAC	17.37:g.26370038_26370040delCAC	ENSP00000384625:p.His48del					NLK_ENST00000582037.1_In_Frame_Del_p.H48del|NLK_ENST00000583517.1_Intron	p.H48del	NM_016231.4	NP_057315.3	Q9UBE8	NLK_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (53;0.168)	1	848_850	+	all_lung(13;0.000343)|Lung NSC(42;0.00184)		48			Poly-His.		B2RCX1|Q2PNI9|Q6P2A3	In_Frame_Del	DEL	ENST00000407008.3	37	c.130_132delCAC	CCDS11224.2																																																																																				0.611	NLK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255607.3	NM_016231		2	4						2	4	---	---	---	---	-	26370031	CAC	-	26370029	7	5	231	1	0	1	0	1	0	0	0	0	10466	710	25	0	132	0	NLK	17	26370029	In_Frame_Del	DEL	CAC	TCGA-HC-8258-01A-11D-2260-08	10034617	26370029	54825181	20	10763											
SPOP	8405	broad.mit.edu	37	chr17	47696426	47696426	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tctacggatgaatttcttgaAtccccagtctttgccttgca	8	15	7	11	1	3	2	0	2	3	0	4	3	4	3	3	1	3	1	3	1	3	5			TCGA-HC-8258-01A-11D-2260-08	TCGA-HC-8258-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	597e4011-ea99-4356-b1d9-8cfe35db7c3b	bf511245-3f97-49f0-9422-c646fa25dba0	g.chr17:47696426A>G	ENST00000393328.2	-	6	762	c.397T>C	c.(397-399)Ttc>Ctc	p.F133L	SPOP_ENST00000347630.2_Missense_Mutation_p.F133L|SPOP_ENST00000504102.1_Missense_Mutation_p.F133L|SPOP_ENST00000393331.3_Missense_Mutation_p.F133L|SPOP_ENST00000513080.1_5'Flank|SPOP_ENST00000503676.1_Missense_Mutation_p.F133L	NM_003563.3	NP_003554.1	O43791	SPOP_HUMAN	speckle-type POZ protein	133	Important for binding substrate proteins.|MATH. {ECO:0000255|PROSITE- ProRule:PRU00129}.|Required for nuclear localization.				glucose homeostasis (GO:0042593)|positive regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902237)|positive regulation of type B pancreatic cell apoptotic process (GO:2000676)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	Cul3-RING ubiquitin ligase complex (GO:0031463)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	ubiquitin protein ligase binding (GO:0031625)	p.F133V(4)		endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						AATTTCTTGAATCCCCAGTCT	0.448										Prostate(2;0.17)																												ENST00000393331.3																			4	Substitution - Missense(4)	p.F133V(4)	prostate(4)	endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						c.(397-399)Ttc>Ctc		speckle-type POZ protein							119	121	120					17																	47696426		2203	4300	6503	SO:0001583	missense	8405				mRNA processing	nucleus	protein binding	g.chr17:47696426A>G	AJ000644	CCDS11551.1	17q21.33	2013-01-09			ENSG00000121067	ENSG00000121067		"BTB/POZ domain containing"	11254	protein-coding gene	gene with protein product		602650				9414087	Standard	NM_001007227		Approved	TEF2, BTBD32	uc002ipg.3	O43791	OTTHUMG00000161496	ENST00000393328.2:c.397T>C	17.37:g.47696426A>G	ENSP00000377001:p.Phe133Leu	Prostate(2;0.17)				SPOP_ENST00000504102.1_Missense_Mutation_p.F133L|SPOP_ENST00000503676.1_Missense_Mutation_p.F133L|SPOP_ENST00000393328.2_Missense_Mutation_p.F133L|SPOP_ENST00000347630.2_Missense_Mutation_p.F133L	p.F133L	NM_001007226.1|NM_001007227.1	NP_001007227.1|NP_001007228.1	O43791	SPOP_HUMAN			7	867	-			133			MATH.|Required for nuclear localization.		B2R6S3|D3DTW7|Q53HJ1	Missense_Mutation	SNP	ENST00000393328.2	37	c.397T>C	CCDS11551.1	.	.	.	.	.	.	.	.	.	.	A	28.5	4.927916	0.92389	.	.	ENSG00000121067	ENST00000393328;ENST00000393331;ENST00000347630;ENST00000504102;ENST00000503536;ENST00000503676;ENST00000513872;ENST00000509079;ENST00000505581;ENST00000507970;ENST00000514121	T;T;T;T;T;T;T;T;T	0.41758	0.99;0.99;0.99;0.99;0.99;0.99;0.99;0.99;0.99	5.41	5.41	0.78517	TRAF-type (1);TRAF-like (1);MATH (3);	0.000000	0.85682	D	0.000000	T	0.60274	0.2256	M	0.80847	2.515	0.80722	D	1	P	0.52692	0.955	P	0.55087	0.768	T	0.63310	-0.6666	10	0.44086	T	0.13	-9.6576	15.258	0.73599	1.0:0.0:0.0:0.0	.	133	O43791	SPOP_HUMAN	L	133;133;133;133;17;133;86;133;133;133;133	ENSP00000377001:F133L;ENSP00000377004:F133L;ENSP00000240327:F133L;ENSP00000425905:F133L;ENSP00000420908:F133L;ENSP00000426986:F133L;ENSP00000420960:F133L;ENSP00000426262:F133L;ENSP00000424119:F133L	ENSP00000240327:F133L	F	-	1	0	SPOP	45051425	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.131000	0.94446	2.261000	0.74972	0.460000	0.39030	TTC		0.448	SPOP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365154.2	NM_003563		5	79	0	0	0	1	0	5	79					G	47696426	A	G	47696426	3	3	231	1	0	0	0	0	1	0	0	0	15083	101	4	4	751	4	SPOP	17	47696426	Missense_Mutation	SNP	A	TCGA-HC-8258-01A-11D-2260-08	21326397	47696426	33498784	21	10764											
NCAN	1463	broad.mit.edu	37	chr19	19360601	19360603	+	In_Frame_Del	DEL	CAC	CAC	-																															gttcacatcggatgcggcgaCaccaccaccaccaccaacac																										TCGA-HC-8258-01A-11D-2260-08	TCGA-HC-8258-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	597e4011-ea99-4356-b1d9-8cfe35db7c3b	bf511245-3f97-49f0-9422-c646fa25dba0	g.chr19:19360601_19360603delCAC	ENST00000252575.6	+	15	3946_3948	c.3847_3849delCAC	c.(3847-3849)cacdel	p.H1287del	NCAN_ENST00000538881.1_In_Frame_Del_p.H738del	NM_004386.2	NP_004377.2	O14594	NCAN_HUMAN	neurocan	1287					axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|regulation of synapse structural plasticity (GO:0051823)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|hyaluronic acid binding (GO:0005540)			breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64			Epithelial(12;0.00544)		Hyaluronan(DB08818)	GATGCGGCGAcaccaccaccacc	0.596																																						ENST00000252575.5																			0				breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64						c.(3847-3849)del		neurocan																																				SO:0001651	inframe_deletion	1463				axon guidance|cell adhesion	extracellular region	calcium ion binding|hyaluronic acid binding|sugar binding	g.chr19:19360601_19360603delCAC	AF026547	CCDS12397.1	19p12	2014-01-30	2007-02-15	2007-02-15	ENSG00000130287	ENSG00000130287		"Immunoglobulin superfamily / V-set domain containing", "Proteoglycans / Extracellular Matrix : Hyalectans", "Endogenous ligands"	2465	protein-coding gene	gene with protein product	"neurocan proteoglycan"	600826	"chondroitin sulfate proteoglycan 3"	CSPG3		1326557, 21353194	Standard	NM_004386		Approved		uc002nlz.3	O14594		ENST00000252575.6:c.3847_3849delCAC	19.37:g.19360610_19360612delCAC	ENSP00000252575:p.His1287del					NCAN_ENST00000538881.1_In_Frame_Del_p.H738del	p.H1287del	NM_004386.2	NP_004377.2	O14594	NCAN_HUMAN	Epithelial(12;0.00544)		15	3890_3892	+			1287					Q9UPK6	In_Frame_Del	DEL	ENST00000252575.6	37	c.3847_3849delCAC	CCDS12397.1																																																																																				0.596	NCAN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460111.2	NM_004386		9	105						9	105	---	---	---	---	-	19360603	CAC	-	19360601	7	5	231	1	0	1	0	1	0	0	0	0	10204	478	17	0	3901	0	NCAN	19	19360601	In_Frame_Del	DEL	CAC	TCGA-HC-8258-01A-11D-2260-08		19360601	39768382	22	10765											
PLA2G6	8398	broad.mit.edu	37	chr22	38509530	38509530	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgcccagttccttggccccAaaaacagtcttggccagctc	8	10	8	15	0	1	0	0	0	1	0	3	0	2	0	5	2	3	2	5	2	2	4			TCGA-HC-8258-01A-11D-2260-08	TCGA-HC-8258-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	597e4011-ea99-4356-b1d9-8cfe35db7c3b	bf511245-3f97-49f0-9422-c646fa25dba0	g.chr22:38509530A>C	ENST00000332509.3	-	15	2349	c.2166T>G	c.(2164-2166)ttT>ttG	p.F722L	PLA2G6_ENST00000335539.3_Missense_Mutation_p.F668L|PLA2G6_ENST00000402064.1_Missense_Mutation_p.F668L|BAIAP2L2_ENST00000381669.3_5'Flank|BAIAP2L2_ENST00000332536.5_5'Flank	NM_003560.2	NP_003551.2	O60733	PLPL9_HUMAN	phospholipase A2, group VI (cytosolic, calcium-independent)	722					cardiolipin acyl-chain remodeling (GO:0035965)|cardiolipin biosynthetic process (GO:0032049)|cell death (GO:0008219)|chemotaxis (GO:0006935)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|glycerophospholipid biosynthetic process (GO:0046474)|innate immune response (GO:0045087)|lipid catabolic process (GO:0016042)|maternal process involved in female pregnancy (GO:0060135)|memory (GO:0007613)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phospholipid metabolic process (GO:0006644)|positive regulation of arachidonic acid secretion (GO:0090238)|positive regulation of ceramide biosynthetic process (GO:2000304)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of exocytosis (GO:0045921)|positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0035774)|positive regulation of protein kinase C signaling (GO:0090037)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of vasodilation (GO:0045909)|regulation of store-operated calcium channel activity (GO:1901339)|response to endoplasmic reticulum stress (GO:0034976)|small molecule metabolic process (GO:0044281)|urinary bladder smooth muscle contraction (GO:0014832)	cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)	calcium-independent phospholipase A2 activity (GO:0047499)|phospholipase A2 activity (GO:0004623)			breast(2)|endometrium(6)|kidney(1)|large_intestine(4)|liver(1)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	24	Melanoma(58;0.045)				Quinacrine(DB01103)	CCTTGGCCCCAAAAACAGTCT	0.622																																						ENST00000332509.3																			0				breast(2)|endometrium(6)|kidney(1)|large_intestine(4)|liver(1)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	24						c.(2164-2166)ttT>ttG		phospholipase A2, group VI (cytosolic, calcium-independent)	Quinacrine(DB01103)						121	108	112					22																	38509530		2203	4300	6503	SO:0001583	missense	8398				cardiolipin biosynthetic process|cell death|lipid catabolic process	centrosome|membrane		g.chr22:38509530A>C	AF064594	CCDS13967.1, CCDS33645.1	22q13.1	2013-01-10			ENSG00000184381	ENSG00000184381	3.1.1.4	"Patatin-like phospholipase domain containing", "Parkinson disease", "Ankyrin repeat domain containing"	9039	protein-coding gene	gene with protein product	"neurodegeneration with brain iron accumulation 2"	603604				9417066, 16799181, 19029121	Standard	NM_001199562		Approved	iPLA2, PNPLA9, PARK14, iPLA2beta, NBIA2	uc003aux.1	O60733	OTTHUMG00000151246	ENST00000332509.3:c.2166T>G	22.37:g.38509530A>C	ENSP00000333142:p.Phe722Leu					PLA2G6_ENST00000335539.3_Missense_Mutation_p.F668L|PLA2G6_ENST00000402064.1_Missense_Mutation_p.F668L	p.F722L	NM_003560.2	NP_003551.2	O60733	PA2G6_HUMAN			15	2349	-	Melanoma(58;0.045)		722					A8K597|B0QYE8|O75645|Q8N452|Q9UG29|Q9UIT0|Q9Y671	Missense_Mutation	SNP	ENST00000332509.3	37	c.2166T>G	CCDS13967.1	.	.	.	.	.	.	.	.	.	.	A	15.18	2.756638	0.49362	.	.	ENSG00000184381	ENST00000332509;ENST00000419848;ENST00000335539;ENST00000402064	T;T;T	0.75477	-0.94;-0.94;-0.94	4.54	1.15	0.20763	Acyl transferase/acyl hydrolase/lysophospholipase (1);	0.314743	0.30151	N	0.010289	T	0.57710	0.2072	L	0.32530	0.975	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.08055	0.001;0.003	T	0.39781	-0.9597	10	0.39692	T	0.17	-2.5192	5.8135	0.18479	0.7061:0.1409:0.153:0.0	.	668;722	O60733-2;O60733	.;PA2G6_HUMAN	L	722;583;668;668	ENSP00000333142:F722L;ENSP00000335149:F668L;ENSP00000386100:F668L	ENSP00000333142:F722L	F	-	3	2	PLA2G6	36839476	1.000000	0.71417	0.997000	0.53966	0.996000	0.88848	1.679000	0.37597	-0.127000	0.11661	0.459000	0.35465	TTT		0.622	PLA2G6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321860.1	NM_001004426		3	137	0	0	0	1	0	3	137					C	38509530	A	C	38509530	3	2	231	1	0	0	0	0	1	0	0	0	12008	127	5	5	266	5	PLA2G6	22	38509530	Missense_Mutation	SNP	A	TCGA-HC-8258-01A-11D-2260-08		38509530	12795036	23	10766											
KLHDC7A	127707	broad.mit.edu	37	chr1	18808932	18808932	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgcgagctgatcctgcagcGccggctccggggccgccagt	4	5	16	16	6	0	1	0	1	0	0	2	2	2	1	5	3	3	3	5	3	0	0			TCGA-HC-8259-01A-11D-2260-08	TCGA-HC-8259-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a3672a-baa0-4d94-aad4-c88dfc3d357f	a537ec83-4cbe-4ddc-9116-39468c6bd4bb	g.chr1:18808932G>A	ENST00000400664.1	+	1	1509	c.1457G>A	c.(1456-1458)cGc>cAc	p.R486H		NM_152375.2	NP_689588.2	Q5VTJ3	KLD7A_HUMAN	kelch domain containing 7A	486						integral component of membrane (GO:0016021)				endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	22		Colorectal(325;3.46e-05)|all_lung(284;0.000152)|Lung NSC(340;0.000185)|Breast(348;0.00046)|Renal(390;0.000518)|Ovarian(437;0.0014)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.41e-05)|Kidney(64;0.00017)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		ATCCTGCAGCGCCGGCTCCGG	0.662																																						ENST00000400664.1																			0				endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	22						c.(1456-1458)cGc>cAc		kelch domain containing 7A							30	35	33					1																	18808932		2199	4296	6495	SO:0001583	missense	127707					integral to membrane		g.chr1:18808932G>A	AK096072	CCDS185.2	1p36.13	2008-02-05			ENSG00000179023	ENSG00000179023			26791	protein-coding gene	gene with protein product							Standard	NM_152375		Approved	FLJ38753	uc001bax.3	Q5VTJ3	OTTHUMG00000002431	ENST00000400664.1:c.1457G>A	1.37:g.18808932G>A	ENSP00000383505:p.Arg486His						p.R486H	NM_152375.2	NP_689588.2	Q5VTJ3	KLD7A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.41e-05)|Kidney(64;0.00017)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	1	1509	+		Colorectal(325;3.46e-05)|all_lung(284;0.000152)|Lung NSC(340;0.000185)|Breast(348;0.00046)|Renal(390;0.000518)|Ovarian(437;0.0014)|Myeloproliferative disorder(586;0.0255)	486					Q8N8W6	Missense_Mutation	SNP	ENST00000400664.1	37	c.1457G>A	CCDS185.2	.	.	.	.	.	.	.	.	.	.	G	14.88	2.666831	0.47677	.	.	ENSG00000179023	ENST00000400664;ENST00000540290	T	0.75477	-0.94	5.41	1.41	0.22369	.	0.308619	0.28332	N	0.015723	T	0.78855	0.4349	L	0.58810	1.83	0.09310	N	1	D;D	0.76494	0.999;0.996	P;P	0.62435	0.902;0.84	T	0.69562	-0.5112	10	0.72032	D	0.01	.	8.7639	0.34692	0.364:0.0:0.636:0.0	.	423;486	A7E2V3;Q5VTJ3	.;KLD7A_HUMAN	H	486;423	ENSP00000383505:R486H	ENSP00000383505:R486H	R	+	2	0	KLHDC7A	18681519	0.002000	0.14202	0.010000	0.14722	0.327000	0.28475	0.657000	0.24963	0.010000	0.14839	0.561000	0.74099	CGC		0.662	KLHDC7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006923.3	NM_152375		3	69	0	0	0	1	0	3	69					A	18808932	G	A	18808932	3	1	232	1	0	0	0	0	1	0	0	0	8360	1087	38	1	1459	1	KLHDC7A	1	18808932	Missense_Mutation	SNP	G	TCGA-HC-8259-01A-11D-2260-08		18808932	230441689	1	10767											
YRDC	79693	broad.mit.edu	37	chr1	38272777	38272777	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agaaaacttgactcacaggcGtaaaagggtttaggtccttg	13	10	11	7	1	1	2	1	1	0	1	2	2	2	2	1	3	1	2	1	3	5	5	rs549342179		TCGA-HC-8259-01A-11D-2260-08	TCGA-HC-8259-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a3672a-baa0-4d94-aad4-c88dfc3d357f	a537ec83-4cbe-4ddc-9116-39468c6bd4bb	g.chr1:38272777G>A	ENST00000373044.2	-	2	504	c.500C>T	c.(499-501)aCg>aTg	p.T167M	C1orf122_ENST00000373043.1_5'UTR|C1orf122_ENST00000373042.4_5'Flank|C1orf122_ENST00000468084.1_5'Flank|C1orf122_ENST00000446260.2_5'Flank	NM_024640.3	NP_078916.3	Q86U90	YRDC_HUMAN	yrdC N(6)-threonylcarbamoyltransferase domain containing	167	YrdC-like. {ECO:0000255|PROSITE- ProRule:PRU00518}.				negative regulation of transport (GO:0051051)	membrane (GO:0016020)|mitochondrion (GO:0005739)	double-stranded RNA binding (GO:0003725)			lung(2)|upper_aerodigestive_tract(1)	3	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				ACTCACAGGCGTAAAAGGGTT	0.522													G|||	1	0.000199681	0	0	5008	,	,		20218	0		0	False		,,,				2504	0.001					ENST00000373044.2																			0				lung(2)|upper_aerodigestive_tract(1)	3						c.(499-501)aCg>aTg		yrdC N(6)-threonylcarbamoyltransferase domain containing							97	97	97					1																	38272777		2203	4300	6503	SO:0001583	missense	79693				negative regulation of transport	membrane|mitochondrion		g.chr1:38272777G>A		CCDS30675.1	1p34.3	2013-09-12	2013-09-12		ENSG00000196449	ENSG00000196449			28905	protein-coding gene	gene with protein product	"ischemia/reperfusion inducible protein"	612276	"yrdC domain containing (E.coli)", "yrdC domain containing (E. coli)"			12730717	Standard	NM_024640		Approved	FLJ23476, IRIP, SUA5	uc001cca.1	Q86U90	OTTHUMG00000004318	ENST00000373044.2:c.500C>T	1.37:g.38272777G>A	ENSP00000362135:p.Thr167Met					C1orf122_ENST00000373043.1_5'UTR	p.T167M	NM_024640.3	NP_078916.3	Q86U90	YRDC_HUMAN			2	504	-	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)	167			YrdC-like.		Q4W4X8|Q6NVW3|Q7L4E4|Q7Z2I4|Q9H5F8	Missense_Mutation	SNP	ENST00000373044.2	37	c.500C>T	CCDS30675.1	.	.	.	.	.	.	.	.	.	.	G	17.92	3.506623	0.64410	.	.	ENSG00000196449	ENST00000373044	.	.	.	4.96	3.98	0.46160	DHBP synthase RibB-like alpha/beta domain (2);Sua5/YciO/YrdC, N-terminal (2);Sua5/YciO/YrdC/YwlC (1);	0.049433	0.85682	D	0.000000	T	0.75568	0.3867	M	0.70108	2.13	0.80722	D	1	D	0.71674	0.998	D	0.68192	0.956	T	0.76399	-0.2973	9	0.42905	T	0.14	.	14.3963	0.67013	0.0:0.1485:0.8515:0.0	.	167	Q86U90	YRDC_HUMAN	M	167	.	ENSP00000362135:T167M	T	-	2	0	YRDC	38045364	1.000000	0.71417	0.998000	0.56505	0.393000	0.30537	6.916000	0.75776	2.302000	0.77476	0.563000	0.77884	ACG		0.522	YRDC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012470.1	NM_024640		3	46	0	0	0	1	0	3	46					A	38272777	G	A	38272777	3	1	232	1	0	0	0	0	1	0	0	0	17491	1145	40	1	355	1	YRDC	1	38272777	Missense_Mutation	SNP	G	TCGA-HC-8259-01A-11D-2260-08	19463845	38272777	210977844	2	10768											
IL12RB2	3595	broad.mit.edu	37	chr1	67787493	67787495	+	In_Frame_Del	DEL	TAC	TAC	-																															gtcacaggtcttccccttggTacaaccttgtttgtctgcaa																								rs531958708		TCGA-HC-8259-01A-11D-2260-08	TCGA-HC-8259-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a3672a-baa0-4d94-aad4-c88dfc3d357f	a537ec83-4cbe-4ddc-9116-39468c6bd4bb	g.chr1:67787493_67787495delTAC	ENST00000262345.1	+	3	925_927	c.285_287delTAC	c.(283-288)ggtaca>gga	p.T97del	IL12RB2_ENST00000541374.1_In_Frame_Del_p.T97del|IL12RB2_ENST00000544434.1_In_Frame_Del_p.T97del|IL12RB2_ENST00000371000.1_In_Frame_Del_p.T97del	NM_001559.2	NP_001550.1	Q99665	I12R2_HUMAN	interleukin 12 receptor, beta 2	97					cell surface receptor signaling pathway (GO:0007166)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma production (GO:0032609)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of interferon-gamma production (GO:0032729)|response to lipopolysaccharide (GO:0032496)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)	cytokine receptor activity (GO:0004896)			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(21)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	45						TTCCCCTTGGTACAACCTTGTTT	0.404																																						ENST00000262345.1																			0				breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(21)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	45						c.(283-288)gga>gg		interleukin 12 receptor, beta 2																																				SO:0001651	inframe_deletion	3595				positive regulation of cell proliferation|positive regulation of interferon-gamma production	integral to plasma membrane	cytokine receptor activity	g.chr1:67787493_67787495delTAC	U64198	CCDS638.1, CCDS58006.1, CCDS58007.1, CCDS72805.1	1p31.3-p31.2	2014-07-15			ENSG00000081985	ENSG00000081985		"Interleukins and interleukin receptors", "Fibronectin type III domain containing"	5972	protein-coding gene	gene with protein product		601642				9284929, 8943050	Standard	NM_001559		Approved		uc001ddu.3	Q99665	OTTHUMG00000009094	ENST00000262345.1:c.285_287delTAC	1.37:g.67787493_67787495delTAC	ENSP00000262345:p.Thr97del					IL12RB2_ENST00000544434.1_In_Frame_Del_p.GT95del|IL12RB2_ENST00000541374.1_In_Frame_Del_p.GT95del|IL12RB2_ENST00000371000.1_In_Frame_Del_p.GT95del	p.GT95del	NM_001559.2	NP_001550.1	Q99665	I12R2_HUMAN			3	925_927	+			95					B1AN98|B7ZKL9|F5H7L6|Q2M3V3	In_Frame_Del	DEL	ENST00000262345.1	37	c.285_287delTAC	CCDS638.1																																																																																				0.404	IL12RB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025202.2	NM_001559		8	214						8	214	---	---	---	---	-	67787495	TAC	-	67787493	7	5	232	1	0	1	0	1	0	0	0	0	7627	1625	57	0	291	0	IL12RB2	1	67787493	In_Frame_Del	DEL	TAC	TCGA-HC-8259-01A-11D-2260-08	29514716	67787493	181463128	3	10769											
ROBLD3	28956	broad.mit.edu	37	chr1	156025148	156025148	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagccagtaacatctgggccGcctacgaccggaacgggaac	11	5	12	13	4	1	0	0	0	1	0	1	3	1	2	4	3	5	1	4	3	5	3			TCGA-HC-8259-01A-11D-2260-08	TCGA-HC-8259-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a3672a-baa0-4d94-aad4-c88dfc3d357f	a537ec83-4cbe-4ddc-9116-39468c6bd4bb	g.chr1:156025148G>A	ENST00000368305.4	+	2	301	c.163G>A	c.(163-165)Gcc>Acc	p.A55T	LAMTOR2_ENST00000368302.3_Missense_Mutation_p.A55T|UBQLN4_ENST00000472638.1_5'Flank|UBQLN4_ENST00000368309.3_5'Flank|LAMTOR2_ENST00000368304.5_Missense_Mutation_p.A55T|LAMTOR2_ENST00000489664.1_3'UTR	NM_014017.3	NP_054736.1	Q9Y2Q5	LTOR2_HUMAN	late endosomal/lysosomal adaptor, MAPK and MTOR activator 2	55					activation of MAPKK activity (GO:0000186)|cell growth (GO:0016049)|cellular protein localization (GO:0034613)|cellular response to amino acid stimulus (GO:0071230)|positive regulation of GTPase activity (GO:0043547)|positive regulation of TOR signaling (GO:0032008)	extracellular vesicular exosome (GO:0070062)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)|Ragulator complex (GO:0071986)				breast(1)|cervix(1)|kidney(1)|large_intestine(1)|lung(2)|skin(1)	7						CATCTGGGCCGCCTACGACCG	0.567																																						ENST00000368305.4																			0				breast(1)|cervix(1)|kidney(1)|large_intestine(1)|lung(2)|skin(1)	7						c.(163-165)Gcc>Acc		late endosomal/lysosomal adaptor, MAPK and MTOR activator 2							100	102	101					1																	156025148		2203	4300	6503	SO:0001583	missense	28956				cell growth|cellular protein localization|cellular response to amino acid stimulus|positive regulation of TOR signaling cascade	lysosomal membrane|Ragulator complex		g.chr1:156025148G>A	BC024190	CCDS1128.1, CCDS44243.1	1q22	2014-09-17	2011-02-15	2011-02-15	ENSG00000116586	ENSG00000116586			29796	protein-coding gene	gene with protein product	"mitogen activated protein binding protein interacting protein", "MAPKSP1 adaptor protein", "endosomal adaptor protein"	610389	"roadblock domain containing 3"	ROBLD3		11042152	Standard	NM_014017		Approved	MAPBPIP, MAPKSP1AP, p14, ENDAP, Ragulator2	uc001fnb.3	Q9Y2Q5	OTTHUMG00000017462	ENST00000368305.4:c.163G>A	1.37:g.156025148G>A	ENSP00000357288:p.Ala55Thr					LAMTOR2_ENST00000489664.1_3'UTR|LAMTOR2_ENST00000368302.3_Missense_Mutation_p.A55T|LAMTOR2_ENST00000368304.5_Missense_Mutation_p.A55T	p.A55T	NM_014017.3	NP_054736.1	Q9Y2Q5	LTOR2_HUMAN			2	301	+			55					Q5VY97|Q5VY98|Q5VY99	Missense_Mutation	SNP	ENST00000368305.4	37	c.163G>A	CCDS1128.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.210133	0.79240	.	.	ENSG00000116586	ENST00000368305;ENST00000368304;ENST00000368302	T;T;T	0.28255	1.62;1.62;1.62	5.7	4.79	0.61399	.	0.000000	0.85682	D	0.000000	T	0.18718	0.0449	L	0.48174	1.505	0.80722	D	1	P;B	0.52842	0.956;0.427	P;B	0.44477	0.451;0.116	T	0.01537	-1.1330	10	0.40728	T	0.16	-11.7071	13.5938	0.61978	0.0755:0.0:0.9245:0.0	.	55;55	Q5VY98;Q9Y2Q5	.;LTOR2_HUMAN	T	55	ENSP00000357288:A55T;ENSP00000357287:A55T;ENSP00000357285:A55T	ENSP00000357285:A55T	A	+	1	0	LAMTOR2	154291772	1.000000	0.71417	0.996000	0.52242	0.994000	0.84299	9.174000	0.94824	1.408000	0.46895	0.655000	0.94253	GCC		0.567	LAMTOR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046197.1	NM_014017		3	129	0	0	0	1	0	3	129					A	156025148	G	A	156025148	3	1	232	1	0	0	0	0	1	0	0	0	13512	1087	38	1	169	1	ROBLD3	1	156025148	Missense_Mutation	SNP	G	TCGA-HC-8259-01A-11D-2260-08	88237655	156025148	93225473	4	10770											
CADM3	57863	broad.mit.edu	37	chr1	159163349	159163349	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagggtgaccaagaactccaCggtgagtacctcctgccttg	10	8	11	12	1	0	3	0	2	0	1	2	3	2	3	5	2	3	1	5	2	4	2	rs200132536		TCGA-HC-8259-01A-11D-2260-08	TCGA-HC-8259-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a3672a-baa0-4d94-aad4-c88dfc3d357f	a537ec83-4cbe-4ddc-9116-39468c6bd4bb	g.chr1:159163349C>T	ENST00000368125.4	+	4	676	c.519C>T	c.(517-519)caC>caT	p.H173H	CTA-134P22.2_ENST00000415675.2_RNA|CADM3_ENST00000368124.4_Splice_Site_p.H207H	NM_001127173.1	NP_001120645.1	Q8N126	CADM3_HUMAN	cell adhesion molecule 3	173	Ig-like C2-type 1.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|heterophilic cell-cell adhesion (GO:0007157)|homophilic cell adhesion (GO:0007156)|protein localization (GO:0008104)	cell-cell junction (GO:0005911)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)	p.H207H(1)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(20)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55	all_hematologic(112;0.0429)					AAGAACTCCACGGTGAGTACC	0.537																																						ENST00000368125.4																			1	Substitution - coding silent(1)	p.H207H(1)	endometrium(1)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(20)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						c.e4+1		cell adhesion molecule 3		C	,	0,4406		0,0,2203	62	58	59		519,621	-6.1	0.1	1		59	1,8599	1.2+/-3.3	0,1,4299	yes	coding-synonymous-near-splice,coding-synonymous-near-splice	CADM3	NM_001127173.1,NM_021189.3	,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,	173/399,207/433	159163349	1,13005	2203	4300	6503	SO:0001630	splice_region_variant	57863				adherens junction organization|cell junction assembly|heterophilic cell-cell adhesion|homophilic cell adhesion	cell-cell junction|integral to membrane	protein homodimerization activity	g.chr1:159163349C>T	AY046418	CCDS1182.1, CCDS44251.1	1q21.2-q22	2013-01-29	2007-02-07	2007-02-07	ENSG00000162706	ENSG00000162706		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	17601	protein-coding gene	gene with protein product	"nectin-like 1"	609743	"immunoglobulin superfamily, member 4B"	IGSF4B		11536053	Standard	NM_021189		Approved	BIgR, FLJ10698, TSLL1, NECL1, SynCAM3, Necl-1	uc001ftk.2	Q8N126	OTTHUMG00000037177	ENST00000368125.4:c.520+1C>T	1.37:g.159163349C>T						CADM3_ENST00000368124.4_Splice_Site_p.H207_splice	p.H173_splice	NM_001127173.1	NP_001120645.1	Q8N126	CADM3_HUMAN			4	676	+	all_hematologic(112;0.0429)		173			Ig-like C2-type 1.		Q8IZQ9|Q9NVJ5|Q9UJP1	Splice_Site	SNP	ENST00000368125.4	37	c.520_splice	CCDS44251.1																																																																																				0.537	CADM3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000090330.1	NM_021189	Silent	4	42	0	0	0	1	0	4	42					T	159163349	C	T	159163349	5	4	232	1	0	0	0	0	0	0	1	0	2568	550	19	1	639	1	CADM3	1	159163349	Splice_Site	SNP	C	TCGA-HC-8259-01A-11D-2260-08	3138201	159163349	90087272	5	10771											
OLFML2B	25903	broad.mit.edu	37	chr1	161967994	161967994	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaccagggtgcggtccgagcGttcaggtcgcttgtcacagc	6	8	15	12	4	2	0	2	0	0	0	4	2	3	0	2	3	3	2	2	3	0	2	rs34123330	byFrequency	TCGA-HC-8259-01A-11D-2260-08	TCGA-HC-8259-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a3672a-baa0-4d94-aad4-c88dfc3d357f	a537ec83-4cbe-4ddc-9116-39468c6bd4bb	g.chr1:161967994G>A	ENST00000294794.3	-	6	1518	c.1095C>T	c.(1093-1095)aaC>aaT	p.N365N	OLFML2B_ENST00000367940.2_Silent_p.N366N	NM_015441.1	NP_056256.1	Q68BL8	OLM2B_HUMAN	olfactomedin-like 2B	365					extracellular matrix organization (GO:0030198)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)	p.N365N(2)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48	all_hematologic(112;0.156)		BRCA - Breast invasive adenocarcinoma(70;0.0172)			CGGTCCGAGCGTTCAGGTCGC	0.612													G|||	14	0.00279553	0.0106	0	5008	,	,		18931	0		0	False		,,,				2504	0					ENST00000294794.3																			2	Substitution - coding silent(2)	p.N365N(2)	large_intestine(1)|lung(1)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						c.(1093-1095)aaC>aaT		olfactomedin-like 2B		G		28,4378	34.3+/-65.2	0,28,2175	142	144	143		1095	-2	0	1	dbSNP_126	143	0,8600		0,0,4300	no	coding-synonymous	OLFML2B	NM_015441.1		0,28,6475	AA,AG,GG		0.0,0.6355,0.2153		365/751	161967994	28,12978	2203	4300	6503	SO:0001819	synonymous_variant	25903							g.chr1:161967994G>A	BX648975	CCDS1236.1, CCDS72966.1	1q23.1	2008-02-05			ENSG00000162745	ENSG00000162745			24558	protein-coding gene	gene with protein product							Standard	XM_005245075		Approved	DKFZP586L151	uc001gbu.3	Q68BL8	OTTHUMG00000024047	ENST00000294794.3:c.1095C>T	1.37:g.161967994G>A						OLFML2B_ENST00000367940.2_Silent_p.N366N	p.N365N	NM_015441.1	NP_056256.1	Q68BL8	OLM2B_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.0172)		6	1518	-	all_hematologic(112;0.156)		365					B7ZA39|Q5VU96|Q6NX46|Q86X11|Q9Y3X6	Silent	SNP	ENST00000294794.3	37	c.1095C>T	CCDS1236.1																																																																																				0.612	OLFML2B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000060552.2	NM_015441		8	158	0	0	0	1	0	8	158					A	161967994	G	A	161967994	2	1	232	1	0	0	0	0	0	0	0	1	10858	1136	40	1		1	OLFML2B	1	161967994	Silent	SNP	G	TCGA-HC-8259-01A-11D-2260-08	2804645	161967994	87282627	6	10772											
POU2F1	5451	broad.mit.edu	37	chr1	167367303	167367303	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aggaattgagggcttgagccGtaggaggaagaaacgcacca	14	5	15	7	2	0	3	0	2	0	1	0	6	0	6	2	4	2	3	2	4	4	3			TCGA-HC-8259-01A-11D-2260-08	TCGA-HC-8259-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a3672a-baa0-4d94-aad4-c88dfc3d357f	a537ec83-4cbe-4ddc-9116-39468c6bd4bb	g.chr1:167367303G>A	ENST00000541643.3	+	12	1295	c.1133G>A	c.(1132-1134)cGt>cAt	p.R378H	POU2F1_ENST00000367866.2_Missense_Mutation_p.R401H|POU2F1_ENST00000367865.1_3'UTR|POU2F1_ENST00000367862.5_Missense_Mutation_p.R390H|POU2F1_ENST00000429375.2_Missense_Mutation_p.R338H|POU2F1_ENST00000420254.3_Missense_Mutation_p.R378H			P14859	PO2F1_HUMAN	POU class 2 homeobox 1	378					gene expression (GO:0010467)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription from RNA polymerase III promoter (GO:0006383)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(3)|liver(2)|lung(7)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	30						GGCTTGAGCCGTAGGAGGAAG	0.463																																						ENST00000367862.5																			0				breast(2)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(3)|liver(2)|lung(7)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	30						c.(1168-1170)cGt>cAt		POU class 2 homeobox 1							116	110	112					1																	167367303		2203	4300	6503	SO:0001583	missense	5451				negative regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr1:167367303G>A	BC001664	CCDS1259.1, CCDS1259.2, CCDS55655.1, CCDS55656.1	1q24.2	2011-06-20	2007-07-13		ENSG00000143190	ENSG00000143190		"Homeoboxes / POU class"	9212	protein-coding gene	gene with protein product		164175	"POU domain class 2, transcription factor 1"	OTF1		1887216	Standard	NM_002697		Approved	OCT1	uc001gee.3	P14859	OTTHUMG00000034436	ENST00000541643.3:c.1133G>A	1.37:g.167367303G>A	ENSP00000441285:p.Arg378His					POU2F1_ENST00000420254.3_Missense_Mutation_p.R378H|POU2F1_ENST00000541643.3_Missense_Mutation_p.R378H|POU2F1_ENST00000367865.1_3'UTR|POU2F1_ENST00000367866.2_Missense_Mutation_p.R401H|POU2F1_ENST00000429375.2_Missense_Mutation_p.R338H	p.R390H	NM_001198783.1	NP_001185712.1	P14859	PO2F1_HUMAN			11	1404	+			378					B1AL91|B1AL93|B4E029|J3KP77|Q5TBT7|Q6PK46|Q8NEU9|Q9BPV1	Missense_Mutation	SNP	ENST00000541643.3	37	c.1169G>A		.	.	.	.	.	.	.	.	.	.	G	27.8	4.865582	0.91511	.	.	ENSG00000143190	ENST00000367866;ENST00000429375;ENST00000367865;ENST00000420254;ENST00000541643;ENST00000367862;ENST00000443275	T;D;T;T;T;T;T	0.95949	-1.08;-3.86;-1.08;-1.08;-1.08;-1.08;-1.08	6.0	6.0	0.97389	Homeodomain-related (1);Homeobox (1);POU (1);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	D	0.98626	0.9540	H	0.96111	3.77	0.80722	D	1	D;D;D;D;D	0.69078	0.995;0.984;0.997;0.997;0.995	P;D;D;D;P	0.69654	0.878;0.965;0.943;0.961;0.878	D	0.99029	1.0820	10	0.87932	D	0	.	20.483	0.99199	0.0:0.0:1.0:0.0	.	338;378;390;376;378	B4E029;P14859-4;P14859-2;P14859-3;P14859	.;.;.;.;PO2F1_HUMAN	H	401;338;376;378;378;390;286	ENSP00000356840:R401H;ENSP00000401217:R338H;ENSP00000356839:R376H;ENSP00000414660:R378H;ENSP00000441285:R378H;ENSP00000356836:R390H;ENSP00000415993:R286H	ENSP00000356836:R390H	R	+	2	0	POU2F1	165633927	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.789000	0.99068	2.836000	0.97738	0.655000	0.94253	CGT		0.463	POU2F1-203	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_002697		4	45	0	0	0	1	0	4	45					A	167367303	G	A	167367303	3	1	232	1	0	0	0	0	1	0	0	0	12271	1145	40	1	1171	1	POU2F1	1	167367303	Missense_Mutation	SNP	G	TCGA-HC-8259-01A-11D-2260-08	5399309	167367303	81883318	7	10773											
PLEKHA6	22874	broad.mit.edu	37	chr1	204216548	204216548	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtgcagggcagagacctcaGactcgaggtgctcatactct	9	8	12	12	2	3	2	2	0	1	2	4	4	3	2	1	2	3	3	1	2	1	1			TCGA-HC-8259-01A-11D-2260-08	TCGA-HC-8259-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a3672a-baa0-4d94-aad4-c88dfc3d357f	a537ec83-4cbe-4ddc-9116-39468c6bd4bb	g.chr1:204216548G>T	ENST00000272203.3	-	13	2181	c.1865C>A	c.(1864-1866)tCt>tAt	p.S622Y	PLEKHA6_ENST00000414478.1_Missense_Mutation_p.S642Y	NM_014935.4	NP_055750.2	Q9Y2H5	PKHA6_HUMAN	pleckstrin homology domain containing, family A member 6	622										breast(2)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_cancers(21;0.0222)|Breast(84;0.179)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.229)			AGAGACCTCAGACTCGAGGTG	0.562																																						ENST00000272203.3																			0				breast(2)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53						c.(1864-1866)tCt>tAt		pleckstrin homology domain containing, family A member 6							94	72	79					1																	204216548		2203	4300	6503	SO:0001583	missense	22874							g.chr1:204216548G>T	AB023186	CCDS1444.1	1q32	2013-01-10			ENSG00000143850	ENSG00000143850		"Pleckstrin homology (PH) domain containing"	17053	protein-coding gene	gene with protein product		607771				11001876	Standard	NM_014935		Approved	PEPP3, KIAA0969	uc001hau.4	Q9Y2H5	OTTHUMG00000036057	ENST00000272203.3:c.1865C>A	1.37:g.204216548G>T	ENSP00000272203:p.Ser622Tyr					PLEKHA6_ENST00000414478.1_Missense_Mutation_p.S642Y	p.S622Y	NM_014935.4	NP_055750.2	Q9Y2H5	PKHA6_HUMAN	KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.229)		13	2181	-	all_cancers(21;0.0222)|Breast(84;0.179)		622					A7MD51|Q5VTI6	Missense_Mutation	SNP	ENST00000272203.3	37	c.1865C>A	CCDS1444.1	.	.	.	.	.	.	.	.	.	.	G	13.43	2.233716	0.39498	.	.	ENSG00000143850	ENST00000272203;ENST00000414478	T;T	0.32272	1.46;1.46	5.1	3.02	0.34903	.	0.652897	0.15238	N	0.273033	T	0.16811	0.0404	L	0.29908	0.895	0.24115	N	0.995824	P	0.44195	0.828	B	0.37833	0.259	T	0.05716	-1.0868	10	0.08599	T	0.76	-1.9646	7.8495	0.29446	0.1003:0.3735:0.5262:0.0	.	622	Q9Y2H5	PKHA6_HUMAN	Y	622;642	ENSP00000272203:S622Y;ENSP00000402046:S642Y	ENSP00000272203:S622Y	S	-	2	0	PLEKHA6	202483171	0.998000	0.40836	0.038000	0.18304	0.616000	0.37450	3.468000	0.53086	1.273000	0.44346	0.655000	0.94253	TCT		0.562	PLEKHA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087889.3	NM_014935		15	28	1	0	3.41278e-10	1	3.85032e-10	15	28					T	204216548	G	T	204216548	3	4	232	1	0	0	0	0	1	0	0	0	12060	942	33	5	1321	5	PLEKHA6	1	204216548	Missense_Mutation	SNP	G	TCGA-HC-8259-01A-11D-2260-08	36849245	204216548	45034073	8	10774											
MPV17	4358	broad.mit.edu	37	chr2	27535939	27535939	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agaccccgcctctccaccagCtgctgtgagataatgtcacc	9	8	8	16	1	2	2	1	1	1	2	3	3	2	2	6	0	2	2	6	0	1	1			TCGA-HC-8259-01A-11D-2260-08	TCGA-HC-8259-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a3672a-baa0-4d94-aad4-c88dfc3d357f	a537ec83-4cbe-4ddc-9116-39468c6bd4bb	g.chr2:27535939C>T	ENST00000380044.1	-	3	163	c.108G>A	c.(106-108)caG>caA	p.Q36Q	MPV17_ENST00000402310.1_Silent_p.Q36Q|MPV17_ENST00000405076.1_Silent_p.Q36Q|MPV17_ENST00000403262.2_Silent_p.Q36Q|MPV17_ENST00000233545.2_Silent_p.Q36Q|MPV17_ENST00000405983.1_Silent_p.Q51Q|MPV17_ENST00000402722.1_Missense_Mutation_p.A25T|MPV17_ENST00000357186.6_Intron	NM_002437.4	NP_002428.1	P39210	MPV17_HUMAN	MpV17 mitochondrial inner membrane protein	36					cellular response to reactive oxygen species (GO:0034614)|glomerular basement membrane development (GO:0032836)|homeostatic process (GO:0042592)|inner ear development (GO:0048839)|mitochondrial genome maintenance (GO:0000002)|reactive oxygen species metabolic process (GO:0072593)|regulation of reactive oxygen species metabolic process (GO:2000377)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|peroxisome (GO:0005777)				lung(4)	4	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TCTCCACCAGCTGCTGTGAGA	0.597																																						ENST00000402722.1																			0				lung(4)	4						c.(73-75)Gct>Act		MpV17 mitochondrial inner membrane protein							95	96	96					2																	27535939		2203	4300	6503	SO:0001819	synonymous_variant	4358				cellular response to reactive oxygen species|glomerular basement membrane development|homeostatic process|inner ear development|mitochondrial genome maintenance|regulation of reactive oxygen species metabolic process	integral to peroxisomal membrane|mitochondrial inner membrane		g.chr2:27535939C>T		CCDS1748.1	2p23.3	2008-02-05	2006-05-12		ENSG00000115204	ENSG00000115204			7224	protein-coding gene	gene with protein product	"glomerulosclerosis"	137960	"MpV17 transgene, murine homolog, glomerulosclerosis"			8281143, 16582910	Standard	XM_005264326		Approved	SYM1	uc002rjs.3	P39210	OTTHUMG00000097074	ENST00000380044.1:c.108G>A	2.37:g.27535939C>T						MPV17_ENST00000380044.1_Silent_p.Q36Q|MPV17_ENST00000357186.6_Intron|MPV17_ENST00000402310.1_Silent_p.Q36Q|MPV17_ENST00000403262.2_Silent_p.Q36Q|MPV17_ENST00000233545.2_Silent_p.Q36Q|MPV17_ENST00000405983.1_Silent_p.Q51Q|MPV17_ENST00000405076.1_Silent_p.Q36Q	p.A25T			P39210	MPV17_HUMAN			3	107	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		25					D6W555|Q53SY2|Q96B08	Missense_Mutation	SNP	ENST00000380044.1	37	c.73G>A	CCDS1748.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.54|14.54	2.567249|2.567249	0.45694|0.45694	.|.	.|.	ENSG00000115204|ENSG00000115204	ENST00000402722|ENST00000430991	T|.	0.79454|.	-1.27|.	5.37|5.37	3.6|3.6	0.41247|0.41247	.|.	.|.	.|.	.|.	.|.	T|T	0.58047|0.58047	0.2095|0.2095	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.53107|0.53107	-0.8485|-0.8485	6|4	0.87932|.	D|.	0|.	.|.	8.0599|8.0599	0.30627|0.30627	0.0:0.8201:0.0:0.1799|0.0:0.8201:0.0:0.1799	.|.	.|.	.|.	.|.	T|N	25|13	ENSP00000386000:A25T|.	ENSP00000386000:A25T|.	A|S	-|-	1|2	0|0	MPV17|MPV17	27389443|27389443	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	1.990000|1.990000	0.40717|0.40717	0.854000|0.854000	0.35336|0.35336	0.609000|0.609000	0.83330|0.83330	GCT|AGC		0.597	MPV17-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214193.1	NM_002437		9	111	0	0	0	1	0	9	111					T	27535939	C	T	27535939	2	4	232	1	0	0	0	0	0	0	0	1	9745	796	28	3		3	MPV17	2	27535939	Silent	SNP	C	TCGA-HC-8259-01A-11D-2260-08		27535939	215663434	9	10775											
VIT	5212	broad.mit.edu	37	chr2	36982191	36982191	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatggagagaatcctttatcGtcttaggtatgaccacacac	12	11	9	9	1	1	2	0	1	1	1	3	5	2	3	2	2	0	1	2	2	4	4	rs138478832		TCGA-HC-8259-01A-11D-2260-08	TCGA-HC-8259-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a3672a-baa0-4d94-aad4-c88dfc3d357f	a537ec83-4cbe-4ddc-9116-39468c6bd4bb	g.chr2:36982191G>A	ENST00000389975.3	+	5	705	c.403G>A	c.(403-405)Gtc>Atc	p.V135I	VIT_ENST00000379242.3_Missense_Mutation_p.V135I|VIT_ENST00000404084.1_Missense_Mutation_p.V113I|VIT_ENST00000379241.3_Missense_Mutation_p.V135I|VIT_ENST00000457137.2_Missense_Mutation_p.V135I|VIT_ENST00000497382.1_5'UTR|VIT_ENST00000401530.1_Missense_Mutation_p.V135I	NM_001177969.1|NM_001177970.1	NP_001171440.1|NP_001171441.1	Q6UXI7	VITRN_HUMAN	vitrin	135					extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	interstitial matrix (GO:0005614)	glycosaminoglycan binding (GO:0005539)			autonomic_ganglia(1)|breast(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_hematologic(82;0.248)				ATCCTTTATCGTCTTAGGTAT	0.443																																						ENST00000379242.3																			0				autonomic_ganglia(1)|breast(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57						c.(403-405)Gtc>Atc		vitrin		G	ILE/VAL,ILE/VAL,ILE/VAL,ILE/VAL,ILE/VAL	2,4404	4.2+/-10.8	0,2,2201	120	102	108		403,403,403,403,403	-1.2	0.4	2	dbSNP_134	108	2,8598	2.2+/-6.3	0,2,4298	yes	missense,missense,missense,missense,missense	VIT	NM_001177969.1,NM_001177970.1,NM_001177971.1,NM_001177972.1,NM_053276.3	29,29,29,29,29	0,4,6499	AA,AG,GG		0.0233,0.0454,0.0308	benign,benign,benign,benign,benign	135/679,135/658,135/657,135/204,135/694	36982191	4,13002	2203	4300	6503	SO:0001583	missense	5212					proteinaceous extracellular matrix		g.chr2:36982191G>A	AF063833	CCDS33180.1, CCDS54347.1, CCDS54348.1, CCDS54349.1, CCDS54350.1	2p22.2	2008-05-15			ENSG00000205221	ENSG00000205221			12697	protein-coding gene	gene with protein product							Standard	NM_001177969		Approved		uc002rpl.3	Q6UXI7	OTTHUMG00000152149	ENST00000389975.3:c.403G>A	2.37:g.36982191G>A	ENSP00000374625:p.Val135Ile					VIT_ENST00000404084.1_Missense_Mutation_p.V113I|VIT_ENST00000379241.3_Missense_Mutation_p.V135I|VIT_ENST00000497382.1_5'UTR|VIT_ENST00000389975.3_Missense_Mutation_p.V135I|VIT_ENST00000457137.2_Missense_Mutation_p.V135I|VIT_ENST00000401530.1_Missense_Mutation_p.V135I	p.V135I	NM_053276.3	NP_444506.2	Q6UXI7	VITRN_HUMAN			5	705	+		all_hematologic(82;0.248)	135					A1A526|A6NKI9|A8K7Y4|E9PF47|Q6P7T3|Q96DM8|Q96DT1|Q9UDN0	Missense_Mutation	SNP	ENST00000389975.3	37	c.403G>A	CCDS54347.1	.	.	.	.	.	.	.	.	.	.	G	10.86	1.469369	0.26423	4.54E-4	2.33E-4	ENSG00000205221	ENST00000379242;ENST00000389975;ENST00000402257;ENST00000457137;ENST00000404084;ENST00000379241;ENST00000401530	D;D;D;D;D;D	0.89552	-2.53;-2.53;-2.53;-2.53;-2.53;-2.53	5.63	-1.25	0.09405	LCCL (2);	0.311868	0.34879	N	0.003603	T	0.81992	0.4940	L	0.47716	1.5	0.32538	N	0.534023	B;B;B;B;B;B	0.29835	0.258;0.056;0.153;0.056;0.154;0.252	B;B;B;B;B;B	0.24394	0.016;0.016;0.023;0.016;0.037;0.053	T	0.76512	-0.2932	10	0.46703	T	0.11	-15.607	11.5419	0.50672	0.5534:0.0:0.4466:0.0	.	135;135;135;135;135;135	B4DRU4;E9PF47;Q6UXI7-2;Q6UXI7;Q6UXI7-4;Q6UXI7-3	.;.;.;VITRN_HUMAN;.;.	I	135;135;135;135;113;135;135	ENSP00000368544:V135I;ENSP00000374625:V135I;ENSP00000393561:V135I;ENSP00000384154:V113I;ENSP00000368543:V135I;ENSP00000385658:V135I	ENSP00000368543:V135I	V	+	1	0	VIT	36835695	0.501000	0.26099	0.384000	0.26145	0.479000	0.33129	0.722000	0.25925	-0.170000	0.10816	-0.123000	0.14984	GTC		0.443	VIT-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding				4	33	0	0	0	1	0	4	33					A	36982191	G	A	36982191	3	1	232	1	0	0	0	0	1	0	0	0	17168	1145	40	1	417	1	VIT	2	36982191	Missense_Mutation	SNP	G	TCGA-HC-8259-01A-11D-2260-08	9446252	36982191	206217182	10	10776											
ATP6V1E2	90423	broad.mit.edu	37	chr2	46739777	46739777	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catcgatttcctctgctttcTcattggcttcctgctcaatg	5	17	6	13	1	3	0	2	0	2	0	7	1	5	0	2	1	2	3	2	1	1	4			TCGA-HC-8259-01A-11D-2260-08	TCGA-HC-8259-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a3672a-baa0-4d94-aad4-c88dfc3d357f	a537ec83-4cbe-4ddc-9116-39468c6bd4bb	g.chr2:46739777T>A	ENST00000306448.4	-	2	1187	c.74A>T	c.(73-75)gAg>gTg	p.E25V	ATP6V1E2_ENST00000522587.1_Missense_Mutation_p.E25V	NM_080653.3	NP_542384.1	Q96A05	VATE2_HUMAN	ATPase, H+ transporting, lysosomal 31kDa, V1 subunit E2	25					ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	acrosomal vesicle (GO:0001669)|cytosol (GO:0005829)|proton-transporting two-sector ATPase complex, catalytic domain (GO:0033178)	hydrogen-exporting ATPase activity, phosphorylative mechanism (GO:0008553)|proton-transporting ATPase activity, rotational mechanism (GO:0046961)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|skin(1)	13		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	LUSC - Lung squamous cell carcinoma(58;0.151)			CTCTGCTTTCTCATTGGCTTC	0.478																																						ENST00000306448.4																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|skin(1)	13						c.(73-75)gAg>gTg		ATPase, H+ transporting, lysosomal 31kDa, V1 subunit E2							123	114	117					2																	46739777		2203	4300	6503	SO:0001583	missense	90423				cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|proton-transporting two-sector ATPase complex, catalytic domain	proton-transporting ATPase activity, rotational mechanism	g.chr2:46739777T>A	BC008981	CCDS1826.1	2p21	2011-02-10	2006-01-13	2002-06-21	ENSG00000250565	ENSG00000250565		"ATPases / V-type"	18125	protein-coding gene	gene with protein product			"ATPase, H+ transporting, lysosomal (vacuolar proton pump) 31kD-like 2", "ATPase, H+ transporting, lysosomal 31kDa, V1 subunit E isoform 2"	ATP6EL2, ATP6V1EL2		12036578	Standard	NM_080653		Approved	MGC9341, VMA4, ATP6E1	uc002ruy.3	Q96A05	OTTHUMG00000128819	ENST00000306448.4:c.74A>T	2.37:g.46739777T>A	ENSP00000304891:p.Glu25Val					ATP6V1E2_ENST00000522587.1_Missense_Mutation_p.E25V	p.E25V	NM_080653.3	NP_542384.1	Q96A05	VATE2_HUMAN	LUSC - Lung squamous cell carcinoma(58;0.151)		2	1187	-		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	25						Missense_Mutation	SNP	ENST00000306448.4	37	c.74A>T	CCDS1826.1	.	.	.	.	.	.	.	.	.	.	T	21.5	4.156846	0.78114	.	.	ENSG00000250565	ENST00000306448;ENST00000522587	.	.	.	4.08	4.08	0.47627	.	0.000000	0.85682	D	0.000000	T	0.81475	0.4830	H	0.94698	3.57	0.80722	D	1	D	0.64830	0.994	D	0.64595	0.927	D	0.85183	0.1005	9	0.87932	D	0	-26.0504	9.7457	0.40446	0.0:0.0:0.0:1.0	.	25	Q96A05	VATE2_HUMAN	V	25	.	ENSP00000304891:E25V	E	-	2	0	ATP6V1E2	46593281	1.000000	0.71417	0.912000	0.35992	0.986000	0.74619	7.465000	0.80898	2.062000	0.61559	0.533000	0.62120	GAG		0.478	ATP6V1E2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250753.1	NM_080653		5	57	0	0	0	1	0	5	57					A	46739777	T	A	46739777	3	1	232	1	0	0	0	0	1	0	0	0	1184	1551	54	5	610	5	ATP6V1E2	2	46739777	Missense_Mutation	SNP	T	TCGA-HC-8259-01A-11D-2260-08	9757586	46739777	196459596	11	10777											
EGR4	1961	broad.mit.edu	37	chr2	73518810	73518810	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	aagttgcggaggcagatgcgGcactggaagggtttgtggcc	8	8	18	7	2	0	1	0	0	0	1	0	3	0	3	1	6	2	4	1	6	2	2			TCGA-HC-8259-01A-11D-2260-08	TCGA-HC-8259-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a3672a-baa0-4d94-aad4-c88dfc3d357f	a537ec83-4cbe-4ddc-9116-39468c6bd4bb	g.chr2:73518810G>A	ENST00000545030.1	-	2	1619	c.1545C>T	c.(1543-1545)tgC>tgT	p.C515C	EGR4_ENST00000436467.2_Silent_p.C412C	NM_001965.3	NP_001956.3	Q05215	EGR4_HUMAN	early growth response 4	515					cellular response to cAMP (GO:0071320)|cellular response to gonadotropin stimulus (GO:0071371)|negative regulation of apoptotic process (GO:0043066)|positive regulation of cell proliferation (GO:0008284)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						GGCAGATGCGGCACTGGAAGG	0.662																																						ENST00000436467.2																			0				breast(1)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						c.(1234-1236)tgC>tgT		early growth response 4							58	55	56					2																	73518810		2203	4299	6502	SO:0001819	synonymous_variant	1961					intracellular	nucleic acid binding|zinc ion binding	g.chr2:73518810G>A		CCDS1925.2	2p13	2013-01-08			ENSG00000135625	ENSG00000135625		"Zinc fingers, C2H2-type"	3241	protein-coding gene	gene with protein product		128992				1584812	Standard	NM_001965		Approved	NGFI-C, PAT133	uc010yrj.2	Q05215	OTTHUMG00000129774	ENST00000545030.1:c.1545C>T	2.37:g.73518810G>A						EGR4_ENST00000545030.1_Silent_p.C515C	p.C412C			B7ZKU3	B7ZKU3_HUMAN			2	1623	-			411					B2RAE3|G3V1T5|Q2Z1P5	Silent	SNP	ENST00000545030.1	37	c.1236C>T	CCDS1925.2																																																																																				0.662	EGR4-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_001965		3	96	0	0	0	1	0	3	96					A	73518810	G	A	73518810	2	1	232	1	0	0	0	0	0	0	0	1	4974	1195	42	3		3	EGR4	2	73518810	Silent	SNP	G	TCGA-HC-8259-01A-11D-2260-08	26779033	73518810	169680563	12	10778											
CCDC74A	90557	broad.mit.edu	37	chr2	132287226	132287226	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgcttgctttcagatctccAttacaagctcataatgaatc	11	14	6	10	0	3	2	2	1	1	1	5	2	3	2	1	0	4	3	1	0	4	4	rs147307685	byFrequency	TCGA-HC-8259-01A-11D-2260-08	TCGA-HC-8259-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a3672a-baa0-4d94-aad4-c88dfc3d357f	a537ec83-4cbe-4ddc-9116-39468c6bd4bb	g.chr2:132287226A>G	ENST00000295171.6	+	2	395	c.257A>G	c.(256-258)cAt>cGt	p.H86R	CCDC74A_ENST00000478665.1_3'UTR|CCDC74A_ENST00000467992.2_5'Flank|CCDC74A_ENST00000409856.3_Missense_Mutation_p.H86R	NM_001258304.1|NM_001258305.1|NM_138770.2	NP_001245233.1|NP_001245234.1|NP_620125.1	Q96AQ1	CC74A_HUMAN	coiled-coil domain containing 74A	86										endometrium(4)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19						TCAGATCTCCATTACAAGCTC	0.532													N|||	3	0.000599042	0.0023	0	5008	,	,		21256	0		0	False		,,,				2504	0					ENST00000295171.6																			0				endometrium(4)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19						c.(256-258)cAt>cGt		coiled-coil domain containing 74A							157	140	146					2																	132287226		2203	4300	6503	SO:0001583	missense	90557							g.chr2:132287226A>G		CCDS2167.1, CCDS58732.1, CCDS74578.1	2q21.1	2008-02-05		2006-02-16	ENSG00000163040	ENSG00000163040			25197	protein-coding gene	gene with protein product						12477932	Standard	NM_138770		Approved	FLJ40345	uc002ttb.4	Q96AQ1	OTTHUMG00000131667	ENST00000295171.6:c.257A>G	2.37:g.132287226A>G	ENSP00000295171:p.His86Arg					CCDC74A_ENST00000478665.1_3'UTR|CCDC74A_ENST00000409856.3_Missense_Mutation_p.H86R	p.H86R	NM_001258304.1|NM_001258305.1|NM_138770.2	NP_001245233.1|NP_001245234.1|NP_620125.1	Q96AQ1	CC74A_HUMAN			2	395	+			86					Q6P4I5	Missense_Mutation	SNP	ENST00000295171.6	37	c.257A>G	CCDS2167.1	24	0.01098901098901099	4	0.008130081300813009	1	0.0027624309392265192	2	0.0034965034965034965	17	0.022427440633245383	.	3.455	-0.111147	0.06881	.	.	ENSG00000163040	ENST00000295171;ENST00000409856;ENST00000434330	T;T;T	0.47869	1.0;1.0;0.83	2.88	1.67	0.24075	.	0.464979	0.17654	N	0.166572	T	0.23451	0.0567	M	0.64997	1.995	0.80722	D	1	B;B	0.20550	0.046;0.014	B;B	0.15484	0.013;0.006	T	0.09271	-1.0682	10	0.40728	T	0.16	-0.015	5.1254	0.14882	0.8465:0.0:0.1535:0.0	.	86;86	Q96AQ1-2;Q96AQ1	.;CC74A_HUMAN	R	86;86;81	ENSP00000295171:H86R;ENSP00000387009:H86R;ENSP00000406839:H81R	ENSP00000295171:H86R	H	+	2	0	CCDC74A	132003696	0.988000	0.35896	0.818000	0.32626	0.224000	0.24922	2.849000	0.48286	0.164000	0.19529	-1.211000	0.01629	CAT		0.532	CCDC74A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254570.2	NM_138770		3	56	0	0	0	1	0	3	56					G	132287226	A	G	132287226	3	3	232	1	0	0	0	0	1	0	0	0	2847	217	8	4	263	4	CCDC74A	2	132287226	Missense_Mutation	SNP	A	TCGA-HC-8259-01A-11D-2260-08	58768416	132287226	110912147	13	10779											
ANKAR	150709	broad.mit.edu	37	chr2	190554476	190554476	+	Nonsense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cttactaatgctataaaataTaatcaggattatcttgatat	16	16	4	5	0	2	1	1	1	1	0	2	2	2	2	0	1	2	1	0	1	9	9			TCGA-HC-8259-01A-11D-2260-08	TCGA-HC-8259-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a3672a-baa0-4d94-aad4-c88dfc3d357f	a537ec83-4cbe-4ddc-9116-39468c6bd4bb	g.chr2:190554476T>G	ENST00000520309.1	+	3	913	c.825T>G	c.(823-825)taT>taG	p.Y275*	ANKAR_ENST00000313581.4_Nonsense_Mutation_p.Y275*|ANKAR_ENST00000431575.2_Nonsense_Mutation_p.Y204*|ANKAR_ENST00000281412.6_Nonsense_Mutation_p.Y39*|ANKAR_ENST00000438402.2_Nonsense_Mutation_p.Y275*|ANKAR_ENST00000461516.1_3'UTR	NM_144708.3	NP_653309.3	Q7Z5J8	ANKAR_HUMAN	ankyrin and armadillo repeat containing	275						integral component of membrane (GO:0016021)				breast(3)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(16)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(2)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0256)|all cancers(119;0.0744)			CTATAAAATATAATCAGGATT	0.274																																						ENST00000520309.1																			0				breast(3)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(16)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(2)	46						c.(823-825)taT>taG		ankyrin and armadillo repeat containing							53	63	60					2																	190554476		2202	4290	6492	SO:0001587	stop_gained	150709					integral to membrane	binding	g.chr2:190554476T>G	AJ549812	CCDS33351.1, CCDS33351.2	2q32.2	2013-02-14			ENSG00000151687	ENSG00000151687		"Ankyrin repeat domain containing", "Armadillo repeat containing"	26350	protein-coding gene	gene with protein product		609803				15110750	Standard	NM_144708		Approved	FLJ25415	uc002uqw.2	Q7Z5J8	OTTHUMG00000154398	ENST00000520309.1:c.825T>G	2.37:g.190554476T>G	ENSP00000427882:p.Tyr275*					ANKAR_ENST00000281412.6_Nonsense_Mutation_p.Y39*|ANKAR_ENST00000313581.4_Nonsense_Mutation_p.Y275*|ANKAR_ENST00000438402.2_Nonsense_Mutation_p.Y275*|ANKAR_ENST00000431575.2_Nonsense_Mutation_p.Y204*|ANKAR_ENST00000461516.1_3'UTR	p.Y275*	NM_144708.3	NP_653309.3	Q7Z5J8	ANKAR_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0256)|all cancers(119;0.0744)		3	913	+			275					Q3ZCS6|Q4G0M2|Q6ZU02	Nonsense_Mutation	SNP	ENST00000520309.1	37	c.825T>G	CCDS33351.2	.	.	.	.	.	.	.	.	.	.	T	38	7.057921	0.98032	.	.	ENSG00000151687	ENST00000520309;ENST00000313581;ENST00000438402;ENST00000431575;ENST00000281412	.	.	.	5.97	-1.68	0.08212	.	0.849073	0.10259	N	0.696210	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-15.3486	7.9496	0.30006	0.0:0.4386:0.1246:0.4369	.	.	.	.	X	275;275;275;204;39	.	ENSP00000281412:Y39X	Y	+	3	2	ANKAR	190262721	0.168000	0.22989	0.043000	0.18650	0.563000	0.35712	0.485000	0.22324	-0.276000	0.09206	-0.250000	0.11733	TAT		0.274	ANKAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335045.3	NM_144708		4	55	0	0	0	1	0	4	55					G	190554476	T	G	190554476	4	3	232	1	0	0	0	0	0	1	0	0	623	1413	49	5	831	5	ANKAR	2	190554476	Nonsense_Mutation	SNP	T	TCGA-HC-8259-01A-11D-2260-08	58267250	190554476	52644897	14	10780											
TUBA4A	7277	broad.mit.edu	37	chr2	220116300	220116300	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctcaccagcttgcggatcCgatccagcactgggtcaatg	8	9	10	14	2	2	0	2	0	1	0	5	2	4	1	3	2	3	2	3	2	1	1			TCGA-HC-8259-01A-11D-2260-08	TCGA-HC-8259-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a3672a-baa0-4d94-aad4-c88dfc3d357f	a537ec83-4cbe-4ddc-9116-39468c6bd4bb	g.chr2:220116300C>A	ENST00000248437.4	-	3	535	c.362G>T	c.(361-363)cGg>cTg	p.R121L	TUBA4A_ENST00000392088.2_Missense_Mutation_p.R106L|TUBA4B_ENST00000490341.1_RNA|TUBA4A_ENST00000498660.1_5'UTR	NM_006000.2	NP_005991.1	P68366	TBA4A_HUMAN	tubulin, alpha 4a	121					'de novo' posttranslational protein folding (GO:0051084)|blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based process (GO:0007017)|mitotic cell cycle (GO:0000278)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	20		Renal(207;0.0474)		Epithelial(149;1.16e-06)|all cancers(144;0.000191)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	Cabazitaxel(DB06772)|Podofilox(DB01179)|Vincristine(DB00541)	CTTGCGGATCCGATCCAGCAC	0.498																																						ENST00000392088.2																			0				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	20						c.(316-318)cGg>cTg		tubulin, alpha 4a							113	98	103					2																	220116300		2203	4300	6503	SO:0001583	missense	7277				'de novo' posttranslational protein folding|G2/M transition of mitotic cell cycle|microtubule-based movement|platelet activation|platelet degranulation|protein polymerization	cytosol|extracellular region|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity	g.chr2:220116300C>A	AK054731	CCDS2438.1, CCDS63131.1	2q36.1	2012-10-02	2007-02-12	2007-02-12	ENSG00000127824	ENSG00000127824		"Tubulins"	12407	protein-coding gene	gene with protein product		191110	"tubulin, alpha 1 (testis specific)", "tubulin, alpha 1"	TUBA1		3785200	Standard	NM_006000		Approved	FLJ30169, H2-ALPHA	uc002vkt.1	P68366	OTTHUMG00000133126	ENST00000248437.4:c.362G>T	2.37:g.220116300C>A	ENSP00000248437:p.Arg121Leu					TUBA4A_ENST00000498660.1_5'UTR|TUBA4A_ENST00000248437.4_Missense_Mutation_p.R121L	p.R106L	NM_001278552.1	NP_001265481.1	P68366	TBA4A_HUMAN		Epithelial(149;1.16e-06)|all cancers(144;0.000191)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	3	872	-		Renal(207;0.0474)	121					A8MUB1|B3KNQ6|P05215	Missense_Mutation	SNP	ENST00000248437.4	37	c.317G>T	CCDS2438.1	.	.	.	.	.	.	.	.	.	.	C	19.55	3.849575	0.71603	.	.	ENSG00000127824	ENST00000248437;ENST00000392088;ENST00000427737;ENST00000456818;ENST00000447205	T;T;T;T;T	0.69685	-0.42;-0.42;-0.42;-0.42;-0.42	5.06	5.06	0.68205	Tubulin/FtsZ, GTPase domain (4);	0.000000	0.85682	D	0.000000	T	0.82144	0.4973	M	0.90977	3.165	0.80722	D	1	P	0.38335	0.627	P	0.48840	0.592	D	0.85693	0.1308	10	0.87932	D	0	.	18.6248	0.91333	0.0:1.0:0.0:0.0	.	121	P68366	TBA4A_HUMAN	L	121;106;106;144;106	ENSP00000248437:R121L;ENSP00000375938:R106L;ENSP00000408194:R106L;ENSP00000416992:R144L;ENSP00000396061:R106L	ENSP00000248437:R121L	R	-	2	0	TUBA4A	219824544	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	7.564000	0.82326	2.639000	0.89480	0.655000	0.94253	CGG		0.498	TUBA4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256816.3	NM_006000		3	96	1	0	1	1	1	3	96					A	220116300	C	A	220116300	3	1	232	1	0	0	0	0	1	0	0	0	16746	652	23	5	992	5	TUBA4A	2	220116300	Missense_Mutation	SNP	C	TCGA-HC-8259-01A-11D-2260-08	29561824	220116300	23083073	15	10781											
SPHKAP	80309	broad.mit.edu	37	chr2	228882388	228882388	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gattccggggatagccctgcGcctgccacatgccgtccacc	6	7	11	17	3	0	0	0	0	0	0	2	2	2	1	7	2	4	0	7	2	1	2			TCGA-HC-8259-01A-11D-2260-08	TCGA-HC-8259-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a3672a-baa0-4d94-aad4-c88dfc3d357f	a537ec83-4cbe-4ddc-9116-39468c6bd4bb	g.chr2:228882388G>A	ENST00000392056.3	-	7	3228	c.3182C>T	c.(3181-3183)gCg>gTg	p.A1061V	SPHKAP_ENST00000344657.5_Missense_Mutation_p.A1061V	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	1061						extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|Z disc (GO:0030018)	protein kinase A binding (GO:0051018)	p.A1061V(2)		NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		ATAGCCCTGCGCCTGCCACAT	0.557																																						ENST00000392056.3																			2	Substitution - Missense(2)	p.A1061V(2)	lung(2)	NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185						c.(3181-3183)gCg>gTg		SPHK1 interactor, AKAP domain containing							58	59	59					2																	228882388		2203	4300	6503	SO:0001583	missense	80309					cytoplasm	protein binding	g.chr2:228882388G>A		CCDS33389.1, CCDS46537.1	2q36.3	2010-08-20			ENSG00000153820	ENSG00000153820		"A-kinase anchor proteins"	30619	protein-coding gene	gene with protein product	"sphingosine kinase type 1-interacting protein"	611646				12080051, 11214970	Standard	NM_030623		Approved	SKIP	uc002vpq.2	Q2M3C7	OTTHUMG00000153584	ENST00000392056.3:c.3182C>T	2.37:g.228882388G>A	ENSP00000375909:p.Ala1061Val					SPHKAP_ENST00000344657.5_Missense_Mutation_p.A1061V	p.A1061V	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)	7	3228	-		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)	1061					Q68DA3|Q68DR8|Q9C0I5	Missense_Mutation	SNP	ENST00000392056.3	37	c.3182C>T	CCDS46537.1	.	.	.	.	.	.	.	.	.	.	G	16.48	3.134160	0.56828	.	.	ENSG00000153820	ENST00000392056;ENST00000344657	T;T	0.13089	2.62;2.63	6.08	3.07	0.35406	.	0.334401	0.34828	N	0.003651	T	0.12944	0.0314	N	0.14661	0.345	0.26935	N	0.966371	P;P;D	0.58268	0.936;0.892;0.982	B;B;P	0.48677	0.178;0.202;0.586	T	0.09292	-1.0681	10	0.46703	T	0.11	-6.9938	16.4974	0.84249	0.0:0.5827:0.4173:0.0	.	92;1061;1061	B3KR30;Q2M3C7;Q2M3C7-2	.;SPKAP_HUMAN;.	V	1061	ENSP00000375909:A1061V;ENSP00000339886:A1061V	ENSP00000339886:A1061V	A	-	2	0	SPHKAP	228590632	1.000000	0.71417	0.996000	0.52242	0.540000	0.34992	2.763000	0.47605	0.836000	0.34901	0.655000	0.94253	GCG		0.557	SPHKAP-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331750.1	NM_030623		9	88	0	0	0	1	0	9	88					A	228882388	G	A	228882388	3	1	232	1	0	0	0	0	1	0	0	0	15047	1087	38	1	1944	1	SPHKAP	2	228882388	Missense_Mutation	SNP	G	TCGA-HC-8259-01A-11D-2260-08	8766088	228882388	14316985	16	10782											
MTERFD2	130916	broad.mit.edu	37	chr2	242039085	242039085	+	Frame_Shift_Del	DEL	C	C	-																															gacccttgtaccacaggagtCccctgcttctcaaggaggca																										TCGA-HC-8259-01A-11D-2260-08	TCGA-HC-8259-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a3672a-baa0-4d94-aad4-c88dfc3d357f	a537ec83-4cbe-4ddc-9116-39468c6bd4bb	g.chr2:242039085delC	ENST00000391980.2	-	2	304	c.246delG	c.(244-246)gggfs	p.G82fs	MTERFD2_ENST00000406593.1_Intron|MTERFD2_ENST00000407095.3_Frame_Shift_Del_p.G82fs|MTERFD2_ENST00000495694.1_Frame_Shift_Del_p.G82fs|MTERFD2_ENST00000464344.2_Intron	NM_182501.3	NP_872307.2	Q7Z6M4	MTEF4_HUMAN		82					rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|mitochondrial large ribosomal subunit (GO:0005762)|mitochondrion (GO:0005739)	rRNA binding (GO:0019843)			endometrium(3)|large_intestine(6)|lung(5)|ovary(1)|skin(2)|urinary_tract(3)	20		all_cancers(19;4.67e-31)|all_epithelial(40;8.67e-13)|Breast(86;0.000141)|Renal(207;0.00528)|Ovarian(221;0.104)|Esophageal squamous(248;0.131)|all_lung(227;0.17)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;2.47e-32)|all cancers(36;1.79e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.59e-14)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;2.81e-06)|Lung(119;0.000509)|LUSC - Lung squamous cell carcinoma(224;0.00442)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0886)		CCACAGGAGTCCCCTGCTTCT	0.488																																						ENST00000391980.2																			0				endometrium(3)|large_intestine(6)|lung(5)|ovary(1)|skin(2)|urinary_tract(3)	20						c.(244-246)ggfs		MTERF domain containing 2							104	101	102					2																	242039085		2203	4300	6503	SO:0001589	frameshift_variant	130916							g.chr2:242039085delC																												ENST00000391980.2:c.246delG	2.37:g.242039085delC	ENSP00000375840:p.Gly82fs					MTERFD2_ENST00000495694.1_Frame_Shift_Del_p.G82fs|MTERFD2_ENST00000406593.1_Intron|MTERFD2_ENST00000407095.3_Frame_Shift_Del_p.G82fs	p.G82fs	NM_182501.3	NP_872307.2	Q7Z6M4	MTER2_HUMAN		Epithelial(32;2.47e-32)|all cancers(36;1.79e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.59e-14)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;2.81e-06)|Lung(119;0.000509)|LUSC - Lung squamous cell carcinoma(224;0.00442)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0886)	2	304	-		all_cancers(19;4.67e-31)|all_epithelial(40;8.67e-13)|Breast(86;0.000141)|Renal(207;0.00528)|Ovarian(221;0.104)|Esophageal squamous(248;0.131)|all_lung(227;0.17)|all_hematologic(139;0.182)|Melanoma(123;0.238)	82					A8K6K0|Q9P0E0	Frame_Shift_Del	DEL	ENST00000391980.2	37	c.246delG	CCDS2544.1																																																																																				0.488	MTERFD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323798.4			22	52						22	52	---	---	---	---	-	242039085	C	-	242039085	7	5	232	1	0	1	0	1	0	0	0	0	9920	842	30	0	911	0	MTERFD2	2	242039085	Frame_Shift_Del	DEL	C	TCGA-HC-8259-01A-11D-2260-08	13156697	242039085	1160288	17	10783											
SUSD5	26032	broad.mit.edu	37	chr3	33216454	33216454	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gtgaaggcggtctcccggtgGcccatgatgtggcctggggc	4	8	18	11	2	1	2	0	2	1	0	2	2	1	2	3	7	0	0	3	7	1	0			TCGA-HC-8259-01A-11D-2260-08	TCGA-HC-8259-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a3672a-baa0-4d94-aad4-c88dfc3d357f	a537ec83-4cbe-4ddc-9116-39468c6bd4bb	g.chr3:33216454G>A	ENST00000309558.3	-	4	939	c.522C>T	c.(520-522)ggC>ggT	p.G174G		NM_015551.1	NP_056366.1	O60279	SUSD5_HUMAN	sushi domain containing 5	174	Sushi. {ECO:0000255|PROSITE- ProRule:PRU00302}.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)	hyaluronic acid binding (GO:0005540)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						TCTCCCGGTGGCCCATGATGT	0.632																																						ENST00000309558.3																			0				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						c.(520-522)ggC>ggT		sushi domain containing 5							69	74	73					3																	33216454		2061	4182	6243	SO:0001819	synonymous_variant	26032				cell adhesion	integral to membrane	hyaluronic acid binding	g.chr3:33216454G>A	AB011099	CCDS46787.1	3p23	2014-02-12	2006-01-13		ENSG00000173705	ENSG00000173705			29061	protein-coding gene	gene with protein product							Standard	NM_015551		Approved	KIAA0527	uc003cfo.1	O60279	OTTHUMG00000155829	ENST00000309558.3:c.522C>T	3.37:g.33216454G>A							p.G174G	NM_015551.1	NP_056366.1	O60279	SUSD5_HUMAN			4	939	-			174			Sushi.			Silent	SNP	ENST00000309558.3	37	c.522C>T	CCDS46787.1																																																																																				0.632	SUSD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341902.1	XM_171054		6	105	0	0	0	1	0	6	105					A	33216454	G	A	33216454	2	1	232	1	0	0	0	0	0	0	0	1	15408	1190	42	3		3	SUSD5	3	33216454	Silent	SNP	G	TCGA-HC-8259-01A-11D-2260-08		33216454	164805976	18	10784											
KALRN	8997	broad.mit.edu	37	chr3	124132349	124132349	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctagacgcctggaatgaagaCttgcttcggcagatgaatga	12	9	12	8	2	0	6	0	3	0	3	1	7	0	7	1	2	1	2	1	2	4	3			TCGA-HC-8259-01A-11D-2260-08	TCGA-HC-8259-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a3672a-baa0-4d94-aad4-c88dfc3d357f	a537ec83-4cbe-4ddc-9116-39468c6bd4bb	g.chr3:124132349C>T	ENST00000240874.3	+	14	2530	c.2373C>T	c.(2371-2373)gaC>gaT	p.D791D	KALRN_ENST00000460856.1_Silent_p.D791D|KALRN_ENST00000360013.3_Silent_p.D791D	NM_003947.4	NP_003938.1	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	791					apoptotic signaling pathway (GO:0097190)|intracellular signal transduction (GO:0035556)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|protein phosphorylation (GO:0006468)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						GGAATGAAGACTTGCTTCGGC	0.532																																						ENST00000360013.3																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						c.(2371-2373)gaC>gaT		kalirin, RhoGEF kinase							86	72	76					3																	124132349		2203	4300	6503	SO:0001819	synonymous_variant	8997				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity	g.chr3:124132349C>T	U94190	CCDS3027.1, CCDS3028.1	3q21.2	2013-02-11	2005-03-11	2005-03-12	ENSG00000160145	ENSG00000160145		"Rho guanine nucleotide exchange factors", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	4814	protein-coding gene	gene with protein product	"serine/threonine kinase with Dbl and pleckstrin homology domains"	604605	"huntingtin-associated protein interacting protein (duo)"	HAPIP		9285789, 10023074	Standard	NM_001024660		Approved	duo, Hs.8004, TRAD, DUET, Kalirin, ARHGEF24	uc003ehd.3	O60229	OTTHUMG00000125545	ENST00000240874.3:c.2373C>T	3.37:g.124132349C>T						KALRN_ENST00000460856.1_Silent_p.D791D|KALRN_ENST00000240874.3_Silent_p.D791D	p.D791D	NM_001024660.3	NP_001019831.2	O60229	KALRN_HUMAN			14	2500	+			791					A8MSI4|C9JQ37|Q6ZN45|Q8TBQ5|Q9NSZ4|Q9Y2A5	Silent	SNP	ENST00000240874.3	37	c.2373C>T	CCDS3027.1	.	.	.	.	.	.	.	.	.	.	C	9.267	1.044619	0.19748	.	.	ENSG00000160145	ENST00000354186	.	.	.	5.65	4.78	0.61160	.	.	.	.	.	T	0.62950	0.2470	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.61768	-0.6995	4	.	.	.	.	11.4231	0.49993	0.0:0.8457:0.0:0.1543	.	.	.	.	I	769	.	.	T	+	2	0	KALRN	125615039	0.951000	0.32395	0.998000	0.56505	0.980000	0.70556	0.664000	0.25068	1.634000	0.50500	0.655000	0.94253	ACT		0.532	KALRN-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000258843.4	NM_003947		5	25	0	0	0	1	0	5	25					T	124132349	C	T	124132349	2	4	232	1	0	0	0	0	0	0	0	1	7975	564	20	3		3	KALRN	3	124132349	Silent	SNP	C	TCGA-HC-8259-01A-11D-2260-08	90915895	124132349	73890081	19	10785											
EPHB1	2047	broad.mit.edu	37	chr3	134968200	134968200	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cttcccagcccctgctcgacCgctccatcccagacttcacg	6	8	6	21	3	1	1	1	0	0	1	5	2	4	1	6	0	2	2	6	0	0	2	rs143309901	byFrequency	TCGA-HC-8259-01A-11D-2260-08	TCGA-HC-8259-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a3672a-baa0-4d94-aad4-c88dfc3d357f	a537ec83-4cbe-4ddc-9116-39468c6bd4bb	g.chr3:134968200C>T	ENST00000398015.3	+	15	3083	c.2713C>T	c.(2713-2715)Cgc>Tgc	p.R905C	EPHB1_ENST00000493838.1_Missense_Mutation_p.R466C	NM_004441.4	NP_004432.1	P54762	EPHB1_HUMAN	EPH receptor B1	905					angiogenesis (GO:0001525)|axon guidance (GO:0007411)|camera-type eye morphogenesis (GO:0048593)|cell chemotaxis (GO:0060326)|cell-substrate adhesion (GO:0031589)|central nervous system projection neuron axonogenesis (GO:0021952)|dendritic spine development (GO:0060996)|dendritic spine morphogenesis (GO:0060997)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|ephrin receptor signaling pathway (GO:0048013)|establishment of cell polarity (GO:0030010)|neural precursor cell proliferation (GO:0061351)|neurogenesis (GO:0022008)|optic nerve morphogenesis (GO:0021631)|positive regulation of synapse assembly (GO:0051965)|protein autophosphorylation (GO:0046777)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of JNK cascade (GO:0046328)|retinal ganglion cell axon guidance (GO:0031290)	axon (GO:0030424)|early endosome membrane (GO:0031901)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|transmembrane-ephrin receptor activity (GO:0005005)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						CCTGCTCGACCGCTCCATCCC	0.592													C|||	3	0.000599042	0	0	5008	,	,		21200	0.003		0	False		,,,				2504	0					ENST00000398015.3																			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						c.(2713-2715)Cgc>Tgc		EPH receptor B1							69	73	72					3																	134968200		2129	4241	6370	SO:0001583	missense	2047					integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding	g.chr3:134968200C>T	L40636	CCDS46921.1	3q21-q23	2013-02-11	2004-10-28			ENSG00000154928		"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3392	protein-coding gene	gene with protein product		600600	"EphB1"	EPHT2		8666391	Standard	NM_004441		Approved	Hek6	uc003eqt.3	P54762		ENST00000398015.3:c.2713C>T	3.37:g.134968200C>T	ENSP00000381097:p.Arg905Cys					EPHB1_ENST00000493838.1_Missense_Mutation_p.R466C	p.R905C	NM_004441.4	NP_004432.1	P54762	EPHB1_HUMAN			15	3083	+			905					A8K593|B3KTB2|B5A969|O43569|O95142|O95143|Q0VG87	Missense_Mutation	SNP	ENST00000398015.3	37	c.2713C>T	CCDS46921.1	2	9.157509157509158E-4	0	0.0	0	0.0	2	0.0034965034965034965	0	0.0	C	24.9	4.586844	0.86851	.	.	ENSG00000154928	ENST00000398015;ENST00000493838	T;T	0.62639	0.01;0.01	5.43	5.43	0.79202	Sterile alpha motif/pointed domain (1);	0.054554	0.64402	D	0.000001	T	0.77308	0.4111	M	0.86343	2.81	0.80722	D	1	D	0.67145	0.996	P	0.51918	0.684	T	0.82028	-0.0660	10	0.87932	D	0	.	19.4372	0.94801	0.0:1.0:0.0:0.0	.	905	P54762	EPHB1_HUMAN	C	905;466	ENSP00000381097:R905C;ENSP00000419574:R466C	ENSP00000381097:R905C	R	+	1	0	EPHB1	136450890	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.684000	0.61686	2.827000	0.97445	0.650000	0.86243	CGC		0.592	EPHB1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357671.1	NM_004441		4	84	0	0	0	1	0	4	84					T	134968200	C	T	134968200	3	4	232	1	0	0	0	0	1	0	0	0	5174	652	23	2	2771	2	EPHB1	3	134968200	Missense_Mutation	SNP	C	TCGA-HC-8259-01A-11D-2260-08	10835851	134968200	63054230	20	10786											
SOX14	8403	broad.mit.edu	37	chr3	137483867	137483867	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actacaagtaccgacctcggCgcaagcccaagaacctgctc	12	5	8	16	3	0	1	0	0	0	1	2	2	0	1	4	1	5	3	4	1	6	2			TCGA-HC-8259-01A-11D-2260-08	TCGA-HC-8259-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a3672a-baa0-4d94-aad4-c88dfc3d357f	a537ec83-4cbe-4ddc-9116-39468c6bd4bb	g.chr3:137483867C>T	ENST00000306087.1	+	1	289	c.241C>T	c.(241-243)Cgc>Tgc	p.R81C		NM_004189.3	NP_004180.1	O95416	SOX14_HUMAN	SRY (sex determining region Y)-box 14	81					entrainment of circadian clock (GO:0009649)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|regulation of neuron migration (GO:2001222)|visual perception (GO:0007601)	nuclear transcription factor complex (GO:0044798)	chromatin binding (GO:0003682)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			large_intestine(2)|lung(12)	14						CCGACCTCGGCGCAAGCCCAA	0.632																																						ENST00000306087.1																			0				large_intestine(2)|lung(12)	14						c.(241-243)Cgc>Tgc		SRY (sex determining region Y)-box 14							133	145	141					3																	137483867		2203	4300	6503	SO:0001583	missense	8403				negative regulation of transcription from RNA polymerase II promoter|nervous system development|transcription, DNA-dependent	nucleus	sequence-specific DNA binding	g.chr3:137483867C>T	AJ006230	CCDS3094.1	3q22-q23	2008-07-18			ENSG00000168875	ENSG00000168875		"SRY (sex determining region Y)-boxes"	11193	protein-coding gene	gene with protein product	"HMG box transcription factor SOX-14", "SRY-box 14"	604747				9925951	Standard	NM_004189		Approved	SOX28	uc003erm.2	O95416	OTTHUMG00000159757	ENST00000306087.1:c.241C>T	3.37:g.137483867C>T	ENSP00000305343:p.Arg81Cys						p.R81C	NM_004189.3	NP_004180.1	O95416	SOX14_HUMAN			1	289	+			81					B2RAC0|Q3KPH7	Missense_Mutation	SNP	ENST00000306087.1	37	c.241C>T	CCDS3094.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.181198	0.78677	.	.	ENSG00000168875	ENST00000306087	D	0.92348	-3.02	4.98	4.98	0.66077	High mobility group, HMG1/HMG2 (1);	0.000000	0.85682	D	0.000000	D	0.95379	0.8500	M	0.61703	1.905	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95726	0.8770	10	0.87932	D	0	.	18.0345	0.89296	0.0:1.0:0.0:0.0	.	81	O95416	SOX14_HUMAN	C	81	ENSP00000305343:R81C	ENSP00000305343:R81C	R	+	1	0	SOX14	138966557	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	3.893000	0.56243	2.595000	0.87683	0.511000	0.50034	CGC		0.632	SOX14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357182.1	NM_004189		4	43	0	0	0	1	0	4	43					T	137483867	C	T	137483867	3	4	232	1	0	0	0	0	1	0	0	0	14945	768	27	1	243	1	SOX14	3	137483867	Missense_Mutation	SNP	C	TCGA-HC-8259-01A-11D-2260-08	2515667	137483867	60538563	21	10787											
GC	2638	broad.mit.edu	37	chr4	72623867	72623867	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agatcagcagtaggcactttTtgggctaactttatgagatt	11	14	10	6	0	1	2	1	1	0	2	1	3	1	2	0	2	2	4	0	2	3	7			TCGA-HC-8259-01A-11D-2260-08	TCGA-HC-8259-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a3672a-baa0-4d94-aad4-c88dfc3d357f	a537ec83-4cbe-4ddc-9116-39468c6bd4bb	g.chr4:72623867T>C	ENST00000273951.8	-	7	1066	c.723A>G	c.(721-723)caA>caG	p.Q241Q	GC_ENST00000504199.1_Silent_p.Q260Q|GC_ENST00000513476.1_Silent_p.Q241Q|RNA5SP163_ENST00000410304.1_RNA|GC_ENST00000503472.1_5'UTR	NM_000583.3|NM_001204306.1	NP_000574.2|NP_001191235.1	P02774	VTDB_HUMAN	group-specific component (vitamin D binding protein)	241	Albumin 2. {ECO:0000255|PROSITE- ProRule:PRU00769}.				small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)|vitamin transport (GO:0051180)	blood microparticle (GO:0072562)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)	actin binding (GO:0003779)|calcidiol binding (GO:1902118)|vitamin D binding (GO:0005499)|vitamin transporter activity (GO:0051183)			endometrium(5)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	45		all_hematologic(202;0.107)	Lung(101;0.148)		Alfacalcidol(DB01436)|Cholecalciferol(DB00169)	TAGGCACTTTTTGGGCTAACT	0.388																																						ENST00000273951.8																			0				endometrium(5)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	45						c.(721-723)caA>caG		group-specific component (vitamin D binding protein)	Cholecalciferol(DB00169)						127	126	126					4																	72623867		2203	4300	6503	SO:0001819	synonymous_variant	2638				hormone biosynthetic process|vitamin D metabolic process	cytosol|lysosomal lumen	actin binding|vitamin D binding|vitamin transporter activity	g.chr4:72623867T>C	L10641	CCDS3550.1, CCDS56332.1	4q12-q13	2008-08-29			ENSG00000145321	ENSG00000145321			4187	protein-coding gene	gene with protein product		139200				558959	Standard	NM_000583		Approved	DBP, VDBP, hDBP	uc010iif.3	P02774	OTTHUMG00000129915	ENST00000273951.8:c.723A>G	4.37:g.72623867T>C						GC_ENST00000513476.1_Silent_p.Q241Q|GC_ENST00000503472.1_5'UTR|GC_ENST00000504199.1_Silent_p.Q260Q	p.Q241Q	NM_000583.3|NM_001204306.1	NP_000574.2|NP_001191235.1	P02774	VTDB_HUMAN	Lung(101;0.148)		7	1066	-		all_hematologic(202;0.107)	241			Albumin 2.		B4DPP2|D6RAK8|Q16309|Q16310|Q53F31|Q6GTG1	Silent	SNP	ENST00000273951.8	37	c.723A>G	CCDS3550.1																																																																																				0.388	GC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252167.2			52	64	0	0	0	1	0	52	64					C	72623867	T	C	72623867	2	2	232	1	0	0	0	0	0	0	0	1	6282	1838	64	4		4	GC	4	72623867	Silent	SNP	T	TCGA-HC-8259-01A-11D-2260-08		72623867	118530409	22	10788											
BMP2K	55589	broad.mit.edu	37	chr4	79832021	79832021	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gggaacaaggagattttaatGatgatgatactgaaccagaa	17	9	11	4	0	0	6	0	4	0	2	0	8	0	7	1	2	3	0	1	2	6	3			TCGA-HC-8259-01A-11D-2260-08	TCGA-HC-8259-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a3672a-baa0-4d94-aad4-c88dfc3d357f	a537ec83-4cbe-4ddc-9116-39468c6bd4bb	g.chr4:79832021G>A	ENST00000335016.5	+	16	2486	c.2320G>A	c.(2320-2322)Gat>Aat	p.D774N	PAQR3_ENST00000295462.3_Intron	NM_198892.1	NP_942595.1	Q9NSY1	BMP2K_HUMAN	BMP2 inducible kinase	774					regulation of bone mineralization (GO:0030500)	nucleus (GO:0005634)	ATP binding (GO:0005524)|phosphatase regulator activity (GO:0019208)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	13						AGATTTTAATGATGATGATAC	0.413																																						ENST00000335016.5																			0				NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	13						c.(2320-2322)Gat>Aat		BMP2 inducible kinase							54	51	52					4																	79832021		1879	4094	5973	SO:0001583	missense	55589					nucleus	ATP binding|protein serine/threonine kinase activity	g.chr4:79832021G>A	AB015331	CCDS34019.1, CCDS47083.1	4q21.21	2008-05-15			ENSG00000138756	ENSG00000138756			18041	protein-coding gene	gene with protein product							Standard	NM_017593		Approved	DKFZp434K0614, BIKe	uc003hlk.3	Q9NSY1	OTTHUMG00000160900	ENST00000335016.5:c.2320G>A	4.37:g.79832021G>A	ENSP00000334836:p.Asp774Asn					PAQR3_ENST00000295462.3_Intron	p.D774N	NM_198892.1	NP_942595.1	Q9NSY1	BMP2K_HUMAN			16	2486	+			774					O94791|Q4W5H2|Q8IYF2|Q8N2G7|Q8NHG9|Q9NTG8	Missense_Mutation	SNP	ENST00000335016.5	37	c.2320G>A	CCDS47083.1	.	.	.	.	.	.	.	.	.	.	G	13.34	2.207239	0.39003	.	.	ENSG00000138756	ENST00000335016	T	0.76709	-1.04	5.67	5.67	0.87782	.	0.000000	0.64402	D	0.000012	D	0.87430	0.6175	M	0.63428	1.95	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.87526	0.2449	10	0.66056	D	0.02	-23.4612	19.7695	0.96357	0.0:0.0:1.0:0.0	.	774	Q9NSY1	BMP2K_HUMAN	N	774	ENSP00000334836:D774N	ENSP00000334836:D774N	D	+	1	0	BMP2K	80051045	1.000000	0.71417	0.998000	0.56505	0.018000	0.09664	6.674000	0.74487	2.688000	0.91661	0.555000	0.69702	GAT		0.413	BMP2K-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_017593		20	24	0	0	0	1	0	20	24					A	79832021	G	A	79832021	3	1	232	1	0	0	0	0	1	0	0	0	1460	1290	45	3	2420	3	BMP2K	4	79832021	Missense_Mutation	SNP	G	TCGA-HC-8259-01A-11D-2260-08	7208154	79832021	111322255	23	10789											
AGXT2L1	64850	broad.mit.edu	37	chr4	109668005	109668005	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ttccaataaaaaggccaatgCccctgcgagaggtgaagaaa	16	6	10	9	1	0	3	0	1	0	2	1	4	1	3	4	2	2	0	4	2	7	2			TCGA-HC-8259-01A-11D-2260-08	TCGA-HC-8259-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a3672a-baa0-4d94-aad4-c88dfc3d357f	a537ec83-4cbe-4ddc-9116-39468c6bd4bb	g.chr4:109668005C>A	ENST00000296486.3	-	10	1239	c.1085G>T	c.(1084-1086)gGc>gTc	p.G362V	ETNPPL_ENST00000512646.1_Missense_Mutation_p.G304V|ETNPPL_ENST00000411864.2_Missense_Mutation_p.G356V|ETNPPL_ENST00000510706.1_Missense_Mutation_p.G322V	NM_001146590.1|NM_031279.3	NP_001140062.1|NP_112569.2	Q8TBG4	AT2L1_HUMAN	ethanolamine-phosphate phospho-lyase	362						mitochondrion (GO:0005739)	ethanolamine-phosphate phospho-lyase activity (GO:0050459)|pyridoxal phosphate binding (GO:0030170)|transaminase activity (GO:0008483)										AAGGCCAATGCCCCTGCGAGA	0.428																																						ENST00000296486.3																			0											c.(1084-1086)gGc>gTc		ethanolamine-phosphate phospho-lyase							120	123	122					4																	109668005		2203	4300	6503	SO:0001583	missense	64850							g.chr4:109668005C>A	AJ298293	CCDS3682.1, CCDS54792.1, CCDS54793.1	4q25	2013-06-12	2013-06-12	2013-06-12	ENSG00000164089	ENSG00000164089	4.2.3.2		14404	protein-coding gene	gene with protein product		614682	"alanine-glyoxylate aminotransferase 2-like 1"	AGXT2L1		7592550, 22241472	Standard	NM_031279		Approved		uc003hzc.3	Q8TBG4	OTTHUMG00000161036	ENST00000296486.3:c.1085G>T	4.37:g.109668005C>A	ENSP00000296486:p.Gly362Val					ETNPPL_ENST00000510706.1_Missense_Mutation_p.G322V|ETNPPL_ENST00000512646.1_Missense_Mutation_p.G304V|ETNPPL_ENST00000411864.2_Missense_Mutation_p.G356V	p.G362V	NM_001146590.1|NM_031279.3	NP_001140062.1|NP_112569.2					10	1239	-								B7Z1Y0|E9PBY0|Q9H174	Missense_Mutation	SNP	ENST00000296486.3	37	c.1085G>T	CCDS3682.1	.	.	.	.	.	.	.	.	.	.	C	18.11	3.550200	0.65311	.	.	ENSG00000164089	ENST00000296486;ENST00000411864;ENST00000512646;ENST00000510706	T;T;T;T	0.53857	0.6;0.6;0.6;0.6	5.02	5.02	0.67125	Pyridoxal phosphate-dependent transferase, major region, subdomain 2 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.000000	0.85682	D	0.000000	D	0.83321	0.5229	H	0.98407	4.225	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.80764	0.994;0.99;0.994	D	0.90102	0.4185	9	.	.	.	-15.3665	16.8998	0.86110	0.0:1.0:0.0:0.0	.	304;356;362	E9PBY0;Q8TBG4-2;Q8TBG4	.;.;AT2L1_HUMAN	V	362;356;304;322	ENSP00000296486:G362V;ENSP00000392269:G356V;ENSP00000427065:G304V;ENSP00000423240:G322V	.	G	-	2	0	AGXT2L1	109887454	1.000000	0.71417	0.935000	0.37517	0.350000	0.29205	7.417000	0.80156	2.485000	0.83878	0.650000	0.86243	GGC		0.428	ETNPPL-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000363508.1	NM_031279		10	79	1	0	2.17888e-05	1	2.33831e-05	10	79					A	109668005	C	A	109668005	3	1	232	1	0	0	0	0	1	0	0	0	406	739	26	5	430	5	AGXT2L1	4	109668005	Missense_Mutation	SNP	C	TCGA-HC-8259-01A-11D-2260-08	29835984	109668005	81486271	24	10790											
TARS	6897	broad.mit.edu	37	chr5	33461117	33461117	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agcactcacaggactcacccGggtacgaagattccaacagg	13	5	10	13	2	2	1	2	0	0	1	3	3	3	2	2	3	3	2	2	3	3	2			TCGA-HC-8259-01A-11D-2260-08	TCGA-HC-8259-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a3672a-baa0-4d94-aad4-c88dfc3d357f	a537ec83-4cbe-4ddc-9116-39468c6bd4bb	g.chr5:33461117G>A	ENST00000265112.3	+	12	1672	c.1361G>A	c.(1360-1362)cGg>cAg	p.R454Q	TARS_ENST00000414361.2_Missense_Mutation_p.R333Q|TARS_ENST00000502553.1_Missense_Mutation_p.R454Q|TARS_ENST00000455217.2_Missense_Mutation_p.R487Q|TARS_ENST00000541634.1_Missense_Mutation_p.R350Q|TARS_ENST00000509410.1_3'UTR	NM_152295.4	NP_689508.3	P26639	SYTC_HUMAN	threonyl-tRNA synthetase	454					gene expression (GO:0010467)|threonyl-tRNA aminoacylation (GO:0006435)|translation (GO:0006412)|tRNA aminoacylation for protein translation (GO:0006418)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|protein homodimerization activity (GO:0042803)|threonine-tRNA ligase activity (GO:0004829)			NS(1)|biliary_tract(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)	29					L-Threonine(DB00156)	GGACTCACCCGGGTACGAAGA	0.498																																						ENST00000265112.3																			0				NS(1)|biliary_tract(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)	29						c.(1360-1362)cGg>cAg		threonyl-tRNA synthetase	L-Threonine(DB00156)						87	88	88					5																	33461117		2203	4300	6503	SO:0001583	missense	6897				threonyl-tRNA aminoacylation	cytosol	ATP binding|protein homodimerization activity|threonine-tRNA ligase activity	g.chr5:33461117G>A	AK095852	CCDS3899.1, CCDS58943.1	5p13.2	2012-10-02			ENSG00000113407	ENSG00000113407	6.1.1.3	"Aminoacyl tRNA synthetases / Class II"	11572	protein-coding gene	gene with protein product	"threonine tRNA ligase 1, cytoplasmic"	187790					Standard	NM_152295		Approved		uc011coc.3	P26639	OTTHUMG00000090683	ENST00000265112.3:c.1361G>A	5.37:g.33461117G>A	ENSP00000265112:p.Arg454Gln					TARS_ENST00000541634.1_Missense_Mutation_p.R350Q|TARS_ENST00000509410.1_3'UTR|TARS_ENST00000502553.1_Missense_Mutation_p.R454Q|TARS_ENST00000414361.2_Missense_Mutation_p.R333Q|TARS_ENST00000455217.2_Missense_Mutation_p.R487Q	p.R454Q	NM_152295.4	NP_689508.3	P26639	SYTC_HUMAN			12	1672	+			454					A8K8I1|B4DEG8|Q96FP5|Q9BWA6	Missense_Mutation	SNP	ENST00000265112.3	37	c.1361G>A	CCDS3899.1	.	.	.	.	.	.	.	.	.	.	G	36	5.910587	0.97093	.	.	ENSG00000113407	ENST00000502553;ENST00000265112;ENST00000541634;ENST00000455217;ENST00000414361	D;D;D;D;D	0.96830	-4.14;-4.14;-4.14;-4.14;-4.14	6.17	6.17	0.99709	Aminoacyl-tRNA synthetase, class II (1);Aminoacyl-tRNA synthetase, class II (G/ H/ P/ S), conserved domain (1);	0.000000	0.85682	D	0.000000	D	0.99417	0.9794	H	0.99992	5.355	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;0.997;1.0	D;D;D;D	0.85130	0.997;0.988;0.944;0.988	D	0.97583	1.0112	10	0.87932	D	0	-1.1692	20.8794	0.99867	0.0:0.0:1.0:0.0	.	333;487;350;454	E7ERI3;B4DEG8;G3XAN9;P26639	.;.;.;SYTC_HUMAN	Q	454;454;350;487;333	ENSP00000424387:R454Q;ENSP00000265112:R454Q;ENSP00000438469:R350Q;ENSP00000387710:R487Q;ENSP00000394291:R333Q	ENSP00000265112:R454Q	R	+	2	0	TARS	33496874	1.000000	0.71417	0.999000	0.59377	0.988000	0.76386	9.835000	0.99442	2.941000	0.99782	0.655000	0.94253	CGG		0.498	TARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207367.1	NM_152295		7	88	0	0	0	1	0	7	88					A	33461117	G	A	33461117	3	1	232	1	0	0	0	0	1	0	0	0	15556	1116	39	2	1407	2	TARS	5	33461117	Missense_Mutation	SNP	G	TCGA-HC-8259-01A-11D-2260-08		33461117	147454143	25	10791											
WDR70	55100	broad.mit.edu	37	chr5	37379473	37379473	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggggtgtgcggccagccatgGagcgctctgggcccagcgaa	6	5	18	12	3	1	0	0	0	1	0	1	2	1	1	3	5	4	1	3	5	1	0			TCGA-HC-8259-01A-11D-2260-08	TCGA-HC-8259-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a3672a-baa0-4d94-aad4-c88dfc3d357f	a537ec83-4cbe-4ddc-9116-39468c6bd4bb	g.chr5:37379473G>T	ENST00000265107.4	+	1	160	c.4G>T	c.(4-6)Gag>Tag	p.E2*	WDR70_ENST00000504564.1_Nonsense_Mutation_p.E2*	NM_018034.2	NP_060504.1	Q9NW82	WDR70_HUMAN	WD repeat domain 70	2							enzyme binding (GO:0019899)			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	all_lung(31;0.000285)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			GCCAGCCATGGAGCGCTCTGG	0.657																																						ENST00000265107.4																			0				central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						c.(4-6)Gag>Tag		WD repeat domain 70							76	90	85					5																	37379473		2203	4300	6503	SO:0001587	stop_gained	55100							g.chr5:37379473G>T	BC009648	CCDS34147.1	5p13.2	2013-01-09			ENSG00000082068	ENSG00000082068		"WD repeat domain containing"	25495	protein-coding gene	gene with protein product						12477932	Standard	NM_018034		Approved	FLJ10233	uc003jkv.3	Q9NW82	OTTHUMG00000162263	ENST00000265107.4:c.4G>T	5.37:g.37379473G>T	ENSP00000265107:p.Glu2*					WDR70_ENST00000504564.1_Nonsense_Mutation_p.E2*	p.E2*	NM_018034.2	NP_060504.1	Q9NW82	WDR70_HUMAN	COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		1	160	+	all_lung(31;0.000285)		2					Q9H053	Nonsense_Mutation	SNP	ENST00000265107.4	37	c.4G>T	CCDS34147.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.139242	0.77775	.	.	ENSG00000082068	ENST00000265107;ENST00000504564	.	.	.	4.07	4.07	0.47477	.	0.476655	0.14375	U	0.323554	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	0.3277	13.61	0.62071	0.0:0.0:1.0:0.0	.	.	.	.	X	2	.	ENSP00000265107:E2X	E	+	1	0	WDR70	37415230	1.000000	0.71417	0.995000	0.50966	0.225000	0.24961	4.575000	0.60908	2.273000	0.75805	0.557000	0.71058	GAG		0.657	WDR70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368294.1	NM_018034		18	236	1	0	5.45024e-15	1	6.3108e-15	18	236					T	37379473	G	T	37379473	4	4	232	1	0	0	0	0	0	1	0	0	17318	1175	41	5	6	5	WDR70	5	37379473	Nonsense_Mutation	SNP	G	TCGA-HC-8259-01A-11D-2260-08	3918356	37379473	143535787	26	10792											
BTNL9	153579	broad.mit.edu	37	chr5	180486695	180486695	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccacgacaccttctcgggcGcgctctgtgcgtacttcagg	5	10	11	15	5	3	0	1	0	2	0	5	1	4	0	2	2	2	2	2	2	1	3			TCGA-HC-8259-01A-11D-2260-08	TCGA-HC-8259-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a3672a-baa0-4d94-aad4-c88dfc3d357f	a537ec83-4cbe-4ddc-9116-39468c6bd4bb	g.chr5:180486695G>T	ENST00000327705.9	+	11	1672	c.1441G>T	c.(1441-1443)Gcg>Tcg	p.A481S	BTNL9_ENST00000376842.3_Missense_Mutation_p.A482S	NM_152547.4	NP_689760.2	Q6UXG8	BTNL9_HUMAN	butyrophilin-like 9	481	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.					integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(10)|ovary(1)	19	all_cancers(89;2.45e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CTTCTCGGGCGCGCTCTGTGC	0.667																																						ENST00000327705.9																			0				breast(2)|central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(10)|ovary(1)	19						c.(1441-1443)Gcg>Tcg		butyrophilin-like 9							37	35	36					5																	180486695		2203	4300	6503	SO:0001583	missense	153579					integral to membrane		g.chr5:180486695G>T	AK057097	CCDS4460.2	5q35.3	2014-01-14			ENSG00000165810	ENSG00000165810		"Immunoglobulin superfamily / V-set domain containing", "Butyrophilins"	24176	protein-coding gene	gene with protein product							Standard	NM_152547		Approved	FLJ32535, BTN8	uc003mmt.3	Q6UXG8	OTTHUMG00000133152	ENST00000327705.9:c.1441G>T	5.37:g.180486695G>T	ENSP00000330200:p.Ala481Ser					BTNL9_ENST00000376842.3_Missense_Mutation_p.A482S	p.A481S	NM_152547.4	NP_689760.2	Q6UXG8	BTNL9_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		11	1672	+	all_cancers(89;2.45e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	481			B30.2/SPRY.		A6NL42|Q6P660|Q96DM5	Missense_Mutation	SNP	ENST00000327705.9	37	c.1441G>T	CCDS4460.2	.	.	.	.	.	.	.	.	.	.	g	9.256	1.042074	0.19748	.	.	ENSG00000165810	ENST00000327705;ENST00000376842	T;T	0.60920	0.15;0.15	4.22	-7.0	0.01599	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	1.157270	0.06801	U	0.788764	T	0.31918	0.0812	N	0.20357	0.565	0.09310	N	0.999999	B	0.09022	0.002	B	0.17433	0.018	T	0.19386	-1.0307	10	0.14656	T	0.56	.	4.5035	0.11876	0.2159:0.4869:0.2028:0.0945	.	481	Q6UXG8	BTNL9_HUMAN	S	481;482	ENSP00000330200:A481S;ENSP00000366038:A482S	ENSP00000330200:A481S	A	+	1	0	BTNL9	180419301	0.000000	0.05858	0.011000	0.14972	0.021000	0.10359	-0.392000	0.07314	-1.343000	0.02219	0.449000	0.29647	GCG		0.667	BTNL9-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000157342.3	NM_152547		3	34	1	0	0.00909568	1	0.00952881	3	34					T	180486695	G	T	180486695	3	4	232	1	0	0	0	0	1	0	0	0	1568	1087	38	5	1479	5	BTNL9	5	180486695	Missense_Mutation	SNP	G	TCGA-HC-8259-01A-11D-2260-08	143107222	180486695	428565	27	10793											
MAK	4117	broad.mit.edu	37	chr6	10802138	10802138	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctcttacctggcttgctgtcGgtcgtttctttggatcccaa	4	16	9	12	2	2	0	0	0	2	0	5	1	3	1	2	3	2	3	2	3	2	4	rs149734152		TCGA-HC-8259-01A-11D-2260-08	TCGA-HC-8259-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a3672a-baa0-4d94-aad4-c88dfc3d357f	a537ec83-4cbe-4ddc-9116-39468c6bd4bb	g.chr6:10802138G>T	ENST00000313243.2	-	8	1200	c.818C>A	c.(817-819)cCg>cAg	p.P273Q	MAK_ENST00000536370.1_Missense_Mutation_p.P273Q|MAK_ENST00000538030.1_Missense_Mutation_p.P273Q|MAK_ENST00000474039.1_Missense_Mutation_p.P273Q|SYCP2L_ENST00000543878.1_Intron|MAK_ENST00000354489.2_Missense_Mutation_p.P273Q|RP11-637O19.3_ENST00000480294.1_Intron			P20794	MAK_HUMAN	male germ cell-associated kinase	273	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|photoreceptor cell maintenance (GO:0045494)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|midbody (GO:0030496)|mitotic spindle (GO:0072686)|nucleus (GO:0005634)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672)|transcription coactivator activity (GO:0003713)			breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(8)|prostate(1)|skin(1)	22	Breast(50;0.107)|Ovarian(93;0.107)	all_hematologic(90;0.117)				GCTTGCTGTCGGTCGTTTCTT	0.383											OREG0017187	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000313243.2																			0				breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(8)|prostate(1)|skin(1)	22						c.(817-819)cCg>cAg		male germ cell-associated kinase							108	102	104					6																	10802138		2203	4300	6503	SO:0001583	missense	4117				cell differentiation|multicellular organismal development|spermatogenesis		ATP binding|cyclin-dependent protein kinase activity	g.chr6:10802138G>T		CCDS4516.1, CCDS75398.1, CCDS75399.1	6p24.2	2014-01-28			ENSG00000111837	ENSG00000111837			6816	protein-coding gene	gene with protein product		154235				16951154	Standard	NM_005906		Approved	dJ417M14.2, RP62	uc021ylk.1	P20794	OTTHUMG00000014247	ENST00000313243.2:c.818C>A	6.37:g.10802138G>T	ENSP00000313021:p.Pro273Gln		OREG0017187	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	667	SYCP2L_ENST00000543878.1_Intron|MAK_ENST00000474039.1_Missense_Mutation_p.P273Q|MAK_ENST00000538030.1_Missense_Mutation_p.P273Q|MAK_ENST00000536370.1_Missense_Mutation_p.P273Q|MAK_ENST00000354489.2_Missense_Mutation_p.P273Q|RP11-637O19.3_ENST00000480294.1_Intron	p.P273Q			P20794	MAK_HUMAN			8	1200	-	Breast(50;0.107)|Ovarian(93;0.107)	all_hematologic(90;0.117)	273			Protein kinase.		F1T0K6|G1FL29|Q547D0|Q9NUH7	Missense_Mutation	SNP	ENST00000313243.2	37	c.818C>A	CCDS4516.1	.	.	.	.	.	.	.	.	.	.	G	29.5	5.012322	0.93346	.	.	ENSG00000111837	ENST00000313243;ENST00000354489;ENST00000538030;ENST00000536370	T;T;T;T	0.68025	-0.3;-0.3;-0.3;-0.3	5.42	5.42	0.78866	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.052150	0.85682	D	0.000000	D	0.83663	0.5303	M	0.88377	2.95	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.86106	0.1559	10	0.87932	D	0	.	19.6002	0.95559	0.0:0.0:1.0:0.0	.	273	P20794	MAK_HUMAN	Q	273	ENSP00000313021:P273Q;ENSP00000346484:P273Q;ENSP00000442250:P273Q;ENSP00000442221:P273Q	ENSP00000313021:P273Q	P	-	2	0	MAK	10910124	1.000000	0.71417	0.999000	0.59377	0.988000	0.76386	9.291000	0.96070	2.691000	0.91804	0.655000	0.94253	CCG		0.383	MAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039841.1	NM_005906		5	99	1	0	5.18039e-06	1	5.62808e-06	5	99					T	10802138	G	T	10802138	3	4	232	1	0	0	0	0	1	0	0	0	9197	1116	39	5	1081	5	MAK	6	10802138	Missense_Mutation	SNP	G	TCGA-HC-8259-01A-11D-2260-08		10802138	160312929	28	10794											
ARID1B	57492	broad.mit.edu	37	chr6	157527453	157527453	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacagccagtccttggcagaCgattctgggaaagaggagga	12	6	15	8	1	1	2	0	0	1	2	2	7	2	5	2	4	1	1	2	4	1	2	rs189662115	byFrequency	TCGA-HC-8259-01A-11D-2260-08	TCGA-HC-8259-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a3672a-baa0-4d94-aad4-c88dfc3d357f	a537ec83-4cbe-4ddc-9116-39468c6bd4bb	g.chr6:157527453C>T	ENST00000350026.5	+	19	5140	c.5139C>T	c.(5137-5139)gaC>gaT	p.D1713D	ARID1B_ENST00000275248.4_Silent_p.D1708D|ARID1B_ENST00000346085.5_Silent_p.D1726D|ARID1B_ENST00000367148.1_Silent_p.D1766D	NM_017519.2	NP_059989.2	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	1713				D -> N (in Ref. 7; AAL76077). {ECO:0000305}.	chromatin-mediated maintenance of transcription (GO:0048096)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)			NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		CCTTGGCAGACGATTCTGGGA	0.473													C|||	3	0.000599042	8e-04	0	5008	,	,		22614	0		0.002	False		,,,				2504	0					ENST00000346085.5																			0				NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81						c.(5176-5178)gaC>gaT		AT rich interactive domain 1B (SWI1-like)		C	,	0,4406		0,0,2203	159	173	168		5139,5178	-10	0	6		168	2,8590	2.2+/-6.3	0,2,4294	no	coding-synonymous,coding-synonymous	ARID1B	NM_017519.2,NM_020732.3	,	0,2,6497	TT,TC,CC		0.0233,0.0,0.0154	,	1713/2237,1726/2250	157527453	2,12996	2203	4296	6499	SO:0001819	synonymous_variant	57492				chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity	g.chr6:157527453C>T	AF521671	CCDS5251.1, CCDS5251.2, CCDS55072.1	6q25.3	2014-09-17			ENSG00000049618	ENSG00000049618		"-"	18040	protein-coding gene	gene with protein product		614556					Standard	NM_017519		Approved	KIAA1235, ELD/OSA1, p250R, BAF250b, DAN15, 6A3-5	uc003qqo.3	Q8NFD5	OTTHUMG00000015890	ENST00000350026.5:c.5139C>T	6.37:g.157527453C>T						ARID1B_ENST00000275248.4_Silent_p.D1708D|ARID1B_ENST00000367148.1_Silent_p.D1766D|ARID1B_ENST00000350026.5_Silent_p.D1713D	p.D1726D	NM_020732.3	NP_065783.3	Q8NFD5	ARI1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)	20	5179	+		Breast(66;0.000162)|Ovarian(120;0.0265)	1713					Q5JRD1|Q5VYC4|Q8IZY8|Q8TEV0|Q8TF02|Q99491|Q9ULI5	Silent	SNP	ENST00000350026.5	37	c.5178C>T	CCDS5251.2																																																																																				0.473	ARID1B-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000372723.1	NM_020732		6	141	0	0	0	1	0	6	141					T	157527453	C	T	157527453	2	4	232	1	0	0	0	0	0	0	0	1	914	535	19	1		1	ARID1B	6	157527453	Silent	SNP	C	TCGA-HC-8259-01A-11D-2260-08	146725315	157527453	13587614	29	10795											
PLXNA4	91584	broad.mit.edu	37	chr7	131832692	131832692	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaggtcctggagacggtggAgttgttcactgcgttatagg	7	12	16	6	2	1	2	1	1	0	1	2	4	2	3	1	5	1	3	1	5	2	4			TCGA-HC-8259-01A-11D-2260-08	TCGA-HC-8259-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a3672a-baa0-4d94-aad4-c88dfc3d357f	a537ec83-4cbe-4ddc-9116-39468c6bd4bb	g.chr7:131832692A>T	ENST00000359827.3	-	27	5793	c.4831T>A	c.(4831-4833)Tcc>Acc	p.S1611T	PLXNA4_ENST00000321063.4_Missense_Mutation_p.S1611T			Q9HCM2	PLXA4_HUMAN	plexin A4	1611					anterior commissure morphogenesis (GO:0021960)|axon guidance (GO:0007411)|chemorepulsion of branchiomotor axon (GO:0021793)|facial nerve structural organization (GO:0021612)|glossopharyngeal nerve morphogenesis (GO:0021615)|postganglionic parasympathetic nervous system development (GO:0021784)|regulation of axon extension involved in axon guidance (GO:0048841)|regulation of negative chemotaxis (GO:0050923)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|sympathetic nervous system development (GO:0048485)|trigeminal nerve structural organization (GO:0021637)|vagus nerve morphogenesis (GO:0021644)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)			NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						GAGACGGTGGAGTTGTTCACT	0.542																																						ENST00000359827.3																			0				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						c.(4831-4833)Tcc>Acc		plexin A4							122	128	126					7																	131832692		2065	4210	6275	SO:0001583	missense	91584					integral to membrane|intracellular|plasma membrane		g.chr7:131832692A>T	AB046770, AK123428	CCDS5826.1, CCDS43646.1, CCDS43647.1	7q32.3	2007-09-26	2007-09-26	2007-09-26	ENSG00000221866	ENSG00000221866		"Plexins"	9102	protein-coding gene	gene with protein product		604280	"plexin A4, A", "plexin A4, B"	PLXNA4A, PLXNA4B			Standard	NM_181775		Approved	KIAA1550, DKFZp434G0625PRO34003, FAYV2820	uc003vra.4	Q9HCM2	OTTHUMG00000155108	ENST00000359827.3:c.4831T>A	7.37:g.131832692A>T	ENSP00000352882:p.Ser1611Thr					PLXNA4_ENST00000321063.4_Missense_Mutation_p.S1611T	p.S1611T			Q9HCM2	PLXA4_HUMAN			27	5793	-			1611					A4D1N6|E9PAM2|Q6UWC6|Q6ZW89|Q8N969|Q8ND00|Q8NEN3|Q9NTD4	Missense_Mutation	SNP	ENST00000359827.3	37	c.4831T>A	CCDS43646.1	.	.	.	.	.	.	.	.	.	.	A	17.64	3.440478	0.63067	.	.	ENSG00000221866	ENST00000321063;ENST00000359827	T;T	0.01015	5.44;5.44	5.54	5.54	0.83059	Plexin, cytoplasmic RasGAP domain (1);Rho GTPase activation protein (1);	2.800690	0.00853	N	0.001858	T	0.02193	0.0068	L	0.49350	1.555	0.80722	D	1	B	0.23128	0.08	B	0.24006	0.05	T	0.61222	-0.7106	10	0.23302	T	0.38	.	15.6745	0.77303	1.0:0.0:0.0:0.0	.	1611	Q9HCM2	PLXA4_HUMAN	T	1611	ENSP00000323194:S1611T;ENSP00000352882:S1611T	ENSP00000323194:S1611T	S	-	1	0	PLXNA4	131483232	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.791000	0.75120	2.120000	0.65058	0.459000	0.35465	TCC		0.542	PLXNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338422.2	NM_181775		7	87	0	0	0	1	0	7	87					T	131832692	A	T	131832692	3	4	232	1	0	0	0	0	1	0	0	0	12122	304	11	5	877	5	PLXNA4	7	131832692	Missense_Mutation	SNP	A	TCGA-HC-8259-01A-11D-2260-08		131832692	27305971	30	10796											
ZC3HAV1	56829	broad.mit.edu	37	chr7	138764410	138764410	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagcattattattaaaaagaGggccaggctggatgtcctga	13	10	11	7	0	0	2	0	1	0	1	1	3	1	3	2	3	1	2	2	3	5	3			TCGA-HC-8259-01A-11D-2260-08	TCGA-HC-8259-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a3672a-baa0-4d94-aad4-c88dfc3d357f	a537ec83-4cbe-4ddc-9116-39468c6bd4bb	g.chr7:138764410G>T	ENST00000242351.5	-	4	1593	c.1277C>A	c.(1276-1278)cCt>cAt	p.P426H	ZC3HAV1_ENST00000471652.1_Missense_Mutation_p.P426H|ZC3HAV1_ENST00000464606.1_Missense_Mutation_p.P426H	NM_020119.3	NP_064504.2	Q7Z2W4	ZCCHV_HUMAN	zinc finger CCCH-type, antiviral 1	426					defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of viral genome replication (GO:0045071)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of mRNA catabolic process (GO:0061014)|positive regulation of RIG-I signaling pathway (GO:1900246)|response to virus (GO:0009615)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|NAD+ ADP-ribosyltransferase activity (GO:0003950)|poly(A) RNA binding (GO:0044822)			cervix(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|prostate(4)|skin(1)	37						ATTAAAAAGAGGGCCAGGCTG	0.448																																						ENST00000242351.5																			0				cervix(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|prostate(4)|skin(1)	37						c.(1276-1278)cCt>cAt		zinc finger CCCH-type, antiviral 1							100	100	100					7																	138764410		2203	4300	6503	SO:0001583	missense	56829				response to virus	cytoplasm|nucleus	NAD+ ADP-ribosyltransferase activity|RNA binding|zinc ion binding	g.chr7:138764410G>T	BX571742	CCDS5851.1, CCDS55171.1	7q34	2012-07-05			ENSG00000105939	ENSG00000105939		"Zinc fingers, CCCH-type domain containing", "Poly (ADP-ribose) polymerases"	23721	protein-coding gene	gene with protein product	"zinc finger antiviral protein", " CCCH-type zinc finger antiviral protein"	607312				12215647, 12851707	Standard	NM_024625		Approved	ZAP, FLB6421, FLJ13288, MGC48898, ZC3HDC2, ZC3H2, PARP13	uc003vun.3	Q7Z2W4	OTTHUMG00000157471	ENST00000242351.5:c.1277C>A	7.37:g.138764410G>T	ENSP00000242351:p.Pro426His					ZC3HAV1_ENST00000464606.1_Missense_Mutation_p.P426H|ZC3HAV1_ENST00000471652.1_Missense_Mutation_p.P426H	p.P426H	NM_020119.3	NP_064504.2	Q7Z2W4	ZCCHV_HUMAN			4	1593	-			426					A4D1R2|A4D1S4|Q8IW57|Q8TAJ3|Q96N79|Q9H8R9|Q9P0Y7	Missense_Mutation	SNP	ENST00000242351.5	37	c.1277C>A	CCDS5851.1	.	.	.	.	.	.	.	.	.	.	G	13.31	2.197563	0.38806	.	.	ENSG00000105939	ENST00000242351;ENST00000464606;ENST00000471652;ENST00000540247	T;T;T	0.21543	3.07;3.05;2.0	4.49	2.63	0.31362	.	0.701101	0.13020	N	0.420175	T	0.29491	0.0735	L	0.32530	0.975	0.09310	N	1	D;D	0.76494	0.999;0.998	D;P	0.66979	0.948;0.888	T	0.07501	-1.0769	10	0.72032	D	0.01	.	6.2088	0.20617	0.1026:0.1884:0.709:0.0	.	426;426	Q7Z2W4-2;Q7Z2W4	.;ZCCHV_HUMAN	H	426;426;426;186	ENSP00000242351:P426H;ENSP00000418385:P426H;ENSP00000419855:P426H	ENSP00000242351:P426H	P	-	2	0	ZC3HAV1	138414950	0.001000	0.12720	0.000000	0.03702	0.004000	0.04260	0.689000	0.25437	0.591000	0.29711	-0.140000	0.14226	CCT		0.448	ZC3HAV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348915.1	NM_020119		7	57	1	0	1.26484e-09	1	1.40894e-09	7	57					T	138764410	G	T	138764410	3	4	232	1	0	0	0	0	1	0	0	0	17572	1000	35	5	1475	5	ZC3HAV1	7	138764410	Missense_Mutation	SNP	G	TCGA-HC-8259-01A-11D-2260-08	6931718	138764410	20374253	31	10797											
OR9A2	135924	broad.mit.edu	37	chr7	142723348	142723348	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagggcctctttgactttgTcattccgaagagtaaagatg	10	12	12	7	1	2	3	1	1	1	2	3	5	3	4	2	2	0	1	2	2	3	4	rs574290249		TCGA-HC-8259-01A-11D-2260-08	TCGA-HC-8259-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a3672a-baa0-4d94-aad4-c88dfc3d357f	a537ec83-4cbe-4ddc-9116-39468c6bd4bb	g.chr7:142723348T>C	ENST00000350513.2	-	1	934	c.872A>G	c.(871-873)gAc>gGc	p.D291G		NM_001001658.1	NP_001001658.1	Q8NGT5	OR9A2_HUMAN	olfactory receptor, family 9, subfamily A, member 2	291						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.D291V(1)		central_nervous_system(3)|endometrium(4)|large_intestine(1)|lung(14)|skin(3)	25	Melanoma(164;0.059)					TTTGACTTTGTCATTCCGAAG	0.458													T|||	1	0.000199681	0	0	5008	,	,		19757	0		0	False		,,,				2504	0.001					ENST00000350513.2																			1	Substitution - Missense(1)	p.D291V(1)	lung(1)	central_nervous_system(3)|endometrium(4)|large_intestine(1)|lung(14)|skin(3)	25						c.(871-873)gAc>gGc		olfactory receptor, family 9, subfamily A, member 2							87	93	91					7																	142723348		2203	4300	6503	SO:0001583	missense	135924				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr7:142723348T>C		CCDS34767.1	7q34	2014-07-10			ENSG00000179468	ENSG00000179468		"GPCR / Class A : Olfactory receptors"	15093	protein-coding gene	gene with protein product							Standard	NM_001001658		Approved		uc003wcc.1	Q8NGT5	OTTHUMG00000158386	ENST00000350513.2:c.872A>G	7.37:g.142723348T>C	ENSP00000316518:p.Asp291Gly						p.D291G	NM_001001658.1	NP_001001658.1	Q8NGT5	OR9A2_HUMAN			1	934	-	Melanoma(164;0.059)		291					B9EH51|Q6IF71|Q8NGD9	Missense_Mutation	SNP	ENST00000350513.2	37	c.872A>G	CCDS34767.1	.	.	.	.	.	.	.	.	.	.	T	15.96	2.987482	0.53934	.	.	ENSG00000179468	ENST00000350513	T	0.37235	1.21	4.59	4.59	0.56863	.	0.000000	0.41823	U	0.000811	T	0.29976	0.0750	N	0.11845	0.185	0.33409	D	0.578425	D	0.54772	0.968	P	0.50314	0.637	T	0.48468	-0.9033	10	0.87932	D	0	-14.6695	12.2123	0.54386	0.0:0.0:0.0:1.0	.	291	Q8NGT5	OR9A2_HUMAN	G	291	ENSP00000316518:D291G	ENSP00000316518:D291G	D	-	2	0	OR9A2	142433470	0.952000	0.32445	1.000000	0.80357	0.368000	0.29767	2.454000	0.44979	2.045000	0.60652	0.459000	0.35465	GAC		0.458	OR9A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350862.1			6	77	0	0	0	1	0	6	77					C	142723348	T	C	142723348	3	2	232	1	0	0	0	0	1	0	0	0	11248	1667	58	4	64	4	OR9A2	7	142723348	Missense_Mutation	SNP	T	TCGA-HC-8259-01A-11D-2260-08	3958938	142723348	16415315	32	10798											
NRG1	3084	broad.mit.edu	37	chr8	32620816	32620816	+	Intron	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccagctatcagcaactcatcTtagatcttcttccattcccc	9	13	3	16	0	5	1	2	0	3	1	7	1	7	1	4	0	3	2	4	0	3	5			TCGA-HC-8259-01A-11D-2260-08	TCGA-HC-8259-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a3672a-baa0-4d94-aad4-c88dfc3d357f	a537ec83-4cbe-4ddc-9116-39468c6bd4bb	g.chr8:32620816T>A	ENST00000405005.3	+	12	1268				NRG1_ENST00000539990.1_Intron|NRG1_ENST00000356819.4_Intron|NRG1_ENST00000519301.1_Intron|NRG1_ENST00000341377.5_Intron|RP11-1002K11.1_ENST00000607314.1_lincRNA|NRG1_ENST00000287842.3_Intron|NRG1_ENST00000521670.1_Missense_Mutation_p.L450H|NRG1_ENST00000287845.5_Intron|NRG1_ENST00000338921.4_Intron			Q02297	NRG1_HUMAN	neuregulin 1						activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|cardiac conduction system development (GO:0003161)|cardiac muscle cell differentiation (GO:0055007)|cardiac muscle cell myoblast differentiation (GO:0060379)|cell communication (GO:0007154)|cell migration (GO:0016477)|cell morphogenesis (GO:0000902)|cell proliferation (GO:0008283)|cellular protein complex disassembly (GO:0043624)|embryo development (GO:0009790)|endocardial cell differentiation (GO:0060956)|epidermal growth factor receptor signaling pathway (GO:0007173)|ERBB signaling pathway (GO:0038127)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glial cell fate commitment (GO:0021781)|innate immune response (GO:0045087)|locomotory behavior (GO:0007626)|mammary gland development (GO:0030879)|MAPK cascade (GO:0000165)|negative regulation of cardiac muscle cell apoptotic process (GO:0010667)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of secretion (GO:0051048)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|neural crest cell development (GO:0014032)|neuron fate commitment (GO:0048663)|neurotransmitter receptor metabolic process (GO:0045213)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peripheral nervous system development (GO:0007422)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell growth (GO:0030307)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of Ras protein signal transduction (GO:0046579)|positive regulation of striated muscle cell differentiation (GO:0051155)|regulation of protein heterodimerization activity (GO:0043497)|regulation of protein homodimerization activity (GO:0043496)|synapse assembly (GO:0007416)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|ventricular cardiac muscle cell differentiation (GO:0055012)|ventricular trabecula myocardium morphogenesis (GO:0003222)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|axon (GO:0030424)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)	cytokine activity (GO:0005125)|ErbB-3 class receptor binding (GO:0043125)|growth factor activity (GO:0008083)|protein tyrosine kinase activator activity (GO:0030296)|receptor binding (GO:0005102)|receptor tyrosine kinase binding (GO:0030971)|transcription cofactor activity (GO:0003712)|transmembrane receptor protein tyrosine kinase activator activity (GO:0030297)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(1)|skin(1)	39		Breast(100;0.203)		KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943)		GCAACTCATCTTAGATCTTCT	0.403																																						ENST00000521670.1																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(1)|skin(1)	39						c.(1348-1350)cTt>cAt		neuregulin 1							213	196	201					8																	32620816		2203	4300	6503	SO:0001627	intron_variant	3084				activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|cardiac muscle cell differentiation|cell communication|cell proliferation|cellular protein complex disassembly|embryo development|mammary gland development|negative regulation of cardiac muscle cell apoptosis|negative regulation of secretion|negative regulation of transcription, DNA-dependent|nervous system development|neural crest cell development|Notch signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of striated muscle cell differentiation|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|transmembrane receptor protein tyrosine kinase signaling pathway|ventricular cardiac muscle cell differentiation|wound healing	apical plasma membrane|extracellular region|extracellular space|integral to membrane|nucleus|plasma membrane	cytokine activity|ErbB-3 class receptor binding|growth factor activity|protein binding|protein tyrosine kinase activator activity|receptor tyrosine kinase binding|transcription cofactor activity|transmembrane receptor protein tyrosine kinase activator activity	g.chr8:32620816T>A	L12261	CCDS6084.1, CCDS6085.1, CCDS6086.1, CCDS6087.1, CCDS47836.1, CCDS55218.1, CCDS55219.1, CCDS75727.1	8p21-p12	2014-06-23			ENSG00000157168	ENSG00000157168		"Immunoglobulin superfamily / I-set domain containing"	7997	protein-coding gene	gene with protein product		142445	"NRG1 intronic transcript 2 (non-protein coding)"	HGL, NRG1-IT2		1350381, 8095334	Standard	NM_013962		Approved	HRG, NDF, GGF	uc003xiu.2	Q02297	OTTHUMG00000163918	ENST00000405005.3:c.1269-450T>A	8.37:g.32620816T>A						NRG1_ENST00000519301.1_Intron|NRG1_ENST00000287842.3_Intron|NRG1_ENST00000287845.5_Intron|NRG1_ENST00000338921.4_Intron|NRG1_ENST00000539990.1_Intron|NRG1_ENST00000356819.4_Intron|NRG1_ENST00000341377.5_Intron|NRG1_ENST00000405005.2_Intron|NRG1_ENST00000287840.5_Intron	p.L450H			Q02297	NRG1_HUMAN		KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943)	12	1457	+		Breast(100;0.203)	0					A5YAK4|A5YAK5|A8K1L2|B7Z4Z3|E9PHH4|O14667|P98202|Q02298|Q02299|Q07110|Q07111|Q12779|Q12780|Q12781|Q12782|Q12783|Q12784|Q15491|Q7RTV9|Q7RTW0|Q7RTW1|Q7RTW2|Q8NFN1|Q8NFN2|Q8NFN3|Q9UPE3	Missense_Mutation	SNP	ENST00000405005.3	37	c.1349T>A	CCDS6085.1	.	.	.	.	.	.	.	.	.	.	T	13.75	2.331035	0.41297	.	.	ENSG00000157168	ENST00000521670	T	0.73363	-0.74	5.72	3.41	0.39046	.	.	.	.	.	T	0.61862	0.2381	N	0.08118	0	0.80722	D	1	D;D;D	0.63046	0.977;0.986;0.992	P;P;P	0.52909	0.52;0.52;0.713	T	0.65253	-0.6213	9	0.87932	D	0	.	6.9512	0.24546	0.0:0.1526:0.0:0.8474	.	296;446;450	B7Z1D7;B0FYA9;Q02297-3	.;.;.	H	450	ENSP00000428828:L450H	ENSP00000428828:L450H	L	+	2	0	NRG1	32740358	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	1.395000	0.34520	2.182000	0.69389	0.528000	0.53228	CTT		0.403	NRG1-017	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000472504.1			4	143	0	0	0	1	0	4	143					A	32620816	T	A	32620816	1	1	232	0	1	0	0	0	0	0	0	0	10647	1609	56	5		5	NRG1	8	32620816	Intron	SNP	T	TCGA-HC-8259-01A-11D-2260-08		32620816	113743206	33	10799											
WHSC1L1	54904	broad.mit.edu	37	chr8	38146134	38146135	+	Frame_Shift_Ins	INS	-	-	T																															cagctgggcacacctgcgggINStggcattcatactgcaacat																										TCGA-HC-8259-01A-11D-2260-08	TCGA-HC-8259-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a3672a-baa0-4d94-aad4-c88dfc3d357f	a537ec83-4cbe-4ddc-9116-39468c6bd4bb	g.chr8:38146134_38146135insT	ENST00000317025.8	-	19	3888_3889	c.3371_3372insA	c.(3370-3372)cacfs	p.H1124fs	WHSC1L1_ENST00000527502.1_Frame_Shift_Ins_p.H1124fs|WHSC1L1_ENST00000433384.2_Frame_Shift_Ins_p.H1075fs	NM_023034.1	NP_075447.1	Q9BZ95	NSD3_HUMAN	Wolf-Hirschhorn syndrome candidate 1-like 1	1124	AWS. {ECO:0000255|PROSITE- ProRule:PRU00562}.				histone lysine methylation (GO:0034968)|histone methylation (GO:0016571)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	24	Colorectal(12;0.000442)|Esophageal squamous(3;0.0725)	all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.065)	Epithelial(3;3.12e-43)|all cancers(3;1.72e-38)|BRCA - Breast invasive adenocarcinoma(5;2.84e-27)|LUSC - Lung squamous cell carcinoma(2;2.79e-25)|Lung(2;5.03e-23)|COAD - Colon adenocarcinoma(9;0.0511)			ACACCTGCGGGTGGCATTCATA	0.525			T	NUP98	AML																																	ENST00000317025.8				Dom	yes		8	8p12	54904	T	Wolf-Hirschhorn syndrome candidate 1-like 1 (NSD3)			L	NUP98		AML		0				NS(1)|breast(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	24						c.(3370-3372)cccfs		Wolf-Hirschhorn syndrome candidate 1-like 1																																				SO:0001589	frameshift_variant	54904				cell differentiation|cell growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome	histone-lysine N-methyltransferase activity|zinc ion binding	g.chr8:38146134_38146135insT	AF332469	CCDS6105.1, CCDS43729.1	8p11.2	2013-05-20			ENSG00000147548	ENSG00000147548			12767	protein-coding gene	gene with protein product		607083				10802047, 23269674	Standard	NM_023034		Approved	FLJ20353, NSD3	uc003xli.3	Q9BZ95		ENST00000317025.8:c.3372dupA	8.37:g.38146135_38146135dupT	ENSP00000313983:p.His1124fs					WHSC1L1_ENST00000433384.2_Frame_Shift_Ins_p.P1075fs|WHSC1L1_ENST00000527502.1_Frame_Shift_Ins_p.P1124fs	p.P1124fs	NM_023034.1	NP_075447.1	Q9BZ95	NSD3_HUMAN	Epithelial(3;3.12e-43)|all cancers(3;1.72e-38)|BRCA - Breast invasive adenocarcinoma(5;2.84e-27)|LUSC - Lung squamous cell carcinoma(2;2.79e-25)|Lung(2;5.03e-23)|COAD - Colon adenocarcinoma(9;0.0511)		19	3888_3889	-	Colorectal(12;0.000442)|Esophageal squamous(3;0.0725)	all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.065)	1124			AWS.		B7ZL11|D3DSX1|Q1RMD3|Q3B796|Q6ZSA5|Q9BYU8|Q9BYU9|Q9H2M8|Q9H9W9|Q9NXA6	Frame_Shift_Ins	INS	ENST00000317025.8	37	c.3371_3372insA	CCDS43729.1																																																																																				0.525	WHSC1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381924.3	NM_023034		8	113						8	113	---	---	---	---	T	38146135	-	T	38146134	7	5	232	1	0	1	1	0	0	0	0	0	17360	1252	44	0	965	0	WHSC1L1	8	38146134	Frame_Shift_Ins	INS	-	TCGA-HC-8259-01A-11D-2260-08	5525318	38146134	108217888	34	10800											
PREX2	80243	broad.mit.edu	37	chr8	69046379	69046379	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttctctgagcagctcatggcGgccttgaaccagatgtttga	8	12	11	10	1	2	4	1	3	1	1	3	4	2	4	2	2	3	3	2	2	1	3	rs150877619		TCGA-HC-8259-01A-11D-2260-08	TCGA-HC-8259-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a3672a-baa0-4d94-aad4-c88dfc3d357f	a537ec83-4cbe-4ddc-9116-39468c6bd4bb	g.chr8:69046379G>A	ENST00000288368.4	+	32	4129	c.3852G>A	c.(3850-3852)gcG>gcA	p.A1284A		NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2	1284					adult locomotory behavior (GO:0008344)|dendrite morphogenesis (GO:0048813)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|positive regulation of Rac GTPase activity (GO:0032855)		Rac GTPase activator activity (GO:0030675)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)			NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						AGCTCATGGCGGCCTTGAACC	0.502																																						ENST00000288368.4																			0				NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						c.(3850-3852)gcG>gcA		phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2		G		1,4405	2.1+/-5.4	0,1,2202	87	82	84		3852	-10.8	0	8	dbSNP_134	84	0,8600		0,0,4300	no	coding-synonymous	PREX2	NM_024870.2		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		1284/1607	69046379	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	80243				G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity	g.chr8:69046379G>A	AK024079	CCDS6201.1	8q13.1	2014-06-13	2008-09-15	2008-09-15	ENSG00000046889	ENSG00000046889		"Rho guanine nucleotide exchange factors"	22950	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 129"	612139	"DEP domain containing 2"	DEPDC2		15304342, 15304343	Standard	NM_024870		Approved	DEP.2, FLJ12987, P-REX2, PPP1R129	uc003xxv.1	Q70Z35	OTTHUMG00000164402	ENST00000288368.4:c.3852G>A	8.37:g.69046379G>A							p.A1284A	NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN			32	4129	+			1284					B4DFX0|Q32KL0|Q32KL1|Q6R7Q3|Q6R7Q4|Q9H805|Q9H961	Silent	SNP	ENST00000288368.4	37	c.3852G>A	CCDS6201.1																																																																																				0.502	PREX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378620.1	NM_025170		4	55	0	0	0	1	0	4	55					A	69046379	G	A	69046379	2	1	232	1	0	0	0	0	0	0	0	1	12477	1103	39	2		2	PREX2	8	69046379	Silent	SNP	G	TCGA-HC-8259-01A-11D-2260-08	30900245	69046379	77317643	35	10801											
TEX10	54881	broad.mit.edu	37	chr9	103092361	103092361	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caatccttctgcaaagttgaCgcatttgccagggagaccat	11	10	9	11	1	1	2	0	1	1	1	2	3	2	2	3	1	2	3	3	1	2	3			TCGA-HC-8259-01A-11D-2260-08	TCGA-HC-8259-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a3672a-baa0-4d94-aad4-c88dfc3d357f	a537ec83-4cbe-4ddc-9116-39468c6bd4bb	g.chr9:103092361C>T	ENST00000374902.4	-	6	1517	c.1341G>A	c.(1339-1341)gcG>gcA	p.A447A	TEX10_ENST00000537512.1_Silent_p.A382A|TEX10_ENST00000535814.1_Silent_p.A450A	NM_017746.3	NP_060216.2	Q9NXF1	TEX10_HUMAN	testis expressed 10	447						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|MLL1 complex (GO:0071339)				NS(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	38		Acute lymphoblastic leukemia(62;0.0527)		OV - Ovarian serous cystadenocarcinoma(323;0.157)		GCAAAGTTGACGCATTTGCCA	0.388																																						ENST00000374902.4																			0				NS(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	38						c.(1339-1341)gcG>gcA		testis expressed 10							140	132	135					9																	103092361		2203	4300	6503	SO:0001819	synonymous_variant	54881					integral to membrane|MLL1 complex|nuclear membrane|nucleolus	binding	g.chr9:103092361C>T	AB060968	CCDS6748.1, CCDS55330.1	9q31.1	2012-05-02	2007-03-13		ENSG00000136891	ENSG00000136891			25988	protein-coding gene	gene with protein product			"testis expressed gene 10", "testis expressed sequence 10"			12477932	Standard	NM_017746		Approved	FLJ20287, bA208F1.2, Ipi1	uc004bas.3	Q9NXF1	OTTHUMG00000020366	ENST00000374902.4:c.1341G>A	9.37:g.103092361C>T						TEX10_ENST00000537512.1_Silent_p.A382A|TEX10_ENST00000535814.1_Silent_p.A450A	p.A447A	NM_017746.3	NP_060216.2	Q9NXF1	TEX10_HUMAN		OV - Ovarian serous cystadenocarcinoma(323;0.157)	6	1517	-		Acute lymphoblastic leukemia(62;0.0527)	447					B4DYV2|Q5T722|Q5T723|Q8NCN8|Q8TDY0	Silent	SNP	ENST00000374902.4	37	c.1341G>A	CCDS6748.1																																																																																				0.388	TEX10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053416.1	NM_017746		5	93	0	0	0	1	0	5	93					T	103092361	C	T	103092361	2	4	232	1	0	0	0	0	0	0	0	1	15769	523	19	1		1	TEX10	9	103092361	Silent	SNP	C	TCGA-HC-8259-01A-11D-2260-08		103092361	38121070	36	10802											
CACNB2	783	broad.mit.edu	37	chr10	18823041	18823041	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aatcgaaaggatttttgaacTtgcaagaacattgcagttgg	14	12	10	5	1	0	2	0	1	0	1	1	4	0	3	0	2	4	3	0	2	5	5			TCGA-HC-8259-01A-11D-2260-08	TCGA-HC-8259-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a3672a-baa0-4d94-aad4-c88dfc3d357f	a537ec83-4cbe-4ddc-9116-39468c6bd4bb	g.chr10:18823041T>A	ENST00000324631.7	+	11	1151	c.1091T>A	c.(1090-1092)cTt>cAt	p.L364H	CACNB2_ENST00000377319.3_Missense_Mutation_p.L271H|RP11-499P20.2_ENST00000425669.1_RNA|CACNB2_ENST00000377331.2_Missense_Mutation_p.L312H|CACNB2_ENST00000377328.1_Intron|CACNB2_ENST00000377315.4_Missense_Mutation_p.L316H|CACNB2_ENST00000396576.2_Missense_Mutation_p.L309H|CACNB2_ENST00000282343.8_Missense_Mutation_p.L336H|CACNB2_ENST00000352115.6_Missense_Mutation_p.L340H|CACNB2_ENST00000377329.4_Missense_Mutation_p.L310H|RP11-383B4.4_ENST00000433526.1_RNA	NM_201593.2|NM_201596.2	NP_963887.2|NP_963890.2	Q08289	CACB2_HUMAN	calcium channel, voltage-dependent, beta 2 subunit	364				L -> V (in Ref. 5; AAD33729/AAD33730). {ECO:0000305}.	axon guidance (GO:0007411)|calcium ion import (GO:0070509)|neuromuscular junction development (GO:0007528)|positive regulation of calcium ion transport (GO:0051928)|synaptic transmission (GO:0007268)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|voltage-gated calcium channel complex (GO:0005891)	calcium channel activity (GO:0005262)|voltage-gated calcium channel activity (GO:0005245)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|stomach(2)	31					Amlodipine(DB00381)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	ATTTTTGAACTTGCAAGAACA	0.373																																						ENST00000396576.2																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|stomach(2)	31						c.(925-927)cTt>cAt		calcium channel, voltage-dependent, beta 2 subunit	Magnesium Sulfate(DB00653)|Verapamil(DB00661)						92	93	93					10																	18823041		2203	4300	6503	SO:0001583	missense	783				axon guidance|neuromuscular junction development	integral to plasma membrane|sarcolemma|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity	g.chr10:18823041T>A	U95019	CCDS7125.1, CCDS7126.1, CCDS7127.1, CCDS7128.1, CCDS7129.1, CCDS41493.1, CCDS41494.1	10p12	2014-09-17			ENSG00000165995	ENSG00000165995		"Calcium channel subunits"	1402	protein-coding gene	gene with protein product		600003		MYSB, CACNLB2		9254841, 8494331	Standard	NM_201596		Approved		uc001ipr.2	Q08289	OTTHUMG00000017764	ENST00000324631.7:c.1091T>A	10.37:g.18823041T>A	ENSP00000320025:p.Leu364His					CACNB2_ENST00000352115.6_Missense_Mutation_p.L340H|CACNB2_ENST00000377329.4_Missense_Mutation_p.L310H|CACNB2_ENST00000282343.8_Missense_Mutation_p.L336H|CACNB2_ENST00000377315.4_Missense_Mutation_p.L316H|RP11-499P20.2_ENST00000425669.1_RNA|CACNB2_ENST00000377319.3_Missense_Mutation_p.L271H|CACNB2_ENST00000377328.1_Intron|CACNB2_ENST00000324631.7_Missense_Mutation_p.L364H|CACNB2_ENST00000377331.2_Missense_Mutation_p.L312H	p.L309H	NM_000724.3	NP_000715.2	Q08289	CACB2_HUMAN			10	1427	+			364					A6PVM5|A6PVM7|A6PVM8|O00304|Q5QJ99|Q5QJA0|Q5VVG9|Q5VVH0|Q5VWV6|Q6TME1|Q6TME2|Q6TME3|Q8WX81|Q96NZ3|Q96NZ4|Q96NZ5|Q9BWU2|Q9HD32|Q9Y340|Q9Y341	Missense_Mutation	SNP	ENST00000324631.7	37	c.926T>A	CCDS7125.1	.	.	.	.	.	.	.	.	.	.	T	24.1	4.488186	0.84854	.	.	ENSG00000165995	ENST00000324631;ENST00000352115;ENST00000282343;ENST00000377331;ENST00000396576;ENST00000377319;ENST00000377329;ENST00000377315	T;T;T;T;T;T;T;T	0.45276	0.9;0.9;0.9;0.9;0.9;0.9;0.9;0.9	5.54	4.39	0.52855	Guanylate kinase/L-type calcium channel (1);Guanylate kinase (1);	0.065270	0.64402	D	0.000007	T	0.70219	0.3199	M	0.91406	3.205	0.80722	D	1	D;D;D;D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D;D;D;D	0.97110	0.999;0.999;0.999;0.999;0.999;1.0;0.998;0.999;0.997;0.998;0.999;0.999	T	0.76465	-0.2949	10	0.87932	D	0	-15.5287	12.7849	0.57498	0.0:0.0:0.1369:0.8631	.	278;336;316;286;310;320;271;312;336;326;340;364	B7Z1U5;Q5QJA0;Q5VVH1;Q6TME1;Q08289-3;Q59H42;Q08289-6;A6PVM7;Q08289-4;Q08289-7;Q08289-8;Q08289	.;.;.;.;.;.;.;.;.;.;.;CACB2_HUMAN	H	364;340;336;312;309;271;310;316	ENSP00000320025:L364H;ENSP00000344474:L340H;ENSP00000282343:L336H;ENSP00000366548:L312H;ENSP00000379821:L309H;ENSP00000366536:L271H;ENSP00000366546:L310H;ENSP00000366532:L316H	ENSP00000282343:L336H	L	+	2	0	CACNB2	18863047	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	8.036000	0.88901	0.904000	0.36572	0.455000	0.32223	CTT		0.373	CACNB2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047072.2	NM_000724		7	72	0	0	0	1	0	7	72					A	18823041	T	A	18823041	3	1	232	1	0	0	0	0	1	0	0	0	2553	1609	56	5	1443	5	CACNB2	10	18823041	Missense_Mutation	SNP	T	TCGA-HC-8259-01A-11D-2260-08		18823041	116711706	37	10803											
CCNJ	54619	broad.mit.edu	37	chr10	97810164	97810164	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	actggacctgtttatggaccGctatgacatctctatccagc	9	12	8	12	1	1	1	0	1	1	0	3	3	2	3	3	2	1	2	3	2	3	4	rs201712540		TCGA-HC-8259-01A-11D-2260-08	TCGA-HC-8259-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a3672a-baa0-4d94-aad4-c88dfc3d357f	a537ec83-4cbe-4ddc-9116-39468c6bd4bb	g.chr10:97810164G>A	ENST00000265992.5	+	3	588	c.221G>A	c.(220-222)cGc>cAc	p.R74H	ENTPD1-AS1_ENST00000416301.1_RNA|ENTPD1-AS1_ENST00000452728.1_RNA|ENTPD1-AS1_ENST00000458228.1_RNA|ENTPD1-AS1_ENST00000451364.1_RNA|ENTPD1-AS1_ENST00000427846.1_RNA|CCNJ_ENST00000403870.3_Missense_Mutation_p.R74H|ENTPD1-AS1_ENST00000454638.1_RNA|CCNJ_ENST00000465148.2_Missense_Mutation_p.R74H|CCNJ_ENST00000534974.1_Missense_Mutation_p.R74H	NM_001134375.1|NM_001134376.1|NM_019084.4	NP_001127847.1|NP_001127848.1|NP_061957.2	Q5T5M9	CCNJ_HUMAN	cyclin J	74	Cyclin N-terminal.					nucleus (GO:0005634)				breast(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	11				Epithelial(162;6.1e-08)|all cancers(201;2.32e-06)		TTTATGGACCGCTATGACATC	0.453													G|||	1	0.000199681	0	0	5008	,	,		17575	0		0.001	False		,,,				2504	0					ENST00000265992.5																			0				breast(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	11						c.(220-222)cGc>cAc		cyclin J							174	154	161					10																	97810164		2203	4300	6503	SO:0001583	missense	54619					nucleus		g.chr10:97810164G>A	AK001757	CCDS7445.1, CCDS44462.1, CCDS44463.1	10q23.33	2008-05-14			ENSG00000107443	ENSG00000107443			23434	protein-coding gene	gene with protein product						12477932	Standard	NM_019084		Approved	FLJ10895, bA690P14.1	uc010qoq.2	Q5T5M9	OTTHUMG00000018823	ENST00000265992.5:c.221G>A	10.37:g.97810164G>A	ENSP00000265992:p.Arg74His					CCNJ_ENST00000534974.1_Missense_Mutation_p.R74H|CCNJ_ENST00000465148.2_Missense_Mutation_p.R74H|ENTPD1-AS1_ENST00000454638.1_RNA|CCNJ_ENST00000403870.3_Missense_Mutation_p.R74H|ENTPD1-AS1_ENST00000451364.1_RNA|ENTPD1-AS1_ENST00000458228.1_RNA|ENTPD1-AS1_ENST00000416301.1_RNA|ENTPD1-AS1_ENST00000452728.1_RNA|ENTPD1-AS1_ENST00000427846.1_RNA	p.R74H	NM_001134375.1|NM_001134376.1|NM_019084.4	NP_001127847.1|NP_001127848.1|NP_061957.2	Q5T5M9	CCNJ_HUMAN		Epithelial(162;6.1e-08)|all cancers(201;2.32e-06)	3	588	+			74			Cyclin N-terminal.		B7Z4E7|Q86XL1|Q9NV69	Missense_Mutation	SNP	ENST00000265992.5	37	c.221G>A	CCDS7445.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	28.8	4.951748	0.92660	.	.	ENSG00000107443	ENST00000265992;ENST00000419934;ENST00000403870;ENST00000534974	T;T;T	0.12465	2.68;2.68;2.68	5.26	5.26	0.73747	Cyclin, N-terminal (1);Cyclin-like (3);	0.000000	0.85682	D	0.000000	T	0.27384	0.0672	L	0.39085	1.19	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.997;0.998	T	0.01776	-1.1276	10	0.17369	T	0.5	-14.3036	18.0671	0.89394	0.0:0.0:1.0:0.0	.	74;74;74	Q5T5M9-3;Q5T5M9-2;Q5T5M9	.;.;CCNJ_HUMAN	H	74	ENSP00000265992:R74H;ENSP00000384498:R74H;ENSP00000441415:R74H	ENSP00000265992:R74H	R	+	2	0	CCNJ	97800154	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.599000	0.74127	2.634000	0.89283	0.644000	0.83932	CGC		0.453	CCNJ-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090166.3	NM_019084		8	179	0	0	0	1	0	8	179					A	97810164	G	A	97810164	3	1	232	1	0	0	0	0	1	0	0	0	2928	1087	38	1	227	1	CCNJ	10	97810164	Missense_Mutation	SNP	G	TCGA-HC-8259-01A-11D-2260-08	78987123	97810164	37724583	38	10804											
CRTAC1	55118	broad.mit.edu	37	chr10	99667831	99667831	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ttgtggaaaaggaagttaggCccattctcattgtcgcagaa	12	11	11	7	1	1	1	1	0	1	1	3	3	1	3	1	3	0	2	1	3	5	4	rs112478506		TCGA-HC-8259-01A-11D-2260-08	TCGA-HC-8259-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a3672a-baa0-4d94-aad4-c88dfc3d357f	a537ec83-4cbe-4ddc-9116-39468c6bd4bb	g.chr10:99667831C>A	ENST00000370597.3	-	6	1144	c.789G>T	c.(787-789)ggG>ggT	p.G263G	CRTAC1_ENST00000298819.4_Silent_p.G263G|CRTAC1_ENST00000370591.2_Silent_p.G263G	NM_018058.6	NP_060528.3	Q9NQ79	CRAC1_HUMAN	cartilage acidic protein 1	263						extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(6)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	35		Colorectal(252;0.24)		Epithelial(162;2.18e-10)|all cancers(201;3.27e-09)		GGAAGTTAGGCCCATTCTCAT	0.612																																						ENST00000370597.3																			0				autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(6)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	35						c.(787-789)ggG>ggT		cartilage acidic protein 1							92	70	78					10																	99667831		2203	4300	6503	SO:0001819	synonymous_variant	55118					proteinaceous extracellular matrix	calcium ion binding	g.chr10:99667831C>A	AJ276171	CCDS31266.1, CCDS55723.1	10q22	2007-12-03			ENSG00000095713	ENSG00000095713			14882	protein-coding gene	gene with protein product		606276				11139377	Standard	NM_018058		Approved	FLJ10320, CEP-68, ASPIC1	uc001kou.2	Q9NQ79	OTTHUMG00000018871	ENST00000370597.3:c.789G>T	10.37:g.99667831C>A						CRTAC1_ENST00000298819.4_Silent_p.G263G|CRTAC1_ENST00000370591.2_Silent_p.G263G	p.G263G	NM_018058.6	NP_060528.3	Q9NQ79	CRAC1_HUMAN		Epithelial(162;2.18e-10)|all cancers(201;3.27e-09)	6	1144	-		Colorectal(252;0.24)	263					B1ALN4|Q5T4F8|Q8N4H6|Q8TE52|Q9NQ78|Q9NQ80|Q9NW46	Silent	SNP	ENST00000370597.3	37	c.789G>T	CCDS31266.1																																																																																				0.612	CRTAC1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000049754.1	NM_018058		3	50	1	0	0.115264	1	0.117945	3	50					A	99667831	C	A	99667831	2	1	232	1	0	0	0	0	0	0	0	1	3896	726	26	5		5	CRTAC1	10	99667831	Silent	SNP	C	TCGA-HC-8259-01A-11D-2260-08	1857667	99667831	35866916	39	10805											
C10orf90	118611	broad.mit.edu	37	chr10	128192655	128192655	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agctcccacatttgccaattCtgtgttttccaatggaaaag	11	13	7	10	0	1	0	0	0	1	0	3	1	3	1	3	1	2	2	3	1	4	4			TCGA-HC-8259-01A-11D-2260-08	TCGA-HC-8259-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a3672a-baa0-4d94-aad4-c88dfc3d357f	a537ec83-4cbe-4ddc-9116-39468c6bd4bb	g.chr10:128192655C>T	ENST00000284694.7	-	3	1234	c.1114G>A	c.(1114-1116)Gaa>Aaa	p.E372K	C10orf90_ENST00000368674.1_5'UTR|C10orf90_ENST00000356858.3_Missense_Mutation_p.E325K|C10orf90_ENST00000454341.1_Missense_Mutation_p.E372K|C10orf90_ENST00000544758.1_Missense_Mutation_p.E469K|C10orf90_ENST00000392694.1_Missense_Mutation_p.E325K	NM_001004298.2	NP_001004298.2	Q96M02	CJ090_HUMAN	chromosome 10 open reading frame 90	372					mitotic G2 DNA damage checkpoint (GO:0007095)|negative regulation of cell growth (GO:0030308)|protein stabilization (GO:0050821)|response to ionizing radiation (GO:0010212)|response to UV (GO:0009411)	actin cytoskeleton (GO:0015629)|centrosome (GO:0005813)|cytoplasm (GO:0005737)				NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(19)|liver(1)|lung(29)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	65		all_epithelial(44;4.51e-05)|all_lung(145;0.0068)|Lung NSC(174;0.0105)|Colorectal(57;0.0848)|all_neural(114;0.0936)|Breast(234;0.203)		COAD - Colon adenocarcinoma(40;0.0442)|Colorectal(40;0.0479)		TTTGCCAATTCTGTGTTTTCC	0.478											OREG0020616	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000284694.7																			0				NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(19)|liver(1)|lung(29)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	65						c.(1114-1116)Gaa>Aaa		chromosome 10 open reading frame 90							148	127	134					10																	128192655		2203	4300	6503	SO:0001583	missense	118611							g.chr10:128192655C>T	BC034828	CCDS31310.1	10q26.2	2012-05-31			ENSG00000154493	ENSG00000154493			26563	protein-coding gene	gene with protein product	"fragile-site associated tumor suppressor"					20843368, 20154723	Standard	NM_001004298		Approved	FLJ32938, bA422P15.2, FATS	uc001ljq.3	Q96M02	OTTHUMG00000019245	ENST00000284694.7:c.1114G>A	10.37:g.128192655C>T	ENSP00000284694:p.Glu372Lys		OREG0020616	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1563	C10orf90_ENST00000368674.1_5'UTR|C10orf90_ENST00000392694.1_Missense_Mutation_p.E325K|C10orf90_ENST00000544758.1_Missense_Mutation_p.E469K|C10orf90_ENST00000454341.1_Missense_Mutation_p.E372K|C10orf90_ENST00000356858.3_Missense_Mutation_p.E325K	p.E372K	NM_001004298.2	NP_001004298.2	Q96M02	CJ090_HUMAN		COAD - Colon adenocarcinoma(40;0.0442)|Colorectal(40;0.0479)	3	1234	-		all_epithelial(44;4.51e-05)|all_lung(145;0.0068)|Lung NSC(174;0.0105)|Colorectal(57;0.0848)|all_neural(114;0.0936)|Breast(234;0.203)	372					B9EIQ9|Q5JRP6|Q5T023|Q8NCV5|Q8WU75	Missense_Mutation	SNP	ENST00000284694.7	37	c.1114G>A	CCDS31310.1	.	.	.	.	.	.	.	.	.	.	C	11.73	1.726965	0.30593	.	.	ENSG00000154493	ENST00000356858;ENST00000284694;ENST00000454341;ENST00000544758;ENST00000432642;ENST00000368674;ENST00000392694	T;T;T;T;T	0.23552	2.21;2.22;2.22;2.21;1.9	5.16	3.29	0.37713	.	0.494269	0.18699	N	0.133640	T	0.17492	0.0420	L	0.31664	0.95	0.09310	N	1	B;B;B;B;B	0.32653	0.176;0.379;0.379;0.176;0.176	B;B;B;B;B	0.32928	0.054;0.155;0.091;0.054;0.054	T	0.13575	-1.0504	10	0.33940	T	0.23	-3.6331	8.6588	0.34079	0.0:0.8228:0.0:0.1772	.	469;469;325;372;372	F5GZL2;B4DMQ6;Q5T024;Q96M02;Q96M02-2	.;.;.;CJ090_HUMAN;.	K	325;372;372;469;372;325;325	ENSP00000284694:E372K;ENSP00000398786:E372K;ENSP00000444369:E469K;ENSP00000405995:E372K;ENSP00000376459:E325K	ENSP00000284694:E372K	E	-	1	0	C10orf90	128182645	0.002000	0.14202	0.000000	0.03702	0.004000	0.04260	1.347000	0.33975	0.736000	0.32559	0.650000	0.86243	GAA		0.478	C10orf90-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001004298		23	44	0	0	0	1	0	23	44					T	128192655	C	T	128192655	3	4	232	1	0	0	0	0	1	0	0	0	1623	922	32	3	1013	3	C10orf90	10	128192655	Missense_Mutation	SNP	C	TCGA-HC-8259-01A-11D-2260-08	28524824	128192655	7342092	40	10806											
DUSP8	1850	broad.mit.edu	37	chr11	1586987	1586987	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gatgaccagcggccccccagGcccgccccgcagcaggctgg	6	2	14	19	3	0	1	0	1	0	0	0	2	0	1	7	4	2	3	7	4	0	0			TCGA-HC-8259-01A-11D-2260-08	TCGA-HC-8259-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a3672a-baa0-4d94-aad4-c88dfc3d357f	a537ec83-4cbe-4ddc-9116-39468c6bd4bb	g.chr11:1586987G>A	ENST00000397374.3	-	2	197	c.70C>T	c.(70-72)Cct>Tct	p.P24S	DUSP8_ENST00000331588.4_Missense_Mutation_p.P24S	NM_004420.2	NP_004411.2	Q13202	DUS8_HUMAN	dual specificity phosphatase 8	24	Rhodanese. {ECO:0000255|PROSITE- ProRule:PRU00173}.				inactivation of MAPK activity (GO:0000188)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	MAP kinase tyrosine/serine/threonine phosphatase activity (GO:0017017)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			endometrium(1)|lung(2)|prostate(1)|urinary_tract(1)	5		all_epithelial(84;0.000134)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000621)|Lung(200;0.0687)|LUSC - Lung squamous cell carcinoma(625;0.0825)		GGCCCCCCAGGCCCGCCCCGC	0.662																																						ENST00000397374.3																			0				endometrium(1)|lung(2)|prostate(1)|urinary_tract(1)	5						c.(70-72)Cct>Tct		dual specificity phosphatase 8							46	58	54					11																	1586987		2183	4268	6451	SO:0001583	missense	1850				inactivation of MAPK activity	cytoplasm|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity	g.chr11:1586987G>A		CCDS7724.1	11p15.5	2011-06-09			ENSG00000184545	ENSG00000184545		"Protein tyrosine phosphatases / Class I Cys-based PTPs : MAP kinase phosphatases"	3074	protein-coding gene	gene with protein product	"serine/threonine specific protein phosphatase", "H1 phosphatase, vaccinia virus homolog"	602038	"chromosome 11 open reading frame 81"	C11orf81		7561881, 9192849	Standard	NM_004420		Approved	HVH-5, HB5, FLJ42958	uc001lts.2	Q13202	OTTHUMG00000133348	ENST00000397374.3:c.70C>T	11.37:g.1586987G>A	ENSP00000380530:p.Pro24Ser					DUSP8_ENST00000331588.4_Missense_Mutation_p.P24S	p.P24S	NM_004420.2	NP_004411.2	Q13202	DUS8_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.000621)|Lung(200;0.0687)|LUSC - Lung squamous cell carcinoma(625;0.0825)	2	197	-		all_epithelial(84;0.000134)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	24			Rhodanese.		Q86SS8	Missense_Mutation	SNP	ENST00000397374.3	37	c.70C>T	CCDS7724.1	.	.	.	.	.	.	.	.	.	.	G	4.356	0.065504	0.08388	.	.	ENSG00000184545	ENST00000397374;ENST00000331588	T;T	0.23348	1.91;1.91	3.76	2.75	0.32379	Rhodanese-like (5);	0.279303	0.24240	U	0.040269	T	0.11879	0.0289	N	0.16368	0.405	0.35928	D	0.83231	B	0.26708	0.157	B	0.29663	0.105	T	0.13602	-1.0503	10	0.07030	T	0.85	.	6.733	0.23393	0.0:0.3134:0.5337:0.1528	.	24	Q13202	DUS8_HUMAN	S	24	ENSP00000380530:P24S;ENSP00000329539:P24S	ENSP00000329539:P24S	P	-	1	0	DUSP8	1543563	0.037000	0.19845	0.995000	0.50966	0.458000	0.32498	0.175000	0.16762	2.113000	0.64589	0.561000	0.74099	CCT		0.662	DUSP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257178.3	NM_004420		31	203	0	0	0	1	0	31	203					A	1586987	G	A	1586987	3	1	232	1	0	0	0	0	1	0	0	0	4831	1203	42	3	1831	3	DUSP8	11	1586987	Missense_Mutation	SNP	G	TCGA-HC-8259-01A-11D-2260-08		1586987	133419529	41	10807											
OR52N5	390075	broad.mit.edu	37	chr11	5799663	5799664	+	Frame_Shift_Ins	INS	-	-	AC																															gcatggccaaaaaaaaaataINScatcggatgatgtaaggact																										TCGA-HC-8259-01A-11D-2260-08	TCGA-HC-8259-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a3672a-baa0-4d94-aad4-c88dfc3d357f	a537ec83-4cbe-4ddc-9116-39468c6bd4bb	g.chr11:5799663_5799664insAC	ENST00000317093.2	-	1	233_234	c.201_202insGT	c.(199-204)atgtatfs	p.Y68fs	TRIM5_ENST00000380027.1_Intron	NM_001001922.2	NP_001001922.2	Q8NH56	O52N5_HUMAN	olfactory receptor, family 52, subfamily N, member 5	68						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|large_intestine(3)|liver(1)|lung(17)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.05e-11)|LUSC - Lung squamous cell carcinoma(625;0.112)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.195)		AAAAAAAAATACATCGGATGAT	0.45																																						ENST00000317093.2																			0				endometrium(2)|large_intestine(3)|liver(1)|lung(17)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	33						c.(199-204)atatttfs		olfactory receptor, family 52, subfamily N, member 5																																				SO:0001589	frameshift_variant	390075				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5799663_5799664insAC	AB065535	CCDS31397.1	11p15.4	2012-08-09			ENSG00000181009	ENSG00000181009		"GPCR / Class A : Olfactory receptors"	15231	protein-coding gene	gene with protein product							Standard	NM_001001922		Approved	OR52N5Q	uc010qzn.2	Q8NH56	OTTHUMG00000168799	ENST00000317093.2:c.201_202insGT	11.37:g.5799663_5799664insAC	ENSP00000322866:p.Tyr68fs					TRIM5_ENST00000380027.1_Intron	p.IF67fs	NM_001001922.2	NP_001001922.2	Q8NH56	O52N5_HUMAN		Epithelial(150;3.05e-11)|LUSC - Lung squamous cell carcinoma(625;0.112)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.195)	1	233_234	-		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)	67					B9EH12|Q6IFG2	Frame_Shift_Ins	INS	ENST00000317093.2	37	c.201_202insGT	CCDS31397.1																																																																																				0.45	OR52N5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401141.1	NM_001001922		8	120						8	120	---	---	---	---	AC	5799664	-	AC	5799663	7	5	232	1	0	1	1	0	0	0	0	0	11130	391	14	0	776	0	OR52N5	11	5799663	Frame_Shift_Ins	INS	-	TCGA-HC-8259-01A-11D-2260-08	4212676	5799663	129206853	42	10808											
SCUBE2	57758	broad.mit.edu	37	chr11	9072168	9072168	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	catacctggtagtgctggtcGcagaccctcgggaaacagct	9	8	12	12	2	0	1	0	0	0	1	2	2	0	2	2	3	4	4	2	3	3	2	rs139599907		TCGA-HC-8259-01A-11D-2260-08	TCGA-HC-8259-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a3672a-baa0-4d94-aad4-c88dfc3d357f	a537ec83-4cbe-4ddc-9116-39468c6bd4bb	g.chr11:9072168G>A	ENST00000309263.3	-	13	1609	c.1537C>T	c.(1537-1539)Cga>Tga	p.R513*	SCUBE2_ENST00000457346.2_Nonsense_Mutation_p.R542*|SCUBE2_ENST00000450649.2_Intron|RP11-467K18.2_ENST00000531592.1_RNA|SCUBE2_ENST00000520467.1_Nonsense_Mutation_p.R542*			Q9NQ36	SCUB2_HUMAN	signal peptide, CUB domain, EGF-like 2	513						extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			breast(1)|endometrium(5)|kidney(3)|large_intestine(15)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	42				all cancers(16;8.57e-09)|Epithelial(150;4.42e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0116)		AGTGCTGGTCGCAGACCCTCG	0.532																																						ENST00000457346.2																			0				breast(1)|endometrium(5)|kidney(3)|large_intestine(15)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	42						c.(1624-1626)Cga>Tga		signal peptide, CUB domain, EGF-like 2		G	,stop/ARG	2,4400	4.2+/-10.8	0,2,2199	131	117	122		,1624	5.4	1	11	dbSNP_134	122	3,8589	3.0+/-9.4	0,3,4293	yes	intron,stop-gained	SCUBE2	NM_001170690.1,NM_020974.2	,	0,5,6492	AA,AG,GG		0.0349,0.0454,0.0385	,	,542/972	9072168	5,12989	2201	4296	6497	SO:0001587	stop_gained	57758					extracellular region	calcium ion binding	g.chr11:9072168G>A	AK131552	CCDS7797.1, CCDS7797.2, CCDS53599.1	11p15.4	2014-09-04			ENSG00000175356	ENSG00000175356			30425	protein-coding gene	gene with protein product		611747				12270931, 11528127	Standard	NM_020974		Approved	Cegf1, Cegb1, FLJ16792	uc001mhi.2	Q9NQ36	OTTHUMG00000163880	ENST00000309263.3:c.1537C>T	11.37:g.9072168G>A	ENSP00000310658:p.Arg513*					SCUBE2_ENST00000450649.2_Intron|RP11-467K18.2_ENST00000531592.1_RNA|SCUBE2_ENST00000309263.3_Nonsense_Mutation_p.R513*|SCUBE2_ENST00000520467.1_Nonsense_Mutation_p.R542*	p.R542*			Q9NQ36	SCUB2_HUMAN		all cancers(16;8.57e-09)|Epithelial(150;4.42e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0116)	14	1698	-			513					Q2NKQ8|Q6ZWI1	Nonsense_Mutation	SNP	ENST00000309263.3	37	c.1624C>T		.	.	.	.	.	.	.	.	.	.	G	39	7.901201	0.98551	4.54E-4	3.49E-4	ENSG00000175356	ENST00000457346;ENST00000309263;ENST00000520467	.	.	.	5.36	5.36	0.76844	.	0.467635	0.23275	N	0.049974	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.0725	0.64868	0.0:0.1621:0.8379:0.0	.	.	.	.	X	542;513;542	.	ENSP00000310658:R513X	R	-	1	2	SCUBE2	9028744	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.618000	0.46393	2.516000	0.84829	0.650000	0.86243	CGA		0.532	SCUBE2-005	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000385812.2	NM_020974		4	95	0	0	0	1	0	4	95					A	9072168	G	A	9072168	4	1	232	1	0	0	0	0	0	1	0	0	13945	1095	38	1	1502	1	SCUBE2	11	9072168	Nonsense_Mutation	SNP	G	TCGA-HC-8259-01A-11D-2260-08	3272505	9072168	125934348	43	10809											
CAT	847	broad.mit.edu	37	chr11	34475464	34475464	+	Frame_Shift_Del	DEL	C	C	-																															gaggcagtttattgcaaattCcattataaggtatgtgttac																										TCGA-HC-8259-01A-11D-2260-08	TCGA-HC-8259-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a3672a-baa0-4d94-aad4-c88dfc3d357f	a537ec83-4cbe-4ddc-9116-39468c6bd4bb	g.chr11:34475464delC	ENST00000241052.4	+	6	791	c.702delC	c.(700-702)ttcfs	p.F234fs		NM_001752.3	NP_001743.1	P04040	CATA_HUMAN	catalase	234					aerobic respiration (GO:0009060)|cellular response to growth factor stimulus (GO:0071363)|cholesterol metabolic process (GO:0008203)|hemoglobin metabolic process (GO:0020027)|hydrogen peroxide catabolic process (GO:0042744)|menopause (GO:0042697)|negative regulation of apoptotic process (GO:0043066)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|nucleobase-containing small molecule metabolic process (GO:0055086)|osteoblast differentiation (GO:0001649)|positive regulation of cell division (GO:0051781)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|protein homotetramerization (GO:0051289)|protein tetramerization (GO:0051262)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide catabolic process (GO:0006195)|response to hyperoxia (GO:0055093)|response to hypoxia (GO:0001666)|response to reactive oxygen species (GO:0000302)|response to vitamin E (GO:0033197)|small molecule metabolic process (GO:0044281)|triglyceride metabolic process (GO:0006641)|ureteric bud development (GO:0001657)|UV protection (GO:0009650)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|lysosome (GO:0005764)|membrane (GO:0016020)|mitochondrial intermembrane space (GO:0005758)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)|plasma membrane (GO:0005886)	aminoacylase activity (GO:0004046)|antioxidant activity (GO:0016209)|catalase activity (GO:0004096)|enzyme binding (GO:0019899)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|NADP binding (GO:0050661)|oxidoreductase activity, acting on peroxide as acceptor (GO:0016684)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)			breast(1)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|stomach(1)|urinary_tract(3)	26		Lung NSC(402;2.76e-08)|Acute lymphoblastic leukemia(5;0.00143)|all_hematologic(20;0.0116)|Melanoma(852;0.027)		BRCA - Breast invasive adenocarcinoma(625;0.000995)	Fomepizole(DB01213)	ATTGCAAATTCCATTATAAGG	0.443																																						ENST00000241052.4																			0				breast(1)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|stomach(1)|urinary_tract(3)	26						c.(700-702)ttfs		catalase	Fomepizole(DB01213)						123	113	117					11																	34475464		2202	4298	6500	SO:0001589	frameshift_variant	847				hydrogen peroxide catabolic process|negative regulation of apoptosis|positive regulation of cell division|protein tetramerization|purine base metabolic process|purine nucleotide catabolic process|UV protection	peroxisomal matrix|peroxisomal membrane	catalase activity|heme binding|NADP binding|protein homodimerization activity	g.chr11:34475464delC	AY028632	CCDS7891.1	11p13	2012-10-02			ENSG00000121691	ENSG00000121691	1.11.1.6		1516	protein-coding gene	gene with protein product		115500					Standard	NM_001752		Approved		uc001mvm.3	P04040	OTTHUMG00000044353	ENST00000241052.4:c.702delC	11.37:g.34475464delC	ENSP00000241052:p.Phe234fs						p.F234fs	NM_001752.3	NP_001743.1	P04040	CATA_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.000995)	6	791	+		Lung NSC(402;2.76e-08)|Acute lymphoblastic leukemia(5;0.00143)|all_hematologic(20;0.0116)|Melanoma(852;0.027)	234					A8K6C0|B2RCZ9|D3DR07|Q2M1U4|Q4VXX5|Q9BWT9|Q9UC85	Frame_Shift_Del	DEL	ENST00000241052.4	37	c.702delC	CCDS7891.1																																																																																				0.443	CAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103197.2	NM_001752		8	74						8	74	---	---	---	---	-	34475464	C	-	34475464	7	5	232	1	0	1	0	1	0	0	0	0	2686	854	30	0	724	0	CAT	11	34475464	Frame_Shift_Del	DEL	C	TCGA-HC-8259-01A-11D-2260-08	25403296	34475464	100531052	44	10810											
TTC17	55761	broad.mit.edu	37	chr11	43436141	43436141	+	Splice_Site	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gatttttttttcttttcagcCtctgacctttttgagcctgg	4	21	7	9	0	3	2	1	2	2	0	3	3	3	2	3	1	2	0	3	1	0	8			TCGA-HC-8259-01A-11D-2260-08	TCGA-HC-8259-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a3672a-baa0-4d94-aad4-c88dfc3d357f	a537ec83-4cbe-4ddc-9116-39468c6bd4bb	g.chr11:43436141C>G	ENST00000039989.4	+	16	2080	c.2066C>G	c.(2065-2067)cCt>cGt	p.P689R	TTC17_ENST00000299240.6_Splice_Site_p.P689R|TTC17_ENST00000526774.1_3'UTR	NM_018259.5	NP_060729.2	Q96AE7	TTC17_HUMAN	tetratricopeptide repeat domain 17	689					actin filament polymerization (GO:0030041)|cilium organization (GO:0044782)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)				breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(27)|ovary(5)|prostate(3)|skin(3)	53						TCTTTTCAGCCTCTGACCTTT	0.383																																						ENST00000039989.4																			0				breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(27)|ovary(5)|prostate(3)|skin(3)	53						c.e16-1		tetratricopeptide repeat domain 17							91	103	99					11																	43436141		2203	4300	6503	SO:0001630	splice_region_variant	55761						binding	g.chr11:43436141C>G	AK001540	CCDS31466.1	11p11.2	2013-01-10			ENSG00000052841	ENSG00000052841		"Tetratricopeptide (TTC) repeat domain containing"	25596	protein-coding gene	gene with protein product						12477932	Standard	NM_018259		Approved	FLJ10890	uc001mxi.3	Q96AE7	OTTHUMG00000166398	ENST00000039989.4:c.2065-1C>G	11.37:g.43436141C>G						TTC17_ENST00000299240.6_Splice_Site_p.P689_splice|TTC17_ENST00000526774.1_3'UTR	p.P689_splice	NM_018259.5	NP_060729.2	Q96AE7	TTC17_HUMAN			16	2080	+			689					G3XAB3|Q8NEC0	Splice_Site	SNP	ENST00000039989.4	37	c.2064_splice	CCDS31466.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.268708	0.80469	.	.	ENSG00000052841	ENST00000299240;ENST00000039989	T;T	0.64085	-0.08;-0.08	5.6	5.6	0.85130	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.049157	0.85682	D	0.000000	T	0.82125	0.4969	M	0.85945	2.785	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.82222	-0.0564	10	0.44086	T	0.13	-11.3095	19.6138	0.95622	0.0:1.0:0.0:0.0	.	689;689;689	Q8NEC0;Q96AE7;G3XAB3	.;TTC17_HUMAN;.	R	689	ENSP00000299240:P689R;ENSP00000039989:P689R	ENSP00000039989:P689R	P	+	2	0	TTC17	43392717	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.223000	0.72257	2.644000	0.89710	0.563000	0.77884	CCT		0.383	TTC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389577.2	NM_018259	Missense_Mutation	14	118	0	0	0	1	0	14	118					G	43436141	C	G	43436141	5	3	232	1	0	0	0	0	0	0	1	0	16681	695	24	5	2128	5	TTC17	11	43436141	Splice_Site	SNP	C	TCGA-HC-8259-01A-11D-2260-08	8960677	43436141	91570375	45	10811											
CCDC82	79780	broad.mit.edu	37	chr11	96117582	96117582	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttgattttgttcgtttcttcTtcatatgttgaaccgttgcc	5	21	7	8	2	3	2	1	2	2	0	4	2	3	2	2	0	2	4	2	0	2	10			TCGA-HC-8259-01A-11D-2260-08	TCGA-HC-8259-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a3672a-baa0-4d94-aad4-c88dfc3d357f	a537ec83-4cbe-4ddc-9116-39468c6bd4bb	g.chr11:96117582T>C	ENST00000278520.5	-	3	758	c.330A>G	c.(328-330)gaA>gaG	p.E110E	CCDC82_ENST00000542662.1_Silent_p.E110E|CCDC82_ENST00000525786.1_5'Flank|CCDC82_ENST00000423339.2_Silent_p.E110E			Q8N4S0	CCD82_HUMAN	coiled-coil domain containing 82	110										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)	19		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)		BRCA - Breast invasive adenocarcinoma(274;0.154)		TCGTTTCTTCTTCATATGTTG	0.338																																						ENST00000278520.5																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)	19						c.(328-330)gaA>gaG		coiled-coil domain containing 82							193	185	188					11																	96117582		2201	4297	6498	SO:0001819	synonymous_variant	79780						protein binding	g.chr11:96117582T>C	AF245436	CCDS8307.1	11q21	2006-03-09			ENSG00000149231	ENSG00000149231			26282	protein-coding gene	gene with protein product						12477932	Standard	NM_024725		Approved	FLJ23518	uc001pfx.4	Q8N4S0	OTTHUMG00000167678	ENST00000278520.5:c.330A>G	11.37:g.96117582T>C						CCDC82_ENST00000423339.2_Silent_p.E110E|CCDC82_ENST00000542662.1_Silent_p.E110E	p.E110E			Q8N4S0	CCD82_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.154)	3	758	-		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)	110					B3KPU7|Q8WV71|Q9H2Q5|Q9H5E3	Silent	SNP	ENST00000278520.5	37	c.330A>G	CCDS8307.1																																																																																				0.338	CCDC82-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395542.2	NM_024725		9	91	0	0	0	1	0	9	91					C	96117582	T	C	96117582	2	2	232	1	0	0	0	0	0	0	0	1	2856	1606	56	4		4	CCDC82	11	96117582	Silent	SNP	T	TCGA-HC-8259-01A-11D-2260-08	52681441	96117582	38888934	46	10812											
HTR3A	3359	broad.mit.edu	37	chr11	113853983	113853983	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttcgatgtccagaactgctcGctgaccttcaccagttggct	7	12	9	13	2	1	2	1	1	0	1	4	3	2	2	3	1	2	4	3	1	1	3			TCGA-HC-8259-01A-11D-2260-08	TCGA-HC-8259-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a3672a-baa0-4d94-aad4-c88dfc3d357f	a537ec83-4cbe-4ddc-9116-39468c6bd4bb	g.chr11:113853983G>T	ENST00000504030.2	+	5	961	c.516G>T	c.(514-516)tcG>tcT	p.S172S	HTR3A_ENST00000299961.5_Silent_p.S157S|HTR3A_ENST00000506841.2_Silent_p.S172S|HTR3A_ENST00000375498.2_Silent_p.S178S|HTR3A_ENST00000535865.1_5'UTR|HTR3A_ENST00000355556.2_Silent_p.S178S			P46098	5HT3A_HUMAN	5-hydroxytryptamine (serotonin) receptor 3A, ionotropic	172					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|cellular response to growth factor stimulus (GO:0071363)|digestion (GO:0007586)|ion transmembrane transport (GO:0034220)|response to cocaine (GO:0042220)|response to ethanol (GO:0045471)|serotonin receptor signaling pathway (GO:0007210)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	receptor activity (GO:0004872)|serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)|serotonin-activated cation-selective channel activity (GO:0005232)|voltage-gated potassium channel activity (GO:0005249)			central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	36		all_cancers(61;2.31e-17)|all_epithelial(67;2.1e-10)|all_hematologic(158;4.64e-05)|Melanoma(852;0.000312)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0294)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;2.71e-06)|Epithelial(105;2.58e-05)|all cancers(92;0.000238)|OV - Ovarian serous cystadenocarcinoma(223;0.191)	Alosetron(DB00969)|Amoxapine(DB00543)|Aripiprazole(DB01238)|Chloroprocaine(DB01161)|Cisapride(DB00604)|Clozapine(DB00363)|Dolasetron(DB00757)|Ergoloid mesylate(DB01049)|Granisetron(DB00889)|Loxapine(DB00408)|Memantine(DB01043)|Methadone(DB00333)|Metoclopramide(DB01233)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Ondansetron(DB00904)|Palonosetron(DB00377)|Procaine(DB00721)|Quetiapine(DB01224)|Rocuronium(DB00728)|Tapentadol(DB06204)|Trimipramine(DB00726)|Tubocurarine(DB01199)|Ziprasidone(DB00246)	AGAACTGCTCGCTGACCTTCA	0.587																																						ENST00000504030.2																			0				central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	36						c.(514-516)tcG>tcT		5-hydroxytryptamine (serotonin) receptor 3A, ionotropic	Alosetron(DB00969)|Chloroprocaine(DB01161)|Cisapride(DB00604)|Dolasetron(DB00757)|Granisetron(DB00889)|Mirtazapine(DB00370)|Ondansetron(DB00904)|Palonosetron(DB00377)|Procaine(DB00721)|Tubocurarine(DB01199)						185	169	174					11																	113853983		2201	4296	6497	SO:0001819	synonymous_variant	3359				digestion|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic membrane	serotonin binding|serotonin receptor activity|serotonin-activated cation-selective channel activity	g.chr11:113853983G>T	D49394	CCDS8365.1, CCDS8366.1, CCDS8365.2, CCDS8366.2, CCDS53710.1	11q23.1-q23.2	2012-05-22	2012-02-03					"5-HT (serotonin) receptors", "Ligand-gated ion channels / 5-HT (serotonin) receptors, ionotropic"	5297	protein-coding gene	gene with protein product		182139	"5-hydroxytryptamine (serotonin) receptor 3A"	HTR3		8530095, 12867984	Standard	NM_000869		Approved	5-HT3R, 5-HT3A	uc010rxb.2	P46098		ENST00000504030.2:c.516G>T	11.37:g.113853983G>T						HTR3A_ENST00000535865.1_5'UTR|HTR3A_ENST00000375498.2_Silent_p.S178S|HTR3A_ENST00000506841.2_Silent_p.S172S|HTR3A_ENST00000355556.2_Silent_p.S178S|HTR3A_ENST00000299961.5_Silent_p.S157S	p.S172S			P46098	5HT3A_HUMAN		BRCA - Breast invasive adenocarcinoma(274;2.71e-06)|Epithelial(105;2.58e-05)|all cancers(92;0.000238)|OV - Ovarian serous cystadenocarcinoma(223;0.191)	5	961	+		all_cancers(61;2.31e-17)|all_epithelial(67;2.1e-10)|all_hematologic(158;4.64e-05)|Melanoma(852;0.000312)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0294)|Medulloblastoma(222;0.0425)	172					B4DSY6|G5E986|O60854|Q7KZM7|Q99918|Q9BSZ9	Silent	SNP	ENST00000504030.2	37	c.516G>T																																																																																					0.587	HTR3A-001	KNOWN	upstream_ATG|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000360822.2	NM_000869		15	217	1	0	2.39187e-15	1	2.80646e-15	15	217					T	113853983	G	T	113853983	2	4	232	1	0	0	0	0	0	0	0	1	7444	1074	38	5		5	HTR3A	11	113853983	Silent	SNP	G	TCGA-HC-8259-01A-11D-2260-08	17736401	113853983	21152533	47	10813											
CD163	9332	broad.mit.edu	37	chr12	7647956	7647956	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctcaactgtcccagcacagcGgctgcctccacctctaagtc	8	8	7	18	1	2	0	1	0	1	0	5	0	4	0	4	1	4	2	4	1	2	1	rs201732077		TCGA-HC-8259-01A-11D-2260-08	TCGA-HC-8259-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a3672a-baa0-4d94-aad4-c88dfc3d357f	a537ec83-4cbe-4ddc-9116-39468c6bd4bb	g.chr12:7647956G>A	ENST00000359156.4	-	6	1343	c.1141C>T	c.(1141-1143)Cgc>Tgc	p.R381C	CD163_ENST00000432237.2_Missense_Mutation_p.R381C|CD163_ENST00000396620.3_Missense_Mutation_p.R381C|CD163_ENST00000541972.1_Missense_Mutation_p.R369C	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN	CD163 molecule	381	SRCR 4. {ECO:0000255|PROSITE- ProRule:PRU00196}.				acute-phase response (GO:0006953)|receptor-mediated endocytosis (GO:0006898)	endocytic vesicle membrane (GO:0030666)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76					WF10(DB05389)	CCAGCACAGCGGCTGCCTCCA	0.488													G|||	1	0.000199681	8e-04	0	5008	,	,		-128	0		0	False		,,,				2504	0					ENST00000359156.4																			0				breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76						c.(1141-1143)Cgc>Tgc		CD163 molecule							114	105	108					12																	7647956		2203	4300	6503	SO:0001583	missense	9332				acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity	g.chr12:7647956G>A	Z22968	CCDS8578.1, CCDS53742.1	12p13	2006-03-28	2006-03-28		ENSG00000177575	ENSG00000177575		"CD molecules"	1631	protein-coding gene	gene with protein product		605545	"CD163 antigen"			10403791, 8370408	Standard	NM_004244		Approved	M130, MM130	uc001qsz.3	Q86VB7	OTTHUMG00000168353	ENST00000359156.4:c.1141C>T	12.37:g.7647956G>A	ENSP00000352071:p.Arg381Cys					CD163_ENST00000396620.3_Missense_Mutation_p.R381C|CD163_ENST00000541972.1_Missense_Mutation_p.R369C|CD163_ENST00000432237.2_Missense_Mutation_p.R381C	p.R381C	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN			6	1343	-			381			SRCR 4.		C9JIG2|Q07898|Q07899|Q07900|Q07901|Q2VLH7	Missense_Mutation	SNP	ENST00000359156.4	37	c.1141C>T	CCDS8578.1	.	.	.	.	.	.	.	.	.	.	G	18.04	3.534237	0.64972	.	.	ENSG00000177575	ENST00000359156;ENST00000541972;ENST00000396620;ENST00000432237	T;T;T;T	0.37058	1.22;1.22;1.22;1.22	5.01	3.04	0.35103	Speract/scavenger receptor (2);Speract/scavenger receptor-related (2);	0.391785	0.22041	N	0.065450	T	0.56804	0.2010	M	0.79475	2.455	0.33923	D	0.641106	D;D;D	0.89917	1.0;0.998;1.0	D;P;D	0.65987	0.94;0.736;0.939	T	0.72083	-0.4397	10	0.72032	D	0.01	.	12.0923	0.53733	0.0:0.0:0.6933:0.3067	.	381;381;381	C9JHR8;Q86VB7-3;Q86VB7	.;.;C163A_HUMAN	C	381;369;381;381	ENSP00000352071:R381C;ENSP00000444071:R369C;ENSP00000379863:R381C;ENSP00000403885:R381C	ENSP00000352071:R381C	R	-	1	0	CD163	7539223	0.057000	0.20700	0.998000	0.56505	0.997000	0.91878	1.657000	0.37366	1.467000	0.48044	0.650000	0.86243	CGC		0.488	CD163-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000399396.2	NM_004244, NM_203416		7	62	0	0	0	1	0	7	62					A	7647956	G	A	7647956	3	1	232	1	0	0	0	0	1	0	0	0	2967	1116	39	2	2373	2	CD163	12	7647956	Missense_Mutation	SNP	G	TCGA-HC-8259-01A-11D-2260-08		7647956	126203939	48	10814											
CLEC1A	51267	broad.mit.edu	37	chr12	10224015	10224015	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccttctctcacagacacaacGcttcaattctttgcagtcct	9	13	4	15	1	4	1	2	0	2	1	6	1	5	1	2	0	2	2	2	0	2	4			TCGA-HC-8259-01A-11D-2260-08	TCGA-HC-8259-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a3672a-baa0-4d94-aad4-c88dfc3d357f	a537ec83-4cbe-4ddc-9116-39468c6bd4bb	g.chr12:10224015G>A	ENST00000315330.4	-	6	822	c.760C>T	c.(760-762)Cgt>Tgt	p.R254C	CLEC1A_ENST00000457018.2_Missense_Mutation_p.R221C|CLEC1A_ENST00000420265.2_Missense_Mutation_p.R162C	NM_016511.2	NP_057595.2	Q8NC01	CLC1A_HUMAN	C-type lectin domain family 1, member A	254	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				cell surface receptor signaling pathway (GO:0007166)|defense response (GO:0006952)	integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)	carbohydrate binding (GO:0030246)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(9)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)	23						CAGACACAACGCTTCAATTCT	0.483																																						ENST00000315330.4																			0				breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(9)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)	23						c.(760-762)Cgt>Tgt		C-type lectin domain family 1, member A							202	179	187					12																	10224015		2203	4300	6503	SO:0001583	missense	51267				cell surface receptor linked signaling pathway|defense response	integral to plasma membrane|intracellular	sugar binding|transmembrane receptor activity	g.chr12:10224015G>A	AY358587	CCDS8612.1, CCDS73443.1	12p13.31	2005-02-09				ENSG00000150048		"C-type lectin domain containing"	24355	protein-coding gene	gene with protein product		606782				10671229, 11745369	Standard	XM_005253383		Approved	CLEC1, MGC34328	uc001qxb.3	Q8NC01		ENST00000315330.4:c.760C>T	12.37:g.10224015G>A	ENSP00000326407:p.Arg254Cys					CLEC1A_ENST00000420265.2_Missense_Mutation_p.R162C|CLEC1A_ENST00000457018.2_Missense_Mutation_p.R221C	p.R254C	NM_016511.2	NP_057595.2	Q8NC01	CLC1A_HUMAN			6	822	-			254			C-type lectin.		Q8IUW7|Q9NZH3	Missense_Mutation	SNP	ENST00000315330.4	37	c.760C>T	CCDS8612.1	.	.	.	.	.	.	.	.	.	.	G	13.71	2.319627	0.41096	.	.	ENSG00000150048	ENST00000315330;ENST00000457018;ENST00000420265	T;T;T	0.20069	2.1;2.1;2.1	5.33	3.44	0.39384	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	0.143817	0.32175	N	0.006462	T	0.36690	0.0976	L	0.61387	1.9	0.42668	D	0.9935	D;D;P	0.89917	1.0;1.0;0.911	D;D;P	0.76071	0.987;0.976;0.519	T	0.07139	-1.0788	10	0.39692	T	0.17	.	6.2137	0.20644	0.0959:0.0:0.7127:0.1913	.	162;221;254	E7ESV9;E9PFB4;Q8NC01	.;.;CLC1A_HUMAN	C	254;221;162	ENSP00000326407:R254C;ENSP00000415048:R221C;ENSP00000417010:R162C	ENSP00000326407:R254C	R	-	1	0	CLEC1A	10115282	0.973000	0.33851	0.940000	0.37924	0.120000	0.20174	1.062000	0.30555	0.568000	0.29311	0.563000	0.77884	CGT		0.483	CLEC1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399924.1	NM_016511		11	181	0	0	0	1	0	11	181					A	10224015	G	A	10224015	3	1	232	1	0	0	0	0	1	0	0	0	3505	1087	38	1	86	1	CLEC1A	12	10224015	Missense_Mutation	SNP	G	TCGA-HC-8259-01A-11D-2260-08	2576059	10224015	123627880	49	10815											
IRAK4	51135	broad.mit.edu	37	chr12	44166061	44166061	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaacagatgcctttctgtgAcaaagacaggacattgatga	16	9	9	7	0	1	5	0	3	1	2	1	6	1	6	1	1	2	0	1	1	3	2			TCGA-HC-8259-01A-11D-2260-08	TCGA-HC-8259-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a3672a-baa0-4d94-aad4-c88dfc3d357f	a537ec83-4cbe-4ddc-9116-39468c6bd4bb	g.chr12:44166061A>T	ENST00000448290.2	+	4	457	c.386A>T	c.(385-387)gAc>gTc	p.D129V	IRAK4_ENST00000440781.2_Missense_Mutation_p.D5V|IRAK4_ENST00000551736.1_Missense_Mutation_p.D129V|IRAK4_ENST00000431837.1_Missense_Mutation_p.D5V	NM_016123.3	NP_057207.2	Q9NWZ3	IRAK4_HUMAN	interleukin-1 receptor-associated kinase 4	129					cytokine production (GO:0001816)|cytokine-mediated signaling pathway (GO:0019221)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)	cytosol (GO:0005829)|endosome membrane (GO:0010008)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)					all_cancers(12;0.00149)	Lung NSC(34;0.0804)|all_lung(34;0.181)		GBM - Glioblastoma multiforme(48;0.04)		CCTTTCTGTGACAAAGACAGG	0.373																																						ENST00000431837.1																			0											c.(13-15)gAc>gTc		interleukin-1 receptor-associated kinase 4							110	99	103					12																	44166061		2203	4300	6503	SO:0001583	missense	51135				innate immune response|MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr12:44166061A>T	AF155118	CCDS8744.1, CCDS44862.1	12q12	2014-09-17				ENSG00000198001			17967	protein-coding gene	gene with protein product		606883				3772297, 10508479	Standard	NM_001114182		Approved	NY-REN-64	uc001rnt.3	Q9NWZ3		ENST00000448290.2:c.386A>T	12.37:g.44166061A>T	ENSP00000390651:p.Asp129Val					IRAK4_ENST00000440781.2_Missense_Mutation_p.D5V|IRAK4_ENST00000448290.2_Missense_Mutation_p.D129V|IRAK4_ENST00000551736.1_Missense_Mutation_p.D129V	p.D5V	NM_001145256.1|NM_001145257.1	NP_001138728.1|NP_001138729.1	Q9NWZ3	IRAK4_HUMAN		GBM - Glioblastoma multiforme(48;0.04)	3	322	+	all_cancers(12;0.00149)	Lung NSC(34;0.0804)|all_lung(34;0.181)	129		I -> V (in dbSNP:rs56312115).			Q69FE1|Q8TDF7|Q9Y589	Missense_Mutation	SNP	ENST00000448290.2	37	c.14A>T	CCDS8744.1	.	.	.	.	.	.	.	.	.	.	A	10.74	1.436345	0.25813	.	.	ENSG00000198001	ENST00000440781;ENST00000431837;ENST00000448290;ENST00000551736;ENST00000356669	T;T;T;T	0.77358	-1.07;-1.07;-1.09;-1.09	5.39	-5.95	0.02241	.	1.404710	0.04224	N	0.334071	T	0.70657	0.3249	L	0.36672	1.1	0.09310	N	1	B	0.20052	0.041	B	0.30401	0.115	T	0.57946	-0.7723	10	0.29301	T	0.29	2.0483	14.6349	0.68682	0.8206:0.0:0.1794:0.0	.	129	Q9NWZ3	IRAK4_HUMAN	V	5;5;129;129;129	ENSP00000408734:D5V;ENSP00000390327:D5V;ENSP00000390651:D129V;ENSP00000446490:D129V	ENSP00000349096:D129V	D	+	2	0	IRAK4	42452328	0.008000	0.16893	0.000000	0.03702	0.006000	0.05464	-0.259000	0.08721	-0.974000	0.03550	-0.912000	0.02778	GAC		0.373	IRAK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403947.1			3	58	0	0	0	1	0	3	58					T	44166061	A	T	44166061	3	4	232	1	0	0	0	0	1	0	0	0	7825	275	10	5	396	5	IRAK4	12	44166061	Missense_Mutation	SNP	A	TCGA-HC-8259-01A-11D-2260-08	33942046	44166061	89685834	50	10816											
LRP1	4035	broad.mit.edu	37	chr12	57581134	57581134	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacgacatccaccatcacgcGccacacagtggaccagaccc	12	3	7	19	3	1	1	1	0	0	1	2	3	2	2	5	1	0	0	5	1	0	0			TCGA-HC-8259-01A-11D-2260-08	TCGA-HC-8259-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a3672a-baa0-4d94-aad4-c88dfc3d357f	a537ec83-4cbe-4ddc-9116-39468c6bd4bb	g.chr12:57581134G>A	ENST00000243077.3	+	42	7392	c.6926G>A	c.(6925-6927)cGc>cAc	p.R2309H		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	2309					aging (GO:0007568)|aorta morphogenesis (GO:0035909)|apoptotic cell clearance (GO:0043277)|beta-amyloid clearance (GO:0097242)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of platelet-derived growth factor receptor-beta signaling pathway (GO:2000587)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of Wnt signaling pathway (GO:0030178)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of lipid transport (GO:0032370)|positive regulation of protein transport (GO:0051222)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|receptor-mediated endocytosis (GO:0006898)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cholesterol transport (GO:0032374)|regulation of phospholipase A2 activity (GO:0032429)|retinoid metabolic process (GO:0001523)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|lipoprotein particle receptor binding (GO:0070325)|lipoprotein transporter activity (GO:0042954)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|receptor activity (GO:0004872)			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	ACCATCACGCGCCACACAGTG	0.602																																						ENST00000243077.3																			0				NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184						c.(6925-6927)cGc>cAc		low density lipoprotein receptor-related protein 1	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)						95	87	90					12																	57581134		2203	4300	6503	SO:0001583	missense	4035				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity	g.chr12:57581134G>A	X13916	CCDS8932.1	12q13.3	2013-05-28	2010-01-26		ENSG00000123384	ENSG00000123384		"CD molecules", "Low density lipoprotein receptors"	6692	protein-coding gene	gene with protein product		107770	"alpha-2-macroglobulin receptor"	APR, A2MR		2548950	Standard	NM_002332		Approved	LRP, CD91, LRP1A, APOER	uc001snd.3	Q07954	OTTHUMG00000044412	ENST00000243077.3:c.6926G>A	12.37:g.57581134G>A	ENSP00000243077:p.Arg2309His						p.R2309H	NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.0103)	42	7392	+			2309					Q2PP12|Q86SW0|Q8IVG8	Missense_Mutation	SNP	ENST00000243077.3	37	c.6926G>A	CCDS8932.1	.	.	.	.	.	.	.	.	.	.	G	15.34	2.805251	0.50315	.	.	ENSG00000123384	ENST00000243077	D	0.92048	-2.96	4.39	3.48	0.39840	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.64402	D	0.000003	D	0.95677	0.8594	M	0.82323	2.585	0.80722	D	1	D	0.89917	1.0	D	0.78314	0.991	D	0.95817	0.8846	10	0.72032	D	0.01	.	12.8501	0.57852	0.0:0.0:0.8351:0.1649	.	2309	Q07954	LRP1_HUMAN	H	2309	ENSP00000243077:R2309H	ENSP00000243077:R2309H	R	+	2	0	LRP1	55867401	1.000000	0.71417	1.000000	0.80357	0.551000	0.35334	9.566000	0.98157	1.177000	0.42855	-0.181000	0.13052	CGC		0.602	LRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412772.2	NM_002332		3	83	0	0	0	1	0	3	83					A	57581134	G	A	57581134	3	1	232	1	0	0	0	0	1	0	0	0	8951	1087	38	1	7092	1	LRP1	12	57581134	Missense_Mutation	SNP	G	TCGA-HC-8259-01A-11D-2260-08	13415073	57581134	76270761	51	10817											
STAC3	246329	broad.mit.edu	37	chr12	57640646	57640646	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgccatgatcaccccagtgcGcagggtttcaaacacaggat	11	8	10	12	1	2	1	2	1	0	0	2	2	2	2	3	2	3	2	3	2	1	1			TCGA-HC-8259-01A-11D-2260-08	TCGA-HC-8259-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a3672a-baa0-4d94-aad4-c88dfc3d357f	a537ec83-4cbe-4ddc-9116-39468c6bd4bb	g.chr12:57640646G>A	ENST00000332782.2	-	6	745	c.544C>T	c.(544-546)Cgc>Tgc	p.R182C	STAC3_ENST00000546246.2_5'UTR|STAC3_ENST00000554578.1_Missense_Mutation_p.R143C	NM_145064.1	NP_659501.1	Q96MF2	STAC3_HUMAN	SH3 and cysteine rich domain 3	182					intracellular signal transduction (GO:0035556)|neuromuscular synaptic transmission (GO:0007274)|skeletal muscle contraction (GO:0003009)|skeletal muscle fiber development (GO:0048741)		identical protein binding (GO:0042802)|metal ion binding (GO:0046872)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(10)|ovary(2)|skin(1)	18						ACCCCAGTGCGCAGGGTTTCA	0.507																																						ENST00000332782.2																			0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(10)|ovary(2)|skin(1)	18						c.(544-546)Cgc>Tgc		SH3 and cysteine rich domain 3							259	208	225					12																	57640646		2203	4300	6503	SO:0001583	missense	246329				intracellular signal transduction		identical protein binding|metal ion binding	g.chr12:57640646G>A	AK057013	CCDS8936.1, CCDS66405.1, CCDS66406.1	12q13.3	2014-08-12			ENSG00000185482	ENSG00000185482			28423	protein-coding gene	gene with protein product		615521				12477932	Standard	NM_001286257		Approved	MGC2793	uc009zpl.2	Q96MF2	OTTHUMG00000171271	ENST00000332782.2:c.544C>T	12.37:g.57640646G>A	ENSP00000329200:p.Arg182Cys					STAC3_ENST00000546246.2_5'UTR|STAC3_ENST00000554578.1_Missense_Mutation_p.R143C	p.R182C	NM_145064.1	NP_659501.1	Q96MF2	STAC3_HUMAN			6	745	-			182					B4DUK9|Q96HU5	Missense_Mutation	SNP	ENST00000332782.2	37	c.544C>T	CCDS8936.1	.	.	.	.	.	.	.	.	.	.	G	18.57	3.652528	0.67472	.	.	ENSG00000185482	ENST00000554578;ENST00000332782	D;D	0.84442	-1.8;-1.85	4.74	4.74	0.60224	.	0.000000	0.85682	D	0.000000	D	0.90707	0.7084	M	0.69823	2.125	0.80722	D	1	D	0.89917	1.0	D	0.75020	0.985	D	0.91267	0.5041	10	0.87932	D	0	-10.6552	12.4861	0.55874	0.0:0.0:0.8322:0.1678	.	182	Q96MF2	STAC3_HUMAN	C	143;182	ENSP00000452068:R143C;ENSP00000329200:R182C	ENSP00000329200:R182C	R	-	1	0	STAC3	55926913	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.502000	0.53332	2.573000	0.86826	0.655000	0.94253	CGC		0.507	STAC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412724.2	NM_145064		4	201	0	0	0	1	0	4	201					A	57640646	G	A	57640646	3	1	232	1	0	0	0	0	1	0	0	0	15240	1087	38	1	578	1	STAC3	12	57640646	Missense_Mutation	SNP	G	TCGA-HC-8259-01A-11D-2260-08	59512	57640646	76211249	52	10818											
TMTC2	160335	broad.mit.edu	37	chr12	83251221	83251221	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	gccagaacctggggctggttCctggggtcaggactgtgcgc	5	8	17	11	1	1	1	1	0	0	1	2	2	2	2	3	6	2	2	3	6	1	1			TCGA-HC-8259-01A-11D-2260-08	TCGA-HC-8259-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a3672a-baa0-4d94-aad4-c88dfc3d357f	a537ec83-4cbe-4ddc-9116-39468c6bd4bb	g.chr12:83251221C>G	ENST00000321196.3	+	2	1223	c.516C>G	c.(514-516)ttC>ttG	p.F172L	TMTC2_ENST00000549919.1_Missense_Mutation_p.F166L|TMTC2_ENST00000548305.1_Missense_Mutation_p.F172L	NM_152588.1	NP_689801.1	Q8N394	TMTC2_HUMAN	transmembrane and tetratricopeptide repeat containing 2	172					calcium ion homeostasis (GO:0055074)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(7)|lung(13)|ovary(2)|skin(1)|urinary_tract(1)	39						GGGGCTGGTTCCTGGGGTCAG	0.512																																						ENST00000549919.1																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(7)|lung(13)|ovary(2)|skin(1)|urinary_tract(1)	39						c.(496-498)ttC>ttG		transmembrane and tetratricopeptide repeat containing 2							92	74	80					12																	83251221		2203	4300	6503	SO:0001583	missense	160335					endoplasmic reticulum|integral to membrane	binding	g.chr12:83251221C>G	AK074634	CCDS9025.1	12q21.31	2014-06-09			ENSG00000179104	ENSG00000179104		"Tetratricopeptide (TTC) repeat domain containing"	25440	protein-coding gene	gene with protein product		615856				24764305	Standard	NM_152588		Approved	DKFZp762A217	uc001szt.3	Q8N394	OTTHUMG00000169736	ENST00000321196.3:c.516C>G	12.37:g.83251221C>G	ENSP00000322300:p.Phe172Leu					TMTC2_ENST00000321196.3_Missense_Mutation_p.F172L|TMTC2_ENST00000548305.1_Missense_Mutation_p.F172L	p.F166L			Q8N394	TMTC2_HUMAN			3	2303	+			172					B2RCU7|Q8N2K8	Missense_Mutation	SNP	ENST00000321196.3	37	c.498C>G	CCDS9025.1	.	.	.	.	.	.	.	.	.	.	C	5.254	0.232272	0.09969	.	.	ENSG00000179104	ENST00000321196;ENST00000548305;ENST00000549919	T;T;T	0.58210	0.97;0.35;0.86	5.6	4.69	0.59074	.	0.109437	0.64402	D	0.000006	T	0.22820	0.0551	N	0.02403	-0.565	0.47407	D	0.999417	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.001	T	0.22417	-1.0217	10	0.02654	T	1	-24.351	12.5623	0.56288	0.0:0.9234:0.0:0.0766	.	172;172	Q8N394;F8VSH2	TMTC2_HUMAN;.	L	172;172;166	ENSP00000322300:F172L;ENSP00000448292:F172L;ENSP00000447609:F166L	ENSP00000322300:F172L	F	+	3	2	TMTC2	81775352	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	1.443000	0.35057	2.788000	0.95919	0.650000	0.86243	TTC		0.512	TMTC2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405663.1	NM_152588		21	20	0	0	0	1	0	21	20					G	83251221	C	G	83251221	3	3	232	1	0	0	0	0	1	0	0	0	16258	854	30	5	522	5	TMTC2	12	83251221	Missense_Mutation	SNP	C	TCGA-HC-8259-01A-11D-2260-08	25610575	83251221	50600674	53	10819											
GOLGA3	2802	broad.mit.edu	37	chr12	133353557	133353557	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgtcacctcttggtttcccAcgggctgtttgctgagctgc	3	13	11	14	2	2	1	1	1	1	0	3	1	3	1	3	2	3	5	3	2	0	3			TCGA-HC-8259-01A-11D-2260-08	TCGA-HC-8259-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a3672a-baa0-4d94-aad4-c88dfc3d357f	a537ec83-4cbe-4ddc-9116-39468c6bd4bb	g.chr12:133353557A>T	ENST00000450791.2	-	19	4025	c.3842T>A	c.(3841-3843)gTg>gAg	p.V1281E	GOLGA3_ENST00000456883.2_Missense_Mutation_p.V1281E|GOLGA3_ENST00000204726.3_Missense_Mutation_p.V1281E			Q08378	GOGA3_HUMAN	golgin A3	1281	Gln-rich.			V -> A (in Ref. 2; AAL93149). {ECO:0000305}.	intra-Golgi vesicle-mediated transport (GO:0006891)	cytosol (GO:0005829)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extrinsic component of Golgi membrane (GO:0090498)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi transport complex (GO:0017119)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	transporter activity (GO:0005215)			breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06)		TTGGTTTCCCACGGGCTGTTT	0.627																																						ENST00000204726.3																			0				breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						c.(3841-3843)gTg>gAg		golgin A3							57	47	50					12																	133353557		2203	4300	6503	SO:0001583	missense	2802				intra-Golgi vesicle-mediated transport	Golgi cisterna membrane|Golgi transport complex	protein binding|transporter activity	g.chr12:133353557A>T	AF485338	CCDS9281.1, CCDS53846.1	12q24.33	2010-02-12	2010-02-12		ENSG00000090615	ENSG00000090615			4426	protein-coding gene	gene with protein product	"SY2/SY10 protein", "Golgi complex-associated protein of 170 kD"	602581	"golgi autoantigen, golgin subfamily a, 3"			8315394, 15829563	Standard	NM_001172557		Approved	golgin-160, GCP170, MEA-2	uc001ukz.1	Q08378	OTTHUMG00000168023	ENST00000450791.2:c.3842T>A	12.37:g.133353557A>T	ENSP00000410378:p.Val1281Glu					GOLGA3_ENST00000456883.2_Missense_Mutation_p.V1281E|GOLGA3_ENST00000450791.2_Missense_Mutation_p.V1281E	p.V1281E	NM_005895.3	NP_005886.2	Q08378	GOGA3_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06)	20	4400	-	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)	1281	V -> A (in Ref. 2; AAL93149).		Gln-rich.		A5PKX6|O43241|Q6P9C7|Q86XW3|Q8TDA9|Q8WZA3	Missense_Mutation	SNP	ENST00000450791.2	37	c.3842T>A	CCDS9281.1	.	.	.	.	.	.	.	.	.	.	A	0.162	-1.080503	0.01888	.	.	ENSG00000090615	ENST00000204726;ENST00000450791;ENST00000456883	T;T;T	0.76448	-1.02;-1.02;1.67	5.75	-2.15	0.07102	.	1.727610	0.02880	N	0.132746	T	0.61788	0.2375	L	0.27053	0.805	0.09310	N	0.999999	B;B	0.13145	0.006;0.007	B;B	0.14578	0.008;0.011	T	0.53500	-0.8430	10	0.02654	T	1	.	8.7634	0.34689	0.3618:0.0:0.5199:0.1183	.	1281;1281	Q08378-2;Q08378	.;GOGA3_HUMAN	E	1281	ENSP00000204726:V1281E;ENSP00000410378:V1281E;ENSP00000409303:V1281E	ENSP00000204726:V1281E	V	-	2	0	GOLGA3	131863630	0.001000	0.12720	0.000000	0.03702	0.350000	0.29205	1.550000	0.36223	-0.639000	0.05502	0.528000	0.53228	GTG		0.627	GOLGA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397569.2	NM_005895		3	38	0	0	0	1	0	3	38					T	133353557	A	T	133353557	3	4	232	1	0	0	0	0	1	0	0	0	6554	159	6	5	674	5	GOLGA3	12	133353557	Missense_Mutation	SNP	A	TCGA-HC-8259-01A-11D-2260-08	50102336	133353557	498338	54	10820											
ARGLU1	55082	broad.mit.edu	37	chr13	107219953	107219955	+	In_Frame_Del	DEL	CTC	CTC	-																															cgctcgaactccgctttcttCtcctcctcctctcgcttctg																										TCGA-HC-8259-01A-11D-2260-08	TCGA-HC-8259-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a3672a-baa0-4d94-aad4-c88dfc3d357f	a537ec83-4cbe-4ddc-9116-39468c6bd4bb	g.chr13:107219953_107219955delCTC	ENST00000400198.3	-	1	557_559	c.313_315delGAG	c.(313-315)gagdel	p.E105del		NM_018011.3	NP_060481.3	Q9NWB6	ARGL1_HUMAN	arginine and glutamate rich 1	105	Glu-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	mitochondrion (GO:0005739)|nucleus (GO:0005634)				large_intestine(1)|lung(5)|pancreas(1)	7	Lung NSC(43;0.015)|all_neural(89;0.0741)|Lung SC(71;0.14)|Medulloblastoma(90;0.169)					CCGCTTTCTTCTCCTCCTCCTCT	0.714																																						ENST00000400198.3																			0				large_intestine(1)|lung(5)|pancreas(1)	7						c.(313-315)del		arginine and glutamate rich 1																																				SO:0001651	inframe_deletion	55082							g.chr13:107219953_107219955delCTC	BC071587	CCDS41906.1	13q33.3	2011-10-03	2007-11-28		ENSG00000134884	ENSG00000134884			25482	protein-coding gene	gene with protein product		614046				21454576	Standard	NM_018011		Approved	FLJ10154	uc001vqk.4	Q9NWB6	OTTHUMG00000017321	ENST00000400198.3:c.313_315delGAG	13.37:g.107219962_107219964delCTC	ENSP00000383059:p.Glu105del						p.E105del	NM_018011.3	NP_060481.3	Q9NWB6	ARGL1_HUMAN			1	557_559	-	Lung NSC(43;0.015)|all_neural(89;0.0741)|Lung SC(71;0.14)|Medulloblastoma(90;0.169)		105			Glu-rich.		B4E0Y3|Q5T257|Q6IQ34	In_Frame_Del	DEL	ENST00000400198.3	37	c.313_315delGAG	CCDS41906.1																																																																																				0.714	ARGLU1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045727.1	NM_018011		7	192						7	192	---	---	---	---	-	107219955	CTC	-	107219953	7	5	232	1	0	1	0	1	0	0	0	0	860	912	32	0	522	0	ARGLU1	13	107219953	In_Frame_Del	DEL	CTC	TCGA-HC-8259-01A-11D-2260-08		107219953	7949925	55	10821											
COCH	1690	broad.mit.edu	37	chr14	31348049	31348049	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	caactcagggggacctgtacGagtctatagcctacctggtc	9	9	11	12	1	2	0	1	0	1	0	3	2	2	1	3	3	4	1	3	3	5	4	rs188283330	byFrequency	TCGA-HC-8259-01A-11D-2260-08	TCGA-HC-8259-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a3672a-baa0-4d94-aad4-c88dfc3d357f	a537ec83-4cbe-4ddc-9116-39468c6bd4bb	g.chr14:31348049G>A	ENST00000396618.3	+	5	328	c.272G>A	c.(271-273)cGa>cAa	p.R91Q	COCH_ENST00000382493.4_5'Flank|COCH_ENST00000460581.2_5'UTR|COCH_ENST00000216361.4_Missense_Mutation_p.R91Q|COCH_ENST00000475087.1_Missense_Mutation_p.R91Q|RP11-829H16.3_ENST00000555108.1_RNA	NM_004086.2	NP_004077.1	O43405	COCH_HUMAN	cochlin	91	LCCL. {ECO:0000255|PROSITE- ProRule:PRU00123}.				defense response to bacterium (GO:0042742)|positive regulation of innate immune response (GO:0045089)|regulation of cell shape (GO:0008360)|sensory perception of sound (GO:0007605)	extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)				central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|pancreas(1)|skin(3)	19	Hepatocellular(127;0.0877)|Breast(36;0.148)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)|BRCA - Breast invasive adenocarcinoma(188;0.0805)	GBM - Glioblastoma multiforme(265;0.00645)		GGACCTGTACGAGTCTATAGC	0.458													G|||	5	0.000998403	8e-04	0	5008	,	,		18309	0.004		0	False		,,,				2504	0					ENST00000396618.3																			0				central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|pancreas(1)|skin(3)	19						c.(271-273)cGa>cAa		cochlin		G	GLN/ARG,GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	121	106	111		272,272	5.8	0.2	14		111	3,8597	3.0+/-9.4	0,3,4297	yes	missense,missense	COCH	NM_001135058.1,NM_004086.2	43,43	0,4,6499	AA,AG,GG		0.0349,0.0227,0.0308	possibly-damaging,possibly-damaging	91/551,91/551	31348049	4,13002	2203	4300	6503	SO:0001583	missense	1690				sensory perception of sound	proteinaceous extracellular matrix		g.chr14:31348049G>A		CCDS9640.1	14q11.2-q13	2013-05-01	2013-05-01		ENSG00000100473	ENSG00000100473			2180	protein-coding gene	gene with protein product		603196	"coagulation factor C (Limulus polyphemus homolog); cochlin", "coagulation factor C homolog, cochlin (Limulus polyphemus)"	DFNA31, DFNA9		9806553	Standard	NM_004086		Approved	COCH-5B2	uc001wqp.2	O43405	OTTHUMG00000029432	ENST00000396618.3:c.272G>A	14.37:g.31348049G>A	ENSP00000379862:p.Arg91Gln					COCH_ENST00000216361.4_Missense_Mutation_p.R91Q|RP11-829H16.3_ENST00000555108.1_RNA|COCH_ENST00000460581.2_5'UTR|COCH_ENST00000475087.1_Missense_Mutation_p.R91Q	p.R91Q	NM_004086.2	NP_004077.1	O43405	COCH_HUMAN	LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)|BRCA - Breast invasive adenocarcinoma(188;0.0805)	GBM - Glioblastoma multiforme(265;0.00645)	5	328	+	Hepatocellular(127;0.0877)|Breast(36;0.148)		91			LCCL.		A8K9K9|D3DS84|Q96IU6	Missense_Mutation	SNP	ENST00000396618.3	37	c.272G>A	CCDS9640.1	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	G	18.62	3.663600	0.67700	2.27E-4	3.49E-4	ENSG00000100473	ENST00000216361;ENST00000396618;ENST00000475087;ENST00000556908	D;D;D;D	0.88818	-2.43;-2.43;-2.43;-2.43	5.85	5.85	0.93711	LCCL (5);	0.213012	0.47852	D	0.000219	D	0.90882	0.7135	L	0.33624	1.015	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.997	D	0.87220	0.2253	10	0.16420	T	0.52	-9.0279	17.9364	0.89013	0.0:0.0:1.0:0.0	.	91;91	Q96IU6;O43405	.;COCH_HUMAN	Q	91;91;91;75	ENSP00000216361:R91Q;ENSP00000379862:R91Q;ENSP00000451528:R91Q;ENSP00000452541:R75Q	ENSP00000216361:R91Q	R	+	2	0	COCH	30417800	0.672000	0.27530	0.159000	0.22649	0.990000	0.78478	3.342000	0.52159	2.773000	0.95371	0.655000	0.94253	CGA		0.458	COCH-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276608.1	NM_004086		4	58	0	0	0	1	0	4	58					A	31348049	G	A	31348049	3	1	232	1	0	0	0	0	1	0	0	0	3656	1058	37	2	286	2	COCH	14	31348049	Missense_Mutation	SNP	G	TCGA-HC-8259-01A-11D-2260-08		31348049	76001491	56	10822											
KCNH5	27133	broad.mit.edu	37	chr14	63447901	63447901	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaagtagttttaaaagcacAataatgtaaaataatgtgtg	18	12	7	4	0	0	0	0	0	0	0	0	0	0	0	1	0	1	4	1	0	9	6			TCGA-HC-8259-01A-11D-2260-08	TCGA-HC-8259-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a3672a-baa0-4d94-aad4-c88dfc3d357f	a537ec83-4cbe-4ddc-9116-39468c6bd4bb	g.chr14:63447901A>G	ENST00000322893.7	-	6	899	c.631T>C	c.(631-633)Tgt>Cgt	p.C211R	KCNH5_ENST00000394964.2_Missense_Mutation_p.C153R|KCNH5_ENST00000394968.1_Missense_Mutation_p.C153R|KCNH5_ENST00000420622.2_Missense_Mutation_p.C211R	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 5	211					potassium ion transmembrane transport (GO:0071805)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		TTAAAAGCACAATAATGTAAA	0.363																																						ENST00000322893.7																			0				NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99						c.(631-633)Tgt>Cgt		potassium voltage-gated channel, subfamily H (eag-related), member 5							73	74	73					14																	63447901		2203	4300	6503	SO:0001583	missense	27133				regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity	g.chr14:63447901A>G	U69185	CCDS9756.1, CCDS45122.1	14q23.1	2012-07-05			ENSG00000140015	ENSG00000140015		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6254	protein-coding gene	gene with protein product		605716				9738473, 16382104	Standard	NM_139318		Approved	Kv10.2, H-EAG2, eag2	uc001xfx.3	Q8NCM2	OTTHUMG00000029041	ENST00000322893.7:c.631T>C	14.37:g.63447901A>G	ENSP00000321427:p.Cys211Arg					KCNH5_ENST00000394964.2_Missense_Mutation_p.C153R|KCNH5_ENST00000394968.1_Missense_Mutation_p.C153R|KCNH5_ENST00000420622.2_Missense_Mutation_p.C211R	p.C211R	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)	6	899	-			211					C9JP98	Missense_Mutation	SNP	ENST00000322893.7	37	c.631T>C	CCDS9756.1	.	.	.	.	.	.	.	.	.	.	A	19.39	3.818462	0.71028	.	.	ENSG00000140015	ENST00000322893;ENST00000420622;ENST00000394968;ENST00000394964	D;D;D;D	0.98849	-5.18;-5.0;-4.99;-5.0	5.26	5.26	0.73747	.	0.000000	0.85682	D	0.000000	D	0.98741	0.9577	M	0.66939	2.045	0.80722	D	1	P;P;P;D	0.63046	0.883;0.889;0.889;0.992	B;P;P;D	0.64237	0.335;0.637;0.637;0.923	D	0.99655	1.0992	10	0.59425	D	0.04	.	15.1763	0.72913	1.0:0.0:0.0:0.0	.	153;153;211;211	Q86XI1;Q8NCM2-3;Q8NCM2-2;Q8NCM2	.;.;.;KCNH5_HUMAN	R	211;211;153;153	ENSP00000321427:C211R;ENSP00000395439:C211R;ENSP00000378419:C153R;ENSP00000378415:C153R	ENSP00000321427:C211R	C	-	1	0	KCNH5	62517654	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.273000	0.95719	1.991000	0.58162	0.377000	0.23210	TGT		0.363	KCNH5-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411747.1	NM_139318		3	26	0	0	0	1	0	3	26					G	63447901	A	G	63447901	3	3	232	1	0	0	0	0	1	0	0	0	8035	130	5	4	2393	4	KCNH5	14	63447901	Missense_Mutation	SNP	A	TCGA-HC-8259-01A-11D-2260-08	32099852	63447901	43901639	57	10823											
TTC8	123016	broad.mit.edu	37	chr14	89307828	89307828	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttatctaggctgaatttaacAaagtattcccagaaacctaa	16	12	5	8	0	1	2	0	1	1	1	2	2	2	2	2	1	2	2	2	1	8	7			TCGA-HC-8259-01A-11D-2260-08	TCGA-HC-8259-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a3672a-baa0-4d94-aad4-c88dfc3d357f	a537ec83-4cbe-4ddc-9116-39468c6bd4bb	g.chr14:89307828A>G	ENST00000345383.5	+	5	603	c.519A>G	c.(517-519)acA>acG	p.T173T	TTC8_ENST00000358622.5_5'Flank|Y_RNA_ENST00000384612.1_RNA|TTC8_ENST00000346301.4_Intron|TTC8_ENST00000338104.6_Silent_p.T173T|TTC8_ENST00000536576.1_Intron|TTC8_ENST00000380656.2_Silent_p.T183T|TTC8_ENST00000354441.6_Intron	NM_198309.2	NP_938051.1	Q8TAM2	TTC8_HUMAN	tetratricopeptide repeat domain 8	183					axon guidance (GO:0007411)|camera-type eye photoreceptor cell differentiation (GO:0060219)|cilium assembly (GO:0042384)|establishment of anatomical structure orientation (GO:0048560)|fat cell differentiation (GO:0045444)|multicellular organism growth (GO:0035264)|nonmotile primary cilium assembly (GO:0035058)|olfactory bulb development (GO:0021772)|protein transport (GO:0015031)|regulation of protein localization (GO:0032880)|renal tubule development (GO:0061326)|sensory perception of smell (GO:0007608)|sensory processing (GO:0050893)	BBSome (GO:0034464)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|cytoplasm (GO:0005737)|photoreceptor connecting cilium (GO:0032391)|plasma membrane (GO:0005886)	RNA polymerase II repressing transcription factor binding (GO:0001103)			endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|prostate(1)	15						TGAATTTAACAAAGTATTCCC	0.318																																						ENST00000338104.6																			0				endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|prostate(1)	15						c.(517-519)acA>acG		tetratricopeptide repeat domain 8							70	73	72					14																	89307828		2202	4296	6498	SO:0001819	synonymous_variant	123016				cilium assembly|establishment of anatomical structure orientation|sensory processing	BBSome|centrosome|cilium membrane|microtubule basal body	protein binding	g.chr14:89307828A>G	AK093891	CCDS9885.1, CCDS9886.1, CCDS32137.1, CCDS73674.1, CCDS73675.1	14q31.3	2013-02-14				ENSG00000165533		"Tetratricopeptide (TTC) repeat domain containing"	20087	protein-coding gene	gene with protein product		608132				14520415, 20451172	Standard	NM_144596		Approved	BBS8, RP51	uc001xxi.3	Q8TAM2		ENST00000345383.5:c.519A>G	14.37:g.89307828A>G						TTC8_ENST00000380656.2_Silent_p.T183T|TTC8_ENST00000345383.5_Silent_p.T173T|TTC8_ENST00000354441.6_Intron|TTC8_ENST00000346301.4_Intron|TTC8_ENST00000536576.1_Intron	p.T173T			Q8TAM2	TTC8_HUMAN			5	571	+			183					A6NFG2|B3KWA5|Q67B97|Q86SY0|Q86TV9|Q86U26|Q8NDH9|Q96DG8	Silent	SNP	ENST00000345383.5	37	c.519A>G	CCDS9885.1																																																																																				0.318	TTC8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410861.1	NM_144596		6	55	0	0	0	1	0	6	55					G	89307828	A	G	89307828	2	3	232	1	0	0	0	0	0	0	0	1	16711	117	5	4		4	TTC8	14	89307828	Silent	SNP	A	TCGA-HC-8259-01A-11D-2260-08	25859927	89307828	18041712	58	10824											
C15orf2	23742	broad.mit.edu	37	chr15	24923472	24923472	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catcgttatccaagcctgccAttgacaccagtgacatgaat	12	10	7	12	1	0	3	0	3	0	0	2	3	1	3	4	0	2	1	4	0	3	2			TCGA-HC-8259-01A-11D-2260-08	TCGA-HC-8259-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a3672a-baa0-4d94-aad4-c88dfc3d357f	a537ec83-4cbe-4ddc-9116-39468c6bd4bb	g.chr15:24923472A>T	ENST00000329468.2	+	1	2932	c.2458A>T	c.(2458-2460)Att>Ttt	p.I820F		NM_018958.2	NP_061831.2	Q9NZP6	NPAP1_HUMAN	nuclear pore associated protein 1	820					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)											CAAGCCTGCCATTGACACCAG	0.502																																						ENST00000329468.2																			0											c.(2458-2460)Att>Ttt		nuclear pore associated protein 1							143	137	139					15																	24923472		2203	4300	6503	SO:0001583	missense	23742							g.chr15:24923472A>T	AF179681	CCDS10015.1	15q11-q13	2012-07-19	2012-06-14	2012-06-14	ENSG00000185823	ENSG00000185823			1190	protein-coding gene	gene with protein product		610922	"chromosome 15 open reading frame 2"	C15orf2		10783265, 22694955	Standard	NM_018958		Approved		uc001ywo.3	Q9NZP6	OTTHUMG00000129179	ENST00000329468.2:c.2458A>T	15.37:g.24923472A>T	ENSP00000333735:p.Ile820Phe						p.I820F	NM_018958.2	NP_061831.2					1	2932	+									Missense_Mutation	SNP	ENST00000329468.2	37	c.2458A>T	CCDS10015.1	.	.	.	.	.	.	.	.	.	.	.	2.915	-0.224414	0.06061	.	.	ENSG00000185823	ENST00000329468	T	0.06608	3.28	1.7	-3.41	0.04839	.	.	.	.	.	T	0.03095	0.0091	L	0.29908	0.895	0.09310	N	1	B	0.22983	0.078	B	0.13407	0.009	T	0.47459	-0.9116	9	0.07813	T	0.8	.	2.4943	0.04618	0.2839:0.0:0.3217:0.3944	.	820	Q9NZP6	CO002_HUMAN	F	820	ENSP00000333735:I820F	ENSP00000333735:I820F	I	+	1	0	C15orf2	22474565	0.010000	0.17322	0.000000	0.03702	0.004000	0.04260	-0.460000	0.06720	-1.660000	0.01486	-0.760000	0.03462	ATT		0.502	NPAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251253.1	NM_018958		63	96	0	0	0	1	0	63	96					T	24923472	A	T	24923472	3	4	232	1	0	0	0	0	1	0	0	0	1784	217	8	5	2460	5	C15orf2	15	24923472	Missense_Mutation	SNP	A	TCGA-HC-8259-01A-11D-2260-08		24923472	77607920	59	10825											
XYLT1	64131	broad.mit.edu	37	chr16	17294398	17294398	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gatggccttgaacatgcgctGcaactgccgagaggcacggc	9	6	14	12	3	0	2	0	1	0	1	0	4	0	2	2	3	5	3	2	3	2	1			TCGA-HC-8259-01A-11D-2260-08	TCGA-HC-8259-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a3672a-baa0-4d94-aad4-c88dfc3d357f	a537ec83-4cbe-4ddc-9116-39468c6bd4bb	g.chr16:17294398G>A	ENST00000261381.6	-	4	1111	c.1027C>T	c.(1027-1029)Cag>Tag	p.Q343*		NM_022166.3	NP_071449.1	Q86Y38	XYLT1_HUMAN	xylosyltransferase I	343					cellular response to heat (GO:0034605)|chondroitin sulfate biosynthetic process (GO:0030206)|glycosaminoglycan biosynthetic process (GO:0006024)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)	endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	acetylglucosaminyltransferase activity (GO:0008375)|protein xylosyltransferase activity (GO:0030158)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						AACATGCGCTGCAACTGCCGA	0.582																																						ENST00000261381.6																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						c.(1027-1029)Cag>Tag		xylosyltransferase I							219	184	196					16																	17294398		2197	4300	6497	SO:0001587	stop_gained	64131				glycosaminoglycan biosynthetic process	endoplasmic reticulum membrane|extracellular region|Golgi membrane|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity	g.chr16:17294398G>A	AJ277441	CCDS10569.1	16p12	2013-02-25			ENSG00000103489	ENSG00000103489	2.4.2.26	"Glucosaminyl (N-acetyl) transferase and xylosyltransferase family"	15516	protein-coding gene	gene with protein product	"protein xylosyltransferase 1"	608124				11099377	Standard	NM_022166		Approved	XT-I, PXYLT1	uc002dfa.3	Q86Y38	OTTHUMG00000129975	ENST00000261381.6:c.1027C>T	16.37:g.17294398G>A	ENSP00000261381:p.Gln343*						p.Q343*	NM_022166.3	NP_071449.1	Q86Y38	XYLT1_HUMAN			4	1111	-			343					Q9H1B6	Nonsense_Mutation	SNP	ENST00000261381.6	37	c.1027C>T	CCDS10569.1	.	.	.	.	.	.	.	.	.	.	G	38	6.652241	0.97734	.	.	ENSG00000103489	ENST00000261381	.	.	.	5.03	5.03	0.67393	.	0.106709	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-31.8328	17.3742	0.87387	0.0:0.0:1.0:0.0	.	.	.	.	X	343	.	ENSP00000261381:Q343X	Q	-	1	0	XYLT1	17201899	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.313000	0.65798	2.343000	0.79666	0.655000	0.94253	CAG		0.582	XYLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252241.2	NM_022166		13	170	0	0	0	1	0	13	170					A	17294398	G	A	17294398	4	1	232	1	0	0	0	0	0	1	0	0	17460	1328	46	3	1888	3	XYLT1	16	17294398	Nonsense_Mutation	SNP	G	TCGA-HC-8259-01A-11D-2260-08		17294398	73060355	60	10826											
CNTNAP4	85445	broad.mit.edu	37	chr16	76573710	76573710	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgatggacaacttcaccaCataatgattaacagagaaga	17	8	8	8	0	1	4	1	2	0	2	1	6	1	5	1	1	2	1	1	1	4	3			TCGA-HC-8259-01A-11D-2260-08	TCGA-HC-8259-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a3672a-baa0-4d94-aad4-c88dfc3d357f	a537ec83-4cbe-4ddc-9116-39468c6bd4bb	g.chr16:76573710C>T	ENST00000476707.1	+	19	3463	c.3324C>T	c.(3322-3324)caC>caT	p.H1108H	CNTNAP4_ENST00000377504.4_Silent_p.H1056H|CNTNAP4_ENST00000307431.8_Silent_p.H1104H|CNTNAP4_ENST00000469589.1_3'UTR|CNTNAP4_ENST00000478060.1_Silent_p.H1032H			Q9C0A0	CNTP4_HUMAN	contactin associated protein-like 4	1105	Laminin G-like 4. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell adhesion (GO:0007155)|regulation of grooming behavior (GO:2000821)|regulation of synaptic transmission, dopaminergic (GO:0032225)|regulation of synaptic transmission, GABAergic (GO:0032228)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|presynaptic membrane (GO:0042734)				breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						AACTTCACCACATAATGATTA	0.353																																						ENST00000307431.8																			0				breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						c.(3310-3312)caC>caT		contactin associated protein-like 4							97	100	99					16																	76573710		2078	4268	6346	SO:0001819	synonymous_variant	85445				cell adhesion|signal transduction	integral to membrane	receptor binding	g.chr16:76573710C>T	AB051550	CCDS10924.1, CCDS10924.2, CCDS73915.1	16q23.1	2008-02-05			ENSG00000152910	ENSG00000152910			18747	protein-coding gene	gene with protein product		610518				12093160	Standard	NM_033401		Approved	CASPR4, KIAA1763	uc010chb.1	Q9C0A0	OTTHUMG00000137617	ENST00000476707.1:c.3324C>T	16.37:g.76573710C>T						CNTNAP4_ENST00000469589.1_3'UTR|CNTNAP4_ENST00000377504.4_Silent_p.H1056H|CNTNAP4_ENST00000476707.1_Silent_p.H1108H|CNTNAP4_ENST00000478060.1_Silent_p.H1032H	p.H1104H	NM_033401.3	NP_207837.2	Q9C0A0	CNTP4_HUMAN			21	3697	+			1105			Laminin G-like 4.		E9PFZ6|Q86YZ7	Silent	SNP	ENST00000476707.1	37	c.3312C>T																																																																																					0.353	CNTNAP4-005	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000348216.1	NM_033401		5	82	0	0	0	1	0	5	82					T	76573710	C	T	76573710	2	4	232	1	0	0	0	0	0	0	0	1	3649	477	17	3		3	CNTNAP4	16	76573710	Silent	SNP	C	TCGA-HC-8259-01A-11D-2260-08	59279312	76573710	13781043	61	10827											
ZC3H18	124245	broad.mit.edu	37	chr16	88694459	88694459	+	Frame_Shift_Del	DEL	C	C	-																															cctcgacaccccagcaggcaCcccccgggcagccccagcag																										TCGA-HC-8259-01A-11D-2260-08	TCGA-HC-8259-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a3672a-baa0-4d94-aad4-c88dfc3d357f	a537ec83-4cbe-4ddc-9116-39468c6bd4bb	g.chr16:88694459delC	ENST00000301011.5	+	15	2601	c.2401delC	c.(2401-2403)cccfs	p.P802fs	ZC3H18_ENST00000452588.2_Frame_Shift_Del_p.P826fs	NM_144604.3	NP_653205.3	Q86VM9	ZCH18_HUMAN	zinc finger CCCH-type containing 18	802						nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.Q804fs*15(1)		endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(9)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	42				BRCA - Breast invasive adenocarcinoma(80;0.0542)		CCAGCAGGCACCCCCCGGGCA	0.612																																					Ovarian(121;375 2276 20373 38669)	ENST00000301011.5																			1	Deletion - Frameshift(1)	p.Q804fs*15(1)	large_intestine(1)	endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(9)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	42						c.(2401-2403)ccfs		zinc finger CCCH-type containing 18							59	77	70					16																	88694459		2198	4300	6498	SO:0001589	frameshift_variant	124245					nucleus	nucleic acid binding|zinc ion binding	g.chr16:88694459delC	BC001584	CCDS10967.1, CCDS73924.1	16q24.2-q24.3	2012-07-05			ENSG00000158545	ENSG00000158545		"Zinc fingers, CCCH-type domain containing"	25091	protein-coding gene	gene with protein product						17579712	Standard	NM_144604		Approved	NHN1	uc002fky.3	Q86VM9	OTTHUMG00000137679	ENST00000301011.5:c.2401delC	16.37:g.88694459delC	ENSP00000301011:p.Pro802fs					ZC3H18_ENST00000452588.2_Frame_Shift_Del_p.P826fs	p.P802fs	NM_144604.3	NP_653205.3	Q86VM9	ZCH18_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0542)	15	2601	+			802					Q96DG4|Q96MP7	Frame_Shift_Del	DEL	ENST00000301011.5	37	c.2401delC	CCDS10967.1																																																																																				0.612	ZC3H18-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000269168.1	NM_144604		7	285						7	285	---	---	---	---	-	88694459	C	-	88694459	7	5	232	1	0	1	0	1	0	0	0	0	17565	507	18	0	2455	0	ZC3H18	16	88694459	Frame_Shift_Del	DEL	C	TCGA-HC-8259-01A-11D-2260-08	12120749	88694459	1660294	62	10828											
ANKRD11	29123	broad.mit.edu	37	chr16	89352043	89352043	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	tgcgaaggatggtgcgtcttCctcttctgagctctctgttg	4	15	12	10	2	4	1	0	1	4	0	6	3	5	2	1	2	3	2	1	2	1	3			TCGA-HC-8259-01A-11D-2260-08	TCGA-HC-8259-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a3672a-baa0-4d94-aad4-c88dfc3d357f	a537ec83-4cbe-4ddc-9116-39468c6bd4bb	g.chr16:89352043C>G	ENST00000301030.4	-	9	1367	c.907G>C	c.(907-909)Gaa>Caa	p.E303Q	ANKRD11_ENST00000378330.2_Missense_Mutation_p.E303Q	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	303					bone development (GO:0060348)|face morphogenesis (GO:0060325)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|odontogenesis of dentin-containing tooth (GO:0042475)|skeletal system morphogenesis (GO:0048705)|tissue homeostasis (GO:0001894)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		GGTGCGTCTTCCTCTTCTGAG	0.567																																						ENST00000301030.4																			0				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83						c.(907-909)Gaa>Caa		ankyrin repeat domain 11							135	109	118					16																	89352043		2198	4300	6498	SO:0001583	missense	29123					nucleus		g.chr16:89352043C>G	AY373756	CCDS32513.1	16q24.3	2013-01-10				ENSG00000167522		"Ankyrin repeat domain containing"	21316	protein-coding gene	gene with protein product		611192				11483580	Standard	NM_001256182		Approved	LZ16, T13	uc002fnc.2	Q6UB99		ENST00000301030.4:c.907G>C	16.37:g.89352043C>G	ENSP00000301030:p.Glu303Gln					ANKRD11_ENST00000378330.2_Missense_Mutation_p.E303Q	p.E303Q	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)	9	1367	-		all_hematologic(23;0.00824)|Colorectal(91;0.0475)	303					Q6NTG1|Q6QMF8	Missense_Mutation	SNP	ENST00000301030.4	37	c.907G>C	CCDS32513.1	.	.	.	.	.	.	.	.	.	.	C	16.97	3.269621	0.59540	.	.	ENSG00000167522	ENST00000301030;ENST00000378330;ENST00000378332	T;T	0.44881	0.91;0.91	5.54	5.54	0.83059	.	0.055149	0.64402	D	0.000001	T	0.66005	0.2746	M	0.69823	2.125	0.80722	D	1	D	0.64830	0.994	D	0.72338	0.977	T	0.67991	-0.5527	10	0.72032	D	0.01	.	19.4699	0.94959	0.0:1.0:0.0:0.0	.	303	Q6UB99	ANR11_HUMAN	Q	303;303;317	ENSP00000301030:E303Q;ENSP00000367581:E303Q	ENSP00000301030:E303Q	E	-	1	0	ANKRD11	87879544	1.000000	0.71417	0.986000	0.45419	0.118000	0.20060	7.622000	0.83099	2.602000	0.87976	0.563000	0.77884	GAA		0.567	ANKRD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430462.3	NM_013275		4	53	0	0	0	1	0	4	53					G	89352043	C	G	89352043	3	3	232	1	0	0	0	0	1	0	0	0	639	864	30	5	7104	5	ANKRD11	16	89352043	Missense_Mutation	SNP	C	TCGA-HC-8259-01A-11D-2260-08	657584	89352043	1002710	63	10829											
SEZ6	124925	broad.mit.edu	37	chr17	27286418	27286418	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccagatacaatcctgcccaCgaccgtagggctctggccag	9	6	10	16	2	1	1	0	0	1	1	2	2	2	1	5	2	2	2	5	2	3	2	rs371753097		TCGA-HC-8259-01A-11D-2260-08	TCGA-HC-8259-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a3672a-baa0-4d94-aad4-c88dfc3d357f	a537ec83-4cbe-4ddc-9116-39468c6bd4bb	g.chr17:27286418C>T	ENST00000317338.12	-	9	2272	c.1844G>A	c.(1843-1845)cGt>cAt	p.R615H	SEZ6_ENST00000442608.3_Missense_Mutation_p.R615H|SEZ6_ENST00000335960.6_Intron|SEZ6_ENST00000360295.9_Missense_Mutation_p.R615H|PIPOX_ENST00000583215.1_Intron			Q53EL9	SEZ6_HUMAN	seizure related 6 homolog (mouse)	615	CUB 2. {ECO:0000255|PROSITE- ProRule:PRU00059}.				adult locomotory behavior (GO:0008344)|cerebellar Purkinje cell layer development (GO:0021680)|negative regulation of dendrite development (GO:2000171)|positive regulation of dendrite development (GO:1900006)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of protein kinase C signaling (GO:0090036)|synapse maturation (GO:0060074)	apical dendrite (GO:0097440)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(4)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	29	Lung NSC(42;0.0137)		Epithelial(11;4.73e-06)|all cancers(11;2.91e-05)|BRCA - Breast invasive adenocarcinoma(11;8.06e-05)|OV - Ovarian serous cystadenocarcinoma(11;0.111)			ATCCTGCCCACGACCGTAGGG	0.622													C|||	1	0.000199681	0	0	5008	,	,		17609	0.001		0	False		,,,				2504	0					ENST00000317338.12																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(4)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	29						c.(1843-1845)cGt>cAt		seizure related 6 homolog (mouse)		C	HIS/ARG,HIS/ARG	0,4264		0,0,2132	80	86	84		1844,1844	4.1	1	17		84	1,8493		0,1,4246	no	missense,missense	SEZ6	NM_001098635.1,NM_178860.4	29,29	0,1,6378	TT,TC,CC		0.0118,0.0,0.0078	probably-damaging,probably-damaging	615/994,615/995	27286418	1,12757	2132	4247	6379	SO:0001583	missense	124925					integral to membrane|plasma membrane		g.chr17:27286418C>T	AY038048	CCDS45638.1, CCDS45639.1	17q11.2	2008-03-06	2001-11-28		ENSG00000063015	ENSG00000063015			15955	protein-coding gene	gene with protein product			"seizure related gene 6 (mouse) homolog"			17086543	Standard	NM_178860		Approved		uc002hdp.2	Q53EL9	OTTHUMG00000168010	ENST00000317338.12:c.1844G>A	17.37:g.27286418C>T	ENSP00000312942:p.Arg615His					PIPOX_ENST00000583215.1_Intron|SEZ6_ENST00000335960.6_Intron|SEZ6_ENST00000360295.9_Missense_Mutation_p.R615H|SEZ6_ENST00000442608.3_Missense_Mutation_p.R615H	p.R615H			Q53EL9	SEZ6_HUMAN	Epithelial(11;4.73e-06)|all cancers(11;2.91e-05)|BRCA - Breast invasive adenocarcinoma(11;8.06e-05)|OV - Ovarian serous cystadenocarcinoma(11;0.111)		9	2272	-	Lung NSC(42;0.0137)		615			CUB 2.		B6ZDN1|Q8N701|Q8NB57|Q8ND50|Q8TD25|Q96NI5|Q96NQ3	Missense_Mutation	SNP	ENST00000317338.12	37	c.1844G>A	CCDS45639.1	.	.	.	.	.	.	.	.	.	.	C	17.13	3.309544	0.60414	0.0	1.18E-4	ENSG00000063015	ENST00000442608;ENST00000360295;ENST00000317338;ENST00000541381	T;T	0.34275	1.37;1.37	5.25	4.07	0.47477	CUB (5);	0.272209	0.30401	N	0.009710	T	0.24624	0.0597	N	0.11284	0.12	0.80722	D	1	D;P	0.69078	0.997;0.587	P;B	0.51582	0.674;0.182	T	0.01566	-1.1323	10	0.48119	T	0.1	.	5.4971	0.16809	0.0:0.7639:0.0:0.2361	.	615;615	Q53EL9-3;Q53EL9	.;SEZ6_HUMAN	H	615;615;490;615	ENSP00000403784:R615H;ENSP00000353440:R615H	ENSP00000312942:R490H	R	-	2	0	SEZ6	24310544	1.000000	0.71417	0.998000	0.56505	0.219000	0.24729	4.144000	0.58057	2.611000	0.88343	0.655000	0.94253	CGT		0.622	SEZ6-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397475.3			4	76	0	0	0	1	0	4	76					T	27286418	C	T	27286418	3	4	232	1	0	0	0	0	1	0	0	0	14142	536	19	1	1189	1	SEZ6	17	27286418	Missense_Mutation	SNP	C	TCGA-HC-8259-01A-11D-2260-08		27286418	53908792	64	10830											
GGNBP2	79893	broad.mit.edu	37	chr17	34945807	34945807	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgatcacaagaggcccatttGtagtggctggttgacaacgg	10	10	13	8	1	1	3	1	2	0	1	1	3	1	3	1	4	1	3	1	4	3	3			TCGA-HC-8259-01A-11D-2260-08	TCGA-HC-8259-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a3672a-baa0-4d94-aad4-c88dfc3d357f	a537ec83-4cbe-4ddc-9116-39468c6bd4bb	g.chr17:34945807G>A	ENST00000304718.4	+	14	2376	c.2060G>A	c.(2059-2061)tGt>tAt	p.C687Y	DHRS11_ENST00000251312.5_5'Flank|DHRS11_ENST00000590554.1_5'Flank	NM_024835.3	NP_079111.1	Q9H3C7	GGNB2_HUMAN	gametogenetin binding protein 2	687					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasmic vesicle (GO:0031410)|nucleus (GO:0005634)				breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(1)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(1)	38		Breast(25;0.00957)|Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0193)		AGGCCCATTTGTAGTGGCTGG	0.388																																						ENST00000304718.4																			0				breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(1)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(1)	38						c.(2059-2061)tGt>tAt		gametogenetin binding protein 2							85	94	91					17																	34945807		2203	4300	6503	SO:0001583	missense	79893				cell differentiation|multicellular organismal development|spermatogenesis	cytoplasmic membrane-bounded vesicle		g.chr17:34945807G>A	AF126964	CCDS11314.1	17q21.1	2014-05-06	2007-08-20	2007-08-20	ENSG00000005955	ENSG00000278311			19357	protein-coding gene	gene with protein product		612275	"zinc finger protein 403"	ZNF403		11728448	Standard	NM_024835		Approved	ZFP403, LZK1, FLJ22561, FLJ21230, DIF-3, DIF3	uc002hnb.3	Q9H3C7	OTTHUMG00000188440	ENST00000304718.4:c.2060G>A	17.37:g.34945807G>A	ENSP00000307617:p.Cys687Tyr						p.C687Y	NM_024835.3	NP_079111.1	Q9H3C7	GGNB2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0193)	14	2376	+		Breast(25;0.00957)|Ovarian(249;0.17)	687					B2RPK7|Q96T90|Q9GZR8|Q9H767	Missense_Mutation	SNP	ENST00000304718.4	37	c.2060G>A	CCDS11314.1	.	.	.	.	.	.	.	.	.	.	G	19.68	3.872830	0.72180	.	.	ENSG00000005955	ENST00000304718	.	.	.	5.85	5.85	0.93711	.	0.213748	0.50627	D	0.000105	T	0.56232	0.1971	N	0.08118	0	0.80722	D	1	D	0.58620	0.983	P	0.56700	0.804	T	0.65479	-0.6158	9	0.87932	D	0	-8.8415	20.1775	0.98187	0.0:0.0:1.0:0.0	.	687	Q9H3C7	GGNB2_HUMAN	Y	687	.	ENSP00000307617:C687Y	C	+	2	0	GGNBP2	32019920	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.819000	0.91997	2.771000	0.95319	0.561000	0.74099	TGT		0.388	GGNBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256684.2	NM_024835		56	70	0	0	0	1	0	56	70					A	34945807	G	A	34945807	3	1	232	1	0	0	0	0	1	0	0	0	6359	1377	48	3	2110	3	GGNBP2	17	34945807	Missense_Mutation	SNP	G	TCGA-HC-8259-01A-11D-2260-08	7659389	34945807	46249403	65	10831											
KIAA0802	23255	broad.mit.edu	37	chr18	8824836	8824836	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cagacgacctcaagtacatcGaggagttcaacaagagctgg	14	6	11	10	2	2	2	2	0	0	2	3	5	2	3	1	2	3	3	1	2	4	2			TCGA-HC-8259-01A-11D-2260-08	TCGA-HC-8259-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a3672a-baa0-4d94-aad4-c88dfc3d357f	a537ec83-4cbe-4ddc-9116-39468c6bd4bb	g.chr18:8824836G>A	ENST00000306329.11	+	13	4285	c.4285G>A	c.(4285-4287)Gag>Aag	p.E1429K	SOGA2_ENST00000400050.3_Missense_Mutation_p.E1069K|SOGA2_ENST00000518815.1_Missense_Mutation_p.E435K|SOGA2_ENST00000517570.1_Missense_Mutation_p.E1069K|SOGA2_ENST00000359865.3_Missense_Mutation_p.E1110K|SOGA2_ENST00000306285.7_Missense_Mutation_p.E435K																							CAAGTACATCGAGGAGTTCAA	0.632																																						ENST00000359865.3																			0											c.(3328-3330)Gag>Aag		SOGA family member 2							72	67	69					18																	8824836		2203	4300	6503	SO:0001583	missense	23255							g.chr18:8824836G>A																												ENST00000306329.11:c.4285G>A	18.37:g.8824836G>A	ENSP00000305027:p.Glu1429Lys					SOGA2_ENST00000400050.3_Missense_Mutation_p.E1069K|SOGA2_ENST00000306285.7_Missense_Mutation_p.E435K|SOGA2_ENST00000306329.11_Missense_Mutation_p.E1429K|SOGA2_ENST00000517570.1_Missense_Mutation_p.E1069K|SOGA2_ENST00000518815.1_Missense_Mutation_p.E435K	p.E1110K	NM_015210.3	NP_056025.2	Q9Y4B5	CC165_HUMAN			15	3470	+			1420						Missense_Mutation	SNP	ENST00000306329.11	37	c.3328G>A		.	.	.	.	.	.	.	.	.	.	G	29.5	5.009157	0.93346	.	.	ENSG00000168502	ENST00000306329;ENST00000517570;ENST00000359865;ENST00000400050;ENST00000306285	T;T;T;T	0.26223	1.75;1.75;1.75;1.75	5.2	5.2	0.72013	.	0.000000	0.48286	D	0.000195	T	0.51534	0.1680	M	0.65498	2.005	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.91635	0.986;0.999	T	0.51252	-0.8729	10	0.52906	T	0.07	-28.8502	18.7498	0.91809	0.0:0.0:1.0:0.0	.	1420;1110	Q9Y4B5;Q9Y4B5-3	CC165_HUMAN;.	K	1131;1069;1110;1069;435	ENSP00000429556:E1069K;ENSP00000352927:E1110K;ENSP00000382924:E1069K;ENSP00000303670:E435K	ENSP00000303670:E435K	E	+	1	0	CCDC165	8814836	1.000000	0.71417	0.960000	0.40013	0.969000	0.65631	9.624000	0.98398	2.406000	0.81754	0.650000	0.86243	GAG		0.632	SOGA2-015	PUTATIVE	basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000444141.1			10	96	0	0	0	1	0	10	96					A	8824836	G	A	8824836	3	1	232	1	0	0	0	0	1	0	0	0	8194	1059	37	2	3378	2	KIAA0802	18	8824836	Missense_Mutation	SNP	G	TCGA-HC-8259-01A-11D-2260-08		8824836	69252412	66	10832											
TXNL1	9352	broad.mit.edu	37	chr18	54291518	54291518	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttcacttttcagtctacataCatagccttttggaatatctg	10	17	5	9	0	4	0	2	0	2	0	4	1	4	1	1	1	3	0	1	1	5	9			TCGA-HC-8259-01A-11D-2260-08	TCGA-HC-8259-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a3672a-baa0-4d94-aad4-c88dfc3d357f	a537ec83-4cbe-4ddc-9116-39468c6bd4bb	g.chr18:54291518C>A	ENST00000217515.6	-	3	574		c.e3+1		TXNL1_ENST00000590954.1_Splice_Site|TXNL1_ENST00000540155.1_Splice_Site	NM_004786.2	NP_004777.1	O43396	TXNL1_HUMAN	thioredoxin-like 1						cell redox homeostasis (GO:0045454)|glycerol ether metabolic process (GO:0006662)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|proteasome complex (GO:0000502)	disulfide oxidoreductase activity (GO:0015036)|protein disulfide oxidoreductase activity (GO:0015035)			endometrium(1)|large_intestine(1)|lung(1)|urinary_tract(1)	4				READ - Rectum adenocarcinoma(59;0.193)|Colorectal(16;0.211)		AGTCTACATACATAGCCTTTT	0.338																																						ENST00000217515.6																			0				endometrium(1)|large_intestine(1)|lung(1)|urinary_tract(1)	4						c.e3+1		thioredoxin-like 1							146	145	146					18																	54291518		2203	4299	6502	SO:0001630	splice_region_variant	9352				cell redox homeostasis|electron transport chain|glycerol ether metabolic process|transport	cytoplasm	electron carrier activity|protein disulfide oxidoreductase activity	g.chr18:54291518C>A	AF003938	CCDS11961.1	18q21.31	2011-01-17	2004-05-06	2004-05-07	ENSG00000091164	ENSG00000091164			12436	protein-coding gene	gene with protein product	"thioredoxin-like, 32kD"	603049	"thioredoxin-like, 32kDa"	TXNL		9473519, 9668102	Standard	NM_004786		Approved	Txl, TRP32	uc002lgg.3	O43396	OTTHUMG00000132722	ENST00000217515.6:c.369+1G>T	18.37:g.54291518C>A						TXNL1_ENST00000540155.1_Splice_Site|TXNL1_ENST00000590954.1_Splice_Site		NM_004786.2	NP_004777.1	O43396	TXNL1_HUMAN		READ - Rectum adenocarcinoma(59;0.193)|Colorectal(16;0.211)	3	574	-									Splice_Site	SNP	ENST00000217515.6	37		CCDS11961.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.158573	0.78226	.	.	ENSG00000091164	ENST00000217515	.	.	.	5.67	5.67	0.87782	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.7221	0.96147	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TXNL1	52442516	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.425000	0.80255	2.834000	0.97654	0.650000	0.86243	.		0.338	TXNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256064.2		Intron	4	114	1	0	0.000602214	1	0.000638492	4	114					A	54291518	C	A	54291518	5	1	232	1	0	0	0	0	0	0	1	0	16801	492	17	5	523	5	TXNL1	18	54291518	Splice_Site	SNP	C	TCGA-HC-8259-01A-11D-2260-08	45466682	54291518	23785730	67	10833											
SERPINB2	5055	broad.mit.edu	37	chr18	61570299	61570299	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggacgccttcaacaagggAcgggccaatttctcagggat	11	7	13	10	2	2	0	2	0	1	0	3	4	2	3	2	4	1	0	2	4	3	2			TCGA-HC-8259-01A-11D-2260-08	TCGA-HC-8259-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a3672a-baa0-4d94-aad4-c88dfc3d357f	a537ec83-4cbe-4ddc-9116-39468c6bd4bb	g.chr18:61570299A>T	ENST00000299502.4	+	8	1088	c.1008A>T	c.(1006-1008)ggA>ggT	p.G336G	SERPINB2_ENST00000457692.1_Silent_p.G336G	NM_002575.2	NP_002566.1	P05120	PAI2_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 2	336					blood coagulation (GO:0007596)|fibrinolysis (GO:0042730)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	serine-type endopeptidase inhibitor activity (GO:0004867)			NS(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|liver(1)|lung(12)|prostate(2)|skin(2)|stomach(1)	32		Esophageal squamous(42;0.131)			Tenecteplase(DB00031)|Urokinase(DB00013)	TCAACAAGGGACGGGCCAATT	0.478																																						ENST00000457692.1																			0				NS(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|liver(1)|lung(12)|prostate(2)|skin(2)|stomach(1)	32						c.(1006-1008)ggA>ggT		serpin peptidase inhibitor, clade B (ovalbumin), member 2	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)|Urokinase(DB00013)						133	109	117					18																	61570299		2203	4300	6503	SO:0001819	synonymous_variant	5055				anti-apoptosis|blood coagulation|fibrinolysis|regulation of proteolysis	extracellular space|Golgi apparatus|plasma membrane	serine-type endopeptidase inhibitor activity	g.chr18:61570299A>T	Y00630	CCDS11989.1	18q21.3	2014-02-18	2005-08-18		ENSG00000197632	ENSG00000197632		"Serine (or cysteine) peptidase inhibitors"	8584	protein-coding gene	gene with protein product		173390	"serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 2"	PLANH2, PAI2		24172014	Standard	NM_002575		Approved	HsT1201	uc002ljo.3	P05120	OTTHUMG00000060592	ENST00000299502.4:c.1008A>T	18.37:g.61570299A>T						SERPINB2_ENST00000299502.4_Silent_p.G336G	p.G336G	NM_001143818.1	NP_001137290.1	P05120	PAI2_HUMAN			9	1341	+		Esophageal squamous(42;0.131)	336					Q96E96	Silent	SNP	ENST00000299502.4	37	c.1008A>T	CCDS11989.1																																																																																				0.478	SERPINB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000134009.1	NM_002575		4	70	0	0	0	1	0	4	70					T	61570299	A	T	61570299	2	4	232	1	0	0	0	0	0	0	0	1	14101	262	10	5		5	SERPINB2	18	61570299	Silent	SNP	A	TCGA-HC-8259-01A-11D-2260-08	7278781	61570299	16506949	68	10834											
CNDP1	84735	broad.mit.edu	37	chr18	72223614	72223614	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgctgctgctgctggagcgCggcatgttctcctcaccctc	3	11	11	16	2	2	0	1	0	1	0	4	1	2	1	2	2	5	6	2	2	0	1	rs374404266	byFrequency	TCGA-HC-8259-01A-11D-2260-08	TCGA-HC-8259-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a3672a-baa0-4d94-aad4-c88dfc3d357f	a537ec83-4cbe-4ddc-9116-39468c6bd4bb	g.chr18:72223614C>T	ENST00000358821.3	+	2	294	c.66C>T	c.(64-66)cgC>cgT	p.R22R	CNDP1_ENST00000585136.1_3'UTR|CNDP1_ENST00000582365.1_Intron	NM_032649.5	NP_116038	Q96KN2	CNDP1_HUMAN	carnosine dipeptidase 1 (metallopeptidase M20 family)	22						extracellular region (GO:0005576)	carboxypeptidase activity (GO:0004180)|dipeptidase activity (GO:0016805)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|tripeptidase activity (GO:0034701)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27		Esophageal squamous(42;0.129)|Prostate(75;0.157)|Melanoma(33;0.211)		BRCA - Breast invasive adenocarcinoma(31;0.109)		TGCTGGAGCGCGGCATGTTCT	0.557													C|||	5	0.000998403	0	0	5008	,	,		16901	0.005		0	False		,,,				2504	0				Melanoma(32;1029 1042 25286 38395 44237)	ENST00000358821.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						c.(64-66)cgC>cgT		carnosine dipeptidase 1 (metallopeptidase M20 family)		C		0,4406		0,0,2203	67	64	65		66	-11.8	0	18		65	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	CNDP1	NM_032649.5		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		22/508	72223614	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	84735				proteolysis	extracellular region	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity|tripeptidase activity	g.chr18:72223614C>T		CCDS12007.1	18q22.3	2014-07-14			ENSG00000150656	ENSG00000150656	3.4.13.20		20675	protein-coding gene	gene with protein product	"carnosinase 1", "glutamate carboxypeptidase-like protein 2"	609064				12473676	Standard	NM_032649		Approved	MGC10825, CN1, CPGL2, HsT2308	uc002llq.3	Q96KN2	OTTHUMG00000132852	ENST00000358821.3:c.66C>T	18.37:g.72223614C>T						CNDP1_ENST00000585136.1_3'UTR|CNDP1_ENST00000582365.1_Intron	p.R22R	NM_032649.5	NP_116038.4	Q96KN2	CNDP1_HUMAN		BRCA - Breast invasive adenocarcinoma(31;0.109)	2	294	+		Esophageal squamous(42;0.129)|Prostate(75;0.157)|Melanoma(33;0.211)	22					Q14D40|Q17S05|Q2TBG0|Q6UWK2|Q9BT98	Silent	SNP	ENST00000358821.3	37	c.66C>T	CCDS12007.1																																																																																				0.557	CNDP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256326.1	NM_032649		5	106	0	0	0	1	0	5	106					T	72223614	C	T	72223614	2	4	232	1	0	0	0	0	0	0	0	1	3593	755	27	1		1	CNDP1	18	72223614	Silent	SNP	C	TCGA-HC-8259-01A-11D-2260-08	10653315	72223614	5853634	69	10835											
CHAF1A	10036	broad.mit.edu	37	chr19	4409410	4409410	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctcccaggaatgttcgccacGgagctgcccggagctgacga	8	6	13	14	4	0	1	0	1	0	0	2	5	1	4	3	3	3	3	3	3	1	1			TCGA-HC-8259-01A-11D-2260-08	TCGA-HC-8259-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a3672a-baa0-4d94-aad4-c88dfc3d357f	a537ec83-4cbe-4ddc-9116-39468c6bd4bb	g.chr19:4409410G>A	ENST00000301280.5	+	3	715	c.614G>A	c.(613-615)cGg>cAg	p.R205Q		NM_005483.2	NP_005474	Q13111	CAF1A_HUMAN	chromatin assembly factor 1, subunit A (p150)	205	Binds to CBX1 chromo shadow domain.				cell cycle (GO:0007049)|chromatin assembly (GO:0031497)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication-dependent nucleosome assembly (GO:0006335)|protein complex assembly (GO:0006461)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	CAF-1 complex (GO:0033186)|nuclear chromatin (GO:0000790)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|identical protein binding (GO:0042802)|unfolded protein binding (GO:0051082)			breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	27		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18)		TGTTCGCCACGGAGCTGCCCG	0.597								Chromatin Structure																														ENST00000301280.5																			0				breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	27						c.(613-615)cGg>cAg	Chromatin Structure	chromatin assembly factor 1, subunit A (p150)							75	78	77					19																	4409410		2203	4300	6503	SO:0001583	missense	10036				cell cycle|DNA repair|DNA replication|DNA replication-dependent nucleosome assembly|protein complex assembly|regulation of transcription, DNA-dependent|transcription, DNA-dependent	CAF-1 complex|WINAC complex	chromatin binding|chromo shadow domain binding|unfolded protein binding	g.chr19:4409410G>A	U20979	CCDS32875.1	19p13.3	2008-07-16				ENSG00000167670			1910	protein-coding gene	gene with protein product	"chromatin assembly factor I (150 kDa)"	601246				7600578	Standard	NM_005483		Approved	CAF1P150, CAF1B, CAF-1, CAF1, P150, MGC71229	uc002mal.3	Q13111		ENST00000301280.5:c.614G>A	19.37:g.4409410G>A	ENSP00000301280:p.Arg205Gln						p.R205Q	NM_005483.2	NP_005474.2	Q13111	CAF1A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18)	3	715	+		Hepatocellular(1079;0.137)	205			Binds to CBX1 chromo shadow domain.		Q6NXG5|Q7Z7K3|Q9UJY8	Missense_Mutation	SNP	ENST00000301280.5	37	c.614G>A	CCDS32875.1	.	.	.	.	.	.	.	.	.	.	G	3.670	-0.067702	0.07273	.	.	ENSG00000167670	ENST00000344143;ENST00000535117;ENST00000301280	T	0.47177	0.85	5.54	-2.61	0.06171	.	.	.	.	.	T	0.11196	0.0273	N	0.00289	-1.7	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.20706	-1.0267	9	0.87932	D	0	0.0729	0.3625	0.00366	0.3373:0.1375:0.2581:0.267	.	205	Q13111	CAF1A_HUMAN	Q	205	ENSP00000301280:R205Q	ENSP00000301280:R205Q	R	+	2	0	CHAF1A	4360410	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-0.053000	0.11846	-1.002000	0.03429	-1.149000	0.01842	CGG		0.597	CHAF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458310.2	NM_005483		31	30	0	0	0	1	0	31	30					A	4409410	G	A	4409410	3	1	232	1	0	0	0	0	1	0	0	0	3311	1116	39	2	624	2	CHAF1A	19	4409410	Missense_Mutation	SNP	G	TCGA-HC-8259-01A-11D-2260-08		4409410	54719573	70	10836											
NWD1	284434	broad.mit.edu	37	chr19	16872810	16872810	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acagctggtcgaggtggtccGtgagcgctacctgtcaggat	7	9	15	10	3	1	1	1	1	0	0	3	3	2	2	2	4	3	2	2	4	1	1			TCGA-HC-8259-01A-11D-2260-08	TCGA-HC-8259-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a3672a-baa0-4d94-aad4-c88dfc3d357f	a537ec83-4cbe-4ddc-9116-39468c6bd4bb	g.chr19:16872810G>A	ENST00000552788.1	+	6	1994	c.1994G>A	c.(1993-1995)cGt>cAt	p.R665H	NWD1_ENST00000549814.1_Missense_Mutation_p.R665H|NWD1_ENST00000523826.1_Missense_Mutation_p.R459H|NWD1_ENST00000339803.6_Missense_Mutation_p.R530H|NWD1_ENST00000379808.3_Missense_Mutation_p.R665H|NWD1_ENST00000524140.2_Missense_Mutation_p.R665H			Q149M9	NWD1_HUMAN	NACHT and WD repeat domain containing 1	665							ATP binding (GO:0005524)			NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						GAGGTGGTCCGTGAGCGCTAC	0.572																																						ENST00000524140.2																			0				NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						c.(1993-1995)cGt>cAt		NACHT and WD repeat domain containing 1							98	75	83					19																	16872810		2203	4300	6503	SO:0001583	missense	284434						ATP binding	g.chr19:16872810G>A	BX648940	CCDS32945.1, CCDS32945.2	19p13.11	2013-01-09				ENSG00000188039		"WD repeat domain containing"	27619	protein-coding gene	gene with protein product							Standard	NM_001007525		Approved		uc002neu.4	Q149M9		ENST00000552788.1:c.1994G>A	19.37:g.16872810G>A	ENSP00000447224:p.Arg665His					NWD1_ENST00000379808.3_Missense_Mutation_p.R665H|NWD1_ENST00000339803.6_Missense_Mutation_p.R530H|NWD1_ENST00000552788.1_Missense_Mutation_p.R665H|NWD1_ENST00000523826.1_Missense_Mutation_p.R459H|NWD1_ENST00000549814.1_Missense_Mutation_p.R665H	p.R665H	NM_001007525.3	NP_001007526.3	Q149M9	NWD1_HUMAN			8	2412	+			665					C9J021|Q68CT3	Missense_Mutation	SNP	ENST00000552788.1	37	c.1994G>A		.	.	.	.	.	.	.	.	.	.	G	9.868	1.198176	0.22037	.	.	ENSG00000188039	ENST00000420818;ENST00000524140;ENST00000549814;ENST00000379808;ENST00000523826;ENST00000552788;ENST00000339803	T;T;T;T;T;T	0.58797	0.32;0.37;0.32;0.31;0.38;0.37	4.35	-6.43	0.01926	.	1.979650	0.02178	N	0.060246	T	0.49813	0.1579	L	0.42686	1.345	0.09310	N	1	B;D;P	0.59767	0.0;0.986;0.947	B;P;B	0.46076	0.001;0.503;0.226	T	0.58042	-0.7706	10	0.44086	T	0.13	1.0874	7.7626	0.28961	0.6831:0.1416:0.1754:0.0	.	665;665;530	Q149M9;Q149M9-3;C9J2Y8	NWD1_HUMAN;.;.	H	530;665;665;665;459;665;530	ENSP00000428579:R665H;ENSP00000447548:R665H;ENSP00000369136:R665H;ENSP00000428955:R459H;ENSP00000447224:R665H;ENSP00000340159:R530H	ENSP00000340159:R530H	R	+	2	0	NWD1	16733810	0.000000	0.05858	0.000000	0.03702	0.312000	0.27988	-0.116000	0.10724	-0.957000	0.03627	-0.243000	0.11985	CGT		0.572	NWD1-005	NOVEL	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000403569.1	NM_001007525		22	34	0	0	0	1	0	22	34					A	16872810	G	A	16872810	3	1	232	1	0	0	0	0	1	0	0	0	10781	1145	40	1	1603	1	NWD1	19	16872810	Missense_Mutation	SNP	G	TCGA-HC-8259-01A-11D-2260-08	12463400	16872810	42256173	71	10837											
PBX4	80714	broad.mit.edu	37	chr19	19729418	19729418	+	Frame_Shift_Del	DEL	G	G	-																															ggggcggggggcgatggcgcGgggcgcggcggggcggccat																										TCGA-HC-8259-01A-11D-2260-08	TCGA-HC-8259-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a3672a-baa0-4d94-aad4-c88dfc3d357f	a537ec83-4cbe-4ddc-9116-39468c6bd4bb	g.chr19:19729418delG	ENST00000251203.9	-	1	307	c.21delC	c.(19-21)cccfs	p.P7fs		NM_025245.2	NP_079521.1	Q9BYU1	PBX4_HUMAN	pre-B-cell leukemia homeobox 4	7					positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)|XY body (GO:0001741)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			large_intestine(1)|lung(4)|ovary(1)|prostate(3)	9						gcgatggcgcggggcgcggcg	0.756																																						ENST00000251203.8																			0				large_intestine(1)|lung(4)|ovary(1)|prostate(3)	9						c.(19-21)ccfs		pre-B-cell leukemia homeobox 4							2	2	2					19																	19729418		1502	2827	4329	SO:0001589	frameshift_variant	80714						sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr19:19729418delG	AJ300182	CCDS12406.1	19p13.11	2014-09-11	2007-01-30		ENSG00000105717			"Homeoboxes / TALE class"	13403	protein-coding gene	gene with protein product		608127	"pre-B-cell leukemia transcription factor 4"				Standard	NM_025245		Approved		uc002nmy.3	Q9BYU1	OTTHUMG00000172310	ENST00000251203.9:c.21delC	19.37:g.19729418delG	ENSP00000251203:p.Pro7fs						p.P7fs	NM_025245.2	NP_079521.1	Q9BYU1	PBX4_HUMAN			1	307	-			7					A5D8Y0|B3KUK9	Frame_Shift_Del	DEL	ENST00000251203.9	37	c.21delC	CCDS12406.1																																																																																				0.756	PBX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417784.6			2	4						2	4	---	---	---	---	-	19729418	G	-	19729418	7	5	232	1	0	1	0	1	0	0	0	0	11495	1103	39	0	1135	0	PBX4	19	19729418	Frame_Shift_Del	DEL	G	TCGA-HC-8259-01A-11D-2260-08	2856608	19729418	39399565	72	10838											
KCNN4	3783	broad.mit.edu	37	chr19	44271798	44271798	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccgccagcgtgtcaatctgtTtctccagggcccggtgtgag	5	10	13	13	3	3	1	1	1	2	0	4	1	3	1	4	2	1	1	4	2	1	1			TCGA-HC-8259-01A-11D-2260-08	TCGA-HC-8259-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a3672a-baa0-4d94-aad4-c88dfc3d357f	a537ec83-4cbe-4ddc-9116-39468c6bd4bb	g.chr19:44271798T>G	ENST00000262888.3	-	8	1576	c.1181A>C	c.(1180-1182)aAa>aCa	p.K394T		NM_002250.2	NP_002241.1	O15554	KCNN4_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 4	394					calcium ion transport (GO:0006816)|cell volume homeostasis (GO:0006884)|defense response (GO:0006952)|immune system process (GO:0002376)|phospholipid translocation (GO:0045332)|positive regulation of protein secretion (GO:0050714)|positive regulation of T cell receptor signaling pathway (GO:0050862)|potassium ion export (GO:0071435)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|saliva secretion (GO:0046541)|stabilization of membrane potential (GO:0030322)|synaptic transmission (GO:0007268)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|membrane raft (GO:0045121)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	calcium-activated potassium channel activity (GO:0015269)|calmodulin binding (GO:0005516)|Intermediate conductance calcium-activated potassium channel activity (GO:0022894)|protein phosphatase binding (GO:0019903)			biliary_tract(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	15		Prostate(69;0.0352)			Clotrimazole(DB00257)|Enflurane(DB00228)|Halothane(DB01159)|Miconazole(DB01110)|Procaine(DB00721)|Quinine(DB00468)	GTCAATCTGTTTCTCCAGGGC	0.617																																						ENST00000262888.3																			0				biliary_tract(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	15						c.(1180-1182)aAa>aCa		potassium intermediate/small conductance calcium-activated channel, subfamily N, member 4	Clotrimazole(DB00257)|Halothane(DB01159)|Quinine(DB00468)						88	87	87					19																	44271798		2203	4300	6503	SO:0001583	missense	3783				defense response	voltage-gated potassium channel complex	calcium-activated potassium channel activity|calmodulin binding	g.chr19:44271798T>G	AF022797	CCDS12630.1	19q13.2	2012-07-05				ENSG00000104783		"Potassium channels", "Voltage-gated ion channels / Potassium channels, calcium-activated"	6293	protein-coding gene	gene with protein product		602754				9380751, 9407042, 16382103	Standard	NM_002250		Approved	KCa3.1, hSK4, hKCa4, hIKCa1	uc002oxl.3	O15554		ENST00000262888.3:c.1181A>C	19.37:g.44271798T>G	ENSP00000262888:p.Lys394Thr						p.K394T	NM_002250.2	NP_002241.1	O15554	KCNN4_HUMAN			8	1576	-		Prostate(69;0.0352)	394					Q53XR4	Missense_Mutation	SNP	ENST00000262888.3	37	c.1181A>C	CCDS12630.1	.	.	.	.	.	.	.	.	.	.	T	17.40	3.379191	0.61735	.	.	ENSG00000104783	ENST00000262888;ENST00000407385	D	0.99863	-7.27	3.87	3.87	0.44632	.	0.116625	0.56097	D	0.000033	D	0.99641	0.9868	M	0.72118	2.19	0.39727	D	0.971557	D;D	0.59357	0.985;0.979	P;P	0.55055	0.767;0.747	D	0.97368	0.9974	10	0.48119	T	0.1	-25.1459	11.2923	0.49258	0.0:0.0:0.0:1.0	.	288;394	D1MQ10;O15554	.;KCNN4_HUMAN	T	394;262	ENSP00000262888:K394T	ENSP00000262888:K394T	K	-	2	0	KCNN4	48963638	1.000000	0.71417	0.988000	0.46212	0.736000	0.42039	3.810000	0.55613	1.989000	0.58080	0.528000	0.53228	AAA		0.617	KCNN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463598.1	NM_002250		4	138	0	0	0	1	0	4	138					G	44271798	T	G	44271798	3	3	232	1	0	0	0	0	1	0	0	0	8081	1841	64	5	106	5	KCNN4	19	44271798	Missense_Mutation	SNP	T	TCGA-HC-8259-01A-11D-2260-08	24542380	44271798	14857185	73	10839											
MAVS	57506	broad.mit.edu	37	chr20	3843002	3843002	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacctggcagccctcagcccTctgacctccagcgggcatca	7	6	10	18	1	3	1	2	1	1	0	4	2	4	1	5	2	3	2	5	2	0	0			TCGA-HC-8259-01A-11D-2260-08	TCGA-HC-8259-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a3672a-baa0-4d94-aad4-c88dfc3d357f	a537ec83-4cbe-4ddc-9116-39468c6bd4bb	g.chr20:3843002T>C	ENST00000428216.2	+	5	695	c.567T>C	c.(565-567)ccT>ccC	p.P189P	MAVS_ENST00000358134.6_3'UTR|MAVS_ENST00000416600.2_Silent_p.P48P	NM_020746.4	NP_065797.2	Q7Z434	MAVS_HUMAN	mitochondrial antiviral signaling protein	189					activation of innate immune response (GO:0002218)|cellular response to exogenous dsRNA (GO:0071360)|defense response to bacterium (GO:0042742)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of type I interferon production (GO:0032480)|negative regulation of viral genome replication (GO:0045071)|positive regulation of chemokine (C-C motif) ligand 5 production (GO:0071651)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of IP-10 production (GO:0071660)|positive regulation of protein import into nucleus, translocation (GO:0033160)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription factor import into nucleus (GO:0042993)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340)|regulation of peroxisome organization (GO:1900063)|RIG-I signaling pathway (GO:0039529)|signal transduction (GO:0007165)|viral process (GO:0016032)	integral component of membrane (GO:0016021)|mitochondrial membrane (GO:0031966)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|peroxisomal membrane (GO:0005778)	CARD domain binding (GO:0050700)|protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)			autonomic_ganglia(1)|breast(3)|endometrium(1)|large_intestine(3)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	14						CCCTCAGCCCTCTGACCTCCA	0.587																																						ENST00000428216.2																			0				autonomic_ganglia(1)|breast(3)|endometrium(1)|large_intestine(3)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	14						c.(565-567)ccT>ccC		mitochondrial antiviral signaling protein							60	59	60					20																	3843002		2203	4300	6503	SO:0001819	synonymous_variant	57506				activation of innate immune response|cellular response to exogenous dsRNA|defense response to bacterium|innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|positive regulation of chemokine (C-C motif) ligand 5 production|positive regulation of defense response to virus by host|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interleukin-8 production|positive regulation of IP-10 production|positive regulation of protein import into nucleus, translocation|positive regulation of protein phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|positive regulation of type I interferon-mediated signaling pathway|response to virus	integral to membrane|mitochondrial outer membrane	CARD domain binding|protein kinase binding|signal transducer activity	g.chr20:3843002T>C	DQ174270	CCDS33437.1, CCDS56176.1	20p13	2009-04-02			ENSG00000088888	ENSG00000088888			29233	protein-coding gene	gene with protein product	"virus-induced signaling adaptor", "IFN-B promoter stimulator 1", "CARD adaptor inducing IFN-beta"	609676				16125763, 16153868	Standard	NM_020746		Approved	VISA, KIAA1271, IPS-1, Cardif	uc002wjw.4	Q7Z434	OTTHUMG00000031765	ENST00000428216.2:c.567T>C	20.37:g.3843002T>C						MAVS_ENST00000416600.2_Silent_p.P48P|MAVS_ENST00000358134.6_3'UTR	p.P189P	NM_020746.4	NP_065797.2	Q7Z434	MAVS_HUMAN			5	695	+			189					A8K6X0|B2BD33|B2BD34|F5H6C8|Q2HWT5|Q3I0Y2|Q5T7I6|Q86VY7|Q9H1H3|Q9H4Y1|Q9H8D3|Q9ULE9	Silent	SNP	ENST00000428216.2	37	c.567T>C	CCDS33437.1																																																																																				0.587	MAVS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077784.3	NM_020746		3	58	0	0	0	1	0	3	58					C	3843002	T	C	3843002	2	2	232	1	0	0	0	0	0	0	0	1	9338	1538	54	4		4	MAVS	20	3843002	Silent	SNP	T	TCGA-HC-8259-01A-11D-2260-08		3843002	59182518	74	10840											
EEF1A2	1917	broad.mit.edu	37	chr20	62120459	62120459	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgtgtggcagtcgatgaccGgggagtagccggcgctaatc	7	8	16	10	4	0	1	0	1	0	0	2	3	0	2	2	4	1	3	2	4	2	2			TCGA-HC-8259-01A-11D-2260-08	TCGA-HC-8259-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a3672a-baa0-4d94-aad4-c88dfc3d357f	a537ec83-4cbe-4ddc-9116-39468c6bd4bb	g.chr20:62120459G>A	ENST00000298049.7	-	6	1146	c.1076C>T	c.(1075-1077)cCg>cTg	p.P359L	EEF1A2_ENST00000217182.3_Missense_Mutation_p.P359L			Q05639	EF1A2_HUMAN	eukaryotic translation elongation factor 1 alpha 2	359					positive regulation of apoptotic process (GO:0043065)|response to inorganic substance (GO:0010035)	eukaryotic translation elongation factor 1 complex (GO:0005853)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|translation elongation factor activity (GO:0003746)|translation factor activity, nucleic acid binding (GO:0008135)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(14)|stomach(1)	20	all_cancers(38;9.45e-12)		BRCA - Breast invasive adenocarcinoma(10;1.22e-05)			GTCGATGACCGGGGAGTAGCC	0.642																																						ENST00000217182.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(14)|stomach(1)	20						c.(1075-1077)cCg>cTg		eukaryotic translation elongation factor 1 alpha 2							50	51	51					20																	62120459		2188	4283	6471	SO:0001583	missense	1917					nucleus	GTP binding|GTPase activity|protein binding|translation elongation factor activity	g.chr20:62120459G>A	AF163763	CCDS13522.1	20q13.3	2010-06-03			ENSG00000101210	ENSG00000101210			3192	protein-coding gene	gene with protein product		602959	"statin-like", "statin"	STNL, STN		8354261, 8812466	Standard	NM_001958		Approved	EEF1AL, HS1	uc002yfe.2	Q05639	OTTHUMG00000033076	ENST00000298049.7:c.1076C>T	20.37:g.62120459G>A	ENSP00000298049:p.Pro359Leu					EEF1A2_ENST00000298049.7_Missense_Mutation_p.P359L	p.P359L	NM_001958.3	NP_001949.1	Q05639	EF1A2_HUMAN	BRCA - Breast invasive adenocarcinoma(10;1.22e-05)		7	1241	-	all_cancers(38;9.45e-12)		359					B5BUF3|E1P5J1|P54266|Q0VGC7	Missense_Mutation	SNP	ENST00000298049.7	37	c.1076C>T	CCDS13522.1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.263890	0.80358	.	.	ENSG00000101210	ENST00000298049;ENST00000217182	T;T	0.48201	0.82;0.82	3.14	3.14	0.36123	Translation elongation factor EF1A/initiation factor IF2gamma, C-terminal (1);Translation elongation factor EFTu/EF1A, C-terminal (1);	0.070231	0.56097	N	0.000025	T	0.77498	0.4139	H	0.99273	4.495	0.80722	D	1	D	0.55385	0.971	P	0.56514	0.8	D	0.87845	0.2654	10	0.72032	D	0.01	-4.9946	14.5998	0.68432	0.0:0.0:1.0:0.0	.	359	Q05639	EF1A2_HUMAN	L	359	ENSP00000298049:P359L;ENSP00000217182:P359L	ENSP00000217182:P359L	P	-	2	0	EEF1A2	61590903	1.000000	0.71417	0.664000	0.29753	0.706000	0.40770	9.323000	0.96364	1.450000	0.47717	0.486000	0.48141	CCG		0.642	EEF1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080495.1	NM_001958		3	55	0	0	0	1	0	3	55					A	62120459	G	A	62120459	3	1	232	1	0	0	0	0	1	0	0	0	4924	1116	39	2	323	2	EEF1A2	20	62120459	Missense_Mutation	SNP	G	TCGA-HC-8259-01A-11D-2260-08	58277457	62120459	905061	75	10841											
RTEL1	51750	broad.mit.edu	37	chr20	62324212	62324212	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaagctcttcatggtggccGtgaagcaggagttgagccaa	10	8	13	10	1	2	2	1	2	1	0	2	3	2	3	3	3	3	3	3	3	3	2	rs143317975		TCGA-HC-8259-01A-11D-2260-08	TCGA-HC-8259-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a3672a-baa0-4d94-aad4-c88dfc3d357f	a537ec83-4cbe-4ddc-9116-39468c6bd4bb	g.chr20:62324212G>A	ENST00000360203.5	+	29	3032	c.2707G>A	c.(2707-2709)Gtg>Atg	p.V903M	RTEL1_ENST00000370003.1_Missense_Mutation_p.V148M|RTEL1-TNFRSF6B_ENST00000482936.1_Missense_Mutation_p.V903M|RTEL1_ENST00000318100.4_Missense_Mutation_p.V903M|RTEL1_ENST00000508582.2_Missense_Mutation_p.V927M|RTEL1_ENST00000370018.3_Missense_Mutation_p.V903M					regulator of telomere elongation helicase 1											NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_cancers(38;6.47e-12)|all_epithelial(29;3.75e-13)		Epithelial(9;1.25e-09)|all cancers(9;5.13e-09)|BRCA - Breast invasive adenocarcinoma(10;7.26e-05)|OV - Ovarian serous cystadenocarcinoma(5;0.00223)|Colorectal(105;0.107)			CATGGTGGCCGTGAAGCAGGA	0.642																																						ENST00000318100.4																			0				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						c.(2707-2709)Gtg>Atg		regulator of telomere elongation helicase 1		G	MET/VAL,MET/VAL	0,4392		0,0,2196	86	78	80		2707,2779	4.6	0.9	20	dbSNP_134	80	1,8581	1.2+/-3.3	0,1,4290	no	missense,missense	RTEL1	NM_016434.3,NM_032957.4	21,21	0,1,6486	AA,AG,GG		0.0117,0.0,0.0077	possibly-damaging,possibly-damaging	903/1220,927/1244	62324212	1,12973	2196	4291	6487	SO:0001583	missense	51750				DNA repair|regulation of double-strand break repair via homologous recombination|telomere maintenance	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding	g.chr20:62324212G>A	AB029011	CCDS13530.2, CCDS13531.1, CCDS13530.3, CCDS63331.1, CCDS74751.1	20q13.3	2012-06-27	2004-10-29	2004-10-29	ENSG00000258366	ENSG00000258366			15888	protein-coding gene	gene with protein product		608833	"chromosome 20 open reading frame 41"	C20orf41		10655513, 15210109	Standard	NM_016434		Approved	bK3184A7.3, NHL, DKFZP434C013, KIAA1088, RTEL	uc011abd.2	Q9NZ71	OTTHUMG00000032992	ENST00000360203.5:c.2707G>A	20.37:g.62324212G>A	ENSP00000353332:p.Val903Met					RTEL1_ENST00000370003.1_Missense_Mutation_p.V148M|RTEL1_ENST00000370018.3_Missense_Mutation_p.V903M|RTEL1_ENST00000360203.5_Missense_Mutation_p.V903M|RTEL1_ENST00000508582.2_Missense_Mutation_p.V927M|RTEL1-TNFRSF6B_ENST00000482936.1_Missense_Mutation_p.V903M	p.V903M			Q9NZ71	RTEL1_HUMAN	Epithelial(9;1.25e-09)|all cancers(9;5.13e-09)|BRCA - Breast invasive adenocarcinoma(10;7.26e-05)|OV - Ovarian serous cystadenocarcinoma(5;0.00223)|Colorectal(105;0.107)		29	3534	+	all_cancers(38;6.47e-12)|all_epithelial(29;3.75e-13)		903						Missense_Mutation	SNP	ENST00000360203.5	37	c.2707G>A		.	.	.	.	.	.	.	.	.	.	G	14.86	2.660166	0.47572	0.0	1.17E-4	ENSG00000258366	ENST00000370018;ENST00000318100;ENST00000508582;ENST00000360203;ENST00000370003	T;T;T;T;T	0.10763	2.84;2.84;2.84;2.84;2.84	4.59	4.59	0.56863	.	0.111999	0.64402	D	0.000010	T	0.31009	0.0783	L	0.61387	1.9	0.39435	D	0.967157	D;D;D;D	0.89917	0.968;1.0;0.991;0.975	P;D;P;P	0.91635	0.714;0.999;0.791;0.742	T	0.05835	-1.0861	10	0.56958	D	0.05	-27.1972	16.5163	0.84301	0.0:0.0:1.0:0.0	.	927;148;903;903	Q9NZ71-7;Q9NZ71-5;Q9NZ71;Q9NZ71-6	.;.;RTEL1_HUMAN;.	M	903;903;927;903;148	ENSP00000359035:V903M;ENSP00000322287:V903M;ENSP00000424307:V927M;ENSP00000353332:V903M;ENSP00000359020:V148M	ENSP00000353332:V903M	V	+	1	0	AL353715.1	61794656	1.000000	0.71417	0.939000	0.37840	0.343000	0.28985	3.355000	0.52262	2.271000	0.75665	0.442000	0.29010	GTG		0.642	RTEL1-011	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000289781.1	NM_032957		3	117	0	0	0	1	0	3	117					A	62324212	G	A	62324212	3	1	232	1	0	0	0	0	1	0	0	0	13720	1145	40	1	2817	1	RTEL1	20	62324212	Missense_Mutation	SNP	G	TCGA-HC-8259-01A-11D-2260-08	203753	62324212	701308	76	10842											
SEC14L2	23541	broad.mit.edu	37	chr22	30812287	30812287	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcctgaagaccaagatgggaGagaggcagcgggcaggggag	12	3	19	7	1	0	4	0	1	0	3	1	7	1	6	2	5	1	2	2	5	2	0			TCGA-HC-8259-01A-11D-2260-08	TCGA-HC-8259-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a3672a-baa0-4d94-aad4-c88dfc3d357f	a537ec83-4cbe-4ddc-9116-39468c6bd4bb	g.chr22:30812287G>A	ENST00000312932.9	+	11	1236	c.976G>A	c.(976-978)Gag>Aag	p.E326K	SEC14L2_ENST00000405717.3_Missense_Mutation_p.E326K|SEC14L2_ENST00000403484.1_Missense_Mutation_p.E252K|SEC14L2_ENST00000402592.3_Missense_Mutation_p.E243K|RP4-539M6.19_ENST00000439838.1_Missense_Mutation_p.E160K	NM_012429.3	NP_036561.1	O76054	S14L2_HUMAN	SEC14-like 2 (S. cerevisiae)	326	GOLD. {ECO:0000255|PROSITE- ProRule:PRU00096}.				positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cholesterol biosynthetic process (GO:0045540)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	phospholipid binding (GO:0005543)|transporter activity (GO:0005215)|vitamin E binding (GO:0008431)			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|urinary_tract(1)	10					Vitamin E(DB00163)	CAAGATGGGAGAGAGGCAGCG	0.537																																						ENST00000312932.9																			0				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|urinary_tract(1)	10						c.(976-978)Gag>Aag		SEC14-like 2 (S. cerevisiae)	Vitamin E(DB00163)						88	88	88					22																	30812287		2203	4300	6503	SO:0001583	missense	23541				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane|nucleus	phospholipid binding|transporter activity|vitamin E binding	g.chr22:30812287G>A	AL096881	CCDS13876.1, CCDS46685.1, CCDS56228.1	22q12.2	2010-08-19	2001-11-28		ENSG00000100003	ENSG00000100003			10699	protein-coding gene	gene with protein product	"supernatant protein factor"	607558	"SEC14 (S. cerevisiae)-like 2"	C22orf6		10591208	Standard	NM_033382		Approved	TAP, SPF, KIAA1186, KIAA1658	uc003ahr.3	O76054	OTTHUMG00000151024	ENST00000312932.9:c.976G>A	22.37:g.30812287G>A	ENSP00000316203:p.Glu326Lys					SEC14L2_ENST00000405717.3_Missense_Mutation_p.E326K|SEC14L2_ENST00000403484.1_Missense_Mutation_p.E252K|SEC14L2_ENST00000402592.3_Missense_Mutation_p.E243K|RP4-539M6.19_ENST00000439838.1_Missense_Mutation_p.E160K	p.E326K	NM_012429.3	NP_036561.1	O76054	S14L2_HUMAN			11	1236	+			326			GOLD.		B7Z8Q1|F5H3U4|Q53EQ2|Q6PD61|Q9ULN4	Missense_Mutation	SNP	ENST00000312932.9	37	c.976G>A	CCDS13876.1	.	.	.	.	.	.	.	.	.	.	G	33	5.255276	0.95336	.	.	ENSG00000100003;ENSG00000100003;ENSG00000100003;ENSG00000100003;ENSG00000249590	ENST00000312932;ENST00000403484;ENST00000405717;ENST00000402592;ENST00000439838	T;T;T;T;T	0.48201	0.82;0.82;0.82;0.82;0.82	5.42	5.42	0.78866	GOLD (2);	0.000000	0.85682	D	0.000000	T	0.62319	0.2418	M	0.80616	2.505	0.80722	D	1	P;P;P;P;B;P	0.52170	0.806;0.902;0.457;0.762;0.071;0.951	B;P;B;B;B;P	0.50049	0.309;0.518;0.11;0.31;0.013;0.629	T	0.63703	-0.6577	10	0.40728	T	0.16	-14.4454	19.0011	0.92834	0.0:0.0:1.0:0.0	.	243;243;272;252;326;326	F5H3U4;B7Z8Q1;B7Z3Z8;B3KRD8;O76054;O76054-4	.;.;.;.;S14L2_HUMAN;.	K	326;252;326;243;160	ENSP00000316203:E326K;ENSP00000383993:E252K;ENSP00000385186:E326K;ENSP00000383882:E243K;ENSP00000415178:E160K	ENSP00000415178:E160K	E	+	1	0	RP4-539M6.19;SEC14L2	29142287	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.184000	0.58323	2.820000	0.97059	0.650000	0.86243	GAG		0.537	SEC14L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321018.4	NM_012429		3	73	0	0	0	1	0	3	73					A	30812287	G	A	30812287	3	1	232	1	0	0	0	0	1	0	0	0	13982	943	33	3	1018	3	SEC14L2	22	30812287	Missense_Mutation	SNP	G	TCGA-HC-8259-01A-11D-2260-08		30812287	20492279	77	10843											
MBTPS2	51360	broad.mit.edu	37	chrX	21857869	21857871	+	In_Frame_Del	DEL	TGG	TGG	-																															cgccatgattccggtgtcgcTggtggtggtggtggtgggtg																								rs398124305		TCGA-HC-8259-01A-11D-2260-08	TCGA-HC-8259-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a3672a-baa0-4d94-aad4-c88dfc3d357f	a537ec83-4cbe-4ddc-9116-39468c6bd4bb	g.chrX:21857869_21857871delTGG	ENST00000379484.5	+	1	116_118	c.17_19delTGG	c.(16-21)ctggtg>ctg	p.V11del	MBTPS2_ENST00000365779.2_In_Frame_Del_p.V11del|MBTPS2_ENST00000465888.1_3'UTR	NM_015884.3	NP_056968.1	O43462	MBTP2_HUMAN	membrane-bound transcription factor peptidase, site 2	11					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|cholesterol metabolic process (GO:0008203)|endoplasmic reticulum unfolded protein response (GO:0030968)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			breast(2)|endometrium(3)|large_intestine(3)|lung(13)|ovary(1)|skin(2)	24						CCGGTGTCGCTGGTGGTGGTGGT	0.685																																						ENST00000365779.2																			0				breast(2)|endometrium(3)|large_intestine(3)|lung(13)|ovary(1)|skin(2)	24						c.(16-21)ctg>c		membrane-bound transcription factor peptidase, site 2				318,3361		136,29,17,1421,490						2.4	1			49	402,6025		122,56,102,2168,1633	no	coding	MBTPS2	NM_015884.3		258,85,119,3589,2123	A1A1,A1R,A1,RR,R		6.2549,8.6437,7.1245				720,9386				SO:0001651	inframe_deletion	51360				cholesterol metabolic process|proteolysis	Golgi membrane|integral to membrane	metal ion binding|metalloendopeptidase activity	g.chrX:21857869_21857871delTGG	AF019612	CCDS14201.1	Xp22.12-p22.11	2014-02-03	2005-08-17		ENSG00000012174	ENSG00000012174			15455	protein-coding gene	gene with protein product		300294	"membrane-bound transcription factor protease, site 2", "keratosis follicularis spinulosa decalvans"	KFSD		9847074, 9659902, 20672378	Standard	NM_015884		Approved	S2P	uc004dae.3	O43462	OTTHUMG00000021237	ENST00000379484.5:c.17_19delTGG	X.37:g.21857878_21857880delTGG	ENSP00000368798:p.Val11del					MBTPS2_ENST00000465888.1_3'UTR|MBTPS2_ENST00000379484.5_In_Frame_Del_p.LV6del	p.LV6del			O43462	MBTP2_HUMAN			1	98_100	+			6					Q9UM70|Q9UMD3	In_Frame_Del	DEL	ENST00000379484.5	37	c.17_19delTGG	CCDS14201.1																																																																																				0.685	MBTPS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056026.1			3	4						3	4	---	---	---	---	-	21857871	TGG	-	21857869	7	5	232	1	0	1	0	1	0	0	0	0	9362	1580	55	0	19	0	MBTPS2	23	21857869	In_Frame_Del	DEL	TGG	TCGA-HC-8259-01A-11D-2260-08		21857869	133412691	78	10844											
FAM47C	442444	broad.mit.edu	37	chrX	37027156	37027156	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagtgtcccatctccgcccaCagcctcccaagactcaggtg	8	7	9	17	1	2	1	1	0	1	1	5	2	4	1	5	1	1	0	5	1	1	0	rs368685662		TCGA-HC-8259-01A-11D-2260-08	TCGA-HC-8259-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a3672a-baa0-4d94-aad4-c88dfc3d357f	a537ec83-4cbe-4ddc-9116-39468c6bd4bb	g.chrX:37027156C>G	ENST00000358047.3	+	1	725	c.673C>G	c.(673-675)Cag>Gag	p.Q225E		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	225										breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						TCTCCGCCCACAGCCTCCCAA	0.647																																						ENST00000358047.3																			0				breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						c.(673-675)Cag>Gag		family with sequence similarity 47, member C							41	41	41					X																	37027156		2202	4298	6500	SO:0001583	missense	442444							g.chrX:37027156C>G	AK125992	CCDS35227.1	Xp21.1	2006-07-04			ENSG00000198173	ENSG00000198173			25301	protein-coding gene	gene with protein product							Standard	NM_001013736		Approved		uc004ddl.2	Q5HY64	OTTHUMG00000024025	ENST00000358047.3:c.673C>G	X.37:g.37027156C>G	ENSP00000367913:p.Gln225Glu						p.Q225E	NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN			1	725	+			225					Q6ZU46	Missense_Mutation	SNP	ENST00000358047.3	37	c.673C>G	CCDS35227.1	.	.	.	.	.	.	.	.	.	.	G	0	-2.683783	0.00101	.	.	ENSG00000198173	ENST00000358047	T	0.12672	2.66	0.96	0.96	0.19631	.	.	.	.	.	T	0.01870	0.0059	N	0.00114	-2.085	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.37337	-0.9710	9	0.02654	T	1	.	2.8694	0.05611	0.2407:0.2933:0.466:0.0	.	225	Q5HY64	FA47C_HUMAN	E	225	ENSP00000367913:Q225E	ENSP00000367913:Q225E	Q	+	1	0	FAM47C	36937077	0.000000	0.05858	0.016000	0.15963	0.016000	0.09150	-3.060000	0.00624	-1.049000	0.03234	-1.043000	0.02367	CAG		0.647	FAM47C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060508.1	NM_001013736		3	44	0	0	0	1	0	3	44					G	37027156	C	G	37027156	3	3	232	1	0	0	0	0	1	0	0	0	5571	479	17	5	675	5	FAM47C	23	37027156	Missense_Mutation	SNP	C	TCGA-HC-8259-01A-11D-2260-08	15169287	37027156	118243404	79	10845											
FAM47C	442444	broad.mit.edu	37	chrX	37028425	37028425	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtctccgcccggagcctcccAatactggagtgtcccatctc	6	9	9	17	2	2	0	0	0	2	0	6	2	4	2	5	2	2	0	5	2	2	1	rs145580328		TCGA-HC-8259-01A-11D-2260-08	TCGA-HC-8259-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a3672a-baa0-4d94-aad4-c88dfc3d357f	a537ec83-4cbe-4ddc-9116-39468c6bd4bb	g.chrX:37028425A>G	ENST00000358047.3	+	1	1994	c.1942A>G	c.(1942-1944)Aat>Gat	p.N648D		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	648								p.N648D(7)		breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						GGAGCCTCCCAATACTGGAGT	0.642																																						ENST00000358047.3																			7	Substitution - Missense(7)	p.N648D(7)	urinary_tract(2)|prostate(2)|lung(2)|skin(1)	breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						c.(1942-1944)Aat>Gat		family with sequence similarity 47, member C							51	56	55					X																	37028425		2201	4299	6500	SO:0001583	missense	442444							g.chrX:37028425A>G	AK125992	CCDS35227.1	Xp21.1	2006-07-04			ENSG00000198173	ENSG00000198173			25301	protein-coding gene	gene with protein product							Standard	NM_001013736		Approved		uc004ddl.2	Q5HY64	OTTHUMG00000024025	ENST00000358047.3:c.1942A>G	X.37:g.37028425A>G	ENSP00000367913:p.Asn648Asp						p.N648D	NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN			1	1994	+			648					Q6ZU46	Missense_Mutation	SNP	ENST00000358047.3	37	c.1942A>G	CCDS35227.1	.	.	.	.	.	.	.	.	.	.	-	3.343	-0.134139	0.06711	.	.	ENSG00000198173	ENST00000358047	T	0.13196	2.61	1.61	-3.22	0.05125	.	.	.	.	.	T	0.04543	0.0124	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.38993	-0.9635	9	0.20519	T	0.43	.	0.6811	0.00875	0.2356:0.2078:0.3498:0.2069	.	648	Q5HY64	FA47C_HUMAN	D	648	ENSP00000367913:N648D	ENSP00000367913:N648D	N	+	1	0	FAM47C	36938346	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.937000	0.01547	-1.437000	0.01967	-1.178000	0.01721	AAT		0.642	FAM47C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060508.1	NM_001013736		4	69	0	0	0	1	0	4	69					G	37028425	A	G	37028425	3	3	232	1	0	0	0	0	1	0	0	0	5571	130	5	4	1944	4	FAM47C	23	37028425	Missense_Mutation	SNP	A	TCGA-HC-8259-01A-11D-2260-08	1269	37028425	118242135	80	10846											
IRS4	8471	broad.mit.edu	37	chrX	107977561	107977561	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gatctctgcatctttcacttCtttggcttctttgcattctt	4	21	5	11	0	6	0	1	0	5	0	7	1	6	0	0	1	2	3	0	1	0	7			TCGA-HC-8259-01A-11D-2260-08	TCGA-HC-8259-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a3672a-baa0-4d94-aad4-c88dfc3d357f	a537ec83-4cbe-4ddc-9116-39468c6bd4bb	g.chrX:107977561C>G	ENST00000372129.2	-	1	2090	c.2014G>C	c.(2014-2016)Gaa>Caa	p.E672Q	RP6-24A23.3_ENST00000436013.1_RNA|RP6-24A23.6_ENST00000563887.1_5'Flank|RP6-24A23.3_ENST00000608811.1_RNA	NM_003604.2	NP_003595.1	O14654	IRS4_HUMAN	insulin receptor substrate 4	672					positive regulation of signal transduction (GO:0009967)|signal transduction (GO:0007165)	plasma membrane (GO:0005886)	SH3/SH2 adaptor activity (GO:0005070)|signal transducer activity (GO:0004871)			NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						TCTTTCACTTCTTTGGCTTCT	0.498																																						ENST00000372129.2																			0				NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						c.(2014-2016)Gaa>Caa		insulin receptor substrate 4							275	273	273					X																	107977561		2203	4300	6503	SO:0001583	missense	8471					plasma membrane	insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity	g.chrX:107977561C>G	AF007567	CCDS14544.1	Xq22.3	2008-08-01			ENSG00000133124	ENSG00000133124			6128	protein-coding gene	gene with protein product		300904				9261155, 9553137	Standard	NM_003604		Approved	PY160, IRS-4	uc004eoc.2	O14654	OTTHUMG00000022181	ENST00000372129.2:c.2014G>C	X.37:g.107977561C>G	ENSP00000361202:p.Glu672Gln						p.E672Q	NM_003604.2	NP_003595.1	O14654	IRS4_HUMAN			1	2090	-			672						Missense_Mutation	SNP	ENST00000372129.2	37	c.2014G>C	CCDS14544.1	.	.	.	.	.	.	.	.	.	.	C	7.948	0.744329	0.15710	.	.	ENSG00000133124	ENST00000372129	T	0.39229	1.09	4.2	3.33	0.38152	.	0.431704	0.22304	N	0.061824	T	0.35098	0.0920	M	0.65498	2.005	0.09310	N	1	B	0.34214	0.442	B	0.29440	0.102	T	0.20472	-1.0274	10	0.33141	T	0.24	-4.5847	7.9499	0.30008	0.0:0.7439:0.1617:0.0943	.	672	O14654	IRS4_HUMAN	Q	672	ENSP00000361202:E672Q	ENSP00000361202:E672Q	E	-	1	0	IRS4	107864217	0.995000	0.38212	0.497000	0.27552	0.035000	0.12851	2.752000	0.47516	2.078000	0.62432	0.556000	0.70494	GAA		0.498	IRS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057879.1	NM_003604		33	165	0	0	0	1	0	33	165					G	107977561	C	G	107977561	3	3	232	1	0	0	0	0	1	0	0	0	7842	922	32	5	1763	5	IRS4	23	107977561	Missense_Mutation	SNP	C	TCGA-HC-8259-01A-11D-2260-08	70949136	107977561	47292999	81	10847											
MEX3A	92312	broad.mit.edu	37	chr1	156046660	156046660	+	Frame_Shift_Del	DEL	G	G	-																															caggggagcggtgtgcgcccGggggcccagcgcgggccttg																										TCGA-HC-8260-01A-11D-2260-08	TCGA-HC-8260-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac240fae-de3a-4831-af2d-0047fca54825	16d78baa-531a-4ec3-a6fa-d68143626080	g.chr1:156046660delG	ENST00000532414.2	-	2	1267	c.1268delC	c.(1267-1269)ccgfs	p.P423fs	AL355388.1_ENST00000410679.1_RNA|MEX3A_ENST00000442784.1_5'Flank	NM_001093725.1	NP_001087194.1	A1L020	MEX3A_HUMAN	mex-3 RNA binding family member A	423						cytoplasm (GO:0005737)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(3)|lung(3)	9	Hepatocellular(266;0.158)|all_neural(408;0.195)					GTGTGCGCCCGGGGGCCCAGC	0.731																																						ENST00000532414.2																			0				endometrium(2)|kidney(1)|large_intestine(3)|lung(3)	9						c.(1267-1269)cgfs		mex-3 RNA binding family member A							3	4	4					1																	156046660		1642	3659	5301	SO:0001589	frameshift_variant	92312					cytoplasmic mRNA processing body|nucleus	RNA binding|zinc ion binding	g.chr1:156046660delG	AK024097	CCDS53377.1	1q22	2013-09-24	2013-08-21	2007-07-18	ENSG00000254726	ENSG00000254726		"RING-type (C3HC4) zinc fingers", "Mex-3 homologs"	33482	protein-coding gene	gene with protein product		611007	"ring finger and KH domain containing 4", "mex-3 homolog A (C. elegans)"	RKHD4		17267406	Standard	NM_001093725		Approved		uc001fnd.4	A1L020	OTTHUMG00000017465	ENST00000532414.2:c.1268delC	1.37:g.156046660delG	ENSP00000432845:p.Pro423fs						p.P423fs	NM_001093725.1	NP_001087194.1	A1L020	MEX3A_HUMAN			2	1267	-	Hepatocellular(266;0.158)|all_neural(408;0.195)		423						Frame_Shift_Del	DEL	ENST00000532414.2	37	c.1268delC	CCDS53377.1																																																																																				0.731	MEX3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046218.3	NM_001093725		2	4						2	4	---	---	---	---	-	156046660	G	-	156046660	7	5	233	1	0	1	0	1	0	0	0	0	9509	1116	39	0	298	0	MEX3A	1	156046660	Frame_Shift_Del	DEL	G	TCGA-HC-8260-01A-11D-2260-08		156046660	93203961	1	10848											
GCG	2641	broad.mit.edu	37	chr2	163005635	163005635	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcttgaagggaacgttgccaGctgccttgtaccagcattac	9	11	10	11	1	1	1	0	1	1	0	1	2	1	2	3	1	7	4	3	1	4	5			TCGA-HC-8260-01A-11D-2260-08	TCGA-HC-8260-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac240fae-de3a-4831-af2d-0047fca54825	16d78baa-531a-4ec3-a6fa-d68143626080	g.chr2:163005635G>A	ENST00000418842.2	-	2	308	c.54C>T	c.(52-54)agC>agT	p.S18S	GCG_ENST00000375497.3_Silent_p.S18S	NM_002054.4	NP_002045.1	P01275	GLUC_HUMAN	glucagon	18					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cell proliferation (GO:0008283)|cellular protein metabolic process (GO:0044267)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|feeding behavior (GO:0007631)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of apoptotic process (GO:0043066)|negative regulation of execution phase of apoptosis (GO:1900118)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|positive regulation of calcium ion import (GO:0090280)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gluconeogenesis (GO:0045722)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0035774)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of protein binding (GO:0032092)|positive regulation of protein kinase activity (GO:0045860)|protein kinase A signaling (GO:0010737)|regulation of insulin secretion (GO:0050796)|response to starvation (GO:0042594)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)|secretory granule lumen (GO:0034774)	glucagon receptor binding (GO:0031769)|hormone activity (GO:0005179)|identical protein binding (GO:0042802)|receptor binding (GO:0005102)			breast(1)|central_nervous_system(1)|large_intestine(3)|lung(9)	14						AACGTTGCCAGCTGCCTTGTA	0.438																																						ENST00000418842.2																			0				breast(1)|central_nervous_system(1)|large_intestine(3)|lung(9)	14						c.(52-54)agC>agT		glucagon	Exenatide(DB01276)|Phentolamine(DB00692)						145	141	142					2																	163005635		1876	4111	5987	SO:0001819	synonymous_variant	2641				cell proliferation|cellular response to glucagon stimulus|energy reserve metabolic process|feeding behavior|regulation of insulin secretion	plasma membrane|soluble fraction	hormone activity	g.chr2:163005635G>A		CCDS46439.1	2q36-q37	2013-02-26			ENSG00000115263	ENSG00000115263		"Endogenous ligands"	4191	protein-coding gene	gene with protein product	"glicentin-related polypeptide", "glucagon-like peptide 1", "glucagon-like peptide 2", "preproglucagon"	138030				2753890, 3725587	Standard	NM_002054		Approved	GLP1, GLP2, GRPP	uc002ucc.4	P01275	OTTHUMG00000153892	ENST00000418842.2:c.54C>T	2.37:g.163005635G>A						GCG_ENST00000375497.3_Silent_p.S18S	p.S18S	NM_002054.4	NP_002045.1	P01275	GLUC_HUMAN			2	308	-			18					A6NN65|Q53TP6	Silent	SNP	ENST00000418842.2	37	c.54C>T	CCDS46439.1																																																																																				0.438	GCG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332860.1	NM_002054		10	77	0	0	0	1	0	10	77					A	163005635	G	A	163005635	2	1	233	1	0	0	0	0	0	0	0	1	6290	962	34	3		3	GCG	2	163005635	Silent	SNP	G	TCGA-HC-8260-01A-11D-2260-08		163005635	80193738	2	10849											
PCDHA13	56136	broad.mit.edu	37	chr5	140263757	140263757	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggcgagatcagcacgacgcGccctctggacgaggtggacg	8	5	16	12	6	2	1	1	0	1	1	2	6	2	3	1	4	1	1	1	4	0	0	rs142435897	byFrequency	TCGA-HC-8260-01A-11D-2260-08	TCGA-HC-8260-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac240fae-de3a-4831-af2d-0047fca54825	16d78baa-531a-4ec3-a6fa-d68143626080	g.chr5:140263757G>A	ENST00000289272.2	+	1	1904	c.1904G>A	c.(1903-1905)cGc>cAc	p.R635H	PCDHA9_ENST00000532602.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA13_ENST00000409494.1_Missense_Mutation_p.R635H|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000394633.3_Intron	NM_018904.2|NM_031865.1	NP_061727.1|NP_114071.1	Q9Y5I0	PCDAD_HUMAN	protocadherin alpha 13	635	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|biliary_tract(2)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(18)|liver(3)|lung(23)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGCACGACGCGCCCTCTGGAC	0.677																																					Melanoma(147;1739 1852 5500 27947 37288)	ENST00000289272.2																			0				NS(1)|biliary_tract(2)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(18)|liver(3)|lung(23)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	95						c.(1903-1905)cGc>cAc									58	61	60					5																	140263757		2203	4298	6501	SO:0001583	missense	0							g.chr5:140263757G>A	AF152478	CCDS4240.1	5q31	2010-11-26			ENSG00000239389	ENSG00000239389		"Cadherins / Protocadherins : Clustered"	8667	other	complex locus constituent	"KIAA0345-like 1", "ortholog of mouse CNR5"	606319		CNRS5		10380929, 10662547	Standard	NM_018904		Approved	CNR5, CRNR5, CNRN5, PCDH-ALPHA13		Q9Y5I0	OTTHUMG00000129614	ENST00000289272.2:c.1904G>A	5.37:g.140263757G>A	ENSP00000289272:p.Arg635His					PCDHA4_ENST00000512229.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA13_ENST00000409494.1_Missense_Mutation_p.R635H|PCDHA9_ENST00000532602.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA10_ENST00000506939.2_Intron	p.R635H	NM_018904.2|NM_031865.1	NP_061727.1|NP_114071.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1904	+								O75277	Missense_Mutation	SNP	ENST00000289272.2	37	c.1904G>A	CCDS4240.1	.	.	.	.	.	.	.	.	.	.	G	14.78	2.637159	0.47049	.	.	ENSG00000239389	ENST00000409494;ENST00000289272	T;T	0.53857	0.6;0.6	4.15	4.15	0.48705	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.72228	0.3434	M	0.86028	2.79	0.31673	N	0.644148	D;D;D	0.76494	0.999;0.999;0.999	P;D;D	0.66847	0.864;0.947;0.941	T	0.77151	-0.2693	9	0.87932	D	0	.	11.2619	0.49089	0.0886:0.0:0.9114:0.0	.	635;635;635	Q9Y5I0;C9JA99;Q9Y5I0-2	PCDAD_HUMAN;.;.	H	635	ENSP00000386821:R635H;ENSP00000289272:R635H	ENSP00000289272:R635H	R	+	2	0	PCDHA13	140243941	0.011000	0.17503	0.252000	0.24328	0.077000	0.17291	1.616000	0.36933	2.136000	0.66102	0.655000	0.94253	CGC		0.677	PCDHA13-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335000.1	NM_018904		19	87	0	0	0	1	0	19	87					A	140263757	G	A	140263757	3	1	233	1	0	0	0	0	1	0	0	0	11523	1087	38	1	1906	1	PCDHA13	5	140263757	Missense_Mutation	SNP	G	TCGA-HC-8260-01A-11D-2260-08		140263757	40651503	3	10850											
GCC1	79571	broad.mit.edu	37	chr7	127222427	127222427	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cttgcgggccagttgctcagCgtacagaaagaaagtgggct	10	8	14	9	2	1	2	1	0	0	2	1	2	1	2	1	2	4	4	1	2	3	3			TCGA-HC-8260-01A-11D-2260-08	TCGA-HC-8260-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac240fae-de3a-4831-af2d-0047fca54825	16d78baa-531a-4ec3-a6fa-d68143626080	g.chr7:127222427C>T	ENST00000321407.2	-	2	2393	c.1969G>A	c.(1969-1971)Gct>Act	p.A657T	GCC1_ENST00000497650.1_5'Flank	NM_024523.5	NP_078799.2	Q96CN9	GCC1_HUMAN	GRIP and coiled-coil domain containing 1	657					protein targeting to Golgi (GO:0000042)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)				breast(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						AGTTGCTCAGCGTACAGAAAG	0.577																																						ENST00000321407.2																			0				breast(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						c.(1969-1971)Gct>Act		GRIP and coiled-coil domain containing 1							113	106	109					7																	127222427		2203	4300	6503	SO:0001583	missense	79571					Golgi membrane|plasma membrane	protein binding	g.chr7:127222427C>T	AF525417	CCDS5796.1	7q22.3	2004-03-05	2003-10-17		ENSG00000179562	ENSG00000179562			19095	protein-coding gene	gene with protein product		607418	"golgi coiled-coil 1"			10209125	Standard	NM_024523		Approved	FLJ22035, GCC88, GCC1P, MGC20706	uc003vma.3	Q96CN9	OTTHUMG00000023590	ENST00000321407.2:c.1969G>A	7.37:g.127222427C>T	ENSP00000318821:p.Ala657Thr						p.A657T	NM_024523.5	NP_078799.2	Q96CN9	GCC1_HUMAN			2	2393	-			657					Q9H6N7	Missense_Mutation	SNP	ENST00000321407.2	37	c.1969G>A	CCDS5796.1	.	.	.	.	.	.	.	.	.	.	C	14.45	2.538895	0.45176	.	.	ENSG00000179562	ENST00000321407	T	0.15017	2.46	5.87	4.99	0.66335	.	0.047505	0.85682	D	0.000000	T	0.30386	0.0763	L	0.40543	1.245	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.02676	-1.1125	10	0.21540	T	0.41	-5.2728	13.3198	0.60426	0.0:0.9233:0.0:0.0767	.	657	Q96CN9	GCC1_HUMAN	T	657	ENSP00000318821:A657T	ENSP00000318821:A657T	A	-	1	0	GCC1	127009663	1.000000	0.71417	0.119000	0.21687	0.002000	0.02628	6.953000	0.75995	1.626000	0.50381	0.655000	0.94253	GCT		0.577	GCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059911.3	NM_024523		4	49	0	0	0	1	0	4	49					T	127222427	C	T	127222427	3	4	233	1	0	0	0	0	1	0	0	0	6285	768	27	1	362	1	GCC1	7	127222427	Missense_Mutation	SNP	C	TCGA-HC-8260-01A-11D-2260-08		127222427	31916236	4	10851											
FAM75A6	389730	broad.mit.edu	37	chr9	43627235	43627235	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gccataggtgtgggcaggaaTtggggtgtggatgaaataaa	12	9	17	3	0	0	1	0	1	0	0	0	3	0	3	1	6	0	1	1	6	5	3	rs552974847	byFrequency	TCGA-HC-8260-01A-11D-2260-08	TCGA-HC-8260-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac240fae-de3a-4831-af2d-0047fca54825	16d78baa-531a-4ec3-a6fa-d68143626080	g.chr9:43627235T>A	ENST00000332857.6	-	4	1480	c.1452A>T	c.(1450-1452)caA>caT	p.Q484H	SPATA31A6_ENST00000496386.1_5'Flank	NM_001145196.1	NP_001138668.1	Q5VVP1	S31A6_HUMAN	SPATA31 subfamily A, member 6	484					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											TGGGCAGGAATTGGGGTGTGG	0.537													T|||	2	0.000399361	0	0	5008	,	,		14089	0		0	False		,,,				2504	0.002					ENST00000332857.6																			0											c.(1450-1452)caA>caT		SPATA31 subfamily A, member 6							92	103	100					9																	43627235		615	1533	2148	SO:0001583	missense	389730							g.chr9:43627235T>A		CCDS75837.1	9p11.2	2012-10-15	2012-10-12	2012-10-12	ENSG00000185775	ENSG00000185775			32006	protein-coding gene	gene with protein product			"family with sequence similarity 75, member A6"	FAM75A6		20850414	Standard	NM_001145196		Approved	OTTHUMG00000013224	uc011lrb.2	Q5VVP1	OTTHUMG00000013224	ENST00000332857.6:c.1452A>T	9.37:g.43627235T>A	ENSP00000329825:p.Gln484His						p.Q484H	NM_001145196.1	NP_001138668.1					4	1480	-									Missense_Mutation	SNP	ENST00000332857.6	37	c.1452A>T	CCDS47973.1	.	.	.	.	.	.	.	.	.	.	T	10.85	1.466088	0.26335	.	.	ENSG00000185775	ENST00000332857	T	0.10099	2.91	2.1	0.931	0.19460	.	0.321861	0.22716	N	0.056505	T	0.12263	0.0298	L	0.56280	1.765	0.09310	N	1	P	0.50528	0.936	P	0.48030	0.564	T	0.11966	-1.0566	10	0.72032	D	0.01	0.0214	3.9328	0.09293	0.0:0.1896:0.0:0.8104	.	484	Q5VVP1	F75A6_HUMAN	H	484	ENSP00000329825:Q484H	ENSP00000329825:Q484H	Q	-	3	2	FAM75A6	43567231	0.001000	0.12720	0.001000	0.08648	0.001000	0.01503	0.456000	0.21859	0.267000	0.21916	-0.562000	0.04174	CAA		0.537	SPATA31A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036987.1	NM_001145196		30	142	0	0	0	1	0	30	142					A	43627235	T	A	43627235	3	1	233	1	0	0	0	0	1	0	0	0	5622	1490	52	5	2583	5	FAM75A6	9	43627235	Missense_Mutation	SNP	T	TCGA-HC-8260-01A-11D-2260-08		43627235	97586196	5	10852											
FAM171A1	221061	broad.mit.edu	37	chr10	15255016	15255016	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcatcgtcttcctcttcctcGtgggcagatcttctctggtg	3	16	9	13	2	5	1	1	0	4	1	10	1	7	1	2	2	0	1	2	2	0	3			TCGA-HC-8260-01A-11D-2260-08	TCGA-HC-8260-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac240fae-de3a-4831-af2d-0047fca54825	16d78baa-531a-4ec3-a6fa-d68143626080	g.chr10:15255016G>A	ENST00000378116.4	-	8	2577	c.2571C>T	c.(2569-2571)caC>caT	p.H857H	FAM171A1_ENST00000477161.1_5'Flank	NM_001010924.1	NP_001010924.1	Q5VUB5	F1711_HUMAN	family with sequence similarity 171, member A1	857						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(6)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	52						CCTCTTCCTCGTGGGCAGATC	0.592																																						ENST00000378116.4																			0				breast(6)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	52						c.(2569-2571)caC>caT		family with sequence similarity 171, member A1							137	141	140					10																	15255016		2203	4300	6503	SO:0001819	synonymous_variant	221061					integral to membrane		g.chr10:15255016G>A	AK022946	CCDS31154.1	10p13	2008-06-16	2008-06-16	2008-06-16	ENSG00000148468	ENSG00000148468			23522	protein-coding gene	gene with protein product			"chromosome 10 open reading frame 38"	C10orf38			Standard	NM_001010924		Approved	FLJ12884	uc001iob.3	Q5VUB5	OTTHUMG00000017732	ENST00000378116.4:c.2571C>T	10.37:g.15255016G>A							p.H857H	NM_001010924.1	NP_001010924.1	Q5VUB5	F1711_HUMAN			8	2577	-			857					D3DRT9|Q32M49|Q8N4I0	Silent	SNP	ENST00000378116.4	37	c.2571C>T	CCDS31154.1																																																																																				0.592	FAM171A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046984.1	XM_167709		6	68	0	0	0	1	0	6	68					A	15255016	G	A	15255016	2	1	233	1	0	0	0	0	0	0	0	1	5490	1136	40	1		1	FAM171A1	10	15255016	Silent	SNP	G	TCGA-HC-8260-01A-11D-2260-08		15255016	120279731	6	10853											
TET1	80312	broad.mit.edu	37	chr10	70332588	70332588	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttccaatgcaagacacccaaGtccttcctgatatagagact	13	10	6	12	0	0	3	0	1	0	2	3	4	3	3	4	0	1	1	4	0	5	4			TCGA-HC-8260-01A-11D-2260-08	TCGA-HC-8260-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac240fae-de3a-4831-af2d-0047fca54825	16d78baa-531a-4ec3-a6fa-d68143626080	g.chr10:70332588G>C	ENST00000373644.4	+	2	702	c.493G>C	c.(493-495)Gtc>Ctc	p.V165L		NM_030625.2	NP_085128.2	Q8NFU7	TET1_HUMAN	tet methylcytosine dioxygenase 1	165					chromatin modification (GO:0016568)|DNA demethylation (GO:0080111)|inner cell mass cell differentiation (GO:0001826)|negative regulation of methylation-dependent chromatin silencing (GO:0090310)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein O-linked glycosylation (GO:0006493)|regulation of DNA methylation (GO:0044030)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	iron ion binding (GO:0005506)|methylcytosine dioxygenase activity (GO:0070579)|structure-specific DNA binding (GO:0043566)|zinc ion binding (GO:0008270)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2)	21						AGACACCCAAGTCCTTCCTGA	0.398																																						ENST00000373644.4																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2)	21						c.(493-495)Gtc>Ctc		tet methylcytosine dioxygenase 1							71	70	71					10																	70332588		2203	4300	6503	SO:0001583	missense	80312				DNA demethylation|inner cell mass cell differentiation|negative regulation of methylation-dependent chromatin silencing|stem cell maintenance		iron ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|structure-specific DNA binding|zinc ion binding	g.chr10:70332588G>C	AF430147	CCDS7281.1	10q21	2014-02-18	2011-09-30	2008-03-12	ENSG00000138336	ENSG00000138336			29484	protein-coding gene	gene with protein product	"leukemia-associated protein with a CXXC domain", "ten-eleven translocation-1"	607790	"CXXC zinc finger 6", "tet oncogene 1"	CXXC6		12124344, 12646957	Standard	NM_030625		Approved	LCX, KIAA1676, bA119F7.1	uc001jok.4	Q8NFU7	OTTHUMG00000018359	ENST00000373644.4:c.493G>C	10.37:g.70332588G>C	ENSP00000362748:p.Val165Leu						p.V165L	NM_030625.2	NP_085128.2	Q8NFU7	TET1_HUMAN			2	702	+			165					Q5VUP7|Q7Z6B6|Q8TCR1|Q9C0I7	Missense_Mutation	SNP	ENST00000373644.4	37	c.493G>C	CCDS7281.1	.	.	.	.	.	.	.	.	.	.	G	3.530	-0.095918	0.07010	.	.	ENSG00000138336	ENST00000373644	T	0.07021	3.23	5.24	-4.04	0.04010	.	1.581080	0.03860	N	0.273812	T	0.05731	0.0150	N	0.14661	0.345	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.41592	-0.9500	10	0.46703	T	0.11	.	9.4778	0.38882	0.3017:0.1319:0.5665:0.0	.	165	Q8NFU7	TET1_HUMAN	L	165	ENSP00000362748:V165L	ENSP00000362748:V165L	V	+	1	0	TET1	70002594	0.000000	0.05858	0.000000	0.03702	0.022000	0.10575	-0.580000	0.05827	-1.141000	0.02873	-0.471000	0.05019	GTC		0.398	TET1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048354.1	NM_030625		4	39	0	0	0	1	0	4	39					C	70332588	G	C	70332588	3	2	233	1	0	0	0	0	1	0	0	0	15766	1029	36	5	495	5	TET1	10	70332588	Missense_Mutation	SNP	G	TCGA-HC-8260-01A-11D-2260-08	55077572	70332588	65202159	7	10854											
MAT1A	4143	broad.mit.edu	37	chr10	82034334	82034334	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caccacatccagcagctctcGctctgtcttctgagaggttc	7	11	8	15	1	4	1	0	1	4	1	7	2	5	1	2	1	2	4	2	1	0	2			TCGA-HC-8260-01A-11D-2260-08	TCGA-HC-8260-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac240fae-de3a-4831-af2d-0047fca54825	16d78baa-531a-4ec3-a6fa-d68143626080	g.chr10:82034334G>A	ENST00000372213.3	-	8	1287	c.1027C>T	c.(1027-1029)Cga>Tga	p.R343*	MAT1A_ENST00000485270.1_5'UTR	NM_000429.2	NP_000420.1	Q00266	METK1_HUMAN	methionine adenosyltransferase I, alpha	343					cellular amino acid metabolic process (GO:0006520)|cellular nitrogen compound metabolic process (GO:0034641)|methylation (GO:0032259)|one-carbon metabolic process (GO:0006730)|S-adenosylmethionine biosynthetic process (GO:0006556)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|methionine adenosyltransferase activity (GO:0004478)			endometrium(4)|large_intestine(7)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26			Colorectal(32;0.229)		L-Methionine(DB00134)|S-Adenosylmethionine(DB00118)	AGCAGCTCTCGCTCTGTCTTC	0.557																																						ENST00000372213.3																			0				endometrium(4)|large_intestine(7)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26						c.(1027-1029)Cga>Tga		methionine adenosyltransferase I, alpha	L-Methionine(DB00134)|S-Adenosylmethionine(DB00118)						174	156	162					10																	82034334		2203	4300	6503	SO:0001587	stop_gained	4143				methylation|S-adenosylmethionine biosynthetic process|xenobiotic metabolic process	cytosol	ATP binding|metal ion binding|methionine adenosyltransferase activity	g.chr10:82034334G>A		CCDS7365.1	10q22	2008-08-01			ENSG00000151224	ENSG00000151224			6903	protein-coding gene	gene with protein product	"S-adenosylmethionine synthetase"	610550				8393662	Standard	XM_005269842		Approved	MAT, SAMS, MATA1, SAMS1	uc001kbw.3	Q00266	OTTHUMG00000018613	ENST00000372213.3:c.1027C>T	10.37:g.82034334G>A	ENSP00000361287:p.Arg343*					MAT1A_ENST00000485270.1_5'UTR	p.R343*	NM_000429.2	NP_000420.1	Q00266	METK1_HUMAN	Colorectal(32;0.229)		8	1287	-			343					D3DWD5|Q5QP09	Nonsense_Mutation	SNP	ENST00000372213.3	37	c.1027C>T	CCDS7365.1	.	.	.	.	.	.	.	.	.	.	G	37	6.214036	0.97380	.	.	ENSG00000151224	ENST00000372213;ENST00000372206	.	.	.	5.09	-1.26	0.09376	.	0.428221	0.25422	N	0.030793	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.25106	T	0.35	-1.5604	15.2348	0.73419	0.0:0.0:0.5854:0.4146	.	.	.	.	X	343	.	ENSP00000361280:R343X	R	-	1	2	MAT1A	82024314	0.000000	0.05858	0.023000	0.16930	0.604000	0.37047	-0.302000	0.08221	-0.373000	0.07979	0.655000	0.94253	CGA		0.557	MAT1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049070.1	NM_000429		6	67	0	0	0	1	0	6	67					A	82034334	G	A	82034334	4	1	233	1	0	0	0	0	0	1	0	0	9329	1095	38	1	168	1	MAT1A	10	82034334	Nonsense_Mutation	SNP	G	TCGA-HC-8260-01A-11D-2260-08	11701746	82034334	53500413	8	10855											
ATM	472	broad.mit.edu	37	chr11	108205765	108205765	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aagcagaatttcgcttagcaGgaggtgtaaatttaccaaaa	16	10	9	6	1	0	1	0	0	0	1	1	2	0	2	1	2	3	4	1	2	8	5			TCGA-HC-8260-01A-11D-2260-08	TCGA-HC-8260-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac240fae-de3a-4831-af2d-0047fca54825	16d78baa-531a-4ec3-a6fa-d68143626080	g.chr11:108205765G>A	ENST00000452508.2	+	56	8269	c.8080G>A	c.(8080-8082)Gga>Aga	p.G2694R	C11orf65_ENST00000525729.1_Intron|ATM_ENST00000278616.4_Missense_Mutation_p.G2694R			Q13315	ATM_HUMAN	ATM serine/threonine kinase	2694					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|DNA damage induced protein phosphorylation (GO:0006975)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|heart development (GO:0007507)|histone mRNA catabolic process (GO:0071044)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|lipoprotein catabolic process (GO:0042159)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of B cell proliferation (GO:0030889)|neuron apoptotic process (GO:0051402)|oocyte development (GO:0048599)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of neuron apoptotic process (GO:0043525)|pre-B cell allelic exclusion (GO:0002331)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reciprocal meiotic recombination (GO:0007131)|replicative senescence (GO:0090399)|response to hypoxia (GO:0001666)|response to ionizing radiation (GO:0010212)|signal transduction (GO:0007165)|signal transduction involved in mitotic G2 DNA damage checkpoint (GO:0072434)|somitogenesis (GO:0001756)|telomere maintenance (GO:0000723)	cytoplasmic vesicle (GO:0031410)|nucleoplasm (GO:0005654)|spindle (GO:0005819)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|histone serine kinase activity (GO:0035174)|protein complex binding (GO:0032403)|protein dimerization activity (GO:0046983)|protein N-terminus binding (GO:0047485)|protein serine/threonine kinase activity (GO:0004674)	p.G2695delG(1)		NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	Caffeine(DB00201)	TCGCTTAGCAGGAGGTGTAAA	0.398			"D, Mis, N, F, S"		T-PLL	"leukemia, lymphoma, medulloblastoma, glioma"		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)																												ENST00000278616.4			yes	Rec	yes	Ataxia-telangiectasia	11	11q22.3	472	"D, Mis, N, F, S"	ataxia telangiectasia mutated			"L, O"		"leukemia, lymphoma, medulloblastoma, glioma"	T-PLL		1	Deletion - In frame(1)	p.G2695delG(1)	large_intestine(1)	NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448						c.(8080-8082)Gga>Aga	Genes defective in diseases associated with sensitivity to DNA damaging agents	ataxia telangiectasia mutated							100	98	99					11																	108205765		2201	4298	6499	SO:0001583	missense	472	Ataxia Telangiectasia	Familial Cancer Database	AT, Louis-Bar syndrome	cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding	g.chr11:108205765G>A	AB209133	CCDS31669.1	11q22-q23	2014-09-17	2014-06-17		ENSG00000149311	ENSG00000149311			795	protein-coding gene	gene with protein product	"TEL1, telomere maintenance 1, homolog (S. cerevisiae)"	607585	"ataxia telangiectasia mutated (includes complementation groups A, C and D)", "ataxia telangiectasia mutated"	ATA, ATDC, ATC, ATD			Standard	XM_005271561		Approved	TEL1, TELO1	uc001pkb.1	Q13315	OTTHUMG00000166480	ENST00000452508.2:c.8080G>A	11.37:g.108205765G>A	ENSP00000388058:p.Gly2694Arg	TSP Lung(14;0.12)				C11orf65_ENST00000525729.1_Intron|ATM_ENST00000452508.2_Missense_Mutation_p.G2694R	p.G2694R	NM_000051.3	NP_000042.3	Q13315	ATM_HUMAN		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	55	8465	+		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)	2694					B2RNX5|O15429|Q12758|Q16551|Q93007|Q9NP02|Q9UCX7	Missense_Mutation	SNP	ENST00000452508.2	37	c.8080G>A	CCDS31669.1	.	.	.	.	.	.	.	.	.	.	G	35	5.494582	0.96339	.	.	ENSG00000149311	ENST00000278616;ENST00000452508	D;D	0.94330	-3.4;-3.4	5.67	5.67	0.87782	Protein kinase-like domain (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.96448	0.8841	M	0.67397	2.05	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96537	0.9397	10	0.87932	D	0	.	19.7775	0.96400	0.0:0.0:1.0:0.0	.	2694	Q13315	ATM_HUMAN	R	2694	ENSP00000278616:G2694R;ENSP00000388058:G2694R	ENSP00000278616:G2694R	G	+	1	0	ATM	107710975	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.107000	0.94261	2.680000	0.91292	0.655000	0.94253	GGA		0.398	ATM-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389938.1	NM_000051		6	23	0	0	0	1	0	6	23					A	108205765	G	A	108205765	3	1	233	1	0	0	0	0	1	0	0	0	1109	1001	35	3	8294	3	ATM	11	108205765	Missense_Mutation	SNP	G	TCGA-HC-8260-01A-11D-2260-08		108205765	26800751	9	10856											
BAHD1	22893	broad.mit.edu	37	chr15	40754435	40754435	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctcgccgccgccgtcgccGccgcactaatggctgggtac	4	6	12	19	7	0	0	0	0	0	0	2	0	0	0	6	2	1	3	6	2	2	2	rs143007309		TCGA-HC-8260-01A-11D-2260-08	TCGA-HC-8260-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac240fae-de3a-4831-af2d-0047fca54825	16d78baa-531a-4ec3-a6fa-d68143626080	g.chr15:40754435G>A	ENST00000416165.1	+	3	1828	c.1757G>A	c.(1756-1758)cGc>cAc	p.R586H	RP11-64K12.8_ENST00000559730.1_RNA|BAHD1_ENST00000560846.1_Missense_Mutation_p.R586H|BAHD1_ENST00000561234.1_Missense_Mutation_p.R585H	NM_014952.3	NP_055767.3	Q8TBE0	BAHD1_HUMAN	bromo adjacent homology domain containing 1	586	Arg-rich.				heterochromatin assembly (GO:0031507)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	chromatin silencing complex (GO:0005677)|chromosome (GO:0005694)	chromatin binding (GO:0003682)			NS(1)|endometrium(6)|kidney(3)|large_intestine(3)|lung(10)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	28		all_cancers(109;8.28e-19)|all_epithelial(112;2.64e-15)|Lung NSC(122;5.14e-11)|all_lung(180;1.27e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.46e-06)|BRCA - Breast invasive adenocarcinoma(123;0.08)		CGCCGTCGCCGCCGCACTAAT	0.647																																						ENST00000561234.1																			0				NS(1)|endometrium(6)|kidney(3)|large_intestine(3)|lung(10)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	28						c.(1753-1755)cGc>cAc		bromo adjacent homology domain containing 1		T	HIS/ARG	2,4286		0,2,2142	70	81	77		1757	4.8	1	15	dbSNP_134	77	0,8406		0,0,4203	yes	missense	BAHD1	NM_014952.3	29	0,2,6345	AA,AG,GG		0.0,0.0466,0.0158	probably-damaging	586/781	40754435	2,12692	2144	4203	6347	SO:0001583	missense	22893				heterochromatin formation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromatin silencing complex|chromosome	chromatin binding|DNA binding|protein binding	g.chr15:40754435G>A	AL833923	CCDS10058.1, CCDS73705.1	15q14	2005-11-10			ENSG00000140320	ENSG00000140320			29153	protein-coding gene	gene with protein product		613880				10231032	Standard	XM_005254229		Approved	KIAA0945	uc001zlu.2	Q8TBE0	OTTHUMG00000129982	ENST00000416165.1:c.1757G>A	15.37:g.40754435G>A	ENSP00000396976:p.Arg586His					BAHD1_ENST00000560846.1_Missense_Mutation_p.R586H|BAHD1_ENST00000416165.1_Missense_Mutation_p.R586H	p.R585H			Q8TBE0	BAHD1_HUMAN		GBM - Glioblastoma multiforme(113;3.46e-06)|BRCA - Breast invasive adenocarcinoma(123;0.08)	3	2013	+		all_cancers(109;8.28e-19)|all_epithelial(112;2.64e-15)|Lung NSC(122;5.14e-11)|all_lung(180;1.27e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)	586			Arg-rich.		Q8NDF7|Q9Y2F4	Missense_Mutation	SNP	ENST00000416165.1	37	c.1754G>A	CCDS10058.1	.	.	.	.	.	.	.	.	.	.	g	18.60	3.659474	0.67586	4.66E-4	0.0	ENSG00000140320	ENST00000416165	T	0.23552	1.9	5.74	4.83	0.62350	.	0.058627	0.64402	D	0.000002	T	0.39708	0.1088	L	0.29908	0.895	0.48975	D	0.999736	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.69824	0.966;0.925;0.966	T	0.35076	-0.9803	10	0.72032	D	0.01	-13.9515	16.3667	0.83331	0.0:0.0:0.8669:0.133	.	586;586;585	Q8TBE0-3;Q8TBE0;Q8TBE0-2	.;BAHD1_HUMAN;.	H	586	ENSP00000396976:R586H	ENSP00000396976:R586H	R	+	2	0	BAHD1	38541727	0.997000	0.39634	1.000000	0.80357	0.443000	0.32047	5.323000	0.65858	1.460000	0.47911	-0.196000	0.12772	CGC		0.647	BAHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252248.1	NM_014952		4	95	0	0	0	1	0	4	95					A	40754435	G	A	40754435	3	1	233	1	0	0	0	0	1	0	0	0	1297	1087	38	1	1763	1	BAHD1	15	40754435	Missense_Mutation	SNP	G	TCGA-HC-8260-01A-11D-2260-08		40754435	61776957	10	10857											
PLCG2	5336	broad.mit.edu	37	chr16	81965227	81965227	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctttgagtggtttcagagcAtccgagagatcacctggaag	10	11	12	8	1	3	3	2	1	1	2	4	6	4	4	2	2	1	2	2	2	1	2			TCGA-HC-8260-01A-11D-2260-08	TCGA-HC-8260-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac240fae-de3a-4831-af2d-0047fca54825	16d78baa-531a-4ec3-a6fa-d68143626080	g.chr16:81965227A>G	ENST00000359376.3	+	25	2921	c.2707A>G	c.(2707-2709)Atc>Gtc	p.I903V		NM_002661.3	NP_002652.2	P16885	PLCG2_HUMAN	phospholipase C, gamma 2 (phosphatidylinositol-specific)	903					B cell differentiation (GO:0030183)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|calcium-mediated signaling (GO:0019722)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|inositol phosphate metabolic process (GO:0043647)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid catabolic process (GO:0009395)|platelet activation (GO:0030168)|release of sequestered calcium ion into cytosol (GO:0051209)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	58						GTTTCAGAGCATCCGAGAGAT	0.577																																						ENST00000359376.3																			0				NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	58						c.(2707-2709)Atc>Gtc		phospholipase C, gamma 2 (phosphatidylinositol-specific)							80	85	83					16																	81965227		1965	4151	6116	SO:0001583	missense	5336				intracellular signal transduction|phospholipid catabolic process|platelet activation	plasma membrane	phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity	g.chr16:81965227A>G		CCDS42204.1	16q24.1	2014-09-17				ENSG00000197943	3.1.4.11	"SH2 domain containing"	9066	protein-coding gene	gene with protein product		600220				7835906	Standard	XR_248240		Approved		uc002fgt.3	P16885		ENST00000359376.3:c.2707A>G	16.37:g.81965227A>G	ENSP00000352336:p.Ile903Val						p.I903V	NM_002661.3	NP_002652.2	P16885	PLCG2_HUMAN			25	2921	+			903					D3DUL3|Q3ZTS2|Q59H45|Q969T5	Missense_Mutation	SNP	ENST00000359376.3	37	c.2707A>G	CCDS42204.1	.	.	.	.	.	.	.	.	.	.	A	14.65	2.598871	0.46318	.	.	ENSG00000197943	ENST00000359376	T	0.52057	0.68	5.54	5.54	0.83059	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (1);Pleckstrin homology-type (1);Pleckstrin homology domain (1);	0.195766	0.53938	D	0.000044	T	0.34106	0.0886	L	0.28115	0.83	0.43907	D	0.996548	B	0.06786	0.001	B	0.06405	0.002	T	0.14144	-1.0483	10	0.45353	T	0.12	.	9.9448	0.41602	0.8795:0.0:0.1205:0.0	.	903	P16885	PLCG2_HUMAN	V	903	ENSP00000352336:I903V	ENSP00000352336:I903V	I	+	1	0	PLCG2	80522728	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.757000	0.38400	2.089000	0.63090	0.533000	0.62120	ATC		0.577	PLCG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432429.1			5	61	0	0	0	1	0	5	61					G	81965227	A	G	81965227	3	3	233	1	0	0	0	0	1	0	0	0	12036	217	8	4	2801	4	PLCG2	16	81965227	Missense_Mutation	SNP	A	TCGA-HC-8260-01A-11D-2260-08		81965227	8389526	11	10858											
ZCCHC14	23174	broad.mit.edu	37	chr16	87445898	87445898	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tggctgtgtacagagcagtcCgggggtttattattgcaggg	7	12	16	6	1	0	1	0	0	0	1	1	1	1	1	1	4	3	5	1	4	3	5			TCGA-HC-8260-01A-11D-2260-08	TCGA-HC-8260-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac240fae-de3a-4831-af2d-0047fca54825	16d78baa-531a-4ec3-a6fa-d68143626080	g.chr16:87445898C>A	ENST00000268616.4	-	12	2235	c.2018G>T	c.(2017-2019)cGg>cTg	p.R673L		NM_015144.2	NP_055959.1	Q8WYQ9	ZCH14_HUMAN	zinc finger, CCHC domain containing 14	673							nucleic acid binding (GO:0003676)|phosphatidylinositol binding (GO:0035091)|zinc ion binding (GO:0008270)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	36				BRCA - Breast invasive adenocarcinoma(80;0.0285)		CAGAGCAGTCCGGGGGTTTAT	0.507																																						ENST00000268616.4																			0				breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	36						c.(2017-2019)cGg>cTg		zinc finger, CCHC domain containing 14							77	93	87					16																	87445898		2196	4289	6485	SO:0001583	missense	23174				cell communication		nucleic acid binding|phosphatidylinositol binding|zinc ion binding	g.chr16:87445898C>A	AB011151	CCDS10961.1	16q24.2	2013-01-10			ENSG00000140948	ENSG00000140948		"Zinc fingers, CCHC domain containing", "Sterile alpha motif (SAM) domain containing"	24134	protein-coding gene	gene with protein product						9628581	Standard	XM_005255858		Approved	BDG29, MGC14139	uc002fjz.1	Q8WYQ9	OTTHUMG00000137655	ENST00000268616.4:c.2018G>T	16.37:g.87445898C>A	ENSP00000268616:p.Arg673Leu						p.R673L	NM_015144.2	NP_055959.1	Q8WYQ9	ZCH14_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0285)	12	2235	-			673					D3DUN1|O60324|Q3MJD8|Q9UFP0	Missense_Mutation	SNP	ENST00000268616.4	37	c.2018G>T	CCDS10961.1	.	.	.	.	.	.	.	.	.	.	C	10.64	1.407083	0.25378	.	.	ENSG00000140948	ENST00000268616	T	0.20738	2.05	5.59	3.63	0.41609	.	0.130335	0.49916	D	0.000126	T	0.26666	0.0652	N	0.14661	0.345	0.33721	D	0.617003	D;D	0.71674	0.998;0.997	D;D	0.80764	0.994;0.987	T	0.35748	-0.9776	10	0.46703	T	0.11	-25.3936	11.3208	0.49421	0.0:0.8042:0.1274:0.0684	.	673;673	Q8WYQ9-2;Q8WYQ9	.;ZCH14_HUMAN	L	673	ENSP00000268616:R673L	ENSP00000268616:R673L	R	-	2	0	ZCCHC14	86003399	1.000000	0.71417	1.000000	0.80357	0.012000	0.07955	4.554000	0.60760	0.718000	0.32166	-1.087000	0.02190	CGG		0.507	ZCCHC14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269107.1	NM_015144		9	73	1	0	6.40141e-05	1	6.87559e-05	9	73					A	87445898	C	A	87445898	3	1	233	1	0	0	0	0	1	0	0	0	17580	652	23	5	839	5	ZCCHC14	16	87445898	Missense_Mutation	SNP	C	TCGA-HC-8260-01A-11D-2260-08	5480671	87445898	2908855	12	10859											
TSR1	55720	broad.mit.edu	37	chr17	2236286	2236286	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctccataaaatcctcatgtTccatatcatcatattcatat	13	15	1	12	0	4	0	4	0	0	0	7	0	7	0	4	0	0	1	4	0	5	6			TCGA-HC-8260-01A-11D-2260-08	TCGA-HC-8260-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac240fae-de3a-4831-af2d-0047fca54825	16d78baa-531a-4ec3-a6fa-d68143626080	g.chr17:2236286T>C	ENST00000301364.5	-	7	2353	c.1274A>G	c.(1273-1275)gAa>gGa	p.E425G	SNORD91A_ENST00000390861.1_RNA	NM_018128.4	NP_060598.3	Q2NL82	TSR1_HUMAN	TSR1, 20S rRNA accumulation, homolog (S. cerevisiae)	425	Glu-rich.				ribosome assembly (GO:0042255)	nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)			autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	20						ATCCTCATGTTCCATATCATC	0.448																																						ENST00000301364.4																			0				autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	20						c.(1273-1275)gAa>gGa		TSR1, 20S rRNA accumulation, homolog (S. cerevisiae)							178	161	167					17																	2236286		2203	4300	6503	SO:0001583	missense	55720				ribosome assembly	nucleolus	protein binding	g.chr17:2236286T>C	AK026565	CCDS32525.1	17p13.3	2006-04-20	2006-04-20			ENSG00000167721			25542	protein-coding gene	gene with protein product		611214	"TSR1, 20S rRNA accumulation, homolog (yeast)"			10718198	Standard	NM_018128		Approved	FLJ10534	uc002fuj.3	Q2NL82		ENST00000301364.5:c.1274A>G	17.37:g.2236286T>C	ENSP00000301364:p.Glu425Gly						p.E425G	NM_018128.4	NP_060598.3	Q2NL82	TSR1_HUMAN			7	2353	-			425			Glu-rich.		Q8WUY5|Q9NVT0|Q9P2E6	Missense_Mutation	SNP	ENST00000301364.5	37	c.1274A>G	CCDS32525.1	.	.	.	.	.	.	.	.	.	.	T	11.57	1.676652	0.29783	.	.	ENSG00000167721	ENST00000301364	T	0.13538	2.58	5.02	3.89	0.44902	.	0.803553	0.11541	N	0.553772	T	0.13286	0.0322	L	0.45352	1.415	0.09310	N	1	B	0.18863	0.031	B	0.18263	0.021	T	0.11203	-1.0597	10	0.30078	T	0.28	-8.6214	11.0598	0.47940	0.0:0.0:0.1549:0.8451	.	425	Q2NL82	TSR1_HUMAN	G	425	ENSP00000301364:E425G	ENSP00000301364:E425G	E	-	2	0	TSR1	2183036	0.981000	0.34729	0.381000	0.26106	0.562000	0.35680	4.198000	0.58419	2.101000	0.63845	0.528000	0.53228	GAA		0.448	TSR1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438180.2	NM_018128		5	28	0	0	0	1	0	5	28					C	2236286	T	C	2236286	3	2	233	1	0	0	0	0	1	0	0	0	16661	1783	62	4	1176	4	TSR1	17	2236286	Missense_Mutation	SNP	T	TCGA-HC-8260-01A-11D-2260-08		2236286	78958924	13	10860											
RUNDC3A	10900	broad.mit.edu	37	chr17	42390845	42390845	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atgtcagaatacatcaccacGgctctgcgtgacacccggac	11	7	9	14	3	3	2	2	1	1	1	3	3	3	3	2	2	2	1	2	2	2	1			TCGA-HC-8260-01A-11D-2260-08	TCGA-HC-8260-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac240fae-de3a-4831-af2d-0047fca54825	16d78baa-531a-4ec3-a6fa-d68143626080	g.chr17:42390845G>A	ENST00000426726.3	+	4	706	c.432G>A	c.(430-432)acG>acA	p.T144T	RUNDC3A_ENST00000590941.1_Silent_p.T139T|RUNDC3A_ENST00000225441.7_Silent_p.T144T|AC003102.3_ENST00000588097.1_RNA	NM_001144825.1	NP_001138297.1	Q59EK9	RUN3A_HUMAN	RUN domain containing 3A	144	Interaction with RAP2A. {ECO:0000250}.|RUN. {ECO:0000255|PROSITE- ProRule:PRU00178}.				positive regulation of cGMP biosynthetic process (GO:0030828)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	guanylate cyclase activator activity (GO:0030250)|small GTPase regulator activity (GO:0005083)			large_intestine(1)|lung(1)|ovary(2)	4		Prostate(33;0.0233)		BRCA - Breast invasive adenocarcinoma(366;0.189)		ACATCACCACGGCTCTGCGTG	0.567																																					Pancreas(82;1061 1416 11136 20771 23901)	ENST00000426726.3																			0				large_intestine(1)|lung(1)|ovary(2)	4						c.(430-432)acG>acA		RUN domain containing 3A							62	67	65					17																	42390845		2101	4226	6327	SO:0001819	synonymous_variant	10900				small GTPase mediated signal transduction		small GTPase regulator activity	g.chr17:42390845G>A	AF055026	CCDS45698.1, CCDS45699.1, CCDS59294.1	17q21.31	2008-02-05			ENSG00000108309	ENSG00000108309			16984	protein-coding gene	gene with protein product		605448				9523700	Standard	NM_006695		Approved	RPIP8, RAP2IP	uc002igl.4	Q59EK9	OTTHUMG00000169259	ENST00000426726.3:c.432G>A	17.37:g.42390845G>A						RUNDC3A_ENST00000225441.7_Silent_p.T144T|RUNDC3A_ENST00000590941.1_Silent_p.T139T|AC003102.3_ENST00000588097.1_RNA	p.T144T	NM_001144825.1	NP_001138297.1	Q59EK9	RUN3A_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.189)	4	706	+		Prostate(33;0.0233)	144			Interaction with RAP2A (By similarity).|RUN.		B2R974|O15483|O60651|Q7Z3S2|Q9UF50	Silent	SNP	ENST00000426726.3	37	c.432G>A	CCDS45698.1																																																																																				0.567	RUNDC3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403173.2	NM_006695		4	45	0	0	0	1	0	4	45					A	42390845	G	A	42390845	2	1	233	1	0	0	0	0	0	0	0	1	13744	1103	39	2		2	RUNDC3A	17	42390845	Silent	SNP	G	TCGA-HC-8260-01A-11D-2260-08	40154559	42390845	38804365	14	10861											
ENOSF1	55556	broad.mit.edu	37	chr18	697346	697346	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggtgggcgagggcattcacaGcacagacaactatttaaaaa	15	7	11	8	1	1	1	1	0	0	1	1	2	1	1	0	3	2	2	0	3	5	4			TCGA-HC-8260-01A-11D-2260-08	TCGA-HC-8260-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac240fae-de3a-4831-af2d-0047fca54825	16d78baa-531a-4ec3-a6fa-d68143626080	g.chr18:697346G>A	ENST00000251101.7	-	3	291	c.203C>T	c.(202-204)gCt>gTt	p.A68V	ENOSF1_ENST00000580982.1_Intron|ENOSF1_ENST00000340116.7_Missense_Mutation_p.A89V|ENOSF1_ENST00000383578.3_Intron|ENOSF1_ENST00000539164.1_Missense_Mutation_p.A68V	NM_017512.5	NP_059982.2	Q7L5Y1	ENOF1_HUMAN	enolase superfamily member 1	68					cellular amino acid catabolic process (GO:0009063)|cellular carbohydrate catabolic process (GO:0044275)	mitochondrion (GO:0005739)	isomerase activity (GO:0016853)|L-fuconate dehydratase activity (GO:0050023)|magnesium ion binding (GO:0000287)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)	10						GGCATTCACAGCACAGACAAC	0.428																																						ENST00000251101.7																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)	10						c.(202-204)gCt>gTt		enolase superfamily member 1							160	161	161					18																	697346		2203	4300	6503	SO:0001583	missense	55556				cellular amino acid catabolic process	mitochondrion	isomerase activity|metal ion binding	g.chr18:697346G>A	X67098	CCDS11822.1, CCDS11823.1, CCDS45821.1	18p11.32	2005-01-26			ENSG00000132199	ENSG00000132199			30365	protein-coding gene	gene with protein product		607427				14508106	Standard	NM_001126123		Approved	HSRTSBETA, rTS, TYMSAS	uc002kku.4	Q7L5Y1	OTTHUMG00000131470	ENST00000251101.7:c.203C>T	18.37:g.697346G>A	ENSP00000251101:p.Ala68Val					ENOSF1_ENST00000383578.3_Intron|ENOSF1_ENST00000580982.1_Intron|ENOSF1_ENST00000340116.7_Missense_Mutation_p.A89V|ENOSF1_ENST00000539164.1_Missense_Mutation_p.A68V	p.A68V	NM_017512.5	NP_059982.2	Q7L5Y1	ENOF1_HUMAN			3	291	-			68					A6NMP3|A8K9R5|B3KSL6|B3KXE4|D3DUH0|Q15407|Q15594|Q15595|Q6ZS08|Q9HAS5|Q9HAS6	Missense_Mutation	SNP	ENST00000251101.7	37	c.203C>T	CCDS11822.1	.	.	.	.	.	.	.	.	.	.	G	13.88	2.368243	0.42003	.	.	ENSG00000132199	ENST00000251101;ENST00000340116;ENST00000539164	T;T;T	0.52526	0.66;0.66;0.66	5.49	3.64	0.41730	Mandelate racemase/muconate lactonizing enzyme, N-terminal (1);	0.156546	0.56097	N	0.000028	T	0.62575	0.2439	M	0.79343	2.45	0.38593	D	0.950467	D;D;D	0.67145	0.996;0.987;0.996	P;P;P	0.61070	0.883;0.864;0.804	T	0.64807	-0.6320	10	0.41790	T	0.15	.	10.5505	0.45085	0.0748:0.1337:0.7915:0.0	.	89;113;68	A6NMP3;Q6ZS08;Q7L5Y1	.;.;ENOF1_HUMAN	V	68;89;68	ENSP00000251101:A68V;ENSP00000345974:A89V;ENSP00000446321:A68V	ENSP00000251101:A68V	A	-	2	0	ENOSF1	687346	1.000000	0.71417	0.999000	0.59377	0.957000	0.61999	4.871000	0.63042	0.644000	0.30656	0.650000	0.86243	GCT		0.428	ENOSF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254312.2	NM_017512		5	85	0	0	0	1	0	5	85					A	697346	G	A	697346	3	1	233	1	0	0	0	0	1	0	0	0	5125	971	34	3	1184	3	ENOSF1	18	697346	Missense_Mutation	SNP	G	TCGA-HC-8260-01A-11D-2260-08		697346	77379902	15	10862											
SBNO2	22904	broad.mit.edu	37	chr19	1114389	1114389	+	Frame_Shift_Del	DEL	G	G	-																															cgctgtctcgcacgccagccGgggggctttggccccgcgtc																										TCGA-HC-8260-01A-11D-2260-08	TCGA-HC-8260-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac240fae-de3a-4831-af2d-0047fca54825	16d78baa-531a-4ec3-a6fa-d68143626080	g.chr19:1114389delG	ENST00000361757.3	-	18	2155	c.1918delC	c.(1918-1920)cggfs	p.R640fs	SBNO2_ENST00000587024.1_Frame_Shift_Del_p.R630fs|SBNO2_ENST00000438103.2_Frame_Shift_Del_p.R583fs	NM_014963.2	NP_055778.2	Q9Y2G9	SBNO2_HUMAN	strawberry notch homolog 2 (Drosophila)	640					bone mineralization (GO:0030282)|bone trabecula morphogenesis (GO:0061430)|macrophage activation involved in immune response (GO:0002281)|negative regulation of transcription, DNA-templated (GO:0045892)|osteoclast fusion (GO:0072675)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of inflammatory response (GO:0050727)|transcription, DNA-templated (GO:0006351)					NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CACGCCAGCCGGGGGGCTTTG	0.697																																						ENST00000361757.3																			0				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						c.(1918-1920)ggfs		strawberry notch homolog 2 (Drosophila)							15	17	16					19																	1114389		2107	4176	6283	SO:0001589	frameshift_variant	22904				macrophage activation involved in immune response|negative regulation of transcription, DNA-dependent|regulation of inflammatory response|transcription, DNA-dependent			g.chr19:1114389delG	AK074102	CCDS45894.1, CCDS45895.1	19p13.3	2008-02-05	2006-10-06	2006-10-06		ENSG00000064932			29158	protein-coding gene	gene with protein product		615729	"KIAA0963"	KIAA0963		10231032	Standard	NM_014963		Approved	FLJ00173, Stno, Sno	uc002lrk.4	Q9Y2G9		ENST00000361757.3:c.1918delC	19.37:g.1114389delG	ENSP00000354733:p.Arg640fs					SBNO2_ENST00000438103.2_Frame_Shift_Del_p.R583fs|SBNO2_ENST00000587024.1_Frame_Shift_Del_p.R630fs	p.R640fs	NM_014963.2	NP_055778.2	Q9Y2G9	SBNO2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	18	2155	-		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)	640					A8K8P2|B3KWJ1|O75257|Q3KQX0|Q8TEM0	Frame_Shift_Del	DEL	ENST00000361757.3	37	c.1918delC	CCDS45894.1																																																																																				0.697	SBNO2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000458065.2	NM_014963		2	4						2	4	---	---	---	---	-	1114389	G	-	1114389	7	5	233	1	0	1	0	1	0	0	0	0	13863	1115	39	0	2242	0	SBNO2	19	1114389	Frame_Shift_Del	DEL	G	TCGA-HC-8260-01A-11D-2260-08		1114389	58014594	16	10863											
ATG4D	84971	broad.mit.edu	37	chr19	10663643	10663643	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaggaccacagcctggacgAcctctgctcccagctcgccc	7	6	9	19	2	2	0	1	0	1	0	4	3	3	2	5	2	3	2	5	2	0	0			TCGA-HC-8260-01A-11D-2260-08	TCGA-HC-8260-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac240fae-de3a-4831-af2d-0047fca54825	16d78baa-531a-4ec3-a6fa-d68143626080	g.chr19:10663643A>G	ENST00000309469.4	+	10	1498	c.1325A>G	c.(1324-1326)gAc>gGc	p.D442G	ATG4D_ENST00000540862.1_Missense_Mutation_p.D109G|RNU7-140P_ENST00000459546.1_RNA|MIR1238_ENST00000408483.1_RNA	NM_032885.4	NP_116274.3	Q86TL0	ATG4D_HUMAN	autophagy related 4D, cysteine peptidase	442					apoptotic process (GO:0006915)|autophagy (GO:0006914)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	cysteine-type endopeptidase activity (GO:0004197)			NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	19			Epithelial(33;9.2e-06)|all cancers(31;3.9e-05)			AGCCTGGACGACCTCTGCTCC	0.642																																						ENST00000309469.4																			0				NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	19						c.(1324-1326)gAc>gGc		autophagy related 4D, cysteine peptidase							75	66	69					19																	10663643		2203	4300	6503	SO:0001583	missense	84971				autophagy|protein transport	cytoplasm	cysteine-type endopeptidase activity	g.chr19:10663643A>G	AJ312332	CCDS12241.1	19p13.2	2014-02-12	2012-06-06	2005-09-11	ENSG00000130734	ENSG00000130734			20789	protein-coding gene	gene with protein product		611340	"AUT-like 4, cysteine endopeptidase (S. cerevisiae)", "APG4 autophagy 4 homolog D (S. cerevisiae)", "ATG4 autophagy related 4 homolog D (S. cerevisiae)"	AUTL4, APG4D		12446702	Standard	NM_032885		Approved	APG4-D	uc002mov.3	Q86TL0	OTTHUMG00000180582	ENST00000309469.4:c.1325A>G	19.37:g.10663643A>G	ENSP00000311318:p.Asp442Gly					ATG4D_ENST00000540862.1_Missense_Mutation_p.D109G	p.D442G	NM_032885.4	NP_116274.3	Q86TL0	ATG4D_HUMAN	Epithelial(33;9.2e-06)|all cancers(31;3.9e-05)		10	1498	+			442					Q969K0	Missense_Mutation	SNP	ENST00000309469.4	37	c.1325A>G	CCDS12241.1	.	.	.	.	.	.	.	.	.	.	A	12.21	1.868207	0.32977	.	.	ENSG00000130734	ENST00000309469;ENST00000540862	.	.	.	5.19	4.14	0.48551	.	1.045320	0.07391	N	0.889109	T	0.31071	0.0785	N	0.13098	0.295	0.32503	N	0.538584	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.33879	-0.9851	9	0.36615	T	0.2	-11.3571	6.1855	0.20495	0.7524:0.164:0.0836:0.0	.	379;442	B4DGM8;Q86TL0	.;ATG4D_HUMAN	G	442;109	.	ENSP00000311318:D442G	D	+	2	0	ATG4D	10524643	1.000000	0.71417	0.966000	0.40874	0.885000	0.51271	3.126000	0.50477	0.876000	0.35872	0.533000	0.62120	GAC		0.642	ATG4D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452022.1	NM_032885		3	61	0	0	0	1	0	3	61					G	10663643	A	G	10663643	3	3	233	1	0	0	0	0	1	0	0	0	1099	275	10	4	1363	4	ATG4D	19	10663643	Missense_Mutation	SNP	A	TCGA-HC-8260-01A-11D-2260-08	9549254	10663643	48465340	17	10864											
PADI4	23569	broad.mit.edu	37	chr1	17690079	17690079	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cccttcgggcccgtcatcaaCggccgctgctgcctggagga	5	7	13	16	4	2	0	2	0	0	0	3	2	2	2	4	4	3	2	4	4	1	1	rs143565531		TCGA-HC-8261-01A-11D-2260-08	TCGA-HC-8261-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	087237e9-564b-46b8-8f1d-8de3406314b1	e0965003-39bc-46d9-83a7-7df655bdbf56	g.chr1:17690079C>T	ENST00000375448.4	+	16	1847	c.1821C>T	c.(1819-1821)aaC>aaT	p.N607N		NM_012387.2	NP_036519.2	Q9UM07	PADI4_HUMAN	peptidyl arginine deiminase, type IV	607					cellular protein modification process (GO:0006464)|chromatin modification (GO:0016568)|chromatin remodeling (GO:0006338)|histone citrullination (GO:0036414)|histone H3-R26 citrullination (GO:0036413)|innate immune response (GO:0045087)|nucleosome assembly (GO:0006334)|protein citrullination (GO:0018101)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	arginine deiminase activity (GO:0016990)|calcium ion binding (GO:0005509)|protein-arginine deiminase activity (GO:0004668)			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(2)|urinary_tract(3)	26		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000338)|Lung NSC(340;0.00042)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00537)|BRCA - Breast invasive adenocarcinoma(304;8.54e-06)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(64;0.000223)|KIRC - Kidney renal clear cell carcinoma(64;0.00313)|STAD - Stomach adenocarcinoma(196;0.00707)|READ - Rectum adenocarcinoma(331;0.0689)|Lung(427;0.199)	L-Citrulline(DB00155)	CCGTCATCAACGGCCGCTGCT	0.612													C|||	1	0.000199681	0	0	5008	,	,		18574	0		0.001	False		,,,				2504	0					ENST00000375448.4																			0				autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(2)|urinary_tract(3)	26						c.(1819-1821)aaC>aaT		peptidyl arginine deiminase, type IV	L-Citrulline(DB00155)	C		0,4406		0,0,2203	46	43	44		1821	-6.2	0.4	1	dbSNP_134	44	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	PADI4	NM_012387.2		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		607/664	17690079	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	23569				chromatin modification|peptidyl-citrulline biosynthetic process from peptidyl-arginine|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calcium ion binding|protein-arginine deiminase activity	g.chr1:17690079C>T	AB017919	CCDS180.1	1p36.13	2014-06-06	2003-02-12		ENSG00000159339	ENSG00000159339	3.5.3.15	"Peptidyl arginine deiminases"	18368	protein-coding gene	gene with protein product		605347	"peptidyl arginine deiminase, type V"	PADI5		10488123	Standard	NM_012387		Approved	PAD, PDI5, PDI4	uc001baj.2	Q9UM07	OTTHUMG00000002371	ENST00000375448.4:c.1821C>T	1.37:g.17690079C>T							p.N607N	NM_012387.2	NP_036519.2	Q9UM07	PADI4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00537)|BRCA - Breast invasive adenocarcinoma(304;8.54e-06)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(64;0.000223)|KIRC - Kidney renal clear cell carcinoma(64;0.00313)|STAD - Stomach adenocarcinoma(196;0.00707)|READ - Rectum adenocarcinoma(331;0.0689)|Lung(427;0.199)	16	1847	+		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000338)|Lung NSC(340;0.00042)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)	607					A8K392|B2RBW0|Q5VTZ8|Q70SX4	Silent	SNP	ENST00000375448.4	37	c.1821C>T	CCDS180.1																																																																																				0.612	PADI4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006799.1	NM_012387		16	20	0	0	0	1	0	16	20					T	17690079	C	T	17690079	2	4	234	1	0	0	0	0	0	0	0	1	11380	535	19	1		1	PADI4	1	17690079	Silent	SNP	C	TCGA-HC-8261-01A-11D-2260-08		17690079	231560542	1	10865											
HTR1D	3352	broad.mit.edu	37	chr1	23520453	23520453	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgggcattaccaagatggaaAccaagaggtcggtggtggcc	11	7	15	8	1	0	2	0	0	0	2	1	3	0	3	3	6	2	1	3	6	4	1			TCGA-HC-8261-01A-11D-2260-08	TCGA-HC-8261-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	087237e9-564b-46b8-8f1d-8de3406314b1	e0965003-39bc-46d9-83a7-7df655bdbf56	g.chr1:23520453A>G	ENST00000374619.1	-	1	769	c.260T>C	c.(259-261)gTt>gCt	p.V87A	HTR1D_ENST00000314113.3_Missense_Mutation_p.V87A	NM_000864.4	NP_000855.1	P28221	5HT1D_HUMAN	5-hydroxytryptamine (serotonin) receptor 1D, G protein-coupled	87					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|intestine smooth muscle contraction (GO:0014827)|regulation of behavior (GO:0050795)|regulation of locomotion (GO:0040012)|response to toxic substance (GO:0009636)|serotonin receptor signaling pathway (GO:0007210)|synaptic transmission (GO:0007268)|vasoconstriction (GO:0042310)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)			NS(1)|large_intestine(3)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	9		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.000779)|all_lung(284;0.00135)|Breast(348;0.0385)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0561)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;4.69e-27)|Colorectal(126;4.86e-08)|COAD - Colon adenocarcinoma(152;2.86e-06)|GBM - Glioblastoma multiforme(114;0.00012)|BRCA - Breast invasive adenocarcinoma(304;0.000949)|KIRC - Kidney renal clear cell carcinoma(1967;0.00122)|STAD - Stomach adenocarcinoma(196;0.0123)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.083)|LUSC - Lung squamous cell carcinoma(448;0.185)	Almotriptan(DB00918)|Amitriptyline(DB00321)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Clozapine(DB00363)|Dihydroergotamine(DB00320)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Frovatriptan(DB00998)|Ketamine(DB01221)|Lisuride(DB00589)|Loxapine(DB00408)|Naratriptan(DB00952)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Pramipexole(DB00413)|Quetiapine(DB01224)|Risperidone(DB00734)|Rizatriptan(DB00953)|Ropinirole(DB00268)|Sumatriptan(DB00669)|Trimipramine(DB00726)|Yohimbine(DB01392)|Ziprasidone(DB00246)|Zolmitriptan(DB00315)	CAAGATGGAAACCAAGAGGTC	0.532																																						ENST00000374619.1																			0				NS(1)|large_intestine(3)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	9						c.(259-261)gTt>gCt		5-hydroxytryptamine (serotonin) receptor 1D, G protein-coupled	Almotriptan(DB00918)|Dihydroergotamine(DB00320)|Eletriptan(DB00216)|Ergotamine(DB00696)|Frovatriptan(DB00998)|Naratriptan(DB00952)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Tegaserod(DB01079)|Ziprasidone(DB00246)|Zolmitriptan(DB00315)						258	232	241					1																	23520453		2203	4300	6503	SO:0001583	missense	3352				G-protein signaling, coupled to cyclic nucleotide second messenger|intestine smooth muscle contraction|synaptic transmission	integral to plasma membrane	serotonin receptor activity	g.chr1:23520453A>G	M89955	CCDS231.1	1p36.3-p34.3	2012-08-08	2012-02-03		ENSG00000179546	ENSG00000179546		"5-HT (serotonin) receptors", "GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"	5289	protein-coding gene	gene with protein product		182133	"5-hydroxytryptamine (serotonin) receptor 1D"	HTRL		2541503, 1662665	Standard	NM_000864		Approved	RDC4, HT1DA, 5-HT1D	uc001bgn.3	P28221	OTTHUMG00000003235	ENST00000374619.1:c.260T>C	1.37:g.23520453A>G	ENSP00000363748:p.Val87Ala					HTR1D_ENST00000314113.3_Missense_Mutation_p.V87A	p.V87A	NM_000864.4	NP_000855.1	P28221	5HT1D_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;4.69e-27)|Colorectal(126;4.86e-08)|COAD - Colon adenocarcinoma(152;2.86e-06)|GBM - Glioblastoma multiforme(114;0.00012)|BRCA - Breast invasive adenocarcinoma(304;0.000949)|KIRC - Kidney renal clear cell carcinoma(1967;0.00122)|STAD - Stomach adenocarcinoma(196;0.0123)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.083)|LUSC - Lung squamous cell carcinoma(448;0.185)	1	769	-		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.000779)|all_lung(284;0.00135)|Breast(348;0.0385)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0561)	87						Missense_Mutation	SNP	ENST00000374619.1	37	c.260T>C	CCDS231.1	.	.	.	.	.	.	.	.	.	.	A	23.2	4.391447	0.83011	.	.	ENSG00000179546	ENST00000314113;ENST00000374619	T;T	0.74526	-0.85;-0.85	5.6	5.6	0.85130	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	D	0.90745	0.7095	H	0.96833	3.89	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.93675	0.6993	10	0.87932	D	0	.	14.967	0.71201	1.0:0.0:0.0:0.0	.	87	P28221	5HT1D_HUMAN	A	87	ENSP00000313661:V87A;ENSP00000363748:V87A	ENSP00000313661:V87A	V	-	2	0	HTR1D	23393040	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	9.339000	0.96797	2.140000	0.66376	0.533000	0.62120	GTT		0.532	HTR1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008924.1	NM_000864		45	145	0	0	0	1	0	45	145					G	23520453	A	G	23520453	3	3	234	1	0	0	0	0	1	0	0	0	7438	43	2	4	877	4	HTR1D	1	23520453	Missense_Mutation	SNP	A	TCGA-HC-8261-01A-11D-2260-08	5830374	23520453	225730168	2	10866											
NCK2	8440	broad.mit.edu	37	chr2	106497794	106497794	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtctccacaggcctcggcaaGacgcgcaggaagaccagcgc	10	3	13	15	4	1	2	0	0	1	2	3	3	1	3	3	3	1	2	3	3	2	0			TCGA-HC-8261-01A-11D-2260-08	TCGA-HC-8261-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	087237e9-564b-46b8-8f1d-8de3406314b1	e0965003-39bc-46d9-83a7-7df655bdbf56	g.chr2:106497794G>A	ENST00000233154.4	+	4	679	c.237G>A	c.(235-237)aaG>aaA	p.K79K	NCK2_ENST00000393349.2_Silent_p.K79K|NCK2_ENST00000451463.2_Intron|NCK2_ENST00000522586.1_Intron	NM_003581.4	NP_003572.2	O43639	NCK2_HUMAN	NCK adaptor protein 2	79					actin filament organization (GO:0007015)|axon guidance (GO:0007411)|cell migration (GO:0016477)|epidermal growth factor receptor signaling pathway (GO:0007173)|lamellipodium assembly (GO:0030032)|negative regulation of cell proliferation (GO:0008285)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of epidermal growth factor-activated receptor activity (GO:0007176)|regulation of translation (GO:0006417)|signal complex assembly (GO:0007172)|signal transduction (GO:0007165)|T cell activation (GO:0042110)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|vesicle membrane (GO:0012506)	cytoskeletal adaptor activity (GO:0008093)|receptor signaling complex scaffold activity (GO:0030159)			endometrium(1)|lung(3)|ovary(1)	5						GCCTCGGCAAGACGCGCAGGA	0.672																																						ENST00000233154.4																			0				endometrium(1)|lung(3)|ovary(1)	5						c.(235-237)aaG>aaA		NCK adaptor protein 2							22	24	24					2																	106497794		2195	4282	6477	SO:0001819	synonymous_variant	8440				axon guidance|epidermal growth factor receptor signaling pathway|negative regulation of cell proliferation|positive regulation of actin filament polymerization|positive regulation of T cell proliferation|regulation of epidermal growth factor receptor activity|regulation of translation|signal complex assembly|T cell activation	cytosol|endoplasmic reticulum	cytoskeletal adaptor activity|receptor signaling complex scaffold activity	g.chr2:106497794G>A	AF043119	CCDS33266.1	2q12	2013-02-14			ENSG00000071051	ENSG00000071051		"SH2 domain containing"	7665	protein-coding gene	gene with protein product		604930				9737977, 16752908	Standard	NM_001004720		Approved	NCKbeta	uc002tdi.3	O43639	OTTHUMG00000153116	ENST00000233154.4:c.237G>A	2.37:g.106497794G>A						NCK2_ENST00000393349.2_Silent_p.K79K|NCK2_ENST00000451463.2_Intron|NCK2_ENST00000522586.1_Intron	p.K79K	NM_003581.4	NP_003572.2	O43639	NCK2_HUMAN			4	679	+			79					D3DVK1|Q9BWN9|Q9UIC3	Silent	SNP	ENST00000233154.4	37	c.237G>A	CCDS33266.1																																																																																				0.672	NCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329634.1	NM_003581		10	28	0	0	0	1	0	10	28					A	106497794	G	A	106497794	2	1	234	1	0	0	0	0	0	0	0	1	10220	933	33	3		3	NCK2	2	106497794	Silent	SNP	G	TCGA-HC-8261-01A-11D-2260-08		106497794	136701579	3	10867											
ZNF142	7701	broad.mit.edu	37	chr2	219507893	219507893	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gtgagtcctcagagcccgttCctgctggcagctaaagggac	8	8	13	12	1	1	2	1	1	0	1	3	3	3	3	3	2	3	4	3	2	2	2			TCGA-HC-8261-01A-11D-2260-08	TCGA-HC-8261-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	087237e9-564b-46b8-8f1d-8de3406314b1	e0965003-39bc-46d9-83a7-7df655bdbf56	g.chr2:219507893C>A	ENST00000449707.1	-	8	3767	c.3346G>T	c.(3346-3348)Gaa>Taa	p.E1116*	ZNF142_ENST00000411696.2_Nonsense_Mutation_p.E1116*	NM_001105537.1	NP_001099007.1	P52746	ZN142_HUMAN	zinc finger protein 142	1116					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(7)|endometrium(7)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38		Renal(207;0.0474)		Epithelial(149;5.21e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		AGAGCCCGTTCCTGCTGGCAG	0.602																																					Colon(170;867 1942 8995 15834 18053)	ENST00000411696.2																			0				breast(7)|endometrium(7)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38						c.(3346-3348)Gaa>Taa		zinc finger protein 142							52	59	57					2																	219507893		1974	4140	6114	SO:0001587	stop_gained	7701				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr2:219507893C>A	U09849	CCDS42817.1	2q35	2013-01-08	2006-06-13		ENSG00000115568	ENSG00000115568		"Zinc fingers, C2H2-type"	12927	protein-coding gene	gene with protein product		604083	"zinc finger protein 142 (clone pHZ-49)"				Standard	NM_001105537		Approved	KIAA0236, pHZ-49	uc002vin.4	P52746	OTTHUMG00000154736	ENST00000449707.1:c.3346G>T	2.37:g.219507893C>A	ENSP00000408643:p.Glu1116*					ZNF142_ENST00000449707.1_Nonsense_Mutation_p.E1116*	p.E1116*			P52746	ZN142_HUMAN		Epithelial(149;5.21e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	7	4125	-		Renal(207;0.0474)	1116					Q92510	Nonsense_Mutation	SNP	ENST00000449707.1	37	c.3346G>T	CCDS42817.1	.	.	.	.	.	.	.	.	.	.	C	47	13.097775	0.99719	.	.	ENSG00000115568	ENST00000449707;ENST00000411696	.	.	.	4.79	4.79	0.61399	.	0.320078	0.34828	N	0.003644	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.08837	T	0.75	-17.1676	11.8323	0.52303	0.0:0.9194:0.0:0.0806	.	.	.	.	X	1116	.	ENSP00000398798:E1116X	E	-	1	0	ZNF142	219216137	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.911000	0.56378	2.651000	0.90000	0.563000	0.77884	GAA		0.602	ZNF142-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336833.1	NM_005081		5	67	1	0	0.000602214	1	0.000621034	5	67					A	219507893	C	A	219507893	4	1	234	1	0	0	0	0	0	1	0	0	17728	864	30	5	1729	5	ZNF142	2	219507893	Nonsense_Mutation	SNP	C	TCGA-HC-8261-01A-11D-2260-08	113010099	219507893	23691480	4	10868											
SPEG	10290	broad.mit.edu	37	chr2	220337707	220337707	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcgggagccagggtgggcaGccacagggctgcgtaagggg	7	4	21	9	2	0	0	0	0	0	0	0	1	0	1	2	6	4	3	2	6	1	1			TCGA-HC-8261-01A-11D-2260-08	TCGA-HC-8261-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	087237e9-564b-46b8-8f1d-8de3406314b1	e0965003-39bc-46d9-83a7-7df655bdbf56	g.chr2:220337707G>A	ENST00000312358.7	+	16	4168	c.4036G>A	c.(4036-4038)Gcc>Acc	p.A1346T	SPEG_ENST00000485813.1_3'UTR	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	1346	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cardiac muscle cell development (GO:0055013)|in utero embryonic development (GO:0001701)|muscle organ development (GO:0007517)|negative regulation of cell proliferation (GO:0008285)|respiratory system development (GO:0060541)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		AGGGTGGGCAGCCACAGGGCT	0.662																																						ENST00000312358.7																			0				breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100						c.(4036-4038)Gcc>Acc		SPEG complex locus							37	44	42					2																	220337707		2046	4188	6234	SO:0001583	missense	10290				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity	g.chr2:220337707G>A	BC006346	CCDS42824.1, CCDS54432.1	2q35	2013-01-11	2006-04-27	2006-04-27	ENSG00000072195	ENSG00000072195		"Immunoglobulin superfamily / I-set domain containing"	16901	protein-coding gene	gene with protein product		615950	"aortic preferentially expressed gene 1"	APEG1		8663449, 10973969	Standard	NM_005876		Approved	MGC12676, KIAA1297, SPEGalpha, SPEGbeta, BPEG	uc010fwg.3	Q15772	OTTHUMG00000058925	ENST00000312358.7:c.4036G>A	2.37:g.220337707G>A	ENSP00000311684:p.Ala1346Thr					SPEG_ENST00000485813.1_3'UTR	p.A1346T	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)	16	4168	+		Renal(207;0.0183)	1346			Fibronectin type-III 1.		A8K0G6|A8MRU0|Q27J74|Q695L1|Q6FGA6|Q6ZQW1|Q6ZTL8|Q9P2P9	Missense_Mutation	SNP	ENST00000312358.7	37	c.4036G>A	CCDS42824.1	.	.	.	.	.	.	.	.	.	.	G	13.21	2.167817	0.38315	.	.	ENSG00000072195	ENST00000312358;ENST00000265327	T	0.53857	0.6	5.11	5.11	0.69529	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.000000	0.39687	N	0.001286	T	0.51041	0.1651	L	0.43923	1.385	0.80722	D	1	P	0.48764	0.915	P	0.45071	0.468	T	0.54200	-0.8329	10	0.49607	T	0.09	.	16.3445	0.83118	0.0:0.0:1.0:0.0	.	1346	Q15772	SPEG_HUMAN	T	1346	ENSP00000311684:A1346T	ENSP00000265327:A1346T	A	+	1	0	SPEG	220045951	0.999000	0.42202	0.885000	0.34714	0.152000	0.21847	2.971000	0.49248	2.375000	0.81037	0.561000	0.74099	GCC		0.662	SPEG-004	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130252.2	NM_005876		3	58	0	0	0	1	0	3	58					A	220337707	G	A	220337707	3	1	234	1	0	0	0	0	1	0	0	0	15035	971	34	3	4110	3	SPEG	2	220337707	Missense_Mutation	SNP	G	TCGA-HC-8261-01A-11D-2260-08	829814	220337707	22861666	5	10869											
MFN1	55669	broad.mit.edu	37	chr3	179085842	179085842	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aggtgtggcacttgctgaagGatttcatgcaagattacagg	11	11	13	6	0	1	2	1	1	0	1	1	3	1	3	0	4	3	3	0	4	3	3			TCGA-HC-8261-01A-11D-2260-08	TCGA-HC-8261-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	087237e9-564b-46b8-8f1d-8de3406314b1	e0965003-39bc-46d9-83a7-7df655bdbf56	g.chr3:179085842G>T	ENST00000471841.1	+	9	1052	c.926G>T	c.(925-927)gGa>gTa	p.G309V	MFN1_ENST00000263969.5_Missense_Mutation_p.G309V|MFN1_ENST00000280653.7_Missense_Mutation_p.G309V	NM_033540.2	NP_284941	Q8IWA4	MFN1_HUMAN	mitofusin 1	309	Dynamin-type G.				mitochondrial fusion (GO:0008053)	integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|ovary(3)|prostate(1)|urinary_tract(1)	31	all_cancers(143;1.67e-16)|Ovarian(172;0.0172)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.00225)|BRCA - Breast invasive adenocarcinoma(182;0.0923)			CTTGCTGAAGGATTTCATGCA	0.333																																						ENST00000471841.1																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|ovary(3)|prostate(1)|urinary_tract(1)	31						c.(925-927)gGa>gTa		mitofusin 1							75	76	75					3																	179085842		2203	4299	6502	SO:0001583	missense	55669				mitochondrial fusion	integral to membrane|mitochondrial outer membrane	GTP binding|GTPase activity	g.chr3:179085842G>T	AF054986	CCDS3228.1	3q26.32	2006-12-13			ENSG00000171109	ENSG00000171109			18262	protein-coding gene	gene with protein product		608506				8358434, 11181170	Standard	NM_033540		Approved	FLJ20693	uc003fjs.3	Q8IWA4	OTTHUMG00000157385	ENST00000471841.1:c.926G>T	3.37:g.179085842G>T	ENSP00000420617:p.Gly309Val					MFN1_ENST00000263969.5_Missense_Mutation_p.G309V|MFN1_ENST00000280653.7_Missense_Mutation_p.G309V	p.G309V	NM_033540.2	NP_284941.2	Q8IWA4	MFN1_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.00225)|BRCA - Breast invasive adenocarcinoma(182;0.0923)		9	1052	+	all_cancers(143;1.67e-16)|Ovarian(172;0.0172)|Breast(254;0.155)		309					B2RAR1|D3DNR6|O15323|O60639|Q9BZB5|Q9NWQ2	Missense_Mutation	SNP	ENST00000471841.1	37	c.926G>T	CCDS3228.1	.	.	.	.	.	.	.	.	.	.	G	19.23	3.786794	0.70337	.	.	ENSG00000171109	ENST00000471841;ENST00000280653;ENST00000539169;ENST00000263969;ENST00000474903	D;D;D;D	0.95412	-3.57;-3.57;-3.57;-3.7	5.34	5.34	0.76211	.	0.000000	0.85682	D	0.000000	D	0.98055	0.9359	M	0.86420	2.815	0.80722	D	1	D;D;D	0.89917	1.0;0.999;0.999	D;D;D	0.97110	1.0;0.952;0.93	D	0.98623	1.0668	10	0.72032	D	0.01	-16.1129	19.388	0.94565	0.0:0.0:1.0:0.0	.	309;337;309	Q8IWA4-3;Q4AEJ4;Q8IWA4	.;.;MFN1_HUMAN	V	309;309;309;309;172	ENSP00000420617:G309V;ENSP00000280653:G309V;ENSP00000263969:G309V;ENSP00000419926:G172V	ENSP00000263969:G309V	G	+	2	0	MFN1	180568536	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.267000	0.95665	2.651000	0.90000	0.650000	0.86243	GGA		0.333	MFN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348654.2	NM_017927		3	51	1	0	0.014758	1	0.014985	3	51					T	179085842	G	T	179085842	3	4	234	1	0	0	0	0	1	0	0	0	9523	1174	41	5	956	5	MFN1	3	179085842	Missense_Mutation	SNP	G	TCGA-HC-8261-01A-11D-2260-08		179085842	18936588	6	10870											
SHROOM3	57619	broad.mit.edu	37	chr4	77677870	77677870	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agaaagtcagtcctgatcctCagaagagttcagaagacatc	15	8	9	9	0	3	6	3	1	0	5	6	6	5	6	2	0	0	1	2	0	3	1			TCGA-HC-8261-01A-11D-2260-08	TCGA-HC-8261-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	087237e9-564b-46b8-8f1d-8de3406314b1	e0965003-39bc-46d9-83a7-7df655bdbf56	g.chr4:77677870C>T	ENST00000296043.6	+	8	5931	c.4978C>T	c.(4978-4980)Cag>Tag	p.Q1660*	RP11-359D14.3_ENST00000449007.1_RNA|RP11-359D14.2_ENST00000452412.1_RNA	NM_020859.3	NP_065910.3	Q8TF72	SHRM3_HUMAN	shroom family member 3	1660					actin cytoskeleton organization (GO:0030036)|apical protein localization (GO:0045176)|cell morphogenesis (GO:0000902)|cellular pigment accumulation (GO:0043482)|columnar/cuboidal epithelial cell development (GO:0002066)|neural tube closure (GO:0001843)|pattern specification process (GO:0007389)|regulation of cell shape (GO:0008360)	adherens junction (GO:0005912)|apical junction complex (GO:0043296)|apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|microtubule (GO:0005874)				NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60			Lung(101;0.0903)			TCCTGATCCTCAGAAGAGTTC	0.488																																						ENST00000296043.6																			0				NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60						c.(4978-4980)Cag>Tag		shroom family member 3							69	73	71					4																	77677870		2203	4300	6503	SO:0001587	stop_gained	57619				apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape	adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule	actin binding	g.chr4:77677870C>T	AB055660	CCDS3579.2	4q21.1	2009-11-25			ENSG00000138771	ENSG00000138771			30422	protein-coding gene	gene with protein product		604570				10589677, 16615870	Standard	NM_020859		Approved	ShrmL, SHRM, KIAA1481, APXL3	uc011cbx.2	Q8TF72	OTTHUMG00000157075	ENST00000296043.6:c.4978C>T	4.37:g.77677870C>T	ENSP00000296043:p.Gln1660*						p.Q1660*	NM_020859.3	NP_065910.3	Q8TF72	SHRM3_HUMAN	Lung(101;0.0903)		8	5931	+			1660					Q5QTQ3|Q6ZRW3|Q96IR9|Q9P247	Nonsense_Mutation	SNP	ENST00000296043.6	37	c.4978C>T	CCDS3579.2	.	.	.	.	.	.	.	.	.	.	C	50	16.779132	0.99872	.	.	ENSG00000138771	ENST00000296043;ENST00000264907	.	.	.	5.27	4.38	0.52667	.	0.670270	0.14028	N	0.346377	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.33940	T	0.23	-17.2393	9.3805	0.38311	0.1972:0.5648:0.238:0.0	.	.	.	.	X	1660;137	.	ENSP00000264907:Q137X	Q	+	1	0	SHROOM3	77896894	0.942000	0.31987	0.991000	0.47740	0.981000	0.71138	1.756000	0.38390	2.623000	0.88846	0.585000	0.79938	CAG		0.488	SHROOM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252408.2	NM_020859		5	64	0	0	0	1	0	5	64					T	77677870	C	T	77677870	4	4	234	1	0	0	0	0	0	1	0	0	14295	827	29	3	5008	3	SHROOM3	4	77677870	Nonsense_Mutation	SNP	C	TCGA-HC-8261-01A-11D-2260-08		77677870	113476406	7	10871											
AGXT2L1	64850	broad.mit.edu	37	chr4	109675832	109675832	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgaaacttatatgggctaaTctcaattaaggatgataggt	14	13	9	5	0	1	2	1	2	1	0	2	3	1	3	0	3	1	1	0	3	7	5			TCGA-HC-8261-01A-11D-2260-08	TCGA-HC-8261-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	087237e9-564b-46b8-8f1d-8de3406314b1	e0965003-39bc-46d9-83a7-7df655bdbf56	g.chr4:109675832T>A	ENST00000296486.3	-	5	599	c.445A>T	c.(445-447)Att>Ttt	p.I149F	ETNPPL_ENST00000512646.1_Missense_Mutation_p.I91F|ETNPPL_ENST00000411864.2_Missense_Mutation_p.I143F|ETNPPL_ENST00000510706.1_Missense_Mutation_p.I109F	NM_001146590.1|NM_031279.3	NP_001140062.1|NP_112569.2	Q8TBG4	AT2L1_HUMAN	ethanolamine-phosphate phospho-lyase	149						mitochondrion (GO:0005739)	ethanolamine-phosphate phospho-lyase activity (GO:0050459)|pyridoxal phosphate binding (GO:0030170)|transaminase activity (GO:0008483)										TATGGGCTAATCTCAATTAAG	0.313																																						ENST00000296486.3																			0											c.(445-447)Att>Ttt		ethanolamine-phosphate phospho-lyase							113	114	114					4																	109675832		2203	4300	6503	SO:0001583	missense	64850							g.chr4:109675832T>A	AJ298293	CCDS3682.1, CCDS54792.1, CCDS54793.1	4q25	2013-06-12	2013-06-12	2013-06-12	ENSG00000164089	ENSG00000164089	4.2.3.2		14404	protein-coding gene	gene with protein product		614682	"alanine-glyoxylate aminotransferase 2-like 1"	AGXT2L1		7592550, 22241472	Standard	NM_031279		Approved		uc003hzc.3	Q8TBG4	OTTHUMG00000161036	ENST00000296486.3:c.445A>T	4.37:g.109675832T>A	ENSP00000296486:p.Ile149Phe					ETNPPL_ENST00000411864.2_Missense_Mutation_p.I143F|ETNPPL_ENST00000512646.1_Missense_Mutation_p.I91F|ETNPPL_ENST00000510706.1_Missense_Mutation_p.I109F	p.I149F	NM_001146590.1|NM_031279.3	NP_001140062.1|NP_112569.2					5	599	-								B7Z1Y0|E9PBY0|Q9H174	Missense_Mutation	SNP	ENST00000296486.3	37	c.445A>T	CCDS3682.1	.	.	.	.	.	.	.	.	.	.	T	22.7	4.319602	0.81469	.	.	ENSG00000164089	ENST00000296486;ENST00000411864;ENST00000512646;ENST00000510706	D;D;D;D	0.86297	-2.1;-2.1;-2.1;-2.1	5.84	5.84	0.93424	Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.000000	0.85682	D	0.000000	D	0.93703	0.7988	M	0.82433	2.59	0.80722	D	1	D;D;D	0.89917	0.971;0.997;1.0	D;D;D	0.79784	0.916;0.986;0.993	D	0.93943	0.7225	9	.	.	.	-22.4404	16.215	0.82206	0.0:0.0:0.0:1.0	.	91;143;149	E9PBY0;Q8TBG4-2;Q8TBG4	.;.;AT2L1_HUMAN	F	149;143;91;109	ENSP00000296486:I149F;ENSP00000392269:I143F;ENSP00000427065:I91F;ENSP00000423240:I109F	.	I	-	1	0	AGXT2L1	109895281	1.000000	0.71417	1.000000	0.80357	0.551000	0.35334	6.249000	0.72427	2.239000	0.73571	0.533000	0.62120	ATT		0.313	ETNPPL-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000363508.1	NM_031279		19	40	0	0	0	1	0	19	40					A	109675832	T	A	109675832	3	1	234	1	0	0	0	0	1	0	0	0	406	1435	50	5	1090	5	AGXT2L1	4	109675832	Missense_Mutation	SNP	T	TCGA-HC-8261-01A-11D-2260-08	31997962	109675832	81478444	8	10872											
RANBP9	10048	broad.mit.edu	37	chr6	13711709	13711709	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gctgctgttgctgctgctgcGgcggcggcggcggcggctgc	0	8	20	13	6	0	0	0	0	0	0	0	0	0	0	0	6	6	7	0	6	0	1			TCGA-HC-8261-01A-11D-2260-08	TCGA-HC-8261-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	087237e9-564b-46b8-8f1d-8de3406314b1	e0965003-39bc-46d9-83a7-7df655bdbf56	g.chr6:13711709G>T	ENST00000011619.3	-	1	87	c.29C>A	c.(28-30)cCg>cAg	p.P10Q		NM_005493.2	NP_005484.2	Q96S59	RANB9_HUMAN	RAN binding protein 9	10	Poly-Pro.				axon guidance (GO:0007411)|microtubule nucleation (GO:0007020)|protein complex assembly (GO:0006461)	cytosol (GO:0005829)|microtubule associated complex (GO:0005875)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|Ran GTPase binding (GO:0008536)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|skin(1)	16	Breast(50;0.00669)|Ovarian(93;0.0634)	all_hematologic(90;0.117)	Epithelial(50;0.223)			ctgctgctgcggcggcggcgg	0.761																																						ENST00000011619.3																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|skin(1)	16						c.(28-30)cCg>cAg		RAN binding protein 9							4	5	5					6																	13711709		764	1870	2634	SO:0001583	missense	10048				axon guidance|microtubule nucleation|protein complex assembly	cytosol|microtubule associated complex|nucleus	Ran GTPase binding	g.chr6:13711709G>T	AB008515	CCDS4529.1	6p23	2010-05-25			ENSG00000010017	ENSG00000010017			13727	protein-coding gene	gene with protein product	"Ran Binding Protein in the Microtubule organizing center"	603854				9817760	Standard	NM_005493		Approved	RanBPM	uc003nbb.3	Q96S59	OTTHUMG00000015642	ENST00000011619.3:c.29C>A	6.37:g.13711709G>T	ENSP00000011619:p.Pro10Gln						p.P10Q	NM_005493.2	NP_005484.2	Q96S59	RANB9_HUMAN	Epithelial(50;0.223)		1	87	-	Breast(50;0.00669)|Ovarian(93;0.0634)	all_hematologic(90;0.117)	10			Poly-Pro.		A0PJA2|B2R8E1|O94764|Q6P3T7|Q7LBR2|Q7Z7F9	Missense_Mutation	SNP	ENST00000011619.3	37	c.29C>A	CCDS4529.1	.	.	.	.	.	.	.	.	.	.	g	8.018	0.759040	0.15846	.	.	ENSG00000010017	ENST00000011619;ENST00000283152	T	0.78003	-1.14	1.59	-3.18	0.05186	.	.	.	.	.	T	0.30198	0.0757	N	0.08118	0	0.21416	N	0.999694	B	0.18968	0.032	B	0.10450	0.005	T	0.18555	-1.0333	9	0.30854	T	0.27	.	5.1241	0.14875	0.0:0.0:0.4149:0.5851	.	10	Q96S59	RANB9_HUMAN	Q	10	ENSP00000011619:P10Q	ENSP00000011619:P10Q	P	-	2	0	RANBP9	13819688	0.000000	0.05858	0.967000	0.41034	0.688000	0.40055	-1.054000	0.03496	-0.053000	0.13289	0.154000	0.16183	CCG		0.761	RANBP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042373.1			3	12	1	0	1.024e-07	1	1.07276e-07	3	12					T	13711709	G	T	13711709	3	4	234	1	0	0	0	0	1	0	0	0	13032	1116	39	5	2216	5	RANBP9	6	13711709	Missense_Mutation	SNP	G	TCGA-HC-8261-01A-11D-2260-08		13711709	157403358	9	10873											
ZNF322A	79692	broad.mit.edu	37	chr6	26637597	26637597	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacatctgtgaggcttctgaCgcatggggagggctaagctc	8	9	15	9	1	2	2	0	2	2	0	3	4	2	3	0	4	1	4	0	4	1	2	rs533848457		TCGA-HC-8261-01A-11D-2260-08	TCGA-HC-8261-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	087237e9-564b-46b8-8f1d-8de3406314b1	e0965003-39bc-46d9-83a7-7df655bdbf56	g.chr6:26637597C>T	ENST00000415922.2	-	4	1830	c.1185G>A	c.(1183-1185)gcG>gcA	p.A395A	RP11-457M11.2_ENST00000456172.1_RNA|ZNF322_ENST00000471278.1_Silent_p.A395A|ZNF322_ENST00000461899.1_5'Flank	NM_024639.4	NP_078915.2	Q6U7Q0	ZN322_HUMAN	zinc finger protein 322	395					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)										AGGCTTCTGACGCATGGGGAG	0.408													C|||	1	0.000199681	0	0	5008	,	,		22813	0		0.001	False		,,,				2504	0					ENST00000415922.2																			0											c.(1183-1185)gcG>gcA		zinc finger protein 322																																				SO:0001819	synonymous_variant	79692				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding	g.chr6:26637597C>T	AY376736	CCDS4617.1	6p22.1	2013-01-08	2011-07-29	2011-07-29	ENSG00000181315	ENSG00000181315		"Zinc fingers, C2H2-type"	23640	protein-coding gene	gene with protein product		610847	"zinc finger protein 489", "HLA complex group 12", "zinc finger protein 322A"	ZNF489, ZNF388, HCG12, ZNF322A		15555580	Standard	NM_024639		Approved	bA457M11.3, bA457M11.2	uc021yny.1	Q6U7Q0	OTTHUMG00000014460	ENST00000415922.2:c.1185G>A	6.37:g.26637597C>T						ZNF322_ENST00000471278.1_Silent_p.A395A	p.A395A	NM_024639.4	NP_078915.2	Q6U7Q0	Z322A_HUMAN			4	1830	-			395					A8K1X3|Q0VDH6|Q6B0G2|Q86W72|Q9H5I9	Silent	SNP	ENST00000415922.2	37	c.1185G>A	CCDS4617.1																																																																																				0.408	ZNF322-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040126.2	NM_024639		4	131	0	0	0	1	0	4	131					T	26637597	C	T	26637597	2	4	234	1	0	0	0	0	0	0	0	1	17838	523	19	1		1	ZNF322A	6	26637597	Silent	SNP	C	TCGA-HC-8261-01A-11D-2260-08	12925888	26637597	144477470	10	10874											
HLA-G	3135	broad.mit.edu	37	chr6	29797242	29797242	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	accctgtctttgactatgagGccaccctgaggtgctgggcc	6	10	12	13	0	1	3	0	3	1	0	1	3	1	3	4	3	1	1	4	3	1	2			TCGA-HC-8261-01A-11D-2260-08	TCGA-HC-8261-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	087237e9-564b-46b8-8f1d-8de3406314b1	e0965003-39bc-46d9-83a7-7df655bdbf56	g.chr6:29797242G>A	ENST00000360323.6	+	4	691	c.667G>A	c.(667-669)Gcc>Acc	p.A223T	HLA-G_ENST00000376818.3_Missense_Mutation_p.A131T|HLA-G_ENST00000376828.2_Missense_Mutation_p.A228T|HLA-G_ENST00000428701.1_Missense_Mutation_p.A223T|HLA-G_ENST00000376815.3_Intron			P17693	HLAG_HUMAN	major histocompatibility complex, class I, G	223	Alpha-3.|Ig-like C1-type.				antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular defense response (GO:0006968)|cytokine-mediated signaling pathway (GO:0019221)|immune response-inhibiting cell surface receptor signaling pathway (GO:0002767)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of dendritic cell differentiation (GO:2001199)|negative regulation of T cell proliferation (GO:0042130)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of regulatory T cell differentiation (GO:0045591)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|positive regulation of T cell tolerance induction (GO:0002666)|regulation of immune response (GO:0050776)|type I interferon signaling pathway (GO:0060337)	early endosome membrane (GO:0031901)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|membrane (GO:0016020)|MHC class I protein complex (GO:0042612)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)	peptide antigen binding (GO:0042605)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)			central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(4)|ovary(3)|pancreas(1)|prostate(5)|skin(1)	21						TGACTATGAGGCCACCCTGAG	0.582																																						ENST00000428701.1																			0				central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(4)|ovary(3)|pancreas(1)|prostate(5)|skin(1)	21						c.(667-669)Gcc>Acc		major histocompatibility complex, class I, G							97	102	100					6																	29797242		2203	4300	6503	SO:0001583	missense	3135				antigen processing and presentation of peptide antigen via MHC class I|cellular defense response|interferon-gamma-mediated signaling pathway|regulation of immune response|type I interferon-mediated signaling pathway	integral to membrane|MHC class I protein complex	MHC class I receptor activity	g.chr6:29797242G>A		CCDS4668.1	6p21.3	2013-01-11	2007-12-12		ENSG00000204632	ENSG00000204632		"Histocompatibility complex", "Immunoglobulin superfamily / C1-set domain containing"	4964	protein-coding gene	gene with protein product	"b2 microglobulin"	142871	"HLA-G histocompatibility antigen, class I, G"				Standard	NM_002127		Approved		uc003nnw.2	P17693	OTTHUMG00000031157	ENST00000360323.6:c.667G>A	6.37:g.29797242G>A	ENSP00000353472:p.Ala223Thr					HLA-G_ENST00000376818.3_Missense_Mutation_p.A131T|HLA-G_ENST00000376828.2_Missense_Mutation_p.A228T|HLA-G_ENST00000360323.6_Missense_Mutation_p.A223T|HLA-G_ENST00000376815.3_Intron	p.A223T	NM_002127.5	NP_002118.1	P17693	HLAG_HUMAN			5	845	+			223			Alpha-3.|Ig-like C1-type.			Missense_Mutation	SNP	ENST00000360323.6	37	c.667G>A	CCDS4668.1	.	.	.	.	.	.	.	.	.	.	.	9.739	1.164298	0.21538	.	.	ENSG00000204632	ENST00000376828;ENST00000428701;ENST00000360323;ENST00000376818	T;T;T;T	0.03212	4.01;4.01;4.01;4.01	1.72	0.793	0.18632	Immunoglobulin-like (1);Immunoglobulin C1-set (2);Immunoglobulin-like fold (1);	0.820778	0.09668	N	0.771562	T	0.01558	0.0050	N	0.21282	0.65	0.09310	N	1	B;B;B	0.31879	0.344;0.064;0.086	P;B;B	0.44860	0.462;0.008;0.125	T	0.50841	-0.8780	10	0.87932	D	0	.	4.0961	0.09991	0.2346:0.0:0.7654:0.0	.	228;131;223	Q5RJ85;Q31611;P17693	.;.;HLAG_HUMAN	T	228;223;223;131	ENSP00000366024:A228T;ENSP00000412927:A223T;ENSP00000353472:A223T;ENSP00000366014:A131T	ENSP00000353472:A223T	A	+	1	0	HLA-G	29905221	0.007000	0.16637	0.032000	0.17829	0.578000	0.36192	0.003000	0.13083	0.073000	0.16731	0.298000	0.19748	GCC		0.582	HLA-G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076286.2	NM_002127		9	192	0	0	0	1	0	9	192					A	29797242	G	A	29797242	3	1	234	1	0	0	0	0	1	0	0	0	7212	1203	42	3	681	3	HLA-G	6	29797242	Missense_Mutation	SNP	G	TCGA-HC-8261-01A-11D-2260-08	3159645	29797242	141317825	11	10875											
ENPP4	22875	broad.mit.edu	37	chr6	46107609	46107609	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctaattccatgtatgatgcaGtcacaaagaaacacttttct	14	13	5	9	0	2	2	1	1	1	1	3	2	3	2	1	0	2	2	1	0	4	5			TCGA-HC-8261-01A-11D-2260-08	TCGA-HC-8261-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	087237e9-564b-46b8-8f1d-8de3406314b1	e0965003-39bc-46d9-83a7-7df655bdbf56	g.chr6:46107609G>A	ENST00000321037.4	+	2	519	c.289G>A	c.(289-291)Gtc>Atc	p.V97I		NM_014936.4	NP_055751.1	Q9Y6X5	ENPP4_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 4 (putative)	97					blood coagulation (GO:0007596)|positive regulation of blood coagulation (GO:0030194)|purine ribonucleoside catabolic process (GO:0046130)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	bis(5'-adenosyl)-triphosphatase activity (GO:0047710)|metal ion binding (GO:0046872)			central_nervous_system(1)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	18						GTATGATGCAGTCACAAAGAA	0.388																																						ENST00000321037.4																			0				central_nervous_system(1)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	18						c.(289-291)Gtc>Atc		ectonucleotide pyrophosphatase/phosphodiesterase 4 (putative)							93	83	86					6																	46107609		2203	4299	6502	SO:0001583	missense	22875					integral to membrane	hydrolase activity	g.chr6:46107609G>A	AB020686	CCDS34468.1	6p12.3	2010-06-24	2010-06-24		ENSG00000001561	ENSG00000001561			3359	protein-coding gene	gene with protein product						11027689	Standard	NM_014936		Approved	NPP4, KIAA0879	uc003oxy.3	Q9Y6X5	OTTHUMG00000014779	ENST00000321037.4:c.289G>A	6.37:g.46107609G>A	ENSP00000318066:p.Val97Ile						p.V97I	NM_014936.4	NP_055751.1	Q9Y6X5	ENPP4_HUMAN			2	519	+			97					A8K5G1|Q7L2N1	Missense_Mutation	SNP	ENST00000321037.4	37	c.289G>A	CCDS34468.1	.	.	.	.	.	.	.	.	.	.	G	9.020	0.984684	0.18889	.	.	ENSG00000001561	ENST00000321037;ENST00000371401	T	0.72394	-0.65	5.97	3.07	0.35406	Alkaline phosphatase-like, alpha/beta/alpha (1);Alkaline-phosphatase-like, core domain (1);	0.879580	0.10166	N	0.707742	T	0.35335	0.0928	N	0.25201	0.72	0.09310	N	1	B	0.02656	0.0	B	0.08055	0.003	T	0.30031	-0.9992	10	0.34782	T	0.22	-0.0495	10.3766	0.44085	0.1964:0.0:0.8036:0.0	.	97	Q9Y6X5	ENPP4_HUMAN	I	97	ENSP00000318066:V97I	ENSP00000318066:V97I	V	+	1	0	ENPP4	46215568	0.032000	0.19561	0.005000	0.12908	0.954000	0.61252	2.286000	0.43496	0.330000	0.23485	0.655000	0.94253	GTC		0.388	ENPP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040777.2			3	96	0	0	0	1	0	3	96					A	46107609	G	A	46107609	3	1	234	1	0	0	0	0	1	0	0	0	5132	1029	36	3	291	3	ENPP4	6	46107609	Missense_Mutation	SNP	G	TCGA-HC-8261-01A-11D-2260-08	16310367	46107609	125007458	12	10876											
CDK19	23097	broad.mit.edu	37	chr6	110944514	110944514	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagaggaacactttgctgtcAggcttgaccttgtgtttctc	8	14	10	9	0	2	2	1	1	1	1	3	3	2	3	1	2	2	3	1	2	2	4			TCGA-HC-8261-01A-11D-2260-08	TCGA-HC-8261-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	087237e9-564b-46b8-8f1d-8de3406314b1	e0965003-39bc-46d9-83a7-7df655bdbf56	g.chr6:110944514A>T	ENST00000368911.3	-	9	1091	c.912T>A	c.(910-912)ccT>ccA	p.P304P	CDK19_ENST00000413605.2_Silent_p.P180P|CDK19_ENST00000323817.3_Silent_p.P244P	NM_015076.3	NP_055891.1	Q9BWU1	CDK19_HUMAN	cyclin-dependent kinase 19	304	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.						ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(2)|prostate(2)|skin(1)	22						CTTTGCTGTCAGGCTTGACCT	0.458																																						ENST00000368911.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(2)|prostate(2)|skin(1)	22						c.(910-912)ccT>ccA		cyclin-dependent kinase 19							234	186	202					6																	110944514		2203	4300	6503	SO:0001819	synonymous_variant	23097						ATP binding|cyclin-dependent protein kinase activity|protein binding	g.chr6:110944514A>T	AL122055	CCDS5085.1, CCDS75503.1	6q21	2011-10-25	2009-12-16	2009-12-16	ENSG00000155111	ENSG00000155111		"Cyclin-dependent kinases"	19338	protein-coding gene	gene with protein product		614720	"cyclin-dependent kinase (CDC2-like) 11", "cell division cycle 2-like 6 (CDK8-like)"	CDK11, CDC2L6		10470851, 19884882	Standard	XM_005266871		Approved	KIAA1028, bA346C16.3	uc003puh.1	Q9BWU1	OTTHUMG00000015365	ENST00000368911.3:c.912T>A	6.37:g.110944514A>T						CDK19_ENST00000413605.2_Silent_p.P180P|CDK19_ENST00000323817.3_Silent_p.P244P	p.P304P	NM_015076.3	NP_055891.1	Q9BWU1	CDK19_HUMAN			9	1091	-			304			Protein kinase.		Q5JQZ7|Q5JR00|Q8TC78|Q9UPX2	Silent	SNP	ENST00000368911.3	37	c.912T>A	CCDS5085.1																																																																																				0.458	CDK19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041804.1	NM_015076		3	123	0	0	0	1	0	3	123					T	110944514	A	T	110944514	2	4	234	1	0	0	0	0	0	0	0	1	3135	175	7	5		5	CDK19	6	110944514	Silent	SNP	A	TCGA-HC-8261-01A-11D-2260-08	64836905	110944514	60170553	13	10877											
FAM120A	23196	broad.mit.edu	37	chr9	96320951	96320951	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcggcagcatcgggacactgCggagccttctcaggcagtga	8	6	15	12	3	1	1	1	1	1	0	3	3	1	3	1	4	3	3	1	4	0	1	rs376063622		TCGA-HC-8261-01A-11D-2260-08	TCGA-HC-8261-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	087237e9-564b-46b8-8f1d-8de3406314b1	e0965003-39bc-46d9-83a7-7df655bdbf56	g.chr9:96320951C>T	ENST00000277165.6	+	15	2951	c.2757C>T	c.(2755-2757)tgC>tgT	p.C919C	FAM120A_ENST00000333936.5_Silent_p.C947C|FAM120A_ENST00000340893.4_Intron	NM_014612.3	NP_055427.2	Q9NZB2	F120A_HUMAN	family with sequence similarity 120A	919	RNA binding.					cytoplasm (GO:0005737)|membrane (GO:0016020)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)			endometrium(5)|kidney(3)|large_intestine(8)|lung(12)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						CGGGACACTGCGGAGCCTTCT	0.622																																						ENST00000277165.6																			0				endometrium(5)|kidney(3)|large_intestine(8)|lung(12)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						c.(2755-2757)tgC>tgT		family with sequence similarity 120A		C		0,4406		0,0,2203	56	55	55		2757	-3.7	0.9	9		55	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	FAM120A	NM_014612.3		0,2,6501	TT,TC,CC		0.0233,0.0,0.0154		919/1119	96320951	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	23196					cytoplasm|plasma membrane	RNA binding	g.chr9:96320951C>T	AF214737	CCDS6706.1, CCDS75859.1	9q22.31	2013-03-08	2006-07-04	2006-07-04	ENSG00000048828	ENSG00000048828			13247	protein-coding gene	gene with protein product	"DNA polymerase-transactivated protein 1", "oxidative stess-associated Src activator"	612265	"chromosome 9 open reading frame 10"	C9orf10		14585507	Standard	NM_001286722		Approved	KIAA0183, DNAPTP1, OSSA	uc004atw.3	Q9NZB2	OTTHUMG00000020252	ENST00000277165.6:c.2757C>T	9.37:g.96320951C>T						FAM120A_ENST00000340893.4_Intron|FAM120A_ENST00000333936.5_Silent_p.C947C	p.C919C	NM_014612.3	NP_055427.2	Q9NZB2	F120A_HUMAN			15	2951	+			919			RNA binding.		A6NGU0|C4AMC6|O60649|Q14688|Q4VXF4|Q4VXF5|Q4VXG2|Q86V69|Q96I21|Q9NZB1	Silent	SNP	ENST00000277165.6	37	c.2757C>T	CCDS6706.1																																																																																				0.622	FAM120A-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053160.2	NM_014612		17	41	0	0	0	1	0	17	41					T	96320951	C	T	96320951	2	4	234	1	0	0	0	0	0	0	0	1	5415	776	27	1		1	FAM120A	9	96320951	Silent	SNP	C	TCGA-HC-8261-01A-11D-2260-08		96320951	44892480	14	10878											
DHTKD1	55526	broad.mit.edu	37	chr10	12133636	12133636	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	taataaccagctgggttacaCcactccagctgaaagaggaa	15	7	9	10	0	0	2	0	1	0	1	1	3	1	3	3	2	4	3	3	2	5	3			TCGA-HC-8261-01A-11D-2260-08	TCGA-HC-8261-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	087237e9-564b-46b8-8f1d-8de3406314b1	e0965003-39bc-46d9-83a7-7df655bdbf56	g.chr10:12133636C>T	ENST00000263035.4	+	6	1174	c.1112C>T	c.(1111-1113)aCc>aTc	p.T371I	DHTKD1_ENST00000465617.1_Intron	NM_018706.5	NP_061176	Q96HY7	DHTK1_HUMAN	dehydrogenase E1 and transketolase domain containing 1	371					cell death (GO:0008219)|generation of precursor metabolites and energy (GO:0006091)|glycolytic process (GO:0006096)|hematopoietic progenitor cell differentiation (GO:0002244)|tricarboxylic acid cycle (GO:0006099)	mitochondrion (GO:0005739)	oxoglutarate dehydrogenase (succinyl-transferring) activity (GO:0004591)|thiamine pyrophosphate binding (GO:0030976)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(1)	44		Renal(717;0.228)	BRCA - Breast invasive adenocarcinoma(52;0.188)			CTGGGTTACACCACTCCAGCT	0.448																																						ENST00000263035.4																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(1)	44						c.(1111-1113)aCc>aTc		dehydrogenase E1 and transketolase domain containing 1							106	97	100					10																	12133636		2203	4300	6503	SO:0001583	missense	55526				glycolysis	mitochondrion	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding	g.chr10:12133636C>T	BC002477	CCDS7087.1	10p14	2003-11-24			ENSG00000181192	ENSG00000181192			23537	protein-coding gene	gene with protein product		614984				10997877	Standard	NM_018706		Approved	KIAA1630, MGC3090, DKFZP762M115	uc001ild.5	Q96HY7	OTTHUMG00000017677	ENST00000263035.4:c.1112C>T	10.37:g.12133636C>T	ENSP00000263035:p.Thr371Ile					DHTKD1_ENST00000465617.1_Intron	p.T371I	NM_018706.5	NP_061176.3	Q96HY7	DHTK1_HUMAN	BRCA - Breast invasive adenocarcinoma(52;0.188)		6	1174	+		Renal(717;0.228)	371					Q68CU5|Q9BUM8|Q9HCE2	Missense_Mutation	SNP	ENST00000263035.4	37	c.1112C>T	CCDS7087.1	.	.	.	.	.	.	.	.	.	.	C	26.7	4.766586	0.90020	.	.	ENSG00000181192	ENST00000263035;ENST00000437298;ENST00000415935	D;D;D	0.96459	-4.02;-4.02;-4.02	5.7	5.7	0.88788	Dehydrogenase, E1 component (1);	0.000000	0.85682	D	0.000000	D	0.99058	0.9677	H	0.98542	4.26	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99026	1.0819	10	0.87932	D	0	-16.6909	19.8385	0.96670	0.0:1.0:0.0:0.0	.	371	Q96HY7	DHTK1_HUMAN	I	371;306;69	ENSP00000263035:T371I;ENSP00000388163:T306I;ENSP00000400625:T69I	ENSP00000263035:T371I	T	+	2	0	DHTKD1	12173642	1.000000	0.71417	1.000000	0.80357	0.771000	0.43674	7.764000	0.85297	2.701000	0.92244	0.655000	0.94253	ACC		0.448	DHTKD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046777.1	NM_018706		5	91	0	0	0	1	0	5	91					T	12133636	C	T	12133636	3	4	234	1	0	0	0	0	1	0	0	0	4500	507	18	3	1134	3	DHTKD1	10	12133636	Missense_Mutation	SNP	C	TCGA-HC-8261-01A-11D-2260-08		12133636	123401111	15	10879											
C10orf79	80217	broad.mit.edu	37	chr10	105967581	105967581	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaggatatagatcatctttcGgcttcagggagagaataaaa	16	10	10	5	1	3	2	2	0	1	2	4	5	3	4	0	3	0	1	0	3	6	5			TCGA-HC-8261-01A-11D-2260-08	TCGA-HC-8261-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	087237e9-564b-46b8-8f1d-8de3406314b1	e0965003-39bc-46d9-83a7-7df655bdbf56	g.chr10:105967581G>A	ENST00000278064.2	-	6	852	c.527C>T	c.(526-528)cCg>cTg	p.P176L	WDR96_ENST00000357060.3_Splice_Site_p.P246L|WDR96_ENST00000369719.1_Splice_Site_p.P176L|WDR96_ENST00000369720.1_Splice_Site_p.P176L|WDR96_ENST00000428666.1_Splice_Site_p.P246L																NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(14)|lung(21)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						ATCATCTTTCGGCTTCAGGGA	0.398																																						ENST00000357060.3																			0				NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(14)|lung(21)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						c.e6-1		WD repeat domain 96							90	80	84					10																	105967581		2203	4300	6503	SO:0001630	splice_region_variant	80217							g.chr10:105967581G>A																												ENST00000278064.2:c.526-1C>T	10.37:g.105967581G>A						WDR96_ENST00000278064.2_Splice_Site_p.P176_splice|WDR96_ENST00000369720.1_Splice_Site_p.P176_splice|WDR96_ENST00000428666.1_Splice_Site_p.P246_splice|WDR96_ENST00000369719.1_Splice_Site_p.P176_splice	p.P246_splice	NM_025145.5	NP_079421.5	Q8NDM7	WDR96_HUMAN			6	852	-			246						Splice_Site	SNP	ENST00000278064.2	37	c.735_splice		.	.	.	.	.	.	.	.	.	.	G	15.05	2.716746	0.48622	.	.	ENSG00000197748	ENST00000357060;ENST00000428666;ENST00000278064;ENST00000369720;ENST00000369719	T;T;T;T;T	0.49720	2.37;2.35;2.32;1.36;0.77	5.48	5.48	0.80851	WD40 repeat-like-containing domain (1);	0.000000	0.39834	N	0.001259	T	0.66954	0.2842	M	0.74258	2.255	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.993;1.0;0.996	T	0.66424	-0.5927	10	0.41790	T	0.15	.	13.1401	0.59430	0.0:0.0:0.8399:0.1601	.	246;246;246	Q8NDM7-5;B4DHB6;Q8NDM7	.;.;WDR96_HUMAN	L	246;246;176;176;176	ENSP00000349568:P246L;ENSP00000400289:P246L;ENSP00000278064:P176L;ENSP00000358734:P176L;ENSP00000358733:P176L	ENSP00000278064:P176L	P	-	2	0	WDR96	105957571	1.000000	0.71417	0.985000	0.45067	0.090000	0.18270	6.408000	0.73285	2.587000	0.87381	0.555000	0.69702	CCG		0.398	WDR96-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000050200.1		Missense_Mutation	25	59	0	0	0	1	0	25	59					A	105967581	G	A	105967581	5	1	234	1	0	0	0	0	0	0	1	0	1618	1130	39	2	4392	2	C10orf79	10	105967581	Splice_Site	SNP	G	TCGA-HC-8261-01A-11D-2260-08	93833945	105967581	29567166	16	10880											
FAM53B	9679	broad.mit.edu	37	chr10	126370270	126370270	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttcttgtcgttaaggacaCacggctgggagcggctgcgg	6	9	15	11	4	1	0	0	0	1	0	2	2	1	2	1	5	2	3	1	5	1	3			TCGA-HC-8261-01A-11D-2260-08	TCGA-HC-8261-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	087237e9-564b-46b8-8f1d-8de3406314b1	e0965003-39bc-46d9-83a7-7df655bdbf56	g.chr10:126370270C>G	ENST00000337318.3	-	4	1023	c.812G>C	c.(811-813)tGt>tCt	p.C271S	FAM53B_ENST00000280780.6_Missense_Mutation_p.C271S|FAM53B_ENST00000392754.3_Missense_Mutation_p.C271S|RP11-12J10.3_ENST00000494792.1_3'UTR	NM_014661.3	NP_055476.3	Q14153	FA53B_HUMAN	family with sequence similarity 53, member B	271										cervix(1)|lung(5)|ovary(2)|pancreas(1)	9		all_lung(145;0.0191)|Lung NSC(174;0.0301)|Colorectal(57;0.106)|all_neural(114;0.117)		COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.15)		GTTAAGGACACACGGCTGGGA	0.577																																						ENST00000337318.3																			0				cervix(1)|lung(5)|ovary(2)|pancreas(1)	9						c.(811-813)tGt>tCt		family with sequence similarity 53, member B							30	28	29					10																	126370270		2202	4300	6502	SO:0001583	missense	9679							g.chr10:126370270C>G	D50930	CCDS7641.1	10q26.13	2004-11-24	2004-11-24	2004-11-24	ENSG00000189319	ENSG00000189319			28968	protein-coding gene	gene with protein product			"KIAA0140"	KIAA0140		8590280	Standard	NM_014661		Approved	bA12J10.2	uc001lhv.1	Q14153	OTTHUMG00000019215	ENST00000337318.3:c.812G>C	10.37:g.126370270C>G	ENSP00000338532:p.Cys271Ser					FAM53B_ENST00000392754.3_Missense_Mutation_p.C271S|FAM53B_ENST00000280780.6_Missense_Mutation_p.C271S|RP11-12J10.3_ENST00000494792.1_3'UTR	p.C271S	NM_014661.3	NP_055476.3	Q14153	FA53B_HUMAN		COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.15)	4	1023	-		all_lung(145;0.0191)|Lung NSC(174;0.0301)|Colorectal(57;0.106)|all_neural(114;0.117)	271					D3DRF1|Q5VUW1|Q5VUW2|Q8N5S6	Missense_Mutation	SNP	ENST00000337318.3	37	c.812G>C	CCDS7641.1	.	.	.	.	.	.	.	.	.	.	C	26.5	4.743044	0.89663	.	.	ENSG00000189319	ENST00000337318;ENST00000392754;ENST00000280780	T;T;T	0.76709	-1.04;-1.04;-1.04	4.85	4.85	0.62838	.	0.048963	0.85682	D	0.000000	D	0.86847	0.6031	M	0.64997	1.995	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.997;0.998;0.998	D	0.88177	0.2868	10	0.87932	D	0	-20.6699	18.1993	0.89833	0.0:1.0:0.0:0.0	.	271;271;271	Q14153-2;Q14153;B3KMZ2	.;FA53B_HUMAN;.	S	271	ENSP00000338532:C271S;ENSP00000376509:C271S;ENSP00000280780:C271S	ENSP00000280780:C271S	C	-	2	0	FAM53B	126360260	1.000000	0.71417	0.966000	0.40874	0.981000	0.71138	7.471000	0.80985	2.532000	0.85374	0.650000	0.86243	TGT		0.577	FAM53B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050879.1	NM_014661		3	7	0	0	0	1	0	3	7					G	126370270	C	G	126370270	3	3	234	1	0	0	0	0	1	0	0	0	5580	478	17	5	464	5	FAM53B	10	126370270	Missense_Mutation	SNP	C	TCGA-HC-8261-01A-11D-2260-08	20402689	126370270	9164477	17	10881											
DCHS1	8642	broad.mit.edu	37	chr11	6652623	6652623	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cgtcaccagtgttcccggagGcacgcggtctggtacctgtg	5	9	14	13	4	2	0	1	0	1	0	3	1	3	1	3	4	1	3	3	4	1	2			TCGA-HC-8261-01A-11D-2260-08	TCGA-HC-8261-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	087237e9-564b-46b8-8f1d-8de3406314b1	e0965003-39bc-46d9-83a7-7df655bdbf56	g.chr11:6652623G>C	ENST00000299441.3	-	8	4102	c.3691C>G	c.(3691-3693)Cct>Gct	p.P1231A	RP11-732A19.6_ENST00000526633.1_RNA	NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	1231	Cadherin 12. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|calcium-dependent cell-cell adhesion (GO:0016339)|cochlea development (GO:0090102)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|neural tube development (GO:0021915)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|post-anal tail morphogenesis (GO:0036342)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GTTCCCGGAGGCACGCGGTCT	0.552																																						ENST00000299441.3																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103						c.(3691-3693)Cct>Gct		dachsous cadherin-related 1							154	130	138					11																	6652623		2201	4296	6497	SO:0001583	missense	8642				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr11:6652623G>C	AB000895	CCDS7771.1	11p15.4	2013-10-04	2013-10-04	2004-09-03	ENSG00000166341	ENSG00000166341		"Cadherins / Cadherin-related"	13681	protein-coding gene	gene with protein product	"cadherin-related family member 6"	603057	"protocadherin 16", "dachsous 1 (Drosophila)"	CDH25, PCDH16		9199196	Standard	XM_005253207		Approved	FIB1, KIAA1773, FLJ11790, CDHR6	uc001mem.1	Q96JQ0	OTTHUMG00000133398	ENST00000299441.3:c.3691C>G	11.37:g.6652623G>C	ENSP00000299441:p.Pro1231Ala					RP11-732A19.6_ENST00000526633.1_RNA	p.P1231A	NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	8	4102	-		Medulloblastoma(188;0.00263)|all_neural(188;0.026)	1231			Cadherin 12.		O15098	Missense_Mutation	SNP	ENST00000299441.3	37	c.3691C>G	CCDS7771.1	.	.	.	.	.	.	.	.	.	.	G	15.48	2.847478	0.51164	.	.	ENSG00000166341	ENST00000299441	T	0.54071	0.59	5.33	3.38	0.38709	Cadherin (3);Cadherin-like (1);	0.168938	0.28453	N	0.015292	T	0.38772	0.1053	L	0.37750	1.13	0.42869	D	0.994136	B	0.14805	0.011	B	0.18561	0.022	T	0.19976	-1.0289	10	0.25106	T	0.35	.	8.8488	0.35188	0.0797:0.1486:0.7717:0.0	.	1231	Q96JQ0	PCD16_HUMAN	A	1231	ENSP00000299441:P1231A	ENSP00000299441:P1231A	P	-	1	0	DCHS1	6609199	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	3.180000	0.50895	1.491000	0.48482	-0.140000	0.14226	CCT		0.552	DCHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257258.1	NM_003737		18	150	0	0	0	1	0	18	150					C	6652623	G	C	6652623	3	2	234	1	0	0	0	0	1	0	0	0	4287	1203	42	5	6261	5	DCHS1	11	6652623	Missense_Mutation	SNP	G	TCGA-HC-8261-01A-11D-2260-08		6652623	128353893	18	10882											
OR4D6	219983	broad.mit.edu	37	chr11	59225028	59225028	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctttgctttggagcttttcAtgatctctaacaacggactg	8	15	8	10	1	2	1	1	1	1	0	3	3	2	3	1	2	4	2	1	2	2	5			TCGA-HC-8261-01A-11D-2260-08	TCGA-HC-8261-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	087237e9-564b-46b8-8f1d-8de3406314b1	e0965003-39bc-46d9-83a7-7df655bdbf56	g.chr11:59225028A>G	ENST00000300127.2	+	1	618	c.595A>G	c.(595-597)Atg>Gtg	p.M199V		NM_001004708.1	NP_001004708.1	Q8NGJ1	OR4D6_HUMAN	olfactory receptor, family 4, subfamily D, member 6	199						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	34						GGAGCTTTTCATGATCTCTAA	0.537																																						ENST00000300127.2																			0				breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	34						c.(595-597)Atg>Gtg		olfactory receptor, family 4, subfamily D, member 6							197	164	175					11																	59225028		2201	4295	6496	SO:0001583	missense	219983				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:59225028A>G	AB065803	CCDS31562.1	11q12.1	2012-08-09			ENSG00000166884	ENSG00000166884		"GPCR / Class A : Olfactory receptors"	15175	protein-coding gene	gene with protein product							Standard	NM_001004708		Approved		uc010rku.2	Q8NGJ1	OTTHUMG00000167340	ENST00000300127.2:c.595A>G	11.37:g.59225028A>G	ENSP00000300127:p.Met199Val						p.M199V	NM_001004708.1	NP_001004708.1	Q8NGJ1	OR4D6_HUMAN			1	618	+			199					B2RNP7|Q6IFF5|Q96R74	Missense_Mutation	SNP	ENST00000300127.2	37	c.595A>G	CCDS31562.1	.	.	.	.	.	.	.	.	.	.	A	10.55	1.382930	0.25031	.	.	ENSG00000166884	ENST00000300127	T	0.00034	8.87	6.0	-8.41	0.00961	GPCR, rhodopsin-like superfamily (1);	0.605628	0.15424	N	0.263046	T	0.00073	0.0002	N	0.20685	0.6	0.19575	N	0.999961	B	0.24823	0.112	B	0.31245	0.126	T	0.46679	-0.9174	10	0.02654	T	1	-8.7994	11.0103	0.47659	0.329:0.4949:0.0:0.1761	.	199	Q8NGJ1	OR4D6_HUMAN	V	199	ENSP00000300127:M199V	ENSP00000300127:M199V	M	+	1	0	OR4D6	58981604	0.000000	0.05858	0.529000	0.27951	0.969000	0.65631	-1.384000	0.02542	-0.887000	0.03961	0.528000	0.53228	ATG		0.537	OR4D6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394234.1	NM_001004708		8	116	0	0	0	1	0	8	116					G	59225028	A	G	59225028	3	3	234	1	0	0	0	0	1	0	0	0	11058	217	8	4	597	4	OR4D6	11	59225028	Missense_Mutation	SNP	A	TCGA-HC-8261-01A-11D-2260-08	52572405	59225028	75781488	19	10883											
DAGLA	747	broad.mit.edu	37	chr11	61487640	61487640	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caccagccatgcccgggatcGtggtgttccggcggcgctgg	4	7	16	14	5	0	0	0	0	0	0	2	1	1	1	4	5	2	2	4	5	0	1			TCGA-HC-8261-01A-11D-2260-08	TCGA-HC-8261-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	087237e9-564b-46b8-8f1d-8de3406314b1	e0965003-39bc-46d9-83a7-7df655bdbf56	g.chr11:61487640G>A	ENST00000257215.5	+	2	129	c.13G>A	c.(13-15)Gtg>Atg	p.V5M		NM_006133.2	NP_006124.1	Q9Y4D2	DGLA_HUMAN	diacylglycerol lipase, alpha	5					arachidonic acid metabolic process (GO:0019369)|blood coagulation (GO:0007596)|cell death (GO:0008219)|diacylglycerol catabolic process (GO:0046340)|endocannabinoid signaling pathway (GO:0071926)|neuroblast proliferation (GO:0007405)|neurotransmitter biosynthetic process (GO:0042136)|platelet activation (GO:0030168)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(2)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	43				READ - Rectum adenocarcinoma(4;0.219)		GCCCGGGATCGTGGTGTTCCG	0.622																																						ENST00000257215.5																			0				breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(2)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	43						c.(13-15)Gtg>Atg		diacylglycerol lipase, alpha							85	78	80					11																	61487640		2202	4299	6501	SO:0001583	missense	747				cell death|lipid catabolic process|platelet activation	integral to membrane|plasma membrane	acylglycerol lipase activity|metal ion binding|triglyceride lipase activity	g.chr11:61487640G>A	AB014559	CCDS31578.1	11q12.3	2008-03-18	2007-02-28	2007-02-28		ENSG00000134780	3.1.1.-		1165	protein-coding gene	gene with protein product	"neural stem cell-derived dendrite regulator"	614015	"chromosome 11 open reading frame 11"	C11orf11		9734811	Standard	NM_006133		Approved	KIAA0659, NSDDR, DAGLALPHA	uc001nsa.3	Q9Y4D2		ENST00000257215.5:c.13G>A	11.37:g.61487640G>A	ENSP00000257215:p.Val5Met						p.V5M	NM_006133.2	NP_006124.1	Q9Y4D2	DGLA_HUMAN		READ - Rectum adenocarcinoma(4;0.219)	2	129	+			5					A7E233|Q6WQJ0	Missense_Mutation	SNP	ENST00000257215.5	37	c.13G>A	CCDS31578.1	.	.	.	.	.	.	.	.	.	.	G	24.5	4.541020	0.85917	.	.	ENSG00000134780	ENST00000257215	T	0.28069	1.63	3.85	3.85	0.44370	.	0.000000	0.85682	D	0.000000	T	0.54935	0.1889	M	0.72353	2.195	0.80722	D	1	D	0.89917	1.0	D	0.76575	0.988	T	0.63005	-0.6733	10	0.87932	D	0	-26.7494	16.6943	0.85330	0.0:0.0:1.0:0.0	.	5	Q9Y4D2	DGLA_HUMAN	M	5	ENSP00000257215:V5M	ENSP00000257215:V5M	V	+	1	0	DAGLA	61244216	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.035000	0.93752	2.087000	0.62958	0.555000	0.69702	GTG		0.622	DAGLA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398516.1	NM_006133		3	84	0	0	0	1	0	3	84					A	61487640	G	A	61487640	3	1	234	1	0	0	0	0	1	0	0	0	4226	1145	40	1	15	1	DAGLA	11	61487640	Missense_Mutation	SNP	G	TCGA-HC-8261-01A-11D-2260-08	2262612	61487640	73518876	20	10884											
SLC39A5	283375	broad.mit.edu	37	chr12	56628745	56628745	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcatcggcgctccggccccTgcacccccaggggatctact	5	7	11	18	3	1	0	0	0	1	0	3	1	2	1	5	4	3	3	5	4	1	1			TCGA-HC-8261-01A-11D-2260-08	TCGA-HC-8261-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	087237e9-564b-46b8-8f1d-8de3406314b1	e0965003-39bc-46d9-83a7-7df655bdbf56	g.chr12:56628745T>A	ENST00000266980.4	+	4	902	c.609T>A	c.(607-609)ccT>ccA	p.P203P	ANKRD52_ENST00000548241.1_5'Flank|SLC39A5_ENST00000454355.2_Silent_p.P203P	NM_001135195.1	NP_001128667.1	Q6ZMH5	S39A5_HUMAN	solute carrier family 39 (zinc transporter), member 5	203					cellular response to zinc ion starvation (GO:0034224)|G1 to G0 transition involved in cell differentiation (GO:0070315)|neural precursor cell proliferation (GO:0061351)|transmembrane transport (GO:0055085)|zinc ion transport (GO:0006829)	basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	metal ion transmembrane transporter activity (GO:0046873)			NS(1)|cervix(6)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						CTCCGGCCCCTGCACCCCCAG	0.627																																						ENST00000266980.4																			0				NS(1)|cervix(6)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(607-609)ccT>ccA		solute carrier family 39 (zinc transporter), member 5							77	88	84					12																	56628745		2203	4300	6503	SO:0001819	synonymous_variant	283375				zinc ion transport	basolateral plasma membrane|integral to membrane	metal ion transmembrane transporter activity	g.chr12:56628745T>A		CCDS8912.2	12q13.3	2013-07-17	2013-07-17		ENSG00000139540	ENSG00000139540		"Solute carriers"	20502	protein-coding gene	gene with protein product		608730	"solute carrier family 39 (metal ion transporter), member 5"				Standard	NM_173596		Approved		uc010sqj.2	Q6ZMH5	OTTHUMG00000156962	ENST00000266980.4:c.609T>A	12.37:g.56628745T>A						SLC39A5_ENST00000454355.2_Silent_p.P203P	p.P203P	NM_001135195.1	NP_001128667.1	Q6ZMH5	S39A5_HUMAN			4	902	+			203					B2R808|Q8N6Y3	Silent	SNP	ENST00000266980.4	37	c.609T>A	CCDS8912.2																																																																																				0.627	SLC39A5-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346834.1	NM_173596		46	102	0	0	0	1	0	46	102					A	56628745	T	A	56628745	2	1	234	1	0	0	0	0	0	0	0	1	14621	1567	55	5		5	SLC39A5	12	56628745	Silent	SNP	T	TCGA-HC-8261-01A-11D-2260-08		56628745	77223150	21	10885											
HNF1A	6927	broad.mit.edu	37	chr12	121434123	121434123	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagtaccctcaagcagcggCggtcccttagtgacagtgtc	9	8	12	12	2	1	1	1	1	0	0	3	2	2	1	2	2	3	2	2	2	4	2			TCGA-HC-8261-01A-11D-2260-08	TCGA-HC-8261-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	087237e9-564b-46b8-8f1d-8de3406314b1	e0965003-39bc-46d9-83a7-7df655bdbf56	g.chr12:121434123C>T	ENST00000257555.6	+	5	1240	c.1014C>T	c.(1012-1014)ggC>ggT	p.G338G	HNF1A_ENST00000541395.1_Silent_p.G338G|HNF1A_ENST00000538626.1_Intron|HNF1A_ENST00000543427.1_Silent_p.G221G|HNF1A_ENST00000544413.1_Silent_p.G338G|HNF1A_ENST00000400024.2_Silent_p.G338G|HNF1A_ENST00000402929.1_Silent_p.G338G			P20823	HNF1A_HUMAN	HNF1 homeobox A	338					glucose homeostasis (GO:0042593)|glucose import (GO:0046323)|insulin secretion (GO:0030073)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|renal glucose absorption (GO:0035623)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|protein dimerization activity (GO:0046983)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(8)|large_intestine(19)|liver(175)|lung(9)|ovary(2)|prostate(1)|urinary_tract(1)	221	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					CAAGCAGCGGCGGTCCCTTAG	0.622									Hepatic Adenoma, Familial Clustering of																													ENST00000257555.6																			0				breast(3)|central_nervous_system(2)|cervix(1)|endometrium(8)|large_intestine(19)|liver(175)|lung(9)|ovary(2)|prostate(1)|urinary_tract(1)	221						c.(1012-1014)ggC>ggT		HNF1 homeobox A							150	112	125					12																	121434123		2203	4300	6503	SO:0001819	synonymous_variant	6927	Hepatic Adenoma, Familial Clustering of	Familial Cancer Database	incl. Maturity-Onset Diabetes of the Young type 3, MODY3	glucose homeostasis|glucose import|insulin secretion|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|renal glucose absorption	cytoplasm|nucleus|protein complex	DNA binding|protein dimerization activity|protein heterodimerization activity|protein homodimerization activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	g.chr12:121434123C>T	M57732	CCDS9209.1	12q24.31	2014-09-17	2007-08-24	2007-08-24	ENSG00000135100	ENSG00000135100		"Homeoboxes / HNF class"	11621	protein-coding gene	gene with protein product		142410	"transcription factor 1, hepatic; LF-B1, hepatic nuclear factor (HNF1), albumin proximal factor"	MODY3, TCF1		1535333, 7795649	Standard	NM_000545		Approved	HNF1, LFB1	uc001tzg.3	P20823	OTTHUMG00000151015	ENST00000257555.6:c.1014C>T	12.37:g.121434123C>T						HNF1A_ENST00000544413.1_Silent_p.G338G|HNF1A_ENST00000543427.1_Silent_p.G221G|HNF1A_ENST00000538626.1_Intron|HNF1A_ENST00000402929.1_Silent_p.G338G|HNF1A_ENST00000400024.2_Silent_p.G338G|HNF1A_ENST00000541395.1_Silent_p.G338G	p.G338G			P20823	HNF1A_HUMAN			5	1240	+	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)		338					A5Z2R8|E0YMJ5|E0YMK0|E0YMK1|E2I9R4|E2I9R5|F5H5U3|Q2M3H2|Q99861	Silent	SNP	ENST00000257555.6	37	c.1014C>T	CCDS9209.1																																																																																				0.622	HNF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320957.5	NM_000545		18	171	0	0	0	1	0	18	171					T	121434123	C	T	121434123	2	4	234	1	0	0	0	0	0	0	0	1	7251	755	27	1		1	HNF1A	12	121434123	Silent	SNP	C	TCGA-HC-8261-01A-11D-2260-08	64805378	121434123	12417772	22	10886											
CHD8	57680	broad.mit.edu	37	chr14	21860705	21860705	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aactccttttcatccatgccTcggcgaagtttggtgaactg	8	13	9	11	2	1	1	1	1	0	0	4	2	3	1	3	2	3	1	3	2	3	3			TCGA-HC-8261-01A-11D-2260-08	TCGA-HC-8261-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	087237e9-564b-46b8-8f1d-8de3406314b1	e0965003-39bc-46d9-83a7-7df655bdbf56	g.chr14:21860705T>A	ENST00000557364.1	-	34	6995	c.6732A>T	c.(6730-6732)cgA>cgT	p.R2244R	SNORD9_ENST00000362566.1_RNA|CHD8_ENST00000555962.1_5'Flank|CHD8_ENST00000430710.3_Silent_p.R1965R|CHD8_ENST00000399982.2_Silent_p.R2244R			Q9HCK8	CHD8_HUMAN	chromodomain helicase DNA binding protein 8	2244					ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|canonical Wnt signaling pathway (GO:0060070)|DNA duplex unwinding (GO:0032508)|in utero embryonic development (GO:0001701)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of Wnt signaling pathway (GO:0030178)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	MLL1 complex (GO:0071339)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|beta-catenin binding (GO:0008013)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA-dependent ATPase activity (GO:0008094)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|p53 binding (GO:0002039)			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)		CATCCATGCCTCGGCGAAGTT	0.517																																						ENST00000399982.2																			0				NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85						c.(6730-6732)cgA>cgT		chromodomain helicase DNA binding protein 8							147	150	149					14																	21860705		2065	4218	6283	SO:0001819	synonymous_variant	57680				ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	MLL1 complex	ATP binding|beta-catenin binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|methylated histone residue binding|p53 binding	g.chr14:21860705T>A	AB046784	CCDS45081.1, CCDS53885.1	14q11.2	2008-02-05	2004-06-22	2004-06-23		ENSG00000100888			20153	protein-coding gene	gene with protein product		610528	"helicase with SNF2 domain 1"	HELSNF1		10997877	Standard	NM_020920		Approved	KIAA1564, DUPLIN	uc001war.2	Q9HCK8		ENST00000557364.1:c.6732A>T	14.37:g.21860705T>A						CHD8_ENST00000430710.3_Silent_p.R1965R|CHD8_ENST00000557364.1_Silent_p.R2244R	p.R2244R	NM_001170629.1	NP_001164100.1	Q9HCK8	CHD8_HUMAN	Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)	33	6796	-	all_cancers(95;0.00121)		2244					Q4G0D8|Q68DQ0|Q6DKH9|Q6P440|Q6ZNL7|Q8N3Z9|Q8NCY4|Q8TBR9|Q96F26	Silent	SNP	ENST00000557364.1	37	c.6732A>T	CCDS53885.1																																																																																				0.517	CHD8-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410436.1	NM_020920		13	194	0	0	0	1	0	13	194					A	21860705	T	A	21860705	2	1	234	1	0	0	0	0	0	0	0	1	3331	1538	54	5		5	CHD8	14	21860705	Silent	SNP	T	TCGA-HC-8261-01A-11D-2260-08		21860705	85488835	23	10887											
SRP54	6729	broad.mit.edu	37	chr14	35470176	35470176	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttgaagagatggcatctggtCttaacaaaagaaaaatgatt	17	11	9	4	0	2	4	0	2	2	2	2	5	2	4	0	2	1	1	0	2	6	3			TCGA-HC-8261-01A-11D-2260-08	TCGA-HC-8261-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	087237e9-564b-46b8-8f1d-8de3406314b1	e0965003-39bc-46d9-83a7-7df655bdbf56	g.chr14:35470176C>G	ENST00000556994.1	+	5	602	c.205C>G	c.(205-207)Ctt>Gtt	p.L69V	SRP54_ENST00000546080.1_Missense_Mutation_p.L20V|SRP54_ENST00000555535.1_3'UTR|SRP54_ENST00000555557.1_Missense_Mutation_p.L5V|SRP54_ENST00000216774.6_Missense_Mutation_p.L69V			P61011	SRP54_HUMAN	signal recognition particle 54kDa	69	G-domain.				cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|GTP catabolic process (GO:0006184)|protein targeting to ER (GO:0045047)|response to drug (GO:0042493)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|SRP-dependent cotranslational protein targeting to membrane, signal sequence recognition (GO:0006617)|SRP-dependent cotranslational protein targeting to membrane, translocation (GO:0006616)|translation (GO:0006412)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleus (GO:0005634)|signal recognition particle, endoplasmic reticulum targeting (GO:0005786)	7S RNA binding (GO:0008312)|drug binding (GO:0008144)|endoplasmic reticulum signal peptide binding (GO:0030942)|GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|ribonucleoprotein complex binding (GO:0043021)	p.L69V(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	14	Breast(36;0.0545)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(48;2.48e-05)|Lung(238;3.13e-05)|Epithelial(34;0.0314)|all cancers(34;0.0797)|BRCA - Breast invasive adenocarcinoma(188;0.243)	GBM - Glioblastoma multiforme(112;0.0396)		GGCATCTGGTCTTAACAAAAG	0.353																																						ENST00000556994.1																			1	Substitution - Missense(1)	p.L69V(1)	upper_aerodigestive_tract(1)	NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	14						c.(205-207)Ctt>Gtt		signal recognition particle 54kDa							92	84	87					14																	35470176		2203	4300	6503	SO:0001583	missense	6729				GTP catabolic process|response to drug|SRP-dependent cotranslational protein targeting to membrane, signal sequence recognition|SRP-dependent cotranslational protein targeting to membrane, translocation	cytosol|nuclear speck|signal recognition particle, endoplasmic reticulum targeting	7S RNA binding|drug binding|endoplasmic reticulum signal peptide binding|GDP binding|GTP binding|nucleoside-triphosphatase activity|ribonucleoprotein binding	g.chr14:35470176C>G	X86373	CCDS9652.1, CCDS53893.1	14q13.2	2014-06-02	2002-08-29		ENSG00000100883	ENSG00000100883			11301	protein-coding gene	gene with protein product		604857	"signal recognition particle 54kD"			8722571	Standard	NM_003136		Approved		uc001wso.3	P61011	OTTHUMG00000140214	ENST00000556994.1:c.205C>G	14.37:g.35470176C>G	ENSP00000451818:p.Leu69Val					SRP54_ENST00000546080.1_Missense_Mutation_p.L20V|SRP54_ENST00000216774.6_Missense_Mutation_p.L69V|SRP54_ENST00000555557.1_Missense_Mutation_p.L5V|SRP54_ENST00000555535.1_3'UTR	p.L69V			P61011	SRP54_HUMAN	LUAD - Lung adenocarcinoma(48;2.48e-05)|Lung(238;3.13e-05)|Epithelial(34;0.0314)|all cancers(34;0.0797)|BRCA - Breast invasive adenocarcinoma(188;0.243)	GBM - Glioblastoma multiforme(112;0.0396)	5	602	+	Breast(36;0.0545)|Hepatocellular(127;0.158)		69			G-domain.		B2R759|B4DUW6|P13624	Missense_Mutation	SNP	ENST00000556994.1	37	c.205C>G	CCDS9652.1	.	.	.	.	.	.	.	.	.	.	C	4.377	0.069451	0.08436	.	.	ENSG00000100883	ENST00000556994;ENST00000555746;ENST00000216774;ENST00000546080;ENST00000555557	.	.	.	5.64	4.76	0.60689	Signal recognition particle, SRP54 subunit, helical bundle (4);	0.124743	0.52532	D	0.000066	T	0.47173	0.1431	L	0.39566	1.225	0.80722	D	1	B;B	0.10296	0.0;0.003	B;B	0.10450	0.001;0.005	T	0.39333	-0.9619	9	0.34782	T	0.22	-10.8702	10.8727	0.46894	0.0:0.8567:0.0:0.1433	.	20;69	B4DUW6;P61011	.;SRP54_HUMAN	V	69;69;69;20;5	.	ENSP00000216774:L69V	L	+	1	0	SRP54	34539927	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.789000	0.62446	1.531000	0.49152	0.643000	0.83706	CTT		0.353	SRP54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276643.2	NM_003136		9	30	0	0	0	1	0	9	30					G	35470176	C	G	35470176	3	3	234	1	0	0	0	0	1	0	0	0	15154	913	32	5	215	5	SRP54	14	35470176	Missense_Mutation	SNP	C	TCGA-HC-8261-01A-11D-2260-08	13609471	35470176	71879364	24	10888											
SIPA1L1	26037	broad.mit.edu	37	chr14	72176033	72176033	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaagtggtacgatggggaccGcacagaatccgaactcaaca	14	5	12	10	3	1	1	1	0	0	1	2	5	2	2	2	3	3	2	2	3	5	1			TCGA-HC-8261-01A-11D-2260-08	TCGA-HC-8261-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	087237e9-564b-46b8-8f1d-8de3406314b1	e0965003-39bc-46d9-83a7-7df655bdbf56	g.chr14:72176033G>A	ENST00000555818.1	+	15	4271	c.3923G>A	c.(3922-3924)cGc>cAc	p.R1308H	SIPA1L1_ENST00000358550.2_Missense_Mutation_p.R1287H|SIPA1L1_ENST00000537413.1_Missense_Mutation_p.R762H|SIPA1L1_ENST00000381232.3_Missense_Mutation_p.R1287H|SIPA1L1_ENST00000554874.1_3'UTR	NM_001284247.1|NM_015556.1	NP_001271176.1|NP_056371.1	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like 1	1308	Ser-rich.				actin cytoskeleton reorganization (GO:0031532)|activation of Rap GTPase activity (GO:0032861)|ephrin receptor signaling pathway (GO:0048013)|regulation of axonogenesis (GO:0050770)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of Rap GTPase activity (GO:0032317)|regulation of synaptic plasticity (GO:0048167)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	GTPase activator activity (GO:0005096)			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		GATGGGGACCGCACAGAATCC	0.537																																						ENST00000555818.1																			0				NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78						c.(3922-3924)cGc>cAc		signal-induced proliferation-associated 1 like 1							117	91	100					14																	72176033		2203	4300	6503	SO:0001583	missense	26037				actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis	cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome	GTPase activator activity	g.chr14:72176033G>A	AB007900	CCDS9807.1, CCDS61490.1, CCDS61491.1	14q24.1	2003-12-11				ENSG00000197555			20284	protein-coding gene	gene with protein product						9858596	Standard	XM_005267514		Approved	KIAA0440, E6TP1	uc001xmr.1	O43166		ENST00000555818.1:c.3923G>A	14.37:g.72176033G>A	ENSP00000450832:p.Arg1308His					SIPA1L1_ENST00000537413.1_Missense_Mutation_p.R762H|SIPA1L1_ENST00000381232.3_Missense_Mutation_p.R1287H|SIPA1L1_ENST00000358550.2_Missense_Mutation_p.R1287H|SIPA1L1_ENST00000554874.1_3'UTR	p.R1308H	NM_015556.1	NP_056371.1	O43166	SI1L1_HUMAN		all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)	15	4271	+			1308			Ser-rich.		J3KP19|O95321|Q9UDU4|Q9UNU4	Missense_Mutation	SNP	ENST00000555818.1	37	c.3923G>A	CCDS9807.1	.	.	.	.	.	.	.	.	.	.	G	23.6	4.431532	0.83776	.	.	ENSG00000197555	ENST00000381232;ENST00000555818;ENST00000358550;ENST00000537413	T;T;T;T	0.58210	0.35;0.35;0.35;0.35	5.79	4.9	0.64082	.	0.368176	0.32901	N	0.005506	T	0.63331	0.2502	L	0.40543	1.245	0.58432	D	0.999998	D;B;D;D;D	0.89917	0.996;0.001;0.989;0.999;1.0	P;B;P;D;D	0.74674	0.838;0.001;0.648;0.934;0.984	T	0.63395	-0.6647	10	0.44086	T	0.13	-13.6908	14.598	0.68419	0.0695:0.0:0.9305:0.0	.	762;1308;762;1287;1308	F5GYF8;A6H8W6;B4DYX7;O43166-2;O43166	.;.;.;.;SI1L1_HUMAN	H	1287;1308;1287;762	ENSP00000370630:R1287H;ENSP00000450832:R1308H;ENSP00000351352:R1287H;ENSP00000440682:R762H	ENSP00000351352:R1308H	R	+	2	0	SIPA1L1	71245786	1.000000	0.71417	0.998000	0.56505	0.958000	0.62258	4.822000	0.62686	1.453000	0.47775	0.655000	0.94253	CGC		0.537	SIPA1L1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412806.1	NM_015556		3	117	0	0	0	1	0	3	117					A	72176033	G	A	72176033	3	1	234	1	0	0	0	0	1	0	0	0	14329	1087	38	1	3977	1	SIPA1L1	14	72176033	Missense_Mutation	SNP	G	TCGA-HC-8261-01A-11D-2260-08	36705857	72176033	35173507	25	10889											
TDP1	55775	broad.mit.edu	37	chr14	90442141	90442141	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctaggcaaagttggatattgCgtttggaacacaccacacgt	12	10	10	9	2	0	0	0	0	0	0	0	2	0	2	1	3	2	3	1	3	4	5			TCGA-HC-8261-01A-11D-2260-08	TCGA-HC-8261-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	087237e9-564b-46b8-8f1d-8de3406314b1	e0965003-39bc-46d9-83a7-7df655bdbf56	g.chr14:90442141C>T	ENST00000335725.4	+	7	1023	c.773C>T	c.(772-774)gCg>gTg	p.A258V	TDP1_ENST00000393454.2_Missense_Mutation_p.A258V|TDP1_ENST00000393452.3_Missense_Mutation_p.A258V|TDP1_ENST00000555565.1_3'UTR|TDP1_ENST00000357382.3_Intron|TDP1_ENST00000555880.1_Missense_Mutation_p.A258V	NM_018319.3	NP_060789.2	Q9NUW8	TYDP1_HUMAN	tyrosyl-DNA phosphodiesterase 1	258					cell death (GO:0008219)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|single strand break repair (GO:0000012)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	3'-tyrosyl-DNA phosphodiesterase activity (GO:0017005)|double-stranded DNA binding (GO:0003690)|exonuclease activity (GO:0004527)|single-stranded DNA binding (GO:0003697)			NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|prostate(1)|urinary_tract(1)	25		all_cancers(154;0.185)		COAD - Colon adenocarcinoma(157;0.23)		TTGGATATTGCGTTTGGAACA	0.373								Repair of DNA-protein crosslinks																														ENST00000335725.4																			0				NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|prostate(1)|urinary_tract(1)	25						c.(772-774)gCg>gTg	Repair of DNA-protein crosslinks	tyrosyl-DNA phosphodiesterase 1							200	192	195					14																	90442141		2203	4300	6503	SO:0001583	missense	55775				cell death|double-strand break repair|single strand break repair	cytoplasm|nucleus	3'-tyrosyl-DNA phosphodiesterase activity|double-stranded DNA binding|exonuclease activity|protein binding|single-stranded DNA binding	g.chr14:90442141C>T	AF182002	CCDS9888.1	14q32.11	2008-08-11				ENSG00000042088			18884	protein-coding gene	gene with protein product		607198				11839309, 12244316	Standard	XM_005267847		Approved	FLJ11090, SCAN1	uc001xxz.3	Q9NUW8		ENST00000335725.4:c.773C>T	14.37:g.90442141C>T	ENSP00000337353:p.Ala258Val					TDP1_ENST00000393454.2_Missense_Mutation_p.A258V|TDP1_ENST00000555565.1_3'UTR|TDP1_ENST00000357382.3_Intron|TDP1_ENST00000393452.3_Missense_Mutation_p.A258V|TDP1_ENST00000555880.1_Missense_Mutation_p.A258V	p.A258V	NM_018319.3	NP_060789.2	Q9NUW8	TYDP1_HUMAN		COAD - Colon adenocarcinoma(157;0.23)	7	1023	+		all_cancers(154;0.185)	258					Q2HXX4|Q86TV8|Q96BK7|Q9NZM7|Q9NZM8	Missense_Mutation	SNP	ENST00000335725.4	37	c.773C>T	CCDS9888.1	.	.	.	.	.	.	.	.	.	.	C	16.70	3.195577	0.58126	.	.	ENSG00000042088	ENST00000393452;ENST00000554180;ENST00000393454;ENST00000553617;ENST00000335725;ENST00000555880	T;T;T;T;T;T	0.46063	0.88;0.88;0.88;0.88;0.88;0.88	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	T	0.50667	0.1629	M	0.63843	1.955	0.80722	D	1	D;D;D	0.71674	0.998;0.998;0.998	P;P;P	0.48189	0.553;0.57;0.57	T	0.43766	-0.9371	10	0.35671	T	0.21	-27.5436	19.0882	0.93215	0.0:1.0:0.0:0.0	.	258;258;258	G3V2F4;E7EPD8;Q9NUW8	.;.;TYDP1_HUMAN	V	258;258;258;159;258;258	ENSP00000377098:A258V;ENSP00000450872:A258V;ENSP00000377099:A258V;ENSP00000450708:A159V;ENSP00000337353:A258V;ENSP00000450628:A258V	ENSP00000337353:A258V	A	+	2	0	TDP1	89511894	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.366000	0.66122	2.809000	0.96659	0.557000	0.71058	GCG		0.373	TDP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411239.1	NM_018319		35	72	0	0	0	1	0	35	72					T	90442141	C	T	90442141	3	4	234	1	0	0	0	0	1	0	0	0	15725	768	27	1	791	1	TDP1	14	90442141	Missense_Mutation	SNP	C	TCGA-HC-8261-01A-11D-2260-08	18266108	90442141	16907399	26	10890											
CHGA	1113	broad.mit.edu	37	chr14	93399080	93399080	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccctgggccgcagctgcgaCgaggctggaggccatcctcc	5	5	15	16	3	0	0	0	0	0	0	2	3	2	1	5	4	2	3	5	4	0	0			TCGA-HC-8261-01A-11D-2260-08	TCGA-HC-8261-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	087237e9-564b-46b8-8f1d-8de3406314b1	e0965003-39bc-46d9-83a7-7df655bdbf56	g.chr14:93399080C>T	ENST00000216492.5	+	7	1454	c.1174C>T	c.(1174-1176)Cga>Tga	p.R392*	CHGA_ENST00000334654.4_Nonsense_Mutation_p.R241*	NM_001275.3	NP_001266.1	P10645	CMGA_HUMAN	chromogranin A (parathyroid secretory protein 1)	392					regulation of blood pressure (GO:0008217)	extracellular region (GO:0005576)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|secretory granule (GO:0030141)				cervix(1)|large_intestine(1)|lung(3)|skin(3)	8		all_cancers(154;0.0843)		Epithelial(152;0.102)|COAD - Colon adenocarcinoma(157;0.208)|all cancers(159;0.224)		GCAGCTGCGACGAGGCTGGAG	0.701																																					Colon(31;154 822 45066 49155)|NSCLC(28;804 1157 13734 25204)	ENST00000216492.5																			0				cervix(1)|large_intestine(1)|lung(3)|skin(3)	8						c.(1174-1176)Cga>Tga		chromogranin A (parathyroid secretory protein 1)							12	14	13					14																	93399080		2192	4278	6470	SO:0001587	stop_gained	1113				regulation of blood pressure	extracellular region|stored secretory granule		g.chr14:93399080C>T		CCDS9906.1	14q32	2012-10-02			ENSG00000100604	ENSG00000100604			1929	protein-coding gene	gene with protein product	"vasostatin", "pancreastatin", "parastatin"	118910				3403545	Standard	NM_001275		Approved		uc001ybc.4	P10645		ENST00000216492.5:c.1174C>T	14.37:g.93399080C>T	ENSP00000216492:p.Arg392*					CHGA_ENST00000334654.4_Nonsense_Mutation_p.R241*	p.R392*	NM_001275.3	NP_001266.1	P10645	CMGA_HUMAN		Epithelial(152;0.102)|COAD - Colon adenocarcinoma(157;0.208)|all cancers(159;0.224)	7	1454	+		all_cancers(154;0.0843)	392					B2R9E9|Q53FA8|Q6NR84|Q96E84|Q96GL7|Q9BQB5	Nonsense_Mutation	SNP	ENST00000216492.5	37	c.1174C>T	CCDS9906.1	.	.	.	.	.	.	.	.	.	.	C	35	5.419970	0.96111	.	.	ENSG00000100604	ENST00000216492;ENST00000334654	.	.	.	4.71	2.62	0.31277	.	0.400442	0.21601	N	0.071941	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-1.3963	8.1442	0.31102	0.3287:0.5366:0.1347:0.0	.	.	.	.	X	392;241	.	ENSP00000216492:R392X	R	+	1	2	CHGA	92468833	0.869000	0.29996	0.109000	0.21407	0.345000	0.29048	1.147000	0.31602	0.932000	0.37266	0.555000	0.69702	CGA		0.701	CHGA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412411.1	NM_001275		6	10	0	0	0	1	0	6	10					T	93399080	C	T	93399080	4	4	234	1	0	0	0	0	0	1	0	0	3338	528	19	1	1200	1	CHGA	14	93399080	Nonsense_Mutation	SNP	C	TCGA-HC-8261-01A-11D-2260-08	2956939	93399080	13950460	27	10891											
JAG2	3714	broad.mit.edu	37	chr14	105618060	105618060	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccgttggcacacgggttggaGgtgcaggcgtgctcagctgt	5	9	17	10	3	1	0	1	0	0	0	1	1	1	1	1	5	3	6	1	5	0	2			TCGA-HC-8261-01A-11D-2260-08	TCGA-HC-8261-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	087237e9-564b-46b8-8f1d-8de3406314b1	e0965003-39bc-46d9-83a7-7df655bdbf56	g.chr14:105618060G>A	ENST00000331782.3	-	8	1459	c.1056C>T	c.(1054-1056)acC>acT	p.T352T	RP11-44N21.4_ENST00000548203.1_RNA|JAG2_ENST00000347004.2_Silent_p.T352T	NM_002226.4	NP_002217.3	Q9Y219	JAG2_HUMAN	jagged 2	352	EGF-like 4. {ECO:0000255|PROSITE- ProRule:PRU00076}.				auditory receptor cell fate commitment (GO:0009912)|cell cycle (GO:0007049)|cell differentiation (GO:0030154)|epithelial cell apoptotic process involved in palatal shelf morphogenesis (GO:1990134)|gamma-delta T cell differentiation (GO:0042492)|in utero embryonic development (GO:0001701)|morphogenesis of embryonic epithelium (GO:0016331)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|odontogenesis of dentin-containing tooth (GO:0042475)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|respiratory system process (GO:0003016)|skeletal system development (GO:0001501)|spermatogenesis (GO:0007283)|T cell differentiation (GO:0030217)|thymic T cell selection (GO:0045061)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|growth factor activity (GO:0008083)|Notch binding (GO:0005112)			breast(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(7)|prostate(2)|skin(5)	22		all_cancers(154;0.0336)|all_epithelial(191;0.0729)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00989)|all cancers(16;0.0114)|Epithelial(46;0.0272)	Epithelial(152;0.047)|OV - Ovarian serous cystadenocarcinoma(161;0.148)|all cancers(159;0.208)		ACGGGTTGGAGGTGCAGGCGT	0.682																																						ENST00000331782.3																			0				breast(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(7)|prostate(2)|skin(5)	22						c.(1054-1056)acC>acT		jagged 2							30	27	28					14																	105618060		2198	4298	6496	SO:0001819	synonymous_variant	3714				auditory receptor cell fate commitment|cell communication|cell cycle|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation|spermatogenesis|thymic T cell selection	integral to plasma membrane	calcium ion binding|growth factor activity|Notch binding	g.chr14:105618060G>A	AF020201	CCDS9998.1, CCDS9999.1	14q32	2008-08-01			ENSG00000184916	ENSG00000184916			6189	protein-coding gene	gene with protein product		602570				9315665, 10662552	Standard	NM_002226		Approved		uc001yqg.4	Q9Y219	OTTHUMG00000140172	ENST00000331782.3:c.1056C>T	14.37:g.105618060G>A						JAG2_ENST00000347004.2_Silent_p.T352T	p.T352T	NM_002226.4	NP_002217.3	Q9Y219	JAG2_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.00989)|all cancers(16;0.0114)|Epithelial(46;0.0272)	Epithelial(152;0.047)|OV - Ovarian serous cystadenocarcinoma(161;0.148)|all cancers(159;0.208)	8	1459	-		all_cancers(154;0.0336)|all_epithelial(191;0.0729)|Melanoma(154;0.155)	352			EGF-like 4.		Q9UE17|Q9UE99|Q9UNK8|Q9Y6P9|Q9Y6Q0	Silent	SNP	ENST00000331782.3	37	c.1056C>T	CCDS9998.1																																																																																				0.682	JAG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276506.2			3	34	0	0	0	1	0	3	34					A	105618060	G	A	105618060	2	1	234	1	0	0	0	0	0	0	0	1	7935	987	35	3		3	JAG2	14	105618060	Silent	SNP	G	TCGA-HC-8261-01A-11D-2260-08	12218980	105618060	1731480	28	10892											
USP8	9101	broad.mit.edu	37	chr15	50790907	50790907	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aagaacaatttgaagaaataTaatttgttttctgtttcagt	15	17	6	3	0	2	3	1	1	1	2	2	3	2	3	0	0	1	2	0	0	7	7			TCGA-HC-8261-01A-11D-2260-08	TCGA-HC-8261-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	087237e9-564b-46b8-8f1d-8de3406314b1	e0965003-39bc-46d9-83a7-7df655bdbf56	g.chr15:50790907T>C	ENST00000396444.3	+	19	3491	c.3153T>C	c.(3151-3153)taT>taC	p.Y1051Y	USP8_ENST00000425032.3_Silent_p.Y945Y|USP8_ENST00000307179.4_Silent_p.Y1051Y|RP11-562A8.4_ENST00000560380.1_RNA|RP11-562A8.5_ENST00000560159.1_lincRNA|USP8_ENST00000433963.1_Silent_p.Y1051Y|USP50_ENST00000530218.1_5'Flank	NM_001128610.1|NM_005154.3	NP_001122082.1|NP_005145.3	P40818	UBP8_HUMAN	ubiquitin specific peptidase 8	1051	USP.				cell proliferation (GO:0008283)|endosome organization (GO:0007032)|mitotic cytokinesis (GO:0000281)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|Ras protein signal transduction (GO:0007265)|ubiquitin-dependent protein catabolic process (GO:0006511)	acrosomal vesicle (GO:0001669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|extrinsic component of plasma membrane (GO:0019897)|midbody (GO:0030496)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|ubiquitin-specific protease activity (GO:0004843)			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35				all cancers(107;0.000225)|GBM - Glioblastoma multiforme(94;0.000771)		TGAAGAAATATAATTTGTTTT	0.328																																						ENST00000433963.1																			0				central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						c.(3151-3153)taT>taC		ubiquitin specific peptidase 8							44	49	47					15																	50790907		2196	4292	6488	SO:0001819	synonymous_variant	9101				cell cycle|cell proliferation|endosome organization|protein K48-linked deubiquitination|protein K63-linked deubiquitination|ubiquitin-dependent protein catabolic process	cytosol|early endosome|extrinsic to plasma membrane|nucleus	cysteine-type endopeptidase activity|SH3 domain binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr15:50790907T>C	D29956	CCDS10137.1, CCDS61632.1	15q21.1	2014-03-03	2005-08-08		ENSG00000138592	ENSG00000138592		"Ubiquitin-specific peptidases"	12631	protein-coding gene	gene with protein product		603158	"ubiquitin specific protease 8"			12838346, 9582025, 24482476	Standard	NM_005154		Approved	HumORF8, KIAA0055, UBPY, SPG59	uc001zyl.4	P40818	OTTHUMG00000131645	ENST00000396444.3:c.3153T>C	15.37:g.50790907T>C						RP11-562A8.4_ENST00000560380.1_RNA|USP8_ENST00000425032.3_Silent_p.Y945Y|USP8_ENST00000307179.4_Silent_p.Y1051Y|USP8_ENST00000396444.3_Silent_p.Y1051Y	p.Y1051Y	NM_001128611.1	NP_001122083.1	P40818	UBP8_HUMAN		all cancers(107;0.000225)|GBM - Glioblastoma multiforme(94;0.000771)	20	3653	+			1051					B4DKA8|Q2TB31|Q7Z3U2|Q86VA0|Q8IWI7	Silent	SNP	ENST00000396444.3	37	c.3153T>C	CCDS10137.1																																																																																				0.328	USP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254541.1	NM_005154		15	41	0	0	0	1	0	15	41					C	50790907	T	C	50790907	2	2	234	1	0	0	0	0	0	0	0	1	17086	1413	49	4		4	USP8	15	50790907	Silent	SNP	T	TCGA-HC-8261-01A-11D-2260-08		50790907	51740485	29	10893											
MSLNL	401827	broad.mit.edu	37	chr16	830799	830799	+	Intron	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	taggtgacggtgtgcacgggTaggtgacagctgtgtgcacg	7	9	18	7	3	0	2	0	2	0	0	0	2	0	2	0	4	3	4	0	4	2	2			TCGA-HC-8261-01A-11D-2260-08	TCGA-HC-8261-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	087237e9-564b-46b8-8f1d-8de3406314b1	e0965003-39bc-46d9-83a7-7df655bdbf56	g.chr16:830799T>G	ENST00000442466.1	-	2	37				MSLNL_ENST00000293892.3_Missense_Mutation_p.T68P			Q96KJ4	MSLNL_HUMAN	mesothelin-like						cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(15)|ovary(2)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	36						TGTGCACGGGTAGGTGACAGC	0.592																																						ENST00000293892.3																			0				breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(15)|ovary(2)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	36						c.(202-204)Acc>Ccc		mesothelin-like							143	138	140					16																	830799		2127	4240	6367	SO:0001627	intron_variant	401827				cell adhesion	integral to membrane		g.chr16:830799T>G			16p13.3	2008-08-06	2008-07-04	2008-07-04	ENSG00000162006	ENSG00000162006			14170	protein-coding gene	gene with protein product			"chromosome 16 open reading frame 37"	C16orf37			Standard	NG_032123		Approved	MPFL		Q96KJ4		ENST00000442466.1:c.38-637A>C	16.37:g.830799T>G						MSLNL_ENST00000442466.1_Intron	p.T68P			Q96KJ4	MSLNL_HUMAN			3	201	-			0						Missense_Mutation	SNP	ENST00000442466.1	37	c.202A>C		.	.	.	.	.	.	.	.	.	.	-	0.050	-1.254173	0.01457	.	.	ENSG00000162006	ENST00000293892	T	0.23950	1.88	1.06	-2.13	0.07144	.	.	.	.	.	T	0.16854	0.0405	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.15065	-1.0450	5	.	.	.	.	5.6142	0.17422	0.0:0.2906:0.5047:0.2047	.	.	.	.	P	68	ENSP00000293892:T68P	.	T	-	1	0	MSLNL	770800	0.000000	0.05858	0.000000	0.03702	0.015000	0.08874	-5.354000	0.00129	-3.380000	0.00175	-1.687000	0.00730	ACC		0.592	MSLNL-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_001025190		6	173	0	0	0	1	0	6	173					G	830799	T	G	830799	1	3	234	0	1	0	0	0	0	0	0	0	9882	1638	57	5		5	MSLNL	16	830799	Intron	SNP	T	TCGA-HC-8261-01A-11D-2260-08		830799	89523954	30	10894											
EEF2K	29904	broad.mit.edu	37	chr16	22260091	22260091	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcaggtacaacgccgtcacCggggaatggctggatgatga	10	7	15	9	3	1	2	1	2	0	0	1	4	1	4	2	5	3	3	2	5	3	1	rs199516774		TCGA-HC-8261-01A-11D-2260-08	TCGA-HC-8261-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	087237e9-564b-46b8-8f1d-8de3406314b1	e0965003-39bc-46d9-83a7-7df655bdbf56	g.chr16:22260091C>T	ENST00000263026.5	+	4	837	c.363C>T	c.(361-363)acC>acT	p.T121T		NM_013302.3	NP_037434	O00418	EF2K_HUMAN	eukaryotic elongation factor-2 kinase	121	Alpha-type protein kinase. {ECO:0000255|PROSITE-ProRule:PRU00501}.				insulin receptor signaling pathway (GO:0008286)|protein autophosphorylation (GO:0046777)|regulation of protein autophosphorylation (GO:0031952)|translational elongation (GO:0006414)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|elongation factor-2 kinase activity (GO:0004686)|protein kinase activity (GO:0004672)|translation factor activity, nucleic acid binding (GO:0008135)			breast(1)|central_nervous_system(1)|endometrium(8)|large_intestine(2)|lung(13)|ovary(1)|prostate(1)|skin(2)	29				GBM - Glioblastoma multiforme(48;0.0223)		ACGCCGTCACCGGGGAATGGC	0.572																																					NSCLC(195;1411 2157 20319 27471 51856)	ENST00000263026.5																			0				breast(1)|central_nervous_system(1)|endometrium(8)|large_intestine(2)|lung(13)|ovary(1)|prostate(1)|skin(2)	29						c.(361-363)acC>acT		eukaryotic elongation factor-2 kinase							142	112	122					16																	22260091		2197	4300	6497	SO:0001819	synonymous_variant	29904				insulin receptor signaling pathway|translational elongation	cytosol	ATP binding|calcium ion binding|calmodulin binding|elongation factor-2 kinase activity|translation factor activity, nucleic acid binding	g.chr16:22260091C>T	U93850	CCDS10604.1	16p12	2008-02-05			ENSG00000103319	ENSG00000103319			24615	protein-coding gene	gene with protein product		606968				9144159, 12051769	Standard	NM_013302		Approved	eEF-2K	uc002dki.3	O00418	OTTHUMG00000094771	ENST00000263026.5:c.363C>T	16.37:g.22260091C>T							p.T121T	NM_013302.3	NP_037434.1	O00418	EF2K_HUMAN		GBM - Glioblastoma multiforme(48;0.0223)	4	837	+			121			Alpha-type protein kinase.		Q8N588	Silent	SNP	ENST00000263026.5	37	c.363C>T	CCDS10604.1																																																																																				0.572	EEF2K-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211580.2	NM_013302		10	89	0	0	0	1	0	10	89					T	22260091	C	T	22260091	2	4	234	1	0	0	0	0	0	0	0	1	4930	639	23	2		2	EEF2K	16	22260091	Silent	SNP	C	TCGA-HC-8261-01A-11D-2260-08	21429292	22260091	68094662	31	10895											
CHD9	80205	broad.mit.edu	37	chr16	53243397	53243397	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tatttttgtttctgtagcctCcatcttccaagaagagcgat	9	16	7	9	1	2	2	0	0	2	2	4	3	4	2	3	0	2	2	3	0	4	6			TCGA-HC-8261-01A-11D-2260-08	TCGA-HC-8261-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	087237e9-564b-46b8-8f1d-8de3406314b1	e0965003-39bc-46d9-83a7-7df655bdbf56	g.chr16:53243397C>A	ENST00000398510.3	+	2	1543	c.1456C>A	c.(1456-1458)Cca>Aca	p.P486T	CHD9_ENST00000447540.1_Missense_Mutation_p.P486T|CHD9_ENST00000564845.1_Missense_Mutation_p.P486T|CHD9_ENST00000566029.1_Missense_Mutation_p.P486T			Q3L8U1	CHD9_HUMAN	chromodomain helicase DNA binding protein 9	486					cellular lipid metabolic process (GO:0044255)|chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78		all_cancers(37;0.0212)				TCTGTAGCCTCCATCTTCCAA	0.348																																						ENST00000566029.1																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78						c.(1456-1458)Cca>Aca		chromodomain helicase DNA binding protein 9							34	30	32					16																	53243397		1805	4075	5880	SO:0001583	missense	80205				cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleoplasm	ATP binding|DNA binding|helicase activity|protein binding	g.chr16:53243397C>A	AK022240	CCDS45485.1	16q12.2	2006-04-12				ENSG00000177200			25701	protein-coding gene	gene with protein product						9205841	Standard	XM_005256168		Approved	FLJ12178, KIAA0308, BC022889	uc002egy.3	Q3L8U1		ENST00000398510.3:c.1456C>A	16.37:g.53243397C>A	ENSP00000381522:p.Pro486Thr					CHD9_ENST00000564845.1_Missense_Mutation_p.P486T|CHD9_ENST00000447540.1_Missense_Mutation_p.P486T|CHD9_ENST00000398510.3_Missense_Mutation_p.P486T	p.P486T			Q3L8U1	CHD9_HUMAN			3	1665	+		all_cancers(37;0.0212)	486					B2RTU2|B9ZVQ0|O15025|Q1WF12|Q6DTK9|Q9H9V7|Q9UHM2	Missense_Mutation	SNP	ENST00000398510.3	37	c.1456C>A		.	.	.	.	.	.	.	.	.	.	C	12.63	1.996276	0.35226	.	.	ENSG00000177200	ENST00000447540;ENST00000398510;ENST00000219084	T;T	0.53206	0.63;0.63	5.55	5.55	0.83447	.	0.000000	0.56097	D	0.000022	T	0.67306	0.2879	L	0.60455	1.87	0.47276	D	0.999375	D;P;D;D;D	0.89917	0.998;0.571;1.0;0.961;1.0	D;B;D;P;D	0.87578	0.981;0.301;0.994;0.691;0.998	T	0.66352	-0.5945	10	0.51188	T	0.08	-12.8183	19.5027	0.95103	0.0:1.0:0.0:0.0	.	12;486;486;486;486	B4DR07;Q3L8U1-3;Q3L8U1;Q8NAR9;Q3L8U1-2	.;.;CHD9_HUMAN;.;.	T	486;486;12	ENSP00000396345:P486T;ENSP00000381522:P486T	ENSP00000219084:P12T	P	+	1	0	CHD9	51800898	1.000000	0.71417	1.000000	0.80357	0.802000	0.45316	4.259000	0.58828	2.610000	0.88304	0.655000	0.94253	CCA		0.348	CHD9-020	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000422345.1	NM_025134		5	14	1	0	0.217242	1	0.217242	5	14					A	53243397	C	A	53243397	3	1	234	1	0	0	0	0	1	0	0	0	3332	855	30	5	1462	5	CHD9	16	53243397	Missense_Mutation	SNP	C	TCGA-HC-8261-01A-11D-2260-08	30983306	53243397	37111356	32	10896											
CDH3	1001	broad.mit.edu	37	chr16	68712160	68712160	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctgaaaatggcaagggtcccTtcccccagagactgaatcag	12	7	10	12	0	1	3	1	2	0	1	3	4	3	3	3	2	0	1	3	2	4	1			TCGA-HC-8261-01A-11D-2260-08	TCGA-HC-8261-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	087237e9-564b-46b8-8f1d-8de3406314b1	e0965003-39bc-46d9-83a7-7df655bdbf56	g.chr16:68712160T>C	ENST00000264012.4	+	4	914	c.370T>C	c.(370-372)Ttc>Ctc	p.F124L	CDH3_ENST00000581171.1_Missense_Mutation_p.F69L|CDH3_ENST00000429102.2_Missense_Mutation_p.F124L	NM_001793.4	NP_001784.2	P22223	CADH3_HUMAN	cadherin 3, type 1, P-cadherin (placental)	124	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|canonical Wnt signaling pathway (GO:0060070)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|hair cycle process (GO:0022405)|homophilic cell adhesion (GO:0007156)|keratinization (GO:0031424)|negative regulation of catagen (GO:0051796)|negative regulation of transforming growth factor beta2 production (GO:0032912)|positive regulation of gene expression (GO:0010628)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of keratinocyte proliferation (GO:0010838)|positive regulation of melanin biosynthetic process (GO:0048023)|positive regulation of melanosome transport (GO:1902910)|positive regulation of monophenol monooxygenase activity (GO:0032773)|regulation of hair cycle by canonical Wnt signaling pathway (GO:0060901)|response to drug (GO:0042493)|retina homeostasis (GO:0001895)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)|wound healing (GO:0042060)	cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.?(2)		NS(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(3)|skin(1)|urinary_tract(1)	25		Ovarian(137;0.0564)		OV - Ovarian serous cystadenocarcinoma(108;0.000782)|Epithelial(162;0.0054)|all cancers(182;0.0384)		CAAGGGTCCCTTCCCCCAGAG	0.507																																						ENST00000264012.4																			2	Unknown(2)	p.?(2)	breast(2)	NS(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(3)|skin(1)|urinary_tract(1)	25						c.(370-372)Ttc>Ctc		cadherin 3, type 1, P-cadherin (placental)							107	103	104					16																	68712160		2198	4300	6498	SO:0001583	missense	1001				adherens junction organization|cell junction assembly|homophilic cell adhesion|response to stimulus|visual perception	integral to membrane	calcium ion binding	g.chr16:68712160T>C	X63629	CCDS10868.1	16q22.1	2013-01-08	2001-12-04		ENSG00000062038	ENSG00000062038		"Cadherins / Major cadherins"	1762	protein-coding gene	gene with protein product		114021	"cadherin 3, P-cadherin (placental)"			1427864	Standard	NM_001793		Approved	CDHP, PCAD	uc002ewf.2	P22223	OTTHUMG00000137560	ENST00000264012.4:c.370T>C	16.37:g.68712160T>C	ENSP00000264012:p.Phe124Leu					CDH3_ENST00000581171.1_Missense_Mutation_p.F69L|CDH3_ENST00000429102.2_Missense_Mutation_p.F124L	p.F124L	NM_001793.4	NP_001784.2	P22223	CADH3_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.000782)|Epithelial(162;0.0054)|all cancers(182;0.0384)	4	914	+		Ovarian(137;0.0564)	124			Cadherin 1.		B2R6F4|Q05DI6	Missense_Mutation	SNP	ENST00000264012.4	37	c.370T>C	CCDS10868.1	.	.	.	.	.	.	.	.	.	.	T	31	5.069165	0.93950	.	.	ENSG00000062038	ENST00000429102;ENST00000264012;ENST00000542274	T;T	0.50548	0.74;0.74	5.82	5.82	0.92795	Cadherin (3);Cadherin-like (1);	0.179440	0.27088	N	0.020988	T	0.58680	0.2139	L	0.58925	1.835	0.51767	D	0.999931	P	0.46706	0.883	P	0.54924	0.764	T	0.56565	-0.7958	10	0.38643	T	0.18	.	14.1403	0.65316	0.0:0.0:0.0:1.0	.	124	P22223	CADH3_HUMAN	L	124;124;69	ENSP00000398485:F124L;ENSP00000264012:F124L	ENSP00000264012:F124L	F	+	1	0	CDH3	67269661	1.000000	0.71417	1.000000	0.80357	0.760000	0.43138	5.430000	0.66501	2.223000	0.72356	0.455000	0.32223	TTC		0.507	CDH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268896.2	NM_001793		34	96	0	0	0	1	0	34	96					C	68712160	T	C	68712160	3	2	234	1	0	0	0	0	1	0	0	0	3111	1609	56	4	384	4	CDH3	16	68712160	Missense_Mutation	SNP	T	TCGA-HC-8261-01A-11D-2260-08	15468763	68712160	21642593	33	10897											
NCOR1	9611	broad.mit.edu	37	chr17	15965015	15965015	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctctagctgctgctgttcacTaactgctgctgacctgcttc	5	14	8	14	0	2	1	1	1	1	0	3	1	2	1	1	0	7	7	1	0	2	4	rs543425229		TCGA-HC-8261-01A-11D-2260-08	TCGA-HC-8261-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	087237e9-564b-46b8-8f1d-8de3406314b1	e0965003-39bc-46d9-83a7-7df655bdbf56	g.chr17:15965015T>C	ENST00000268712.3	-	37	5838	c.5581A>G	c.(5581-5583)Agt>Ggt	p.S1861G	NCOR1_ENST00000395857.3_Missense_Mutation_p.S445G|NCOR1_ENST00000395851.1_Intron	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN	nuclear receptor corepressor 1	1861	Interaction with C1D. {ECO:0000250}.				CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation (GO:0002361)|cellular lipid metabolic process (GO:0044255)|cholesterol homeostasis (GO:0042632)|chromatin modification (GO:0016568)|circadian regulation of gene expression (GO:0032922)|definitive erythrocyte differentiation (GO:0060318)|gene expression (GO:0010467)|negative regulation of JNK cascade (GO:0046329)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of histone deacetylation (GO:0031065)|regulation of fatty acid transport (GO:2000191)|regulation of glycolytic process by negative regulation of transcription from RNA polymerase II promoter (GO:0072362)|regulation of lipid transport by negative regulation of transcription from RNA polymerase II promoter (GO:0072368)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|spindle assembly (GO:0051225)|thalamus development (GO:0021794)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|histone deacetylase binding (GO:0042826)|histone deacetylase regulator activity (GO:0035033)|nuclear hormone receptor binding (GO:0035257)|RNA polymerase II activating transcription factor binding (GO:0001102)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		TGCTGTTCACTAACTGCTGCT	0.483													T|||	1	0.000199681	0	0.0014	5008	,	,		21527	0		0	False		,,,				2504	0					ENST00000268712.3																			0				NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107						c.(5581-5583)Agt>Ggt		nuclear receptor corepressor 1							93	90	91					17																	15965015		2203	4300	6503	SO:0001583	missense	9611				cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter	nuclear chromatin|spindle microtubule|transcriptional repressor complex	histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding	g.chr17:15965015T>C	AF044209	CCDS11175.1, CCDS54094.1, CCDS54095.1	17p11.2	2014-06-12	2010-06-10		ENSG00000141027	ENSG00000141027			7672	protein-coding gene	gene with protein product	"thyroid hormone- and retinoic acid receptor-associated corepressor 1", "protein phosphatase 1, regulatory subunit 109"	600849	"nuclear receptor co-repressor 1"			7566114, 9724795	Standard	NM_006311		Approved	N-CoR, hCIT529I10, TRAC1, hN-CoR, KIAA1047, MGC104216, PPP1R109	uc002gpo.3	O75376	OTTHUMG00000059309	ENST00000268712.3:c.5581A>G	17.37:g.15965015T>C	ENSP00000268712:p.Ser1861Gly					NCOR1_ENST00000395857.3_Missense_Mutation_p.S445G|NCOR1_ENST00000395851.1_Intron	p.S1861G	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.101)	37	5838	-			1861			Interaction with C1D (By similarity).		B3DLF8|E9PGV6|Q86YY0|Q9UPV5|Q9UQ18	Missense_Mutation	SNP	ENST00000268712.3	37	c.5581A>G	CCDS11175.1	.	.	.	.	.	.	.	.	.	.	T	13.16	2.153613	0.38021	.	.	ENSG00000141027	ENST00000268712;ENST00000395849;ENST00000395857	T;T	0.48522	0.81;0.83	5.87	4.78	0.61160	.	0.317981	0.38272	N	0.001752	T	0.34658	0.0905	L	0.36672	1.1	0.27031	N	0.964247	B;B;B;P	0.39282	0.185;0.304;0.104;0.666	B;B;B;B	0.36289	0.155;0.105;0.039;0.221	T	0.33548	-0.9864	10	0.45353	T	0.12	-9.8537	8.8578	0.35238	0.0:0.1448:0.0:0.8552	.	671;1765;1861;381	B4DZ48;E7EVK1;O75376;Q86YY1	.;.;NCOR1_HUMAN;.	G	1861;1765;445	ENSP00000268712:S1861G;ENSP00000379198:S445G	ENSP00000268712:S1861G	S	-	1	0	NCOR1	15905740	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.805000	0.38883	2.247000	0.74100	0.528000	0.53228	AGT		0.483	NCOR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131751.5	NM_006311		43	97	0	0	0	1	0	43	97					C	15965015	T	C	15965015	3	2	234	1	0	0	0	0	1	0	0	0	10235	1522	53	4	1781	4	NCOR1	17	15965015	Missense_Mutation	SNP	T	TCGA-HC-8261-01A-11D-2260-08		15965015	65230195	34	10898											
CDK12	51755	broad.mit.edu	37	chr17	37650913	37650913	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atgaaggaaattgtcacagaTaaacaagatgcactggattt	17	10	9	5	0	1	3	1	1	0	2	1	5	1	5	0	2	2	1	0	2	5	3			TCGA-HC-8261-01A-11D-2260-08	TCGA-HC-8261-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	087237e9-564b-46b8-8f1d-8de3406314b1	e0965003-39bc-46d9-83a7-7df655bdbf56	g.chr17:37650913T>G	ENST00000447079.4	+	5	2418	c.2385T>G	c.(2383-2385)gaT>gaG	p.D795E	CDK12_ENST00000430627.2_Missense_Mutation_p.D795E	NM_015083.1|NM_016507.2	NP_055898.1|NP_057591.2	Q9NYV4	CDK12_HUMAN	cyclin-dependent kinase 12	795	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				mRNA processing (GO:0006397)|phosphorylation of RNA polymerase II C-terminal domain (GO:0070816)|protein autophosphorylation (GO:0046777)|regulation of MAP kinase activity (GO:0043405)|RNA splicing (GO:0008380)	cyclin K-CDK12 complex (GO:0002944)|nuclear cyclin-dependent protein kinase holoenzyme complex (GO:0019908)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cyclin binding (GO:0030332)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)			NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3)	70						ttgtcacagataaacaagatg	0.378			"Mis, N, F"		serous ovarian					TCGA Ovarian(9;0.13)																												ENST00000447079.4				Rec	yes		17	17q12	51755	"Mis, N, F"	cyclin-dependent kinase 12			E			serous ovarian		0				NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3)	70						c.(2383-2385)gaT>gaG		cyclin-dependent kinase 12							54	47	49					17																	37650913		2203	4300	6503	SO:0001583	missense	51755				mRNA processing|phosphorylation of RNA polymerase II C-terminal domain|protein autophosphorylation|regulation of MAP kinase activity|RNA splicing	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck|nucleolus	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity	g.chr17:37650913T>G	AF227198	CCDS11337.1, CCDS45666.1	17q12	2011-10-25	2009-12-16	2009-12-16	ENSG00000167258	ENSG00000167258		"Cyclin-dependent kinases"	24224	protein-coding gene	gene with protein product	"CDC2 related protein kinase 7"	615514	"Cdc2-related kinase, arginine/serine-rich"	CRKRS		10048485, 11683387, 19884882	Standard	XM_005257456		Approved	CRK7, CRKR, KIAA0904	uc010cvv.3	Q9NYV4	OTTHUMG00000133214	ENST00000447079.4:c.2385T>G	17.37:g.37650913T>G	ENSP00000398880:p.Asp795Glu	TCGA Ovarian(9;0.13)				CDK12_ENST00000430627.2_Missense_Mutation_p.D795E	p.D795E	NM_015083.1|NM_016507.2	NP_055898.1|NP_057591.2	Q9NYV4	CDK12_HUMAN			5	2418	+			795			Protein kinase.		A7E2B2|B4DYX4|B9EIQ6|O94978	Missense_Mutation	SNP	ENST00000447079.4	37	c.2385T>G	CCDS11337.1	.	.	.	.	.	.	.	.	.	.	T	16.39	3.110623	0.56398	.	.	ENSG00000167258	ENST00000430627;ENST00000447079	T;T	0.64803	-0.12;-0.12	4.69	2.45	0.29901	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.125338	0.36167	N	0.002758	T	0.58977	0.2160	N	0.12471	0.22	0.45648	D	0.998575	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.85130	0.997;0.997;0.994	T	0.60616	-0.7228	10	0.62326	D	0.03	-10.2106	8.0753	0.30712	0.0:0.2404:0.0:0.7596	.	794;795;795	E7EUM9;Q9NYV4;Q9NYV4-2	.;CDK12_HUMAN;.	E	795	ENSP00000407720:D795E;ENSP00000398880:D795E	ENSP00000407720:D795E	D	+	3	2	CDK12	34904439	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.058000	0.41374	0.749000	0.32854	0.459000	0.35465	GAT		0.378	CDK12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256941.4	NM_016507		5	2	0	0	0	1	0	5	2					G	37650913	T	G	37650913	3	3	234	1	0	0	0	0	1	0	0	0	3128	1403	49	5	2403	5	CDK12	17	37650913	Missense_Mutation	SNP	T	TCGA-HC-8261-01A-11D-2260-08	21685898	37650913	43544297	35	10899											
DBF4B	80174	broad.mit.edu	37	chr17	42807322	42807322	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aagttacatcgtgtccagccGcagagaagtaaaggcagaga	15	6	12	8	2	0	2	0	0	0	2	2	4	1	2	2	1	2	4	2	1	5	2	rs140298749	byFrequency	TCGA-HC-8261-01A-11D-2260-08	TCGA-HC-8261-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	087237e9-564b-46b8-8f1d-8de3406314b1	e0965003-39bc-46d9-83a7-7df655bdbf56	g.chr17:42807322G>A	ENST00000315005.3	+	4	413	c.275G>A	c.(274-276)cGc>cAc	p.R92H	DBF4B_ENST00000398338.3_Missense_Mutation_p.R92H|DBF4B_ENST00000393547.2_Missense_Mutation_p.R92H|DBF4B_ENST00000526915.1_3'UTR	NM_145663.2	NP_663696.1	Q8NFT6	DBF4B_HUMAN	DBF4 zinc finger B	92	BRCT.				cell cycle (GO:0007049)|positive regulation of cell proliferation (GO:0008284)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of protein kinase activity (GO:0045860)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|protein kinase activator activity (GO:0030295)|protein kinase binding (GO:0019901)|zinc ion binding (GO:0008270)			kidney(1)|large_intestine(1)|lung(5)	7		Prostate(33;0.0322)				GTGTCCAGCCGCAGAGAAGTA	0.488																																						ENST00000315005.3																			0				kidney(1)|large_intestine(1)|lung(5)	7						c.(274-276)cGc>cAc		DBF4 homolog B (S. cerevisiae)							99	92	94					17																	42807322		2203	4300	6503	SO:0001583	missense	80174				cell cycle	nucleus	nucleic acid binding|zinc ion binding	g.chr17:42807322G>A	AF465820	CCDS11485.1, CCDS45706.1, CCDS45706.2	17q21.31	2014-02-17	2014-02-17		ENSG00000161692	ENSG00000161692		"Zinc fingers, DBF-type"	17883	protein-coding gene	gene with protein product	"chiffon homolog B (Drosophila)", "zinc finger, DBF-type containing 1B"	611661	"DBF4 homolog B (S. cerevisiae)"			15668232	Standard	NM_145663		Approved	FLJ13087, DRF1, ASKL1, chifb, ZDBF1B	uc002ihf.3	Q8NFT6	OTTHUMG00000165717	ENST00000315005.3:c.275G>A	17.37:g.42807322G>A	ENSP00000323663:p.Arg92His					DBF4B_ENST00000398338.3_Missense_Mutation_p.R92H|DBF4B_ENST00000393547.2_Missense_Mutation_p.R92H|DBF4B_ENST00000526915.1_3'UTR	p.R92H	NM_145663.2	NP_663696.1	Q8NFT6	DBF4B_HUMAN			4	413	+		Prostate(33;0.0322)	92			BRCT.		D3DX56|Q8TEX0|Q96B19|Q9H912	Missense_Mutation	SNP	ENST00000315005.3	37	c.275G>A	CCDS11485.1	.	.	.	.	.	.	.	.	.	.	G	19.11	3.764857	0.69878	.	.	ENSG00000161692	ENST00000393547;ENST00000439818;ENST00000398338;ENST00000315005	T;T;T	0.79653	2.75;-1.29;2.75	4.4	3.43	0.39272	.	0.213738	0.32231	N	0.006396	D	0.84960	0.5588	L	0.61218	1.895	0.26545	N	0.974014	D;D;D;D	0.89917	1.0;0.999;0.998;0.999	D;D;P;D	0.65874	0.909;0.912;0.866;0.939	T	0.76358	-0.2988	10	0.72032	D	0.01	-15.6302	8.0962	0.30829	0.1101:0.0:0.8899:0.0	.	92;76;92;92	Q8NFT6-2;B4DHW6;Q8NFT6;Q8NFT6-4	.;.;DBF4B_HUMAN;.	H	92	ENSP00000377178:R92H;ENSP00000381381:R92H;ENSP00000323663:R92H	ENSP00000323663:R92H	R	+	2	0	DBF4B	40162848	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	2.197000	0.42696	1.067000	0.40740	0.561000	0.74099	CGC		0.488	DBF4B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000385930.1	NM_025104		3	77	0	0	0	1	0	3	77					A	42807322	G	A	42807322	3	1	234	1	0	0	0	0	1	0	0	0	4249	1087	38	1	289	1	DBF4B	17	42807322	Missense_Mutation	SNP	G	TCGA-HC-8261-01A-11D-2260-08	5156409	42807322	38387888	36	10900											
SPOP	8405	broad.mit.edu	37	chr17	47696424	47696424	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tctctacggatgaatttcttGaatccccagtctttgccttg	7	16	7	11	1	3	2	0	2	3	0	5	3	4	3	3	1	2	0	3	1	3	5	rs193921065		TCGA-HC-8261-01A-11D-2260-08	TCGA-HC-8261-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	087237e9-564b-46b8-8f1d-8de3406314b1	e0965003-39bc-46d9-83a7-7df655bdbf56	g.chr17:47696424G>C	ENST00000393328.2	-	6	764	c.399C>G	c.(397-399)ttC>ttG	p.F133L	SPOP_ENST00000503676.1_Missense_Mutation_p.F133L|SPOP_ENST00000504102.1_Missense_Mutation_p.F133L|SPOP_ENST00000393331.3_Missense_Mutation_p.F133L|SPOP_ENST00000513080.1_5'Flank|SPOP_ENST00000347630.2_Missense_Mutation_p.F133L	NM_003563.3	NP_003554.1	O43791	SPOP_HUMAN	speckle-type POZ protein	133	Important for binding substrate proteins.|MATH. {ECO:0000255|PROSITE- ProRule:PRU00129}.|Required for nuclear localization.				glucose homeostasis (GO:0042593)|positive regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902237)|positive regulation of type B pancreatic cell apoptotic process (GO:2000676)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	Cul3-RING ubiquitin ligase complex (GO:0031463)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	ubiquitin protein ligase binding (GO:0031625)	p.F133L(7)		endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						TGAATTTCTTGAATCCCCAGT	0.448										Prostate(2;0.17)																												ENST00000393331.3																			7	Substitution - Missense(7)	p.F133L(7)	prostate(7)	endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						c.(397-399)ttC>ttG		speckle-type POZ protein							118	120	119					17																	47696424		2203	4300	6503	SO:0001583	missense	8405				mRNA processing	nucleus	protein binding	g.chr17:47696424G>C	AJ000644	CCDS11551.1	17q21.33	2013-01-09			ENSG00000121067	ENSG00000121067		"BTB/POZ domain containing"	11254	protein-coding gene	gene with protein product		602650				9414087	Standard	NM_001007227		Approved	TEF2, BTBD32	uc002ipg.3	O43791	OTTHUMG00000161496	ENST00000393328.2:c.399C>G	17.37:g.47696424G>C	ENSP00000377001:p.Phe133Leu	Prostate(2;0.17)				SPOP_ENST00000393328.2_Missense_Mutation_p.F133L|SPOP_ENST00000504102.1_Missense_Mutation_p.F133L|SPOP_ENST00000503676.1_Missense_Mutation_p.F133L|SPOP_ENST00000347630.2_Missense_Mutation_p.F133L	p.F133L	NM_001007226.1|NM_001007227.1	NP_001007227.1|NP_001007228.1	O43791	SPOP_HUMAN			7	869	-			133			MATH.|Required for nuclear localization.		B2R6S3|D3DTW7|Q53HJ1	Missense_Mutation	SNP	ENST00000393328.2	37	c.399C>G	CCDS11551.1	.	.	.	.	.	.	.	.	.	.	G	19.95	3.921613	0.73213	.	.	ENSG00000121067	ENST00000393328;ENST00000393331;ENST00000347630;ENST00000504102;ENST00000503536;ENST00000503676;ENST00000513872;ENST00000509079;ENST00000505581;ENST00000507970;ENST00000514121	T;T;T;T;T;T;T;T;T	0.41758	0.99;0.99;0.99;0.99;0.99;0.99;0.99;0.99;0.99	5.41	4.33	0.51752	TRAF-type (1);TRAF-like (1);MATH (3);	0.000000	0.85682	D	0.000000	T	0.58722	0.2142	M	0.80847	2.515	0.80722	D	1	P	0.52692	0.955	P	0.55087	0.768	T	0.62732	-0.6792	10	0.44086	T	0.13	-9.6576	13.4952	0.61421	0.0813:0.0:0.9187:0.0	.	133	O43791	SPOP_HUMAN	L	133;133;133;133;17;133;86;133;133;133;133	ENSP00000377001:F133L;ENSP00000377004:F133L;ENSP00000240327:F133L;ENSP00000425905:F133L;ENSP00000420908:F133L;ENSP00000426986:F133L;ENSP00000420960:F133L;ENSP00000426262:F133L;ENSP00000424119:F133L	ENSP00000240327:F133L	F	-	3	2	SPOP	45051423	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.591000	0.36665	1.345000	0.45676	0.563000	0.77884	TTC		0.448	SPOP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365154.2	NM_003563		54	91	0	0	0	1	0	54	91					C	47696424	G	C	47696424	3	2	234	1	0	0	0	0	1	0	0	0	15083	1281	45	5	749	5	SPOP	17	47696424	Missense_Mutation	SNP	G	TCGA-HC-8261-01A-11D-2260-08	4889102	47696424	33498786	37	10901											
CANT1	124583	broad.mit.edu	37	chr17	76993313	76993313	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctgacagggtcaggtagcccTttttcaggtaactgaaccag	10	10	11	10	0	2	2	2	2	0	0	2	2	2	2	2	3	3	2	2	3	3	4			TCGA-HC-8261-01A-11D-2260-08	TCGA-HC-8261-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	087237e9-564b-46b8-8f1d-8de3406314b1	e0965003-39bc-46d9-83a7-7df655bdbf56	g.chr17:76993313T>C	ENST00000302345.2	-	2	886	c.392A>G	c.(391-393)aAg>aGg	p.K131R	CANT1_ENST00000392446.5_Missense_Mutation_p.K131R|CANT1_ENST00000591732.1_5'Flank|CANT1_ENST00000591773.1_Missense_Mutation_p.K131R	NM_001159773.1|NM_138793.3	NP_001153245.1|NP_620148.1	Q8WVQ1	CANT1_HUMAN	calcium activated nucleotidase 1	131					positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|proteoglycan biosynthetic process (GO:0030166)|signal transduction (GO:0007165)	endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|signal transducer activity (GO:0004871)|uridine-diphosphatase activity (GO:0045134)		CANT1/ETV4(3)	cervix(1)|endometrium(1)|large_intestine(2)|lung(10)|prostate(1)|skin(1)	16			BRCA - Breast invasive adenocarcinoma(99;0.0362)|OV - Ovarian serous cystadenocarcinoma(97;0.139)			CAGGTAGCCCTTTTTCAGGTA	0.577			T	ETV4	prostate																																	ENST00000302345.2				Dom	yes		17	17q25	124583	T	calcium activated nucleotidase 1			E	ETV4		prostate	CANT1/ETV4(3)	0				cervix(1)|endometrium(1)|large_intestine(2)|lung(10)|prostate(1)|skin(1)	16						c.(391-393)aAg>aGg		calcium activated nucleotidase 1							184	181	182					17																	76993313		2203	4300	6503	SO:0001583	missense	124583				positive regulation of I-kappaB kinase/NF-kappaB cascade	endoplasmic reticulum membrane|Golgi cisterna membrane|integral to membrane	calcium ion binding|nucleoside-diphosphatase activity|signal transducer activity	g.chr17:76993313T>C	AJ312208	CCDS11760.1	17q25.3	2008-02-05	2004-10-12	2004-10-15		ENSG00000171302			19721	protein-coding gene	gene with protein product	"Soluble Ca-Activated Nucleotidase, isozyme 1"	613165				12167635	Standard	NM_138793		Approved	SHAPY, SCAN-1	uc002jwk.3	Q8WVQ1		ENST00000302345.2:c.392A>G	17.37:g.76993313T>C	ENSP00000307674:p.Lys131Arg					CANT1_ENST00000392446.5_Missense_Mutation_p.K131R|CANT1_ENST00000591773.1_Missense_Mutation_p.K131R	p.K131R	NM_001159773.1|NM_138793.3	NP_001153245.1|NP_620148.1	Q8WVQ1	CANT1_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0362)|OV - Ovarian serous cystadenocarcinoma(97;0.139)		2	886	-			131					B4DJ54|Q7Z2J7|Q8NG05|Q8NHP0|Q9BSD5	Missense_Mutation	SNP	ENST00000302345.2	37	c.392A>G	CCDS11760.1	.	.	.	.	.	.	.	.	.	.	T	10.97	1.501139	0.26861	.	.	ENSG00000171302	ENST00000302345;ENST00000392446;ENST00000537282;ENST00000339300	D;D	0.85773	-2.03;-2.03	5.27	4.19	0.49359	.	0.099573	0.64402	D	0.000002	T	0.71065	0.3296	N	0.20357	0.565	0.50632	D	0.999887	B	0.06786	0.001	B	0.10450	0.005	T	0.59440	-0.7454	10	0.13108	T	0.6	-30.8089	8.2417	0.31665	0.0:0.1541:0.0:0.8459	.	131	Q8WVQ1	CANT1_HUMAN	R	131;131;131;80	ENSP00000307674:K131R;ENSP00000376241:K131R	ENSP00000307674:K131R	K	-	2	0	CANT1	74504908	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	1.832000	0.39151	0.845000	0.35118	0.459000	0.35465	AAG		0.577	CANT1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437723.2	NM_138793		4	370	0	0	0	1	0	4	370					C	76993313	T	C	76993313	3	2	234	1	0	0	0	0	1	0	0	0	2617	1609	56	4	825	4	CANT1	17	76993313	Missense_Mutation	SNP	T	TCGA-HC-8261-01A-11D-2260-08	29296889	76993313	4201897	38	10902											
KLK7	5650	broad.mit.edu	37	chr19	51480876	51480876	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cctgggtcattgggttggccGcaagggaaagttccccagga	8	8	15	10	1	1	0	1	0	0	0	2	2	2	2	4	5	0	3	4	5	2	3	rs17855561		TCGA-HC-8261-01A-11D-2260-08	TCGA-HC-8261-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	087237e9-564b-46b8-8f1d-8de3406314b1	e0965003-39bc-46d9-83a7-7df655bdbf56	g.chr19:51480876G>A	ENST00000391807.1	-	6	779	c.678C>T	c.(676-678)tgC>tgT	p.C226C	KLK7_ENST00000595820.1_Silent_p.C226C|KLK7_ENST00000597707.1_Silent_p.C154C|KLK7_ENST00000336317.4_Silent_p.C113C|CTB-147C22.9_ENST00000594512.1_RNA	NM_139277.2	NP_644806.1	P49862	KLK7_HUMAN	kallikrein-related peptidase 7	226	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.			C -> W (in Ref. 9; AAH32005). {ECO:0000305}.	epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	epidermal lamellar body (GO:0097209)|extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)	p.C226C(1)		NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(11)|ovary(2)	19		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00382)|GBM - Glioblastoma multiforme(134;0.00895)		TGGGTTGGCCGCAAGGGAAAG	0.517																																						ENST00000391807.1																			1	Substitution - coding silent(1)	p.C226C(1)	lung(1)	NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(11)|ovary(2)	19						c.(676-678)tgC>tgT		kallikrein-related peptidase 7							150	129	136					19																	51480876		2203	4300	6503	SO:0001819	synonymous_variant	5650				epidermis development|proteolysis	extracellular region	serine-type endopeptidase activity	g.chr19:51480876G>A	L33404	CCDS12812.1, CCDS59414.1	19q13.33	2011-09-07	2006-10-27			ENSG00000169035		"Kallikreins", "Serine peptidases / Serine peptidases"	6368	protein-coding gene	gene with protein product		604438	"kallikrein 7 (chymotryptic, stratum corneum)"	PRSS6		8034709, 16800724, 16800723	Standard	NM_005046		Approved	SCCE	uc021uyj.1	P49862		ENST00000391807.1:c.678C>T	19.37:g.51480876G>A						KLK7_ENST00000595820.1_Silent_p.C226C|KLK7_ENST00000336317.4_Silent_p.C113C|KLK7_ENST00000597707.1_Silent_p.C154C|CTB-147C22.9_ENST00000594512.1_RNA	p.C226C	NM_139277.2	NP_644806.1	P49862	KLK7_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00382)|GBM - Glioblastoma multiforme(134;0.00895)	6	779	-		all_neural(266;0.026)	226	C -> W (in Ref. 6; AAH32005).		Peptidase S1.		A8K0U5|Q8N5N9|Q8NFV7	Silent	SNP	ENST00000391807.1	37	c.678C>T	CCDS12812.1																																																																																				0.517	KLK7-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464344.1	NM_005046		3	58	0	0	0	1	0	3	58					A	51480876	G	A	51480876	2	1	234	1	0	0	0	0	0	0	0	1	8409	1079	38	1		1	KLK7	19	51480876	Silent	SNP	G	TCGA-HC-8261-01A-11D-2260-08		51480876	7648107	39	10903											
ZNF468	90333	broad.mit.edu	37	chr19	53344590	53344590	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	ggtttctctccagtatgaatCctcttatgtctttcaaggtg	7	17	8	9	0	4	1	1	1	3	0	7	1	6	1	2	2	0	2	2	2	4	4			TCGA-HC-8261-01A-11D-2260-08	TCGA-HC-8261-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	087237e9-564b-46b8-8f1d-8de3406314b1	e0965003-39bc-46d9-83a7-7df655bdbf56	g.chr19:53344590C>G	ENST00000595646.1	-	4	1077	c.957G>C	c.(955-957)agG>agC	p.R319S	ZNF28_ENST00000594602.1_Intron|ZNF468_ENST00000390651.4_Missense_Mutation_p.R266S|ZNF468_ENST00000396409.4_Missense_Mutation_p.R266S|ZNF468_ENST00000243639.4_3'UTR			Q5VIY5	ZN468_HUMAN	zinc finger protein 468	319					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(1)|stomach(3)|urinary_tract(1)	23				GBM - Glioblastoma multiforme(134;0.0358)		CAGTATGAATCCTCTTATGTC	0.373																																						ENST00000595646.1																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(1)|stomach(3)|urinary_tract(1)	23						c.(955-957)agG>agC		zinc finger protein 468							123	127	126					19																	53344590		2203	4300	6503	SO:0001583	missense	90333				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53344590C>G	AK023558	CCDS33094.1, CCDS62781.1	19q13.41	2013-01-08				ENSG00000204604		"Zinc fingers, C2H2-type", "-"	33105	protein-coding gene	gene with protein product						16144304	Standard	NM_001277120		Approved		uc002qaf.3	Q5VIY5		ENST00000595646.1:c.957G>C	19.37:g.53344590C>G	ENSP00000470381:p.Arg319Ser					ZNF28_ENST00000594602.1_Intron|ZNF468_ENST00000243639.4_3'UTR|ZNF468_ENST00000396409.4_Missense_Mutation_p.R266S|ZNF468_ENST00000390651.4_Missense_Mutation_p.R266S	p.R319S			Q5VIY5	ZN468_HUMAN		GBM - Glioblastoma multiforme(134;0.0358)	4	1077	-			319					A8MV20|Q5CZB8|Q5VIY4|Q68DI7	Missense_Mutation	SNP	ENST00000595646.1	37	c.957G>C	CCDS33094.1	.	.	.	.	.	.	.	.	.	.	-	4.654	0.121666	0.08931	.	.	ENSG00000204604	ENST00000243639;ENST00000396409;ENST00000390651;ENST00000393865	T;T	0.24151	1.87;1.87	1.99	-1.45	0.08828	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.17577	0.0422	M	0.65975	2.015	0.21604	N	0.999624	P	0.37781	0.608	B	0.27262	0.078	T	0.19778	-1.0295	9	0.59425	D	0.04	.	0.5984	0.00740	0.1998:0.1392:0.2033:0.4577	.	319	Q5VIY5	ZN468_HUMAN	S	319;266;266;69	ENSP00000379690:R266S;ENSP00000445669:R266S	ENSP00000243639:R319S	R	-	3	2	ZNF468	58036402	0.000000	0.05858	0.144000	0.22314	0.020000	0.10135	-3.096000	0.00606	-0.474000	0.06862	-0.724000	0.03597	AGG		0.373	ZNF468-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463098.1	NM_001008801		52	28	0	0	0	1	0	52	28					G	53344590	C	G	53344590	3	3	234	1	0	0	0	0	1	0	0	0	17925	854	30	5	615	5	ZNF468	19	53344590	Missense_Mutation	SNP	C	TCGA-HC-8261-01A-11D-2260-08	1863714	53344590	5784393	40	10904											
ZMYND8	23613	broad.mit.edu	37	chr20	45867855	45867855	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggggagaatggctgcccaccGtcgtggatggtggagtttta	7	10	17	7	2	0	1	0	0	0	1	1	4	0	3	2	6	1	2	2	6	2	2			TCGA-HC-8261-01A-11D-2260-08	TCGA-HC-8261-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	087237e9-564b-46b8-8f1d-8de3406314b1	e0965003-39bc-46d9-83a7-7df655bdbf56	g.chr20:45867855G>A	ENST00000311275.7	-	15	2505	c.2252C>T	c.(2251-2253)aCg>aTg	p.T751M	ZMYND8_ENST00000471951.2_Missense_Mutation_p.T771M|ZMYND8_ENST00000446994.2_Missense_Mutation_p.T688M|ZMYND8_ENST00000372023.3_Missense_Mutation_p.T746M|ZMYND8_ENST00000360911.3_Missense_Mutation_p.T746M|ZMYND8_ENST00000355972.4_Missense_Mutation_p.T751M|ZMYND8_ENST00000468376.2_5'UTR|ZMYND8_ENST00000461685.1_Missense_Mutation_p.T771M|ZMYND8_ENST00000262975.4_Missense_Mutation_p.T751M|ZMYND8_ENST00000540497.1_Missense_Mutation_p.T699M|ZMYND8_ENST00000396281.4_Missense_Mutation_p.T751M|ZMYND8_ENST00000536340.1_Missense_Mutation_p.T778M|ZMYND8_ENST00000458360.2_Intron|ZMYND8_ENST00000352431.2_Missense_Mutation_p.T771M	NM_001281772.1|NM_001281778.1|NM_001281783.1	NP_001268701.1|NP_001268707.1|NP_001268712.1	Q9ULU4	PKCB1_HUMAN	zinc finger, MYND-type containing 8	751					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	nucleus (GO:0005634)	repressing transcription factor binding (GO:0070491)|RNA polymerase II transcription corepressor activity (GO:0001106)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|prostate(3)|skin(2)|urinary_tract(8)	62			Epithelial(1;0.0289)|all cancers(1;0.0962)|OV - Ovarian serous cystadenocarcinoma(1;0.154)			GCTGCCCACCGTCGTGGATGG	0.572																																						ENST00000311275.7																			0				NS(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|prostate(3)|skin(2)|urinary_tract(8)	62						c.(2251-2253)aCg>aTg		zinc finger, MYND-type containing 8							57	72	67					20																	45867855		2203	4300	6503	SO:0001583	missense	23613						protein binding|zinc ion binding	g.chr20:45867855G>A	U48251	CCDS13404.1, CCDS13405.1, CCDS46613.1, CCDS63300.1, CCDS63301.1, CCDS63304.1, CCDS63306.1, CCDS74738.1	20q13.12	2013-01-28	2007-01-29	2007-01-29	ENSG00000101040	ENSG00000101040		"Zinc fingers, MYND-type", "Zinc fingers, PHD-type"	9397	protein-coding gene	gene with protein product		615713	"protein kinase C binding protein 1"	PRKCBP1			Standard	NM_001281769		Approved	RACK7	uc002xtb.1	Q9ULU4	OTTHUMG00000032667	ENST00000311275.7:c.2252C>T	20.37:g.45867855G>A	ENSP00000312237:p.Thr751Met					ZMYND8_ENST00000396281.4_Missense_Mutation_p.T751M|ZMYND8_ENST00000461685.1_Missense_Mutation_p.T771M|ZMYND8_ENST00000355972.4_Missense_Mutation_p.T751M|ZMYND8_ENST00000360911.3_Missense_Mutation_p.T746M|ZMYND8_ENST00000262975.4_Missense_Mutation_p.T751M|ZMYND8_ENST00000372023.3_Missense_Mutation_p.T746M|ZMYND8_ENST00000540497.1_Missense_Mutation_p.T699M|ZMYND8_ENST00000536340.1_Missense_Mutation_p.T778M|ZMYND8_ENST00000446994.2_Missense_Mutation_p.T688M|ZMYND8_ENST00000471951.2_Missense_Mutation_p.T771M|ZMYND8_ENST00000458360.2_Intron|ZMYND8_ENST00000352431.2_Missense_Mutation_p.T771M|ZMYND8_ENST00000468376.2_5'UTR	p.T751M			Q9ULU4	PKCB1_HUMAN	Epithelial(1;0.0289)|all cancers(1;0.0962)|OV - Ovarian serous cystadenocarcinoma(1;0.154)		15	2505	-			751					B3KVL2|B7Z2A8|B7Z3E0|B7Z680|B7ZM62|E1P5U5|F5H0X3|H7C0U2|J3KPU3|Q13517|Q2HXV1|Q2HXV2|Q2HXV3|Q2HXV4|Q2HXV7|Q2HXV8|Q2HXV9|Q2HXW0|Q2HXW1|Q2HXW2|Q4JJ94|Q4JJ95|Q5TH09|Q5TH11|Q6MZM1|Q8WXC5|Q9H1F3|Q9H1F4|Q9H1F5|Q9H1L8|Q9H1L9|Q9H2G5|Q9NYN3|Q9UIX6	Missense_Mutation	SNP	ENST00000311275.7	37	c.2252C>T		.	.	.	.	.	.	.	.	.	.	G	10.96	1.499021	0.26861	.	.	ENSG00000101040	ENST00000360911;ENST00000311275;ENST00000262975;ENST00000471951;ENST00000352431;ENST00000396281;ENST00000536340;ENST00000355972;ENST00000446994;ENST00000461685;ENST00000372023;ENST00000540497	T;T;T;T;T;T;T;T;T;T	0.50001	0.76;0.76;0.76;0.76;0.76;0.76;0.76;0.76;0.76;0.76	5.26	4.29	0.51040	.	0.827732	0.11205	N	0.588324	T	0.44117	0.1278	L	0.29908	0.895	0.09310	N	1	P;P;P;P;P;P;P;P;P;P;P;P;P;P;P;P	0.50819	0.853;0.771;0.664;0.783;0.939;0.853;0.853;0.862;0.853;0.853;0.625;0.771;0.771;0.771;0.916;0.771	P;B;B;B;B;B;P;B;P;P;B;B;B;B;B;B	0.49597	0.616;0.411;0.247;0.136;0.416;0.309;0.489;0.429;0.548;0.616;0.238;0.411;0.411;0.346;0.247;0.411	T	0.19128	-1.0315	10	0.39692	T	0.17	-10.214	9.9741	0.41772	0.0:0.2095:0.674:0.1165	.	778;746;746;726;745;771;751;746;771;771;751;688;746;699;699;751	F5H0X3;Q2HXV7;Q2HXV3;Q5TH11;Q5JV90;Q9ULU4-7;Q9ULU4-9;Q9ULU4-14;Q9ULU4-12;Q9ULU4-13;Q9ULU4;B3KVL2;Q2HXV9;Q2HXV1;Q2HXV4;B7Z2A8	.;.;.;.;.;.;.;.;.;.;PKCB1_HUMAN;.;.;.;.;.	M	746;751;752;772;771;751;778;751;688;771;746;699	ENSP00000354166:T746M;ENSP00000312237:T751M;ENSP00000335537:T771M;ENSP00000379577:T751M;ENSP00000439800:T778M;ENSP00000348246:T751M;ENSP00000396725:T688M;ENSP00000418210:T771M;ENSP00000361093:T746M;ENSP00000443086:T699M	ENSP00000262975:T752M	T	-	2	0	ZMYND8	45301262	0.068000	0.21057	0.064000	0.19789	0.159000	0.22180	2.515000	0.45512	2.440000	0.82611	0.591000	0.81541	ACG		0.572	ZMYND8-007	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000079596.2	NM_183047		5	170	0	0	0	1	0	5	170					A	45867855	G	A	45867855	3	1	234	1	0	0	0	0	1	0	0	0	17708	1145	40	1	1290	1	ZMYND8	20	45867855	Missense_Mutation	SNP	G	TCGA-HC-8261-01A-11D-2260-08		45867855	17157665	41	10905											
KRTAP10-1	386677	broad.mit.edu	37	chr21	45959524	45959524	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggaggtgcagcaagctggAtggcagctagactgctggca	10	6	17	8	0	0	1	0	0	0	1	0	4	0	3	0	5	5	7	0	5	2	1			TCGA-HC-8261-01A-11D-2260-08	TCGA-HC-8261-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	087237e9-564b-46b8-8f1d-8de3406314b1	e0965003-39bc-46d9-83a7-7df655bdbf56	g.chr21:45959524A>C	ENST00000400375.1	-	1	554	c.510T>G	c.(508-510)caT>caG	p.H170Q	TSPEAR_ENST00000323084.4_Intron|TSPEAR_ENST00000397916.1_Intron	NM_198691.2	NP_941964.2	P60331	KR101_HUMAN	keratin associated protein 10-1	170	24 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)				breast(1)|central_nervous_system(1)|endometrium(1)|lung(3)|prostate(4)|skin(1)	11						AGCAAGCTGGATGGCAGCTAG	0.622																																						ENST00000400375.1																			0				breast(1)|central_nervous_system(1)|endometrium(1)|lung(3)|prostate(4)|skin(1)	11						c.(508-510)caT>caG		keratin associated protein 10-1							124	127	126					21																	45959524		2203	4300	6503	SO:0001583	missense	386677					keratin filament		g.chr21:45959524A>C	AJ566380	CCDS42954.1	21q22.3	2007-10-05			ENSG00000215455	ENSG00000215455		"Keratin associated proteins"	22966	protein-coding gene	gene with protein product				KRTAP18-1			Standard	NM_198691		Approved	KAP10.1, KAP18.1	uc002zfh.1	P60331	OTTHUMG00000057627	ENST00000400375.1:c.510T>G	21.37:g.45959524A>C	ENSP00000383226:p.His170Gln					TSPEAR_ENST00000397916.1_Intron|TSPEAR_ENST00000323084.4_Intron	p.H170Q	NM_198691.2	NP_941964.2	P60331	KR101_HUMAN			1	554	-			170			24 X 5 AA repeats of C-C-X(3).		Q0VAR0|Q0VAR1	Missense_Mutation	SNP	ENST00000400375.1	37	c.510T>G	CCDS42954.1	.	.	.	.	.	.	.	.	.	.	a	0.642	-0.813085	0.02798	.	.	ENSG00000215455	ENST00000400375;ENST00000545982	T	0.01133	5.29	2.31	1.42	0.22433	.	.	.	.	.	T	0.00178	0.0005	N	0.00001	-3.82	0.20563	N	0.999887	B	0.02656	0.0	B	0.01281	0.0	T	0.44862	-0.9300	9	0.02654	T	1	.	7.8006	0.29172	0.2848:0.7152:0.0:0.0	.	170	P60331	KR101_HUMAN	Q	170	ENSP00000383226:H170Q	ENSP00000383226:H170Q	H	-	3	2	KRTAP10-1	44783952	0.000000	0.05858	0.819000	0.32651	0.108000	0.19459	-0.825000	0.04433	0.098000	0.17522	-1.452000	0.01034	CAT		0.622	KRTAP10-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128030.1			6	289	0	0	0	1	0	6	289					C	45959524	A	C	45959524	3	2	234	1	0	0	0	0	1	0	0	0	8505	330	12	5	342	5	KRTAP10-1	21	45959524	Missense_Mutation	SNP	A	TCGA-HC-8261-01A-11D-2260-08		45959524	2170371	42	10906											
ARHGEF9	23229	broad.mit.edu	37	chrX	62857909	62857909	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atctgcctccctgtaggtatCattttttgaagggggttaac	8	15	10	8	0	2	1	1	1	1	0	3	1	3	1	2	3	2	3	2	3	4	6			TCGA-HC-8261-01A-11D-2260-08	TCGA-HC-8261-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	087237e9-564b-46b8-8f1d-8de3406314b1	e0965003-39bc-46d9-83a7-7df655bdbf56	g.chrX:62857909C>T	ENST00000253401.6	-	10	2350	c.1550G>A	c.(1549-1551)tGa>tAa	p.*517*	ARHGEF9_ENST00000374870.4_Silent_p.*415*|ARHGEF9_ENST00000433323.2_Silent_p.*244*|ARHGEF9_ENST00000374872.1_Silent_p.*496*|ARHGEF9_ENST00000437457.2_Silent_p.*464*|ARHGEF9_ENST00000374878.1_Intron|ARHGEF9_ENST00000495564.1_5'UTR	NM_015185.2	NP_056000.1	O43307	ARHG9_HUMAN	Cdc42 guanine nucleotide exchange factor (GEF) 9	0					apoptotic signaling pathway (GO:0097190)|ion transmembrane transport (GO:0034220)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(14)|ovary(5)|pancreas(1)|skin(1)	35						CTGTAGGTATCATTTTTTGAA	0.403																																						ENST00000253401.6																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(14)|ovary(5)|pancreas(1)|skin(1)	35						c.(1549-1551)tGa>tAa		Cdc42 guanine nucleotide exchange factor (GEF) 9							51	46	48					X																	62857909		2203	4300	6503	SO:0001819	synonymous_variant	23229				apoptosis|induction of apoptosis by extracellular signals|ion transmembrane transport|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol	Rho guanyl-nucleotide exchange factor activity	g.chrX:62857909C>T	AB007884	CCDS35315.1, CCDS55429.1, CCDS55430.1	Xq11.1	2013-01-10			ENSG00000131089	ENSG00000131089		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	14561	protein-coding gene	gene with protein product	"collybistin"	300429				10559246, 9455477	Standard	NM_015185		Approved	KIAA0424, PEM-2	uc011mot.2	O43307	OTTHUMG00000021700	ENST00000253401.6:c.1550G>A	X.37:g.62857909C>T						ARHGEF9_ENST00000433323.2_Silent_p.*244*|ARHGEF9_ENST00000374872.1_Silent_p.*496*|ARHGEF9_ENST00000374870.4_Silent_p.*415*|ARHGEF9_ENST00000374878.1_Intron|ARHGEF9_ENST00000437457.2_Silent_p.*464*|ARHGEF9_ENST00000495564.1_5'UTR	p.*517*	NM_015185.2	NP_056000.1	O43307	ARHG9_HUMAN			10	2350	-			0					A8K1S8|B4DHC7|F8W7P8|Q5JSL6	Silent	SNP	ENST00000253401.6	37	c.1550G>A	CCDS35315.1																																																																																				0.403	ARHGEF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056937.1			6	1	0	0	0	1	0	6	1					T	62857909	C	T	62857909	2	4	234	1	0	0	0	0	0	0	0	1	912	837	29	3		3	ARHGEF9	23	62857909	Silent	SNP	C	TCGA-HC-8261-01A-11D-2260-08		62857909	92412651	43	10907											
RGAG4	340526	broad.mit.edu	37	chrX	71351091	71351091	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acgttaatcaaaagatcatcCgagatacagtcgggctccgc	13	8	9	11	4	2	2	2	0	0	2	5	3	4	2	2	1	1	2	2	1	4	2			TCGA-HC-8261-01A-11D-2260-08	TCGA-HC-8261-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	087237e9-564b-46b8-8f1d-8de3406314b1	e0965003-39bc-46d9-83a7-7df655bdbf56	g.chrX:71351091C>T	ENST00000545866.1	-	1	667	c.300G>A	c.(298-300)tcG>tcA	p.S100S	NHSL2_ENST00000510661.1_5'Flank|RGAG4_ENST00000609883.1_Silent_p.S100S|NHSL2_ENST00000373677.1_5'Flank|NHSL2_ENST00000535692.1_5'Flank|NHSL2_ENST00000540800.1_Intron	NM_001024455.3	NP_001019626.1	Q5HYW3	RGAG4_HUMAN	retrotransposon gag domain containing 4	100										cervix(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(8)|ovary(3)|skin(1)	24	Renal(35;0.156)					AAAGATCATCCGAGATACAGT	0.657																																						ENST00000545866.1																			0				cervix(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(8)|ovary(3)|skin(1)	24						c.(298-300)tcG>tcA		retrotransposon gag domain containing 4							20	24	23					X																	71351091		1910	4100	6010	SO:0001819	synonymous_variant	340526							g.chrX:71351091C>T	AB082532	CCDS55446.1	Xq13.1	2008-02-05			ENSG00000242732	ENSG00000242732			29430	protein-coding gene	gene with protein product						12056414, 15716091, 16093683	Standard	NM_001024455		Approved	KIAA2001, Mar5, Mart5	uc004eaj.2	Q5HYW3	OTTHUMG00000021808	ENST00000545866.1:c.300G>A	X.37:g.71351091C>T						NHSL2_ENST00000540800.1_Intron|RGAG4_ENST00000479991.1_Silent_p.S100S	p.S100S			Q5HYW3	RGAG4_HUMAN			1	667	-	Renal(35;0.156)		100					A7E2W7|Q8NCM4|Q9NPX1	Silent	SNP	ENST00000545866.1	37	c.300G>A	CCDS55446.1																																																																																				0.657	RGAG4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057171.1	NM_001024455		9	5	0	0	0	1	0	9	5					T	71351091	C	T	71351091	2	4	234	1	0	0	0	0	0	0	0	1	13275	639	23	2		2	RGAG4	23	71351091	Silent	SNP	C	TCGA-HC-8261-01A-11D-2260-08	8493182	71351091	83919469	44	10908											
PRDM16	63976	broad.mit.edu	37	chr1	3342257	3342257	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acctgtgcaaccgctgcttcGggcagcagaccaacctggac	9	6	11	15	2	0	1	0	0	0	1	1	2	0	2	4	2	5	5	4	2	2	1			TCGA-HC-8262-01A-11D-2260-08	TCGA-HC-8262-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e584de7a-84e8-4844-baec-3e5c0e6fbb9d	557d13df-5e0a-415f-847d-60d0b16f88c0	g.chr1:3342257G>A	ENST00000270722.5	+	13	3101	c.3052G>A	c.(3052-3054)Ggg>Agg	p.G1018R	PRDM16_ENST00000378398.3_Missense_Mutation_p.G1018R|PRDM16_ENST00000512462.1_3'UTR|PRDM16_ENST00000378391.2_Missense_Mutation_p.G1018R|PRDM16_ENST00000442529.2_Missense_Mutation_p.G1017R|PRDM16_ENST00000511072.1_Missense_Mutation_p.G1019R|PRDM16_ENST00000514189.1_Missense_Mutation_p.G1018R|PRDM16_ENST00000441472.2_Missense_Mutation_p.G1017R			Q9HAZ2	PRD16_HUMAN	PR domain containing 16	1018	Interaction with CTBP1 and CTBP2. {ECO:0000250}.|Mediates interaction with SKI and regulation of TGF-beta signaling.				brown fat cell differentiation (GO:0050873)|negative regulation of granulocyte differentiation (GO:0030853)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neurogenesis (GO:0022008)|palate development (GO:0060021)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cellular respiration (GO:0043457)|somatic stem cell maintenance (GO:0035019)|tongue development (GO:0043586)|transcription, DNA-templated (GO:0006351)|white fat cell differentiation (GO:0050872)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)			breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(3)	59	all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111)	all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134)		Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137)		CCGCTGCTTCGGGCAGCAGAC	0.642			T	EVI1	"MDS, AML"																																	ENST00000378398.3				Dom	yes		1	1p36.23-p33	63976	T	PR domain containing 16			L	EVI1		"MDS, AML"		0				breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(3)	59						c.(3052-3054)Ggg>Agg		PR domain containing 16							75	87	83					1																	3342257		2126	4241	6367	SO:0001583	missense	63976				brown fat cell differentiation|negative regulation of granulocyte differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cellular respiration|transcription, DNA-dependent	transcriptional repressor complex	protein binding|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding	g.chr1:3342257G>A	AF294278	CCDS41236.1, CCDS44048.1, CCDS41236.2, CCDS44048.2	1p36.23-p33	2013-01-08			ENSG00000142611	ENSG00000142611		"Zinc fingers, C2H2-type"	14000	protein-coding gene	gene with protein product	"MDS1/EVI1-like", "PR-domain zinc finger protein 16", "transcription factor MEL1"	605557				11050005	Standard	NM_199454		Approved	MEL1, PFM13, KIAA1675, MGC166915	uc001akf.3	Q9HAZ2	OTTHUMG00000000581	ENST00000270722.5:c.3052G>A	1.37:g.3342257G>A	ENSP00000270722:p.Gly1018Arg					PRDM16_ENST00000378391.2_Missense_Mutation_p.G1018R|PRDM16_ENST00000514189.1_Missense_Mutation_p.G1018R|PRDM16_ENST00000511072.1_Missense_Mutation_p.G1019R|PRDM16_ENST00000442529.2_Missense_Mutation_p.G1017R|PRDM16_ENST00000441472.2_Missense_Mutation_p.G1017R|PRDM16_ENST00000270722.5_Missense_Mutation_p.G1018R|PRDM16_ENST00000512462.1_3'UTR	p.G1018R			Q9HAZ2	PRD16_HUMAN		Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137)	14	3134	+	all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111)	all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134)	1018			Interaction with CTBP1 and CTBP2 (By similarity).|Mediates interaction with SKI and regulation of TGF-beta signaling.		A6NHQ8|B1AJP7|B1AJP8|B1AJP9|B1WB48|Q8WYJ9|Q9C0I8	Missense_Mutation	SNP	ENST00000270722.5	37	c.3052G>A	CCDS41236.2	.	.	.	.	.	.	.	.	.	.	G	26.3	4.721377	0.89298	.	.	ENSG00000142611	ENST00000511072;ENST00000378398;ENST00000441472;ENST00000442529;ENST00000378391;ENST00000514189;ENST00000270722;ENST00000512462;ENST00000408992;ENST00000509860	T;T;T;T;T;T;T;T;T	0.18174	2.23;2.23;2.23;2.23;2.23;2.23;2.23;2.23;2.23	4.01	4.01	0.46588	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.48767	U	0.000166	T	0.16896	0.0406	N	0.02011	-0.69	0.80722	D	1	P;P;D;P	0.61697	0.832;0.839;0.99;0.948	B;B;D;P	0.65010	0.176;0.347;0.931;0.597	T	0.51663	-0.8677	10	0.59425	D	0.04	.	16.0946	0.81112	0.0:0.0:1.0:0.0	.	1018;1018;1017;1017	Q9HAZ2;Q9HAZ2-2;F8WEV3;D3YTA5	PRD16_HUMAN;.;.;.	R	1019;1018;1017;1017;1018;1018;1018;834;834;826	ENSP00000426975:G1019R;ENSP00000367651:G1018R;ENSP00000407968:G1017R;ENSP00000405253:G1017R;ENSP00000367643:G1018R;ENSP00000421400:G1018R;ENSP00000270722:G1018R;ENSP00000422504:G834R;ENSP00000425796:G826R	ENSP00000270722:G1018R	G	+	1	0	PRDM16	3332117	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.664000	0.98607	1.776000	0.52262	0.455000	0.32223	GGG		0.642	PRDM16-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000001382.3	NM_022114		15	65	0	0	0	1	0	15	65					A	3342257	G	A	3342257	3	1	235	1	0	0	0	0	1	0	0	0	12457	1116	39	2	3102	2	PRDM16	1	3342257	Missense_Mutation	SNP	G	TCGA-HC-8262-01A-11D-2260-08		3342257	245908364	1	10909											
CASZ1	54897	broad.mit.edu	37	chr1	10709155	10709155	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatggccccgtccaaggTgctgaagagcgcgccgcatt	7	8	13	13	4	0	3	0	2	0	1	1	3	1	3	4	2	2	2	4	2	2	2			TCGA-HC-8262-01A-11D-2260-08	TCGA-HC-8262-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e584de7a-84e8-4844-baec-3e5c0e6fbb9d	557d13df-5e0a-415f-847d-60d0b16f88c0	g.chr1:10709155T>G	ENST00000377022.3	-	15	3447	c.3130A>C	c.(3130-3132)Acc>Ccc	p.T1044P	CASZ1_ENST00000344008.5_Missense_Mutation_p.T1044P|RP4-734G22.3_ENST00000606802.1_RNA	NM_001079843.2	NP_001073312.1	Q86V15	CASZ1_HUMAN	castor zinc finger 1	1044					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|large_intestine(13)|lung(18)|ovary(2)|prostate(5)|skin(2)|urinary_tract(1)	54	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)		CCGTCCAAGGTGCTGAAGAGC	0.622																																						ENST00000377022.3																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|large_intestine(13)|lung(18)|ovary(2)|prostate(5)|skin(2)|urinary_tract(1)	54						c.(3130-3132)Acc>Ccc		castor zinc finger 1							44	42	43					1																	10709155		2203	4300	6503	SO:0001583	missense	54897				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding	g.chr1:10709155T>G	AK000328	CCDS120.2, CCDS41246.1	1p36.22	2013-01-07	2007-02-02		ENSG00000130940	ENSG00000130940		"Zinc fingers, C2H2-type"	26002	protein-coding gene	gene with protein product	"zinc finger protein 693", "survival related gene"	609895	"castor homolog 1, zinc finger (Drosophila)"			16631614, 21252912	Standard	NM_001079843		Approved	FLJ20321, ZNF693, castor, cst, SRG	uc001aro.4	Q86V15	OTTHUMG00000002035	ENST00000377022.3:c.3130A>C	1.37:g.10709155T>G	ENSP00000366221:p.Thr1044Pro					CASZ1_ENST00000344008.5_Missense_Mutation_p.T1044P|RP4-734G22.3_ENST00000606802.1_RNA	p.T1044P	NM_001079843.1	NP_001073312.1	Q86V15	CASZ1_HUMAN	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)	15	3447	-	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	1044					Q078S9|Q2EN02|Q5T9S1|Q6ZNM8|Q8WX49|Q8WX50|Q9BT16|Q9NXC6	Missense_Mutation	SNP	ENST00000377022.3	37	c.3130A>C	CCDS41246.1	.	.	.	.	.	.	.	.	.	.	T	36	5.669166	0.96754	.	.	ENSG00000130940	ENST00000377022;ENST00000344008	.	.	.	5.37	5.37	0.77165	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);	0.095279	0.64402	D	0.000001	T	0.76154	0.3948	L	0.59436	1.845	0.54753	D	0.999986	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.78669	-0.2114	9	0.72032	D	0.01	-37.5843	15.4012	0.74843	0.0:0.0:0.0:1.0	.	1044;1044	Q86V15-2;Q86V15	.;CASZ1_HUMAN	P	1044	.	ENSP00000339445:T1044P	T	-	1	0	CASZ1	10631742	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.787000	0.85759	2.030000	0.59900	0.523000	0.50628	ACC		0.622	CASZ1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005673.2	NM_017766		4	29	0	0	0	1	0	4	29					G	10709155	T	G	10709155	3	3	235	1	0	0	0	0	1	0	0	0	2685	1696	59	5	2181	5	CASZ1	1	10709155	Missense_Mutation	SNP	T	TCGA-HC-8262-01A-11D-2260-08	7366898	10709155	238541466	2	10910											
PDE4DIP	9659	broad.mit.edu	37	chr1	144930736	144930736	+	Intron	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tccatctgtcatgctagggcCaggcttggctccaggtaggc	6	10	13	12	0	2	0	1	0	1	0	4	0	4	0	3	5	1	4	3	5	2	3			TCGA-HC-8262-01A-11D-2260-08	TCGA-HC-8262-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e584de7a-84e8-4844-baec-3e5c0e6fbb9d	557d13df-5e0a-415f-847d-60d0b16f88c0	g.chr1:144930736C>T	ENST00000369354.3	-	6	826				PDE4DIP_ENST00000313382.9_Intron|PDE4DIP_ENST00000529945.1_Missense_Mutation_p.G325S|PDE4DIP_ENST00000369349.3_Intron|PDE4DIP_ENST00000369359.4_Intron|PDE4DIP_ENST00000369356.4_Intron|PDE4DIP_ENST00000530740.1_Intron|PDE4DIP_ENST00000479408.2_Intron|PDE4DIP_ENST00000369351.3_Intron|PDE4DIP_ENST00000313431.9_Missense_Mutation_p.G325S			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein						cellular protein complex assembly (GO:0043623)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|myofibril (GO:0030016)|nucleus (GO:0005634)	enzyme binding (GO:0019899)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		ATGCTAGGGCCAGGCTTGGCT	0.498			T	PDGFRB	MPD																																	ENST00000529945.1				Dom	yes		1	1q12	9659	T	phosphodiesterase 4D interacting protein (myomegalin)			L	PDGFRB		MPD		0				NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176						c.(973-975)Ggc>Agc		phosphodiesterase 4D interacting protein							110	116	114					1																	144930736		2203	4300	6503	SO:0001627	intron_variant	9659				cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding	g.chr1:144930736C>T	AB007923, AB007946	CCDS72887.1, CCDS72888.1, CCDS72889.1, CCDS72890.1, CCDS72891.1, CCDS72892.1, CCDS72893.1, CCDS72894.1	1q21.1	2008-07-31	2008-07-31		ENSG00000178104	ENSG00000178104			15580	protein-coding gene	gene with protein product	"myomegalin"	608117	"cardiomyopathy associated 2"	CMYA2		9455484, 11134006	Standard	NM_022359		Approved	KIAA0477, KIAA0454, MMGL	uc021ouh.1	Q5VU43	OTTHUMG00000013846	ENST00000369354.3:c.637-6915G>A	1.37:g.144930736C>T						PDE4DIP_ENST00000369349.3_Intron|PDE4DIP_ENST00000369351.3_Intron|PDE4DIP_ENST00000369354.3_Intron|PDE4DIP_ENST00000369356.4_Intron|PDE4DIP_ENST00000369359.4_Intron|PDE4DIP_ENST00000313431.9_Missense_Mutation_p.G325S|PDE4DIP_ENST00000530740.1_Intron|PDE4DIP_ENST00000479408.2_Intron|PDE4DIP_ENST00000313382.9_Intron	p.G325S			Q5VU43	MYOME_HUMAN		Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)	1	1412	-			0					A2RU15|O75042|O75065|Q2YDC1|Q5VU42|Q5VU44|Q5VU45|Q5VU46|Q5VU47|Q5VU48|Q5VU49|Q68DU2|Q6AZ93|Q6PK88|Q86T40|Q86TB2|Q8N3W0|Q8TAY9|Q9HCP2|Q9HCP3|Q9HCP4|Q9HCP5	Missense_Mutation	SNP	ENST00000369354.3	37	c.973G>A	CCDS30824.1	.	.	.	.	.	.	.	.	.	.	C	13.85	2.360841	0.41801	.	.	ENSG00000178104	ENST00000369353;ENST00000313431;ENST00000529945	T;T	0.10960	2.83;2.82	5.58	4.67	0.58626	.	.	.	.	.	T	0.02119	0.0066	L	0.31294	0.92	0.80722	D	1	P	0.38335	0.627	B	0.32211	0.142	T	0.39542	-0.9609	9	0.10111	T	0.7	.	8.7246	0.34460	0.0:0.829:0.0:0.171	.	325	Q5VU43-2	.	S	325	ENSP00000316434:G325S;ENSP00000433392:G325S	ENSP00000316434:G325S	G	-	1	0	PDE4DIP	143642093	0.972000	0.33761	1.000000	0.80357	0.960000	0.62799	0.391000	0.20784	1.374000	0.46228	0.650000	0.86243	GGC		0.498	PDE4DIP-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000038858.2	NM_022359		7	103	0	0	0	1	0	7	103					T	144930736	C	T	144930736	1	4	235	0	1	0	0	0	0	0	0	0	11643	594	21	3		3	PDE4DIP	1	144930736	Intron	SNP	C	TCGA-HC-8262-01A-11D-2260-08	134221581	144930736	104319885	3	10911											
KIRREL	55243	broad.mit.edu	37	chr1	158063224	158063224	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggtattcttcctctaccggCgccgcaaaggcagtgagtat	8	11	11	11	3	2	1	0	1	2	0	3	1	3	1	3	3	1	4	3	3	4	5			TCGA-HC-8262-01A-11D-2260-08	TCGA-HC-8262-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e584de7a-84e8-4844-baec-3e5c0e6fbb9d	557d13df-5e0a-415f-847d-60d0b16f88c0	g.chr1:158063224C>T	ENST00000359209.6	+	12	1634	c.1567C>T	c.(1567-1569)Cgc>Tgc	p.R523C	KIRREL_ENST00000360089.4_Missense_Mutation_p.R359C|KIRREL_ENST00000368172.1_Missense_Mutation_p.R337C|KIRREL_ENST00000416935.2_Missense_Mutation_p.R423C|KIRREL_ENST00000392272.2_Missense_Mutation_p.R420C|KIRREL_ENST00000368173.3_Missense_Mutation_p.R539C			Q96J84	KIRR1_HUMAN	kin of IRRE like (Drosophila)	523					excretion (GO:0007588)|negative regulation of protein phosphorylation (GO:0001933)|positive regulation of actin filament polymerization (GO:0030838)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|dendritic shaft (GO:0043198)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	myosin binding (GO:0017022)	p.R359S(1)|p.R539S(1)		NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(5)|skin(3)|stomach(1)	38	all_hematologic(112;0.0378)					CCTCTACCGGCGCCGCAAAGG	0.602																																						ENST00000368172.1																			2	Substitution - Missense(2)	p.R359S(1)|p.R539S(1)	prostate(2)	NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(5)|skin(3)|stomach(1)	38						c.(1009-1011)Cgc>Tgc		kin of IRRE like (Drosophila)							126	124	125					1																	158063224		2203	4300	6503	SO:0001583	missense	55243					integral to membrane		g.chr1:158063224C>T	AK001707	CCDS1172.2, CCDS72952.1	1q21-q25	2013-01-29			ENSG00000183853	ENSG00000183853		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	15734	protein-coding gene	gene with protein product	"nephrin-like protein 1"	607428				12424224	Standard	NM_001286349		Approved	NEPH1	uc001frn.4	Q96J84	OTTHUMG00000022438	ENST00000359209.6:c.1567C>T	1.37:g.158063224C>T	ENSP00000352138:p.Arg523Cys					KIRREL_ENST00000359209.6_Missense_Mutation_p.R523C|KIRREL_ENST00000392272.2_Missense_Mutation_p.R420C|KIRREL_ENST00000416935.2_Missense_Mutation_p.R423C|KIRREL_ENST00000368173.3_Missense_Mutation_p.R539C|KIRREL_ENST00000360089.4_Missense_Mutation_p.R359C	p.R337C			Q96J84	KIRR1_HUMAN			8	1021	+	all_hematologic(112;0.0378)		523			Ig-like C2-type 4.		Q5W0F8|Q5XKC6|Q7Z696|Q7Z7N8|Q8TB15|Q9H9N1|Q9NVA5	Missense_Mutation	SNP	ENST00000359209.6	37	c.1009C>T	CCDS1172.2	.	.	.	.	.	.	.	.	.	.	C	32	5.163967	0.94727	.	.	ENSG00000183853	ENST00000360089;ENST00000368173;ENST00000392272;ENST00000359209;ENST00000416935;ENST00000368172	T;T;T;T;T;T	0.72615	0.27;-0.67;-0.06;-0.31;-0.24;0.13	5.71	5.71	0.89125	.	0.000000	0.44097	D	0.000496	T	0.78496	0.4292	L	0.58101	1.795	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;P;P;P	0.69479	0.964;0.902;0.869;0.869	T	0.80101	-0.1523	10	0.87932	D	0	-22.1428	17.337	0.87285	0.0:1.0:0.0:0.0	.	423;359;337;523	B4DN67;Q5W0F9;Q5W0G0;Q96J84	.;.;.;KIRR1_HUMAN	C	359;539;420;523;423;337	ENSP00000353202:R359C;ENSP00000357155:R539C;ENSP00000376098:R420C;ENSP00000352138:R523C;ENSP00000389674:R423C;ENSP00000357154:R337C	ENSP00000352138:R523C	R	+	1	0	KIRREL	156329848	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.272000	0.78516	2.692000	0.91855	0.491000	0.48974	CGC		0.602	KIRREL-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058342.3	NM_018240		20	51	0	0	0	1	0	20	51					T	158063224	C	T	158063224	3	4	235	1	0	0	0	0	1	0	0	0	8324	768	27	1	1613	1	KIRREL	1	158063224	Missense_Mutation	SNP	C	TCGA-HC-8262-01A-11D-2260-08	13132488	158063224	91187397	4	10912											
OR10K2	391107	broad.mit.edu	37	chr1	158390650	158390650	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caccacagtctcattgacccGctccatggagcatacatcat	11	9	6	15	1	2	1	2	1	1	0	4	2	3	2	3	1	2	2	3	1	1	2			TCGA-HC-8262-01A-11D-2260-08	TCGA-HC-8262-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e584de7a-84e8-4844-baec-3e5c0e6fbb9d	557d13df-5e0a-415f-847d-60d0b16f88c0	g.chr1:158390650G>A	ENST00000314902.2	-	1	6	c.7C>T	c.(7-9)Cgg>Tgg	p.R3W		NM_001004476.1	NP_001004476.1	Q6IF99	O10K2_HUMAN	olfactory receptor, family 10, subfamily K, member 2	3						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(19)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_hematologic(112;0.0378)					TCATTGACCCGCTCCATGGAG	0.478																																						ENST00000314902.2																			0				NS(1)|breast(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(19)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(7-9)Cgg>Tgg		olfactory receptor, family 10, subfamily K, member 2							39	35	36					1																	158390650		2202	4300	6502	SO:0001583	missense	391107				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158390650G>A	AB065642	CCDS30896.1	1q23.1	2012-08-09			ENSG00000180708	ENSG00000180708		"GPCR / Class A : Olfactory receptors"	14826	protein-coding gene	gene with protein product							Standard	NM_001004476		Approved		uc010pii.2	Q6IF99	OTTHUMG00000019638	ENST00000314902.2:c.7C>T	1.37:g.158390650G>A	ENSP00000324251:p.Arg3Trp						p.R3W	NM_001004476.1	NP_001004476.1	Q6IF99	O10K2_HUMAN			1	6	-	all_hematologic(112;0.0378)		3						Missense_Mutation	SNP	ENST00000314902.2	37	c.7C>T	CCDS30896.1	.	.	.	.	.	.	.	.	.	.	G	10.38	1.335347	0.24253	.	.	ENSG00000180708	ENST00000314902	T	0.09911	2.93	4.1	-8.19	0.01049	.	2.436120	0.01724	N	0.028459	T	0.02119	0.0066	L	0.39633	1.23	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.35251	-0.9796	10	0.49607	T	0.09	.	2.7044	0.05158	0.1649:0.1121:0.4323:0.2907	.	3	Q6IF99	O10K2_HUMAN	W	3	ENSP00000324251:R3W	ENSP00000324251:R3W	R	-	1	2	OR10K2	156657274	0.000000	0.05858	0.003000	0.11579	0.929000	0.56500	-1.807000	0.01734	-1.605000	0.01593	-0.373000	0.07131	CGG		0.478	OR10K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051854.1	NM_001004476		3	34	0	0	0	1	0	3	34					A	158390650	G	A	158390650	3	1	235	1	0	0	0	0	1	0	0	0	10914	1086	38	1	933	1	OR10K2	1	158390650	Missense_Mutation	SNP	G	TCGA-HC-8262-01A-11D-2260-08	327426	158390650	90859971	5	10913											
ITLN1	55600	broad.mit.edu	37	chr1	160851965	160851965	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaggtctggtagataacacCattctcagtgcggagaaaat	14	9	11	7	1	2	2	1	0	2	2	3	4	2	2	1	3	2	1	1	3	5	3			TCGA-HC-8262-01A-11D-2260-08	TCGA-HC-8262-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e584de7a-84e8-4844-baec-3e5c0e6fbb9d	557d13df-5e0a-415f-847d-60d0b16f88c0	g.chr1:160851965C>T	ENST00000326245.3	-	4	302	c.187G>A	c.(187-189)Ggt>Agt	p.G63S	ITLN1_ENST00000487531.1_5'Flank	NM_017625.2	NP_060095.2	Q8WWA0	ITLN1_HUMAN	intelectin 1 (galactofuranose binding)	63	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				positive regulation of glucose import (GO:0046326)|positive regulation of protein phosphorylation (GO:0001934)|response to nematode (GO:0009624)	anchored component of membrane (GO:0031225)|brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|membrane raft (GO:0045121)|receptor complex (GO:0043235)	carbohydrate binding (GO:0030246)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	21	all_cancers(52;2.99e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			TAGATAACACCATTCTCAGTG	0.557																																						ENST00000326245.3																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	21						c.(187-189)Ggt>Agt		intelectin 1 (galactofuranose binding)							85	75	78					1																	160851965		2203	4300	6503	SO:0001583	missense	55600				positive regulation of glucose import|positive regulation of protein phosphorylation|response to nematode|signal transduction	anchored to membrane|brush border membrane|extracellular region|membrane raft	receptor binding|sugar binding	g.chr1:160851965C>T	AB036706	CCDS1211.1	1q21.3	2008-02-05			ENSG00000179914	ENSG00000179914			18259	protein-coding gene	gene with protein product		609873				11313366, 11181563	Standard	NM_017625		Approved	ITLN, FLJ20022, LFR, HL-1, hIntL	uc001fxc.3	Q8WWA0	OTTHUMG00000028604	ENST00000326245.3:c.187G>A	1.37:g.160851965C>T	ENSP00000323587:p.Gly63Ser						p.G63S	NM_017625.2	NP_060095.2	Q8WWA0	ITLN1_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00737)		4	302	-	all_cancers(52;2.99e-17)|all_hematologic(112;0.093)		63			Fibrinogen C-terminal.		Q5IWS4|Q5VYI4|Q6YDJ3|Q9NP67	Missense_Mutation	SNP	ENST00000326245.3	37	c.187G>A	CCDS1211.1	.	.	.	.	.	.	.	.	.	.	C	17.27	3.347463	0.61183	.	.	ENSG00000179914	ENST00000326245	D	0.93366	-3.21	4.17	2.29	0.28610	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (3);Fibrinogen, alpha/beta/gamma chain, C-terminal globular, subdomain 1 (1);	0.082034	0.47093	D	0.000249	D	0.88280	0.6394	L	0.46670	1.46	0.47065	D	0.999306	P	0.48503	0.911	P	0.50860	0.652	D	0.85382	0.1120	10	0.41790	T	0.15	-6.8108	8.0482	0.30562	0.0:0.7963:0.0:0.2037	.	63	Q8WWA0	ITLN1_HUMAN	S	63	ENSP00000323587:G63S	ENSP00000323587:G63S	G	-	1	0	ITLN1	159118589	0.775000	0.28604	0.383000	0.26132	0.675000	0.39556	2.882000	0.48546	0.399000	0.25367	0.655000	0.94253	GGT		0.557	ITLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071462.1	NM_017625		17	40	0	0	0	1	0	17	40					T	160851965	C	T	160851965	3	4	235	1	0	0	0	0	1	0	0	0	7910	594	21	3	774	3	ITLN1	1	160851965	Missense_Mutation	SNP	C	TCGA-HC-8262-01A-11D-2260-08	2461315	160851965	88398656	6	10914											
MDM4	4194	broad.mit.edu	37	chr1	204513776	204513776	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gaagctgctgatactgaacaAacaagtgaagaagtagggaa	18	6	12	5	0	0	4	0	3	0	1	0	6	0	5	0	1	5	3	0	1	9	2			TCGA-HC-8262-01A-11D-2260-08	TCGA-HC-8262-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e584de7a-84e8-4844-baec-3e5c0e6fbb9d	557d13df-5e0a-415f-847d-60d0b16f88c0	g.chr1:204513776A>C	ENST00000367182.3	+	9	948	c.786A>C	c.(784-786)caA>caC	p.Q262H	MDM4_ENST00000391947.2_3'UTR|MDM4_ENST00000367183.3_Intron|MDM4_ENST00000463049.1_3'UTR|MDM4_ENST00000507825.2_Intron|MDM4_ENST00000454264.2_Intron	NM_001204171.1|NM_001278516.1|NM_001278517.1|NM_001278518.1|NM_001278519.1|NM_002393.4	NP_001191100.1|NP_001265445.1|NP_001265446.1|NP_001265447.1|NP_001265448.1|NP_002384.2	O15151	MDM4_HUMAN	MDM4, p53 regulator	262	Asp/Glu-rich (acidic).|Region II.				cell proliferation (GO:0008283)|cellular response to hypoxia (GO:0071456)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|G0 to G1 transition (GO:0045023)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell cycle arrest (GO:0071157)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell proliferation (GO:0008284)|protein complex assembly (GO:0006461)|protein stabilization (GO:0050821)	nucleus (GO:0005634)	enzyme binding (GO:0019899)|zinc ion binding (GO:0008270)			central_nervous_system(2)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	16	all_cancers(21;0.00146)|all_neural(3;0.0218)|Glioma(3;0.0382)|Breast(84;0.112)|all_epithelial(62;0.118)|Prostate(682;0.227)		GBM - Glioblastoma multiforme(2;3.15e-47)|all cancers(3;3.56e-32)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|Epithelial(59;0.143)|BRCA - Breast invasive adenocarcinoma(75;0.143)			ATACTGAACAAACAAGTGAAG	0.363			A		"GBM, bladder, retinoblastoma"																																	ENST00000367182.3				Dom	yes		1	1q32	4194	A	Mdm4 p53 binding protein homolog			M			"GBM, bladder, retinoblastoma"		0				central_nervous_system(2)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	16						c.(784-786)caA>caC		Mdm4 p53 binding protein homolog (mouse)							138	138	138					1																	204513776		2203	4300	6503	SO:0001583	missense	4194				apoptosis|cell proliferation|cellular response to hypoxia|G0 to G1 transition|negative regulation of apoptosis|negative regulation of cell cycle arrest|negative regulation of cell proliferation|negative regulation of protein catabolic process|negative regulation of transcription from RNA polymerase II promoter|protein complex assembly|protein stabilization	nucleus	enzyme binding|zinc ion binding	g.chr1:204513776A>C	AF007111	CCDS1447.1, CCDS55674.1, CCDS55675.1, CCDS60396.1, CCDS73007.1, CCDS73008.1, CCDS73009.1	1q32	2014-03-03	2014-03-03		ENSG00000198625	ENSG00000198625			6974	protein-coding gene	gene with protein product		602704	"mouse double minute 4, human homolog of; p53-binding protein", "Mdm4, transformed 3T3 cell double minute 4, p53 binding protein (mouse)", "Mdm4 p53 binding protein homolog (mouse)"			9226370, 14660608	Standard	NM_002393		Approved	MDMX, HDMX	uc001hba.3	O15151	OTTHUMG00000035877	ENST00000367182.3:c.786A>C	1.37:g.204513776A>C	ENSP00000356150:p.Gln262His					MDM4_ENST00000391947.2_3'UTR|MDM4_ENST00000367183.3_Intron|MDM4_ENST00000454264.2_Intron|MDM4_ENST00000463049.1_3'UTR|MDM4_ENST00000507825.2_Intron	p.Q262H	NM_001204171.1|NM_001278516.1|NM_001278517.1|NM_001278518.1|NM_001278519.1|NM_002393.4	NP_001191100.1|NP_001265445.1|NP_001265446.1|NP_001265447.1|NP_001265448.1|NP_002384.2	O15151	MDM4_HUMAN	GBM - Glioblastoma multiforme(2;3.15e-47)|all cancers(3;3.56e-32)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|Epithelial(59;0.143)|BRCA - Breast invasive adenocarcinoma(75;0.143)		9	948	+	all_cancers(21;0.00146)|all_neural(3;0.0218)|Glioma(3;0.0382)|Breast(84;0.112)|all_epithelial(62;0.118)|Prostate(682;0.227)		262			Asp/Glu-rich (acidic).|Region II.		Q2M2Y2|Q32SL2|Q6GS18|Q8IV83	Missense_Mutation	SNP	ENST00000367182.3	37	c.786A>C	CCDS1447.1	.	.	.	.	.	.	.	.	.	.	A	12.78	2.041121	0.35989	.	.	ENSG00000198625	ENST00000367182;ENST00000367179	T;T	0.09630	2.96;2.96	5.57	1.89	0.25635	.	0.555351	0.21950	N	0.066744	T	0.06508	0.0167	N	0.22421	0.69	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.31998	-0.9923	10	0.45353	T	0.12	-1.1898	5.2442	0.15488	0.5638:0.284:0.1522:0.0	.	262	O15151	MDM4_HUMAN	H	262;147	ENSP00000356150:Q262H;ENSP00000356147:Q147H	ENSP00000356147:Q147H	Q	+	3	2	MDM4	202780399	0.968000	0.33430	0.865000	0.33974	0.950000	0.60333	0.774000	0.26675	0.070000	0.16634	0.459000	0.35465	CAA		0.363	MDM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087415.2	NM_002393		15	31	0	0	0	1	0	15	31					C	204513776	A	C	204513776	3	2	235	1	0	0	0	0	1	0	0	0	9414	11	1	5	816	5	MDM4	1	204513776	Missense_Mutation	SNP	A	TCGA-HC-8262-01A-11D-2260-08	43661811	204513776	44736845	7	10915											
USH2A	7399	broad.mit.edu	37	chr1	215963438	215963438	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttgaaatcttgtcagagcaaAcatatttcaaaggattatat	16	14	6	5	0	3	2	2	1	1	1	3	3	3	3	0	1	2	1	0	1	6	6			TCGA-HC-8262-01A-11D-2260-08	TCGA-HC-8262-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e584de7a-84e8-4844-baec-3e5c0e6fbb9d	557d13df-5e0a-415f-847d-60d0b16f88c0	g.chr1:215963438A>T	ENST00000307340.3	-	51	10531	c.10145T>A	c.(10144-10146)gTt>gAt	p.V3382D	USH2A_ENST00000366943.2_Missense_Mutation_p.V3382D	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	3382					hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		GTCAGAGCAAACATATTTCAA	0.378										HNSCC(13;0.011)																												ENST00000366943.2																			0				NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527						c.(10144-10146)gTt>gAt		Usher syndrome 2A (autosomal recessive, mild)							95	95	95					1																	215963438		2203	4300	6503	SO:0001583	missense	7399				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	g.chr1:215963438A>T	AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"Fibronectin type III domain containing"	12601	protein-coding gene	gene with protein product	"usherin"	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.10145T>A	1.37:g.215963438A>T	ENSP00000305941:p.Val3382Asp	HNSCC(13;0.011)				USH2A_ENST00000307340.3_Missense_Mutation_p.V3382D	p.V3382D			O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	51	10531	-			3382					Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	c.10145T>A	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	A	23.2	4.386203	0.82902	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	T;T	0.21191	2.02;2.02	5.76	5.76	0.90799	Fibronectin, type III (2);	0.000000	0.40554	N	0.001065	T	0.50377	0.1612	M	0.80616	2.505	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.55604	-0.8115	10	0.87932	D	0	.	16.0843	0.81031	1.0:0.0:0.0:0.0	.	3382	O75445	USH2A_HUMAN	D	3382	ENSP00000305941:V3382D;ENSP00000355910:V3382D	ENSP00000305941:V3382D	V	-	2	0	USH2A	214030061	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.478000	0.90428	2.191000	0.70037	0.533000	0.62120	GTT		0.378	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		13	47	0	0	0	1	0	13	47					T	215963438	A	T	215963438	3	4	235	1	0	0	0	0	1	0	0	0	17033	43	2	5	5551	5	USH2A	1	215963438	Missense_Mutation	SNP	A	TCGA-HC-8262-01A-11D-2260-08	11449662	215963438	33287183	8	10916											
RNF144A	9781	broad.mit.edu	37	chr2	7160686	7160686	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctccaggacgtggggctgcaGaccccccagccagtgcagtg	7	5	14	15	1	0	1	0	0	0	1	1	2	1	2	5	3	3	3	5	3	0	0			TCGA-HC-8262-01A-11D-2260-08	TCGA-HC-8262-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e584de7a-84e8-4844-baec-3e5c0e6fbb9d	557d13df-5e0a-415f-847d-60d0b16f88c0	g.chr2:7160686G>A	ENST00000320892.6	+	6	826	c.384G>A	c.(382-384)caG>caA	p.Q128Q	RNF144A_ENST00000467276.1_3'UTR	NM_014746.3	NP_055561.2	P50876	R144A_HUMAN	ring finger protein 144A	128					protein ubiquitination (GO:0016567)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|prostate(1)	25	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)	all_cancers(51;0.226)		OV - Ovarian serous cystadenocarcinoma(76;0.195)		TGGGGCTGCAGACCCCCCAGC	0.627																																						ENST00000320892.6																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|prostate(1)	25						c.(382-384)caG>caA		ring finger protein 144A							69	66	67					2																	7160686		2203	4300	6503	SO:0001819	synonymous_variant	9781					Golgi apparatus|integral to membrane	ligase activity|zinc ion binding	g.chr2:7160686G>A	D79983	CCDS1657.1	2p25.2	2008-02-05	2007-08-20	2007-08-20	ENSG00000151692	ENSG00000151692		"RING-type (C3HC4) zinc fingers"	20457	protein-coding gene	gene with protein product			"ring finger protein 144"	RNF144		8724849, 10431818	Standard	NM_014746		Approved	UBCE7IP4, KIAA0161	uc002qys.3	P50876	OTTHUMG00000090353	ENST00000320892.6:c.384G>A	2.37:g.7160686G>A						RNF144A_ENST00000467276.1_3'UTR	p.Q128Q	NM_014746.3	NP_055561.2	P50876	R144A_HUMAN		OV - Ovarian serous cystadenocarcinoma(76;0.195)	6	826	+	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)	all_cancers(51;0.226)	128					D6W4Y6|Q585H5	Silent	SNP	ENST00000320892.6	37	c.384G>A	CCDS1657.1	.	.	.	.	.	.	.	.	.	.	G	9.462	1.093413	0.20471	.	.	ENSG00000151692	ENST00000432850	.	.	.	5.24	2.39	0.29439	.	.	.	.	.	T	0.58380	0.2118	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.53107	-0.8485	4	.	.	.	.	9.1513	0.36965	0.1396:0.1229:0.7375:0.0	.	.	.	.	K	124	.	.	R	+	2	0	RNF144A	7078137	0.998000	0.40836	1.000000	0.80357	0.997000	0.91878	0.625000	0.24477	0.696000	0.31696	0.561000	0.74099	AGA		0.627	RNF144A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206725.2	NM_014746		14	70	0	0	0	1	0	14	70					A	7160686	G	A	7160686	2	1	235	1	0	0	0	0	0	0	0	1	13445	933	33	3		3	RNF144A	2	7160686	Silent	SNP	G	TCGA-HC-8262-01A-11D-2260-08		7160686	236038687	9	10917											
GREB1	9687	broad.mit.edu	37	chr2	11750979	11750979	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tccccgaagcagtgcccctgCggccacgggctcatggtcct	5	7	12	17	3	1	0	1	0	0	0	3	1	3	0	6	3	3	2	6	3	1	0	rs182841070	byFrequency	TCGA-HC-8262-01A-11D-2260-08	TCGA-HC-8262-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e584de7a-84e8-4844-baec-3e5c0e6fbb9d	557d13df-5e0a-415f-847d-60d0b16f88c0	g.chr2:11750979C>T	ENST00000381486.2	+	18	3132	c.2832C>T	c.(2830-2832)tgC>tgT	p.C944C	GREB1_ENST00000396123.1_5'Flank|GREB1_ENST00000234142.5_Silent_p.C944C	NM_014668.3	NP_055483.2	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	944						integral component of membrane (GO:0016021)				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		AGTGCCCCTGCGGCCACGGGC	0.687													C|||	16	0.00319489	0.0106	0.0029	5008	,	,		16528	0		0	False		,,,				2504	0				Ovarian(39;850 945 2785 23371 33093)	ENST00000381486.2																			0				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30						c.(2830-2832)tgC>tgT		growth regulation by estrogen in breast cancer 1		C		27,4085		0,27,2029	31	35	33		2832	-1.9	1	2		33	2,8386		0,2,4192	no	coding-synonymous	GREB1	NM_014668.3		0,29,6221	TT,TC,CC		0.0238,0.6566,0.232		944/1950	11750979	29,12471	2056	4194	6250	SO:0001819	synonymous_variant	9687					integral to membrane		g.chr2:11750979C>T		CCDS33146.1, CCDS33147.1, CCDS42655.1	2p25.1	2010-02-17	2009-09-10		ENSG00000196208	ENSG00000196208			24885	protein-coding gene	gene with protein product	"gene regulated by estrogen in breast cancer"	611736				11103799	Standard	NM_014668		Approved	KIAA0575	uc002rbk.1	Q4ZG55	OTTHUMG00000141276	ENST00000381486.2:c.2832C>T	2.37:g.11750979C>T						GREB1_ENST00000234142.5_Silent_p.C944C	p.C944C	NM_014668.3	NP_055483.2	Q4ZG55	GREB1_HUMAN		Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)	18	3132	+	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		944					A6NHD0|A6NKN0|B5MDA9|O60321|Q7Z5S2|Q9H2Q6|Q9H2Q7|Q9H2Q8	Silent	SNP	ENST00000381486.2	37	c.2832C>T	CCDS42655.1																																																																																				0.687	GREB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280490.1	NM_014668		3	55	0	0	0	1	0	3	55					T	11750979	C	T	11750979	2	4	235	1	0	0	0	0	0	0	0	1	6760	776	27	1		1	GREB1	2	11750979	Silent	SNP	C	TCGA-HC-8262-01A-11D-2260-08	4590293	11750979	231448394	10	10918											
ACTR3	10096	broad.mit.edu	37	chr2	114714958	114714958	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgagttctaccaagtatgcCacaccaaaaaggattatgaa	16	9	7	9	0	1	2	0	2	1	0	1	3	1	3	3	1	2	2	3	1	7	4			TCGA-HC-8262-01A-11D-2260-08	TCGA-HC-8262-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e584de7a-84e8-4844-baec-3e5c0e6fbb9d	557d13df-5e0a-415f-847d-60d0b16f88c0	g.chr2:114714958C>G	ENST00000263238.2	+	12	1503	c.1183C>G	c.(1183-1185)Cac>Gac	p.H395D	ACTR3_ENST00000536059.1_Missense_Mutation_p.H333D|ACTR3_ENST00000535589.2_Missense_Mutation_p.H344D	NM_001277140.1|NM_005721.3	NP_001264069.1|NP_005712.1	P61158	ARP3_HUMAN	ARP3 actin-related protein 3 homolog (yeast)	395					Arp2/3 complex-mediated actin nucleation (GO:0034314)|asymmetric cell division (GO:0008356)|cellular component movement (GO:0006928)|cilium morphogenesis (GO:0060271)|establishment or maintenance of cell polarity (GO:0007163)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|meiotic chromosome movement towards spindle pole (GO:0016344)|meiotic cytokinesis (GO:0033206)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of lamellipodium assembly (GO:0010592)|positive regulation of neuron differentiation (GO:0045666)|regulation of myosin II filament organization (GO:0043519)|response to antibiotic (GO:0046677)|response to carbohydrate (GO:0009743)|spindle localization (GO:0051653)	actin cytoskeleton (GO:0015629)|Arp2/3 protein complex (GO:0005885)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|excitatory synapse (GO:0060076)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi membrane (GO:0000139)|hemidesmosome (GO:0030056)|lamellipodium (GO:0030027)|membrane (GO:0016020)|podosome (GO:0002102)	ATP binding (GO:0005524)|structural constituent of cytoskeleton (GO:0005200)			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|skin(2)	15						CCAAGTATGCCACACCAAAAA	0.338																																						ENST00000263238.2																			0				autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|skin(2)	15						c.(1183-1185)Cac>Gac		ARP3 actin-related protein 3 homolog (yeast)							123	116	118					2																	114714958		2203	4300	6503	SO:0001583	missense	10096				cellular component movement|cilium morphogenesis	Arp2/3 protein complex	actin binding|ATP binding	g.chr2:114714958C>G	AF006083	CCDS33277.1, CCDS63000.1	2q14.1	2010-07-20	2001-11-28		ENSG00000115091	ENSG00000115091			170	protein-coding gene	gene with protein product		604222	"ARP3 (actin-related protein 3, yeast) homolog"			9230079	Standard	NM_005721		Approved	ARP3	uc002tkx.2	P61158	OTTHUMG00000153497	ENST00000263238.2:c.1183C>G	2.37:g.114714958C>G	ENSP00000263238:p.His395Asp					ACTR3_ENST00000536059.1_Missense_Mutation_p.H333D|ACTR3_ENST00000535589.2_Missense_Mutation_p.H344D	p.H395D	NM_001277140.1|NM_005721.3	NP_001264069.1|NP_005712.1	P61158	ARP3_HUMAN			12	1503	+			395					P32391|Q53QM2	Missense_Mutation	SNP	ENST00000263238.2	37	c.1183C>G	CCDS33277.1	.	.	.	.	.	.	.	.	.	.	C	18.65	3.668627	0.67814	.	.	ENSG00000115091	ENST00000263238;ENST00000536059;ENST00000544784;ENST00000535589	D;D;D	0.94280	-3.39;-3.39;-3.39	4.99	4.99	0.66335	.	0.000000	0.85682	D	0.000000	D	0.97598	0.9213	M	0.94101	3.495	0.80722	D	1	D;D	0.76494	0.997;0.999	D;D	0.78314	0.964;0.991	D	0.98192	1.0463	10	0.59425	D	0.04	-22.8111	18.4573	0.90725	0.0:1.0:0.0:0.0	.	333;395	F5H3P5;P61158	.;ARP3_HUMAN	D	395;333;266;344	ENSP00000263238:H395D;ENSP00000445257:H333D;ENSP00000444987:H344D	ENSP00000263238:H395D	H	+	1	0	ACTR3	114431428	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.580000	0.82523	2.582000	0.87167	0.655000	0.94253	CAC		0.338	ACTR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331366.2	NM_005721		6	47	0	0	0	1	0	6	47					G	114714958	C	G	114714958	3	3	235	1	0	0	0	0	1	0	0	0	212	594	21	5	1229	5	ACTR3	2	114714958	Missense_Mutation	SNP	C	TCGA-HC-8262-01A-11D-2260-08	102963979	114714958	128484415	11	10919											
ERCC3	2071	broad.mit.edu	37	chr2	128050246	128050246	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgagcttcctgaggtactcGgtgatgtcactggtttgcag	6	13	13	9	1	1	3	1	3	0	0	3	3	2	3	1	3	3	4	1	3	1	3			TCGA-HC-8262-01A-11D-2260-08	TCGA-HC-8262-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e584de7a-84e8-4844-baec-3e5c0e6fbb9d	557d13df-5e0a-415f-847d-60d0b16f88c0	g.chr2:128050246G>A	ENST00000285398.2	-	3	505	c.411C>T	c.(409-411)acC>acT	p.T137T	ERCC3_ENST00000493187.2_Silent_p.T73T	NM_000122.1	NP_000113.1	P19447	ERCC3_HUMAN	excision repair cross-complementation group 3	137					7-methylguanosine mRNA capping (GO:0006370)|apoptotic process (GO:0006915)|DNA repair (GO:0006281)|DNA topological change (GO:0006265)|gene expression (GO:0010467)|hair cell differentiation (GO:0035315)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|nucleotide-excision repair, DNA duplex unwinding (GO:0000717)|nucleotide-excision repair, DNA incision (GO:0033683)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of viral transcription (GO:0050434)|protein localization (GO:0008104)|regulation of mitotic cell cycle phase transition (GO:1901990)|response to hypoxia (GO:0001666)|response to oxidative stress (GO:0006979)|response to UV (GO:0009411)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|UV protection (GO:0009650)|viral process (GO:0016032)	holo TFIIH complex (GO:0005675)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	3'-5' DNA helicase activity (GO:0043138)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|ATPase activity (GO:0016887)|damaged DNA binding (GO:0003684)|dATP binding (GO:0032564)|DNA binding (GO:0003677)|GTP binding (GO:0005525)|peptide binding (GO:0042277)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	31	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.073)		TGAGGTACTCGGTGATGTCAC	0.517			"Mis, S"			"skin basal cell, skin squamous cell, melanoma"		Nucleotide excision repair (NER)	Xeroderma Pigmentosum																													ENST00000493187.2			yes	Rec		Xeroderma pigmentosum (B)	2	2q21	2071	"Mis, S"	"excision repair cross-complementing rodent repair deficiency, complementation group 3 (xeroderma pigmentosum group B complementing)"			E		"skin basal cell, skin squamous cell, melanoma"			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	31						c.(217-219)acC>acT	Nucleotide excision repair (NER)	excision repair cross-complementing rodent repair deficiency, complementation group 3							109	98	102					2																	128050246		2203	4300	6503	SO:0001819	synonymous_variant	2071	Xeroderma Pigmentosum	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV	cell cycle checkpoint|DNA topological change|hair cell differentiation|induction of apoptosis|interspecies interaction between organisms|mRNA capping|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA duplex unwinding|nucleotide-excision repair, DNA incision|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein localization|response to oxidative stress|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	holo TFIIH complex	3'-5' DNA helicase activity|ATP binding|damaged DNA binding|protein C-terminus binding|protein N-terminus binding|transcription factor binding	g.chr2:128050246G>A	M31899	CCDS2144.1	2q21	2014-09-17	2014-03-07		ENSG00000163161	ENSG00000163161		"General transcription factors", "General transcription factor IIH complex subunits"	3435	protein-coding gene	gene with protein product	"xeroderma pigmentosum group B complementing"	133510	"excision repair cross-complementing rodent repair deficiency, complementation group 3"			8202161	Standard	NM_000122		Approved	XPB, BTF2, RAD25, TFIIH, GTF2H	uc002toh.1	P19447	OTTHUMG00000131530	ENST00000285398.2:c.411C>T	2.37:g.128050246G>A						ERCC3_ENST00000285398.2_Silent_p.T137T	p.T73T			P19447	ERCC3_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.073)	3	682	-	Colorectal(110;0.1)		137					Q53QM0	Silent	SNP	ENST00000285398.2	37	c.219C>T	CCDS2144.1																																																																																				0.517	ERCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331028.1	NM_000122		9	42	0	0	0	1	0	9	42					A	128050246	G	A	128050246	2	1	235	1	0	0	0	0	0	0	0	1	5214	1103	39	2		2	ERCC3	2	128050246	Silent	SNP	G	TCGA-HC-8262-01A-11D-2260-08	13335288	128050246	115149127	12	10920											
ANKRD28	23243	broad.mit.edu	37	chr3	15721039	15721039	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gttttctggaaaacttcctgTtctaaaagcagttctacaca	12	14	6	9	0	3	0	0	0	3	0	4	1	4	1	1	1	3	4	1	1	5	7			TCGA-HC-8262-01A-11D-2260-08	TCGA-HC-8262-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e584de7a-84e8-4844-baec-3e5c0e6fbb9d	557d13df-5e0a-415f-847d-60d0b16f88c0	g.chr3:15721039T>G	ENST00000399451.2	-	22	2698	c.2331A>C	c.(2329-2331)gaA>gaC	p.E777D	ANKRD28_ENST00000497037.1_5'UTR|ANKRD28_ENST00000383777.1_Missense_Mutation_p.E810D	NM_001195098.1|NM_001195099.1|NM_015199.3	NP_001182027.1|NP_001182028.1|NP_056014.2	O15084	ANR28_HUMAN	ankyrin repeat domain 28	777						nucleus (GO:0005634)				breast(2)|endometrium(1)|large_intestine(2)|prostate(1)	6						AAACTTCCTGTTCTAAAAGCA	0.368																																						ENST00000399451.2																			0				breast(2)|endometrium(1)|large_intestine(2)|prostate(1)	6						c.(2329-2331)gaA>gaC		ankyrin repeat domain 28							77	68	71					3																	15721039		1850	4101	5951	SO:0001583	missense	23243					nucleoplasm	protein binding	g.chr3:15721039T>G	AY367056	CCDS46769.1, CCDS74908.1	3p25.1	2013-01-10			ENSG00000206560	ENSG00000206560		"Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits", "Ankyrin repeat domain containing"	29024	protein-coding gene	gene with protein product	"phosphatase interactor targeting K protein", "protein phosphatase 6 ankyrin repeat subunit A", "protein phosphatase 1, regulatory subunit 65"	611122				9205841	Standard	NM_015199		Approved	KIAA0379, PITK, PP6-ARS-A, PPP1R65	uc003caj.1	O15084	OTTHUMG00000155379	ENST00000399451.2:c.2331A>C	3.37:g.15721039T>G	ENSP00000382379:p.Glu777Asp					ANKRD28_ENST00000383777.1_Missense_Mutation_p.E810D|ANKRD28_ENST00000497037.1_5'UTR	p.E777D	NM_001195098.1|NM_001195099.1|NM_015199.3	NP_001182027.1|NP_001182028.1|NP_056014.2	O15084	ANR28_HUMAN			22	2698	-			777					B4DES5|Q1WWL4|Q29RW6|Q3B857|Q6ULS0|Q6ZT57	Missense_Mutation	SNP	ENST00000399451.2	37	c.2331A>C	CCDS46769.1	.	.	.	.	.	.	.	.	.	.	T	15.59	2.879531	0.51801	.	.	ENSG00000206560	ENST00000399451;ENST00000383777;ENST00000412318	T;T;T	0.67523	-0.27;-0.27;-0.27	6.06	3.71	0.42584	Ankyrin repeat-containing domain (4);	0.000000	0.85682	D	0.000000	T	0.54854	0.1884	L	0.38531	1.155	0.58432	D	0.999995	B	0.26400	0.148	B	0.33690	0.168	T	0.39418	-0.9615	10	0.20519	T	0.43	.	8.4014	0.32588	0.0:0.2766:0.0:0.7234	.	777	O15084	ANR28_HUMAN	D	777;810;777	ENSP00000382379:E777D;ENSP00000373287:E810D;ENSP00000397341:E777D	ENSP00000373287:E810D	E	-	3	2	ANKRD28	15696043	0.998000	0.40836	1.000000	0.80357	0.999000	0.98932	0.514000	0.22786	0.549000	0.28973	0.533000	0.62120	GAA		0.368	ANKRD28-003	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000339758.1	NM_015199		2	13	0	0	0	1	0	2	13					G	15721039	T	G	15721039	3	3	235	1	0	0	0	0	1	0	0	0	656	1722	60	5	858	5	ANKRD28	3	15721039	Missense_Mutation	SNP	T	TCGA-HC-8262-01A-11D-2260-08		15721039	182301391	13	10921											
CTNNB1	1499	broad.mit.edu	37	chr3	41266097	41266097	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggcagcaacagtcttacctgGactctggaatccattctggt	9	11	10	11	0	3	0	0	0	3	0	4	2	4	2	2	4	3	2	2	4	3	2	rs28931588|rs121913416|rs121913417		TCGA-HC-8262-01A-11D-2260-08	TCGA-HC-8262-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e584de7a-84e8-4844-baec-3e5c0e6fbb9d	557d13df-5e0a-415f-847d-60d0b16f88c0	g.chr3:41266097G>T	ENST00000349496.5	+	3	374	c.94G>T	c.(94-96)Gac>Tac	p.D32Y	CTNNB1_ENST00000396185.3_Missense_Mutation_p.D32Y|CTNNB1_ENST00000396183.3_Missense_Mutation_p.D32Y|CTNNB1_ENST00000405570.1_Missense_Mutation_p.D32Y|CTNNB1_ENST00000453024.1_Missense_Mutation_p.D25Y	NM_001904.3	NP_001895.1	P35222	CTNB1_HUMAN	catenin (cadherin-associated protein), beta 1, 88kDa	32			D -> A (in hepatocellular carcinoma). {ECO:0000269|PubMed:10435629}.|D -> G (in PTR and hepatocellular carcinoma). {ECO:0000269|PubMed:10192393, ECO:0000269|PubMed:10435629}.|D -> Y (in PTR, hepatoblastoma and hepatocellular carcinoma; dbSNP:rs28931588). {ECO:0000269|PubMed:10192393, ECO:0000269|PubMed:10435629, ECO:0000269|PubMed:11703283, ECO:0000269|PubMed:9927029}.|Missing (in hepatocellular carcinoma). {ECO:0000269|PubMed:10435629}.		adherens junction assembly (GO:0034333)|androgen receptor signaling pathway (GO:0030521)|anterior/posterior axis specification (GO:0009948)|apoptotic process (GO:0006915)|bone resorption (GO:0045453)|branching involved in ureteric bud morphogenesis (GO:0001658)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|canonical Wnt signaling pathway involved in positive regulation of cardiac outflow tract cell proliferation (GO:0061324)|canonical Wnt signaling pathway involved in positive regulation of epithelial to mesenchymal transition (GO:0044334)|cell adhesion (GO:0007155)|cell fate specification (GO:0001708)|cell maturation (GO:0048469)|cell-matrix adhesion (GO:0007160)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to growth factor stimulus (GO:0071363)|cellular response to indole-3-methanol (GO:0071681)|cellular response to mechanical stimulus (GO:0071260)|central nervous system vasculogenesis (GO:0022009)|cytoskeletal anchoring at plasma membrane (GO:0007016)|determination of dorsal/ventral asymmetry (GO:0048262)|dorsal/ventral axis specification (GO:0009950)|ectoderm development (GO:0007398)|embryonic axis specification (GO:0000578)|embryonic digit morphogenesis (GO:0042733)|embryonic foregut morphogenesis (GO:0048617)|embryonic forelimb morphogenesis (GO:0035115)|embryonic heart tube development (GO:0035050)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal limb joint morphogenesis (GO:0036023)|endodermal cell fate commitment (GO:0001711)|endothelial tube morphogenesis (GO:0061154)|epithelial cell differentiation involved in prostate gland development (GO:0060742)|epithelial to mesenchymal transition (GO:0001837)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|fungiform papilla formation (GO:0061198)|gastrulation with mouth forming second (GO:0001702)|genitalia morphogenesis (GO:0035112)|glial cell fate determination (GO:0007403)|hair cell differentiation (GO:0035315)|hair follicle morphogenesis (GO:0031069)|hair follicle placode formation (GO:0060789)|hindbrain development (GO:0030902)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|layer formation in cerebral cortex (GO:0021819)|lens morphogenesis in camera-type eye (GO:0002089)|liver development (GO:0001889)|lung cell differentiation (GO:0060479)|lung induction (GO:0060492)|lung-associated mesenchyme development (GO:0060484)|male genitalia development (GO:0030539)|mesenchymal cell proliferation involved in lung development (GO:0060916)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|midgut development (GO:0007494)|muscle cell differentiation (GO:0042692)|myoblast differentiation (GO:0045445)|negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of heart induction by canonical Wnt signaling pathway (GO:0003136)|negative regulation of neuron death (GO:1901215)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein sumoylation (GO:0033234)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nephron tubule formation (GO:0072079)|neural plate development (GO:0001840)|neuron migration (GO:0001764)|odontogenesis of dentin-containing tooth (GO:0042475)|oocyte development (GO:0048599)|osteoclast differentiation (GO:0030316)|oviduct development (GO:0060066)|pancreas development (GO:0031016)|patterning of blood vessels (GO:0001569)|positive regulation of apoptotic process (GO:0043065)|positive regulation of branching involved in lung morphogenesis (GO:0061047)|positive regulation of determination of dorsal identity (GO:2000017)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of epithelial cell proliferation involved in prostate gland development (GO:0060769)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of fibroblast growth factor receptor signaling pathway (GO:0045743)|positive regulation of heparan sulfate proteoglycan biosynthetic process (GO:0010909)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein heterooligomerization (GO:0051291)|protein localization to cell surface (GO:0034394)|proximal/distal pattern formation (GO:0009954)|regulation of angiogenesis (GO:0045765)|regulation of calcium ion import (GO:0090279)|regulation of centriole-centriole cohesion (GO:0030997)|regulation of centromeric sister chromatid cohesion (GO:0070602)|regulation of fibroblast proliferation (GO:0048145)|regulation of myelination (GO:0031641)|regulation of nephron tubule epithelial cell differentiation (GO:0072182)|regulation of protein localization to cell surface (GO:2000008)|regulation of secondary heart field cardioblast proliferation (GO:0003266)|regulation of smooth muscle cell proliferation (GO:0048660)|regulation of T cell proliferation (GO:0042129)|renal inner medulla development (GO:0072053)|renal outer medulla development (GO:0072054)|renal vesicle formation (GO:0072033)|response to cadmium ion (GO:0046686)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|Schwann cell proliferation (GO:0014010)|single organismal cell-cell adhesion (GO:0016337)|smooth muscle cell differentiation (GO:0051145)|synapse organization (GO:0050808)|synaptic vesicle transport (GO:0048489)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tongue morphogenesis (GO:0043587)|trachea formation (GO:0060440)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	adherens junction (GO:0005912)|apical part of cell (GO:0045177)|basolateral plasma membrane (GO:0016323)|beta-catenin destruction complex (GO:0030877)|beta-catenin-TCF7L2 complex (GO:0070369)|catenin complex (GO:0016342)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cell periphery (GO:0071944)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|membrane (GO:0016020)|microvillus membrane (GO:0031528)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein-DNA complex (GO:0032993)|Scrib-APC-beta-catenin complex (GO:0034750)|synapse (GO:0045202)|tight junction (GO:0005923)|transcription factor complex (GO:0005667)|Z disc (GO:0030018)|zonula adherens (GO:0005915)	alpha-catenin binding (GO:0045294)|androgen receptor binding (GO:0050681)|cadherin binding (GO:0045296)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|estrogen receptor binding (GO:0030331)|I-SMAD binding (GO:0070411)|ion channel binding (GO:0044325)|kinase binding (GO:0019900)|nuclear hormone receptor binding (GO:0035257)|protein C-terminus binding (GO:0008022)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|R-SMAD binding (GO:0070412)|RNA polymerase II activating transcription factor binding (GO:0001102)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|SMAD binding (GO:0046332)|structural molecule activity (GO:0005198)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)	p.D32Y(128)|p.D32N(82)|p.A5_A80del(53)|p.D32H(40)|p.A5_Q143del(7)|p.A5_A80>D(7)|p.Q28_H134del(5)|p.WQQQSYLD25?(5)|p.W25_D32del(4)|p.?(4)|p.V22_G38del(3)|p.W25_I140del(3)|p.T3_A126del(2)|p.S23_S33del(2)|p.V22_S33del(2)|p.A5fs*7(2)|p.D32_S47del(2)|p.M5_N141>D(2)|p.L10_N141del(2)|p.A5_Y142>D(2)|p.Y30_S33del(2)|p.A5_Q143>E(1)|p.A13_R151del(1)|p.S29_H36del(1)|p.D32del(1)|p.M14_S45del(1)|p.Q28_D32>H(1)|p.Q28fs*20(1)|p.A20_N141del(1)|p.M1_A87del(1)|p.D11_Y142>H(1)|p.H24_G38del(1)|p.S23_I35del(1)|p.Y30_A97del(1)|p.W25_S33del(1)|p.V22_T102del(1)|p.A20_A80del(1)|p.V22_S71>A(1)|p.Q28_A43del(1)|p.A5_T59del(1)|p.A20_I35del(1)|p.M1_V173del(1)|p.E15_I140>V(1)|p.S23_A39del(1)|p.H24_M131del(1)|p.A21_A80del(1)|p.Y30_A80del(1)|p.A5_T40del(1)|p.A5_E54del(1)|p.W25_I35del(1)|p.M8_A80del(1)|p.P16_K133del(1)|p.V22_Y64del(1)|p.D32fs*9(1)|p.Q28_Q61del(1)|p.A20_S111del(1)|p.Y30_T40del(1)|p.A5_I35del(1)|p.D32_H36del(1)	CTNNB1/PLAG1(60)	NS(4)|adrenal_gland(103)|biliary_tract(43)|bone(21)|breast(7)|central_nervous_system(260)|cervix(9)|endometrium(293)|eye(1)|haematopoietic_and_lymphoid_tissue(60)|kidney(202)|large_intestine(269)|liver(1010)|lung(63)|oesophagus(6)|ovary(106)|pancreas(126)|parathyroid(11)|pituitary(111)|pleura(2)|prostate(31)|salivary_gland(13)|skin(103)|small_intestine(17)|soft_tissue(792)|stomach(165)|thyroid(55)|upper_aerodigestive_tract(2)|urinary_tract(8)	3893				KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294)		GTCTTACCTGGACTCTGGAAT	0.478	D32N(KE39_STOMACH)	15	"H, Mis, T"	PLAG1	"colorectal, cvarian,  hepatoblastoma, others, pleomorphic salivary adenoma"				Pilomatrixoma, Familial Clustering of																												Colon(6;3 56 14213 18255)	ENST00000349496.5	D32N(KE39_STOMACH)	15		Dom	yes		3	3p22-p21.3	1499	"H, Mis, T"	"catenin (cadherin-associated protein), beta 1"			"E, M, O"	PLAG1		"colorectal, cvarian,  hepatoblastoma, others, pleomorphic salivary adenoma"	CTNNB1/PLAG1(60)	397	Substitution - Missense(250)|Deletion - In frame(120)|Complex - deletion inframe(16)|Unknown(7)|Deletion - Frameshift(3)|Complex - frameshift(1)	p.D32Y(128)|p.D32N(82)|p.A5_A80del(53)|p.D32H(40)|p.A5_Q143del(7)|p.A5_A80>D(7)|p.Q28_H134del(5)|p.WQQQSYLD25?(5)|p.W25_D32del(4)|p.?(4)|p.V22_G38del(3)|p.W25_I140del(3)|p.T3_A126del(2)|p.S23_S33del(2)|p.V22_S33del(2)|p.A5fs*7(2)|p.D32_S47del(2)|p.M5_N141>D(2)|p.L10_N141del(2)|p.A5_Y142>D(2)|p.Y30_S33del(2)|p.A5_Q143>E(1)|p.A13_R151del(1)|p.S29_H36del(1)|p.D32del(1)|p.M14_S45del(1)|p.Q28_D32>H(1)|p.Q28fs*20(1)|p.A20_N141del(1)|p.M1_A87del(1)|p.D11_Y142>H(1)|p.H24_G38del(1)|p.S23_I35del(1)|p.Y30_A97del(1)|p.W25_S33del(1)|p.V22_T102del(1)|p.A20_A80del(1)|p.V22_S71>A(1)|p.Q28_A43del(1)|p.A5_T59del(1)|p.A20_I35del(1)|p.M1_V173del(1)|p.E15_I140>V(1)|p.S23_A39del(1)|p.H24_M131del(1)|p.A21_A80del(1)|p.Y30_A80del(1)|p.A5_T40del(1)|p.A5_E54del(1)|p.W25_I35del(1)|p.M8_A80del(1)|p.P16_K133del(1)|p.V22_Y64del(1)|p.D32fs*9(1)|p.Q28_Q61del(1)|p.A20_S111del(1)|p.Y30_T40del(1)|p.A5_I35del(1)|p.D32_H36del(1)	liver(155)|central_nervous_system(55)|endometrium(40)|stomach(36)|pancreas(28)|large_intestine(22)|pituitary(22)|skin(11)|ovary(9)|soft_tissue(4)|prostate(4)|small_intestine(2)|haematopoietic_and_lymphoid_tissue(2)|bone(2)|adrenal_gland(1)|biliary_tract(1)|urinary_tract(1)|lung(1)|NS(1)	NS(4)|adrenal_gland(103)|biliary_tract(43)|bone(21)|breast(7)|central_nervous_system(260)|cervix(9)|endometrium(293)|eye(1)|haematopoietic_and_lymphoid_tissue(60)|kidney(202)|large_intestine(269)|liver(1010)|lung(63)|oesophagus(6)|ovary(106)|pancreas(126)|parathyroid(11)|pituitary(111)|pleura(2)|prostate(31)|salivary_gland(13)|skin(103)|small_intestine(17)|soft_tissue(792)|stomach(165)|thyroid(55)|upper_aerodigestive_tract(2)|urinary_tract(8)	3893						c.(94-96)Gac>Tac		catenin (cadherin-associated protein), beta 1, 88kDa	Lithium(DB01356)						92	77	82					3																	41266097		2203	4300	6503	SO:0001583	missense	1499	Pilomatrixoma, Familial Clustering of	Familial Cancer Database	Pilomatricoma, Familial Clustering of, Epithelioma Calcificans of Malherbe	adherens junction assembly|androgen receptor signaling pathway|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway involved in negative regulation of apoptosis|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell-cell adhesion|cell-matrix adhesion|cellular component disassembly involved in apoptosis|cellular response to growth factor stimulus|cellular response to indole-3-methanol|central nervous system vasculogenesis|cytoskeletal anchoring at plasma membrane|determination of dorsal/ventral asymmetry|dorsal/ventral axis specification|ectoderm development|embryonic axis specification|embryonic foregut morphogenesis|embryonic leg joint morphogenesis|endodermal cell fate commitment|endothelial tube morphogenesis|epithelial to mesenchymal transition|gastrulation with mouth forming second|glial cell fate determination|hair follicle morphogenesis|hair follicle placode formation|hindbrain development|liver development|lung cell differentiation|lung induction|lung-associated mesenchyme development|male genitalia development|mesenchymal cell proliferation involved in lung development|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of osteoclast differentiation|negative regulation of transcription from RNA polymerase II promoter|nephron tubule formation|odontogenesis of dentine-containing tooth|oocyte development|pancreas development|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of branching involved in lung morphogenesis|positive regulation of epithelial cell proliferation involved in prostate gland development|positive regulation of fibroblast growth factor receptor signaling pathway|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of muscle cell differentiation|positive regulation of osteoblast differentiation|positive regulation of transcription from RNA polymerase II promoter|protein localization at cell surface|proximal/distal pattern formation|regulation of angiogenesis|regulation of calcium ion import|regulation of centriole-centriole cohesion|regulation of centromeric sister chromatid cohesion|regulation of fibroblast proliferation|regulation of nephron tubule epithelial cell differentiation|regulation of protein localization at cell surface|regulation of smooth muscle cell proliferation|regulation of T cell proliferation|renal inner medulla development|renal outer medulla development|renal vesicle formation|response to drug|response to estradiol stimulus|Schwann cell proliferation|smooth muscle cell differentiation|synapse organization|synaptic vesicle transport|T cell differentiation in thymus|thymus development|trachea formation	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin-TCF7L2 complex|catenin complex|cell cortex|cell-substrate adherens junction|centrosome|dendritic shaft|desmosome|fascia adherens|internal side of plasma membrane|lamellipodium|lateral plasma membrane|microvillus membrane|perinuclear region of cytoplasm|protein-DNA complex|synapse|transcription factor complex|Z disc|zonula adherens	alpha-catenin binding|androgen receptor binding|cadherin binding|estrogen receptor binding|I-SMAD binding|ion channel binding|protein binding|protein C-terminus binding|protein kinase binding|protein phosphatase binding|R-SMAD binding|RPTP-like protein binding|signal transducer activity|specific RNA polymerase II transcription factor activity|structural molecule activity|transcription coactivator activity|transcription regulatory region DNA binding	g.chr3:41266097G>T	X87838	CCDS2694.1	3p21	2013-02-15	2002-08-29		ENSG00000168036	ENSG00000168036		"Armadillo repeat containing"	2514	protein-coding gene	gene with protein product		116806	"catenin (cadherin-associated protein), beta 1 (88kD)"	CTNNB		7829088	Standard	NM_001098210		Approved	beta-catenin, armadillo	uc003ckr.2	P35222	OTTHUMG00000131393	ENST00000349496.5:c.94G>T	3.37:g.41266097G>T	ENSP00000344456:p.Asp32Tyr					CTNNB1_ENST00000405570.1_Missense_Mutation_p.D32Y|CTNNB1_ENST00000396185.3_Missense_Mutation_p.D32Y|CTNNB1_ENST00000453024.1_Missense_Mutation_p.D25Y|CTNNB1_ENST00000396183.3_Missense_Mutation_p.D32Y	p.D32Y	NM_001904.3	NP_001895.1	P35222	CTNB1_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294)	3	374	+			32		D -> A (in hepatocellular carcinoma).|D -> G (in PTR and hepatocellular carcinoma).|D -> Y (in PTR, hepatoblastoma and hepatocellular carcinoma; dbSNP:rs28931588).|Missing (in hepatocellular carcinoma).			A8K1L7|Q8NEW9|Q8NI94|Q9H391	Missense_Mutation	SNP	ENST00000349496.5	37	c.94G>T	CCDS2694.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.337485	0.81911	.	.	ENSG00000168036	ENST00000426215;ENST00000405570;ENST00000431914;ENST00000396183;ENST00000349496;ENST00000453024;ENST00000396185;ENST00000450969;ENST00000441708	T;T;T;T;T;T;T;T;T	0.44482	0.92;0.92;0.92;0.92;0.92;0.92;0.92;0.92;0.92	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	T	0.68210	0.2976	M	0.79614	2.46	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	T	0.70498	-0.4855	10	0.87932	D	0	0.3843	19.9596	0.97236	0.0:0.0:1.0:0.0	rs28931588	32	P35222	CTNB1_HUMAN	Y	25;32;32;32;32;25;32;32;32	ENSP00000400508:D25Y;ENSP00000385604:D32Y;ENSP00000412219:D32Y;ENSP00000379486:D32Y;ENSP00000344456:D32Y;ENSP00000411226:D25Y;ENSP00000379488:D32Y;ENSP00000409302:D32Y;ENSP00000401599:D32Y	ENSP00000344456:D32Y	D	+	1	0	CTNNB1	41241101	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.869000	0.99810	2.726000	0.93360	0.655000	0.94253	GAC		0.478	CTNNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254182.2	NM_001098210		5	28	1	0	0.184627	1	0.187303	5	28					T	41266097	G	T	41266097	3	4	235	1	0	0	0	0	1	0	0	0	4016	1174	41	5	100	5	CTNNB1	3	41266097	Missense_Mutation	SNP	G	TCGA-HC-8262-01A-11D-2260-08	25545058	41266097	156756333	14	10922											
TMIE	259236	broad.mit.edu	37	chr3	46747349	46747349	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cagtggtgttctgggacatgCgcctgtggcacgtggtgggc	4	10	18	9	2	1	0	0	0	1	0	1	1	1	1	1	5	1	2	1	5	0	1			TCGA-HC-8262-01A-11D-2260-08	TCGA-HC-8262-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e584de7a-84e8-4844-baec-3e5c0e6fbb9d	557d13df-5e0a-415f-847d-60d0b16f88c0	g.chr3:46747349C>T	ENST00000326431.3	+	2	318	c.163C>T	c.(163-165)Cgc>Tgc	p.R55C		NM_147196.2	NP_671729.2	Q8NEW7	TMIE_HUMAN	transmembrane inner ear	55					inner ear morphogenesis (GO:0042472)|sensory perception of sound (GO:0007605)	integral component of membrane (GO:0016021)				endometrium(1)|lung(1)|skin(1)	3				BRCA - Breast invasive adenocarcinoma(193;0.000688)|KIRC - Kidney renal clear cell carcinoma(197;0.0177)|Kidney(197;0.0208)		CTGGGACATGCGCCTGTGGCA	0.607											OREG0015540	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000326431.3																			0				endometrium(1)|lung(1)|skin(1)	3						c.(163-165)Cgc>Tgc		transmembrane inner ear							154	170	165					3																	46747349		2188	4280	6468	SO:0001583	missense	259236					integral to membrane		g.chr3:46747349C>T	AY081842	CCDS43081.1	3p21	2010-01-06	2004-05-19		ENSG00000181585	ENSG00000181585			30800	protein-coding gene	gene with protein product		607237	"deafness, autosomal recessive 6"	DFNB6		12140191, 12145746	Standard	NM_147196		Approved		uc010hjk.1	Q8NEW7	OTTHUMG00000149909	ENST00000326431.3:c.163C>T	3.37:g.46747349C>T	ENSP00000324775:p.Arg55Cys		OREG0015540	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	941		p.R55C	NM_147196.2	NP_671729.2	Q8NEW7	TMIE_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000688)|KIRC - Kidney renal clear cell carcinoma(197;0.0177)|Kidney(197;0.0208)	2	318	+			55					A0AV93|A8K0R0	Missense_Mutation	SNP	ENST00000326431.3	37	c.163C>T	CCDS43081.1	.	.	.	.	.	.	.	.	.	.	C	26.2	4.710174	0.89018	.	.	ENSG00000181585	ENST00000326431	D	0.91792	-2.91	5.2	4.26	0.50523	.	0.000000	0.85682	D	0.000000	D	0.94647	0.8274	M	0.64997	1.995	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.94590	0.7787	10	0.87932	D	0	-20.0382	12.545	0.56195	0.1671:0.8329:0.0:0.0	.	55	Q8NEW7	TMIE_HUMAN	C	55	ENSP00000324775:R55C	ENSP00000324775:R55C	R	+	1	0	TMIE	46722353	1.000000	0.71417	1.000000	0.80357	1.000000	0.99986	3.578000	0.53892	2.570000	0.86706	0.655000	0.94253	CGC		0.607	TMIE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313853.1	NM_147196		31	91	0	0	0	1	0	31	91					T	46747349	C	T	46747349	3	4	235	1	0	0	0	0	1	0	0	0	16226	768	27	1	169	1	TMIE	3	46747349	Missense_Mutation	SNP	C	TCGA-HC-8262-01A-11D-2260-08	5481252	46747349	151275081	15	10923											
COL7A1	1294	broad.mit.edu	37	chr3	48628922	48628922	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gtgctgcgcacaatgatgcgGtactgggtggcaccagggac	8	7	16	10	2	0	1	0	1	0	0	0	2	0	2	1	4	4	4	1	4	2	1			TCGA-HC-8262-01A-11D-2260-08	TCGA-HC-8262-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e584de7a-84e8-4844-baec-3e5c0e6fbb9d	557d13df-5e0a-415f-847d-60d0b16f88c0	g.chr3:48628922G>A	ENST00000328333.8	-	12	1718	c.1611C>T	c.(1609-1611)taC>taT	p.Y537Y	COL7A1_ENST00000454817.1_Silent_p.Y537Y	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	537	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.|Nonhelical region (NC1).				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|collagen type VII trimer (GO:0005590)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	serine-type endopeptidase inhibitor activity (GO:0004867)			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		CAATGATGCGGTACTGGGTGG	0.652																																						ENST00000328333.8																			0				NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137						c.(1609-1611)taC>taT		collagen, type VII, alpha 1							62	67	65					3																	48628922		2203	4300	6503	SO:0001819	synonymous_variant	1294				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity	g.chr3:48628922G>A	L02870	CCDS2773.1	3p21.1	2014-09-17	2008-08-01		ENSG00000114270	ENSG00000114270		"Collagens", "Fibronectin type III domain containing"	2214	protein-coding gene	gene with protein product	"collagen VII, alpha-1 polypeptide", "LC collagen"	120120	"epidermolysis bullosa, dystrophic, dominant and recessive"	EBDCT, EBD1, EBR1		1871109	Standard	NM_000094		Approved		uc003ctz.2	Q02388	OTTHUMG00000133541	ENST00000328333.8:c.1611C>T	3.37:g.48628922G>A						COL7A1_ENST00000454817.1_Silent_p.Y537Y	p.Y537Y	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)	12	1718	-			537			Fibronectin type-III 4.|Nonhelical region (NC1).		Q14054|Q16507	Silent	SNP	ENST00000328333.8	37	c.1611C>T	CCDS2773.1																																																																																				0.652	COL7A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257519.1	NM_000094		3	94	0	0	0	1	0	3	94					A	48628922	G	A	48628922	2	1	235	1	0	0	0	0	0	0	0	1	3704	1256	44	3		3	COL7A1	3	48628922	Silent	SNP	G	TCGA-HC-8262-01A-11D-2260-08	1881573	48628922	149393508	16	10924											
PARP14	54625	broad.mit.edu	37	chr3	122447397	122447397	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	caagtttatttgtggcatttTatgactaccaagcataccca	12	14	6	9	0	0	1	0	1	0	0	0	1	0	1	2	1	3	3	2	1	6	7			TCGA-HC-8262-01A-11D-2260-08	TCGA-HC-8262-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e584de7a-84e8-4844-baec-3e5c0e6fbb9d	557d13df-5e0a-415f-847d-60d0b16f88c0	g.chr3:122447397T>G	ENST00000474629.2	+	17	5625	c.5359T>G	c.(5359-5361)Tat>Gat	p.Y1787D		NM_017554.2	NP_060024.2	Q460N5	PAR14_HUMAN	poly (ADP-ribose) polymerase family, member 14	1787	PARP catalytic. {ECO:0000255|PROSITE- ProRule:PRU00397}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	NAD+ ADP-ribosyltransferase activity (GO:0003950)			NS(2)|breast(5)|cervix(2)|endometrium(7)|kidney(5)|large_intestine(8)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	50				GBM - Glioblastoma multiforme(114;0.0531)		TGTGGCATTTTATGACTACCA	0.363																																						ENST00000474629.2																			0				NS(2)|breast(5)|cervix(2)|endometrium(7)|kidney(5)|large_intestine(8)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	50						c.(5359-5361)Tat>Gat		poly (ADP-ribose) polymerase family, member 14							161	156	158					3																	122447397		1890	4118	6008	SO:0001583	missense	54625				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	NAD+ ADP-ribosyltransferase activity	g.chr3:122447397T>G	AB033094	CCDS46894.1	3q21	2010-02-16			ENSG00000173193	ENSG00000173193		"Poly (ADP-ribose) polymerases"	29232	protein-coding gene	gene with protein product		610028				15273990	Standard	NM_017554		Approved	KIAA1268, pART8	uc003efq.4	Q460N5	OTTHUMG00000159552	ENST00000474629.2:c.5359T>G	3.37:g.122447397T>G	ENSP00000418194:p.Tyr1787Asp						p.Y1787D	NM_017554.2	NP_060024.2	Q460N5	PAR14_HUMAN		GBM - Glioblastoma multiforme(114;0.0531)	17	5625	+			1787			PARP catalytic.		B4E2H0|Q460N4|Q8J027|Q9H9X9|Q9NV60|Q9ULF2	Missense_Mutation	SNP	ENST00000474629.2	37	c.5359T>G	CCDS46894.1	.	.	.	.	.	.	.	.	.	.	T	14.71	2.615845	0.46631	.	.	ENSG00000173193	ENST00000474629;ENST00000398162;ENST00000398157	T	0.10288	2.89	6.01	4.79	0.61399	Poly(ADP-ribose) polymerase, catalytic domain (2);	0.211286	0.30547	N	0.009383	T	0.16214	0.0390	N	0.25957	0.775	0.32955	D	0.520259	D	0.67145	0.996	D	0.64595	0.927	T	0.07751	-1.0756	10	0.38643	T	0.18	.	8.9168	0.35587	0.2866:0.0:0.0:0.7134	.	1787	Q460N5	PAR14_HUMAN	D	1787;1706;783	ENSP00000418194:Y1787D	ENSP00000381224:Y783D	Y	+	1	0	PARP14	123930087	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	0.901000	0.28445	2.299000	0.77371	0.533000	0.62120	TAT		0.363	PARP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356173.2	NM_017554		28	77	0	0	0	1	0	28	77					G	122447397	T	G	122447397	3	3	235	1	0	0	0	0	1	0	0	0	11458	1754	61	5	5425	5	PARP14	3	122447397	Missense_Mutation	SNP	T	TCGA-HC-8262-01A-11D-2260-08	73818475	122447397	75575033	17	10925											
ATP13A3	79572	broad.mit.edu	37	chr3	194169231	194169231	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gagttctccagtgtagaaacGagtctgaataacagttgtcc	12	11	10	8	1	2	2	0	1	2	1	4	4	3	2	2	0	2	3	2	0	4	4			TCGA-HC-8262-01A-11D-2260-08	TCGA-HC-8262-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e584de7a-84e8-4844-baec-3e5c0e6fbb9d	557d13df-5e0a-415f-847d-60d0b16f88c0	g.chr3:194169231G>A	ENST00000439040.1	-	12	1896	c.1105C>T	c.(1105-1107)Cgt>Tgt	p.R369C	ATP13A3_ENST00000256031.4_Missense_Mutation_p.R369C			Q9H7F0	AT133_HUMAN	ATPase type 13A3	369						integral component of membrane (GO:0016021)|membrane (GO:0016020)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)			NS(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	24	all_cancers(143;6.01e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	OV - Ovarian serous cystadenocarcinoma(49;3.83e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;5.98e-05)		GTGTAGAAACGAGTCTGAATA	0.348																																						ENST00000439040.1																			0				NS(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	24						c.(1105-1107)Cgt>Tgt		ATPase type 13A3							158	143	148					3																	194169231		1865	4101	5966	SO:0001583	missense	79572				ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding	g.chr3:194169231G>A	AJ306929	CCDS43187.1	3q29	2010-04-20			ENSG00000133657	ENSG00000133657		"ATPases / P-type"	24113	protein-coding gene	gene with protein product	"ATPase family homolog up regulated in senescence cells"	610232				11867234	Standard	NM_024524		Approved	AFURS1	uc003fty.4	Q9H7F0	OTTHUMG00000156034	ENST00000439040.1:c.1105C>T	3.37:g.194169231G>A	ENSP00000416508:p.Arg369Cys					ATP13A3_ENST00000256031.4_Missense_Mutation_p.R369C	p.R369C			Q9H7F0	AT133_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;3.83e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;5.98e-05)	12	1896	-	all_cancers(143;6.01e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	369					Q8NC11|Q96KS1	Missense_Mutation	SNP	ENST00000439040.1	37	c.1105C>T	CCDS43187.1	.	.	.	.	.	.	.	.	.	.	G	25.8	4.673417	0.88445	.	.	ENSG00000133657	ENST00000439040;ENST00000256031;ENST00000310773	D;D	0.91351	-2.83;-2.83	5.55	5.55	0.83447	ATPase, P-type, ATPase-associated domain (1);ATPase,  P-type, cytoplasmic transduction domain A (1);	0.000000	0.85682	D	0.000000	D	0.96528	0.8867	H	0.94542	3.55	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97208	0.9869	10	0.72032	D	0.01	-3.6682	14.4133	0.67132	0.0:0.0:0.8524:0.1476	.	369	Q9H7F0	AT133_HUMAN	C	369;369;107	ENSP00000416508:R369C;ENSP00000256031:R369C	ENSP00000256031:R369C	R	-	1	0	ATP13A3	195650520	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.995000	0.93534	2.597000	0.87782	0.650000	0.86243	CGT		0.348	ATP13A3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342799.2	NM_024524		12	86	0	0	0	1	0	12	86					A	194169231	G	A	194169231	3	1	235	1	0	0	0	0	1	0	0	0	1125	1058	37	2	2663	2	ATP13A3	3	194169231	Missense_Mutation	SNP	G	TCGA-HC-8262-01A-11D-2260-08	71721834	194169231	3853199	18	10926											
HGFAC	3083	broad.mit.edu	37	chr4	3443797	3443797	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	ggccccttcctcctcctcctCctgctgctgctgctgctgcc	0	12	8	21	0	0	0	0	0	0	0	5	0	5	0	8	1	6	5	8	1	0	1	rs538844201	byFrequency	TCGA-HC-8262-01A-11D-2260-08	TCGA-HC-8262-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e584de7a-84e8-4844-baec-3e5c0e6fbb9d	557d13df-5e0a-415f-847d-60d0b16f88c0	g.chr4:3443797C>G	ENST00000382774.3	+	1	184	c.69C>G	c.(67-69)ctC>ctG	p.L23L	HGFAC_ENST00000511533.1_Silent_p.L23L	NM_001528.2	NP_001519.1	Q04756	HGFA_HUMAN	HGF activator	23					proteolysis (GO:0006508)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|rough endoplasmic reticulum (GO:0005791)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			central_nervous_system(3)|cervix(1)|endometrium(4)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	22				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)		TCCTCCTCCTCCTGCTGCTGC	0.716													C|||	2	0.000399361	8e-04	0	5008	,	,		13350	0		0	False		,,,				2504	0.001					ENST00000382774.3																			0				central_nervous_system(3)|cervix(1)|endometrium(4)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	22						c.(67-69)ctC>ctG		HGF activator							13	16	15					4																	3443797		1723	3604	5327	SO:0001819	synonymous_variant	3083				proteolysis	extracellular space	protein binding|serine-type endopeptidase activity	g.chr4:3443797C>G	D14012	CCDS3369.1, CCDS75098.1	4p16	2008-02-07			ENSG00000109758	ENSG00000109758	3.4.21.-		4894	protein-coding gene	gene with protein product		604552				7683665, 8226803	Standard	XM_005247966		Approved	HGFAP, HGFA	uc003ghc.3	Q04756	OTTHUMG00000090281	ENST00000382774.3:c.69C>G	4.37:g.3443797C>G						HGFAC_ENST00000511533.1_Silent_p.L23L	p.L23L	NM_001528.2	NP_001519.1	Q04756	HGFA_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.163)	1	184	+			23					Q14726|Q2M1W7|Q53X47	Silent	SNP	ENST00000382774.3	37	c.69C>G	CCDS3369.1																																																																																				0.716	HGFAC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206607.3			2	12	0	0	0	1	0	2	12					G	3443797	C	G	3443797	2	3	235	1	0	0	0	0	0	0	0	1	7086	842	30	5		5	HGFAC	4	3443797	Silent	SNP	C	TCGA-HC-8262-01A-11D-2260-08		3443797	187710479	19	10927											
PCDH18	54510	broad.mit.edu	37	chr4	138442613	138442613	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggtatccccagtgtcctcaTcgtttggggagtcctttcca	5	14	10	12	1	1	0	1	0	0	0	6	1	5	1	5	3	0	2	5	3	1	3			TCGA-HC-8262-01A-11D-2260-08	TCGA-HC-8262-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e584de7a-84e8-4844-baec-3e5c0e6fbb9d	557d13df-5e0a-415f-847d-60d0b16f88c0	g.chr4:138442613T>A	ENST00000344876.4	-	4	3364	c.2978A>T	c.(2977-2979)gAt>gTt	p.D993V	PCDH18_ENST00000412923.2_Missense_Mutation_p.D992V|PCDH18_ENST00000507846.1_Missense_Mutation_p.D772V|PCDH18_ENST00000511115.1_Missense_Mutation_p.D173V|PCDH18_ENST00000510305.1_Missense_Mutation_p.D204V	NM_019035.3	NP_061908.1	Q9HCL0	PCD18_HUMAN	protocadherin 18	993	Interaction with DAB1. {ECO:0000250}.				brain development (GO:0007420)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					AGTGTCCTCATCGTTTGGGGA	0.512																																						ENST00000344876.4																			0				NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86						c.(2977-2979)gAt>gTt		protocadherin 18							87	77	80					4																	138442613		2203	4300	6503	SO:0001583	missense	54510				brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:138442613T>A	AL137471	CCDS34064.1, CCDS75193.1	4q28.3	2010-01-26			ENSG00000189184	ENSG00000189184		"Cadherins / Protocadherins : Non-clustered"	14268	protein-coding gene	gene with protein product		608287				10835267, 11549318	Standard	XM_005263070		Approved	KIAA1562, PCDH68L	uc003ihe.4	Q9HCL0	OTTHUMG00000161348	ENST00000344876.4:c.2978A>T	4.37:g.138442613T>A	ENSP00000355082:p.Asp993Val					PCDH18_ENST00000412923.2_Missense_Mutation_p.D992V|PCDH18_ENST00000510305.1_Missense_Mutation_p.D204V|PCDH18_ENST00000507846.1_Missense_Mutation_p.D772V|PCDH18_ENST00000511115.1_Missense_Mutation_p.D173V	p.D993V	NM_019035.3	NP_061908.1	Q9HCL0	PCD18_HUMAN			4	3364	-	all_hematologic(180;0.24)		993			Interaction with DAB1 (By similarity).		A8K7K3|B7ZKT1|Q52LS2	Missense_Mutation	SNP	ENST00000344876.4	37	c.2978A>T	CCDS34064.1	.	.	.	.	.	.	.	.	.	.	T	10.10	1.257399	0.22965	.	.	ENSG00000189184	ENST00000344876;ENST00000412923;ENST00000507846;ENST00000510305;ENST00000511115	T;T;T;T;T	0.55413	0.61;0.61;0.52;1.44;1.43	4.97	4.97	0.65823	.	0.497313	0.16345	N	0.218472	T	0.49167	0.1541	L	0.40543	1.245	0.80722	D	1	B;B;B;B	0.31548	0.328;0.011;0.019;0.011	B;B;B;B	0.35607	0.206;0.01;0.041;0.018	T	0.51301	-0.8723	10	0.56958	D	0.05	.	14.6737	0.68964	0.0:0.0:0.0:1.0	.	173;772;992;993	B4DLR6;D6RIG4;Q9HCL0-2;Q9HCL0	.;.;.;PCD18_HUMAN	V	993;992;772;204;173	ENSP00000355082:D993V;ENSP00000390688:D992V;ENSP00000425903:D772V;ENSP00000424269:D204V;ENSP00000425647:D173V	ENSP00000355082:D993V	D	-	2	0	PCDH18	138662063	0.999000	0.42202	0.006000	0.13384	0.182000	0.23217	6.355000	0.73041	1.873000	0.54277	0.533000	0.62120	GAT		0.512	PCDH18-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364614.1	NM_019035		17	48	0	0	0	1	0	17	48					A	138442613	T	A	138442613	3	1	235	1	0	0	0	0	1	0	0	0	11513	1435	50	5	433	5	PCDH18	4	138442613	Missense_Mutation	SNP	T	TCGA-HC-8262-01A-11D-2260-08	134998816	138442613	52711663	20	10928											
ANKH	56172	broad.mit.edu	37	chr5	14711384	14711384	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tctgtcatggcagagtcttcCccctccgtggccgactcatt	5	12	9	15	2	4	1	2	0	2	1	6	2	6	1	4	2	0	1	4	2	0	2			TCGA-HC-8262-01A-11D-2260-08	TCGA-HC-8262-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e584de7a-84e8-4844-baec-3e5c0e6fbb9d	557d13df-5e0a-415f-847d-60d0b16f88c0	g.chr5:14711384C>T	ENST00000284268.6	-	12	1731	c.1401G>A	c.(1399-1401)ggG>ggA	p.G467G	ANKH_ENST00000535119.1_Silent_p.G269G	NM_054027.4	NP_473368.1	Q9HCJ1	ANKH_HUMAN	ANKH inorganic pyrophosphate transport regulator	467					locomotory behavior (GO:0007626)|regulation of bone mineralization (GO:0030500)|skeletal system development (GO:0001501)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|outer membrane (GO:0019867)|plasma membrane (GO:0005886)	inorganic diphosphate transmembrane transporter activity (GO:0030504)|inorganic phosphate transmembrane transporter activity (GO:0005315)|phosphate ion transmembrane transporter activity (GO:0015114)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	29						CAGAGTCTTCCCCCTCCGTGG	0.542																																						ENST00000284268.6																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	29						c.(1399-1401)ggG>ggA		ANKH inorganic pyrophosphate transport regulator							251	223	233					5																	14711384		2203	4300	6503	SO:0001819	synonymous_variant	56172				locomotory behavior|regulation of bone mineralization|skeletal system development	integral to plasma membrane|outer membrane	inorganic diphosphate transmembrane transporter activity|inorganic phosphate transmembrane transporter activity	g.chr5:14711384C>T	AF274753	CCDS3885.1	5p15.2	2013-06-19	2013-06-19		ENSG00000154122	ENSG00000154122			15492	protein-coding gene	gene with protein product		605145	"ankylosis, progressive (mouse) homolog", "craniometaphyseal dysplasia, Jackson type (dominant)", "ankylosis, progressive homolog (mouse)"	CCAL2, CMDJ		10894769, 12297989, 11326338	Standard	NM_054027		Approved	HANK, ANK, CPPDD	uc003jfm.4	Q9HCJ1	OTTHUMG00000090539	ENST00000284268.6:c.1401G>A	5.37:g.14711384C>T						ANKH_ENST00000535119.1_Silent_p.G269G	p.G467G	NM_054027.4	NP_473368.1	Q9HCJ1	ANKH_HUMAN			12	1731	-			467					B2RCA7|B3KMG4|D3DTD4|Q9NQW2	Silent	SNP	ENST00000284268.6	37	c.1401G>A	CCDS3885.1																																																																																				0.542	ANKH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207063.1	NM_054027		44	133	0	0	0	1	0	44	133					T	14711384	C	T	14711384	2	4	235	1	0	0	0	0	0	0	0	1	627	610	22	3		3	ANKH	5	14711384	Silent	SNP	C	TCGA-HC-8262-01A-11D-2260-08		14711384	166203876	21	10929											
PLA2G7	7941	broad.mit.edu	37	chr6	46684800	46684800	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tagtttggccaaagcttgcaGcagccatcagtacttgtatt	10	13	9	9	0	1	0	1	0	0	0	1	0	1	0	2	1	5	6	2	1	4	7			TCGA-HC-8262-01A-11D-2260-08	TCGA-HC-8262-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e584de7a-84e8-4844-baec-3e5c0e6fbb9d	557d13df-5e0a-415f-847d-60d0b16f88c0	g.chr6:46684800G>A	ENST00000274793.7	-	3	339	c.143C>T	c.(142-144)gCt>gTt	p.A48V	PLA2G7_ENST00000537365.1_Missense_Mutation_p.A48V|PLA2G7_ENST00000541026.1_Intron|PLA2G7_ENST00000538237.1_Missense_Mutation_p.A3V	NM_005084.3	NP_005075.3	Q13093	PAFA_HUMAN	phospholipase A2, group VII (platelet-activating factor acetylhydrolase, plasma)	48					cellular protein metabolic process (GO:0044267)|lipid catabolic process (GO:0016042)|lipid oxidation (GO:0034440)|low-density lipoprotein particle remodeling (GO:0034374)|plasma lipoprotein particle oxidation (GO:0034441)|positive regulation of inflammatory response (GO:0050729)|positive regulation of monocyte chemotaxis (GO:0090026)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|low-density lipoprotein particle (GO:0034362)	1-alkyl-2-acetylglycerophosphocholine esterase activity (GO:0003847)|calcium-independent phospholipase A2 activity (GO:0047499)|phospholipid binding (GO:0005543)			endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|skin(1)|soft_tissue(1)	14			Lung(136;0.192)			AAAGCTTGCAGCAGCCATCAG	0.368																																						ENST00000274793.7																			0				endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|skin(1)|soft_tissue(1)	14						c.(142-144)gCt>gTt		phospholipase A2, group VII (platelet-activating factor acetylhydrolase, plasma)							126	121	123					6																	46684800		2203	4300	6503	SO:0001583	missense	7941				inflammatory response|lipid catabolic process	extracellular space	1-alkyl-2-acetylglycerophosphocholine esterase activity|phospholipid binding	g.chr6:46684800G>A	U20157	CCDS4917.1	6p21.2-p12	2008-09-19			ENSG00000146070	ENSG00000146070	3.1.1.4		9040	protein-coding gene	gene with protein product		601690				7700381, 8624782	Standard	NM_005084		Approved	PAFAH, LDL-PLA2	uc021zae.1	Q13093	OTTHUMG00000014789	ENST00000274793.7:c.143C>T	6.37:g.46684800G>A	ENSP00000274793:p.Ala48Val					PLA2G7_ENST00000538237.1_Missense_Mutation_p.A3V|PLA2G7_ENST00000537365.1_Missense_Mutation_p.A48V|PLA2G7_ENST00000541026.1_Intron	p.A48V	NM_005084.3	NP_005075.3	Q13093	PAFA_HUMAN	Lung(136;0.192)		3	339	-			48					A5HTT5|Q15692|Q5VTT1|Q8IVA2	Missense_Mutation	SNP	ENST00000274793.7	37	c.143C>T	CCDS4917.1	.	.	.	.	.	.	.	.	.	.	G	14.88	2.668089	0.47677	.	.	ENSG00000146070	ENST00000274793;ENST00000537365;ENST00000538237	T;T;T	0.46063	0.88;0.88;1.9	6.03	6.03	0.97812	.	0.323851	0.37261	N	0.002174	T	0.22859	0.0552	L	0.53249	1.67	0.80722	D	1	P;P;P	0.39352	0.617;0.669;0.669	B;B;B	0.33960	0.173;0.123;0.123	T	0.03969	-1.0988	10	0.15499	T	0.54	.	16.0754	0.80965	0.0:0.0:1.0:0.0	.	3;48;48	F5GYY6;A8K2W6;Q13093	.;.;PAFA_HUMAN	V	48;48;3	ENSP00000274793:A48V;ENSP00000445666:A48V;ENSP00000441416:A3V	ENSP00000274793:A48V	A	-	2	0	PLA2G7	46792759	0.002000	0.14202	0.444000	0.26895	0.211000	0.24417	0.799000	0.27028	2.868000	0.98415	0.557000	0.71058	GCT		0.368	PLA2G7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040802.1			3	92	0	0	0	1	0	3	92					A	46684800	G	A	46684800	3	1	235	1	0	0	0	0	1	0	0	0	12009	971	34	3	1222	3	PLA2G7	6	46684800	Missense_Mutation	SNP	G	TCGA-HC-8262-01A-11D-2260-08		46684800	124430267	22	10930											
BEND3	57673	broad.mit.edu	37	chr6	107390917	107390917	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cgtagcagtcatcacgcgggGggtcgccttcactgcccgcg	5	7	14	15	6	3	0	3	0	0	0	4	0	3	0	2	3	2	2	2	3	1	2			TCGA-HC-8262-01A-11D-2260-08	TCGA-HC-8262-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e584de7a-84e8-4844-baec-3e5c0e6fbb9d	557d13df-5e0a-415f-847d-60d0b16f88c0	g.chr6:107390917G>A	ENST00000369042.1	-	4	1668	c.1478C>T	c.(1477-1479)cCc>cTc	p.P493L	BEND3_ENST00000429433.2_Missense_Mutation_p.P493L			Q5T5X7	BEND3_HUMAN	BEN domain containing 3	493										central_nervous_system(1)|cervix(2)|endometrium(3)|large_intestine(7)|lung(10)|ovary(4)|prostate(3)	30						ATCACGCGGGGGGTCGCCTTC	0.682																																						ENST00000429433.2																			0				central_nervous_system(1)|cervix(2)|endometrium(3)|large_intestine(7)|lung(10)|ovary(4)|prostate(3)	30						c.(1477-1479)cCc>cTc		BEN domain containing 3							30	27	28					6																	107390917		2201	4299	6500	SO:0001583	missense	57673							g.chr6:107390917G>A	AB046773	CCDS34507.1	6q21	2012-11-22	2008-10-03	2008-10-03	ENSG00000178409	ENSG00000178409		"BEN domain containing"	23040	protein-coding gene	gene with protein product			"KIAA1553"	KIAA1553			Standard	NM_001080450		Approved		uc003prs.2	Q5T5X7	OTTHUMG00000015308	ENST00000369042.1:c.1478C>T	6.37:g.107390917G>A	ENSP00000358038:p.Pro493Leu					BEND3_ENST00000369042.1_Missense_Mutation_p.P493L	p.P493L	NM_001080450.2	NP_001073919.1	Q5T5X7	BEND3_HUMAN			5	2127	-			493					A2RRH2|Q9HCL9	Missense_Mutation	SNP	ENST00000369042.1	37	c.1478C>T	CCDS34507.1	.	.	.	.	.	.	.	.	.	.	G	1.505	-0.551069	0.03996	.	.	ENSG00000178409	ENST00000369042;ENST00000429433	.	.	.	5.06	3.2	0.36748	.	0.774897	0.12477	N	0.465527	T	0.10380	0.0254	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.21484	-1.0244	9	0.41790	T	0.15	-4.6987	7.6546	0.28369	0.0858:0.0:0.5957:0.3186	.	493	Q5T5X7	BEND3_HUMAN	L	493	.	ENSP00000358038:P493L	P	-	2	0	BEND3	107497610	0.880000	0.30214	0.007000	0.13788	0.092000	0.18411	2.762000	0.47597	1.363000	0.46019	0.561000	0.74099	CCC		0.682	BEND3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041686.1	NM_020913		12	18	0	0	0	1	0	12	18					A	107390917	G	A	107390917	3	1	235	1	0	0	0	0	1	0	0	0	1399	1232	43	3	1012	3	BEND3	6	107390917	Missense_Mutation	SNP	G	TCGA-HC-8262-01A-11D-2260-08	60706117	107390917	63724150	23	10931											
PCLO	27445	broad.mit.edu	37	chr7	82579685	82579685	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tctctttttgggttgtttttCctctttcacaacaacatctg	6	20	5	10	0	4	0	1	0	3	0	6	0	5	0	1	1	2	2	1	1	2	6			TCGA-HC-8262-01A-11D-2260-08	TCGA-HC-8262-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e584de7a-84e8-4844-baec-3e5c0e6fbb9d	557d13df-5e0a-415f-847d-60d0b16f88c0	g.chr7:82579685C>T	ENST00000333891.9	-	6	10556	c.10219G>A	c.(10219-10221)Gaa>Aaa	p.E3407K	PCLO_ENST00000423517.2_Missense_Mutation_p.E3407K|PCLO_ENST00000437081.1_Missense_Mutation_p.E127K	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein											breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						GGTTGTTTTTCCTCTTTCACA	0.418																																						ENST00000423517.2																			0				breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						c.(10219-10221)Gaa>Aaa		piccolo presynaptic cytomatrix protein							100	95	96					7																	82579685		1893	4111	6004	SO:0001583	missense	27445				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	g.chr7:82579685C>T	AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"aczonin"	604918	"piccolo (presynaptic cytomatrix protein)"			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.10219G>A	7.37:g.82579685C>T	ENSP00000334319:p.Glu3407Lys					PCLO_ENST00000437081.1_Missense_Mutation_p.E127K|PCLO_ENST00000333891.8_Missense_Mutation_p.E3407K	p.E3407K	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN			6	10556	-			3338						Missense_Mutation	SNP	ENST00000333891.9	37	c.10219G>A	CCDS47630.1	.	.	.	.	.	.	.	.	.	.	C	14.40	2.525308	0.44969	.	.	ENSG00000186472	ENST00000431819;ENST00000333891;ENST00000423517;ENST00000437081	T;T;T	0.35421	2.34;2.34;1.31	5.95	5.95	0.96441	.	.	.	.	.	T	0.50205	0.1602	L	0.50333	1.59	0.54753	D	0.999982	P;D;D	0.55385	0.455;0.971;0.971	B;P;P	0.53401	0.142;0.725;0.725	T	0.46679	-0.9174	9	0.87932	D	0	.	20.3854	0.98941	0.0:1.0:0.0:0.0	.	3338;3407;3407	Q9Y6V0;Q9Y6V0-5;Q9Y6V0-6	PCLO_HUMAN;.;.	K	3338;3407;3407;127	ENSP00000334319:E3407K;ENSP00000388393:E3407K;ENSP00000393760:E127K	ENSP00000334319:E3407K	E	-	1	0	PCLO	82417621	1.000000	0.71417	0.985000	0.45067	0.827000	0.46813	5.029000	0.64121	2.825000	0.97269	0.655000	0.94253	GAA		0.418	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510		9	47	0	0	0	1	0	9	47					T	82579685	C	T	82579685	3	4	235	1	0	0	0	0	1	0	0	0	11583	864	30	3	5306	3	PCLO	7	82579685	Missense_Mutation	SNP	C	TCGA-HC-8262-01A-11D-2260-08		82579685	76558978	24	10932											
MTUS1	57509	broad.mit.edu	37	chr8	17611561	17611561	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agttgtaacatgcacagcctGgctagtaatgagtttattaa	13	13	9	6	0	0	1	0	1	0	0	0	1	0	1	1	1	3	6	1	1	5	7			TCGA-HC-8262-01A-11D-2260-08	TCGA-HC-8262-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e584de7a-84e8-4844-baec-3e5c0e6fbb9d	557d13df-5e0a-415f-847d-60d0b16f88c0	g.chr8:17611561G>A	ENST00000262102.6	-	2	1980	c.1756C>T	c.(1756-1758)Cag>Tag	p.Q586*	MTUS1_ENST00000381869.3_Nonsense_Mutation_p.Q586*|MTUS1_ENST00000519263.1_Nonsense_Mutation_p.Q586*|MTUS1_ENST00000381862.3_Nonsense_Mutation_p.Q586*	NM_001001924.2	NP_001001924.1	Q9ULD2	MTUS1_HUMAN	microtubule associated tumor suppressor 1	586					cellular response to peptide hormone stimulus (GO:0071375)|regulation of macrophage chemotaxis (GO:0010758)	extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(14)|lung(8)|ovary(1)|skin(2)|urinary_tract(1)	36				Colorectal(111;0.0778)		TGCACAGCCTGGCTAGTAATG	0.398																																						ENST00000381869.3																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(14)|lung(8)|ovary(1)|skin(2)|urinary_tract(1)	36						c.(1756-1758)Cag>Tag		microtubule associated tumor suppressor 1							241	219	226					8																	17611561		1884	4109	5993	SO:0001587	stop_gained	57509					Golgi apparatus|microtubule|microtubule organizing center|mitochondrion|nucleus|plasma membrane|spindle		g.chr8:17611561G>A	AL096842	CCDS43716.1, CCDS43717.1, CCDS43718.1, CCDS43719.1, CCDS55204.1	8p22	2013-01-17	2009-10-20		ENSG00000129422	ENSG00000129422			29789	protein-coding gene	gene with protein product	"AT2 receptor-interacting protein", "AT2R binding protein", "mitochondrial tumor suppressor gene 1"	609589	"mitochondrial tumor suppressor 1"			10574462, 12692079	Standard	NM_001001931		Approved	MTSG1, KIAA1288, DKFZp586D1519, FLJ14295, ATIP1, MP44, ATBP, ICIS	uc003wxv.3	Q9ULD2	OTTHUMG00000163756	ENST00000262102.6:c.1756C>T	8.37:g.17611561G>A	ENSP00000262102:p.Gln586*					MTUS1_ENST00000381862.3_Nonsense_Mutation_p.Q586*|MTUS1_ENST00000519263.1_Nonsense_Mutation_p.Q586*|MTUS1_ENST00000262102.6_Nonsense_Mutation_p.Q586*	p.Q586*	NM_001001925.2	NP_001001925.1	Q9ULD2	MTUS1_HUMAN		Colorectal(111;0.0778)	2	2229	-			586					A8K135|B2RBJ6|B3KWJ9|B4DH03|B9EGA1|D3DSP8|Q63HJ6|Q659F4|Q6PK49|Q6URW7|Q8N4M6|Q8WTT9|Q9H7T2	Nonsense_Mutation	SNP	ENST00000262102.6	37	c.1756C>T	CCDS43717.1	.	.	.	.	.	.	.	.	.	.	G	43	10.447850	0.99407	.	.	ENSG00000129422	ENST00000381869;ENST00000262102;ENST00000519263;ENST00000381862	.	.	.	4.95	4.95	0.65309	.	0.230909	0.29529	N	0.011884	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.36615	T	0.2	-14.7751	18.3502	0.90336	0.0:0.0:1.0:0.0	.	.	.	.	X	586	.	ENSP00000262102:Q586X	Q	-	1	0	MTUS1	17655841	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	4.719000	0.61937	2.741000	0.93983	0.650000	0.86243	CAG		0.398	MTUS1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000375247.1	XM_372031		8	118	0	0	0	1	0	8	118					A	17611561	G	A	17611561	4	1	235	1	0	0	0	0	0	1	0	0	9965	1357	47	3	2431	3	MTUS1	8	17611561	Nonsense_Mutation	SNP	G	TCGA-HC-8262-01A-11D-2260-08		17611561	128752461	25	10933											
ZNF782	158431	broad.mit.edu	37	chr9	99581089	99581089	+	Nonsense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgttttcttaggcgtgactTctcactgaaggctttcccgc	6	15	9	11	2	2	2	1	2	2	0	4	2	3	2	1	2	0	2	1	2	2	5			TCGA-HC-8262-01A-11D-2260-08	TCGA-HC-8262-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e584de7a-84e8-4844-baec-3e5c0e6fbb9d	557d13df-5e0a-415f-847d-60d0b16f88c0	g.chr9:99581089T>A	ENST00000481138.1	-	6	1877	c.1216A>T	c.(1216-1218)Aag>Tag	p.K406*	ZNF782_ENST00000466833.1_5'Flank|ZNF782_ENST00000535338.1_Nonsense_Mutation_p.K274*	NM_001001662.1	NP_001001662.1	Q6ZMW2	ZN782_HUMAN	zinc finger protein 782	406					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(8)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)	33		Acute lymphoblastic leukemia(62;0.0527)				AGGCGTGACTTCTCACTGAAG	0.443																																						ENST00000481138.1																			0				NS(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(8)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)	33						c.(1216-1218)Aag>Tag		zinc finger protein 782							124	120	121					9																	99581089		2203	4300	6503	SO:0001587	stop_gained	158431				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:99581089T>A	AK131468	CCDS35075.1	9q22.33	2013-01-08			ENSG00000196597	ENSG00000196597		"Zinc fingers, C2H2-type", "-"	33110	protein-coding gene	gene with protein product							Standard	NM_001001662		Approved	FLJ16636	uc004awp.1	Q6ZMW2	OTTHUMG00000020310	ENST00000481138.1:c.1216A>T	9.37:g.99581089T>A	ENSP00000419397:p.Lys406*					ZNF782_ENST00000535338.1_Nonsense_Mutation_p.K274*	p.K406*	NM_001001662.1	NP_001001662.1	Q6ZMW2	ZN782_HUMAN			6	1877	-		Acute lymphoblastic leukemia(62;0.0527)	406					B2RNR0	Nonsense_Mutation	SNP	ENST00000481138.1	37	c.1216A>T	CCDS35075.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	17.83|17.83	3.486005|3.486005	0.63962|0.63962	.|.	.|.	ENSG00000196597|ENSG00000196597	ENST00000289032|ENST00000481138;ENST00000535338	T|.	0.06768|.	3.26|.	3.33|3.33	3.33|3.33	0.38152|0.38152	.|.	.|0.000000	.|0.35207	.|N	.|0.003362	T|.	0.55401|.	0.1918|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.52697|.	-0.8541|.	6|.	0.38643|.	T|.	0.18|.	.|.	6.7893|6.7893	0.23692|0.23692	0.0:0.0:0.2405:0.7595|0.0:0.0:0.2405:0.7595	.|.	.|.	.|.	.|.	V|X	394|406;274	ENSP00000418686:E394V|.	ENSP00000418686:E394V|.	E|K	-|-	2|1	0|0	ZNF782|ZNF782	98620910|98620910	0.000000|0.000000	0.05858|0.05858	0.962000|0.962000	0.40283|0.40283	0.852000|0.852000	0.48524|0.48524	-0.052000|-0.052000	0.11865|0.11865	1.750000|1.750000	0.51863|0.51863	0.533000|0.533000	0.62120|0.62120	GAA|AAG		0.443	ZNF782-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356810.1	NM_001001662		4	81	0	0	0	1	0	4	81					A	99581089	T	A	99581089	4	1	235	1	0	0	0	0	0	1	0	0	18152	1792	62	5	887	5	ZNF782	9	99581089	Nonsense_Mutation	SNP	T	TCGA-HC-8262-01A-11D-2260-08		99581089	41632342	26	10934											
COL27A1	85301	broad.mit.edu	37	chr9	117071687	117071687	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaagcaggccgtacgcttcCgggcctggaatggacagatt	9	7	13	12	3	0	1	0	0	0	1	1	3	1	3	4	4	2	3	4	4	3	3			TCGA-HC-8262-01A-11D-2260-08	TCGA-HC-8262-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e584de7a-84e8-4844-baec-3e5c0e6fbb9d	557d13df-5e0a-415f-847d-60d0b16f88c0	g.chr9:117071687C>T	ENST00000356083.3	+	60	5756	c.5365C>T	c.(5365-5367)Cgg>Tgg	p.R1789W		NM_032888.2	NP_116277.2	Q8IZC6	CORA1_HUMAN	collagen, type XXVII, alpha 1	1789	Fibrillar collagen NC1. {ECO:0000255|PROSITE-ProRule:PRU00793}.				extracellular matrix organization (GO:0030198)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|fibrillar collagen trimer (GO:0005583)	extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)			central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						CGTACGCTTCCGGGCCTGGAA	0.607																																						ENST00000356083.3																			0				central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						c.(5365-5367)Cgg>Tgg		collagen, type XXVII, alpha 1							73	73	73					9																	117071687		2203	4300	6503	SO:0001583	missense	85301				cell adhesion		extracellular matrix structural constituent	g.chr9:117071687C>T	AB058773	CCDS6802.1	9q33.1	2013-01-16			ENSG00000196739	ENSG00000196739		"Collagens"	22986	protein-coding gene	gene with protein product		608461				12766169	Standard	NM_032888		Approved	KIAA1870, MGC11337, FLJ11895	uc011lxl.2	Q8IZC6	OTTHUMG00000020537	ENST00000356083.3:c.5365C>T	9.37:g.117071687C>T	ENSP00000348385:p.Arg1789Trp						p.R1789W	NM_032888.2	NP_116277.2	Q8IZC6	CORA1_HUMAN			60	5756	+			1789			Fibrillar collagen NC1.		Q66K43|Q96JF7	Missense_Mutation	SNP	ENST00000356083.3	37	c.5365C>T	CCDS6802.1	.	.	.	.	.	.	.	.	.	.	C	18.74	3.689504	0.68271	.	.	ENSG00000196739	ENST00000356083;ENST00000357257	T	0.74315	-0.83	6.06	6.06	0.98353	Fibrillar collagen, C-terminal (4);	.	.	.	.	D	0.84451	0.5475	M	0.71036	2.16	0.36410	D	0.863663	D;D	0.89917	1.0;1.0	D;D	0.78314	0.989;0.991	D	0.87541	0.2459	9	0.62326	D	0.03	.	12.9848	0.58586	0.1613:0.8387:0.0:0.0	.	104;1789	Q9HAA3;Q8IZC6	.;CORA1_HUMAN	W	1789;1796	ENSP00000348385:R1789W	ENSP00000348385:R1789W	R	+	1	2	COL27A1	116111508	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.627000	0.54252	2.882000	0.98803	0.655000	0.94253	CGG		0.607	COL27A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053763.1	NM_032888		19	83	0	0	0	1	0	19	83					T	117071687	C	T	117071687	3	4	235	1	0	0	0	0	1	0	0	0	3685	643	23	2	5603	2	COL27A1	9	117071687	Missense_Mutation	SNP	C	TCGA-HC-8262-01A-11D-2260-08	17490598	117071687	24141744	27	10935											
STXBP1	6812	broad.mit.edu	37	chr9	130438178	130438178	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgccaatgtcagcacttaTgacaaaatccgcatcatcct	13	10	6	12	1	2	1	2	1	0	0	4	2	4	1	3	0	2	2	3	0	4	1			TCGA-HC-8262-01A-11D-2260-08	TCGA-HC-8262-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e584de7a-84e8-4844-baec-3e5c0e6fbb9d	557d13df-5e0a-415f-847d-60d0b16f88c0	g.chr9:130438178T>C	ENST00000373299.1	+	14	1321	c.1206T>C	c.(1204-1206)taT>taC	p.Y402Y	STXBP1_ENST00000373302.3_Silent_p.Y402Y|STXBP1_ENST00000481942.1_3'UTR	NM_001032221.3	NP_001027392.1	P61764	STXB1_HUMAN	syntaxin binding protein 1	402					axon target recognition (GO:0007412)|energy reserve metabolic process (GO:0006112)|glutamate secretion (GO:0014047)|long term synaptic depression (GO:0060292)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic transmission, GABAergic (GO:0032229)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter secretion (GO:0007269)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of calcium ion-dependent exocytosis (GO:0045956)|protein stabilization (GO:0050821)|protein transport (GO:0015031)|regulation of insulin secretion (GO:0050796)|regulation of SNARE complex assembly (GO:0035542)|regulation of synaptic vesicle fusion to presynaptic membrane (GO:0031630)|regulation of synaptic vesicle priming (GO:0010807)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|synaptic vesicle maturation (GO:0016188)|vesicle docking involved in exocytosis (GO:0006904)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|platelet alpha granule (GO:0031091)|protein complex (GO:0043234)	identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|SNARE binding (GO:0000149)|syntaxin binding (GO:0019905)|syntaxin-1 binding (GO:0017075)			breast(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(7)|skin(2)	23						TCAGCACTTATGACAAAATCC	0.512																																						ENST00000373302.3																			0				breast(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(7)|skin(2)	23						c.(1204-1206)taT>taC		syntaxin binding protein 1							157	113	128					9																	130438178		2203	4300	6503	SO:0001819	synonymous_variant	6812				axon target recognition|energy reserve metabolic process|glutamate secretion|negative regulation of synaptic transmission, GABAergic|neurotransmitter secretion|platelet aggregation|platelet degranulation|protein transport|regulation of insulin secretion|regulation of synaptic vesicle priming|synaptic vesicle maturation|vesicle docking involved in exocytosis	cytosol|mitochondrion|plasma membrane|platelet alpha granule|protein complex	identical protein binding|syntaxin-1 binding|syntaxin-2 binding	g.chr9:130438178T>C	AF004563	CCDS6874.1, CCDS35146.1	9q34.1	2008-07-21			ENSG00000136854	ENSG00000136854			11444	protein-coding gene	gene with protein product	"syntaxin-binding protein 1"	602926				9545644	Standard	NM_001032221		Approved	hUNC18, MUNC18-1, UNC18, rbSec1	uc004brk.2	P61764	OTTHUMG00000020713	ENST00000373299.1:c.1206T>C	9.37:g.130438178T>C						STXBP1_ENST00000373299.1_Silent_p.Y402Y|STXBP1_ENST00000481942.1_3'UTR	p.Y402Y	NM_003165.3	NP_003156.1	P61764	STXB1_HUMAN			14	1345	+			402					B1AM97|Q28208|Q62759|Q64320|Q96TG8	Silent	SNP	ENST00000373299.1	37	c.1206T>C	CCDS35146.1																																																																																				0.512	STXBP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054229.1	NM_003165		3	28	0	0	0	1	0	3	28					C	130438178	T	C	130438178	2	2	235	1	0	0	0	0	0	0	0	1	15351	1471	51	4		4	STXBP1	9	130438178	Silent	SNP	T	TCGA-HC-8262-01A-11D-2260-08	13366491	130438178	10775253	28	10936											
DDX31	64794	broad.mit.edu	37	chr9	135517391	135517391	+	Splice_Site	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaacacaggaggatacgtacCgtgcaaagaaggacgcctct	14	5	12	10	3	1	1	0	0	1	1	1	5	1	4	2	3	4	2	2	3	5	2			TCGA-HC-8262-01A-11D-2260-08	TCGA-HC-8262-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e584de7a-84e8-4844-baec-3e5c0e6fbb9d	557d13df-5e0a-415f-847d-60d0b16f88c0	g.chr9:135517391C>A	ENST00000372159.3	-	14	1906	c.1755G>T	c.(1753-1755)acG>acT	p.T585T	DDX31_ENST00000438527.3_Splice_Site_p.T456T|DDX31_ENST00000310532.2_Splice_Site_p.T585T|DDX31_ENST00000372153.1_Splice_Site_p.T585T	NM_022779.7	NP_073616.6	Q9H8H2	DDX31_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 31	585	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.					nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(1)	27				OV - Ovarian serous cystadenocarcinoma(145;2.67e-06)|Epithelial(140;7.61e-05)		GGATACGTACCGTGCAAAGAA	0.438																																						ENST00000372159.3																			0				breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(1)	27						c.e14+1		DEAD (Asp-Glu-Ala-Asp) box polypeptide 31							140	109	120					9																	135517391		2203	4300	6503	SO:0001630	splice_region_variant	64794					nucleolus	ATP binding|ATP-dependent helicase activity|RNA binding	g.chr9:135517391C>A	AF427339	CCDS6951.1, CCDS6952.1	9q34.2	2012-04-17	2003-06-13		ENSG00000125485	ENSG00000125485		"DEAD-boxes", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	16715	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 25"		"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 31"				Standard	NM_022779		Approved	FLJ13633, FLJ23349, FLJ14578, PPP1R25	uc004cbq.1	Q9H8H2	OTTHUMG00000020843	ENST00000372159.3:c.1755+1G>T	9.37:g.135517391C>A						DDX31_ENST00000438527.3_Splice_Site_p.T456_splice|DDX31_ENST00000372153.1_Splice_Site_p.T585_splice|DDX31_ENST00000310532.2_Splice_Site_p.T585_splice	p.T585_splice	NM_022779.7	NP_073616.6	Q9H8H2	DDX31_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;2.67e-06)|Epithelial(140;7.61e-05)	14	1906	-			585			Helicase C-terminal.		Q5K6N2|Q5K6N3|Q5K6N4|Q5VZJ4|Q5VZJ9|Q96E91|Q96NY2|Q96SX5|Q9H5K6	Splice_Site	SNP	ENST00000372159.3	37	c.1755_splice	CCDS6951.1																																																																																				0.438	DDX31-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000054794.1	NM_138620	Silent	6	26	1	0	3.59834e-05	1	3.93568e-05	6	26					A	135517391	C	A	135517391	5	1	235	1	0	0	0	0	0	0	1	0	4356	666	23	5	835	5	DDX31	9	135517391	Splice_Site	SNP	C	TCGA-HC-8262-01A-11D-2260-08	5079213	135517391	5696040	29	10937											
ANAPC2	29882	broad.mit.edu	37	chr9	140070252	140070252	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctccacgtccatggtcaccAggcccagggtgtgcttccaa	7	8	11	15	1	1	0	1	0	0	0	4	0	4	0	5	3	1	2	5	3	1	1			TCGA-HC-8262-01A-11D-2260-08	TCGA-HC-8262-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e584de7a-84e8-4844-baec-3e5c0e6fbb9d	557d13df-5e0a-415f-847d-60d0b16f88c0	g.chr9:140070252A>G	ENST00000323927.2	-	11	1932	c.1928T>C	c.(1927-1929)cTg>cCg	p.L643P	ANAPC2_ENST00000487917.1_5'UTR	NM_013366.3	NP_037498.1	Q9UJX6	ANC2_HUMAN	anaphase promoting complex subunit 2	643					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of axon extension (GO:0045773)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic plasticity (GO:0031915)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)				breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	15	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.000858)		CATGGTCACCAGGCCCAGGGT	0.662																																						ENST00000323927.2																			0				breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	15						c.(1927-1929)cTg>cCg		anaphase promoting complex subunit 2							61	46	51					9																	140070252		2196	4297	6493	SO:0001583	missense	29882				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|cyclin catabolic process|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of synapse maturation|positive regulation of synaptic plasticity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination|regulation of cyclin-dependent protein kinase activity	anaphase-promoting complex|cytosol|nucleoplasm	ubiquitin protein ligase binding|ubiquitin-protein ligase activity	g.chr9:140070252A>G	AB037827	CCDS7033.1	9q34.3	2011-06-15			ENSG00000176248	ENSG00000176248		"Anaphase promoting complex subunits"	19989	protein-coding gene	gene with protein product		606946				11739784	Standard	NM_013366		Approved	APC2, KIAA1406	uc004clr.1	Q9UJX6	OTTHUMG00000020983	ENST00000323927.2:c.1928T>C	9.37:g.140070252A>G	ENSP00000314004:p.Leu643Pro					ANAPC2_ENST00000487917.1_5'UTR	p.L643P	NM_013366.3	NP_037498.1	Q9UJX6	ANC2_HUMAN	STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.000858)	11	1932	-	all_cancers(76;0.0926)		643					Q5VSG1|Q96DG5|Q96GG4|Q9P2E1	Missense_Mutation	SNP	ENST00000323927.2	37	c.1928T>C	CCDS7033.1	.	.	.	.	.	.	.	.	.	.	A	18.34	3.602755	0.66445	.	.	ENSG00000176248	ENST00000323927	T	0.74421	-0.84	4.43	4.43	0.53597	Cullin, N-terminal (1);Cullin homology (3);	0.078453	0.53938	D	0.000048	T	0.81740	0.4886	M	0.62723	1.935	0.80722	D	1	D;D	0.69078	0.997;0.996	D;D	0.68621	0.959;0.931	T	0.80690	-0.1270	10	0.36615	T	0.2	-13.8808	11.6676	0.51383	1.0:0.0:0.0:0.0	.	643;640	Q9UJX6;Q9UJX6-2	ANC2_HUMAN;.	P	643	ENSP00000314004:L643P	ENSP00000314004:L643P	L	-	2	0	ANAPC2	139190073	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	6.170000	0.71920	1.864000	0.54056	0.374000	0.22700	CTG		0.662	ANAPC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055315.1	NM_013366		2	11	0	0	0	1	0	2	11					G	140070252	A	G	140070252	3	3	235	1	0	0	0	0	1	0	0	0	603	188	7	4	552	4	ANAPC2	9	140070252	Missense_Mutation	SNP	A	TCGA-HC-8262-01A-11D-2260-08	4552861	140070252	1143179	30	10938											
MMRN2	79812	broad.mit.edu	37	chr10	88702336	88702336	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgctgagtggcgaagagtgcGttgtggaggccgtgaaggga	8	7	20	6	4	0	3	0	2	0	1	0	6	0	5	1	4	1	2	1	4	2	1			TCGA-HC-8262-01A-11D-2260-08	TCGA-HC-8262-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e584de7a-84e8-4844-baec-3e5c0e6fbb9d	557d13df-5e0a-415f-847d-60d0b16f88c0	g.chr10:88702336G>A	ENST00000372027.5	-	6	2526	c.2205C>T	c.(2203-2205)aaC>aaT	p.N735N	MMRN2_ENST00000488950.1_5'Flank	NM_024756.2	NP_079032.2	Q9H8L6	MMRN2_HUMAN	multimerin 2	735					angiogenesis (GO:0001525)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030948)	basement membrane (GO:0005604)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				breast(1)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|skin(1)|stomach(1)	19						CGAAGAGTGCGTTGTGGAGGC	0.657																																						ENST00000372027.4																			0				breast(1)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|skin(1)|stomach(1)	19						c.(2203-2205)aaC>aaT		multimerin 2							49	48	48					10																	88702336		2203	4300	6503	SO:0001819	synonymous_variant	79812					extracellular space		g.chr10:88702336G>A	AK023527	CCDS7379.1	10q23.31	2004-03-10	2004-03-02	2004-03-02	ENSG00000173269	ENSG00000173269		"EMI domain containing"	19888	protein-coding gene	gene with protein product		608925	"elastin microfibril interfacer 3"	EMILIN3		11559704	Standard	NM_024756		Approved	EndoGlyx-1, FLJ13465	uc001kea.3	Q9H8L6	OTTHUMG00000018663	ENST00000372027.5:c.2205C>T	10.37:g.88702336G>A							p.N735N	NM_024756.2	NP_079032.2	Q9H8L6	MMRN2_HUMAN			6	2278	-			735					Q504V7|Q6P2N2	Silent	SNP	ENST00000372027.5	37	c.2205C>T	CCDS7379.1																																																																																				0.657	MMRN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049179.2	NM_024756		3	33	0	0	0	1	0	3	33					A	88702336	G	A	88702336	2	1	235	1	0	0	0	0	0	0	0	1	9671	1136	40	1		1	MMRN2	10	88702336	Silent	SNP	G	TCGA-HC-8262-01A-11D-2260-08		88702336	46832411	31	10939											
ABLIM1	3983	broad.mit.edu	37	chr10	116361630	116361630	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaaatgtttggtctggaccCgaagcacttcacccttgcaa	10	10	10	11	1	2	0	1	0	1	0	2	3	2	2	2	3	2	3	2	3	3	3	rs145417841	byFrequency	TCGA-HC-8262-01A-11D-2260-08	TCGA-HC-8262-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e584de7a-84e8-4844-baec-3e5c0e6fbb9d	557d13df-5e0a-415f-847d-60d0b16f88c0	g.chr10:116361630C>T	ENST00000277895.5	-	2	432	c.335G>A	c.(334-336)cGg>cAg	p.R112Q	ABLIM1_ENST00000477638.1_5'UTR|ABLIM1_ENST00000533213.2_Missense_Mutation_p.R52Q|ABLIM1_ENST00000369252.4_Missense_Mutation_p.R52Q	NM_002313.5	NP_002304.3	O14639	ABLM1_HUMAN	actin binding LIM protein 1	112	LIM zinc-binding 1. {ECO:0000255|PROSITE- ProRule:PRU00125}.				axon guidance (GO:0007411)|cilium assembly (GO:0042384)|cytoskeleton organization (GO:0007010)|lamellipodium assembly (GO:0030032)|organ morphogenesis (GO:0009887)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|visual perception (GO:0007601)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|lamellipodium (GO:0030027)|stress fiber (GO:0001725)	actin binding (GO:0003779)|zinc ion binding (GO:0008270)			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	30		Colorectal(252;0.0373)|Breast(234;0.231)		Epithelial(162;0.0132)|all cancers(201;0.0383)		GGTCTGGACCCGAAGCACTTC	0.547																																						ENST00000369252.4																			0				breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	30						c.(154-156)cGg>cAg		actin binding LIM protein 1		C	GLN/ARG,GLN/ARG,GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	145	126	132		155,155,335	5.4	1	10	dbSNP_134	132	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	ABLIM1	NM_001003407.1,NM_001003408.1,NM_002313.5	43,43,43	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	probably-damaging,probably-damaging,probably-damaging	52/719,52/747,112/779	116361630	2,13004	2203	4300	6503	SO:0001583	missense	3983				axon guidance|cytoskeleton organization|organ morphogenesis|visual perception	actin cytoskeleton|cytoplasm	actin binding|zinc ion binding	g.chr10:116361630C>T	AF005654	CCDS7590.1, CCDS31289.1	10q25	2008-07-07		2002-09-13	ENSG00000099204	ENSG00000099204			78	protein-coding gene	gene with protein product		602330		LIMAB1, ABLIM		9245787	Standard	NM_002313		Approved	abLIM, limatin	uc021pyw.1	O14639	OTTHUMG00000019088	ENST00000277895.5:c.335G>A	10.37:g.116361630C>T	ENSP00000277895:p.Arg112Gln					ABLIM1_ENST00000477638.1_5'UTR|ABLIM1_ENST00000533213.2_Missense_Mutation_p.R52Q|ABLIM1_ENST00000277895.5_Missense_Mutation_p.R112Q	p.R52Q	NM_001003407.1|NM_001003408.1	NP_001003407.1|NP_001003408.1	O14639	ABLM1_HUMAN		Epithelial(162;0.0132)|all cancers(201;0.0383)	2	456	-		Colorectal(252;0.0373)|Breast(234;0.231)	112					A6NI16|A6NJ06|A8MXA9|B3KVH2|Q15039|Q5JVV1|Q5JVV2|Q5T6N2|Q5T6N3|Q5T6N5|Q68CQ9|Q9BUP1	Missense_Mutation	SNP	ENST00000277895.5	37	c.155G>A	CCDS7590.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	36|36	5.626160|5.626160	0.96671|0.96671	2.27E-4|2.27E-4	1.16E-4|1.16E-4	ENSG00000099204|ENSG00000099204	ENST00000392955|ENST00000336585;ENST00000369252;ENST00000369267;ENST00000533213;ENST00000369262;ENST00000369263;ENST00000369256;ENST00000369260;ENST00000277895	.|D;D;D	.|0.87491	.|-2.26;-2.26;-2.26	5.45|5.45	5.45|5.45	0.79879|0.79879	.|Zinc finger, LIM-type (5);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.92993|0.92993	0.7770|0.7770	M|M	0.65975|0.65975	2.015|2.015	0.80722|0.80722	D|D	1|1	.|D;D;D;D;D;D	.|0.89917	.|1.0;0.996;1.0;1.0;0.999;1.0	.|D;D;D;D;D;D	.|0.78314	.|0.987;0.98;0.99;0.991;0.98;0.99	D|D	0.93428|0.93428	0.6783|0.6783	5|10	.|0.87932	.|D	.|0	.|.	19.2779|19.2779	0.94039|0.94039	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|36;52;52;112;52;112	.|B7Z4H1;F8W8M4;A6NKJ2;O14639;B3KVH2;A6NCD9	.|.;.;.;ABLM1_HUMAN;.;.	R|Q	48|112;52;52;52;112;36;36;36;112	.|ENSP00000358256:R52Q;ENSP00000433629:R52Q;ENSP00000277895:R112Q	.|ENSP00000277895:R112Q	G|R	-|-	1|2	0|0	ABLIM1|ABLIM1	116351620|116351620	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	7.487000|7.487000	0.81328|0.81328	2.553000|2.553000	0.86117|0.86117	0.655000|0.655000	0.94253|0.94253	GGG|CGG		0.547	ABLIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050469.3			6	86	0	0	0	1	0	6	86					T	116361630	C	T	116361630	3	4	235	1	0	0	0	0	1	0	0	0	94	652	23	2	2173	2	ABLIM1	10	116361630	Missense_Mutation	SNP	C	TCGA-HC-8262-01A-11D-2260-08	27659294	116361630	19173117	32	10940											
DCHS1	8642	broad.mit.edu	37	chr11	6650985	6650985	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aagaggacgctgtactcctgCtgctggaaagtaggcgcctc	9	8	13	11	2	0	1	0	0	0	1	2	3	1	3	2	3	3	5	2	3	4	2			TCGA-HC-8262-01A-11D-2260-08	TCGA-HC-8262-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e584de7a-84e8-4844-baec-3e5c0e6fbb9d	557d13df-5e0a-415f-847d-60d0b16f88c0	g.chr11:6650985C>T	ENST00000299441.3	-	11	5364	c.4953G>A	c.(4951-4953)caG>caA	p.Q1651Q	RP11-732A19.6_ENST00000526633.1_RNA	NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	1651	Cadherin 16. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|calcium-dependent cell-cell adhesion (GO:0016339)|cochlea development (GO:0090102)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|neural tube development (GO:0021915)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|post-anal tail morphogenesis (GO:0036342)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGTACTCCTGCTGCTGGAAAG	0.657																																						ENST00000299441.3																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103						c.(4951-4953)caG>caA		dachsous cadherin-related 1							40	41	41					11																	6650985		2201	4296	6497	SO:0001819	synonymous_variant	8642				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr11:6650985C>T	AB000895	CCDS7771.1	11p15.4	2013-10-04	2013-10-04	2004-09-03	ENSG00000166341	ENSG00000166341		"Cadherins / Cadherin-related"	13681	protein-coding gene	gene with protein product	"cadherin-related family member 6"	603057	"protocadherin 16", "dachsous 1 (Drosophila)"	CDH25, PCDH16		9199196	Standard	XM_005253207		Approved	FIB1, KIAA1773, FLJ11790, CDHR6	uc001mem.1	Q96JQ0	OTTHUMG00000133398	ENST00000299441.3:c.4953G>A	11.37:g.6650985C>T							p.Q1651Q	NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	11	5364	-		Medulloblastoma(188;0.00263)|all_neural(188;0.026)	1651			Cadherin 16.		O15098	Silent	SNP	ENST00000299441.3	37	c.4953G>A	CCDS7771.1																																																																																				0.657	DCHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257258.1	NM_003737		18	20	0	0	0	1	0	18	20					T	6650985	C	T	6650985	2	4	235	1	0	0	0	0	0	0	0	1	4287	796	28	3		3	DCHS1	11	6650985	Silent	SNP	C	TCGA-HC-8262-01A-11D-2260-08		6650985	128355531	33	10941											
OR5M8	219484	broad.mit.edu	37	chr11	56258763	56258763	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atgtaaatggccagaaacagCgtgaagaggagaatttgtaa	17	8	12	4	1	0	4	0	1	0	3	0	5	0	4	1	2	2	2	1	2	6	3			TCGA-HC-8262-01A-11D-2260-08	TCGA-HC-8262-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e584de7a-84e8-4844-baec-3e5c0e6fbb9d	557d13df-5e0a-415f-847d-60d0b16f88c0	g.chr11:56258763C>T	ENST00000327216.2	-	1	108	c.84G>A	c.(82-84)acG>acA	p.T28T		NM_001005282.1	NP_001005282.1	Q8NGP6	OR5M8_HUMAN	olfactory receptor, family 5, subfamily M, member 8	28						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(22)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	Esophageal squamous(21;0.00352)					CCAGAAACAGCGTGAAGAGGA	0.507																																						ENST00000327216.2																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(22)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						c.(82-84)acG>acA		olfactory receptor, family 5, subfamily M, member 8							98	101	100					11																	56258763		2201	4296	6497	SO:0001819	synonymous_variant	219484				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56258763C>T	AB065744	CCDS31533.1	11q11	2012-08-09			ENSG00000181371	ENSG00000181371		"GPCR / Class A : Olfactory receptors"	14846	protein-coding gene	gene with protein product							Standard	NM_001005282		Approved		uc001nix.1	Q8NGP6	OTTHUMG00000166877	ENST00000327216.2:c.84G>A	11.37:g.56258763C>T							p.T28T	NM_001005282.1	NP_001005282.1	Q8NGP6	OR5M8_HUMAN			1	108	-	Esophageal squamous(21;0.00352)		28					B2RNM5|Q6IEW3|Q96RB8	Silent	SNP	ENST00000327216.2	37	c.84G>A	CCDS31533.1																																																																																				0.507	OR5M8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391641.1	NM_001005282		36	91	0	0	0	1	0	36	91					T	56258763	C	T	56258763	2	4	235	1	0	0	0	0	0	0	0	1	11176	755	27	1		1	OR5M8	11	56258763	Silent	SNP	C	TCGA-HC-8262-01A-11D-2260-08	49607778	56258763	78747753	34	10942											
KCTD14	65987	broad.mit.edu	37	chr11	77734212	77734212	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	agcctcgcacttaccgttggCcgcctgggccggggggactg	4	7	16	14	4	0	0	0	0	0	0	1	1	0	1	5	5	2	2	5	5	1	2			TCGA-HC-8262-01A-11D-2260-08	TCGA-HC-8262-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e584de7a-84e8-4844-baec-3e5c0e6fbb9d	557d13df-5e0a-415f-847d-60d0b16f88c0	g.chr11:77734212C>A	ENST00000353172.5	-	1	128	c.84G>T	c.(82-84)cgG>cgT	p.R28R	NDUFC2-KCTD14_ENST00000530054.1_Intron|NDUFC2-KCTD14_ENST00000528251.1_Intron|KCTD14_ENST00000533144.1_Intron|RP11-7I15.4_ENST00000526730.1_RNA	NM_001203260.1|NM_001203262.1|NM_001282406.1|NM_023930.3	NP_001190189.1|NP_001190191.1|NP_001269335.1|NP_076419.2	Q9BQ13	KCD14_HUMAN	potassium channel tetramerization domain containing 14	28					protein homooligomerization (GO:0051260)					endometrium(2)|kidney(1)|large_intestine(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	15	all_cancers(14;4.53e-19)|all_epithelial(13;1.73e-21)|Breast(9;2.71e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1e-24)			TTACCGTTGGCCGCCTGGGCC	0.692																																					NSCLC(86;414 1416 18100 32729 49271)|Esophageal Squamous(156;1132 1858 11406 36132 46748)	ENST00000353172.5																			0				endometrium(2)|kidney(1)|large_intestine(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	15						c.(82-84)cgG>cgT		potassium channel tetramerization domain containing 14							24	30	28					11																	77734212		1977	4094	6071	SO:0001819	synonymous_variant	65987					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr11:77734212C>A	BC001062	CCDS8255.2, CCDS60908.1	11q13.4	2013-06-20	2013-06-20		ENSG00000151364	ENSG00000151364			23295	protein-coding gene	gene with protein product			"potassium channel tetramerisation domain containing 14"			12477932	Standard	NM_023930		Approved	MGC2376	uc001oyw.4	Q9BQ13	OTTHUMG00000150224	ENST00000353172.5:c.84G>T	11.37:g.77734212C>A						RP11-7I15.4_ENST00000526730.1_RNA|KCTD14_ENST00000533144.1_Intron|NDUFC2-KCTD14_ENST00000530054.1_Intron|NDUFC2-KCTD14_ENST00000528251.1_Intron	p.R28R	NM_001203260.1|NM_001203262.1|NM_023930.3	NP_001190189.1|NP_001190191.1|NP_076419.2	Q9BQ13	KCD14_HUMAN	OV - Ovarian serous cystadenocarcinoma(8;1e-24)		1	128	-	all_cancers(14;4.53e-19)|all_epithelial(13;1.73e-21)|Breast(9;2.71e-16)|Ovarian(111;0.152)		28					B2R9R8	Silent	SNP	ENST00000353172.5	37	c.84G>T	CCDS8255.2																																																																																				0.692	KCTD14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316888.1	NM_023930		5	54	1	0	1.6384e-10	1	1.84981e-10	5	54					A	77734212	C	A	77734212	2	1	235	1	0	0	0	0	0	0	0	1	8101	726	26	5		5	KCTD14	11	77734212	Silent	SNP	C	TCGA-HC-8262-01A-11D-2260-08	21475449	77734212	57272304	35	10943											
MFAP5	8076	broad.mit.edu	37	chr12	8800751	8800751	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gaagtcggaagtaattggagCgacggagtctcctagggggc	10	7	17	7	3	1	0	0	0	1	0	3	5	1	3	1	5	1	1	1	5	4	3			TCGA-HC-8262-01A-11D-2260-08	TCGA-HC-8262-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e584de7a-84e8-4844-baec-3e5c0e6fbb9d	557d13df-5e0a-415f-847d-60d0b16f88c0	g.chr12:8800751C>T	ENST00000359478.2	-	10	645	c.458G>A	c.(457-459)cGc>cAc	p.R153H	MFAP5_ENST00000540087.1_Missense_Mutation_p.R143H|MFAP5_ENST00000535336.1_Missense_Mutation_p.R89H|MFAP5_ENST00000396549.2_Missense_Mutation_p.R143H|MFAP5_ENST00000433590.2_Missense_Mutation_p.R128H|MFAP5_ENST00000543369.1_Missense_Mutation_p.R131H	NM_003480.2	NP_003471.1	Q13361	MFAP5_HUMAN	microfibrillar associated protein 5	153					extracellular fibril organization (GO:0043206)|extracellular matrix organization (GO:0030198)	extracellular region (GO:0005576)|microfibril (GO:0001527)	extracellular matrix structural constituent (GO:0005201)	p.R153H(1)		breast(1)|endometrium(2)|large_intestine(4)|lung(5)|skin(1)	13	Lung SC(5;0.184)					GTAATTGGAGCGACGGAGTCT	0.463																																						ENST00000359478.2																			1	Substitution - Missense(1)	p.R153H(1)	large_intestine(1)	breast(1)|endometrium(2)|large_intestine(4)|lung(5)|skin(1)	13						c.(457-459)cGc>cAc		microfibrillar associated protein 5							80	78	79					12																	8800751		2203	4300	6503	SO:0001583	missense	8076					microfibril	extracellular matrix structural constituent	g.chr12:8800751C>T	AK124368	CCDS8595.1, CCDS73437.1	12p13.1-p12.3	2004-04-05				ENSG00000197614			29673	protein-coding gene	gene with protein product		601103				9792630, 8557636	Standard	XM_005253485		Approved	MAGP2, MP25	uc001qut.1	Q13361		ENST00000359478.2:c.458G>A	12.37:g.8800751C>T	ENSP00000352455:p.Arg153His					MFAP5_ENST00000540087.1_Missense_Mutation_p.R143H|MFAP5_ENST00000543369.1_Missense_Mutation_p.R131H|MFAP5_ENST00000433590.2_Missense_Mutation_p.R128H|MFAP5_ENST00000535336.1_Missense_Mutation_p.R89H|MFAP5_ENST00000396549.2_Missense_Mutation_p.R143H	p.R153H	NM_003480.2	NP_003471.1	Q13361	MFAP5_HUMAN			10	645	-	Lung SC(5;0.184)		153					B0AZL6|D3DUV1|Q7Z490	Missense_Mutation	SNP	ENST00000359478.2	37	c.458G>A	CCDS8595.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	25.0|25.0	4.592419|4.592419	0.86953|0.86953	.|.	.|.	ENSG00000197614|ENSG00000197614	ENST00000535411|ENST00000543467;ENST00000359478;ENST00000433590;ENST00000396549;ENST00000543369;ENST00000535336;ENST00000540087	.|.	.|.	.|.	4.79|4.79	4.79|4.79	0.61399|0.61399	.|.	.|0.157344	.|0.45126	.|D	.|0.000397	T|T	0.61578|0.61578	0.2358|0.2358	L|L	0.32530|0.32530	0.975|0.975	0.34045|0.34045	D|D	0.655471|0.655471	.|D;D;D	.|0.89917	.|1.0;1.0;1.0	.|D;D;D	.|0.83275	.|0.996;0.996;0.996	T|T	0.71553|0.71553	-0.4558|-0.4558	5|9	.|0.87932	.|D	.|0	-24.1146|-24.1146	13.5224|13.5224	0.61576|0.61576	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|128;153;143	.|B3KW70;Q13361;Q7Z490	.|.;MFAP5_HUMAN;.	T|H	143|59;153;128;143;131;89;143	.|.	.|ENSP00000352455:R153H	A|R	-|-	1|2	0|0	MFAP5|MFAP5	8692018|8692018	1.000000|1.000000	0.71417|0.71417	0.987000|0.987000	0.45799|0.45799	0.976000|0.976000	0.68499|0.68499	3.696000|3.696000	0.54757|0.54757	2.646000|2.646000	0.89796|0.89796	0.563000|0.563000	0.77884|0.77884	GCT|CGC		0.463	MFAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400656.2	NM_003480		7	22	0	0	0	1	0	7	22					T	8800751	C	T	8800751	3	4	235	1	0	0	0	0	1	0	0	0	9518	768	27	1	67	1	MFAP5	12	8800751	Missense_Mutation	SNP	C	TCGA-HC-8262-01A-11D-2260-08		8800751	125051144	36	10944											
ABCC9	10060	broad.mit.edu	37	chr12	22012551	22012551	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgttggtgttttgatacagcGctcgtgccacacagattctc	7	14	10	10	2	1	2	0	1	1	1	3	2	1	2	1	1	3	3	1	1	1	5			TCGA-HC-8262-01A-11D-2260-08	TCGA-HC-8262-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e584de7a-84e8-4844-baec-3e5c0e6fbb9d	557d13df-5e0a-415f-847d-60d0b16f88c0	g.chr12:22012551G>A	ENST00000261201.4	-	20	2473	c.2474C>T	c.(2473-2475)gCg>gTg	p.A825V	ABCC9_ENST00000261200.4_Missense_Mutation_p.A825V|RP11-729I10.2_ENST00000539874.1_RNA|ABCC9_ENST00000345162.2_Missense_Mutation_p.A789V	NM_005691.2	NP_005682.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	825	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				defense response to virus (GO:0051607)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	ATP-sensitive potassium channel complex (GO:0008282)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcomere (GO:0030017)|voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|ion channel binding (GO:0044325)|potassium channel activity (GO:0005267)|potassium channel regulator activity (GO:0015459)|sulfonylurea receptor activity (GO:0008281)|transporter activity (GO:0005215)			NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glyburide(DB01016)	TTGATACAGCGCTCGTGCCAC	0.403																																						ENST00000261200.4																			0				NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118						c.(2473-2475)gCg>gTg		ATP-binding cassette, sub-family C (CFTR/MRP), member 9	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)						190	188	189					12																	22012551		2203	4300	6503	SO:0001583	missense	10060				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity	g.chr12:22012551G>A	AF061323	CCDS8693.1, CCDS8694.1	12p12.1	2014-09-17			ENSG00000069431	ENSG00000069431		"ATP binding cassette transporters / subfamily C"	60	protein-coding gene	gene with protein product	"sulfonylurea receptor 2"	601439				9457174, 15034580	Standard	NM_020297		Approved	SUR2, CMD1O	uc001rfh.3	O60706	OTTHUMG00000169094	ENST00000261201.4:c.2474C>T	12.37:g.22012551G>A	ENSP00000261201:p.Ala825Val					ABCC9_ENST00000261201.4_Missense_Mutation_p.A825V|ABCC9_ENST00000345162.2_Missense_Mutation_p.A789V|RP11-729I10.2_ENST00000539874.1_RNA	p.A825V	NM_020297.2	NP_064693.2	O60706	ABCC9_HUMAN			20	2473	-			825			ABC transporter 1.		O60707	Missense_Mutation	SNP	ENST00000261201.4	37	c.2474C>T	CCDS8694.1	.	.	.	.	.	.	.	.	.	.	G	29.1	4.975131	0.92919	.	.	ENSG00000069431	ENST00000261200;ENST00000544039;ENST00000261201;ENST00000345162	D;D;D;D	0.92965	-3.14;-3.14;-3.14;-3.14	4.71	4.71	0.59529	ABC transporter, conserved site (1);ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.000000	0.85682	D	0.000000	D	0.95931	0.8675	M	0.77486	2.375	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.76071	0.987;0.984	D	0.96485	0.9359	10	0.87932	D	0	-14.2169	17.8397	0.88712	0.0:0.0:1.0:0.0	.	825;825	O60706;O60706-2	ABCC9_HUMAN;.	V	825;452;825;789	ENSP00000261200:A825V;ENSP00000440521:A452V;ENSP00000261201:A825V;ENSP00000261202:A789V	ENSP00000261200:A825V	A	-	2	0	ABCC9	21903818	1.000000	0.71417	0.996000	0.52242	0.866000	0.49608	9.640000	0.98453	2.449000	0.82847	0.467000	0.42956	GCG		0.403	ABCC9-002	KNOWN	not_organism_supported|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402230.1	NM_005691		3	80	0	0	0	1	0	3	80					A	22012551	G	A	22012551	3	1	235	1	0	0	0	0	1	0	0	0	59	1087	38	1	2393	1	ABCC9	12	22012551	Missense_Mutation	SNP	G	TCGA-HC-8262-01A-11D-2260-08	13211800	22012551	111839344	37	10945											
METT11D1	64745	broad.mit.edu	37	chr14	21464873	21464874	+	Intron	INS	-	-	T																															gcccgccggcacggcaggtaINStggggggtgtgaccaaaatc																										TCGA-HC-8262-01A-11D-2260-08	TCGA-HC-8262-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e584de7a-84e8-4844-baec-3e5c0e6fbb9d	557d13df-5e0a-415f-847d-60d0b16f88c0	g.chr14:21464873_21464874insT	ENST00000339374.6	+	13	1498				METTL17_ENST00000556670.2_Intron|METTL17_ENST00000382985.4_Frame_Shift_Ins_p.G424fs|SLC39A2_ENST00000298681.4_5'Flank|SLC39A2_ENST00000554422.1_5'Flank|RP11-84C10.4_ENST00000557335.1_RNA	NM_001029991.1|NM_022734.2	NP_001025162.1|NP_073571.1	Q9H7H0	MET17_HUMAN	methyltransferase like 17						translation (GO:0006412)	mitochondrion (GO:0005739)|ribosome (GO:0005840)	copper ion binding (GO:0005507)|methyltransferase activity (GO:0008168)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|skin(2)	20						CACGGCAGGTATGGGGGGTGTG	0.589																																						ENST00000382985.4																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|skin(2)	20						c.(1267-1269)tggfs		methyltransferase like 17																																				SO:0001627	intron_variant	64745				translation	mitochondrion|ribosome	copper ion binding|methyltransferase activity	g.chr14:21464873_21464874insT	AK024512	CCDS9562.1, CCDS41913.1	14q11.2	2011-03-03	2011-03-02	2011-03-02	ENSG00000165792	ENSG00000165792			19280	protein-coding gene	gene with protein product			"methyltransferase 11 domain containing 1"	METT11D1		11278769	Standard	XM_006720235		Approved	FLJ20859	uc001vyn.3	Q9H7H0	OTTHUMG00000029610	ENST00000339374.6:c.1265+3->T	14.37:g.21464874_21464874dupT						METTL17_ENST00000556670.2_Intron|RP11-84C10.4_ENST00000557335.1_RNA|METTL17_ENST00000339374.6_Intron	p.W423fs			Q9H7H0	MET17_HUMAN			13	1291_1292	+			0					Q9BSH1|Q9BZH2|Q9BZH3	Frame_Shift_Ins	INS	ENST00000339374.6	37	c.1268_1269insT	CCDS9562.1																																																																																				0.589	METTL17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073804.4	NM_022734		9	147						9	147	---	---	---	---	T	21464874	-	T	21464873	6	5	235	0	1	1	1	0	0	0	0	0	9491	449	16	0		0	METT11D1	14	21464873	Intron	INS	-	TCGA-HC-8262-01A-11D-2260-08		21464873	85884667	38	10946											
TRIM9	114088	broad.mit.edu	37	chr14	51489667	51489667	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agacaggcttcaaactccacActgttctcctgtgtaacaga	12	10	7	12	0	2	2	1	0	1	2	4	2	3	2	2	1	2	3	2	1	2	3			TCGA-HC-8262-01A-11D-2260-08	TCGA-HC-8262-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e584de7a-84e8-4844-baec-3e5c0e6fbb9d	557d13df-5e0a-415f-847d-60d0b16f88c0	g.chr14:51489667A>C	ENST00000298355.3	-	3	2048	c.927T>G	c.(925-927)agT>agG	p.S309R	TRIM9_ENST00000360392.4_Missense_Mutation_p.S309R|TRIM9_ENST00000338969.5_Missense_Mutation_p.S309R	NM_015163.5	NP_055978.4	Q9C026	TRIM9_HUMAN	tripartite motif containing 9	309					negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of SNARE complex assembly (GO:0035544)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|synaptic vesicle exocytosis (GO:0016079)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dendrite (GO:0030425)|synaptic vesicle (GO:0008021)	ligase activity (GO:0016874)|protein homodimerization activity (GO:0042803)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|liver(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_epithelial(31;0.00418)|Breast(41;0.148)					CAAACTCCACACTGTTCTCCT	0.552																																						ENST00000298355.3																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|liver(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						c.(925-927)agT>agG		tripartite motif containing 9							123	122	122					14																	51489667		2203	4300	6503	SO:0001583	missense	114088				proteasomal ubiquitin-dependent protein catabolic process	cell junction|cytoskeleton|dendrite|synaptic vesicle	protein homodimerization activity|ubiquitin-protein ligase activity|zinc ion binding	g.chr14:51489667A>C	AF220036	CCDS9703.1, CCDS45105.1	14q21.3	2013-02-11	2011-01-25		ENSG00000100505	ENSG00000100505		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers", "Fibronectin type III domain containing"	16288	protein-coding gene	gene with protein product		606555	"tripartite motif-containing 9"			11331580, 11524423	Standard	NM_015163		Approved	SPRING, RNF91	uc001wyx.4	Q9C026	OTTHUMG00000140291	ENST00000298355.3:c.927T>G	14.37:g.51489667A>C	ENSP00000298355:p.Ser309Arg					TRIM9_ENST00000338969.5_Missense_Mutation_p.S309R|TRIM9_ENST00000360392.4_Missense_Mutation_p.S309R	p.S309R	NM_015163.5	NP_055978.4	Q9C026	TRIM9_HUMAN			3	2048	-	all_epithelial(31;0.00418)|Breast(41;0.148)		309					D3DSB7|D3DSB8|Q92557|Q96D24|Q96NI4|Q9C025|Q9C027	Missense_Mutation	SNP	ENST00000298355.3	37	c.927T>G	CCDS9703.1	.	.	.	.	.	.	.	.	.	.	A	15.38	2.815654	0.50527	.	.	ENSG00000100505	ENST00000298355;ENST00000338969;ENST00000360392	T;T;T	0.70986	-0.4;-0.53;0.51	5.58	-6.46	0.01908	B-box, C-terminal (1);	0.043907	0.85682	D	0.000000	T	0.64427	0.2597	L	0.34521	1.04	0.29171	N	0.877109	B;P;P	0.41159	0.429;0.713;0.74	P;P;B	0.48952	0.533;0.596;0.418	T	0.66172	-0.5990	10	0.49607	T	0.09	.	16.6839	0.85300	0.4073:0.0:0.5927:0.0	.	309;309;309	Q9C026-5;Q9C026-4;Q9C026	.;.;TRIM9_HUMAN	R	309	ENSP00000298355:S309R;ENSP00000342970:S309R;ENSP00000353561:S309R	ENSP00000298355:S309R	S	-	3	2	TRIM9	50559417	0.003000	0.15002	0.746000	0.31095	0.974000	0.67602	-1.030000	0.03581	-1.653000	0.01500	-0.290000	0.09829	AGT		0.552	TRIM9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276874.1	NM_015163		11	42	0	0	0	1	0	11	42					C	51489667	A	C	51489667	3	2	235	1	0	0	0	0	1	0	0	0	16546	156	6	5	1287	5	TRIM9	14	51489667	Missense_Mutation	SNP	A	TCGA-HC-8262-01A-11D-2260-08	30024794	51489667	55859873	39	10947											
BNC1	646	broad.mit.edu	37	chr15	83932046	83932046	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtgaagtagtgttcatggcCaccatcctcgacctcccttg	7	12	9	13	1	1	1	1	1	0	0	4	2	3	1	5	1	0	2	5	1	2	3			TCGA-HC-8262-01A-11D-2260-08	TCGA-HC-8262-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e584de7a-84e8-4844-baec-3e5c0e6fbb9d	557d13df-5e0a-415f-847d-60d0b16f88c0	g.chr15:83932046C>G	ENST00000345382.2	-	4	2042	c.1957G>C	c.(1957-1959)Ggc>Cgc	p.G653R	BNC1_ENST00000569704.1_Missense_Mutation_p.G646R|RP11-382A20.4_ENST00000565495.1_RNA	NM_001717.3	NP_001708.3	Q01954	BNC1_HUMAN	basonuclin 1	653					chromosome organization (GO:0051276)|epidermis development (GO:0008544)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|regulation of transcription from RNA polymerase I promoter (GO:0006356)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	56						TGTTCATGGCCACCATCCTCG	0.557																																						ENST00000345382.2																			0				NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	56						c.(1957-1959)Ggc>Cgc		basonuclin 1							114	114	114					15																	83932046		2203	4300	6503	SO:0001583	missense	646				epidermis development|positive regulation of cell proliferation	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr15:83932046C>G	L03427	CCDS10324.1, CCDS73771.1	15q25.1	2013-05-20	2004-04-30	2004-05-04	ENSG00000169594	ENSG00000169594		"Zinc fingers, C2H2-type"	1081	protein-coding gene	gene with protein product		601930	"basonuclin"	BNC		1332044	Standard	NM_001717		Approved	HsT19447	uc002bjt.1	Q01954	OTTHUMG00000147362	ENST00000345382.2:c.1957G>C	15.37:g.83932046C>G	ENSP00000307041:p.Gly653Arg					RP11-382A20.4_ENST00000565495.1_RNA|BNC1_ENST00000569704.1_Missense_Mutation_p.G646R	p.G653R	NM_001717.3	NP_001708.3	Q01954	BNC1_HUMAN			4	2042	-			653					Q15840	Missense_Mutation	SNP	ENST00000345382.2	37	c.1957G>C	CCDS10324.1	.	.	.	.	.	.	.	.	.	.	C	12.00	1.807054	0.31961	.	.	ENSG00000169594	ENST00000345382;ENST00000541809	T	0.41400	1.0	4.79	3.87	0.44632	.	0.337474	0.31648	N	0.007294	T	0.36826	0.0981	L	0.51422	1.61	0.19575	N	0.999968	P;P	0.46706	0.773;0.883	B;B	0.43508	0.219;0.422	T	0.16897	-1.0387	10	0.17832	T	0.49	-17.2847	11.2421	0.48974	0.0:0.9153:0.0:0.0846	.	646;653	F5GY04;Q01954	.;BNC1_HUMAN	R	653;646	ENSP00000307041:G653R	ENSP00000307041:G653R	G	-	1	0	BNC1	81723050	0.739000	0.28196	0.016000	0.15963	0.708000	0.40852	1.699000	0.37804	1.222000	0.43521	0.655000	0.94253	GGC		0.557	BNC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000304006.1	NM_001717		17	54	0	0	0	1	0	17	54					G	83932046	C	G	83932046	3	3	235	1	0	0	0	0	1	0	0	0	1474	594	21	5	1035	5	BNC1	15	83932046	Missense_Mutation	SNP	C	TCGA-HC-8262-01A-11D-2260-08		83932046	18599346	40	10948											
COG7	91949	broad.mit.edu	37	chr16	23444927	23444927	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aggcatcatagagtccggtaAgctgccggtccagggatagg	10	7	15	9	2	1	1	1	0	0	1	3	2	3	2	3	5	2	3	3	5	3	3			TCGA-HC-8262-01A-11D-2260-08	TCGA-HC-8262-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e584de7a-84e8-4844-baec-3e5c0e6fbb9d	557d13df-5e0a-415f-847d-60d0b16f88c0	g.chr16:23444927A>G	ENST00000307149.5	-	6	934	c.749T>C	c.(748-750)cTt>cCt	p.L250P		NM_153603.3	NP_705831.1	P83436	COG7_HUMAN	component of oligomeric golgi complex 7	250					intracellular protein transport (GO:0006886)|protein glycosylation (GO:0006486)|protein localization to Golgi apparatus (GO:0034067)|protein localization to organelle (GO:0033365)|protein stabilization (GO:0050821)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	Golgi apparatus (GO:0005794)|Golgi transport complex (GO:0017119)|membrane (GO:0016020)				breast(1)|central_nervous_system(1)|endometrium(7)|large_intestine(9)|liver(1)|lung(7)|urinary_tract(1)	27				GBM - Glioblastoma multiforme(48;0.0401)		GAGTCCGGTAAGCTGCCGGTC	0.507																																						ENST00000307149.5																			0				breast(1)|central_nervous_system(1)|endometrium(7)|large_intestine(9)|liver(1)|lung(7)|urinary_tract(1)	27						c.(748-750)cTt>cCt		component of oligomeric golgi complex 7							101	91	94					16																	23444927		2197	4300	6497	SO:0001583	missense	91949				intracellular protein transport|protein glycosylation|protein localization in Golgi apparatus|protein stabilization|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane|Golgi transport complex	protein binding	g.chr16:23444927A>G	AF070568	CCDS10610.1	16p12.2	2008-02-05			ENSG00000168434	ENSG00000168434		"Components of oligomeric golgi complex"	18622	protein-coding gene	gene with protein product		606978				11980916	Standard	NM_153603		Approved		uc002dlo.3	P83436	OTTHUMG00000094807	ENST00000307149.5:c.749T>C	16.37:g.23444927A>G	ENSP00000305442:p.Leu250Pro						p.L250P	NM_153603.3	NP_705831.1	P83436	COG7_HUMAN		GBM - Glioblastoma multiforme(48;0.0401)	6	934	-			250					Q6UWU7	Missense_Mutation	SNP	ENST00000307149.5	37	c.749T>C	CCDS10610.1	.	.	.	.	.	.	.	.	.	.	A	18.72	3.683675	0.68157	.	.	ENSG00000168434	ENST00000307149	T	0.69806	-0.43	5.04	5.04	0.67666	.	0.065952	0.64402	D	0.000007	T	0.80226	0.4584	M	0.72118	2.19	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.82094	-0.0627	10	0.59425	D	0.04	-22.6288	13.9472	0.64091	1.0:0.0:0.0:0.0	.	250	P83436	COG7_HUMAN	P	250	ENSP00000305442:L250P	ENSP00000305442:L250P	L	-	2	0	COG7	23352428	1.000000	0.71417	0.958000	0.39756	0.541000	0.35023	8.296000	0.89940	1.891000	0.54761	0.533000	0.62120	CTT		0.507	COG7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211625.1			9	43	0	0	0	1	0	9	43					G	23444927	A	G	23444927	3	3	235	1	0	0	0	0	1	0	0	0	3663	72	3	4	1611	4	COG7	16	23444927	Missense_Mutation	SNP	A	TCGA-HC-8262-01A-11D-2260-08		23444927	66909826	41	10949											
ZZEF1	23140	broad.mit.edu	37	chr17	3979978	3979978	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acagagcttcttcaggagttCtgtgaggacgctgaactctc	9	11	11	10	1	4	3	1	2	3	1	5	5	4	5	0	2	2	3	0	2	1	3			TCGA-HC-8262-01A-11D-2260-08	TCGA-HC-8262-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e584de7a-84e8-4844-baec-3e5c0e6fbb9d	557d13df-5e0a-415f-847d-60d0b16f88c0	g.chr17:3979978C>A	ENST00000381638.2	-	21	3311	c.3187G>T	c.(3187-3189)Gaa>Taa	p.E1063*	ZZEF1_ENST00000574474.1_5'UTR	NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN	zinc finger, ZZ-type with EF-hand domain 1	1063							calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						TTCAGGAGTTCTGTGAGGACG	0.532																																						ENST00000381638.2																			0				central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						c.(3187-3189)Gaa>Taa		zinc finger, ZZ-type with EF-hand domain 1							46	44	44					17																	3979978		2203	4300	6503	SO:0001587	stop_gained	23140						calcium ion binding|zinc ion binding	g.chr17:3979978C>A	BC035319	CCDS11043.1	17p13.3	2013-01-10	2004-11-03		ENSG00000074755	ENSG00000074755		"Zinc fingers, ZZ-type", "EF-hand domain containing"	29027	protein-coding gene	gene with protein product			"zinc finger, ZZ-type with EF hand domain 1"			9455477	Standard	XM_005256560		Approved	KIAA0399, ZZZ4, FLJ10821	uc002fxe.3	O43149	OTTHUMG00000090741	ENST00000381638.2:c.3187G>T	17.37:g.3979978C>A	ENSP00000371051:p.Glu1063*					ZZEF1_ENST00000574474.1_5'UTR	p.E1063*	NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN			21	3311	-			1063					A7MBM5|Q6NXG0|Q6ZRA1|Q6ZSF4|Q9NVB9	Nonsense_Mutation	SNP	ENST00000381638.2	37	c.3187G>T	CCDS11043.1	.	.	.	.	.	.	.	.	.	.	C	37	6.419433	0.97550	.	.	ENSG00000074755	ENST00000381638	.	.	.	5.76	5.76	0.90799	.	0.145413	0.64402	D	0.000008	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.25751	T	0.34	-9.3116	16.229	0.82321	0.0:0.8673:0.1327:0.0	.	.	.	.	X	1063	.	ENSP00000371051:E1063X	E	-	1	0	ZZEF1	3926727	0.999000	0.42202	0.580000	0.28601	0.007000	0.05969	4.285000	0.58989	2.736000	0.93811	0.655000	0.94253	GAA		0.532	ZZEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207480.1	NM_015113		9	16	1	0	0.000274275	1	0.000295373	9	16					A	3979978	C	A	3979978	4	1	235	1	0	0	0	0	0	1	0	0	18252	922	32	5	5838	5	ZZEF1	17	3979978	Nonsense_Mutation	SNP	C	TCGA-HC-8262-01A-11D-2260-08		3979978	77215232	42	10950											
PHF23	79142	broad.mit.edu	37	chr17	7140001	7140001	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tctggatggttcgaagatctGagggggccgagtcccagcca	8	8	15	10	2	2	2	0	1	2	1	4	5	3	3	3	4	1	1	3	4	1	1			TCGA-HC-8262-01A-11D-2260-08	TCGA-HC-8262-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e584de7a-84e8-4844-baec-3e5c0e6fbb9d	557d13df-5e0a-415f-847d-60d0b16f88c0	g.chr17:7140001G>A	ENST00000320316.3	-	4	471	c.245C>T	c.(244-246)tCa>tTa	p.S82L	PHF23_ENST00000571362.1_Intron|PHF23_ENST00000454255.2_Missense_Mutation_p.S78L|PHF23_ENST00000570753.1_5'UTR|DVL2_ENST00000575458.1_5'Flank|DVL2_ENST00000005340.5_5'Flank|PHF23_ENST00000576955.1_5'UTR	NM_001284518.1|NM_024297.2	NP_001271447.1|NP_077273.2	Q9BUL5	PHF23_HUMAN	PHD finger protein 23	82							zinc ion binding (GO:0008270)			breast(4)|kidney(2)|large_intestine(6)|lung(3)	15						TCGAAGATCTGAGGGGGCCGA	0.572																																						ENST00000320316.3																			0				breast(4)|kidney(2)|large_intestine(6)|lung(3)	15						c.(244-246)tCa>tTa		PHD finger protein 23							88	97	94					17																	7140001		1931	4140	6071	SO:0001583	missense	79142						zinc ion binding	g.chr17:7140001G>A	AK122791	CCDS42250.1, CCDS67143.1, CCDS67144.1	17p13.1	2014-08-13			ENSG00000040633	ENSG00000040633		"Zinc fingers, PHD-type"	28428	protein-coding gene	gene with protein product		612910					Standard	NM_024297		Approved	MGC2941, FLJ16355	uc002gfa.3	Q9BUL5	OTTHUMG00000177972	ENST00000320316.3:c.245C>T	17.37:g.7140001G>A	ENSP00000322579:p.Ser82Leu					PHF23_ENST00000571362.1_Intron|PHF23_ENST00000576955.1_5'UTR|PHF23_ENST00000570753.1_5'UTR|PHF23_ENST00000454255.2_Missense_Mutation_p.S78L	p.S82L	NM_024297.2	NP_077273.2	Q9BUL5	PHF23_HUMAN			4	471	-			82					A1DZ74|B3KVH8|B4DLK6|D3DTN4|Q8IZK0|Q96HG7|Q9H5X0	Missense_Mutation	SNP	ENST00000320316.3	37	c.245C>T	CCDS42250.1	.	.	.	.	.	.	.	.	.	.	G	16.57	3.160258	0.57368	.	.	ENSG00000040633	ENST00000320316;ENST00000454255;ENST00000043410	T;T	0.38401	1.14;1.19	4.8	4.8	0.61643	.	0.000000	0.64402	D	0.000003	T	0.45716	0.1356	L	0.43923	1.385	0.47123	D	0.999328	D	0.61697	0.99	P	0.60068	0.868	T	0.41875	-0.9484	10	0.87932	D	0	-8.6636	10.4478	0.44505	0.0:0.0:0.8057:0.1943	.	82	Q9BUL5	PHF23_HUMAN	L	82;78;82	ENSP00000322579:S82L;ENSP00000414607:S78L	ENSP00000043410:S82L	S	-	2	0	PHF23	7080725	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.956000	0.63645	2.488000	0.83962	0.557000	0.71058	TCA		0.572	PHF23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440047.1	NM_024297		24	98	0	0	0	1	0	24	98					A	7140001	G	A	7140001	3	1	235	1	0	0	0	0	1	0	0	0	11835	1294	45	3	974	3	PHF23	17	7140001	Missense_Mutation	SNP	G	TCGA-HC-8262-01A-11D-2260-08	3160023	7140001	74055209	43	10951											
TUBB6	84617	broad.mit.edu	37	chr18	12325161	12325161	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	acgtggtgcggaaggagtgcGagcactgcgactgcctgcag	8	6	17	10	4	0	0	0	0	0	0	0	4	0	2	1	3	6	2	1	3	1	0			TCGA-HC-8262-01A-11D-2260-08	TCGA-HC-8262-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e584de7a-84e8-4844-baec-3e5c0e6fbb9d	557d13df-5e0a-415f-847d-60d0b16f88c0	g.chr18:12325161G>A	ENST00000317702.5	+	4	607	c.373G>A	c.(373-375)Gag>Aag	p.E125K	TUBB6_ENST00000590967.1_Intron|TUBB6_ENST00000591208.1_Intron|TUBB6_ENST00000586653.1_3'UTR|TUBB6_ENST00000591909.1_Intron			Q9BUF5	TBB6_HUMAN	tubulin, beta 6 class V	125					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|microtubule-based process (GO:0007017)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|prostate(1)	14				READ - Rectum adenocarcinoma(1;0.0649)		GAAGGAGTGCGAGCACTGCGA	0.672																																						ENST00000317702.5																			0				endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|prostate(1)	14						c.(373-375)Gag>Aag		tubulin, beta 6 class V							101	84	90					18																	12325161		2203	4300	6503	SO:0001583	missense	84617				'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity	g.chr18:12325161G>A	AK001295	CCDS11858.1	18p11.21	2011-10-10	2011-10-10		ENSG00000176014	ENSG00000176014		"Tubulins"	20776	protein-coding gene	gene with protein product	"tubulin beta MGC4083", "class V beta-tubulin"	615103	"tubulin, beta 6"			12477932	Standard	NM_032525		Approved	MGC4083, HsT1601	uc002kqw.3	Q9BUF5	OTTHUMG00000131692	ENST00000317702.5:c.373G>A	18.37:g.12325161G>A	ENSP00000318697:p.Glu125Lys					TUBB6_ENST00000591208.1_Intron|TUBB6_ENST00000590967.1_Intron|TUBB6_ENST00000586653.1_3'UTR|TUBB6_ENST00000591909.1_Intron	p.E125K			Q9BUF5	TBB6_HUMAN		READ - Rectum adenocarcinoma(1;0.0649)	4	607	+			125					B3KM76|Q9HA42	Missense_Mutation	SNP	ENST00000317702.5	37	c.373G>A	CCDS11858.1	.	.	.	.	.	.	.	.	.	.	G	15.23	2.772881	0.49680	.	.	ENSG00000176014	ENST00000317702;ENST00000417736	T	0.79247	-1.25	5.08	5.08	0.68730	Tubulin/FtsZ, GTPase domain (4);	0.000000	0.85682	D	0.000000	D	0.87192	0.6116	H	0.97240	3.965	0.80722	D	1	P	0.46512	0.879	B	0.41988	0.372	D	0.92098	0.5686	10	0.87932	D	0	.	18.8254	0.92115	0.0:0.0:1.0:0.0	.	125	Q9BUF5	TBB6_HUMAN	K	125;53	ENSP00000318697:E125K	ENSP00000318697:E125K	E	+	1	0	TUBB6	12315161	1.000000	0.71417	0.992000	0.48379	0.458000	0.32498	9.675000	0.98638	2.528000	0.85240	0.491000	0.48974	GAG		0.672	TUBB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254600.2	NM_032525		24	71	0	0	0	1	0	24	71					A	12325161	G	A	12325161	3	1	235	1	0	0	0	0	1	0	0	0	16757	1059	37	2	387	2	TUBB6	18	12325161	Missense_Mutation	SNP	G	TCGA-HC-8262-01A-11D-2260-08		12325161	65752087	44	10952											
ZNF236	7776	broad.mit.edu	37	chr18	74592173	74592173	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	agcgacgtcatccagcagctCctggagctctcagagccggc	8	6	12	15	3	2	1	2	0	1	1	5	3	4	2	3	2	5	3	3	2	0	0			TCGA-HC-8262-01A-11D-2260-08	TCGA-HC-8262-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e584de7a-84e8-4844-baec-3e5c0e6fbb9d	557d13df-5e0a-415f-847d-60d0b16f88c0	g.chr18:74592173C>A	ENST00000253159.8	+	8	1281	c.1083C>A	c.(1081-1083)ctC>ctA	p.L361L	ZNF236_ENST00000320610.9_Silent_p.L363L	NM_007345.3	NP_031371.3	Q9UL36	ZN236_HUMAN	zinc finger protein 236	361					cellular response to glucose stimulus (GO:0071333)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(43)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	94		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)		TCCAGCAGCTCCTGGAGCTCT	0.627																																						ENST00000253159.8																			0				NS(1)|breast(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(43)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	94						c.(1081-1083)ctC>ctA		zinc finger protein 236							38	43	41					18																	74592173		2009	4161	6170	SO:0001819	synonymous_variant	7776				cellular response to glucose stimulus	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr18:74592173C>A	AF085243	CCDS42447.1	18q22-q23	2013-01-08				ENSG00000130856		"Zinc fingers, C2H2-type"	13028	protein-coding gene	gene with protein product		604760				10458916	Standard	NM_007345		Approved		uc002lmi.3	Q9UL36		ENST00000253159.8:c.1083C>A	18.37:g.74592173C>A						ZNF236_ENST00000320610.9_Silent_p.L363L	p.L361L	NM_007345.3	NP_031371.3	Q9UL36	ZN236_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)	8	1281	+		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)	361					B2RTX9|Q9UL37	Silent	SNP	ENST00000253159.8	37	c.1083C>A	CCDS42447.1																																																																																				0.627	ZNF236-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000445776.1			8	26	1	0	0.00307968	1	0.00326633	8	26					A	74592173	C	A	74592173	2	1	235	1	0	0	0	0	0	0	0	1	17786	842	30	5		5	ZNF236	18	74592173	Silent	SNP	C	TCGA-HC-8262-01A-11D-2260-08	62267012	74592173	3485075	45	10953											
NOTCH3	4854	broad.mit.edu	37	chr19	15311619	15311621	+	In_Frame_Del	DEL	AGC	AGC	-																															ctgcagcccccggccccgctAgcagcagcagcaggggcagc																										TCGA-HC-8262-01A-11D-2260-08	TCGA-HC-8262-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e584de7a-84e8-4844-baec-3e5c0e6fbb9d	557d13df-5e0a-415f-847d-60d0b16f88c0	g.chr19:15311619_15311621delAGC	ENST00000263388.2	-	1	171_173	c.96_98delGCT	c.(94-99)ctgcta>cta	p.32_33LL>L		NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	notch 3	32					forebrain development (GO:0030900)|gene expression (GO:0010467)|glomerular capillary formation (GO:0072104)|negative regulation of neuron differentiation (GO:0045665)|neuron fate commitment (GO:0048663)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|positive regulation of smooth muscle cell proliferation (GO:0048661)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			CGGCCCCGCTAGCAGCAGCAGCA	0.808																																						ENST00000263388.2																			0				breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93						c.(94-99)cta>ct		notch 3				6,1996		1,4,996						-0.4	1			3	29,4433		4,21,2206	no	coding	NOTCH3	NM_000435.2		5,25,3202	A1A1,A1R,RR		0.6499,0.2997,0.5415				35,6429				SO:0001651	inframe_deletion	4854				Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	g.chr19:15311619_15311621delAGC	U97669	CCDS12326.1	19p13.2-p13.1	2013-01-10	2010-06-24			ENSG00000074181		"Ankyrin repeat domain containing"	7883	protein-coding gene	gene with protein product		600276	"Notch (Drosophila) homolog 3", "Notch homolog 3 (Drosophila)"	CADASIL		7835890	Standard	NM_000435		Approved	CASIL	uc002nan.3	Q9UM47		ENST00000263388.2:c.96_98delGCT	19.37:g.15311628_15311630delAGC	ENSP00000263388:p.Leu33del						p.LL32del	NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)		1	171_173	-			32					Q9UEB3|Q9UPL3|Q9Y6L8	In_Frame_Del	DEL	ENST00000263388.2	37	c.96_98delGCT	CCDS12326.1																																																																																				0.808	NOTCH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465714.1	NM_000435		2	4						2	4	---	---	---	---	-	15311621	AGC	-	15311619	7	5	235	1	0	1	0	1	0	0	0	0	10550	420	15	0	6999	0	NOTCH3	19	15311619	In_Frame_Del	DEL	AGC	TCGA-HC-8262-01A-11D-2260-08		15311619	43817364	46	10954											
NLRP5	126206	broad.mit.edu	37	chr19	56552353	56552353	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctcagccctcgtcagcaaccGgagcttgacacacctgtgcc	8	7	9	17	2	2	1	2	1	0	0	3	2	2	2	4	1	5	2	4	1	1	1			TCGA-HC-8262-01A-11D-2260-08	TCGA-HC-8262-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e584de7a-84e8-4844-baec-3e5c0e6fbb9d	557d13df-5e0a-415f-847d-60d0b16f88c0	g.chr19:56552353G>A	ENST00000390649.3	+	11	2852	c.2852G>A	c.(2851-2853)cGg>cAg	p.R951Q		NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN	NLR family, pyrin domain containing 5	951					cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|embryo implantation (GO:0007566)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|neuron death (GO:0070997)|organ morphogenesis (GO:0009887)|regulation of protein stability (GO:0031647)|regulation of RNA stability (GO:0043487)	apical cortex (GO:0045179)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|protein complex (GO:0043234)	ATP binding (GO:0005524)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		GTCAGCAACCGGAGCTTGACA	0.567																																						ENST00000390649.3																			0				breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25						c.(2851-2853)cGg>cAg		NLR family, pyrin domain containing 5							118	117	117					19																	56552353		2035	4216	6251	SO:0001583	missense	126206					mitochondrion|nucleolus	ATP binding	g.chr19:56552353G>A	AY154460	CCDS12938.1	19q13.43	2008-10-30	2006-12-08	2006-12-08	ENSG00000171487	ENSG00000171487		"Nucleotide-binding domain and leucine rich repeat containing"	21269	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 5"	609658	"NACHT, leucine rich repeat and PYD containing 5"	NALP5		12563287, 11925379	Standard	NM_153447		Approved	PYPAF8, MATER, PAN11, CLR19.8	uc002qmj.3	P59047	OTTHUMG00000149887	ENST00000390649.3:c.2852G>A	19.37:g.56552353G>A	ENSP00000375063:p.Arg951Gln						p.R951Q	NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN		GBM - Glioblastoma multiforme(193;0.0326)	11	2852	+		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)	951					A8MTY4|Q86W29	Missense_Mutation	SNP	ENST00000390649.3	37	c.2852G>A	CCDS12938.1	.	.	.	.	.	.	.	.	.	.	G	4.033	0.003594	0.07866	.	.	ENSG00000171487	ENST00000390649	T	0.61980	0.06	4.37	-8.74	0.00838	.	1.165660	0.06891	N	0.804302	T	0.24198	0.0586	N	0.01668	-0.77	0.09310	N	1	B	0.18863	0.031	B	0.08055	0.003	T	0.18999	-1.0319	10	0.19590	T	0.45	.	5.4908	0.16774	0.5173:0.0:0.2723:0.2104	.	951	P59047	NALP5_HUMAN	Q	951	ENSP00000375063:R951Q	ENSP00000375063:R951Q	R	+	2	0	NLRP5	61244165	0.000000	0.05858	0.000000	0.03702	0.055000	0.15305	-1.220000	0.02971	-2.114000	0.00832	-0.782000	0.03352	CGG		0.567	NLRP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313735.1	NM_153447		3	113	0	0	0	1	0	3	113					A	56552353	G	A	56552353	3	1	235	1	0	0	0	0	1	0	0	0	10480	1116	39	2	2894	2	NLRP5	19	56552353	Missense_Mutation	SNP	G	TCGA-HC-8262-01A-11D-2260-08	41240734	56552353	2576630	47	10955											
CRYBB2	1415	broad.mit.edu	37	chr22	25627721	25627721	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagtggcaccaacgtggtgcCttccacccctccaactagtg	8	8	9	16	1	0	0	0	0	0	0	2	0	2	0	6	2	3	1	6	2	3	2			TCGA-HC-8262-01A-11D-2260-08	TCGA-HC-8262-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e584de7a-84e8-4844-baec-3e5c0e6fbb9d	557d13df-5e0a-415f-847d-60d0b16f88c0	g.chr22:25627721C>T	ENST00000398215.2	+	6	771	c.600C>T	c.(598-600)gcC>gcT	p.A200A		NM_000496.2	NP_000487.1	P43320	CRBB2_HUMAN	crystallin, beta B2	200	C-terminal arm.				camera-type eye development (GO:0043010)|response to stimulus (GO:0050896)|visual perception (GO:0007601)		identical protein binding (GO:0042802)|structural constituent of eye lens (GO:0005212)|structural molecule activity (GO:0005198)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)	10						AACGTGGTGCCTTCCACCCCT	0.622																																						ENST00000398215.2																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)	10						c.(598-600)gcC>gcT		crystallin, beta B2							95	73	80					22																	25627721		2203	4300	6503	SO:0001819	synonymous_variant	1415				response to stimulus|visual perception		structural constituent of eye lens	g.chr22:25627721C>T		CCDS13831.1	22q11.23	2008-06-10			ENSG00000244752	ENSG00000244752			2398	protein-coding gene	gene with protein product		123620		CCA2, CRYB2A, CRYB2		9158139, 8224918	Standard	XM_006724141		Approved		uc003abp.1	P43320	OTTHUMG00000150905	ENST00000398215.2:c.600C>T	22.37:g.25627721C>T							p.A200A	NM_000496.2	NP_000487.1	P43320	CRBB2_HUMAN			6	771	+			200			C-terminal arm.		Q9UCM8	Silent	SNP	ENST00000398215.2	37	c.600C>T	CCDS13831.1																																																																																				0.622	CRYBB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320350.1	NM_000496		17	50	0	0	0	1	0	17	50					T	25627721	C	T	25627721	2	4	235	1	0	0	0	0	0	0	0	1	3911	668	24	3		3	CRYBB2	22	25627721	Silent	SNP	C	TCGA-HC-8262-01A-11D-2260-08		25627721	25676845	48	10956											
DDX26B	203522	broad.mit.edu	37	chrX	134709032	134709032	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cccttcatagtgttccagttGcacaaatgggtaactatcag	11	12	8	10	0	2	0	2	0	0	0	3	0	3	0	2	1	2	4	2	1	4	6			TCGA-HC-8262-01A-11D-2260-08	TCGA-HC-8262-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e584de7a-84e8-4844-baec-3e5c0e6fbb9d	557d13df-5e0a-415f-847d-60d0b16f88c0	g.chrX:134709032G>A	ENST00000370752.4	+	13	1988	c.1654G>A	c.(1654-1656)Gca>Aca	p.A552T	DDX26B_ENST00000481908.1_3'UTR	NM_182540.4	NP_872346.3	Q5JSJ4	DX26B_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 26B	552										large_intestine(1)|lung(8)	9	Acute lymphoblastic leukemia(192;6.56e-05)					TGTTCCAGTTGCACAAATGGG	0.413																																						ENST00000370752.4																			0				large_intestine(1)|lung(8)	9						c.(1654-1656)Gca>Aca		DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 26B							178	155	163					X																	134709032		2203	4300	6503	SO:0001583	missense	203522							g.chrX:134709032G>A	AK096544	CCDS35401.1	Xq26	2008-02-05			ENSG00000165359	ENSG00000165359		"DEAD-boxes"	27334	protein-coding gene	gene with protein product							Standard	NM_182540		Approved	FLJ41215	uc004eyw.4	Q5JSJ4	OTTHUMG00000022484	ENST00000370752.4:c.1654G>A	X.37:g.134709032G>A	ENSP00000359788:p.Ala552Thr					DDX26B_ENST00000493637.1_3'UTR	p.A552T	NM_182540.4	NP_872346.3	Q5JSJ4	DX26B_HUMAN			13	1988	+	Acute lymphoblastic leukemia(192;6.56e-05)		552					Q5CZA2|Q6IPS3|Q6ZTU5|Q6ZWE4	Missense_Mutation	SNP	ENST00000370752.4	37	c.1654G>A	CCDS35401.1	.	.	.	.	.	.	.	.	.	.	G	24.7	4.564326	0.86335	.	.	ENSG00000165359	ENST00000370752	T	0.35048	1.33	5.82	2.56	0.30785	.	0.205896	0.49916	D	0.000127	T	0.40015	0.1100	L	0.47016	1.485	0.40924	D	0.984331	D;B	0.59357	0.985;0.312	P;B	0.55303	0.773;0.103	T	0.19418	-1.0306	10	0.49607	T	0.09	-7.714	6.8915	0.24232	0.0815:0.125:0.6627:0.1308	.	552;552	B9EIK3;Q5JSJ4	.;DX26B_HUMAN	T	552	ENSP00000359788:A552T	ENSP00000359788:A552T	A	+	1	0	DDX26B	134536698	1.000000	0.71417	0.783000	0.31826	0.988000	0.76386	6.663000	0.74431	0.567000	0.29293	0.594000	0.82650	GCA		0.413	DDX26B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058420.1	NM_182540		3	58	0	0	0	1	0	3	58					A	134709032	G	A	134709032	3	1	235	1	0	0	0	0	1	0	0	0	4353	1319	46	3	1704	3	DDX26B	23	134709032	Missense_Mutation	SNP	G	TCGA-HC-8262-01A-11D-2260-08		134709032	20561528	49	10957											
MAGEA6	4105	broad.mit.edu	37	chrX	151869832	151869832	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagtggaccccatcggccaCgtgtacatctttgccacctg	8	9	10	14	2	1	0	0	0	1	0	2	2	1	1	5	2	2	1	5	2	2	2			TCGA-HC-8262-01A-11D-2260-08	TCGA-HC-8262-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e584de7a-84e8-4844-baec-3e5c0e6fbb9d	557d13df-5e0a-415f-847d-60d0b16f88c0	g.chrX:151869832C>T	ENST00000329342.5	+	3	747	c.522C>T	c.(520-522)caC>caT	p.H174H		NM_005363.2	NP_005354.1	P43360	MAGA6_HUMAN	melanoma antigen family A, 6	174	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.							p.H174H(1)		breast(1)|endometrium(3)|large_intestine(3)|lung(16)|prostate(3)|skin(1)|urinary_tract(1)	28	Acute lymphoblastic leukemia(192;6.56e-05)					CCATCGGCCACGTGTACATCT	0.532																																						ENST00000329342.5																			1	Substitution - coding silent(1)	p.H174H(1)	prostate(1)	breast(1)|endometrium(3)|large_intestine(3)|lung(16)|prostate(3)|skin(1)|urinary_tract(1)	28						c.(520-522)caC>caT		melanoma antigen family A, 6							126	113	118					X																	151869832		2203	4299	6502	SO:0001819	synonymous_variant	4105						protein binding	g.chrX:151869832C>T		CCDS76050.1	Xq28	2009-03-13			ENSG00000197172	ENSG00000197172			6804	protein-coding gene	gene with protein product	"MAGE-6 antigen", "melanoma-associated antigen 6", "melanoma antigen family A 6", "cancer/testis antigen family 1, member 6"	300176		MAGE6		8575766	Standard	NM_005363		Approved	CT1.6	uc004ffq.1	P43360	OTTHUMG00000022642	ENST00000329342.5:c.522C>T	X.37:g.151869832C>T							p.H174H	NM_005363.2	NP_005354.1	P43360	MAGA6_HUMAN			3	747	+	Acute lymphoblastic leukemia(192;6.56e-05)		174			MAGE.		A8IF93|Q6NW44	Silent	SNP	ENST00000329342.5	37	c.522C>T	CCDS14708.1																																																																																				0.532	MAGEA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058747.2	NM_005363		3	60	0	0	0	1	0	3	60					T	151869832	C	T	151869832	2	4	235	1	0	0	0	0	0	0	0	1	9170	535	19	1		1	MAGEA6	23	151869832	Silent	SNP	C	TCGA-HC-8262-01A-11D-2260-08	17160800	151869832	3400728	50	10958											
KIF2C	11004	broad.mit.edu	37	chr1	45225999	45225999	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caattcctcccgctcccacgCgtgcttccaaattattcttc	7	13	4	17	3	1	0	0	0	1	0	6	0	5	0	4	0	1	2	4	0	3	5	rs150935880		TCGA-HC-8264-01B-11D-2395-08	TCGA-HC-8264-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80ed0e60-9bf6-4407-9f9c-108672829690	50901c39-beb1-4a69-a21b-7ea825f55510	g.chr1:45225999C>T	ENST00000372224.4	+	15	1528	c.1415C>T	c.(1414-1416)gCg>gTg	p.A472V	KIF2C_ENST00000372217.1_Missense_Mutation_p.A418V|RP11-269F19.2_ENST00000440985.1_RNA|KIF2C_ENST00000372218.4_Missense_Mutation_p.A431V|RP11-269F19.2_ENST00000428791.1_RNA|KIF2C_ENST00000372222.3_Missense_Mutation_p.A359V	NM_006845.3	NP_006836.2	Q99661	KIF2C_HUMAN	kinesin family member 2C	472	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cell proliferation (GO:0008283)|chromosome segregation (GO:0007059)|establishment or maintenance of microtubule cytoskeleton polarity (GO:0030951)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|regulation of chromosome segregation (GO:0051983)	chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|centromeric DNA binding (GO:0019237)|microtubule motor activity (GO:0003777)|microtubule plus-end binding (GO:0051010)			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|ovary(1)|skin(1)|urinary_tract(1)	34	Acute lymphoblastic leukemia(166;0.155)					CGCTCCCACGCGTGCTTCCAA	0.527																																						ENST00000372217.1																			0				breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|ovary(1)|skin(1)|urinary_tract(1)	34						c.(1252-1254)gCg>gTg		kinesin family member 2C		C	VAL/ALA	2,4404	4.2+/-10.8	0,2,2201	68	68	68		1415	5.4	1	1	dbSNP_134	68	0,8600		0,0,4300	yes	missense	KIF2C	NM_006845.3	64	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	probably-damaging	472/726	45225999	2,13004	2203	4300	6503	SO:0001583	missense	11004				blood coagulation|cell division|cell proliferation|chromosome segregation|establishment or maintenance of microtubule cytoskeleton polarity|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|kinesin complex|microtubule|nucleus	ATP binding|centromeric DNA binding|microtubule motor activity|microtubule plus-end binding	g.chr1:45225999C>T	U63743	CCDS512.1, CCDS72774.1	1p34.1	2014-01-21	2003-01-13	2003-01-17	ENSG00000142945	ENSG00000142945		"Kinesins"	6393	protein-coding gene	gene with protein product		604538	"kinesin-like 6 (mitotic centromere-associated kinesin)"	KNSL6		9434124	Standard	NM_006845		Approved	MCAK, CT139	uc001cmg.4	Q99661	OTTHUMG00000008416	ENST00000372224.4:c.1415C>T	1.37:g.45225999C>T	ENSP00000361298:p.Ala472Val					KIF2C_ENST00000372222.3_Missense_Mutation_p.A359V|KIF2C_ENST00000372224.4_Missense_Mutation_p.A472V|KIF2C_ENST00000372218.4_Missense_Mutation_p.A431V|RP11-269F19.2_ENST00000428791.1_RNA|RP11-269F19.2_ENST00000440985.1_RNA	p.A418V			Q99661	KIF2C_HUMAN			14	1604	+	Acute lymphoblastic leukemia(166;0.155)		472			Kinesin-motor.		B3ITR9|Q5JR88|Q6ICU1|Q96C18|Q96HB8|Q9BWV8	Missense_Mutation	SNP	ENST00000372224.4	37	c.1253C>T	CCDS512.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.948777	0.73787	4.54E-4	0.0	ENSG00000142945	ENST00000372224;ENST00000372218;ENST00000372222;ENST00000372217	T;T;T;T	0.19105	2.17;2.17;2.17;2.17	5.43	5.43	0.79202	Kinesin, motor domain (5);	0.000000	0.85682	D	0.000000	T	0.59155	0.2173	M	0.92649	3.33	0.80722	D	1	D;D;D	0.89917	0.999;1.0;0.999	D;D;D	0.87578	0.998;0.996;0.998	T	0.69109	-0.5232	10	0.87932	D	0	.	19.6058	0.95582	0.0:1.0:0.0:0.0	.	431;418;472	B7Z6Q6;Q99661-2;Q99661	.;.;KIF2C_HUMAN	V	472;431;359;418	ENSP00000361298:A472V;ENSP00000361292:A431V;ENSP00000361296:A359V;ENSP00000361291:A418V	ENSP00000361291:A418V	A	+	2	0	KIF2C	44998586	1.000000	0.71417	0.999000	0.59377	0.011000	0.07611	7.776000	0.85560	2.722000	0.93159	0.655000	0.94253	GCG		0.527	KIF2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023180.1	NM_006845		20	49	0	0	0	1	0	20	49					T	45225999	C	T	45225999	3	4	236	1	0	0	0	0	1	0	0	0	8299	768	27	1	1473	1	KIF2C	1	45225999	Missense_Mutation	SNP	C	TCGA-HC-8264-01B-11D-2395-08		45225999	204024622	1	10959											
ADAM30	11085	broad.mit.edu	37	chr1	120438879	120438879	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggtgaaaaattacatcttcGccaagagacttaaggagcat	15	9	10	7	1	1	2	0	1	1	1	2	4	1	3	1	2	2	1	1	2	5	3	rs200819018		TCGA-HC-8264-01B-11D-2395-08	TCGA-HC-8264-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80ed0e60-9bf6-4407-9f9c-108672829690	50901c39-beb1-4a69-a21b-7ea825f55510	g.chr1:120438879G>A	ENST00000369400.1	-	1	239	c.81C>T	c.(79-81)ggC>ggT	p.G27G		NM_021794.3	NP_068566.2	Q9UKF2	ADA30_HUMAN	ADAM metallopeptidase domain 30	27					binding of sperm to zona pellucida (GO:0007339)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(16)|ovary(2)|skin(2)	38	all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234)	all_lung(203;1.55e-06)|Lung NSC(69;1.04e-05)|all_epithelial(167;0.00138)		Lung(183;0.0204)|LUSC - Lung squamous cell carcinoma(189;0.117)		TTACATCTTCGCCAAGAGACT	0.512													G|||	1	0.000199681	0	0	5008	,	,		19095	0.001		0	False		,,,				2504	0					ENST00000369400.1																			0				NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(16)|ovary(2)|skin(2)	38						c.(79-81)ggC>ggT		ADAM metallopeptidase domain 30							56	56	56					1																	120438879		2203	4300	6503	SO:0001819	synonymous_variant	11085				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding	g.chr1:120438879G>A	AF171932	CCDS907.1	1p12	2012-05-16	2005-08-18		ENSG00000134249	ENSG00000134249		"ADAM metallopeptidase domain containing"	208	protein-coding gene	gene with protein product		604779	"a disintegrin and metalloproteinase domain 30"				Standard	NM_021794		Approved	svph4	uc001eij.3	Q9UKF2	OTTHUMG00000012176	ENST00000369400.1:c.81C>T	1.37:g.120438879G>A							p.G27G	NM_021794.3	NP_068566.2	Q9UKF2	ADA30_HUMAN		Lung(183;0.0204)|LUSC - Lung squamous cell carcinoma(189;0.117)	1	239	-	all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234)	all_lung(203;1.55e-06)|Lung NSC(69;1.04e-05)|all_epithelial(167;0.00138)	27					A8K8W8|Q5T3X6|Q9UKF1	Silent	SNP	ENST00000369400.1	37	c.81C>T	CCDS907.1																																																																																				0.512	ADAM30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033678.1	NM_021794		19	40	0	0	0	1	0	19	40					A	120438879	G	A	120438879	2	1	236	1	0	0	0	0	0	0	0	1	248	1074	38	1		1	ADAM30	1	120438879	Silent	SNP	G	TCGA-HC-8264-01B-11D-2395-08	75212880	120438879	128811742	2	10960											
KCNN3	3782	broad.mit.edu	37	chr1	154744824	154744824	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtacaggatgcgctcgtaggTcatggctatccgccagtcat	8	10	12	11	3	2	0	2	0	0	0	4	1	3	1	2	3	2	4	2	3	3	3			TCGA-HC-8264-01B-11D-2395-08	TCGA-HC-8264-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80ed0e60-9bf6-4407-9f9c-108672829690	50901c39-beb1-4a69-a21b-7ea825f55510	g.chr1:154744824T>C	ENST00000271915.4	-	3	1390	c.1075A>G	c.(1075-1077)Acc>Gcc	p.T359A	KCNN3_ENST00000361147.4_Missense_Mutation_p.T54A|KCNN3_ENST00000358505.2_Missense_Mutation_p.T46A	NM_001204087.1|NM_002249.5	NP_001191016.1|NP_002240.3	Q9UGI6	KCNN3_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3	364					potassium ion transmembrane transport (GO:0071805)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	calmodulin binding (GO:0005516)|small conductance calcium-activated potassium channel activity (GO:0016286)			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(11)|prostate(4)|skin(1)	28	all_lung(78;2.29e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.108)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00819)		Miconazole(DB01110)|Procaine(DB00721)	CGCTCGTAGGTCATGGCTATC	0.592																																						ENST00000271915.3																			0				cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(11)|prostate(4)|skin(1)	28						c.(1075-1077)Acc>Gcc		potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3							50	45	47					1																	154744824		2203	4300	6503	SO:0001583	missense	3782					integral to membrane	calmodulin binding	g.chr1:154744824T>C	AF031815	CCDS1072.1, CCDS30880.1, CCDS72928.1	1q21.3	2012-07-05			ENSG00000143603	ENSG00000143603		"Potassium channels", "Voltage-gated ion channels / Potassium channels, calcium-activated"	6292	protein-coding gene	gene with protein product		602983				9491810, 16382103	Standard	NM_002249		Approved	KCa2.3, hSK3, SKCA3	uc021pah.1	Q9UGI6	OTTHUMG00000037260	ENST00000271915.4:c.1075A>G	1.37:g.154744824T>C	ENSP00000271915:p.Thr359Ala					KCNN3_ENST00000358505.2_Missense_Mutation_p.T46A|KCNN3_ENST00000361147.4_Missense_Mutation_p.T54A	p.T359A	NM_002249.5	NP_002240.3	Q9UGI6	KCNN3_HUMAN	BRCA - Breast invasive adenocarcinoma(34;0.00819)		3	1390	-	all_lung(78;2.29e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.108)|all_neural(408;0.245)		364					B1ANX0|O43517|Q86VF9|Q8WXG7	Missense_Mutation	SNP	ENST00000271915.4	37	c.1075A>G	CCDS30880.1	.	.	.	.	.	.	.	.	.	.	T	24.9	4.582186	0.86748	.	.	ENSG00000143603	ENST00000361147;ENST00000271915;ENST00000358505	D;D;D	0.98987	-5.3;-4.09;-5.26	4.69	4.69	0.59074	Potassium channel, calcium-activated, SK, conserved region (1);	0.000000	0.56097	D	0.000027	D	0.99321	0.9762	M	0.90483	3.12	0.54753	D	0.999986	D;D;P	0.76494	0.999;0.992;0.929	D;D;P	0.83275	0.996;0.989;0.792	D	0.98979	1.0804	10	0.87932	D	0	-33.9045	13.994	0.64386	0.0:0.0:0.0:1.0	.	365;364;54	Q6JXY2;Q9UGI6;Q9UGI6-2	.;KCNN3_HUMAN;.	A	54;359;46	ENSP00000354764:T54A;ENSP00000271915:T359A;ENSP00000351295:T46A	ENSP00000271915:T359A	T	-	1	0	KCNN3	153011448	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.864000	0.87037	1.956000	0.56807	0.459000	0.35465	ACC		0.592	KCNN3-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090688.3	NM_002249		9	30	0	0	0	1	0	9	30					C	154744824	T	C	154744824	3	2	236	1	0	0	0	0	1	0	0	0	8080	1667	58	4	1144	4	KCNN3	1	154744824	Missense_Mutation	SNP	T	TCGA-HC-8264-01B-11D-2395-08	34305945	154744824	94505797	3	10961											
KIF26B	55083	broad.mit.edu	37	chr1	245850131	245850131	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcttccatcagctcctggctGagcgagatgagcgcgggcag	7	8	14	12	3	2	3	1	2	1	1	4	4	4	3	2	2	3	3	2	2	0	1			TCGA-HC-8264-01B-11D-2395-08	TCGA-HC-8264-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80ed0e60-9bf6-4407-9f9c-108672829690	50901c39-beb1-4a69-a21b-7ea825f55510	g.chr1:245850131G>A	ENST00000407071.2	+	12	4286	c.3846G>A	c.(3844-3846)ctG>ctA	p.L1282L	KIF26B_ENST00000366518.4_Silent_p.L901L	NM_018012.3	NP_060482.2	Q2KJY2	KI26B_HUMAN	kinesin family member 26B	1282					establishment of cell polarity (GO:0030010)|metabolic process (GO:0008152)|positive regulation of cell-cell adhesion (GO:0022409)|ureteric bud invasion (GO:0072092)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		OV - Ovarian serous cystadenocarcinoma(106;0.022)			GCTCCTGGCTGAGCGAGATGA	0.612																																						ENST00000366518.4																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51						c.(2701-2703)ctG>ctA		kinesin family member 26B							34	41	38					1																	245850131		2137	4231	6368	SO:0001819	synonymous_variant	55083				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr1:245850131G>A	AK001019	CCDS44342.1	1q44	2008-02-05			ENSG00000162849	ENSG00000162849		"Kinesins"	25484	protein-coding gene	gene with protein product		614026					Standard	NM_018012		Approved	FLJ10157	uc001ibf.1	Q2KJY2	OTTHUMG00000040079	ENST00000407071.2:c.3846G>A	1.37:g.245850131G>A						KIF26B_ENST00000407071.2_Silent_p.L1282L	p.L901L			Q2KJY2	KI26B_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.022)		9	2807	+	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		1282					Q6ZQR9|Q6ZUZ0|Q8IUN3|Q8IVR1|Q9NWB4	Silent	SNP	ENST00000407071.2	37	c.2703G>A	CCDS44342.1																																																																																				0.612	KIF26B-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381037.1	XM_371354		12	35	0	0	0	1	0	12	35					A	245850131	G	A	245850131	2	1	236	1	0	0	0	0	0	0	0	1	8295	1277	45	3		3	KIF26B	1	245850131	Silent	SNP	G	TCGA-HC-8264-01B-11D-2395-08	91105307	245850131	3400490	4	10962											
TANC1	85461	broad.mit.edu	37	chr2	160035657	160035657	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagacggggaaaacacggcCttcctgtgtgagcccaggta	10	6	14	11	2	0	2	0	1	0	1	1	3	1	3	3	4	2	2	3	4	3	2			TCGA-HC-8264-01B-11D-2395-08	TCGA-HC-8264-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80ed0e60-9bf6-4407-9f9c-108672829690	50901c39-beb1-4a69-a21b-7ea825f55510	g.chr2:160035657C>G	ENST00000263635.6	+	14	2730	c.2493C>G	c.(2491-2493)gcC>gcG	p.A831A	TANC1_ENST00000454300.1_Silent_p.A725A	NM_001145909.1|NM_033394.2	NP_001139381.1|NP_203752.2	Q9C0D5	TANC1_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1	831					dendritic spine maintenance (GO:0097062)|myoblast fusion (GO:0007520)|visual learning (GO:0008542)	axon terminus (GO:0043679)|cell junction (GO:0030054)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)				breast(3)|central_nervous_system(4)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(25)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	77						AAAACACGGCCTTCCTGTGTG	0.537																																						ENST00000263635.6																			0				breast(3)|central_nervous_system(4)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(25)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	77						c.(2491-2493)gcC>gcG		tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1							62	64	64					2																	160035657		1935	4133	6068	SO:0001819	synonymous_variant	85461					cell junction|postsynaptic density|postsynaptic membrane	binding	g.chr2:160035657C>G	AB051515	CCDS42766.1	2q24.2	2013-01-11			ENSG00000115183	ENSG00000115183		"Ankyrin repeat domain containing", "Tetratricopeptide (TTC) repeat domain containing"	29364	protein-coding gene	gene with protein product	"rolling pebbles homolog B (Drosophila)"	611397				15673434	Standard	NM_033394		Approved	KIAA1728, ROLSB	uc002uag.3	Q9C0D5	OTTHUMG00000153945	ENST00000263635.6:c.2493C>G	2.37:g.160035657C>G						TANC1_ENST00000454300.1_Silent_p.A725A	p.A831A	NM_001145909.1|NM_033394.2	NP_001139381.1|NP_203752.2	Q9C0D5	TANC1_HUMAN			14	2730	+			831					C9JD88|Q49AI8	Silent	SNP	ENST00000263635.6	37	c.2493C>G	CCDS42766.1																																																																																				0.537	TANC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333135.1			46	77	0	0	0	1	0	46	77					G	160035657	C	G	160035657	2	3	236	1	0	0	0	0	0	0	0	1	15541	668	24	5		5	TANC1	2	160035657	Silent	SNP	C	TCGA-HC-8264-01B-11D-2395-08		160035657	83163716	5	10963											
CNTN6	27255	broad.mit.edu	37	chr3	1418725	1418725	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	agtaaacatccatggaggtgGaggaagtcggtctgaactcg	12	8	14	7	2	1	1	0	1	1	0	4	4	2	4	1	5	2	1	1	5	4	1			TCGA-HC-8264-01B-11D-2395-08	TCGA-HC-8264-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80ed0e60-9bf6-4407-9f9c-108672829690	50901c39-beb1-4a69-a21b-7ea825f55510	g.chr3:1418725G>A	ENST00000446702.2	+	17	2759	c.2132G>A	c.(2131-2133)gGa>gAa	p.G711E	CNTN6_ENST00000539053.1_Missense_Mutation_p.G639E|CNTN6_ENST00000350110.2_Missense_Mutation_p.G711E			Q9UQ52	CNTN6_HUMAN	contactin 6	711	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|central nervous system development (GO:0007417)|Notch signaling pathway (GO:0007219)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		all_cancers(2;0.000164)|all_epithelial(2;0.107)		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)		CATGGAGGTGGAGGAAGTCGG	0.398																																						ENST00000446702.2																			0				breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90						c.(2131-2133)gGa>gAa		contactin 6							197	187	190					3																	1418725		2203	4300	6503	SO:0001583	missense	27255				axon guidance|cell adhesion|central nervous system development|Notch signaling pathway	anchored to membrane|plasma membrane		g.chr3:1418725G>A	AB003592	CCDS2557.1	3p26-p25	2013-02-11			ENSG00000134115	ENSG00000134115		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	2176	protein-coding gene	gene with protein product	"neural adhesion molecule"	607220				9486763	Standard	NM_014461		Approved	NB-3	uc003bpa.3	Q9UQ52	OTTHUMG00000119030	ENST00000446702.2:c.2132G>A	3.37:g.1418725G>A	ENSP00000407822:p.Gly711Glu					CNTN6_ENST00000350110.2_Missense_Mutation_p.G711E|CNTN6_ENST00000539053.1_Missense_Mutation_p.G639E	p.G711E			Q9UQ52	CNTN6_HUMAN		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)	17	2759	+		all_cancers(2;0.000164)|all_epithelial(2;0.107)	711			Fibronectin type-III 2.		Q2KHM2	Missense_Mutation	SNP	ENST00000446702.2	37	c.2132G>A	CCDS2557.1	.	.	.	.	.	.	.	.	.	.	G	28.3	4.911263	0.92178	.	.	ENSG00000134115	ENST00000446702;ENST00000539053;ENST00000350110	T;T;T	0.52754	0.65;0.65;0.65	5.76	5.76	0.90799	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000019	T	0.79862	0.4519	H	0.95151	3.63	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.85326	0.1087	10	0.87932	D	0	.	19.9759	0.97304	0.0:0.0:1.0:0.0	.	711	Q9UQ52	CNTN6_HUMAN	E	711;639;711	ENSP00000407822:G711E;ENSP00000442791:G639E;ENSP00000341882:G711E	ENSP00000341882:G711E	G	+	2	0	CNTN6	1393725	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.086000	0.94088	2.713000	0.92767	0.655000	0.94253	GGA		0.398	CNTN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239235.2	NM_014461		23	59	0	0	0	1	0	23	59					A	1418725	G	A	1418725	3	1	236	1	0	0	0	0	1	0	0	0	3645	1174	41	3	2194	3	CNTN6	3	1418725	Missense_Mutation	SNP	G	TCGA-HC-8264-01B-11D-2395-08		1418725	196603705	6	10964											
CAMK1	8536	broad.mit.edu	37	chr3	9799263	9799263	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgggggacagttctgtgcccGgctccacgcagcagtctcga	6	8	14	13	3	2	0	0	0	2	0	4	2	3	1	2	3	2	4	2	3	0	1			TCGA-HC-8264-01B-11D-2395-08	TCGA-HC-8264-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80ed0e60-9bf6-4407-9f9c-108672829690	50901c39-beb1-4a69-a21b-7ea825f55510	g.chr3:9799263G>A	ENST00000256460.3	-	12	1250	c.1073C>T	c.(1072-1074)cCg>cTg	p.P358L	OGG1_ENST00000383826.5_Intron|OGG1_ENST00000449570.2_Intron|OGG1_ENST00000302008.8_Intron|OGG1_ENST00000302036.7_Intron|OGG1_ENST00000349503.5_Intron	NM_003656.4	NP_003647.1	Q14012	KCC1A_HUMAN	calcium/calmodulin-dependent protein kinase I	358					cell cycle (GO:0007049)|nucleocytoplasmic transport (GO:0006913)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of synapse structural plasticity (GO:0051835)|protein phosphorylation (GO:0006468)|regulation of muscle cell differentiation (GO:0051147)|regulation of protein binding (GO:0043393)|regulation of protein localization (GO:0032880)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)			endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1)	12	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.0475)		TTCTGTGCCCGGCTCCACGCA	0.692																																						ENST00000256460.3																			0				endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1)	12						c.(1072-1074)cCg>cTg		calcium/calmodulin-dependent protein kinase I							37	42	40					3																	9799263		2203	4300	6503	SO:0001583	missense	8536				cell differentiation|nervous system development|positive regulation of muscle cell differentiation|signal transduction	cytoplasm|nucleus	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity	g.chr3:9799263G>A	L41816	CCDS2582.1	3p25.3	2004-02-27			ENSG00000134072	ENSG00000134072			1459	protein-coding gene	gene with protein product		604998				7641687	Standard	NM_003656		Approved	CaMKI	uc003bst.3	Q14012	OTTHUMG00000128419	ENST00000256460.3:c.1073C>T	3.37:g.9799263G>A	ENSP00000256460:p.Pro358Leu					OGG1_ENST00000349503.5_Intron|OGG1_ENST00000449570.2_Intron|OGG1_ENST00000302008.8_Intron|OGG1_ENST00000383826.5_Intron|OGG1_ENST00000302036.7_Intron	p.P358L	NM_003656.4	NP_003647.1	Q14012	KCC1A_HUMAN		OV - Ovarian serous cystadenocarcinoma(96;0.0475)	12	1250	-	Medulloblastoma(99;0.227)		358					Q3KPF6	Missense_Mutation	SNP	ENST00000256460.3	37	c.1073C>T	CCDS2582.1	.	.	.	.	.	.	.	.	.	.	G	14.35	2.509896	0.44660	.	.	ENSG00000134072	ENST00000256460;ENST00000421120	T	0.65916	-0.18	4.74	3.82	0.43975	.	0.397901	0.25375	N	0.031124	T	0.39809	0.1092	N	0.08118	0	0.41047	D	0.985276	B	0.26120	0.142	B	0.19946	0.027	T	0.39014	-0.9634	10	0.72032	D	0.01	-16.0741	9.9453	0.41604	0.0:0.0:0.6306:0.3694	.	358	Q14012	KCC1A_HUMAN	L	358;240	ENSP00000256460:P358L	ENSP00000256460:P358L	P	-	2	0	CAMK1	9774263	0.980000	0.34600	0.840000	0.33206	0.360000	0.29518	2.224000	0.42945	1.267000	0.44247	0.655000	0.94253	CCG		0.692	CAMK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250206.1	NM_003656		7	102	0	0	0	1	0	7	102					A	9799263	G	A	9799263	3	1	236	1	0	0	0	0	1	0	0	0	2596	1116	39	2	43	2	CAMK1	3	9799263	Missense_Mutation	SNP	G	TCGA-HC-8264-01B-11D-2395-08	8380538	9799263	188223167	7	10965											
VGLL4	9686	broad.mit.edu	37	chr3	11744471	11744471	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtcatcagcatgcaccagaGatgctgccctggacaaaaca	13	6	9	13	1	2	1	2	0	0	1	2	3	2	2	2	1	5	3	2	1	2	0			TCGA-HC-8264-01B-11D-2395-08	TCGA-HC-8264-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80ed0e60-9bf6-4407-9f9c-108672829690	50901c39-beb1-4a69-a21b-7ea825f55510	g.chr3:11744471G>T	ENST00000273038.3	-	2	403	c.38C>A	c.(37-39)tCt>tAt	p.S13Y	VGLL4_ENST00000404339.1_5'UTR	NM_001284391.1|NM_014667.2	NP_001271320.1|NP_055482.2	Q14135	VGLL4_HUMAN	vestigial-like family member 4	13					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)		p.S13F(1)		NS(1)|endometrium(1)|large_intestine(1)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10				LUSC - Lung squamous cell carcinoma(1;0.089)|Lung(1;0.111)		ATGCACCAGAGATGCTGCCCT	0.373																																						ENST00000273038.3																			1	Substitution - Missense(1)	p.S13F(1)	upper_aerodigestive_tract(1)	NS(1)|endometrium(1)|large_intestine(1)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10						c.(37-39)tCt>tAt		vestigial like 4 (Drosophila)							62	63	62					3																	11744471		2203	4300	6503	SO:0001583	missense	9686				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chr3:11744471G>T	D50911	CCDS2606.1, CCDS46754.1, CCDS46755.1, CCDS46756.1, CCDS68342.1, CCDS68343.1	3p25.2	2014-03-03	2014-03-03		ENSG00000144560	ENSG00000144560			28966	protein-coding gene	gene with protein product			"vestigial like 4 (Drosophila)"			8590280, 15140898	Standard	NM_001284390		Approved	KIAA0121	uc010hdx.1	Q14135	OTTHUMG00000129739	ENST00000273038.3:c.38C>A	3.37:g.11744471G>T	ENSP00000273038:p.Ser13Tyr					VGLL4_ENST00000404339.1_5'UTR	p.S13Y	NM_014667.2	NP_055482.2	Q14135	VGLL4_HUMAN		LUSC - Lung squamous cell carcinoma(1;0.089)|Lung(1;0.111)	2	403	-			13					B4DTS7|J3KN68|Q7L5V0|Q9BQ78	Missense_Mutation	SNP	ENST00000273038.3	37	c.38C>A	CCDS2606.1	.	.	.	.	.	.	.	.	.	.	G	10.71	1.425993	0.25726	.	.	ENSG00000144560	ENST00000273038;ENST00000445411;ENST00000418000;ENST00000417206;ENST00000419541	T;T;T;T;T	0.48836	0.8;0.8;0.8;0.8;0.8	5.28	4.38	0.52667	.	0.476618	0.21407	N	0.075049	T	0.55353	0.1915	L	0.34521	1.04	0.58432	D	0.999999	D	0.64830	0.994	D	0.67900	0.954	T	0.58020	-0.7710	10	0.87932	D	0	.	11.9948	0.53196	0.0:0.1746:0.8254:0.0	.	13	Q14135	VGLL4_HUMAN	Y	13	ENSP00000273038:S13Y;ENSP00000412923:S13Y;ENSP00000394439:S13Y;ENSP00000391932:S13Y;ENSP00000395557:S13Y	ENSP00000273038:S13Y	S	-	2	0	VGLL4	11719471	1.000000	0.71417	0.298000	0.25002	0.990000	0.78478	6.827000	0.75303	1.304000	0.44892	0.462000	0.41574	TCT		0.373	VGLL4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251950.2	NM_014667		3	18	1	0	0.115264	1	0.115264	3	18					T	11744471	G	T	11744471	3	4	236	1	0	0	0	0	1	0	0	0	17158	942	33	5	964	5	VGLL4	3	11744471	Missense_Mutation	SNP	G	TCGA-HC-8264-01B-11D-2395-08	1945208	11744471	186277959	8	10966											
ARPP21	10777	broad.mit.edu	37	chr3	35763246	35763246	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcccgccatgaccaagacggCgagttttgggggcatcacgg	8	6	15	12	4	1	2	1	1	0	1	1	3	1	2	3	4	0	2	3	4	1	2	rs199754646	byFrequency	TCGA-HC-8264-01B-11D-2395-08	TCGA-HC-8264-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80ed0e60-9bf6-4407-9f9c-108672829690	50901c39-beb1-4a69-a21b-7ea825f55510	g.chr3:35763246C>T	ENST00000187397.4	+	14	1601	c.1145C>T	c.(1144-1146)gCg>gTg	p.A382V	ARPP21_ENST00000458225.1_Missense_Mutation_p.A348V|ARPP21_ENST00000337271.5_Missense_Mutation_p.A328V|ARPP21_ENST00000444190.1_Missense_Mutation_p.A328V|ARPP21_ENST00000417925.1_Missense_Mutation_p.A348V	NM_016300.4	NP_057384.2	Q9UBL0	ARP21_HUMAN	cAMP-regulated phosphoprotein, 21kDa	382	Ser-rich.				cellular response to heat (GO:0034605)	cytoplasm (GO:0005737)	nucleic acid binding (GO:0003676)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	61						ACCAAGACGGCGAGTTTTGGG	0.537													C|||	2	0.000399361	8e-04	0	5008	,	,		19702	0.001		0	False		,,,				2504	0					ENST00000187397.4																			0				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	61						c.(1144-1146)gCg>gTg		cAMP-regulated phosphoprotein, 21kDa							48	40	42					3																	35763246		2203	4300	6503	SO:0001583	missense	10777					cytoplasm	nucleic acid binding	g.chr3:35763246C>T	AA733082	CCDS2661.1, CCDS43063.1, CCDS58823.1, CCDS58824.1	3p24.3	2010-08-12			ENSG00000172995	ENSG00000172995			16968	protein-coding gene	gene with protein product	"R3H domain containing 3"	605488				8120638	Standard	NM_198399		Approved	ARPP-21, TARPP, R3HDM3	uc011axy.2	Q9UBL0	OTTHUMG00000130795	ENST00000187397.4:c.1145C>T	3.37:g.35763246C>T	ENSP00000187397:p.Ala382Val					ARPP21_ENST00000458225.1_Missense_Mutation_p.A348V|ARPP21_ENST00000444190.1_Missense_Mutation_p.A328V|ARPP21_ENST00000417925.1_Missense_Mutation_p.A348V|ARPP21_ENST00000337271.5_Missense_Mutation_p.A328V	p.A382V	NM_016300.4	NP_057384.2	Q9UBL0	ARP21_HUMAN			14	1601	+			382			Ser-rich.		B4DG96|Q49AK3|Q49AS6|Q4G0V4|Q6NYC3|Q86V31|Q9UF93	Missense_Mutation	SNP	ENST00000187397.4	37	c.1145C>T	CCDS2661.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	32	5.183850	0.94885	.	.	ENSG00000172995	ENST00000458225;ENST00000337271;ENST00000444190;ENST00000187397;ENST00000417925	T;T;T;T;T	0.23147	1.92;1.92;1.92;1.92;1.92	5.75	5.75	0.90469	.	0.289408	0.34676	N	0.003764	T	0.31263	0.0791	L	0.51422	1.61	0.43579	D	0.995918	P;P;P	0.50156	0.865;0.888;0.932	P;B;P	0.48166	0.488;0.3;0.569	T	0.01290	-1.1394	10	0.19590	T	0.45	-15.2514	15.4336	0.75125	0.0:0.8618:0.1382:0.0	.	348;382;328	Q9UBL0-3;Q9UBL0;Q9UBL0-4	.;ARP21_HUMAN;.	V	348;328;328;382;348	ENSP00000414351:A348V;ENSP00000337792:A328V;ENSP00000405276:A328V;ENSP00000187397:A382V;ENSP00000412326:A348V	ENSP00000187397:A382V	A	+	2	0	ARPP21	35738250	1.000000	0.71417	0.997000	0.53966	0.994000	0.84299	3.430000	0.52807	2.725000	0.93324	0.655000	0.94253	GCG		0.537	ARPP21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253334.2	NM_198399		6	29	0	0	0	1	0	6	29					T	35763246	C	T	35763246	3	4	236	1	0	0	0	0	1	0	0	0	978	768	27	1	1204	1	ARPP21	3	35763246	Missense_Mutation	SNP	C	TCGA-HC-8264-01B-11D-2395-08	24018775	35763246	162259184	9	10967											
EPHB1	2047	broad.mit.edu	37	chr3	134967232	134967232	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gctgctctacaccagctcatGctggactgttggcagaagga	9	9	12	11	0	2	1	1	0	1	1	2	3	2	3	1	3	4	6	1	3	2	2			TCGA-HC-8264-01B-11D-2395-08	TCGA-HC-8264-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80ed0e60-9bf6-4407-9f9c-108672829690	50901c39-beb1-4a69-a21b-7ea825f55510	g.chr3:134967232G>T	ENST00000398015.3	+	14	2941	c.2571G>T	c.(2569-2571)atG>atT	p.M857I	EPHB1_ENST00000493838.1_Missense_Mutation_p.M418I	NM_004441.4	NP_004432.1	P54762	EPHB1_HUMAN	EPH receptor B1	857	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|camera-type eye morphogenesis (GO:0048593)|cell chemotaxis (GO:0060326)|cell-substrate adhesion (GO:0031589)|central nervous system projection neuron axonogenesis (GO:0021952)|dendritic spine development (GO:0060996)|dendritic spine morphogenesis (GO:0060997)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|ephrin receptor signaling pathway (GO:0048013)|establishment of cell polarity (GO:0030010)|neural precursor cell proliferation (GO:0061351)|neurogenesis (GO:0022008)|optic nerve morphogenesis (GO:0021631)|positive regulation of synapse assembly (GO:0051965)|protein autophosphorylation (GO:0046777)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of JNK cascade (GO:0046328)|retinal ganglion cell axon guidance (GO:0031290)	axon (GO:0030424)|early endosome membrane (GO:0031901)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|transmembrane-ephrin receptor activity (GO:0005005)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						ACCAGCTCATGCTGGACTGTT	0.577																																						ENST00000398015.3																			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						c.(2569-2571)atG>atT		EPH receptor B1							58	63	61					3																	134967232		2203	4300	6503	SO:0001583	missense	2047					integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding	g.chr3:134967232G>T	L40636	CCDS46921.1	3q21-q23	2013-02-11	2004-10-28			ENSG00000154928		"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3392	protein-coding gene	gene with protein product		600600	"EphB1"	EPHT2		8666391	Standard	NM_004441		Approved	Hek6	uc003eqt.3	P54762		ENST00000398015.3:c.2571G>T	3.37:g.134967232G>T	ENSP00000381097:p.Met857Ile					EPHB1_ENST00000493838.1_Missense_Mutation_p.M418I	p.M857I	NM_004441.4	NP_004432.1	P54762	EPHB1_HUMAN			14	2941	+			857			Protein kinase.		A8K593|B3KTB2|B5A969|O43569|O95142|O95143|Q0VG87	Missense_Mutation	SNP	ENST00000398015.3	37	c.2571G>T	CCDS46921.1	.	.	.	.	.	.	.	.	.	.	G	36	5.650094	0.96714	.	.	ENSG00000154928	ENST00000398015;ENST00000493838	D;D	0.85773	-2.03;-2.03	5.65	5.65	0.86999	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.89602	0.6762	L	0.38838	1.175	0.80722	D	1	D	0.58620	0.983	D	0.73380	0.98	D	0.89864	0.4018	10	0.87932	D	0	.	19.9142	0.97043	0.0:0.0:1.0:0.0	.	857	P54762	EPHB1_HUMAN	I	857;418	ENSP00000381097:M857I;ENSP00000419574:M418I	ENSP00000381097:M857I	M	+	3	0	EPHB1	136449922	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.601000	0.98297	2.941000	0.99782	0.655000	0.94253	ATG		0.577	EPHB1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357671.1	NM_004441		37	76	1	0	7.53189e-24	1	8.15955e-24	37	76					T	134967232	G	T	134967232	3	4	236	1	0	0	0	0	1	0	0	0	5174	1319	46	5	2625	5	EPHB1	3	134967232	Missense_Mutation	SNP	G	TCGA-HC-8264-01B-11D-2395-08	99203986	134967232	63055198	10	10968											
WDR19	57728	broad.mit.edu	37	chr4	39230260	39230260	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctcagcaacttaaaagatacGgggcctgacgaactgagacc	14	6	10	11	2	1	3	1	2	0	2	1	5	1	3	2	2	4	1	2	2	5	2			TCGA-HC-8264-01B-11D-2395-08	TCGA-HC-8264-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80ed0e60-9bf6-4407-9f9c-108672829690	50901c39-beb1-4a69-a21b-7ea825f55510	g.chr4:39230260G>T	ENST00000399820.3	+	17	2086	c.1932G>T	c.(1930-1932)acG>acT	p.T644T	WDR19_ENST00000288634.7_Silent_p.T484T|WDR19_ENST00000515631.1_3'UTR	NM_025132.3	NP_079408.3	Q8NEZ3	WDR19_HUMAN	WD repeat domain 19	644					ciliary receptor clustering involved in smoothened signaling pathway (GO:0060830)|cilium assembly (GO:0042384)|digestive system development (GO:0055123)|ear morphogenesis (GO:0042471)|embryonic camera-type eye development (GO:0031076)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic limb morphogenesis (GO:0030326)|in utero embryonic development (GO:0001701)|intraciliary retrograde transport (GO:0035721)|myotome development (GO:0061055)|neurological system process (GO:0050877)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|intraciliary transport particle A (GO:0030991)|motile cilium (GO:0031514)|nonmotile primary cilium (GO:0031513)|photoreceptor connecting cilium (GO:0032391)				large_intestine(1)	1						TAAAAGATACGGGGCCTGACG	0.423																																						ENST00000399820.3																			0				large_intestine(1)	1						c.(1930-1932)acG>acT		WD repeat domain 19							134	127	129					4																	39230260		1885	4106	5991	SO:0001819	synonymous_variant	57728				cell projection organization	microtubule basal body|motile cilium|photoreceptor connecting cilium	binding	g.chr4:39230260G>T	AB046858, AY029257	CCDS47042.1	4p14	2014-02-21			ENSG00000157796	ENSG00000157796		"WD repeat domain containing", "Intraflagellar transport homologs"	18340	protein-coding gene	gene with protein product	"intraflagellar transport 144 homolog (Chlamydomonas)"	608151				12906858, 22019273	Standard	XM_005262658		Approved	Pwdmp, KIAA1638, FLJ23127, ORF26, DYF-2, Oseg6, IFT144, NPHP13	uc003gtv.3	Q8NEZ3	OTTHUMG00000160466	ENST00000399820.3:c.1932G>T	4.37:g.39230260G>T						WDR19_ENST00000515631.1_3'UTR|WDR19_ENST00000288634.7_Silent_p.T484T	p.T644T	NM_025132.3	NP_079408.3	Q8NEZ3	WDR19_HUMAN			17	2086	+			644					B5MEF2|Q8N5B4|Q9H5S0|Q9HCD4	Silent	SNP	ENST00000399820.3	37	c.1932G>T	CCDS47042.1																																																																																				0.423	WDR19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360689.1			6	79	1	0	2.0095e-06	1	2.10673e-06	6	79					T	39230260	G	T	39230260	2	4	236	1	0	0	0	0	0	0	0	1	17276	1103	39	5		5	WDR19	4	39230260	Silent	SNP	G	TCGA-HC-8264-01B-11D-2395-08		39230260	151924016	11	10969											
UGT2B15	7366	broad.mit.edu	37	chr4	69536088	69536088	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agagaatcttccaaataattTttagttaaagatgtaggata	17	14	7	3	0	1	2	0	0	1	2	2	4	2	3	1	1	0	2	1	1	8	8			TCGA-HC-8264-01B-11D-2395-08	TCGA-HC-8264-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80ed0e60-9bf6-4407-9f9c-108672829690	50901c39-beb1-4a69-a21b-7ea825f55510	g.chr4:69536088T>A	ENST00000338206.5	-	1	258	c.249A>T	c.(247-249)aaA>aaT	p.K83N		NM_001076.3	NP_001067.2	P54855	UDB15_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B15	83					cellular glucuronidation (GO:0052695)|steroid metabolic process (GO:0008202)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)									Acetaminophen(DB00316)|Dabigatran etexilate(DB06695)|Ezetimibe(DB00973)|Lorazepam(DB00186)|Morphine(DB00295)|Oxazepam(DB00842)|Valproic Acid(DB00313)	CCAAATAATTTTTAGTTAAAG	0.308																																						ENST00000338206.5																			0											c.(247-249)aaA>aaT		UDP glucuronosyltransferase 2 family, polypeptide B15							78	92	87					4																	69536088		2199	4297	6496	SO:0001583	missense	7366				steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	g.chr4:69536088T>A	AF180322	CCDS3524.1	4q13	2008-02-05	2005-07-20		ENSG00000196620	ENSG00000196620		"UDP glucuronosyltransferases"	12546	protein-coding gene	gene with protein product		600069	"UDP glycosyltransferase 2 family, polypeptide B15"			7835904	Standard	NM_001076		Approved	UGT2B8	uc021xow.1	P54855	OTTHUMG00000161507	ENST00000338206.5:c.249A>T	4.37:g.69536088T>A	ENSP00000341045:p.Lys83Asn						p.K83N	NM_001076.3	NP_001067.2	P54855	UDB15_HUMAN			1	258	-			83					A6NDX0|A6NNJ4|A8K054|P23765|Q9UK63	Missense_Mutation	SNP	ENST00000338206.5	37	c.249A>T	CCDS3524.1	.	.	.	.	.	.	.	.	.	.	t	12.60	1.985671	0.35036	.	.	ENSG00000196620	ENST00000338206	T	0.61510	0.1	2.58	2.58	0.30949	.	0.747569	0.11660	U	0.541959	T	0.56761	0.2007	L	0.56769	1.78	0.09310	N	1	B	0.31153	0.31	B	0.38921	0.285	T	0.54262	-0.8320	10	0.56958	D	0.05	.	8.6201	0.33855	0.0:0.0:0.0:1.0	.	83	P54855	UDB15_HUMAN	N	83	ENSP00000341045:K83N	ENSP00000341045:K83N	K	-	3	2	UGT2B15	69218683	0.000000	0.05858	0.001000	0.08648	0.318000	0.28184	-0.219000	0.09228	1.163000	0.42636	0.363000	0.22086	AAA		0.308	UGT2B15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365172.1	NM_001076		31	81	0	0	0	1	0	31	81					A	69536088	T	A	69536088	3	1	236	1	0	0	0	0	1	0	0	0	16955	1838	64	5	2984	5	UGT2B15	4	69536088	Missense_Mutation	SNP	T	TCGA-HC-8264-01B-11D-2395-08	30305828	69536088	121618188	12	10970											
DCHS2	54798	broad.mit.edu	37	chr4	155241971	155241971	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cattgaagacatacaccaggGttcctatgggaacattctcc	12	10	8	11	0	1	2	0	1	1	1	3	3	2	3	3	2	2	1	3	2	4	5			TCGA-HC-8264-01B-11D-2395-08	TCGA-HC-8264-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80ed0e60-9bf6-4407-9f9c-108672829690	50901c39-beb1-4a69-a21b-7ea825f55510	g.chr4:155241971G>A	ENST00000357232.4	-	14	3214	c.3215C>T	c.(3214-3216)aCc>aTc	p.T1072I		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	1072	Cadherin 9. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		ATACACCAGGGTTCCTATGGG	0.428																																						ENST00000357232.3																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176						c.(3214-3216)aCc>aTc		dachsous cadherin-related 2							196	202	200					4																	155241971		2203	4300	6503	SO:0001583	missense	54798				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:155241971G>A	BC140919	CCDS3785.1, CCDS47150.1	4q32.1	2014-06-04	2013-10-04	2004-09-03		ENSG00000197410		"Cadherins / Cadherin-related"	23111	protein-coding gene	gene with protein product	"cadherin-related family member 7"	612486	"cadherin-like 27", "dachsous 2 (Drosophila)"	CDH27, PCDH23		15003449	Standard	NM_017639		Approved	CDHJ, FLJ20047, PCDHJ, CDHR7	uc003inw.2	Q6V1P9		ENST00000357232.4:c.3215C>T	4.37:g.155241971G>A	ENSP00000349768:p.Thr1072Ile						p.T1072I	NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN		LUSC - Lung squamous cell carcinoma(193;0.107)	14	3214	-	all_hematologic(180;0.208)	Renal(120;0.0854)	1072			Cadherin 9.		B2RU14|E9PC11|Q4W5P9|Q6ZS61|Q9NXU8	Missense_Mutation	SNP	ENST00000357232.4	37	c.3215C>T	CCDS3785.1	.	.	.	.	.	.	.	.	.	.	G	19.05	3.751597	0.69533	.	.	ENSG00000197410	ENST00000357232	T	0.58210	0.35	5.69	5.69	0.88448	Cadherin (3);Cadherin-like (1);	0.080701	0.50627	D	0.000106	T	0.78723	0.4328	M	0.90425	3.115	0.80722	D	1	D	0.76494	0.999	D	0.73708	0.981	T	0.80859	-0.1194	10	0.49607	T	0.09	.	19.8145	0.96560	0.0:0.0:1.0:0.0	.	1072	Q6V1P9	PCD23_HUMAN	I	1072	ENSP00000349768:T1072I	ENSP00000349768:T1072I	T	-	2	0	DCHS2	155461421	1.000000	0.71417	0.046000	0.18839	0.630000	0.37929	9.476000	0.97823	2.683000	0.91414	0.563000	0.77884	ACC		0.428	DCHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365281.2	NM_001142552		30	56	0	0	0	1	0	30	56					A	155241971	G	A	155241971	3	1	236	1	0	0	0	0	1	0	0	0	4288	1261	44	3	5583	3	DCHS2	4	155241971	Missense_Mutation	SNP	G	TCGA-HC-8264-01B-11D-2395-08	85705883	155241971	35912305	13	10971											
GCNT4	51301	broad.mit.edu	37	chr5	74325284	74325284	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atgtgggcatattccacagcCtctaatttggaagcaatgaa	13	11	9	8	0	1	1	0	1	1	0	2	2	2	2	2	2	2	2	2	2	5	4			TCGA-HC-8264-01B-11D-2395-08	TCGA-HC-8264-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80ed0e60-9bf6-4407-9f9c-108672829690	50901c39-beb1-4a69-a21b-7ea825f55510	g.chr5:74325284C>T	ENST00000322348.4	-	1	1440	c.579G>A	c.(577-579)gaG>gaA	p.E193E		NM_016591.2	NP_057675.1	Q9P109	GCNT4_HUMAN	glucosaminyl (N-acetyl) transferase 4, core 2	193					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|homeostasis of number of cells (GO:0048872)|inter-male aggressive behavior (GO:0002121)|kidney morphogenesis (GO:0060993)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein O-linked glycosylation (GO:0006493)|thyroid hormone metabolic process (GO:0042403)|tissue morphogenesis (GO:0048729)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity (GO:0003829)|N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity (GO:0008109)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|ovary(2)|skin(1)|stomach(2)	19		all_lung(232;0.0131)|Lung NSC(167;0.0282)|Ovarian(174;0.0798)		OV - Ovarian serous cystadenocarcinoma(47;8.44e-57)		ATTCCACAGCCTCTAATTTGG	0.398																																						ENST00000322348.4																			0				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|ovary(2)|skin(1)|stomach(2)	19						c.(577-579)gaG>gaA		glucosaminyl (N-acetyl) transferase 4, core 2							94	97	96					5																	74325284		2203	4300	6503	SO:0001819	synonymous_variant	51301				protein O-linked glycosylation	Golgi membrane|integral to membrane	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity|N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity	g.chr5:74325284C>T	AF132035	CCDS4026.1	5q12	2013-02-25	2010-03-16		ENSG00000176928	ENSG00000176928	2.4.1.102	"Glucosaminyl (N-acetyl) transferase and xylosyltransferase family"	17973	protein-coding gene	gene with protein product	"core 2 beta-1,6-N-acetylglucosaminyltransferase 3", "beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase 4"		"glucosaminyl (N-acetyl) transferase 4, core 2 (beta-1,6-N-acetylglucosaminyltransferase)"			10753916	Standard	NM_016591		Approved	C2GNT3	uc003kdn.3	Q9P109	OTTHUMG00000131272	ENST00000322348.4:c.579G>A	5.37:g.74325284C>T							p.E193E	NM_016591.2	NP_057675.1	Q9P109	GCNT4_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;8.44e-57)	1	1440	-		all_lung(232;0.0131)|Lung NSC(167;0.0282)|Ovarian(174;0.0798)	193						Silent	SNP	ENST00000322348.4	37	c.579G>A	CCDS4026.1																																																																																				0.398	GCNT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254040.1	NM_016591		22	62	0	0	0	1	0	22	62					T	74325284	C	T	74325284	2	4	236	1	0	0	0	0	0	0	0	1	6303	680	24	3		3	GCNT4	5	74325284	Silent	SNP	C	TCGA-HC-8264-01B-11D-2395-08		74325284	106589976	14	10972											
DST	667	broad.mit.edu	37	chr6	56426236	56426236	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgattcttcctgagcctttTgcaatttggagagtttagtg	7	18	10	6	0	1	3	0	2	1	1	2	4	2	3	2	1	2	2	2	1	2	8			TCGA-HC-8264-01B-11D-2395-08	TCGA-HC-8264-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80ed0e60-9bf6-4407-9f9c-108672829690	50901c39-beb1-4a69-a21b-7ea825f55510	g.chr6:56426236T>C	ENST00000361203.3	-	53	13554	c.13547A>G	c.(13546-13548)cAa>cGa	p.Q4516R	DST_ENST00000446842.2_Missense_Mutation_p.Q4192R|DST_ENST00000421834.2_Missense_Mutation_p.Q2430R|DST_ENST00000370754.5_Missense_Mutation_p.Q4696R|DST_ENST00000370788.2_Missense_Mutation_p.Q2430R|DST_ENST00000244364.6_Missense_Mutation_p.Q2104R|DST_ENST00000370769.4_Missense_Mutation_p.Q4518R|DST_ENST00000312431.6_3'UTR			Q03001	DYST_HUMAN	dystonin	4516					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			CTGAGCCTTTTGCAATTTGGA	0.398																																						ENST00000370754.5																			0				NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105						c.(14086-14088)cAa>cGa		dystonin							221	194	202					6																	56426236		1892	4115	6007	SO:0001583	missense	667				cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity	g.chr6:56426236T>C	M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"EF-hand domain containing"	1090	protein-coding gene	gene with protein product		113810	"bullous pemphigoid antigen 1, 230/240kDa"	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000361203.3:c.13547A>G	6.37:g.56426236T>C	ENSP00000354508:p.Gln4516Arg					DST_ENST00000446842.2_Missense_Mutation_p.Q4192R|DST_ENST00000370788.2_Missense_Mutation_p.Q2430R|DST_ENST00000421834.2_Missense_Mutation_p.Q2430R|DST_ENST00000370769.4_Missense_Mutation_p.Q4518R|DST_ENST00000244364.6_Missense_Mutation_p.Q2104R|DST_ENST00000361203.3_Missense_Mutation_p.Q4516R|DST_ENST00000312431.6_3'UTR	p.Q4696R			Q03001	DYST_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)		57	14086	-	Lung NSC(77;0.103)		4516					B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Missense_Mutation	SNP	ENST00000361203.3	37	c.14087A>G		.	.	.	.	.	.	.	.	.	.	T	20.6	4.020871	0.75275	.	.	ENSG00000151914	ENST00000244364;ENST00000370754;ENST00000370769;ENST00000421834;ENST00000446842;ENST00000370788;ENST00000361203	T;T;T;T;T;T;T	0.54866	0.55;0.55;0.55;0.55;0.55;0.55;0.55	6.17	6.17	0.99709	.	0.000000	0.50627	D	0.000118	T	0.56731	0.2005	L	0.57536	1.79	0.23260	N	0.998023	D;P;P;P;B	0.64830	0.994;0.952;0.952;0.565;0.033	D;P;D;B;B	0.76575	0.988;0.879;0.915;0.341;0.033	T	0.54820	-0.8236	9	0.09843	T	0.71	.	16.8222	0.85835	0.0:0.0:0.0:1.0	.	2430;4518;4696;4516;2104	Q5TBT1;E7ERU2;E9PEB9;Q03001;Q03001-8	.;.;.;DYST_HUMAN;.	R	2104;4696;4518;2430;4192;2430;4516	ENSP00000244364:Q2104R;ENSP00000359790:Q4696R;ENSP00000359805:Q4518R;ENSP00000400883:Q2430R;ENSP00000393645:Q4192R;ENSP00000359824:Q2430R;ENSP00000354508:Q4516R	ENSP00000244364:Q2104R	Q	-	2	0	DST	56534195	1.000000	0.71417	0.994000	0.49952	0.993000	0.82548	4.186000	0.58337	2.371000	0.80710	0.533000	0.62120	CAA		0.398	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000041021.3	NM_001723		4	46	0	0	0	1	0	4	46					C	56426236	T	C	56426236	3	2	236	1	0	0	0	0	1	0	0	0	4783	1812	63	4	9392	4	DST	6	56426236	Missense_Mutation	SNP	T	TCGA-HC-8264-01B-11D-2395-08		56426236	114688831	15	10973											
TAAR5	9038	broad.mit.edu	37	chr6	132910431	132910431	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtcacagatggcacagtggCggtcaatggaaatgaaacag	14	6	14	7	1	2	2	2	1	0	1	2	3	2	3	0	5	1	1	0	5	3	0			TCGA-HC-8264-01B-11D-2395-08	TCGA-HC-8264-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80ed0e60-9bf6-4407-9f9c-108672829690	50901c39-beb1-4a69-a21b-7ea825f55510	g.chr6:132910431C>T	ENST00000258034.2	-	1	446	c.395G>A	c.(394-396)cGc>cAc	p.R132H		NM_003967.2	NP_003958.2	O14804	TAAR5_HUMAN	trace amine associated receptor 5	132					G-protein coupled receptor signaling pathway (GO:0007186)|sensory perception of chemical stimulus (GO:0007606)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)|trimethylamine receptor activity (GO:1990081)			breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	32	Breast(56;0.112)			OV - Ovarian serous cystadenocarcinoma(155;0.00604)|GBM - Glioblastoma multiforme(226;0.015)		GGCACAGTGGCGGTCAATGGA	0.582																																						ENST00000258034.2																			0				breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	32						c.(394-396)cGc>cAc		trace amine associated receptor 5							100	109	106					6																	132910431		2203	4300	6503	SO:0001583	missense	9038				synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity	g.chr6:132910431C>T	AF021818	CCDS5156.1	6q23.2	2012-08-08			ENSG00000135569	ENSG00000135569		"GPCR / Class A : Trace amine associated receptors"	30236	protein-coding gene	gene with protein product		607405				9464258, 15718104	Standard	NM_003967		Approved	PNR	uc003qdk.2	O14804	OTTHUMG00000015581	ENST00000258034.2:c.395G>A	6.37:g.132910431C>T	ENSP00000258034:p.Arg132His						p.R132H	NM_003967.2	NP_003958.2	O14804	TAAR5_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.00604)|GBM - Glioblastoma multiforme(226;0.015)	1	446	-	Breast(56;0.112)		132					D8KZS1|Q2M1V1|Q4VBL1|Q5VUQ3|Q6NTA8	Missense_Mutation	SNP	ENST00000258034.2	37	c.395G>A	CCDS5156.1	.	.	.	.	.	.	.	.	.	.	C	17.37	3.373402	0.61624	.	.	ENSG00000135569	ENST00000258034	D	0.97161	-4.27	5.58	4.72	0.59763	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000009	D	0.98798	0.9595	H	0.99565	4.63	0.47862	D	0.999536	D	0.60160	0.987	P	0.54401	0.751	D	0.98855	1.0760	10	0.87932	D	0	-16.1638	14.574	0.68232	0.0:0.9306:0.0:0.0694	.	132	O14804	TAAR5_HUMAN	H	132	ENSP00000258034:R132H	ENSP00000258034:R132H	R	-	2	0	TAAR5	132952124	1.000000	0.71417	0.998000	0.56505	0.992000	0.81027	5.860000	0.69546	1.605000	0.50152	-0.136000	0.14681	CGC		0.582	TAAR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042257.1	NM_003967		33	99	0	0	0	1	0	33	99					T	132910431	C	T	132910431	3	4	236	1	0	0	0	0	1	0	0	0	15488	768	27	1	622	1	TAAR5	6	132910431	Missense_Mutation	SNP	C	TCGA-HC-8264-01B-11D-2395-08	76484195	132910431	38204636	16	10974											
FNDC1	84624	broad.mit.edu	37	chr6	159654482	159654482	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	accgccacgcgtcccctgctCgtccgcccgcagcacggtca	5	5	10	21	7	1	0	1	0	0	0	4	0	3	0	6	1	2	3	6	1	0	0			TCGA-HC-8264-01B-11D-2395-08	TCGA-HC-8264-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80ed0e60-9bf6-4407-9f9c-108672829690	50901c39-beb1-4a69-a21b-7ea825f55510	g.chr6:159654482C>T	ENST00000297267.9	+	11	3138	c.2938C>T	c.(2938-2940)Cgt>Tgt	p.R980C	FNDC1_ENST00000340366.6_Missense_Mutation_p.R917C	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	980					cellular response to hypoxia (GO:0071456)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of protein phosphorylation (GO:0001934)|regulation of protein transport (GO:0051223)	cell-cell junction (GO:0005911)|extracellular region (GO:0005576)|mitochondrial membrane (GO:0031966)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		GTCCCCTGCTCGTCCGCCCGC	0.662																																						ENST00000297267.9																			0				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93						c.(2938-2940)Cgt>Tgt		fibronectin type III domain containing 1							32	39	37					6																	159654482		2192	4286	6478	SO:0001583	missense	84624					extracellular region		g.chr6:159654482C>T	AB058769	CCDS47512.1	6q25	2013-02-11			ENSG00000164694	ENSG00000164694		"Fibronectin type III domain containing"	21184	protein-coding gene	gene with protein product		609991	"fibronectin type III domain containing 2"	FNDC2		11347906	Standard	NM_032532		Approved	bA243O10.1, KIAA1866, dJ322A24.1	uc010kjv.3	Q4ZHG4	OTTHUMG00000015927	ENST00000297267.9:c.2938C>T	6.37:g.159654482C>T	ENSP00000297267:p.Arg980Cys					FNDC1_ENST00000340366.6_Missense_Mutation_p.R917C	p.R980C	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)	11	3138	+		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)	980					A6H8X2|B7ZBR4|B7ZBR5|B9EK49|Q5JPI0|Q5VU31|Q5VU32|Q5VXX4|Q70CQ6|Q96JG1	Missense_Mutation	SNP	ENST00000297267.9	37	c.2938C>T	CCDS47512.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.50|11.50	1.658719|1.658719	0.29515|0.29515	.|.	.|.	ENSG00000164694|ENSG00000164694	ENST00000297267;ENST00000340366|ENST00000329629	T;T|.	0.09630|.	2.96;3.76|.	3.2|3.2	0.0303|0.0303	0.14166|0.14166	.|.	1.131530|.	0.06576|.	N|.	0.749466|.	T|T	0.18676|0.18676	0.0448|0.0448	L|L	0.29908|0.29908	0.895|0.895	0.80722|0.80722	P|P	0.0|0.0	D;D|.	0.76494|.	0.999;0.999|.	P;P|.	0.56343|.	0.796;0.63|.	T|T	0.12578|0.12578	-1.0542|-1.0542	9|4	0.38643|.	T|.	0.18|.	-0.0179|-0.0179	8.6672|8.6672	0.34127|0.34127	0.6271:0.3729:0.0:0.0|0.6271:0.3729:0.0:0.0	.|.	917;980|.	Q4ZHG4-2;Q4ZHG4|.	.;FNDC1_HUMAN|.	C|L	980;917|875	ENSP00000297267:R980C;ENSP00000342460:R917C|.	ENSP00000297267:R980C|.	R|S	+|+	1|2	0|0	FNDC1|FNDC1	159574472|159574472	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.022000|0.022000	0.10575|0.10575	0.300000|0.300000	0.19156|0.19156	-0.006000|-0.006000	0.14370|0.14370	0.555000|0.555000	0.69702|0.69702	CGT|TCG		0.662	FNDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042897.3	NM_032532		8	24	0	0	0	1	0	8	24					T	159654482	C	T	159654482	3	4	236	1	0	0	0	0	1	0	0	0	5968	884	31	2	2980	2	FNDC1	6	159654482	Missense_Mutation	SNP	C	TCGA-HC-8264-01B-11D-2395-08	26744051	159654482	11460585	17	10975											
BAI1	575	broad.mit.edu	37	chr8	143614732	143614732	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cggctgtgctcgccgtcaccGaccgccgctccgccctcttc	2	8	10	21	7	2	0	1	0	1	0	5	1	3	0	6	1	1	3	6	1	0	1			TCGA-HC-8264-01B-11D-2395-08	TCGA-HC-8264-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80ed0e60-9bf6-4407-9f9c-108672829690	50901c39-beb1-4a69-a21b-7ea825f55510	g.chr8:143614732G>A	ENST00000517894.1	+	25	4369	c.3475G>A	c.(3475-3477)Gac>Aac	p.D1159N	BAI1_ENST00000323289.5_Missense_Mutation_p.D1159N			O14514	BAI1_HUMAN	brain-specific angiogenesis inhibitor 1	1159					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell proliferation (GO:0008285)|neuropeptide signaling pathway (GO:0007218)|peripheral nervous system development (GO:0007422)|signal transduction (GO:0007165)	cell-cell junction (GO:0005911)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(28)|ovary(4)|pancreas(1)|prostate(7)	57	all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					CGCCGTCACCGACCGCCGCTC	0.657																																						ENST00000517894.1																			0				NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(28)|ovary(4)|pancreas(1)|prostate(7)	57						c.(3475-3477)Gac>Aac		brain-specific angiogenesis inhibitor 1							21	29	26					8																	143614732		2198	4296	6494	SO:0001583	missense	575				axonogenesis|cell adhesion|negative regulation of angiogenesis|negative regulation of cell proliferation|neuropeptide signaling pathway|peripheral nervous system development	cell-cell junction|integral to plasma membrane	G-protein coupled receptor activity|protein binding	g.chr8:143614732G>A	AB005297	CCDS64985.1	8q24.3	2014-08-08			ENSG00000181790	ENSG00000181790		"-", "GPCR / Class B : Orphans"	943	protein-coding gene	gene with protein product		602682				9533023	Standard	NM_001702		Approved		uc003ywm.3	O14514	OTTHUMG00000164732	ENST00000517894.1:c.3475G>A	8.37:g.143614732G>A	ENSP00000430945:p.Asp1159Asn					BAI1_ENST00000323289.5_Missense_Mutation_p.D1159N	p.D1159N			O14514	BAI1_HUMAN			25	4369	+	all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)		1159						Missense_Mutation	SNP	ENST00000517894.1	37	c.3475G>A		.	.	.	.	.	.	.	.	.	.	G	29.0	4.970485	0.92919	.	.	ENSG00000181790	ENST00000517894;ENST00000323289	T;T	0.44083	0.93;0.93	4.56	4.56	0.56223	.	0.000000	0.85682	U	0.000000	T	0.48466	0.1501	N	0.20845	0.615	0.58432	D	0.999999	D	0.89917	1.0	D	0.85130	0.997	T	0.41288	-0.9517	10	0.23302	T	0.38	.	16.6935	0.85328	0.0:0.0:1.0:0.0	.	1159	E9PBK0	.	N	1159	ENSP00000430945:D1159N;ENSP00000313046:D1159N	ENSP00000313046:D1159N	D	+	1	0	BAI1	143611734	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.484000	0.97940	2.236000	0.73375	0.655000	0.94253	GAC		0.657	BAI1-001	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000379963.3	NM_001702		10	32	0	0	0	1	0	10	32					A	143614732	G	A	143614732	3	1	236	1	0	0	0	0	1	0	0	0	1298	1058	37	2	3569	2	BAI1	8	143614732	Missense_Mutation	SNP	G	TCGA-HC-8264-01B-11D-2395-08		143614732	2749290	18	10976											
ELOVL3	83401	broad.mit.edu	37	chr10	103988611	103988611	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccttcatcatcctgcgtaagCggccactcatctttattcac	8	13	5	15	2	5	0	4	0	1	0	6	0	6	0	3	1	2	1	3	1	2	5	rs199876592		TCGA-HC-8264-01B-11D-2395-08	TCGA-HC-8264-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80ed0e60-9bf6-4407-9f9c-108672829690	50901c39-beb1-4a69-a21b-7ea825f55510	g.chr10:103988611C>T	ENST00000370005.3	+	4	636	c.415C>T	c.(415-417)Cgg>Tgg	p.R139W		NM_152310.1	NP_689523.1	Q9HB03	ELOV3_HUMAN	ELOVL fatty acid elongase 3	139					cellular lipid metabolic process (GO:0044255)|fatty acid elongation, monounsaturated fatty acid (GO:0034625)|fatty acid elongation, polyunsaturated fatty acid (GO:0034626)|fatty acid elongation, saturated fatty acid (GO:0019367)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|very long-chain fatty acid biosynthetic process (GO:0042761)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	transferase activity (GO:0016740)	p.R139W(1)		breast(2)|lung(10)|ovary(2)|prostate(1)|skin(1)	16		Colorectal(252;0.207)		Epithelial(162;4.47e-08)|all cancers(201;7.96e-07)		CCTGCGTAAGCGGCCACTCAT	0.537																																						ENST00000370005.3																			1	Substitution - Missense(1)	p.R139W(1)	lung(1)	breast(2)|lung(10)|ovary(2)|prostate(1)|skin(1)	16						c.(415-417)Cgg>Tgg		ELOVL fatty acid elongase 3							141	132	135					10																	103988611		2203	4300	6503	SO:0001583	missense	83401				fatty acid elongation, monounsaturated fatty acid|fatty acid elongation, polyunsaturated fatty acid|fatty acid elongation, saturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	fatty acid elongase activity|protein binding	g.chr10:103988611C>T	AF292387	CCDS7531.1	10q24	2011-05-25	2011-05-25		ENSG00000119915	ENSG00000119915			18047	protein-coding gene	gene with protein product		611815	"elongation of very long chain fatty acids (FEN1/Elo2, SUR4/Elo3, yeast)-like 3"				Standard	NM_152310		Approved	CIG-30	uc001kut.3	Q9HB03	OTTHUMG00000018951	ENST00000370005.3:c.415C>T	10.37:g.103988611C>T	ENSP00000359022:p.Arg139Trp						p.R139W	NM_152310.1	NP_689523.1	Q9HB03	ELOV3_HUMAN		Epithelial(162;4.47e-08)|all cancers(201;7.96e-07)	4	636	+		Colorectal(252;0.207)	139					Q5VZL3|Q8N180	Missense_Mutation	SNP	ENST00000370005.3	37	c.415C>T	CCDS7531.1	.	.	.	.	.	.	.	.	.	.	C	25.8	4.670501	0.88348	.	.	ENSG00000119915	ENST00000370005	T	0.25414	1.8	5.24	4.33	0.51752	.	0.120655	0.38111	N	0.001807	T	0.54775	0.1879	M	0.86740	2.835	0.47994	D	0.999562	D	0.89917	1.0	D	0.81914	0.995	T	0.62969	-0.6741	10	0.87932	D	0	-8.7231	12.8124	0.57647	0.0:0.9196:0.0:0.0804	.	139	Q9HB03	ELOV3_HUMAN	W	139	ENSP00000359022:R139W	ENSP00000359022:R139W	R	+	1	2	ELOVL3	103978601	1.000000	0.71417	0.993000	0.49108	0.995000	0.86356	4.082000	0.57635	1.193000	0.43086	0.561000	0.74099	CGG		0.537	ELOVL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050030.1	NM_152310		36	91	0	0	0	1	0	36	91					T	103988611	C	T	103988611	3	4	236	1	0	0	0	0	1	0	0	0	5075	759	27	1	429	1	ELOVL3	10	103988611	Missense_Mutation	SNP	C	TCGA-HC-8264-01B-11D-2395-08		103988611	31546136	19	10977											
IKZF5	64376	broad.mit.edu	37	chr10	124755532	124755532	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgtggattctgatgtgttcAataagccgggctgttccttt	6	16	12	7	1	2	1	1	1	1	0	3	2	3	2	2	2	1	3	2	2	2	5			TCGA-HC-8264-01B-11D-2395-08	TCGA-HC-8264-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80ed0e60-9bf6-4407-9f9c-108672829690	50901c39-beb1-4a69-a21b-7ea825f55510	g.chr10:124755532A>C	ENST00000368886.5	-	4	614	c.294T>G	c.(292-294)atT>atG	p.I98M	PSTK_ENST00000497219.1_Intron|IKZF5_ENST00000479103.1_5'Flank	NM_001271840.1	NP_001258769.1	Q9H5V7	IKZF5_HUMAN	IKAROS family zinc finger 5 (Pegasus)	98					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(2)|lung(3)|prostate(1)	6		all_neural(114;0.169)|Colorectal(57;0.178)|Glioma(114;0.222)		Colorectal(40;0.0701)|COAD - Colon adenocarcinoma(40;0.0754)		TGATGTGTTCAATAAGCCGGG	0.483																																						ENST00000368886.5																			0				endometrium(2)|lung(3)|prostate(1)	6						c.(292-294)atT>atG		IKAROS family zinc finger 5 (Pegasus)							145	144	144					10																	124755532		1890	4109	5999	SO:0001583	missense	64376				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr10:124755532A>C	AF230808	CCDS41574.1	10q26	2011-05-31	2006-08-25	2006-08-25	ENSG00000095574	ENSG00000095574		"Zinc fingers, C2H2-type", "IKAROS zinc fingers"	14283	protein-coding gene	gene with protein product		606238	"zinc finger protein, subfamily 1A, 5", "zinc finger protein, subfamily 1A, 5 (Pegasus)"	ZNFN1A5		10978333	Standard	NM_001271840		Approved	Pegasus, FLJ22973	uc021qaj.2	Q9H5V7	OTTHUMG00000019192	ENST00000368886.5:c.294T>G	10.37:g.124755532A>C	ENSP00000357881:p.Ile98Met					PSTK_ENST00000497219.1_Intron	p.I98M	NM_001271840.1	NP_001258769.1	Q9H5V7	IKZF5_HUMAN		Colorectal(40;0.0701)|COAD - Colon adenocarcinoma(40;0.0754)	4	614	-		all_neural(114;0.169)|Colorectal(57;0.178)|Glioma(114;0.222)	98					B3KVH7|D3DRE7|Q9H2T0	Missense_Mutation	SNP	ENST00000368886.5	37	c.294T>G	CCDS41574.1	.	.	.	.	.	.	.	.	.	.	A	16.36	3.101021	0.56183	.	.	ENSG00000095574	ENST00000368886	T	0.35973	1.28	5.87	-9.06	0.00727	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.044474	0.85682	D	0.000000	T	0.35038	0.0918	L	0.27975	0.815	0.43029	D	0.994599	D	0.89917	1.0	D	0.91635	0.999	T	0.62728	-0.6793	10	0.26408	T	0.33	-14.4248	13.6332	0.62206	0.2228:0.0:0.6433:0.1339	.	98	Q9H5V7	IKZF5_HUMAN	M	98	ENSP00000357881:I98M	ENSP00000357881:I98M	I	-	3	3	IKZF5	124745522	0.059000	0.20769	0.747000	0.31113	0.989000	0.77384	-0.714000	0.05002	-1.326000	0.02266	-0.290000	0.09829	ATT		0.483	IKZF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050820.2	NM_022466		5	80	0	0	0	1	0	5	80					C	124755532	A	C	124755532	3	2	236	1	0	0	0	0	1	0	0	0	7618	126	5	5	973	5	IKZF5	10	124755532	Missense_Mutation	SNP	A	TCGA-HC-8264-01B-11D-2395-08	20766921	124755532	10779215	20	10978											
CKAP5	9793	broad.mit.edu	37	chr11	46772926	46772926	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tttaatttgcataaggtgtgTagcagggtctttagggtcct	8	16	12	5	0	1	0	0	0	1	0	2	0	2	0	1	3	2	3	1	3	4	7			TCGA-HC-8264-01B-11D-2395-08	TCGA-HC-8264-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80ed0e60-9bf6-4407-9f9c-108672829690	50901c39-beb1-4a69-a21b-7ea825f55510	g.chr11:46772926T>C	ENST00000529230.1	-	39	5338	c.5292A>G	c.(5290-5292)ctA>ctG	p.L1764L	CKAP5_ENST00000354558.3_Silent_p.L1704L|MIR5582_ENST00000579697.1_RNA|CKAP5_ENST00000415402.1_Silent_p.L1764L|CKAP5_ENST00000312055.5_Silent_p.L1704L			Q14008	CKAP5_HUMAN	cytoskeleton associated protein 5	1764					centrosome organization (GO:0051297)|establishment or maintenance of microtubule cytoskeleton polarity (GO:0030951)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|RNA transport (GO:0050658)|spindle organization (GO:0007051)	centrosome (GO:0005813)|cytosol (GO:0005829)|membrane (GO:0016020)|protein complex (GO:0043234)|spindle pole (GO:0000922)				breast(1)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	43						ATAAGGTGTGTAGCAGGGTCT	0.428																																					Ovarian(4;85 273 2202 4844 13323)	ENST00000529230.1																			0				breast(1)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	43						c.(5290-5292)ctA>ctG		cytoskeleton associated protein 5							190	184	186					11																	46772926		2201	4299	6500	SO:0001819	synonymous_variant	9793				cell division|centrosome organization|establishment or maintenance of microtubule cytoskeleton polarity|G2/M transition of mitotic cell cycle|mitotic prometaphase|RNA transport|spindle organization	centrosome|cytosol	protein binding	g.chr11:46772926T>C		CCDS7924.1, CCDS31477.1	11p11.2	2006-09-20			ENSG00000175216	ENSG00000175216			28959	protein-coding gene	gene with protein product		611142				7788527, 8536682	Standard	NM_014756		Approved	ch-TOG, KIAA0097, TOG, TOGp	uc001ndi.2	Q14008	OTTHUMG00000166599	ENST00000529230.1:c.5292A>G	11.37:g.46772926T>C						CKAP5_ENST00000415402.1_Silent_p.L1764L|CKAP5_ENST00000312055.5_Silent_p.L1704L|CKAP5_ENST00000354558.3_Silent_p.L1704L	p.L1764L			Q14008	CKAP5_HUMAN			39	5338	-			1764					Q05D70|Q0VAX7|Q0VAX8|Q14668|Q2TA89|Q6NSH4	Silent	SNP	ENST00000529230.1	37	c.5292A>G	CCDS31477.1	.	.	.	.	.	.	.	.	.	.	T	7.686	0.690137	0.15039	.	.	ENSG00000175216	ENST00000525896	.	.	.	5.72	-1.31	0.09230	.	.	.	.	.	T	0.43299	0.1241	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.23868	-1.0176	4	.	.	.	-12.5506	4.0363	0.09731	0.1204:0.5241:0.0881:0.2674	.	.	.	.	A	3	.	.	T	-	1	0	CKAP5	46729502	0.492000	0.26027	0.974000	0.42286	0.898000	0.52572	-0.153000	0.10144	-0.558000	0.06118	-0.977000	0.02584	ACA		0.428	CKAP5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390679.1	NM_014756		37	73	0	0	0	1	0	37	73					C	46772926	T	C	46772926	2	2	236	1	0	0	0	0	0	0	0	1	3445	1625	57	4		4	CKAP5	11	46772926	Silent	SNP	T	TCGA-HC-8264-01B-11D-2395-08		46772926	88233590	21	10979											
GAB2	9846	broad.mit.edu	37	chr11	77937837	77937837	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgttgctgggcgtcttgaagGtgtacacatcctcattatct	7	15	10	9	1	3	1	1	1	2	0	4	1	4	1	1	2	2	3	1	2	3	4			TCGA-HC-8264-01B-11D-2395-08	TCGA-HC-8264-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80ed0e60-9bf6-4407-9f9c-108672829690	50901c39-beb1-4a69-a21b-7ea825f55510	g.chr11:77937837G>T	ENST00000361507.4	-	4	966	c.881C>A	c.(880-882)aCc>aAc	p.T294N	GAB2_ENST00000526030.1_5'Flank|GAB2_ENST00000340149.2_Missense_Mutation_p.T256N	NM_080491.2	NP_536739.1	Q9UQC2	GAB2_HUMAN	GRB2-associated binding protein 2	294					cell migration (GO:0016477)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|osteoclast differentiation (GO:0030316)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell proliferation (GO:0008284)|positive regulation of mast cell degranulation (GO:0043306)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)		INTS4/GAB2(2)	NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(8)|ovary(5)|skin(1)|upper_aerodigestive_tract(1)	24	all_cancers(14;3.31e-18)|all_epithelial(13;5.3e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.58e-23)			CGTCTTGAAGGTGTACACATC	0.592																																						ENST00000361507.4																		INTS4/GAB2(2)	0				NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(8)|ovary(5)|skin(1)|upper_aerodigestive_tract(1)	24						c.(880-882)aCc>aAc		GRB2-associated binding protein 2							77	69	72					11																	77937837		2200	4292	6492	SO:0001583	missense	9846				osteoclast differentiation|phosphatidylinositol-mediated signaling|positive regulation of cell proliferation|positive regulation of mast cell degranulation	cytosol|plasma membrane	phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|transmembrane receptor protein tyrosine kinase adaptor activity	g.chr11:77937837G>T	AB011143	CCDS8259.1, CCDS8260.1	11q13.4-q13.5	2013-01-10			ENSG00000033327	ENSG00000033327		"Pleckstrin homology (PH) domain containing"	14458	protein-coding gene	gene with protein product	"Grb2-associated binder 2"	606203				10391903, 10068651	Standard	NM_080491		Approved	KIAA0571	uc001ozh.3	Q9UQC2	OTTHUMG00000166673	ENST00000361507.4:c.881C>A	11.37:g.77937837G>T	ENSP00000354952:p.Thr294Asn					GAB2_ENST00000340149.2_Missense_Mutation_p.T256N	p.T294N	NM_080491.2	NP_536739.1	Q9UQC2	GAB2_HUMAN	OV - Ovarian serous cystadenocarcinoma(8;1.58e-23)		4	966	-	all_cancers(14;3.31e-18)|all_epithelial(13;5.3e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		294					A2RRM2|A6NEW9|A7MD36|O60317	Missense_Mutation	SNP	ENST00000361507.4	37	c.881C>A	CCDS8259.1	.	.	.	.	.	.	.	.	.	.	G	12.99	2.103585	0.37145	.	.	ENSG00000033327	ENST00000340149;ENST00000361507	T;T	0.17854	2.25;2.25	5.69	4.73	0.59995	.	0.154096	0.42548	U	0.000699	T	0.17916	0.0430	L	0.57536	1.79	0.48341	D	0.999634	P	0.47409	0.895	B	0.37943	0.261	T	0.02345	-1.1173	10	0.42905	T	0.14	-24.7356	14.7	0.69150	0.0:0.2653:0.7347:0.0	.	294	Q9UQC2	GAB2_HUMAN	N	256;294	ENSP00000343959:T256N;ENSP00000354952:T294N	ENSP00000343959:T256N	T	-	2	0	GAB2	77615485	1.000000	0.71417	1.000000	0.80357	0.067000	0.16453	5.042000	0.64202	2.700000	0.92200	0.561000	0.74099	ACC		0.592	GAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391085.1	NM_080491		8	79	1	0	0.000274275	1	0.000282982	8	79					T	77937837	G	T	77937837	3	4	236	1	0	0	0	0	1	0	0	0	6149	1261	44	5	1177	5	GAB2	11	77937837	Missense_Mutation	SNP	G	TCGA-HC-8264-01B-11D-2395-08	31164911	77937837	57068679	22	10980											
GUCY1A2	2977	broad.mit.edu	37	chr11	106558307	106558307	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcccggaggaacatggtgcCgatgttgtaggaaacctttt	9	11	12	9	2	0	0	0	0	0	0	1	4	1	3	3	4	3	2	3	4	3	4			TCGA-HC-8264-01B-11D-2395-08	TCGA-HC-8264-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80ed0e60-9bf6-4407-9f9c-108672829690	50901c39-beb1-4a69-a21b-7ea825f55510	g.chr11:106558307C>T	ENST00000526355.2	-	8	2635	c.2167G>A	c.(2167-2169)Ggc>Agc	p.G723S	GUCY1A2_ENST00000347596.2_Missense_Mutation_p.G744S|GUCY1A2_ENST00000282249.2_Missense_Mutation_p.G754S	NM_000855.2	NP_000846.1	P33402	GCYA2_HUMAN	guanylate cyclase 1, soluble, alpha 2	723					blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|positive regulation of cGMP biosynthetic process (GO:0030828)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|heme binding (GO:0020037)			breast(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(18)|liver(1)|lung(32)|ovary(1)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	74		all_epithelial(67;3.66e-05)|Melanoma(852;0.000382)|Acute lymphoblastic leukemia(157;0.001)|all_hematologic(158;0.0017)|Breast(348;0.026)|all_neural(303;0.068)		BRCA - Breast invasive adenocarcinoma(274;8.04e-05)|Epithelial(105;0.0036)|all cancers(92;0.0476)	Isosorbide Mononitrate(DB01020)|Nitric Oxide(DB00435)	AACATGGTGCCGATGTTGTAG	0.498																																						ENST00000526355.1																			0				breast(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(18)|liver(1)|lung(32)|ovary(1)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	74						c.(2167-2169)Ggc>Agc		guanylate cyclase 1, soluble, alpha 2							160	155	157					11																	106558307		2201	4298	6499	SO:0001583	missense	2977				intracellular signal transduction|platelet activation	cytoplasm	GTP binding|guanylate cyclase activity|heme binding	g.chr11:106558307C>T	X63282	CCDS8335.1, CCDS58170.1	11q21-q22	2008-03-18			ENSG00000152402	ENSG00000152402	4.6.1.2		4684	protein-coding gene	gene with protein product		601244		GUC1A2		1683630	Standard	NM_000855		Approved	GC-SA2	uc001pjg.2	P33402	OTTHUMG00000166296	ENST00000526355.2:c.2167G>A	11.37:g.106558307C>T	ENSP00000431245:p.Gly723Ser					GUCY1A2_ENST00000282249.2_Missense_Mutation_p.G754S|GUCY1A2_ENST00000347596.2_Missense_Mutation_p.G744S	p.G723S	NM_000855.2	NP_000846.1	P33402	GCYA2_HUMAN		BRCA - Breast invasive adenocarcinoma(274;8.04e-05)|Epithelial(105;0.0036)|all cancers(92;0.0476)	8	2635	-		all_epithelial(67;3.66e-05)|Melanoma(852;0.000382)|Acute lymphoblastic leukemia(157;0.001)|all_hematologic(158;0.0017)|Breast(348;0.026)|all_neural(303;0.068)	723					A1L4C4|B7ZLT5	Missense_Mutation	SNP	ENST00000526355.2	37	c.2167G>A	CCDS8335.1	.	.	.	.	.	.	.	.	.	.	C	29.8	5.039330	0.93630	.	.	ENSG00000152402	ENST00000526355;ENST00000282249;ENST00000347596	D;D;D	0.90133	-2.07;-2.62;-2.09	5.38	5.38	0.77491	.	0.000000	0.45867	U	0.000327	D	0.92319	0.7563	L	0.27053	0.805	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	D	0.92827	0.6277	10	0.54805	T	0.06	.	18.4699	0.90769	0.0:1.0:0.0:0.0	.	744;754;723	B7ZLT5;P33402-2;P33402	.;.;GCYA2_HUMAN	S	723;754;744	ENSP00000431245:G723S;ENSP00000282249:G754S;ENSP00000344874:G744S	ENSP00000282249:G754S	G	-	1	0	GUCY1A2	106063517	1.000000	0.71417	0.987000	0.45799	0.933000	0.57130	7.385000	0.79763	2.689000	0.91719	0.305000	0.20034	GGC		0.498	GUCY1A2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389003.2			30	73	0	0	0	1	0	30	73					T	106558307	C	T	106558307	3	4	236	1	0	0	0	0	1	0	0	0	6893	652	23	2	35	2	GUCY1A2	11	106558307	Missense_Mutation	SNP	C	TCGA-HC-8264-01B-11D-2395-08	28620470	106558307	28448209	23	10981											
CEP164	22897	broad.mit.edu	37	chr11	117241960	117241960	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtggagcaagacctggtctTccagaaaaagaggaaaatga	17	6	12	6	0	1	4	0	1	1	3	2	6	2	6	2	3	1	1	2	3	5	1			TCGA-HC-8264-01B-11D-2395-08	TCGA-HC-8264-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80ed0e60-9bf6-4407-9f9c-108672829690	50901c39-beb1-4a69-a21b-7ea825f55510	g.chr11:117241960T>C	ENST00000278935.3	+	9	1077	c.930T>C	c.(928-930)ctT>ctC	p.L310L	CEP164_ENST00000533706.1_3'UTR	NM_001271933.1|NM_014956.4	NP_001258862.1|NP_055771.4	Q9UPV0	CE164_HUMAN	centrosomal protein 164kDa	310					cilium assembly (GO:0042384)|DNA repair (GO:0006281)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary transition fiber (GO:0097539)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|nucleus (GO:0005634)				breast(3)|central_nervous_system(1)|kidney(7)|large_intestine(12)|lung(18)|ovary(3)|prostate(3)	47	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;4e-05)|Epithelial(105;0.0008)		GACCTGGTCTTCCAGAAAAAG	0.562																																						ENST00000278935.3																			0				breast(3)|central_nervous_system(1)|kidney(7)|large_intestine(12)|lung(18)|ovary(3)|prostate(3)	47						c.(928-930)ctT>ctC		centrosomal protein 164kDa							94	101	99					11																	117241960		2201	4296	6497	SO:0001819	synonymous_variant	22897				cell division|DNA repair|G2/M transition of mitotic cell cycle|mitosis	centriole|cytosol|nucleus		g.chr11:117241960T>C	AB028975	CCDS31683.1	11q23.3	2014-02-20			ENSG00000110274	ENSG00000110274			29182	protein-coding gene	gene with protein product		614848				10470851, 14654843	Standard	NM_014956		Approved	KIAA1052, NPHP15	uc001prc.3	Q9UPV0	OTTHUMG00000167070	ENST00000278935.3:c.930T>C	11.37:g.117241960T>C						CEP164_ENST00000533706.1_3'UTR	p.L310L	NM_014956.4	NP_055771.4	Q9UPV0	CE164_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4e-05)|Epithelial(105;0.0008)	9	1077	+	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)	310					Q6PKH9|Q7Z2X9|Q9NVS0|Q9UFJ6	Silent	SNP	ENST00000278935.3	37	c.930T>C	CCDS31683.1																																																																																				0.562	CEP164-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392893.1	NM_014956		51	95	0	0	0	1	0	51	95					C	117241960	T	C	117241960	2	2	236	1	0	0	0	0	0	0	0	1	3249	1770	62	4		4	CEP164	11	117241960	Silent	SNP	T	TCGA-HC-8264-01B-11D-2395-08	10683653	117241960	17764556	24	10982											
HSPA8	3312	broad.mit.edu	37	chr11	122929413	122929413	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagagacattgagtataccAttggcatcaatgtcaaaagt	15	10	9	7	0	2	2	2	1	0	1	2	3	2	2	1	1	1	3	1	1	5	4	rs199504970	byFrequency	TCGA-HC-8264-01B-11D-2395-08	TCGA-HC-8264-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80ed0e60-9bf6-4407-9f9c-108672829690	50901c39-beb1-4a69-a21b-7ea825f55510	g.chr11:122929413A>C	ENST00000532636.1	-	7	1568	c.1449T>G	c.(1447-1449)aaT>aaG	p.N483K	SNORD14C_ENST00000365382.1_RNA|HSPA8_ENST00000533540.1_Missense_Mutation_p.N337K|HSPA8_ENST00000534624.1_Missense_Mutation_p.N483K|SNORD14E_ENST00000364009.1_RNA|HSPA8_ENST00000526110.1_Missense_Mutation_p.N464K|HSPA8_ENST00000534319.1_Missense_Mutation_p.N247K|SNORD14D_ENST00000384390.1_RNA|HSPA8_ENST00000453788.2_Intron|HSPA8_ENST00000526862.1_5'Flank|HSPA8_ENST00000227378.3_Missense_Mutation_p.N483K			P11142	HSP7C_HUMAN	heat shock 70kDa protein 8	483					ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|chaperone mediated protein folding requiring cofactor (GO:0051085)|clathrin coat disassembly (GO:0072318)|gene expression (GO:0010467)|membrane organization (GO:0061024)|mRNA metabolic process (GO:0016071)|mRNA processing (GO:0006397)|negative regulation of fibril organization (GO:1902904)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotransmitter secretion (GO:0007269)|post-Golgi vesicle-mediated transport (GO:0006892)|protein folding (GO:0006457)|protein refolding (GO:0042026)|regulation of cell cycle (GO:0051726)|response to unfolded protein (GO:0006986)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|synaptic transmission (GO:0007268)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	blood microparticle (GO:0072562)|clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane (GO:0061202)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|intracellular (GO:0005622)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|Prp19 complex (GO:0000974)|ribonucleoprotein complex (GO:0030529)|spliceosomal complex (GO:0005681)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled (GO:0042623)|enzyme binding (GO:0019899)|G-protein coupled receptor binding (GO:0001664)|heat shock protein binding (GO:0031072)|MHC class II protein complex binding (GO:0023026)|poly(A) RNA binding (GO:0044822)|ubiquitin protein ligase binding (GO:0031625)|unfolded protein binding (GO:0051082)			breast(1)|central_nervous_system(7)|endometrium(1)|kidney(9)|large_intestine(4)|lung(13)|upper_aerodigestive_tract(1)	36		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		TGAGTATACCATTGGCATCAA	0.453																																					Colon(21;486 594 5900 6733 14272)	ENST00000534624.1																			0				breast(1)|central_nervous_system(7)|endometrium(1)|kidney(9)|large_intestine(4)|lung(13)|upper_aerodigestive_tract(1)	36						c.(1447-1449)aaT>aaG		heat shock 70kDa protein 8							143	134	137					11																	122929413		2202	4299	6501	SO:0001583	missense	3312				cellular membrane organization|interspecies interaction between organisms|mRNA metabolic process|negative regulation of transcription, DNA-dependent|neurotransmitter secretion|post-Golgi vesicle-mediated transport|protein folding|response to unfolded protein|transcription, DNA-dependent	cell surface|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|melanosome|plasma membrane|ribonucleoprotein complex	ATP binding|ATPase activity, coupled|protein binding	g.chr11:122929413A>C	Y00371	CCDS8440.1, CCDS44754.1	11q24.1	2011-09-02	2002-08-29		ENSG00000109971	ENSG00000109971		"Heat shock proteins / HSP70"	5241	protein-coding gene	gene with protein product		600816	"heat shock 70kD protein 8"	HSPA10		8530083, 3037489	Standard	NM_006597		Approved	HSC71, HSC70, HSP73	uc001pyo.3	P11142	OTTHUMG00000166030	ENST00000532636.1:c.1449T>G	11.37:g.122929413A>C	ENSP00000437125:p.Asn483Lys					HSPA8_ENST00000227378.3_Missense_Mutation_p.N483K|HSPA8_ENST00000534319.1_Missense_Mutation_p.N247K|HSPA8_ENST00000533540.1_Missense_Mutation_p.N337K|HSPA8_ENST00000532636.1_Missense_Mutation_p.N483K|HSPA8_ENST00000453788.2_Intron|HSPA8_ENST00000526110.1_Missense_Mutation_p.N464K	p.N483K	NM_006597.4	NP_006588.1	P11142	HSP7C_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)	7	1725	-		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	483					Q9H3R6	Missense_Mutation	SNP	ENST00000532636.1	37	c.1449T>G	CCDS8440.1	.	.	.	.	.	.	.	.	.	.	A	17.11	3.305162	0.60305	.	.	ENSG00000109971	ENST00000532636;ENST00000533540;ENST00000534624;ENST00000227378;ENST00000534319;ENST00000526110;ENST00000524552;ENST00000526686	T;T;T;T;T;T;T;T	0.06068	3.35;3.35;3.35;3.35;3.35;3.35;3.35;3.35	4.45	2.02	0.26589	.	0.110892	0.56097	N	0.000027	T	0.32224	0.0822	H	0.99565	4.63	0.80722	D	1	P;P	0.48162	0.906;0.906	P;P	0.56648	0.803;0.803	T	0.06534	-1.0821	10	0.87932	D	0	-25.2748	5.4401	0.16504	0.7203:0.0:0.1509:0.1288	.	483;483	Q53GZ6;P11142	.;HSP7C_HUMAN	K	483;337;483;483;247;464;74;35	ENSP00000437125:N483K;ENSP00000437189:N337K;ENSP00000432083:N483K;ENSP00000227378:N483K;ENSP00000433316:N247K;ENSP00000433584:N464K;ENSP00000435908:N74K;ENSP00000435019:N35K	ENSP00000227378:N483K	N	-	3	2	HSPA8	122434623	1.000000	0.71417	0.990000	0.47175	0.777000	0.43975	1.071000	0.30666	0.165000	0.19558	-0.496000	0.04628	AAT		0.453	HSPA8-004	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000387515.1			25	55	0	0	0	1	0	25	55					C	122929413	A	C	122929413	3	2	236	1	0	0	0	0	1	0	0	0	7416	214	8	5	503	5	HSPA8	11	122929413	Missense_Mutation	SNP	A	TCGA-HC-8264-01B-11D-2395-08	5687453	122929413	12077103	25	10983											
SLC24A6	80024	broad.mit.edu	37	chr12	113758894	113758894	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgactcccagaatcagaaacAggtagagcagccaggaaacc	16	4	10	11	0	1	4	1	1	0	3	2	5	2	5	3	2	4	2	3	2	4	1			TCGA-HC-8264-01B-11D-2395-08	TCGA-HC-8264-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80ed0e60-9bf6-4407-9f9c-108672829690	50901c39-beb1-4a69-a21b-7ea825f55510	g.chr12:113758894A>T	ENST00000552014.1	-	5	844	c.329T>A	c.(328-330)cTg>cAg	p.L110Q	SLC8B1_ENST00000553238.1_5'UTR|SLC8B1_ENST00000202831.3_Missense_Mutation_p.L110Q|SLC8B1_ENST00000546737.1_Missense_Mutation_p.L110Q			Q6J4K2	NCKX6_HUMAN	solute carrier family 8 (sodium/lithium/calcium exchanger), member B1	110					cytosolic calcium ion homeostasis (GO:0051480)|glucose homeostasis (GO:0042593)|ion transport (GO:0006811)|mitochondrial calcium ion homeostasis (GO:0051560)|mitochondrial calcium ion transport (GO:0006851)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of insulin secretion (GO:0050796)|response to stimulus (GO:0050896)|transmembrane transport (GO:0055085)	integral component of mitochondrial membrane (GO:0032592)|mitochondrial crista (GO:0030061)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)	calcium:sodium antiporter activity (GO:0005432)|calcium:sodium antiporter activity involved in regulation of cardiac muscle cell membrane potential (GO:0086038)|protein homodimerization activity (GO:0042803)										AATCAGAAACAGGTAGAGCAG	0.622																																						ENST00000552014.1																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(3)|skin(1)	16						c.(328-330)cTg>cAg									41	46	44					12																	113758894		2203	4300	6503	SO:0001583	missense	0				response to stimulus|sodium ion transport	integral to membrane|plasma membrane	calcium:cation antiporter activity	g.chr12:113758894A>T	AK025886	CCDS31909.1	12q24.13	2013-07-19	2013-07-19	2013-07-19	ENSG00000089060	ENSG00000089060		"Solute carriers"	26175	protein-coding gene	gene with protein product		609841	"solute carrier family 24 (sodium/potassium/calcium exchanger), member 6", "solute carrier family 24 (sodium/lithium/calcium exchanger), member 6"	SLC24A6		14625281, 23506867	Standard	NM_024959		Approved	FLJ22233, NCKX6, NCLX	uc001tvc.3	Q6J4K2	OTTHUMG00000169566	ENST00000552014.1:c.329T>A	12.37:g.113758894A>T	ENSP00000447091:p.Leu110Gln					SLC24A6_ENST00000553238.1_5'UTR|SLC24A6_ENST00000546737.1_Missense_Mutation_p.L110Q|SLC24A6_ENST00000202831.3_Missense_Mutation_p.L110Q	p.L110Q			Q6J4K2	NCKX6_HUMAN			5	844	-			110					A6NP50|Q4KMS9|Q6J4K1|Q9H6I8	Missense_Mutation	SNP	ENST00000552014.1	37	c.329T>A	CCDS31909.1	.	.	.	.	.	.	.	.	.	.	A	19.00	3.741190	0.69304	.	.	ENSG00000089060	ENST00000552014;ENST00000202831;ENST00000377458;ENST00000546737;ENST00000549181;ENST00000548186	T;T;T;T	0.68025	-0.28;-0.28;-0.3;1.38	5.09	3.87	0.44632	.	0.000000	0.64402	D	0.000013	T	0.82213	0.4988	M	0.86573	2.825	0.58432	D	0.999992	D	0.89917	1.0	D	0.97110	1.0	D	0.85163	0.0993	10	0.87932	D	0	.	11.5657	0.50805	0.8507:0.1493:0.0:0.0	.	110	Q6J4K2	NCKX6_HUMAN	Q	110	ENSP00000447091:L110Q;ENSP00000202831:L110Q;ENSP00000450081:L110Q;ENSP00000448703:L110Q	ENSP00000202831:L110Q	L	-	2	0	SLC24A6	112243277	1.000000	0.71417	0.999000	0.59377	0.896000	0.52359	5.233000	0.65337	1.924000	0.55735	0.402000	0.26972	CTG		0.622	SLC8B1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404830.3	NM_024959		20	55	0	0	0	1	0	20	55					T	113758894	A	T	113758894	3	4	236	1	0	0	0	0	1	0	0	0	14470	188	7	5	1477	5	SLC24A6	12	113758894	Missense_Mutation	SNP	A	TCGA-HC-8264-01B-11D-2395-08		113758894	20093001	26	10984											
SLITRK1	114798	broad.mit.edu	37	chr13	84455386	84455386	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cattgttttccatgtgcaaaCtaaccgcattataaaagtta	14	14	5	8	1	0	0	0	0	0	0	1	0	1	0	2	0	3	4	2	0	6	7			TCGA-HC-8264-01B-11D-2395-08	TCGA-HC-8264-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80ed0e60-9bf6-4407-9f9c-108672829690	50901c39-beb1-4a69-a21b-7ea825f55510	g.chr13:84455386C>G	ENST00000377084.2	-	1	1142	c.257G>C	c.(256-258)aGt>aCt	p.S86T		NM_001281503.1|NM_052910.1	NP_001268432.1|NP_443142.1	Q96PX8	SLIK1_HUMAN	SLIT and NTRK-like family, member 1	86					adult behavior (GO:0030534)|axonogenesis (GO:0007409)|homeostatic process (GO:0042592)|multicellular organism growth (GO:0035264)	integral component of membrane (GO:0016021)				NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	80	Medulloblastoma(90;0.18)	Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.07)		CATGTGCAAACTAACCGCATT	0.453																																						ENST00000377084.2																			0				NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	80						c.(256-258)aGt>aCt		SLIT and NTRK-like family, member 1							70	72	72					13																	84455386		2203	4300	6503	SO:0001583	missense	114798					integral to membrane		g.chr13:84455386C>G	AB067497	CCDS9464.1	13q31.1	2004-01-08	2004-01-08		ENSG00000178235	ENSG00000178235			20297	protein-coding gene	gene with protein product		609678	"leucine rich repeat containing 12"	LRRC12		14557068, 12975309	Standard	NM_001281503		Approved	KIAA1910	uc001vlk.3	Q96PX8	OTTHUMG00000017149	ENST00000377084.2:c.257G>C	13.37:g.84455386C>G	ENSP00000366288:p.Ser86Thr						p.S86T	NM_052910.1	NP_443142.1	Q96PX8	SLIK1_HUMAN		GBM - Glioblastoma multiforme(99;0.07)	1	1142	-	Medulloblastoma(90;0.18)	Breast(118;0.212)	86					Q5U5I6|Q96SF9	Missense_Mutation	SNP	ENST00000377084.2	37	c.257G>C	CCDS9464.1	.	.	.	.	.	.	.	.	.	.	C	6.493	0.459070	0.12342	.	.	ENSG00000178235	ENST00000377084	T	0.52057	0.68	4.79	3.94	0.45596	.	0.000000	0.85682	D	0.000000	T	0.35537	0.0935	L	0.35723	1.085	0.43007	D	0.994539	B	0.33103	0.397	B	0.30716	0.119	T	0.12167	-1.0558	10	0.21540	T	0.41	-8.7329	13.1986	0.59754	0.1607:0.8393:0.0:0.0	.	86	Q96PX8	SLIK1_HUMAN	T	86	ENSP00000366288:S86T	ENSP00000366288:S86T	S	-	2	0	SLITRK1	83353387	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.831000	0.55776	1.219000	0.43474	0.561000	0.74099	AGT		0.453	SLITRK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045396.1	NM_052910		29	44	0	0	0	1	0	29	44					G	84455386	C	G	84455386	3	3	236	1	0	0	0	0	1	0	0	0	14742	565	20	5	1837	5	SLITRK1	13	84455386	Missense_Mutation	SNP	C	TCGA-HC-8264-01B-11D-2395-08		84455386	30714492	27	10985											
PTPN9	5780	broad.mit.edu	37	chr15	75816566	75816566	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tcactaagatggtgaattttCcactgaggatctcagaacga	13	11	9	8	1	2	4	2	2	1	2	4	6	3	5	1	2	1	0	1	2	3	3			TCGA-HC-8264-01B-11D-2395-08	TCGA-HC-8264-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80ed0e60-9bf6-4407-9f9c-108672829690	50901c39-beb1-4a69-a21b-7ea825f55510	g.chr15:75816566C>T	ENST00000306726.2	-	3	793	c.281G>A	c.(280-282)gGa>gAa	p.G94E	CTD-2323K18.1_ENST00000568707.1_RNA	NM_002833.2	NP_002824.1	P43378	PTN9_HUMAN	protein tyrosine phosphatase, non-receptor type 9	94	CRAL-TRIO. {ECO:0000255|PROSITE- ProRule:PRU00056}.				peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)	non-membrane spanning protein tyrosine phosphatase activity (GO:0004726)|protein tyrosine phosphatase activity (GO:0004725)			central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						GGTGAATTTTCCACTGAGGAT	0.388																																						ENST00000306726.2																			0				central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						c.(280-282)gGa>gAa		protein tyrosine phosphatase, non-receptor type 9							110	102	105					15																	75816566		2197	4294	6491	SO:0001583	missense	5780					cytoplasmic part	non-membrane spanning protein tyrosine phosphatase activity|protein binding	g.chr15:75816566C>T		CCDS10280.1	15q23	2011-06-09			ENSG00000169410	ENSG00000169410		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"	9661	protein-coding gene	gene with protein product		600768				1557404	Standard	NM_002833		Approved	MEG2	uc002bal.3	P43378	OTTHUMG00000142838	ENST00000306726.2:c.281G>A	15.37:g.75816566C>T	ENSP00000303554:p.Gly94Glu						p.G94E	NM_002833.2	NP_002824.1	P43378	PTN9_HUMAN			3	793	-			94			CRAL-TRIO.		Q53XR9	Missense_Mutation	SNP	ENST00000306726.2	37	c.281G>A	CCDS10280.1	.	.	.	.	.	.	.	.	.	.	C	24.9	4.582670	0.86748	.	.	ENSG00000169410	ENST00000306726;ENST00000544966	D	0.86956	-2.19	5.58	5.58	0.84498	Cellular retinaldehyde-binding/triple function, C-terminal (4);	0.000000	0.85682	D	0.000000	D	0.92841	0.7723	M	0.68952	2.095	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.92801	0.6256	10	0.56958	D	0.05	.	18.1258	0.89585	0.0:1.0:0.0:0.0	.	94	P43378	PTN9_HUMAN	E	94;84	ENSP00000303554:G94E	ENSP00000303554:G94E	G	-	2	0	PTPN9	73603621	1.000000	0.71417	0.993000	0.49108	0.927000	0.56198	7.238000	0.78173	2.622000	0.88805	0.491000	0.48974	GGA		0.388	PTPN9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286474.1			3	37	0	0	0	1	0	3	37					T	75816566	C	T	75816566	3	4	236	1	0	0	0	0	1	0	0	0	12794	855	30	3	1544	3	PTPN9	15	75816566	Missense_Mutation	SNP	C	TCGA-HC-8264-01B-11D-2395-08		75816566	26714826	28	10986											
PIGQ	9091	broad.mit.edu	37	chr16	630970	630970	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgccggccctacaggctggCgggtaagtgctgcgtattgg	5	9	16	11	3	0	0	0	0	0	0	0	0	0	0	2	5	4	4	2	5	3	4			TCGA-HC-8264-01B-11D-2395-08	TCGA-HC-8264-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80ed0e60-9bf6-4407-9f9c-108672829690	50901c39-beb1-4a69-a21b-7ea825f55510	g.chr16:630970C>T	ENST00000026218.5	+	9	1617	c.1529C>T	c.(1528-1530)gCg>gTg	p.A510V	PIGQ_ENST00000409527.2_Missense_Mutation_p.A510V|PIGQ_ENST00000321878.5_Missense_Mutation_p.A510V	NM_148920.2	NP_683721.1	Q9BRB3	PIGQ_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class Q	510	Leu-rich.				C-terminal protein lipidation (GO:0006501)|carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)	endoplasmic reticulum membrane (GO:0005789)|glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex (GO:0000506)|integral component of membrane (GO:0016021)	phosphatidylinositol N-acetylglucosaminyltransferase activity (GO:0017176)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	13		Hepatocellular(780;0.00335)				TACAGGCTGGCGGGTAAGTGC	0.647																																						ENST00000321878.5																			0				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	13						c.(1528-1530)gCg>gTg		phosphatidylinositol glycan anchor biosynthesis, class Q							81	75	77					16																	630970		2201	4300	6501	SO:0001583	missense	9091				C-terminal protein lipidation|carbohydrate metabolic process|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	phosphatidylinositol N-acetylglucosaminyltransferase activity	g.chr16:630970C>T	AB003723	CCDS10411.1, CCDS10412.1	16p13.3	2013-03-28	2006-06-28		ENSG00000007541	ENSG00000007541		"Phosphatidylinositol glycan anchor biosynthesis"	14135	protein-coding gene	gene with protein product		605754	"phosphatidylinositol glycan, class Q"			9463366, 9729469	Standard	NM_004204		Approved	hGPI1, GPI1	uc002cho.3	Q9BRB3	OTTHUMG00000168047	ENST00000026218.5:c.1529C>T	16.37:g.630970C>T	ENSP00000026218:p.Ala510Val					PIGQ_ENST00000409527.2_Missense_Mutation_p.A510V|PIGQ_ENST00000026218.5_Missense_Mutation_p.A510V	p.A510V	NM_004204.3	NP_004195.2	Q9BRB3	PIGQ_HUMAN			9	1688	+		Hepatocellular(780;0.00335)	510			Leu-rich.		A2IDE1|D3DU52|O14927|Q96G00|Q96S22|Q9UJH4	Missense_Mutation	SNP	ENST00000026218.5	37	c.1529C>T	CCDS10411.1	.	.	.	.	.	.	.	.	.	.	C	16.70	3.195430	0.58126	.	.	ENSG00000007541	ENST00000409527;ENST00000321878;ENST00000026218;ENST00000540241	T;T;T	0.46063	0.88;0.88;1.89	5.22	5.22	0.72569	.	0.051175	0.85682	D	0.000000	T	0.48352	0.1495	L	0.32530	0.975	0.80722	D	1	D;D;P	0.76494	0.998;0.999;0.535	P;P;B	0.56648	0.738;0.803;0.143	T	0.48186	-0.9057	10	0.56958	D	0.05	-13.7519	15.9255	0.79611	0.0:1.0:0.0:0.0	.	524;510;510	E7ERP4;Q9BRB3;Q9BRB3-2	.;PIGQ_HUMAN;.	V	510;510;510;68	ENSP00000386760:A510V;ENSP00000326674:A510V;ENSP00000026218:A510V	ENSP00000026218:A510V	A	+	2	0	PIGQ	570971	1.000000	0.71417	0.347000	0.25668	0.597000	0.36814	7.446000	0.80609	2.443000	0.82685	0.511000	0.50034	GCG		0.647	PIGQ-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000239270.2	NM_004204		63	156	0	0	0	1	0	63	156					T	630970	C	T	630970	3	4	236	1	0	0	0	0	1	0	0	0	11896	768	27	1	1559	1	PIGQ	16	630970	Missense_Mutation	SNP	C	TCGA-HC-8264-01B-11D-2395-08		630970	89723783	29	10987											
MEFV	4210	broad.mit.edu	37	chr16	3299765	3299765	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcagcggggactcgcagccGtgtctggtggccttcctggg	3	8	18	12	3	1	0	0	0	1	0	3	1	2	1	3	6	2	2	3	6	0	1	rs104895155	byFrequency	TCGA-HC-8264-01B-11D-2395-08	TCGA-HC-8264-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80ed0e60-9bf6-4407-9f9c-108672829690	50901c39-beb1-4a69-a21b-7ea825f55510	g.chr16:3299765G>A	ENST00000219596.1	-	3	965	c.926C>T	c.(925-927)aCg>aTg	p.T309M	MEFV_ENST00000541159.1_Missense_Mutation_p.T98M|MEFV_ENST00000536379.1_Missense_Mutation_p.T98M|MEFV_ENST00000339854.4_Missense_Mutation_p.T129M	NM_000243.2	NP_000234.1	O15553	MEFV_HUMAN	Mediterranean fever	309					inflammatory response (GO:0006954)|innate immune response (GO:0045087)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 beta production (GO:0032691)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of macrophage inflammatory protein 1 alpha production (GO:0071641)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of cysteine-type endopeptidase activity (GO:2001056)	cell projection (GO:0042995)|cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|nucleus (GO:0005634)	actin binding (GO:0003779)|zinc ion binding (GO:0008270)			NS(2)|biliary_tract(1)|breast(5)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(3)|prostate(1)|skin(6)	50						ACTCGCAGCCGTGTCTGGTGG	0.602																																						ENST00000219596.1																			0				NS(2)|biliary_tract(1)|breast(5)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(3)|prostate(1)|skin(6)	50	GRCh37	CM060331	MEFV	M	rs104895155	c.(925-927)aCg>aTg		Mediterranean fever	Colchicine(DB01394)	G	MET/THR,MET/THR	3,4391	6.2+/-15.9	0,3,2194	30	34	33	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	926,293	0.3	0	16	dbSNP_132	33	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	MEFV	NM_000243.2,NM_001198536.1	81,81	0,4,6493	AA,AG,GG		0.0116,0.0683,0.0308	possibly-damaging,possibly-damaging	309/782,98/446	3299765	4,12990	2197	4300	6497	SO:0001583	missense	4210				inflammatory response	cytoplasm|microtubule|microtubule associated complex|nucleus	actin binding|zinc ion binding	g.chr16:3299765G>A	AF018080	CCDS10498.1, CCDS55981.1	16p13.3	2014-09-17			ENSG00000103313	ENSG00000103313		"Tripartite motif containing / Tripartite motif containing"	6998	protein-coding gene	gene with protein product	"pyrin"	608107		MEF		9288094	Standard	NM_000243		Approved	FMF, TRIM20	uc002cun.1	O15553	OTTHUMG00000129324	ENST00000219596.1:c.926C>T	16.37:g.3299765G>A	ENSP00000219596:p.Thr309Met					MEFV_ENST00000541159.1_Missense_Mutation_p.T98M|MEFV_ENST00000339854.4_Missense_Mutation_p.T129M|MEFV_ENST00000536379.1_Missense_Mutation_p.T98M	p.T309M	NM_000243.2	NP_000234.1	O15553	MEFV_HUMAN			3	965	-			309					D3DUC0|F5H0Q3|Q3MJ84|Q96PN4|Q96PN5	Missense_Mutation	SNP	ENST00000219596.1	37	c.926C>T	CCDS10498.1	.	.	.	.	.	.	.	.	.	.	G	6.338	0.430403	0.12045	6.83E-4	1.16E-4	ENSG00000103313	ENST00000545159;ENST00000219596;ENST00000339854;ENST00000541159;ENST00000536379;ENST00000534868	T;T;T;T	0.64991	-0.13;0.32;0.18;0.27	3.86	0.307	0.15811	.	1.137710	0.06499	N	0.735966	T	0.34337	0.0894	N	0.08118	0	0.09310	N	1	P	0.39116	0.66	B	0.27715	0.082	T	0.26087	-1.0113	10	0.87932	D	0	.	4.7259	0.12941	0.0:0.1067:0.3927:0.5007	.	309	O15553	MEFV_HUMAN	M	309;309;129;98;98;98	ENSP00000219596:T309M;ENSP00000339639:T129M;ENSP00000438711:T98M;ENSP00000445079:T98M	ENSP00000219596:T309M	T	-	2	0	MEFV	3239766	0.013000	0.17824	0.012000	0.15200	0.020000	0.10135	0.351000	0.20096	0.023000	0.15187	-0.525000	0.04345	ACG		0.602	MEFV-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251464.1	NM_000243		7	38	0	0	0	1	0	7	38					A	3299765	G	A	3299765	3	1	236	1	0	0	0	0	1	0	0	0	9459	1145	40	1	1451	1	MEFV	16	3299765	Missense_Mutation	SNP	G	TCGA-HC-8264-01B-11D-2395-08	2668795	3299765	87054988	30	10988											
ZCCHC14	23174	broad.mit.edu	37	chr16	87451066	87451066	+	Splice_Site	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagccagaaaaccgacatacCttctccatggagagctgctt	12	8	8	13	1	1	2	0	0	1	2	2	4	1	2	4	1	5	2	4	1	3	3			TCGA-HC-8264-01B-11D-2395-08	TCGA-HC-8264-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80ed0e60-9bf6-4407-9f9c-108672829690	50901c39-beb1-4a69-a21b-7ea825f55510	g.chr16:87451066C>G	ENST00000268616.4	-	8	1189	c.972G>C	c.(970-972)aaG>aaC	p.K324N		NM_015144.2	NP_055959.1	Q8WYQ9	ZCH14_HUMAN	zinc finger, CCHC domain containing 14	324							nucleic acid binding (GO:0003676)|phosphatidylinositol binding (GO:0035091)|zinc ion binding (GO:0008270)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	36				BRCA - Breast invasive adenocarcinoma(80;0.0285)		ACCGACATACCTTCTCCATGG	0.493											OREG0024030	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000268616.4																			0				breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	36						c.e8+1		zinc finger, CCHC domain containing 14							132	138	136					16																	87451066		2198	4300	6498	SO:0001630	splice_region_variant	23174				cell communication		nucleic acid binding|phosphatidylinositol binding|zinc ion binding	g.chr16:87451066C>G	AB011151	CCDS10961.1	16q24.2	2013-01-10			ENSG00000140948	ENSG00000140948		"Zinc fingers, CCHC domain containing", "Sterile alpha motif (SAM) domain containing"	24134	protein-coding gene	gene with protein product						9628581	Standard	XM_005255858		Approved	BDG29, MGC14139	uc002fjz.1	Q8WYQ9	OTTHUMG00000137655	ENST00000268616.4:c.972+1G>C	16.37:g.87451066C>G			OREG0024030	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1252		p.K324_splice	NM_015144.2	NP_055959.1	Q8WYQ9	ZCH14_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0285)	8	1189	-			324					D3DUN1|O60324|Q3MJD8|Q9UFP0	Splice_Site	SNP	ENST00000268616.4	37	c.972_splice	CCDS10961.1	.	.	.	.	.	.	.	.	.	.	C	24.3	4.520236	0.85495	.	.	ENSG00000140948	ENST00000268616	T	0.51071	0.72	5.69	5.69	0.88448	Sterile alpha motif/pointed domain (2);Sterile alpha motif, type 1 (1);	0.050637	0.85682	D	0.000000	T	0.59321	0.2185	L	0.29908	0.895	0.58432	D	0.999995	D;D	0.89917	0.996;1.0	D;D	0.87578	0.937;0.998	T	0.53954	-0.8365	9	.	.	.	-31.3334	19.8182	0.96579	0.0:1.0:0.0:0.0	.	324;324	Q8WYQ9-2;Q8WYQ9	.;ZCH14_HUMAN	N	324	ENSP00000268616:K324N	.	K	-	3	2	ZCCHC14	86008567	1.000000	0.71417	1.000000	0.80357	0.855000	0.48748	7.096000	0.76960	2.700000	0.92200	0.561000	0.74099	AAG		0.493	ZCCHC14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269107.1	NM_015144	Missense_Mutation	64	140	0	0	0	1	0	64	140					G	87451066	C	G	87451066	5	3	236	1	0	0	0	0	0	0	1	0	17580	695	24	5	1901	5	ZCCHC14	16	87451066	Splice_Site	SNP	C	TCGA-HC-8264-01B-11D-2395-08	84151301	87451066	2903687	31	10989											
SLC13A2	9058	broad.mit.edu	37	chr17	26818588	26818588	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agcatcgggggcatcgccacGctgactggcaccgcacccaa	9	4	12	16	4	0	1	0	1	0	0	2	1	0	1	3	3	1	5	3	3	1	0			TCGA-HC-8264-01B-11D-2395-08	TCGA-HC-8264-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80ed0e60-9bf6-4407-9f9c-108672829690	50901c39-beb1-4a69-a21b-7ea825f55510	g.chr17:26818588G>A	ENST00000314669.5	+	5	1128	c.708G>A	c.(706-708)acG>acA	p.T236T	SLC13A2_ENST00000537681.1_Silent_p.T165T|SLC13A2_ENST00000444914.3_Silent_p.T285T|SLC13A2_ENST00000545060.1_Silent_p.T193T	NM_003984.3	NP_003975.1	Q13183	S13A2_HUMAN	solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 2	236					dicarboxylic acid transport (GO:0006835)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	low-affinity sodium:dicarboxylate symporter activity (GO:0015361)			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	all_lung(13;0.000871)|Lung NSC(42;0.0027)			UCEC - Uterine corpus endometrioid carcinoma (53;0.154)	Succinic acid(DB00139)	GCATCGCCACGCTGACTGGCA	0.627																																						ENST00000444914.3																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						c.(853-855)acG>acA		solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 2	Succinic acid(DB00139)						62	58	59					17																	26818588		2203	4300	6503	SO:0001819	synonymous_variant	9058					integral to plasma membrane|membrane fraction	low affinity sodium:dicarboxylate symporter activity	g.chr17:26818588G>A	U26209	CCDS11231.1, CCDS54098.1	17p13.2	2013-05-22			ENSG00000007216	ENSG00000007216		"Solute carriers"	10917	protein-coding gene	gene with protein product		604148				8967342, 10343111	Standard	NM_001145975		Approved	NaDC-1	uc010wan.2	Q13183	OTTHUMG00000132523	ENST00000314669.5:c.708G>A	17.37:g.26818588G>A						SLC13A2_ENST00000545060.1_Silent_p.T193T|SLC13A2_ENST00000537681.1_Silent_p.T165T|SLC13A2_ENST00000314669.5_Silent_p.T236T	p.T285T	NM_001145975.1	NP_001139447.1	Q13183	S13A2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (53;0.154)	5	1275	+	all_lung(13;0.000871)|Lung NSC(42;0.0027)		236					B2RBI9|B4DPL1|E7ETH5|Q4VAR7	Silent	SNP	ENST00000314669.5	37	c.855G>A	CCDS11231.1																																																																																				0.627	SLC13A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255722.1	NM_003984		66	93	0	0	0	1	0	66	93					A	26818588	G	A	26818588	2	1	236	1	0	0	0	0	0	0	0	1	14392	1074	38	1		1	SLC13A2	17	26818588	Silent	SNP	G	TCGA-HC-8264-01B-11D-2395-08		26818588	54376622	32	10990											
C17orf53	78995	broad.mit.edu	37	chr17	42226166	42226166	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tactccctcaaggactagctCtggattatttcctcggatac	9	13	7	12	1	2	0	1	0	1	0	5	3	4	3	2	3	3	1	2	3	5	5			TCGA-HC-8264-01B-11D-2395-08	TCGA-HC-8264-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80ed0e60-9bf6-4407-9f9c-108672829690	50901c39-beb1-4a69-a21b-7ea825f55510	g.chr17:42226166C>G	ENST00000319977.4	+	3	1232	c.995C>G	c.(994-996)tCt>tGt	p.S332C	C17orf53_ENST00000245382.6_Missense_Mutation_p.S332C|C17orf53_ENST00000585683.1_Missense_Mutation_p.S332C	NM_001171251.1|NM_024032.3	NP_001164722.1|NP_076937.2	Q8N3J3	CQ053_HUMAN	chromosome 17 open reading frame 53	332										NS(1)|breast(3)|cervix(1)|kidney(3)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	22		Breast(137;0.0364)|Prostate(33;0.0376)		BRCA - Breast invasive adenocarcinoma(366;0.114)		AGGACTAGCTCTGGATTATTT	0.517																																						ENST00000319977.4																			0				NS(1)|breast(3)|cervix(1)|kidney(3)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	22						c.(994-996)tCt>tGt		chromosome 17 open reading frame 53							243	238	240					17																	42226166		2203	4300	6503	SO:0001583	missense	78995							g.chr17:42226166C>G	AK021656	CCDS11477.1, CCDS59293.1	17q21.31	2012-10-11			ENSG00000125319	ENSG00000125319			28460	protein-coding gene	gene with protein product							Standard	NM_001171251		Approved	MGC3130	uc002ifi.2	Q8N3J3	OTTHUMG00000181808	ENST00000319977.4:c.995C>G	17.37:g.42226166C>G	ENSP00000313500:p.Ser332Cys					C17orf53_ENST00000585683.1_Missense_Mutation_p.S332C|C17orf53_ENST00000245382.6_Missense_Mutation_p.S332C	p.S332C	NM_001171251.1|NM_024032.3	NP_001164722.1|NP_076937.2	Q8N3J3	CQ053_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.114)	3	1232	+		Breast(137;0.0364)|Prostate(33;0.0376)	332					A8K7A9|Q9BWM9|Q9HAI1	Missense_Mutation	SNP	ENST00000319977.4	37	c.995C>G	CCDS11477.1	.	.	.	.	.	.	.	.	.	.	C	11.93	1.786458	0.31593	.	.	ENSG00000125319	ENST00000319977;ENST00000245382	T;T	0.53857	0.65;0.6	5.44	-0.508	0.11980	.	0.729117	0.12646	N	0.450833	T	0.33352	0.0860	N	0.19112	0.55	0.09310	N	1	B;B;B	0.24368	0.051;0.102;0.051	B;B;B	0.24155	0.037;0.051;0.037	T	0.20306	-1.0279	10	0.48119	T	0.1	-0.0681	7.3665	0.26776	0.1183:0.3536:0.4593:0.0688	.	332;332;332	A8K7A9;Q8N3J3-3;Q8N3J3	.;.;CQ053_HUMAN	C	332	ENSP00000313500:S332C;ENSP00000245382:S332C	ENSP00000245382:S332C	S	+	2	0	C17orf53	39581692	0.000000	0.05858	0.000000	0.03702	0.202000	0.24057	-0.927000	0.03984	-0.187000	0.10516	0.561000	0.74099	TCT		0.517	C17orf53-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000457697.1	NM_024032		93	180	0	0	0	1	0	93	180					G	42226166	C	G	42226166	3	3	236	1	0	0	0	0	1	0	0	0	1862	913	32	5	1005	5	C17orf53	17	42226166	Missense_Mutation	SNP	C	TCGA-HC-8264-01B-11D-2395-08	15407578	42226166	38969044	33	10991											
LAMA3	3909	broad.mit.edu	37	chr18	21501019	21501019	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	acaacggcagagaccattcgGtacaccttttgagtctgttt	10	12	9	10	2	1	2	0	1	1	1	2	3	1	2	2	2	2	3	2	2	2	5			TCGA-HC-8264-01B-11D-2395-08	TCGA-HC-8264-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80ed0e60-9bf6-4407-9f9c-108672829690	50901c39-beb1-4a69-a21b-7ea825f55510	g.chr18:21501019G>T	ENST00000313654.9	+	61	8284		c.e61+1		LAMA3_ENST00000588770.1_Splice_Site|LAMA3_ENST00000399516.3_Splice_Site|LAMA3_ENST00000587184.1_Splice_Site|LAMA3_ENST00000269217.6_Splice_Site	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3						cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-5 complex (GO:0005610)	structural molecule activity (GO:0005198)			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)					AGACCATTCGGTACACCTTTT	0.388																																						ENST00000313654.9																			0				NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128						c.e61+1		laminin, alpha 3	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						109	98	102					18																	21501019		2203	4300	6503	SO:0001630	splice_region_variant	3909				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	g.chr18:21501019G>T	L34155	CCDS11880.1, CCDS42419.1, CCDS45838.1, CCDS59307.1	18q11.2	2013-03-01	2002-08-29		ENSG00000053747	ENSG00000053747		"Laminins"	6483	protein-coding gene	gene with protein product		600805	"laminin, alpha 3 (nicein (150kD), kalinin (165kD), BM600 (150kD), epilegrin)"	LAMNA		8077230	Standard	NM_000227		Approved	nicein-150kDa, kalinin-165kDa, BM600-150kDa, epiligrin	uc002kuq.3	Q16787	OTTHUMG00000131874	ENST00000313654.9:c.8043+1G>T	18.37:g.21501019G>T						LAMA3_ENST00000587184.1_Splice_Site|LAMA3_ENST00000399516.3_Splice_Site|LAMA3_ENST00000588770.1_Splice_Site|LAMA3_ENST00000269217.6_Splice_Site		NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN			61	8284	+	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)							B0YJ33|Q13679|Q13680|Q6VU67|Q6VU68|Q6VU69|Q76E14|Q96TG0	Splice_Site	SNP	ENST00000313654.9	37		CCDS42419.1	.	.	.	.	.	.	.	.	.	.	G	15.08	2.727327	0.48833	.	.	ENSG00000053747	ENST00000313654;ENST00000399516;ENST00000269217	.	.	.	4.8	4.8	0.61643	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.2	0.82063	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	LAMA3	19755017	1.000000	0.71417	0.911000	0.35937	0.026000	0.11368	5.463000	0.66712	2.500000	0.84329	0.650000	0.86243	.		0.388	LAMA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254824.3	NM_000227, NM_198129	Intron	9	17	1	0	5.4927e-09	1	5.85288e-09	9	17					T	21501019	G	T	21501019	5	4	236	1	0	0	0	0	0	0	1	0	8607	1275	44	5	8461	5	LAMA3	18	21501019	Splice_Site	SNP	G	TCGA-HC-8264-01B-11D-2395-08		21501019	56576229	34	10992											
ARID3A	1820	broad.mit.edu	37	chr19	932529	932529	+	Frame_Shift_Del	DEL	C	C	-																															gaggacgaggaggggctgggCcccccaggccctgccagctt																										TCGA-HC-8264-01B-11D-2395-08	TCGA-HC-8264-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80ed0e60-9bf6-4407-9f9c-108672829690	50901c39-beb1-4a69-a21b-7ea825f55510	g.chr19:932529delC	ENST00000263620.3	+	3	807	c.480delC	c.(478-480)ggcfs	p.G160fs		NM_005224.2	NP_005215.1	Q99856	ARI3A_HUMAN	AT rich interactive domain 3A (BRIGHT-like)	160						cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane raft (GO:0045121)|nucleolus (GO:0005730)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(1)	10		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		aggGGCTGGGCCCCCCAGGCC	0.692																																					Pancreas(29;54 1022 32760 50921)	ENST00000263620.3																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(1)	10						c.(478-480)ggfs		AT rich interactive domain 3A (BRIGHT-like)							11	7	9					19																	932529		2104	4166	6270	SO:0001589	frameshift_variant	1820					cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr19:932529delC	U88047	CCDS12050.1	19p13.3	2013-02-07	2006-11-08	2004-01-30		ENSG00000116017		"-"	3031	protein-coding gene	gene with protein product		603265	"dead ringer-like 1 (Drosophila)", "AT rich interactive domain 3A (BRIGHT- like)"	DRIL1		9722953	Standard	NM_005224		Approved	BRIGHT	uc002lql.3	Q99856		ENST00000263620.3:c.480delC	19.37:g.932529delC	ENSP00000263620:p.Gly160fs						p.G160fs	NM_005224.2	NP_005215.1	Q99856	ARI3A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	3	807	+		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)	160					Q5I858|Q6P9C6|Q8IZA7|Q8N4Z3	Frame_Shift_Del	DEL	ENST00000263620.3	37	c.480delC	CCDS12050.1																																																																																				0.692	ARID3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458219.1	NM_005224		6	10						6	10	---	---	---	---	-	932529	C	-	932529	7	5	236	1	0	1	0	1	0	0	0	0	916	726	26	0	486	0	ARID3A	19	932529	Frame_Shift_Del	DEL	C	TCGA-HC-8264-01B-11D-2395-08		932529	58196454	35	10993											
TUBB4	10382	broad.mit.edu	37	chr19	6495508	6495508	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aagtagctgctgttcttgctCtgcacgctcagcatctgctc	6	13	9	13	1	4	0	1	0	3	0	5	0	4	0	0	0	6	9	0	0	2	3			TCGA-HC-8264-01B-11D-2395-08	TCGA-HC-8264-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80ed0e60-9bf6-4407-9f9c-108672829690	50901c39-beb1-4a69-a21b-7ea825f55510	g.chr19:6495508C>G	ENST00000264071.2	-	4	1373	c.1002G>C	c.(1000-1002)caG>caC	p.Q334H	TUBB4A_ENST00000540257.1_Missense_Mutation_p.Q334H|CTD-2396E7.9_ENST00000599292.1_RNA|CTD-2396E7.10_ENST00000596027.1_RNA			P04350	TBB4A_HUMAN	tubulin, beta 4A class IVa	334					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based process (GO:0007017)|mitotic cell cycle (GO:0000278)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cilium (GO:0005929)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|internode region of axon (GO:0033269)|microtubule (GO:0005874)|myelin sheath (GO:0043209)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)										TGTTCTTGCTCTGCACGCTCA	0.667																																						ENST00000264071.2																			0											c.(1000-1002)caG>caC		tubulin, beta 4A class IVa							180	145	157					19																	6495508		2203	4300	6503	SO:0001583	missense	10382				'de novo' posttranslational protein folding|G2/M transition of mitotic cell cycle|microtubule-based movement|protein polymerization	cytosol|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity	g.chr19:6495508C>G	AK075307	CCDS12168.1	19p13.3	2014-02-05	2011-10-11	2011-10-10	ENSG00000104833	ENSG00000104833		"Tubulins"	20774	protein-coding gene	gene with protein product	"class IVa beta-tubulin"	602662	"tubulin, beta 4", "tubulin, beta 4 class IVa", "dystonia 4, torsion (autosomal dominant)"	TUBB4, DYT4		6865944, 6462917, 23595291	Standard	NM_001289123		Approved	beta-5	uc002mfg.1	P04350		ENST00000264071.2:c.1002G>C	19.37:g.6495508C>G	ENSP00000264071:p.Gln334His					TUBB4A_ENST00000540257.1_Missense_Mutation_p.Q334H	p.Q334H			P04350	TBB4_HUMAN			4	1373	-			334					B3KQP4|Q969E5	Missense_Mutation	SNP	ENST00000264071.2	37	c.1002G>C	CCDS12168.1	.	.	.	.	.	.	.	.	.	.	C	13.64	2.298619	0.40694	.	.	ENSG00000104833	ENST00000264071;ENST00000540257;ENST00000412858	D;D	0.85013	-1.93;-1.93	3.43	2.37	0.29283	.	0.000000	0.64402	U	0.000005	D	0.93028	0.7781	M	0.93462	3.42	0.46798	D	0.999209	D	0.89917	1.0	D	0.97110	1.0	D	0.92153	0.5730	10	0.87932	D	0	.	9.4348	0.38632	0.0:0.8868:0.0:0.1132	.	334	P04350	TBB4A_HUMAN	H	334;334;252	ENSP00000264071:Q334H;ENSP00000443590:Q334H	ENSP00000264071:Q334H	Q	-	3	2	TUBB4	6446508	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	3.901000	0.56303	0.423000	0.26033	0.306000	0.20318	CAG		0.667	TUBB4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457841.1	NM_006087		154	286	0	0	0	1	0	154	286					G	6495508	C	G	6495508	3	3	236	1	0	0	0	0	1	0	0	0	16755	912	32	5	336	5	TUBB4	19	6495508	Missense_Mutation	SNP	C	TCGA-HC-8264-01B-11D-2395-08	5562979	6495508	52633475	36	10994											
CEACAM7	1087	broad.mit.edu	37	chr19	42192031	42192031	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaggaagtcctcccctcacCtgtgagcaggagcccctgcc	7	6	10	18	0	1	1	1	1	0	0	3	3	3	3	8	2	3	1	8	2	1	0			TCGA-HC-8264-01B-11D-2395-08	TCGA-HC-8264-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80ed0e60-9bf6-4407-9f9c-108672829690	50901c39-beb1-4a69-a21b-7ea825f55510	g.chr19:42192031C>T	ENST00000006724.3	-	1	265	c.64G>A	c.(64-66)Gcc>Acc	p.A22T	CEACAM7_ENST00000602225.1_Splice_Site_p.A22T|CEACAM7_ENST00000599715.1_Intron|CEACAM7_ENST00000401731.1_Splice_Site_p.A22T|CEACAM7_ENST00000338196.4_Splice_Site_p.A22T	NM_006890.3	NP_008821.1	Q14002	CEAM7_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 7	22						anchored component of membrane (GO:0031225)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	18				OV - Ovarian serous cystadenocarcinoma(3;0.0027)|all cancers(3;0.00979)|Epithelial(262;0.0366)		CTCCCCTCACCTGTGAGCAGG	0.632																																						ENST00000006724.3																			0				breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	18						c.e1+1		carcinoembryonic antigen-related cell adhesion molecule 7							63	56	58					19																	42192031		2203	4300	6503	SO:0001630	splice_region_variant	1087					anchored to membrane|integral to membrane|plasma membrane		g.chr19:42192031C>T	X98311	CCDS12583.1	19q13.2	2013-01-29			ENSG00000007306	ENSG00000007306		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	1819	protein-coding gene	gene with protein product	"carcinoembryonic antigen gene family member 2"			CGM2		7806520, 9135022	Standard	XM_005278379		Approved	CEA	uc002ori.1	Q14002	OTTHUMG00000151063	ENST00000006724.3:c.64+1G>A	19.37:g.42192031C>T						CEACAM7_ENST00000401731.1_Splice_Site_p.A22_splice|CEACAM7_ENST00000599715.1_Intron|CEACAM7_ENST00000338196.4_Splice_Site_p.A22_splice|CEACAM7_ENST00000602225.1_Splice_Site_p.A22_splice	p.A22_splice	NM_006890.3	NP_008821.1	Q14002	CEAM7_HUMAN		OV - Ovarian serous cystadenocarcinoma(3;0.0027)|all cancers(3;0.00979)|Epithelial(262;0.0366)	1	265	-			22					A8K848|O15148|O15149|Q0VAC1|Q13983|Q9UPJ2	Splice_Site	SNP	ENST00000006724.3	37	c.64_splice	CCDS12583.1	.	.	.	.	.	.	.	.	.	.	-	19.11	3.764000	0.69878	.	.	ENSG00000007306	ENST00000006724;ENST00000412062;ENST00000401731;ENST00000338196	T;T;T	0.26810	1.71;1.71;4.33	1.67	1.67	0.24075	.	.	.	.	.	T	0.49592	0.1566	M	0.85542	2.76	0.20703	N	0.999867	D;D	0.89917	1.0;0.997	D;D	0.81914	0.995;0.981	T	0.20638	-1.0269	8	.	.	.	.	6.7921	0.23705	0.0:1.0:0.0:0.0	.	22;22	Q14002-2;Q14002	.;CEAM7_HUMAN	T	22	ENSP00000006724:A22T;ENSP00000385932:A22T;ENSP00000343286:A22T	.	A	-	1	0	CEACAM7	46883871	0.999000	0.42202	0.773000	0.31616	0.530000	0.34684	2.551000	0.45820	1.230000	0.43646	0.305000	0.20034	GCC		0.632	CEACAM7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321145.1	NM_006890	Missense_Mutation	21	49	0	0	0	1	0	21	49					T	42192031	C	T	42192031	5	4	236	1	0	0	0	0	0	0	1	0	3197	695	24	3	749	3	CEACAM7	19	42192031	Splice_Site	SNP	C	TCGA-HC-8264-01B-11D-2395-08	35696523	42192031	16936952	37	10995											
ZNF628	89887	broad.mit.edu	37	chr19	55995366	55995366	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggacgagggcttgcagagcGtgctggtgctgagcggggcc	5	6	20	10	4	0	2	0	1	0	1	0	4	0	3	1	5	5	4	1	5	0	1			TCGA-HC-8264-01B-11D-2395-08	TCGA-HC-8264-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80ed0e60-9bf6-4407-9f9c-108672829690	50901c39-beb1-4a69-a21b-7ea825f55510	g.chr19:55995366G>A	ENST00000598519.1	+	3	3359	c.2806G>A	c.(2806-2808)Gtg>Atg	p.V936M	NAT14_ENST00000591590.1_5'Flank|ZNF628_ENST00000391718.2_Missense_Mutation_p.V932M|NAT14_ENST00000587400.1_5'Flank|NAT14_ENST00000205194.4_5'Flank			Q5EBL2	ZN628_HUMAN	zinc finger protein 628	936					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(4)|kidney(1)|lung(2)	7	Breast(117;0.155)		BRCA - Breast invasive adenocarcinoma(297;0.18)|LUSC - Lung squamous cell carcinoma(43;0.193)	GBM - Glioblastoma multiforme(193;0.0531)		CTTGCAGAGCGTGCTGGTGCT	0.677																																						ENST00000598519.1																			0				endometrium(4)|kidney(1)|lung(2)	7						c.(2806-2808)Gtg>Atg		zinc finger protein 628							46	30	35					19																	55995366		2201	4299	6500	SO:0001583	missense	89887					nucleus	DNA binding|zinc ion binding	g.chr19:55995366G>A	AF367249	CCDS33116.3	19q13.43	2013-01-08			ENSG00000197483	ENSG00000197483		"Zinc fingers, C2H2-type"	28054	protein-coding gene	gene with protein product	"Zinc finger expressed in Embryonal cells and Certain adult organs"	610671					Standard	NM_033113		Approved	ZEC, Zfp628	uc002qld.3	Q5EBL2	OTTHUMG00000150396	ENST00000598519.1:c.2806G>A	19.37:g.55995366G>A	ENSP00000469591:p.Val936Met					ZNF628_ENST00000391718.2_Missense_Mutation_p.V932M	p.V936M	NM_033113.2	NP_149104.3	Q5EBL2	ZN628_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.18)|LUSC - Lung squamous cell carcinoma(43;0.193)	GBM - Glioblastoma multiforme(193;0.0531)	3	3359	+	Breast(117;0.155)		932					Q86X34	Missense_Mutation	SNP	ENST00000598519.1	37	c.2806G>A	CCDS33116.3	.	.	.	.	.	.	.	.	.	.	.	14.80	2.642702	0.47153	.	.	ENSG00000197483	ENST00000391718	T	0.12672	2.66	4.14	3.08	0.35506	.	0.000000	0.42420	U	0.000707	T	0.15478	0.0373	N	0.24115	0.695	0.26094	N	0.980915	D	0.71674	0.998	P	0.55545	0.778	T	0.02301	-1.1180	10	0.87932	D	0	.	9.2066	0.37293	0.1116:0.0:0.8884:0.0	.	932	Q5EBL2	ZN628_HUMAN	M	932	ENSP00000375598:V932M	ENSP00000375598:V932M	V	+	1	0	ZNF628	60687178	0.000000	0.05858	0.998000	0.56505	0.859000	0.49053	0.151000	0.16283	2.028000	0.59812	0.289000	0.19496	GTG		0.677	ZNF628-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317934.2	XM_058964		6	17	0	0	0	1	0	6	17					A	55995366	G	A	55995366	3	1	236	1	0	0	0	0	1	0	0	0	18049	1145	40	1	2796	1	ZNF628	19	55995366	Missense_Mutation	SNP	G	TCGA-HC-8264-01B-11D-2395-08	13803335	55995366	3133617	38	10996											
MAPRE1	22919	broad.mit.edu	37	chr20	31421540	31421540	+	Frame_Shift_Del	DEL	T	T	-																															caggggctgcgtattgtcagTttatggacatgctgttccct																										TCGA-HC-8264-01B-11D-2395-08	TCGA-HC-8264-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80ed0e60-9bf6-4407-9f9c-108672829690	50901c39-beb1-4a69-a21b-7ea825f55510	g.chr20:31421540delT	ENST00000375571.5	+	3	278	c.139delT	c.(139-141)tttfs	p.F47fs		NM_012325.2	NP_036457.1	Q15691	MARE1_HUMAN	microtubule-associated protein, RP/EB family, member 1	47	CH. {ECO:0000255|PROSITE- ProRule:PRU00044}.				cell proliferation (GO:0008283)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of microtubule polymerization (GO:0031115)|positive regulation of microtubule plus-end binding (GO:1903033)|protein localization to microtubule (GO:0035372)	cell projection membrane (GO:0031253)|centrosome (GO:0005813)|cortical microtubule cytoskeleton (GO:0030981)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|microtubule plus-end (GO:0035371)	microtubule plus-end binding (GO:0051010)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)			endometrium(2)|large_intestine(1)|lung(3)|prostate(2)	8						GTATTGTCAGTTTATGGACAT	0.413																																						ENST00000375571.5																			0				endometrium(2)|large_intestine(1)|lung(3)|prostate(2)	8						c.(139-141)ttfs		microtubule-associated protein, RP/EB family, member 1							162	146	151					20																	31421540		2203	4300	6503	SO:0001589	frameshift_variant	22919				cell division|cell proliferation|G2/M transition of mitotic cell cycle|mitotic prometaphase|negative regulation of microtubule polymerization|protein localization to microtubule	centrosome|cortical microtubule cytoskeleton|cytosol	microtubule plus-end binding|protein C-terminus binding	g.chr20:31421540delT	U24166	CCDS13208.1	20q11.1-q11.3	2013-01-17			ENSG00000101367	ENSG00000101367			6890	protein-coding gene	gene with protein product	"adenomatous polyposis coli-binding protein EB1"	603108				7606712, 9724749, 11470413	Standard	NM_012325		Approved	EB1	uc002wyh.3	Q15691	OTTHUMG00000032228	ENST00000375571.5:c.139delT	20.37:g.31421540delT	ENSP00000364721:p.Phe47fs						p.F47fs	NM_012325.2	NP_036457.1	Q15691	MARE1_HUMAN			3	278	+			47			CH.		B2R6I7|E1P5M8|Q3KQS8	Frame_Shift_Del	DEL	ENST00000375571.5	37	c.139delT	CCDS13208.1																																																																																				0.413	MAPRE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078647.2	NM_012325		27	48						27	48	---	---	---	---	-	31421540	T	-	31421540	7	5	236	1	0	1	0	1	0	0	0	0	9294	1725	60	0	145	0	MAPRE1	20	31421540	Frame_Shift_Del	DEL	T	TCGA-HC-8264-01B-11D-2395-08		31421540	31603980	39	10997											
GRIK1	2897	broad.mit.edu	37	chr21	31066220	31066220	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggaaaatagttacctctcCgcgaggcttcaaaactatca	13	10	8	10	2	3	0	2	0	1	0	4	2	3	1	2	2	2	2	2	2	7	4	rs375169701		TCGA-HC-8264-01B-11D-2395-08	TCGA-HC-8264-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80ed0e60-9bf6-4407-9f9c-108672829690	50901c39-beb1-4a69-a21b-7ea825f55510	g.chr21:31066220C>T	ENST00000399907.1	-	2	692	c.281G>A	c.(280-282)cGg>cAg	p.R94Q	GRIK1_ENST00000472429.1_5'UTR|GRIK1_ENST00000399914.1_Missense_Mutation_p.R94Q|GRIK1_ENST00000399909.1_Missense_Mutation_p.R94Q|GRIK1_ENST00000309434.7_Missense_Mutation_p.R94Q|GRIK1_ENST00000389125.3_Missense_Mutation_p.R94Q|GRIK1_ENST00000327783.4_Missense_Mutation_p.R94Q|GRIK1_ENST00000399913.1_Missense_Mutation_p.R94Q|GRIK1_ENST00000389124.2_Missense_Mutation_p.R94Q|GRIK1_ENST00000535441.1_Missense_Mutation_p.R94Q	NM_000830.3	NP_000821.1	P39086	GRIK1_HUMAN	glutamate receptor, ionotropic, kainate 1	94					adult behavior (GO:0030534)|behavioral response to pain (GO:0048266)|central nervous system development (GO:0007417)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|nervous system development (GO:0007399)|positive regulation of gamma-aminobutyric acid secretion (GO:0014054)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	extracellular-glutamate-gated ion channel activity (GO:0005234)|kainate selective glutamate receptor activity (GO:0015277)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(18)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	45					Topiramate(DB00273)	GTTACCTCTCCGCGAGGCTTC	0.433																																						ENST00000399914.1																			0				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(18)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	45						c.(280-282)cGg>cAg		glutamate receptor, ionotropic, kainate 1	L-Glutamic Acid(DB00142)|Topiramate(DB00273)	C	GLN/ARG,GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	109	107	108		281,281	4.2	1	21		108	0,8600		0,0,4300	no	missense,missense	GRIK1	NM_000830.3,NM_175611.2	43,43	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging,probably-damaging	94/919,94/906	31066220	1,13005	2203	4300	6503	SO:0001583	missense	2897				central nervous system development|synaptic transmission	cell junction|postsynaptic membrane	kainate selective glutamate receptor activity	g.chr21:31066220C>T		CCDS33530.1, CCDS42913.1	21q22	2012-08-29			ENSG00000171189	ENSG00000171189		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4579	protein-coding gene	gene with protein product		138245		GLUR5		8468067	Standard	XM_005260942		Approved	GluK1	uc002yno.1	P39086	OTTHUMG00000078879	ENST00000399907.1:c.281G>A	21.37:g.31066220C>T	ENSP00000382791:p.Arg94Gln					GRIK1_ENST00000309434.7_Missense_Mutation_p.R94Q|GRIK1_ENST00000389124.2_Missense_Mutation_p.R94Q|GRIK1_ENST00000389125.3_Missense_Mutation_p.R94Q|GRIK1_ENST00000327783.4_Missense_Mutation_p.R94Q|GRIK1_ENST00000399913.1_Missense_Mutation_p.R94Q|GRIK1_ENST00000399907.1_Missense_Mutation_p.R94Q|GRIK1_ENST00000535441.1_Missense_Mutation_p.R94Q|GRIK1_ENST00000399909.1_Missense_Mutation_p.R94Q|GRIK1_ENST00000472429.1_5'UTR	p.R94Q			P39086	GRIK1_HUMAN			2	802	-			94					Q13001|Q86SU9	Missense_Mutation	SNP	ENST00000399907.1	37	c.281G>A	CCDS42913.1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.287780	0.80803	2.27E-4	0.0	ENSG00000171189	ENST00000327783;ENST00000389125;ENST00000399913;ENST00000399914;ENST00000535441;ENST00000389124;ENST00000399907;ENST00000399909;ENST00000309434	D;D;D;D;D;D;D;D;D	0.82344	-1.6;-1.6;-1.6;-1.6;-1.6;-1.6;-1.6;-1.6;-1.6	5.13	4.25	0.50352	Extracellular ligand-binding receptor (1);	0.000000	0.85682	D	0.000000	T	0.80727	0.4678	L	0.35723	1.085	0.58432	D	0.999998	D;D;P;D	0.55800	0.973;0.973;0.951;0.967	P;P;P;B	0.49276	0.605;0.605;0.509;0.375	T	0.82608	-0.0373	10	0.66056	D	0.02	.	13.4029	0.60893	0.0:0.9237:0.0:0.0763	.	94;94;94;94	E9PD61;B7Z3V7;P39086;P39086-2	.;.;GRIK1_HUMAN;.	Q	94	ENSP00000327687:R94Q;ENSP00000373777:R94Q;ENSP00000382797:R94Q;ENSP00000382798:R94Q;ENSP00000446326:R94Q;ENSP00000373776:R94Q;ENSP00000382791:R94Q;ENSP00000382793:R94Q;ENSP00000311646:R94Q	ENSP00000311646:R94Q	R	-	2	0	GRIK1	29988091	1.000000	0.71417	0.984000	0.44739	0.972000	0.66771	7.569000	0.82380	1.394000	0.46624	0.655000	0.94253	CGG		0.433	GRIK1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000171979.1			24	52	0	0	0	1	0	24	52					T	31066220	C	T	31066220	3	4	236	1	0	0	0	0	1	0	0	0	6773	652	23	2	2699	2	GRIK1	21	31066220	Missense_Mutation	SNP	C	TCGA-HC-8264-01B-11D-2395-08		31066220	17063675	40	10998											
ITSN1	6453	broad.mit.edu	37	chr21	35237515	35237515	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgtgaagatgattggagaCatcctgagcgcacagctgcc	10	8	12	11	1	0	5	0	3	0	2	1	6	1	5	3	1	3	2	3	1	1	1			TCGA-HC-8264-01B-11D-2395-08	TCGA-HC-8264-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80ed0e60-9bf6-4407-9f9c-108672829690	50901c39-beb1-4a69-a21b-7ea825f55510	g.chr21:35237515C>T	ENST00000381318.3	+	32	4239	c.3951C>T	c.(3949-3951)gaC>gaT	p.D1317D	ITSN1_ENST00000437442.2_Silent_p.D1312D|AP000304.12_ENST00000429238.1_Intron|ITSN1_ENST00000399367.3_Silent_p.D1312D|ITSN1_ENST00000381285.4_Silent_p.D1317D|ITSN1_ENST00000399326.3_3'UTR	NM_003024.2	NP_003015.2	Q15811	ITSN1_HUMAN	intersectin 1 (SH3 domain protein)	1317	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				apoptotic signaling pathway (GO:0097190)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|synaptic vesicle endocytosis (GO:0048488)	cell junction (GO:0030054)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|lamellipodium (GO:0030027)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)	calcium ion binding (GO:0005509)|guanyl-nucleotide exchange factor activity (GO:0005085)|kinase activator activity (GO:0019209)|proline-rich region binding (GO:0070064)|protein complex scaffold (GO:0032947)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(26)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	67						TGATTGGAGACATCCTGAGCG	0.617																																						ENST00000381318.3																			0				breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(26)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	67						c.(3949-3951)gaC>gaT		intersectin 1 (SH3 domain protein)							60	44	49					21																	35237515		2203	4300	6503	SO:0001819	synonymous_variant	6453				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic vesicle endocytosis	cell junction|coated pit|cytosol|lamellipodium|synapse|synaptosome	calcium ion binding|proline-rich region binding|protein complex scaffold|Rho guanyl-nucleotide exchange factor activity	g.chr21:35237515C>T	AF064244	CCDS33545.1, CCDS33546.1	21q22.1-q22.2	2013-01-10			ENSG00000205726	ENSG00000205726		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing", "EF-hand domain containing"	6183	protein-coding gene	gene with protein product	"SH3 domain protein-1A", "human intersectin-SH3 domain-containing protein SH3P17", "Src homology 3 domain-containing protein", "intersectin 1 short form variant, 11", "intersectin 1 short form variant 3", "intersectin short variant 12"	602442		SH3D1A, ITSN		9799604, 9813051	Standard	NM_003024		Approved	SH3P17, MGC134948, MGC134949	uc002yta.1	Q15811	OTTHUMG00000065284	ENST00000381318.3:c.3951C>T	21.37:g.35237515C>T						ITSN1_ENST00000399367.3_Silent_p.D1312D|ITSN1_ENST00000399326.3_3'UTR|ITSN1_ENST00000381285.4_Silent_p.D1317D|AP000304.12_ENST00000429238.1_Intron|ITSN1_ENST00000437442.2_Silent_p.D1312D	p.D1317D	NM_003024.2	NP_003015.2	Q15811	ITSN1_HUMAN			32	4239	+			1317			DH.		A7Y322|A8CTX8|A8CTY3|A8CTY7|A8D7D0|A8DCP3|B4DTM2|E7ERJ1|E9PE44|E9PG01|E9PHV2|O95216|Q0PW94|Q0PW95|Q0PW97|Q14BD3|Q1ED40|Q20BK3|Q9UET5|Q9UK60|Q9UNK1|Q9UNK2|Q9UQ92	Silent	SNP	ENST00000381318.3	37	c.3951C>T	CCDS33545.1	.	.	.	.	.	.	.	.	.	.	C	7.322	0.617208	0.14129	.	.	ENSG00000205726	ENST00000381284	.	.	.	5.78	4.89	0.63831	.	.	.	.	.	T	0.64068	0.2565	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.61038	-0.7143	4	.	.	.	.	12.4845	0.55863	0.0:0.8681:0.0:0.1319	.	.	.	.	Y	53	.	.	H	+	1	0	ITSN1	34159385	1.000000	0.71417	1.000000	0.80357	0.628000	0.37860	2.264000	0.43302	2.726000	0.93360	0.561000	0.74099	CAT		0.617	ITSN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000140070.4	NM_003024		7	26	0	0	0	1	0	7	26					T	35237515	C	T	35237515	2	4	236	1	0	0	0	0	0	0	0	1	7926	477	17	3		3	ITSN1	21	35237515	Silent	SNP	C	TCGA-HC-8264-01B-11D-2395-08	4171295	35237515	12892380	41	10999											
DMD	1756	broad.mit.edu	37	chrX	31986568	31986568	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgaggattgctgaattatttCttccccagttgcattcaatg	9	16	8	8	0	2	2	1	2	1	0	3	3	3	3	2	1	2	3	2	1	3	6			TCGA-HC-8264-01B-11D-2395-08	TCGA-HC-8264-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80ed0e60-9bf6-4407-9f9c-108672829690	50901c39-beb1-4a69-a21b-7ea825f55510	g.chrX:31986568C>G	ENST00000357033.4	-	45	6708	c.6502G>C	c.(6502-6504)Gaa>Caa	p.E2168Q	DMD_ENST00000378707.3_5'UTR|DMD_ENST00000359836.1_5'UTR|DMD_ENST00000474231.1_5'UTR|DMD_ENST00000378677.2_Missense_Mutation_p.E2164Q|DMD_ENST00000541735.1_5'UTR|DMD_ENST00000343523.2_5'UTR	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	2168					cardiac muscle cell action potential (GO:0086001)|cardiac muscle contraction (GO:0060048)|cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|extracellular matrix organization (GO:0030198)|motile cilium assembly (GO:0044458)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|peptide biosynthetic process (GO:0043043)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of heart rate (GO:0002027)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of skeletal muscle contraction (GO:0014819)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|regulation of voltage-gated calcium channel activity (GO:1901385)	cell junction (GO:0030054)|cell surface (GO:0009986)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dystrophin-associated glycoprotein complex (GO:0016010)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|syntrophin complex (GO:0016013)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|dystroglycan binding (GO:0002162)|myosin binding (GO:0017022)|nitric-oxide synthase binding (GO:0050998)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				TGAATTATTTCTTCCCCAGTT	0.448																																						ENST00000357033.4																			0				NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77						c.(6502-6504)Gaa>Caa		dystrophin							98	86	90					X																	31986568		2202	4300	6502	SO:0001583	missense	1756				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding	g.chrX:31986568C>G	AF047505	CCDS14231.1, CCDS14232.1, CCDS14233.1, CCDS14234.1, CCDS48091.1, CCDS55394.1, CCDS55395.1, CCDS75965.1	Xp21.2	2014-09-17	2008-08-01		ENSG00000198947	ENSG00000198947			2928	protein-coding gene	gene with protein product	"muscular dystrophy, Duchenne and Becker types"	300377	"dystrophin (muscular dystrophy, Duchenne and Becker types), includes DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272", "mental retardation, X-linked 85"	MRX85		3282674, 3607877, 23900271	Standard	NM_004019		Approved	BMD, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272	uc004dda.1	P11532	OTTHUMG00000021336	ENST00000357033.4:c.6502G>C	X.37:g.31986568C>G	ENSP00000354923:p.Glu2168Gln					DMD_ENST00000541735.1_5'UTR|DMD_ENST00000378707.3_5'UTR|DMD_ENST00000343523.2_5'UTR|DMD_ENST00000474231.1_5'UTR|DMD_ENST00000359836.1_5'UTR|DMD_ENST00000378677.2_Missense_Mutation_p.E2164Q	p.E2168Q	NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN			45	6708	-		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)	2168					E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Missense_Mutation	SNP	ENST00000357033.4	37	c.6502G>C	CCDS14233.1	.	.	.	.	.	.	.	.	.	.	C	19.37	3.814906	0.70912	.	.	ENSG00000198947	ENST00000534884;ENST00000378682;ENST00000378684;ENST00000378677;ENST00000357033;ENST00000542849;ENST00000535280	T;T	0.50277	0.75;0.75	5.37	5.37	0.77165	.	0.000000	0.35936	U	0.002891	T	0.59865	0.2225	L	0.51422	1.61	0.80722	D	1	B;P;P;P;D;B	0.56287	0.291;0.59;0.476;0.643;0.975;0.415	B;B;B;P;P;B	0.57371	0.132;0.384;0.326;0.518;0.819;0.417	T	0.59080	-0.7521	10	0.44086	T	0.13	.	18.2351	0.89947	0.0:1.0:0.0:0.0	.	827;2160;2168;2164;827;824	P11532-2;P11532-4;P11532;E9PDN5;E7EQS7;E7EQS6	.;.;DMD_HUMAN;.;.;.	Q	2160;827;824;2164;2168;2168;2045	ENSP00000367948:E2164Q;ENSP00000354923:E2168Q	ENSP00000354923:E2168Q	E	-	1	0	DMD	31896489	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	5.677000	0.68142	2.244000	0.73946	0.538000	0.68166	GAA		0.448	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056182.2	NM_004006		12	26	0	0	0	1	0	12	26					G	31986568	C	G	31986568	3	3	236	1	0	0	0	0	1	0	0	0	4580	922	32	5	4843	5	DMD	23	31986568	Missense_Mutation	SNP	C	TCGA-HC-8264-01B-11D-2395-08		31986568	123283992	42	11000											
SLC16A2	6567	broad.mit.edu	37	chrX	73740921	73740921	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgccgaatcacagcaaccgCgggggctgccgttgctttca	7	8	12	14	4	2	0	2	0	0	0	2	1	2	0	3	2	5	4	3	2	2	2			TCGA-HC-8264-01B-11D-2395-08	TCGA-HC-8264-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80ed0e60-9bf6-4407-9f9c-108672829690	50901c39-beb1-4a69-a21b-7ea825f55510	g.chrX:73740921C>T	ENST00000587091.1	+	2	704	c.527C>T	c.(526-528)gCg>gTg	p.A176V	SLC16A2_ENST00000276033.5_Missense_Mutation_p.A250V	NM_006517.4	NP_006508.2	P36021	MOT8_HUMAN	solute carrier family 16, member 2 (thyroid hormone transporter)	176					monocarboxylic acid transport (GO:0015718)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	monocarboxylic acid transmembrane transporter activity (GO:0008028)|symporter activity (GO:0015293)|transporter activity (GO:0005215)			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|skin(2)	21					L-Leucine(DB00149)|L-Tryptophan(DB00150)|L-Tyrosine(DB00135)|Levothyroxine(DB00451)|Liotrix(DB01583)|Pyruvic acid(DB00119)	ACAGCAACCGCGGGGGCTGCC	0.532																																						ENST00000276033.5																			0				breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|skin(2)	21						c.(748-750)gCg>gTg		solute carrier family 16, member 2 (thyroid hormone transporter)	Pyruvic acid(DB00119)						85	77	80					X																	73740921		2203	4300	6503	SO:0001583	missense	6567					integral to plasma membrane|membrane fraction	monocarboxylic acid transmembrane transporter activity|symporter activity	g.chrX:73740921C>T		CCDS14426.1, CCDS14426.2	Xq13.2	2013-05-22	2012-03-20		ENSG00000147100	ENSG00000147100		"Solute carriers"	10923	protein-coding gene	gene with protein product		300095	"solute carrier family 16 (monocarboxylic acid transporters), member 2 (putative transporter)", "Allan-Herndon-Dudley syndrome", "solute carrier family 16 (monocarboxylic acid transporters), member 2", "mental retardation, X-linked 22", "solute carrier family 16, member 2 (monocarboxylic acid transporter 8)"	DXS128, AHDS, MRX22		7981683, 12871948, 15889350	Standard	NM_006517		Approved	XPCT, MCT8, MCT7	uc031tjy.1	P36021	OTTHUMG00000021857	ENST00000587091.1:c.527C>T	X.37:g.73740921C>T	ENSP00000465734:p.Ala176Val					SLC16A2_ENST00000587091.1_Missense_Mutation_p.A176V	p.A250V			P36021	MOT8_HUMAN			2	915	+			176					Q7Z797	Missense_Mutation	SNP	ENST00000587091.1	37	c.749C>T	CCDS14426.2	.	.	.	.	.	.	.	.	.	.	C	3.299	-0.143233	0.06669	.	.	ENSG00000147100	ENST00000276033	T	0.25912	1.77	5.7	4.84	0.62591	Major facilitator superfamily domain, general substrate transporter (1);	0.610379	0.17653	N	0.166621	T	0.11196	0.0273	N	0.12182	0.205	0.09310	N	1	B	0.17852	0.024	B	0.17722	0.019	T	0.37079	-0.9721	10	0.02654	T	1	.	6.7098	0.23270	0.0:0.6924:0.1448:0.1628	.	176	P36021	MOT8_HUMAN	V	250	ENSP00000276033:A250V	ENSP00000276033:A250V	A	+	2	0	SLC16A2	73657646	0.042000	0.20092	0.421000	0.26609	0.762000	0.43233	2.485000	0.45250	1.166000	0.42689	0.597000	0.82753	GCG		0.532	SLC16A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057266.3			23	14	0	0	0	1	0	23	14					T	73740921	C	T	73740921	3	4	236	1	0	0	0	0	1	0	0	0	14408	768	27	1	755	1	SLC16A2	23	73740921	Missense_Mutation	SNP	C	TCGA-HC-8264-01B-11D-2395-08	41754353	73740921	81529639	43	11001											
RPS6KA6	27330	broad.mit.edu	37	chrX	83411191	83411194	+	Frame_Shift_Del	DEL	TCCT	TCCT	-																															atagggatttctttaacaacTccttcatcctgtaaaaagaa																										TCGA-HC-8264-01B-11D-2395-08	TCGA-HC-8264-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80ed0e60-9bf6-4407-9f9c-108672829690	50901c39-beb1-4a69-a21b-7ea825f55510	g.chrX:83411191_83411194delTCCT	ENST00000262752.2	-	3	154_157	c.147_150delAGGA	c.(145-150)gaaggafs	p.EG49fs	RPS6KA6_ENST00000543399.1_Frame_Shift_Del_p.EG49fs	NM_014496.4	NP_055311.1	Q9UK32	KS6A6_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 6	49					axon guidance (GO:0007411)|central nervous system development (GO:0007417)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|negative regulation of embryonic development (GO:0045992)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of mesoderm development (GO:2000381)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(26)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	46						CTTTAACAACTCCTTCATCCTGTA	0.358																																						ENST00000262752.2																			0				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(26)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	46						c.(145-150)gafs		ribosomal protein S6 kinase, 90kDa, polypeptide 6																																				SO:0001589	frameshift_variant	27330				axon guidance|central nervous system development|intracellular protein kinase cascade|synaptic transmission	cytosol|nucleoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chrX:83411191_83411194delTCCT	AF184965	CCDS14451.1	Xq21.1	2011-04-05	2002-08-29		ENSG00000072133	ENSG00000072133			10435	protein-coding gene	gene with protein product		300303	"ribosomal protein S6 kinase, 90kD, polypeptide 6"			10644430	Standard	NM_014496		Approved	RSK4	uc004eej.2	Q9UK32	OTTHUMG00000021923	ENST00000262752.2:c.147_150delAGGA	X.37:g.83411191_83411194delTCCT	ENSP00000262752:p.Glu49fs					RPS6KA6_ENST00000543399.1_Frame_Shift_Del_p.EG49fs	p.EG49fs	NM_014496.4	NP_055311.1	Q9UK32	KS6A6_HUMAN			3	154_157	-			49					B2R854|B7ZL90|Q6FHX2|Q8WX28|Q9H4S6	Frame_Shift_Del	DEL	ENST00000262752.2	37	c.147_150delAGGA	CCDS14451.1																																																																																				0.358	RPS6KA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057372.1	NM_014496		4	8						4	8	---	---	---	---	-	83411194	TCCT	-	83411191	7	5	236	1	0	1	0	1	0	0	0	0	13655	1538	54	0	2167	0	RPS6KA6	23	83411191	Frame_Shift_Del	DEL	TCCT	TCGA-HC-8264-01B-11D-2395-08	9670270	83411191	71859369	44	11002											
AFF2	2334	broad.mit.edu	37	chrX	148037365	148037365	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctcattagggagaaagcccGtccacggcccactcagaaaa	13	6	9	13	2	2	2	2	0	1	2	4	3	3	2	3	2	1	0	3	2	4	1			TCGA-HC-8264-01B-11D-2395-08	TCGA-HC-8264-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80ed0e60-9bf6-4407-9f9c-108672829690	50901c39-beb1-4a69-a21b-7ea825f55510	g.chrX:148037365G>A	ENST00000370460.2	+	11	2269	c.1790G>A	c.(1789-1791)cGt>cAt	p.R597H	AFF2_ENST00000370457.5_Missense_Mutation_p.R564H|AFF2_ENST00000342251.3_Missense_Mutation_p.R564H|AFF2_ENST00000286437.5_Missense_Mutation_p.R238H	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN	AF4/FMR2 family, member 2	597					brain development (GO:0007420)|learning or memory (GO:0007611)|mRNA processing (GO:0006397)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nuclear speck (GO:0016607)	G-quadruplex RNA binding (GO:0002151)	p.R597H(3)|p.R238H(1)		breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					GAGAAAGCCCGTCCACGGCCC	0.468																																						ENST00000370460.2																			4	Substitution - Missense(4)	p.R597H(3)|p.R238H(1)	prostate(4)	breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109						c.(1789-1791)cGt>cAt		AF4/FMR2 family, member 2							97	100	99					X																	148037365		2203	4300	6503	SO:0001583	missense	2334				brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding	g.chrX:148037365G>A	U48436	CCDS14684.1, CCDS55521.1, CCDS76040.1	Xq28	2008-02-05	2005-06-27	2005-06-27	ENSG00000155966	ENSG00000155966			3776	protein-coding gene	gene with protein product		300806	"fragile X mental retardation 2"	FMR2			Standard	NM_002025		Approved	FRAXE	uc004fcp.3	P51816	OTTHUMG00000022613	ENST00000370460.2:c.1790G>A	X.37:g.148037365G>A	ENSP00000359489:p.Arg597His					AFF2_ENST00000342251.3_Missense_Mutation_p.R564H|AFF2_ENST00000286437.5_Missense_Mutation_p.R238H|AFF2_ENST00000370457.5_Missense_Mutation_p.R564H	p.R597H	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN			11	2269	+	Acute lymphoblastic leukemia(192;6.56e-05)		597					A2RTY4|B4DXD5|B7WNQ1|B7ZLD6|B7ZLD9|O43786|O60215|P78407|Q13521|Q14323|Q7Z2F7|Q7Z400|Q9UNA5	Missense_Mutation	SNP	ENST00000370460.2	37	c.1790G>A	CCDS14684.1	.	.	.	.	.	.	.	.	.	.	G	12.76	2.035694	0.35893	.	.	ENSG00000155966	ENST00000370460;ENST00000370457;ENST00000342251;ENST00000286437	T;T;T;T	0.66815	-0.23;-0.23;-0.23;-0.23	5.5	4.62	0.57501	.	0.064020	0.64402	D	0.000009	T	0.72447	0.3461	M	0.77313	2.365	0.29780	N	0.83405	D;D;D;D;D;D	0.58620	0.983;0.979;0.979;0.979;0.979;0.983	P;P;P;P;P;P	0.55087	0.685;0.557;0.557;0.557;0.657;0.768	T	0.71533	-0.4564	10	0.49607	T	0.09	.	4.3047	0.10940	0.2164:0.1943:0.5893:0.0	.	238;562;564;558;587;597	B4DXD5;P51816-6;P51816-3;P51816-2;P51816-5;P51816	.;.;.;.;.;AFF2_HUMAN	H	597;564;564;238	ENSP00000359489:R597H;ENSP00000359486:R564H;ENSP00000345459:R564H;ENSP00000286437:R238H	ENSP00000286437:R238H	R	+	2	0	AFF2	147845065	1.000000	0.71417	0.632000	0.29296	0.000000	0.00434	4.345000	0.59360	1.074000	0.40909	-0.283000	0.09986	CGT		0.468	AFF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058673.2	NM_002025		55	23	0	0	0	1	0	55	23					A	148037365	G	A	148037365	3	1	236	1	0	0	0	0	1	0	0	0	357	1145	40	1	1887	1	AFF2	23	148037365	Missense_Mutation	SNP	G	TCGA-HC-8264-01B-11D-2395-08	64626174	148037365	7233195	45	11003											
HCFC1	3054	broad.mit.edu	37	chrX	153222853	153222853	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttggtggtactgggggagacGctgctgatgcccaggatggt	6	10	18	7	1	0	2	0	1	0	1	0	4	0	3	1	6	3	3	1	6	1	2	rs201977456		TCGA-HC-8264-01B-11D-2395-08	TCGA-HC-8264-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80ed0e60-9bf6-4407-9f9c-108672829690	50901c39-beb1-4a69-a21b-7ea825f55510	g.chrX:153222853G>A	ENST00000310441.7	-	13	3231	c.2265C>T	c.(2263-2265)agC>agT	p.S755S	HCFC1_ENST00000354233.3_Silent_p.S686S|HCFC1_ENST00000461098.1_5'Flank|HCFC1_ENST00000369984.4_Silent_p.S755S	NM_005334.2	NP_005325.2	P51610	HCFC1_HUMAN	host cell factor C1	755	Interaction with ZBTB17.				cell cycle (GO:0007049)|chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell cycle (GO:0045787)|positive regulation of gene expression (GO:0010628)|protein stabilization (GO:0050821)|regulation of protein complex assembly (GO:0043254)|regulation of transcription, DNA-templated (GO:0006355)|release from viral latency (GO:0019046)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|membrane (GO:0016020)|mitochondrion (GO:0005739)|MLL1 complex (GO:0071339)|MLL5-L complex (GO:0070688)|neuronal cell body (GO:0043025)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)	chromatin binding (GO:0003682)|identical protein binding (GO:0042802)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			NS(1)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(3)|large_intestine(3)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TGGGGGAGACGCTGCTGATGC	0.647													G|||	1	0.000264901	0	0	3775	,	,		13282	0		0.001	False		,,,				2504	0					ENST00000310441.7																			0				NS(1)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(3)|large_intestine(3)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						c.(2263-2265)agC>agT		host cell factor C1 (VP16-accessory protein)							110	119	116					X																	153222853		2166	4218	6384	SO:0001819	synonymous_variant	3054				cell cycle|interspecies interaction between organisms|positive regulation of cell cycle|positive regulation of gene expression|protein stabilization|reactivation of latent virus|regulation of protein complex assembly|transcription from RNA polymerase II promoter	mitochondrion|MLL1 complex|MLL5-L complex|Set1C/COMPASS complex	chromatin binding|identical protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chrX:153222853G>A		CCDS44020.1	Xq28	2014-06-12	2014-06-09		ENSG00000172534	ENSG00000172534			4839	protein-coding gene	gene with protein product	"VP16-accessory protein", "protein phosphatase 1, regulatory subunit 89"	300019	"mental retardation, X-linked 3", "host cell factor C1 (VP16-accessory protein)"	HFC1, MRX3		8392914, 23000143	Standard	XM_005274664		Approved	HCF-1, HCF1, CFF, VCAF, MGC70925, PPP1R89	uc004fjp.3	P51610	OTTHUMG00000024222	ENST00000310441.7:c.2265C>T	X.37:g.153222853G>A						HCFC1_ENST00000354233.3_Silent_p.S686S|HCFC1_ENST00000369984.4_Silent_p.S755S	p.S755S	NM_005334.2	NP_005325.2	P51610	HCFC1_HUMAN			13	3231	-	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		755			Interaction with ZBTB17.		Q6P4G5	Silent	SNP	ENST00000310441.7	37	c.2265C>T	CCDS44020.1																																																																																				0.647	HCFC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061099.4	NM_005334		100	46	0	0	0	1	0	100	46					A	153222853	G	A	153222853	2	1	236	1	0	0	0	0	0	0	0	1	6991	1078	38	1		1	HCFC1	23	153222853	Silent	SNP	G	TCGA-HC-8264-01B-11D-2395-08	5185488	153222853	2047707	46	11004											
ALG14	199857	broad.mit.edu	37	chr1	95538385	95538385	+	Frame_Shift_Del	DEL	C	C	-																															gtccatggaacgaagcactaCccatattcgcaggattagga																										TCGA-HC-8265-01A-11D-2260-08	TCGA-HC-8265-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d96380bd-80d2-4c64-ae3f-6f886936204e	ece936c5-0f53-4010-9e99-8091c679d15b	g.chr1:95538385delC	ENST00000370205.5	-	1	116	c.70delG	c.(70-72)gtafs	p.V25fs	ALG14_ENST00000495856.1_5'UTR	NM_144988.3	NP_659425.1	Q96F25	ALG14_HUMAN	ALG14, UDP-N-acetylglucosaminyltransferase subunit	25					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)				endometrium(2)|large_intestine(1)|lung(2)|pancreas(1)	6		all_lung(203;0.0232)|Lung NSC(277;0.0739)		all cancers(265;0.0615)|Epithelial(280;0.139)		CGAAGCACTACCCATATTCGC	0.577																																						ENST00000370205.4																			0				endometrium(2)|large_intestine(1)|lung(2)|pancreas(1)	6						c.(70-72)tafs		ALG14, UDP-N-acetylglucosaminyltransferase subunit							109	100	103					1																	95538385		2203	4300	6503	SO:0001589	frameshift_variant	199857				dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase activity	g.chr1:95538385delC		CCDS752.1	1p21.3	2013-02-21	2013-02-21		ENSG00000172339	ENSG00000172339			28287	protein-coding gene	gene with protein product		612866	"asparagine-linked glycosylation 14 homolog (yeast)", "asparagine-linked glycosylation 14 homolog (S. cerevisiae)"			15615718	Standard	NM_144988		Approved	MGC19780	uc001dra.2	Q96F25	OTTHUMG00000010781	ENST00000370205.5:c.70delG	1.37:g.95538385delC	ENSP00000359224:p.Val25fs					ALG14_ENST00000495856.1_5'UTR	p.V25fs	NM_144988.3	NP_659425.1	Q96F25	ALG14_HUMAN		all cancers(265;0.0615)|Epithelial(280;0.139)	1	116	-		all_lung(203;0.0232)|Lung NSC(277;0.0739)	25					A8K030	Frame_Shift_Del	DEL	ENST00000370205.5	37	c.70delG	CCDS752.1																																																																																				0.577	ALG14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029699.2	NM_144988		9	146						9	146	---	---	---	---	-	95538385	C	-	95538385	7	5	237	1	0	1	0	1	0	0	0	0	516	507	18	0	596	0	ALG14	1	95538385	Frame_Shift_Del	DEL	C	TCGA-HC-8265-01A-11D-2260-08		95538385	153712236	1	11005											
KCNT2	343450	broad.mit.edu	37	chr1	196274364	196274364	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgataatgtggggtcttacCttttccagttttgaaagagc	9	16	10	6	0	1	3	0	2	1	1	2	3	2	3	2	2	2	1	2	2	3	7			TCGA-HC-8265-01A-11D-2260-08	TCGA-HC-8265-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d96380bd-80d2-4c64-ae3f-6f886936204e	ece936c5-0f53-4010-9e99-8091c679d15b	g.chr1:196274364C>A	ENST00000294725.9	-	22	3510	c.2595G>T	c.(2593-2595)aaG>aaT	p.K865N	KCNT2_ENST00000498426.1_5'UTR|KCNT2_ENST00000451324.2_Intron|KCNT2_ENST00000367433.5_Splice_Site_p.K841N|KCNT2_ENST00000367431.4_Splice_Site_p.K791N|KCNT2_ENST00000609185.1_Splice_Site_p.K791N			Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	865					potassium ion transmembrane transport (GO:0071805)	voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|calcium-activated potassium channel activity (GO:0015269)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						GGGGTCTTACCTTTTCCAGTT	0.338																																						ENST00000367433.5																			0				NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						c.e21+1		potassium channel, subfamily T, member 2							115	107	110					1																	196274364		2203	4300	6503	SO:0001630	splice_region_variant	343450					voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity	g.chr1:196274364C>A	BX647852, AY359444, AK127807	CCDS1384.1, CCDS72994.1, CCDS72995.1	1q31.3	2012-07-05			ENSG00000162687	ENSG00000162687		"Potassium channels", "Voltage-gated ion channels / Potassium channels, calcium-activated"	18866	protein-coding gene	gene with protein product	"sodium and chloride activated ATP sensitive potassium channel"	610044				16382103	Standard	NM_198503		Approved	KCa4.2, SLICK, SLO2.1	uc001gtd.1	Q6UVM3	OTTHUMG00000035611	ENST00000294725.9:c.2595+1G>T	1.37:g.196274364C>A						KCNT2_ENST00000498426.1_5'UTR|KCNT2_ENST00000294725.8_Splice_Site_p.K865_splice|KCNT2_ENST00000367431.4_Splice_Site_p.K791_splice|KCNT2_ENST00000451324.2_Intron	p.K841_splice			Q6UVM3	KCNT2_HUMAN			21	2624	-			865					Q3SY59|Q5VTN1|Q6ZMT3	Splice_Site	SNP	ENST00000294725.9	37	c.2523_splice	CCDS1384.1	.	.	.	.	.	.	.	.	.	.	C	24.0	4.477753	0.84640	.	.	ENSG00000162687	ENST00000367433;ENST00000367431;ENST00000294725	T;T;T	0.79033	-1.23;-1.23;-1.23	4.54	4.54	0.55810	.	0.096198	0.45606	D	0.000354	T	0.82038	0.4950	L	0.49778	1.585	0.80722	D	1	P;P;P;P;P	0.52577	0.871;0.954;0.954;0.954;0.871	B;P;P;P;B	0.55871	0.342;0.786;0.771;0.786;0.342	T	0.81180	-0.1050	9	.	.	.	-13.6504	17.8249	0.88662	0.0:1.0:0.0:0.0	.	865;823;841;791;865	A9LNM6;Q6UVM3-4;Q6UVM3-2;Q6UVM3-3;Q6UVM3	.;.;.;.;KCNT2_HUMAN	N	841;791;865	ENSP00000356403:K841N;ENSP00000356401:K791N;ENSP00000294725:K865N	.	K	-	3	2	KCNT2	194540987	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.589000	0.82641	2.511000	0.84671	0.650000	0.86243	AAG		0.338	KCNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086418.2	NM_198503	Missense_Mutation	3	33	1	0	0.00024832	1	0.000263072	3	33					A	196274364	C	A	196274364	5	1	237	1	0	0	0	0	0	0	1	0	8092	695	24	5	840	5	KCNT2	1	196274364	Splice_Site	SNP	C	TCGA-HC-8265-01A-11D-2260-08	100735979	196274364	52976257	2	11006											
OBSCN	84033	broad.mit.edu	37	chr1	228444583	228444583	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtcgccggggagtacagctGcgaggcggggagccagcggc	6	3	21	11	5	0	0	0	0	0	0	1	3	0	2	2	7	5	2	2	7	1	1			TCGA-HC-8265-01A-11D-2260-08	TCGA-HC-8265-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d96380bd-80d2-4c64-ae3f-6f886936204e	ece936c5-0f53-4010-9e99-8091c679d15b	g.chr1:228444583G>A	ENST00000422127.1	+	15	4585	c.4541G>A	c.(4540-4542)tGc>tAc	p.C1514Y	OBSCN_ENST00000570156.2_Missense_Mutation_p.C1606Y|OBSCN_ENST00000359599.6_Missense_Mutation_p.C78Y|OBSCN_ENST00000284548.11_Missense_Mutation_p.C1514Y|OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000366709.4_5'UTR	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	1514	Ig-like 15.				apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GAGTACAGCTGCGAGGCGGGG	0.647																																						ENST00000570156.2																			0				NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223						c.(4816-4818)tGc>tAc		obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF							39	47	45					1																	228444583		2048	4178	6226	SO:0001583	missense	84033				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	g.chr1:228444583G>A	AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"Rho guanine nucleotide exchange factors", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.4541G>A	1.37:g.228444583G>A	ENSP00000409493:p.Cys1514Tyr					OBSCN_ENST00000284548.11_Missense_Mutation_p.C1514Y|OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000359599.6_Missense_Mutation_p.C78Y|OBSCN_ENST00000422127.1_Missense_Mutation_p.C1514Y	p.C1606Y	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN			16	4891	+		Prostate(94;0.0405)	587			Ig-like 16.		Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Missense_Mutation	SNP	ENST00000422127.1	37	c.4817G>A	CCDS58065.1	.	.	.	.	.	.	.	.	.	.	.	15.80	2.939445	0.52972	.	.	ENSG00000154358	ENST00000284548;ENST00000422127;ENST00000359599	T;T;T	0.74842	2.15;2.15;-0.88	4.6	4.6	0.57074	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.89019	0.6596	M	0.91717	3.235	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.91635	0.998;0.999	D	0.91523	0.5236	10	0.59425	D	0.04	.	17.3927	0.87436	0.0:0.0:1.0:0.0	.	1514;1514	Q5VST9;Q5VST9-3	OBSCN_HUMAN;.	Y	1514;1514;78	ENSP00000284548:C1514Y;ENSP00000409493:C1514Y;ENSP00000352613:C78Y	ENSP00000284548:C1514Y	C	+	2	0	OBSCN	226511206	1.000000	0.71417	0.994000	0.49952	0.061000	0.15899	8.817000	0.91985	2.099000	0.63709	0.491000	0.48974	TGC		0.647	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843		15	39	0	0	0	1	0	15	39					A	228444583	G	A	228444583	3	1	237	1	0	0	0	0	1	0	0	0	10812	1319	46	3	4595	3	OBSCN	1	228444583	Missense_Mutation	SNP	G	TCGA-HC-8265-01A-11D-2260-08	32170219	228444583	20806038	3	11007											
POTEE	445582	broad.mit.edu	37	chr2	131976139	131976139	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccacgacgactctgctatgaAgacactcaggagcaagatgg	13	6	11	11	2	2	3	1	1	1	2	2	6	2	4	1	2	2	2	1	2	3	1			TCGA-HC-8265-01A-11D-2260-08	TCGA-HC-8265-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d96380bd-80d2-4c64-ae3f-6f886936204e	ece936c5-0f53-4010-9e99-8091c679d15b	g.chr2:131976139A>C	ENST00000356920.5	+	1	258	c.164A>C	c.(163-165)aAg>aCg	p.K55T	POTEE_ENST00000358087.5_Missense_Mutation_p.K55T|PLEKHB2_ENST00000303908.3_Intron|PLEKHB2_ENST00000404460.1_Intron	NM_001083538.1	NP_001077007.1	Q6S8J3	POTEE_HUMAN	POTE ankyrin domain family, member E	55					retina homeostasis (GO:0001895)|substantia nigra development (GO:0021762)	blood microparticle (GO:0072562)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)											TCTGCTATGAAGACACTCAGG	0.607																																						ENST00000356920.5																			0											c.(163-165)aAg>aCg		POTE ankyrin domain family, member E							152	154	154					2																	131976139		2203	4296	6499	SO:0001583	missense	445582						ATP binding	g.chr2:131976139A>C	AY462868	CCDS46414.1	2q21.1	2014-04-10	2008-11-26	2008-11-26	ENSG00000188219	ENSG00000188219		"POTE ankyrin domain containing", "Ankyrin repeat domain containing"	33895	protein-coding gene	gene with protein product	"cancer/testis antigen family 104, member 2"	608914	"ANKRD26-like family C, member 1A"	A26C1A			Standard	NM_001083538		Approved	POTE2, POTE-2, A26C1, POTE2gamma, CT104.2	uc002tsn.2	Q6S8J3	OTTHUMG00000186974	ENST00000356920.5:c.164A>C	2.37:g.131976139A>C	ENSP00000439189:p.Lys55Thr					PLEKHB2_ENST00000303908.3_Intron|PLEKHB2_ENST00000404460.1_Intron|POTEE_ENST00000358087.5_Missense_Mutation_p.K55T	p.K55T	NM_001083538.1	NP_001077007.1	Q6S8J3	POTEE_HUMAN			1	258	+			55					Q6S8J4|Q6S8J5|Q6S8J8	Missense_Mutation	SNP	ENST00000356920.5	37	c.164A>C	CCDS46414.1	.	.	.	.	.	.	.	.	.	.	.	7.191	0.591462	0.13812	.	.	ENSG00000188219	ENST00000356920;ENST00000358087	T;T	0.80480	-1.38;1.23	0.1	0.1	0.14510	.	.	.	.	.	T	0.68522	0.3010	N	0.19112	0.55	0.09310	N	1	P	0.39094	0.659	B	0.42959	0.403	T	0.60326	-0.7285	8	0.87932	D	0	.	.	.	.	.	55	Q6S8J3	POTEE_HUMAN	T	55	ENSP00000439189:K55T;ENSP00000443049:K55T	ENSP00000439189:K55T	K	+	2	0	AC131180.1	131692609	0.002000	0.14202	0.017000	0.16124	0.018000	0.09664	0.231000	0.17872	0.147000	0.19030	0.145000	0.16022	AAG		0.607	POTEE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001083538		15	266	0	0	0	1	0	15	266					C	131976139	A	C	131976139	3	2	237	1	0	0	0	0	1	0	0	0	12264	72	3	5	166	5	POTEE	2	131976139	Missense_Mutation	SNP	A	TCGA-HC-8265-01A-11D-2260-08		131976139	111223234	4	11008											
TTN	7273	broad.mit.edu	37	chr2	179397722	179397722	+	Nonsense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgcgtggctctggtacatcAtaaggcatccggagttttct	7	14	11	9	2	3	0	1	0	2	0	4	1	4	1	1	4	2	4	1	4	2	5			TCGA-HC-8265-01A-11D-2260-08	TCGA-HC-8265-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d96380bd-80d2-4c64-ae3f-6f886936204e	ece936c5-0f53-4010-9e99-8091c679d15b	g.chr2:179397722A>T	ENST00000591111.1	-	308	98921	c.98697T>A	c.(98695-98697)taT>taA	p.Y32899*	TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000589355.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000359218.5_Nonsense_Mutation_p.Y25600*|TTN-AS1_ENST00000587944.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000587568.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN_ENST00000589042.1_Nonsense_Mutation_p.Y34540*|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000460472.2_Nonsense_Mutation_p.Y25475*|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000604571.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Nonsense_Mutation_p.Y25667*|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000585625.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN_ENST00000342992.6_Nonsense_Mutation_p.Y31972*			Q8WZ42	TITIN_HUMAN	titin	32899					adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTGGTACATCATAAGGCATCC	0.438																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(103618-103620)taT>taA		titin							160	167	165					2																	179397722		2011	4181	6192	SO:0001587	stop_gained	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179397722A>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.98697T>A	2.37:g.179397722A>T	ENSP00000465570:p.Tyr32899*					TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Nonsense_Mutation_p.Y32899*|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000460472.2_Nonsense_Mutation_p.Y25475*|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN_ENST00000359218.5_Nonsense_Mutation_p.Y25600*|TTN_ENST00000342992.6_Nonsense_Mutation_p.Y31972*|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000342175.6_Nonsense_Mutation_p.Y25667*|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000592182.1_RNA	p.Y34540*	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		358	103844	-			32899					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Nonsense_Mutation	SNP	ENST00000591111.1	37	c.103620T>A		.	.	.	.	.	.	.	.	.	.	A	72	113.900151	0.99999	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	.	.	.	5.94	-4.0	0.04057	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	15.034	0.71731	0.4484:0.0:0.5516:0.0	.	.	.	.	X	31972;25475;25667;25600;25472	.	ENSP00000340554:Y25667X	Y	-	3	2	TTN	179105968	0.546000	0.26457	0.858000	0.33744	0.926000	0.56050	0.011000	0.13264	-0.610000	0.05716	-0.379000	0.06801	TAT		0.438	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		34	120	0	0	0	1	0	34	120					T	179397722	A	T	179397722	4	4	237	1	0	0	0	0	0	1	0	0	16732	224	8	5	4379	5	TTN	2	179397722	Nonsense_Mutation	SNP	A	TCGA-HC-8265-01A-11D-2260-08	47421583	179397722	63801651	5	11009											
STAT1	6772	broad.mit.edu	37	chr2	191862718	191862718	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gacattcagcaactctattaTtttgtgaactacttcctaaa	13	15	4	9	0	2	1	1	1	1	0	3	2	3	1	1	0	4	1	1	0	7	8			TCGA-HC-8265-01A-11D-2260-08	TCGA-HC-8265-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d96380bd-80d2-4c64-ae3f-6f886936204e	ece936c5-0f53-4010-9e99-8091c679d15b	g.chr2:191862718T>G	ENST00000361099.3	-	9	1036	c.649A>C	c.(649-651)Ata>Cta	p.I217L	STAT1_ENST00000392322.3_Missense_Mutation_p.I217L|STAT1_ENST00000409465.1_Missense_Mutation_p.I217L|STAT1_ENST00000540176.1_Missense_Mutation_p.N186T|STAT1_ENST00000392323.2_Missense_Mutation_p.I219L	NM_007315.3	NP_009330.1	P42224	STAT1_HUMAN	signal transducer and activator of transcription 1, 91kDa	217					apoptotic process (GO:0006915)|blood circulation (GO:0008015)|cellular response to insulin stimulus (GO:0032869)|cellular response to interferon-beta (GO:0035458)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|metanephric mesenchymal cell differentiation (GO:0072162)|metanephric mesenchymal cell proliferation involved in metanephros development (GO:0072136)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of macrophage fusion (GO:0034240)|negative regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003340)|negative regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072308)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of apoptotic process (GO:0042981)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|renal tubule development (GO:0061326)|response to cAMP (GO:0051591)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to exogenous dsRNA (GO:0043330)|response to hydrogen peroxide (GO:0042542)|response to mechanical stimulus (GO:0009612)|response to nutrient (GO:0007584)|response to peptide hormone (GO:0043434)|transcription from RNA polymerase II promoter (GO:0006366)|tumor necrosis factor-mediated signaling pathway (GO:0033209)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity (GO:0000983)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|tumor necrosis factor receptor binding (GO:0005164)			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39			OV - Ovarian serous cystadenocarcinoma(117;0.00434)|Epithelial(96;0.0555)|all cancers(119;0.141)			AACTCTATTATTTTGTGAACT	0.343																																						ENST00000361099.3																			0				autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						c.(649-651)Ata>Cta		signal transducer and activator of transcription 1, 91kDa	Fludarabine(DB01073)						70	68	68					2																	191862718		2203	4300	6503	SO:0001583	missense	6772				activation of caspase activity|I-kappaB kinase/NF-kappaB cascade|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway|tyrosine phosphorylation of STAT protein	cytosol|nucleolus|nucleoplasm	calcium ion binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr2:191862718T>G		CCDS2309.1, CCDS42793.1	2q32.2-q32.3	2014-09-17	2002-08-29		ENSG00000115415	ENSG00000115415		"SH2 domain containing"	11362	protein-coding gene	gene with protein product	"transcription factor ISGF-3 components p91/p84"	600555	"signal transducer and activator of transcription 1, 91kD"			7885841	Standard	NM_139266		Approved	STAT91, ISGF-3	uc002usj.2	P42224	OTTHUMG00000132699	ENST00000361099.3:c.649A>C	2.37:g.191862718T>G	ENSP00000354394:p.Ile217Leu					STAT1_ENST00000540176.1_Missense_Mutation_p.N186T|STAT1_ENST00000392322.3_Missense_Mutation_p.I217L|STAT1_ENST00000409465.1_Missense_Mutation_p.I217L|STAT1_ENST00000392323.2_Missense_Mutation_p.I219L	p.I217L	NM_007315.3	NP_009330.1	P42224	STAT1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00434)|Epithelial(96;0.0555)|all cancers(119;0.141)		9	1036	-			217					A8K989|B2RCA0|D2KFR8|D3DPI7|Q53S88|Q53XW4|Q68D00|Q9UDL5	Missense_Mutation	SNP	ENST00000361099.3	37	c.649A>C	CCDS2309.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	3.367|3.367	-0.129172|-0.129172	0.06753|0.06753	.|.	.|.	ENSG00000115415|ENSG00000115415	ENST00000361099;ENST00000409465;ENST00000392322;ENST00000392323;ENST00000544783|ENST00000540176	T;T;T;T|T	0.58060|0.61742	0.36;0.36;0.36;0.36|0.08	5.28|5.28	5.28|5.28	0.74379|0.74379	STAT transcription factor, all-alpha (2);STAT transcription factor, coiled coil (1);|.	0.220118|.	0.53938|.	D|.	0.000048|.	T|T	0.53932|0.53932	0.1827|0.1827	L|L	0.41573|0.41573	1.285|1.285	0.21782|0.21782	N|N	0.999544|0.999544	B;B|.	0.13145|.	0.007;0.001|.	B;B|.	0.13407|.	0.006;0.009|.	T|T	0.44757|0.44757	-0.9307|-0.9307	10|7	0.02654|0.13108	T|T	1|0.6	-18.7362|-18.7362	15.3876|15.3876	0.74714|0.74714	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	217;217|.	P42224-2;P42224|.	.;STAT1_HUMAN|.	L|T	217;217;217;219;125|186	ENSP00000354394:I217L;ENSP00000386244:I217L;ENSP00000376136:I217L;ENSP00000376137:I219L|ENSP00000438703:N186T	ENSP00000354394:I217L|ENSP00000394512:N186T	I|N	-|-	1|2	0|0	STAT1|STAT1	191570963|191570963	1.000000|1.000000	0.71417|0.71417	0.989000|0.989000	0.46669|0.46669	0.122000|0.122000	0.20287|0.20287	4.745000|4.745000	0.62125|0.62125	2.217000|2.217000	0.71921|0.71921	0.533000|0.533000	0.62120|0.62120	ATA|AAT		0.343	STAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255997.3	NM_007315		15	27	0	0	0	1	0	15	27					G	191862718	T	G	191862718	3	3	237	1	0	0	0	0	1	0	0	0	15263	1493	52	5	1675	5	STAT1	2	191862718	Missense_Mutation	SNP	T	TCGA-HC-8265-01A-11D-2260-08	12464996	191862718	51336655	6	11010											
LANCL1	10314	broad.mit.edu	37	chr2	211336687	211336687	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	agtcagcacttcatacctgcCcagccagtgtaaccggtgcc	9	8	9	15	1	2	0	2	0	0	0	2	0	2	0	5	1	6	2	5	1	2	3			TCGA-HC-8265-01A-11D-2260-08	TCGA-HC-8265-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d96380bd-80d2-4c64-ae3f-6f886936204e	ece936c5-0f53-4010-9e99-8091c679d15b	g.chr2:211336687C>T	ENST00000443314.1	-	2	537	c.195G>A	c.(193-195)tgG>tgA	p.W65*	AC007970.1_ENST00000416344.1_RNA|LANCL1_ENST00000233714.4_Nonsense_Mutation_p.W65*|LANCL1_ENST00000431941.2_Nonsense_Mutation_p.W65*|LANCL1_ENST00000441020.3_Nonsense_Mutation_p.W65*|LANCL1_ENST00000450366.2_Nonsense_Mutation_p.W65*			O43813	LANC1_HUMAN	LanC lantibiotic synthetase component C-like 1 (bacterial)	65					G-protein coupled receptor signaling pathway (GO:0007186)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)	catalytic activity (GO:0003824)|G-protein coupled receptor activity (GO:0004930)|glutathione binding (GO:0043295)|low-density lipoprotein particle receptor binding (GO:0050750)|SH3 domain binding (GO:0017124)|zinc ion binding (GO:0008270)			breast(1)|large_intestine(5)|liver(1)|lung(4)|prostate(1)	12				Epithelial(149;0.00562)|Lung(261;0.0468)|LUSC - Lung squamous cell carcinoma(261;0.0495)|all cancers(144;0.0569)		TCATACCTGCCCAGCCAGTGT	0.502																																						ENST00000443314.1																			0				breast(1)|large_intestine(5)|liver(1)|lung(4)|prostate(1)	12						c.(193-195)tgG>tgA		LanC lantibiotic synthetase component C-like 1 (bacterial)							219	207	211					2																	211336687		2203	4300	6503	SO:0001587	stop_gained	10314					cytoplasm|integral to plasma membrane|microtubule cytoskeleton|nucleus	catalytic activity|G-protein coupled receptor activity|glutathione binding|low-density lipoprotein particle receptor binding|SH3 domain binding|zinc ion binding	g.chr2:211336687C>T	Y11395	CCDS2392.1	2q33-q35	2008-05-23	2001-12-04		ENSG00000115365	ENSG00000115365			6508	protein-coding gene	gene with protein product		604155	"LanC (bacterial lantibiotic synthetase component C)-like 1"	GPR69A		9512664	Standard	NM_001136574		Approved	p40	uc010zjh.2	O43813	OTTHUMG00000132991	ENST00000443314.1:c.195G>A	2.37:g.211336687C>T	ENSP00000388713:p.Trp65*					LANCL1_ENST00000450366.2_Nonsense_Mutation_p.W65*|LANCL1_ENST00000441020.3_Nonsense_Mutation_p.W65*|LANCL1_ENST00000431941.2_Nonsense_Mutation_p.W65*|LANCL1_ENST00000233714.4_Nonsense_Mutation_p.W65*	p.W65*			O43813	LANC1_HUMAN		Epithelial(149;0.00562)|Lung(261;0.0468)|LUSC - Lung squamous cell carcinoma(261;0.0495)|all cancers(144;0.0569)	2	537	-			65						Nonsense_Mutation	SNP	ENST00000443314.1	37	c.195G>A	CCDS2392.1	.	.	.	.	.	.	.	.	.	.	C	34	5.291921	0.95546	.	.	ENSG00000115365	ENST00000443314;ENST00000441020;ENST00000450366;ENST00000233714;ENST00000431941;ENST00000448951	.	.	.	5.47	3.63	0.41609	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.30854	T	0.27	.	9.2187	0.37364	0.1424:0.7833:0.0:0.0743	.	.	.	.	X	65	.	ENSP00000233714:W65X	W	-	3	0	LANCL1	211044932	1.000000	0.71417	0.966000	0.40874	0.994000	0.84299	5.684000	0.68197	1.273000	0.44346	0.650000	0.86243	TGG		0.502	LANCL1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336817.1	NM_006055		108	395	0	0	0	1	0	108	395					T	211336687	C	T	211336687	4	4	237	1	0	0	0	0	0	1	0	0	8620	624	22	3	1036	3	LANCL1	2	211336687	Nonsense_Mutation	SNP	C	TCGA-HC-8265-01A-11D-2260-08	19473969	211336687	31862686	7	11011											
TNS1	7145	broad.mit.edu	37	chr2	218712884	218712884	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctgctggcgtggaggtgggcGaggctgctgctgctgctgct	2	10	19	10	2	0	0	0	0	0	0	0	2	0	1	0	5	6	7	0	5	0	0			TCGA-HC-8265-01A-11D-2260-08	TCGA-HC-8265-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d96380bd-80d2-4c64-ae3f-6f886936204e	ece936c5-0f53-4010-9e99-8091c679d15b	g.chr2:218712884G>A	ENST00000171887.4	-	17	2433	c.1981C>T	c.(1981-1983)Cgc>Tgc	p.R661C	TNS1_ENST00000430930.1_Missense_Mutation_p.R661C|TNS1_ENST00000480665.1_5'Flank|TNS1_ENST00000419504.1_Missense_Mutation_p.R661C	NM_022648.4	NP_072174.3	Q9HBL0	TENS1_HUMAN	tensin 1	661	Gln-rich.				cell-substrate junction assembly (GO:0007044)|fibroblast migration (GO:0010761)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)	poly(A) RNA binding (GO:0044822)			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(23)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	79		Renal(207;0.0483)|Lung NSC(271;0.213)		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)		GGAGGTGGGCGAGgctgctgc	0.667																																						ENST00000171887.4																			0				breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(23)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	79						c.(1981-1983)Cgc>Tgc		tensin 1							14	16	15					2																	218712884		2202	4299	6501	SO:0001583	missense	7145					cytoplasm|cytoskeleton|focal adhesion	actin binding	g.chr2:218712884G>A	AB209238	CCDS2407.1	2q35-q36	2014-06-13	2005-05-13	2005-05-13	ENSG00000079308	ENSG00000079308		"Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs", "SH2 domain containing"	11973	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 155"	600076	"tensin", "matrix-remodelling associated 6"	TNS, MXRA6			Standard	NM_022648		Approved	DKFZp586K0617, PPP1R155	uc002vgt.2	Q9HBL0	OTTHUMG00000133056	ENST00000171887.4:c.1981C>T	2.37:g.218712884G>A	ENSP00000171887:p.Arg661Cys					TNS1_ENST00000419504.1_Missense_Mutation_p.R661C|TNS1_ENST00000430930.1_Missense_Mutation_p.R661C	p.R661C	NM_022648.4	NP_072174.3	Q9HBL0	TENS1_HUMAN		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)	17	2433	-		Renal(207;0.0483)|Lung NSC(271;0.213)	661			Gln-rich.		Q4ZG71|Q6IPI5	Missense_Mutation	SNP	ENST00000171887.4	37	c.1981C>T	CCDS2407.1	.	.	.	.	.	.	.	.	.	.	G	7.249	0.602922	0.13939	.	.	ENSG00000079308	ENST00000171887;ENST00000419504;ENST00000430930	D;D;D	0.98617	-5.03;-5.03;-5.03	4.42	2.56	0.30785	.	1.818830	0.02200	N	0.062156	D	0.95689	0.8598	N	0.16478	0.41	0.20489	N	0.999899	B;B;B;B;B	0.11235	0.004;0.002;0.002;0.001;0.0	B;B;B;B;B	0.04013	0.001;0.0;0.0;0.001;0.0	D	0.90663	0.4592	10	0.37606	T	0.19	.	6.7646	0.23560	0.1588:0.0:0.7005:0.1408	.	661;715;661;661;661	B2RU35;A1L0S7;Q9HBL0;E9PGF5;E9PF55	.;.;TENS1_HUMAN;.;.	C	661	ENSP00000171887:R661C;ENSP00000408724:R661C;ENSP00000406016:R661C	ENSP00000171887:R661C	R	-	1	0	TNS1	218421129	1.000000	0.71417	0.687000	0.30102	0.756000	0.42949	0.820000	0.27323	1.083000	0.41159	-0.291000	0.09656	CGC		0.667	TNS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256672.2	NM_022648		3	6	0	0	0	1	0	3	6					A	218712884	G	A	218712884	3	1	237	1	0	0	0	0	1	0	0	0	16340	1058	37	2	3294	2	TNS1	2	218712884	Missense_Mutation	SNP	G	TCGA-HC-8265-01A-11D-2260-08	7376197	218712884	24486489	8	11012											
UGT1A7	54577	broad.mit.edu	37	chr2	234591302	234591302	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aattctccaaacccctgtcaCggcatatgatctctacagcc	11	10	5	15	1	3	1	1	1	2	0	5	1	3	1	4	1	3	1	4	1	4	3	rs371311391		TCGA-HC-8265-01A-11D-2260-08	TCGA-HC-8265-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d96380bd-80d2-4c64-ae3f-6f886936204e	ece936c5-0f53-4010-9e99-8091c679d15b	g.chr2:234591302C>T	ENST00000373426.3	+	1	719	c.719C>T	c.(718-720)aCg>aTg	p.T240M	UGT1A1_ENST00000373450.4_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A1_ENST00000609637.1_Intron	NM_019077.2	NP_061950.2	Q9HAW7	UD17_HUMAN	UDP glucuronosyltransferase 1 family, polypeptide A7	240					cellular glucuronidation (GO:0052695)|coumarin metabolic process (GO:0009804)|drug metabolic process (GO:0017144)|excretion (GO:0007588)|flavone metabolic process (GO:0051552)|flavonoid glucuronidation (GO:0052696)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cellular glucuronidation (GO:2001030)|negative regulation of fatty acid metabolic process (GO:0045922)|retinoic acid metabolic process (GO:0042573)|xenobiotic glucuronidation (GO:0052697)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	drug binding (GO:0008144)|enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|glucuronosyltransferase activity (GO:0015020)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase C binding (GO:0005080)|retinoic acid binding (GO:0001972)			NS(1)|endometrium(6)|kidney(5)|large_intestine(5)|liver(1)|lung(12)|ovary(1)|prostate(1)|skin(1)	33		Breast(86;0.000765)|all_lung(227;0.00267)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0457)|Lung SC(224;0.128)		Epithelial(121;8.93e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000412)|Lung(119;0.00333)|LUSC - Lung squamous cell carcinoma(224;0.00746)	Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)	ACCCCTGTCACGGCATATGAT	0.408																																						ENST00000373426.3																			0				NS(1)|endometrium(6)|kidney(5)|large_intestine(5)|liver(1)|lung(12)|ovary(1)|prostate(1)|skin(1)	33						c.(718-720)aCg>aTg				C	,,MET/THR,	0,4406		0,0,2203	200	211	208		,,719,	1.1	0	2		208	1,8599	1.2+/-3.3	0,1,4299	no	intron,intron,missense,intron	UGT1A10,UGT1A8,UGT1A7,UGT1A9	NM_019075.2,NM_019076.4,NM_019077.2,NM_021027.2	,,81,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,,,	,,240/531,	234591302	1,13005	2203	4300	6503	SO:0001583	missense	0							g.chr2:234591302C>T	U39570	CCDS2506.1	2q37	2010-03-05	2005-07-20		ENSG00000244122	ENSG00000244122		"UDP glucuronosyltransferases"	12539	other	complex locus constituent		606432	"UDP glycosyltransferase 1 family, polypeptide A6"			9295054, 11434514	Standard	NM_019077		Approved	UGT1G		Q9HAW7	OTTHUMG00000059004	ENST00000373426.3:c.719C>T	2.37:g.234591302C>T	ENSP00000362525:p.Thr240Met					UGT1A9_ENST00000354728.4_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A8_ENST00000373450.4_Intron	p.T240M	NM_019077.2	NP_061950.2				Epithelial(121;8.93e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000412)|Lung(119;0.00333)|LUSC - Lung squamous cell carcinoma(224;0.00746)	1	719	+		Breast(86;0.000765)|all_lung(227;0.00267)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0457)|Lung SC(224;0.128)						B8K293|O00473	Missense_Mutation	SNP	ENST00000373426.3	37	c.719C>T	CCDS2506.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.81|15.81	2.944214|2.944214	0.53079|0.53079	0.0|0.0	1.16E-4|1.16E-4	ENSG00000244122|ENSG00000244122	ENST00000485022|ENST00000373426	.|T	.|0.07216	.|3.21	4.16|4.16	1.09|1.09	0.20402|0.20402	.|.	.|.	.|.	.|.	.|.	T|T	0.35799|0.35799	0.0944|0.0944	H|H	0.95437|0.95437	3.67|3.67	0.09310|0.09310	N|N	0.999997|0.999997	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.70487	.|0.969;0.969	T|T	0.11518|0.11518	-1.0584|-1.0584	5|9	.|0.87932	.|D	.|0	.|.	9.2286|9.2286	0.37423|0.37423	0.0:0.6491:0.2727:0.0782|0.0:0.6491:0.2727:0.0782	.|.	.|240;240	.|Q5DSZ7;Q9HAW7	.|.;UD17_HUMAN	W|M	97|240	.|ENSP00000362525:T240M	.|ENSP00000362525:T240M	R|T	+|+	1|2	2|0	UGT1A7|UGT1A7	234256041|234256041	0.072000|0.072000	0.21174|0.21174	0.045000|0.045000	0.18777|0.18777	0.128000|0.128000	0.20619|0.20619	1.531000|1.531000	0.36018|0.36018	0.393000|0.393000	0.25203|0.25203	0.485000|0.485000	0.47835|0.47835	CGG|ACG		0.408	UGT1A7-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000130614.1	NM_019077		28	514	0	0	0	1	0	28	514					T	234591302	C	T	234591302	3	4	237	1	0	0	0	0	1	0	0	0	16947	536	19	1	721	1	UGT1A7	2	234591302	Missense_Mutation	SNP	C	TCGA-HC-8265-01A-11D-2260-08	15878418	234591302	8608071	9	11013											
AGXT	189	broad.mit.edu	37	chr2	241814527	241814527	+	Splice_Site	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cctgcttctttctccccagaAagaagatgtactcccgcaag	10	10	7	14	1	2	3	0	0	2	3	4	3	3	3	4	0	2	3	4	0	4	3			TCGA-HC-8265-01A-11D-2260-08	TCGA-HC-8265-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d96380bd-80d2-4c64-ae3f-6f886936204e	ece936c5-0f53-4010-9e99-8091c679d15b	g.chr2:241814527A>C	ENST00000307503.3	+	7	1069	c.682A>C	c.(682-684)Aag>Cag	p.K228Q		NM_000030.2	NP_000021.1	P21549	SPYA_HUMAN	alanine-glyoxylate aminotransferase	228					cellular nitrogen compound metabolic process (GO:0034641)|glycine biosynthetic process, by transamination of glyoxylate (GO:0019265)|glyoxylate catabolic process (GO:0009436)|glyoxylate metabolic process (GO:0046487)|L-alanine catabolic process (GO:0042853)|L-cysteine catabolic process (GO:0019448)|oxalic acid secretion (GO:0046724)|pyruvate biosynthetic process (GO:0042866)|response to cAMP (GO:0051591)|response to glucocorticoid (GO:0051384)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	alanine-glyoxylate transaminase activity (GO:0008453)|amino acid binding (GO:0016597)|protein homodimerization activity (GO:0042803)|pyridoxal phosphate binding (GO:0030170)|receptor binding (GO:0005102)|serine-pyruvate transaminase activity (GO:0004760)|transaminase activity (GO:0008483)			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)	18		all_epithelial(40;1.61e-15)|Breast(86;2.35e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;8.14e-32)|all cancers(36;4.77e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;4.88e-06)|Lung(119;0.000452)|LUSC - Lung squamous cell carcinoma(224;0.00415)|Colorectal(34;0.021)|COAD - Colon adenocarcinoma(134;0.15)	Glycine(DB00145)|L-Alanine(DB00160)|L-Serine(DB00133)	TCTCCCCAGAAAGAAGATGTA	0.587																																						ENST00000307503.3																			0				central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)	18						c.e7-1		alanine-glyoxylate aminotransferase	Glycine(DB00145)|L-Alanine(DB00160)|L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)						75	70	71					2																	241814527		2203	4300	6503	SO:0001630	splice_region_variant	189				glyoxylate metabolic process|protein targeting to peroxisome	mitochondrial matrix|peroxisomal matrix	alanine-glyoxylate transaminase activity|protein homodimerization activity|pyridoxal phosphate binding|serine-pyruvate transaminase activity	g.chr2:241814527A>C	D13368	CCDS2543.1	2q37.3	2008-02-05	2007-04-13		ENSG00000172482	ENSG00000172482	2.6.1.44, 2.6.1.51		341	protein-coding gene	gene with protein product	"oxalosis I", "primary hyperoxaluria type 1", "L-alanine: glyoxylate aminotransferase 1", "serine:pyruvate aminotransferase", "glycolicaciduria"	604285		SPAT		2039493, 2045108	Standard	NM_000030		Approved	AGXT1, PH1, AGT, SPT, AGT1	uc002waa.4	P21549	OTTHUMG00000133354	ENST00000307503.3:c.681-1A>C	2.37:g.241814527A>C							p.K228_splice	NM_000030.2	NP_000021.1	P21549	SPYA_HUMAN		Epithelial(32;8.14e-32)|all cancers(36;4.77e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;4.88e-06)|Lung(119;0.000452)|LUSC - Lung squamous cell carcinoma(224;0.00415)|Colorectal(34;0.021)|COAD - Colon adenocarcinoma(134;0.15)	7	1069	+		all_epithelial(40;1.61e-15)|Breast(86;2.35e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)	228					Q53QU6	Splice_Site	SNP	ENST00000307503.3	37	c.680_splice	CCDS2543.1	.	.	.	.	.	.	.	.	.	.	a	7.916	0.737472	0.15574	.	.	ENSG00000172482	ENST00000307503	D	0.93426	-3.22	3.79	1.26	0.21427	Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);Aminotransferase, class V/Cysteine desulfurase (1);	0.697693	0.14663	N	0.305811	D	0.86167	0.5868	L	0.31371	0.925	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.74206	-0.3740	10	0.42905	T	0.14	-0.2911	5.4135	0.16360	0.6491:0.1722:0.0:0.1787	.	228	P21549	SPYA_HUMAN	Q	228	ENSP00000302620:K228Q	ENSP00000302620:K228Q	K	+	1	0	AGXT	241463200	0.001000	0.12720	0.002000	0.10522	0.027000	0.11550	0.700000	0.25601	-0.032000	0.13758	0.520000	0.50463	AAG		0.587	AGXT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257186.1	NM_000030	Missense_Mutation	16	37	0	0	0	1	0	16	37					C	241814527	A	C	241814527	5	2	237	1	0	0	0	0	0	0	1	0	404	28	1	5	708	5	AGXT	2	241814527	Splice_Site	SNP	A	TCGA-HC-8265-01A-11D-2260-08	7223225	241814527	1384846	10	11014											
TBC1D5	9779	broad.mit.edu	37	chr3	17413717	17413717	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gtggtctagcaaagggaatgGgagtcatcagtgtttctttc	9	13	13	6	0	4	0	2	0	2	0	5	2	4	2	0	3	1	2	0	3	3	3			TCGA-HC-8265-01A-11D-2260-08	TCGA-HC-8265-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d96380bd-80d2-4c64-ae3f-6f886936204e	ece936c5-0f53-4010-9e99-8091c679d15b	g.chr3:17413717G>T	ENST00000253692.7	-	13	2509	c.845C>A	c.(844-846)cCc>cAc	p.P282H	TBC1D5_ENST00000429924.2_Missense_Mutation_p.P234H|TBC1D5_ENST00000414318.2_Intron|TBC1D5_ENST00000446818.2_Missense_Mutation_p.P282H|TBC1D5_ENST00000429383.4_Missense_Mutation_p.P282H	NM_014744.2	NP_055559.1	Q92609	TBCD5_HUMAN	TBC1 domain family, member 5	282	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.					retromer complex (GO:0030904)	Rab GTPase activator activity (GO:0005097)			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	36						AAAGGGAATGGGAGTCATCAG	0.328																																						ENST00000253692.7																			0				NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	36						c.(844-846)cCc>cAc		TBC1 domain family, member 5							158	149	152					3																	17413717		2203	4300	6503	SO:0001583	missense	9779					intracellular	protein binding|Rab GTPase activator activity	g.chr3:17413717G>T	D86965	CCDS33714.1, CCDS46770.1	3p24.3	2013-07-09			ENSG00000131374	ENSG00000131374			19166	protein-coding gene	gene with protein product		615740				19531583	Standard	NM_014744		Approved	KIAA0210	uc003cbe.3	Q92609	OTTHUMG00000155488	ENST00000253692.7:c.845C>A	3.37:g.17413717G>T	ENSP00000253692:p.Pro282His					TBC1D5_ENST00000446818.2_Missense_Mutation_p.P282H|TBC1D5_ENST00000414318.2_Intron|TBC1D5_ENST00000429383.4_Missense_Mutation_p.P282H|TBC1D5_ENST00000429924.2_Missense_Mutation_p.P234H	p.P282H	NM_014744.2	NP_055559.1	Q92609	TBCD5_HUMAN			13	2509	-			282			Rab-GAP TBC.		A6NP25|C9JP52	Missense_Mutation	SNP	ENST00000253692.7	37	c.845C>A	CCDS33714.1	.	.	.	.	.	.	.	.	.	.	G	16.52	3.147081	0.57151	.	.	ENSG00000131374	ENST00000253692;ENST00000429383;ENST00000446818;ENST00000429924	T;T;T;T	0.46451	1.46;1.46;1.45;0.87	5.79	5.79	0.91817	Rab-GAP/TBC domain (4);	0.092099	0.85682	D	0.000000	T	0.54806	0.1881	L	0.39514	1.22	0.47374	D	0.9994	P;P;D	0.55385	0.944;0.951;0.971	P;P;P	0.59115	0.852;0.852;0.852	T	0.50591	-0.8810	10	0.51188	T	0.08	-15.0953	20.0332	0.97547	0.0:0.0:1.0:0.0	.	234;282;282	C9J3F6;C9JP52;Q92609	.;.;TBCD5_HUMAN	H	282;282;282;234	ENSP00000253692:P282H;ENSP00000398127:P282H;ENSP00000402935:P282H;ENSP00000411925:P234H	ENSP00000253692:P282H	P	-	2	0	TBC1D5	17388721	1.000000	0.71417	0.985000	0.45067	0.957000	0.61999	4.794000	0.62482	2.749000	0.94314	0.491000	0.48974	CCC		0.328	TBC1D5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340301.3	NM_014744		3	70	1	0	1	1	1	3	70					T	17413717	G	T	17413717	3	4	237	1	0	0	0	0	1	0	0	0	15620	1232	43	5	1652	5	TBC1D5	3	17413717	Missense_Mutation	SNP	G	TCGA-HC-8265-01A-11D-2260-08		17413717	180608713	11	11015											
TOP2B	7155	broad.mit.edu	37	chr3	25654130	25654130	+	Frame_Shift_Del	DEL	C	C	-																															gtttcttcaccttaggtttgCcaactttacctttaattgct																										TCGA-HC-8265-01A-11D-2260-08	TCGA-HC-8265-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d96380bd-80d2-4c64-ae3f-6f886936204e	ece936c5-0f53-4010-9e99-8091c679d15b	g.chr3:25654130delC	ENST00000264331.4	-	28	3661	c.3662delG	c.(3661-3663)ggcfs	p.G1221fs	TOP2B_ENST00000540199.1_Frame_Shift_Del_p.G73fs|TOP2B_ENST00000475717.1_5'UTR|TOP2B_ENST00000435706.2_Frame_Shift_Del_p.G1216fs|TOP2B_ENST00000542520.1_Frame_Shift_Del_p.G73fs	NM_001068.2	NP_001059.2	Q02880	TOP2B_HUMAN	topoisomerase (DNA) II beta 180kDa	1221					ATP catabolic process (GO:0006200)|axonogenesis (GO:0007409)|DNA topological change (GO:0006265)|DNA unwinding involved in DNA replication (GO:0006268)|forebrain development (GO:0030900)|mitotic DNA integrity checkpoint (GO:0044774)|mitotic recombination (GO:0006312)|neuron migration (GO:0001764)|resolution of meiotic recombination intermediates (GO:0000712)|sister chromatid segregation (GO:0000819)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|DNA topoisomerase complex (ATP-hydrolyzing) (GO:0009330)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding, bending (GO:0008301)|DNA topoisomerase type II (ATP-hydrolyzing) activity (GO:0003918)|enzyme binding (GO:0019899)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)|protein heterodimerization activity (GO:0046982)|protein kinase C binding (GO:0005080)	p.G1216D(1)		breast(2)|endometrium(5)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|skin(2)|stomach(1)	36					Dactinomycin(DB00970)|Daunorubicin(DB00694)|Dexrazoxane(DB00380)|Etoposide(DB00773)	CTTAGGTTTGCCAACTTTACC	0.408																																						ENST00000435706.2																			1	Substitution - Missense(1)	p.G1216D(1)	skin(1)	breast(2)|endometrium(5)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|skin(2)|stomach(1)	36						c.(3646-3648)gcfs		topoisomerase (DNA) II beta 180kDa							173	171	172					3																	25654130		1864	4091	5955	SO:0001589	frameshift_variant	7155				DNA topological change|DNA-dependent DNA replication|mitotic cell cycle G2/M transition decatenation checkpoint|mitotic recombination|resolution of meiotic recombination intermediates|sister chromatid segregation	cytosol|DNA topoisomerase complex (ATP-hydrolyzing)|nucleolus|nucleoplasm|synaptonemal complex|WINAC complex	ATP binding|chromatin binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA-dependent ATPase activity|histone deacetylase binding|protein C-terminus binding|protein heterodimerization activity|protein kinase C binding|sequence-specific DNA binding transcription factor activity	g.chr3:25654130delC	X68060	CCDS46776.1	3p24.2	2012-08-30	2002-08-29		ENSG00000077097	ENSG00000077097	5.99.1.3		11990	protein-coding gene	gene with protein product		126431	"topoisomerase (DNA) II beta (180kD)"			1309226, 1333583	Standard	NM_001068		Approved		uc003cdj.3	Q02880	OTTHUMG00000155596	ENST00000264331.4:c.3662delG	3.37:g.25654130delC	ENSP00000264331:p.Gly1221fs					TOP2B_ENST00000475717.1_5'UTR|TOP2B_ENST00000264331.4_Frame_Shift_Del_p.G1221fs|TOP2B_ENST00000542520.1_Frame_Shift_Del_p.G73fs|TOP2B_ENST00000540199.1_Frame_Shift_Del_p.G73fs	p.G1216fs			Q02880	TOP2B_HUMAN			28	3848	-			1221					Q13600|Q9UMG8|Q9UQP8	Frame_Shift_Del	DEL	ENST00000264331.4	37	c.3647delG																																																																																					0.408	TOP2B-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding				37	111						37	111	---	---	---	---	-	25654130	C	-	25654130	7	5	237	1	0	1	0	1	0	0	0	0	16363	739	26	0	1254	0	TOP2B	3	25654130	Frame_Shift_Del	DEL	C	TCGA-HC-8265-01A-11D-2260-08	8240413	25654130	172368300	12	11016											
IL12A	3592	broad.mit.edu	37	chr3	159710861	159710861	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attgatcatgaagatatcacAaaagataaaaccagcacagt	20	8	6	7	0	2	4	2	2	0	2	2	4	2	4	1	0	2	1	1	0	6	3			TCGA-HC-8265-01A-11D-2260-08	TCGA-HC-8265-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d96380bd-80d2-4c64-ae3f-6f886936204e	ece936c5-0f53-4010-9e99-8091c679d15b	g.chr3:159710861A>G	ENST00000305579.2	+	3	634	c.327A>G	c.(325-327)acA>acG	p.T109T	IL12A-AS1_ENST00000497452.1_RNA|IL12A_ENST00000466512.1_Silent_p.T109T|IL12A_ENST00000480787.1_Intron	NM_000882.3	NP_000873.2	P29459	IL12A_HUMAN	interleukin 12A	75					cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|defense response to Gram-positive bacterium (GO:0050830)|defense response to protozoan (GO:0042832)|extrinsic apoptotic signaling pathway (GO:0097191)|immune response (GO:0006955)|negative regulation of interleukin-17 production (GO:0032700)|negative regulation of smooth muscle cell proliferation (GO:0048662)|positive regulation of cell adhesion (GO:0045785)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of lymphocyte proliferation (GO:0050671)|positive regulation of mononuclear cell proliferation (GO:0032946)|positive regulation of natural killer cell activation (GO:0032816)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target (GO:0002860)|positive regulation of NK T cell activation (GO:0051135)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|positive regulation of T cell differentiation (GO:0045582)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of tyrosine phosphorylation of Stat4 protein (GO:0042520)|response to lipopolysaccharide (GO:0032496)|response to UV-B (GO:0010224)|response to virus (GO:0009615)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|interleukin-12 complex (GO:0043514)	interleukin-12 beta subunit binding (GO:0042163)|interleukin-12 receptor binding (GO:0005143)|interleukin-27 binding (GO:0045513)|protein heterodimerization activity (GO:0046982)			endometrium(3)|kidney(1)|large_intestine(1)|lung(4)	9			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			AAGATATCACAAAAGATAAAA	0.378																																						ENST00000305579.2																			0				endometrium(3)|kidney(1)|large_intestine(1)|lung(4)	9						c.(325-327)acA>acG		interleukin 12A (natural killer cell stimulatory factor 1, cytotoxic lymphocyte maturation factor 1, p35)							98	108	105					3																	159710861		2203	4300	6503	SO:0001819	synonymous_variant	3592				cell cycle arrest|cell migration|defense response to Gram-positive bacterium|immune response|negative regulation of interleukin-17 production|negative regulation of smooth muscle cell proliferation|positive regulation of cell adhesion|positive regulation of interferon-gamma production|positive regulation of natural killer cell activation|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target|positive regulation of NK T cell activation|positive regulation of smooth muscle cell apoptosis|positive regulation of T cell mediated cytotoxicity|positive regulation of tyrosine phosphorylation of Stat4 protein|response to lipopolysaccharide|response to UV-B|response to virus	interleukin-12 complex	cytokine activity|growth factor activity|interleukin-12 receptor binding|interleukin-27 binding|protein heterodimerization activity	g.chr3:159710861A>G	M65271	CCDS3187.1	3q25.33	2014-04-04	2014-04-04		ENSG00000168811	ENSG00000168811		"Interleukins and interleukin receptors"	5969	protein-coding gene	gene with protein product	"natural killer cell stimulatory factor 1, 35 kD subunit", "cytotoxic lymphocyte maturation factor 1, p35", "interleukin 12, p35", "IL-12, subunit p35", "NF cell stimulatory factor chain 1", "interleukin-12 alpha chain", "IL35 subunit"	161560	"interleukin 12A (natural killer cell stimulatory factor 1, cytotoxic lymphocyte maturation factor 1, p35)"	NKSF1		1673147	Standard	NM_000882		Approved	CLMF, IL-12A, p35, NFSK	uc003fcx.3	P29459	OTTHUMG00000158942	ENST00000305579.2:c.327A>G	3.37:g.159710861A>G						CTD-2049J23.2_ENST00000497452.1_RNA|IL12A_ENST00000480787.1_Intron|IL12A_ENST00000466512.1_Silent_p.T109T	p.T109T	NM_000882.3	NP_000873.2	P29459	IL12A_HUMAN	Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)		3	634	+			75					Q96QZ1	Silent	SNP	ENST00000305579.2	37	c.327A>G	CCDS3187.1																																																																																				0.378	IL12A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352602.2	NM_000882		4	74	0	0	0	1	0	4	74					G	159710861	A	G	159710861	2	3	237	1	0	0	0	0	0	0	0	1	7624	117	5	4		4	IL12A	3	159710861	Silent	SNP	A	TCGA-HC-8265-01A-11D-2260-08	134056731	159710861	38311569	13	11017											
OPA1	4976	broad.mit.edu	37	chr3	193332788	193332788	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctcttaaaacttcgctatctCatactaggatcggctgttgg	9	14	8	10	2	2	0	1	0	2	0	5	1	2	1	0	3	2	3	0	3	5	6			TCGA-HC-8265-01A-11D-2260-08	TCGA-HC-8265-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d96380bd-80d2-4c64-ae3f-6f886936204e	ece936c5-0f53-4010-9e99-8091c679d15b	g.chr3:193332788C>T	ENST00000392438.3	+	2	543	c.309C>T	c.(307-309)ctC>ctT	p.L103L	OPA1_ENST00000361715.2_Silent_p.L103L|OPA1_ENST00000361510.2_Silent_p.L103L|OPA1_ENST00000361150.2_Silent_p.L103L|OPA1_ENST00000487986.1_3'UTR|OPA1_ENST00000361908.3_Silent_p.L103L|OPA1_ENST00000361828.2_Silent_p.L103L	NM_015560.2	NP_056375.2	O60313	OPA1_HUMAN	optic atrophy 1 (autosomal dominant)	103					apoptotic process (GO:0006915)|axon transport of mitochondrion (GO:0019896)|cellular senescence (GO:0090398)|GTP catabolic process (GO:0006184)|inner mitochondrial membrane organization (GO:0007007)|mitochondrial fission (GO:0000266)|mitochondrial fusion (GO:0008053)|mitochondrion organization (GO:0007005)|negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902236)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|neural tube closure (GO:0001843)|visual perception (GO:0007601)	dendrite (GO:0030425)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial crista (GO:0030061)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|magnesium ion binding (GO:0000287)			breast(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(4)|lung(15)|upper_aerodigestive_tract(1)|urinary_tract(2)	31	all_cancers(143;9.56e-09)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;9.19e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000162)		TTCGCTATCTCATACTAGGAT	0.403																																						ENST00000361510.2																			0				breast(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(4)|lung(15)|upper_aerodigestive_tract(1)|urinary_tract(2)	31						c.(307-309)ctC>ctT		optic atrophy 1 (autosomal dominant)							53	55	54					3																	193332788		2203	4300	6503	SO:0001819	synonymous_variant	4976				apoptosis|axon transport of mitochondrion|inner mitochondrial membrane organization|mitochondrial fission|mitochondrial fusion|positive regulation of anti-apoptosis|response to stimulus|visual perception	dendrite|integral to membrane|mitochondrial crista|mitochondrial intermembrane space|mitochondrial outer membrane	GTP binding|GTPase activity|magnesium ion binding|protein binding	g.chr3:193332788C>T	AB011139	CCDS33917.1, CCDS43186.1	3q29	2014-09-17			ENSG00000198836	ENSG00000198836			8140	protein-coding gene	gene with protein product	"mitochondrial dynamin-like GTPase", "dynamin-like guanosine triphosphatase", "Dynamin-like 120 kDa protein, mitochondrial"	605290				9490303	Standard	NM_015560		Approved	NTG, KIAA0567, FLJ12460, NPG, MGM1	uc003ftg.3	O60313	OTTHUMG00000149897	ENST00000392438.3:c.309C>T	3.37:g.193332788C>T						OPA1_ENST00000487986.1_3'UTR|OPA1_ENST00000361828.2_Silent_p.L103L|OPA1_ENST00000392438.3_Silent_p.L103L|OPA1_ENST00000361908.3_Silent_p.L103L|OPA1_ENST00000361150.2_Silent_p.L103L|OPA1_ENST00000361715.2_Silent_p.L103L	p.L103L	NM_130837.2	NP_570850.2	O60313	OPA1_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;9.19e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000162)	2	543	+	all_cancers(143;9.56e-09)|Ovarian(172;0.0386)		103					D3DNW4	Silent	SNP	ENST00000392438.3	37	c.309C>T	CCDS43186.1	.	.	.	.	.	.	.	.	.	.	C	4.487	0.090316	0.08632	.	.	ENSG00000198836	ENST00000434811	.	.	.	5.97	2.24	0.28232	.	.	.	.	.	T	0.58793	0.2147	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.50890	-0.8774	4	.	.	.	-1.4062	9.7693	0.40580	0.0:0.5964:0.0:0.4036	.	.	.	.	L	3	.	.	S	+	2	0	OPA1	194815482	0.028000	0.19301	0.886000	0.34754	0.559000	0.35586	0.229000	0.17833	0.133000	0.18654	-0.136000	0.14681	TCA		0.403	OPA1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000313812.2	NM_130837		5	60	0	0	0	1	0	5	60					T	193332788	C	T	193332788	2	4	237	1	0	0	0	0	0	0	0	1	10871	813	29	3		3	OPA1	3	193332788	Silent	SNP	C	TCGA-HC-8265-01A-11D-2260-08	33621927	193332788	4689642	14	11018											
PPARGC1A	10891	broad.mit.edu	37	chr4	23815648	23815648	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgttcattactgaaatcactGtccctcagttcaccggtctt	8	15	6	12	1	5	1	4	1	1	0	6	1	6	1	2	1	1	2	2	1	2	4			TCGA-HC-8265-01A-11D-2260-08	TCGA-HC-8265-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d96380bd-80d2-4c64-ae3f-6f886936204e	ece936c5-0f53-4010-9e99-8091c679d15b	g.chr4:23815648G>A	ENST00000264867.2	-	8	1577	c.1458C>T	c.(1456-1458)gaC>gaT	p.D486D	PPARGC1A_ENST00000509702.1_5'UTR	NM_013261.3	NP_037393.1	Q9UBK2	PRGC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator 1 alpha	486	Mediates interaction with RNF34. {ECO:0000269|PubMed:22064484}.				androgen metabolic process (GO:0008209)|androgen receptor signaling pathway (GO:0030521)|brown fat cell differentiation (GO:0050873)|cellular glucose homeostasis (GO:0001678)|cellular respiration (GO:0045333)|cellular response to fatty acid (GO:0071398)|cellular response to hypoxia (GO:0071456)|cellular response to nitrite (GO:0071250)|cellular response to oxidative stress (GO:0034599)|cellular response to thyroid hormone stimulus (GO:0097067)|cellular response to tumor necrosis factor (GO:0071356)|circadian regulation of gene expression (GO:0032922)|digestion (GO:0007586)|fatty acid oxidation (GO:0019395)|flavone metabolic process (GO:0051552)|galactose metabolic process (GO:0006012)|gluconeogenesis (GO:0006094)|mitochondrion organization (GO:0007005)|mRNA processing (GO:0006397)|negative regulation of glycolytic process (GO:0045820)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of neuron death (GO:1901215)|negative regulation of receptor activity (GO:2000272)|positive regulation of ATP biosynthetic process (GO:2001171)|positive regulation of cellular respiration (GO:1901857)|positive regulation of energy homeostasis (GO:2000507)|positive regulation of fatty acid oxidation (GO:0046321)|positive regulation of gluconeogenesis (GO:0045722)|positive regulation of histone acetylation (GO:0035066)|positive regulation of mitochondrial DNA metabolic process (GO:1901860)|positive regulation of mitochondrion organization (GO:0010822)|positive regulation of muscle tissue development (GO:1901863)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein stabilization (GO:0050821)|regulation of circadian rhythm (GO:0042752)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of transcription, DNA-templated (GO:0006355)|respiratory electron transport chain (GO:0022904)|response to cold (GO:0009409)|response to epinephrine (GO:0071871)|response to leucine (GO:0043201)|response to muscle activity (GO:0014850)|response to norepinephrine (GO:0071873)|response to starvation (GO:0042594)|response to statin (GO:0036273)|RNA splicing (GO:0008380)|temperature homeostasis (GO:0001659)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytosol (GO:0005829)|DNA-directed RNA polymerase II, core complex (GO:0005665)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin DNA binding (GO:0031490)|DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)|RNA polymerase II transcription cofactor activity (GO:0001104)|sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|liver(1)|lung(24)|ovary(3)|skin(5)	51		Breast(46;0.0503)				TGAAATCACTGTCCCTCAGTT	0.453																																					Esophageal Squamous(29;694 744 13796 34866 44181)	ENST00000264867.2																			0				central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|liver(1)|lung(24)|ovary(3)|skin(5)	51						c.(1456-1458)gaC>gaT		peroxisome proliferator-activated receptor gamma, coactivator 1 alpha							135	125	128					4																	23815648		2203	4300	6503	SO:0001819	synonymous_variant	10891				androgen receptor signaling pathway|brown fat cell differentiation|cellular glucose homeostasis|digestion|fatty acid oxidation|gluconeogenesis|mitochondrion organization|mRNA processing|neuron death|positive regulation of fatty acid oxidation|positive regulation of gluconeogenesis|positive regulation of histone acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|protein complex assembly|protein stabilization|response to muscle activity|response to starvation|RNA splicing|temperature homeostasis|transcription initiation from RNA polymerase II promoter	DNA-directed RNA polymerase II, core complex	androgen receptor binding|DNA binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|RNA binding|RNA polymerase II transcription cofactor activity|transcription factor binding	g.chr4:23815648G>A	AF106698	CCDS3429.1	4p15.1	2013-02-12	2006-10-17	2004-02-04	ENSG00000109819	ENSG00000109819		"RNA binding motif (RRM) containing"	9237	protein-coding gene	gene with protein product		604517	"peroxisome proliferative activated receptor, gamma, coactivator 1", "peroxisome proliferative activated receptor, gamma, coactivator 1, alpha"	PPARGC1		10585775	Standard	NM_013261		Approved	PGC1, PGC1A	uc003gqs.3	Q9UBK2	OTTHUMG00000097747	ENST00000264867.2:c.1458C>T	4.37:g.23815648G>A						PPARGC1A_ENST00000509702.1_5'UTR	p.D486D	NM_013261.3	NP_037393.1	Q9UBK2	PRGC1_HUMAN			8	1577	-		Breast(46;0.0503)	486					B7Z406|G8DM16|I3RTT5|I3RTT6|I3RTT7|I3RTT8|I3RTT9|Q3LIG1|Q4W5M7|Q9UN32	Silent	SNP	ENST00000264867.2	37	c.1458C>T	CCDS3429.1																																																																																				0.453	PPARGC1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214976.1	NM_013261		34	102	0	0	0	1	0	34	102					A	23815648	G	A	23815648	2	1	237	1	0	0	0	0	0	0	0	1	12300	1368	48	3		3	PPARGC1A	4	23815648	Silent	SNP	G	TCGA-HC-8265-01A-11D-2260-08		23815648	167338628	15	11019											
GABRG1	2565	broad.mit.edu	37	chr4	46043172	46043172	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acagaagaagctggcacaatCtttgccctccaaacactgat	14	8	7	12	0	1	3	0	1	1	2	2	3	2	3	2	1	3	2	2	1	4	1			TCGA-HC-8265-01A-11D-2260-08	TCGA-HC-8265-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d96380bd-80d2-4c64-ae3f-6f886936204e	ece936c5-0f53-4010-9e99-8091c679d15b	g.chr4:46043172C>A	ENST00000295452.4	-	9	1398	c.1231G>T	c.(1231-1233)Gat>Tat	p.D411Y		NM_173536.3	NP_775807.2	Q8N1C3	GBRG1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 1	411					gamma-aminobutyric acid signaling pathway (GO:0007214)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)	p.D411N(1)		breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	76				Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	CTGGCACAATCTTTGCCCTCC	0.438																																						ENST00000295452.4																			1	Substitution - Missense(1)	p.D411N(1)	skin(1)	breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	76						c.(1231-1233)Gat>Tat		gamma-aminobutyric acid (GABA) A receptor, gamma 1							118	118	118					4																	46043172		2203	4300	6503	SO:0001583	missense	2565				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity	g.chr4:46043172C>A	BC031087	CCDS3470.1	4p12	2012-06-22			ENSG00000163285	ENSG00000163285		"GABA receptors", "Ligand-gated ion channels / GABA(A) receptors"	4086	protein-coding gene	gene with protein product	"GABA(A) receptor, gamma"	137166				1321425	Standard	NM_173536		Approved		uc003gxb.3	Q8N1C3	OTTHUMG00000128609	ENST00000295452.4:c.1231G>T	4.37:g.46043172C>A	ENSP00000295452:p.Asp411Tyr						p.D411Y	NM_173536.3	NP_775807.2	Q8N1C3	GBRG1_HUMAN		Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23)	9	1398	-			411					Q5H9T8	Missense_Mutation	SNP	ENST00000295452.4	37	c.1231G>T	CCDS3470.1	.	.	.	.	.	.	.	.	.	.	C	26.5	4.739471	0.89573	.	.	ENSG00000163285	ENST00000295452	D	0.84660	-1.88	5.6	5.6	0.85130	Neurotransmitter-gated ion-channel transmembrane domain (1);	0.000000	0.85682	D	0.000000	D	0.89705	0.6792	M	0.62723	1.935	0.80722	D	1	D	0.54397	0.966	P	0.55667	0.781	D	0.90494	0.4469	10	0.87932	D	0	.	18.6146	0.91297	0.0:1.0:0.0:0.0	.	411	Q8N1C3	GBRG1_HUMAN	Y	411	ENSP00000295452:D411Y	ENSP00000295452:D411Y	D	-	1	0	GABRG1	45737929	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.741000	0.84997	2.640000	0.89533	0.585000	0.79938	GAT		0.438	GABRG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250470.1	NM_173536		5	81	1	0	0.000157383	1	0.0001684	5	81					A	46043172	C	A	46043172	3	1	237	1	0	0	0	0	1	0	0	0	6171	913	32	5	170	5	GABRG1	4	46043172	Missense_Mutation	SNP	C	TCGA-HC-8265-01A-11D-2260-08	22227524	46043172	145111104	16	11020											
C4orf31	79625	broad.mit.edu	37	chr4	121958241	121958241	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gagacggtgaagatgttcttGtttcctatgcagattttctg	8	16	11	6	1	2	4	0	1	2	3	3	5	3	4	1	1	1	3	1	1	2	6			TCGA-HC-8265-01A-11D-2260-08	TCGA-HC-8265-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d96380bd-80d2-4c64-ae3f-6f886936204e	ece936c5-0f53-4010-9e99-8091c679d15b	g.chr4:121958241G>T	ENST00000379692.4	-	4	1411	c.885C>A	c.(883-885)aaC>aaA	p.N295K	NDNF_ENST00000506900.1_5'UTR	NM_024574.3	NP_078850.3	Q8TB73	NDNF_HUMAN	neuron-derived neurotrophic factor	295	Fibronectin type-III 1.				cell growth (GO:0016049)|extracellular matrix organization (GO:0030198)|negative regulation of neuron apoptotic process (GO:0043524)|neuron migration (GO:0001764)|peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of neuron projection development (GO:0010976)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	glycosaminoglycan binding (GO:0005539)|heparin binding (GO:0008201)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(3)|skin(1)|urinary_tract(1)	29						AGATGTTCTTGTTTCCTATGC	0.458																																						ENST00000379692.4																			0				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(3)|skin(1)|urinary_tract(1)	29						c.(883-885)aaC>aaA		neuron-derived neurotrophic factor							123	117	119					4																	121958241		2203	4300	6503	SO:0001583	missense	79625							g.chr4:121958241G>T	BC019351	CCDS3717.2	4q27	2011-07-05	2011-07-05	2011-07-05	ENSG00000173376	ENSG00000173376			26256	protein-coding gene	gene with protein product			"chromosome 4 open reading frame 31"	C4orf31		12975309, 20969804	Standard	NM_024574		Approved	FLJ23191	uc003idq.1	Q8TB73	OTTHUMG00000132973	ENST00000379692.4:c.885C>A	4.37:g.121958241G>T	ENSP00000369014:p.Asn295Lys					NDNF_ENST00000506900.1_5'UTR	p.N295K	NM_024574.3	NP_078850.3	Q8TB73	CD031_HUMAN			4	1411	-			295			Fibronectin type-III 1.		A8K0Q0|Q6UWE5|Q9H5P7	Missense_Mutation	SNP	ENST00000379692.4	37	c.885C>A	CCDS3717.2	.	.	.	.	.	.	.	.	.	.	G	11.83	1.756358	0.31137	.	.	ENSG00000173376	ENST00000379692	.	.	.	5.77	0.943	0.19531	.	0.039984	0.85682	D	0.000000	T	0.58047	0.2095	M	0.65975	2.015	0.58432	D	0.999999	B	0.20164	0.042	B	0.26202	0.067	T	0.54774	-0.8243	9	0.52906	T	0.07	-39.7388	10.2735	0.43497	0.3344:0.0:0.6656:0.0	.	295	Q8TB73	NDNF_HUMAN	K	295	.	ENSP00000369014:N295K	N	-	3	2	NDNF	122177691	1.000000	0.71417	0.997000	0.53966	0.997000	0.91878	0.553000	0.23391	0.062000	0.16340	0.655000	0.94253	AAC		0.458	NDNF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256532.2	NM_024574		3	51	1	0	1	1	1	3	51					T	121958241	G	T	121958241	3	4	237	1	0	0	0	0	1	0	0	0	2261	1368	48	5	825	5	C4orf31	4	121958241	Missense_Mutation	SNP	G	TCGA-HC-8265-01A-11D-2260-08	75915069	121958241	69196035	17	11021											
IL31RA	133396	broad.mit.edu	37	chr5	55204129	55204129	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgagaccaaggtggagaacaTtggcgtgaagacggtcacga	13	6	15	7	3	1	4	1	2	0	3	1	7	1	4	1	4	1	0	1	4	3	1			TCGA-HC-8265-01A-11D-2260-08	TCGA-HC-8265-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d96380bd-80d2-4c64-ae3f-6f886936204e	ece936c5-0f53-4010-9e99-8091c679d15b	g.chr5:55204129T>C	ENST00000447346.2	+	11	1456	c.1391T>C	c.(1390-1392)aTt>aCt	p.I464T	IL31RA_ENST00000354961.4_Missense_Mutation_p.I445T|IL31RA_ENST00000490985.1_Missense_Mutation_p.I322T|IL31RA_ENST00000396834.1_Missense_Mutation_p.I445T|IL31RA_ENST00000359040.5_Missense_Mutation_p.I464T|IL31RA_ENST00000297015.3_Missense_Mutation_p.I322T|IL31RA_ENST00000396836.2_Missense_Mutation_p.I464T	NM_001242636.1|NM_139017.5	NP_001229565.1|NP_620586.3	Q8NI17	IL31R_HUMAN	interleukin 31 receptor A	432	Fibronectin type-III 5. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cytokine-mediated signaling pathway (GO:0019221)|defense response (GO:0006952)|homeostatic process (GO:0042592)|JAK-STAT cascade (GO:0007259)|macrophage differentiation (GO:0030225)|MAPK cascade (GO:0000165)|monocyte differentiation (GO:0030224)|negative regulation of apoptotic process (GO:0043066)|negative regulation of macrophage activation (GO:0043031)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cytokine binding (GO:0019955)|cytokine receptor activity (GO:0004896)|protein kinase binding (GO:0019901)|transcription coactivator activity (GO:0003713)			endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|stomach(1)	21		Lung NSC(810;6.93e-05)|Prostate(74;0.00741)|Breast(144;0.0544)|Ovarian(174;0.223)				GTGGAGAACATTGGCGTGAAG	0.483																																						ENST00000396834.1																			0				endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|stomach(1)	21						c.(1333-1335)aTt>aCt		interleukin 31 receptor A							147	123	131					5																	55204129		2203	4300	6503	SO:0001583	missense	133396				anti-apoptosis|defense response|homeostatic process|JAK-STAT cascade|macrophage differentiation|MAPKKK cascade|monocyte differentiation|negative regulation of macrophage activation|positive regulation of cell proliferation|positive regulation of transcription, DNA-dependent|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|transmembrane receptor protein tyrosine kinase signaling pathway	integral to membrane|plasma membrane	cytokine receptor activity|protein kinase binding|transcription coactivator activity	g.chr5:55204129T>C	AY499339	CCDS3970.2, CCDS56365.1, CCDS56366.1, CCDS56367.1, CCDS75244.1, CCDS75245.1	5q11.2	2013-02-11			ENSG00000164509	ENSG00000164509		"Interleukins and interleukin receptors", "Fibronectin type III domain containing"	18969	protein-coding gene	gene with protein product		609510				15184896, 11877449	Standard	NM_139017		Approved	CRL3, GLM-R, CRL, Glmr, IL-31RA	uc003jql.3	Q8NI17	OTTHUMG00000097045	ENST00000447346.2:c.1391T>C	5.37:g.55204129T>C	ENSP00000415900:p.Ile464Thr					IL31RA_ENST00000297015.3_Missense_Mutation_p.I322T|IL31RA_ENST00000447346.2_Missense_Mutation_p.I464T|IL31RA_ENST00000490985.1_Missense_Mutation_p.I322T|IL31RA_ENST00000354961.4_Missense_Mutation_p.I445T|IL31RA_ENST00000396836.2_Missense_Mutation_p.I464T|IL31RA_ENST00000359040.5_Missense_Mutation_p.I464T	p.I445T	NM_001242638.1	NP_001229567.1	Q8NI17	IL31R_HUMAN			13	1830	+		Lung NSC(810;6.93e-05)|Prostate(74;0.00741)|Breast(144;0.0544)|Ovarian(174;0.223)	432			Fibronectin type-III 5.		A6NIF8|Q2TBA1|Q6EBC3|Q6EBC4|Q6EBC5|Q6EBC6|Q6UWL8|Q8WYJ0	Missense_Mutation	SNP	ENST00000447346.2	37	c.1334T>C	CCDS3970.2	.	.	.	.	.	.	.	.	.	.	T	15.04	2.715893	0.48622	.	.	ENSG00000164509	ENST00000396836;ENST00000396834;ENST00000447346;ENST00000359040;ENST00000297015;ENST00000490985;ENST00000354961	T;T;T;T;T;T;T	0.58797	0.56;0.31;0.31;0.31;0.56;0.31;0.31	6.08	6.08	0.98989	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.320086	0.35870	N	0.002930	T	0.64103	0.2568	L	0.49513	1.565	0.33877	D	0.635693	P;P;P;P;P	0.47034	0.889;0.865;0.865;0.865;0.782	P;P;P;P;P	0.53861	0.736;0.521;0.521;0.618;0.519	T	0.71262	-0.4645	10	0.30078	T	0.28	-18.4641	14.167	0.65483	0.0:0.0:0.0:1.0	.	432;464;445;464;464	Q8NI17;Q8NI17-5;Q8NI17-3;Q8NI17-2;Q8NI17-8	IL31R_HUMAN;.;.;.;.	T	464;445;464;464;322;322;445	ENSP00000380048:I464T;ENSP00000380046:I445T;ENSP00000415900:I464T;ENSP00000351935:I464T;ENSP00000297015:I322T;ENSP00000427533:I322T;ENSP00000347047:I445T	ENSP00000297015:I322T	I	+	2	0	IL31RA	55239886	0.995000	0.38212	0.977000	0.42913	0.087000	0.18053	2.125000	0.42016	2.333000	0.79357	0.533000	0.62120	ATT		0.483	IL31RA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214148.1	NM_139017		5	51	0	0	0	1	0	5	51					C	55204129	T	C	55204129	3	2	237	1	0	0	0	0	1	0	0	0	7691	1493	52	4	1433	4	IL31RA	5	55204129	Missense_Mutation	SNP	T	TCGA-HC-8265-01A-11D-2260-08		55204129	125711131	18	11022											
UTP15	84135	broad.mit.edu	37	chr5	72866487	72866502	+	Frame_Shift_Del	DEL	AGTGGAGAGTGTCCTA	AGTGGAGAGTGTCCTA	-																															tccgttgagcatgggcagccAgtggagagtgtcctactttt																										TCGA-HC-8265-01A-11D-2260-08	TCGA-HC-8265-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d96380bd-80d2-4c64-ae3f-6f886936204e	ece936c5-0f53-4010-9e99-8091c679d15b	g.chr5:72866487_72866502delAGTGGAGAGTGTCCTA	ENST00000296792.4	+	6	879_894	c.624_639delAGTGGAGAGTGTCCTA	c.(622-639)ccagtggagagtgtcctafs	p.PVESVL208fs	UTP15_ENST00000543251.1_Frame_Shift_Del_p.PVESVL18fs|UTP15_ENST00000508491.1_Frame_Shift_Del_p.PVESVL189fs	NM_001284431.1|NM_032175.2	NP_001271360.1|NP_115551.2	Q8TED0	UTP15_HUMAN	UTP15, U3 small nucleolar ribonucleoprotein, homolog (S. cerevisiae)	208					rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|skin(2)	15		Lung NSC(167;0.00405)|Ovarian(174;0.0129)		OV - Ovarian serous cystadenocarcinoma(47;7.76e-55)		ATGGGCAGCCAGTGGAGAGTGTCCTACTTTTCCCCT	0.398																																						ENST00000296792.4																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|skin(2)	15						c.(622-639)ccfs		UTP15, U3 small nucleolar ribonucleoprotein, homolog (S. cerevisiae)																																				SO:0001589	frameshift_variant	84135				rRNA processing	cytoplasm|nucleolus		g.chr5:72866487_72866502delAGTGGAGAGTGTCCTA	AL831972	CCDS34186.1, CCDS68893.1, CCDS68894.1	5q13.2	2013-01-10	2006-04-20		ENSG00000164338	ENSG00000164338		"WD repeat domain containing"	25758	protein-coding gene	gene with protein product			"UTP15, U3 small nucleolar ribonucleoprotein, homolog (yeast)"			12477932	Standard	NM_032175		Approved	FLJ12787, NET21, FLJ23637	uc003kcw.1	Q8TED0	OTTHUMG00000162453	ENST00000296792.4:c.624_639delAGTGGAGAGTGTCCTA	5.37:g.72866487_72866502delAGTGGAGAGTGTCCTA	ENSP00000296792:p.Pro208fs					UTP15_ENST00000508491.1_Frame_Shift_Del_p.PVESVL189fs|UTP15_ENST00000543251.1_Frame_Shift_Del_p.PVESVL18fs	p.PVESVL208fs	NM_032175.2	NP_115551.2	Q8TED0	UTP15_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;7.76e-55)	6	879_894	+		Lung NSC(167;0.00405)|Ovarian(174;0.0129)	208					B4DU75|B4DXK8|Q6IA60|Q96E08|Q9H9F8	Frame_Shift_Del	DEL	ENST00000296792.4	37	c.624_639delAGTGGAGAGTGTCCTA	CCDS34186.1																																																																																				0.398	UTP15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368965.1	NM_032175		9	162						9	162	---	---	---	---	-	72866502	AGTGGAGAGTGTCCTA	-	72866487	7	5	237	1	0	1	0	1	0	0	0	0	17094	175	7	0	642	0	UTP15	5	72866487	Frame_Shift_Del	DEL	AGTGGAGAGTGTCCTA	TCGA-HC-8265-01A-11D-2260-08	17662358	72866487	108048773	19	11023											
SEMA6A	57556	broad.mit.edu	37	chr5	115813744	115813744	+	Frame_Shift_Del	DEL	G	G	-																															atatcgttcacaccggccaaGgggaacctttatcacacagg																										TCGA-HC-8265-01A-11D-2260-08	TCGA-HC-8265-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d96380bd-80d2-4c64-ae3f-6f886936204e	ece936c5-0f53-4010-9e99-8091c679d15b	g.chr5:115813744delG	ENST00000343348.6	-	14	2321	c.1534delC	c.(1534-1536)cttfs	p.L512fs	CTB-118N6.3_ENST00000508640.1_RNA|CTB-118N6.3_ENST00000514214.1_RNA|SEMA6A_ENST00000257414.8_Frame_Shift_Del_p.L512fs|CTB-118N6.3_ENST00000510682.1_RNA|SEMA6A_ENST00000282394.6_Frame_Shift_Del_p.L44fs|SEMA6A_ENST00000510263.1_Frame_Shift_Del_p.L512fs	NM_020796.3	NP_065847	Q9H2E6	SEM6A_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6A	512	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				apoptotic process (GO:0006915)|axon guidance (GO:0007411)|cell surface receptor signaling pathway (GO:0007166)|centrosome localization (GO:0051642)|cytoskeleton organization (GO:0007010)|nervous system development (GO:0007399)|neuron migration (GO:0001764)|organ morphogenesis (GO:0009887)|positive regulation of neuron migration (GO:2001224)|semaphorin-plexin signaling pathway (GO:0071526)	axon (GO:0030424)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	transmembrane signaling receptor activity (GO:0004888)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31		all_cancers(142;0.00316)|all_epithelial(76;5.71e-05)|Prostate(80;0.00845)|Ovarian(225;0.0796)|Lung NSC(810;0.171)|all_lung(232;0.203)		OV - Ovarian serous cystadenocarcinoma(64;1.59e-08)|Epithelial(69;2e-08)|all cancers(49;5.7e-08)|COAD - Colon adenocarcinoma(49;0.151)		CACCGGCCAAGGGGAACCTTT	0.463																																						ENST00000343348.6																			0				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31						c.(1534-1536)ttfs		sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6A							154	147	149					5																	115813744		1999	4193	6192	SO:0001589	frameshift_variant	57556				apoptosis|axon guidance|cell surface receptor linked signaling pathway|cytoskeleton organization|organ morphogenesis	axon|integral to membrane|plasma membrane	receptor activity	g.chr5:115813744delG	AB037789	CCDS47256.1, CCDS75288.1	5q23.1	2014-07-29			ENSG00000092421			"Semaphorins"	10738	protein-coding gene	gene with protein product	"sema VIa"	605885		SEMAQ		9204478, 10993894	Standard	XM_006714663		Approved	KIAA1368, SEMA6A1, SEMA, HT018	uc010jck.3	Q9H2E6	OTTHUMG00000162987	ENST00000343348.6:c.1534delC	5.37:g.115813744delG	ENSP00000345512:p.Leu512fs					CTB-118N6.3_ENST00000508640.1_RNA|CTB-118N6.3_ENST00000514214.1_RNA|SEMA6A_ENST00000510263.1_Frame_Shift_Del_p.L512fs|SEMA6A_ENST00000282394.6_Frame_Shift_Del_p.L44fs|CTB-118N6.3_ENST00000510682.1_RNA|SEMA6A_ENST00000257414.8_Frame_Shift_Del_p.L512fs	p.L512fs	NM_020796.3	NP_065847.1	Q9H2E6	SEM6A_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;1.59e-08)|Epithelial(69;2e-08)|all cancers(49;5.7e-08)|COAD - Colon adenocarcinoma(49;0.151)	14	2321	-		all_cancers(142;0.00316)|all_epithelial(76;5.71e-05)|Prostate(80;0.00845)|Ovarian(225;0.0796)|Lung NSC(810;0.171)|all_lung(232;0.203)	512			Sema.		Q9P2H9	Frame_Shift_Del	DEL	ENST00000343348.6	37	c.1534delC	CCDS47256.1																																																																																				0.463	SEMA6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371270.1	NM_020796		31	125						31	125	---	---	---	---	-	115813744	G	-	115813744	7	5	237	1	0	1	0	1	0	0	0	0	14039	1000	35	0	1582	0	SEMA6A	5	115813744	Frame_Shift_Del	DEL	G	TCGA-HC-8265-01A-11D-2260-08	42947257	115813744	65101516	20	11024											
DMXL1	1657	broad.mit.edu	37	chr5	118507503	118507504	+	Frame_Shift_Ins	INS	-	-	T																															accactattttctagccctcINStgtcagagcaaacctcagtg																										TCGA-HC-8265-01A-11D-2260-08	TCGA-HC-8265-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d96380bd-80d2-4c64-ae3f-6f886936204e	ece936c5-0f53-4010-9e99-8091c679d15b	g.chr5:118507503_118507504insT	ENST00000311085.8	+	25	6600_6601	c.6520_6521insT	c.(6520-6522)ctgfs	p.L2174fs	DMXL1_ENST00000539542.1_Frame_Shift_Ins_p.L2174fs	NM_005509.4	NP_005500.4	Q9Y485	DMXL1_HUMAN	Dmx-like 1	2174										breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)	86		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)		TTCTAGCCCTCTGTCAGAGCAA	0.381																																						ENST00000311085.8																			0				breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)	86						c.(6520-6522)gtcfs		Dmx-like 1																																				SO:0001589	frameshift_variant	1657							g.chr5:118507503_118507504insT	AJ005821	CCDS4125.1, CCDS75289.1	5q22	2013-01-10			ENSG00000172869	ENSG00000172869		"WD repeat domain containing"	2937	protein-coding gene	gene with protein product		605671				10708522	Standard	NM_005509		Approved		uc003ksd.2	Q9Y485	OTTHUMG00000128898	ENST00000311085.8:c.6521dupT	5.37:g.118507504_118507504dupT	ENSP00000309690:p.Leu2174fs					DMXL1_ENST00000539542.1_Frame_Shift_Ins_p.V2174fs	p.V2174fs	NM_005509.4	NP_005500.4	Q9Y485	DMXL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)	25	6600_6601	+		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)	2174						Frame_Shift_Ins	INS	ENST00000311085.8	37	c.6520_6521insT	CCDS4125.1																																																																																				0.381	DMXL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250862.1	NM_005509		52	170						52	170	---	---	---	---	T	118507504	-	T	118507503	7	5	237	1	0	1	1	0	0	0	0	0	4594	912	32	0	6618	0	DMXL1	5	118507503	Frame_Shift_Ins	INS	-	TCGA-HC-8265-01A-11D-2260-08	2693759	118507503	62407757	21	11025											
KIF20A	10112	broad.mit.edu	37	chr5	137519025	137519025	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agactttgcggctatgcgagGatcaaaatggcaatccctat	12	10	10	9	2	1	1	1	0	0	1	2	3	2	2	1	3	2	2	1	3	5	3			TCGA-HC-8265-01A-11D-2260-08	TCGA-HC-8265-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d96380bd-80d2-4c64-ae3f-6f886936204e	ece936c5-0f53-4010-9e99-8091c679d15b	g.chr5:137519025G>T	ENST00000394894.3	+	8	1226	c.1000G>T	c.(1000-1002)Gat>Tat	p.D334Y	KIF20A_ENST00000508792.1_Missense_Mutation_p.D316Y	NM_005733.2	NP_005724.1	O95235	KI20A_HUMAN	kinesin family member 20A	334	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|cytokinesis (GO:0000910)|metabolic process (GO:0008152)|microtubule bundle formation (GO:0001578)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	Golgi apparatus (GO:0005794)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|nucleoplasm (GO:0005654)|spindle (GO:0005819)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|protein kinase binding (GO:0019901)|transporter activity (GO:0005215)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|liver(2)|lung(9)|prostate(2)|upper_aerodigestive_tract(1)	27			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			GCTATGCGAGGATCAAAATGG	0.488																																						ENST00000394894.3																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|liver(2)|lung(9)|prostate(2)|upper_aerodigestive_tract(1)	27						c.(1000-1002)Gat>Tat		kinesin family member 20A							64	64	64					5																	137519025		2203	4300	6503	SO:0001583	missense	10112				cytokinesis|M phase of mitotic cell cycle|microtubule-based movement|protein transport|vesicle-mediated transport	Golgi apparatus|microtubule|nucleoplasm	ATP binding|microtubule motor activity|protein binding|transporter activity	g.chr5:137519025G>T	AF070672	CCDS4199.1	5q31	2008-02-05	2003-01-13	2003-01-17	ENSG00000112984	ENSG00000112984		"Kinesins"	9787	protein-coding gene	gene with protein product		605664	"RAB6 interacting, kinesin-like (rabkinesin6)"	RAB6KIFL		11416179, 10806357	Standard	NM_005733		Approved		uc003lcj.3	O95235	OTTHUMG00000129195	ENST00000394894.3:c.1000G>T	5.37:g.137519025G>T	ENSP00000378356:p.Asp334Tyr					KIF20A_ENST00000508792.1_Missense_Mutation_p.D316Y	p.D334Y	NM_005733.2	NP_005724.1	O95235	KI20A_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)		8	1226	+			334			Kinesin-motor.		B4DL79|D3DQB6	Missense_Mutation	SNP	ENST00000394894.3	37	c.1000G>T	CCDS4199.1	.	.	.	.	.	.	.	.	.	.	G	19.85	3.904418	0.72868	.	.	ENSG00000112984	ENST00000394894;ENST00000508792	T;T	0.54675	0.56;0.56	5.4	5.4	0.78164	Kinesin, motor domain (4);	0.000000	0.46442	D	0.000284	T	0.77751	0.4177	M	0.87682	2.9	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.81508	-0.0901	10	0.72032	D	0.01	-15.4338	19.1897	0.93660	0.0:0.0:1.0:0.0	.	316;334	B4DL79;O95235	.;KI20A_HUMAN	Y	334;316	ENSP00000378356:D334Y;ENSP00000420880:D316Y	ENSP00000378356:D334Y	D	+	1	0	KIF20A	137546924	1.000000	0.71417	1.000000	0.80357	0.763000	0.43281	9.476000	0.97823	2.548000	0.85928	0.655000	0.94253	GAT		0.488	KIF20A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251272.1	NM_005733		14	53	1	0	1.3612e-06	1	1.53314e-06	14	53					T	137519025	G	T	137519025	3	4	237	1	0	0	0	0	1	0	0	0	8286	1174	41	5	1026	5	KIF20A	5	137519025	Missense_Mutation	SNP	G	TCGA-HC-8265-01A-11D-2260-08	19011522	137519025	43396235	22	11026											
RASGEF1C	255426	broad.mit.edu	37	chr5	179565029	179565029	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgcctggggtgaccatgtcGgaggcactcagcgtctgtgg	5	9	16	11	2	2	1	1	1	1	0	3	2	2	2	2	5	2	1	2	5	0	0			TCGA-HC-8265-01A-11D-2260-08	TCGA-HC-8265-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d96380bd-80d2-4c64-ae3f-6f886936204e	ece936c5-0f53-4010-9e99-8091c679d15b	g.chr5:179565029G>A	ENST00000393371.2	-	1	320	c.24C>T	c.(22-24)tcC>tcT	p.S8S	RASGEF1C_ENST00000361132.4_Silent_p.S8S|RASGEF1C_ENST00000522500.1_5'Flank|RASGEF1C_ENST00000519883.1_5'Flank			Q8N431	RGF1C_HUMAN	RasGEF domain family, member 1C	8					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	intracellular (GO:0005622)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|stomach(1)	12	all_cancers(89;3.44e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	all_cancers(40;0.0242)|Medulloblastoma(196;0.00498)|all_neural(177;0.0137)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TGACCATGTCGGAGGCACTCA	0.657																																						ENST00000393371.2																			0				breast(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|stomach(1)	12						c.(22-24)tcC>tcT		RasGEF domain family, member 1C							59	54	56					5																	179565029		2203	4300	6503	SO:0001819	synonymous_variant	255426				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	guanyl-nucleotide exchange factor activity	g.chr5:179565029G>A	AK093160	CCDS4452.1	5q35.3	2005-08-16			ENSG00000146090	ENSG00000146090			27400	protein-coding gene	gene with protein product						12477932	Standard	XM_006714839		Approved	FLJ35841	uc003mlr.3	Q8N431	OTTHUMG00000130914	ENST00000393371.2:c.24C>T	5.37:g.179565029G>A						RASGEF1C_ENST00000361132.4_Silent_p.S8S	p.S8S			Q8N431	RGF1C_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		1	320	-	all_cancers(89;3.44e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	all_cancers(40;0.0242)|Medulloblastoma(196;0.00498)|all_neural(177;0.0137)	8					D3DWQ7|Q7Z4T0|Q8NA49	Silent	SNP	ENST00000393371.2	37	c.24C>T	CCDS4452.1																																																																																				0.657	RASGEF1C-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253506.2	NM_175062		5	105	0	0	0	1	0	5	105					A	179565029	G	A	179565029	2	1	237	1	0	0	0	0	0	0	0	1	13071	1103	39	2		2	RASGEF1C	5	179565029	Silent	SNP	G	TCGA-HC-8265-01A-11D-2260-08	42046004	179565029	1350231	23	11027											
DSP	1832	broad.mit.edu	37	chr6	7575021	7575021	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	agtggaagcttaccgctgtgGactgaaggtaacttgaaagc	12	9	13	7	1	0	2	0	2	0	0	0	4	0	4	1	3	4	3	1	3	5	3			TCGA-HC-8265-01A-11D-2260-08	TCGA-HC-8265-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d96380bd-80d2-4c64-ae3f-6f886936204e	ece936c5-0f53-4010-9e99-8091c679d15b	g.chr6:7575021G>A	ENST00000379802.3	+	17	2770	c.2429G>A	c.(2428-2430)gGa>gAa	p.G810E	DSP_ENST00000418664.2_Missense_Mutation_p.G810E	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	810	Globular 1.				adherens junction organization (GO:0034332)|apoptotic process (GO:0006915)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|desmosome organization (GO:0002934)|epidermis development (GO:0008544)|intermediate filament organization (GO:0045109)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)|protein localization to adherens junction (GO:0071896)|regulation of heart rate by cardiac conduction (GO:0086091)|single organismal cell-cell adhesion (GO:0016337)|ventricular cardiac muscle cell action potential (GO:0086005)|ventricular compact myocardium morphogenesis (GO:0003223)|wound healing (GO:0042060)	basolateral plasma membrane (GO:0016323)|cornified envelope (GO:0001533)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intercalated disc (GO:0014704)|intermediate filament (GO:0005882)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|protein binding, bridging (GO:0030674)|protein kinase C binding (GO:0005080)|scaffold protein binding (GO:0097110)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)	p.G810E(1)		biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		TACCGCTGTGGACTGAAGGTA	0.438																																						ENST00000379802.3																			1	Substitution - Missense(1)	p.G810E(1)	lung(1)	biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101						c.(2428-2430)gGa>gAa		desmoplakin							84	81	82					6																	7575021		2203	4300	6503	SO:0001583	missense	1832				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton	g.chr6:7575021G>A	J05211	CCDS4501.1, CCDS47368.1	6p24.3	2014-09-17	2003-05-20		ENSG00000096696	ENSG00000096696			3052	protein-coding gene	gene with protein product		125647	"desmoplakin (DPI, DPII)"			1889810	Standard	NM_004415		Approved	KPPS2, PPKS2, DPI, DPII	uc003mxp.1	P15924	OTTHUMG00000014212	ENST00000379802.3:c.2429G>A	6.37:g.7575021G>A	ENSP00000369129:p.Gly810Glu					DSP_ENST00000418664.2_Missense_Mutation_p.G810E	p.G810E	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN		OV - Ovarian serous cystadenocarcinoma(45;0.000508)	17	2770	+	Ovarian(93;0.0584)	all_hematologic(90;0.236)	810			Globular 1.		B2RTT2|D7RX09|O75993|Q14189|Q9UHN4	Missense_Mutation	SNP	ENST00000379802.3	37	c.2429G>A	CCDS4501.1	.	.	.	.	.	.	.	.	.	.	G	11.44	1.639276	0.29157	.	.	ENSG00000096696	ENST00000379802;ENST00000418664;ENST00000397483	T;T	0.80480	-1.38;-1.38	5.82	5.82	0.92795	.	0.207171	0.33834	N	0.004508	T	0.34250	0.0891	N	0.01874	-0.695	0.38714	D	0.95328	P;P	0.34462	0.454;0.454	B;B	0.27887	0.084;0.084	T	0.58120	-0.7692	10	0.02654	T	1	.	15.5653	0.76287	0.0:0.1371:0.8628:0.0	.	857;810	Q4LE79;P15924	.;DESP_HUMAN	E	810;810;615	ENSP00000369129:G810E;ENSP00000396591:G810E	ENSP00000369129:G810E	G	+	2	0	DSP	7520020	0.999000	0.42202	0.998000	0.56505	0.991000	0.79684	5.565000	0.67365	2.752000	0.94435	0.655000	0.94253	GGA		0.438	DSP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039786.2	NM_004415		9	37	0	0	0	1	0	9	37					A	7575021	G	A	7575021	3	1	237	1	0	0	0	0	1	0	0	0	4781	1174	41	3	2495	3	DSP	6	7575021	Missense_Mutation	SNP	G	TCGA-HC-8265-01A-11D-2260-08		7575021	163540046	24	11028											
TBC1D7	51256	broad.mit.edu	37	chr6	13321294	13321294	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccttacgatacatcatcaccTtggcatgggactcgtggtgt	8	12	10	11	2	2	0	2	0	0	0	3	2	2	1	2	3	2	1	2	3	2	3			TCGA-HC-8265-01A-11D-2260-08	TCGA-HC-8265-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d96380bd-80d2-4c64-ae3f-6f886936204e	ece936c5-0f53-4010-9e99-8091c679d15b	g.chr6:13321294T>C	ENST00000379300.3	-	4	470	c.227A>G	c.(226-228)aAg>aGg	p.K76R	TBC1D7_ENST00000607658.1_Missense_Mutation_p.K49R|TBC1D7_ENST00000356436.4_Missense_Mutation_p.K76R|TBC1D7_ENST00000379307.2_Missense_Mutation_p.K49R|TBC1D7_ENST00000343141.4_Missense_Mutation_p.K76R|TBC1D7_ENST00000607532.1_5'UTR	NM_001143964.2|NM_016495.4	NP_001137436.1|NP_057579.1	Q9P0N9	TBCD7_HUMAN	TBC1 domain family, member 7	76	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.				activation of Rho GTPase activity (GO:0032862)|negative regulation of cilium assembly (GO:1902018)|negative regulation of TOR signaling (GO:0032007)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of Rab GTPase activity (GO:0032851)|response to growth factor (GO:0070848)	ciliary basal body (GO:0036064)|cytoplasmic vesicle (GO:0031410)	Rab GTPase activator activity (GO:0005097)|Rab GTPase binding (GO:0017137)			breast(1)|endometrium(1)|large_intestine(4)|lung(14)|ovary(1)|stomach(1)	22	Breast(50;0.0296)|Ovarian(93;0.0339)	all_hematologic(90;0.135)	Epithelial(50;0.0784)|BRCA - Breast invasive adenocarcinoma(129;0.13)|all cancers(50;0.21)			CATCATCACCTTGGCATGGGA	0.463																																						ENST00000607658.1																			0				breast(1)|endometrium(1)|large_intestine(4)|lung(14)|ovary(1)|stomach(1)	22						c.(145-147)aAg>aGg		TBC1 domain family, member 7							242	222	229					6																	13321294		2203	4300	6503	SO:0001583	missense	51256				positive regulation of protein ubiquitination	cytoplasmic membrane-bounded vesicle	protein binding|Rab GTPase activator activity	g.chr6:13321294T>C	AF151073	CCDS4523.1, CCDS47376.1, CCDS58995.1	6p23	2013-07-10			ENSG00000145979	ENSG00000145979			21066	protein-coding gene	gene with protein product		612655				11042152, 17646400	Standard	XM_005249163		Approved	dJ257A7.3, FLJ32666	uc003nan.3	Q9P0N9	OTTHUMG00000014272	ENST00000379300.3:c.227A>G	6.37:g.13321294T>C	ENSP00000368602:p.Lys76Arg					TBC1D7_ENST00000379300.3_Missense_Mutation_p.K76R|TBC1D7_ENST00000379307.2_Missense_Mutation_p.K49R|TBC1D7_ENST00000607532.1_5'UTR|TBC1D7_ENST00000343141.4_Missense_Mutation_p.K76R|TBC1D7_ENST00000356436.4_Missense_Mutation_p.K76R	p.K49R			Q9P0N9	TBCD7_HUMAN	Epithelial(50;0.0784)|BRCA - Breast invasive adenocarcinoma(129;0.13)|all cancers(50;0.21)		3	296	-	Breast(50;0.0296)|Ovarian(93;0.0339)	all_hematologic(90;0.135)	76					E7EV96|Q2TU37|Q53F44|Q5SZL7|Q86VM8|Q96MB8	Missense_Mutation	SNP	ENST00000379300.3	37	c.146A>G	CCDS4523.1	.	.	.	.	.	.	.	.	.	.	T	12.94	2.088243	0.36855	.	.	ENSG00000145979	ENST00000334971;ENST00000421203;ENST00000356436;ENST00000379300;ENST00000379307;ENST00000343141;ENST00000452989;ENST00000450347;ENST00000422136;ENST00000446018;ENST00000420456;ENST00000428109;ENST00000416436;ENST00000379291	T;T;T;T;T;T;T;T;T;T;T;T;T	0.29142	2.33;2.33;2.33;1.58;3.82;1.58;1.58;2.33;1.58;1.58;2.33;2.33;3.82	5.76	3.33	0.38152	Rab-GAP/TBC domain (1);	0.240920	0.42420	D	0.000714	T	0.05868	0.0153	N	0.22421	0.69	0.23271	N	0.998003	B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0	B;B;B;B;B	0.04013	0.001;0.001;0.0;0.0;0.0	T	0.37641	-0.9697	10	0.25106	T	0.35	-4.4741	5.4285	0.16440	0.4068:0.0762:0.0:0.5169	.	76;49;49;49;76	Q2TU37;Q5JPB9;Q5SZL5;Q9P0N9-2;Q9P0N9	.;.;.;.;TBCD7_HUMAN	R	17;76;76;76;49;76;49;49;76;49;49;76;76;76	ENSP00000401438:K76R;ENSP00000348813:K76R;ENSP00000368602:K76R;ENSP00000368609:K49R;ENSP00000343100:K76R;ENSP00000414292:K49R;ENSP00000404680:K49R;ENSP00000394425:K76R;ENSP00000417005:K49R;ENSP00000412102:K49R;ENSP00000414101:K76R;ENSP00000401339:K76R;ENSP00000368593:K76R	ENSP00000334212:K17R	K	-	2	0	TBC1D7	13429273	1.000000	0.71417	0.975000	0.42487	0.908000	0.53690	3.608000	0.54109	0.435000	0.26365	0.397000	0.26171	AAG		0.463	TBC1D7-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039896.2	NM_016495		17	257	0	0	0	1	0	17	257					C	13321294	T	C	13321294	3	2	237	1	0	0	0	0	1	0	0	0	15621	1609	56	4	674	4	TBC1D7	6	13321294	Missense_Mutation	SNP	T	TCGA-HC-8265-01A-11D-2260-08	5746273	13321294	157793773	25	11029											
ZNF311	282890	broad.mit.edu	37	chr6	28963131	28963131	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttgtgaggcttctctccagTgtgaattcttcgatgattgg	6	17	11	7	1	2	3	0	3	2	0	5	4	3	3	1	2	0	1	1	2	1	5			TCGA-HC-8265-01A-11D-2260-08	TCGA-HC-8265-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d96380bd-80d2-4c64-ae3f-6f886936204e	ece936c5-0f53-4010-9e99-8091c679d15b	g.chr6:28963131T>C	ENST00000377179.3	-	7	2160	c.1648A>G	c.(1648-1650)Act>Gct	p.T550A	ZNF311_ENST00000483450.1_5'UTR	NM_001010877.2	NP_001010877.2	Q5JNZ3	ZN311_HUMAN	zinc finger protein 311	550					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|skin(3)|upper_aerodigestive_tract(2)	28						TTCTCTCCAGTGTGAATTCTT	0.448																																						ENST00000377179.3																			0				NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|skin(3)|upper_aerodigestive_tract(2)	28						c.(1648-1650)Act>Gct		zinc finger protein 311							98	90	93					6																	28963131		1511	2709	4220	SO:0001583	missense	282890				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr6:28963131T>C	AL833166	CCDS34357.1	6p21.33	2013-01-08			ENSG00000197935	ENSG00000197935		"Zinc fingers, C2H2-type", "-"	13847	protein-coding gene	gene with protein product							Standard	XM_006715067		Approved		uc003nlu.2	Q5JNZ3	OTTHUMG00000031292	ENST00000377179.3:c.1648A>G	6.37:g.28963131T>C	ENSP00000366384:p.Thr550Ala					ZNF311_ENST00000483450.1_5'UTR	p.T550A	NM_001010877.2	NP_001010877.2	Q5JNZ3	ZN311_HUMAN			7	2160	-			550					A2BFK5|B0S7Y4|Q92971	Missense_Mutation	SNP	ENST00000377179.3	37	c.1648A>G	CCDS34357.1	.	.	.	.	.	.	.	.	.	.	T	14.27	2.485599	0.44147	.	.	ENSG00000197935	ENST00000377179;ENST00000535083	T	0.26518	1.73	3.69	3.69	0.42338	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.09379	0.0231	L	0.35593	1.075	0.24781	N	0.992817	B	0.28512	0.214	B	0.33568	0.166	T	0.22836	-1.0205	9	0.72032	D	0.01	-10.8866	6.8036	0.23764	0.2086:0.0:0.0:0.7914	.	550	Q5JNZ3	ZN311_HUMAN	A	550;458	ENSP00000366384:T550A	ENSP00000366384:T550A	T	-	1	0	ZNF311	29071110	1.000000	0.71417	0.655000	0.29622	0.408000	0.30992	3.969000	0.56816	1.619000	0.50296	0.477000	0.44152	ACT		0.448	ZNF311-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076631.3	XM_212581		4	72	0	0	0	1	0	4	72					C	28963131	T	C	28963131	3	2	237	1	0	0	0	0	1	0	0	0	17831	1696	59	4	356	4	ZNF311	6	28963131	Missense_Mutation	SNP	T	TCGA-HC-8265-01A-11D-2260-08	15641837	28963131	142151936	26	11030											
OR2J2	26707	broad.mit.edu	37	chr6	29142063	29142063	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cctctcattctcattctcacTacctatggtgccattgcccg	6	14	5	16	1	3	0	3	0	3	0	6	0	3	0	4	1	3	0	4	1	2	5			TCGA-HC-8265-01A-11D-2260-08	TCGA-HC-8265-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d96380bd-80d2-4c64-ae3f-6f886936204e	ece936c5-0f53-4010-9e99-8091c679d15b	g.chr6:29142063T>A	ENST00000377167.2	+	1	753	c.651T>A	c.(649-651)acT>acA	p.T217T		NM_030905.2	NP_112167.2	O76002	OR2J2_HUMAN	olfactory receptor, family 2, subfamily J, member 2	217						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(17)|ovary(1)|upper_aerodigestive_tract(1)	25						TCATTCTCACTACCTATGGTG	0.468																																						ENST00000377167.2																			0				endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(17)|ovary(1)|upper_aerodigestive_tract(1)	25						c.(649-651)acT>acA		olfactory receptor, family 2, subfamily J, member 2							156	130	138					6																	29142063		1944	4145	6089	SO:0001819	synonymous_variant	26707				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr6:29142063T>A		CCDS43434.1	6p22.2-p21.31	2012-08-09			ENSG00000204700	ENSG00000204700		"GPCR / Class A : Olfactory receptors"	8260	protein-coding gene	gene with protein product							Standard	NM_030905		Approved	OR6-8, hs6M1-6, dJ80I19.4	uc011dlm.2	O76002	OTTHUMG00000031091	ENST00000377167.2:c.651T>A	6.37:g.29142063T>A							p.T217T	NM_030905.2	NP_112167.2	O76002	OR2J2_HUMAN			1	753	+			217					A6NCU9|A6NLD0|B0UY53|Q32N09|Q5ST39|Q5SUJ6|Q6IF24|Q9GZK2|Q9GZL3	Silent	SNP	ENST00000377167.2	37	c.651T>A	CCDS43434.1																																																																																				0.468	OR2J2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076131.2			6	70	0	0	0	1	0	6	70					A	29142063	T	A	29142063	2	1	237	1	0	0	0	0	0	0	0	1	11003	1509	53	5		5	OR2J2	6	29142063	Silent	SNP	T	TCGA-HC-8265-01A-11D-2260-08	178932	29142063	141973004	27	11031											
TDRD6	221400	broad.mit.edu	37	chr6	46660093	46660093	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggcttgaccttgttaatgcaAtattgccggggttgtgcatt	7	15	12	7	1	0	1	0	1	0	0	0	1	0	1	2	3	3	5	2	3	3	7	rs74443068	byFrequency	TCGA-HC-8265-01A-11D-2260-08	TCGA-HC-8265-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d96380bd-80d2-4c64-ae3f-6f886936204e	ece936c5-0f53-4010-9e99-8091c679d15b	g.chr6:46660093A>T	ENST00000316081.6	+	1	4228	c.4228A>T	c.(4228-4230)Ata>Tta	p.I1410L	TDRD6_ENST00000544460.1_Missense_Mutation_p.I1410L	NM_001010870.2	NP_001010870.1	O60522	TDRD6_HUMAN	tudor domain containing 6	1410	Tudor 6. {ECO:0000255|PROSITE- ProRule:PRU00211}.				germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|P granule (GO:0043186)				NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80			Lung(136;0.192)			TGTTAATGCAATATTGCCGGG	0.403																																						ENST00000544460.1																			0				NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						c.(4228-4230)Ata>Tta		tudor domain containing 6							203	209	207					6																	46660093		2203	4299	6502	SO:0001583	missense	221400				cell differentiation|multicellular organismal development|spermatogenesis	chromatoid body	nucleic acid binding	g.chr6:46660093A>T	AF039442	CCDS34470.1, CCDS55017.1	6p12.3	2013-01-23			ENSG00000180113	ENSG00000180113		"Tudor domain containing"	21339	protein-coding gene	gene with protein product	"cancer/testis antigen 41.2", "spermatogenesis associated 36"	611200				9610721	Standard	NM_001010870		Approved	NY-CO-45, bA446F17.4, CT41.2, SPATA36	uc003oyj.3	O60522	OTTHUMG00000014788	ENST00000316081.6:c.4228A>T	6.37:g.46660093A>T	ENSP00000346065:p.Ile1410Leu					TDRD6_ENST00000316081.6_Missense_Mutation_p.I1410L	p.I1410L	NM_001168359.1	NP_001161831.1	O60522	TDRD6_HUMAN	Lung(136;0.192)		1	4482	+			1410			Tudor 6.		B3KWU2|F5H5M3|Q5HYB1|Q5VTS4|Q6ZMX5	Missense_Mutation	SNP	ENST00000316081.6	37	c.4228A>T	CCDS34470.1	.	.	.	.	.	.	.	.	.	.	A	0.058	-1.230694	0.01518	.	.	ENSG00000180113	ENST00000544460;ENST00000316081	T;T	0.09073	3.02;3.02	5.62	-11.2	0.00127	Tudor subgroup (1);Maternal tudor protein (1);	1.660630	0.02993	N	0.147085	T	0.00412	0.0013	N	0.00268	-1.735	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.46527	-0.9185	10	0.20046	T	0.44	-12.0227	4.3768	0.11274	0.2572:0.1755:0.4416:0.1256	.	1410;1410	F5H5M3;O60522	.;TDRD6_HUMAN	L	1410	ENSP00000443299:I1410L;ENSP00000346065:I1410L	ENSP00000346065:I1410L	I	+	1	0	TDRD6	46768052	0.000000	0.05858	0.000000	0.03702	0.015000	0.08874	-0.308000	0.08156	-2.320000	0.00642	-0.132000	0.14878	ATA		0.403	TDRD6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040800.1	XM_166443		94	206	0	0	0	1	0	94	206					T	46660093	A	T	46660093	3	4	237	1	0	0	0	0	1	0	0	0	15731	101	4	5	4230	5	TDRD6	6	46660093	Missense_Mutation	SNP	A	TCGA-HC-8265-01A-11D-2260-08	17518030	46660093	124454974	28	11032											
GPR110	266977	broad.mit.edu	37	chr6	46991864	46991864	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgctccagccgtgtgaaggtAgcagttctggggatcaaggc	8	9	15	9	1	2	1	1	1	1	0	3	2	3	2	2	4	3	4	2	4	3	2			TCGA-HC-8265-01A-11D-2260-08	TCGA-HC-8265-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d96380bd-80d2-4c64-ae3f-6f886936204e	ece936c5-0f53-4010-9e99-8091c679d15b	g.chr6:46991864A>G	ENST00000371253.2	-	5	582	c.367T>C	c.(367-369)Tac>Cac	p.Y123H	GPR110_ENST00000449332.2_5'UTR|GPR110_ENST00000371243.2_Missense_Mutation_p.Y123H	NM_153840.2	NP_722582.2	Q5T601	GP110_HUMAN	G protein-coupled receptor 110	123					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	29						GTGTGAAGGTAGCAGTTCTGG	0.493																																						ENST00000371253.2																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	29						c.(367-369)Tac>Cac		G protein-coupled receptor 110							138	111	120					6																	46991864		2203	4300	6503	SO:0001583	missense	266977				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr6:46991864A>G	AB083618	CCDS4920.1, CCDS34471.1	6p21.1	2014-08-08			ENSG00000153292	ENSG00000153292		"-", "GPCR / Class B : Orphans"	18990	protein-coding gene	gene with protein product						12435584, 14623098	Standard	XM_005249006		Approved	hGPCR36, PGR19	uc003oyt.3	Q5T601	OTTHUMG00000014795	ENST00000371253.2:c.367T>C	6.37:g.46991864A>G	ENSP00000360299:p.Tyr123His					GPR110_ENST00000371243.2_Missense_Mutation_p.Y123H|GPR110_ENST00000449332.2_5'UTR	p.Y123H	NM_153840.2	NP_722582.2	Q5T601	GP110_HUMAN			5	582	-			123					Q5KU15|Q5T5Z9|Q5T600|Q86SM1|Q8IXE3|Q8IZF8|Q96DQ1|Q9H615	Missense_Mutation	SNP	ENST00000371253.2	37	c.367T>C	CCDS34471.1	.	.	.	.	.	.	.	.	.	.	A	1.950	-0.441428	0.04604	.	.	ENSG00000153292	ENST00000371252;ENST00000371253;ENST00000371243	T	0.32023	1.47	5.51	-3.06	0.05379	.	0.964174	0.08518	N	0.933958	T	0.04137	0.0115	N	0.19112	0.55	0.26648	N	0.972151	B;B	0.09022	0.002;0.0	B;B	0.09377	0.004;0.001	T	0.39272	-0.9622	10	0.17832	T	0.49	3.4124	2.149	0.03795	0.2708:0.1595:0.4138:0.1559	.	123;123	Q5T601-2;Q5T601	.;GP110_HUMAN	H	123	ENSP00000360299:Y123H	ENSP00000360289:Y123H	Y	-	1	0	GPR110	47099823	0.877000	0.30153	0.021000	0.16686	0.261000	0.26267	0.811000	0.27198	-0.481000	0.06792	0.533000	0.62120	TAC		0.493	GPR110-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040810.2	NM_153840		21	33	0	0	0	1	0	21	33					G	46991864	A	G	46991864	3	3	237	1	0	0	0	0	1	0	0	0	6627	420	15	4	2459	4	GPR110	6	46991864	Missense_Mutation	SNP	A	TCGA-HC-8265-01A-11D-2260-08	331771	46991864	124123203	29	11033											
FAM83B	222584	broad.mit.edu	37	chr6	54805205	54805205	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatatccgctttttgcaacAacgaatgccaacccttgaac	12	10	5	14	2	0	1	0	1	0	0	1	2	1	1	4	0	6	2	4	0	6	4			TCGA-HC-8265-01A-11D-2260-08	TCGA-HC-8265-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d96380bd-80d2-4c64-ae3f-6f886936204e	ece936c5-0f53-4010-9e99-8091c679d15b	g.chr6:54805205A>T	ENST00000306858.7	+	5	1552	c.1436A>T	c.(1435-1437)cAa>cTa	p.Q479L	RP3-523K23.2_ENST00000562834.1_RNA	NM_001010872.1	NP_001010872.1	Q5T0W9	FA83B_HUMAN	family with sequence similarity 83, member B	479										autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71	Lung NSC(77;0.0178)|Renal(3;0.122)					TTTTTGCAACAACGAATGCCA	0.403																																						ENST00000306858.7																			0				autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71						c.(1435-1437)cAa>cTa		family with sequence similarity 83, member B							89	89	89					6																	54805205		2203	4300	6503	SO:0001583	missense	222584							g.chr6:54805205A>T	AK055204	CCDS34479.1	6p12.1	2014-03-13	2006-03-23	2006-03-23	ENSG00000168143	ENSG00000168143			21357	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 143"	C6orf143		22886302	Standard	NM_001010872		Approved	FLJ30642	uc003pck.4	Q5T0W9	OTTHUMG00000014899	ENST00000306858.7:c.1436A>T	6.37:g.54805205A>T	ENSP00000304078:p.Gln479Leu						p.Q479L	NM_001010872.1	NP_001010872.1	Q5T0W9	FA83B_HUMAN			5	1552	+	Lung NSC(77;0.0178)|Renal(3;0.122)		479					Q2M1P3|Q96DQ2	Missense_Mutation	SNP	ENST00000306858.7	37	c.1436A>T	CCDS34479.1	.	.	.	.	.	.	.	.	.	.	A	19.75	3.886583	0.72410	.	.	ENSG00000168143	ENST00000306858	T	0.37058	1.22	5.56	5.56	0.83823	.	0.000000	0.85682	D	0.000000	T	0.30479	0.0766	L	0.29908	0.895	0.58432	D	0.999998	D	0.59767	0.986	P	0.53266	0.722	T	0.13683	-1.0500	10	0.87932	D	0	-17.3867	16.0092	0.80385	1.0:0.0:0.0:0.0	.	479	Q5T0W9	FA83B_HUMAN	L	479	ENSP00000304078:Q479L	ENSP00000304078:Q479L	Q	+	2	0	FAM83B	54913164	1.000000	0.71417	0.990000	0.47175	0.935000	0.57460	8.521000	0.90569	2.240000	0.73641	0.533000	0.62120	CAA		0.403	FAM83B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040994.1	XM_294139		4	111	0	0	0	1	0	4	111					T	54805205	A	T	54805205	3	4	237	1	0	0	0	0	1	0	0	0	5634	130	5	5	1450	5	FAM83B	6	54805205	Missense_Mutation	SNP	A	TCGA-HC-8265-01A-11D-2260-08	7813341	54805205	116309862	30	11034											
IMPG1	3617	broad.mit.edu	37	chr6	76660739	76660739	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gatcagtcagagagaagatgCttgatgccataaagaaaggt	16	8	12	5	0	2	5	2	1	0	4	2	7	2	5	1	1	2	1	1	1	4	2			TCGA-HC-8265-01A-11D-2260-08	TCGA-HC-8265-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d96380bd-80d2-4c64-ae3f-6f886936204e	ece936c5-0f53-4010-9e99-8091c679d15b	g.chr6:76660739C>T	ENST00000369950.3	-	13	1553	c.1364G>A	c.(1363-1365)aGc>aAc	p.S455N	IMPG1_ENST00000369963.3_3'UTR	NM_001282368.1|NM_001563.2	NP_001269297.1|NP_001554.2			interphotoreceptor matrix proteoglycan 1											breast(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(8)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	63		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)				AGAGAAGATGCTTGATGCCAT	0.483																																					Pancreas(37;839 1141 2599 26037)	ENST00000369950.3																			0				breast(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(8)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						c.(1363-1365)aGc>aAc		interphotoreceptor matrix proteoglycan 1							145	141	143					6																	76660739		2203	4300	6503	SO:0001583	missense	3617				visual perception	proteinaceous extracellular matrix	extracellular matrix structural constituent|receptor activity	g.chr6:76660739C>T	AF017776	CCDS4985.1, CCDS75483.1	6q14.2-q15	2008-02-05	2004-05-25		ENSG00000112706	ENSG00000112706			6055	protein-coding gene	gene with protein product		602870	"sialoprotein associated with cones and rods"	SPACR			Standard	NM_001282368		Approved	IPM150, GP147	uc003pik.1	Q17R60	OTTHUMG00000015063	ENST00000369950.3:c.1364G>A	6.37:g.76660739C>T	ENSP00000358966:p.Ser455Asn					IMPG1_ENST00000369963.3_3'UTR	p.S455N	NM_001563.2	NP_001554.2	Q17R60	IMPG1_HUMAN			13	1553	-		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)	455						Missense_Mutation	SNP	ENST00000369950.3	37	c.1364G>A	CCDS4985.1	.	.	.	.	.	.	.	.	.	.	C	10.25	1.298565	0.23650	.	.	ENSG00000112706	ENST00000369950	T	0.25414	1.8	5.74	5.74	0.90152	.	0.069758	0.64402	D	0.000011	T	0.20047	0.0482	L	0.59436	1.845	0.58432	D	0.999998	B	0.22604	0.072	B	0.28709	0.093	T	0.01977	-1.1236	10	0.54805	T	0.06	.	17.0903	0.86620	0.0:1.0:0.0:0.0	.	455	Q17R60	IMPG1_HUMAN	N	455	ENSP00000358966:S455N	ENSP00000358966:S455N	S	-	2	0	IMPG1	76717459	0.158000	0.22850	0.260000	0.24451	0.008000	0.06430	2.881000	0.48538	2.712000	0.92718	0.650000	0.86243	AGC		0.483	IMPG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041288.1	NM_001563		3	63	0	0	0	1	0	3	63					T	76660739	C	T	76660739	3	4	237	1	0	0	0	0	1	0	0	0	7728	797	28	3	1049	3	IMPG1	6	76660739	Missense_Mutation	SNP	C	TCGA-HC-8265-01A-11D-2260-08	21855534	76660739	94454328	31	11035											
MDN1	23195	broad.mit.edu	37	chr6	90363906	90363906	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agggtgctgtggtgcccgacTtgatttcctctggcttcagc	4	13	13	11	1	2	1	1	1	1	0	3	2	3	1	2	3	3	2	2	3	0	3	rs538003553		TCGA-HC-8265-01A-11D-2260-08	TCGA-HC-8265-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d96380bd-80d2-4c64-ae3f-6f886936204e	ece936c5-0f53-4010-9e99-8091c679d15b	g.chr6:90363906T>C	ENST00000369393.3	-	93	15753	c.15638A>G	c.(15637-15639)aAg>aGg	p.K5213R	MDN1_ENST00000428876.1_Missense_Mutation_p.K5213R			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	5213					ATP catabolic process (GO:0006200)|protein complex assembly (GO:0006461)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|unfolded protein binding (GO:0051082)			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		GGTGCCCGACTTGATTTCCTC	0.522																																						ENST00000369393.3																			0				NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218						c.(15637-15639)aAg>aGg		MDN1, midasin homolog (yeast)							258	218	231					6																	90363906		2203	4300	6503	SO:0001583	missense	23195				protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding	g.chr6:90363906T>C	AF503925	CCDS5024.1	6q15	2014-01-28			ENSG00000112159	ENSG00000112159			18302	protein-coding gene	gene with protein product						9205841, 12102729	Standard	XM_005248699		Approved	KIAA0301	uc003pnn.1	Q9NU22	OTTHUMG00000015213	ENST00000369393.3:c.15638A>G	6.37:g.90363906T>C	ENSP00000358400:p.Lys5213Arg					MDN1_ENST00000428876.1_Missense_Mutation_p.K5213R	p.K5213R			Q9NU22	MDN1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0193)	93	15753	-		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)	5213					O15019|Q5T794	Missense_Mutation	SNP	ENST00000369393.3	37	c.15638A>G	CCDS5024.1	.	.	.	.	.	.	.	.	.	.	T	7.484	0.649340	0.14516	.	.	ENSG00000112159	ENST00000369393;ENST00000428876	T;T	0.03441	3.93;3.93	5.98	3.5	0.40072	.	0.408346	0.26696	N	0.022970	T	0.00695	0.0023	N	0.19112	0.55	0.21719	N	0.999575	B	0.10296	0.003	B	0.08055	0.003	T	0.49485	-0.8935	10	0.25751	T	0.34	.	3.6477	0.08191	0.1219:0.0679:0.2531:0.5571	.	5213	Q9NU22	MDN1_HUMAN	R	5213	ENSP00000358400:K5213R;ENSP00000413970:K5213R	ENSP00000358400:K5213R	K	-	2	0	MDN1	90420627	0.954000	0.32549	0.803000	0.32268	0.007000	0.05969	1.595000	0.36708	0.464000	0.27142	-0.460000	0.05396	AAG		0.522	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041514.2			46	103	0	0	0	1	0	46	103					C	90363906	T	C	90363906	3	2	237	1	0	0	0	0	1	0	0	0	9415	1609	56	4	1192	4	MDN1	6	90363906	Missense_Mutation	SNP	T	TCGA-HC-8265-01A-11D-2260-08	13703167	90363906	80751161	32	11036											
RBM16	22828	broad.mit.edu	37	chr6	155131226	155131226	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aaagcgatcacgctcccgctCaagagaaagaaagaggaaat	18	4	10	9	3	2	3	2	0	0	3	3	6	3	4	1	1	1	2	1	1	5	0			TCGA-HC-8265-01A-11D-2260-08	TCGA-HC-8265-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d96380bd-80d2-4c64-ae3f-6f886936204e	ece936c5-0f53-4010-9e99-8091c679d15b	g.chr6:155131226C>G	ENST00000367178.3	+	12	1880	c.1304C>G	c.(1303-1305)tCa>tGa	p.S435*	SCAF8_ENST00000367186.4_Nonsense_Mutation_p.S501*|SCAF8_ENST00000417268.1_Nonsense_Mutation_p.S435*	NM_014892.3	NP_055707.3	Q9UPN6	SCAF8_HUMAN	SR-related CTD-associated factor 8	435	Arg-rich.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nuclear matrix (GO:0016363)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)|RNA polymerase core enzyme binding (GO:0043175)			breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(15)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	46						CGCTCCCGCTCAAGAGAAAGA	0.423																																						ENST00000367178.3																			0				breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(15)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	46						c.(1303-1305)tCa>tGa		SR-related CTD-associated factor 8							149	149	149					6																	155131226		2203	4300	6503	SO:0001587	stop_gained	22828				mRNA processing|RNA splicing	nuclear matrix|spliceosomal complex	nucleotide binding|RNA binding|RNA polymerase core enzyme binding	g.chr6:155131226C>G	AB029039	CCDS5247.1, CCDS69226.1, CCDS75541.1	6q25.1-q25.3	2013-02-12	2011-01-10	2011-01-10	ENSG00000213079	ENSG00000213079		"RNA binding motif (RRM) containing"	20959	protein-coding gene	gene with protein product			"RNA binding motif protein 16"	RBM16		10470851	Standard	NM_001286189		Approved	KIAA1116	uc003qpz.3	Q9UPN6	OTTHUMG00000015877	ENST00000367178.3:c.1304C>G	6.37:g.155131226C>G	ENSP00000356146:p.Ser435*					SCAF8_ENST00000417268.1_Nonsense_Mutation_p.S435*|SCAF8_ENST00000367186.4_Nonsense_Mutation_p.S501*	p.S435*	NM_014892.3	NP_055707.3	Q9UPN6	SCAF8_HUMAN			12	1880	+			435			Arg-rich.		B7Z888|Q5TBU6|Q6NSK3|Q9BQN8|Q9BX43	Nonsense_Mutation	SNP	ENST00000367178.3	37	c.1304C>G	CCDS5247.1	.	.	.	.	.	.	.	.	.	.	C	39	7.542895	0.98348	.	.	ENSG00000213079	ENST00000367178;ENST00000417268;ENST00000367186	.	.	.	5.88	5.88	0.94601	.	0.000000	0.64402	U	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	20.2381	0.98363	0.0:1.0:0.0:0.0	.	.	.	.	X	435;435;501	.	ENSP00000356146:S435X	S	+	2	0	SCAF8	155172918	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.779000	0.95612	0.650000	0.86243	TCA		0.423	SCAF8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042798.1	NM_014892		8	89	0	0	0	1	0	8	89					G	155131226	C	G	155131226	4	3	237	1	0	0	0	0	0	1	0	0	13118	838	29	5	1350	5	RBM16	6	155131226	Nonsense_Mutation	SNP	C	TCGA-HC-8265-01A-11D-2260-08	64767320	155131226	15983841	33	11037											
SNX13	23161	broad.mit.edu	37	chr7	17885263	17885263	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtctacaagaatgctgtccaGggggactgtgcaaagtttcc	10	10	12	9	0	1	1	0	0	1	1	3	2	3	2	2	2	3	3	2	2	4	2			TCGA-HC-8265-01A-11D-2260-08	TCGA-HC-8265-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d96380bd-80d2-4c64-ae3f-6f886936204e	ece936c5-0f53-4010-9e99-8091c679d15b	g.chr7:17885263G>A	ENST00000409389.1	-	12	1292	c.1120C>T	c.(1120-1122)Ctg>Ttg	p.L374L	SNX13_ENST00000428135.3_Silent_p.L374L			Q9Y5W8	SNX13_HUMAN	sorting nexin 13	374	RGS. {ECO:0000255|PROSITE- ProRule:PRU00171}.				intracellular protein transport (GO:0006886)|positive regulation of GTPase activity (GO:0043547)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	early endosome (GO:0005769)|membrane (GO:0016020)	phosphatidylinositol binding (GO:0035091)			breast(1)|central_nervous_system(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(13)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38	Lung NSC(10;0.0261)|all_lung(11;0.0521)					ATGCTGTCCAGGGGGACTGTG	0.323																																						ENST00000409389.1																			0				breast(1)|central_nervous_system(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(13)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38						c.(1120-1122)Ctg>Ttg		sorting nexin 13							44	44	44					7																	17885263		1806	4084	5890	SO:0001819	synonymous_variant	23161				cell communication|intracellular protein transport|negative regulation of signal transduction|positive regulation of GTPase activity	early endosome membrane	phosphatidylinositol binding|signal transducer activity	g.chr7:17885263G>A	AF420470	CCDS47551.1	7p21.1	2008-03-11			ENSG00000071189	ENSG00000071189		"Sorting nexins"	21335	protein-coding gene	gene with protein product		606589				11485546, 11729322	Standard	NM_015132		Approved	RGS-PX1, KIAA0713	uc003stv.3	Q9Y5W8	OTTHUMG00000152730	ENST00000409389.1:c.1120C>T	7.37:g.17885263G>A						SNX13_ENST00000428135.3_Silent_p.L374L	p.L374L			Q9Y5W8	SNX13_HUMAN			12	1292	-	Lung NSC(10;0.0261)|all_lung(11;0.0521)		374			RGS.		B2RCI9|O94821|Q8WVZ2|Q8WXH8	Silent	SNP	ENST00000409389.1	37	c.1120C>T																																																																																					0.323	SNX13-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000327608.1	NM_015132		4	12	0	0	0	1	0	4	12					A	17885263	G	A	17885263	2	1	237	1	0	0	0	0	0	0	0	1	14884	991	35	3		3	SNX13	7	17885263	Silent	SNP	G	TCGA-HC-8265-01A-11D-2260-08		17885263	141253400	34	11038											
PCLO	27445	broad.mit.edu	37	chr7	82545752	82545752	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cttggtcgctcaatgccatgCtgactttctattcgggttgg	5	15	11	10	2	2	1	1	1	1	0	4	1	2	1	1	3	2	3	1	3	2	5			TCGA-HC-8265-01A-11D-2260-08	TCGA-HC-8265-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d96380bd-80d2-4c64-ae3f-6f886936204e	ece936c5-0f53-4010-9e99-8091c679d15b	g.chr7:82545752C>T	ENST00000333891.9	-	7	11887	c.11550G>A	c.(11548-11550)caG>caA	p.Q3850Q	PCLO_ENST00000423517.2_Silent_p.Q3850Q|PCLO_ENST00000437081.1_Silent_p.Q570Q	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein											breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						CAATGCCATGCTGACTTTCTA	0.473																																						ENST00000423517.2																			0				breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						c.(11548-11550)caG>caA		piccolo presynaptic cytomatrix protein							328	318	321					7																	82545752		2035	4191	6226	SO:0001819	synonymous_variant	27445				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	g.chr7:82545752C>T	AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"aczonin"	604918	"piccolo (presynaptic cytomatrix protein)"			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.11550G>A	7.37:g.82545752C>T						PCLO_ENST00000437081.1_Silent_p.Q570Q|PCLO_ENST00000333891.8_Silent_p.Q3850Q	p.Q3850Q	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN			7	11887	-			3781			Gln-rich.			Silent	SNP	ENST00000333891.9	37	c.11550G>A	CCDS47630.1																																																																																				0.473	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510		14	293	0	0	0	1	0	14	293					T	82545752	C	T	82545752	2	4	237	1	0	0	0	0	0	0	0	1	11583	796	28	3		3	PCLO	7	82545752	Silent	SNP	C	TCGA-HC-8265-01A-11D-2260-08	64660489	82545752	76592911	35	11039											
MEPCE	56257	broad.mit.edu	37	chr7	100028454	100028454	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caccggggacagcaccaccaGcagcagcaggcagccggagg	11	0	15	15	2	0	0	0	0	0	0	0	2	0	2	4	5	5	5	4	5	0	0			TCGA-HC-8265-01A-11D-2260-08	TCGA-HC-8265-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d96380bd-80d2-4c64-ae3f-6f886936204e	ece936c5-0f53-4010-9e99-8091c679d15b	g.chr7:100028454G>C	ENST00000310512.2	+	1	1201	c.813G>C	c.(811-813)caG>caC	p.Q271H	MEPCE_ENST00000414441.1_5'UTR|ZCWPW1_ENST00000324725.6_5'Flank|ZCWPW1_ENST00000360951.4_5'Flank|ZCWPW1_ENST00000398027.2_5'Flank	NM_019606.5	NP_062552.2	Q7L2J0	MEPCE_HUMAN	methylphosphate capping enzyme	271					negative regulation of chromatin binding (GO:0035562)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|RNA methylation (GO:0001510)|snRNA metabolic process (GO:0016073)|snRNA modification (GO:0040031)		poly(A) RNA binding (GO:0044822)|RNA methyltransferase activity (GO:0008173)|S-adenosylmethionine-dependent methyltransferase activity (GO:0008757)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(2)|lung(9)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					AGCACCACCAGCAGCAGCAGG	0.647																																						ENST00000310512.2																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(2)|lung(9)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24						c.(811-813)caG>caC		methylphosphate capping enzyme							99	109	105					7																	100028454		2203	4300	6503	SO:0001583	missense	56257						methyltransferase activity	g.chr7:100028454G>C	AF264752	CCDS5693.1, CCDS55136.1	7q22.1	2008-02-04	2007-07-26	2007-07-26	ENSG00000146834	ENSG00000146834			20247	protein-coding gene	gene with protein product		611478	"bin3, bicoid-interacting 3, homolog (Drosophila)"	BCDIN3		12358911, 17643375	Standard	NM_019606		Approved	FLJ20257, MePCE	uc003uuw.3	Q7L2J0	OTTHUMG00000155255	ENST00000310512.2:c.813G>C	7.37:g.100028454G>C	ENSP00000308546:p.Gln271His					MEPCE_ENST00000414441.1_5'UTR	p.Q271H	NM_019606.5	NP_062552.2	Q7L2J0	MEPCE_HUMAN			1	1201	+	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		271					B3KP86|D6W5V7|Q9NPD4	Missense_Mutation	SNP	ENST00000310512.2	37	c.813G>C	CCDS5693.1	.	.	.	.	.	.	.	.	.	.	G	15.46	2.840902	0.51057	.	.	ENSG00000146834	ENST00000310512	.	.	.	4.62	2.81	0.32909	.	0.175162	0.36703	N	0.002459	T	0.22820	0.0551	N	0.22421	0.69	0.30375	N	0.782541	B	0.21225	0.053	B	0.14023	0.01	T	0.11470	-1.0586	9	0.24483	T	0.36	-0.6486	4.5225	0.11966	0.2002:0.1847:0.6151:0.0	.	271	Q7L2J0	MEPCE_HUMAN	H	271	.	ENSP00000308546:Q271H	Q	+	3	2	MEPCE	99866390	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	2.904000	0.48719	0.565000	0.29255	0.462000	0.41574	CAG		0.647	MEPCE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339135.1			5	228	0	0	0	1	0	5	228					C	100028454	G	C	100028454	3	2	237	1	0	0	0	0	1	0	0	0	9477	962	34	5	815	5	MEPCE	7	100028454	Missense_Mutation	SNP	G	TCGA-HC-8265-01A-11D-2260-08	17482702	100028454	59110209	36	11040											
MGAM	8972	broad.mit.edu	37	chr7	141765240	141765240	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgggagacaacacggccgcAtgggatcagctgaagaagtc	12	5	14	10	2	1	3	1	1	0	2	2	5	1	4	1	3	2	2	1	3	3	0	rs201340059		TCGA-HC-8265-01A-11D-2260-08	TCGA-HC-8265-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d96380bd-80d2-4c64-ae3f-6f886936204e	ece936c5-0f53-4010-9e99-8091c679d15b	g.chr7:141765240A>G	ENST00000549489.2	+	38	4685	c.4590A>G	c.(4588-4590)gcA>gcG	p.A1530A	MGAM_ENST00000475668.2_Silent_p.A1530A	NM_004668.2	NP_004659.2	O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	1530	Glucoamylase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	ACACGGCCGCATGGGATCAGC	0.612													N|||	1	0.000199681	0	0	5008	,	,		18970	0		0	False		,,,				2504	0.001					ENST00000475668.2																			0				cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13						c.(4588-4590)gcA>gcG		maltase-glucoamylase (alpha-glucosidase)	Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)						57	64	62					7																	141765240		2034	4186	6220	SO:0001819	synonymous_variant	8972				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity	g.chr7:141765240A>G	AF016833	CCDS47727.1	7q34	2012-10-03			ENSG00000257335	ENSG00000257335			7043	protein-coding gene	gene with protein product		154360				9446624	Standard	NM_004668		Approved	MGA	uc003vwy.3	O43451	OTTHUMG00000158395	ENST00000549489.2:c.4590A>G	7.37:g.141765240A>G						MGAM_ENST00000549489.2_Silent_p.A1530A	p.A1530A			O43451	MGA_HUMAN			38	4644	+	Melanoma(164;0.0272)		1530			Glucoamylase.		Q0VAX6|Q75ME7|Q86UM5	Silent	SNP	ENST00000549489.2	37	c.4590A>G	CCDS47727.1																																																																																				0.612	MGAM-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000351244.3			2	13	0	0	0	1	0	2	13					G	141765240	A	G	141765240	2	3	237	1	0	0	0	0	0	0	0	1	9541	204	8	4		4	MGAM	7	141765240	Silent	SNP	A	TCGA-HC-8265-01A-11D-2260-08	41736786	141765240	17373423	37	11041											
ZNF282	8427	broad.mit.edu	37	chr7	148921395	148921395	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgagaagagcttcaactgcCactcgggcctcatccgccac	9	6	10	16	3	2	2	2	0	0	2	4	3	3	2	4	1	3	1	4	1	2	1			TCGA-HC-8265-01A-11D-2260-08	TCGA-HC-8265-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d96380bd-80d2-4c64-ae3f-6f886936204e	ece936c5-0f53-4010-9e99-8091c679d15b	g.chr7:148921395C>T	ENST00000262085.3	+	8	1777	c.1672C>T	c.(1672-1674)Cac>Tac	p.H558Y	ZNF282_ENST00000479907.1_3'UTR	NM_003575.2	NP_003566.1	Q9UDV7	ZN282_HUMAN	zinc finger protein 282	558					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			endometrium(3)|large_intestine(3)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	17	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00171)	Lung(243;0.145)		CTTCAACTGCCACTCGGGCCT	0.632																																						ENST00000262085.3																			0				endometrium(3)|large_intestine(3)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	17						c.(1672-1674)Cac>Tac		zinc finger protein 282							28	30	30					7																	148921395		2202	4300	6502	SO:0001583	missense	8427				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:148921395C>T	D30612	CCDS5895.1	7q36.1	2013-01-08			ENSG00000170265	ENSG00000170265		"Zinc fingers, C2H2-type", "-"	13076	protein-coding gene	gene with protein product		603397				9396811	Standard	NM_003575		Approved	HUB1	uc003wfm.3	Q9UDV7	OTTHUMG00000158974	ENST00000262085.3:c.1672C>T	7.37:g.148921395C>T	ENSP00000262085:p.His558Tyr					ZNF282_ENST00000479907.1_3'UTR	p.H558Y	NM_003575.2	NP_003566.1	Q9UDV7	ZN282_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00171)	Lung(243;0.145)	8	1777	+	Melanoma(164;0.15)		558					B4DRI5|O43691|Q6DKK0	Missense_Mutation	SNP	ENST00000262085.3	37	c.1672C>T	CCDS5895.1	.	.	.	.	.	.	.	.	.	.	C	15.96	2.987214	0.53934	.	.	ENSG00000170265	ENST00000430197;ENST00000262085	T	0.00995	5.46	4.15	4.15	0.48705	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.150963	0.32015	N	0.006718	T	0.00637	0.0021	N	0.12182	0.205	0.80722	D	1	P	0.39282	0.666	B	0.31016	0.123	T	0.76955	-0.2767	10	0.54805	T	0.06	-13.2242	9.2227	0.37386	0.2161:0.7839:0.0:0.0	.	558	Q9UDV7	ZN282_HUMAN	Y	211;558	ENSP00000262085:H558Y	ENSP00000262085:H558Y	H	+	1	0	ZNF282	148552328	0.000000	0.05858	1.000000	0.80357	0.943000	0.58893	0.242000	0.18087	2.147000	0.66899	0.462000	0.41574	CAC		0.632	ZNF282-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352746.1	NM_003575		6	29	0	0	0	1	0	6	29					T	148921395	C	T	148921395	3	4	237	1	0	0	0	0	1	0	0	0	17816	594	21	3	1702	3	ZNF282	7	148921395	Missense_Mutation	SNP	C	TCGA-HC-8265-01A-11D-2260-08	7156155	148921395	10217268	38	11042											
TMEM176A	55365	broad.mit.edu	37	chr7	150500789	150500789	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tttggaatgaagatttccgaTatggctactcttattacaac	12	15	7	7	1	1	2	0	1	1	1	2	4	2	3	1	2	3	1	1	2	7	6			TCGA-HC-8265-01A-11D-2260-08	TCGA-HC-8265-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d96380bd-80d2-4c64-ae3f-6f886936204e	ece936c5-0f53-4010-9e99-8091c679d15b	g.chr7:150500789T>C	ENST00000484928.1	+	5	1005	c.424T>C	c.(424-426)Tat>Cat	p.Y142H	TMEM176A_ENST00000004103.3_Missense_Mutation_p.Y142H|TMEM176B_ENST00000447204.2_5'Flank|TMEM176A_ENST00000461345.1_Missense_Mutation_p.Y83H			Q96HP8	T176A_HUMAN	transmembrane protein 176A	142					negative regulation of dendritic cell differentiation (GO:2001199)	integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|lung(7)|ovary(2)|stomach(1)	12			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		AGATTTCCGATATGGCTACTC	0.552																																						ENST00000484928.1																			0				breast(1)|endometrium(1)|lung(7)|ovary(2)|stomach(1)	12						c.(424-426)Tat>Cat		transmembrane protein 176A							74	79	77					7																	150500789		2203	4300	6503	SO:0001583	missense	55365					integral to membrane		g.chr7:150500789T>C	AF258340	CCDS5909.1	7q36.1	2006-09-04			ENSG00000002933	ENSG00000002933			24930	protein-coding gene	gene with protein product		610334				12097419, 8889548	Standard	NM_018487		Approved	HCA112	uc003whx.1	Q96HP8	OTTHUMG00000158114	ENST00000484928.1:c.424T>C	7.37:g.150500789T>C	ENSP00000417626:p.Tyr142His					TMEM176A_ENST00000004103.3_Missense_Mutation_p.Y142H|TMEM176A_ENST00000461345.1_Missense_Mutation_p.Y83H	p.Y142H			Q96HP8	T176A_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	5	1005	+			142					D3DX00|Q9NYC7	Missense_Mutation	SNP	ENST00000484928.1	37	c.424T>C	CCDS5909.1	.	.	.	.	.	.	.	.	.	.	T	9.384	1.073662	0.20147	.	.	ENSG00000002933	ENST00000484928;ENST00000004103;ENST00000461345;ENST00000475536;ENST00000468689	T;T;T;T;T	0.48201	4.45;4.45;0.82;4.45;0.82	3.45	-6.9	0.01655	.	6.446740	0.00166	N	0.000005	T	0.34948	0.0915	L	0.50333	1.59	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.11941	-1.0567	10	0.48119	T	0.1	-10.4957	0.7736	0.01028	0.3083:0.1095:0.1747:0.4075	.	142	Q96HP8	T176A_HUMAN	H	142;142;83;94;83	ENSP00000417626:Y142H;ENSP00000004103:Y142H;ENSP00000420818:Y83H;ENSP00000417834:Y94H;ENSP00000420081:Y83H	ENSP00000004103:Y142H	Y	+	1	0	TMEM176A	150131722	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.863000	0.00725	-1.614000	0.01575	0.454000	0.30748	TAT		0.552	TMEM176A-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350222.1	NM_018487		8	130	0	0	0	1	0	8	130					C	150500789	T	C	150500789	3	2	237	1	0	0	0	0	1	0	0	0	16089	1406	49	4	438	4	TMEM176A	7	150500789	Missense_Mutation	SNP	T	TCGA-HC-8265-01A-11D-2260-08	1579394	150500789	8637874	39	11043											
POLR3D	661	broad.mit.edu	37	chr8	22105704	22105704	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggatgtgtcagacatgggAccttctcatatcatcaacat	11	12	9	9	0	4	1	4	0	1	1	5	3	4	3	1	2	1	0	1	2	2	2	rs200322424		TCGA-HC-8265-01A-11D-2260-08	TCGA-HC-8265-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d96380bd-80d2-4c64-ae3f-6f886936204e	ece936c5-0f53-4010-9e99-8091c679d15b	g.chr8:22105704A>G	ENST00000397802.4	+	4	614	c.399A>G	c.(397-399)ggA>ggG	p.G133G	POLR3D_ENST00000306433.4_Silent_p.G133G			P05423	RPC4_HUMAN	polymerase (RNA) III (DNA directed) polypeptide D, 44kDa	133					defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|positive regulation of innate immune response (GO:0045089)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of type I interferon production (GO:0032481)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase III promoter (GO:0006383)	cytosol (GO:0005829)|DNA-directed RNA polymerase III complex (GO:0005666)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(5)|prostate(1)|stomach(1)	13				Colorectal(74;0.0146)|COAD - Colon adenocarcinoma(73;0.061)		CAGACATGGGACCTTCTCATA	0.468																																						ENST00000397802.4																			0				central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(5)|prostate(1)|stomach(1)	13						c.(397-399)ggA>ggG		polymerase (RNA) III (DNA directed) polypeptide D, 44kDa							107	104	105					8																	22105704		2203	4300	6503	SO:0001819	synonymous_variant	661				innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	DNA-directed RNA polymerase III complex	DNA binding|DNA-directed RNA polymerase activity	g.chr8:22105704A>G	M17754	CCDS34858.1	8q21	2013-01-21	2003-04-01	2003-04-04	ENSG00000168495	ENSG00000168495		"RNA polymerase subunits"	1080	protein-coding gene	gene with protein product		187280	"BN51 (BHK21) temperature sensitivity complementing"	BN51T		12391170, 11279001	Standard	NM_001722		Approved	TSBN51, RPC4	uc003xbl.3	P05423	OTTHUMG00000163778	ENST00000397802.4:c.399A>G	8.37:g.22105704A>G						POLR3D_ENST00000306433.4_Silent_p.G133G	p.G133G			P05423	RPC4_HUMAN		Colorectal(74;0.0146)|COAD - Colon adenocarcinoma(73;0.061)	4	614	+			133					Q6FI28|Q9BPV7|Q9BPZ1|Q9BXB3	Silent	SNP	ENST00000397802.4	37	c.399A>G	CCDS34858.1																																																																																				0.468	POLR3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375434.2	NM_001722		7	34	0	0	0	1	0	7	34					G	22105704	A	G	22105704	2	3	237	1	0	0	0	0	0	0	0	1	12231	262	10	4		4	POLR3D	8	22105704	Silent	SNP	A	TCGA-HC-8265-01A-11D-2260-08		22105704	124258318	40	11044											
TCEA1	6917	broad.mit.edu	37	chr8	54900745	54900745	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aatcagaagtgcttggtgccCgaggaaaggatgaaacataa	16	7	12	6	1	1	2	1	1	0	1	1	5	1	4	1	3	3	1	1	3	5	2			TCGA-HC-8265-01A-11D-2260-08	TCGA-HC-8265-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d96380bd-80d2-4c64-ae3f-6f886936204e	ece936c5-0f53-4010-9e99-8091c679d15b	g.chr8:54900745C>T	ENST00000521604.2	-	5	798	c.395G>A	c.(394-396)cGg>cAg	p.R132Q	TCEA1_ENST00000522635.1_Intron|TCEA1_ENST00000396401.3_Missense_Mutation_p.R111Q|TCEA1_ENST00000521086.2_5'UTR	NM_006756.2	NP_006747.1	P23193	TCEA1_HUMAN	transcription elongation factor A (SII), 1	132					DNA repair (GO:0006281)|erythrocyte differentiation (GO:0030218)|gene expression (GO:0010467)|nucleotide-excision repair (GO:0006289)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of viral transcription (GO:0050434)|regulation of DNA-templated transcription, elongation (GO:0032784)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(1)|large_intestine(1)|lung(1)|skin(1)	4		Lung NSC(129;0.109)|all_epithelial(80;0.11)|all_lung(136;0.181)	OV - Ovarian serous cystadenocarcinoma(7;9.1e-07)|Epithelial(17;9.44e-05)|all cancers(17;0.000699)			GCTTGGTGCCCGAGGAAAGGA	0.468			T	PLAG1	salivary adenoma																																	ENST00000521604.2				Dom	yes		8	8q11.2	6917	T	"transcription elongation factor A (SII), 1"			E	PLAG1		salivary adenoma		0				breast(1)|large_intestine(1)|lung(1)|skin(1)	4						c.(394-396)cGg>cAg		transcription elongation factor A (SII), 1							93	92	93					8																	54900745		1983	4144	6127	SO:0001583	missense	6917				positive regulation of viral transcription|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription elongation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	nucleoplasm	DNA binding|translation elongation factor activity|zinc ion binding	g.chr8:54900745C>T	X62585	CCDS47857.1, CCDS47858.1	8q11.2	2011-01-25			ENSG00000187735	ENSG00000187735		"General transcription factors"	11612	protein-coding gene	gene with protein product		601425		TCEA, GTF2S		8812434, 8112616	Standard	NM_006756		Approved	SII, TF2S, TFIIS	uc003xru.3	P23193	OTTHUMG00000164262	ENST00000521604.2:c.395G>A	8.37:g.54900745C>T	ENSP00000428426:p.Arg132Gln					TCEA1_ENST00000396401.3_Missense_Mutation_p.R111Q|TCEA1_ENST00000522635.1_Intron|TCEA1_ENST00000521086.2_5'UTR	p.R132Q	NM_006756.2	NP_006747.1	P23193	TCEA1_HUMAN	OV - Ovarian serous cystadenocarcinoma(7;9.1e-07)|Epithelial(17;9.44e-05)|all cancers(17;0.000699)		5	798	-		Lung NSC(129;0.109)|all_epithelial(80;0.11)|all_lung(136;0.181)	132					A6NF25|A8K339|Q15563|Q6FG87	Missense_Mutation	SNP	ENST00000521604.2	37	c.395G>A	CCDS47858.1	.	.	.	.	.	.	.	.	.	.	C	15.00	2.701806	0.48307	.	.	ENSG00000187735	ENST00000396401;ENST00000521604	T;T	0.43294	0.95;0.95	5.63	5.63	0.86233	Transcription elongation factor S-II, central domain (2);	0.062092	0.64402	D	0.000004	T	0.31670	0.0804	N	0.19112	0.55	0.80722	D	1	B;B	0.20988	0.05;0.003	B;B	0.15870	0.014;0.002	T	0.06516	-1.0822	10	0.20519	T	0.43	-0.078	20.0368	0.97565	0.0:1.0:0.0:0.0	.	111;132	P23193-2;P23193	.;TCEA1_HUMAN	Q	111;132	ENSP00000395483:R111Q;ENSP00000428426:R132Q	ENSP00000395483:R111Q	R	-	2	0	TCEA1	55063298	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.443000	0.59994	2.818000	0.97014	0.591000	0.81541	CGG		0.468	TCEA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377975.2	NM_006756		7	22	0	0	0	1	0	7	22					T	54900745	C	T	54900745	3	4	237	1	0	0	0	0	1	0	0	0	15664	652	23	2	534	2	TCEA1	8	54900745	Missense_Mutation	SNP	C	TCGA-HC-8265-01A-11D-2260-08	32795041	54900745	91463277	41	11045											
GDAP1	54332	broad.mit.edu	37	chr8	75276269	75276269	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaatccttcaccctggcagaCgtctcactcgctgtcacatt	8	11	7	15	2	3	1	3	0	1	1	6	2	4	1	2	1	0	2	2	1	1	2	rs370099528		TCGA-HC-8265-01A-11D-2260-08	TCGA-HC-8265-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d96380bd-80d2-4c64-ae3f-6f886936204e	ece936c5-0f53-4010-9e99-8091c679d15b	g.chr8:75276269C>T	ENST00000220822.7	+	6	824	c.744C>T	c.(742-744)gaC>gaT	p.D248D	GDAP1_ENST00000434412.2_Silent_p.D180D|GDAP1_ENST00000521096.1_3'UTR	NM_001040875.2|NM_018972.2	NP_001035808.1|NP_061845.2	Q8TB36	GDAP1_HUMAN	ganglioside induced differentiation associated protein 1	248	GST C-terminal.				cell death (GO:0008219)|mitochondrial fission (GO:0000266)|protein targeting to mitochondrion (GO:0006626)|response to retinoic acid (GO:0032526)	integral component of mitochondrial outer membrane (GO:0031307)|membrane (GO:0016020)|nucleus (GO:0005634)				endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	10	Breast(64;0.00769)	Myeloproliferative disorder(644;0.0122)	BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.104)|all cancers(69;0.234)			CCCTGGCAGACGTCTCACTCG	0.502																																						ENST00000220822.7																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	10						c.(742-744)gaC>gaT		ganglioside induced differentiation associated protein 1		C	,	0,4406		0,0,2203	66	64	64		540,744	1.9	1	8		64	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	GDAP1	NM_001040875.1,NM_018972.2	,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,	180/291,248/359	75276269	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	54332					cytoplasm		g.chr8:75276269C>T		CCDS34911.1, CCDS47877.1	8q13.3	2014-09-17	2012-02-09						15968	protein-coding gene	gene with protein product		606598	"Charcot-Marie-Tooth neuropathy 4A"	CMT4A		8268915, 11743579	Standard	NM_018972		Approved	CMT4	uc003yah.3	Q8TB36		ENST00000220822.7:c.744C>T	8.37:g.75276269C>T						GDAP1_ENST00000521096.1_3'UTR|GDAP1_ENST00000434412.2_Silent_p.D180D	p.D248D	NM_001040875.2|NM_018972.2	NP_001035808.1|NP_061845.2	Q8TB36	GDAP1_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.104)|all cancers(69;0.234)		6	824	+	Breast(64;0.00769)	Myeloproliferative disorder(644;0.0122)	248			GST C-terminal.		A8K957|E7FJF3|E7FJF4	Silent	SNP	ENST00000220822.7	37	c.744C>T	CCDS34911.1																																																																																				0.502	GDAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379061.1	NM_018972		4	38	0	0	0	1	0	4	38					T	75276269	C	T	75276269	2	4	237	1	0	0	0	0	0	0	0	1	6307	535	19	1		1	GDAP1	8	75276269	Silent	SNP	C	TCGA-HC-8265-01A-11D-2260-08	20375524	75276269	71087753	42	11046											
ZFHX4	79776	broad.mit.edu	37	chr8	77775621	77775621	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aaaagaggaaaaaatctcatCtgctctttcagtgttgggca	14	11	9	7	0	4	1	2	0	3	1	5	2	4	2	0	2	1	3	0	2	5	2			TCGA-HC-8265-01A-11D-2260-08	TCGA-HC-8265-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d96380bd-80d2-4c64-ae3f-6f886936204e	ece936c5-0f53-4010-9e99-8091c679d15b	g.chr8:77775621C>G	ENST00000521891.2	+	11	10119	c.9671C>G	c.(9670-9672)tCt>tGt	p.S3224C	ZFHX4_ENST00000518282.1_Missense_Mutation_p.S3198C|ZFHX4_ENST00000455469.2_Missense_Mutation_p.S3179C|ZFHX4_ENST00000050961.6_Missense_Mutation_p.S3175C	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	3175					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			AAAATCTCATCTGCTCTTTCA	0.413										HNSCC(33;0.089)																												ENST00000521891.2																			0				NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432						c.(9670-9672)tCt>tGt		zinc finger homeobox 4							144	138	140					8																	77775621		1877	4114	5991	SO:0001583	missense	79776					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:77775621C>G		CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"Homeoboxes / ZF class"	30939	protein-coding gene	gene with protein product		606940	"zinc finger homeodomain 4"			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.9671C>G	8.37:g.77775621C>G	ENSP00000430497:p.Ser3224Cys	HNSCC(33;0.089)				ZFHX4_ENST00000455469.2_Missense_Mutation_p.S3179C|ZFHX4_ENST00000518282.1_Missense_Mutation_p.S3198C|ZFHX4_ENST00000050961.6_Missense_Mutation_p.S3175C	p.S3224C	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.0895)		11	10119	+			3175					G3V138|Q18PS0|Q6ZN20	Missense_Mutation	SNP	ENST00000521891.2	37	c.9671C>G	CCDS47878.2	.	.	.	.	.	.	.	.	.	.	C	11.43	1.637021	0.29157	.	.	ENSG00000091656	ENST00000521891;ENST00000399468;ENST00000455469;ENST00000050961;ENST00000518282	T;T;T;T	0.52526	0.66;0.71;0.69;0.69	4.71	4.71	0.59529	.	0.000000	0.42172	U	0.000743	T	0.62756	0.2454	L	0.50333	1.59	0.41027	D	0.985126	D	0.62365	0.991	D	0.64506	0.926	T	0.65533	-0.6145	10	0.62326	D	0.03	.	18.2095	0.89865	0.0:1.0:0.0:0.0	.	3179	Q86UP3-4	.	C	3224;3208;3179;3175;3198	ENSP00000430497:S3224C;ENSP00000399605:S3179C;ENSP00000050961:S3175C;ENSP00000430848:S3198C	ENSP00000050961:S3175C	S	+	2	0	ZFHX4	77938176	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.301000	0.72782	2.601000	0.87937	0.561000	0.74099	TCT		0.413	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	NM_024721		3	88	0	0	0	1	0	3	88					G	77775621	C	G	77775621	3	3	237	1	0	0	0	0	1	0	0	0	17632	913	32	5	9709	5	ZFHX4	8	77775621	Missense_Mutation	SNP	C	TCGA-HC-8265-01A-11D-2260-08	2499352	77775621	68588401	43	11047											
CHRAC1	54108	broad.mit.edu	37	chr8	141525311	141525311	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aagatgaggagaatgacaatGataatgaaagtgaccatgat	19	8	11	3	0	0	8	0	6	0	2	0	9	0	8	1	1	0	0	1	1	5	1			TCGA-HC-8265-01A-11D-2260-08	TCGA-HC-8265-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d96380bd-80d2-4c64-ae3f-6f886936204e	ece936c5-0f53-4010-9e99-8091c679d15b	g.chr8:141525311G>C	ENST00000220913.5	+	3	563	c.361G>C	c.(361-363)Gat>Cat	p.D121H	CHRAC1_ENST00000519533.1_3'UTR	NM_017444.5	NP_059140.1	Q9NRG0	CHRC1_HUMAN	chromatin accessibility complex 1	121					chromatin remodeling (GO:0006338)|DNA-dependent DNA replication (GO:0006261)	CHRAC (GO:0008623)|epsilon DNA polymerase complex (GO:0008622)	DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|sequence-specific DNA binding (GO:0043565)			ovary(2)	2	all_cancers(97;5.52e-16)|all_epithelial(106;1.22e-13)|Lung NSC(106;4.09e-06)|all_lung(105;6e-06)|Ovarian(258;0.0154)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.107)			GAATGACAATGATAATGAAAG	0.383																																						ENST00000220913.5																			0				ovary(2)	2						c.(361-363)Gat>Cat		chromatin accessibility complex 1							117	112	114					8																	141525311		2203	4300	6503	SO:0001583	missense	54108				chromatin remodeling	chromatin accessibility complex|epsilon DNA polymerase complex	DNA-directed DNA polymerase activity|sequence-specific DNA binding	g.chr8:141525311G>C	AF226076	CCDS6379.1	8q24.3	2008-08-07				ENSG00000104472			13544	protein-coding gene	gene with protein product	"histone-fold protein CHRAC15"	607268				10880450, 11000277	Standard	NM_017444		Approved	CHRAC15, YCL1	uc003yvl.3	Q9NRG0		ENST00000220913.5:c.361G>C	8.37:g.141525311G>C	ENSP00000220913:p.Asp121His					CHRAC1_ENST00000519533.1_3'UTR	p.D121H	NM_017444.5	NP_059140.1	Q9NRG0	CHRC1_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.107)		3	563	+	all_cancers(97;5.52e-16)|all_epithelial(106;1.22e-13)|Lung NSC(106;4.09e-06)|all_lung(105;6e-06)|Ovarian(258;0.0154)|Acute lymphoblastic leukemia(118;0.155)		121						Missense_Mutation	SNP	ENST00000220913.5	37	c.361G>C	CCDS6379.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.66|12.66	2.004967|2.004967	0.35415|0.35415	.|.	.|.	ENSG00000104472|ENSG00000104472	ENST00000220913|ENST00000519618	T|.	0.34859|.	1.34|.	4.16|4.16	-0.753|-0.753	0.11068|0.11068	.|.	0.533626|.	0.16770|.	N|.	0.200249|.	T|T	0.24699|0.24699	0.0599|0.0599	N|N	0.08118|0.08118	0|0	0.09310|0.09310	N|N	0.999998|0.999998	B|.	0.34015|.	0.435|.	B|.	0.29440|.	0.102|.	T|T	0.21518|0.21518	-1.0243|-1.0243	10|5	0.45353|.	T|.	0.12|.	-1.5442|-1.5442	14.751|14.751	0.69525|0.69525	0.1142:0.0:0.8858:0.0|0.1142:0.0:0.8858:0.0	.|.	121|.	Q9NRG0|.	CHRC1_HUMAN|.	H|I	121|86	ENSP00000220913:D121H|.	ENSP00000220913:D121H|.	D|M	+|+	1|3	0|0	CHRAC1|CHRAC1	141594493|141594493	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.248000|0.248000	0.25809|0.25809	0.681000|0.681000	0.25320|0.25320	-0.048000|-0.048000	0.13401|0.13401	0.563000|0.563000	0.77884|0.77884	GAT|ATG		0.383	CHRAC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377816.1	NM_017444		7	67	0	0	0	1	0	7	67					C	141525311	G	C	141525311	3	2	237	1	0	0	0	0	1	0	0	0	3371	1290	45	5	371	5	CHRAC1	8	141525311	Missense_Mutation	SNP	G	TCGA-HC-8265-01A-11D-2260-08	63749690	141525311	4838711	44	11048											
MLLT3	4300	broad.mit.edu	37	chr9	20414337	20414337	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgctgctgctgctgctgctGctgctactgctgctgctgct	1	14	12	14	0	0	0	0	0	0	0	0	0	0	0	0	0	13	12	0	0	1	1			TCGA-HC-8265-01A-11D-2260-08	TCGA-HC-8265-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d96380bd-80d2-4c64-ae3f-6f886936204e	ece936c5-0f53-4010-9e99-8091c679d15b	g.chr9:20414337G>A	ENST00000380338.4	-	5	793	c.507C>T	c.(505-507)agC>agT	p.S169S	MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S166S	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	169	Poly-Ser.				anterior/posterior pattern specification (GO:0009952)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|regulation of transcription, DNA-templated (GO:0006355)|segment specification (GO:0007379)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)				central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		tgctgctgctgctgctactgc	0.542			T	MLL	ALL																																	ENST00000380338.4				Dom	yes		9	9p22	4300	T	"myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 (AF9)"			L	MLL		ALL		0				central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66						c.(505-507)agC>agT		myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3							9	16	14					9																	20414337		1704	3497	5201	SO:0001819	synonymous_variant	4300				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	g.chr9:20414337G>A	L13744	CCDS6494.1	9p22	2008-02-05	2001-11-28		ENSG00000171843	ENSG00000171843			7136	protein-coding gene	gene with protein product		159558	"myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 3"			8506309, 8414510	Standard	NM_001286691		Approved	AF-9, AF9, YEATS3	uc003zoe.2	P42568	OTTHUMG00000019650	ENST00000380338.4:c.507C>T	9.37:g.20414337G>A						MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S166S	p.S169S	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN		GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)	5	793	-			169			Poly-Ser.		B1AMQ2|B2R7B3|B7Z755|D3DRJ8|Q8IVB0	Silent	SNP	ENST00000380338.4	37	c.507C>T	CCDS6494.1																																																																																				0.542	MLLT3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051872.1	NM_004529		3	40	0	0	0	1	0	3	40					A	20414337	G	A	20414337	2	1	237	1	0	0	0	0	0	0	0	1	9628	1310	46	3		3	MLLT3	9	20414337	Silent	SNP	G	TCGA-HC-8265-01A-11D-2260-08		20414337	120799094	45	11049											
TMC1	117531	broad.mit.edu	37	chr9	75445550	75445550	+	Missense_Mutation	SNP	G	G	C																															tattttttattgtgtagcaaGctttggagaacaaaatgcga																										TCGA-HC-8265-01A-11D-2260-08	TCGA-HC-8265-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d96380bd-80d2-4c64-ae3f-6f886936204e	ece936c5-0f53-4010-9e99-8091c679d15b	g.chr9:75445550G>C	ENST00000297784.5	+	23	2752	c.2212G>C	c.(2212-2214)Gct>Cct	p.A738P	TMC1_ENST00000396237.3_Missense_Mutation_p.A738P|TMC1_ENST00000486417.1_3'UTR|TMC1_ENST00000340019.3_Missense_Mutation_p.A738P	NM_138691.2	NP_619636.2	Q8TDI8	TMC1_HUMAN	transmembrane channel-like 1	738					auditory receptor cell development (GO:0060117)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|vestibular reflex (GO:0060005)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|stereocilium bundle tip (GO:0032426)	voltage-gated calcium channel activity (GO:0005245)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(21)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	36						TGTGTAGCAAGCTTTGGAGAA	0.303																																					Pancreas(75;173 1345 14232 34245 43413)	ENST00000297784.5																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(21)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	36						c.(2212-2214)Gct>Cct		transmembrane channel-like 1							74	82	79					9																	75445550		2203	4300	6503	SO:0001583	missense	117531				sensory perception of sound	integral to membrane		g.chr9:75445550G>C	AF417578	CCDS6643.1	9q21	2014-01-28			ENSG00000165091	ENSG00000165091			16513	protein-coding gene	gene with protein product		606706	"transmembrane, cochlear expressed, 1"	DFNA36, DFNB7, DFNB11		11850618, 11850623	Standard	NM_138691		Approved		uc004aiz.1	Q8TDI8	OTTHUMG00000020014	ENST00000297784.5:c.2212G>C	9.37:g.75445550G>C	ENSP00000297784:p.Ala738Pro					TMC1_ENST00000396237.3_Missense_Mutation_p.A738P|TMC1_ENST00000340019.3_Missense_Mutation_p.A738P|TMC1_ENST00000486417.1_3'UTR	p.A738P	NM_138691.2	NP_619636.2	Q8TDI8	TMC1_HUMAN			23	2752	+			738					A8MVZ2|B1AM91	Missense_Mutation	SNP	ENST00000297784.5	37	c.2212G>C	CCDS6643.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.288461	0.80914	.	.	ENSG00000165091	ENST00000297784;ENST00000340019;ENST00000537917;ENST00000542143;ENST00000396237	T;T;T	0.68479	-0.33;-0.33;-0.33	5.07	5.07	0.68467	.	0.272217	0.35040	N	0.003494	T	0.61299	0.2336	N	0.22421	0.69	0.40134	D	0.976752	D	0.62365	0.991	P	0.48873	0.593	T	0.61836	-0.6981	10	0.34782	T	0.22	-4.7216	17.9798	0.89137	0.0:0.0:1.0:0.0	.	738	Q8TDI8	TMC1_HUMAN	P	738;738;705;732;738	ENSP00000297784:A738P;ENSP00000341433:A738P;ENSP00000379538:A738P	ENSP00000297784:A738P	A	+	1	0	TMC1	74635370	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	6.197000	0.72100	2.790000	0.95986	0.650000	0.86243	GCT		0.303	TMC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052655.1			6	15	0	0	0	1	0	6	15					C	75445550	G	C	75445550	3	2	237	1	0	0	0	0	1	0	0	0	15981	971	34	5	2286	5	TMC1	9	75445550	Missense_Mutation	SNP	G	TCGA-HC-8265-01A-11D-2260-08	55031213	75445550	65767881	46	11050	59	2									
TMC1	117531	broad.mit.edu	37	chr9	75445552	75445552	+	Silent	SNP	T	T	G																															ttttttattgtgtagcaagcTttggagaacaaaatgcgaaa																								rs111387206		TCGA-HC-8265-01A-11D-2260-08	TCGA-HC-8265-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d96380bd-80d2-4c64-ae3f-6f886936204e	ece936c5-0f53-4010-9e99-8091c679d15b	g.chr9:75445552T>G	ENST00000297784.5	+	23	2754	c.2214T>G	c.(2212-2214)gcT>gcG	p.A738A	TMC1_ENST00000396237.3_Silent_p.A738A|TMC1_ENST00000486417.1_3'UTR|TMC1_ENST00000340019.3_Silent_p.A738A	NM_138691.2	NP_619636.2	Q8TDI8	TMC1_HUMAN	transmembrane channel-like 1	738					auditory receptor cell development (GO:0060117)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|vestibular reflex (GO:0060005)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|stereocilium bundle tip (GO:0032426)	voltage-gated calcium channel activity (GO:0005245)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(21)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	36						TGTAGCAAGCTTTGGAGAACA	0.299																																					Pancreas(75;173 1345 14232 34245 43413)	ENST00000297784.5																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(21)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	36						c.(2212-2214)gcT>gcG		transmembrane channel-like 1							73	82	79					9																	75445552		2203	4300	6503	SO:0001819	synonymous_variant	117531				sensory perception of sound	integral to membrane		g.chr9:75445552T>G	AF417578	CCDS6643.1	9q21	2014-01-28			ENSG00000165091	ENSG00000165091			16513	protein-coding gene	gene with protein product		606706	"transmembrane, cochlear expressed, 1"	DFNA36, DFNB7, DFNB11		11850618, 11850623	Standard	NM_138691		Approved		uc004aiz.1	Q8TDI8	OTTHUMG00000020014	ENST00000297784.5:c.2214T>G	9.37:g.75445552T>G						TMC1_ENST00000396237.3_Silent_p.A738A|TMC1_ENST00000340019.3_Silent_p.A738A|TMC1_ENST00000486417.1_3'UTR	p.A738A	NM_138691.2	NP_619636.2	Q8TDI8	TMC1_HUMAN			23	2754	+			738					A8MVZ2|B1AM91	Silent	SNP	ENST00000297784.5	37	c.2214T>G	CCDS6643.1																																																																																				0.299	TMC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052655.1			6	15	0	0	0	1	0	6	15					G	75445552	T	G	75445552	2	3	237	1	0	0	0	0	0	0	0	1	15981	1596	56	5		5	TMC1	9	75445552	Silent	SNP	T	TCGA-HC-8265-01A-11D-2260-08	2	75445552	65767879	47	11051	59	2									
ARPC5L	81873	broad.mit.edu	37	chr9	127637421	127637421	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	agcgcagtgttactccagtgGcacgaaaaggtatgtgaacg	12	8	13	8	3	0	1	0	1	0	0	1	2	1	1	1	2	3	4	1	2	5	2			TCGA-HC-8265-01A-11D-2260-08	TCGA-HC-8265-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d96380bd-80d2-4c64-ae3f-6f886936204e	ece936c5-0f53-4010-9e99-8091c679d15b	g.chr9:127637421G>C	ENST00000353214.2	+	5	1642	c.390G>C	c.(388-390)tgG>tgC	p.W130C	ARPC5L_ENST00000259477.6_Missense_Mutation_p.W130C|ARPC5L_ENST00000465124.1_3'UTR			Q9BPX5	ARP5L_HUMAN	actin related protein 2/3 complex, subunit 5-like	130					regulation of actin filament polymerization (GO:0030833)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)				large_intestine(2)|lung(1)	3						TACTCCAGTGGCACGAAAAGG	0.507																																						ENST00000353214.2																			0				large_intestine(2)|lung(1)	3						c.(388-390)tgG>tgC		actin related protein 2/3 complex, subunit 5-like							71	72	72					9																	127637421		2203	4300	6503	SO:0001583	missense	81873				regulation of actin filament polymerization	cytoplasm|cytoskeleton	actin binding	g.chr9:127637421G>C	AF087842	CCDS6859.1	9q34.11	2011-07-06			ENSG00000136950	ENSG00000136950		"Actin related protein 2/3 complex subunits"	23366	protein-coding gene	gene with protein product							Standard	NM_030978		Approved	MGC3038, ARC16-2	uc004bpa.4	Q9BPX5	OTTHUMG00000020660	ENST00000353214.2:c.390G>C	9.37:g.127637421G>C	ENSP00000345361:p.Trp130Cys					ARPC5L_ENST00000465124.1_3'UTR|ARPC5L_ENST00000259477.6_Missense_Mutation_p.W130C	p.W130C			Q9BPX5	ARP5L_HUMAN			5	1642	+			130					Q7Z523	Missense_Mutation	SNP	ENST00000353214.2	37	c.390G>C	CCDS6859.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.044860	0.75732	.	.	ENSG00000136950	ENST00000353214;ENST00000259477	.	.	.	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	D	0.87545	0.6204	M	0.94142	3.5	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.998;1.0	D	0.90351	0.4366	9	0.87932	D	0	-13.2393	18.9755	0.92735	0.0:0.0:1.0:0.0	.	130;130	B3KPC7;Q9BPX5	.;ARP5L_HUMAN	C	130	.	ENSP00000259477:W130C	W	+	3	0	ARPC5L	126677242	1.000000	0.71417	1.000000	0.80357	0.494000	0.33585	9.790000	0.99075	2.732000	0.93576	0.655000	0.94253	TGG		0.507	ARPC5L-002	KNOWN	non_canonical_polymorphism|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054041.1	NM_030978		8	48	0	0	0	1	0	8	48					C	127637421	G	C	127637421	3	2	237	1	0	0	0	0	1	0	0	0	975	1212	42	5	400	5	ARPC5L	9	127637421	Missense_Mutation	SNP	G	TCGA-HC-8265-01A-11D-2260-08	52191869	127637421	13576010	48	11052											
SLC2A8	29988	broad.mit.edu	37	chr9	130167705	130167705	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tctcgctcccacaggctttgCggtgggctgggggcccatcc	3	9	14	15	2	1	0	0	0	1	0	4	0	3	0	3	5	1	3	3	5	0	1	rs200900591		TCGA-HC-8265-01A-11D-2260-08	TCGA-HC-8265-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d96380bd-80d2-4c64-ae3f-6f886936204e	ece936c5-0f53-4010-9e99-8091c679d15b	g.chr9:130167705C>T	ENST00000373371.3	+	9	1246	c.1157C>T	c.(1156-1158)gCg>gTg	p.A386V	SLC2A8_ENST00000485806.1_3'UTR|SLC2A8_ENST00000373360.3_Intron|SLC2A8_ENST00000373352.1_Missense_Mutation_p.A123V	NM_001271712.1|NM_014580.3	NP_001258641.1|NP_055395.2	Q9NY64	GTR8_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 8	386					carbohydrate metabolic process (GO:0005975)|glucose transport (GO:0015758)|insulin receptor signaling pathway (GO:0008286)|male meiosis I (GO:0007141)|response to hypoxia (GO:0001666)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	glucose binding (GO:0005536)|glucose transmembrane transporter activity (GO:0005355)			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)	11						ACAGGCTTTGCGGTGGGCTGG	0.642																																						ENST00000373371.3																			0				cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)	11						c.(1156-1158)gCg>gTg		solute carrier family 2 (facilitated glucose transporter), member 8		C	VAL/ALA	0,4406		0,0,2203	57	54	55		1157	5.3	0.6	9		55	2,8598	2.2+/-6.3	0,2,4298	yes	missense	SLC2A8	NM_014580.3	64	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	probably-damaging	386/478	130167705	2,13004	2203	4300	6503	SO:0001583	missense	29988					cytoplasmic vesicle membrane|integral to plasma membrane	D-glucose transmembrane transporter activity	g.chr9:130167705C>T	AJ245937	CCDS6870.1, CCDS65138.1, CCDS75903.1	9q33.3	2013-05-22	2008-09-02		ENSG00000136856	ENSG00000136856		"Solute carriers"	13812	protein-coding gene	gene with protein product		605245	"solute carrier family 2 (facilitated glucose transporter) member 8"			10671487, 10821868	Standard	NM_014580		Approved	GLUTX1, GLUT8	uc004bqu.4	Q9NY64	OTTHUMG00000020702	ENST00000373371.3:c.1157C>T	9.37:g.130167705C>T	ENSP00000362469:p.Ala386Val					SLC2A8_ENST00000485806.1_3'UTR|SLC2A8_ENST00000373352.1_Missense_Mutation_p.A123V|SLC2A8_ENST00000373360.3_Intron	p.A386V	NM_001271712.1|NM_014580.3	NP_001258641.1|NP_055395.2	Q9NY64	GTR8_HUMAN			9	1246	+			386					Q8WUZ9|Q9NSC4	Missense_Mutation	SNP	ENST00000373371.3	37	c.1157C>T	CCDS6870.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.121198	0.77436	0.0	2.33E-4	ENSG00000136856	ENST00000373371;ENST00000451404;ENST00000373352;ENST00000439597;ENST00000423934;ENST00000373350;ENST00000430147	T;D;D;D;D;D	0.81821	0.21;-1.54;-1.54;-1.54;-1.54;-1.54	5.35	5.35	0.76521	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.098719	0.64402	D	0.000001	D	0.91570	0.7337	M	0.89785	3.06	0.80722	D	1	D	0.89917	1.0	D	0.72075	0.976	D	0.92858	0.6303	10	0.72032	D	0.01	.	18.1845	0.89789	0.0:1.0:0.0:0.0	.	386	Q9NY64	GTR8_HUMAN	V	386;223;123;225;251;251;225	ENSP00000362469:A386V;ENSP00000392434:A223V;ENSP00000362450:A123V;ENSP00000404893:A225V;ENSP00000389070:A251V;ENSP00000391213:A225V	ENSP00000362448:A251V	A	+	2	0	SLC2A8	129207526	1.000000	0.71417	0.627000	0.29227	0.198000	0.23893	7.426000	0.80270	2.674000	0.91012	0.655000	0.94253	GCG		0.642	SLC2A8-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054177.1	NM_014580		3	62	0	0	0	1	0	3	62					T	130167705	C	T	130167705	3	4	237	1	0	0	0	0	1	0	0	0	14551	768	27	1	1191	1	SLC2A8	9	130167705	Missense_Mutation	SNP	C	TCGA-HC-8265-01A-11D-2260-08	2530284	130167705	11045726	49	11053											
PCDH15	65217	broad.mit.edu	37	chr10	55566503	55566503	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tttcagcctgttccttagtgGcttcaccgctgtattgtcag	5	16	9	11	1	3	0	3	0	0	0	4	0	4	0	3	1	1	4	3	1	2	6			TCGA-HC-8265-01A-11D-2260-08	TCGA-HC-8265-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d96380bd-80d2-4c64-ae3f-6f886936204e	ece936c5-0f53-4010-9e99-8091c679d15b	g.chr10:55566503G>T	ENST00000373965.2	-	36	5285	c.4891C>A	c.(4891-4893)Cca>Aca	p.P1631T	PCDH15_ENST00000414778.1_Missense_Mutation_p.P1628T	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	0					equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	calcium ion binding (GO:0005509)			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				TTCCTTAGTGGCTTCACCGCT	0.448										HNSCC(58;0.16)																												ENST00000373965.2																			0				NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237						c.(4891-4893)Cca>Aca		protocadherin-related 15							338	291	305					10																	55566503		1568	3582	5150	SO:0001583	missense	65217				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding	g.chr10:55566503G>T	AY029205	CCDS7248.1, CCDS44400.1, CCDS44401.1, CCDS44403.1, CCDS44404.1, CCDS73134.1, CCDS73135.1, CCDS73136.1, CCDS73137.1, CCDS73138.1	10q21.1	2013-01-08	2010-01-25		ENSG00000150275	ENSG00000150275		"Cadherins / Cadherin-related"	14674	protein-coding gene	gene with protein product	"cadherin-related family member 15"	605514	"deafness, autosomal recessive 23", "protocadherin 15"	USH1F, DFNB23		11398101, 14570705	Standard	NM_033056		Approved	CDHR15	uc010qhy.1	Q96QU1	OTTHUMG00000018259	ENST00000373965.2:c.4891C>A	10.37:g.55566503G>T	ENSP00000363076:p.Pro1631Thr	HNSCC(58;0.16)				PCDH15_ENST00000414778.1_Missense_Mutation_p.P1628T	p.P1631T	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN			36	5285	-		Melanoma(3;0.117)|Lung SC(717;0.238)	0					A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Missense_Mutation	SNP	ENST00000373965.2	37	c.4891C>A		.	.	.	.	.	.	.	.	.	.	G	3.798	-0.042345	0.07452	.	.	ENSG00000150275	ENST00000373965;ENST00000414778;ENST00000455746	T;T	0.56611	0.45;0.49	6.02	-4.45	0.03546	.	.	.	.	.	T	0.34948	0.0915	L	0.33485	1.01	0.09310	N	0.999999	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.16453	-1.0402	9	0.31617	T	0.26	.	7.8866	0.29653	0.4063:0.0:0.4351:0.1586	.	1622;1628	C6ZEF7;C9J4F3	.;.	T	1631;1628;1624	ENSP00000363076:P1631T;ENSP00000410304:P1628T	ENSP00000363076:P1631T	P	-	1	0	PCDH15	55236509	0.005000	0.15991	0.000000	0.03702	0.003000	0.03518	-0.140000	0.10342	-1.298000	0.02348	-0.808000	0.03180	CCA		0.448	PCDH15-008	NOVEL	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000291336.1	NM_033056		87	196	1	0	2.18537e-64	1	2.56961e-64	87	196					T	55566503	G	T	55566503	3	4	237	1	0	0	0	0	1	0	0	0	11511	1203	42	5	167	5	PCDH15	10	55566503	Missense_Mutation	SNP	G	TCGA-HC-8265-01A-11D-2260-08		55566503	79968244	50	11054											
DDIT4	54541	broad.mit.edu	37	chr10	74034783	74034783	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttccagctgaccctcgtgcTgcgcctggactcacgactct	5	10	9	17	3	2	1	1	1	1	0	4	3	3	2	3	1	3	2	3	1	0	1			TCGA-HC-8265-01A-11D-2260-08	TCGA-HC-8265-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d96380bd-80d2-4c64-ae3f-6f886936204e	ece936c5-0f53-4010-9e99-8091c679d15b	g.chr10:74034783T>A	ENST00000307365.3	+	3	737	c.536T>A	c.(535-537)cTg>cAg	p.L179Q	RP11-442H21.2_ENST00000491934.2_RNA	NM_019058.2	NP_061931.1	Q9NX09	DDIT4_HUMAN	DNA-damage-inducible transcript 4	179					brain development (GO:0007420)|cell proliferation (GO:0008283)|defense response to virus (GO:0051607)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|negative regulation of glycolytic process (GO:0045820)|negative regulation of intracellular signal transduction (GO:1902532)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|negative regulation of TOR signaling (GO:0032007)|neuron differentiation (GO:0030182)|neuron migration (GO:0001764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of neuron death (GO:1901216)|protein complex disassembly (GO:0043241)|reactive oxygen species metabolic process (GO:0072593)|response to hypoxia (GO:0001666)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|mitochondrion (GO:0005739)				cervix(1)|endometrium(2)|lung(5)|pancreas(1)|prostate(2)|urinary_tract(1)	12						ACCCTCGTGCTGCGCCTGGAC	0.657											OREG0020262	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000307365.3																			0				cervix(1)|endometrium(2)|lung(5)|pancreas(1)|prostate(2)|urinary_tract(1)	12						c.(535-537)cTg>cAg		DNA-damage-inducible transcript 4							27	29	28					10																	74034783		2203	4300	6503	SO:0001583	missense	54541				apoptosis			g.chr10:74034783T>A	AK000507	CCDS7315.1	10q22.1	2008-05-14			ENSG00000168209	ENSG00000168209			24944	protein-coding gene	gene with protein product	"HIF-1 responsive RTP801"	607729				11884613	Standard	NM_019058		Approved	RTP801, FLJ20500, REDD-1, REDD1, Dig2	uc001jsx.1	Q9NX09	OTTHUMG00000018435	ENST00000307365.3:c.536T>A	10.37:g.74034783T>A	ENSP00000307305:p.Leu179Gln		OREG0020262	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1149	RP11-442H21.2_ENST00000491934.2_RNA	p.L179Q	NM_019058.2	NP_061931.1	Q9NX09	DDIT4_HUMAN			3	737	+			179					Q9H0S3	Missense_Mutation	SNP	ENST00000307365.3	37	c.536T>A	CCDS7315.1	.	.	.	.	.	.	.	.	.	.	T	25.8	4.674364	0.88445	.	.	ENSG00000168209	ENST00000307365	T	0.60171	0.21	5.21	5.21	0.72293	.	0.000000	0.64402	D	0.000001	T	0.75649	0.3878	M	0.74258	2.255	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.79327	-0.1849	10	0.87932	D	0	-12.8105	15.1019	0.72284	0.0:0.0:0.0:1.0	.	179	Q9NX09	DDIT4_HUMAN	Q	179	ENSP00000307305:L179Q	ENSP00000307305:L179Q	L	+	2	0	DDIT4	73704789	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.596000	0.82721	1.960000	0.56953	0.460000	0.39030	CTG		0.657	DDIT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048577.1	NM_019058		6	31	0	0	0	1	0	6	31					A	74034783	T	A	74034783	3	1	237	1	0	0	0	0	1	0	0	0	4331	1580	55	5	542	5	DDIT4	10	74034783	Missense_Mutation	SNP	T	TCGA-HC-8265-01A-11D-2260-08	18468280	74034783	61499964	51	11055											
DLG5	9231	broad.mit.edu	37	chr10	79571786	79571786	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atgagccgcgcctgctgctcCgtggcgctccgcaggtttat	4	10	13	14	5	0	1	0	1	0	0	2	1	2	1	4	2	3	5	4	2	1	2			TCGA-HC-8265-01A-11D-2260-08	TCGA-HC-8265-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d96380bd-80d2-4c64-ae3f-6f886936204e	ece936c5-0f53-4010-9e99-8091c679d15b	g.chr10:79571786C>T	ENST00000372391.2	-	22	4223	c.4218G>A	c.(4216-4218)acG>acA	p.T1406T	DLG5_ENST00000372388.2_Silent_p.T1066T|DLG5_ENST00000459739.1_5'UTR	NM_004747.3	NP_004738.3	Q8TDM6	DLG5_HUMAN	discs, large homolog 5 (Drosophila)	1406	PDZ 3. {ECO:0000255|PROSITE- ProRule:PRU00143}.				apical protein localization (GO:0045176)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|intracellular signal transduction (GO:0035556)|metanephric collecting duct development (GO:0072205)|midbrain development (GO:0030901)|negative regulation of cell proliferation (GO:0008285)|polarized epithelial cell differentiation (GO:0030859)|protein complex assembly (GO:0006461)|protein localization to adherens junction (GO:0071896)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|zonula adherens assembly (GO:0045186)	cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|cytoskeletal protein binding (GO:0008092)|receptor signaling complex scaffold activity (GO:0030159)			breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	60	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)			CCTGCTGCTCCGTGGCGCTCC	0.652																																						ENST00000372391.2																			0				breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	60						c.(4216-4218)acG>acA		discs, large homolog 5 (Drosophila)							85	70	75					10																	79571786		2203	4300	6503	SO:0001819	synonymous_variant	9231				cell-cell adhesion|intracellular signal transduction|negative regulation of cell proliferation|regulation of apoptosis	cell junction|cytoplasm	beta-catenin binding|cytoskeletal protein binding|receptor signaling complex scaffold activity	g.chr10:79571786C>T	U61843	CCDS7353.2	10q23	2008-07-09	2001-11-28		ENSG00000151208	ENSG00000151208			2904	protein-coding gene	gene with protein product		604090	"discs, large (Drosophila) homolog 5"			9738934	Standard	XM_005270276		Approved	P-dlg, KIAA0583	uc001jzk.3	Q8TDM6	OTTHUMG00000018548	ENST00000372391.2:c.4218G>A	10.37:g.79571786C>T						DLG5_ENST00000459739.1_5'UTR|DLG5_ENST00000372388.2_Silent_p.T1066T	p.T1406T	NM_004747.3	NP_004738.3	Q8TDM6	DLG5_HUMAN	Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)		22	4223	-	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		1406			PDZ 3.		A6H8Y3|Q149N1|Q5T1H7|Q5T1H8|Q6DKG3|Q86WC0|Q8TDM7|Q9UE73|Q9Y4E3	Silent	SNP	ENST00000372391.2	37	c.4218G>A	CCDS7353.2																																																																																				0.652	DLG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048900.2			6	105	0	0	0	1	0	6	105					T	79571786	C	T	79571786	2	4	237	1	0	0	0	0	0	0	0	1	4558	639	23	2		2	DLG5	10	79571786	Silent	SNP	C	TCGA-HC-8265-01A-11D-2260-08	5537003	79571786	55962961	52	11056											
MRVI1	10335	broad.mit.edu	37	chr11	10647847	10647847	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	catcctgggttggacttctcGgcagagggctgccctcccag	5	9	13	14	1	1	1	0	0	1	1	4	2	3	2	3	4	1	3	3	4	0	2	rs371956442		TCGA-HC-8265-01A-11D-2260-08	TCGA-HC-8265-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d96380bd-80d2-4c64-ae3f-6f886936204e	ece936c5-0f53-4010-9e99-8091c679d15b	g.chr11:10647847G>A	ENST00000436272.1	-	8	1031	c.953C>T	c.(952-954)cCg>cTg	p.P318L	MRVI1_ENST00000527509.2_Missense_Mutation_p.P254L|MRVI1_ENST00000423302.2_Missense_Mutation_p.P345L|MRVI1_ENST00000424001.1_Missense_Mutation_p.P30L|MRVI1_ENST00000534266.2_Missense_Mutation_p.P30L|MRVI1_ENST00000531107.1_Missense_Mutation_p.P337L|MRVI1_ENST00000541483.1_Intron|MRVI1_ENST00000545852.1_Missense_Mutation_p.P30L|MRVI1_ENST00000552103.1_Missense_Mutation_p.P254L|MRVI1_ENST00000547195.1_Missense_Mutation_p.P254L|MRVI1_ENST00000421747.1_Missense_Mutation_p.P336L|MRVI1_ENST00000558540.1_Missense_Mutation_p.P30L			Q9Y6F6	MRVI1_HUMAN	murine retrovirus integration site 1 homolog	318					blood coagulation (GO:0007596)|cGMP-mediated signaling (GO:0019934)|relaxation of vascular smooth muscle (GO:0060087)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|platelet dense tubular network membrane (GO:0031095)|sarcoplasmic reticulum (GO:0016529)				central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(2)	22				all cancers(16;2.68e-07)|Epithelial(150;3.04e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0723)		TGGACTTCTCGGCAGAGGGCT	0.672																																						ENST00000547195.1																			0				central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(2)	22						c.(760-762)cCg>cTg		murine retrovirus integration site 1 homolog		G	LEU/PRO,LEU/PRO,LEU/PRO,,LEU/PRO,LEU/PRO	1,3745		0,1,1872	29	30	30		1010,761,89,,89,1034	0.8	0.5	11		30	3,8193		0,3,4095	no	missense,missense,missense,intron,missense,missense	MRVI1	NM_001098579.2,NM_001100163.2,NM_001100167.2,NM_001206880.1,NM_001206881.1,NM_130385.3	98,98,98,,98,98	0,4,5967	AA,AG,GG		0.0366,0.0267,0.0335	benign,benign,benign,,benign,benign	337/905,254/822,30/598,,30/598,345/913	10647847	4,11938	1873	4098	5971	SO:0001583	missense	10335				platelet activation	endoplasmic reticulum membrane|integral to membrane|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum		g.chr11:10647847G>A	AF081249	CCDS44538.1, CCDS44539.1, CCDS44540.1, CCDS44538.2, CCDS55745.1, CCDS55746.1	11p15.4	2014-09-11			ENSG00000072952	ENSG00000072952			7237	protein-coding gene	gene with protein product	"inositol 1,4,5-triphosphate-associated cGMP kinase substrate", "IP3R-associated cGMP kinase substrate"	604673				10321731	Standard	NM_001098579		Approved	JAW1L, IRAG	uc010rcb.1	Q9Y6F6	OTTHUMG00000165773	ENST00000436272.1:c.953C>T	11.37:g.10647847G>A	ENSP00000412229:p.Pro318Leu					MRVI1_ENST00000423302.2_Missense_Mutation_p.P345L|MRVI1_ENST00000527509.2_Missense_Mutation_p.P254L|MRVI1_ENST00000424001.1_Missense_Mutation_p.P30L|MRVI1_ENST00000531107.1_Missense_Mutation_p.P337L|MRVI1_ENST00000421747.1_Missense_Mutation_p.P336L|MRVI1_ENST00000436272.1_Missense_Mutation_p.P318L|MRVI1_ENST00000558540.1_Missense_Mutation_p.P30L|MRVI1_ENST00000534266.2_Missense_Mutation_p.P30L|MRVI1_ENST00000545852.1_Missense_Mutation_p.P30L|MRVI1_ENST00000552103.1_Missense_Mutation_p.P254L|MRVI1_ENST00000541483.1_Intron	p.P254L	NM_001100163.2|NM_001206881.1	NP_001093633.1|NP_001193810.1	Q9Y6F6	MRVI1_HUMAN		all cancers(16;2.68e-07)|Epithelial(150;3.04e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0723)	8	1261	-			318					B7Z3T4|B7Z6I2|B7Z9A3|E9PQY6|F5H6A1|J3KQZ7|Q17S00|Q9UNY1	Missense_Mutation	SNP	ENST00000436272.1	37	c.761C>T		.	.	.	.	.	.	.	.	.	.	G	6.989	0.552578	0.13374	2.67E-4	3.66E-4	ENSG00000072952	ENST00000421747;ENST00000308763;ENST00000436272;ENST00000547195;ENST00000552103;ENST00000545852;ENST00000424001;ENST00000423302;ENST00000531107;ENST00000527509	T;T;T;T;T;T;T;T;T	0.14766	2.48;2.48;2.48;2.48;2.48;2.48;2.48;2.48;2.48	5.41	0.829	0.18847	.	0.368334	0.28724	N	0.014357	T	0.05914	0.0154	N	0.16478	0.41	0.23198	N	0.998132	B;B;B	0.14012	0.009;0.009;0.007	B;B;B	0.10450	0.005;0.005;0.003	T	0.26950	-1.0088	10	0.36615	T	0.2	-1.8315	0.5497	0.00660	0.3819:0.1752:0.2647:0.1782	.	318;337;336	Q9Y6F6;E9PQY6;Q9Y6F6-4	MRVI1_HUMAN;.;.	L	336;319;318;254;254;30;30;345;337;254	ENSP00000414598:P336L;ENSP00000412229:P318L;ENSP00000448278:P254L;ENSP00000446764:P254L;ENSP00000441971:P30L;ENSP00000401205:P30L;ENSP00000412130:P345L;ENSP00000432436:P337L;ENSP00000432067:P254L	ENSP00000307885:P319L	P	-	2	0	MRVI1	10604423	0.770000	0.28543	0.532000	0.27989	0.341000	0.28922	1.234000	0.32660	0.337000	0.23665	-0.990000	0.02549	CCG		0.672	MRVI1-203	KNOWN	basic	protein_coding	protein_coding		NM_001098579		7	12	0	0	0	1	0	7	12					A	10647847	G	A	10647847	3	1	237	1	0	0	0	0	1	0	0	0	9853	1116	39	2	1756	2	MRVI1	11	10647847	Missense_Mutation	SNP	G	TCGA-HC-8265-01A-11D-2260-08		10647847	124358669	53	11057											
OR4C3	256144	broad.mit.edu	37	chr11	48346690	48346690	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatgtggtcacggtttgtggCaacatgctcattgtggtcac	7	14	12	8	1	3	0	3	0	0	0	3	0	3	0	0	4	2	3	0	4	2	3			TCGA-HC-8265-01A-11D-2260-08	TCGA-HC-8265-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d96380bd-80d2-4c64-ae3f-6f886936204e	ece936c5-0f53-4010-9e99-8091c679d15b	g.chr11:48346690C>A	ENST00000319856.4	+	1	219	c.198C>A	c.(196-198)ggC>ggA	p.G66G		NM_001004702.1	NP_001004702.1	Q8NH37	OR4C3_HUMAN	olfactory receptor, family 4, subfamily C, member 3	39						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	32						CGGTTTGTGGCAACATGCTCA	0.453																																						ENST00000319856.4																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	32						c.(196-198)ggC>ggA		olfactory receptor, family 4, subfamily C, member 3							160	133	143					11																	48346690		2201	4298	6499	SO:0001819	synonymous_variant	256144				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:48346690C>A	AB065567	CCDS31489.1	11p11.2	2012-08-09				ENSG00000176547		"GPCR / Class A : Olfactory receptors"	14697	protein-coding gene	gene with protein product							Standard	NM_001004702		Approved		uc010rhv.2	Q8NH37	OTTHUMG00000166579	ENST00000319856.4:c.198C>A	11.37:g.48346690C>A							p.G66G	NM_001004702.1	NP_001004702.1	Q8NH37	OR4C3_HUMAN			1	219	+			39					B2RNF2|Q6IFB3	Silent	SNP	ENST00000319856.4	37	c.198C>A	CCDS31489.1																																																																																				0.453	OR4C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390557.1	NM_001004702		3	67	1	0	2.0095e-06	1	2.23975e-06	3	67					A	48346690	C	A	48346690	2	1	237	1	0	0	0	0	0	0	0	1	11050	697	25	5		5	OR4C3	11	48346690	Silent	SNP	C	TCGA-HC-8265-01A-11D-2260-08	37698843	48346690	86659826	54	11058											
DDI1	414301	broad.mit.edu	37	chr11	103907873	103907873	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctgggacgtccagctcccGtccacagcaccctggacagc	7	5	11	18	2	0	0	0	0	0	0	3	2	3	2	5	2	3	2	5	2	0	0	rs138983347		TCGA-HC-8265-01A-11D-2260-08	TCGA-HC-8265-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d96380bd-80d2-4c64-ae3f-6f886936204e	ece936c5-0f53-4010-9e99-8091c679d15b	g.chr11:103907873G>A	ENST00000302259.3	+	1	566	c.323G>A	c.(322-324)cGt>cAt	p.R108H	PDGFD_ENST00000393158.2_Intron|PDGFD_ENST00000302251.5_Intron	NM_001001711.2	NP_001001711.1	Q8WTU0	DDI1_HUMAN	DNA-damage inducible 1 homolog 1 (S. cerevisiae)	108							aspartic-type endopeptidase activity (GO:0004190)			central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(12)|liver(2)|lung(21)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00648)|Melanoma(852;0.055)|all_neural(303;0.164)		BRCA - Breast invasive adenocarcinoma(274;0.00128)|Epithelial(105;0.0631)|all cancers(92;0.169)		TCCAGCTCCCGTCCACAGCAC	0.672																																						ENST00000302259.3																			0				central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(12)|liver(2)|lung(21)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						c.(322-324)cGt>cAt		DNA-damage inducible 1 homolog 1 (S. cerevisiae)		G	HIS/ARG,,	1,4403	2.1+/-5.4	0,1,2201	89	89	89		323,,	3.2	0.2	11	dbSNP_134	89	1,8597	1.2+/-3.3	0,1,4298	no	missense,intron,intron	PDGFD,DDI1	NM_001001711.2,NM_025208.4,NM_033135.3	29,,	0,2,6499	AA,AG,GG		0.0116,0.0227,0.0154	possibly-damaging,,	108/397,,	103907873	2,13000	2202	4299	6501	SO:0001583	missense	414301				proteolysis		aspartic-type endopeptidase activity	g.chr11:103907873G>A		CCDS31660.1	11q22.3	2010-05-04	2010-05-04			ENSG00000170967			18961	protein-coding gene	gene with protein product			"DDI1, DNA-damage inducible 1, homolog 1 (S. cerevisiae)"				Standard	NM_001001711		Approved	FLJ36017	uc001phr.2	Q8WTU0		ENST00000302259.3:c.323G>A	11.37:g.103907873G>A	ENSP00000302805:p.Arg108His					PDGFD_ENST00000302251.5_Intron|PDGFD_ENST00000393158.2_Intron	p.R108H	NM_001001711.2	NP_001001711.1	Q8WTU0	DDI1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.00128)|Epithelial(105;0.0631)|all cancers(92;0.169)	1	566	+		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00648)|Melanoma(852;0.055)|all_neural(303;0.164)	108					Q7Z4U6|Q8WTS3	Missense_Mutation	SNP	ENST00000302259.3	37	c.323G>A	CCDS31660.1	.	.	.	.	.	.	.	.	.	.	G	14.39	2.521366	0.44866	2.27E-4	1.16E-4	ENSG00000170967	ENST00000302259	T	0.24908	1.83	5.02	3.16	0.36331	.	0.791492	0.11533	N	0.554491	T	0.26557	0.0649	M	0.65975	2.015	0.09310	N	1	D	0.60160	0.987	B	0.39660	0.306	T	0.14420	-1.0473	10	0.52906	T	0.07	-9.7142	9.7218	0.40308	0.1699:0.0:0.8301:0.0	.	108	Q8WTU0	DDI1_HUMAN	H	108	ENSP00000302805:R108H	ENSP00000302805:R108H	R	+	2	0	DDI1	103413083	0.319000	0.24607	0.156000	0.22583	0.007000	0.05969	1.378000	0.34328	0.836000	0.34901	-0.150000	0.13652	CGT		0.672	DDI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387326.1	NM_001001711		31	67	0	0	0	1	0	31	67					A	103907873	G	A	103907873	3	1	237	1	0	0	0	0	1	0	0	0	4328	1145	40	1	325	1	DDI1	11	103907873	Missense_Mutation	SNP	G	TCGA-HC-8265-01A-11D-2260-08	55561183	103907873	31098643	55	11059											
CACNA1C	775	broad.mit.edu	37	chr12	2764406	2764406	+	Splice_Site	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgtgctgctcctcttcaggTgggtccctgaagacataggt	6	11	12	12	1	2	2	1	1	1	1	4	2	4	2	3	3	2	2	3	3	2	2			TCGA-HC-8265-01A-11D-2260-08	TCGA-HC-8265-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d96380bd-80d2-4c64-ae3f-6f886936204e	ece936c5-0f53-4010-9e99-8091c679d15b	g.chr12:2764406T>G	ENST00000347598.4	+	36	4376		c.e36+2		CACNA1C_ENST00000399601.1_Splice_Site|CACNA1C_ENST00000399606.1_Splice_Site|CACNA1C_ENST00000399591.1_Splice_Site|CACNA1C_ENST00000335762.5_Splice_Site|CACNA1C_ENST00000399595.1_Splice_Site|CACNA1C_ENST00000399617.1_Splice_Site|CACNA1C_ENST00000399637.1_Splice_Site|CACNA1C_ENST00000399597.1_Splice_Site|CACNA1C_ENST00000327702.7_Splice_Site|CACNA1C_ENST00000399641.1_Splice_Site|CACNA1C_ENST00000399655.1_Splice_Site|CACNA1C_ENST00000399644.1_Splice_Site|CACNA1C_ENST00000344100.3_Splice_Site|CACNA1C_ENST00000399621.1_Splice_Site|CACNA1C_ENST00000399603.1_Splice_Site|CACNA1C_ENST00000406454.3_Splice_Site|CACNA1C_ENST00000399638.1_Splice_Site|CACNA1C_ENST00000402845.3_Splice_Site|CACNA1C_ENST00000399629.1_Splice_Site|CACNA1C_ENST00000399634.1_Splice_Site|CACNA1C_ENST00000399649.1_Splice_Site	NM_001129827.1|NM_199460.2	NP_001123299.1|NP_955630.2	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit						adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport into cytosol (GO:0060402)|calcium ion-dependent exocytosis (GO:0017156)|calcium-mediated signaling using extracellular calcium source (GO:0035585)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|energy reserve metabolic process (GO:0006112)|glucose homeostasis (GO:0042593)|growth hormone secretion (GO:0030252)|insulin secretion (GO:0030073)|membrane depolarization during action potential (GO:0086010)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of insulin secretion (GO:0050796)|regulation of organ growth (GO:0046620)|regulation of vasoconstriction (GO:0019229)|small molecule metabolic process (GO:0044281)|smooth muscle contraction involved in micturition (GO:0060083)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	caveolar macromolecular signaling complex (GO:0002095)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|calmodulin binding (GO:0005516)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Drotaverine(DB06751)|Felodipine(DB01023)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	CCTCTTCAGGTGGGTCCCTGA	0.537																																						ENST00000399655.1																			0				NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132						c.e34+2		calcium channel, voltage-dependent, L type, alpha 1C subunit	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)						73	76	75					12																	2764406		2127	4266	6393	SO:0001630	splice_region_variant	775				axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity	g.chr12:2764406T>G	AF070589	CCDS44787.1, CCDS44788.1, CCDS44789.1, CCDS44790.1, CCDS44791.1, CCDS44792.1, CCDS44793.1, CCDS44794.1, CCDS44795.1, CCDS44796.1, CCDS44797.1, CCDS44798.1, CCDS44799.1, CCDS44800.1, CCDS44801.1, CCDS53733.1, CCDS53734.1, CCDS53735.1, CCDS53736.1	12p13.3	2014-09-17			ENSG00000151067	ENSG00000151067		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1390	protein-coding gene	gene with protein product		114205		CCHL1A1, CACNL1A1		1650913, 16382099	Standard	NM_001129832		Approved	Cav1.2, CACH2, CACN2, TS, LQT8	uc001qjy.3	Q13936	OTTHUMG00000150243	ENST00000347598.4:c.4376+2T>G	12.37:g.2764406T>G						CACNA1C_ENST00000399649.1_Splice_Site|CACNA1C_ENST00000399641.1_Splice_Site|CACNA1C_ENST00000399644.1_Splice_Site|CACNA1C_ENST00000399595.1_Splice_Site|CACNA1C_ENST00000399638.1_Splice_Site|CACNA1C_ENST00000399603.1_Splice_Site|CACNA1C_ENST00000399601.1_Splice_Site|CACNA1C_ENST00000399591.1_Splice_Site|CACNA1C_ENST00000335762.5_Splice_Site|CACNA1C_ENST00000399617.1_Splice_Site|CACNA1C_ENST00000344100.3_Splice_Site|CACNA1C_ENST00000399637.1_Splice_Site|CACNA1C_ENST00000402845.3_Splice_Site|CACNA1C_ENST00000399629.1_Splice_Site|CACNA1C_ENST00000347598.4_Splice_Site|CACNA1C_ENST00000399621.1_Splice_Site|CACNA1C_ENST00000399634.1_Splice_Site|CACNA1C_ENST00000327702.7_Splice_Site|CACNA1C_ENST00000406454.3_Splice_Site|CACNA1C_ENST00000399597.1_Splice_Site|CACNA1C_ENST00000399606.1_Splice_Site		NM_000719.6|NM_001129829.1|NM_001129834.1	NP_000710.5|NP_001123301.1|NP_001123306.1	Q13936	CAC1C_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	34	4497	+								B2RUT3|E9PDJ0|Q13917|Q13918|Q13919|Q13920|Q13921|Q13922|Q13923|Q13924|Q13925|Q13926|Q13927|Q13928|Q13929|Q13930|Q13932|Q13933|Q14743|Q14744|Q15877|Q4VMI7|Q4VMI8|Q4VMI9|Q6PKM7|Q8N6C0|Q99025|Q99241|Q99875	Splice_Site	SNP	ENST00000347598.4	37		CCDS44788.1	.	.	.	.	.	.	.	.	.	.	T	19.26	3.793218	0.70452	.	.	ENSG00000151067	ENST00000335762;ENST00000399655;ENST00000399644;ENST00000399638;ENST00000399597;ENST00000399621;ENST00000399637;ENST00000399591;ENST00000399641;ENST00000347598;ENST00000399606;ENST00000399601;ENST00000344100;ENST00000399629;ENST00000327702;ENST00000399649;ENST00000402845;ENST00000399603;ENST00000399634;ENST00000399617;ENST00000406454;ENST00000399595;ENST00000322367	.	.	.	3.96	3.96	0.45880	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.3114	0.60382	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	CACNA1C	2634667	1.000000	0.71417	1.000000	0.80357	0.934000	0.57294	7.730000	0.84881	1.780000	0.52325	0.459000	0.35465	.		0.537	CACNA1C-017	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317035.1	NM_000719	Intron	2	13	0	0	0	1	0	2	13					G	2764406	T	G	2764406	5	3	237	1	0	0	0	0	0	0	1	0	2540	1710	59	5	4694	5	CACNA1C	12	2764406	Splice_Site	SNP	T	TCGA-HC-8265-01A-11D-2260-08		2764406	131087489	56	11060											
ADAMTS20	80070	broad.mit.edu	37	chr12	43896163	43896163	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cattaagatcttcattcatgTtgctgtaggtatgaaagggt	11	15	10	5	0	3	2	2	1	1	1	3	2	3	2	0	2	1	4	0	2	4	6			TCGA-HC-8265-01A-11D-2260-08	TCGA-HC-8265-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d96380bd-80d2-4c64-ae3f-6f886936204e	ece936c5-0f53-4010-9e99-8091c679d15b	g.chr12:43896163T>C	ENST00000389420.3	-	4	658	c.659A>G	c.(658-660)aAc>aGc	p.N220S	ADAMTS20_ENST00000553158.1_Missense_Mutation_p.N220S	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	220					extracellular matrix organization (GO:0030198)|negative regulation of apoptotic process (GO:0043066)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of signal transduction (GO:0009967)	extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		TTCATTCATGTTGCTGTAGGT	0.323																																						ENST00000389420.3																			0				breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						c.(658-660)aAc>aGc		ADAM metallopeptidase with thrombospondin type 1 motif, 20							155	169	164					12																	43896163		2203	4298	6501	SO:0001583	missense	80070					proteinaceous extracellular matrix	zinc ion binding	g.chr12:43896163T>C	AF488804	CCDS31778.2	12q12	2005-08-19	2005-08-19			ENSG00000173157		"ADAM metallopeptidases with thrombospondin type 1 motif"	17178	protein-coding gene	gene with protein product		611681	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 20"			12514189, 12562771	Standard	NM_025003		Approved	GON-1	uc010skx.2	P59510		ENST00000389420.3:c.659A>G	12.37:g.43896163T>C	ENSP00000374071:p.Asn220Ser					ADAMTS20_ENST00000553158.1_Missense_Mutation_p.N220S	p.N220S	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN		GBM - Glioblastoma multiforme(48;0.0473)	4	658	-	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)	220					A6NNC9|J3QT00	Missense_Mutation	SNP	ENST00000389420.3	37	c.659A>G	CCDS31778.2	.	.	.	.	.	.	.	.	.	.	T	0.027	-1.358738	0.01245	.	.	ENSG00000173157	ENST00000389420;ENST00000553158;ENST00000389417	T;T	0.60548	0.36;0.18	4.66	0.563	0.17296	.	0.442698	0.20661	N	0.088021	T	0.27866	0.0686	N	0.14661	0.345	0.19300	N	0.999977	B	0.06786	0.001	B	0.09377	0.004	T	0.16482	-1.0401	10	0.06365	T	0.9	.	3.6728	0.08280	0.0:0.4121:0.2166:0.3713	.	220	P59510	ATS20_HUMAN	S	220	ENSP00000374071:N220S;ENSP00000448341:N220S	ENSP00000374068:N220S	N	-	2	0	ADAMTS20	42182430	0.019000	0.18553	0.004000	0.12327	0.159000	0.22180	-0.036000	0.12185	0.244000	0.21351	0.533000	0.62120	AAC		0.323	ADAMTS20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403643.1	NM_025003		6	60	0	0	0	1	0	6	60					C	43896163	T	C	43896163	3	2	237	1	0	0	0	0	1	0	0	0	266	1725	60	4	5216	4	ADAMTS20	12	43896163	Missense_Mutation	SNP	T	TCGA-HC-8265-01A-11D-2260-08	41131757	43896163	89955732	57	11061											
C1QL4	338761	broad.mit.edu	37	chr12	49729849	49729849	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccgctggctgcctcgtaggCgttgcccacgttggtcacca	4	9	13	15	4	1	0	1	0	0	0	2	0	1	0	4	3	2	5	4	3	1	3			TCGA-HC-8265-01A-11D-2260-08	TCGA-HC-8265-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d96380bd-80d2-4c64-ae3f-6f886936204e	ece936c5-0f53-4010-9e99-8091c679d15b	g.chr12:49729849C>T	ENST00000334221.3	-	1	1122	c.412G>A	c.(412-414)Gcc>Acc	p.A138T		NM_001008223.1	NP_001008224.1	Q86Z23	C1QL4_HUMAN	complement component 1, q subcomponent-like 4	138	C1q. {ECO:0000255|PROSITE- ProRule:PRU00368}.					collagen trimer (GO:0005581)|extracellular region (GO:0005576)				large_intestine(2)|lung(1)|ovary(1)|skin(1)	5						GCCTCGTAGGCGTTGCCCACG	0.652																																						ENST00000334221.3																			0				large_intestine(2)|lung(1)|ovary(1)|skin(1)	5						c.(412-414)Gcc>Acc		complement component 1, q subcomponent-like 4							33	32	32					12																	49729849		2203	4300	6503	SO:0001583	missense	338761					collagen		g.chr12:49729849C>T		CCDS31793.1	12q13.12	2012-04-12				ENSG00000186897			31416	protein-coding gene	gene with protein product		615229					Standard	NM_001008223		Approved	C1QTNF11, CTRP11	uc001rtz.1	Q86Z23	OTTHUMG00000169515	ENST00000334221.3:c.412G>A	12.37:g.49729849C>T	ENSP00000335285:p.Ala138Thr						p.A138T	NM_001008223.1	NP_001008224.1	Q86Z23	C1QL4_HUMAN			1	1122	-			138			C1q.			Missense_Mutation	SNP	ENST00000334221.3	37	c.412G>A	CCDS31793.1	.	.	.	.	.	.	.	.	.	.	C	17.96	3.515592	0.64634	.	.	ENSG00000186897	ENST00000334221	T	0.76448	-1.02	5.61	4.71	0.59529	Tumour necrosis factor-like (2);Complement C1q protein (4);	0.289868	0.27340	N	0.019817	T	0.71099	0.3300	L	0.51914	1.62	0.31339	N	0.683835	P	0.51147	0.942	B	0.40199	0.322	T	0.76121	-0.3075	10	0.52906	T	0.07	.	12.2046	0.54345	0.4222:0.5778:0.0:0.0	.	138	Q86Z23	C1QL4_HUMAN	T	138	ENSP00000335285:A138T	ENSP00000335285:A138T	A	-	1	0	C1QL4	48016116	0.974000	0.33945	0.799000	0.32177	0.828000	0.46876	0.267000	0.18552	1.367000	0.46095	0.655000	0.94253	GCC		0.652	C1QL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404561.1	NM_001008223		10	14	0	0	0	1	0	10	14					T	49729849	C	T	49729849	3	4	237	1	0	0	0	0	1	0	0	0	1961	768	27	1	312	1	C1QL4	12	49729849	Missense_Mutation	SNP	C	TCGA-HC-8265-01A-11D-2260-08	5833686	49729849	84122046	58	11062											
R3HDM2	22864	broad.mit.edu	37	chr12	57674222	57674222	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agttgctgctgctgctgctgCtgttgctgctgggcagtaca	4	13	14	10	0	0	0	0	0	0	0	0	0	0	0	0	1	9	12	0	1	1	3			TCGA-HC-8265-01A-11D-2260-08	TCGA-HC-8265-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d96380bd-80d2-4c64-ae3f-6f886936204e	ece936c5-0f53-4010-9e99-8091c679d15b	g.chr12:57674222C>T	ENST00000347140.3	-	14	1611	c.1221G>A	c.(1219-1221)caG>caA	p.Q407Q	R3HDM2_ENST00000403821.2_Silent_p.Q407Q|R3HDM2_ENST00000413953.2_Silent_p.Q134Q|R3HDM2_ENST00000358907.2_Silent_p.Q407Q|R3HDM2_ENST00000441731.2_Silent_p.Q68Q|R3HDM2_ENST00000402412.1_Silent_p.Q421Q|RP11-123K3.4_ENST00000548184.1_3'UTR			Q9Y2K5	R3HD2_HUMAN	R3H domain containing 2	407	Gln-rich.					nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	22						gctgctgctgctgttgctgct	0.567																																						ENST00000402412.1																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	22						c.(1261-1263)caG>caA		R3H domain containing 2							104	93	97					12																	57674222		2203	4300	6503	SO:0001819	synonymous_variant	22864					nucleus	nucleic acid binding	g.chr12:57674222C>T	AB023219	CCDS8937.2	12q13.3	2012-11-19			ENSG00000179912	ENSG00000179912			29167	protein-coding gene	gene with protein product							Standard	NM_014925		Approved	KIAA1002	uc009zpm.1	Q9Y2K5	OTTHUMG00000171568	ENST00000347140.3:c.1221G>A	12.37:g.57674222C>T						R3HDM2_ENST00000347140.3_Silent_p.Q407Q|R3HDM2_ENST00000413953.2_Silent_p.Q134Q|R3HDM2_ENST00000358907.2_Silent_p.Q407Q|RP11-123K3.4_ENST00000548184.1_RNA|R3HDM2_ENST00000441731.2_Silent_p.Q68Q|R3HDM2_ENST00000393811.2_Silent_p.Q134Q|R3HDM2_ENST00000403821.2_Silent_p.Q407Q	p.Q421Q			Q9Y2K5	R3HD2_HUMAN			14	1653	-			407			Gln-rich.		Q2M1T9|Q3ZCT5	Silent	SNP	ENST00000347140.3	37	c.1263G>A	CCDS8937.2	.	.	.	.	.	.	.	.	.	.	C	12.71	2.018308	0.35606	.	.	ENSG00000179912	ENST00000466401	.	.	.	4.49	1.62	0.23740	.	.	.	.	.	T	0.51719	0.1691	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.36768	-0.9734	4	.	.	.	1.0729	5.4164	0.16376	0.0:0.5998:0.1455:0.2548	.	.	.	.	N	5	.	.	S	-	2	0	R3HDM2	55960489	0.030000	0.19436	0.992000	0.48379	0.921000	0.55340	-1.132000	0.03235	0.156000	0.19299	-0.294000	0.09567	AGC		0.567	R3HDM2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000326570.2	NM_014925		3	73	0	0	0	1	0	3	73					T	57674222	C	T	57674222	2	4	237	1	0	0	0	0	0	0	0	1	12888	796	28	3		3	R3HDM2	12	57674222	Silent	SNP	C	TCGA-HC-8265-01A-11D-2260-08	7944373	57674222	76177673	59	11063											
CYSLTR2	57105	broad.mit.edu	37	chr13	49281344	49281344	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagtatttatttcctgaccGtgctgagtgttgtgcgtttc	5	17	11	8	2	0	2	0	2	0	0	2	2	1	2	2	0	2	5	2	0	2	6	rs202077345		TCGA-HC-8265-01A-11D-2260-08	TCGA-HC-8265-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d96380bd-80d2-4c64-ae3f-6f886936204e	ece936c5-0f53-4010-9e99-8091c679d15b	g.chr13:49281344G>C	ENST00000282018.3	+	1	394	c.391G>C	c.(391-393)Gtg>Ctg	p.V131L		NM_020377.2	NP_065110.1	Q9NS75	CLTR2_HUMAN	cysteinyl leukotriene receptor 2	131					immune response (GO:0006955)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell death (GO:0010942)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cysteinyl leukotriene receptor activity (GO:0001631)|leukotriene receptor activity (GO:0004974)			endometrium(2)|large_intestine(4)|lung(12)|skin(2)	20		all_cancers(8;1.66e-53)|all_epithelial(8;1.96e-19)|all_lung(13;9.94e-09)|all_hematologic(8;7.13e-07)|Lung NSC(96;1.72e-06)|Breast(56;1.53e-05)|Acute lymphoblastic leukemia(8;6.86e-05)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0416)|Lung SC(185;0.0787)		GBM - Glioblastoma multiforme(99;1.19e-09)	Nedocromil(DB00716)	TTTCCTGACCGTGCTGAGTGT	0.468																																						ENST00000282018.3																			0				endometrium(2)|large_intestine(4)|lung(12)|skin(2)	20						c.(391-393)Gtg>Ctg		cysteinyl leukotriene receptor 2	Nedocromil(DB00716)						217	208	211					13																	49281344		2203	4300	6503	SO:0001583	missense	57105				immune response	integral to membrane|plasma membrane		g.chr13:49281344G>C	AB038269	CCDS9412.1	13q14.2	2012-08-10			ENSG00000152207	ENSG00000152207		"GPCR / Class A : Leukotriene receptors"	18274	protein-coding gene	gene with protein product		605666				10913337, 1085123	Standard	NM_020377		Approved	CysLT(2), CYSLT2R	uc001vck.2	Q9NS75	OTTHUMG00000016906	ENST00000282018.3:c.391G>C	13.37:g.49281344G>C	ENSP00000282018:p.Val131Leu						p.V131L	NM_020377.2	NP_065110.1	Q9NS75	CLTR2_HUMAN		GBM - Glioblastoma multiforme(99;1.19e-09)	1	394	+		all_cancers(8;1.66e-53)|all_epithelial(8;1.96e-19)|all_lung(13;9.94e-09)|all_hematologic(8;7.13e-07)|Lung NSC(96;1.72e-06)|Breast(56;1.53e-05)|Acute lymphoblastic leukemia(8;6.86e-05)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0416)|Lung SC(185;0.0787)	131					Q9HCQ2	Missense_Mutation	SNP	ENST00000282018.3	37	c.391G>C	CCDS9412.1	.	.	.	.	.	.	.	.	.	.	G	18.32	3.599073	0.66332	.	.	ENSG00000152207	ENST00000282018	T	0.37411	1.2	6.08	4.32	0.51571	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000014	T	0.33644	0.0870	L	0.49126	1.545	0.33023	D	0.529052	B	0.19331	0.035	B	0.20184	0.028	T	0.36866	-0.9730	10	0.17369	T	0.5	.	16.0587	0.80822	0.0:0.2539:0.7461:0.0	.	131	Q9NS75	CLTR2_HUMAN	L	131	ENSP00000282018:V131L	ENSP00000282018:V131L	V	+	1	0	CYSLTR2	48179345	0.805000	0.28982	0.992000	0.48379	0.883000	0.51084	4.079000	0.57613	0.874000	0.35823	-0.175000	0.13238	GTG		0.468	CYSLTR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044894.1			48	149	0	0	0	1	0	48	149					C	49281344	G	C	49281344	3	2	237	1	0	0	0	0	1	0	0	0	4202	1145	40	5	393	5	CYSLTR2	13	49281344	Missense_Mutation	SNP	G	TCGA-HC-8265-01A-11D-2260-08		49281344	65888534	60	11064											
MYH7	4625	broad.mit.edu	37	chr14	23887594	23887594	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atgccgggccgactgcagtgCgtgggccagggcgttcttcg	4	8	17	12	5	1	0	0	0	1	0	2	1	1	0	3	3	3	2	3	3	0	2	rs397516198		TCGA-HC-8265-01A-11D-2260-08	TCGA-HC-8265-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d96380bd-80d2-4c64-ae3f-6f886936204e	ece936c5-0f53-4010-9e99-8091c679d15b	g.chr14:23887594C>T	ENST00000355349.3	-	30	4156	c.3994G>A	c.(3994-3996)Gca>Aca	p.A1332T	MIR208B_ENST00000401172.1_RNA|CTD-2201G16.1_ENST00000557368.1_RNA	NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	1332					adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|myosin complex (GO:0016459)|myosin filament (GO:0032982)|nucleus (GO:0005634)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		GACTGCAGTGCGTGGGCCAGG	0.657																																						ENST00000355349.3																			0				NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137						c.(3994-3996)Gca>Aca		myosin, heavy chain 7, cardiac muscle, beta							30	30	30					14																	23887594		2202	4300	6502	SO:0001583	missense	4625				adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr14:23887594C>T	M58018	CCDS9601.1	14q11.2-q13	2014-09-17	2006-09-29		ENSG00000092054	ENSG00000092054		"Myosins / Myosin superfamily : Class II"	7577	protein-coding gene	gene with protein product		160760	"myopathy, distal 1", "myosin, heavy polypeptide 7, cardiac muscle, beta"	CMH1, MPD1		2494889, 8483915, 15322983	Standard	XM_005267696		Approved	CMD1S	uc001wjx.3	P12883	OTTHUMG00000028755	ENST00000355349.3:c.3994G>A	14.37:g.23887594C>T	ENSP00000347507:p.Ala1332Thr						p.A1332T	NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN		GBM - Glioblastoma multiforme(265;0.00725)	30	4156	-	all_cancers(95;2.54e-05)		1332					A2TDB6|B6D424|Q14836|Q14837|Q14904|Q16579|Q2M1Y6|Q92679|Q9H1D5|Q9UDA2|Q9UMM8	Missense_Mutation	SNP	ENST00000355349.3	37	c.3994G>A	CCDS9601.1	.	.	.	.	.	.	.	.	.	.	C	35	5.533758	0.96460	.	.	ENSG00000092054	ENST00000355349;ENST00000544444	T	0.78003	-1.14	4.97	4.97	0.65823	Myosin tail (1);	.	.	.	.	D	0.86205	0.5877	M	0.80616	2.505	0.80722	D	1	P	0.43662	0.814	P	0.52909	0.713	D	0.87820	0.2637	9	0.66056	D	0.02	.	18.4295	0.90620	0.0:1.0:0.0:0.0	.	1332	P12883	MYH7_HUMAN	T	1332;1337	ENSP00000347507:A1332T	ENSP00000347507:A1332T	A	-	1	0	MYH7	22957434	1.000000	0.71417	0.996000	0.52242	0.975000	0.68041	4.590000	0.61013	2.600000	0.87896	0.655000	0.94253	GCA		0.657	MYH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071798.3	NM_000257		5	38	0	0	0	1	0	5	38					T	23887594	C	T	23887594	3	4	237	1	0	0	0	0	1	0	0	0	10039	768	27	1	1857	1	MYH7	14	23887594	Missense_Mutation	SNP	C	TCGA-HC-8265-01A-11D-2260-08		23887594	83461946	61	11065											
MYH7	4625	broad.mit.edu	37	chr14	23898270	23898270	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaccatccagttgaacatcCtctcatacactgccttggcc	9	11	5	16	0	2	1	2	1	1	0	5	1	4	1	5	1	3	1	5	1	2	3			TCGA-HC-8265-01A-11D-2260-08	TCGA-HC-8265-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d96380bd-80d2-4c64-ae3f-6f886936204e	ece936c5-0f53-4010-9e99-8091c679d15b	g.chr14:23898270C>T	ENST00000355349.3	-	14	1463	c.1301G>A	c.(1300-1302)aGg>aAg	p.R434K		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	434	Myosin motor.				adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|myosin complex (GO:0016459)|myosin filament (GO:0032982)|nucleus (GO:0005634)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		GTTGAACATCCTCTCATACAC	0.542																																						ENST00000355349.3																			0				NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137						c.(1300-1302)aGg>aAg		myosin, heavy chain 7, cardiac muscle, beta							144	127	133					14																	23898270		2203	4300	6503	SO:0001583	missense	4625				adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr14:23898270C>T	M58018	CCDS9601.1	14q11.2-q13	2014-09-17	2006-09-29		ENSG00000092054	ENSG00000092054		"Myosins / Myosin superfamily : Class II"	7577	protein-coding gene	gene with protein product		160760	"myopathy, distal 1", "myosin, heavy polypeptide 7, cardiac muscle, beta"	CMH1, MPD1		2494889, 8483915, 15322983	Standard	XM_005267696		Approved	CMD1S	uc001wjx.3	P12883	OTTHUMG00000028755	ENST00000355349.3:c.1301G>A	14.37:g.23898270C>T	ENSP00000347507:p.Arg434Lys						p.R434K	NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN		GBM - Glioblastoma multiforme(265;0.00725)	14	1463	-	all_cancers(95;2.54e-05)		434			Myosin head-like.		A2TDB6|B6D424|Q14836|Q14837|Q14904|Q16579|Q2M1Y6|Q92679|Q9H1D5|Q9UDA2|Q9UMM8	Missense_Mutation	SNP	ENST00000355349.3	37	c.1301G>A	CCDS9601.1	.	.	.	.	.	.	.	.	.	.	c	1.349	-0.591893	0.03799	.	.	ENSG00000092054	ENST00000355349;ENST00000544444	D	0.88664	-2.41	4.18	-2.61	0.06171	Myosin head, motor domain (2);	.	.	.	.	T	0.78419	0.4280	N	0.25825	0.765	0.21782	N	0.999541	B	0.02656	0.0	B	0.01281	0.0	T	0.59440	-0.7454	9	0.10902	T	0.67	.	11.4013	0.49873	0.0:0.3619:0.0:0.6381	.	434	P12883	MYH7_HUMAN	K	434	ENSP00000347507:R434K	ENSP00000347507:R434K	R	-	2	0	MYH7	22968110	0.983000	0.35010	0.980000	0.43619	0.520000	0.34377	0.109000	0.15417	-0.725000	0.04901	-1.662000	0.00750	AGG		0.542	MYH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071798.3	NM_000257		4	118	0	0	0	1	0	4	118					T	23898270	C	T	23898270	3	4	237	1	0	0	0	0	1	0	0	0	10039	681	24	3	4614	3	MYH7	14	23898270	Missense_Mutation	SNP	C	TCGA-HC-8265-01A-11D-2260-08	10676	23898270	83451270	62	11066											
FOXA1	3169	broad.mit.edu	37	chr14	38061243	38061243	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctcgaacatgttgccggagTccgggtgcagcgtccagtag	7	9	14	11	4	1	0	0	0	1	0	4	2	3	1	3	2	4	3	3	2	2	2			TCGA-HC-8265-01A-11D-2260-08	TCGA-HC-8265-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d96380bd-80d2-4c64-ae3f-6f886936204e	ece936c5-0f53-4010-9e99-8091c679d15b	g.chr14:38061243T>A	ENST00000250448.2	-	2	807	c.746A>T	c.(745-747)gAc>gTc	p.D249V	FOXA1_ENST00000540786.1_Missense_Mutation_p.D216V|FOXA1_ENST00000545425.2_5'UTR	NM_004496.3	NP_004487.2	P55317	FOXA1_HUMAN	forkhead box A1	249					anatomical structure formation involved in morphogenesis (GO:0048646)|chromatin remodeling (GO:0006338)|dorsal/ventral neural tube patterning (GO:0021904)|epithelial cell maturation involved in prostate gland development (GO:0060743)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|epithelial-mesenchymal signaling involved in prostate gland development (GO:0060738)|glucose homeostasis (GO:0042593)|hormone metabolic process (GO:0042445)|lung epithelial cell differentiation (GO:0060487)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron fate specification (GO:0048665)|positive regulation of cell-cell adhesion mediated by cadherin (GO:2000049)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prostate gland epithelium morphogenesis (GO:0060740)|prostate gland stromal morphogenesis (GO:0060741)|response to estradiol (GO:0032355)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)	microvillus (GO:0005902)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|endometrium(1)|large_intestine(2)|lung(3)|prostate(12)	19	Breast(36;0.0954)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		Lung(238;5.41e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0454)|LUSC - Lung squamous cell carcinoma(13;0.0917)|all cancers(34;0.0925)|BRCA - Breast invasive adenocarcinoma(188;0.239)	GBM - Glioblastoma multiforme(112;0.0222)		GTTGCCGGAGTCCGGGTGCAG	0.667																																						ENST00000250448.2																			0				breast(1)|endometrium(1)|large_intestine(2)|lung(3)|prostate(12)	19						c.(745-747)gAc>gTc		forkhead box A1							29	29	29					14																	38061243		2203	4300	6503	SO:0001583	missense	3169				chromatin remodeling|embryo development|epithelial cell maturation involved in prostate gland development|epithelial tube branching involved in lung morphogenesis|epithelial-mesenchymal signaling involved in prostate gland development|glucose homeostasis|lung epithelial cell differentiation|negative regulation of survival gene product expression|neuron fate specification|pattern specification process|positive regulation of estrogen receptor signaling pathway|positive regulation of mitotic cell cycle|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|prostate gland epithelium morphogenesis|prostate gland stromal morphogenesis|response to estradiol stimulus|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development	transcription factor complex	DNA bending activity|double-stranded DNA binding|protein domain specific binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding	g.chr14:38061243T>A	U39840	CCDS9665.1	14q12-q13	2008-04-10		2002-09-20	ENSG00000129514	ENSG00000129514		"Forkhead boxes"	5021	protein-coding gene	gene with protein product		602294	"hepatocyte nuclear factor 3, alpha"	HNF3A		9119385, 8652662	Standard	NM_004496		Approved		uc001wuf.4	P55317	OTTHUMG00000140253	ENST00000250448.2:c.746A>T	14.37:g.38061243T>A	ENSP00000250448:p.Asp249Val					FOXA1_ENST00000545425.2_5'UTR|FOXA1_ENST00000540786.1_Missense_Mutation_p.D216V	p.D249V	NM_004496.3	NP_004487.2	P55317	FOXA1_HUMAN	Lung(238;5.41e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0454)|LUSC - Lung squamous cell carcinoma(13;0.0917)|all cancers(34;0.0925)|BRCA - Breast invasive adenocarcinoma(188;0.239)	GBM - Glioblastoma multiforme(112;0.0222)	2	807	-	Breast(36;0.0954)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		249					B2R9H6|B7ZAP5|Q9H2A0	Missense_Mutation	SNP	ENST00000250448.2	37	c.746A>T	CCDS9665.1	.	.	.	.	.	.	.	.	.	.	T	22.0	4.233975	0.79688	.	.	ENSG00000129514	ENST00000250448;ENST00000540786	D;D	0.95690	-3.78;-3.78	4.0	4.0	0.46444	Winged helix-turn-helix transcription repressor DNA-binding (1);Transcription factor, fork head (3);	0.000000	0.85682	D	0.000000	D	0.96978	0.9013	M	0.75150	2.29	0.80722	D	1	D	0.71674	0.998	D	0.70227	0.968	D	0.97258	0.9902	10	0.87932	D	0	.	12.0003	0.53226	0.0:0.0:0.0:1.0	.	249	P55317	FOXA1_HUMAN	V	249;216	ENSP00000250448:D249V;ENSP00000440178:D216V	ENSP00000250448:D249V	D	-	2	0	FOXA1	37130994	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.870000	0.63035	1.671000	0.50874	0.329000	0.21502	GAC		0.667	FOXA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276735.1			13	21	0	0	0	1	0	13	21					A	38061243	T	A	38061243	3	1	237	1	0	0	0	0	1	0	0	0	5989	1667	58	5	676	5	FOXA1	14	38061243	Missense_Mutation	SNP	T	TCGA-HC-8265-01A-11D-2260-08	14162973	38061243	69288297	63	11067											
TXNDC16	57544	broad.mit.edu	37	chr14	52957171	52957171	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gttcacttccaaagagtcccTttttcaaaatggaaataaat	15	13	5	8	0	2	1	2	0	0	1	4	2	4	2	2	1	0	1	2	1	6	5			TCGA-HC-8265-01A-11D-2260-08	TCGA-HC-8265-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d96380bd-80d2-4c64-ae3f-6f886936204e	ece936c5-0f53-4010-9e99-8091c679d15b	g.chr14:52957171T>C	ENST00000281741.4	-	11	1295		c.e11-2		TXNDC16_ENST00000554399.1_Intron	NM_001160047.1|NM_020784.2	NP_001153519.1|NP_065835.2	Q9P2K2	TXD16_HUMAN	thioredoxin domain containing 16						cell redox homeostasis (GO:0045454)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|prostate(3)|skin(1)	21	Breast(41;0.0716)					AAAGAGTCCCTTTTTCAAAAT	0.303																																						ENST00000281741.4																			0				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|prostate(3)|skin(1)	21						c.e11-2		thioredoxin domain containing 16							69	67	67					14																	52957171		2202	4291	6493	SO:0001630	splice_region_variant	57544				cell redox homeostasis	extracellular region		g.chr14:52957171T>C	AB037765	CCDS32083.1	14q22.1	2007-08-16	2007-08-16	2007-08-16		ENSG00000087301			19965	protein-coding gene	gene with protein product			"KIAA1344"	KIAA1344			Standard	NM_020784		Approved		uc001wzs.3	Q9P2K2		ENST00000281741.4:c.924-2A>G	14.37:g.52957171T>C						TXNDC16_ENST00000554399.1_Intron		NM_001160047.1|NM_020784.2	NP_001153519.1|NP_065835.2	Q9P2K2	TXD16_HUMAN			11	1295	-	Breast(41;0.0716)							A5PKW9|A7E260|A7MD07|B9EH67|Q9H9W7	Splice_Site	SNP	ENST00000281741.4	37		CCDS32083.1	.	.	.	.	.	.	.	.	.	.	T	19.09	3.759965	0.69763	.	.	ENSG00000087301	ENST00000281741	.	.	.	5.16	5.16	0.70880	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.6592	0.51337	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	TXNDC16	52026921	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.583000	0.60964	2.063000	0.61619	0.460000	0.39030	.		0.303	TXNDC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411681.1	XM_051699	Intron	2	21	0	0	0	1	0	2	21					C	52957171	T	C	52957171	5	2	237	1	0	0	0	0	0	0	1	0	16792	1623	56	4	1599	4	TXNDC16	14	52957171	Splice_Site	SNP	T	TCGA-HC-8265-01A-11D-2260-08	14895928	52957171	54392369	64	11068											
SYNE2	23224	broad.mit.edu	37	chr14	64532245	64532245	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggtgcacagaaaatgatggCatatgtttgctcaagattgt	13	12	11	5	0	1	3	1	1	0	2	1	3	1	3	0	2	2	4	0	2	4	3			TCGA-HC-8265-01A-11D-2260-08	TCGA-HC-8265-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d96380bd-80d2-4c64-ae3f-6f886936204e	ece936c5-0f53-4010-9e99-8091c679d15b	g.chr14:64532245C>G	ENST00000344113.4	+	51	10520	c.10308C>G	c.(10306-10308)ggC>ggG	p.G3436G	SYNE2_ENST00000554584.1_Silent_p.G3469G|SYNE2_ENST00000555002.1_Silent_p.G70G|SYNE2_ENST00000358025.3_Silent_p.G3436G|SYNE2_ENST00000357395.3_5'UTR	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	3436					centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		AAAATGATGGCATATGTTTGC	0.443																																						ENST00000358025.3																			0				NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224						c.(10306-10308)ggC>ggG		spectrin repeat containing, nuclear envelope 2							168	160	163					14																	64532245		1949	4152	6101	SO:0001819	synonymous_variant	23224				centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding	g.chr14:64532245C>G	AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"nuclear envelope spectrin repeat-2", "nucleus and actin connecting element"	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.10308C>G	14.37:g.64532245C>G						SYNE2_ENST00000554584.1_Silent_p.G3469G|SYNE2_ENST00000555002.1_Silent_p.G70G|SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000344113.4_Silent_p.G3436G	p.G3436G	NM_182914.2	NP_878918.2	Q8WXH0	SYNE2_HUMAN		all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)	51	10538	+			3436					Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Silent	SNP	ENST00000344113.4	37	c.10308C>G	CCDS41963.1																																																																																				0.443	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276994.2	NM_182914		5	51	0	0	0	1	0	5	51					G	64532245	C	G	64532245	2	3	237	1	0	0	0	0	0	0	0	1	15443	697	25	5		5	SYNE2	14	64532245	Silent	SNP	C	TCGA-HC-8265-01A-11D-2260-08	11575074	64532245	42817295	65	11069											
YLPM1	56252	broad.mit.edu	37	chr14	75264385	75264385	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgccccgatgggccaagaccCagatatgaaggtcacccagc	11	4	11	15	2	1	3	1	1	0	2	1	4	1	3	5	2	1	0	5	2	3	1			TCGA-HC-8265-01A-11D-2260-08	TCGA-HC-8265-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d96380bd-80d2-4c64-ae3f-6f886936204e	ece936c5-0f53-4010-9e99-8091c679d15b	g.chr14:75264385C>T	ENST00000325680.7	+	5	2509	c.2385C>T	c.(2383-2385)ccC>ccT	p.P795P	YLPM1_ENST00000552421.1_Intron|YLPM1_ENST00000238571.3_Silent_p.P600P	NM_019589.2	NP_062535.2	P49750	YLPM1_HUMAN	YLP motif containing 1	600					regulation of telomere maintenance (GO:0032204)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)			breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	62			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)		GGCCAAGACCCAGATATGAAG	0.512																																						ENST00000325680.7																			0				breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	62						c.(2383-2385)ccC>ccT		YLP motif containing 1							32	34	34					14																	75264385		1871	4102	5973	SO:0001819	synonymous_variant	56252				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck		g.chr14:75264385C>T	AK090435	CCDS45135.1	14q24.3	2014-06-13	2004-07-15	2004-07-15	ENSG00000119596	ENSG00000119596			17798	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 169"		"chromosome 14 open reading frame 170"	C14orf170		7596406	Standard	NM_019589		Approved	ZAP, PPP1R169	uc001xqj.4	P49750	OTTHUMG00000172503	ENST00000325680.7:c.2385C>T	14.37:g.75264385C>T						YLPM1_ENST00000238571.3_Silent_p.P600P|YLPM1_ENST00000552421.1_Intron	p.P795P	NM_019589.2	NP_062535.2	P49750	YLPM1_HUMAN	KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)	5	2509	+			600					P49752|Q96I64|Q9P1V7	Silent	SNP	ENST00000325680.7	37	c.2385C>T	CCDS45135.1																																																																																				0.512	YLPM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404451.1	NM_019589		3	8	0	0	0	1	0	3	8					T	75264385	C	T	75264385	2	4	237	1	0	0	0	0	0	0	0	1	17483	581	21	3		3	YLPM1	14	75264385	Silent	SNP	C	TCGA-HC-8265-01A-11D-2260-08	10732140	75264385	32085155	66	11070											
TRPM1	4308	broad.mit.edu	37	chr15	31359360	31359360	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tggacttggaggagtggtctTtcaaggcatcccctacgtgg	7	11	14	9	1	2	0	1	0	1	0	3	3	3	3	2	6	1	1	2	6	2	3			TCGA-HC-8265-01A-11D-2260-08	TCGA-HC-8265-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d96380bd-80d2-4c64-ae3f-6f886936204e	ece936c5-0f53-4010-9e99-8091c679d15b	g.chr15:31359360T>C	ENST00000256552.6	-	6	671	c.524A>G	c.(523-525)aAa>aGa	p.K175R	MIR211_ENST00000384969.1_RNA|TRPM1_ENST00000397795.2_Missense_Mutation_p.K153R|TRPM1_ENST00000542188.1_Missense_Mutation_p.K192R	NM_001252024.1	NP_001238953.1			transient receptor potential cation channel, subfamily M, member 1											NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		GGAGTGGTCTTTCAAGGCATC	0.478																																						ENST00000542188.1																			0				NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99						c.(574-576)aAa>aGa		transient receptor potential cation channel, subfamily M, member 1							117	116	117					15																	31359360		1913	4116	6029	SO:0001583	missense	4308				cellular response to light stimulus|visual perception	integral to plasma membrane	calcium channel activity|receptor activity	g.chr15:31359360T>C	AF071787	CCDS10024.2, CCDS58345.1, CCDS58346.1, CCDS58347.1	15q13.3	2014-01-28		2002-01-18	ENSG00000134160	ENSG00000134160		"Voltage-gated ion channels / Transient receptor potential cation channels"	7146	protein-coding gene	gene with protein product		603576	"melastatin 1"	MLSN1		9806836, 9537257, 16382100	Standard	NM_001252020		Approved	LTRPC1, CSNB1C	uc021sia.1	Q7Z4N2	OTTHUMG00000129267	ENST00000256552.6:c.524A>G	15.37:g.31359360T>C	ENSP00000256552:p.Lys175Arg					TRPM1_ENST00000397795.2_Missense_Mutation_p.K153R|TRPM1_ENST00000256552.6_Missense_Mutation_p.K175R	p.K192R	NM_001252020.1	NP_001238949.1	Q7Z4N2	TRPM1_HUMAN		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)	5	888	-		all_lung(180;1.92e-11)	153						Missense_Mutation	SNP	ENST00000256552.6	37	c.575A>G	CCDS58346.1	.	.	.	.	.	.	.	.	.	.	T	31	5.061186	0.93846	.	.	ENSG00000134160	ENST00000397795;ENST00000542188;ENST00000256552;ENST00000397793	T;T;T	0.02631	4.22;4.22;4.22	6.11	6.11	0.99139	.	0.000000	0.85682	D	0.000000	T	0.09992	0.0245	L	0.33485	1.01	0.80722	D	1	D;P	0.65815	0.995;0.892	D;P	0.77557	0.99;0.707	T	0.04811	-1.0925	10	0.87932	D	0	-36.4876	16.7021	0.85357	0.0:0.0:0.0:1.0	.	153;153	Q7Z4N2-3;Q7Z4N2	.;TRPM1_HUMAN	R	153;192;175;153	ENSP00000380897:K153R;ENSP00000437849:K192R;ENSP00000256552:K175R	ENSP00000256552:K175R	K	-	2	0	TRPM1	29146652	1.000000	0.71417	0.994000	0.49952	0.998000	0.95712	6.292000	0.72725	2.343000	0.79666	0.533000	0.62120	AAA		0.478	TRPM1-004	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417166.2	NM_002420		3	86	0	0	0	1	0	3	86					C	31359360	T	C	31359360	3	2	237	1	0	0	0	0	1	0	0	0	16582	1841	64	4	4445	4	TRPM1	15	31359360	Missense_Mutation	SNP	T	TCGA-HC-8265-01A-11D-2260-08		31359360	71172032	67	11071											
CACNA1H	8912	broad.mit.edu	37	chr16	1270653	1270653	+	Frame_Shift_Del	DEL	G	G	-																															ccacagagggctcaggcgccGggggggaccctgcagccaag																								rs200606995		TCGA-HC-8265-01A-11D-2260-08	TCGA-HC-8265-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d96380bd-80d2-4c64-ae3f-6f886936204e	ece936c5-0f53-4010-9e99-8091c679d15b	g.chr16:1270653delG	ENST00000348261.5	+	35	6969	c.6721delG	c.(6721-6723)gggfs	p.G2242fs	CACNA1H_ENST00000358590.4_Frame_Shift_Del_p.G2236fs|CACNA1H_ENST00000565831.1_Frame_Shift_Del_p.G2236fs	NM_021098.2	NP_066921.2	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type, alpha 1H subunit	2242					aldosterone biosynthetic process (GO:0032342)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|cellular response to hormone stimulus (GO:0032870)|cellular response to potassium ion (GO:0035865)|cortisol biosynthetic process (GO:0034651)|membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|myoblast fusion (GO:0007520)|positive regulation of acrosome reaction (GO:2000344)|regulation of heart contraction (GO:0008016)|regulation of membrane potential (GO:0042391)|transport (GO:0006810)	caveola (GO:0005901)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|voltage-gated calcium channel complex (GO:0005891)	low voltage-gated calcium channel activity (GO:0008332)|metal ion binding (GO:0046872)|scaffold protein binding (GO:0097110)			breast(4)|endometrium(5)|kidney(2)|lung(23)	34		Hepatocellular(780;0.00369)			Amiodarone(DB01118)|Bepridil(DB01244)|Cinnarizine(DB00568)|Felodipine(DB01023)|Flunarizine(DB04841)|Isradipine(DB00270)|Nifedipine(DB01115)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Zonisamide(DB00909)	CTCAGGCGCCGGGGGGGACCC	0.731																																						ENST00000348261.5																			0				breast(4)|endometrium(5)|kidney(2)|lung(23)	34						c.(6721-6723)ggfs		calcium channel, voltage-dependent, T type, alpha 1H subunit	Flunarizine(DB04841)|Mibefradil(DB01388)		,	22,3310		0,22,1644	6	8	8		,	-6.4	0	16		7	58,7378		2,54,3662	no	frameshift,frameshift	CACNA1H	NM_021098.2,NM_001005407.1	,	2,76,5306	A1A1,A1R,RR		0.78,0.6603,0.7429	,	,	1270653	80,10688	1791	3948	5739	SO:0001589	frameshift_variant	8912				aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity	g.chr16:1270653delG	AL031703	CCDS45375.1, CCDS45376.1	16p13.3	2012-03-07	2007-02-16					"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1395	protein-coding gene	gene with protein product		607904				9670923, 16382099	Standard	NM_021098		Approved	Cav3.2	uc002cks.3	O95180		ENST00000348261.5:c.6721delG	16.37:g.1270653delG	ENSP00000334198:p.Gly2242fs					CACNA1H_ENST00000565831.1_Frame_Shift_Del_p.G2236fs|CACNA1H_ENST00000358590.4_Frame_Shift_Del_p.G2236fs	p.G2242fs	NM_021098.2	NP_066921.2	O95180	CAC1H_HUMAN			35	6969	+		Hepatocellular(780;0.00369)	2242					B5ME00|F8WFD1|O95802|Q8WWI6|Q96QI6|Q96RZ9|Q9NYY4|Q9NYY5	Frame_Shift_Del	DEL	ENST00000348261.5	37	c.6721delG	CCDS45375.1																																																																																				0.731	CACNA1H-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000421601.1	NM_001005407		2	4						2	4	---	---	---	---	-	1270653	G	-	1270653	7	5	237	1	0	1	0	1	0	0	0	0	2545	1116	39	0	6855	0	CACNA1H	16	1270653	Frame_Shift_Del	DEL	G	TCGA-HC-8265-01A-11D-2260-08		1270653	89084100	68	11072											
KIAA0513	9764	broad.mit.edu	37	chr16	85111074	85111074	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gagtcccgggagaagcccgcGggcagcatcgactcctacct	8	5	13	15	4	0	1	0	0	0	1	3	4	2	1	4	2	3	2	4	2	2	1			TCGA-HC-8265-01A-11D-2260-08	TCGA-HC-8265-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d96380bd-80d2-4c64-ae3f-6f886936204e	ece936c5-0f53-4010-9e99-8091c679d15b	g.chr16:85111074G>A	ENST00000566428.1	+	6	1249	c.618G>A	c.(616-618)gcG>gcA	p.A206A	KIAA0513_ENST00000258180.3_Silent_p.A206A|KIAA0513_ENST00000538274.1_Silent_p.A206A|KIAA0513_ENST00000567328.1_Silent_p.A206A			O60268	K0513_HUMAN	KIAA0513	206						cytoplasm (GO:0005737)				breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(9)|pancreas(1)	18				BRCA - Breast invasive adenocarcinoma(80;0.234)		AGAAGCCCGCGGGCAGCATCG	0.612																																						ENST00000566428.1																			0				breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(9)|pancreas(1)	18						c.(616-618)gcG>gcA		KIAA0513							33	38	37					16																	85111074		2198	4300	6498	SO:0001819	synonymous_variant	9764					cytoplasm		g.chr16:85111074G>A	AB011085	CCDS32499.1, CCDS67091.1, CCDS73919.1	16q24.1	2012-11-29			ENSG00000135709	ENSG00000135709			29058	protein-coding gene	gene with protein product		611675				9628581	Standard	XM_005256265		Approved		uc002fiu.3	O60268	OTTHUMG00000176597	ENST00000566428.1:c.618G>A	16.37:g.85111074G>A						KIAA0513_ENST00000258180.3_Silent_p.A206A|KIAA0513_ENST00000538274.1_Silent_p.A206A|KIAA0513_ENST00000567328.1_Silent_p.A206A	p.A206A			O60268	K0513_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.234)	6	1249	+			206					B4DSS5|D3DUM2|Q8N6G0	Silent	SNP	ENST00000566428.1	37	c.618G>A	CCDS32499.1																																																																																				0.612	KIAA0513-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432736.1	NM_014732		10	23	0	0	0	1	0	10	23					A	85111074	G	A	85111074	2	1	237	1	0	0	0	0	0	0	0	1	8181	1103	39	2		2	KIAA0513	16	85111074	Silent	SNP	G	TCGA-HC-8265-01A-11D-2260-08	83840421	85111074	5243679	69	11073											
ABR	29	broad.mit.edu	37	chr17	1028558	1028558	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggagtcggggagacgccaTcccccccgccctggctgcgg	4	5	16	16	4	0	1	0	0	0	1	2	3	1	2	5	5	1	1	5	5	0	0			TCGA-HC-8265-01A-11D-2260-08	TCGA-HC-8265-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d96380bd-80d2-4c64-ae3f-6f886936204e	ece936c5-0f53-4010-9e99-8091c679d15b	g.chr17:1028558T>C	ENST00000302538.5	-	2	352	c.206A>G	c.(205-207)gAt>gGt	p.D69G	ABR_ENST00000544583.2_Missense_Mutation_p.D23G|ABR_ENST00000574437.1_Missense_Mutation_p.D23G	NM_001282149.1|NM_021962.3	NP_001269078.1|NP_068781.2	Q12979	ABR_HUMAN	active BCR-related	69					actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|brain development (GO:0007420)|inner ear morphogenesis (GO:0042472)|negative regulation of cell migration (GO:0030336)|negative regulation of inflammatory response (GO:0050728)|negative regulation of neutrophil degranulation (GO:0043314)|neuromuscular process controlling balance (GO:0050885)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of phagocytosis (GO:0050766)|regulation of small GTPase mediated signal transduction (GO:0051056)|response to lipopolysaccharide (GO:0032496)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|Rac GTPase activator activity (GO:0030675)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39				UCEC - Uterine corpus endometrioid carcinoma (25;0.0228)		GGAGACGCCATCCCCCCCGCC	0.677																																					Esophageal Squamous(197;2016 2115 4129 29033 46447)	ENST00000544583.2																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39						c.(67-69)gAt>gGt		active BCR-related							66	66	66					17																	1028558		2202	4300	6502	SO:0001583	missense	29				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr17:1028558T>C	L19704	CCDS10999.1, CCDS11000.1, CCDS54060.1, CCDS58497.1, CCDS73936.1	17p13	2013-01-10	2012-02-27		ENSG00000159842	ENSG00000159842		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	81	protein-coding gene	gene with protein product		600365	"active BCR-related gene"			2587217, 7479768	Standard	NM_001092		Approved	MDB	uc002fsd.4	Q12979	OTTHUMG00000090313	ENST00000302538.5:c.206A>G	17.37:g.1028558T>C	ENSP00000303909:p.Asp69Gly					ABR_ENST00000302538.5_Missense_Mutation_p.D69G|ABR_ENST00000574437.1_Missense_Mutation_p.D23G	p.D23G	NM_001159746.2	NP_001153218.1	Q12979	ABR_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.0228)	2	667	-			69					B3KW89|B7Z6H7|D3DTH3|D3DTH4|F5H3S2|F5H8B3|Q13693|Q13694	Missense_Mutation	SNP	ENST00000302538.5	37	c.68A>G	CCDS10999.1	.	.	.	.	.	.	.	.	.	.	T	11.93	1.786281	0.31593	.	.	ENSG00000159842	ENST00000302538;ENST00000544583	T;T	0.20200	2.09;2.09	5.49	5.49	0.81192	Dbl homology (DH) domain (1);	0.275585	0.40064	N	0.001193	T	0.23289	0.0563	L	0.52573	1.65	0.80722	D	1	P;B	0.44877	0.845;0.0	B;B	0.41374	0.355;0.0	T	0.02037	-1.1225	10	0.66056	D	0.02	.	13.5548	0.61754	0.0:0.0:0.0:1.0	.	23;69	B3KW89;Q12979	.;ABR_HUMAN	G	69;23	ENSP00000303909:D69G;ENSP00000442048:D23G	ENSP00000303909:D69G	D	-	2	0	ABR	975308	1.000000	0.71417	0.740000	0.30986	0.003000	0.03518	5.253000	0.65452	2.085000	0.62840	0.533000	0.62120	GAT		0.677	ABR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206675.4			3	85	0	0	0	1	0	3	85					C	1028558	T	C	1028558	3	2	237	1	0	0	0	0	1	0	0	0	99	1435	50	4	2600	4	ABR	17	1028558	Missense_Mutation	SNP	T	TCGA-HC-8265-01A-11D-2260-08		1028558	80166652	70	11074											
CAMTA2	23125	broad.mit.edu	37	chr17	4884982	4884982	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctgccttacacatgggctTcagctgtcccaacaactcct	8	11	7	15	0	1	0	1	0	0	0	3	0	3	0	3	1	6	3	3	1	3	2			TCGA-HC-8265-01A-11D-2260-08	TCGA-HC-8265-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d96380bd-80d2-4c64-ae3f-6f886936204e	ece936c5-0f53-4010-9e99-8091c679d15b	g.chr17:4884982T>G	ENST00000348066.3	-	7	679	c.556A>C	c.(556-558)Aag>Cag	p.K186Q	CAMTA2_ENST00000358183.4_Missense_Mutation_p.K186Q|CAMTA2_ENST00000361571.5_Missense_Mutation_p.K185Q|CAMTA2_ENST00000414043.3_Missense_Mutation_p.K209Q|CAMTA2_ENST00000572543.1_Missense_Mutation_p.K191Q|CAMTA2_ENST00000571831.1_5'Flank|CAMTA2_ENST00000381311.5_Missense_Mutation_p.K188Q	NM_015099.3	NP_055914.2	O94983	CMTA2_HUMAN	calmodulin binding transcription activator 2	186					cardiac muscle hypertrophy in response to stress (GO:0014898)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone deacetylase binding (GO:0042826)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(5)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	31						CACATGGGCTTCAGCTGTCCC	0.602																																						ENST00000361571.5																			0				breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(5)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	31						c.(553-555)Aag>Cag		calmodulin binding transcription activator 2							60	58	59					17																	4884982		2203	4300	6503	SO:0001583	missense	23125				cardiac muscle hypertrophy in response to stress|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	calmodulin binding|chromatin binding|histone deacetylase binding|transcription factor binding	g.chr17:4884982T>G	AB020716	CCDS11063.1, CCDS54071.1, CCDS54072.1, CCDS54073.1	17p13.3	2004-09-01			ENSG00000108509	ENSG00000108509			18807	protein-coding gene	gene with protein product		611508				11925432	Standard	NM_015099		Approved	KIAA0909	uc010cku.2	O94983	OTTHUMG00000099417	ENST00000348066.3:c.556A>C	17.37:g.4884982T>G	ENSP00000321813:p.Lys186Gln					CAMTA2_ENST00000381311.5_Missense_Mutation_p.K188Q|CAMTA2_ENST00000358183.4_Missense_Mutation_p.K186Q|CAMTA2_ENST00000348066.3_Missense_Mutation_p.K186Q|CAMTA2_ENST00000414043.3_Missense_Mutation_p.K209Q|CAMTA2_ENST00000572543.1_Missense_Mutation_p.K191Q	p.K185Q	NM_001171168.1	NP_001164639.1	O94983	CMTA2_HUMAN			6	964	-			186					B9EGL0|D3DTL5|E7EWU5|Q7Z6M8|Q8N3V0|Q8NDG4|Q96G17	Missense_Mutation	SNP	ENST00000348066.3	37	c.553A>C	CCDS11063.1	.	.	.	.	.	.	.	.	.	.	T	17.89	3.498721	0.64298	.	.	ENSG00000108509	ENST00000414043;ENST00000381311;ENST00000361571;ENST00000358183;ENST00000348066	T;T;T;T;T	0.47177	2.32;1.37;0.85;1.35;1.12	5.22	5.22	0.72569	.	0.112351	0.64402	D	0.000018	T	0.44371	0.1290	L	0.29908	0.895	0.36978	D	0.894138	P;P;P;P	0.45283	0.774;0.76;0.611;0.855	B;P;B;P	0.47299	0.341;0.543;0.221;0.543	T	0.56505	-0.7968	10	0.87932	D	0	-15.6391	13.1065	0.59249	0.0:0.0:0.0:1.0	.	209;188;186;185	E7EWU5;O94983-3;O94983;O94983-4	.;.;CMTA2_HUMAN;.	Q	209;188;185;186;186	ENSP00000412886:K209Q;ENSP00000370712:K188Q;ENSP00000354828:K185Q;ENSP00000350910:K186Q;ENSP00000321813:K186Q	ENSP00000321813:K186Q	K	-	1	0	CAMTA2	4825706	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.783000	0.68982	2.192000	0.70111	0.459000	0.35465	AAG		0.602	CAMTA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000216876.1	NM_015099		3	70	0	0	0	1	0	3	70					G	4884982	T	G	4884982	3	3	237	1	0	0	0	0	1	0	0	0	2614	1792	62	5	3170	5	CAMTA2	17	4884982	Missense_Mutation	SNP	T	TCGA-HC-8265-01A-11D-2260-08	3856424	4884982	76310228	71	11075											
NEURL4	84461	broad.mit.edu	37	chr17	7229026	7229026	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccttgtgaggccaatgtggtCaccctcctaatcaaagaaga	12	9	9	11	0	2	3	2	1	0	2	3	3	3	3	4	2	0	0	4	2	4	2			TCGA-HC-8265-01A-11D-2260-08	TCGA-HC-8265-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d96380bd-80d2-4c64-ae3f-6f886936204e	ece936c5-0f53-4010-9e99-8091c679d15b	g.chr17:7229026C>T	ENST00000399464.2	-	7	1315	c.1300G>A	c.(1300-1302)Gac>Aac	p.D434N	NEURL4_ENST00000570460.1_Missense_Mutation_p.D412N|NEURL4_ENST00000315614.7_Missense_Mutation_p.D434N	NM_032442.2	NP_115818.2	Q96JN8	NEUL4_HUMAN	neuralized E3 ubiquitin protein ligase 4	434	NHR 2. {ECO:0000255|PROSITE- ProRule:PRU00400}.					cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						CCAATGTGGTCACCCTCCTAA	0.532																																						ENST00000399464.2																			0				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						c.(1300-1302)Gac>Aac		neuralized E3 ubiquitin protein ligase 4							102	105	104					17																	7229026		1950	4149	6099	SO:0001583	missense	84461							g.chr17:7229026C>T		CCDS42251.1, CCDS42252.1	17p13	2013-10-24	2013-10-24		ENSG00000215041	ENSG00000215041			34410	protein-coding gene	gene with protein product		615865	"neuralized homolog 4 (Drosophila)"			22261722, 22441691	Standard	NM_001005408		Approved	KIAA1787	uc002gga.1	Q96JN8	OTTHUMG00000132319	ENST00000399464.2:c.1300G>A	17.37:g.7229026C>T	ENSP00000382390:p.Asp434Asn					NEURL4_ENST00000570460.1_Missense_Mutation_p.D412N|NEURL4_ENST00000315614.7_Missense_Mutation_p.D434N	p.D434N	NM_032442.2	NP_115818.2					7	1315	-								Q6GPI8|Q96IU9|Q9H0B0	Missense_Mutation	SNP	ENST00000399464.2	37	c.1300G>A	CCDS42251.1	.	.	.	.	.	.	.	.	.	.	C	34	5.301133	0.95601	.	.	ENSG00000215041	ENST00000315614;ENST00000399464	T;T	0.42513	0.97;0.98	5.2	5.2	0.72013	NEUZ (2);	0.000000	0.85682	D	0.000000	T	0.65512	0.2698	M	0.79011	2.435	0.53688	D	0.999972	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.65005	-0.6273	10	0.42905	T	0.14	-36.9254	16.2857	0.82720	0.0:1.0:0.0:0.0	.	434;434	Q96JN8-2;Q96JN8	.;NEUL4_HUMAN	N	434	ENSP00000319826:D434N;ENSP00000382390:D434N	ENSP00000319826:D434N	D	-	1	0	NEURL4	7169750	1.000000	0.71417	0.994000	0.49952	0.897000	0.52465	6.384000	0.73177	2.722000	0.93159	0.655000	0.94253	GAC		0.532	NEURL4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255434.2	NM_032442		12	53	0	0	0	1	0	12	53					T	7229026	C	T	7229026	3	4	237	1	0	0	0	0	1	0	0	0	10347	826	29	3	3480	3	NEURL4	17	7229026	Missense_Mutation	SNP	C	TCGA-HC-8265-01A-11D-2260-08	2344044	7229026	73966184	72	11076											
CDK12	51755	broad.mit.edu	37	chr17	37627877	37627877	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agacatctgctgtgtcctctCaggcaaattctcagccccct	8	11	7	15	0	3	1	2	0	3	1	6	1	4	1	3	1	2	2	3	1	1	1			TCGA-HC-8265-01A-11D-2260-08	TCGA-HC-8265-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d96380bd-80d2-4c64-ae3f-6f886936204e	ece936c5-0f53-4010-9e99-8091c679d15b	g.chr17:37627877C>T	ENST00000447079.4	+	2	1825	c.1792C>T	c.(1792-1794)Cag>Tag	p.Q598*	CDK12_ENST00000430627.2_Nonsense_Mutation_p.Q598*	NM_015083.1|NM_016507.2	NP_055898.1|NP_057591.2	Q9NYV4	CDK12_HUMAN	cyclin-dependent kinase 12	598					mRNA processing (GO:0006397)|phosphorylation of RNA polymerase II C-terminal domain (GO:0070816)|protein autophosphorylation (GO:0046777)|regulation of MAP kinase activity (GO:0043405)|RNA splicing (GO:0008380)	cyclin K-CDK12 complex (GO:0002944)|nuclear cyclin-dependent protein kinase holoenzyme complex (GO:0019908)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cyclin binding (GO:0030332)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)			NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3)	70						TGTGTCCTCTCAGGCAAATTC	0.488			"Mis, N, F"		serous ovarian					TCGA Ovarian(9;0.13)																												ENST00000447079.4				Rec	yes		17	17q12	51755	"Mis, N, F"	cyclin-dependent kinase 12			E			serous ovarian		0				NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3)	70						c.(1792-1794)Cag>Tag		cyclin-dependent kinase 12							141	139	139					17																	37627877		2203	4300	6503	SO:0001587	stop_gained	51755				mRNA processing|phosphorylation of RNA polymerase II C-terminal domain|protein autophosphorylation|regulation of MAP kinase activity|RNA splicing	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck|nucleolus	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity	g.chr17:37627877C>T	AF227198	CCDS11337.1, CCDS45666.1	17q12	2011-10-25	2009-12-16	2009-12-16	ENSG00000167258	ENSG00000167258		"Cyclin-dependent kinases"	24224	protein-coding gene	gene with protein product	"CDC2 related protein kinase 7"	615514	"Cdc2-related kinase, arginine/serine-rich"	CRKRS		10048485, 11683387, 19884882	Standard	XM_005257456		Approved	CRK7, CRKR, KIAA0904	uc010cvv.3	Q9NYV4	OTTHUMG00000133214	ENST00000447079.4:c.1792C>T	17.37:g.37627877C>T	ENSP00000398880:p.Gln598*	TCGA Ovarian(9;0.13)				CDK12_ENST00000430627.2_Nonsense_Mutation_p.Q598*	p.Q598*	NM_015083.1|NM_016507.2	NP_055898.1|NP_057591.2	Q9NYV4	CDK12_HUMAN			2	1825	+			598					A7E2B2|B4DYX4|B9EIQ6|O94978	Nonsense_Mutation	SNP	ENST00000447079.4	37	c.1792C>T	CCDS11337.1	.	.	.	.	.	.	.	.	.	.	C	38	7.207740	0.98136	.	.	ENSG00000167258	ENST00000430627;ENST00000447079	.	.	.	5.79	5.79	0.91817	.	0.149275	0.31484	N	0.007576	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.09843	T	0.71	-4.0772	19.0299	0.92952	0.0:1.0:0.0:0.0	.	.	.	.	X	598	.	ENSP00000407720:Q598X	Q	+	1	0	CDK12	34881403	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.899000	0.69846	2.736000	0.93811	0.655000	0.94253	CAG		0.488	CDK12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256941.4	NM_016507		60	136	0	0	0	1	0	60	136					T	37627877	C	T	37627877	4	4	237	1	0	0	0	0	0	1	0	0	3128	827	29	3	1798	3	CDK12	17	37627877	Nonsense_Mutation	SNP	C	TCGA-HC-8265-01A-11D-2260-08	30398851	37627877	43567333	73	11077											
KRT38	8687	broad.mit.edu	37	chr17	39595598	39595598	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caccagctggcgcagggagcGctcactctccagcctttcat	7	8	10	16	2	3	0	2	0	1	0	4	1	3	1	3	2	3	3	3	2	0	1			TCGA-HC-8265-01A-11D-2260-08	TCGA-HC-8265-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d96380bd-80d2-4c64-ae3f-6f886936204e	ece936c5-0f53-4010-9e99-8091c679d15b	g.chr17:39595598G>A	ENST00000246646.3	-	3	588	c.589C>T	c.(589-591)Cgc>Tgc	p.R197C		NM_006771.3	NP_006762.3	O76015	KRT38_HUMAN	keratin 38	197	Coil 1B.|Rod.					extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	29		Breast(137;0.000496)				CGCAGGGAGCGCTCACTCTCC	0.622																																						ENST00000246646.3																			0				breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	29						c.(589-591)Cgc>Tgc		keratin 38							68	64	65					17																	39595598		2203	4300	6503	SO:0001583	missense	8687					intermediate filament	structural molecule activity	g.chr17:39595598G>A	Y16794	CCDS11392.1	17q21.2	2013-06-20	2006-07-17	2006-07-17	ENSG00000171360	ENSG00000171360		"-", "Intermediate filaments type I, keratins (acidic)"	6456	protein-coding gene	gene with protein product		604542	"keratin, hair, acidic, 8"	KRTHA8		9756910, 16831889	Standard	NM_006771		Approved		uc002hwq.1	O76015	OTTHUMG00000133439	ENST00000246646.3:c.589C>T	17.37:g.39595598G>A	ENSP00000246646:p.Arg197Cys						p.R197C	NM_006771.3	NP_006762.3	O76015	KRT38_HUMAN			3	588	-		Breast(137;0.000496)	197			Coil 1B.|Rod.		A2RRM5|Q6A164	Missense_Mutation	SNP	ENST00000246646.3	37	c.589C>T	CCDS11392.1	.	.	.	.	.	.	.	.	.	.	G	11.33	1.607628	0.28623	.	.	ENSG00000171360	ENST00000246646	D	0.89123	-2.47	4.21	0.887	0.19200	Filament (1);	1.673740	0.03747	N	0.255949	D	0.84170	0.5413	L	0.43923	1.385	0.25560	N	0.987002	B	0.22346	0.068	B	0.15052	0.012	T	0.69785	-0.5051	10	0.66056	D	0.02	.	4.8965	0.13753	0.3474:0.1498:0.5028:0.0	.	197	O76015	KRT38_HUMAN	C	197	ENSP00000246646:R197C	ENSP00000246646:R197C	R	-	1	0	KRT38	36849124	0.000000	0.05858	0.446000	0.26920	0.131000	0.20780	-0.192000	0.09587	0.430000	0.26230	0.484000	0.47621	CGC		0.622	KRT38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257307.2	NM_006771		4	66	0	0	0	1	0	4	66					A	39595598	G	A	39595598	3	1	237	1	0	0	0	0	1	0	0	0	8475	1087	38	1	801	1	KRT38	17	39595598	Missense_Mutation	SNP	G	TCGA-HC-8265-01A-11D-2260-08	1967721	39595598	41599612	74	11078											
STAT3	6774	broad.mit.edu	37	chr17	40477031	40477031	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	caggatggacgcccaggcatTtggcatctgacagatgttgg	9	9	14	9	1	1	2	0	1	1	1	1	4	1	4	1	5	0	3	1	5	0	2			TCGA-HC-8265-01A-11D-2260-08	TCGA-HC-8265-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d96380bd-80d2-4c64-ae3f-6f886936204e	ece936c5-0f53-4010-9e99-8091c679d15b	g.chr17:40477031T>C	ENST00000264657.5	-	16	1726	c.1414A>G	c.(1414-1416)Aat>Gat	p.N472D	STAT3_ENST00000588969.1_Missense_Mutation_p.N472D|STAT3_ENST00000389272.3_Missense_Mutation_p.N374D|STAT3_ENST00000404395.3_Missense_Mutation_p.N472D|STAT3_ENST00000585517.1_Missense_Mutation_p.N472D	NM_003150.3|NM_139276.2	NP_003141.2|NP_644805.1	P40763	STAT3_HUMAN	signal transducer and activator of transcription 3 (acute-phase response factor)	472					acute-phase response (GO:0006953)|astrocyte differentiation (GO:0048708)|cell proliferation (GO:0008283)|cellular component movement (GO:0006928)|cellular response to hormone stimulus (GO:0032870)|cytokine-mediated signaling pathway (GO:0019221)|eating behavior (GO:0042755)|eye photoreceptor cell differentiation (GO:0001754)|glucose homeostasis (GO:0042593)|growth hormone receptor signaling pathway (GO:0060396)|interleukin-6-mediated signaling pathway (GO:0070102)|intracellular receptor signaling pathway (GO:0030522)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|negative regulation of cell death (GO:0060548)|negative regulation of cell proliferation (GO:0008285)|negative regulation of glycolytic process (GO:0045820)|negative regulation of neuron migration (GO:2001223)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphorylation (GO:0016310)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein import into nucleus (GO:0006606)|radial glial cell differentiation (GO:0060019)|regulation of multicellular organism growth (GO:0040014)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|sexual reproduction (GO:0019953)|signal transduction (GO:0007165)|stem cell maintenance (GO:0019827)|temperature homeostasis (GO:0001659)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein dimerization activity (GO:0046983)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|RNA polymerase II repressing transcription factor binding (GO:0001103)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		all_cancers(22;1.39e-06)|all_epithelial(22;2.95e-05)|Breast(137;0.000135)		BRCA - Breast invasive adenocarcinoma(366;0.139)		GCCCAGGCATTTGGCATCTGA	0.577									Hyperimmunoglobulin E Recurrent Infection Syndrome																													ENST00000264657.5																			0				breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	GRCh37	CM083168	STAT3	M		c.(1414-1416)Aat>Gat		signal transducer and activator of transcription 3 (acute-phase response factor)							148	136	140					17																	40477031		2203	4300	6503	SO:0001583	missense	6774	Hyperimmunoglobulin E Recurrent Infection Syndrome	Familial Cancer Database	HIES, Hyper IgE syndrome, autosomal dominant (Job syndrome) / recessive	cellular component movement|eating behavior|eye photoreceptor cell differentiation|glucose homeostasis|interleukin-6-mediated signaling pathway|interspecies interaction between organisms|JAK-STAT cascade involved in growth hormone signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|protein import into nucleus|response to estradiol stimulus|sexual reproduction|temperature homeostasis	cytosol|nucleus|plasma membrane	calcium ion binding|ligand-regulated transcription factor activity|protein dimerization activity|protein kinase binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription factor binding|transcription regulatory region DNA binding	g.chr17:40477031T>C	BC014482	CCDS32656.1, CCDS32657.1, CCDS59288.1	17q21	2014-09-17			ENSG00000168610	ENSG00000168610		"SH2 domain containing"	11364	protein-coding gene	gene with protein product		102582				7512451	Standard	NM_139276		Approved	APRF	uc002hzl.1	P40763	OTTHUMG00000150645	ENST00000264657.5:c.1414A>G	17.37:g.40477031T>C	ENSP00000264657:p.Asn472Asp					STAT3_ENST00000588969.1_Missense_Mutation_p.N472D|STAT3_ENST00000404395.3_Missense_Mutation_p.N472D|STAT3_ENST00000389272.3_Missense_Mutation_p.N374D|STAT3_ENST00000585517.1_Missense_Mutation_p.N472D	p.N472D	NM_003150.3|NM_139276.2	NP_003141.2|NP_644805.1	P40763	STAT3_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.139)	16	1726	-		all_cancers(22;1.39e-06)|all_epithelial(22;2.95e-05)|Breast(137;0.000135)	472					A8K7B8|K7ENL3|O14916|Q9BW54	Missense_Mutation	SNP	ENST00000264657.5	37	c.1414A>G	CCDS32656.1	.	.	.	.	.	.	.	.	.	.	T	27.3	4.822088	0.90873	.	.	ENSG00000168610	ENST00000264657;ENST00000389272;ENST00000404395	D;D;D	0.88124	-2.34;-2.34;-2.34	5.61	5.61	0.85477	STAT transcription factor, DNA-binding (1);p53-like transcription factor, DNA-binding (1);EF-hand-like domain (1);	0.086699	0.85682	D	0.000000	D	0.89918	0.6854	L	0.41632	1.29	0.80722	D	1	D;D;D	0.58268	0.978;0.982;0.982	P;D;D	0.63192	0.857;0.912;0.912	D	0.91007	0.4847	10	0.72032	D	0.01	-38.9604	15.8028	0.78468	0.0:0.0:0.0:1.0	.	472;472;472	P40763-2;P40763;B5BTZ6	.;STAT3_HUMAN;.	D	472;374;472	ENSP00000264657:N472D;ENSP00000373923:N374D;ENSP00000384943:N472D	ENSP00000264657:N472D	N	-	1	0	STAT3	37730557	1.000000	0.71417	0.964000	0.40570	0.987000	0.75469	5.006000	0.63978	2.134000	0.65973	0.459000	0.35465	AAT		0.577	STAT3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319353.3	NM_139276, NM_003150		5	136	0	0	0	1	0	5	136					C	40477031	T	C	40477031	3	2	237	1	0	0	0	0	1	0	0	0	15265	1841	64	4	934	4	STAT3	17	40477031	Missense_Mutation	SNP	T	TCGA-HC-8265-01A-11D-2260-08	881433	40477031	40718179	75	11079											
CNTNAP1	8506	broad.mit.edu	37	chr17	40847632	40847632	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagttctcccacatgctgaGccggccagtgccaggctatg	7	8	13	13	1	1	1	0	1	1	0	2	2	1	2	4	3	3	3	4	3	1	2			TCGA-HC-8265-01A-11D-2260-08	TCGA-HC-8265-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d96380bd-80d2-4c64-ae3f-6f886936204e	ece936c5-0f53-4010-9e99-8091c679d15b	g.chr17:40847632G>T	ENST00000264638.4	+	19	3303	c.3086G>T	c.(3085-3087)aGc>aTc	p.S1029I	CTD-3193K9.3_ENST00000592440.1_RNA	NM_003632.2	NP_003623.1	P78357	CNTP1_HUMAN	contactin associated protein 1	1029					axon cargo transport (GO:0008088)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cytoskeleton organization (GO:0007010)|neuromuscular process controlling balance (GO:0050885)|neuromuscular process controlling posture (GO:0050884)|neuron projection morphogenesis (GO:0048812)|neuronal action potential propagation (GO:0019227)|paranodal junction assembly (GO:0030913)|positive regulation of signal transduction (GO:0009967)|protein localization to paranode region of axon (GO:0002175)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|paranode region of axon (GO:0033270)|voltage-gated potassium channel complex (GO:0008076)	receptor activity (GO:0004872)|SH3 domain binding (GO:0017124)|SH3/SH2 adaptor activity (GO:0005070)	p.S1029I(1)		NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|lung(15)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.143)		CACATGCTGAGCCGGCCAGTG	0.617																																						ENST00000264638.4																			1	Substitution - Missense(1)	p.S1029I(1)	lung(1)	NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|lung(15)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						c.(3085-3087)aGc>aTc		contactin associated protein 1							46	48	47					17																	40847632		2202	4300	6502	SO:0001583	missense	8506				axon guidance|cell adhesion	paranode region of axon	receptor activity|receptor binding|SH3 domain binding|SH3/SH2 adaptor activity	g.chr17:40847632G>T	U87223	CCDS11436.1	17q21	2008-07-18				ENSG00000108797			8011	protein-coding gene	gene with protein product	"neurexin 4"	602346		NRXN4		9118959	Standard	NM_003632		Approved	p190, Caspr, CNTNAP	uc002iay.3	P78357		ENST00000264638.4:c.3086G>T	17.37:g.40847632G>T	ENSP00000264638:p.Ser1029Ile					CTD-3193K9.3_ENST00000592440.1_RNA	p.S1029I	NM_003632.2	NP_003623.1	P78357	CNTP1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.143)	19	3303	+		Breast(137;0.000143)	1029						Missense_Mutation	SNP	ENST00000264638.4	37	c.3086G>T	CCDS11436.1	.	.	.	.	.	.	.	.	.	.	G	15.11	2.737350	0.49045	.	.	ENSG00000108797	ENST00000264638	D	0.90504	-2.68	4.99	4.02	0.46733	Concanavalin A-like lectin/glucanase (1);	0.000000	0.85682	D	0.000000	T	0.80105	0.4562	N	0.14661	0.345	0.36034	D	0.839592	B	0.19073	0.033	B	0.14023	0.01	T	0.75897	-0.3155	10	0.22109	T	0.4	.	9.4603	0.38781	0.0961:0.0:0.9039:0.0	.	1029	P78357	CNTP1_HUMAN	I	1029	ENSP00000264638:S1029I	ENSP00000264638:S1029I	S	+	2	0	CNTNAP1	38101158	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	3.388000	0.52509	1.316000	0.45131	0.655000	0.94253	AGC		0.617	CNTNAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452342.1	NM_003632		7	76	1	0	0.27861	1	0.283917	7	76					T	40847632	G	T	40847632	3	4	237	1	0	0	0	0	1	0	0	0	3646	971	34	5	3160	5	CNTNAP1	17	40847632	Missense_Mutation	SNP	G	TCGA-HC-8265-01A-11D-2260-08	370601	40847632	40347578	76	11080											
ABCC3	8714	broad.mit.edu	37	chr17	48741453	48741453	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acccctgcagatcatcctggCgatctacttcctctggcagg	7	10	9	15	1	3	1	1	0	2	1	5	2	5	1	4	3	2	2	4	3	1	2	rs201203647	byFrequency	TCGA-HC-8265-01A-11D-2260-08	TCGA-HC-8265-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d96380bd-80d2-4c64-ae3f-6f886936204e	ece936c5-0f53-4010-9e99-8091c679d15b	g.chr17:48741453C>T	ENST00000285238.8	+	10	1399	c.1319C>T	c.(1318-1320)gCg>gTg	p.A440V	ABCC3_ENST00000427699.1_Missense_Mutation_p.A440V	NM_003786.3	NP_003777.2	O15438	MRP3_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 3	440	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33			BRCA - Breast invasive adenocarcinoma(22;3.05e-09)		Cisplatin(DB00515)|Clotrimazole(DB00257)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Doxorubicin(DB00997)|Etoposide(DB00773)|Ezetimibe(DB00973)|Fluorouracil(DB00544)|Folic Acid(DB00158)|Gadoxetate(DB08884)|Glutathione(DB00143)|Glyburide(DB01016)|Indomethacin(DB00328)|Lamivudine(DB00709)|Leucovorin(DB00650)|Methotrexate(DB00563)|Metyrapone(DB01011)|Nifedipine(DB01115)|Omeprazole(DB00338)|Phenobarbital(DB01174)|Probenecid(DB01032)|Rifampicin(DB01045)|Sulfinpyrazone(DB01138)|Verapamil(DB00661)|Vincristine(DB00541)	ATCATCCTGGCGATCTACTTC	0.552													C|||	2	0.000399361	0	0.0014	5008	,	,		20814	0		0.001	False		,,,				2504	0					ENST00000285238.8																			0				breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33						c.(1318-1320)gCg>gTg		ATP-binding cassette, sub-family C (CFTR/MRP), member 3	Glibenclamide(DB01016)						119	106	110					17																	48741453		2203	4300	6503	SO:0001583	missense	8714				bile acid metabolic process	integral to plasma membrane|membrane fraction	ATP binding|bile acid-exporting ATPase activity|organic anion transmembrane transporter activity	g.chr17:48741453C>T	Y17151	CCDS32681.1, CCDS45739.1	17q21	2012-03-14			ENSG00000108846	ENSG00000108846		"ATP binding cassette transporters / subfamily C"	54	protein-coding gene	gene with protein product	"canalicular multispecific organic anion transporter 2"	604323				8894702, 9827529	Standard	NM_003786		Approved	MRP3, cMOAT2, EST90757, MLP2, MOAT-D	uc002isl.3	O15438	OTTHUMG00000162245	ENST00000285238.8:c.1319C>T	17.37:g.48741453C>T	ENSP00000285238:p.Ala440Val					ABCC3_ENST00000427699.1_Missense_Mutation_p.A440V	p.A440V	NM_003786.3	NP_003777.2	O15438	MRP3_HUMAN	BRCA - Breast invasive adenocarcinoma(22;3.05e-09)		10	1399	+			440			ABC transmembrane type-1 1.		B2RPA9|D3DTX9|O60265|O60922|O75621|O95078|O95289|O95290|Q86X85|Q9UN52	Missense_Mutation	SNP	ENST00000285238.8	37	c.1319C>T	CCDS32681.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	26.4	4.737240	0.89482	.	.	ENSG00000108846	ENST00000427699;ENST00000285238	D;D	0.89746	-2.56;-2.56	4.71	4.71	0.59529	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.000000	0.85682	D	0.000000	D	0.94401	0.8199	M	0.77712	2.385	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.969	D	0.95110	0.8237	10	0.87932	D	0	-13.4845	17.8382	0.88707	0.0:1.0:0.0:0.0	.	440;440	O15438;O15438-5	MRP3_HUMAN;.	V	440	ENSP00000395160:A440V;ENSP00000285238:A440V	ENSP00000285238:A440V	A	+	2	0	ABCC3	46096452	1.000000	0.71417	0.944000	0.38274	0.686000	0.39977	7.605000	0.82844	2.420000	0.82092	0.591000	0.81541	GCG		0.552	ABCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368083.2	NM_020038		7	131	0	0	0	1	0	7	131					T	48741453	C	T	48741453	3	4	237	1	0	0	0	0	1	0	0	0	54	768	27	1	1357	1	ABCC3	17	48741453	Missense_Mutation	SNP	C	TCGA-HC-8265-01A-11D-2260-08	7893821	48741453	32453757	77	11081											
SECTM1	6398	broad.mit.edu	37	chr17	80282491	80282491	+	Nonsense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtgacttgtctgttatttcTctggtgtcccacgaggtgcc	4	15	11	11	2	2	1	0	1	2	0	4	2	3	1	2	2	1	1	2	2	1	3			TCGA-HC-8265-01A-11D-2260-08	TCGA-HC-8265-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d96380bd-80d2-4c64-ae3f-6f886936204e	ece936c5-0f53-4010-9e99-8091c679d15b	g.chr17:80282491T>A	ENST00000269389.3	-	3	720	c.370A>T	c.(370-372)Aga>Tga	p.R124*	SECTM1_ENST00000580437.1_Nonsense_Mutation_p.R124*	NM_003004.2	NP_002995.1	Q8WVN6	SCTM1_HUMAN	secreted and transmembrane 1	124					immune response (GO:0006955)|mesoderm development (GO:0007498)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cytokine activity (GO:0005125)|signal transducer activity (GO:0004871)			endometrium(1)|large_intestine(2)|lung(1)	4	Breast(20;0.000675)|all_neural(118;0.0804)|Lung NSC(278;0.128)|all_lung(278;0.145)|Ovarian(332;0.249)		OV - Ovarian serous cystadenocarcinoma(97;0.00928)|BRCA - Breast invasive adenocarcinoma(99;0.0833)			CTGTTATTTCTCTGGTGTCCC	0.642																																						ENST00000269389.3																			0				endometrium(1)|large_intestine(2)|lung(1)	4						c.(370-372)Aga>Tga		secreted and transmembrane 1							60	54	56					17																	80282491		2203	4300	6503	SO:0001587	stop_gained	6398				immune response|mesoderm development|positive regulation of I-kappaB kinase/NF-kappaB cascade	extracellular space|Golgi apparatus|integral to membrane|plasma membrane	cytokine activity|signal transducer activity	g.chr17:80282491T>A	U77643	CCDS11808.1	17q25	2008-07-18				ENSG00000141574			10707	protein-coding gene	gene with protein product	"K12 protein", "type 1a transmembrane protein"	602602				9480746	Standard	NM_003004		Approved	K12	uc002keo.3	Q8WVN6		ENST00000269389.3:c.370A>T	17.37:g.80282491T>A	ENSP00000269389:p.Arg124*					SECTM1_ENST00000580437.1_Nonsense_Mutation_p.R124*	p.R124*	NM_003004.2	NP_002995.1	Q8WVN6	SCTM1_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.00928)|BRCA - Breast invasive adenocarcinoma(99;0.0833)		3	720	-	Breast(20;0.000675)|all_neural(118;0.0804)|Lung NSC(278;0.128)|all_lung(278;0.145)|Ovarian(332;0.249)		124					B2R7H0|O00466	Nonsense_Mutation	SNP	ENST00000269389.3	37	c.370A>T	CCDS11808.1	.	.	.	.	.	.	.	.	.	.	T	19.82	3.897957	0.72639	.	.	ENSG00000141574	ENST00000269389	.	.	.	3.6	-4.98	0.03019	.	.	.	.	.	.	.	.	.	.	.	0.49299	A	0.999779	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	0.1528	0.00095	0.3149:0.2119:0.146:0.3272	.	.	.	.	X	124	.	ENSP00000269389:R124X	R	-	1	2	SECTM1	77875780	0.008000	0.16893	0.001000	0.08648	0.095000	0.18619	-0.489000	0.06490	-1.089000	0.03073	0.372000	0.22366	AGA		0.642	SECTM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442856.1	NM_003004		3	66	0	0	0	1	0	3	66					A	80282491	T	A	80282491	4	1	237	1	0	0	0	0	0	1	0	0	14008	1559	54	5	388	5	SECTM1	17	80282491	Nonsense_Mutation	SNP	T	TCGA-HC-8265-01A-11D-2260-08	31541038	80282491	912719	78	11082											
C18orf8	29919	broad.mit.edu	37	chr18	21098913	21098913	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tcggacctccaacagcacagGagcggaggtggtcctctatc	9	7	12	13	2	1	0	0	0	1	0	5	3	3	3	3	5	3	1	3	5	2	1			TCGA-HC-8265-01A-11D-2260-08	TCGA-HC-8265-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d96380bd-80d2-4c64-ae3f-6f886936204e	ece936c5-0f53-4010-9e99-8091c679d15b	g.chr18:21098913G>T	ENST00000269221.3	+	8	823	c.713G>T	c.(712-714)gGa>gTa	p.G238V	C18orf8_ENST00000590868.1_Missense_Mutation_p.G190V	NM_013326.3	NP_037458.3	Q96DM3	MIC1_HUMAN	chromosome 18 open reading frame 8	238						lysosomal membrane (GO:0005765)		p.G238V(1)		endometrium(9)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	21	all_cancers(21;0.000122)|all_epithelial(16;8.08e-07)|Lung NSC(20;0.00206)|all_lung(20;0.00659)|Colorectal(14;0.0202)|Ovarian(20;0.127)					AACAGCACAGGAGCGGAGGTG	0.438																																						ENST00000269221.3																			1	Substitution - Missense(1)	p.G238V(1)	endometrium(1)	endometrium(9)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	21						c.(712-714)gGa>gTa		chromosome 18 open reading frame 8							159	153	155					18																	21098913		2203	4300	6503	SO:0001583	missense	29919							g.chr18:21098913G>T	AK057192	CCDS32803.1, CCDS74199.1	18q11.2	2013-12-13			ENSG00000141452	ENSG00000141452			24326	protein-coding gene	gene with protein product	"colon cancer associated protein Mic1", "macrophage inhibitory cytokine 1"					12477932	Standard	NM_013326		Approved	MIC1, MIC-1, HsT2591	uc021uie.2	Q96DM3		ENST00000269221.3:c.713G>T	18.37:g.21098913G>T	ENSP00000269221:p.Gly238Val					C18orf8_ENST00000590868.1_Missense_Mutation_p.G190V	p.G238V	NM_013326.3	NP_037458.3	Q96DM3	MIC1_HUMAN			8	823	+	all_cancers(21;0.000122)|all_epithelial(16;8.08e-07)|Lung NSC(20;0.00206)|all_lung(20;0.00659)|Colorectal(14;0.0202)|Ovarian(20;0.127)		238					Q9BU17|Q9Y5M0	Missense_Mutation	SNP	ENST00000269221.3	37	c.713G>T	CCDS32803.1	.	.	.	.	.	.	.	.	.	.	G	28.7	4.943251	0.92593	.	.	ENSG00000141452	ENST00000269221;ENST00000544799;ENST00000540942;ENST00000542734	.	.	.	5.52	5.52	0.82312	.	0.051036	0.85682	D	0.000000	T	0.75766	0.3894	M	0.71581	2.175	0.80722	D	1	D;D	0.63046	0.986;0.992	P;P	0.59825	0.734;0.864	T	0.72127	-0.4384	9	0.27785	T	0.31	-3.193	19.4282	0.94754	0.0:0.0:1.0:0.0	.	238;190	Q96DM3;F5H2W0	MIC1_HUMAN;.	V	238;81;190;81	.	ENSP00000269221:G238V	G	+	2	0	C18orf8	19352911	1.000000	0.71417	0.736000	0.30914	0.988000	0.76386	9.452000	0.97615	2.599000	0.87857	0.491000	0.48974	GGA		0.438	C18orf8-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445386.1	NM_013326		14	46	1	0	3.45872e-05	1	3.73821e-05	14	46					T	21098913	G	T	21098913	3	4	237	1	0	0	0	0	1	0	0	0	1907	1174	41	5	743	5	C18orf8	18	21098913	Missense_Mutation	SNP	G	TCGA-HC-8265-01A-11D-2260-08		21098913	56978335	79	11083											
NCAN	1463	broad.mit.edu	37	chr19	19338463	19338463	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gctgcagagaccaaggtgtaTtccctgcctctctctttgac	7	12	9	13	0	2	2	0	1	2	1	4	3	3	2	3	1	2	3	3	1	2	3	rs576135458		TCGA-HC-8265-01A-11D-2260-08	TCGA-HC-8265-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d96380bd-80d2-4c64-ae3f-6f886936204e	ece936c5-0f53-4010-9e99-8091c679d15b	g.chr19:19338463T>C	ENST00000252575.6	+	8	2133	c.2034T>C	c.(2032-2034)taT>taC	p.Y678Y	NCAN_ENST00000538881.1_Silent_p.Y129Y	NM_004386.2	NP_004377.2	O14594	NCAN_HUMAN	neurocan	678					axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|regulation of synapse structural plasticity (GO:0051823)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|hyaluronic acid binding (GO:0005540)			breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64			Epithelial(12;0.00544)		Hyaluronan(DB08818)	CCAAGGTGTATTCCCTGCCTC	0.617													T|||	1	0.000199681	8e-04	0	5008	,	,		18248	0		0	False		,,,				2504	0					ENST00000252575.5																			0				breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64						c.(2032-2034)taT>taC		neurocan							93	97	96					19																	19338463		2203	4300	6503	SO:0001819	synonymous_variant	1463				axon guidance|cell adhesion	extracellular region	calcium ion binding|hyaluronic acid binding|sugar binding	g.chr19:19338463T>C	AF026547	CCDS12397.1	19p12	2014-01-30	2007-02-15	2007-02-15	ENSG00000130287	ENSG00000130287		"Immunoglobulin superfamily / V-set domain containing", "Proteoglycans / Extracellular Matrix : Hyalectans", "Endogenous ligands"	2465	protein-coding gene	gene with protein product	"neurocan proteoglycan"	600826	"chondroitin sulfate proteoglycan 3"	CSPG3		1326557, 21353194	Standard	NM_004386		Approved		uc002nlz.3	O14594		ENST00000252575.6:c.2034T>C	19.37:g.19338463T>C						NCAN_ENST00000538881.1_Silent_p.Y129Y	p.Y678Y	NM_004386.2	NP_004377.2	O14594	NCAN_HUMAN	Epithelial(12;0.00544)		8	2077	+			678					Q9UPK6	Silent	SNP	ENST00000252575.6	37	c.2034T>C	CCDS12397.1																																																																																				0.617	NCAN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460111.2	NM_004386		6	200	0	0	0	1	0	6	200					C	19338463	T	C	19338463	2	2	237	1	0	0	0	0	0	0	0	1	10204	1500	52	4		4	NCAN	19	19338463	Silent	SNP	T	TCGA-HC-8265-01A-11D-2260-08		19338463	39790520	80	11084											
MAG	4099	broad.mit.edu	37	chr19	35786682	35786682	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	taccccaagaactaccccccGgtggtcttcaagtcgcgcac	9	7	8	17	3	2	1	1	0	1	1	3	1	2	1	5	2	3	1	5	2	5	3	rs199750254		TCGA-HC-8265-01A-11D-2260-08	TCGA-HC-8265-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d96380bd-80d2-4c64-ae3f-6f886936204e	ece936c5-0f53-4010-9e99-8091c679d15b	g.chr19:35786682G>A	ENST00000392213.3	+	4	372	c.213G>A	c.(211-213)ccG>ccA	p.P71P	MAG_ENST00000537831.2_Silent_p.P46P|MAG_ENST00000597035.1_Intron|MAG_ENST00000361922.4_Silent_p.P71P	NM_002361.3	NP_002352.1	P20916	MAG_HUMAN	myelin associated glycoprotein	71	Ig-like V-type.				blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|leukocyte migration (GO:0050900)|negative regulation of axonogenesis (GO:0050771)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of axonogenesis (GO:0050770)|substantia nigra development (GO:0021762)	integral component of membrane (GO:0016021)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|Schmidt-Lanterman incisure (GO:0043220)	carbohydrate binding (GO:0030246)	p.P71P(2)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(11)|skin(2)|upper_aerodigestive_tract(2)	34	all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162)	Renal(1328;0.242)	Epithelial(14;3.14e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.5e-18)|all cancers(14;1.5e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)			ACTACCCCCCGGTGGTCTTCA	0.637													G|||	1	0.000199681	0	0	5008	,	,		16243	0		0	False		,,,				2504	0.001					ENST00000361922.4																			2	Substitution - coding silent(2)	p.P71P(2)	endometrium(2)	NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(11)|skin(2)|upper_aerodigestive_tract(2)	34						c.(211-213)ccG>ccA		myelin associated glycoprotein							85	95	91					19																	35786682		2203	4300	6503	SO:0001819	synonymous_variant	4099				blood coagulation|cell adhesion|leukocyte migration|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway	integral to membrane|plasma membrane	sugar binding	g.chr19:35786682G>A	M29273	CCDS12455.1, CCDS12456.1, CCDS56090.1	19q13.1	2013-01-29			ENSG00000105695	ENSG00000105695		"Sialic acid binding Ig-like lectins", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6783	protein-coding gene	gene with protein product	"sialic acid binding Ig-like lectin 4A"	159460		GMA		2476987, 8432525	Standard	NM_080600		Approved	SIGLEC4A, SIGLEC-4A, S-MAG	uc002nyy.2	P20916		ENST00000392213.3:c.213G>A	19.37:g.35786682G>A						MAG_ENST00000392213.3_Silent_p.P71P|MAG_ENST00000537831.2_Silent_p.P46P|MAG_ENST00000597035.1_Intron	p.P71P	NM_080600.2	NP_542167.1	P20916	MAG_HUMAN	Epithelial(14;3.14e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.5e-18)|all cancers(14;1.5e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)		4	363	+	all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162)	Renal(1328;0.242)	71			Ig-like V-type.		B7Z2E5|F5GYC0|Q567S4	Silent	SNP	ENST00000392213.3	37	c.213G>A	CCDS12455.1																																																																																				0.637	MAG-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000466071.1	NM_080600		10	203	0	0	0	1	0	10	203					A	35786682	G	A	35786682	2	1	237	1	0	0	0	0	0	0	0	1	9162	1103	39	2		2	MAG	19	35786682	Silent	SNP	G	TCGA-HC-8265-01A-11D-2260-08	16448219	35786682	23342301	81	11085											
FCGBP	8857	broad.mit.edu	37	chr19	40411866	40411866	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgtagtgggggtctcctgaCgcctggcaggtgctagagcc	5	9	17	10	1	1	2	0	1	1	1	2	2	1	2	3	4	2	3	3	4	2	2	rs144633711		TCGA-HC-8265-01A-11D-2260-08	TCGA-HC-8265-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d96380bd-80d2-4c64-ae3f-6f886936204e	ece936c5-0f53-4010-9e99-8091c679d15b	g.chr19:40411866C>T	ENST00000221347.6	-	7	3769	c.3762G>A	c.(3760-3762)gcG>gcA	p.A1254A		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	1254	VWFD 3. {ECO:0000255|PROSITE- ProRule:PRU00580}.					extracellular vesicular exosome (GO:0070062)				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			GGTCTCCTGACGCCTGGCAGG	0.677																																						ENST00000221347.6																			0				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165						c.(3760-3762)gcG>gcA		Fc fragment of IgG binding protein		C		1,4405	2.1+/-5.4	0,1,2202	79	69	72		3762	-9.1	0	19	dbSNP_134	72	0,8600		0,0,4300	no	coding-synonymous	FCGBP	NM_003890.2		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		1254/5406	40411866	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	8857					extracellular region	protein binding	g.chr19:40411866C>T	D84239		19q13.2	2013-09-20			ENSG00000090920	ENSG00000275395			13572	protein-coding gene	gene with protein product	"IgG Fc binding protein", "Human Fc gamma BP"					9182547	Standard	NM_003890		Approved	FC(GAMMA)BP	uc002omp.4	Q9Y6R7	OTTHUMG00000182580	ENST00000221347.6:c.3762G>A	19.37:g.40411866C>T							p.A1254A	NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)		7	3769	-	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		1254			VWFD 3.		O95784	Silent	SNP	ENST00000221347.6	37	c.3762G>A	CCDS12546.1																																																																																				0.677	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462507.1	NM_003890		17	58	0	0	0	1	0	17	58					T	40411866	C	T	40411866	2	4	237	1	0	0	0	0	0	0	0	1	5778	523	19	1		1	FCGBP	19	40411866	Silent	SNP	C	TCGA-HC-8265-01A-11D-2260-08	4625184	40411866	18717117	82	11086											
ZNF154	7710	broad.mit.edu	37	chr19	58213660	58213660	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aataattttccacattcatcAcattcatgaggtcgtactgc	12	14	5	10	1	3	1	3	1	0	0	5	1	4	1	1	1	2	1	1	1	3	6			TCGA-HC-8265-01A-11D-2260-08	TCGA-HC-8265-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d96380bd-80d2-4c64-ae3f-6f886936204e	ece936c5-0f53-4010-9e99-8091c679d15b	g.chr19:58213660A>G	ENST00000512439.2	-	3	853	c.657T>C	c.(655-657)tgT>tgC	p.C219C	AC003006.7_ENST00000599221.1_Intron|AC003006.7_ENST00000594684.1_Intron|ZNF551_ENST00000596085.1_Intron|ZNF154_ENST00000426889.1_Silent_p.C219C			Q13106	ZN154_HUMAN	zinc finger protein 154	219					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|kidney(1)|large_intestine(7)|lung(3)	12		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		CACATTCATCACATTCATGAG	0.433																																						ENST00000512439.2																			0				endometrium(1)|kidney(1)|large_intestine(7)|lung(3)	12						c.(655-657)tgT>tgC		zinc finger protein 154							92	92	92					19																	58213660		2197	4300	6497	SO:0001819	synonymous_variant	7710					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:58213660A>G	U20648	CCDS42639.1	19q13.4	2013-01-08	2006-08-22		ENSG00000179909	ENSG00000179909		"Zinc fingers, C2H2-type", "-"	12939	protein-coding gene	gene with protein product		604085	"zinc finger protein 154 (pHZ-92)"			7557990	Standard	XR_243957		Approved	pHZ-92	uc010euf.3	Q13106	OTTHUMG00000140375	ENST00000512439.2:c.657T>C	19.37:g.58213660A>G						ZNF154_ENST00000426889.1_Silent_p.C219C|AC003006.7_ENST00000599221.1_Intron|AC003006.7_ENST00000596085.1_Intron	p.C219C			Q13106	ZN154_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)	3	853	-		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)	219					A7MCY3|Q8IVG7|Q8NAR0	Silent	SNP	ENST00000512439.2	37	c.657T>C	CCDS42639.1																																																																																				0.433	ZNF154-002	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277102.2			34	73	0	0	0	1	0	34	73					G	58213660	A	G	58213660	2	3	237	1	0	0	0	0	0	0	0	1	17732	157	6	4		4	ZNF154	19	58213660	Silent	SNP	A	TCGA-HC-8265-01A-11D-2260-08	17801794	58213660	915323	83	11087											
IFT52	51098	broad.mit.edu	37	chr20	42265850	42265850	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctatttgatttagatgaaacGttctcctctgagaaggcacg	11	13	9	8	2	2	4	0	3	2	2	3	5	2	4	1	1	1	2	1	1	4	5			TCGA-HC-8265-01A-11D-2260-08	TCGA-HC-8265-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d96380bd-80d2-4c64-ae3f-6f886936204e	ece936c5-0f53-4010-9e99-8091c679d15b	g.chr20:42265850G>A	ENST00000373030.3	+	12	1207	c.1077G>A	c.(1075-1077)acG>acA	p.T359T	IFT52_ENST00000373039.4_Silent_p.T359T	NM_016004.2	NP_057088.2	Q9Y366	IFT52_HUMAN	intraflagellar transport 52	359					cilium morphogenesis (GO:0060271)|dorsal/ventral pattern formation (GO:0009953)|embryonic digit morphogenesis (GO:0042733)|heart looping (GO:0001947)|intraciliary transport (GO:0042073)|negative regulation of epithelial cell proliferation (GO:0050680)|neural tube formation (GO:0001841)|regulation of protein processing (GO:0070613)|smoothened signaling pathway (GO:0007224)	centriole (GO:0005814)|ciliary base (GO:0097546)|ciliary tip (GO:0097542)|cilium (GO:0005929)|dendrite terminus (GO:0044292)|intraciliary transport particle B (GO:0030992)|motile cilium (GO:0031514)|photoreceptor connecting cilium (GO:0032391)	protein C-terminus binding (GO:0008022)			endometrium(5)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)|urinary_tract(1)	21		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			TAGATGAAACGTTCTCCTCTG	0.418																																						ENST00000373030.3																			0				endometrium(5)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)|urinary_tract(1)	21						c.(1075-1077)acG>acA		intraflagellar transport 52 homolog (Chlamydomonas)							85	85	85					20																	42265850		2203	4300	6503	SO:0001819	synonymous_variant	51098					intraflagellar transport particle B|microtubule-based flagellum	protein C-terminus binding	g.chr20:42265850G>A	AF151811	CCDS33470.1	20q12-q13.1	2014-07-03	2014-07-03	2005-11-02	ENSG00000101052	ENSG00000101052		"Intraflagellar transport homologs"	15901	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 9", "intraflagellar transport 52 homolog (Chlamydomonas)"	C20orf9		10810093	Standard	NM_016004		Approved	CGI-53, NGD5, dJ1028D15.1, NGD2	uc002xkw.3	Q9Y366	OTTHUMG00000032513	ENST00000373030.3:c.1077G>A	20.37:g.42265850G>A						IFT52_ENST00000373039.4_Silent_p.T359T	p.T359T	NM_016004.2	NP_057088.2	Q9Y366	IFT52_HUMAN	COAD - Colon adenocarcinoma(18;0.0031)		12	1207	+		Myeloproliferative disorder(115;0.00452)	359					B3KMA1|E1P5W9|Q5H8Z0|Q9H1G3|Q9H1G4|Q9H1H2	Silent	SNP	ENST00000373030.3	37	c.1077G>A	CCDS33470.1																																																																																				0.418	IFT52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079317.1	NM_016004		24	53	0	0	0	1	0	24	53					A	42265850	G	A	42265850	2	1	237	1	0	0	0	0	0	0	0	1	7561	1132	40	1		1	IFT52	20	42265850	Silent	SNP	G	TCGA-HC-8265-01A-11D-2260-08		42265850	20759670	84	11088											
WFDC10A	140832	broad.mit.edu	37	chr20	44258532	44258532	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gggaggataccgtgacaagaAgaggatgcagagtaggtgat	14	6	17	4	1	0	5	0	2	0	3	0	8	0	8	1	4	2	2	1	4	4	2			TCGA-HC-8265-01A-11D-2260-08	TCGA-HC-8265-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d96380bd-80d2-4c64-ae3f-6f886936204e	ece936c5-0f53-4010-9e99-8091c679d15b	g.chr20:44258532A>T	ENST00000372643.3	+	1	368	c.80A>T	c.(79-81)aAg>aTg	p.K27M	WFDC9_ENST00000326000.1_Intron	NM_080753.2	NP_542791.1	Q9H1F0	WF10A_HUMAN	WAP four-disulfide core domain 10A	27						extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)			large_intestine(2)	2		Myeloproliferative disorder(115;0.0122)				CGTGACAAGAAGAGGATGCAG	0.587											OREG0025983	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000372643.3																			0				large_intestine(2)	2						c.(79-81)aAg>aTg		WAP four-disulfide core domain 10A							164	128	140					20																	44258532		2203	4300	6503	SO:0001583	missense	140832					extracellular region	serine-type endopeptidase inhibitor activity	g.chr20:44258532A>T	AL031671	CCDS13363.1	20q13.11	2013-01-21	2003-02-21	2003-02-21	ENSG00000180305	ENSG00000180305		"WAP four-disulfide core domain containing"	16139	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 146"	C20orf146		12206714	Standard	NM_080753		Approved	dJ688G8.3, WAP10	uc002xoz.3	Q9H1F0	OTTHUMG00000046331	ENST00000372643.3:c.80A>T	20.37:g.44258532A>T	ENSP00000361726:p.Lys27Met		OREG0025983	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	922	WFDC9_ENST00000326000.1_Intron	p.K27M	NM_080753.2	NP_542791.1	Q9H1F0	WF10A_HUMAN			1	368	+		Myeloproliferative disorder(115;0.0122)	27					A2RRE9|Q5TGZ7	Missense_Mutation	SNP	ENST00000372643.3	37	c.80A>T	CCDS13363.1	.	.	.	.	.	.	.	.	.	.	A	10.60	1.394655	0.25205	.	.	ENSG00000180305	ENST00000372643	T	0.20069	2.1	2.43	-1.2	0.09554	.	3.060220	0.01594	N	0.021727	T	0.26159	0.0638	.	.	.	0.09310	N	1	D	0.69078	0.997	P	0.53912	0.737	T	0.11542	-1.0583	9	0.37606	T	0.19	.	2.1255	0.03737	0.4267:0.0:0.3261:0.2472	.	27	Q9H1F0	WF10A_HUMAN	M	27	ENSP00000361726:K27M	ENSP00000361726:K27M	K	+	2	0	WFDC10A	43691946	0.000000	0.05858	0.000000	0.03702	0.101000	0.19017	-0.356000	0.07661	-0.311000	0.08754	-0.274000	0.10170	AAG		0.587	WFDC10A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106944.2			3	48	0	0	0	1	0	3	48					T	44258532	A	T	44258532	3	4	237	1	0	0	0	0	1	0	0	0	17344	72	3	5	82	5	WFDC10A	20	44258532	Missense_Mutation	SNP	A	TCGA-HC-8265-01A-11D-2260-08	1992682	44258532	18766988	85	11089											
FGD1	2245	broad.mit.edu	37	chrX	54481902	54481902	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tggcctggagctcgagggagCgctgctttcctgacaccagg	6	8	15	12	2	0	1	0	1	0	0	2	4	1	3	3	4	3	3	3	4	0	1			TCGA-HC-8265-01A-11D-2260-08	TCGA-HC-8265-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d96380bd-80d2-4c64-ae3f-6f886936204e	ece936c5-0f53-4010-9e99-8091c679d15b	g.chrX:54481902C>T	ENST00000375135.3	-	12	2727	c.1994G>A	c.(1993-1995)cGc>cAc	p.R665H		NM_004463.2	NP_004454.2	P98174	FGD1_HUMAN	FYVE, RhoGEF and PH domain containing 1	665	PH 1. {ECO:0000255|PROSITE- ProRule:PRU00145}.				actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|ruffle (GO:0001726)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|small GTPase binding (GO:0031267)	p.R665L(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(8)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						CTCGAGGGAGCGCTGCTTTCC	0.557																																						ENST00000375135.3																			1	Substitution - Missense(1)	p.R665L(1)	lung(1)	NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(8)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						c.(1993-1995)cGc>cAc		FYVE, RhoGEF and PH domain containing 1							120	87	98					X																	54481902		2203	4300	6503	SO:0001583	missense	2245				actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|organ morphogenesis|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|Golgi apparatus|lamellipodium|nucleus|plasma membrane|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding	g.chrX:54481902C>T	U11690	CCDS14359.1	Xp11.21	2013-01-10	2008-08-01		ENSG00000102302	ENSG00000102302		"Zinc fingers, FYVE domain containing", "Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	3663	protein-coding gene	gene with protein product		300546	"faciogenital dysplasia (Aarskog-Scott syndrome)"	FGDY			Standard	NM_004463		Approved	ZFYVE3	uc004dtg.3	P98174	OTTHUMG00000021627	ENST00000375135.3:c.1994G>A	X.37:g.54481902C>T	ENSP00000364277:p.Arg665His						p.R665H	NM_004463.2	NP_004454.2	P98174	FGD1_HUMAN			12	2727	-			665			PH 1.		Q5H999|Q8N4D9	Missense_Mutation	SNP	ENST00000375135.3	37	c.1994G>A	CCDS14359.1	.	.	.	.	.	.	.	.	.	.	C	26.4	4.735400	0.89482	.	.	ENSG00000102302	ENST00000375135	D	0.89196	-2.48	5.01	5.01	0.66863	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.52532	D	0.000076	D	0.95211	0.8447	M	0.89414	3.03	0.50632	D	0.999882	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.993	D	0.96049	0.9030	10	0.87932	D	0	-6.9391	16.1456	0.81563	0.0:1.0:0.0:0.0	.	423;665	B4DS99;P98174	.;FGD1_HUMAN	H	665	ENSP00000364277:R665H	ENSP00000364277:R665H	R	-	2	0	FGD1	54498627	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.476000	0.66793	2.328000	0.79073	0.600000	0.82982	CGC		0.557	FGD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056801.1	NM_004463		6	16	0	0	0	1	0	6	16					T	54481902	C	T	54481902	3	4	237	1	0	0	0	0	1	0	0	0	5832	768	27	1	919	1	FGD1	23	54481902	Missense_Mutation	SNP	C	TCGA-HC-8265-01A-11D-2260-08		54481902	100788658	86	11090											
PCDH11X	27328	broad.mit.edu	37	chrX	91132587	91132587	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aacctcctttgaatcagtcaGcaatgctcttcatcaaagtg	12	12	6	11	0	5	1	4	1	1	0	6	1	6	1	2	0	3	2	2	0	4	2			TCGA-HC-8265-01A-11D-2260-08	TCGA-HC-8265-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d96380bd-80d2-4c64-ae3f-6f886936204e	ece936c5-0f53-4010-9e99-8091c679d15b	g.chrX:91132587G>A	ENST00000373094.1	+	2	2193	c.1348G>A	c.(1348-1350)Gca>Aca	p.A450T	PCDH11X_ENST00000298274.8_Missense_Mutation_p.A450T|PCDH11X_ENST00000373097.1_Missense_Mutation_p.A450T|PCDH11X_ENST00000361724.1_Missense_Mutation_p.A450T|PCDH11X_ENST00000504220.2_Missense_Mutation_p.A450T|PCDH11X_ENST00000373088.1_Missense_Mutation_p.A450T|PCDH11X_ENST00000406881.1_Missense_Mutation_p.A450T|PCDH11X_ENST00000395337.2_Missense_Mutation_p.A450T|PCDH11X_ENST00000361655.2_Missense_Mutation_p.A450T	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	450	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|negative regulation of phosphatase activity (GO:0010923)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						GAATCAGTCAGCAATGCTCTT	0.418																																					NSCLC(38;925 1092 2571 38200 45895)	ENST00000373094.1																			0				NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						c.(1348-1350)Gca>Aca		protocadherin 11 X-linked							48	45	46					X																	91132587		2202	4280	6482	SO:0001583	missense	27328				homophilic cell adhesion	integral to plasma membrane	calcium ion binding	g.chrX:91132587G>A	AB026187	CCDS14461.1, CCDS14462.1, CCDS55458.1, CCDS55459.1, CCDS55460.1, CCDS55461.1	Xq21.3	2014-06-13	2002-05-22	2002-05-24	ENSG00000102290	ENSG00000102290		"Cadherins / Protocadherins : Non-clustered"	8656	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 119"	300246	"protocadherin 11"	PCDH11		10644456	Standard	NM_001168360		Approved	PCDH-X, PCDHX, PPP1R119	uc004efm.2	Q9BZA7	OTTHUMG00000021965	ENST00000373094.1:c.1348G>A	X.37:g.91132587G>A	ENSP00000362186:p.Ala450Thr					PCDH11X_ENST00000298274.8_Missense_Mutation_p.A450T|PCDH11X_ENST00000395337.2_Missense_Mutation_p.A450T|PCDH11X_ENST00000373088.1_Missense_Mutation_p.A450T|PCDH11X_ENST00000406881.1_Missense_Mutation_p.A450T|PCDH11X_ENST00000373097.1_Missense_Mutation_p.A450T|PCDH11X_ENST00000504220.1_Missense_Mutation_p.A450T|PCDH11X_ENST00000361724.1_Missense_Mutation_p.A450T|PCDH11X_ENST00000361655.2_Missense_Mutation_p.A450T	p.A450T	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN			2	2193	+			450			Cadherin 4.		A6NIQ4|Q2TJH0|Q2TJH1|Q2TJH3|Q5JVZ0|Q70LR8|Q70LS7|Q70LS8|Q70LS9|Q70LT7|Q70LT8|Q70LT9|Q70LU0|Q70LU1|Q96RV4|Q96RW0|Q9BZA6|Q9H4E0|Q9P2M0|Q9P2X5	Missense_Mutation	SNP	ENST00000373094.1	37	c.1348G>A	CCDS14461.1	.	.	.	.	.	.	.	.	.	.	G	0.202	-1.043892	0.01997	.	.	ENSG00000102290	ENST00000395337;ENST00000373094;ENST00000373097;ENST00000361724;ENST00000373088;ENST00000504220;ENST00000361655;ENST00000406881;ENST00000356934;ENST00000298274	T;T;T;T;T;T;T;T;T	0.50548	0.74;0.74;0.74;0.74;0.74;0.74;0.74;0.74;0.74	5.38	-2.21	0.06973	Cadherin (4);Cadherin-like (1);	0.295695	0.36167	N	0.002750	T	0.24314	0.0589	N	0.16233	0.39	0.39530	D	0.96864	B;B;B;B;B;B;B;B	0.26002	0.043;0.01;0.115;0.115;0.115;0.139;0.043;0.017	B;B;B;B;B;B;B;B	0.27262	0.047;0.023;0.047;0.047;0.047;0.078;0.026;0.026	T	0.03910	-1.0993	10	0.21540	T	0.41	.	7.7803	0.29062	0.234:0.0:0.5609:0.2051	.	450;450;450;450;450;450;450;450	Q9BZA7-6;Q9BZA7-5;Q9BZA7-4;Q9BZA7-8;Q9BZA7-3;Q9BZA7;Q9BZA7-7;Q9BZA7-2	.;.;.;.;.;PC11X_HUMAN;.;.	T	450	ENSP00000378746:A450T;ENSP00000362186:A450T;ENSP00000362189:A450T;ENSP00000355040:A450T;ENSP00000362180:A450T;ENSP00000423762:A450T;ENSP00000355105:A450T;ENSP00000384758:A450T;ENSP00000298274:A450T	ENSP00000298274:A450T	A	+	1	0	PCDH11X	91019243	1.000000	0.71417	0.992000	0.48379	0.030000	0.12068	3.380000	0.52448	-0.105000	0.12132	-0.424000	0.05967	GCA		0.418	PCDH11X-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057436.1	NM_032969		32	21	0	0	0	1	0	32	21					A	91132587	G	A	91132587	3	1	237	1	0	0	0	0	1	0	0	0	11508	971	34	3	1354	3	PCDH11X	23	91132587	Missense_Mutation	SNP	G	TCGA-HC-8265-01A-11D-2260-08	36650685	91132587	64137973	87	11091											
CT45A5	441521	broad.mit.edu	37	chrX	134948025	134948025	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aggtcatctccagagaaattGctggtaacatttcctcccac	11	11	7	12	0	2	1	1	0	1	1	5	2	4	1	3	2	2	2	3	2	2	3			TCGA-HC-8265-01A-11D-2260-08	TCGA-HC-8265-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d96380bd-80d2-4c64-ae3f-6f886936204e	ece936c5-0f53-4010-9e99-8091c679d15b	g.chrX:134948025G>T	ENST00000463085.2	-	3	389	c.300C>A	c.(298-300)agC>agA	p.S100R	CT45A4_ENST00000420087.2_Intron|CT45A5_ENST00000491480.1_Missense_Mutation_p.S100R|CT45A5_ENST00000370724.3_Missense_Mutation_p.S100R			Q6NSH3	CT455_HUMAN	cancer/testis antigen family 45, member A5	100										endometrium(1)|large_intestine(2)|lung(6)	9						CAGAGAAATTGCTGGTAACAT	0.423																																						ENST00000370724.3																			0				endometrium(1)|large_intestine(2)|lung(6)	9						c.(298-300)agC>agA		cancer/testis antigen family 45, member A5							219	198	205					X																	134948025		2188	4272	6460	SO:0001583	missense	441521							g.chrX:134948025G>T	AY743713	CCDS35406.1	Xq26.3	2009-03-12				ENSG00000269586			33270	protein-coding gene	gene with protein product	"cancer/testis antigen CT45-5"	300796				15905330	Standard	XM_006724759		Approved	CT45-5, CT45.5	uc022ces.1	Q6NSH3		ENST00000463085.2:c.300C>A	X.37:g.134948025G>T	ENSP00000424778:p.Ser100Arg					CT45A5_ENST00000491480.1_Missense_Mutation_p.S100R|CT45A4_ENST00000420087.2_Intron	p.S100R	NM_001007551.3|NM_001172288.1	NP_001007552.1|NP_001165759.1	Q6NSH3	CT455_HUMAN			3	544	-			100					A8K842|B7ZMC5	Missense_Mutation	SNP	ENST00000463085.2	37	c.300C>A	CCDS35406.1	.	.	.	.	.	.	.	.	.	.	G	10.20	1.283792	0.23392	.	.	ENSG00000242284	ENST00000370724;ENST00000491480	T;T	0.46451	0.87;0.87	2.4	1.51	0.23008	.	0.905899	0.09611	N	0.778863	T	0.53738	0.1815	L	0.53249	1.67	0.09310	N	1	D	0.69078	0.997	D	0.75484	0.986	T	0.34502	-0.9826	10	0.51188	T	0.08	-2.6711	4.728	0.12950	0.2021:0.0:0.7979:0.0	.	100	Q6NSH3	CT455_HUMAN	R	100	ENSP00000359759:S100R;ENSP00000425997:S100R	ENSP00000359759:S100R	S	-	3	2	CT45A5	134775691	0.045000	0.20229	0.001000	0.08648	0.018000	0.09664	2.800000	0.47900	0.237000	0.21200	0.365000	0.22127	AGC		0.423	CT45A5-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000472589.1	NM_001007551		76	53	1	0	1.17954e-47	1	1.37185e-47	76	53					T	134948025	G	T	134948025	3	4	237	1	0	0	0	0	1	0	0	0	3988	1310	46	5	281	5	CT45A5	23	134948025	Missense_Mutation	SNP	G	TCGA-HC-8265-01A-11D-2260-08	43815438	134948025	20322535	88	11092											
MAGEC3	139081	broad.mit.edu	37	chrX	140969484	140969484	+	Frame_Shift_Del	DEL	C	C	-																															tgagtgatgagcagggcatgCcccagaaccgcctcctgatt																										TCGA-HC-8265-01A-11D-2260-08	TCGA-HC-8265-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d96380bd-80d2-4c64-ae3f-6f886936204e	ece936c5-0f53-4010-9e99-8091c679d15b	g.chrX:140969484delC	ENST00000298296.1	+	4	811	c.811delC	c.(811-813)cccfs	p.P271fs	MAGEC3_ENST00000443323.2_Intron|MAGEC3_ENST00000448920.1_Intron|MAGEC3_ENST00000536088.1_Intron	NM_138702.1	NP_619647.1	Q8TD91	MAGC3_HUMAN	melanoma antigen family C, 3	271	MAGE 1. {ECO:0000255|PROSITE- ProRule:PRU00127}.									NS(2)|breast(3)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|liver(1)|lung(32)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(2)	69	Acute lymphoblastic leukemia(192;6.56e-05)					GCAGGGCATGCCCCAGAACCG	0.498																																						ENST00000298296.1																			0				NS(2)|breast(3)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|liver(1)|lung(32)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(2)	69						c.(811-813)ccfs		melanoma antigen family C, 3							136	126	130					X																	140969484		2202	4300	6502	SO:0001589	frameshift_variant	139081							g.chrX:140969484delC	AF490508	CCDS14676.1, CCDS14677.1	Xq27.2	2009-03-25			ENSG00000165509	ENSG00000165509			23798	protein-coding gene	gene with protein product	"cancer/testis antigen family 7, member 2"	300469				10861452	Standard	NM_138702		Approved	HCA2, MAGE-C3, CT7.2	uc011mwp.2	Q8TD91	OTTHUMG00000022570	ENST00000298296.1:c.811delC	X.37:g.140969484delC	ENSP00000298296:p.Pro271fs					MAGEC3_ENST00000536088.1_Intron|MAGEC3_ENST00000448920.1_Intron|MAGEC3_ENST00000443323.2_Intron	p.P271fs	NM_138702.1	NP_619647.1	Q8TD91	MAGC3_HUMAN			4	811	+	Acute lymphoblastic leukemia(192;6.56e-05)		271			MAGE 1.		Q3SYA7|Q5JZ43|Q9BZ80	Frame_Shift_Del	DEL	ENST00000298296.1	37	c.811delC	CCDS14676.1																																																																																				0.498	MAGEC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058606.1	NM_138702		86	61						86	61	---	---	---	---	-	140969484	C	-	140969484	7	5	237	1	0	1	0	1	0	0	0	0	9182	739	26	0	825	0	MAGEC3	23	140969484	Frame_Shift_Del	DEL	C	TCGA-HC-8265-01A-11D-2260-08	6021459	140969484	14301076	89	11093											
SCNN1D	6339	broad.mit.edu	37	chr1	1222261	1222262	+	Frame_Shift_Ins	INS	-	-	C																															gccgccctctccgccactgtINScccccgccacgagcccccct																										TCGA-HC-8266-01A-11D-2260-08	TCGA-HC-8266-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79d05b35-8616-4147-af78-8bf33fa45499	ef3312fd-0ef1-4d54-9cea-4bf59a6ebf85	g.chr1:1222261_1222262insC	ENST00000338555.2	+	5	1677_1678	c.533_534insC	c.(532-537)gtccccfs	p.VP178fs	SCNN1D_ENST00000379116.5_Frame_Shift_Ins_p.VP342fs|SCNN1D_ENST00000400928.3_Frame_Shift_Ins_p.VP178fs|SCNN1D_ENST00000325425.8_Frame_Shift_Ins_p.VP244fs			P51172	SCNND_HUMAN	sodium channel, non-voltage-gated 1, delta subunit	178					ion transmembrane transport (GO:0034220)|response to stimulus (GO:0050896)|sensory perception of taste (GO:0050909)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	actin cytoskeleton (GO:0015629)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ligand-gated sodium channel activity (GO:0015280)			lung(6)|skin(1)	7	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;3.01e-35)|OV - Ovarian serous cystadenocarcinoma(86;2.46e-21)|Colorectal(212;0.000157)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00251)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.199)	Amiloride(DB00594)|Triamterene(DB00384)	TCCGCCACTGTCCCCCGCCACG	0.644																																						ENST00000338555.2																			0				lung(6)|skin(1)	7						c.(532-534)gccfs		sodium channel, non-voltage-gated 1, delta subunit																																				SO:0001589	frameshift_variant	6339							g.chr1:1222261_1222262insC	U38254	CCDS44037.1, CCDS44037.2	1p36.3-p36.2	2012-02-28	2012-02-28		ENSG00000162572	ENSG00000162572		"Ion channels / Sodium channel, nonvoltage-gated", "Sodium channels"	10601	protein-coding gene	gene with protein product		601328	"sodium channel, nonvoltage-gated 1, delta", "sodium channel, non-voltage-gated 1, delta"			8661065	Standard	NM_001130413		Approved	ENaCdelta, dNaCh	uc001adt.1	P51172	OTTHUMG00000002081	ENST00000338555.2:c.538dupC	1.37:g.1222266_1222266dupC	ENSP00000339504:p.Val178fs					SCNN1D_ENST00000325425.8_Frame_Shift_Ins_p.A244fs|SCNN1D_ENST00000379116.5_Frame_Shift_Ins_p.A342fs|SCNN1D_ENST00000400928.3_Frame_Shift_Ins_p.A178fs	p.A178fs						Epithelial(90;3.01e-35)|OV - Ovarian serous cystadenocarcinoma(86;2.46e-21)|Colorectal(212;0.000157)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00251)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.199)	5	1677_1678	+	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)						A9Z1X6|B1PS44|Q08AQ3|Q09HT0|Q5T7L3|Q8NA24	Frame_Shift_Ins	INS	ENST00000338555.2	37	c.533_534insC																																																																																					0.644	SCNN1D-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000005802.2	NM_002978		7	153						7	153	---	---	---	---	C	1222262	-	C	1222261	7	5	238	1	0	1	1	0	0	0	0	0	13929	1667	58	0	749	0	SCNN1D	1	1222261	Frame_Shift_Ins	INS	-	TCGA-HC-8266-01A-11D-2260-08		1222261	248028360	1	11094											
ARID1A	8289	broad.mit.edu	37	chr1	27023451	27023453	+	In_Frame_Del	DEL	GCG	GCG	-																															tggcctggcagcgctgcagaGcggcggcggcgggggcctgg																										TCGA-HC-8266-01A-11D-2260-08	TCGA-HC-8266-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79d05b35-8616-4147-af78-8bf33fa45499	ef3312fd-0ef1-4d54-9cea-4bf59a6ebf85	g.chr1:27023451_27023453delGCG	ENST00000324856.7	+	1	928_930	c.557_559delGCG	c.(556-561)agcggc>agc	p.G191del	ARID1A_ENST00000457599.2_In_Frame_Del_p.G191del|RP5-968P14.2_ENST00000569378.1_RNA	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	191					androgen receptor signaling pathway (GO:0030521)|ATP-dependent chromatin remodeling (GO:0043044)|cardiac chamber development (GO:0003205)|chromatin remodeling (GO:0006338)|chromatin-mediated maintenance of transcription (GO:0048096)|forebrain development (GO:0030900)|glucocorticoid receptor signaling pathway (GO:0042921)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|nucleosome disassembly (GO:0006337)|nucleosome mobilization (GO:0042766)|optic cup formation involved in camera-type eye development (GO:0003408)|placenta blood vessel development (GO:0060674)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|transcription coactivator activity (GO:0003713)		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		GCGCTGCAGAGCGGCGGCGGCGG	0.709			"Mis, N, F, S, D"		"clear cell ovarian carcinoma, RCC"																																	ENST00000324856.7				Rec	yes		1	1p35.3	8289	"Mis, N, F, S, D"	AT rich interactive domain 1A (SWI-like)			E			"clear cell ovarian carcinoma, RCC"	ARID1A/MAST2_ENST00000361297(2)	0				NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411						c.(556-561)agc>a		AT rich interactive domain 1A (SWI-like)			,	11,2245		1,9,1118					,	3.1	1			5	33,5207		1,31,2588	no	coding,coding	ARID1A	NM_139135.2,NM_006015.4	,	2,40,3706	A1A1,A1R,RR		0.6298,0.4876,0.587	,	,		44,7452				SO:0001651	inframe_deletion	8289				androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding	g.chr1:27023451_27023453delGCG	AB001895	CCDS285.1, CCDS44091.1	1p36.1-p35	2014-09-17	2006-11-08	2004-01-30	ENSG00000117713	ENSG00000117713		"-"	11110	protein-coding gene	gene with protein product		603024	"SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily f, member 1", "AT rich interactive domain 1A (SWI- like)"	C1orf4, SMARCF1		9630625, 9434167	Standard	NM_139135		Approved	B120, P270, C10rf4, BAF250, BAF250a	uc001bmv.1	O14497	OTTHUMG00000004004	ENST00000324856.7:c.557_559delGCG	1.37:g.27023460_27023462delGCG	ENSP00000320485:p.Gly191del					ARID1A_ENST00000457599.2_In_Frame_Del_p.SG186del	p.SG186del	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)	1	928_930	+		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	186					D3DPL1|Q53FK9|Q5T0W1|Q5T0W2|Q5T0W3|Q8NFD6|Q96T89|Q9BY33|Q9HBJ5|Q9UPZ1	In_Frame_Del	DEL	ENST00000324856.7	37	c.557_559delGCG	CCDS285.1																																																																																				0.709	ARID1A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000011437.2	NM_139135		2	4						2	4	---	---	---	---	-	27023453	GCG	-	27023451	7	5	238	1	0	1	0	1	0	0	0	0	913	971	34	0	559	0	ARID1A	1	27023451	In_Frame_Del	DEL	GCG	TCGA-HC-8266-01A-11D-2260-08	25801190	27023451	222227170	2	11095											
LHX8	431707	broad.mit.edu	37	chr1	75609601	75609601	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atccaaaaccagcaaaaagaGctcggaccagctttacagca	17	5	7	12	1	0	1	0	0	0	1	2	2	1	2	3	1	6	4	3	1	5	2			TCGA-HC-8266-01A-11D-2260-08	TCGA-HC-8266-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79d05b35-8616-4147-af78-8bf33fa45499	ef3312fd-0ef1-4d54-9cea-4bf59a6ebf85	g.chr1:75609601G>T	ENST00000294638.5	+	7	1346	c.682G>T	c.(682-684)Gct>Tct	p.A228S	LHX8_ENST00000356261.3_Missense_Mutation_p.A218S	NM_001001933.1	NP_001001933.1	Q68G74	LHX8_HUMAN	LIM homeobox 8	228					female gonad development (GO:0008585)|forebrain neuron development (GO:0021884)|learning or memory (GO:0007611)|odontogenesis of dentin-containing tooth (GO:0042475)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	female germ cell nucleus (GO:0001674)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(18)|ovary(3)|urinary_tract(1)	30						AGCAAAAAGAGCTCGGACCAG	0.398																																						ENST00000294638.5																			0				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(18)|ovary(3)|urinary_tract(1)	30						c.(682-684)Gct>Tct		LIM homeobox 8							107	103	104					1																	75609601		2203	4300	6503	SO:0001583	missense	431707					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr1:75609601G>T	AB050476	CCDS30756.1, CCDS58008.1	1p31.1	2011-06-20			ENSG00000162624	ENSG00000162624		"Homeoboxes / LIM class"	28838	protein-coding gene	gene with protein product		604425				9598319	Standard	NM_001256114		Approved	Lhx7	uc031pmx.1	Q68G74	OTTHUMG00000009692	ENST00000294638.5:c.682G>T	1.37:g.75609601G>T	ENSP00000294638:p.Ala228Ser					LHX8_ENST00000356261.3_Missense_Mutation_p.A218S	p.A228S	NM_001001933.1	NP_001001933.1	Q68G74	LHX8_HUMAN			7	1346	+			228					E9PGE3	Missense_Mutation	SNP	ENST00000294638.5	37	c.682G>T	CCDS30756.1	.	.	.	.	.	.	.	.	.	.	G	34	5.409934	0.96072	.	.	ENSG00000162624	ENST00000294638;ENST00000356261	D;D	0.96011	-3.88;-3.88	5.63	5.63	0.86233	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	D	0.93674	0.7979	N	0.04636	-0.2	0.80722	D	1	D	0.76494	0.999	D	0.76071	0.987	D	0.95636	0.8694	10	0.62326	D	0.03	.	20.0401	0.97581	0.0:0.0:1.0:0.0	.	228	Q68G74	LHX8_HUMAN	S	228;218	ENSP00000294638:A228S;ENSP00000348597:A218S	ENSP00000294638:A228S	A	+	1	0	LHX8	75382189	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.420000	0.97426	2.805000	0.96524	0.655000	0.94253	GCT		0.398	LHX8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000026700.1	NM_001001933		7	37	1	0	0.00307968	1	0.00321358	7	37					T	75609601	G	T	75609601	3	4	238	1	0	0	0	0	1	0	0	0	8776	971	34	5	704	5	LHX8	1	75609601	Missense_Mutation	SNP	G	TCGA-HC-8266-01A-11D-2260-08	48586150	75609601	173641020	3	11096											
BCAR3	8412	broad.mit.edu	37	chr1	94054855	94054855	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgctgagtcgcagaactgtcCggttgattttgaagtgctga	8	12	13	8	3	0	5	0	4	0	1	2	5	1	5	1	1	2	4	1	1	2	3	rs375478012		TCGA-HC-8266-01A-11D-2260-08	TCGA-HC-8266-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79d05b35-8616-4147-af78-8bf33fa45499	ef3312fd-0ef1-4d54-9cea-4bf59a6ebf85	g.chr1:94054855C>T	ENST00000370244.1	-	7	896	c.608G>A	c.(607-609)cGg>cAg	p.R203Q	RP5-1033H22.2_ENST00000427243.1_RNA|BCAR3_ENST00000370247.3_Missense_Mutation_p.R112Q|BCAR3_ENST00000370243.1_Missense_Mutation_p.R203Q|RP5-1033H22.2_ENST00000431770.1_RNA|BCAR3_ENST00000260502.6_Missense_Mutation_p.R203Q|RP5-1033H22.2_ENST00000417401.1_RNA	NM_001261408.1	NP_001248337.1	O75815	BCAR3_HUMAN	breast cancer anti-estrogen resistance 3	203	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				lens morphogenesis in camera-type eye (GO:0002089)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|response to drug (GO:0042493)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)		guanyl-nucleotide exchange factor activity (GO:0005085)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)	25		all_lung(203;0.00145)|Lung NSC(277;0.00662)		all cancers(265;0.0126)|GBM - Glioblastoma multiforme(16;0.0467)|Epithelial(280;0.166)		CAGAACTGTCCGGTTGATTTT	0.582																																						ENST00000370244.1																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)	25						c.(607-609)cGg>cAg		breast cancer anti-estrogen resistance 3		C	GLN/ARG	0,4406		0,0,2203	51	52	51		608	2	0.7	1		51	1,8599	1.2+/-3.3	0,1,4299	no	missense	BCAR3	NM_003567.2	43	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	203/826	94054855	1,13005	2203	4300	6503	SO:0001583	missense	8412				response to drug|small GTPase mediated signal transduction	intracellular	guanyl-nucleotide exchange factor activity|protein binding	g.chr1:94054855C>T	U92715	CCDS745.1, CCDS58010.1	1p22.1	2013-02-14			ENSG00000137936	ENSG00000137936		"SH2 domain containing"	973	protein-coding gene	gene with protein product		604704				9582273	Standard	NM_001261408		Approved	NSP2, SH2D3B	uc001dpz.4	O75815	OTTHUMG00000010301	ENST00000370244.1:c.608G>A	1.37:g.94054855C>T	ENSP00000359264:p.Arg203Gln					BCAR3_ENST00000370243.1_Missense_Mutation_p.R203Q|BCAR3_ENST00000370247.3_Missense_Mutation_p.R112Q|BCAR3_ENST00000260502.6_Missense_Mutation_p.R203Q	p.R203Q	NM_001261408.1	NP_001248337.1	O75815	BCAR3_HUMAN		all cancers(265;0.0126)|GBM - Glioblastoma multiforme(16;0.0467)|Epithelial(280;0.166)	7	896	-		all_lung(203;0.00145)|Lung NSC(277;0.00662)	203			SH2.		D3DT43|Q5TEW3|Q6UW40|Q9BR50	Missense_Mutation	SNP	ENST00000370244.1	37	c.608G>A	CCDS745.1	.	.	.	.	.	.	.	.	.	.	C	13.23	2.175328	0.38413	0.0	1.16E-4	ENSG00000137936	ENST00000370247;ENST00000260502;ENST00000370244;ENST00000370243	D;D;D;D	0.88277	-2.36;-2.36;-2.36;-2.36	4.96	2.01	0.26516	SH2 motif (4);	0.204896	0.51477	N	0.000088	T	0.70245	0.3202	N	0.16266	0.395	0.80722	D	1	B;B	0.30193	0.272;0.204	B;B	0.34931	0.192;0.028	T	0.69131	-0.5226	10	0.59425	D	0.04	11.2173	9.0892	0.36601	0.0:0.5727:0.0:0.4273	.	203;112	O75815;Q5TEW3	BCAR3_HUMAN;.	Q	112;203;203;203	ENSP00000359267:R112Q;ENSP00000260502:R203Q;ENSP00000359264:R203Q;ENSP00000359263:R203Q	ENSP00000260502:R203Q	R	-	2	0	BCAR3	93827443	0.653000	0.27358	0.743000	0.31040	0.366000	0.29705	0.526000	0.22971	0.614000	0.30107	0.561000	0.74099	CGG		0.582	BCAR3-003	NOVEL	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028420.1			4	39	0	0	0	1	0	4	39					T	94054855	C	T	94054855	3	4	238	1	0	0	0	0	1	0	0	0	1349	652	23	2	1901	2	BCAR3	1	94054855	Missense_Mutation	SNP	C	TCGA-HC-8266-01A-11D-2260-08	18445254	94054855	155195766	4	11097											
GATAD2B	57459	broad.mit.edu	37	chr1	153788813	153788813	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atgtagatgaactcgctattGgctgcactaggcaagaaatg	13	10	11	7	1	0	3	0	1	0	2	1	3	0	3	0	2	2	5	0	2	6	4			TCGA-HC-8266-01A-11D-2260-08	TCGA-HC-8266-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79d05b35-8616-4147-af78-8bf33fa45499	ef3312fd-0ef1-4d54-9cea-4bf59a6ebf85	g.chr1:153788813G>C	ENST00000368655.4	-	7	1395	c.1152C>G	c.(1150-1152)gcC>gcG	p.A384A		NM_020699.2	NP_065750.1	Q8WXI9	P66B_HUMAN	GATA zinc finger domain containing 2B	384	CR2; histone tail-binding.				ATP-dependent chromatin remodeling (GO:0043044)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|protein complex (GO:0043234)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(5)|lung(12)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	38	all_lung(78;1.34e-32)|Lung NSC(65;1.04e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			ACTCGCTATTGGCTGCACTAG	0.463																																						ENST00000368655.4																			0				breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(5)|lung(12)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	38						c.(1150-1152)gcC>gcG		GATA zinc finger domain containing 2B							94	79	84					1																	153788813		2203	4300	6503	SO:0001819	synonymous_variant	57459					nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr1:153788813G>C	AF411836	CCDS1054.1	1q21.3	2013-01-25			ENSG00000143614	ENSG00000143614		"GATA zinc finger domain containing"	30778	protein-coding gene	gene with protein product	"transcription repressor p66 beta component of the MeCP1 complex"	614998				10574461, 11756549	Standard	NM_020699		Approved	P66beta	uc001fdb.4	Q8WXI9	OTTHUMG00000037162	ENST00000368655.4:c.1152C>G	1.37:g.153788813G>C							p.A384A	NM_020699.2	NP_065750.1	Q8WXI9	P66B_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.151)		7	1395	-	all_lung(78;1.34e-32)|Lung NSC(65;1.04e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		384			CR2.		D3DUZ2|Q5VUR2|Q7LG68|Q9ULS0	Silent	SNP	ENST00000368655.4	37	c.1152C>G	CCDS1054.1																																																																																				0.463	GATAD2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090305.1	NM_020699		7	83	0	0	0	1	0	7	83					C	153788813	G	C	153788813	2	2	238	1	0	0	0	0	0	0	0	1	6261	1335	47	5		5	GATAD2B	1	153788813	Silent	SNP	G	TCGA-HC-8266-01A-11D-2260-08	59733958	153788813	95461808	5	11098											
NLRP3	114548	broad.mit.edu	37	chr1	247588840	247588840	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aggaggaggaaaaggaaggcCgacaccttgatatggtgcag	14	5	16	6	1	0	1	0	1	0	0	0	6	0	5	2	6	1	1	2	6	4	2			TCGA-HC-8266-01A-11D-2260-08	TCGA-HC-8266-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79d05b35-8616-4147-af78-8bf33fa45499	ef3312fd-0ef1-4d54-9cea-4bf59a6ebf85	g.chr1:247588840C>T	ENST00000336119.3	+	3	2841	c.2095C>T	c.(2095-2097)Cga>Tga	p.R699*	NLRP3_ENST00000391828.3_Nonsense_Mutation_p.R699*|NLRP3_ENST00000391827.2_Nonsense_Mutation_p.R699*|NLRP3_ENST00000348069.2_Nonsense_Mutation_p.R699*|NLRP3_ENST00000366496.2_Nonsense_Mutation_p.R699*|NLRP3_ENST00000366497.2_Nonsense_Mutation_p.R699*|NLRP3_ENST00000474792.1_3'UTR	NM_001127462.2|NM_001243133.1|NM_004895.4	NP_001120934.1|NP_001230062.1|NP_004886.3	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3	699					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|cellular response to lipopolysaccharide (GO:0071222)|defense response (GO:0006952)|defense response to virus (GO:0051607)|detection of biotic stimulus (GO:0009595)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-1 beta production (GO:0032611)|interleukin-1 secretion (GO:0050701)|interleukin-18 production (GO:0032621)|negative regulation of acute inflammatory response (GO:0002674)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 beta secretion (GO:0050713)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|NLRP3 inflammasome complex assembly (GO:0044546)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein oligomerization (GO:0051259)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|NLRP3 inflammasome complex (GO:0072559)	ATP binding (GO:0005524)|peptidoglycan binding (GO:0042834)			NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			AAAGGAAGGCCGACACCTTGA	0.532																																						ENST00000366497.2																			0				NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142						c.(2095-2097)Cga>Tga		NLR family, pyrin domain containing 3							131	117	122					1																	247588840		2203	4300	6503	SO:0001587	stop_gained	114548				detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding	g.chr1:247588840C>T	AF054176	CCDS1632.1, CCDS1633.1, CCDS44346.1, CCDS44347.1	1q44	2014-09-17	2006-12-08	2006-12-08	ENSG00000162711	ENSG00000162711		"Nucleotide-binding domain and leucine rich repeat containing"	16400	protein-coding gene	gene with protein product	"Cryopyrin", "nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 3"	606416	"cold autoinflammatory syndrome 1"	C1orf7, CIAS1		10741953	Standard	NM_183395		Approved	AGTAVPRL, AII, AVP, FCAS, FCU, NALP3, PYPAF1, MWS, CLR1.1	uc001icr.3	Q96P20	OTTHUMG00000040647	ENST00000336119.3:c.2095C>T	1.37:g.247588840C>T	ENSP00000337383:p.Arg699*					NLRP3_ENST00000336119.3_Nonsense_Mutation_p.R699*|NLRP3_ENST00000391827.2_Nonsense_Mutation_p.R699*|NLRP3_ENST00000348069.2_Nonsense_Mutation_p.R699*|NLRP3_ENST00000366496.2_Nonsense_Mutation_p.R699*|NLRP3_ENST00000474792.1_3'UTR|NLRP3_ENST00000391828.3_Nonsense_Mutation_p.R699*	p.R699*	NM_001127461.2	NP_001120933.1	Q96P20	NALP3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0141)		4	2875	+	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	699					B2RC97|B7ZKS9|B7ZKT2|B7ZKT3|O75434|Q17RS2|Q59H68|Q5JQS8|Q5JQS9|Q6TG35|Q8TCW0|Q8TEU9|Q8WXH9	Nonsense_Mutation	SNP	ENST00000336119.3	37	c.2095C>T	CCDS1632.1	.	.	.	.	.	.	.	.	.	.	C	42	9.513036	0.99192	.	.	ENSG00000162711	ENST00000391828;ENST00000366497;ENST00000336119;ENST00000348069;ENST00000366496;ENST00000391827	.	.	.	3.75	1.83	0.25207	.	1.869480	0.02994	N	0.147221	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	4.547	0.12085	0.2178:0.6664:0.0:0.1157	.	.	.	.	X	699	.	ENSP00000337383:R699X	R	+	1	2	NLRP3	245655463	0.000000	0.05858	0.000000	0.03702	0.037000	0.13140	-0.268000	0.08607	0.532000	0.28657	0.655000	0.94253	CGA		0.532	NLRP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097740.1	NM_004895		5	43	0	0	0	1	0	5	43					T	247588840	C	T	247588840	4	4	238	1	0	0	0	0	0	1	0	0	10478	644	23	2	2105	2	NLRP3	1	247588840	Nonsense_Mutation	SNP	C	TCGA-HC-8266-01A-11D-2260-08	93800027	247588840	1661781	6	11099											
BAZ2B	29994	broad.mit.edu	37	chr2	160289578	160289578	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agatttacaggtgaggaaaaAggggtgctacttgcagcagc	13	8	14	6	0	0	2	0	1	0	1	0	3	0	3	0	4	6	3	0	4	4	4			TCGA-HC-8266-01A-11D-2260-08	TCGA-HC-8266-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79d05b35-8616-4147-af78-8bf33fa45499	ef3312fd-0ef1-4d54-9cea-4bf59a6ebf85	g.chr2:160289578A>G	ENST00000392783.2	-	9	2085	c.1590T>C	c.(1588-1590)ccT>ccC	p.P530P	BAZ2B_ENST00000355831.2_Silent_p.P530P|BAZ2B_ENST00000343439.5_Silent_p.P528P|BAZ2B_ENST00000392782.1_Silent_p.P528P	NM_013450.2	NP_038478.2	Q9UIF8	BAZ2B_HUMAN	bromodomain adjacent to zinc finger domain, 2B	530			P -> L (in dbSNP:rs3732287).		regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	82						GTGAGGAAAAAGGGGTGCTAC	0.443																																						ENST00000392783.2																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	82						c.(1588-1590)ccT>ccC		bromodomain adjacent to zinc finger domain, 2B							185	168	174					2																	160289578		1871	4104	5975	SO:0001819	synonymous_variant	29994				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr2:160289578A>G	AB032255	CCDS2209.2, CCDS74594.1	2q24.2	2013-01-28			ENSG00000123636	ENSG00000123636		"Zinc fingers, PHD-type"	963	protein-coding gene	gene with protein product		605683				10662543	Standard	XM_005246488		Approved	WALp4	uc002uao.3	Q9UIF8	OTTHUMG00000132027	ENST00000392783.2:c.1590T>C	2.37:g.160289578A>G						BAZ2B_ENST00000355831.2_Silent_p.P530P|BAZ2B_ENST00000343439.5_Silent_p.P528P|BAZ2B_ENST00000392782.1_Silent_p.P528P	p.P530P	NM_013450.2	NP_038478.2	Q9UIF8	BAZ2B_HUMAN			9	2085	-			530		P -> L (in dbSNP:rs3732287).			D3DPA8|Q96EA1|Q96SQ8|Q9P252|Q9Y4N8	Silent	SNP	ENST00000392783.2	37	c.1590T>C	CCDS2209.2																																																																																				0.443	BAZ2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255037.2			3	111	0	0	0	1	0	3	111					G	160289578	A	G	160289578	2	3	238	1	0	0	0	0	0	0	0	1	1332	59	3	4		4	BAZ2B	2	160289578	Silent	SNP	A	TCGA-HC-8266-01A-11D-2260-08		160289578	82909795	7	11100											
SLC11A1	6556	broad.mit.edu	37	chr2	219249918	219249918	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgttgggcttgctctgccagCgactggctgcacgtctgggc	3	11	15	12	2	2	0	0	0	2	0	2	1	2	0	1	3	4	5	1	3	0	2			TCGA-HC-8266-01A-11D-2260-08	TCGA-HC-8266-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79d05b35-8616-4147-af78-8bf33fa45499	ef3312fd-0ef1-4d54-9cea-4bf59a6ebf85	g.chr2:219249918C>A	ENST00000233202.6	+	4	662	c.322C>A	c.(322-324)Cga>Aga	p.R108R	SLC11A1_ENST00000539932.1_5'UTR|SLC11A1_ENST00000473367.1_3'UTR	NM_000578.3	NP_000569.3	P49279	NRAM1_HUMAN	solute carrier family 11 (proton-coupled divalent metal ion transporter), member 1	108					activation of protein kinase activity (GO:0032147)|antigen processing and presentation of peptide antigen (GO:0048002)|cadmium ion transmembrane transport (GO:0070574)|cellular cadmium ion homeostasis (GO:0006876)|cellular iron ion homeostasis (GO:0006879)|defense response to bacterium (GO:0042742)|defense response to Gram-negative bacterium (GO:0050829)|defense response to protozoan (GO:0042832)|divalent metal ion export (GO:0070839)|inflammatory response (GO:0006954)|interaction with host (GO:0051701)|interleukin-2 production (GO:0032623)|interleukin-3 production (GO:0032632)|iron ion homeostasis (GO:0055072)|iron ion transport (GO:0006826)|L-arginine import (GO:0043091)|macrophage activation (GO:0042116)|manganese ion transport (GO:0006828)|MHC class II biosynthetic process (GO:0045342)|mRNA stabilization (GO:0048255)|multicellular organismal iron ion homeostasis (GO:0060586)|negative regulation of cytokine production (GO:0001818)|nitrite transport (GO:0015707)|phagocytosis (GO:0006909)|phagosome maturation (GO:0090382)|positive regulation of cytokine production (GO:0001819)|positive regulation of dendritic cell antigen processing and presentation (GO:0002606)|positive regulation of gene expression (GO:0010628)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of phagocytosis (GO:0050766)|positive regulation of T-helper 1 type immune response (GO:0002827)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein import into nucleus, translocation (GO:0000060)|respiratory burst (GO:0045730)|response to bacterium (GO:0009617)|response to interferon-gamma (GO:0034341)|response to lipopolysaccharide (GO:0032496)|T cell cytokine production (GO:0002369)|T cell proliferation involved in immune response (GO:0002309)|transmembrane transport (GO:0055085)|vacuolar acidification (GO:0007035)|wound healing (GO:0042060)	cell outer membrane (GO:0009279)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|late endosome membrane (GO:0031902)|lysosome (GO:0005764)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)|tertiary granule membrane (GO:0070821)	manganese ion transmembrane transporter activity (GO:0005384)|metal ion:proton antiporter activity (GO:0051139)|protein homodimerization activity (GO:0042803)|transition metal ion transmembrane transporter activity (GO:0046915)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	19		Renal(207;0.0474)		Epithelial(149;1.16e-06)|all cancers(144;0.000195)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GCTCTGCCAGCGACTGGCTGC	0.632																																						ENST00000233202.6																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	19						c.(322-324)Cga>Aga		solute carrier family 11 (proton-coupled divalent metal ion transporter), member 1							89	85	86					2																	219249918		2203	4300	6503	SO:0001819	synonymous_variant	6556				activation of protein kinase activity|antigen processing and presentation of peptide antigen|cadmium ion transmembrane transport|cellular cadmium ion homeostasis|cellular iron ion homeostasis|defense response to Gram-negative bacterium|defense response to protozoan|divalent metal ion export|inflammatory response|interleukin-2 production|interleukin-3 production|iron ion transport|L-arginine import|macrophage activation|MHC class II biosynthetic process|mRNA stabilization|multicellular organismal iron ion homeostasis|negative regulation of cytokine production|nitrite transport|phagocytosis|positive regulation of dendritic cell antigen processing and presentation|positive regulation of interferon-gamma production|positive regulation of phagocytosis|positive regulation of T-helper 1 type immune response|positive regulation of transcription from RNA polymerase II promoter|respiratory burst|response to interferon-gamma|response to lipopolysaccharide|T cell cytokine production|T cell proliferation involved in immune response|vacuolar acidification|wound healing	integral to plasma membrane|late endosome membrane|lysosome|phagocytic vesicle membrane|tertiary granule membrane	manganese ion transmembrane transporter activity|metal ion:hydrogen antiporter activity|protein homodimerization activity	g.chr2:219249918C>A	D38171	CCDS2415.1	2q35	2013-07-18	2013-07-18		ENSG00000018280	ENSG00000018280		"Solute carriers"	10907	protein-coding gene	gene with protein product	"natural resistance-associated macrophage protein 1"	600266		LSH, NRAMP, NRAMP1		7964458, 7980580	Standard	NM_000578		Approved		uc002vhv.3	P49279	OTTHUMG00000086747	ENST00000233202.6:c.322C>A	2.37:g.219249918C>A						SLC11A1_ENST00000539932.1_5'UTR|SLC11A1_ENST00000473367.1_3'UTR	p.R108R	NM_000578.3	NP_000569.3	P49279	NRAM1_HUMAN		Epithelial(149;1.16e-06)|all cancers(144;0.000195)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	4	662	+		Renal(207;0.0474)	108					C0H5Y3	Silent	SNP	ENST00000233202.6	37	c.322C>A	CCDS2415.1																																																																																				0.632	SLC11A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195076.2	NM_000578		3	126	1	0	0.004672	1	0.0047714	3	126					A	219249918	C	A	219249918	2	1	238	1	0	0	0	0	0	0	0	1	14380	760	27	5		5	SLC11A1	2	219249918	Silent	SNP	C	TCGA-HC-8266-01A-11D-2260-08	58960340	219249918	23949455	8	11101											
KIAA1407	57577	broad.mit.edu	37	chr3	113753974	113753974	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtactccagttctttctcacGtcttaagcgattttctttta	7	19	5	10	2	4	0	1	0	4	0	6	1	5	0	1	0	2	2	1	0	3	8			TCGA-HC-8266-01A-11D-2260-08	TCGA-HC-8266-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79d05b35-8616-4147-af78-8bf33fa45499	ef3312fd-0ef1-4d54-9cea-4bf59a6ebf85	g.chr3:113753974G>A	ENST00000295878.3	-	6	762	c.616C>T	c.(616-618)Cgt>Tgt	p.R206C	KIAA1407_ENST00000545063.1_Missense_Mutation_p.R37C	NM_020817.1	NP_065868.1	Q8NCU4	K1407_HUMAN	KIAA1407	206										endometrium(9)|large_intestine(7)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1)	40						TCTTTCTCACGTCTTAAGCGA	0.383																																						ENST00000295878.3																			0				endometrium(9)|large_intestine(7)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1)	40						c.(616-618)Cgt>Tgt		KIAA1407							85	85	85					3																	113753974		2203	4300	6503	SO:0001583	missense	57577							g.chr3:113753974G>A	AF509494	CCDS2977.1	3q13.31	2005-01-10			ENSG00000163617	ENSG00000163617			29272	protein-coding gene	gene with protein product						10718198	Standard	NM_020817		Approved		uc003eax.3	Q8NCU4	OTTHUMG00000159337	ENST00000295878.3:c.616C>T	3.37:g.113753974G>A	ENSP00000295878:p.Arg206Cys					KIAA1407_ENST00000545063.1_Missense_Mutation_p.R37C	p.R206C	NM_020817.1	NP_065868.1	Q8NCU4	K1407_HUMAN			6	762	-			206					B4DYL1|Q9P2E0	Missense_Mutation	SNP	ENST00000295878.3	37	c.616C>T	CCDS2977.1	.	.	.	.	.	.	.	.	.	.	G	18.73	3.686794	0.68157	.	.	ENSG00000163617	ENST00000295878;ENST00000545063;ENST00000491000;ENST00000483766	T;T;T	0.64085	0.55;0.04;-0.08	5.35	4.41	0.53225	.	0.060034	0.64402	D	0.000006	T	0.78130	0.4235	M	0.69823	2.125	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.963;0.999;0.963	T	0.80520	-0.1346	10	0.87932	D	0	.	16.6764	0.85280	0.0:0.0:0.862:0.138	.	193;82;206	C9JA89;B4DIZ9;Q8NCU4	.;.;K1407_HUMAN	C	206;37;193;170	ENSP00000295878:R206C;ENSP00000446381:R37C;ENSP00000418099:R193C	ENSP00000295878:R206C	R	-	1	0	KIAA1407	115236664	1.000000	0.71417	1.000000	0.80357	0.804000	0.45430	5.015000	0.64035	2.784000	0.95788	0.585000	0.79938	CGT		0.383	KIAA1407-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354724.2	NM_020817		6	33	0	0	0	1	0	6	33					A	113753974	G	A	113753974	3	1	238	1	0	0	0	0	1	0	0	0	8229	1145	40	1	2242	1	KIAA1407	3	113753974	Missense_Mutation	SNP	G	TCGA-HC-8266-01A-11D-2260-08		113753974	84268456	9	11102											
TAPT1	202018	broad.mit.edu	37	chr4	16189980	16189981	+	Splice_Site	INS	-	-	A																															aaacagacgatcagctacctINSaaaaaaaaaaattatttgta																										TCGA-HC-8266-01A-11D-2260-08	TCGA-HC-8266-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79d05b35-8616-4147-af78-8bf33fa45499	ef3312fd-0ef1-4d54-9cea-4bf59a6ebf85	g.chr4:16189980_16189981insA	ENST00000405303.2	-	5	696		c.e5-2		TAPT1_ENST00000508888.1_Splice_Site|TAPT1_ENST00000304584.8_Splice_Site|TAPT1_ENST00000399920.3_Splice_Site	NM_153365.2	NP_699196.2	Q6NXT6	TAPT1_HUMAN	transmembrane anterior posterior transformation 1						embryonic skeletal system development (GO:0048706)|G-protein coupled receptor signaling pathway (GO:0007186)|in utero embryonic development (GO:0001701)|post-embryonic development (GO:0009791)	integral component of membrane (GO:0016021)	growth hormone-releasing hormone receptor activity (GO:0016520)			NS(1)|breast(2)|cervix(1)|kidney(2)|large_intestine(2)|lung(1)|prostate(1)	10						ATCAGCTACCTAAAAAAAAAAA	0.317																																						ENST00000405303.2																			0				NS(1)|breast(2)|cervix(1)|kidney(2)|large_intestine(2)|lung(1)|prostate(1)	10						c.e5-2		transmembrane anterior posterior transformation 1																																				SO:0001630	splice_region_variant	202018					integral to membrane	growth hormone-releasing hormone receptor activity	g.chr4:16189980_16189981insA	AK074494	CCDS47030.1	4p15.32	2014-01-28			ENSG00000169762	ENSG00000169762			26887	protein-coding gene	gene with protein product		612758				12477932	Standard	NM_153365		Approved	FLJ90013	uc010ied.1	Q6NXT6	OTTHUMG00000160177	ENST00000405303.2:c.613-2->T	4.37:g.16189991_16189991dupA						TAPT1_ENST00000508888.1_Splice_Site|TAPT1_ENST00000399920.3_Splice_Site|TAPT1_ENST00000304584.8_Splice_Site		NM_153365.2	NP_699196.2	Q6NXT6	TAPT1_HUMAN			5	696	-								Q8N2S3|Q9NZK9	Splice_Site	INS	ENST00000405303.2	37		CCDS47030.1																																																																																				0.317	TAPT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359568.1	NM_153365	Intron	2	4						2	4	---	---	---	---	A	16189981	-	A	16189980	8	5	238	1	0	1	1	0	0	0	1	0	15551	1536	53	0	1132	0	TAPT1	4	16189980	Splice_Site	INS	-	TCGA-HC-8266-01A-11D-2260-08		16189980	174964296	10	11103											
SLC34A2	10568	broad.mit.edu	37	chr4	25667862	25667862	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagagctccagcacctcaacGtccatcgttgtcagcatggt	9	9	9	14	2	2	1	2	0	0	1	5	1	4	1	3	1	4	4	3	1	1	1			TCGA-HC-8266-01A-11D-2260-08	TCGA-HC-8266-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79d05b35-8616-4147-af78-8bf33fa45499	ef3312fd-0ef1-4d54-9cea-4bf59a6ebf85	g.chr4:25667862G>A	ENST00000382051.3	+	5	542	c.492G>A	c.(490-492)acG>acA	p.T164T	SLC34A2_ENST00000503434.1_Silent_p.T163T|SLC34A2_ENST00000510033.2_3'UTR|SLC34A2_ENST00000504570.1_Silent_p.T163T	NM_001177998.1|NM_006424.2	NP_001171469.1|NP_006415	O95436	NPT2B_HUMAN	solute carrier family 34 (type II sodium/phosphate contransporter), member 2	164					aging (GO:0007568)|cellular phosphate ion homeostasis (GO:0030643)|in utero embryonic development (GO:0001701)|ion transport (GO:0006811)|phosphate ion transmembrane transport (GO:0035435)|phosphate ion transport (GO:0006817)|response to estradiol (GO:0032355)|response to estrogen (GO:0043627)|response to fructose (GO:0009750)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|microvillus membrane (GO:0031528)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	phosphate ion binding (GO:0042301)|sodium ion binding (GO:0031402)|sodium-dependent phosphate transmembrane transporter activity (GO:0015321)|sodium:phosphate symporter activity (GO:0005436)		SLC34A2/ROS1(14)	breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(4)	41		Breast(46;0.0503)				GCACCTCAACGTCCATCGTTG	0.557			T	ROS1	NSCLC																																	ENST00000382051.3				Dom	yes		4	4p15.2	10568	T	"solute carrier family 34 (sodium phosphate), member 2"			E	ROS1		NSCLC	SLC34A2/ROS1(14)	0				breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(4)	41						c.(490-492)acG>acA		solute carrier family 34 (type II sodium/phosphate contransporter), member 2							123	108	113					4																	25667862		2203	4300	6503	SO:0001819	synonymous_variant	10568				cellular phosphate ion homeostasis	apical plasma membrane|brush border membrane|integral to plasma membrane	phosphate binding|sodium ion binding|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity	g.chr4:25667862G>A	AF111856	CCDS3435.1, CCDS54750.1	4p15.2	2013-07-17	2013-07-17		ENSG00000157765	ENSG00000157765		"Solute carriers"	11020	protein-coding gene	gene with protein product		604217	"solute carrier family 34 (sodium phosphate), member 2"			10329428, 10610722	Standard	NM_006424		Approved	NAPI-3B	uc003grr.3	O95436	OTTHUMG00000097757	ENST00000382051.3:c.492G>A	4.37:g.25667862G>A						SLC34A2_ENST00000504570.1_Silent_p.T163T|SLC34A2_ENST00000510033.2_3'UTR|SLC34A2_ENST00000503434.1_Silent_p.T163T	p.T164T	NM_001177998.1|NM_006424.2	NP_001171469.1|NP_006415.2	O95436	NPT2B_HUMAN			5	542	+		Breast(46;0.0503)	164					A5PL17|Q8N2K2|Q8WYA9|Q9P0V7	Silent	SNP	ENST00000382051.3	37	c.492G>A	CCDS3435.1																																																																																				0.557	SLC34A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214990.1	NM_006424		3	71	0	0	0	1	0	3	71					A	25667862	G	A	25667862	2	1	238	1	0	0	0	0	0	0	0	1	14568	1132	40	1		1	SLC34A2	4	25667862	Silent	SNP	G	TCGA-HC-8266-01A-11D-2260-08	9477882	25667862	165486414	11	11104											
SLC30A9	10463	broad.mit.edu	37	chr4	42072553	42072553	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cttcatttaggcaatccactGtatgacagcctaggttcttt	9	15	7	10	0	2	1	1	1	1	0	3	1	3	1	2	2	1	3	2	2	4	7			TCGA-HC-8266-01A-11D-2260-08	TCGA-HC-8266-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79d05b35-8616-4147-af78-8bf33fa45499	ef3312fd-0ef1-4d54-9cea-4bf59a6ebf85	g.chr4:42072553G>A	ENST00000264451.7	+	15	1443	c.1263G>A	c.(1261-1263)ctG>ctA	p.L421L		NM_006345.3	NP_006336.3	Q6PML9	ZNT9_HUMAN	solute carrier family 30 (zinc transporter), member 9	421					nucleotide-excision repair (GO:0006289)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)|zinc ion transport (GO:0006829)	cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	cation transmembrane transporter activity (GO:0008324)|chromatin binding (GO:0003682)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						GCAATCCACTGTATGACAGCC	0.398																																						ENST00000264451.6																			0				central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						c.(1261-1263)ctG>ctA		solute carrier family 30 (zinc transporter), member 9							181	160	167					4																	42072553		2203	4300	6503	SO:0001819	synonymous_variant	10463				nucleotide-excision repair|zinc ion transport	cytoskeleton|integral to membrane|nucleus	cation transmembrane transporter activity|nucleotide binding|sequence-specific DNA binding transcription factor activity	g.chr4:42072553G>A	AF006621	CCDS3465.1	4p13	2013-05-22	2003-09-09	2003-09-10	ENSG00000014824	ENSG00000014824		"Solute carriers"	1329	protein-coding gene	gene with protein product	"GRIP1-dependent nuclear receptor coactivator"	604604	"chromosome 4 open reading frame 1"	C4orf1		10409434, 11906820	Standard	NM_006345		Approved	HUEL, ZNT9, GAC63	uc003gwl.3	Q6PML9	OTTHUMG00000099387	ENST00000264451.7:c.1263G>A	4.37:g.42072553G>A							p.L421L	NM_006345.3	NP_006336.3	Q6PML9	ZNT9_HUMAN			15	1443	+			421					Q4W5B6|Q7Z5I7|Q8TBB2|Q9Y6R2	Silent	SNP	ENST00000264451.7	37	c.1263G>A	CCDS3465.1																																																																																				0.398	SLC30A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216842.3			23	110	0	0	0	1	0	23	110					A	42072553	G	A	42072553	2	1	238	1	0	0	0	0	0	0	0	1	14562	1364	48	3		3	SLC30A9	4	42072553	Silent	SNP	G	TCGA-HC-8266-01A-11D-2260-08	16404691	42072553	149081723	12	11105											
PLAC8	51316	broad.mit.edu	37	chr4	84026088	84026088	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctgtagagagtcctcattgcGacgcttgttccacacagaca	10	10	9	12	2	1	2	1	0	0	2	3	4	3	2	2	0	1	3	2	0	1	4			TCGA-HC-8266-01A-11D-2260-08	TCGA-HC-8266-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79d05b35-8616-4147-af78-8bf33fa45499	ef3312fd-0ef1-4d54-9cea-4bf59a6ebf85	g.chr4:84026088G>A	ENST00000509973.1	-	2	156	c.33C>T	c.(31-33)gtC>gtT	p.V11V	PLAC8_ENST00000515389.1_Intron|PLAC8_ENST00000311507.4_Silent_p.V68V|PLAC8_ENST00000426923.2_Silent_p.V68V|PLAC8_ENST00000505406.1_Silent_p.V68V|PLAC8_ENST00000411416.2_Silent_p.V68V			Q9UHV8	PP13_HUMAN	placenta-specific 8	0	Galectin. {ECO:0000255|PROSITE- ProRule:PRU00639}.				apoptotic process (GO:0006915)|phospholipid metabolic process (GO:0006644)		carbohydrate binding (GO:0030246)|lysophospholipase activity (GO:0004622)			large_intestine(2)|lung(3)|ovary(1)	6		Hepatocellular(203;0.114)				TCCTCATTGCGACGCTTGTTC	0.443																																						ENST00000426923.2																			0				large_intestine(2)|lung(3)|ovary(1)	6						c.(202-204)gtC>gtT		placenta-specific 8							120	109	113					4																	84026088		2203	4300	6503	SO:0001819	synonymous_variant	51316							g.chr4:84026088G>A	AF208846	CCDS3601.1	4q21.22	2006-05-20			ENSG00000145287	ENSG00000145287			19254	protein-coding gene	gene with protein product		607515				12758124, 12384430	Standard	NM_016619		Approved	onzin, C15	uc003hoe.3	Q9NZF1	OTTHUMG00000130294	ENST00000509973.1:c.33C>T	4.37:g.84026088G>A						PLAC8_ENST00000515389.1_Intron|PLAC8_ENST00000505406.1_Silent_p.V68V|PLAC8_ENST00000311507.4_Silent_p.V68V|PLAC8_ENST00000509973.1_Silent_p.V11V|PLAC8_ENST00000411416.2_Silent_p.V68V	p.V68V	NM_001130715.1	NP_001124187.1	Q9NZF1	PLAC8_HUMAN			3	282	-		Hepatocellular(203;0.114)	68					C5HZ15	Silent	SNP	ENST00000509973.1	37	c.204C>T																																																																																					0.443	PLAC8-003	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000363078.1	NM_016619		8	95	0	0	0	1	0	8	95					A	84026088	G	A	84026088	2	1	238	1	0	0	0	0	0	0	0	1	12015	1045	37	2		2	PLAC8	4	84026088	Silent	SNP	G	TCGA-HC-8266-01A-11D-2260-08	41953535	84026088	107128188	13	11106											
TBC1D9	23158	broad.mit.edu	37	chr4	141543453	141543453	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cctggccatcatgcacacggGcttgtcaaagtacttgacca	10	9	9	13	1	2	1	2	1	0	0	2	1	2	1	3	2	2	3	3	2	2	3			TCGA-HC-8266-01A-11D-2260-08	TCGA-HC-8266-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79d05b35-8616-4147-af78-8bf33fa45499	ef3312fd-0ef1-4d54-9cea-4bf59a6ebf85	g.chr4:141543453G>T	ENST00000442267.2	-	21	3771	c.3697C>A	c.(3697-3699)Ccc>Acc	p.P1233T		NM_015130.2	NP_055945.2	Q6ZT07	TBCD9_HUMAN	TBC1 domain family, member 9 (with GRAM domain)	1233							calcium ion binding (GO:0005509)|Rab GTPase activator activity (GO:0005097)	p.P1233T(2)		endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	31	all_hematologic(180;0.162)	Medulloblastoma(177;0.00498)				ATGCACACGGGCTTGTCAAAG	0.592																																						ENST00000442267.2																			2	Substitution - Missense(2)	p.P1233T(2)	prostate(2)	endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	31						c.(3697-3699)Ccc>Acc		TBC1 domain family, member 9 (with GRAM domain)							58	61	60					4																	141543453		2054	4196	6250	SO:0001583	missense	23158					intracellular	calcium ion binding|Rab GTPase activator activity	g.chr4:141543453G>T	AB020689	CCDS47136.1	4q31.1	2013-01-10	2006-07-12		ENSG00000109436	ENSG00000109436		"EF-hand domain containing"	21710	protein-coding gene	gene with protein product			"TBC1 domain family, member 9"			12970790	Standard	NM_015130		Approved	KIAA0882, MDR1	uc010ioj.3	Q6ZT07	OTTHUMG00000161405	ENST00000442267.2:c.3697C>A	4.37:g.141543453G>T	ENSP00000411197:p.Pro1233Thr						p.P1233T	NM_015130.2	NP_055945.2	Q6ZT07	TBCD9_HUMAN			21	3771	-	all_hematologic(180;0.162)	Medulloblastoma(177;0.00498)	1233					A6H8U8|D3DNZ1|O94958	Missense_Mutation	SNP	ENST00000442267.2	37	c.3697C>A	CCDS47136.1	.	.	.	.	.	.	.	.	.	.	G	15.47	2.843497	0.51057	.	.	ENSG00000109436	ENST00000442267	T	0.09817	2.94	5.22	5.22	0.72569	.	0.000000	0.85682	D	0.000000	T	0.16471	0.0396	L	0.58810	1.83	0.80722	D	1	B	0.20780	0.048	B	0.22753	0.041	T	0.02450	-1.1157	10	0.66056	D	0.02	.	18.7997	0.92011	0.0:0.0:1.0:0.0	.	1233	Q6ZT07	TBCD9_HUMAN	T	1233	ENSP00000411197:P1233T	ENSP00000411197:P1233T	P	-	1	0	TBC1D9	141762903	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.843000	0.99491	2.430000	0.82344	0.655000	0.94253	CCC		0.592	TBC1D9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364806.1	NM_015130		7	42	1	0	2.0095e-06	1	2.24316e-06	7	42					T	141543453	G	T	141543453	3	4	238	1	0	0	0	0	1	0	0	0	15624	1203	42	5	107	5	TBC1D9	4	141543453	Missense_Mutation	SNP	G	TCGA-HC-8266-01A-11D-2260-08	57517365	141543453	49610823	14	11107											
PCDHB2	56133	broad.mit.edu	37	chr5	140476458	140476458	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caccgtctacctggtggtggCgttggcctcggtgtcttcgc	2	12	14	13	4	2	0	0	0	2	0	4	0	2	0	3	5	1	1	3	5	1	3			TCGA-HC-8266-01A-11D-2260-08	TCGA-HC-8266-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79d05b35-8616-4147-af78-8bf33fa45499	ef3312fd-0ef1-4d54-9cea-4bf59a6ebf85	g.chr5:140476458C>T	ENST00000194155.4	+	1	2232	c.2084C>T	c.(2083-2085)gCg>gTg	p.A695V		NM_018936.2	NP_061759.1	Q9Y5E7	PCDB2_HUMAN	protocadherin beta 2	695					calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CTGGTGGTGGCGTTGGCCTCG	0.697																																						ENST00000194155.4																			0				NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	71						c.(2083-2085)gCg>gTg									54	56	55					5																	140476458		2135	4180	6315	SO:0001583	missense	0				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	g.chr5:140476458C>T	AF152495	CCDS4244.1	5q31	2010-01-26			ENSG00000112852	ENSG00000112852		"Cadherins / Protocadherins : Clustered"	8687	other	protocadherin		606328				10380929	Standard	NM_018936		Approved	PCDH-BETA2	uc003lil.3	Q9Y5E7	OTTHUMG00000129606	ENST00000194155.4:c.2084C>T	5.37:g.140476458C>T	ENSP00000194155:p.Ala695Val						p.A695V	NM_018936.2	NP_061759.1	Q9Y5E7	PCDB2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	2232	+			695					Q4KMU1	Missense_Mutation	SNP	ENST00000194155.4	37	c.2084C>T	CCDS4244.1	.	.	.	.	.	.	.	.	.	.	C	18.49	3.634689	0.67130	.	.	ENSG00000112852	ENST00000194155	T	0.25250	1.81	3.99	3.99	0.46301	.	.	.	.	.	T	0.55130	0.1901	H	0.97983	4.12	0.25800	N	0.984523	D	0.67145	0.996	P	0.49752	0.621	T	0.63492	-0.6625	9	0.87932	D	0	.	12.885	0.58038	0.0:0.835:0.165:0.0	.	695	Q9Y5E7	PCDB2_HUMAN	V	695	ENSP00000194155:A695V	ENSP00000194155:A695V	A	+	2	0	PCDHB2	140456642	0.005000	0.15991	0.033000	0.17914	0.553000	0.35397	1.774000	0.38573	1.921000	0.55644	0.456000	0.33151	GCG		0.697	PCDHB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251801.2	NM_018936		21	212	0	0	0	1	0	21	212					T	140476458	C	T	140476458	3	4	238	1	0	0	0	0	1	0	0	0	11542	768	27	1	2086	1	PCDHB2	5	140476458	Missense_Mutation	SNP	C	TCGA-HC-8266-01A-11D-2260-08		140476458	40438802	15	11108											
SYNE1	23345	broad.mit.edu	37	chr6	152522967	152522967	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcagtaatttaccttgcaacGcatttgttctgcatggagct	9	15	8	9	1	2	0	1	0	1	0	2	1	2	1	1	1	5	6	1	1	3	6			TCGA-HC-8266-01A-11D-2260-08	TCGA-HC-8266-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79d05b35-8616-4147-af78-8bf33fa45499	ef3312fd-0ef1-4d54-9cea-4bf59a6ebf85	g.chr6:152522967G>A	ENST00000367255.5	-	127	23738	c.23137C>T	c.(23137-23139)Cgt>Tgt	p.R7713C	SYNE1_ENST00000356820.4_Missense_Mutation_p.R2237C|SYNE1_ENST00000423061.1_Missense_Mutation_p.R7642C|SYNE1_ENST00000341594.5_Missense_Mutation_p.R7325C|SYNE1_ENST00000265368.4_Missense_Mutation_p.R7713C|SYNE1_ENST00000448038.1_Missense_Mutation_p.R7642C	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	7713					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		ACCTTGCAACGCATTTGTTCT	0.448										HNSCC(10;0.0054)																												ENST00000367255.5																			0				NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524						c.(23137-23139)Cgt>Tgt		spectrin repeat containing, nuclear envelope 1							119	123	122					6																	152522967		2203	4300	6503	SO:0001583	missense	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152522967G>A	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"myocyte nuclear envelope protein 1", "nuclear envelope spectrin repeat-1"	608441	"chromosome 6 open reading frame 98"	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.23137C>T	6.37:g.152522967G>A	ENSP00000356224:p.Arg7713Cys	HNSCC(10;0.0054)				SYNE1_ENST00000448038.1_Missense_Mutation_p.R7642C|SYNE1_ENST00000423061.1_Missense_Mutation_p.R7642C|SYNE1_ENST00000356820.4_Missense_Mutation_p.R2237C|SYNE1_ENST00000265368.4_Missense_Mutation_p.R7713C|SYNE1_ENST00000341594.5_Missense_Mutation_p.R7325C	p.R7713C	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	127	23738	-		Ovarian(120;0.0955)	7713					E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	c.23137C>T	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	G	15.74	2.923580	0.52653	.	.	ENSG00000131018	ENST00000367255;ENST00000367257;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000356820;ENST00000367251	T;T;T;T;T;T;T;T	0.37058	1.22;1.22;1.22;1.22;1.22;1.22;1.22;1.22	6.08	5.22	0.72569	.	0.096332	0.46442	N	0.000296	T	0.30230	0.0758	M	0.81802	2.56	0.80722	D	1	B;B;B;B	0.32409	0.254;0.254;0.37;0.254	B;B;B;B	0.31547	0.062;0.062;0.132;0.062	T	0.28586	-1.0039	10	0.56958	D	0.05	.	15.4456	0.75228	0.0662:0.0:0.9338:0.0	.	7713;7713;7642;7642	Q8NF91;E7EQI5;Q8NF91-4;E9PEL9	SYNE1_HUMAN;.;.;.	C	7713;359;7642;7713;7642;7325;2237;635	ENSP00000356224:R7713C;ENSP00000356226:R359C;ENSP00000396024:R7642C;ENSP00000265368:R7713C;ENSP00000390975:R7642C;ENSP00000341887:R7325C;ENSP00000349276:R2237C;ENSP00000356220:R635C	ENSP00000265368:R7713C	R	-	1	0	SYNE1	152564660	1.000000	0.71417	0.998000	0.56505	0.724000	0.41520	2.715000	0.47210	1.594000	0.50039	0.591000	0.81541	CGT		0.448	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		4	73	0	0	0	1	0	4	73					A	152522967	G	A	152522967	3	1	238	1	0	0	0	0	1	0	0	0	15442	1087	38	1	3409	1	SYNE1	6	152522967	Missense_Mutation	SNP	G	TCGA-HC-8266-01A-11D-2260-08		152522967	18592100	16	11109											
ELMO1	9844	broad.mit.edu	37	chr7	37382282	37382282	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggccaccttgacgatgtccgCgggtggcggcattgtaagtc	6	9	15	11	4	0	1	0	1	0	0	2	2	1	1	3	4	0	2	3	4	1	3	rs146510671		TCGA-HC-8266-01A-11D-2260-08	TCGA-HC-8266-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79d05b35-8616-4147-af78-8bf33fa45499	ef3312fd-0ef1-4d54-9cea-4bf59a6ebf85	g.chr7:37382282C>T	ENST00000310758.4	-	2	660	c.13G>A	c.(13-15)Gcg>Acg	p.A5T	ELMO1_ENST00000442504.1_Missense_Mutation_p.A5T|ELMO1_ENST00000448602.1_Missense_Mutation_p.A5T	NM_001206480.1|NM_014800.10	NP_001193409.1|NP_055615.8	Q92556	ELMO1_HUMAN	engulfment and cell motility 1	5					actin cytoskeleton organization (GO:0030036)|apoptotic process (GO:0006915)|cellular component movement (GO:0006928)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|phagocytosis, engulfment (GO:0006911)|Rac protein signal transduction (GO:0016601)|regulation of defense response to virus by virus (GO:0050690)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	SH3 domain binding (GO:0017124)	p.A5T(1)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(28)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	58						ACGATGTCCGCGGGTGGCGGC	0.502																																						ENST00000310758.4																			1	Substitution - Missense(1)	p.A5T(1)	ovary(1)	breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(28)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	58						c.(13-15)Gcg>Acg		engulfment and cell motility 1		C	THR/ALA,THR/ALA,THR/ALA	2,4404	4.2+/-10.8	0,2,2201	116	121	119		13,13,13	4	0	7	dbSNP_134	119	0,8600		0,0,4300	no	missense,missense,missense	ELMO1	NM_001206480.1,NM_001206482.1,NM_014800.10	58,58,58	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	benign,benign,benign	5/728,5/728,5/728	37382282	2,13004	2203	4300	6503	SO:0001583	missense	9844				actin cytoskeleton organization|apoptosis|cellular component movement|phagocytosis, engulfment|Rac protein signal transduction|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|plasma membrane	SH3 domain binding	g.chr7:37382282C>T	AF398885	CCDS5449.1, CCDS5450.1	7p14.1	2012-07-10	2006-01-20		ENSG00000155849	ENSG00000155849		"Engulfment and cell motility proteins"	16286	protein-coding gene	gene with protein product		606420	"engulfment and cell motility 1 (ced-12 homolog, C. elegans)"			11595183	Standard	NM_001039459		Approved	KIAA0281, CED12, ELMO-1, CED-12	uc003tfk.2	Q92556	OTTHUMG00000023701	ENST00000310758.4:c.13G>A	7.37:g.37382282C>T	ENSP00000312185:p.Ala5Thr					ELMO1_ENST00000442504.1_Missense_Mutation_p.A5T|ELMO1_ENST00000448602.1_Missense_Mutation_p.A5T	p.A5T	NM_001206480.1|NM_014800.10	NP_001193409.1|NP_055615.8	Q92556	ELMO1_HUMAN			2	660	-			5					A4D1X6|Q29R79|Q6ZTJ0|Q96PB0|Q9H0I1	Missense_Mutation	SNP	ENST00000310758.4	37	c.13G>A	CCDS5449.1	.	.	.	.	.	.	.	.	.	.	C	18.04	3.533964	0.64972	4.54E-4	0.0	ENSG00000155849	ENST00000310758;ENST00000442504;ENST00000448602;ENST00000455119;ENST00000455879;ENST00000453399;ENST00000445322	T;T;T;T;T;T;T	0.44881	2.53;2.53;2.53;1.53;1.52;0.94;0.91	4.94	4.03	0.46877	.	0.200167	0.41823	D	0.000804	T	0.27594	0.0678	N	0.19112	0.55	0.44323	D	0.997201	B	0.14012	0.009	B	0.14578	0.011	T	0.04635	-1.0937	10	0.25106	T	0.35	.	12.5184	0.56046	0.1731:0.8269:0.0:0.0	.	5	Q92556	ELMO1_HUMAN	T	5	ENSP00000312185:A5T;ENSP00000406952:A5T;ENSP00000394458:A5T;ENSP00000406610:A5T;ENSP00000416090:A5T;ENSP00000391734:A5T;ENSP00000397857:A5T	ENSP00000312185:A5T	A	-	1	0	ELMO1	37348807	0.961000	0.32948	0.033000	0.17914	0.945000	0.59286	2.373000	0.44266	1.166000	0.42689	0.655000	0.94253	GCG		0.502	ELMO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219830.4	NM_130442		4	148	0	0	0	1	0	4	148					T	37382282	C	T	37382282	3	4	238	1	0	0	0	0	1	0	0	0	5065	768	27	1	2254	1	ELMO1	7	37382282	Missense_Mutation	SNP	C	TCGA-HC-8266-01A-11D-2260-08		37382282	121756381	17	11110											
BAZ1B	9031	broad.mit.edu	37	chr7	72891714	72891714	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agatctgcgcaagcagagccGcaccagctctgaaacagaat	14	5	10	12	2	2	4	0	1	2	3	2	4	2	4	2	0	5	4	2	0	3	0			TCGA-HC-8266-01A-11D-2260-08	TCGA-HC-8266-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79d05b35-8616-4147-af78-8bf33fa45499	ef3312fd-0ef1-4d54-9cea-4bf59a6ebf85	g.chr7:72891714G>A	ENST00000339594.4	-	7	2415	c.2077C>T	c.(2077-2079)Cgg>Tgg	p.R693W	BAZ1B_ENST00000404251.1_Missense_Mutation_p.R693W	NM_032408.3	NP_115784.1	Q9UIG0	BAZ1B_HUMAN	bromodomain adjacent to zinc finger domain, 1B	693					cellular response to DNA damage stimulus (GO:0006974)|chromatin assembly or disassembly (GO:0006333)|chromatin-mediated maintenance of transcription (GO:0048096)|double-strand break repair (GO:0006302)|heart morphogenesis (GO:0003007)|histone phosphorylation (GO:0016572)|peptidyl-tyrosine phosphorylation (GO:0018108)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	condensed chromosome (GO:0000793)|nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|histone kinase activity (GO:0035173)|lysine-acetylated histone binding (GO:0070577)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)|vitamin D receptor activator activity (GO:0071884)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(5)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Lung NSC(55;0.0659)|all_lung(88;0.152)				AAGCAGAGCCGCACCAGCTCT	0.473																																					Esophageal Squamous(112;1167 1561 21085 43672 48228)	ENST00000339594.4																			0				NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(5)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						c.(2077-2079)Cgg>Tgg		bromodomain adjacent to zinc finger domain, 1B							103	97	99					7																	72891714		2203	4300	6503	SO:0001583	missense	9031				ATP-dependent chromatin remodeling|chromatin-mediated maintenance of transcription|DNA replication-dependent nucleosome disassembly|double-strand break repair|heart morphogenesis|transcription, DNA-dependent	WINAC complex	ATP binding|chromatin binding|histone acetyl-lysine binding|histone kinase activity|non-membrane spanning protein tyrosine kinase activity|protein complex scaffold|vitamin D receptor activator activity|vitamin D receptor binding|zinc ion binding	g.chr7:72891714G>A	AF084479	CCDS5549.1	7q11.23	2013-01-28			ENSG00000009954	ENSG00000009954		"Zinc fingers, PHD-type"	961	protein-coding gene	gene with protein product	"Williams-Beuren syndrome chromosome region 9", "Williams-Beuren syndrome chromosome region 10", "transcription factor WSTF"	605681		WBSCR9, WBSCR10		9858827, 9828126	Standard	NM_032408		Approved	WSTF	uc003tyc.3	Q9UIG0	OTTHUMG00000023847	ENST00000339594.4:c.2077C>T	7.37:g.72891714G>A	ENSP00000342434:p.Arg693Trp					BAZ1B_ENST00000404251.1_Missense_Mutation_p.R693W	p.R693W	NM_032408.3	NP_115784.1	Q9UIG0	BAZ1B_HUMAN			7	2415	-		Lung NSC(55;0.0659)|all_lung(88;0.152)	693					B9EGK3|D3DXE9|O95039|O95247|O95277|Q6P1K4|Q86UJ6	Missense_Mutation	SNP	ENST00000339594.4	37	c.2077C>T	CCDS5549.1	.	.	.	.	.	.	.	.	.	.	G	17.53	3.413207	0.62511	.	.	ENSG00000009954	ENST00000339594;ENST00000404251	D;D	0.84873	-1.91;-1.91	5.88	5.0	0.66597	.	0.000000	0.85682	D	0.000000	D	0.92665	0.7669	M	0.83223	2.63	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.93743	0.7052	10	0.87932	D	0	-17.9167	15.6623	0.77197	0.0:0.0:0.862:0.138	.	693	Q9UIG0	BAZ1B_HUMAN	W	693	ENSP00000342434:R693W;ENSP00000385442:R693W	ENSP00000342434:R693W	R	-	1	2	BAZ1B	72529650	1.000000	0.71417	0.974000	0.42286	0.784000	0.44337	5.141000	0.64814	1.499000	0.48617	-0.268000	0.10319	CGG		0.473	BAZ1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252123.4	NM_032408		10	61	0	0	0	1	0	10	61					A	72891714	G	A	72891714	3	1	238	1	0	0	0	0	1	0	0	0	1330	1086	38	1	2426	1	BAZ1B	7	72891714	Missense_Mutation	SNP	G	TCGA-HC-8266-01A-11D-2260-08	35509432	72891714	86246949	18	11111											
ZNF395	55893	broad.mit.edu	37	chr8	28206326	28206326	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccatacaccttgcggcacttCttagcctcccctcgggcttt	5	12	7	17	2	1	0	0	0	1	0	3	0	2	0	5	2	3	2	5	2	2	5			TCGA-HC-8266-01A-11D-2260-08	TCGA-HC-8266-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79d05b35-8616-4147-af78-8bf33fa45499	ef3312fd-0ef1-4d54-9cea-4bf59a6ebf85	g.chr8:28206326C>T	ENST00000344423.5	-	10	1583	c.1452G>A	c.(1450-1452)aaG>aaA	p.K484K	ZNF395_ENST00000523202.1_Silent_p.K484K|ZNF395_ENST00000523095.1_Silent_p.K484K	NM_018660.2	NP_061130.1	Q9H8N7	ZN395_HUMAN	zinc finger protein 395	484					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			cervix(1)|endometrium(1)|kidney(5)|large_intestine(6)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24		Ovarian(32;2.06e-05)		KIRC - Kidney renal clear cell carcinoma(542;0.102)|Kidney(114;0.123)|Colorectal(74;0.142)		TGCGGCACTTCTTAGCCTCCC	0.627																																						ENST00000344423.5																			0				cervix(1)|endometrium(1)|kidney(5)|large_intestine(6)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						c.(1450-1452)aaG>aaA		zinc finger protein 395							63	60	61					8																	28206326		2203	4300	6503	SO:0001819	synonymous_variant	55893				transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding	g.chr8:28206326C>T	AB044750	CCDS6067.1	8p21	2008-05-02			ENSG00000186918	ENSG00000186918		"Zinc fingers, C2H2-type"	18737	protein-coding gene	gene with protein product		609494				14625278	Standard	NM_018660		Approved	PRF-1, HDBP2, PBF, DKFZp434K1210	uc003xgr.3	Q9H8N7	OTTHUMG00000102137	ENST00000344423.5:c.1452G>A	8.37:g.28206326C>T						ZNF395_ENST00000523202.1_Silent_p.K484K|ZNF395_ENST00000523095.1_Silent_p.K484K	p.K484K	NM_018660.2	NP_061130.1	Q9H8N7	ZN395_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.102)|Kidney(114;0.123)|Colorectal(74;0.142)	10	1583	-		Ovarian(32;2.06e-05)	484					B3KUY7|D3DST4|Q6F6H2|Q9BY72|Q9NPB2|Q9NS57|Q9NS58|Q9NS59	Silent	SNP	ENST00000344423.5	37	c.1452G>A	CCDS6067.1																																																																																				0.627	ZNF395-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219976.1			6	74	0	0	0	1	0	6	74					T	28206326	C	T	28206326	2	4	238	1	0	0	0	0	0	0	0	1	17878	912	32	3		3	ZNF395	8	28206326	Silent	SNP	C	TCGA-HC-8266-01A-11D-2260-08		28206326	118157696	19	11112											
WWP1	11059	broad.mit.edu	37	chr8	87470210	87470210	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggcagagaaatactgtttatCgacattatacaagaaacagc	17	9	8	7	1	0	2	0	0	0	2	1	4	0	2	0	1	4	2	0	1	7	5			TCGA-HC-8266-01A-11D-2260-08	TCGA-HC-8266-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79d05b35-8616-4147-af78-8bf33fa45499	ef3312fd-0ef1-4d54-9cea-4bf59a6ebf85	g.chr8:87470210C>T	ENST00000517970.1	+	22	2762	c.2455C>T	c.(2455-2457)Cga>Tga	p.R819*	WWP1_ENST00000265428.4_Nonsense_Mutation_p.R819*|WWP1_ENST00000341922.2_Nonsense_Mutation_p.R689*|WWP1_ENST00000349423.2_Nonsense_Mutation_p.R601*	NM_007013.3	NP_008944.1	Q9H0M0	WWP1_HUMAN	WW domain containing E3 ubiquitin protein ligase 1	819	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				central nervous system development (GO:0007417)|ion transmembrane transport (GO:0034220)|negative regulation of transcription, DNA-templated (GO:0045892)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|signal transduction (GO:0007165)|transmembrane transport (GO:0055085)|viral entry into host cell (GO:0046718)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ubiquitin ligase complex (GO:0000151)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			endometrium(3)|kidney(2)|large_intestine(9)|liver(4)|lung(10)|prostate(2)|urinary_tract(1)	31						TACTGTTTATCGACATTATAC	0.358																																						ENST00000517970.1																			0				endometrium(3)|kidney(2)|large_intestine(9)|liver(4)|lung(10)|prostate(2)|urinary_tract(1)	31						c.(2455-2457)Cga>Tga		WW domain containing E3 ubiquitin protein ligase 1							168	150	156					8																	87470210		2203	4300	6503	SO:0001587	stop_gained	11059				central nervous system development|entry of virus into host cell|negative regulation of transcription, DNA-dependent|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|signal transduction	cytoplasm|nucleus|plasma membrane|ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity	g.chr8:87470210C>T	AY043361	CCDS6242.1	8q21.3	2013-07-22			ENSG00000123124	ENSG00000123124			17004	protein-coding gene	gene with protein product		602307				9169421, 9647693	Standard	NM_007013		Approved	AIP5, DKFZP434D2111	uc003ydt.3	Q9H0M0	OTTHUMG00000163690	ENST00000517970.1:c.2455C>T	8.37:g.87470210C>T	ENSP00000427793:p.Arg819*					WWP1_ENST00000349423.2_Nonsense_Mutation_p.R601*|WWP1_ENST00000341922.2_Nonsense_Mutation_p.R689*|WWP1_ENST00000265428.4_Nonsense_Mutation_p.R819*	p.R819*	NM_007013.3	NP_008944.1	Q9H0M0	WWP1_HUMAN			22	2762	+			819			HECT.		O00307|Q5YLC1|Q96BP4	Nonsense_Mutation	SNP	ENST00000517970.1	37	c.2455C>T	CCDS6242.1	.	.	.	.	.	.	.	.	.	.	C	39	7.854032	0.98525	.	.	ENSG00000123124	ENST00000517970;ENST00000265428;ENST00000341922;ENST00000349423	.	.	.	5.12	5.12	0.69794	.	0.070564	0.64402	D	0.000018	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	18.5892	0.91202	0.0:1.0:0.0:0.0	.	.	.	.	X	819;819;689;601	.	ENSP00000265428:R819X	R	+	1	2	WWP1	87539326	1.000000	0.71417	0.992000	0.48379	0.986000	0.74619	2.937000	0.48979	2.386000	0.81285	0.585000	0.79938	CGA		0.358	WWP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374755.1	NM_007013		4	212	0	0	0	1	0	4	212					T	87470210	C	T	87470210	4	4	238	1	0	0	0	0	0	1	0	0	17412	876	31	2	2533	2	WWP1	8	87470210	Nonsense_Mutation	SNP	C	TCGA-HC-8266-01A-11D-2260-08	59263884	87470210	58893812	20	11113											
CDC14B	8555	broad.mit.edu	37	chr9	99296346	99296346	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cagcatccgtaaagcgtttgGcatcatacatccttttattc	10	14	6	11	2	1	0	1	0	0	0	4	0	3	0	2	1	3	4	2	1	4	6			TCGA-HC-8266-01A-11D-2260-08	TCGA-HC-8266-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79d05b35-8616-4147-af78-8bf33fa45499	ef3312fd-0ef1-4d54-9cea-4bf59a6ebf85	g.chr9:99296346G>C	ENST00000375241.1	-	9	1260	c.809C>G	c.(808-810)gCc>gGc	p.A270G	CDC14B_ENST00000375242.3_Missense_Mutation_p.A233G|CDC14B_ENST00000265659.2_Missense_Mutation_p.A270G|CDC14B_ENST00000463569.1_Missense_Mutation_p.A270G|CDC14B_ENST00000375236.1_Missense_Mutation_p.A270G|CDC14B_ENST00000375240.3_Missense_Mutation_p.A270G	NM_003671.3|NM_033331.2	NP_003662.1|NP_201588.1	O60729	CC14B_HUMAN	cell division cycle 14B	270	B.				activation of anaphase-promoting complex activity (GO:0051488)|DNA repair (GO:0006281)|G2 DNA damage checkpoint (GO:0031572)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)	15		Acute lymphoblastic leukemia(62;0.0559)				AAAGCGTTTGGCATCATACAT	0.388																																						ENST00000375241.1																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)	15						c.(808-810)gCc>gGc		cell division cycle 14B							53	50	51					9																	99296346		2202	4291	6493	SO:0001583	missense	8555				activation of anaphase-promoting complex activity|DNA repair|G2/M transition DNA damage checkpoint	nucleolus|nucleoplasm	protein binding|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr9:99296346G>C	AF023158	CCDS6721.1, CCDS6722.1, CCDS43853.1	9q22.3	2013-01-17	2013-01-17		ENSG00000081377	ENSG00000081377		"Protein tyrosine phosphatases / Class I Cys-based PTPs : CDC14s"	1719	protein-coding gene	gene with protein product		603505	"CDC14 (cell division cycle 14, S. cerevisiae) homolog B", "CDC14 cell division cycle 14 homolog B (S. cerevisiae)"			9367992	Standard	NM_003671		Approved	Cdc14B1, Cdc14B2, CDC14B3, hCDC14B	uc004awj.3	O60729	OTTHUMG00000020300	ENST00000375241.1:c.809C>G	9.37:g.99296346G>C	ENSP00000364389:p.Ala270Gly					CDC14B_ENST00000375242.3_Missense_Mutation_p.A233G|CDC14B_ENST00000463569.1_Missense_Mutation_p.A270G|CDC14B_ENST00000265659.2_Missense_Mutation_p.A270G|CDC14B_ENST00000375236.1_Missense_Mutation_p.A270G|CDC14B_ENST00000375240.3_Missense_Mutation_p.A270G	p.A270G	NM_003671.3|NM_033331.2	NP_003662.1|NP_201588.1	O60729	CC14B_HUMAN			9	1260	-		Acute lymphoblastic leukemia(62;0.0559)	270			B.		A6N5X8|A8MQ20|B1AL31|B1AL32|O43183|O60730|Q5JU08	Missense_Mutation	SNP	ENST00000375241.1	37	c.809C>G	CCDS6722.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.39|17.39	3.378503|3.378503	0.61735|0.61735	.|.	.|.	ENSG00000081377|ENSG00000081377	ENST00000265659;ENST00000375241;ENST00000375240;ENST00000375242;ENST00000463569;ENST00000375236|ENST00000452280	T;T;T;T;T;T|.	0.22945|.	1.93;1.93;1.93;1.93;1.93;1.93|.	5.32|5.32	5.32|5.32	0.75619|0.75619	Dual specificity phosphatase, catalytic domain (1);|.	0.051317|.	0.85682|.	D|.	0.000000|.	T|T	0.74974|0.74974	0.3787|0.3787	M|M	0.66506|0.66506	2.035|2.035	0.80722|0.80722	D|D	1|1	B;B;B|.	0.30914|.	0.065;0.3;0.037|.	B;B;B|.	0.39419|.	0.095;0.299;0.045|.	T|T	0.72564|0.72564	-0.4255|-0.4255	10|5	0.66056|.	D|.	0.02|.	-7.7765|-7.7765	19.2011|19.2011	0.93712|0.93712	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	270;270;233|.	O60729-2;O60729;A8MQ20|.	.;CC14B_HUMAN;.|.	G|W	270;270;270;233;270;270|247	ENSP00000265659:A270G;ENSP00000364389:A270G;ENSP00000364388:A270G;ENSP00000364390:A233G;ENSP00000420572:A270G;ENSP00000364384:A270G|.	ENSP00000265659:A270G|.	A|C	-|-	2|3	0|2	CDC14B|CDC14B	98336167|98336167	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.946000|0.946000	0.59487|0.59487	7.681000|7.681000	0.84073|0.84073	2.773000|2.773000	0.95371|0.95371	0.585000|0.585000	0.79938|0.79938	GCC|TGC		0.388	CDC14B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053278.2	NM_033331		5	35	0	0	0	1	0	5	35					C	99296346	G	C	99296346	3	2	238	1	0	0	0	0	1	0	0	0	3057	1203	42	5	711	5	CDC14B	9	99296346	Missense_Mutation	SNP	G	TCGA-HC-8266-01A-11D-2260-08		99296346	41917085	21	11114											
PTPN3	5774	broad.mit.edu	37	chr9	112185091	112185091	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcatggctgggttccacaccAtcccgccaatcacctttttg	7	11	8	15	1	1	0	1	0	0	0	3	0	3	0	5	2	0	3	5	2	1	3			TCGA-HC-8266-01A-11D-2260-08	TCGA-HC-8266-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79d05b35-8616-4147-af78-8bf33fa45499	ef3312fd-0ef1-4d54-9cea-4bf59a6ebf85	g.chr9:112185091A>C	ENST00000374541.2	-	13	1147	c.1043T>G	c.(1042-1044)aTg>aGg	p.M348R	PTPN3_ENST00000412145.1_Missense_Mutation_p.M217R|PTPN3_ENST00000262539.3_Intron|PTPN3_ENST00000446349.1_Intron	NM_001145368.1|NM_002829.3	NP_001138840.1|NP_002820.3	P26045	PTN3_HUMAN	protein tyrosine phosphatase, non-receptor type 3	348					negative regulation of membrane protein ectodomain proteolysis (GO:0051045)|negative regulation of mitotic cell cycle (GO:0045930)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of membrane depolarization during action potential (GO:0098902)|regulation of sodium ion transmembrane transporter activity (GO:2000649)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoskeleton (GO:0005856)	ATPase binding (GO:0051117)|phosphotyrosine binding (GO:0001784)|protein tyrosine phosphatase activity (GO:0004725)|sodium channel regulator activity (GO:0017080)			breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						GTTCCACACCATCCCGCCAAT	0.463																																						ENST00000412145.1																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						c.(649-651)aTg>aGg		protein tyrosine phosphatase, non-receptor type 3							215	197	203					9																	112185091		2203	4300	6503	SO:0001583	missense	0				negative regulation of membrane protein ectodomain proteolysis|negative regulation of mitotic cell cycle	cytoplasm|cytoskeleton|internal side of plasma membrane	ATPase binding|cytoskeletal protein binding|phosphotyrosine binding|protein tyrosine phosphatase activity	g.chr9:112185091A>C		CCDS6776.1, CCDS48000.1, CCDS48001.1	9q31	2011-06-09			ENSG00000070159	ENSG00000070159		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"	9655	protein-coding gene	gene with protein product		176877				1648725	Standard	NM_002829		Approved	PTPH1	uc004bed.2	P26045	OTTHUMG00000020475	ENST00000374541.2:c.1043T>G	9.37:g.112185091A>C	ENSP00000363667:p.Met348Arg					PTPN3_ENST00000374541.2_Missense_Mutation_p.M348R|PTPN3_ENST00000262539.3_Intron|PTPN3_ENST00000446349.1_Intron	p.M217R	NM_001145369.1|NM_001145371.1	NP_001138841.1|NP_001138843.1	P26045	PTN3_HUMAN			8	3203	-			348			FERM.		A0AUW9|E7EN99|E9PGU7	Missense_Mutation	SNP	ENST00000374541.2	37	c.650T>G	CCDS6776.1	.	.	.	.	.	.	.	.	.	.	A	17.03	3.283882	0.59867	.	.	ENSG00000070159	ENST00000394831;ENST00000412145;ENST00000374541	D;D	0.81739	-1.53;-1.53	5.55	4.4	0.53042	.	0.081669	0.85682	D	0.000000	T	0.82001	0.4942	L	0.58101	1.795	0.80722	D	1	D	0.58970	0.984	P	0.51170	0.661	T	0.82208	-0.0571	10	0.59425	D	0.04	.	11.9495	0.52946	0.8698:0.0:0.0:0.1301	.	348	P26045	PTN3_HUMAN	R	348;217;348	ENSP00000416654:M217R;ENSP00000363667:M348R	ENSP00000363667:M348R	M	-	2	0	PTPN3	111224912	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.873000	0.63057	0.928000	0.37168	0.528000	0.53228	ATG		0.463	PTPN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053598.4			26	194	0	0	0	1	0	26	194					C	112185091	A	C	112185091	3	2	238	1	0	0	0	0	1	0	0	0	12789	217	8	5	1754	5	PTPN3	9	112185091	Missense_Mutation	SNP	A	TCGA-HC-8266-01A-11D-2260-08	12888745	112185091	29028340	22	11115											
BAT2L1	84726	broad.mit.edu	37	chr9	134321811	134321811	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgacaagctggagggagggcGgtgggcgacacataatttct	10	8	16	7	2	1	1	0	1	1	0	1	4	1	3	0	5	1	1	0	5	2	2			TCGA-HC-8266-01A-11D-2260-08	TCGA-HC-8266-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79d05b35-8616-4147-af78-8bf33fa45499	ef3312fd-0ef1-4d54-9cea-4bf59a6ebf85	g.chr9:134321811G>A	ENST00000357304.4	+	6	692	c.637G>A	c.(637-639)Ggt>Agt	p.G213S	PRRC2B_ENST00000372249.1_5'Flank|PRRC2B_ENST00000458550.1_Missense_Mutation_p.G213S|PRRC2B_ENST00000405995.1_Missense_Mutation_p.G213S	NM_013318.3	NP_037450.2	Q5JSZ5	PRC2B_HUMAN	proline-rich coiled-coil 2B	213							poly(A) RNA binding (GO:0044822)			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(20)|ovary(2)	44						GAGGGAGGGCGGTGGGCGACA	0.582																																						ENST00000357304.4																			0				cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(20)|ovary(2)	44						c.(637-639)Ggt>Agt		proline-rich coiled-coil 2B							41	42	42					9																	134321811		1944	4138	6082	SO:0001583	missense	84726						protein binding	g.chr9:134321811G>A	AB011087	CCDS48044.1	9q34.13	2010-12-09	2010-12-09	2010-12-09	ENSG00000130723	ENSG00000130723			28121	protein-coding gene	gene with protein product			"KIAA0515", "HLA-B associated transcript 2-like", "HLA-B associated transcript 2-like 1"	KIAA0515, BAT2L, BAT2L1		9628581	Standard	NM_013318		Approved	MGC10526, LQFBS-1	uc004can.4	Q5JSZ5	OTTHUMG00000020827	ENST00000357304.4:c.637G>A	9.37:g.134321811G>A	ENSP00000349856:p.Gly213Ser					PRRC2B_ENST00000405995.1_Missense_Mutation_p.G213S|PRRC2B_ENST00000458550.1_Missense_Mutation_p.G213S	p.G213S	NM_013318.3	NP_037450.2	Q5JSZ5	PRC2B_HUMAN			6	692	+			213					O60270|Q5JSZ7|Q66VZ2|Q68CR0|Q96EI9|Q9H683	Missense_Mutation	SNP	ENST00000357304.4	37	c.637G>A	CCDS48044.1	.	.	.	.	.	.	.	.	.	.	G	34	5.377312	0.95945	.	.	ENSG00000130723	ENST00000405995;ENST00000541684;ENST00000357304;ENST00000458550	T;T;T	0.09538	2.97;3.24;2.97	5.24	5.24	0.73138	.	0.000000	0.42548	U	0.000699	T	0.36496	0.0969	M	0.79475	2.455	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.04090	-1.0978	10	0.62326	D	0.03	-16.5053	18.3537	0.90348	0.0:0.0:1.0:0.0	.	213	Q5JSZ5	PRC2B_HUMAN	S	213	ENSP00000384606:G213S;ENSP00000349856:G213S;ENSP00000398853:G213S	ENSP00000349856:G213S	G	+	1	0	PRRC2B	133311632	1.000000	0.71417	1.000000	0.80357	1.000000	0.99986	8.681000	0.91228	2.884000	0.98904	0.655000	0.94253	GGT		0.582	PRRC2B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				3	88	0	0	0	1	0	3	88					A	134321811	G	A	134321811	3	1	238	1	0	0	0	0	1	0	0	0	1320	1116	39	2	659	2	BAT2L1	9	134321811	Missense_Mutation	SNP	G	TCGA-HC-8266-01A-11D-2260-08	22136720	134321811	6891620	23	11116											
C9orf96	169436	broad.mit.edu	37	chr9	136260870	136260870	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgatgctccagatcgacccCtcggatcgaataacgataaa	13	9	8	11	4	0	2	0	1	0	1	4	6	1	3	3	1	2	1	3	1	4	3			TCGA-HC-8266-01A-11D-2260-08	TCGA-HC-8266-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79d05b35-8616-4147-af78-8bf33fa45499	ef3312fd-0ef1-4d54-9cea-4bf59a6ebf85	g.chr9:136260870C>G	ENST00000371957.3	+	9	953	c.846C>G	c.(844-846)ccC>ccG	p.P282P	C9orf96_ENST00000371955.1_5'UTR	NM_153710.3	NP_714921.4	Q8NE28	STKL1_HUMAN		282	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.						ATP binding (GO:0005524)|protein kinase activity (GO:0004672)			autonomic_ganglia(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(10)|ovary(2)|stomach(2)	25				OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05)		AGATCGACCCCTCGGATCGAA	0.493																																						ENST00000371957.3																			0				autonomic_ganglia(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(10)|ovary(2)|stomach(2)	25						c.(844-846)ccC>ccG		chromosome 9 open reading frame 96							73	80	77					9																	136260870		2203	4300	6503	SO:0001819	synonymous_variant	169436						ATP binding|protein kinase activity	g.chr9:136260870C>G																												ENST00000371957.3:c.846C>G	9.37:g.136260870C>G						C9orf96_ENST00000371955.1_5'UTR	p.P282P	NM_153710.3	NP_714921.3	Q8NE28	SGK71_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05)	9	953	+			282			Protein kinase.		Q5T8U8|Q6ZMP6|Q6ZMQ5	Silent	SNP	ENST00000371957.3	37	c.846C>G	CCDS35169.1																																																																																				0.493	C9orf96-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054855.1			21	51	0	0	0	1	0	21	51					G	136260870	C	G	136260870	2	3	238	1	0	0	0	0	0	0	0	1	2508	668	24	5		5	C9orf96	9	136260870	Silent	SNP	C	TCGA-HC-8266-01A-11D-2260-08	1939059	136260870	4952561	24	11117											
GPR158	57512	broad.mit.edu	37	chr10	25888046	25888046	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aagtaataacttccagcaacCtttaacatcacgagcagagg	16	8	7	10	1	1	1	1	0	0	1	2	2	2	1	2	1	5	3	2	1	5	5			TCGA-HC-8266-01A-11D-2260-08	TCGA-HC-8266-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79d05b35-8616-4147-af78-8bf33fa45499	ef3312fd-0ef1-4d54-9cea-4bf59a6ebf85	g.chr10:25888046C>T	ENST00000376351.3	+	11	3850	c.3491C>T	c.(3490-3492)cCt>cTt	p.P1164L	GPR158_ENST00000490549.1_3'UTR	NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158	1164					protein localization to plasma membrane (GO:0072659)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						TTCCAGCAACCTTTAACATCA	0.433																																						ENST00000376351.3																			0				breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						c.(3490-3492)cCt>cTt		G protein-coupled receptor 158							61	63	62					10																	25888046		2203	4300	6503	SO:0001583	missense	57512					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr10:25888046C>T	AB032962	CCDS31166.1	10p12.31	2012-08-21			ENSG00000151025	ENSG00000151025		"GPCR / Class C : Orphans"	23689	protein-coding gene	gene with protein product		614573					Standard	NM_020752		Approved	KIAA1136	uc001isj.3	Q5T848	OTTHUMG00000017832	ENST00000376351.3:c.3491C>T	10.37:g.25888046C>T	ENSP00000365529:p.Pro1164Leu					GPR158_ENST00000490549.1_3'UTR	p.P1164L	NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN			11	3850	+			1164					Q6QR81|Q9ULT3	Missense_Mutation	SNP	ENST00000376351.3	37	c.3491C>T	CCDS31166.1	.	.	.	.	.	.	.	.	.	.	C	10.56	1.385082	0.25031	.	.	ENSG00000151025	ENST00000376351	T	0.64085	-0.08	5.47	5.47	0.80525	.	0.158034	0.44483	D	0.000449	T	0.55305	0.1912	L	0.32530	0.975	0.80722	D	1	B	0.13594	0.008	B	0.08055	0.003	T	0.50250	-0.8850	10	0.49607	T	0.09	.	19.3388	0.94332	0.0:1.0:0.0:0.0	.	1164	Q5T848	GP158_HUMAN	L	1164	ENSP00000365529:P1164L	ENSP00000365529:P1164L	P	+	2	0	GPR158	25928052	0.885000	0.30320	0.036000	0.18154	0.010000	0.07245	1.594000	0.36697	2.553000	0.86117	0.655000	0.94253	CCT		0.433	GPR158-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047248.2	XM_166110		5	41	0	0	0	1	0	5	41					T	25888046	C	T	25888046	3	4	238	1	0	0	0	0	1	0	0	0	6663	681	24	3	3533	3	GPR158	10	25888046	Missense_Mutation	SNP	C	TCGA-HC-8266-01A-11D-2260-08		25888046	109646701	25	11118											
MYO3A	53904	broad.mit.edu	37	chr10	26462763	26462763	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agagtgtatcagactccaaaAaaaatgaataatgtgtatga	19	10	8	4	0	1	4	1	2	0	2	2	4	2	4	1	0	0	2	1	0	8	3			TCGA-HC-8266-01A-11D-2260-08	TCGA-HC-8266-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79d05b35-8616-4147-af78-8bf33fa45499	ef3312fd-0ef1-4d54-9cea-4bf59a6ebf85	g.chr10:26462763A>G	ENST00000265944.5	+	30	3736	c.3570A>G	c.(3568-3570)aaA>aaG	p.K1190K	MYO3A_ENST00000543632.1_Intron	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	1190					ATP catabolic process (GO:0006200)|inner ear development (GO:0048839)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of filopodium assembly (GO:0051491)|protein autophosphorylation (GO:0046777)|response to stimulus (GO:0050896)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|filamentous actin (GO:0031941)|filopodium (GO:0030175)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|photoreceptor inner segment (GO:0001917)|stereocilium bundle tip (GO:0032426)	actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|plus-end directed microfilament motor activity (GO:0060002)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						AGACTCCAAAAAAAATGAATA	0.408																																						ENST00000265944.5																			0				NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						c.(3568-3570)aaA>aaG		myosin IIIA							68	67	68					10																	26462763		2203	4300	6503	SO:0001819	synonymous_variant	53904				protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity	g.chr10:26462763A>G	AF229172	CCDS7148.1	10p11.1	2011-09-27	2004-05-19		ENSG00000095777	ENSG00000095777		"Myosins / Myosin superfamily : Class III"	7601	protein-coding gene	gene with protein product		606808	"deafness, autosomal recessive 30"	DFNB30		10936054	Standard	NM_017433		Approved		uc001isn.2	Q8NEV4	OTTHUMG00000017837	ENST00000265944.5:c.3570A>G	10.37:g.26462763A>G						MYO3A_ENST00000543632.1_Intron	p.K1190K	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN			30	3736	+			1190					Q4G0X2|Q5VZ28|Q8WX17|Q9NYS8	Silent	SNP	ENST00000265944.5	37	c.3570A>G	CCDS7148.1																																																																																				0.408	MYO3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047259.1	NM_017433		8	39	0	0	0	1	0	8	39					G	26462763	A	G	26462763	2	3	238	1	0	0	0	0	0	0	0	1	10076	11	1	4		4	MYO3A	10	26462763	Silent	SNP	A	TCGA-HC-8266-01A-11D-2260-08	574717	26462763	109071984	26	11119											
CTSD	1509	broad.mit.edu	37	chr11	1780798	1780798	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaggggacccacaggttggaGgagcccgtgtcgaagacgac	10	4	17	10	3	0	1	0	0	0	1	1	7	0	4	2	5	1	1	2	5	1	1			TCGA-HC-8266-01A-11D-2260-08	TCGA-HC-8266-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79d05b35-8616-4147-af78-8bf33fa45499	ef3312fd-0ef1-4d54-9cea-4bf59a6ebf85	g.chr11:1780798G>A	ENST00000236671.2	-	3	432	c.300C>T	c.(298-300)tcC>tcT	p.S100S	RP11-295K3.1_ENST00000427721.1_5'Flank|AC068580.6_ENST00000449248.1_RNA	NM_001909.4	NP_001900.1	P07339	CATD_HUMAN	cathepsin D	100					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|autophagic vacuole assembly (GO:0000045)|cell death (GO:0008219)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)|mitochondrion (GO:0005739)	aspartic-type endopeptidase activity (GO:0004190)			endometrium(1)|large_intestine(4)|lung(8)	13		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00136)|Lung(200;0.0684)|LUSC - Lung squamous cell carcinoma(625;0.0822)	"""Insulin(DB00071)|Insulin Regular(DB00030)"	ACAGGTTGGAGGAGCCCGTGT	0.652																																						ENST00000236671.2																			0				endometrium(1)|large_intestine(4)|lung(8)	13						c.(298-300)tcC>tcT		cathepsin D	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)						67	64	65					11																	1780798		2202	4299	6501	SO:0001819	synonymous_variant	1509				cell death|proteolysis	extracellular space|lysosome|melanosome	aspartic-type endopeptidase activity	g.chr11:1780798G>A	M11233	CCDS7725.1	11p15.5	2009-06-26	2006-12-05		ENSG00000117984	ENSG00000117984	3.4.23.5	"Cathepsins"	2529	protein-coding gene	gene with protein product	"ceroid-lipofuscinosis, neuronal 10"	116840	"cathepsin D (lysosomal aspartyl protease)"	CPSD		3927292	Standard	NM_001909		Approved	CLN10	uc001luc.2	P07339	OTTHUMG00000044760	ENST00000236671.2:c.300C>T	11.37:g.1780798G>A							p.S100S	NM_001909.4	NP_001900.1	P07339	CATD_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00136)|Lung(200;0.0684)|LUSC - Lung squamous cell carcinoma(625;0.0822)	3	432	-		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	100					Q6IB57	Silent	SNP	ENST00000236671.2	37	c.300C>T	CCDS7725.1																																																																																				0.652	CTSD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000104272.5	NM_001909		3	61	0	0	0	1	0	3	61					A	1780798	G	A	1780798	2	1	238	1	0	0	0	0	0	0	0	1	4032	987	35	3		3	CTSD	11	1780798	Silent	SNP	G	TCGA-HC-8266-01A-11D-2260-08		1780798	133225718	27	11120											
PDE3B	5140	broad.mit.edu	37	chr11	14808089	14808089	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tccaccacaagtcatttcctCtctacggagtattagtagct	10	13	6	12	1	2	0	1	0	1	0	5	1	4	1	3	1	2	3	3	1	5	5			TCGA-HC-8266-01A-11D-2260-08	TCGA-HC-8266-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79d05b35-8616-4147-af78-8bf33fa45499	ef3312fd-0ef1-4d54-9cea-4bf59a6ebf85	g.chr11:14808089C>T	ENST00000282096.4	+	3	1489	c.1136C>T	c.(1135-1137)tCt>tTt	p.S379F	PDE3B_ENST00000455098.2_Intron	NM_000922.3	NP_000913.2	Q13370	PDE3B_HUMAN	phosphodiesterase 3B, cGMP-inhibited	379					angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cellular response to insulin stimulus (GO:0032869)|endocrine pancreas development (GO:0031018)|glucose homeostasis (GO:0042593)|insulin receptor signaling pathway (GO:0008286)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cAMP-mediated signaling (GO:0043951)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell adhesion mediated by integrin (GO:0033629)|negative regulation of lipid catabolic process (GO:0050995)|regulation of insulin secretion (GO:0050796)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|guanyl-nucleotide exchange factor complex (GO:0032045)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity (GO:0004119)|metal ion binding (GO:0046872)|protein kinase B binding (GO:0043422)			NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(15)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39					Caffeine(DB00201)	GTCATTTCCTCTCTACGGAGT	0.448																																						ENST00000282096.4																			0				NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(15)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						c.(1135-1137)tCt>tTt		phosphodiesterase 3B, cGMP-inhibited							181	189	186					11																	14808089		2200	4294	6494	SO:0001583	missense	5140				cAMP catabolic process|insulin receptor signaling pathway|negative regulation of lipid catabolic process|platelet activation	cytosol|endoplasmic reticulum|Golgi apparatus|guanyl-nucleotide exchange factor complex|integral to membrane|microsome	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding|protein kinase B binding	g.chr11:14808089C>T	U38178	CCDS7817.1	11p15.2	2008-03-18			ENSG00000152270	ENSG00000152270	3.1.4.17	"Phosphodiesterases"	8779	protein-coding gene	gene with protein product		602047				8884271, 16395595	Standard	NM_000922		Approved	HcGIP1	uc001mln.3	Q13370	OTTHUMG00000165898	ENST00000282096.4:c.1136C>T	11.37:g.14808089C>T	ENSP00000282096:p.Ser379Phe					PDE3B_ENST00000455098.2_Intron	p.S379F	NM_000922.3	NP_000913.2	Q13370	PDE3B_HUMAN			3	1489	+			379					B7ZM37|O00639|Q14408|Q6SEI4	Missense_Mutation	SNP	ENST00000282096.4	37	c.1136C>T	CCDS7817.1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.283472	0.80803	.	.	ENSG00000152270	ENST00000282096	T	0.39229	1.09	5.72	4.77	0.60923	.	1.758080	0.02595	N	0.100455	T	0.63462	0.2513	M	0.73962	2.25	0.80722	D	1	D	0.56035	0.974	P	0.52267	0.694	T	0.56007	-0.8050	10	0.87932	D	0	.	16.1532	0.81636	0.1339:0.8661:0.0:0.0	.	379	Q13370	PDE3B_HUMAN	F	379	ENSP00000282096:S379F	ENSP00000282096:S379F	S	+	2	0	PDE3B	14764665	0.999000	0.42202	1.000000	0.80357	0.921000	0.55340	3.569000	0.53827	2.696000	0.92011	0.558000	0.71614	TCT		0.448	PDE3B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000386974.1	NM_000922		25	117	0	0	0	1	0	25	117					T	14808089	C	T	14808089	3	4	238	1	0	0	0	0	1	0	0	0	11638	913	32	3	1146	3	PDE3B	11	14808089	Missense_Mutation	SNP	C	TCGA-HC-8266-01A-11D-2260-08	13027291	14808089	120198427	28	11121											
NAV2	89797	broad.mit.edu	37	chr11	19914062	19914062	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caactactgctaacaaccgaCgcagccagagctttaacaac	15	6	6	14	2	0	1	0	0	0	1	0	2	0	1	2	0	9	3	2	0	6	4	rs200244681	byFrequency	TCGA-HC-8266-01A-11D-2260-08	TCGA-HC-8266-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79d05b35-8616-4147-af78-8bf33fa45499	ef3312fd-0ef1-4d54-9cea-4bf59a6ebf85	g.chr11:19914062C>T	ENST00000396087.3	+	7	1021	c.922C>T	c.(922-924)Cgc>Tgc	p.R308C	NAV2_ENST00000527559.2_Missense_Mutation_p.R237C|NAV2_ENST00000360655.4_Missense_Mutation_p.R221C|NAV2_ENST00000540292.1_Missense_Mutation_p.R239C|NAV2_ENST00000396085.1_Missense_Mutation_p.R285C|NAV2_ENST00000349880.4_Missense_Mutation_p.R285C	NM_001244963.1	NP_001231892.1	Q8IVL1	NAV2_HUMAN	neuron navigator 2	308					glossopharyngeal nerve development (GO:0021563)|locomotory behavior (GO:0007626)|optic nerve development (GO:0021554)|regulation of systemic arterial blood pressure by baroreceptor feedback (GO:0003025)|sensory perception of smell (GO:0007608)|sensory perception of sound (GO:0007605)|vagus nerve development (GO:0021564)	interstitial matrix (GO:0005614)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|heparin binding (GO:0008201)	p.R308C(1)		NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						TAACAACCGACGCAGCCAGAG	0.547													C|||	3	0.000599042	0.0015	0	5008	,	,		17547	0		0.001	False		,,,				2504	0					ENST00000396085.1																			1	Substitution - Missense(1)	p.R308C(1)	upper_aerodigestive_tract(1)	NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						c.(853-855)Cgc>Tgc		neuron navigator 2		C	CYS/ARG,CYS/ARG,CYS/ARG	0,4398		0,0,2199	101	91	95		661,853,853	5.9	1	11	dbSNP_134	95	2,8584	2.2+/-6.3	0,2,4291	yes	missense,missense,missense	NAV2	NM_001111018.1,NM_145117.4,NM_182964.5	180,180,180	0,2,6490	TT,TC,CC		0.0233,0.0,0.0154	probably-damaging,probably-damaging,probably-damaging	221/2366,285/2430,285/2433	19914062	2,12982	2199	4293	6492	SO:0001583	missense	89797					nucleus	ATP binding|helicase activity	g.chr11:19914062C>T	AB037840	CCDS7850.1, CCDS7851.2, CCDS44552.1, CCDS53612.1, CCDS58126.1	11p15.1	2008-07-18			ENSG00000166833	ENSG00000166833	3.6.1.1		15997	protein-coding gene	gene with protein product	"pore membrane and/or filament interacting like protein 2", "retinoic acid inducible gene in neuroblastoma 1", "helicase, APC down-regulated 1"	607026				12079279, 12062803	Standard	NM_145117		Approved	FLJ10633, FLJ11030, HELAD1, KIAA1419, POMFIL2, RAINB1, FLJ23707	uc010rdm.2	Q8IVL1	OTTHUMG00000151837	ENST00000396087.3:c.922C>T	11.37:g.19914062C>T	ENSP00000379396:p.Arg308Cys					NAV2_ENST00000360655.4_Missense_Mutation_p.R221C|NAV2_ENST00000527559.2_Missense_Mutation_p.R237C|NAV2_ENST00000349880.4_Missense_Mutation_p.R285C|NAV2_ENST00000540292.1_Missense_Mutation_p.R239C|NAV2_ENST00000396087.3_Missense_Mutation_p.R308C	p.R285C	NM_182964.5	NP_892009.3	Q8IVL1	NAV2_HUMAN			6	1214	+			308					A6NEC1|Q8IVK3|Q8IVK4|Q8IVK5|Q8IVK6|Q8IVK7|Q8IVK8|Q8NHC9|Q8NHD0|Q8TDE9|Q8TDF0|Q8TEB3|Q96B30|Q9NUZ6|Q9NVM7|Q9P2C8	Missense_Mutation	SNP	ENST00000396087.3	37	c.853C>T	CCDS58126.1	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	C	29.7	5.025602	0.93518	0.0	2.33E-4	ENSG00000166833	ENST00000360655;ENST00000396085;ENST00000349880;ENST00000396087;ENST00000527559;ENST00000540292	T;T;T;T;T;T	0.49139	1.27;1.37;1.37;0.88;0.79;0.8	5.94	5.94	0.96194	.	0.000000	0.64402	D	0.000013	T	0.64483	0.2602	M	0.64997	1.995	0.80722	D	1	D;D	0.71674	0.998;0.998	P;P	0.61201	0.858;0.885	T	0.60929	-0.7165	9	.	.	.	.	18.1653	0.89723	0.0:1.0:0.0:0.0	.	285;221	Q8IVL1-3;Q8IVL1-4	.;.	C	221;285;285;308;237;239	ENSP00000353871:R221C;ENSP00000379394:R285C;ENSP00000309577:R285C;ENSP00000379396:R308C;ENSP00000435395:R237C;ENSP00000443489:R239C	.	R	+	1	0	NAV2	19870638	1.000000	0.71417	0.989000	0.46669	0.976000	0.68499	5.653000	0.67967	2.824000	0.97209	0.650000	0.86243	CGC		0.547	NAV2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324112.1	NM_145117		9	43	0	0	0	1	0	9	43					T	19914062	C	T	19914062	3	4	238	1	0	0	0	0	1	0	0	0	10184	536	19	1	954	1	NAV2	11	19914062	Missense_Mutation	SNP	C	TCGA-HC-8266-01A-11D-2260-08	5105973	19914062	115092454	29	11122											
MAP3K11	4296	broad.mit.edu	37	chr11	65375265	65375265	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gaggcgaagtcgggcctgcgGtgggggtcctgcgcccagca	5	5	19	12	4	0	0	0	0	0	0	2	2	1	0	3	5	3	1	3	5	1	0			TCGA-HC-8266-01A-11D-2260-08	TCGA-HC-8266-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79d05b35-8616-4147-af78-8bf33fa45499	ef3312fd-0ef1-4d54-9cea-4bf59a6ebf85	g.chr11:65375265G>A	ENST00000530153.1	-	4	842	c.321C>T	c.(319-321)caC>caT	p.H107H	MAP3K11_ENST00000534432.1_5'Flank|MAP3K11_ENST00000309100.3_Silent_p.H364H|MAP3K11_ENST00000532507.1_5'Flank					mitogen-activated protein kinase kinase kinase 11											breast(3)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(14)|skin(1)	24						CGGGCCTGCGGTGGGGGTCCT	0.652																																						ENST00000309100.3																			0				breast(3)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(14)|skin(1)	24						c.(1090-1092)caC>caT		mitogen-activated protein kinase kinase kinase 11							31	35	34					11																	65375265		2201	4296	6497	SO:0001819	synonymous_variant	4296				activation of JUN kinase activity|cell proliferation|G1 phase of mitotic cell cycle|microtubule-based process|positive regulation of JNK cascade|protein autophosphorylation	centrosome|microtubule	ATP binding|JUN kinase kinase kinase activity|mitogen-activated protein kinase kinase kinase binding|protein homodimerization activity	g.chr11:65375265G>A		CCDS8107.1	11q13.1-q13.3	2011-06-09			ENSG00000173327	ENSG00000173327	2.7.10.1	"Mitogen-activated protein kinase cascade / Kinase kinase kinases"	6850	protein-coding gene	gene with protein product		600050		MLK3, PTK1		9267807, 8183572	Standard	NM_002419		Approved	SPRK, MEKK11	uc001oew.3	Q16584	OTTHUMG00000166529	ENST00000530153.1:c.321C>T	11.37:g.65375265G>A						MAP3K11_ENST00000530153.1_Silent_p.H107H	p.H364H	NM_002419.3	NP_002410.1	Q16584	M3K11_HUMAN			4	1577	-			364			Protein kinase.			Silent	SNP	ENST00000530153.1	37	c.1092C>T																																																																																					0.652	MAP3K11-004	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000390233.2			9	49	0	0	0	1	0	9	49					A	65375265	G	A	65375265	2	1	238	1	0	0	0	0	0	0	0	1	9245	1252	44	3		3	MAP3K11	11	65375265	Silent	SNP	G	TCGA-HC-8266-01A-11D-2260-08	45461203	65375265	69631251	30	11123											
PICALM	8301	broad.mit.edu	37	chr11	85725995	85725995	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctgtgttcattgttctcataActccatcagccctgttatga	8	16	6	11	0	3	1	3	1	1	0	5	1	4	1	2	0	2	3	2	0	2	5			TCGA-HC-8266-01A-11D-2260-08	TCGA-HC-8266-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79d05b35-8616-4147-af78-8bf33fa45499	ef3312fd-0ef1-4d54-9cea-4bf59a6ebf85	g.chr11:85725995A>G	ENST00000393346.3	-	5	612	c.464T>C	c.(463-465)gTt>gCt	p.V155A	PICALM_ENST00000356360.5_Missense_Mutation_p.V155A|PICALM_ENST00000526033.1_Missense_Mutation_p.V155A|PICALM_ENST00000528398.1_Missense_Mutation_p.V104A|PICALM_ENST00000532317.1_Missense_Mutation_p.V155A			Q13492	PICAL_HUMAN	phosphatidylinositol binding clathrin assembly protein	155					axonogenesis (GO:0007409)|cargo loading into vesicle (GO:0035459)|cell proliferation (GO:0008283)|clathrin coat assembly (GO:0048268)|clathrin-mediated endocytosis (GO:0072583)|dendrite morphogenesis (GO:0048813)|endosomal transport (GO:0016197)|hemopoiesis (GO:0030097)|iron ion homeostasis (GO:0055072)|iron ion import into cell (GO:0097459)|negative regulation of gene expression (GO:0010629)|negative regulation of metalloendopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902963)|negative regulation of receptor-mediated endocytosis (GO:0048261)|positive regulation of aspartic-type endopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902961)|positive regulation of beta-amyloid formation (GO:1902004)|positive regulation of neuron death (GO:1901216)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|receptor internalization (GO:0031623)|receptor-mediated endocytosis (GO:0006898)|regulation of aspartic-type endopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902959)|regulation of endocytosis (GO:0030100)|regulation of protein localization (GO:0032880)|synaptic vesicle maturation (GO:0016188)|vesicle-mediated transport (GO:0016192)	clathrin coat (GO:0030118)|coated pit (GO:0005905)|cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|neurofibrillary tangle (GO:0097418)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|vesicle (GO:0031982)	1-phosphatidylinositol binding (GO:0005545)|clathrin adaptor activity (GO:0035615)|clathrin binding (GO:0030276)|clathrin heavy chain binding (GO:0032050)			endometrium(1)|kidney(2)|large_intestine(2)|liver(1)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	19		Acute lymphoblastic leukemia(157;7.42e-07)|all_hematologic(158;0.00092)				TGTTCTCATAACTCCATCAGC	0.333			T	"MLLT10, MLL"	"TALL, AML, "																																	ENST00000526033.1				Dom	yes		11	11q14	8301	T	phosphatidylinositol binding clathrin assembly protein (CALM)			L	"MLLT10, MLL"		"TALL, AML, "		0				endometrium(1)|kidney(2)|large_intestine(2)|liver(1)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	19						c.(463-465)gTt>gCt		phosphatidylinositol binding clathrin assembly protein							116	107	110					11																	85725995		2200	4295	6495	SO:0001583	missense	8301				clathrin coat assembly|endosome transport|negative regulation of receptor-mediated endocytosis|positive regulation of transcription, DNA-dependent|receptor internalization|regulation of protein localization	clathrin coat|clathrin-coated vesicle|coated pit|Golgi apparatus|nucleus|postsynaptic membrane|presynaptic membrane	1-phosphatidylinositol binding|clathrin heavy chain binding	g.chr11:85725995A>G	BC048259	CCDS8272.1, CCDS31653.1, CCDS55783.1, CCDS55784.1	11q14	2008-02-01			ENSG00000073921	ENSG00000073921			15514	protein-coding gene	gene with protein product		603025				8643484	Standard	NM_001206947		Approved	CALM, CLTH	uc001pbm.3	Q13492	OTTHUMG00000166981	ENST00000393346.3:c.464T>C	11.37:g.85725995A>G	ENSP00000377015:p.Val155Ala					PICALM_ENST00000393346.3_Missense_Mutation_p.V155A|PICALM_ENST00000356360.5_Missense_Mutation_p.V155A|PICALM_ENST00000532317.1_Missense_Mutation_p.V155A|PICALM_ENST00000528398.1_Missense_Mutation_p.V104A	p.V155A	NM_001206946.1|NM_007166.3	NP_001193875.1|NP_009097.2	Q13492	PICAL_HUMAN			5	780	-		Acute lymphoblastic leukemia(157;7.42e-07)|all_hematologic(158;0.00092)	155					B4DTM3|E9PN05|F8VPG7|O60700|Q4LE54|Q6GMQ6|Q86XZ9	Missense_Mutation	SNP	ENST00000393346.3	37	c.464T>C	CCDS8272.1	.	.	.	.	.	.	.	.	.	.	A	17.93	3.509321	0.64522	.	.	ENSG00000073921	ENST00000532317;ENST00000526033;ENST00000447890;ENST00000393346;ENST00000528398;ENST00000356360;ENST00000531930;ENST00000525162;ENST00000528256	T;T;T;T;T;T;T;T	0.28454	1.61;1.61;1.61;1.61;1.61;1.61;1.61;1.61	4.98	4.98	0.66077	ANTH (1);	0.000000	0.85682	D	0.000000	T	0.46737	0.1408	L	0.42245	1.32	0.80722	D	1	D;D;B;D	0.89917	0.993;0.999;0.295;1.0	D;D;P;D	0.81914	0.993;0.992;0.577;0.995	T	0.32561	-0.9902	9	.	.	.	-5.9655	14.9913	0.71390	1.0:0.0:0.0:0.0	.	104;155;155;155	E9PN05;F8VPG7;Q13492;Q13492-3	.;.;PICAL_HUMAN;.	A	155;155;155;155;104;155;121;104;121	ENSP00000436958:V155A;ENSP00000433846:V155A;ENSP00000377015:V155A;ENSP00000434884:V104A;ENSP00000348718:V155A;ENSP00000433303:V121A;ENSP00000436508:V104A;ENSP00000431545:V121A	.	V	-	2	0	PICALM	85403643	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.287000	0.95975	1.994000	0.58287	0.477000	0.44152	GTT		0.333	PICALM-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392224.1	NM_007166		3	13	0	0	0	1	0	3	13					G	85725995	A	G	85725995	3	3	238	1	0	0	0	0	1	0	0	0	11880	43	2	4	1586	4	PICALM	11	85725995	Missense_Mutation	SNP	A	TCGA-HC-8266-01A-11D-2260-08	20350730	85725995	49280521	31	11124											
SIK3	23387	broad.mit.edu	37	chr11	116729075	116729075	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ctgtgcaaactctgttggggGcagccggatgtccgagtggc	6	9	16	10	2	1	0	0	0	1	0	2	2	2	1	2	4	3	3	2	4	1	1			TCGA-HC-8266-01A-11D-2260-08	TCGA-HC-8266-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79d05b35-8616-4147-af78-8bf33fa45499	ef3312fd-0ef1-4d54-9cea-4bf59a6ebf85	g.chr11:116729075G>A	ENST00000292055.4	-	20	2823	c.2788C>T	c.(2788-2790)Ccc>Tcc	p.P930S	SIK3_ENST00000434315.2_Missense_Mutation_p.P769S|SIK3_ENST00000375300.1_Missense_Mutation_p.P988S|SIK3_ENST00000375288.1_Missense_Mutation_p.P265S|SIK3_ENST00000542607.1_Missense_Mutation_p.P870S|SIK3_ENST00000446921.2_Missense_Mutation_p.P928S|AP006216.12_ENST00000444200.1_RNA|SIK3_ENST00000488337.1_5'UTR	NM_025164.3	NP_079440.3	Q9Y2K2	SIK3_HUMAN	SIK family kinase 3	930	Gln-rich.				protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	57						TCTGTTGGGGGCAGCCGGATG	0.567																																						ENST00000375300.1																			0				breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	57						c.(2962-2964)Ccc>Tcc		SIK family kinase 3							57	58	58					11																	116729075		2201	4296	6497	SO:0001583	missense	23387					cytoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity	g.chr11:116729075G>A	AB023216	CCDS8379.1, CCDS60974.1, CCDS8379.2	11q23.3	2010-02-17			ENSG00000160584	ENSG00000160584			29165	protein-coding gene	gene with protein product		614776				10231032, 8889548	Standard	NM_025164		Approved	FLJ12240, L19, KIAA0999, QSK	uc001ppy.3	Q9Y2K2	OTTHUMG00000066628	ENST00000292055.4:c.2788C>T	11.37:g.116729075G>A	ENSP00000292055:p.Pro930Ser					SIK3_ENST00000488337.1_5'UTR|SIK3_ENST00000542607.1_Missense_Mutation_p.P870S|SIK3_ENST00000375288.1_Missense_Mutation_p.P265S|SIK3_ENST00000446921.2_Missense_Mutation_p.P928S|SIK3_ENST00000292055.4_Missense_Mutation_p.P930S|SIK3_ENST00000434315.2_Missense_Mutation_p.P769S	p.P988S			Q9Y2K2	SIK3_HUMAN			20	2967	-			930					A1A5A8|Q59FY2|Q5M9N1|Q6P3R6|Q8IYM8|Q9HA50	Missense_Mutation	SNP	ENST00000292055.4	37	c.2962C>T	CCDS8379.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	27.3|27.3	4.816155|4.816155	0.90790|0.90790	.|.	.|.	ENSG00000160584|ENSG00000160584	ENST00000445177;ENST00000446921|ENST00000375300;ENST00000292055;ENST00000375288;ENST00000542607;ENST00000434315	.|T;T;T;T;T	.|0.36520	.|1.25;1.25;1.25;1.25;1.25	5.67|5.67	5.67|5.67	0.87782|0.87782	.|.	.|0.000000	.|0.41294	.|U	.|0.000912	T|T	0.52789|0.52789	0.1756|0.1756	L|L	0.34521|0.34521	1.04|1.04	0.80722|0.80722	D|D	1|1	.|D;D;D;D;D	.|0.89917	.|1.0;1.0;1.0;1.0;1.0	.|D;D;D;D;D	.|0.91635	.|0.999;0.998;0.998;0.998;0.999	T|T	0.54153|0.54153	-0.8336|-0.8336	5|10	.|0.87932	.|D	.|0	.|.	19.7711|19.7711	0.96366|0.96366	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|930;870;769;930;265	.|Q9Y2K2-3;A1A5A8;A1A5A9;Q9Y2K2;Q9Y2K2-2	.|.;.;.;SIK3_HUMAN;.	V|S	1029;892|988;930;265;870;769	.|ENSP00000364449:P988S;ENSP00000292055:P930S;ENSP00000364437:P265S;ENSP00000438108:P870S;ENSP00000415873:P769S	.|ENSP00000292055:P930S	A|P	-|-	2|1	0|0	SIK3|SIK3	116234285|116234285	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.989000|0.989000	0.77384|0.77384	8.979000|8.979000	0.93455|0.93455	2.654000|2.654000	0.90174|0.90174	0.655000|0.655000	0.94253|0.94253	GCC|CCC		0.567	SIK3-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		NM_025164		3	42	0	0	0	1	0	3	42					A	116729075	G	A	116729075	3	1	238	1	0	0	0	0	1	0	0	0	14319	1203	42	3	1019	3	SIK3	11	116729075	Missense_Mutation	SNP	G	TCGA-HC-8266-01A-11D-2260-08	31003080	116729075	18277441	32	11125											
TRAPPC4	51399	broad.mit.edu	37	chr11	118889681	118889681	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ccagcgggacggcatccgagGtgggctaggctcgggcccgt	5	5	18	13	5	0	0	0	0	0	0	2	2	1	1	3	6	1	3	3	6	1	1			TCGA-HC-8266-01A-11D-2260-08	TCGA-HC-8266-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79d05b35-8616-4147-af78-8bf33fa45499	ef3312fd-0ef1-4d54-9cea-4bf59a6ebf85	g.chr11:118889681G>A	ENST00000533632.1	+	1	539		c.e1+1		TRAPPC4_ENST00000528230.1_Splice_Site|MIR3656_ENST00000577421.1_RNA|TRAPPC4_ENST00000533058.1_Splice_Site|TRAPPC4_ENST00000434101.2_Splice_Site|RPS25_ENST00000527673.1_5'Flank|TRAPPC4_ENST00000359005.4_Splice_Site|RPS25_ENST00000528547.1_5'Flank|TRAPPC4_ENST00000525303.1_Splice_Site	NM_016146.4	NP_057230.1	Q9Y296	TPPC4_HUMAN	trafficking protein particle complex 4						dendrite development (GO:0016358)|ER to Golgi vesicle-mediated transport (GO:0006888)|extracellular matrix organization (GO:0030198)	cis-Golgi network (GO:0005801)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi stack (GO:0005795)|synapse (GO:0045202)|synaptic vesicle (GO:0008021)|TRAPP complex (GO:0030008)				NS(1)|endometrium(1)|large_intestine(2)|lung(1)	5	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_neural(223;0.224)|all_hematologic(192;0.243)		BRCA - Breast invasive adenocarcinoma(274;7.58e-05)		GGCATCCGAGGTGGGCTAGGC	0.627																																						ENST00000533632.1																			0				NS(1)|endometrium(1)|large_intestine(2)|lung(1)	5						c.e1+1		trafficking protein particle complex 4							43	44	44					11																	118889681		2200	4295	6495	SO:0001630	splice_region_variant	51399				dendrite development|ER to Golgi vesicle-mediated transport	cis-Golgi network|dendrite|endoplasmic reticulum|Golgi stack|synaptic vesicle	protein binding	g.chr11:118889681G>A	AF078862	CCDS8407.1	11q23.3	2011-10-10				ENSG00000196655		"Trafficking protein particle complex"	19943	protein-coding gene	gene with protein product		610971				10810093	Standard	NM_016146		Approved	TRS23, SBDN, PTD009	uc010ryo.2	Q9Y296		ENST00000533632.1:c.175+1G>A	11.37:g.118889681G>A						TRAPPC4_ENST00000434101.2_Splice_Site|TRAPPC4_ENST00000533058.1_Splice_Site|TRAPPC4_ENST00000359005.4_Splice_Site|MIR3656_ENST00000577421.1_RNA|TRAPPC4_ENST00000525303.1_Splice_Site|TRAPPC4_ENST00000528230.1_Splice_Site		NM_016146.4	NP_057230.1	Q9Y296	TPPC4_HUMAN		BRCA - Breast invasive adenocarcinoma(274;7.58e-05)	1	539	+	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_neural(223;0.224)|all_hematologic(192;0.243)						A8K3A5|B4DME1	Splice_Site	SNP	ENST00000533632.1	37		CCDS8407.1	.	.	.	.	.	.	.	.	.	.	G	18.19	3.569635	0.65765	.	.	ENSG00000196655	ENST00000533632;ENST00000528230;ENST00000525303;ENST00000434101;ENST00000359005;ENST00000533058	.	.	.	5.62	5.62	0.85841	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.2616	0.93970	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	TRAPPC4	118394891	1.000000	0.71417	1.000000	0.80357	0.460000	0.32559	7.986000	0.88173	2.668000	0.90789	0.655000	0.94253	.		0.627	TRAPPC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389332.1	NM_016146	Intron	4	98	0	0	0	1	0	4	98					A	118889681	G	A	118889681	5	1	238	1	0	0	0	0	0	0	1	0	16458	1275	44	3	178	3	TRAPPC4	11	118889681	Splice_Site	SNP	G	TCGA-HC-8266-01A-11D-2260-08	2160606	118889681	16116835	33	11126											
GRIN2B	2904	broad.mit.edu	37	chr12	13828770	13828770	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaaggacaaattcctccccTcaaaagtgacattgatcaga	15	9	7	10	0	2	4	2	3	0	1	4	5	4	5	3	1	0	0	3	1	4	2			TCGA-HC-8266-01A-11D-2260-08	TCGA-HC-8266-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79d05b35-8616-4147-af78-8bf33fa45499	ef3312fd-0ef1-4d54-9cea-4bf59a6ebf85	g.chr12:13828770T>A	ENST00000609686.1	-	4	1243	c.1034A>T	c.(1033-1035)gAg>gTg	p.E345V		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	345					behavioral fear response (GO:0001662)|behavioral response to pain (GO:0048266)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|glutamate receptor signaling pathway (GO:0007215)|in utero embryonic development (GO:0001701)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning (GO:0007612)|learning or memory (GO:0007611)|memory (GO:0007613)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of synaptic plasticity (GO:0048167)|response to ethanol (GO:0045471)|sensory organ development (GO:0007423)|startle response (GO:0001964)|suckling behavior (GO:0001967)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Haloperidol(DB00502)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	ATTCCTCCCCTCAAAAGTGAC	0.398																																						ENST00000279593.3																			0				NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143						c.(1033-1035)gAg>gTg		glutamate receptor, ionotropic, N-methyl D-aspartate 2B	Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)						100	99	99					12																	13828770		2203	4300	6503	SO:0001583	missense	2904				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	g.chr12:13828770T>A		CCDS8662.1	12p13.1	2014-07-16			ENSG00000273079			"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4586	protein-coding gene	gene with protein product		138252		NMDAR2B		1350383	Standard	NM_000834		Approved	GluN2B	uc001rbt.2	Q13224	OTTHUMG00000137373	ENST00000609686.1:c.1034A>T	12.37:g.13828770T>A	ENSP00000477455:p.Glu345Val						p.E345V	NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN			4	1243	-			345					Q12919|Q13220|Q13225|Q14CU4|Q9UM56	Missense_Mutation	SNP	ENST00000609686.1	37	c.1034A>T	CCDS8662.1	.	.	.	.	.	.	.	.	.	.	T	25.8	4.678787	0.88542	.	.	ENSG00000150086	ENST00000279593	T	0.05258	3.47	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	T	0.20941	0.0504	M	0.82323	2.585	0.80722	D	1	P	0.49862	0.929	P	0.51516	0.672	T	0.00717	-1.1596	10	0.87932	D	0	.	16.2484	0.82467	0.0:0.0:0.0:1.0	.	345	Q13224	NMDE2_HUMAN	V	345	ENSP00000279593:E345V	ENSP00000279593:E345V	E	-	2	0	GRIN2B	13720037	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	7.650000	0.83521	2.291000	0.77112	0.533000	0.62120	GAG		0.398	GRIN2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268014.2			8	68	0	0	0	1	0	8	68					A	13828770	T	A	13828770	3	1	238	1	0	0	0	0	1	0	0	0	6780	1551	54	5	3460	5	GRIN2B	12	13828770	Missense_Mutation	SNP	T	TCGA-HC-8266-01A-11D-2260-08		13828770	120023125	34	11127											
RBL2	5934	broad.mit.edu	37	chr16	53504028	53504028	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcacaccagttcctggacagActttggtcaccatggcaacc	10	9	8	14	0	2	1	2	0	0	1	3	2	3	2	4	3	1	2	4	3	1	2			TCGA-HC-8266-01A-11D-2260-08	TCGA-HC-8266-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79d05b35-8616-4147-af78-8bf33fa45499	ef3312fd-0ef1-4d54-9cea-4bf59a6ebf85	g.chr16:53504028A>G	ENST00000262133.6	+	15	2313	c.2176A>G	c.(2176-2178)Act>Gct	p.T726A	RBL2_ENST00000379935.4_3'UTR|RBL2_ENST00000544545.1_Intron	NM_005611.3	NP_005602.3	Q08999	RBL2_HUMAN	retinoblastoma-like 2	726	Pocket; binds E1A.|Spacer.				chromatin modification (GO:0016568)|mitotic cell cycle (GO:0000278)|regulation of cell cycle (GO:0051726)|regulation of lipid kinase activity (GO:0043550)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						TCCTGGACAGACTTTGGTCAC	0.547																																						ENST00000262133.6																			0				breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						c.(2176-2178)Act>Gct		retinoblastoma-like 2 (p130)							90	77	82					16																	53504028		2198	4300	6498	SO:0001583	missense	5934				cell cycle|chromatin modification|regulation of cell cycle|regulation of lipid kinase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding	g.chr16:53504028A>G	X74594	CCDS10748.1	16q12.2	2014-03-11	2014-03-11		ENSG00000103479	ENSG00000103479			9894	protein-coding gene	gene with protein product		180203				8361765, 8643454	Standard	NM_005611		Approved	Rb2, p130	uc002ehi.4	Q08999	OTTHUMG00000133198	ENST00000262133.6:c.2176A>G	16.37:g.53504028A>G	ENSP00000262133:p.Thr726Ala					RBL2_ENST00000544545.1_Intron|RBL2_ENST00000379935.4_3'UTR	p.T726A	NM_005611.3	NP_005602.3	Q08999	RBL2_HUMAN			15	2313	+			726			Pocket; binds E1A.|Spacer.		B7Z913|Q15073|Q16084|Q8NE70|Q92812	Missense_Mutation	SNP	ENST00000262133.6	37	c.2176A>G	CCDS10748.1	.	.	.	.	.	.	.	.	.	.	A	16.24	3.068587	0.55539	.	.	ENSG00000103479	ENST00000262133;ENST00000379935	D	0.90504	-2.68	6.07	4.98	0.66077	.	0.094628	0.64402	D	0.000001	D	0.88429	0.6434	L	0.54323	1.7	0.80722	D	1	B;B;D	0.57257	0.223;0.434;0.979	B;B;B	0.43950	0.222;0.145;0.437	D	0.86812	0.1999	10	0.42905	T	0.14	-12.9443	12.1355	0.53968	0.9335:0.0:0.0665:0.0	.	726;436;726	Q8NE70;E9PG04;Q08999	.;.;RBL2_HUMAN	A	726;436	ENSP00000262133:T726A	ENSP00000262133:T726A	T	+	1	0	RBL2	52061529	1.000000	0.71417	0.995000	0.50966	0.985000	0.73830	6.936000	0.75892	1.124000	0.41980	0.528000	0.53228	ACT		0.547	RBL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256908.3	NM_005611		10	42	0	0	0	1	0	10	42					G	53504028	A	G	53504028	3	3	238	1	0	0	0	0	1	0	0	0	13110	275	10	4	2234	4	RBL2	16	53504028	Missense_Mutation	SNP	A	TCGA-HC-8266-01A-11D-2260-08		53504028	36850725	35	11128											
CNTNAP1	8506	broad.mit.edu	37	chr17	40847632	40847632	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagttctcccacatgctgaGccggccagtgccaggctatg	7	8	13	13	1	1	1	0	1	1	0	2	2	1	2	4	3	3	3	4	3	1	2			TCGA-HC-8266-01A-11D-2260-08	TCGA-HC-8266-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79d05b35-8616-4147-af78-8bf33fa45499	ef3312fd-0ef1-4d54-9cea-4bf59a6ebf85	g.chr17:40847632G>T	ENST00000264638.4	+	19	3303	c.3086G>T	c.(3085-3087)aGc>aTc	p.S1029I	CTD-3193K9.3_ENST00000592440.1_RNA	NM_003632.2	NP_003623.1	P78357	CNTP1_HUMAN	contactin associated protein 1	1029					axon cargo transport (GO:0008088)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cytoskeleton organization (GO:0007010)|neuromuscular process controlling balance (GO:0050885)|neuromuscular process controlling posture (GO:0050884)|neuron projection morphogenesis (GO:0048812)|neuronal action potential propagation (GO:0019227)|paranodal junction assembly (GO:0030913)|positive regulation of signal transduction (GO:0009967)|protein localization to paranode region of axon (GO:0002175)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|paranode region of axon (GO:0033270)|voltage-gated potassium channel complex (GO:0008076)	receptor activity (GO:0004872)|SH3 domain binding (GO:0017124)|SH3/SH2 adaptor activity (GO:0005070)	p.S1029I(1)		NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|lung(15)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.143)		CACATGCTGAGCCGGCCAGTG	0.617																																						ENST00000264638.4																			1	Substitution - Missense(1)	p.S1029I(1)	lung(1)	NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|lung(15)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						c.(3085-3087)aGc>aTc		contactin associated protein 1							46	48	47					17																	40847632		2202	4300	6502	SO:0001583	missense	8506				axon guidance|cell adhesion	paranode region of axon	receptor activity|receptor binding|SH3 domain binding|SH3/SH2 adaptor activity	g.chr17:40847632G>T	U87223	CCDS11436.1	17q21	2008-07-18				ENSG00000108797			8011	protein-coding gene	gene with protein product	"neurexin 4"	602346		NRXN4		9118959	Standard	NM_003632		Approved	p190, Caspr, CNTNAP	uc002iay.3	P78357		ENST00000264638.4:c.3086G>T	17.37:g.40847632G>T	ENSP00000264638:p.Ser1029Ile					CTD-3193K9.3_ENST00000592440.1_RNA	p.S1029I	NM_003632.2	NP_003623.1	P78357	CNTP1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.143)	19	3303	+		Breast(137;0.000143)	1029						Missense_Mutation	SNP	ENST00000264638.4	37	c.3086G>T	CCDS11436.1	.	.	.	.	.	.	.	.	.	.	G	15.11	2.737350	0.49045	.	.	ENSG00000108797	ENST00000264638	D	0.90504	-2.68	4.99	4.02	0.46733	Concanavalin A-like lectin/glucanase (1);	0.000000	0.85682	D	0.000000	T	0.80105	0.4562	N	0.14661	0.345	0.36034	D	0.839592	B	0.19073	0.033	B	0.14023	0.01	T	0.75897	-0.3155	10	0.22109	T	0.4	.	9.4603	0.38781	0.0961:0.0:0.9039:0.0	.	1029	P78357	CNTP1_HUMAN	I	1029	ENSP00000264638:S1029I	ENSP00000264638:S1029I	S	+	2	0	CNTNAP1	38101158	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	3.388000	0.52509	1.316000	0.45131	0.655000	0.94253	AGC		0.617	CNTNAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452342.1	NM_003632		9	69	1	0	0.0477658	1	0.0477658	9	69					T	40847632	G	T	40847632	3	4	238	1	0	0	0	0	1	0	0	0	3646	971	34	5	3160	5	CNTNAP1	17	40847632	Missense_Mutation	SNP	G	TCGA-HC-8266-01A-11D-2260-08		40847632	40347578	36	11129											
ZNF878	729747	broad.mit.edu	37	chr19	12155673	12155673	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctacgaacagaactgggaaaActgaatgctttcccacactg	14	8	8	11	1	0	2	0	1	0	1	1	4	1	3	1	1	5	1	1	1	6	2			TCGA-HC-8266-01A-11D-2260-08	TCGA-HC-8266-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79d05b35-8616-4147-af78-8bf33fa45499	ef3312fd-0ef1-4d54-9cea-4bf59a6ebf85	g.chr19:12155673A>C	ENST00000547628.1	-	4	680	c.543T>G	c.(541-543)agT>agG	p.S181R	CTD-2006C1.10_ENST00000547473.1_Intron|CTD-2006C1.2_ENST00000591898.1_RNA|CTD-2006C1.2_ENST00000591838.1_RNA|ZNF878_ENST00000602107.1_Missense_Mutation_p.S228R|CTD-2006C1.2_ENST00000476474.1_RNA	NM_001080404.2	NP_001073873.2	C9JN71	ZN878_HUMAN	zinc finger protein 878	181					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			cervix(1)|endometrium(1)|kidney(1)|lung(4)|urinary_tract(1)	8						AACTGGGAAAACTGAATGCTT	0.403																																						ENST00000602107.1																			0				cervix(1)|endometrium(1)|kidney(1)|lung(4)|urinary_tract(1)	8						c.(682-684)agT>agG		zinc finger protein 878							189	199	196					19																	12155673		2112	4260	6372	SO:0001583	missense	729747				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	g.chr19:12155673A>C		CCDS45984.1, CCDS45984.2	19p13.2	2013-01-08				ENSG00000257446		"Zinc fingers, C2H2-type", "-"	37246	protein-coding gene	gene with protein product							Standard	NM_001080404		Approved		uc021upl.1	C9JN71		ENST00000547628.1:c.543T>G	19.37:g.12155673A>C	ENSP00000447931:p.Ser181Arg					ZNF878_ENST00000547628.1_Missense_Mutation_p.S181R|CTD-2006C1.2_ENST00000591898.1_RNA|CTD-2006C1.2_ENST00000591838.1_RNA|CTD-2006C1.10_ENST00000547473.1_Intron|CTD-2006C1.2_ENST00000476474.1_RNA	p.S228R			C9JN71	ZN878_HUMAN			5	683	-			181						Missense_Mutation	SNP	ENST00000547628.1	37	c.684T>G	CCDS45984.2	.	.	.	.	.	.	.	.	.	.	a	0	-2.730166	0.00089	.	.	ENSG00000257446;ENSG00000232371	ENST00000547628;ENST00000440730	T	0.07216	3.21	1.24	-2.47	0.06442	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.03871	0.0109	N	0.12831	0.26	0.09310	N	1	B	0.11235	0.004	B	0.15484	0.013	T	0.39231	-0.9624	9	0.21540	T	0.41	.	5.2308	0.15420	0.5561:0.2971:0.0:0.1468	.	181	C9JN71	ZN878_HUMAN	R	181;228	ENSP00000447931:S181R	ENSP00000447931:S181R	S	-	3	2	AC022415.4;ZNF878	12016673	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.404000	0.07205	-2.785000	0.00359	-2.885000	0.00097	AGT		0.403	ZNF878-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403723.1	NM_001080404		4	223	0	0	0	1	0	4	223					C	12155673	A	C	12155673	3	2	238	1	0	0	0	0	1	0	0	0	18193	40	2	5	1056	5	ZNF878	19	12155673	Missense_Mutation	SNP	A	TCGA-HC-8266-01A-11D-2260-08		12155673	46973310	37	11130											
KRTAP19-6	337973	broad.mit.edu	37	chr21	31914086	31914086	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gcctccacagccacagccatAgcccagaccaccaaagcctc	12	3	6	20	0	0	1	0	0	0	1	2	1	1	1	8	0	4	0	8	0	2	1			TCGA-HC-8266-01A-11D-2260-08	TCGA-HC-8266-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79d05b35-8616-4147-af78-8bf33fa45499	ef3312fd-0ef1-4d54-9cea-4bf59a6ebf85	g.chr21:31914086A>T	ENST00000334046.5	-	1	97	c.67T>A	c.(67-69)Tat>Aat	p.Y23N		NM_181612.2	NP_853643.1	Q3LI70	KR196_HUMAN	keratin associated protein 19-6	23						intermediate filament (GO:0005882)				breast(1)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	9						CCACAGCCATAGCCCAGACCA	0.522																																						ENST00000334046.5																			0				breast(1)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	9						c.(67-69)Tat>Aat		keratin associated protein 19-6							114	119	117					21																	31914086		2203	4300	6503	SO:0001583	missense	337973					intermediate filament		g.chr21:31914086A>T	AP001708	CCDS13598.1	21q22.1	2010-09-30			ENSG00000186925	ENSG00000186925		"Keratin associated proteins"	18941	protein-coding gene	gene with protein product						12359730	Standard	NM_181612		Approved	KAP19.6	uc002yok.1	Q3LI70	OTTHUMG00000057779	ENST00000334046.5:c.67T>A	21.37:g.31914086A>T	ENSP00000375107:p.Tyr23Asn						p.Y23N	NM_181612.2	NP_853643.1	Q3LI70	KR196_HUMAN			1	97	-			23					Q3LI71	Missense_Mutation	SNP	ENST00000334046.5	37	c.67T>A	CCDS13598.1	.	.	.	.	.	.	.	.	.	.	a	9.444	1.088825	0.20390	.	.	ENSG00000186925	ENST00000334046;ENST00000437381	T	0.14144	2.53	4.44	4.44	0.53790	.	.	.	.	.	T	0.12305	0.0299	.	.	.	0.09310	N	1	P	0.44946	0.846	B	0.38378	0.272	T	0.13845	-1.0494	8	0.87932	D	0	.	10.4347	0.44428	1.0:0.0:0.0:0.0	.	23	Q3LI70	KR196_HUMAN	N	23	ENSP00000375107:Y23N	ENSP00000375107:Y23N	Y	-	1	0	KRTAP19-6	30835957	0.000000	0.05858	0.002000	0.10522	0.073000	0.16967	0.388000	0.20735	1.784000	0.52394	0.411000	0.27672	TAT		0.522	KRTAP19-6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128231.4			11	160	0	0	0	1	0	11	160					T	31914086	A	T	31914086	3	4	238	1	0	0	0	0	1	0	0	0	8533	420	15	5	113	5	KRTAP19-6	21	31914086	Missense_Mutation	SNP	A	TCGA-HC-8266-01A-11D-2260-08		31914086	16215809	38	11131											
FBLN1	2192	broad.mit.edu	37	chr22	45958914	45958914	+	Intron	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cgcggtggttttccgcatggGcccctccagtgctgtccccg	2	10	13	16	4	0	0	0	0	0	0	3	0	3	0	6	3	1	3	6	3	0	2			TCGA-HC-8266-01A-11D-2260-08	TCGA-HC-8266-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79d05b35-8616-4147-af78-8bf33fa45499	ef3312fd-0ef1-4d54-9cea-4bf59a6ebf85	g.chr22:45958914G>T	ENST00000327858.6	+	15	1792				FBLN1_ENST00000402984.3_Missense_Mutation_p.G645V|FBLN1_ENST00000348697.2_Intron|FBLN1_ENST00000262722.7_Missense_Mutation_p.G607V|FBLN1_ENST00000442170.2_Intron	NM_006486.2	NP_006477	P23142	FBLN1_HUMAN	fibulin 1						embryo implantation (GO:0007566)|extracellular matrix organization (GO:0030198)|viral process (GO:0016032)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)|peptidase activator activity (GO:0016504)			biliary_tract(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)	30		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		TTCCGCATGGGCCCCTCCAGT	0.617																																						ENST00000402984.3																			0				biliary_tract(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)	30						c.(1933-1935)gGc>gTc		fibulin 1							59	72	67					22																	45958914		2203	4300	6503	SO:0001627	intron_variant	2192				interspecies interaction between organisms	extracellular space|soluble fraction	calcium ion binding|extracellular matrix structural constituent|protein binding	g.chr22:45958914G>T		CCDS14067.1, CCDS14068.1, CCDS14069.1, CCDS43028.1	22q13.31	2010-06-15			ENSG00000077942	ENSG00000077942		"Fibulins"	3600	protein-coding gene	gene with protein product		135820				2269669, 1400330	Standard	NM_006485		Approved	FBLN	uc003bgj.1	P23142	OTTHUMG00000151340	ENST00000327858.6:c.1698-11477G>T	22.37:g.45958914G>T						FBLN1_ENST00000348697.2_Intron|FBLN1_ENST00000327858.6_Intron|FBLN1_ENST00000262722.7_Missense_Mutation_p.G607V|FBLN1_ENST00000442170.2_Intron	p.G645V			P23142	FBLN1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)	16	2037	+		Ovarian(80;0.00965)|all_neural(38;0.0416)	620					B0QY42|B1AHL4|P23143|P23144|P37888|Q5TIC4|Q8TBH8|Q9HBQ5|Q9UC21|Q9UGR4|Q9UH41	Missense_Mutation	SNP	ENST00000327858.6	37	c.1934G>T	CCDS14067.1	.	.	.	.	.	.	.	.	.	.	G	19.59	3.856454	0.71834	.	.	ENSG00000077942	ENST00000402984;ENST00000262722	D;D	0.86030	-2.06;-1.93	4.86	3.8	0.43715	.	.	.	.	.	D	0.84488	0.5483	L	0.46157	1.445	0.80722	D	1	P;P	0.48294	0.908;0.902	P;P	0.49999	0.521;0.628	T	0.81339	-0.0977	9	0.24483	T	0.36	.	14.7288	0.69365	0.0:0.146:0.8539:0.0	.	645;607	B1AHL2;P23142-4	.;.	V	645;607	ENSP00000385521:G645V;ENSP00000262722:G607V	ENSP00000262722:G607V	G	+	2	0	FBLN1	44337578	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	9.186000	0.94906	0.978000	0.38470	0.313000	0.20887	GGC		0.617	FBLN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000322287.1	NM_006486		10	98	1	0	7.48243e-07	1	8.55135e-07	10	98					T	45958914	G	T	45958914	1	4	238	0	1	0	0	0	0	0	0	0	5698	1203	42	5		5	FBLN1	22	45958914	Intron	SNP	G	TCGA-HC-8266-01A-11D-2260-08		45958914	5345652	39	11132											
HMGB3	3149	broad.mit.edu	37	chrX	150156360	150156360	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaagaggaggaggaagaagaGgaggaggaggaggaggagga	17	0	24	0	0	0	3	0	0	0	3	0	14	0	13	0	10	0	0	0	10	3	0			TCGA-HC-8266-01A-11D-2260-08	TCGA-HC-8266-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79d05b35-8616-4147-af78-8bf33fa45499	ef3312fd-0ef1-4d54-9cea-4bf59a6ebf85	g.chrX:150156360G>A	ENST00000325307.7	+	5	672	c.576G>A	c.(574-576)gaG>gaA	p.E192E	HMGB3_ENST00000448905.2_Silent_p.E192E	NM_005342.2	NP_005333.2	O15347	HMGB3_HUMAN	high mobility group box 3	192	Asp/Glu-rich (acidic).				DNA recombination (GO:0006310)|multicellular organismal development (GO:0007275)	chromosome (GO:0005694)|nucleus (GO:0005634)	DNA binding, bending (GO:0008301)|double-stranded DNA binding (GO:0003690)|poly(A) RNA binding (GO:0044822)	p.E192E(1)		endometrium(3)|large_intestine(2)|lung(2)|skin(1)	8	Acute lymphoblastic leukemia(192;6.56e-05)					aggaagaagaggaggaggagg	0.443																																						ENST00000325307.7																			1	Substitution - coding silent(1)	p.E192E(1)	large_intestine(1)	endometrium(3)|large_intestine(2)|lung(2)|skin(1)	8						c.(574-576)gaG>gaA		high mobility group box 3							50	48	49					X																	150156360		2202	4299	6501	SO:0001819	synonymous_variant	3149				DNA recombination|multicellular organismal development	chromosome|nucleus	DNA bending activity|double-stranded DNA binding	g.chrX:150156360G>A	AF274572	CCDS35428.1	Xq28	2011-07-01	2011-04-05	2002-08-16	ENSG00000029993	ENSG00000029993		"High-mobility group / Canonical"	5004	protein-coding gene	gene with protein product	"non-histone chromosomal protein"	300193	"high-mobility group (nonhistone chromosomal) protein 4", "high-mobility group box 3"	HMG4		9598312	Standard	XM_005274665		Approved	HMG2A, MGC90319	uc004fep.3	O15347	OTTHUMG00000024162	ENST00000325307.7:c.576G>A	X.37:g.150156360G>A						HMGB3_ENST00000448905.2_Silent_p.E192E	p.E192E	NM_005342.2	NP_005333.2	O15347	HMGB3_HUMAN			5	672	+	Acute lymphoblastic leukemia(192;6.56e-05)		192			Asp/Glu-rich (acidic).		O95556|Q6NS40	Silent	SNP	ENST00000325307.7	37	c.576G>A	CCDS35428.1																																																																																				0.443	HMGB3-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060867.1	NM_005342		3	28	0	0	0	1	0	3	28					A	150156360	G	A	150156360	2	1	238	1	0	0	0	0	0	0	0	1	7227	991	35	3		3	HMGB3	23	150156360	Silent	SNP	G	TCGA-HC-8266-01A-11D-2260-08		150156360	5114200	40	11133											
DDX3Y	8653	broad.mit.edu	37	chrY	15023762	15023762	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttattgaaggattccatgatAaagacagttcaggttggagt	13	13	11	4	0	1	3	1	2	0	1	2	5	2	5	1	3	0	2	1	3	4	6			TCGA-HC-8266-01A-11D-2260-08	TCGA-HC-8266-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79d05b35-8616-4147-af78-8bf33fa45499	ef3312fd-0ef1-4d54-9cea-4bf59a6ebf85	g.chrY:15023762A>G	ENST00000336079.3	+	4	269	c.163A>G	c.(163-165)Aaa>Gaa	p.K55E	DDX3Y_ENST00000360160.4_Missense_Mutation_p.K55E	NM_001122665.1|NM_004660.3	NP_001116137.1|NP_004651.2	O15523	DDX3Y_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 3, Y-linked	55						cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|DNA binding (GO:0003677)|RNA binding (GO:0003723)			kidney(1)|liver(2)|lung(1)|upper_aerodigestive_tract(1)	5						ATTCCATGATAAAGACAGTTC	0.373																																						ENST00000336079.3																			0				kidney(1)|liver(2)|lung(1)|upper_aerodigestive_tract(1)	5						c.(163-165)Aaa>Gaa		DEAD (Asp-Glu-Ala-Asp) box helicase 3, Y-linked							95	93	94					Y																	15023762		602	1951	2553	SO:0001583	missense	8653					cytoplasm|nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|RNA binding	g.chrY:15023762A>G	AF000984	CCDS14782.1	Yq11	2013-07-16	2013-07-16	2003-06-20	ENSG00000067048	ENSG00000067048		"DEAD-boxes"	2699	protein-coding gene	gene with protein product		400010	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide, Y chromosome", "DEAD (Asp-Glu-Ala-Asp) box polypeptide 3, Y-linked"	DBY		9381176	Standard	NM_004660		Approved		uc004fsv.2	O15523	OTTHUMG00000036324	ENST00000336079.3:c.163A>G	Y.37:g.15023762A>G	ENSP00000336725:p.Lys55Glu					DDX3Y_ENST00000360160.4_Missense_Mutation_p.K55E	p.K55E	NM_001122665.1|NM_004660.3	NP_001116137.1|NP_004651.2	O15523	DDX3Y_HUMAN			4	269	+			55					B4DK29|B4DXX7|Q8IYV7	Missense_Mutation	SNP	ENST00000336079.3	37	c.163A>G	CCDS14782.1																																																																																				0.373	DDX3Y-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088407.1	NM_004660		4	27	0	0	0	1	0	4	27					G	15023762	A	G	15023762	3	3	238	1	0	0	0	0	1	0	0	0	4359	363	13	4	177	4	DDX3Y	24	15023762	Missense_Mutation	SNP	A	TCGA-HC-8266-01A-11D-2260-08		15023762	44349804	41	11134											
MTOR	2475	broad.mit.edu	37	chr1	11210249	11210249	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtctcatcattaaccagggTccacttttcacagcactgct	9	12	7	13	0	3	0	3	0	1	0	5	0	4	0	2	2	3	2	2	2	1	3			TCGA-HC-A48F-01A-11D-A257-08	TCGA-HC-A48F-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7030b035-d4d9-42fc-ba42-79f3f9d30308	609e8c56-485a-4a1d-aa5d-ab4781c39cc7	g.chr1:11210249T>C	ENST00000361445.4	-	31	4580	c.4504A>G	c.(4504-4506)Acc>Gcc	p.T1502A	MTOR-AS1_ENST00000420480.1_RNA|RNU6-537P_ENST00000517277.1_RNA|MTOR-AS1_ENST00000445982.1_RNA	NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN	mechanistic target of rapamycin (serine/threonine kinase)	1502	FAT. {ECO:0000255|PROSITE- ProRule:PRU00534}.				cell growth (GO:0016049)|cellular response to hypoxia (GO:0071456)|cellular response to nutrient levels (GO:0031669)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|germ cell development (GO:0007281)|growth (GO:0040007)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|negative regulation of autophagy (GO:0010507)|negative regulation of cell size (GO:0045792)|negative regulation of macroautophagy (GO:0016242)|negative regulation of NFAT protein import into nucleus (GO:0051534)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|phosphatidylinositol-mediated signaling (GO:0048015)|phosphorylation (GO:0016310)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of gene expression (GO:0010628)|positive regulation of lamellipodium assembly (GO:0010592)|positive regulation of lipid biosynthetic process (GO:0046889)|positive regulation of myotube differentiation (GO:0010831)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein catabolic process (GO:0030163)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of carbohydrate utilization (GO:0043610)|regulation of fatty acid beta-oxidation (GO:0031998)|regulation of glycogen biosynthetic process (GO:0005979)|regulation of protein kinase activity (GO:0045859)|regulation of Rac GTPase activity (GO:0032314)|regulation of response to food (GO:0032095)|response to amino acid (GO:0043200)|response to nutrient (GO:0007584)|response to stress (GO:0006950)|ruffle organization (GO:0031529)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endomembrane system (GO:0012505)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|phosphatidylinositol 3-kinase complex (GO:0005942)|PML body (GO:0016605)|TORC1 complex (GO:0031931)|TORC2 complex (GO:0031932)	ATP binding (GO:0005524)|drug binding (GO:0008144)|kinase activity (GO:0016301)|phosphoprotein binding (GO:0051219)|protein serine/threonine kinase activity (GO:0004674)|ribosome binding (GO:0043022)|RNA polymerase III type 1 promoter DNA binding (GO:0001030)|RNA polymerase III type 2 promoter DNA binding (GO:0001031)|RNA polymerase III type 3 promoter DNA binding (GO:0001032)|TFIIIC-class transcription factor binding (GO:0001156)			breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149					Everolimus(DB01590)|Pimecrolimus(DB00337)|Sirolimus(DB00877)|Temsirolimus(DB06287)	TTAACCAGGGTCCACTTTTCA	0.478																																						ENST00000361445.4																			0				breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149						c.(4504-4506)Acc>Gcc		mechanistic target of rapamycin (serine/threonine kinase)							77	68	71					1																	11210249		2203	4300	6503	SO:0001583	missense	2475				cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient|T cell costimulation|TOR signaling cascade	endoplasmic reticulum membrane|Golgi membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex|PML body|TORC1 complex|TORC2 complex	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity	g.chr1:11210249T>C	L34075	CCDS127.1	1p36	2014-09-17	2009-05-29	2009-05-29	ENSG00000198793	ENSG00000198793			3942	protein-coding gene	gene with protein product	"FK506 binding protein 12-rapamycin associated protein 2", "rapamycin target protein", "FKBP12-rapamycin complex-associated protein 1", "FKBP-rapamycin associated protein", "rapamycin associated protein FRAP2", "dJ576K7.1 (FK506 binding protein 12-rapamycin associated protein 1)", "rapamycin and FKBP12 target 1", "mammalian target of rapamycin"	601231	"FK506 binding protein 12-rapamycin associated protein 1"	FRAP, FRAP2, FRAP1		8008069, 8660990	Standard	NM_004958		Approved	RAFT1, RAPT1, FLJ44809	uc001asd.3	P42345	OTTHUMG00000002001	ENST00000361445.4:c.4504A>G	1.37:g.11210249T>C	ENSP00000354558:p.Thr1502Ala						p.T1502A	NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN			31	4580	-			1502			FAT.		Q4LE76|Q5TER1|Q6LE87|Q96QG3|Q9Y4I3	Missense_Mutation	SNP	ENST00000361445.4	37	c.4504A>G	CCDS127.1	.	.	.	.	.	.	.	.	.	.	T	8.866	0.948183	0.18356	.	.	ENSG00000198793	ENST00000361445;ENST00000539766	T	0.63744	-0.06	5.01	5.01	0.66863	PIK-related kinase (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.057002	0.64402	D	0.000001	T	0.37404	0.1002	N	0.04297	-0.235	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.30966	-0.9960	10	0.08179	T	0.78	-11.9871	15.0318	0.71713	0.0:0.0:0.0:1.0	.	1502	P42345	MTOR_HUMAN	A	1502	ENSP00000354558:T1502A	ENSP00000354558:T1502A	T	-	1	0	MTOR	11132836	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.853000	0.69496	2.008000	0.58898	0.533000	0.62120	ACC		0.478	MTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005558.1	NM_004958		5	21	0	0	0	1	0	5	21					C	11210249	T	C	11210249	3	2	239	1	0	0	0	0	1	0	0	0	9954	1667	58	4	3257	4	MTOR	1	11210249	Missense_Mutation	SNP	T	TCGA-HC-A48F-01A-11D-A257-08		11210249	238040372	1	11135											
MAD2L2	10459	broad.mit.edu	37	chr1	11736124	11736124	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggggggttgtggtccaggaCggcatcgcacacgctgatct	6	9	16	10	3	1	1	0	1	1	0	3	2	2	2	1	6	0	4	1	6	0	1			TCGA-HC-A48F-01A-11D-A257-08	TCGA-HC-A48F-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7030b035-d4d9-42fc-ba42-79f3f9d30308	609e8c56-485a-4a1d-aa5d-ab4781c39cc7	g.chr1:11736124C>T	ENST00000235310.3	-	8	1334	c.406G>A	c.(406-408)Gtc>Atc	p.V136I	MAD2L2_ENST00000376692.4_Missense_Mutation_p.V136I|MAD2L2_ENST00000376669.5_Missense_Mutation_p.V149I|MAD2L2_ENST00000376672.1_Missense_Mutation_p.V149I|MAD2L2_ENST00000376667.3_Missense_Mutation_p.V136I			Q9UI95	MD2L2_HUMAN	MAD2 mitotic arrest deficient-like 2 (yeast)	136	HORMA. {ECO:0000255|PROSITE- ProRule:PRU00109}.|Mediates interaction with REV1 and REV3L and homodimerization.				actin filament organization (GO:0007015)|DNA damage response, signal transduction resulting in transcription (GO:0042772)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell-cell adhesion mediated by cadherin (GO:2000048)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of mitotic anaphase-promoting complex activity (GO:0060564)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription by competitive promoter binding (GO:0010944)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell growth (GO:0001558)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)|zeta DNA polymerase complex (GO:0016035)	JUN kinase binding (GO:0008432)|RNA polymerase II activating transcription factor binding (GO:0001102)			kidney(1)|large_intestine(1)|lung(2)|ovary(1)	5	Ovarian(185;0.249)	Lung NSC(185;4.15e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.04e-06)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|Kidney(185;0.000733)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		TGGTCCAGGACGGCATCGCAC	0.582								DNA polymerases (catalytic subunits)																														ENST00000235310.3																			0				kidney(1)|large_intestine(1)|lung(2)|ovary(1)	5						c.(406-408)Gtc>Atc	DNA polymerases (catalytic subunits)	MAD2 mitotic arrest deficient-like 2 (yeast)							78	74	75					1																	11736124		2203	4300	6503	SO:0001583	missense	10459				cell division|DNA damage response, signal transduction resulting in transcription|double-strand break repair|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of mitotic anaphase-promoting complex activity|positive regulation of peptidyl-serine phosphorylation|positive regulation of transcription, DNA-dependent|regulation of cell growth|transcription, DNA-dependent	cytoplasm|nucleoplasm|spindle|zeta DNA polymerase complex	JUN kinase binding	g.chr1:11736124C>T	AF139365	CCDS134.1	1p36	2013-01-17	2001-11-28		ENSG00000116670	ENSG00000116670		"DNA polymerases"	6764	protein-coding gene	gene with protein product	"mitotic arrest deficient homolog-like 2", "polymerase (DNA-directed), zeta 2, accessory subunit"	604094	"MAD2 (mitotic arrest deficient, yeast, homolog)-like 2"			10366450	Standard	NM_006341		Approved	MAD2B, REV7, POLZ2	uc009vnc.3	Q9UI95	OTTHUMG00000002231	ENST00000235310.3:c.406G>A	1.37:g.11736124C>T	ENSP00000235310:p.Val136Ile					MAD2L2_ENST00000376692.4_Missense_Mutation_p.V136I|MAD2L2_ENST00000376667.3_Missense_Mutation_p.V136I|MAD2L2_ENST00000376669.5_Missense_Mutation_p.V149I|MAD2L2_ENST00000376672.1_Missense_Mutation_p.V149I	p.V136I			Q9UI95	MD2L2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.04e-06)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|Kidney(185;0.000733)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)	8	1334	-	Ovarian(185;0.249)	Lung NSC(185;4.15e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	136			HORMA.|Mediates interaction with REV1 and REV3L and homodimerization.		B3KNE3|Q5TGW7|Q9UNA7|Q9Y6I6	Missense_Mutation	SNP	ENST00000235310.3	37	c.406G>A	CCDS134.1	.	.	.	.	.	.	.	.	.	.	C	14.58	2.578396	0.45902	.	.	ENSG00000116670	ENST00000376692;ENST00000235310;ENST00000376672;ENST00000376669;ENST00000376667;ENST00000376664;ENST00000445656;ENST00000456915	.	.	.	5.03	4.12	0.48240	DNA-binding HORMA (4);	0.178848	0.48767	D	0.000162	T	0.38374	0.1038	L	0.43152	1.355	0.58432	D	0.999999	P	0.42203	0.773	B	0.30401	0.115	T	0.21621	-1.0240	9	0.33141	T	0.24	-28.0216	12.1288	0.53932	0.0:0.9161:0.0:0.0839	.	136	Q9UI95	MD2L2_HUMAN	I	136;136;149;149;136;112;166;136	.	ENSP00000235310:V136I	V	-	1	0	MAD2L2	11658711	1.000000	0.71417	1.000000	0.80357	0.594000	0.36715	4.471000	0.60182	1.131000	0.42111	-0.251000	0.11542	GTC		0.582	MAD2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006344.2	NM_006341		6	26	0	0	0	1	0	6	26					T	11736124	C	T	11736124	3	4	239	1	0	0	0	0	1	0	0	0	9150	536	19	1	245	1	MAD2L2	1	11736124	Missense_Mutation	SNP	C	TCGA-HC-A48F-01A-11D-A257-08	525875	11736124	237514497	2	11136											
CTH	1491	broad.mit.edu	37	chr1	70877212	70877213	+	Frame_Shift_Ins	INS	-	-	C																															ggacctccagggctgtagtgINSccccccatctcactgtccac																										TCGA-HC-A48F-01A-11D-A257-08	TCGA-HC-A48F-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7030b035-d4d9-42fc-ba42-79f3f9d30308	609e8c56-485a-4a1d-aa5d-ab4781c39cc7	g.chr1:70877212_70877213insC	ENST00000370938.3	+	1	258_259	c.114_115insC	c.(115-117)cccfs	p.P39fs	CTH_ENST00000346806.2_Frame_Shift_Ins_p.P39fs|CTH_ENST00000464926.1_3'UTR|CTH_ENST00000411986.2_Frame_Shift_Ins_p.P39fs	NM_001902.5	NP_001893.2	Q96IQ7	VSIG2_HUMAN	cystathionine gamma-lyase	0	Ig-like V-type.					integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	18						GGGCTGTAGTGCCCCCCATCTC	0.609																																						ENST00000411986.2																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	18						c.(112-117)gtccccfs		cystathionase (cystathionine gamma-lyase)	L-Cysteine(DB00151)|Pyridoxal Phosphate(DB00114)																																			SO:0001589	frameshift_variant	1491				cysteine biosynthetic process|hydrogen sulfide biosynthetic process|protein homotetramerization|protein-pyridoxal-5-phosphate linkage via peptidyl-N6-pyridoxal phosphate-L-lysine	cytoplasm|nucleus	cystathionine gamma-lyase activity|L-cysteine desulfhydrase activity|pyridoxal phosphate binding	g.chr1:70877212_70877213insC	BC015807	CCDS650.1, CCDS651.1, CCDS53333.1	1p31.1	2014-06-24	2014-06-24		ENSG00000116761	ENSG00000116761	4.4.1.1		2501	protein-coding gene	gene with protein product		607657	"cystathionase (cystathionine gamma-lyase)"			1339280	Standard	NM_001902		Approved		uc001dfd.3	P32929	OTTHUMG00000009352	ENST00000370938.3:c.120dupC	1.37:g.70877218_70877218dupC	ENSP00000359976:p.Pro39fs					CTH_ENST00000370938.3_Frame_Shift_Ins_p.VP38fs|CTH_ENST00000346806.2_Frame_Shift_Ins_p.VP38fs|CTH_ENST00000464926.1_3'UTR	p.VP38fs	NM_001190463.1	NP_001177392.1	P32929	CGL_HUMAN			1	312_313	+			38					O95791|Q9NX42	Frame_Shift_Ins	INS	ENST00000370938.3	37	c.114_115insC	CCDS650.1																																																																																				0.609	CTH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025918.1	NM_001902		22	33						22	33	---	---	---	---	C	70877213	-	C	70877212	7	5	239	1	0	1	1	0	0	0	0	0	4009	1306	46	0	116	0	CTH	1	70877212	Frame_Shift_Ins	INS	-	TCGA-HC-A48F-01A-11D-A257-08	59141088	70877212	178373409	3	11137											
LPHN2	23266	broad.mit.edu	37	chr1	82417719	82417719	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggccagtgtttgctggggatGtaagttcttcagtgagattg	7	14	15	5	0	2	1	1	1	1	1	2	3	2	2	1	3	1	4	1	3	1	5			TCGA-HC-A48F-01A-11D-A257-08	TCGA-HC-A48F-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7030b035-d4d9-42fc-ba42-79f3f9d30308	609e8c56-485a-4a1d-aa5d-ab4781c39cc7	g.chr1:82417719G>A	ENST00000370728.1	+	11	2320	c.1675G>A	c.(1675-1677)Gta>Ata	p.V559I	LPHN2_ENST00000370717.2_Missense_Mutation_p.V559I|LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000370723.1_Missense_Mutation_p.V559I|LPHN2_ENST00000370713.1_Missense_Mutation_p.V559I|LPHN2_ENST00000370730.1_Missense_Mutation_p.V559I|LPHN2_ENST00000370721.1_Missense_Mutation_p.V497I|LPHN2_ENST00000271029.4_Missense_Mutation_p.V559I|LPHN2_ENST00000370727.1_Missense_Mutation_p.V559I|LPHN2_ENST00000335786.5_Missense_Mutation_p.V559I|LPHN2_ENST00000359929.3_Missense_Mutation_p.V559I|LPHN2_ENST00000370715.1_Missense_Mutation_p.V559I|LPHN2_ENST00000394879.1_Missense_Mutation_p.V559I|LPHN2_ENST00000319517.6_Missense_Mutation_p.V559I|LPHN2_ENST00000370725.1_Missense_Mutation_p.V559I			O95490	LPHN2_HUMAN	latrophilin 2	559					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|G-protein coupled receptor activity (GO:0004930)|latrotoxin receptor activity (GO:0016524)			NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		TGCTGGGGATGTAAGTTCTTC	0.433																																						ENST00000370728.1																			0				NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119						c.(1675-1677)Gta>Ata		latrophilin 2							138	116	123					1																	82417719		2203	4300	6503	SO:0001583	missense	23266				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding	g.chr1:82417719G>A	AJ131581	CCDS689.1, CCDS72811.1	1p31.1	2014-08-08	2003-03-17	2003-05-02	ENSG00000117114	ENSG00000117114		"-", "GPCR / Class B : Orphans"	18582	protein-coding gene	gene with protein product		607018	"latrophilin 1"	LPHH1		10760572	Standard	XR_248786		Approved	KIAA0786, LEC1	uc001diu.3	O95490	OTTHUMG00000009844	ENST00000370728.1:c.1675G>A	1.37:g.82417719G>A	ENSP00000359763:p.Val559Ile					LPHN2_ENST00000271029.4_Missense_Mutation_p.V559I|LPHN2_ENST00000370713.1_Missense_Mutation_p.V559I|LPHN2_ENST00000370715.1_Missense_Mutation_p.V559I|LPHN2_ENST00000319517.6_Missense_Mutation_p.V559I|LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000370717.2_Missense_Mutation_p.V559I|LPHN2_ENST00000370730.1_Missense_Mutation_p.V559I|LPHN2_ENST00000370721.1_Missense_Mutation_p.V497I|LPHN2_ENST00000370723.1_Missense_Mutation_p.V559I|LPHN2_ENST00000370725.1_Missense_Mutation_p.V559I|LPHN2_ENST00000335786.5_Missense_Mutation_p.V559I|LPHN2_ENST00000370727.1_Missense_Mutation_p.V559I|LPHN2_ENST00000359929.3_Missense_Mutation_p.V559I|LPHN2_ENST00000394879.1_Missense_Mutation_p.V559I	p.V559I			O95490	LPHN2_HUMAN		all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)	11	2320	+			559					A5XEI2|B1ALT8|B1ALT9|B1ALU0|B1ALU2|B1ALU4|B1ALU5|B1ALU6|O94882|Q5VX76|Q9UKY5|Q9UKY6	Missense_Mutation	SNP	ENST00000370728.1	37	c.1675G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	10.85|10.85	1.465846|1.465846	0.26335|0.26335	.|.	.|.	ENSG00000117114|ENSG00000117114	ENST00000449420|ENST00000370721;ENST00000370728;ENST00000370730;ENST00000370727;ENST00000370725;ENST00000370723;ENST00000359929;ENST00000370715;ENST00000370713;ENST00000319517;ENST00000370717;ENST00000394879;ENST00000271029;ENST00000335786	.|T;T;T;T;T;T;T;T;T;T;T;T;T;T	.|0.10382	.|2.88;2.88;2.88;2.88;2.88;2.88;2.88;2.88;2.88;2.88;2.88;2.88;2.88;2.88	6.07|6.07	6.07|6.07	0.98685|0.98685	.|.	.|0.062152	.|0.64402	.|D	.|0.000005	T|T	0.05777|0.05777	0.0151|0.0151	L|L	0.38838|0.38838	1.175|1.175	0.51767|0.51767	D|D	0.999937|0.999937	.|B;B;B	.|0.22746	.|0.074;0.027;0.074	.|B;B;B	.|0.25291	.|0.059;0.02;0.059	T|T	0.36114|0.36114	-0.9761|-0.9761	5|10	.|0.17832	.|T	.|0.49	.|.	20.6593|20.6593	0.99626|0.99626	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|559;559;559	.|O95490-3;O95490-4;O95490-2	.|.;.;.	I|I	426|497;559;559;559;559;559;559;559;559;559;559;559;559;559	.|ENSP00000359756:V497I;ENSP00000359763:V559I;ENSP00000359765:V559I;ENSP00000359762:V559I;ENSP00000359760:V559I;ENSP00000359758:V559I;ENSP00000353006:V559I;ENSP00000359750:V559I;ENSP00000359748:V559I;ENSP00000322270:V559I;ENSP00000359752:V559I;ENSP00000378344:V559I;ENSP00000271029:V559I;ENSP00000337306:V559I	.|ENSP00000271029:V559I	M|V	+|+	3|1	0|0	LPHN2|LPHN2	82190307|82190307	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.986000|0.986000	0.74619|0.74619	6.496000|6.496000	0.73670|0.73670	2.885000|2.885000	0.99019|0.99019	0.655000|0.655000	0.94253|0.94253	ATG|GTA		0.433	LPHN2-007	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000027188.1	NM_012302		30	41	0	0	0	1	0	30	41					A	82417719	G	A	82417719	3	1	239	1	0	0	0	0	1	0	0	0	8916	1377	48	3	1701	3	LPHN2	1	82417719	Missense_Mutation	SNP	G	TCGA-HC-A48F-01A-11D-A257-08	11540507	82417719	166832902	4	11138											
MRPS25	64432	broad.mit.edu	37	chr3	15106611	15106611	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgcgtgttgtaattcactgTcatgaccttcacggagtcct	8	14	9	10	2	3	1	3	1	0	0	4	2	4	2	2	1	1	2	2	1	1	4			TCGA-HC-A48F-01A-11D-A257-08	TCGA-HC-A48F-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7030b035-d4d9-42fc-ba42-79f3f9d30308	609e8c56-485a-4a1d-aa5d-ab4781c39cc7	g.chr3:15106611T>C	ENST00000253686.2	-	1	231	c.91A>G	c.(91-93)Aca>Gca	p.T31A	MRPS25_ENST00000444840.2_Missense_Mutation_p.T31A|MRPS25_ENST00000449354.2_Missense_Mutation_p.T31A	NM_022497.3	NP_071942.1	P82663	RT25_HUMAN	mitochondrial ribosomal protein S25	31						mitochondrion (GO:0005739)|ribosome (GO:0005840)				large_intestine(1)|lung(1)	2						TAATTCACTGTCATGACCTTC	0.647																																						ENST00000253686.2																			0				large_intestine(1)|lung(1)	2						c.(91-93)Aca>Gca		mitochondrial ribosomal protein S25							71	51	58					3																	15106611		2202	4299	6501	SO:0001583	missense	64432				translation	mitochondrial small ribosomal subunit	protein binding|structural constituent of ribosome	g.chr3:15106611T>C	AB061208	CCDS2622.1	3p25	2012-09-13			ENSG00000131368	ENSG00000131368		"Mitochondrial ribosomal proteins / small subunits"	14511	protein-coding gene	gene with protein product	"mitochondrial 28S ribosomal protein S25"	611987				11279123	Standard	NM_022497		Approved	MRP-S25, FLJ00023, DKFZp313H0817, RPMS25	uc003bzl.3	P82663	OTTHUMG00000129836	ENST00000253686.2:c.91A>G	3.37:g.15106611T>C	ENSP00000253686:p.Thr31Ala					MRPS25_ENST00000449354.2_Missense_Mutation_p.T31A|MRPS25_ENST00000444840.2_Missense_Mutation_p.T31A	p.T31A	NM_022497.3	NP_071942.1	P82663	RT25_HUMAN			1	231	-			31					B4DFJ5|B4DQG6|Q9H7P5	Missense_Mutation	SNP	ENST00000253686.2	37	c.91A>G	CCDS2622.1	.	.	.	.	.	.	.	.	.	.	T	14.94	2.686298	0.47991	.	.	ENSG00000131368	ENST00000253686;ENST00000449354;ENST00000444840	.	.	.	4.85	4.85	0.62838	Thioredoxin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.48537	0.1505	L	0.49699	1.58	0.80722	D	1	P;P;P	0.52577	0.91;0.954;0.78	B;B;B	0.43950	0.294;0.437;0.192	T	0.43556	-0.9384	9	0.21014	T	0.42	-37.3807	14.1306	0.65250	0.0:0.0:0.0:1.0	.	31;31;31	B4DFJ5;B4DQG6;P82663	.;.;RT25_HUMAN	A	31	.	ENSP00000253686:T31A	T	-	1	0	MRPS25	15081615	1.000000	0.71417	1.000000	0.80357	0.771000	0.43674	7.543000	0.82106	1.811000	0.52892	0.260000	0.18958	ACA		0.647	MRPS25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252076.2	NM_022497		6	10	0	0	0	1	0	6	10					C	15106611	T	C	15106611	3	2	239	1	0	0	0	0	1	0	0	0	9836	1667	58	4	446	4	MRPS25	3	15106611	Missense_Mutation	SNP	T	TCGA-HC-A48F-01A-11D-A257-08		15106611	182915819	5	11139											
ZBBX	79740	broad.mit.edu	37	chr3	166960306	166960306	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aacttacctcaattcctcaaCtccacagggacccctcacat	12	9	3	17	0	3	0	3	0	0	0	5	1	5	1	5	1	3	0	5	1	4	2			TCGA-HC-A48F-01A-11D-A257-08	TCGA-HC-A48F-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7030b035-d4d9-42fc-ba42-79f3f9d30308	609e8c56-485a-4a1d-aa5d-ab4781c39cc7	g.chr3:166960306C>A	ENST00000392766.2	-	20	2603	c.2263G>T	c.(2263-2265)Gtt>Ttt	p.V755F	ZBBX_ENST00000455345.2_Missense_Mutation_p.V794F|ZBBX_ENST00000307529.5_Missense_Mutation_p.V794F|ZBBX_ENST00000392767.2_Missense_Mutation_p.V755F|ZBBX_ENST00000392764.1_Missense_Mutation_p.V726F	NM_001199201.1|NM_024687.3	NP_001186130.1|NP_078963.2	A8MT70	ZBBX_HUMAN	zinc finger, B-box domain containing	755						intracellular (GO:0005622)	zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(9)|liver(1)|lung(38)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	70						AATTCCTCAACTCCACAGGGA	0.358																																						ENST00000392766.2																			0				NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(9)|liver(1)|lung(38)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	70						c.(2263-2265)Gtt>Ttt		zinc finger, B-box domain containing							89	83	85					3																	166960306		1811	4067	5878	SO:0001583	missense	79740					intracellular	zinc ion binding	g.chr3:166960306C>A	AK026702	CCDS3199.2, CCDS56295.1, CCDS56296.1	3q26.1	2010-03-23			ENSG00000169064	ENSG00000169064			26245	protein-coding gene	gene with protein product						12477932	Standard	NM_024687		Approved	FLJ23049	uc011bpc.2	A8MT70	OTTHUMG00000133560	ENST00000392766.2:c.2263G>T	3.37:g.166960306C>A	ENSP00000376519:p.Val755Phe					ZBBX_ENST00000392767.2_Missense_Mutation_p.V755F|ZBBX_ENST00000307529.5_Missense_Mutation_p.V794F|ZBBX_ENST00000392764.1_Missense_Mutation_p.V726F|ZBBX_ENST00000455345.2_Missense_Mutation_p.V794F	p.V755F	NM_001199201.1|NM_024687.3	NP_001186130.1|NP_078963.2	A8MT70	ZBBX_HUMAN			20	2603	-			755					A8MV69|B3KSC1|B5MDJ6|F2Z370|Q9H5T8	Missense_Mutation	SNP	ENST00000392766.2	37	c.2263G>T	CCDS3199.2	.	.	.	.	.	.	.	.	.	.	C	12.96	2.093711	0.36952	.	.	ENSG00000169064	ENST00000392766;ENST00000392767;ENST00000455345;ENST00000307529;ENST00000392764	T;T;T;T;T	0.53640	0.61;0.61;0.61;0.61;0.61	5.62	-1.38	0.09027	.	0.865709	0.09824	N	0.751114	T	0.20820	0.0501	N	0.08118	0	0.09310	N	1	B;B	0.18741	0.02;0.03	B;B	0.17098	0.017;0.011	T	0.16571	-1.0398	10	0.34782	T	0.22	-0.747	1.1713	0.01826	0.24:0.388:0.118:0.254	.	794;755	A8MT70-2;A8MT70	.;ZBBX_HUMAN	F	755;755;794;794;726	ENSP00000376519:V755F;ENSP00000376520:V755F;ENSP00000390232:V794F;ENSP00000305065:V794F;ENSP00000376517:V726F	ENSP00000305065:V794F	V	-	1	0	ZBBX	168443000	0.000000	0.05858	0.002000	0.10522	0.008000	0.06430	-0.630000	0.05502	-0.011000	0.14247	0.591000	0.81541	GTT		0.358	ZBBX-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000257657.3	NM_024687		16	25	1	0	6.72482e-11	1	7.14513e-11	16	25					A	166960306	C	A	166960306	3	1	239	1	0	0	0	0	1	0	0	0	17513	565	20	5	147	5	ZBBX	3	166960306	Missense_Mutation	SNP	C	TCGA-HC-A48F-01A-11D-A257-08	151853695	166960306	31062124	6	11140											
TNIK	23043	broad.mit.edu	37	chr3	170805169	170805169	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcctgggaatgggttgagaCgcgccccagtccctcagtcg	6	8	13	14	3	1	1	1	1	0	1	4	3	3	2	4	2	0	1	4	2	1	1	rs201681163		TCGA-HC-A48F-01A-11D-A257-08	TCGA-HC-A48F-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7030b035-d4d9-42fc-ba42-79f3f9d30308	609e8c56-485a-4a1d-aa5d-ab4781c39cc7	g.chr3:170805169C>T	ENST00000436636.2	-	24	3192	c.2848G>A	c.(2848-2850)Gtc>Atc	p.V950I	TNIK_ENST00000475336.1_Missense_Mutation_p.V858I|TNIK_ENST00000470834.1_Missense_Mutation_p.V913I|TNIK_ENST00000460047.1_Missense_Mutation_p.V887I|TNIK_ENST00000488470.1_Missense_Mutation_p.V895I|TNIK_ENST00000341852.6_Missense_Mutation_p.V866I|TNIK_ENST00000284483.8_Missense_Mutation_p.V942I|TNIK_ENST00000357327.5_Missense_Mutation_p.V921I|TNIK_ENST00000538048.1_Missense_Mutation_p.V902I|TNIK_ENST00000369326.5_Missense_Mutation_p.V928I	NM_015028.2	NP_055843.1	Q9UKE5	TNIK_HUMAN	TRAF2 and NCK interacting kinase	950	Mediates interaction with NEDD4.				actin cytoskeleton reorganization (GO:0031532)|activation of JNKK activity (GO:0007256)|cytoskeleton organization (GO:0007010)|intracellular signal transduction (GO:0035556)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of dendrite morphogenesis (GO:0048814)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(22)|ovary(5)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)	62	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)			TGGGTTGAGACGCGCCCCAGT	0.572																																						ENST00000436636.2																			0				cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(22)|ovary(5)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)	62						c.(2848-2850)Gtc>Atc		TRAF2 and NCK interacting kinase							75	78	77					3																	170805169		2013	4181	6194	SO:0001583	missense	23043				actin cytoskeleton reorganization|activation of JNKK activity|protein autophosphorylation|regulation of dendrite morphogenesis|Wnt receptor signaling pathway	cytoskeleton|nucleus|recycling endosome	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chr3:170805169C>T	AF172264	CCDS46956.1, CCDS54673.1, CCDS54674.1, CCDS54675.1, CCDS54676.1, CCDS54677.1, CCDS54678.1, CCDS54679.1	3q26.31	2008-01-23			ENSG00000154310	ENSG00000154310			30765	protein-coding gene	gene with protein product		610005				9628581, 10521462	Standard	NR_027767		Approved	KIAA0551	uc003fhh.2	Q9UKE5	OTTHUMG00000159036	ENST00000436636.2:c.2848G>A	3.37:g.170805169C>T	ENSP00000399511:p.Val950Ile					TNIK_ENST00000460047.1_Missense_Mutation_p.V887I|TNIK_ENST00000488470.1_Missense_Mutation_p.V895I|TNIK_ENST00000475336.1_Missense_Mutation_p.V858I|TNIK_ENST00000369326.5_Missense_Mutation_p.V928I|TNIK_ENST00000341852.6_Missense_Mutation_p.V866I|TNIK_ENST00000284483.8_Missense_Mutation_p.V942I|TNIK_ENST00000470834.1_Missense_Mutation_p.V913I|TNIK_ENST00000538048.1_Missense_Mutation_p.V902I|TNIK_ENST00000357327.5_Missense_Mutation_p.V921I	p.V950I	NM_015028.2	NP_055843.1	Q9UKE5	TNIK_HUMAN	LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		24	3192	-	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)		950			Mediates interaction with NEDD4.		A7E2A3|A8K4U1|D3DNQ6|O60298|Q8WUY7|Q9UKD8|Q9UKD9|Q9UKE0|Q9UKE1|Q9UKE2|Q9UKE3|Q9UKE4	Missense_Mutation	SNP	ENST00000436636.2	37	c.2848G>A	CCDS46956.1	.	.	.	.	.	.	.	.	.	.	C	13.19	2.162146	0.38217	.	.	ENSG00000154310	ENST00000436636;ENST00000369326;ENST00000538048;ENST00000341852;ENST00000284483;ENST00000475336;ENST00000357327;ENST00000460047;ENST00000488470;ENST00000470834	T;T;T;T;T;T;T;T;T;T	0.72505	-0.66;-0.65;-0.64;-0.66;-0.66;-0.66;-0.66;-0.66;-0.65;-0.66	5.93	4.16	0.48862	.	0.474184	0.20697	N	0.087341	T	0.54854	0.1884	N	0.22421	0.69	0.33475	D	0.586747	B;P;B;B;P;P;B;P	0.44195	0.001;0.828;0.001;0.001;0.828;0.828;0.001;0.736	B;B;B;B;B;B;B;B	0.41440	0.003;0.357;0.003;0.003;0.357;0.357;0.003;0.195	T	0.58983	-0.7539	10	0.11182	T	0.66	.	12.3977	0.55395	0.0:0.8654:0.0:0.1346	.	858;913;887;866;942;921;895;950	Q9UKE5-8;Q9UKE5-6;Q9UKE5-7;Q9UKE5-5;Q9UKE5-4;Q9UKE5-2;Q9UKE5-3;Q9UKE5	.;.;.;.;.;.;.;TNIK_HUMAN	I	950;928;902;866;942;858;921;887;895;913	ENSP00000399511:V950I;ENSP00000358332:V928I;ENSP00000443278:V902I;ENSP00000345352:V866I;ENSP00000284483:V942I;ENSP00000418156:V858I;ENSP00000349880:V921I;ENSP00000418916:V887I;ENSP00000418378:V895I;ENSP00000419990:V913I	ENSP00000284483:V942I	V	-	1	0	TNIK	172287863	0.999000	0.42202	0.449000	0.26957	0.753000	0.42808	3.411000	0.52672	0.863000	0.35553	0.655000	0.94253	GTC		0.572	TNIK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000352973.2	XM_039796		41	57	0	0	0	1	0	41	57					T	170805169	C	T	170805169	3	4	239	1	0	0	0	0	1	0	0	0	16310	536	19	1	1274	1	TNIK	3	170805169	Missense_Mutation	SNP	C	TCGA-HC-A48F-01A-11D-A257-08	3844863	170805169	27217261	7	11141											
ACCN5	51802	broad.mit.edu	37	chr4	156784879	156784879	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atggcagtggtttctttgaaAggcaaagctttatcttttct	9	17	9	6	0	3	1	0	1	3	0	3	1	3	1	0	3	1	4	0	3	3	6			TCGA-HC-A48F-01A-11D-A257-08	TCGA-HC-A48F-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7030b035-d4d9-42fc-ba42-79f3f9d30308	609e8c56-485a-4a1d-aa5d-ab4781c39cc7	g.chr4:156784879A>C	ENST00000537611.2	-	2	114	c.68T>G	c.(67-69)cTt>cGt	p.L23R	TDO2_ENST00000506181.1_Intron	NM_017419.2	NP_059115.1	Q9NY37	ASIC5_HUMAN	acid-sensing (proton-gated) ion channel family member 5	23					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	hydrogen ion channel activity (GO:0015252)|ligand-gated sodium channel activity (GO:0015280)										TTTCTTTGAAAGGCAAAGCTT	0.358																																						ENST00000537611.2																			0											c.(67-69)cTt>cGt		acid-sensing (proton-gated) ion channel family member 5							89	91	90					4																	156784879		2203	4300	6503	SO:0001583	missense	51802					integral to membrane|plasma membrane		g.chr4:156784879A>C	AJ252011	CCDS3793.1	4q32.1	2012-10-03	2012-03-02	2012-03-02	ENSG00000256394	ENSG00000256394			17537	protein-coding gene	gene with protein product			"amiloride-sensitive cation channel 5, intestinal"	ACCN5		10767424	Standard	NM_017419		Approved	INAC, HINAC	uc003ipe.1	Q9NY37	OTTHUMG00000161941	ENST00000537611.2:c.68T>G	4.37:g.156784879A>C	ENSP00000442477:p.Leu23Arg					TDO2_ENST00000506181.1_Intron	p.L23R	NM_017419.2	NP_059115.1	Q9NY37	ACCN5_HUMAN			2	114	-			23						Missense_Mutation	SNP	ENST00000537611.2	37	c.68T>G	CCDS3793.1	.	.	.	.	.	.	.	.	.	.	A	9.980	1.228001	0.22542	.	.	ENSG00000256394	ENST00000537611	T	0.68765	-0.35	4.34	4.34	0.51931	.	0.000000	0.50627	D	0.000106	T	0.77329	0.4114	M	0.70595	2.14	0.80722	D	1	D	0.71674	0.998	D	0.66847	0.947	T	0.74639	-0.3598	10	0.18276	T	0.48	0.0026	14.2364	0.65929	1.0:0.0:0.0:0.0	.	23	Q9NY37	ACCN5_HUMAN	R	23	ENSP00000442477:L23R	ENSP00000264432:L23R	L	-	2	0	ACCN5	157004329	1.000000	0.71417	0.144000	0.22314	0.125000	0.20455	5.891000	0.69782	1.919000	0.55581	0.528000	0.53228	CTT		0.358	ASIC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366464.1			30	38	0	0	0	1	0	30	38					C	156784879	A	C	156784879	3	2	239	1	0	0	0	0	1	0	0	0	132	72	3	5	1485	5	ACCN5	4	156784879	Missense_Mutation	SNP	A	TCGA-HC-A48F-01A-11D-A257-08		156784879	34369397	8	11142											
PDZD2	23037	broad.mit.edu	37	chr5	32089965	32089965	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggctctatcgccaggtcgcAgaatcatccacaagtcatcc	11	8	8	14	2	3	1	2	0	1	1	7	1	5	1	3	2	0	2	3	2	3	1			TCGA-HC-A48F-01A-11D-A257-08	TCGA-HC-A48F-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7030b035-d4d9-42fc-ba42-79f3f9d30308	609e8c56-485a-4a1d-aa5d-ab4781c39cc7	g.chr5:32089965A>G	ENST00000438447.1	+	20	6799	c.6411A>G	c.(6409-6411)gcA>gcG	p.A2137A	PDZD2_ENST00000282493.3_Silent_p.A2137A			O15018	PDZD2_HUMAN	PDZ domain containing 2	2137					cell adhesion (GO:0007155)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|nucleus (GO:0005634)				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						GCCAGGTCGCAGAATCATCCA	0.542																																						ENST00000438447.1																			0				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						c.(6409-6411)gcA>gcG		PDZ domain containing 2							99	96	97					5																	32089965		2203	4300	6503	SO:0001819	synonymous_variant	23037				cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus		g.chr5:32089965A>G	AB002298	CCDS34137.1	5p14.1	2008-02-05	2006-01-24	2006-01-24		ENSG00000133401			18486	protein-coding gene	gene with protein product		610697	"PDZ domain containing 3"	PDZK3		9205841	Standard	XM_005248271		Approved	KIAA0300	uc003jhm.3	O15018		ENST00000438447.1:c.6411A>G	5.37:g.32089965A>G						PDZD2_ENST00000282493.3_Silent_p.A2137A	p.A2137A			O15018	PDZD2_HUMAN			20	6799	+			2137					Q9BXD4	Silent	SNP	ENST00000438447.1	37	c.6411A>G	CCDS34137.1																																																																																				0.542	PDZD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366608.1			38	57	0	0	0	1	0	38	57					G	32089965	A	G	32089965	2	3	239	1	0	0	0	0	0	0	0	1	11701	175	7	4		4	PDZD2	5	32089965	Silent	SNP	A	TCGA-HC-A48F-01A-11D-A257-08		32089965	148825295	9	11143											
FTMT	94033	broad.mit.edu	37	chr5	121188192	121188192	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagtcgttgctggaattgcaCgctctagcctcagataaagg	10	10	11	10	2	2	1	1	0	1	1	3	2	2	2	1	2	3	4	1	2	4	4			TCGA-HC-A48F-01A-11D-A257-08	TCGA-HC-A48F-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7030b035-d4d9-42fc-ba42-79f3f9d30308	609e8c56-485a-4a1d-aa5d-ab4781c39cc7	g.chr5:121188192C>T	ENST00000321339.1	+	1	543	c.534C>T	c.(532-534)caC>caT	p.H178H		NM_177478.1	NP_803431.1	Q8N4E7	FTMT_HUMAN	ferritin mitochondrial	178	Ferritin-like diiron. {ECO:0000255|PROSITE-ProRule:PRU00085}.				cellular iron ion homeostasis (GO:0006879)|iron ion transport (GO:0006826)|positive regulation of cell proliferation (GO:0008284)|positive regulation of lyase activity (GO:0051349)|positive regulation of oxidoreductase activity (GO:0051353)|positive regulation of transferase activity (GO:0051347)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	ferric iron binding (GO:0008199)|ferroxidase activity (GO:0004322)	p.H178H(1)		NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	33		all_cancers(142;0.0124)|Prostate(80;0.0322)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	Epithelial(69;0.000171)|OV - Ovarian serous cystadenocarcinoma(64;0.000188)|all cancers(49;0.0027)		TGGAATTGCACGCTCTAGCCT	0.507																																						ENST00000321339.1																			1	Substitution - coding silent(1)	p.H178H(1)	breast(1)	NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	33						c.(532-534)caC>caT		ferritin mitochondrial							135	125	129					5																	121188192		2203	4300	6503	SO:0001819	synonymous_variant	94033				cellular iron ion homeostasis|iron ion transport|positive regulation of cell proliferation|positive regulation of lyase activity|positive regulation of oxidoreductase activity|positive regulation of transferase activity	mitochondrion	ferric iron binding|ferroxidase activity	g.chr5:121188192C>T	BC034419	CCDS4128.1	5q23.1	2008-02-05			ENSG00000181867	ENSG00000181867			17345	protein-coding gene	gene with protein product		608847				11323407	Standard	NM_177478		Approved	MtF	uc003kss.3	Q8N4E7	OTTHUMG00000128912	ENST00000321339.1:c.534C>T	5.37:g.121188192C>T							p.H178H	NM_177478.1	NP_803431.1	Q8N4E7	FTMT_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.206)	Epithelial(69;0.000171)|OV - Ovarian serous cystadenocarcinoma(64;0.000188)|all cancers(49;0.0027)	1	543	+		all_cancers(142;0.0124)|Prostate(80;0.0322)	178			Ferritin-like diiron.			Silent	SNP	ENST00000321339.1	37	c.534C>T	CCDS4128.1																																																																																				0.507	FTMT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250884.1	NM_177478		68	24	0	0	0	1	0	68	24					T	121188192	C	T	121188192	2	4	239	1	0	0	0	0	0	0	0	1	6085	535	19	1		1	FTMT	5	121188192	Silent	SNP	C	TCGA-HC-A48F-01A-11D-A257-08	89098227	121188192	59727068	10	11144											
SHPRH	257218	broad.mit.edu	37	chr6	146264543	146264543	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaccacatatacactcaaaGcggtaatcagaggtgttaaa	16	9	7	9	1	3	1	3	0	0	1	3	1	3	1	1	2	2	2	1	2	6	4			TCGA-HC-A48F-01A-11D-A257-08	TCGA-HC-A48F-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7030b035-d4d9-42fc-ba42-79f3f9d30308	609e8c56-485a-4a1d-aa5d-ab4781c39cc7	g.chr6:146264543G>A	ENST00000367505.2	-	9	2238	c.1974C>T	c.(1972-1974)cgC>cgT	p.R658R	SHPRH_ENST00000438092.2_Silent_p.R658R|SHPRH_ENST00000367503.3_Silent_p.R658R|SHPRH_ENST00000275233.7_Silent_p.R658R			Q149N8	SHPRH_HUMAN	SNF2 histone linker PHD RING helicase, E3 ubiquitin protein ligase	658					DNA repair (GO:0006281)|nucleosome assembly (GO:0006334)|protein polyubiquitination (GO:0000209)	nucleosome (GO:0000786)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(33)|ovary(3)|pancreas(2)|prostate(7)|skin(1)|urinary_tract(1)	79		Ovarian(120;0.0365)		OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124)		TACACTCAAAGCGGTAATCAG	0.418																																						ENST00000367503.3																			0				breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(33)|ovary(3)|pancreas(2)|prostate(7)|skin(1)|urinary_tract(1)	79						c.(1972-1974)cgC>cgT		SNF2 histone linker PHD RING helicase, E3 ubiquitin protein ligase							132	123	126					6																	146264543		1958	4154	6112	SO:0001819	synonymous_variant	257218				DNA repair|nucleosome assembly	nucleosome|nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding	g.chr6:146264543G>A	AB095943	CCDS43513.1, CCDS47496.1, CCDS43513.2	6q24.2	2012-02-23	2012-02-23		ENSG00000146414	ENSG00000146414		"RING-type (C3HC4) zinc fingers"	19336	protein-coding gene	gene with protein product		608048	"SNF2 histone linker PHD RING helicase"			12837266	Standard	NM_001042683		Approved	FLJ90837, KIAA2023, bA545I5.2	uc003qlf.3	Q149N8	OTTHUMG00000015750	ENST00000367505.2:c.1974C>T	6.37:g.146264543G>A						SHPRH_ENST00000438092.2_Silent_p.R658R|SHPRH_ENST00000275233.7_Silent_p.R658R|SHPRH_ENST00000367505.2_Silent_p.R658R	p.R658R	NM_001042683.2	NP_001036148.2	Q149N8	SHPRH_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124)	9	2372	-		Ovarian(120;0.0365)	658					Q149N9|Q5VV79|Q68DS5|Q7Z5J5|Q8IVE8|Q8IWQ9|Q8N1S8|Q8NBR7	Silent	SNP	ENST00000367505.2	37	c.1974C>T	CCDS43513.2																																																																																				0.418	SHPRH-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000042571.2	NM_173082		41	65	0	0	0	1	0	41	65					A	146264543	G	A	146264543	2	1	239	1	0	0	0	0	0	0	0	1	14291	958	34	3		3	SHPRH	6	146264543	Silent	SNP	G	TCGA-HC-A48F-01A-11D-A257-08		146264543	24850524	11	11145											
EPHA1	2041	broad.mit.edu	37	chr7	143095499	143095499	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aggtcagctctagttgcctcGgttctttcttcaccagtctc	5	15	8	13	1	6	0	2	0	4	0	8	0	6	0	2	2	2	3	2	2	1	5	rs202178565		TCGA-HC-A48F-01A-11D-A257-08	TCGA-HC-A48F-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7030b035-d4d9-42fc-ba42-79f3f9d30308	609e8c56-485a-4a1d-aa5d-ab4781c39cc7	g.chr7:143095499G>C	ENST00000275815.3	-	7	1465	c.1379C>G	c.(1378-1380)cCg>cGg	p.P460R		NM_005232.4	NP_005223.4	P21709	EPHA1_HUMAN	EPH receptor A1	460	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				activation of Rho GTPase activity (GO:0032862)|angiogenesis (GO:0001525)|cell surface receptor signaling pathway (GO:0007166)|negative regulation of cell migration (GO:0030336)|negative regulation of protein kinase activity (GO:0006469)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of stress fiber assembly (GO:0051496)|protein autophosphorylation (GO:0046777)|regulation of Rac GTPase activity (GO:0032314)|substrate adhesion-dependent cell spreading (GO:0034446)	integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|transmembrane-ephrin receptor activity (GO:0005005)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(21)|ovary(4)|skin(1)|stomach(1)|urinary_tract(3)	51	Melanoma(164;0.205)	Myeloproliferative disorder(862;0.0255)				TAGTTGCCTCGGTTCTTTCTT	0.552																																						ENST00000275815.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(21)|ovary(4)|skin(1)|stomach(1)|urinary_tract(3)	51						c.(1378-1380)cCg>cGg		EPH receptor A1							53	56	55					7																	143095499		2203	4300	6503	SO:0001583	missense	2041					integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr7:143095499G>C	M18391	CCDS5884.1	7q32-q36	2013-02-11	2004-10-28		ENSG00000146904	ENSG00000146904	2.7.10.1	"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3385	protein-coding gene	gene with protein product		179610	"EphA1"	EPHT, EPHT1		9267020	Standard	NM_005232		Approved	EPH	uc003wcz.3	P21709	OTTHUMG00000155894	ENST00000275815.3:c.1379C>G	7.37:g.143095499G>C	ENSP00000275815:p.Pro460Arg						p.P460R	NM_005232.4	NP_005223.4	P21709	EPHA1_HUMAN			7	1465	-	Melanoma(164;0.205)	Myeloproliferative disorder(862;0.0255)	460			Fibronectin type-III 2.		A1L3V3|B5A966|B5A967|Q15405	Missense_Mutation	SNP	ENST00000275815.3	37	c.1379C>G	CCDS5884.1	.	.	.	.	.	.	.	.	.	.	G	11.35	1.614191	0.28712	.	.	ENSG00000146904	ENST00000275815	T	0.58210	0.35	5.08	5.08	0.68730	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.232852	0.30840	N	0.008774	T	0.57125	0.2032	L	0.41961	1.31	0.30219	N	0.796987	D	0.65815	0.995	D	0.66351	0.943	T	0.49799	-0.8901	10	0.06891	T	0.86	.	12.122	0.53897	0.0:0.173:0.827:0.0	.	460	P21709	EPHA1_HUMAN	R	460	ENSP00000275815:P460R	ENSP00000275815:P460R	P	-	2	0	EPHA1	142805621	0.062000	0.20869	0.914000	0.36105	0.937000	0.57800	1.072000	0.30678	2.517000	0.84864	0.655000	0.94253	CCG		0.552	EPHA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342154.1			12	62	0	0	0	1	0	12	62					C	143095499	G	C	143095499	3	2	239	1	0	0	0	0	1	0	0	0	5165	1116	39	5	1599	5	EPHA1	7	143095499	Missense_Mutation	SNP	G	TCGA-HC-A48F-01A-11D-A257-08		143095499	16043164	12	11146											
OR2A12	346525	broad.mit.edu	37	chr7	143792959	143792959	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtggggcttttctttggcagCgccattgtcatgtacatggc	5	14	13	9	1	2	0	1	0	1	0	2	0	2	0	1	4	2	3	1	4	1	5	rs200437961		TCGA-HC-A48F-01A-11D-A257-08	TCGA-HC-A48F-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7030b035-d4d9-42fc-ba42-79f3f9d30308	609e8c56-485a-4a1d-aa5d-ab4781c39cc7	g.chr7:143792959C>T	ENST00000408949.2	+	1	819	c.759C>T	c.(757-759)agC>agT	p.S253S		NM_001004135.1	NP_001004135.1	Q8NGT7	O2A12_HUMAN	olfactory receptor, family 2, subfamily A, member 12	253						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)	25	Melanoma(164;0.0783)					TCTTTGGCAGCGCCATTGTCA	0.562																																						ENST00000408949.2																			0				breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)	25						c.(757-759)agC>agT		olfactory receptor, family 2, subfamily A, member 12		C		2,3854		0,2,1926	141	137	138		759	0.6	1	7		138	5,8289		0,5,4142	no	coding-synonymous	OR2A12	NM_001004135.1		0,7,6068	TT,TC,CC		0.0603,0.0519,0.0576		253/311	143792959	7,12143	1928	4147	6075	SO:0001819	synonymous_variant	346525				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr7:143792959C>T		CCDS43670.1	7q35	2013-09-20	2002-11-13	2002-11-13	ENSG00000221858	ENSG00000221858		"GPCR / Class A : Olfactory receptors"	15082	protein-coding gene	gene with protein product			"olfactory receptor, family 2, subfamily A, member 12 pseudogene"	OR2A12P			Standard	NM_001004135		Approved		uc011kty.2	Q8NGT7	OTTHUMG00000157996	ENST00000408949.2:c.759C>T	7.37:g.143792959C>T							p.S253S	NM_001004135.1	NP_001004135.1	Q8NGT7	O2A12_HUMAN			1	819	+	Melanoma(164;0.0783)		253					Q6IF43	Silent	SNP	ENST00000408949.2	37	c.759C>T	CCDS43670.1																																																																																				0.562	OR2A12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349969.1			124	121	0	0	0	1	0	124	121					T	143792959	C	T	143792959	2	4	239	1	0	0	0	0	0	0	0	1	10975	767	27	1		1	OR2A12	7	143792959	Silent	SNP	C	TCGA-HC-A48F-01A-11D-A257-08	697460	143792959	15345704	13	11147											
GIMAP5	55340	broad.mit.edu	37	chr7	150439591	150439591	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctggtgatccagctggggCgtttcactgctcaggacaca	7	11	12	11	1	3	1	2	1	1	0	4	2	4	2	1	4	2	3	1	4	0	2	rs202237347		TCGA-HC-A48F-01A-11D-A257-08	TCGA-HC-A48F-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7030b035-d4d9-42fc-ba42-79f3f9d30308	609e8c56-485a-4a1d-aa5d-ab4781c39cc7	g.chr7:150439591C>T	ENST00000358647.3	+	3	731	c.364C>T	c.(364-366)Cgt>Tgt	p.R122C	GIMAP5_ENST00000479556.1_3'UTR	NM_018384.4	NP_060854.2	Q96F15	GIMA5_HUMAN	GTPase, IMAP family member 5	122	AIG1-type G.				myeloid dendritic cell differentiation (GO:0043011)|negative regulation of apoptotic process (GO:0043066)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of lipid catabolic process (GO:0050995)|negative regulation of nitric oxide biosynthetic process (GO:0045019)|negative regulation of T cell activation (GO:0050868)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation (GO:0032831)|positive regulation of gamma-delta T cell differentiation (GO:0045588)|positive regulation of humoral immune response mediated by circulating immunoglobulin (GO:0002925)|positive regulation of membrane potential (GO:0045838)|positive regulation of natural killer cell cytokine production (GO:0002729)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|regulation of mitochondrial membrane permeability (GO:0046902)|T cell differentiation (GO:0030217)|T cell homeostasis (GO:0043029)|temperature homeostasis (GO:0001659)	integral component of membrane (GO:0016021)|lysosome (GO:0005764)|mitochondrial outer membrane (GO:0005741)	GTP binding (GO:0005525)	p.R122C(1)		central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|urinary_tract(2)	19			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CCAGCTGGGGCGTTTCACTGC	0.582																																						ENST00000358647.3																			1	Substitution - Missense(1)	p.R122C(1)	large_intestine(1)	central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|urinary_tract(2)	19						c.(364-366)Cgt>Tgt		GTPase, IMAP family member 5		C	CYS/ARG,CYS/ARG	0,4406		0,0,2203	75	75	75		976,364	4.2	0.9	7		75	2,8598	3.0+/-9.4	0,2,4298	no	missense,missense	GIMAP5,GIMAP1-GIMAP5	NM_001199577.1,NM_018384.4	180,180	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	probably-damaging,probably-damaging	326/512,122/308	150439591	2,13004	2203	4300	6503	SO:0001583	missense	55340							g.chr7:150439591C>T	AK002158	CCDS5907.1	7q36.1	2014-04-04	2004-10-29	2004-10-30	ENSG00000196329	ENSG00000196329		"GTPases, IMAP"	18005	protein-coding gene	gene with protein product	"immune-associated nucleotide-binding protein 5"	608086	"immune associated nucleotide 4 like 1 (mouse)"	IAN4L1			Standard	NM_018384		Approved	HIMAP3, IAN5		Q96F15	OTTHUMG00000157542	ENST00000358647.3:c.364C>T	7.37:g.150439591C>T	ENSP00000351473:p.Arg122Cys					GIMAP5_ENST00000479556.1_3'UTR	p.R122C	NM_018384.4	NP_060854.2			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	3	731	+								D3DWZ5|Q6IA75|Q96NE4|Q9NUK9	Missense_Mutation	SNP	ENST00000358647.3	37	c.364C>T	CCDS5907.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.223673	0.79576	0.0	2.33E-4	ENSG00000196329	ENST00000358647;ENST00000447239	T	0.08458	3.09	4.15	4.15	0.48705	AIG1 (1);	0.000000	0.85682	D	0.000000	T	0.34193	0.0889	M	0.90977	3.165	0.53005	D	0.999966	D	0.89917	1.0	D	0.79108	0.992	T	0.35895	-0.9770	10	0.87932	D	0	.	11.7844	0.52034	0.0:1.0:0.0:0.0	.	122	Q96F15	GIMA5_HUMAN	C	122;158	ENSP00000351473:R122C	ENSP00000351473:R122C	R	+	1	0	GIMAP5	150070524	0.000000	0.05858	0.945000	0.38365	0.813000	0.45954	0.074000	0.14662	2.143000	0.66587	0.655000	0.94253	CGT		0.582	GIMAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349108.2	NM_018384		78	80	0	0	0	1	0	78	80					T	150439591	C	T	150439591	3	4	239	1	0	0	0	0	1	0	0	0	6382	768	27	1	370	1	GIMAP5	7	150439591	Missense_Mutation	SNP	C	TCGA-HC-A48F-01A-11D-A257-08	6646632	150439591	8699072	14	11148											
GTF2E2	2961	broad.mit.edu	37	chr8	30436473	30436473	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aatgtcagagtaatccttcaGcactccagccaagtgttcgt	11	11	8	11	1	2	1	2	0	0	1	5	1	4	1	3	0	2	3	3	0	3	3			TCGA-HC-A48F-01A-11D-A257-08	TCGA-HC-A48F-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7030b035-d4d9-42fc-ba42-79f3f9d30308	609e8c56-485a-4a1d-aa5d-ab4781c39cc7	g.chr8:30436473G>A	ENST00000355904.4	-	8	1123	c.841C>T	c.(841-843)Ctg>Ttg	p.L281L		NM_002095.4	NP_002086.1	P29084	T2EB_HUMAN	general transcription factor IIE, polypeptide 2, beta 34kDa	281					gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIIE complex (GO:0005673)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12				KIRC - Kidney renal clear cell carcinoma(542;0.113)|Kidney(114;0.135)		TAATCCTTCAGCACTCCAGCC	0.433																																						ENST00000355904.4																			0				endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						c.(841-843)Ctg>Ttg		general transcription factor IIE, polypeptide 2, beta 34kDa							173	156	162					8																	30436473		2203	4300	6503	SO:0001819	synonymous_variant	2961				regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	transcription factor TFIIE complex	DNA binding|protein binding	g.chr8:30436473G>A	BC030572	CCDS6078.1	8p12	2010-03-23	2002-08-29		ENSG00000197265	ENSG00000197265		"General transcription factors"	4651	protein-coding gene	gene with protein product		189964	"general transcription factor IIE, polypeptide 2 (beta subunit, 34kD)"			1956404	Standard	NM_002095		Approved	TFIIE-B, FE, TF2E2	uc003xig.3	P29084	OTTHUMG00000163934	ENST00000355904.4:c.841C>T	8.37:g.30436473G>A							p.L281L	NM_002095.4	NP_002086.1	P29084	T2EB_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.113)|Kidney(114;0.135)	8	1123	-			281					D3DSV2|Q9H2B9	Silent	SNP	ENST00000355904.4	37	c.841C>T	CCDS6078.1																																																																																				0.433	GTF2E2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376459.2	NM_002095		33	7	0	0	0	1	0	33	7					A	30436473	G	A	30436473	2	1	239	1	0	0	0	0	0	0	0	1	6857	962	34	3		3	GTF2E2	8	30436473	Silent	SNP	G	TCGA-HC-A48F-01A-11D-A257-08		30436473	115927549	15	11149											
TAF1L	138474	broad.mit.edu	37	chr9	32632097	32632097	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atcatctctgtgattgtttcCtgatgctgctgagcctgcta	6	16	9	10	0	2	3	1	3	1	0	4	3	3	3	2	0	4	4	2	0	1	3			TCGA-HC-A48F-01A-11D-A257-08	TCGA-HC-A48F-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7030b035-d4d9-42fc-ba42-79f3f9d30308	609e8c56-485a-4a1d-aa5d-ab4781c39cc7	g.chr9:32632097C>T	ENST00000242310.4	-	1	3570	c.3481G>A	c.(3481-3483)Gga>Aga	p.G1161R	RP11-555J4.4_ENST00000430787.1_RNA	NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	1161					DNA-templated transcription, initiation (GO:0006352)|histone acetylation (GO:0016573)|male meiosis (GO:0007140)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	transcription factor TFIID complex (GO:0005669)	DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine-acetylated histone binding (GO:0070577)|protein serine/threonine kinase activity (GO:0004674)|TBP-class protein binding (GO:0017025)			breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		TGATTGTTTCCTGATGCTGCT	0.493																																						ENST00000242310.4																			0				breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159						c.(3481-3483)Gga>Aga		TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like							223	167	186					9																	32632097		2203	4300	6503	SO:0001583	missense	138474				male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding	g.chr9:32632097C>T	AF390562	CCDS35003.1	9p12	2007-07-27	2007-07-27		ENSG00000122728	ENSG00000122728			18056	protein-coding gene	gene with protein product		607798	"TAF1-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa"			12217962	Standard	NM_153809		Approved		uc003zrg.1	Q8IZX4	OTTHUMG00000019747	ENST00000242310.4:c.3481G>A	9.37:g.32632097C>T	ENSP00000418379:p.Gly1161Arg						p.G1161R	NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)	1	3570	-			1161					Q0VG57	Missense_Mutation	SNP	ENST00000242310.4	37	c.3481G>A	CCDS35003.1	.	.	.	.	.	.	.	.	.	.	C	10.77	1.445111	0.25987	.	.	ENSG00000122728	ENST00000242310	T	0.16196	2.36	0.479	0.479	0.16796	.	0.334685	0.34932	N	0.003562	T	0.12987	0.0315	L	0.54323	1.7	0.32523	N	0.535988	B	0.14012	0.009	B	0.12156	0.007	T	0.15492	-1.0435	10	0.19590	T	0.45	.	6.6915	0.23174	0.0:0.9998:0.0:2.0E-4	.	1161	Q8IZX4	TAF1L_HUMAN	R	1161	ENSP00000418379:G1161R	ENSP00000418379:G1161R	G	-	1	0	TAF1L	32622097	1.000000	0.71417	0.985000	0.45067	0.454000	0.32378	1.247000	0.32815	0.507000	0.28148	0.195000	0.17529	GGA		0.493	TAF1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052012.2			10	84	0	0	0	1	0	10	84					T	32632097	C	T	32632097	3	4	239	1	0	0	0	0	1	0	0	0	15520	690	24	3	2003	3	TAF1L	9	32632097	Missense_Mutation	SNP	C	TCGA-HC-A48F-01A-11D-A257-08		32632097	108581334	16	11150											
ZBTB16	7704	broad.mit.edu	37	chr11	114113039	114113039	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagccacacggctctcaaacGccacctgcgctcacatacag	11	5	7	18	3	2	0	2	0	1	0	3	0	2	0	3	1	4	2	3	1	2	1			TCGA-HC-A48F-01A-11D-A257-08	TCGA-HC-A48F-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7030b035-d4d9-42fc-ba42-79f3f9d30308	609e8c56-485a-4a1d-aa5d-ab4781c39cc7	g.chr11:114113039G>A	ENST00000335953.4	+	5	1984	c.1604G>A	c.(1603-1605)cGc>cAc	p.R535H	ZBTB16_ENST00000535379.1_3'UTR|ZBTB16_ENST00000392996.2_Missense_Mutation_p.R535H|RP11-64D24.2_ENST00000544925.1_RNA	NM_006006.4	NP_005997.2	Q05516	ZBT16_HUMAN	zinc finger and BTB domain containing 16	535					anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|cartilage development (GO:0051216)|central nervous system development (GO:0007417)|embryonic digit morphogenesis (GO:0042733)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic pattern specification (GO:0009880)|forelimb morphogenesis (GO:0035136)|hemopoiesis (GO:0030097)|male germ-line stem cell asymmetric division (GO:0048133)|mesonephros development (GO:0001823)|myeloid cell differentiation (GO:0030099)|negative regulation of cell proliferation (GO:0008285)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cartilage development (GO:0061036)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of NK T cell differentiation (GO:0051138)|positive regulation of ossification (GO:0045778)|positive regulation of transcription, DNA-templated (GO:0045893)|protein localization to nucleus (GO:0034504)|protein ubiquitination (GO:0016567)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|nuclear body (GO:0016604)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)|transcriptional repressor complex (GO:0017053)	DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R535H(1)		central_nervous_system(1)|large_intestine(2)|skin(1)|upper_aerodigestive_tract(2)	6		all_cancers(61;3.79e-18)|all_epithelial(67;2.32e-10)|all_hematologic(158;2.96e-05)|Melanoma(852;0.000362)|Acute lymphoblastic leukemia(157;0.00108)|Breast(348;0.0104)|all_neural(223;0.0294)|Prostate(24;0.0318)|Medulloblastoma(222;0.0438)		BRCA - Breast invasive adenocarcinoma(274;6.75e-06)|Epithelial(105;0.000181)|all cancers(92;0.0018)		GCTCTCAAACGCCACCTGCGC	0.597																																						ENST00000335953.4																			1	Substitution - Missense(1)	p.R535H(1)	endometrium(1)	central_nervous_system(1)|large_intestine(2)|skin(1)|upper_aerodigestive_tract(2)	6						c.(1603-1605)cGc>cAc		zinc finger and BTB domain containing 16							45	37	39					11																	114113039		2201	4296	6497	SO:0001583	missense	7704				apoptosis|central nervous system development|mesonephros development|myeloid cell differentiation|negative regulation of myeloid cell differentiation|negative regulation of transcription, DNA-dependent	nuclear speck|PML body|transcriptional repressor complex	protein homodimerization activity|zinc ion binding	g.chr11:114113039G>A	Z19002	CCDS8367.1	11q23	2013-10-17	2004-07-16	2004-07-16	ENSG00000109906	ENSG00000109906		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	12930	protein-coding gene	gene with protein product	"promyelocytic leukaemia zinc finger"	176797	"zinc finger protein 145 (Kruppel-like, expressed in promyelocytic leukemia)"	ZNF145			Standard	XM_006718899		Approved	PLZF	uc001poq.3	Q05516	OTTHUMG00000168243	ENST00000335953.4:c.1604G>A	11.37:g.114113039G>A	ENSP00000338157:p.Arg535His					ZBTB16_ENST00000392996.2_Missense_Mutation_p.R535H|ZBTB16_ENST00000535379.1_3'UTR|RP11-64D24.2_ENST00000544925.1_RNA	p.R535H	NM_006006.4	NP_005997.2	Q05516	ZBT16_HUMAN		BRCA - Breast invasive adenocarcinoma(274;6.75e-06)|Epithelial(105;0.000181)|all cancers(92;0.0018)	5	1984	+		all_cancers(61;3.79e-18)|all_epithelial(67;2.32e-10)|all_hematologic(158;2.96e-05)|Melanoma(852;0.000362)|Acute lymphoblastic leukemia(157;0.00108)|Breast(348;0.0104)|all_neural(223;0.0294)|Prostate(24;0.0318)|Medulloblastoma(222;0.0438)	535					Q8TAL4	Missense_Mutation	SNP	ENST00000335953.4	37	c.1604G>A	CCDS8367.1	.	.	.	.	.	.	.	.	.	.	G	29.7	5.028958	0.93518	.	.	ENSG00000109906	ENST00000335953;ENST00000392996;ENST00000310883	T;T	0.26810	1.71;1.71	5.65	4.71	0.59529	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.129675	0.48286	D	0.000196	T	0.41627	0.1167	L	0.45137	1.4	0.49130	D	0.99975	D	0.89917	1.0	D	0.64687	0.928	T	0.24119	-1.0169	10	0.48119	T	0.1	-18.3181	15.9068	0.79436	0.0:0.0:0.8636:0.1364	.	535	Q05516	ZBT16_HUMAN	H	535;535;412	ENSP00000338157:R535H;ENSP00000376721:R535H	ENSP00000309507:R412H	R	+	2	0	ZBTB16	113618249	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.725000	0.98778	1.454000	0.47793	0.655000	0.94253	CGC		0.597	ZBTB16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398940.1	NM_006006		20	28	0	0	0	1	0	20	28					A	114113039	G	A	114113039	3	1	239	1	0	0	0	0	1	0	0	0	17523	1087	38	1	1618	1	ZBTB16	11	114113039	Missense_Mutation	SNP	G	TCGA-HC-A48F-01A-11D-A257-08		114113039	20893477	17	11151											
GALNT8	26290	broad.mit.edu	37	chr12	4874639	4874639	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgacagaccctggcaaggCggagaagcccaccttagaac	12	4	11	14	1	0	4	0	1	0	3	0	5	0	4	4	3	2	1	4	3	4	1			TCGA-HC-A48F-01A-11D-A257-08	TCGA-HC-A48F-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7030b035-d4d9-42fc-ba42-79f3f9d30308	609e8c56-485a-4a1d-aa5d-ab4781c39cc7	g.chr12:4874639C>T	ENST00000252318.2	+	10	2025	c.1688C>T	c.(1687-1689)gCg>gTg	p.A563V		NM_017417.1	NP_059113.1	Q9NY28	GALT8_HUMAN	polypeptide N-acetylgalactosaminyltransferase 8	563	Ricin B-type lectin. {ECO:0000255|PROSITE-ProRule:PRU00174}.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)	p.A563V(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	35						CCTGGCAAGGCGGAGAAGCCC	0.463																																					Colon(108;631 1558 7270 20097 39846)	ENST00000252318.2																			1	Substitution - Missense(1)	p.A563V(1)	large_intestine(1)	central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	35						c.(1687-1689)gCg>gTg		UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 8 (GalNAc-T8)							124	118	120					12																	4874639		2203	4300	6503	SO:0001583	missense	26290					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr12:4874639C>T	AJ271385	CCDS8533.1	12p13.32	2014-03-13	2014-03-13		ENSG00000130035	ENSG00000130035	2.4.1.41	"Glycosyltransferase family 2 domain containing"	4130	protein-coding gene	gene with protein product	"polypeptide GalNAc transferase 8"	606250	"UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 8 (GalNAc-T8)"			10767557	Standard	NM_017417		Approved	GALNAC-T8	uc001qne.1	Q9NY28	OTTHUMG00000166188	ENST00000252318.2:c.1688C>T	12.37:g.4874639C>T	ENSP00000252318:p.Ala563Val						p.A563V	NM_017417.1	NP_059113.1	Q9NY28	GALT8_HUMAN			10	2025	+			563			Ricin B-type lectin.		B2RU02	Missense_Mutation	SNP	ENST00000252318.2	37	c.1688C>T	CCDS8533.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.99|13.99	2.402959|2.402959	0.42613|0.42613	.|.	.|.	ENSG00000130035|ENSG00000130035	ENST00000252318|ENST00000542998;ENST00000535354	T|.	0.30448|.	1.53|.	4.19|4.19	3.3|3.3	0.37823|0.37823	Ricin B-related lectin (1);Ricin B lectin (3);|.	0.544168|.	0.16565|.	N|.	0.208875|.	T|T	0.36799|0.36799	0.0980|0.0980	L|L	0.36672|0.36672	1.1|1.1	0.09310|0.09310	N|N	1|1	D|.	0.58620|.	0.983|.	P|.	0.45310|.	0.476|.	T|T	0.20371|0.20371	-1.0277|-1.0277	10|5	0.66056|.	D|.	0.02|.	.|.	9.6776|9.6776	0.40050|0.40050	0.0:0.2271:0.7729:0.0|0.0:0.2271:0.7729:0.0	.|.	563|.	Q9NY28|.	GALT8_HUMAN|.	V|W	563|80;59	ENSP00000252318:A563V|.	ENSP00000252318:A563V|.	A|R	+|+	2|1	0|2	GALNT8|GALNT8	4744900|4744900	1.000000|1.000000	0.71417|0.71417	0.026000|0.026000	0.17262|0.17262	0.004000|0.004000	0.04260|0.04260	3.747000|3.747000	0.55134|0.55134	0.966000|0.966000	0.38159|0.38159	-0.165000|-0.165000	0.13383|0.13383	GCG|CGG		0.463	GALNT8-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388277.2	NM_017417		15	5	0	0	0	1	0	15	5					T	4874639	C	T	4874639	3	4	239	1	0	0	0	0	1	0	0	0	6219	768	27	1	1726	1	GALNT8	12	4874639	Missense_Mutation	SNP	C	TCGA-HC-A48F-01A-11D-A257-08		4874639	128977256	18	11152											
POLE	5426	broad.mit.edu	37	chr12	133226399	133226399	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggggctgctgggtgaggcAgctttacgaggccgaagtcc	7	7	17	10	2	0	1	0	1	0	0	1	3	1	1	2	5	3	4	2	5	2	2			TCGA-HC-A48F-01A-11D-A257-08	TCGA-HC-A48F-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7030b035-d4d9-42fc-ba42-79f3f9d30308	609e8c56-485a-4a1d-aa5d-ab4781c39cc7	g.chr12:133226399A>G	ENST00000320574.5	-	30	3702	c.3659T>C	c.(3658-3660)cTg>cCg	p.L1220P	POLE_ENST00000535270.1_Missense_Mutation_p.L1193P	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit	1220					base-excision repair, gap-filling (GO:0006287)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA synthesis involved in DNA repair (GO:0000731)|G1/S transition of mitotic cell cycle (GO:0000082)|in utero embryonic development (GO:0001701)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	cytoplasm (GO:0005737)|epsilon DNA polymerase complex (GO:0008622)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	4 iron, 4 sulfur cluster binding (GO:0051539)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|nucleotide binding (GO:0000166)|zinc ion binding (GO:0008270)			NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)	Cladribine(DB00242)	TGGGTGAGGCAGCTTTACGAG	0.602								DNA polymerases (catalytic subunits)																														ENST00000320574.5																			0				NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89						c.(3658-3660)cTg>cCg	DNA polymerases (catalytic subunits)	polymerase (DNA directed), epsilon, catalytic subunit							70	63	65					12																	133226399		2203	4300	6503	SO:0001583	missense	5426				base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding	g.chr12:133226399A>G		CCDS9278.1	12q24.3	2014-09-17	2012-05-18		ENSG00000177084	ENSG00000177084		"DNA polymerases"	9177	protein-coding gene	gene with protein product	"DNA polymerase epsilon catalytic subunit A"	174762	"polymerase (DNA directed), epsilon"			8020968	Standard	NM_006231		Approved	POLE1	uc001uks.1	Q07864	OTTHUMG00000168045	ENST00000320574.5:c.3659T>C	12.37:g.133226399A>G	ENSP00000322570:p.Leu1220Pro					POLE_ENST00000535270.1_Missense_Mutation_p.L1193P	p.L1220P	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)	30	3702	-	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)	1220					Q13533|Q86VH9	Missense_Mutation	SNP	ENST00000320574.5	37	c.3659T>C	CCDS9278.1	.	.	.	.	.	.	.	.	.	.	a	7.630	0.678586	0.14841	.	.	ENSG00000177084	ENST00000320574;ENST00000455752;ENST00000535270;ENST00000539006;ENST00000536445;ENST00000503265	T;T;T;T	0.14144	4.18;4.18;4.19;2.53	5.89	-0.705	0.11252	.	0.749114	0.13634	N	0.373443	T	0.02012	0.0063	N	0.00210	-1.845	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.41963	-0.9479	10	0.22109	T	0.4	.	0.1682	0.00110	0.251:0.1965:0.2484:0.3041	.	1193;1220	F5H1D6;Q07864	.;DPOE1_HUMAN	P	1220;1231;1193;1000;197;24	ENSP00000322570:L1220P;ENSP00000406383:L1231P;ENSP00000445753:L1193P;ENSP00000442519:L1000P	ENSP00000322570:L1220P	L	-	2	0	POLE	131736472	0.656000	0.27385	0.004000	0.12327	0.002000	0.02628	0.969000	0.29370	-0.150000	0.11195	-1.378000	0.01179	CTG		0.602	POLE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397689.2	NM_006231		8	61	0	0	0	1	0	8	61					G	133226399	A	G	133226399	3	3	239	1	0	0	0	0	1	0	0	0	12196	188	7	4	3281	4	POLE	12	133226399	Missense_Mutation	SNP	A	TCGA-HC-A48F-01A-11D-A257-08	128351760	133226399	625496	19	11153											
ALPK3	57538	broad.mit.edu	37	chr15	85403130	85403130	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accgacttctgcctcagcccTgagggtgagtgtgccccgcg	5	8	13	15	3	2	2	1	2	1	0	2	3	2	2	5	1	3	0	5	1	0	1			TCGA-HC-A48F-01A-11D-A257-08	TCGA-HC-A48F-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7030b035-d4d9-42fc-ba42-79f3f9d30308	609e8c56-485a-4a1d-aa5d-ab4781c39cc7	g.chr15:85403130T>G	ENST00000258888.5	+	8	4862	c.4695T>G	c.(4693-4695)ccT>ccG	p.P1565P		NM_020778.4	NP_065829.3	Q96L96	ALPK3_HUMAN	alpha-kinase 3	1565					heart development (GO:0007507)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	81			BRCA - Breast invasive adenocarcinoma(143;0.0587)			GCCTCAGCCCTGAGGGTGAGT	0.652																																						ENST00000258888.5																			0				NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	81						c.(4693-4695)ccT>ccG		alpha-kinase 3							62	62	62					15																	85403130		2203	4299	6502	SO:0001819	synonymous_variant	57538				heart development	nucleus	ATP binding|protein serine/threonine kinase activity	g.chr15:85403130T>G	AY044449	CCDS10333.1	15q25.2	2013-01-29			ENSG00000136383	ENSG00000136383		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	17574	protein-coding gene	gene with protein product	"myocyte induction differentiation originator", "muscle alpha-kinase"					10021370	Standard	NM_020778		Approved	MAK, KIAA1330, Midori	uc002ble.3	Q96L96	OTTHUMG00000148667	ENST00000258888.5:c.4695T>G	15.37:g.85403130T>G							p.P1565P	NM_020778.4	NP_065829.3	Q96L96	ALPK3_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0587)		8	4862	+			1565					Q9P2L6	Silent	SNP	ENST00000258888.5	37	c.4695T>G	CCDS10333.1																																																																																				0.652	ALPK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000308997.1	NM_020778		50	62	0	0	0	1	0	50	62					G	85403130	T	G	85403130	2	3	239	1	0	0	0	0	0	0	0	1	546	1567	55	5		5	ALPK3	15	85403130	Silent	SNP	T	TCGA-HC-A48F-01A-11D-A257-08		85403130	17128262	20	11154											
TP53	7157	broad.mit.edu	37	chr17	7578509	7578509	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacccacagctgcacagggcAggtcttggccagttggcaaa	11	6	12	12	0	1	0	0	0	1	0	1	0	1	0	2	4	3	5	2	4	2	2			TCGA-HC-A48F-01A-11D-A257-08	TCGA-HC-A48F-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7030b035-d4d9-42fc-ba42-79f3f9d30308	609e8c56-485a-4a1d-aa5d-ab4781c39cc7	g.chr17:7578509A>C	ENST00000269305.4	-	5	610	c.421T>G	c.(421-423)Tgc>Ggc	p.C141G	TP53_ENST00000359597.4_Missense_Mutation_p.C141G|TP53_ENST00000445888.2_Missense_Mutation_p.C141G|TP53_ENST00000413465.2_Missense_Mutation_p.C141G|TP53_ENST00000455263.2_Missense_Mutation_p.C141G|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000420246.2_Missense_Mutation_p.C141G	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	141	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		C -> A (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|C -> F (in sporadic cancers; somatic mutation).|C -> G (in sporadic cancers; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in LFS; germline mutation and in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.C141R(13)|p.0?(8)|p.A138_P142delAKTCP(4)|p.N131fs*27(2)|p.C141S(2)|p.C141fs*8(2)|p.L137_W146del10(1)|p.K139fs*4(1)|p.A45_P49delAKTCP(1)|p.C141fs*34(1)|p.C141fs*30(1)|p.C9R(1)|p.A6_P10delAKTCP(1)|p.A138_V143delAKTCPV(1)|p.C48R(1)|p.C141fs*29(1)|p.C141A(1)|p.C141G(1)|p.K139_C141>N(1)|p.K139fs*29(1)|p.T140fs*28(1)|p.C141fs*5(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	TGCACAGGGCAGGTCTTGGCC	0.567		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"Mis, N, F"	tumor protein p53			"L, E, M, O"		"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"	"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"		47	Substitution - Missense(19)|Deletion - In frame(8)|Whole gene deletion(8)|Deletion - Frameshift(6)|Insertion - Frameshift(4)|Complex - frameshift(1)|Complex - deletion inframe(1)	p.C141R(13)|p.0?(8)|p.A138_P142delAKTCP(4)|p.N131fs*27(2)|p.C141S(2)|p.C141fs*8(2)|p.L137_W146del10(1)|p.K139fs*4(1)|p.A45_P49delAKTCP(1)|p.C141fs*34(1)|p.C141fs*30(1)|p.C9R(1)|p.A6_P10delAKTCP(1)|p.A138_V143delAKTCPV(1)|p.C48R(1)|p.C141fs*29(1)|p.C141A(1)|p.C141G(1)|p.K139_C141>N(1)|p.K139fs*29(1)|p.T140fs*28(1)|p.C141fs*5(1)	ovary(11)|large_intestine(7)|breast(7)|central_nervous_system(5)|bone(4)|upper_aerodigestive_tract(2)|stomach(2)|haematopoietic_and_lymphoid_tissue(2)|urinary_tract(2)|prostate(2)|biliary_tract(1)|lung(1)|oesophagus(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185						c.(421-423)Tgc>Ggc	Other conserved DNA damage response genes	tumor protein p53							56	55	56					17																	7578509		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578509A>C	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"Li-Fraumeni syndrome"	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.421T>G	17.37:g.7578509A>C	ENSP00000269305:p.Cys141Gly	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_ENST00000445888.2_Missense_Mutation_p.C141G|TP53_ENST00000413465.2_Missense_Mutation_p.C141G|TP53_ENST00000455263.2_Missense_Mutation_p.C141G|TP53_ENST00000359597.4_Missense_Mutation_p.C141G|TP53_ENST00000269305.4_Missense_Mutation_p.C141G	p.C141G	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	5	553	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	141		C -> A (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|C -> F (in sporadic cancers; somatic mutation).|C -> G (in sporadic cancers; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in LFS; germline mutation and in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.421T>G	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	A	13.47	2.246323	0.39697	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315;ENST00000508793	D;D;D;D;D;D;D;D;D	0.99814	-6.89;-6.89;-6.89;-6.89;-6.89;-6.89;-6.89;-6.89;-6.89	5.48	4.41	0.53225	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.046412	0.85682	D	0.000000	D	0.99746	0.9899	M	0.90309	3.105	0.58432	D	0.999991	D;D;D;D;D;D;D	0.89917	1.0;0.997;0.997;1.0;0.998;1.0;1.0	D;D;D;D;D;D;D	0.97110	1.0;0.992;0.99;1.0;0.996;1.0;1.0	D	0.97919	1.0313	10	0.87932	D	0	-26.1094	9.8103	0.40820	0.918:0.0:0.082:0.0	.	102;141;141;48;141;141;141	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	G	141;141;141;141;141;141;130;48;9;48;9;141	ENSP00000410739:C141G;ENSP00000352610:C141G;ENSP00000269305:C141G;ENSP00000398846:C141G;ENSP00000391127:C141G;ENSP00000391478:C141G;ENSP00000425104:C9G;ENSP00000423862:C48G;ENSP00000424104:C141G	ENSP00000269305:C141G	C	-	1	0	TP53	7519234	1.000000	0.71417	0.996000	0.52242	0.026000	0.11368	5.164000	0.64954	1.020000	0.39573	-0.256000	0.11100	TGC		0.567	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		21	16	0	0	0	1	0	21	16					C	7578509	A	C	7578509	3	2	239	1	0	0	0	0	1	0	0	0	16378	188	7	5	877	5	TP53	17	7578509	Missense_Mutation	SNP	A	TCGA-HC-A48F-01A-11D-A257-08		7578509	73616701	21	11155											
CPT1C	126129	broad.mit.edu	37	chr19	50214114	50214114	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atggaggacaaagagaagacGgtgggtgcagccctcgcttg	11	6	16	8	2	0	2	0	0	0	2	1	5	0	4	1	4	2	2	1	4	2	1			TCGA-HC-A48F-01A-11D-A257-08	TCGA-HC-A48F-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7030b035-d4d9-42fc-ba42-79f3f9d30308	609e8c56-485a-4a1d-aa5d-ab4781c39cc7	g.chr19:50214114G>A	ENST00000392518.4	+	16	2238	c.1866G>A	c.(1864-1866)acG>acA	p.T622T	CPT1C_ENST00000405931.2_Splice_Site_p.T611T|CPT1C_ENST00000598293.1_Splice_Site_p.T622T|CPT1C_ENST00000323446.5_Splice_Site_p.T622T|CPT1C_ENST00000354199.5_Splice_Site_p.T622T	NM_001199752.1	NP_001186681.1	Q8TCG5	CPT1C_HUMAN	carnitine palmitoyltransferase 1C	622					carnitine metabolic process (GO:0009437)|fatty acid beta-oxidation (GO:0006635)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|endoplasmic reticulum membrane (GO:0005789)|mitochondrial outer membrane (GO:0005741)|synapse (GO:0045202)	carnitine O-palmitoyltransferase activity (GO:0004095)			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.00786)		AAGAGAAGACGGTGGGTGCAG	0.567																																						ENST00000392518.4																			0				breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.e16+1		carnitine palmitoyltransferase 1C							44	43	43					19																	50214114		2203	4300	6503	SO:0001630	splice_region_variant	126129				fatty acid metabolic process	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity	g.chr19:50214114G>A	AF357970	CCDS12779.1, CCDS46147.1	19q13.33	2014-03-14				ENSG00000169169			18540	protein-coding gene	gene with protein product		608846				12376098, 11001805	Standard	NM_001136052		Approved	FLJ23809, CPTIC, CPT1P	uc010eng.3	Q8TCG5		ENST00000392518.4:c.1866+1G>A	19.37:g.50214114G>A						CPT1C_ENST00000354199.5_Splice_Site_p.T622_splice|CPT1C_ENST00000323446.5_Splice_Site_p.T622_splice|CPT1C_ENST00000405931.2_Splice_Site_p.T611_splice|CPT1C_ENST00000598293.1_Splice_Site_p.T622_splice	p.T622_splice	NM_001199752.1	NP_001186681.1	Q8TCG5	CPT1C_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.00786)	16	2238	+		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)	622					A8K0Z8|Q5K6N5|Q8N6Q9|Q8NDS6|Q8TE84	Splice_Site	SNP	ENST00000392518.4	37	c.1866_splice	CCDS12779.1																																																																																				0.567	CPT1C-008	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465873.1	NM_152359	Silent	23	32	0	0	0	1	0	23	32					A	50214114	G	A	50214114	5	1	239	1	0	0	0	0	0	0	1	0	3833	1130	39	2	1920	2	CPT1C	19	50214114	Splice_Site	SNP	G	TCGA-HC-A48F-01A-11D-A257-08		50214114	8914869	22	11156											
SLA2	84174	broad.mit.edu	37	chr20	35261966	35261966	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatgggagactttggccacGtggacgctggggatgttata	8	10	15	8	2	0	1	0	0	0	1	0	4	0	3	2	5	0	2	2	5	2	3			TCGA-HC-A48F-01A-11D-A257-08	TCGA-HC-A48F-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7030b035-d4d9-42fc-ba42-79f3f9d30308	609e8c56-485a-4a1d-aa5d-ab4781c39cc7	g.chr20:35261966G>A	ENST00000262866.4	-	4	680	c.258C>T	c.(256-258)caC>caT	p.H86H	SLA2_ENST00000360672.2_Silent_p.H86H	NM_032214.3|NM_175077.2	NP_115590.1|NP_778252.1	Q9H6Q3	SLAP2_HUMAN	Src-like-adaptor 2	86	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				antigen receptor-mediated signaling pathway (GO:0050851)|B cell mediated immunity (GO:0019724)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of B cell activation (GO:0050869)|negative regulation of calcium-mediated signaling (GO:0050849)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of signal transduction (GO:0009967)|regulation of immune response (GO:0050776)|T cell activation (GO:0042110)	cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|endosome membrane (GO:0010008)|late endosome (GO:0005770)|plasma membrane (GO:0005886)	protein N-terminus binding (GO:0047485)|SH3/SH2 adaptor activity (GO:0005070)			endometrium(1)|lung(2)|skin(2)	5	Breast(12;0.114)	Myeloproliferative disorder(115;0.00878)				CTTTGGCCACGTGGACGCTGG	0.587																																					Ovarian(59;720 1165 26994 46188 51693)	ENST00000262866.4																			0				endometrium(1)|lung(2)|skin(2)	5						c.(256-258)caC>caT		Src-like-adaptor 2							131	111	118					20																	35261966		2203	4300	6503	SO:0001819	synonymous_variant	84174				antigen receptor-mediated signaling pathway|B cell mediated immunity|intracellular receptor mediated signaling pathway|negative regulation of B cell activation|negative regulation of calcium-mediated signaling|negative regulation of transcription from RNA polymerase II promoter|T cell activation	cytoplasmic membrane-bounded vesicle|endosome membrane|plasma membrane	protein N-terminus binding|SH3/SH2 adaptor activity	g.chr20:35261966G>A	AF326353	CCDS13282.1, CCDS13283.1	20q11.23	2013-02-14			ENSG00000101082	ENSG00000101082		"SH2 domain containing"	17329	protein-coding gene	gene with protein product		606577		C20orf156		11696592	Standard	NM_032214		Approved	FLJ21992, SLAP-2	uc002xfv.3	Q9H6Q3	OTTHUMG00000032393	ENST00000262866.4:c.258C>T	20.37:g.35261966G>A						SLA2_ENST00000360672.2_Silent_p.H86H	p.H86H	NM_032214.3|NM_175077.2	NP_115590.1|NP_778252.1	Q9H6Q3	SLAP2_HUMAN			4	680	-	Breast(12;0.114)	Myeloproliferative disorder(115;0.00878)	86			SH3.		A8K648|E1P5U1|E1P5U2|Q5TH27|Q5TH28|Q8WY18|Q96QI4|Q9H135	Silent	SNP	ENST00000262866.4	37	c.258C>T	CCDS13282.1																																																																																				0.587	SLA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079037.2	NM_175077		38	44	0	0	0	1	0	38	44					A	35261966	G	A	35261966	2	1	239	1	0	0	0	0	0	0	0	1	14364	1136	40	1		1	SLA2	20	35261966	Silent	SNP	G	TCGA-HC-A48F-01A-11D-A257-08		35261966	27763554	23	11157											
C20orf117	140710	broad.mit.edu	37	chr20	35443639	35443639	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgttccttgacagagcaccCgaggactgcatctgccttcc	7	10	9	15	1	1	2	0	1	1	1	3	4	3	3	4	1	3	3	4	1	0	3			TCGA-HC-A48F-01A-11D-A257-08	TCGA-HC-A48F-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7030b035-d4d9-42fc-ba42-79f3f9d30308	609e8c56-485a-4a1d-aa5d-ab4781c39cc7	g.chr20:35443639C>T	ENST00000357779.3	-	5	1818	c.1492G>A	c.(1492-1494)Ggg>Agg	p.G498R	SOGA1_ENST00000237536.4_Missense_Mutation_p.G736R|SOGA1_ENST00000456801.2_Missense_Mutation_p.G339R|SOGA1_ENST00000279034.6_Missense_Mutation_p.G498R			O94964	SOGA1_HUMAN	suppressor of glucose, autophagy associated 1	498					insulin receptor signaling pathway (GO:0008286)|negative regulation of gluconeogenesis (GO:0045721)|regulation of autophagy (GO:0010506)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)		p.G736R(3)|p.G498R(1)		endometrium(5)|kidney(1)|lung(21)|urinary_tract(1)	28						ACAGAGCACCCGAGGACTGCA	0.607																																						ENST00000237536.4																			4	Substitution - Missense(4)	p.G736R(3)|p.G498R(1)	lung(4)	endometrium(5)|kidney(1)|lung(21)|urinary_tract(1)	28						c.(2206-2208)Ggg>Agg		suppressor of glucose, autophagy associated 1							73	84	80					20																	35443639		2188	4284	6472	SO:0001583	missense	140710							g.chr20:35443639C>T	AK126630	CCDS46598.1, CCDS54459.1	20q11.23	2012-03-01	2012-02-27	2012-02-27	ENSG00000149639	ENSG00000149639			16111	protein-coding gene	gene with protein product	"suppressor of glucose by autophagy", "suppressor of glucose from autophagy"		"chromosome 20 open reading frame 117", "KIAA0889"	C20orf117, KIAA0889		20813965	Standard	NM_080627		Approved	dJ132F21.1, FLJ44670, SOGA	uc021wcx.1	O94964	OTTHUMG00000032395	ENST00000357779.3:c.1492G>A	20.37:g.35443639C>T	ENSP00000350424:p.Gly498Arg					SOGA1_ENST00000456801.2_Missense_Mutation_p.G339R|SOGA1_ENST00000357779.3_Missense_Mutation_p.G498R|SOGA1_ENST00000279034.5_Missense_Mutation_p.G498R	p.G736R	NM_080627.2	NP_542194.2	O94964	K0889_HUMAN			5	2547	-			498					A6NK10|Q14DB2|Q5JW51|Q6ZTG8	Missense_Mutation	SNP	ENST00000357779.3	37	c.2206G>A		.	.	.	.	.	.	.	.	.	.	C	11.29	1.596032	0.28445	.	.	ENSG00000149639	ENST00000237536;ENST00000279034;ENST00000456801;ENST00000357779	T;T;T;T	0.18174	2.24;2.23;2.24;2.25	5.2	5.2	0.72013	.	0.377810	0.27686	N	0.018261	T	0.39091	0.1065	M	0.63843	1.955	0.49389	D	0.999784	D	0.89917	1.0	D	0.72982	0.979	T	0.01814	-1.1268	10	0.30078	T	0.28	-44.4907	17.6614	0.88193	0.0:1.0:0.0:0.0	.	498	O94964-4	.	R	736;498;339;498	ENSP00000237536:G736R;ENSP00000279034:G498R;ENSP00000413886:G339R;ENSP00000350424:G498R	ENSP00000237536:G736R	G	-	1	0	KIAA0889	34877053	0.000000	0.05858	0.050000	0.19076	0.015000	0.08874	0.866000	0.27954	2.706000	0.92434	0.561000	0.74099	GGG		0.607	SOGA1-201	KNOWN	basic	protein_coding	protein_coding		NM_199181		16	95	0	0	0	1	0	16	95					T	35443639	C	T	35443639	3	4	239	1	0	0	0	0	1	0	0	0	2083	652	23	2	2885	2	C20orf117	20	35443639	Missense_Mutation	SNP	C	TCGA-HC-A48F-01A-11D-A257-08	181673	35443639	27581881	24	11158											
CDH4	1002	broad.mit.edu	37	chr20	60485631	60485631	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcagcgtccgcacagaccccGtaaccaacgagggcatggtc	10	5	11	15	4	1	1	1	0	0	1	3	2	2	1	4	2	3	3	4	2	2	1	rs143730774	byFrequency	TCGA-HC-A48F-01A-11D-A257-08	TCGA-HC-A48F-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7030b035-d4d9-42fc-ba42-79f3f9d30308	609e8c56-485a-4a1d-aa5d-ab4781c39cc7	g.chr20:60485631G>A	ENST00000360469.5	+	9	1430	c.1342G>A	c.(1342-1344)Gta>Ata	p.V448I	CDH4_ENST00000543233.1_Missense_Mutation_p.V374I	NM_001794.3	NP_001785.2	P55283	CADH4_HUMAN	cadherin 4, type 1, R-cadherin (retinal)	448	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74			BRCA - Breast invasive adenocarcinoma(19;2.36e-08)			CACAGACCCCGTAACCAACGA	0.597													G|||	2	0.000399361	0	0	5008	,	,		20362	0		0	False		,,,				2504	0.002					ENST00000360469.5																			0				NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74						c.(1342-1344)Gta>Ata		cadherin 4, type 1, R-cadherin (retinal)		G	ILE/VAL	0,4406		0,0,2203	108	80	90		1342	1.6	0.2	20	dbSNP_134	90	1,8599	1.2+/-3.3	0,1,4299	no	missense	CDH4	NM_001794.2	29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	448/917	60485631	1,13005	2203	4300	6503	SO:0001583	missense	1002				adherens junction organization|cell junction assembly		calcium ion binding	g.chr20:60485631G>A	L34059	CCDS13488.1, CCDS58784.1	20q13.3	2010-01-26			ENSG00000179242	ENSG00000179242		"Cadherins / Major cadherins"	1763	protein-coding gene	gene with protein product	"R-Cadherin"	603006				10191097, 10516427	Standard	NM_001794		Approved		uc002ybn.2	P55283	OTTHUMG00000032890	ENST00000360469.5:c.1342G>A	20.37:g.60485631G>A	ENSP00000353656:p.Val448Ile					CDH4_ENST00000543233.1_Missense_Mutation_p.V374I	p.V448I	NM_001794.3	NP_001785.2	P55283	CADH4_HUMAN	BRCA - Breast invasive adenocarcinoma(19;2.36e-08)		9	1430	+			448			Cadherin 3.		B3KWB8|G3V1P8|Q2M208|Q5VZ44|Q9BZ05	Missense_Mutation	SNP	ENST00000360469.5	37	c.1342G>A	CCDS13488.1	.	.	.	.	.	.	.	.	.	.	g	6.123	0.390907	0.11581	0.0	1.16E-4	ENSG00000179242	ENST00000360469;ENST00000536643;ENST00000543233	T;T	0.37915	1.17;1.17	4.66	1.57	0.23409	Cadherin (4);Cadherin-like (1);	0.317314	0.32868	N	0.005558	T	0.24736	0.0600	L	0.38692	1.165	0.09310	N	1	B	0.12630	0.006	B	0.15484	0.013	T	0.18178	-1.0345	9	.	.	.	.	9.6192	0.39710	0.2917:0.0:0.7083:0.0	.	448	P55283	CADH4_HUMAN	I	448;356;374	ENSP00000353656:V448I;ENSP00000443301:V374I	.	V	+	1	0	CDH4	59919026	0.000000	0.05858	0.211000	0.23655	0.092000	0.18411	0.111000	0.15458	0.416000	0.25844	0.556000	0.70494	GTA		0.597	CDH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079965.2	NM_001794		20	33	0	0	0	1	0	20	33					A	60485631	G	A	60485631	3	1	239	1	0	0	0	0	1	0	0	0	3112	1145	40	1	1376	1	CDH4	20	60485631	Missense_Mutation	SNP	G	TCGA-HC-A48F-01A-11D-A257-08	25041992	60485631	2539889	25	11159											
PI4KA	5297	broad.mit.edu	37	chr22	21173958	21173958	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctggacacactgctggtttTcctcttcagggtaccctcct	5	13	9	14	0	2	0	1	0	1	0	4	1	4	1	3	3	2	4	3	3	1	4			TCGA-HC-A48F-01A-11D-A257-08	TCGA-HC-A48F-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7030b035-d4d9-42fc-ba42-79f3f9d30308	609e8c56-485a-4a1d-aa5d-ab4781c39cc7	g.chr22:21173958T>C	ENST00000572273.1	-	6	816	c.586A>G	c.(586-588)Aaa>Gaa	p.K196E	PI4KA_ENST00000255882.6_Missense_Mutation_p.K254E			P42356	PI4KA_HUMAN	phosphatidylinositol 4-kinase, catalytic, alpha	196					phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi-associated vesicle membrane (GO:0030660)|membrane (GO:0016020)|plasma membrane (GO:0005886)	1-phosphatidylinositol 4-kinase activity (GO:0004430)|ATP binding (GO:0005524)			breast(3)|endometrium(8)|kidney(9)|large_intestine(19)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|salivary_gland(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	79	all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)			CTGCTGGTTTTCCTCTTCAGG	0.542																																					GBM(136;1332 1831 3115 23601 50806)	ENST00000255882.6																			0				breast(3)|endometrium(8)|kidney(9)|large_intestine(19)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|salivary_gland(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	79						c.(760-762)Aaa>Gaa		phosphatidylinositol 4-kinase, catalytic, alpha							98	91	94					22																	21173958		2203	4300	6503	SO:0001583	missense	5297				phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|synaptic transmission	Golgi-associated vesicle	1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding	g.chr22:21173958T>C	L36151	CCDS33603.1, CCDS33603.2	22q11.21	2011-05-25	2007-08-14	2007-08-02	ENSG00000241973	ENSG00000241973			8983	protein-coding gene	gene with protein product		600286		PIK4CA		7961848, 8662589	Standard	NM_002650		Approved	PI4K-ALPHA, pi4K230	uc002zsz.5	P42356	OTTHUMG00000167440	ENST00000572273.1:c.586A>G	22.37:g.21173958T>C	ENSP00000458238:p.Lys196Glu					PI4KA_ENST00000572273.1_Missense_Mutation_p.K196E	p.K254E	NM_058004.3	NP_477352.3	P42356	PI4KA_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)		6	846	-	all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	196					Q7Z625|Q9UPG2	Missense_Mutation	SNP	ENST00000572273.1	37	c.760A>G		.	.	.	.	.	.	.	.	.	.	T	12.67	2.008123	0.35415	.	.	ENSG00000241973	ENST00000255882	.	.	.	4.74	4.74	0.60224	.	0.144428	0.64402	D	0.000008	T	0.47801	0.1465	L	0.51422	1.61	0.80722	D	1	B;B	0.32467	0.372;0.085	B;B	0.27796	0.083;0.016	T	0.43458	-0.9390	9	0.12766	T	0.61	-25.5036	14.6953	0.69118	0.0:0.0:0.0:1.0	.	254;196	D3DX33;P42356	.;PI4KA_HUMAN	E	196	.	ENSP00000255882:K196E	K	-	1	0	PI4KA	19503958	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	2.787000	0.47798	2.121000	0.65114	0.455000	0.32223	AAA		0.542	PI4KA-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_058004		53	55	0	0	0	1	0	53	55					C	21173958	T	C	21173958	3	2	239	1	0	0	0	0	1	0	0	0	11873	1792	62	4	5748	4	PI4KA	22	21173958	Missense_Mutation	SNP	T	TCGA-HC-A48F-01A-11D-A257-08		21173958	30130608	26	11160											
APOL5	80831	broad.mit.edu	37	chr22	36123054	36123054	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atgagcagcttcctgcagagCtggaagcacctggaggatgg	10	7	15	9	0	0	2	0	1	0	1	1	5	1	5	2	4	5	5	2	4	1	1			TCGA-HC-A48F-01A-11D-A257-08	TCGA-HC-A48F-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7030b035-d4d9-42fc-ba42-79f3f9d30308	609e8c56-485a-4a1d-aa5d-ab4781c39cc7	g.chr22:36123054C>T	ENST00000249044.2	+	3	939	c.939C>T	c.(937-939)agC>agT	p.S313S		NM_030642.1	NP_085145.1	Q9BWW9	APOL5_HUMAN	apolipoprotein L, 5	313					lipid metabolic process (GO:0006629)|lipid transport (GO:0006869)|lipoprotein metabolic process (GO:0042157)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)	high-density lipoprotein particle binding (GO:0008035)|lipid binding (GO:0008289)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|skin(2)|urinary_tract(1)	19						TCCTGCAGAGCTGGAAGCACC	0.582																																						ENST00000249044.2																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|skin(2)|urinary_tract(1)	19						c.(937-939)agC>agT		apolipoprotein L, 5							56	56	56					22																	36123054		2203	4300	6503	SO:0001819	synonymous_variant	80831				lipid metabolic process|lipid transport|lipoprotein metabolic process	cytoplasm|extracellular region	high-density lipoprotein particle binding|lipid binding|protein binding	g.chr22:36123054C>T	AY014878	CCDS13920.1	22q12.3	2013-01-24			ENSG00000128313	ENSG00000128313		"Apolipoproteins"	14869	protein-coding gene	gene with protein product		607255				11374903	Standard	NM_030642		Approved	APOLV	uc003aof.3	Q9BWW9	OTTHUMG00000150588	ENST00000249044.2:c.939C>T	22.37:g.36123054C>T							p.S313S	NM_030642.1	NP_085145.1	Q9BWW9	APOL5_HUMAN			3	939	+			313					Q5TFL9|Q9UGW5	Silent	SNP	ENST00000249044.2	37	c.939C>T	CCDS13920.1																																																																																				0.582	APOL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318979.1	NM_030642		32	57	0	0	0	1	0	32	57					T	36123054	C	T	36123054	2	4	239	1	0	0	0	0	0	0	0	1	809	796	28	3		3	APOL5	22	36123054	Silent	SNP	C	TCGA-HC-A48F-01A-11D-A257-08	14949096	36123054	15181512	27	11161											
ZXDB	158586	broad.mit.edu	37	chrX	57618726	57618728	+	In_Frame_Del	DEL	GCG	GCG	-																															gccgaggaccgatcaacctaGcggcggcggcggcggcggcg																										TCGA-HC-A48F-01A-11D-A257-08	TCGA-HC-A48F-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7030b035-d4d9-42fc-ba42-79f3f9d30308	609e8c56-485a-4a1d-aa5d-ab4781c39cc7	g.chrX:57618726_57618728delGCG	ENST00000374888.1	+	1	458_460	c.245_247delGCG	c.(244-249)agcggc>agc	p.G89del		NM_007157.3	NP_009088.1	P98169	ZXDB_HUMAN	zinc finger, X-linked, duplicated B	89	Poly-Gly.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)	p.G89delG(2)		NS(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(2)|skin(6)	27						GATCAACCTAgcggcggcggcgg	0.759																																						ENST00000374888.1																			2	Deletion - In frame(2)	p.G89delG(2)	prostate(1)|central_nervous_system(1)	NS(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(2)|skin(6)	27						c.(244-249)agc>a		zinc finger, X-linked, duplicated B																																				SO:0001651	inframe_deletion	158586				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	g.chrX:57618726_57618728delGCG	L14788	CCDS35313.1	Xp11.1	2013-01-08			ENSG00000198455	ENSG00000198455		"Zinc fingers, C2H2-type"	13199	protein-coding gene	gene with protein product		300236				8268913	Standard	NM_007157		Approved	ZNF905	uc004dvd.3	P98169	OTTHUMG00000021685	ENST00000374888.1:c.245_247delGCG	X.37:g.57618735_57618737delGCG	ENSP00000364023:p.Gly89del						p.SG82del	NM_007157.3	NP_009088.1	P98169	ZXDB_HUMAN			1	458_460	+			82					A8K151|Q9UBB3	In_Frame_Del	DEL	ENST00000374888.1	37	c.245_247delGCG	CCDS35313.1																																																																																				0.759	ZXDB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056922.1	NM_007157		4	7						4	7	---	---	---	---	-	57618728	GCG	-	57618726	7	5	239	1	0	1	0	1	0	0	0	0	18248	971	34	0	247	0	ZXDB	23	57618726	In_Frame_Del	DEL	GCG	TCGA-HC-A48F-01A-11D-A257-08		57618726	97651834	28	11162											
VPS13D	55187	broad.mit.edu	37	chr1	12374350	12374350	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgctaagaacagcagcaccAcccaagggtccattcagatt	13	6	8	14	1	1	2	1	0	0	2	2	2	2	2	4	1	3	3	4	1	3	3			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr1:12374350A>C	ENST00000358136.3	+	30	7244	c.7114A>C	c.(7114-7116)Acc>Ccc	p.T2372P	VPS13D_ENST00000356315.4_Missense_Mutation_p.T2372P	NM_015378.2	NP_056193.2			vacuolar protein sorting 13 homolog D (S. cerevisiae)											NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		CAGCAGCACCACCCAAGGGTC	0.502																																						ENST00000358136.3																			0				NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130						c.(7114-7116)Acc>Ccc		vacuolar protein sorting 13 homolog D (S. cerevisiae)							136	112	120					1																	12374350		2203	4300	6503	SO:0001583	missense	55187				protein localization			g.chr1:12374350A>C	AJ608774	CCDS30588.1, CCDS30589.1	1p36.21	2008-02-05	2006-04-04		ENSG00000048707	ENSG00000048707			23595	protein-coding gene	gene with protein product		608877	"vacuolar protein sorting 13D (yeast)"				Standard	NM_015378		Approved	FLJ10619, KIAA0453	uc001atv.3	Q5THJ4	OTTHUMG00000013155	ENST00000358136.3:c.7114A>C	1.37:g.12374350A>C	ENSP00000350854:p.Thr2372Pro					VPS13D_ENST00000356315.4_Missense_Mutation_p.T2372P	p.T2372P	NM_015378.2	NP_056193.2	Q5THJ4	VP13D_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)	30	7244	+	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)	2372						Missense_Mutation	SNP	ENST00000358136.3	37	c.7114A>C	CCDS30588.1	.	.	.	.	.	.	.	.	.	.	A	3.867	-0.028642	0.07589	.	.	ENSG00000048707	ENST00000356315;ENST00000358136	T;T	0.42131	0.98;0.98	5.32	-5.17	0.02849	.	0.748320	0.11458	N	0.562031	T	0.12646	0.0307	N	0.03608	-0.345	0.25270	N	0.989529	B;B;B	0.10296	0.0;0.002;0.003	B;B;B	0.10450	0.0;0.005;0.002	T	0.21484	-1.0244	9	.	.	.	.	1.6762	0.02822	0.3239:0.1141:0.3401:0.2218	.	279;2372;2372	B1AJZ2;Q5THJ4-2;Q5THJ4	.;.;VP13D_HUMAN	P	2372	ENSP00000348666:T2372P;ENSP00000350854:T2372P	.	T	+	1	0	VPS13D	12296937	0.000000	0.05858	0.002000	0.10522	0.028000	0.11728	-0.640000	0.05440	-1.065000	0.03168	-0.375000	0.07067	ACC		0.502	VPS13D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000036897.2	NM_015378		3	12	0	0	0	1	0	3	12					C	12374350	A	C	12374350	3	2	240	1	0	0	0	0	1	0	0	0	17189	159	6	5	7228	5	VPS13D	1	12374350	Missense_Mutation	SNP	A	TCGA-HC-A4ZV-01A-11D-A26M-08		12374350	236876271	1	11163											
PADI1	29943	broad.mit.edu	37	chr1	17570695	17570695	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccactgtggcaccaacgtgcGcaggaagccctttcccttca	8	8	9	16	2	1	0	1	0	0	0	2	1	2	1	4	2	3	2	4	2	2	2	rs367912075		TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr1:17570695G>A	ENST00000375471.4	+	16	2041	c.1949G>A	c.(1948-1950)cGc>cAc	p.R650H	PADI1_ENST00000537499.1_Missense_Mutation_p.R207H|PADI1_ENST00000536552.1_Missense_Mutation_p.R121H|PADI1_ENST00000413717.2_Missense_Mutation_p.R165H|PADI1_ENST00000460293.1_3'UTR	NM_013358.2	NP_037490.2	Q9ULC6	PADI1_HUMAN	peptidyl arginine deiminase, type I	650					protein citrullination (GO:0018101)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|protein-arginine deiminase activity (GO:0004668)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	28		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00054)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00522)|BRCA - Breast invasive adenocarcinoma(304;1.3e-05)|COAD - Colon adenocarcinoma(227;1.31e-05)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(196;0.0069)|READ - Rectum adenocarcinoma(331;0.0681)|Lung(427;0.197)	L-Citrulline(DB00155)	ACCAACGTGCGCAGGAAGCCC	0.607																																					Esophageal Squamous(80;414 1257 4580 27746 50832)	ENST00000375471.4																			0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	28						c.(1948-1950)cGc>cAc		peptidyl arginine deiminase, type I	L-Citrulline(DB00155)						93	88	90					1																	17570695		2203	4300	6503	SO:0001583	missense	29943				peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity	g.chr1:17570695G>A	AB033768	CCDS178.1	1p36.13	2008-07-18			ENSG00000142623	ENSG00000142623	3.5.3.15	"Peptidyl arginine deiminases"	18367	protein-coding gene	gene with protein product	"peptidylarginine deiminase type I", "protein-arginine deiminase type-1", "hPAD-colony 10"	607934				12416996	Standard	NM_013358		Approved	HPAD10, PDI1, PDI, PAD1	uc001bah.1	Q9ULC6	OTTHUMG00000002294	ENST00000375471.4:c.1949G>A	1.37:g.17570695G>A	ENSP00000364620:p.Arg650His					PADI1_ENST00000537499.1_Missense_Mutation_p.R207H|PADI1_ENST00000536552.1_Missense_Mutation_p.R121H|PADI1_ENST00000460293.1_3'UTR|PADI1_ENST00000413717.2_Missense_Mutation_p.R165H	p.R650H	NM_013358.2	NP_037490.2	Q9ULC6	PADI1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00522)|BRCA - Breast invasive adenocarcinoma(304;1.3e-05)|COAD - Colon adenocarcinoma(227;1.31e-05)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(196;0.0069)|READ - Rectum adenocarcinoma(331;0.0681)|Lung(427;0.197)	16	2041	+		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00054)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)	650					A1L4K6|Q70SX6	Missense_Mutation	SNP	ENST00000375471.4	37	c.1949G>A	CCDS178.1	.	.	.	.	.	.	.	.	.	.	G	19.39	3.818324	0.71028	.	.	ENSG00000142623	ENST00000375471;ENST00000537499;ENST00000413717;ENST00000536552	T;T;T;T	0.34667	1.35;1.35;1.35;1.35	5.19	2.25	0.28309	Protein-arginine deiminase, C-terminal (1);	0.123736	0.56097	D	0.000028	T	0.56673	0.2001	M	0.82823	2.61	0.41741	D	0.989618	P;D	0.89917	0.757;1.0	B;D	0.78314	0.219;0.991	T	0.53251	-0.8465	10	0.40728	T	0.16	-18.3421	8.1783	0.31296	0.0747:0.0:0.6458:0.2795	.	165;650	B4DPX6;Q9ULC6	.;PADI1_HUMAN	H	650;207;165;121	ENSP00000364620:R650H;ENSP00000444032:R207H;ENSP00000396697:R165H;ENSP00000444833:R121H	ENSP00000364620:R650H	R	+	2	0	PADI1	17443282	1.000000	0.71417	0.994000	0.49952	0.952000	0.60782	1.973000	0.40550	0.193000	0.20303	-0.314000	0.08810	CGC		0.607	PADI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006621.1	NM_013358		15	32	0	0	0	1	0	15	32					A	17570695	G	A	17570695	3	1	240	1	0	0	0	0	1	0	0	0	11377	1087	38	1	2011	1	PADI1	1	17570695	Missense_Mutation	SNP	G	TCGA-HC-A4ZV-01A-11D-A26M-08	5196345	17570695	231679926	2	11164											
PADI4	23569	broad.mit.edu	37	chr1	17668541	17668541	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aacatggacttctacgtggaGgccctcgctttcccggacac	8	9	10	14	3	1	0	0	0	1	0	3	3	2	3	2	4	2	1	2	4	2	3			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr1:17668541G>C	ENST00000375448.4	+	7	782	c.756G>C	c.(754-756)gaG>gaC	p.E252D	AC004824.2_ENST00000602074.1_Intron	NM_012387.2	NP_036519.2	Q9UM07	PADI4_HUMAN	peptidyl arginine deiminase, type IV	252					cellular protein modification process (GO:0006464)|chromatin modification (GO:0016568)|chromatin remodeling (GO:0006338)|histone citrullination (GO:0036414)|histone H3-R26 citrullination (GO:0036413)|innate immune response (GO:0045087)|nucleosome assembly (GO:0006334)|protein citrullination (GO:0018101)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	arginine deiminase activity (GO:0016990)|calcium ion binding (GO:0005509)|protein-arginine deiminase activity (GO:0004668)			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(2)|urinary_tract(3)	26		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000338)|Lung NSC(340;0.00042)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00537)|BRCA - Breast invasive adenocarcinoma(304;8.54e-06)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(64;0.000223)|KIRC - Kidney renal clear cell carcinoma(64;0.00313)|STAD - Stomach adenocarcinoma(196;0.00707)|READ - Rectum adenocarcinoma(331;0.0689)|Lung(427;0.199)	L-Citrulline(DB00155)	TCTACGTGGAGGCCCTCGCTT	0.602																																						ENST00000375448.4																			0				autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(2)|urinary_tract(3)	26						c.(754-756)gaG>gaC		peptidyl arginine deiminase, type IV	L-Citrulline(DB00155)						95	87	90					1																	17668541		2203	4300	6503	SO:0001583	missense	23569				chromatin modification|peptidyl-citrulline biosynthetic process from peptidyl-arginine|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calcium ion binding|protein-arginine deiminase activity	g.chr1:17668541G>C	AB017919	CCDS180.1	1p36.13	2014-06-06	2003-02-12		ENSG00000159339	ENSG00000159339	3.5.3.15	"Peptidyl arginine deiminases"	18368	protein-coding gene	gene with protein product		605347	"peptidyl arginine deiminase, type V"	PADI5		10488123	Standard	NM_012387		Approved	PAD, PDI5, PDI4	uc001baj.2	Q9UM07	OTTHUMG00000002371	ENST00000375448.4:c.756G>C	1.37:g.17668541G>C	ENSP00000364597:p.Glu252Asp					AC004824.2_ENST00000602074.1_Intron	p.E252D	NM_012387.2	NP_036519.2	Q9UM07	PADI4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00537)|BRCA - Breast invasive adenocarcinoma(304;8.54e-06)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(64;0.000223)|KIRC - Kidney renal clear cell carcinoma(64;0.00313)|STAD - Stomach adenocarcinoma(196;0.00707)|READ - Rectum adenocarcinoma(331;0.0689)|Lung(427;0.199)	7	782	+		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000338)|Lung NSC(340;0.00042)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)	252					A8K392|B2RBW0|Q5VTZ8|Q70SX4	Missense_Mutation	SNP	ENST00000375448.4	37	c.756G>C	CCDS180.1	.	.	.	.	.	.	.	.	.	.	g	16.29	3.080329	0.55753	.	.	ENSG00000159339	ENST00000375448	T	0.33216	1.42	4.63	2.67	0.31697	Protein-arginine deiminase (PAD), central domain (2);	0.056345	0.64402	D	0.000001	T	0.53769	0.1817	M	0.88105	2.93	0.32296	N	0.565627	D;D	0.71674	0.998;0.998	D;D	0.72075	0.976;0.976	T	0.61476	-0.7055	10	0.34782	T	0.22	-45.7269	7.1549	0.25632	0.2297:0.0:0.7703:0.0	.	252;252	A8K392;Q9UM07	.;PADI4_HUMAN	D	252	ENSP00000364597:E252D	ENSP00000364597:E252D	E	+	3	2	PADI4	17541128	1.000000	0.71417	1.000000	0.80357	0.603000	0.37013	1.162000	0.31786	1.049000	0.40321	0.555000	0.69702	GAG		0.602	PADI4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006799.1	NM_012387		25	39	0	0	0	1	0	25	39					C	17668541	G	C	17668541	3	2	240	1	0	0	0	0	1	0	0	0	11380	991	35	5	782	5	PADI4	1	17668541	Missense_Mutation	SNP	G	TCGA-HC-A4ZV-01A-11D-A26M-08	97846	17668541	231582080	3	11165											
MRTO4	51154	broad.mit.edu	37	chr1	19584333	19584333	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctcttttcccttaggtggttCacgaaatacacagaaatgga	12	12	8	9	1	2	1	1	0	1	1	3	3	3	2	1	3	1	1	1	3	4	5			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr1:19584333C>G	ENST00000330263.4	+	6	645	c.348C>G	c.(346-348)ttC>ttG	p.F116L		NM_016183.3	NP_057267.2	Q9UKD2	MRT4_HUMAN	mRNA turnover 4 homolog (S. cerevisiae)	116					ribosome biogenesis (GO:0042254)	nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(1)|large_intestine(1)|liver(2)|ovary(1)|pancreas(1)|stomach(1)	8		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00049)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.87e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|GBM - Glioblastoma multiforme(114;0.00301)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		TTAGGTGGTTCACGAAATACA	0.592																																					GBM(192;2418 3032 7540 48714)	ENST00000330263.4																			0				breast(1)|endometrium(1)|large_intestine(1)|liver(2)|ovary(1)|pancreas(1)|stomach(1)	8						c.(346-348)ttC>ttG		mRNA turnover 4 homolog (S. cerevisiae)							73	73	73					1																	19584333		2203	4300	6503	SO:0001583	missense	51154				ribosome biogenesis	nuclear membrane|nucleolus		g.chr1:19584333C>G	AK027569	CCDS191.1	1p36.13	2008-02-05	2006-12-21	2007-01-05	ENSG00000053372	ENSG00000053372			18477	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 33", "MRT4, mRNA turnover 4, homolog (S. cerevisiae)"	C1orf33			Standard	NM_016183		Approved	dJ657E11.4, MRT4	uc001bbs.3	Q9UKD2	OTTHUMG00000002496	ENST00000330263.4:c.348C>G	1.37:g.19584333C>G	ENSP00000364320:p.Phe116Leu						p.F116L	NM_016183.3	NP_057267.2	Q9UKD2	MRT4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.87e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|GBM - Glioblastoma multiforme(114;0.00301)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	6	645	+		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00049)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)	116					B3KNB3|Q5TG55|Q96SS6|Q9BPV9	Missense_Mutation	SNP	ENST00000330263.4	37	c.348C>G	CCDS191.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.123441	0.77436	.	.	ENSG00000053372	ENST00000330263	T	0.37058	1.22	5.92	5.01	0.66863	.	0.000000	0.85682	D	0.000000	T	0.46658	0.1404	M	0.77820	2.39	0.80722	D	1	P	0.49447	0.924	P	0.50754	0.649	T	0.44251	-0.9340	10	0.20519	T	0.43	-24.7315	10.2079	0.43124	0.0:0.848:0.0:0.152	.	116	Q9UKD2	MRT4_HUMAN	L	116	ENSP00000364320:F116L	ENSP00000364320:F116L	F	+	3	2	MRTO4	19456920	0.984000	0.35163	1.000000	0.80357	0.742000	0.42306	1.143000	0.31553	1.509000	0.48786	0.655000	0.94253	TTC		0.592	MRTO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007075.2	NM_016183		25	55	0	0	0	1	0	25	55					G	19584333	C	G	19584333	3	3	240	1	0	0	0	0	1	0	0	0	9852	825	29	5	370	5	MRTO4	1	19584333	Missense_Mutation	SNP	C	TCGA-HC-A4ZV-01A-11D-A26M-08	1915792	19584333	229666288	4	11166											
WASF2	10163	broad.mit.edu	37	chr1	27744831	27744831	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtattgtatgtttctaagaCaggcactgggagagagtttc	10	13	13	5	0	1	2	0	0	1	2	2	4	1	3	0	3	0	5	0	3	3	6	rs201619033		TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr1:27744831C>G	ENST00000430629.2	-	4	573	c.358G>C	c.(358-360)Gtc>Ctc	p.V120L	WASF2_ENST00000536657.1_Missense_Mutation_p.V120L	NM_001201404.1|NM_006990.3	NP_001188333.1|NP_008921.1	Q9Y6W5	WASF2_HUMAN	WAS protein family, member 2	120					actin cytoskeleton organization (GO:0030036)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|negative regulation of stress fiber assembly (GO:0051497)|positive regulation of lamellipodium assembly (GO:0010592)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|lamellipodium (GO:0030027)|SCAR complex (GO:0031209)	actin binding (GO:0003779)|protein complex binding (GO:0032403)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	18		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0446)|OV - Ovarian serous cystadenocarcinoma(117;2.46e-25)|Colorectal(126;1.7e-08)|COAD - Colon adenocarcinoma(152;2e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00139)|KIRC - Kidney renal clear cell carcinoma(1967;0.00204)|STAD - Stomach adenocarcinoma(196;0.00325)|READ - Rectum adenocarcinoma(331;0.0481)		GTTTCTAAGACAGGCACTGGG	0.458																																						ENST00000430629.2																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	18						c.(358-360)Gtc>Ctc		WAS protein family, member 2							121	122	122					1																	27744831		2203	4297	6500	SO:0001583	missense	10163				actin cytoskeleton organization|G-protein signaling, coupled to cAMP nucleotide second messenger	actin cytoskeleton|lamellipodium	actin binding	g.chr1:27744831C>G	AB026542	CCDS304.1, CCDS55582.1	1p36.11	2011-05-10			ENSG00000158195	ENSG00000158195			12733	protein-coding gene	gene with protein product		605875				10381382	Standard	NM_006990		Approved	WAVE2, SCAR2	uc001bof.2	Q9Y6W5	OTTHUMG00000003393	ENST00000430629.2:c.358G>C	1.37:g.27744831C>G	ENSP00000396211:p.Val120Leu					WASF2_ENST00000536657.1_Missense_Mutation_p.V120L	p.V120L	NM_001201404.1|NM_006990.3	NP_001188333.1|NP_008921.1	Q9Y6W5	WASF2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0446)|OV - Ovarian serous cystadenocarcinoma(117;2.46e-25)|Colorectal(126;1.7e-08)|COAD - Colon adenocarcinoma(152;2e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00139)|KIRC - Kidney renal clear cell carcinoma(1967;0.00204)|STAD - Stomach adenocarcinoma(196;0.00325)|READ - Rectum adenocarcinoma(331;0.0481)	4	573	-		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	120					B4DZN0|O60794|Q9UDY7	Missense_Mutation	SNP	ENST00000430629.2	37	c.358G>C	CCDS304.1	.	.	.	.	.	.	.	.	.	.	C	13.43	2.233846	0.39498	.	.	ENSG00000158195	ENST00000430629;ENST00000536657	T;T	0.67698	-0.28;1.26	5.37	4.46	0.54185	.	0.184155	0.47852	D	0.000201	T	0.46444	0.1393	N	0.16743	0.435	0.50813	D	0.99989	B;B	0.21452	0.0;0.056	B;B	0.17433	0.003;0.018	T	0.36939	-0.9727	10	0.07030	T	0.85	-3.5769	13.5076	0.61493	0.0:0.9244:0.0:0.0756	.	120;120	B4DZN0;Q9Y6W5	.;WASF2_HUMAN	L	120	ENSP00000396211:V120L;ENSP00000439883:V120L	ENSP00000396211:V120L	V	-	1	0	WASF2	27617418	0.984000	0.35163	0.993000	0.49108	0.998000	0.95712	1.763000	0.38461	1.272000	0.44329	0.655000	0.94253	GTC		0.458	WASF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009516.1	NM_006990		16	27	0	0	0	1	0	16	27					G	27744831	C	G	27744831	3	3	240	1	0	0	0	0	1	0	0	0	17250	478	17	5	1162	5	WASF2	1	27744831	Missense_Mutation	SNP	C	TCGA-HC-A4ZV-01A-11D-A26M-08	8160498	27744831	221505790	5	11167											
RRAGC	64121	broad.mit.edu	37	chr1	39325295	39325295	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgccggcgaggggcgtctcCtccgccccgtactgcaggga	4	6	15	16	5	1	0	0	0	1	0	3	2	2	1	5	4	3	2	5	4	1	1			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr1:39325295C>T	ENST00000373001.3	-	1	200	c.24G>A	c.(22-24)gaG>gaA	p.E8E	RP5-864K19.4_ENST00000456813.1_RNA|RP5-864K19.4_ENST00000433671.2_RNA	NM_022157.2	NP_071440.1			Ras-related GTP binding C											endometrium(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(1)	10	Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)				GGGGCGTCTCCTCCGCCCCGT	0.746																																						ENST00000373001.3																			0				endometrium(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(1)	10						c.(22-24)gaG>gaA		Ras-related GTP binding C							3	3	3					1																	39325295		1775	3618	5393	SO:0001819	synonymous_variant	64121				apoptosis|cell growth|cellular protein localization|cellular response to amino acid stimulus|positive regulation of TOR signaling cascade|RNA splicing|small GTPase mediated signal transduction|transcription, DNA-dependent	lysosome|nucleus	GDP binding|GTP binding|GTPase activity|magnesium ion binding|protein heterodimerization activity	g.chr1:39325295C>T	AF323609	CCDS430.1	1p34	2008-02-05			ENSG00000116954	ENSG00000116954			19902	protein-coding gene	gene with protein product		608267				11073942	Standard	NM_022157		Approved	GTR2, FLJ13311	uc001ccq.3	Q9HB90	OTTHUMG00000000490	ENST00000373001.3:c.24G>A	1.37:g.39325295C>T							p.E8E	NM_022157.2	NP_071440.1	Q9HB90	RRAGC_HUMAN			1	200	-	Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	8						Silent	SNP	ENST00000373001.3	37	c.24G>A	CCDS430.1																																																																																				0.746	RRAGC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001222.2	NM_022157		3	3	0	0	0	1	0	3	3					T	39325295	C	T	39325295	2	4	240	1	0	0	0	0	0	0	0	1	13674	680	24	3		3	RRAGC	1	39325295	Silent	SNP	C	TCGA-HC-A4ZV-01A-11D-A26M-08	11580464	39325295	209925326	6	11168											
KIAA0754	643314	broad.mit.edu	37	chr1	39877441	39877441	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggctgcatcccaggatgcaGaaaatttactcgtaattagt	12	12	9	8	1	0	1	0	0	0	1	2	2	1	2	1	2	3	4	1	2	5	4			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr1:39877441G>T	ENST00000530275.1	+	1	1291	c.1096G>T	c.(1096-1098)Gaa>Taa	p.E366*	MACF1_ENST00000289893.4_Intron|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000567887.1_Intron|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000564288.1_Intron|MACF1_ENST00000372915.3_Intron|MACF1_ENST00000545844.1_Intron	NM_015038.1	NP_055853.1	O94854	K0754_HUMAN	KIAA0754	366										central_nervous_system(1)|large_intestine(6)|skin(1)	8	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			CCAGGATGCAGAAAATTTACT	0.393																																						ENST00000530275.1																			0				central_nervous_system(1)|large_intestine(6)|skin(1)	8						c.(1096-1098)Gaa>Taa		KIAA0754							59	58	58					1																	39877441		1824	4083	5907	SO:0001587	stop_gained	643314							g.chr1:39877441G>T			1p34.2	2009-07-09				ENSG00000255103			29111	protein-coding gene	gene with protein product						9872452	Standard	NM_015038		Approved		uc009vvt.1	O94854		ENST00000530275.1:c.1096G>T	1.37:g.39877441G>T	ENSP00000431179:p.Glu366*					MACF1_ENST00000567887.1_Intron|MACF1_ENST00000289893.4_Intron|MACF1_ENST00000372915.3_Intron|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000564288.1_Intron|MACF1_ENST00000317713.7_Intron	p.E366*	NM_015038.1	NP_055853.1	O94854	K0754_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)		1	1291	+	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	366					E9PMC2|Q6ZSB2	Nonsense_Mutation	SNP	ENST00000530275.1	37	c.1096G>T		.	.	.	.	.	.	.	.	.	.	G	25.8	4.671803	0.88348	.	.	ENSG00000255103	ENST00000530275	.	.	.	5.14	5.14	0.70334	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	16.8066	0.85707	0.0:0.0:1.0:0.0	.	.	.	.	X	366	.	ENSP00000431179:E366X	E	+	1	0	RP4-562N20.1	39650028	0.998000	0.40836	1.000000	0.80357	0.084000	0.17831	3.649000	0.54417	2.398000	0.81561	0.655000	0.94253	GAA		0.393	KIAA0754-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000392100.1	NM_015038		10	17	1	0	1.58986e-06	1	1.7641e-06	10	17					T	39877441	G	T	39877441	4	4	240	1	0	0	0	0	0	1	0	0	8192	943	33	5	1506	5	KIAA0754	1	39877441	Nonsense_Mutation	SNP	G	TCGA-HC-A4ZV-01A-11D-A26M-08	552146	39877441	209373180	7	11169											
DMBX1	127343	broad.mit.edu	37	chr1	46976632	46976632	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gttcaagaaccgccgggccaAgttccggaagaagcagcgta	12	5	13	11	4	1	2	1	0	0	2	2	3	2	3	4	2	3	4	4	2	6	3			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr1:46976632A>C	ENST00000360032.3	+	3	373	c.359A>C	c.(358-360)aAg>aCg	p.K120T	DMBX1_ENST00000371956.4_Missense_Mutation_p.K125T	NM_172225.1	NP_757379.1			diencephalon/mesencephalon homeobox 1											endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	Acute lymphoblastic leukemia(166;0.155)					CGCCGGGCCAAGTTCCGGAAG	0.627																																						ENST00000371956.4																			0				endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						c.(373-375)aAg>aCg		diencephalon/mesencephalon homeobox 1							25	31	29					1																	46976632		2203	4300	6503	SO:0001583	missense	127343				brain development|developmental growth|negative regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr1:46976632A>C	AB037699	CCDS536.1	1p34.1	2011-06-20	2004-03-29	2004-03-30	ENSG00000197587	ENSG00000197587		"Homeoboxes / PRD class"	19026	protein-coding gene	gene with protein product		607410	"orthodenticle homolog 3 (Drosophila)"	OTX3			Standard	NM_147192		Approved	PAXB	uc001cpx.3	Q8NFW5	OTTHUMG00000007982	ENST00000360032.3:c.359A>C	1.37:g.46976632A>C	ENSP00000353132:p.Lys120Thr					DMBX1_ENST00000360032.3_Missense_Mutation_p.K120T	p.K125T	NM_147192.2	NP_671725.1	Q8NFW5	DMBX1_HUMAN			3	389	+	Acute lymphoblastic leukemia(166;0.155)		125			Interacts with OXT2 and is required for repressor activity (By similarity).			Missense_Mutation	SNP	ENST00000360032.3	37	c.374A>C	CCDS536.1	.	.	.	.	.	.	.	.	.	.	A	26.0	4.693719	0.88735	.	.	ENSG00000197587	ENST00000371956;ENST00000360032	D;D	0.97976	-4.64;-4.64	5.01	5.01	0.66863	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);Homeobox, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.99489	0.9818	H	0.99984	5.23	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.97277	0.9915	10	0.87932	D	0	.	13.9043	0.63823	1.0:0.0:0.0:0.0	.	125;120	Q8NFW5;Q8NFW5-2	DMBX1_HUMAN;.	T	125;120	ENSP00000361024:K125T;ENSP00000353132:K120T	ENSP00000353132:K120T	K	+	2	0	DMBX1	46749219	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.339000	0.96797	1.894000	0.54839	0.482000	0.46254	AAG		0.627	DMBX1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000021895.1			8	25	0	0	0	1	0	8	25					C	46976632	A	C	46976632	3	2	240	1	0	0	0	0	1	0	0	0	4578	72	3	5	384	5	DMBX1	1	46976632	Missense_Mutation	SNP	A	TCGA-HC-A4ZV-01A-11D-A26M-08	7099191	46976632	202273989	8	11170											
FOXD2	2306	broad.mit.edu	37	chr1	47904210	47904210	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgccctactcgtacatcgcgCtcatcaccatggccatcctg	7	9	7	18	4	2	0	2	0	0	0	5	0	3	0	4	1	2	2	4	1	2	2			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr1:47904210C>G	ENST00000334793.5	+	1	2522	c.403C>G	c.(403-405)Ctc>Gtc	p.L135V		NM_004474.3	NP_004465.3	O60548	FOXD2_HUMAN	forkhead box D2	135					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			lung(4)	4				READ - Rectum adenocarcinoma(2;0.0908)		GTACATCGCGCTCATCACCAT	0.716																																						ENST00000334793.5																			0				lung(4)	4						c.(403-405)Ctc>Gtc		forkhead box D2							38	44	42					1																	47904210		2203	4300	6503	SO:0001583	missense	2306				axon extension involved in axon guidance|cartilage development|dichotomous subdivision of terminal units involved in ureteric bud branching|embryo development|enteric nervous system development|iridophore differentiation|lateral line nerve glial cell development|melanocyte differentiation|neural crest cell migration|pattern specification process|peripheral nervous system development|positive regulation of BMP signaling pathway|positive regulation of kidney development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chr1:47904210C>G	AF042832	CCDS30708.1	1p34-p32	2008-02-05			ENSG00000186564	ENSG00000186564		"Forkhead boxes"	3803	protein-coding gene	gene with protein product		602211		FKHL17		9403061, 12621056	Standard	NM_004474		Approved	FREAC9	uc001crm.3	O60548	OTTHUMG00000007950	ENST00000334793.5:c.403C>G	1.37:g.47904210C>G	ENSP00000335493:p.Leu135Val						p.L135V	NM_004474.3	NP_004465.3	O60548	FOXD2_HUMAN		READ - Rectum adenocarcinoma(2;0.0908)	1	2522	+			135					Q5SVZ3	Missense_Mutation	SNP	ENST00000334793.5	37	c.403C>G	CCDS30708.1	.	.	.	.	.	.	.	.	.	.	C	19.27	3.794633	0.70452	.	.	ENSG00000186564	ENST00000334793	D	0.98060	-4.69	4.2	4.2	0.49525	Winged helix-turn-helix transcription repressor DNA-binding (1);Transcription factor, fork head (4);Transcription factor, fork head, conserved site (1);	0.000000	0.64402	U	0.000001	D	0.99254	0.9740	H	0.98333	4.205	0.58432	D	0.999996	D	0.89917	1.0	D	0.91635	0.999	D	0.98591	1.0654	10	0.87932	D	0	.	15.3129	0.74048	0.0:1.0:0.0:0.0	.	135	O60548	FOXD2_HUMAN	V	135	ENSP00000335493:L135V	ENSP00000335493:L135V	L	+	1	0	FOXD2	47676797	1.000000	0.71417	1.000000	0.80357	0.853000	0.48598	5.353000	0.66034	1.866000	0.54105	0.436000	0.28706	CTC		0.716	FOXD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021831.1	NM_004474		12	11	0	0	0	1	0	12	11					G	47904210	C	G	47904210	3	3	240	1	0	0	0	0	1	0	0	0	5997	797	28	5	405	5	FOXD2	1	47904210	Missense_Mutation	SNP	C	TCGA-HC-A4ZV-01A-11D-A26M-08	927578	47904210	201346411	9	11171											
MYSM1	114803	broad.mit.edu	37	chr1	59147849	59147849	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agtgtaatttctgagcttgaAagtgtttcatcttgcttttc	8	19	8	6	0	3	2	1	2	2	0	4	2	3	2	0	0	2	4	0	0	2	7			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr1:59147849A>T	ENST00000472487.1	-	8	906	c.867T>A	c.(865-867)ctT>ctA	p.L289L	MYSM1_ENST00000493821.1_5'UTR	NM_001085487.2	NP_001078956.1	Q5VVJ2	MYSM1_HUMAN	Myb-like, SWIRM and MPN domains 1	289					chromatin remodeling (GO:0006338)|monoubiquitinated histone H2A deubiquitination (GO:0035522)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone binding (GO:0042393)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|protein complex binding (GO:0032403)|transcription coactivator activity (GO:0003713)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_cancers(7;9.36e-06)					CTGAGCTTGAAAGTGTTTCAT	0.348																																						ENST00000472487.1																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						c.(865-867)ctT>ctA		Myb-like, SWIRM and MPN domains 1							165	156	159					1																	59147849		1831	4081	5912	SO:0001819	synonymous_variant	114803				histone deubiquitination|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromatin remodeling complex	DNA binding|histone binding|metal ion binding|metallopeptidase activity|transcription coactivator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr1:59147849A>T	AB067502	CCDS41343.1	1p32.1	2009-02-11	2009-02-11		ENSG00000162601	ENSG00000162601			29401	protein-coding gene	gene with protein product		612176				11572484, 17428495, 17707232	Standard	NM_001085487		Approved	KIAA1915	uc009wab.2	Q5VVJ2	OTTHUMG00000009533	ENST00000472487.1:c.867T>A	1.37:g.59147849A>T						MYSM1_ENST00000493821.1_5'UTR	p.L289L	NM_001085487.2	NP_001078956.1	Q5VVJ2	MYSM1_HUMAN			8	906	-	all_cancers(7;9.36e-06)		289					A8KA54|B3KX65|Q68DD3|Q6AI53|Q7Z3G8|Q96PX3	Silent	SNP	ENST00000472487.1	37	c.867T>A	CCDS41343.1																																																																																				0.348	MYSM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026343.2	XM_055481		30	21	0	0	0	1	0	30	21					T	59147849	A	T	59147849	2	4	240	1	0	0	0	0	0	0	0	1	10101	1	1	5		5	MYSM1	1	59147849	Silent	SNP	A	TCGA-HC-A4ZV-01A-11D-A26M-08	11243639	59147849	190102772	10	11172											
SYDE2	84144	broad.mit.edu	37	chr1	85643927	85643927	+	Frame_Shift_Del	DEL	G	G	-																															gttctttcttgactgctgccGaaccacataatcgatacagg																								rs200009798		TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr1:85643927delG	ENST00000341460.5	-	4	2622	c.2573delC	c.(2572-2574)tcgfs	p.S858fs		NM_032184.1	NP_115560.1	Q5VT97	SYDE2_HUMAN	synapse defective 1, Rho GTPase, homolog 2 (C. elegans)	858	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				activation of Rho GTPase activity (GO:0032862)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	Rho GTPase activator activity (GO:0005100)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)	20				all cancers(265;0.0126)|Epithelial(280;0.0336)		GACTGCTGCCGAACCACATAA	0.373																																						ENST00000341460.5																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)	20						c.(2572-2574)tgfs		synapse defective 1, Rho GTPase, homolog 2 (C. elegans)							63	56	58					1																	85643927		1826	4078	5904	SO:0001589	frameshift_variant	84144				activation of Rho GTPase activity|small GTPase mediated signal transduction	cytosol	Rho GTPase activator activity	g.chr1:85643927delG	AL834286	CCDS44169.1	1p22.3	2008-02-05		2005-08-09	ENSG00000097096	ENSG00000097096			25841	protein-coding gene	gene with protein product							Standard	NM_032184		Approved	FLJ13815	uc009wcm.3	Q5VT97	OTTHUMG00000009956	ENST00000341460.5:c.2573delC	1.37:g.85643927delG	ENSP00000340594:p.Ser858fs						p.S858fs	NM_032184.1	NP_115560.1	Q5VT97	SYDE2_HUMAN		all cancers(265;0.0126)|Epithelial(280;0.0336)	4	2622	-			858			Rho-GAP.		Q5VT96|Q8NDB8|Q9H8A6	Frame_Shift_Del	DEL	ENST00000341460.5	37	c.2573delC	CCDS44169.1																																																																																				0.373	SYDE2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127989.2			2	4						2	4	---	---	---	---	-	85643927	G	-	85643927	7	5	240	1	0	1	0	1	0	0	0	0	15433	1059	37	0	1027	0	SYDE2	1	85643927	Frame_Shift_Del	DEL	G	TCGA-HC-A4ZV-01A-11D-A26M-08	26496078	85643927	163606694	11	11173											
DPH5	51611	broad.mit.edu	37	chr1	101487277	101487277	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttatctgcttcttgttccacTtcttctctatcagcaacaac	8	17	3	13	0	5	0	1	0	4	0	7	0	6	0	1	0	4	3	1	0	4	7			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr1:101487277T>C	ENST00000370109.3	-	3	292	c.180A>G	c.(178-180)gaA>gaG	p.E60E	DPH5_ENST00000488176.1_Silent_p.E60E|DPH5_ENST00000342173.7_Silent_p.E60E|DPH5_ENST00000370105.3_5'UTR	NM_001077394.1|NM_001077395.1|NM_015958.2	NP_001070862.1|NP_001070863.1|NP_057042.2	Q9H2P9	DPH5_HUMAN	diphthamide biosynthesis 5	60					peptidyl-diphthamide biosynthetic process from peptidyl-histidine (GO:0017183)		diphthine synthase activity (GO:0004164)			endometrium(2)|large_intestine(1)|lung(4)	7		all_epithelial(167;3.1e-06)|all_lung(203;0.000414)|Lung NSC(277;0.000946)		Epithelial(280;0.0385)|all cancers(265;0.043)|COAD - Colon adenocarcinoma(174;0.151)|Colorectal(144;0.173)|Lung(183;0.198)		CTTGTTCCACTTCTTCTCTAT	0.368																																						ENST00000370109.3																			0				endometrium(2)|large_intestine(1)|lung(4)	7						c.(178-180)gaA>gaG		diphthamide biosynthesis 5							162	151	154					1																	101487277		1862	4113	5975	SO:0001819	synonymous_variant	51611				peptidyl-diphthamide biosynthetic process from peptidyl-histidine		diphthine synthase activity	g.chr1:101487277T>C	AF132964	CCDS41358.1, CCDS41359.1	1p21.2	2013-05-02	2013-05-02		ENSG00000117543	ENSG00000117543			24270	protein-coding gene	gene with protein product		611075	"DPH5 homolog (S. cerevisiae)"			15485916, 23486472	Standard	NM_015958		Approved	CGI-30	uc001dtt.2	Q9H2P9	OTTHUMG00000010829	ENST00000370109.3:c.180A>G	1.37:g.101487277T>C						DPH5_ENST00000488176.1_Silent_p.E60E|DPH5_ENST00000342173.7_Silent_p.E60E|DPH5_ENST00000370105.3_5'UTR	p.E60E	NM_001077394.1|NM_001077395.1|NM_015958.2	NP_001070862.1|NP_001070863.1|NP_057042.2	Q9H2P9	DPH5_HUMAN		Epithelial(280;0.0385)|all cancers(265;0.043)|COAD - Colon adenocarcinoma(174;0.151)|Colorectal(144;0.173)|Lung(183;0.198)	3	292	-		all_epithelial(167;3.1e-06)|all_lung(203;0.000414)|Lung NSC(277;0.000946)	60					A8JZY6|D3DT62|Q9P017|Q9P0I4|Q9Y319	Silent	SNP	ENST00000370109.3	37	c.180A>G	CCDS41358.1																																																																																				0.368	DPH5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000029881.1	NM_015958		11	16	0	0	0	1	0	11	16					C	101487277	T	C	101487277	2	2	240	1	0	0	0	0	0	0	0	1	4723	1606	56	4		4	DPH5	1	101487277	Silent	SNP	T	TCGA-HC-A4ZV-01A-11D-A26M-08	15843350	101487277	147763344	12	11174											
PSRC1	84722	broad.mit.edu	37	chr1	109824258	109824258	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	caccctcttcatgttggaggGcctctttccagatgtagccc	6	12	9	14	0	3	1	1	0	2	1	4	2	4	2	4	2	1	2	4	2	1	4			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr1:109824258G>A	ENST00000438534.2	-	4	640	c.502C>T	c.(502-504)Ccc>Tcc	p.P168S	PSRC1_ENST00000409267.1_Missense_Mutation_p.P168S|PSRC1_ENST00000369909.2_Missense_Mutation_p.P168S|PSRC1_ENST00000369907.3_Missense_Mutation_p.P168S|PSRC1_ENST00000369904.3_Missense_Mutation_p.P168S|PSRC1_ENST00000409138.2_Missense_Mutation_p.P168S|PSRC1_ENST00000369903.2_Missense_Mutation_p.P168S	NM_001005290.3	NP_001005290.1	Q6PGN9	PSRC1_HUMAN	proline/serine-rich coiled-coil 1	168	4 X 4 AA repeats of P-X-X-P.				microtubule bundle formation (GO:0001578)|mitotic metaphase plate congression (GO:0007080)|negative regulation of cell growth (GO:0030308)|positive regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045737)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of mitotic spindle organization (GO:0060236)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle (GO:0005819)	microtubule binding (GO:0008017)			endometrium(1)|large_intestine(1)|lung(2)|prostate(2)|skin(1)	7		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0286)|Lung(183;0.0658)|COAD - Colon adenocarcinoma(174;0.112)|Epithelial(280;0.188)|all cancers(265;0.213)		ATGTTGGAGGGCCTCTTTCCA	0.567																																						ENST00000438534.2																			0				endometrium(1)|large_intestine(1)|lung(2)|prostate(2)|skin(1)	7						c.(502-504)Ccc>Tcc		proline/serine-rich coiled-coil 1							75	76	76					1																	109824258		2203	4300	6503	SO:0001583	missense	84722				cell division|microtubule bundle formation|mitotic metaphase plate congression|negative regulation of cell growth|positive regulation of microtubule polymerization|positive regulation of transcription, DNA-dependent|regulation of mitotic spindle organization	cytosol|midbody|spindle pole	microtubule binding	g.chr1:109824258G>A		CCDS797.1, CCDS30791.1	1p13.3	2008-02-05			ENSG00000134222	ENSG00000134222			24472	protein-coding gene	gene with protein product	"differential display and activated by p53"	613126				12427559, 10618717	Standard	NM_001032291		Approved	DDA3	uc001dxd.3	Q6PGN9	OTTHUMG00000012000	ENST00000438534.2:c.502C>T	1.37:g.109824258G>A	ENSP00000413591:p.Pro168Ser					PSRC1_ENST00000369907.3_Missense_Mutation_p.P168S|PSRC1_ENST00000369909.2_Missense_Mutation_p.P168S|PSRC1_ENST00000369904.3_Missense_Mutation_p.P168S|PSRC1_ENST00000409267.1_Missense_Mutation_p.P168S|PSRC1_ENST00000409138.2_Missense_Mutation_p.P168S|PSRC1_ENST00000369903.2_Missense_Mutation_p.P168S	p.P168S	NM_001005290.3	NP_001005290.1	Q6PGN9	PSRC1_HUMAN		Colorectal(144;0.0286)|Lung(183;0.0658)|COAD - Colon adenocarcinoma(174;0.112)|Epithelial(280;0.188)|all cancers(265;0.213)	4	640	-		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)	168			4 X 4 AA repeats of P-X-X-P.		Q5T2Z3|Q6ZTI8|Q71MG3|Q9BV77	Missense_Mutation	SNP	ENST00000438534.2	37	c.502C>T		.	.	.	.	.	.	.	.	.	.	G	17.79	3.475279	0.63737	.	.	ENSG00000134222	ENST00000369904;ENST00000409267;ENST00000369907;ENST00000438534;ENST00000369909;ENST00000369903;ENST00000429031;ENST00000418914	T;T;T;T;T	0.52057	0.68;0.68;0.68;0.68;0.68	5.63	3.59	0.41128	.	0.436137	0.21467	N	0.074076	T	0.25005	0.0607	L	0.47716	1.5	0.30586	N	0.762027	B;P;B	0.36909	0.386;0.573;0.386	B;B;B	0.39217	0.178;0.294;0.178	T	0.11060	-1.0603	10	0.62326	D	0.03	-14.9046	8.2902	0.31952	0.0:0.1718:0.6502:0.178	.	168;168;168	Q6PGN9;Q6PGN9-3;Q6PGN9-2	PSRC1_HUMAN;.;.	S	168	ENSP00000386323:P168S;ENSP00000358923:P168S;ENSP00000413591:P168S;ENSP00000358925:P168S;ENSP00000358919:P168S	ENSP00000358919:P168S	P	-	1	0	PSRC1	109625781	0.997000	0.39634	0.798000	0.32154	0.905000	0.53344	1.899000	0.39818	1.324000	0.45282	0.561000	0.74099	CCC		0.567	PSRC1-202	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000335567.3	NM_032636		19	35	0	0	0	1	0	19	35					A	109824258	G	A	109824258	3	1	240	1	0	0	0	0	1	0	0	0	12719	1203	42	3	580	3	PSRC1	1	109824258	Missense_Mutation	SNP	G	TCGA-HC-A4ZV-01A-11D-A26M-08	8336981	109824258	139426363	13	11175											
KCND3	3752	broad.mit.edu	37	chr1	112524830	112524830	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgctggtgtgggggttctcGaaggcccgccacatggtctg	4	10	17	10	2	2	0	0	0	2	0	3	1	2	0	2	5	1	2	2	5	1	1	rs144600384	byFrequency	TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr1:112524830G>T	ENST00000315987.2	-	2	998	c.519C>A	c.(517-519)ttC>ttA	p.F173L	KCND3_ENST00000369697.1_Missense_Mutation_p.F173L|KCND3_ENST00000302127.4_Missense_Mutation_p.F173L	NM_004980.4	NP_004971.2	Q9UK17	KCND3_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 3	173					cell death (GO:0008219)|membrane repolarization (GO:0086009)|potassium ion export (GO:0071435)|potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|neuronal cell body (GO:0043025)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	A-type (transient outward) potassium channel activity (GO:0005250)|ion channel binding (GO:0044325)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	49		all_cancers(81;8.52e-06)|all_epithelial(167;5.65e-06)|all_lung(203;2.72e-05)|Lung NSC(69;4.56e-05)		all cancers(265;0.056)|Lung(183;0.0576)|Colorectal(144;0.1)|Epithelial(280;0.104)|COAD - Colon adenocarcinoma(174;0.222)|LUSC - Lung squamous cell carcinoma(189;0.231)	Amitriptyline(DB00321)|Dalfampridine(DB06637)|Disopyramide(DB00280)|Imipramine(DB00458)	GGGGGTTCTCGAAGGCCCGCC	0.617																																						ENST00000369697.1																			0				NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	49						c.(517-519)ttC>ttA		potassium voltage-gated channel, Shal-related subfamily, member 3							47	44	45					1																	112524830		2203	4300	6503	SO:0001583	missense	3752					sarcolemma|voltage-gated potassium channel complex	A-type (transient outward) potassium channel activity|metal ion binding	g.chr1:112524830G>T	AF048713	CCDS843.1, CCDS844.1	1p13.2	2014-09-17			ENSG00000171385	ENSG00000171385		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6239	protein-coding gene	gene with protein product		605411	"spinocerebellar ataxia 22", "spinocerebellar ataxia 19"	SCA22, SCA19		10942109, 16382104, 23280837	Standard	NM_172198		Approved	Kv4.3, KSHIVB	uc001ebu.1	Q9UK17	OTTHUMG00000011989	ENST00000315987.2:c.519C>A	1.37:g.112524830G>T	ENSP00000319591:p.Phe173Leu					KCND3_ENST00000315987.2_Missense_Mutation_p.F173L|KCND3_ENST00000302127.4_Missense_Mutation_p.F173L	p.F173L			Q9UK17	KCND3_HUMAN		all cancers(265;0.056)|Lung(183;0.0576)|Colorectal(144;0.1)|Epithelial(280;0.104)|COAD - Colon adenocarcinoma(174;0.222)|LUSC - Lung squamous cell carcinoma(189;0.231)	1	588	-		all_cancers(81;8.52e-06)|all_epithelial(167;5.65e-06)|all_lung(203;2.72e-05)|Lung NSC(69;4.56e-05)	173					O60576|O60577|Q14D71|Q5T0M0|Q9UH85|Q9UH86|Q9UK16	Missense_Mutation	SNP	ENST00000315987.2	37	c.519C>A	CCDS843.1	.	.	.	.	.	.	.	.	.	.	G	12.11	1.839401	0.32513	.	.	ENSG00000171385	ENST00000369697;ENST00000315987;ENST00000302127	D;D;D	0.96967	-4.17;-4.19;-4.17	5.51	2.15	0.27550	.	0.000000	0.85682	D	0.000000	D	0.91727	0.7384	M	0.74389	2.26	0.58432	D	0.999999	B;B	0.29766	0.256;0.256	B;B	0.37015	0.185;0.239	D	0.87438	0.2393	10	0.13108	T	0.6	.	9.2036	0.37275	0.3892:0.0:0.6108:0.0	.	173;173	Q14D71;Q9UK17	.;KCND3_HUMAN	L	173	ENSP00000358711:F173L;ENSP00000319591:F173L;ENSP00000306923:F173L	ENSP00000306923:F173L	F	-	3	2	KCND3	112326353	0.997000	0.39634	1.000000	0.80357	0.998000	0.95712	0.538000	0.23160	0.692000	0.31613	0.563000	0.77884	TTC		0.617	KCND3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000033144.1	NM_172198		3	34	1	0	1	1	1	3	34					T	112524830	G	T	112524830	3	4	240	1	0	0	0	0	1	0	0	0	8020	1049	37	5	1476	5	KCND3	1	112524830	Missense_Mutation	SNP	G	TCGA-HC-A4ZV-01A-11D-A26M-08	2700572	112524830	136725791	14	11176											
PEAR1	375033	broad.mit.edu	37	chr1	156877420	156877420	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	agctgtgacgtgtcctgttcCcagggcacttctggcttctt	4	14	11	12	1	2	1	0	1	2	0	4	1	4	1	2	2	1	4	2	2	0	4			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr1:156877420C>T	ENST00000338302.3	+	8	888	c.663C>T	c.(661-663)tcC>tcT	p.S221S	PEAR1_ENST00000292357.7_Silent_p.S221S			Q5VY43	PEAR1_HUMAN	platelet endothelial aggregation receptor 1	221					recognition of apoptotic cell (GO:0043654)	integral component of membrane (GO:0016021)|phagocytic cup (GO:0001891)				breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(6)|lung(22)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)	43	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					TGTCCTGTTCCCAGGGCACTT	0.577																																						ENST00000338302.3																			0				breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(6)|lung(22)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)	43						c.(661-663)tcC>tcT		platelet endothelial aggregation receptor 1							174	166	169					1																	156877420		2203	4300	6503	SO:0001819	synonymous_variant	375033					integral to membrane		g.chr1:156877420C>T	AK098809	CCDS30892.1	1q23.1	2008-02-05	2007-10-25	2007-10-25	ENSG00000187800	ENSG00000187800			33631	protein-coding gene	gene with protein product		610278	"multiple EGF-like-domains 12"	MEGF12		15851471	Standard	NM_001080471		Approved	JEDI, FLJ00193	uc001fqj.1	Q5VY43	OTTHUMG00000041293	ENST00000338302.3:c.663C>T	1.37:g.156877420C>T						PEAR1_ENST00000292357.7_Silent_p.S221S	p.S221S			Q5VY43	PEAR1_HUMAN			8	888	+	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)		221					Q8TEK2	Silent	SNP	ENST00000338302.3	37	c.663C>T	CCDS30892.1																																																																																				0.577	PEAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098937.2	NM_001080471		118	122	0	0	0	1	0	118	122					T	156877420	C	T	156877420	2	4	240	1	0	0	0	0	0	0	0	1	11712	610	22	3		3	PEAR1	1	156877420	Silent	SNP	C	TCGA-HC-A4ZV-01A-11D-A26M-08	44352590	156877420	92373201	15	11177											
F5	2153	broad.mit.edu	37	chr1	169483632	169483632	+	Silent	SNP	G	G	A																															ggaatgacacggataaacctGgaaatgattggggggttgaa																										TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr1:169483632G>A	ENST00000367797.3	-	25	6795	c.6594C>T	c.(6592-6594)tcC>tcT	p.S2198S	F5_ENST00000367796.3_Silent_p.S2203S	NM_000130.4	NP_000121	P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	2198	F5/8 type C 2. {ECO:0000255|PROSITE- ProRule:PRU00081}.				blood circulation (GO:0008015)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)|vesicle (GO:0031982)	copper ion binding (GO:0005507)			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				ART-123(DB05777)|Drotrecogin alfa(DB00055)	GGATAAACCTGGAAATGATTG	0.348																																						ENST00000367796.3																			0				NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128						c.(6607-6609)tcC>tcT		coagulation factor V (proaccelerin, labile factor)	Drotrecogin alfa(DB00055)						79	83	81					1																	169483632		2203	4300	6503	SO:0001819	synonymous_variant	2153				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity	g.chr1:169483632G>A	M14335	CCDS1281.1	1q23	2012-10-02			ENSG00000198734	ENSG00000198734			3542	protein-coding gene	gene with protein product		612309					Standard	NM_000130		Approved		uc001ggg.1	P12259	OTTHUMG00000034595	ENST00000367797.3:c.6594C>T	1.37:g.169483632G>A						F5_ENST00000495481.1_5'UTR|F5_ENST00000367797.3_Silent_p.S2198S	p.S2203S			P12259	FA5_HUMAN			25	6810	-	all_hematologic(923;0.208)		2198			F5/8 type C 2.		A8K6E8|Q14285|Q2EHR5|Q5R346|Q5R347|Q6UPU6|Q8WWQ6	Silent	SNP	ENST00000367797.3	37	c.6609C>T	CCDS1281.1																																																																																				0.348	F5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000083712.1	NM_000130		10	22	0	0	0	1	0	10	22					A	169483632	G	A	169483632	2	1	240	1	0	0	0	0	0	0	0	1	5348	1335	47	3		3	F5	1	169483632	Silent	SNP	G	TCGA-HC-A4ZV-01A-11D-A26M-08	12606212	169483632	79766989	16	11178	60	2									
F5	2153	broad.mit.edu	37	chr1	169483633	169483633	+	Missense_Mutation	SNP	G	G	A																															gaatgacacggataaacctgGaaatgattggggggttgaaa																										TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr1:169483633G>A	ENST00000367797.3	-	25	6794	c.6593C>T	c.(6592-6594)tCc>tTc	p.S2198F	F5_ENST00000367796.3_Missense_Mutation_p.S2203F	NM_000130.4	NP_000121	P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	2198	F5/8 type C 2. {ECO:0000255|PROSITE- ProRule:PRU00081}.				blood circulation (GO:0008015)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)|vesicle (GO:0031982)	copper ion binding (GO:0005507)			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				ART-123(DB05777)|Drotrecogin alfa(DB00055)	GATAAACCTGGAAATGATTGG	0.348																																						ENST00000367796.3																			0				NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128						c.(6607-6609)tCc>tTc		coagulation factor V (proaccelerin, labile factor)	Drotrecogin alfa(DB00055)						78	82	81					1																	169483633		2203	4300	6503	SO:0001583	missense	2153				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity	g.chr1:169483633G>A	M14335	CCDS1281.1	1q23	2012-10-02			ENSG00000198734	ENSG00000198734			3542	protein-coding gene	gene with protein product		612309					Standard	NM_000130		Approved		uc001ggg.1	P12259	OTTHUMG00000034595	ENST00000367797.3:c.6593C>T	1.37:g.169483633G>A	ENSP00000356771:p.Ser2198Phe					F5_ENST00000495481.1_5'UTR|F5_ENST00000367797.3_Missense_Mutation_p.S2198F	p.S2203F			P12259	FA5_HUMAN			25	6809	-	all_hematologic(923;0.208)		2198			F5/8 type C 2.		A8K6E8|Q14285|Q2EHR5|Q5R346|Q5R347|Q6UPU6|Q8WWQ6	Missense_Mutation	SNP	ENST00000367797.3	37	c.6608C>T	CCDS1281.1	.	.	.	.	.	.	.	.	.	.	G	23.9	4.471679	0.84533	.	.	ENSG00000198734	ENST00000367797;ENST00000367796	D;D	0.83075	-1.68;-1.68	5.09	5.09	0.68999	Coagulation factor 5/8 C-terminal type domain (3);Galactose-binding domain-like (1);	0.059006	0.64402	D	0.000001	D	0.90796	0.7110	M	0.82323	2.585	0.48830	D	0.999715	D	0.89917	1.0	D	0.87578	0.998	D	0.92137	0.5717	9	0.87932	D	0	-8.4071	18.0692	0.89400	0.0:0.0:1.0:0.0	.	2198	P12259	FA5_HUMAN	F	2198;2203	ENSP00000356771:S2198F;ENSP00000356770:S2203F	ENSP00000356770:S2203F	S	-	2	0	F5	167750257	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	8.131000	0.89601	2.356000	0.79943	0.591000	0.81541	TCC		0.348	F5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000083712.1	NM_000130		10	22	0	0	0	1	0	10	22					A	169483633	G	A	169483633	3	1	240	1	0	0	0	0	1	0	0	0	5348	1174	41	3	85	3	F5	1	169483633	Missense_Mutation	SNP	G	TCGA-HC-A4ZV-01A-11D-A26M-08	1	169483633	79766988	17	11179	60	2									
PIGR	5284	broad.mit.edu	37	chr1	207112706	207112706	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	accagtacttccgggtgtgcCggttgacagaggtgggtggg	6	9	18	8	2	0	2	0	1	0	1	1	2	1	2	3	5	2	2	3	5	1	3			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr1:207112706C>T	ENST00000356495.4	-	3	329	c.146G>A	c.(145-147)cGg>cAg	p.R49Q		NM_002644.3	NP_002635.2	P01833	PIGR_HUMAN	polymeric immunoglobulin receptor	49	Ig-like V-type 1.				detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc receptor signaling pathway (GO:0038093)|immunoglobulin transcytosis in epithelial cells mediated by polymeric immunoglobulin receptor (GO:0002415)|receptor clustering (GO:0043113)|retina homeostasis (GO:0001895)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	polymeric immunoglobulin receptor activity (GO:0001792)			central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						CCGGGTGTGCCGGTTGACAGA	0.567																																						ENST00000356495.4																			0				central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						c.(145-147)cGg>cAg		polymeric immunoglobulin receptor							78	78	78					1																	207112706		2203	4300	6503	SO:0001583	missense	5284					extracellular region|integral to plasma membrane	protein binding	g.chr1:207112706C>T		CCDS1474.1	1q31-q41	2013-01-11			ENSG00000162896	ENSG00000162896		"Immunoglobulin superfamily / V-set domain containing"	8968	protein-coding gene	gene with protein product		173880					Standard	NM_002644		Approved		uc001hez.3	P01833	OTTHUMG00000036581	ENST00000356495.4:c.146G>A	1.37:g.207112706C>T	ENSP00000348888:p.Arg49Gln						p.R49Q	NM_002644.3	NP_002635.2	P01833	PIGR_HUMAN			3	329	-			49			Ig-like V-type 1.		Q68D81|Q8IZY7	Missense_Mutation	SNP	ENST00000356495.4	37	c.146G>A	CCDS1474.1	.	.	.	.	.	.	.	.	.	.	C	24.8	4.573811	0.86542	.	.	ENSG00000162896	ENST00000356495	T	0.65364	-0.15	5.45	3.2	0.36748	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.218528	0.31612	N	0.007347	T	0.73869	0.3642	M	0.73430	2.235	0.30146	N	0.803511	D	0.89917	1.0	D	0.71184	0.972	T	0.70828	-0.4766	10	0.56958	D	0.05	-18.7944	8.3276	0.32167	0.0:0.7717:0.0:0.2283	.	49	P01833	PIGR_HUMAN	Q	49	ENSP00000348888:R49Q	ENSP00000348888:R49Q	R	-	2	0	PIGR	205179329	0.030000	0.19436	0.996000	0.52242	0.998000	0.95712	0.190000	0.17057	1.437000	0.47472	0.655000	0.94253	CGG		0.567	PIGR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088975.1	NM_002644		30	25	0	0	0	1	0	30	25					T	207112706	C	T	207112706	3	4	240	1	0	0	0	0	1	0	0	0	11897	652	23	2	2184	2	PIGR	1	207112706	Missense_Mutation	SNP	C	TCGA-HC-A4ZV-01A-11D-A26M-08	37629073	207112706	42137915	18	11180											
GPR137B	7107	broad.mit.edu	37	chr1	236306076	236306076	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcaccgtcgtctacaccgtgTtctacgcgctgctcttcgtg	4	13	9	15	6	4	0	1	0	3	0	6	0	4	0	2	0	3	3	2	0	2	4			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr1:236306076T>G	ENST00000366592.3	+	1	245	c.154T>G	c.(154-156)Ttc>Gtc	p.F52V	GPR137B_ENST00000366591.4_Missense_Mutation_p.F52V	NM_003272.3	NP_003263.1	O60478	G137B_HUMAN	G protein-coupled receptor 137B	52						integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)|membrane (GO:0016020)				endometrium(2)|large_intestine(1)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16	Ovarian(103;0.0634)|Breast(184;0.247)	all_cancers(173;0.197)|Prostate(94;0.219)|Acute lymphoblastic leukemia(190;0.226)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)			CTACACCGTGTTCTACGCGCT	0.652																																						ENST00000366592.3																			0				endometrium(2)|large_intestine(1)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16						c.(154-156)Ttc>Gtc		G protein-coupled receptor 137B							109	82	91					1																	236306076		2203	4300	6503	SO:0001583	missense	7107					integral to plasma membrane|membrane fraction		g.chr1:236306076T>G	AF027826	CCDS1609.1	1q42-q43	2012-08-10	2006-01-26	2006-01-26	ENSG00000077585	ENSG00000077585			11862	protein-coding gene	gene with protein product		604658	"transmembrane 7 superfamily member 1 (upregulated in kidney)"	TM7SF1		9521871	Standard	NM_003272		Approved		uc001hxq.3	O60478	OTTHUMG00000037994	ENST00000366592.3:c.154T>G	1.37:g.236306076T>G	ENSP00000355551:p.Phe52Val					GPR137B_ENST00000366591.4_Missense_Mutation_p.F52V	p.F52V	NM_003272.3	NP_003263.1	O60478	G137B_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		1	245	+	Ovarian(103;0.0634)|Breast(184;0.247)	all_cancers(173;0.197)|Prostate(94;0.219)|Acute lymphoblastic leukemia(190;0.226)	52					Q53EK7|Q5TAE6|Q6FHI3	Missense_Mutation	SNP	ENST00000366592.3	37	c.154T>G	CCDS1609.1	.	.	.	.	.	.	.	.	.	.	T	23.4	4.416671	0.83449	.	.	ENSG00000077585	ENST00000366592;ENST00000366591;ENST00000391852	T;T	0.13196	2.61;2.61	4.89	4.89	0.63831	.	0.000000	0.85682	D	0.000000	T	0.31979	0.0814	M	0.65975	2.015	0.80722	D	1	D	0.60575	0.988	P	0.60682	0.878	T	0.03773	-1.1005	10	0.52906	T	0.07	-24.9892	14.5509	0.68065	0.0:0.0:0.0:1.0	.	52	O60478	G137B_HUMAN	V	52;52;51	ENSP00000355551:F52V;ENSP00000355550:F52V	ENSP00000355550:F52V	F	+	1	0	GPR137B	234372699	1.000000	0.71417	0.987000	0.45799	0.996000	0.88848	4.824000	0.62701	1.837000	0.53436	0.449000	0.29647	TTC		0.652	GPR137B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092761.1	NM_003272		9	30	0	0	0	1	0	9	30					G	236306076	T	G	236306076	3	3	240	1	0	0	0	0	1	0	0	0	6646	1725	60	5	156	5	GPR137B	1	236306076	Missense_Mutation	SNP	T	TCGA-HC-A4ZV-01A-11D-A26M-08	29193370	236306076	12944545	19	11181											
RYR2	6262	broad.mit.edu	37	chr1	237756847	237756847	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtgggctggattacatcagaTttccatcagtatgacacagg	11	11	11	8	0	2	2	2	1	0	1	3	3	3	3	1	3	1	2	1	3	2	3	rs368930040	byFrequency	TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr1:237756847T>C	ENST00000366574.2	+	33	4664	c.4347T>C	c.(4345-4347)gaT>gaC	p.D1449D	RYR2_ENST00000542537.1_Silent_p.D1433D|RYR2_ENST00000360064.6_Silent_p.D1447D	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1449	4 X approximate repeats.|B30.2/SPRY 3. {ECO:0000255|PROSITE- ProRule:PRU00548}.				BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TTACATCAGATTTCCATCAGT	0.418													T|||	4	0.000798722	0.0023	0.0014	5008	,	,		19779	0		0	False		,,,				2504	0					ENST00000366574.2																			0				NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586						c.(4345-4347)gaT>gaC		ryanodine receptor 2 (cardiac)		T		7,3821		0,7,1907	106	98	101		4347	-1.7	0.9	1		101	0,8244		0,0,4122	no	coding-synonymous	RYR2	NM_001035.2		0,7,6029	CC,CT,TT		0.0,0.1829,0.058		1449/4968	237756847	7,12065	1914	4122	6036	SO:0001819	synonymous_variant	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237756847T>C	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"Ion channels / Ryanodine receptors", "EF-hand domain containing"	10484	protein-coding gene	gene with protein product		180902	"arrhythmogenic right ventricular dysplasia 2"	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.4347T>C	1.37:g.237756847T>C						RYR2_ENST00000360064.6_Silent_p.D1447D|RYR2_ENST00000542537.1_Silent_p.D1433D	p.D1449D	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		33	4664	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	1449			4 X approximate repeats.|B30.2/SPRY 3.		Q15411|Q546N8|Q5T3P2	Silent	SNP	ENST00000366574.2	37	c.4347T>C	CCDS55691.1																																																																																				0.418	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		4	61	0	0	0	1	0	4	61					C	237756847	T	C	237756847	2	2	240	1	0	0	0	0	0	0	0	1	13769	1490	52	4		4	RYR2	1	237756847	Silent	SNP	T	TCGA-HC-A4ZV-01A-11D-A26M-08	1450771	237756847	11493774	20	11182											
TTC7A	57217	broad.mit.edu	37	chr2	47256512	47256512	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atggccatcaccgagcacccTgagaacttcaagtgagtgcc	11	7	10	13	1	2	2	2	2	0	1	2	4	2	2	4	1	3	1	4	1	2	1			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr2:47256512T>A	ENST00000319190.5	+	15	2159	c.1791T>A	c.(1789-1791)ccT>ccA	p.P597P	TTC7A_ENST00000461601.1_3'UTR|TTC7A_ENST00000409245.1_Silent_p.P563P|TTC7A_ENST00000394850.2_Silent_p.P597P|TTC7A_ENST00000263737.6_Silent_p.P243P	NM_020458.2	NP_065191.2	Q9ULT0	TTC7A_HUMAN	tetratricopeptide repeat domain 7A	597					cellular iron ion homeostasis (GO:0006879)|hemopoiesis (GO:0030097)					breast(4)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	25		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	Lung(47;0.0792)|LUSC - Lung squamous cell carcinoma(58;0.114)			CCGAGCACCCTGAGAACTTCA	0.622																																						ENST00000319190.5																			0				breast(4)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	25						c.(1789-1791)ccT>ccA		tetratricopeptide repeat domain 7A							99	92	94					2																	47256512		2203	4300	6503	SO:0001819	synonymous_variant	57217						binding	g.chr2:47256512T>A	AB032966	CCDS33193.1, CCDS74510.1, CCDS74511.1	2p16.3	2013-01-10	2004-06-02	2004-06-02	ENSG00000068724	ENSG00000068724		"Tetratricopeptide (TTC) repeat domain containing"	19750	protein-coding gene	gene with protein product		609332	"tetratricopeptide repeat domain 7"	TTC7		10574461	Standard	XM_005264439		Approved	KIAA1140	uc002rvo.3	Q9ULT0	OTTHUMG00000153121	ENST00000319190.5:c.1791T>A	2.37:g.47256512T>A						TTC7A_ENST00000263737.6_Silent_p.P243P|TTC7A_ENST00000409245.1_Silent_p.P563P|TTC7A_ENST00000394850.2_Silent_p.P597P|TTC7A_ENST00000461601.1_3'UTR	p.P597P	NM_020458.2	NP_065191.2	Q9ULT0	TTC7A_HUMAN	Lung(47;0.0792)|LUSC - Lung squamous cell carcinoma(58;0.114)		15	2159	+		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	597					Q6PIX4|Q8ND67|Q9BUS3	Silent	SNP	ENST00000319190.5	37	c.1791T>A	CCDS33193.1																																																																																				0.622	TTC7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329667.2	XM_372927		24	47	0	0	0	1	0	24	47					A	47256512	T	A	47256512	2	1	240	1	0	0	0	0	0	0	0	1	16709	1567	55	5		5	TTC7A	2	47256512	Silent	SNP	T	TCGA-HC-A4ZV-01A-11D-A26M-08		47256512	195942861	21	11183											
HK2	3099	broad.mit.edu	37	chr2	75081432	75081432	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttttcaggttgaccagtatCtctaccacatgcgcctctct	7	15	6	13	1	3	1	1	1	2	0	5	1	3	1	3	1	2	2	3	1	2	5			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr2:75081432C>A	ENST00000290573.2	+	2	676	c.76C>A	c.(76-78)Ctc>Atc	p.L26I	HK2_ENST00000409174.1_5'UTR	NM_000189.4	NP_000180.2	P52789	HXK2_HUMAN	hexokinase 2	26	Hexokinase type-1 1.|Regulatory.				apoptotic mitochondrial changes (GO:0008637)|carbohydrate metabolic process (GO:0005975)|cellular glucose homeostasis (GO:0001678)|glucose 6-phosphate metabolic process (GO:0051156)|glucose metabolic process (GO:0006006)|glucose transport (GO:0015758)|glycolytic process (GO:0006096)|hexose transport (GO:0008645)|lactation (GO:0007595)|regulation of glucose import (GO:0046324)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)	ATP binding (GO:0005524)|fructokinase activity (GO:0008865)|glucokinase activity (GO:0004340)|glucose binding (GO:0005536)|hexokinase activity (GO:0004396)|mannokinase activity (GO:0019158)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	43						TGACCAGTATCTCTACCACAT	0.493																																						ENST00000290573.2																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	43						c.(76-78)Ctc>Atc		hexokinase 2							247	258	254					2																	75081432		2203	4300	6503	SO:0001583	missense	3099				apoptotic mitochondrial changes|glucose transport|glycolysis|transmembrane transport	cytosol|mitochondrial outer membrane	ATP binding|glucokinase activity	g.chr2:75081432C>A		CCDS1956.1	2p13	2010-03-19			ENSG00000159399	ENSG00000159399	2.7.1.1		4923	protein-coding gene	gene with protein product		601125					Standard	NM_000189		Approved		uc002snd.3	P52789	OTTHUMG00000129972	ENST00000290573.2:c.76C>A	2.37:g.75081432C>A	ENSP00000290573:p.Leu26Ile					HK2_ENST00000409174.1_5'UTR	p.L26I	NM_000189.4	NP_000180.2	P52789	HXK2_HUMAN			2	676	+			26			Regulatory.		D6W5J2|Q8WU87|Q9UN82	Missense_Mutation	SNP	ENST00000290573.2	37	c.76C>A	CCDS1956.1	.	.	.	.	.	.	.	.	.	.	C	25.4	4.637908	0.87760	.	.	ENSG00000159399	ENST00000290573;ENST00000535740	T	0.58506	0.33	5.13	5.13	0.70059	Hexokinase, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.75561	0.3866	M	0.74881	2.28	0.80722	D	1	D	0.71674	0.998	D	0.97110	1.0	T	0.76639	-0.2885	10	0.52906	T	0.07	-24.5184	16.123	0.81375	0.0:1.0:0.0:0.0	.	26	P52789	HXK2_HUMAN	I	26	ENSP00000290573:L26I	ENSP00000290573:L26I	L	+	1	0	HK2	74934940	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.320000	0.79064	2.665000	0.90641	0.561000	0.74099	CTC		0.493	HK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252238.2	NM_000189		65	119	1	0	4.14589e-37	1	5.08814e-37	65	119					A	75081432	C	A	75081432	3	1	240	1	0	0	0	0	1	0	0	0	7191	913	32	5	82	5	HK2	2	75081432	Missense_Mutation	SNP	C	TCGA-HC-A4ZV-01A-11D-A26M-08	27824920	75081432	168117941	22	11184											
RNF149	284996	broad.mit.edu	37	chr2	101893716	101893716	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tgtgctaggagatgggtcctCcatgccgagagtcactcctg	7	10	13	11	1	1	2	1	0	0	2	4	4	4	2	4	2	2	1	4	2	1	1			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr2:101893716C>A	ENST00000295317.3	-	7	1294	c.1187G>T	c.(1186-1188)gGa>gTa	p.G396V		NM_173647.3	NP_775918.2	Q8NC42	RN149_HUMAN	ring finger protein 149	396					cellular response to drug (GO:0035690)|negative regulation of MAPK cascade (GO:0043409)|regulation of protein stability (GO:0031647)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	12						GATGGGTCCTCCATGCCGAGA	0.458																																					Colon(25;331 612 6521 7355 31028)	ENST00000295317.3																			0				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	12						c.(1186-1188)gGa>gTa		ring finger protein 149							48	48	48					2																	101893716		2203	4300	6503	SO:0001583	missense	284996					integral to membrane	ligase activity|zinc ion binding	g.chr2:101893716C>A	AK074985	CCDS2051.1	2q12.1	2013-01-09			ENSG00000163162	ENSG00000163162		"RING-type (C3HC4) zinc fingers"	23137	protein-coding gene	gene with protein product							Standard	NM_173647		Approved	FLJ90504	uc002taz.2	Q8NC42	OTTHUMG00000130685	ENST00000295317.3:c.1187G>T	2.37:g.101893716C>A	ENSP00000295317:p.Gly396Val						p.G396V	NM_173647.3	NP_775918.2	Q8NC42	RN149_HUMAN			7	1294	-			396					Q53S14|Q8N5I8|Q8NBY5|Q8WUU3	Missense_Mutation	SNP	ENST00000295317.3	37	c.1187G>T	CCDS2051.1	.	.	.	.	.	.	.	.	.	.	C	9.810	1.182995	0.21870	.	.	ENSG00000163162	ENST00000295317	T	0.09817	2.94	4.89	1.78	0.24846	.	0.583811	0.16579	N	0.208283	T	0.08179	0.0204	L	0.34521	1.04	0.26779	N	0.969646	P	0.44627	0.839	B	0.41236	0.351	T	0.19192	-1.0313	10	0.87932	D	0	.	5.38	0.16186	0.0:0.624:0.1669:0.2091	.	396	Q8NC42	RN149_HUMAN	V	396	ENSP00000295317:G396V	ENSP00000295317:G396V	G	-	2	0	RNF149	101260148	0.979000	0.34478	0.006000	0.13384	0.005000	0.04900	0.696000	0.25541	0.471000	0.27319	0.563000	0.77884	GGA		0.458	RNF149-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253180.2	NM_173647		6	5	1	0	0.0293803	1	0.0301241	6	5					A	101893716	C	A	101893716	3	1	240	1	0	0	0	0	1	0	0	0	13450	855	30	5	19	5	RNF149	2	101893716	Missense_Mutation	SNP	C	TCGA-HC-A4ZV-01A-11D-A26M-08	26812284	101893716	141305657	23	11185											
KIF5C	3800	broad.mit.edu	37	chr2	149806898	149806898	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctctttgggtgggaactgcaGaaccaccatcgtcatttgct	8	12	10	11	1	2	1	1	0	1	1	3	2	2	2	2	2	4	2	2	2	2	2			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr2:149806898G>A	ENST00000435030.1	+	10	1258	c.890G>A	c.(889-891)aGa>aAa	p.R297K	KIF5C_ENST00000464066.1_3'UTR|KIF5C_ENST00000414838.2_Missense_Mutation_p.R202K|KIF5C_ENST00000397413.1_Missense_Mutation_p.R65K			O60282	KIF5C_HUMAN	kinesin family member 5C	297	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.|Microtubule-binding.				ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mRNA transport (GO:0051028)|organelle organization (GO:0006996)|protein localization (GO:0008104)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36				BRCA - Breast invasive adenocarcinoma(221;0.108)		GGGAACTGCAGAACCACCATC	0.468																																						ENST00000435030.1																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36						c.(889-891)aGa>aAa		kinesin family member 5C							123	123	123					2																	149806898		1962	4167	6129	SO:0001583	missense	3800				microtubule-based movement|organelle organization	cytoplasm|kinesin complex|microtubule	ATP binding|microtubule motor activity	g.chr2:149806898G>A	AB011103	CCDS74586.1	2q23	2008-02-05			ENSG00000168280	ENSG00000168280		"Kinesins"	6325	protein-coding gene	gene with protein product		604593				7514426	Standard	NM_004522		Approved		uc010zbu.2	O60282	OTTHUMG00000153779	ENST00000435030.1:c.890G>A	2.37:g.149806898G>A	ENSP00000393379:p.Arg297Lys					KIF5C_ENST00000397413.1_Missense_Mutation_p.R65K|KIF5C_ENST00000464066.1_3'UTR|KIF5C_ENST00000414838.2_Missense_Mutation_p.R202K	p.R297K			O60282	KIF5C_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.108)	10	1258	+			297			Kinesin-motor.|Microtubule-binding.		O95079|Q2YDC5	Missense_Mutation	SNP	ENST00000435030.1	37	c.890G>A		.	.	.	.	.	.	.	.	.	.	G	37	6.042442	0.97231	.	.	ENSG00000168280	ENST00000435030;ENST00000414838;ENST00000334436;ENST00000450621;ENST00000397413	T;T;T;T	0.72615	-0.67;-0.67;-0.67;-0.67	5.64	5.64	0.86602	Kinesin, motor domain (4);	0.000000	0.85682	D	0.000000	T	0.79009	0.4374	.	.	.	0.58432	D	0.999999	B	0.30889	0.299	P	0.48400	0.576	T	0.71915	-0.4448	9	0.28530	T	0.3	.	19.8946	0.96949	0.0:0.0:1.0:0.0	.	297	O60282	KIF5C_HUMAN	K	297;202;200;14;65	ENSP00000393379:R297K;ENSP00000410115:R202K;ENSP00000393270:R14K;ENSP00000380560:R65K	ENSP00000334176:R200K	R	+	2	0	KIF5C	149515144	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.657000	0.98554	2.937000	0.99478	0.650000	0.86243	AGA		0.468	KIF5C-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000332562.3	NM_004522		5	21	0	0	0	1	0	5	21					A	149806898	G	A	149806898	3	1	240	1	0	0	0	0	1	0	0	0	8307	942	33	3	850	3	KIF5C	2	149806898	Missense_Mutation	SNP	G	TCGA-HC-A4ZV-01A-11D-A26M-08	47913182	149806898	93392475	24	11186											
CACNB4	785	broad.mit.edu	37	chr2	152830186	152830186	+	Intron	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tctatgaaaatacttacagcCtccgagtcttcaattccatg	12	13	5	11	1	3	1	1	1	2	0	5	2	5	1	3	0	3	0	3	0	6	5			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr2:152830186C>A	ENST00000539935.1	-	3	215				CACNB4_ENST00000360283.6_Missense_Mutation_p.E14D|CACNB4_ENST00000427385.1_Intron|CACNB4_ENST00000397327.2_De_novo_Start_InFrame|CACNB4_ENST00000534999.1_Missense_Mutation_p.E14D|CACNB4_ENST00000475848.1_5'UTR|CACNB4_ENST00000201943.5_Intron	NM_000726.3|NM_001145798.1	NP_000717.2|NP_001139270.1	O00305	CACB4_HUMAN	calcium channel, voltage-dependent, beta 4 subunit						adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|calcium ion transmembrane transport (GO:0070588)|cAMP metabolic process (GO:0046058)|cellular calcium ion homeostasis (GO:0006874)|detection of light stimulus involved in visual perception (GO:0050908)|gamma-aminobutyric acid secretion (GO:0014051)|gamma-aminobutyric acid signaling pathway (GO:0007214)|membrane depolarization (GO:0051899)|muscle fiber development (GO:0048747)|neuromuscular junction development (GO:0007528)|neuronal action potential propagation (GO:0019227)|Peyer's patch development (GO:0048541)|regulation of voltage-gated calcium channel activity (GO:1901385)|spleen development (GO:0048536)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|T cell receptor signaling pathway (GO:0050852)|thymus development (GO:0048538)|transport (GO:0006810)	cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|plasma membrane (GO:0005886)|synapse (GO:0045202)|voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)	11				BRCA - Breast invasive adenocarcinoma(221;0.156)	Dronedarone(DB04855)|Nimodipine(DB00393)|Spironolactone(DB00421)|Verapamil(DB00661)	TACTTACAGCCTCCGAGTCTT	0.468																																						ENST00000360283.6																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)	11						c.(40-42)gaG>gaT		calcium channel, voltage-dependent, beta 4 subunit	Verapamil(DB00661)						74	72	73					2																	152830186		1866	4104	5970	SO:0001627	intron_variant	785				axon guidance|membrane depolarization|synaptic transmission	cytosol|internal side of plasma membrane|plasma membrane|synapse|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity	g.chr2:152830186C>A	AF038852	CCDS46426.1, CCDS46427.1, CCDS46428.1, CCDS54409.1	2q22-q23	2009-09-04			ENSG00000182389	ENSG00000182389		"Calcium channel subunits"	1404	protein-coding gene	gene with protein product		601949				9628818	Standard	NM_000726		Approved	EJM4	uc002tya.3	O00305	OTTHUMG00000155091	ENST00000539935.1:c.148-90302G>T	2.37:g.152830186C>A						CACNB4_ENST00000427385.1_Intron|CACNB4_ENST00000539935.1_Intron|CACNB4_ENST00000397327.2_De_novo_Start_InFrame|CACNB4_ENST00000201943.5_Intron|CACNB4_ENST00000534999.1_Missense_Mutation_p.E14D|CACNB4_ENST00000475848.1_5'UTR	p.E14D			O00305	CACB4_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.156)	1	299	-			0					A7BJ74|A8K1Y4|B4DG40|O60515|Q6B000|Q96L40	Missense_Mutation	SNP	ENST00000539935.1	37	c.42G>T	CCDS46426.1	.	.	.	.	.	.	.	.	.	.	C	14.21	2.466643	0.43839	.	.	ENSG00000182389	ENST00000360283;ENST00000534999	T;T	0.72505	-0.66;-0.66	5.78	5.78	0.91487	.	.	.	.	.	T	0.65322	0.2680	L	0.44542	1.39	0.33897	D	0.638076	B;P	0.41784	0.0;0.762	B;B	0.38264	0.001;0.269	T	0.71777	-0.4490	9	0.29301	T	0.29	.	18.7858	0.91954	0.0:1.0:0.0:0.0	.	14;14	E7DBM8;O00305-2	.;.	D	14	ENSP00000353425:E14D;ENSP00000443893:E14D	ENSP00000353425:E14D	E	-	3	2	CACNB4	152538432	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	3.879000	0.56138	2.740000	0.93945	0.313000	0.20887	GAG		0.468	CACNB4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000338385.4	NM_000726.3		5	11	1	0	0.184627	1	0.186935	5	11					A	152830186	C	A	152830186	1	1	240	0	1	0	0	0	0	0	0	0	2555	680	24	5		5	CACNB4	2	152830186	Intron	SNP	C	TCGA-HC-A4ZV-01A-11D-A26M-08	3023288	152830186	90369187	25	11187											
SPEG	10290	broad.mit.edu	37	chr2	220333704	220333704	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtcagtgctgttaacacccAtggccaggcccactgctcag	8	8	11	14	0	2	0	2	0	0	0	2	0	2	0	3	3	3	3	3	3	1	1			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr2:220333704A>G	ENST00000312358.7	+	12	3557	c.3425A>G	c.(3424-3426)cAt>cGt	p.H1142R	SPEG_ENST00000485813.1_3'UTR	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	1142	Ig-like 5.				cardiac muscle cell development (GO:0055013)|in utero embryonic development (GO:0001701)|muscle organ development (GO:0007517)|negative regulation of cell proliferation (GO:0008285)|respiratory system development (GO:0060541)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		GTTAACACCCATGGCCAGGCC	0.652																																						ENST00000312358.7																			0				breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100						c.(3424-3426)cAt>cGt		SPEG complex locus							44	54	51					2																	220333704		2066	4194	6260	SO:0001583	missense	10290				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity	g.chr2:220333704A>G	BC006346	CCDS42824.1, CCDS54432.1	2q35	2013-01-11	2006-04-27	2006-04-27	ENSG00000072195	ENSG00000072195		"Immunoglobulin superfamily / I-set domain containing"	16901	protein-coding gene	gene with protein product		615950	"aortic preferentially expressed gene 1"	APEG1		8663449, 10973969	Standard	NM_005876		Approved	MGC12676, KIAA1297, SPEGalpha, SPEGbeta, BPEG	uc010fwg.3	Q15772	OTTHUMG00000058925	ENST00000312358.7:c.3425A>G	2.37:g.220333704A>G	ENSP00000311684:p.His1142Arg					SPEG_ENST00000485813.1_3'UTR	p.H1142R	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)	12	3557	+		Renal(207;0.0183)	1142			Ig-like 5.		A8K0G6|A8MRU0|Q27J74|Q695L1|Q6FGA6|Q6ZQW1|Q6ZTL8|Q9P2P9	Missense_Mutation	SNP	ENST00000312358.7	37	c.3425A>G	CCDS42824.1	.	.	.	.	.	.	.	.	.	.	A	13.27	2.186853	0.38609	.	.	ENSG00000072195	ENST00000312358;ENST00000265327	T	0.66638	-0.22	4.77	4.77	0.60923	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.43416	D	0.000562	T	0.75019	0.3793	L	0.42686	1.345	0.80722	D	1	D	0.71674	0.998	D	0.72338	0.977	T	0.76534	-0.2924	10	0.52906	T	0.07	.	14.4658	0.67482	1.0:0.0:0.0:0.0	.	1142	Q15772	SPEG_HUMAN	R	1142	ENSP00000311684:H1142R	ENSP00000265327:H1142R	H	+	2	0	SPEG	220041948	1.000000	0.71417	0.584000	0.28653	0.257000	0.26127	7.220000	0.78008	2.015000	0.59207	0.533000	0.62120	CAT		0.652	SPEG-004	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130252.2	NM_005876		7	35	0	0	0	1	0	7	35					G	220333704	A	G	220333704	3	3	240	1	0	0	0	0	1	0	0	0	15035	217	8	4	3483	4	SPEG	2	220333704	Missense_Mutation	SNP	A	TCGA-HC-A4ZV-01A-11D-A26M-08	67503518	220333704	22865669	26	11188											
AP1S3	130340	broad.mit.edu	37	chr2	224642531	224642531	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctttatcagggagagtgatgTaccatttctgtagccgtaat	10	14	10	7	1	2	2	1	1	1	1	2	3	2	2	2	1	2	3	2	1	4	6			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr2:224642531T>A	ENST00000446015.2	-	2	92	c.59A>T	c.(58-60)tAc>tTc	p.Y20F	AP1S3_ENST00000396653.2_Missense_Mutation_p.Y20F|AP1S3_ENST00000443700.1_Missense_Mutation_p.Y20F|AP1S3_ENST00000396654.2_Missense_Mutation_p.Y20F|AP1S3_ENST00000423110.1_Missense_Mutation_p.Y20F|AP1S3_ENST00000409375.1_Missense_Mutation_p.Y20F			Q96PC3	AP1S3_HUMAN	adaptor-related protein complex 1, sigma 3 subunit	20					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of defense response to virus by virus (GO:0050690)|viral process (GO:0016032)	coated pit (GO:0005905)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|Golgi membrane (GO:0000139)|lysosomal membrane (GO:0005765)|membrane coat (GO:0030117)|trans-Golgi network membrane (GO:0032588)	protein transporter activity (GO:0008565)			NS(1)|breast(1)|lung(2)	4		Renal(207;0.0112)|Lung NSC(271;0.0186)|all_lung(227;0.0272)		Epithelial(121;7.6e-10)|all cancers(144;3.62e-07)|Lung(261;0.0086)|LUSC - Lung squamous cell carcinoma(224;0.00902)		GAGAGTGATGTACCATTTCTG	0.423																																						ENST00000443700.1																			0				NS(1)|breast(1)|lung(2)	4						c.(58-60)tAc>tTc		adaptor-related protein complex 1, sigma 3 subunit							83	77	79					2																	224642531		1868	4096	5964	SO:0001583	missense	130340				endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction	coated pit|cytoplasmic vesicle membrane|cytosol|Golgi membrane|lysosomal membrane|membrane coat	protein transporter activity	g.chr2:224642531T>A	AF393369	CCDS42827.1	2q36.3	2008-02-05			ENSG00000152056	ENSG00000152056			18971	protein-coding gene	gene with protein product		615781					Standard	NR_110905		Approved		uc002vnn.3	Q96PC3	OTTHUMG00000133165	ENST00000446015.2:c.59A>T	2.37:g.224642531T>A	ENSP00000388738:p.Tyr20Phe					AP1S3_ENST00000423110.1_Missense_Mutation_p.Y20F|AP1S3_ENST00000409375.1_Missense_Mutation_p.Y20F|AP1S3_ENST00000396654.2_Missense_Mutation_p.Y20F|AP1S3_ENST00000446015.2_Missense_Mutation_p.Y20F|AP1S3_ENST00000396653.2_Missense_Mutation_p.Y20F	p.Y20F			Q96PC3	AP1S3_HUMAN		Epithelial(121;7.6e-10)|all cancers(144;3.62e-07)|Lung(261;0.0086)|LUSC - Lung squamous cell carcinoma(224;0.00902)	2	210	-		Renal(207;0.0112)|Lung NSC(271;0.0186)|all_lung(227;0.0272)	20					B4DQZ1|Q8WTY1|Q96DD1	Missense_Mutation	SNP	ENST00000446015.2	37	c.59A>T		.	.	.	.	.	.	.	.	.	.	T	8.584	0.882981	0.17467	.	.	ENSG00000152056	ENST00000443700;ENST00000396654;ENST00000396653;ENST00000446015;ENST00000409375;ENST00000423110	.	.	.	5.92	5.92	0.95590	Longin-like (1);AP complex, mu/sigma subunit (1);	0.061993	0.64402	D	0.000002	T	0.47266	0.1436	N	0.17564	0.495	0.52501	D	0.999956	B;B	0.23990	0.002;0.095	B;B	0.36608	0.005;0.229	T	0.46470	-0.9189	9	0.38643	T	0.18	.	12.0439	0.53469	0.129:0.0:0.0:0.871	.	20;20	Q96PC3;Q96PC3-4	AP1S3_HUMAN;.	F	20	.	ENSP00000333888:Y20F	Y	-	2	0	AP1S3	224350775	0.983000	0.35010	1.000000	0.80357	0.312000	0.27988	1.351000	0.34022	2.277000	0.76020	0.528000	0.53228	TAC		0.423	AP1S3-008	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000383293.1			10	11	0	0	0	1	0	10	11					A	224642531	T	A	224642531	3	1	240	1	0	0	0	0	1	0	0	0	738	1638	57	5	421	5	AP1S3	2	224642531	Missense_Mutation	SNP	T	TCGA-HC-A4ZV-01A-11D-A26M-08	4308827	224642531	18556842	27	11189											
GPR55	9290	broad.mit.edu	37	chr2	231775091	231775091	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggagcagcagaagcccatgAtgcccatgggaaggaggaag	13	4	16	8	0	0	2	0	1	0	1	0	6	0	6	2	4	4	2	2	4	3	0			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr2:231775091A>G	ENST00000392040.1	-	2	779	c.587T>C	c.(586-588)aTc>aCc	p.I196T	GPR55_ENST00000392039.2_Missense_Mutation_p.I196T|AC012507.4_ENST00000454890.1_RNA	NM_005683.3	NP_005674.2	Q9Y2T6	GPR55_HUMAN	G protein-coupled receptor 55	196					activation of phospholipase C activity (GO:0007202)|bone resorption (GO:0045453)|cannabinoid signaling pathway (GO:0038171)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of osteoclast differentiation (GO:0045671)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of Rho protein signal transduction (GO:0035025)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cannabinoid receptor activity (GO:0004949)|G-protein coupled receptor activity (GO:0004930)			endometrium(1)|large_intestine(1)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Renal(207;0.0112)|all_lung(227;0.0741)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167)|Lung NSC(271;0.204)		Epithelial(121;1.04e-11)|all cancers(144;4.22e-09)|LUSC - Lung squamous cell carcinoma(224;0.0119)|Lung(119;0.0145)		GAAGCCCATGATGCCCATGGG	0.567																																						ENST00000392040.1																			0				endometrium(1)|large_intestine(1)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						c.(586-588)aTc>aCc		G protein-coupled receptor 55							100	104	103					2																	231775091		2203	4300	6503	SO:0001583	missense	9290				activation of phospholipase C activity|bone resorption|negative regulation of osteoclast differentiation|positive regulation of ERK1 and ERK2 cascade|positive regulation of Rho protein signal transduction	integral to plasma membrane	cannabinoid receptor activity	g.chr2:231775091A>G	AF096786	CCDS2480.1	2q37	2012-08-21			ENSG00000135898	ENSG00000135898		"GPCR / Class A : Orphans"	4511	protein-coding gene	gene with protein product		604107				9931487	Standard	NM_005683		Approved		uc002vrg.3	Q9Y2T6	OTTHUMG00000133224	ENST00000392040.1:c.587T>C	2.37:g.231775091A>G	ENSP00000375894:p.Ile196Thr					GPR55_ENST00000392039.2_Missense_Mutation_p.I196T	p.I196T	NM_005683.3	NP_005674.2	Q9Y2T6	GPR55_HUMAN		Epithelial(121;1.04e-11)|all cancers(144;4.22e-09)|LUSC - Lung squamous cell carcinoma(224;0.0119)|Lung(119;0.0145)	2	779	-		Renal(207;0.0112)|all_lung(227;0.0741)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167)|Lung NSC(271;0.204)	196					Q8N580	Missense_Mutation	SNP	ENST00000392040.1	37	c.587T>C	CCDS2480.1	.	.	.	.	.	.	.	.	.	.	A	13.33	2.206386	0.39003	.	.	ENSG00000135898	ENST00000392040;ENST00000392039;ENST00000438398	T;T;T	0.42131	0.98;0.98;0.98	5.38	4.21	0.49690	GPCR, rhodopsin-like superfamily (1);	0.329432	0.30869	N	0.008714	T	0.38480	0.1042	L	0.57536	1.79	0.21782	N	0.999543	B	0.14012	0.009	B	0.20384	0.029	T	0.31971	-0.9924	10	0.49607	T	0.09	-27.6869	9.6662	0.39986	0.9149:0.0:0.0851:0.0	.	196	Q9Y2T6	GPR55_HUMAN	T	196	ENSP00000375894:I196T;ENSP00000375893:I196T;ENSP00000412768:I196T	ENSP00000375893:I196T	I	-	2	0	GPR55	231483335	0.277000	0.24220	0.017000	0.16124	0.994000	0.84299	4.529000	0.60588	2.025000	0.59659	0.459000	0.35465	ATC		0.567	GPR55-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332618.1	NM_005683		34	55	0	0	0	1	0	34	55					G	231775091	A	G	231775091	3	3	240	1	0	0	0	0	1	0	0	0	6699	333	12	4	376	4	GPR55	2	231775091	Missense_Mutation	SNP	A	TCGA-HC-A4ZV-01A-11D-A26M-08	7132560	231775091	11424282	28	11190											
TTLL3	26140	broad.mit.edu	37	chr3	9855030	9855030	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	atggaacacatgctctgatgGtgagggccctgggggccaag	9	7	16	9	0	1	2	0	2	1	0	1	3	1	3	2	5	2	1	2	5	2	0			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr3:9855030G>A	ENST00000547186.1	+	4	531		c.e4+1		ARPC4-TTLL3_ENST00000397256.1_Splice_Site|TTLL3_ENST00000397241.1_Splice_Site|TTLL3_ENST00000427853.3_Splice_Site|RP11-266J6.2_ENST00000602768.1_RNA|TTLL3_ENST00000426895.4_Splice_Site	NM_001025930.3	NP_001021100.3	Q9Y4R7	TTLL3_HUMAN	tubulin tyrosine ligase-like family, member 3						axoneme assembly (GO:0035082)|cilium assembly (GO:0042384)|protein polyglycylation (GO:0018094)	axoneme (GO:0005930)|cilium (GO:0005929)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)	protein-glycine ligase activity (GO:0070735)|protein-glycine ligase activity, initiating (GO:0070736)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(2)|skin(1)	26	Medulloblastoma(99;0.227)					TGCTCTGATGGTGAGGGCCCT	0.517																																						ENST00000547186.1																			0				central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(2)|skin(1)	26						c.e4+1		tubulin tyrosine ligase-like family, member 3							92	89	90					3																	9855030		2014	4182	6196	SO:0001630	splice_region_variant	26140				axoneme assembly|cilium assembly|protein polyglycylation	cilium axoneme|cytoplasm|microtubule	protein-glycine ligase activity, initiating|tubulin-tyrosine ligase activity	g.chr3:9855030G>A		CCDS43048.1, CCDS43048.2	3p25.3	2013-02-14			ENSG00000214021	ENSG00000214021		"Tubulin tyrosine ligase-like family"	24483	protein-coding gene	gene with protein product						11054573	Standard	NR_037162		Approved	DKFZP434B103, HOTTL	uc003btg.4	Q9Y4R7	OTTHUMG00000128439	ENST00000547186.1:c.315+1G>A	3.37:g.9855030G>A						TTLL3_ENST00000397241.1_Splice_Site|TTLL3_ENST00000426895.4_Splice_Site|TTLL3_ENST00000427853.3_Splice_Site|ARPC4-TTLL3_ENST00000397256.1_Splice_Site		NM_001025930.3	NP_001021100.3	Q9Y4R7	TTLL3_HUMAN			4	531	+	Medulloblastoma(99;0.227)							Q4KMS8|Q6AWA3|Q6ZU95|Q8NDN8|Q96GG8|Q9H876|Q9UI99	Splice_Site	SNP	ENST00000547186.1	37			.	.	.	.	.	.	.	.	.	.	G	17.49	3.401611	0.62288	.	.	ENSG00000250151;ENSG00000214021;ENSG00000214021;ENSG00000214021;ENSG00000214021;ENSG00000214021;ENSG00000214021;ENSG00000214021;ENSG00000214021;ENSG00000214021;ENSG00000214021;ENSG00000214021;ENSG00000214021;ENSG00000214021;ENSG00000214021	ENST00000397256;ENST00000414814;ENST00000452597;ENST00000419081;ENST00000438596;ENST00000417065;ENST00000439814;ENST00000418745;ENST00000430718;ENST00000426895;ENST00000547186;ENST00000426827;ENST00000422738;ENST00000310252;ENST00000452823	.	.	.	4.89	4.89	0.63831	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.7228	0.62737	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ARPC4-TTLL3;TTLL3	9830030	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	4.168000	0.58216	2.688000	0.91661	0.563000	0.77884	.		0.517	TTLL3-203	KNOWN	basic	protein_coding	protein_coding		NM_001025930.2	Intron	5	7	0	0	0	1	0	5	7					A	9855030	G	A	9855030	5	1	240	1	0	0	0	0	0	0	1	0	16725	1275	44	3	326	3	TTLL3	3	9855030	Splice_Site	SNP	G	TCGA-HC-A4ZV-01A-11D-A26M-08		9855030	188167400	29	11191											
DALRD3	55152	broad.mit.edu	37	chr3	49053448	49053448	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggagccccggggctgtgcaGtccagcactgctgtccggct	4	8	15	14	2	0	0	0	0	0	0	2	1	2	1	4	4	4	5	4	4	0	0			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr3:49053448G>T	ENST00000341949.4	-	10	1407	c.1401C>A	c.(1399-1401)gaC>gaA	p.D467E	DALRD3_ENST00000440857.1_Missense_Mutation_p.D300E|DALRD3_ENST00000395462.4_Missense_Mutation_p.D300E|DALRD3_ENST00000496568.1_5'Flank|DALRD3_ENST00000441576.2_Missense_Mutation_p.L459M|DALRD3_ENST00000313778.5_Missense_Mutation_p.D300E	NM_001009996.1	NP_001009996.1	Q5D0E6	DALD3_HUMAN	DALR anticodon binding domain containing 3	467					arginyl-tRNA aminoacylation (GO:0006420)		arginine-tRNA ligase activity (GO:0004814)|ATP binding (GO:0005524)			breast(2)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)	12				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		GGGCTGTGCAGTCCAGCACTG	0.567																																						ENST00000440857.1																			0				breast(2)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)	12						c.(898-900)gaC>gaA		DALR anticodon binding domain containing 3							58	65	63					3																	49053448		2203	4300	6503	SO:0001583	missense	55152				arginyl-tRNA aminoacylation	cytoplasm	arginine-tRNA ligase activity|ATP binding	g.chr3:49053448G>T	BC014099	CCDS2783.1, CCDS33754.1, CCDS63632.1	3p21.31	2005-01-10			ENSG00000178149	ENSG00000178149			25536	protein-coding gene	gene with protein product						12477932	Standard	NM_001009996		Approved	FLJ10496	uc003cvk.2	Q5D0E6	OTTHUMG00000156748	ENST00000341949.4:c.1401C>A	3.37:g.49053448G>T	ENSP00000344989:p.Asp467Glu					DALRD3_ENST00000441576.2_Missense_Mutation_p.L459M|DALRD3_ENST00000395462.4_Missense_Mutation_p.D300E|DALRD3_ENST00000341949.4_Missense_Mutation_p.D467E|DALRD3_ENST00000313778.5_Missense_Mutation_p.D300E	p.D300E			Q5D0E6	DALD3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	11	1602	-			467					Q7Z5S7|Q86WY1|Q8N105|Q8NA89|Q9NVU8	Missense_Mutation	SNP	ENST00000341949.4	37	c.900C>A	CCDS33754.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	0.066|0.066	-1.213047|-1.213047	0.01555|0.01555	.|.	.|.	ENSG00000178149|ENSG00000178149	ENST00000341949;ENST00000395462;ENST00000440857;ENST00000313778|ENST00000438585;ENST00000441576	T;T;T;T|T	0.76060|0.53206	-0.99;-0.99;0.94;-0.99|0.63	4.96|4.96	-3.16|-3.16	0.05217|0.05217	Aminoacyl-tRNA synthetase, class 1a, anticodon-binding (1);DALR anticodon binding (2);|.	0.898318|.	0.09835|.	N|.	0.749732|.	T|T	0.22859|0.22859	0.0552|0.0552	N|N	0.19112|0.19112	0.55|0.55	0.09310|0.09310	N|N	1|1	B;B|B	0.22211|0.28933	0.066;0.015|0.228	B;B|B	0.17722|0.26969	0.019;0.013|0.075	T|T	0.16928|0.16928	-1.0386|-1.0386	10|8	0.02654|.	T|.	1|.	-0.8564|-0.8564	1.5268|1.5268	0.02527|0.02527	0.3269:0.1017:0.3648:0.2066|0.3269:0.1017:0.3648:0.2066	.|.	300;467|459	C9JJG6;Q5D0E6|Q5D0E6-2	.;DALD3_HUMAN|.	E|M	467;300;300;300|114;459	ENSP00000344989:D467E;ENSP00000378846:D300E;ENSP00000403770:D300E;ENSP00000323265:D300E|ENSP00000410623:L459M	ENSP00000323265:D300E|.	D|L	-|-	3|1	2|2	DALRD3|DALRD3	49028452|49028452	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.616000|0.616000	0.37450|0.37450	-0.168000|-0.168000	0.09925|0.09925	-0.509000|-0.509000	0.06532|0.06532	0.556000|0.556000	0.70494|0.70494	GAC|CTG		0.567	DALRD3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345581.1	NM_018114		19	41	1	0	1.55795e-14	1	1.86953e-14	19	41					T	49053448	G	T	49053448	3	4	240	1	0	0	0	0	1	0	0	0	4229	1020	36	5	242	5	DALRD3	3	49053448	Missense_Mutation	SNP	G	TCGA-HC-A4ZV-01A-11D-A26M-08	39198418	49053448	148968982	30	11192											
ATR	545	broad.mit.edu	37	chr3	142204017	142204017	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actatataccggatgagatcAccttgcttttccattttgtt	9	17	6	9	1	1	1	1	1	0	1	2	3	2	2	3	1	2	2	3	1	3	9			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr3:142204017A>T	ENST00000350721.4	-	36	6307	c.6186T>A	c.(6184-6186)ggT>ggA	p.G2062G	ATR_ENST00000383101.3_Silent_p.G1998G	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ATR serine/threonine kinase	2062	FAT. {ECO:0000255|PROSITE- ProRule:PRU00534}.				cell cycle (GO:0007049)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|cellular response to UV (GO:0034644)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|multicellular organismal development (GO:0007275)|negative regulation of DNA replication (GO:0008156)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|protein autophosphorylation (GO:0046777)|regulation of protein binding (GO:0043393)|replicative senescence (GO:0090399)|response to drug (GO:0042493)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|PML body (GO:0016605)|XY body (GO:0001741)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|MutLalpha complex binding (GO:0032405)|MutSalpha complex binding (GO:0032407)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						GGATGAGATCACCTTGCTTTT	0.408								Other conserved DNA damage response genes																														ENST00000350721.4																			0				NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						c.(6184-6186)ggT>ggA	Other conserved DNA damage response genes	ataxia telangiectasia and Rad3 related							208	195	199					3																	142204017		2203	4300	6503	SO:0001819	synonymous_variant	545				cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence	PML body	ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity	g.chr3:142204017A>T	U76308	CCDS3124.1	3q23	2014-06-17	2014-06-17		ENSG00000175054	ENSG00000175054			882	protein-coding gene	gene with protein product	"MEC1, mitosis entry checkpoint 1, homolog (S. cerevisiae)"	601215	"ataxia telangiectasia and Rad3 related"			8978690, 8610130	Standard	NM_001184		Approved	FRP1, SCKL, SCKL1, MEC1	uc003eux.4	Q13535	OTTHUMG00000159234	ENST00000350721.4:c.6186T>A	3.37:g.142204017A>T						ATR_ENST00000383101.3_Silent_p.G1998G	p.G2062G	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN			36	6307	-			2062			FAT.		Q59HB2|Q7KYL3|Q93051|Q9BXK4	Silent	SNP	ENST00000350721.4	37	c.6186T>A	CCDS3124.1																																																																																				0.408	ATR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353995.2	NM_001184		5	57	0	0	0	1	0	5	57					T	142204017	A	T	142204017	2	4	240	1	0	0	0	0	0	0	0	1	1204	146	6	5		5	ATR	3	142204017	Silent	SNP	A	TCGA-HC-A4ZV-01A-11D-A26M-08	93150569	142204017	55818413	31	11193											
MME	4311	broad.mit.edu	37	chr3	154884795	154884795	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	taggacacgaaatcacccatGgcttcgatgacaatggtaaa	15	8	9	9	2	1	1	1	1	0	0	2	4	1	2	1	3	0	2	1	3	5	3			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr3:154884795G>T	ENST00000460393.1	+	18	1885	c.1765G>T	c.(1765-1767)Ggc>Tgc	p.G589C	MME_ENST00000492661.1_Missense_Mutation_p.G589C|MME_ENST00000493237.1_Missense_Mutation_p.G589C|MME_ENST00000360490.2_Missense_Mutation_p.G589C|MME-AS1_ENST00000484721.1_RNA|MME_ENST00000462745.1_Missense_Mutation_p.G589C	NM_000902.3|NM_007287.2	NP_000893.2|NP_009218.2	P08473	NEP_HUMAN	membrane metallo-endopeptidase	589					angiotensin maturation (GO:0002003)|beta-amyloid metabolic process (GO:0050435)|cellular protein metabolic process (GO:0044267)|cellular response to cytokine stimulus (GO:0071345)|cellular response to UV-A (GO:0071492)|cellular response to UV-B (GO:0071493)|creatinine metabolic process (GO:0046449)|kidney development (GO:0001822)|peptide metabolic process (GO:0006518)|proteolysis (GO:0006508)|replicative senescence (GO:0090399)|sensory perception of pain (GO:0019233)	axon (GO:0030424)|brush border (GO:0005903)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|neuron projection terminus (GO:0044306)|plasma membrane (GO:0005886)|synapse (GO:0045202)|synaptic vesicle (GO:0008021)	endopeptidase activity (GO:0004175)|metalloendopeptidase activity (GO:0004222)|peptide binding (GO:0042277)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(31)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64		all_neural(597;0.00391)|Myeloproliferative disorder(1037;0.0122)	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.135)		Candoxatril(DB00616)|Liraglutide(DB06655)	AATCACCCATGGCTTCGATGA	0.443																																						ENST00000460393.1																			0				central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(31)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64						c.(1765-1767)Ggc>Tgc		membrane metallo-endopeptidase	Candoxatril(DB00616)						142	130	134					3																	154884795		2203	4300	6503	SO:0001583	missense	4311				cell-cell signaling|proteolysis	integral to plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding	g.chr3:154884795G>T		CCDS3172.1	3q25.2	2012-01-31	2007-02-21		ENSG00000196549	ENSG00000196549	3.4.24.11	"CD molecules"	7154	protein-coding gene	gene with protein product	"neutral endopeptidase", "enkephalinase", "neprilysin"	120520					Standard	NM_007287		Approved	CALLA, CD10, NEP	uc003fad.1	P08473	OTTHUMG00000158455	ENST00000460393.1:c.1765G>T	3.37:g.154884795G>T	ENSP00000418525:p.Gly589Cys					MME_ENST00000492661.1_Missense_Mutation_p.G589C|MME_ENST00000493237.1_Missense_Mutation_p.G589C|MME-AS1_ENST00000484721.1_RNA|MME_ENST00000462745.1_Missense_Mutation_p.G589C|MME_ENST00000360490.2_Missense_Mutation_p.G589C	p.G589C	NM_000902.3|NM_007287.2	NP_000893.2|NP_009218.2	P08473	NEP_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.135)		18	1885	+		all_neural(597;0.00391)|Myeloproliferative disorder(1037;0.0122)	589					A8K6U6|D3DNJ9|Q3MIX4	Missense_Mutation	SNP	ENST00000460393.1	37	c.1765G>T	CCDS3172.1	.	.	.	.	.	.	.	.	.	.	G	28.6	4.932156	0.92389	.	.	ENSG00000196549	ENST00000492661;ENST00000460393;ENST00000462745;ENST00000493237;ENST00000360490	D;D;D;D;D	0.86230	-2.09;-2.09;-2.09;-2.09;-2.09	5.9	5.9	0.94986	Peptidase M13, neprilysin, C-terminal (2);Metallopeptidase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.97015	0.9025	H	0.99565	4.63	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98221	1.0478	10	0.87932	D	0	-16.9681	20.2789	0.98501	0.0:0.0:1.0:0.0	.	589	P08473	NEP_HUMAN	C	589	ENSP00000420389:G589C;ENSP00000418525:G589C;ENSP00000419653:G589C;ENSP00000417079:G589C;ENSP00000353679:G589C	ENSP00000353679:G589C	G	+	1	0	MME	156367489	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.731000	0.98807	2.788000	0.95919	0.650000	0.86243	GGC		0.443	MME-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351076.1	NM_000902		19	75	1	0	1.96292e-10	1	2.27138e-10	19	75					T	154884795	G	T	154884795	3	4	240	1	0	0	0	0	1	0	0	0	9645	1348	47	5	1831	5	MME	3	154884795	Missense_Mutation	SNP	G	TCGA-HC-A4ZV-01A-11D-A26M-08	12680778	154884795	43137635	32	11194											
SERPINI1	5274	broad.mit.edu	37	chr3	167525032	167525032	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tctccctatgtgttctccagGttcacagtggaacaggaaat	10	12	9	10	0	3	0	1	0	2	0	5	2	3	2	2	3	1	2	2	3	3	3			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr3:167525032G>T	ENST00000295777.5	+	6	1313	c.882G>T	c.(880-882)agG>agT	p.R294S	SERPINI1_ENST00000488374.1_3'UTR|SERPINI1_ENST00000446050.2_Splice_Site_p.R294S	NM_005025.4	NP_005016.1	Q99574	NEUS_HUMAN	serpin peptidase inhibitor, clade I (neuroserpin), member 1	294					cell death (GO:0008219)|central nervous system development (GO:0007417)|negative regulation of endopeptidase activity (GO:0010951)|peripheral nervous system development (GO:0007422)|regulation of cell adhesion (GO:0030155)|regulation of proteolysis (GO:0030162)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase inhibitor activity (GO:0004867)			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(7)|skin(2)	20						TGTTCTCCAGGTTCACAGTGG	0.348																																						ENST00000295777.5																			0				NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(7)|skin(2)	20						c.e6-1		serpin peptidase inhibitor, clade I (neuroserpin), member 1							60	66	64					3																	167525032		2203	4296	6499	SO:0001630	splice_region_variant	5274				central nervous system development|peripheral nervous system development|regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity	g.chr3:167525032G>T	Z81326	CCDS3203.1	3q26.1	2014-02-18	2005-08-18		ENSG00000163536	ENSG00000163536		"Serine (or cysteine) peptidase inhibitors"	8943	protein-coding gene	gene with protein product		602445	"serine (or cysteine) proteinase inhibitor, clade I (neuroserpin), member 1"	PI12		24172014	Standard	NM_005025		Approved	neuroserpin	uc003ffa.4	Q99574	OTTHUMG00000158450	ENST00000295777.5:c.882-1G>T	3.37:g.167525032G>T						SERPINI1_ENST00000488374.1_3'UTR|SERPINI1_ENST00000446050.2_Splice_Site_p.R294_splice	p.R294_splice	NM_005025.4	NP_005016.1	Q99574	NEUS_HUMAN			6	1313	+			294					A8K217|D3DNP1|Q6AHZ4	Splice_Site	SNP	ENST00000295777.5	37	c.881_splice	CCDS3203.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.15|17.15	3.314899|3.314899	0.60524|0.60524	.|.	.|.	ENSG00000163536|ENSG00000163536	ENST00000446050;ENST00000295777;ENST00000466979|ENST00000466865	T;T|.	0.76448|.	-1.02;-1.02|.	5.36|5.36	3.56|3.56	0.40772|0.40772	Serpin domain (3);|.	0.043551|.	0.85682|.	D|.	0.000000|.	T|T	0.81093|0.81093	0.4751|0.4751	H|H	0.94964|0.94964	3.605|3.605	0.51482|0.51482	D|D	0.999922|0.999922	D|.	0.89917|.	1.0|.	D|.	0.91635|.	0.999|.	D|D	0.84117|0.84117	0.0404|0.0404	10|5	0.87932|.	D|.	0|.	.|.	9.4835|9.4835	0.38915|0.38915	0.1646:0.0:0.8354:0.0|0.1646:0.0:0.8354:0.0	.|.	294|.	Q99574|.	NEUS_HUMAN|.	S|F	294;294;42|3	ENSP00000397373:R294S;ENSP00000295777:R294S|.	ENSP00000295777:R294S|.	R|V	+|+	3|1	2|0	SERPINI1|SERPINI1	169007726|169007726	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.777000|0.777000	0.43975|0.43975	2.405000|2.405000	0.44548|0.44548	1.263000|1.263000	0.44181|0.44181	0.655000|0.655000	0.94253|0.94253	AGG|GTT		0.348	SERPINI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351056.1		Missense_Mutation	5	35	1	0	1.23904e-05	1	1.34714e-05	5	35					T	167525032	G	T	167525032	5	4	240	1	0	0	0	0	0	0	1	0	14118	1275	44	5	900	5	SERPINI1	3	167525032	Splice_Site	SNP	G	TCGA-HC-A4ZV-01A-11D-A26M-08	12640237	167525032	30497398	33	11195											
ZNF721	170960	broad.mit.edu	37	chr4	436020	436020	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gagtttatctccagtatgaaTtttcttatattcgttcaggt	9	19	7	6	1	3	1	1	1	2	0	5	2	3	1	1	1	0	3	1	1	5	9			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr4:436020T>C	ENST00000338977.5	-	2	2248	c.2200A>G	c.(2200-2202)Att>Gtt	p.I734V	ZNF721_ENST00000511833.2_Missense_Mutation_p.I746V|ABCA11P_ENST00000451020.2_RNA|ZNF721_ENST00000507078.1_Intron|ZNF721_ENST00000506646.1_Intron			Q8TF20	ZN721_HUMAN	zinc finger protein 721	734					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(2)|kidney(2)|large_intestine(15)|lung(6)|ovary(1)|skin(1)|stomach(5)|urinary_tract(1)	33						CCAGTATGAATTTTCTTATAT	0.378																																						ENST00000338977.5																			0				endometrium(2)|kidney(2)|large_intestine(15)|lung(6)|ovary(1)|skin(1)|stomach(5)|urinary_tract(1)	33						c.(2200-2202)Att>Gtt		zinc finger protein 721							31	33	32					4																	436020		1990	4173	6163	SO:0001583	missense	170960							g.chr4:436020T>C	AK092362	CCDS46991.1	4p16.3	2013-01-08			ENSG00000182903	ENSG00000182903		"Zinc fingers, C2H2-type", "-"	29425	protein-coding gene	gene with protein product						11853319	Standard	NM_133474		Approved	KIAA1982	uc003gag.4	Q8TF20		ENST00000338977.5:c.2200A>G	4.37:g.436020T>C	ENSP00000340524:p.Ile734Val					ABCA11P_ENST00000451020.2_RNA|ZNF721_ENST00000511833.2_Missense_Mutation_p.I746V|ZNF721_ENST00000507078.1_Intron|ZNF721_ENST00000506646.1_Intron	p.I734V							2	2248	-								Q69YG7	Missense_Mutation	SNP	ENST00000338977.5	37	c.2200A>G		.	.	.	.	.	.	.	.	.	.	T	5.407	0.260309	0.10239	.	.	ENSG00000182903	ENST00000338977;ENST00000511833	T;T	0.00986	5.47;5.47	1.28	1.28	0.21552	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.00906	0.0030	N	0.26042	0.785	0.09310	N	1	B;B;B	0.24618	0.047;0.107;0.087	B;B;B	0.30179	0.112;0.015;0.009	T	0.48007	-0.9072	9	0.30854	T	0.27	.	6.3325	0.21279	0.0:0.0:0.0:1.0	.	734;746;746	Q8TF20;D9N162;Q8TF20-2	ZN721_HUMAN;.;.	V	734;746	ENSP00000340524:I734V;ENSP00000428878:I746V	ENSP00000340524:I734V	I	-	1	0	ZNF721	426020	0.000000	0.05858	0.003000	0.11579	0.049000	0.14656	-0.666000	0.05280	0.561000	0.29186	0.155000	0.16302	ATT		0.378	ZNF721-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000357939.1	NM_133474		9	11	0	0	0	1	0	9	11					C	436020	T	C	436020	3	2	240	1	0	0	0	0	1	0	0	0	18119	1493	52	4	539	4	ZNF721	4	436020	Missense_Mutation	SNP	T	TCGA-HC-A4ZV-01A-11D-A26M-08		436020	190718256	34	11196											
ZNF518B	85460	broad.mit.edu	37	chr4	10445228	10445228	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgaaggatccttgagacagcGgctaggttcagcttgaattt	10	12	12	7	1	1	3	1	3	0	1	2	5	2	4	1	3	2	3	1	3	3	5	rs561875461	byFrequency	TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr4:10445228G>A	ENST00000326756.3	-	3	3163	c.2725C>T	c.(2725-2727)Cgc>Tgc	p.R909C		NM_053042.2	NP_444270.2	Q9C0D4	Z518B_HUMAN	zinc finger protein 518B	909					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	42						TTGAGACAGCGGCTAGGTTCA	0.428													G|||	2	0.000399361	0	0	5008	,	,		19999	0		0	False		,,,				2504	0.002					ENST00000326756.3																			0				breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	42						c.(2725-2727)Cgc>Tgc		zinc finger protein 518B							94	97	96					4																	10445228		2203	4300	6503	SO:0001583	missense	85460				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr4:10445228G>A	AB051516	CCDS33960.1	4p16.1	2007-12-07				ENSG00000178163		"Zinc fingers, C2H2-type"	29365	protein-coding gene	gene with protein product						11214970	Standard	XM_005248193		Approved	KIAA1729	uc003gmn.3	Q9C0D4		ENST00000326756.3:c.2725C>T	4.37:g.10445228G>A	ENSP00000317614:p.Arg909Cys						p.R909C	NM_053042.2	NP_444270.2	Q9C0D4	Z518B_HUMAN			3	3163	-			909					Q96LN8	Missense_Mutation	SNP	ENST00000326756.3	37	c.2725C>T	CCDS33960.1	.	.	.	.	.	.	.	.	.	.	G	13.01	2.108690	0.37242	.	.	ENSG00000178163	ENST00000326756	T	0.01705	4.68	6.01	6.01	0.97437	.	0.991890	0.08199	N	0.982613	T	0.05547	0.0146	L	0.40543	1.245	0.09310	N	1	D	0.76494	0.999	P	0.53146	0.719	T	0.52223	-0.8604	10	0.62326	D	0.03	-3.0462	16.0212	0.80493	0.0:0.0:1.0:0.0	.	909	Q9C0D4	Z518B_HUMAN	C	909	ENSP00000317614:R909C	ENSP00000317614:R909C	R	-	1	0	ZNF518B	10054326	0.368000	0.25031	0.144000	0.22314	0.015000	0.08874	1.521000	0.35910	2.861000	0.98227	0.650000	0.86243	CGC		0.428	ZNF518B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359040.1	NM_053042		20	51	0	0	0	1	0	20	51					A	10445228	G	A	10445228	3	1	240	1	0	0	0	0	1	0	0	0	17960	1116	39	2	503	2	ZNF518B	4	10445228	Missense_Mutation	SNP	G	TCGA-HC-A4ZV-01A-11D-A26M-08	10009208	10445228	180709048	35	11197											
AFF1	4299	broad.mit.edu	37	chr4	87968120	87968120	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	acaatccaaagatggcgcagCcaagaactgaaccaatgcca	17	4	8	12	1	0	3	0	1	0	2	1	3	1	3	4	1	4	1	4	1	6	0			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr4:87968120C>A	ENST00000307808.6	+	3	832	c.412C>A	c.(412-414)Cca>Aca	p.P138T	AFF1_ENST00000395146.4_Missense_Mutation_p.P145T|AFF1_ENST00000544085.1_Intron	NM_005935.2	NP_005926.1	P51825	AFF1_HUMAN	AF4/FMR2 family, member 1	138					positive regulation of transcription, DNA-templated (GO:0045893)	transcription elongation factor complex (GO:0008023)	sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|large_intestine(2)	3		Acute lymphoblastic leukemia(40;0.0935)|all_hematologic(202;0.111)|Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000233)		GATGGCGCAGCCAAGAACTGA	0.572																																						ENST00000307808.6																			0				breast(1)|large_intestine(2)	3						c.(412-414)Cca>Aca		AF4/FMR2 family, member 1							89	88	89					4																	87968120		2203	4300	6503	SO:0001583	missense	4299					nucleus	sequence-specific DNA binding transcription factor activity	g.chr4:87968120C>A	L22179	CCDS3616.1, CCDS54775.1	4q21.3	2009-08-04	2005-06-27	2005-06-27	ENSG00000172493	ENSG00000172493			7135	protein-coding gene	gene with protein product		159557	"myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 2", "pre-B-cell monocytic leukemia partner 1"	PBM1, MLLT2		7689231, 1423625, 8353274	Standard	NM_005935		Approved	AF-4, AF4	uc011ccz.2	P51825	OTTHUMG00000130603	ENST00000307808.6:c.412C>A	4.37:g.87968120C>A	ENSP00000305689:p.Pro138Thr					AFF1_ENST00000395146.4_Missense_Mutation_p.P145T|AFF1_ENST00000544085.1_Intron	p.P138T	NM_005935.2	NP_005926.1	P51825	AFF1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000233)	3	832	+		Acute lymphoblastic leukemia(40;0.0935)|all_hematologic(202;0.111)|Hepatocellular(203;0.114)	138					B4DTU1|E9PBM3	Missense_Mutation	SNP	ENST00000307808.6	37	c.412C>A	CCDS3616.1	.	.	.	.	.	.	.	.	.	.	C	12.46	1.943519	0.34283	.	.	ENSG00000172493	ENST00000395146;ENST00000395142;ENST00000507468;ENST00000503477;ENST00000307808	T;T;T;T	0.65732	-0.17;-0.17;-0.17;-0.17	5.8	3.98	0.46160	.	0.568968	0.18213	N	0.148106	T	0.72859	0.3513	M	0.69823	2.125	0.80722	D	1	D;D;D;D;D;D	0.76494	0.992;0.997;0.997;0.999;0.999;0.992	D;D;D;D;D;D	0.74674	0.938;0.939;0.939;0.984;0.984;0.938	T	0.70941	-0.4735	10	0.42905	T	0.14	-10.753	7.0286	0.24954	0.0:0.6485:0.1518:0.1998	.	145;145;79;138;138;145	E9PBM3;B4DXZ8;B4DJM6;Q14C88;P51825;B4DTU1	.;.;.;.;AFF1_HUMAN;.	T	145;145;145;145;138	ENSP00000378578:P145T;ENSP00000427593:P145T;ENSP00000424483:P145T;ENSP00000305689:P138T	ENSP00000305689:P138T	P	+	1	0	AFF1	88187144	0.000000	0.05858	0.999000	0.59377	0.020000	0.10135	0.002000	0.13061	2.748000	0.94277	0.655000	0.94253	CCA		0.572	AFF1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253053.3	NM_005935		15	33	1	0	3.27435e-08	1	3.76202e-08	15	33					A	87968120	C	A	87968120	3	1	240	1	0	0	0	0	1	0	0	0	356	739	26	5	464	5	AFF1	4	87968120	Missense_Mutation	SNP	C	TCGA-HC-A4ZV-01A-11D-A26M-08	77522892	87968120	103186156	36	11198											
PCDH10	57575	broad.mit.edu	37	chr4	134071887	134071887	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gagagcagcaagcggtgcacCgctacgtgctgaccgcggtg	8	5	16	12	5	0	2	0	1	0	1	0	3	0	2	2	2	6	5	2	2	2	1			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr4:134071887C>T	ENST00000264360.5	+	1	1418	c.592C>T	c.(592-594)Cgc>Tgc	p.R198C	RP11-9G1.3_ENST00000505289.1_lincRNA	NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	198	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		AGCGGTGCACCGCTACGTGCT	0.682																																						ENST00000264360.4																			0				NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136						c.(592-594)Cgc>Tgc		protocadherin 10							44	41	42					4																	134071887		2203	4300	6503	SO:0001583	missense	57575				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:134071887C>T	AB037821	CCDS34063.1, CCDS75192.1	4q28.3	2010-01-26				ENSG00000138650		"Cadherins / Protocadherins : Non-clustered"	13404	protein-coding gene	gene with protein product		608286				10835267	Standard	NM_020815		Approved	OL-PCDH, KIAA1400	uc003iha.3	Q9P2E7		ENST00000264360.5:c.592C>T	4.37:g.134071887C>T	ENSP00000264360:p.Arg198Cys						p.R198C	NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN		LUSC - Lung squamous cell carcinoma(193;0.227)	1	1418	+			198			Cadherin 2.		Q4W5F6|Q96SF0	Missense_Mutation	SNP	ENST00000264360.5	37	c.592C>T	CCDS34063.1	.	.	.	.	.	.	.	.	.	.	C	16.19	3.052766	0.55218	.	.	ENSG00000138650	ENST00000264360;ENST00000394248	T	0.20881	2.04	4.31	4.31	0.51392	Cadherin (3);Cadherin-like (1);	0.000000	0.45361	D	0.000378	T	0.45337	0.1337	M	0.84846	2.72	0.58432	D	0.999999	D;D	0.89917	1.0;0.998	P;P	0.61658	0.84;0.892	T	0.52109	-0.8619	10	0.72032	D	0.01	.	11.783	0.52026	0.1759:0.8241:0.0:0.0	.	198;198	Q9P2E7;Q96SF0	PCD10_HUMAN;.	C	198	ENSP00000264360:R198C	ENSP00000264360:R198C	R	+	1	0	PCDH10	134291337	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.939000	0.48995	2.199000	0.70637	0.555000	0.69702	CGC		0.682	PCDH10-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000364457.2	NM_032961		17	30	0	0	0	1	0	17	30					T	134071887	C	T	134071887	3	4	240	1	0	0	0	0	1	0	0	0	11507	652	23	2	594	2	PCDH10	4	134071887	Missense_Mutation	SNP	C	TCGA-HC-A4ZV-01A-11D-A26M-08	46103767	134071887	57082389	37	11199											
ODZ3	55714	broad.mit.edu	37	chr4	183714866	183714866	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcctgtatgacccactcacCaaattaatccactttggaga	12	10	7	12	0	1	2	1	1	0	1	2	3	2	2	4	2	0	1	4	2	3	3			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr4:183714866C>A	ENST00000511685.1	+	26	7164	c.7041C>A	c.(7039-7041)acC>acA	p.T2347T	TENM3_ENST00000406950.2_Silent_p.T2347T			Q9P273	TEN3_HUMAN	teneurin transmembrane protein 3	2347					camera-type eye morphogenesis (GO:0048593)|homophilic cell adhesion (GO:0007156)|positive regulation of neuron projection development (GO:0010976)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cell projection (GO:0042995)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)										ACCCACTCACCAAATTAATCC	0.408																																						ENST00000511685.1																			0											c.(7039-7041)acC>acA		teneurin transmembrane protein 3							117	115	116					4																	183714866		1854	4088	5942	SO:0001819	synonymous_variant	55714							g.chr4:183714866C>A	AF195420	CCDS47165.1	4q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000218336	ENSG00000218336			29944	protein-coding gene	gene with protein product		610083	"odz, odd Oz/ten-m homolog 3 (Drosophila)"	ODZ3		10331952, 10625539	Standard	NM_001080477		Approved	Ten-M3, KIAA1455	uc003ivd.1	Q9P273	OTTHUMG00000160682	ENST00000511685.1:c.7041C>A	4.37:g.183714866C>A						TENM3_ENST00000406950.2_Silent_p.T2347T	p.T2347T							26	7164	+								Q5XUL9|Q96SY2|Q9NV77|Q9NVW1|Q9NZJ2	Silent	SNP	ENST00000511685.1	37	c.7041C>A	CCDS47165.1																																																																																				0.408	TENM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361734.1			21	33	1	0	1.10513e-12	1	1.3068e-12	21	33					A	183714866	C	A	183714866	2	1	240	1	0	0	0	0	0	0	0	1	10836	581	21	5		5	ODZ3	4	183714866	Silent	SNP	C	TCGA-HC-A4ZV-01A-11D-A26M-08	49642979	183714866	7439410	38	11200											
STOX2	56977	broad.mit.edu	37	chr4	184930515	184930515	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tcagtgcacctctccgcaacCcgggaccatcacgccctctg	7	7	8	19	3	4	0	2	0	2	0	5	1	4	1	5	1	2	2	5	1	1	0			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr4:184930515C>A	ENST00000308497.4	+	3	1959	c.524C>A	c.(523-525)cCc>cAc	p.P175H	STOX2_ENST00000438269.1_Missense_Mutation_p.P175H	NM_020225.1	NP_064610.1	Q9P2F5	STOX2_HUMAN	storkhead box 2	175					embryo development (GO:0009790)|maternal placenta development (GO:0001893)					breast(1)|endometrium(7)|lung(6)	14		all_lung(41;1.89e-12)|Lung NSC(41;3.48e-12)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|all_hematologic(60;0.027)|Prostate(90;0.0283)		all cancers(43;2.85e-26)|Epithelial(43;2.27e-22)|OV - Ovarian serous cystadenocarcinoma(60;3.4e-10)|Colorectal(24;8.23e-06)|GBM - Glioblastoma multiforme(59;1.64e-05)|STAD - Stomach adenocarcinoma(60;3.6e-05)|COAD - Colon adenocarcinoma(29;4.37e-05)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.227)		TCTCCGCAACCCGGGACCATC	0.537																																						ENST00000308497.4																			0				breast(1)|endometrium(7)|lung(6)	14						c.(523-525)cCc>cAc		storkhead box 2							91	96	94					4																	184930515		2135	4228	6363	SO:0001583	missense	56977				embryo development|maternal placenta development			g.chr4:184930515C>A	AB037813	CCDS47167.1	4q35.1	2014-09-11			ENSG00000173320	ENSG00000173320			25450	protein-coding gene	gene with protein product							Standard	XM_005263142		Approved	DKFZp762K222	uc003ivz.1	Q9P2F5	OTTHUMG00000160618	ENST00000308497.4:c.524C>A	4.37:g.184930515C>A	ENSP00000311257:p.Pro175His					STOX2_ENST00000438269.1_Missense_Mutation_p.P175H	p.P175H	NM_020225.1	NP_064610.1	Q9P2F5	STOX2_HUMAN		all cancers(43;2.85e-26)|Epithelial(43;2.27e-22)|OV - Ovarian serous cystadenocarcinoma(60;3.4e-10)|Colorectal(24;8.23e-06)|GBM - Glioblastoma multiforme(59;1.64e-05)|STAD - Stomach adenocarcinoma(60;3.6e-05)|COAD - Colon adenocarcinoma(29;4.37e-05)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.227)	3	1959	+		all_lung(41;1.89e-12)|Lung NSC(41;3.48e-12)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|all_hematologic(60;0.027)|Prostate(90;0.0283)	175					A6H8U4|Q9NPS8	Missense_Mutation	SNP	ENST00000308497.4	37	c.524C>A	CCDS47167.1	.	.	.	.	.	.	.	.	.	.	C	15.85	2.955384	0.53293	.	.	ENSG00000173320	ENST00000308497;ENST00000438269;ENST00000512520	T;T;T	0.77489	-0.1;-1.1;-1.06	5.25	5.25	0.73442	.	0.162937	0.56097	D	0.000031	T	0.72260	0.3438	L	0.39898	1.24	0.46874	D	0.999233	B	0.22909	0.077	B	0.30782	0.12	T	0.68119	-0.5493	10	0.44086	T	0.13	-15.4698	14.0895	0.64980	0.1849:0.8151:0.0:0.0	.	175	Q9P2F5	STOX2_HUMAN	H	175;175;113	ENSP00000311257:P175H;ENSP00000390127:P175H;ENSP00000425388:P113H	ENSP00000311257:P175H	P	+	2	0	STOX2	185167509	1.000000	0.71417	0.126000	0.21872	0.540000	0.34992	6.015000	0.70791	2.894000	0.99253	0.655000	0.94253	CCC		0.537	STOX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361433.3	NM_020225		27	57	1	0	2.25844e-05	1	2.42296e-05	27	57					A	184930515	C	A	184930515	3	1	240	1	0	0	0	0	1	0	0	0	15319	623	22	5	534	5	STOX2	4	184930515	Missense_Mutation	SNP	C	TCGA-HC-A4ZV-01A-11D-A26M-08	1215649	184930515	6223761	39	11201											
PRR16	51334	broad.mit.edu	37	chr5	120022392	120022392	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atcttgaggaagtcaaccacTacaaccgtgtgatgtatgcc	12	10	9	10	1	2	2	1	2	1	0	2	3	2	3	3	1	4	1	3	1	5	3			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr5:120022392T>C	ENST00000407149.2	+	2	1112	c.903T>C	c.(901-903)acT>acC	p.T301T	PRR16_ENST00000505123.1_Silent_p.T231T|PRR16_ENST00000446965.1_Silent_p.T231T|PRR16_ENST00000379551.2_Silent_p.T278T			Q569H4	LARGN_HUMAN	proline rich 16	301					positive regulation of cell size (GO:0045793)|positive regulation of translation (GO:0045727)					endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	28		all_cancers(142;0.0464)|Prostate(80;0.00446)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.000126)|Epithelial(69;0.000331)|all cancers(49;0.00169)		AGTCAACCACTACAACCGTGT	0.373																																						ENST00000379551.2																			0				endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	28						c.(832-834)acT>acC		proline rich 16							54	55	54					5																	120022392		2203	4299	6502	SO:0001819	synonymous_variant	51334							g.chr5:120022392T>C	AF242769	CCDS4127.1, CCDS75290.1	5q23.1	2006-08-22			ENSG00000184838	ENSG00000184838			29654	protein-coding gene	gene with protein product		615931				15971941	Standard	XM_005272010		Approved	DSC54	uc003ksp.3	Q569H4	OTTHUMG00000128903	ENST00000407149.2:c.903T>C	5.37:g.120022392T>C						PRR16_ENST00000446965.1_Silent_p.T231T|PRR16_ENST00000505123.1_Silent_p.T231T|PRR16_ENST00000407149.2_Silent_p.T301T	p.T278T	NM_016644.1	NP_057728.1	Q569H4	PRR16_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.000126)|Epithelial(69;0.000331)|all cancers(49;0.00169)	3	1191	+		all_cancers(142;0.0464)|Prostate(80;0.00446)	301			Pro-rich.		D3DSZ0|Q8IXY1|Q9NYI5	Silent	SNP	ENST00000407149.2	37	c.834T>C																																																																																					0.373	PRR16-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000371059.1	NM_016644		18	19	0	0	0	1	0	18	19					C	120022392	T	C	120022392	2	2	240	1	0	0	0	0	0	0	0	1	12589	1509	53	4		4	PRR16	5	120022392	Silent	SNP	T	TCGA-HC-A4ZV-01A-11D-A26M-08		120022392	60892868	40	11202											
PCDHA11	56138	broad.mit.edu	37	chr5	140250177	140250177	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctactcgctggtggagcggCggttgggcgaccgcgcgctg	3	7	18	13	7	0	0	0	0	0	0	1	2	0	1	2	5	2	3	2	5	1	2	rs202164332	byFrequency	TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr5:140250177C>T	ENST00000398640.2	+	1	1489	c.1489C>T	c.(1489-1491)Cgg>Tgg	p.R497W	PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA6_ENST00000529310.1_Intron	NM_018902.3	NP_061725.1	Q9Y5I1	PCDAB_HUMAN	protocadherin alpha 11	497	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			breast(1)|lung(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGTGGAGCGGCGGTTGGGCGA	0.677													.|||	28	0.00559105	0.0212	0	5008	,	,		17006	0		0	False		,,,				2504	0					ENST00000398640.2																			0				breast(1)|lung(1)	2						c.(1489-1491)Cgg>Tgg				C	,,TRP/ARG,,,,,,,,,,,,TRP/ARG	80,4326	68.1+/-105.8	1,78,2124	67	73	71		,,1489,,,,,,,,,,,,1489	3.5	1	5	dbSNP_134	71	0,8596		0,0,4298	no	intron,intron,missense,intron,intron,intron,intron,intron,intron,intron,intron,intron,intron,intron,missense	PCDHA9,PCDHA11,PCDHA10,PCDHA8,PCDHA7,PCDHA6,PCDHA5,PCDHA4,PCDHA3,PCDHA2,PCDHA1	NM_018900.2,NM_018901.2,NM_018902.3,NM_018905.2,NM_018906.2,NM_018907.2,NM_018908.2,NM_018909.2,NM_018910.2,NM_018911.2,NM_031411.1,NM_031849.1,NM_031857.1,NM_031860.1,NM_031861.1	,,101,,,,,,,,,,,,101	1,78,6422	TT,TC,CC		0.0,1.8157,0.6153	,,,,,,,,,,,,,,	,,497/950,,,,,,,,,,,,497/811	140250177	80,12922	2203	4298	6501	SO:0001583	missense	0							g.chr5:140250177C>T	AF152476	CCDS47284.1, CCDS75326.1	5q31	2010-11-26			ENSG00000249158	ENSG00000249158		"Cadherins / Protocadherins : Clustered"	8665	other	complex locus constituent	"KIAA0345-like 3", "ortholog of mouse CNR7"	606317		CNRS7		10380929, 10662547	Standard	NM_018902		Approved	CNR7, CRNR7, CNRN7, PCDH-ALPHA11		Q9Y5I1	OTTHUMG00000163369	ENST00000398640.2:c.1489C>T	5.37:g.140250177C>T	ENSP00000381636:p.Arg497Trp					PCDHA8_ENST00000531613.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron	p.R497W	NM_018902.3	NP_061725.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1489	+								B2RN58|O75279	Missense_Mutation	SNP	ENST00000398640.2	37	c.1489C>T	CCDS47284.1	7	0.003205128205128205	7	0.014227642276422764	0	0.0	0	0.0	0	0.0	C	15.04	2.715181	0.48622	0.018157	0.0	ENSG00000249158	ENST00000398640	T	0.52526	0.66	5.33	3.52	0.40303	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.18923	0.0454	L	0.43923	1.385	0.09310	N	1	P;B	0.37176	0.586;0.282	B;B	0.26693	0.072;0.056	T	0.13548	-1.0505	9	0.66056	D	0.02	.	6.6014	0.22703	0.3218:0.595:0.0:0.0832	.	497;497	Q9Y5I1-2;Q9Y5I1	.;PCDAB_HUMAN	W	497	ENSP00000381636:R497W	ENSP00000381636:R497W	R	+	1	2	PCDHA11	140230361	0.000000	0.05858	0.998000	0.56505	0.934000	0.57294	-0.445000	0.06845	0.599000	0.29845	0.556000	0.70494	CGG		0.677	PCDHA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372885.2	NM_018902		5	103	0	0	0	1	0	5	103					T	140250177	C	T	140250177	3	4	240	1	0	0	0	0	1	0	0	0	11521	759	27	1	1491	1	PCDHA11	5	140250177	Missense_Mutation	SNP	C	TCGA-HC-A4ZV-01A-11D-A26M-08	20227785	140250177	40665083	41	11203											
PCDHGA8	9708	broad.mit.edu	37	chr5	140773100	140773100	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gatacaaatgacaatgccccGgtttttcctcacccgattta	11	12	6	12	2	1	1	1	1	0	0	2	3	2	1	4	1	2	1	4	1	4	5			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr5:140773100G>A	ENST00000398604.2	+	1	720	c.720G>A	c.(718-720)ccG>ccA	p.P240P	PCDHGA4_ENST00000571252.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA6_ENST00000517434.1_Intron	NM_032088.1	NP_114477.1	Q9Y5G5	PCDG8_HUMAN	protocadherin gamma subfamily A, 8	240	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(6)|kidney(6)|large_intestine(6)|lung(30)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	51			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACAATGCCCCGGTTTTTCCTC	0.582																																						ENST00000398604.2																			0				endometrium(6)|kidney(6)|large_intestine(6)|lung(30)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	51						c.(718-720)ccG>ccA									76	82	80					5																	140773100		2077	4232	6309	SO:0001819	synonymous_variant	0							g.chr5:140773100G>A	AF152515	CCDS47291.1, CCDS75338.1	5q31	2010-01-26			ENSG00000253767	ENSG00000253767		"Cadherins / Protocadherins : Clustered"	8706	other	protocadherin		606295				10380929	Standard	NM_014004		Approved	KIAA0327, PCDH-GAMMA-A8		Q9Y5G5	OTTHUMG00000164053	ENST00000398604.2:c.720G>A	5.37:g.140773100G>A						PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB3_ENST00000576222.1_Intron	p.P240P	NM_032088.1	NP_114477.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	720	+								A7MCZ4|O15039	Silent	SNP	ENST00000398604.2	37	c.720G>A	CCDS47291.1																																																																																				0.582	PCDHGA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376972.1	NM_032088		26	64	0	0	0	1	0	26	64					A	140773100	G	A	140773100	2	1	240	1	0	0	0	0	0	0	0	1	11560	1103	39	2		2	PCDHGA8	5	140773100	Silent	SNP	G	TCGA-HC-A4ZV-01A-11D-A26M-08	522923	140773100	40142160	42	11204											
SPRY4	81848	broad.mit.edu	37	chr5	141694233	141694233	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgtccagctcgggtgggacCgccgggcccttgaggtccag	4	8	16	13	3	0	1	0	1	0	0	3	2	2	2	5	4	1	1	5	4	0	2			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr5:141694233C>T	ENST00000434127.2	-	2	684	c.441G>A	c.(439-441)gcG>gcA	p.A147A	SPRY4_ENST00000503582.1_5'Flank|SPRY4_ENST00000344120.4_Silent_p.A170A	NM_001127496.1	NP_001120968.1	Q9C004	SPY4_HUMAN	sprouty homolog 4 (Drosophila)	147					multicellular organismal development (GO:0007275)|negative regulation of MAP kinase activity (GO:0043407)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(7)|ovary(1)	18		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGGGTGGGACCGCCGGGCCCT	0.652									Testicular Cancer, Familial Clustering of																													ENST00000344120.4																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(7)|ovary(1)	18						c.(508-510)gcG>gcA		sprouty homolog 4 (Drosophila)							46	52	50					5																	141694233		2203	4300	6503	SO:0001819	synonymous_variant	81848	Testicular Cancer, Familial Clustering of	Familial Cancer Database		multicellular organismal development	cytoplasm|ruffle membrane	protein binding	g.chr5:141694233C>T	AF227516	CCDS4274.1, CCDS47296.1	5q31.3	2010-08-05			ENSG00000187678	ENSG00000187678			15533	protein-coding gene	gene with protein product		607984				16465403	Standard	NM_030964		Approved		uc010jgi.1	Q9C004	OTTHUMG00000129663	ENST00000434127.2:c.441G>A	5.37:g.141694233C>T						SPRY4_ENST00000434127.2_Silent_p.A147A	p.A170A	NM_030964.3	NP_112226.2	Q9C004	SPY4_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		3	696	-		all_hematologic(541;0.118)	147			Cys-rich.|SPR.		A4FVB2|A4FVB3|Q6QIX2|Q9C003	Silent	SNP	ENST00000434127.2	37	c.510G>A	CCDS47296.1																																																																																				0.652	SPRY4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370652.1			6	86	0	0	0	1	0	6	86					T	141694233	C	T	141694233	2	4	240	1	0	0	0	0	0	0	0	1	15107	639	23	2		2	SPRY4	5	141694233	Silent	SNP	C	TCGA-HC-A4ZV-01A-11D-A26M-08	921133	141694233	39221027	43	11205											
TTC1	7265	broad.mit.edu	37	chr5	159437759	159437759	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ctcatttgaggaggagccagGagcggacaaggttgagaaca	13	6	15	7	1	1	2	1	2	0	1	1	7	1	6	1	5	3	1	1	5	2	2			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr5:159437759G>T	ENST00000231238.5	+	2	334	c.224G>T	c.(223-225)gGa>gTa	p.G75V	TTC1_ENST00000522793.1_Missense_Mutation_p.G75V|Y_RNA_ENST00000362528.1_RNA	NM_001282500.1|NM_003314.1	NP_001269429.1|NP_003305.1	Q99614	TTC1_HUMAN	tetratricopeptide repeat domain 1	75					protein folding (GO:0006457)	peroxisomal membrane (GO:0005778)	unfolded protein binding (GO:0051082)			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(2)|lung(1)|prostate(1)|skin(1)	12	Renal(175;0.00196)	all_hematologic(541;0.00014)|Breast(839;0.0101)|all_neural(177;0.0281)|Medulloblastoma(196;0.0425)|Lung NSC(249;0.119)|all_lung(500;0.163)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	Epithelial(171;8.37e-05)|all cancers(165;0.000694)|OV - Ovarian serous cystadenocarcinoma(192;0.0402)		GAGGAGCCAGGAGCGGACAAG	0.463																																						ENST00000231238.5																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(2)|lung(1)|prostate(1)|skin(1)	12						c.(223-225)gGa>gTa		tetratricopeptide repeat domain 1							59	57	58					5																	159437759		2203	4300	6503	SO:0001583	missense	7265				protein folding		unfolded protein binding	g.chr5:159437759G>T	U46570	CCDS4348.1	5q32-q33.2	2013-01-10			ENSG00000113312	ENSG00000113312		"Tetratricopeptide (TTC) repeat domain containing"	12391	protein-coding gene	gene with protein product		601963				8836031	Standard	NM_003314		Approved	TPR1	uc003lxu.3	Q99614	OTTHUMG00000130326	ENST00000231238.5:c.224G>T	5.37:g.159437759G>T	ENSP00000231238:p.Gly75Val					TTC1_ENST00000522793.1_Missense_Mutation_p.G75V	p.G75V	NM_003314.1	NP_003305.1	Q99614	TTC1_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	Epithelial(171;8.37e-05)|all cancers(165;0.000694)|OV - Ovarian serous cystadenocarcinoma(192;0.0402)	2	334	+	Renal(175;0.00196)	all_hematologic(541;0.00014)|Breast(839;0.0101)|all_neural(177;0.0281)|Medulloblastoma(196;0.0425)|Lung NSC(249;0.119)|all_lung(500;0.163)	75					B2RCT2|D3DQJ8|Q9BVT3	Missense_Mutation	SNP	ENST00000231238.5	37	c.224G>T	CCDS4348.1	.	.	.	.	.	.	.	.	.	.	G	6.686	0.495170	0.12762	.	.	ENSG00000113312	ENST00000231238;ENST00000522793	T;T	0.18502	2.21;2.21	5.09	4.21	0.49690	.	0.514876	0.20452	N	0.092076	T	0.14356	0.0347	L	0.46157	1.445	0.43988	D	0.99668	B	0.10296	0.003	B	0.06405	0.002	T	0.05273	-1.0895	10	0.27082	T	0.32	-2.5107	8.5084	0.33201	0.1031:0.0:0.8969:0.0	.	75	Q99614	TTC1_HUMAN	V	75	ENSP00000231238:G75V;ENSP00000429225:G75V	ENSP00000231238:G75V	G	+	2	0	TTC1	159370337	0.017000	0.18338	0.472000	0.27241	0.168000	0.22595	1.246000	0.32803	2.364000	0.80123	0.555000	0.69702	GGA		0.463	TTC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252675.3	NM_003314		5	15	1	0	1.024e-07	1	1.16006e-07	5	15					T	159437759	G	T	159437759	3	4	240	1	0	0	0	0	1	0	0	0	16675	1174	41	5	226	5	TTC1	5	159437759	Missense_Mutation	SNP	G	TCGA-HC-A4ZV-01A-11D-A26M-08	17743526	159437759	21477501	44	11206											
C5orf45	51149	broad.mit.edu	37	chr5	179264557	179264557	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acccagatgtgacggggtgtGtggcccgaggaagctggaca	9	6	17	9	2	0	2	0	1	0	1	0	5	0	4	2	5	1	1	2	5	1	0			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr5:179264557G>A	ENST00000292586.6	-	7	956	c.866C>T	c.(865-867)aCa>aTa	p.T289I	C5orf45_ENST00000523267.1_5'UTR|C5orf45_ENST00000523084.1_Missense_Mutation_p.T155I|C5orf45_ENST00000376931.2_Missense_Mutation_p.T234I|C5orf45_ENST00000518219.1_3'UTR|C5orf45_ENST00000520698.1_Intron|C5orf45_ENST00000403396.2_Intron|SQSTM1_ENST00000389805.4_3'UTR|C5orf45_ENST00000518235.1_Intron|SQSTM1_ENST00000376929.3_3'UTR	NM_016175.3	NP_057259.2	Q6NTE8	CE045_HUMAN	chromosome 5 open reading frame 45	289										breast(2)|endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	12						GACGGGGTGTGTGGCCCGAGG	0.662																																						ENST00000292586.6																			0				breast(2)|endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	12						c.(865-867)aCa>aTa		chromosome 5 open reading frame 45							84	87	86					5																	179264557		2203	4300	6503	SO:0001583	missense	51149							g.chr5:179264557G>A		CCDS34318.1, CCDS34319.1	5q35.3	2008-07-10			ENSG00000161010	ENSG00000161010			30817	protein-coding gene	gene with protein product	"truncated calcium binding protein"						Standard	NM_016175		Approved	MGC65027, MGC78537, DKFZp686L2452, LOC51149	uc003mla.3	Q6NTE8	OTTHUMG00000163490	ENST00000292586.6:c.866C>T	5.37:g.179264557G>A	ENSP00000292586:p.Thr289Ile					C5orf45_ENST00000523267.1_5'UTR|C5orf45_ENST00000403396.2_Intron|C5orf45_ENST00000523084.1_Missense_Mutation_p.T155I|C5orf45_ENST00000520698.1_Intron|SQSTM1_ENST00000389805.4_3'UTR|SQSTM1_ENST00000376929.3_3'UTR|C5orf45_ENST00000376931.2_Missense_Mutation_p.T234I|C5orf45_ENST00000518235.1_Intron|C5orf45_ENST00000518219.1_3'UTR	p.T289I	NM_016175.3	NP_057259.2	Q6NTE8	CE045_HUMAN			7	956	-			289					B5MD09|E9PAK6|Q7Z3D8|Q9BUC1|Q9UN54	Missense_Mutation	SNP	ENST00000292586.6	37	c.866C>T	CCDS34319.1	.	.	.	.	.	.	.	.	.	.	G	8.897	0.955408	0.18507	.	.	ENSG00000161010	ENST00000376931;ENST00000523084;ENST00000292586	T;T;T	0.08546	3.08;3.08;3.08	3.64	1.81	0.25067	.	1.050320	0.07479	N	0.903474	T	0.06508	0.0167	L	0.35414	1.06	0.09310	N	0.999999	B;B	0.33318	0.408;0.408	B;B	0.27076	0.076;0.076	T	0.38779	-0.9645	10	0.45353	T	0.12	0.019	5.3946	0.16263	0.2677:0.0:0.7323:0.0	.	234;289	E9PAK6;Q6NTE8	.;CE045_HUMAN	I	234;155;289	ENSP00000366130:T234I;ENSP00000429107:T155I;ENSP00000292586:T289I	ENSP00000292586:T289I	T	-	2	0	C5orf45	179197163	0.001000	0.12720	0.001000	0.08648	0.032000	0.12392	0.859000	0.27858	0.501000	0.28013	0.491000	0.48974	ACA		0.662	C5orf45-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000373760.2	NM_016175		34	66	0	0	0	1	0	34	66					A	179264557	G	A	179264557	3	1	240	1	0	0	0	0	1	0	0	0	2304	1377	48	3	169	3	C5orf45	5	179264557	Missense_Mutation	SNP	G	TCGA-HC-A4ZV-01A-11D-A26M-08	19826798	179264557	1650703	45	11207											
RNF8	9025	broad.mit.edu	37	chr6	37336834	37336834	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aaaacatgaagccgttatgaAtgtgaaaaagcagacccaaa	20	6	8	7	1	0	4	0	3	0	1	0	4	0	4	2	0	3	2	2	0	8	1			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr6:37336834A>G	ENST00000373479.4	+	3	1008	c.815A>G	c.(814-816)aAt>aGt	p.N272S	RNF8_ENST00000469731.1_Missense_Mutation_p.N272S|RNF8_ENST00000479516.1_3'UTR	NM_003958.3|NM_183078.2	NP_003949.1|NP_898901.1	O76064	RNF8_HUMAN	ring finger protein 8, E3 ubiquitin protein ligase	272					cellular response to DNA damage stimulus (GO:0006974)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|histone exchange (GO:0043486)|histone H2A K63-linked ubiquitination (GO:0070535)|histone H2A ubiquitination (GO:0033522)|histone H2B ubiquitination (GO:0033523)|interstrand cross-link repair (GO:0036297)|isotype switching (GO:0045190)|mitotic nuclear division (GO:0007067)|negative regulation of translational elongation (GO:0045900)|positive regulation of DNA repair (GO:0045739)|protein autoubiquitination (GO:0051865)|protein K48-linked ubiquitination (GO:0070936)|protein K63-linked ubiquitination (GO:0070534)|response to ionizing radiation (GO:0010212)|spermatid development (GO:0007286)|ubiquitin-dependent protein catabolic process (GO:0006511)	chromosome, telomeric region (GO:0000781)|nucleolus (GO:0005730)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)|ubiquitin ligase complex (GO:0000151)	acid-amino acid ligase activity (GO:0016881)|chromatin binding (GO:0003682)|histone binding (GO:0042393)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1)	13						GCCGTTATGAATGTGAAAAAG	0.453																																						ENST00000373479.4																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1)	13						c.(814-816)aAt>aGt		ring finger protein 8, E3 ubiquitin protein ligase							76	79	78					6																	37336834		2203	4300	6503	SO:0001583	missense	9025				cell division|double-strand break repair|histone H2A ubiquitination|histone H2B ubiquitination|mitosis|positive regulation of DNA repair|response to ionizing radiation	midbody|nucleus|ubiquitin ligase complex	chromatin binding|histone binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr6:37336834A>G	AB012770	CCDS4833.1, CCDS4834.1	6p21.3	2013-01-09	2012-02-23		ENSG00000112130	ENSG00000112130		"RING-type (C3HC4) zinc fingers"	10071	protein-coding gene	gene with protein product		611685	"ring finger protein (C3HC4 type) 8", "ring finger protein 8"			9734811, 9852682	Standard	NM_003958		Approved	KIAA0646	uc003onq.4	O76064	OTTHUMG00000014620	ENST00000373479.4:c.815A>G	6.37:g.37336834A>G	ENSP00000362578:p.Asn272Ser					RNF8_ENST00000479516.1_3'UTR|RNF8_ENST00000469731.1_Missense_Mutation_p.N272S	p.N272S	NM_003958.3|NM_183078.2	NP_003949.1|NP_898901.1	O76064	RNF8_HUMAN			3	1008	+			272					A6NN24|A8MYC0|B4DPG0|Q53H16|Q5NKW5	Missense_Mutation	SNP	ENST00000373479.4	37	c.815A>G	CCDS4834.1	.	.	.	.	.	.	.	.	.	.	A	10.65	1.410994	0.25465	.	.	ENSG00000112130	ENST00000373479;ENST00000469731	D;T	0.82081	-1.57;0.97	6.07	2.24	0.28232	.	0.551133	0.19869	N	0.104255	T	0.55689	0.1936	L	0.39397	1.21	0.80722	D	1	B	0.17852	0.024	B	0.12837	0.008	T	0.50833	-0.8781	10	0.16896	T	0.51	-3.324	6.5867	0.22624	0.632:0.2158:0.1521:0.0	.	272	O76064	RNF8_HUMAN	S	272	ENSP00000362578:N272S;ENSP00000418879:N272S	ENSP00000362578:N272S	N	+	2	0	RNF8	37444812	0.341000	0.24801	1.000000	0.80357	0.693000	0.40251	0.461000	0.21940	1.123000	0.41961	0.533000	0.62120	AAT		0.453	RNF8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040403.2			11	30	0	0	0	1	0	11	30					G	37336834	A	G	37336834	3	3	240	1	0	0	0	0	1	0	0	0	13500	101	4	4	825	4	RNF8	6	37336834	Missense_Mutation	SNP	A	TCGA-HC-A4ZV-01A-11D-A26M-08		37336834	133778233	46	11208											
MYO6	4646	broad.mit.edu	37	chr6	76599811	76599811	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggaacaaatccagaaagaatAtgatgcactggttaaaagct	18	8	9	6	0	0	3	0	1	0	2	1	4	1	4	1	2	3	3	1	2	7	2	rs370750657		TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr6:76599811A>G	ENST00000369977.3	+	26	2835	c.2696A>G	c.(2695-2697)tAt>tGt	p.Y899C	MYO6_ENST00000369981.3_Missense_Mutation_p.Y899C|MYO6_ENST00000369975.1_Missense_Mutation_p.Y899C|MYO6_ENST00000369985.4_Missense_Mutation_p.Y899C	NM_004999.3	NP_004990.3	Q9UM54	MYO6_HUMAN	myosin VI	899					actin filament-based movement (GO:0030048)|auditory receptor cell differentiation (GO:0042491)|cellular response to electrical stimulus (GO:0071257)|dendrite development (GO:0016358)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|endocytosis (GO:0006897)|glutamate secretion (GO:0014047)|inner ear morphogenesis (GO:0042472)|intracellular protein transport (GO:0006886)|locomotory behavior (GO:0007626)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein targeting (GO:0006605)|regulation of secretion (GO:0051046)|regulation of synaptic plasticity (GO:0048167)|response to drug (GO:0042493)|sensory perception of sound (GO:0007605)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	apical part of cell (GO:0045177)|axon (GO:0030424)|cell cortex (GO:0005938)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|endocytic vesicle (GO:0030139)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|microvillus (GO:0005902)|neuronal cell body (GO:0043025)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|ruffle membrane (GO:0032587)|unconventional myosin complex (GO:0016461)|vesicle membrane (GO:0012506)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|minus-end directed microfilament motor activity (GO:0060001)|motor activity (GO:0003774)			breast(2)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(16)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	58		all_hematologic(105;0.189)		BRCA - Breast invasive adenocarcinoma(397;0.223)		CAGAAAGAATATGATGCACTG	0.368																																						ENST00000369981.3																			0				breast(2)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(16)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						c.(2695-2697)tAt>tGt		myosin VI		A	CYS/TYR	1,4405	2.1+/-5.4	0,1,2202	83	90	87		2696	5.8	1	6		87	0,8600		0,0,4300	no	missense	MYO6	NM_004999.3	194	0,1,6502	GG,GA,AA		0.0,0.0227,0.0077	probably-damaging	899/1286	76599811	1,13005	2203	4300	6503	SO:0001583	missense	4646				actin filament-based movement|DNA damage response, signal transduction by p53 class mediator|endocytosis|intracellular protein transport|positive regulation of transcription from RNA polymerase II promoter|regulation of secretion|sensory perception of sound|synaptic transmission	cell cortex|clathrin coated vesicle membrane|coated pit|cytosol|DNA-directed RNA polymerase II, holoenzyme|filamentous actin|Golgi apparatus|nuclear membrane|perinuclear region of cytoplasm|ruffle membrane|unconventional myosin complex	actin filament binding|ADP binding|ATP binding|calmodulin binding|minus-end directed microfilament motor activity|protein binding	g.chr6:76599811A>G	U90236, AB002387	CCDS34487.1, CCDS75481.1	6q14.1	2014-09-17	2004-05-19		ENSG00000196586	ENSG00000196586		"Myosins / Myosin superfamily : Class VI"	7605	protein-coding gene	gene with protein product		600970	"deafness, autosomal recessive 37"	DFNA22, DFNB37		9259267, 11468689	Standard	XM_005248719		Approved	KIAA0389	uc003pih.1	Q9UM54	OTTHUMG00000015061	ENST00000369977.3:c.2696A>G	6.37:g.76599811A>G	ENSP00000358994:p.Tyr899Cys					MYO6_ENST00000369977.3_Missense_Mutation_p.Y899C|MYO6_ENST00000369975.1_Missense_Mutation_p.Y899C|MYO6_ENST00000369985.4_Missense_Mutation_p.Y899C	p.Y899C			Q9UM54	MYO6_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.223)	26	2975	+		all_hematologic(105;0.189)	899					A6H8V4|E1P540|Q5TEM5|Q5TEM6|Q5TEM7|Q9BZZ7|Q9UEG2	Missense_Mutation	SNP	ENST00000369977.3	37	c.2696A>G	CCDS34487.1	.	.	.	.	.	.	.	.	.	.	A	18.34	3.602854	0.66445	2.27E-4	0.0	ENSG00000196586	ENST00000428345;ENST00000369981;ENST00000369985;ENST00000369977;ENST00000369975	T;D;T;T	0.89343	2.2;-2.5;2.2;2.2	5.84	5.84	0.93424	.	0.126220	0.56097	D	0.000036	D	0.91653	0.7362	L	0.54323	1.7	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.81914	0.983;0.995	D	0.92304	0.5852	10	0.56958	D	0.05	.	16.216	0.82217	1.0:0.0:0.0:0.0	.	899;899	Q9UM54-2;Q9UM54-1	.;.	C	899	ENSP00000358998:Y899C;ENSP00000359002:Y899C;ENSP00000358994:Y899C;ENSP00000358992:Y899C	ENSP00000358992:Y899C	Y	+	2	0	MYO6	76656531	1.000000	0.71417	0.999000	0.59377	0.647000	0.38526	8.097000	0.89539	2.228000	0.72767	0.482000	0.46254	TAT		0.368	MYO6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041279.2	NM_004999		3	48	0	0	0	1	0	3	48					G	76599811	A	G	76599811	3	3	240	1	0	0	0	0	1	0	0	0	10081	449	16	4	2794	4	MYO6	6	76599811	Missense_Mutation	SNP	A	TCGA-HC-A4ZV-01A-11D-A26M-08	39262977	76599811	94515256	47	11209											
TAAR5	9038	broad.mit.edu	37	chr6	132910499	132910499	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agggtgtccaggtaggtgtgCaggcggcagaggaagtcccc	8	6	18	9	1	0	1	0	0	0	1	2	2	2	2	3	6	1	3	3	6	2	1			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr6:132910499C>T	ENST00000258034.2	-	1	378	c.327G>A	c.(325-327)ctG>ctA	p.L109L		NM_003967.2	NP_003958.2	O14804	TAAR5_HUMAN	trace amine associated receptor 5	109					G-protein coupled receptor signaling pathway (GO:0007186)|sensory perception of chemical stimulus (GO:0007606)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)|trimethylamine receptor activity (GO:1990081)			breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	32	Breast(56;0.112)			OV - Ovarian serous cystadenocarcinoma(155;0.00604)|GBM - Glioblastoma multiforme(226;0.015)		GGTAGGTGTGCAGGCGGCAGA	0.582																																						ENST00000258034.2																			0				breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	32						c.(325-327)ctG>ctA		trace amine associated receptor 5							139	147	144					6																	132910499		2203	4300	6503	SO:0001819	synonymous_variant	9038				synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity	g.chr6:132910499C>T	AF021818	CCDS5156.1	6q23.2	2012-08-08			ENSG00000135569	ENSG00000135569		"GPCR / Class A : Trace amine associated receptors"	30236	protein-coding gene	gene with protein product		607405				9464258, 15718104	Standard	NM_003967		Approved	PNR	uc003qdk.2	O14804	OTTHUMG00000015581	ENST00000258034.2:c.327G>A	6.37:g.132910499C>T							p.L109L	NM_003967.2	NP_003958.2	O14804	TAAR5_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.00604)|GBM - Glioblastoma multiforme(226;0.015)	1	378	-	Breast(56;0.112)		109					D8KZS1|Q2M1V1|Q4VBL1|Q5VUQ3|Q6NTA8	Silent	SNP	ENST00000258034.2	37	c.327G>A	CCDS5156.1																																																																																				0.582	TAAR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042257.1	NM_003967		25	75	0	0	0	1	0	25	75					T	132910499	C	T	132910499	2	4	240	1	0	0	0	0	0	0	0	1	15488	697	25	3		3	TAAR5	6	132910499	Silent	SNP	C	TCGA-HC-A4ZV-01A-11D-A26M-08	56310688	132910499	38204568	48	11210											
KIAA1244	57221	broad.mit.edu	37	chr6	138655654	138655654	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tgcccttgctcagcgtccagCctgtcagcaacgcagattgg	7	9	11	14	2	2	1	2	0	0	1	3	1	3	1	3	1	6	3	3	1	1	2			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr6:138655654C>T	ENST00000251691.4	+	33	5837	c.5671C>T	c.(5671-5673)Cct>Tct	p.P1891S		NM_020340.4	NP_065073.3			KIAA1244											NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2)	44	Breast(32;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)		CAGCGTCCAGCCTGTCAGCAA	0.572																																						ENST00000251691.4																			0				NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2)	44						c.(5671-5673)Cct>Tct		KIAA1244							37	36	37					6																	138655654		2203	4300	6503	SO:0001583	missense	57221				regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity	g.chr6:138655654C>T	AB033070	CCDS5189.2	6q23.3	2012-04-17			ENSG00000112379	ENSG00000112379		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	21213	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 33"		"chromosome 6 open reading frame 92"	C6orf92			Standard	NM_020340		Approved	dJ171N11.1, BIG3, PPP1R33	uc003qhu.3	Q5TH69	OTTHUMG00000015670	ENST00000251691.4:c.5671C>T	6.37:g.138655654C>T	ENSP00000251691:p.Pro1891Ser						p.P1891S	NM_020340.4	NP_065073.3	Q5TH69	BIG3_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)	33	5837	+	Breast(32;0.135)		1891						Missense_Mutation	SNP	ENST00000251691.4	37	c.5671C>T	CCDS5189.2	.	.	.	.	.	.	.	.	.	.	C	19.53	3.844972	0.71603	.	.	ENSG00000112379	ENST00000251691;ENST00000367706	T	0.36157	1.27	5.61	5.61	0.85477	.	0.175820	0.51477	D	0.000100	T	0.46718	0.1407	L	0.40543	1.245	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.41378	-0.9512	10	0.56958	D	0.05	-35.5044	19.624	0.95671	0.0:1.0:0.0:0.0	.	1891	Q5TH69	BIG3_HUMAN	S	1891;56	ENSP00000251691:P1891S	ENSP00000251691:P1891S	P	+	1	0	KIAA1244	138697347	1.000000	0.71417	0.998000	0.56505	0.339000	0.28857	7.612000	0.82975	2.638000	0.89438	0.411000	0.27672	CCT		0.572	KIAA1244-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042425.4	NM_020340		9	13	0	0	0	1	0	9	13					T	138655654	C	T	138655654	3	4	240	1	0	0	0	0	1	0	0	0	8217	739	26	3	5801	3	KIAA1244	6	138655654	Missense_Mutation	SNP	C	TCGA-HC-A4ZV-01A-11D-A26M-08	5745155	138655654	32459413	49	11211											
ZDHHC14	79683	broad.mit.edu	37	chr6	157803172	157803172	+	Frame_Shift_Del	DEL	G	G	-																															aatcgcggcccggaggaaatGggaggtgttcccgggaagaa																										TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr6:157803172delG	ENST00000359775.5	+	1	1008	c.119delG	c.(118-120)tggfs	p.W40fs	ZDHHC14_ENST00000414563.2_Frame_Shift_Del_p.W40fs			Q8IZN3	ZDH14_HUMAN	zinc finger, DHHC-type containing 14	40					protein palmitoylation (GO:0018345)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(8)|ovary(1)|skin(1)	17		Breast(66;0.00586)|Ovarian(120;0.123)		OV - Ovarian serous cystadenocarcinoma(65;2.9e-17)|BRCA - Breast invasive adenocarcinoma(81;5.8e-05)		CGGAGGAAATGGGAGGTGTTC	0.587																																						ENST00000359775.5																			0				central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(8)|ovary(1)|skin(1)	17						c.(118-120)tgfs		zinc finger, DHHC-type containing 14							47	49	48					6																	157803172		2203	4296	6499	SO:0001589	frameshift_variant	79683					integral to membrane	acyltransferase activity|zinc ion binding	g.chr6:157803172delG	AF542388	CCDS5252.1, CCDS47510.1	6q25.3	2008-05-02			ENSG00000175048	ENSG00000175048		"Zinc fingers, DHHC-type"	20341	protein-coding gene	gene with protein product							Standard	NM_024630		Approved	FLJ20984, NEW1CP	uc003qqt.3	Q8IZN3	OTTHUMG00000015896	ENST00000359775.5:c.119delG	6.37:g.157803172delG	ENSP00000352821:p.Trp40fs					ZDHHC14_ENST00000414563.2_Frame_Shift_Del_p.W40fs	p.W40fs			Q8IZN3	ZDH14_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.9e-17)|BRCA - Breast invasive adenocarcinoma(81;5.8e-05)	1	1008	+		Breast(66;0.00586)|Ovarian(120;0.123)	40					A6NDB7|Q5JS07|Q5JS08|Q6PHS4|Q8IZN2|Q9H7F1	Frame_Shift_Del	DEL	ENST00000359775.5	37	c.119delG	CCDS5252.1																																																																																				0.587	ZDHHC14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042841.2	NM_153746		7	12						7	12	---	---	---	---	-	157803172	G	-	157803172	7	5	240	1	0	1	0	1	0	0	0	0	17601	1357	47	0	121	0	ZDHHC14	6	157803172	Frame_Shift_Del	DEL	G	TCGA-HC-A4ZV-01A-11D-A26M-08	19147518	157803172	13311895	50	11212											
DYNLT1	6993	broad.mit.edu	37	chr6	159057917	159057917	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggtcttattctcccatcgcAcagtgcagctccctgcggga	6	11	10	14	2	2	0	0	0	2	0	5	1	3	1	2	2	3	3	2	2	1	2			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr6:159057917A>C	ENST00000367089.3	-	5	314	c.284T>G	c.(283-285)gTg>gGg	p.V95G	DYNLT1_ENST00000367088.1_3'UTR	NM_006519.2	NP_006510.1	P63172	DYLT1_HUMAN	dynein, light chain, Tctex-type 1	95	Interaction with GNB1. {ECO:0000250}.				establishment of mitotic spindle orientation (GO:0000132)|intracellular transport of viral protein in host cell (GO:0019060)|microtubule-dependent intracellular transport of viral material towards nucleus (GO:0075521)|mitotic nuclear division (GO:0007067)|negative regulation of neurogenesis (GO:0050768)|neuron projection morphogenesis (GO:0048812)|regulation of cytoskeleton organization (GO:0051493)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of Rac GTPase activity (GO:0032314)|viral entry into host cell (GO:0046718)	cytoplasmic dynein complex (GO:0005868)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)	identical protein binding (GO:0042802)|motor activity (GO:0003774)			lung(2)	2		Breast(66;0.00519)|Ovarian(120;0.123)		OV - Ovarian serous cystadenocarcinoma(65;4.02e-18)|BRCA - Breast invasive adenocarcinoma(81;9.53e-06)		CTCCCATCGCACAGTGCAGCT	0.512																																						ENST00000367089.3																			0				lung(2)	2						c.(283-285)gTg>gGg		dynein, light chain, Tctex-type 1							61	48	53					6																	159057917		2203	4300	6503	SO:0001583	missense	6993				cell division|establishment of mitotic spindle orientation|intracellular transport of viral proteins in host cell|mitosis|negative regulation of neurogenesis|regulation of G-protein coupled receptor protein signaling pathway	cytoplasmic dynein complex|Golgi apparatus|microtubule|spindle	identical protein binding|motor activity	g.chr6:159057917A>C	D50663	CCDS5257.1	6q25.2-q25.3	2008-02-05	2005-11-24	2005-11-24	ENSG00000146425	ENSG00000146425		"Cytoplasmic dyneins"	11697	protein-coding gene	gene with protein product		601554	"t-complex-associated-testis-expressed 1-like 1"	TCTEL1		8646886, 16260502	Standard	XM_005267117		Approved		uc003qrn.2	P63172	OTTHUMG00000015918	ENST00000367089.3:c.284T>G	6.37:g.159057917A>C	ENSP00000356056:p.Val95Gly					DYNLT1_ENST00000367088.1_3'UTR	p.V95G	NM_006519.2	NP_006510.1	P63172	DYLT1_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;4.02e-18)|BRCA - Breast invasive adenocarcinoma(81;9.53e-06)	5	314	-		Breast(66;0.00519)|Ovarian(120;0.123)	95			Interaction with GNB1 (By similarity).		Q15763|Q5VTU4	Missense_Mutation	SNP	ENST00000367089.3	37	c.284T>G	CCDS5257.1	.	.	.	.	.	.	.	.	.	.	A	24.3	4.514234	0.85389	.	.	ENSG00000146425	ENST00000367089	T	0.32753	1.44	5.1	5.1	0.69264	.	0.000000	0.85682	D	0.000000	T	0.53029	0.1771	M	0.93550	3.43	0.80722	D	1	P	0.42556	0.783	P	0.57371	0.819	T	0.59841	-0.7378	10	0.34782	T	0.22	-15.5635	15.2016	0.73142	1.0:0.0:0.0:0.0	.	95	P63172	DYLT1_HUMAN	G	95	ENSP00000356056:V95G	ENSP00000356056:V95G	V	-	2	0	DYNLT1	158977905	1.000000	0.71417	0.961000	0.40146	0.994000	0.84299	6.915000	0.75770	2.048000	0.60808	0.528000	0.53228	GTG		0.512	DYNLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042881.1	NM_006519		3	17	0	0	0	1	0	3	17					C	159057917	A	C	159057917	3	2	240	1	0	0	0	0	1	0	0	0	4852	159	6	5	61	5	DYNLT1	6	159057917	Missense_Mutation	SNP	A	TCGA-HC-A4ZV-01A-11D-A26M-08	1254745	159057917	12057150	51	11213											
PSMG3	84262	broad.mit.edu	37	chr7	1608783	1608783	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atcctgccccagaaggacttTtgtggtgagcacaggcttgc	8	10	12	11	0	0	2	0	1	0	1	1	3	1	3	3	3	3	2	3	3	1	3			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr7:1608783T>C	ENST00000288607.2	-	1	846	c.193A>G	c.(193-195)Aaa>Gaa	p.K65E	PSMG3_ENST00000404674.3_Missense_Mutation_p.K65E|PSMG3_ENST00000252329.3_Missense_Mutation_p.K65E|PSMG3-AS1_ENST00000437621.2_lincRNA	NM_032302.3	NP_115678.1	Q9BT73	PSMG3_HUMAN	proteasome (prosome, macropain) assembly chaperone 3	65										lung(2)	2		Ovarian(82;0.11)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;5.63e-15)		AGAAGGACTTTTGTGGTGAGC	0.602																																						ENST00000288607.2																			0				lung(2)	2						c.(193-195)Aaa>Gaa		proteasome (prosome, macropain) assembly chaperone 3							72	71	72					7																	1608783		2201	4294	6495	SO:0001583	missense	84262							g.chr7:1608783T>C	BC027171	CCDS5327.1	7p22.3	2010-07-07	2007-08-16	2007-08-16	ENSG00000157778	ENSG00000157778			22420	protein-coding gene	gene with protein product			"chromosome 7 open reading frame 48"	C7orf48		17189198	Standard	NM_032302		Approved	MGC10911, PAC3	uc011jvx.1	Q9BT73	OTTHUMG00000119043	ENST00000288607.2:c.193A>G	7.37:g.1608783T>C	ENSP00000288607:p.Lys65Glu					PSMG3_ENST00000252329.3_Missense_Mutation_p.K65E|PSMG3_ENST00000404674.3_Missense_Mutation_p.K65E	p.K65E	NM_032302.3	NP_115678.1	Q9BT73	PSMG3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;5.63e-15)	1	846	-		Ovarian(82;0.11)	65					A4D216|A8MPW2	Missense_Mutation	SNP	ENST00000288607.2	37	c.193A>G	CCDS5327.1	.	.	.	.	.	.	.	.	.	.	T	13.65	2.301177	0.40694	.	.	ENSG00000157778	ENST00000288607;ENST00000404674;ENST00000252329	.	.	.	5.43	2.85	0.33270	.	0.251894	0.44285	D	0.000462	T	0.53899	0.1825	M	0.77103	2.36	0.33466	D	0.585617	P	0.36125	0.538	B	0.37047	0.24	T	0.68864	-0.5296	9	0.59425	D	0.04	-7.6194	12.1107	0.53838	0.0:0.0:0.2709:0.7291	.	65	Q9BT73	PSMG3_HUMAN	E	65	.	ENSP00000252329:K65E	K	-	1	0	PSMG3	1575309	1.000000	0.71417	0.031000	0.17742	0.190000	0.23558	4.429000	0.59901	0.851000	0.35264	0.460000	0.39030	AAA		0.602	PSMG3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000239254.2	NM_032302		19	24	0	0	0	1	0	19	24					C	1608783	T	C	1608783	3	2	240	1	0	0	0	0	1	0	0	0	12713	1850	64	4	183	4	PSMG3	7	1608783	Missense_Mutation	SNP	T	TCGA-HC-A4ZV-01A-11D-A26M-08		1608783	157529880	52	11214											
HOXA10	3206	broad.mit.edu	37	chr7	27213231	27213231	+	Frame_Shift_Del	DEL	C	C	-																															cagccccgagttgctgcgcgCcgccgccgccgctgccatag																										TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr7:27213231delC	ENST00000283921.4	-	1	694	c.695delG	c.(694-696)ggcfs	p.G232fs	RP1-170O19.20_ENST00000470747.4_Intron|HOXA-AS4_ENST00000519935.1_RNA|HOXA10_ENST00000396344.4_Intron|HOXA-AS4_ENST00000519694.1_RNA|HOXA10_ENST00000521421.1_5'Flank|HOXA-AS4_ENST00000523790.1_RNA|RP1-170O19.20_ENST00000465941.1_Intron	NM_018951.3	NP_061824.3	P31260	HXA10_HUMAN	homeobox A10	232	Poly-Gly.				anterior/posterior pattern specification (GO:0009952)|embryonic limb morphogenesis (GO:0030326)|male gonad development (GO:0008584)|multicellular organismal development (GO:0007275)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proximal/distal pattern formation (GO:0009954)|single fertilization (GO:0007338)|skeletal system development (GO:0001501)|spermatogenesis (GO:0007283)|uterus development (GO:0060065)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	histone deacetylase binding (GO:0042826)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			breast(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	9						TTGCTGCGCGCCGCCGCCGCC	0.766																																						ENST00000283921.4																			0				breast(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	9						c.(694-696)gcfs		homeobox A10							1	1	1					7																	27213231		1038	2154	3192	SO:0001589	frameshift_variant	3206				spermatogenesis		protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:27213231delC		CCDS5410.2	7p15.2	2011-06-20	2005-12-22		ENSG00000253293	ENSG00000253293		"Homeoboxes / ANTP class : HOXL subclass"	5100	protein-coding gene	gene with protein product		142957	"homeo box A10"	HOX1H, HOX1		1973146, 1358459	Standard	NR_037939		Approved		uc011jzm.2	P31260	OTTHUMG00000023436	ENST00000283921.4:c.695delG	7.37:g.27213231delC	ENSP00000283921:p.Gly232fs					RP1-170O19.20_ENST00000470747.4_Intron|HOXA10_ENST00000396344.4_Intron|RP1-170O19.20_ENST00000465941.1_Intron	p.G232fs	NM_018951.3	NP_061824.3	P31260	HXA10_HUMAN			1	694	-			232			Poly-Gly.		O43370|O43605|Q15949|Q504T1	Frame_Shift_Del	DEL	ENST00000283921.4	37	c.695delG	CCDS5410.2																																																																																				0.766	HOXA10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000358724.2			2	4						2	4	---	---	---	---	-	27213231	C	-	27213231	7	5	240	1	0	1	0	1	0	0	0	0	7289	739	26	0	545	0	HOXA10	7	27213231	Frame_Shift_Del	DEL	C	TCGA-HC-A4ZV-01A-11D-A26M-08	25604448	27213231	131925432	53	11215											
AVL9	23080	broad.mit.edu	37	chr7	32591878	32591878	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gaatagttccttgggaggtgCttcattagaaggatcccaag	11	11	12	7	0	1	1	1	0	0	1	3	4	3	3	2	3	1	2	2	3	5	5			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr7:32591878C>T	ENST00000318709.4	+	6	721	c.500C>T	c.(499-501)gCt>gTt	p.A167V	AVL9_ENST00000409301.1_Missense_Mutation_p.A167V|AVL9_ENST00000404479.1_Missense_Mutation_p.A167V	NM_015060.1	NP_055875.1	Q8NBF6	AVL9_HUMAN	AVL9 homolog (S. cerevisiase)	167					cell migration (GO:0016477)	integral component of membrane (GO:0016021)|recycling endosome (GO:0055037)				endometrium(3)|kidney(1)|large_intestine(3)|lung(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						TTGGGAGGTGCTTCATTAGAA	0.313																																						ENST00000318709.4																			0				endometrium(3)|kidney(1)|large_intestine(3)|lung(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						c.(499-501)gCt>gTt		AVL9 homolog (S. cerevisiase)							47	49	49					7																	32591878		2203	4298	6501	SO:0001583	missense	23080					integral to membrane		g.chr7:32591878C>T	D87682	CCDS34613.1	7p14.3	2013-05-01	2008-10-03	2008-10-03	ENSG00000105778	ENSG00000105778			28994	protein-coding gene	gene with protein product		612927	"KIAA0241"	KIAA0241		17229886, 22595670	Standard	XM_005249668		Approved		uc003tcv.1	Q8NBF6	OTTHUMG00000152929	ENST00000318709.4:c.500C>T	7.37:g.32591878C>T	ENSP00000315568:p.Ala167Val					AVL9_ENST00000409301.1_Missense_Mutation_p.A167V|AVL9_ENST00000404479.1_Missense_Mutation_p.A167V	p.A167V	NM_015060.1	NP_055875.1	Q8NBF6	AVL9_HUMAN			6	721	+			167					Q92573	Missense_Mutation	SNP	ENST00000318709.4	37	c.500C>T	CCDS34613.1	.	.	.	.	.	.	.	.	.	.	C	14.28	2.487064	0.44249	.	.	ENSG00000105778	ENST00000318709;ENST00000409301;ENST00000329714;ENST00000404479;ENST00000446718	T;T;T;T	0.43294	0.95;0.95;0.95;0.95	5.65	4.75	0.60458	.	0.449637	0.26800	N	0.022431	T	0.30665	0.0772	N	0.20685	0.6	0.27608	N	0.948765	B;B;B	0.15141	0.012;0.003;0.012	B;B;B	0.24701	0.055;0.016;0.055	T	0.13737	-1.0498	9	.	.	.	-9.5758	15.4351	0.75140	0.0:0.6102:0.3898:0.0	.	167;167;167	Q8N6Z3;Q8NBF6-2;Q8NBF6	.;.;AVL9_HUMAN	V	167;167;167;167;98	ENSP00000315568:A167V;ENSP00000387011:A167V;ENSP00000385242:A167V;ENSP00000395134:A98V	.	A	+	2	0	AVL9	32558403	0.904000	0.30761	0.998000	0.56505	0.963000	0.63663	1.708000	0.37899	1.468000	0.48064	0.650000	0.86243	GCT		0.313	AVL9-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328643.1	NM_015060		3	16	0	0	0	1	0	3	16					T	32591878	C	T	32591878	3	4	240	1	0	0	0	0	1	0	0	0	1228	797	28	3	522	3	AVL9	7	32591878	Missense_Mutation	SNP	C	TCGA-HC-A4ZV-01A-11D-A26M-08	5378647	32591878	126546785	54	11216											
ABCA13	154664	broad.mit.edu	37	chr7	48266865	48266865	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttttcccatcagatggatCtcaataagaccgaggaggta	12	12	9	8	1	2	2	2	0	1	2	4	5	3	4	2	3	0	1	2	3	3	5			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr7:48266865C>A	ENST00000435803.1	+	6	499	c.475C>A	c.(475-477)Ctc>Atc	p.L159I		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	159					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						TCAGATGGATCTCAATAAGAC	0.388																																						ENST00000435803.1																			0				breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						c.(475-477)Ctc>Atc		ATP-binding cassette, sub-family A (ABC1), member 13							128	122	124					7																	48266865		1814	4085	5899	SO:0001583	missense	154664				transport	integral to membrane	ATP binding|ATPase activity	g.chr7:48266865C>A	AY204751	CCDS47584.1	7p12.3	2012-03-14			ENSG00000179869	ENSG00000179869		"ATP binding cassette transporters / subfamily A"	14638	protein-coding gene	gene with protein product		607807				12697998	Standard	NM_152701		Approved	FLJ33876, FLJ33951	uc003toq.2	Q86UQ4	OTTHUMG00000155840	ENST00000435803.1:c.475C>A	7.37:g.48266865C>A	ENSP00000411096:p.Leu159Ile						p.L159I	NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN			6	499	+			159					K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Missense_Mutation	SNP	ENST00000435803.1	37	c.475C>A	CCDS47584.1	.	.	.	.	.	.	.	.	.	.	C	15.32	2.797966	0.50208	.	.	ENSG00000179869	ENST00000435803	T	0.32515	1.45	5.55	5.55	0.83447	.	0.000000	0.38959	N	0.001518	T	0.51312	0.1667	M	0.61703	1.905	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.85130	0.991;0.997	T	0.36335	-0.9752	10	0.26408	T	0.33	.	15.0079	0.71527	0.0:1.0:0.0:0.0	.	159;159	Q86UQ4;Q86UQ4-2	ABCAD_HUMAN;.	I	159	ENSP00000411096:L159I	ENSP00000409268:L159I	L	+	1	0	ABCA13	48237411	1.000000	0.71417	0.945000	0.38365	0.155000	0.21991	1.620000	0.36976	2.591000	0.87537	0.557000	0.71058	CTC		0.388	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341964.2	NM_152701		4	75	1	0	0.217242	1	0.218592	4	75					A	48266865	C	A	48266865	3	1	240	1	0	0	0	0	1	0	0	0	31	913	32	5	326	5	ABCA13	7	48266865	Missense_Mutation	SNP	C	TCGA-HC-A4ZV-01A-11D-A26M-08	15674987	48266865	110871798	55	11217											
ZNF679	168417	broad.mit.edu	37	chr7	63726659	63726659	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aattcctaccaatgtgaagaAtgcggcaaacccttcaactg	14	9	7	11	1	1	2	1	1	0	1	2	2	2	2	3	1	4	1	3	1	7	3			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr7:63726659A>T	ENST00000421025.1	+	5	917	c.648A>T	c.(646-648)gaA>gaT	p.E216D	ZNF679_ENST00000255746.4_Missense_Mutation_p.E216D	NM_001159524.1|NM_153363.2	NP_001152996.1|NP_699194.2	Q8IYX0	ZN679_HUMAN	zinc finger protein 679	216					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(2)|kidney(3)|lung(11)|skin(1)|stomach(1)	18						AATGTGAAGAATGCGGCAAAC	0.358																																						ENST00000421025.1																			0				endometrium(2)|kidney(3)|lung(11)|skin(1)|stomach(1)	18						c.(646-648)gaA>gaT		zinc finger protein 679							62	63	63					7																	63726659		692	1591	2283	SO:0001583	missense	168417				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:63726659A>T	BC033523	CCDS47592.1	7q11.21	2013-01-08			ENSG00000197123	ENSG00000197123		"Zinc fingers, C2H2-type", "-"	28650	protein-coding gene	gene with protein product	"hypothetical protein MGC42415"					12477932	Standard	NM_153363		Approved	MGC42415	uc003tsx.3	Q8IYX0	OTTHUMG00000156486	ENST00000421025.1:c.648A>T	7.37:g.63726659A>T	ENSP00000416809:p.Glu216Asp					ZNF679_ENST00000255746.4_Missense_Mutation_p.E216D	p.E216D	NM_001159524.1|NM_153363.2	NP_001152996.1|NP_699194.2	Q8IYX0	ZN679_HUMAN			5	917	+			216						Missense_Mutation	SNP	ENST00000421025.1	37	c.648A>T	CCDS47592.1	.	.	.	.	.	.	.	.	.	.	A	10.04	1.241844	0.22796	.	.	ENSG00000197123	ENST00000421025;ENST00000255746	T;T	0.07567	3.18;3.18	0.819	-1.64	0.08318	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.11836	0.0288	L	0.28014	0.82	0.09310	N	0.999998	P	0.45827	0.867	D	0.64144	0.922	T	0.30297	-0.9983	9	0.48119	T	0.1	.	4.2329	0.10611	0.663:0.337:0.0:0.0	.	216	Q8IYX0	ZN679_HUMAN	D	216	ENSP00000416809:E216D;ENSP00000255746:E216D	ENSP00000255746:E216D	E	+	3	2	ZNF679	63364094	0.000000	0.05858	0.047000	0.18901	0.047000	0.14425	-2.893000	0.00708	0.165000	0.19558	0.163000	0.16589	GAA		0.358	ZNF679-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344317.2	NM_153363		3	4	0	0	0	1	0	3	4					T	63726659	A	T	63726659	3	4	240	1	0	0	0	0	1	0	0	0	18083	98	4	5	662	5	ZNF679	7	63726659	Missense_Mutation	SNP	A	TCGA-HC-A4ZV-01A-11D-A26M-08	15459794	63726659	95412004	56	11218											
TECPR1	25851	broad.mit.edu	37	chr7	97860340	97860340	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gggctcgctcacgaagatgtCccccttgcaggtgatggacc	7	8	13	13	2	1	2	1	1	0	1	3	4	2	3	3	3	1	3	3	3	1	1			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr7:97860340C>T	ENST00000447648.2	-	15	2514	c.2215G>A	c.(2215-2217)Gac>Aac	p.D739N	TECPR1_ENST00000542604.1_Missense_Mutation_p.D669N|TECPR1_ENST00000379795.3_Missense_Mutation_p.D740N|TECPR1_ENST00000479975.1_5'Flank			Q7Z6L1	TCPR1_HUMAN	tectonin beta-propeller repeat containing 1	739					autophagic vacuole fusion (GO:0000046)|autophagy (GO:0006914)	autophagic vacuole membrane (GO:0000421)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	phosphatidylinositol-3-phosphate binding (GO:0032266)			central_nervous_system(2)|endometrium(8)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						ACGAAGATGTCCCCCTTGCAG	0.692																																						ENST00000447648.2																			0				central_nervous_system(2)|endometrium(8)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						c.(2215-2217)Gac>Aac		tectonin beta-propeller repeat containing 1							32	40	37					7																	97860340		2039	4193	6232	SO:0001583	missense	25851					integral to membrane	protein binding	g.chr7:97860340C>T		CCDS47648.1	7q21.3	2009-01-30			ENSG00000205356	ENSG00000205356			22214	protein-coding gene	gene with protein product		614781					Standard	NM_015395		Approved	DKFZP434B0335, FLJ23419, FLJ90593, KIAA1358	uc003upg.4	Q7Z6L1	OTTHUMG00000154273	ENST00000447648.2:c.2215G>A	7.37:g.97860340C>T	ENSP00000404923:p.Asp739Asn					TECPR1_ENST00000379795.3_Missense_Mutation_p.D740N|TECPR1_ENST00000542604.1_Missense_Mutation_p.D669N	p.D739N			Q7Z6L1	TCPR1_HUMAN			15	2514	-			739					A8KAD1|B3KPZ1|C9J024|F5GX57|Q96EB0|Q9P2I9|Q9UFR6	Missense_Mutation	SNP	ENST00000447648.2	37	c.2215G>A	CCDS47648.1	.	.	.	.	.	.	.	.	.	.	C	35	5.427629	0.96131	.	.	ENSG00000205356	ENST00000447648;ENST00000379795;ENST00000542604	T;T;T	0.59772	0.26;0.24;0.35	4.66	4.66	0.58398	.	0.146843	0.64402	D	0.000011	T	0.75649	0.3878	M	0.73598	2.24	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.74348	0.973;0.983	T	0.79692	-0.1697	10	0.87932	D	0	-42.454	16.9656	0.86285	0.0:1.0:0.0:0.0	.	669;739	F5GX57;Q7Z6L1	.;TCPR1_HUMAN	N	739;740;669	ENSP00000404923:D739N;ENSP00000369121:D740N;ENSP00000441121:D669N	ENSP00000369121:D740N	D	-	1	0	TECPR1	97698276	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.765000	0.85310	2.319000	0.78375	0.456000	0.33151	GAC		0.692	TECPR1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000334661.1	NM_015395		6	36	0	0	0	1	0	6	36					T	97860340	C	T	97860340	3	4	240	1	0	0	0	0	1	0	0	0	15740	855	30	3	1330	3	TECPR1	7	97860340	Missense_Mutation	SNP	C	TCGA-HC-A4ZV-01A-11D-A26M-08	34133681	97860340	61278323	57	11219											
RELN	5649	broad.mit.edu	37	chr7	103124148	103124148	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgtgtgaagtcctttggcTggtgctgggcgatgacatgc	5	13	15	8	1	0	2	0	2	0	0	1	3	1	2	1	3	2	2	1	3	1	2			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr7:103124148T>A	ENST00000428762.1	-	62	10292	c.10133A>T	c.(10132-10134)cAg>cTg	p.Q3378L	CTB-107G13.1_ENST00000422488.1_RNA|RN7SKP86_ENST00000410454.1_RNA|RELN_ENST00000343529.5_Missense_Mutation_p.Q3378L|RELN_ENST00000473945.1_5'UTR|RELN_ENST00000424685.2_Missense_Mutation_p.Q3378L	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	3378					associative learning (GO:0008306)|axon guidance (GO:0007411)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|central nervous system development (GO:0007417)|cerebral cortex tangential migration (GO:0021800)|dendrite development (GO:0016358)|glial cell differentiation (GO:0010001)|hippocampus development (GO:0021766)|lateral motor column neuron migration (GO:0097477)|layer formation in cerebral cortex (GO:0021819)|long-term memory (GO:0007616)|N-methyl-D-aspartate receptor clustering (GO:0097114)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of lateral motor column neuron migration (GO:1902078)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of TOR signaling (GO:0032008)|postsynaptic density protein 95 clustering (GO:0097119)|receptor localization to synapse (GO:0097120)|reelin-mediated signaling pathway (GO:0038026)|regulation of behavior (GO:0050795)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of synaptic transmission (GO:0050804)|response to pain (GO:0048265)|spinal cord patterning (GO:0021511)|ventral spinal cord development (GO:0021517)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	lipoprotein particle receptor binding (GO:0070325)|metal ion binding (GO:0046872)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|serine-type peptidase activity (GO:0008236)|very-low-density lipoprotein particle receptor binding (GO:0070326)			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		GTCCTTTGGCTGGTGCTGGGC	0.537																																					NSCLC(146;835 1944 15585 22231 52158)	ENST00000424685.2																			0				NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227						c.(10132-10134)cAg>cTg		reelin							274	232	247					7																	103124148		2203	4300	6503	SO:0001583	missense	5649				axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity	g.chr7:103124148T>A		CCDS34722.1, CCDS47680.1	7q22	2008-07-18			ENSG00000189056	ENSG00000189056			9957	protein-coding gene	gene with protein product		600514				9049633	Standard	NM_005045		Approved	RL, PRO1598	uc010liz.3	P78509	OTTHUMG00000157247	ENST00000428762.1:c.10133A>T	7.37:g.103124148T>A	ENSP00000392423:p.Gln3378Leu					RELN_ENST00000473945.1_5'UTR|RELN_ENST00000343529.5_Missense_Mutation_p.Q3378L|CTB-107G13.1_ENST00000422488.1_RNA|RELN_ENST00000428762.1_Missense_Mutation_p.Q3378L	p.Q3378L			P78509	RELN_HUMAN		COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)	62	10292	-			3378					A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Missense_Mutation	SNP	ENST00000428762.1	37	c.10133A>T	CCDS47680.1	.	.	.	.	.	.	.	.	.	.	T	16.24	3.068033	0.55539	.	.	ENSG00000189056	ENST00000428762;ENST00000343529;ENST00000424685;ENST00000424828;ENST00000448171	T;T;T	0.24538	1.85;1.85;1.85	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	T	0.28101	0.0693	N	0.22421	0.69	0.54753	D	0.999981	P;P	0.47409	0.841;0.895	P;P	0.53401	0.708;0.725	T	0.03008	-1.1083	10	0.11485	T	0.65	.	16.3943	0.83563	0.0:0.0:0.0:1.0	.	3378;3378	P78509-2;P78509	.;RELN_HUMAN	L	3378;3378;3378;895;3378	ENSP00000392423:Q3378L;ENSP00000345694:Q3378L;ENSP00000388446:Q3378L	ENSP00000345694:Q3378L	Q	-	2	0	RELN	102911384	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.484000	0.81180	2.281000	0.76405	0.533000	0.62120	CAG		0.537	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348148.1	NM_005045		42	154	0	0	0	1	0	42	154					A	103124148	T	A	103124148	3	1	240	1	0	0	0	0	1	0	0	0	13220	1580	55	5	265	5	RELN	7	103124148	Missense_Mutation	SNP	T	TCGA-HC-A4ZV-01A-11D-A26M-08	5263808	103124148	56014515	58	11220											
SYPL1	6856	broad.mit.edu	37	chr7	105739618	105739619	+	Frame_Shift_Ins	INS	-	-	T																															ctcacctgaatggataaccaINSaaagtagctgtaacagtttt																										TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr7:105739618_105739619insT	ENST00000011473.2	-	3	279_280	c.233_234insA	c.(232-234)tttfs	p.F78fs	SYPL1_ENST00000455385.2_Frame_Shift_Ins_p.F60fs|SYPL1_ENST00000470347.1_Frame_Shift_Ins_p.F60fs	NM_006754.3	NP_006745.1	Q16563	SYPL1_HUMAN	synaptophysin-like 1	78	MARVEL. {ECO:0000255|PROSITE- ProRule:PRU00581}.				synaptic transmission (GO:0007268)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|integral component of synaptic vesicle membrane (GO:0030285)|secretory granule (GO:0030141)	transporter activity (GO:0005215)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|prostate(1)	7						ATGGATAACCAAAAGTAGCTGT	0.351																																						ENST00000455385.2																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|prostate(1)	7						c.(178-180)tggfs		synaptophysin-like 1																																				SO:0001589	frameshift_variant	0				synaptic transmission	cytoplasmic vesicle membrane|integral to plasma membrane|melanosome|synaptic vesicle	transporter activity	g.chr7:105739618_105739619insT		CCDS5736.1, CCDS47685.1	7q22.2	2005-05-24	2005-05-24	2005-05-24	ENSG00000008282	ENSG00000008282			11507	protein-coding gene	gene with protein product			"synaptophysin-like protein"	SYPL			Standard	NM_006754		Approved		uc003vdp.4	Q16563	OTTHUMG00000157587	ENST00000011473.2:c.233_234insA	7.37:g.105739618_105739619insT	ENSP00000011473:p.Phe78fs					SYPL1_ENST00000470347.1_Frame_Shift_Ins_p.W60fs|SYPL1_ENST00000011473.2_Frame_Shift_Ins_p.W78fs	p.W60fs	NM_182715.2	NP_874384.1	Q16563	SYPL1_HUMAN			2	301_302	-			78			MARVEL.		A4D0R2|Q96AR8	Frame_Shift_Ins	INS	ENST00000011473.2	37	c.179_180insA	CCDS5736.1																																																																																				0.351	SYPL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000349221.1			13	82						13	82	---	---	---	---	T	105739619	-	T	105739618	7	5	240	1	0	1	1	0	0	0	0	0	15459	127	5	0	561	0	SYPL1	7	105739618	Frame_Shift_Ins	INS	-	TCGA-HC-A4ZV-01A-11D-A26M-08	2615470	105739618	53399045	59	11221											
CTTNBP2	83992	broad.mit.edu	37	chr7	117501355	117501355	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggatttactgagagtatccaCatcaaactcttttttctgta	11	16	6	8	0	3	1	1	1	2	1	4	3	4	2	1	1	2	2	1	1	4	7			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr7:117501355C>G	ENST00000160373.3	-	2	188	c.97G>C	c.(97-99)Gtg>Ctg	p.V33L		NM_033427.2	NP_219499.1	Q8WZ74	CTTB2_HUMAN	cortactin binding protein 2	33					brain development (GO:0007420)	cell projection (GO:0042995)|synaptic vesicle (GO:0008021)				breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83	Lung NSC(10;0.0018)|all_lung(10;0.002)			LUSC - Lung squamous cell carcinoma(290;0.133)		AGAGTATCCACATCAAACTCT	0.458																																						ENST00000160373.3																			0				breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83						c.(97-99)Gtg>Ctg		cortactin binding protein 2							42	38	40					7																	117501355		2203	4300	6503	SO:0001583	missense	83992							g.chr7:117501355C>G		CCDS5774.1	7q31	2013-01-10	2004-06-08	2004-06-09	ENSG00000077063	ENSG00000077063		"Ankyrin repeat domain containing"	15679	protein-coding gene	gene with protein product		609772	"cortactin binding protein 2"	CORTBP2, C7orf8		11707066	Standard	XM_005250635		Approved	KIAA1758, Orf4	uc003vjf.3	Q8WZ74	OTTHUMG00000022880	ENST00000160373.3:c.97G>C	7.37:g.117501355C>G	ENSP00000160373:p.Val33Leu						p.V33L	NM_033427.2	NP_219499.1	Q8WZ74	CTTB2_HUMAN		LUSC - Lung squamous cell carcinoma(290;0.133)	2	188	-	Lung NSC(10;0.0018)|all_lung(10;0.002)		33					O43389|Q7LG11|Q9C0A5	Missense_Mutation	SNP	ENST00000160373.3	37	c.97G>C	CCDS5774.1	.	.	.	.	.	.	.	.	.	.	C	9.099	1.003771	0.19199	.	.	ENSG00000077063	ENST00000160373	T	0.47528	0.84	5.63	4.74	0.60224	Cortactin-binding protein-2, N-terminal (1);	0.183587	0.46758	N	0.000276	T	0.36853	0.0982	N	0.21142	0.635	0.45676	D	0.998599	B	0.18310	0.027	B	0.27262	0.078	T	0.11690	-1.0577	10	0.27082	T	0.32	-22.9422	15.0477	0.71841	0.1434:0.8566:0.0:0.0	.	33	Q8WZ74	CTTB2_HUMAN	L	33	ENSP00000160373:V33L	ENSP00000160373:V33L	V	-	1	0	CTTNBP2	117288591	1.000000	0.71417	0.997000	0.53966	0.995000	0.86356	2.935000	0.48963	1.474000	0.48178	0.591000	0.81541	GTG		0.458	CTTNBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059201.4	NM_033427		3	19	0	0	0	1	0	3	19					G	117501355	C	G	117501355	3	3	240	1	0	0	0	0	1	0	0	0	4045	478	17	5	4982	5	CTTNBP2	7	117501355	Missense_Mutation	SNP	C	TCGA-HC-A4ZV-01A-11D-A26M-08	11761737	117501355	41637308	60	11222											
TTC26	79989	broad.mit.edu	37	chr7	138833005	138833005	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctgctactacaagttggattActatgatgtgtctcaagaag	12	13	9	7	0	1	2	1	1	1	1	2	3	1	3	0	1	4	2	0	1	7	5	rs377176348		TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr7:138833005A>G	ENST00000464848.1	+	7	679	c.599A>G	c.(598-600)tAc>tGc	p.Y200C	TTC26_ENST00000430935.1_Missense_Mutation_p.Y200C|TTC26_ENST00000481482.1_3'UTR|TTC26_ENST00000343187.4_Missense_Mutation_p.Y169C|TTC26_ENST00000474035.2_Missense_Mutation_p.Y200C|TTC26_ENST00000495038.1_Intron|TTC26_ENST00000478836.2_Intron			A0AVF1	TTC26_HUMAN	tetratricopeptide repeat domain 26	200					cilium assembly (GO:0042384)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|intraciliary transport particle B (GO:0030992)|primary cilium (GO:0072372)				breast(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	24						AAGTTGGATTACTATGATGTG	0.393																																						ENST00000464848.1																			0				breast(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	24						c.(598-600)tAc>tGc		tetratricopeptide repeat domain 26		A	CYS/TYR,CYS/TYR,CYS/TYR	1,4405	2.1+/-5.4	0,1,2202	266	233	244		599,506,599	5.5	1	7		244	0,8600		0,0,4300	no	missense,missense,missense	TTC26	NM_001144920.1,NM_001144923.1,NM_024926.2	194,194,194	0,1,6502	GG,GA,AA		0.0,0.0227,0.0077	probably-damaging,probably-damaging,probably-damaging	200/488,169/524,200/555	138833005	1,13005	2203	4300	6503	SO:0001583	missense	79989						binding	g.chr7:138833005A>G	AK022633	CCDS5852.1, CCDS55172.1, CCDS55173.1, CCDS75665.1	7q34	2013-01-11			ENSG00000105948	ENSG00000105948		"Intraflagellar transport homologs", "Tetratricopeptide (TTC) repeat domain containing"	21882	protein-coding gene	gene with protein product							Standard	NM_001144920		Approved	FLJ12571, dyf-13, DYF13	uc003vus.2	A0AVF1	OTTHUMG00000157472	ENST00000464848.1:c.599A>G	7.37:g.138833005A>G	ENSP00000419279:p.Tyr200Cys					TTC26_ENST00000495038.1_Intron|TTC26_ENST00000481482.1_3'UTR|TTC26_ENST00000478836.2_Intron|TTC26_ENST00000474035.2_Missense_Mutation_p.Y200C|TTC26_ENST00000343187.4_Missense_Mutation_p.Y169C|TTC26_ENST00000430935.1_Missense_Mutation_p.Y200C	p.Y200C			A0AVF1	TTC26_HUMAN			7	679	+			200					A4D1S3|B7Z5M0|C9J2N7|F8W724|Q9H9S8|Q9NTC0	Missense_Mutation	SNP	ENST00000464848.1	37	c.599A>G	CCDS5852.1	.	.	.	.	.	.	.	.	.	.	A	24.9	4.580850	0.86748	2.27E-4	0.0	ENSG00000105948	ENST00000430935;ENST00000474035;ENST00000464848;ENST00000343187	T;T;T;T	0.75704	-0.96;-0.96;-0.96;1.19	5.47	5.47	0.80525	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.85682	D	0.000000	D	0.88901	0.6563	M	0.91920	3.255	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.997;0.999;0.998;0.996;1.0	D	0.91227	0.5011	10	0.66056	D	0.02	.	15.5524	0.76164	1.0:0.0:0.0:0.0	.	169;200;200;169;200	F8W724;C9J2N7;A0AVF1;B7Z5M0;Q96CU4	.;.;TTC26_HUMAN;.;.	C	200;200;200;169	ENSP00000410655:Y200C;ENSP00000443253:Y200C;ENSP00000419279:Y200C;ENSP00000339135:Y169C	ENSP00000339135:Y169C	Y	+	2	0	TTC26	138483545	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.913000	0.92730	2.083000	0.62718	0.533000	0.62120	TAC		0.393	TTC26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348919.2	NM_024926		4	73	0	0	0	1	0	4	73					G	138833005	A	G	138833005	3	3	240	1	0	0	0	0	1	0	0	0	16691	391	14	4	625	4	TTC26	7	138833005	Missense_Mutation	SNP	A	TCGA-HC-A4ZV-01A-11D-A26M-08	21331650	138833005	20305658	61	11223											
MLL3	58508	broad.mit.edu	37	chr7	151945553	151945553	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cacagtgatctggtgtgtaaCgacttcaatgttttctgtca	9	15	9	8	1	4	1	2	1	2	0	4	2	4	1	0	1	1	2	0	1	2	4			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr7:151945553C>T	ENST00000262189.6	-	14	2184	c.1966G>A	c.(1966-1968)Gtt>Att	p.V656I	KMT2C_ENST00000355193.2_Missense_Mutation_p.V656I	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	656					histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.V656I(2)									TGGTGTGTAACGACTTCAATG	0.393																																						ENST00000355193.2																			2	Substitution - Missense(2)	p.V656I(2)	large_intestine(2)								c.(1966-1968)Gtt>Att		lysine (K)-specific methyltransferase 2C							82	76	78					7																	151945553		2203	4300	6503	SO:0001583	missense	58508							g.chr7:151945553C>T	AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	13726	protein-coding gene	gene with protein product		606833	"myeloid/lymphoid or mixed-lineage leukemia 3"	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.1966G>A	7.37:g.151945553C>T	ENSP00000262189:p.Val656Ile					KMT2C_ENST00000262189.6_Missense_Mutation_p.V656I	p.V656I							14	2184	-								Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Missense_Mutation	SNP	ENST00000262189.6	37	c.1966G>A	CCDS5931.1	.	.	.	.	.	.	.	.	.	.	C	8.304	0.820551	0.16678	.	.	ENSG00000055609	ENST00000262189;ENST00000355193	D;D	0.83335	-1.7;-1.71	5.12	-4.66	0.03329	.	1.395780	0.05128	N	0.492020	T	0.63604	0.2525	N	0.19112	0.55	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.45234	-0.9275	10	0.20519	T	0.43	.	0.8444	0.01157	0.1953:0.1941:0.2918:0.3188	.	656	Q8NEZ4	MLL3_HUMAN	I	656	ENSP00000262189:V656I;ENSP00000347325:V656I	ENSP00000262189:V656I	V	-	1	0	MLL3	151576486	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-0.263000	0.08670	-0.724000	0.04908	-1.078000	0.02229	GTT		0.393	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3			11	22	0	0	0	1	0	11	22					T	151945553	C	T	151945553	3	4	240	1	0	0	0	0	1	0	0	0	9622	536	19	1	12953	1	MLL3	7	151945553	Missense_Mutation	SNP	C	TCGA-HC-A4ZV-01A-11D-A26M-08	13112548	151945553	7193110	62	11224											
RALYL	138046	broad.mit.edu	37	chr8	85686864	85686864	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acagaccaaaacctggaaacAagaggcccctttctgcactt	14	7	7	13	0	1	2	0	0	1	2	1	3	1	3	4	2	3	1	4	2	4	2			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr8:85686864A>G	ENST00000521268.1	+	3	1412	c.307A>G	c.(307-309)Aag>Gag	p.K103E	RALYL_ENST00000523850.1_Missense_Mutation_p.K30E|RALYL_ENST00000518566.1_Missense_Mutation_p.K103E|RALYL_ENST00000522455.1_Missense_Mutation_p.K103E|RALYL_ENST00000521376.1_Missense_Mutation_p.K30E|RALYL_ENST00000521695.1_Missense_Mutation_p.K103E|RALYL_ENST00000517638.1_Missense_Mutation_p.K116E	NM_173848.5	NP_776247.3	Q86SE5	RALYL_HUMAN	RALY RNA binding protein-like	103							nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)	24						ACCTGGAAACAAGAGGCCCCT	0.353																																						ENST00000521268.1																			0				endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)	24						c.(307-309)Aag>Gag		RALY RNA binding protein-like							63	62	63					8																	85686864		1828	4092	5920	SO:0001583	missense	138046						identical protein binding|nucleotide binding|RNA binding	g.chr8:85686864A>G		CCDS55252.1, CCDS55253.1, CCDS75760.1, CCDS75761.1	8q21.2	2013-07-16			ENSG00000184672	ENSG00000184672		"RNA binding motif (RRM) containing"	27036	protein-coding gene	gene with protein product		614648				12688537	Standard	NM_001100391		Approved	HNRPCL3	uc003yct.4	Q86SE5	OTTHUMG00000164628	ENST00000521268.1:c.307A>G	8.37:g.85686864A>G	ENSP00000430367:p.Lys103Glu					RALYL_ENST00000522455.1_Missense_Mutation_p.K103E|RALYL_ENST00000523850.1_Missense_Mutation_p.K30E|RALYL_ENST00000517638.1_Missense_Mutation_p.K116E|RALYL_ENST00000518566.1_Missense_Mutation_p.K103E|RALYL_ENST00000521695.1_Missense_Mutation_p.K103E|RALYL_ENST00000521376.1_Missense_Mutation_p.K30E	p.K103E	NM_173848.5	NP_776247.3	Q86SE5	RALYL_HUMAN			3	1412	+			103					B3KTH2|G3V129|Q6ZW87|Q8N1C2	Missense_Mutation	SNP	ENST00000521268.1	37	c.307A>G	CCDS55253.1	.	.	.	.	.	.	.	.	.	.	A	25.0	4.590633	0.86851	.	.	ENSG00000184672	ENST00000522455;ENST00000521695;ENST00000521268;ENST00000518566;ENST00000517638;ENST00000523850;ENST00000521376	T;T;T;T;T;T;T	0.38722	2.71;2.71;2.71;2.63;2.71;1.59;1.12	5.71	5.71	0.89125	Nucleotide-binding, alpha-beta plait (1);	0.092488	0.64402	D	0.000001	T	0.63034	0.2477	M	0.82517	2.595	0.36582	D	0.87361	B;D;D;P;D	0.61080	0.44;0.989;0.971;0.733;0.989	B;P;P;P;P	0.58970	0.186;0.849;0.54;0.493;0.849	T	0.75110	-0.3433	10	0.87932	D	0	-9.7315	13.5029	0.61467	1.0:0.0:0.0:0.0	.	103;103;30;116;103	B3KT61;B3KSX3;Q86SE5-2;G3V129;Q86SE5	.;.;.;.;RALYL_HUMAN	E	103;103;103;103;116;30;30	ENSP00000430394:K103E;ENSP00000428667:K103E;ENSP00000430367:K103E;ENSP00000430065:K103E;ENSP00000430128:K116E;ENSP00000428807:K30E;ENSP00000428310:K30E	ENSP00000430128:K116E	K	+	1	0	RALYL	85849419	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.223000	0.78033	2.172000	0.68678	0.533000	0.62120	AAG		0.353	RALYL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379448.1			6	11	0	0	0	1	0	6	11					G	85686864	A	G	85686864	3	3	240	1	0	0	0	0	1	0	0	0	13020	131	5	4	356	4	RALYL	8	85686864	Missense_Mutation	SNP	A	TCGA-HC-A4ZV-01A-11D-A26M-08		85686864	60677158	63	11225											
CA2	760	broad.mit.edu	37	chr8	86386011	86386011	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atggacaaggttcagagcatActgtggataaaaagaaatat	18	9	10	4	0	1	2	1	0	0	2	1	4	1	4	0	3	2	2	0	3	7	4			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr8:86386011A>T	ENST00000285379.5	+	3	552	c.322A>T	c.(322-324)Act>Tct	p.T108S		NM_000067.2	NP_000058.1	P00918	CAH2_HUMAN	carbonic anhydrase II	108					angiotensin-activated signaling pathway (GO:0038166)|bicarbonate transport (GO:0015701)|kidney development (GO:0001822)|morphogenesis of an epithelium (GO:0002009)|odontogenesis of dentin-containing tooth (GO:0042475)|one-carbon metabolic process (GO:0006730)|positive regulation of bone resorption (GO:0045780)|positive regulation of cellular pH reduction (GO:0032849)|positive regulation of dipeptide transmembrane transport (GO:2001150)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|regulation of anion transport (GO:0044070)|regulation of chloride transport (GO:2001225)|regulation of intracellular pH (GO:0051453)|response to estrogen (GO:0043627)|response to pH (GO:0009268)|response to zinc ion (GO:0010043)|secretion (GO:0046903)|small molecule metabolic process (GO:0044281)	apical part of cell (GO:0045177)|axon (GO:0030424)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|microvillus (GO:0005902)|myelin sheath (GO:0043209)|plasma membrane (GO:0005886)	carbonate dehydratase activity (GO:0004089)|zinc ion binding (GO:0008270)			central_nervous_system(2)|cervix(1)|large_intestine(2)|lung(5)|prostate(1)	11					Acetazolamide(DB00819)|Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Brinzolamide(DB01194)|Chlorothiazide(DB00880)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Diclofenamide(DB01144)|Dorzolamide(DB00869)|Ethinamate(DB01031)|Furosemide(DB00695)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methazolamide(DB00703)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Topiramate(DB00273)|Trichlormethiazide(DB01021)|Zonisamide(DB00909)	TTCAGAGCATACTGTGGATAA	0.343																																						ENST00000285379.5																			0				central_nervous_system(2)|cervix(1)|large_intestine(2)|lung(5)|prostate(1)	11						c.(322-324)Act>Tct		carbonic anhydrase II	Acetazolamide(DB00819)|Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Brinzolamide(DB01194)|Chlorothiazide(DB00880)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Dorzolamide(DB00869)|Ethinamate(DB01031)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Topiramate(DB00273)|Trichlormethiazide(DB01021)						92	97	95					8																	86386011		2203	4300	6503	SO:0001583	missense	760				one-carbon metabolic process	apical part of cell	carbonate dehydratase activity|zinc ion binding	g.chr8:86386011A>T	J03037	CCDS6239.1	8q21.2	2012-10-02			ENSG00000104267	ENSG00000104267	4.2.1.1	"Carbonic anhydrases"	1373	protein-coding gene	gene with protein product		611492				3107918	Standard	NM_000067		Approved	Car2, CA-II, CAII	uc003ydk.2	P00918	OTTHUMG00000164944	ENST00000285379.5:c.322A>T	8.37:g.86386011A>T	ENSP00000285379:p.Thr108Ser						p.T108S	NM_000067.2	NP_000058.1	P00918	CAH2_HUMAN			3	552	+			108					B2R7G8|Q6FI12|Q96ET9	Missense_Mutation	SNP	ENST00000285379.5	37	c.322A>T	CCDS6239.1	.	.	.	.	.	.	.	.	.	.	A	18.93	3.726774	0.69074	.	.	ENSG00000104267	ENST00000285379	T	0.71222	-0.55	5.56	4.39	0.52855	Carbonic anhydrase, alpha-class, conserved site (1);Carbonic anhydrase, alpha-class, catalytic domain (4);	0.043926	0.85682	N	0.000000	T	0.73194	0.3556	M	0.70842	2.15	0.80722	D	1	B	0.30482	0.281	B	0.39771	0.309	T	0.72327	-0.4327	10	0.59425	D	0.04	-2.5428	10.9715	0.47442	0.8525:0.0:0.0:0.1475	.	108	P00918	CAH2_HUMAN	S	108	ENSP00000285379:T108S	ENSP00000285379:T108S	T	+	1	0	CA2	86573263	0.937000	0.31787	0.978000	0.43139	0.554000	0.35429	3.724000	0.54962	0.919000	0.36945	0.454000	0.30748	ACT		0.343	CA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381097.2	NM_000067		19	33	0	0	0	1	0	19	33					T	86386011	A	T	86386011	3	4	240	1	0	0	0	0	1	0	0	0	2516	391	14	5	332	5	CA2	8	86386011	Missense_Mutation	SNP	A	TCGA-HC-A4ZV-01A-11D-A26M-08	699147	86386011	59978011	64	11226											
SNX31	169166	broad.mit.edu	37	chr8	101612611	101612611	+	Nonsense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cttctttctggaaagcttctAatttctgcctctgtgcctgt	5	18	7	11	0	5	0	0	0	5	0	5	1	5	1	2	1	3	1	2	1	2	5			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr8:101612611A>T	ENST00000311812.2	-	9	890	c.740T>A	c.(739-741)tTa>tAa	p.L247*	SNX31_ENST00000428383.2_Nonsense_Mutation_p.L148*	NM_152628.3	NP_689841.3	Q8N9S9	SNX31_HUMAN	sorting nexin 31	247					protein transport (GO:0015031)	protein complex (GO:0043234)	phosphatidylinositol binding (GO:0035091)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|prostate(1)|skin(3)|urinary_tract(1)	26	all_cancers(14;4.01e-05)|all_epithelial(15;1.26e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125)		Epithelial(11;1.21e-11)|all cancers(13;2.62e-09)|OV - Ovarian serous cystadenocarcinoma(57;3.22e-06)|STAD - Stomach adenocarcinoma(118;0.206)			GAAAGCTTCTAATTTCTGCCT	0.363																																						ENST00000311812.2																			0				NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|prostate(1)|skin(3)|urinary_tract(1)	26						c.(739-741)tTa>tAa		sorting nexin 31							217	202	207					8																	101612611		2203	4300	6503	SO:0001587	stop_gained	169166				cell communication|protein transport		phosphatidylinositol binding	g.chr8:101612611A>T		CCDS6288.1	8q22.3	2011-05-03			ENSG00000174226	ENSG00000174226		"Sorting nexins"	28605	protein-coding gene	gene with protein product						16782399	Standard	NM_152628		Approved	MGC39715	uc003yjr.3	Q8N9S9	OTTHUMG00000164725	ENST00000311812.2:c.740T>A	8.37:g.101612611A>T	ENSP00000312368:p.Leu247*					SNX31_ENST00000428383.2_Nonsense_Mutation_p.L148*	p.L247*	NM_152628.3	NP_689841.3	Q8N9S9	SNX31_HUMAN	Epithelial(11;1.21e-11)|all cancers(13;2.62e-09)|OV - Ovarian serous cystadenocarcinoma(57;3.22e-06)|STAD - Stomach adenocarcinoma(118;0.206)		9	890	-	all_cancers(14;4.01e-05)|all_epithelial(15;1.26e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125)		247					C9J6L9|Q8N0U9	Nonsense_Mutation	SNP	ENST00000311812.2	37	c.740T>A	CCDS6288.1	.	.	.	.	.	.	.	.	.	.	A	27.8	4.864359	0.91511	.	.	ENSG00000174226	ENST00000311812;ENST00000428383	.	.	.	4.85	4.85	0.62838	.	0.000000	0.39615	N	0.001310	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-6.2686	12.0697	0.53609	1.0:0.0:0.0:0.0	.	.	.	.	X	247;148	.	ENSP00000312368:L247X	L	-	2	0	SNX31	101681787	0.993000	0.37304	0.455000	0.27031	0.732000	0.41865	5.481000	0.66826	2.030000	0.59900	0.455000	0.32223	TTA		0.363	SNX31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379910.1	NM_152628		17	103	0	0	0	1	0	17	103					T	101612611	A	T	101612611	4	4	240	1	0	0	0	0	0	1	0	0	14901	372	13	5	606	5	SNX31	8	101612611	Nonsense_Mutation	SNP	A	TCGA-HC-A4ZV-01A-11D-A26M-08	15226600	101612611	44751411	65	11227											
KLHL38	340359	broad.mit.edu	37	chr8	124664821	124664821	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggcctcaaacagcttggggaActgtagcatggaggcggcct	9	7	15	10	1	1	0	1	0	0	0	1	2	1	2	2	6	4	3	2	6	3	2			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr8:124664821A>G	ENST00000325995.7	-	1	369	c.346T>C	c.(346-348)Ttc>Ctc	p.F116L	CTD-2552K11.2_ENST00000524355.1_RNA	NM_001081675.2	NP_001075144.2	Q2WGJ6	KLH38_HUMAN	kelch-like family member 38	116										breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(16)|pancreas(1)|prostate(3)|stomach(1)	38						AGCTTGGGGAACTGTAGCATG	0.567																																						ENST00000325995.7																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(16)|pancreas(1)|prostate(3)|stomach(1)	38						c.(346-348)Ttc>Ctc		kelch-like family member 38							52	58	56					8																	124664821		2020	4174	6194	SO:0001583	missense	340359							g.chr8:124664821A>G		CCDS43766.1	8q24.13	2013-02-22	2013-02-22		ENSG00000175946	ENSG00000175946		"Kelch-like", "BTB/POZ domain containing"	34435	protein-coding gene	gene with protein product			"kelch-like 38 (Drosophila)"				Standard	NM_001081675		Approved	C8ORFK36	uc003yqs.1	Q2WGJ6	OTTHUMG00000164983	ENST00000325995.7:c.346T>C	8.37:g.124664821A>G	ENSP00000321475:p.Phe116Leu					CTD-2552K11.2_ENST00000524355.1_RNA	p.F116L	NM_001081675.2	NP_001075144.2	Q2WGJ6	KLH38_HUMAN			1	369	-			116					A0PK12	Missense_Mutation	SNP	ENST00000325995.7	37	c.346T>C	CCDS43766.1	.	.	.	.	.	.	.	.	.	.	A	16.48	3.134646	0.56828	.	.	ENSG00000175946	ENST00000325995	T	0.63580	-0.05	5.43	5.43	0.79202	BTB/POZ-like (1);BTB/POZ (1);BTB/POZ fold (2);	0.053456	0.85682	D	0.000000	T	0.35595	0.0937	N	0.03238	-0.38	0.35844	D	0.826257	B	0.10296	0.003	B	0.08055	0.003	T	0.41052	-0.9530	10	0.02654	T	1	.	15.4743	0.75465	1.0:0.0:0.0:0.0	.	116	Q2WGJ6	KLH38_HUMAN	L	116	ENSP00000321475:F116L	ENSP00000321475:F116L	F	-	1	0	KLHL38	124734002	1.000000	0.71417	1.000000	0.80357	0.893000	0.52053	9.243000	0.95416	2.070000	0.61991	0.379000	0.24179	TTC		0.567	KLHL38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381288.1			9	33	0	0	0	1	0	9	33					G	124664821	A	G	124664821	3	3	240	1	0	0	0	0	1	0	0	0	8390	43	2	4	1411	4	KLHL38	8	124664821	Missense_Mutation	SNP	A	TCGA-HC-A4ZV-01A-11D-A26M-08	23052210	124664821	21699201	66	11228											
FAM154A	158297	broad.mit.edu	37	chr9	18941638	18941638	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cctctgtgctctcccaccttTataagtaggcaaacactcca	10	11	5	15	0	2	0	0	0	2	0	4	0	3	0	4	1	2	3	4	1	4	4			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr9:18941638T>C	ENST00000380534.4	-	3	697	c.418A>G	c.(418-420)Aaa>Gaa	p.K140E	FAM154A_ENST00000542071.1_Intron|FAM154A_ENST00000380530.1_Intron	NM_153707.2	NP_714918.2	Q8IYX7	F154A_HUMAN	family with sequence similarity 154, member A	140										breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(1)|skin(1)	26				GBM - Glioblastoma multiforme(50;6.53e-16)		CTCCCACCTTTATAAGTAGGC	0.493																																						ENST00000380534.4																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(1)|skin(1)	26						c.(418-420)Aaa>Gaa		family with sequence similarity 154, member A							113	100	104					9																	18941638		2203	4300	6503	SO:0001583	missense	158297							g.chr9:18941638T>C	BC033489	CCDS6487.1, CCDS75819.1, CCDS75820.1	9p22.1	2012-03-23	2008-02-21	2008-02-21	ENSG00000155875	ENSG00000155875			28566	protein-coding gene	gene with protein product			"chromosome 9 open reading frame 138"	C9orf138		12477932	Standard	NM_153707		Approved	MGC35182	uc003zni.2	Q8IYX7	OTTHUMG00000019609	ENST00000380534.4:c.418A>G	9.37:g.18941638T>C	ENSP00000369907:p.Lys140Glu					FAM154A_ENST00000542071.1_Intron|FAM154A_ENST00000380530.1_Intron	p.K140E	NM_153707.2	NP_714918.2	Q8IYX7	F154A_HUMAN		GBM - Glioblastoma multiforme(50;6.53e-16)	3	697	-			140					Q5VY58	Missense_Mutation	SNP	ENST00000380534.4	37	c.418A>G	CCDS6487.1	.	.	.	.	.	.	.	.	.	.	t	18.19	3.568714	0.65651	.	.	ENSG00000155875	ENST00000380534	T	0.19806	2.12	5.62	5.62	0.85841	.	0.000000	0.64402	D	0.000014	T	0.33673	0.0871	M	0.82323	2.585	0.80722	D	1	P	0.36683	0.565	B	0.40825	0.341	T	0.20672	-1.0268	10	0.62326	D	0.03	.	12.2215	0.54437	0.0:0.0:0.0:1.0	.	140	Q8IYX7	F154A_HUMAN	E	140	ENSP00000369907:K140E	ENSP00000369907:K140E	K	-	1	0	FAM154A	18931638	1.000000	0.71417	0.945000	0.38365	0.386000	0.30323	4.150000	0.58098	2.141000	0.66446	0.454000	0.30748	AAA		0.493	FAM154A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051811.1	NM_153707		8	30	0	0	0	1	0	8	30					C	18941638	T	C	18941638	3	2	240	1	0	0	0	0	1	0	0	0	5463	1763	61	4	1014	4	FAM154A	9	18941638	Missense_Mutation	SNP	T	TCGA-HC-A4ZV-01A-11D-A26M-08		18941638	122271793	67	11229											
TEK	7010	broad.mit.edu	37	chr9	27217729	27217729	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggccatcgagtcactgaattAcagtgtgtacacaaccaaca	14	8	8	11	1	1	1	1	1	0	0	2	2	1	1	2	1	4	1	2	1	5	2			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr9:27217729A>G	ENST00000380036.4	+	19	3477	c.3035A>G	c.(3034-3036)tAc>tGc	p.Y1012C	TEK_ENST00000406359.4_Missense_Mutation_p.Y969C|TEK_ENST00000519097.1_Missense_Mutation_p.Y864C	NM_000459.3	NP_000450	Q02763	TIE2_HUMAN	TEK tyrosine kinase, endothelial	1012	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cell-cell signaling (GO:0007267)|cell-matrix adhesion (GO:0007160)|definitive hemopoiesis (GO:0060216)|endochondral ossification (GO:0001958)|endothelial cell proliferation (GO:0001935)|glomerulus vasculature development (GO:0072012)|heart development (GO:0007507)|heart trabecula formation (GO:0060347)|intracellular signal transduction (GO:0035556)|leukocyte migration (GO:0050900)|negative regulation of angiogenesis (GO:0016525)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of inflammatory response (GO:0050728)|organ regeneration (GO:0031100)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|protein autophosphorylation (GO:0046777)|protein oligomerization (GO:0051259)|regulation of endothelial cell apoptotic process (GO:2000351)|regulation of establishment or maintenance of cell polarity (GO:0032878)|regulation of vascular permeability (GO:0043114)|response to cAMP (GO:0051591)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|response to peptide hormone (GO:0043434)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|sprouting angiogenesis (GO:0002040)|substrate adhesion-dependent cell spreading (GO:0034446)|Tie signaling pathway (GO:0048014)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)|receptor activity (GO:0004872)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(3)|central_nervous_system(3)|kidney(1)|lung(2)|ovary(3)|skin(3)	15		all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255)		Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027)	Ponatinib(DB08901)|Regorafenib(DB08896)|Vandetanib(DB05294)	TCACTGAATTACAGTGTGTAC	0.438																																						ENST00000380036.4																			0				breast(3)|central_nervous_system(3)|kidney(1)|lung(2)|ovary(3)|skin(3)	15						c.(3034-3036)tAc>tGc		TEK tyrosine kinase, endothelial							125	126	125					9																	27217729		2203	4300	6503	SO:0001583	missense	7010				angiogenesis|blood coagulation|cell-cell signaling|leukocyte migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase B signaling cascade|protein oligomerization|transmembrane receptor protein tyrosine kinase signaling pathway	apical plasma membrane|basolateral plasma membrane|cell surface|integral to plasma membrane|membrane raft|microvillus	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity	g.chr9:27217729A>G	L06139	CCDS6519.1, CCDS75825.1	9p21	2013-02-11	2008-07-31		ENSG00000120156	ENSG00000120156		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	11724	protein-coding gene	gene with protein product		600221	"venous malformations, multiple cutaneous and mucosal"	VMCM		1312667, 7833915	Standard	XM_005251561		Approved	TIE2, TIE-2, VMCM1, CD202b	uc003zqi.4	Q02763	OTTHUMG00000019712	ENST00000380036.4:c.3035A>G	9.37:g.27217729A>G	ENSP00000369375:p.Tyr1012Cys					TEK_ENST00000519097.1_Missense_Mutation_p.Y864C|TEK_ENST00000406359.4_Missense_Mutation_p.Y969C	p.Y1012C	NM_000459.3	NP_000450.2	Q02763	TIE2_HUMAN		Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027)	19	3477	+		all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255)	1012			Protein kinase.		A8K6W0|B4DH20|B4DHD3|D3DRK5|E7EWI2|Q5TCU2|Q8IV34	Missense_Mutation	SNP	ENST00000380036.4	37	c.3035A>G	CCDS6519.1	.	.	.	.	.	.	.	.	.	.	A	20.3	3.964890	0.74131	.	.	ENSG00000120156	ENST00000519097;ENST00000380036;ENST00000406359	T;T;T	0.69435	-0.4;-0.4;-0.4	4.36	4.36	0.52297	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.41396	D	0.000896	T	0.69851	0.3157	N	0.20610	0.595	0.80722	D	1	D;D;D	0.89917	0.999;1.0;0.999	D;D;D	0.91635	0.999;0.999;0.999	T	0.74583	-0.3617	10	0.66056	D	0.02	.	14.0144	0.64515	1.0:0.0:0.0:0.0	.	864;1045;1012	E7EWI2;Q59HG2;Q02763	.;.;TIE2_HUMAN	C	864;1012;969	ENSP00000430686:Y864C;ENSP00000369375:Y1012C;ENSP00000383977:Y969C	ENSP00000369375:Y1012C	Y	+	2	0	TEK	27207729	1.000000	0.71417	0.999000	0.59377	0.932000	0.56968	9.030000	0.93725	1.955000	0.56771	0.482000	0.46254	TAC		0.438	TEK-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051965.3			16	31	0	0	0	1	0	16	31					G	27217729	A	G	27217729	3	3	240	1	0	0	0	0	1	0	0	0	15748	391	14	4	3109	4	TEK	9	27217729	Missense_Mutation	SNP	A	TCGA-HC-A4ZV-01A-11D-A26M-08	8276091	27217729	113995702	68	11230											
FOXB2	442425	broad.mit.edu	37	chr9	79635159	79635159	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcctccgcacctcccgtcaCagcccccgcagcaaccgccc	6	3	7	25	5	1	0	1	0	0	0	3	0	3	0	8	0	3	3	8	0	1	0			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr9:79635159C>G	ENST00000376708.1	+	1	589	c.589C>G	c.(589-591)Cag>Gag	p.Q197E		NM_001013735.1	NP_001013757.1	Q5VYV0	FOXB2_HUMAN	forkhead box B2	197					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|lung(8)|ovary(1)	10						CCTCCCGTCACAGCCCCCGCA	0.761																																						ENST00000376708.1																			0				breast(1)|lung(8)|ovary(1)	10						c.(589-591)Cag>Gag		forkhead box B2							9	14	12					9																	79635159		1879	3698	5577	SO:0001583	missense	442425				brain development|embryo development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chr9:79635159C>G		CCDS35045.1	9q21.2	2008-02-05			ENSG00000204612	ENSG00000204612		"Forkhead boxes"	23315	protein-coding gene	gene with protein product							Standard	NM_001013735		Approved	bA159H20.4	uc004ako.1	Q5VYV0	OTTHUMG00000020051	ENST00000376708.1:c.589C>G	9.37:g.79635159C>G	ENSP00000365898:p.Gln197Glu						p.Q197E	NM_001013735.1	NP_001013757.1	Q5VYV0	FOXB2_HUMAN			1	589	+			197						Missense_Mutation	SNP	ENST00000376708.1	37	c.589C>G	CCDS35045.1	.	.	.	.	.	.	.	.	.	.	C	5.075	0.199553	0.09652	.	.	ENSG00000204612	ENST00000376708	T	0.39229	1.09	3.44	3.44	0.39384	.	.	.	.	.	T	0.25306	0.0615	N	0.22421	0.69	0.25075	N	0.990961	B	0.14438	0.01	B	0.08055	0.003	T	0.13899	-1.0492	9	0.02654	T	1	.	12.3811	0.55307	0.0:1.0:0.0:0.0	.	197	Q5VYV0	FOXB2_HUMAN	E	197	ENSP00000365898:Q197E	ENSP00000365898:Q197E	Q	+	1	0	FOXB2	78824979	0.002000	0.14202	0.997000	0.53966	0.696000	0.40369	0.246000	0.18160	1.447000	0.47661	0.462000	0.41574	CAG		0.761	FOXB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052745.1	NM_001013735		14	26	0	0	0	1	0	14	26					G	79635159	C	G	79635159	3	3	240	1	0	0	0	0	1	0	0	0	5993	479	17	5	591	5	FOXB2	9	79635159	Missense_Mutation	SNP	C	TCGA-HC-A4ZV-01A-11D-A26M-08	52417430	79635159	61578272	69	11231											
MYO3A	53904	broad.mit.edu	37	chr10	26500819	26500819	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggaggaggagagagagccagCagccaacccctacgacttca	13	3	13	12	1	1	2	1	0	0	2	1	7	1	4	4	3	5	1	4	3	2	2			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr10:26500819C>G	ENST00000265944.5	+	35	4944	c.4778C>G	c.(4777-4779)gCa>gGa	p.A1593G	MYO3A_ENST00000543632.1_Missense_Mutation_p.S608R	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	1593					ATP catabolic process (GO:0006200)|inner ear development (GO:0048839)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of filopodium assembly (GO:0051491)|protein autophosphorylation (GO:0046777)|response to stimulus (GO:0050896)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|filamentous actin (GO:0031941)|filopodium (GO:0030175)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|photoreceptor inner segment (GO:0001917)|stereocilium bundle tip (GO:0032426)	actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|plus-end directed microfilament motor activity (GO:0060002)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						AGAGAGCCAGCAGCCAACCCC	0.652																																						ENST00000265944.5																			0				NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						c.(4777-4779)gCa>gGa		myosin IIIA							50	57	55					10																	26500819		2203	4300	6503	SO:0001583	missense	53904				protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity	g.chr10:26500819C>G	AF229172	CCDS7148.1	10p11.1	2011-09-27	2004-05-19		ENSG00000095777	ENSG00000095777		"Myosins / Myosin superfamily : Class III"	7601	protein-coding gene	gene with protein product		606808	"deafness, autosomal recessive 30"	DFNB30		10936054	Standard	NM_017433		Approved		uc001isn.2	Q8NEV4	OTTHUMG00000017837	ENST00000265944.5:c.4778C>G	10.37:g.26500819C>G	ENSP00000265944:p.Ala1593Gly					MYO3A_ENST00000543632.1_Missense_Mutation_p.S608R	p.A1593G	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN			35	4944	+			1593					Q4G0X2|Q5VZ28|Q8WX17|Q9NYS8	Missense_Mutation	SNP	ENST00000265944.5	37	c.4778C>G	CCDS7148.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	10.40|10.40	1.340472|1.340472	0.24339|0.24339	.|.	.|.	ENSG00000095777|ENSG00000095777	ENST00000265944|ENST00000543632	T|T	0.78481|0.75704	-1.18|-0.96	4.77|4.77	0.559|0.559	0.17272|0.17272	.|.	0.639575|.	0.15627|.	N|.	0.252582|.	T|T	0.54029|0.54029	0.1833|0.1833	N|N	0.19112|0.19112	0.55|0.55	0.09310|0.09310	N|N	1|1	B|B	0.02656|0.02656	0.0|0.0	B|B	0.04013|0.01281	0.001|0.0	T|T	0.48198|0.48198	-0.9056|-0.9056	10|9	0.21014|0.87932	T|D	0.42|0	.|.	2.3943|2.3943	0.04386|0.04386	0.2631:0.3587:0.2809:0.0973|0.2631:0.3587:0.2809:0.0973	.|.	1593|608	Q8NEV4|F5H0U9	MYO3A_HUMAN|.	G|R	1593|608	ENSP00000265944:A1593G|ENSP00000445909:S608R	ENSP00000265944:A1593G|ENSP00000445909:S608R	A|S	+|+	2|3	0|2	MYO3A|MYO3A	26540825|26540825	0.028000|0.028000	0.19301|0.19301	0.002000|0.002000	0.10522|0.10522	0.024000|0.024000	0.10985|0.10985	1.623000|1.623000	0.37008|0.37008	0.585000|0.585000	0.29608|0.29608	0.462000|0.462000	0.41574|0.41574	GCA|AGC		0.652	MYO3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047259.1	NM_017433		10	24	0	0	0	1	0	10	24					G	26500819	C	G	26500819	3	3	240	1	0	0	0	0	1	0	0	0	10076	710	25	5	4908	5	MYO3A	10	26500819	Missense_Mutation	SNP	C	TCGA-HC-A4ZV-01A-11D-A26M-08		26500819	109033928	70	11232											
DDX50	79009	broad.mit.edu	37	chr10	70673953	70673953	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gactcaaaaggctgcaactaCtgtggaagtaagtagctttc	13	10	10	8	0	1	0	1	0	0	0	2	2	1	1	0	2	4	5	0	2	7	4			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr10:70673953C>A	ENST00000373585.3	+	7	1189	c.1082C>A	c.(1081-1083)aCt>aAt	p.T361N	RNU6-571P_ENST00000384128.1_RNA	NM_024045.1	NP_076950.1	Q9BQ39	DDX50_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 50	361						membrane (GO:0016020)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)			breast(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	29						GCTGCAACTACTGTGGAAGTA	0.348																																						ENST00000373585.3																			0				breast(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	29						c.(1081-1083)aCt>aAt		DEAD (Asp-Glu-Ala-Asp) box polypeptide 50							59	56	57					10																	70673953		2203	4300	6503	SO:0001583	missense	79009					nucleolus	ATP binding|ATP-dependent helicase activity|RNA binding	g.chr10:70673953C>A	AF334103	CCDS7283.1	10q22.2	2010-09-30			ENSG00000107625	ENSG00000107625		"DEAD-boxes"	17906	protein-coding gene	gene with protein product		610373				11891046	Standard	NM_024045		Approved	GU2, MGC3199, GUB, RH-II/GuB	uc001jou.3	Q9BQ39	OTTHUMG00000018362	ENST00000373585.3:c.1082C>A	10.37:g.70673953C>A	ENSP00000362687:p.Thr361Asn						p.T361N	NM_024045.1	NP_076950.1	Q9BQ39	DDX50_HUMAN			7	1189	+			361					Q5VX37|Q8WV76|Q9BWI8	Missense_Mutation	SNP	ENST00000373585.3	37	c.1082C>A	CCDS7283.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.030752	0.75504	.	.	ENSG00000107625	ENST00000373585;ENST00000541832	T	0.04551	3.6	5.49	5.49	0.81192	.	0.000000	0.85682	D	0.000000	T	0.13543	0.0328	M	0.64080	1.96	0.80722	D	1	P;P	0.52316	0.768;0.952	B;P	0.51701	0.263;0.677	T	0.03296	-1.1051	10	0.25751	T	0.34	-13.5078	19.7394	0.96219	0.0:1.0:0.0:0.0	.	361;361	Q9BQ39;B4DED6	DDX50_HUMAN;.	N	361	ENSP00000362687:T361N	ENSP00000362687:T361N	T	+	2	0	DDX50	70343959	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.487000	0.81328	2.745000	0.94114	0.462000	0.41574	ACT		0.348	DDX50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048363.1	NM_024045		13	14	1	0	4.3838e-07	1	4.89776e-07	13	14					A	70673953	C	A	70673953	3	1	240	1	0	0	0	0	1	0	0	0	4368	565	20	5	1108	5	DDX50	10	70673953	Missense_Mutation	SNP	C	TCGA-HC-A4ZV-01A-11D-A26M-08	44173134	70673953	64860794	71	11233											
TACC2	10579	broad.mit.edu	37	chr10	123842618	123842618	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaccagtcacctggaatgtcGccagtacccctcagagagcc	10	6	10	15	1	2	1	2	0	0	1	3	4	2	2	6	1	2	1	6	1	2	1			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr10:123842618G>A	ENST00000369005.1	+	4	943	c.603G>A	c.(601-603)tcG>tcA	p.S201S	TACC2_ENST00000453444.2_Silent_p.S201S|TACC2_ENST00000334433.3_Silent_p.S201S|TACC2_ENST00000513429.1_Intron|TACC2_ENST00000358010.1_Intron|TACC2_ENST00000515603.1_Silent_p.S201S|TACC2_ENST00000515273.1_Silent_p.S201S	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	201					astral microtubule organization (GO:0030953)|cerebral cortex development (GO:0021987)|interkinetic nuclear migration (GO:0022027)|neurogenesis (GO:0022008)|regulation of microtubule-based process (GO:0032886)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleus (GO:0005634)	nuclear hormone receptor binding (GO:0035257)			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				CTGGAATGTCGCCAGTACCCC	0.582																																						ENST00000369005.1																			0				NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83						c.(601-603)tcG>tcA		transforming, acidic coiled-coil containing protein 2							32	31	32					10																	123842618		2203	4300	6503	SO:0001819	synonymous_variant	10579					microtubule organizing center|nucleus	nuclear hormone receptor binding	g.chr10:123842618G>A	AF095791	CCDS7625.1, CCDS7626.1, CCDS7627.1, CCDS7628.1	10q26	2008-07-29			ENSG00000138162	ENSG00000138162			11523	protein-coding gene	gene with protein product		605302				14767476	Standard	XM_005269388		Approved	AZU-1	uc001lfv.3	O95359	OTTHUMG00000019181	ENST00000369005.1:c.603G>A	10.37:g.123842618G>A						TACC2_ENST00000515273.1_Silent_p.S201S|TACC2_ENST00000334433.3_Silent_p.S201S|TACC2_ENST00000358010.1_Intron|TACC2_ENST00000513429.1_Intron|TACC2_ENST00000453444.2_Silent_p.S201S|TACC2_ENST00000515603.1_Silent_p.S201S	p.S201S	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN			4	943	+		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)	201					Q4VXL0|Q4VXL3|Q4VXL6|Q4VXL7|Q5U5T7|Q86WG6|Q86WG7|Q8TCK9|Q9BVQ1|Q9NZ41|Q9NZR5	Silent	SNP	ENST00000369005.1	37	c.603G>A	CCDS7626.1																																																																																				0.582	TACC2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090004.1			13	21	0	0	0	1	0	13	21					A	123842618	G	A	123842618	2	1	240	1	0	0	0	0	0	0	0	1	15499	1074	38	1		1	TACC2	10	123842618	Silent	SNP	G	TCGA-HC-A4ZV-01A-11D-A26M-08	53168665	123842618	11692129	72	11234											
ANO3	63982	broad.mit.edu	37	chr11	26681858	26681858	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cgcatacctgattccagacgTaccaaagggtctacatgacc	12	8	8	13	2	1	3	0	2	1	1	2	3	2	3	4	1	3	2	4	1	4	4			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr11:26681858T>C	ENST00000256737.3	+	27	3665	c.2813T>C	c.(2812-2814)gTa>gCa	p.V938A	ANO3_ENST00000525139.1_Missense_Mutation_p.V922A|ANO3_ENST00000537978.1_Missense_Mutation_p.V922A|ANO3_ENST00000531568.1_Missense_Mutation_p.V792A	NM_031418.2	NP_113606.2	Q9BYT9	ANO3_HUMAN	anoctamin 3	938					calcium activated galactosylceramide scrambling (GO:0061591)|calcium activated phosphatidylcholine scrambling (GO:0061590)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	phospholipid scramblase activity (GO:0017128)			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68						ATTCCAGACGTACCAAAGGGT	0.383																																						ENST00000256737.3																			0				breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68						c.(2812-2814)gTa>gCa		anoctamin 3							150	135	140					11																	26681858		2203	4299	6502	SO:0001583	missense	63982					chloride channel complex	chloride channel activity	g.chr11:26681858T>C	AJ300461	CCDS31447.1	11p14.2	2014-04-09	2008-08-28	2008-08-28	ENSG00000134343	ENSG00000134343		"Ion channels / Chloride channels : Calcium activated : Anoctamins"	14004	protein-coding gene	gene with protein product	"transmembrane protein 16C (eight membrane-spanning domains)"	610110	"chromosome 11 open reading frame 25", "transmembrane protein 16C"	C11orf25, TMEM16C		12739008, 15067359, 23200863, 24692353	Standard	NM_031418		Approved	GENX-3947, DYT23	uc001mqt.4	Q9BYT9	OTTHUMG00000166096	ENST00000256737.3:c.2813T>C	11.37:g.26681858T>C	ENSP00000256737:p.Val938Ala					ANO3_ENST00000525139.1_Missense_Mutation_p.V922A|ANO3_ENST00000537978.1_Missense_Mutation_p.V922A|ANO3_ENST00000531568.1_Missense_Mutation_p.V792A	p.V938A	NM_031418.2	NP_113606.2	Q9BYT9	ANO3_HUMAN			27	3665	+			938					B7Z3F5	Missense_Mutation	SNP	ENST00000256737.3	37	c.2813T>C	CCDS31447.1	.	.	.	.	.	.	.	.	.	.	T	20.2	3.941540	0.73557	.	.	ENSG00000134343	ENST00000537978;ENST00000525139;ENST00000256737;ENST00000538001;ENST00000531568	T;T;T;T	0.65549	-0.16;-0.16;-0.16;-0.16	5.65	5.65	0.86999	.	0.146153	0.64402	D	0.000014	T	0.67221	0.2870	M	0.70842	2.15	0.42617	D	0.99333	B;B	0.28584	0.216;0.037	B;B	0.35971	0.215;0.079	T	0.69676	-0.5081	10	0.87932	D	0	.	15.8677	0.79076	0.0:0.0:0.0:1.0	.	840;938	B7Z7Y6;Q9BYT9	.;ANO3_HUMAN	A	922;922;938;840;792	ENSP00000440737:V922A;ENSP00000432576:V922A;ENSP00000256737:V938A;ENSP00000432394:V792A	ENSP00000256737:V938A	V	+	2	0	ANO3	26638434	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.040000	0.89188	2.154000	0.67381	0.528000	0.53228	GTA		0.383	ANO3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000387806.1	NM_031418		26	49	0	0	0	1	0	26	49					C	26681858	T	C	26681858	3	2	240	1	0	0	0	0	1	0	0	0	698	1638	57	4	2919	4	ANO3	11	26681858	Missense_Mutation	SNP	T	TCGA-HC-A4ZV-01A-11D-A26M-08		26681858	108324658	73	11235											
LRP4	4038	broad.mit.edu	37	chr11	46897058	46897058	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtccatgaggcctggcaggtTggacctcacgaggatgacat	9	8	14	10	1	1	2	1	2	0	0	2	5	2	4	3	5	0	2	3	5	0	1			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr11:46897058T>G	ENST00000378623.1	-	27	4116	c.3874A>C	c.(3874-3876)Aac>Cac	p.N1292H	LRP4-AS1_ENST00000531719.1_RNA|LRP4-AS1_ENST00000502049.2_RNA	NM_002334.3	NP_002325.2	O75096	LRP4_HUMAN	low density lipoprotein receptor-related protein 4	1292					dendrite morphogenesis (GO:0048813)|dorsal/ventral pattern formation (GO:0009953)|embryonic digit morphogenesis (GO:0042733)|endocytosis (GO:0006897)|extracellular matrix organization (GO:0030198)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|limb development (GO:0060173)|negative regulation of axonogenesis (GO:0050771)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of ossification (GO:0030279)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of presynaptic membrane organization (GO:1901631)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|protein heterotetramerization (GO:0051290)|proximal/distal pattern formation (GO:0009954)|regulation of protein phosphorylation (GO:0001932)|skeletal muscle acetylcholine-gated channel clustering (GO:0071340)|synapse organization (GO:0050808)|synaptic growth at neuromuscular junction (GO:0051124)|Wnt signaling pathway (GO:0016055)	cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|postsynaptic density (GO:0014069)|synaptic membrane (GO:0097060)	calcium ion binding (GO:0005509)|receptor tyrosine kinase binding (GO:0030971)|scaffold protein binding (GO:0097110)			breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70				Lung(87;0.159)		CCTGGCAGGTTGGACCTCACG	0.597																																						ENST00000378623.1																			0				breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70						c.(3874-3876)Aac>Cac		low density lipoprotein receptor-related protein 4							66	56	59					11																	46897058		2201	4299	6500	SO:0001583	missense	4038				endocytosis|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to membrane	calcium ion binding|receptor activity	g.chr11:46897058T>G	AB011540	CCDS31478.1	11p11.2	2013-05-29			ENSG00000134569	ENSG00000134569		"Low density lipoprotein receptors"	6696	protein-coding gene	gene with protein product		604270				9693030	Standard	NM_002334		Approved	MEGF7, CLSS, LRP-4, SOST2	uc001ndn.4	O75096	OTTHUMG00000166700	ENST00000378623.1:c.3874A>C	11.37:g.46897058T>G	ENSP00000367888:p.Asn1292His						p.N1292H	NM_002334.3	NP_002325.2	O75096	LRP4_HUMAN		Lung(87;0.159)	27	4116	-			1292					B2RN39|Q4AC85|Q5KTZ5	Missense_Mutation	SNP	ENST00000378623.1	37	c.3874A>C	CCDS31478.1	.	.	.	.	.	.	.	.	.	.	T	18.48	3.633918	0.67130	.	.	ENSG00000134569	ENST00000378623	D	0.91068	-2.78	5.78	5.78	0.91487	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.85682	D	0.000000	D	0.88426	0.6433	L	0.56199	1.76	0.80722	D	1	B	0.21520	0.057	B	0.24006	0.05	D	0.84435	0.0579	10	0.23302	T	0.38	.	16.1041	0.81209	0.0:0.0:0.0:1.0	.	1292	O75096	LRP4_HUMAN	H	1292	ENSP00000367888:N1292H	ENSP00000367888:N1292H	N	-	1	0	LRP4	46853634	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	4.872000	0.63050	2.216000	0.71823	0.454000	0.30748	AAC		0.597	LRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391133.1	NM_002334		15	30	0	0	0	1	0	15	30					G	46897058	T	G	46897058	3	3	240	1	0	0	0	0	1	0	0	0	8959	1812	63	5	1891	5	LRP4	11	46897058	Missense_Mutation	SNP	T	TCGA-HC-A4ZV-01A-11D-A26M-08	20215200	46897058	88109458	74	11236											
SSRP1	6749	broad.mit.edu	37	chr11	57100120	57100120	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	acaaagaacatctggcgctgGtccttgtggggtaacaaaaa	14	8	11	8	1	1	1	0	0	1	1	2	1	2	1	1	4	2	2	1	4	5	2			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr11:57100120G>T	ENST00000278412.2	-	6	1013	c.747C>A	c.(745-747)gaC>gaA	p.D249E		NM_003146.2	NP_003137.1	Q08945	SSRP1_HUMAN	structure specific recognition protein 1	249					DNA repair (GO:0006281)|DNA replication (GO:0006260)|gene expression (GO:0010467)|positive regulation of viral transcription (GO:0050434)|regulation of transcription, DNA-templated (GO:0006355)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|prostate(4)	23						TCTGGCGCTGGTCCTTGTGGG	0.488																																					Colon(89;1000 1340 6884 23013 41819)	ENST00000278412.2																			0				breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|prostate(4)	23						c.(745-747)gaC>gaA		structure specific recognition protein 1							86	85	85					11																	57100120		2201	4296	6497	SO:0001583	missense	6749				DNA repair|DNA replication|positive regulation of viral transcription|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction	chromosome|cytoplasm|nucleoplasm	DNA binding|protein binding	g.chr11:57100120G>T	M86737	CCDS7952.1	11q12	2008-02-05			ENSG00000149136	ENSG00000149136			11327	protein-coding gene	gene with protein product	"facilitates chromatin remodeling 80 kDa subunit"	604328				1372440	Standard	NM_003146		Approved	FACT80	uc001njt.3	Q08945	OTTHUMG00000167024	ENST00000278412.2:c.747C>A	11.37:g.57100120G>T	ENSP00000278412:p.Asp249Glu						p.D249E	NM_003146.2	NP_003137.1	Q08945	SSRP1_HUMAN			6	1013	-			249					Q5BJG8	Missense_Mutation	SNP	ENST00000278412.2	37	c.747C>A	CCDS7952.1	.	.	.	.	.	.	.	.	.	.	G	19.02	3.745746	0.69418	.	.	ENSG00000149136	ENST00000278412;ENST00000526696;ENST00000529002	T;T;T	0.51325	0.71;0.71;0.71	5.8	2.82	0.32997	.	0.000000	0.85682	D	0.000000	T	0.72518	0.3470	M	0.92317	3.295	0.53005	D	0.999965	D	0.89917	1.0	D	0.97110	1.0	T	0.74979	-0.3479	10	0.87932	D	0	.	10.2265	0.43229	0.1698:0.0:0.8302:0.0	.	249	Q08945	SSRP1_HUMAN	E	249;152;152	ENSP00000278412:D249E;ENSP00000431154:D152E;ENSP00000434546:D152E	ENSP00000278412:D249E	D	-	3	2	SSRP1	56856696	1.000000	0.71417	1.000000	0.80357	0.932000	0.56968	2.392000	0.44433	0.322000	0.23283	0.561000	0.74099	GAC		0.488	SSRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392460.1	NM_003146		11	18	1	0	1.08611e-07	1	1.22187e-07	11	18					T	57100120	G	T	57100120	3	4	240	1	0	0	0	0	1	0	0	0	15193	1252	44	5	1430	5	SSRP1	11	57100120	Missense_Mutation	SNP	G	TCGA-HC-A4ZV-01A-11D-A26M-08	10203062	57100120	77906396	75	11237											
CD248	57124	broad.mit.edu	37	chr11	66084351	66084351	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gccccccagctcgcggcaggCccgccaggcctccaggaagg	6	2	14	19	3	0	0	0	0	0	0	2	1	1	1	7	5	1	2	7	5	1	0			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr11:66084351C>T	ENST00000311330.3	-	1	164	c.148G>A	c.(148-150)Gcc>Acc	p.A50T	RP11-867G23.13_ENST00000534065.1_RNA	NM_020404.2	NP_065137.1	Q9HCU0	CD248_HUMAN	CD248 molecule, endosialin	50	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				anatomical structure regression (GO:0060033)|cell migration (GO:0016477)|lymph node development (GO:0048535)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell apoptotic process (GO:2000353)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|extracellular matrix binding (GO:0050840)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	26						TCGCGGCAGGCCCGCCAGGCC	0.766																																						ENST00000311330.3																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	26						c.(148-150)Gcc>Acc		CD248 molecule, endosialin	Cefalotin(DB00456)						3	4	4					11																	66084351		1501	3248	4749	SO:0001583	missense	57124					integral to membrane|proteinaceous extracellular matrix	calcium ion binding|sugar binding	g.chr11:66084351C>T	AF279142	CCDS8134.1	11q13	2006-04-12	2006-03-28	2005-02-11	ENSG00000174807	ENSG00000174807		"CD molecules"	18219	protein-coding gene	gene with protein product	"endosialin", "tumor endothelial marker 1"	606064	"CD164 sialomucin-like 1", "CD248 antigen, endosialin"	CD164L1		10947988, 11084048	Standard	NM_020404		Approved	TEM1	uc001ohm.1	Q9HCU0	OTTHUMG00000167073	ENST00000311330.3:c.148G>A	11.37:g.66084351C>T	ENSP00000308117:p.Ala50Thr					RP11-867G23.13_ENST00000534065.1_RNA	p.A50T	NM_020404.2	NP_065137.1	Q9HCU0	CD248_HUMAN			1	164	-			50			C-type lectin.		Q2M2V5|Q3SX55|Q96KB6	Missense_Mutation	SNP	ENST00000311330.3	37	c.148G>A	CCDS8134.1	.	.	.	.	.	.	.	.	.	.	c	18.19	3.569839	0.65765	.	.	ENSG00000174807	ENST00000311330	T	0.55234	0.53	3.63	2.7	0.31948	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	0.565488	0.16163	N	0.226649	T	0.44095	0.1277	L	0.38175	1.15	0.29805	N	0.832145	B	0.31989	0.35	B	0.38712	0.28	T	0.40646	-0.9552	10	0.24483	T	0.36	-10.8766	10.1258	0.42649	0.2006:0.7994:0.0:0.0	.	50	Q9HCU0	CD248_HUMAN	T	50	ENSP00000308117:A50T	ENSP00000308117:A50T	A	-	1	0	CD248	65840927	0.008000	0.16893	1.000000	0.80357	0.997000	0.91878	0.029000	0.13666	0.706000	0.31912	0.556000	0.70494	GCC		0.766	CD248-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392922.2	NM_020404		6	5	0	0	0	1	0	6	5					T	66084351	C	T	66084351	3	4	240	1	0	0	0	0	1	0	0	0	2989	739	26	3	2129	3	CD248	11	66084351	Missense_Mutation	SNP	C	TCGA-HC-A4ZV-01A-11D-A26M-08	8984231	66084351	68922165	76	11238											
KDM2A	22992	broad.mit.edu	37	chr11	67017956	67017956	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggacatccattgtgcccaagCtgcaggccatcacggcctcc	8	7	10	16	1	1	0	1	0	0	0	3	1	3	1	5	3	3	2	5	3	1	1			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr11:67017956C>A	ENST00000529006.2	+	17	2901	c.2455C>A	c.(2455-2457)Ctg>Atg	p.L819M	KDM2A_ENST00000526258.1_3'UTR|KDM2A_ENST00000398645.2_Intron|KDM2A_ENST00000530342.1_Missense_Mutation_p.L380M|KDM2A_ENST00000308783.5_Missense_Mutation_p.L277M	NM_012308.2	NP_036440.1	Q9Y2K7	KDM2A_HUMAN	lysine (K)-specific demethylase 2A	819					histone H3-K36 demethylation (GO:0070544)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleus (GO:0005634)	histone demethylase activity (H3-K36 specific) (GO:0051864)|unmethylated CpG binding (GO:0045322)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|urinary_tract(2)	36						TGTGCCCAAGCTGCAGGCCAT	0.622																																						ENST00000529006.2																			0				NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|urinary_tract(2)	36						c.(2455-2457)Ctg>Atg		lysine (K)-specific demethylase 2A							54	61	58					11																	67017956		2129	4231	6360	SO:0001583	missense	22992				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding	g.chr11:67017956C>A	BC047486	CCDS44657.1, CCDS58148.1	11q13.1	2014-02-18	2009-04-06	2009-04-06	ENSG00000173120	ENSG00000173120		"F-boxes / Leucine-rich repeats", "Chromatin-modifying enzymes / K-demethylases"	13606	protein-coding gene	gene with protein product	"F-box protein FBL11", "jumonji C domain-containing histone demethylase 1A"	605657	"F-box and leucine-rich repeat protein 11"	FBXL11		10231032, 10531037	Standard	NM_012308		Approved	KIAA1004, FBL11, LILINA, DKFZP434M1735, FBL7, FLJ00115, CXXC8, JHDM1A	uc001ojw.3	Q9Y2K7	OTTHUMG00000167103	ENST00000529006.2:c.2455C>A	11.37:g.67017956C>A	ENSP00000432786:p.Leu819Met					KDM2A_ENST00000530342.1_Missense_Mutation_p.L380M|KDM2A_ENST00000526258.1_3'UTR|KDM2A_ENST00000398645.2_Intron|KDM2A_ENST00000308783.5_Missense_Mutation_p.L277M	p.L819M	NM_012308.2	NP_036440.1	Q9Y2K7	KDM2A_HUMAN			17	2901	+			819					D4QA03|E9PIL6|I3VM55|Q49A21|Q4G0M3|Q69YY8|Q9BVH5|Q9H7H5|Q9UK66	Missense_Mutation	SNP	ENST00000529006.2	37	c.2455C>A	CCDS44657.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.54|15.54	2.864853|2.864853	0.51482|0.51482	.|.	.|.	ENSG00000173120|ENSG00000173120	ENST00000446134|ENST00000529006;ENST00000530342;ENST00000308783	.|T;T;T	.|0.26957	.|2.07;1.7;1.77	5.8|5.8	5.8|5.8	0.92144|0.92144	.|.	.|0.147803	.|0.47455	.|D	.|0.000240	.|T	.|0.31389	.|0.0795	N|N	0.08118|0.08118	0|0	0.54753|0.54753	D|D	0.99998|0.99998	.|D;D	.|0.69078	.|0.997;0.997	.|D;D	.|0.72982	.|0.96;0.979	.|T	.|0.24799	.|-1.0150	.|9	.|.	.|.	.|.	.|-4.0851	18.2277|18.2277	0.89923|0.89923	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|277;819	.|D4QA03;Q9Y2K7	.|.;KDM2A_HUMAN	.|M	-1|819;380;277	.|ENSP00000432786:L819M;ENSP00000435776:L380M;ENSP00000309302:L277M	.|.	.|L	+|+	.|1	.|2	KDM2A|KDM2A	66774532|66774532	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	2.469000|2.469000	0.45110|0.45110	2.731000|2.731000	0.93534|0.93534	0.655000|0.655000	0.94253|0.94253	.|CTG		0.622	KDM2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393140.2	NM_012308		12	52	1	0	0.00185496	1	0.00195132	12	52					A	67017956	C	A	67017956	3	1	240	1	0	0	0	0	1	0	0	0	8124	796	28	5	2517	5	KDM2A	11	67017956	Missense_Mutation	SNP	C	TCGA-HC-A4ZV-01A-11D-A26M-08	933605	67017956	67988560	77	11239											
ME3	10873	broad.mit.edu	37	chr11	86160951	86160951	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgacaatgagccctttagAgtccaccatccagatctttc	10	12	6	13	0	1	4	0	2	1	2	4	4	3	4	4	0	1	0	4	0	2	4			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr11:86160951A>T	ENST00000393324.3	-	9	1364	c.1111T>A	c.(1111-1113)Tct>Act	p.S371T	RP11-317J19.1_ENST00000524610.1_RNA|ME3_ENST00000543262.1_Missense_Mutation_p.S371T|ME3_ENST00000359636.2_Missense_Mutation_p.S371T	NM_001014811.1	NP_001014811.1	Q16798	MAON_HUMAN	malic enzyme 3, NADP(+)-dependent, mitochondrial	371					aerobic respiration (GO:0009060)|malate metabolic process (GO:0006108)|oxidation-reduction process (GO:0055114)|oxygen metabolic process (GO:0072592)|pyruvate metabolic process (GO:0006090)	mitochondrion (GO:0005739)	cofactor binding (GO:0048037)|malate dehydrogenase (decarboxylating) (NAD+) activity (GO:0004471)|malate dehydrogenase (decarboxylating) (NADP+) activity (GO:0004473)|malic enzyme activity (GO:0004470)|metal ion binding (GO:0046872)|NAD binding (GO:0051287)|oxaloacetate decarboxylase activity (GO:0008948)			endometrium(4)|kidney(1)|large_intestine(7)|lung(7)|ovary(2)|skin(3)|stomach(2)|urinary_tract(1)	27		Acute lymphoblastic leukemia(157;4.34e-06)|all_hematologic(158;0.00252)				AGCCCTTTAGAGTCCACCATC	0.527																																						ENST00000543262.1																			0				endometrium(4)|kidney(1)|large_intestine(7)|lung(7)|ovary(2)|skin(3)|stomach(2)|urinary_tract(1)	27						c.(1111-1113)Tct>Act		malic enzyme 3, NADP(+)-dependent, mitochondrial	NADH(DB00157)						183	170	174					11																	86160951		2202	4299	6501	SO:0001583	missense	10873				aerobic respiration|malate metabolic process|oxygen metabolic process|pyruvate metabolic process	mitochondrial matrix	malate dehydrogenase (oxaloacetate-decarboxylating) (NADP+) activity|metal ion binding|NAD binding	g.chr11:86160951A>T	X79440	CCDS8277.1	11q14.2	2012-09-20			ENSG00000151376	ENSG00000151376	1.1.1.40		6985	protein-coding gene	gene with protein product		604626				7818469	Standard	NM_001161586		Approved		uc001pbz.3	Q16798	OTTHUMG00000167217	ENST00000393324.3:c.1111T>A	11.37:g.86160951A>T	ENSP00000376998:p.Ser371Thr					RP11-317J19.1_ENST00000524610.1_RNA|ME3_ENST00000393324.3_Missense_Mutation_p.S371T|ME3_ENST00000359636.2_Missense_Mutation_p.S371T	p.S371T	NM_001161586.1	NP_001155058.1	Q16798	MAON_HUMAN			10	1437	-		Acute lymphoblastic leukemia(157;4.34e-06)|all_hematologic(158;0.00252)	371					B7Z6V0|Q8TBJ0	Missense_Mutation	SNP	ENST00000393324.3	37	c.1111T>A	CCDS8277.1	.	.	.	.	.	.	.	.	.	.	A	17.73	3.462156	0.63513	.	.	ENSG00000151376	ENST00000359636;ENST00000543262;ENST00000393324;ENST00000524826	T;T;T;T	0.31769	1.48;1.48;1.48;1.48	5.7	4.54	0.55810	Malic enzyme, NAD-binding (2);NAD(P)-binding domain (1);	0.098299	0.64402	D	0.000001	T	0.34861	0.0912	M	0.72353	2.195	0.80722	D	1	B	0.11235	0.004	B	0.25506	0.061	T	0.09357	-1.0678	9	.	.	.	.	12.8352	0.57770	0.8636:0.1364:0.0:0.0	.	371	Q16798	MAON_HUMAN	T	371	ENSP00000352657:S371T;ENSP00000440246:S371T;ENSP00000376998:S371T;ENSP00000431182:S371T	.	S	-	1	0	ME3	85838599	1.000000	0.71417	0.422000	0.26621	0.983000	0.72400	9.204000	0.95041	0.963000	0.38082	0.528000	0.53228	TCT		0.527	ME3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393767.2			26	62	0	0	0	1	0	26	62					T	86160951	A	T	86160951	3	4	240	1	0	0	0	0	1	0	0	0	9419	304	11	5	727	5	ME3	11	86160951	Missense_Mutation	SNP	A	TCGA-HC-A4ZV-01A-11D-A26M-08	19142995	86160951	48845565	78	11240											
FAT3	120114	broad.mit.edu	37	chr11	92086237	92086237	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctggctaaggaaggaaagtGgttgaatgagtacaagatta	15	9	13	4	0	0	3	0	2	0	1	0	5	0	5	1	4	1	3	1	4	7	4			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr11:92086237G>A	ENST00000298047.6	+	1	976	c.959G>A	c.(958-960)tGg>tAg	p.W320*	FAT3_ENST00000409404.2_Nonsense_Mutation_p.W320*|FAT3_ENST00000541502.1_Nonsense_Mutation_p.W320*|FAT3_ENST00000525166.1_Nonsense_Mutation_p.W170*			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	320	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				GAAGGAAAGTGGTTGAATGAG	0.448										TCGA Ovarian(4;0.039)																												ENST00000298047.6																			0				NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85						c.(958-960)tGg>tAg		FAT atypical cadherin 3							75	70	72					11																	92086237		1951	4153	6104	SO:0001587	stop_gained	120114				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr11:92086237G>A	AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"Cadherins / Cadherin-related"	23112	protein-coding gene	gene with protein product	"cadherin-related family member 10"	612483	"FAT tumor suppressor homolog 3 (Drosophila)"			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.959G>A	11.37:g.92086237G>A	ENSP00000298047:p.Trp320*	TCGA Ovarian(4;0.039)				FAT3_ENST00000409404.2_Nonsense_Mutation_p.W320*|FAT3_ENST00000541502.1_Nonsense_Mutation_p.W320*|FAT3_ENST00000525166.1_Nonsense_Mutation_p.W170*	p.W320*			Q8TDW7	FAT3_HUMAN			1	976	+		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)	320			Cadherin 3.		B5MDB0|Q96AU6	Nonsense_Mutation	SNP	ENST00000298047.6	37	c.959G>A		.	.	.	.	.	.	.	.	.	.	G	38	6.875215	0.97904	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000541502;ENST00000525166	.	.	.	5.2	5.2	0.72013	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.37606	T	0.19	.	18.075	0.89424	0.0:0.0:1.0:0.0	.	.	.	.	X	320;320;320;170	.	ENSP00000298047:W320X	W	+	2	0	FAT3	91725885	1.000000	0.71417	0.998000	0.56505	0.990000	0.78478	6.859000	0.75467	2.568000	0.86640	0.557000	0.71058	TGG		0.448	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781		4	14	0	0	0	1	0	4	14					A	92086237	G	A	92086237	4	1	240	1	0	0	0	0	0	1	0	0	5691	1357	47	3	961	3	FAT3	11	92086237	Nonsense_Mutation	SNP	G	TCGA-HC-A4ZV-01A-11D-A26M-08	5925286	92086237	42920279	79	11241											
FOLR4	390243	broad.mit.edu	37	chr11	94039857	94039857	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctccccaaacctggggccctGgatccagccagtgggaagcc	8	5	12	16	0	0	0	0	0	0	0	2	2	2	2	7	4	3	0	7	4	2	0			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr11:94039857G>A	ENST00000440961.2	+	2	361	c.317G>A	c.(316-318)tGg>tAg	p.W106*		NM_001199206.1	NP_001186135.1	A6ND01	JUNO_HUMAN	folate receptor 4, delta (putative)	106					cell adhesion (GO:0007155)|fusion of sperm to egg plasma membrane (GO:0007342)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	14						CTGGGGCCCTGGATCCAGCCA	0.537																																						ENST00000440961.2																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	14						c.(316-318)tGg>tAg		folate receptor 4, delta (putative)							45	47	47					11																	94039857		2010	4203	6213	SO:0001587	stop_gained	390243					extracellular region	folic acid binding|receptor activity	g.chr11:94039857G>A			11q14	2014-07-23	2012-12-07		ENSG00000183560	ENSG00000183560			32565	protein-coding gene	gene with protein product		615737	"folate receptor 4 (delta) homolog (mouse)"			11111049, 24739963	Standard	NM_001199206		Approved	Folbp3, JUNO	uc021qou.1	A6ND01		ENST00000440961.2:c.317G>A	11.37:g.94039857G>A	ENSP00000416935:p.Trp106*						p.W106*	NM_001199206.1	NP_001186135.1	A6ND01	FOLR4_HUMAN			2	361	+			106						Nonsense_Mutation	SNP	ENST00000440961.2	37	c.317G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	28.8|28.8	4.952445|4.952445	0.92660|0.92660	.|.	.|.	ENSG00000183560|ENSG00000183560	ENST00000328458|ENST00000440961	.|.	.|.	.|.	4.75|4.75	4.75|4.75	0.60458|0.60458	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|.	0.66458|.	0.2791|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.69450|.	-0.5142|.	3|.	.|.	.|.	.|.	-6.2959|-6.2959	15.6255|15.6255	0.76851|0.76851	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	R|X	100|106	.|.	.|.	G|W	+|+	1|2	0|0	FOLR4|FOLR4	93679505|93679505	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.937000|0.937000	0.57800|0.57800	9.234000|9.234000	0.95347|0.95347	2.635000|2.635000	0.89317|0.89317	0.561000|0.561000	0.74099|0.74099	GGA|TGG		0.537	FOLR4-002	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000396420.1	NM_001080486		13	29	0	0	0	1	0	13	29					A	94039857	G	A	94039857	4	1	240	1	0	0	0	0	0	1	0	0	5984	1357	47	3	323	3	FOLR4	11	94039857	Nonsense_Mutation	SNP	G	TCGA-HC-A4ZV-01A-11D-A26M-08	1953620	94039857	40966659	80	11242											
ATM	472	broad.mit.edu	37	chr11	108214036	108214036	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttcttgttaacaatgaagatGgtgctcataaaagatacagg	15	12	9	5	0	2	3	1	1	1	2	2	3	2	3	0	2	3	2	0	2	6	5			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr11:108214036G>A	ENST00000452508.2	+	58	8545	c.8356G>A	c.(8356-8358)Ggt>Agt	p.G2786S	C11orf65_ENST00000526725.1_Intron|ATM_ENST00000278616.4_Missense_Mutation_p.G2786S|C11orf65_ENST00000525729.1_Intron			Q13315	ATM_HUMAN	ATM serine/threonine kinase	2786	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.				brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|DNA damage induced protein phosphorylation (GO:0006975)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|heart development (GO:0007507)|histone mRNA catabolic process (GO:0071044)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|lipoprotein catabolic process (GO:0042159)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of B cell proliferation (GO:0030889)|neuron apoptotic process (GO:0051402)|oocyte development (GO:0048599)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of neuron apoptotic process (GO:0043525)|pre-B cell allelic exclusion (GO:0002331)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reciprocal meiotic recombination (GO:0007131)|replicative senescence (GO:0090399)|response to hypoxia (GO:0001666)|response to ionizing radiation (GO:0010212)|signal transduction (GO:0007165)|signal transduction involved in mitotic G2 DNA damage checkpoint (GO:0072434)|somitogenesis (GO:0001756)|telomere maintenance (GO:0000723)	cytoplasmic vesicle (GO:0031410)|nucleoplasm (GO:0005654)|spindle (GO:0005819)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|histone serine kinase activity (GO:0035174)|protein complex binding (GO:0032403)|protein dimerization activity (GO:0046983)|protein N-terminus binding (GO:0047485)|protein serine/threonine kinase activity (GO:0004674)			NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	Caffeine(DB00201)	CAATGAAGATGGTGCTCATAA	0.413			"D, Mis, N, F, S"		T-PLL	"leukemia, lymphoma, medulloblastoma, glioma"		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)																												ENST00000278616.4			yes	Rec	yes	Ataxia-telangiectasia	11	11q22.3	472	"D, Mis, N, F, S"	ataxia telangiectasia mutated			"L, O"		"leukemia, lymphoma, medulloblastoma, glioma"	T-PLL		0				NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448						c.(8356-8358)Ggt>Agt	Genes defective in diseases associated with sensitivity to DNA damaging agents	ataxia telangiectasia mutated							146	131	136					11																	108214036		2201	4298	6499	SO:0001583	missense	472	Ataxia Telangiectasia	Familial Cancer Database	AT, Louis-Bar syndrome	cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding	g.chr11:108214036G>A	AB209133	CCDS31669.1	11q22-q23	2014-09-17	2014-06-17		ENSG00000149311	ENSG00000149311			795	protein-coding gene	gene with protein product	"TEL1, telomere maintenance 1, homolog (S. cerevisiae)"	607585	"ataxia telangiectasia mutated (includes complementation groups A, C and D)", "ataxia telangiectasia mutated"	ATA, ATDC, ATC, ATD			Standard	XM_005271561		Approved	TEL1, TELO1	uc001pkb.1	Q13315	OTTHUMG00000166480	ENST00000452508.2:c.8356G>A	11.37:g.108214036G>A	ENSP00000388058:p.Gly2786Ser	TSP Lung(14;0.12)				C11orf65_ENST00000526725.1_Intron|ATM_ENST00000452508.2_Missense_Mutation_p.G2786S|C11orf65_ENST00000525729.1_Intron	p.G2786S	NM_000051.3	NP_000042.3	Q13315	ATM_HUMAN		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	57	8741	+		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)	2786			PI3K/PI4K.		B2RNX5|O15429|Q12758|Q16551|Q93007|Q9NP02|Q9UCX7	Missense_Mutation	SNP	ENST00000452508.2	37	c.8356G>A	CCDS31669.1	.	.	.	.	.	.	.	.	.	.	G	29.5	5.008396	0.93346	.	.	ENSG00000149311	ENST00000278616;ENST00000452508	T;T	0.75704	-0.96;-0.96	5.56	4.64	0.57946	Protein kinase-like domain (1);Armadillo-type fold (1);Phosphatidylinositol 3-/4-kinase, catalytic (3);	0.095716	0.64402	D	0.000001	T	0.80798	0.4692	L	0.46670	1.46	0.80722	D	1	D	0.76494	0.999	D	0.85130	0.997	T	0.80621	-0.1301	10	0.48119	T	0.1	.	11.7283	0.51722	0.1428:0.0:0.8572:0.0	.	2786	Q13315	ATM_HUMAN	S	2786	ENSP00000278616:G2786S;ENSP00000388058:G2786S	ENSP00000278616:G2786S	G	+	1	0	ATM	107719246	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	7.638000	0.83328	1.481000	0.48307	0.561000	0.74099	GGT		0.413	ATM-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389938.1	NM_000051		19	59	0	0	0	1	0	19	59					A	108214036	G	A	108214036	3	1	240	1	0	0	0	0	1	0	0	0	1109	1348	47	3	8578	3	ATM	11	108214036	Missense_Mutation	SNP	G	TCGA-HC-A4ZV-01A-11D-A26M-08	14174179	108214036	26792480	81	11243											
PCSK7	9159	broad.mit.edu	37	chr11	117079654	117079654	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgatgagggacatcatgccActggggcagaacagcttcag	11	6	13	11	1	2	2	2	1	0	1	2	4	2	3	2	3	3	2	2	3	1	1	rs471009		TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr11:117079654A>T	ENST00000320934.3	-	13	2280	c.1650T>A	c.(1648-1650)agT>agA	p.S550R	PCSK7_ENST00000540028.1_Missense_Mutation_p.S191R|PCSK7_ENST00000529458.1_5'Flank	NM_004716.2	NP_004707.2	Q16549	PCSK7_HUMAN	proprotein convertase subtilisin/kexin type 7	550					peptide hormone processing (GO:0016486)|protein processing (GO:0016485)	integral component of Golgi membrane (GO:0030173)	peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)			NS(1)|endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|skin(1)	16	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.72e-06)|Epithelial(105;6.71e-05)|all cancers(92;0.000537)		ACATCATGCCACTGGGGCAGA	0.607			T	IGH@	MLCLS																																	ENST00000320934.3				Dom	yes		11	11q23.3	9159	T	proprotein convertase subtilisin/kexin type 7			L	IGH@		MLCLS		0				NS(1)|endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|skin(1)	16						c.(1648-1650)agT>agA		proprotein convertase subtilisin/kexin type 7							59	60	59					11																	117079654		2201	4296	6497	SO:0001583	missense	9159				peptide hormone processing	integral to Golgi membrane	serine-type endopeptidase activity	g.chr11:117079654A>T	U40623	CCDS8382.1	11q23-q24	2008-02-01			ENSG00000160613	ENSG00000160613			8748	protein-coding gene	gene with protein product		604872				8615762, 9820811	Standard	XM_006718938		Approved	PC7, PC8, LPC, SPC7	uc001pqr.3	Q16549	OTTHUMG00000165640	ENST00000320934.3:c.1650T>A	11.37:g.117079654A>T	ENSP00000325917:p.Ser550Arg					PCSK7_ENST00000540028.1_Missense_Mutation_p.S191R	p.S550R	NM_004716.2	NP_004707.2	Q16549	PCSK7_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.72e-06)|Epithelial(105;6.71e-05)|all cancers(92;0.000537)	13	2280	-	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)	550			Homo B/P.		B0YJ60|Q3C1X1|Q53GM4|Q96FK8|Q9UL57	Missense_Mutation	SNP	ENST00000320934.3	37	c.1650T>A	CCDS8382.1	14	0.00641025641025641	4	0.008130081300813009	0	0.0	5	0.008741258741258742	5	0.006596306068601583	G	13.99	2.403210	0.42613	.	.	ENSG00000160613	ENST00000320934;ENST00000540028;ENST00000543900	T;T	0.78364	-1.17;-1.17	4.68	-1.84	0.07809	Proprotein convertase, P (1);Galactose-binding domain-like (1);	0.043659	0.85682	D	0.000000	T	0.79227	0.4410	M	0.66378	2.025	0.53005	D	0.999965	D	0.69078	0.997	D	0.73380	0.98	T	0.78984	-0.1988	10	0.59425	D	0.04	-16.1089	12.2196	0.54428	0.5973:0.0:0.4027:0.0	rs471009;rs3741289	550	Q16549	PCSK7_HUMAN	R	550;191;550	ENSP00000325917:S550R;ENSP00000441944:S191R	ENSP00000325917:S550R	S	-	3	2	PCSK7	116584864	0.024000	0.19004	0.958000	0.39756	0.007000	0.05969	-0.746000	0.04829	-0.944000	0.03686	-2.386000	0.00229	AGT		0.607	PCSK7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385529.2	NM_004716		3	17	0	0	0	1	0	3	17					T	117079654	A	T	117079654	3	4	240	1	0	0	0	0	1	0	0	0	11605	156	6	5	727	5	PCSK7	11	117079654	Missense_Mutation	SNP	A	TCGA-HC-A4ZV-01A-11D-A26M-08	8865618	117079654	17926862	82	11244											
THYN1	29087	broad.mit.edu	37	chr11	134120183	134120183	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcttacctggtagttacgaaCaccatcccagcatgttgtct	9	13	7	12	1	2	0	0	0	2	0	3	1	3	0	3	1	4	4	3	1	4	4			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr11:134120183C>T	ENST00000341541.3	-	3	738	c.277G>A	c.(277-279)Gtt>Att	p.V93I	THYN1_ENST00000392595.2_Missense_Mutation_p.V93I|THYN1_ENST00000392594.3_Missense_Mutation_p.V93I|THYN1_ENST00000352327.5_Missense_Mutation_p.V93I|THYN1_ENST00000525677.1_5'Flank	NM_014174.2	NP_054893.1	Q9P016	THYN1_HUMAN	thymocyte nuclear protein 1	93						nucleus (GO:0005634)				endometrium(2)|kidney(1)|lung(3)|pancreas(1)	7	all_hematologic(175;0.127)	all_cancers(12;1.1e-21)|all_epithelial(12;3.77e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;1.68e-10)|all cancers(11;1.95e-09)|BRCA - Breast invasive adenocarcinoma(10;8.45e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.00148)|Lung(977;0.207)		TAGTTACGAACACCATCCCAG	0.493																																						ENST00000341541.3																			0				endometrium(2)|kidney(1)|lung(3)|pancreas(1)	7						c.(277-279)Gtt>Att		thymocyte nuclear protein 1							155	137	143					11																	134120183		2201	4297	6498	SO:0001583	missense	29087					nucleus		g.chr11:134120183C>T	BC006978	CCDS8496.1, CCDS8497.1	11q25	2006-02-09			ENSG00000151500	ENSG00000151500			29560	protein-coding gene	gene with protein product		613739				14601557, 12384300	Standard	NM_014174		Approved	THY28	uc001qhg.3	Q9P016	OTTHUMG00000167176	ENST00000341541.3:c.277G>A	11.37:g.134120183C>T	ENSP00000341657:p.Val93Ile					THYN1_ENST00000352327.5_Missense_Mutation_p.V93I|THYN1_ENST00000392594.3_Missense_Mutation_p.V93I|THYN1_ENST00000392595.2_Missense_Mutation_p.V93I	p.V93I	NM_014174.2	NP_054893.1	Q9P016	THYN1_HUMAN		Epithelial(10;1.68e-10)|all cancers(11;1.95e-09)|BRCA - Breast invasive adenocarcinoma(10;8.45e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.00148)|Lung(977;0.207)	3	738	-	all_hematologic(175;0.127)	all_cancers(12;1.1e-21)|all_epithelial(12;3.77e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)	93					Q567Q2|Q9H3L4|Q9HC20	Missense_Mutation	SNP	ENST00000341541.3	37	c.277G>A	CCDS8496.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.165321	0.78339	.	.	ENSG00000151500	ENST00000392595;ENST00000341541;ENST00000392594;ENST00000352327;ENST00000534274	.	.	.	5.73	4.82	0.62117	EVE domain (2);PUA-like domain (1);	0.000000	0.85682	D	0.000000	T	0.77605	0.4155	M	0.76433	2.335	0.80722	D	1	D;P;P	0.89917	1.0;0.94;0.925	D;P;P	0.87578	0.998;0.593;0.782	T	0.77054	-0.2730	9	0.33940	T	0.23	-15.0393	14.6915	0.69091	0.0:0.9304:0.0:0.0696	.	93;93;93	E9PPQ6;Q9P016-2;Q9P016	.;.;THYN1_HUMAN	I	93	.	ENSP00000341657:V93I	V	-	1	0	THYN1	133625393	1.000000	0.71417	0.998000	0.56505	0.819000	0.46315	5.633000	0.67825	1.442000	0.47568	-0.136000	0.14681	GTT		0.493	THYN1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393599.1	NM_014174		8	28	0	0	0	1	0	8	28					T	134120183	C	T	134120183	3	4	240	1	0	0	0	0	1	0	0	0	15883	478	17	3	420	3	THYN1	11	134120183	Missense_Mutation	SNP	C	TCGA-HC-A4ZV-01A-11D-A26M-08	17040529	134120183	886333	83	11245											
WNK1	65125	broad.mit.edu	37	chr12	863369	863369	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gctggagaccaaggccgtggGaatgtctaacgatggccgct	9	7	15	10	3	1	1	0	0	1	1	1	4	1	2	3	4	1	2	3	4	3	1			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr12:863369G>A	ENST00000315939.6	+	1	1281	c.638G>A	c.(637-639)gGa>gAa	p.G213E	WNK1_ENST00000535572.1_Missense_Mutation_p.G213E|WNK1_ENST00000447667.2_Missense_Mutation_p.G213E|WNK1_ENST00000537687.1_Missense_Mutation_p.G213E|WNK1_ENST00000530271.2_Missense_Mutation_p.G213E	NM_018979.3	NP_061852.3	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1	213					intracellular signal transduction (GO:0035556)|ion transport (GO:0006811)|negative regulation of pancreatic juice secretion (GO:0090188)|negative regulation of phosphatase activity (GO:0010923)|neuron development (GO:0048666)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of systemic arterial blood pressure (GO:0003084)|protein phosphorylation (GO:0006468)|regulation of cellular process (GO:0050794)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|chloride channel inhibitor activity (GO:0019869)|phosphatase binding (GO:0019902)|protein kinase inhibitor activity (GO:0004860)|protein serine/threonine kinase activity (GO:0004674)			breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			AAGGCCGTGGGAATGTCTAAC	0.577																																					Colon(19;451 567 6672 12618 28860)	ENST00000537687.1																			0				breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104						c.(637-639)gGa>gAa		WNK lysine deficient protein kinase 1							65	66	65					12																	863369		2203	4300	6503	SO:0001583	missense	65125				intracellular protein kinase cascade|ion transport|neuron development	cytoplasm	ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity	g.chr12:863369G>A	AJ296290	CCDS8506.1, CCDS53731.1, CCDS73419.1	12p13.3	2014-09-17	2005-01-19	2005-01-21	ENSG00000060237	ENSG00000060237			14540	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 167"	605232	"protein kinase, lysine deficient 1", "hereditary sensory neuropathy, type II"	PRKWNK1, HSN2			Standard	NM_001184985		Approved	HSAN2, PPP1R167	uc031qfk.1	Q9H4A3	OTTHUMG00000090321	ENST00000315939.6:c.638G>A	12.37:g.863369G>A	ENSP00000313059:p.Gly213Glu					WNK1_ENST00000530271.2_Missense_Mutation_p.G213E|WNK1_ENST00000535572.1_Missense_Mutation_p.G213E|WNK1_ENST00000447667.2_Missense_Mutation_p.G213E|WNK1_ENST00000315939.6_Missense_Mutation_p.G213E	p.G213E	NM_001184985.1|NM_213655.4	NP_001171914.1|NP_998820.3	Q9H4A3	WNK1_HUMAN	Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)		1	1281	+	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		213					A1L4B0|C5HTZ5|C5HTZ6|C5HTZ7|H6WZW3|O15052|P54963|Q4VBX9|Q6IFS5|Q86WL5|Q8N673|Q96CZ6|Q9P1S9	Missense_Mutation	SNP	ENST00000315939.6	37	c.638G>A	CCDS8506.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.142391	0.77888	.	.	ENSG00000060237	ENST00000535572;ENST00000315939;ENST00000537687;ENST00000447667;ENST00000530271	T;T;T;T;T	0.72942	-0.56;-0.55;-0.49;-0.7;-0.52	4.63	4.63	0.57726	Protein kinase-like domain (1);	0.000000	0.56097	D	0.000039	T	0.65595	0.2706	N	0.02775	-0.495	0.80722	D	1	D;D;D	0.76494	0.999;0.998;0.994	D;D;P	0.70227	0.968;0.93;0.828	T	0.76002	-0.3118	10	0.87932	D	0	-9.6279	14.2198	0.65818	0.0:0.1499:0.8501:0.0	.	213;213;213	F5GWT4;Q9H4A3;F6UYG0	.;WNK1_HUMAN;.	E	213	ENSP00000441972:G213E;ENSP00000313059:G213E;ENSP00000444465:G213E;ENSP00000392542:G213E;ENSP00000433548:G213E	ENSP00000313059:G213E	G	+	2	0	WNK1	733630	1.000000	0.71417	0.993000	0.49108	0.996000	0.88848	5.319000	0.65835	2.412000	0.81896	0.655000	0.94253	GGA		0.577	WNK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206683.1	NM_018979		6	54	0	0	0	1	0	6	54					A	863369	G	A	863369	3	1	240	1	0	0	0	0	1	0	0	0	17374	1174	41	3	640	3	WNK1	12	863369	Missense_Mutation	SNP	G	TCGA-HC-A4ZV-01A-11D-A26M-08		863369	132988526	84	11246											
PZP	5858	broad.mit.edu	37	chr12	9317890	9317890	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aagtccagcatcttcggacaGgcagaaggcccctgccttcc	9	7	10	15	1	1	1	0	0	1	1	4	2	3	2	5	3	2	2	5	3	2	2			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr12:9317890G>T	ENST00000261336.2	-	19	2360	c.2332C>A	c.(2332-2334)Ctg>Atg	p.L778M	PZP_ENST00000381997.2_Missense_Mutation_p.L647M|PZP_ENST00000539983.1_5'UTR	NM_002864.2	NP_002855.2	P20742	PZP_HUMAN	pregnancy-zone protein	778					female pregnancy (GO:0007565)|negative regulation of endopeptidase activity (GO:0010951)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(21)|lung(46)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)	102						TCTTCGGACAGGCAGAAGGCC	0.562																																					Melanoma(125;1402 1695 4685 34487 38571)	ENST00000261336.2																			0				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(21)|lung(46)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)	102						c.(2332-2334)Ctg>Atg		pregnancy-zone protein							94	81	85					12																	9317890		2203	4300	6503	SO:0001583	missense	5858							g.chr12:9317890G>T	X54380, M24416, X51541	CCDS8600.1	12p13-p12.2	2008-02-01			ENSG00000126838	ENSG00000126838			9750	protein-coding gene	gene with protein product		176420					Standard	NM_002864		Approved	CPAMD6	uc001qvl.3	P20742	OTTHUMG00000154915	ENST00000261336.2:c.2332C>A	12.37:g.9317890G>T	ENSP00000261336:p.Leu778Met					PZP_ENST00000381997.2_Missense_Mutation_p.L647M|PZP_ENST00000539983.1_5'UTR	p.L778M	NM_002864.2	NP_002855.2					19	2360	-								A6ND27|Q15273|Q2NKL2|Q7M4N7	Missense_Mutation	SNP	ENST00000261336.2	37	c.2332C>A	CCDS8600.1	.	.	.	.	.	.	.	.	.	.	G	7.602	0.673019	0.14776	.	.	ENSG00000126838	ENST00000261336;ENST00000381997	T;T	0.31510	1.49;1.49	3.7	2.8	0.32819	Alpha-2-macroglobulin (1);	0.319058	0.22291	U	0.061981	T	0.38612	0.1047	L	0.51914	1.62	0.22591	N	0.998953	D;P;D	0.65815	0.995;0.494;0.988	D;B;D	0.70935	0.951;0.171;0.971	T	0.17440	-1.0369	10	0.35671	T	0.21	.	1.6231	0.02717	0.1988:0.1636:0.4696:0.168	.	778;647;778	B2R950;P20742-2;P20742	.;.;PZP_HUMAN	M	778;647	ENSP00000261336:L778M;ENSP00000371427:L647M	ENSP00000261336:L778M	L	-	1	2	PZP	9209157	0.062000	0.20869	0.992000	0.48379	0.035000	0.12851	-0.296000	0.08287	0.860000	0.35481	0.467000	0.42956	CTG		0.562	PZP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337624.1	NM_002864		20	58	1	0	5.03518e-11	1	5.86834e-11	20	58					T	9317890	G	T	9317890	3	4	240	1	0	0	0	0	1	0	0	0	12869	991	35	5	2188	5	PZP	12	9317890	Missense_Mutation	SNP	G	TCGA-HC-A4ZV-01A-11D-A26M-08	8454521	9317890	124534005	85	11247											
SLCO1B1	10599	broad.mit.edu	37	chr12	21392117	21392117	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggggcagatagtgaaacacaTtgttaaggggagaaaaaaag	18	6	14	3	0	0	3	0	1	0	2	0	4	0	3	0	4	1	2	0	4	6	3			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr12:21392117T>C	ENST00000256958.2	+	15	2166	c.2070T>C	c.(2068-2070)caT>caC	p.H690H		NM_006446.4	NP_006437.3	Q9Y6L6	SO1B1_HUMAN	solute carrier organic anion transporter family, member 1B1	690					bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|organic anion transport (GO:0015711)|small molecule metabolic process (GO:0044281)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	sodium-independent organic anion transmembrane transporter activity (GO:0015347)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	70					Acetylcysteine(DB06151)|Aminohippurate(DB00345)|Atorvastatin(DB01076)|Axitinib(DB06626)|Benzylpenicillin(DB01053)|Bezafibrate(DB01393)|Cabazitaxel(DB06772)|Caspofungin(DB00520)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Dabrafenib(DB08912)|Dextrothyroxine(DB00509)|Digoxin(DB00390)|Dinoprostone(DB00917)|Eltrombopag(DB06210)|Estradiol(DB00783)|Estrone(DB00655)|Ezetimibe(DB00973)|Fexofenadine(DB00950)|Fluvastatin(DB01095)|Gadoxetate(DB08884)|Gemfibrozil(DB01241)|Indinavir(DB00224)|Irinotecan(DB00762)|L-Carnitine(DB00583)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)|Lovastatin(DB00227)|Methotrexate(DB00563)|Mycophenolate mofetil(DB00688)|Nelfinavir(DB00220)|Olmesartan(DB00275)|Ouabain(DB01092)|Pantoprazole(DB00213)|Pazopanib(DB06589)|Penicillamine(DB00859)|Pioglitazone(DB01132)|Pitavastatin(DB08860)|Pravastatin(DB00175)|Quinidine(DB00908)|Repaglinide(DB00912)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|SIMEPREVIR(DB06290)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sumatriptan(DB00669)|Valsartan(DB00177)|Verapamil(DB00661)	GTGAAACACATTGTTAAGGGG	0.373																																						ENST00000256958.2																			0				breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	70						c.(2068-2070)caT>caC		solute carrier organic anion transporter family, member 1B1	Digoxin(DB00390)|Gemfibrozil(DB01241)|Pravastatin(DB00175)						81	90	87					12																	21392117		2203	4299	6502	SO:0001819	synonymous_variant	10599				bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|integral to plasma membrane|membrane fraction	bile acid transmembrane transporter activity|sodium-independent organic anion transmembrane transporter activity|thyroid hormone transmembrane transporter activity	g.chr12:21392117T>C		CCDS8685.1	12p12	2013-05-22	2003-11-25	2003-11-26	ENSG00000134538	ENSG00000134538		"Solute carriers"	10959	protein-coding gene	gene with protein product		604843	"solute carrier family 21 (organic anion transporter), member 6"	SLC21A6		10358072	Standard	NM_006446		Approved	OATP-C, LST-1, OATP1B1	uc001req.4	Q9Y6L6	OTTHUMG00000169047	ENST00000256958.2:c.2070T>C	12.37:g.21392117T>C							p.H690H	NM_006446.4	NP_006437.3	Q9Y6L6	SO1B1_HUMAN			15	2166	+			690					B2R7G2|Q29R64|Q9NQ37|Q9UBF3|Q9UH89	Silent	SNP	ENST00000256958.2	37	c.2070T>C	CCDS8685.1																																																																																				0.373	SLCO1B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402070.1	NM_006446		23	49	0	0	0	1	0	23	49					C	21392117	T	C	21392117	2	2	240	1	0	0	0	0	0	0	0	1	14723	1490	52	4		4	SLCO1B1	12	21392117	Silent	SNP	T	TCGA-HC-A4ZV-01A-11D-A26M-08	12074227	21392117	112459778	86	11248											
DNM1L	10059	broad.mit.edu	37	chr12	32886710	32886710	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaacatccagactttgctgAtgcttgtgggctaatgaaca	13	11	9	8	0	0	3	0	2	0	1	1	3	1	3	1	1	4	3	1	1	4	3			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr12:32886710A>T	ENST00000549701.1	+	13	1582	c.1508A>T	c.(1507-1509)gAt>gTt	p.D503V	DNM1L_ENST00000547312.1_Missense_Mutation_p.D503V|DNM1L_ENST00000266481.6_Missense_Mutation_p.D503V|DNM1L_ENST00000414834.2_Missense_Mutation_p.D300V|DNM1L_ENST00000553257.1_Missense_Mutation_p.D516V|DNM1L_ENST00000358214.5_Missense_Mutation_p.D516V|DNM1L_ENST00000381000.4_Missense_Mutation_p.D516V|YARS2_ENST00000551673.1_Intron|DNM1L_ENST00000452533.2_Missense_Mutation_p.D503V			O00429	DNM1L_HUMAN	dynamin 1-like	503	B domain.|Interaction with GSK3B.				apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|dynamin polymerization involved in mitochondrial fission (GO:0003374)|endocytosis (GO:0006897)|GTP catabolic process (GO:0006184)|membrane fission involved in mitochondrial fission (GO:0090149)|membrane fusion (GO:0061025)|mitochondrial fission (GO:0000266)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|mitochondrion morphogenesis (GO:0070584)|necroptotic process (GO:0070266)|peroxisome fission (GO:0016559)|positive regulation of apoptotic process (GO:0043065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial fission (GO:0090141)|positive regulation of protein secretion (GO:0050714)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|protein homotetramerization (GO:0051289)|protein localization to mitochondrion (GO:0070585)|regulation of mitochondrion organization (GO:0010821)|regulation of peroxisome organization (GO:1900063)|regulation of protein oligomerization (GO:0032459)|release of cytochrome c from mitochondria (GO:0001836)	cell junction (GO:0030054)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|microtubule (GO:0005874)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|perinuclear region of cytoplasm (GO:0048471)|peroxisome (GO:0005777)|protein complex (GO:0043234)|synapse (GO:0045202)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|lipid binding (GO:0008289)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	23	Lung NSC(5;2.15e-06)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)					GACTTTGCTGATGCTTGTGGG	0.308																																						ENST00000452533.2																			0				cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	23						c.(1507-1509)gAt>gTt		dynamin 1-like							185	189	188					12																	32886710		2203	4299	6502	SO:0001583	missense	10059				cellular component disassembly involved in apoptosis|mitochondrial fragmentation involved in apoptosis|mitochondrial membrane organization|positive regulation of mitochondrial fission	cis-Golgi network|cytosol|endomembrane system|endoplasmic reticulum|mitochondrial outer membrane	GTP binding|GTPase activity|ubiquitin protein ligase binding	g.chr12:32886710A>T	AF000430	CCDS8728.1, CCDS8729.1, CCDS8730.1, CCDS61095.1, CCDS61096.1, CCDS61098.1, CCDS61099.1	12p11.21	2012-10-02			ENSG00000087470	ENSG00000087470			2973	protein-coding gene	gene with protein product		603850				9348079, 9731200	Standard	NM_012062		Approved	DRP1, DVLP, HDYNIV, DYMPLE, VPS1	uc001rld.2	O00429	OTTHUMG00000169451	ENST00000549701.1:c.1508A>T	12.37:g.32886710A>T	ENSP00000450399:p.Asp503Val					YARS2_ENST00000551673.1_Intron|DNM1L_ENST00000553257.1_Missense_Mutation_p.D516V|DNM1L_ENST00000414834.2_Missense_Mutation_p.D300V|DNM1L_ENST00000549701.1_Missense_Mutation_p.D503V|DNM1L_ENST00000381000.4_Missense_Mutation_p.D516V|DNM1L_ENST00000358214.5_Missense_Mutation_p.D516V|DNM1L_ENST00000266481.6_Missense_Mutation_p.D503V|DNM1L_ENST00000547312.1_Missense_Mutation_p.D503V	p.D503V	NM_012062.3|NM_012063.2	NP_036192.2|NP_036193.2	O00429	DNM1L_HUMAN			13	1672	+	Lung NSC(5;2.15e-06)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)		503			B domain.|Interaction with GSK3B.		A8K4X9|B4DGC9|B4DSU8|J3KPI2|O14541|O60709|Q59GN9|Q7L6B3|Q8TBT7|Q9BWM1|Q9Y5J2	Missense_Mutation	SNP	ENST00000549701.1	37	c.1508A>T	CCDS8729.1	.	.	.	.	.	.	.	.	.	.	A	25.6	4.655832	0.88056	.	.	ENSG00000087470	ENST00000452533;ENST00000411996;ENST00000266479;ENST00000553257;ENST00000549701;ENST00000358214;ENST00000266481;ENST00000547312;ENST00000414834;ENST00000381000	T;T;T;T;T;T;T;T	0.73469	-0.75;-0.75;-0.75;-0.75;-0.75;-0.75;-0.75;-0.75	5.55	5.55	0.83447	Dynamin central domain (1);	0.044847	0.85682	D	0.000000	D	0.84392	0.5462	M	0.66939	2.045	0.80722	D	1	D;P;P;P;P;P	0.71674	0.998;0.872;0.872;0.907;0.872;0.728	D;P;P;P;P;P	0.68483	0.958;0.756;0.756;0.642;0.694;0.58	D	0.86258	0.1653	10	0.87932	D	0	.	15.6899	0.77442	1.0:0.0:0.0:0.0	.	300;556;556;569;556;503	B4DGC9;D3DUW6;D3DUW5;F8W8D1;D3DUW7;O00429	.;.;.;.;.;DNM1L_HUMAN	V	503;569;503;516;503;516;503;503;300;516	ENSP00000415131:D503V;ENSP00000449089:D516V;ENSP00000450399:D503V;ENSP00000350948:D516V;ENSP00000266481:D503V;ENSP00000448610:D503V;ENSP00000404160:D300V;ENSP00000370388:D516V	ENSP00000266479:D503V	D	+	2	0	DNM1L	32777977	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.097000	0.94193	2.110000	0.64415	0.533000	0.62120	GAT		0.308	DNM1L-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000404124.1	NM_012062		13	91	0	0	0	1	0	13	91					T	32886710	A	T	32886710	3	4	240	1	0	0	0	0	1	0	0	0	4671	333	12	5	1558	5	DNM1L	12	32886710	Missense_Mutation	SNP	A	TCGA-HC-A4ZV-01A-11D-A26M-08	11494593	32886710	100965185	87	11249											
RBMS2	5939	broad.mit.edu	37	chr12	56915827	56915827	+	Frame_Shift_Del	DEL	C	C	-																															aatgctgctatccgtgacttCcaggcccgggatttcgactt																										TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr12:56915827delC	ENST00000262031.5	+	1	115	c.20delC	c.(19-21)tccfs	p.S7fs	RBMS2_ENST00000552247.2_Frame_Shift_Del_p.S7fs|RBMS2_ENST00000542360.1_5'UTR|RBMS2_ENST00000550726.1_5'UTR|RBMS2_ENST00000549945.1_3'UTR	NM_002898.3	NP_002889.1	Q15434	RBMS2_HUMAN	RNA binding motif, single stranded interacting protein 2	7					RNA processing (GO:0006396)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(1)|endometrium(1)|large_intestine(2)|lung(8)|prostate(3)|skin(2)|urinary_tract(1)	18						TCCGTGACTTCCAGGCCCGGG	0.478																																						ENST00000262031.5																			0				breast(1)|endometrium(1)|large_intestine(2)|lung(8)|prostate(3)|skin(2)|urinary_tract(1)	18						c.(19-21)tcfs		RNA binding motif, single stranded interacting protein 2							91	93	92					12																	56915827		2203	4300	6503	SO:0001589	frameshift_variant	5939				RNA processing	nucleus	nucleotide binding|RNA binding	g.chr12:56915827delC	D28483	CCDS8923.1	12q13.13	2013-02-12			ENSG00000076067	ENSG00000076067		"RNA binding motif (RRM) containing"	9909	protein-coding gene	gene with protein product		602387				8041632	Standard	NM_002898		Approved	SCR3	uc001sln.2	Q15434	OTTHUMG00000170488	ENST00000262031.5:c.20delC	12.37:g.56915827delC	ENSP00000262031:p.Ser7fs					RBMS2_ENST00000542360.1_5'UTR|RBMS2_ENST00000552247.2_Frame_Shift_Del_p.S7fs|RBMS2_ENST00000550726.1_5'UTR|RBMS2_ENST00000549945.1_3'UTR	p.S7fs	NM_002898.3	NP_002889.1	Q15434	RBMS2_HUMAN			1	115	+			7						Frame_Shift_Del	DEL	ENST00000262031.5	37	c.20delC	CCDS8923.1																																																																																				0.478	RBMS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409366.2	NM_002898		28	56						28	56	---	---	---	---	-	56915827	C	-	56915827	7	5	240	1	0	1	0	1	0	0	0	0	13149	855	30	0	22	0	RBMS2	12	56915827	Frame_Shift_Del	DEL	C	TCGA-HC-A4ZV-01A-11D-A26M-08	24029117	56915827	76936068	88	11250											
UHRF1BP1L	23074	broad.mit.edu	37	chr12	100452198	100452198	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tttttgcagatttgtatcacTagctgatttaaaaagcaaag	14	15	7	5	0	1	2	1	1	0	1	1	2	1	2	0	0	3	4	0	0	6	7			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr12:100452198T>A	ENST00000279907.7	-	14	3069	c.2857A>T	c.(2857-2859)Agt>Tgt	p.S953C	UHRF1BP1L_ENST00000545232.2_Missense_Mutation_p.S603C	NM_015054.1	NP_055869.1	A0JNW5	UH1BL_HUMAN	UHRF1 binding protein 1-like	953										breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(21)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	50						TTTGTATCACTAGCTGATTTA	0.318																																						ENST00000279907.7																			0				breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(21)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	50						c.(2857-2859)Agt>Tgt		UHRF1 binding protein 1-like							52	55	54					12																	100452198		2201	4294	6495	SO:0001583	missense	23074							g.chr12:100452198T>A		CCDS31882.1, CCDS31883.1	12q23.1	2011-04-15	2008-08-15		ENSG00000111647	ENSG00000111647			29102	protein-coding gene	gene with protein product							Standard	XM_005268737		Approved	KIAA0701	uc001tgq.3	A0JNW5	OTTHUMG00000170195	ENST00000279907.7:c.2857A>T	12.37:g.100452198T>A	ENSP00000279907:p.Ser953Cys					UHRF1BP1L_ENST00000545232.2_Missense_Mutation_p.S603C	p.S953C	NM_015054.1	NP_055869.1	A0JNW5	UH1BL_HUMAN			14	3069	-			953					A0PJE5|O75183|Q8NDL1|Q96C30|Q9BTS5|Q9H0F1	Missense_Mutation	SNP	ENST00000279907.7	37	c.2857A>T	CCDS31882.1	.	.	.	.	.	.	.	.	.	.	T	17.22	3.334915	0.60853	.	.	ENSG00000111647	ENST00000279907;ENST00000545232	T;T	0.14022	2.57;2.54	5.87	5.87	0.94306	.	0.251259	0.47852	D	0.000215	T	0.23492	0.0568	N	0.24115	0.695	0.80722	D	1	D	0.76494	0.999	P	0.62813	0.907	T	0.01914	-1.1248	10	0.72032	D	0.01	-17.8309	16.2853	0.82717	0.0:0.0:0.0:1.0	.	953	A0JNW5	UH1BL_HUMAN	C	953;603	ENSP00000279907:S953C;ENSP00000444824:S603C	ENSP00000279907:S953C	S	-	1	0	UHRF1BP1L	98976329	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.505000	0.66981	2.236000	0.73375	0.528000	0.53228	AGT		0.318	UHRF1BP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407875.1	NM_001006947		10	8	0	0	0	1	0	10	8					A	100452198	T	A	100452198	3	1	240	1	0	0	0	0	1	0	0	0	16966	1522	53	5	1569	5	UHRF1BP1L	12	100452198	Missense_Mutation	SNP	T	TCGA-HC-A4ZV-01A-11D-A26M-08	43536371	100452198	33399697	89	11251											
CCDC60	160777	broad.mit.edu	37	chr12	119942914	119942914	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cacaatgcgagtcaccaaccGcaaaccaagccggcgaggct	13	3	10	15	4	1	0	1	0	0	0	1	2	1	0	4	2	4	2	4	2	4	0			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr12:119942914G>A	ENST00000327554.2	+	7	1154	c.689G>A	c.(688-690)cGc>cAc	p.R230H	RP11-768F21.1_ENST00000509470.2_lincRNA	NM_178499.3	NP_848594.2	Q8IWA6	CCD60_HUMAN	coiled-coil domain containing 60	230								p.R230H(2)		endometrium(4)|kidney(3)|large_intestine(8)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.207)		GTCACCAACCGCAAACCAAGC	0.527																																						ENST00000327554.2																			2	Substitution - Missense(2)	p.R230H(2)	large_intestine(2)	endometrium(4)|kidney(3)|large_intestine(8)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						c.(688-690)cGc>cAc		coiled-coil domain containing 60							65	72	70					12																	119942914		2203	4300	6503	SO:0001583	missense	160777							g.chr12:119942914G>A	BC040553	CCDS9190.1	12q24.23	2006-02-03			ENSG00000183273	ENSG00000183273			28610	protein-coding gene	gene with protein product						12477932	Standard	NM_178499		Approved	MGC39827	uc001txe.3	Q8IWA6	OTTHUMG00000168943	ENST00000327554.2:c.689G>A	12.37:g.119942914G>A	ENSP00000333374:p.Arg230His					RP11-768F21.1_ENST00000509470.2_lincRNA	p.R230H	NM_178499.3	NP_848594.2	Q8IWA6	CCD60_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.207)	7	1154	+	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		230						Missense_Mutation	SNP	ENST00000327554.2	37	c.689G>A	CCDS9190.1	.	.	.	.	.	.	.	.	.	.	G	6.667	0.491619	0.12702	.	.	ENSG00000183273	ENST00000327554	T	0.28255	1.62	5.07	2.26	0.28386	.	0.427916	0.19810	N	0.105546	T	0.21962	0.0529	L	0.42245	1.32	0.09310	N	1	B	0.21309	0.054	B	0.14023	0.01	T	0.19549	-1.0302	9	.	.	.	-3.5365	7.2921	0.26372	0.2797:0.0:0.7203:0.0	.	230	Q8IWA6	CCD60_HUMAN	H	230	ENSP00000333374:R230H	.	R	+	2	0	CCDC60	118427297	0.689000	0.27690	0.001000	0.08648	0.008000	0.06430	1.498000	0.35660	0.176000	0.19873	-0.142000	0.14014	CGC		0.527	CCDC60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401680.1	NM_178499		3	53	0	0	0	1	0	3	53					A	119942914	G	A	119942914	3	1	240	1	0	0	0	0	1	0	0	0	2831	1087	38	1	715	1	CCDC60	12	119942914	Missense_Mutation	SNP	G	TCGA-HC-A4ZV-01A-11D-A26M-08	19490716	119942914	13908981	90	11252											
BRCA2	675	broad.mit.edu	37	chr13	32906456	32906456	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttaaagtaaatagctgcaaaGaccacattggaaagtcaatg	18	9	8	6	0	1	1	1	0	0	1	1	2	1	2	1	1	2	3	1	1	8	4	rs80359088		TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr13:32906456G>C	ENST00000380152.3	+	10	1074	c.841G>C	c.(841-843)Gac>Cac	p.D281H	BRCA2_ENST00000544455.1_Missense_Mutation_p.D281H			P51587	BRCA2_HUMAN	breast cancer 2, early onset	281					brain development (GO:0007420)|cell aging (GO:0007569)|centrosome duplication (GO:0051298)|cytokinesis (GO:0000910)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|female gonad development (GO:0008585)|hemopoiesis (GO:0030097)|histone H3 acetylation (GO:0043966)|histone H4 acetylation (GO:0043967)|inner cell mass cell proliferation (GO:0001833)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|male meiosis I (GO:0007141)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|nucleotide-excision repair (GO:0006289)|oocyte maturation (GO:0001556)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cytokinesis (GO:0032465)|replication fork protection (GO:0048478)|response to gamma radiation (GO:0010332)|response to UV-C (GO:0010225)|response to X-ray (GO:0010165)|spermatogenesis (GO:0007283)	BRCA2-MAGE-D1 complex (GO:0033593)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)|secretory granule (GO:0030141)	gamma-tubulin binding (GO:0043015)|H3 histone acetyltransferase activity (GO:0010484)|H4 histone acetyltransferase activity (GO:0010485)|protease binding (GO:0002020)|single-stranded DNA binding (GO:0003697)			NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		TAGCTGCAAAGACCACATTGG	0.289			"D, Mis, N, F, S"		"breast, ovarian, pancreatic"	"breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)																											Esophageal Squamous(138;838 1285 7957 30353 30468 36915 49332)	ENST00000544455.1			yes	Rec	yes	Hereditary breast/ovarian cancer	13	13q12	675	"D, Mis, N, F, S"	familial breast/ovarian cancer gene 2			"L, E"		"breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"	"breast, ovarian, pancreatic"		0				NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183						c.(841-843)Gac>Cac	Homologous recombination	breast cancer 2, early onset							54	56	55					13																	32906456		2202	4294	6496	SO:0001583	missense	675	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	Familial Cancer Database	incl.: Hereditary Pancreatic Adenocarcinoma, Insulin-Dependent Diabetes Mellitus - Exocrine Insufficiency - Familial Pancreatic Cancer, PNCA1;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;HPC; ;FANCD1;Pancytopenia Dysmelia, FA (several complementation groups)	cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding	g.chr13:32906456G>C	U43746	CCDS9344.1	13q12-q13	2014-09-17	2003-10-14		ENSG00000139618	ENSG00000139618		"Fanconi anemia, complementation groups"	1101	protein-coding gene	gene with protein product	"BRCA1/BRCA2-containing complex, subunit 2"	600185	"Fanconi anemia, complementation group D1"	FANCD1, FACD, FANCD		8091231, 7581463, 15057823	Standard	NM_000059		Approved	FAD, FAD1, BRCC2	uc001uub.1	P51587	OTTHUMG00000017411	ENST00000380152.3:c.841G>C	13.37:g.32906456G>C	ENSP00000369497:p.Asp281His	TCGA Ovarian(8;0.087)				BRCA2_ENST00000380152.3_Missense_Mutation_p.D281H	p.D281H	NM_000059.3	NP_000050.2	P51587	BRCA2_HUMAN		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)	10	1068	+		Lung SC(185;0.0262)	281					O00183|O15008|Q13879|Q5TBJ7	Missense_Mutation	SNP	ENST00000380152.3	37	c.841G>C	CCDS9344.1	.	.	.	.	.	.	.	.	.	.	G	13.69	2.313898	0.40996	.	.	ENSG00000139618	ENST00000380152;ENST00000544455;ENST00000530893	T;T	0.01133	5.29;5.29	5.74	4.9	0.64082	.	0.250912	0.34435	N	0.003978	T	0.03827	0.0108	L	0.49778	1.585	0.19300	N	0.999979	D;D	0.89917	1.0;0.999	D;D	0.67231	0.95;0.921	T	0.26360	-1.0105	10	0.87932	D	0	.	8.9045	0.35515	0.1687:0.0:0.8313:0.0	.	281;281	P51587;A1YBP1	BRCA2_HUMAN;.	H	281;281;279	ENSP00000369497:D281H;ENSP00000439902:D281H	ENSP00000369497:D281H	D	+	1	0	BRCA2	31804456	0.935000	0.31712	0.397000	0.26308	0.493000	0.33554	3.306000	0.51881	1.435000	0.47434	0.655000	0.94253	GAC		0.289	BRCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046000.2	NM_000059		12	12	0	0	0	1	0	12	12					C	32906456	G	C	32906456	3	2	240	1	0	0	0	0	1	0	0	0	1499	942	33	5	875	5	BRCA2	13	32906456	Missense_Mutation	SNP	G	TCGA-HC-A4ZV-01A-11D-A26M-08		32906456	82263422	91	11253											
TRPC4	7223	broad.mit.edu	37	chr13	38213401	38213401	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	caaggacaacttacttggtaTtggtgatgtcttctcaagtt	10	15	9	7	0	2	1	1	1	2	0	3	2	2	2	0	3	2	2	0	3	5	6			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr13:38213401T>C	ENST00000379705.3	-	9	2972	c.2115A>G	c.(2113-2115)caA>caG	p.Q705Q	TRPC4_ENST00000379681.3_Silent_p.Q710Q|TRPC4_ENST00000426868.2_3'UTR|TRPC4_ENST00000355779.2_Silent_p.Q705Q|TRPC4_ENST00000379673.2_Silent_p.Q640Q|TRPC4_ENST00000447043.1_Silent_p.Q705Q|TRPC4_ENST00000338947.5_Silent_p.Q532Q|TRPC4_ENST00000358477.2_Silent_p.Q705Q|TRPC4_ENST00000379679.1_Silent_p.Q532Q			Q9UBN4	TRPC4_HUMAN	transient receptor potential cation channel, subfamily C, member 4	705	Binds to ITPR1, ITPR2 and ITPR3.				axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|gamma-aminobutyric acid secretion (GO:0014051)|ion transmembrane transport (GO:0034220)|oligodendrocyte differentiation (GO:0048709)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|calcium channel complex (GO:0034704)|caveola (GO:0005901)|cell surface (GO:0009986)|cortical cytoskeleton (GO:0030863)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|inositol 1,4,5 trisphosphate binding (GO:0070679)|store-operated calcium channel activity (GO:0015279)			NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	83				all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)		TTACTTGGTATTGGTGATGTC	0.338																																						ENST00000379705.3																			0				NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	83						c.(2113-2115)caA>caG		transient receptor potential cation channel, subfamily C, member 4							115	123	120					13																	38213401		2203	4300	6503	SO:0001819	synonymous_variant	7223				axon guidance|calcium ion import	basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton	beta-catenin binding|cadherin binding|store-operated calcium channel activity	g.chr13:38213401T>C	U40983	CCDS9365.1, CCDS45035.1, CCDS45036.1, CCDS45038.1, CCDS45039.1	13q13.3	2013-01-10			ENSG00000133107	ENSG00000133107		"Voltage-gated ion channels / Transient receptor potential cation channels", "Ankyrin repeat domain containing"	12336	protein-coding gene	gene with protein product		603651				8646775, 16382100	Standard	NM_016179		Approved	HTRP4, TRP4	uc010abx.3	Q9UBN4	OTTHUMG00000016752	ENST00000379705.3:c.2115A>G	13.37:g.38213401T>C						TRPC4_ENST00000355779.2_Silent_p.Q705Q|TRPC4_ENST00000358477.2_Silent_p.Q705Q|TRPC4_ENST00000338947.5_Silent_p.Q532Q|TRPC4_ENST00000379679.1_Silent_p.Q532Q|TRPC4_ENST00000447043.1_Silent_p.Q705Q|TRPC4_ENST00000426868.2_3'UTR|TRPC4_ENST00000379681.3_Silent_p.Q710Q|TRPC4_ENST00000379673.2_Silent_p.Q640Q	p.Q705Q			Q9UBN4	TRPC4_HUMAN		all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)	9	2972	-			705			Binds to ITPR1, ITPR2 and ITPR3.		B1ALE0|B1ALE1|B1ALE2|Q15721|Q3SWS6|Q96P03|Q96P04|Q96P05|Q9UIB0|Q9UIB1|Q9UIB2	Silent	SNP	ENST00000379705.3	37	c.2115A>G	CCDS9365.1																																																																																				0.338	TRPC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044574.2	NM_003306		22	52	0	0	0	1	0	22	52					C	38213401	T	C	38213401	2	2	240	1	0	0	0	0	0	0	0	1	16577	1490	52	4		4	TRPC4	13	38213401	Silent	SNP	T	TCGA-HC-A4ZV-01A-11D-A26M-08	5306945	38213401	76956477	92	11254											
RPS6KA5	9252	broad.mit.edu	37	chr14	91338504	91338504	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctgcagtgtcttggtgggtgTagttttaccgtgagaatgag	7	14	15	5	1	1	2	0	2	1	1	1	3	1	2	1	2	2	3	1	2	3	4			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr14:91338504T>A	ENST00000261991.3	-	17	2496	c.2323A>T	c.(2323-2325)Aca>Tca	p.T775S	RPS6KA5_ENST00000536315.2_Missense_Mutation_p.T696S	NM_004755.2	NP_004746.2	O75582	KS6A5_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 5	775					axon guidance (GO:0007411)|epidermal growth factor receptor signaling pathway (GO:0007173)|histone H2A-S1 phosphorylation (GO:0043990)|histone H3-S10 phosphorylation (GO:0043987)|histone H3-S28 phosphorylation (GO:0043988)|histone phosphorylation (GO:0016572)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-1-mediated signaling pathway (GO:0070498)|intracellular signal transduction (GO:0035556)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of cytokine production (GO:0001818)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of histone acetylation (GO:0035066)|positive regulation of histone phosphorylation (GO:0033129)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	24		all_cancers(154;0.0148)|Melanoma(154;0.099)|all_epithelial(191;0.146)		Epithelial(152;0.182)|BRCA - Breast invasive adenocarcinoma(234;0.201)		TTGGTGGGTGTAGTTTTACCG	0.502																																						ENST00000261991.3																			0				endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	24						c.(2323-2325)Aca>Tca		ribosomal protein S6 kinase, 90kDa, polypeptide 5							145	127	133					14																	91338504		2203	4300	6503	SO:0001583	missense	9252				axon guidance|epidermal growth factor receptor signaling pathway|histone phosphorylation|innate immune response|interleukin-1-mediated signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of transcription from RNA polymerase II promoter|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytoplasm|nucleoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity	g.chr14:91338504T>A	AF074393	CCDS9893.1, CCDS45149.1	14q31-q32.1	2011-04-05	2002-08-29			ENSG00000100784			10434	protein-coding gene	gene with protein product		603607	"ribosomal protein S6 kinase, 90kD, polypeptide 5"			9687510, 10702687	Standard	NM_004755		Approved	MSK1, RLPK	uc001xys.2	O75582		ENST00000261991.3:c.2323A>T	14.37:g.91338504T>A	ENSP00000261991:p.Thr775Ser					RPS6KA5_ENST00000536315.2_Missense_Mutation_p.T696S	p.T775S	NM_004755.2	NP_004746.2	O75582	KS6A5_HUMAN		Epithelial(152;0.182)|BRCA - Breast invasive adenocarcinoma(234;0.201)	17	2496	-		all_cancers(154;0.0148)|Melanoma(154;0.099)|all_epithelial(191;0.146)	775					O95316|Q96AF7	Missense_Mutation	SNP	ENST00000261991.3	37	c.2323A>T	CCDS9893.1	.	.	.	.	.	.	.	.	.	.	T	5.461	0.270163	0.10349	.	.	ENSG00000100784	ENST00000261991;ENST00000536315	T;T	0.67345	-0.26;-0.26	5.25	5.25	0.73442	Protein kinase-like domain (1);	0.269773	0.37955	N	0.001863	T	0.45637	0.1352	N	0.12182	0.205	0.80722	D	1	B	0.06786	0.001	B	0.06405	0.002	T	0.38845	-0.9642	10	0.21014	T	0.42	.	10.6723	0.45766	0.1427:0.0:0.0:0.8573	.	775	O75582	KS6A5_HUMAN	S	775;696	ENSP00000261991:T775S;ENSP00000442803:T696S	ENSP00000261991:T775S	T	-	1	0	RPS6KA5	90408257	1.000000	0.71417	0.077000	0.20336	0.038000	0.13279	2.838000	0.48199	2.111000	0.64477	0.533000	0.62120	ACA		0.502	RPS6KA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411442.2	NM_004755		28	31	0	0	0	1	0	28	31					A	91338504	T	A	91338504	3	1	240	1	0	0	0	0	1	0	0	0	13654	1638	57	5	89	5	RPS6KA5	14	91338504	Missense_Mutation	SNP	T	TCGA-HC-A4ZV-01A-11D-A26M-08		91338504	16011036	93	11255											
FBLN5	10516	broad.mit.edu	37	chr14	92403440	92403440	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aggggttcgagtagggccctCgatacacagggtttgtccgg	7	9	16	9	3	0	0	0	0	0	0	3	2	1	0	2	5	1	3	2	5	2	4			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr14:92403440C>T	ENST00000342058.4	-	4	823	c.230G>A	c.(229-231)cGa>cAa	p.R77Q	FBLN5_ENST00000267620.10_Missense_Mutation_p.R118Q|FBLN5_ENST00000556154.1_Missense_Mutation_p.R82Q	NM_006329.3	NP_006320.2	Q9UBX5	FBLN5_HUMAN	fibulin 5	77	EGF-like 1; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				cell-matrix adhesion (GO:0007160)|elastic fiber assembly (GO:0048251)|extracellular matrix organization (GO:0030198)|protein localization to cell surface (GO:0034394)|regulation of cell growth (GO:0001558)|regulation of removal of superoxide radicals (GO:2000121)	elastic fiber (GO:0071953)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|protein C-terminus binding (GO:0008022)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(11)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	28		all_cancers(154;0.0722)				gtagggCCCTCGATACACAGG	0.572																																						ENST00000267620.10																			0				breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(11)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	28						c.(352-354)cGa>cAa		fibulin 5							98	90	93					14																	92403440		2203	4300	6503	SO:0001583	missense	10516				cell-matrix adhesion|elastic fiber assembly|protein localization at cell surface|regulation of removal of superoxide radicals	extracellular space|proteinaceous extracellular matrix|soluble fraction	calcium ion binding|integrin binding|protein C-terminus binding	g.chr14:92403440C>T	AJ133490	CCDS9898.1	14q31	2014-09-17				ENSG00000140092		"Fibulins"	3602	protein-coding gene	gene with protein product		604580				10640802	Standard	NM_006329		Approved	EVEC, UP50, DANCE, ARMD3	uc001xzx.4	Q9UBX5		ENST00000342058.4:c.230G>A	14.37:g.92403440C>T	ENSP00000345008:p.Arg77Gln					FBLN5_ENST00000556154.1_Missense_Mutation_p.R82Q|FBLN5_ENST00000342058.4_Missense_Mutation_p.R77Q	p.R118Q			Q9UBX5	FBLN5_HUMAN			5	522	-		all_cancers(154;0.0722)	77					O75966|Q6IAL4|Q6UWA3	Missense_Mutation	SNP	ENST00000342058.4	37	c.353G>A	CCDS9898.1	.	.	.	.	.	.	.	.	.	.	C	19.23	3.787753	0.70337	.	.	ENSG00000140092	ENST00000267620;ENST00000342058;ENST00000556154;ENST00000554468	D;D;D;D	0.82167	-1.54;-1.58;-1.53;-1.53	5.58	5.58	0.84498	Epidermal growth factor-like, type 3 (1);	0.298946	0.31257	N	0.007963	T	0.80407	0.4617	N	0.08118	0	0.51482	D	0.999923	D;D;D	0.69078	0.993;0.997;0.997	P;D;P	0.66847	0.756;0.947;0.705	T	0.74651	-0.3594	10	0.06494	T	0.89	.	19.5675	0.95401	0.0:1.0:0.0:0.0	.	118;82;77	G3XA98;G3V4U0;Q9UBX5	.;.;FBLN5_HUMAN	Q	118;77;82;77	ENSP00000267620:R118Q;ENSP00000345008:R77Q;ENSP00000451982:R82Q;ENSP00000451486:R77Q	ENSP00000267620:R174Q	R	-	2	0	FBLN5	91473193	0.999000	0.42202	0.942000	0.38095	0.911000	0.54048	5.359000	0.66074	2.640000	0.89533	0.561000	0.74099	CGA		0.572	FBLN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411787.1			13	25	0	0	0	1	0	13	25					T	92403440	C	T	92403440	3	4	240	1	0	0	0	0	1	0	0	0	5700	884	31	2	1148	2	FBLN5	14	92403440	Missense_Mutation	SNP	C	TCGA-HC-A4ZV-01A-11D-A26M-08	1064936	92403440	14946100	94	11256											
CYFIP1	23191	broad.mit.edu	37	chr15	22929865	22929865	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgaagaacatgaagtgcaGtgtgaagaacgaccactcag	15	6	12	8	1	1	5	1	3	0	2	1	6	1	5	1	0	3	2	1	0	5	0			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr15:22929865G>T	ENST00000313077.7	+	6	664	c.539G>T	c.(538-540)aGt>aTt	p.S180I	CYFIP1_ENST00000560848.1_Missense_Mutation_p.S180I	NM_014608.2	NP_055423.1			cytoplasmic FMR1 interacting protein 1											endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(1)|lung(14)|ovary(4)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	40		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;2.22e-06)|Epithelial(43;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00101)		ATGAAGTGCAGTGTGAAGAAC	0.572																																						ENST00000313077.7																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(1)|lung(14)|ovary(4)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	40						c.(538-540)aGt>aTt		cytoplasmic FMR1 interacting protein 1							132	99	111					15																	22929865		2203	4300	6503	SO:0001583	missense	23191				axon extension|lamellipodium assembly|regulation of cell shape|ruffle organization	cell junction|lamellipodium|mRNA cap binding complex|perinuclear region of cytoplasm|ruffle|synapse|synaptosome	actin filament binding|Rac GTPase binding	g.chr15:22929865G>T	D38549	CCDS73695.1, CCDS73696.1	15q11	2008-07-18			ENSG00000068793	ENSG00000273749			13759	protein-coding gene	gene with protein product	"selective hybridizing clone", "cytoplasmic FMRP interacting protein 1"	606322				11438699	Standard	XM_005272543		Approved	KIAA0068, P140SRA-1, SHYC	uc001yus.3	Q7L576	OTTHUMG00000129100	ENST00000313077.7:c.539G>T	15.37:g.22929865G>T	ENSP00000324549:p.Ser180Ile					CYFIP1_ENST00000560848.1_Missense_Mutation_p.S180I	p.S180I	NM_014608.2	NP_055423.1	Q7L576	CYFP1_HUMAN		all cancers(64;2.22e-06)|Epithelial(43;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00101)	6	664	+		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)	180						Missense_Mutation	SNP	ENST00000313077.7	37	c.539G>T	CCDS10009.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.387092	0.82902	.	.	ENSG00000068793	ENST00000313077;ENST00000412127	T	0.47869	0.83	4.92	4.92	0.64577	.	0.000000	0.85682	D	0.000000	T	0.72542	0.3473	M	0.84433	2.695	0.80722	D	1	D;B	0.67145	0.996;0.25	D;B	0.71656	0.974;0.273	T	0.78326	-0.2247	10	0.87932	D	0	-10.9763	18.4773	0.90798	0.0:0.0:1.0:0.0	.	208;180	E7EQ04;Q7L576	.;CYFP1_HUMAN	I	180;208	ENSP00000324549:S180I	ENSP00000324549:S180I	S	+	2	0	CYFIP1	20481306	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	9.658000	0.98594	2.439000	0.82584	0.561000	0.74099	AGT		0.572	CYFIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251136.2	NM_014608		16	39	1	0	0.00498961	1	0.00521495	16	39					T	22929865	G	T	22929865	3	4	240	1	0	0	0	0	1	0	0	0	4137	1029	36	5	557	5	CYFIP1	15	22929865	Missense_Mutation	SNP	G	TCGA-HC-A4ZV-01A-11D-A26M-08		22929865	79601527	95	11257											
ZNF770	54989	broad.mit.edu	37	chr15	35275428	35275428	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agttagttgatgcctctccaGatgaactagttgtctaaagg	11	13	10	7	0	2	3	0	2	2	1	3	3	2	3	2	1	2	3	2	1	5	5			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr15:35275428G>C	ENST00000356321.4	-	3	552	c.208C>G	c.(208-210)Ctg>Gtg	p.L70V		NM_014106.3	NP_054825.2	Q6IQ21	ZN770_HUMAN	zinc finger protein 770	70					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)	29		Lung NSC(122;4.59e-10)|all_lung(180;8.78e-09)		all cancers(64;1.97e-18)|GBM - Glioblastoma multiforme(113;2.11e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0643)		TGCCTCTCCAGATGAACTAGT	0.363																																						ENST00000356321.4																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)	29						c.(208-210)Ctg>Gtg		zinc finger protein 770							81	79	80					15																	35275428		2201	4298	6499	SO:0001583	missense	54989				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr15:35275428G>C	BC071603	CCDS10042.1	15q14	2013-01-08			ENSG00000198146	ENSG00000198146		"Zinc fingers, C2H2-type"	26061	protein-coding gene	gene with protein product							Standard	NM_014106		Approved	FLJ20582, PRO1914	uc001ziw.3	Q6IQ21	OTTHUMG00000129689	ENST00000356321.4:c.208C>G	15.37:g.35275428G>C	ENSP00000348673:p.Leu70Val						p.L70V	NM_014106.3	NP_054825.2	Q6IQ21	ZN770_HUMAN		all cancers(64;1.97e-18)|GBM - Glioblastoma multiforme(113;2.11e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0643)	3	552	-		Lung NSC(122;4.59e-10)|all_lung(180;8.78e-09)	70					Q6ZMZ6|Q9NWV2	Missense_Mutation	SNP	ENST00000356321.4	37	c.208C>G	CCDS10042.1	.	.	.	.	.	.	.	.	.	.	G	13.54	2.268429	0.40095	.	.	ENSG00000198146	ENST00000356321	T	0.25749	1.78	5.0	4.1	0.47936	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.52532	D	0.000070	T	0.50205	0.1602	M	0.83012	2.62	0.32712	N	0.511483	D	0.71674	0.998	D	0.80764	0.994	T	0.65034	-0.6266	10	0.72032	D	0.01	-2.9131	9.2297	0.37430	0.1621:0.0:0.8379:0.0	.	70	Q6IQ21	ZN770_HUMAN	V	70	ENSP00000348673:L70V	ENSP00000348673:L70V	L	-	1	2	ZNF770	33062720	0.971000	0.33674	0.998000	0.56505	0.987000	0.75469	0.940000	0.28992	1.346000	0.45694	-0.126000	0.14955	CTG		0.363	ZNF770-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251896.2	NM_014106		6	21	0	0	0	1	0	6	21					C	35275428	G	C	35275428	3	2	240	1	0	0	0	0	1	0	0	0	18140	933	33	5	1871	5	ZNF770	15	35275428	Missense_Mutation	SNP	G	TCGA-HC-A4ZV-01A-11D-A26M-08	12345563	35275428	67255964	96	11258											
UACA	55075	broad.mit.edu	37	chr15	70959286	70959286	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttctattcagattggccaatTtttcatttaagctagaaatc	12	17	5	7	0	3	2	2	0	1	2	4	2	3	2	1	1	1	1	1	1	5	9			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr15:70959286T>A	ENST00000322954.6	-	16	3922	c.3737A>T	c.(3736-3738)aAa>aTa	p.K1246I	UACA_ENST00000539319.1_Missense_Mutation_p.K1137I|UACA_ENST00000379983.2_Missense_Mutation_p.K1233I|UACA_ENST00000560441.1_Missense_Mutation_p.K1231I	NM_018003.2	NP_060473.2	Q9BZF9	UACA_HUMAN	uveal autoantigen with coiled-coil domains and ankyrin repeats	1246					intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|negative regulation of inflammatory response (GO:0050728)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of protein import into nucleus (GO:0042307)|response to UV (GO:0009411)	apoptosome (GO:0043293)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)				breast(2)|endometrium(7)|kidney(4)|large_intestine(13)|lung(17)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	50						ATTGGCCAATTTTTCATTTAA	0.328																																						ENST00000322954.6																			0				breast(2)|endometrium(7)|kidney(4)|large_intestine(13)|lung(17)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	50						c.(3736-3738)aAa>aTa		uveal autoantigen with coiled-coil domains and ankyrin repeats							123	124	124					15																	70959286		2199	4297	6496	SO:0001583	missense	55075					cytoskeleton|extracellular region		g.chr15:70959286T>A	AF322916	CCDS10235.1, CCDS32280.1	15q22-q24	2013-01-10			ENSG00000137831	ENSG00000137831		"Ankyrin repeat domain containing"	15947	protein-coding gene	gene with protein product		612516				11162650, 10997877	Standard	NM_001008224		Approved	FLJ10128, KIAA1561	uc002asr.3	Q9BZF9	OTTHUMG00000133363	ENST00000322954.6:c.3737A>T	15.37:g.70959286T>A	ENSP00000314556:p.Lys1246Ile					UACA_ENST00000539319.1_Missense_Mutation_p.K1137I|UACA_ENST00000560441.1_Missense_Mutation_p.K1231I|UACA_ENST00000379983.2_Missense_Mutation_p.K1233I	p.K1246I	NM_018003.2	NP_060473.2	Q9BZF9	UACA_HUMAN			16	3922	-			1246					G3XAG2|Q14DD3|Q8N3B8|Q96NH6|Q9HCL1|Q9NWC6	Missense_Mutation	SNP	ENST00000322954.6	37	c.3737A>T	CCDS10235.1	.	.	.	.	.	.	.	.	.	.	T	14.93	2.682204	0.47991	.	.	ENSG00000137831	ENST00000322954;ENST00000379983;ENST00000539319	T;T;T	0.39056	1.1;1.11;1.59	5.65	3.37	0.38596	.	0.359565	0.26377	N	0.024722	T	0.48241	0.1489	M	0.66939	2.045	0.25519	N	0.987383	P;P;P;P	0.50710	0.896;0.833;0.898;0.938	B;B;B;P	0.50896	0.43;0.248;0.248;0.653	T	0.40346	-0.9568	10	0.52906	T	0.07	-22.2654	8.7596	0.34667	0.0:0.2132:0.0:0.7868	.	1137;1246;1246;1233	F5H2B9;B7ZKM6;Q9BZF9;G3XAG2	.;.;UACA_HUMAN;.	I	1246;1233;1137	ENSP00000314556:K1246I;ENSP00000369319:K1233I;ENSP00000438667:K1137I	ENSP00000314556:K1246I	K	-	2	0	UACA	68746340	0.117000	0.22190	0.701000	0.30321	0.964000	0.63967	1.590000	0.36654	0.443000	0.26582	0.533000	0.62120	AAA		0.328	UACA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257199.2			23	36	0	0	0	1	0	23	36					A	70959286	T	A	70959286	3	1	240	1	0	0	0	0	1	0	0	0	16821	1841	64	5	529	5	UACA	15	70959286	Missense_Mutation	SNP	T	TCGA-HC-A4ZV-01A-11D-A26M-08	35683858	70959286	31572106	97	11259											
C16orf11	146325	broad.mit.edu	37	chr16	614264	614264	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ccagggacccagggcaggagGgggagctggagcgggcagcc	8	1	21	11	1	0	0	0	0	0	0	0	4	0	4	3	7	3	3	3	7	0	0			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr16:614264G>T	ENST00000409413.3	+	2	1249	c.970G>T	c.(970-972)Ggg>Tgg	p.G324W	NHLRC4_ENST00000540585.1_5'Flank|NHLRC4_ENST00000424439.2_5'Flank|PIGQ_ENST00000409527.2_5'Flank	NM_145270.2	NP_660313.1	P0CG20	PRR35_HUMAN		324	Pro-rich.									central_nervous_system(1)|endometrium(1)|lung(5)|ovary(1)|skin(1)|urinary_tract(1)	10						AGGGCAGGAGGGGGAGCTGGA	0.701																																						ENST00000409413.3																			0				central_nervous_system(1)|endometrium(1)|lung(5)|ovary(1)|skin(1)|urinary_tract(1)	10						c.(970-972)Ggg>Tgg		chromosome 16 open reading frame 11							6	7	7					16																	614264		1852	4051	5903	SO:0001583	missense	146325							g.chr16:614264G>T																												ENST00000409413.3:c.970G>T	16.37:g.614264G>T	ENSP00000386499:p.Gly324Trp						p.G324W	NM_145270.2	NP_660313.1	P0CG20	CP011_HUMAN			2	1249	+			324			Pro-rich.		B8ZZ27|Q8N233|Q96AX3|Q96S23	Missense_Mutation	SNP	ENST00000409413.3	37	c.970G>T	CCDS45365.1	.	.	.	.	.	.	.	.	.	.	G	3.876	-0.026922	0.07589	.	.	ENSG00000161992	ENST00000409413	T	0.09255	3.0	4.37	2.39	0.29439	.	0.594910	0.14732	N	0.301691	T	0.14614	0.0353	L	0.27053	0.805	0.09310	N	1	D	0.67145	0.996	P	0.61874	0.895	T	0.10405	-1.0631	10	0.72032	D	0.01	.	4.92	0.13865	0.0808:0.2661:0.5167:0.1365	.	324	P0CG20	CP011_HUMAN	W	324	ENSP00000386499:G324W	ENSP00000386499:G324W	G	+	1	0	C16orf11	554265	0.000000	0.05858	0.031000	0.17742	0.152000	0.21847	-0.304000	0.08199	0.473000	0.27368	0.561000	0.74099	GGG		0.701	C16orf11-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000333913.1			6	0	1	0	2.0095e-06	1	2.19959e-06	6	0					T	614264	G	T	614264	3	4	240	1	0	0	0	0	1	0	0	0	1810	1232	43	5	972	5	C16orf11	16	614264	Missense_Mutation	SNP	G	TCGA-HC-A4ZV-01A-11D-A26M-08		614264	89740489	98	11260											
GRIN2A	2903	broad.mit.edu	37	chr16	9934873	9934873	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cagatagaggtcgtaagtaaActtcacagttctggaaagct	14	10	10	7	1	2	2	1	0	1	2	3	3	2	3	0	2	2	4	0	2	5	5			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr16:9934873A>T	ENST00000396573.2	-	7	1726	c.1417T>A	c.(1417-1419)Ttt>Att	p.F473I	GRIN2A_ENST00000535259.1_Missense_Mutation_p.F316I|GRIN2A_ENST00000396575.2_Missense_Mutation_p.F473I|GRIN2A_ENST00000330684.3_Missense_Mutation_p.F473I|GRIN2A_ENST00000562109.1_Missense_Mutation_p.F473I|GRIN2A_ENST00000404927.2_Missense_Mutation_p.F473I	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	473					directional locomotion (GO:0033058)|dopamine metabolic process (GO:0042417)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning or memory (GO:0007611)|memory (GO:0007613)|negative regulation of protein catabolic process (GO:0042177)|neurogenesis (GO:0022008)|positive regulation of apoptotic process (GO:0043065)|protein localization (GO:0008104)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic plasticity (GO:0048167)|response to amphetamine (GO:0001975)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to wounding (GO:0009611)|sensory perception of pain (GO:0019233)|serotonin metabolic process (GO:0042428)|sleep (GO:0030431)|startle response (GO:0001964)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)|visual learning (GO:0008542)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Glycine(DB00145)|Halothane(DB01159)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	TCGTAAGTAAACTTCACAGTT	0.403																																						ENST00000396573.2																			0				NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198						c.(1417-1419)Ttt>Att		glutamate receptor, ionotropic, N-methyl D-aspartate 2A	Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)						164	141	149					16																	9934873		2197	4300	6497	SO:0001583	missense	0				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	g.chr16:9934873A>T		CCDS10539.1, CCDS45407.1	16p13.2	2012-08-29			ENSG00000183454	ENSG00000183454		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4585	protein-coding gene	gene with protein product		138253		NMDAR2A		9480759	Standard	XM_005255267		Approved	GluN2A	uc002czo.4	Q12879	OTTHUMG00000129721	ENST00000396573.2:c.1417T>A	16.37:g.9934873A>T	ENSP00000379818:p.Phe473Ile					GRIN2A_ENST00000330684.3_Missense_Mutation_p.F473I|GRIN2A_ENST00000404927.2_Missense_Mutation_p.F473I|GRIN2A_ENST00000535259.1_Missense_Mutation_p.F316I|GRIN2A_ENST00000562109.1_Missense_Mutation_p.F473I|GRIN2A_ENST00000396575.2_Missense_Mutation_p.F473I	p.F473I	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN			7	1726	-			473					O00669|Q17RZ6	Missense_Mutation	SNP	ENST00000396573.2	37	c.1417T>A	CCDS10539.1	.	.	.	.	.	.	.	.	.	.	A	32	5.191898	0.94923	.	.	ENSG00000183454	ENST00000396573;ENST00000404927;ENST00000535259;ENST00000330684;ENST00000396575	T;T;T;T;T	0.26373	1.74;1.74;1.74;1.74;1.74	5.31	5.31	0.75309	Extracellular solute-binding protein, family 3 (1);Glutamate receptor, L-glutamate/glycine-binding (1);Ionotropic glutamate receptor (1);	0.000000	0.85682	D	0.000000	T	0.49915	0.1585	M	0.72624	2.21	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;0.997	T	0.49447	-0.8939	9	.	.	.	.	14.4772	0.67554	1.0:0.0:0.0:0.0	.	316;473;473	F5GZ52;Q17RZ6;Q12879	.;.;NMDE1_HUMAN	I	473;473;316;473;473	ENSP00000379818:F473I;ENSP00000385872:F473I;ENSP00000441572:F316I;ENSP00000332549:F473I;ENSP00000379820:F473I	.	F	-	1	0	GRIN2A	9842374	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.118000	0.94355	2.009000	0.58944	0.459000	0.35465	TTT		0.403	GRIN2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251930.3			31	70	0	0	0	1	0	31	70					T	9934873	A	T	9934873	3	4	240	1	0	0	0	0	1	0	0	0	6779	43	2	5	3009	5	GRIN2A	16	9934873	Missense_Mutation	SNP	A	TCGA-HC-A4ZV-01A-11D-A26M-08	9320609	9934873	80419880	99	11261											
SRCAP	10847	broad.mit.edu	37	chr16	30749840	30749840	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caccccagcagcccttcattGctcgccgtcacattgagctg	7	9	8	17	2	2	1	2	1	0	0	3	1	2	1	4	0	4	3	4	0	0	3			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr16:30749840G>A	ENST00000262518.4	+	34	8864	c.8479G>A	c.(8479-8481)Gct>Act	p.A2827T	SRCAP_ENST00000395059.2_Missense_Mutation_p.A2765T|SRCAP_ENST00000344771.4_Missense_Mutation_p.A2669T|RP11-2C24.4_ENST00000483578.1_lincRNA	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	2827	Pro-rich.				histone acetylation (GO:0016573)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			GCCCTTCATTGCTCGCCGTCA	0.632																																						ENST00000262518.4																			0				NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136						c.(8479-8481)Gct>Act		Snf2-related CREBBP activator protein							49	52	51					16																	30749840		2197	4300	6497	SO:0001583	missense	10847				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity	g.chr16:30749840G>A	AB002307	CCDS10689.2	16p11.2	2009-08-06			ENSG00000080603	ENSG00000080603			16974	protein-coding gene	gene with protein product	"Swi2/Snf2-related ATPase homolog (S. cerevisiae)", "domino homolog 1 (Drosophila)"	611421				10347196, 9205841	Standard	NM_006662		Approved	KIAA0309, EAF1, SWR1, DOMO1	uc002dze.1	Q6ZRS2	OTTHUMG00000132393	ENST00000262518.4:c.8479G>A	16.37:g.30749840G>A	ENSP00000262518:p.Ala2827Thr					SRCAP_ENST00000344771.4_Missense_Mutation_p.A2669T|SRCAP_ENST00000395059.2_Missense_Mutation_p.A2765T	p.A2827T	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Colorectal(24;0.198)		34	8864	+			2827			Pro-rich.		B0JZA6|O15026|Q7Z744|Q9Y5L9	Missense_Mutation	SNP	ENST00000262518.4	37	c.8479G>A	CCDS10689.2	.	.	.	.	.	.	.	.	.	.	G	5.839	0.339099	0.11069	.	.	ENSG00000080603	ENST00000262518;ENST00000395059;ENST00000344771	D;D;D	0.93133	-3.14;-3.17;-3.16	5.21	5.21	0.72293	.	0.000000	0.50627	D	0.000101	D	0.92328	0.7566	N	0.08118	0	0.29249	N	0.872111	D;D	0.67145	0.996;0.993	D;D	0.79784	0.993;0.984	D	0.88876	0.3336	10	0.72032	D	0.01	-11.0385	15.7808	0.78257	0.0:0.0:1.0:0.0	.	2765;2827	Q6ZRS2-2;Q6ZRS2	.;SRCAP_HUMAN	T	2827;2765;2669	ENSP00000262518:A2827T;ENSP00000378499:A2765T;ENSP00000343042:A2669T	ENSP00000262518:A2827T	A	+	1	0	SRCAP	30657341	1.000000	0.71417	1.000000	0.80357	0.062000	0.15995	4.593000	0.61034	2.711000	0.92665	0.591000	0.81541	GCT		0.632	SRCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255523.1	NM_006662		22	22	0	0	0	1	0	22	22					A	30749840	G	A	30749840	3	1	240	1	0	0	0	0	1	0	0	0	15134	1319	46	3	8605	3	SRCAP	16	30749840	Missense_Mutation	SNP	G	TCGA-HC-A4ZV-01A-11D-A26M-08	20814967	30749840	59604913	100	11262											
SSH2	85464	broad.mit.edu	37	chr17	27999097	27999097	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ataggctgcctgggtagtagTtatgcgctctggcgacttca	7	12	13	9	2	2	0	1	0	1	0	2	1	2	0	1	3	2	5	1	3	4	5			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr17:27999097T>G	ENST00000269033.3	-	8	735	c.584A>C	c.(583-585)aAc>aCc	p.N195T	SSH2_ENST00000540801.1_Missense_Mutation_p.N222T|SSH2_ENST00000324677.7_5'Flank|RP11-68I3.2_ENST00000581474.1_RNA	NM_001282129.1|NM_033389.2	NP_001269058.1|NP_203747.2	Q76I76	SSH2_HUMAN	slingshot protein phosphatase 2	195					actin cytoskeleton organization (GO:0030036)|protein dephosphorylation (GO:0006470)|regulation of actin polymerization or depolymerization (GO:0008064)|regulation of axonogenesis (GO:0050770)|regulation of lamellipodium assembly (GO:0010591)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular space (GO:0005615)	actin binding (GO:0003779)|DNA binding (GO:0003677)|phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)		SSH2/SUZ12(2)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TGGGTAGTAGTTATGCGCTCT	0.463																																						ENST00000269033.3																		SSH2/SUZ12(2)	0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						c.(583-585)aAc>aCc		slingshot protein phosphatase 2							166	146	153					17																	27999097		2203	4300	6503	SO:0001583	missense	85464				actin cytoskeleton organization|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly	cytoplasm|cytoskeleton	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr17:27999097T>G	AB072359	CCDS11253.1, CCDS74024.1	17q11.2	2013-03-05	2013-03-05		ENSG00000141298	ENSG00000141298		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Slingshots"	30580	protein-coding gene	gene with protein product		606779	"slingshot homolog 2 (Drosophila)"			11832213, 11214970	Standard	XM_005258059		Approved	KIAA1725	uc002heo.1	Q76I76	OTTHUMG00000132752	ENST00000269033.3:c.584A>C	17.37:g.27999097T>G	ENSP00000269033:p.Asn195Thr					RP11-68I3.2_ENST00000581474.1_RNA|SSH2_ENST00000540801.1_Missense_Mutation_p.N222T	p.N195T	NM_033389.2	NP_203747.2	Q76I76	SSH2_HUMAN			8	735	-			195					Q8TDB5|Q8WYL1|Q8WYL2|Q96F40|Q96H36|Q9C0D8	Missense_Mutation	SNP	ENST00000269033.3	37	c.584A>C	CCDS11253.1	.	.	.	.	.	.	.	.	.	.	T	32	5.107431	0.94292	.	.	ENSG00000141298	ENST00000269033;ENST00000540801;ENST00000394848	T;T	0.36520	1.25;1.25	5.67	5.67	0.87782	.	0.046163	0.85682	D	0.000000	T	0.61476	0.2350	M	0.78456	2.415	0.80722	D	1	D;D;D	0.62365	0.989;0.991;0.981	D;D;P	0.68483	0.958;0.931;0.833	T	0.66448	-0.5921	10	0.87932	D	0	-19.2526	15.8991	0.79359	0.0:0.0:0.0:1.0	.	222;195;195	F5H527;Q76I76-4;Q76I76	.;.;SSH2_HUMAN	T	195;222;195	ENSP00000269033:N195T;ENSP00000444743:N222T	ENSP00000269033:N195T	N	-	2	0	SSH2	25023223	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	8.023000	0.88764	2.151000	0.67156	0.421000	0.28195	AAC		0.463	SSH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256116.1	NM_033389		18	27	0	0	0	1	0	18	27					G	27999097	T	G	27999097	3	3	240	1	0	0	0	0	1	0	0	0	15184	1725	60	5	3719	5	SSH2	17	27999097	Missense_Mutation	SNP	T	TCGA-HC-A4ZV-01A-11D-A26M-08		27999097	53196113	101	11263											
RAB11FIP4	84440	broad.mit.edu	37	chr17	29761110	29761110	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agcgcggggacgctgccgtgCgcgccagagatcccagactg	7	4	16	14	6	0	2	0	0	0	2	1	4	1	3	3	2	3	1	3	2	0	0	rs201291649	byFrequency	TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr17:29761110C>T	ENST00000325874.8	+	3	535	c.306C>T	c.(304-306)tgC>tgT	p.C102C		NM_032932.3	NP_116321.2	Q86YS3	RFIP4_HUMAN	RAB11 family interacting protein 4 (class II)	102	Necessary for interaction with RAB11A, subcellular location, homo- or heterooligomerization.				cytokinesis (GO:0000910)|transport (GO:0006810)|viral process (GO:0016032)	cleavage furrow (GO:0032154)|endocytic vesicle (GO:0030139)|endosome (GO:0005768)|extracellular space (GO:0005615)|midbody (GO:0030496)|recycling endosome membrane (GO:0055038)	ADP-ribosylation factor binding (GO:0030306)|calcium ion binding (GO:0005509)|protein homodimerization activity (GO:0042803)|Rab GTPase binding (GO:0017137)	p.?(1)		endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_cancers(10;3.62e-13)|all_epithelial(10;0.000387)|all_lung(9;0.0132)|Breast(31;0.014)|all_hematologic(16;0.015)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0259)|Ovarian(249;0.0423)|Lung NSC(157;0.066)				CGCTGCCGTGCGCGCCAGAGA	0.642													C|||	2	0.000399361	0	0.0029	5008	,	,		18730	0		0	False		,,,				2504	0					ENST00000325874.8																			1	Unknown(1)	p.?(1)	autonomic_ganglia(1)	endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(304-306)tgC>tgT		RAB11 family interacting protein 4 (class II)							58	49	52					17																	29761110		2198	4299	6497	SO:0001819	synonymous_variant	84440				cytokinesis|interspecies interaction between organisms|protein transport	cleavage furrow|endocytic vesicle|midbody|recycling endosome membrane	ADP-ribosylation factor binding|calcium ion binding|protein homodimerization activity|Rab GTPase binding	g.chr17:29761110C>T	AB058724	CCDS11267.1	17q11.2	2013-01-10			ENSG00000131242	ENSG00000131242		"EF-hand domain containing"	30267	protein-coding gene	gene with protein product		611999				11347906, 11468690	Standard	NM_032932		Approved	RAB11-FIP4, KIAA1821, MGC11316, FLJ00131	uc002hgn.1	Q86YS3	OTTHUMG00000132787	ENST00000325874.8:c.306C>T	17.37:g.29761110C>T							p.C102C	NM_032932.3	NP_116321.2	Q86YS3	RFIP4_HUMAN			3	535	+		all_cancers(10;3.62e-13)|all_epithelial(10;0.000387)|all_lung(9;0.0132)|Breast(31;0.014)|all_hematologic(16;0.015)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0259)|Ovarian(249;0.0423)|Lung NSC(157;0.066)	102			Necessary for interaction with RAB11A, subcellular location, homo- or heterooligomerization.		Q52LI1|Q8N829|Q8NDT7|Q969D8	Silent	SNP	ENST00000325874.8	37	c.306C>T	CCDS11267.1																																																																																				0.642	RAB11FIP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256195.2	NM_032932		3	11	0	0	0	1	0	3	11					T	29761110	C	T	29761110	2	4	240	1	0	0	0	0	0	0	0	1	12896	776	27	1		1	RAB11FIP4	17	29761110	Silent	SNP	C	TCGA-HC-A4ZV-01A-11D-A26M-08	1762013	29761110	51434100	102	11264											
GAS2L2	246176	broad.mit.edu	37	chr17	34074193	34074193	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctctgtgagcggctgatggtCattgtaggctgggtctgtga	5	13	16	7	1	3	3	1	3	2	0	3	3	3	3	0	4	1	3	0	4	1	2			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr17:34074193C>T	ENST00000254466.6	-	5	954	c.927G>A	c.(925-927)atG>atA	p.M309I	GAS2L2_ENST00000587565.1_Missense_Mutation_p.M293I	NM_139285.3	NP_644814.1	Q8NHY3	GA2L2_HUMAN	growth arrest-specific 2 like 2	309					cell cycle arrest (GO:0007050)|microtubule bundle formation (GO:0001578)|negative regulation of microtubule depolymerization (GO:0007026)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	actin filament binding (GO:0051015)|cytoskeletal adaptor activity (GO:0008093)|microtubule binding (GO:0008017)			central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		GGCTGATGGTCATTGTAGGCT	0.612																																						ENST00000254466.6																			0				central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						c.(925-927)atG>atA		growth arrest-specific 2 like 2							121	128	126					17																	34074193		2203	4300	6503	SO:0001583	missense	246176				cell cycle arrest	cytoplasm|cytoskeleton		g.chr17:34074193C>T	AF508784	CCDS11298.1	17q21	2014-05-06			ENSG00000132139	ENSG00000270765			24846	protein-coding gene	gene with protein product		611398				12584248	Standard	NM_139285		Approved	GAR17	uc002hjv.2	Q8NHY3	OTTHUMG00000188386	ENST00000254466.6:c.927G>A	17.37:g.34074193C>T	ENSP00000254466:p.Met309Ile					GAS2L2_ENST00000587565.1_Missense_Mutation_p.M293I	p.M309I	NM_139285.3	NP_644814.1	Q8NHY3	GA2L2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)	5	954	-		Ovarian(249;0.17)	309					Q8NHY4	Missense_Mutation	SNP	ENST00000254466.6	37	c.927G>A	CCDS11298.1	.	.	.	.	.	.	.	.	.	.	C	14.63	2.594229	0.46214	.	.	ENSG00000132139	ENST00000254466	T	0.17213	2.29	5.1	5.1	0.69264	.	0.214556	0.39615	N	0.001303	T	0.19886	0.0478	L	0.56769	1.78	0.37889	D	0.930637	P	0.38827	0.649	B	0.36186	0.219	T	0.06320	-1.0833	10	0.48119	T	0.1	-30.1782	15.3692	0.74548	0.0:1.0:0.0:0.0	.	309	Q8NHY3	GA2L2_HUMAN	I	309	ENSP00000254466:M309I	ENSP00000254466:M309I	M	-	3	0	GAS2L2	31098306	1.000000	0.71417	0.995000	0.50966	0.509000	0.34042	1.464000	0.35288	2.644000	0.89710	0.561000	0.74099	ATG		0.612	GAS2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256497.1	NM_139285		52	98	0	0	0	1	0	52	98					T	34074193	C	T	34074193	3	4	240	1	0	0	0	0	1	0	0	0	6247	826	29	3	1723	3	GAS2L2	17	34074193	Missense_Mutation	SNP	C	TCGA-HC-A4ZV-01A-11D-A26M-08	4313083	34074193	47121017	103	11265											
GRB7	2886	broad.mit.edu	37	chr17	37903005	37903005	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccctttactgtaccccagaGcgaggaggagggccgcctgt	7	7	13	14	2	0	1	0	0	0	1	0	4	0	3	6	3	3	1	6	3	2	3			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr17:37903005G>A	ENST00000309156.4	+	15	1711	c.1454G>A	c.(1453-1455)aGc>aAc	p.S485N	GRB7_ENST00000394211.3_Splice_Site_p.S485N|GRB7_ENST00000394209.2_Splice_Site_p.S485N|GRB7_ENST00000445327.2_Splice_Site_p.S508N|GRB7_ENST00000309185.3_3'UTR|GRB7_ENST00000394204.1_3'UTR	NM_005310.3	NP_005301.2	Q14451	GRB7_HUMAN	growth factor receptor-bound protein 7	485	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|leukocyte migration (GO:0050900)|negative regulation of translation (GO:0017148)|positive regulation of cell migration (GO:0030335)|positive regulation of signal transduction (GO:0009967)|stress granule assembly (GO:0034063)	cell projection (GO:0042995)|cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)|phosphatidylinositol binding (GO:0035091)|protein kinase binding (GO:0019901)|RNA binding (GO:0003723)|SH3/SH2 adaptor activity (GO:0005070)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;6.86e-60)|all cancers(3;1.65e-53)|BRCA - Breast invasive adenocarcinoma(8;2.03e-43)|STAD - Stomach adenocarcinoma(3;1.43e-12)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			GTACCCCAGAGCGAGGAGGAG	0.607																																						ENST00000309156.4																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						c.e15-1		growth factor receptor-bound protein 7							74	69	71					17																	37903005		2203	4300	6503	SO:0001630	splice_region_variant	2886				blood coagulation|epidermal growth factor receptor signaling pathway|leukocyte migration|negative regulation of translation|positive regulation of cell migration|stress granule assembly	cytosol|focal adhesion|stress granule	phosphatidylinositol binding|protein kinase binding|SH3/SH2 adaptor activity	g.chr17:37903005G>A	D43772	CCDS11345.1, CCDS56028.1	17q12	2013-02-14			ENSG00000141738	ENSG00000141738		"Pleckstrin homology (PH) domain containing", "SH2 domain containing"	4567	protein-coding gene	gene with protein product		601522					Standard	NM_005310		Approved		uc021twu.1	Q14451	OTTHUMG00000133253	ENST00000309156.4:c.1453-1G>A	17.37:g.37903005G>A						GRB7_ENST00000309185.3_3'UTR|GRB7_ENST00000394211.3_Splice_Site_p.S485_splice|GRB7_ENST00000394204.1_3'UTR|GRB7_ENST00000394209.2_Splice_Site_p.S485_splice|GRB7_ENST00000445327.2_Splice_Site_p.S508_splice	p.S485_splice	NM_005310.3	NP_005301.2	Q14451	GRB7_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;6.86e-60)|all cancers(3;1.65e-53)|BRCA - Breast invasive adenocarcinoma(8;2.03e-43)|STAD - Stomach adenocarcinoma(3;1.43e-12)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)		15	1711	+	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		485			SH2.		B2RAV1|B3KNL0|B3KWP9|B7WP75|J3KQM4|Q53YD3|Q92568|Q96DF9|Q9Y220	Splice_Site	SNP	ENST00000309156.4	37	c.1452_splice	CCDS11345.1	.	.	.	.	.	.	.	.	.	.	G	12.58	1.981095	0.34942	.	.	ENSG00000141738	ENST00000309156;ENST00000394211;ENST00000394209;ENST00000445327	D;D;D;D	0.88586	-2.4;-2.4;-2.4;-2.4	4.8	4.8	0.61643	SH2 motif (5);	0.200688	0.52532	D	0.000074	T	0.80380	0.4612	N	0.05592	-0.015	0.80722	D	1	B	0.22983	0.078	B	0.36567	0.228	T	0.74565	-0.3623	10	0.20519	T	0.43	-24.3615	12.4483	0.55664	0.0:0.0:0.8316:0.1684	.	485	Q14451	GRB7_HUMAN	N	485;485;485;508	ENSP00000310771:S485N;ENSP00000377761:S485N;ENSP00000377759:S485N;ENSP00000403459:S508N	ENSP00000310771:S485N	S	+	2	0	GRB7	35156531	0.375000	0.25089	1.000000	0.80357	0.944000	0.59088	0.607000	0.24209	2.494000	0.84150	0.591000	0.81541	AGC		0.607	GRB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257024.2	NM_005310	Missense_Mutation	5	102	0	0	0	1	0	5	102					A	37903005	G	A	37903005	5	1	240	1	0	0	0	0	0	0	1	0	6759	985	34	3	1508	3	GRB7	17	37903005	Splice_Site	SNP	G	TCGA-HC-A4ZV-01A-11D-A26M-08	3828812	37903005	43292205	104	11266											
KIAA1267	284058	broad.mit.edu	37	chr17	44128012	44128012	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgttgatgctgcctgaaccaCacagtgcgcaggagggattc	9	9	13	10	1	0	2	0	2	0	0	1	4	0	4	2	2	4	3	2	2	1	2			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr17:44128012C>T	ENST00000262419.6	-	7	2377	c.1907G>A	c.(1906-1908)tGt>tAt	p.C636Y	KANSL1_ENST00000572904.1_Missense_Mutation_p.C636Y|KANSL1_ENST00000575318.1_Missense_Mutation_p.C636Y|KANSL1_ENST00000432791.1_Missense_Mutation_p.C636Y|KANSL1_ENST00000393476.3_De_novo_Start_OutOfFrame|KANSL1_ENST00000574590.1_Missense_Mutation_p.C636Y	NM_001193466.1	NP_001180395	Q7Z3B3	KANL1_HUMAN	KAT8 regulatory NSL complex subunit 1	636					chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)	histone acetyltransferase complex (GO:0000123)|MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)											GCCTGAACCACACAGTGCGCA	0.493																																						ENST00000393476.3																			0													KAT8 regulatory NSL complex subunit 1							101	77	85					17																	44128012		2203	4300	6503	SO:0001583	missense	284058					MLL1 complex	protein binding	g.chr17:44128012C>T	BX538006	CCDS11503.1, CCDS11503.2, CCDS74084.1	17q21.31	2012-02-20	2012-02-20	2012-02-20	ENSG00000120071	ENSG00000120071			24565	protein-coding gene	gene with protein product	"centromere protein 36"	612452	"KIAA1267"	KIAA1267		10574462	Standard	NM_015443		Approved	DKFZP727C091, MSL1v1, CENP-36, NSL1	uc002ikd.3	Q7Z3B3		ENST00000262419.6:c.1907G>A	17.37:g.44128012C>T	ENSP00000262419:p.Cys636Tyr					KANSL1_ENST00000572904.1_Missense_Mutation_p.C636Y|KANSL1_ENST00000574590.1_Missense_Mutation_p.C636Y|KANSL1_ENST00000262419.6_Missense_Mutation_p.C636Y|KANSL1_ENST00000432791.1_Missense_Mutation_p.C636Y|KANSL1_ENST00000575318.1_Missense_Mutation_p.C636Y				Q7Z3B3	K1267_HUMAN			0	2377	-								A8K5E4|Q6AW85|Q8IYH1|Q9BRH0|Q9NTE7|Q9UFT0|Q9ULF3	Translation_Start_Site	SNP	ENST00000262419.6	37		CCDS11503.1	.	.	.	.	.	.	.	.	.	.	C	16.10	3.028032	0.54790	.	.	ENSG00000120071	ENST00000262419;ENST00000432791	T;T	0.20598	2.06;2.06	6.06	6.06	0.98353	.	0.000000	0.85682	D	0.000000	T	0.47432	0.1445	M	0.71206	2.165	0.80722	D	1	D;D	0.76494	0.997;0.999	D;D	0.87578	0.991;0.998	T	0.35992	-0.9766	10	0.72032	D	0.01	-7.6633	16.1399	0.81515	0.0:1.0:0.0:0.0	.	636;636	C9JHY2;Q7Z3B3	.;K1267_HUMAN	Y	636	ENSP00000262419:C636Y;ENSP00000387393:C636Y	ENSP00000262419:C636Y	C	-	2	0	KIAA1267	41483864	1.000000	0.71417	1.000000	0.80357	0.098000	0.18820	4.738000	0.62073	2.880000	0.98712	0.650000	0.86243	TGT		0.493	KANSL1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440274.1	NM_015443		4	19	0	0	0	1	0	4	19					T	44128012	C	T	44128012	3	4	240	1	0	0	0	0	1	0	0	0	8219	478	17	3	1446	3	KIAA1267	17	44128012	Missense_Mutation	SNP	C	TCGA-HC-A4ZV-01A-11D-A26M-08	6225007	44128012	37067198	105	11267											
EPN3	55040	broad.mit.edu	37	chr17	48614289	48614289	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaccagggcgtcaacgtgcgCgagaaggtcaagcaggtgat	11	5	16	9	4	2	2	2	1	0	1	2	4	2	2	1	3	3	1	1	3	3	0	rs139261708	byFrequency	TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr17:48614289C>T	ENST00000268933.3	+	2	951	c.372C>T	c.(370-372)cgC>cgT	p.R124R	RP11-94C24.8_ENST00000513017.1_RNA|EPN3_ENST00000537145.1_Silent_p.R179R|EPN3_ENST00000541226.1_Silent_p.R68R	NM_017957.2	NP_060427.2	Q9H201	EPN3_HUMAN	epsin 3	124	ENTH. {ECO:0000255|PROSITE- ProRule:PRU00243}.					clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|extracellular vesicular exosome (GO:0070062)|extrinsic component of plasma membrane (GO:0019897)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	lipid binding (GO:0008289)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	14	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;2.88e-09)			TCAACGTGCGCGAGAAGGTCA	0.637													C|||	13	0.00259585	0.0091	0	5008	,	,		19745	0.001		0	False		,,,				2504	0					ENST00000268933.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	14						c.(370-372)cgC>cgT		epsin 3		C		43,4363	46.7+/-81.2	1,41,2161	86	62	70		372	-6.2	0.9	17	dbSNP_134	70	0,8600		0,0,4300	no	coding-synonymous	EPN3	NM_017957.2		1,41,6461	TT,TC,CC		0.0,0.9759,0.3306		124/633	48614289	43,12963	2203	4300	6503	SO:0001819	synonymous_variant	55040					clathrin-coated vesicle|nucleus|perinuclear region of cytoplasm	lipid binding	g.chr17:48614289C>T	AF324241	CCDS11570.1	17q21.33	2008-07-18				ENSG00000049283			18235	protein-coding gene	gene with protein product		607264				10951261, 11359770	Standard	NM_017957		Approved	FLJ20778, MGC129899	uc002ira.4	Q9H201		ENST00000268933.3:c.372C>T	17.37:g.48614289C>T						EPN3_ENST00000541226.1_Silent_p.R68R|EPN3_ENST00000537145.1_Silent_p.R179R	p.R124R	NM_017957.2	NP_060427.2	Q9H201	EPN3_HUMAN	BRCA - Breast invasive adenocarcinoma(22;2.88e-09)		2	951	+	Breast(11;1.23e-18)		124			ENTH.		A8K6J3|A8KAB2|Q9BVN6|Q9NWK2	Silent	SNP	ENST00000268933.3	37	c.372C>T	CCDS11570.1																																																																																				0.637	EPN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367573.1	NM_017957		22	32	0	0	0	1	0	22	32					T	48614289	C	T	48614289	2	4	240	1	0	0	0	0	0	0	0	1	5187	755	27	1		1	EPN3	17	48614289	Silent	SNP	C	TCGA-HC-A4ZV-01A-11D-A26M-08	4486277	48614289	32580921	106	11268											
ABCC3	8714	broad.mit.edu	37	chr17	48741195	48741195	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggggtgaagtttcgtactggGatcatgggtgtcatctacag	8	12	15	6	1	3	1	2	1	1	0	4	2	3	2	0	4	2	2	0	4	3	3			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr17:48741195G>T	ENST00000285238.8	+	9	1232	c.1152G>T	c.(1150-1152)ggG>ggT	p.G384G	ABCC3_ENST00000427699.1_Silent_p.G384G	NM_003786.3	NP_003777.2	O15438	MRP3_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 3	384	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33			BRCA - Breast invasive adenocarcinoma(22;3.05e-09)		Cisplatin(DB00515)|Clotrimazole(DB00257)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Doxorubicin(DB00997)|Etoposide(DB00773)|Ezetimibe(DB00973)|Fluorouracil(DB00544)|Folic Acid(DB00158)|Gadoxetate(DB08884)|Glutathione(DB00143)|Glyburide(DB01016)|Indomethacin(DB00328)|Lamivudine(DB00709)|Leucovorin(DB00650)|Methotrexate(DB00563)|Metyrapone(DB01011)|Nifedipine(DB01115)|Omeprazole(DB00338)|Phenobarbital(DB01174)|Probenecid(DB01032)|Rifampicin(DB01045)|Sulfinpyrazone(DB01138)|Verapamil(DB00661)|Vincristine(DB00541)	TTCGTACTGGGATCATGGGTG	0.557																																						ENST00000285238.8																			0				breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33						c.(1150-1152)ggG>ggT		ATP-binding cassette, sub-family C (CFTR/MRP), member 3	Glibenclamide(DB01016)						110	91	97					17																	48741195		2203	4300	6503	SO:0001819	synonymous_variant	8714				bile acid metabolic process	integral to plasma membrane|membrane fraction	ATP binding|bile acid-exporting ATPase activity|organic anion transmembrane transporter activity	g.chr17:48741195G>T	Y17151	CCDS32681.1, CCDS45739.1	17q21	2012-03-14			ENSG00000108846	ENSG00000108846		"ATP binding cassette transporters / subfamily C"	54	protein-coding gene	gene with protein product	"canalicular multispecific organic anion transporter 2"	604323				8894702, 9827529	Standard	NM_003786		Approved	MRP3, cMOAT2, EST90757, MLP2, MOAT-D	uc002isl.3	O15438	OTTHUMG00000162245	ENST00000285238.8:c.1152G>T	17.37:g.48741195G>T						ABCC3_ENST00000427699.1_Silent_p.G384G	p.G384G	NM_003786.3	NP_003777.2	O15438	MRP3_HUMAN	BRCA - Breast invasive adenocarcinoma(22;3.05e-09)		9	1232	+			384			ABC transmembrane type-1 1.		B2RPA9|D3DTX9|O60265|O60922|O75621|O95078|O95289|O95290|Q86X85|Q9UN52	Silent	SNP	ENST00000285238.8	37	c.1152G>T	CCDS32681.1																																																																																				0.557	ABCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368083.2	NM_020038		18	33	1	0	2.35188e-11	1	2.7609e-11	18	33					T	48741195	G	T	48741195	2	4	240	1	0	0	0	0	0	0	0	1	54	1161	41	5		5	ABCC3	17	48741195	Silent	SNP	G	TCGA-HC-A4ZV-01A-11D-A26M-08	126906	48741195	32454015	107	11269											
APPBP2	10513	broad.mit.edu	37	chr17	58525052	58525052	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcatctgtcactgaatattGccgatctcgcaaccggttcc	9	11	8	13	3	3	1	1	1	2	0	5	2	4	1	3	1	3	3	3	1	3	3			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr17:58525052G>A	ENST00000083182.3	-	13	1935	c.1648C>T	c.(1648-1650)Caa>Taa	p.Q550*		NM_001282476.1|NM_006380.2	NP_001269405.1|NP_006371.2	Q92624	APBP2_HUMAN	amyloid beta precursor protein (cytoplasmic tail) binding protein 2	550					intracellular protein transport (GO:0006886)|intracellular transport (GO:0046907)|metabolic process (GO:0008152)	cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|nucleus (GO:0005634)	microtubule motor activity (GO:0003777)			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(17)|pancreas(1)|urinary_tract(1)	25	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;3.67e-13)|all cancers(12;1.44e-11)|Colorectal(3;0.01)			ACTGAATATTGCCGATCTCGC	0.448																																						ENST00000083182.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(17)|pancreas(1)|urinary_tract(1)	25						c.(1648-1650)Caa>Taa		amyloid beta precursor protein (cytoplasmic tail) binding protein 2							196	193	194					17																	58525052		2203	4300	6503	SO:0001587	stop_gained	10513				intracellular protein transport	cytoplasmic vesicle membrane|microtubule|microtubule associated complex|nucleus	microtubule motor activity|protein binding	g.chr17:58525052G>A	AF017782	CCDS32699.1	17q23.2	2012-09-20	2001-11-28		ENSG00000062725	ENSG00000062725			622	protein-coding gene	gene with protein product	"protein interacting with APP tail 1"	605324	"amyloid beta precursor protein (cytoplasmic tail)-binding protein 2"			9843960	Standard	NM_006380		Approved	KIAA0228, Hs.84084, PAT1	uc002iys.1	Q92624		ENST00000083182.3:c.1648C>T	17.37:g.58525052G>A	ENSP00000083182:p.Gln550*						p.Q550*	NM_006380.2	NP_006371.2	Q92624	APBP2_HUMAN	Epithelial(12;3.67e-13)|all cancers(12;1.44e-11)|Colorectal(3;0.01)		13	1935	-	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		550					A8K862|O95095|Q8WVC9	Nonsense_Mutation	SNP	ENST00000083182.3	37	c.1648C>T	CCDS32699.1	.	.	.	.	.	.	.	.	.	.	G	38	7.208310	0.98136	.	.	ENSG00000062725	ENST00000083182	.	.	.	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.09084	T	0.74	-8.9269	20.0203	0.97492	0.0:0.0:1.0:0.0	.	.	.	.	X	550	.	ENSP00000083182:Q550X	Q	-	1	0	APPBP2	55879834	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.434000	0.97515	2.730000	0.93505	0.655000	0.94253	CAA		0.448	APPBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449465.1	NM_006380		42	85	0	0	0	1	0	42	85					A	58525052	G	A	58525052	4	1	240	1	0	0	0	0	0	1	0	0	816	1328	46	3	113	3	APPBP2	17	58525052	Nonsense_Mutation	SNP	G	TCGA-HC-A4ZV-01A-11D-A26M-08	9783857	58525052	22670158	108	11270											
PSMC5	5705	broad.mit.edu	37	chr17	61908885	61908885	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggcccggctggacattttgaAgattcattctcggaagatga	10	11	12	8	2	2	4	1	2	1	2	3	6	2	6	1	4	0	1	1	4	2	4			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr17:61908885A>T	ENST00000310144.6	+	10	1297	c.989A>T	c.(988-990)aAg>aTg	p.K330M	PSMC5_ENST00000580864.1_Missense_Mutation_p.K322M|FTSJ3_ENST00000580295.1_5'Flank|PSMC5_ENST00000581882.1_Missense_Mutation_p.K322M|PSMC5_ENST00000375812.4_Missense_Mutation_p.K322M	NM_002805.5	NP_002796.4	P62195	PRS8_HUMAN	proteasome (prosome, macropain) 26S subunit, ATPase, 5	330	May mediate interaction with PRPF9. {ECO:0000250|UniProtKB:P62196}.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of programmed cell death (GO:0043069)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of inclusion body assembly (GO:0090261)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|cytosolic proteasome complex (GO:0031597)|extracellular vesicular exosome (GO:0070062)|inclusion body (GO:0016234)|membrane (GO:0016020)|nuclear proteasome complex (GO:0031595)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)|proteasome regulatory particle (GO:0005838)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|thyrotropin-releasing hormone receptor binding (GO:0031531)|transcription cofactor activity (GO:0003712)|transcription factor binding (GO:0008134)			endometrium(3)|kidney(2)|large_intestine(8)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	20						GACATTTTGAAGATTCATTCT	0.542																																						ENST00000310144.6																			0				endometrium(3)|kidney(2)|large_intestine(8)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	20						c.(988-990)aAg>aTg		proteasome (prosome, macropain) 26S subunit, ATPase, 5							53	57	55					17																	61908885		2201	4299	6500	SO:0001583	missense	5705				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of programmed cell death|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of transcription, DNA-dependent|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|transcription from RNA polymerase II promoter|viral reproduction	cytoplasm|nucleus|proteasome complex	ATP binding|ATPase activity|thyrotropin-releasing hormone receptor binding|transcription cofactor activity|transcription factor binding	g.chr17:61908885A>T	L38810	CCDS11645.1, CCDS56043.1	17q23.3	2010-04-21			ENSG00000087191	ENSG00000087191		"Proteasome (prosome, macropain) subunits", "ATPases / AAA-type"	9552	protein-coding gene	gene with protein product		601681				9473509, 9048938	Standard	NM_002805		Approved	SUG1, p45/SUG, TBP10, p45, S8, TRIP1, SUG-1	uc002jcb.3	P62195		ENST00000310144.6:c.989A>T	17.37:g.61908885A>T	ENSP00000310572:p.Lys330Met					PSMC5_ENST00000375812.4_Missense_Mutation_p.K322M|PSMC5_ENST00000581882.1_Missense_Mutation_p.K322M|PSMC5_ENST00000580864.1_Missense_Mutation_p.K322M	p.K330M	NM_002805.5	NP_002796.4	P62195	PRS8_HUMAN			10	1297	+			330					A8K3Z3|A8K763|O35051|O43208|P47210|P52915|P52916	Missense_Mutation	SNP	ENST00000310144.6	37	c.989A>T	CCDS11645.1	.	.	.	.	.	.	.	.	.	.	A	20.4	3.987261	0.74589	.	.	ENSG00000087191	ENST00000310144;ENST00000375812	T;T	0.79845	-1.31;-1.31	6.03	6.03	0.97812	.	0.000000	0.85682	D	0.000000	D	0.86209	0.5878	M	0.82923	2.615	0.80722	D	1	P;P	0.47484	0.703;0.896	P;P	0.49477	0.485;0.612	D	0.88294	0.2945	10	0.87932	D	0	.	14.5102	0.67780	1.0:0.0:0.0:0.0	.	322;330	A8K3Z3;P62195	.;PRS8_HUMAN	M	330;322	ENSP00000310572:K330M;ENSP00000364970:K322M	ENSP00000310572:K330M	K	+	2	0	PSMC5	59262617	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.491000	0.81471	2.308000	0.77769	0.533000	0.62120	AAG		0.542	PSMC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444404.1	NM_002805		30	65	0	0	0	1	0	30	65					T	61908885	A	T	61908885	3	4	240	1	0	0	0	0	1	0	0	0	12690	72	3	5	1027	5	PSMC5	17	61908885	Missense_Mutation	SNP	A	TCGA-HC-A4ZV-01A-11D-A26M-08	3383833	61908885	19286325	109	11271											
BPTF	2186	broad.mit.edu	37	chr17	65940437	65940437	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tctttaccccattggcaacaAcagccaccacagccagcacc	12	6	5	18	0	1	0	0	0	1	0	1	0	1	0	6	1	6	2	6	1	3	3			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr17:65940437A>G	ENST00000321892.4	+	22	7088	c.7027A>G	c.(7027-7029)Aca>Gca	p.T2343A	BPTF_ENST00000424123.3_Missense_Mutation_p.T2204A|BPTF_ENST00000577770.1_3'UTR|BPTF_ENST00000335221.5_Missense_Mutation_p.T2343A|BPTF_ENST00000306378.6_Missense_Mutation_p.T2217A			Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	2343	Thr-rich.				anterior/posterior pattern specification (GO:0009952)|ATP catabolic process (GO:0006200)|brain development (GO:0007420)|chromatin remodeling (GO:0006338)|embryonic placenta development (GO:0001892)|endoderm development (GO:0007492)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)|NURF complex (GO:0016589)	sequence-specific DNA binding (GO:0043565)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			ATTGGCAACAACAGCCACCAC	0.537																																						ENST00000321892.4																			0				NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						c.(7027-7029)Aca>Gca		bromodomain PHD finger transcription factor							89	75	80					17																	65940437		2203	4300	6503	SO:0001583	missense	2186				brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NURF complex	sequence-specific DNA binding|transcription factor binding|zinc ion binding	g.chr17:65940437A>G	AY282495	CCDS11673.1	17q24	2013-01-28	2006-12-01	2006-12-01	ENSG00000171634	ENSG00000171634		"Zinc fingers, PHD-type"	3581	protein-coding gene	gene with protein product		601819	"fetal Alzheimer antigen"	FALZ		8975731, 10662542, 16728976	Standard	NM_182641		Approved	FAC1, NURF301	uc002jgf.3	Q12830	OTTHUMG00000132254	ENST00000321892.4:c.7027A>G	17.37:g.65940437A>G	ENSP00000315454:p.Thr2343Ala					BPTF_ENST00000577770.1_3'UTR|BPTF_ENST00000306378.6_Missense_Mutation_p.T2217A|BPTF_ENST00000424123.3_Missense_Mutation_p.T2204A|BPTF_ENST00000335221.5_Missense_Mutation_p.T2343A	p.T2343A			Q12830	BPTF_HUMAN	BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)		22	7088	+	all_cancers(12;6e-11)		2343			Thr-rich.		Q6NX67|Q7Z7D6|Q9UIG2	Missense_Mutation	SNP	ENST00000321892.4	37	c.7027A>G		.	.	.	.	.	.	.	.	.	.	A	6.945	0.544113	0.13312	.	.	ENSG00000171634	ENST00000306378;ENST00000335221;ENST00000321892	T;T;T	0.60040	0.22;0.28;0.26	5.7	-0.267	0.12938	.	.	.	.	.	T	0.22244	0.0536	N	0.03948	-0.315	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.06405	0.001;0.002;0.002	T	0.23868	-1.0176	9	0.02654	T	1	-6.7968	1.7031	0.02876	0.2794:0.1662:0.3926:0.1617	.	21;2217;2343	B4DJV8;Q12830-2;Q12830-4	.;.;.	A	2217;2343;2343	ENSP00000307208:T2217A;ENSP00000334351:T2343A;ENSP00000315454:T2343A	ENSP00000307208:T2217A	T	+	1	0	BPTF	63370899	0.222000	0.23652	0.644000	0.29465	0.467000	0.32768	0.664000	0.25068	-0.112000	0.11979	-0.250000	0.11733	ACA		0.537	BPTF-201	KNOWN	basic	protein_coding	protein_coding		NM_182641, NM_004459		31	40	0	0	0	1	0	31	40					G	65940437	A	G	65940437	3	3	240	1	0	0	0	0	1	0	0	0	1495	43	2	4	7113	4	BPTF	17	65940437	Missense_Mutation	SNP	A	TCGA-HC-A4ZV-01A-11D-A26M-08	4031552	65940437	15254773	110	11272											
EMILIN2	84034	broad.mit.edu	37	chr18	2892339	2892339	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	aagcatgtcagcagcctgtgGaactgtgtcaggcagatgaa	12	8	13	8	0	2	2	2	1	0	1	2	3	2	3	1	2	4	3	1	2	3	0			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr18:2892339G>C	ENST00000254528.3	+	4	2373	c.2214G>C	c.(2212-2214)tgG>tgC	p.W738C		NM_032048.2	NP_114437.2	Q9BXX0	EMIL2_HUMAN	elastin microfibril interfacer 2	738					cell adhesion (GO:0007155)	collagen trimer (GO:0005581)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix constituent conferring elasticity (GO:0030023)			breast(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(4)	48				READ - Rectum adenocarcinoma(2;0.1)		GCAGCCTGTGGAACTGTGTCA	0.507																																						ENST00000254528.3																			0				breast(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(4)	48						c.(2212-2214)tgG>tgC		elastin microfibril interfacer 2							62	59	60					18																	2892339		2203	4300	6503	SO:0001583	missense	84034				cell adhesion	collagen	extracellular matrix constituent conferring elasticity|protein binding	g.chr18:2892339G>C	AF270513	CCDS11828.1	18p11.3	2008-02-05			ENSG00000132205	ENSG00000132205		"EMI domain containing"	19881	protein-coding gene	gene with protein product		608928					Standard	NM_032048		Approved	FLJ33200, FOAP-10	uc002kln.3	Q9BXX0	OTTHUMG00000128525	ENST00000254528.3:c.2214G>C	18.37:g.2892339G>C	ENSP00000254528:p.Trp738Cys						p.W738C	NM_032048.2	NP_114437.2	Q9BXX0	EMIL2_HUMAN		READ - Rectum adenocarcinoma(2;0.1)	4	2373	+			738					B2RMY3|Q8NBH3|Q96JQ4	Missense_Mutation	SNP	ENST00000254528.3	37	c.2214G>C	CCDS11828.1	.	.	.	.	.	.	.	.	.	.	G	14.80	2.644128	0.47258	.	.	ENSG00000132205	ENST00000254528	T	0.32988	1.43	5.48	5.48	0.80851	.	0.168676	0.43416	D	0.000565	T	0.58352	0.2116	M	0.76574	2.34	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.57602	-0.7783	10	0.46703	T	0.11	-20.9418	19.3424	0.94349	0.0:0.0:1.0:0.0	.	738	Q9BXX0	EMIL2_HUMAN	C	738	ENSP00000254528:W738C	ENSP00000254528:W738C	W	+	3	0	EMILIN2	2882339	1.000000	0.71417	0.977000	0.42913	0.070000	0.16714	9.199000	0.95003	2.563000	0.86464	0.563000	0.77884	TGG		0.507	EMILIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250337.2	NM_032048		11	13	0	0	0	1	0	11	13					C	2892339	G	C	2892339	3	2	240	1	0	0	0	0	1	0	0	0	5094	1183	41	5	2228	5	EMILIN2	18	2892339	Missense_Mutation	SNP	G	TCGA-HC-A4ZV-01A-11D-A26M-08		2892339	75184909	111	11273											
CEP76	79959	broad.mit.edu	37	chr18	12699203	12699203	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccgtgttggatcaatattagCtgtaaagtgtagcaatatat	13	14	9	5	1	1	0	1	0	0	0	1	1	1	1	1	1	2	5	1	1	9	7			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr18:12699203C>A	ENST00000262127.2	-	4	521		c.e4-1		CEP76_ENST00000586887.1_Intron|PSMG2_ENST00000585331.2_Intron|CEP76_ENST00000423709.2_Intron	NM_024899.2	NP_079175.2	Q8TAP6	CEP76_HUMAN	centrosomal protein 76kDa						G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of centriole replication (GO:0046599)	centriole (GO:0005814)|centrosome (GO:0005813)|cytosol (GO:0005829)|protein complex (GO:0043234)				endometrium(1)|kidney(3)|large_intestine(5)|lung(7)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						TCAATATTAGCTGTAAAGTGT	0.363																																						ENST00000262127.2																			0				endometrium(1)|kidney(3)|large_intestine(5)|lung(7)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.e4-1		centrosomal protein 76kDa							64	65	65					18																	12699203		2203	4300	6503	SO:0001630	splice_region_variant	79959				G2/M transition of mitotic cell cycle|regulation of centriole replication	centriole|cytosol	protein binding	g.chr18:12699203C>A	BC026307	CCDS11861.1, CCDS62390.1	18p11.21	2014-02-20	2005-12-01	2005-12-01	ENSG00000101624	ENSG00000101624			25727	protein-coding gene	gene with protein product			"chromosome 18 open reading frame 9"	C18orf9		14654843	Standard	NM_024899		Approved	HsT1705, FLJ12542	uc002kri.4	Q8TAP6	OTTHUMG00000131701	ENST00000262127.2:c.296-1G>T	18.37:g.12699203C>A						CEP76_ENST00000586887.1_Intron|CEP76_ENST00000423709.2_Intron|RP11-973H7.2_ENST00000585331.1_RNA		NM_024899.2	NP_079175.2	Q8TAP6	CEP76_HUMAN			4	521	-								B0YJB2|B4DXG5|B4DZW1|Q658N5|Q9H9U7	Splice_Site	SNP	ENST00000262127.2	37		CCDS11861.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.064257	0.76187	.	.	ENSG00000101624	ENST00000262127	.	.	.	5.83	5.83	0.93111	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.1338	0.98010	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CEP76	12689203	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.074000	0.71253	2.770000	0.95276	0.655000	0.94253	.		0.363	CEP76-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254611.1	NM_024899	Intron	16	18	1	0	1.45105e-14	1	1.75426e-14	16	18					A	12699203	C	A	12699203	5	1	240	1	0	0	0	0	0	0	1	0	3261	811	28	5	1720	5	CEP76	18	12699203	Splice_Site	SNP	C	TCGA-HC-A4ZV-01A-11D-A26M-08	9806864	12699203	65378045	112	11274											
ADAMTS10	81794	broad.mit.edu	37	chr19	8670020	8670020	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctcccgtgtccagtactcCacggagacgtgccctgccag	6	7	10	18	3	0	1	0	0	0	1	3	2	3	1	6	1	3	1	6	1	1	1			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr19:8670020C>A	ENST00000597188.1	-	4	582	c.312G>T	c.(310-312)gtG>gtT	p.V104V	ADAMTS10_ENST00000270328.4_Silent_p.V104V|ADAMTS10_ENST00000596709.1_5'UTR	NM_030957.2	NP_112219.3	Q9H324	ATS10_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 10	104						extracellular matrix (GO:0031012)|microfibril (GO:0001527)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(16)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(3)|skin(10)|urinary_tract(1)	53						TCCAGTACTCCACGGAGACGT	0.687																																						ENST00000270328.4																			0				NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(16)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(3)|skin(10)|urinary_tract(1)	53						c.(310-312)gtG>gtT		ADAM metallopeptidase with thrombospondin type 1 motif, 10							26	26	26					19																	8670020		2202	4296	6498	SO:0001819	synonymous_variant	81794				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr19:8670020C>A	AF163762	CCDS12206.1, CCDS62529.1	19p13.2	2014-08-12	2005-08-19		ENSG00000142303	ENSG00000142303		"ADAM metallopeptidases with thrombospondin type 1 motif"	13201	protein-coding gene	gene with protein product		608990	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 10"				Standard	XM_005272499		Approved	ADAM-TS10	uc002mkj.1	Q9H324	OTTHUMG00000182216	ENST00000597188.1:c.312G>T	19.37:g.8670020C>A						ADAMTS10_ENST00000597188.1_Silent_p.V104V|ADAMTS10_ENST00000596709.1_5'UTR	p.V104V			Q9H324	ATS10_HUMAN			3	578	-			104					M0QZE4	Silent	SNP	ENST00000597188.1	37	c.312G>T	CCDS12206.1																																																																																				0.687	ADAMTS10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460085.3	NM_030957		5	27	1	0	0.00116845	1	0.00123718	5	27					A	8670020	C	A	8670020	2	1	240	1	0	0	0	0	0	0	0	1	256	581	21	5		5	ADAMTS10	19	8670020	Silent	SNP	C	TCGA-HC-A4ZV-01A-11D-A26M-08		8670020	50458963	113	11275											
EMR2	30817	broad.mit.edu	37	chr19	14887554	14887554	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttaccgagaaagacgagaaaGacgcggcctcccatggttcc	12	6	11	12	4	0	4	0	0	0	4	2	6	2	4	4	2	1	1	4	2	3	2			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr19:14887554G>C	ENST00000315576.3	-	2	466	c.15C>G	c.(13-15)gtC>gtG	p.V5V	EMR2_ENST00000392965.3_Silent_p.V5V|EMR2_ENST00000594076.1_Silent_p.V5V|EMR2_ENST00000353876.1_Silent_p.V5V|EMR2_ENST00000596991.2_Silent_p.V5V|EMR2_ENST00000601345.1_Silent_p.V5V|EMR2_ENST00000599423.1_5'UTR|EMR2_ENST00000595839.1_Silent_p.V5V|EMR2_ENST00000392967.2_Silent_p.V5V|EMR2_ENST00000594294.1_Silent_p.V5V|EMR2_ENST00000353005.1_Silent_p.V5V|EMR2_ENST00000346057.1_Silent_p.V5V	NM_013447.3	NP_038475.2	Q9UHX3	EMR2_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 2	5					cell adhesion (GO:0007155)|cell migration (GO:0016477)|G-protein coupled receptor signaling pathway (GO:0007186)|granulocyte chemotaxis (GO:0071621)|inflammatory response (GO:0006954)|neuropeptide signaling pathway (GO:0007218)	cell projection (GO:0042995)|integral component of membrane (GO:0016021)|leading edge membrane (GO:0031256)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|chondroitin sulfate binding (GO:0035374)|G-protein coupled receptor activity (GO:0004930)			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	48						AGACGAGAAAGACGCGGCCTC	0.652																																						ENST00000315576.3																			0				breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	48						c.(13-15)gtC>gtG		egf-like module containing, mucin-like, hormone receptor-like 2							34	30	32					19																	14887554		2203	4300	6503	SO:0001819	synonymous_variant	30817				cell adhesion|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr19:14887554G>C	AF114491	CCDS32935.1, CCDS59361.1	19p13.1	2014-08-08	2003-11-26			ENSG00000127507		"CD molecules", "-", "GPCR / Class B : Orphans"	3337	protein-coding gene	gene with protein product		606100	"egf-like module containing, mucin-like, hormone receptor-like sequence 2"				Standard	NM_013447		Approved	CD312	uc002mzp.2	Q9UHX3		ENST00000315576.3:c.15C>G	19.37:g.14887554G>C						EMR2_ENST00000594076.1_Silent_p.V5V|EMR2_ENST00000596991.2_Silent_p.V5V|EMR2_ENST00000594294.1_Silent_p.V5V|EMR2_ENST00000353005.1_Silent_p.V5V|EMR2_ENST00000601345.1_Silent_p.V5V|EMR2_ENST00000599423.1_5'UTR|EMR2_ENST00000595839.1_Silent_p.V5V|EMR2_ENST00000346057.1_Silent_p.V5V|EMR2_ENST00000392965.3_Silent_p.V5V|EMR2_ENST00000392967.2_Silent_p.V5V|EMR2_ENST00000353876.1_Silent_p.V5V	p.V5V	NM_013447.2	NP_038475.2	Q9UHX3	EMR2_HUMAN			2	466	-			5					B4DQ96|E7ESD7|E9PBR1|E9PEL6|E9PFQ5|E9PG91|Q8NG96|Q9Y4B1	Silent	SNP	ENST00000315576.3	37	c.15C>G	CCDS32935.1																																																																																				0.652	EMR2-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000466502.2			4	13	0	0	0	1	0	4	13					C	14887554	G	C	14887554	2	2	240	1	0	0	0	0	0	0	0	1	5105	929	33	5		5	EMR2	19	14887554	Silent	SNP	G	TCGA-HC-A4ZV-01A-11D-A26M-08	6217534	14887554	44241429	114	11276											
CHERP	84167	broad.mit.edu	37	chr19	16630018	16630018	+	Intron	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cgggcgatgaaggagtagctCttgttcctgcggtagttctc	6	12	14	9	3	2	1	0	1	2	0	4	3	3	2	1	3	2	5	1	3	3	5			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr19:16630018C>G	ENST00000221671.3	+	9	2170				CHERP_ENST00000544299.1_5'UTR|CTD-3222D19.2_ENST00000409035.1_3'UTR|CHERP_ENST00000198939.6_Missense_Mutation_p.K912N|CHERP_ENST00000546361.2_Missense_Mutation_p.K901N	NM_032207.2	NP_115583.1	Q9H6X5	CS044_HUMAN	chromosome 19 open reading frame 44											endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|stomach(1)|urinary_tract(2)	16						AGGAGTAGCTCTTGTTCCTGC	0.642																																						ENST00000546361.2																			0				endometrium(3)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|stomach(1)|urinary_tract(3)	24						c.(2701-2703)aaG>aaC		calcium homeostasis endoplasmic reticulum protein							53	56	55					19																	16630018		2024	4174	6198	SO:0001627	intron_variant	10523				cellular calcium ion homeostasis|negative regulation of cell proliferation|nervous system development|RNA processing	endoplasmic reticulum|perinuclear region of cytoplasm	RNA binding	g.chr19:16630018C>G	AK025395	CCDS12345.1, CCDS74306.1	19p13.11	2011-11-24			ENSG00000105072	ENSG00000105072			26141	protein-coding gene	gene with protein product						12477932	Standard	NM_032207		Approved	FLJ21742	uc002neh.1	Q9H6X5		ENST00000221671.3:c.1972-887C>G	19.37:g.16630018C>G						CHERP_ENST00000198939.6_Missense_Mutation_p.K912N|CHERP_ENST00000544299.1_5'UTR|CTD-3222D19.2_ENST00000409035.1_3'UTR|C19orf44_ENST00000221671.3_Intron	p.K901N	NM_006387.5	NP_006378.3	Q8IWX8	CHERP_HUMAN			17	2854	-			901					Q8N6Y7	Missense_Mutation	SNP	ENST00000221671.3	37	c.2703G>C	CCDS12345.1	.	.	.	.	.	.	.	.	.	.	C	16.23	3.065868	0.55539	.	.	ENSG00000085872	ENST00000546361;ENST00000198939	T;T	0.31247	1.5;1.5	5.21	4.11	0.48088	.	.	.	.	.	T	0.48277	0.1491	M	0.68317	2.08	0.48395	D	0.99964	D	0.71674	0.998	D	0.76071	0.987	T	0.48703	-0.9012	9	0.87932	D	0	-27.5999	6.9557	0.24570	0.0:0.8114:0.0:0.1886	.	901	Q8IWX8	CHERP_HUMAN	N	901;912	ENSP00000439856:K901N;ENSP00000198939:K912N	ENSP00000198939:K912N	K	-	3	2	CHERP	16491018	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	1.089000	0.30890	2.434000	0.82447	0.555000	0.69702	AAG		0.642	C19orf44-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000461218.1	NM_032207		17	21	0	0	0	1	0	17	21					G	16630018	C	G	16630018	1	3	240	0	1	0	0	0	0	0	0	0	3336	912	32	5		5	CHERP	19	16630018	Intron	SNP	C	TCGA-HC-A4ZV-01A-11D-A26M-08	1742464	16630018	42498965	115	11277											
ABHD8	79575	broad.mit.edu	37	chr19	17405251	17405251	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggagtacgaaggatgacacgTtgaaagcgttgccctccttt	10	10	12	9	3	0	2	0	2	0	0	1	5	1	4	2	2	3	3	2	2	3	4			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr19:17405251T>G	ENST00000247706.3	-	4	1234	c.995A>C	c.(994-996)aAc>aCc	p.N332T	MRPL34_ENST00000595444.1_Intron|MRPL34_ENST00000600434.1_Intron|CTD-2278I10.4_ENST00000594077.1_RNA	NM_024527.4	NP_078803.4	Q96I13	ABHD8_HUMAN	abhydrolase domain containing 8	332							hydrolase activity (GO:0016787)			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(5)|urinary_tract(1)	9						GGATGACACGTTGAAAGCGTT	0.642																																					Ovarian(156;1368 2543 15275 41187)	ENST00000247706.3																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|lung(5)|urinary_tract(1)	9						c.(994-996)aAc>aCc		abhydrolase domain containing 8							163	128	140					19																	17405251		2203	4300	6503	SO:0001583	missense	79575						hydrolase activity	g.chr19:17405251T>G	AK021805	CCDS12355.1	19p13.12	2010-12-09			ENSG00000127220	ENSG00000127220		"Abhydrolase domain containing"	23759	protein-coding gene	gene with protein product						12477932	Standard	NM_024527		Approved	FLJ11743, MGC14280, MGC2512	uc002ngb.4	Q96I13		ENST00000247706.3:c.995A>C	19.37:g.17405251T>G	ENSP00000247706:p.Asn332Thr					MRPL34_ENST00000595444.1_Intron|MRPL34_ENST00000600434.1_Intron	p.N332T	NM_024527.4	NP_078803.4	Q96I13	ABHD8_HUMAN			4	1234	-			332					Q9HAE9	Missense_Mutation	SNP	ENST00000247706.3	37	c.995A>C	CCDS12355.1	.	.	.	.	.	.	.	.	.	.	T	19.66	3.869124	0.72065	.	.	ENSG00000127220	ENST00000247706;ENST00000544788	T	0.66460	-0.21	5.28	5.28	0.74379	.	0.000000	0.85682	D	0.000000	T	0.68165	0.2971	M	0.68317	2.08	0.48762	D	0.999709	B	0.33883	0.43	B	0.43360	0.417	T	0.63139	-0.6704	10	0.09590	T	0.72	-40.9137	13.1538	0.59505	0.0:0.0:0.0:1.0	.	332	Q96I13	ABHD8_HUMAN	T	332;278	ENSP00000247706:N332T	ENSP00000247706:N332T	N	-	2	0	ABHD8	17266251	1.000000	0.71417	0.995000	0.50966	0.785000	0.44390	5.935000	0.70145	1.998000	0.58463	0.533000	0.62120	AAC		0.642	ABHD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462937.1	NM_024527		38	85	0	0	0	1	0	38	85					G	17405251	T	G	17405251	3	3	240	1	0	0	0	0	1	0	0	0	87	1725	60	5	332	5	ABHD8	19	17405251	Missense_Mutation	SNP	T	TCGA-HC-A4ZV-01A-11D-A26M-08	775233	17405251	41723732	116	11278											
COMP	1311	broad.mit.edu	37	chr19	18897449	18897449	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctagggcagttgtcggcctGgttgcggatccctgcagaaa	7	9	14	11	2	0	1	0	0	0	1	2	2	1	2	3	4	2	4	3	4	2	3			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr19:18897449G>C	ENST00000222271.2	-	11	1191	c.1147C>G	c.(1147-1149)Cag>Gag	p.Q383E	COMP_ENST00000542601.2_Missense_Mutation_p.Q350E|COMP_ENST00000425807.1_Missense_Mutation_p.Q330E	NM_000095.2	NP_000086.2	P49747	COMP_HUMAN	cartilage oligomeric matrix protein	383					apoptotic process (GO:0006915)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|growth plate cartilage development (GO:0003417)|limb development (GO:0060173)|negative regulation of apoptotic process (GO:0043066)|organ morphogenesis (GO:0009887)|skeletal system development (GO:0001501)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)|heparan sulfate proteoglycan binding (GO:0043395)|heparin binding (GO:0008201)|protease binding (GO:0002020)			breast(6)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32						TTGTCGGCCTGGTTGCGGATC	0.577																																						ENST00000542601.2																			0				breast(6)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32						c.(1048-1050)Cag>Gag		cartilage oligomeric matrix protein							114	84	94					19																	18897449		2203	4300	6503	SO:0001583	missense	1311				anti-apoptosis|apoptosis|cell adhesion|limb development	extracellular space|proteinaceous extracellular matrix	calcium ion binding|collagen binding|extracellular matrix structural constituent|heparan sulfate proteoglycan binding|heparin binding	g.chr19:18897449G>C	L32137	CCDS12385.1	19p13.1	2008-02-05				ENSG00000105664			2227	protein-coding gene	gene with protein product	"thrombospondin-5"	600310	"cartilage oligomeric matrix protein (pseudoachondroplasia, epiphyseal dysplasia 1, multiple)"	PSACH, EDM1, EPD1		7713493, 8307576	Standard	NM_000095		Approved	MED, THBS5	uc002nke.3	P49747	OTTHUMG00000169318	ENST00000222271.2:c.1147C>G	19.37:g.18897449G>C	ENSP00000222271:p.Gln383Glu					COMP_ENST00000425807.1_Missense_Mutation_p.Q330E|COMP_ENST00000222271.2_Missense_Mutation_p.Q383E	p.Q350E			P49747	COMP_HUMAN			10	1437	-			383					B4DKJ3|O14592|Q16388|Q16389|Q2NL86|Q8N4T2	Missense_Mutation	SNP	ENST00000222271.2	37	c.1048C>G	CCDS12385.1	.	.	.	.	.	.	.	.	.	.	G	1.144	-0.648543	0.03506	.	.	ENSG00000105664	ENST00000542601;ENST00000222271;ENST00000425807;ENST00000454701	D;D;D	0.98264	-4.83;-4.83;-4.83	3.35	-3.48	0.04739	.	0.965742	0.08497	U	0.937075	D	0.88009	0.6322	N	0.01228	-0.945	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	D	0.84920	0.0853	10	0.02654	T	1	1.0744	5.1225	0.14867	0.0:0.2908:0.3965:0.3127	.	330;383	B4DKJ3;P49747	.;COMP_HUMAN	E	350;383;330;370	ENSP00000439156:Q350E;ENSP00000222271:Q383E;ENSP00000403792:Q330E	ENSP00000222271:Q383E	Q	-	1	0	COMP	18758449	0.000000	0.05858	0.000000	0.03702	0.431000	0.31685	-6.574000	0.00061	-0.788000	0.04504	0.313000	0.20887	CAG		0.577	COMP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403457.1	NM_000095		17	26	0	0	0	1	0	17	26					C	18897449	G	C	18897449	3	2	240	1	0	0	0	0	1	0	0	0	3724	1357	47	5	1162	5	COMP	19	18897449	Missense_Mutation	SNP	G	TCGA-HC-A4ZV-01A-11D-A26M-08	1492198	18897449	40231534	117	11279											
CCDC9	26093	broad.mit.edu	37	chr19	47773663	47773663	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cacccgttatctttcccccaGgttcaaggatggcccagtcc	7	10	8	16	1	2	0	1	0	1	0	4	1	4	1	5	3	0	2	5	3	2	3			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr19:47773663G>A	ENST00000221922.6	+	9	1124		c.e9-1			NM_015603.2	NP_056418.1	Q9Y3X0	CCDC9_HUMAN	coiled-coil domain containing 9								poly(A) RNA binding (GO:0044822)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(2)|ovary(1)|pancreas(1)|urinary_tract(1)	12		all_cancers(25;0.0432)|all_epithelial(76;0.00812)|Medulloblastoma(540;0.0208)|all_neural(266;0.0416)|Hepatocellular(1079;0.114)		OV - Ovarian serous cystadenocarcinoma(262;8.51e-95)|Epithelial(262;1.15e-92)|all cancers(93;7.67e-84)|GBM - Glioblastoma multiforme(486;0.024)|STAD - Stomach adenocarcinoma(1328;0.183)		CTTTCCCCCAGGTTCAAGGAT	0.592																																						ENST00000221922.6																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(2)|ovary(1)|pancreas(1)|urinary_tract(1)	12						c.e9-1		coiled-coil domain containing 9							125	101	109					19																	47773663		2203	4300	6503	SO:0001630	splice_region_variant	26093							g.chr19:47773663G>A	AL050284	CCDS12698.1	19q13.33	2008-02-05				ENSG00000105321			24560	protein-coding gene	gene with protein product						11230166	Standard	NM_015603		Approved	DKFZP586M1019	uc010xym.2	Q9Y3X0		ENST00000221922.6:c.903-1G>A	19.37:g.47773663G>A								NM_015603.2	NP_056418.1	Q9Y3X0	CCDC9_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;8.51e-95)|Epithelial(262;1.15e-92)|all cancers(93;7.67e-84)|GBM - Glioblastoma multiforme(486;0.024)|STAD - Stomach adenocarcinoma(1328;0.183)	9	1124	+		all_cancers(25;0.0432)|all_epithelial(76;0.00812)|Medulloblastoma(540;0.0208)|all_neural(266;0.0416)|Hepatocellular(1079;0.114)							Splice_Site	SNP	ENST00000221922.6	37		CCDS12698.1	.	.	.	.	.	.	.	.	.	.	G	11.61	1.690507	0.29962	.	.	ENSG00000105321	ENST00000221922;ENST00000504556	.	.	.	4.4	4.4	0.53042	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.3163	0.54958	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CCDC9	52465503	1.000000	0.71417	0.998000	0.56505	0.234000	0.25298	5.025000	0.64097	2.248000	0.74166	0.484000	0.47621	.		0.592	CCDC9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466917.1	NM_015603	Intron	8	24	0	0	0	1	0	8	24					A	47773663	G	A	47773663	5	1	240	1	0	0	0	0	0	0	1	0	2867	1014	35	3	932	3	CCDC9	19	47773663	Splice_Site	SNP	G	TCGA-HC-A4ZV-01A-11D-A26M-08	28876214	47773663	11355320	118	11280											
PRMT1	3276	broad.mit.edu	37	chr19	50187286	50187286	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	ctactgcctcttctacgagtCcatgctcaacaccgtgctct	7	12	6	16	2	4	0	1	0	3	0	5	1	5	0	3	0	6	2	3	0	3	3			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr19:50187286C>G	ENST00000391851.4	+	5	590	c.461C>G	c.(460-462)tCc>tGc	p.S154C	PRMT1_ENST00000454376.2_Missense_Mutation_p.S172C|MIR5088_ENST00000581740.1_RNA|PRMT1_ENST00000532489.1_Missense_Mutation_p.S126C	NM_198318.4	NP_938074.2	Q99873	ANM1_HUMAN	protein arginine methyltransferase 1	162	SAM-dependent MTase PRMT-type. {ECO:0000255|PROSITE-ProRule:PRU01015}.			DIIISEWMGYCLFYESMLNTVLYARDKWL -> ASSSASGW ATASSTSPCSTPCSMPGTSV (in Ref. 2; BAA11029). {ECO:0000305}.	cell surface receptor signaling pathway (GO:0007166)|histone H4-R3 methylation (GO:0043985)|histone methylation (GO:0016571)|negative regulation of megakaryocyte differentiation (GO:0045653)|neuron projection development (GO:0031175)|peptidyl-arginine methylation (GO:0018216)|peptidyl-arginine methylation, to asymmetrical-dimethyl arginine (GO:0019919)|protein methylation (GO:0006479)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	histone methyltransferase activity (GO:0042054)|histone methyltransferase activity (H4-R3 specific) (GO:0044020)|identical protein binding (GO:0042802)|methyltransferase activity (GO:0008168)|N-methyltransferase activity (GO:0008170)|poly(A) RNA binding (GO:0044822)|protein-arginine omega-N asymmetric methyltransferase activity (GO:0035242)			cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|ovary(2)	12		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00103)|GBM - Glioblastoma multiforme(134;0.012)		TTCTACGAGTCCATGCTCAAC	0.607																																						ENST00000532489.1																			0				cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|ovary(2)	12						c.(376-378)tCc>tGc		protein arginine methyltransferase 1							197	134	155					19																	50187286		2203	4300	6503	SO:0001583	missense	0					cytoplasm	protein methyltransferase activity	g.chr19:50187286C>G	D66904	CCDS42592.1, CCDS46145.1, CCDS74425.1	19q13	2014-06-12	2006-02-16	2006-02-16	ENSG00000126457	ENSG00000126457	2.1.1.125	"Protein arginine methyltransferases"	5187	protein-coding gene	gene with protein product		602950	"HMT1 (hnRNP methyltransferase, S. cerevisiae)-like 2", "HMT1 hnRNP methyltransferase-like 2 (S. cerevisiae)"	HRMT1L2		9545638	Standard	NM_001207042		Approved	HCP1, ANM1	uc010enf.2	Q99873	OTTHUMG00000167568	ENST00000391851.4:c.461C>G	19.37:g.50187286C>G	ENSP00000375724:p.Ser154Cys					PRMT1_ENST00000454376.2_Missense_Mutation_p.S172C|PRMT1_ENST00000391851.4_Missense_Mutation_p.S154C	p.S126C			Q8WUW5	Q8WUW5_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00103)|GBM - Glioblastoma multiforme(134;0.012)	6	883	+		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)	153					B4E3C3|G5E9B6|Q15529|Q2VP93|Q6LEU5|Q8WUW5|Q99872|Q99874|Q9NZ04|Q9NZ05|Q9NZ06	Missense_Mutation	SNP	ENST00000391851.4	37	c.377C>G	CCDS42592.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.17|17.17	3.321012|3.321012	0.60634|0.60634	.|.	.|.	ENSG00000126457|ENSG00000126457	ENST00000524771|ENST00000529284;ENST00000532489;ENST00000527382;ENST00000534465;ENST00000391851;ENST00000449059;ENST00000454376;ENST00000526224	.|T;T;T;T;T;T;T	.|0.25579	.|1.79;1.79;1.79;1.79;1.79;1.79;1.79	4.15|4.15	3.12|3.12	0.35913|0.35913	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.44350|0.44350	0.1289|0.1289	M|M	0.89785|0.89785	3.06|3.06	0.80722|0.80722	D|D	1|1	.|P;P;P;P	.|0.42735	.|0.788;0.788;0.749;0.749	.|P;P;P;B	.|0.48921	.|0.494;0.595;0.459;0.361	T|T	0.50825|0.50825	-0.8782|-0.8782	5|10	.|0.72032	.|D	.|0.01	0.907|0.907	9.608|9.608	0.39645|0.39645	0.0:0.8956:0.0:0.1044|0.0:0.8956:0.0:0.1044	.|.	.|162;126;154;148	.|Q99873;E9PKG1;G5E9B6;Q99873-2	.|ANM1_HUMAN;.;.;.	A|C	182|126;126;126;126;154;148;172;126	.|ENSP00000432349:S126C;ENSP00000433556:S126C;ENSP00000432538:S126C;ENSP00000431957:S126C;ENSP00000375724:S154C;ENSP00000406162:S172C;ENSP00000432788:S126C	.|ENSP00000375724:S154C	P|S	+|+	1|2	0|0	PRMT1|PRMT1	54879098|54879098	1.000000|1.000000	0.71417|0.71417	0.995000|0.995000	0.50966|0.50966	0.688000|0.688000	0.40055|0.40055	7.361000|7.361000	0.79497|0.79497	0.942000|0.942000	0.37525|0.37525	-0.229000|-0.229000	0.12294|0.12294	CCA|TCC		0.607	PRMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395065.1	NM_001536		4	74	0	0	0	1	0	4	74					G	50187286	C	G	50187286	3	3	240	1	0	0	0	0	1	0	0	0	12535	855	30	5	537	5	PRMT1	19	50187286	Missense_Mutation	SNP	C	TCGA-HC-A4ZV-01A-11D-A26M-08	2413623	50187286	8941697	119	11281											
SIGLEC9	27180	broad.mit.edu	37	chr19	51628471	51628471	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggccacaaacaacccagcTcgggcagtgtgggaggagac	11	4	15	11	1	0	1	0	0	0	1	1	3	0	2	2	4	3	2	2	4	2	0			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr19:51628471T>G	ENST00000250360.3	+	1	307	c.240T>G	c.(238-240)gcT>gcG	p.A80A	SIGLEC9_ENST00000440804.3_Silent_p.A80A	NM_014441.2	NP_055256.1	Q9Y336	SIGL9_HUMAN	sialic acid binding Ig-like lectin 9	80	Ig-like V-type.				cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)	integral component of plasma membrane (GO:0005887)	carbohydrate binding (GO:0030246)			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(3)|lung(25)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	45		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.000826)|OV - Ovarian serous cystadenocarcinoma(262;0.00295)		ACAACCCAGCTCGGGCAGTGT	0.572																																						ENST00000440804.3																			0				NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(3)|lung(25)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	45						c.(238-240)gcT>gcG		sialic acid binding Ig-like lectin 9							99	89	93					19																	51628471		2203	4300	6503	SO:0001819	synonymous_variant	27180				cell adhesion|cell surface receptor linked signaling pathway	integral to plasma membrane	sugar binding	g.chr19:51628471T>G	AF135027	CCDS12825.1, CCDS56100.1	19q13.3-q13.4	2013-01-29			ENSG00000129450	ENSG00000129450		"Sialic acid binding Ig-like lectins", "CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	10878	protein-coding gene	gene with protein product		605640				10903842	Standard	NM_014441		Approved	CD329	uc002pvu.3	Q9Y336		ENST00000250360.3:c.240T>G	19.37:g.51628471T>G						SIGLEC9_ENST00000250360.3_Silent_p.A80A	p.A80A	NM_001198558.1	NP_001185487.1	Q9Y336	SIGL9_HUMAN		GBM - Glioblastoma multiforme(134;0.000826)|OV - Ovarian serous cystadenocarcinoma(262;0.00295)	1	307	+		all_neural(266;0.0529)	80			Ig-like V-type.		Q6GTU4|Q9BYI9	Silent	SNP	ENST00000250360.3	37	c.240T>G	CCDS12825.1																																																																																				0.572	SIGLEC9-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000464224.1	NM_014441		28	72	0	0	0	1	0	28	72					G	51628471	T	G	51628471	2	3	240	1	0	0	0	0	0	0	0	1	14315	1538	54	5		5	SIGLEC9	19	51628471	Silent	SNP	T	TCGA-HC-A4ZV-01A-11D-A26M-08	1441185	51628471	7500512	120	11282											
ZFP28	140612	broad.mit.edu	37	chr19	57065052	57065052	+	Splice_Site	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgttttcttggtatctttcaGgccagcgatctgtacatgag	7	16	10	8	1	4	1	1	1	3	0	4	2	4	1	1	2	2	3	1	2	2	6			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr19:57065052G>C	ENST00000301318.3	+	8	969		c.e8-1		AC007228.11_ENST00000596587.1_RNA	NM_020828.1	NP_065879.1	Q8NHY6	ZFP28_HUMAN	ZFP28 zinc finger protein						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(2)|kidney(1)|large_intestine(14)|lung(6)|ovary(1)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	35		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0302)		GTATCTTTCAGGCCAGCGATC	0.373																																					Ovarian(124;554 1662 19430 21141 52494)	ENST00000301318.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(14)|lung(6)|ovary(1)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	35						c.e8-1		ZFP28 zinc finger protein							57	53	55					19																	57065052		2203	4300	6503	SO:0001630	splice_region_variant	140612				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57065052G>C		CCDS12946.1	19q13.43	2013-01-08	2012-11-27			ENSG00000196867		"Zinc fingers, C2H2-type", "-"	17801	protein-coding gene	gene with protein product			"zinc finger protein 28 homolog (mouse)"				Standard	NM_020828		Approved	KIAA1431, mkr5	uc002qnj.3	Q8NHY6		ENST00000301318.3:c.899-1G>C	19.37:g.57065052G>C						AC007228.11_ENST00000596587.1_RNA		NM_020828.1	NP_065879.1	Q8NHY6	ZFP28_HUMAN		GBM - Glioblastoma multiforme(193;0.0302)	8	969	+		Colorectal(82;0.000256)|Ovarian(87;0.243)						A0JNV6|K7ES88|Q8NHU8|Q9BY30|Q9P2B6	Splice_Site	SNP	ENST00000301318.3	37		CCDS12946.1	.	.	.	.	.	.	.	.	.	.	G	13.72	2.322469	0.41096	.	.	ENSG00000196867	ENST00000301318	.	.	.	4.82	3.75	0.43078	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.1705	0.48569	0.0924:0.0:0.9076:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ZFP28	61756864	0.406000	0.25344	0.997000	0.53966	0.863000	0.49368	1.642000	0.37207	2.493000	0.84123	0.655000	0.94253	.		0.373	ZFP28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458409.1	NM_020828	Intron	14	35	0	0	0	1	0	14	35					C	57065052	G	C	57065052	5	2	240	1	0	0	0	0	0	0	1	0	17639	1014	35	5	928	5	ZFP28	19	57065052	Splice_Site	SNP	G	TCGA-HC-A4ZV-01A-11D-A26M-08	5436581	57065052	2063931	121	11283											
FASTKD5	60493	broad.mit.edu	37	chr20	3128064	3128064	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaggctttgaattcatatcCttctctgctaaataccacag	11	14	5	11	0	3	1	2	1	1	0	5	1	4	1	2	1	2	2	2	1	5	6			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr20:3128064C>T	ENST00000380266.3	-	2	1974	c.1653G>A	c.(1651-1653)aaG>aaA	p.K551K	UBOX5-AS1_ENST00000446537.1_RNA|UBOX5_ENST00000217173.2_Intron|UBOX5_ENST00000348031.2_Intron	NM_021826.4	NP_068598.1	Q7L8L6	FAKD5_HUMAN	FAST kinase domains 5	551					cellular respiration (GO:0045333)	mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)			breast(2)|endometrium(2)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(2)	19						AATTCATATCCTTCTCTGCTA	0.448																																						ENST00000380266.3																			0				breast(2)|endometrium(2)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(2)	19						c.(1651-1653)aaG>aaA		FAST kinase domains 5							51	56	55					20																	3128064		2203	4300	6503	SO:0001819	synonymous_variant	60493				apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity	g.chr20:3128064C>T	BC007413	CCDS13048.1	20p13	2006-07-07			ENSG00000215251	ENSG00000215251			25790	protein-coding gene	gene with protein product		614272				11347906	Standard	NM_021826		Approved	FLJ13149	uc002whz.4	Q7L8L6	OTTHUMG00000031727	ENST00000380266.3:c.1653G>A	20.37:g.3128064C>T						UBOX5_ENST00000348031.2_Intron|UBOX5_ENST00000217173.2_Intron|UBOX5-AS1_ENST00000446537.1_RNA	p.K551K	NM_021826.4	NP_068598.1	Q7L8L6	FAKD5_HUMAN			2	1974	-			551					Q96JN3|Q9H5D1|Q9H8Y3	Silent	SNP	ENST00000380266.3	37	c.1653G>A	CCDS13048.1																																																																																				0.448	FASTKD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077701.2	NM_021826		10	35	0	0	0	1	0	10	35					T	3128064	C	T	3128064	2	4	240	1	0	0	0	0	0	0	0	1	5688	680	24	3		3	FASTKD5	20	3128064	Silent	SNP	C	TCGA-HC-A4ZV-01A-11D-A26M-08		3128064	59897456	122	11284											
ZSWIM3	140831	broad.mit.edu	37	chr20	44506572	44506572	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agtccaagaaggcttttggaAtctgtggagagagccttacc	11	10	12	8	0	1	2	0	0	1	2	2	5	2	4	3	3	2	1	3	3	4	3			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr20:44506572A>T	ENST00000255152.2	+	2	1584	c.1375A>T	c.(1375-1377)Atc>Ttc	p.I459F	ZSWIM3_ENST00000454862.2_Missense_Mutation_p.I453F	NM_080752.3	NP_542790.2	Q96MP5	ZSWM3_HUMAN	zinc finger, SWIM-type containing 3	459							zinc ion binding (GO:0008270)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	35		Myeloproliferative disorder(115;0.0122)				GGCTTTTGGAATCTGTGGAGA	0.542																																						ENST00000255152.2																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	35						c.(1375-1377)Atc>Ttc		zinc finger, SWIM-type containing 3							38	39	39					20																	44506572		2203	4300	6503	SO:0001583	missense	140831						zinc ion binding	g.chr20:44506572A>T	AL008726	CCDS13381.1	20q13.12	2014-06-13	2003-12-17	2003-12-19	ENSG00000132801	ENSG00000132801		"Zinc fingers, SWIM-type"	16157	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 174"		"chromosome 20 open reading frame 164"	C20orf164			Standard	NM_080752		Approved	dJ337O18.7, PPP1R174	uc002xqd.3	Q96MP5	OTTHUMG00000032627	ENST00000255152.2:c.1375A>T	20.37:g.44506572A>T	ENSP00000255152:p.Ile459Phe					ZSWIM3_ENST00000454862.2_Missense_Mutation_p.I453F	p.I459F	NM_080752.3	NP_542790.2	Q96MP5	ZSWM3_HUMAN			2	1584	+		Myeloproliferative disorder(115;0.0122)	459					Q9BR13	Missense_Mutation	SNP	ENST00000255152.2	37	c.1375A>T	CCDS13381.1	.	.	.	.	.	.	.	.	.	.	A	0.105	-1.146833	0.01714	.	.	ENSG00000132801	ENST00000255152;ENST00000454862	T;T	0.23348	1.93;1.91	5.41	0.495	0.16890	.	1.019250	0.07810	N	0.957925	T	0.13884	0.0336	N	0.19112	0.55	0.09310	N	1	B;B	0.29716	0.201;0.255	B;B	0.26969	0.075;0.023	T	0.30650	-0.9971	10	0.10377	T	0.69	-2.2311	8.3409	0.32243	0.6415:0.0:0.3585:0.0	.	453;459	E7ETT6;Q96MP5	.;ZSWM3_HUMAN	F	459;453	ENSP00000255152:I459F;ENSP00000406313:I453F	ENSP00000255152:I459F	I	+	1	0	ZSWIM3	43939979	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	0.460000	0.21924	0.150000	0.19136	0.533000	0.62120	ATC		0.542	ZSWIM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079540.1	NM_080752		14	21	0	0	0	1	0	14	21					T	44506572	A	T	44506572	3	4	240	1	0	0	0	0	1	0	0	0	18239	101	4	5	1381	5	ZSWIM3	20	44506572	Missense_Mutation	SNP	A	TCGA-HC-A4ZV-01A-11D-A26M-08	41378508	44506572	18518948	123	11285											
LSM14B	149986	broad.mit.edu	37	chr20	60708507	60708507	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ttcccacagggccgggactgGcagggtgtgagggtgcagcc	6	6	18	11	1	0	1	0	1	0	0	1	2	1	2	3	5	2	2	3	5	0	1			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr20:60708507G>T	ENST00000279068.6	+	8	1308	c.1148G>T	c.(1147-1149)gGc>gTc	p.G383V	LSM14B_ENST00000253001.4_Missense_Mutation_p.G383V	NM_144703.2	NP_653304.2	Q9BX40	LS14B_HUMAN	LSM14B, SCD6 homolog B (S. cerevisiae)	383					multicellular organismal development (GO:0007275)|regulation of translation (GO:0006417)	ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)			endometrium(3)|kidney(1)|lung(4)	8	Breast(26;3.97e-09)		BRCA - Breast invasive adenocarcinoma(19;1.28e-07)			GCCGGGACTGGCAGGGTGTGA	0.637																																						ENST00000253001.4																			0				endometrium(3)|kidney(1)|lung(4)	8						c.(1147-1149)gGc>gTc		LSM14B, SCD6 homolog B (S. cerevisiae)							43	52	49					20																	60708507		2052	4187	6239	SO:0001583	missense	149986				multicellular organismal development|regulation of translation	ribonucleoprotein complex		g.chr20:60708507G>T	AF172328	CCDS46626.1	20q13.33	2010-01-27	2006-12-21	2006-01-24	ENSG00000149657	ENSG00000149657			15887	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 40", "family with sequence similarity 61, member B", "LSM14 homolog B (SCD6, S. cerevisiae)"	C20orf40, FAM61B			Standard	NM_144703		Approved	FT005, bA11M20.3, FLJ25473, LSM13, RAP55B	uc010gjy.1	Q9BX40	OTTHUMG00000032901	ENST00000279068.6:c.1148G>T	20.37:g.60708507G>T	ENSP00000279068:p.Gly383Val					LSM14B_ENST00000279068.6_Missense_Mutation_p.G383V	p.G383V			Q9BX40	LS14B_HUMAN	BRCA - Breast invasive adenocarcinoma(19;1.28e-07)		8	1354	+	Breast(26;3.97e-09)		383					Q6PFW8|Q96LH8	Missense_Mutation	SNP	ENST00000279068.6	37	c.1148G>T	CCDS46626.1	.	.	.	.	.	.	.	.	.	.	G	17.88	3.496522	0.64186	.	.	ENSG00000149657	ENST00000279068;ENST00000253001	T;T	0.52754	0.66;0.65	4.46	4.46	0.54185	.	0.000000	0.64402	D	0.000007	T	0.55226	0.1907	N	0.24115	0.695	0.58432	D	0.999996	D;D;D	0.89917	1.0;0.982;0.99	D;P;P	0.91635	0.999;0.723;0.857	T	0.61237	-0.7103	10	0.72032	D	0.01	.	15.4883	0.75584	0.0:0.0:1.0:0.0	.	303;383;383	E9PG81;Q9BX40;Q9BX40-2	.;LS14B_HUMAN;.	V	383	ENSP00000279068:G383V;ENSP00000253001:G383V	ENSP00000253001:G383V	G	+	2	0	LSM14B	60141902	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	2.980000	0.49321	2.320000	0.78422	0.655000	0.94253	GGC		0.637	LSM14B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079996.4	NM_144703		16	30	1	0	6.49762e-13	1	7.73981e-13	16	30					T	60708507	G	T	60708507	3	4	240	1	0	0	0	0	1	0	0	0	9055	1203	42	5	1178	5	LSM14B	20	60708507	Missense_Mutation	SNP	G	TCGA-HC-A4ZV-01A-11D-A26M-08	16201935	60708507	2317013	124	11286											
DIDO1	11083	broad.mit.edu	37	chr20	61513601	61513601	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggagggcttcttttccgacTgcgggactgtggctactttt	4	15	13	9	2	1	0	0	0	1	0	2	3	2	2	1	4	2	2	1	4	1	6			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr20:61513601T>C	ENST00000266070.4	-	16	4032	c.3707A>G	c.(3706-3708)cAg>cGg	p.Q1236R	DIDO1_ENST00000395343.1_Missense_Mutation_p.Q1236R	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	1236					apoptotic signaling pathway (GO:0097190)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					CTTTTCCGACTGCGGGACTGT	0.592																																					Melanoma(25;381 482 3385 5362 7955 17159 17174 40604 47095)	ENST00000266070.4																			0				NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99						c.(3706-3708)cAg>cGg		death inducer-obliterator 1							86	98	94					20																	61513601		2203	4300	6503	SO:0001583	missense	11083				apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding	g.chr20:61513601T>C	AB002331	CCDS13508.2, CCDS13509.1, CCDS33506.1	20q13.33	2013-01-28	2005-11-11	2005-11-11	ENSG00000101191	ENSG00000101191		"Zinc fingers, PHD-type"	2680	protein-coding gene	gene with protein product		604140	"chromosome 20 open reading frame 158", "death associated transcription factor 1"	C20orf158, DATF1		10393935	Standard	NM_033081		Approved	DIO1, dJ885L7.8, FLJ11265, KIAA0333, DIO-1, BYE1	uc002ydr.2	Q9BTC0	OTTHUMG00000032945	ENST00000266070.4:c.3707A>G	20.37:g.61513601T>C	ENSP00000266070:p.Gln1236Arg					DIDO1_ENST00000395343.1_Missense_Mutation_p.Q1236R	p.Q1236R	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN			16	4032	-	Breast(26;5.68e-08)		1236					A8MY65|B9EH82|E1P5I1|O15043|Q3ZTL7|Q3ZTL8|Q4VXS1|Q4VXS2|Q4VXV8|Q4VXV9|Q96D72|Q9BQW0|Q9BW03|Q9H4G6|Q9H4G7|Q9NTU8|Q9NUM8|Q9UFB6	Missense_Mutation	SNP	ENST00000266070.4	37	c.3707A>G	CCDS33506.1	.	.	.	.	.	.	.	.	.	.	T	5.065	0.197674	0.09652	.	.	ENSG00000101191	ENST00000266070;ENST00000395343	T;T	0.08807	3.05;3.05	5.74	-2.54	0.06307	.	0.369882	0.19338	N	0.116703	T	0.05686	0.0149	L	0.50333	1.59	0.09310	N	1	B	0.22480	0.07	B	0.14023	0.01	T	0.48456	-0.9034	10	0.06236	T	0.91	-11.2887	8.3926	0.32537	0.3042:0.0:0.4072:0.2886	.	1236	Q9BTC0	DIDO1_HUMAN	R	1236	ENSP00000266070:Q1236R;ENSP00000378752:Q1236R	ENSP00000266070:Q1236R	Q	-	2	0	DIDO1	60984046	0.001000	0.12720	0.000000	0.03702	0.027000	0.11550	-0.162000	0.10012	-0.675000	0.05246	0.460000	0.39030	CAG		0.592	DIDO1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080091.2	NM_080796		44	110	0	0	0	1	0	44	110					C	61513601	T	C	61513601	3	2	240	1	0	0	0	0	1	0	0	0	4522	1580	55	4	3019	4	DIDO1	20	61513601	Missense_Mutation	SNP	T	TCGA-HC-A4ZV-01A-11D-A26M-08	805094	61513601	1511919	125	11287											
ZBTB46	140685	broad.mit.edu	37	chr20	62384051	62384051	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcactcaccagcgtgtggcgCttcatgtgctcgcgccgcgt	4	9	13	15	6	2	0	2	0	0	0	3	0	2	0	2	1	2	3	2	1	0	1			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr20:62384051C>T	ENST00000245663.4	-	4	1536	c.1386G>A	c.(1384-1386)aaG>aaA	p.K462K	ZBTB46_ENST00000395104.1_Silent_p.K462K|ZBTB46_ENST00000302995.2_Silent_p.K462K	NM_025224.3	NP_079500.2	Q86UZ6	ZBT46_HUMAN	zinc finger and BTB domain containing 46	462					negative regulation of dendritic cell differentiation (GO:2001199)|negative regulation of granulocyte differentiation (GO:0030853)|negative regulation of macrophage differentiation (GO:0045650)|negative regulation of monocyte differentiation (GO:0045656)|positive regulation of dendritic cell differentiation (GO:2001200)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			endometrium(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	24	all_cancers(38;2.09e-12)|all_epithelial(29;3.8e-14)|Lung NSC(23;7.61e-10)|all_lung(23;2.64e-09)					GCGTGTGGCGCTTCATGTGCT	0.701																																						ENST00000245663.4																			0				endometrium(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	24						c.(1384-1386)aaG>aaA		zinc finger and BTB domain containing 46							51	38	43					20																	62384051		2203	4298	6501	SO:0001819	synonymous_variant	140685				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	g.chr20:62384051C>T	AK131482	CCDS13538.1	20q13.33	2013-01-08	2006-09-19	2006-09-19	ENSG00000130584	ENSG00000130584		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	16094	protein-coding gene	gene with protein product	"BTB-ZF protein expressed in effector lymphocytes"	614639	"BTB (POZ) domain containing 4"	ZNF340, BTBD4			Standard	NM_025224		Approved	FLJ13502, RINZF, BZEL	uc002ygv.2	Q86UZ6	OTTHUMG00000033001	ENST00000245663.4:c.1386G>A	20.37:g.62384051C>T						ZBTB46_ENST00000302995.2_Silent_p.K462K|ZBTB46_ENST00000395104.1_Silent_p.K462K	p.K462K	NM_025224.3	NP_079500.2	Q86UZ6	ZBT46_HUMAN			4	1536	-	all_cancers(38;2.09e-12)|all_epithelial(29;3.8e-14)|Lung NSC(23;7.61e-10)|all_lung(23;2.64e-09)		462					E1P5K9|Q5JWJ3|Q6GMV4|Q9BQK3|Q9H3Z8|Q9H3Z9	Silent	SNP	ENST00000245663.4	37	c.1386G>A	CCDS13538.1																																																																																				0.701	ZBTB46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080232.2	NM_025224		7	10	0	0	0	1	0	7	10					T	62384051	C	T	62384051	2	4	240	1	0	0	0	0	0	0	0	1	17544	796	28	3		3	ZBTB46	20	62384051	Silent	SNP	C	TCGA-HC-A4ZV-01A-11D-A26M-08	870450	62384051	641469	126	11288											
PCP4	5121	broad.mit.edu	37	chr21	41301036	41301036	+	Nonstop_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaggctgggtctcagtcctaGtgggagaaccccctcctagt	8	9	12	12	0	1	1	1	0	1	1	4	2	3	1	4	3	1	1	4	3	4	2			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr21:41301036G>C	ENST00000328619.5	+	3	374	c.189G>C	c.(187-189)taG>taC	p.*63Y	PCP4_ENST00000468717.1_3'UTR	NM_006198.2	NP_006189.2	P48539	PCP4_HUMAN	Purkinje cell protein 4	0					central nervous system development (GO:0007417)	cytosol (GO:0005829)|nucleus (GO:0005634)				large_intestine(2)|lung(1)|skin(1)	4		Prostate(19;2.65e-06)|all_epithelial(19;0.138)				CTCAGTCCTAGTGGGAGAACC	0.468																																						ENST00000328619.5																			0				large_intestine(2)|lung(1)|skin(1)	4						c.(187-189)taG>taC		Purkinje cell protein 4							71	68	69					21																	41301036		2203	4300	6503	SO:0001578	stop_lost	5121				central nervous system development	cytosol|nucleus		g.chr21:41301036G>C	X93349, U53709	CCDS33563.1	21q22.2	2006-12-01			ENSG00000183036	ENSG00000183036			8742	protein-coding gene	gene with protein product		601629				8931698, 8914602	Standard	NM_006198		Approved	PEP-19	uc002yyp.3	P48539	OTTHUMG00000086731	ENST00000328619.5:c.189G>C	21.37:g.41301036G>C	ENSP00000329403:p.*63Tyrext*27					PCP4_ENST00000468717.1_3'UTR	p.*63Y	NM_006198.2	NP_006189.2	P48539	PCP4_HUMAN			3	374	+		Prostate(19;2.65e-06)|all_epithelial(19;0.138)	0					A6NDJ9|Q6ICS4|Q93059	Nonstop_Mutation	SNP	ENST00000328619.5	37	c.189G>C	CCDS33563.1	.	.	.	.	.	.	.	.	.	.	G	11.51	1.659725	0.29515	.	.	ENSG00000183036	ENST00000328619	.	.	.	5.39	4.51	0.55191	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.3573	0.66745	0.0714:0.0:0.9286:0.0	.	.	.	.	Y	63	.	.	X	+	3	2	PCP4	40222906	1.000000	0.71417	0.874000	0.34290	0.419000	0.31324	6.455000	0.73497	1.408000	0.46895	0.655000	0.94253	TAG		0.468	PCP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195025.1	NM_006198		7	27	0	0	0	1	0	7	27					C	41301036	G	C	41301036	4	2	240	1	0	0	0	0	0	0	0	0	11598	1024	36	5	199	5	PCP4	21	41301036	Nonstop_Mutation	SNP	G	TCGA-HC-A4ZV-01A-11D-A26M-08		41301036	6828859	127	11289											
KRTAP10-4	386672	broad.mit.edu	37	chr21	45994012	45994012	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcaagcctgtgtgctgtgTgcccgtctgctgtggggatt	3	13	15	10	1	1	0	0	0	1	0	1	1	1	1	2	2	5	3	2	2	1	1			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr21:45994012T>G	ENST00000400374.3	+	1	407	c.377T>G	c.(376-378)gTg>gGg	p.V126G	TSPEAR_ENST00000323084.4_Intron|TSPEAR_ENST00000397916.1_5'Flank	NM_198687.1	NP_941960.1	P60372	KR104_HUMAN	keratin associated protein 10-4	126	36 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)				NS(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|prostate(1)	18						GTGTGCTGTGTGCCCGTCTGC	0.642																																						ENST00000400374.3																			0				NS(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|prostate(1)	18						c.(376-378)gTg>gGg		keratin associated protein 10-4							177	157	164					21																	45994012		2202	4298	6500	SO:0001583	missense	386672					keratin filament		g.chr21:45994012T>G	AB076351	CCDS42957.1	21q22.3	2006-03-13	2004-07-12	2004-07-14	ENSG00000215454	ENSG00000215454		"Keratin associated proteins"	20521	protein-coding gene	gene with protein product			"keratin associated protein 18-4"	KRTAP18-4			Standard	NM_198687		Approved	KRTAP18.4, KAP10.4	uc002zfk.1	P60372	OTTHUMG00000057641	ENST00000400374.3:c.377T>G	21.37:g.45994012T>G	ENSP00000383225:p.Val126Gly					TSPEAR_ENST00000323084.4_Intron	p.V126G	NM_198687.1	NP_941960.1	P60372	KR104_HUMAN			1	407	+			126			36 X 5 AA repeats of C-C-X(3).		Q08AS0	Missense_Mutation	SNP	ENST00000400374.3	37	c.377T>G	CCDS42957.1	.	.	.	.	.	.	.	.	.	.	N	0.380	-0.929137	0.02359	.	.	ENSG00000215454	ENST00000400374	T	0.01388	4.95	3.55	-5.11	0.02901	.	.	.	.	.	T	0.01870	0.0059	M	0.80982	2.52	0.09310	N	1	P	0.35411	0.5	B	0.36289	0.221	T	0.35076	-0.9803	9	0.23891	T	0.37	.	1.369	0.02207	0.1402:0.2993:0.1426:0.4179	.	126	P60372	KR104_HUMAN	G	126	ENSP00000383225:V126G	ENSP00000383225:V126G	V	+	2	0	KRTAP10-4	44818440	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-3.735000	0.00380	-0.723000	0.04915	0.254000	0.18369	GTG		0.642	KRTAP10-4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128045.1	NM_198687		34	252	0	0	0	1	0	34	252					G	45994012	T	G	45994012	3	3	240	1	0	0	0	0	1	0	0	0	8511	1696	59	5	379	5	KRTAP10-4	21	45994012	Missense_Mutation	SNP	T	TCGA-HC-A4ZV-01A-11D-A26M-08	4692976	45994012	2135883	128	11290											
MRPL40	64976	broad.mit.edu	37	chr22	19423224	19423224	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agagctctgcttctgaagaaGtggtccttgtacaagcagca	11	10	11	9	0	2	3	0	1	2	2	3	3	3	3	1	1	5	5	1	1	4	3			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr22:19423224G>T	ENST00000333130.3	+	4	1013	c.360G>T	c.(358-360)aaG>aaT	p.K120N	MRPL40_ENST00000443660.1_3'UTR|HIRA_ENST00000546308.1_Intron|HIRA_ENST00000541063.1_Intron	NM_003776.2	NP_003767.2	Q9NQ50	RM40_HUMAN	mitochondrial ribosomal protein L40	120					anatomical structure morphogenesis (GO:0009653)	mitochondrial ribosome (GO:0005761)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(1)|upper_aerodigestive_tract(1)	2	Colorectal(54;0.0993)					TTCTGAAGAAGTGGTCCTTGT	0.527																																						ENST00000333130.3																			0				endometrium(1)|upper_aerodigestive_tract(1)	2						c.(358-360)aaG>aaT		mitochondrial ribosomal protein L40							183	188	186					22																	19423224		2203	4300	6503	SO:0001583	missense	64976				anatomical structure morphogenesis	mitochondrial ribosome|nucleus		g.chr22:19423224G>T	AB051624	CCDS13760.1	22q11.2	2012-09-13	2002-11-13		ENSG00000185608	ENSG00000185608		"Mitochondrial ribosomal proteins / large subunits"	14491	protein-coding gene	gene with protein product		605089	"nuclear localization signal deleted in velocardiofacial syndrome"	NLVCF		9790763, 11543634	Standard	NM_003776		Approved	MRP-L22	uc002zpg.3	Q9NQ50	OTTHUMG00000150136	ENST00000333130.3:c.360G>T	22.37:g.19423224G>T	ENSP00000333401:p.Lys120Asn					HIRA_ENST00000546308.1_Intron|MRPL40_ENST00000471259.1_3'UTR|HIRA_ENST00000541063.1_Intron	p.K120N	NM_003776.2	NP_003767.2	Q9NQ50	RM40_HUMAN			4	1013	+	Colorectal(54;0.0993)		120					B3KVZ7|O95134	Missense_Mutation	SNP	ENST00000333130.3	37	c.360G>T	CCDS13760.1	.	.	.	.	.	.	.	.	.	.	G	14.58	2.578872	0.46006	.	.	ENSG00000185608	ENST00000333130	T	0.45668	0.89	5.22	-0.487	0.12060	.	0.347577	0.33023	N	0.005365	T	0.38532	0.1044	L	0.48362	1.52	0.33129	D	0.542824	P	0.39920	0.695	P	0.45794	0.493	T	0.51212	-0.8734	10	0.48119	T	0.1	-7.068	9.4371	0.38646	0.4164:0.0:0.5836:0.0	.	120	Q9NQ50	RM40_HUMAN	N	120	ENSP00000333401:K120N	ENSP00000333401:K120N	K	+	3	2	MRPL40	17803224	1.000000	0.71417	0.913000	0.36048	0.641000	0.38312	0.690000	0.25451	0.089000	0.17243	-0.251000	0.11542	AAG		0.527	MRPL40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316491.2	NM_003776		59	114	1	0	5.47352e-35	1	6.667e-35	59	114					T	19423224	G	T	19423224	3	4	240	1	0	0	0	0	1	0	0	0	9804	1020	36	5	374	5	MRPL40	22	19423224	Missense_Mutation	SNP	G	TCGA-HC-A4ZV-01A-11D-A26M-08		19423224	31881342	129	11291											
MN1	4330	broad.mit.edu	37	chr22	28193262	28193262	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcggtccgtgttccccggcGcctaccccacggggagggag	4	7	15	15	5	0	0	0	0	0	0	3	2	2	2	6	5	1	1	6	5	1	3	rs147753551		TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr22:28193262G>A	ENST00000302326.4	-	1	4224	c.3270C>T	c.(3268-3270)ggC>ggT	p.G1090G		NM_002430.2	NP_002421.3	Q10571	MN1_HUMAN	meningioma (disrupted in balanced translocation) 1	1090					intramembranous ossification (GO:0001957)					NS(1)|breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	45						GTTCCCCGGCGCCTACCCCAC	0.687			T	ETV6	"AML, meningioma"								G|||	1	0.000199681	0	0	5008	,	,		12867	0.001		0	False		,,,				2504	0					ENST00000302326.4				Dom	yes		22	22q13	4330	T	meningioma (disrupted in balanced translocation) 1			"L, O"	ETV6		"AML, meningioma"		0				NS(1)|breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	45						c.(3268-3270)ggC>ggT		meningioma (disrupted in balanced translocation) 1							14	16	15					22																	28193262		1915	4103	6018	SO:0001819	synonymous_variant	4330						binding	g.chr22:28193262G>A	X82209	CCDS42998.1	22q12.1	2010-09-29			ENSG00000169184	ENSG00000169184			7180	protein-coding gene	gene with protein product	"probable tumor suppressor protein MN1"	156100	"meningioma chromosome region"	MGCR		7731706, 12569362	Standard	NM_002430		Approved	MGCR1-PEN, MGCR1	uc003adj.3	Q10571	OTTHUMG00000150975	ENST00000302326.4:c.3270C>T	22.37:g.28193262G>A							p.G1090G	NM_002430.2	NP_002421.3	Q10571	MN1_HUMAN			1	4224	-			1090					A9Z1V9	Silent	SNP	ENST00000302326.4	37	c.3270C>T	CCDS42998.1																																																																																				0.687	MN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320737.1	NM_002430		6	12	0	0	0	1	0	6	12					A	28193262	G	A	28193262	2	1	240	1	0	0	0	0	0	0	0	1	9673	1074	38	1		1	MN1	22	28193262	Silent	SNP	G	TCGA-HC-A4ZV-01A-11D-A26M-08	8770038	28193262	23111304	130	11292											
TRIOBP	11078	broad.mit.edu	37	chr22	38121937	38121937	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcaccccgggcctcctcccCaccacgccaggccccagagc	6	3	9	23	2	0	1	0	0	0	1	2	1	2	1	10	2	2	1	10	2	0	0	rs377423631		TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr22:38121937C>T	ENST00000406386.3	+	7	3629	c.3374C>T	c.(3373-3375)cCa>cTa	p.P1125L		NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	1125					actin modification (GO:0030047)|barbed-end actin filament capping (GO:0051016)|mitotic nuclear division (GO:0007067)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	actin filament binding (GO:0051015)|GTP-Rho binding (GO:0017049)|myosin II binding (GO:0045159)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					GCCTCCTCCCCACCACGCCAG	0.637																																						ENST00000406386.3																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						c.(3373-3375)cCa>cTa		TRIO and F-actin binding protein		C	LEU/PRO	1,3957		0,1,1978	89	101	97		3374	5.1	1	22		97	0,8274		0,0,4137	no	missense	TRIOBP	NM_001039141.2	98	0,1,6115	TT,TC,CC		0.0,0.0253,0.0082	probably-damaging	1125/2366	38121937	1,12231	1979	4137	6116	SO:0001583	missense	11078				actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding	g.chr22:38121937C>T	AB051449	CCDS33644.1, CCDS43015.1, CCDS43016.1	22q13.1	2014-06-03			ENSG00000100106	ENSG00000100106		"Pleckstrin homology (PH) domain containing"	17009	protein-coding gene	gene with protein product		609761		DFNB28		11148140, 16385457, 16385458	Standard	NM_001039141		Approved	HRIHFB2122, KIAA1662, Tara, TAP68	uc003atr.3	Q9H2D6	OTTHUMG00000150657	ENST00000406386.3:c.3374C>T	22.37:g.38121937C>T	ENSP00000384312:p.Pro1125Leu					RP1-37E16.12_ENST00000455236.1_RNA	p.P1125L	NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN			7	3629	+	Melanoma(58;0.0574)		1125					B1AHD4|B1AHD7|F2Z2W0|F8W6V6|O94797|Q2PZW8|Q2Q3Z9|Q2Q400|Q5R3M6|Q96DW1|Q9BT77|Q9BTL7|Q9BY98|Q9Y3L4	Missense_Mutation	SNP	ENST00000406386.3	37	c.3374C>T	CCDS43015.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.948424	0.73787	2.53E-4	0.0	ENSG00000100106	ENST00000406386;ENST00000417174	T	0.48836	0.8	5.13	5.13	0.70059	.	.	.	.	.	T	0.58977	0.2160	L	0.36672	1.1	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.62011	-0.6944	9	0.87932	D	0	.	14.136	0.65289	0.0:1.0:0.0:0.0	.	1125	Q9H2D6	TARA_HUMAN	L	1125	ENSP00000384312:P1125L	ENSP00000384312:P1125L	P	+	2	0	TRIOBP	36451883	0.606000	0.26949	0.973000	0.42090	0.888000	0.51559	1.134000	0.31442	2.402000	0.81655	0.449000	0.29647	CCA		0.637	TRIOBP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319439.2			6	138	0	0	0	1	0	6	138					T	38121937	C	T	38121937	3	4	240	1	0	0	0	0	1	0	0	0	16550	594	21	3	3392	3	TRIOBP	22	38121937	Missense_Mutation	SNP	C	TCGA-HC-A4ZV-01A-11D-A26M-08	9928675	38121937	13182629	131	11293											
KAL1	3730	broad.mit.edu	37	chrX	8553409	8553409	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accatcggctgggtcttatgTcagtcagttgaactcgctcg	7	12	11	11	3	3	1	2	1	1	0	6	1	3	1	1	2	1	3	1	2	2	2	rs368537227		TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chrX:8553409T>C	ENST00000262648.3	-	6	904	c.755A>G	c.(754-756)gAc>gGc	p.D252G		NM_000216.2	NP_000207.2	P23352	KALM_HUMAN	Kallmann syndrome 1 sequence	252	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cellular component movement (GO:0006928)|chemotaxis (GO:0006935)	extracellular space (GO:0005615)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|liver(1)|lung(6)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(1)	32						GGGTCTTATGTCAGTCAGTTG	0.498																																						ENST00000262648.3																			0				breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|liver(1)|lung(6)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(1)	32						c.(754-756)gAc>gGc		Kallmann syndrome 1 sequence							186	130	149					X																	8553409		2203	4300	6503	SO:0001583	missense	3730				axon guidance|cell adhesion|cellular component movement	extracellular space|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|heparin binding|serine-type endopeptidase inhibitor activity	g.chrX:8553409T>C		CCDS14130.1	Xp22.32	2013-02-11			ENSG00000011201	ENSG00000011201		"WAP four-disulfide core domain containing", "Fibronectin type III domain containing"	6211	protein-coding gene	gene with protein product	"anosmin-1", "WAP four-disulfide core domain 19"	300836		KAL, ADMLX		11463336	Standard	NM_000216		Approved	KALIG-1, WFDC19	uc004csf.3	P23352	OTTHUMG00000021107	ENST00000262648.3:c.755A>G	X.37:g.8553409T>C	ENSP00000262648:p.Asp252Gly						p.D252G	NM_000216.2	NP_000207.2	P23352	KALM_HUMAN			6	904	-			252			Fibronectin type-III 1.		B2RPF8	Missense_Mutation	SNP	ENST00000262648.3	37	c.755A>G	CCDS14130.1	.	.	.	.	.	.	.	.	.	.	T	12.47	1.948712	0.34377	.	.	ENSG00000011201	ENST00000262648	T	0.49720	0.77	3.74	3.74	0.42951	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.108809	0.64402	D	0.000009	T	0.42539	0.1207	L	0.49455	1.56	0.58432	D	0.999998	B	0.30361	0.277	B	0.37198	0.243	T	0.16958	-1.0385	10	0.15066	T	0.55	.	11.1894	0.48677	0.0:0.0:0.0:1.0	.	252	P23352	KALM_HUMAN	G	252	ENSP00000262648:D252G	ENSP00000262648:D252G	D	-	2	0	KAL1	8513409	1.000000	0.71417	0.494000	0.27515	0.342000	0.28953	6.591000	0.74090	1.206000	0.43276	0.481000	0.45027	GAC		0.498	KAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055692.1	NM_000216		38	7	0	0	0	1	0	38	7					C	8553409	T	C	8553409	3	2	240	1	0	0	0	0	1	0	0	0	7974	1667	58	4	1323	4	KAL1	23	8553409	Missense_Mutation	SNP	T	TCGA-HC-A4ZV-01A-11D-A26M-08		8553409	146717151	132	11294											
BCORL1	63035	broad.mit.edu	37	chrX	129146576	129146576	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	gagcacctctttctgatgagGagtcaacgacaggcgactgc	10	8	12	11	2	3	2	1	2	2	0	3	6	3	3	1	2	3	1	1	2	1	1			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chrX:129146576G>C	ENST00000218147.7	+	3	306	c.109G>C	c.(109-111)Gag>Cag	p.E37Q	BCORL1_ENST00000540052.1_Missense_Mutation_p.E37Q|BCORL1_ENST00000359304.2_Missense_Mutation_p.E37Q|BCORL1_ENST00000303743.5_Missense_Mutation_p.E37Q			Q5H9F3	BCORL_HUMAN	BCL6 corepressor-like 1	37					chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						TTCTGATGAGGAGTCAACGAC	0.517																																						ENST00000540052.1																			0				breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						c.(109-111)Gag>Cag		BCL6 corepressor-like 1							168	152	157					X																	129146576		2203	4300	6503	SO:0001583	missense	63035				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus		g.chrX:129146576G>C	AL136450	CCDS14616.1	Xq25-q26.1	2014-09-17	2010-06-10		ENSG00000085185	ENSG00000085185		"Ankyrin repeat domain containing"	25657	protein-coding gene	gene with protein product		300688	"chromosome X open reading frame 10", "BCL6 co-repressor-like 1"	CXorf10			Standard	NM_021946		Approved	FLJ11362	uc022cdu.1	Q5H9F3	OTTHUMG00000022379	ENST00000218147.7:c.109G>C	X.37:g.129146576G>C	ENSP00000218147:p.Glu37Gln					BCORL1_ENST00000488135.1_3'UTR|BCORL1_ENST00000218147.7_Missense_Mutation_p.E37Q|BCORL1_ENST00000359304.2_Missense_Mutation_p.E37Q|BCORL1_ENST00000303743.5_Missense_Mutation_p.E37Q	p.E37Q	NM_021946.4	NP_068765.3	Q5H9F3	BCORL_HUMAN			2	153	+			37					B5MDQ8|Q5H9F2|Q5H9F4|Q6ZVE0|Q8TEN3|Q9Y528	Missense_Mutation	SNP	ENST00000218147.7	37	c.109G>C	CCDS14616.1	.	.	.	.	.	.	.	.	.	.	G	17.00	3.277020	0.59758	.	.	ENSG00000085185	ENST00000218147;ENST00000303743;ENST00000359304;ENST00000540052	T;T;T;T	0.55588	0.53;0.89;0.51;0.53	5.42	5.42	0.78866	.	0.000000	0.35772	N	0.002997	T	0.57799	0.2078	N	0.19112	0.55	0.34897	D	0.746161	D	0.69078	0.997	P	0.61397	0.888	T	0.70174	-0.4944	10	0.66056	D	0.02	-20.8722	18.2841	0.90108	0.0:0.0:1.0:0.0	.	37	Q5H9F3	BCORL_HUMAN	Q	37	ENSP00000218147:E37Q;ENSP00000307541:E37Q;ENSP00000352253:E37Q;ENSP00000437775:E37Q	ENSP00000218147:E37Q	E	+	1	0	BCORL1	128974257	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.355000	0.73041	2.256000	0.74724	0.600000	0.82982	GAG		0.517	BCORL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058223.1	NM_021946		28	23	0	0	0	1	0	28	23					C	129146576	G	C	129146576	3	2	240	1	0	0	0	0	1	0	0	0	1387	1175	41	5	115	5	BCORL1	23	129146576	Missense_Mutation	SNP	G	TCGA-HC-A4ZV-01A-11D-A26M-08	120593167	129146576	26123984	133	11295											
BCORL1	63035	broad.mit.edu	37	chrX	129147472	129147472	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcttgttccagtccaagttGccacttcggttccagctcct	5	13	9	14	1	0	0	0	0	0	0	5	0	4	0	5	2	2	5	5	2	1	5			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chrX:129147472G>C	ENST00000218147.7	+	4	921	c.724G>C	c.(724-726)Gcc>Ccc	p.A242P	BCORL1_ENST00000540052.1_Missense_Mutation_p.A242P|BCORL1_ENST00000359304.2_Missense_Mutation_p.A242P|BCORL1_ENST00000303743.5_Missense_Mutation_p.A242P			Q5H9F3	BCORL_HUMAN	BCL6 corepressor-like 1	242	Pro-rich.				chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						AGTCCAAGTTGCCACTTCGGT	0.632																																						ENST00000540052.1																			0				breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						c.(724-726)Gcc>Ccc		BCL6 corepressor-like 1							153	137	143					X																	129147472		2203	4300	6503	SO:0001583	missense	63035				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus		g.chrX:129147472G>C	AL136450	CCDS14616.1	Xq25-q26.1	2014-09-17	2010-06-10		ENSG00000085185	ENSG00000085185		"Ankyrin repeat domain containing"	25657	protein-coding gene	gene with protein product		300688	"chromosome X open reading frame 10", "BCL6 co-repressor-like 1"	CXorf10			Standard	NM_021946		Approved	FLJ11362	uc022cdu.1	Q5H9F3	OTTHUMG00000022379	ENST00000218147.7:c.724G>C	X.37:g.129147472G>C	ENSP00000218147:p.Ala242Pro					BCORL1_ENST00000218147.7_Missense_Mutation_p.A242P|BCORL1_ENST00000359304.2_Missense_Mutation_p.A242P|BCORL1_ENST00000303743.5_Missense_Mutation_p.A242P	p.A242P	NM_021946.4	NP_068765.3	Q5H9F3	BCORL_HUMAN			3	768	+			242			Pro-rich.		B5MDQ8|Q5H9F2|Q5H9F4|Q6ZVE0|Q8TEN3|Q9Y528	Missense_Mutation	SNP	ENST00000218147.7	37	c.724G>C	CCDS14616.1	.	.	.	.	.	.	.	.	.	.	G	8.934	0.964236	0.18583	.	.	ENSG00000085185	ENST00000218147;ENST00000303743;ENST00000359304;ENST00000540052	T;T;T;T	0.52754	0.67;1.05;0.65;0.67	3.33	1.48	0.22813	.	0.000000	0.35151	N	0.003415	T	0.22781	0.0550	N	0.08118	0	0.09310	N	1	B;B	0.09022	0.002;0.0	B;B	0.11329	0.006;0.001	T	0.18999	-1.0319	9	.	.	.	-7.014	8.6736	0.34165	0.2185:0.0:0.7815:0.0	.	242;242	Q5H9F3-2;Q5H9F3	.;BCORL_HUMAN	P	242	ENSP00000218147:A242P;ENSP00000307541:A242P;ENSP00000352253:A242P;ENSP00000437775:A242P	.	A	+	1	0	BCORL1	128975153	0.054000	0.20591	0.818000	0.32626	0.802000	0.45316	0.620000	0.24403	0.255000	0.21593	-0.397000	0.06425	GCC		0.632	BCORL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058223.1	NM_021946		52	42	0	0	0	1	0	52	42					C	129147472	G	C	129147472	3	2	240	1	0	0	0	0	1	0	0	0	1387	1319	46	5	734	5	BCORL1	23	129147472	Missense_Mutation	SNP	G	TCGA-HC-A4ZV-01A-11D-A26M-08	896	129147472	26123088	134	11296											
SAGE1	55511	broad.mit.edu	37	chrX	134990668	134990668	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atcaccatgtccatgaagcaAggatggaaaatggccaacga	16	6	10	9	1	1	1	1	1	0	0	2	4	2	3	3	3	2	1	3	3	5	0			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chrX:134990668A>C	ENST00000370709.3	+	11	1333	c.1333A>C	c.(1333-1335)Agg>Cgg	p.R445R	SAGE1_ENST00000537770.1_Intron|SAGE1_ENST00000535938.1_Silent_p.R445R|SAGE1_ENST00000324447.3_Silent_p.R445R			Q9NXZ1	SAGE1_HUMAN	sarcoma antigen 1	445						nucleus (GO:0005634)				breast(5)|endometrium(5)|large_intestine(10)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	55	Acute lymphoblastic leukemia(192;0.000127)					CCATGAAGCAAGGATGGAAAA	0.423																																						ENST00000535938.1																			0				breast(5)|endometrium(5)|large_intestine(10)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	55						c.(1333-1335)Agg>Cgg		sarcoma antigen 1							174	153	160					X																	134990668		2203	4299	6502	SO:0001819	synonymous_variant	55511							g.chrX:134990668A>C	AJ278111	CCDS14652.1	Xq26	2009-03-25			ENSG00000181433	ENSG00000181433			30369	protein-coding gene	gene with protein product	"cancer/testis antigen 14"	300359				10919659	Standard	NM_018666		Approved	SAGE, CT14	uc004ezh.3	Q9NXZ1	OTTHUMG00000022496	ENST00000370709.3:c.1333A>C	X.37:g.134990668A>C						SAGE1_ENST00000370709.3_Silent_p.R445R|SAGE1_ENST00000537770.1_Intron|SAGE1_ENST00000324447.3_Silent_p.R445R	p.R445R	NM_018666.2	NP_061136.2	Q9NXZ1	SAGE1_HUMAN			12	1500	+	Acute lymphoblastic leukemia(192;0.000127)		445					Q5JNW0	Silent	SNP	ENST00000370709.3	37	c.1333A>C	CCDS14652.1																																																																																				0.423	SAGE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058448.1	NM_018666		32	19	0	0	0	1	0	32	19					C	134990668	A	C	134990668	2	2	240	1	0	0	0	0	0	0	0	1	13809	63	3	5		5	SAGE1	23	134990668	Silent	SNP	A	TCGA-HC-A4ZV-01A-11D-A26M-08	5843196	134990668	20279892	135	11297											
AKR7A2	8574	broad.mit.edu	37	chr1	19632608	19632608	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgcagggccttctccaccaaCgcaatggcctcgaagtggtg	8	8	12	13	2	1	0	0	0	1	0	3	1	1	0	4	3	2	2	4	3	3	1	rs199676246		TCGA-HC-A631-01A-11D-A29Q-08	TCGA-HC-A631-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5949750-2444-4081-ad78-05d4614f4467	9e26e7c1-58ba-4e1d-b9bc-bdac163f4834	g.chr1:19632608C>T	ENST00000235835.3	-	6	843	c.822G>A	c.(820-822)gcG>gcA	p.A274A	RNU6-1099P_ENST00000363533.1_RNA	NM_003689.3	NP_003680.2	O43488	ARK72_HUMAN	aldo-keto reductase family 7, member A2 (aflatoxin aldehyde reductase)	274					carbohydrate metabolic process (GO:0005975)|cellular aldehyde metabolic process (GO:0006081)|daunorubicin metabolic process (GO:0044597)|doxorubicin metabolic process (GO:0044598)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)	alditol:NADP+ 1-oxidoreductase activity (GO:0004032)|electron carrier activity (GO:0009055)|phenanthrene-9,10-epoxide hydrolase activity (GO:0019119)			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	9		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00049)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00461)|BRCA - Breast invasive adenocarcinoma(304;1.83e-05)|Kidney(64;0.000167)|GBM - Glioblastoma multiforme(114;0.00115)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		TCTCCACCAACGCAATGGCCT	0.617																																						ENST00000235835.3																			0				central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	9						c.(820-822)gcG>gcA		aldo-keto reductase family 7, member A2 (aflatoxin aldehyde reductase)							86	79	82					1																	19632608		2203	4300	6503	SO:0001819	synonymous_variant	8574				carbohydrate metabolic process|cellular aldehyde metabolic process	Golgi apparatus	alditol:NADP+ 1-oxidoreductase activity|electron carrier activity	g.chr1:19632608C>T	AF026947	CCDS194.1	1p36.13	2010-09-30			ENSG00000053371	ENSG00000053371		"Aldo-keto reductases"	389	protein-coding gene	gene with protein product		603418				9576847	Standard	NM_003689		Approved	AFAR	uc001bbw.3	O43488	OTTHUMG00000002522	ENST00000235835.3:c.822G>A	1.37:g.19632608C>T							p.A274A	NM_003689.3	NP_003680.2	O43488	ARK72_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00461)|BRCA - Breast invasive adenocarcinoma(304;1.83e-05)|Kidney(64;0.000167)|GBM - Glioblastoma multiforme(114;0.00115)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	6	843	-		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00049)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)	274					O75749|Q5TG63	Silent	SNP	ENST00000235835.3	37	c.822G>A	CCDS194.1																																																																																				0.617	AKR7A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007165.2	NM_003689		9	105	0	0	0	1	0	9	105					T	19632608	C	T	19632608	2	4	241	1	0	0	0	0	0	0	0	1	475	523	19	1		1	AKR7A2	1	19632608	Silent	SNP	C	TCGA-HC-A631-01A-11D-A29Q-08		19632608	229618013	1	11298											
GALE	11313	broad.mit.edu	37	chr1	24124221	24124221	+	IGR	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aggtcccggatcatttcctcGatgaagaacttggacttgcc	9	11	10	11	2	1	2	1	1	0	1	4	5	3	4	3	3	2	0	3	3	2	3	rs370228054		TCGA-HC-A631-01A-11D-A29Q-08	TCGA-HC-A631-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5949750-2444-4081-ad78-05d4614f4467	9e26e7c1-58ba-4e1d-b9bc-bdac163f4834	g.chr1:24124221G>A	ENST00000374514.3	+	0	1810				GALE_ENST00000470383.1_5'Flank|GALE_ENST00000374497.3_Silent_p.I164I	NM_007260.2	NP_009191.1	O95372	LYPA2_HUMAN	lysophospholipase II						fatty acid metabolic process (GO:0006631)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	hydrolase activity (GO:0016787)			endometrium(3)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	8		Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;1.79e-24)|Colorectal(126;4.8e-08)|COAD - Colon adenocarcinoma(152;2.83e-06)|GBM - Glioblastoma multiforme(114;4.22e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000946)|KIRC - Kidney renal clear cell carcinoma(1967;0.00314)|STAD - Stomach adenocarcinoma(196;0.0123)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0827)|LUSC - Lung squamous cell carcinoma(448;0.184)		TCATTTCCTCGATGAAGAACT	0.612																																						ENST00000374497.3																			0				endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(2)	8						c.(490-492)atC>atT		UDP-galactose-4-epimerase		G	,,	0,4406		0,0,2203	78	75	76		492,492,492	-6.9	0.7	1		76	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous,coding-synonymous,coding-synonymous	GALE	NM_000403.3,NM_001008216.1,NM_001127621.1	,,	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	,,	164/349,164/349,164/349	24124221	2,13004	2203	4300	6503	SO:0001628	intergenic_variant	2582				galactose catabolic process	cytosol	coenzyme binding|protein homodimerization activity|UDP-glucose 4-epimerase activity	g.chr1:24124221G>A	AF098668	CCDS241.1	1p36.11	2008-08-08			ENSG00000011009	ENSG00000011009	3.1.1.5		6738	protein-coding gene	gene with protein product							Standard	NM_007260		Approved	APT-2	uc001bht.3	O95372	OTTHUMG00000002961		1.37:g.24124221G>A							p.I164I	NM_000403.3|NM_001008216.1|NM_001127621.1	NP_000394.2|NP_001008217.1|NP_001121093.1	Q14376	GALE_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;1.79e-24)|Colorectal(126;4.8e-08)|COAD - Colon adenocarcinoma(152;2.83e-06)|GBM - Glioblastoma multiforme(114;4.22e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000946)|KIRC - Kidney renal clear cell carcinoma(1967;0.00314)|STAD - Stomach adenocarcinoma(196;0.0123)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0827)|LUSC - Lung squamous cell carcinoma(448;0.184)	6	583	-		Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)	164					Q7Z4Z2	Silent	SNP	ENST00000374514.3	37	c.492C>T	CCDS241.1																																																																																				0.612	LYPLA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008245.1			4	73	0	0	0	1	0	4	73					A	24124221	G	A	24124221	1	1	241	0	1	0	0	0	0	0	0	0	6202	1048	37	2		2	GALE	1	24124221	IGR	SNP	G	TCGA-HC-A631-01A-11D-A29Q-08	4491613	24124221	225126400	2	11299											
PTCH2	8643	broad.mit.edu	37	chr1	45295299	45295299	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	taccgacctgcacaaagcgcCgctgccaggcttgtagcact	9	7	10	15	3	0	0	0	0	0	0	0	1	0	0	4	1	5	5	4	1	3	3			TCGA-HC-A631-01A-11D-A29Q-08	TCGA-HC-A631-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5949750-2444-4081-ad78-05d4614f4467	9e26e7c1-58ba-4e1d-b9bc-bdac163f4834	g.chr1:45295299C>T	ENST00000372192.3	-	8	1200	c.1070G>A	c.(1069-1071)cGg>cAg	p.R357Q	PTCH2_ENST00000447098.2_Missense_Mutation_p.R357Q	NM_003738.4	NP_003729.3	Q9Y6C5	PTC2_HUMAN	patched 2	357					epidermis development (GO:0008544)|hair cycle (GO:0042633)|negative regulation of smoothened signaling pathway (GO:0045879)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	hedgehog family protein binding (GO:0097108)|hedgehog receptor activity (GO:0008158)|smoothened binding (GO:0005119)			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	50	Acute lymphoblastic leukemia(166;0.155)					CACAAAGCGCCGCTGCCAGGC	0.617									Basal Cell Nevus syndrome																													ENST00000447098.2																			0				NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	50						c.(1069-1071)cGg>cAg		patched 2							106	111	109					1																	45295299		2203	4300	6503	SO:0001583	missense	8643	Basal Cell Nevus syndrome	Familial Cancer Database	Gorlin syndrome, Gorlin-Golz syndrome, Naevoid Basal Cell Carcinoma syndrome, NBCCS	protein complex assembly|spermatogenesis	integral to plasma membrane	hedgehog receptor activity	g.chr1:45295299C>T	AF091501	CCDS516.1, CCDS53312.1	1p34.1	2010-06-24	2010-06-24		ENSG00000117425	ENSG00000117425			9586	protein-coding gene	gene with protein product		603673	"patched (Drosophila) homolog 2", "patched homolog 2 (Drosophila)"			9811851, 9931336	Standard	NM_003738		Approved		uc010olf.2	Q9Y6C5	OTTHUMG00000008490	ENST00000372192.3:c.1070G>A	1.37:g.45295299C>T	ENSP00000361266:p.Arg357Gln					PTCH2_ENST00000372192.3_Missense_Mutation_p.R357Q	p.R357Q	NM_001166292.1	NP_001159764.1	Q9Y6C5	PTC2_HUMAN			8	1081	-	Acute lymphoblastic leukemia(166;0.155)		357					O95341|O95856|Q53Z57|Q5QP87|Q6UX14	Missense_Mutation	SNP	ENST00000372192.3	37	c.1070G>A	CCDS516.1	.	.	.	.	.	.	.	.	.	.	C	33	5.198780	0.94997	.	.	ENSG00000117425	ENST00000447098;ENST00000372192	D;D	0.91521	-2.86;-2.86	4.53	4.53	0.55603	.	0.000000	0.48767	D	0.000167	D	0.95664	0.8590	M	0.87456	2.885	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.76071	0.982;0.987	D	0.95635	0.8693	10	0.46703	T	0.11	-22.4146	17.0576	0.86539	0.0:1.0:0.0:0.0	.	357;357	Q9Y6C5-2;Q9Y6C5	.;PTC2_HUMAN	Q	357	ENSP00000389703:R357Q;ENSP00000361266:R357Q	ENSP00000361266:R357Q	R	-	2	0	PTCH2	45067886	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.262000	0.78410	2.356000	0.79943	0.561000	0.74099	CGG		0.617	PTCH2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000023428.4	NM_003738		13	155	0	0	0	1	0	13	155					T	45295299	C	T	45295299	3	4	241	1	0	0	0	0	1	0	0	0	12731	652	23	2	2621	2	PTCH2	1	45295299	Missense_Mutation	SNP	C	TCGA-HC-A631-01A-11D-A29Q-08	21171078	45295299	203955322	3	11300											
LRRIQ3	127255	broad.mit.edu	37	chr1	74575077	74575077	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	taataaactaattatacttaCatgtttccaatatgcaagct	16	15	3	7	0	0	0	0	0	0	0	1	0	1	0	1	0	5	3	1	0	10	8			TCGA-HC-A631-01A-11D-A29Q-08	TCGA-HC-A631-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5949750-2444-4081-ad78-05d4614f4467	9e26e7c1-58ba-4e1d-b9bc-bdac163f4834	g.chr1:74575077C>A	ENST00000395089.1	-	4	867		c.e4+1		LRRIQ3_ENST00000370909.2_Splice_Site|LRRIQ3_ENST00000468759.1_Splice_Site|LRRIQ3_ENST00000354431.4_Splice_Site			A6PVS8	LRIQ3_HUMAN	leucine-rich repeats and IQ motif containing 3											NS(2)|breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(13)|liver(1)|lung(27)|ovary(3)|prostate(1)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(5)	73						ATTATACTTACATGTTTCCAA	0.269																																						ENST00000354431.4																			0				NS(2)|breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(13)|liver(1)|lung(27)|ovary(3)|prostate(1)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(5)	73						c.e5+1		leucine-rich repeats and IQ motif containing 3							45	36	39					1																	74575077		1777	4037	5814	SO:0001630	splice_region_variant	127255							g.chr1:74575077C>A	BX647210	CCDS41350.1	1p31.1	2008-06-12	2008-06-12	2008-06-12	ENSG00000162620	ENSG00000162620			28318	protein-coding gene	gene with protein product			"leucine rich repeat containing 44"	LRRC44		12477932	Standard	NM_001105659		Approved	MGC22773	uc001dfy.4	A6PVS8	OTTHUMG00000009508	ENST00000395089.1:c.867+1G>T	1.37:g.74575077C>A						LRRIQ3_ENST00000395089.1_Splice_Site|LRRIQ3_ENST00000370909.2_Splice_Site|LRRIQ3_ENST00000468759.1_Splice_Site		NM_001105659.1	NP_001099129.1	A6PVS8	LRIQ3_HUMAN			5	1059	-								A6PVS9|Q6P5P7|Q6ZMV4|Q8WUE0	Splice_Site	SNP	ENST00000395089.1	37		CCDS41350.1	.	.	.	.	.	.	.	.	.	.	C	19.10	3.762185	0.69763	.	.	ENSG00000162620	ENST00000395089;ENST00000354431;ENST00000370909;ENST00000388972	.	.	.	3.83	3.83	0.44106	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.5518	0.50725	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	LRRIQ3	74347665	1.000000	0.71417	1.000000	0.80357	0.820000	0.46376	3.152000	0.50677	2.438000	0.82558	0.585000	0.79938	.		0.269	LRRIQ3-008	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316539.1	NM_145258	Intron	4	6	1	0	0.00024832	1	0.000255961	4	6					A	74575077	C	A	74575077	5	1	241	1	0	0	0	0	0	0	1	0	9030	492	17	5	1022	5	LRRIQ3	1	74575077	Splice_Site	SNP	C	TCGA-HC-A631-01A-11D-A29Q-08	29279778	74575077	174675544	4	11301											
PTGS2	5743	broad.mit.edu	37	chr1	186647446	186647446	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcacaggaggaagggctctaGtataataggagaggttagag	14	7	16	4	0	1	2	0	0	1	2	1	5	1	4	0	5	0	4	0	5	6	5			TCGA-HC-A631-01A-11D-A29Q-08	TCGA-HC-A631-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5949750-2444-4081-ad78-05d4614f4467	9e26e7c1-58ba-4e1d-b9bc-bdac163f4834	g.chr1:186647446G>A	ENST00000367468.5	-	4	540	c.404C>T	c.(403-405)aCt>aTt	p.T135I	RP5-973M2.2_ENST00000608917.1_lincRNA|PTGS2_ENST00000490885.2_5'UTR	NM_000963.2	NP_000954.1	P35354	PGH2_HUMAN	prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase)	135					anagen (GO:0042640)|angiogenesis (GO:0001525)|arachidonic acid metabolic process (GO:0019369)|bone mineralization (GO:0030282)|brown fat cell differentiation (GO:0050873)|cellular component movement (GO:0006928)|cellular response to ATP (GO:0071318)|cellular response to hypoxia (GO:0071456)|cellular response to mechanical stimulus (GO:0071260)|cellular response to UV (GO:0034644)|cyclooxygenase pathway (GO:0019371)|decidualization (GO:0046697)|embryo implantation (GO:0007566)|inflammatory response (GO:0006954)|learning (GO:0007612)|lipoxygenase pathway (GO:0019372)|maintenance of blood-brain barrier (GO:0035633)|memory (GO:0007613)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell proliferation (GO:0008285)|negative regulation of smooth muscle contraction (GO:0045986)|negative regulation of synaptic transmission, dopaminergic (GO:0032227)|ovulation (GO:0030728)|positive regulation of apoptotic process (GO:0043065)|positive regulation of brown fat cell differentiation (GO:0090336)|positive regulation of cell migration involved in sprouting angiogenesis (GO:0090050)|positive regulation of fever generation (GO:0031622)|positive regulation of fibroblast growth factor production (GO:0090271)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of platelet-derived growth factor production (GO:0090362)|positive regulation of prostaglandin biosynthetic process (GO:0031394)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of synaptic plasticity (GO:0031915)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transforming growth factor beta production (GO:0071636)|positive regulation of vasoconstriction (GO:0045907)|positive regulation vascular endothelial growth factor production (GO:0010575)|prostaglandin biosynthetic process (GO:0001516)|prostaglandin metabolic process (GO:0006693)|regulation of blood pressure (GO:0008217)|regulation of inflammatory response (GO:0050727)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to fatty acid (GO:0070542)|response to fructose (GO:0009750)|response to glucocorticoid (GO:0051384)|response to lipopolysaccharide (GO:0032496)|response to lithium ion (GO:0010226)|response to manganese ion (GO:0010042)|response to oxidative stress (GO:0006979)|response to tumor necrosis factor (GO:0034612)|response to vitamin D (GO:0033280)|sensory perception of pain (GO:0019233)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|neuron projection (GO:0043005)|nucleus (GO:0005634)|protein complex (GO:0043234)	arachidonate 15-lipoxygenase activity (GO:0050473)|enzyme binding (GO:0019899)|heme binding (GO:0020037)|lipid binding (GO:0008289)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)|prostaglandin-endoperoxide synthase activity (GO:0004666)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	27					Acetaminophen(DB00316)|Acetylsalicylic acid(DB00945)|Aldesleukin(DB00041)|Aminosalicylic Acid(DB00233)|Antipyrine(DB01435)|Antrafenine(DB01419)|Balsalazide(DB01014)|Bromfenac(DB00963)|Bumetanide(DB00887)|Carprofen(DB00821)|Celecoxib(DB00482)|Chlorphenesin(DB00856)|Cisplatin(DB00515)|Clodronate(DB00720)|Dapsone(DB00250)|Desmopressin(DB00035)|Diclofenac(DB00586)|Diflunisal(DB00861)|Dihomo-gamma-linolenic acid(DB00154)|Drospirenone(DB01395)|Etanercept(DB00005)|Etodolac(DB00749)|Etoposide(DB00773)|Etoricoxib(DB01628)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|Ginseng(DB01404)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lenalidomide(DB00480)|Lornoxicam(DB06725)|Lumiracoxib(DB01283)|Magnesium salicylate(DB01397)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mesalazine(DB00244)|Nabumetone(DB00461)|Naproxen(DB00788)|Nepafenac(DB06802)|Niflumic Acid(DB04552)|Nonoxynol-9(DB06804)|Oxaprozin(DB00991)|Phenylbutazone(DB00812)|Piroxicam(DB00554)|Pomalidomide(DB08910)|Risedronate(DB00884)|Salicylate-sodium(DB01398)|Salicylic acid(DB00936)|Salsalate(DB01399)|Sulfasalazine(DB00795)|Sulindac(DB00605)|Suprofen(DB00870)|Tafluprost(DB08819)|Tenoxicam(DB00469)|Tetrahydrobiopterin(DB00360)|Thalidomide(DB01041)|Tiaprofenic acid(DB01600)|Tolmetin(DB00500)|Triamcinolone(DB00620)|Trisalicylate-choline(DB01401)	AAGGGCTCTAGTATAATAGGA	0.438																																						ENST00000367468.5																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	27						c.(403-405)aCt>aTt		prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase)	Acetaminophen(DB00316)|Aspirin(DB00945)|Balsalazide(DB01014)|Bromfenac(DB00963)|Carprofen(DB00821)|Celecoxib(DB00482)|Ciclopirox(DB01188)|Diclofenac(DB00586)|Diflunisal(DB00861)|Epoprostenol(DB01240)|Etodolac(DB00749)|Etoricoxib(DB01628)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|gamma-Homolinolenic acid(DB00154)|Ginseng(DB01404)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lenalidomide(DB00480)|Lumiracoxib(DB01283)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mesalazine(DB00244)|Nabumetone(DB00461)|Naproxen(DB00788)|Oxaprozin(DB00991)|Phenylbutazone(DB00812)|Rofecoxib(DB00533)|Salicyclic acid(DB00936)|Salsalate(DB01399)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Thalidomide(DB01041)|Tiaprofenic acid(DB01600)|Tolmetin(DB00500)|Valdecoxib(DB00580)						102	92	95					1																	186647446		2203	4300	6503	SO:0001583	missense	5743				cellular component movement|cyclooxygenase pathway|hormone biosynthetic process|positive regulation of brown fat cell differentiation|positive regulation of cell migration involved in sprouting angiogenesis|positive regulation of fever generation|positive regulation of fibroblast growth factor production|positive regulation of nitric oxide biosynthetic process|positive regulation of platelet-derived growth factor production|positive regulation of prostaglandin biosynthetic process|positive regulation of transforming growth factor-beta production|positive regulation vascular endothelial growth factor production|regulation of blood pressure|response to oxidative stress|xenobiotic metabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|microsome|neuron projection|nucleus	enzyme binding|heme binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peroxidase activity|prostaglandin-endoperoxide synthase activity	g.chr1:186647446G>A	D28235	CCDS1371.1	1q25.2-q25.3	2008-02-05			ENSG00000073756	ENSG00000073756	1.14.99.1		9605	protein-coding gene	gene with protein product		600262				1380156	Standard	NM_000963		Approved	COX2	uc001gsb.3	P35354	OTTHUMG00000035473	ENST00000367468.5:c.404C>T	1.37:g.186647446G>A	ENSP00000356438:p.Thr135Ile					PTGS2_ENST00000490885.2_5'UTR	p.T135I	NM_000963.2	NP_000954.1	P35354	PGH2_HUMAN			4	540	-			135					A8K802|Q16876	Missense_Mutation	SNP	ENST00000367468.5	37	c.404C>T	CCDS1371.1	.	.	.	.	.	.	.	.	.	.	G	33	5.211841	0.95069	.	.	ENSG00000073756	ENST00000367468	T	0.18960	2.18	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	T	0.56848	0.2013	M	0.92317	3.295	0.80722	D	1	D	0.63046	0.992	D	0.63877	0.919	T	0.68085	-0.5502	10	0.87932	D	0	-20.695	19.4409	0.94820	0.0:0.0:1.0:0.0	.	135	P35354	PGH2_HUMAN	I	135	ENSP00000356438:T135I	ENSP00000356438:T135I	T	-	2	0	PTGS2	184914069	1.000000	0.71417	0.990000	0.47175	0.961000	0.63080	9.622000	0.98378	2.589000	0.87451	0.655000	0.94253	ACT		0.438	PTGS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086157.2	NM_000963		8	46	0	0	0	1	0	8	46					A	186647446	G	A	186647446	3	1	241	1	0	0	0	0	1	0	0	0	12756	1029	36	3	1438	3	PTGS2	1	186647446	Missense_Mutation	SNP	G	TCGA-HC-A631-01A-11D-A29Q-08	112072369	186647446	62603175	5	11302											
HHAT	55733	broad.mit.edu	37	chr1	210522367	210522367	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacctacttgcctcactaggCttccacttctattccttcta	7	16	3	15	0	3	0	1	0	2	0	5	0	5	0	4	1	3	1	4	1	5	10			TCGA-HC-A631-01A-11D-A29Q-08	TCGA-HC-A631-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5949750-2444-4081-ad78-05d4614f4467	9e26e7c1-58ba-4e1d-b9bc-bdac163f4834	g.chr1:210522367C>T	ENST00000367010.1	+	2	275	c.48C>T	c.(46-48)ggC>ggT	p.G16G	HHAT_ENST00000545154.1_Intron|HHAT_ENST00000545781.1_Intron|HHAT_ENST00000537898.1_Silent_p.G16G|HHAT_ENST00000261458.3_Silent_p.G16G|HHAT_ENST00000413764.2_Silent_p.G16G|HHAT_ENST00000308852.6_5'UTR|HHAT_ENST00000391905.3_Silent_p.G16G|HHAT_ENST00000541565.1_Silent_p.G16G	NM_001170580.1	NP_001164051.1	Q5VTY9	HHAT_HUMAN	hedgehog acyltransferase	16					multicellular organismal development (GO:0007275)|protein palmitoylation (GO:0018345)|smoothened signaling pathway (GO:0007224)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	GTP binding (GO:0005525)|palmitoyltransferase activity (GO:0016409)			breast(3)|central_nervous_system(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	27				OV - Ovarian serous cystadenocarcinoma(81;0.0136)|all cancers(67;0.161)|KIRC - Kidney renal clear cell carcinoma(1967;0.215)		CCTCACTAGGCTTCCACTTCT	0.478																																						ENST00000367010.1																			0				breast(3)|central_nervous_system(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	27						c.(46-48)ggC>ggT		hedgehog acyltransferase							121	103	109					1																	210522367		2203	4300	6503	SO:0001819	synonymous_variant	55733				multicellular organismal development	endoplasmic reticulum membrane|integral to membrane	GTP binding	g.chr1:210522367C>T	AK001586	CCDS1495.1, CCDS53471.1, CCDS53472.1, CCDS53473.1	1q32	2008-02-05			ENSG00000054392	ENSG00000054392			18270	protein-coding gene	gene with protein product		605743				11160356	Standard	NM_001170587		Approved	FLJ10724, MART-2, MART2, Skn, ski, rasp, sit, GUP2	uc009xcx.3	Q5VTY9	OTTHUMG00000036447	ENST00000367010.1:c.48C>T	1.37:g.210522367C>T						HHAT_ENST00000545781.1_Intron|HHAT_ENST00000413764.2_Silent_p.G16G|HHAT_ENST00000261458.3_Silent_p.G16G|HHAT_ENST00000541565.1_Silent_p.G16G|HHAT_ENST00000537898.1_Silent_p.G16G|HHAT_ENST00000308852.6_5'UTR|HHAT_ENST00000545154.1_Intron|HHAT_ENST00000391905.3_Silent_p.G16G	p.G16G	NM_001170580.1	NP_001164051.1	Q5VTY9	HHAT_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0136)|all cancers(67;0.161)|KIRC - Kidney renal clear cell carcinoma(1967;0.215)	2	275	+			16					B7Z4D5|B7Z5I1|B7Z868|B7ZA75|D3DT91|F5H444|Q17RZ7|Q4G0K3|Q5CZ95|Q5TGI2|Q9NVH9|Q9Y3N8	Silent	SNP	ENST00000367010.1	37	c.48C>T	CCDS1495.1																																																																																				0.478	HHAT-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088662.1	NM_018194		18	30	0	0	0	1	0	18	30					T	210522367	C	T	210522367	2	4	241	1	0	0	0	0	0	0	0	1	7089	784	28	3		3	HHAT	1	210522367	Silent	SNP	C	TCGA-HC-A631-01A-11D-A29Q-08	23874921	210522367	38728254	6	11303											
CABC1	56997	broad.mit.edu	37	chr1	227170646	227170646	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggcgggacaagttggaatacTtcgaggagcggcccttcgcc	8	7	15	11	4	0	0	0	0	0	0	2	4	0	3	2	5	2	1	2	5	3	4	rs201334858		TCGA-HC-A631-01A-11D-A29Q-08	TCGA-HC-A631-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5949750-2444-4081-ad78-05d4614f4467	9e26e7c1-58ba-4e1d-b9bc-bdac163f4834	g.chr1:227170646T>G	ENST00000366779.1	+	13	3762	c.991T>G	c.(991-993)Ttc>Gtc	p.F331V	ADCK3_ENST00000366777.3_Missense_Mutation_p.F331V|ADCK3_ENST00000478406.1_3'UTR|ADCK3_ENST00000433743.2_Intron|ADCK3_ENST00000366778.1_Missense_Mutation_p.F279V|ADCK3_ENST00000458507.2_Missense_Mutation_p.F52V			Q8NI60	ADCK3_HUMAN	aarF domain containing kinase 3	331	Protein kinase.				cell death (GO:0008219)|ubiquinone biosynthetic process (GO:0006744)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			endometrium(1)|kidney(2)|large_intestine(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	9						GTTGGAATACTTCGAGGAGCG	0.647																																						ENST00000366779.1																			0				endometrium(1)|kidney(2)|large_intestine(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	9						c.(991-993)Ttc>Gtc		aarF domain containing kinase 3							19	21	20					1																	227170646		2200	4298	6498	SO:0001583	missense	56997				cell death	mitochondrion	ATP binding|protein serine/threonine kinase activity	g.chr1:227170646T>G	AJ278126	CCDS1557.1	1q42.11	2011-05-03	2010-10-01	2010-10-01	ENSG00000163050	ENSG00000163050			16812	protein-coding gene	gene with protein product	"coenzyme Q8 homolog (yeast)"	606980	"chaperone-ABC1 (activity of bc1 complex, S.pombe)-like", "chaperone, ABC1 activity of bc1 complex like (S. pombe)", "chaperone, ABC1 activity of bc1 complex homolog (S. pombe)"	CABC1			Standard	NM_020247		Approved	COQ8, SCAR9	uc001hqn.1	Q8NI60	OTTHUMG00000037621	ENST00000366779.1:c.991T>G	1.37:g.227170646T>G	ENSP00000355741:p.Phe331Val					ADCK3_ENST00000366777.3_Missense_Mutation_p.F331V|ADCK3_ENST00000433743.2_Intron|ADCK3_ENST00000366775.1_Missense_Mutation_p.F176V|ADCK3_ENST00000366778.1_Missense_Mutation_p.F279V|ADCK3_ENST00000478406.1_3'UTR|ADCK3_ENST00000458507.2_Missense_Mutation_p.F52V|ADCK3_ENST00000366776.1_Missense_Mutation_p.F256V	p.F331V			Q8NI60	ADCK3_HUMAN			13	3762	+			331			Protein kinase.		Q5T7A5|Q63HK0|Q8NCJ6|Q9HBQ1|Q9NQ67	Missense_Mutation	SNP	ENST00000366779.1	37	c.991T>G	CCDS1557.1	.	.	.	.	.	.	.	.	.	.	T	36	5.673105	0.96754	.	.	ENSG00000163050	ENST00000366779;ENST00000366778;ENST00000366777;ENST00000366776;ENST00000458507;ENST00000366775;ENST00000405743	T;T;T;T;T;T	0.66995	-0.24;-0.24;-0.24;-0.24;-0.24;-0.24	5.66	5.66	0.87406	ABC-1 (1);Protein kinase-like domain (1);	0.000000	0.85682	D	0.000000	D	0.85120	0.5624	M	0.90870	3.155	0.80722	D	1	D	0.76494	0.999	D	0.70016	0.967	D	0.88651	0.3182	10	0.87932	D	0	-15.7929	15.8882	0.79269	0.0:0.0:0.0:1.0	.	331	Q8NI60	ADCK3_HUMAN	V	331;279;331;256;52;176;282	ENSP00000355741:F331V;ENSP00000355740:F279V;ENSP00000355739:F331V;ENSP00000355738:F256V;ENSP00000403704:F52V;ENSP00000355737:F176V	ENSP00000355737:F176V	F	+	1	0	ADCK3	225237269	1.000000	0.71417	0.998000	0.56505	0.965000	0.64279	7.997000	0.88414	2.166000	0.68216	0.454000	0.30748	TTC		0.647	ADCK3-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091712.1	NM_020247		10	12	0	0	0	1	0	10	12					G	227170646	T	G	227170646	3	3	241	1	0	0	0	0	1	0	0	0	2527	1609	56	5	1017	5	CABC1	1	227170646	Missense_Mutation	SNP	T	TCGA-HC-A631-01A-11D-A29Q-08	16648279	227170646	22079975	7	11304											
PPM1G	5496	broad.mit.edu	37	chr2	27604624	27604624	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgcaggtcatgttgtcacAccctgtaccatccccagaag	10	9	9	13	0	2	1	2	0	0	1	3	2	3	1	4	1	2	3	4	1	2	2			TCGA-HC-A631-01A-11D-A29Q-08	TCGA-HC-A631-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5949750-2444-4081-ad78-05d4614f4467	9e26e7c1-58ba-4e1d-b9bc-bdac163f4834	g.chr2:27604624A>G	ENST00000344034.4	-	10	1747	c.1483T>C	c.(1483-1485)Tgt>Cgt	p.C495R	ZNF513_ENST00000323703.6_5'Flank|PPM1G_ENST00000350803.4_Missense_Mutation_p.C495R|ZNF513_ENST00000491924.1_5'Flank|ZNF513_ENST00000407879.1_5'Flank	NM_177983.2	NP_817092.1	O15355	PPM1G_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1G	495					cell cycle arrest (GO:0007050)|peptidyl-threonine dephosphorylation (GO:0035970)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)			endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	19	Acute lymphoblastic leukemia(172;0.155)					ATGTTGTCACACCCTGTACCA	0.547																																						ENST00000344034.4																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	19						c.(1483-1485)Tgt>Cgt		protein phosphatase, Mg2+/Mn2+ dependent, 1G							137	130	133					2																	27604624		2203	4300	6503	SO:0001583	missense	5496				cell cycle arrest|protein dephosphorylation	cytoplasm|nucleus|protein serine/threonine phosphatase complex	metal ion binding|protein serine/threonine phosphatase activity	g.chr2:27604624A>G	Y13936	CCDS1752.1	2p23.3	2012-04-17	2010-03-05		ENSG00000115241	ENSG00000115241	3.1.3.16	"Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"	9278	protein-coding gene	gene with protein product	"PP2C, gamma", "protein phosphatase 2C, gamma isoform"	605119	"protein phosphatase 1G (formerly 2C), magnesium-dependent, gamma isoform"			9276438	Standard	NM_177983		Approved	PP2CG, PP2Cgamma	uc002rkl.4	O15355	OTTHUMG00000097788	ENST00000344034.4:c.1483T>C	2.37:g.27604624A>G	ENSP00000342778:p.Cys495Arg					PPM1G_ENST00000350803.4_Missense_Mutation_p.C495R	p.C495R	NM_177983.2	NP_817092.1	O15355	PPM1G_HUMAN			10	1747	-	Acute lymphoblastic leukemia(172;0.155)		495						Missense_Mutation	SNP	ENST00000344034.4	37	c.1483T>C	CCDS1752.1	.	.	.	.	.	.	.	.	.	.	A	18.73	3.687233	0.68157	.	.	ENSG00000115241	ENST00000344034;ENST00000350803;ENST00000544412;ENST00000395543	T;T	0.08546	3.08;3.08	5.99	4.82	0.62117	Protein phosphatase 2C-like (4);	0.000000	0.85682	D	0.000000	T	0.25457	0.0619	M	0.72894	2.215	0.80722	D	1	D;P	0.76494	0.999;0.845	D;P	0.72075	0.976;0.467	T	0.00630	-1.1636	10	0.87932	D	0	-4.2202	10.2912	0.43596	0.8529:0.0:0.0:0.1471	.	296;495	Q59GB2;O15355	.;PPM1G_HUMAN	R	495;495;478;296	ENSP00000342778:C495R;ENSP00000264714:C495R	ENSP00000342778:C495R	C	-	1	0	PPM1G	27458128	1.000000	0.71417	0.996000	0.52242	0.976000	0.68499	9.339000	0.96797	1.065000	0.40693	-0.333000	0.08304	TGT		0.547	PPM1G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215032.1	NM_002707		4	89	0	0	0	1	0	4	89					G	27604624	A	G	27604624	3	3	241	1	0	0	0	0	1	0	0	0	12340	159	6	4	161	4	PPM1G	2	27604624	Missense_Mutation	SNP	A	TCGA-HC-A631-01A-11D-A29Q-08		27604624	215594749	8	11305											
SMEK2	57223	broad.mit.edu	37	chr2	55844316	55844316	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaccagcagcgacatcccctTgagctcctccacgtaagtgg	10	7	9	15	2	0	1	0	1	0	0	3	2	3	1	5	1	4	3	5	1	2	2	rs199629271		TCGA-HC-A631-01A-11D-A29Q-08	TCGA-HC-A631-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5949750-2444-4081-ad78-05d4614f4467	9e26e7c1-58ba-4e1d-b9bc-bdac163f4834	g.chr2:55844316T>C	ENST00000345102.5	-	1	407	c.106A>G	c.(106-108)Aag>Gag	p.K36E	SMEK2_ENST00000407823.3_Missense_Mutation_p.K36E|SMEK2_ENST00000272313.5_Missense_Mutation_p.K36E|RP11-554J4.1_ENST00000608113.1_RNA|SMEK2_ENST00000477749.1_5'UTR	NM_001122964.1	NP_001116436	Q5MIZ7	P4R3B_HUMAN	SMEK homolog 2, suppressor of mek1 (Dictyostelium)	36	WH1.				positive regulation of gluconeogenesis (GO:0045722)|protein dephosphorylation (GO:0006470)|regulation of lipid metabolic process (GO:0019216)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|protein phosphatase 4 complex (GO:0030289)				kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	16			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			GACATCCCCTTGAGCTCCTCC	0.592													T|||	1	0.000199681	0	0	5008	,	,		18889	0.001		0	False		,,,				2504	0					ENST00000272313.5																			0				kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	16						c.(106-108)Aag>Gag		SMEK homolog 2, suppressor of mek1 (Dictyostelium)							77	72	73					2																	55844316		2203	4300	6503	SO:0001583	missense	57223					microtubule organizing center|nucleus	protein binding	g.chr2:55844316T>C	AB037808	CCDS1855.1, CCDS46289.1, CCDS62913.1	2p16.1	2008-09-15			ENSG00000138041				29267	protein-coding gene	gene with protein product		610352				16085932, 18614045	Standard	NM_001122964		Approved	PSY2, FLFL2, KIAA1387, FLJ31474	uc002rzc.3	Q5MIZ7	OTTHUMG00000129336	ENST00000345102.5:c.106A>G	2.37:g.55844316T>C	ENSP00000339769:p.Lys36Glu					SMEK2_ENST00000407823.3_Missense_Mutation_p.K36E|SMEK2_ENST00000345102.5_Missense_Mutation_p.K36E|SMEK2_ENST00000477749.1_5'UTR	p.K36E	NM_020463.2	NP_065196.1	Q5MIZ7	P4R3B_HUMAN	LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)		1	433	-			36			WH1.		Q6P9B0|Q86XB8|Q9BQJ0|Q9BRK2|Q9H913|Q9P2G0	Missense_Mutation	SNP	ENST00000345102.5	37	c.106A>G	CCDS46289.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	T	18.75	3.690970	0.68271	.	.	ENSG00000138041	ENST00000272313;ENST00000407823;ENST00000345102	T;T;T	0.42513	0.97;0.97;0.97	5.19	5.19	0.71726	Pleckstrin homology-type (1);	0.046693	0.85682	D	0.000000	T	0.23572	0.0570	N	0.05050	-0.12	0.80722	D	1	B;B;B	0.12013	0.002;0.005;0.0	B;B;B	0.14578	0.005;0.011;0.002	T	0.08086	-1.0739	10	0.19590	T	0.45	-10.6913	15.2232	0.73330	0.0:0.0:0.0:1.0	.	36;36;36	Q5MIZ7-2;Q5MIZ7;Q5MIZ7-3	.;P4R3B_HUMAN;.	E	36	ENSP00000272313:K36E;ENSP00000385912:K36E;ENSP00000339769:K36E	ENSP00000272313:K36E	K	-	1	0	SMEK2	55697820	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.554000	0.82212	2.184000	0.69523	0.533000	0.62120	AAG		0.592	SMEK2-002	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251483.1	NM_020463		38	52	0	0	0	1	0	38	52					C	55844316	T	C	55844316	3	2	241	1	0	0	0	0	1	0	0	0	14794	1821	63	4	2511	4	SMEK2	2	55844316	Missense_Mutation	SNP	T	TCGA-HC-A631-01A-11D-A29Q-08	28239692	55844316	187355057	9	11306											
SCN1A	6323	broad.mit.edu	37	chr2	166908358	166908358	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agcattggtgggaggccattGtatacatttattcctcaggt	9	14	11	7	0	1	0	1	0	0	0	2	1	2	1	2	4	2	2	2	4	3	7			TCGA-HC-A631-01A-11D-A29Q-08	TCGA-HC-A631-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5949750-2444-4081-ad78-05d4614f4467	9e26e7c1-58ba-4e1d-b9bc-bdac163f4834	g.chr2:166908358G>A	ENST00000303395.4	-	6	834	c.835C>T	c.(835-837)Caa>Taa	p.Q279*	SCN1A_ENST00000409050.1_Nonsense_Mutation_p.Q279*|SCN1A_ENST00000423058.2_Nonsense_Mutation_p.Q279*|AC010127.3_ENST00000599041.1_RNA|AC010127.3_ENST00000595647.1_RNA|AC010127.3_ENST00000595268.1_RNA|SCN1A_ENST00000375405.3_Nonsense_Mutation_p.Q279*			P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	279					adult walking behavior (GO:0007628)|membrane depolarization during action potential (GO:0086010)|neuromuscular process controlling posture (GO:0050884)|neuronal action potential (GO:0019228)|neuronal action potential propagation (GO:0019227)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon initial segment (GO:0043194)|intercalated disc (GO:0014704)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)|Z disc (GO:0030018)	voltage-gated sodium channel activity (GO:0005248)			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Dronedarone(DB04855)|Nitrazepam(DB01595)|Permethrin(DB04930)|Phenacemide(DB01121)|Phenazopyridine(DB01438)|Phenytoin(DB00252)|Topiramate(DB00273)|Valproic Acid(DB00313)|Zonisamide(DB00909)	GGAGGCCATTGTATACATTTA	0.393																																						ENST00000423058.2																			0				NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200						c.(835-837)Caa>Taa		sodium channel, voltage-gated, type I, alpha subunit	Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)						95	95	95					2																	166908358		2203	4299	6502	SO:0001587	stop_gained	6323					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:166908358G>A	AB093548	CCDS33316.1, CCDS54413.1, CCDS54414.1	2q24.3	2014-09-17	2007-01-23		ENSG00000144285	ENSG00000144285		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10585	protein-coding gene	gene with protein product		182389	"febrile convulsions 3"	SCN1, FEB3		8062593, 16382098, 11823106	Standard	NM_006920		Approved	Nav1.1, GEFSP2, HBSCI, NAC1, SMEI	uc021vsb.1	P35498	OTTHUMG00000044173	ENST00000303395.4:c.835C>T	2.37:g.166908358G>A	ENSP00000303540:p.Gln279*					AC010127.3_ENST00000595268.1_RNA|SCN1A_ENST00000375405.3_Nonsense_Mutation_p.Q279*|SCN1A_ENST00000409050.1_Nonsense_Mutation_p.Q279*|SCN1A_ENST00000303395.4_Nonsense_Mutation_p.Q279*|AC010127.3_ENST00000599041.1_RNA|AC010127.3_ENST00000595647.1_RNA	p.Q279*	NM_001165963.1|NM_001202435.1	NP_001159435.1|NP_001189364.1	P35498	SCN1A_HUMAN			6	852	-			279					E9PG49|Q16172|Q585T7|Q8IUJ6|Q96LA3|Q9C008	Nonsense_Mutation	SNP	ENST00000303395.4	37	c.835C>T	CCDS54413.1	.	.	.	.	.	.	.	.	.	.	G	26.4	4.734358	0.89482	.	.	ENSG00000144285	ENST00000423058;ENST00000303395;ENST00000375405;ENST00000409050	.	.	.	5.41	5.41	0.78517	.	0.000000	0.64402	D	0.000005	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.8211	0.63320	0.0736:0.0:0.9264:0.0	.	.	.	.	X	279	.	ENSP00000303540:Q279X	Q	-	1	0	SCN1A	166616604	0.980000	0.34600	0.623000	0.29173	0.662000	0.39071	2.579000	0.46059	2.688000	0.91661	0.655000	0.94253	CAA		0.393	SCN1A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102661.1	NM_006920		32	27	0	0	0	1	0	32	27					A	166908358	G	A	166908358	4	1	241	1	0	0	0	0	0	1	0	0	13914	1386	48	3	5278	3	SCN1A	2	166908358	Nonsense_Mutation	SNP	G	TCGA-HC-A631-01A-11D-A29Q-08	111064042	166908358	76291015	10	11307											
SP3	6670	broad.mit.edu	37	chr2	174777796	174777796	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gttaaaagtaagtattagtaAcctgtatgtgttcttctgtg	11	17	9	4	0	2	0	0	0	2	0	2	0	2	0	1	0	1	6	1	0	7	8			TCGA-HC-A631-01A-11D-A29Q-08	TCGA-HC-A631-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5949750-2444-4081-ad78-05d4614f4467	9e26e7c1-58ba-4e1d-b9bc-bdac163f4834	g.chr2:174777796A>G	ENST00000310015.6	-	6	2560		c.e6+1		SP3_ENST00000418194.2_Splice_Site|SP3_ENST00000455789.2_Splice_Site	NM_001172712.1|NM_003111.4	NP_001166183.1|NP_003102.1	Q02447	SP3_HUMAN	Sp3 transcription factor						B cell differentiation (GO:0030183)|definitive hemopoiesis (GO:0060216)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic placenta development (GO:0001892)|embryonic process involved in female pregnancy (GO:0060136)|embryonic skeletal system development (GO:0048706)|enucleate erythrocyte differentiation (GO:0043353)|granulocyte differentiation (GO:0030851)|liver development (GO:0001889)|lung development (GO:0030324)|megakaryocyte differentiation (GO:0030219)|monocyte differentiation (GO:0030224)|natural killer cell differentiation (GO:0001779)|negative regulation of transcription, DNA-templated (GO:0045892)|ossification (GO:0001503)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|T cell differentiation (GO:0030217)|trophectodermal cell differentiation (GO:0001829)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|double-stranded DNA binding (GO:0003690)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)		EWSR1/SP3(3)	NS(2)|large_intestine(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	9			OV - Ovarian serous cystadenocarcinoma(117;0.185)			AGTATTAGTAACCTGTATGTG	0.353																																						ENST00000310015.6																		EWSR1/SP3(3)	0				NS(2)|large_intestine(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	9						c.e6+1		Sp3 transcription factor							80	75	77					2																	174777796		2203	4300	6503	SO:0001630	splice_region_variant	6670				negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	PML body	protein binding|zinc ion binding	g.chr2:174777796A>G	M97191	CCDS2254.1, CCDS46452.1	2q31	2013-01-08			ENSG00000172845	ENSG00000172845		"Specificity protein transcription factors", "Zinc fingers, C2H2-type"	11208	protein-coding gene	gene with protein product		601804				1341900, 1454515	Standard	NM_003111		Approved	SPR-2	uc002uig.3	Q02447	OTTHUMG00000132333	ENST00000310015.6:c.2029+1T>C	2.37:g.174777796A>G						SP3_ENST00000455789.2_Splice_Site|SP3_ENST00000418194.2_Splice_Site		NM_001172712.1|NM_003111.4	NP_001166183.1|NP_003102.1	Q02447	SP3_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.185)		6	2560	-								A0AVL9|B4E2B7|Q69B26|Q69B27|Q8TD56|Q8WWU4|Q9BQR1	Splice_Site	SNP	ENST00000310015.6	37		CCDS2254.1	.	.	.	.	.	.	.	.	.	.	A	19.05	3.751114	0.69533	.	.	ENSG00000172845	ENST00000310015;ENST00000455789;ENST00000418194;ENST00000416195	.	.	.	5.71	5.71	0.89125	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.979	0.80091	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SP3	174486042	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	9.060000	0.93907	2.182000	0.69389	0.460000	0.39030	.		0.353	SP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255452.1	NM_003111	Intron	13	26	0	0	0	1	0	13	26					G	174777796	A	G	174777796	5	3	241	1	0	0	0	0	0	0	1	0	14965	57	2	4	322	4	SP3	2	174777796	Splice_Site	SNP	A	TCGA-HC-A631-01A-11D-A29Q-08	7869438	174777796	68421577	11	11308											
IQCF3	401067	broad.mit.edu	37	chr3	51864449	51864449	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cacaactgcatcacagaaaaAgggtgaaggcagctgggcag	15	4	13	9	0	1	2	1	1	0	1	1	2	1	2	0	3	3	4	0	3	4	0			TCGA-HC-A631-01A-11D-A29Q-08	TCGA-HC-A631-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5949750-2444-4081-ad78-05d4614f4467	9e26e7c1-58ba-4e1d-b9bc-bdac163f4834	g.chr3:51864449A>G	ENST00000456080.1	+	8	1262	c.97A>G	c.(97-99)Agg>Ggg	p.R33G	IQCF3_ENST00000437810.2_Missense_Mutation_p.R33G|IQCF3_ENST00000462079.1_3'UTR|IQCF3_ENST00000444293.1_Intron|IQCF3_ENST00000446775.1_Missense_Mutation_p.R33G|IQCF3_ENST00000440739.2_Missense_Mutation_p.R33G			P0C7M6	IQCF3_HUMAN	IQ motif containing F3	33										endometrium(1)|large_intestine(2)|lung(2)|ovary(1)	6				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		TCACAGAAAAAGGGTGAAGGC	0.557																																						ENST00000456080.1																			0				endometrium(1)|large_intestine(2)|lung(2)|ovary(1)	6						c.(97-99)Agg>Ggg		IQ motif containing F3							58	63	61					3																	51864449		2111	4246	6357	SO:0001583	missense	401067							g.chr3:51864449A>G	AK057432	CCDS46837.1	3p21.31	2008-06-12			ENSG00000229972	ENSG00000229972			31816	protein-coding gene	gene with protein product							Standard	NM_001085479		Approved		uc021wyz.1	P0C7M6	OTTHUMG00000156910	ENST00000456080.1:c.97A>G	3.37:g.51864449A>G	ENSP00000415609:p.Arg33Gly					IQCF3_ENST00000446775.1_Missense_Mutation_p.R33G|IQCF3_ENST00000462079.1_3'UTR|IQCF3_ENST00000444293.1_Intron|IQCF3_ENST00000440739.2_Missense_Mutation_p.R33G|IQCF3_ENST00000437810.2_Missense_Mutation_p.R33G	p.R33G			P0C7M6	IQCF3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	8	1262	+			33					B2RUV0	Missense_Mutation	SNP	ENST00000456080.1	37	c.97A>G	CCDS46837.1	.	.	.	.	.	.	.	.	.	.	A	12.03	1.816628	0.32145	.	.	ENSG00000229972	ENST00000456080;ENST00000437810;ENST00000446775;ENST00000440739	T;T;T;T	0.34859	1.34;1.34;1.34;1.34	4.57	3.4	0.38934	.	.	.	.	.	T	0.18173	0.0436	N	0.08118	0	0.09310	N	1	P	0.39480	0.675	B	0.39771	0.309	T	0.08534	-1.0717	9	0.19147	T	0.46	.	7.0235	0.24926	0.8966:0.0:0.1034:0.0	.	33	P0C7M6	IQCF3_HUMAN	G	33	ENSP00000415609:R33G;ENSP00000409373:R33G;ENSP00000401767:R33G;ENSP00000402012:R33G	ENSP00000409373:R33G	R	+	1	2	IQCF3	51839489	0.000000	0.05858	0.001000	0.08648	0.057000	0.15508	0.475000	0.22164	0.897000	0.36392	0.533000	0.62120	AGG		0.557	IQCF3-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346579.2	NM_001085479		4	98	0	0	0	1	0	4	98					G	51864449	A	G	51864449	3	3	241	1	0	0	0	0	1	0	0	0	7809	63	3	4	107	4	IQCF3	3	51864449	Missense_Mutation	SNP	A	TCGA-HC-A631-01A-11D-A29Q-08		51864449	146157981	12	11309											
RHO	6010	broad.mit.edu	37	chr3	129251241	129251241	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tttttctgctatgggcagctCgtcttcaccgtcaaggaggt	6	14	11	10	2	4	0	2	0	2	0	5	1	4	1	1	3	2	3	1	3	2	4			TCGA-HC-A631-01A-11D-A29Q-08	TCGA-HC-A631-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5949750-2444-4081-ad78-05d4614f4467	9e26e7c1-58ba-4e1d-b9bc-bdac163f4834	g.chr3:129251241C>T	ENST00000296271.3	+	3	772	c.678C>T	c.(676-678)ctC>ctT	p.L226L		NM_000539.3	NP_000530.1	P08100	OPSD_HUMAN	rhodopsin	226					G-protein coupled receptor signaling pathway (GO:0007186)|phototransduction, visible light (GO:0007603)|protein phosphorylation (GO:0006468)|protein-chromophore linkage (GO:0018298)|red, far-red light phototransduction (GO:0009585)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|retina development in camera-type eye (GO:0060041)|retinoid metabolic process (GO:0001523)|rhodopsin mediated signaling pathway (GO:0016056)|visual perception (GO:0007601)	cell-cell junction (GO:0005911)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|photoreceptor disc membrane (GO:0097381)|photoreceptor inner segment (GO:0001917)|photoreceptor inner segment membrane (GO:0060342)|photoreceptor outer segment (GO:0001750)|photoreceptor outer segment membrane (GO:0042622)|plasma membrane (GO:0005886)|rough endoplasmic reticulum membrane (GO:0030867)	G-protein coupled receptor activity (GO:0004930)|metal ion binding (GO:0046872)|photoreceptor activity (GO:0009881)|retinal binding (GO:0016918)			breast(1)|endometrium(1)|large_intestine(10)|lung(6)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	22		all_neural(597;0.0227)|Myeloproliferative disorder(1037;0.0255)|Prostate(884;0.183)		GBM - Glioblastoma multiforme(114;2.58e-05)|Lung(219;0.0234)	Halothane(DB01159)	ATGGGCAGCTCGTCTTCACCG	0.592																																					Esophageal Squamous(118;214 1623 30842 43234 46940)	ENST00000296271.3																			0				breast(1)|endometrium(1)|large_intestine(10)|lung(6)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	22						c.(676-678)ctC>ctT		rhodopsin	Halothane(DB01159)						177	156	163					3																	129251241		2203	4300	6503	SO:0001819	synonymous_variant	6010				protein-chromophore linkage|rhodopsin mediated signaling pathway	Golgi apparatus|integral to plasma membrane|photoreceptor inner segment membrane|photoreceptor outer segment membrane	G-protein coupled receptor activity|metal ion binding|photoreceptor activity|protein binding	g.chr3:129251241C>T	AB065668	CCDS3063.1	3q21-q24	2014-01-28	2008-04-16		ENSG00000163914	ENSG00000163914		"GPCR / Class A : Opsin receptors"	10012	protein-coding gene	gene with protein product	"opsin 2, rod pigment"	180380	"retinitis pigmentosa 4, autosomal dominant"	RP4		2016091	Standard	NM_000539		Approved	OPN2, CSNBAD1	uc003emt.3	P08100	OTTHUMG00000159542	ENST00000296271.3:c.678C>T	3.37:g.129251241C>T							p.L226L	NM_000539.3	NP_000530.1	P08100	OPSD_HUMAN		GBM - Glioblastoma multiforme(114;2.58e-05)|Lung(219;0.0234)	3	772	+		all_neural(597;0.0227)|Myeloproliferative disorder(1037;0.0255)|Prostate(884;0.183)	226					Q16414|Q2M249	Silent	SNP	ENST00000296271.3	37	c.678C>T	CCDS3063.1																																																																																				0.592	RHO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356101.1	NM_000539		59	50	0	0	0	1	0	59	50					T	129251241	C	T	129251241	2	4	241	1	0	0	0	0	0	0	0	1	13330	871	31	2		2	RHO	3	129251241	Silent	SNP	C	TCGA-HC-A631-01A-11D-A29Q-08	77386792	129251241	68771189	13	11310											
ZIC1	7545	broad.mit.edu	37	chr3	147128793	147128793	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacatccgcgtgcacacgggCgagaagccctttccctgccc	7	6	10	18	4	0	1	0	0	0	1	2	2	2	1	4	1	3	1	4	1	1	1			TCGA-HC-A631-01A-11D-A29Q-08	TCGA-HC-A631-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5949750-2444-4081-ad78-05d4614f4467	9e26e7c1-58ba-4e1d-b9bc-bdac163f4834	g.chr3:147128793C>T	ENST00000282928.4	+	1	1623	c.894C>T	c.(892-894)ggC>ggT	p.G298G		NM_003412.3	NP_003403.2	Q15915	ZIC1_HUMAN	Zic family member 1	298					adult walking behavior (GO:0007628)|brain development (GO:0007420)|cell differentiation (GO:0030154)|inner ear morphogenesis (GO:0042472)|pattern specification process (GO:0007389)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of smoothened signaling pathway (GO:0008589)|spinal cord development (GO:0021510)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(4)|cervix(1)|endometrium(2)|large_intestine(8)|lung(38)|ovary(1)|prostate(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	63						TGCACACGGGCGAGAAGCCCT	0.557																																						ENST00000282928.4																			0				central_nervous_system(4)|cervix(1)|endometrium(2)|large_intestine(8)|lung(38)|ovary(1)|prostate(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	63						c.(892-894)ggC>ggT		Zic family member 1							94	97	96					3																	147128793		2203	4300	6503	SO:0001819	synonymous_variant	7545				behavior|brain development|cell differentiation|inner ear morphogenesis|pattern specification process|positive regulation of protein import into nucleus|positive regulation of transcription, DNA-dependent|regulation of smoothened signaling pathway	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr3:147128793C>T	D76435	CCDS3136.1	3q24	2013-01-08	2011-05-19		ENSG00000152977	ENSG00000152977		"Zinc fingers, C2H2-type"	12872	protein-coding gene	gene with protein product		600470	"Zic family member 1 (odd-paired Drosophila homolog)", "Zic family member 1 (odd-paired homolog, Drosophila)"			8542595	Standard	NM_003412		Approved	ZIC, ZNF201	uc003ewe.3	Q15915	OTTHUMG00000159456	ENST00000282928.4:c.894C>T	3.37:g.147128793C>T							p.G298G	NM_003412.3	NP_003403.2	Q15915	ZIC1_HUMAN			1	1623	+			298					Q2M3N1	Silent	SNP	ENST00000282928.4	37	c.894C>T	CCDS3136.1																																																																																				0.557	ZIC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355497.1	NM_003412		11	160	0	0	0	1	0	11	160					T	147128793	C	T	147128793	2	4	241	1	0	0	0	0	0	0	0	1	17675	755	27	1		1	ZIC1	3	147128793	Silent	SNP	C	TCGA-HC-A631-01A-11D-A29Q-08	17877552	147128793	50893637	14	11311											
MECOM	2122	broad.mit.edu	37	chr3	168819875	168819875	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tatagcgctcctttcccttcCgcagaaggttctctggcagg	6	12	10	13	2	1	1	0	0	1	1	5	1	4	1	3	3	1	4	3	3	3	5			TCGA-HC-A631-01A-11D-A29Q-08	TCGA-HC-A631-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5949750-2444-4081-ad78-05d4614f4467	9e26e7c1-58ba-4e1d-b9bc-bdac163f4834	g.chr3:168819875C>T	ENST00000464456.1	-	9	3353	c.2153G>A	c.(2152-2154)cGg>cAg	p.R718Q	MECOM_ENST00000468789.1_Missense_Mutation_p.R727Q|MECOM_ENST00000472280.1_Missense_Mutation_p.R728Q|MECOM_ENST00000460814.1_Missense_Mutation_p.R718Q|MECOM_ENST00000392736.3_Missense_Mutation_p.R727Q|MECOM_ENST00000494292.1_Missense_Mutation_p.R906Q|MECOM_ENST00000433243.2_Missense_Mutation_p.R728Q|MECOM_ENST00000264674.3_Missense_Mutation_p.R792Q	NM_001164000.1	NP_001157472.1	Q13465	MDS1_HUMAN	MDS1 and EVI1 complex locus	0					regulation of transcription, DNA-templated (GO:0006355)		sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						CTTTCCCTTCCGCAGAAGGTT	0.502																																						ENST00000464456.1																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						c.(2152-2154)cGg>cAg		MDS1 and EVI1 complex locus							68	65	66					3																	168819875		2203	4300	6503	SO:0001583	missense	2122						sequence-specific DNA binding transcription factor activity	g.chr3:168819875C>T	S82592, AF164154	CCDS3205.1, CCDS54669.1, CCDS54670.1	3q26.2	2013-01-08	2009-08-07	2009-08-07	ENSG00000085276	ENSG00000085276		"Zinc fingers, C2H2-type"	3498	protein-coding gene	gene with protein product		165215	"myelodysplasia syndrome 1", "ecotropic viral integration site 1"	MDS1, EVI1		2115646, 8171026, 8643684	Standard	NM_001105077		Approved	MDS1-EVI1, PRDM3	uc011bpj.1	Q03112	OTTHUMG00000158596	ENST00000464456.1:c.2153G>A	3.37:g.168819875C>T	ENSP00000419770:p.Arg718Gln					MECOM_ENST00000392736.3_Missense_Mutation_p.R727Q|MECOM_ENST00000494292.1_Missense_Mutation_p.R906Q|MECOM_ENST00000472280.1_Missense_Mutation_p.R728Q|MECOM_ENST00000468789.1_Missense_Mutation_p.R727Q|MECOM_ENST00000264674.3_Missense_Mutation_p.R792Q|MECOM_ENST00000460814.1_Missense_Mutation_p.R718Q|MECOM_ENST00000433243.2_Missense_Mutation_p.R728Q	p.R718Q	NM_001164000.1	NP_001157472.1	Q13465	MDS1_HUMAN			9	3353	-			0					Q13466|Q6FH90	Missense_Mutation	SNP	ENST00000464456.1	37	c.2153G>A	CCDS54669.1	.	.	.	.	.	.	.	.	.	.	C	29.7	5.028087	0.93518	.	.	ENSG00000085276	ENST00000264674;ENST00000392736;ENST00000464456;ENST00000472280;ENST00000494292;ENST00000468789;ENST00000460814;ENST00000433243	T;T;T;T;T;T;T;T	0.07021	3.26;3.23;3.26;3.36;3.25;3.23;3.25;3.36	5.45	5.45	0.79879	.	0.095984	0.43747	D	0.000527	T	0.18676	0.0448	L	0.61218	1.895	0.80722	D	1	P;D;B;B;B	0.56521	0.647;0.976;0.367;0.178;0.258	B;P;B;B;B	0.48704	0.124;0.587;0.091;0.027;0.04	T	0.00194	-1.1933	10	0.62326	D	0.03	-9.2499	19.688	0.95987	0.0:1.0:0.0:0.0	.	915;719;906;792;727	Q03112-3;Q03112-6;E7EQ57;Q03112-4;Q03112	.;.;.;.;EVI1_HUMAN	Q	792;727;718;728;906;727;718;728	ENSP00000264674:R792Q;ENSP00000376493:R727Q;ENSP00000419770:R718Q;ENSP00000420048:R728Q;ENSP00000417899:R906Q;ENSP00000419995:R727Q;ENSP00000420466:R718Q;ENSP00000394302:R728Q	ENSP00000264674:R792Q	R	-	2	0	MECOM	170302569	1.000000	0.71417	1.000000	0.80357	0.802000	0.45316	7.434000	0.80377	2.730000	0.93505	0.655000	0.94253	CGG		0.502	MECOM-020	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000351519.1	NM_005241, NM_004991		27	49	0	0	0	1	0	27	49					T	168819875	C	T	168819875	3	4	241	1	0	0	0	0	1	0	0	0	9422	652	23	2	1003	2	MECOM	3	168819875	Missense_Mutation	SNP	C	TCGA-HC-A631-01A-11D-A29Q-08	21691082	168819875	29202555	15	11312											
ECE2	9718	broad.mit.edu	37	chr3	183994314	183994314	+	Intron	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttcgggatgaagacgcacccGagacccccgtagagggcggg	9	4	16	12	5	0	4	0	1	0	3	1	6	0	5	3	3	0	2	3	3	2	2	rs376213717		TCGA-HC-A631-01A-11D-A29Q-08	TCGA-HC-A631-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5949750-2444-4081-ad78-05d4614f4467	9e26e7c1-58ba-4e1d-b9bc-bdac163f4834	g.chr3:183994314G>A	ENST00000402825.3	+	3	480				EIF2B5_ENST00000444495.1_Intron|ECE2_ENST00000404464.3_Missense_Mutation_p.E29K|ECE2_ENST00000359140.4_Intron|ECE2_ENST00000357474.5_Missense_Mutation_p.E29K	NM_014693.3	NP_055508.3	O60344	ECE2_HUMAN	endothelin converting enzyme 2						brain development (GO:0007420)|cardioblast differentiation (GO:0010002)|cell-cell signaling (GO:0007267)|heart development (GO:0007507)|peptide hormone processing (GO:0016486)	cytoplasmic vesicle membrane (GO:0030659)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)|methyltransferase activity (GO:0008168)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(13)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(4)	49	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			AGACGCACCCGAGACCCCCGT	0.667																																						ENST00000404464.3																			0				breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(13)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(4)	49						c.(85-87)Gag>Aag		endothelin converting enzyme 2		G	,LYS/GLU,LYS/GLU,	1,3883		0,1,1941	17	21	20		,85,85,	3.8	0.9	3		20	0,8206		0,0,4103	no	intron,missense,missense,intron	ECE2	NM_001037324.2,NM_001100120.1,NM_001100121.1,NM_014693.3	,56,56,	0,1,6044	AA,AG,GG		0.0,0.0257,0.0083	,,,	,29/812,29/766,	183994314	1,12089	1942	4103	6045	SO:0001627	intron_variant	9718				brain development|cardioblast differentiation|cell-cell signaling|peptide hormone processing	cytoplasmic vesicle membrane|Golgi membrane|integral to membrane	metal ion binding|metalloendopeptidase activity|methyltransferase activity	g.chr3:183994314G>A	AF428263	CCDS3255.1, CCDS33899.1, CCDS3256.2, CCDS43179.1, CCDS46969.1	3q27.1	2007-07-26			ENSG00000145194	ENSG00000145194			13275	protein-coding gene	gene with protein product		610145				11718899	Standard	NM_032331		Approved	KIAA0604, MGC2408	uc003fni.4	O60344	OTTHUMG00000150551	ENST00000402825.3:c.481-366G>A	3.37:g.183994314G>A						ECE2_ENST00000402825.3_Intron|ECE2_ENST00000359140.4_Intron|EIF2B5_ENST00000444495.1_Intron|ECE2_ENST00000357474.5_Missense_Mutation_p.E29K	p.E29K	NM_001100120.1|NM_001100121.1	NP_001093590.1|NP_001093591.1	O60344	ECE2_HUMAN	Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		2	223	+	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		0			Methyltransferase-like region.		A5PLK8|Q6NTG7|Q6UW36|Q8NFD7|Q96NX3|Q96NX4|Q9BRZ8	Missense_Mutation	SNP	ENST00000402825.3	37	c.85G>A	CCDS3256.2	.	.	.	.	.	.	.	.	.	.	G	20.5	3.995391	0.74703	2.57E-4	0.0	ENSG00000145194	ENST00000404464;ENST00000357474	D;D	0.86562	-1.65;-2.14	3.76	3.76	0.43208	.	0.243031	0.36482	N	0.002563	D	0.82300	0.5007	N	0.19112	0.55	0.80722	D	1	D;P;P	0.61697	0.99;0.453;0.884	P;B;B	0.48488	0.579;0.072;0.245	D	0.85541	0.1215	10	0.72032	D	0.01	.	14.2998	0.66339	0.0:0.0:1.0:0.0	.	29;29;29	B7Z1P1;O60344-2;O60344-5	.;.;.	K	29	ENSP00000385846:E29K;ENSP00000350066:E29K	ENSP00000350066:E29K	E	+	1	0	ECE2	185477008	1.000000	0.71417	0.924000	0.36721	0.756000	0.42949	7.259000	0.78381	1.934000	0.56057	0.462000	0.41574	GAG		0.667	ECE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318874.3	NM_014693		16	33	0	0	0	1	0	16	33					A	183994314	G	A	183994314	1	1	241	0	1	0	0	0	0	0	0	0	4890	1059	37	2		2	ECE2	3	183994314	Intron	SNP	G	TCGA-HC-A631-01A-11D-A29Q-08	15174439	183994314	14028116	16	11313											
ECE2	9718	broad.mit.edu	37	chr3	183995186	183995186	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gaggaaccccctgcccgatgGgcgttctcgctggaacacct	7	7	12	15	3	1	0	0	0	1	0	2	4	1	2	4	3	3	2	4	3	2	1			TCGA-HC-A631-01A-11D-A29Q-08	TCGA-HC-A631-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5949750-2444-4081-ad78-05d4614f4467	9e26e7c1-58ba-4e1d-b9bc-bdac163f4834	g.chr3:183995186G>A	ENST00000402825.3	+	4	764	c.764G>A	c.(763-765)gGg>gAg	p.G255E	EIF2B5_ENST00000444495.1_Intron|ECE2_ENST00000404464.3_Missense_Mutation_p.G137E|ECE2_ENST00000359140.4_Missense_Mutation_p.G108E|ECE2_ENST00000357474.5_Missense_Mutation_p.G183E	NM_014693.3	NP_055508.3	O60344	ECE2_HUMAN	endothelin converting enzyme 2	255	Endothelin-converting enzyme 2 region.				brain development (GO:0007420)|cardioblast differentiation (GO:0010002)|cell-cell signaling (GO:0007267)|heart development (GO:0007507)|peptide hormone processing (GO:0016486)	cytoplasmic vesicle membrane (GO:0030659)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)|methyltransferase activity (GO:0008168)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(13)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(4)	49	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			CTGCCCGATGGGCGTTCTCGC	0.602																																						ENST00000402825.3																			0				breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(13)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(4)	49						c.(763-765)gGg>gAg		endothelin converting enzyme 2							52	52	52					3																	183995186		2203	4300	6503	SO:0001583	missense	9718				brain development|cardioblast differentiation|cell-cell signaling|peptide hormone processing	cytoplasmic vesicle membrane|Golgi membrane|integral to membrane	metal ion binding|metalloendopeptidase activity|methyltransferase activity	g.chr3:183995186G>A	AF428263	CCDS3255.1, CCDS33899.1, CCDS3256.2, CCDS43179.1, CCDS46969.1	3q27.1	2007-07-26			ENSG00000145194	ENSG00000145194			13275	protein-coding gene	gene with protein product		610145				11718899	Standard	NM_032331		Approved	KIAA0604, MGC2408	uc003fni.4	O60344	OTTHUMG00000150551	ENST00000402825.3:c.764G>A	3.37:g.183995186G>A	ENSP00000384223:p.Gly255Glu					ECE2_ENST00000404464.3_Missense_Mutation_p.G137E|ECE2_ENST00000359140.4_Missense_Mutation_p.G108E|EIF2B5_ENST00000444495.1_Intron|ECE2_ENST00000357474.5_Missense_Mutation_p.G183E	p.G255E	NM_014693.3	NP_055508.3	O60344	ECE2_HUMAN	Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		4	764	+	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		255			Endothelin-converting enzyme 2 region.		A5PLK8|Q6NTG7|Q6UW36|Q8NFD7|Q96NX3|Q96NX4|Q9BRZ8	Missense_Mutation	SNP	ENST00000402825.3	37	c.764G>A	CCDS3256.2	.	.	.	.	.	.	.	.	.	.	G	31	5.081090	0.94050	.	.	ENSG00000145194	ENST00000402825;ENST00000359140;ENST00000404464;ENST00000357474;ENST00000430587	T;T;T;T;T	0.73469	-0.75;-0.75;-0.75;-0.75;-0.75	5.97	5.97	0.96955	Peptidase M13 (1);	0.000000	0.85682	D	0.000000	D	0.84042	0.5385	L	0.58101	1.795	0.80722	D	1	D;D;P;D;D;D	0.89917	1.0;1.0;0.67;1.0;1.0;1.0	D;D;B;D;D;D	0.97110	1.0;1.0;0.1;1.0;1.0;1.0	T	0.79438	-0.1803	10	0.25751	T	0.34	-29.7669	18.9918	0.92796	0.0:0.0:1.0:0.0	.	108;183;137;183;108;255	B4DKF3;B7Z1P1;O60344-2;O60344-5;O60344-3;O60344	.;.;.;.;.;ECE2_HUMAN	E	255;108;137;183;129	ENSP00000384223:G255E;ENSP00000352052:G108E;ENSP00000385846:G137E;ENSP00000350066:G183E;ENSP00000398444:G129E	ENSP00000350066:G183E	G	+	2	0	ECE2	185477880	1.000000	0.71417	0.998000	0.56505	0.776000	0.43924	9.827000	0.99397	2.837000	0.97791	0.655000	0.94253	GGG		0.602	ECE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318874.3	NM_014693		27	54	0	0	0	1	0	27	54					A	183995186	G	A	183995186	3	1	241	1	0	0	0	0	1	0	0	0	4890	1232	43	3	1342	3	ECE2	3	183995186	Missense_Mutation	SNP	G	TCGA-HC-A631-01A-11D-A29Q-08	872	183995186	14027244	17	11314											
PITX2	5308	broad.mit.edu	37	chr4	111539631	111539631	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtgatgacagggggttgaCgttcatagagttgaagaagg	11	10	16	4	1	1	6	1	4	0	2	1	6	1	6	0	3	0	3	0	3	3	4			TCGA-HC-A631-01A-11D-A29Q-08	TCGA-HC-A631-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5949750-2444-4081-ad78-05d4614f4467	9e26e7c1-58ba-4e1d-b9bc-bdac163f4834	g.chr4:111539631C>T	ENST00000354925.2	-	7	2309	c.604G>A	c.(604-606)Gtc>Atc	p.V202I	PITX2_ENST00000394595.3_Missense_Mutation_p.R133H|PITX2_ENST00000355080.5_Missense_Mutation_p.V156I|PITX2_ENST00000306732.3_Missense_Mutation_p.V209I|PITX2_ENST00000394598.2_Missense_Mutation_p.V202I|PITX2_ENST00000556049.1_5'UTR	NM_001204397.1	NP_001191326.1	Q99697	PITX2_HUMAN	paired-like homeodomain 2	202					atrial cardiac muscle tissue morphogenesis (GO:0055009)|atrioventricular valve development (GO:0003171)|camera-type eye development (GO:0043010)|cardiac neural crest cell migration involved in outflow tract morphogenesis (GO:0003253)|cell proliferation involved in outflow tract morphogenesis (GO:0061325)|deltoid tuberosity development (GO:0035993)|determination of left/right symmetry (GO:0007368)|embryonic camera-type eye development (GO:0031076)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic hindlimb morphogenesis (GO:0035116)|endodermal digestive tract morphogenesis (GO:0061031)|extraocular skeletal muscle development (GO:0002074)|female gonad development (GO:0008585)|hair cell differentiation (GO:0035315)|hypothalamus cell migration (GO:0021855)|in utero embryonic development (GO:0001701)|iris morphogenesis (GO:0061072)|left lung morphogenesis (GO:0060460)|left/right axis specification (GO:0070986)|male gonad development (GO:0008584)|myoblast fusion (GO:0007520)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|odontogenesis (GO:0042476)|odontogenesis of dentin-containing tooth (GO:0042475)|patterning of blood vessels (GO:0001569)|positive regulation of DNA binding (GO:0043388)|positive regulation of myoblast proliferation (GO:2000288)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prolactin secreting cell differentiation (GO:0060127)|pulmonary myocardium development (GO:0003350)|pulmonary vein morphogenesis (GO:0060577)|regulation of cell migration (GO:0030334)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|response to hormone (GO:0009725)|response to vitamin A (GO:0033189)|somatotropin secreting cell differentiation (GO:0060126)|spleen development (GO:0048536)|subthalamic nucleus development (GO:0021763)|superior vena cava morphogenesis (GO:0060578)|vascular smooth muscle cell differentiation (GO:0035886)|vasculogenesis (GO:0001570)|ventricular cardiac muscle cell development (GO:0055015)|ventricular septum morphogenesis (GO:0060412)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin DNA binding (GO:0031490)|phosphoprotein binding (GO:0051219)|protein homodimerization activity (GO:0042803)|ribonucleoprotein complex binding (GO:0043021)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			breast(1)|endometrium(3)|large_intestine(1)|lung(5)	10		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00222)		AGGGGGTTGACGTTCATAGAG	0.557																																						ENST00000354925.2																			0				breast(1)|endometrium(3)|large_intestine(1)|lung(5)	10						c.(604-606)Gtc>Atc		paired-like homeodomain 2							89	78	82					4																	111539631		2203	4300	6503	SO:0001583	missense	5308				determination of left/right symmetry|organ morphogenesis	transcription factor complex	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding	g.chr4:111539631C>T	U69961	CCDS3692.1, CCDS3693.1, CCDS3694.1	4q25	2011-06-20	2007-07-12		ENSG00000164093	ENSG00000164093		"Homeoboxes / PRD class"	9005	protein-coding gene	gene with protein product		601542	"paired-like homeodomain transcription factor 2"	IRID2, IHG2, RIEG, RIEG1, RGS		9539779, 7581385	Standard	NM_000325		Approved	IGDS, RS, Brx1, Otlx2, ARP1	uc021xqr.1	Q99697	OTTHUMG00000132837	ENST00000354925.2:c.604G>A	4.37:g.111539631C>T	ENSP00000347004:p.Val202Ile					PITX2_ENST00000394595.3_Missense_Mutation_p.R133H|PITX2_ENST00000355080.5_Missense_Mutation_p.V156I|PITX2_ENST00000394598.2_Missense_Mutation_p.V202I|PITX2_ENST00000306732.3_Missense_Mutation_p.V209I|PITX2_ENST00000556049.1_5'UTR	p.V202I	NM_001204397.1	NP_001191326.1	Q99697	PITX2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.00222)	7	2309	-		Hepatocellular(203;0.217)	202					A8K6C6|B2RA02|B3KXS0|O60578|O60579|O60580|Q3KQX9|Q9BY17	Missense_Mutation	SNP	ENST00000354925.2	37	c.604G>A	CCDS3692.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.66|14.66	2.600576|2.600576	0.46423|0.46423	.|.	.|.	ENSG00000164093|ENSG00000164093	ENST00000394595|ENST00000306732;ENST00000394598;ENST00000355080;ENST00000354925;ENST00000511837;ENST00000556049	.|D;D;D;D;D;T	.|0.93547	.|-2.91;-3.04;-3.17;-3.04;-3.24;-0.89	5.25|5.25	5.25|5.25	0.73442|0.73442	.|.	.|0.169408	.|0.51477	.|D	.|0.000087	D|D	0.91838|0.91838	0.7417|0.7417	M|M	0.62088|0.62088	1.915|1.915	0.41819|0.41819	D|D	0.99001|0.99001	.|P;P;P;P	.|0.51653	.|0.686;0.947;0.879;0.701	.|B;B;B;B	.|0.39876	.|0.107;0.312;0.225;0.3	D|D	0.91849|0.91849	0.5490|0.5490	6|10	0.87932|0.39692	D|T	0|0.17	.|.	19.0324|19.0324	0.92963|0.92963	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|156;156;202;209	.|A8K6C6;Q99697-3;Q99697;Q99697-2	.|.;.;PITX2_HUMAN;.	H|I	133|209;202;156;202;202;126	.|ENSP00000304169:V209I;ENSP00000378097:V202I;ENSP00000347192:V156I;ENSP00000347004:V202I;ENSP00000421454:V202I;ENSP00000450938:V126I	ENSP00000378095:R133H|ENSP00000304169:V209I	R|V	-|-	2|1	0|0	PITX2|PITX2	111759080|111759080	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	5.932000|5.932000	0.70121|0.70121	2.737000|2.737000	0.93849|0.93849	0.563000|0.563000	0.77884|0.77884	CGT|GTC		0.557	PITX2-003	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256308.2			5	55	0	0	0	1	0	5	55					T	111539631	C	T	111539631	3	4	241	1	0	0	0	0	1	0	0	0	11955	536	19	1	353	1	PITX2	4	111539631	Missense_Mutation	SNP	C	TCGA-HC-A631-01A-11D-A29Q-08		111539631	79614645	18	11315											
PCDH18	54510	broad.mit.edu	37	chr4	138452262	138452262	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	attgaatttggacccaaatcTtgagcctgaacatcaatctc	13	12	6	10	0	3	3	1	3	2	0	4	4	3	4	2	1	2	0	2	1	4	3			TCGA-HC-A631-01A-11D-A29Q-08	TCGA-HC-A631-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5949750-2444-4081-ad78-05d4614f4467	9e26e7c1-58ba-4e1d-b9bc-bdac163f4834	g.chr4:138452262T>C	ENST00000344876.4	-	1	1367	c.981A>G	c.(979-981)caA>caG	p.Q327Q	PCDH18_ENST00000507846.1_Silent_p.Q107Q|PCDH18_ENST00000510305.1_Intron|PCDH18_ENST00000412923.2_Silent_p.Q327Q|PCDH18_ENST00000511115.1_Intron	NM_019035.3	NP_061908.1	Q9HCL0	PCD18_HUMAN	protocadherin 18	327	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				brain development (GO:0007420)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					GACCCAAATCTTGAGCCTGAA	0.353																																						ENST00000344876.4																			0				NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86						c.(979-981)caA>caG		protocadherin 18							30	33	32					4																	138452262		2189	4296	6485	SO:0001819	synonymous_variant	54510				brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:138452262T>C	AL137471	CCDS34064.1, CCDS75193.1	4q28.3	2010-01-26			ENSG00000189184	ENSG00000189184		"Cadherins / Protocadherins : Non-clustered"	14268	protein-coding gene	gene with protein product		608287				10835267, 11549318	Standard	XM_005263070		Approved	KIAA1562, PCDH68L	uc003ihe.4	Q9HCL0	OTTHUMG00000161348	ENST00000344876.4:c.981A>G	4.37:g.138452262T>C						PCDH18_ENST00000412923.2_Silent_p.Q327Q|PCDH18_ENST00000511115.1_Intron|PCDH18_ENST00000510305.1_Intron|PCDH18_ENST00000507846.1_Silent_p.Q107Q	p.Q327Q	NM_019035.3	NP_061908.1	Q9HCL0	PCD18_HUMAN			1	1367	-	all_hematologic(180;0.24)		327			Cadherin 3.		A8K7K3|B7ZKT1|Q52LS2	Silent	SNP	ENST00000344876.4	37	c.981A>G	CCDS34064.1																																																																																				0.353	PCDH18-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364614.1	NM_019035		14	21	0	0	0	1	0	14	21					C	138452262	T	C	138452262	2	2	241	1	0	0	0	0	0	0	0	1	11513	1606	56	4		4	PCDH18	4	138452262	Silent	SNP	T	TCGA-HC-A631-01A-11D-A29Q-08	26912631	138452262	52702014	19	11316											
CDH9	1007	broad.mit.edu	37	chr5	26885932	26885932	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agtaggtgctcattttgttgCgactgtagccatctttccga	7	15	10	9	2	2	0	1	0	1	0	3	2	3	0	2	1	3	4	2	1	2	6			TCGA-HC-A631-01A-11D-A29Q-08	TCGA-HC-A631-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5949750-2444-4081-ad78-05d4614f4467	9e26e7c1-58ba-4e1d-b9bc-bdac163f4834	g.chr5:26885932C>T	ENST00000231021.4	-	11	1845	c.1673G>A	c.(1672-1674)cGc>cAc	p.R558H		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	558	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						CATTTTGTTGCGACTGTAGCC	0.383																																					Melanoma(8;187 585 15745 40864 52829)	ENST00000231021.4																			0				breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						c.(1672-1674)cGc>cAc		cadherin 9, type 2 (T1-cadherin)							67	64	65					5																	26885932		2203	4300	6503	SO:0001583	missense	1007				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:26885932C>T	AB035302	CCDS3893.1	5p14	2010-01-26			ENSG00000113100	ENSG00000113100		"Cadherins / Major cadherins"	1768	protein-coding gene	gene with protein product		609974				2059658	Standard	NM_016279		Approved		uc003jgs.1	Q9ULB4	OTTHUMG00000090671	ENST00000231021.4:c.1673G>A	5.37:g.26885932C>T	ENSP00000231021:p.Arg558His						p.R558H	NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN			11	1845	-			558			Cadherin 5.		Q3B7I5	Missense_Mutation	SNP	ENST00000231021.4	37	c.1673G>A	CCDS3893.1	.	.	.	.	.	.	.	.	.	.	C	33	5.219895	0.95139	.	.	ENSG00000113100	ENST00000231021	T	0.60040	0.22	5.79	5.79	0.91817	Cadherin (4);Cadherin-like (1);	0.052610	0.85682	D	0.000000	D	0.83815	0.5336	H	0.95712	3.71	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.78314	0.973;0.991	D	0.88118	0.2830	9	.	.	.	.	18.5999	0.91246	0.0:1.0:0.0:0.0	.	151;558	B4DFP0;Q9ULB4	.;CADH9_HUMAN	H	558	ENSP00000231021:R558H	.	R	-	2	0	CDH9	26921689	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.931000	0.63469	2.740000	0.93945	0.563000	0.77884	CGC		0.383	CDH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207352.1	NM_016279		22	31	0	0	0	1	0	22	31					T	26885932	C	T	26885932	3	4	241	1	0	0	0	0	1	0	0	0	3117	768	27	1	704	1	CDH9	5	26885932	Missense_Mutation	SNP	C	TCGA-HC-A631-01A-11D-A29Q-08		26885932	154029328	20	11317											
VCAN	1462	broad.mit.edu	37	chr5	82815919	82815919	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actcatttagaagacttggaGtcagtctcagcatccacaac	13	10	7	11	0	3	2	3	0	1	2	5	3	4	3	1	1	2	1	1	1	3	3			TCGA-HC-A631-01A-11D-A29Q-08	TCGA-HC-A631-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5949750-2444-4081-ad78-05d4614f4467	9e26e7c1-58ba-4e1d-b9bc-bdac163f4834	g.chr5:82815919G>A	ENST00000265077.3	+	7	2359	c.1794G>A	c.(1792-1794)gaG>gaA	p.E598E	VCAN_ENST00000343200.5_Intron|VCAN_ENST00000502527.2_Intron|VCAN_ENST00000512590.2_Silent_p.E550E|VCAN_ENST00000342785.4_Silent_p.E598E	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	598	GAG-alpha (glucosaminoglycan attachment domain).				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|cell recognition (GO:0008037)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|heart development (GO:0007507)|multicellular organismal development (GO:0007275)|osteoblast differentiation (GO:0001649)|small molecule metabolic process (GO:0044281)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|glycosaminoglycan binding (GO:0005539)|hyaluronic acid binding (GO:0005540)			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	Hyaluronan(DB08818)	AAGACTTGGAGTCAGTCTCAG	0.418																																						ENST00000265077.3																			0				NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190						c.(1792-1794)gaG>gaA		versican							124	124	124					5																	82815919		2203	4300	6503	SO:0001819	synonymous_variant	1462				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding	g.chr5:82815919G>A	X15998	CCDS4060.1, CCDS47242.1, CCDS54875.1, CCDS54876.1	5q14.2-q14.3	2013-05-07	2007-02-15	2007-02-15	ENSG00000038427	ENSG00000038427		"Immunoglobulin superfamily / V-set domain containing", "Proteoglycans / Extracellular Matrix : Hyalectans"	2464	protein-coding gene	gene with protein product	"versican proteoglycan"	118661	"chondroitin sulfate proteoglycan 2"	CSPG2		1478664, 21063030	Standard	NM_004385		Approved	PG-M	uc003kii.3	P13611	OTTHUMG00000131321	ENST00000265077.3:c.1794G>A	5.37:g.82815919G>A						VCAN_ENST00000502527.2_Intron|VCAN_ENST00000342785.4_Silent_p.E598E|VCAN_ENST00000343200.5_Intron|VCAN_ENST00000512590.2_Silent_p.E550E	p.E598E	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	7	2359	+		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)	598			GAG-alpha (glucosaminoglycan attachment domain).		P20754|Q13010|Q13189|Q15123|Q9UCL9|Q9UNW5	Silent	SNP	ENST00000265077.3	37	c.1794G>A	CCDS4060.1																																																																																				0.418	VCAN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254092.3	NM_004385		62	62	0	0	0	1	0	62	62					A	82815919	G	A	82815919	2	1	241	1	0	0	0	0	0	0	0	1	17135	1020	36	3		3	VCAN	5	82815919	Silent	SNP	G	TCGA-HC-A631-01A-11D-A29Q-08	55929987	82815919	98099341	21	11318											
SLCO6A1	133482	broad.mit.edu	37	chr5	101709139	101709139	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agtgttctcatttagacgacGtttgtatatgaaaaatgcaa	14	14	8	5	2	1	2	1	1	1	1	2	3	1	2	0	0	1	4	0	0	6	6	rs567010617	byFrequency	TCGA-HC-A631-01A-11D-A29Q-08	TCGA-HC-A631-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5949750-2444-4081-ad78-05d4614f4467	9e26e7c1-58ba-4e1d-b9bc-bdac163f4834	g.chr5:101709139G>A	ENST00000506729.1	-	13	2248	c.2077C>T	c.(2077-2079)Cgt>Tgt	p.R693C	SLCO6A1_ENST00000513675.1_Missense_Mutation_p.R440C|SLCO6A1_ENST00000379810.1_Missense_Mutation_p.R440C|SLCO6A1_ENST00000389019.3_Missense_Mutation_p.R631C|SLCO6A1_ENST00000379807.3_Missense_Mutation_p.R693C			Q86UG4	SO6A1_HUMAN	solute carrier organic anion transporter family, member 6A1	693						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(17)|lung(22)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	60		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)		TTTAGACGACGTTTGTATATG	0.318													G|||	7	0.00139776	0	0	5008	,	,		12671	0		0	False		,,,				2504	0.0072					ENST00000506729.1																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(17)|lung(22)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						c.(2077-2079)Cgt>Tgt		solute carrier organic anion transporter family, member 6A1							147	146	147					5																	101709139		2203	4296	6499	SO:0001583	missense	133482					integral to membrane|plasma membrane	transporter activity	g.chr5:101709139G>A	AF505657	CCDS34206.1, CCDS75282.1	5q21.2	2013-05-22			ENSG00000205359	ENSG00000205359		"Solute carriers"	23613	protein-coding gene	gene with protein product	"cancer/testis antigen 48"	613365					Standard	XM_005271874		Approved	OATP6A1, OATPY, MGC26949, CT48	uc003knp.3	Q86UG4	OTTHUMG00000162759	ENST00000506729.1:c.2077C>T	5.37:g.101709139G>A	ENSP00000421339:p.Arg693Cys					SLCO6A1_ENST00000389019.3_Missense_Mutation_p.R631C|SLCO6A1_ENST00000379807.3_Missense_Mutation_p.R693C|SLCO6A1_ENST00000379810.1_Missense_Mutation_p.R440C|SLCO6A1_ENST00000513675.1_Missense_Mutation_p.R440C	p.R693C			Q86UG4	SO6A1_HUMAN		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)	13	2248	-		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)	693					A6NHC1|Q6ZMY5|Q86UV2|Q8IYU5	Missense_Mutation	SNP	ENST00000506729.1	37	c.2077C>T	CCDS34206.1	.	.	.	.	.	.	.	.	.	.	G	5.593	0.294275	0.10567	.	.	ENSG00000205359	ENST00000506729;ENST00000379807;ENST00000389019;ENST00000513675;ENST00000379810	T;T;T;T;T	0.49720	0.8;0.8;0.86;0.77;0.77	3.34	-2.53	0.06326	Major facilitator superfamily domain, general substrate transporter (1);	2.931640	0.00963	N	0.003132	T	0.24661	0.0598	N	0.08118	0	0.09310	N	1	B;B;B	0.16166	0.0;0.016;0.0	B;B;B	0.09377	0.0;0.004;0.0	T	0.10086	-1.0645	10	0.49607	T	0.09	.	1.1457	0.01775	0.2675:0.1674:0.3966:0.1686	.	631;440;693	Q86UG4-2;C9J020;Q86UG4	.;.;SO6A1_HUMAN	C	693;693;631;440;440	ENSP00000421339:R693C;ENSP00000369135:R693C;ENSP00000373671:R631C;ENSP00000421990:R440C;ENSP00000369138:R440C	ENSP00000369135:R693C	R	-	1	0	SLCO6A1	101737038	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-2.696000	0.00827	-0.606000	0.05746	0.650000	0.86243	CGT		0.318	SLCO6A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370335.1	NM_173488		7	35	0	0	0	1	0	7	35					A	101709139	G	A	101709139	3	1	241	1	0	0	0	0	1	0	0	0	14732	1145	40	1	86	1	SLCO6A1	5	101709139	Missense_Mutation	SNP	G	TCGA-HC-A631-01A-11D-A29Q-08	18893220	101709139	79206121	22	11319											
CCNJL	79616	broad.mit.edu	37	chr5	159680553	159680553	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ggctgcagcggttggtacggGgtgtggagggatgagcctgt	5	9	21	6	2	0	1	0	1	0	0	0	3	0	3	1	7	4	4	1	7	1	2			TCGA-HC-A631-01A-11D-A29Q-08	TCGA-HC-A631-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5949750-2444-4081-ad78-05d4614f4467	9e26e7c1-58ba-4e1d-b9bc-bdac163f4834	g.chr5:159680553G>A	ENST00000393977.3	-	7	1425	c.1140C>T	c.(1138-1140)acC>acT	p.T380T	CCNJL_ENST00000257536.7_Silent_p.T332T|CCNJL_ENST00000377503.2_5'UTR	NM_024565.5	NP_078841.3	Q8IV13	CCNJL_HUMAN	cyclin J-like	380						nucleus (GO:0005634)				endometrium(2)|kidney(5)|large_intestine(2)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	17	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.116)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GTTGGTACGGGGTGTGGAGGG	0.632																																						ENST00000393977.3																			0				endometrium(2)|kidney(5)|large_intestine(2)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	17						c.(1138-1140)acC>acT		cyclin J-like							71	79	76					5																	159680553		2116	4240	6356	SO:0001819	synonymous_variant	79616					nucleus		g.chr5:159680553G>A	BC013353	CCDS4350.2	5q33.3	2008-10-31			ENSG00000135083	ENSG00000135083			25876	protein-coding gene	gene with protein product						12477932	Standard	XM_005265982		Approved	FLJ14166	uc003lyb.1	Q8IV13	OTTHUMG00000130325	ENST00000393977.3:c.1140C>T	5.37:g.159680553G>A						CCNJL_ENST00000377503.2_5'UTR|CCNJL_ENST00000257536.7_Silent_p.T332T	p.T380T	NM_024565.5	NP_078841.3	Q8IV13	CCNJL_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		7	1425	-	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.116)	380					Q6ZN43|Q9H7W8	Silent	SNP	ENST00000393977.3	37	c.1140C>T	CCDS4350.2																																																																																				0.632	CCNJL-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252674.1	NM_024565		33	54	0	0	0	1	0	33	54					A	159680553	G	A	159680553	2	1	241	1	0	0	0	0	0	0	0	1	2929	1219	43	3		3	CCNJL	5	159680553	Silent	SNP	G	TCGA-HC-A631-01A-11D-A29Q-08	57971414	159680553	21234707	23	11320											
TFAP2B	7021	broad.mit.edu	37	chr6	50810837	50810837	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaatttacggatctactggCgcaggaccggacaccgatag	12	7	12	10	4	1	1	0	0	1	1	1	5	1	4	2	4	2	1	2	4	4	4			TCGA-HC-A631-01A-11D-A29Q-08	TCGA-HC-A631-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5949750-2444-4081-ad78-05d4614f4467	9e26e7c1-58ba-4e1d-b9bc-bdac163f4834	g.chr6:50810837C>T	ENST00000393655.3	+	7	1284	c.1115C>T	c.(1114-1116)gCg>gTg	p.A372V	TFAP2B_ENST00000263046.4_Missense_Mutation_p.A381V	NM_003221.3	NP_003212.2	Q92481	AP2B_HUMAN	transcription factor AP-2 beta (activating enhancer binding protein 2 beta)	372				QLCKEFTDLLAQDRTPIGNSRPSPILEPGIQSCLTHFSLIT HGFGAPAICAALTALQNYLTEALKGMDKMFLNNTTTNRHTS GEGPGSKTGDKEEKHRK -> GNFVKNLRIYWRRTGHR (in Ref. 1; CAA71047). {ECO:0000305}.	aorta morphogenesis (GO:0035909)|calcium ion homeostasis (GO:0055074)|cellular ammonia homeostasis (GO:0097275)|cellular creatinine homeostasis (GO:0097276)|cellular urea homeostasis (GO:0097277)|collecting duct development (GO:0072044)|distal tubule development (GO:0072017)|ductus arteriosus closure (GO:0097070)|fat cell differentiation (GO:0045444)|forelimb morphogenesis (GO:0035136)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|hindlimb morphogenesis (GO:0035137)|kidney development (GO:0001822)|magnesium ion homeostasis (GO:0010960)|metanephric nephron development (GO:0072210)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|phosphate ion homeostasis (GO:0055062)|positive regulation of cell proliferation (GO:0008284)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of urine volume (GO:0035810)|potassium ion homeostasis (GO:0055075)|regulation of BMP signaling pathway (GO:0030510)|regulation of cell differentiation (GO:0045595)|regulation of insulin secretion (GO:0050796)|regulation of transcription, DNA-templated (GO:0006355)|renal water homeostasis (GO:0003091)|response to drug (GO:0042493)|response to lithium ion (GO:0010226)|retina layer formation (GO:0010842)|skin development (GO:0043588)|sodium ion homeostasis (GO:0055078)|sympathetic nervous system development (GO:0048485)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|DNA binding (GO:0003677)|enhancer sequence-specific DNA binding (GO:0001158)|protein dimerization activity (GO:0046983)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity (GO:0000983)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)	40	Lung NSC(77;0.156)					GATCTACTGGCGCAGGACCGG	0.567																																					Pancreas(116;1373 2332 5475 10752)	ENST00000263046.4																			0				NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)	40						c.(1141-1143)gCg>gTg		transcription factor AP-2 beta (activating enhancer binding protein 2 beta)							88	94	92					6																	50810837		2203	4300	6503	SO:0001583	missense	7021				nervous system development|positive regulation of transcription from RNA polymerase II promoter		protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chr6:50810837C>T	X95694	CCDS4934.2	6p12	2008-02-05	2001-11-28		ENSG00000008196	ENSG00000008196			11743	protein-coding gene	gene with protein product		601601	"transcription factor AP-2 beta (activating enhancer-binding protein 2 beta)"			7555706, 8661133	Standard	NM_003221		Approved	AP2-B	uc003pag.3	Q92481	OTTHUMG00000014836	ENST00000393655.3:c.1115C>T	6.37:g.50810837C>T	ENSP00000377265:p.Ala372Val					TFAP2B_ENST00000393655.3_Missense_Mutation_p.A372V	p.A381V			Q92481	AP2B_HUMAN			8	1308	+	Lung NSC(77;0.156)		372	QLCKEFTDLLAQDRTPIGNSRPSPILEPGIQSCLTHFSLIT HGFGAPAICAALTALQNYLTEALKGMDKMFLNNTTTNRHTS GEGPGSKTGDKEEKHRK -> GNFVKNLRIYWRRTGHR (in Ref. 1; CAA71047).				Q5JYX6|Q9NQ63|Q9NU99|Q9UJI7|Q9Y214|Q9Y3K3	Missense_Mutation	SNP	ENST00000393655.3	37	c.1142C>T	CCDS4934.2	.	.	.	.	.	.	.	.	.	.	C	24.7	4.562086	0.86335	.	.	ENSG00000008196	ENST00000393655;ENST00000263046	D;D	0.96940	-4.18;-4.18	4.79	4.79	0.61399	Transcription factor AP-2, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.92731	0.7689	M	0.62723	1.935	0.80722	D	1	P	0.48016	0.904	B	0.34991	0.193	D	0.94112	0.7372	10	0.72032	D	0.01	-12.2286	17.8403	0.88713	0.0:1.0:0.0:0.0	.	372	Q92481	AP2B_HUMAN	V	372;381	ENSP00000377265:A372V;ENSP00000263046:A381V	ENSP00000263046:A381V	A	+	2	0	TFAP2B	50918796	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.818000	0.86416	2.214000	0.71695	0.655000	0.94253	GCG		0.567	TFAP2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040886.3	NM_003221		7	235	0	0	0	1	0	7	235					T	50810837	C	T	50810837	3	4	241	1	0	0	0	0	1	0	0	0	15785	768	27	1	1141	1	TFAP2B	6	50810837	Missense_Mutation	SNP	C	TCGA-HC-A631-01A-11D-A29Q-08		50810837	120304230	24	11321											
PKHD1	5314	broad.mit.edu	37	chr6	51484229	51484229	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcctcttcctctcggacaaTgtggcggctaactttccttc	6	13	8	14	2	2	0	0	0	2	0	6	1	4	1	3	3	2	1	3	3	2	4			TCGA-HC-A631-01A-11D-A29Q-08	TCGA-HC-A631-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5949750-2444-4081-ad78-05d4614f4467	9e26e7c1-58ba-4e1d-b9bc-bdac163f4834	g.chr6:51484229T>C	ENST00000371117.3	-	67	12150	c.11875A>G	c.(11875-11877)Att>Gtt	p.I3959V	RP3-335N17.2_ENST00000454361.1_RNA|RP3-335N17.2_ENST00000587000.1_RNA|RP3-335N17.2_ENST00000589278.2_RNA	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	3959					cellular calcium ion homeostasis (GO:0006874)|cilium assembly (GO:0042384)|homeostatic process (GO:0042592)|kidney development (GO:0001822)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular component movement (GO:0051271)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of cell proliferation (GO:0008284)|regulation of centrosome duplication (GO:0010824)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of TOR signaling (GO:0032006)|single organismal cell-cell adhesion (GO:0016337)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|primary cilium (GO:0072372)	receptor activity (GO:0004872)			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					TCTCGGACAATGTGGCGGCTA	0.552																																						ENST00000371117.3																			0				NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304						c.(11875-11877)Att>Gtt		polycystic kidney and hepatic disease 1 (autosomal recessive)							104	96	99					6																	51484229		2203	4300	6503	SO:0001583	missense	5314				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity	g.chr6:51484229T>C	AF480064	CCDS4935.1, CCDS4936.1	6p21.2-p12	2012-11-26	2003-04-16		ENSG00000170927	ENSG00000170927			9016	protein-coding gene	gene with protein product	"tigmin", "polyductin", "fibrocystin"	606702	"TIG multiple domains 1"	TIGM1		9503014	Standard	NM_138694		Approved	ARPKD, FCYT	uc003pah.1	P08F94	OTTHUMG00000014841	ENST00000371117.3:c.11875A>G	6.37:g.51484229T>C	ENSP00000360158:p.Ile3959Val					RP3-335N17.2_ENST00000589278.1_RNA|RP3-335N17.2_ENST00000454361.1_RNA	p.I3959V	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN			67	12150	-	Lung NSC(77;0.0605)		3959					Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Missense_Mutation	SNP	ENST00000371117.3	37	c.11875A>G	CCDS4935.1	.	.	.	.	.	.	.	.	.	.	T	0.124	-1.121806	0.01785	.	.	ENSG00000170927	ENST00000371117	D	0.85088	-1.94	5.53	-8.57	0.00900	.	1.722310	0.02890	N	0.134077	T	0.23611	0.0571	N	0.01352	-0.895	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.35025	-0.9805	10	0.02654	T	1	.	2.868	0.05608	0.2026:0.1797:0.0999:0.5179	.	3959	P08F94	PKHD1_HUMAN	V	3959	ENSP00000360158:I3959V	ENSP00000360158:I3959V	I	-	1	0	PKHD1	51592188	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.790000	0.04604	-2.270000	0.00683	-2.325000	0.00251	ATT		0.552	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040893.1	NM_138694		77	71	0	0	0	1	0	77	71					C	51484229	T	C	51484229	3	2	241	1	0	0	0	0	1	0	0	0	11971	1464	51	4	353	4	PKHD1	6	51484229	Missense_Mutation	SNP	T	TCGA-HC-A631-01A-11D-A29Q-08	673392	51484229	119630838	25	11322											
TRDN	10345	broad.mit.edu	37	chr6	123600201	123600201	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgagcatgcatataacatacGtggaggtttaggcttgactt	11	13	11	6	1	0	2	0	2	0	0	0	3	0	3	0	3	4	4	0	3	4	7			TCGA-HC-A631-01A-11D-A29Q-08	TCGA-HC-A631-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5949750-2444-4081-ad78-05d4614f4467	9e26e7c1-58ba-4e1d-b9bc-bdac163f4834	g.chr6:123600201G>A	ENST00000398178.3	-	25	1558	c.1537C>T	c.(1537-1539)Caa>Taa	p.Q513*	TRDN_ENST00000334268.4_Splice_Site_p.Q513*	NM_006073.3	NP_006064.2	Q13061	TRDN_HUMAN	triadin	513					cellular calcium ion homeostasis (GO:0006874)|cytoplasmic microtubule organization (GO:0031122)|endoplasmic reticulum membrane organization (GO:0090158)|heart contraction (GO:0060047)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|myotube differentiation (GO:0014902)|negative regulation of ryanodine-sensitive calcium-release channel activity (GO:0060315)|positive regulation of cell communication by electrical coupling involved in cardiac conduction (GO:1901846)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cell communication by electrical coupling (GO:0010649)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to organic cyclic compound (GO:0014070)|transmembrane transport (GO:0055085)	calcium channel complex (GO:0034704)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum lumen (GO:0033018)|sarcoplasmic reticulum membrane (GO:0033017)	ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|protein homodimerization activity (GO:0042803)			NS(1)|endometrium(1)|kidney(1)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	41				GBM - Glioblastoma multiforme(226;0.184)		TATAACATACGTGGAGGTTTA	0.269																																						ENST00000334268.4																			0				NS(1)|endometrium(1)|kidney(1)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	41						c.e25+1		triadin							194	178	183					6																	123600201		1818	4076	5894	SO:0001630	splice_region_variant	10345				muscle contraction	integral to membrane|plasma membrane|sarcoplasmic reticulum membrane	receptor binding	g.chr6:123600201G>A	U18985	CCDS59035.1, CCDS75511.1	6q22.31	2008-05-15			ENSG00000186439	ENSG00000186439			12261	protein-coding gene	gene with protein product		603283				7588753	Standard	NM_001251987		Approved		uc003pzj.2	Q13061	OTTHUMG00000015497	ENST00000398178.3:c.1537+1C>T	6.37:g.123600201G>A						TRDN_ENST00000398178.3_Splice_Site_p.Q513_splice	p.Q513_splice			Q13061	TRDN_HUMAN		GBM - Glioblastoma multiforme(226;0.184)	25	1854	-			513					A5D6W5|F5H2W7|Q6NSB8	Splice_Site	SNP	ENST00000398178.3	37	c.1537_splice	CCDS55053.1	.	.	.	.	.	.	.	.	.	.	G	37	6.044985	0.97231	.	.	ENSG00000186439	ENST00000398178;ENST00000398161;ENST00000334268	.	.	.	4.35	4.35	0.52113	.	0.520454	0.16040	N	0.232441	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.3369	12.6867	0.56952	0.0:0.0:1.0:0.0	.	.	.	.	X	513;515;513	.	.	Q	-	1	0	TRDN	123641900	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	4.095000	0.57728	2.723000	0.93209	0.655000	0.94253	CAA		0.269	TRDN-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding			Nonsense_Mutation	9	20	0	0	0	1	0	9	20					A	123600201	G	A	123600201	5	1	241	1	0	0	0	0	0	0	1	0	16465	1159	40	1	720	1	TRDN	6	123600201	Splice_Site	SNP	G	TCGA-HC-A631-01A-11D-A29Q-08	72115972	123600201	47514866	26	11323											
TAS2R4	50832	broad.mit.edu	37	chr7	141478836	141478836	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttagtggtttctttggtctTgagctcatctctccagttca	5	19	8	9	0	5	1	2	1	3	0	7	1	6	1	1	2	1	3	1	2	1	6			TCGA-HC-A631-01A-11D-A29Q-08	TCGA-HC-A631-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5949750-2444-4081-ad78-05d4614f4467	9e26e7c1-58ba-4e1d-b9bc-bdac163f4834	g.chr7:141478836T>G	ENST00000247881.2	+	1	595	c.548T>G	c.(547-549)tTg>tGg	p.L183W	SSBP1_ENST00000465582.1_Intron	NM_016944.1	NP_058640.1	Q9NYW5	TA2R4_HUMAN	taste receptor, type 2, member 4	183					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|respiratory gaseous exchange (GO:0007585)|sensory perception of taste (GO:0050909)|signal transduction (GO:0007165)	cilium (GO:0005929)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)|taste receptor activity (GO:0008527)			endometrium(1)|large_intestine(4)|lung(2)	7	Melanoma(164;0.0171)			BRCA - Breast invasive adenocarcinoma(188;0.196)		TCTTTGGTCTTGAGCTCATCT	0.408																																						ENST00000247881.2																			0				endometrium(1)|large_intestine(4)|lung(2)	7						c.(547-549)tTg>tGg		taste receptor, type 2, member 4							228	227	227					7																	141478836		2203	4300	6503	SO:0001583	missense	50832				sensory perception of taste	cilium membrane	taste receptor activity	g.chr7:141478836T>G	AF227131	CCDS5868.1	7q31.3-q32	2012-08-22			ENSG00000127364	ENSG00000127364		"Taste receptors / Type 2", "GPCR / Unclassified : Taste receptors"	14911	protein-coding gene	gene with protein product		604869				10761934, 10761935	Standard	NM_016944		Approved	T2R4	uc003vwq.1	Q9NYW5	OTTHUMG00000157634	ENST00000247881.2:c.548T>G	7.37:g.141478836T>G	ENSP00000247881:p.Leu183Trp					SSBP1_ENST00000465582.1_Intron	p.L183W	NM_016944.1	NP_058640.1	Q9NYW5	TA2R4_HUMAN		BRCA - Breast invasive adenocarcinoma(188;0.196)	1	595	+	Melanoma(164;0.0171)		183					Q645W5|Q75MV8	Missense_Mutation	SNP	ENST00000247881.2	37	c.548T>G	CCDS5868.1	.	.	.	.	.	.	.	.	.	.	t	13.12	2.140897	0.37825	.	.	ENSG00000127364	ENST00000247881	T	0.44881	0.91	5.31	2.96	0.34315	.	0.534639	0.18231	N	0.147574	T	0.59376	0.2189	M	0.75884	2.315	0.09310	N	1	D	0.71674	0.998	D	0.70227	0.968	T	0.49952	-0.8884	10	0.87932	D	0	.	8.1587	0.31185	0.0:0.1632:0.0:0.8368	.	183	Q9NYW5	TA2R4_HUMAN	W	183	ENSP00000247881:L183W	ENSP00000247881:L183W	L	+	2	0	TAS2R4	141125305	0.000000	0.05858	0.016000	0.15963	0.483000	0.33249	0.653000	0.24902	0.489000	0.27749	0.515000	0.50301	TTG		0.408	TAS2R4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349285.1			86	137	0	0	0	1	0	86	137					G	141478836	T	G	141478836	3	3	241	1	0	0	0	0	1	0	0	0	15574	1821	63	5	550	5	TAS2R4	7	141478836	Missense_Mutation	SNP	T	TCGA-HC-A631-01A-11D-A29Q-08		141478836	17659827	27	11324											
TACC1	6867	broad.mit.edu	37	chr8	38699927	38699927	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tttctgatctcttcaggagaTatgagaacctgaaaggtgtt	11	14	10	6	0	3	4	1	3	2	2	4	6	3	4	1	2	1	1	1	2	3	4			TCGA-HC-A631-01A-11D-A29Q-08	TCGA-HC-A631-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5949750-2444-4081-ad78-05d4614f4467	9e26e7c1-58ba-4e1d-b9bc-bdac163f4834	g.chr8:38699927T>G	ENST00000317827.4	+	10	2462	c.2083T>G	c.(2083-2085)Tat>Gat	p.Y695D	TACC1_ENST00000443286.2_Missense_Mutation_p.Y682D|TACC1_ENST00000520611.1_Missense_Mutation_p.Y132D|TACC1_ENST00000330691.6_Missense_Mutation_p.Y269D|TACC1_ENST00000379931.3_Missense_Mutation_p.Y707D|TACC1_ENST00000276520.8_Missense_Mutation_p.Y285D|TACC1_ENST00000519416.1_Missense_Mutation_p.Y499D|TACC1_ENST00000518415.1_Missense_Mutation_p.Y621D|TACC1_ENST00000348567.4_Missense_Mutation_p.Y257D|RP11-723D22.3_ENST00000459965.2_RNA|TACC1_ENST00000520973.1_Missense_Mutation_p.Y471D|TACC1_ENST00000520615.1_Missense_Mutation_p.Y500D	NM_006283.2	NP_006274.2	O75410	TACC1_HUMAN	transforming, acidic coiled-coil containing protein 1	695					cell cycle (GO:0007049)|cell division (GO:0051301)|cerebral cortex development (GO:0021987)|interkinetic nuclear migration (GO:0022027)|microtubule cytoskeleton organization (GO:0000226)|neurogenesis (GO:0022008)|regulation of microtubule-based process (GO:0032886)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)				breast(4)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(3)	17		all_lung(54;0.00292)|Lung NSC(58;0.0115)|Hepatocellular(245;0.065)	LUSC - Lung squamous cell carcinoma(45;1.7e-09)|COAD - Colon adenocarcinoma(9;0.235)			CTTCAGGAGATATGAGAACCT	0.473																																						ENST00000379931.3																			0				breast(4)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(3)	17						c.(2119-2121)Tat>Gat		transforming, acidic coiled-coil containing protein 1							118	121	120					8																	38699927		2203	4300	6503	SO:0001583	missense	6867				cell cycle|cell division	intermediate filament cytoskeleton|microtubule organizing center|nucleus	protein binding	g.chr8:38699927T>G	AF049910	CCDS6109.1, CCDS47845.1, CCDS55224.1	8p11	2012-12-20			ENSG00000147526	ENSG00000147526			11522	protein-coding gene	gene with protein product		605301					Standard	NM_006283		Approved		uc010lwp.3	O75410	OTTHUMG00000164018	ENST00000317827.4:c.2083T>G	8.37:g.38699927T>G	ENSP00000321703:p.Tyr695Asp					TACC1_ENST00000348567.4_Missense_Mutation_p.Y257D|TACC1_ENST00000330691.6_Missense_Mutation_p.Y269D|TACC1_ENST00000518415.1_Missense_Mutation_p.Y621D|TACC1_ENST00000520615.1_Missense_Mutation_p.Y500D|TACC1_ENST00000317827.4_Missense_Mutation_p.Y695D|TACC1_ENST00000520973.1_Missense_Mutation_p.Y471D|TACC1_ENST00000520611.1_Missense_Mutation_p.Y132D|TACC1_ENST00000519416.1_Missense_Mutation_p.Y499D|TACC1_ENST00000443286.2_Missense_Mutation_p.Y682D|TACC1_ENST00000276520.8_Missense_Mutation_p.Y285D	p.Y707D			O75410	TACC1_HUMAN	LUSC - Lung squamous cell carcinoma(45;1.7e-09)|COAD - Colon adenocarcinoma(9;0.235)		11	2498	+		all_lung(54;0.00292)|Lung NSC(58;0.0115)|Hepatocellular(245;0.065)	695			Interaction with CH-TOG.		B2RBD9|D3DSX6|Q6Y687|Q86YG7|Q8IUJ2|Q8IUJ3|Q8IUJ4|Q8IZG2|Q8NEY7|Q9UPP9	Missense_Mutation	SNP	ENST00000317827.4	37	c.2119T>G	CCDS6109.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	13.90|13.90	2.374127|2.374127	0.42105|0.42105	.|.	.|.	ENSG00000147526|ENSG00000147526	ENST00000521866;ENST00000518809|ENST00000519416;ENST00000520615;ENST00000443286;ENST00000518415;ENST00000330691;ENST00000348567;ENST00000317827;ENST00000379931;ENST00000276520;ENST00000520973;ENST00000520611	.|T;T;T;T;T;T;T;T;T;T;T	.|0.49432	.|0.78;0.78;0.78;0.78;0.78;0.78;0.78;0.78;0.78;0.78;0.78	5.24|5.24	4.07|4.07	0.47477|0.47477	.|.	.|0.076409	.|0.53938	.|D	.|0.000043	T|T	0.68174|0.68174	0.2972|0.2972	M|M	0.81112|0.81112	2.525|2.525	0.58432|0.58432	D|D	0.999999|0.999999	.|D;D;D;D;D;D;D;D	.|0.89917	.|0.999;1.0;0.987;1.0;0.999;1.0;0.999;1.0	.|D;D;P;D;D;D;D;D	.|0.97110	.|0.999;1.0;0.889;1.0;0.999;0.992;0.991;1.0	T|T	0.71087|0.71087	-0.4694|-0.4694	5|10	.|0.87932	.|D	.|0	-8.6315|-8.6315	11.5181|11.5181	0.50534|0.50534	0.1343:0.0:0.0:0.8657|0.1343:0.0:0.0:0.8657	.|.	.|471;471;682;707;695;285;499;621	.|E7EVI4;B4DH49;B4E302;O75410-2;O75410;O75410-6;E7ET87;O75410-7	.|.;.;.;.;TACC1_HUMAN;.;.;.	E|D	451;343|499;500;682;621;269;257;695;707;285;471;132	.|ENSP00000428687:Y499D;ENSP00000428450:Y500D;ENSP00000393647:Y682D;ENSP00000428706:Y621D;ENSP00000332794:Y269D;ENSP00000327818:Y257D;ENSP00000321703:Y695D;ENSP00000369263:Y707D;ENSP00000276520:Y285D;ENSP00000430959:Y471D;ENSP00000429418:Y132D	.|ENSP00000276520:Y285D	D|Y	+|+	3|1	2|0	TACC1|TACC1	38819084|38819084	1.000000|1.000000	0.71417|0.71417	0.406000|0.406000	0.26421|0.26421	0.003000|0.003000	0.03518|0.03518	8.040000|8.040000	0.89188|0.89188	0.813000|0.813000	0.34350|0.34350	-0.327000|-0.327000	0.08410|0.08410	GAT|TAT		0.473	TACC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000376768.1	NM_006283		37	50	0	0	0	1	0	37	50					G	38699927	T	G	38699927	3	3	241	1	0	0	0	0	1	0	0	0	15498	1406	49	5	2121	5	TACC1	8	38699927	Missense_Mutation	SNP	T	TCGA-HC-A631-01A-11D-A29Q-08		38699927	107664095	28	11325											
PTPRD	5789	broad.mit.edu	37	chr9	8484295	8484295	+	Frame_Shift_Del	DEL	T	T	-																															gtcagcacaaatgaatatgaTttctcaggcttcaggttgac																										TCGA-HC-A631-01A-11D-A29Q-08	TCGA-HC-A631-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5949750-2444-4081-ad78-05d4614f4467	9e26e7c1-58ba-4e1d-b9bc-bdac163f4834	g.chr9:8484295delT	ENST00000381196.4	-	27	3780	c.3237delA	c.(3235-3237)aaafs	p.K1079fs	PTPRD_ENST00000540109.1_Frame_Shift_Del_p.K1079fs|PTPRD_ENST00000356435.5_Frame_Shift_Del_p.K1079fs|PTPRD_ENST00000397611.3_Frame_Shift_Del_p.K665fs|PTPRD_ENST00000537002.1_Frame_Shift_Del_p.K665fs|PTPRD_ENST00000360074.4_Frame_Shift_Del_p.K1066fs|PTPRD_ENST00000358503.5_Frame_Shift_Del_p.K1057fs|PTPRD_ENST00000397606.3_Frame_Shift_Del_p.K658fs|PTPRD_ENST00000355233.5_Frame_Shift_Del_p.K668fs|PTPRD_ENST00000486161.1_Frame_Shift_Del_p.K668fs|PTPRD_ENST00000397617.3_Frame_Shift_Del_p.K658fs|PTPRD_ENST00000471274.1_5'Flank	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	1079	Fibronectin type-III 8. {ECO:0000255|PROSITE-ProRule:PRU00316}.				heterophilic cell-cell adhesion (GO:0007157)|neuron differentiation (GO:0030182)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|positive regulation of dendrite morphogenesis (GO:0050775)|presynaptic membrane assembly (GO:0097105)|protein dephosphorylation (GO:0006470)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	cell adhesion molecule binding (GO:0050839)|receptor binding (GO:0005102)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		ATGAATATGATTTCTCAGGCT	0.448										TSP Lung(15;0.13)																												ENST00000381196.4																			0				NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168						c.(3235-3237)aafs		protein tyrosine phosphatase, receptor type, D							114	102	106					9																	8484295		2203	4300	6503	SO:0001589	frameshift_variant	5789				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr9:8484295delT	X54133	CCDS6472.1, CCDS43786.1, CCDS6472.2, CCDS55288.1, CCDS55289.1, CCDS55290.1, CCDS75813.1	9p24.1-p23	2013-02-11			ENSG00000153707	ENSG00000153707		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	9668	protein-coding gene	gene with protein product		601598				7896816, 8355697	Standard	NM_002839		Approved	PTPD, HPTP	uc003zkk.3	P23468	OTTHUMG00000021005	ENST00000381196.4:c.3237delA	9.37:g.8484295delT	ENSP00000370593:p.Lys1079fs	TSP Lung(15;0.13)				PTPRD_ENST00000397611.3_Frame_Shift_Del_p.K665fs|PTPRD_ENST00000360074.4_Frame_Shift_Del_p.K1066fs|PTPRD_ENST00000540109.1_Frame_Shift_Del_p.K1079fs|PTPRD_ENST00000537002.1_Frame_Shift_Del_p.K665fs|PTPRD_ENST00000486161.1_Frame_Shift_Del_p.K668fs|PTPRD_ENST00000358503.5_Frame_Shift_Del_p.K1057fs|PTPRD_ENST00000356435.5_Frame_Shift_Del_p.K1079fs|PTPRD_ENST00000355233.5_Frame_Shift_Del_p.K668fs|PTPRD_ENST00000397606.3_Frame_Shift_Del_p.K658fs|PTPRD_ENST00000397617.3_Frame_Shift_Del_p.K658fs	p.K1079fs	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)	27	3780	-		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)	1079			Fibronectin type-III 8.		B1ALA0|F5GWT7|Q3KPJ0|Q3KPJ1|Q3KPJ2	Frame_Shift_Del	DEL	ENST00000381196.4	37	c.3237delA	CCDS43786.1																																																																																				0.448	PTPRD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055395.3			2	4						2	4	---	---	---	---	-	8484295	T	-	8484295	7	5	241	1	0	1	0	1	0	0	0	0	12799	1490	52	0	2634	0	PTPRD	9	8484295	Frame_Shift_Del	DEL	T	TCGA-HC-A631-01A-11D-A29Q-08		8484295	132729136	29	11326											
SH3GL2	6456	broad.mit.edu	37	chr9	17791307	17791307	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aggcagtccagatcctgcagCaagtcacggtcagactggaa	12	6	12	11	1	2	2	2	0	0	2	4	3	4	3	2	3	2	3	2	3	2	0			TCGA-HC-A631-01A-11D-A29Q-08	TCGA-HC-A631-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5949750-2444-4081-ad78-05d4614f4467	9e26e7c1-58ba-4e1d-b9bc-bdac163f4834	g.chr9:17791307C>T	ENST00000380607.4	+	7	823	c.703C>T	c.(703-705)Caa>Taa	p.Q235*	SH3GL2_ENST00000537391.1_Nonsense_Mutation_p.Q188*	NM_003026.2	NP_003017.1	Q99962	SH3G2_HUMAN	SH3-domain GRB2-like 2	235	BAR. {ECO:0000255|PROSITE- ProRule:PRU00361}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon guidance (GO:0007411)|central nervous system development (GO:0007417)|epidermal growth factor receptor signaling pathway (GO:0007173)|membrane organization (GO:0061024)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|neurotrophin TRK receptor signaling pathway (GO:0048011)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of receptor internalization (GO:0002090)|signal transduction (GO:0007165)|synaptic vesicle endocytosis (GO:0048488)	clathrin-coated endocytic vesicle membrane (GO:0030669)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)|lipid binding (GO:0008289)			NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(11)|skin(3)|upper_aerodigestive_tract(1)	26				GBM - Glioblastoma multiforme(50;2.71e-10)|Lung(42;0.203)		GATCCTGCAGCAAGTCACGGT	0.423																																						ENST00000380607.4																			0				NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(11)|skin(3)|upper_aerodigestive_tract(1)	26						c.(703-705)Caa>Taa		SH3-domain GRB2-like 2							147	134	139					9																	17791307		2203	4300	6503	SO:0001587	stop_gained	6456				axon guidance|central nervous system development|endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|post-Golgi vesicle-mediated transport	cytosol|Golgi membrane|plasma membrane	identical protein binding|lipid binding	g.chr9:17791307C>T	X99657	CCDS6483.1	9p22	2008-02-05			ENSG00000107295	ENSG00000107295			10831	protein-coding gene	gene with protein product		604465				9169142	Standard	XM_005251549		Approved	SH3P4, SH3D2A, CNSA2, EEN-B1	uc003zna.3	Q99962	OTTHUMG00000019601	ENST00000380607.4:c.703C>T	9.37:g.17791307C>T	ENSP00000369981:p.Gln235*					SH3GL2_ENST00000537391.1_Nonsense_Mutation_p.Q188*	p.Q235*	NM_003026.2	NP_003017.1	Q99962	SH3G2_HUMAN		GBM - Glioblastoma multiforme(50;2.71e-10)|Lung(42;0.203)	7	823	+			235			BAR.		B2R618|Q9NQK5	Nonsense_Mutation	SNP	ENST00000380607.4	37	c.703C>T	CCDS6483.1	.	.	.	.	.	.	.	.	.	.	C	36	5.734344	0.96865	.	.	ENSG00000107295	ENST00000541215;ENST00000397481;ENST00000380607;ENST00000537391	.	.	.	5.33	5.33	0.75918	.	0.220791	0.37809	N	0.001935	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.23891	T	0.37	.	14.6106	0.68514	0.0:0.8545:0.1455:0.0	.	.	.	.	X	64;213;235;188	.	ENSP00000369981:Q235X	Q	+	1	0	SH3GL2	17781307	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	3.874000	0.56101	2.491000	0.84063	0.643000	0.83706	CAA		0.423	SH3GL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051796.1	NM_003026		36	6	0	0	0	1	0	36	6					T	17791307	C	T	17791307	4	4	241	1	0	0	0	0	0	1	0	0	14251	711	25	3	729	3	SH3GL2	9	17791307	Nonsense_Mutation	SNP	C	TCGA-HC-A631-01A-11D-A29Q-08	9307012	17791307	123422124	30	11327											
ALDH1A1	216	broad.mit.edu	37	chr9	75526938	75526938	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ctgtgggctggacaaagtagCctttattcccccacgggcct	7	10	11	13	1	0	0	0	0	0	0	1	1	1	1	4	3	1	2	4	3	3	4	rs142280224		TCGA-HC-A631-01A-11D-A29Q-08	TCGA-HC-A631-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5949750-2444-4081-ad78-05d4614f4467	9e26e7c1-58ba-4e1d-b9bc-bdac163f4834	g.chr9:75526938C>A	ENST00000297785.3	-	10	1190	c.1136G>T	c.(1135-1137)gGc>gTc	p.G379V		NM_000689.4	NP_000680.2	P00352	AL1A1_HUMAN	aldehyde dehydrogenase 1 family, member A1	379					cellular aldehyde metabolic process (GO:0006081)|ethanol oxidation (GO:0006069)|positive regulation of Ras GTPase activity (GO:0032320)|retinol metabolic process (GO:0042572)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	aldehyde dehydrogenase (NAD) activity (GO:0004029)|androgen binding (GO:0005497)|Ras GTPase activator activity (GO:0005099)|retinal dehydrogenase activity (GO:0001758)			breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)	17					Tretinoin(DB00755)|Vitamin A(DB00162)	GACAAAGTAGCCTTTATTCCC	0.443																																						ENST00000297785.3																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)	17						c.(1135-1137)gGc>gTc		aldehyde dehydrogenase 1 family, member A1	NADH(DB00157)|Tretinoin(DB00755)|Vitamin A(DB00162)						156	137	144					9																	75526938		2203	4300	6503	SO:0001583	missense	216				cellular aldehyde metabolic process|ethanol oxidation|xenobiotic metabolic process	cytosol	aldehyde dehydrogenase (NAD) activity|androgen binding|Ras GTPase activator activity|retinal dehydrogenase activity	g.chr9:75526938C>A	K03000	CCDS6644.1	9q21.13	2010-08-05			ENSG00000165092	ENSG00000165092	1.2.1.36, 1.2.1.3	"Aldehyde dehydrogenases"	402	protein-coding gene	gene with protein product	"retinaldehyde dehydrogenase 1"	100640		PUMB1, ALDH1		1709013	Standard	NM_000689		Approved	RALDH1	uc004ajd.3	P00352	OTTHUMG00000020019	ENST00000297785.3:c.1136G>T	9.37:g.75526938C>A	ENSP00000297785:p.Gly379Val						p.G379V	NM_000689.4	NP_000680.2	P00352	AL1A1_HUMAN			10	1190	-			379					O00768|Q5SYR1	Missense_Mutation	SNP	ENST00000297785.3	37	c.1136G>T	CCDS6644.1	.	.	.	.	.	.	.	.	.	.	C	29.5	5.014904	0.93404	.	.	ENSG00000165092	ENST00000297785	D	0.83992	-1.79	5.91	5.91	0.95273	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, C-terminal (1);Aldehyde/histidinol dehydrogenase (1);	0.139731	0.49916	D	0.000133	D	0.95156	0.8430	H	0.98089	4.145	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.96263	0.9192	10	0.87932	D	0	.	20.2963	0.98556	0.0:1.0:0.0:0.0	.	300;379	B4DDF8;P00352	.;AL1A1_HUMAN	V	379	ENSP00000297785:G379V	ENSP00000297785:G379V	G	-	2	0	ALDH1A1	74716758	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	7.416000	0.80143	2.813000	0.96785	0.655000	0.94253	GGC		0.443	ALDH1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052679.1			45	78	1	0	4.64027e-19	1	4.93489e-19	45	78					A	75526938	C	A	75526938	3	1	241	1	0	0	0	0	1	0	0	0	490	739	26	5	385	5	ALDH1A1	9	75526938	Missense_Mutation	SNP	C	TCGA-HC-A631-01A-11D-A29Q-08	57735631	75526938	65686493	31	11328											
PAPPA	5069	broad.mit.edu	37	chr9	118950481	118950481	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	actcagacttgctttgacccCgactctccacacaggtaaga	11	9	7	14	1	2	3	1	1	1	2	3	4	2	3	3	1	1	2	3	1	1	3	rs535986686		TCGA-HC-A631-01A-11D-A29Q-08	TCGA-HC-A631-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5949750-2444-4081-ad78-05d4614f4467	9e26e7c1-58ba-4e1d-b9bc-bdac163f4834	g.chr9:118950481C>T	ENST00000328252.3	+	2	1833	c.1464C>T	c.(1462-1464)ccC>ccT	p.P488P	PAPPA_ENST00000534838.1_5'UTR	NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A, pappalysin 1	488	Metalloprotease.				cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|female pregnancy (GO:0007565)|response to follicle-stimulating hormone (GO:0032354)|response to glucocorticoid (GO:0051384)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)	endopeptidase activity (GO:0004175)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						GCTTTGACCCCGACTCTCCAC	0.483													C|||	1	0.000199681	0	0	5008	,	,		19289	0.001		0	False		,,,				2504	0					ENST00000328252.3																			0				NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						c.(1462-1464)ccC>ccT		pregnancy-associated plasma protein A, pappalysin 1							64	50	55					9																	118950481		2203	4300	6503	SO:0001819	synonymous_variant	5069				cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding	g.chr9:118950481C>T		CCDS6813.1	9q33.1	2014-03-05			ENSG00000182752	ENSG00000182752			8602	protein-coding gene	gene with protein product	"insulin-like growth factor-dependent IGF binding protein-4 protease", "aspecific BCL2 ARE-binding protein 2", "differentially placenta 1 expressed protein"	176385				7679961	Standard	NM_002581		Approved	PAPP-A, PAPPA1, IGFBP-4ase, PAPA, ASBABP2, DIPLA1	uc004bjn.3	Q13219	OTTHUMG00000021045	ENST00000328252.3:c.1464C>T	9.37:g.118950481C>T						PAPPA_ENST00000534838.1_5'UTR	p.P488P	NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN			2	1833	+			488			Metalloprotease.		B1AMF9|Q08371|Q68G52|Q9UDK7	Silent	SNP	ENST00000328252.3	37	c.1464C>T	CCDS6813.1																																																																																				0.483	PAPPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055546.1	NM_002581		14	19	0	0	0	1	0	14	19					T	118950481	C	T	118950481	2	4	241	1	0	0	0	0	0	0	0	1	11432	639	23	2		2	PAPPA	9	118950481	Silent	SNP	C	TCGA-HC-A631-01A-11D-A29Q-08	43423543	118950481	22262950	32	11329											
RABEPK	10244	broad.mit.edu	37	chr9	127975736	127975736	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tccctcctgcacacctgaccGtatctgggtatttggaggtg	6	12	11	12	1	1	1	0	1	1	0	3	2	3	2	4	3	1	3	4	3	2	3	rs147509125		TCGA-HC-A631-01A-11D-A29Q-08	TCGA-HC-A631-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5949750-2444-4081-ad78-05d4614f4467	9e26e7c1-58ba-4e1d-b9bc-bdac163f4834	g.chr9:127975736G>A	ENST00000373538.3	+	4	609	c.299G>A	c.(298-300)cGt>cAt	p.R100H	RABEPK_ENST00000394124.4_Missense_Mutation_p.R100H|RABEPK_ENST00000373544.1_Missense_Mutation_p.R100H|RABEPK_ENST00000259460.8_Intron|RABEPK_ENST00000394125.4_Missense_Mutation_p.R100H	NM_005833.3	NP_005824.2	Q7Z6M1	RABEK_HUMAN	Rab9 effector protein with kelch motifs	100					receptor-mediated endocytosis (GO:0006898)|vesicle docking involved in exocytosis (GO:0006904)	endosome (GO:0005768)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)				NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	15						ACACCTGACCGTATCTGGGTA	0.448																																						ENST00000373544.1																			0				NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	15						c.(298-300)cGt>cAt		Rab9 effector protein with kelch motifs		G	HIS/ARG,,HIS/ARG	2,4404	4.2+/-10.8	0,2,2201	131	119	123		299,,299	1.5	0.2	9	dbSNP_134	123	0,8600		0,0,4300	no	missense,intron,missense	RABEPK	NM_001174152.1,NM_001174153.1,NM_005833.3	29,,29	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	benign,,benign	100/373,,100/373	127975736	2,13004	2203	4300	6503	SO:0001583	missense	10244				receptor-mediated endocytosis|vesicle docking involved in exocytosis	endosome membrane|plasma membrane		g.chr9:127975736G>A	BC000503	CCDS6862.1, CCDS55341.1	9q33.1-q33.3	2010-04-19			ENSG00000136933	ENSG00000136933			16896	protein-coding gene	gene with protein product		605962				9230071	Standard	NM_005833		Approved	RAB9P40, bA65N13.1	uc004bpi.3	Q7Z6M1	OTTHUMG00000020674	ENST00000373538.3:c.299G>A	9.37:g.127975736G>A	ENSP00000362639:p.Arg100His					RABEPK_ENST00000394125.4_Missense_Mutation_p.R100H|RABEPK_ENST00000259460.8_Intron|RABEPK_ENST00000373538.3_Missense_Mutation_p.R100H|RABEPK_ENST00000394124.4_Missense_Mutation_p.R100H	p.R100H			Q7Z6M1	RABEK_HUMAN			5	465	+			100					A8K403|O00568|Q69YR2|Q6FHA4|Q6IBG7|Q6P092|Q86Y76|Q9BWB1	Missense_Mutation	SNP	ENST00000373538.3	37	c.299G>A	CCDS6862.1	.	.	.	.	.	.	.	.	.	.	G	4.987	0.183381	0.09495	4.54E-4	0.0	ENSG00000136933	ENST00000394125;ENST00000373544;ENST00000394124;ENST00000373538;ENST00000416065	T;T;T;T;T	0.68181	0.84;-0.31;-0.31;0.84;0.84	5.47	1.49	0.22878	Galactose oxidase, beta-propeller (1);	0.429767	0.29403	N	0.012242	T	0.54532	0.1864	L	0.52206	1.635	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.04013	0.001;0.0	T	0.43798	-0.9369	10	0.40728	T	0.16	-0.2788	6.7011	0.23225	0.2233:0.254:0.5227:0.0	.	100;100	Q7Z6M1;Q5T1S4	RABEK_HUMAN;.	H	100;100;100;100;183	ENSP00000377683:R100H;ENSP00000362645:R100H;ENSP00000377682:R100H;ENSP00000362639:R100H;ENSP00000402234:R183H	ENSP00000362639:R100H	R	+	2	0	RABEPK	127015557	1.000000	0.71417	0.195000	0.23364	0.047000	0.14425	1.514000	0.35834	-0.185000	0.10550	-2.511000	0.00188	CGT		0.448	RABEPK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054064.1	NM_005833		4	104	0	0	0	1	0	4	104					A	127975736	G	A	127975736	3	1	241	1	0	0	0	0	1	0	0	0	12963	1145	40	1	309	1	RABEPK	9	127975736	Missense_Mutation	SNP	G	TCGA-HC-A631-01A-11D-A29Q-08	9025255	127975736	13237695	33	11330											
CDH23	414152	broad.mit.edu	37	chr10	73468898	73468898	+	IGR	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agcgtgggttaccgcgatgcCgttgtgagaaccgtggtggg	6	9	18	8	5	0	1	0	1	0	1	0	3	0	1	3	3	4	2	3	3	2	2			TCGA-HC-A631-01A-11D-A29Q-08	TCGA-HC-A631-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5949750-2444-4081-ad78-05d4614f4467	9e26e7c1-58ba-4e1d-b9bc-bdac163f4834	g.chr10:73468898C>T	ENST00000441508.2	-	0	4837				CDH23_ENST00000224721.6_Silent_p.A1055A	NM_001164375.2	NP_001157847.1	Q8TEF2	CJ105_HUMAN	chromosome 10 open reading frame 105							integral component of membrane (GO:0016021)											ACCGCGATGCCGTTGTGAGAA	0.627																																						ENST00000224721.6																			0				NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						c.(3163-3165)gcC>gcT		cadherin-related 23							94	115	108					10																	73468898		2144	4249	6393	SO:0001628	intergenic_variant	64072				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding	g.chr10:73468898C>T	AK074172	CCDS44430.1	10q22.1	2012-06-01			ENSG00000214688	ENSG00000214688			20304	protein-coding gene	gene with protein product							Standard	NM_001164375		Approved	FLJ00245	uc001jsa.2	Q8TEF2	OTTHUMG00000018427		10.37:g.73468898C>T							p.A1055A	NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN			26	3170	+			1050			Cadherin 10.			Silent	SNP	ENST00000441508.2	37	c.3165C>T	CCDS44430.1																																																																																				0.627	C10orf105-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048551.2	NM_001164375		6	60	0	0	0	1	0	6	60					T	73468898	C	T	73468898	1	4	241	0	1	0	0	0	0	0	0	0	3108	639	23	2		2	CDH23	10	73468898	IGR	SNP	C	TCGA-HC-A631-01A-11D-A29Q-08		73468898	62065849	34	11331											
CTSD	1509	broad.mit.edu	37	chr11	1776173	1776173	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagtaggccttgcgggtgaCattcaggtaggacagagaac	11	7	14	9	1	1	2	1	1	0	1	1	4	1	3	2	4	2	2	2	4	3	4			TCGA-HC-A631-01A-11D-A29Q-08	TCGA-HC-A631-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5949750-2444-4081-ad78-05d4614f4467	9e26e7c1-58ba-4e1d-b9bc-bdac163f4834	g.chr11:1776173C>T	ENST00000236671.2	-	6	922	c.790G>A	c.(790-792)Gtc>Atc	p.V264I	RP11-295K3.1_ENST00000427721.1_Missense_Mutation_p.M134I	NM_001909.4	NP_001900.1	P07339	CATD_HUMAN	cathepsin D	264					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|autophagic vacuole assembly (GO:0000045)|cell death (GO:0008219)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)|mitochondrion (GO:0005739)	aspartic-type endopeptidase activity (GO:0004190)			endometrium(1)|large_intestine(4)|lung(8)	13		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00136)|Lung(200;0.0684)|LUSC - Lung squamous cell carcinoma(625;0.0822)	"""Insulin(DB00071)|Insulin Regular(DB00030)"	TTGCGGGTGACATTCAGGTAG	0.622																																						ENST00000236671.2																			0				endometrium(1)|large_intestine(4)|lung(8)	13						c.(790-792)Gtc>Atc		cathepsin D	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)						107	95	99					11																	1776173		2202	4299	6501	SO:0001583	missense	1509				cell death|proteolysis	extracellular space|lysosome|melanosome	aspartic-type endopeptidase activity	g.chr11:1776173C>T	M11233	CCDS7725.1	11p15.5	2009-06-26	2006-12-05		ENSG00000117984	ENSG00000117984	3.4.23.5	"Cathepsins"	2529	protein-coding gene	gene with protein product	"ceroid-lipofuscinosis, neuronal 10"	116840	"cathepsin D (lysosomal aspartyl protease)"	CPSD		3927292	Standard	NM_001909		Approved	CLN10	uc001luc.2	P07339	OTTHUMG00000044760	ENST00000236671.2:c.790G>A	11.37:g.1776173C>T	ENSP00000236671:p.Val264Ile					RP11-295K3.1_ENST00000427721.1_Missense_Mutation_p.M134I	p.V264I	NM_001909.4	NP_001900.1	P07339	CATD_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00136)|Lung(200;0.0684)|LUSC - Lung squamous cell carcinoma(625;0.0822)	6	922	-		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	264					Q6IB57	Missense_Mutation	SNP	ENST00000236671.2	37	c.790G>A	CCDS7725.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	15.18|15.18	2.757560|2.757560	0.49468|0.49468	.|.	.|.	ENSG00000250644|ENSG00000117984	ENST00000427721|ENST00000236671;ENST00000429746;ENST00000438213	.|T;T;T	.|0.61742	.|0.08;0.32;0.08	4.25|4.25	4.25|4.25	0.50352|0.50352	.|Peptidase aspartic (1);Peptidase aspartic, catalytic (1);	.|0.131711	.|0.51477	.|D	.|0.000092	T|T	0.59280|0.59280	0.2182|0.2182	M|M	0.62266|0.62266	1.93|1.93	0.49798|0.49798	D|D	0.999826|0.999826	.|P	.|0.37864	.|0.61	.|B	.|0.39738	.|0.308	T|T	0.65747|0.65747	-0.6093|-0.6093	5|10	.|0.52906	.|T	.|0.07	.|.	17.2115|17.2115	0.86931|0.86931	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|264	.|P07339	.|CATD_HUMAN	I|I	134|264;2;249	.|ENSP00000236671:V264I;ENSP00000402586:V2I;ENSP00000415036:V249I	.|ENSP00000236671:V264I	M|V	-|-	3|1	0|0	RP11-295K3.1|CTSD	1732749|1732749	0.921000|0.921000	0.31238|0.31238	0.998000|0.998000	0.56505|0.56505	0.664000|0.664000	0.39144|0.39144	1.713000|1.713000	0.37951|0.37951	2.373000|2.373000	0.80994|0.80994	0.455000|0.455000	0.32223|0.32223	ATG|GTC		0.622	CTSD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000104272.5	NM_001909		36	51	0	0	0	1	0	36	51					T	1776173	C	T	1776173	3	4	241	1	0	0	0	0	1	0	0	0	4032	478	17	3	464	3	CTSD	11	1776173	Missense_Mutation	SNP	C	TCGA-HC-A631-01A-11D-A29Q-08		1776173	133230343	35	11332											
SLC6A5	9152	broad.mit.edu	37	chr11	20648387	20648387	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagaaactcacggatgccaCggtgggcttctaattttatc	10	11	11	9	2	2	1	1	0	1	1	3	3	2	2	1	4	2	1	1	4	3	4	rs146647574	byFrequency	TCGA-HC-A631-01A-11D-A29Q-08	TCGA-HC-A631-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5949750-2444-4081-ad78-05d4614f4467	9e26e7c1-58ba-4e1d-b9bc-bdac163f4834	g.chr11:20648387C>T	ENST00000525748.1	+	8	1667	c.1394C>T	c.(1393-1395)aCg>aTg	p.T465M		NM_004211.3	NP_004202.2	Q9Y345	SC6A5_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 5	465					glycine import (GO:0036233)|synaptic transmission (GO:0007268)|synaptic transmission, glycinergic (GO:0060012)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	glycine:sodium symporter activity (GO:0015375)|neurotransmitter:sodium symporter activity (GO:0005328)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(34)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	63					Glycine(DB00145)	ACGGATGCCACGGTGGGCTTC	0.562																																						ENST00000525748.1																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(34)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	63						c.e8+1		solute carrier family 6 (neurotransmitter transporter), member 5	Glycine(DB00145)	C	MET/THR	3,4403	6.2+/-15.9	0,3,2200	98	94	95		1394	6	1	11	dbSNP_134	95	2,8598	2.2+/-6.3	0,2,4298	yes	missense-near-splice	SLC6A5	NM_004211.3	81	0,5,6498	TT,TC,CC		0.0233,0.0681,0.0384	benign	465/798	20648387	5,13001	2203	4300	6503	SO:0001630	splice_region_variant	9152				synaptic transmission	integral to membrane|plasma membrane	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity	g.chr11:20648387C>T	AF085412	CCDS7854.1	11p15.1	2013-07-19	2013-07-19		ENSG00000165970	ENSG00000165970		"Solute carriers"	11051	protein-coding gene	gene with protein product	"glycine transporter 2"	604159	"solute carrier family 6 (neurotransmitter transporter, glycine), member 5"	NET1		9845349	Standard	NM_004211		Approved	GLYT2	uc001mqd.3	Q9Y345	OTTHUMG00000166024	ENST00000525748.1:c.1395+1C>T	11.37:g.20648387C>T							p.T465_splice	NM_004211.3	NP_004202.2	Q9Y345	SC6A5_HUMAN			8	1667	+			465					O95288|Q4VAM7|Q9BX77	Splice_Site	SNP	ENST00000525748.1	37	c.1395_splice	CCDS7854.1	.	.	.	.	.	.	.	.	.	.	C	13.54	2.269015	0.40095	6.81E-4	2.33E-4	ENSG00000165970	ENST00000525748	T	0.74842	-0.88	6.04	6.04	0.98038	.	0.134719	0.64402	D	0.000003	T	0.57888	0.2084	N	0.24115	0.695	0.36378	D	0.861716	B	0.26975	0.165	B	0.20184	0.028	T	0.61362	-0.7078	10	0.41790	T	0.15	.	8.3345	0.32206	0.0:0.8169:0.0:0.1831	.	465	Q9Y345	SC6A5_HUMAN	M	465	ENSP00000434364:T465M	ENSP00000434364:T465M	T	+	2	0	SLC6A5	20604963	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	3.045000	0.49838	2.873000	0.98535	0.561000	0.74099	ACG		0.562	SLC6A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387497.2	NM_004211	Missense_Mutation	51	60	0	0	0	1	0	51	60					T	20648387	C	T	20648387	5	4	241	1	0	0	0	0	0	0	1	0	14687	550	19	1	1424	1	SLC6A5	11	20648387	Splice_Site	SNP	C	TCGA-HC-A631-01A-11D-A29Q-08	18872214	20648387	114358129	36	11333											
KCNJ5	3762	broad.mit.edu	37	chr11	128781513	128781513	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tggctcattgcttatatccgGggtgacctggaccatgttgg	6	13	13	9	1	1	1	1	1	0	0	2	2	2	2	3	5	1	3	3	5	2	4			TCGA-HC-A631-01A-11D-A29Q-08	TCGA-HC-A631-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5949750-2444-4081-ad78-05d4614f4467	9e26e7c1-58ba-4e1d-b9bc-bdac163f4834	g.chr11:128781513G>T	ENST00000338350.4	+	3	697	c.345G>T	c.(343-345)cgG>cgT	p.R115R	KCNJ5_ENST00000529694.1_Silent_p.R115R|KCNJ5_ENST00000533599.1_Silent_p.R115R			P48544	KCNJ5_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 5	115					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	G-protein activated inward rectifier potassium channel activity (GO:0015467)			NS(1)|breast(1)|endometrium(4)|large_intestine(4)|liver(2)|lung(9)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	26	all_hematologic(175;0.0641)	Lung NSC(97;0.00038)|all_lung(97;0.000817)|Breast(109;0.00123)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0059)|LUSC - Lung squamous cell carcinoma(976;0.021)|Lung(977;0.0215)	Glyburide(DB01016)	CTTATATCCGGGGTGACCTGG	0.507																																					Pancreas(108;2548 5082)|Esophageal Squamous(165;4544 6231)	ENST00000529694.1																			0				NS(1)|breast(1)|endometrium(4)|large_intestine(4)|liver(2)|lung(9)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	26						c.(343-345)cgG>cgT		potassium inwardly-rectifying channel, subfamily J, member 5	Glibenclamide(DB01016)						131	128	129					11																	128781513		2201	4297	6498	SO:0001819	synonymous_variant	3762				synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding	g.chr11:128781513G>T	D50134	CCDS8479.1	11q24	2014-09-17				ENSG00000120457		"Potassium channels", "Voltage-gated ion channels / Potassium channels, Inwardly rectifying"	6266	protein-coding gene	gene with protein product		600734				16382105	Standard	NM_000890		Approved	Kir3.4, CIR, KATP1, GIRK4, LQT13	uc001qet.3	P48544		ENST00000338350.4:c.345G>T	11.37:g.128781513G>T						KCNJ5_ENST00000338350.4_Silent_p.R115R|KCNJ5_ENST00000533599.1_Silent_p.R115R	p.R115R	NM_000890.3	NP_000881.3	P48544	IRK5_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.0059)|LUSC - Lung squamous cell carcinoma(976;0.021)|Lung(977;0.0215)	2	721	+	all_hematologic(175;0.0641)	Lung NSC(97;0.00038)|all_lung(97;0.000817)|Breast(109;0.00123)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)	115					B2R744|Q6DK13|Q6DK14|Q92807	Silent	SNP	ENST00000338350.4	37	c.345G>T	CCDS8479.1																																																																																				0.507	KCNJ5-003	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000386239.1	NM_000890		58	61	1	0	1.27862e-28	1	1.38173e-28	58	61					T	128781513	G	T	128781513	2	4	241	1	0	0	0	0	0	0	0	1	8054	1219	43	5		5	KCNJ5	11	128781513	Silent	SNP	G	TCGA-HC-A631-01A-11D-A29Q-08	108133126	128781513	6225003	37	11334											
ZBTB44	29068	broad.mit.edu	37	chr11	130130970	130130970	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ctcacaagtcacataatcagCcattcttctaccggtctcag	11	11	5	14	1	6	0	4	0	3	0	7	0	6	0	2	1	2	0	2	1	3	4			TCGA-HC-A631-01A-11D-A29Q-08	TCGA-HC-A631-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5949750-2444-4081-ad78-05d4614f4467	9e26e7c1-58ba-4e1d-b9bc-bdac163f4834	g.chr11:130130970C>G	ENST00000357899.4	-	2	1071	c.799G>C	c.(799-801)Gct>Cct	p.A267P	ZBTB44_ENST00000525842.1_Missense_Mutation_p.A267P|ZBTB44_ENST00000397753.1_Missense_Mutation_p.A267P|ZBTB44_ENST00000530205.1_Missense_Mutation_p.A267P			Q8NCP5	ZBT44_HUMAN	zinc finger and BTB domain containing 44	267					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			autonomic_ganglia(1)|breast(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)	15	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0192)|Lung(977;0.235)		ACATAATCAGCCATTCTTCTA	0.433																																						ENST00000525842.1																			0				autonomic_ganglia(1)|breast(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)	15						c.(799-801)Gct>Cct		zinc finger and BTB domain containing 44							130	125	126					11																	130130970		1913	4122	6035	SO:0001583	missense	29068				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr11:130130970C>G	AK024659	CCDS44776.1, CCDS73414.1, CCDS73415.1	11q24.3	2013-01-08	2006-09-19	2006-09-19		ENSG00000196323		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	25001	protein-coding gene	gene with protein product			"BTB (POZ) domain containing 15"	BTBD15		11042152	Standard	NM_014155		Approved	HSPC063, ZNF851	uc001qgb.4	Q8NCP5		ENST00000357899.4:c.799G>C	11.37:g.130130970C>G	ENSP00000350574:p.Ala267Pro					ZBTB44_ENST00000530205.1_Missense_Mutation_p.A267P|ZBTB44_ENST00000397753.1_Missense_Mutation_p.A267P|ZBTB44_ENST00000357899.4_Missense_Mutation_p.A267P	p.A267P	NM_014155.4	NP_054874.3	Q8NCP5	ZBT44_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.0192)|Lung(977;0.235)	2	1166	-	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)	267					Q6IPT8|Q86VJ7|Q86XX5	Missense_Mutation	SNP	ENST00000357899.4	37	c.799G>C		.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	C|C|C	10.73|10.73|10.73	1.432532|1.432532|1.432532	0.25813|0.25813|0.25813	.|.|.	.|.|.	ENSG00000196323|ENSG00000196323|ENSG00000196323	ENST00000525842;ENST00000397753;ENST00000445008;ENST00000357899;ENST00000530205;ENST00000338191|ENST00000527478|ENST00000529982	T;T;T;T;T|.|.	0.13657|.|.	2.57;2.95;2.67;2.95;2.57|.|.	5.37|5.37|5.37	-1.93|-1.93|-1.93	0.07594|0.07594|0.07594	.|.|.	0.680438|.|.	0.15737|.|.	N|.|.	0.247102|.|.	T|T|T	0.26159|0.26159|0.26159	0.0638|0.0638|0.0638	N|N|N	0.14661|0.14661|0.14661	0.345|0.345|0.345	0.29233|0.29233|0.29233	N|N|N	0.873174|0.873174|0.873174	B;B;B;B|.|.	0.28880|.|.	0.118;0.036;0.145;0.226|.|.	B;B;B;B|.|.	0.31686|.|.	0.069;0.043;0.043;0.134|.|.	T|T|T	0.33954|0.33954|0.33954	-0.9848|-0.9848|-0.9848	10|5|5	0.46703|.|.	T|.|.	0.11|.|.	.|.|.	11.78|11.78|11.78	0.52008|0.52008|0.52008	0.0:0.4912:0.0:0.5088|0.0:0.4912:0.0:0.5088|0.0:0.4912:0.0:0.5088	.|.|.	267;267;267;267|.|.	Q8NCP5-4;Q8NCP5-3;Q8NCP5;Q8NCP5-2|.|.	.;.;ZBT44_HUMAN;.|.|.	P|A|C	267;267;267;267;267;179|263|120	ENSP00000433457:A267P;ENSP00000380861:A267P;ENSP00000408079:A267P;ENSP00000350574:A267P;ENSP00000434177:A267P|.|.	ENSP00000341618:A179P|.|.	A|G|W	-|-|-	1|2|3	0|0|0	ZBTB44|ZBTB44|ZBTB44	129636180|129636180|129636180	0.296000|0.296000|0.296000	0.24398|0.24398|0.24398	0.967000|0.967000|0.967000	0.41034|0.41034|0.41034	0.739000|0.739000|0.739000	0.42172|0.42172|0.42172	-0.360000|-0.360000|-0.360000	0.07622|0.07622|0.07622	-0.247000|-0.247000|-0.247000	0.09597|0.09597|0.09597	-1.008000|-1.008000|-1.008000	0.02478|0.02478|0.02478	GCT|GGC|TGG		0.433	ZBTB44-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000386126.1	NM_014155		7	143	0	0	0	1	0	7	143					G	130130970	C	G	130130970	3	3	241	1	0	0	0	0	1	0	0	0	17542	739	26	5	582	5	ZBTB44	11	130130970	Missense_Mutation	SNP	C	TCGA-HC-A631-01A-11D-A29Q-08	1349457	130130970	4875546	38	11335											
DDX47	51202	broad.mit.edu	37	chr12	12976860	12976860	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaaactcctttatgatattCtgcagcacctgtaataatac	13	13	6	9	0	1	1	0	1	1	0	2	2	2	2	2	1	4	3	2	1	6	7			TCGA-HC-A631-01A-11D-A29Q-08	TCGA-HC-A631-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5949750-2444-4081-ad78-05d4614f4467	9e26e7c1-58ba-4e1d-b9bc-bdac163f4834	g.chr12:12976860C>A	ENST00000358007.3	+	8	829	c.807C>A	c.(805-807)ttC>ttA	p.F269L	DDX47_ENST00000352940.4_Intron	NM_016355.3	NP_057439.2	Q9H0S4	DDX47_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 47	269	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|mRNA processing (GO:0006397)|RNA splicing (GO:0008380)|rRNA processing (GO:0006364)	membrane (GO:0016020)|nucleolus (GO:0005730)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16		Prostate(47;0.0526)		BRCA - Breast invasive adenocarcinoma(232;0.0354)		TTATGATATTCTGCAGCACCT	0.413																																						ENST00000358007.3																			0				breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16						c.(805-807)ttC>ttA		DEAD (Asp-Glu-Ala-Asp) box polypeptide 47							172	170	171					12																	12976860		2203	4300	6503	SO:0001583	missense	51202					nucleolus	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding	g.chr12:12976860C>A	AK127712	CCDS8655.1, CCDS8656.1	12p13.2	2010-07-06			ENSG00000213782	ENSG00000213782		"DEAD-boxes"	18682	protein-coding gene	gene with protein product		615428					Standard	NM_016355		Approved	DKFZp564O176, FLJ30012, HQ0256, RRP3	uc001rax.3	Q9H0S4	OTTHUMG00000168709	ENST00000358007.3:c.807C>A	12.37:g.12976860C>A	ENSP00000350698:p.Phe269Leu					RP11-59H1.3_ENST00000534843.1_3'UTR|DDX47_ENST00000352940.4_Intron	p.F269L	NM_016355.3	NP_057439.2	Q9H0S4	DDX47_HUMAN		BRCA - Breast invasive adenocarcinoma(232;0.0354)	8	829	+		Prostate(47;0.0526)	269			Helicase C-terminal.		B3KXP4|G5E955|Q96GM0|Q96NV8|Q9UI98	Missense_Mutation	SNP	ENST00000358007.3	37	c.807C>A	CCDS8655.1	.	.	.	.	.	.	.	.	.	.	C	29.2	4.989562	0.93106	.	.	ENSG00000213782	ENST00000358007	T	0.10192	2.9	5.53	4.64	0.57946	Helicase, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.50650	0.1628	H	0.97896	4.1	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.72750	-0.4199	10	0.87932	D	0	-15.234	16.4186	0.83751	0.0:0.8683:0.1317:0.0	.	269;269	Q9H4E3;Q9H0S4	.;DDX47_HUMAN	L	269	ENSP00000350698:F269L	ENSP00000350698:F269L	F	+	3	2	DDX47	12868127	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.737000	0.62066	1.323000	0.45263	0.561000	0.74099	TTC		0.413	DDX47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400674.1	NM_016355		4	138	1	0	1	1	1	4	138					A	12976860	C	A	12976860	3	1	241	1	0	0	0	0	1	0	0	0	4365	912	32	5	837	5	DDX47	12	12976860	Missense_Mutation	SNP	C	TCGA-HC-A631-01A-11D-A29Q-08		12976860	120875035	39	11336											
WSCD2	9671	broad.mit.edu	37	chr12	108604003	108604003	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcgacatggagtgcaagggCgagcgaggcagcgtgtgcgg	8	5	20	8	5	0	0	0	0	0	0	0	4	0	1	0	4	5	2	0	4	1	0	rs79029951	byFrequency	TCGA-HC-A631-01A-11D-A29Q-08	TCGA-HC-A631-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5949750-2444-4081-ad78-05d4614f4467	9e26e7c1-58ba-4e1d-b9bc-bdac163f4834	g.chr12:108604003C>T	ENST00000332082.4	+	5	1421	c.603C>T	c.(601-603)ggC>ggT	p.G201G	WSCD2_ENST00000261400.3_Silent_p.G201G|WSCD2_ENST00000547525.1_Silent_p.G201G|WSCD2_ENST00000549903.1_Silent_p.G201G			Q2TBF2	WSCD2_HUMAN	WSC domain containing 2	201	WSC 1. {ECO:0000255|PROSITE- ProRule:PRU00558}.					integral component of membrane (GO:0016021)				breast(4)|endometrium(3)|kidney(1)|large_intestine(16)|liver(2)|lung(23)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	57						AGTGCAAGGGCGAGCGAGGCA	0.682													C|||	4	0.000798722	0.003	0	5008	,	,		16478	0		0	False		,,,				2504	0					ENST00000332082.4																			0				breast(4)|endometrium(3)|kidney(1)|large_intestine(16)|liver(2)|lung(23)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	57						c.(601-603)ggC>ggT		WSC domain containing 2		C		8,4394		0,8,2193	24	31	29		603	0.5	1	12	dbSNP_131	29	0,8586		0,0,4293	no	coding-synonymous	WSCD2	NM_014653.2		0,8,6486	TT,TC,CC		0.0,0.1817,0.0616		201/566	108604003	8,12980	2201	4293	6494	SO:0001819	synonymous_variant	9671					integral to membrane		g.chr12:108604003C>T		CCDS41828.1	12q23.3	2008-02-05				ENSG00000075035			29117	protein-coding gene	gene with protein product							Standard	NM_014653		Approved	KIAA0789	uc001tms.3	Q2TBF2		ENST00000332082.4:c.603C>T	12.37:g.108604003C>T						WSCD2_ENST00000261400.3_Silent_p.G201G|WSCD2_ENST00000549903.1_Silent_p.G201G|WSCD2_ENST00000547525.1_Silent_p.G201G	p.G201G			Q2TBF2	WSCD2_HUMAN			5	1421	+			201			WSC 1.		B2RN48|B4DES1|Q8IY35|Q9Y4B7	Silent	SNP	ENST00000332082.4	37	c.603C>T	CCDS41828.1																																																																																				0.682	WSCD2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405554.1	NM_014653		3	29	0	0	0	1	0	3	29					T	108604003	C	T	108604003	2	4	241	1	0	0	0	0	0	0	0	1	17404	755	27	1		1	WSCD2	12	108604003	Silent	SNP	C	TCGA-HC-A631-01A-11D-A29Q-08	95627143	108604003	25247892	40	11337											
PARP4	143	broad.mit.edu	37	chr13	25021264	25021264	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacatctggattgagttgctGccatttgacggagacagagt	10	11	12	8	1	1	4	0	2	1	2	1	6	1	5	1	2	2	2	1	2	0	3			TCGA-HC-A631-01A-11D-A29Q-08	TCGA-HC-A631-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5949750-2444-4081-ad78-05d4614f4467	9e26e7c1-58ba-4e1d-b9bc-bdac163f4834	g.chr13:25021264G>A	ENST00000381989.3	-	26	3280	c.3175C>T	c.(3175-3177)Cag>Tag	p.Q1059*		NM_006437.3	NP_006428.2	Q9UKK3	PARP4_HUMAN	poly (ADP-ribose) polymerase family, member 4	1059					cell death (GO:0008219)|cellular protein modification process (GO:0006464)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|inflammatory response (GO:0006954)|protein ADP-ribosylation (GO:0006471)|response to drug (GO:0042493)|transport (GO:0006810)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|spindle microtubule (GO:0005876)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|NAD+ ADP-ribosyltransferase activity (GO:0003950)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(18)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63		all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052)		all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195)		TTGAGTTGCTGCCATTTGACG	0.478																																						ENST00000381989.3																			0				autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(18)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63						c.(3175-3177)Cag>Tag		poly (ADP-ribose) polymerase family, member 4							68	65	66					13																	25021264		2203	4300	6503	SO:0001587	stop_gained	143				cell death|DNA repair|inflammatory response|protein ADP-ribosylation|response to drug|transport	cytoplasm|nucleus|ribonucleoprotein complex|spindle microtubule	DNA binding|enzyme binding|NAD+ ADP-ribosyltransferase activity	g.chr13:25021264G>A	AF057160	CCDS9307.1	13q11	2010-09-29	2004-08-20	2004-08-26	ENSG00000102699	ENSG00000102699		"Poly (ADP-ribose) polymerases"	271	protein-coding gene	gene with protein product	"von Willebrand factor A domain containing 5C"	607519	"ADP-ribosyltransferase (NAD+; poly (ADP-ribose) polymerase)-like 1"	ADPRTL1		10644454	Standard	NM_006437		Approved	VAULT3, p193, VPARP, VWA5C	uc001upl.3	Q9UKK3	OTTHUMG00000016582	ENST00000381989.3:c.3175C>T	13.37:g.25021264G>A	ENSP00000371419:p.Gln1059*						p.Q1059*	NM_006437.3	NP_006428.2	Q9UKK3	PARP4_HUMAN		all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195)	26	3280	-		all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052)	1059					O75903|Q14682|Q5QNZ9|Q9H1M6	Nonsense_Mutation	SNP	ENST00000381989.3	37	c.3175C>T	CCDS9307.1	.	.	.	.	.	.	.	.	.	.	G	39	7.772638	0.98480	.	.	ENSG00000102699	ENST00000381989	.	.	.	4.71	4.71	0.59529	.	0.121088	0.56097	D	0.000023	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-17.7634	10.6122	0.45429	0.0:0.0:0.8082:0.1918	.	.	.	.	X	1059	.	ENSP00000371419:Q1059X	Q	-	1	0	PARP4	23919264	1.000000	0.71417	1.000000	0.80357	0.346000	0.29079	5.656000	0.67988	2.615000	0.88500	0.644000	0.83932	CAG		0.478	PARP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044189.1	NM_006437		4	64	0	0	0	1	0	4	64					A	25021264	G	A	25021264	4	1	241	1	0	0	0	0	0	1	0	0	11463	1328	46	3	2035	3	PARP4	13	25021264	Nonsense_Mutation	SNP	G	TCGA-HC-A631-01A-11D-A29Q-08		25021264	90148614	41	11338											
ABHD13	84945	broad.mit.edu	37	chr13	108881587	108881587	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atggaaaagtcctggatgctGtggaactttgttgaaagatg	12	12	13	4	0	0	2	0	1	0	1	1	5	1	5	1	3	2	2	1	3	4	2			TCGA-HC-A631-01A-11D-A29Q-08	TCGA-HC-A631-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5949750-2444-4081-ad78-05d4614f4467	9e26e7c1-58ba-4e1d-b9bc-bdac163f4834	g.chr13:108881587G>A	ENST00000375898.3	+	2	322	c.21G>A	c.(19-21)ctG>ctA	p.L7L		NM_032859.2	NP_116248.2	Q7L211	ABHDD_HUMAN	abhydrolase domain containing 13	7						integral component of membrane (GO:0016021)|membrane (GO:0016020)	hydrolase activity (GO:0016787)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	17	all_lung(23;0.000238)|all_neural(89;0.00256)|Lung NSC(43;0.0056)|Medulloblastoma(90;0.00596)|Lung SC(71;0.104)					CCTGGATGCTGTGGAACTTTG	0.383																																					Pancreas(22;506 789 38166 45896 51596)	ENST00000375898.3																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	17						c.(19-21)ctG>ctA		abhydrolase domain containing 13							120	117	118					13																	108881587		2203	4298	6501	SO:0001819	synonymous_variant	84945					integral to membrane	hydrolase activity	g.chr13:108881587G>A	AK027812	CCDS32007.1	13q33.2	2007-04-03	2006-03-10	2006-03-10	ENSG00000139826	ENSG00000139826		"Abhydrolase domain containing"	20293	protein-coding gene	gene with protein product			"chromosome 13 open reading frame 6"	C13orf6			Standard	NM_032859		Approved	bA153I24.2, FLJ14906, BEM46L1	uc001vqq.3	Q7L211	OTTHUMG00000017330	ENST00000375898.3:c.21G>A	13.37:g.108881587G>A							p.L7L	NM_032859.2	NP_116248.2	Q7L211	ABHDD_HUMAN			2	322	+	all_lung(23;0.000238)|all_neural(89;0.00256)|Lung NSC(43;0.0056)|Medulloblastoma(90;0.00596)|Lung SC(71;0.104)		7					B3KWE7|Q8NBW1|Q96JX9	Silent	SNP	ENST00000375898.3	37	c.21G>A	CCDS32007.1																																																																																				0.383	ABHD13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045743.1	NM_032859		7	46	0	0	0	1	0	7	46					A	108881587	G	A	108881587	2	1	241	1	0	0	0	0	0	0	0	1	78	1364	48	3		3	ABHD13	13	108881587	Silent	SNP	G	TCGA-HC-A631-01A-11D-A29Q-08	83860323	108881587	6288291	42	11339											
NTRK3	4916	broad.mit.edu	37	chr15	88576148	88576148	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ctgggggttctcaatgacagGgatgcgagtcatgccaatga	10	9	14	8	1	2	2	2	2	1	0	3	4	2	3	1	3	2	1	1	3	2	1			TCGA-HC-A631-01A-11D-A29Q-08	TCGA-HC-A631-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5949750-2444-4081-ad78-05d4614f4467	9e26e7c1-58ba-4e1d-b9bc-bdac163f4834	g.chr15:88576148G>A	ENST00000360948.2	-	13	1686	c.1525C>T	c.(1525-1527)Cct>Tct	p.P509S	NTRK3_ENST00000317501.3_Missense_Mutation_p.P509S|NTRK3_ENST00000542733.2_Missense_Mutation_p.P411S|NTRK3_ENST00000394480.2_Missense_Mutation_p.P509S|NTRK3_ENST00000355254.2_Missense_Mutation_p.P509S|NTRK3_ENST00000558306.1_5'UTR|NTRK3_ENST00000557856.1_Missense_Mutation_p.P501S|NTRK3_ENST00000357724.2_Missense_Mutation_p.P501S|NTRK3_ENST00000558676.1_Missense_Mutation_p.P501S|NTRK3_ENST00000540489.2_Missense_Mutation_p.P509S	NM_001012338.2	NP_001012338.1	Q16288	NTRK3_HUMAN	neurotrophic tyrosine kinase, receptor, type 3	509					activation of MAPK activity (GO:0000187)|activation of protein kinase B activity (GO:0032148)|activation of Ras GTPase activity (GO:0032856)|cellular response to retinoic acid (GO:0071300)|circadian rhythm (GO:0007623)|cochlea development (GO:0090102)|lens fiber cell differentiation (GO:0070306)|mechanoreceptor differentiation (GO:0042490)|modulation by virus of host transcription (GO:0019056)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell death (GO:0060548)|negative regulation of protein phosphorylation (GO:0001933)|neuron fate specification (GO:0048665)|neuron migration (GO:0001764)|neurotrophin signaling pathway (GO:0038179)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of axon extension involved in regeneration (GO:0048691)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of positive chemotaxis (GO:0050927)|protein autophosphorylation (GO:0046777)|response to axon injury (GO:0048678)|response to corticosterone (GO:0051412)|response to ethanol (GO:0045471)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|neurotrophin binding (GO:0043121)|neurotrophin receptor activity (GO:0005030)|p53 binding (GO:0002039)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)		ETV6/NTRK3(238)	breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)	119			BRCA - Breast invasive adenocarcinoma(143;0.211)			TCAATGACAGGGATGCGAGTC	0.607			T	ETV6	"congenital fibrosarcoma, Secretory breast "					TSP Lung(13;0.10)																												ENST00000394480.1				Dom	yes		15	15q25	4916	T	"neurotrophic tyrosine kinase, receptor, type 3"			"E, M"	ETV6		"congenital fibrosarcoma, Secretory breast "	ETV6/NTRK3(238)	0				breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)	119						c.(1525-1527)Cct>Tct		neurotrophic tyrosine kinase, receptor, type 3							111	78	89					15																	88576148		2201	4299	6500	SO:0001583	missense	4916				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr15:88576148G>A	U05012	CCDS10340.1, CCDS32322.1, CCDS32323.1, CCDS58399.1	15q24-q25	2013-01-11			ENSG00000140538	ENSG00000140538	2.7.10.1	"Immunoglobulin superfamily / I-set domain containing"	8033	protein-coding gene	gene with protein product		191316				7806211	Standard	NM_001012338		Approved	TRKC	uc002bme.2	Q16288	OTTHUMG00000148677	ENST00000360948.2:c.1525C>T	15.37:g.88576148G>A	ENSP00000354207:p.Pro509Ser	TSP Lung(13;0.10)				NTRK3_ENST00000540489.2_Missense_Mutation_p.P509S|NTRK3_ENST00000360948.2_Missense_Mutation_p.P509S|NTRK3_ENST00000357724.2_Missense_Mutation_p.P501S|NTRK3_ENST00000317501.3_Missense_Mutation_p.P509S|NTRK3_ENST00000558676.1_Missense_Mutation_p.P501S|NTRK3_ENST00000542733.2_Missense_Mutation_p.P411S|NTRK3_ENST00000558306.1_5'UTR|NTRK3_ENST00000557856.1_Missense_Mutation_p.P501S|NTRK3_ENST00000355254.2_Missense_Mutation_p.P509S	p.P509S	NM_001243101.1|NM_002530.3	NP_001230030.1|NP_002521.2	Q16288	NTRK3_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.211)		14	1846	-			509					B7Z4C5|E9PG56|H0YND1|O75682|Q12827|Q16289	Missense_Mutation	SNP	ENST00000360948.2	37	c.1525C>T	CCDS32322.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.980825	0.74474	.	.	ENSG00000140538	ENST00000394480;ENST00000360948;ENST00000357724;ENST00000355254;ENST00000542733;ENST00000343782;ENST00000540489;ENST00000317501	T;T;T;T;T;T;T	0.73681	-0.77;-0.72;-0.69;-0.77;-0.65;0.04;0.04	4.91	3.96	0.45880	.	0.055096	0.85682	D	0.000000	T	0.81240	0.4781	L	0.56280	1.765	0.58432	D	0.999999	D;D;D;D;D;P	0.89917	1.0;1.0;0.998;1.0;1.0;0.892	D;D;D;D;D;P	0.87578	0.996;0.996;0.954;0.996;0.998;0.719	T	0.79864	-0.1623	10	0.41790	T	0.15	.	11.0307	0.47772	0.0945:0.0:0.9055:0.0	.	411;501;501;509;509;509	B7Z7U4;E9PG56;B7Z4C5;Q96CY4;Q16288-3;Q16288	.;.;.;.;.;NTRK3_HUMAN	S	509;509;501;509;411;5;509;509	ENSP00000377990:P509S;ENSP00000354207:P509S;ENSP00000350356:P501S;ENSP00000347397:P509S;ENSP00000437773:P411S;ENSP00000444673:P509S;ENSP00000318328:P509S	ENSP00000318328:P509S	P	-	1	0	NTRK3	86377152	1.000000	0.71417	0.866000	0.34008	0.786000	0.44442	7.324000	0.79115	1.209000	0.43321	0.650000	0.86243	CCT		0.607	NTRK3-204	KNOWN	basic|CCDS	protein_coding	protein_coding				12	16	0	0	0	1	0	12	16					A	88576148	G	A	88576148	3	1	241	1	0	0	0	0	1	0	0	0	10708	1232	43	3	1284	3	NTRK3	15	88576148	Missense_Mutation	SNP	G	TCGA-HC-A631-01A-11D-A29Q-08		88576148	13955244	43	11340											
TP53	7157	broad.mit.edu	37	chr17	7577538	7577538	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgatggtgaggatgggcctcCggttcatgccgcccatgcag	6	9	15	11	2	1	2	1	2	0	0	2	3	2	3	4	4	2	2	4	4	0	1	rs11540652		TCGA-HC-A631-01A-11D-A29Q-08	TCGA-HC-A631-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5949750-2444-4081-ad78-05d4614f4467	9e26e7c1-58ba-4e1d-b9bc-bdac163f4834	g.chr17:7577538C>T	ENST00000269305.4	-	7	932	c.743G>A	c.(742-744)cGg>cAg	p.R248Q	TP53_ENST00000359597.4_Missense_Mutation_p.R248Q|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Missense_Mutation_p.R248Q|TP53_ENST00000413465.2_Missense_Mutation_p.R248Q|TP53_ENST00000420246.2_Missense_Mutation_p.R248Q|TP53_ENST00000445888.2_Missense_Mutation_p.R248Q	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	248	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Interacts with the 53BP2 SH3 domain.|Required for interaction with ZNF385A.		NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:7682763}.|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:2263646, ECO:0000269|PubMed:7682763, ECO:0000269|PubMed:7887414}.|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1978757, ECO:0000269|PubMed:8829627}.		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R248Q(580)|p.R248L(75)|p.R248P(19)|p.R155Q(18)|p.0?(8)|p.?(5)|p.R155L(3)|p.R155P(2)|p.N247_R248delNR(2)|p.R248fs*16(2)|p.M246_P250delMNRRP(2)|p.R248_P250delRRP(1)|p.unknown(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R249fs*96(1)|p.R248fs*>39(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GATGGGCCTCCGGTTCATGCC	0.572	R248Q(BL41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CA46_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(EM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(HCC1143_BREAST)|R248Q(HCC70_BREAST)|R248Q(HEC1A_ENDOMETRIUM)|R248Q(HS683_CENTRAL_NERVOUS_SYSTEM)|R248Q(HSC4_UPPER_AERODIGESTIVE_TRACT)|R248Q(KASUMI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYSE150_OESOPHAGUS)|R248Q(MOLM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NAMALWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NB4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NCIH211_LUNG)|R248Q(NCIN87_STOMACH)|R248Q(NIHOVCAR3_OVARY)|R248Q(NUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(P12ICHIKAWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(PANC0203_PANCREAS)|R248Q(PC14_LUNG)|R248Q(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(RT112_URINARY_TRACT)|R248Q(SEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SF295_CENTRAL_NERVOUS_SYSTEM)|R248Q(SKUT1_SOFT_TISSUE)|R248Q(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SW1463_LARGE_INTESTINE)|R248Q(WSUDLCL2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2	R248Q(BL41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CA46_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(EM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(HCC1143_BREAST)|R248Q(HCC70_BREAST)|R248Q(HEC1A_ENDOMETRIUM)|R248Q(HS683_CENTRAL_NERVOUS_SYSTEM)|R248Q(HSC4_UPPER_AERODIGESTIVE_TRACT)|R248Q(KASUMI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYSE150_OESOPHAGUS)|R248Q(MOLM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NAMALWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NB4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NCIH211_LUNG)|R248Q(NCIN87_STOMACH)|R248Q(NIHOVCAR3_OVARY)|R248Q(NUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(P12ICHIKAWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(PANC0203_PANCREAS)|R248Q(PC14_LUNG)|R248Q(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(RT112_URINARY_TRACT)|R248Q(SEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SF295_CENTRAL_NERVOUS_SYSTEM)|R248Q(SKUT1_SOFT_TISSUE)|R248Q(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SW1463_LARGE_INTESTINE)|R248Q(WSUDLCL2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"Mis, N, F"	tumor protein p53			"L, E, M, O"		"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"	"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"		725	Substitution - Missense(698)|Whole gene deletion(8)|Deletion - In frame(7)|Unknown(6)|Insertion - Frameshift(3)|Deletion - Frameshift(2)|Complex - compound substitution(1)	p.R248Q(580)|p.R248L(75)|p.R248P(19)|p.R155Q(18)|p.0?(8)|p.?(5)|p.R155L(3)|p.R155P(2)|p.N247_R248delNR(2)|p.R248fs*16(2)|p.M246_P250delMNRRP(2)|p.R248_P250delRRP(1)|p.unknown(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R249fs*96(1)|p.R248fs*>39(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(1)	large_intestine(138)|breast(83)|haematopoietic_and_lymphoid_tissue(74)|lung(71)|upper_aerodigestive_tract(63)|central_nervous_system(46)|oesophagus(37)|urinary_tract(37)|ovary(36)|stomach(35)|endometrium(23)|skin(18)|prostate(11)|bone(10)|biliary_tract(9)|liver(9)|pancreas(7)|vulva(3)|kidney(3)|cervix(3)|peritoneum(2)|thyroid(2)|soft_tissue(1)|pituitary(1)|adrenal_gland(1)|small_intestine(1)|thymus(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185	GRCh37	CM920675	TP53	M	rs11540652	c.(742-744)cGg>cAg	Other conserved DNA damage response genes	tumor protein p53		C	GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG	0,4406		0,0,2203	152	112	126	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	743,743,743,743,347,347,347	3.7	1	17	dbSNP_120	126	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense,missense,missense,missense	TP53	NM_000546.4,NM_001126112.1,NM_001126113.1,NM_001126114.1,NM_001126115.1,NM_001126116.1,NM_001126117.1	43,43,43,43,43,43,43	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	248/394,248/394,248/347,248/342,116/262,116/210,116/215	7577538	1,13005	2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577538C>T	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"Li-Fraumeni syndrome"	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.743G>A	17.37:g.7577538C>T	ENSP00000269305:p.Arg248Gln	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_ENST00000445888.2_Missense_Mutation_p.R248Q|TP53_ENST00000359597.4_Missense_Mutation_p.R248Q|TP53_ENST00000269305.4_Missense_Mutation_p.R248Q|TP53_ENST00000455263.2_Missense_Mutation_p.R248Q|TP53_ENST00000413465.2_Missense_Mutation_p.R248Q	p.R248Q	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	7	875	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	248		NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652).|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.743G>A	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	27.3	4.822907	0.90873	0.0	1.16E-4	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99864	-7.28;-7.28;-7.28;-7.28;-7.28;-7.28;-7.28;-7.28	4.62	3.65	0.41850	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99840	0.9927	M	0.88640	2.97	0.58432	A	0.999994	D;D;D;D;D;D	0.89917	1.0;0.994;1.0;1.0;1.0;1.0	D;P;D;D;D;D	0.91635	0.996;0.882;0.999;0.995;0.996;0.995	D	0.96819	0.9602	9	0.72032	D	0.01	-9.5643	10.6687	0.45745	0.0:0.9059:0.0:0.0941	rs11540652;rs11540652	248;248;155;248;248;248	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	Q	248;248;248;248;248;248;237;155;116;155	ENSP00000410739:R248Q;ENSP00000352610:R248Q;ENSP00000269305:R248Q;ENSP00000398846:R248Q;ENSP00000391127:R248Q;ENSP00000391478:R248Q;ENSP00000425104:R116Q;ENSP00000423862:R155Q	ENSP00000269305:R248Q	R	-	2	0	TP53	7518263	1.000000	0.71417	1.000000	0.80357	0.887000	0.51463	5.884000	0.69729	1.305000	0.44909	0.462000	0.41574	CGG		0.572	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		31	8	0	0	0	1	0	31	8					T	7577538	C	T	7577538	3	4	241	1	0	0	0	0	1	0	0	0	16378	652	23	2	547	2	TP53	17	7577538	Missense_Mutation	SNP	C	TCGA-HC-A631-01A-11D-A29Q-08		7577538	73617672	44	11341											
RFFL	117584	broad.mit.edu	37	chr17	33341759	33341759	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aaacagaaacaactacatacCgttttggtcttcggcaccac	14	9	6	12	2	1	1	0	0	1	1	2	1	1	1	2	2	5	2	2	2	5	5			TCGA-HC-A631-01A-11D-A29Q-08	TCGA-HC-A631-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5949750-2444-4081-ad78-05d4614f4467	9e26e7c1-58ba-4e1d-b9bc-bdac163f4834	g.chr17:33341759C>T	ENST00000315249.7	-	6	1132	c.910G>A	c.(910-912)Ggg>Agg	p.G304R	RFFL_ENST00000413582.2_Intron|RFFL_ENST00000415395.2_Splice_Site_p.G304R|RAD51L3-RFFL_ENST00000593039.1_Intron|RFFL_ENST00000584655.1_Intron|RFFL_ENST00000394597.2_Splice_Site_p.G304R|RFFL_ENST00000378516.2_Intron|RFFL_ENST00000447669.2_Splice_Site_p.G304R|RFFL_ENST00000268850.7_Intron					ring finger and FYVE-like domain containing E3 ubiquitin protein ligase											kidney(1)|large_intestine(2)|lung(3)	6		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0227)		AACTACATACCGTTTTGGTCT	0.438																																						ENST00000315249.7																			0				kidney(1)|large_intestine(2)|lung(3)	6						c.e6+1		ring finger and FYVE-like domain containing E3 ubiquitin protein ligase							189	165	173					17																	33341759		2203	4300	6503	SO:0001630	splice_region_variant	117584				apoptosis	membrane	ligase activity|zinc ion binding	g.chr17:33341759C>T	AF434816	CCDS11286.1	17q12	2012-02-23	2012-02-23		ENSG00000092871	ENSG00000092871		"RING-type (C3HC4) zinc fingers"	24821	protein-coding gene	gene with protein product		609735	"ring finger and FYVE-like domain containing"			15229288	Standard	NR_037713		Approved	rififylin, fring, RNF189, RNF34L	uc002hin.1	Q8WZ73	OTTHUMG00000132933	ENST00000315249.7:c.910+1G>A	17.37:g.33341759C>T						RFFL_ENST00000584655.1_Intron|RFFL_ENST00000447669.2_Splice_Site_p.G304_splice|RFFL_ENST00000413582.2_Intron|RFFL_ENST00000394597.2_Splice_Site_p.G304_splice|RFFL_ENST00000378516.2_Intron|RAD51L3-RFFL_ENST00000593039.1_Intron|RFFL_ENST00000415395.2_Splice_Site_p.G304_splice|RFFL_ENST00000268850.7_Intron	p.G304_splice			Q8WZ73	RFFL_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0227)	6	1132	-		Ovarian(249;0.17)	304						Splice_Site	SNP	ENST00000315249.7	37	c.910_splice	CCDS11286.1	.	.	.	.	.	.	.	.	.	.	C	13.88	2.370499	0.42003	.	.	ENSG00000092871	ENST00000315249;ENST00000394597	T;T	0.45276	0.9;0.9	4.96	3.98	0.46160	.	0.208183	0.50627	D	0.000115	T	0.23806	0.0576	N	0.12182	0.205	0.80722	D	1	B	0.14805	0.011	B	0.11329	0.006	T	0.05338	-1.0891	9	.	.	.	-13.015	12.2588	0.54638	0.1698:0.8302:0.0:0.0	.	304	Q8WZ73	RFFL_HUMAN	R	304	ENSP00000326170:G304R;ENSP00000378096:G304R	.	G	-	1	0	RFFL	30365872	0.991000	0.36638	0.942000	0.38095	0.983000	0.72400	1.439000	0.35013	1.433000	0.47394	0.655000	0.94253	GGG		0.438	RFFL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256460.2	NM_057178	Missense_Mutation	44	63	0	0	0	1	0	44	63					T	33341759	C	T	33341759	5	4	241	1	0	0	0	0	0	0	1	0	13250	666	23	2	189	2	RFFL	17	33341759	Splice_Site	SNP	C	TCGA-HC-A631-01A-11D-A29Q-08	25764221	33341759	47853451	45	11342											
ITGA3	3675	broad.mit.edu	37	chr17	48151325	48151325	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggcttgggcaaagtgtacaTctatcacagtagctctaagg	12	10	11	8	0	3	0	1	0	2	0	3	0	3	0	0	3	2	5	0	3	5	5			TCGA-HC-A631-01A-11D-A29Q-08	TCGA-HC-A631-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5949750-2444-4081-ad78-05d4614f4467	9e26e7c1-58ba-4e1d-b9bc-bdac163f4834	g.chr17:48151325T>A	ENST00000320031.8	+	8	1532	c.1202T>A	c.(1201-1203)aTc>aAc	p.I401N	ITGA3_ENST00000544892.1_Missense_Mutation_p.I176N|ITGA3_ENST00000007722.7_Missense_Mutation_p.I401N	NM_002204.2|NM_005501.2	NP_002195.1|NP_005492.1	P26006	ITA3_HUMAN	integrin, alpha 3 (antigen CD49C, alpha 3 subunit of VLA-3 receptor)	401					blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|lung development (GO:0030324)|maternal process involved in female pregnancy (GO:0060135)|memory (GO:0007613)|mesodermal cell differentiation (GO:0048333)|negative regulation of cell projection organization (GO:0031345)|nephron development (GO:0072006)|neuron migration (GO:0001764)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron projection development (GO:0010976)|regulation of BMP signaling pathway (GO:0030510)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|regulation of Wnt signaling pathway (GO:0030111)|renal filtration (GO:0097205)|response to drug (GO:0042493)|response to gonadotropin (GO:0034698)|skin development (GO:0043588)	basolateral plasma membrane (GO:0016323)|cell periphery (GO:0071944)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|integrin alpha3-beta1 complex (GO:0034667)|integrin complex (GO:0008305)|invadopodium membrane (GO:0071438)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|synapse (GO:0045202)	glycoprotein binding (GO:0001948)|metal ion binding (GO:0046872)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)			endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)	31						AAAGTGTACATCTATCACAGT	0.577																																						ENST00000320031.8																			0				endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)	31						c.(1201-1203)aTc>aAc		integrin, alpha 3 (antigen CD49C, alpha 3 subunit of VLA-3 receptor)							110	108	108					17																	48151325		2203	4300	6503	SO:0001583	missense	3675				blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|leukocyte migration	cell surface|integrin complex	protein binding|receptor activity	g.chr17:48151325T>A	M59911	CCDS11557.1, CCDS11558.1	17q21.33	2010-03-23	2003-10-13		ENSG00000005884	ENSG00000005884		"CD molecules", "Integrins"	6139	protein-coding gene	gene with protein product		605025	"antigen identified by monoclonal antibody J143"	MSK18		1655803, 9704023	Standard	NM_005501		Approved	CD49c, VLA3a, VCA-2, GAP-B3	uc010dbm.3	P26006	OTTHUMG00000161890	ENST00000320031.8:c.1202T>A	17.37:g.48151325T>A	ENSP00000315190:p.Ile401Asn					ITGA3_ENST00000544892.1_Missense_Mutation_p.I176N|ITGA3_ENST00000007722.7_Missense_Mutation_p.I401N	p.I401N	NM_002204.2|NM_005501.2	NP_002195.1|NP_005492.1	P26006	ITA3_HUMAN			8	1532	+			401					A7E246|B7ZM80|B9EGQ1|D3DTX4|D3DTX5	Missense_Mutation	SNP	ENST00000320031.8	37	c.1202T>A	CCDS11558.1	.	.	.	.	.	.	.	.	.	.	T	22.4	4.280593	0.80692	.	.	ENSG00000005884	ENST00000544892;ENST00000007722;ENST00000538917;ENST00000320031	T;T;T	0.74526	-0.85;2.33;2.33	5.97	5.97	0.96955	.	0.000000	0.85682	D	0.000000	D	0.90045	0.6891	H	0.96269	3.795	0.58432	D	0.999993	D;D	0.76494	0.983;0.999	P;D	0.65987	0.813;0.94	D	0.92995	0.6418	10	0.87932	D	0	.	15.433	0.75116	0.0:0.0:0.0:1.0	.	401;401	P26006-1;P26006	.;ITA3_HUMAN	N	176;401;387;401	ENSP00000446133:I176N;ENSP00000007722:I401N;ENSP00000315190:I401N	ENSP00000007722:I401N	I	+	2	0	ITGA3	45506324	1.000000	0.71417	1.000000	0.80357	0.587000	0.36485	7.686000	0.84128	2.288000	0.76882	0.533000	0.62120	ATC		0.577	ITGA3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000366298.1	NM_005501		25	40	0	0	0	1	0	25	40					A	48151325	T	A	48151325	3	1	241	1	0	0	0	0	1	0	0	0	7877	1435	50	5	1232	5	ITGA3	17	48151325	Missense_Mutation	SNP	T	TCGA-HC-A631-01A-11D-A29Q-08	14809566	48151325	33043885	46	11343											
SPIRE1	56907	broad.mit.edu	37	chr18	12463458	12463458	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ggctgccgtctctctggctgGggtgttgatgatatgggcag	4	12	17	8	1	2	2	0	2	2	0	3	2	2	2	1	5	1	4	1	5	1	2			TCGA-HC-A631-01A-11D-A29Q-08	TCGA-HC-A631-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5949750-2444-4081-ad78-05d4614f4467	9e26e7c1-58ba-4e1d-b9bc-bdac163f4834	g.chr18:12463458G>T	ENST00000409402.4	-	12	1797	c.1530C>A	c.(1528-1530)ccC>ccA	p.P510P	SPIRE1_ENST00000410092.3_Silent_p.P496P|SPIRE1_ENST00000464481.1_5'UTR|SPIRE1_ENST00000383356.2_Silent_p.P337P|SPIRE1_ENST00000309836.5_Silent_p.P299P|SPIRE1_ENST00000453447.2_Silent_p.P376P	NM_001128626.1	NP_001122098.1			spire-type actin nucleation factor 1											breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)	28						TCTCTGGCTGGGGTGTTGATG	0.458																																						ENST00000409402.4																			0				breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)	28						c.(1528-1530)ccC>ccA		spire-type actin nucleation factor 1							96	92	93					18																	12463458		2203	4300	6503	SO:0001819	synonymous_variant	56907					cytoskeleton|perinuclear region of cytoplasm	actin binding	g.chr18:12463458G>T	AL833817	CCDS32790.2, CCDS45829.1, CCDS45830.1	18p11.21	2013-08-27	2013-08-27		ENSG00000134278	ENSG00000134278			30622	protein-coding gene	gene with protein product		609216	"spire homolog 1 (Drosophila)", "spire family actin nucleation factor 1"			10574461, 11747823	Standard	NM_001128626		Approved	spir-1, KIAA1135	uc002kre.3	Q08AE8	OTTHUMG00000153940	ENST00000409402.4:c.1530C>A	18.37:g.12463458G>T						SPIRE1_ENST00000410092.3_Silent_p.P496P|SPIRE1_ENST00000309836.5_Silent_p.P299P|SPIRE1_ENST00000464481.1_5'UTR|SPIRE1_ENST00000383356.2_Silent_p.P337P|SPIRE1_ENST00000453447.2_Silent_p.P376P	p.P510P	NM_001128626.1	NP_001122098.1	Q08AE8	SPIR1_HUMAN			12	1797	-			510						Silent	SNP	ENST00000409402.4	37	c.1530C>A	CCDS45829.1																																																																																				0.458	SPIRE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333109.2	XM_290818		5	45	1	0	1.024e-07	1	1.072e-07	5	45					T	12463458	G	T	12463458	2	4	241	1	0	0	0	0	0	0	0	1	15070	1219	43	5		5	SPIRE1	18	12463458	Silent	SNP	G	TCGA-HC-A631-01A-11D-A29Q-08		12463458	65613790	47	11344											
LPPR3	79948	broad.mit.edu	37	chr19	815827	815828	+	Frame_Shift_Ins	INS	-	-	G																															tccaggaagtacaaggatacINSgatggaagaagccactatgg																										TCGA-HC-A631-01A-11D-A29Q-08	TCGA-HC-A631-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5949750-2444-4081-ad78-05d4614f4467	9e26e7c1-58ba-4e1d-b9bc-bdac163f4834	g.chr19:815827_815828insG	ENST00000520876.3	-	3	177_178	c.99_100insC	c.(97-102)atcgtafs	p.V34fs	LPPR3_ENST00000359894.2_Frame_Shift_Ins_p.V34fs|MIR3187_ENST00000583431.1_RNA	NM_001270366.1	NP_001257295.1	Q6T4P5	LPPR3_HUMAN		34						integral component of membrane (GO:0016021)	phosphatidate phosphatase activity (GO:0008195)										TACAAGGATACGATGGAAGAAG	0.599																																						ENST00000359894.2																			0											c.(97-102)attatcfs																																						SO:0001589	frameshift_variant	0					integral to membrane	phosphatidate phosphatase activity	g.chr19:815827_815828insG																												ENST00000520876.3:c.100dupC	19.37:g.815828_815828dupG	ENSP00000430297:p.Val34fs					LPPR3_ENST00000520876.3_Frame_Shift_Ins_p.I34fs	p.I34fs	NM_024888.2	NP_079164.1	Q6T4P5	LPPR3_HUMAN			3	162_163	-			34					Q86XQ4|Q96EH1|Q9BQF9|Q9HAJ4	Frame_Shift_Ins	INS	ENST00000520876.3	37	c.99_100insC	CCDS58636.1																																																																																				0.599	LPPR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379096.3			31	22						31	22	---	---	---	---	G	815828	-	G	815827	7	5	241	1	0	1	1	0	0	0	0	0	8926	536	19	0	2160	0	LPPR3	19	815827	Frame_Shift_Ins	INS	-	TCGA-HC-A631-01A-11D-A29Q-08		815827	58313156	48	11345											
MAG	4099	broad.mit.edu	37	chr19	35800810	35800810	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcctggagtcccactgcgCggcagcccgagacacggtgc	6	5	13	17	4	0	1	0	0	0	1	2	3	2	2	4	3	3	1	4	3	0	0			TCGA-HC-A631-01A-11D-A29Q-08	TCGA-HC-A631-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5949750-2444-4081-ad78-05d4614f4467	9e26e7c1-58ba-4e1d-b9bc-bdac163f4834	g.chr19:35800810C>T	ENST00000392213.3	+	8	1424	c.1265C>T	c.(1264-1266)gCg>gTg	p.A422V	MAG_ENST00000537831.2_Missense_Mutation_p.A397V|MAG_ENST00000361922.4_Missense_Mutation_p.A422V|MAG_ENST00000593348.1_3'UTR	NM_002361.3	NP_002352.1	P20916	MAG_HUMAN	myelin associated glycoprotein	422	Ig-like C2-type 4.				blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|leukocyte migration (GO:0050900)|negative regulation of axonogenesis (GO:0050771)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of axonogenesis (GO:0050770)|substantia nigra development (GO:0021762)	integral component of membrane (GO:0016021)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|Schmidt-Lanterman incisure (GO:0043220)	carbohydrate binding (GO:0030246)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(11)|skin(2)|upper_aerodigestive_tract(2)	34	all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162)	Renal(1328;0.242)	Epithelial(14;3.14e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.5e-18)|all cancers(14;1.5e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)			TCCCACTGCGCGGCAGCCCGA	0.677																																						ENST00000361922.4																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(11)|skin(2)|upper_aerodigestive_tract(2)	34						c.(1264-1266)gCg>gTg		myelin associated glycoprotein							66	72	70					19																	35800810		2203	4298	6501	SO:0001583	missense	4099				blood coagulation|cell adhesion|leukocyte migration|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway	integral to membrane|plasma membrane	sugar binding	g.chr19:35800810C>T	M29273	CCDS12455.1, CCDS12456.1, CCDS56090.1	19q13.1	2013-01-29			ENSG00000105695	ENSG00000105695		"Sialic acid binding Ig-like lectins", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6783	protein-coding gene	gene with protein product	"sialic acid binding Ig-like lectin 4A"	159460		GMA		2476987, 8432525	Standard	NM_080600		Approved	SIGLEC4A, SIGLEC-4A, S-MAG	uc002nyy.2	P20916		ENST00000392213.3:c.1265C>T	19.37:g.35800810C>T	ENSP00000376048:p.Ala422Val					MAG_ENST00000392213.3_Missense_Mutation_p.A422V|MAG_ENST00000593348.1_3'UTR|MAG_ENST00000537831.2_Missense_Mutation_p.A397V	p.A422V	NM_080600.2	NP_542167.1	P20916	MAG_HUMAN	Epithelial(14;3.14e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.5e-18)|all cancers(14;1.5e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)		8	1415	+	all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162)	Renal(1328;0.242)	422			Ig-like C2-type 4.		B7Z2E5|F5GYC0|Q567S4	Missense_Mutation	SNP	ENST00000392213.3	37	c.1265C>T	CCDS12455.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.062838	0.76187	.	.	ENSG00000105695	ENST00000262624;ENST00000361922;ENST00000392213;ENST00000537831	T;T;T	0.13196	2.61;2.61;2.61	5.33	5.33	0.75918	.	0.055575	0.64402	D	0.000001	T	0.06234	0.0161	N	0.14661	0.345	0.42430	D	0.992675	P;P;P	0.49559	0.907;0.87;0.925	B;B;B	0.33521	0.165;0.089;0.146	T	0.25012	-1.0144	10	0.02654	T	1	.	16.4987	0.84252	0.0:1.0:0.0:0.0	.	459;422;422	Q59GD9;P20916;Q567S4	.;MAG_HUMAN;.	V	459;422;422;397	ENSP00000355234:A422V;ENSP00000376048:A422V;ENSP00000440695:A397V	ENSP00000262624:A459V	A	+	2	0	MAG	40492650	0.977000	0.34250	0.643000	0.29450	0.960000	0.62799	5.366000	0.66122	2.497000	0.84241	0.462000	0.41574	GCG		0.677	MAG-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000466071.1	NM_080600		5	201	0	0	0	1	0	5	201					T	35800810	C	T	35800810	3	4	241	1	0	0	0	0	1	0	0	0	9162	768	27	1	1287	1	MAG	19	35800810	Missense_Mutation	SNP	C	TCGA-HC-A631-01A-11D-A29Q-08	34984983	35800810	23328173	49	11346											
NOVA2	4858	broad.mit.edu	37	chr19	46443285	46443285	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cttcttggagatctggatgcGagcgcccgtcagctcctggt	5	11	13	12	3	3	1	1	0	2	1	4	4	4	2	2	3	3	1	2	3	0	2			TCGA-HC-A631-01A-11D-A29Q-08	TCGA-HC-A631-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5949750-2444-4081-ad78-05d4614f4467	9e26e7c1-58ba-4e1d-b9bc-bdac163f4834	g.chr19:46443285G>A	ENST00000263257.5	-	4	1509	c.1315C>T	c.(1315-1317)Cgc>Tgc	p.R439C		NM_002516.2	NP_002507.1	Q9UNW9	NOVA2_HUMAN	neuro-oncological ventral antigen 2	439	KH 3. {ECO:0000255|PROSITE- ProRule:PRU00117}.				regulation of RNA metabolic process (GO:0051252)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(3)|large_intestine(5)|lung(13)	21		all_neural(266;0.113)|Ovarian(192;0.127)		OV - Ovarian serous cystadenocarcinoma(262;0.00245)|GBM - Glioblastoma multiforme(486;0.0782)|Epithelial(262;0.179)		ATCTGGATGCGAGCGCCCGTC	0.657																																						ENST00000263257.5																			0				endometrium(3)|large_intestine(5)|lung(13)	21						c.(1315-1317)Cgc>Tgc		neuro-oncological ventral antigen 2							107	109	108					19																	46443285		2203	4300	6503	SO:0001583	missense	4858					nucleus	RNA binding	g.chr19:46443285G>A	U70477	CCDS12679.1	19q13.3	2008-07-17				ENSG00000104967			7887	protein-coding gene	gene with protein product	"neuro-oncological ventral antigen 3"	601991		NOVA3		9344654, 10368286	Standard	NM_002516		Approved	ANOVA	uc002pdv.2	Q9UNW9		ENST00000263257.5:c.1315C>T	19.37:g.46443285G>A	ENSP00000263257:p.Arg439Cys						p.R439C	NM_002516.2	NP_002507.1	Q9UNW9	NOVA2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00245)|GBM - Glioblastoma multiforme(486;0.0782)|Epithelial(262;0.179)	4	1509	-		all_neural(266;0.113)|Ovarian(192;0.127)	439			KH 3.		O43267|Q9UEA1	Missense_Mutation	SNP	ENST00000263257.5	37	c.1315C>T	CCDS12679.1	.	.	.	.	.	.	.	.	.	.	G	16.18	3.048911	0.55110	.	.	ENSG00000104967	ENST00000263257	T	0.33654	1.4	3.17	2.09	0.27110	K Homology (1);K Homology, type 1, subgroup (1);K Homology, type 1 (1);	0.000000	0.85682	D	0.000000	T	0.56093	0.1962	M	0.88450	2.955	0.54753	D	0.999982	P	0.47034	0.889	P	0.55222	0.771	T	0.62358	-0.6871	10	0.72032	D	0.01	-2.895	10.1545	0.42814	0.0:0.2059:0.794:0.0	.	439	Q9UNW9	NOVA2_HUMAN	C	439	ENSP00000263257:R439C	ENSP00000263257:R439C	R	-	1	0	NOVA2	51135125	1.000000	0.71417	1.000000	0.80357	0.922000	0.55478	1.753000	0.38359	0.680000	0.31366	0.306000	0.20318	CGC		0.657	NOVA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437210.2	NM_002516		20	207	0	0	0	1	0	20	207					A	46443285	G	A	46443285	3	1	241	1	0	0	0	0	1	0	0	0	10555	1058	37	2	167	2	NOVA2	19	46443285	Missense_Mutation	SNP	G	TCGA-HC-A631-01A-11D-A29Q-08	10642475	46443285	12685698	50	11347											
KIR3DL1	3811	broad.mit.edu	37	chr19	55341599	55341599	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	aggtgacatacgcacagttgGatcactgcgttttcacacag	11	10	10	10	2	2	1	2	1	0	0	2	2	2	2	0	2	2	3	0	2	1	4	rs201105125	byFrequency	TCGA-HC-A631-01A-11D-A29Q-08	TCGA-HC-A631-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5949750-2444-4081-ad78-05d4614f4467	9e26e7c1-58ba-4e1d-b9bc-bdac163f4834	g.chr19:55341599G>A	ENST00000391728.4	+	9	1237	c.1204G>A	c.(1204-1206)Gat>Aat	p.D402N	KIR3DL1_ENST00000402254.2_Intron|KIR3DL1_ENST00000358178.4_Missense_Mutation_p.D307N|KIR3DL1_ENST00000538269.1_Missense_Mutation_p.D402N|KIR3DL1_ENST00000326542.7_Missense_Mutation_p.D385N|KIR2DS4_ENST00000339924.8_RNA|KIR3DL1_ENST00000541392.1_Missense_Mutation_p.D385N	NM_013289.2	NP_037421.2	P43629	KI3L1_HUMAN	killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1	402					immune response (GO:0006955)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	HLA-B specific inhibitory MHC class I receptor activity (GO:0030109)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	11				GBM - Glioblastoma multiforme(193;0.0192)		CGCACAGTTGGATCACTGCGT	0.512													.|||	12	0.00239617	0.0038	0.0014	5008	,	,		15574	0		0.005	False		,,,				2504	0.001					ENST00000391728.4																			0				breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	11						c.(1204-1206)Gat>Aat		killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1							269	244	253					19																	55341599		2171	4171	6342	SO:0001583	missense	3811							g.chr19:55341599G>A	L41269	CCDS42621.1	19q13.4	2014-05-22			ENSG00000167633	ENSG00000167633		"Killer cell immunoglobulin-like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6338	protein-coding gene	gene with protein product		604946		KIR		7716543, 7749980	Standard	NM_013289		Approved	cl-2, NKB1, cl-11, nkat3, NKB1B, AMB11, CD158e1/2, CD158E1, CD158e2		P43629	OTTHUMG00000065933	ENST00000391728.4:c.1204G>A	19.37:g.55341599G>A	ENSP00000375608:p.Asp402Asn					KIR3DL1_ENST00000358178.4_Missense_Mutation_p.D307N|KIR3DL1_ENST00000402254.2_Intron|KIR3DL1_ENST00000541392.1_Missense_Mutation_p.D385N|KIR3DL1_ENST00000538269.1_Missense_Mutation_p.D402N|KIR3DL1_ENST00000326542.7_Missense_Mutation_p.D385N	p.D402N	NM_013289.2	NP_037421.2				GBM - Glioblastoma multiforme(193;0.0192)	9	1237	+								O43473|Q14946|Q16541	Missense_Mutation	SNP	ENST00000391728.4	37	c.1204G>A	CCDS42621.1	.	.	.	.	.	.	.	.	.	.	-	4.019	0.000930	0.07819	.	.	ENSG00000167633	ENST00000538269;ENST00000541392;ENST00000355608;ENST00000391728;ENST00000326542;ENST00000358178	T;T;T;T;T	0.00470	7.3;7.2;7.3;7.2;7.28	0.719	-0.453	0.12201	.	.	.	.	.	T	0.00300	0.0009	L	0.31476	0.935	0.09310	N	1	B;B;B	0.10296	0.003;0.003;0.003	B;B;B	0.14578	0.011;0.008;0.007	T	0.35051	-0.9804	8	0.42905	T	0.14	.	.	.	.	.	385;307;402	Q15702;Q14946;P43629	.;.;KI3L1_HUMAN	N	402;385;380;402;385;307	ENSP00000443350:D402N;ENSP00000442355:D385N;ENSP00000375608:D402N;ENSP00000326868:D385N;ENSP00000350901:D307N	ENSP00000326868:D385N	D	+	1	0	KIR3DL1	60033411	0.003000	0.15002	0.001000	0.08648	0.025000	0.11179	0.526000	0.22971	-0.130000	0.11599	0.184000	0.17185	GAT		0.512	KIR3DL1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000141238.1	NM_013289		5	332	0	0	0	1	0	5	332					A	55341599	G	A	55341599	3	1	241	1	0	0	0	0	1	0	0	0	8320	1174	41	3	1238	3	KIR3DL1	19	55341599	Missense_Mutation	SNP	G	TCGA-HC-A631-01A-11D-A29Q-08	8898314	55341599	3787384	51	11348											
ZNF134	7693	broad.mit.edu	37	chr19	58132424	58132424	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atgagagtattcacactggaGaaaatccttatgattgcagt	14	12	9	6	0	1	3	1	2	0	2	2	5	2	3	1	1	1	2	1	1	4	4			TCGA-HC-A631-01A-11D-A29Q-08	TCGA-HC-A631-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5949750-2444-4081-ad78-05d4614f4467	9e26e7c1-58ba-4e1d-b9bc-bdac163f4834	g.chr19:58132424G>A	ENST00000396161.5	+	3	1247	c.937G>A	c.(937-939)Gaa>Aaa	p.E313K		NM_003435.3	NP_003426.3	P52741	ZN134_HUMAN	zinc finger protein 134	313					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(3)|prostate(1)	11		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0265)		TCACACTGGAGAAAATCCTTA	0.423																																						ENST00000396161.5																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(3)|prostate(1)	11						c.(937-939)Gaa>Aaa		zinc finger protein 134							127	131	130					19																	58132424		2201	4300	6501	SO:0001583	missense	7693					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:58132424G>A	U09412	CCDS42638.1	19q13.4	2013-01-08	2006-06-13			ENSG00000213762		"Zinc fingers, C2H2-type"	12918	protein-coding gene	gene with protein product		604076	"zinc finger protein 134 (clone pHZ-15)"			7557990	Standard	NM_003435		Approved	pHZ-15	uc002qpn.2	P52741		ENST00000396161.5:c.937G>A	19.37:g.58132424G>A	ENSP00000379464:p.Glu313Lys						p.E313K	NM_003435.3	NP_003426.3	P52741	ZN134_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0265)	3	1247	+		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156)	313					Q9Y4B2	Missense_Mutation	SNP	ENST00000396161.5	37	c.937G>A	CCDS42638.1	.	.	.	.	.	.	.	.	.	.	G	25.5	4.648057	0.87958	.	.	ENSG00000213762	ENST00000418193;ENST00000541849;ENST00000396161	T	0.24350	1.86	4.45	4.45	0.53987	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.37999	0.1024	L	0.37697	1.125	0.37605	D	0.920718	D	0.63046	0.992	P	0.60286	0.872	T	0.39121	-0.9629	9	0.62326	D	0.03	.	16.3388	0.83075	0.0:0.0:1.0:0.0	.	313	P52741	ZN134_HUMAN	K	380;233;313	ENSP00000379464:E313K	ENSP00000379464:E313K	E	+	1	0	ZNF134	62824236	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.808000	0.62583	2.458000	0.83093	0.561000	0.74099	GAA		0.423	ZNF134-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466808.1	NM_003435		88	98	0	0	0	1	0	88	98					A	58132424	G	A	58132424	3	1	241	1	0	0	0	0	1	0	0	0	17721	943	33	3	943	3	ZNF134	19	58132424	Missense_Mutation	SNP	G	TCGA-HC-A631-01A-11D-A29Q-08	2790825	58132424	996559	52	11349											
GNAS	2778	broad.mit.edu	37	chr20	57415456	57415456	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	accttgagctgtccctccccGagtgcctagagtacgaggaa	9	8	11	13	2	0	2	0	1	0	1	2	5	2	3	5	1	3	2	5	1	3	3			TCGA-HC-A631-01A-11D-A29Q-08	TCGA-HC-A631-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5949750-2444-4081-ad78-05d4614f4467	9e26e7c1-58ba-4e1d-b9bc-bdac163f4834	g.chr20:57415456G>C	ENST00000313949.7	+	1	684	c.295G>C	c.(295-297)Gag>Cag	p.E99Q	GNAS-AS1_ENST00000443966.1_RNA|GNAS-AS1_ENST00000424094.2_RNA|GNAS_ENST00000371075.3_Missense_Mutation_p.E99Q|GNAS_ENST00000371098.2_Missense_Mutation_p.E99Q|GNAS-AS1_ENST00000598163.1_RNA			P63092	GNAS2_HUMAN	GNAS complex locus	0			L -> P (in AHO). {ECO:0000269|PubMed:8388883}.		activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-activating adrenergic receptor signaling pathway (GO:0071880)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|blood coagulation (GO:0007596)|bone development (GO:0060348)|cAMP biosynthetic process (GO:0006171)|cellular response to catecholamine stimulus (GO:0071870)|cellular response to glucagon stimulus (GO:0071377)|cellular response to prostaglandin E stimulus (GO:0071380)|cognition (GO:0050890)|developmental growth (GO:0048589)|energy reserve metabolic process (GO:0006112)|hair follicle placode formation (GO:0060789)|intracellular transport (GO:0046907)|platelet aggregation (GO:0070527)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of Ras GTPase activity (GO:0032320)|regulation of insulin secretion (GO:0050796)|sensory perception of smell (GO:0007608)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|intrinsic component of membrane (GO:0031224)|membrane (GO:0016020)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)	adenylate cyclase activity (GO:0004016)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)			adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1)	441	all_lung(29;0.0104)		BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)			GTCCCTCCCCGAGTGCCTAGA	0.622			Mis		pituitary adenoma		"McCune-Albright syndrome; pseudohypoparathyroidism, type IA"			TSP Lung(22;0.16)																											Colon(117;935 1597 6045 8307 46442)	ENST00000313949.7				Dom	yes		20	20q13.2	2778	Mis	"guanine nucleotide binding protein (G protein), alpha stimulating activity polypeptide 1"	yes	"McCune-Albright syndrome; pseudohypoparathyroidism, type IA"	E			pituitary adenoma		0				adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1)	441						c.(295-297)Gag>Cag		GNAS complex locus							73	76	75					20																	57415456		2203	4300	6503	SO:0001583	missense	2778				activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport	heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane	adenylate cyclase activity|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity	g.chr20:57415456G>C	M21142	CCDS13471.1, CCDS13472.1, CCDS42892.1, CCDS46622.1, CCDS46623.1, CCDS46624.1	20q13.2-q13.3	2010-03-01	2001-12-19	2001-12-20	ENSG00000087460	ENSG00000087460			4392	protein-coding gene	gene with protein product	"secretogranin VI"	139320	"guanine nucleotide binding protein (G protein), alpha stimulating activity polypeptide 1"	GNAS1			Standard	NM_000516		Approved	NESP55, NESP, GNASXL, GPSA, SCG6	uc002xzw.3	O95467	OTTHUMG00000033069	ENST00000313949.7:c.295G>C	20.37:g.57415456G>C	ENSP00000323571:p.Glu99Gln	TSP Lung(22;0.16)				GNAS_ENST00000371098.2_Missense_Mutation_p.E99Q|GNAS_ENST00000371075.3_Missense_Mutation_p.E99Q|GNAS-AS1_ENST00000443966.1_RNA|GNAS-AS1_ENST00000424094.2_RNA|GNAS-AS1_ENST00000598163.1_RNA	p.E99Q			P63092	GNAS2_HUMAN	BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)		1	684	+	all_lung(29;0.0104)		101		L -> P (in AHO).			A6NI00|E1P5G5|P04895|Q12927|Q14433|Q32P26|Q5JWD2|Q5JWD4|Q5JWD5|Q6NR75|Q6NXS0|Q8TBC0|Q96H70	Missense_Mutation	SNP	ENST00000313949.7	37	c.295G>C	CCDS13471.1	.	.	.	.	.	.	.	.	.	.	G	14.09	2.433121	0.43224	.	.	ENSG00000087460	ENST00000313949;ENST00000371098;ENST00000371075;ENST00000453292	.	.	.	4.36	3.31	0.37934	.	.	.	.	.	T	0.52191	0.1719	N	0.24115	0.695	0.80722	D	1	D	0.69078	0.997	D	0.63957	0.92	T	0.48068	-0.9067	8	0.41790	T	0.15	.	9.4662	0.38813	0.0:0.2169:0.7831:0.0	.	99	O95467	GNAS3_HUMAN	Q	99;99;99;20	.	ENSP00000323571:E99Q	E	+	1	0	GNAS	56848851	1.000000	0.71417	0.996000	0.52242	0.579000	0.36224	2.572000	0.45999	2.375000	0.81037	0.585000	0.79938	GAG		0.622	GNAS-002	KNOWN	NMD_exception|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000080418.7	NM_000516		4	119	0	0	0	1	0	4	119					C	57415456	G	C	57415456	3	2	241	1	0	0	0	0	1	0	0	0	6510	1059	37	5	297	5	GNAS	20	57415456	Missense_Mutation	SNP	G	TCGA-HC-A631-01A-11D-A29Q-08		57415456	5610064	53	11350											
COL6A1	1291	broad.mit.edu	37	chr21	47410706	47410706	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gggggagatggggtacccagGcctgccaggctgcaagggct	7	5	19	10	0	0	1	0	0	0	1	0	2	0	1	3	7	3	4	3	7	2	1	rs121912935|rs398123630		TCGA-HC-A631-01A-11D-A29Q-08	TCGA-HC-A631-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5949750-2444-4081-ad78-05d4614f4467	9e26e7c1-58ba-4e1d-b9bc-bdac163f4834	g.chr21:47410706G>A	ENST00000361866.3	+	14	1136	c.1022G>A	c.(1021-1023)gGc>gAc	p.G341D		NM_001848.2	NP_001839.2	P12109	CO6A1_HUMAN	collagen, type VI, alpha 1	341	Triple-helical region.		G -> D (in BM). {ECO:0000269|PubMed:11865138}.|G -> V (in BM). {ECO:0000269|PubMed:15689448, ECO:0000269|PubMed:15955946}.		axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|osteoblast differentiation (GO:0001649)|protein heterotrimerization (GO:0070208)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|protein complex (GO:0043234)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)	platelet-derived growth factor binding (GO:0048407)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33	all_hematologic(128;0.24)			Colorectal(79;0.0265)|READ - Rectum adenocarcinoma(84;0.0649)		GGGTACCCAGGCCTGCCAGGC	0.542																																						ENST00000361866.3																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33	GRCh37	CM020403|CM051895	COL6A1	M	rs121912935	c.(1021-1023)gGc>gAc		collagen, type VI, alpha 1	Palifermin(DB00039)						68	73	71					21																	47410706		2203	4300	6503	SO:0001583	missense	1291				axon guidance|cell adhesion|protein heterotrimerization	collagen type VI|protein complex	platelet-derived growth factor binding	g.chr21:47410706G>A	M20776	CCDS13727.1	21q22.3	2014-09-17			ENSG00000142156	ENSG00000142156		"Collagens"	2211	protein-coding gene	gene with protein product		120220					Standard	XM_006723964		Approved		uc002zhu.1	P12109	OTTHUMG00000090440	ENST00000361866.3:c.1022G>A	21.37:g.47410706G>A	ENSP00000355180:p.Gly341Asp						p.G341D	NM_001848.2	NP_001839.2	P12109	CO6A1_HUMAN		Colorectal(79;0.0265)|READ - Rectum adenocarcinoma(84;0.0649)	14	1136	+	all_hematologic(128;0.24)		341		G -> D (in BM).|G -> V (in BM).	Triple-helical region.		O00117|O00118|Q14040|Q14041|Q16258|Q7Z645|Q9BSA8	Missense_Mutation	SNP	ENST00000361866.3	37	c.1022G>A	CCDS13727.1	.	.	.	.	.	.	.	.	.	.	G	17.53	3.411644	0.62399	.	.	ENSG00000142156	ENST00000361866;ENST00000538397	D	0.99619	-6.28	4.82	4.82	0.62117	.	0.000000	0.85682	D	0.000000	D	0.99750	0.9900	H	0.95365	3.66	0.80722	A	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97095	0.9793	9	0.72032	D	0.01	-31.7912	16.8731	0.86044	0.0:0.0:1.0:0.0	.	341	P12109	CO6A1_HUMAN	D	341	ENSP00000355180:G341D	ENSP00000355180:G341D	G	+	2	0	COL6A1	46235134	0.999000	0.42202	0.991000	0.47740	0.250000	0.25880	4.247000	0.58750	2.222000	0.72286	0.478000	0.44815	GGC		0.542	COL6A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206877.1	NM_001848		42	57	0	0	0	1	0	42	57					A	47410706	G	A	47410706	3	1	241	1	0	0	0	0	1	0	0	0	3699	1203	42	3	1076	3	COL6A1	21	47410706	Missense_Mutation	SNP	G	TCGA-HC-A631-01A-11D-A29Q-08		47410706	719189	54	11351											
MTMR1	8776	broad.mit.edu	37	chrX	149895775	149895775	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aagctgtacttcaaaaatgtCgagagggtgagttttttaaa	14	13	10	4	1	1	2	1	1	0	1	2	3	1	2	0	1	2	3	0	1	6	5	rs372879184		TCGA-HC-A631-01A-11D-A29Q-08	TCGA-HC-A631-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5949750-2444-4081-ad78-05d4614f4467	9e26e7c1-58ba-4e1d-b9bc-bdac163f4834	g.chrX:149895775C>T	ENST00000370390.3	+	4	574	c.417C>T	c.(415-417)gtC>gtT	p.V139V	MTMR1_ENST00000538506.1_Silent_p.V26V|MTMR1_ENST00000541925.1_Silent_p.V45V|MTMR1_ENST00000445323.2_Silent_p.V147V|MTMR1_ENST00000544228.1_Silent_p.V139V|MTMR1_ENST00000451863.2_Silent_p.V139V|MTMR1_ENST00000542156.1_Silent_p.V139V	NM_003828.2	NP_003819.1	Q13613	MTMR1_HUMAN	myotubularin related protein 1	139	GRAM.				phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	phosphatidylinositol-3-phosphatase activity (GO:0004438)|protein tyrosine phosphatase activity (GO:0004725)	p.V139V(1)		central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(5)|ovary(2)|prostate(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					TCAAAAATGTCGAGAGGGTGA	0.358													c|||	2	0.000529801	0.0015	0	3775	,	,		12266	0		0	False		,,,				2504	0					ENST00000445323.2																			1	Substitution - coding silent(1)	p.V139V(1)	large_intestine(1)	central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(5)|ovary(2)|prostate(1)	23						c.(439-441)gtC>gtT		myotubularin related protein 1		C		1,3834		0,1,1631,571	120	99	106		417	-8.8	0	X		106	0,6728		0,0,2428,1872	no	coding-synonymous	MTMR1	NM_003828.2		0,1,4059,2443	TT,TC,CC,C		0.0,0.0261,0.0095		139/666	149895775	1,10562	2203	4300	6503	SO:0001819	synonymous_variant	8776					plasma membrane	protein tyrosine phosphatase activity	g.chrX:149895775C>T	U58032	CCDS14695.1	Xq28	2011-06-09			ENSG00000063601	ENSG00000063601		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"	7449	protein-coding gene	gene with protein product		300171				9828128	Standard	XM_005274765		Approved		uc004fei.3	Q13613	OTTHUMG00000024159	ENST00000370390.3:c.417C>T	X.37:g.149895775C>T						MTMR1_ENST00000541925.1_Silent_p.V45V|MTMR1_ENST00000370390.3_Silent_p.V139V|MTMR1_ENST00000451863.2_Silent_p.V139V|MTMR1_ENST00000544228.1_Silent_p.V139V|MTMR1_ENST00000538506.1_Silent_p.V26V|MTMR1_ENST00000542156.1_Silent_p.V139V	p.V147V			Q13613	MTMR1_HUMAN			5	562	+	Acute lymphoblastic leukemia(192;6.56e-05)		139			GRAM.		A0A024RC07|Q9UBX6|Q9UEM0|Q9UQD5	Silent	SNP	ENST00000370390.3	37	c.441C>T	CCDS14695.1																																																																																				0.358	MTMR1-013	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060863.2	NM_003828, NM_176789		31	1	0	0	0	1	0	31	1					T	149895775	C	T	149895775	2	4	241	1	0	0	0	0	0	0	0	1	9938	871	31	2		2	MTMR1	23	149895775	Silent	SNP	C	TCGA-HC-A631-01A-11D-A29Q-08		149895775	5374785	55	11352											
UBR4	23352	broad.mit.edu	37	chr1	19403307	19403307	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaggttttcagggctttgtcGgcagcttcgtagatgggcat	7	13	14	7	2	1	1	1	0	0	1	3	1	1	1	0	4	1	6	0	4	2	5			TCGA-HC-A632-01A-11D-A29Q-08	TCGA-HC-A632-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62488eee-4473-454e-89d3-7102d7c34977	c00991ab-7597-4eaf-9574-ef30295beeb9	g.chr1:19403307G>T	ENST00000375254.3	-	105	15441	c.15414C>A	c.(15412-15414)gcC>gcA	p.A5138A	UBR4_ENST00000543981.1_Silent_p.A802A|UBR4_ENST00000375217.2_Silent_p.A5131A|UBR4_ENST00000429347.2_Silent_p.A661A|UBR4_ENST00000375224.1_Silent_p.A845A|UBR4_ENST00000375225.3_Silent_p.A213A|UBR4_ENST00000375226.2_Silent_p.A5114A|UBR4_ENST00000375267.2_Silent_p.A5159A|RP5-1126H10.2_ENST00000606379.1_RNA	NM_020765.2	NP_065816.2	Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	5138					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		GGGCTTTGTCGGCAGCTTCGT	0.522																																						ENST00000375267.2																			0				breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171						c.(15475-15477)gcC>gcA		ubiquitin protein ligase E3 component n-recognin 4							208	186	193					1																	19403307		2203	4300	6503	SO:0001819	synonymous_variant	23352				interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr1:19403307G>T	AF348492	CCDS189.1	1p36.13	2008-06-23	2007-06-19	2007-06-19	ENSG00000127481	ENSG00000127481		"Ubiquitin protein ligase E3 component n-recognins"	30313	protein-coding gene	gene with protein product		609890	"zinc finger, UBR1 type 1"	ZUBR1		14702039, 10718198, 16055722	Standard	XM_005245802		Approved	KIAA1307, KIAA0462, RBAF600	uc001bbi.3	Q5T4S7	OTTHUMG00000002498	ENST00000375254.3:c.15414C>A	1.37:g.19403307G>T						UBR4_ENST00000375254.3_Silent_p.A5138A|UBR4_ENST00000375217.2_Silent_p.A5131A|UBR4_ENST00000375226.2_Silent_p.A5114A|UBR4_ENST00000375224.1_Silent_p.A845A|UBR4_ENST00000429347.2_Silent_p.A661A|UBR4_ENST00000375225.3_Silent_p.A213A|UBR4_ENST00000543981.1_Silent_p.A802A	p.A5159A			Q5T4S7	UBR4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)	106	15480	-		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)	5138					A8MPT2|A8MQ33|A8MQB1|O60646|O75050|Q4QRK5|Q5T4S8|Q5T4S9|Q5TBN8|Q5TBP2|Q6DKH8|Q6P4A4|Q7L8P7|Q8IXJ4|Q8TDN5|Q8WV67|Q9HA46|Q9P2N9|Q9UG82	Silent	SNP	ENST00000375254.3	37	c.15477C>A	CCDS189.1																																																																																				0.522	UBR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007085.1	NM_020765		73	167	1	0	5.04879e-28	1	5.89025e-28	73	167					T	19403307	G	T	19403307	2	4	242	1	0	0	0	0	0	0	0	1	16901	1103	39	5		5	UBR4	1	19403307	Silent	SNP	G	TCGA-HC-A632-01A-11D-A29Q-08		19403307	229847314	1	11353											
CELSR2	1952	broad.mit.edu	37	chr1	109801499	109801499	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgctgcgcttcgactcctcCgcgcccttcatcgcctcctc	2	11	8	20	5	1	0	1	0	0	0	7	1	4	0	5	0	2	2	5	0	0	2			TCGA-HC-A632-01A-11D-A29Q-08	TCGA-HC-A632-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62488eee-4473-454e-89d3-7102d7c34977	c00991ab-7597-4eaf-9574-ef30295beeb9	g.chr1:109801499C>T	ENST00000271332.3	+	2	3817	c.3756C>T	c.(3754-3756)tcC>tcT	p.S1252S		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	1252	EGF-like 1; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				cerebrospinal fluid secretion (GO:0033326)|cilium assembly (GO:0042384)|cilium movement (GO:0003341)|dendrite morphogenesis (GO:0048813)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neural plate anterior/posterior regionalization (GO:0021999)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of cell-cell adhesion (GO:0022407)|regulation of protein localization (GO:0032880)|regulation of transcription, DNA-templated (GO:0006355)|ventricular system development (GO:0021591)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		TCGACTCCTCCGCGCCCTTCA	0.692																																					NSCLC(158;1285 2011 34800 34852 42084)	ENST00000271332.3																			0				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82						c.(3754-3756)tcC>tcT		cadherin, EGF LAG seven-pass G-type receptor 2							45	38	40					1																	109801499		2203	4300	6503	SO:0001819	synonymous_variant	1952				dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding	g.chr1:109801499C>T	D87469	CCDS796.1	1p13.3	2014-08-08	2013-02-18		ENSG00000143126	ENSG00000143126		"Cadherins / Major cadherins", "-", "GPCR / Class B : Orphans"	3231	protein-coding gene	gene with protein product		604265	"cadherin, EGF LAG seven-pass G-type receptor 2, flamingo (Drosophila) homolog"	EGFL2		9693030, 10907856	Standard	NM_001408		Approved	KIAA0279, MEGF3, Flamingo1, CDHF10	uc001dxa.4	Q9HCU4	OTTHUMG00000012003	ENST00000271332.3:c.3756C>T	1.37:g.109801499C>T							p.S1252S	NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)	2	3817	+		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)	1252			EGF-like 1; calcium-binding.		Q5T2Y7|Q92566	Silent	SNP	ENST00000271332.3	37	c.3756C>T	CCDS796.1																																																																																				0.692	CELSR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033200.1	NM_001408		7	29	0	0	0	1	0	7	29					T	109801499	C	T	109801499	2	4	242	1	0	0	0	0	0	0	0	1	3222	639	23	2		2	CELSR2	1	109801499	Silent	SNP	C	TCGA-HC-A632-01A-11D-A29Q-08	90398192	109801499	139449122	2	11354											
CHI3L2	1117	broad.mit.edu	37	chr1	111783985	111783985	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaggagccaagatcacgcggCtccaggatcaacaggttccc	12	5	11	13	2	2	1	2	0	0	1	4	3	4	3	3	4	2	2	3	4	3	1			TCGA-HC-A632-01A-11D-A29Q-08	TCGA-HC-A632-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62488eee-4473-454e-89d3-7102d7c34977	c00991ab-7597-4eaf-9574-ef30295beeb9	g.chr1:111783985C>T	ENST00000445067.2	+	11	1726	c.955C>T	c.(955-957)Ctc>Ttc	p.L319F	CHI3L2_ENST00000529459.1_3'UTR|CHI3L2_ENST00000466741.1_Missense_Mutation_p.L240F|CHI3L2_ENST00000369748.4_Missense_Mutation_p.L319F|CHI3L2_ENST00000369744.2_Missense_Mutation_p.L309F|CHI3L2_ENST00000524472.1_Missense_Mutation_p.L240F			Q15782	CH3L2_HUMAN	chitinase 3-like 2	319					carbohydrate metabolic process (GO:0005975)|chitin catabolic process (GO:0006032)	extracellular space (GO:0005615)	carbohydrate binding (GO:0030246)|chitin binding (GO:0008061)|hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(8)|prostate(1)	19		all_cancers(81;1.89e-05)|all_epithelial(167;7.36e-06)|all_lung(203;0.00018)|Lung NSC(277;0.000359)		Lung(183;0.0171)|Colorectal(144;0.0387)|all cancers(265;0.0464)|LUSC - Lung squamous cell carcinoma(189;0.0872)|Epithelial(280;0.0994)|COAD - Colon adenocarcinoma(174;0.141)		GATCACGCGGCTCCAGGATCA	0.537																																						ENST00000445067.2																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(8)|prostate(1)	19						c.(955-957)Ctc>Ttc		chitinase 3-like 2							99	87	91					1																	111783985		2203	4300	6503	SO:0001583	missense	1117				chitin catabolic process	extracellular space	cation binding|chitinase activity	g.chr1:111783985C>T	U49835	CCDS30802.1, CCDS30803.1, CCDS41367.1	1p13.3	2008-02-05			ENSG00000064886	ENSG00000064886			1933	protein-coding gene	gene with protein product		601526				8702629	Standard	NM_001025197		Approved	YKL-39, YKL39	uc001eam.3	Q15782	OTTHUMG00000012174	ENST00000445067.2:c.955C>T	1.37:g.111783985C>T	ENSP00000437082:p.Leu319Phe					CHI3L2_ENST00000466741.1_Missense_Mutation_p.L240F|CHI3L2_ENST00000369744.2_Missense_Mutation_p.L309F|CHI3L2_ENST00000529459.1_3'UTR|CHI3L2_ENST00000524472.1_Missense_Mutation_p.L240F|CHI3L2_ENST00000369748.4_Missense_Mutation_p.L319F	p.L319F			Q15782	CH3L2_HUMAN		Lung(183;0.0171)|Colorectal(144;0.0387)|all cancers(265;0.0464)|LUSC - Lung squamous cell carcinoma(189;0.0872)|Epithelial(280;0.0994)|COAD - Colon adenocarcinoma(174;0.141)	11	1726	+		all_cancers(81;1.89e-05)|all_epithelial(167;7.36e-06)|all_lung(203;0.00018)|Lung NSC(277;0.000359)	319					A6NNY3|B4DPR7|Q15749|Q15783|Q5VUV7|Q96F97	Missense_Mutation	SNP	ENST00000445067.2	37	c.955C>T	CCDS30802.1	.	.	.	.	.	.	.	.	.	.	C	6.324	0.427800	0.11987	.	.	ENSG00000064886	ENST00000445067;ENST00000369744;ENST00000369748;ENST00000466741;ENST00000524472;ENST00000497220;ENST00000472825	T;T;T;T;T;T;T	0.14391	3.43;3.43;3.43;3.43;3.43;3.52;2.51	3.59	-2.64	0.06114	Chitinase II (1);Glycoside hydrolase, family 18, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.289830	0.18617	U	0.136000	T	0.02610	0.0079	L	0.46819	1.47	0.09310	N	1	B;B	0.23990	0.095;0.095	B;B	0.28784	0.094;0.094	T	0.47182	-0.9137	10	0.09338	T	0.73	-2.2846	6.6071	0.22731	0.6286:0.2676:0.0:0.1039	.	309;319	A6NNY3;Q15782	.;CH3L2_HUMAN	F	319;309;319;240;240;112;15	ENSP00000437082:L319F;ENSP00000358759:L309F;ENSP00000358763:L319F;ENSP00000437086:L240F;ENSP00000432049:L240F;ENSP00000435250:L112F;ENSP00000435935:L15F	ENSP00000358759:L309F	L	+	1	0	CHI3L2	111585508	0.324000	0.24652	0.001000	0.08648	0.412000	0.31113	1.126000	0.31344	-0.454000	0.07066	0.655000	0.94253	CTC		0.537	CHI3L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033669.4	NM_004000		34	69	0	0	0	1	0	34	69					T	111783985	C	T	111783985	3	4	242	1	0	0	0	0	1	0	0	0	3341	797	28	3	989	3	CHI3L2	1	111783985	Missense_Mutation	SNP	C	TCGA-HC-A632-01A-11D-A29Q-08	1982486	111783985	137466636	3	11355											
ARHGEF2	9181	broad.mit.edu	37	chr1	155931554	155931554	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ggggcccttgccaggcactgGggtttgggcccgagggtcca	4	7	18	12	1	0	0	0	0	0	0	1	1	1	0	4	7	1	2	4	7	0	2			TCGA-HC-A632-01A-11D-A29Q-08	TCGA-HC-A632-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62488eee-4473-454e-89d3-7102d7c34977	c00991ab-7597-4eaf-9574-ef30295beeb9	g.chr1:155931554G>A	ENST00000361247.4	-	11	1465	c.1366C>T	c.(1366-1368)Cca>Tca	p.P456S	ARHGEF2_ENST00000477754.2_Intron|ARHGEF2_ENST00000368315.4_Missense_Mutation_p.P457S|ARHGEF2_ENST00000368316.1_Missense_Mutation_p.P428S|ARHGEF2_ENST00000313695.7_Missense_Mutation_p.P428S|ARHGEF2_ENST00000462460.2_Missense_Mutation_p.P501S|ARHGEF2_ENST00000313667.4_Missense_Mutation_p.P455S	NM_001162383.1|NM_001162384.1	NP_001155855.1|NP_001155856.1	Q92974	ARHG2_HUMAN	Rho/Rac guanine nucleotide exchange factor (GEF) 2	456					actin filament organization (GO:0007015)|apoptotic signaling pathway (GO:0097190)|cell morphogenesis (GO:0000902)|cellular hyperosmotic response (GO:0071474)|cellular response to muramyl dipeptide (GO:0071225)|cellular response to tumor necrosis factor (GO:0071356)|establishment of mitotic spindle orientation (GO:0000132)|innate immune response (GO:0045087)|intracellular protein transport (GO:0006886)|mitotic nuclear division (GO:0007067)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of intrinsic apoptotic signaling pathway in response to osmotic stress (GO:1902219)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of necroptotic process (GO:0060546)|negative regulation of neurogenesis (GO:0050768)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of cell proliferation (GO:0042127)|regulation of Rho protein signal transduction (GO:0035023)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|neuronal cell body (GO:0043025)|protein complex (GO:0043234)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)|vesicle (GO:0031982)	microtubule binding (GO:0008017)|Rac GTPase binding (GO:0048365)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|Rho GTPase binding (GO:0017048)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			breast(4)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|skin(2)	40	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)					CCAGGCACTGGGGTTTGGGCC	0.602																																					Melanoma(178;35 2768 6610 28839)	ENST00000368316.1																			0				breast(4)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|skin(2)	40						c.(1282-1284)Cca>Tca		Rho/Rac guanine nucleotide exchange factor (GEF) 2							63	63	63					1																	155931554		2203	4300	6503	SO:0001583	missense	9181				actin filament organization|apoptosis|cell division|cell morphogenesis|induction of apoptosis by extracellular signals|intracellular protein transport|mitosis|negative regulation of microtubule depolymerization|nerve growth factor receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|regulation of cell proliferation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|Golgi apparatus|microtubule|ruffle membrane|spindle|tight junction	microtubule binding|Rac GTPase binding|Rac guanyl-nucleotide exchange factor activity|zinc ion binding	g.chr1:155931554G>A	AB014551	CCDS1125.1, CCDS53375.1, CCDS53376.1	1q21-q22	2013-01-10	2009-06-12		ENSG00000116584	ENSG00000116584		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	682	protein-coding gene	gene with protein product		607560	"rho/rac guanine nucleotide exchange factor (GEF) 2"			9857026, 9734811	Standard	NM_004723		Approved	LFP40, GEF-H1, KIAA0651, P40	uc001fmt.2	Q92974	OTTHUMG00000017464	ENST00000361247.4:c.1366C>T	1.37:g.155931554G>A	ENSP00000354837:p.Pro456Ser					ARHGEF2_ENST00000361247.4_Missense_Mutation_p.P456S|ARHGEF2_ENST00000368315.3_Missense_Mutation_p.P457S|ARHGEF2_ENST00000313667.4_Missense_Mutation_p.P455S|ARHGEF2_ENST00000313695.7_Missense_Mutation_p.P428S	p.P428S			Q92974	ARHG2_HUMAN			15	1752	-	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		456			DH.		D3DVA6|O75142|Q15079|Q5VY92|Q8TDA3|Q8WUG4|Q9H023	Missense_Mutation	SNP	ENST00000361247.4	37	c.1282C>T	CCDS53376.1	.	.	.	.	.	.	.	.	.	.	G	13.82	2.352360	0.41700	.	.	ENSG00000116584	ENST00000313695;ENST00000361247;ENST00000368315;ENST00000368316;ENST00000313667	T;T;T;T;T	0.62105	0.05;0.05;0.05;0.05;0.05	4.95	4.95	0.65309	Pleckstrin homology-type (1);	0.000000	0.46758	D	0.000263	T	0.30166	0.0756	L	0.44542	1.39	0.30675	N	0.752969	B;P;B	0.43231	0.245;0.801;0.359	B;B;B	0.35353	0.017;0.201;0.038	T	0.16482	-1.0401	10	0.14252	T	0.57	-23.6489	11.0118	0.47667	0.0:0.0:0.8142:0.1858	.	500;456;455	D3DVA5;Q92974;Q92974-2	.;ARHG2_HUMAN;.	S	428;456;457;428;455	ENSP00000315325:P428S;ENSP00000354837:P456S;ENSP00000357298:P457S;ENSP00000357299:P428S;ENSP00000314787:P455S	ENSP00000314787:P455S	P	-	1	0	ARHGEF2	154198178	0.549000	0.26481	0.998000	0.56505	0.997000	0.91878	0.714000	0.25808	2.724000	0.93272	0.655000	0.94253	CCA		0.602	ARHGEF2-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000046204.2	NM_004723		22	82	0	0	0	1	0	22	82					A	155931554	G	A	155931554	3	1	242	1	0	0	0	0	1	0	0	0	903	1232	43	3	1642	3	ARHGEF2	1	155931554	Missense_Mutation	SNP	G	TCGA-HC-A632-01A-11D-A29Q-08	44147569	155931554	93319067	4	11356											
CD1C	911	broad.mit.edu	37	chr1	158260938	158260938	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caaaagcatcccaggaacacGtctccttccatgtcatccag	12	8	6	15	1	2	0	1	0	1	0	6	1	5	1	4	1	2	1	4	1	3	1			TCGA-HC-A632-01A-11D-A29Q-08	TCGA-HC-A632-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62488eee-4473-454e-89d3-7102d7c34977	c00991ab-7597-4eaf-9574-ef30295beeb9	g.chr1:158260938G>A	ENST00000368170.3	+	2	355	c.76G>A	c.(76-78)Gtc>Atc	p.V26I		NM_001765.2	NP_001756.2	P29017	CD1C_HUMAN	CD1c molecule	26					antigen processing and presentation (GO:0019882)|T cell activation involved in immune response (GO:0002286)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	endogenous lipid antigen binding (GO:0030883)|exogenous lipid antigen binding (GO:0030884)|glycolipid binding (GO:0051861)|lipopeptide binding (GO:0071723)			NS(1)|endometrium(3)|large_intestine(4)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	39	all_hematologic(112;0.0378)					CCAGGAACACGTCTCCTTCCA	0.483																																						ENST00000368170.3																			0				NS(1)|endometrium(3)|large_intestine(4)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	39						c.(76-78)Gtc>Atc		CD1c molecule							70	60	64					1																	158260938		2203	4300	6503	SO:0001583	missense	911				antigen processing and presentation|T cell activation involved in immune response	endosome membrane|integral to plasma membrane	endogenous lipid antigen binding|exogenous lipid antigen binding|glycolipid binding|lipopeptide binding	g.chr1:158260938G>A	M28827	CCDS1175.1	1q23.1	2014-01-14	2006-03-28		ENSG00000158481	ENSG00000158481		"CD molecules", "Immunoglobulin superfamily / C1-set domain containing"	1636	protein-coding gene	gene with protein product		188340	"CD1C antigen, c polypeptide", "CD1c antigen"	CD1		2447586	Standard	NM_001765		Approved		uc001fru.3	P29017	OTTHUMG00000017514	ENST00000368170.3:c.76G>A	1.37:g.158260938G>A	ENSP00000357152:p.Val26Ile						p.V26I	NM_001765.2	NP_001756.2	P29017	CD1C_HUMAN			2	355	+	all_hematologic(112;0.0378)		26					Q5TDJ7|Q6IAS4|Q9UMM0|Q9UN96	Missense_Mutation	SNP	ENST00000368170.3	37	c.76G>A	CCDS1175.1	.	.	.	.	.	.	.	.	.	.	-	0.011	-1.714147	0.00706	.	.	ENSG00000158481	ENST00000368169;ENST00000368170	T	0.06142	3.34	3.32	-0.372	0.12520	MHC classes I/II-like antigen recognition protein (1);MHC class I-like antigen recognition (1);	1.051030	0.07613	N	0.925743	T	0.00440	0.0014	N	0.01405	-0.89	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.46555	-0.9183	10	0.02654	T	1	.	3.3717	0.07223	0.4424:0.2865:0.2711:0.0	.	26	P29017	CD1C_HUMAN	I	26	ENSP00000357152:V26I	ENSP00000357151:V26I	V	+	1	0	CD1C	156527562	0.000000	0.05858	0.000000	0.03702	0.037000	0.13140	-1.950000	0.01530	-0.086000	0.12550	-0.312000	0.09012	GTC		0.483	CD1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046351.2	NM_001765		18	44	0	0	0	1	0	18	44					A	158260938	G	A	158260938	3	1	242	1	0	0	0	0	1	0	0	0	2976	1145	40	1	82	1	CD1C	1	158260938	Missense_Mutation	SNP	G	TCGA-HC-A632-01A-11D-A29Q-08	2329384	158260938	90989683	5	11357											
SELP	6403	broad.mit.edu	37	chr1	169586560	169586560	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggccactaagtctgtgtagcGattctggcagtatttacggg	8	12	13	8	2	2	0	0	0	2	0	2	1	2	0	1	3	2	3	1	3	4	6			TCGA-HC-A632-01A-11D-A29Q-08	TCGA-HC-A632-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62488eee-4473-454e-89d3-7102d7c34977	c00991ab-7597-4eaf-9574-ef30295beeb9	g.chr1:169586560G>A	ENST00000263686.6	-	3	224	c.187C>T	c.(187-189)Cgc>Tgc	p.R63C	SELP_ENST00000367794.2_Missense_Mutation_p.R63C|SELP_ENST00000367788.2_Missense_Mutation_p.R63C|SELP_ENST00000367786.2_Missense_Mutation_p.R63C|SELP_ENST00000367793.2_Missense_Mutation_p.R63C|SELP_ENST00000367791.2_Missense_Mutation_p.R63C|SELP_ENST00000458599.2_Missense_Mutation_p.R63C|SELP_ENST00000367792.2_Missense_Mutation_p.R63C	NM_003005.3	NP_002996.2	P16109	LYAM3_HUMAN	selectin P (granule membrane protein 140kDa, antigen CD62)	63	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|defense response to Gram-negative bacterium (GO:0050829)|heterophilic cell-cell adhesion (GO:0007157)|inflammatory response (GO:0006954)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte tethering or rolling (GO:0050901)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of platelet activation (GO:0010572)|regulation of integrin activation (GO:0033623)|response to lipopolysaccharide (GO:0032496)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|platelet alpha granule membrane (GO:0031092)|platelet dense granule membrane (GO:0031088)	fucose binding (GO:0042806)|glycosphingolipid binding (GO:0043208)|heparin binding (GO:0008201)|lipopolysaccharide binding (GO:0001530)|oligosaccharide binding (GO:0070492)|sialic acid binding (GO:0033691)	p.R63C(1)		breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(32)|ovary(4)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(923;0.208)				Dalteparin(DB06779)|Heparin(DB01109)|Nadroparin(DB08813)	TCTGTGTAGCGATTCTGGCAG	0.403																																						ENST00000263686.6																			1	Substitution - Missense(1)	p.R63C(1)	skin(1)	breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(32)|ovary(4)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						c.(187-189)Cgc>Tgc		selectin P (granule membrane protein 140kDa, antigen CD62)	Clopidogrel(DB00758)|Heparin(DB01109)|Tirofiban(DB00775)						157	144	148					1																	169586560		2203	4300	6503	SO:0001583	missense	6403				platelet activation|platelet degranulation|positive regulation of platelet activation	external side of plasma membrane|extracellular space|integral to plasma membrane|membrane fraction|platelet alpha granule membrane|platelet dense granule membrane|soluble fraction	fucose binding|glycosphingolipid binding|heparin binding|lipopolysaccharide binding|oligosaccharide binding|sialic acid binding	g.chr1:169586560G>A	BC068533	CCDS1282.1	1q22-q25	2008-02-05	2002-08-29		ENSG00000174175	ENSG00000174175		"CD molecules"	10721	protein-coding gene	gene with protein product		173610	"selectin P (granule membrane protein 140kD, antigen CD62)"	GRMP		1375831	Standard	NM_003005		Approved	CD62, PSEL, PADGEM, GMP140, CD62P	uc001ggi.4	P16109	OTTHUMG00000034685	ENST00000263686.6:c.187C>T	1.37:g.169586560G>A	ENSP00000263686:p.Arg63Cys					SELP_ENST00000458599.2_Missense_Mutation_p.R63C|SELP_ENST00000367788.2_Missense_Mutation_p.R63C|SELP_ENST00000367791.2_Missense_Mutation_p.R63C|SELP_ENST00000367792.2_Missense_Mutation_p.R63C|SELP_ENST00000367786.2_Missense_Mutation_p.R63C|SELP_ENST00000367794.2_Missense_Mutation_p.R63C|SELP_ENST00000367793.2_Missense_Mutation_p.R63C	p.R63C	NM_003005.3	NP_002996.2	P16109	LYAM3_HUMAN			3	224	-	all_hematologic(923;0.208)		63			C-type lectin.		Q5R344|Q8IVD1	Missense_Mutation	SNP	ENST00000263686.6	37	c.187C>T	CCDS1282.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	10.46|10.46	1.356678|1.356678	0.24598|0.24598	.|.	.|.	ENSG00000174175|ENSG00000174175	ENST00000367795;ENST00000367790;ENST00000426706;ENST00000367789;ENST00000263686;ENST00000544572;ENST00000367793;ENST00000367794;ENST00000367792;ENST00000367791;ENST00000367788;ENST00000367786;ENST00000458599|ENST00000446728	T;T;T;T;T;T;T|.	0.19250|.	2.16;2.16;2.16;2.16;2.16;2.16;2.16|.	5.77|5.77	-3.25|-3.25	0.05079|0.05079	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);|.	1.497470|.	0.04283|.	N|.	0.344200|.	T|T	0.36138|0.36138	0.0956|0.0956	M|M	0.83223|0.83223	2.63|2.63	0.09310|0.09310	N|N	1|1	D;D|.	0.60160|.	0.987;0.977|.	P;P|.	0.55923|.	0.787;0.787|.	T|T	0.48570|0.48570	-0.9024|-0.9024	10|5	0.39692|.	T|.	0.17|.	-5.2149|-5.2149	6.549|6.549	0.22423|0.22423	0.2254:0.0:0.5243:0.2502|0.2254:0.0:0.5243:0.2502	.|.	63;63|.	Q6NUL9;P16109|.	.;LYAM3_HUMAN|.	C|L	63;63;62;63;63;63;63;63;63;63;63;63;48|62	ENSP00000263686:R63C;ENSP00000356767:R63C;ENSP00000356768:R63C;ENSP00000356766:R63C;ENSP00000356765:R63C;ENSP00000356762:R63C;ENSP00000356760:R63C|.	ENSP00000263686:R63C|.	R|S	-|-	1|2	0|0	SELP|SELP	167853184|167853184	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.008000|0.008000	0.06430|0.06430	-0.249000|-0.249000	0.08842|0.08842	-0.882000|-0.882000	0.03987|0.03987	0.467000|0.467000	0.42956|0.42956	CGC|TCG		0.403	SELP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000083916.4	NM_003005		66	130	0	0	0	1	0	66	130					A	169586560	G	A	169586560	3	1	242	1	0	0	0	0	1	0	0	0	14019	1058	37	2	2361	2	SELP	1	169586560	Missense_Mutation	SNP	G	TCGA-HC-A632-01A-11D-A29Q-08	11325622	169586560	79664061	6	11358											
CFH	3075	broad.mit.edu	37	chr1	196658725	196658725	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcacacaagatggatggtcGccagcagtaccatgcctcag	11	7	11	12	1	1	1	1	0	0	1	2	2	1	2	3	2	4	3	3	2	2	1			TCGA-HC-A632-01A-11D-A29Q-08	TCGA-HC-A632-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62488eee-4473-454e-89d3-7102d7c34977	c00991ab-7597-4eaf-9574-ef30295beeb9	g.chr1:196658725G>A	ENST00000359637.2	+	7	1010	c.948G>A	c.(946-948)tcG>tcA	p.S316S	CFH_ENST00000367429.4_Silent_p.S380S|CFH_ENST00000439155.2_Silent_p.S380S			P08603	CFAH_HUMAN	complement factor H	380	Sushi 5. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	heparan sulfate proteoglycan binding (GO:0043395)|heparin binding (GO:0008201)			NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						ATGGATGGTCGCCAGCAGTAC	0.393																																						ENST00000367429.4																			0				NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						c.(1138-1140)tcG>tcA		complement factor H							107	105	105					1																	196658725		2203	4300	6503	SO:0001819	synonymous_variant	3075				complement activation, alternative pathway	extracellular space		g.chr1:196658725G>A	Y00716	CCDS1385.1	1q32	2014-09-17	2004-08-09	2004-08-12	ENSG00000000971	ENSG00000000971		"Complement system"	4883	protein-coding gene	gene with protein product	"beta-1H", "H factor 2 (complement)", "age-related maculopathy susceptibility 1"	134370	"H factor 1 (complement)"	HF, HF1, HF2		2889480, 2963625	Standard	NM_000186		Approved	HUS, FHL1, ARMS1, ARMD4	uc001gtj.4	P08603	OTTHUMG00000035607	ENST00000359637.2:c.948G>A	1.37:g.196658725G>A						CFH_ENST00000359637.2_Silent_p.S316S|CFH_ENST00000439155.2_Silent_p.S380S	p.S380S	NM_000186.3	NP_000177.2	P08603	CFAH_HUMAN			8	1380	+			380			Sushi 6.		A5PL14|P78435|Q14570|Q2TAZ5|Q38G77|Q5TFM3|Q8N708|Q9NU86	Silent	SNP	ENST00000359637.2	37	c.1140G>A																																																																																					0.393	CFH-002	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000087502.1	NM_000186		43	68	0	0	0	1	0	43	68					A	196658725	G	A	196658725	2	1	242	1	0	0	0	0	0	0	0	1	3283	1074	38	1		1	CFH	1	196658725	Silent	SNP	G	TCGA-HC-A632-01A-11D-A29Q-08	27072165	196658725	52591896	7	11359											
PARP1	142	broad.mit.edu	37	chr1	226555255	226555255	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atcatcagaccctcccctgaGcagactgtaggccacctcga	10	7	8	16	1	2	3	2	1	0	2	4	4	3	3	5	1	1	2	5	1	1	1			TCGA-HC-A632-01A-11D-A29Q-08	TCGA-HC-A632-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62488eee-4473-454e-89d3-7102d7c34977	c00991ab-7597-4eaf-9574-ef30295beeb9	g.chr1:226555255G>A	ENST00000366794.5	-	17	2475	c.2332C>T	c.(2332-2334)Ctc>Ttc	p.L778F	PARP1_ENST00000490921.1_5'UTR	NM_001618.3	NP_001609.2	P09874	PARP1_HUMAN	poly (ADP-ribose) polymerase 1	778	PARP alpha-helical. {ECO:0000255|PROSITE- ProRule:PRU00398}.				base-excision repair (GO:0006284)|cellular response to insulin stimulus (GO:0032869)|DNA damage response, detection of DNA damage (GO:0042769)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|gene expression (GO:0010467)|macrophage differentiation (GO:0030225)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription regulatory region DNA binding (GO:2000679)|protein ADP-ribosylation (GO:0006471)|protein autoprocessing (GO:0016540)|protein poly-ADP-ribosylation (GO:0070212)|regulation of growth rate (GO:0040009)|signal transduction involved in regulation of gene expression (GO:0023019)|telomere maintenance (GO:0000723)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|NAD binding (GO:0051287)|NAD+ ADP-ribosyltransferase activity (GO:0003950)|poly(A) RNA binding (GO:0044822)|protein N-terminus binding (GO:0047485)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			breast(2)|endometrium(4)|kidney(4)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	44	Breast(184;0.133)			GBM - Glioblastoma multiforme(131;0.0531)		CCTCCCCTGAGCAGACTGTAG	0.512								Poly(ADP-ribose) polymerase (PARP) enzymes that bind to DNA																														ENST00000366794.5																			0				breast(2)|endometrium(4)|kidney(4)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	44						c.(2332-2334)Ctc>Ttc	Poly(ADP-ribose) polymerase (PARP) enzymes that bind to DNA	poly (ADP-ribose) polymerase 1							157	136	143					1																	226555255		2203	4300	6503	SO:0001583	missense	142				cellular response to insulin stimulus|protein ADP-ribosylation|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nuclear envelope|nucleolus|transcription factor complex	DNA binding|identical protein binding|NAD+ ADP-ribosyltransferase activity|protein N-terminus binding|transcription factor binding|zinc ion binding	g.chr1:226555255G>A	BC037545	CCDS1554.1	1q41-q42	2010-02-16	2008-07-28	2004-08-26	ENSG00000143799	ENSG00000143799	2.4.2.30	"Poly (ADP-ribose) polymerases"	270	protein-coding gene	gene with protein product		173870	"ADP-ribosyltransferase (NAD+; poly (ADP-ribose) polymerase)", "poly (ADP-ribose) polymerase family, member 1"	PPOL, ADPRT		10964595	Standard	NM_001618		Approved	PARP	uc001hqd.4	P09874	OTTHUMG00000037556	ENST00000366794.5:c.2332C>T	1.37:g.226555255G>A	ENSP00000355759:p.Leu778Phe					PARP1_ENST00000490921.1_5'UTR	p.L778F	NM_001618.3	NP_001609.2	P09874	PARP1_HUMAN		GBM - Glioblastoma multiforme(131;0.0531)	17	2475	-	Breast(184;0.133)		778			PARP alpha-helical.		B1ANJ4|Q8IUZ9	Missense_Mutation	SNP	ENST00000366794.5	37	c.2332C>T	CCDS1554.1	.	.	.	.	.	.	.	.	.	.	G	26.0	4.697460	0.88830	.	.	ENSG00000143799	ENST00000366794	T	0.14022	2.54	5.56	5.56	0.83823	Poly(ADP-ribose) polymerase, regulatory domain (4);	0.000000	0.85682	D	0.000000	T	0.40862	0.1134	M	0.85041	2.73	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	T	0.34403	-0.9830	10	0.72032	D	0.01	.	12.8111	0.57639	0.0746:0.0:0.9254:0.0	.	778	P09874	PARP1_HUMAN	F	778	ENSP00000355759:L778F	ENSP00000355759:L778F	L	-	1	0	PARP1	224621878	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	6.411000	0.73298	2.626000	0.88956	0.655000	0.94253	CTC		0.512	PARP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091519.1	NM_001618		38	71	0	0	0	1	0	38	71					A	226555255	G	A	226555255	3	1	242	1	0	0	0	0	1	0	0	0	11454	971	34	3	740	3	PARP1	1	226555255	Missense_Mutation	SNP	G	TCGA-HC-A632-01A-11D-A29Q-08	29896530	226555255	22695366	8	11360											
CCDC85A	114800	broad.mit.edu	37	chr2	56419681	56419681	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgtttcctggatgatgacCggcagaaaggcaagagggtg	10	8	16	7	1	0	4	0	2	0	2	1	5	1	5	2	4	0	4	2	4	2	1			TCGA-HC-A632-01A-11D-A29Q-08	TCGA-HC-A632-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62488eee-4473-454e-89d3-7102d7c34977	c00991ab-7597-4eaf-9574-ef30295beeb9	g.chr2:56419681C>T	ENST00000407595.2	+	2	848	c.346C>T	c.(346-348)Cgg>Tgg	p.R116W	RP11-482H16.1_ENST00000607540.1_RNA	NM_001080433.1	NP_001073902.1	Q96PX6	CC85A_HUMAN	coiled-coil domain containing 85A	116										breast(6)|cervix(2)|endometrium(5)|kidney(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)	38			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			GGATGATGACCGGCAGAAAGG	0.527																																						ENST00000407595.2																			0				breast(6)|cervix(2)|endometrium(5)|kidney(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)	38						c.(346-348)Cgg>Tgg		coiled-coil domain containing 85A							77	84	82					2																	56419681		1973	4161	6134	SO:0001583	missense	114800							g.chr2:56419681C>T	AB067499	CCDS46290.1	2p16.1	2006-03-29			ENSG00000055813	ENSG00000055813			29400	protein-coding gene	gene with protein product						11572484	Standard	NM_001080433		Approved	KIAA1912	uc002rzn.3	Q96PX6	OTTHUMG00000152033	ENST00000407595.2:c.346C>T	2.37:g.56419681C>T	ENSP00000384040:p.Arg116Trp					RP11-482H16.1_ENST00000607540.1_RNA	p.R116W	NM_001080433.1	NP_001073902.1	Q96PX6	CC85A_HUMAN	LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)		2	848	+			116						Missense_Mutation	SNP	ENST00000407595.2	37	c.346C>T	CCDS46290.1	.	.	.	.	.	.	.	.	.	.	C	17.07	3.294470	0.60086	.	.	ENSG00000055813	ENST00000407595	.	.	.	5.27	3.23	0.37069	.	0.051335	0.85682	D	0.000000	T	0.80037	0.4550	M	0.83223	2.63	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.84428	0.0575	9	0.87932	D	0	-27.2196	15.6135	0.76748	0.3706:0.6294:0.0:0.0	.	116	Q96PX6	CC85A_HUMAN	W	116	.	ENSP00000384040:R116W	R	+	1	2	CCDC85A	56273185	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.360000	0.34125	1.189000	0.43028	0.655000	0.94253	CGG		0.527	CCDC85A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324993.1			28	56	0	0	0	1	0	28	56					T	56419681	C	T	56419681	3	4	242	1	0	0	0	0	1	0	0	0	2859	643	23	2	352	2	CCDC85A	2	56419681	Missense_Mutation	SNP	C	TCGA-HC-A632-01A-11D-A29Q-08		56419681	186779692	9	11361											
C2orf51	200523	broad.mit.edu	37	chr2	88826009	88826009	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaatactccagggtcacgccGcaagaggtaggaaggcacgc	13	4	13	11	3	1	1	1	0	0	1	2	2	2	2	2	4	1	3	2	4	5	2			TCGA-HC-A632-01A-11D-A29Q-08	TCGA-HC-A632-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62488eee-4473-454e-89d3-7102d7c34977	c00991ab-7597-4eaf-9574-ef30295beeb9	g.chr2:88826009G>A	ENST00000303254.3	+	3	256	c.114G>A	c.(112-114)ccG>ccA	p.P38P		NM_152670.2	NP_689883.1	Q96LM6	TEX37_HUMAN	testis expressed 37	38						nucleus (GO:0005634)											GGGTCACGCCGCAAGAGGTAG	0.478																																						ENST00000303254.3																			0											c.(112-114)ccG>ccA		testis expressed 37							106	84	92					2																	88826009		2203	4300	6503	SO:0001819	synonymous_variant	200523							g.chr2:88826009G>A	AK058098	CCDS2003.1	2p11.2	2014-01-28	2012-09-14	2012-09-14	ENSG00000172073	ENSG00000172073			26341	protein-coding gene	gene with protein product	"Testis-Specific Conserved gene 21kDa"		"chromosome 2 open reading frame 51"	C2orf51		17091336	Standard	NM_152670		Approved	FLJ25369, TSC21	uc002stb.2	Q96LM6	OTTHUMG00000130332	ENST00000303254.3:c.114G>A	2.37:g.88826009G>A							p.P38P	NM_152670.2	NP_689883.1					3	256	+									Silent	SNP	ENST00000303254.3	37	c.114G>A	CCDS2003.1																																																																																				0.478	TEX37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252682.1	NM_152670		5	35	0	0	0	1	0	5	35					A	88826009	G	A	88826009	2	1	242	1	0	0	0	0	0	0	0	1	2173	1074	38	1		1	C2orf51	2	88826009	Silent	SNP	G	TCGA-HC-A632-01A-11D-A29Q-08	32406328	88826009	154373364	10	11362											
FAHD2A	51011	broad.mit.edu	37	chr2	96072721	96072721	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccagttgccagtcctaccacGgtcggaggtaaccttcctgg	7	9	11	14	2	0	0	0	0	0	0	3	1	2	1	6	4	3	2	6	4	2	4	rs373739961		TCGA-HC-A632-01A-11D-A29Q-08	TCGA-HC-A632-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62488eee-4473-454e-89d3-7102d7c34977	c00991ab-7597-4eaf-9574-ef30295beeb9	g.chr2:96072721G>A	ENST00000233379.4	+	3	431	c.278G>A	c.(277-279)cGg>cAg	p.R93Q	FAHD2A_ENST00000447036.1_Missense_Mutation_p.R93Q	NM_016044.2	NP_057128.2	Q96GK7	FAH2A_HUMAN	fumarylacetoacetate hydrolase domain containing 2A	93							hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|lung(3)|ovary(1)	8						GTCCTACCACGGTCGGAGGTA	0.597																																						ENST00000233379.4																			0				breast(1)|cervix(1)|endometrium(1)|kidney(1)|lung(3)|ovary(1)	8						c.(277-279)cGg>cAg		fumarylacetoacetate hydrolase domain containing 2A		G	GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	81	65	70		278	3.3	1	2		70	0,8600		0,0,4300	no	missense	FAHD2A	NM_016044.2	43	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	possibly-damaging	93/315	96072721	1,13005	2203	4300	6503	SO:0001583	missense	51011						hydrolase activity|metal ion binding	g.chr2:96072721G>A	AF151863	CCDS2014.1	2q11.2	2008-02-05			ENSG00000115042	ENSG00000115042			24252	protein-coding gene	gene with protein product							Standard	NM_016044		Approved	CGI-105	uc002sur.3	Q96GK7	OTTHUMG00000130397	ENST00000233379.4:c.278G>A	2.37:g.96072721G>A	ENSP00000233379:p.Arg93Gln					FAHD2A_ENST00000447036.1_Missense_Mutation_p.R93Q	p.R93Q	NM_016044.2	NP_057128.2	Q96GK7	FAH2A_HUMAN			3	431	+			93					Q9Y3B0	Missense_Mutation	SNP	ENST00000233379.4	37	c.278G>A	CCDS2014.1	.	.	.	.	.	.	.	.	.	.	G	15.37	2.814323	0.50527	2.27E-4	0.0	ENSG00000115042	ENST00000447036;ENST00000233379;ENST00000418606	T;T	0.30714	1.52;1.52	3.35	3.35	0.38373	Fumarylacetoacetase, C-terminal-related (1);	0.069040	0.64402	D	0.000013	T	0.25419	0.0618	L	0.52206	1.635	0.40083	D	0.976157	B	0.20459	0.045	B	0.17722	0.019	T	0.07121	-1.0789	10	0.12430	T	0.62	.	12.5392	0.56158	0.0:0.0:1.0:0.0	.	93	Q96GK7	FAH2A_HUMAN	Q	93	ENSP00000406424:R93Q;ENSP00000233379:R93Q	ENSP00000233379:R93Q	R	+	2	0	FAHD2A	95436448	1.000000	0.71417	0.986000	0.45419	0.784000	0.44337	5.590000	0.67530	1.856000	0.53863	0.561000	0.74099	CGG		0.597	FAHD2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252778.1	NM_016044		16	36	0	0	0	1	0	16	36					A	96072721	G	A	96072721	3	1	242	1	0	0	0	0	1	0	0	0	5373	1116	39	2	284	2	FAHD2A	2	96072721	Missense_Mutation	SNP	G	TCGA-HC-A632-01A-11D-A29Q-08	7246712	96072721	147126652	11	11363											
LRP1B	53353	broad.mit.edu	37	chr2	140990833	140990833	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcatcaacacttcctaaggaGtttcgacagttttgcccatc	10	13	6	12	1	2	0	2	0	0	0	5	2	3	1	2	1	2	2	2	1	2	5			TCGA-HC-A632-01A-11D-A29Q-08	TCGA-HC-A632-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62488eee-4473-454e-89d3-7102d7c34977	c00991ab-7597-4eaf-9574-ef30295beeb9	g.chr2:140990833G>T	ENST00000389484.3	-	91	14693	c.13722C>A	c.(13720-13722)aaC>aaA	p.N4574K		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	4574					protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TTCCTAAGGAGTTTCGACAGT	0.323										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	ENST00000389484.3																			0				NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606						c.(13720-13722)aaC>aaA		low density lipoprotein receptor-related protein 1B							100	99	99					2																	140990833		2202	4299	6501	SO:0001583	missense	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:140990833G>T	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"Low density lipoprotein receptors"	6693	protein-coding gene	gene with protein product	"LRP-deleted in tumors"	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.13722C>A	2.37:g.140990833G>T	ENSP00000374135:p.Asn4574Lys	TSP Lung(27;0.18)					p.N4574K	NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)	91	14693	-		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)	4574					Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	c.13722C>A	CCDS2182.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	8.435|8.435	0.849511|0.849511	0.17034|0.17034	.|.	.|.	ENSG00000168702|ENSG00000168702	ENST00000389484;ENST00000544579|ENST00000437977	T|.	0.43688|.	0.94|.	5.69|5.69	1.38|1.38	0.22167|0.22167	.|.	0.069032|.	0.56097|.	U|.	0.000030|.	T|T	0.30386|0.30386	0.0763|0.0763	N|N	0.19112|0.19112	0.55|0.55	0.29736|0.29736	N|N	0.837517|0.837517	B|.	0.12013|.	0.005|.	B|.	0.14023|.	0.01|.	T|T	0.28522|0.28522	-1.0041|-1.0041	10|5	0.28530|.	T|.	0.3|.	.|.	11.7752|11.7752	0.51981|0.51981	0.274:0.0:0.726:0.0|0.274:0.0:0.726:0.0	.|.	4574|.	Q9NZR2|.	LRP1B_HUMAN|.	K|N	4574;4512|773	ENSP00000374135:N4574K|.	ENSP00000374135:N4574K|.	N|T	-|-	3|2	2|0	LRP1B|LRP1B	140707303|140707303	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	1.343000|1.343000	0.33930|0.33930	0.350000|0.350000	0.24002|0.24002	0.585000|0.585000	0.79938|0.79938	AAC|ACT		0.323	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		9	14	1	0	2.17888e-05	1	2.40823e-05	9	14					T	140990833	G	T	140990833	3	4	242	1	0	0	0	0	1	0	0	0	8955	1020	36	5	81	5	LRP1B	2	140990833	Missense_Mutation	SNP	G	TCGA-HC-A632-01A-11D-A29Q-08	44918112	140990833	102208540	12	11364											
TNS1	7145	broad.mit.edu	37	chr2	218683397	218683397	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgtcccaggctgcctgagcGgaagccagactccaacagag	10	5	12	14	1	0	3	0	1	0	2	2	4	2	4	4	2	4	1	4	2	2	0	rs151035362		TCGA-HC-A632-01A-11D-A29Q-08	TCGA-HC-A632-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62488eee-4473-454e-89d3-7102d7c34977	c00991ab-7597-4eaf-9574-ef30295beeb9	g.chr2:218683397G>A	ENST00000171887.4	-	24	3798	c.3346C>T	c.(3346-3348)Cgc>Tgc	p.R1116C	TNS1_ENST00000419504.1_Missense_Mutation_p.R1103C|TNS1_ENST00000430930.1_Missense_Mutation_p.R1095C	NM_022648.4	NP_072174.3	Q9HBL0	TENS1_HUMAN	tensin 1	1116	Ser-rich.				cell-substrate junction assembly (GO:0007044)|fibroblast migration (GO:0010761)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)	poly(A) RNA binding (GO:0044822)			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(23)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	79		Renal(207;0.0483)|Lung NSC(271;0.213)		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)		CTGCCTGAGCGGAAGCCAGAC	0.637													G|||	1	0.000199681	0	0	5008	,	,		17099	0		0	False		,,,				2504	0.001					ENST00000171887.4																			0				breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(23)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	79						c.(3346-3348)Cgc>Tgc		tensin 1		G	CYS/ARG	0,4406		0,0,2203	38	43	41		3346	3.9	1	2	dbSNP_134	41	3,8597	3.0+/-9.4	0,3,4297	yes	missense	TNS1	NM_022648.4	180	0,3,6500	AA,AG,GG		0.0349,0.0,0.0231	probably-damaging	1116/1736	218683397	3,13003	2203	4300	6503	SO:0001583	missense	7145					cytoplasm|cytoskeleton|focal adhesion	actin binding	g.chr2:218683397G>A	AB209238	CCDS2407.1	2q35-q36	2014-06-13	2005-05-13	2005-05-13	ENSG00000079308	ENSG00000079308		"Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs", "SH2 domain containing"	11973	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 155"	600076	"tensin", "matrix-remodelling associated 6"	TNS, MXRA6			Standard	NM_022648		Approved	DKFZp586K0617, PPP1R155	uc002vgt.2	Q9HBL0	OTTHUMG00000133056	ENST00000171887.4:c.3346C>T	2.37:g.218683397G>A	ENSP00000171887:p.Arg1116Cys					TNS1_ENST00000430930.1_Missense_Mutation_p.R1095C|TNS1_ENST00000419504.1_Missense_Mutation_p.R1103C	p.R1116C	NM_022648.4	NP_072174.3	Q9HBL0	TENS1_HUMAN		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)	24	3798	-		Renal(207;0.0483)|Lung NSC(271;0.213)	1116			Ser-rich.		Q4ZG71|Q6IPI5	Missense_Mutation	SNP	ENST00000171887.4	37	c.3346C>T	CCDS2407.1	.	.	.	.	.	.	.	.	.	.	G	13.07	2.128493	0.37533	0.0	3.49E-4	ENSG00000079308	ENST00000171887;ENST00000446688;ENST00000419504;ENST00000430930	D;T;D;D	0.91945	-2.94;2.07;-2.94;-2.94	4.74	3.87	0.44632	.	0.758651	0.12681	N	0.448019	D	0.91012	0.7173	L	0.34521	1.04	0.80722	D	1	D;D;D	0.76494	0.999;0.998;0.996	P;P;P	0.56343	0.796;0.72;0.551	D	0.88520	0.3095	10	0.62326	D	0.03	.	8.1008	0.30857	0.0798:0.0:0.7636:0.1566	.	1116;1095;1103	Q9HBL0;E9PGF5;E9PF55	TENS1_HUMAN;.;.	C	1116;254;1103;1095	ENSP00000171887:R1116C;ENSP00000394171:R254C;ENSP00000408724:R1103C;ENSP00000406016:R1095C	ENSP00000171887:R1116C	R	-	1	0	TNS1	218391642	1.000000	0.71417	0.997000	0.53966	0.169000	0.22640	4.040000	0.57333	1.237000	0.43756	-0.136000	0.14681	CGC		0.637	TNS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256672.2	NM_022648		42	58	0	0	0	1	0	42	58					A	218683397	G	A	218683397	3	1	242	1	0	0	0	0	1	0	0	0	16340	1116	39	2	1901	2	TNS1	2	218683397	Missense_Mutation	SNP	G	TCGA-HC-A632-01A-11D-A29Q-08	77692564	218683397	24515976	13	11365											
C2orf54	79919	broad.mit.edu	37	chr2	241827877	241827877	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggctggcgaagccctccacGcgctggtagatggcaccaag	8	6	14	13	3	0	1	0	0	0	1	1	2	1	1	3	4	1	4	3	4	3	1			TCGA-HC-A632-01A-11D-A29Q-08	TCGA-HC-A632-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62488eee-4473-454e-89d3-7102d7c34977	c00991ab-7597-4eaf-9574-ef30295beeb9	g.chr2:241827877G>A	ENST00000388934.4	-	4	1241	c.1083C>T	c.(1081-1083)cgC>cgT	p.R361R	C2orf54_ENST00000307486.8_Silent_p.R212R|C2orf54_ENST00000402775.2_Silent_p.R193R	NM_001085437.1	NP_001078906	Q08AI8	CB054_HUMAN	chromosome 2 open reading frame 54	361										haematopoietic_and_lymphoid_tissue(1)|lung(4)|prostate(1)	6		all_epithelial(40;3.99e-16)|Breast(86;2.35e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|Lung NSC(271;0.094)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;8.14e-32)|all cancers(36;4.77e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;4.88e-06)|Lung(119;0.000452)|LUSC - Lung squamous cell carcinoma(224;0.00415)|Colorectal(34;0.021)|COAD - Colon adenocarcinoma(134;0.15)		AGCCCTCCACGCGCTGGTAGA	0.736																																						ENST00000307486.8																			0				haematopoietic_and_lymphoid_tissue(1)|lung(4)|prostate(1)	6						c.(634-636)cgC>cgT		chromosome 2 open reading frame 54							7	11	9					2																	241827877		2008	4107	6115	SO:0001819	synonymous_variant	79919							g.chr2:241827877G>A	AK026324, AK056601	CCDS42839.1, CCDS42840.1, CCDS63187.1	2q37.3	2011-02-23			ENSG00000172478	ENSG00000172478			26216	protein-coding gene	gene with protein product							Standard	NM_001282921		Approved	FLJ22671	uc002wae.4	Q08AI8	OTTHUMG00000151906	ENST00000388934.4:c.1083C>T	2.37:g.241827877G>A						C2orf54_ENST00000388934.4_Silent_p.R361R|C2orf54_ENST00000402775.2_Silent_p.R193R	p.R212R			Q08AI8	CB054_HUMAN		Epithelial(32;8.14e-32)|all cancers(36;4.77e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;4.88e-06)|Lung(119;0.000452)|LUSC - Lung squamous cell carcinoma(224;0.00415)|Colorectal(34;0.021)|COAD - Colon adenocarcinoma(134;0.15)	4	734	-		all_epithelial(40;3.99e-16)|Breast(86;2.35e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|Lung NSC(271;0.094)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)	361					B3KPP9|H7BXM3|Q08AI9|Q53QU5|Q9H622	Silent	SNP	ENST00000388934.4	37	c.636C>T	CCDS42839.1																																																																																				0.736	C2orf54-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000324353.1	NM_024861, NM_001085437		7	26	0	0	0	1	0	7	26					A	241827877	G	A	241827877	2	1	242	1	0	0	0	0	0	0	0	1	2175	1074	38	1		1	C2orf54	2	241827877	Silent	SNP	G	TCGA-HC-A632-01A-11D-A29Q-08	23144480	241827877	1371496	14	11366											
AGTR1	185	broad.mit.edu	37	chr3	148459144	148459144	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtaagattgcttcagccagcGtcagtttcaacctgtacgct	9	12	9	11	2	3	1	3	0	0	1	3	1	3	1	2	0	5	5	2	0	3	5	rs373362261		TCGA-HC-A632-01A-11D-A29Q-08	TCGA-HC-A632-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62488eee-4473-454e-89d3-7102d7c34977	c00991ab-7597-4eaf-9574-ef30295beeb9	g.chr3:148459144G>A	ENST00000497524.1	+	2	713	c.322G>A	c.(322-324)Gtc>Atc	p.V108I	AGTR1_ENST00000418473.2_Missense_Mutation_p.V108I|AGTR1_ENST00000349243.3_Missense_Mutation_p.V108I|AGTR1_ENST00000461609.1_Missense_Mutation_p.V108I|AGTR1_ENST00000404754.2_Missense_Mutation_p.V108I|AGTR1_ENST00000474935.1_Missense_Mutation_p.V108I|AGTR1_ENST00000475347.1_Missense_Mutation_p.V108I|AGTR1_ENST00000542281.1_Missense_Mutation_p.V108I|AGTR1_ENST00000402260.1_Missense_Mutation_p.V108I	NM_009585.3	NP_033611.1	P30556	AGTR1_HUMAN	angiotensin II receptor, type 1	108					angiotensin-activated signaling pathway (GO:0038166)|calcium-mediated signaling (GO:0019722)|cell chemotaxis (GO:0060326)|G-protein coupled receptor signaling pathway (GO:0007186)|kidney development (GO:0001822)|low-density lipoprotein particle remodeling (GO:0034374)|phospholipase C-activating angiotensin-activated signaling pathway (GO:0086097)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of cholesterol esterification (GO:0010873)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of inflammatory response (GO:0050729)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of NAD(P)H oxidase activity (GO:0033864)|positive regulation of phospholipase A2 activity (GO:0032430)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|regulation of blood vessel size by renin-angiotensin (GO:0002034)|regulation of cell growth (GO:0001558)|regulation of cell proliferation (GO:0042127)|regulation of inflammatory response (GO:0050727)|regulation of renal sodium excretion (GO:0035813)|regulation of systemic arterial blood pressure by renin-angiotensin (GO:0003081)|regulation of vasoconstriction (GO:0019229)|regulation of vasodilation (GO:0042312)|renin-angiotensin regulation of aldosterone production (GO:0002018)|Rho protein signal transduction (GO:0007266)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	angiotensin type I receptor activity (GO:0001596)|angiotensin type II receptor activity (GO:0004945)|bradykinin receptor binding (GO:0031711)|protein heterodimerization activity (GO:0046982)			breast(4)|endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30			LUSC - Lung squamous cell carcinoma(72;0.127)|Lung(72;0.152)		Azilsartan medoxomil(DB08822)|Candesartan(DB00796)|Eprosartan(DB00876)|Forasartan(DB01342)|Irbesartan(DB01029)|Losartan(DB00678)|Olmesartan(DB00275)|Saprisartan(DB01347)|Tasosartan(DB01349)|Telmisartan(DB00966)|Valsartan(DB00177)	TTCAGCCAGCGTCAGTTTCAA	0.478																																						ENST00000542281.1																			0				breast(4)|endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						c.(322-324)Gtc>Atc		angiotensin II receptor, type 1	Candesartan(DB00796)|Eprosartan(DB00876)|Forasartan(DB01342)|Irbesartan(DB01029)|Losartan(DB00678)|Olmesartan(DB00275)|Saprisartan(DB01347)|Spironolactone(DB00421)|Tasosartan(DB01349)|Telmisartan(DB00966)|Valsartan(DB00177)	G	ILE/VAL,ILE/VAL,ILE/VAL,ILE/VAL,ILE/VAL	0,4406		0,0,2203	95	92	93		322,322,322,322,322	2.2	1	3		93	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense,missense	AGTR1	NM_000685.4,NM_004835.3,NM_009585.3,NM_031850.2,NM_032049.2	29,29,29,29,29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign,benign,benign,benign,benign	108/360,108/360,108/360,108/360,108/360	148459144	1,13005	2203	4300	6503	SO:0001583	missense	185				calcium-mediated signaling|cell chemotaxis|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|kidney development|low-density lipoprotein particle remodeling|positive regulation of cellular protein metabolic process|positive regulation of cholesterol esterification|positive regulation of inflammatory response|positive regulation of NAD(P)H oxidase activity|positive regulation of phospholipase A2 activity|positive regulation of reactive oxygen species metabolic process|regulation of cell growth|regulation of cell proliferation|regulation of renal sodium excretion|regulation of vasoconstriction|renin-angiotensin regulation of aldosterone production|Rho protein signal transduction		acetyltransferase activator activity|angiotensin type I receptor activity|angiotensin type II receptor activity|bradykinin receptor binding|protein heterodimerization activity	g.chr3:148459144G>A	M87290	CCDS3137.1	3q24	2012-08-08	2002-02-20		ENSG00000144891	ENSG00000144891		"GPCR / Class A : Angiotensin receptors"	336	protein-coding gene	gene with protein product		106165	"angiotensin receptor 1B"	AGTR1B		1550596	Standard	NM_009585		Approved	AT1, AT2R1, AGTR1A, AT2R1A, HAT1R, AG2S, AT2R1B, AT1B	uc003ewh.4	P30556	OTTHUMG00000159503	ENST00000497524.1:c.322G>A	3.37:g.148459144G>A	ENSP00000419422:p.Val108Ile					AGTR1_ENST00000404754.2_Missense_Mutation_p.V108I|AGTR1_ENST00000474935.1_Missense_Mutation_p.V108I|AGTR1_ENST00000475347.1_Missense_Mutation_p.V108I|AGTR1_ENST00000497524.1_Missense_Mutation_p.V108I|AGTR1_ENST00000461609.1_Missense_Mutation_p.V108I|AGTR1_ENST00000349243.3_Missense_Mutation_p.V108I|AGTR1_ENST00000402260.1_Missense_Mutation_p.V108I|AGTR1_ENST00000418473.2_Missense_Mutation_p.V108I	p.V108I	NM_031850.3	NP_114038.4	P30556	AGTR1_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.127)|Lung(72;0.152)		4	768	+			108					Q13725|Q8TBK4	Missense_Mutation	SNP	ENST00000497524.1	37	c.322G>A	CCDS3137.1	.	.	.	.	.	.	.	.	.	.	G	4.361	0.066561	0.08388	0.0	1.16E-4	ENSG00000144891	ENST00000497524;ENST00000349243;ENST00000542281;ENST00000418473;ENST00000404754;ENST00000475347;ENST00000474935;ENST00000461609;ENST00000402260	T;T;T;T;T;T;T;T;T	0.36699	1.24;1.24;1.24;1.24;1.24;1.24;1.24;1.24;1.24	5.48	2.24	0.28232	GPCR, rhodopsin-like superfamily (1);	0.470389	0.21792	N	0.069041	T	0.13030	0.0316	N	0.02802	-0.49	0.22754	N	0.998774	B	0.02656	0.0	B	0.06405	0.002	T	0.30001	-0.9993	10	0.09338	T	0.73	-11.4653	9.24	0.37491	0.3835:0.0:0.6165:0.0	.	108	P30556	AGTR1_HUMAN	I	108	ENSP00000419422:V108I;ENSP00000273430:V108I;ENSP00000443186:V108I;ENSP00000398832:V108I;ENSP00000385612:V108I;ENSP00000419783:V108I;ENSP00000418084:V108I;ENSP00000418851:V108I;ENSP00000385641:V108I	ENSP00000273430:V108I	V	+	1	0	AGTR1	149941834	1.000000	0.71417	0.972000	0.41901	0.995000	0.86356	3.436000	0.52856	0.674000	0.31244	0.655000	0.94253	GTC		0.478	AGTR1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355807.1			50	80	0	0	0	1	0	50	80					A	148459144	G	A	148459144	3	1	242	1	0	0	0	0	1	0	0	0	401	1145	40	1	324	1	AGTR1	3	148459144	Missense_Mutation	SNP	G	TCGA-HC-A632-01A-11D-A29Q-08		148459144	49563286	15	11367											
PLCH1	23007	broad.mit.edu	37	chr3	155198914	155198914	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttcaaggccaccccctttcGtgttcttcaggtagcctgcg	5	12	9	15	2	3	0	2	0	1	0	4	0	3	0	4	2	2	2	4	2	2	5	rs200586305		TCGA-HC-A632-01A-11D-A29Q-08	TCGA-HC-A632-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62488eee-4473-454e-89d3-7102d7c34977	c00991ab-7597-4eaf-9574-ef30295beeb9	g.chr3:155198914G>A	ENST00000340059.7	-	23	4924	c.4925C>T	c.(4924-4926)aCg>aTg	p.T1642M	PLCH1_ENST00000447496.2_3'UTR|PLCH1_ENST00000334686.6_Missense_Mutation_p.T1604M|PLCH1_ENST00000414191.1_Missense_Mutation_p.T1604M|PLCH1_ENST00000494598.1_Intron|PLCH1_ENST00000460012.1_Missense_Mutation_p.T1604M	NM_001130960.1	NP_001124432.1	Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	1642					inositol phosphate metabolic process (GO:0043647)|lipid catabolic process (GO:0016042)|phosphatidylinositol-mediated signaling (GO:0048015)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent phospholipase C activity (GO:0050429)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871)			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			ACCCCCTTTCGTGTTCTTCAG	0.557																																						ENST00000460012.1																			0				NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107						c.(4810-4812)aCg>aTg		phospholipase C, eta 1		G	MET/THR,,MET/THR	1,4405	2.1+/-5.4	0,1,2202	60	64	63		4925,,4811	-2.5	0	3		63	0,8600		0,0,4300	no	missense,utr-3,missense	PLCH1	NM_001130960.1,NM_001130961.1,NM_014996.2	81,,81	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign,,benign	1642/1694,,1604/1656	155198914	1,13005	2203	4300	6503	SO:0001583	missense	23007				lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr3:155198914G>A	AB028992	CCDS33881.1, CCDS46939.1, CCDS46940.1	3q25	2013-01-10	2006-03-16	2006-03-16	ENSG00000114805	ENSG00000114805	3.1.4.11	"EF-hand domain containing"	29185	protein-coding gene	gene with protein product		612835	"phospholipase C-like 3"	PLCL3		15702972	Standard	NM_014996		Approved	KIAA1069, MGC117152, DKFZp434C1372, PLCeta1	uc021xge.1	Q4KWH8	OTTHUMG00000158477	ENST00000340059.7:c.4925C>T	3.37:g.155198914G>A	ENSP00000345988:p.Thr1642Met					PLCH1_ENST00000334686.6_Missense_Mutation_p.T1604M|PLCH1_ENST00000447496.2_3'UTR|PLCH1_ENST00000414191.1_Missense_Mutation_p.T1604M|PLCH1_ENST00000340059.7_Missense_Mutation_p.T1642M|PLCH1_ENST00000494598.1_Intron	p.T1604M			Q4KWH8	PLCH1_HUMAN	Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)		23	5168	-			1642					Q29RV9|Q4KWH9|Q68CN0|Q86XK4|Q9H9U2|Q9UPT3	Missense_Mutation	SNP	ENST00000340059.7	37	c.4811C>T	CCDS46939.1	.	.	.	.	.	.	.	.	.	.	G	1.576	-0.532827	0.04112	2.27E-4	0.0	ENSG00000114805	ENST00000460012;ENST00000340059;ENST00000334686;ENST00000414191	T;T;T;T	0.20069	2.1;2.1;2.1;2.1	4.86	-2.48	0.06423	.	3.732820	0.00610	N	0.000408	T	0.07234	0.0183	N	0.02011	-0.69	0.09310	N	1	B;B	0.13145	0.007;0.004	B;B	0.09377	0.004;0.002	T	0.17137	-1.0379	10	0.23891	T	0.37	.	2.4575	0.04533	0.5469:0.1593:0.162:0.1318	.	1604;1642	Q4KWH8-2;Q4KWH8	.;PLCH1_HUMAN	M	1604;1642;1604;1604	ENSP00000417502:T1604M;ENSP00000345988:T1642M;ENSP00000335469:T1604M;ENSP00000412977:T1604M	ENSP00000335469:T1604M	T	-	2	0	PLCH1	156681608	.	.	0.000000	0.03702	0.252000	0.25951	.	.	-0.327000	0.08551	-0.732000	0.03574	ACG		0.557	PLCH1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000351125.1	NM_014996		12	89	0	0	0	1	0	12	89					A	155198914	G	A	155198914	3	1	242	1	0	0	0	0	1	0	0	0	12037	1145	40	1	160	1	PLCH1	3	155198914	Missense_Mutation	SNP	G	TCGA-HC-A632-01A-11D-A29Q-08	6739770	155198914	42823516	16	11368											
RUFY3	22902	broad.mit.edu	37	chr4	71640889	71640889	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cttccccttcccccagagacGgtcagattactgcaattctg	8	11	7	15	1	2	2	1	0	1	2	4	3	4	2	4	1	2	1	4	1	2	4			TCGA-HC-A632-01A-11D-A29Q-08	TCGA-HC-A632-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62488eee-4473-454e-89d3-7102d7c34977	c00991ab-7597-4eaf-9574-ef30295beeb9	g.chr4:71640889G>T	ENST00000226328.4	+	7	1326	c.763G>T	c.(763-765)Ggt>Tgt	p.G255C	RUFY3_ENST00000417478.2_Missense_Mutation_p.G315C|RUFY3_ENST00000502653.1_Missense_Mutation_p.G202C|RUFY3_ENST00000536664.1_Missense_Mutation_p.G239C|RUFY3_ENST00000381006.3_Missense_Mutation_p.G255C	NM_014961.3	NP_055776.1	Q7L099	RUFY3_HUMAN	RUN and FYVE domain containing 3	255					negative regulation of axonogenesis (GO:0050771)	filopodium (GO:0030175)|growth cone (GO:0030426)				endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)	16		all_hematologic(202;0.248)	Lung(101;0.235)			CCCCAGAGACGGTCAGATTAC	0.358																																						ENST00000226328.4																			0				endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)	16						c.(763-765)Ggt>Tgt		RUN and FYVE domain containing 3							59	62	61					4																	71640889		2203	4300	6503	SO:0001583	missense	22902				negative regulation of axonogenesis	filopodium|growth cone		g.chr4:71640889G>T	AF112221	CCDS3547.1, CCDS34001.1, CCDS47068.1, CCDS75138.1	4q13.3	2009-05-29			ENSG00000018189	ENSG00000018189		"Zinc fingers, FYVE domain containing"	30285	protein-coding gene	gene with protein product	"single axon-related 1"	611194				17439943	Standard	NM_001130709		Approved	RIPx, KIAA0871, Singar1	uc003hfr.3	Q7L099	OTTHUMG00000129910	ENST00000226328.4:c.763G>T	4.37:g.71640889G>T	ENSP00000226328:p.Gly255Cys					RUFY3_ENST00000381006.3_Missense_Mutation_p.G255C|RUFY3_ENST00000502653.1_Missense_Mutation_p.G202C|RUFY3_ENST00000536664.1_Missense_Mutation_p.G239C|RUFY3_ENST00000417478.2_Missense_Mutation_p.G315C	p.G255C	NM_014961.3	NP_055776.1	Q7L099	RUFY3_HUMAN	Lung(101;0.235)		7	1326	+		all_hematologic(202;0.248)	255					B3KM25|B4DYW7|D9N163|O94948|Q9UI00	Missense_Mutation	SNP	ENST00000226328.4	37	c.763G>T	CCDS3547.1	.	.	.	.	.	.	.	.	.	.	G	24.9	4.586375	0.86851	.	.	ENSG00000018189	ENST00000417478;ENST00000381006;ENST00000226328;ENST00000536664;ENST00000513597;ENST00000502653	T;T;T;T;T;T	0.23348	2.62;3.02;2.65;2.64;1.91;3.03	5.59	5.59	0.84812	.	0.773311	0.12961	N	0.425004	T	0.51176	0.1659	M	0.62723	1.935	0.80722	D	1	D;D;D;D	0.76494	0.996;0.999;0.999;0.998	P;D;D;D	0.65874	0.899;0.939;0.931;0.936	T	0.42327	-0.9458	10	0.59425	D	0.04	-13.3819	19.5491	0.95310	0.0:0.0:1.0:0.0	.	239;255;255;315	B4DKC2;Q7L099-3;Q7L099;Q7L099-2	.;.;RUFY3_HUMAN;.	C	315;255;255;239;191;202	ENSP00000399771:G315C;ENSP00000370394:G255C;ENSP00000226328:G255C;ENSP00000443652:G239C;ENSP00000425574:G191C;ENSP00000425400:G202C	ENSP00000226328:G255C	G	+	1	0	RUFY3	71859753	1.000000	0.71417	1.000000	0.80357	0.761000	0.43186	9.245000	0.95431	2.788000	0.95919	0.585000	0.79938	GGT		0.358	RUFY3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252161.2	NM_014961		15	68	1	0	0.0332995	1	0.0349645	15	68					T	71640889	G	T	71640889	3	4	242	1	0	0	0	0	1	0	0	0	13740	1116	39	5	1151	5	RUFY3	4	71640889	Missense_Mutation	SNP	G	TCGA-HC-A632-01A-11D-A29Q-08		71640889	119513387	17	11369											
RAB33B	83452	broad.mit.edu	37	chr4	140393995	140393995	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atagaagaatgcaaacaacaTttgctagccaatgatatacc	18	9	6	8	0	0	3	0	1	0	2	0	3	0	3	2	0	6	2	2	0	9	5			TCGA-HC-A632-01A-11D-A29Q-08	TCGA-HC-A632-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62488eee-4473-454e-89d3-7102d7c34977	c00991ab-7597-4eaf-9574-ef30295beeb9	g.chr4:140393995T>C	ENST00000305626.5	+	2	794	c.405T>C	c.(403-405)caT>caC	p.H135H		NM_031296.1	NP_112586.1	Q9H082	RB33B_HUMAN	RAB33B, member RAS oncogene family	135					autophagy (GO:0006914)|GTP catabolic process (GO:0006184)|protein transport (GO:0015031)|regulation of autophagic vacuole assembly (GO:2000785)|regulation of retrograde vesicle-mediated transport, Golgi to ER (GO:2000156)|small GTPase mediated signal transduction (GO:0007264)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi lumen (GO:0005796)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	4	all_hematologic(180;0.162)					GCAAACAACATTTGCTAGCCA	0.393																																						ENST00000305626.5																			0				large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	4						c.(403-405)caT>caC		RAB33B, member RAS oncogene family							131	125	127					4																	140393995		2203	4300	6503	SO:0001819	synonymous_variant	83452				protein transport|small GTPase mediated signal transduction	Golgi membrane	GTP binding	g.chr4:140393995T>C	AF350420	CCDS3747.1	4q28	2008-02-05			ENSG00000172007	ENSG00000172007		"RAB, member RAS oncogene"	16075	protein-coding gene	gene with protein product		605950					Standard	NM_031296		Approved	DKFZP434G099	uc003ihv.3	Q9H082	OTTHUMG00000133384	ENST00000305626.5:c.405T>C	4.37:g.140393995T>C							p.H135H	NM_031296.1	NP_112586.1	Q9H082	RB33B_HUMAN			2	794	+	all_hematologic(180;0.162)		135					B2R987|Q4W5B0	Silent	SNP	ENST00000305626.5	37	c.405T>C	CCDS3747.1																																																																																				0.393	RAB33B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257235.2	NM_031296		53	75	0	0	0	1	0	53	75					C	140393995	T	C	140393995	2	2	242	1	0	0	0	0	0	0	0	1	12923	1490	52	4		4	RAB33B	4	140393995	Silent	SNP	T	TCGA-HC-A632-01A-11D-A29Q-08	68753106	140393995	50760281	18	11370											
ZNF827	152485	broad.mit.edu	37	chr4	146824152	146824152	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gtctcgcaggacctcactgtCcagtgccaccagctccaacg	8	7	9	17	2	2	0	1	0	1	0	5	1	4	1	5	1	3	2	5	1	1	0			TCGA-HC-A632-01A-11D-A29Q-08	TCGA-HC-A632-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62488eee-4473-454e-89d3-7102d7c34977	c00991ab-7597-4eaf-9574-ef30295beeb9	g.chr4:146824152C>A	ENST00000508784.1	-	2	486	c.259G>T	c.(259-261)Gac>Tac	p.D87Y	ZNF827_ENST00000379448.4_Missense_Mutation_p.D87Y|ZNF827_ENST00000513320.1_Intron			Q17R98	ZN827_HUMAN	zinc finger protein 827	87					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48	all_hematologic(180;0.151)					ACCTCACTGTCCAGTGCCACC	0.602																																						ENST00000508784.1																			0				NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						c.(259-261)Gac>Tac		zinc finger protein 827							72	63	66					4																	146824152		2203	4300	6503	SO:0001583	missense	152485				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr4:146824152C>A	AK091130	CCDS34072.1	4q31.22	2013-01-08			ENSG00000151612	ENSG00000151612		"Zinc fingers, C2H2-type"	27193	protein-coding gene	gene with protein product						12477932	Standard	NM_178835		Approved		uc003ikm.3	Q17R98	OTTHUMG00000161362	ENST00000508784.1:c.259G>T	4.37:g.146824152C>A	ENSP00000421863:p.Asp87Tyr					ZNF827_ENST00000379448.4_Missense_Mutation_p.D87Y|ZNF827_ENST00000513320.1_Intron	p.D87Y			Q17R98	ZN827_HUMAN			2	486	-	all_hematologic(180;0.151)		87					B7ZL52|Q7Z4S7|Q8N279	Missense_Mutation	SNP	ENST00000508784.1	37	c.259G>T		.	.	.	.	.	.	.	.	.	.	C	11.61	1.690427	0.29962	.	.	ENSG00000151612	ENST00000508784;ENST00000379448;ENST00000281318	T;T	0.11385	2.78;2.82	5.93	5.09	0.68999	.	0.086220	0.85682	D	0.000000	T	0.15696	0.0378	N	0.19112	0.55	0.53688	D	0.999979	P;P	0.51537	0.911;0.946	P;P	0.55161	0.594;0.77	T	0.02885	-1.1098	10	0.87932	D	0	-26.0842	15.1601	0.72778	0.0:0.9325:0.0:0.0675	.	87;87	Q17R98;Q17R98-2	ZN827_HUMAN;.	Y	87;87;86	ENSP00000421863:D87Y;ENSP00000368761:D87Y	ENSP00000281318:D86Y	D	-	1	0	ZNF827	147043602	1.000000	0.71417	0.051000	0.19133	0.328000	0.28507	7.416000	0.80143	1.524000	0.49035	-0.258000	0.10820	GAC		0.602	ZNF827-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000364654.2	NM_178835		27	40	1	0	1.1804e-14	1	1.32795e-14	27	40					A	146824152	C	A	146824152	3	1	242	1	0	0	0	0	1	0	0	0	18177	855	30	5	3022	5	ZNF827	4	146824152	Missense_Mutation	SNP	C	TCGA-HC-A632-01A-11D-A29Q-08	6430157	146824152	44330124	19	11371											
NKD2	85409	broad.mit.edu	37	chr5	1038447	1038449	+	In_Frame_Del	DEL	CAC	CAC	-																															agcaccaccaccaccacgagCaccaccaccaccaccaccac																								rs3840989		TCGA-HC-A632-01A-11D-A29Q-08	TCGA-HC-A632-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62488eee-4473-454e-89d3-7102d7c34977	c00991ab-7597-4eaf-9574-ef30295beeb9	g.chr5:1038447_1038449delCAC	ENST00000296849.5	+	10	1544_1546	c.1315_1317delCAC	c.(1315-1317)cacdel	p.H447del	NKD2_ENST00000274150.4_3'UTR|NKD2_ENST00000382730.2_In_Frame_Del_p.P86del	NM_033120.3	NP_149111.1	Q969F2	NKD2_HUMAN	naked cuticle homolog 2 (Drosophila)	447	His-rich.				exocytosis (GO:0006887)|Golgi vesicle fusion to target membrane (GO:0048210)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein processing (GO:0010954)|protein targeting to plasma membrane (GO:0072661)|Wnt signaling pathway (GO:0016055)	basolateral plasma membrane (GO:0016323)|cell periphery (GO:0071944)|cytoplasmic vesicle (GO:0031410)	calcium ion binding (GO:0005509)|growth factor binding (GO:0019838)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|central_nervous_system(3)|large_intestine(1)|lung(8)|pancreas(1)	14	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;3.28e-09)		Epithelial(17;0.00093)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00417)|Lung(60;0.165)			ccaccacgagcaccaccaccacc	0.69																																						ENST00000296849.5																			0				breast(1)|central_nervous_system(3)|large_intestine(1)|lung(8)|pancreas(1)	14						c.(1315-1317)del		naked cuticle homolog 2 (Drosophila)																																				SO:0001651	inframe_deletion	85409				exocytosis|Wnt receptor signaling pathway	cytoplasmic membrane-bounded vesicle|plasma membrane	calcium ion binding|ubiquitin protein ligase binding	g.chr5:1038447_1038449delCAC	AF358137	CCDS3859.1, CCDS59486.1	5p15.3	2013-01-10			ENSG00000145506	ENSG00000145506		"EF-hand domain containing"	17046	protein-coding gene	gene with protein product	"naked cuticle-2", "Dvl-binding protein NKD2"	607852				11356022, 11604995	Standard	NM_033120		Approved	Naked2	uc003jbt.2	Q969F2	OTTHUMG00000090348	ENST00000296849.5:c.1315_1317delCAC	5.37:g.1038456_1038458delCAC	ENSP00000296849:p.His447del					NKD2_ENST00000382730.2_In_Frame_Del_p.AP78del|NKD2_ENST00000274150.4_3'UTR	p.H447del	NM_033120.2	NP_149111.1	Q969F2	NKD2_HUMAN	Epithelial(17;0.00093)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00417)|Lung(60;0.165)		10	1544_1546	+	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;3.28e-09)		447			His-rich.		Q96EK8|Q9BSN0	In_Frame_Del	DEL	ENST00000296849.5	37	c.1315_1317delCAC	CCDS3859.1																																																																																				0.69	NKD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206720.2	NM_033120		2	4						2	4	---	---	---	---	-	1038449	CAC	-	1038447	7	5	242	1	0	1	0	1	0	0	0	0	10442	710	25	0	1353	0	NKD2	5	1038447	In_Frame_Del	DEL	CAC	TCGA-HC-A632-01A-11D-A29Q-08		1038447	179876813	20	11372											
DDX4	54514	broad.mit.edu	37	chr5	55094308	55094308	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tttgttgctgttggacaagtGggtggagcatgtagagatgt	8	14	16	3	0	0	1	0	0	0	1	0	4	0	3	0	3	2	5	0	3	2	4			TCGA-HC-A632-01A-11D-A29Q-08	TCGA-HC-A632-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62488eee-4473-454e-89d3-7102d7c34977	c00991ab-7597-4eaf-9574-ef30295beeb9	g.chr5:55094308G>A	ENST00000505374.1	+	18	1616	c.1524G>A	c.(1522-1524)gtG>gtA	p.V508V	DDX4_ENST00000353507.5_Silent_p.V474V|DDX4_ENST00000354991.5_Silent_p.V474V|DDX4_ENST00000511853.1_Silent_p.V359V|DDX4_ENST00000514278.2_Silent_p.V488V	NM_024415.2	NP_077726.1	Q9NQI0	DDX4_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 4	508					male meiosis I (GO:0007141)|multicellular organismal development (GO:0007275)|regulation of protein localization (GO:0032880)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|pi-body (GO:0071546)|piP-body (GO:0071547)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|nucleic acid binding (GO:0003676)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)	24		Lung NSC(810;6.93e-05)|all_neural(839;0.00409)|Prostate(74;0.0107)|Breast(144;0.0544)|Ovarian(174;0.223)				TTGGACAAGTGGGTGGAGCAT	0.393																																						ENST00000505374.1																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)	24						c.(1522-1524)gtG>gtA		DEAD (Asp-Glu-Ala-Asp) box polypeptide 4							166	164	164					5																	55094308		2203	4300	6503	SO:0001819	synonymous_variant	54514				multicellular organismal development|sperm motility	perinuclear region of cytoplasm|pi-body|piP-body	ATP binding|ATP-dependent helicase activity|nucleic acid binding	g.chr5:55094308G>A	AF262962	CCDS3969.1, CCDS47208.1, CCDS54854.1, CCDS54855.1	5p15.2-p13.1	2008-02-05	2003-06-13		ENSG00000152670	ENSG00000152670		"DEAD-boxes"	18700	protein-coding gene	gene with protein product		605281	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 4"			10920202, 11850529	Standard	NM_001142549		Approved	VASA	uc003jqg.4	Q9NQI0	OTTHUMG00000097044	ENST00000505374.1:c.1524G>A	5.37:g.55094308G>A						DDX4_ENST00000511853.1_Silent_p.V359V|DDX4_ENST00000354991.5_Silent_p.V474V|DDX4_ENST00000514278.2_Silent_p.V488V|DDX4_ENST00000353507.5_Silent_p.V474V	p.V508V	NM_024415.2	NP_077726.1	Q9NQI0	DDX4_HUMAN			18	1616	+		Lung NSC(810;6.93e-05)|all_neural(839;0.00409)|Prostate(74;0.0107)|Breast(144;0.0544)|Ovarian(174;0.223)	508					A8K8Q2|B3KSF4|D6RDK4|E9PCD8|Q5M7Z3|Q86VX0|Q9NT92|Q9NYB1	Silent	SNP	ENST00000505374.1	37	c.1524G>A	CCDS3969.1																																																																																				0.393	DDX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214147.2	NM_024415		27	101	0	0	0	1	0	27	101					A	55094308	G	A	55094308	2	1	242	1	0	0	0	0	0	0	0	1	4360	1335	47	3		3	DDX4	5	55094308	Silent	SNP	G	TCGA-HC-A632-01A-11D-A29Q-08	54055861	55094308	125820952	21	11373											
APC	324	broad.mit.edu	37	chr5	112179432	112179432	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	taatggcagtgttcccatgcGtaccgtgggtttggaaaatc	9	12	12	8	2	0	0	0	0	0	0	2	1	1	1	2	3	2	4	2	3	4	4			TCGA-HC-A632-01A-11D-A29Q-08	TCGA-HC-A632-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62488eee-4473-454e-89d3-7102d7c34977	c00991ab-7597-4eaf-9574-ef30295beeb9	g.chr5:112179432G>A	ENST00000457016.1	+	16	8521	c.8141G>A	c.(8140-8142)cGt>cAt	p.R2714H	CTC-554D6.1_ENST00000520401.1_Intron|APC_ENST00000257430.4_Missense_Mutation_p.R2714H|APC_ENST00000508376.2_Missense_Mutation_p.R2714H			P25054	APC_HUMAN	adenomatous polyposis coli	2714	Ser-rich.				anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|axis specification (GO:0009798)|axonogenesis (GO:0007409)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|canonical Wnt signaling pathway involved in positive regulation of apoptotic process (GO:0044337)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to DNA damage stimulus (GO:0006974)|chromosome organization (GO:0051276)|cytoplasmic microtubule organization (GO:0031122)|dorsal/ventral pattern formation (GO:0009953)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cytokinesis (GO:0000281)|mitotic spindle assembly checkpoint (GO:0007094)|muscle cell cellular homeostasis (GO:0046716)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of odontogenesis (GO:0042483)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell division (GO:0051781)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of pseudopodium assembly (GO:0031274)|protein complex assembly (GO:0006461)|proximal/distal pattern formation (GO:0009954)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|regulation of microtubule-based process (GO:0032886)|regulation of nitrogen compound metabolic process (GO:0051171)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoclast differentiation (GO:0045670)|retina development in camera-type eye (GO:0060041)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tight junction assembly (GO:0070830)	axonal growth cone (GO:0044295)|beta-catenin destruction complex (GO:0030877)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|kinetochore (GO:0000776)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|microtubule plus-end (GO:0035371)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)	beta-catenin binding (GO:0008013)|gamma-catenin binding (GO:0045295)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|protein kinase binding (GO:0019901)|protein kinase regulator activity (GO:0019887)	p.R2714H(1)|p.?(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		GTTCCCATGCGTACCGTGGGT	0.423		12	"D, Mis, N, F, S"		"colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"	"colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)																											NSCLC(107;854 1218 9699 17025 28335 47076 52975)|Esophageal Squamous(32;282 584 32991 36563 39392 49665 50115)	ENST00000457016.1		12	yes	Rec	yes	Adenomatous polyposis coli; Turcot syndrome	5	5q21	324	"D, Mis, N, F, S"	adenomatous polyposis of the colon gene			"E, M, O"		"colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"	"colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"		2	Substitution - Missense(1)|Unknown(1)	p.R2714H(1)|p.?(1)	endometrium(1)|skin(1)	NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261						c.(8140-8142)cGt>cAt		adenomatous polyposis coli							102	101	101					5																	112179432		2202	4300	6502	SO:0001583	missense	324	Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome;Familial Infiltrative Mesenteric Fibromatosis;FAP, incl.: Gardner s., Attenuated FAP, Flat Adenoma s., Oldfield s,	canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly	adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction	beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity	g.chr5:112179432G>A	M74088	CCDS4107.1	5q21-q22	2014-09-17	2008-01-08		ENSG00000134982	ENSG00000134982		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "Armadillo repeat containing"	583	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 46"	611731	"adenomatosis polyposis coli"			1651563	Standard	NM_001127511		Approved	DP2, DP3, DP2.5, PPP1R46	uc003kpy.4	P25054	OTTHUMG00000128806	ENST00000457016.1:c.8141G>A	5.37:g.112179432G>A	ENSP00000413133:p.Arg2714His	TSP Lung(16;0.13)				APC_ENST00000508376.2_Missense_Mutation_p.R2714H|APC_ENST00000257430.4_Missense_Mutation_p.R2714H|CTC-554D6.1_ENST00000520401.1_Intron	p.R2714H			P25054	APC_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)	16	8521	+		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)	2714			Ser-rich.		D3DT03|Q15162|Q15163|Q93042	Missense_Mutation	SNP	ENST00000457016.1	37	c.8141G>A	CCDS4107.1	.	.	.	.	.	.	.	.	.	.	G	7.962	0.747236	0.15710	.	.	ENSG00000134982	ENST00000457016;ENST00000257430;ENST00000508376	T;T;T	0.80653	-1.4;-1.4;-1.4	6.17	5.24	0.73138	EB-1 binding (1);	0.398468	0.27052	N	0.021175	T	0.65749	0.2721	N	0.24115	0.695	0.23277	N	0.997998	B;B	0.06786	0.001;0.001	B;B	0.08055	0.003;0.001	T	0.50972	-0.8764	9	.	.	.	-0.2176	8.1829	0.31322	0.1251:0.0:0.8749:0.0	.	2716;2714	Q4LE70;P25054	.;APC_HUMAN	H	2714	ENSP00000413133:R2714H;ENSP00000257430:R2714H;ENSP00000427089:R2714H	.	R	+	2	0	APC	112207331	0.519000	0.26242	0.064000	0.19789	0.713000	0.41058	3.096000	0.50243	1.427000	0.47276	0.655000	0.94253	CGT		0.423	APC-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250738.2	NM_000038		33	96	0	0	0	1	0	33	96					A	112179432	G	A	112179432	3	1	242	1	0	0	0	0	1	0	0	0	763	1145	40	1	8199	1	APC	5	112179432	Missense_Mutation	SNP	G	TCGA-HC-A632-01A-11D-A29Q-08	57085124	112179432	68735828	22	11374											
PCDHB7	56129	broad.mit.edu	37	chr5	140553173	140553173	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctacaaggtgcaggtgcccGaaaatagccccgttggttcc	9	9	11	12	2	1	0	0	0	1	0	2	1	2	0	4	3	4	3	4	3	5	4			TCGA-HC-A632-01A-11D-A29Q-08	TCGA-HC-A632-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62488eee-4473-454e-89d3-7102d7c34977	c00991ab-7597-4eaf-9574-ef30295beeb9	g.chr5:140553173G>T	ENST00000231137.3	+	1	931	c.757G>T	c.(757-759)Gaa>Taa	p.E253*		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN	protocadherin beta 7	253	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.E253K(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCAGGTGCCCGAAAATAGCCC	0.517																																						ENST00000231137.3																			1	Substitution - Missense(1)	p.E253K(1)	large_intestine(1)	NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						c.(757-759)Gaa>Taa									65	70	69					5																	140553173		2203	4300	6503	SO:0001587	stop_gained	0				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140553173G>T	AF152500	CCDS4249.1	5q31	2010-01-26			ENSG00000113212	ENSG00000113212		"Cadherins / Protocadherins : Clustered"	8692	other	protocadherin		606333				10380929	Standard	NM_018940		Approved	PCDH-BETA7	uc003lit.3	Q9Y5E2	OTTHUMG00000129608	ENST00000231137.3:c.757G>T	5.37:g.140553173G>T	ENSP00000231137:p.Glu253*						p.E253*	NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	931	+			253			Cadherin 3.		A1L3Y8	Nonsense_Mutation	SNP	ENST00000231137.3	37	c.757G>T	CCDS4249.1	.	.	.	.	.	.	.	.	.	.	G	19.55	3.849173	0.71603	.	.	ENSG00000113212	ENST00000231137;ENST00000543636	.	.	.	4.61	4.61	0.57282	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	17.4139	0.87494	0.0:0.0:1.0:0.0	.	.	.	.	X	253;36	.	ENSP00000231137:E253X	E	+	1	0	PCDHB7	140533357	1.000000	0.71417	0.034000	0.17996	0.077000	0.17291	9.783000	0.99037	2.248000	0.74166	0.655000	0.94253	GAA		0.517	PCDHB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251803.2	NM_018940		47	70	1	0	1.22102e-19	1	1.39862e-19	47	70					T	140553173	G	T	140553173	4	4	242	1	0	0	0	0	0	1	0	0	11547	1059	37	5	759	5	PCDHB7	5	140553173	Nonsense_Mutation	SNP	G	TCGA-HC-A632-01A-11D-A29Q-08	28373741	140553173	40362087	23	11375											
GCNT2	2651	broad.mit.edu	37	chr6	10529594	10529594	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctcagctgcttcccaaatgcTtttctggcttccaagaagga	9	12	8	12	0	2	1	1	0	1	1	4	2	4	2	2	2	3	4	2	2	3	4			TCGA-HC-A632-01A-11D-A29Q-08	TCGA-HC-A632-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62488eee-4473-454e-89d3-7102d7c34977	c00991ab-7597-4eaf-9574-ef30295beeb9	g.chr6:10529594T>A	ENST00000379597.3	+	1	1006	c.450T>A	c.(448-450)gcT>gcA	p.A150A	GCNT2_ENST00000495262.1_Silent_p.A150A|GCNT2_ENST00000397423.2_Intron|GCNT2_ENST00000410107.1_Intron			Q8N0V5	GNT2A_HUMAN	glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (I blood group)	150					maintenance of lens transparency (GO:0036438)|negative regulation of cell-substrate adhesion (GO:0010812)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of protein kinase B signaling (GO:0051897)|posttranscriptional regulation of gene expression (GO:0010608)|protein glycosylation (GO:0006486)|transforming growth factor beta receptor signaling pathway (GO:0007179)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity (GO:0008109)			endometrium(2)|kidney(1)|large_intestine(5)|lung(2)|ovary(2)	12	Ovarian(93;0.107)|Breast(50;0.148)	all_hematologic(90;0.107)		KIRC - Kidney renal clear cell carcinoma(1;0.099)|Kidney(1;0.119)		TCCCAAATGCTTTTCTGGCTT	0.512																																						ENST00000379597.3																			0				endometrium(2)|kidney(1)|large_intestine(5)|lung(2)|ovary(2)	12						c.(448-450)gcT>gcA		glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (I blood group)							67	62	63					6																	10529594		2203	4300	6503	SO:0001819	synonymous_variant	2651					Golgi membrane|integral to membrane	N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity	g.chr6:10529594T>A	L41605	CCDS4512.1, CCDS4513.1, CCDS34338.1	6p24.2	2014-07-18	2006-02-23		ENSG00000111846	ENSG00000111846	2.4.1.150	"Blood group antigens", "Glucosaminyl (N-acetyl) transferase and xylosyltransferase family"	4204	protein-coding gene	gene with protein product	"Ii blood group", "unassigned linkage group 3"	600429	"glucosaminyl (N-acetyl) transferase 5", "glucosaminyl (N-acetyl) transferase 2, I-branching enzyme", "glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (Ii blood group)", "cataract, congenital"	NACGT1, II, GCNT5, CCAT		8449405, 9915862	Standard	NM_145649		Approved	IGNT, NAGCT1, bA421M1.1, bA360O19.2, ULG3	uc003mze.3	Q06430	OTTHUMG00000014244	ENST00000379597.3:c.450T>A	6.37:g.10529594T>A						GCNT2_ENST00000495262.1_Silent_p.A150A|GCNT2_ENST00000410107.1_Intron|GCNT2_ENST00000397423.2_Intron	p.A150A			Q8N0V5	GNT2A_HUMAN		KIRC - Kidney renal clear cell carcinoma(1;0.099)|Kidney(1;0.119)	1	1006	+	Ovarian(93;0.107)|Breast(50;0.148)	all_hematologic(90;0.107)	150						Silent	SNP	ENST00000379597.3	37	c.450T>A	CCDS34338.1																																																																																				0.512	GCNT2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000327912.3	NM_145649		39	56	0	0	0	1	0	39	56					A	10529594	T	A	10529594	2	1	242	1	0	0	0	0	0	0	0	1	6301	1596	56	5		5	GCNT2	6	10529594	Silent	SNP	T	TCGA-HC-A632-01A-11D-A29Q-08		10529594	160585473	24	11376											
IL17A	3605	broad.mit.edu	37	chr6	52053926	52053926	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gccacttgggctgcatcaacGctgatgggaacgtggactac	9	8	13	11	2	1	1	1	1	0	0	1	3	1	3	1	3	4	3	1	3	3	2			TCGA-HC-A632-01A-11D-A29Q-08	TCGA-HC-A632-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62488eee-4473-454e-89d3-7102d7c34977	c00991ab-7597-4eaf-9574-ef30295beeb9	g.chr6:52053926G>A	ENST00000340057.1	+	3	349	c.304G>A	c.(304-306)Gct>Act	p.A102T		NM_002190.2	NP_002181.1	Q16552	IL17_HUMAN	interleukin 17A	102					apoptotic process (GO:0006915)|cell death (GO:0008219)|cell-cell signaling (GO:0007267)|cellular response to interleukin-1 (GO:0071347)|fibroblast activation (GO:0072537)|immune response (GO:0006955)|inflammatory response (GO:0006954)|positive regulation of cytokine production involved in inflammatory response (GO:1900017)|positive regulation of interleukin-23 production (GO:0032747)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein glycosylation (GO:0006486)	external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)	cytokine activity (GO:0005125)			endometrium(3)|large_intestine(2)|lung(8)|prostate(3)|skin(1)	17	Lung NSC(77;0.116)					CTGCATCAACGCTGATGGGAA	0.582																																						ENST00000340057.1																			0				endometrium(3)|large_intestine(2)|lung(8)|prostate(3)|skin(1)	17						c.(304-306)Gct>Act		interleukin 17A							86	72	77					6																	52053926		2203	4300	6503	SO:0001583	missense	3605				apoptosis|cell-cell signaling|fibroblast activation|immune response|inflammatory response|positive regulation of interleukin-23 production|positive regulation of osteoclast differentiation|positive regulation of transcription from RNA polymerase II promoter|protein glycosylation	extracellular space	cytokine activity	g.chr6:52053926G>A	U32659	CCDS4937.1	6p12	2011-07-14	2006-04-26	2006-04-26	ENSG00000112115	ENSG00000112115		"Interleukins and interleukin receptors"	5981	protein-coding gene	gene with protein product	"cytotoxic T-lymphocyte-associated protein 8"	603149	"interleukin 17 (cytotoxic T-lymphocyte-associated serine esterase 8)"	CTLA8, IL17		8390535	Standard	NM_002190		Approved	IL-17A, IL-17	uc003pak.1	Q16552	OTTHUMG00000014840	ENST00000340057.1:c.304G>A	6.37:g.52053926G>A	ENSP00000344192:p.Ala102Thr						p.A102T	NM_002190.2	NP_002181.1	Q16552	IL17_HUMAN			3	349	+	Lung NSC(77;0.116)		102					Q5T2P0	Missense_Mutation	SNP	ENST00000340057.1	37	c.304G>A	CCDS4937.1	.	.	.	.	.	.	.	.	.	.	G	9.554	1.116567	0.20795	.	.	ENSG00000112115	ENST00000340057	T	0.56275	0.47	5.51	2.58	0.30949	.	0.700993	0.14364	N	0.324253	T	0.25680	0.0625	M	0.65975	2.015	0.09310	N	1	B	0.23442	0.085	B	0.14578	0.011	T	0.26395	-1.0104	10	0.48119	T	0.1	-1.7893	5.1803	0.15156	0.0729:0.3286:0.417:0.1815	.	102	Q16552	IL17_HUMAN	T	102	ENSP00000344192:A102T	ENSP00000344192:A102T	A	+	1	0	IL17A	52161885	0.000000	0.05858	0.001000	0.08648	0.087000	0.18053	-0.131000	0.10482	0.221000	0.20879	0.511000	0.50034	GCT		0.582	IL17A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040892.1	NM_002190		25	28	0	0	0	1	0	25	28					A	52053926	G	A	52053926	3	1	242	1	0	0	0	0	1	0	0	0	7634	1087	38	1	314	1	IL17A	6	52053926	Missense_Mutation	SNP	G	TCGA-HC-A632-01A-11D-A29Q-08	41524332	52053926	119061141	25	11377											
GCK	2645	broad.mit.edu	37	chr7	44198715	44198715	+	Intron	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctccttgtgacatccatcGccatctctccgaggggctaa	7	10	10	14	2	1	1	0	1	1	0	6	2	4	1	4	3	0	2	4	3	1	2			TCGA-HC-A632-01A-11D-A29Q-08	TCGA-HC-A632-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62488eee-4473-454e-89d3-7102d7c34977	c00991ab-7597-4eaf-9574-ef30295beeb9	g.chr7:44198715G>A	ENST00000403799.3	-	2	515				GCK_ENST00000476008.1_Intron|GCK_ENST00000345378.2_Missense_Mutation_p.A2V|GCK_ENST00000395796.3_5'UTR|GCK_ENST00000437084.1_Intron	NM_000162.3	NP_000153.1	P35557	HXK4_HUMAN	glucokinase (hexokinase 4)						calcium ion import (GO:0070509)|carbohydrate metabolic process (GO:0005975)|cellular glucose homeostasis (GO:0001678)|cellular response to glucose starvation (GO:0042149)|cellular response to insulin stimulus (GO:0032869)|cellular response to leptin stimulus (GO:0044320)|detection of glucose (GO:0051594)|endocrine pancreas development (GO:0031018)|fructose 2,6-bisphosphate metabolic process (GO:0006003)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glucose transport (GO:0015758)|glycogen biosynthetic process (GO:0005978)|glycolytic process (GO:0006096)|hexose transport (GO:0008645)|NADP metabolic process (GO:0006739)|negative regulation of epinephrine secretion (GO:0032811)|negative regulation of gluconeogenesis (GO:0045721)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of glycolytic process (GO:0045821)|positive regulation of insulin secretion (GO:0032024)|positive regulation of phosphorylation (GO:0042327)|regulation of glucose transport (GO:0010827)|regulation of glycolytic process (GO:0006110)|regulation of insulin secretion (GO:0050796)|regulation of potassium ion transport (GO:0043266)|second-messenger-mediated signaling (GO:0019932)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|secretory granule (GO:0030141)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|glucokinase activity (GO:0004340)|glucose binding (GO:0005536)|magnesium ion binding (GO:0000287)	p.A2V(1)		central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	37						GACATCCATCGCCATCTCTCC	0.592																																						ENST00000345378.2																			1	Substitution - Missense(1)	p.A2V(1)	large_intestine(1)	central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	37						c.(4-6)gCg>gTg		glucokinase (hexokinase 4)							134	121	126					7																	44198715		2203	4300	6503	SO:0001627	intron_variant	2645				cellular response to insulin stimulus|cellular response to leptin stimulus|detection of glucose|endocrine pancreas development|glucose homeostasis|glucose transport|glycolysis|negative regulation of gluconeogenesis|positive regulation of glycogen biosynthetic process|positive regulation of insulin secretion|regulation of glucose transport|regulation of glycolysis|transmembrane transport	cytosol|nucleoplasm	ATP binding|glucokinase activity|glucose binding|protein binding	g.chr7:44198715G>A	AF041014	CCDS5479.1, CCDS5480.1, CCDS5481.1	7p15.3-p15.1	2008-02-07	2008-02-07		ENSG00000106633	ENSG00000106633	2.7.1.2, 2.7.1.1		4195	protein-coding gene	gene with protein product		138079	"maturity onset diabetes of the young 2"	MODY2		1740341, 1502186	Standard	NM_033507		Approved	HK4	uc003tkk.1	P35557	OTTHUMG00000022903	ENST00000403799.3:c.46-5653C>T	7.37:g.44198715G>A						GCK_ENST00000476008.1_Intron|GCK_ENST00000395796.3_5'UTR|GCK_ENST00000403799.3_Intron|GCK_ENST00000437084.1_Intron	p.A2V	NM_033507.1	NP_277042.1	P35557	HXK4_HUMAN			1	166	-			0					A4D2J2|A4D2J3|Q05810	Missense_Mutation	SNP	ENST00000403799.3	37	c.5C>T	CCDS5479.1	.	.	.	.	.	.	.	.	.	.	G	8.831	0.939839	0.18281	.	.	ENSG00000106633	ENST00000345378	D	0.97404	-4.37	3.05	2.17	0.27698	.	2.388090	0.02053	N	0.050199	D	0.92260	0.7545	.	.	.	0.09310	N	0.999999	B	0.21452	0.056	B	0.10450	0.005	D	0.85420	0.1142	9	0.15952	T	0.53	-5.6747	6.1893	0.20516	0.1417:0.0:0.8583:0.0	.	2	P35557-2	.	V	2	ENSP00000223366:A2V	ENSP00000223366:A2V	A	-	2	0	GCK	44165240	0.107000	0.21998	0.010000	0.14722	0.073000	0.16967	1.208000	0.32345	0.843000	0.35070	0.462000	0.41574	GCG		0.592	GCK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251069.2			5	111	0	0	0	1	0	5	111					A	44198715	G	A	44198715	1	1	242	0	1	0	0	0	0	0	0	0	6293	1087	38	1		1	GCK	7	44198715	Intron	SNP	G	TCGA-HC-A632-01A-11D-A29Q-08		44198715	114939948	26	11378											
PLEC	5339	broad.mit.edu	37	chr8	144995284	144995284	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tggccttctcaaagacgtccCgggcctcggagtcagtgtag	7	9	13	12	3	2	1	2	0	1	1	5	2	3	2	3	3	0	1	3	3	2	2			TCGA-HC-A632-01A-11D-A29Q-08	TCGA-HC-A632-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62488eee-4473-454e-89d3-7102d7c34977	c00991ab-7597-4eaf-9574-ef30295beeb9	g.chr8:144995284C>T	ENST00000322810.4	-	32	9285	c.9116G>A	c.(9115-9117)cGg>cAg	p.R3039Q	PLEC_ENST00000436759.2_Missense_Mutation_p.R2929Q|PLEC_ENST00000354958.2_Missense_Mutation_p.R2880Q|PLEC_ENST00000356346.3_Missense_Mutation_p.R2888Q|PLEC_ENST00000527096.1_Missense_Mutation_p.R2925Q|PLEC_ENST00000398774.2_Missense_Mutation_p.R2870Q|PLEC_ENST00000345136.3_Missense_Mutation_p.R2902Q|PLEC_ENST00000357649.2_Missense_Mutation_p.R2906Q|PLEC_ENST00000354589.3_Missense_Mutation_p.R2902Q	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	3039	Globular 2.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						AAAGACGTCCCGGGCCTCGGA	0.622																																						ENST00000322810.4																			0				NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						c.(9115-9117)cGg>cAg		plectin							59	66	64					8																	144995284		2203	4300	6503	SO:0001583	missense	5339				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle	g.chr8:144995284C>T	U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"plectin 1, intermediate filament binding protein, 500kD", "epidermolysis bullosa simplex 1 (Ogna)", "plectin 1, intermediate filament binding protein 500kDa"	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.9116G>A	8.37:g.144995284C>T	ENSP00000323856:p.Arg3039Gln					PLEC_ENST00000356346.3_Missense_Mutation_p.R2888Q|PLEC_ENST00000345136.3_Missense_Mutation_p.R2902Q|PLEC_ENST00000527096.1_Missense_Mutation_p.R2925Q|PLEC_ENST00000398774.2_Missense_Mutation_p.R2870Q|PLEC_ENST00000354589.3_Missense_Mutation_p.R2902Q|PLEC_ENST00000436759.2_Missense_Mutation_p.R2929Q|PLEC_ENST00000354958.2_Missense_Mutation_p.R2880Q|PLEC_ENST00000357649.2_Missense_Mutation_p.R2906Q	p.R3039Q	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN			32	9285	-			3039			Globular 2.		Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Missense_Mutation	SNP	ENST00000322810.4	37	c.9116G>A	CCDS43772.1	.	.	.	.	.	.	.	.	.	.	C	11.32	1.604130	0.28534	.	.	ENSG00000178209	ENST00000345136;ENST00000357649;ENST00000354589;ENST00000398774;ENST00000322810;ENST00000354958;ENST00000356346;ENST00000436759;ENST00000527096	T;T;T;T;T;T;T;T;T	0.79247	-1.21;-1.21;-1.25;-1.24;-1.23;-1.21;-1.21;-1.21;-1.21	4.82	4.82	0.62117	.	0.092479	0.42548	U	0.000691	T	0.63686	0.2532	L	0.48362	1.52	0.39414	D	0.966801	P;P;P;P;P;P;P;P	0.51791	0.948;0.948;0.948;0.913;0.948;0.948;0.948;0.948	B;B;B;B;B;B;B;B	0.34418	0.182;0.182;0.182;0.121;0.182;0.182;0.182;0.182	T	0.67806	-0.5575	10	0.42905	T	0.14	.	7.8077	0.29213	0.0:0.818:0.0:0.182	.	2929;2888;2880;3039;2870;2902;2906;2902	Q15149-2;Q15149-9;Q15149-8;Q15149;Q15149-7;Q15149-5;Q15149-6;Q15149-4	.;.;.;PLEC_HUMAN;.;.;.;.	Q	2902;2906;2902;2870;3039;2880;2888;2929;2925	ENSP00000344848:R2902Q;ENSP00000350277:R2906Q;ENSP00000346602:R2902Q;ENSP00000381756:R2870Q;ENSP00000323856:R3039Q;ENSP00000347044:R2880Q;ENSP00000348702:R2888Q;ENSP00000388180:R2929Q;ENSP00000434583:R2925Q	ENSP00000323856:R3039Q	R	-	2	0	PLEC	145067272	0.989000	0.36119	0.900000	0.35374	0.405000	0.30901	2.621000	0.46418	2.404000	0.81709	0.448000	0.29417	CGG		0.622	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	NM_000445		79	52	0	0	0	1	0	79	52					T	144995284	C	T	144995284	3	4	242	1	0	0	0	0	1	0	0	0	12052	652	23	2	4942	2	PLEC	8	144995284	Missense_Mutation	SNP	C	TCGA-HC-A632-01A-11D-A29Q-08		144995284	1368738	27	11379											
UBAP2	55833	broad.mit.edu	37	chr9	33923825	33923825	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gccatactggaaggcactggGcatgcctgtgtagtagggaa	10	8	15	8	0	0	0	0	0	0	0	0	2	0	2	2	4	2	4	2	4	5	3			TCGA-HC-A632-01A-11D-A29Q-08	TCGA-HC-A632-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62488eee-4473-454e-89d3-7102d7c34977	c00991ab-7597-4eaf-9574-ef30295beeb9	g.chr9:33923825G>A	ENST00000379238.1	-	24	2881	c.2764C>T	c.(2764-2766)Ccc>Tcc	p.P922S	UBAP2_ENST00000539807.1_Missense_Mutation_p.P677S|UBAP2_ENST00000379235.1_Missense_Mutation_p.P161S|UBAP2_ENST00000449054.1_Missense_Mutation_p.P922S|UBAP2_ENST00000379239.4_Missense_Mutation_p.P655S|UBAP2_ENST00000360802.1_Missense_Mutation_p.P922S					ubiquitin associated protein 2											endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(13)|ovary(3)|stomach(1)	32			LUSC - Lung squamous cell carcinoma(29;0.00575)	GBM - Glioblastoma multiforme(74;0.168)		AAGGCACTGGGCATGCCTGTG	0.572																																						ENST00000379238.1																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(13)|ovary(3)|stomach(1)	32						c.(2764-2766)Ccc>Tcc		ubiquitin associated protein 2							197	156	170					9																	33923825		2203	4300	6503	SO:0001583	missense	55833							g.chr9:33923825G>A	AB040924	CCDS6547.1, CCDS75828.1	9p11.2	2008-02-05			ENSG00000137073	ENSG00000137073			14185	protein-coding gene	gene with protein product						8871400	Standard	NM_018449		Approved	KIAA1491, bA176F3.5, FLJ22435	uc003ztq.1	Q5T6F2	OTTHUMG00000000427	ENST00000379238.1:c.2764C>T	9.37:g.33923825G>A	ENSP00000368540:p.Pro922Ser					UBAP2_ENST00000360802.1_Missense_Mutation_p.P922S|UBAP2_ENST00000379239.4_Missense_Mutation_p.P655S|UBAP2_ENST00000539807.1_Missense_Mutation_p.P677S|UBAP2_ENST00000449054.1_Missense_Mutation_p.P922S|UBAP2_ENST00000379235.1_Missense_Mutation_p.P161S	p.P922S			Q5T6F2	UBAP2_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.00575)	GBM - Glioblastoma multiforme(74;0.168)	24	2881	-			922						Missense_Mutation	SNP	ENST00000379238.1	37	c.2764C>T	CCDS6547.1	.	.	.	.	.	.	.	.	.	.	G	17.69	3.451786	0.63290	.	.	ENSG00000137073	ENST00000379238;ENST00000449054;ENST00000360802;ENST00000431417;ENST00000379235;ENST00000379239;ENST00000539807;ENST00000351580	T;T;T;T;T;T	0.33216	1.42;1.42;1.42;1.42;1.42;1.42	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	T	0.62672	0.2447	M	0.82323	2.585	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.999;0.999;0.999;0.999;0.997	T	0.65026	-0.6268	10	0.72032	D	0.01	-19.5347	20.3214	0.98679	0.0:0.0:1.0:0.0	.	847;677;655;831;922	F5H4D5;F5H2U4;A6NCA8;F5H2C8;Q5T6F2	.;.;.;.;UBAP2_HUMAN	S	922;922;922;831;161;655;677;356	ENSP00000368540:P922S;ENSP00000416932:P922S;ENSP00000354039:P922S;ENSP00000368537:P161S;ENSP00000368541:P655S;ENSP00000439329:P677S	ENSP00000259602:P356S	P	-	1	0	UBAP2	33913825	1.000000	0.71417	1.000000	0.80357	0.370000	0.29829	9.434000	0.97515	2.804000	0.96469	0.655000	0.94253	CCC		0.572	UBAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001071.1	NM_018449		34	70	0	0	0	1	0	34	70					A	33923825	G	A	33923825	3	1	242	1	0	0	0	0	1	0	0	0	16834	1203	42	3	619	3	UBAP2	9	33923825	Missense_Mutation	SNP	G	TCGA-HC-A632-01A-11D-A29Q-08		33923825	107289606	28	11380											
POLR3A	11128	broad.mit.edu	37	chr10	79742556	79742556	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tggatgtgcagatggaatatCtcactgtctcagcgttcacc	9	12	10	10	1	3	1	3	0	2	1	5	3	3	3	1	2	2	2	1	2	2	2	rs371116845		TCGA-HC-A632-01A-11D-A29Q-08	TCGA-HC-A632-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62488eee-4473-454e-89d3-7102d7c34977	c00991ab-7597-4eaf-9574-ef30295beeb9	g.chr10:79742556C>T	ENST00000372371.3	-	27	3586	c.3449G>A	c.(3448-3450)aGa>aAa	p.R1150K		NM_007055.3	NP_008986.2	O14802	RPC1_HUMAN	polymerase (RNA) III (DNA directed) polypeptide A, 155kDa	1150					defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of type I interferon production (GO:0032481)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|DNA-directed RNA polymerase III complex (GO:0005666)|membrane (GO:0016020)|nucleoplasm (GO:0005654)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|ribonucleoside binding (GO:0032549)|zinc ion binding (GO:0008270)			breast(1)|endometrium(7)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	all_cancers(46;0.0356)|all_epithelial(25;0.00102)|Breast(12;0.00124)|Prostate(51;0.0095)		Epithelial(14;0.00161)|OV - Ovarian serous cystadenocarcinoma(4;0.00323)|all cancers(16;0.00646)			GATGGAATATCTCACTGTCTC	0.507																																						ENST00000372371.3																			0				breast(1)|endometrium(7)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59						c.(3448-3450)aGa>aAa		polymerase (RNA) III (DNA directed) polypeptide A, 155kDa		C	LYS/ARG	0,4406		0,0,2203	128	102	111		3449	5	0.7	10		111	1,8599	1.2+/-3.3	0,1,4299	no	missense	POLR3A	NM_007055.3	26	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	1150/1391	79742556	1,13005	2203	4300	6503	SO:0001583	missense	11128				innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	DNA-directed RNA polymerase III complex	DNA binding|DNA-directed RNA polymerase activity|ribonucleoside binding|zinc ion binding	g.chr10:79742556C>T	AF021351	CCDS7354.1	10q22-q23	2013-01-21			ENSG00000148606	ENSG00000148606		"RNA polymerase subunits"	30074	protein-coding gene	gene with protein product		614258				9331371, 12391170	Standard	NM_007055		Approved	RPC1, RPC155, hRPC155	uc001jzn.3	O14802	OTTHUMG00000018550	ENST00000372371.3:c.3449G>A	10.37:g.79742556C>T	ENSP00000361446:p.Arg1150Lys						p.R1150K	NM_007055.3	NP_008986.2	O14802	RPC1_HUMAN	Epithelial(14;0.00161)|OV - Ovarian serous cystadenocarcinoma(4;0.00323)|all cancers(16;0.00646)		27	3586	-	all_cancers(46;0.0356)|all_epithelial(25;0.00102)|Breast(12;0.00124)|Prostate(51;0.0095)		1150					Q8IW34|Q8TCW5	Missense_Mutation	SNP	ENST00000372371.3	37	c.3449G>A	CCDS7354.1	.	.	.	.	.	.	.	.	.	.	C	4.783	0.145565	0.09134	0.0	1.16E-4	ENSG00000148606	ENST00000372371;ENST00000540842	T	0.67171	-0.25	5.92	5.01	0.66863	RNA polymerase Rpb1, domain 5 (1);	0.000000	0.85682	D	0.000000	T	0.50154	0.1599	N	0.13272	0.32	0.54753	D	0.999988	B	0.18741	0.03	B	0.17098	0.017	T	0.41610	-0.9499	9	.	.	.	-24.2459	16.698	0.85341	0.1302:0.8698:0.0:0.0	.	1150	O14802	RPC1_HUMAN	K	1150;1129	ENSP00000361446:R1150K	.	R	-	2	0	POLR3A	79412562	1.000000	0.71417	0.692000	0.30179	0.061000	0.15899	5.542000	0.67218	1.483000	0.48342	0.655000	0.94253	AGA		0.507	POLR3A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048923.1	NM_007055		5	58	0	0	0	1	0	5	58					T	79742556	C	T	79742556	3	4	242	1	0	0	0	0	1	0	0	0	12228	913	32	3	743	3	POLR3A	10	79742556	Missense_Mutation	SNP	C	TCGA-HC-A632-01A-11D-A29Q-08		79742556	55792191	29	11381											
FAM45A	404636	broad.mit.edu	37	chr10	120883051	120883051	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cttacgtgcacctcaacgccGatgagctggaagccctgcag	9	7	11	14	3	1	1	1	1	0	0	1	3	1	2	3	1	6	3	3	1	3	1			TCGA-HC-A632-01A-11D-A29Q-08	TCGA-HC-A632-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62488eee-4473-454e-89d3-7102d7c34977	c00991ab-7597-4eaf-9574-ef30295beeb9	g.chr10:120883051G>A	ENST00000361432.2	+	6	690	c.664G>A	c.(664-666)Gat>Aat	p.D222N	FAM45A_ENST00000489988.1_3'UTR|FAM45A_ENST00000544016.1_Missense_Mutation_p.D71N|FAM45A_ENST00000535029.1_Silent_p.P184P	NM_207009.2	NP_996892.1	Q8TCE6	FA45A_HUMAN	family with sequence similarity 45, member A	222										breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|ovary(2)|urinary_tract(1)	14		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.0293)		CCTCAACGCCGATGAGCTGGA	0.507																																						ENST00000361432.2																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|ovary(2)|urinary_tract(1)	14						c.(664-666)Gat>Aat		family with sequence similarity 45, member A							78	65	69					10																	120883051		2203	4300	6503	SO:0001583	missense	404636							g.chr10:120883051G>A	AF168713	CCDS7609.1	10q25	2008-09-04			ENSG00000119979	ENSG00000119979			31793	protein-coding gene	gene with protein product							Standard	NM_207009		Approved			Q8TCE6	OTTHUMG00000019143	ENST00000361432.2:c.664G>A	10.37:g.120883051G>A	ENSP00000354688:p.Asp222Asn					FAM45A_ENST00000489988.1_3'UTR|FAM45A_ENST00000544016.1_Missense_Mutation_p.D71N|FAM45A_ENST00000535029.1_Silent_p.P184P	p.D222N	NM_207009.2	NP_996892.1	Q8TCE6	FA45A_HUMAN		all cancers(201;0.0293)	6	690	+		Lung NSC(174;0.094)|all_lung(145;0.123)	222					B1AMV6|B4DDC3|D3DRC8|Q9NXW4	Missense_Mutation	SNP	ENST00000361432.2	37	c.664G>A	CCDS7609.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	10.64|10.64	1.408012|1.408012	0.25378|0.25378	.|.	.|.	ENSG00000119979|ENSG00000119979	ENST00000361432;ENST00000544016|ENST00000546291	.|.	.|.	.|.	5.41|5.41	5.41|5.41	0.78517|0.78517	.|.	0.523113|.	0.21920|.	N|.	0.067167|.	T|T	0.55986|0.55986	0.1955|0.1955	L|L	0.46157|0.46157	1.445|1.445	0.22552|0.22552	N|N	0.998998|0.998998	P;P;P;P|.	0.47545|.	0.774;0.897;0.733;0.882|.	B;B;B;B|.	0.40329|.	0.255;0.323;0.165;0.326|.	T|T	0.54118|0.54118	-0.8341|-0.8341	9|6	0.42905|0.87932	T|D	0.14|0	.|.	17.3699|17.3699	0.87373|0.87373	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	149;71;214;222|.	B4DNL9;B4DMU4;Q8TCE6-2;Q8TCE6|.	.;.;.;FA45A_HUMAN|.	N|Q	222;71|221	.|.	ENSP00000354688:D222N|ENSP00000442471:R221Q	D|R	+|+	1|2	0|0	FAM45A|FAM45A	120873041|120873041	0.991000|0.991000	0.36638|0.36638	0.055000|0.055000	0.19348|0.19348	0.067000|0.067000	0.16453|0.16453	2.620000|2.620000	0.46410|0.46410	2.547000|2.547000	0.85894|0.85894	0.543000|0.543000	0.68304|0.68304	GAT|CGA		0.507	FAM45A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050623.1	NM_207009		4	19	0	0	0	1	0	4	19					A	120883051	G	A	120883051	3	1	242	1	0	0	0	0	1	0	0	0	5564	1058	37	2	686	2	FAM45A	10	120883051	Missense_Mutation	SNP	G	TCGA-HC-A632-01A-11D-A29Q-08	41140495	120883051	14651696	30	11382											
MRPL23	6150	broad.mit.edu	37	chr11	1972238	1972238	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgaggacaccgtgcagttcCggatccccatggagtgagtc	8	7	13	13	3	0	1	0	1	0	0	3	5	2	4	5	3	1	2	5	3	0	1	rs377509219		TCGA-HC-A632-01A-11D-A29Q-08	TCGA-HC-A632-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62488eee-4473-454e-89d3-7102d7c34977	c00991ab-7597-4eaf-9574-ef30295beeb9	g.chr11:1972238C>T	ENST00000397298.3	+	2	212	c.127C>T	c.(127-129)Cgg>Tgg	p.R43W	MRPL23_ENST00000397297.3_Missense_Mutation_p.R43W|MRPL23_ENST00000381514.3_Missense_Mutation_p.R43W|MRPL23_ENST00000486931.1_3'UTR|MRPL23_ENST00000381519.1_Missense_Mutation_p.R43W|MRPL23_ENST00000397294.3_Missense_Mutation_p.R43W	NM_021134.3	NP_066957.3	Q16540	RM23_HUMAN	mitochondrial ribosomal protein L23	43					translation (GO:0006412)	mitochondrial large ribosomal subunit (GO:0005762)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			large_intestine(2)|lung(1)|ovary(1)	4		all_epithelial(84;6.24e-05)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.0026)|Lung(200;0.0171)|LUSC - Lung squamous cell carcinoma(625;0.0842)		CGTGCAGTTCCGGATCCCCAT	0.657																																						ENST00000381514.3																			0				large_intestine(2)|lung(1)|ovary(1)	4						c.(127-129)Cgg>Tgg		mitochondrial ribosomal protein L23		C	TRP/ARG	0,4396		0,0,2198	34	27	30		127	2.5	1	11		30	1,8591		0,1,4295	no	missense	MRPL23	NM_021134.3	101	0,1,6493	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	43/154	1972238	1,12987	2198	4296	6494	SO:0001583	missense	6150				translation	mitochondrial large ribosomal subunit	nucleotide binding|RNA binding|structural constituent of ribosome	g.chr11:1972238C>T	AB051340	CCDS31336.1	11p15.5	2012-09-13			ENSG00000214026	ENSG00000214026		"Mitochondrial ribosomal proteins / large subunits"	10322	protein-coding gene	gene with protein product		600789		RPL23L		8541832	Standard	NM_021134		Approved	L23MRP	uc001lux.3	Q16540	OTTHUMG00000012476	ENST00000397298.3:c.127C>T	11.37:g.1972238C>T	ENSP00000380466:p.Arg43Trp					MRPL23_ENST00000381519.1_Missense_Mutation_p.R43W|MRPL23_ENST00000397297.3_Missense_Mutation_p.R43W|MRPL23_ENST00000397298.3_Missense_Mutation_p.R43W|MRPL23_ENST00000397294.3_Missense_Mutation_p.R43W|MRPL23_ENST00000486931.1_3'UTR	p.R43W			Q16540	RM23_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.0026)|Lung(200;0.0171)|LUSC - Lung squamous cell carcinoma(625;0.0842)	2	149	+		all_epithelial(84;6.24e-05)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	43					A8MT29|Q96Q71	Missense_Mutation	SNP	ENST00000397298.3	37	c.127C>T	CCDS31336.1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.286267	0.80803	0.0	1.16E-4	ENSG00000214026	ENST00000397298;ENST00000381519;ENST00000397297;ENST00000381514;ENST00000397294	T;T;T;T;T	0.46063	0.88;0.88;0.88;0.88;0.88	4.46	2.55	0.30701	Ribosomal protein L23/L15e (1);Nucleotide-binding, alpha-beta plait (1);	0.070104	0.64402	U	0.000016	T	0.58892	0.2154	M	0.75447	2.3	0.53688	D	0.999976	D	0.89917	1.0	D	0.68621	0.959	T	0.60352	-0.7280	10	0.51188	T	0.08	.	10.195	0.43049	0.0:0.8351:0.0:0.1649	.	43	Q16540	RM23_HUMAN	W	43	ENSP00000380466:R43W;ENSP00000370930:R43W;ENSP00000380465:R43W;ENSP00000370925:R43W;ENSP00000380462:R43W	ENSP00000370925:R43W	R	+	1	2	MRPL23	1928814	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	3.466000	0.53071	1.010000	0.39314	0.491000	0.48974	CGG		0.657	MRPL23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034765.2	NM_021134		6	11	0	0	0	1	0	6	11					T	1972238	C	T	1972238	3	4	242	1	0	0	0	0	1	0	0	0	9789	643	23	2	133	2	MRPL23	11	1972238	Missense_Mutation	SNP	C	TCGA-HC-A632-01A-11D-A29Q-08		1972238	133034278	31	11383											
OR4A16	81327	broad.mit.edu	37	chr11	55111605	55111605	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gttaagtatagttagaaaaaGagtatctcccacactgaaca	17	10	7	7	0	1	3	0	1	1	2	2	3	1	3	1	0	1	4	1	0	8	5			TCGA-HC-A632-01A-11D-A29Q-08	TCGA-HC-A632-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62488eee-4473-454e-89d3-7102d7c34977	c00991ab-7597-4eaf-9574-ef30295beeb9	g.chr11:55111605G>A	ENST00000314721.2	+	1	979	c.929G>A	c.(928-930)aGa>aAa	p.R310K		NM_001005274.1	NP_001005274.1	Q8NH70	O4A16_HUMAN	olfactory receptor, family 4, subfamily A, member 16	310						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	51						GTTAGAAAAAGAGTATCTCCC	0.348																																						ENST00000314721.2																			0				NS(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	51						c.(928-930)aGa>aAa		olfactory receptor, family 4, subfamily A, member 16							31	32	32					11																	55111605		2201	4293	6494	SO:0001583	missense	81327				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55111605G>A	AB065519	CCDS31499.1	11q11	2012-08-09			ENSG00000181961	ENSG00000181961		"GPCR / Class A : Olfactory receptors"	15153	protein-coding gene	gene with protein product							Standard	NM_001005274		Approved	OR4A16Q	uc010rie.2	Q8NH70	OTTHUMG00000166710	ENST00000314721.2:c.929G>A	11.37:g.55111605G>A	ENSP00000325128:p.Arg310Lys						p.R310K	NM_001005274.1	NP_001005274.1	Q8NH70	O4A16_HUMAN			1	979	+			310					Q6IFL3	Missense_Mutation	SNP	ENST00000314721.2	37	c.929G>A	CCDS31499.1	.	.	.	.	.	.	.	.	.	.	g	8.185	0.794773	0.16327	.	.	ENSG00000181961	ENST00000314721	T	0.38077	1.16	3.02	-0.365	0.12549	.	.	.	.	.	T	0.14874	0.0359	N	0.08118	0	0.09310	N	1	B	0.14012	0.009	B	0.15484	0.013	T	0.27536	-1.0071	9	0.21014	T	0.42	.	3.838	0.08902	0.2306:0.4546:0.3147:0.0	.	310	Q8NH70	O4A16_HUMAN	K	310	ENSP00000325128:R310K	ENSP00000325128:R310K	R	+	2	0	OR4A16	54868181	0.000000	0.05858	0.015000	0.15790	0.034000	0.12701	-0.048000	0.11944	0.074000	0.16767	0.423000	0.28283	AGA		0.348	OR4A16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391160.1	NM_001005274		7	36	0	0	0	1	0	7	36					A	55111605	G	A	55111605	3	1	242	1	0	0	0	0	1	0	0	0	11041	942	33	3	931	3	OR4A16	11	55111605	Missense_Mutation	SNP	G	TCGA-HC-A632-01A-11D-A29Q-08	53139367	55111605	79894911	32	11384											
SIPA1	6494	broad.mit.edu	37	chr11	65414869	65414869	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgcagctggtgagccgtggCtgcgagacccgcgagctggc	5	5	17	14	5	0	2	0	1	0	1	0	4	0	2	3	3	4	4	3	3	0	0			TCGA-HC-A632-01A-11D-A29Q-08	TCGA-HC-A632-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62488eee-4473-454e-89d3-7102d7c34977	c00991ab-7597-4eaf-9574-ef30295beeb9	g.chr11:65414869C>T	ENST00000394224.3	+	9	2342	c.2046C>T	c.(2044-2046)ggC>ggT	p.G682G	SIPA1_ENST00000527525.1_Silent_p.G580G|SIPA1_ENST00000394227.3_Silent_p.G580G|MIR4489_ENST00000578869.1_RNA|SIPA1_ENST00000534313.1_Silent_p.G682G	NM_153253.29	NP_694985.29	Q96FS4	SIPA1_HUMAN	signal-induced proliferation-associated 1	682					cell proliferation (GO:0008283)|cellular response to water deprivation (GO:0042631)|cytoskeleton organization (GO:0007010)|intracellular signal transduction (GO:0035556)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell growth (GO:0030308)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Rap GTPase activity (GO:0032854)|signal transduction (GO:0007165)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|protein complex (GO:0043234)|transport vesicle (GO:0030133)	GTPase activator activity (GO:0005096)|Rap GTPase activator activity (GO:0046582)			cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	10						TGAGCCGTGGCTGCGAGACCC	0.756																																						ENST00000394224.3																			0				cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	10						c.(2044-2046)ggC>ggT		signal-induced proliferation-associated 1							4	3	3					11																	65414869		1633	3035	4668	SO:0001819	synonymous_variant	6494				cell proliferation|cytoskeleton organization|intracellular signal transduction|negative regulation of cell adhesion|negative regulation of cell cycle|negative regulation of cell growth	cytosol|endomembrane system|membrane|perinuclear region of cytoplasm	Rap GTPase activator activity	g.chr11:65414869C>T	AH006363, BC010492, BM677738	CCDS8108.1	11q13.3	2008-09-12	2008-09-12		ENSG00000213445	ENSG00000213445			10885	protein-coding gene	gene with protein product		602180				9027487	Standard	NM_006747		Approved	SPA1	uc001ofb.2	Q96FS4	OTTHUMG00000166541	ENST00000394224.3:c.2046C>T	11.37:g.65414869C>T						SIPA1_ENST00000527525.1_Silent_p.G580G|SIPA1_ENST00000394227.3_Silent_p.G580G|SIPA1_ENST00000534313.1_Silent_p.G682G	p.G682G	NM_153253.29	NP_694985.29	Q96FS4	SIPA1_HUMAN			9	2342	+			682					O14518|O60484|O60618|Q2YD83	Silent	SNP	ENST00000394224.3	37	c.2046C>T	CCDS8108.1																																																																																				0.756	SIPA1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390356.1	NM_006747		3	0	0	0	0	1	0	3	0					T	65414869	C	T	65414869	2	4	242	1	0	0	0	0	0	0	0	1	14328	784	28	3		3	SIPA1	11	65414869	Silent	SNP	C	TCGA-HC-A632-01A-11D-A29Q-08	10303264	65414869	69591647	33	11385											
B3GAT1	27087	broad.mit.edu	37	chr11	134253732	134253732	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgggtcgcgggcgtctccgcGcagcttgtagttgcggggcg	2	9	19	11	7	1	0	0	0	1	0	3	0	1	0	1	4	2	4	1	4	1	3			TCGA-HC-A632-01A-11D-A29Q-08	TCGA-HC-A632-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62488eee-4473-454e-89d3-7102d7c34977	c00991ab-7597-4eaf-9574-ef30295beeb9	g.chr11:134253732G>A	ENST00000524765.1	-	3	5007	c.463C>T	c.(463-465)Cgc>Tgc	p.R155C	B3GAT1_ENST00000312527.4_Missense_Mutation_p.R155C|B3GAT1_ENST00000537389.1_Missense_Mutation_p.R168C|B3GAT1_ENST00000392580.1_Missense_Mutation_p.R155C|B3GAT1_ENST00000531510.1_5'Flank			Q9P2W7	B3GA1_HUMAN	beta-1,3-glucuronyltransferase 1	155					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|protein glycosylation (GO:0006486)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity (GO:0015018)|metal ion binding (GO:0046872)|UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity (GO:0008499)			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_hematologic(175;0.127)	all_cancers(12;1.39e-23)|all_epithelial(12;7.17e-17)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000162)|Medulloblastoma(222;0.0125)|all_neural(223;0.0137)|Esophageal squamous(93;0.0559)		Epithelial(10;2.58e-11)|all cancers(11;5.75e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.000879)|Lung(977;0.0864)		GCGTCTCCGCGCAGCTTGTAG	0.736																																						ENST00000524765.1																			0				breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	19						c.(463-465)Cgc>Tgc		beta-1,3-glucuronyltransferase 1 (glucuronosyltransferase P)							27	26	26					11																	134253732		2176	4235	6411	SO:0001583	missense	27087				carbohydrate metabolic process	Golgi membrane|integral to membrane	galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity|metal ion binding	g.chr11:134253732G>A	AB029396	CCDS8500.1	11q25	2014-07-08	2014-07-08		ENSG00000109956	ENSG00000109956	2.4.1.135	"CD molecules", "Beta-1,3-glucuronyltransferases"	921	protein-coding gene	gene with protein product	"galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase 1", "glucuronosyltransferase P"	151290	"CD57 antigen"	CD57, LEU7			Standard	XM_005271506		Approved	GlcAT-P, HNK-1, NK-1	uc001qhq.3	Q9P2W7	OTTHUMG00000167180	ENST00000524765.1:c.463C>T	11.37:g.134253732G>A	ENSP00000433847:p.Arg155Cys					B3GAT1_ENST00000312527.4_Missense_Mutation_p.R155C|B3GAT1_ENST00000392580.1_Missense_Mutation_p.R155C|B3GAT1_ENST00000537389.1_Missense_Mutation_p.R168C	p.R155C			Q9P2W7	B3GA1_HUMAN		Epithelial(10;2.58e-11)|all cancers(11;5.75e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.000879)|Lung(977;0.0864)	3	5007	-	all_hematologic(175;0.127)	all_cancers(12;1.39e-23)|all_epithelial(12;7.17e-17)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000162)|Medulloblastoma(222;0.0125)|all_neural(223;0.0137)|Esophageal squamous(93;0.0559)	155					Q96FS7	Missense_Mutation	SNP	ENST00000524765.1	37	c.463C>T	CCDS8500.1	.	.	.	.	.	.	.	.	.	.	G	34	5.410077	0.96072	.	.	ENSG00000109956	ENST00000392580;ENST00000312527;ENST00000524765;ENST00000537389	T;T;T;T	0.45276	0.9;0.9;0.9;0.9	5.39	5.39	0.77823	.	0.108809	0.64402	D	0.000005	T	0.51736	0.1692	L	0.50333	1.59	0.80722	D	1	D;D	0.71674	0.998;0.997	P;P	0.57009	0.729;0.811	T	0.52147	-0.8614	10	0.59425	D	0.04	-19.8928	12.7916	0.57537	0.0:0.0:0.7136:0.2864	.	168;155	F5H0S0;Q9P2W7	.;B3GA1_HUMAN	C	155;155;155;168	ENSP00000376359:R155C;ENSP00000307875:R155C;ENSP00000433847:R155C;ENSP00000445983:R168C	ENSP00000307875:R155C	R	-	1	0	B3GAT1	133758942	1.000000	0.71417	0.993000	0.49108	0.945000	0.59286	3.265000	0.51561	2.541000	0.85698	0.561000	0.74099	CGC		0.736	B3GAT1-002	KNOWN	alternative_3_UTR|alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393639.1	NM_018644		4	17	0	0	0	1	0	4	17					A	134253732	G	A	134253732	3	1	242	1	0	0	0	0	1	0	0	0	1253	1087	38	1	553	1	B3GAT1	11	134253732	Missense_Mutation	SNP	G	TCGA-HC-A632-01A-11D-A29Q-08	68838863	134253732	752784	34	11386											
LTBR	4055	broad.mit.edu	37	chr12	6494476	6494476	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgggaatgttctgtgctgccTgggccctcgagtgtacacac	6	10	13	12	2	1	0	0	0	1	0	2	2	1	1	2	2	3	3	2	2	2	2			TCGA-HC-A632-01A-11D-A29Q-08	TCGA-HC-A632-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62488eee-4473-454e-89d3-7102d7c34977	c00991ab-7597-4eaf-9574-ef30295beeb9	g.chr12:6494476T>G	ENST00000228918.4	+	4	729	c.403T>G	c.(403-405)Tgg>Ggg	p.W135G	LTBR_ENST00000543190.1_Missense_Mutation_p.W28G|LTBR_ENST00000539925.1_Missense_Mutation_p.W116G|LTBR_ENST00000541102.1_Missense_Mutation_p.W28G	NM_002342.2	NP_002333.1	P36941	TNR3_HUMAN	lymphotoxin beta receptor (TNFR superfamily, member 3)	135					apoptotic process (GO:0006915)|cellular response to mechanical stimulus (GO:0071260)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of JNK cascade (GO:0046330)|signal transduction (GO:0007165)|viral process (GO:0016032)	integral component of membrane (GO:0016021)	identical protein binding (GO:0042802)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|cervix(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)	15						CTGTGCTGCCTGGGCCCTCGA	0.622																																						ENST00000228918.4																			0				breast(1)|cervix(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)	15						c.(403-405)Tgg>Ggg		lymphotoxin beta receptor (TNFR superfamily, member 3)							53	56	55					12																	6494476		2203	4300	6503	SO:0001583	missense	4055				apoptosis|cellular response to mechanical stimulus|interspecies interaction between organisms|positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to membrane	protein binding|receptor activity	g.chr12:6494476T>G	L04270	CCDS8544.1, CCDS59233.1	12p13	2013-05-22				ENSG00000111321		"Tumor necrosis factor receptor superfamily"	6718	protein-coding gene	gene with protein product		600979		D12S370		8171323, 8486360	Standard	NM_002342		Approved	TNFCR, TNFR-RP, TNFR2-RP, TNF-R-III, TNFRSF3	uc001qny.2	P36941		ENST00000228918.4:c.403T>G	12.37:g.6494476T>G	ENSP00000228918:p.Trp135Gly					LTBR_ENST00000541102.1_Missense_Mutation_p.W28G|LTBR_ENST00000543190.1_Missense_Mutation_p.W28G|LTBR_ENST00000539925.1_Missense_Mutation_p.W116G	p.W135G	NM_002342.1	NP_002333.1	P36941	TNR3_HUMAN			4	729	+			135					B7Z1D2|D3DUR2|F5GXE7	Missense_Mutation	SNP	ENST00000228918.4	37	c.403T>G	CCDS8544.1	.	.	.	.	.	.	.	.	.	.	T	0.012	-1.663508	0.00772	.	.	ENSG00000111321	ENST00000539925;ENST00000228918;ENST00000540343;ENST00000536876;ENST00000543190;ENST00000541102	T;T;T;T;T	0.71461	1.08;1.08;1.08;-0.57;-0.57	4.26	-8.52	0.00920	TNFR/CD27/30/40/95 cysteine-rich region (1);	1.278260	0.05851	N	0.621226	T	0.46092	0.1375	L	0.28054	0.825	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.06405	0.002;0.001;0.001	T	0.22103	-1.0226	9	.	.	.	0.0011	1.9926	0.03449	0.1987:0.4097:0.2006:0.1909	.	116;116;135	F5GXE7;B7Z1D2;P36941	.;.;TNR3_HUMAN	G	116;135;28;130;28;28	ENSP00000440875:W116G;ENSP00000228918:W135G;ENSP00000437647:W130G;ENSP00000438955:W28G;ENSP00000438605:W28G	.	W	+	1	0	LTBR	6364737	0.000000	0.05858	0.000000	0.03702	0.013000	0.08279	-5.926000	0.00090	-1.952000	0.01027	-1.840000	0.00586	TGG		0.622	LTBR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399422.1			29	65	0	0	0	1	0	29	65					G	6494476	T	G	6494476	3	3	242	1	0	0	0	0	1	0	0	0	9077	1580	55	5	417	5	LTBR	12	6494476	Missense_Mutation	SNP	T	TCGA-HC-A632-01A-11D-A29Q-08		6494476	127357419	35	11387											
USP15	9958	broad.mit.edu	37	chr12	62777656	62777656	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttgcacctcagttctctggAtatcagcagcaagactgtca	10	12	8	11	0	4	1	3	0	1	1	5	2	4	2	1	1	3	4	1	1	2	3			TCGA-HC-A632-01A-11D-A29Q-08	TCGA-HC-A632-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62488eee-4473-454e-89d3-7102d7c34977	c00991ab-7597-4eaf-9574-ef30295beeb9	g.chr12:62777656A>G	ENST00000280377.5	+	10	1183	c.1125A>G	c.(1123-1125)ggA>ggG	p.G375G	USP15_ENST00000393654.3_Silent_p.G350G|USP15_ENST00000353364.3_Silent_p.G346G	NM_001252078.1	NP_001239007.1	Q9Y4E8	UBP15_HUMAN	ubiquitin specific peptidase 15	375	USP.				BMP signaling pathway (GO:0030509)|monoubiquitinated protein deubiquitination (GO:0035520)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|protein deubiquitination (GO:0016579)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|identical protein binding (GO:0042802)|SMAD binding (GO:0046332)|transforming growth factor beta receptor binding (GO:0005160)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(15)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	37			GBM - Glioblastoma multiforme(1;0.000276)	GBM - Glioblastoma multiforme(28;0.0622)		AGTTCTCTGGATATCAGCAGC	0.348																																					Melanoma(181;615 2041 39364 49691 50001)	ENST00000280377.5																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(15)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	37						c.(1123-1125)ggA>ggG		ubiquitin specific peptidase 15							109	104	105					12																	62777656		2203	4299	6502	SO:0001819	synonymous_variant	9958				protein deubiquitination|ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr12:62777656A>G	AB011101	CCDS8963.1, CCDS58250.1, CCDS58251.1	12q14	2006-07-18	2005-08-08					"Ubiquitin-specific peptidases"	12613	protein-coding gene	gene with protein product		604731	"ubiquitin specific protease 15"			12838346	Standard	NM_001252078		Approved	KIAA0529, UNPH4	uc001src.2	Q9Y4E8	OTTHUMG00000170186	ENST00000280377.5:c.1125A>G	12.37:g.62777656A>G						USP15_ENST00000353364.3_Silent_p.G346G|USP15_ENST00000393654.3_Silent_p.G350G	p.G375G	NM_001252078.1	NP_001239007.1	Q9Y4E8	UBP15_HUMAN	GBM - Glioblastoma multiforme(1;0.000276)	GBM - Glioblastoma multiforme(28;0.0622)	10	1183	+			375					Q08AL5|Q9H8G9|Q9HCA6|Q9UNP0|Q9Y5B5	Silent	SNP	ENST00000280377.5	37	c.1125A>G	CCDS58251.1																																																																																				0.348	USP15-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000407831.2	NM_006313		24	42	0	0	0	1	0	24	42					G	62777656	A	G	62777656	2	3	242	1	0	0	0	0	0	0	0	1	17043	320	12	4		4	USP15	12	62777656	Silent	SNP	A	TCGA-HC-A632-01A-11D-A29Q-08	56283180	62777656	71074239	36	11388											
CCDC64	92558	broad.mit.edu	37	chr12	120427782	120427784	+	In_Frame_Del	DEL	CCG	CCG	-																															cggggacgcagtccggagtcCcgccgccgccgccgccctca																										TCGA-HC-A632-01A-11D-A29Q-08	TCGA-HC-A632-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62488eee-4473-454e-89d3-7102d7c34977	c00991ab-7597-4eaf-9574-ef30295beeb9	g.chr12:120427782_120427784delCCG	ENST00000397558.2	+	1	110_112	c.110_112delCCG	c.(109-114)cccgcc>ccc	p.A42del		NM_207311.2	NP_997194.2	Q6ZP65	BICR1_HUMAN	coiled-coil domain containing 64	42					Golgi to secretory granule transport (GO:0055107)|neuron projection development (GO:0031175)	centrosome (GO:0005813)|cytoplasm (GO:0005737)	dynactin binding (GO:0034452)|Rab GTPase binding (GO:0017137)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(2)|lung(4)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	22	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GTCCGGAGTCCCGCCGCCGCCGC	0.759																																						ENST00000397558.2																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(2)|lung(4)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	22						c.(109-114)ccc>c		coiled-coil domain containing 64				5,1289		2,1,644						-1.2	0			2	22,3806		6,10,1898	no	coding	CCDC64	NM_207311.2		8,11,2542	A1A1,A1R,RR		0.5747,0.3864,0.5271				27,5095				SO:0001651	inframe_deletion	92558				Golgi to secretory granule transport|neuron projection development	centrosome	dynactin binding|Rab GTPase binding	g.chr12:120427782_120427784delCCG	U88834, AK129960	CCDS41845.1	12q24.23	2006-01-24				ENSG00000135127			28095	protein-coding gene	gene with protein product							Standard	NM_207311		Approved	FLJ26450	uc001txl.1	Q6ZP65	OTTHUMG00000169311	ENST00000397558.2:c.110_112delCCG	12.37:g.120427791_120427793delCCG	ENSP00000380690:p.Ala42del						p.PA37del	NM_207311.2	NP_997194.2	Q6ZP65	BICR1_HUMAN			1	110_112	+	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		37					A8MUC8|B4DWL0|B5MDJ0|O95000	In_Frame_Del	DEL	ENST00000397558.2	37	c.110_112delCCG	CCDS41845.1																																																																																				0.759	CCDC64-001	NOVEL	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000403390.2	NM_207311		3	4						3	4	---	---	---	---	-	120427784	CCG	-	120427782	7	5	242	1	0	1	0	1	0	0	0	0	2835	623	22	0	112	0	CCDC64	12	120427782	In_Frame_Del	DEL	CCG	TCGA-HC-A632-01A-11D-A29Q-08	57650126	120427782	13424113	37	11389											
F10	2159	broad.mit.edu	37	chr13	113795319	113795319	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtggtgtgctcctgcgccCgcgggtacaccctggctgac	3	9	14	15	3	0	1	0	1	0	0	1	1	1	1	3	3	3	3	3	3	1	1	rs138587138		TCGA-HC-A632-01A-11D-A29Q-08	TCGA-HC-A632-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62488eee-4473-454e-89d3-7102d7c34977	c00991ab-7597-4eaf-9574-ef30295beeb9	g.chr13:113795319C>T	ENST00000375559.3	+	5	495	c.457C>T	c.(457-459)Cgc>Tgc	p.R153C	F10_ENST00000409306.1_Missense_Mutation_p.R153C|F10_ENST00000375551.3_Missense_Mutation_p.R153C	NM_000504.3	NP_000495.1	P00742	FA10_HUMAN	coagulation factor X	153	EGF-like 2. {ECO:0000255|PROSITE- ProRule:PRU00076}.				blood coagulation (GO:0007596)|blood coagulation, extrinsic pathway (GO:0007598)|blood coagulation, intrinsic pathway (GO:0007597)|cellular protein metabolic process (GO:0044267)|peptidyl-glutamic acid carboxylation (GO:0017187)|positive regulation of cell migration (GO:0030335)|positive regulation of protein kinase B signaling (GO:0051897)|post-translational protein modification (GO:0043687)|proteolysis (GO:0006508)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|intrinsic component of external side of plasma membrane (GO:0031233)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|phospholipid binding (GO:0005543)|serine-type endopeptidase activity (GO:0004252)			endometrium(2)|large_intestine(4)|lung(10)|pancreas(1)|stomach(1)	18	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.113)|all_lung(25;0.0364)|all_epithelial(44;0.0373)|Lung NSC(25;0.128)|Breast(118;0.188)	all cancers(43;0.0805)|Epithelial(84;0.231)		Antihemophilic Factor(DB00025)|Apixaban(DB06605)|Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Enoxaparin(DB01225)|Fondaparinux sodium(DB00569)|Heparin(DB01109)|Menadione(DB00170)|Rivaroxaban(DB06228)	CTCCTGCGCCCGCGGGTACAC	0.657																																						ENST00000375559.3																			0				endometrium(2)|large_intestine(4)|lung(10)|pancreas(1)|stomach(1)	18						c.(457-459)Cgc>Tgc		coagulation factor X	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Enoxaparin(DB01225)|Heparin(DB01109)|Menadione(DB00170)|Reteplase(DB00015)|Tenecteplase(DB00031)	C	CYS/ARG	2,4404	4.2+/-10.8	0,2,2201	93	79	84		457	-5.8	0	13	dbSNP_134	84	0,8600		0,0,4300	no	missense	F10	NM_000504.3	180	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	possibly-damaging	153/489	113795319	2,13004	2203	4300	6503	SO:0001583	missense	2159				blood coagulation, extrinsic pathway|blood coagulation, intrinsic pathway|peptidyl-glutamic acid carboxylation|positive regulation of cell migration|positive regulation of protein kinase B signaling cascade|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|extracellular region|Golgi lumen	calcium ion binding|phospholipid binding|protein binding|serine-type endopeptidase activity	g.chr13:113795319C>T		CCDS9530.1	13q34	2012-10-02			ENSG00000126218	ENSG00000126218	3.4.21.6		3528	protein-coding gene	gene with protein product		613872					Standard	XM_005268298		Approved		uc001vsx.3	P00742	OTTHUMG00000017374	ENST00000375559.3:c.457C>T	13.37:g.113795319C>T	ENSP00000364709:p.Arg153Cys					F10_ENST00000375551.3_Missense_Mutation_p.R153C|F10_ENST00000409306.1_Missense_Mutation_p.R153C	p.R153C	NM_000504.3	NP_000495.1	P00742	FA10_HUMAN	all cancers(43;0.0805)|Epithelial(84;0.231)		5	495	+	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.113)|all_lung(25;0.0364)|all_epithelial(44;0.0373)|Lung NSC(25;0.128)|Breast(118;0.188)	153			EGF-like 2.		Q14340	Missense_Mutation	SNP	ENST00000375559.3	37	c.457C>T	CCDS9530.1	.	.	.	.	.	.	.	.	.	.	C	8.088	0.773803	0.16051	4.54E-4	0.0	ENSG00000126218	ENST00000409306;ENST00000375551;ENST00000375559	D;D;D	0.96459	-4.02;-4.02;-4.02	4.68	-5.85	0.02311	Epidermal growth factor-like (1);EGF-like region, conserved site (1);	1.869560	0.02477	N	0.088109	D	0.93569	0.7947	L	0.60904	1.88	0.09310	N	1	D;D;P	0.60160	0.965;0.987;0.927	B;B;B	0.43783	0.353;0.431;0.103	D	0.87970	0.2736	10	0.66056	D	0.02	.	3.8529	0.08963	0.1801:0.454:0.2562:0.1097	.	153;153;153	B7ZBK1;Q5JVE8;P00742	.;.;FA10_HUMAN	C	153	ENSP00000387092:R153C;ENSP00000364701:R153C;ENSP00000364709:R153C	ENSP00000364701:R153C	R	+	1	0	F10	112843320	0.000000	0.05858	0.006000	0.13384	0.032000	0.12392	-1.359000	0.02602	-0.713000	0.04981	-1.393000	0.01150	CGC		0.657	F10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045841.3			31	66	0	0	0	1	0	31	66					T	113795319	C	T	113795319	3	4	242	1	0	0	0	0	1	0	0	0	5336	652	23	2	475	2	F10	13	113795319	Missense_Mutation	SNP	C	TCGA-HC-A632-01A-11D-A29Q-08		113795319	1374559	38	11390											
ZNF828	283489	broad.mit.edu	37	chr13	115090966	115090966	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agaagcacgcaaacgtgcccTttttccagagccccggaagc	11	6	10	14	3	0	2	0	0	0	2	1	3	1	3	4	1	5	2	4	1	3	2			TCGA-HC-A632-01A-11D-A29Q-08	TCGA-HC-A632-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62488eee-4473-454e-89d3-7102d7c34977	c00991ab-7597-4eaf-9574-ef30295beeb9	g.chr13:115090966T>C	ENST00000361283.1	+	3	1958	c.1649T>C	c.(1648-1650)cTt>cCt	p.L550P		NM_001164144.1|NM_001164145.1|NM_032436.2	NP_001157616.1|NP_001157617.1|NP_115812.1	Q96JM3	CHAP1_HUMAN	chromosome alignment maintaining phosphoprotein 1	550	Mediates localization to the spindle and the kinetochore and is required for the attachment of spindle microtubules to the kinetochore.|Pro-rich.				attachment of spindle microtubules to kinetochore involved in mitotic sister chromatid segregation (GO:0051315)|protein localization to kinetochore (GO:0034501)|protein localization to microtubule (GO:0035372)|sister chromatid biorientation (GO:0031134)	condensed chromosome (GO:0000793)|condensed chromosome kinetochore (GO:0000777)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|spindle (GO:0005819)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)										AAACGTGCCCTTTTTCCAGAG	0.517																																						ENST00000361283.1																			0											c.(1648-1650)cTt>cCt		chromosome alignment maintaining phosphoprotein 1							211	240	230					13																	115090966		2203	4300	6503	SO:0001583	missense	283489				attachment of spindle microtubules to kinetochore involved in mitotic sister chromatid segregation|protein localization to kinetochore|protein localization to microtubule|sister chromatid biorientation	condensed chromosome kinetochore|cytoplasm|nucleus|spindle	nucleic acid binding|protein binding|zinc ion binding	g.chr13:115090966T>C	AK074894	CCDS9545.1	13q34	2013-01-07	2011-10-07	2011-10-07	ENSG00000198824	ENSG00000198824		"Zinc fingers, C2H2-type"	20311	protein-coding gene	gene with protein product	"chromosome alignment-maintaining phosphoprotein"		"chromosome 13 open reading frame 8", "zinc finger protein 828"	C13orf8, ZNF828		21063390	Standard	NM_032436		Approved	CAMP, CHAMP	uc010ahb.3	Q96JM3	OTTHUMG00000017404	ENST00000361283.1:c.1649T>C	13.37:g.115090966T>C	ENSP00000354730:p.Leu550Pro						p.L550P	NM_001164144.1|NM_001164145.1|NM_032436.2	NP_001157616.1|NP_001157617.1|NP_115812.1	Q96JM3	ZN828_HUMAN			3	1958	+			550			Mediates localization to the spindle and the kinetochore and is required for the attachment of spindle microtubules to the kinetochore.|Pro-rich.		B3KU06|Q6P181|Q8NC88|Q9BST0	Missense_Mutation	SNP	ENST00000361283.1	37	c.1649T>C	CCDS9545.1	.	.	.	.	.	.	.	.	.	.	T	16.08	3.020892	0.54576	.	.	ENSG00000198824	ENST00000361283	T	0.01902	4.57	5.59	5.59	0.84812	.	0.000000	0.51477	D	0.000081	T	0.07188	0.0182	M	0.65498	2.005	0.58432	D	0.999996	P	0.51537	0.946	P	0.51777	0.679	T	0.19257	-1.0311	9	.	.	.	-17.4144	14.3423	0.66636	0.0:0.0:0.0:1.0	.	550	Q96JM3	ZN828_HUMAN	P	550	ENSP00000354730:L550P	.	L	+	2	0	ZNF828	114109068	0.995000	0.38212	0.981000	0.43875	0.990000	0.78478	3.159000	0.50731	2.126000	0.65437	0.528000	0.53228	CTT		0.517	CHAMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045977.2	NM_032436		5	485	0	0	0	1	0	5	485					C	115090966	T	C	115090966	3	2	242	1	0	0	0	0	1	0	0	0	18178	1609	56	4	1651	4	ZNF828	13	115090966	Missense_Mutation	SNP	T	TCGA-HC-A632-01A-11D-A29Q-08	1295647	115090966	78912	39	11391											
NUMB	8650	broad.mit.edu	37	chr14	73750946	73750946	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	agctgttcaattggagcatgCcggcgtgggatggcatgagg	8	9	17	7	2	1	1	1	1	0	0	1	3	1	3	1	5	3	4	1	5	1	2			TCGA-HC-A632-01A-11D-A29Q-08	TCGA-HC-A632-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62488eee-4473-454e-89d3-7102d7c34977	c00991ab-7597-4eaf-9574-ef30295beeb9	g.chr14:73750946C>T	ENST00000355058.3	-	10	1070	c.792G>A	c.(790-792)cgG>cgA	p.R264R	NUMB_ENST00000555738.2_Intron|NUMB_ENST00000555394.1_Silent_p.R264R|NUMB_ENST00000554546.1_Silent_p.R253R|NUMB_ENST00000560335.1_Intron|NUMB_ENST00000356296.4_Silent_p.R264R|NUMB_ENST00000554521.2_Intron|NUMB_ENST00000544991.3_Intron|NUMB_ENST00000557597.1_Silent_p.R253R|NUMB_ENST00000454166.4_Intron|NUMB_ENST00000359560.3_Silent_p.R253R|NUMB_ENST00000555238.1_Silent_p.R264R|NUMB_ENST00000559312.1_Intron|NUMB_ENST00000535282.1_Silent_p.R253R|NUMB_ENST00000556772.1_Silent_p.R120R			P49757	NUMB_HUMAN	numb homolog (Drosophila)	264					adherens junction organization (GO:0034332)|axon guidance (GO:0007411)|lateral ventricle development (GO:0021670)|lung epithelial cell differentiation (GO:0060487)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of protein localization to plasma membrane (GO:1903077)|neuroblast division in subventricular zone (GO:0021849)|Notch signaling pathway (GO:0007219)|positive regulation of cell migration (GO:0030335)|positive regulation of neurogenesis (GO:0050769)|positive regulation of polarized epithelial cell differentiation (GO:0030862)	apical part of cell (GO:0045177)|basolateral plasma membrane (GO:0016323)|clathrin-coated vesicle (GO:0030136)|early endosome (GO:0005769)|extrinsic component of plasma membrane (GO:0019897)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1)	28				BRCA - Breast invasive adenocarcinoma(234;0.00471)|OV - Ovarian serous cystadenocarcinoma(108;0.161)		TTGGAGCATGCCGGCGTGGGA	0.552																																						ENST00000556772.1																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1)	28						c.(358-360)cgG>cgA		numb homolog (Drosophila)							164	149	154					14																	73750946		2203	4300	6503	SO:0001819	synonymous_variant	8650				axon guidance|lateral ventricle development|neuroblast division in subventricular zone|positive regulation of neurogenesis	integral to plasma membrane		g.chr14:73750946C>T	L40393	CCDS9814.1, CCDS32115.1, CCDS32116.1, CCDS55927.1	14q24.3	2011-11-25	2001-11-28			ENSG00000133961			8060	protein-coding gene	gene with protein product		603728	"numb (Drosophila) homolog", "chromosome 14 open reading frame 41"	C14orf41			Standard	NM_003744		Approved		uc001xny.1	P49757		ENST00000355058.3:c.792G>A	14.37:g.73750946C>T						NUMB_ENST00000554521.2_Intron|NUMB_ENST00000559312.1_Intron|NUMB_ENST00000557597.1_Silent_p.R253R|NUMB_ENST00000544991.3_Intron|NUMB_ENST00000535282.1_Silent_p.R253R|NUMB_ENST00000554546.1_Silent_p.R253R|NUMB_ENST00000454166.4_Intron|NUMB_ENST00000555394.1_Silent_p.R264R|NUMB_ENST00000555238.1_Silent_p.R264R|NUMB_ENST00000560335.1_Intron|NUMB_ENST00000555738.2_Intron|NUMB_ENST00000359560.3_Silent_p.R253R|NUMB_ENST00000356296.4_Silent_p.R264R|NUMB_ENST00000355058.3_Silent_p.R264R	p.R120R			P49757	NUMB_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00471)|OV - Ovarian serous cystadenocarcinoma(108;0.161)	4	2647	-			264			PID.		B1P2N5|B1P2N6|B1P2N7|B1P2N8|B1P2N9|B4E2B1|Q6NUQ7|Q86SY1|Q8WW73|Q9UBG1|Q9UEQ4|Q9UKE8|Q9UKE9|Q9UKF0|Q9UQJ4	Silent	SNP	ENST00000355058.3	37	c.360G>A	CCDS32116.1																																																																																				0.552	NUMB-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000414416.1			4	167	0	0	0	1	0	4	167					T	73750946	C	T	73750946	2	4	242	1	0	0	0	0	0	0	0	1	10751	726	26	3		3	NUMB	14	73750946	Silent	SNP	C	TCGA-HC-A632-01A-11D-A29Q-08		73750946	33598594	40	11392											
NR2E3	10002	broad.mit.edu	37	chr15	72105883	72105883	+	RNA	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctggccagcatggagacgcGtgtcctgcaggaaactatct	9	8	13	11	2	1	1	0	0	1	1	2	3	2	2	2	3	3	3	2	3	2	1	rs375364175		TCGA-HC-A632-01A-11D-A29Q-08	TCGA-HC-A632-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62488eee-4473-454e-89d3-7102d7c34977	c00991ab-7597-4eaf-9574-ef30295beeb9	g.chr15:72105883G>T	ENST00000398840.2	+	0	1092							Q9Y5X4	NR2E3_HUMAN	nuclear receptor subfamily 2, group E, member 3						eye photoreceptor cell development (GO:0042462)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|phototransduction (GO:0007602)|positive regulation of rhodopsin gene expression (GO:0045872)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|retina development in camera-type eye (GO:0060041)|signal transduction (GO:0007165)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|visual perception (GO:0007601)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|sequence-specific DNA binding (GO:0043565)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|lung(1)	3						ATGGAGACGCGTGTCCTGCAG	0.647																																						ENST00000398840.2																			0				breast(1)|endometrium(1)|lung(1)	3								nuclear receptor subfamily 2, group E, member 3							49	53	51					15																	72105883		1990	4161	6151			10002				phototransduction|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription from RNA polymerase II promoter|visual perception	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding	g.chr15:72105883G>T		CCDS73750.1, CCDS73751.1	15q23	2013-01-16			ENSG00000031544	ENSG00000278570		"Nuclear hormone receptors"	7974	protein-coding gene	gene with protein product		604485				10220376	Standard	NM_016346		Approved	PNR, rd7, RP37	uc002ath.1	Q9Y5X4	OTTHUMG00000172841		15.37:g.72105883G>T										Q9Y5X4	NR2E3_HUMAN			0	1092	+								B6ZGU0|Q9UHM4	RNA	SNP	ENST00000398840.2	37			.	.	.	.	.	.	.	.	.	.	G	11.34	1.610350	0.28712	.	.	ENSG00000031544	ENST00000326995;ENST00000398840	.	.	.	5.36	3.01	0.34805	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	0.082780	0.47455	U	0.000239	T	0.75384	0.3842	M	0.90252	3.1	0.58432	D	0.999997	P	0.41041	0.736	P	0.50049	0.629	D	0.85001	0.0900	8	0.87932	D	0	.	11.5782	0.50877	0.1733:0.0:0.8267:0.0	.	301	Q9Y5X4	NR2E3_HUMAN	L	213;301	.	ENSP00000317199:R213L	R	+	2	0	NR2E3	69892937	1.000000	0.71417	0.023000	0.16930	0.649000	0.38597	5.609000	0.67661	1.162000	0.42619	0.561000	0.74099	CGT		0.647	NR2E3-202	KNOWN	basic	processed_transcript	processed_transcript		NM_014249		3	37	1	0	0.115264	1	0.119043	3	37					T	72105883	G	T	72105883	1	4	242	0	1	0	0	0	0	0	0	0	10626	1145	40	5		5	NR2E3	15	72105883	RNA	SNP	G	TCGA-HC-A632-01A-11D-A29Q-08		72105883	30425509	41	11393											
TP53	7157	broad.mit.edu	37	chr17	7577548	7577548	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgggcctccggttcatgcCgcccatgcaggaactgttac	7	9	12	13	2	1	0	1	0	0	0	2	2	2	1	4	3	4	3	4	3	2	2	rs28934575|rs397516437		TCGA-HC-A632-01A-11D-A29Q-08	TCGA-HC-A632-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62488eee-4473-454e-89d3-7102d7c34977	c00991ab-7597-4eaf-9574-ef30295beeb9	g.chr17:7577548C>T	ENST00000269305.4	-	7	922	c.733G>A	c.(733-735)Ggc>Agc	p.G245S	TP53_ENST00000445888.2_Missense_Mutation_p.G245S|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000413465.2_Missense_Mutation_p.G245S|TP53_ENST00000420246.2_Missense_Mutation_p.G245S|TP53_ENST00000359597.4_Missense_Mutation_p.G245S|TP53_ENST00000455263.2_Missense_Mutation_p.G245S	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	245	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Interacts with the 53BP2 SH3 domain.|Required for interaction with ZNF385A.		G -> A (in sporadic cancers; somatic mutation).|G -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:1978757}.|G -> D (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:2259385}.|G -> E (in a sporadic cancer; somatic mutation).|G -> F (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> H (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|G -> L (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> N (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> R (in sporadic cancers; somatic mutation).|G -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934575). {ECO:0000269|PubMed:8829627}.|G -> V (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:2263646}.		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.G245S(304)|p.G245C(59)|p.G245R(10)|p.G152S(8)|p.0?(8)|p.?(5)|p.G152C(4)|p.G244_M246>V(3)|p.G245N(2)|p.G245fs*2(2)|p.G245H(1)|p.G245L(1)|p.G244fs*17(1)|p.G245F(1)|p.C242_M246>L(1)|p.C238_M246delCNSSCMGGM(1)|p.G245fs*22(1)|p.S241_G245delSCMGG(1)|p.C242fs*98(1)|p.M243fs*18(1)|p.G151_M153>V(1)|p.G245del(1)|p.G245fs*14(1)|p.G245fs*17(1)|p.G245fs*16(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	CGGTTCATGCCGCCCATGCAG	0.577	G245S(LS1034_LARGE_INTESTINE)|G245S(NUGC2_STOMACH)|G245S(PANC0403_PANCREAS)|G245S(SKLMS1_SOFT_TISSUE)|G245S(SKMEL2_SKIN)	111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2	G245S(LS1034_LARGE_INTESTINE)|G245S(NUGC2_STOMACH)|G245S(PANC0403_PANCREAS)|G245S(SKLMS1_SOFT_TISSUE)|G245S(SKMEL2_SKIN)	111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"Mis, N, F"	tumor protein p53			"L, E, M, O"		"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"	"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"		420	Substitution - Missense(390)|Deletion - Frameshift(8)|Whole gene deletion(8)|Complex - deletion inframe(5)|Unknown(5)|Deletion - In frame(3)|Insertion - Frameshift(1)	p.G245S(304)|p.G245C(59)|p.G245R(10)|p.G152S(8)|p.0?(8)|p.?(5)|p.G152C(4)|p.G244_M246>V(3)|p.G245N(2)|p.G245fs*2(2)|p.G245H(1)|p.G245L(1)|p.G244fs*17(1)|p.G245F(1)|p.C242_M246>L(1)|p.C238_M246delCNSSCMGGM(1)|p.G245fs*22(1)|p.S241_G245delSCMGG(1)|p.C242fs*98(1)|p.M243fs*18(1)|p.G151_M153>V(1)|p.G245del(1)|p.G245fs*14(1)|p.G245fs*17(1)|p.G245fs*16(1)	large_intestine(119)|lung(51)|breast(38)|ovary(29)|central_nervous_system(27)|upper_aerodigestive_tract(25)|stomach(25)|haematopoietic_and_lymphoid_tissue(23)|oesophagus(22)|urinary_tract(14)|skin(9)|liver(7)|prostate(7)|biliary_tract(5)|bone(5)|pancreas(4)|soft_tissue(3)|vulva(2)|endometrium(2)|kidney(1)|cervix(1)|salivary_gland(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185	GRCh37	CM010463|CM900210|CM920674	TP53	M	rs28934575	c.(733-735)Ggc>Agc	Other conserved DNA damage response genes	tumor protein p53		C	SER/GLY,SER/GLY,SER/GLY,SER/GLY,SER/GLY,SER/GLY,SER/GLY	0,4406		0,0,2203	149	112	125	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	733,733,733,733,337,337,337	4.6	1	17	dbSNP_125	125	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense,missense,missense,missense	TP53	NM_000546.4,NM_001126112.1,NM_001126113.1,NM_001126114.1,NM_001126115.1,NM_001126116.1,NM_001126117.1	56,56,56,56,56,56,56	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	245/394,245/394,245/347,245/342,113/262,113/210,113/215	7577548	1,13005	2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577548C>T	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"Li-Fraumeni syndrome"	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.733G>A	17.37:g.7577548C>T	ENSP00000269305:p.Gly245Ser	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_ENST00000269305.4_Missense_Mutation_p.G245S|TP53_ENST00000359597.4_Missense_Mutation_p.G245S|TP53_ENST00000413465.2_Missense_Mutation_p.G245S|TP53_ENST00000445888.2_Missense_Mutation_p.G245S|TP53_ENST00000455263.2_Missense_Mutation_p.G245S	p.G245S	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	7	865	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	245		G -> A (in sporadic cancers; somatic mutation).|G -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|G -> D (in LFS; germline mutation and in sporadic cancers; somatic mutation).|G -> E (in a sporadic cancer; somatic mutation).|G -> F (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> H (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|G -> L (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> N (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> R (in sporadic cancers; somatic mutation).|G -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934575).|G -> V (in LFS; germline mutation and in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.733G>A	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	33	5.259904	0.95368	0.0	1.16E-4	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99894	-7.58;-7.58;-7.58;-7.58;-7.58;-7.58;-7.58;-7.58	4.62	4.62	0.57501	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99878	0.9942	M	0.84585	2.705	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;0.999;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	0.999;0.976;0.992;0.999;0.999;1.0	D	0.96039	0.9023	10	0.87932	D	0	-19.4293	15.3618	0.74483	0.0:1.0:0.0:0.0	rs28934575	245;245;152;245;245;245	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	S	245;245;245;245;245;245;234;152;113;152	ENSP00000410739:G245S;ENSP00000352610:G245S;ENSP00000269305:G245S;ENSP00000398846:G245S;ENSP00000391127:G245S;ENSP00000391478:G245S;ENSP00000425104:G113S;ENSP00000423862:G152S	ENSP00000269305:G245S	G	-	1	0	TP53	7518273	1.000000	0.71417	0.965000	0.40720	0.974000	0.67602	7.609000	0.82925	2.564000	0.86499	0.462000	0.41574	GGC		0.577	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		27	32	0	0	0	1	0	27	32					T	7577548	C	T	7577548	3	4	242	1	0	0	0	0	1	0	0	0	16378	652	23	2	557	2	TP53	17	7577548	Missense_Mutation	SNP	C	TCGA-HC-A632-01A-11D-A29Q-08		7577548	73617662	42	11394											
COIL	8161	broad.mit.edu	37	chr17	55038183	55038183	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcgcgctctcggcggggggCaagagccccccctccaggta	5	4	15	17	5	1	1	0	0	1	1	3	1	2	1	4	5	1	3	4	5	2	1	rs201582973		TCGA-HC-A632-01A-11D-A29Q-08	TCGA-HC-A632-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62488eee-4473-454e-89d3-7102d7c34977	c00991ab-7597-4eaf-9574-ef30295beeb9	g.chr17:55038183C>G	ENST00000240316.4	-	1	232	c.198G>C	c.(196-198)ttG>ttC	p.L66F		NM_004645.2	NP_004636.1	P38432	COIL_HUMAN	coilin	66						Cajal body (GO:0015030)|cytoplasm (GO:0005737)|female germ cell nucleus (GO:0001674)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	disulfide oxidoreductase activity (GO:0015036)|identical protein binding (GO:0042802)|protein C-terminus binding (GO:0008022)			NS(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|urinary_tract(1)	15	Breast(9;6.15e-08)					CGGCGGGGGGCAAGAGCCCCC	0.697																																						ENST00000240316.4																			0				NS(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|urinary_tract(1)	15						c.(196-198)ttG>ttC		coilin																																				SO:0001583	missense	8161					Cajal body|nucleolus	protein C-terminus binding	g.chr17:55038183C>G	U06632	CCDS11592.1	17q22	2012-10-02			ENSG00000121058	ENSG00000121058			2184	protein-coding gene	gene with protein product		600272				7971277	Standard	NM_004645		Approved	CLN80, p80-coilin	uc002iuu.3	P38432	OTTHUMG00000178126	ENST00000240316.4:c.198G>C	17.37:g.55038183C>G	ENSP00000240316:p.Leu66Phe						p.L66F	NM_004645.2	NP_004636.1	P38432	COIL_HUMAN			1	232	-	Breast(9;6.15e-08)		66					B2R931	Missense_Mutation	SNP	ENST00000240316.4	37	c.198G>C	CCDS11592.1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.280674	0.80692	.	.	ENSG00000121058	ENST00000240316	T	0.53640	0.61	4.32	2.16	0.27623	.	0.000000	0.64402	D	0.000001	T	0.63367	0.2505	M	0.74647	2.275	0.53688	D	0.999979	D	0.89917	1.0	D	0.87578	0.998	T	0.65434	-0.6169	10	0.87932	D	0	-7.22	8.381	0.32472	0.0:0.7562:0.1558:0.088	.	66	P38432	COIL_HUMAN	F	66	ENSP00000240316:L66F	ENSP00000240316:L66F	L	-	3	2	COIL	52393182	1.000000	0.71417	0.994000	0.49952	0.960000	0.62799	1.914000	0.39966	1.178000	0.42870	0.455000	0.32223	TTG		0.697	COIL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440618.1			7	10	0	0	0	1	0	7	10					G	55038183	C	G	55038183	3	3	242	1	0	0	0	0	1	0	0	0	3665	709	25	5	1560	5	COIL	17	55038183	Missense_Mutation	SNP	C	TCGA-HC-A632-01A-11D-A29Q-08	47460635	55038183	26157027	43	11395											
TBCD	6904	broad.mit.edu	37	chr17	80847559	80847559	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcaggccgccttccaggagAatgtggggagacaggtatgg	9	6	17	9	2	0	2	0	0	0	2	1	4	1	2	3	6	0	2	3	6	2	2			TCGA-HC-A632-01A-11D-A29Q-08	TCGA-HC-A632-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62488eee-4473-454e-89d3-7102d7c34977	c00991ab-7597-4eaf-9574-ef30295beeb9	g.chr17:80847559A>G	ENST00000355528.4	+	16	1679	c.1549A>G	c.(1549-1551)Aat>Gat	p.N517D	TBCD_ENST00000539345.2_Missense_Mutation_p.N517D|TBCD_ENST00000397466.2_Missense_Mutation_p.N131D	NM_005993.4	NP_005984.3	Q9BTW9	TBCD_HUMAN	tubulin folding cofactor D	517					'de novo' posttranslational protein folding (GO:0051084)|adherens junction assembly (GO:0034333)|cellular protein metabolic process (GO:0044267)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of microtubule polymerization (GO:0031115)|positive regulation of GTPase activity (GO:0043547)|post-chaperonin tubulin folding pathway (GO:0007023)|protein folding (GO:0006457)|tight junction assembly (GO:0070830)	adherens junction (GO:0005912)|cytoplasm (GO:0005737)|lateral plasma membrane (GO:0016328)|microtubule (GO:0005874)|tight junction (GO:0005923)	beta-tubulin binding (GO:0048487)|chaperone binding (GO:0051087)|GTPase activator activity (GO:0005096)					Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0266)|all_epithelial(8;0.0696)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.18)			CTTCCAGGAGAATGTGGGGAG	0.502																																						ENST00000355528.4																			0											c.(1549-1551)Aat>Gat		tubulin folding cofactor D							103	102	103					17																	80847559		1974	4159	6133	SO:0001583	missense	6904				'de novo' posttranslational protein folding|adherens junction assembly|negative regulation of cell-substrate adhesion|negative regulation of microtubule polymerization|post-chaperonin tubulin folding pathway|tight junction assembly	adherens junction|cytoplasm|lateral plasma membrane|microtubule|tight junction	beta-tubulin binding|chaperone binding|GTPase activator activity	g.chr17:80847559A>G	BC003094	CCDS45818.1	17q25.3	2006-11-21	2006-11-21			ENSG00000141556			11581	protein-coding gene	gene with protein product		604649	"tubulin-specific chaperone d"				Standard	NM_005993		Approved		uc002kfz.3	Q9BTW9		ENST00000355528.4:c.1549A>G	17.37:g.80847559A>G	ENSP00000347719:p.Asn517Asp					TBCD_ENST00000539345.2_Missense_Mutation_p.N517D|TBCD_ENST00000397466.2_Missense_Mutation_p.N131D	p.N517D	NM_005993.4	NP_005984.3	Q9BTW9	TBCD_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.18)		16	1679	+	Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0266)|all_epithelial(8;0.0696)	517					O95458|Q7L8K1|Q8IXP6|Q8NAX0|Q8WYH4|Q96E74|Q9UF82|Q9UG46|Q9Y2J3	Missense_Mutation	SNP	ENST00000355528.4	37	c.1549A>G	CCDS45818.1	.	.	.	.	.	.	.	.	.	.	a	21.9	4.210295	0.79240	.	.	ENSG00000141556	ENST00000355528;ENST00000334614;ENST00000397466;ENST00000536182	T;T	0.67865	-0.29;-0.29	4.7	4.7	0.59300	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.84570	0.5501	M	0.91300	3.195	0.45318	D	0.998312	D;D;P	0.89917	1.0;1.0;0.877	D;D;P	0.91635	0.998;0.999;0.66	D	0.88066	0.2797	9	.	.	.	.	13.637	0.62227	1.0:0.0:0.0:0.0	.	517;517;517	Q9BTW9;Q9BTW9-4;F5H8C7	TBCD_HUMAN;.;.	D	517;268;131;517	ENSP00000347719:N517D;ENSP00000380608:N131D	.	N	+	1	0	TBCD	78440848	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.545000	0.73883	1.884000	0.54569	0.392000	0.25879	AAT		0.502	TBCD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439415.1	NM_005993		6	34	0	0	0	1	0	6	34					G	80847559	A	G	80847559	3	3	242	1	0	0	0	0	1	0	0	0	15630	246	9	4	1611	4	TBCD	17	80847559	Missense_Mutation	SNP	A	TCGA-HC-A632-01A-11D-A29Q-08	25809376	80847559	347651	44	11396											
CCDC11	220136	broad.mit.edu	37	chr18	47753887	47753887	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacctgcttcaaactctcggCgtttctcttccttctctgct	4	16	5	16	2	4	0	1	0	3	0	8	0	5	0	2	1	3	3	2	1	1	4	rs147186159		TCGA-HC-A632-01A-11D-A29Q-08	TCGA-HC-A632-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62488eee-4473-454e-89d3-7102d7c34977	c00991ab-7597-4eaf-9574-ef30295beeb9	g.chr18:47753887C>T	ENST00000398545.4	-	8	1526	c.1409G>A	c.(1408-1410)cGc>cAc	p.R470H		NM_145020.3	NP_659457.2														endometrium(1)|kidney(4)|large_intestine(6)|lung(6)|ovary(1)|pancreas(1)|skin(1)	20				STAD - Stomach adenocarcinoma(97;2.66e-05)|Colorectal(21;7.57e-05)|Lung(128;0.00932)|READ - Rectum adenocarcinoma(32;0.164)		AAACTCTCGGCGTTTCTCTTC	0.502																																						ENST00000398545.4																			0				endometrium(1)|kidney(4)|large_intestine(6)|lung(6)|ovary(1)|pancreas(1)|skin(1)	20						c.(1408-1410)cGc>cAc		coiled-coil domain containing 11							241	239	240					18																	47753887		2009	4174	6183	SO:0001583	missense	220136							g.chr18:47753887C>T																												ENST00000398545.4:c.1409G>A	18.37:g.47753887C>T	ENSP00000381553:p.Arg470His						p.R470H	NM_145020.3	NP_659457.2	Q96M91	CCD11_HUMAN		STAD - Stomach adenocarcinoma(97;2.66e-05)|Colorectal(21;7.57e-05)|Lung(128;0.00932)|READ - Rectum adenocarcinoma(32;0.164)	8	1526	-			470						Missense_Mutation	SNP	ENST00000398545.4	37	c.1409G>A	CCDS11940.2	.	.	.	.	.	.	.	.	.	.	C	16.41	3.116355	0.56505	.	.	ENSG00000172361	ENST00000398545	T	0.10477	2.87	5.38	5.38	0.77491	.	0.129638	0.51477	D	0.000092	T	0.24967	0.0606	L	0.50333	1.59	0.36085	D	0.843068	D	0.89917	1.0	D	0.91635	0.999	T	0.07083	-1.0791	10	0.15066	T	0.55	-5.2134	14.9816	0.71316	0.0:1.0:0.0:0.0	.	470	Q96M91	CCD11_HUMAN	H	470	ENSP00000381553:R470H	ENSP00000381553:R470H	R	-	2	0	CCDC11	46007885	0.846000	0.29590	0.960000	0.40013	0.968000	0.65278	0.563000	0.23547	2.688000	0.91661	0.650000	0.86243	CGC		0.502	CCDC11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255922.3			28	157	0	0	0	1	0	28	157					T	47753887	C	T	47753887	3	4	242	1	0	0	0	0	1	0	0	0	2746	768	27	1	139	1	CCDC11	18	47753887	Missense_Mutation	SNP	C	TCGA-HC-A632-01A-11D-A29Q-08		47753887	30323361	45	11397											
OPRL1	4987	broad.mit.edu	37	chr20	62730104	62730104	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgcgcagcattgccaaggaCgtggccctggcctgcaagac	8	6	14	13	2	0	1	0	0	0	1	0	2	0	2	3	3	4	3	3	3	2	1	rs367711919		TCGA-HC-A632-01A-11D-A29Q-08	TCGA-HC-A632-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62488eee-4473-454e-89d3-7102d7c34977	c00991ab-7597-4eaf-9574-ef30295beeb9	g.chr20:62730104C>T	ENST00000349451.3	+	6	1477	c.1065C>T	c.(1063-1065)gaC>gaT	p.D355D	OPRL1_ENST00000355631.4_Silent_p.D355D|OPRL1_ENST00000336866.2_Silent_p.D355D	NM_001200019.1	NP_001186948.1	P41146	OPRX_HUMAN	opiate receptor-like 1	355					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|behavior (GO:0007610)|opioid receptor signaling pathway (GO:0038003)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|sensory perception (GO:0007600)|sensory perception of pain (GO:0019233)	cytoplasmic vesicle (GO:0031410)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|nociceptin receptor activity (GO:0001626)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(2)|urinary_tract(1)	19	all_cancers(38;4.74e-11)|all_epithelial(29;1.33e-12)|Lung NSC(23;3.27e-09)|all_lung(23;1.02e-08)					TTGCCAAGGACGTGGCCCTGG	0.647																																						ENST00000349451.3																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(2)|urinary_tract(1)	19						c.(1063-1065)gaC>gaT		opiate receptor-like 1			,,	0,4402		0,0,2201	62	55	58		1065,1065,1065	-1	0.5	20		58	1,8597	1.2+/-3.3	0,1,4298	no	coding-synonymous,coding-synonymous,coding-synonymous	OPRL1	NM_000913.4,NM_001200019.1,NM_182647.2	,,	0,1,6499	TT,TC,CC		0.0116,0.0,0.0077	,,	355/371,355/371,355/371	62730104	1,12999	2201	4299	6500	SO:0001819	synonymous_variant	4987				elevation of cytosolic calcium ion concentration|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception	integral to plasma membrane	protein binding|X-opioid receptor activity	g.chr20:62730104C>T		CCDS13556.1	20q13.33	2012-08-08			ENSG00000125510	ENSG00000125510		"GPCR / Class A : Opioid receptors"	8155	protein-coding gene	gene with protein product	"LC132 receptor-like", "orphanin FQ receptor", "kappa3-related opioid receptor"	602548				8137918	Standard	NM_000913		Approved	NOCIR, ORL1, OOR, KOR-3	uc021wgs.1	P41146	OTTHUMG00000033027	ENST00000349451.3:c.1065C>T	20.37:g.62730104C>T						OPRL1_ENST00000355631.4_Silent_p.D355D|OPRL1_ENST00000336866.2_Silent_p.D355D	p.D355D	NM_001200019.1	NP_001186948.1	P41146	OPRX_HUMAN			6	1477	+	all_cancers(38;4.74e-11)|all_epithelial(29;1.33e-12)|Lung NSC(23;3.27e-09)|all_lung(23;1.02e-08)		355					Q8TD34|Q8WYH9|Q9H4K4	Silent	SNP	ENST00000349451.3	37	c.1065C>T	CCDS13556.1																																																																																				0.647	OPRL1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080295.1	NM_182647		27	52	0	0	0	1	0	27	52					T	62730104	C	T	62730104	2	4	242	1	0	0	0	0	0	0	0	1	10886	535	19	1		1	OPRL1	20	62730104	Silent	SNP	C	TCGA-HC-A632-01A-11D-A29Q-08		62730104	295416	46	11398											
DNAJC28	54943	broad.mit.edu	37	chr21	34861298	34861298	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accttcaaaacttaaataatGtcggtgttggggtgttttat	11	16	9	5	1	1	0	1	0	0	0	2	0	1	0	1	3	1	2	1	3	6	6			TCGA-HC-A632-01A-11D-A29Q-08	TCGA-HC-A632-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62488eee-4473-454e-89d3-7102d7c34977	c00991ab-7597-4eaf-9574-ef30295beeb9	g.chr21:34861298G>A	ENST00000314399.3	-	2	841	c.403C>T	c.(403-405)Cat>Tat	p.H135Y	DNAJC28_ENST00000381947.3_Missense_Mutation_p.H135Y|DNAJC28_ENST00000402202.1_Missense_Mutation_p.H135Y	NM_017833.3	NP_060303.2	Q9NX36	DJC28_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 28	135										endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(5)|skin(1)|urinary_tract(1)	18						CTTAAATAATGTCGGTGTTGG	0.403																																						ENST00000314399.3																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(5)|skin(1)|urinary_tract(1)	18						c.(403-405)Cat>Tat		DnaJ (Hsp40) homolog, subfamily C, member 28							109	96	101					21																	34861298		2203	4300	6503	SO:0001583	missense	54943						heat shock protein binding	g.chr21:34861298G>A	AK000468	CCDS13626.1	21q22.11	2011-09-02	2008-06-17	2008-06-17	ENSG00000177692	ENSG00000177692		"Heat shock proteins / DNAJ (HSP40)"	1297	protein-coding gene	gene with protein product	"Orf28"		"chromosome 21 open reading frame 55"	C21orf55			Standard	NM_017833		Approved	C21orf78	uc002yrw.3	Q9NX36	OTTHUMG00000065531	ENST00000314399.3:c.403C>T	21.37:g.34861298G>A	ENSP00000320303:p.His135Tyr					DNAJC28_ENST00000402202.1_Missense_Mutation_p.H135Y|DNAJC28_ENST00000381947.3_Missense_Mutation_p.H135Y	p.H135Y	NM_017833.3	NP_060303.2	Q9NX36	DJC28_HUMAN			2	841	-			135					D3DSF2	Missense_Mutation	SNP	ENST00000314399.3	37	c.403C>T	CCDS13626.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.976890	0.74360	.	.	ENSG00000177692	ENST00000381947;ENST00000314399;ENST00000402202	T;T;T	0.54866	0.55;0.55;0.55	5.38	5.38	0.77491	.	0.048758	0.85682	D	0.000000	T	0.73583	0.3605	M	0.83692	2.655	0.47183	D	0.999344	D	0.89917	1.0	D	0.66716	0.946	T	0.73078	-0.4096	10	0.33141	T	0.24	-13.9707	17.9044	0.88914	0.0:0.0:1.0:0.0	.	135	Q9NX36	DJC28_HUMAN	Y	135	ENSP00000371373:H135Y;ENSP00000320303:H135Y;ENSP00000385777:H135Y	ENSP00000320303:H135Y	H	-	1	0	DNAJC28	33783168	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.181000	0.94874	2.530000	0.85305	0.655000	0.94253	CAT		0.403	DNAJC28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000140454.3			16	48	0	0	0	1	0	16	48					A	34861298	G	A	34861298	3	1	242	1	0	0	0	0	1	0	0	0	4646	1377	48	3	767	3	DNAJC28	21	34861298	Missense_Mutation	SNP	G	TCGA-HC-A632-01A-11D-A29Q-08		34861298	13268597	47	11399											
MYO18B	84700	broad.mit.edu	37	chr22	26294373	26294373	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgaccttgaggatacctgcGtcctgctagagaaccaacaa	12	8	10	11	1	0	3	0	2	0	1	1	5	1	4	4	1	5	1	4	1	5	3	rs372589915		TCGA-HC-A632-01A-11D-A29Q-08	TCGA-HC-A632-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62488eee-4473-454e-89d3-7102d7c34977	c00991ab-7597-4eaf-9574-ef30295beeb9	g.chr22:26294373G>A	ENST00000407587.2	+	29	4940	c.4771G>A	c.(4771-4773)Gtc>Atc	p.V1591I	CTA-125H2.2_ENST00000609809.1_RNA|MYO18B_ENST00000536101.1_Missense_Mutation_p.V1590I|CTA-125H2.2_ENST00000453457.3_RNA|CTA-125H2.2_ENST00000609823.1_RNA|CTA-125H2.2_ENST00000608921.1_RNA|CTA-125H2.2_ENST00000595102.1_RNA|CTA-125H2.2_ENST00000609889.1_RNA|CTA-125H2.2_ENST00000608115.1_RNA|CTA-125H2.2_ENST00000600903.1_RNA|CTA-125H2.2_ENST00000607895.1_RNA|CTA-125H2.2_ENST00000593715.1_RNA|CTA-125H2.2_ENST00000609157.1_RNA|CTA-125H2.2_ENST00000608257.1_RNA|CTA-125H2.2_ENST00000594585.1_RNA|CTA-125H2.2_ENST00000609275.1_RNA|CTA-125H2.2_ENST00000597284.1_RNA|CTA-125H2.2_ENST00000599080.1_RNA|CTA-125H2.2_ENST00000595093.1_RNA|CTA-125H2.2_ENST00000599792.1_RNA|CTA-125H2.2_ENST00000600211.1_RNA|CTA-125H2.2_ENST00000609820.1_RNA|CTA-125H2.2_ENST00000597548.1_RNA|CTA-125H2.2_ENST00000597614.2_RNA|CTA-125H2.2_ENST00000596813.1_RNA|CTA-125H2.2_ENST00000609570.1_RNA|CTA-125H2.2_ENST00000600269.1_RNA|MYO18B_ENST00000335473.7_Missense_Mutation_p.V1590I|CTA-125H2.2_ENST00000594856.1_RNA|CTA-125H2.2_ENST00000594542.1_RNA|CTA-125H2.2_ENST00000608507.1_RNA			Q8IUG5	MY18B_HUMAN	myosin XVIIIB	1590	Tail.					cytoplasm (GO:0005737)|nucleus (GO:0005634)|unconventional myosin complex (GO:0016461)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						GGATACCTGCGTCCTGCTAGA	0.527																																						ENST00000335473.7																			0				NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						c.(4768-4770)Gtc>Atc		myosin XVIIIB		G	ILE/VAL	0,4150		0,0,2075	131	133	132		4768	-1.3	0	22		132	1,8387		0,1,4193	no	missense	MYO18B	NM_032608.5	29	0,1,6268	AA,AG,GG		0.0119,0.0,0.0080	benign	1590/2568	26294373	1,12537	2075	4194	6269	SO:0001583	missense	84700					nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity	g.chr22:26294373G>A	AJ310931	CCDS54507.1	22q12.1	2011-09-27			ENSG00000133454	ENSG00000133454		"Myosins / Myosin superfamily : Class XVIII"	18150	protein-coding gene	gene with protein product		607295				12209013, 12547197	Standard	NM_032608		Approved	BK125H2.1	uc003abz.1	Q8IUG5	OTTHUMG00000151129	ENST00000407587.2:c.4771G>A	22.37:g.26294373G>A	ENSP00000386096:p.Val1591Ile					CTA-125H2.2_ENST00000600903.1_RNA|CTA-125H2.2_ENST00000597284.1_RNA|CTA-125H2.2_ENST00000599080.1_RNA|CTA-125H2.2_ENST00000595102.1_RNA|MYO18B_ENST00000407587.2_Missense_Mutation_p.V1591I|CTA-125H2.2_ENST00000594585.1_RNA|CTA-125H2.2_ENST00000594856.1_RNA|CTA-125H2.2_ENST00000600211.1_RNA|CTA-125H2.2_ENST00000453457.2_RNA|CTA-125H2.2_ENST00000599792.1_RNA|CTA-125H2.2_ENST00000597548.1_RNA|CTA-125H2.2_ENST00000594542.1_RNA|MYO18B_ENST00000536101.1_Missense_Mutation_p.V1590I|CTA-125H2.2_ENST00000600269.1_RNA	p.V1590I	NM_032608.5	NP_115997.5	Q8IUG5	MY18B_HUMAN			29	5018	+			1590			Tail.		B2RWP3|F5GYU7|Q8NDI8|Q8TE65|Q8WWS0|Q96KH2|Q96KR8|Q96KR9	Missense_Mutation	SNP	ENST00000407587.2	37	c.4768G>A		.	.	.	.	.	.	.	.	.	.	G	11.31	1.600744	0.28534	0.0	1.19E-4	ENSG00000133454	ENST00000536101;ENST00000335473;ENST00000407587	D;D;T	0.86694	-2.16;-2.16;-1.13	5.9	-1.31	0.09230	.	0.476618	0.19321	N	0.117153	T	0.74099	0.3672	L	0.50333	1.59	0.09310	N	0.999999	P;P;B;P	0.40180	0.573;0.581;0.275;0.705	B;B;B;B	0.26693	0.045;0.033;0.021;0.072	T	0.66333	-0.5950	10	0.59425	D	0.04	.	3.2027	0.06655	0.1444:0.2353:0.4748:0.1455	.	1103;1590;1591;1590	Q8IUG5-2;Q8IUG5;F5GXR6;F5GYU7	.;MY18B_HUMAN;.;.	I	1590;1590;1591	ENSP00000441229:V1590I;ENSP00000334563:V1590I;ENSP00000386096:V1591I	ENSP00000334563:V1590I	V	+	1	0	MYO18B	24624373	0.987000	0.35691	0.036000	0.18154	0.435000	0.31806	1.942000	0.40243	-0.119000	0.11830	-0.136000	0.14681	GTC		0.527	MYO18B-006	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000400691.1	NM_032608		53	99	0	0	0	1	0	53	99					A	26294373	G	A	26294373	3	1	242	1	0	0	0	0	1	0	0	0	10066	1145	40	1	4878	1	MYO18B	22	26294373	Missense_Mutation	SNP	G	TCGA-HC-A632-01A-11D-A29Q-08		26294373	25010193	48	11400											
GGA1	26088	broad.mit.edu	37	chr22	38028487	38028487	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccatcgtccacccctcagcaAtcacccaggtcctgctgctt	7	9	6	19	1	2	0	2	0	0	0	5	0	4	0	6	1	3	3	6	1	1	1			TCGA-HC-A632-01A-11D-A29Q-08	TCGA-HC-A632-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62488eee-4473-454e-89d3-7102d7c34977	c00991ab-7597-4eaf-9574-ef30295beeb9	g.chr22:38028487A>G	ENST00000343632.4	+	16	2160	c.1774A>G	c.(1774-1776)Atc>Gtc	p.I592V	GGA1_ENST00000337437.4_Missense_Mutation_p.I559V|GGA1_ENST00000406772.1_Missense_Mutation_p.I519V|GGA1_ENST00000381756.5_Missense_Mutation_p.I609V|GGA1_ENST00000325180.8_Missense_Mutation_p.I505V	NM_001172687.1|NM_013365.4	NP_001166158.1|NP_037497.1	Q9UJY5	GGA1_HUMAN	golgi-associated, gamma adaptin ear containing, ARF binding protein 1	592	GAE. {ECO:0000255|PROSITE- ProRule:PRU00093}.				intracellular protein transport (GO:0006886)|positive regulation of protein catabolic process (GO:0045732)|vesicle-mediated transport (GO:0016192)	clathrin adaptor complex (GO:0030131)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|urinary_tract(1)	10	Melanoma(58;0.0574)					CCCCTCAGCAATCACCCAGGT	0.637																																						ENST00000406772.1																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|urinary_tract(1)	10						c.(1555-1557)Atc>Gtc		golgi-associated, gamma adaptin ear containing, ARF binding protein 1							125	113	117					22																	38028487		2203	4300	6503	SO:0001583	missense	26088				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|endosome membrane|Golgi apparatus part	protein binding	g.chr22:38028487A>G	AF190862	CCDS13951.1, CCDS33643.1, CCDS54526.1	22q13.31	2010-02-12	2010-02-12		ENSG00000100083	ENSG00000100083			17842	protein-coding gene	gene with protein product		606004				10747088, 10747089, 16407204	Standard	NM_013365		Approved		uc003atc.3	Q9UJY5	OTTHUMG00000030985	ENST00000343632.4:c.1774A>G	22.37:g.38028487A>G	ENSP00000341344:p.Ile592Val					GGA1_ENST00000381756.5_Missense_Mutation_p.I609V|GGA1_ENST00000325180.8_Missense_Mutation_p.I505V|GGA1_ENST00000337437.4_Missense_Mutation_p.I559V|GGA1_ENST00000343632.4_Missense_Mutation_p.I592V	p.I519V	NM_001172688.1	NP_001166159.1	Q9UJY5	GGA1_HUMAN			17	2207	+	Melanoma(58;0.0574)		592			GAE.		A8K3D3|B0QYR7|Q5TG07|Q86YA9|Q8NCS6|Q9BW94|Q9UG00|Q9UGW0|Q9UGW1	Missense_Mutation	SNP	ENST00000343632.4	37	c.1555A>G	CCDS13951.1	.	.	.	.	.	.	.	.	.	.	A	7.518	0.656092	0.14580	.	.	ENSG00000100083	ENST00000343632;ENST00000381756;ENST00000325180;ENST00000337437;ENST00000406772	T;T;T;T;T	0.45276	0.9;0.9;0.9;0.9;0.9	5.3	4.24	0.50183	Coatomer/clathrin adaptor appendage, Ig-like subdomain (1);Clathrin adaptor, gamma-adaptin, appendage (2);Clathrin adaptor, alpha/beta/gamma-adaptin, appendage, Ig-like subdomain (2);	0.114666	0.64402	D	0.000014	T	0.48978	0.1530	L	0.31157	0.91	0.80722	D	1	B;P;B	0.46656	0.025;0.882;0.025	B;D;B	0.68765	0.034;0.96;0.034	T	0.29427	-1.0012	10	0.22109	T	0.4	-30.363	12.151	0.54050	0.8566:0.1434:0.0:0.0	.	609;505;592	Q6IC75;Q86YA9;Q9UJY5	.;.;GGA1_HUMAN	V	592;609;505;559;519	ENSP00000341344:I592V;ENSP00000371175:I609V;ENSP00000321288:I505V;ENSP00000338647:I559V;ENSP00000385287:I519V	ENSP00000321288:I505V	I	+	1	0	GGA1	36358433	0.946000	0.32159	0.647000	0.29507	0.217000	0.24651	2.128000	0.42045	0.816000	0.34421	0.459000	0.35465	ATC		0.637	GGA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075873.3	NM_013365		16	162	0	0	0	1	0	16	162					G	38028487	A	G	38028487	3	3	242	1	0	0	0	0	1	0	0	0	6352	101	4	4	1902	4	GGA1	22	38028487	Missense_Mutation	SNP	A	TCGA-HC-A632-01A-11D-A29Q-08	11734114	38028487	13276079	49	11401											
XG	7499	broad.mit.edu	37	chrX	2726251	2726251	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatcaccattcaacgtatggCaatccagaaggtaactgatt	14	10	8	9	1	2	2	2	1	0	1	3	3	3	2	2	2	2	3	2	2	5	4			TCGA-HC-A632-01A-11D-A29Q-08	TCGA-HC-A632-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62488eee-4473-454e-89d3-7102d7c34977	c00991ab-7597-4eaf-9574-ef30295beeb9	g.chrX:2726251C>T	ENST00000381174.5	+	8	624	c.399C>T	c.(397-399)ggC>ggT	p.G133G	XG_ENST00000426774.1_Silent_p.G134G|XG_ENST00000419513.2_Silent_p.G148G			P55808	XG_HUMAN	Xg blood group	133						integral component of plasma membrane (GO:0005887)				endometrium(1)|large_intestine(3)|lung(3)|ovary(1)	8		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)				CAACGTATGGCAATCCAGAAG	0.493																																						ENST00000426774.1																			0				endometrium(1)|large_intestine(3)|lung(3)|ovary(1)	8						c.(400-402)ggC>ggT		Xg blood group							120	86	97					X																	2726251		2203	4298	6501	SO:0001819	synonymous_variant	7499					integral to membrane|plasma membrane		g.chrX:2726251C>T	AF380356	CCDS14120.1, CCDS48073.1	Xp22.32	2014-07-19	2006-01-12		ENSG00000124343	ENSG00000124343		"Blood group antigens", "Pseudoautosomal regions / PAR1"	12806	protein-coding gene	gene with protein product		300879	"Xg blood group (pseudoautosomal boundary-divided on the X chromosome)"	PBDX		8054981	Standard	NM_175569		Approved		uc004cqp.3	P55808	OTTHUMG00000021075	ENST00000381174.5:c.399C>T	X.37:g.2726251C>T						XG_ENST00000381174.5_Silent_p.G133G|XG_ENST00000419513.2_Silent_p.G148G	p.G134G	NM_001141920.1|NM_175569.2	NP_001135392.1|NP_780778.1	P55808	XG_HUMAN			8	625	+		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)	133					E9PCH1|Q496N8|Q496N9|Q496P0|Q71BZ5	Silent	SNP	ENST00000381174.5	37	c.402C>T	CCDS14120.1																																																																																				0.493	XG-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000055633.2	NM_175569		3	22	0	0	0	1	0	3	22					T	2726251	C	T	2726251	2	4	242	1	0	0	0	0	0	0	0	1	17424	697	25	3		3	XG	23	2726251	Silent	SNP	C	TCGA-HC-A632-01A-11D-A29Q-08		2726251	152544309	50	11402											
YIPF6	286451	broad.mit.edu	37	chrX	67718941	67718941	+	Frame_Shift_Del	DEL	G	G	-																															gaggagtctccaggagacccGgggacagcatcgcccaggcc																										TCGA-HC-A632-01A-11D-A29Q-08	TCGA-HC-A632-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62488eee-4473-454e-89d3-7102d7c34977	c00991ab-7597-4eaf-9574-ef30295beeb9	g.chrX:67718941delG	ENST00000462683.1	+	1	777	c.33delG	c.(31-33)ccgfs	p.P11fs	YIPF6_ENST00000470730.1_3'UTR|YIPF6_ENST00000374622.2_Frame_Shift_Del_p.P11fs	NM_173834.3	NP_776195.2	Q96EC8	YIPF6_HUMAN	Yip1 domain family, member 6	11					intestinal epithelial cell development (GO:0060576)	cis-Golgi network (GO:0005801)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle (GO:0030134)|integral component of membrane (GO:0016021)|trans-Golgi network (GO:0005802)				cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|urinary_tract(1)	7						CAGGAGACCCGGGGACAGCAT	0.667																																						ENST00000462683.1																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|urinary_tract(1)	7						c.(31-33)ccfs		Yip1 domain family, member 6							31	30	31					X																	67718941		2186	4282	6468	SO:0001589	frameshift_variant	286451					endoplasmic reticulum|integral to membrane		g.chrX:67718941delG	BC012469	CCDS14389.1, CCDS56604.1	Xq13.1	2008-02-05			ENSG00000181704	ENSG00000181704		"Yip1 domain family"	28304	protein-coding gene	gene with protein product						12477932	Standard	NM_173834		Approved	MGC21416, FinGER6	uc004dwz.3	Q96EC8	OTTHUMG00000021745	ENST00000462683.1:c.33delG	X.37:g.67718941delG	ENSP00000417573:p.Pro11fs					YIPF6_ENST00000374622.2_Frame_Shift_Del_p.P11fs|YIPF6_ENST00000470730.1_3'UTR	p.P11fs	NM_173834.3	NP_776195.2	Q96EC8	YIPF6_HUMAN			1	777	+			11					B4E1U7|G5E997|Q5JP08	Frame_Shift_Del	DEL	ENST00000462683.1	37	c.33delG	CCDS14389.1																																																																																				0.667	YIPF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057016.1	NM_173834		2	4						2	4	---	---	---	---	-	67718941	G	-	67718941	7	5	242	1	0	1	0	1	0	0	0	0	17479	1103	39	0	35	0	YIPF6	23	67718941	Frame_Shift_Del	DEL	G	TCGA-HC-A632-01A-11D-A29Q-08	64992690	67718941	87551619	51	11403											
PTCHD2	57540	broad.mit.edu	37	chr1	11576180	11576180	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaccttcttcacctccctgAccacagccgccgcctacgca	7	7	5	22	3	2	1	1	1	1	0	3	1	3	1	8	0	2	1	8	0	1	3			TCGA-HC-A6AL-01A-11D-A30E-08	TCGA-HC-A6AL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	737965eb-4771-4559-b50a-0a8a12278942	093d9856-cabb-4d96-8609-b309430a7078	g.chr1:11576180A>G	ENST00000294484.6	+	6	1849	c.1711A>G	c.(1711-1713)Acc>Gcc	p.T571A	PTCHD2_ENST00000389575.3_Missense_Mutation_p.T571A	NM_020780.1	NP_065831.1	Q9P2K9	PTHD2_HUMAN	patched domain containing 2	571	SSD. {ECO:0000255|PROSITE- ProRule:PRU00199}.				cholesterol homeostasis (GO:0042632)|regulation of lipid transport (GO:0032368)|smoothened signaling pathway (GO:0007224)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965)	hedgehog receptor activity (GO:0008158)			NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	76	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)		CACCTCCCTGACCACAGCCGC	0.622																																						ENST00000294484.6																			0				NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	76						c.(1711-1713)Acc>Gcc		patched domain containing 2							88	103	98					1																	11576180		2176	4263	6439	SO:0001583	missense	57540				cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway	endoplasmic reticulum|integral to membrane|nuclear membrane	hedgehog receptor activity	g.chr1:11576180A>G	AB037758	CCDS41247.1	1p36.22	2010-02-17			ENSG00000204624	ENSG00000204624			29251	protein-coding gene	gene with protein product		611251				15738394	Standard	NM_020780		Approved	KIAA1337, DISP3	uc001ash.4	Q9P2K9	OTTHUMG00000002074	ENST00000294484.6:c.1711A>G	1.37:g.11576180A>G	ENSP00000294484:p.Thr571Ala					PTCHD2_ENST00000389575.3_Missense_Mutation_p.T571A	p.T571A	NM_020780.1	NP_065831.1	Q9P2K9	PTHD2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)	6	1849	+	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	571			SSD.		Q5VTU9|Q9UJD6	Missense_Mutation	SNP	ENST00000294484.6	37	c.1711A>G	CCDS41247.1	.	.	.	.	.	.	.	.	.	.	A	24.4	4.527066	0.85706	.	.	ENSG00000204624	ENST00000294484;ENST00000389575	D;D	0.93953	-3.32;-3.32	5.5	5.5	0.81552	Sterol-sensing domain (1);	0.000000	0.85682	D	0.000000	D	0.96433	0.8836	M	0.79614	2.46	0.80722	D	1	D	0.76494	0.999	D	0.85130	0.997	D	0.96821	0.9604	10	0.66056	D	0.02	-51.1442	14.7888	0.69824	1.0:0.0:0.0:0.0	.	571	Q9P2K9	PTHD2_HUMAN	A	571	ENSP00000294484:T571A;ENSP00000374226:T571A	ENSP00000294484:T571A	T	+	1	0	PTCHD2	11498767	1.000000	0.71417	1.000000	0.80357	0.815000	0.46073	8.767000	0.91732	2.094000	0.63399	0.454000	0.30748	ACC		0.622	PTCHD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000005770.2	XM_052561		17	74	0	0	0	1	0	17	74					G	11576180	A	G	11576180	3	3	243	1	0	0	0	0	1	0	0	0	12733	275	10	4	1729	4	PTCHD2	1	11576180	Missense_Mutation	SNP	A	TCGA-HC-A6AL-01A-11D-A30E-08		11576180	237674441	1	11404											
TIE1	7075	broad.mit.edu	37	chr1	43777678	43777678	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcccagtggaccccagtgaGaacgtgacgttaatgaacct	11	7	11	12	3	0	3	0	3	0	1	0	5	0	4	4	1	2	1	4	1	3	1			TCGA-HC-A6AL-01A-11D-A30E-08	TCGA-HC-A6AL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	737965eb-4771-4559-b50a-0a8a12278942	093d9856-cabb-4d96-8609-b309430a7078	g.chr1:43777678G>T	ENST00000372476.3	+	11	1585	c.1506G>T	c.(1504-1506)gaG>gaT	p.E502D	TIE1_ENST00000433781.2_Missense_Mutation_p.E147D	NM_001253357.1|NM_005424.4	NP_001240286.1|NP_005415.1	P35590	TIE1_HUMAN	tyrosine kinase with immunoglobulin-like and EGF-like domains 1	502	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				angiogenesis (GO:0001525)|in utero embryonic development (GO:0001701)|mesoderm development (GO:0007498)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell migration (GO:0030336)|peptidyl-tyrosine phosphorylation (GO:0018108)|plasma membrane fusion (GO:0045026)|response to retinoic acid (GO:0032526)|signal transduction (GO:0007165)|vasculogenesis (GO:0001570)	integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	70	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				ACCCCAGTGAGAACGTGACGT	0.597																																						ENST00000372476.3																			0				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	70						c.(1504-1506)gaG>gaT		tyrosine kinase with immunoglobulin-like and EGF-like domains 1							107	101	103					1																	43777678		2203	4300	6503	SO:0001583	missense	7075				mesoderm development	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity	g.chr1:43777678G>T	BC038239	CCDS482.1	1p34-p33	2013-02-11	2004-12-13	2004-12-14	ENSG00000066056	ENSG00000066056	2.7.10.1	"Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	11809	protein-coding gene	gene with protein product		600222	"tyrosine kinase with immunoglobulin and epidermal growth factor homology domains 1"	TIE		1312667	Standard	NM_005424		Approved	JTK14	uc001ciu.3	P35590	OTTHUMG00000007282	ENST00000372476.3:c.1506G>T	1.37:g.43777678G>T	ENSP00000361554:p.Glu502Asp					TIE1_ENST00000433781.2_Missense_Mutation_p.E147D	p.E502D	NM_001253357.1|NM_005424.4	NP_001240286.1|NP_005415.1	P35590	TIE1_HUMAN			11	1585	+	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)	502			Fibronectin type-III 1.		B5A949|B5A950	Missense_Mutation	SNP	ENST00000372476.3	37	c.1506G>T	CCDS482.1	.	.	.	.	.	.	.	.	.	.	G	15.13	2.741176	0.49151	.	.	ENSG00000066056	ENST00000372476;ENST00000433781	T;T	0.59906	0.23;0.23	5.37	3.1	0.35709	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.40469	N	0.001083	T	0.61110	0.2321	L	0.52759	1.655	0.45194	D	0.998205	P;D;P;P;D	0.54964	0.873;0.961;0.889;0.896;0.969	B;P;B;P;P	0.57324	0.439;0.764;0.426;0.575;0.818	T	0.58901	-0.7554	10	0.37606	T	0.19	.	8.8667	0.35291	0.3275:0.0:0.6725:0.0	.	147;457;502;147;502	E9PG63;B4DTW8;B5A952;B4DKW0;P35590	.;.;.;.;TIE1_HUMAN	D	502;147	ENSP00000361554:E502D;ENSP00000411728:E147D	ENSP00000361554:E502D	E	+	3	2	TIE1	43550265	1.000000	0.71417	1.000000	0.80357	0.641000	0.38312	0.880000	0.28159	1.402000	0.46780	0.563000	0.77884	GAG		0.597	TIE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019011.1	NM_005424		22	123	1	0	3.28513e-13	1	3.60901e-13	22	123					T	43777678	G	T	43777678	3	4	243	1	0	0	0	0	1	0	0	0	15890	933	33	5	1548	5	TIE1	1	43777678	Missense_Mutation	SNP	G	TCGA-HC-A6AL-01A-11D-A30E-08	32201498	43777678	205472943	2	11405											
ERO1LB	56605	broad.mit.edu	37	chr1	236399660	236399660	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agtgtaacgctctgggttcaGcaataggtctacatactgag	11	11	11	8	1	3	1	1	1	2	0	3	1	3	1	0	2	4	4	0	2	5	5			TCGA-HC-A6AL-01A-11D-A30E-08	TCGA-HC-A6AL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	737965eb-4771-4559-b50a-0a8a12278942	093d9856-cabb-4d96-8609-b309430a7078	g.chr1:236399660G>A	ENST00000354619.5	-	7	745	c.544C>T	c.(544-546)Ctg>Ttg	p.L182L	ERO1LB_ENST00000327333.8_3'UTR	NM_019891.3	NP_063944.3	Q86YB8	ERO1B_HUMAN	ERO1-like beta (S. cerevisiae)	182					4-hydroxyproline metabolic process (GO:0019471)|cell redox homeostasis (GO:0045454)|extracellular matrix organization (GO:0030198)|glucose homeostasis (GO:0042593)|insulin processing (GO:0030070)|protein folding (GO:0006457)|protein maturation by protein folding (GO:0022417)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)	oxidoreductase activity (GO:0016491)|oxidoreductase activity, acting on a sulfur group of donors, disulfide as acceptor (GO:0016671)|protein disulfide isomerase activity (GO:0003756)|protein disulfide oxidoreductase activity (GO:0015035)|unfolded protein binding (GO:0051082)			NS(1)|endometrium(3)|large_intestine(8)|lung(8)|skin(2)|urinary_tract(1)	23	Ovarian(103;0.0634)|Breast(184;0.247)	all_cancers(173;0.123)|Acute lymphoblastic leukemia(190;0.205)|Prostate(94;0.219)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		Flavin adenine dinucleotide(DB03147)	TCTGGGTTCAGCAATAGGTCT	0.418																																						ENST00000354619.5																			0				NS(1)|endometrium(3)|large_intestine(8)|lung(8)|skin(2)|urinary_tract(1)	23						c.(544-546)Ctg>Ttg		ERO1-like beta (S. cerevisiae)							141	144	143					1																	236399660		2203	4300	6503	SO:0001819	synonymous_variant	56605				electron transport chain|protein thiol-disulfide exchange|transport	endoplasmic reticulum membrane	flavin adenine dinucleotide binding|oxidoreductase activity, acting on a sulfur group of donors, disulfide as acceptor|unfolded protein binding	g.chr1:236399660G>A	AF252538	CCDS31064.1	1q42.2-q43	2008-02-05			ENSG00000086619	ENSG00000086619			14355	protein-coding gene	gene with protein product		615437				10818100	Standard	NM_019891		Approved	ERO1-L(beta)	uc001hxt.3	Q86YB8	OTTHUMG00000039955	ENST00000354619.5:c.544C>T	1.37:g.236399660G>A						ERO1LB_ENST00000327333.8_3'UTR	p.L182L	NM_019891.3	NP_063944.3	Q86YB8	ERO1B_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		7	745	-	Ovarian(103;0.0634)|Breast(184;0.247)	all_cancers(173;0.123)|Acute lymphoblastic leukemia(190;0.205)|Prostate(94;0.219)	182					B4DF57|Q5T1H4|Q8IZ11|Q9NR62	Silent	SNP	ENST00000354619.5	37	c.544C>T	CCDS31064.1																																																																																				0.418	ERO1LB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096371.1	NM_019891		29	131	0	0	0	1	0	29	131					A	236399660	G	A	236399660	2	1	243	1	0	0	0	0	0	0	0	1	5240	962	34	3		3	ERO1LB	1	236399660	Silent	SNP	G	TCGA-HC-A6AL-01A-11D-A30E-08	192621982	236399660	12850961	3	11406											
ZNF692	55657	broad.mit.edu	37	chr1	249150721	249150721	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ccacatcctcacctgggcaaCctggcctcttgagtcctctc	6	10	7	18	0	3	1	1	1	2	0	6	1	5	1	6	2	1	1	6	2	1	1			TCGA-HC-A6AL-01A-11D-A30E-08	TCGA-HC-A6AL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	737965eb-4771-4559-b50a-0a8a12278942	093d9856-cabb-4d96-8609-b309430a7078	g.chr1:249150721C>G	ENST00000306601.4	-	5	682	c.516G>C	c.(514-516)agG>agC	p.R172S	ZNF692_ENST00000427146.1_Missense_Mutation_p.R172S|ZNF692_ENST00000366471.3_Missense_Mutation_p.R172S|ZNF692_ENST00000366469.5_Missense_Mutation_p.R172S|ZNF692_ENST00000451251.1_Missense_Mutation_p.R177S|AL672294.1_ENST00000417047.1_RNA|ZNF692_ENST00000468455.1_5'UTR	NM_017865.3	NP_060335.2	Q9BU19	ZN692_HUMAN	zinc finger protein 692	172					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|large_intestine(6)|lung(7)|stomach(1)	17	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.19)	OV - Ovarian serous cystadenocarcinoma(106;0.00805)			ACCTGGGCAACCTGGCCTCTT	0.527																																						ENST00000451251.1																			0				endometrium(3)|large_intestine(6)|lung(7)|stomach(1)	17						c.(529-531)agG>agC		zinc finger protein 692							158	147	151					1																	249150721		2203	4300	6503	SO:0001583	missense	55657				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:249150721C>G	BC002948	CCDS31127.1, CCDS44348.1, CCDS53487.1	1q44	2013-01-08			ENSG00000171163	ENSG00000171163		"Zinc fingers, C2H2-type"	26049	protein-coding gene	gene with protein product						12477932	Standard	NM_001136036		Approved	FLJ20531, Zfp692	uc001ifc.2	Q9BU19	OTTHUMG00000040423	ENST00000306601.4:c.516G>C	1.37:g.249150721C>G	ENSP00000305483:p.Arg172Ser					ZNF692_ENST00000366471.3_Missense_Mutation_p.R172S|ZNF692_ENST00000468455.1_5'UTR|ZNF692_ENST00000306601.4_Missense_Mutation_p.R172S|ZNF692_ENST00000427146.1_Missense_Mutation_p.R172S|ZNF692_ENST00000366469.5_Missense_Mutation_p.R172S	p.R177S	NM_001136036.2	NP_001129508.1	Q9BU19	ZN692_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00805)		5	876	-	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.19)	172					B4DXZ0|Q5SRA5|Q5SRA6|Q9HBC9|Q9NW93|Q9NWY6|Q9UF97	Missense_Mutation	SNP	ENST00000306601.4	37	c.531G>C	CCDS31127.1	.	.	.	.	.	.	.	.	.	.	C	8.200	0.798034	0.16327	.	.	ENSG00000171163	ENST00000306601;ENST00000427146;ENST00000366471;ENST00000366469;ENST00000451251	T;T;T;T;T	0.07021	3.25;3.3;3.3;3.23;3.23	4.18	2.27	0.28462	.	0.636414	0.15494	N	0.259402	T	0.07683	0.0193	L	0.57536	1.79	0.09310	N	1	B;B;B	0.17268	0.012;0.021;0.012	B;B;B	0.11329	0.006;0.006;0.006	T	0.40040	-0.9584	10	0.15066	T	0.55	-5.232	4.9802	0.14160	0.2235:0.6683:0.0:0.1082	.	177;172;172	B4DXZ0;Q9BU19-2;Q9BU19	.;.;ZN692_HUMAN	S	172;172;172;172;177	ENSP00000305483:R172S;ENSP00000390044:R172S;ENSP00000355427:R172S;ENSP00000355425:R172S;ENSP00000391200:R177S	ENSP00000305483:R172S	R	-	3	2	ZNF692	247117344	0.000000	0.05858	0.015000	0.15790	0.976000	0.68499	0.428000	0.21395	0.687000	0.31509	0.462000	0.41574	AGG		0.527	ZNF692-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000097298.1	NM_017865		9	77	0	0	0	1	0	9	77					G	249150721	C	G	249150721	3	3	243	1	0	0	0	0	1	0	0	0	18094	506	18	5	1075	5	ZNF692	1	249150721	Missense_Mutation	SNP	C	TCGA-HC-A6AL-01A-11D-A30E-08	12751061	249150721	99900	4	11407											
DPP10	57628	broad.mit.edu	37	chr2	116497321	116497321	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcatttattctagaggaacTcctgcattctcacatcgccc	9	13	5	14	1	3	1	2	0	2	1	6	2	4	2	2	1	2	1	2	1	3	5			TCGA-HC-A6AL-01A-11D-A30E-08	TCGA-HC-A6AL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	737965eb-4771-4559-b50a-0a8a12278942	093d9856-cabb-4d96-8609-b309430a7078	g.chr2:116497321T>C	ENST00000410059.1	+	9	1184	c.704T>C	c.(703-705)cTc>cCc	p.L235P	DPP10_ENST00000488208.1_3'UTR|DPP10_ENST00000409163.1_Missense_Mutation_p.L185P|DPP10_ENST00000310323.8_Missense_Mutation_p.L228P|DPP10_ENST00000393147.2_Missense_Mutation_p.L239P	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919	Q8N608	DPP10_HUMAN	dipeptidyl-peptidase 10 (non-functional)	235						integral component of membrane (GO:0016021)|membrane (GO:0016020)	serine-type peptidase activity (GO:0008236)			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						CTAGAGGAACTCCTGCATTCT	0.458																																						ENST00000410059.1																			0				breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						c.(703-705)cTc>cCc		dipeptidyl-peptidase 10 (non-functional)							126	118	120					2																	116497321		2203	4300	6503	SO:0001583	missense	57628				proteolysis	integral to membrane|membrane fraction	serine-type peptidase activity	g.chr2:116497321T>C	AY172661	CCDS33278.1, CCDS46400.1, CCDS54388.1, CCDS54389.1	2q14.1	2010-05-04	2010-05-04		ENSG00000175497	ENSG00000175497			20823	protein-coding gene	gene with protein product		608209	"dipeptidylpeptidase 10", "dipeptidyl-peptidase 10"			10819331, 12662155	Standard	NM_020868		Approved	DPRP3	uc002tle.3	Q8N608	OTTHUMG00000153294	ENST00000410059.1:c.704T>C	2.37:g.116497321T>C	ENSP00000386565:p.Leu235Pro					DPP10_ENST00000310323.8_Missense_Mutation_p.L228P|DPP10_ENST00000393147.2_Missense_Mutation_p.L239P|DPP10_ENST00000488208.1_3'UTR|DPP10_ENST00000409163.1_Missense_Mutation_p.L185P	p.L235P	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919.2	Q8N608	DPP10_HUMAN			9	1184	+			235					A8K1Q2|J3KPP2|J3KQ46|Q0GLB8|Q53QT3|Q53S86|Q53SL8|Q53SS4|Q6TTV4|Q86YR9|Q9P236	Missense_Mutation	SNP	ENST00000410059.1	37	c.704T>C	CCDS46400.1	.	.	.	.	.	.	.	.	.	.	T	22.0	4.224313	0.79576	.	.	ENSG00000175497	ENST00000410059;ENST00000409163;ENST00000393146;ENST00000393147;ENST00000310323;ENST00000476155	T;T;D;T;T	0.96168	1.48;1.48;-3.93;1.48;1.48	5.1	5.1	0.69264	Peptidase S9B, dipeptidylpeptidase IV N-terminal (1);	0.259874	0.38837	N	0.001552	D	0.92097	0.7495	N	0.08118	0	0.80722	D	1	P;P;P;P	0.48589	0.855;0.912;0.88;0.88	P;P;P;P	0.50791	0.468;0.65;0.603;0.603	D	0.93900	0.7187	10	0.87932	D	0	-31.0348	14.5113	0.67789	0.0:0.0:0.0:1.0	.	228;239;231;235	Q8N608-2;Q0GLB8;Q0GLB9;Q8N608	.;.;.;DPP10_HUMAN	P	235;185;231;239;228;185	ENSP00000386565:L235P;ENSP00000387038:L185P;ENSP00000376854:L231P;ENSP00000376855:L239P;ENSP00000309066:L228P	ENSP00000309066:L228P	L	+	2	0	DPP10	116213791	1.000000	0.71417	0.997000	0.53966	0.972000	0.66771	7.825000	0.86693	2.270000	0.75569	0.460000	0.39030	CTC		0.458	DPP10-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000330580.4	NM_020868		35	76	0	0	0	1	0	35	76					C	116497321	T	C	116497321	3	2	243	1	0	0	0	0	1	0	0	0	4727	1551	54	4	909	4	DPP10	2	116497321	Missense_Mutation	SNP	T	TCGA-HC-A6AL-01A-11D-A30E-08		116497321	126702052	5	11408											
LRP1B	53353	broad.mit.edu	37	chr2	141215220	141215220	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggaatatcttgattagggActgtaataggagatggtaag	13	12	13	3	0	1	2	0	1	1	1	1	5	1	4	0	4	0	2	0	4	6	6			TCGA-HC-A6AL-01A-11D-A30E-08	TCGA-HC-A6AL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	737965eb-4771-4559-b50a-0a8a12278942	093d9856-cabb-4d96-8609-b309430a7078	g.chr2:141215220A>G	ENST00000389484.3	-	61	10597	c.9626T>C	c.(9625-9627)gTc>gCc	p.V3209A		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	3209					protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TTGATTAGGGACTGTAATAGG	0.398										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	ENST00000389484.3																			0				NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606						c.e61-1		low density lipoprotein receptor-related protein 1B							145	133	137					2																	141215220		2203	4300	6503	SO:0001630	splice_region_variant	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141215220A>G	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"Low density lipoprotein receptors"	6693	protein-coding gene	gene with protein product	"LRP-deleted in tumors"	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.9626-1T>C	2.37:g.141215220A>G		TSP Lung(27;0.18)					p.V3209_splice	NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)	61	10597	-		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)	3209					Q8WY29|Q8WY30|Q8WY31	Splice_Site	SNP	ENST00000389484.3	37	c.9625_splice	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	A	18.05	3.537040	0.65085	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	D	0.91740	-2.9	5.19	5.19	0.71726	Six-bladed beta-propeller, TolB-like (1);Growth factor, receptor (1);	0.000000	0.64402	U	0.000003	D	0.95746	0.8616	M	0.80847	2.515	0.54753	D	0.999982	D	0.58970	0.984	D	0.68192	0.956	D	0.95901	0.8915	10	0.54805	T	0.06	.	15.0629	0.71970	1.0:0.0:0.0:0.0	.	3209	Q9NZR2	LRP1B_HUMAN	A	3209;3147	ENSP00000374135:V3209A	ENSP00000374135:V3209A	V	-	2	0	LRP1B	140931690	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.307000	0.96226	1.952000	0.56665	0.533000	0.62120	GTC		0.398	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557	Missense_Mutation	10	116	0	0	0	1	0	10	116					G	141215220	A	G	141215220	5	3	243	1	0	0	0	0	0	0	1	0	8955	289	10	4	4297	4	LRP1B	2	141215220	Splice_Site	SNP	A	TCGA-HC-A6AL-01A-11D-A30E-08	24717899	141215220	101984153	6	11409											
SCN7A	6332	broad.mit.edu	37	chr2	167279862	167279862	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaagcatttccagaatgaaGatataagtaaagatcatgtc	18	10	8	5	0	1	5	1	1	0	4	3	5	2	5	1	0	1	2	1	0	7	4			TCGA-HC-A6AL-01A-11D-A30E-08	TCGA-HC-A6AL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	737965eb-4771-4559-b50a-0a8a12278942	093d9856-cabb-4d96-8609-b309430a7078	g.chr2:167279862G>T	ENST00000409855.1	-	18	3060	c.2934C>A	c.(2932-2934)atC>atA	p.I978I		NM_002976.3	NP_002967.2	Q01118	SCN7A_HUMAN	sodium channel, voltage-gated, type VII, alpha subunit	978					membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|neuronal action potential (GO:0019228)|sodium ion homeostasis (GO:0055078)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	glial cell projection (GO:0097386)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44					Valproic Acid(DB00313)	CCAGAATGAAGATATAAGTAA	0.323																																						ENST00000409855.1																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44						c.(2932-2934)atC>atA		sodium channel, voltage-gated, type VII, alpha subunit							82	77	78					2																	167279862		1923	4182	6105	SO:0001819	synonymous_variant	6332				muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:167279862G>T	M91556	CCDS46442.1	2q21-q23	2012-03-05	2012-02-28	2002-06-14	ENSG00000136546	ENSG00000136546		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10594	protein-coding gene	gene with protein product		182392	"sodium channel, voltage-gated, type VI, alpha", "sodium channel, voltage-gated, type VII, alpha"	SCN6A		10198179	Standard	NM_002976		Approved	Nav2.1, Nav2.2, NaG	uc002udu.2	Q01118	OTTHUMG00000154078	ENST00000409855.1:c.2934C>A	2.37:g.167279862G>T							p.I978I	NM_002976.3	NP_002967.2	Q01118	SCN7A_HUMAN			18	3060	-			978						Silent	SNP	ENST00000409855.1	37	c.2934C>A	CCDS46442.1																																																																																				0.323	SCN7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333745.1			6	50	1	0	0.0215528	1	0.0218327	6	50					T	167279862	G	T	167279862	2	4	243	1	0	0	0	0	0	0	0	1	13923	932	33	5		5	SCN7A	2	167279862	Silent	SNP	G	TCGA-HC-A6AL-01A-11D-A30E-08	26064642	167279862	75919511	7	11410											
AMT	275	broad.mit.edu	37	chr3	49455030	49455030	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atcttgctgactacagccatCtgctgcttccgccgcacctc	6	11	7	17	2	2	1	0	1	2	0	4	1	3	1	4	0	5	4	4	0	1	3			TCGA-HC-A6AL-01A-11D-A30E-08	TCGA-HC-A6AL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	737965eb-4771-4559-b50a-0a8a12278942	093d9856-cabb-4d96-8609-b309430a7078	g.chr3:49455030C>G	ENST00000273588.3	-	9	1457	c.1155G>C	c.(1153-1155)caG>caC	p.Q385H	AMT_ENST00000458307.2_Missense_Mutation_p.Q341H|AMT_ENST00000395338.2_Intron|AMT_ENST00000538581.1_Missense_Mutation_p.Q329H|AMT_ENST00000476226.1_5'UTR|AMT_ENST00000546031.1_Missense_Mutation_p.Q288H	NM_000481.3	NP_000472.2	P48728	GCST_HUMAN	aminomethyltransferase	385					glycine catabolic process (GO:0006546)	mitochondrion (GO:0005739)	aminomethyltransferase activity (GO:0004047)|transaminase activity (GO:0008483)			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|skin(1)	6				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	Tetrahydrofolic acid(DB00116)	CTACAGCCATCTGCTGCTTCC	0.572																																						ENST00000273588.3																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|skin(1)	6						c.(1153-1155)caG>caC		aminomethyltransferase	NADH(DB00157)|Tetrahydrofolic acid(DB00116)						101	93	96					3																	49455030		2203	4300	6503	SO:0001583	missense	275				glycine catabolic process	mitochondrion	aminomethyltransferase activity|transaminase activity	g.chr3:49455030C>G	D13811	CCDS2797.1, CCDS54583.1, CCDS54584.1, CCDS54585.1	3p21.2-p21.1	2014-09-17	2006-05-22		ENSG00000145020	ENSG00000145020	2.1.2.10		473	protein-coding gene	gene with protein product	"glycine cleavage system protein T"	238310	"aminomethyltransferase (glycine cleavage system protein T)"			1993704, 8188235	Standard	NM_000481		Approved	GCST, NKH	uc003cww.3	P48728	OTTHUMG00000156847	ENST00000273588.3:c.1155G>C	3.37:g.49455030C>G	ENSP00000273588:p.Gln385His					AMT_ENST00000538581.1_Missense_Mutation_p.Q329H|AMT_ENST00000395338.2_Intron|AMT_ENST00000476226.1_5'UTR|AMT_ENST00000458307.2_Missense_Mutation_p.Q341H|AMT_ENST00000546031.1_Missense_Mutation_p.Q288H	p.Q385H	NM_000481.3	NP_000472.2	P48728	GCST_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	9	1457	-			385					A8K3I5|B4DE61|B4DJQ0|E9PBG1|Q96IG6	Missense_Mutation	SNP	ENST00000273588.3	37	c.1155G>C	CCDS2797.1	.	.	.	.	.	.	.	.	.	.	C	12.82	2.053996	0.36277	.	.	ENSG00000145020	ENST00000458307;ENST00000273588;ENST00000538581;ENST00000546031	T;T;T;T	0.76186	-1.0;-1.0;-1.0;-1.0	5.18	3.3	0.37823	Glycine cleavage T-protein, C-terminal barrel (1);	0.132739	0.49916	D	0.000122	T	0.56761	0.2007	N	0.25094	0.71	0.35328	D	0.785367	B;B;B	0.15141	0.005;0.012;0.002	B;B;B	0.17979	0.012;0.02;0.007	T	0.53107	-0.8485	10	0.22109	T	0.4	-18.4385	8.4194	0.32692	0.0:0.7935:0.0:0.2065	.	329;341;385	B4DE61;B4DJQ0;P48728	.;.;GCST_HUMAN	H	341;385;329;288	ENSP00000415619:Q341H;ENSP00000273588:Q385H;ENSP00000443200:Q329H;ENSP00000440672:Q288H	ENSP00000273588:Q385H	Q	-	3	2	AMT	49430034	0.208000	0.23494	0.988000	0.46212	0.996000	0.88848	0.782000	0.26788	0.509000	0.28195	0.563000	0.77884	CAG		0.572	AMT-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346216.2	NM_000481		32	137	0	0	0	1	0	32	137					G	49455030	C	G	49455030	3	3	243	1	0	0	0	0	1	0	0	0	589	912	32	5	88	5	AMT	3	49455030	Missense_Mutation	SNP	C	TCGA-HC-A6AL-01A-11D-A30E-08		49455030	148567400	8	11411											
MYLK	4638	broad.mit.edu	37	chr3	123419194	123419194	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagggtctcggcaggcttggCgttgcccattggcttcaggg	4	10	16	11	2	2	0	1	0	1	0	3	0	2	0	1	6	1	4	1	6	0	4	rs568590920		TCGA-HC-A6AL-01A-11D-A30E-08	TCGA-HC-A6AL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	737965eb-4771-4559-b50a-0a8a12278942	093d9856-cabb-4d96-8609-b309430a7078	g.chr3:123419194C>T	ENST00000475616.1	-	15	3120	c.3121G>A	c.(3121-3123)Gcc>Acc	p.A1041T	MYLK_ENST00000360772.3_Missense_Mutation_p.A1041T|MYLK_ENST00000510775.1_5'Flank|MYLK_ENST00000360304.3_Missense_Mutation_p.A1041T|MYLK_ENST00000346322.5_Missense_Mutation_p.A972T|MYLK_ENST00000359169.1_Missense_Mutation_p.A1041T			Q15746	MYLK_HUMAN	myosin light chain kinase	1041	6 X 12 AA approximate tandem repeats.				actin filament organization (GO:0007015)|aorta smooth muscle tissue morphogenesis (GO:0060414)|bleb assembly (GO:0032060)|cellular hypotonic response (GO:0071476)|muscle contraction (GO:0006936)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cell migration (GO:0030335)|positive regulation of wound healing (GO:0090303)|protein phosphorylation (GO:0006468)|smooth muscle contraction (GO:0006939)|tonic smooth muscle contraction (GO:0014820)	cell-cell junction (GO:0005911)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|metal ion binding (GO:0046872)|myosin light chain kinase activity (GO:0004687)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		GCAGGCTTGGCGTTGCCCATT	0.552																																						ENST00000360772.3																			0				NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113						c.(3121-3123)Gcc>Acc		myosin light chain kinase							167	173	171					3																	123419194		2203	4300	6503	SO:0001583	missense	4638				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity	g.chr3:123419194C>T	X85337	CCDS3023.1, CCDS43141.1, CCDS46896.1, CCDS46897.1, CCDS58849.1	3q21	2013-02-11	2008-01-23		ENSG00000065534	ENSG00000065534	2.7.11.18	"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	7590	protein-coding gene	gene with protein product	"smooth muscle myosin light chain kinase"	600922	"myosin, light polypeptide kinase"			8575746	Standard	NM_053026		Approved	MLCK, smMLCK, MYLK1, MLCK1	uc003ego.3	Q15746	OTTHUMG00000141304	ENST00000475616.1:c.3121G>A	3.37:g.123419194C>T	ENSP00000418335:p.Ala1041Thr					MYLK_ENST00000475616.1_Missense_Mutation_p.A1041T|MYLK_ENST00000346322.5_Missense_Mutation_p.A972T|MYLK_ENST00000360304.3_Missense_Mutation_p.A1041T|MYLK_ENST00000359169.1_Missense_Mutation_p.A1041T	p.A1041T			Q15746	MYLK_HUMAN		GBM - Glioblastoma multiforme(114;0.0736)	19	3499	-		Lung NSC(201;0.0496)	1041			6 X 12 AA approximate tandem repeats.		B4DUE3|D3DN97|O95796|O95797|O95798|O95799|Q14844|Q16794|Q17S15|Q3ZCP9|Q5MY99|Q5MYA0|Q6P2N0|Q7Z4J0|Q9C0L5|Q9UBG5|Q9UBY6|Q9UIT9	Missense_Mutation	SNP	ENST00000475616.1	37	c.3121G>A	CCDS46896.1	.	.	.	.	.	.	.	.	.	.	C	6.877	0.531219	0.13127	.	.	ENSG00000065534	ENST00000360772;ENST00000360304;ENST00000359169;ENST00000346322;ENST00000475616	T;T;T;T;T	0.72051	-0.57;-0.48;-0.57;-0.62;-0.48	5.64	0.763	0.18459	.	.	.	.	.	T	0.54967	0.1891	L	0.41824	1.3	0.20403	N	0.9999	B;B;P;B;P;B	0.50617	0.352;0.152;0.537;0.367;0.937;0.251	B;B;B;B;B;B	0.40940	0.046;0.03;0.057;0.074;0.344;0.018	T	0.46871	-0.9160	9	0.09843	T	0.71	.	9.373	0.38266	0.0:0.4868:0.0:0.5132	.	1041;119;972;1041;972;1041	Q15746-6;Q15746-7;Q15746-4;Q15746-3;Q15746-2;Q15746	.;.;.;.;.;MYLK_HUMAN	T	1041;1041;1041;972;1041	ENSP00000354004:A1041T;ENSP00000353452:A1041T;ENSP00000352088:A1041T;ENSP00000320622:A972T;ENSP00000418335:A1041T	ENSP00000320622:A972T	A	-	1	0	MYLK	124901884	0.036000	0.19791	0.066000	0.19879	0.260000	0.26232	0.256000	0.18351	-0.143000	0.11334	0.462000	0.41574	GCC		0.552	MYLK-004	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356464.1	NM_053025		5	310	0	0	0	1	0	5	310					T	123419194	C	T	123419194	3	4	243	1	0	0	0	0	1	0	0	0	10056	768	27	1	2691	1	MYLK	3	123419194	Missense_Mutation	SNP	C	TCGA-HC-A6AL-01A-11D-A30E-08	73964164	123419194	74603236	9	11412											
COPB2	9276	broad.mit.edu	37	chr3	139077851	139077851	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gccactcaccgtgacaagtgGgtattgtttggctggccaca	8	10	12	11	1	1	1	1	1	0	0	1	1	1	1	3	3	0	3	3	3	2	3			TCGA-HC-A6AL-01A-11D-A30E-08	TCGA-HC-A6AL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	737965eb-4771-4559-b50a-0a8a12278942	093d9856-cabb-4d96-8609-b309430a7078	g.chr3:139077851G>A	ENST00000333188.5	-	19	2654	c.2473C>T	c.(2473-2475)Cca>Tca	p.P825S	COPB2_ENST00000507777.1_Missense_Mutation_p.P796S	NM_004766.2	NP_004757.1	P35606	COPB2_HUMAN	coatomer protein complex, subunit beta 2 (beta prime)	825					COPI coating of Golgi vesicle (GO:0048205)|intra-Golgi vesicle-mediated transport (GO:0006891)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	COPI vesicle coat (GO:0030126)|cytosol (GO:0005829)	structural molecule activity (GO:0005198)			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	24						GTGACAAGTGGGTATTGTTTG	0.428																																						ENST00000333188.5																			0				breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	24						c.(2473-2475)Cca>Tca		coatomer protein complex, subunit beta 2 (beta prime)							139	142	141					3																	139077851		2203	4300	6503	SO:0001583	missense	9276				COPI coating of Golgi vesicle|intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol	protein binding|structural molecule activity	g.chr3:139077851G>A	BC000326	CCDS3108.1	3q23	2013-01-10			ENSG00000184432	ENSG00000184432		"WD repeat domain containing"	2232	protein-coding gene	gene with protein product		606990				9858824	Standard	NM_004766		Approved	beta'-COP, betaprime-COP	uc003etf.4	P35606	OTTHUMG00000159959	ENST00000333188.5:c.2473C>T	3.37:g.139077851G>A	ENSP00000329419:p.Pro825Ser					COPB2_ENST00000507777.1_Missense_Mutation_p.P796S	p.P825S	NM_004766.2	NP_004757.1	P35606	COPB2_HUMAN			19	2654	-			825					B4DZI8	Missense_Mutation	SNP	ENST00000333188.5	37	c.2473C>T	CCDS3108.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.59|15.59	2.880056|2.880056	0.51801|0.51801	.|.	.|.	ENSG00000184432|ENSG00000184432	ENST00000503326|ENST00000333188;ENST00000507777	.|T;T	.|0.62788	.|0.0;0.12	5.14|5.14	5.14|5.14	0.70334|0.70334	.|.	0.050281|0.050281	0.85682|0.85682	D|D	0.000000|0.000000	T|T	0.56093|0.56093	0.1962|0.1962	L|L	0.46157|0.46157	1.445|1.445	0.80722|0.80722	D|D	1|1	.|B	.|0.09022	.|0.002	.|B	.|0.06405	.|0.002	T|T	0.52586|0.52586	-0.8556|-0.8556	6|10	.|0.15499	.|T	.|0.54	-7.5439|-7.5439	18.5903|18.5903	0.91208|0.91208	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|825	.|P35606	.|COPB2_HUMAN	L|S	38|825;796	.|ENSP00000329419:P825S;ENSP00000422295:P796S	.|ENSP00000329419:P825S	P|P	-|-	2|1	0|0	COPB2|COPB2	140560541|140560541	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.975000|0.975000	0.68041|0.68041	7.462000|7.462000	0.80851|0.80851	2.382000|2.382000	0.81193|0.81193	0.655000|0.655000	0.94253|0.94253	CCC|CCA		0.428	COPB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358495.2	NM_004766		11	117	0	0	0	1	0	11	117					A	139077851	G	A	139077851	3	1	243	1	0	0	0	0	1	0	0	0	3729	1232	43	3	263	3	COPB2	3	139077851	Missense_Mutation	SNP	G	TCGA-HC-A6AL-01A-11D-A30E-08	15658657	139077851	58944579	10	11413											
RTP1	132112	broad.mit.edu	37	chr3	186917771	186917771	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cagacgggctcaggctggaaCttctgctctatcccctggtg	6	10	12	13	1	3	1	1	0	2	1	4	2	4	2	2	4	2	3	2	4	2	2			TCGA-HC-A6AL-01A-11D-A30E-08	TCGA-HC-A6AL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	737965eb-4771-4559-b50a-0a8a12278942	093d9856-cabb-4d96-8609-b309430a7078	g.chr3:186917771C>A	ENST00000312295.4	+	2	735	c.705C>A	c.(703-705)aaC>aaA	p.N235K	RP11-208N14.4_ENST00000356133.3_RNA	NM_153708.2	NP_714919.2	P59025	RTP1_HUMAN	receptor (chemosensory) transporter protein 1	235					protein insertion into membrane (GO:0051205)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	olfactory receptor binding (GO:0031849)			breast(2)|endometrium(4)|large_intestine(5)|lung(6)|ovary(3)|skin(2)	22	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.56e-18)	GBM - Glioblastoma multiforme(93;0.0269)		CAGGCTGGAACTTCTGCTCTA	0.602																																						ENST00000312295.4																			0				breast(2)|endometrium(4)|large_intestine(5)|lung(6)|ovary(3)|skin(2)	22						c.(703-705)aaC>aaA		receptor (chemosensory) transporter protein 1							79	74	76					3																	186917771		2203	4300	6503	SO:0001583	missense	132112				protein insertion into membrane	cell surface|integral to membrane|plasma membrane	olfactory receptor binding	g.chr3:186917771C>A	BC034744	CCDS3287.2	3q27.3	2014-02-20	2006-11-21		ENSG00000175077	ENSG00000175077		"Receptor transporter proteins"	28580	protein-coding gene	gene with protein product	"receptor transporting protein 1", "zinc finger, 3CxxC-type 1"	609137	"receptor transporter protein 1"			16271481, 15550249, 16720576	Standard	NM_153708		Approved	MGC35450, Z3CXXC1	uc003frg.3	P59025	OTTHUMG00000149886	ENST00000312295.4:c.705C>A	3.37:g.186917771C>A	ENSP00000311712:p.Asn235Lys					RP11-208N14.4_ENST00000356133.3_RNA	p.N235K	NM_153708.2	NP_714919.2	P59025	RTP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;5.56e-18)	GBM - Glioblastoma multiforme(93;0.0269)	2	735	+	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		235						Missense_Mutation	SNP	ENST00000312295.4	37	c.705C>A	CCDS3287.2	.	.	.	.	.	.	.	.	.	.	C	15.14	2.745474	0.49151	.	.	ENSG00000175077	ENST00000312295	T	0.24538	1.85	5.74	3.86	0.44501	.	0.067115	0.64402	D	0.000012	T	0.13329	0.0323	L	0.27053	0.805	0.26981	N	0.965369	P	0.43094	0.799	B	0.30401	0.115	T	0.10543	-1.0625	10	0.40728	T	0.16	.	8.5867	0.33662	0.0:0.8149:0.0:0.1851	.	235	P59025	RTP1_HUMAN	K	235	ENSP00000311712:N235K	ENSP00000311712:N235K	N	+	3	2	RTP1	188400465	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	0.606000	0.24194	0.701000	0.31803	0.655000	0.94253	AAC		0.602	RTP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313731.2	NM_153708		35	71	1	0	2.09667e-21	1	2.33628e-21	35	71					A	186917771	C	A	186917771	3	1	243	1	0	0	0	0	1	0	0	0	13733	564	20	5	711	5	RTP1	3	186917771	Missense_Mutation	SNP	C	TCGA-HC-A6AL-01A-11D-A30E-08	47839920	186917771	11104659	11	11414											
CCKAR	886	broad.mit.edu	37	chr4	26484871	26484871	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	caccatcatcacaattccagGaataagaaagaggatgagta	18	7	8	8	0	2	3	2	1	0	2	3	5	3	5	2	2	0	1	2	2	5	3	rs201996688		TCGA-HC-A6AL-01A-11D-A30E-08	TCGA-HC-A6AL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	737965eb-4771-4559-b50a-0a8a12278942	093d9856-cabb-4d96-8609-b309430a7078	g.chr4:26484871G>C	ENST00000295589.3	-	4	855	c.661C>G	c.(661-663)Cct>Gct	p.P221A		NM_000730.2	NP_000721.1	P32238	CCKAR_HUMAN	cholecystokinin A receptor	221					axonogenesis (GO:0007409)|cholecystokinin signaling pathway (GO:0038188)|digestion (GO:0007586)|feeding behavior (GO:0007631)|forebrain development (GO:0030900)|neuron migration (GO:0001764)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|response to nutrient (GO:0007584)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cholecystokinin receptor activity (GO:0004951)			NS(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|pancreas(1)|skin(1)	29		Breast(46;0.0503)			Ceruletide(DB00403)	ACAATTCCAGGAATAAGAAAG	0.378																																						ENST00000295589.3																			0				NS(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|pancreas(1)|skin(1)	29						c.(661-663)Cct>Gct		cholecystokinin A receptor	Ceruletide(DB00403)						113	117	116					4																	26484871		2203	4300	6503	SO:0001583	missense	886				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|elevation of cytosolic calcium ion concentration|response to nutrient	integral to plasma membrane	cholecystokinin receptor activity	g.chr4:26484871G>C	L19315	CCDS3438.1	4p15.2	2013-09-20			ENSG00000163394	ENSG00000163394		"GPCR / Class A : Cholecystokinin receptors"	1570	protein-coding gene	gene with protein product		118444					Standard	NM_000730		Approved		uc003gse.1	P32238	OTTHUMG00000128567	ENST00000295589.3:c.661C>G	4.37:g.26484871G>C	ENSP00000295589:p.Pro221Ala						p.P221A	NM_000730.2	NP_000721.1	P32238	CCKAR_HUMAN			4	855	-		Breast(46;0.0503)	221					B2R9Z5	Missense_Mutation	SNP	ENST00000295589.3	37	c.661C>G	CCDS3438.1	.	.	.	.	.	.	.	.	.	.	G	25.3	4.619643	0.87460	.	.	ENSG00000163394	ENST00000295589	T	0.56275	0.47	5.61	5.61	0.85477	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	D	0.84942	0.5584	H	0.98996	4.395	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.90925	0.4786	10	0.87932	D	0	.	19.6202	0.95653	0.0:0.0:1.0:0.0	.	221	P32238	CCKAR_HUMAN	A	221	ENSP00000295589:P221A	ENSP00000295589:P221A	P	-	1	0	CCKAR	26093969	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	9.460000	0.97641	2.639000	0.89480	0.557000	0.71058	CCT		0.378	CCKAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250418.2			20	115	0	0	0	1	0	20	115					C	26484871	G	C	26484871	3	2	243	1	0	0	0	0	1	0	0	0	2880	1174	41	5	633	5	CCKAR	4	26484871	Missense_Mutation	SNP	G	TCGA-HC-A6AL-01A-11D-A30E-08		26484871	164669405	12	11415											
UGDH	7358	broad.mit.edu	37	chr4	39506062	39506062	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	acatgtcccactcagtgcaaAtaacaacagcatgggcacca	15	6	7	13	0	1	0	1	0	0	0	2	0	2	0	2	1	4	3	2	1	3	1			TCGA-HC-A6AL-01A-11D-A30E-08	TCGA-HC-A6AL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	737965eb-4771-4559-b50a-0a8a12278942	093d9856-cabb-4d96-8609-b309430a7078	g.chr4:39506062A>G	ENST00000316423.6	-	10	1580	c.1238T>C	c.(1237-1239)aTt>aCt	p.I413T	UGDH_ENST00000507089.1_Missense_Mutation_p.I316T|UGDH_ENST00000501493.2_Missense_Mutation_p.I346T|UGDH_ENST00000506179.1_Missense_Mutation_p.I413T	NM_001184701.1|NM_003359.3	NP_001171630.1|NP_003350.1	O60701	UGDH_HUMAN	UDP-glucose 6-dehydrogenase	413					cellular glucuronidation (GO:0052695)|gastrulation with mouth forming second (GO:0001702)|glycosaminoglycan biosynthetic process (GO:0006024)|small molecule metabolic process (GO:0044281)|UDP-glucose metabolic process (GO:0006011)|UDP-glucuronate biosynthetic process (GO:0006065)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	electron carrier activity (GO:0009055)|NAD binding (GO:0051287)|UDP-glucose 6-dehydrogenase activity (GO:0003979)			breast(1)|central_nervous_system(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(10)|ovary(3)|skin(1)|urinary_tract(2)	27						CTCAGTGCAAATAACAACAGC	0.408																																						ENST00000316423.6																			0				breast(1)|central_nervous_system(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(10)|ovary(3)|skin(1)|urinary_tract(2)	27						c.(1237-1239)aTt>aCt		UDP-glucose 6-dehydrogenase	NADH(DB00157)						111	100	104					4																	39506062		2203	4300	6503	SO:0001583	missense	7358				glycosaminoglycan biosynthetic process|UDP-glucose metabolic process|UDP-glucuronate biosynthetic process|xenobiotic metabolic process	cytosol	electron carrier activity|NAD binding|UDP-glucose 6-dehydrogenase activity	g.chr4:39506062A>G	AF061016	CCDS3455.1, CCDS54757.1, CCDS54758.1	4p14	2011-11-16	2010-04-28		ENSG00000109814	ENSG00000109814	1.1.1.22		12525	protein-coding gene	gene with protein product		603370	"UDP-glucose dehydrogenase"			9737970, 10575217	Standard	NM_003359		Approved		uc003guk.2	O60701	OTTHUMG00000099371	ENST00000316423.6:c.1238T>C	4.37:g.39506062A>G	ENSP00000319501:p.Ile413Thr					UGDH_ENST00000501493.2_Missense_Mutation_p.I346T|UGDH_ENST00000506179.1_Missense_Mutation_p.I413T|UGDH_ENST00000507089.1_Missense_Mutation_p.I316T	p.I413T	NM_001184701.1|NM_003359.3	NP_001171630.1|NP_003350.1	O60701	UGDH_HUMAN			10	1580	-			413					B3KUU2|B4DN25|O60589	Missense_Mutation	SNP	ENST00000316423.6	37	c.1238T>C	CCDS3455.1	.	.	.	.	.	.	.	.	.	.	A	22.9	4.353455	0.82243	.	.	ENSG00000109814	ENST00000316423;ENST00000501493;ENST00000506179;ENST00000507089	T;T;T;T	0.80123	-1.34;-1.34;-1.34;-1.34	5.62	4.45	0.53987	UDP-glucose/GDP-mannose dehydrogenase, C-terminal (2);NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.90511	0.7027	M	0.92691	3.335	0.80722	D	1	D;P	0.67145	0.996;0.846	D;P	0.67548	0.952;0.792	D	0.91143	0.4947	10	0.72032	D	0.01	-9.8327	10.6433	0.45604	0.9258:0.0:0.0742:0.0	.	346;413	B3KUU2;O60701	.;UGDH_HUMAN	T	413;346;413;316	ENSP00000319501:I413T;ENSP00000422909:I346T;ENSP00000421757:I413T;ENSP00000426560:I316T	ENSP00000319501:I413T	I	-	2	0	UGDH	39182457	1.000000	0.71417	0.997000	0.53966	0.997000	0.91878	8.867000	0.92314	0.978000	0.38470	0.528000	0.53228	ATT		0.408	UGDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216818.3	NM_003359		3	28	0	0	0	1	0	3	28					G	39506062	A	G	39506062	3	3	243	1	0	0	0	0	1	0	0	0	16937	101	4	4	258	4	UGDH	4	39506062	Missense_Mutation	SNP	A	TCGA-HC-A6AL-01A-11D-A30E-08	13021191	39506062	151648214	13	11416											
FAT4	79633	broad.mit.edu	37	chr4	126336325	126336325	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acacctattgatactgttgtTttcaaagctcaagcaactga	13	13	6	9	0	2	2	2	2	0	0	2	2	2	2	1	0	4	4	1	0	5	6			TCGA-HC-A6AL-01A-11D-A30E-08	TCGA-HC-A6AL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	737965eb-4771-4559-b50a-0a8a12278942	093d9856-cabb-4d96-8609-b309430a7078	g.chr4:126336325T>C	ENST00000394329.3	+	5	6220	c.6207T>C	c.(6205-6207)gtT>gtC	p.V2069V	FAT4_ENST00000335110.5_Silent_p.V367V	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	2069	Cadherin 20. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						ATACTGTTGTTTTCAAAGCTC	0.393																																						ENST00000394329.3																			0				NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						c.(6205-6207)gtT>gtC		FAT atypical cadherin 4							142	144	143					4																	126336325		2203	4300	6503	SO:0001819	synonymous_variant	79633				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:126336325T>C	AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"Cadherins / Cadherin-related"	23109	protein-coding gene	gene with protein product	"cadherin-related family member 11"	612411	"FAT tumor suppressor homolog 4 (Drosophila)"			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.6207T>C	4.37:g.126336325T>C						FAT4_ENST00000335110.5_Silent_p.V367V	p.V2069V	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN			5	6220	+			2069			Cadherin 20.		A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Silent	SNP	ENST00000394329.3	37	c.6207T>C	CCDS3732.3																																																																																				0.393	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582		4	237	0	0	0	1	0	4	237					C	126336325	T	C	126336325	2	2	243	1	0	0	0	0	0	0	0	1	5692	1828	64	4		4	FAT4	4	126336325	Silent	SNP	T	TCGA-HC-A6AL-01A-11D-A30E-08	86830263	126336325	64817951	14	11417											
ODZ3	55714	broad.mit.edu	37	chr4	183676360	183676360	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgtttacttaccatggcaatAgtggccttttagccactaaa	11	14	7	9	0	0	0	0	0	0	0	0	0	0	0	3	2	3	2	3	2	7	7			TCGA-HC-A6AL-01A-11D-A30E-08	TCGA-HC-A6AL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	737965eb-4771-4559-b50a-0a8a12278942	093d9856-cabb-4d96-8609-b309430a7078	g.chr4:183676360A>T	ENST00000511685.1	+	22	4963	c.4840A>T	c.(4840-4842)Agt>Tgt	p.S1614C	TENM3_ENST00000502950.1_3'UTR|TENM3_ENST00000406950.2_Missense_Mutation_p.S1614C			Q9P273	TEN3_HUMAN	teneurin transmembrane protein 3	1614					camera-type eye morphogenesis (GO:0048593)|homophilic cell adhesion (GO:0007156)|positive regulation of neuron projection development (GO:0010976)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cell projection (GO:0042995)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)										CCATGGCAATAGTGGCCTTTT	0.333																																						ENST00000511685.1																			0											c.(4840-4842)Agt>Tgt		teneurin transmembrane protein 3							86	85	85					4																	183676360		1893	4133	6026	SO:0001583	missense	55714							g.chr4:183676360A>T	AF195420	CCDS47165.1	4q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000218336	ENSG00000218336			29944	protein-coding gene	gene with protein product		610083	"odz, odd Oz/ten-m homolog 3 (Drosophila)"	ODZ3		10331952, 10625539	Standard	NM_001080477		Approved	Ten-M3, KIAA1455	uc003ivd.1	Q9P273	OTTHUMG00000160682	ENST00000511685.1:c.4840A>T	4.37:g.183676360A>T	ENSP00000424226:p.Ser1614Cys					TENM3_ENST00000406950.2_Missense_Mutation_p.S1614C|TENM3_ENST00000502950.1_3'UTR	p.S1614C							22	4963	+								Q5XUL9|Q96SY2|Q9NV77|Q9NVW1|Q9NZJ2	Missense_Mutation	SNP	ENST00000511685.1	37	c.4840A>T	CCDS47165.1	.	.	.	.	.	.	.	.	.	.	A	17.88	3.497766	0.64186	.	.	ENSG00000218336	ENST00000511685;ENST00000406950	T;T	0.18657	2.2;2.2	5.28	5.28	0.74379	.	.	.	.	.	T	0.32882	0.0844	M	0.63843	1.955	0.53688	D	0.999979	D	0.58620	0.983	P	0.49561	0.615	T	0.12091	-1.0561	9	0.87932	D	0	.	15.3703	0.74557	1.0:0.0:0.0:0.0	.	1614	Q9P273	TEN3_HUMAN	C	1614	ENSP00000424226:S1614C;ENSP00000385276:S1614C	ENSP00000385276:S1614C	S	+	1	0	ODZ3	183913354	1.000000	0.71417	0.903000	0.35520	0.766000	0.43426	7.132000	0.77251	2.210000	0.71456	0.455000	0.32223	AGT		0.333	TENM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361734.1			15	34	0	0	0	1	0	15	34					T	183676360	A	T	183676360	3	4	243	1	0	0	0	0	1	0	0	0	10836	420	15	5	4922	5	ODZ3	4	183676360	Missense_Mutation	SNP	A	TCGA-HC-A6AL-01A-11D-A30E-08	57340035	183676360	7477916	15	11418											
ODZ3	55714	broad.mit.edu	37	chr4	183710344	183710344	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tttctactgaggatcgcctaCgacacgtctgggcacccgac	8	9	10	14	4	2	1	0	1	2	0	3	4	2	2	2	2	2	1	2	2	2	3			TCGA-HC-A6AL-01A-11D-A30E-08	TCGA-HC-A6AL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	737965eb-4771-4559-b50a-0a8a12278942	093d9856-cabb-4d96-8609-b309430a7078	g.chr4:183710344C>T	ENST00000511685.1	+	25	5526	c.5403C>T	c.(5401-5403)taC>taT	p.Y1801Y	TENM3_ENST00000406950.2_Silent_p.Y1801Y			Q9P273	TEN3_HUMAN	teneurin transmembrane protein 3	1801					camera-type eye morphogenesis (GO:0048593)|homophilic cell adhesion (GO:0007156)|positive regulation of neuron projection development (GO:0010976)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cell projection (GO:0042995)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)										GGATCGCCTACGACACGTCTG	0.493																																						ENST00000511685.1																			0											c.(5401-5403)taC>taT		teneurin transmembrane protein 3							44	44	44					4																	183710344		1936	4143	6079	SO:0001819	synonymous_variant	55714							g.chr4:183710344C>T	AF195420	CCDS47165.1	4q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000218336	ENSG00000218336			29944	protein-coding gene	gene with protein product		610083	"odz, odd Oz/ten-m homolog 3 (Drosophila)"	ODZ3		10331952, 10625539	Standard	NM_001080477		Approved	Ten-M3, KIAA1455	uc003ivd.1	Q9P273	OTTHUMG00000160682	ENST00000511685.1:c.5403C>T	4.37:g.183710344C>T						TENM3_ENST00000406950.2_Silent_p.Y1801Y	p.Y1801Y							25	5526	+								Q5XUL9|Q96SY2|Q9NV77|Q9NVW1|Q9NZJ2	Silent	SNP	ENST00000511685.1	37	c.5403C>T	CCDS47165.1																																																																																				0.493	TENM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361734.1			4	27	0	0	0	1	0	4	27					T	183710344	C	T	183710344	2	4	243	1	0	0	0	0	0	0	0	1	10836	547	19	1		1	ODZ3	4	183710344	Silent	SNP	C	TCGA-HC-A6AL-01A-11D-A30E-08	33984	183710344	7443932	16	11419											
HEATR7B2	133558	broad.mit.edu	37	chr5	41048475	41048475	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtgttttccataggtctacCaattttgggtgaattatctc	8	17	8	8	1	2	1	0	1	2	0	4	1	3	1	2	2	1	1	2	2	5	7			TCGA-HC-A6AL-01A-11D-A30E-08	TCGA-HC-A6AL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	737965eb-4771-4559-b50a-0a8a12278942	093d9856-cabb-4d96-8609-b309430a7078	g.chr5:41048475C>A	ENST00000399564.4	-	16	2085	c.1635G>T	c.(1633-1635)ttG>ttT	p.L545F	MROH2B_ENST00000506092.2_Missense_Mutation_p.L100F	NM_173489.4	NP_775760.3	Q7Z745	MRO2B_HUMAN	maestro heat-like repeat family member 2B	545																	ATAGGTCTACCAATTTTGGGT	0.478																																						ENST00000399564.4																			0											c.(1633-1635)ttG>ttT		maestro heat-like repeat family member 2B							144	135	138					5																	41048475		1883	4115	5998	SO:0001583	missense	133558							g.chr5:41048475C>A		CCDS47202.1	5p13.1	2012-12-19	2012-12-19	2012-12-19	ENSG00000171495	ENSG00000171495		"maestro heat-like repeat containing"	26857	protein-coding gene	gene with protein product			"HEAT repeat family member 7B2"	HEATR7B2		12477932	Standard	NM_173489		Approved	DKFZp781F0822, FLJ40243	uc003jmj.4	Q7Z745	OTTHUMG00000162151	ENST00000399564.4:c.1635G>T	5.37:g.41048475C>A	ENSP00000382476:p.Leu545Phe					MROH2B_ENST00000506092.2_Missense_Mutation_p.L100F	p.L545F	NM_173489.4	NP_775760.3					16	2085	-								Q68DM1|Q7Z4U4|Q8N7X3	Missense_Mutation	SNP	ENST00000399564.4	37	c.1635G>T	CCDS47202.1	.	.	.	.	.	.	.	.	.	.	C	18.13	3.554834	0.65425	.	.	ENSG00000171495	ENST00000506092;ENST00000296803;ENST00000399564	T;T	0.12672	2.66;2.66	4.87	1.14	0.20703	Armadillo-type fold (1);	0.370005	0.19908	N	0.103359	T	0.28928	0.0718	M	0.65498	2.005	0.35096	D	0.764797	D	0.76494	0.999	D	0.87578	0.998	T	0.30149	-0.9988	10	0.72032	D	0.01	.	6.3067	0.21143	0.0:0.5962:0.0:0.4038	.	545	Q7Z745	HTRB2_HUMAN	F	100;249;545	ENSP00000441504:L100F;ENSP00000382476:L545F	ENSP00000296803:L249F	L	-	3	2	HEATR7B2	41084232	0.208000	0.23494	0.949000	0.38748	0.952000	0.60782	0.335000	0.19806	0.353000	0.24079	0.655000	0.94253	TTG		0.478	MROH2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367558.2	NM_173489		21	58	1	0	1.22574e-08	1	1.32788e-08	21	58					A	41048475	C	A	41048475	3	1	243	1	0	0	0	0	1	0	0	0	7035	593	21	5	3230	5	HEATR7B2	5	41048475	Missense_Mutation	SNP	C	TCGA-HC-A6AL-01A-11D-A30E-08		41048475	139866785	17	11420											
PCDHA6	56142	broad.mit.edu	37	chr5	140209185	140209185	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cggcgggtgggcgagcgcgcGttgtcgagctacatttcggt	4	9	18	10	8	0	0	0	0	0	0	2	2	0	0	0	4	3	2	0	4	1	3			TCGA-HC-A6AL-01A-11D-A30E-08	TCGA-HC-A6AL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	737965eb-4771-4559-b50a-0a8a12278942	093d9856-cabb-4d96-8609-b309430a7078	g.chr5:140209185G>A	ENST00000529310.1	+	1	1623	c.1509G>A	c.(1507-1509)gcG>gcA	p.A503A	PCDHA6_ENST00000527624.1_Silent_p.A503A|PCDHA3_ENST00000522353.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000504120.2_Intron	NM_018909.2|NM_031848.2|NM_031849.1	NP_061732.1|NP_114036.1|NP_114037.1	Q9UN73	PCDA6_HUMAN	protocadherin alpha 6	503	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	89			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCGAGCGCGCGTTGTCGAGCT	0.672																																						ENST00000529310.1																			0				NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						c.(1507-1509)gcG>gcA									53	59	57					5																	140209185		2203	4299	6502	SO:0001819	synonymous_variant	0							g.chr5:140209185G>A	AF152484	CCDS47281.1, CCDS47282.1	5q31	2010-11-26			ENSG00000081842	ENSG00000081842		"Cadherins / Protocadherins : Clustered"	8672	other	complex locus constituent	"KIAA0345-like 8"	606312		CNRS2		10380929, 10662547	Standard	NM_018909		Approved	CNR2, CRNR2, PCDH-ALPHA6		Q9UN73	OTTHUMG00000163353	ENST00000529310.1:c.1509G>A	5.37:g.140209185G>A						PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000527624.1_Silent_p.A503A|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron	p.A503A	NM_018909.2|NM_031848.1|NM_031849.1	NP_061732.1|NP_114036.1|NP_114037.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1623	+								O75283|Q9NRT8	Silent	SNP	ENST00000529310.1	37	c.1509G>A	CCDS47281.1																																																																																				0.672	PCDHA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372829.3	NM_018909		24	125	0	0	0	1	0	24	125					A	140209185	G	A	140209185	2	1	243	1	0	0	0	0	0	0	0	1	11528	1132	40	1		1	PCDHA6	5	140209185	Silent	SNP	G	TCGA-HC-A6AL-01A-11D-A30E-08	99160710	140209185	40706075	18	11421											
KIAA0415	9907	broad.mit.edu	37	chr7	4824597	4824597	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atctccgccacctcctctgcCggccgcctgctgccgccccg	2	7	9	23	5	2	0	0	0	2	0	4	0	3	0	10	1	3	1	10	1	0	0	rs572271008	byFrequency	TCGA-HC-A6AL-01A-11D-A30E-08	TCGA-HC-A6AL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	737965eb-4771-4559-b50a-0a8a12278942	093d9856-cabb-4d96-8609-b309430a7078	g.chr7:4824597C>T	ENST00000348624.4	+	7	943	c.849C>T	c.(847-849)gcC>gcT	p.A283A	AP5Z1_ENST00000401897.1_Silent_p.A283A	NM_014855.2	NP_055670.1	O43299	AP5Z1_HUMAN	adaptor-related protein complex 5, zeta 1 subunit	283					cell death (GO:0008219)|double-strand break repair via homologous recombination (GO:0000724)|endosomal transport (GO:0016197)|protein transport (GO:0015031)	AP-5 adaptor complex (GO:0044599)|AP-type membrane coat adaptor complex (GO:0030119)|cytoplasm (GO:0005737)|nucleus (GO:0005634)											CCTCCTCTGCCGGCCGCCTGC	0.667													C|||	2	0.000399361	0	0.0029	5008	,	,		14172	0		0	False		,,,				2504	0					ENST00000348624.4																			0											c.(847-849)gcC>gcT		adaptor-related protein complex 5, zeta 1 subunit							14	17	16					7																	4824597		1938	4117	6055	SO:0001819	synonymous_variant	9907				cell death|double-strand break repair via homologous recombination	cytoplasm|nucleus	protein binding	g.chr7:4824597C>T	AB007875	CCDS47528.1	7p22.1	2012-03-20	2012-03-20	2012-03-20	ENSG00000242802	ENSG00000242802			22197	protein-coding gene	gene with protein product		613653	"KIAA0415"	KIAA0415		20613862, 22022230	Standard	NM_014855		Approved	SPG48, zeta	uc003sne.3	O43299	OTTHUMG00000151754	ENST00000348624.4:c.849C>T	7.37:g.4824597C>T						AP5Z1_ENST00000401897.1_Silent_p.A283A	p.A283A	NM_014855.2	NP_055670.1	O43299	K0415_HUMAN			7	943	+			283					Q8N3X2|Q96H80	Silent	SNP	ENST00000348624.4	37	c.849C>T	CCDS47528.1																																																																																				0.667	AP5Z1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323771.1			9	30	0	0	0	1	0	9	30					T	4824597	C	T	4824597	2	4	243	1	0	0	0	0	0	0	0	1	8175	639	23	2		2	KIAA0415	7	4824597	Silent	SNP	C	TCGA-HC-A6AL-01A-11D-A30E-08		4824597	154314066	19	11422											
VPS41	27072	broad.mit.edu	37	chr7	38807200	38807200	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tatatgccaagccaatatccTagagaaagccaaatgaagaa	19	7	7	8	0	0	3	0	1	0	2	1	4	1	3	4	0	3	0	4	0	10	4			TCGA-HC-A6AL-01A-11D-A30E-08	TCGA-HC-A6AL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	737965eb-4771-4559-b50a-0a8a12278942	093d9856-cabb-4d96-8609-b309430a7078	g.chr7:38807200T>C	ENST00000310301.4	-	15	1240		c.e15-2		VPS41_ENST00000395969.2_Splice_Site	NM_014396.3	NP_055211.2	P49754	VPS41_HUMAN	vacuolar protein sorting 41 homolog (S. cerevisiae)						Golgi vesicle transport (GO:0048193)|intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	cytosol (GO:0005829)|early endosome (GO:0005769)|Golgi-associated vesicle (GO:0005798)|HOPS complex (GO:0030897)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)	zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(5)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	44						GCCAATATCCTAGAGAAAGCC	0.368																																						ENST00000310301.4																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(5)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	44						c.e15-2		vacuolar protein sorting 41 homolog (S. cerevisiae)							74	70	71					7																	38807200		2203	4300	6503	SO:0001630	splice_region_variant	27072				Golgi vesicle transport|intracellular protein transport|vesicle-mediated transport	cytosol|Golgi-associated vesicle|HOPS complex|membrane fraction	zinc ion binding	g.chr7:38807200T>C	U87309	CCDS5457.1, CCDS5458.2	7p14.1-p13	2009-05-08	2006-12-19		ENSG00000006715	ENSG00000006715			12713	protein-coding gene	gene with protein product		605485	"vacuolar protein sorting 41 (yeast homolog)", "vacuolar protein sorting 41 (yeast)"			9159129	Standard	NM_080631		Approved	HVSP41	uc003tgy.3	P49754	OTTHUMG00000023629	ENST00000310301.4:c.1186-2A>G	7.37:g.38807200T>C						VPS41_ENST00000395969.2_Splice_Site		NM_014396.3	NP_055211.2	P49754	VPS41_HUMAN			15	1240	-								E9PF36|Q86TP8|Q99851|Q99852	Splice_Site	SNP	ENST00000310301.4	37		CCDS5457.1	.	.	.	.	.	.	.	.	.	.	T	21.3	4.127415	0.77549	.	.	ENSG00000006715	ENST00000310301;ENST00000395969	.	.	.	5.51	5.51	0.81932	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.6156	0.76764	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	VPS41	38773725	1.000000	0.71417	0.994000	0.49952	0.866000	0.49608	7.129000	0.77225	2.094000	0.63399	0.460000	0.39030	.		0.368	VPS41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226986.3		Intron	9	58	0	0	0	1	0	9	58					C	38807200	T	C	38807200	5	2	243	1	0	0	0	0	0	0	1	0	17207	1536	53	4	1440	4	VPS41	7	38807200	Splice_Site	SNP	T	TCGA-HC-A6AL-01A-11D-A30E-08	33982603	38807200	120331463	20	11423											
POM121	9883	broad.mit.edu	37	chr7	72400574	72400574	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atgagctccttgacaggcgcTtacgcaagtggcatccctag	9	9	11	12	2	0	2	0	2	0	0	2	2	2	2	2	2	2	4	2	2	3	3			TCGA-HC-A6AL-01A-11D-A30E-08	TCGA-HC-A6AL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	737965eb-4771-4559-b50a-0a8a12278942	093d9856-cabb-4d96-8609-b309430a7078	g.chr7:72400574T>G	ENST00000434423.2	+	5	1200	c.1200T>G	c.(1198-1200)gcT>gcG	p.A400A	POM121_ENST00000395270.1_Silent_p.A135A|POM121_ENST00000446813.1_Silent_p.A135A|POM121_ENST00000257622.4_Silent_p.A135A|POM121_ENST00000358357.3_Silent_p.A135A			Q96HA1	P121A_HUMAN	POM121 transmembrane nucleoporin	400	Pore side. {ECO:0000255}.|Ser-rich.				carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	endoplasmic reticulum (GO:0005783)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)				NS(1)|breast(1)|endometrium(9)|kidney(4)|large_intestine(6)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Lung NSC(55;0.163)				TGACAGGCGCTTACGCAAGTG	0.512																																						ENST00000395270.1																			0				NS(1)|breast(1)|endometrium(9)|kidney(4)|large_intestine(6)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						c.(403-405)gcT>gcG		POM121 transmembrane nucleoporin							193	200	197					7																	72400574		2203	4300	6503	SO:0001819	synonymous_variant	9883				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore		g.chr7:72400574T>G	AB014518	CCDS5542.1, CCDS59059.1	7q11.23	2013-01-08	2012-03-13		ENSG00000196313	ENSG00000196313		"-"	19702	protein-coding gene	gene with protein product		615753	"POM121 membrane glycoprotein (rat)", "POM121 membrane glycoprotein"			8335683, 9734811, 17900573	Standard	NM_172020		Approved	KIAA0618, DKFZP586G1822, DKFZP586P2220, POM121A	uc003twk.2	Q96HA1	OTTHUMG00000023527	ENST00000434423.2:c.1200T>G	7.37:g.72400574T>G						POM121_ENST00000446813.1_Silent_p.A135A|POM121_ENST00000257622.4_Silent_p.A135A|POM121_ENST00000358357.3_Silent_p.A135A|POM121_ENST00000434423.2_Silent_p.A400A	p.A135A	NM_001257190.1	NP_001244119.1	Q96HA1	P121A_HUMAN			8	1446	+		Lung NSC(55;0.163)	400			Pore side (Potential).|Required for targeting to the nucleus and nuclear pore complex.		A6NFS9|A8CDT4|A8K933|A8MXF9|O75115|Q96DI0|Q9H9X1|Q9Y2N3|Q9Y4S7	Silent	SNP	ENST00000434423.2	37	c.405T>G																																																																																					0.512	POM121-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000347344.1			68	237	0	0	0	1	0	68	237					G	72400574	T	G	72400574	2	3	243	1	0	0	0	0	0	0	0	1	12239	1596	56	5		5	POM121	7	72400574	Silent	SNP	T	TCGA-HC-A6AL-01A-11D-A30E-08	33593374	72400574	86738089	21	11424											
SAMD9L	219285	broad.mit.edu	37	chr7	92763568	92763568	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acacaacatattttccattcCtttgagagcttgatagaaag	14	13	6	8	0	0	3	0	2	0	2	2	4	2	3	2	0	2	1	2	0	4	7			TCGA-HC-A6AL-01A-11D-A30E-08	TCGA-HC-A6AL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	737965eb-4771-4559-b50a-0a8a12278942	093d9856-cabb-4d96-8609-b309430a7078	g.chr7:92763568C>T	ENST00000318238.4	-	5	2933	c.1717G>A	c.(1717-1719)Gga>Aga	p.G573R	SAMD9L_ENST00000437805.1_Missense_Mutation_p.G573R|SAMD9L_ENST00000411955.1_Missense_Mutation_p.G573R	NM_152703.2	NP_689916.2	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like	573					common myeloid progenitor cell proliferation (GO:0035726)|endosomal vesicle fusion (GO:0034058)|hematopoietic progenitor cell differentiation (GO:0002244)|regulation of protein catabolic process (GO:0042176)|spleen development (GO:0048536)|stem cell division (GO:0017145)	early endosome (GO:0005769)				central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			TTTTCCATTCCTTTGAGAGCT	0.353																																						ENST00000318238.4																			0				central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88						c.(1717-1719)Gga>Aga		sterile alpha motif domain containing 9-like							55	55	55					7																	92763568		2202	4298	6500	SO:0001583	missense	219285							g.chr7:92763568C>T	AB095926	CCDS34681.1	7q21.2	2013-01-10		2005-04-26	ENSG00000177409	ENSG00000177409		"Sterile alpha motif (SAM) domain containing"	1349	protein-coding gene	gene with protein product		611170	"chromosome 7 open reading frame 6"	C7orf6			Standard	NM_152703		Approved	KIAA2005, FLJ39885	uc003umh.1	Q8IVG5	OTTHUMG00000155807	ENST00000318238.4:c.1717G>A	7.37:g.92763568C>T	ENSP00000326247:p.Gly573Arg					SAMD9L_ENST00000437805.1_Missense_Mutation_p.G573R|SAMD9L_ENST00000411955.1_Missense_Mutation_p.G573R	p.G573R	NM_152703.2	NP_689916.2	Q8IVG5	SAM9L_HUMAN	STAD - Stomach adenocarcinoma(171;0.000302)		5	2933	-	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		573					A0JP23|A0JP24|A0PJG8|A4D1G8|D6W5Q6|Q2TV71|Q2TV75|Q2UZV8|Q8IWI4|Q8N3L9|Q8N875	Missense_Mutation	SNP	ENST00000318238.4	37	c.1717G>A	CCDS34681.1	.	.	.	.	.	.	.	.	.	.	C	18.78	3.696841	0.68386	.	.	ENSG00000177409	ENST00000318238;ENST00000411955;ENST00000437805	T;T;T	0.18502	2.21;2.21;2.21	4.75	4.75	0.60458	.	0.000000	0.64402	D	0.000003	T	0.42040	0.1185	M	0.66939	2.045	0.52099	D	0.999949	D	0.89917	1.0	D	0.91635	0.999	T	0.36040	-0.9764	10	0.87932	D	0	-18.3469	17.5192	0.87782	0.0:1.0:0.0:0.0	.	573	Q8IVG5	SAM9L_HUMAN	R	573	ENSP00000326247:G573R;ENSP00000405760:G573R;ENSP00000408796:G573R	ENSP00000326247:G573R	G	-	1	0	SAMD9L	92601504	1.000000	0.71417	1.000000	0.80357	0.915000	0.54546	5.798000	0.69095	2.466000	0.83321	0.467000	0.42956	GGA		0.353	SAMD9L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341730.1	NM_152703		17	51	0	0	0	1	0	17	51					T	92763568	C	T	92763568	3	4	243	1	0	0	0	0	1	0	0	0	13827	690	24	3	3041	3	SAMD9L	7	92763568	Missense_Mutation	SNP	C	TCGA-HC-A6AL-01A-11D-A30E-08	20362994	92763568	66375095	22	11425											
LMTK2	22853	broad.mit.edu	37	chr7	97784178	97784178	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atacttttttgaaaaatggaGaaccttactagtaagtaaac	17	13	6	5	0	0	2	0	1	0	1	0	3	0	2	1	1	4	2	1	1	9	8			TCGA-HC-A6AL-01A-11D-A30E-08	TCGA-HC-A6AL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	737965eb-4771-4559-b50a-0a8a12278942	093d9856-cabb-4d96-8609-b309430a7078	g.chr7:97784178G>A	ENST00000297293.5	+	5	852	c.559G>A	c.(559-561)Gaa>Aaa	p.E187K		NM_014916.3	NP_055731.2	Q8IWU2	LMTK2_HUMAN	lemur tyrosine kinase 2	187	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				early endosome to late endosome transport (GO:0045022)|endocytic recycling (GO:0032456)|negative regulation of catalytic activity (GO:0043086)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|receptor recycling (GO:0001881)|transferrin transport (GO:0033572)	early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)	ATP binding (GO:0005524)|myosin VI binding (GO:0070853)|protein phosphatase inhibitor activity (GO:0004864)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3)	59	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)					GAAAAATGGAGAACCTTACTA	0.418																																						ENST00000297293.5																			0				NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3)	59						c.(559-561)Gaa>Aaa		lemur tyrosine kinase 2							123	116	119					7																	97784178		2203	4300	6503	SO:0001583	missense	22853				early endosome to late endosome transport|endocytic recycling|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation|receptor recycling|transferrin transport	early endosome|Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|recycling endosome	ATP binding|myosin VI binding|protein phosphatase inhibitor activity|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr7:97784178G>A	AB029002	CCDS5654.1	7q22.1	2014-06-12			ENSG00000164715	ENSG00000164715			17880	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 100"	610989				15005709	Standard	NM_014916		Approved	KIAA1079, KPI2, KPI-2, cprk, LMR2, BREK, AATYK2, PPP1R100	uc003upd.2	Q8IWU2	OTTHUMG00000154256	ENST00000297293.5:c.559G>A	7.37:g.97784178G>A	ENSP00000297293:p.Glu187Lys						p.E187K	NM_014916.3	NP_055731.2	Q8IWU2	LMTK2_HUMAN			5	852	+	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)		187			Protein kinase.		A4D272|Q75MG7|Q9UPS3	Missense_Mutation	SNP	ENST00000297293.5	37	c.559G>A	CCDS5654.1	.	.	.	.	.	.	.	.	.	.	G	26.5	4.743059	0.89663	.	.	ENSG00000164715	ENST00000297293	D	0.81996	-1.56	5.31	5.31	0.75309	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.049196	0.85682	D	0.000000	T	0.74997	0.3790	N	0.16790	0.44	0.54753	D	0.999981	P	0.45768	0.866	B	0.42959	0.403	T	0.79711	-0.1689	10	0.62326	D	0.03	.	16.4706	0.84111	0.0:0.0:1.0:0.0	.	187	Q8IWU2	LMTK2_HUMAN	K	187	ENSP00000297293:E187K	ENSP00000297293:E187K	E	+	1	0	LMTK2	97622114	1.000000	0.71417	1.000000	0.80357	0.890000	0.51754	5.458000	0.66679	2.456000	0.83038	0.467000	0.42956	GAA		0.418	LMTK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334560.1	NM_014916		19	162	0	0	0	1	0	19	162					A	97784178	G	A	97784178	3	1	243	1	0	0	0	0	1	0	0	0	8859	943	33	3	577	3	LMTK2	7	97784178	Missense_Mutation	SNP	G	TCGA-HC-A6AL-01A-11D-A30E-08	5020610	97784178	61354485	23	11426											
KRBA1	84626	broad.mit.edu	37	chr7	149430771	149430771	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tctccagagggaccgctcgcCgggcacgtccgctgcctcca	5	6	12	18	5	1	1	0	0	1	1	5	2	3	2	6	2	1	3	6	2	0	0			TCGA-HC-A6AL-01A-11D-A30E-08	TCGA-HC-A6AL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	737965eb-4771-4559-b50a-0a8a12278942	093d9856-cabb-4d96-8609-b309430a7078	g.chr7:149430771C>T	ENST00000485033.2	+	15	2545	c.2545C>T	c.(2545-2547)Cgg>Tgg	p.R849W	KRBA1_ENST00000255992.10_Missense_Mutation_p.R909W|KRBA1_ENST00000479560.1_3'UTR|KRBA1_ENST00000319551.8_Missense_Mutation_p.R849W			A5PL33	KRBA1_HUMAN	KRAB-A domain containing 1	910										breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(17)|ovary(1)|prostate(1)	27	Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			GACCGCTCGCCGGGCACGTCC	0.662																																						ENST00000255992.10																			0				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(17)|ovary(1)|prostate(1)	27						c.(2725-2727)Cgg>Tgg		KRAB-A domain containing 1							11	14	13					7																	149430771		2159	4255	6414	SO:0001583	missense	84626							g.chr7:149430771C>T	AB058765	CCDS75674.1	7q36	2014-02-12	2006-08-15		ENSG00000133619	ENSG00000133619		"-"	22228	protein-coding gene	gene with protein product			"KRAB A domain containing 1"				Standard	NM_001290187		Approved	KIAA1862	uc003wfz.3	A5PL33	OTTHUMG00000157886	ENST00000485033.2:c.2545C>T	7.37:g.149430771C>T	ENSP00000420112:p.Arg849Trp					KRBA1_ENST00000319551.8_Missense_Mutation_p.R849W|KRBA1_ENST00000485033.2_Missense_Mutation_p.R849W|KRBA1_ENST00000479560.1_3'UTR	p.R909W	NM_032534.2	NP_115923.2	A5PL33	KRBA1_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00625)		18	3124	+	Melanoma(164;0.165)|Ovarian(565;0.177)		910					A7E2F5|E7ENE9|Q8N4X0|Q96JG5	Missense_Mutation	SNP	ENST00000485033.2	37	c.2725C>T		.	.	.	.	.	.	.	.	.	.	C	15.72	2.916343	0.52546	.	.	ENSG00000133619	ENST00000255992;ENST00000319551;ENST00000485033	T;T;T	0.31510	1.49;1.49;1.49	4.67	1.11	0.20524	.	1.630830	0.03993	N	0.295247	T	0.30541	0.0768	.	.	.	0.09310	N	1	D;D	0.63880	0.993;0.993	B;P	0.46975	0.431;0.533	T	0.17018	-1.0383	9	0.59425	D	0.04	0.9358	3.2514	0.06815	0.1821:0.5487:0.1574:0.1118	.	849;910	E7ENE9;A5PL33	.;KRBA1_HUMAN	W	909;849;849	ENSP00000255992:R909W;ENSP00000317165:R849W;ENSP00000420112:R849W	ENSP00000255992:R909W	R	+	1	2	KRBA1	149061704	0.001000	0.12720	0.000000	0.03702	0.003000	0.03518	0.965000	0.29319	0.366000	0.24427	0.609000	0.83330	CGG		0.662	KRBA1-004	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000349841.3	NM_032534		3	7	0	0	0	1	0	3	7					T	149430771	C	T	149430771	3	4	243	1	0	0	0	0	1	0	0	0	8439	643	23	2	2789	2	KRBA1	7	149430771	Missense_Mutation	SNP	C	TCGA-HC-A6AL-01A-11D-A30E-08	51646593	149430771	9707892	24	11427											
MLL3	58508	broad.mit.edu	37	chr7	151970809	151970809	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catctttcaggagcttggtcAatgtgttctggacaaagcag	10	12	11	8	0	4	0	2	0	2	0	4	2	4	2	0	3	2	3	0	3	2	3			TCGA-HC-A6AL-01A-11D-A30E-08	TCGA-HC-A6AL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	737965eb-4771-4559-b50a-0a8a12278942	093d9856-cabb-4d96-8609-b309430a7078	g.chr7:151970809A>T	ENST00000262189.6	-	7	1211	c.993T>A	c.(991-993)atT>atA	p.I331I	KMT2C_ENST00000355193.2_Silent_p.I331I	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	331					histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										GAGCTTGGTCAATGTGTTCTG	0.393																																						ENST00000355193.2																			0											c.(991-993)atT>atA		lysine (K)-specific methyltransferase 2C							240	224	229					7																	151970809		2203	4300	6503	SO:0001819	synonymous_variant	58508							g.chr7:151970809A>T	AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	13726	protein-coding gene	gene with protein product		606833	"myeloid/lymphoid or mixed-lineage leukemia 3"	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.993T>A	7.37:g.151970809A>T						KMT2C_ENST00000262189.6_Silent_p.I331I	p.I331I							7	1211	-								Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Silent	SNP	ENST00000262189.6	37	c.993T>A	CCDS5931.1																																																																																				0.393	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3			9	320	0	0	0	1	0	9	320					T	151970809	A	T	151970809	2	4	243	1	0	0	0	0	0	0	0	1	9622	126	5	5		5	MLL3	7	151970809	Silent	SNP	A	TCGA-HC-A6AL-01A-11D-A30E-08	2540038	151970809	7167854	25	11428											
PLAA	9373	broad.mit.edu	37	chr9	26905927	26905927	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaaagtcctgagagcaagcAgctggtttgctggctttcct	10	11	11	9	0	0	1	0	1	0	1	2	2	2	1	2	2	4	6	2	2	3	2			TCGA-HC-A6AL-01A-11D-A30E-08	TCGA-HC-A6AL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	737965eb-4771-4559-b50a-0a8a12278942	093d9856-cabb-4d96-8609-b309430a7078	g.chr9:26905927A>G	ENST00000397292.3	-	14	2387	c.1970T>C	c.(1969-1971)cTg>cCg	p.L657P		NM_001031689.2	NP_001026859.1	Q9Y263	PLAP_HUMAN	phospholipase A2-activating protein	657	PUL. {ECO:0000255|PROSITE- ProRule:PRU00729}.				inflammatory response (GO:0006954)|phospholipid metabolic process (GO:0006644)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)	phospholipase A2 activator activity (GO:0016005)			breast(1)|endometrium(7)|kidney(2)|large_intestine(3)|lung(3)|prostate(1)	17		all_neural(3;3.53e-10)|Glioma(3;2.71e-09)		Lung(218;1.32e-05)|LUSC - Lung squamous cell carcinoma(38;0.00011)		GAGAGCAAGCAGCTGGTTTGC	0.458																																					Melanoma(175;2670 2735 14091 35526)	ENST00000397292.3																			0				breast(1)|endometrium(7)|kidney(2)|large_intestine(3)|lung(3)|prostate(1)	17						c.(1969-1971)cTg>cCg		phospholipase A2-activating protein							67	68	68					9																	26905927		2203	4300	6503	SO:0001583	missense	9373				phospholipid metabolic process|signal transduction		phospholipase A2 activator activity	g.chr9:26905927A>G	AF083395	CCDS35000.1	9p21	2013-01-10			ENSG00000137055	ENSG00000137055		"WD repeat domain containing"	9043	protein-coding gene	gene with protein product	"DOA1 homolog (S. cerevisiae)"	603873				9931468, 10644453	Standard	NM_001031689		Approved	PLAP, PLA2P, FLJ11281, FLJ12699, DOA1	uc003zqd.3	Q9Y263	OTTHUMG00000019708	ENST00000397292.3:c.1970T>C	9.37:g.26905927A>G	ENSP00000380460:p.Leu657Pro						p.L657P	NM_001031689.2	NP_001026859.1	Q9Y263	PLAP_HUMAN		Lung(218;1.32e-05)|LUSC - Lung squamous cell carcinoma(38;0.00011)	14	2387	-		all_neural(3;3.53e-10)|Glioma(3;2.71e-09)	657			PUL.		Q53EU5|Q5VY33|Q9NUL8|Q9NVE9|Q9UF53|Q9Y5L1	Missense_Mutation	SNP	ENST00000397292.3	37	c.1970T>C	CCDS35000.1	.	.	.	.	.	.	.	.	.	.	A	19.68	3.873401	0.72180	.	.	ENSG00000137055	ENST00000397292	T	0.51071	0.72	6.07	6.07	0.98685	PUL (2);	0.163302	0.53938	D	0.000047	T	0.66655	0.2811	L	0.59436	1.845	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.68712	-0.5336	10	0.87932	D	0	-6.0542	16.6406	0.85098	1.0:0.0:0.0:0.0	.	657	Q9Y263	PLAP_HUMAN	P	657	ENSP00000380460:L657P	ENSP00000380460:L657P	L	-	2	0	PLAA	26895927	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.718000	0.91430	2.326000	0.78906	0.533000	0.62120	CTG		0.458	PLAA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051958.2	NM_001031689		27	56	0	0	0	1	0	27	56					G	26905927	A	G	26905927	3	3	243	1	0	0	0	0	1	0	0	0	12011	188	7	4	421	4	PLAA	9	26905927	Missense_Mutation	SNP	A	TCGA-HC-A6AL-01A-11D-A30E-08		26905927	114307504	26	11429											
IPPK	64768	broad.mit.edu	37	chr9	95403027	95403027	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gttgttctgtgcctcctgcaGcaaactcttcaaggcaaagt	9	12	9	11	0	3	0	1	0	2	0	4	0	4	0	2	1	4	5	2	1	3	3			TCGA-HC-A6AL-01A-11D-A30E-08	TCGA-HC-A6AL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	737965eb-4771-4559-b50a-0a8a12278942	093d9856-cabb-4d96-8609-b309430a7078	g.chr9:95403027G>A	ENST00000287996.3	-	8	877	c.601C>T	c.(601-603)Ctg>Ttg	p.L201L	IPPK_ENST00000375522.1_5'Flank	NM_022755.5	NP_073592.1	Q9H8X2	IPPK_HUMAN	inositol 1,3,4,5,6-pentakisphosphate 2-kinase	201					inositol phosphate metabolic process (GO:0043647)|inositol phosphorylation (GO:0052746)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|intracellular (GO:0005622)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|inositol pentakisphosphate 2-kinase activity (GO:0035299)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(2)|urinary_tract(1)	15						GCCTCCTGCAGCAAACTCTTC	0.448																																						ENST00000287996.3																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(2)|urinary_tract(1)	15						c.(601-603)Ctg>Ttg		inositol 1,3,4,5,6-pentakisphosphate 2-kinase							157	151	153					9																	95403027		2203	4300	6503	SO:0001819	synonymous_variant	64768				inositol or phosphatidylinositol phosphorylation	cytoplasm|nucleus	ATP binding|inositol pentakisphosphate 2-kinase activity	g.chr9:95403027G>A	AK023225	CCDS6699.1	9q22.31	2010-12-02	2005-10-20	2005-10-20	ENSG00000127080	ENSG00000127080			14645	protein-coding gene	gene with protein product			"chromosome 9 open reading frame 12"	C9orf12		12084730	Standard	NM_022755		Approved	INSP5K2, FLJ13163, IP5K, IPK1	uc004asl.1	Q9H8X2	OTTHUMG00000020231	ENST00000287996.3:c.601C>T	9.37:g.95403027G>A							p.L201L	NM_022755.5	NP_073592.1	Q9H8X2	IPPK_HUMAN			8	877	-			201					Q5T9F7|Q9H7V8	Silent	SNP	ENST00000287996.3	37	c.601C>T	CCDS6699.1																																																																																				0.448	IPPK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053101.1	NM_022755		4	128	0	0	0	1	0	4	128					A	95403027	G	A	95403027	2	1	243	1	0	0	0	0	0	0	0	1	7801	962	34	3		3	IPPK	9	95403027	Silent	SNP	G	TCGA-HC-A6AL-01A-11D-A30E-08	68497100	95403027	45810404	27	11430											
PTEN	5728	broad.mit.edu	37	chr10	89692968	89692968	+	Frame_Shift_Del	DEL	C	C	-																															atttttaaaggcacaagaggCcctagatttctatggggaag																										TCGA-HC-A6AL-01A-11D-A30E-08	TCGA-HC-A6AL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	737965eb-4771-4559-b50a-0a8a12278942	093d9856-cabb-4d96-8609-b309430a7078	g.chr10:89692968delC	ENST00000371953.3	+	5	1809	c.452delC	c.(451-453)gccfs	p.A151fs		NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	151	Phosphatase tensin-type. {ECO:0000255|PROSITE-ProRule:PRU00590}.				activation of mitotic anaphase-promoting complex activity (GO:0007092)|aging (GO:0007568)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|brain morphogenesis (GO:0048854)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle tissue development (GO:0048738)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|central nervous system myelin maintenance (GO:0032286)|central nervous system neuron axonogenesis (GO:0021955)|dendritic spine morphogenesis (GO:0060997)|dentate gyrus development (GO:0021542)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|innate immune response (GO:0045087)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|learning or memory (GO:0007611)|locomotor rhythm (GO:0045475)|locomotory behavior (GO:0007626)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|male mating behavior (GO:0060179)|maternal behavior (GO:0042711)|memory (GO:0007613)|multicellular organismal response to stress (GO:0033555)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell aging (GO:0090344)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031658)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myelination (GO:0031642)|negative regulation of organ growth (GO:0046621)|negative regulation of phagocytosis (GO:0050765)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of ribosome biogenesis (GO:0090071)|negative regulation of synaptic vesicle clustering (GO:2000808)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell proliferation (GO:0008284)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|postsynaptic density assembly (GO:0097107)|prepulse inhibition (GO:0060134)|presynaptic membrane assembly (GO:0097105)|prostate gland growth (GO:0060736)|protein dephosphorylation (GO:0006470)|protein kinase B signaling (GO:0043491)|protein stabilization (GO:0050821)|regulation of B cell apoptotic process (GO:0002902)|regulation of cellular component size (GO:0032535)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of neuron projection development (GO:0010975)|regulation of protein stability (GO:0031647)|response to arsenic-containing substance (GO:0046685)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse maturation (GO:0060074)|T cell receptor signaling pathway (GO:0050852)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|myelin sheath adaxonal region (GO:0035749)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)	anaphase-promoting complex binding (GO:0010997)|enzyme binding (GO:0019899)|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity (GO:0051717)|lipid binding (GO:0008289)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity (GO:0051800)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.0?(37)|p.?(5)|p.R55fs*1(5)|p.Y27fs*1(2)|p.A151D(1)|p.F56fs*2(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		GCACAAGAGGCCCTAGATTTC	0.378		31	"D, Mis, N, F, S"		"glioma,  prostate, endometrial"	"harmartoma, glioma,  prostate, endometrial"			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																												ENST00000371953.3		31	yes	Rec	yes	"Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"	10	10q23.3	5728	"D, Mis, N, F, S"	phosphatase and tensin homolog gene			"L, E, M, O"		"harmartoma, glioma,  prostate, endometrial"	"glioma,  prostate, endometrial"		51	Whole gene deletion(37)|Deletion - Frameshift(8)|Unknown(5)|Substitution - Missense(1)	p.0?(37)|p.?(5)|p.R55fs*1(5)|p.Y27fs*1(2)|p.A151D(1)|p.F56fs*2(1)	prostate(16)|central_nervous_system(11)|skin(6)|lung(5)|haematopoietic_and_lymphoid_tissue(4)|breast(3)|ovary(3)|thyroid(1)|soft_tissue(1)|urinary_tract(1)	NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771						c.(451-453)gcfs		phosphatase and tensin homolog							63	65	64					10																	89692968		2203	4298	6501	SO:0001589	frameshift_variant	5728	Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	Familial Cancer Database	Incl.: Encephalocraniocutaneous Lipomatosis, ECCL, Proteus-like s.;incl.: Juvenile Polyposis of the Stomach;HMPS1, Colorectal Adenoma Carcinoma syndrome, CRAC, CRAC1;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;subset of PTEN-Hamartoma Tumor Syndrome; incl.: Ruvalcaba-Myhre-Smith s.	activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr10:89692968delC	U92436	CCDS31238.1	10q23	2014-09-17	2008-07-31		ENSG00000171862	ENSG00000171862		"Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"	9588	protein-coding gene	gene with protein product	"mutated in multiple advanced cancers 1"	601728		BZS, MHAM		9090379	Standard	NM_000314		Approved	MMAC1, TEP1, PTEN1	uc001kfb.3	P60484	OTTHUMG00000018688	ENST00000371953.3:c.452delC	10.37:g.89692968delC	ENSP00000361021:p.Ala151fs	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)					p.A151fs	NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)	5	1809	+		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	151			Phosphatase tensin-type.		B2R904|F2YHV0|O00633|O02679|Q6ICT7	Frame_Shift_Del	DEL	ENST00000371953.3	37	c.452delC	CCDS31238.1																																																																																				0.378	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1	NM_000314		11	75						11	75	---	---	---	---	-	89692968	C	-	89692968	7	5	243	1	0	1	0	1	0	0	0	0	12738	739	26	0	470	0	PTEN	10	89692968	Frame_Shift_Del	DEL	C	TCGA-HC-A6AL-01A-11D-A30E-08		89692968	45841779	28	11431											
OR4C6	219432	broad.mit.edu	37	chr11	55433371	55433371	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acctgcagctcccacctcacGgtggttgtattgttctttgt	5	15	9	12	1	2	0	1	0	1	0	3	0	3	0	3	2	2	5	3	2	1	5	rs528437339	byFrequency	TCGA-HC-A6AL-01A-11D-A30E-08	TCGA-HC-A6AL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	737965eb-4771-4559-b50a-0a8a12278942	093d9856-cabb-4d96-8609-b309430a7078	g.chr11:55433371G>T	ENST00000314259.3	+	1	758	c.729G>T	c.(727-729)acG>acT	p.T243T		NM_001004704.1	NP_001004704.1	Q8NH72	OR4C6_HUMAN	olfactory receptor, family 4, subfamily C, member 6	243						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|lung(49)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	71						CCCACCTCACGGTGGTTGTAT	0.493																																						ENST00000314259.3																			0				breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|lung(49)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	71						c.(727-729)acG>acT		olfactory receptor, family 4, subfamily C, member 6							119	118	118					11																	55433371		2200	4296	6496	SO:0001819	synonymous_variant	219432				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55433371G>T	CR593785	CCDS31506.1	11q11	2012-08-09			ENSG00000181903	ENSG00000181903		"GPCR / Class A : Olfactory receptors"	14743	protein-coding gene	gene with protein product							Standard	NM_001004704		Approved		uc010rik.2	Q8NH72	OTTHUMG00000166800	ENST00000314259.3:c.729G>T	11.37:g.55433371G>T							p.T243T	NM_001004704.1	NP_001004704.1	Q8NH72	OR4C6_HUMAN			1	758	+			243					B2RP11|Q6IFD2	Silent	SNP	ENST00000314259.3	37	c.729G>T	CCDS31506.1																																																																																				0.493	OR4C6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391504.1	NM_001004704		71	111	1	0	1.63007e-36	1	1.86979e-36	71	111					T	55433371	G	T	55433371	2	4	243	1	0	0	0	0	0	0	0	1	11052	1103	39	5		5	OR4C6	11	55433371	Silent	SNP	G	TCGA-HC-A6AL-01A-11D-A30E-08		55433371	79573145	29	11432											
MTL5	9633	broad.mit.edu	37	chr11	68480780	68480780	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttcaggcagcctgacctcctGcagttgcaccctttgttgtg	5	13	10	13	0	1	1	1	1	0	0	2	1	2	1	4	1	3	5	4	1	0	4			TCGA-HC-A6AL-01A-11D-A30E-08	TCGA-HC-A6AL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	737965eb-4771-4559-b50a-0a8a12278942	093d9856-cabb-4d96-8609-b309430a7078	g.chr11:68480780G>T	ENST00000255087.5	-	8	1299	c.1116C>A	c.(1114-1116)tgC>tgA	p.C372*		NM_004923.3	NP_004914.2	Q9Y4I5	MTL5_HUMAN	metallothionein-like 5, testis-specific (tesmin)	372	CRC. {ECO:0000255|PROSITE- ProRule:PRU00971}.				cell differentiation (GO:0030154)|cellular metal ion homeostasis (GO:0006875)|multicellular organismal development (GO:0007275)|response to metal ion (GO:0010038)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)	p.C372*(1)		breast(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)	15	Esophageal squamous(3;4.37e-12)		LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.185)			CTGACCTCCTGCAGTTGCACC	0.478																																						ENST00000255087.5																			1	Substitution - Nonsense(1)	p.C372*(1)	lung(1)	breast(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)	15						c.(1114-1116)tgC>tgA		metallothionein-like 5, testis-specific (tesmin)							175	169	171					11																	68480780		2200	4294	6494	SO:0001587	stop_gained	9633				cell differentiation|cellular metal ion homeostasis|multicellular organismal development|response to metal ion|spermatogenesis	cytoplasm|nucleus|soluble fraction	metal ion binding	g.chr11:68480780G>T	U86074	CCDS8184.1, CCDS44661.1	11q13.2-q13.3	2007-01-03			ENSG00000132749	ENSG00000132749			7446	protein-coding gene	gene with protein product	"CXC domain containing 2"	604374				1091092	Standard	XR_428932		Approved	CXCDC2	uc001ooc.3	Q9Y4I5	OTTHUMG00000167891	ENST00000255087.5:c.1116C>A	11.37:g.68480780G>T	ENSP00000255087:p.Cys372*						p.C372*	NM_004923.3	NP_004914.2	Q9Y4I5	MTL5_HUMAN	LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.185)		8	1299	-	Esophageal squamous(3;4.37e-12)		372			CXC 2.		A8K8J3|Q4G182|Q6P2E2|Q8NCC8	Nonsense_Mutation	SNP	ENST00000255087.5	37	c.1116C>A	CCDS8184.1	.	.	.	.	.	.	.	.	.	.	G	9.308	1.054939	0.19907	.	.	ENSG00000132749	ENST00000255087	.	.	.	4.45	-3.53	0.04667	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-11.0893	12.9933	0.58632	0.2923:0.0:0.7077:0.0	.	.	.	.	X	372	.	ENSP00000255087:C372X	C	-	3	2	MTL5	68237356	1.000000	0.71417	0.037000	0.18230	0.022000	0.10575	0.993000	0.29680	-0.526000	0.06383	-0.378000	0.06908	TGC		0.478	MTL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396844.1	NM_004923		82	196	1	0	3.14276e-30	1	3.55269e-30	82	196					T	68480780	G	T	68480780	4	4	243	1	0	0	0	0	0	1	0	0	9936	1311	46	5	422	5	MTL5	11	68480780	Nonsense_Mutation	SNP	G	TCGA-HC-A6AL-01A-11D-A30E-08	13047409	68480780	66525736	30	11433											
BUD13	84811	broad.mit.edu	37	chr11	116633428	116633428	+	Frame_Shift_Del	DEL	T	T	-																															agaagtcttgctagaggctcTttctggggctttaccacttt																										TCGA-HC-A6AL-01A-11D-A30E-08	TCGA-HC-A6AL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	737965eb-4771-4559-b50a-0a8a12278942	093d9856-cabb-4d96-8609-b309430a7078	g.chr11:116633428delT	ENST00000260210.4	-	4	900	c.877delA	c.(877-879)agafs	p.R293fs	BUD13_ENST00000375445.3_Intron	NM_032725.3	NP_116114.1	Q9BRD0	BUD13_HUMAN	BUD13 homolog (S. cerevisiae)	293					mRNA export from nucleus (GO:0006406)|mRNA splicing, via spliceosome (GO:0000398)	nucleus (GO:0005634)|RES complex (GO:0070274)	poly(A) RNA binding (GO:0044822)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|pancreas(2)|skin(1)|urinary_tract(1)	22	all_hematologic(175;0.0487)	all_cancers(61;1.72e-06)|all_epithelial(67;0.000735)|Melanoma(852;0.022)|Acute lymphoblastic leukemia(157;0.0255)|Medulloblastoma(222;0.0523)|Breast(348;0.056)|all_hematologic(158;0.0588)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|Epithelial(105;5.81e-06)|all cancers(92;0.000144)|OV - Ovarian serous cystadenocarcinoma(223;0.154)		CTAGAGGCTCTTTCTGGGGCT	0.493																																						ENST00000260210.4																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|pancreas(2)|skin(1)|urinary_tract(1)	22						c.(877-879)gafs		BUD13 homolog (S. cerevisiae)							117	120	119					11																	116633428		2201	4296	6497	SO:0001589	frameshift_variant	84811							g.chr11:116633428delT	BC006350	CCDS8374.1, CCDS53712.1	11q23.3	2012-06-07	2007-01-12		ENSG00000137656	ENSG00000137656			28199	protein-coding gene	gene with protein product	"functional spliceosome-associated protein 71"		"BUD13 homolog (yeast)"			12477932	Standard	NM_032725		Approved	MGC13125, fSAP71, Cwc26	uc001ppn.3	Q9BRD0	OTTHUMG00000045136	ENST00000260210.4:c.877delA	11.37:g.116633428delT	ENSP00000260210:p.Arg293fs					BUD13_ENST00000375445.3_Intron	p.R293fs	NM_032725.3	NP_116114.1	Q9BRD0	BUD13_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|Epithelial(105;5.81e-06)|all cancers(92;0.000144)|OV - Ovarian serous cystadenocarcinoma(223;0.154)	4	900	-	all_hematologic(175;0.0487)	all_cancers(61;1.72e-06)|all_epithelial(67;0.000735)|Melanoma(852;0.022)|Acute lymphoblastic leukemia(157;0.0255)|Medulloblastoma(222;0.0523)|Breast(348;0.056)|all_hematologic(158;0.0588)	293					A8K0S0|Q96LS7	Frame_Shift_Del	DEL	ENST00000260210.4	37	c.877delA	CCDS8374.1																																																																																				0.493	BUD13-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000104864.1	NM_032725		8	210						8	210	---	---	---	---	-	116633428	T	-	116633428	7	5	243	1	0	1	0	1	0	0	0	0	1573	1617	56	0	1010	0	BUD13	11	116633428	Frame_Shift_Del	DEL	T	TCGA-HC-A6AL-01A-11D-A30E-08	48152648	116633428	18373088	31	11434											
ZNF641	121274	broad.mit.edu	37	chr12	48741844	48741844	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ttcattgattcccatcctgtCcccagcgctgctgtctgttc	4	15	7	15	1	2	1	1	1	1	0	6	1	5	1	4	0	2	3	4	0	0	4			TCGA-HC-A6AL-01A-11D-A30E-08	TCGA-HC-A6AL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	737965eb-4771-4559-b50a-0a8a12278942	093d9856-cabb-4d96-8609-b309430a7078	g.chr12:48741844C>T	ENST00000544117.2	-	2	780	c.72G>A	c.(70-72)ggG>ggA	p.G24G	ZNF641_ENST00000448928.3_Silent_p.G10G|RP11-370I10.6_ENST00000548257.1_RNA|ZNF641_ENST00000547026.1_Silent_p.G10G|ZNF641_ENST00000301042.3_Silent_p.G24G			Q96N77	ZN641_HUMAN	zinc finger protein 641	24					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(1)|endometrium(2)|kidney(3)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	12						CCCATCCTGTCCCCAGCGCTG	0.517																																						ENST00000544117.2																			0				breast(1)|endometrium(2)|kidney(3)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	12						c.(70-72)ggG>ggA		zinc finger protein 641							125	104	111					12																	48741844		2203	4300	6503	SO:0001819	synonymous_variant	121274				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding	g.chr12:48741844C>T	BC018090	CCDS8763.1, CCDS53787.1, CCDS53788.1	12q13.11	2013-01-08				ENSG00000167528		"Zinc fingers, C2H2-type", "-"	31834	protein-coding gene	gene with protein product		613906					Standard	NM_152320		Approved	FLJ31295	uc001rro.2	Q96N77		ENST00000544117.2:c.72G>A	12.37:g.48741844C>T						ZNF641_ENST00000547026.1_Silent_p.G10G|ZNF641_ENST00000301042.3_Silent_p.G24G|ZNF641_ENST00000448928.3_Silent_p.G10G	p.G24G			Q96N77	ZN641_HUMAN			2	780	-			24					B3KS43|B4DNU5|Q8TCQ7|Q8WVE1	Silent	SNP	ENST00000544117.2	37	c.72G>A	CCDS8763.1																																																																																				0.517	ZNF641-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000406518.1	NM_152320		31	62	0	0	0	1	0	31	62					T	48741844	C	T	48741844	2	4	243	1	0	0	0	0	0	0	0	1	18054	842	30	3		3	ZNF641	12	48741844	Silent	SNP	C	TCGA-HC-A6AL-01A-11D-A30E-08		48741844	85110051	32	11435											
ZNF140	7699	broad.mit.edu	37	chr12	133683237	133683237	+	Nonstop_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttccttactgaacaccagtgAatttacactgcaaagaaaaa	17	10	5	9	0	0	3	0	2	0	1	1	3	1	3	2	0	4	1	2	0	7	4			TCGA-HC-A6AL-01A-11D-A30E-08	TCGA-HC-A6AL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	737965eb-4771-4559-b50a-0a8a12278942	093d9856-cabb-4d96-8609-b309430a7078	g.chr12:133683237A>C	ENST00000355557.2	+	5	2657	c.1374A>C	c.(1372-1374)tgA>tgC	p.*458C	ZNF140_ENST00000440550.2_3'UTR|ZNF140_ENST00000544426.1_Nonstop_Mutation_p.*355C	NM_003440.2	NP_003431.2	P52738	ZN140_HUMAN	zinc finger protein 140	0					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(1)|large_intestine(4)|lung(1)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	10	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;1.28e-06)|all_epithelial(31;0.0051)|Lung NSC(355;0.114)		OV - Ovarian serous cystadenocarcinoma(86;3.58e-08)|Epithelial(86;6.6e-07)|all cancers(50;2.28e-05)		AACACCAGTGAATTTACACTG	0.343																																						ENST00000355557.2																			0				NS(1)|endometrium(1)|large_intestine(4)|lung(1)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	10						c.(1372-1374)tgA>tgC		zinc finger protein 140							41	44	43					12																	133683237		2176	4238	6414	SO:0001578	stop_lost	7699					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr12:133683237A>C	U09368	CCDS9282.1, CCDS73550.1	12q24.33	2013-01-08	2006-06-13		ENSG00000196387	ENSG00000196387		"Zinc fingers, C2H2-type", "-"	12925	protein-coding gene	gene with protein product		604082	"zinc finger protein 140 (clone pHZ-39)"			7557990	Standard	XR_245353		Approved	pHZ-39	uc001ulo.3	P52738	OTTHUMG00000167942	ENST00000355557.2:c.1374A>C	12.37:g.133683237A>C	ENSP00000347755:p.*458Cysext*39					ZNF140_ENST00000440550.2_3'UTR|ZNF140_ENST00000544426.1_Nonstop_Mutation_p.*355C	p.*458C	NM_003440.2	NP_003431.2	P52738	ZN140_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.58e-08)|Epithelial(86;6.6e-07)|all cancers(50;2.28e-05)	5	2657	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;1.28e-06)|all_epithelial(31;0.0051)|Lung NSC(355;0.114)	0					D3DXJ3|Q05CP6|Q8IV75	Nonstop_Mutation	SNP	ENST00000355557.2	37	c.1374A>C	CCDS9282.1	.	.	.	.	.	.	.	.	.	.	A	8.443	0.851251	0.17034	.	.	ENSG00000196387	ENST00000355557;ENST00000544426	.	.	.	2.82	2.82	0.32997	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.7121	0.28684	0.7874:0.2125:0.0:0.0	.	.	.	.	C	458;355	.	.	X	+	3	0	ZNF140	132193310	0.001000	0.12720	0.926000	0.36857	0.647000	0.38526	-0.157000	0.10085	1.544000	0.49359	0.460000	0.39030	TGA		0.343	ZNF140-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397169.1	NM_003440		16	36	0	0	0	1	0	16	36					C	133683237	A	C	133683237	4	2	243	1	0	0	0	0	0	0	0	0	17726	259	9	5	1388	5	ZNF140	12	133683237	Nonstop_Mutation	SNP	A	TCGA-HC-A6AL-01A-11D-A30E-08	84941393	133683237	168658	33	11436											
FLT1	2321	broad.mit.edu	37	chr13	28919630	28919630	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aataggagccagaagagagtCgcagccacacaggtgcatgt	14	5	13	9	1	0	2	0	0	0	2	1	4	0	3	2	2	3	2	2	2	3	1	rs142392658		TCGA-HC-A6AL-01A-11D-A30E-08	TCGA-HC-A6AL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	737965eb-4771-4559-b50a-0a8a12278942	093d9856-cabb-4d96-8609-b309430a7078	g.chr13:28919630C>T	ENST00000282397.4	-	16	2558	c.2307G>A	c.(2305-2307)gcG>gcA	p.A769A	FLT1_ENST00000540678.1_5'UTR	NM_002019.4	NP_002010.2	P17948	VGFR1_HUMAN	fms-related tyrosine kinase 1	769					blood vessel morphogenesis (GO:0048514)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|embryonic morphogenesis (GO:0048598)|monocyte chemotaxis (GO:0002548)|patterning of blood vessels (GO:0001569)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein autophosphorylation (GO:0046777)|sprouting angiogenesis (GO:0002040)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor receptor-1 signaling pathway (GO:0036323)|vascular endothelial growth factor signaling pathway (GO:0038084)	endosome (GO:0005768)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|placental growth factor-activated receptor activity (GO:0036332)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)|VEGF-A-activated receptor activity (GO:0036326)|VEGF-B-activated receptor activity (GO:0036327)			NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Axitinib(DB06626)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	AGAAGAGAGTCGCAGCCACAC	0.398																																						ENST00000282397.4																			0				NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115						c.(2305-2307)gcG>gcA		fms-related tyrosine kinase 1	Sunitinib(DB01268)	C		0,4406		0,0,2203	61	61	61		2307	-9.2	0.4	13	dbSNP_134	61	3,8597	3.0+/-9.4	0,3,4297	no	coding-synonymous	FLT1	NM_002019.4		0,3,6500	TT,TC,CC		0.0349,0.0,0.0231		769/1339	28919630	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	2321				cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway	extracellular space|Golgi apparatus|integral to plasma membrane|nucleus	ATP binding|growth factor binding|vascular endothelial growth factor receptor activity	g.chr13:28919630C>T	AF063657	CCDS9330.1, CCDS53860.1, CCDS53861.1, CCDS73556.1	13q12	2014-09-17	2012-11-19		ENSG00000102755	ENSG00000102755	2.7.10.1	"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	3763	protein-coding gene	gene with protein product	"vascular endothelial growth factor receptor 1", "vascular permeability factor receptor"	165070	"fms-related tyrosine kinase 1 (vascular endothelial growth factor/vascular permeability factor receptor)"	FLT		2158038	Standard	NM_001159920		Approved	VEGFR1	uc001usb.3	P17948	OTTHUMG00000016648	ENST00000282397.4:c.2307G>A	13.37:g.28919630C>T						FLT1_ENST00000540678.1_5'UTR	p.A769A	NM_002019.4	NP_002010.2	P17948	VGFR1_HUMAN	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	16	2558	-	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	769					A3E342|A3E344|A8KA71|B0LPF1|B2BF46|B2BF47|B2BF48|B3FR89|B5A923|F5H5L6|O60722|P16057|Q12954	Silent	SNP	ENST00000282397.4	37	c.2307G>A	CCDS9330.1																																																																																				0.398	FLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044322.1			8	18	0	0	0	1	0	8	18					T	28919630	C	T	28919630	2	4	243	1	0	0	0	0	0	0	0	1	5941	871	31	2		2	FLT1	13	28919630	Silent	SNP	C	TCGA-HC-A6AL-01A-11D-A30E-08		28919630	86250248	34	11437											
RBM23	55147	broad.mit.edu	37	chr14	23374621	23374621	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	actgcatacagaaaactgtgCgggcatcacgctcctcagga	12	7	10	12	2	2	1	2	0	0	1	3	2	3	2	1	2	4	3	1	2	3	1	rs572895941	byFrequency	TCGA-HC-A6AL-01A-11D-A30E-08	TCGA-HC-A6AL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	737965eb-4771-4559-b50a-0a8a12278942	093d9856-cabb-4d96-8609-b309430a7078	g.chr14:23374621C>T	ENST00000359890.3	-	7	692	c.497G>A	c.(496-498)cGc>cAc	p.R166H	RBM23_ENST00000555209.1_5'UTR|RBM23_ENST00000542016.2_5'UTR|RBM23_ENST00000556984.1_5'Flank|RBM23_ENST00000346528.5_Missense_Mutation_p.R132H|RBM23_ENST00000399922.2_Missense_Mutation_p.R150H	NM_001077351.1	NP_001070819.1	Q86U06	RBM23_HUMAN	RNA binding motif protein 23	166	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA processing (GO:0006397)	membrane (GO:0016020)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			endometrium(3)|kidney(2)|lung(3)|prostate(1)|skin(1)	10	all_cancers(95;4.69e-05)			GBM - Glioblastoma multiforme(265;0.0128)		GAAAACTGTGCGGGCATCACG	0.507													C|||	2	0.000399361	0.0015	0	5008	,	,		19990	0		0	False		,,,				2504	0					ENST00000359890.3																			0				endometrium(3)|kidney(2)|lung(3)|prostate(1)|skin(1)	10						c.(496-498)cGc>cAc		RNA binding motif protein 23							108	104	106					14																	23374621		1941	4137	6078	SO:0001583	missense	0				mRNA processing	nucleus	nucleotide binding|RNA binding	g.chr14:23374621C>T	AF275678	CCDS41919.1, CCDS41920.1, CCDS41921.1	14q11.1	2014-07-03	2004-04-23	2004-04-23		ENSG00000100461		"RNA binding motif (RRM) containing"	20155	protein-coding gene	gene with protein product	"coactivator of activating protein-1 and estrogen recep- tors beta"		"RNA-binding region (RNP1, RRM) containing 4"	RNPC4		15694343	Standard	NM_018107		Approved	FLJ10482, CAPERbeta	uc001whg.3	Q86U06		ENST00000359890.3:c.497G>A	14.37:g.23374621C>T	ENSP00000352956:p.Arg166His					RBM23_ENST00000555209.1_5'UTR|RBM23_ENST00000346528.5_Missense_Mutation_p.R132H|RBM23_ENST00000542016.2_5'UTR|RBM23_ENST00000399922.2_Missense_Mutation_p.R150H	p.R166H	NM_001077351.1	NP_001070819.1	Q86U06	RBM23_HUMAN		GBM - Glioblastoma multiforme(265;0.0128)	7	692	-	all_cancers(95;4.69e-05)		166			RRM 1.		D3DS32|Q8ND16|Q8TB88|Q8WY40|Q9BUJ1|Q9NVV7	Missense_Mutation	SNP	ENST00000359890.3	37	c.497G>A	CCDS41921.1	.	.	.	.	.	.	.	.	.	.	C	35	5.433406	0.96150	.	.	ENSG00000100461	ENST00000359890;ENST00000338980;ENST00000399922;ENST00000346528	T;T;T	0.79454	-1.27;1.12;0.83	5.12	5.12	0.69794	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (1);	0.089733	0.47455	D	0.000223	D	0.91459	0.7304	H	0.94582	3.555	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.985;0.999;0.999;0.999	D	0.93547	0.6883	10	0.87932	D	0	-4.9366	17.5007	0.87731	0.0:1.0:0.0:0.0	.	166;132;150;166	Q86U06-3;Q86U06-4;Q86U06-2;Q86U06	.;.;.;RBM23_HUMAN	H	166;143;150;132	ENSP00000352956:R166H;ENSP00000382806:R150H;ENSP00000339220:R132H	ENSP00000305783:R166H	R	-	2	0	RBM23	22444461	1.000000	0.71417	0.998000	0.56505	0.995000	0.86356	6.858000	0.75461	2.669000	0.90835	0.655000	0.94253	CGC		0.507	RBM23-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000413545.3			4	152	0	0	0	1	0	4	152					T	23374621	C	T	23374621	3	4	243	1	0	0	0	0	1	0	0	0	13123	768	27	1	854	1	RBM23	14	23374621	Missense_Mutation	SNP	C	TCGA-HC-A6AL-01A-11D-A30E-08		23374621	83974919	35	11438											
PRKD1	5587	broad.mit.edu	37	chr14	30132963	30132963	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cagatgatgtgcggatggtgCtgaccccagtgagggaaacg	10	7	16	8	2	0	4	0	3	0	1	0	6	0	6	2	3	3	1	2	3	1	0			TCGA-HC-A6AL-01A-11D-A30E-08	TCGA-HC-A6AL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	737965eb-4771-4559-b50a-0a8a12278942	093d9856-cabb-4d96-8609-b309430a7078	g.chr14:30132963C>G	ENST00000331968.5	-	4	867	c.638G>C	c.(637-639)aGc>aCc	p.S213T	PRKD1_ENST00000415220.2_Missense_Mutation_p.S213T	NM_002742.2	NP_002733.2	Q15139	KPCD1_HUMAN	protein kinase D1	213					angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|cellular response to oxidative stress (GO:0034599)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|Golgi organization (GO:0007030)|Golgi vesicle transport (GO:0048193)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|intracellular signal transduction (GO:0035556)|negative regulation of cell death (GO:0060548)|negative regulation of endocytosis (GO:0045806)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell chemotaxis by VEGF-activated vascular endothelial growth factor receptor signaling pathway (GO:0038033)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of histone deacetylase activity (GO:1901727)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of neuron projection development (GO:0010976)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein autophosphorylation (GO:0046777)|regulation of integrin-mediated signaling pathway (GO:2001044)|regulation of keratinocyte proliferation (GO:0010837)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cell cortex (GO:0005938)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|lung(32)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	78	Hepatocellular(127;0.0604)		LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252)	GBM - Glioblastoma multiforme(265;0.00888)		GCGGATGGTGCTGACCCCAGT	0.488																																						ENST00000331968.5																			0				NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|lung(32)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	78						c.(637-639)aGc>aCc		protein kinase D1							213	207	209					14																	30132963		2203	4300	6503	SO:0001583	missense	5587				cell proliferation|intracellular signal transduction|sphingolipid metabolic process	cytosol|integral to plasma membrane	ATP binding|metal ion binding|protein binding|protein kinase C activity	g.chr14:30132963C>G		CCDS9637.1	14q11	2013-01-10	2004-10-28	2004-10-30	ENSG00000184304	ENSG00000184304	2.7.11.1	"Pleckstrin homology (PH) domain containing"	9407	protein-coding gene	gene with protein product		605435	"protein kinase C, mu"	PRKCM		8119958, 10965134	Standard	NM_002742		Approved	PKCM, PKD, PKC-mu	uc001wqh.3	Q15139	OTTHUMG00000140203	ENST00000331968.5:c.638G>C	14.37:g.30132963C>G	ENSP00000333568:p.Ser213Thr					PRKD1_ENST00000415220.2_Missense_Mutation_p.S213T	p.S213T	NM_002742.2	NP_002733.2	Q15139	KPCD1_HUMAN	LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252)	GBM - Glioblastoma multiforme(265;0.00888)	4	867	-	Hepatocellular(127;0.0604)		213					A6NL64|B2RAF6	Missense_Mutation	SNP	ENST00000331968.5	37	c.638G>C	CCDS9637.1	.	.	.	.	.	.	.	.	.	.	C	10.28	1.306354	0.23736	.	.	ENSG00000184304	ENST00000331968;ENST00000415220	T;T	0.67523	-0.27;-0.22	5.93	5.02	0.67125	.	0.458260	0.25014	N	0.033805	T	0.50240	0.1604	N	0.17474	0.49	0.33703	D	0.614763	B	0.06786	0.001	B	0.06405	0.002	T	0.51980	-0.8636	10	0.15499	T	0.54	-6.735	16.7833	0.85567	0.0:0.7873:0.2127:0.0	.	213	Q15139	KPCD1_HUMAN	T	213	ENSP00000333568:S213T;ENSP00000390535:S213T	ENSP00000333568:S213T	S	-	2	0	PRKD1	29202714	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	0.748000	0.26305	2.805000	0.96524	0.655000	0.94253	AGC		0.488	PRKD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000276611.2	NM_002742		26	185	0	0	0	1	0	26	185					G	30132963	C	G	30132963	3	3	243	1	0	0	0	0	1	0	0	0	12518	797	28	5	2160	5	PRKD1	14	30132963	Missense_Mutation	SNP	C	TCGA-HC-A6AL-01A-11D-A30E-08	6758342	30132963	77216577	36	11439											
PLEKHG3	26030	broad.mit.edu	37	chr14	65194559	65194559	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aactccagcagctggttgaaCgtgaaggggcccctctcccc	8	7	11	15	1	1	2	0	2	1	0	3	2	2	2	5	3	4	3	5	3	3	1	rs551678656		TCGA-HC-A6AL-01A-11D-A30E-08	TCGA-HC-A6AL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	737965eb-4771-4559-b50a-0a8a12278942	093d9856-cabb-4d96-8609-b309430a7078	g.chr14:65194559C>T	ENST00000394691.1	+	2	357	c.210C>T	c.(208-210)aaC>aaT	p.N70N	PLEKHG3_ENST00000247226.7_Silent_p.N70N			A1L390	PKHG3_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 3	70							Rho guanyl-nucleotide exchange factor activity (GO:0005089)			endometrium(5)|kidney(2)|large_intestine(1)|lung(14)|prostate(2)|skin(3)|urinary_tract(2)	29				all cancers(60;0.00802)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)|BRCA - Breast invasive adenocarcinoma(234;0.0485)		GCTGGTTGAACGTGAAGGGGC	0.652													c|||	1	0.000199681	8e-04	0	5008	,	,		16651	0		0	False		,,,				2504	0					ENST00000247226.7																			0				endometrium(5)|kidney(2)|large_intestine(1)|lung(14)|prostate(2)|skin(3)|urinary_tract(2)	29						c.(208-210)aaC>aaT		pleckstrin homology domain containing, family G (with RhoGef domain) member 3							35	35	35					14																	65194559		2201	4300	6501	SO:0001819	synonymous_variant	26030				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	g.chr14:65194559C>T	AB011171	CCDS32098.1	14q23.3	2013-01-10	2004-12-01	2004-12-01	ENSG00000126822	ENSG00000126822		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	20364	protein-coding gene	gene with protein product			"KIAA0599"	KIAA0599			Standard	XM_005267511		Approved	ARHGEF43	uc001xhp.2	A1L390	OTTHUMG00000029671	ENST00000394691.1:c.210C>T	14.37:g.65194559C>T						PLEKHG3_ENST00000394691.1_Silent_p.N70N	p.N70N	NM_015549.1	NP_056364.1	A1L390	PKHG3_HUMAN		all cancers(60;0.00802)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)|BRCA - Breast invasive adenocarcinoma(234;0.0485)	2	518	+			70					A1L389|B5MEC9|O60339|Q6GMS3|Q6P4B1|Q7L3S3|Q86SW7|Q8TEF5|Q96EW6|Q9BT82	Silent	SNP	ENST00000394691.1	37	c.210C>T																																																																																					0.652	PLEKHG3-010	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000412028.1	NM_015549		7	39	0	0	0	1	0	7	39					T	65194559	C	T	65194559	2	4	243	1	0	0	0	0	0	0	0	1	12070	535	19	1		1	PLEKHG3	14	65194559	Silent	SNP	C	TCGA-HC-A6AL-01A-11D-A30E-08	35061596	65194559	42154981	37	11440											
ADAM21	8747	broad.mit.edu	37	chr14	70924676	70924676	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccatcaggcactctgccacaTttgaacacctggtttataag	11	11	7	12	0	2	1	1	1	1	0	2	1	2	1	3	2	2	2	3	2	3	4			TCGA-HC-A6AL-01A-11D-A30E-08	TCGA-HC-A6AL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	737965eb-4771-4559-b50a-0a8a12278942	093d9856-cabb-4d96-8609-b309430a7078	g.chr14:70924676T>C	ENST00000603540.1	+	2	718	c.460T>C	c.(460-462)Ttt>Ctt	p.F154L	ADAM21_ENST00000267499.3_Missense_Mutation_p.F154L|RP11-486O13.4_ENST00000556646.1_lincRNA	NM_003813.3	NP_003804.2	Q9UKJ8	ADA21_HUMAN	ADAM metallopeptidase domain 21	154					binding of sperm to zona pellucida (GO:0007339)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)	axon (GO:0030424)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	31				all cancers(60;0.00326)|BRCA - Breast invasive adenocarcinoma(234;0.00646)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)		CTCTGCCACATTTGAACACCT	0.423																																						ENST00000603540.1																			0				central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	31						c.(460-462)Ttt>Ctt		ADAM metallopeptidase domain 21							42	52	49					14																	70924676		2194	4300	6494	SO:0001583	missense	8747				proteolysis|single fertilization	integral to membrane	metalloendopeptidase activity|zinc ion binding	g.chr14:70924676T>C	AF029900	CCDS9804.1	14q24.1	2008-09-05	2005-08-18		ENSG00000139985	ENSG00000139985		"ADAM metallopeptidase domain containing"	200	protein-coding gene	gene with protein product		603713	"a disintegrin and metalloproteinase domain 21"			9469942	Standard	NM_003813		Approved	ADAM31	uc001xmd.3	Q9UKJ8		ENST00000603540.1:c.460T>C	14.37:g.70924676T>C	ENSP00000474385:p.Phe154Leu					ADAM21_ENST00000267499.3_Missense_Mutation_p.F154L|RP11-486O13.4_ENST00000556646.1_lincRNA	p.F154L	NM_003813.3	NP_003804.2	Q9UKJ8	ADA21_HUMAN		all cancers(60;0.00326)|BRCA - Breast invasive adenocarcinoma(234;0.00646)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)	2	718	+			154					O43507|Q2VPC6|Q32MR0	Missense_Mutation	SNP	ENST00000603540.1	37	c.460T>C	CCDS9804.1	.	.	.	.	.	.	.	.	.	.	T	15.57	2.873476	0.51695	.	.	ENSG00000139985	ENST00000267499	T	0.06294	3.32	3.76	3.76	0.43208	Peptidase M12B, propeptide (1);	0.148676	0.30338	N	0.009846	T	0.24392	0.0591	M	0.82823	2.61	0.35923	D	0.831979	D	0.55172	0.97	D	0.64595	0.927	T	0.36286	-0.9754	10	0.72032	D	0.01	.	12.9081	0.58164	0.0:0.0:0.0:1.0	.	154	Q9UKJ8	ADA21_HUMAN	L	154	ENSP00000267499:F154L	ENSP00000267499:F154L	F	+	1	0	ADAM21	69994429	1.000000	0.71417	1.000000	0.80357	0.460000	0.32559	4.910000	0.63321	1.697000	0.51169	0.455000	0.32223	TTT		0.423	ADAM21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413008.3			19	83	0	0	0	1	0	19	83					C	70924676	T	C	70924676	3	2	243	1	0	0	0	0	1	0	0	0	243	1493	52	4	462	4	ADAM21	14	70924676	Missense_Mutation	SNP	T	TCGA-HC-A6AL-01A-11D-A30E-08	5730117	70924676	36424864	38	11441											
SOLH	6650	broad.mit.edu	37	chr16	602648	602648	+	Frame_Shift_Del	DEL	G	G	-																															ccgagagcctccccagagccGccgggccacgtgctggctgt																										TCGA-HC-A6AL-01A-11D-A30E-08	TCGA-HC-A6AL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	737965eb-4771-4559-b50a-0a8a12278942	093d9856-cabb-4d96-8609-b309430a7078	g.chr16:602648delG	ENST00000219611.2	+	12	3144	c.2781delG	c.(2779-2781)ccgfs	p.P928fs	LA16c-366D1.3_ENST00000565879.1_RNA	NM_005632.2	NP_005623.1	O75808	CAN15_HUMAN	calpain 15	928					proteolysis (GO:0006508)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)	calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|cysteine-type peptidase activity (GO:0008234)|peptidase activity (GO:0008233)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)										CCCCAGAGCCGCCGGGCCACG	0.711																																						ENST00000219611.2																			0											c.(2779-2781)ccfs		calpain 15							4	6	5					16																	602648		1890	3822	5712	SO:0001589	frameshift_variant	6650							g.chr16:602648delG	U85647	CCDS10410.1	16p13.3	2013-06-27	2013-06-27	2013-06-27	ENSG00000103326	ENSG00000103326			11182	protein-coding gene	gene with protein product		603267	"small optic lobes (Drosophila) homolog", "small optic lobes homolog (Drosophila)"	SOLH		9722942	Standard	NM_005632		Approved		uc002chi.3	O75808	OTTHUMG00000119059	ENST00000219611.2:c.2781delG	16.37:g.602648delG	ENSP00000219611:p.Pro928fs					LA16c-366D1.3_ENST00000565879.1_RNA	p.P928fs	NM_005632.2	NP_005623.1					12	3144	+								B1B1M4|Q2KHS2|Q8WTY9|Q9BUW0	Frame_Shift_Del	DEL	ENST00000219611.2	37	c.2781delG	CCDS10410.1																																																																																				0.711	CAPN15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239271.1	NM_005632		2	4						2	4	---	---	---	---	-	602648	G	-	602648	7	5	243	1	0	1	0	1	0	0	0	0	14925	1074	38	0	2815	0	SOLH	16	602648	Frame_Shift_Del	DEL	G	TCGA-HC-A6AL-01A-11D-A30E-08		602648	89752105	39	11442											
SNX29	92017	broad.mit.edu	37	chr16	12293501	12293501	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aactgaagaaatatgtaggaGctgtccagatgctgaaaaga	17	8	11	5	0	0	5	0	2	0	3	1	6	1	6	1	1	3	3	1	1	7	2			TCGA-HC-A6AL-01A-11D-A30E-08	TCGA-HC-A6AL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	737965eb-4771-4559-b50a-0a8a12278942	093d9856-cabb-4d96-8609-b309430a7078	g.chr16:12293501G>T	ENST00000566228.1	+	14	1708	c.1639G>T	c.(1639-1641)Gct>Tct	p.A547S	SNX29_ENST00000306030.3_Missense_Mutation_p.A162S|SNX29_ENST00000323433.4_Missense_Mutation_p.A162S	NM_032167.3	NP_115543.3	Q8TEQ0	SNX29_HUMAN	sorting nexin 29	547						extracellular vesicular exosome (GO:0070062)	phosphatidylinositol binding (GO:0035091)			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	7						ATATGTAGGAGCTGTCCAGAT	0.463											OREG0006853	type=TRANSCRIPTION FACTOR BINDING SITE|Gene=LOC92017|TFbs=REST|Dataset=NRSF/REST ChIPSeq sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS)																										ENST00000566228.1																			0				endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	7						c.(1639-1641)Gct>Tct		sorting nexin 29							46	45	46					16																	12293501		1871	4113	5984	SO:0001583	missense	92017				cell communication		phosphatidylinositol binding	g.chr16:12293501G>T	AK074072	CCDS10553.2	16p13.13-p13.12	2011-08-16			ENSG00000048471	ENSG00000048471		"Sorting nexins"	30542	protein-coding gene	gene with protein product			"RUN domain containing 2A"	RUNDC2A		16782399	Standard	XM_005255682		Approved	FLJ12363	uc002dby.5	Q8TEQ0		ENST00000566228.1:c.1639G>T	16.37:g.12293501G>T	ENSP00000456480:p.Ala547Ser		OREG0006853	type=TRANSCRIPTION FACTOR BINDING SITE|Gene=LOC92017|TFbs=REST|Dataset=NRSF/REST ChIPSeq sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS)	678	SNX29_ENST00000306030.3_Missense_Mutation_p.A162S|SNX29_ENST00000323433.4_Missense_Mutation_p.A162S	p.A547S	NM_032167.3	NP_115543.3	Q8TEQ0	SNX29_HUMAN			14	1708	+			162					B5MDW2|Q8N2X2|Q9HA26	Missense_Mutation	SNP	ENST00000566228.1	37	c.1639G>T	CCDS10553.2	.	.	.	.	.	.	.	.	.	.	G	24.4	4.528638	0.85706	.	.	ENSG00000048471	ENST00000306030;ENST00000323433	.	.	.	5.38	5.38	0.77491	.	0.000000	0.85682	D	0.000000	T	0.68329	0.2989	M	0.77103	2.36	0.28094	N	0.931679	D	0.76494	0.999	D	0.76071	0.987	T	0.64676	-0.6351	9	0.45353	T	0.12	-10.1314	14.6517	0.68803	0.0:0.0:1.0:0.0	.	547	Q8TEQ0	SNX29_HUMAN	S	162	.	ENSP00000306940:A162S	A	+	1	0	SNX29	12201002	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.144000	0.77357	2.514000	0.84764	0.655000	0.94253	GCT		0.463	SNX29-005	PUTATIVE	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422622.1			3	39	1	0	1	1	1	3	39					T	12293501	G	T	12293501	3	4	243	1	0	0	0	0	1	0	0	0	14898	971	34	5	506	5	SNX29	16	12293501	Missense_Mutation	SNP	G	TCGA-HC-A6AL-01A-11D-A30E-08	11690853	12293501	78061252	40	11443											
CES1	1066	broad.mit.edu	37	chr16	55846952	55846952	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacagtgcccagaaggggttGactctggggagagagcagtg	10	6	17	8	0	1	3	0	1	1	2	1	5	1	4	1	4	2	2	1	4	1	1			TCGA-HC-A6AL-01A-11D-A30E-08	TCGA-HC-A6AL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	737965eb-4771-4559-b50a-0a8a12278942	093d9856-cabb-4d96-8609-b309430a7078	g.chr16:55846952G>T	ENST00000361503.4	-	9	1076	c.946C>A	c.(946-948)Caa>Aaa	p.Q316K	CES1_ENST00000422046.2_Missense_Mutation_p.Q316K|CES1_ENST00000360526.3_Missense_Mutation_p.Q317K			P23141	EST1_HUMAN	carboxylesterase 1	316					epithelial cell differentiation (GO:0030855)|metabolic process (GO:0008152)|response to toxic substance (GO:0009636)	endoplasmic reticulum (GO:0005783)	carboxylic ester hydrolase activity (GO:0052689)|methylumbelliferyl-acetate deacetylase activity (GO:0047374)								all cancers(182;0.13)|Epithelial(162;0.137)	Benzocaine(DB01086)|Capecitabine(DB01101)|Ciclesonide(DB01410)|Clopidogrel(DB00758)|Cyclandelate(DB04838)|Dabigatran etexilate(DB06695)|Indomethacin(DB00328)|Irinotecan(DB00762)|L-Carnitine(DB00583)|Mycophenolate mofetil(DB00688)|Oseltamivir(DB00198)|Probucol(DB01599)|Rufinamide(DB06201)|Tamoxifen(DB00675)|Trandolapril(DB00519)	AGAAGGGGTTGACTCTGGGGA	0.547																																					NSCLC(162;1801 2756 42904 52896)	ENST00000422046.2																			0											c.(946-948)Caa>Aaa		carboxylesterase 1	Aminoglutethimide(DB00357)|Bezafibrate(DB01393)|Cholestyramine(DB01432)|Moexipril(DB00691)						97	93	94					16																	55846952		2198	4300	6498	SO:0001583	missense	1066				response to toxin	endoplasmic reticulum lumen	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity	g.chr16:55846952G>T	BC012418	CCDS32450.1, CCDS45488.1, CCDS45489.1	16q22.2	2010-10-12	2010-10-12		ENSG00000198848	ENSG00000198848	3.1.1.1	"Carboxylesterases"	1863	protein-coding gene	gene with protein product	"human monocyte/macrophage serine esterase 1"	114835	"carboxylesterase 1 (monocyte/macrophage serine esterase 1)"			2070086, 20931200	Standard	XM_005255774		Approved	HMSE, CES2, HMSE1, SES1, CEH, CES1A1, CES1A2	uc002eil.3	P23141		ENST00000361503.4:c.946C>A	16.37:g.55846952G>T	ENSP00000355193:p.Gln316Lys					CES1_ENST00000360526.3_Missense_Mutation_p.Q317K|CES1_ENST00000361503.4_Missense_Mutation_p.Q316K	p.Q316K			P23141	EST1_HUMAN		all cancers(182;0.13)|Epithelial(162;0.137)	9	1227	-			316					A6NIM1|A8K3K8|A8K844|E9PAU8|P82127|Q00015|Q13657|Q14062|Q16737|Q16788|Q549X7|Q549X8|Q86UK2|Q96EE8|Q9UC52|Q9UDG8|Q9UK77|Q9ULY2	Missense_Mutation	SNP	ENST00000361503.4	37	c.946C>A	CCDS45488.1	.	.	.	.	.	.	.	.	.	.	.	6.408	0.443347	0.12164	.	.	ENSG00000198848	ENST00000360526;ENST00000361503;ENST00000422046;ENST00000426667	T;T;T	0.11169	2.97;2.97;2.8	3.85	-7.71	0.01254	Carboxylesterase, type B (1);	.	.	.	.	T	0.04003	0.0112	N	0.05383	-0.06	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.42120	-0.9470	9	0.42905	T	0.14	.	4.9949	0.14233	0.6515:0.1129:0.1222:0.1133	.	316;316;317	E9PAU8;P23141;P23141-2	.;EST1_HUMAN;.	K	317;316;316;181	ENSP00000353720:Q317K;ENSP00000355193:Q316K;ENSP00000390492:Q316K	ENSP00000353720:Q317K	Q	-	1	0	CES1	54404453	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.404000	0.02494	-1.588000	0.01627	-1.668000	0.00747	CAA		0.547	CES1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000433285.1	NM_001266		18	98	1	0	4.96729e-08	1	5.30752e-08	18	98					T	55846952	G	T	55846952	3	4	243	1	0	0	0	0	1	0	0	0	3269	1299	45	5	781	5	CES1	16	55846952	Missense_Mutation	SNP	G	TCGA-HC-A6AL-01A-11D-A30E-08	43553451	55846952	34507801	41	11444											
OR3A3	8392	broad.mit.edu	37	chr17	3324770	3324770	+	Silent	SNP	T	T	C																															cttatctacagcctcagaaaTactgatgttcagggcgctct																										TCGA-HC-A6AL-01A-11D-A30E-08	TCGA-HC-A6AL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	737965eb-4771-4559-b50a-0a8a12278942	093d9856-cabb-4d96-8609-b309430a7078	g.chr17:3324770T>C	ENST00000291231.1	+	1	909	c.909T>C	c.(907-909)aaT>aaC	p.N303N		NM_012373.2	NP_036505.2	P47888	OR3A3_HUMAN	olfactory receptor, family 3, subfamily A, member 3	303					signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(3)|prostate(1)	9						GCCTCAGAAATACTGATGTTC	0.498																																						ENST00000291231.1																			0				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(3)|prostate(1)	9						c.(907-909)aaT>aaC		olfactory receptor, family 3, subfamily A, member 3							78	79	79					17																	3324770		2203	4300	6503	SO:0001819	synonymous_variant	8392				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr17:3324770T>C	U04688	CCDS11025.1	17p13.3	2012-08-09			ENSG00000159961	ENSG00000159961		"GPCR / Class A : Olfactory receptors"	8284	protein-coding gene	gene with protein product				OR3A6, OR3A7, OR3A8P		8004088, 9500546	Standard	NM_012373		Approved	OR17-201, OR17-137, OR17-16	uc010vrd.2	P47888	OTTHUMG00000090649	ENST00000291231.1:c.909T>C	17.37:g.3324770T>C							p.N303N	NM_012373.2	NP_036505.2	P47888	OR3A3_HUMAN			1	909	+			303					Q2VPE4|Q6IFM6|Q9P1Q4|Q9UBE7	Silent	SNP	ENST00000291231.1	37	c.909T>C	CCDS11025.1																																																																																				0.498	OR3A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207309.1			25	81	0	0	0	1	0	25	81					C	3324770	T	C	3324770	2	2	243	1	0	0	0	0	0	0	0	1	11039	1403	49	4		4	OR3A3	17	3324770	Silent	SNP	T	TCGA-HC-A6AL-01A-11D-A30E-08		3324770	77870440	42	11445	61	2									
OR3A3	8392	broad.mit.edu	37	chr17	3324771	3324771	+	Missense_Mutation	SNP	A	A	C																															ttatctacagcctcagaaatActgatgttcagggcgctctg																										TCGA-HC-A6AL-01A-11D-A30E-08	TCGA-HC-A6AL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	737965eb-4771-4559-b50a-0a8a12278942	093d9856-cabb-4d96-8609-b309430a7078	g.chr17:3324771A>C	ENST00000291231.1	+	1	910	c.910A>C	c.(910-912)Act>Cct	p.T304P		NM_012373.2	NP_036505.2	P47888	OR3A3_HUMAN	olfactory receptor, family 3, subfamily A, member 3	304					signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(3)|prostate(1)	9						CCTCAGAAATACTGATGTTCA	0.498																																						ENST00000291231.1																			0				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(3)|prostate(1)	9						c.(910-912)Act>Cct		olfactory receptor, family 3, subfamily A, member 3							78	79	78					17																	3324771		2203	4300	6503	SO:0001583	missense	8392				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr17:3324771A>C	U04688	CCDS11025.1	17p13.3	2012-08-09			ENSG00000159961	ENSG00000159961		"GPCR / Class A : Olfactory receptors"	8284	protein-coding gene	gene with protein product				OR3A6, OR3A7, OR3A8P		8004088, 9500546	Standard	NM_012373		Approved	OR17-201, OR17-137, OR17-16	uc010vrd.2	P47888	OTTHUMG00000090649	ENST00000291231.1:c.910A>C	17.37:g.3324771A>C	ENSP00000291231:p.Thr304Pro						p.T304P	NM_012373.2	NP_036505.2	P47888	OR3A3_HUMAN			1	910	+			304					Q2VPE4|Q6IFM6|Q9P1Q4|Q9UBE7	Missense_Mutation	SNP	ENST00000291231.1	37	c.910A>C	CCDS11025.1	.	.	.	.	.	.	.	.	.	.	.	1.340	-0.594357	0.03771	.	.	ENSG00000159961	ENST00000291231	T	0.35973	1.28	2.56	-1.08	0.09936	.	.	.	.	.	T	0.14527	0.0351	N	0.05158	-0.105	0.19300	N	0.99998	B	0.02656	0.0	B	0.01281	0.0	T	0.20974	-1.0259	9	0.31617	T	0.26	.	3.7636	0.08613	0.511:0.2479:0.0:0.2411	.	304	P47888	OR3A3_HUMAN	P	304	ENSP00000291231:T304P	ENSP00000291231:T304P	T	+	1	0	OR3A3	3271521	0.000000	0.05858	0.574000	0.28523	0.608000	0.37181	0.066000	0.14489	-0.225000	0.09913	-0.333000	0.08304	ACT		0.498	OR3A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207309.1			24	82	0	0	0	1	0	24	82					C	3324771	A	C	3324771	3	2	243	1	0	0	0	0	1	0	0	0	11039	391	14	5	912	5	OR3A3	17	3324771	Missense_Mutation	SNP	A	TCGA-HC-A6AL-01A-11D-A30E-08	1	3324771	77870439	43	11446	61	2									
GRIN2C	2905	broad.mit.edu	37	chr17	72846785	72846785	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ggctctccacgatgacaaagGgccgctcttccagcgtggcc	7	7	12	15	3	2	1	0	1	2	0	4	2	3	1	4	3	1	2	4	3	1	1			TCGA-HC-A6AL-01A-11D-A30E-08	TCGA-HC-A6AL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	737965eb-4771-4559-b50a-0a8a12278942	093d9856-cabb-4d96-8609-b309430a7078	g.chr17:72846785G>A	ENST00000293190.5	-	5	1381	c.1235C>T	c.(1234-1236)cCc>cTc	p.P412L	GRIN2C_ENST00000578159.1_5'Flank|GRIN2C_ENST00000347612.4_Missense_Mutation_p.P412L	NM_000835.3	NP_000826.2	Q14957	NMDE3_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2C	412					directional locomotion (GO:0033058)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of protein catabolic process (GO:0042177)|neuromuscular process controlling balance (GO:0050885)|protein localization (GO:0008104)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|response to wounding (GO:0009611)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	cation channel activity (GO:0005261)|extracellular-glutamate-gated ion channel activity (GO:0005234)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	33	all_lung(278;0.172)|Lung NSC(278;0.207)				Acamprosate(DB00659)|Atomoxetine(DB00289)|Gabapentin(DB00996)|Glycine(DB00145)|Ketobemidone(DB06738)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	GATGACAAAGGGCCGCTCTTC	0.632																																						ENST00000293190.5																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	33						c.(1234-1236)cCc>cTc		glutamate receptor, ionotropic, N-methyl D-aspartate 2C	Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)						72	63	66					17																	72846785		2203	4300	6503	SO:0001583	missense	2905				glutamate signaling pathway	cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|N-methyl-D-aspartate selective glutamate receptor activity	g.chr17:72846785G>A		CCDS32724.1, CCDS62330.1	17q25.1	2012-08-29			ENSG00000161509	ENSG00000161509		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4587	protein-coding gene	gene with protein product		138254		NMDAR2C		9480759	Standard	NM_001278553		Approved	GluN2C	uc002jlt.1	Q14957	OTTHUMG00000044524	ENST00000293190.5:c.1235C>T	17.37:g.72846785G>A	ENSP00000293190:p.Pro412Leu					GRIN2C_ENST00000347612.4_Missense_Mutation_p.P412L	p.P412L	NM_000835.3	NP_000826.2	Q14957	NMDE3_HUMAN			5	1381	-	all_lung(278;0.172)|Lung NSC(278;0.207)		412					B2RTT1	Missense_Mutation	SNP	ENST00000293190.5	37	c.1235C>T	CCDS32724.1	.	.	.	.	.	.	.	.	.	.	G	11.95	1.790304	0.31685	.	.	ENSG00000161509	ENST00000293190;ENST00000347612	T	0.69561	-0.41	4.38	4.38	0.52667	.	0.000000	0.85682	D	0.000000	D	0.84451	0.5475	M	0.88979	2.995	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.88038	0.2779	10	0.87932	D	0	.	17.1007	0.86648	0.0:0.0:1.0:0.0	.	446;412	Q8IW23;Q14957	.;NMDE3_HUMAN	L	412;446	ENSP00000293190:P412L	ENSP00000293190:P412L	P	-	2	0	GRIN2C	70358380	1.000000	0.71417	1.000000	0.80357	0.027000	0.11550	9.470000	0.97683	2.430000	0.82344	0.555000	0.69702	CCC		0.632	GRIN2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103824.1			8	94	0	0	0	1	0	8	94					A	72846785	G	A	72846785	3	1	243	1	0	0	0	0	1	0	0	0	6781	1232	43	3	2502	3	GRIN2C	17	72846785	Missense_Mutation	SNP	G	TCGA-HC-A6AL-01A-11D-A30E-08	69522014	72846785	8348425	44	11447											
NOTUM	147111	broad.mit.edu	37	chr17	79914844	79914844	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atactgcttgttgtccaggaAccagccggagtcagccaggc	9	8	12	12	1	1	0	1	0	0	0	2	2	2	2	4	3	5	2	4	3	2	3			TCGA-HC-A6AL-01A-11D-A30E-08	TCGA-HC-A6AL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	737965eb-4771-4559-b50a-0a8a12278942	093d9856-cabb-4d96-8609-b309430a7078	g.chr17:79914844A>G	ENST00000409678.3	-	7	1185	c.802T>C	c.(802-804)Ttc>Ctc	p.F268L		NM_178493.5	NP_848588.3	Q6P988	NOTUM_HUMAN	notum pectinacetylesterase homolog (Drosophila)	268						extracellular region (GO:0005576)	hydrolase activity (GO:0016787)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	15	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)			TTGTCCAGGAACCAGCCGGAG	0.667																																						ENST00000409678.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	15						c.(802-804)Ttc>Ctc		notum pectinacetylesterase homolog (Drosophila)							113	86	95					17																	79914844		2203	4300	6503	SO:0001583	missense	147111					extracellular region	hydrolase activity	g.chr17:79914844A>G	BC060882	CCDS32771.2	17q25.3	2008-02-05			ENSG00000185269	ENSG00000185269			27106	protein-coding gene	gene with protein product		609847					Standard	NM_178493		Approved		uc010wvg.2	Q6P988	OTTHUMG00000154416	ENST00000409678.3:c.802T>C	17.37:g.79914844A>G	ENSP00000387310:p.Phe268Leu						p.F268L	NM_178493.5	NP_848588.3	Q6P988	NOTUM_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)		7	1185	-	all_neural(118;0.0878)|Ovarian(332;0.12)		268					Q8N410|Q8NI82	Missense_Mutation	SNP	ENST00000409678.3	37	c.802T>C	CCDS32771.2	.	.	.	.	.	.	.	.	.	.	A	34	5.366324	0.95900	.	.	ENSG00000185269	ENST00000409678;ENST00000425009	.	.	.	4.61	4.61	0.57282	.	0.000000	0.85682	D	0.000000	T	0.77498	0.4139	M	0.83603	2.65	0.80722	D	1	D	0.59767	0.986	P	0.60117	0.869	T	0.82004	-0.0672	9	0.87932	D	0	.	13.9697	0.64233	1.0:0.0:0.0:0.0	.	268	Q6P988	NOTUM_HUMAN	L	268	.	ENSP00000387310:F268L	F	-	1	0	NOTUM	77508134	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	8.667000	0.91153	1.693000	0.51124	0.402000	0.26972	TTC		0.667	NOTUM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335123.2	NM_178493		11	36	0	0	0	1	0	11	36					G	79914844	A	G	79914844	3	3	243	1	0	0	0	0	1	0	0	0	10552	43	2	4	708	4	NOTUM	17	79914844	Missense_Mutation	SNP	A	TCGA-HC-A6AL-01A-11D-A30E-08	7068059	79914844	1280366	45	11448											
LPPR2	64748	broad.mit.edu	37	chr19	11472140	11472140	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgcaaggatgcggccctctgCgcctacgcggtcacctacac	7	7	11	16	4	2	0	1	0	1	0	2	1	2	1	3	3	5	1	3	3	3	2			TCGA-HC-A6AL-01A-11D-A30E-08	TCGA-HC-A6AL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	737965eb-4771-4559-b50a-0a8a12278942	093d9856-cabb-4d96-8609-b309430a7078	g.chr19:11472140C>T	ENST00000251473.5	+	6	1015	c.639C>T	c.(637-639)tgC>tgT	p.C213C	DKFZP761J1410_ENST00000591608.1_Silent_p.C188C	NM_001170635.1|NM_022737.2	NP_001164106.1|NP_073574.2																					CGGCCCTCTGCGCCTACGCGG	0.697																																						ENST00000251473.5																			0											c.(637-639)tgC>tgT									26	30	28					19																	11472140		2198	4270	6468	SO:0001819	synonymous_variant	0							g.chr19:11472140C>T																												ENST00000251473.5:c.639C>T	19.37:g.11472140C>T						DKFZP761J1410_ENST00000591608.1_Silent_p.C188C	p.C213C	NM_001170635.1|NM_022737.2	NP_001164106.1|NP_073574.2					6	1015	+									Silent	SNP	ENST00000251473.5	37	c.639C>T	CCDS12258.1																																																																																				0.697	DKFZP761J1410-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458779.1			9	65	0	0	0	1	0	9	65					T	11472140	C	T	11472140	2	4	243	1	0	0	0	0	0	0	0	1	8925	776	27	1		1	LPPR2	19	11472140	Silent	SNP	C	TCGA-HC-A6AL-01A-11D-A30E-08		11472140	47656843	46	11449											
EMR3	84658	broad.mit.edu	37	chr19	14774336	14774336	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	acacaggaagcatttgggggGcacttagcacaggaagctgc	12	6	14	9	0	0	0	0	0	0	0	0	2	0	2	0	5	4	4	0	5	3	2			TCGA-HC-A6AL-01A-11D-A30E-08	TCGA-HC-A6AL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	737965eb-4771-4559-b50a-0a8a12278942	093d9856-cabb-4d96-8609-b309430a7078	g.chr19:14774336G>A	ENST00000253673.5	-	3	193	c.93C>T	c.(91-93)tgC>tgT	p.C31C	EMR3_ENST00000344373.4_Silent_p.C31C|EMR3_ENST00000443157.2_Silent_p.C31C|EMR3_ENST00000599900.1_5'UTR	NM_032571.3	NP_115960.2	Q9BY15	EMR3_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 3	31	EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00076}.				G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|autonomic_ganglia(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(12)|lung(14)|ovary(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	50						CATTTGGGGGGCACTTAGCAC	0.488																																						ENST00000253673.5																			0				NS(1)|autonomic_ganglia(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(12)|lung(14)|ovary(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	50						c.(91-93)tgC>tgT		egf-like module containing, mucin-like, hormone receptor-like 3							93	85	88					19																	14774336		2203	4300	6503	SO:0001819	synonymous_variant	84658				neuropeptide signaling pathway	extracellular space|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr19:14774336G>A	AF239764	CCDS12315.1, CCDS74296.1, CCDS74297.1	19p13.1	2014-08-08				ENSG00000131355		"-", "GPCR / Class B : Orphans"	23647	protein-coding gene	gene with protein product		606101				11279179, 12975309	Standard	XM_005260118		Approved		uc002mzi.4	Q9BY15		ENST00000253673.5:c.93C>T	19.37:g.14774336G>A						EMR3_ENST00000443157.2_Silent_p.C31C|EMR3_ENST00000599900.1_5'UTR|EMR3_ENST00000344373.4_Silent_p.C31C	p.C31C	NM_032571.3	NP_115960.2	Q9BY15	EMR3_HUMAN			3	193	-			31			EGF-like 1.			Silent	SNP	ENST00000253673.5	37	c.93C>T	CCDS12315.1																																																																																				0.488	EMR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466488.1	NM_032571		20	46	0	0	0	1	0	20	46					A	14774336	G	A	14774336	2	1	243	1	0	0	0	0	0	0	0	1	5106	1195	42	3		3	EMR3	19	14774336	Silent	SNP	G	TCGA-HC-A6AL-01A-11D-A30E-08	3302196	14774336	44354647	47	11450											
PLVAP	83483	broad.mit.edu	37	chr19	17487978	17487978	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	atgaagagcacgagccccagGatgatgaggaattggatgag	14	6	15	6	1	0	5	0	4	0	1	0	9	0	8	2	3	2	1	2	3	2	1			TCGA-HC-A6AL-01A-11D-A30E-08	TCGA-HC-A6AL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	737965eb-4771-4559-b50a-0a8a12278942	093d9856-cabb-4d96-8609-b309430a7078	g.chr19:17487978G>C	ENST00000252590.4	-	1	181	c.120C>G	c.(118-120)atC>atG	p.I40M		NM_031310.1	NP_112600.1	Q9BX97	PLVAP_HUMAN	plasmalemma vesicle associated protein	40					MAPK cascade (GO:0000165)|positive regulation of cellular extravasation (GO:0002693)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	caveola (GO:0005901)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)				cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						CGAGCCCCAGGATGATGAGGA	0.617																																						ENST00000252590.4																			0				cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(118-120)atC>atG		plasmalemma vesicle associated protein							87	79	82					19																	17487978		2203	4300	6503	SO:0001583	missense	83483					caveola|integral to membrane|perinuclear region of cytoplasm		g.chr19:17487978G>C	AF326591	CCDS32952.1	19p13.2	2008-07-17				ENSG00000130300			13635	protein-coding gene	gene with protein product	"fenestrated-endothelial linked structure protein; PV-1 protein"	607647				11401446	Standard	NM_031310		Approved	gp68, PV-1, PV1, FELS	uc002ngk.1	Q9BX97		ENST00000252590.4:c.120C>G	19.37:g.17487978G>C	ENSP00000252590:p.Ile40Met						p.I40M	NM_031310.1	NP_112600.1	Q9BX97	PLVAP_HUMAN			1	181	-			40					Q86VP0|Q8N8Y0|Q8ND68|Q8TER8|Q9BZD5	Missense_Mutation	SNP	ENST00000252590.4	37	c.120C>G	CCDS32952.1	.	.	.	.	.	.	.	.	.	.	G	17.56	3.420108	0.62622	.	.	ENSG00000130300	ENST00000252590	T	0.37411	1.2	4.77	3.74	0.42951	.	0.000000	0.85682	D	0.000000	T	0.47340	0.1440	L	0.36672	1.1	0.32587	N	0.527693	D	0.89917	1.0	D	0.91635	0.999	T	0.58967	-0.7542	10	0.87932	D	0	-48.6692	10.709	0.45971	0.0941:0.0:0.9059:0.0	.	40	Q9BX97	PLVAP_HUMAN	M	40	ENSP00000252590:I40M	ENSP00000252590:I40M	I	-	3	3	PLVAP	17348978	1.000000	0.71417	1.000000	0.80357	0.925000	0.55904	4.549000	0.60726	1.143000	0.42306	0.561000	0.74099	ATC		0.617	PLVAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463655.1	NM_031310		33	75	0	0	0	1	0	33	75					C	17487978	G	C	17487978	3	2	243	1	0	0	0	0	1	0	0	0	12116	1164	41	5	1232	5	PLVAP	19	17487978	Missense_Mutation	SNP	G	TCGA-HC-A6AL-01A-11D-A30E-08	2713642	17487978	41641005	48	11451											
SBSN	374897	broad.mit.edu	37	chr19	36015769	36015769	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtccgcgcttaccccagaggCtaacggcgtggttgtggccc	5	8	14	14	4	0	1	0	0	0	1	1	1	1	1	4	4	2	3	4	4	2	3			TCGA-HC-A6AL-01A-11D-A30E-08	TCGA-HC-A6AL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	737965eb-4771-4559-b50a-0a8a12278942	093d9856-cabb-4d96-8609-b309430a7078	g.chr19:36015769C>T	ENST00000452271.2	-	2	1724	c.1696G>A	c.(1696-1698)Gcc>Acc	p.A566T	SBSN_ENST00000518157.1_Missense_Mutation_p.A223T	NM_001166034.1	NP_001159506.1	Q6UWP8	SBSN_HUMAN	suprabasin	566						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)				large_intestine(5)|lung(6)|ovary(1)|prostate(2)	14	all_lung(56;1.62e-08)|Lung NSC(56;2.47e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			ACCCCAGAGGCTAACGGCGTG	0.602																																						ENST00000452271.2																			0				large_intestine(5)|lung(6)|ovary(1)|prostate(2)	14						c.(1696-1698)Gcc>Acc		suprabasin							105	97	100					19																	36015769		2203	4300	6503	SO:0001583	missense	374897					extracellular region		g.chr19:36015769C>T	AY358701	CCDS12464.1, CCDS54253.1	19q13.13	2008-02-05							24950	protein-coding gene	gene with protein product		609969				12228223	Standard	NM_198538		Approved	UNQ698, HLAR698	uc002oad.2	Q6UWP8		ENST00000452271.2:c.1696G>A	19.37:g.36015769C>T	ENSP00000430242:p.Ala566Thr					SBSN_ENST00000518157.1_Missense_Mutation_p.A223T	p.A566T	NM_001166034.1	NP_001159506.1	Q6UWP8	SBSN_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0724)		2	1724	-	all_lung(56;1.62e-08)|Lung NSC(56;2.47e-08)|Esophageal squamous(110;0.162)		223					A8K5J0|E9PBV3	Missense_Mutation	SNP	ENST00000452271.2	37	c.1696G>A	CCDS54253.1	.	.	.	.	.	.	.	.	.	.	C	3.208	-0.162172	0.06502	.	.	ENSG00000189001	ENST00000452271;ENST00000518157	T;T	0.44881	0.92;0.91	3.32	-2.66	0.06077	.	1.669180	0.04386	N	0.361666	T	0.18425	0.0442	N	0.04508	-0.205	0.09310	N	1	B;B	0.13145	0.0;0.007	B;B	0.08055	0.001;0.003	T	0.09885	-1.0654	10	0.30078	T	0.28	.	3.44	0.07460	0.1889:0.4615:0.0:0.3496	.	223;566	Q6UWP8;E9PBV3	SBSN_HUMAN;.	T	566;223	ENSP00000430242:A566T;ENSP00000428771:A223T	ENSP00000430242:A566T	A	-	1	0	SBSN	40707609	0.065000	0.20965	0.025000	0.17156	0.032000	0.12392	-0.126000	0.10563	-0.588000	0.05882	-0.361000	0.07541	GCC		0.602	SBSN-002	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000109463.3	NM_198538		5	29	0	0	0	1	0	5	29					T	36015769	C	T	36015769	3	4	243	1	0	0	0	0	1	0	0	0	13864	797	28	3	88	3	SBSN	19	36015769	Missense_Mutation	SNP	C	TCGA-HC-A6AL-01A-11D-A30E-08	18527791	36015769	23113214	49	11452											
GRWD1	83743	broad.mit.edu	37	chr19	48949711	48949712	+	Frame_Shift_Ins	INS	-	-	ACTTT																															cggacagagcttcctcttacINSactttacttgtgtgctggga																										TCGA-HC-A6AL-01A-11D-A30E-08	TCGA-HC-A6AL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	737965eb-4771-4559-b50a-0a8a12278942	093d9856-cabb-4d96-8609-b309430a7078	g.chr19:48949711_48949712insACTTT	ENST00000253237.5	+	2	490_491	c.257_258insACTTT	c.(256-261)acacttfs	p.-88fs		NM_031485.3	NP_113673.3	Q9BQ67	GRWD1_HUMAN	glutamate-rich WD repeat containing 1							cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|stomach(1)	19		all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000206)|all cancers(93;0.000207)|Epithelial(262;0.0125)|GBM - Glioblastoma multiforme(486;0.0222)		CTTCCTCTTACACTTTACTTGT	0.579																																						ENST00000253237.5																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|stomach(1)	19						c.(256-258)actfs		glutamate-rich WD repeat containing 1																																				SO:0001589	frameshift_variant	83743					nucleolus		g.chr19:48949711_48949712insACTTT	AF337808	CCDS12720.1	19q13.33	2013-05-21				ENSG00000105447		"WD repeat domain containing"	21270	protein-coding gene	gene with protein product	regulator of ribosome biogenesis 1 homolog (S. cerevisiae)	610597				15885502	Standard	NM_031485		Approved	WDR28, GRWD, RRB1	uc002pjd.2	Q9BQ67		ENST00000253237.5:c.258_262dupACTTT	19.37:g.48949712_48949716dupACTTT	ENSP00000253237:p.Tyr88fs						p.T86fs	NM_031485.3	NP_113673.3	Q9BQ67	GRWD1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000206)|all cancers(93;0.000207)|Epithelial(262;0.0125)|GBM - Glioblastoma multiforme(486;0.0222)	2	490_491	+		all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113)	86					Q8TF59	Frame_Shift_Ins	INS	ENST00000253237.5	37	c.257_258insACTTT	CCDS12720.1																																																																																				0.579	GRWD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466122.1	NM_031485		16	85						16	85	---	---	---	---	ACTTT	48949712	-	ACTTT	48949711	7	5	243	1	0	1	1	0	0	0	0	0	6811	478	17	0	263	0	GRWD1	19	48949711	Frame_Shift_Ins	INS	-	TCGA-HC-A6AL-01A-11D-A30E-08	12933942	48949711	10179272	50	11453											
CNOT3	4849	broad.mit.edu	37	chr19	54646887	54646887	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gctgcctcaagaaggtgtccGagggcgtggagcagtttgaa	9	8	16	8	2	1	2	1	1	0	1	2	4	2	3	2	3	2	3	2	3	3	1			TCGA-HC-A6AL-01A-11D-A30E-08	TCGA-HC-A6AL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	737965eb-4771-4559-b50a-0a8a12278942	093d9856-cabb-4d96-8609-b309430a7078	g.chr19:54646887G>A	ENST00000406403.1	+	2	1661	c.58G>A	c.(58-60)Gag>Aag	p.E20K	CNOT3_ENST00000358389.3_5'UTR|CNOT3_ENST00000221232.5_Missense_Mutation_p.E20K			O75175	CNOT3_HUMAN	CCR4-NOT transcription complex, subunit 3	20					gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|regulation of stem cell maintenance (GO:2000036)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|transcription, DNA-templated (GO:0006351)|trophectodermal cell differentiation (GO:0001829)	CCR4-NOT complex (GO:0030014)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|nucleus (GO:0005634)		p.E20K(6)		endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(7)|urinary_tract(3)	28	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					GAAGGTGTCCGAGGGCGTGGA	0.557																																						ENST00000406403.1																			6	Substitution - Missense(6)	p.E20K(6)	prostate(4)|urinary_tract(1)|haematopoietic_and_lymphoid_tissue(1)	endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(7)|urinary_tract(3)	28						c.(58-60)Gag>Aag		CCR4-NOT transcription complex, subunit 3							171	172	171					19																	54646887		2203	4300	6503	SO:0001583	missense	4849				nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding	g.chr19:54646887G>A	AF180474	CCDS12880.1	19q13.4	2011-02-14			ENSG00000088038	ENSG00000088038			7879	protein-coding gene	gene with protein product	"NOT3 (negative regulator of transcription 3, yeast) homolog"	604910		NOT3		10637334, 9734811	Standard	NM_014516		Approved	NOT3H, KIAA0691, LENG2	uc002qdj.2	O75175	OTTHUMG00000066468	ENST00000406403.1:c.58G>A	19.37:g.54646887G>A	ENSP00000383954:p.Glu20Lys					CNOT3_ENST00000221232.5_Missense_Mutation_p.E20K|CNOT3_ENST00000358389.3_5'UTR	p.E20K			O75175	CNOT3_HUMAN			2	1661	+	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)		20					Q9NZN7|Q9UF76	Missense_Mutation	SNP	ENST00000406403.1	37	c.58G>A	CCDS12880.1	.	.	.	.	.	.	.	.	.	.	G	35	5.507003	0.96386	.	.	ENSG00000088038	ENST00000221232;ENST00000406403	T;T	0.72725	-0.68;-0.68	5.04	5.04	0.67666	Not CCR4-Not complex component, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.85788	0.5778	M	0.85299	2.745	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.81914	0.995;0.993	D	0.88178	0.2869	10	0.87932	D	0	-31.302	17.5375	0.87837	0.0:0.0:1.0:0.0	.	20;20	B7Z6J7;O75175	.;CNOT3_HUMAN	K	20	ENSP00000221232:E20K;ENSP00000383954:E20K	ENSP00000221232:E20K	E	+	1	0	CNOT3	59338699	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.832000	0.92079	2.512000	0.84698	0.655000	0.94253	GAG		0.557	CNOT3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142130.3	NM_014516		89	198	0	0	0	1	0	89	198					A	54646887	G	A	54646887	3	1	243	1	0	0	0	0	1	0	0	0	3620	1059	37	2	64	2	CNOT3	19	54646887	Missense_Mutation	SNP	G	TCGA-HC-A6AL-01A-11D-A30E-08	5697176	54646887	4482096	51	11454											
PES1	23481	broad.mit.edu	37	chr22	30976074	30976074	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggtctgctgcccaggccggtCgacaatctgatgggtgatgc	6	9	15	11	2	2	2	0	2	2	0	3	3	2	2	2	4	3	1	2	4	1	0			TCGA-HC-A6AL-01A-11D-A30E-08	TCGA-HC-A6AL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	737965eb-4771-4559-b50a-0a8a12278942	093d9856-cabb-4d96-8609-b309430a7078	g.chr22:30976074C>T	ENST00000405677.1	-	13	1661	c.718G>A	c.(718-720)Gac>Aac	p.D240N	PES1_ENST00000402281.1_Missense_Mutation_p.D240N|PES1_ENST00000335214.6_Missense_Mutation_p.D374N|PES1_ENST00000402284.3_Missense_Mutation_p.D362N|PES1_ENST00000354694.7_Missense_Mutation_p.D379N	NM_001282328.1	NP_001269257.1			pescadillo ribosomal biogenesis factor 1											breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	29						CCAGGCCGGTCGACAATCTGA	0.572																																						ENST00000402281.1																			0				breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	29						c.(718-720)Gac>Aac		pescadillo ribosomal biogenesis factor 1							147	141	143					22																	30976074		2203	4300	6503	SO:0001583	missense	23481				cell proliferation|maturation of 5.8S rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|maturation of LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|regulation of cell cycle	chromosome|nucleoplasm|PeBoW complex|preribosome, large subunit precursor	protein binding	g.chr22:30976074C>T	U78310	CCDS13880.1, CCDS58802.1, CCDS74842.1	22q12.1	2012-02-23	2012-02-23		ENSG00000100029	ENSG00000100029			8848	protein-coding gene	gene with protein product		605819	"pescadillo (zebrafish) homolog 1, containing BRCT domain", "pescadillo homolog 1, containing BRCT domain (zebrafish)"			8985183, 10591208, 17353269	Standard	NM_014303		Approved	PES	uc003aij.2	O00541	OTTHUMG00000151077	ENST00000405677.1:c.718G>A	22.37:g.30976074C>T	ENSP00000385654:p.Asp240Asn					PES1_ENST00000402284.3_Missense_Mutation_p.D362N|PES1_ENST00000354694.6_Missense_Mutation_p.D379N|PES1_ENST00000405677.1_Missense_Mutation_p.D240N|PES1_ENST00000335214.6_Missense_Mutation_p.D374N	p.D240N			O00541	PESC_HUMAN			13	1709	-			379			Sufficient for nucleolar localization.			Missense_Mutation	SNP	ENST00000405677.1	37	c.718G>A		.	.	.	.	.	.	.	.	.	.	C	36	5.803052	0.96960	.	.	ENSG00000100029	ENST00000354694;ENST00000402281;ENST00000405677;ENST00000402284;ENST00000335214	T;T;T;T;T	0.37411	1.2;1.2;1.2;1.2;1.2	5.28	5.28	0.74379	BRCT (4);	0.000000	0.85682	D	0.000000	T	0.71187	0.3310	M	0.93898	3.47	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;0.998;1.0	T	0.79995	-0.1568	10	0.87932	D	0	-42.0393	18.5307	0.90990	0.0:1.0:0.0:0.0	.	379;362;374;379	B2RDF2;B5MCF9;O00541-2;O00541	.;.;.;PESC_HUMAN	N	379;240;240;362;374	ENSP00000346725:D379N;ENSP00000384366:D240N;ENSP00000385654:D240N;ENSP00000384252:D362N;ENSP00000334612:D374N	ENSP00000334612:D374N	D	-	1	0	PES1	29306074	1.000000	0.71417	0.993000	0.49108	0.997000	0.91878	7.656000	0.83736	2.467000	0.83353	0.655000	0.94253	GAC		0.572	PES1-002	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000321189.2	NM_014303		63	143	0	0	0	1	0	63	143					T	30976074	C	T	30976074	3	4	243	1	0	0	0	0	1	0	0	0	11733	884	31	2	651	2	PES1	22	30976074	Missense_Mutation	SNP	C	TCGA-HC-A6AL-01A-11D-A30E-08		30976074	20328492	52	11455											
TAB1	10454	broad.mit.edu	37	chr22	39826029	39826029	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttgtcctgcagccaaagcccGaccttaaccctgcagtccac	9	8	7	17	1	0	0	0	0	0	0	2	1	2	0	6	0	5	2	6	0	2	2			TCGA-HC-A6AL-01A-11D-A30E-08	TCGA-HC-A6AL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	737965eb-4771-4559-b50a-0a8a12278942	093d9856-cabb-4d96-8609-b309430a7078	g.chr22:39826029G>A	ENST00000216160.6	+	11	1379	c.1317G>A	c.(1315-1317)ccG>ccA	p.P439P	TAB1_ENST00000331454.3_Intron	NM_006116.2	NP_006107.1	Q15750	TAB1_HUMAN	TGF-beta activated kinase 1/MAP3K7 binding protein 1	439					activation of MAPK activity (GO:0000187)|activation of MAPKKK activity (GO:0000185)|Fc-epsilon receptor signaling pathway (GO:0038095)|heart morphogenesis (GO:0003007)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|lung development (GO:0030324)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transforming growth factor beta receptor signaling pathway (GO:0007179)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome membrane (GO:0010008)|nucleus (GO:0005634)|protein complex (GO:0043234)	catalytic activity (GO:0003824)|enzyme activator activity (GO:0008047)|kinase activator activity (GO:0019209)			breast(1)|endometrium(2)|large_intestine(2)|lung(8)|urinary_tract(1)	14						GCCAAAGCCCGACCTTAACCC	0.662																																						ENST00000216160.6																			0				breast(1)|endometrium(2)|large_intestine(2)|lung(8)|urinary_tract(1)	14						c.(1315-1317)ccG>ccA		TGF-beta activated kinase 1/MAP3K7 binding protein 1							67	66	66					22																	39826029		2203	4300	6503	SO:0001819	synonymous_variant	10454				activation of MAPK activity|activation of MAPKKK activity|I-kappaB kinase/NF-kappaB cascade|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane	catalytic activity|protein binding	g.chr22:39826029G>A	U49928	CCDS13992.1, CCDS13993.1	22q13.1	2010-02-05	2010-02-05	2010-02-05	ENSG00000100324	ENSG00000100324			18157	protein-coding gene	gene with protein product	"TAK1-binding protein 1", "mitogen-activated protein kinase kinase kinase 7 interacting protein 1"	602615	"mitogen-activated protein kinase kinase kinase 7 interacting protein 1"	MAP3K7IP1		8638164, 10187861	Standard	NM_153497		Approved		uc003axt.3	Q15750	OTTHUMG00000151102	ENST00000216160.6:c.1317G>A	22.37:g.39826029G>A						TAB1_ENST00000331454.3_Intron	p.P439P	NM_006116.2	NP_006107.1	Q15750	TAB1_HUMAN			11	1379	+			439					Q2PP09|Q8IZW2	Silent	SNP	ENST00000216160.6	37	c.1317G>A	CCDS13993.1																																																																																				0.662	TAB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321313.1	NM_153497		9	131	0	0	0	1	0	9	131					A	39826029	G	A	39826029	2	1	243	1	0	0	0	0	0	0	0	1	15492	1045	37	2		2	TAB1	22	39826029	Silent	SNP	G	TCGA-HC-A6AL-01A-11D-A30E-08	8849955	39826029	11478537	53	11456											
LMF2	91289	broad.mit.edu	37	chr22	50943380	50943380	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggccccggtccagaggcgccCgtgggtcccgggctccacgt	3	5	16	17	5	0	1	0	0	0	1	3	1	3	1	6	5	0	1	6	5	0	0			TCGA-HC-A6AL-01A-11D-A30E-08	TCGA-HC-A6AL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	737965eb-4771-4559-b50a-0a8a12278942	093d9856-cabb-4d96-8609-b309430a7078	g.chr22:50943380C>T	ENST00000474879.2	-	10	1303	c.1288G>A	c.(1288-1290)Ggg>Agg	p.G430R	LMF2_ENST00000505981.1_5'Flank|LMF2_ENST00000216080.5_Missense_Mutation_p.G405R|LMF2_ENST00000380796.3_Intron	NM_033200.2	NP_149977.2	Q9BU23	LMF2_HUMAN	lipase maturation factor 2	430						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(1)|cervix(1)|kidney(1)|lung(4)|prostate(1)|skin(2)	10		all_cancers(38;1.31e-09)|all_epithelial(38;1.81e-08)|all_lung(38;0.000817)|Breast(42;0.00387)|Lung NSC(38;0.0124)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		CAGAGGCGCCCGTGGGTCCCG	0.697																																						ENST00000216080.5																			0				breast(1)|cervix(1)|kidney(1)|lung(4)|prostate(1)|skin(2)	10						c.(1213-1215)Ggg>Agg		lipase maturation factor 2							14	17	16					22																	50943380		2177	4283	6460	SO:0001583	missense	91289					endoplasmic reticulum membrane|integral to membrane		g.chr22:50943380C>T	BC002942	CCDS14093.1, CCDS14093.2	22q13.33	2008-02-04	2007-11-29	2007-11-29	ENSG00000100258	ENSG00000100258			25096	protein-coding gene	gene with protein product			"transmembrane protein 153", "transmembrane protein 112B"	TMEM153, TMEM112B		12477932	Standard	NM_033200		Approved		uc003blp.2	Q9BU23	OTTHUMG00000150206	ENST00000474879.2:c.1288G>A	22.37:g.50943380C>T	ENSP00000424381:p.Gly430Arg					LMF2_ENST00000474879.2_Missense_Mutation_p.G430R|LMF2_ENST00000380796.3_Intron	p.G405R			Q9BU23	LMF2_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)	10	1381	-		all_cancers(38;1.31e-09)|all_epithelial(38;1.81e-08)|all_lung(38;0.000817)|Breast(42;0.00387)|Lung NSC(38;0.0124)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)	430					A6NEZ0|Q13392|Q6ZNR2|Q8WU74|Q96C62	Missense_Mutation	SNP	ENST00000474879.2	37	c.1213G>A	CCDS14093.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.58|13.58	2.280485|2.280485	0.40294|0.40294	.|.	.|.	ENSG00000100258|ENSG00000100258	ENST00000474879;ENST00000216080|ENST00000487499	T;T|.	0.22336|.	1.96;1.96|.	4.84|4.84	2.35|2.35	0.29111|0.29111	.|.	0.067926|.	0.64402|.	D|.	0.000019|.	T|T	0.46560|0.46560	0.1399|0.1399	M|M	0.62154|0.62154	1.92|1.92	0.24488|0.24488	N|N	0.99431|0.99431	B;P|.	0.35700|.	0.246;0.516|.	B;B|.	0.28991|.	0.097;0.063|.	T|T	0.33548|0.33548	-0.9864|-0.9864	10|5	0.72032|.	D|.	0.01|.	-1.1614|-1.1614	9.413|9.413	0.38503|0.38503	0.0:0.7867:0.0:0.2133|0.0:0.7867:0.0:0.2133	.|.	430;405|.	Q9BU23;Q9BU23-2|.	LMF2_HUMAN;.|.	R|Q	430;405|436	ENSP00000424381:G430R;ENSP00000216080:G405R|.	ENSP00000216080:G405R|.	G|R	-|-	1|2	0|0	LMF2|LMF2	49290246|49290246	0.002000|0.002000	0.14202|0.14202	0.704000|0.704000	0.30370|0.30370	0.600000|0.600000	0.36913|0.36913	0.096000|0.096000	0.15147|0.15147	1.023000|1.023000	0.39654|0.39654	0.650000|0.650000	0.86243|0.86243	GGG|CGG		0.697	LMF2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316833.2	NM_033200		10	14	0	0	0	1	0	10	14					T	50943380	C	T	50943380	3	4	243	1	0	0	0	0	1	0	0	0	8846	652	23	2	855	2	LMF2	22	50943380	Missense_Mutation	SNP	C	TCGA-HC-A6AL-01A-11D-A30E-08	11117351	50943380	361186	54	11457											
MED12	9968	broad.mit.edu	37	chrX	70348523	70348523	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	ctcggcagtgtttgctcctgGaagatctgattcgctgtgct	5	14	12	10	2	1	2	0	1	1	1	4	3	2	3	1	2	2	5	1	2	1	2			TCGA-HC-A6AL-01A-11D-A30E-08	TCGA-HC-A6AL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	737965eb-4771-4559-b50a-0a8a12278942	093d9856-cabb-4d96-8609-b309430a7078	g.chrX:70348523G>C	ENST00000374080.3	+	24	3462	c.3430G>C	c.(3430-3432)Gaa>Caa	p.E1144Q	MED12_ENST00000333646.6_Missense_Mutation_p.E1144Q|MED12_ENST00000374102.1_Missense_Mutation_p.E1144Q			Q93074	MED12_HUMAN	mediator complex subunit 12	1144					androgen receptor signaling pathway (GO:0030521)|axis elongation involved in somitogenesis (GO:0090245)|canonical Wnt signaling pathway (GO:0060070)|gene expression (GO:0010467)|heart development (GO:0007507)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|negative regulation of Wnt signaling pathway (GO:0030178)|neural tube closure (GO:0001843)|oligodendrocyte development (GO:0014003)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|Schwann cell development (GO:0014044)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein C-terminus binding (GO:0008022)|protein domain specific binding (GO:0019904)|receptor activity (GO:0004872)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II transcription cofactor activity (GO:0001104)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					TTTGCTCCTGGAAGATCTGAT	0.468			"M, S"		uterine leiomyoma		Opitz-Kaveggia Syndrome				OREG0019857	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000333646.6				Dom	yes		X	Xq13	9968	"M, S"	mediator complex subunit 12	Yes	Opitz-Kaveggia Syndrome	M			uterine leiomyoma		0				breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420						c.(3430-3432)Gaa>Caa		mediator complex subunit 12							117	100	106					X																	70348523		2083	4203	6286	SO:0001583	missense	9968				androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	g.chrX:70348523G>C	U80742	CCDS43970.1	Xq13	2011-02-14	2007-07-30	2004-11-26	ENSG00000184634	ENSG00000184634			11957	protein-coding gene	gene with protein product		300188	"trinucleotide repeat containing 11 (THR-associated protein, 230kDa subunit)", "mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)", "FG syndrome 1"	TNRC11, FGS1		9225980, 10198638, 17334363, 20507344	Standard	NM_005120		Approved	CAGH45, HOPA, OPA1, TRAP230, KIAA0192, OKS	uc004dyy.3	Q93074	OTTHUMG00000021788	ENST00000374080.3:c.3430G>C	X.37:g.70348523G>C	ENSP00000363193:p.Glu1144Gln		OREG0019857	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1121	MED12_ENST00000374080.3_Missense_Mutation_p.E1144Q|MED12_ENST00000374102.1_Missense_Mutation_p.E1144Q	p.E1144Q	NM_005120.2	NP_005111.2	Q93074	MED12_HUMAN			24	3629	+	Renal(35;0.156)		1144					O15410|O75557|Q9UHV6|Q9UND7	Missense_Mutation	SNP	ENST00000374080.3	37	c.3430G>C	CCDS43970.1	.	.	.	.	.	.	.	.	.	.	.	26.0	4.693767	0.88735	.	.	ENSG00000184634	ENST00000333646;ENST00000536756;ENST00000374102;ENST00000374080;ENST00000430072	T;T;T;T	0.42131	0.98;0.98;0.98;0.98	4.36	4.36	0.52297	.	0.000000	0.85682	D	0.000000	T	0.56761	0.2007	L	0.42245	1.32	0.58432	D	0.999999	D;P;P;D	0.89917	0.999;0.604;0.537;1.0	D;B;B;D	0.87578	0.998;0.369;0.437;0.997	T	0.57429	-0.7813	10	0.45353	T	0.12	-16.0318	16.5341	0.84368	0.0:0.0:1.0:0.0	.	1144;991;1144;1144	F5H3Y1;Q7Z3Z5;Q93074-3;Q93074	.;.;.;MED12_HUMAN	Q	1144;1144;1144;1144;1112	ENSP00000333125:E1144Q;ENSP00000363215:E1144Q;ENSP00000363193:E1144Q;ENSP00000414203:E1112Q	ENSP00000333125:E1144Q	E	+	1	0	MED12	70265248	1.000000	0.71417	0.967000	0.41034	0.990000	0.78478	8.986000	0.93492	2.161000	0.67846	0.600000	0.82982	GAA		0.468	MED12-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000057105.1	NM_005120		19	14	0	0	0	1	0	19	14					C	70348523	G	C	70348523	3	2	243	1	0	0	0	0	1	0	0	0	9428	1175	41	5	3524	5	MED12	23	70348523	Missense_Mutation	SNP	G	TCGA-HC-A6AL-01A-11D-A30E-08		70348523	84922037	55	11458											
GPR112	139378	broad.mit.edu	37	chrX	135428548	135428548	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctgatatagaaaagctaagtAccccattggataataaaact	18	10	6	7	0	0	2	0	1	0	1	0	3	0	3	2	1	3	2	2	1	9	7			TCGA-HC-A6AL-01A-11D-A30E-08	TCGA-HC-A6AL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	737965eb-4771-4559-b50a-0a8a12278942	093d9856-cabb-4d96-8609-b309430a7078	g.chrX:135428548A>G	ENST00000394143.1	+	6	2974	c.2683A>G	c.(2683-2685)Acc>Gcc	p.T895A	GPR112_ENST00000412101.1_Missense_Mutation_p.T690A|GPR112_ENST00000370652.1_Missense_Mutation_p.T895A|GPR112_ENST00000287534.4_Missense_Mutation_p.T832A|GPR112_ENST00000394141.1_Missense_Mutation_p.T690A	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	895					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					AAAGCTAAGTACCCCATTGGA	0.398																																						ENST00000394143.1																			0				NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199						c.(2683-2685)Acc>Gcc		G protein-coupled receptor 112							103	98	100					X																	135428548		2203	4299	6502	SO:0001583	missense	139378				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chrX:135428548A>G	AY140954	CCDS35409.1	Xq26.3	2014-08-08			ENSG00000156920	ENSG00000156920		"-", "GPCR / Class B : Orphans"	18992	protein-coding gene	gene with protein product						12435584	Standard	XM_005262367		Approved	RP1-299I16, PGR17	uc004ezu.1	Q8IZF6	OTTHUMG00000022508	ENST00000394143.1:c.2683A>G	X.37:g.135428548A>G	ENSP00000377699:p.Thr895Ala					GPR112_ENST00000287534.4_Missense_Mutation_p.T832A|GPR112_ENST00000412101.1_Missense_Mutation_p.T690A|GPR112_ENST00000394141.1_Missense_Mutation_p.T690A|GPR112_ENST00000370652.1_Missense_Mutation_p.T895A	p.T895A	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN			6	2974	+	Acute lymphoblastic leukemia(192;0.000127)		895					A2A2J1|A2A2J2|Q5EGP2|Q86SM6	Missense_Mutation	SNP	ENST00000394143.1	37	c.2683A>G	CCDS35409.1	.	.	.	.	.	.	.	.	.	.	A	9.736	1.163588	0.21538	.	.	ENSG00000156920	ENST00000394143;ENST00000370652;ENST00000412101;ENST00000287534;ENST00000394141	T;T;T;T;T	0.30182	1.57;1.57;1.54;1.67;1.54	3.1	-2.36	0.06663	.	.	.	.	.	T	0.21631	0.0521	L	0.32530	0.975	0.09310	N	1	P;B;P	0.36027	0.518;0.376;0.533	B;B;B	0.40375	0.327;0.058;0.131	T	0.27226	-1.0080	9	0.72032	D	0.01	.	3.2464	0.06798	0.3458:0.0:0.4327:0.2215	.	832;690;895	Q8IZF6-2;Q8IZF6-3;Q8IZF6	.;.;GP112_HUMAN	A	895;895;690;832;690	ENSP00000377699:T895A;ENSP00000359686:T895A;ENSP00000416526:T690A;ENSP00000287534:T832A;ENSP00000377697:T690A	ENSP00000287534:T832A	T	+	1	0	GPR112	135256214	0.000000	0.05858	0.000000	0.03702	0.258000	0.26162	-0.064000	0.11636	-0.483000	0.06772	0.235000	0.17854	ACC		0.398	GPR112-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000286639.1			71	34	0	0	0	1	0	71	34					G	135428548	A	G	135428548	3	3	243	1	0	0	0	0	1	0	0	0	6629	391	14	4	2693	4	GPR112	23	135428548	Missense_Mutation	SNP	A	TCGA-HC-A6AL-01A-11D-A30E-08	65080025	135428548	19842012	56	11459											
MFN2	9927	broad.mit.edu	37	chr1	12052706	12052706	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaagtgagaggcatcagtgaGgtgctggctcggaggcacat	11	7	16	7	1	1	2	1	2	0	1	2	4	1	3	0	5	1	4	0	5	1	0			TCGA-HC-A6AN-01A-11D-A30E-08	TCGA-HC-A6AN-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	046c8e49-c295-4b2f-ad1a-da6cb0958544	5318522e-d56a-4eb2-88ae-b76fcf183a78	g.chr1:12052706G>A	ENST00000235329.5	+	4	592	c.270G>A	c.(268-270)gaG>gaA	p.E90E	MFN2_ENST00000444836.1_Silent_p.E90E	NM_014874.3	NP_055689.1	O95140	MFN2_HUMAN	mitofusin 2	90					apoptotic process (GO:0006915)|autophagy (GO:0006914)|blastocyst formation (GO:0001825)|blood coagulation (GO:0007596)|camera-type eye morphogenesis (GO:0048593)|mitochondrial fusion (GO:0008053)|mitochondrial membrane organization (GO:0007006)|mitochondrion localization (GO:0051646)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of smooth muscle cell proliferation (GO:0048662)|protein localization to pre-autophagosomal structure (GO:0034497)|protein targeting to mitochondrion (GO:0006626)|response to unfolded protein (GO:0006986)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|intrinsic component of mitochondrial outer membrane (GO:0031306)|microtubule cytoskeleton (GO:0015630)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|ubiquitin protein ligase binding (GO:0031625)			endometrium(4)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(2)	20	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;7.25e-06)|COAD - Colon adenocarcinoma(227;0.000302)|BRCA - Breast invasive adenocarcinoma(304;0.000329)|Kidney(185;0.000896)|KIRC - Kidney renal clear cell carcinoma(229;0.00274)|STAD - Stomach adenocarcinoma(313;0.00773)|READ - Rectum adenocarcinoma(331;0.0656)		GCATCAGTGAGGTGCTGGCTC	0.532																																						ENST00000235329.5																			0				endometrium(4)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(2)	20						c.(268-270)gaG>gaA		mitofusin 2							247	223	231					1																	12052706		2203	4300	6503	SO:0001819	synonymous_variant	9927				blood coagulation|mitochondrial fusion|mitochondrial membrane organization|mitochondrion localization|negative regulation of Ras protein signal transduction|negative regulation of smooth muscle cell proliferation|protein targeting to mitochondrion	cytosol|integral to membrane|intrinsic to mitochondrial outer membrane	GTP binding|GTPase activity|ubiquitin protein ligase binding	g.chr1:12052706G>A	AF036536	CCDS30587.1	1p36.22	2014-09-17			ENSG00000116688	ENSG00000116688			16877	protein-coding gene	gene with protein product		608507				12499352, 11181170	Standard	NM_014874		Approved	CPRP1, KIAA0214, MARF, CMT2A2	uc009vni.3	O95140	OTTHUMG00000002392	ENST00000235329.5:c.270G>A	1.37:g.12052706G>A						MFN2_ENST00000444836.1_Silent_p.E90E	p.E90E	NM_014874.3	NP_055689.1	O95140	MFN2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;7.25e-06)|COAD - Colon adenocarcinoma(227;0.000302)|BRCA - Breast invasive adenocarcinoma(304;0.000329)|Kidney(185;0.000896)|KIRC - Kidney renal clear cell carcinoma(229;0.00274)|STAD - Stomach adenocarcinoma(313;0.00773)|READ - Rectum adenocarcinoma(331;0.0656)	4	592	+	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)	90					A8K1B3|O95572|Q5JXC3|Q5JXC4|Q9H131|Q9NSX8	Silent	SNP	ENST00000235329.5	37	c.270G>A	CCDS30587.1																																																																																				0.532	MFN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006859.2	NM_014874		96	280	0	0	0	1	0	96	280					A	12052706	G	A	12052706	2	1	244	1	0	0	0	0	0	0	0	1	9524	991	35	3		3	MFN2	1	12052706	Silent	SNP	G	TCGA-HC-A6AN-01A-11D-A30E-08		12052706	237197915	1	11460											
RAP1GAP	5909	broad.mit.edu	37	chr1	21926096	21926096	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgagcgcctctgctctctgcGctgcggtctccgctctgcca	2	11	11	17	4	4	1	0	1	4	0	6	1	4	1	3	1	5	3	3	1	0	0			TCGA-HC-A6AN-01A-11D-A30E-08	TCGA-HC-A6AN-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	046c8e49-c295-4b2f-ad1a-da6cb0958544	5318522e-d56a-4eb2-88ae-b76fcf183a78	g.chr1:21926096G>C	ENST00000374765.4	-	21	1867	c.1667C>G	c.(1666-1668)gCg>gGg	p.A556G	RAP1GAP_ENST00000374763.2_Missense_Mutation_p.A641G|RAP1GAP_ENST00000290101.4_Missense_Mutation_p.A620G|RAP1GAP_ENST00000374761.2_Missense_Mutation_p.A587G|RAP1GAP_ENST00000542643.2_Missense_Mutation_p.A582G	NM_002885.2	NP_002876.2	P47736	RPGP1_HUMAN	RAP1 GTPase activating protein	556					GTP catabolic process (GO:0006184)|positive regulation of Rap GTPase activity (GO:0032854)|regulation of Ras GTPase activity (GO:0032318)|signal transduction (GO:0007165)	cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|GTPase activity (GO:0003924)|protein homodimerization activity (GO:0042803)|Rap GTPase activator activity (GO:0046582)|Ras GTPase binding (GO:0017016)			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(2)|skin(1)	17		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.000861)|all_lung(284;0.000901)|Breast(348;0.012)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0192)|OV - Ovarian serous cystadenocarcinoma(117;2.3e-26)|COAD - Colon adenocarcinoma(152;1.59e-05)|GBM - Glioblastoma multiforme(114;2.7e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000354)|STAD - Stomach adenocarcinoma(196;0.00645)|KIRC - Kidney renal clear cell carcinoma(1967;0.00862)|READ - Rectum adenocarcinoma(331;0.0625)|Lung(427;0.146)		TGCTCTCTGCGCTGCGGTCTC	0.687																																						ENST00000542643.2																			0				breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(2)|skin(1)	17						c.(1744-1746)gCg>gGg		RAP1 GTPase activating protein							56	51	53					1																	21926096		2203	4300	6503	SO:0001583	missense	5909				regulation of Ras GTPase activity|signal transduction	cytosol|Golgi membrane|membrane fraction	GTPase activator activity|GTPase activity|protein homodimerization activity|Ras GTPase binding	g.chr1:21926096G>C	BC054490	CCDS218.1, CCDS53276.1, CCDS53277.1	1p36.1-p35	2009-09-14	2006-04-12	2006-04-12	ENSG00000076864	ENSG00000076864			9858	protein-coding gene	gene with protein product		600278	"RAP1, GTPase activating protein 1"	RAP1GA1		1904317	Standard	NM_001145657		Approved	KIAA0474, RAP1GAP1, RAP1GAPII	uc001bew.3	P47736	OTTHUMG00000007513	ENST00000374765.4:c.1667C>G	1.37:g.21926096G>C	ENSP00000363897:p.Ala556Gly					RAP1GAP_ENST00000374761.2_Missense_Mutation_p.A587G|RAP1GAP_ENST00000374763.2_Missense_Mutation_p.A641G|RAP1GAP_ENST00000374765.4_Missense_Mutation_p.A556G|RAP1GAP_ENST00000290101.4_Missense_Mutation_p.A620G	p.A582G	NM_001145657.1	NP_001139129.1	P47736	RPGP1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0192)|OV - Ovarian serous cystadenocarcinoma(117;2.3e-26)|COAD - Colon adenocarcinoma(152;1.59e-05)|GBM - Glioblastoma multiforme(114;2.7e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000354)|STAD - Stomach adenocarcinoma(196;0.00645)|KIRC - Kidney renal clear cell carcinoma(1967;0.00862)|READ - Rectum adenocarcinoma(331;0.0625)|Lung(427;0.146)	23	2047	-		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.000861)|all_lung(284;0.000901)|Breast(348;0.012)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)	556					J3QSS6|O75062|Q5T3S9|Q5T3T4|Q7Z5S8|Q9UQ51	Missense_Mutation	SNP	ENST00000374765.4	37	c.1745C>G	CCDS218.1	.	.	.	.	.	.	.	.	.	.	G	2.990	-0.208380	0.06180	.	.	ENSG00000076864	ENST00000290101;ENST00000374761;ENST00000542643;ENST00000374765;ENST00000374763;ENST00000374758	D;D;D;D	0.89343	-2.46;-2.46;-2.5;-2.46	3.92	3.0	0.34707	.	0.813117	0.10620	N	0.653381	T	0.81059	0.4744	L	0.34521	1.04	0.31308	N	0.687482	B;B;B;B	0.26512	0.0;0.028;0.151;0.094	B;B;B;B	0.30716	0.006;0.034;0.119;0.034	T	0.73852	-0.3852	10	0.22706	T	0.39	-16.1769	4.3453	0.11129	0.1171:0.0:0.6561:0.2268	.	582;556;586;556	P47736-2;P47736;P47736-3;Q7Z5S8	.;RPGP1_HUMAN;.;.	G	620;587;582;556;586;641	ENSP00000290101:A620G;ENSP00000363893:A587G;ENSP00000441661:A582G;ENSP00000363897:A556G	ENSP00000290101:A620G	A	-	2	0	RAP1GAP	21798683	0.958000	0.32768	0.833000	0.33012	0.076000	0.17211	2.278000	0.43426	2.208000	0.71279	0.561000	0.74099	GCG		0.687	RAP1GAP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000019759.2	NM_002885		19	47	0	0	0	1	0	19	47					C	21926096	G	C	21926096	3	2	244	1	0	0	0	0	1	0	0	0	13037	1087	38	5	340	5	RAP1GAP	1	21926096	Missense_Mutation	SNP	G	TCGA-HC-A6AN-01A-11D-A30E-08	9873390	21926096	227324525	2	11461											
MACF1	23499	broad.mit.edu	37	chr1	39920741	39920741	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aatcccgcagaacattgaccGagttaaagcccttatcgctg	12	9	8	12	3	0	2	0	1	0	1	2	3	1	2	3	0	2	3	3	0	5	3			TCGA-HC-A6AN-01A-11D-A30E-08	TCGA-HC-A6AN-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	046c8e49-c295-4b2f-ad1a-da6cb0958544	5318522e-d56a-4eb2-88ae-b76fcf183a78	g.chr1:39920741G>A	ENST00000372915.3	+	88	20831	c.20744G>A	c.(20743-20745)cGa>cAa	p.R6915Q	MACF1_ENST00000539005.1_Missense_Mutation_p.R4827Q|MACF1_ENST00000545844.1_Missense_Mutation_p.R4957Q|MACF1_ENST00000361689.2_Missense_Mutation_p.R4957Q|MACF1_ENST00000317713.7_Missense_Mutation_p.R4957Q|MACF1_ENST00000564288.1_Missense_Mutation_p.R7016Q|MACF1_ENST00000289893.4_Missense_Mutation_p.R5459Q|MACF1_ENST00000567887.1_Missense_Mutation_p.R7053Q			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	6915					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)	p.R4957Q(1)|p.R5459Q(1)		breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			AACATTGACCGAGTTAAAGCC	0.527																																						ENST00000564288.1																			2	Substitution - Missense(2)	p.R4957Q(1)|p.R5459Q(1)	skin(2)	breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203						c.(21046-21048)cGa>cAa		microtubule-actin crosslinking factor 1							135	116	122					1																	39920741		2203	4300	6503	SO:0001583	missense	23499				cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding	g.chr1:39920741G>A	AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"EF-hand domain containing"	13664	protein-coding gene	gene with protein product	"actin cross-linking factor", "620 kDa actin binding protein", "macrophin 1", "trabeculin-alpha", "actin cross-linking family protein 7"	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.20744G>A	1.37:g.39920741G>A	ENSP00000362006:p.Arg6915Gln					MACF1_ENST00000289893.4_Missense_Mutation_p.R5459Q|MACF1_ENST00000539005.1_Missense_Mutation_p.R4827Q|MACF1_ENST00000567887.1_Missense_Mutation_p.R7053Q|MACF1_ENST00000361689.2_Missense_Mutation_p.R4957Q|MACF1_ENST00000372915.3_Missense_Mutation_p.R6915Q|MACF1_ENST00000317713.7_Missense_Mutation_p.R4957Q|MACF1_ENST00000545844.1_Missense_Mutation_p.R4957Q	p.R7016Q			Q9UPN3	MACF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)		89	21824	+	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	6915					B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Missense_Mutation	SNP	ENST00000372915.3	37	c.21047G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.02|16.02	3.004591|3.004591	0.54254|0.54254	.|.	.|.	ENSG00000127603|ENSG00000127603	ENST00000360115|ENST00000545844;ENST00000372915;ENST00000361689;ENST00000317713;ENST00000539005;ENST00000289893	.|T;T;T;T;T;T	.|0.50277	.|1.4;1.4;1.4;0.75;1.4;1.4	5.63|5.63	4.71|4.71	0.59529|0.59529	.|.	.|0.161226	.|0.31279	.|N	.|0.007928	T|T	0.16128|0.16128	0.0388|0.0388	N|N	0.01109|0.01109	-1.01|-1.01	0.80722|0.80722	D|D	1|1	.|B;B	.|0.24823	.|0.112;0.019	.|B;B	.|0.21917	.|0.037;0.019	T|T	0.12167|0.12167	-1.0558|-1.0558	5|10	.|0.28530	.|T	.|0.3	.|.	5.3506|5.3506	0.16034|0.16034	0.2715:0.0:0.7285:0.0|0.2715:0.0:0.7285:0.0	.|.	.|6915;4957	.|Q9UPN3;F8W8Q1	.|MACF1_HUMAN;.	K|Q	59|4957;6915;4957;4957;4827;5459	.|ENSP00000439537:R4957Q;ENSP00000362006:R6915Q;ENSP00000354573:R4957Q;ENSP00000313438:R4957Q;ENSP00000444364:R4827Q;ENSP00000289893:R5459Q	.|ENSP00000289893:R5459Q	E|R	+|+	1|2	0|0	MACF1|MACF1	39693328|39693328	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.985000|0.985000	0.73830|0.73830	5.016000|5.016000	0.64041|0.64041	2.654000|2.654000	0.90174|0.90174	0.655000|0.655000	0.94253|0.94253	GAG|CGA		0.527	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1	NM_033044		9	68	0	0	0	1	0	9	68					A	39920741	G	A	39920741	3	1	244	1	0	0	0	0	1	0	0	0	9144	1058	37	2	21359	2	MACF1	1	39920741	Missense_Mutation	SNP	G	TCGA-HC-A6AN-01A-11D-A30E-08	17994645	39920741	209329880	3	11462											
KCNA3	3738	broad.mit.edu	37	chr1	111216384	111216384	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgctgtccattgccctgtcGttcggccagctcggtaccca	4	11	10	16	3	0	0	0	0	0	0	4	0	1	0	4	2	4	4	4	2	1	3			TCGA-HC-A6AN-01A-11D-A30E-08	TCGA-HC-A6AN-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	046c8e49-c295-4b2f-ad1a-da6cb0958544	5318522e-d56a-4eb2-88ae-b76fcf183a78	g.chr1:111216384G>A	ENST00000369769.2	-	1	1271	c.1048C>T	c.(1048-1050)Cga>Tga	p.R350*		NM_002232.3	NP_002223.3	P22001	KCNA3_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 3	350					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	membrane raft (GO:0045121)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|outward rectifier potassium channel activity (GO:0015271)|voltage-gated ion channel activity (GO:0005244)			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(7)|ovary(4)|pancreas(1)|prostate(3)|skin(1)	38		all_cancers(81;3.92e-06)|all_epithelial(167;1.28e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Lung(183;0.0235)|Colorectal(144;0.0306)|all cancers(265;0.0752)|Epithelial(280;0.0821)|COAD - Colon adenocarcinoma(174;0.132)|LUSC - Lung squamous cell carcinoma(189;0.133)	Dalfampridine(DB06637)	TTGCCCTGTCGTTCGGCCAGC	0.547																																						ENST00000369769.2																			0				endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(7)|ovary(4)|pancreas(1)|prostate(3)|skin(1)	38						c.(1048-1050)Cga>Tga		potassium voltage-gated channel, shaker-related subfamily, member 3							99	99	99					1																	111216384		2203	4300	6503	SO:0001587	stop_gained	3738					voltage-gated potassium channel complex	delayed rectifier potassium channel activity	g.chr1:111216384G>A	L23499	CCDS828.2	1p13.3	2012-07-05			ENSG00000177272	ENSG00000177272		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6221	protein-coding gene	gene with protein product		176263				2251283, 16382104	Standard	NM_002232		Approved	Kv1.3, MK3, HLK3, HPCN3	uc001dzv.1	P22001	OTTHUMG00000034493	ENST00000369769.2:c.1048C>T	1.37:g.111216384G>A	ENSP00000358784:p.Arg350*						p.R350*	NM_002232.3	NP_002223.3	P22001	KCNA3_HUMAN		Lung(183;0.0235)|Colorectal(144;0.0306)|all cancers(265;0.0752)|Epithelial(280;0.0821)|COAD - Colon adenocarcinoma(174;0.132)|LUSC - Lung squamous cell carcinoma(189;0.133)	1	1271	-		all_cancers(81;3.92e-06)|all_epithelial(167;1.28e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)	350					Q5VWN2	Nonsense_Mutation	SNP	ENST00000369769.2	37	c.1048C>T	CCDS828.2	.	.	.	.	.	.	.	.	.	.	G	37	6.378648	0.97520	.	.	ENSG00000177272	ENST00000369769	.	.	.	5.47	4.49	0.54785	.	0.134805	0.43579	U	0.000551	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.17369	T	0.5	.	16.8206	0.85745	0.0:0.0:0.8175:0.1825	.	.	.	.	X	350	.	ENSP00000358784:R350X	R	-	1	2	KCNA3	111017907	0.990000	0.36364	1.000000	0.80357	0.990000	0.78478	0.912000	0.28597	2.573000	0.86826	0.655000	0.94253	CGA		0.547	KCNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083391.1	NM_002232		53	117	0	0	0	1	0	53	117					A	111216384	G	A	111216384	4	1	244	1	0	0	0	0	0	1	0	0	8004	1153	40	1	683	1	KCNA3	1	111216384	Nonsense_Mutation	SNP	G	TCGA-HC-A6AN-01A-11D-A30E-08	71295643	111216384	138034237	4	11463											
ANKRD35	148741	broad.mit.edu	37	chr1	145561391	145561391	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agcttcaggaaagcaaggctCtagtctccggcctggagggg	9	7	15	10	1	3	0	1	0	2	0	4	2	3	2	2	6	2	3	2	6	3	2			TCGA-HC-A6AN-01A-11D-A30E-08	TCGA-HC-A6AN-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	046c8e49-c295-4b2f-ad1a-da6cb0958544	5318522e-d56a-4eb2-88ae-b76fcf183a78	g.chr1:145561391C>T	ENST00000355594.4	+	10	1166	c.1079C>T	c.(1078-1080)tCt>tTt	p.S360F		NM_144698.3	NP_653299.4	Q8N283	ANR35_HUMAN	ankyrin repeat domain 35	360										NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(16)|ovary(4)|prostate(3)|skin(2)|urinary_tract(1)	47	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					AAGCAAGGCTCTAGTCTCCGG	0.592																																					Melanoma(9;127 754 22988 51047)	ENST00000355594.4																			0				NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(16)|ovary(4)|prostate(3)|skin(2)|urinary_tract(1)	47						c.(1078-1080)tCt>tTt		ankyrin repeat domain 35							37	38	38					1																	145561391		2203	4300	6503	SO:0001583	missense	148741							g.chr1:145561391C>T	AK091120	CCDS72867.1, CCDS72868.1	1q21.1	2013-01-10			ENSG00000198483	ENSG00000198483		"Ankyrin repeat domain containing"	26323	protein-coding gene	gene with protein product							Standard	NM_144698		Approved	FLJ25124	uc001eob.1	Q8N283	OTTHUMG00000013743	ENST00000355594.4:c.1079C>T	1.37:g.145561391C>T	ENSP00000347802:p.Ser360Phe						p.S360F	NM_144698.3	NP_653299.3	Q8N283	ANR35_HUMAN			10	1166	+	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		360					A6NEU0|B4DL62|Q3MJ10|Q96LS3	Missense_Mutation	SNP	ENST00000355594.4	37	c.1079C>T	CCDS919.1	.	.	.	.	.	.	.	.	.	.	C	12.15	1.852275	0.32699	.	.	ENSG00000198483	ENST00000453670;ENST00000355594	T	0.67523	-0.27	6.07	3.05	0.35203	.	1.044410	0.07537	N	0.913128	T	0.39410	0.1077	L	0.51422	1.61	0.09310	N	1	P	0.38642	0.641	B	0.32289	0.143	T	0.34625	-0.9821	10	0.54805	T	0.06	0.04	8.482	0.33049	0.0:0.6299:0.2905:0.0796	.	360	Q8N283	ANR35_HUMAN	F	269;360	ENSP00000347802:S360F	ENSP00000347802:S360F	S	+	2	0	ANKRD35	144272748	0.000000	0.05858	0.001000	0.08648	0.535000	0.34838	-0.016000	0.12613	0.819000	0.34492	0.655000	0.94253	TCT		0.592	ANKRD35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038515.1	NM_144698		22	40	0	0	0	1	0	22	40					T	145561391	C	T	145561391	3	4	244	1	0	0	0	0	1	0	0	0	664	913	32	3	1117	3	ANKRD35	1	145561391	Missense_Mutation	SNP	C	TCGA-HC-A6AN-01A-11D-A30E-08	34345007	145561391	103689230	5	11464											
GON4L	54856	broad.mit.edu	37	chr1	155734751	155734751	+	Intron	DEL	T	T	-																															caataagtgatacatattacTgagtccacgaaatacttgag																										TCGA-HC-A6AN-01A-11D-A30E-08	TCGA-HC-A6AN-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	046c8e49-c295-4b2f-ad1a-da6cb0958544	5318522e-d56a-4eb2-88ae-b76fcf183a78	g.chr1:155734751delT	ENST00000368331.1	-	21	4522				GON4L_ENST00000271883.5_Intron|GON4L_ENST00000361040.5_Frame_Shift_Del_p.S1505fs|GON4L_ENST00000437809.1_Intron|GON4L_ENST00000471341.1_5'UTR	NM_001282858.1|NM_001282860.1	NP_001269787.1|NP_001269789.1	Q3T8J9	GON4L_HUMAN	gon-4-like (C. elegans)						regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	45	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)					TACATATTACTGAGTCCACGA	0.398																																						ENST00000361040.5																			0				NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	45						c.(4513-4515)gtfs		gon-4-like (C. elegans)							83	75	78					1																	155734751		2203	4300	6503	SO:0001627	intron_variant	54856				regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding	g.chr1:155734751delT	AB046826	CCDS1121.1, CCDS44242.1, CCDS60296.1	1q22	2013-10-31	2006-11-08	2006-02-16	ENSG00000116580	ENSG00000116580			25973	protein-coding gene	gene with protein product		610393	"gon-4 homolog (C.elegans)"	GON4		16545939, 21454521	Standard	XM_005245283		Approved	FLJ20203, GON-4	uc001fly.1	Q3T8J9	OTTHUMG00000014106	ENST00000368331.1:c.4473+39A>-	1.37:g.155734751delT						GON4L_ENST00000471341.1_5'UTR|GON4L_ENST00000368331.1_Intron|GON4L_ENST00000437809.1_Intron|GON4L_ENST00000271883.5_Intron	p.S1505fs	NM_032292.4	NP_115668.4	Q3T8J9	GON4L_HUMAN			21	4584	-	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)		0			Glu-rich.		B7ZBL4|Q14C93|Q3T8J8|Q5VYZ5|Q5W0D5|Q6AWA6|Q6P1Q6|Q7Z3L3|Q8IY79|Q9BQI1|Q9HCG6	Frame_Shift_Del	DEL	ENST00000368331.1	37	c.4513delA																																																																																					0.398	GON4L-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_032292		27	60						27	60	---	---	---	---	-	155734751	T	-	155734751	6	5	244	0	1	1	0	1	0	0	0	0	6572	1580	55	0		0	GON4L	1	155734751	Intron	DEL	T	TCGA-HC-A6AN-01A-11D-A30E-08	10173360	155734751	93515870	6	11465											
TROVE2	6738	broad.mit.edu	37	chr1	193046080	193046080	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcatattttgatcgcattagAaacttacaagacaggtcatg	14	13	7	7	1	2	3	2	1	0	2	3	3	2	3	0	1	2	1	0	1	5	5			TCGA-HC-A6AN-01A-11D-A30E-08	TCGA-HC-A6AN-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	046c8e49-c295-4b2f-ad1a-da6cb0958544	5318522e-d56a-4eb2-88ae-b76fcf183a78	g.chr1:193046080A>G	ENST00000367446.3	+	5	1196	c.986A>G	c.(985-987)gAa>gGa	p.E329G	TROVE2_ENST00000367441.1_Missense_Mutation_p.E329G|TROVE2_ENST00000432079.1_Missense_Mutation_p.E54G|TROVE2_ENST00000416058.2_Missense_Mutation_p.E54G|TROVE2_ENST00000460715.2_3'UTR|TROVE2_ENST00000367443.1_Missense_Mutation_p.E329G|TROVE2_ENST00000367445.3_Missense_Mutation_p.E329G|TROVE2_ENST00000367444.3_Missense_Mutation_p.E329G|TROVE2_ENST00000400968.2_Missense_Mutation_p.E329G	NM_004600.5	NP_004591.2	P10155	RO60_HUMAN	TROVE domain family, member 2	329	TROVE. {ECO:0000255|PROSITE- ProRule:PRU00343}.				cilium morphogenesis (GO:0060271)|immune system development (GO:0002520)|response to UV (GO:0009411)|smoothened signaling pathway (GO:0007224)|transcription from RNA polymerase III promoter (GO:0006383)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	metal ion binding (GO:0046872)|RNA binding (GO:0003723)|U2 snRNA binding (GO:0030620)			biliary_tract(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|urinary_tract(1)	21						ATCGCATTAGAAACTTACAAG	0.338																																						ENST00000432079.1																			0				biliary_tract(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|urinary_tract(1)	21						c.(160-162)gAa>gGa		TROVE domain family, member 2							94	85	88					1																	193046080		1876	4098	5974	SO:0001583	missense	6738				transcription from RNA polymerase III promoter	cytoplasm|nucleus|ribonucleoprotein complex	protein binding|RNA binding	g.chr1:193046080A>G	BC036658	CCDS41449.1, CCDS1379.1, CCDS41450.1, CCDS41450.2, CCDS53451.1	1q31	2014-08-06	2005-06-14	2005-06-14	ENSG00000116747	ENSG00000116747			11313	protein-coding gene	gene with protein product		600063	"Sjogren syndrome antigen A2 (60kDa, ribonucleoprotein autoantigen SS-A/Ro)"	SSA2		8188321	Standard	NM_001042369		Approved	Ro60	uc001gss.3	P10155	OTTHUMG00000035675	ENST00000367446.3:c.986A>G	1.37:g.193046080A>G	ENSP00000356416:p.Glu329Gly					TROVE2_ENST00000367441.1_Missense_Mutation_p.E329G|TROVE2_ENST00000367446.3_Missense_Mutation_p.E329G|TROVE2_ENST00000367445.3_Missense_Mutation_p.E329G|TROVE2_ENST00000367443.1_Missense_Mutation_p.E329G|TROVE2_ENST00000367444.3_Missense_Mutation_p.E329G|TROVE2_ENST00000416058.2_Missense_Mutation_p.E54G|TROVE2_ENST00000460715.2_3'UTR|TROVE2_ENST00000400968.2_Missense_Mutation_p.E329G	p.E54G			P10155	RO60_HUMAN			4	729	+			329			TROVE.		B2RBB9|Q5LJ98|Q5LJ99|Q5LJA0|Q86WL3|Q86WL4|Q92787|Q9H1W6	Missense_Mutation	SNP	ENST00000367446.3	37	c.161A>G	CCDS1379.1	.	.	.	.	.	.	.	.	.	.	A	24.1	4.494404	0.85069	.	.	ENSG00000116747	ENST00000400968;ENST00000416058;ENST00000367446;ENST00000367443;ENST00000367445;ENST00000367444;ENST00000367441	T;T;T;T;T;T;T	0.16196	2.36;2.36;2.36;2.36;2.36;2.36;2.36	5.81	5.81	0.92471	TROVE (2);	0.045776	0.85682	D	0.000000	T	0.19087	0.0458	M	0.62723	1.935	0.58432	D	0.999997	B;B;P;P	0.45176	0.346;0.346;0.574;0.852	B;B;B;B	0.36335	0.125;0.125;0.209;0.222	T	0.03240	-1.1057	10	0.30854	T	0.27	-19.7425	16.2155	0.82211	1.0:0.0:0.0:0.0	.	329;329;329;329	Q5LJ99;Q5LJ98;Q5LJA0;P10155	.;.;.;RO60_HUMAN	G	329;54;329;329;329;329;329	ENSP00000383752:E329G;ENSP00000411421:E54G;ENSP00000356416:E329G;ENSP00000356413:E329G;ENSP00000356415:E329G;ENSP00000356414:E329G;ENSP00000356411:E329G	ENSP00000356411:E329G	E	+	2	0	TROVE2	191312703	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.538000	0.82048	2.234000	0.73211	0.524000	0.50904	GAA		0.338	TROVE2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000086688.1	NM_004600		10	22	0	0	0	1	0	10	22					G	193046080	A	G	193046080	3	3	244	1	0	0	0	0	1	0	0	0	16573	246	9	4	1000	4	TROVE2	1	193046080	Missense_Mutation	SNP	A	TCGA-HC-A6AN-01A-11D-A30E-08	37311329	193046080	56204541	7	11466											
TNS1	7145	broad.mit.edu	37	chr2	218683436	218683436	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aggctgggtgggcgtccgggGaccctggtcactgctctctc	3	9	16	13	2	2	0	1	0	1	0	5	1	3	1	2	6	1	2	2	6	0	0			TCGA-HC-A6AN-01A-11D-A30E-08	TCGA-HC-A6AN-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	046c8e49-c295-4b2f-ad1a-da6cb0958544	5318522e-d56a-4eb2-88ae-b76fcf183a78	g.chr2:218683436G>T	ENST00000171887.4	-	24	3759	c.3307C>A	c.(3307-3309)Ccc>Acc	p.P1103T	TNS1_ENST00000419504.1_Missense_Mutation_p.P1090T|TNS1_ENST00000430930.1_Missense_Mutation_p.P1082T	NM_022648.4	NP_072174.3	Q9HBL0	TENS1_HUMAN	tensin 1	1103	Ser-rich.				cell-substrate junction assembly (GO:0007044)|fibroblast migration (GO:0010761)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)	poly(A) RNA binding (GO:0044822)			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(23)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	79		Renal(207;0.0483)|Lung NSC(271;0.213)		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)		GGCGTCCGGGGACCCTGGTCA	0.617																																						ENST00000171887.4																			0				breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(23)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	79						c.(3307-3309)Ccc>Acc		tensin 1							31	35	34					2																	218683436		2203	4300	6503	SO:0001583	missense	7145					cytoplasm|cytoskeleton|focal adhesion	actin binding	g.chr2:218683436G>T	AB209238	CCDS2407.1	2q35-q36	2014-06-13	2005-05-13	2005-05-13	ENSG00000079308	ENSG00000079308		"Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs", "SH2 domain containing"	11973	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 155"	600076	"tensin", "matrix-remodelling associated 6"	TNS, MXRA6			Standard	NM_022648		Approved	DKFZp586K0617, PPP1R155	uc002vgt.2	Q9HBL0	OTTHUMG00000133056	ENST00000171887.4:c.3307C>A	2.37:g.218683436G>T	ENSP00000171887:p.Pro1103Thr					TNS1_ENST00000419504.1_Missense_Mutation_p.P1090T|TNS1_ENST00000430930.1_Missense_Mutation_p.P1082T	p.P1103T	NM_022648.4	NP_072174.3	Q9HBL0	TENS1_HUMAN		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)	24	3759	-		Renal(207;0.0483)|Lung NSC(271;0.213)	1103			Ser-rich.		Q4ZG71|Q6IPI5	Missense_Mutation	SNP	ENST00000171887.4	37	c.3307C>A	CCDS2407.1	.	.	.	.	.	.	.	.	.	.	G	7.016	0.557757	0.13436	.	.	ENSG00000079308	ENST00000171887;ENST00000446688;ENST00000419504;ENST00000430930	D;T;D;D	0.91011	-2.77;2.27;-2.76;-2.77	5.27	4.38	0.52667	.	0.615665	0.16554	N	0.209341	T	0.81721	0.4882	N	0.14661	0.345	0.34594	D	0.715792	B;B;B	0.09022	0.001;0.001;0.002	B;B;B	0.06405	0.001;0.002;0.002	T	0.79776	-0.1661	10	0.37606	T	0.19	.	10.5207	0.44918	0.0:0.121:0.6916:0.1874	.	1103;1082;1090	Q9HBL0;E9PGF5;E9PF55	TENS1_HUMAN;.;.	T	1103;241;1090;1082	ENSP00000171887:P1103T;ENSP00000394171:P241T;ENSP00000408724:P1090T;ENSP00000406016:P1082T	ENSP00000171887:P1103T	P	-	1	0	TNS1	218391681	0.960000	0.32886	0.987000	0.45799	0.627000	0.37826	1.222000	0.32515	1.214000	0.43395	0.655000	0.94253	CCC		0.617	TNS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256672.2	NM_022648		5	73	1	0	0.014758	1	0.014758	5	73					T	218683436	G	T	218683436	3	4	244	1	0	0	0	0	1	0	0	0	16340	1174	41	5	1940	5	TNS1	2	218683436	Missense_Mutation	SNP	G	TCGA-HC-A6AN-01A-11D-A30E-08		218683436	24515937	8	11467											
FARSB	10056	broad.mit.edu	37	chr2	223499164	223499164	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccttggtcttatttagaggCttgaatttgatatctgaagg	9	17	10	5	0	2	4	0	3	2	1	3	4	3	4	1	3	0	1	1	3	5	7			TCGA-HC-A6AN-01A-11D-A30E-08	TCGA-HC-A6AN-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	046c8e49-c295-4b2f-ad1a-da6cb0958544	5318522e-d56a-4eb2-88ae-b76fcf183a78	g.chr2:223499164C>T	ENST00000281828.6	-	6	815	c.552G>A	c.(550-552)aaG>aaA	p.K184K	FARSB_ENST00000536361.1_Silent_p.K85K	NM_005687.3	NP_005678.3	Q9NSD9	SYFB_HUMAN	phenylalanyl-tRNA synthetase, beta subunit	184					gene expression (GO:0010467)|phenylalanyl-tRNA aminoacylation (GO:0006432)|translation (GO:0006412)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|phenylalanine-tRNA ligase activity (GO:0004826)|RNA binding (GO:0003723)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	24		Renal(207;0.0183)		Epithelial(121;3.47e-10)|all cancers(144;1.86e-07)|LUSC - Lung squamous cell carcinoma(224;0.00871)|Lung(261;0.011)	L-Phenylalanine(DB00120)	TATTTAGAGGCTTGAATTTGA	0.383																																						ENST00000281828.6																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	24						c.(550-552)aaG>aaA		phenylalanyl-tRNA synthetase, beta subunit	L-Phenylalanine(DB00120)						104	102	102					2																	223499164		2203	4300	6503	SO:0001819	synonymous_variant	10056				phenylalanyl-tRNA aminoacylation	cytosol|soluble fraction	ATP binding|magnesium ion binding|phenylalanine-tRNA ligase activity|RNA binding	g.chr2:223499164C>T	AF042346	CCDS2454.1	2q36.2	2011-07-01	2007-02-23	2007-02-23	ENSG00000116120	ENSG00000116120	6.1.1.20	"Aminoacyl tRNA synthetases / Class II"	17800	protein-coding gene	gene with protein product	"phenylalanine tRNA ligase 1, beta, cytoplasmic"	609690	"phenylalanyl-tRNA synthetase-like, beta subunit"	FARSLB		10049785	Standard	NM_005687		Approved	PheHB, FRSB	uc002vne.1	Q9NSD9	OTTHUMG00000133155	ENST00000281828.6:c.552G>A	2.37:g.223499164C>T						FARSB_ENST00000536361.1_Silent_p.K85K	p.K184K	NM_005687.3	NP_005678.3	Q9NSD9	SYFB_HUMAN		Epithelial(121;3.47e-10)|all cancers(144;1.86e-07)|LUSC - Lung squamous cell carcinoma(224;0.00871)|Lung(261;0.011)	6	815	-		Renal(207;0.0183)	184					B4DFM0|O95708|Q4ZFX1|Q57ZJ5|Q9NZZ6	Silent	SNP	ENST00000281828.6	37	c.552G>A	CCDS2454.1																																																																																				0.383	FARSB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256855.2	NM_005687		17	62	0	0	0	1	0	17	62					T	223499164	C	T	223499164	2	4	244	1	0	0	0	0	0	0	0	1	5680	796	28	3		3	FARSB	2	223499164	Silent	SNP	C	TCGA-HC-A6AN-01A-11D-A30E-08	4815728	223499164	19700209	9	11468											
ATG16L1	55054	broad.mit.edu	37	chr2	234178654	234178654	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ttttttcccaacaggaggcgGcaagcccggctgcagaaaga	11	7	12	11	2	0	2	0	0	0	2	1	3	1	3	2	4	3	3	2	4	3	3			TCGA-HC-A6AN-01A-11D-A30E-08	TCGA-HC-A6AN-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	046c8e49-c295-4b2f-ad1a-da6cb0958544	5318522e-d56a-4eb2-88ae-b76fcf183a78	g.chr2:234178654G>A	ENST00000392017.4	+	6	905	c.648G>A	c.(646-648)cgG>cgA	p.R216R	ATG16L1_ENST00000392018.1_Silent_p.R216R|ATG16L1_ENST00000498620.1_3'UTR|ATG16L1_ENST00000392020.4_Silent_p.R216R|ATG16L1_ENST00000373525.5_Silent_p.R72R|ATG16L1_ENST00000347464.5_Silent_p.R72R	NM_001190266.1|NM_001190267.1|NM_030803.6	NP_001177195.1|NP_001177196.1|NP_110430.5	Q676U5	A16L1_HUMAN	autophagy related 16-like 1 (S. cerevisiae)	216	WIPI2-binding. {ECO:0000269|PubMed:24954904}.				autophagic vacuole assembly (GO:0000045)|negative stranded viral RNA replication (GO:0039689)|protein homooligomerization (GO:0051260)|protein transport (GO:0015031)	autophagic vacuole (GO:0005776)|autophagic vacuole membrane (GO:0000421)|axoneme (GO:0005930)	identical protein binding (GO:0042802)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(7)|prostate(3)|skin(1)	25		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.0539)		Epithelial(121;1.53e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000379)|LUSC - Lung squamous cell carcinoma(224;0.00619)|Lung(119;0.00732)|GBM - Glioblastoma multiforme(43;0.11)		ACAGGAGGCGGCAAGCCCGGC	0.433																																						ENST00000392017.4																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(7)|prostate(3)|skin(1)	25						c.(646-648)cgG>cgA		autophagy related 16-like 1 (S. cerevisiae)							69	82	78					2																	234178654		2203	4300	6503	SO:0001819	synonymous_variant	55054				autophagic vacuole assembly|protein homooligomerization|protein transport	autophagic vacuole|pre-autophagosomal structure membrane	protein binding	g.chr2:234178654G>A	AK000897	CCDS2502.2, CCDS2503.2, CCDS54438.1	2q37.1	2014-02-12	2012-06-06	2005-09-13	ENSG00000085978	ENSG00000085978		"WD repeat domain containing"	21498	protein-coding gene	gene with protein product		610767	"APG16 autophagy 16-like (S. cerevisiae)", "ATG16 autophagy related 16-like (S. cerevisiae)", "ATG16 autophagy related 16-like 1 (S. cerevisiae)"	APG16L, ATG16L			Standard	NM_017974		Approved	WDR30, FLJ10035, ATG16A	uc002vty.3	Q676U5	OTTHUMG00000133619	ENST00000392017.4:c.648G>A	2.37:g.234178654G>A						ATG16L1_ENST00000498620.1_3'UTR|ATG16L1_ENST00000347464.5_Silent_p.R72R|ATG16L1_ENST00000392018.1_Silent_p.R216R|ATG16L1_ENST00000373525.5_Silent_p.R72R|ATG16L1_ENST00000392020.4_Silent_p.R216R	p.R216R	NM_001190266.1|NM_001190267.1|NM_030803.6	NP_001177195.1|NP_001177196.1|NP_110430.5	Q676U5	A16L1_HUMAN		Epithelial(121;1.53e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000379)|LUSC - Lung squamous cell carcinoma(224;0.00619)|Lung(119;0.00732)|GBM - Glioblastoma multiforme(43;0.11)	6	905	+		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.0539)	216					A3EXK9|A3EXL0|B6ZDH0|Q6IPN1|Q6UXW4|Q6ZVZ5|Q8NCY2|Q96JV5|Q9H619	Silent	SNP	ENST00000392017.4	37	c.648G>A	CCDS2503.2																																																																																				0.433	ATG16L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257069.2	NM_017974		4	116	0	0	0	1	0	4	116					A	234178654	G	A	234178654	2	1	244	1	0	0	0	0	0	0	0	1	1091	1190	42	3		3	ATG16L1	2	234178654	Silent	SNP	G	TCGA-HC-A6AN-01A-11D-A30E-08	10679490	234178654	9020719	10	11469											
COL6A3	1293	broad.mit.edu	37	chr2	238275374	238275374	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggcaaagggtttcatgcatcGcatcatgcaaagtttccaaa	13	10	9	9	1	2	0	2	0	0	0	4	0	3	0	1	2	2	6	1	2	3	2			TCGA-HC-A6AN-01A-11D-A30E-08	TCGA-HC-A6AN-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	046c8e49-c295-4b2f-ad1a-da6cb0958544	5318522e-d56a-4eb2-88ae-b76fcf183a78	g.chr2:238275374G>A	ENST00000295550.4	-	11	5908	c.5456C>T	c.(5455-5457)gCg>gTg	p.A1819V	COL6A3_ENST00000353578.4_Missense_Mutation_p.A1613V|COL6A3_ENST00000409809.1_Missense_Mutation_p.A1613V|COL6A3_ENST00000472056.1_Missense_Mutation_p.A1212V|COL6A3_ENST00000347401.3_Missense_Mutation_p.A1618V|COL6A3_ENST00000346358.4_Missense_Mutation_p.A1619V	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	1819	Nonhelical region.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|response to glucose (GO:0009749)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		TTCATGCATCGCATCATGCAA	0.498																																						ENST00000295550.4																			0				breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217						c.(5455-5457)gCg>gTg		collagen, type VI, alpha 3							128	117	120					2																	238275374		2203	4300	6503	SO:0001583	missense	1293				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity	g.chr2:238275374G>A	X52022	CCDS33409.1, CCDS33410.1, CCDS33411.1, CCDS33412.1, CCDS33410.2, CCDS33411.2, CCDS54439.1	2q37	2014-09-17			ENSG00000163359	ENSG00000163359		"Collagens"	2213	protein-coding gene	gene with protein product		120250				1339440, 11992252	Standard	NM_004369		Approved		uc002vwl.2	P12111	OTTHUMG00000150020	ENST00000295550.4:c.5456C>T	2.37:g.238275374G>A	ENSP00000295550:p.Ala1819Val					COL6A3_ENST00000346358.4_Missense_Mutation_p.A1619V|COL6A3_ENST00000409809.1_Missense_Mutation_p.A1613V|COL6A3_ENST00000472056.1_Missense_Mutation_p.A1212V|COL6A3_ENST00000347401.3_Missense_Mutation_p.A1618V|COL6A3_ENST00000353578.4_Missense_Mutation_p.A1613V	p.A1819V	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)	11	5908	-		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)	1819			Nonhelical region.		A8MT30|B4E3U5|B7ZMJ7|E9PFQ6|E9PGQ9|Q16501|Q53QF4|Q53QF6	Missense_Mutation	SNP	ENST00000295550.4	37	c.5456C>T	CCDS33412.1	.	.	.	.	.	.	.	.	.	.	G	10.14	1.268852	0.23136	.	.	ENSG00000163359	ENST00000295550;ENST00000347401;ENST00000353578;ENST00000472056;ENST00000409809;ENST00000346358	D;D;D;D;D;D	0.88509	-2.39;-2.37;-2.37;-2.39;-2.37;-2.35	5.19	5.19	0.71726	.	0.000000	0.53938	D	0.000046	D	0.89781	0.6814	M	0.72118	2.19	0.43207	D	0.995069	D;D;P	0.61080	0.989;0.988;0.462	P;P;B	0.49528	0.54;0.614;0.018	D	0.88375	0.2997	10	0.30854	T	0.27	.	13.0908	0.59166	0.0767:0.0:0.9233:0.0	.	1212;1613;1819	E9PFQ6;P12111-2;P12111	.;.;CO6A3_HUMAN	V	1819;1618;1613;1212;1613;1619	ENSP00000295550:A1819V;ENSP00000315609:A1618V;ENSP00000315873:A1613V;ENSP00000418285:A1212V;ENSP00000386844:A1613V;ENSP00000295546:A1619V	ENSP00000295550:A1819V	A	-	2	0	COL6A3	237940113	1.000000	0.71417	0.079000	0.20413	0.093000	0.18481	3.434000	0.52841	2.416000	0.81992	0.655000	0.94253	GCG		0.498	COL6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315790.2	NM_004369		60	131	0	0	0	1	0	60	131					A	238275374	G	A	238275374	3	1	244	1	0	0	0	0	1	0	0	0	3701	1087	38	1	4213	1	COL6A3	2	238275374	Missense_Mutation	SNP	G	TCGA-HC-A6AN-01A-11D-A30E-08	4096720	238275374	4923999	11	11470											
ZBTB47	92999	broad.mit.edu	37	chr3	42704607	42704607	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagcactcaggggagaagccGttcagatgtgaggtgagctt	10	8	15	8	1	2	4	2	2	0	2	2	5	2	4	1	3	3	3	1	3	1	2	rs374607271		TCGA-HC-A6AN-01A-11D-A30E-08	TCGA-HC-A6AN-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	046c8e49-c295-4b2f-ad1a-da6cb0958544	5318522e-d56a-4eb2-88ae-b76fcf183a78	g.chr3:42704607G>A	ENST00000232974.6	+	4	2006	c.1725G>A	c.(1723-1725)ccG>ccA	p.P575P	ZBTB47_ENST00000505904.1_Silent_p.P121P|ZBTB47_ENST00000457842.3_Silent_p.P199P			Q9UFB7	ZBT47_HUMAN	zinc finger and BTB domain containing 47	575					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			autonomic_ganglia(1)|breast(2)|endometrium(4)|large_intestine(2)|lung(3)|ovary(1)	13				KIRC - Kidney renal clear cell carcinoma(284;0.216)		GGGAGAAGCCGTTCAGATGTG	0.602																																						ENST00000457842.3																			0				autonomic_ganglia(1)|breast(2)|endometrium(4)|large_intestine(2)|lung(3)|ovary(1)	13						c.(595-597)ccG>ccA		zinc finger and BTB domain containing 47		G		1,4311		0,1,2155	83	93	90		1725	-6.4	0.9	3		90	0,8558		0,0,4279	no	coding-synonymous	ZBTB47	NM_145166.3		0,1,6434	AA,AG,GG		0.0,0.0232,0.0078		575/748	42704607	1,12869	2156	4279	6435	SO:0001819	synonymous_variant	92999				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr3:42704607G>A	AB033016	CCDS46805.1, CCDS46805.2	3p22.1	2013-01-08	2006-09-19	2006-09-19	ENSG00000114853	ENSG00000114853		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	26955	protein-coding gene	gene with protein product			"zinc finger protein 651"	ZNF651		10574461	Standard	NM_145166		Approved	KIAA1190, DKFZp434N0615	uc003clu.2	Q9UFB7	OTTHUMG00000156207	ENST00000232974.6:c.1725G>A	3.37:g.42704607G>A						ZBTB47_ENST00000232974.6_Silent_p.P575P|ZBTB47_ENST00000505904.1_Silent_p.P121P	p.P199P	NM_145166.3	NP_660149.2	Q9UFB7	ZBT47_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.216)	4	2006	+			199					H7BXD3|Q6ZSY6|Q8WTY8|Q9ULN0	Silent	SNP	ENST00000232974.6	37	c.597G>A	CCDS46805.2																																																																																				0.602	ZBTB47-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343485.3	NM_145166		6	118	0	0	0	1	0	6	118					A	42704607	G	A	42704607	2	1	244	1	0	0	0	0	0	0	0	1	17545	1132	40	1		1	ZBTB47	3	42704607	Silent	SNP	G	TCGA-HC-A6AN-01A-11D-A30E-08		42704607	155317823	12	11471											
FOXP1	27086	broad.mit.edu	37	chr3	71050125	71050126	+	In_Frame_Ins	INS	-	-	TAGCTC																															aataaatgtggttttacctgINStagctctaactgctgtacaa																										TCGA-HC-A6AN-01A-11D-A30E-08	TCGA-HC-A6AN-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	046c8e49-c295-4b2f-ad1a-da6cb0958544	5318522e-d56a-4eb2-88ae-b76fcf183a78	g.chr3:71050125_71050126insTAGCTC	ENST00000318789.4	-	13	1584_1585	c.1059_1060insGAGCTA	c.(1057-1062)ctacag>ctaGAGCTAcag	p.352_353insLE	FOXP1_ENST00000491238.1_In_Frame_Ins_p.354_355insLE|FOXP1_ENST00000484350.1_In_Frame_Ins_p.276_277insLE|FOXP1_ENST00000493089.1_In_Frame_Ins_p.352_353insLE|FOXP1_ENST00000498215.1_In_Frame_Ins_p.352_353insLE|FOXP1_ENST00000468577.1_In_Frame_Ins_p.352_353insLE|FOXP1_ENST00000475937.1_In_Frame_Ins_p.352_353insLE	NM_001244810.1|NM_001244813.1|NM_032682.5	NP_001231739.1|NP_001231742.1|NP_116071.2	Q9H334	FOXP1_HUMAN	forkhead box P1	352	Leucine-zipper.				negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	31		Lung NSC(201;4.62e-05)|Prostate(10;0.0181)|Hepatocellular(537;0.186)|Myeloproliferative disorder(1037;0.209)		BRCA - Breast invasive adenocarcinoma(55;1.17e-05)|Epithelial(33;1.39e-05)|LUSC - Lung squamous cell carcinoma(21;2.35e-05)|Lung(16;4.26e-05)		GGTTTTACCTGTAGCTCTAACT	0.381			T	PAX5	ALL																																	ENST00000318789.4				Dom	yes		3	3p14.1	27086	T	forkhead box P1			L	PAX5		ALL		0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	31						c.(1057-1062)ctagct>ctGAGCTAagct		forkhead box P1																																				SO:0001652	inframe_insertion	27086				cardiac muscle cell differentiation|embryo development|immunoglobulin V(D)J recombination|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of immunoglobulin production|positive regulation of mesenchymal cell proliferation|pre-B cell differentiation|regulation of sequence-specific DNA binding transcription factor activity|skeletal muscle tissue development|smooth muscle tissue development	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding	g.chr3:71050125_71050126insTAGCTC	AF146696	CCDS2914.1, CCDS33785.1, CCDS58837.1, CCDS58838.1, CCDS58839.1, CCDS74963.1, CCDS74964.1	3p14.1	2008-07-18			ENSG00000114861	ENSG00000114861		"Forkhead boxes"	3823	protein-coding gene	gene with protein product	"fork head-related protein like B", "glutamine-rich factor 1", "PAX5/FOXP1 fusion protein"	605515				8265594, 11751404	Standard	NM_032682		Approved	QRF1, 12CC4, HSPC215, hFKH1B	uc003doj.3	Q9H334	OTTHUMG00000158803	ENST00000318789.4:c.1054_1059dupGAGCTA	3.37:g.71050126_71050131dupTAGCTC	ENSP00000318902:p.Leu351_Glu352dup					FOXP1_ENST00000498215.1_In_Frame_Ins_p.353_354LA>LS*A|FOXP1_ENST00000468577.1_In_Frame_Ins_p.353_354LA>LS*A|FOXP1_ENST00000475937.1_In_Frame_Ins_p.353_354LA>LS*A|FOXP1_ENST00000493089.1_In_Frame_Ins_p.353_354LA>LS*A|FOXP1_ENST00000484350.1_In_Frame_Ins_p.277_278LA>LS*A|FOXP1_ENST00000491238.1_In_Frame_Ins_p.355_356LA>LS*A	p.353_354LA>LS*A	NM_001244810.1|NM_001244813.1|NM_032682.5	NP_001231739.1|NP_001231742.1|NP_116071.2	Q9H334	FOXP1_HUMAN		BRCA - Breast invasive adenocarcinoma(55;1.17e-05)|Epithelial(33;1.39e-05)|LUSC - Lung squamous cell carcinoma(21;2.35e-05)|Lung(16;4.26e-05)	13	1584_1585	-		Lung NSC(201;4.62e-05)|Prostate(10;0.0181)|Hepatocellular(537;0.186)|Myeloproliferative disorder(1037;0.209)	353			Leucine-zipper.		A3QVP8|B3KV70|G5E9V8|Q8NAN6|Q9BSG9|Q9H332|Q9H333|Q9P0R1	In_Frame_Ins	INS	ENST00000318789.4	37	c.1059_1060insGAGCTA	CCDS2914.1																																																																																				0.381	FOXP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000352250.1	NM_032682		12	54						12	54	---	---	---	---	TAGCTC	71050126	-	TAGCTC	71050125	7	5	244	1	0	1	1	0	0	0	0	0	6026	1386	48	0	1009	0	FOXP1	3	71050125	In_Frame_Ins	INS	-	TCGA-HC-A6AN-01A-11D-A30E-08	28345518	71050125	126972305	13	11472											
ALDH1L1	10840	broad.mit.edu	37	chr3	125850358	125850358	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggccagctcctcctggtgctGctccatgagatctgccaacc	6	9	10	16	0	1	1	0	1	1	1	4	2	4	1	6	2	5	3	6	2	1	0			TCGA-HC-A6AN-01A-11D-A30E-08	TCGA-HC-A6AN-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	046c8e49-c295-4b2f-ad1a-da6cb0958544	5318522e-d56a-4eb2-88ae-b76fcf183a78	g.chr3:125850358G>T	ENST00000393434.2	-	13	1841	c.1492C>A	c.(1492-1494)Cag>Aag	p.Q498K	ALDH1L1_ENST00000472186.1_Missense_Mutation_p.Q498K|ALDH1L1_ENST00000452905.2_Missense_Mutation_p.Q397K|ALDH1L1_ENST00000273450.3_Missense_Mutation_p.Q508K|ALDH1L1_ENST00000393431.2_Intron	NM_012190.3	NP_036322.2	O75891	AL1L1_HUMAN	aldehyde dehydrogenase 1 family, member L1	498	Aldehyde dehydrogenase.				10-formyltetrahydrofolate catabolic process (GO:0009258)|biosynthetic process (GO:0009058)|one-carbon metabolic process (GO:0006730)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	catalytic activity (GO:0003824)|formyltetrahydrofolate dehydrogenase activity (GO:0016155)|hydroxymethyl-, formyl- and related transferase activity (GO:0016742)|methyltransferase activity (GO:0008168)|oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor (GO:0016620)			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(5)|large_intestine(10)|lung(22)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	52				GBM - Glioblastoma multiforme(114;0.0462)	Tetrahydrofolic acid(DB00116)	TCCTGGTGCTGCTCCATGAGA	0.642																																						ENST00000393434.2																			0				NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(5)|large_intestine(10)|lung(22)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	52						c.(1492-1494)Cag>Aag		aldehyde dehydrogenase 1 family, member L1	Tetrahydrofolic acid(DB00116)						61	55	57					3																	125850358		2203	4300	6503	SO:0001583	missense	10840				10-formyltetrahydrofolate catabolic process|biosynthetic process		acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity	g.chr3:125850358G>T	AF052732	CCDS3034.1, CCDS58850.1, CCDS58851.1	3q21.2	2010-07-19		2005-01-27	ENSG00000144908	ENSG00000144908	1.5.1.6	"Aldehyde dehydrogenases"	3978	protein-coding gene	gene with protein product	"cytosolic 10-formyltetrahydrofolate dehydrogenase"	600249	"formyltetrahydrofolate dehydrogenase"	FTHFD			Standard	NM_012190		Approved	10-fTHF	uc031sbp.1	O75891	OTTHUMG00000125551	ENST00000393434.2:c.1492C>A	3.37:g.125850358G>T	ENSP00000377083:p.Gln498Lys					ALDH1L1_ENST00000452905.2_Missense_Mutation_p.Q397K|ALDH1L1_ENST00000393431.2_Intron|ALDH1L1_ENST00000472186.1_Missense_Mutation_p.Q498K|ALDH1L1_ENST00000273450.3_Missense_Mutation_p.Q508K	p.Q498K	NM_012190.3	NP_036322.2	O75891	AL1L1_HUMAN		GBM - Glioblastoma multiforme(114;0.0462)	13	1841	-			498			Aldehyde dehydrogenase.		B4DG36|E9PBX3|Q68CS1	Missense_Mutation	SNP	ENST00000393434.2	37	c.1492C>A	CCDS3034.1	.	.	.	.	.	.	.	.	.	.	G	6.425	0.446504	0.12223	.	.	ENSG00000144908	ENST00000273450;ENST00000472186;ENST00000452905;ENST00000393434	T;T;T;T	0.07021	3.23;3.23;3.23;3.23	4.08	2.03	0.26663	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, N-terminal (1);Aldehyde/histidinol dehydrogenase (1);	0.205951	0.38492	N	0.001663	T	0.03520	0.0101	N	0.02315	-0.6	0.80722	D	1	B;B	0.27068	0.167;0.0	B;B	0.29663	0.105;0.003	T	0.50083	-0.8869	10	0.31617	T	0.26	.	11.0126	0.47671	0.0:0.5153:0.4847:0.0	.	397;498	E9PBX3;O75891	.;AL1L1_HUMAN	K	508;498;397;498	ENSP00000273450:Q508K;ENSP00000420293:Q498K;ENSP00000395881:Q397K;ENSP00000377083:Q498K	ENSP00000273450:Q508K	Q	-	1	0	ALDH1L1	127333048	1.000000	0.71417	1.000000	0.80357	0.114000	0.19823	1.425000	0.34859	1.009000	0.39289	0.467000	0.42956	CAG		0.642	ALDH1L1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354391.1	NM_012190		7	67	1	0	0.00448238	1	0.00456242	7	67					T	125850358	G	T	125850358	3	4	244	1	0	0	0	0	1	0	0	0	494	1328	46	5	1260	5	ALDH1L1	3	125850358	Missense_Mutation	SNP	G	TCGA-HC-A6AN-01A-11D-A30E-08	54800233	125850358	72172072	14	11473											
PIK3CA	5290	broad.mit.edu	37	chr3	178916936	178916936	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aattgaaccagtaggcaaccGtgaagaaaagatcctcaatc	17	7	8	9	1	1	4	1	2	0	2	3	4	2	4	3	1	2	2	3	1	8	2			TCGA-HC-A6AN-01A-11D-A30E-08	TCGA-HC-A6AN-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	046c8e49-c295-4b2f-ad1a-da6cb0958544	5318522e-d56a-4eb2-88ae-b76fcf183a78	g.chr3:178916936G>A	ENST00000263967.3	+	2	480	c.323G>A	c.(322-324)cGt>cAt	p.R108H		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	108					angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.R108H(11)|p.R108L(2)|p.G106_R108delGNR(2)|p.G106_R108del(2)|p.R108P(1)|p.R108del(1)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	GTAGGCAACCGTGAAGAAAAG	0.338		57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	ENST00000263967.3		57		Dom	yes		3	3q26.3	5290	Mis	"phosphoinositide-3-kinase, catalytic, alpha polypeptide"			"E, O"			"colorectal, gastric, gliobastoma, breast"		19	Substitution - Missense(14)|Deletion - In frame(5)	p.R108H(11)|p.R108L(2)|p.G106_R108delGNR(2)|p.G106_R108del(2)|p.R108P(1)|p.R108del(1)	endometrium(7)|large_intestine(5)|lung(4)|breast(2)|central_nervous_system(1)	NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269						c.(322-324)cGt>cAt		phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha							87	82	84					3																	178916936		1822	4071	5893	SO:0001583	missense	5290				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	g.chr3:178916936G>A		CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"phosphoinositide-3-kinase, catalytic, alpha polypeptide"			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.323G>A	3.37:g.178916936G>A	ENSP00000263967:p.Arg108His	HNSCC(19;0.045)|TSP Lung(28;0.18)					p.R108H	NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		2	480	+	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		108			PI3K-ABD.		Q14CW1|Q99762	Missense_Mutation	SNP	ENST00000263967.3	37	c.323G>A	CCDS43171.1	.	.	.	.	.	.	.	.	.	.	G	25.8	4.677294	0.88445	.	.	ENSG00000121879	ENST00000263967;ENST00000468036	T;T	0.74209	0.8;-0.82	5.52	5.52	0.82312	Phosphatidylinositol 3-kinase, p85-binding (2);	0.000000	0.85682	D	0.000000	D	0.84808	0.5554	M	0.64404	1.975	0.80722	D	1	D	0.89917	1.0	D	0.73380	0.98	D	0.83714	0.0189	9	.	.	.	-11.9048	19.4271	0.94746	0.0:0.0:1.0:0.0	.	108	P42336	PK3CA_HUMAN	H	108	ENSP00000263967:R108H;ENSP00000417479:R108H	.	R	+	2	0	PIK3CA	180399630	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.630000	0.83225	2.584000	0.87258	0.555000	0.69702	CGT		0.338	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2			6	96	0	0	0	1	0	6	96					A	178916936	G	A	178916936	3	1	244	1	0	0	0	0	1	0	0	0	11913	1145	40	1	325	1	PIK3CA	3	178916936	Missense_Mutation	SNP	G	TCGA-HC-A6AN-01A-11D-A30E-08	53066578	178916936	19105494	15	11474											
PDE6B	5158	broad.mit.edu	37	chr4	619651	619651	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagcgcgtggtcttcaaggTcctgcggcgcctctgcaccc	4	8	14	15	4	3	0	1	0	2	0	4	1	4	1	3	4	3	1	3	4	1	1			TCGA-HC-A6AN-01A-11D-A30E-08	TCGA-HC-A6AN-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	046c8e49-c295-4b2f-ad1a-da6cb0958544	5318522e-d56a-4eb2-88ae-b76fcf183a78	g.chr4:619651T>C	ENST00000496514.1	+	1	257	c.236T>C	c.(235-237)gTc>gCc	p.V79A	PDE6B_ENST00000255622.6_Missense_Mutation_p.V79A			P35913	PDE6B_HUMAN	phosphodiesterase 6B, cGMP-specific, rod, beta	79	GAF 1.				cytosolic calcium ion homeostasis (GO:0051480)|GMP metabolic process (GO:0046037)|phototransduction, visible light (GO:0007603)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|retina development in camera-type eye (GO:0060041)|rhodopsin mediated signaling pathway (GO:0016056)|visual perception (GO:0007601)	photoreceptor disc membrane (GO:0097381)|plasma membrane (GO:0005886)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|metal ion binding (GO:0046872)			NS(1)|breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|urinary_tract(1)	30					Caffeine(DB00201)	GTCTTCAAGGTCCTGCGGCGC	0.662																																					GBM(71;463 1194 9848 25922 46834)	ENST00000255622.6																			0				NS(1)|breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|urinary_tract(1)	30						c.(235-237)gTc>gCc		phosphodiesterase 6B, cGMP-specific, rod, beta							24	21	22					4																	619651		2201	4300	6501	SO:0001583	missense	5158				cytosolic calcium ion homeostasis|GMP metabolic process|phototransduction, visible light|platelet activation|visual perception	cytosol|membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding	g.chr4:619651T>C	BC000249	CCDS33932.1, CCDS46993.1, CCDS54703.1	4p16.3	2014-01-28	2008-07-31		ENSG00000133256	ENSG00000133256	3.1.4.17	"Phosphodiesterases"	8786	protein-coding gene	gene with protein product	"congenital stationary night blindness 3, autosomal dominant"	180072		PDEB		1313787	Standard	NM_001145292		Approved	CSNB3, rd1, RP40, CSNBAD2	uc003gap.3	P35913	OTTHUMG00000159909	ENST00000496514.1:c.236T>C	4.37:g.619651T>C	ENSP00000420295:p.Val79Ala					PDE6B_ENST00000496514.1_Missense_Mutation_p.V79A	p.V79A	NM_000283.3|NM_001145291.1	NP_000274.2|NP_001138763.1	P35913	PDE6B_HUMAN			1	279	+			79			GAF 1.		B7Z9T9|E7ETT3|Q53XN5|Q9BWH5|Q9UD49	Missense_Mutation	SNP	ENST00000496514.1	37	c.236T>C	CCDS33932.1	.	.	.	.	.	.	.	.	.	.	T	11.93	1.786616	0.31593	.	.	ENSG00000133256	ENST00000255622;ENST00000496514	T;T	0.71817	-0.6;-0.6	4.98	2.48	0.30137	GAF (2);	0.283961	0.38436	N	0.001698	T	0.55386	0.1917	L	0.39085	1.19	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.08055	0.003;0.002	T	0.42849	-0.9427	10	0.37606	T	0.19	.	6.5785	0.22581	0.0:0.3096:0.0:0.6904	.	79;79	P35913;P35913-2	PDE6B_HUMAN;.	A	79	ENSP00000255622:V79A;ENSP00000420295:V79A	ENSP00000255622:V79A	V	+	2	0	PDE6B	609651	0.556000	0.26538	0.878000	0.34440	0.950000	0.60333	2.299000	0.43611	0.264000	0.21851	0.459000	0.35465	GTC		0.662	PDE6B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000358109.1	NM_000283		8	19	0	0	0	1	0	8	19					C	619651	T	C	619651	3	2	244	1	0	0	0	0	1	0	0	0	11646	1667	58	4	238	4	PDE6B	4	619651	Missense_Mutation	SNP	T	TCGA-HC-A6AN-01A-11D-A30E-08		619651	190534625	16	11475											
WDR1	9948	broad.mit.edu	37	chr4	10089926	10089927	+	Frame_Shift_Del	DEL	CC	CC	-																															ctcatactcactgcgtaaatCccaccgtcgtgggccttgct																										TCGA-HC-A6AN-01A-11D-A30E-08	TCGA-HC-A6AN-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	046c8e49-c295-4b2f-ad1a-da6cb0958544	5318522e-d56a-4eb2-88ae-b76fcf183a78	g.chr4:10089926_10089927delCC	ENST00000499869.2	-	7	900_901	c.707_708delGG	c.(706-708)gggfs	p.G236fs	WDR1_ENST00000515743.1_5'UTR|WDR1_ENST00000502702.1_Frame_Shift_Del_p.G96fs|WDR1_ENST00000382451.2_Frame_Shift_Del_p.G96fs|WDR1_ENST00000382452.2_Frame_Shift_Del_p.G236fs			O75083	WDR1_HUMAN	WD repeat domain 1	236					blood coagulation (GO:0007596)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|sensory perception of sound (GO:0007605)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)				endometrium(3)|lung(5)|ovary(2)|pancreas(1)|urinary_tract(1)	12				STAD - Stomach adenocarcinoma(129;0.000703)|Colorectal(103;0.0057)|LUSC - Lung squamous cell carcinoma(721;0.0232)		CTGCGTAAATCCCACCGTCGTG	0.53																																						ENST00000382452.2																			0				endometrium(3)|lung(5)|ovary(2)|pancreas(1)|urinary_tract(1)	12						c.(706-708)gfs		WD repeat domain 1																																				SO:0001589	frameshift_variant	9948				platelet activation|platelet degranulation|sensory perception of sound	cytoskeleton|cytosol|extracellular region	actin binding	g.chr4:10089926_10089927delCC	AF020260	CCDS54739.1, CCDS54740.1	4p16.1	2013-01-09			ENSG00000071127	ENSG00000071127		"WD repeat domain containing"	12754	protein-coding gene	gene with protein product		604734				10036186	Standard	NM_017491		Approved		uc021xlv.1	O75083	OTTHUMG00000160253	ENST00000499869.2:c.707_708delGG	4.37:g.10089926_10089927delCC	ENSP00000427687:p.Gly236fs					WDR1_ENST00000382451.2_Frame_Shift_Del_p.G96fs|WDR1_ENST00000502702.1_Frame_Shift_Del_p.G96fs|WDR1_ENST00000499869.2_Frame_Shift_Del_p.G236fs|WDR1_ENST00000515743.1_5'UTR	p.G236fs	NM_017491.3	NP_059830.1	O75083	WDR1_HUMAN		STAD - Stomach adenocarcinoma(129;0.000703)|Colorectal(103;0.0057)|LUSC - Lung squamous cell carcinoma(721;0.0232)	7	989_990	-			236					A8K6E9|A8MPU4|O75313|Q8N6E5|Q9UG05|Q9UG78|Q9UQE0	Frame_Shift_Del	DEL	ENST00000499869.2	37	c.707_708delGG	CCDS54740.1																																																																																				0.53	WDR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359877.1			2	4						2	4	---	---	---	---	-	10089927	CC	-	10089926	7	5	244	1	0	1	0	1	0	0	0	0	17269	842	30	0	1148	0	WDR1	4	10089926	Frame_Shift_Del	DEL	CC	TCGA-HC-A6AN-01A-11D-A30E-08	9470275	10089926	181064350	17	11476											
SLC9A3	6550	broad.mit.edu	37	chr5	482257	482257	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cttcagccactgcaccagagGcttgatggtcaggccctgga	8	8	12	13	0	2	2	2	1	0	1	2	3	2	3	3	4	2	2	3	4	0	2			TCGA-HC-A6AN-01A-11D-A30E-08	TCGA-HC-A6AN-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	046c8e49-c295-4b2f-ad1a-da6cb0958544	5318522e-d56a-4eb2-88ae-b76fcf183a78	g.chr5:482257G>T	ENST00000264938.3	-	8	1381	c.1372C>A	c.(1372-1374)Cct>Act	p.P458T	CTD-2228K2.7_ENST00000607005.1_RNA|SLC9A3_ENST00000514375.1_Intron|CTD-2228K2.7_ENST00000607286.1_RNA|CTD-2228K2.7_ENST00000606288.1_RNA	NM_004174.2	NP_004165.2	P48764	SL9A3_HUMAN	solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3	458					ion transport (GO:0006811)|regulation of pH (GO:0006885)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border (GO:0005903)|brush border membrane (GO:0031526)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	PDZ domain binding (GO:0030165)|sodium:proton antiporter activity (GO:0015385)			NS(2)|biliary_tract(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(16)|prostate(3)|skin(2)|urinary_tract(1)	37			Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)			TGCACCAGAGGCTTGATGGTC	0.692																																						ENST00000264938.3																			0				NS(2)|biliary_tract(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(16)|prostate(3)|skin(2)|urinary_tract(1)	37						c.(1372-1374)Cct>Act		solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3							30	30	30					5																	482257		2202	4300	6502	SO:0001583	missense	6550					cell surface|integral to membrane	sodium:hydrogen antiporter activity	g.chr5:482257G>T		CCDS3855.1, CCDS64116.1	5p15.3	2013-05-22	2012-03-22		ENSG00000066230	ENSG00000066230		"Solute carriers"	11073	protein-coding gene	gene with protein product		182307	"solute carrier family 9 (sodium/hydrogen exchanger), isoform 3", "solute carrier family 9 (sodium/hydrogen exchanger), member 3"	NHE3		8096830	Standard	NM_004174		Approved		uc003jbe.2	P48764	OTTHUMG00000090315	ENST00000264938.3:c.1372C>A	5.37:g.482257G>T	ENSP00000264938:p.Pro458Thr					SLC9A3_ENST00000514375.1_Intron	p.P458T	NM_004174.2	NP_004165.2	P48764	SL9A3_HUMAN	Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)		8	1381	-			458					B7ZKR2|E9PF67|Q3MIW3	Missense_Mutation	SNP	ENST00000264938.3	37	c.1372C>A	CCDS3855.1	.	.	.	.	.	.	.	.	.	.	G	23.4	4.414020	0.83449	.	.	ENSG00000066230	ENST00000264938	T	0.19938	2.11	4.0	4.0	0.46444	Cation/H+ exchanger (1);	0.000000	0.85682	D	0.000000	T	0.56077	0.1961	M	0.92268	3.29	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.70457	-0.4866	10	0.72032	D	0.01	.	16.0686	0.80907	0.0:0.0:1.0:0.0	.	458	P48764	SL9A3_HUMAN	T	458	ENSP00000264938:P458T	ENSP00000264938:P458T	P	-	1	0	SLC9A3	535257	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	6.357000	0.73051	1.942000	0.56320	0.555000	0.69702	CCT		0.692	SLC9A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206677.2	NM_004174		17	32	1	0	1.15919e-05	1	1.27065e-05	17	32					T	482257	G	T	482257	3	4	244	1	0	0	0	0	1	0	0	0	14713	1203	42	5	1172	5	SLC9A3	5	482257	Missense_Mutation	SNP	G	TCGA-HC-A6AN-01A-11D-A30E-08		482257	180433003	18	11477											
PDZD2	23037	broad.mit.edu	37	chr5	32090990	32090990	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcagccctcgcccgtgtcccGctccaagctccaggagctga	6	6	11	18	3	0	1	0	1	0	0	4	2	3	2	5	1	3	4	5	1	1	0			TCGA-HC-A6AN-01A-11D-A30E-08	TCGA-HC-A6AN-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	046c8e49-c295-4b2f-ad1a-da6cb0958544	5318522e-d56a-4eb2-88ae-b76fcf183a78	g.chr5:32090990G>A	ENST00000438447.1	+	20	7824	c.7436G>A	c.(7435-7437)cGc>cAc	p.R2479H	PDZD2_ENST00000282493.3_Missense_Mutation_p.R2479H			O15018	PDZD2_HUMAN	PDZ domain containing 2	2479					cell adhesion (GO:0007155)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|nucleus (GO:0005634)				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						CCCGTGTCCCGCTCCAAGCTC	0.592																																						ENST00000438447.1																			0				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						c.(7435-7437)cGc>cAc		PDZ domain containing 2							58	58	58					5																	32090990		2203	4300	6503	SO:0001583	missense	23037				cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus		g.chr5:32090990G>A	AB002298	CCDS34137.1	5p14.1	2008-02-05	2006-01-24	2006-01-24		ENSG00000133401			18486	protein-coding gene	gene with protein product		610697	"PDZ domain containing 3"	PDZK3		9205841	Standard	XM_005248271		Approved	KIAA0300	uc003jhm.3	O15018		ENST00000438447.1:c.7436G>A	5.37:g.32090990G>A	ENSP00000402033:p.Arg2479His					PDZD2_ENST00000282493.3_Missense_Mutation_p.R2479H	p.R2479H			O15018	PDZD2_HUMAN			20	7824	+			2479					Q9BXD4	Missense_Mutation	SNP	ENST00000438447.1	37	c.7436G>A	CCDS34137.1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.251372	0.80135	.	.	ENSG00000133401	ENST00000438447;ENST00000382161;ENST00000282493	T;T	0.17213	2.29;2.29	5.15	4.28	0.50868	.	0.000000	0.51477	D	0.000092	T	0.38957	0.1060	M	0.71581	2.175	0.38599	D	0.950623	D	0.89917	1.0	D	0.85130	0.997	T	0.34030	-0.9845	10	0.54805	T	0.06	.	11.4515	0.50156	0.0884:0.0:0.9116:0.0	.	2479	O15018	PDZD2_HUMAN	H	2479;2280;2479	ENSP00000402033:R2479H;ENSP00000282493:R2479H	ENSP00000282493:R2479H	R	+	2	0	PDZD2	32126747	1.000000	0.71417	0.999000	0.59377	0.825000	0.46686	6.598000	0.74122	1.154000	0.42482	0.561000	0.74099	CGC		0.592	PDZD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366608.1			4	124	0	0	0	1	0	4	124					A	32090990	G	A	32090990	3	1	244	1	0	0	0	0	1	0	0	0	11701	1087	38	1	7510	1	PDZD2	5	32090990	Missense_Mutation	SNP	G	TCGA-HC-A6AN-01A-11D-A30E-08	31608733	32090990	148824270	19	11478											
KDM3B	51780	broad.mit.edu	37	chr5	137721936	137721936	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ccagtggagagccagggctgGatcagagagccaagcagcca	12	3	15	11	0	1	2	1	0	0	2	1	5	1	3	4	3	4	2	4	3	1	0			TCGA-HC-A6AN-01A-11D-A30E-08	TCGA-HC-A6AN-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	046c8e49-c295-4b2f-ad1a-da6cb0958544	5318522e-d56a-4eb2-88ae-b76fcf183a78	g.chr5:137721936G>T	ENST00000314358.5	+	7	1206	c.1006G>T	c.(1006-1008)Gat>Tat	p.D336Y	KDM3B_ENST00000394866.1_Intron|KDM3B_ENST00000542866.1_5'Flank	NM_016604.3	NP_057688	Q7LBC6	KDM3B_HUMAN	lysine (K)-specific demethylase 3B	336					chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(15)|liver(2)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	65						GCCAGGGCTGGATCAGAGAGC	0.552																																						ENST00000314358.5																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(15)|liver(2)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	65						c.(1006-1008)Gat>Tat		lysine (K)-specific demethylase 3B							152	155	154					5																	137721936		2203	4300	6503	SO:0001583	missense	51780				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr5:137721936G>T	AF251039	CCDS34242.1	5q31	2011-07-01	2009-04-06	2009-04-06	ENSG00000120733	ENSG00000120733		"Chromatin-modifying enzymes / K-demethylases"	1337	protein-coding gene	gene with protein product		609373	"chromosome 5 open reading frame 7", "jumonji domain containing 1B"	C5orf7, JMJD1B		15138608	Standard	NM_016604		Approved	KIAA1082, NET22	uc003lcy.1	Q7LBC6	OTTHUMG00000163469	ENST00000314358.5:c.1006G>T	5.37:g.137721936G>T	ENSP00000326563:p.Asp336Tyr					KDM3B_ENST00000394866.1_Intron	p.D336Y	NM_016604.3	NP_057688.2	Q7LBC6	KDM3B_HUMAN			7	1206	+			336					A6H8X7|Q9BVH6|Q9BW93|Q9BZ52|Q9NYF4|Q9UPS0	Missense_Mutation	SNP	ENST00000314358.5	37	c.1006G>T	CCDS34242.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.951009	0.73787	.	.	ENSG00000120733	ENST00000314358;ENST00000545151	T	0.65178	-0.14	5.59	5.59	0.84812	.	0.607362	0.17618	N	0.167828	T	0.58061	0.2096	L	0.27053	0.805	0.80722	D	1	B	0.31790	0.34	B	0.37091	0.241	T	0.59941	-0.7359	10	0.66056	D	0.02	-23.7888	19.5692	0.95405	0.0:0.0:1.0:0.0	.	336	Q7LBC6	KDM3B_HUMAN	Y	336;126	ENSP00000326563:D336Y	ENSP00000326563:D336Y	D	+	1	0	KDM3B	137749835	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.828000	0.55753	2.614000	0.88457	0.557000	0.71058	GAT		0.552	KDM3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373597.1	NM_016604		52	194	1	0	3.68337e-26	1	4.28474e-26	52	194					T	137721936	G	T	137721936	3	4	244	1	0	0	0	0	1	0	0	0	8127	1174	41	5	1032	5	KDM3B	5	137721936	Missense_Mutation	SNP	G	TCGA-HC-A6AN-01A-11D-A30E-08	105630946	137721936	43193324	20	11479											
KIAA0141	9812	broad.mit.edu	37	chr5	141305054	141305054	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttccaatggatgtcttccCgtgtctccccgaacacccta	7	11	6	17	2	2	0	0	0	2	0	5	2	4	1	6	1	1	0	6	1	3	3	rs529722497		TCGA-HC-A6AN-01A-11D-A30E-08	TCGA-HC-A6AN-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	046c8e49-c295-4b2f-ad1a-da6cb0958544	5318522e-d56a-4eb2-88ae-b76fcf183a78	g.chr5:141305054C>T	ENST00000432126.2	+	3	360	c.226C>T	c.(226-228)Cgt>Tgt	p.R76C	KIAA0141_ENST00000194118.4_Missense_Mutation_p.R76C	NM_001142603.1|NM_014773.3	NP_001136075.1|NP_055588.3	Q14154	DELE_HUMAN	KIAA0141	76					extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)	mitochondrion (GO:0005739)				endometrium(3)|large_intestine(4)|lung(5)|skin(1)|urinary_tract(3)	16		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GATGTCTTCCCGTGTCTCCCC	0.547													C|||	1	0.000199681	0	0	5008	,	,		18516	0.001		0	False		,,,				2504	0					ENST00000432126.2																			0				endometrium(3)|large_intestine(4)|lung(5)|skin(1)|urinary_tract(3)	16						c.(226-228)Cgt>Tgt		KIAA0141							195	146	163					5																	141305054		2203	4300	6503	SO:0001583	missense	9812				apoptosis|regulation of caspase activity	mitochondrion	protein binding	g.chr5:141305054C>T	BC011269	CCDS4268.1	5q31	2011-05-05			ENSG00000081791	ENSG00000081791			28969	protein-coding gene	gene with protein product	"death ligand signal enhancer"	615741				20563667	Standard	XM_005268549		Approved	DELE	uc003llt.3	Q14154	OTTHUMG00000129662	ENST00000432126.2:c.226C>T	5.37:g.141305054C>T	ENSP00000396225:p.Arg76Cys					KIAA0141_ENST00000194118.4_Missense_Mutation_p.R76C	p.R76C	NM_001142603.1|NM_014773.3	NP_001136075.1|NP_055588.3	Q14154	DELE_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		3	360	+		all_hematologic(541;0.118)	76					Q969R4|Q96EU9	Missense_Mutation	SNP	ENST00000432126.2	37	c.226C>T	CCDS4268.1	.	.	.	.	.	.	.	.	.	.	C	5.869	0.344522	0.11126	.	.	ENSG00000081791	ENST00000432126;ENST00000194118;ENST00000508751	T;T;T	0.19669	2.59;2.59;2.13	4.85	3.08	0.35506	.	0.351137	0.27451	N	0.019301	T	0.20780	0.0500	M	0.62723	1.935	0.09310	N	1	B	0.11235	0.004	B	0.06405	0.002	T	0.19943	-1.0290	10	0.56958	D	0.05	-0.0775	7.7561	0.28925	0.0:0.8044:0.0:0.1956	.	76	Q14154	DELE_HUMAN	C	76	ENSP00000396225:R76C;ENSP00000194118:R76C;ENSP00000422686:R76C	ENSP00000194118:R76C	R	+	1	0	KIAA0141	141285238	0.000000	0.05858	0.777000	0.31699	0.061000	0.15899	0.024000	0.13555	0.484000	0.27630	-0.467000	0.05162	CGT		0.547	KIAA0141-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251863.2	NM_014773		4	155	0	0	0	1	0	4	155					T	141305054	C	T	141305054	3	4	244	1	0	0	0	0	1	0	0	0	8156	652	23	2	236	2	KIAA0141	5	141305054	Missense_Mutation	SNP	C	TCGA-HC-A6AN-01A-11D-A30E-08	3583118	141305054	39610206	21	11480											
PRELID1	27166	broad.mit.edu	37	chr5	176731691	176731691	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgaccagaaactgctgtcccGgcgactcctgaccaagacca	11	6	9	15	2	0	4	0	2	0	2	2	5	2	4	5	1	2	1	5	1	2	0			TCGA-HC-A6AN-01A-11D-A30E-08	TCGA-HC-A6AN-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	046c8e49-c295-4b2f-ad1a-da6cb0958544	5318522e-d56a-4eb2-88ae-b76fcf183a78	g.chr5:176731691G>A	ENST00000303204.4	+	2	370	c.158G>A	c.(157-159)cGg>cAg	p.R53Q	RAB24_ENST00000303251.6_5'Flank|PRELID1_ENST00000503216.1_Missense_Mutation_p.R53Q|RAB24_ENST00000393611.2_5'Flank|PRELID1_ENST00000502670.1_3'UTR|RAB24_ENST00000303270.6_5'Flank			Q9Y255	PRLD1_HUMAN	PRELI domain containing 1	53	PRELI/MSF1. {ECO:0000255|PROSITE- ProRule:PRU00158}.				apoptotic process (GO:0006915)|immune response (GO:0006955)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of mitochondrial membrane potential (GO:0010917)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|phospholipid transport (GO:0015914)|positive regulation of cellular respiration (GO:1901857)|positive regulation of endopeptidase activity (GO:0010950)|positive regulation of phospholipid transport (GO:2001140)|positive regulation of T cell apoptotic process (GO:0070234)|regulation of membrane lipid distribution (GO:0097035)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of T cell differentiation (GO:0045580)	mitochondrial intermembrane space (GO:0005758)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein complex (GO:0043234)				endometrium(1)|kidney(2)|lung(2)|prostate(1)|stomach(1)	7	all_cancers(89;2.49e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CTGCTGTCCCGGCGACTCCTG	0.567																																						ENST00000303204.4																			0				endometrium(1)|kidney(2)|lung(2)|prostate(1)|stomach(1)	7						c.(157-159)cGg>cAg		PRELI domain containing 1							58	54	55					5																	176731691		2203	4299	6502	SO:0001583	missense	27166				immune response|multicellular organismal development	mitochondrion|nucleus		g.chr5:176731691G>A	BC013748	CCDS4415.1, CCDS64328.1	5q35.3	2010-01-18			ENSG00000169230	ENSG00000169230			30255	protein-coding gene	gene with protein product	"protein of relevant evolutionary and lymphoid interest", "px19-like protein"	605733				10784606, 14640972	Standard	NM_013237		Approved	CGI-106, PX19, PRELI	uc003mfx.4	Q9Y255	OTTHUMG00000130847	ENST00000303204.4:c.158G>A	5.37:g.176731691G>A	ENSP00000302114:p.Arg53Gln					PRELID1_ENST00000502670.1_3'UTR|PRELID1_ENST00000503216.1_Missense_Mutation_p.R53Q	p.R53Q			Q9Y255	PRLD1_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		2	370	+	all_cancers(89;2.49e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	53			PRELI/MSF1.		B2R5F7|D6RD25|Q549N2|Q9UI13|Q9UJS9	Missense_Mutation	SNP	ENST00000303204.4	37	c.158G>A	CCDS4415.1	.	.	.	.	.	.	.	.	.	.	G	26.6	4.756108	0.89843	.	.	ENSG00000169230	ENST00000303204;ENST00000503216	T;T	0.17054	2.3;2.3	5.19	5.19	0.71726	PRELI/MSF1 (2);	0.000000	0.85682	D	0.000000	T	0.24392	0.0591	M	0.79805	2.47	0.80722	D	1	P;P	0.38617	0.64;0.64	B;B	0.32533	0.147;0.147	T	0.09596	-1.0667	10	0.34782	T	0.22	-6.5515	18.3464	0.90324	0.0:0.0:1.0:0.0	.	53;53	D6RD25;Q9Y255	.;PRLD1_HUMAN	Q	53	ENSP00000302114:R53Q;ENSP00000427097:R53Q	ENSP00000302114:R53Q	R	+	2	0	PRELID1	176664297	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	9.227000	0.95236	2.425000	0.82216	0.561000	0.74099	CGG		0.567	PRELID1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253414.1	NM_013237		12	42	0	0	0	1	0	12	42					A	176731691	G	A	176731691	3	1	244	1	0	0	0	0	1	0	0	0	12471	1116	39	2	164	2	PRELID1	5	176731691	Missense_Mutation	SNP	G	TCGA-HC-A6AN-01A-11D-A30E-08	35426637	176731691	4183569	22	11481											
SERPINB1	1992	broad.mit.edu	37	chr6	2834226	2834226	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtccactcatgcaacttttcCaaagtcaactgttcctcaat	11	13	4	13	0	3	0	3	0	0	0	6	0	6	0	3	0	3	2	3	0	4	3			TCGA-HC-A6AN-01A-11D-A30E-08	TCGA-HC-A6AN-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	046c8e49-c295-4b2f-ad1a-da6cb0958544	5318522e-d56a-4eb2-88ae-b76fcf183a78	g.chr6:2834226C>G	ENST00000380739.5	-	7	958	c.756G>C	c.(754-756)ttG>ttC	p.L252F	SERPINB1_ENST00000537185.1_Missense_Mutation_p.L101F|SERPINB1_ENST00000476896.1_5'Flank	NM_030666.3	NP_109591.1	P30740	ILEU_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 1	252					negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(4)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(1)|lung(2)|ovary(2)	13	Ovarian(93;0.0412)			OV - Ovarian serous cystadenocarcinoma(45;0.0717)		GCAACTTTTCCAAAGTCAACT	0.363																																						ENST00000380739.5																			0				breast(4)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(1)|lung(2)|ovary(2)	13						c.(754-756)ttG>ttC		serpin peptidase inhibitor, clade B (ovalbumin), member 1							38	35	36					6																	2834226		2201	4294	6495	SO:0001583	missense	1992				regulation of proteolysis	cytoplasm|extracellular space	serine-type endopeptidase inhibitor activity	g.chr6:2834226C>G	M93056	CCDS4477.1	6p25.2	2014-02-18	2005-08-18		ENSG00000021355	ENSG00000021355		"Serine (or cysteine) peptidase inhibitors"	3311	protein-coding gene	gene with protein product		130135	"serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 1"	ELANH2		1376927, 24172014	Standard	NM_030666		Approved	EI, PI2, anti-elastase	uc003mub.4	P30740	OTTHUMG00000014124	ENST00000380739.5:c.756G>C	6.37:g.2834226C>G	ENSP00000370115:p.Leu252Phe					SERPINB1_ENST00000537185.1_Missense_Mutation_p.L101F	p.L252F			P30740	ILEU_HUMAN		OV - Ovarian serous cystadenocarcinoma(45;0.0717)	7	958	-	Ovarian(93;0.0412)		252					A8K5L2|B4DNT0|Q53FB9|Q5W0E1|Q9UDF8	Missense_Mutation	SNP	ENST00000380739.5	37	c.756G>C	CCDS4477.1	.	.	.	.	.	.	.	.	.	.	C	4.663	0.123234	0.08931	.	.	ENSG00000021355	ENST00000380739;ENST00000542771;ENST00000537185	D;D	0.84442	-1.85;-1.85	5.47	2.7	0.31948	Serpin domain (3);	0.667620	0.14652	N	0.306560	T	0.63616	0.2526	L	0.38531	1.155	0.40386	D	0.979492	B	0.24092	0.097	B	0.31191	0.125	T	0.54662	-0.8260	10	0.29301	T	0.29	.	5.6655	0.17693	0.139:0.6254:0.0:0.2356	.	252	P30740	ILEU_HUMAN	F	252;214;101	ENSP00000370115:L252F;ENSP00000444543:L101F	ENSP00000370115:L252F	L	-	3	2	SERPINB1	2779225	0.661000	0.27430	0.794000	0.32065	0.097000	0.18754	0.247000	0.18179	0.363000	0.24346	-0.157000	0.13467	TTG		0.363	SERPINB1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039637.1			9	45	0	0	0	1	0	9	45					G	2834226	C	G	2834226	3	3	244	1	0	0	0	0	1	0	0	0	14096	593	21	5	387	5	SERPINB1	6	2834226	Missense_Mutation	SNP	C	TCGA-HC-A6AN-01A-11D-A30E-08		2834226	168280841	23	11482											
ANKRD6	22881	broad.mit.edu	37	chr6	90340367	90340367	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cagccagatctgatcagcagGctgggccctgcgtcaacaga	10	6	12	13	1	3	3	2	1	1	2	3	3	3	3	2	2	4	2	2	2	1	0	rs537834165		TCGA-HC-A6AN-01A-11D-A30E-08	TCGA-HC-A6AN-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	046c8e49-c295-4b2f-ad1a-da6cb0958544	5318522e-d56a-4eb2-88ae-b76fcf183a78	g.chr6:90340367G>C	ENST00000522441.1	+	16	2469	c.1828G>C	c.(1828-1830)Gct>Cct	p.A610P	LYRM2_ENST00000520441.1_Intron|ANKRD6_ENST00000447838.2_Missense_Mutation_p.A605P|ANKRD6_ENST00000520793.1_Missense_Mutation_p.A546P|ANKRD6_ENST00000339746.4_Missense_Mutation_p.A610P|ANKRD6_ENST00000369408.5_Missense_Mutation_p.A575P	NM_001242811.1	NP_001229740.1	Q9Y2G4	ANKR6_HUMAN	ankyrin repeat domain 6	610					negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of JNK cascade (GO:0046330)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|endometrium(3)|large_intestine(7)|lung(3)|ovary(3)|pancreas(1)|prostate(1)|stomach(2)	21		all_cancers(76;1.22e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.79e-07)|all_epithelial(107;1.83e-05)|Lung NSC(302;0.239)		BRCA - Breast invasive adenocarcinoma(108;0.0209)		TGATCAGCAGGCTGGGCCCTG	0.582																																						ENST00000369408.5																			0				NS(1)|endometrium(3)|large_intestine(7)|lung(3)|ovary(3)|pancreas(1)|prostate(1)|stomach(2)	21						c.(1723-1725)Gct>Cct		ankyrin repeat domain 6							25	28	27					6																	90340367		2058	4192	6250	SO:0001583	missense	22881						protein binding	g.chr6:90340367G>C	AB023174	CCDS47460.1, CCDS56441.1, CCDS56442.1, CCDS56443.1	6q14.2-q16.1	2013-03-20			ENSG00000135299	ENSG00000135299		"Ankyrin repeat domain containing"	17280	protein-coding gene	gene with protein product		610583					Standard	NM_001242809		Approved	KIAA0957	uc003pni.4	Q9Y2G4	OTTHUMG00000015202	ENST00000522441.1:c.1828G>C	6.37:g.90340367G>C	ENSP00000430985:p.Ala610Pro					ANKRD6_ENST00000339746.4_Missense_Mutation_p.A610P|LYRM2_ENST00000520441.1_Intron|ANKRD6_ENST00000447838.2_Missense_Mutation_p.A605P|ANKRD6_ENST00000522441.1_Missense_Mutation_p.A610P|ANKRD6_ENST00000520793.1_Missense_Mutation_p.A546P	p.A575P	NM_001242813.1	NP_001229742.1	Q9Y2G4	ANKR6_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0209)	15	2072	+		all_cancers(76;1.22e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.79e-07)|all_epithelial(107;1.83e-05)|Lung NSC(302;0.239)	610					B3KUC3|Q5JUJ4|Q5JUJ5|Q8IUQ8|Q9NU24|Q9UFQ9	Missense_Mutation	SNP	ENST00000522441.1	37	c.1723G>C	CCDS56441.1	.	.	.	.	.	.	.	.	.	.	G	11.04	1.521907	0.27211	.	.	ENSG00000135299	ENST00000369408;ENST00000339746;ENST00000447838;ENST00000522441;ENST00000520793	T;T;T;T;T	0.67523	1.21;1.2;1.2;1.2;-0.27	5.01	2.22	0.28083	.	0.348517	0.24791	N	0.035569	T	0.29028	0.0721	N	0.22421	0.69	0.80722	D	1	P;B;B;B	0.37955	0.612;0.203;0.305;0.0	B;B;B;B	0.37267	0.121;0.113;0.245;0.001	T	0.16778	-1.0391	10	0.49607	T	0.09	-2.9958	2.7036	0.05156	0.345:0.0:0.3189:0.3361	.	546;610;575;605	B3KUC3;Q9Y2G4;Q9Y2G4-1;C9JJE8	.;ANKR6_HUMAN;.;.	P	575;610;605;610;546	ENSP00000358416:A575P;ENSP00000345767:A610P;ENSP00000396771:A605P;ENSP00000430985:A610P;ENSP00000429782:A546P	ENSP00000345767:A610P	A	+	1	0	ANKRD6	90397088	0.998000	0.40836	0.999000	0.59377	0.440000	0.31957	1.391000	0.34475	0.791000	0.33826	0.563000	0.77884	GCT		0.582	ANKRD6-006	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000376594.1			9	29	0	0	0	1	0	9	29					C	90340367	G	C	90340367	3	2	244	1	0	0	0	0	1	0	0	0	685	1203	42	5	1871	5	ANKRD6	6	90340367	Missense_Mutation	SNP	G	TCGA-HC-A6AN-01A-11D-A30E-08	87506141	90340367	80774700	24	11483											
REV3L	5980	broad.mit.edu	37	chr6	111685156	111685156	+	Frame_Shift_Del	DEL	G	G	-																															tctgagaagtttctttctgtGgggtatttactgctgcaaat																										TCGA-HC-A6AN-01A-11D-A30E-08	TCGA-HC-A6AN-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	046c8e49-c295-4b2f-ad1a-da6cb0958544	5318522e-d56a-4eb2-88ae-b76fcf183a78	g.chr6:111685156delG	ENST00000358835.3	-	17	7233	c.6779delC	c.(6778-6780)ccafs	p.P2260fs	REV3L-IT1_ENST00000411895.1_RNA|REV3L_ENST00000368805.1_Frame_Shift_Del_p.P2260fs|REV3L_ENST00000368802.3_Frame_Shift_Del_p.P2260fs|REV3L_ENST00000435970.1_Frame_Shift_Del_p.P2182fs			O60673	DPOLZ_HUMAN	REV3-like, polymerase (DNA directed), zeta, catalytic subunit	2260					DNA-dependent DNA replication (GO:0006261)|translesion synthesis (GO:0019985)	chromosome (GO:0005694)|nucleus (GO:0005634)|zeta DNA polymerase complex (GO:0016035)	4 iron, 4 sulfur cluster binding (GO:0051539)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)			NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		TTCTTTCTGTGGGGTATTTAC	0.338								DNA polymerases (catalytic subunits)																														ENST00000435970.1																			0				NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88						c.(6544-6546)cafs	DNA polymerases (catalytic subunits)	REV3-like, polymerase (DNA directed), zeta, catalytic subunit							110	101	104					6																	111685156		2203	4300	6503	SO:0001589	frameshift_variant	5980				DNA-dependent DNA replication|translesion synthesis	nucleus|zeta DNA polymerase complex	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding	g.chr6:111685156delG	AF058701	CCDS5091.2, CCDS69177.1	6q22	2012-05-18	2012-05-18		ENSG00000009413	ENSG00000009413		"DNA polymerases"	9968	protein-coding gene	gene with protein product	"polymerase, DNA, zeta"	602776	"REV3 (yeast homolog)-like, catalytic subunit of DNA polymerase zeta", "REV3-like, catalytic subunit of DNA polymerase zeta (yeast)"			9618506, 9925914	Standard	NM_001286431		Approved	POLZ, REV3	uc003puy.4	O60673	OTTHUMG00000016318	ENST00000358835.3:c.6779delC	6.37:g.111685156delG	ENSP00000351697:p.Pro2260fs					REV3L_ENST00000368802.3_Frame_Shift_Del_p.P2260fs|REV3L_ENST00000368805.1_Frame_Shift_Del_p.P2260fs|REV3L_ENST00000358835.3_Frame_Shift_Del_p.P2260fs	p.P2182fs			O60673	DPOLZ_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)	18	7361	-		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)	2260					O43214|Q5TC33	Frame_Shift_Del	DEL	ENST00000358835.3	37	c.6545delC	CCDS5091.2																																																																																				0.338	REV3L-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043695.1	NM_002912		33	71						33	71	---	---	---	---	-	111685156	G	-	111685156	7	5	244	1	0	1	0	1	0	0	0	0	13240	1348	47	0	2681	0	REV3L	6	111685156	Frame_Shift_Del	DEL	G	TCGA-HC-A6AN-01A-11D-A30E-08	21344789	111685156	59429911	25	11484											
ADAP1	11033	broad.mit.edu	37	chr7	939748	939748	+	Silent	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcacacccaccttgggcccCgtcttctccatgtagccttc	5	10	8	18	1	2	0	0	0	2	0	4	0	2	0	6	2	1	2	6	2	1	4	rs139452042		TCGA-HC-A6AN-01A-11D-A30E-08	TCGA-HC-A6AN-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	046c8e49-c295-4b2f-ad1a-da6cb0958544	5318522e-d56a-4eb2-88ae-b76fcf183a78	g.chr7:939748C>G	ENST00000265846.5	-	8	1005	c.786G>C	c.(784-786)acG>acC	p.T262T	ADAP1_ENST00000449296.2_Silent_p.T190T|ADAP1_ENST00000539900.1_Silent_p.T273T	NM_001284308.1|NM_001284309.1|NM_001284311.1|NM_006869.2	NP_001271237.1|NP_001271238.1|NP_001271240.1|NP_006860	O75689	ADAP1_HUMAN	ArfGAP with dual PH domains 1	262	PH 2. {ECO:0000255|PROSITE- ProRule:PRU00145}.				cell surface receptor signaling pathway (GO:0007166)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF GTPase activity (GO:0032312)|regulation of GTPase activity (GO:0043087)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ARF GTPase activator activity (GO:0008060)|inositol 1,3,4,5 tetrakisphosphate binding (GO:0043533)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|lung(3)|upper_aerodigestive_tract(1)	6						CCTTGGGCCCCGTCTTCTCCA	0.647																																						ENST00000265846.5																			0				endometrium(1)|kidney(1)|lung(3)|upper_aerodigestive_tract(1)	6						c.(784-786)acG>acC		ArfGAP with dual PH domains 1							130	118	122					7																	939748		2203	4300	6503	SO:0001819	synonymous_variant	11033				cell surface receptor linked signaling pathway|regulation of ARF GTPase activity	cytoplasm|nucleus|plasma membrane	ARF GTPase activator activity|inositol 1,3,4,5 tetrakisphosphate binding|protein binding|zinc ion binding	g.chr7:939748C>G	AJ006422	CCDS5318.1, CCDS64576.1, CCDS64577.1, CCDS75558.1	7p22.3	2013-01-10	2008-09-22	2008-09-22	ENSG00000105963	ENSG00000105963		"ADP-ribosylation factor GTPase activating proteins", "Pleckstrin homology (PH) domain containing"	16486	protein-coding gene	gene with protein product		608114	"centaurin, alpha 1"	CENTA1		10333475	Standard	NM_006869		Approved	GCS1L	uc003sjo.4	O75689	OTTHUMG00000023380	ENST00000265846.5:c.786G>C	7.37:g.939748C>G						ADAP1_ENST00000539900.1_Silent_p.T273T|ADAP1_ENST00000449296.2_Silent_p.T190T	p.T262T	NM_006869.2	NP_006860.1	O75689	ADAP1_HUMAN			8	1005	-			262			PH 2.		A4D2Q2|B3KRZ4|B4DVA6|F6XZ68|H7C2Q4	Silent	SNP	ENST00000265846.5	37	c.786G>C	CCDS5318.1	.	.	.	.	.	.	.	.	.	.	c	1.235	-0.622918	0.03636	.	.	ENSG00000105963	ENST00000446141;ENST00000437486	.	.	.	4.22	-8.16	0.01061	.	.	.	.	.	T	0.46600	0.1401	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.52079	-0.8623	4	.	.	.	-13.6862	7.4618	0.27300	0.0:0.2535:0.2519:0.4946	.	.	.	.	P	245;196	.	.	R	-	2	0	ADAP1	906274	0.000000	0.05858	0.925000	0.36789	0.121000	0.20230	-9.208000	0.00013	-1.742000	0.01342	-1.168000	0.01747	CGG		0.647	ADAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059701.2	NM_006869		51	138	0	0	0	1	0	51	138					G	939748	C	G	939748	2	3	244	1	0	0	0	0	0	0	0	1	279	639	23	5		5	ADAP1	7	939748	Silent	SNP	C	TCGA-HC-A6AN-01A-11D-A30E-08		939748	158198915	26	11485											
CCDC129	223075	broad.mit.edu	37	chr7	31690866	31690866	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggccctcttttccagggaCatgtcagaggaggaaaggta	11	8	13	9	0	2	1	1	0	1	1	3	4	3	4	2	5	0	1	2	5	2	3			TCGA-HC-A6AN-01A-11D-A30E-08	TCGA-HC-A6AN-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	046c8e49-c295-4b2f-ad1a-da6cb0958544	5318522e-d56a-4eb2-88ae-b76fcf183a78	g.chr7:31690866C>A	ENST00000407970.3	+	12	2732	c.2694C>A	c.(2692-2694)gaC>gaA	p.D898E	CCDC129_ENST00000409210.1_Missense_Mutation_p.D806E|CCDC129_ENST00000319386.3_Missense_Mutation_p.D750E|CCDC129_ENST00000451887.2_Missense_Mutation_p.D924E	NM_001257967.1|NM_194300.3	NP_001244896.1|NP_919276.2	Q6ZRS4	CC129_HUMAN	coiled-coil domain containing 129	898										cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31)	44						TTTCCAGGGACATGTCAGAGG	0.473																																						ENST00000319386.3																			0				cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31)	44						c.(2248-2250)gaC>gaA		coiled-coil domain containing 129							95	95	95					7																	31690866		2203	4300	6503	SO:0001583	missense	223075							g.chr7:31690866C>A	AK128026	CCDS5435.2, CCDS59050.1, CCDS75577.1	7p14.3	2006-08-21			ENSG00000180347	ENSG00000180347			27363	protein-coding gene	gene with protein product						14702039	Standard	NM_001257967		Approved	FLJ38344	uc011kad.1	Q6ZRS4	OTTHUMG00000128611	ENST00000407970.3:c.2694C>A	7.37:g.31690866C>A	ENSP00000384416:p.Asp898Glu					CCDC129_ENST00000451887.2_Missense_Mutation_p.D924E|CCDC129_ENST00000407970.3_Missense_Mutation_p.D898E|CCDC129_ENST00000409210.1_Missense_Mutation_p.D806E	p.D750E			Q6ZRS4	CC129_HUMAN			12	3243	+			898					A2RU17|B3KTI9|B4DHB0|B4E2R1|F5H3V5	Missense_Mutation	SNP	ENST00000407970.3	37	c.2250C>A	CCDS5435.2	.	.	.	.	.	.	.	.	.	.	C	15.70	2.910813	0.52439	.	.	ENSG00000180347	ENST00000319386;ENST00000407970;ENST00000451887;ENST00000538406;ENST00000409210	T;T;T;T	0.33438	1.41;1.41;1.41;1.41	5.81	2.97	0.34412	.	0.326457	0.26380	N	0.024705	T	0.39253	0.1071	M	0.66939	2.045	0.20074	N	0.999931	D;B;B;B	0.55605	0.972;0.049;0.049;0.29	P;B;B;B	0.53912	0.737;0.085;0.085;0.185	T	0.15093	-1.0449	10	0.42905	T	0.14	-5.1573	6.3051	0.21135	0.0:0.6846:0.1503:0.1651	.	924;908;898;750	F5H3V5;F5H2J8;Q6ZRS4;Q6ZRS4-2	.;.;CC129_HUMAN;.	E	750;898;924;908;806	ENSP00000313062:D750E;ENSP00000384416:D898E;ENSP00000395835:D924E;ENSP00000387214:D806E	ENSP00000313062:D750E	D	+	3	2	CCDC129	31657391	0.997000	0.39634	0.985000	0.45067	0.678000	0.39670	0.488000	0.22371	0.818000	0.34468	-0.145000	0.13849	GAC		0.473	CCDC129-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318975.1	NM_194300		38	97	1	0	1.69901e-12	1	1.93687e-12	38	97					A	31690866	C	A	31690866	3	1	244	1	0	0	0	0	1	0	0	0	2764	477	17	5	2736	5	CCDC129	7	31690866	Missense_Mutation	SNP	C	TCGA-HC-A6AN-01A-11D-A30E-08	30751118	31690866	127447797	27	11486											
MAGI2	9863	broad.mit.edu	37	chr7	77764435	77764435	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgatgatagactggccattCactgctaggatccggtctcc	8	12	10	11	1	2	3	1	2	1	1	4	4	3	4	3	3	1	1	3	3	2	4			TCGA-HC-A6AN-01A-11D-A30E-08	TCGA-HC-A6AN-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	046c8e49-c295-4b2f-ad1a-da6cb0958544	5318522e-d56a-4eb2-88ae-b76fcf183a78	g.chr7:77764435C>A	ENST00000354212.4	-	17	3187	c.2934G>T	c.(2932-2934)gtG>gtT	p.V978V	MAGI2_ENST00000522391.1_Silent_p.V978V|MAGI2_ENST00000419488.1_Silent_p.V964V	NM_012301.3	NP_036433.2	Q86UL8	MAGI2_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 2	978	PDZ 5. {ECO:0000255|PROSITE- ProRule:PRU00143}.				cellular response to nerve growth factor stimulus (GO:1990090)|cytoplasmic transport (GO:0016482)|glomerular visceral epithelial cell development (GO:0072015)|mitotic cell cycle arrest (GO:0071850)|negative regulation of activin receptor signaling pathway (GO:0032926)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein kinase B signaling (GO:0051898)|nerve growth factor signaling pathway (GO:0038180)|planar cell polarity pathway involved in axis elongation (GO:0003402)|positive regulation of neuron projection development (GO:0010976)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of receptor internalization (GO:0002092)|protein heterooligomerization (GO:0051291)|receptor clustering (GO:0043113)|SMAD protein signal transduction (GO:0060395)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|late endosome (GO:0005770)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|protein complex (GO:0043234)|slit diaphragm (GO:0036057)|synapse (GO:0045202)|tight junction (GO:0005923)	beta-1 adrenergic receptor binding (GO:0031697)|phosphatase binding (GO:0019902)|receptor signaling complex scaffold activity (GO:0030159)|signal transducer activity (GO:0004871)|SMAD binding (GO:0046332)|type II activin receptor binding (GO:0070699)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				ACTGGCCATTCACTGCTAGGA	0.502																																						ENST00000354212.4																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84						c.(2932-2934)gtG>gtT		membrane associated guanylate kinase, WW and PDZ domain containing 2							250	196	214					7																	77764435		2203	4300	6503	SO:0001819	synonymous_variant	9863					cell junction|synapse|synaptosome	phosphatase binding	g.chr7:77764435C>A	AB014605	CCDS5594.1, CCDS75623.1	7q21	2005-08-09			ENSG00000187391	ENSG00000187391			18957	protein-coding gene	gene with protein product		606382				10681527, 9734811	Standard	XM_005250725		Approved	AIP1, ARIP1, KIAA0705, ACVRIP1, MAGI-2	uc003ugx.3	Q86UL8	OTTHUMG00000130697	ENST00000354212.4:c.2934G>T	7.37:g.77764435C>A						MAGI2_ENST00000419488.1_Silent_p.V964V|MAGI2_ENST00000522391.1_Silent_p.V978V	p.V978V	NM_012301.3	NP_036433.2	Q86UL8	MAGI2_HUMAN			17	3187	-		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)	978			PDZ 5.		A4D1C1|A7E2C3|O60434|O60510|Q86UI7|Q9NP44|Q9UDQ5|Q9UDU1	Silent	SNP	ENST00000354212.4	37	c.2934G>T	CCDS5594.1																																																																																				0.502	MAGI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253197.3	NM_012301		31	65	1	0	1.7881e-09	1	1.99847e-09	31	65					A	77764435	C	A	77764435	2	1	244	1	0	0	0	0	0	0	0	1	9191	813	29	5		5	MAGI2	7	77764435	Silent	SNP	C	TCGA-HC-A6AN-01A-11D-A30E-08	46073569	77764435	81374228	28	11487											
ZNF746	155061	broad.mit.edu	37	chr7	149174826	149174826	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcatcaagaggtctggggCgggaactgggggccccgagc	7	5	18	11	2	2	1	1	0	1	1	2	3	2	2	2	6	3	1	2	6	2	0	rs147702038		TCGA-HC-A6AN-01A-11D-A30E-08	TCGA-HC-A6AN-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	046c8e49-c295-4b2f-ad1a-da6cb0958544	5318522e-d56a-4eb2-88ae-b76fcf183a78	g.chr7:149174826C>T	ENST00000340622.3	-	5	821	c.541G>A	c.(541-543)Gcc>Acc	p.A181T	ZNF746_ENST00000458143.2_Missense_Mutation_p.A181T			Q6NUN9	ZN746_HUMAN	zinc finger protein 746	181					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of neuron death (GO:1901216)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34	Melanoma(164;0.165)		OV - Ovarian serous cystadenocarcinoma(82;0.00358)			AGGTCTGGGGCGGGAACTGGG	0.647																																						ENST00000340622.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						c.(541-543)Gcc>Acc		zinc finger protein 746		C	THR/ALA,THR/ALA	0,4404		0,0,2202	15	18	17		541,541	4.9	1	7	dbSNP_134	17	1,8599		0,1,4299	no	missense,missense	ZNF746	NM_001163474.1,NM_152557.4	58,58	0,1,6501	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging	181/646,181/645	149174826	1,13003	2202	4300	6502	SO:0001583	missense	155061				negative regulation of transcription, DNA-dependent|neuron death|regulation of cell death|transcription, DNA-dependent	cytoplasm|nucleus	transcription regulatory region DNA binding|ubiquitin protein ligase binding|zinc ion binding	g.chr7:149174826C>T	AK055975	CCDS5897.1, CCDS55180.1	7q36.1	2013-01-08			ENSG00000181220	ENSG00000181220		"Zinc fingers, C2H2-type", "-"	21948	protein-coding gene	gene with protein product		613914					Standard	NM_152557		Approved	FLJ31413	uc010lpi.2	Q6NUN9	OTTHUMG00000158972	ENST00000340622.3:c.541G>A	7.37:g.149174826C>T	ENSP00000345140:p.Ala181Thr					ZNF746_ENST00000458143.2_Missense_Mutation_p.A181T	p.A181T			Q6NUN9	ZN746_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00358)		5	821	-	Melanoma(164;0.165)		181					A8K6Z9|Q6ZRF9	Missense_Mutation	SNP	ENST00000340622.3	37	c.541G>A	CCDS5897.1	.	.	.	.	.	.	.	.	.	.	C	19.77	3.889995	0.72524	0.0	1.16E-4	ENSG00000181220	ENST00000340622;ENST00000458143	T;T	0.08984	3.09;3.03	4.94	4.94	0.65067	.	0.151159	0.30695	N	0.009065	T	0.16041	0.0386	L	0.36672	1.1	0.39851	D	0.973248	D;D	0.89917	1.0;0.999	D;P	0.67382	0.951;0.894	T	0.12811	-1.0533	10	0.13108	T	0.6	-21.7367	13.6907	0.62544	0.0:1.0:0.0:0.0	.	181;181	Q6NUN9-2;Q6NUN9	.;ZN746_HUMAN	T	181	ENSP00000345140:A181T;ENSP00000395007:A181T	ENSP00000345140:A181T	A	-	1	0	ZNF746	148805759	0.071000	0.21146	1.000000	0.80357	0.550000	0.35303	0.211000	0.17474	2.286000	0.76751	0.563000	0.77884	GCC		0.647	ZNF746-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000352730.1	NM_152557		8	25	0	0	0	1	0	8	25					T	149174826	C	T	149174826	3	4	244	1	0	0	0	0	1	0	0	0	18126	768	27	1	1408	1	ZNF746	7	149174826	Missense_Mutation	SNP	C	TCGA-HC-A6AN-01A-11D-A30E-08	71410391	149174826	9963837	29	11488											
PTPRN2	5799	broad.mit.edu	37	chr7	157931053	157931053	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tctccagactctcccagggcCgctctcccagggctgcctcg	4	8	10	19	2	3	1	0	0	3	1	7	1	3	1	5	2	1	2	5	2	0	0	rs144691858	byFrequency	TCGA-HC-A6AN-01A-11D-A30E-08	TCGA-HC-A6AN-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	046c8e49-c295-4b2f-ad1a-da6cb0958544	5318522e-d56a-4eb2-88ae-b76fcf183a78	g.chr7:157931053C>T	ENST00000389418.4	-	7	1074	c.1065G>A	c.(1063-1065)gcG>gcA	p.A355A	PTPRN2_ENST00000409483.1_Silent_p.A317A|PTPRN2_ENST00000389416.4_Silent_p.A338A|PTPRN2_ENST00000389413.3_Silent_p.A355A|PTPRN2_ENST00000404321.2_Silent_p.A378A	NM_002847.3	NP_002838.2	Q92932	PTPR2_HUMAN	protein tyrosine phosphatase, receptor type, N polypeptide 2	355					negative regulation of GTPase activity (GO:0034260)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	endoplasmic reticulum lumen (GO:0005788)|integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)|secretory granule (GO:0030141)|terminal bouton (GO:0043195)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	86	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)		CTCCCAGGGCCGCTCTCCCAG	0.672																																						ENST00000389413.3																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	86						c.(1063-1065)gcG>gcA		protein tyrosine phosphatase, receptor type, N polypeptide 2							51	54	53					7																	157931053		2203	4300	6503	SO:0001819	synonymous_variant	5799					integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr7:157931053C>T	AB002385	CCDS5947.1, CCDS5948.1, CCDS5949.1	7q36	2011-06-09			ENSG00000155093	ENSG00000155093		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"	9677	protein-coding gene	gene with protein product	"IAR PTPRP"	601698				8954911, 9220540	Standard	NM_130842		Approved	KIAA0387, phogrin, ICAAR, IA-2beta	uc003wno.3	Q92932	OTTHUMG00000152646	ENST00000389418.4:c.1065G>A	7.37:g.157931053C>T						PTPRN2_ENST00000404321.2_Silent_p.A378A|PTPRN2_ENST00000409483.1_Silent_p.A317A|PTPRN2_ENST00000389418.4_Silent_p.A355A|PTPRN2_ENST00000389416.4_Silent_p.A338A	p.A355A	NM_130843.2	NP_570858.2	Q92932	PTPR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)	7	1168	-	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	355					E9PC57|Q8N4I5|Q92662|Q9Y4F8|Q9Y4I6	Silent	SNP	ENST00000389418.4	37	c.1065G>A	CCDS5947.1																																																																																				0.672	PTPRN2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000353214.1			39	41	0	0	0	1	0	39	41					T	157931053	C	T	157931053	2	4	244	1	0	0	0	0	0	0	0	1	12808	639	23	2		2	PTPRN2	7	157931053	Silent	SNP	C	TCGA-HC-A6AN-01A-11D-A30E-08	8756227	157931053	1207610	30	11489											
KCNK9	51305	broad.mit.edu	37	chr8	140715136	140715136	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tttctcctcctcgcgcatctCgtggtccgactcgagggcgt	3	12	11	15	6	2	0	0	0	2	0	8	2	4	0	3	2	0	1	3	2	0	1			TCGA-HC-A6AN-01A-11D-A30E-08	TCGA-HC-A6AN-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	046c8e49-c295-4b2f-ad1a-da6cb0958544	5318522e-d56a-4eb2-88ae-b76fcf183a78	g.chr8:140715136C>T	ENST00000520439.1	-	1	163	c.100G>A	c.(100-102)Gag>Aag	p.E34K	KCNK9_ENST00000303015.1_Missense_Mutation_p.E34K	NM_001282534.1	NP_001269463.1	Q9NPC2	KCNK9_HUMAN	potassium channel, subfamily K, member 9	34					cochlea development (GO:0090102)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	potassium channel activity (GO:0005267)|voltage-gated ion channel activity (GO:0005244)			NS(1)|endometrium(9)|kidney(1)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)	43	all_cancers(97;3.94e-14)|all_epithelial(106;4.81e-13)|Lung NSC(106;8.18e-05)|all_lung(105;0.00015)|Ovarian(258;0.00235)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;0.134)	BRCA - Breast invasive adenocarcinoma(115;0.0855)		Doxapram(DB00561)|Halothane(DB01159)	TCGCGCATCTCGTGGTCCGAC	0.607																																						ENST00000520439.1																			0				NS(1)|endometrium(9)|kidney(1)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)	43						c.(100-102)Gag>Aag		potassium channel, subfamily K, member 9							88	74	79					8																	140715136		2203	4300	6503	SO:0001583	missense	51305					integral to membrane|membrane fraction	potassium channel activity|voltage-gated ion channel activity	g.chr8:140715136C>T	AF212829	CCDS6377.1	8q24.3	2012-03-07			ENSG00000169427	ENSG00000169427		"Potassium channels", "Voltage-gated ion channels / Potassium channels, Two-P"	6283	protein-coding gene	gene with protein product		605874				10734076, 16382106	Standard	NM_001282534		Approved	K2p9.1, TASK3, TASK-3	uc003yvf.1	Q9NPC2	OTTHUMG00000164186	ENST00000520439.1:c.100G>A	8.37:g.140715136C>T	ENSP00000430676:p.Glu34Lys					KCNK9_ENST00000303015.1_Missense_Mutation_p.E34K	p.E34K			Q9NPC2	KCNK9_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0855)		1	163	-	all_cancers(97;3.94e-14)|all_epithelial(106;4.81e-13)|Lung NSC(106;8.18e-05)|all_lung(105;0.00015)|Ovarian(258;0.00235)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;0.134)	34					Q2M290|Q540F2	Missense_Mutation	SNP	ENST00000520439.1	37	c.100G>A	CCDS6377.1	.	.	.	.	.	.	.	.	.	.	C	32	5.160347	0.94727	.	.	ENSG00000169427	ENST00000522317;ENST00000303015;ENST00000520439	T;T;T	0.25749	1.78;1.78;1.78	3.81	3.81	0.43845	.	0.000000	0.64402	D	0.000001	T	0.59865	0.2225	M	0.92268	3.29	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.72969	-0.4130	10	0.87932	D	0	.	15.0272	0.71680	0.0:1.0:0.0:0.0	.	34	Q9NPC2	KCNK9_HUMAN	K	34	ENSP00000429847:E34K;ENSP00000302166:E34K;ENSP00000430676:E34K	ENSP00000302166:E34K	E	-	1	0	KCNK9	140784318	1.000000	0.71417	0.995000	0.50966	0.995000	0.86356	5.313000	0.65798	1.811000	0.52892	0.555000	0.69702	GAG		0.607	KCNK9-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378473.1	NM_016601		6	33	0	0	0	1	0	6	33					T	140715136	C	T	140715136	3	4	244	1	0	0	0	0	1	0	0	0	8072	893	31	2	1032	2	KCNK9	8	140715136	Missense_Mutation	SNP	C	TCGA-HC-A6AN-01A-11D-A30E-08		140715136	5648886	31	11490											
NEBL	10529	broad.mit.edu	37	chr10	21158736	21158736	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtcaagttctgcactgtacGtgtgggtgtcctgcacgtct	5	13	13	10	2	3	0	1	0	2	0	4	0	4	0	1	2	3	4	1	2	2	2	rs548438161		TCGA-HC-A6AN-01A-11D-A30E-08	TCGA-HC-A6AN-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	046c8e49-c295-4b2f-ad1a-da6cb0958544	5318522e-d56a-4eb2-88ae-b76fcf183a78	g.chr10:21158736G>A	ENST00000377122.4	-	6	911	c.515C>T	c.(514-516)aCg>aTg	p.T172M	NEBL_ENST00000377159.4_Intron|NEBL_ENST00000377119.1_Missense_Mutation_p.T172M|NEBL_ENST00000417816.2_Intron	NM_006393.2	NP_006384.1	O76041	NEBL_HUMAN	nebulette	172					cardiac muscle thin filament assembly (GO:0071691)	extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|cytoskeletal protein binding (GO:0008092)|filamin binding (GO:0031005)|structural constituent of muscle (GO:0008307)|tropomyosin binding (GO:0005523)			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						TGCACTGTACGTGTGGGTGTC	0.378																																						ENST00000377122.4																			0				NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						c.(514-516)aCg>aTg		nebulette							212	176	188					10																	21158736		2203	4300	6503	SO:0001583	missense	10529				regulation of actin filament length		actin binding|structural constituent of muscle	g.chr10:21158736G>A	Y16241	CCDS7133.1, CCDS7134.1	10p12	2014-09-17			ENSG00000078114	ENSG00000078114			16932	protein-coding gene	gene with protein product		605491				9733644, 10470015	Standard	NM_213569		Approved		uc001iqi.3	O76041	OTTHUMG00000017788	ENST00000377122.4:c.515C>T	10.37:g.21158736G>A	ENSP00000366326:p.Thr172Met					NEBL_ENST00000417816.2_Intron|NEBL_ENST00000377119.1_Missense_Mutation_p.T172M|NEBL_ENST00000377159.4_Intron	p.T172M	NM_006393.2	NP_006384.1	O76041	NEBL_HUMAN			6	911	-			172					B0YJ45|Q2TBD0|Q70I54|Q9UIC4	Missense_Mutation	SNP	ENST00000377122.4	37	c.515C>T	CCDS7134.1	.	.	.	.	.	.	.	.	.	.	G	6.904	0.536265	0.13188	.	.	ENSG00000078114	ENST00000377122;ENST00000377119	T;T	0.19669	3.4;2.13	5.97	-3.84	0.04256	.	0.704316	0.14904	N	0.291621	T	0.10465	0.0256	L	0.29908	0.895	0.09310	N	1	B	0.16166	0.016	B	0.14578	0.011	T	0.17379	-1.0371	10	0.44086	T	0.13	.	2.734	0.05235	0.3257:0.088:0.4106:0.1757	.	172	O76041	NEBL_HUMAN	M	172	ENSP00000366326:T172M;ENSP00000366323:T172M	ENSP00000366323:T172M	T	-	2	0	NEBL	21198742	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-0.771000	0.04699	-0.463000	0.06973	0.655000	0.94253	ACG		0.378	NEBL-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000047113.1	NM_006393		24	42	0	0	0	1	0	24	42					A	21158736	G	A	21158736	3	1	244	1	0	0	0	0	1	0	0	0	10303	1145	40	1	2621	1	NEBL	10	21158736	Missense_Mutation	SNP	G	TCGA-HC-A6AN-01A-11D-A30E-08		21158736	114376011	32	11491											
OR5P3	120066	broad.mit.edu	37	chr11	7846675	7846675	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcagggggttcaacatgggaAtcaccacggtgtagaacaca	13	7	12	9	1	3	1	3	0	0	1	3	2	3	2	1	4	2	2	1	4	4	2			TCGA-HC-A6AN-01A-11D-A30E-08	TCGA-HC-A6AN-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	046c8e49-c295-4b2f-ad1a-da6cb0958544	5318522e-d56a-4eb2-88ae-b76fcf183a78	g.chr11:7846675A>G	ENST00000328375.1	-	1	844	c.845T>C	c.(844-846)aTt>aCt	p.I282T	RP11-35J10.5_ENST00000527565.1_lincRNA	NM_153445.1	NP_703146.1	Q8WZ94	OR5P3_HUMAN	olfactory receptor, family 5, subfamily P, member 3	282						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			autonomic_ganglia(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(2)|upper_aerodigestive_tract(1)	15				Epithelial(150;8.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		CAACATGGGAATCACCACGGT	0.443																																						ENST00000328375.1																			0				autonomic_ganglia(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(2)|upper_aerodigestive_tract(1)	15						c.(844-846)aTt>aCt		olfactory receptor, family 5, subfamily P, member 3							96	91	93					11																	7846675		2189	4296	6485	SO:0001583	missense	120066				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:7846675A>G	AF158377	CCDS7783.1	11p15.4	2012-08-09			ENSG00000182334	ENSG00000182334		"GPCR / Class A : Olfactory receptors"	14784	protein-coding gene	gene with protein product							Standard	NM_153445		Approved	JCG1	uc010rbg.2	Q8WZ94	OTTHUMG00000165669	ENST00000328375.1:c.845T>C	11.37:g.7846675A>G	ENSP00000332068:p.Ile282Thr					RP11-35J10.5_ENST00000527565.1_lincRNA	p.I282T	NM_153445.1	NP_703146.1	Q8WZ94	OR5P3_HUMAN		Epithelial(150;8.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)	1	844	-			282					Q6IFE1|Q8NGM2	Missense_Mutation	SNP	ENST00000328375.1	37	c.845T>C	CCDS7783.1	.	.	.	.	.	.	.	.	.	.	A	13.01	2.108528	0.37242	.	.	ENSG00000182334	ENST00000328375	T	0.36157	1.27	4.74	4.74	0.60224	GPCR, rhodopsin-like superfamily (1);	0.000000	0.51477	D	0.000084	T	0.29716	0.0742	N	0.21194	0.64	0.24804	N	0.992687	B	0.32604	0.377	B	0.41202	0.35	T	0.27434	-1.0074	10	0.72032	D	0.01	-26.1163	8.5125	0.33226	0.8038:0.1962:0.0:0.0	.	282	Q8WZ94	OR5P3_HUMAN	T	282	ENSP00000332068:I282T	ENSP00000332068:I282T	I	-	2	0	OR5P3	7803251	0.004000	0.15560	0.967000	0.41034	0.743000	0.42351	0.737000	0.26144	1.987000	0.57996	0.528000	0.53228	ATT		0.443	OR5P3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385697.1	NM_153445		20	50	0	0	0	1	0	20	50					G	7846675	A	G	7846675	3	3	244	1	0	0	0	0	1	0	0	0	11179	101	4	4	93	4	OR5P3	11	7846675	Missense_Mutation	SNP	A	TCGA-HC-A6AN-01A-11D-A30E-08		7846675	127159841	33	11492											
OR8B2	26595	broad.mit.edu	37	chr11	124252655	124252655	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acaatgagaacaaccacctcGttgacataggtgctggtgca	13	8	10	10	1	0	2	0	2	0	1	1	3	0	2	2	2	4	3	2	2	4	2			TCGA-HC-A6AN-01A-11D-A30E-08	TCGA-HC-A6AN-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	046c8e49-c295-4b2f-ad1a-da6cb0958544	5318522e-d56a-4eb2-88ae-b76fcf183a78	g.chr11:124252655G>A	ENST00000375013.2	-	1	603	c.585C>T	c.(583-585)aaC>aaT	p.N195N		NM_001005468.1	NP_001005468.1	Q96RD0	OR8B2_HUMAN	olfactory receptor, family 8, subfamily B, member 2	195						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(13)|ovary(1)	23		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277)		CAACCACCTCGTTGACATAGG	0.438																																						ENST00000375013.2																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(13)|ovary(1)	23						c.(583-585)aaC>aaT		olfactory receptor, family 8, subfamily B, member 2							90	91	91					11																	124252655		2201	4299	6500	SO:0001819	synonymous_variant	26595				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:124252655G>A	AB065826	CCDS31708.1	11q24.1	2012-08-09			ENSG00000204293	ENSG00000204293		"GPCR / Class A : Olfactory receptors"	8471	protein-coding gene	gene with protein product							Standard	XM_005271500		Approved		uc010sai.2	Q96RD0	OTTHUMG00000165982	ENST00000375013.2:c.585C>T	11.37:g.124252655G>A							p.N195N	NM_001005468.1	NP_001005468.1	Q96RD0	OR8B2_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277)	1	603	-		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)	195					Q8NGH2	Silent	SNP	ENST00000375013.2	37	c.585C>T	CCDS31708.1																																																																																				0.438	OR8B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387290.1	NM_001005468		37	90	0	0	0	1	0	37	90					A	124252655	G	A	124252655	2	1	244	1	0	0	0	0	0	0	0	1	11227	1136	40	1		1	OR8B2	11	124252655	Silent	SNP	G	TCGA-HC-A6AN-01A-11D-A30E-08	116405980	124252655	10753861	34	11493											
KCNJ5	3762	broad.mit.edu	37	chr11	128781968	128781968	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttgacacgggcgacgaccGcctcttccttgtgtctcctc	4	12	9	16	4	2	1	0	1	2	0	5	3	3	1	4	1	0	0	4	1	0	3			TCGA-HC-A6AN-01A-11D-A30E-08	TCGA-HC-A6AN-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	046c8e49-c295-4b2f-ad1a-da6cb0958544	5318522e-d56a-4eb2-88ae-b76fcf183a78	g.chr11:128781968G>T	ENST00000338350.4	+	3	1152	c.800G>T	c.(799-801)cGc>cTc	p.R267L	KCNJ5_ENST00000533599.1_Missense_Mutation_p.R267L|KCNJ5_ENST00000529694.1_Missense_Mutation_p.R267L			P48544	KCNJ5_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 5	267					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	G-protein activated inward rectifier potassium channel activity (GO:0015467)			NS(1)|breast(1)|endometrium(4)|large_intestine(4)|liver(2)|lung(9)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	26	all_hematologic(175;0.0641)	Lung NSC(97;0.00038)|all_lung(97;0.000817)|Breast(109;0.00123)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0059)|LUSC - Lung squamous cell carcinoma(976;0.021)|Lung(977;0.0215)	Glyburide(DB01016)	GGCGACGACCGCCTCTTCCTT	0.552																																					Pancreas(108;2548 5082)|Esophageal Squamous(165;4544 6231)	ENST00000529694.1																			0				NS(1)|breast(1)|endometrium(4)|large_intestine(4)|liver(2)|lung(9)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	26						c.(799-801)cGc>cTc		potassium inwardly-rectifying channel, subfamily J, member 5	Glibenclamide(DB01016)						77	84	81					11																	128781968		2201	4297	6498	SO:0001583	missense	3762				synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding	g.chr11:128781968G>T	D50134	CCDS8479.1	11q24	2014-09-17				ENSG00000120457		"Potassium channels", "Voltage-gated ion channels / Potassium channels, Inwardly rectifying"	6266	protein-coding gene	gene with protein product		600734				16382105	Standard	NM_000890		Approved	Kir3.4, CIR, KATP1, GIRK4, LQT13	uc001qet.3	P48544		ENST00000338350.4:c.800G>T	11.37:g.128781968G>T	ENSP00000339960:p.Arg267Leu					KCNJ5_ENST00000338350.4_Missense_Mutation_p.R267L|KCNJ5_ENST00000533599.1_Missense_Mutation_p.R267L	p.R267L	NM_000890.3	NP_000881.3	P48544	IRK5_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.0059)|LUSC - Lung squamous cell carcinoma(976;0.021)|Lung(977;0.0215)	2	1176	+	all_hematologic(175;0.0641)	Lung NSC(97;0.00038)|all_lung(97;0.000817)|Breast(109;0.00123)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)	267					B2R744|Q6DK13|Q6DK14|Q92807	Missense_Mutation	SNP	ENST00000338350.4	37	c.800G>T	CCDS8479.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.979664	0.74360	.	.	ENSG00000120457	ENST00000529694;ENST00000338350;ENST00000533599	D;D;D	0.94497	-3.44;-3.44;-3.44	5.46	4.54	0.55810	Immunoglobulin E-set (1);Potassium channel, inwardly rectifying, Kir, conserved region 2 (1);Potassium channel, inwardly rectifying, Kir, cytoplasmic (1);	0.000000	0.85682	D	0.000000	D	0.98021	0.9348	H	0.94345	3.525	0.47374	D	0.9994	D	0.89917	1.0	D	0.85130	0.997	D	0.99201	1.0873	10	0.87932	D	0	.	16.283	0.82707	0.0:0.1326:0.8674:0.0	.	267	P48544	IRK5_HUMAN	L	267	ENSP00000433295:R267L;ENSP00000339960:R267L;ENSP00000434266:R267L	ENSP00000339960:R267L	R	+	2	0	KCNJ5	128287178	1.000000	0.71417	0.976000	0.42696	0.978000	0.69477	8.062000	0.89475	1.284000	0.44531	0.561000	0.74099	CGC		0.552	KCNJ5-003	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000386239.1	NM_000890		46	89	1	0	2.81305e-35	1	3.3405e-35	46	89					T	128781968	G	T	128781968	3	4	244	1	0	0	0	0	1	0	0	0	8054	1087	38	5	802	5	KCNJ5	11	128781968	Missense_Mutation	SNP	G	TCGA-HC-A6AN-01A-11D-A30E-08	4529313	128781968	6224548	35	11494											
VWF	7450	broad.mit.edu	37	chr12	6125273	6125273	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actgttggacctggcggcatCagctgctgcatccactgaat	8	10	11	12	1	1	1	1	1	0	0	2	2	2	2	2	3	3	5	2	3	1	1			TCGA-HC-A6AN-01A-11D-A30E-08	TCGA-HC-A6AN-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	046c8e49-c295-4b2f-ad1a-da6cb0958544	5318522e-d56a-4eb2-88ae-b76fcf183a78	g.chr12:6125273C>A	ENST00000261405.5	-	31	5691	c.5437G>T	c.(5437-5439)Gat>Tat	p.D1813Y		NM_000552.3	NP_000543	P04275	VWF_HUMAN	von Willebrand factor	1813	VWFA 3; main binding site for collagens type I and III. {ECO:0000255|PROSITE- ProRule:PRU00219}.				blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|cell-substrate adhesion (GO:0031589)|extracellular matrix organization (GO:0030198)|hemostasis (GO:0007599)|liver development (GO:0001889)|placenta development (GO:0001890)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|protein homooligomerization (GO:0051260)|response to wounding (GO:0009611)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|proteinaceous extracellular matrix (GO:0005578)|Weibel-Palade body (GO:0033093)	chaperone binding (GO:0051087)|collagen binding (GO:0005518)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|immunoglobulin binding (GO:0019865)|integrin binding (GO:0005178)|protease binding (GO:0002020)|protein homodimerization activity (GO:0042803)|protein N-terminus binding (GO:0047485)			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	CTGGCGGCATCAGCTGCTGCA	0.517																																						ENST00000261405.5																			0				NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129						c.(5437-5439)Gat>Tat		von Willebrand factor	Antihemophilic Factor(DB00025)						47	44	45					12																	6125273		2203	4300	6503	SO:0001583	missense	7450				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding	g.chr12:6125273C>A		CCDS8539.1	12p13.3	2014-09-17			ENSG00000110799	ENSG00000110799		"Endogenous ligands"	12726	protein-coding gene	gene with protein product		613160		F8VWF		2251280	Standard	NM_000552		Approved		uc001qnn.1	P04275	OTTHUMG00000168265	ENST00000261405.5:c.5437G>T	12.37:g.6125273C>A	ENSP00000261405:p.Asp1813Tyr						p.D1813Y	NM_000552.3	NP_000543.2	P04275	VWF_HUMAN			31	5691	-			1813			VWFA 3; main binding site for collagens type I and III.		Q8TCE8|Q99806	Missense_Mutation	SNP	ENST00000261405.5	37	c.5437G>T	CCDS8539.1	.	.	.	.	.	.	.	.	.	.	.	9.520	1.108064	0.20714	.	.	ENSG00000110799	ENST00000261405	T	0.77877	-1.13	5.11	2.19	0.27852	von Willebrand factor, type A (3);	0.866627	0.09747	N	0.761092	T	0.70316	0.3210	L	0.42245	1.32	0.09310	N	1	P	0.37573	0.6	B	0.42282	0.382	T	0.55711	-0.8098	10	0.27082	T	0.32	.	4.8886	0.13715	0.0:0.4587:0.2928:0.2485	.	1813	P04275	VWF_HUMAN	Y	1813	ENSP00000261405:D1813Y	ENSP00000261405:D1813Y	D	-	1	0	VWF	5995534	0.000000	0.05858	0.000000	0.03702	0.545000	0.35147	0.206000	0.17375	0.155000	0.19261	0.555000	0.69702	GAT		0.517	VWF-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399020.1	NM_000552		10	44	1	0	6.40141e-05	1	6.75704e-05	10	44					A	6125273	C	A	6125273	3	1	244	1	0	0	0	0	1	0	0	0	17243	826	29	5	3092	5	VWF	12	6125273	Missense_Mutation	SNP	C	TCGA-HC-A6AN-01A-11D-A30E-08		6125273	127726622	36	11495											
RNF6	6049	broad.mit.edu	37	chr13	26789603	26789603	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctccattgttcgggtttgttCgactcacagctctccaagtt	6	15	8	12	2	2	0	1	0	1	0	6	1	3	0	2	1	1	5	2	1	1	5			TCGA-HC-A6AN-01A-11D-A30E-08	TCGA-HC-A6AN-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	046c8e49-c295-4b2f-ad1a-da6cb0958544	5318522e-d56a-4eb2-88ae-b76fcf183a78	g.chr13:26789603C>T	ENST00000381588.4	-	5	1168	c.416G>A	c.(415-417)cGa>cAa	p.R139Q	RNF6_ENST00000468480.1_Intron|RNF6_ENST00000346166.3_Missense_Mutation_p.R139Q|RNF6_ENST00000381570.3_Missense_Mutation_p.R139Q|RNF6_ENST00000399762.2_Intron	NM_005977.3	NP_005968.1	Q9Y252	RNF6_HUMAN	ring finger protein (C3H2C3 type) 6	139					negative regulation of axon extension (GO:0030517)|positive regulation of transcription, DNA-templated (GO:0045893)|protein K27-linked ubiquitination (GO:0044314)|protein K48-linked ubiquitination (GO:0070936)|protein K6-linked ubiquitination (GO:0085020)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of transcription, DNA-templated (GO:0006355)|ubiquitin-dependent protein catabolic process (GO:0006511)	axon (GO:0030424)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|PML body (GO:0016605)	androgen receptor binding (GO:0050681)|DNA binding (GO:0003677)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|kidney(1)|large_intestine(9)|lung(3)|ovary(2)|prostate(2)|skin(2)	23	Colorectal(5;0.000442)	Lung SC(185;0.0156)|Breast(139;0.147)		all cancers(112;0.00893)|Epithelial(112;0.0481)|OV - Ovarian serous cystadenocarcinoma(117;0.148)|GBM - Glioblastoma multiforme(144;0.23)|Lung(94;0.245)		CGGGTTTGTTCGACTCACAGC	0.403																																						ENST00000381588.4																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(9)|lung(3)|ovary(2)|prostate(2)|skin(2)	23						c.(415-417)cGa>cAa		ring finger protein (C3H2C3 type) 6							116	96	103					13																	26789603		2203	4300	6503	SO:0001583	missense	6049				negative regulation of axon extension|positive regulation of transcription, DNA-dependent|protein K27-linked ubiquitination|protein K48-linked ubiquitination|protein K6-linked ubiquitination|regulation of androgen receptor signaling pathway|ubiquitin-dependent protein catabolic process	axon|cytoplasm|PML body	androgen receptor binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr13:26789603C>T	AJ010346	CCDS9316.1	13q12.2	2013-01-09			ENSG00000127870	ENSG00000127870		"RING-type (C3HC4) zinc fingers"	10069	protein-coding gene	gene with protein product	"RING-H2 protein RNF-6"	604242				10331950	Standard	NM_005977		Approved	DKFZp686P0776	uc001uqq.3	Q9Y252	OTTHUMG00000016614	ENST00000381588.4:c.416G>A	13.37:g.26789603C>T	ENSP00000371000:p.Arg139Gln					RNF6_ENST00000346166.3_Missense_Mutation_p.R139Q|RNF6_ENST00000468480.1_Intron|RNF6_ENST00000399762.2_Intron|RNF6_ENST00000381570.3_Missense_Mutation_p.R139Q	p.R139Q	NM_005977.3	NP_005968.1	Q9Y252	RNF6_HUMAN		all cancers(112;0.00893)|Epithelial(112;0.0481)|OV - Ovarian serous cystadenocarcinoma(117;0.148)|GBM - Glioblastoma multiforme(144;0.23)|Lung(94;0.245)	5	1168	-	Colorectal(5;0.000442)	Lung SC(185;0.0156)|Breast(139;0.147)	139					B4DDP0|Q5W0H0|Q9BZP5|Q9UF41	Missense_Mutation	SNP	ENST00000381588.4	37	c.416G>A	CCDS9316.1	.	.	.	.	.	.	.	.	.	.	C	18.08	3.543314	0.65198	.	.	ENSG00000127870	ENST00000346166;ENST00000381588;ENST00000381570	T;T;T	0.12039	2.72;2.72;2.72	4.49	4.49	0.54785	.	0.000000	0.64402	D	0.000006	T	0.14141	0.0342	L	0.42581	1.335	0.80722	D	1	D	0.63046	0.992	B	0.44085	0.44	T	0.01409	-1.1362	10	0.46703	T	0.11	-12.0354	11.8905	0.52626	0.0:0.9156:0.0:0.0844	.	139	Q9Y252	RNF6_HUMAN	Q	139	ENSP00000342121:R139Q;ENSP00000371000:R139Q;ENSP00000370982:R139Q	ENSP00000342121:R139Q	R	-	2	0	RNF6	25687603	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.573000	0.67417	2.330000	0.79161	0.557000	0.71058	CGA		0.403	RNF6-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044246.2	NM_005977		6	91	0	0	0	1	0	6	91					T	26789603	C	T	26789603	3	4	244	1	0	0	0	0	1	0	0	0	13498	884	31	2	1645	2	RNF6	13	26789603	Missense_Mutation	SNP	C	TCGA-HC-A6AN-01A-11D-A30E-08		26789603	88380275	37	11496											
FBN1	2200	broad.mit.edu	37	chr15	48713823	48713823	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacaggtgaagcttccaggaGtgttctggcaaatgccctta	10	10	11	10	0	1	1	0	1	1	0	2	2	2	2	2	3	2	3	2	3	3	3			TCGA-HC-A6AN-01A-11D-A30E-08	TCGA-HC-A6AN-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	046c8e49-c295-4b2f-ad1a-da6cb0958544	5318522e-d56a-4eb2-88ae-b76fcf183a78	g.chr15:48713823G>A	ENST00000316623.5	-	62	8086	c.7631C>T	c.(7630-7632)aCt>aTt	p.T2544I		NM_000138.4	NP_000129	P35555	FBN1_HUMAN	fibrillin 1	2544	EGF-like 44; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|kidney development (GO:0001822)|sequestering of BMP in extracellular matrix (GO:0035582)|sequestering of TGFbeta in extracellular matrix (GO:0035583)|skeletal system development (GO:0001501)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		GCTTCCAGGAGTGTTCTGGCA	0.527																																						ENST00000316623.5																			0				NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139						c.(7630-7632)aCt>aTt		fibrillin 1							58	55	56					15																	48713823		2198	4296	6494	SO:0001583	missense	2200				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding	g.chr15:48713823G>A	X63556	CCDS32232.1	15q21.1	2014-09-17	2006-04-25			ENSG00000166147			3603	protein-coding gene	gene with protein product	"Marfan syndrome"	134797	"fibrillin 1 (Marfan syndrome)"	FBN, MFS1, WMS		10036187, 12525539	Standard	NM_000138		Approved	MASS, OCTD, SGS	uc001zwx.2	P35555		ENST00000316623.5:c.7631C>T	15.37:g.48713823G>A	ENSP00000325527:p.Thr2544Ile						p.T2544I	NM_000138.4	NP_000129.3	P35555	FBN1_HUMAN		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)	62	8086	-		all_lung(180;0.00279)	2544			EGF-like 44; calcium-binding.		B2RUU0|D2JYH6|Q15972|Q75N87	Missense_Mutation	SNP	ENST00000316623.5	37	c.7631C>T	CCDS32232.1	.	.	.	.	.	.	.	.	.	.	G	25.9	4.689379	0.88735	.	.	ENSG00000166147	ENST00000316623	D	0.92911	-3.13	6.02	6.02	0.97574	EGF-like calcium-binding, conserved site (1);Growth factor, receptor (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.047186	0.85682	D	0.000000	D	0.95579	0.8563	M	0.76170	2.325	0.80722	D	1	D	0.59767	0.986	P	0.60473	0.875	D	0.94943	0.8093	10	0.56958	D	0.05	.	20.1358	0.98028	0.0:0.0:1.0:0.0	.	2544	P35555	FBN1_HUMAN	I	2544	ENSP00000325527:T2544I	ENSP00000325527:T2544I	T	-	2	0	FBN1	46501115	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	6.542000	0.73869	2.865000	0.98341	0.655000	0.94253	ACT		0.527	FBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417355.1			12	22	0	0	0	1	0	12	22					A	48713823	G	A	48713823	3	1	244	1	0	0	0	0	1	0	0	0	5702	1029	36	3	1004	3	FBN1	15	48713823	Missense_Mutation	SNP	G	TCGA-HC-A6AN-01A-11D-A30E-08		48713823	53817569	38	11497											
NDUFB10	4716	broad.mit.edu	37	chr16	2011248	2011248	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actgagtgcaaggaggaggaCatcatgtgcatgtatgaagc	13	8	14	6	0	1	2	1	2	0	0	1	5	1	5	0	3	3	3	0	3	3	1			TCGA-HC-A6AN-01A-11D-A30E-08	TCGA-HC-A6AN-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	046c8e49-c295-4b2f-ad1a-da6cb0958544	5318522e-d56a-4eb2-88ae-b76fcf183a78	g.chr16:2011248C>G	ENST00000268668.6	+	2	342	c.225C>G	c.(223-225)gaC>gaG	p.D75E	NDUFB10_ENST00000543683.2_Missense_Mutation_p.D75E|SNORA64_ENST00000384674.1_RNA|SNORA10_ENST00000384084.1_RNA|NDUFB10_ENST00000569148.1_Missense_Mutation_p.D75E	NM_004548.2	NP_004539.1	O96000	NDUBA_HUMAN	NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 10, 22kDa	75					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)			lung(1)|urinary_tract(1)	2						AGGAGGAGGACATCATGTGCA	0.532																																						ENST00000543683.2																			0				lung(1)|urinary_tract(1)	2						c.(223-225)gaC>gaG		NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 10, 22kDa	NADH(DB00157)						201	146	164					16																	2011248		2199	4300	6499	SO:0001583	missense	4716				mitochondrial electron transport, NADH to ubiquinone|transport	mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity|protein binding	g.chr16:2011248C>G	AF044954	CCDS10451.1	16p13.3	2011-07-04	2002-08-29		ENSG00000140990	ENSG00000140990		"Mitochondrial respiratory chain complex / Complex I"	7696	protein-coding gene	gene with protein product	"complex I PDSW subunit"	603843	"NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 10 (22kD, PDSW)"			9763677, 9878551	Standard	NM_004548		Approved	PDSW	uc002cni.2	O96000	OTTHUMG00000128709	ENST00000268668.6:c.225C>G	16.37:g.2011248C>G	ENSP00000268668:p.Asp75Glu					NDUFB10_ENST00000569148.1_Missense_Mutation_p.D75E|NDUFB10_ENST00000268668.6_Missense_Mutation_p.D75E	p.D75E			O96000	NDUBA_HUMAN			2	307	+			75					Q96II6	Missense_Mutation	SNP	ENST00000268668.6	37	c.225C>G	CCDS10451.1	.	.	.	.	.	.	.	.	.	.	C	14.01	2.407197	0.42715	.	.	ENSG00000140990	ENST00000268668;ENST00000543683	.	.	.	5.12	-9.62	0.00547	.	0.000000	0.85682	D	0.000000	T	0.81108	0.4754	M	0.87269	2.87	0.45791	D	0.99867	D;D	0.89917	1.0;0.999	D;D	0.91635	0.999;0.976	D	0.87363	0.2345	9	0.87932	D	0	-16.5956	22.302	0.99969	0.0:0.8736:0.0:0.1264	.	75;75	Q96II6;O96000	.;NDUBA_HUMAN	E	75	.	ENSP00000268668:D75E	D	+	3	2	NDUFB10	1951249	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.552000	0.06020	-2.089000	0.00860	-0.940000	0.02684	GAC		0.532	NDUFB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250614.2	NM_004548		37	98	0	0	0	1	0	37	98					G	2011248	C	G	2011248	3	3	244	1	0	0	0	0	1	0	0	0	10279	477	17	5	231	5	NDUFB10	16	2011248	Missense_Mutation	SNP	C	TCGA-HC-A6AN-01A-11D-A30E-08		2011248	88343505	39	11498											
CREBBP	1387	broad.mit.edu	37	chr16	3778738	3778738	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggccacgtacttggctgtgcGctgtttgatgaaagctgcca	7	11	13	10	2	0	2	0	2	0	0	0	2	0	2	2	2	4	5	2	2	2	3			TCGA-HC-A6AN-01A-11D-A30E-08	TCGA-HC-A6AN-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	046c8e49-c295-4b2f-ad1a-da6cb0958544	5318522e-d56a-4eb2-88ae-b76fcf183a78	g.chr16:3778738G>A	ENST00000262367.5	-	31	7119	c.6310C>T	c.(6310-6312)Cgc>Tgc	p.R2104C	CREBBP_ENST00000382070.3_Missense_Mutation_p.R2066C	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	2104					cellular lipid metabolic process (GO:0044255)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|embryonic digit morphogenesis (GO:0042733)|gene expression (GO:0010467)|germ-line stem cell maintenance (GO:0030718)|histone acetylation (GO:0016573)|homeostatic process (GO:0042592)|innate immune response (GO:0045087)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein complex assembly (GO:0006461)|regulation of smoothened signaling pathway (GO:0008589)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|response to hypoxia (GO:0001666)|rhythmic process (GO:0048511)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nuclear body (GO:0016604)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|histone acetyltransferase activity (GO:0004402)|MRF binding (GO:0043426)|p53 binding (GO:0002039)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		TTGGCTGTGCGCTGTTTGATG	0.622			"T, N, F, Mis, O"	"MLL, MORF, RUNXBP2"	"ALL, AML, DLBCL, B-NHL "		Rubinstein-Taybi syndrome																															ENST00000262367.5				Dom/Rec	yes		16	16p13.3	1387	"T, N, F, Mis, O"	CREB binding protein (CBP)	yes	Rubinstein-Taybi syndrome	L	"MLL, MORF, RUNXBP2"		"ALL, AML, DLBCL, B-NHL "		0				NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295						c.(6310-6312)Cgc>Tgc		CREB binding protein							107	119	115					16																	3778738		2197	4299	6496	SO:0001583	missense	1387				cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding	g.chr16:3778738G>A	U85962	CCDS10509.1, CCDS45399.1	16p13.3	2011-07-01	2008-08-01		ENSG00000005339	ENSG00000005339		"Chromatin-modifying enzymes / K-acetyltransferases"	2348	protein-coding gene	gene with protein product		600140	"Rubinstein-Taybi syndrome"	RSTS		8413673	Standard	NM_001079846		Approved	RTS, CBP, KAT3A	uc002cvv.3	Q92793	OTTHUMG00000129431	ENST00000262367.5:c.6310C>T	16.37:g.3778738G>A	ENSP00000262367:p.Arg2104Cys					CREBBP_ENST00000382070.3_Missense_Mutation_p.R2066C	p.R2104C	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)	31	7119	-		Ovarian(90;0.0266)	2104					D3DUC9|O00147|Q16376|Q4LE28	Missense_Mutation	SNP	ENST00000262367.5	37	c.6310C>T	CCDS10509.1	.	.	.	.	.	.	.	.	.	.	g	8.149	0.786905	0.16189	.	.	ENSG00000005339	ENST00000262367;ENST00000543883;ENST00000382070;ENST00000323508	D;D	0.88896	-2.44;-2.34	5.11	5.11	0.69529	Nuclear receptor coactivator, CREB-bp-like, interlocking (2);Nuclear receptor coactivator, interlocking (1);	0.074441	0.53938	D	0.000053	D	0.93344	0.7878	M	0.70595	2.14	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	D	0.93784	0.7086	10	0.87932	D	0	-14.4269	12.7605	0.57361	0.0:0.0:0.7233:0.2767	.	2134;2104	Q4LE28;Q92793	.;CBP_HUMAN	C	2104;2134;2066;639	ENSP00000262367:R2104C;ENSP00000371502:R2066C	ENSP00000262367:R2104C	R	-	1	0	CREBBP	3718739	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	3.874000	0.56101	2.387000	0.81309	0.655000	0.94253	CGC		0.622	CREBBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251591.2	NM_004380		7	398	0	0	0	1	0	7	398					A	3778738	G	A	3778738	3	1	244	1	0	0	0	0	1	0	0	0	3861	1087	38	1	1022	1	CREBBP	16	3778738	Missense_Mutation	SNP	G	TCGA-HC-A6AN-01A-11D-A30E-08	1767490	3778738	86576015	40	11499											
DNAH3	55567	broad.mit.edu	37	chr16	21078692	21078692	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gttggcttcttgaagcttctCtgccatccgtggctggtcgg	3	14	13	11	2	2	1	0	1	2	0	5	1	3	1	2	4	2	4	2	4	1	4			TCGA-HC-A6AN-01A-11D-A30E-08	TCGA-HC-A6AN-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	046c8e49-c295-4b2f-ad1a-da6cb0958544	5318522e-d56a-4eb2-88ae-b76fcf183a78	g.chr16:21078692C>T	ENST00000261383.3	-	24	3429	c.3430G>A	c.(3430-3432)Gag>Aag	p.E1144K	DNAH3_ENST00000415178.1_Missense_Mutation_p.E1144K	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	1144	Stem. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)	p.E1144K(2)		NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		TGAAGCTTCTCTGCCATCCGT	0.468																																						ENST00000261383.3																			2	Substitution - Missense(2)	p.E1144K(2)	large_intestine(2)	NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202						c.(3430-3432)Gag>Aag		dynein, axonemal, heavy chain 3							85	86	86					16																	21078692		2201	4300	6501	SO:0001583	missense	55567				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr16:21078692C>T	U83574	CCDS10594.1	16p12.2	2008-08-01	2006-09-04		ENSG00000158486	ENSG00000158486		"Axonemal dyneins"	2949	protein-coding gene	gene with protein product		603334	"dynein, axonemal, heavy polypeptide 3"			9256245, 9373155	Standard	NM_017539		Approved	Dnahc3b, DLP3, Hsadhc3, DKFZp434N074	uc010vbe.2	Q8TD57	OTTHUMG00000090677	ENST00000261383.3:c.3430G>A	16.37:g.21078692C>T	ENSP00000261383:p.Glu1144Lys					DNAH3_ENST00000415178.1_Missense_Mutation_p.E1144K	p.E1144K	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN		GBM - Glioblastoma multiforme(48;0.207)	24	3429	-			1144			Stem (By similarity).		O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Missense_Mutation	SNP	ENST00000261383.3	37	c.3430G>A	CCDS10594.1	.	.	.	.	.	.	.	.	.	.	C	18.96	3.734719	0.69189	.	.	ENSG00000158486	ENST00000261383;ENST00000415178	T;T	0.61627	0.09;0.09	5.64	5.64	0.86602	Dynein heavy chain, domain-2 (1);	0.134633	0.49916	D	0.000138	T	0.54464	0.1860	L	0.43152	1.355	0.58432	D	0.999995	B	0.22003	0.063	B	0.20955	0.032	T	0.49744	-0.8907	10	0.49607	T	0.09	.	19.7101	0.96094	0.0:1.0:0.0:0.0	.	1144	Q8TD57	DYH3_HUMAN	K	1144	ENSP00000261383:E1144K;ENSP00000394245:E1144K	ENSP00000261383:E1144K	E	-	1	0	DNAH3	20986193	1.000000	0.71417	0.998000	0.56505	0.875000	0.50365	5.803000	0.69129	2.655000	0.90218	0.637000	0.83480	GAG		0.468	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207361.1	NM_017539		4	99	0	0	0	1	0	4	99					T	21078692	C	T	21078692	3	4	244	1	0	0	0	0	1	0	0	0	4603	922	32	3	9075	3	DNAH3	16	21078692	Missense_Mutation	SNP	C	TCGA-HC-A6AN-01A-11D-A30E-08	17299954	21078692	69276061	41	11500											
UBFD1	56061	broad.mit.edu	37	chr16	23578315	23578315	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctctcaacttagagcggacTgagaaattgcccatgggctc	10	9	10	12	1	1	2	1	1	1	2	3	4	1	3	2	2	3	1	2	2	3	2			TCGA-HC-A6AN-01A-11D-A30E-08	TCGA-HC-A6AN-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	046c8e49-c295-4b2f-ad1a-da6cb0958544	5318522e-d56a-4eb2-88ae-b76fcf183a78	g.chr16:23578315T>C	ENST00000395878.3	+	6	1125	c.744T>C	c.(742-744)acT>acC	p.T248T	UBFD1_ENST00000219638.4_Silent_p.T472T|CTD-2196E14.6_ENST00000568262.2_RNA|UBFD1_ENST00000567212.1_Silent_p.T239T	NM_019116.2	NP_061989.2	O14562	UBFD1_HUMAN	ubiquitin family domain containing 1	248							poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)	7				GBM - Glioblastoma multiforme(48;0.0331)		TAGAGCGGACTGAGAAATTGC	0.498																																					Melanoma(22;290 1069 22358 48158)	ENST00000395878.3																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(3)	7						c.(742-744)acT>acC		ubiquitin family domain containing 1							121	119	120					16																	23578315		1897	4109	6006	SO:0001819	synonymous_variant	56061							g.chr16:23578315T>C	AK124139	CCDS10613.2	16p12.1	2008-11-05			ENSG00000103353	ENSG00000103353			30565	protein-coding gene	gene with protein product	"ubiquitin-binding protein homolog"					10493829	Standard	XM_006721064		Approved	FLJ42145, FLJ38870, UBPH	uc002dlv.3	O14562	OTTHUMG00000128855	ENST00000395878.3:c.744T>C	16.37:g.23578315T>C						UBFD1_ENST00000567212.1_Silent_p.T239T|UBFD1_ENST00000219638.4_Silent_p.T472T	p.T248T	NM_019116.2	NP_061989.2	O14562	UBFD1_HUMAN		GBM - Glioblastoma multiforme(48;0.0331)	6	1125	+			248					A8MW58|D3DWF2	Silent	SNP	ENST00000395878.3	37	c.744T>C	CCDS10613.2																																																																																				0.498	UBFD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250795.2	NM_019116		5	119	0	0	0	1	0	5	119					C	23578315	T	C	23578315	2	2	244	1	0	0	0	0	0	0	0	1	16881	1567	55	4		4	UBFD1	16	23578315	Silent	SNP	T	TCGA-HC-A6AN-01A-11D-A30E-08	2499623	23578315	66776438	42	11501											
NQO1	1728	broad.mit.edu	37	chr16	69752046	69752046	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctggaatatcacaaggtctgCggcttccagcttcttttgtt	7	15	9	10	1	3	0	1	0	2	0	4	1	4	1	1	3	2	3	1	3	3	6	rs541026990	byFrequency	TCGA-HC-A6AN-01A-11D-A30E-08	TCGA-HC-A6AN-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	046c8e49-c295-4b2f-ad1a-da6cb0958544	5318522e-d56a-4eb2-88ae-b76fcf183a78	g.chr16:69752046C>T	ENST00000320623.5	-	3	794	c.283G>A	c.(283-285)Gca>Aca	p.A95T	NQO1_ENST00000379047.3_Missense_Mutation_p.A95T|NQO1_ENST00000564043.1_Missense_Mutation_p.A74T|NQO1_ENST00000379046.2_Missense_Mutation_p.A95T|NQO1_ENST00000439109.2_Missense_Mutation_p.A95T|NQO1_ENST00000561500.1_Missense_Mutation_p.A95T	NM_000903.2	NP_000894.1	P15559	NQO1_HUMAN	NAD(P)H dehydrogenase, quinone 1	95					aging (GO:0007568)|cellular nitrogen compound metabolic process (GO:0034641)|negative regulation of catalytic activity (GO:0043086)|nitric oxide biosynthetic process (GO:0006809)|positive regulation of neuron apoptotic process (GO:0043525)|regulation of cellular amino acid metabolic process (GO:0006521)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to nutrient (GO:0007584)|response to toxic substance (GO:0009636)|small molecule metabolic process (GO:0044281)|synaptic transmission, cholinergic (GO:0007271)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|neuronal cell body (GO:0043025)	cytochrome-b5 reductase activity, acting on NAD(P)H (GO:0004128)|NAD(P)H dehydrogenase (quinone) activity (GO:0003955)|poly(A) RNA binding (GO:0044822)|superoxide dismutase activity (GO:0004784)			autonomic_ganglia(1)|large_intestine(2)|lung(5)|prostate(1)|stomach(1)	10					Carboplatin(DB00958)|Cisplatin(DB00515)|Dicoumarol(DB00266)|Doxorubicin(DB00997)|Flavin adenine dinucleotide(DB03147)|Menadione(DB00170)|Oxaliplatin(DB00526)|Vitamin E(DB00163)	ACAAGGTCTGCGGCTTCCAGC	0.488													C|||	3	0.000599042	0	0	5008	,	,		19199	0		0	False		,,,				2504	0.0031					ENST00000320623.5																			0				autonomic_ganglia(1)|large_intestine(2)|lung(5)|prostate(1)|stomach(1)	10						c.(283-285)Gca>Aca		NAD(P)H dehydrogenase, quinone 1	Dicumarol(DB00266)|Menadione(DB00170)						174	182	180					16																	69752046		2198	4300	6498	SO:0001583	missense	1728				nitric oxide biosynthetic process|regulation of cellular amino acid metabolic process|response to toxin|synaptic transmission, cholinergic|xenobiotic metabolic process	cytosol	coenzyme binding|cytochrome-b5 reductase activity|electron carrier activity|NAD(P)H dehydrogenase (quinone) activity	g.chr16:69752046C>T	M81600	CCDS10883.1, CCDS32471.1, CCDS32472.1, CCDS67067.1	16q12-q22	2012-10-02	2001-11-30	2001-12-07	ENSG00000181019	ENSG00000181019	1.6.5.2		2874	protein-coding gene	gene with protein product		125860	"diaphorase (NADH/NADPH) (cytochrome b-5 reductase)"	NMOR1, DIA4		2843525	Standard	NM_001286137		Approved	DHQU, QR1, DTD	uc002exp.3	P15559	OTTHUMG00000137575	ENST00000320623.5:c.283G>A	16.37:g.69752046C>T	ENSP00000319788:p.Ala95Thr					NQO1_ENST00000561500.1_Missense_Mutation_p.A95T|NQO1_ENST00000564043.1_Missense_Mutation_p.A74T|NQO1_ENST00000379046.2_Missense_Mutation_p.A95T|NQO1_ENST00000439109.2_Missense_Mutation_p.A95T|NQO1_ENST00000379047.3_Missense_Mutation_p.A95T	p.A95T	NM_000903.2	NP_000894.1	P15559	NQO1_HUMAN			3	794	-			95					B2R5Y9|B4DNM7|B7ZAD1|Q86UK1	Missense_Mutation	SNP	ENST00000320623.5	37	c.283G>A	CCDS10883.1	.	.	.	.	.	.	.	.	.	.	C	35	5.531448	0.96446	.	.	ENSG00000181019	ENST00000320623;ENST00000379047;ENST00000379046;ENST00000439109	T;T;T;T	0.18960	2.18;2.18;2.18;2.18	6.03	5.08	0.68730	Flavodoxin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.54367	0.1854	M	0.89715	3.055	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.997;0.992;0.996;0.999	T	0.64960	-0.6284	9	.	.	.	-7.291	15.2408	0.73468	0.0:0.9322:0.0:0.0678	.	95;95;95;95	B4DLR8;B4DNM7;B7ZAD1;P15559	.;.;.;NQO1_HUMAN	T	95	ENSP00000319788:A95T;ENSP00000368335:A95T;ENSP00000368334:A95T;ENSP00000398330:A95T	.	A	-	1	0	NQO1	68309547	1.000000	0.71417	0.989000	0.46669	0.973000	0.67179	5.380000	0.66202	1.562000	0.49601	0.655000	0.94253	GCA		0.488	NQO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268956.2			5	325	0	0	0	1	0	5	325					T	69752046	C	T	69752046	3	4	244	1	0	0	0	0	1	0	0	0	10611	768	27	1	557	1	NQO1	16	69752046	Missense_Mutation	SNP	C	TCGA-HC-A6AN-01A-11D-A30E-08	46173731	69752046	20602707	43	11502											
TEKT1	83659	broad.mit.edu	37	chr17	6733629	6733629	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agcgtctgctctgtggtactGgttcttgttagcaatgtgcc	5	15	12	9	1	3	0	0	0	3	0	3	0	3	0	1	2	5	5	1	2	3	4			TCGA-HC-A6AN-01A-11D-A30E-08	TCGA-HC-A6AN-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	046c8e49-c295-4b2f-ad1a-da6cb0958544	5318522e-d56a-4eb2-88ae-b76fcf183a78	g.chr17:6733629G>T	ENST00000338694.2	-	2	196	c.67C>A	c.(67-69)Cag>Aag	p.Q23K	TEKT1_ENST00000535086.1_5'UTR	NM_053285.1	NP_444515.1	Q969V4	TEKT1_HUMAN	tektin 1	23						cilium (GO:0005929)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)				NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)	20		Myeloproliferative disorder(207;0.0255)				CTGTGGTACTGGTTCTTGTTA	0.468																																						ENST00000338694.2																			0				NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)	20						c.(67-69)Cag>Aag		tektin 1							103	93	96					17																	6733629		2203	4300	6503	SO:0001583	missense	83659				microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule		g.chr17:6733629G>T		CCDS11083.1	17p13.2	2011-05-23			ENSG00000167858	ENSG00000167858			15534	protein-coding gene	gene with protein product		609002				11606253	Standard	NM_053285		Approved		uc002gdt.3	Q969V4	OTTHUMG00000102063	ENST00000338694.2:c.67C>A	17.37:g.6733629G>T	ENSP00000341346:p.Gln23Lys					TEKT1_ENST00000535086.1_5'UTR	p.Q23K	NM_053285.1	NP_444515.1	Q969V4	TEKT1_HUMAN			2	196	-		Myeloproliferative disorder(207;0.0255)	23					D3DTM7	Missense_Mutation	SNP	ENST00000338694.2	37	c.67C>A	CCDS11083.1	.	.	.	.	.	.	.	.	.	.	G	5.577	0.291314	0.10567	.	.	ENSG00000167858	ENST00000338694	T	0.02369	4.32	4.92	4.92	0.64577	.	0.458670	0.22635	N	0.057537	T	0.01835	0.0058	N	0.16656	0.425	0.80722	D	1	B	0.02656	0.0	B	0.09377	0.004	T	0.36890	-0.9729	10	0.02654	T	1	.	9.615	0.39685	0.0956:0.0:0.9044:0.0	.	23	Q969V4	TEKT1_HUMAN	K	23	ENSP00000341346:Q23K	ENSP00000341346:Q23K	Q	-	1	0	TEKT1	6674353	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.513000	0.53414	2.445000	0.82738	0.655000	0.94253	CAG		0.468	TEKT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219867.2	NM_053285		10	40	1	0	0.000442599	1	0.000458694	10	40					T	6733629	G	T	6733629	3	4	244	1	0	0	0	0	1	0	0	0	15749	1357	47	5	1217	5	TEKT1	17	6733629	Missense_Mutation	SNP	G	TCGA-HC-A6AN-01A-11D-A30E-08		6733629	74461581	44	11503											
DCC	1630	broad.mit.edu	37	chr18	50432638	50432638	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acattggaatttaccgatgcTcagctcgaaatccagccagc	12	9	8	12	2	1	0	1	0	0	0	3	3	2	1	3	1	5	2	3	1	3	3			TCGA-HC-A6AN-01A-11D-A30E-08	TCGA-HC-A6AN-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	046c8e49-c295-4b2f-ad1a-da6cb0958544	5318522e-d56a-4eb2-88ae-b76fcf183a78	g.chr18:50432638T>A	ENST00000442544.2	+	3	1253	c.637T>A	c.(637-639)Tca>Aca	p.S213T	DCC_ENST00000412726.1_Missense_Mutation_p.S61T	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	DCC netrin 1 receptor	213	Ig-like C2-type 2.				anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|axonogenesis (GO:0007409)|dorsal/ventral axon guidance (GO:0033563)|negative regulation of collateral sprouting (GO:0048671)|negative regulation of dendrite development (GO:2000171)|negative regulation of neuron projection development (GO:0010977)|neuron migration (GO:0001764)|positive regulation of apoptotic process (GO:0043065)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron projection development (GO:0010976)|regulation of apoptotic process (GO:0042981)|response to amphetamine (GO:0001975)|spinal cord ventral commissure morphogenesis (GO:0021965)	axon (GO:0030424)|cytosol (GO:0005829)|growth cone membrane (GO:0032584)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	netrin receptor activity (GO:0005042)|transcription coactivator activity (GO:0003713)|transmembrane signaling receptor activity (GO:0004888)			NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		TTACCGATGCTCAGCTCGAAA	0.493																																						ENST00000442544.2																			0				NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148						c.(637-639)Tca>Aca		deleted in colorectal carcinoma							91	90	90					18																	50432638		2203	4300	6503	SO:0001583	missense	1630				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane		g.chr18:50432638T>A	X76132	CCDS11952.1	18q21.1	2014-06-20	2014-06-20		ENSG00000187323	ENSG00000187323		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	2701	protein-coding gene	gene with protein product	"immunoglobulin superfamily, DCC subclass, member 1"	120470	"deleted in colorectal carcinoma"			2294591, 24400119	Standard	NM_005215		Approved	IGDCC1, NTN1R1	uc002lfe.2	P43146	OTTHUMG00000132698	ENST00000442544.2:c.637T>A	18.37:g.50432638T>A	ENSP00000389140:p.Ser213Thr					DCC_ENST00000412726.1_Missense_Mutation_p.S61T	p.S213T	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)	3	1253	+		all_cancers(7;0.11)|all_epithelial(6;0.00126)	213			Ig-like C2-type 2.			Missense_Mutation	SNP	ENST00000442544.2	37	c.637T>A	CCDS11952.1	.	.	.	.	.	.	.	.	.	.	T	14.01	2.406515	0.42715	.	.	ENSG00000187323	ENST00000442544;ENST00000304775;ENST00000412726	T;T	0.65549	-0.16;-0.16	5.71	-1.68	0.08212	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.321794	0.23300	N	0.049689	T	0.23688	0.0573	N	0.03050	-0.425	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.08055	0.002;0.003	T	0.06445	-1.0826	10	0.10111	T	0.7	.	1.1508	0.01785	0.4096:0.104:0.139:0.3474	.	61;213	E7EQM8;P43146	.;DCC_HUMAN	T	213;146;61	ENSP00000389140:S213T;ENSP00000397322:S61T	ENSP00000304146:S146T	S	+	1	0	DCC	48686636	0.992000	0.36948	0.959000	0.39883	0.954000	0.61252	0.300000	0.19156	-0.203000	0.10251	0.533000	0.62120	TCA		0.493	DCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255996.3	NM_005215		38	61	0	0	0	1	0	38	61					A	50432638	T	A	50432638	3	1	244	1	0	0	0	0	1	0	0	0	4282	1551	54	5	647	5	DCC	18	50432638	Missense_Mutation	SNP	T	TCGA-HC-A6AN-01A-11D-A30E-08		50432638	27644610	45	11504											
CBS	875	broad.mit.edu	37	chr21	44476945	44476945	+	Frame_Shift_Del	DEL	T	T	-																															cgtgcaccaccagggcgaagTggtccatctccaggatgtgc																										TCGA-HC-A6AN-01A-11D-A30E-08	TCGA-HC-A6AN-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	046c8e49-c295-4b2f-ad1a-da6cb0958544	5318522e-d56a-4eb2-88ae-b76fcf183a78	g.chr21:44476945delT	ENST00000398165.3	-	16	1779	c.1520delA	c.(1519-1521)cacfs	p.H507fs	CBS_ENST00000398168.1_Frame_Shift_Del_p.H507fs|CBS_ENST00000544202.1_Frame_Shift_Del_p.H419fs|CBS_ENST00000352178.5_Frame_Shift_Del_p.H507fs|CBS_ENST00000359624.3_Frame_Shift_Del_p.H507fs|CBS_ENST00000398158.1_Frame_Shift_Del_p.H507fs	NM_000071.2	NP_000062.1	P35520	CBS_HUMAN	cystathionine-beta-synthase	507					cellular nitrogen compound metabolic process (GO:0034641)|cysteine biosynthetic process from serine (GO:0006535)|cysteine biosynthetic process via cystathionine (GO:0019343)|homocysteine catabolic process (GO:0043418)|homocysteine metabolic process (GO:0050667)|hydrogen sulfide biosynthetic process (GO:0070814)|L-cysteine catabolic process (GO:0019448)|L-serine catabolic process (GO:0006565)|L-serine metabolic process (GO:0006563)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)|transsulfuration (GO:0019346)	cytosol (GO:0005829)|nucleus (GO:0005634)	adenyl nucleotide binding (GO:0030554)|cystathionine beta-synthase activity (GO:0004122)|enzyme binding (GO:0019899)|heme binding (GO:0020037)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|modified amino acid binding (GO:0072341)|protein homodimerization activity (GO:0042803)|pyridoxal phosphate binding (GO:0030170)|ubiquitin protein ligase binding (GO:0031625)			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(8)	17					L-Cysteine(DB00151)|L-Serine(DB00133)|S-Adenosylmethionine(DB00118)	CAGGGCGAAGTGGTCCATCTC	0.652																																						ENST00000398165.3																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(8)	17						c.(1519-1521)ccfs		cystathionine-beta-synthase	L-Cysteine(DB00151)|L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)|Pyridoxine(DB00165)|S-Adenosylmethionine(DB00118)						84	59	67					21																	44476945		2152	4188	6340	SO:0001589	frameshift_variant	875				cysteine biosynthetic process from serine|cysteine biosynthetic process via cystathionine|homocysteine catabolic process|hydrogen sulfide biosynthetic process|L-cysteine catabolic process|L-serine catabolic process	cytosol|nucleolus	cystathionine beta-synthase activity|heme binding|protein homodimerization activity|pyridoxal phosphate binding|ubiquitin protein ligase binding	g.chr21:44476945delT	L14577	CCDS13693.1	21q22.3	2014-09-17			ENSG00000160200	ENSG00000160200	4.2.1.22		1550	protein-coding gene	gene with protein product		613381				9790750	Standard	NM_000071		Approved	HIP4	uc002zcv.2	P35520	OTTHUMG00000086834	ENST00000398165.3:c.1520delA	21.37:g.44476945delT	ENSP00000381231:p.His507fs					CBS_ENST00000544202.1_Frame_Shift_Del_p.H419fs|CBS_ENST00000398168.1_Frame_Shift_Del_p.H507fs|CBS_ENST00000398158.1_Frame_Shift_Del_p.H507fs|CBS_ENST00000359624.3_Frame_Shift_Del_p.H507fs|CBS_ENST00000352178.5_Frame_Shift_Del_p.H507fs	p.H507fs	NM_000071.2	NP_000062.1	P35520	CBS_HUMAN			16	1779	-			507					B2R993|D3DSK4|Q99425|Q9BWC5	Frame_Shift_Del	DEL	ENST00000398165.3	37	c.1520delA	CCDS13693.1																																																																																				0.652	CBS-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195525.1	NM_000071		2	4						2	4	---	---	---	---	-	44476945	T	-	44476945	7	5	244	1	0	1	0	1	0	0	0	0	2711	1696	59	0	143	0	CBS	21	44476945	Frame_Shift_Del	DEL	T	TCGA-HC-A6AN-01A-11D-A30E-08		44476945	3652950	46	11505											
KIAA0562	9731	broad.mit.edu	37	chr1	3756209	3756209	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tggcttgttttagtttcttgGcataatcatagcgttccttt	6	20	8	7	1	2	0	1	0	1	0	3	0	3	0	1	2	1	5	1	2	3	9			TCGA-HC-A6AO-01A-11D-A30E-08	TCGA-HC-A6AO-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78928ca5-e8a3-4c7c-a8ca-a0e5801870f9	300a9b2e-8abd-4a19-a4fc-b5e4b266e1df	g.chr1:3756209G>A	ENST00000378230.3	-	7	1022	c.698C>T	c.(697-699)gCc>gTc	p.A233V	CEP104_ENST00000460038.1_5'Flank	NM_014704.3	NP_055519.1	O60308	CE104_HUMAN	centrosomal protein 104kDa	233						centriole (GO:0005814)	glutamate binding (GO:0016595)|glycine binding (GO:0016594)|thienylcyclohexylpiperidine binding (GO:0016596)			breast(2)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(14)|lung(8)|prostate(1)|skin(3)	39						TAGTTTCTTGGCATAATCATA	0.353																																						ENST00000378230.3																			0				breast(2)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(14)|lung(8)|prostate(1)|skin(3)	39						c.(697-699)gCc>gTc		centrosomal protein 104kDa							185	178	180					1																	3756209		2203	4300	6503	SO:0001583	missense	9731					centriole	binding	g.chr1:3756209G>A	AB011134	CCDS30571.1	1p36.32	2014-02-20	2011-05-06	2011-05-06	ENSG00000116198	ENSG00000116198			24866	protein-coding gene	gene with protein product	"glycine, glutamate, thienylcyclohexylpiperidine binding protein"		"KIAA0562"	KIAA0562		7488117, 21399614	Standard	NM_014704		Approved	GlyBP, RP1-286D6.4	uc001aky.2	O60308	OTTHUMG00000003507	ENST00000378230.3:c.698C>T	1.37:g.3756209G>A	ENSP00000367476:p.Ala233Val						p.A233V	NM_014704.3	NP_055519.1	O60308	CE104_HUMAN			7	1022	-			233					Q5JSQ3|Q5SR24|Q5SR25|Q6PKF5|Q86W32|Q86X14	Missense_Mutation	SNP	ENST00000378230.3	37	c.698C>T	CCDS30571.1	.	.	.	.	.	.	.	.	.	.	G	32	5.158519	0.94686	.	.	ENSG00000116198	ENST00000378230;ENST00000428079	T	0.61274	0.12	4.97	4.97	0.65823	.	0.000000	0.85682	D	0.000000	T	0.80844	0.4701	M	0.89968	3.075	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.997	D	0.85511	0.1197	10	0.87932	D	0	.	17.204	0.86913	0.0:0.0:1.0:0.0	.	233;233	O60308-3;O60308	.;CE104_HUMAN	V	233;175	ENSP00000367476:A233V	ENSP00000367476:A233V	A	-	2	0	CEP104	3746069	1.000000	0.71417	0.999000	0.59377	0.978000	0.69477	9.259000	0.95561	2.298000	0.77334	0.491000	0.48974	GCC		0.353	CEP104-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009747.3	NM_014704		34	64	0	0	0	1	0	34	64					A	3756209	G	A	3756209	3	1	245	1	0	0	0	0	1	0	0	0	8184	1203	42	3	2143	3	KIAA0562	1	3756209	Missense_Mutation	SNP	G	TCGA-HC-A6AO-01A-11D-A30E-08		3756209	245494412	1	11506											
H6PD	9563	broad.mit.edu	37	chr1	9305364	9305364	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaggccctgaacaaggacaTcgaggcacagctccagcacg	12	4	11	14	2	1	1	1	1	0	0	3	3	2	2	2	3	3	3	2	3	2	0			TCGA-HC-A6AO-01A-11D-A30E-08	TCGA-HC-A6AO-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78928ca5-e8a3-4c7c-a8ca-a0e5801870f9	300a9b2e-8abd-4a19-a4fc-b5e4b266e1df	g.chr1:9305364T>G	ENST00000377403.2	+	2	673	c.371T>G	c.(370-372)aTc>aGc	p.I124S	H6PD_ENST00000602477.1_Missense_Mutation_p.I135S	NM_001282587.1|NM_004285.3	NP_001269516.1|NP_004276.2	O95479	G6PE_HUMAN	hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase)	124	Glucose 1-dehydrogenase.				pentose-phosphate shunt (GO:0006098)|response to alcohol (GO:0097305)	endoplasmic reticulum (GO:0005783)|mitochondrion (GO:0005739)	6-phosphogluconolactonase activity (GO:0017057)|carbohydrate binding (GO:0030246)|glucose 1-dehydrogenase [NAD(P)] activity (GO:0047936)|glucose-6-phosphate dehydrogenase activity (GO:0004345)|NADP binding (GO:0050661)			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23	all_lung(157;0.23)	all_epithelial(116;1.28e-19)|all_lung(118;5.22e-06)|Lung NSC(185;1.98e-05)|Renal(390;0.000147)|Breast(348;0.00109)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.88e-07)|COAD - Colon adenocarcinoma(227;7.47e-05)|Kidney(185;0.000244)|KIRC - Kidney renal clear cell carcinoma(229;0.000905)|STAD - Stomach adenocarcinoma(132;0.00176)|BRCA - Breast invasive adenocarcinoma(304;0.00183)|READ - Rectum adenocarcinoma(331;0.0419)		AACAAGGACATCGAGGCACAG	0.587																																						ENST00000377403.2																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23						c.(370-372)aTc>aGc		hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase)	NADH(DB00157)						77	77	77					1																	9305364		2203	4300	6503	SO:0001583	missense	9563					endoplasmic reticulum lumen	6-phosphogluconolactonase activity|glucose 1-dehydrogenase|glucose-6-phosphate dehydrogenase activity|NADP binding	g.chr1:9305364T>G	AJ012590	CCDS101.1, CCDS72697.1	1p36	2008-02-05	2003-10-10		ENSG00000049239	ENSG00000049239	1.1.1.47		4795	protein-coding gene	gene with protein product		138090	"glucose dehyrogenase"	GDH		10349511	Standard	NM_001282587		Approved		uc001apt.3	O95479	OTTHUMG00000001768	ENST00000377403.2:c.371T>G	1.37:g.9305364T>G	ENSP00000366620:p.Ile124Ser					H6PD_ENST00000602477.1_Missense_Mutation_p.I135S	p.I124S	NM_004285.3	NP_004276.2	O95479	G6PE_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.88e-07)|COAD - Colon adenocarcinoma(227;7.47e-05)|Kidney(185;0.000244)|KIRC - Kidney renal clear cell carcinoma(229;0.000905)|STAD - Stomach adenocarcinoma(132;0.00176)|BRCA - Breast invasive adenocarcinoma(304;0.00183)|READ - Rectum adenocarcinoma(331;0.0419)	2	673	+	all_lung(157;0.23)	all_epithelial(116;1.28e-19)|all_lung(118;5.22e-06)|Lung NSC(185;1.98e-05)|Renal(390;0.000147)|Breast(348;0.00109)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)	124			Glucose 1-dehydrogenase.		Q4TT33|Q66I35|Q68DT3	Missense_Mutation	SNP	ENST00000377403.2	37	c.371T>G	CCDS101.1	.	.	.	.	.	.	.	.	.	.	T	20.3	3.968625	0.74131	.	.	ENSG00000049239	ENST00000377403	D	0.98381	-4.9	5.31	5.31	0.75309	NAD(P)-binding domain (1);Glucose-6-phosphate dehydrogenase, NAD-binding (1);	0.053759	0.64402	D	0.000001	D	0.98833	0.9606	M	0.79693	2.465	0.58432	D	0.999998	D	0.89917	1.0	D	0.85130	0.997	D	0.99835	1.1057	10	0.87932	D	0	-12.5237	14.7401	0.69448	0.0:0.0:0.0:1.0	.	124	O95479	G6PE_HUMAN	S	124	ENSP00000366620:I124S	ENSP00000366620:I124S	I	+	2	0	H6PD	9227951	1.000000	0.71417	0.930000	0.37139	0.647000	0.38526	7.571000	0.82399	2.134000	0.65973	0.482000	0.46254	ATC		0.587	H6PD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004928.2	NM_004285		4	112	0	0	0	1	0	4	112					G	9305364	T	G	9305364	3	3	245	1	0	0	0	0	1	0	0	0	6936	1435	50	5	373	5	H6PD	1	9305364	Missense_Mutation	SNP	T	TCGA-HC-A6AO-01A-11D-A30E-08	5549155	9305364	239945257	2	11507											
TINAGL1	64129	broad.mit.edu	37	chr1	32050623	32050623	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ctcgatggtgcctggtggttCctgcgtcgccgagggtatgc	3	11	16	11	4	0	0	0	0	0	0	3	2	1	0	3	4	3	2	3	4	1	2			TCGA-HC-A6AO-01A-11D-A30E-08	TCGA-HC-A6AO-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78928ca5-e8a3-4c7c-a8ca-a0e5801870f9	300a9b2e-8abd-4a19-a4fc-b5e4b266e1df	g.chr1:32050623C>T	ENST00000271064.7	+	7	919	c.843C>T	c.(841-843)ttC>ttT	p.F281F	TINAGL1_ENST00000457433.2_Silent_p.F250F|TINAGL1_ENST00000537531.1_3'UTR|TINAGL1_ENST00000481165.1_3'UTR	NM_001204415.1|NM_022164.2	NP_001191344.1|NP_071447.1	Q9GZM7	TINAL_HUMAN	tubulointerstitial nephritis antigen-like 1	281					endosomal transport (GO:0016197)|immune response (GO:0006955)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	cysteine-type peptidase activity (GO:0008234)|extracellular matrix structural constituent (GO:0005201)|polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)			breast(2)|central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(4)|prostate(1)|skin(3)|urinary_tract(1)	18		Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		STAD - Stomach adenocarcinoma(196;0.0526)|READ - Rectum adenocarcinoma(331;0.145)		CCTGGTGGTTCCTGCGTCGCC	0.637																																						ENST00000271064.7																			0				breast(2)|central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(4)|prostate(1)|skin(3)|urinary_tract(1)	18						c.(841-843)ttC>ttT		tubulointerstitial nephritis antigen-like 1							76	77	76					1																	32050623		2203	4300	6503	SO:0001819	synonymous_variant	64129				endosome transport|immune response|proteolysis	extracellular region	cysteine-type endopeptidase activity|extracellular matrix structural constituent|polysaccharide binding|scavenger receptor activity	g.chr1:32050623C>T	AB050716	CCDS343.1, CCDS55586.1, CCDS72745.1	1p34.3	2014-04-22	2005-08-18	2005-08-18	ENSG00000142910	ENSG00000142910			19168	protein-coding gene	gene with protein product			"lipocalin 7", "TINAG-like 1"	LCN7		11170462	Standard	NM_022164		Approved	P3ECSL, LIECG3, ARG1, TINAGRP	uc001bta.3	Q9GZM7	OTTHUMG00000003884	ENST00000271064.7:c.843C>T	1.37:g.32050623C>T						TINAGL1_ENST00000457433.2_Silent_p.F250F|TINAGL1_ENST00000481165.1_3'UTR|TINAGL1_ENST00000537531.1_3'UTR	p.F281F	NM_001204415.1|NM_022164.2	NP_001191344.1|NP_071447.1	Q9GZM7	TINAL_HUMAN		STAD - Stomach adenocarcinoma(196;0.0526)|READ - Rectum adenocarcinoma(331;0.145)	7	919	+		Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)	281					A8K9Q5|B4DPK6|D3DPN8|Q8TEJ9|Q8WZ23|Q96GZ4|Q96JW3	Silent	SNP	ENST00000271064.7	37	c.843C>T	CCDS343.1																																																																																				0.637	TINAGL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011072.1	NM_022164		20	73	0	0	0	1	0	20	73					T	32050623	C	T	32050623	2	4	245	1	0	0	0	0	0	0	0	1	15919	854	30	3		3	TINAGL1	1	32050623	Silent	SNP	C	TCGA-HC-A6AO-01A-11D-A30E-08	22745259	32050623	217199998	3	11508											
COL11A1	1301	broad.mit.edu	37	chr1	103488378	103488378	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gcttgttggtttatcttcatAttctttatattcataaaaat	11	21	4	5	0	4	0	2	0	2	0	4	0	4	0	0	1	0	3	0	1	7	12			TCGA-HC-A6AO-01A-11D-A30E-08	TCGA-HC-A6AO-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78928ca5-e8a3-4c7c-a8ca-a0e5801870f9	300a9b2e-8abd-4a19-a4fc-b5e4b266e1df	g.chr1:103488378A>G	ENST00000370096.3	-	8	1477	c.1165T>C	c.(1165-1167)Tat>Cat	p.Y389H	COL11A1_ENST00000512756.1_Intron|COL11A1_ENST00000353414.4_Missense_Mutation_p.Y350H|COL11A1_ENST00000358392.2_Missense_Mutation_p.Y401H	NM_001854.3	NP_001845.3	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	389	Nonhelical region.				cartilage condensation (GO:0001502)|chondrocyte development (GO:0002063)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|embryonic skeletal system morphogenesis (GO:0048704)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|proteoglycan metabolic process (GO:0006029)|sensory perception of sound (GO:0007605)|tendon development (GO:0035989)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visual perception (GO:0007601)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		TTATCTTCATATTCTTTATAT	0.363																																						ENST00000358392.2																			0				NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258						c.(1201-1203)Tat>Cat		collagen, type XI, alpha 1							76	77	76					1																	103488378		2203	4299	6502	SO:0001583	missense	1301				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging	g.chr1:103488378A>G	J04177	CCDS778.1, CCDS780.1, CCDS780.2, CCDS53348.1	1p21	2013-01-16			ENSG00000060718	ENSG00000060718		"Collagens"	2186	protein-coding gene	gene with protein product	"collagen XI, alpha-1 polypeptide"	120280		COLL6		3182841	Standard	NM_080630		Approved	STL2, CO11A1	uc001dul.3	P12107	OTTHUMG00000010872	ENST00000370096.3:c.1165T>C	1.37:g.103488378A>G	ENSP00000359114:p.Tyr389His					COL11A1_ENST00000512756.1_Intron|COL11A1_ENST00000353414.4_Missense_Mutation_p.Y350H|COL11A1_ENST00000370096.3_Missense_Mutation_p.Y389H	p.Y401H	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)	8	1518	-		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)	389			Nonhelical region.		B1ASK7|D3DT73|E9PCU0|Q14034|Q149N0|Q9UIT4|Q9UIT5|Q9UIT6	Missense_Mutation	SNP	ENST00000370096.3	37	c.1201T>C	CCDS778.1	.	.	.	.	.	.	.	.	.	.	A	8.929	0.963078	0.18583	.	.	ENSG00000060718	ENST00000370096;ENST00000358392;ENST00000353414;ENST00000427239	D;T;D;T	0.88586	-2.4;-0.52;-2.37;-0.52	5.2	5.2	0.72013	.	0.000000	0.85682	D	0.000000	D	0.86049	0.5840	M	0.83012	2.62	0.52501	D	0.999952	P;P;B	0.35656	0.514;0.514;0.38	B;B;B	0.41236	0.351;0.351;0.191	D	0.85147	0.0984	10	0.15952	T	0.53	.	13.641	0.62251	1.0:0.0:0.0:0.0	.	350;401;389	P12107-3;P12107-2;P12107	.;.;COBA1_HUMAN	H	389;401;350;401	ENSP00000359114:Y389H;ENSP00000351163:Y401H;ENSP00000302551:Y350H;ENSP00000408640:Y401H	ENSP00000302551:Y350H	Y	-	1	0	COL11A1	103260966	1.000000	0.71417	1.000000	0.80357	0.216000	0.24613	6.241000	0.72369	1.951000	0.56629	0.523000	0.50628	TAT		0.363	COL11A1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000029997.1	NM_080630		5	65	0	0	0	1	0	5	65					G	103488378	A	G	103488378	3	3	245	1	0	0	0	0	1	0	0	0	3667	449	16	4	4495	4	COL11A1	1	103488378	Missense_Mutation	SNP	A	TCGA-HC-A6AO-01A-11D-A30E-08	71437755	103488378	145762243	4	11509											
GPATCH4	54865	broad.mit.edu	37	chr1	156565530	156565530	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttggggggcttgctctctgaCtgcagttgaggggccccagg	4	10	17	10	0	1	2	0	2	1	0	2	2	1	2	2	6	2	4	2	6	0	3			TCGA-HC-A6AO-01A-11D-A30E-08	TCGA-HC-A6AO-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78928ca5-e8a3-4c7c-a8ca-a0e5801870f9	300a9b2e-8abd-4a19-a4fc-b5e4b266e1df	g.chr1:156565530C>G	ENST00000438976.2	-	8	633	c.603G>C	c.(601-603)caG>caC	p.Q201H	GPATCH4_ENST00000368232.4_Missense_Mutation_p.Q196H|GPATCH4_ENST00000497287.1_5'UTR			Q5T3I0	GPTC4_HUMAN	G patch domain containing 4	196							poly(A) RNA binding (GO:0044822)			autonomic_ganglia(1)|breast(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(2)|skin(3)|stomach(1)	17	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					TGCTCTCTGACTGCAGTTGAG	0.537																																						ENST00000368232.4																			0				autonomic_ganglia(1)|breast(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(2)|skin(3)|stomach(1)	17						c.(586-588)caG>caC		G patch domain containing 4							48	53	51					1																	156565530		2201	4299	6500	SO:0001583	missense	54865					intracellular	nucleic acid binding	g.chr1:156565530C>G	BC056904	CCDS1146.1, CCDS44245.1	1q22	2013-01-28		2006-12-13	ENSG00000160818	ENSG00000160818		"G patch domain containing"	25982	protein-coding gene	gene with protein product				GPATC4		12477932	Standard	NM_015590		Approved	FLJ20249, DKFZP434F1735	uc001fpl.3	Q5T3I0	OTTHUMG00000033203	ENST00000438976.2:c.603G>C	1.37:g.156565530C>G	ENSP00000396441:p.Gln201His					GPATCH4_ENST00000438976.2_Missense_Mutation_p.Q201H|GPATCH4_ENST00000497287.1_5'UTR	p.Q196H	NM_015590.3|NM_182679.2	NP_056405.2|NP_872620.1	Q5T3I0	GPTC4_HUMAN			8	720	-	all_hematologic(923;0.088)|Hepatocellular(266;0.158)		196					Q5T3I1|Q6ZUE7|Q8IWG8|Q9NXH4	Missense_Mutation	SNP	ENST00000438976.2	37	c.588G>C	CCDS44245.1	.	.	.	.	.	.	.	.	.	.	C	11.94	1.789505	0.31685	.	.	ENSG00000160818	ENST00000368232;ENST00000368229;ENST00000438976;ENST00000415314	T;T;T	0.44482	0.92;0.92;0.92	5.69	1.21	0.21127	.	0.646775	0.15632	N	0.252351	T	0.19927	0.0479	N	0.17082	0.46	0.09310	N	1	D;D	0.69078	0.997;0.997	P;P	0.58577	0.841;0.841	T	0.04053	-1.0981	10	0.41790	T	0.15	-25.5605	5.6613	0.17670	0.0:0.5167:0.139:0.3443	.	201;196	E9PAV9;Q5T3I0	.;GPTC4_HUMAN	H	196;196;201;167	ENSP00000357215:Q196H;ENSP00000396441:Q201H;ENSP00000412620:Q167H	ENSP00000357212:Q196H	Q	-	3	2	GPATCH4	154832154	0.000000	0.05858	0.017000	0.16124	0.469000	0.32828	0.586000	0.23894	0.354000	0.24105	-0.136000	0.14681	CAG		0.537	GPATCH4-015	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386947.1	NM_017725		29	47	0	0	0	1	0	29	47					G	156565530	C	G	156565530	3	3	245	1	0	0	0	0	1	0	0	0	6593	564	20	5	528	5	GPATCH4	1	156565530	Missense_Mutation	SNP	C	TCGA-HC-A6AO-01A-11D-A30E-08	53077152	156565530	92685091	5	11510											
MFSD2B	388931	broad.mit.edu	37	chr2	24247038	24247038	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctcaaagtcctcattggcGccgtgcccacctgcatgatc	7	9	8	17	2	2	1	2	1	0	0	4	1	3	1	5	1	2	1	5	1	1	1			TCGA-HC-A6AO-01A-11D-A30E-08	TCGA-HC-A6AO-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78928ca5-e8a3-4c7c-a8ca-a0e5801870f9	300a9b2e-8abd-4a19-a4fc-b5e4b266e1df	g.chr2:24247038G>A	ENST00000406420.3	+	13	1403	c.1387G>A	c.(1387-1389)Gcc>Acc	p.A463T	MFSD2B_ENST00000338315.4_Missense_Mutation_p.A463T	NM_001080473.1	NP_001073942.1	A6NFX1	MFS2B_HUMAN	major facilitator superfamily domain containing 2B	463					transport (GO:0006810)	integral component of membrane (GO:0016021)		p.A463T(1)		cervix(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	10						CCTCATTGGCGCCGTGCCCAC	0.607																																						ENST00000338315.4																			1	Substitution - Missense(1)	p.A463T(1)	large_intestine(1)	cervix(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	10						c.(1387-1389)Gcc>Acc		major facilitator superfamily domain containing 2B							62	72	69					2																	24247038		2109	4231	6340	SO:0001583	missense	388931				transport	integral to membrane		g.chr2:24247038G>A		CCDS46228.1	2p23.3	2010-05-11			ENSG00000205639	ENSG00000205639			37207	protein-coding gene	gene with protein product						18694395	Standard	NM_001080473		Approved		uc002reo.2	A6NFX1	OTTHUMG00000090819	ENST00000406420.3:c.1387G>A	2.37:g.24247038G>A	ENSP00000385527:p.Ala463Thr					MFSD2B_ENST00000406420.3_Missense_Mutation_p.A463T	p.A463T			A6NFX1	MFS2B_HUMAN			13	1387	+			463					B5MC32	Missense_Mutation	SNP	ENST00000406420.3	37	c.1387G>A	CCDS46228.1	.	.	.	.	.	.	.	.	.	.	G	16.12	3.032328	0.54790	.	.	ENSG00000205639	ENST00000406420;ENST00000338315	D;D	0.88818	-2.43;-2.43	4.93	4.93	0.64822	Major facilitator superfamily domain, general substrate transporter (1);	0.068242	0.56097	U	0.000025	D	0.91570	0.7337	M	0.71581	2.175	0.32785	N	0.501925	D	0.56746	0.977	P	0.52514	0.701	D	0.93483	0.6829	10	0.45353	T	0.12	-12.6105	17.1616	0.86805	0.0:0.0:1.0:0.0	.	463	A6NFX1	MFS2B_HUMAN	T	463	ENSP00000385527:A463T;ENSP00000342501:A463T	ENSP00000342501:A463T	A	+	1	0	MFSD2B	24100542	0.992000	0.36948	0.487000	0.27428	0.752000	0.42762	3.595000	0.54016	2.497000	0.84241	0.456000	0.33151	GCC		0.607	MFSD2B-001	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000324307.1	NM_001080473		7	32	0	0	0	1	0	7	32					A	24247038	G	A	24247038	3	1	245	1	0	0	0	0	1	0	0	0	9531	1087	38	1	1437	1	MFSD2B	2	24247038	Missense_Mutation	SNP	G	TCGA-HC-A6AO-01A-11D-A30E-08		24247038	218952335	6	11511											
PLEKHH2	130271	broad.mit.edu	37	chr2	43937680	43937680	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgaacttagtgcatcctgtaGtattttaagaggagataaca	14	13	9	5	0	0	3	0	1	0	2	1	4	1	3	1	1	3	3	1	1	6	6			TCGA-HC-A6AO-01A-11D-A30E-08	TCGA-HC-A6AO-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78928ca5-e8a3-4c7c-a8ca-a0e5801870f9	300a9b2e-8abd-4a19-a4fc-b5e4b266e1df	g.chr2:43937680G>A	ENST00000282406.4	+	14	2377	c.2267G>A	c.(2266-2268)aGt>aAt	p.S756N		NM_172069.3	NP_742066.2	Q8IVE3	PKHH2_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 2	756	PH 1. {ECO:0000255|PROSITE- ProRule:PRU00145}.				negative regulation of actin filament depolymerization (GO:0030835)	cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)	actin binding (GO:0003779)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(24)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	56		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				GCATCCTGTAGTATTTTAAGA	0.299																																						ENST00000282406.4																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(24)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						c.(2266-2268)aGt>aAt		pleckstrin homology domain containing, family H (with MyTH4 domain) member 2							76	78	77					2																	43937680		2201	4300	6501	SO:0001583	missense	130271					cytoplasm|cytoskeleton|integral to membrane	binding	g.chr2:43937680G>A	AB095948	CCDS1812.1	2p22	2013-01-10			ENSG00000152527	ENSG00000152527		"Pleckstrin homology (PH) domain containing"	30506	protein-coding gene	gene with protein product		612723					Standard	NM_172069		Approved	KIAA2028, PLEKHH1L	uc010yny.2	Q8IVE3	OTTHUMG00000128657	ENST00000282406.4:c.2267G>A	2.37:g.43937680G>A	ENSP00000282406:p.Ser756Asn						p.S756N	NM_172069.3	NP_742066.2	Q8IVE3	PKHH2_HUMAN			14	2377	+		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	756			PH 1.		Q5JPJ6|Q6P4Q1|Q8N3Q3	Missense_Mutation	SNP	ENST00000282406.4	37	c.2267G>A	CCDS1812.1	.	.	.	.	.	.	.	.	.	.	G	11.85	1.761841	0.31228	.	.	ENSG00000152527	ENST00000282406	T	0.76316	-1.01	4.97	1.65	0.23941	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.418902	0.29342	N	0.012440	T	0.59662	0.2210	N	0.20445	0.575	0.25093	N	0.990841	B;B;B	0.12013	0.003;0.0;0.005	B;B;B	0.15484	0.009;0.001;0.013	T	0.47235	-0.9133	10	0.30854	T	0.27	-7.2964	8.7845	0.34811	0.3659:0.0:0.6341:0.0	.	756;193;756	Q8IVE3;Q8IVE3-2;Q8IVE3-3	PKHH2_HUMAN;.;.	N	756	ENSP00000282406:S756N	ENSP00000282406:S756N	S	+	2	0	PLEKHH2	43791184	0.942000	0.31987	0.999000	0.59377	0.989000	0.77384	1.405000	0.34635	0.499000	0.27970	0.563000	0.77884	AGT		0.299	PLEKHH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250537.1	NM_172069		5	57	0	0	0	1	0	5	57					A	43937680	G	A	43937680	3	1	245	1	0	0	0	0	1	0	0	0	12077	1029	36	3	2317	3	PLEKHH2	2	43937680	Missense_Mutation	SNP	G	TCGA-HC-A6AO-01A-11D-A30E-08	19690642	43937680	199261693	7	11512											
FAM161A	84140	broad.mit.edu	37	chr2	62066623	62066623	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gttgcagttacaaggcacagGgtttacacctgcacatctta	11	11	9	10	0	1	0	0	0	1	0	1	0	1	0	1	2	4	6	1	2	4	5			TCGA-HC-A6AO-01A-11D-A30E-08	TCGA-HC-A6AO-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78928ca5-e8a3-4c7c-a8ca-a0e5801870f9	300a9b2e-8abd-4a19-a4fc-b5e4b266e1df	g.chr2:62066623G>T	ENST00000405894.3	-	3	1617	c.1516C>A	c.(1516-1518)Cct>Act	p.P506T	FAM161A_ENST00000404929.1_Missense_Mutation_p.P506T	NM_032180.2	NP_115556.2	Q3B820	F161A_HUMAN	family with sequence similarity 161, member A	506					cilium assembly (GO:0042384)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|photoreceptor connecting cilium (GO:0032391)				breast(1)|endometrium(5)|large_intestine(8)|lung(4)|ovary(3)|pancreas(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						CAAGGCACAGGGTTTACACCT	0.473																																						ENST00000404929.1																			0				breast(1)|endometrium(5)|large_intestine(8)|lung(4)|ovary(3)|pancreas(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						c.(1516-1518)Cct>Act		family with sequence similarity 161, member A							130	130	130					2																	62066623		1964	4168	6132	SO:0001583	missense	84140				response to stimulus|visual perception	centrosome		g.chr2:62066623G>T		CCDS42687.2, CCDS56120.1	2p15	2011-03-15			ENSG00000170264	ENSG00000170264			25808	protein-coding gene	gene with protein product		613596	"retinitis pigmentosa 28 (autosomal recessive)"	RP28		10507729, 20705278, 20705279	Standard	NM_032180		Approved	FLJ13305	uc002sbm.4	Q3B820	OTTHUMG00000152165	ENST00000405894.3:c.1516C>A	2.37:g.62066623G>T	ENSP00000385893:p.Pro506Thr					FAM161A_ENST00000405894.3_Missense_Mutation_p.P506T	p.P506T	NM_001201543.1	NP_001188472.1	Q3B820	F161A_HUMAN			3	1527	-			506					B4DJV7|Q9H8R2	Missense_Mutation	SNP	ENST00000405894.3	37	c.1516C>A	CCDS42687.2	.	.	.	.	.	.	.	.	.	.	G	6.567	0.473009	0.12461	.	.	ENSG00000170264	ENST00000404929;ENST00000405894	T;T	0.23348	2.7;1.91	5.58	1.11	0.20524	.	0.710309	0.14320	N	0.327100	T	0.24547	0.0595	M	0.73598	2.24	0.09310	N	1	B;B	0.25772	0.134;0.11	B;B	0.30029	0.11;0.037	T	0.27806	-1.0063	10	0.22109	T	0.4	-2.663	3.6662	0.08257	0.1552:0.2373:0.4864:0.121	.	506;506	Q3B820;Q3B820-3	F161A_HUMAN;.	T	506	ENSP00000385158:P506T;ENSP00000385893:P506T	ENSP00000385158:P506T	P	-	1	0	FAM161A	61920127	0.001000	0.12720	0.002000	0.10522	0.013000	0.08279	0.013000	0.13310	0.279000	0.22186	0.643000	0.83706	CCT		0.473	FAM161A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000325537.2	NM_032180		10	71	1	0	2.80697e-09	1	3.17084e-09	10	71					T	62066623	G	T	62066623	3	4	245	1	0	0	0	0	1	0	0	0	5472	1232	43	5	482	5	FAM161A	2	62066623	Missense_Mutation	SNP	G	TCGA-HC-A6AO-01A-11D-A30E-08	18128943	62066623	181132750	8	11513											
MLH1	4292	broad.mit.edu	37	chr3	37067364	37067364	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	atttctagtggcagggctagGcagcaagatgaggagatgct	11	9	15	6	0	1	3	0	1	1	2	1	4	1	3	0	4	2	5	0	4	3	3			TCGA-HC-A6AO-01A-11D-A30E-08	TCGA-HC-A6AO-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78928ca5-e8a3-4c7c-a8ca-a0e5801870f9	300a9b2e-8abd-4a19-a4fc-b5e4b266e1df	g.chr3:37067364G>A	ENST00000231790.2	+	12	1491	c.1275G>A	c.(1273-1275)agG>agA	p.R425R	MLH1_ENST00000458205.2_Silent_p.R184R|MLH1_ENST00000455445.2_Silent_p.R184R|MLH1_ENST00000536378.1_Silent_p.R184R|MLH1_ENST00000435176.1_Silent_p.R327R|MLH1_ENST00000539477.1_Silent_p.R184R	NM_000249.3|NM_001258273.1	NP_000240.1|NP_001245202.1	P40692	MLH1_HUMAN	mutL homolog 1	425	Interaction with EXO1.				ATP catabolic process (GO:0006200)|double-strand break repair via nonhomologous end joining (GO:0006303)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|isotype switching (GO:0045190)|male meiosis chromosome segregation (GO:0007060)|meiotic metaphase I plate congression (GO:0043060)|mismatch repair (GO:0006298)|negative regulation of mitotic recombination (GO:0045950)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|oogenesis (GO:0048477)|resolution of meiotic recombination intermediates (GO:0000712)|somatic hypermutation of immunoglobulin genes (GO:0016446)|spermatogenesis (GO:0007283)|spindle midzone assembly involved in meiosis (GO:0051257)|synapsis (GO:0007129)	chiasma (GO:0005712)|male germ cell nucleus (GO:0001673)|membrane (GO:0016020)|MutLalpha complex (GO:0032389)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|guanine/thymine mispair binding (GO:0032137)	p.0?(1)		NS(1)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(54)|lung(13)|oesophagus(7)|ovary(6)|pancreas(5)|prostate(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	127						GCAGGGCTAGGCAGCAAGATG	0.517		1	"D, Mis, N, F, S"		"colorectal, endometrial, ovarian, CNS"	"colorectal, endometrial, ovarian, CNS"		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome																													ENST00000231790.2		1	yes	Rec	yes	"Hereditary non-polyposis colorectal cancer, Turcot syndrome"	3	3p21.3	4292	"D, Mis, N, F, S"	E.coli MutL homolog gene			"E, O"		"colorectal, endometrial, ovarian, CNS"	"colorectal, endometrial, ovarian, CNS"		1	Whole gene deletion(1)	p.0?(1)	ovary(1)	NS(1)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(54)|lung(13)|oesophagus(7)|ovary(6)|pancreas(5)|prostate(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	127						c.(1273-1275)agG>agA	Mismatch excision repair (MMR)	mutL homolog 1							89	93	92					3																	37067364		2203	4300	6503	SO:0001819	synonymous_variant	4292	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome; ;Hereditary Non-Polyposis Colorectal Cancer, HNPCC, Lynch syndromes 1 and 2 (= Cancer Family Syndrome), Hereditary Mismatch Repair Deficiency syndrome, HMRDS;Mismatch Repair Cancer syndrome, MMRCS, Childhood Cancer Syndrome, CCS, Biallelic Mismatch Repair Gene Mutations Associated Early Onset Cancer, Lynch syndrome type III	mismatch repair|somatic hypermutation of immunoglobulin genes	chiasma|MutLalpha complex|MutLbeta complex|synaptonemal complex	ATP binding|ATPase activity|protein binding	g.chr3:37067364G>A	U07418	CCDS2663.1, CCDS54562.1, CCDS54563.1	3p22.3	2014-09-17	2013-09-12		ENSG00000076242	ENSG00000076242			7127	protein-coding gene	gene with protein product		120436	"mutL (E. coli) homolog 1 (colon cancer, nonpolyposis type 2)", "mutL homolog 1, colon cancer, nonpolyposis type 2 (E. coli)"	COCA2		7903889	Standard	NM_000249		Approved	HNPCC, FCC2, HNPCC2	uc003cgl.3	P40692	OTTHUMG00000130797	ENST00000231790.2:c.1275G>A	3.37:g.37067364G>A						MLH1_ENST00000536378.1_Silent_p.R184R|MLH1_ENST00000455445.2_Silent_p.R184R|MLH1_ENST00000458205.2_Silent_p.R184R|MLH1_ENST00000435176.1_Silent_p.R327R|MLH1_ENST00000539477.1_Silent_p.R184R	p.R425R	NM_000249.3|NM_001258273.1	NP_000240.1|NP_001245202.1	P40692	MLH1_HUMAN			12	1491	+			425			Interaction with EXO1.		B4DI13|B4DQ11|E9PCU2	Silent	SNP	ENST00000231790.2	37	c.1275G>A	CCDS2663.1	.	.	.	.	.	.	.	.	.	.	G	7.421	0.636789	0.14386	.	.	ENSG00000076242	ENST00000456676	.	.	.	4.98	-1.11	0.09840	.	.	.	.	.	T	0.21427	0.0516	.	.	.	0.27284	N	0.958034	.	.	.	.	.	.	T	0.27872	-1.0061	4	.	.	.	1.0E-4	3.0826	0.06267	0.3533:0.1092:0.4267:0.1108	.	.	.	.	D	417	.	.	G	+	2	0	MLH1	37042368	0.000000	0.05858	0.011000	0.14972	0.282000	0.26991	-0.104000	0.10923	-0.107000	0.12088	-1.045000	0.02358	GGC		0.517	MLH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253337.2	NM_000249		4	129	0	0	0	1	0	4	129					A	37067364	G	A	37067364	2	1	245	1	0	0	0	0	0	0	0	1	9617	1194	42	3		3	MLH1	3	37067364	Silent	SNP	G	TCGA-HC-A6AO-01A-11D-A30E-08		37067364	160955066	9	11514											
DPPA2	151871	broad.mit.edu	37	chr3	109027103	109027103	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccttgcgtttcctcgaacatCgctgtaatctggtctcttgt	5	16	8	12	3	2	0	0	0	2	0	6	1	3	0	2	1	2	3	2	1	2	4			TCGA-HC-A6AO-01A-11D-A30E-08	TCGA-HC-A6AO-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78928ca5-e8a3-4c7c-a8ca-a0e5801870f9	300a9b2e-8abd-4a19-a4fc-b5e4b266e1df	g.chr3:109027103C>T	ENST00000478945.1	-	6	680	c.434G>A	c.(433-435)cGa>cAa	p.R145Q		NM_138815.3	NP_620170.3	Q7Z7J5	DPPA2_HUMAN	developmental pluripotency associated 2	145					lung-associated mesenchyme development (GO:0060484)|positive regulation of stem cell proliferation (GO:2000648)|regulation of histone methylation (GO:0031060)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|nucleic acid binding (GO:0003676)			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						CCTCGAACATCGCTGTAATCT	0.438																																						ENST00000478945.1																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(433-435)cGa>cAa		developmental pluripotency associated 2							140	120	126					3																	109027103		2203	4300	6503	SO:0001583	missense	151871					nucleus	nucleic acid binding	g.chr3:109027103C>T	AY283672	CCDS2956.1	3q13.13	2010-05-04			ENSG00000163530	ENSG00000163530			19197	protein-coding gene	gene with protein product	"cancer/testis antigen 100"	614445				15583978	Standard	NM_138815		Approved	PESCRG1, CT100	uc003dxo.3	Q7Z7J5	OTTHUMG00000159227	ENST00000478945.1:c.434G>A	3.37:g.109027103C>T	ENSP00000417710:p.Arg145Gln						p.R145Q	NM_138815.3	NP_620170.3	Q7Z7J5	DPPA2_HUMAN			6	680	-			145					Q8WVF0	Missense_Mutation	SNP	ENST00000478945.1	37	c.434G>A	CCDS2956.1	.	.	.	.	.	.	.	.	.	.	C	6.040	0.375697	0.11409	.	.	ENSG00000163530	ENST00000478945	T	0.47869	0.83	3.89	6.22E-6	0.14040	.	1.830180	0.02677	N	0.109176	T	0.22475	0.0542	N	0.04508	-0.205	0.09310	N	1	B	0.20261	0.043	B	0.12156	0.007	T	0.08391	-1.0724	10	0.22706	T	0.39	0.3328	1.0189	0.01513	0.2142:0.1891:0.4201:0.1766	.	145	Q7Z7J5	DPPA2_HUMAN	Q	145	ENSP00000417710:R145Q	ENSP00000417710:R145Q	R	-	2	0	DPPA2	110509793	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.058000	0.14301	-0.023000	0.13963	-0.321000	0.08615	CGA		0.438	DPPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353938.1	NM_138815		19	38	0	0	0	1	0	19	38					T	109027103	C	T	109027103	3	4	245	1	0	0	0	0	1	0	0	0	4734	884	31	2	474	2	DPPA2	3	109027103	Missense_Mutation	SNP	C	TCGA-HC-A6AO-01A-11D-A30E-08	71959739	109027103	88995327	10	11515											
TRPC1	7220	broad.mit.edu	37	chr3	142499733	142499733	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttgctaaggatttacttgcAcaagcccggaattctcgtga	10	13	9	9	2	1	1	0	1	1	0	2	3	1	3	1	2	4	2	1	2	4	6			TCGA-HC-A6AO-01A-11D-A30E-08	TCGA-HC-A6AO-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78928ca5-e8a3-4c7c-a8ca-a0e5801870f9	300a9b2e-8abd-4a19-a4fc-b5e4b266e1df	g.chr3:142499733A>C	ENST00000476941.1	+	6	1308	c.822A>C	c.(820-822)gcA>gcC	p.A274A	TRPC1_ENST00000273482.6_Silent_p.A240A	NM_001251845.1	NP_001238774.1	P48995	TRPC1_HUMAN	transient receptor potential cation channel, subfamily C, member 1	274					axon guidance (GO:0007411)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|response to calcium ion (GO:0051592)|saliva secretion (GO:0046541)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|sarcomere (GO:0030017)	calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)|inositol 1,4,5 trisphosphate binding (GO:0070679)|ion channel binding (GO:0044325)|store-operated calcium channel activity (GO:0015279)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(2)|stomach(3)|urinary_tract(1)	37						ATTTACTTGCACAAGCCCGGA	0.378																																						ENST00000273482.6																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(2)|stomach(3)|urinary_tract(1)	37						c.(718-720)gcA>gcC		transient receptor potential cation channel, subfamily C, member 1							91	89	90					3																	142499733		2203	4300	6503	SO:0001819	synonymous_variant	7220				axon guidance|cytosolic calcium ion homeostasis|positive regulation of release of sequestered calcium ion into cytosol|response to calcium ion	cytosol|integral to plasma membrane	protein binding|store-operated calcium channel activity	g.chr3:142499733A>C	X89066	CCDS3126.1, CCDS58856.1	3q23	2011-12-14			ENSG00000144935	ENSG00000144935		"Voltage-gated ion channels / Transient receptor potential cation channels"	12333	protein-coding gene	gene with protein product		602343				7568191, 16382100	Standard	NM_001251845		Approved	HTRP-1	uc003evc.3	P48995	OTTHUMG00000159301	ENST00000476941.1:c.822A>C	3.37:g.142499733A>C						TRPC1_ENST00000476941.1_Silent_p.A274A	p.A240A	NM_003304.4	NP_003295.1	P48995	TRPC1_HUMAN			5	1111	+			274					Q14CE4	Silent	SNP	ENST00000476941.1	37	c.720A>C	CCDS58856.1																																																																																				0.378	TRPC1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000354520.1	NM_003304		4	55	0	0	0	1	0	4	55					C	142499733	A	C	142499733	2	2	245	1	0	0	0	0	0	0	0	1	16575	146	6	5		5	TRPC1	3	142499733	Silent	SNP	A	TCGA-HC-A6AO-01A-11D-A30E-08	33472630	142499733	55522697	11	11516											
DCHS2	54798	broad.mit.edu	37	chr4	155298459	155298459	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctggatccctttccctgtcGatatcttgagaaacacagat	10	12	8	11	1	1	2	0	1	1	2	4	5	3	3	2	1	1	1	2	1	2	3			TCGA-HC-A6AO-01A-11D-A30E-08	TCGA-HC-A6AO-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78928ca5-e8a3-4c7c-a8ca-a0e5801870f9	300a9b2e-8abd-4a19-a4fc-b5e4b266e1df	g.chr4:155298459G>T	ENST00000357232.4	-	3	371	c.372C>A	c.(370-372)atC>atA	p.I124I	DCHS2_ENST00000339452.1_Silent_p.I730I	NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	124	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		TTTCCCTGTCGATATCTTGAG	0.403																																						ENST00000357232.3																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176						c.(370-372)atC>atA		dachsous cadherin-related 2							137	126	130					4																	155298459		2203	4300	6503	SO:0001819	synonymous_variant	54798				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:155298459G>T	BC140919	CCDS3785.1, CCDS47150.1	4q32.1	2014-06-04	2013-10-04	2004-09-03		ENSG00000197410		"Cadherins / Cadherin-related"	23111	protein-coding gene	gene with protein product	"cadherin-related family member 7"	612486	"cadherin-like 27", "dachsous 2 (Drosophila)"	CDH27, PCDH23		15003449	Standard	NM_017639		Approved	CDHJ, FLJ20047, PCDHJ, CDHR7	uc003inw.2	Q6V1P9		ENST00000357232.4:c.372C>A	4.37:g.155298459G>T						DCHS2_ENST00000339452.1_Silent_p.I730I	p.I124I	NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN		LUSC - Lung squamous cell carcinoma(193;0.107)	3	371	-	all_hematologic(180;0.208)	Renal(120;0.0854)	124			Cadherin 1.		B2RU14|E9PC11|Q4W5P9|Q6ZS61|Q9NXU8	Silent	SNP	ENST00000357232.4	37	c.372C>A	CCDS3785.1																																																																																				0.403	DCHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365281.2	NM_001142552		4	88	1	0	0.00024832	1	0.000265746	4	88					T	155298459	G	T	155298459	2	4	245	1	0	0	0	0	0	0	0	1	4288	1048	37	5		5	DCHS2	4	155298459	Silent	SNP	G	TCGA-HC-A6AO-01A-11D-A30E-08		155298459	35855817	12	11517											
PCDHA4	56144	broad.mit.edu	37	chr5	140187069	140187069	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gaggagctgtgccggcggagCgcggagtgcagcatccacct	7	5	17	12	4	0	0	0	0	0	0	1	4	1	3	3	4	5	3	3	4	0	0			TCGA-HC-A6AO-01A-11D-A30E-08	TCGA-HC-A6AO-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78928ca5-e8a3-4c7c-a8ca-a0e5801870f9	300a9b2e-8abd-4a19-a4fc-b5e4b266e1df	g.chr5:140187069C>T	ENST00000530339.1	+	1	297	c.297C>T	c.(295-297)agC>agT	p.S99S	PCDHA4_ENST00000512229.2_Silent_p.S99S|PCDHA4_ENST00000356878.4_Silent_p.S99S|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000522353.2_Intron	NM_018907.2	NP_061730.1	Q9UN74	PCDA4_HUMAN	protocadherin alpha 4	99	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(6)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCCGGCGGAGCGCGGAGTGCA	0.592																																						ENST00000530339.1																			0				breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(6)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	78						c.(295-297)agC>agT									71	79	76					5																	140187069		2202	4290	6492	SO:0001819	synonymous_variant	0							g.chr5:140187069C>T	AF152482	CCDS54916.1	5q31	2010-11-26				ENSG00000204967		"Cadherins / Protocadherins : Clustered"	8670	other	complex locus constituent	"ortholog of mouse CNR1, KIAA0345-like 10"	606310				10380929, 10662547	Standard	NM_018907		Approved	CNR1, CRNR1, PCDH-ALPHA4, CNRN1		Q9UN74		ENST00000530339.1:c.297C>T	5.37:g.140187069C>T						PCDHA4_ENST00000356878.4_Silent_p.S99S|PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Silent_p.S99S	p.S99S	NM_018907.2	NP_061730.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	297	+								O75285|Q2M253	Silent	SNP	ENST00000530339.1	37	c.297C>T	CCDS54916.1																																																																																				0.592	PCDHA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372864.2	NM_018907		8	141	0	0	0	1	0	8	141					T	140187069	C	T	140187069	2	4	245	1	0	0	0	0	0	0	0	1	11526	767	27	1		1	PCDHA4	5	140187069	Silent	SNP	C	TCGA-HC-A6AO-01A-11D-A30E-08		140187069	40728191	13	11518											
RUNX2	860	broad.mit.edu	37	chr6	45390466	45390466	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cagcagcagcagcagcagcaAcagcagcagcagcagcagga	15	0	13	13	0	0	0	0	0	0	0	0	1	0	1	0	1	12	11	0	1	1	0	rs575896136	byFrequency	TCGA-HC-A6AO-01A-11D-A30E-08	TCGA-HC-A6AO-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78928ca5-e8a3-4c7c-a8ca-a0e5801870f9	300a9b2e-8abd-4a19-a4fc-b5e4b266e1df	g.chr6:45390466A>G	ENST00000371438.1	+	2	553	c.195A>G	c.(193-195)caA>caG	p.Q65Q	RUNX2_ENST00000352853.5_Silent_p.Q133Q|RUNX2_ENST00000541979.1_Silent_p.Q133Q|RUNX2_ENST00000465038.2_Silent_p.Q65Q|RUNX2_ENST00000359524.5_Silent_p.Q51Q|RUNX2_ENST00000371436.6_Silent_p.Q65Q|RUNX2_ENST00000576263.1_Silent_p.Q65Q|RP1-244F24.1_ENST00000606796.1_RNA|RUNX2_ENST00000371432.3_Silent_p.Q51Q	NM_001024630.3	NP_001019801.3	Q13950	RUNX2_HUMAN	runt-related transcription factor 2	65	Poly-Gln.				BMP signaling pathway (GO:0030509)|cell maturation (GO:0048469)|cellular response to BMP stimulus (GO:0071773)|chondrocyte development (GO:0002063)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic forelimb morphogenesis (GO:0035115)|endochondral ossification (GO:0001958)|gene expression (GO:0010467)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription, DNA-templated (GO:0045892)|odontogenesis of dentin-containing tooth (GO:0042475)|ossification (GO:0001503)|osteoblast development (GO:0002076)|osteoblast differentiation (GO:0001649)|osteoblast fate commitment (GO:0002051)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus (GO:1901522)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|regulation of odontogenesis of dentin-containing tooth (GO:0042487)|stem cell differentiation (GO:0048863)|T cell differentiation (GO:0030217)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						agcagcagcaacagcagcagc	0.731													A|||	8	0.00159744	0.0023	0	5008	,	,		7675	0.002		0	False		,,,				2504	0.0031					ENST00000371438.1																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						c.(193-195)caA>caG		runt-related transcription factor 2							10	15	14					6																	45390466		1452	3071	4523	SO:0001819	synonymous_variant	860				negative regulation of transcription, DNA-dependent|osteoblast differentiation|positive regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr6:45390466A>G	AF001450	CCDS43467.1, CCDS43468.1, CCDS43467.2, CCDS43468.2	6p21	2010-08-20			ENSG00000124813	ENSG00000124813			10472	protein-coding gene	gene with protein product		600211		CCD, CBFA1, CCD1		7835892	Standard	NM_001024630		Approved	AML3, PEBP2A1, PEBP2aA1	uc011dvx.2	Q13950	OTTHUMG00000014774	ENST00000371438.1:c.195A>G	6.37:g.45390466A>G						RUNX2_ENST00000371432.3_Silent_p.Q51Q|RUNX2_ENST00000576263.1_Silent_p.Q65Q|RUNX2_ENST00000465038.2_Silent_p.Q65Q|RUNX2_ENST00000352853.5_Silent_p.Q133Q|RUNX2_ENST00000371436.6_Silent_p.Q65Q|RUNX2_ENST00000359524.5_Silent_p.Q51Q|RUNX2_ENST00000541979.1_Silent_p.Q133Q	p.Q65Q	NM_001024630.3	NP_001019801.3	Q13950	RUNX2_HUMAN			2	553	+			65			Poly-Gln.		O14614|O14615|O95181	Silent	SNP	ENST00000371438.1	37	c.195A>G	CCDS43467.2																																																																																				0.731	RUNX2-003	KNOWN	not_organism_supported|upstream_ATG|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040755.2	NM_004348		3	47	0	0	0	1	0	3	47					G	45390466	A	G	45390466	2	3	245	1	0	0	0	0	0	0	0	1	13748	40	2	4		4	RUNX2	6	45390466	Silent	SNP	A	TCGA-HC-A6AO-01A-11D-A30E-08		45390466	125724601	14	11519											
MCM3	4172	broad.mit.edu	37	chr6	52148178	52148178	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcactgatcagctcccgaacTttgctctgataaattccctg	9	13	6	13	1	3	2	2	2	1	0	5	3	5	2	2	0	3	2	2	0	3	3			TCGA-HC-A6AO-01A-11D-A30E-08	TCGA-HC-A6AO-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78928ca5-e8a3-4c7c-a8ca-a0e5801870f9	300a9b2e-8abd-4a19-a4fc-b5e4b266e1df	g.chr6:52148178T>C	ENST00000229854.7	-	2	181	c.105A>G	c.(103-105)aaA>aaG	p.K35K	MCM3_ENST00000596288.1_Silent_p.K80K|MCM3_ENST00000419835.2_Intron			P25205	MCM3_HUMAN	minichromosome maintenance complex component 3	35					DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA strand elongation involved in DNA replication (GO:0006271)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)	alpha DNA polymerase:primase complex (GO:0005658)|centrosome (GO:0005813)|intracellular membrane-bounded organelle (GO:0043231)|MCM complex (GO:0042555)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)			endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	20	Lung NSC(77;0.0931)					GCTCCCGAACTTTGCTCTGAT	0.448																																						ENST00000596288.1																			0				endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	20						c.(238-240)aaA>aaG		minichromosome maintenance complex component 3							202	175	184					6																	52148178		2203	4300	6503	SO:0001819	synonymous_variant	4172				cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	alpha DNA polymerase:primase complex|centrosome|MCM complex|perinuclear region of cytoplasm	ATP binding|DNA binding|helicase activity|protein binding	g.chr6:52148178T>C	X62153	CCDS4940.1, CCDS4940.2, CCDS75468.1	6p12	2008-02-05	2007-04-04		ENSG00000112118	ENSG00000112118			6945	protein-coding gene	gene with protein product		602693	"minichromosome maintenance deficient (S. cerevisiae) 3", "MCM3 minichromosome maintenance deficient 3 (S. cerevisiae)"			1549468	Standard	NM_002388		Approved		uc011dwu.2	P25205	OTTHUMG00000014844	ENST00000229854.7:c.105A>G	6.37:g.52148178T>C						MCM3_ENST00000419835.2_Intron|MCM3_ENST00000229854.7_Silent_p.K35K	p.K80K	NM_002388.4	NP_002379.3	P25205	MCM3_HUMAN			2	267	-	Lung NSC(77;0.0931)		35					B4DWW4|Q92660|Q9BTR3|Q9NUE7	Silent	SNP	ENST00000229854.7	37	c.240A>G																																																																																					0.448	MCM3-006	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000470784.1			5	79	0	0	0	1	0	5	79					C	52148178	T	C	52148178	2	2	245	1	0	0	0	0	0	0	0	1	9387	1606	56	4		4	MCM3	6	52148178	Silent	SNP	T	TCGA-HC-A6AO-01A-11D-A30E-08	6757712	52148178	118966889	15	11520											
PHIP	55023	broad.mit.edu	37	chr6	79692791	79692791	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctttggtggctgcagattaaTtcctgcatctgctgtccagt	6	15	10	10	0	1	1	0	0	1	1	3	1	3	1	2	2	3	4	2	2	1	3			TCGA-HC-A6AO-01A-11D-A30E-08	TCGA-HC-A6AO-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78928ca5-e8a3-4c7c-a8ca-a0e5801870f9	300a9b2e-8abd-4a19-a4fc-b5e4b266e1df	g.chr6:79692791T>A	ENST00000275034.4	-	23	2748	c.2581A>T	c.(2581-2583)Att>Ttt	p.I861F	PHIP_ENST00000479165.1_5'Flank	NM_017934.5	NP_060404	Q8WWQ0	PHIP_HUMAN	pleckstrin homology domain interacting protein	861					cytoskeleton organization (GO:0007010)|insulin receptor signaling pathway (GO:0008286)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of mitosis (GO:0045840)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein import into nucleus (GO:0006606)|regulation of cell morphogenesis (GO:0022604)|regulation of growth (GO:0040008)|regulation of protein phosphorylation (GO:0001932)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	insulin receptor binding (GO:0005158)|lysine-acetylated histone binding (GO:0070577)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(10)|kidney(4)|large_intestine(20)|lung(20)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	68		all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219)		BRCA - Breast invasive adenocarcinoma(397;0.231)		TGCAGATTAATTCCTGCATCT	0.363																																						ENST00000275034.4																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(10)|kidney(4)|large_intestine(20)|lung(20)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	68						c.(2581-2583)Att>Ttt		pleckstrin homology domain interacting protein							106	108	108					6																	79692791		2203	4300	6503	SO:0001583	missense	55023				insulin receptor signaling pathway|negative regulation of apoptosis|positive regulation of cell proliferation|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of mitosis	nucleus	insulin receptor binding	g.chr6:79692791T>A	AF310250	CCDS4987.1	6q14	2013-01-09			ENSG00000146247	ENSG00000146247		"WD repeat domain containing", "DDB1 and CUL4 associated factors"	15673	protein-coding gene	gene with protein product	"DDB1 and CUL4 associated factor 14"	612870		WDR11		11018022	Standard	NM_017934		Approved	ndrp, FLJ20705, DCAF14, BRWD2	uc003pir.3	Q8WWQ0	OTTHUMG00000015071	ENST00000275034.4:c.2581A>T	6.37:g.79692791T>A	ENSP00000275034:p.Ile861Phe						p.I861F	NM_017934.5	NP_060404.3	Q8WWQ0	PHIP_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.231)	23	2748	-		all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219)	861					A7J992|B2RPK4|Q05CQ9|Q5VVH4|Q66I29|Q69YV1|Q8NBZ5|Q96H52|Q96ME2|Q9H261	Missense_Mutation	SNP	ENST00000275034.4	37	c.2581A>T	CCDS4987.1	.	.	.	.	.	.	.	.	.	.	T	26.5	4.745577	0.89663	.	.	ENSG00000146247	ENST00000275034	T	0.55760	0.5	5.3	5.3	0.74995	.	0.000000	0.85682	D	0.000000	T	0.64527	0.2606	M	0.76170	2.325	0.80722	D	1	D;D	0.65815	0.995;0.995	D;D	0.72982	0.979;0.979	T	0.67669	-0.5611	9	.	.	.	-16.9044	14.42	0.67177	0.0:0.0:0.0:1.0	.	861;861	A7J992;Q8WWQ0	.;PHIP_HUMAN	F	861	ENSP00000275034:I861F	.	I	-	1	0	PHIP	79749510	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.694000	0.84235	2.002000	0.58637	0.383000	0.25322	ATT		0.363	PHIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041297.2			7	82	0	0	0	1	0	7	82					A	79692791	T	A	79692791	3	1	245	1	0	0	0	0	1	0	0	0	11842	1493	52	5	2956	5	PHIP	6	79692791	Missense_Mutation	SNP	T	TCGA-HC-A6AO-01A-11D-A30E-08	27544613	79692791	91422276	16	11521											
ABCA13	154664	broad.mit.edu	37	chr7	48428693	48428693	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagtgccccgggagtcaccCtggtgtctgtgaccaaggaa	9	7	14	11	1	2	1	1	1	1	0	2	4	2	3	4	3	1	0	4	3	3	0			TCGA-HC-A6AO-01A-11D-A30E-08	TCGA-HC-A6AO-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78928ca5-e8a3-4c7c-a8ca-a0e5801870f9	300a9b2e-8abd-4a19-a4fc-b5e4b266e1df	g.chr7:48428693C>T	ENST00000435803.1	+	37	11554	c.11530C>T	c.(11530-11532)Ctg>Ttg	p.L3844L		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	3844	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						GGGAGTCACCCTGGTGTCTGT	0.517																																						ENST00000435803.1																			0				breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						c.(11530-11532)Ctg>Ttg		ATP-binding cassette, sub-family A (ABC1), member 13							75	77	76					7																	48428693		1905	4132	6037	SO:0001819	synonymous_variant	154664				transport	integral to membrane	ATP binding|ATPase activity	g.chr7:48428693C>T	AY204751	CCDS47584.1	7p12.3	2012-03-14			ENSG00000179869	ENSG00000179869		"ATP binding cassette transporters / subfamily A"	14638	protein-coding gene	gene with protein product		607807				12697998	Standard	NM_152701		Approved	FLJ33876, FLJ33951	uc003toq.2	Q86UQ4	OTTHUMG00000155840	ENST00000435803.1:c.11530C>T	7.37:g.48428693C>T							p.L3844L	NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN			37	11554	+			3844			ABC transporter 1.		K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Silent	SNP	ENST00000435803.1	37	c.11530C>T	CCDS47584.1																																																																																				0.517	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341964.2	NM_152701		42	58	0	0	0	1	0	42	58					T	48428693	C	T	48428693	2	4	245	1	0	0	0	0	0	0	0	1	31	680	24	3		3	ABCA13	7	48428693	Silent	SNP	C	TCGA-HC-A6AO-01A-11D-A30E-08		48428693	110709970	17	11522			1	26		2	2	39	N	T_C	6.137407e-05
ABCA13	154664	broad.mit.edu	37	chr7	48428731	48428731	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaatatgagggccacaaggcTgtggtccaagacctcagcct	11	7	12	11	0	1	2	1	1	0	1	2	3	2	2	4	3	1	1	4	3	4	1			TCGA-HC-A6AO-01A-11D-A30E-08	TCGA-HC-A6AO-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78928ca5-e8a3-4c7c-a8ca-a0e5801870f9	300a9b2e-8abd-4a19-a4fc-b5e4b266e1df	g.chr7:48428731T>A	ENST00000435803.1	+	37	11592	c.11568T>A	c.(11566-11568)gcT>gcA	p.A3856A		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	3856	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						GCCACAAGGCTGTGGTCCAAG	0.552																																						ENST00000435803.1																			0				breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						c.(11566-11568)gcT>gcA		ATP-binding cassette, sub-family A (ABC1), member 13							70	72	71					7																	48428731		1914	4146	6060	SO:0001819	synonymous_variant	154664				transport	integral to membrane	ATP binding|ATPase activity	g.chr7:48428731T>A	AY204751	CCDS47584.1	7p12.3	2012-03-14			ENSG00000179869	ENSG00000179869		"ATP binding cassette transporters / subfamily A"	14638	protein-coding gene	gene with protein product		607807				12697998	Standard	NM_152701		Approved	FLJ33876, FLJ33951	uc003toq.2	Q86UQ4	OTTHUMG00000155840	ENST00000435803.1:c.11568T>A	7.37:g.48428731T>A							p.A3856A	NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN			37	11592	+			3856			ABC transporter 1.		K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Silent	SNP	ENST00000435803.1	37	c.11568T>A	CCDS47584.1																																																																																				0.552	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341964.2	NM_152701		41	54	0	0	0	1	0	41	54					A	48428731	T	A	48428731	2	1	245	1	0	0	0	0	0	0	0	1	31	1567	55	5		5	ABCA13	7	48428731	Silent	SNP	T	TCGA-HC-A6AO-01A-11D-A30E-08	38	48428731	110709932	18	11523			1	26		2	2	39	N	T_C	6.137407e-05
FOXP2	93986	broad.mit.edu	37	chr7	114269973	114269973	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cagcaacaacagcagcagcaAcaacaacaacaacagcagca	21	0	6	14	0	0	0	0	0	0	0	0	0	0	0	0	0	13	6	0	0	7	0	rs576887296|rs398124272	byFrequency	TCGA-HC-A6AO-01A-11D-A30E-08	TCGA-HC-A6AO-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78928ca5-e8a3-4c7c-a8ca-a0e5801870f9	300a9b2e-8abd-4a19-a4fc-b5e4b266e1df	g.chr7:114269973A>G	ENST00000393494.2	+	5	789	c.510A>G	c.(508-510)caA>caG	p.Q170Q	FOXP2_ENST00000408937.3_Silent_p.Q195Q|FOXP2_ENST00000393498.2_Silent_p.Q150Q|FOXP2_ENST00000350908.4_Silent_p.Q170Q|AC020606.1_ENST00000580664.1_RNA|FOXP2_ENST00000360232.4_Silent_p.Q170Q|FOXP2_ENST00000390668.3_Silent_p.Q194Q|FOXP2_ENST00000393491.3_Silent_p.Q78Q|FOXP2_ENST00000393489.3_Silent_p.Q78Q|FOXP2_ENST00000378237.3_Silent_p.Q170Q|FOXP2_ENST00000403559.4_Silent_p.Q187Q|FOXP2_ENST00000393500.3_Silent_p.Q95Q			O15409	FOXP2_HUMAN	forkhead box P2	170	Gln-rich.				camera-type eye development (GO:0043010)|caudate nucleus development (GO:0021757)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|growth (GO:0040007)|lung alveolus development (GO:0048286)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of epithelial cell proliferation involved in lung morphogenesis (GO:0060501)|positive regulation of mesenchymal cell proliferation (GO:0002053)|post-embryonic development (GO:0009791)|putamen development (GO:0021758)|righting reflex (GO:0060013)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|vocal learning (GO:0042297)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.Q195Q(1)		breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						agcagcagcaacaacaacaac	0.502																																						ENST00000393500.3																			1	Substitution - coding silent(1)	p.Q195Q(1)	kidney(1)	breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						c.(283-285)caA>caG		forkhead box P2							37	35	35					7																	114269973		2203	4294	6497	SO:0001819	synonymous_variant	93986				camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding	g.chr7:114269973A>G	U80741	CCDS5760.1, CCDS5761.1, CCDS43635.1, CCDS5761.2, CCDS55154.1	7q31	2008-07-18			ENSG00000128573	ENSG00000128573		"Forkhead boxes"	13875	protein-coding gene	gene with protein product	"trinucleotide repeat containing 10", "forkhead/winged-helix transcription factor", "speech and language disorder 1", "CAG repeat protein 44"	605317		TNRC10, SPCH1		11586359, 9225980	Standard	NM_014491		Approved	CAGH44	uc003vgz.3	O15409	OTTHUMG00000023131	ENST00000393494.2:c.510A>G	7.37:g.114269973A>G						AC020606.1_ENST00000580664.1_RNA|FOXP2_ENST00000390668.3_Silent_p.Q194Q|FOXP2_ENST00000393494.2_Silent_p.Q170Q|FOXP2_ENST00000403559.4_Silent_p.Q187Q|FOXP2_ENST00000393491.3_Silent_p.Q78Q|FOXP2_ENST00000350908.4_Silent_p.Q170Q|FOXP2_ENST00000408937.3_Silent_p.Q195Q|FOXP2_ENST00000360232.4_Silent_p.Q170Q|FOXP2_ENST00000393498.2_Silent_p.Q150Q|FOXP2_ENST00000393489.3_Silent_p.Q78Q|FOXP2_ENST00000378237.3_Silent_p.Q170Q	p.Q95Q			O15409	FOXP2_HUMAN			11	1105	+			170			Gln-rich.		A0AUV6|A4D0U8|A6NNW4|B4DLD9|Q6ZND1|Q75MJ3|Q8IZE0|Q8N0W2|Q8N6B7|Q8N6B8|Q8NFQ1|Q8NFQ2|Q8NFQ3|Q8NFQ4|Q8TD74	Silent	SNP	ENST00000393494.2	37	c.285A>G	CCDS5760.1																																																																																				0.502	FOXP2-014	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317366.1	NM_014491		3	57	0	0	0	1	0	3	57					G	114269973	A	G	114269973	2	3	245	1	0	0	0	0	0	0	0	1	6027	40	2	4		4	FOXP2	7	114269973	Silent	SNP	A	TCGA-HC-A6AO-01A-11D-A30E-08	65841242	114269973	44868690	19	11524											
CSMD3	114788	broad.mit.edu	37	chr8	113256714	113256714	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aagaagaagccaggctgacaGgtataaatcagtgtataccc	16	7	10	8	0	1	3	1	1	0	2	1	3	1	3	2	2	2	3	2	2	8	4			TCGA-HC-A6AO-01A-11D-A30E-08	TCGA-HC-A6AO-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78928ca5-e8a3-4c7c-a8ca-a0e5801870f9	300a9b2e-8abd-4a19-a4fc-b5e4b266e1df	g.chr8:113256714G>A	ENST00000297405.5	-	65	10555	c.10311C>T	c.(10309-10311)acC>acT	p.T3437T	CSMD3_ENST00000343508.3_Silent_p.T3397T|CSMD3_ENST00000352409.3_Silent_p.T3367T|CSMD3_ENST00000455883.2_Silent_p.T3268T	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3437	Sushi 28. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						CAGGCTGACAGGTATAAATCA	0.438										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												ENST00000297405.5																			0				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						c.(10309-10311)acC>acT		CUB and Sushi multiple domains 3							134	117	123					8																	113256714		2203	4300	6503	SO:0001819	synonymous_variant	114788					integral to membrane|plasma membrane		g.chr8:113256714G>A	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.10311C>T	8.37:g.113256714G>A		HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_ENST00000455883.2_Silent_p.T3268T|CSMD3_ENST00000343508.3_Silent_p.T3397T|CSMD3_ENST00000352409.3_Silent_p.T3367T	p.T3437T	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN			65	10555	-			3437			Sushi 28.		Q96PZ3	Silent	SNP	ENST00000297405.5	37	c.10311C>T	CCDS6315.1																																																																																				0.438	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		90	45	0	0	0	1	0	90	45					A	113256714	G	A	113256714	2	1	245	1	0	0	0	0	0	0	0	1	3946	987	35	3		3	CSMD3	8	113256714	Silent	SNP	G	TCGA-HC-A6AO-01A-11D-A30E-08		113256714	33107308	20	11525											
TLE1	7088	broad.mit.edu	37	chr9	84199168	84199168	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cccccgagccagtgactatgTacttatcatccacagagatg	11	9	8	13	1	1	2	1	1	0	1	2	4	2	2	4	0	2	1	4	0	3	3			TCGA-HC-A6AO-01A-11D-A30E-08	TCGA-HC-A6AO-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78928ca5-e8a3-4c7c-a8ca-a0e5801870f9	300a9b2e-8abd-4a19-a4fc-b5e4b266e1df	g.chr9:84199168T>C	ENST00000376499.3	-	20	3322	c.2258A>G	c.(2257-2259)tAc>tGc	p.Y753C		NM_005077.3	NP_005068.2	Q04724	TLE1_HUMAN	transducin-like enhancer of split 1 (E(sp1) homolog, Drosophila)	753					multicellular organismal development (GO:0007275)|negative regulation of anoikis (GO:2000811)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of Wnt signaling pathway (GO:0030178)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|positive regulation of gene expression (GO:0010628)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|identical protein binding (GO:0042802)|RNA polymerase II transcription corepressor activity (GO:0001106)|transcription factor binding (GO:0008134)			NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	29						AGTGACTATGTACTTATCATC	0.418																																					NSCLC(155;1437 1995 30668 39354 45875)|Melanoma(16;266 781 14000 47728 51870)	ENST00000376499.3																			0				NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	29						c.(2257-2259)tAc>tGc		transducin-like enhancer of split 1 (E(sp1) homolog, Drosophila)							141	130	134					9																	84199168		2203	4300	6503	SO:0001583	missense	7088				negative regulation of Wnt receptor signaling pathway|organ morphogenesis|transcription, DNA-dependent|Wnt receptor signaling pathway		transcription factor binding	g.chr9:84199168T>C		CCDS6661.1	9q21.32	2013-01-10	2001-11-28		ENSG00000196781	ENSG00000196781		"WD repeat domain containing"	11837	protein-coding gene	gene with protein product	"enhancer of split groucho 1"	600189	"transducin-like enhancer of split 1, homolog of Drosophila E(sp1)"			8365415, 8808280	Standard	NM_005077		Approved	ESG1, GRG1, ESG	uc004aly.3	Q04724	OTTHUMG00000021008	ENST00000376499.3:c.2258A>G	9.37:g.84199168T>C	ENSP00000365682:p.Tyr753Cys						p.Y753C	NM_005077.3	NP_005068.2	Q04724	TLE1_HUMAN			20	3322	-			753					A8K495|Q5T3G4|Q969V9	Missense_Mutation	SNP	ENST00000376499.3	37	c.2258A>G	CCDS6661.1	.	.	.	.	.	.	.	.	.	.	t	21.8	4.198363	0.79015	.	.	ENSG00000196781	ENST00000376499	T	0.12569	2.67	5.14	5.14	0.70334	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.058829	0.64402	D	0.000001	T	0.34395	0.0896	L	0.57536	1.79	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.04723	-1.0931	10	0.87932	D	0	-25.0624	15.415	0.74960	0.0:0.0:0.0:1.0	.	738;753	B4DEF9;Q04724	.;TLE1_HUMAN	C	753	ENSP00000365682:Y753C	ENSP00000365682:Y753C	Y	-	2	0	TLE1	83388988	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.800000	0.85949	2.281000	0.76405	0.533000	0.62120	TAC		0.418	TLE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055407.1	NM_005077		13	54	0	0	0	1	0	13	54					C	84199168	T	C	84199168	3	2	245	1	0	0	0	0	1	0	0	0	15935	1638	57	4	58	4	TLE1	9	84199168	Missense_Mutation	SNP	T	TCGA-HC-A6AO-01A-11D-A30E-08		84199168	57014263	21	11526											
HABP4	22927	broad.mit.edu	37	chr9	99212613	99212614	+	Frame_Shift_Del	DEL	GA	GA	-																															ccgctggcgccgcgatgcagGagagtttcggctgcgtggtg																										TCGA-HC-A6AO-01A-11D-A30E-08	TCGA-HC-A6AO-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78928ca5-e8a3-4c7c-a8ca-a0e5801870f9	300a9b2e-8abd-4a19-a4fc-b5e4b266e1df	g.chr9:99212613_99212614delGA	ENST00000375249.4	+	1	127_128	c.52_53delGA	c.(52-54)gagfs	p.E18fs	HABP4_ENST00000375251.3_Frame_Shift_Del_p.E18fs	NM_014282.2	NP_055097.2			hyaluronan binding protein 4											NS(1)|cervix(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	13		Acute lymphoblastic leukemia(62;0.0169)|all_hematologic(171;0.214)				CGCGATGCAGGAGAGTTTCGGC	0.733																																						ENST00000375249.4																			0				NS(1)|cervix(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	13						c.(52-54)gfs		hyaluronan binding protein 4																																				SO:0001589	frameshift_variant	22927				platelet activation|platelet degranulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|extracellular region|nucleus	protein binding	g.chr9:99212613_99212614delGA	AF241831	CCDS6719.1	9q22.3-q31	2008-02-05			ENSG00000130956	ENSG00000130956			17062	protein-coding gene	gene with protein product						9523163, 10887182	Standard	XM_005251812		Approved	IHABP4, SERBP1L	uc010msg.3	Q5JVS0	OTTHUMG00000020298	ENST00000375249.4:c.52_53delGA	9.37:g.99212615_99212616delGA	ENSP00000364398:p.Glu18fs					HABP4_ENST00000375251.3_Frame_Shift_Del_p.E18fs	p.E18fs	NM_014282.2	NP_055097.2	Q5JVS0	HABP4_HUMAN			1	127_128	+		Acute lymphoblastic leukemia(62;0.0169)|all_hematologic(171;0.214)	18						Frame_Shift_Del	DEL	ENST00000375249.4	37	c.52_53delGA	CCDS6719.1																																																																																				0.733	HABP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053269.1	NM_014282		2	4						2	4	---	---	---	---	-	99212614	GA	-	99212613	7	5	245	1	0	1	0	1	0	0	0	0	6939	1175	41	0	54	0	HABP4	9	99212613	Frame_Shift_Del	DEL	GA	TCGA-HC-A6AO-01A-11D-A30E-08	15013445	99212613	42000818	22	11527											
ADRA2A	150	broad.mit.edu	37	chr10	112837941	112837941	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctgctcatgctgctcaccGtgttcggcaacgtgctcgtc	4	11	11	15	4	2	0	2	0	0	0	5	0	2	0	2	1	5	6	2	1	1	1			TCGA-HC-A6AO-01A-11D-A30E-08	TCGA-HC-A6AO-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78928ca5-e8a3-4c7c-a8ca-a0e5801870f9	300a9b2e-8abd-4a19-a4fc-b5e4b266e1df	g.chr10:112837941G>A	ENST00000280155.2	+	1	1152	c.187G>A	c.(187-189)Gtg>Atg	p.V63M		NM_000681.3	NP_000672.3	P08913	ADA2A_HUMAN	adrenoceptor alpha 2A	48					actin cytoskeleton organization (GO:0030036)|activation of MAPK activity by adrenergic receptor signaling pathway (GO:0071883)|activation of protein kinase activity (GO:0032147)|activation of protein kinase B activity (GO:0032148)|acute inflammatory response (GO:0002526)|adenylate cyclase-inhibiting adrenergic receptor signaling pathway (GO:0071881)|blood coagulation (GO:0007596)|cellular component movement (GO:0006928)|cellular response to hormone stimulus (GO:0032870)|DNA replication (GO:0006260)|energy reserve metabolic process (GO:0006112)|epidermal growth factor-activated receptor transactivation by G-protein coupled receptor signaling pathway (GO:0035625)|fear response (GO:0042596)|female pregnancy (GO:0007565)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|intestinal absorption (GO:0050892)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of adrenergic receptor signaling pathway (GO:0071878)|negative regulation of calcium ion transmembrane transporter activity (GO:1901020)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of cAMP biosynthetic process (GO:0030818)|negative regulation of epinephrine secretion (GO:0032811)|negative regulation of insulin secretion (GO:0046676)|negative regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061179)|negative regulation of lipid catabolic process (GO:0050995)|negative regulation of norepinephrine secretion (GO:0010700)|negative regulation of uterine smooth muscle contraction (GO:0070473)|phospholipase C-activating adrenergic receptor signaling pathway (GO:0071882)|platelet activation (GO:0030168)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokine production (GO:0001819)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|positive regulation of potassium ion transport (GO:0043268)|positive regulation of vasodilation (GO:0045909)|positive regulation of wound healing (GO:0090303)|Ras protein signal transduction (GO:0007265)|regulation of insulin secretion (GO:0050796)|regulation of vasoconstriction (GO:0019229)|Rho protein signal transduction (GO:0007266)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|thermoception (GO:0050955)	basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|synapse (GO:0045202)	alpha-1B adrenergic receptor binding (GO:0031692)|alpha-2C adrenergic receptor binding (GO:0031696)|alpha2-adrenergic receptor activity (GO:0004938)|epinephrine binding (GO:0051379)|heterotrimeric G-protein binding (GO:0032795)|norepinephrine binding (GO:0051380)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|thioesterase binding (GO:0031996)			breast(1)|cervix(3)|endometrium(6)|large_intestine(3)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Breast(234;0.0735)|Lung NSC(174;0.238)		Epithelial(162;0.000316)|all cancers(201;0.00501)|BRCA - Breast invasive adenocarcinoma(275;0.118)	Amitriptyline(DB00321)|Amoxapine(DB00543)|Amphetamine(DB00182)|Apomorphine(DB00714)|Apraclonidine(DB00964)|Aripiprazole(DB01238)|Asenapine(DB06216)|Benzphetamine(DB00865)|Bethanidine(DB00217)|Brimonidine(DB00484)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Clonidine(DB00575)|Clozapine(DB00363)|Desipramine(DB01151)|Dexmedetomidine(DB00633)|Dihydroergotamine(DB00320)|Dipivefrin(DB00449)|Doxepin(DB01142)|Dronedarone(DB04855)|Droxidopa(DB06262)|Ephedra(DB01363)|Epinastine(DB00751)|Epinephrine(DB00668)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Flupirtine(DB06623)|Guanabenz(DB00629)|Guanfacine(DB01018)|Lisuride(DB00589)|Lofexidine(DB04948)|Loxapine(DB00408)|Lurasidone(DB08815)|Maprotiline(DB00934)|Mephentermine(DB01365)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Methyldopa(DB00968)|Mianserin(DB06148)|Mirtazapine(DB00370)|Naphazoline(DB06711)|Nefazodone(DB01149)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxymetazoline(DB00935)|Paliperidone(DB01267)|Pergolide(DB01186)|Phenoxybenzamine(DB00925)|Phentolamine(DB00692)|Phenylpropanolamine(DB00397)|Pramipexole(DB00413)|Prazosin(DB00457)|Propericiazine(DB01608)|Pseudoephedrine(DB00852)|Quetiapine(DB01224)|Risperidone(DB00734)|Ropinirole(DB00268)|Tizanidine(DB00697)|Tolazoline(DB00797)|Trazodone(DB00656)|Trimipramine(DB00726)|Xylometazoline(DB06694)|Yohimbine(DB01392)|Ziprasidone(DB00246)	GCTGCTCACCGTGTTCGGCAA	0.697																																					Esophageal Squamous(173;605 2658 7278 49362)	ENST00000280155.2																			0				breast(1)|cervix(3)|endometrium(6)|large_intestine(3)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(187-189)Gtg>Atg		adrenoceptor alpha 2A	Amitriptyline(DB00321)|Amphetamine(DB00182)|Apraclonidine(DB00964)|Benzphetamine(DB00865)|Bethanidine(DB00217)|Brimonidine(DB00484)|Clonidine(DB00575)|Debrisoquin(DB04840)|Dexmedetomidine(DB00633)|Dipivefrin(DB00449)|Epinastine(DB00751)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Guanabenz(DB00629)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Guanfacine(DB01018)|Lofexidine(DB04948)|Methyldopa(DB00968)|Mianserin(DB06148)|Mirtazapine(DB00370)|Norepinephrine(DB00368)|Oxymetazoline(DB00935)|Phentolamine(DB00692)|Phenylpropanolamine(DB00397)|Pseudoephedrine(DB00852)|Tizanidine(DB00697)|Trazodone(DB00656)|Yohimbine(DB01392)						40	36	37					10																	112837941		2203	4300	6503	SO:0001583	missense	150				actin cytoskeleton organization|activation of MAPK activity by adrenergic receptor signaling pathway|activation of phospholipase C activity by adrenergic receptor signaling pathway|activation of protein kinase B activity|blood coagulation|cellular component movement|cellular response to hormone stimulus|energy reserve metabolic process|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|glucose homeostasis|inhibition of adenylate cyclase activity by adrenergic receptor signaling pathway|intestinal absorption|negative regulation of adrenergic receptor signaling pathway|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of cAMP biosynthetic process|negative regulation of epinephrine secretion|negative regulation of insulin secretion involved in cellular response to glucose stimulus|negative regulation of lipid catabolic process|negative regulation of norepinephrine secretion|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of cytokine production|positive regulation of membrane protein ectodomain proteolysis|positive regulation of potassium ion transport|positive regulation of wound healing|Rho protein signal transduction	basolateral plasma membrane|cytoplasm|integral to plasma membrane|receptor complex	alpha-1B adrenergic receptor binding|alpha-2C adrenergic receptor binding|alpha2-adrenergic receptor activity|epinephrine binding|heterotrimeric G-protein binding|norepinephrine binding|protein heterodimerization activity|protein homodimerization activity|protein kinase binding|thioesterase binding	g.chr10:112837941G>A	AF284095	CCDS7569.2	10q25.2	2012-08-08	2012-05-09		ENSG00000150594	ENSG00000150594		"GPCR / Class A : Adrenoceptors : alpha"	281	protein-coding gene	gene with protein product	"alpha-2AAR subtype C10", " alpha-2A-adrenergic receptor"	104210	"adrenergic, alpha-2A-, receptor"	ADRA2, ADRA2R			Standard	NM_000681		Approved	ADRAR	uc001kzo.3	P08913	OTTHUMG00000019050	ENST00000280155.2:c.187G>A	10.37:g.112837941G>A	ENSP00000280155:p.Val63Met						p.V63M	NM_000681.3	NP_000672.3	P08913	ADA2A_HUMAN		Epithelial(162;0.000316)|all cancers(201;0.00501)|BRCA - Breast invasive adenocarcinoma(275;0.118)	1	1152	+		Breast(234;0.0735)|Lung NSC(174;0.238)	48					B0LPF6|Q2I8G2|Q2XN99|Q86TH8|Q9BZK1	Missense_Mutation	SNP	ENST00000280155.2	37	c.187G>A	CCDS7569.2	.	.	.	.	.	.	.	.	.	.	G	18.28	3.589512	0.66105	.	.	ENSG00000150594	ENST00000280155	T	0.41758	0.99	4.8	4.8	0.61643	.	0.651816	0.14536	U	0.313591	T	0.41305	0.1153	N	0.19112	0.55	0.44194	D	0.997016	D	0.71674	0.998	P	0.56648	0.803	T	0.32851	-0.9891	10	0.87932	D	0	.	8.8631	0.35269	0.1671:0.0:0.8329:0.0	.	48	P08913	ADA2A_HUMAN	M	63	ENSP00000280155:V63M	ENSP00000280155:V63M	V	+	1	0	ADRA2A	112827931	1.000000	0.71417	0.319000	0.25293	0.990000	0.78478	3.425000	0.52771	2.214000	0.71695	0.555000	0.69702	GTG		0.697	ADRA2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050372.2	NM_000681		3	21	0	0	0	1	0	3	21					A	112837941	G	A	112837941	3	1	245	1	0	0	0	0	1	0	0	0	337	1145	40	1	189	1	ADRA2A	10	112837941	Missense_Mutation	SNP	G	TCGA-HC-A6AO-01A-11D-A30E-08		112837941	22696806	23	11528											
ACCSL	390110	broad.mit.edu	37	chr11	44069763	44069763	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ctgtcgctggaggaaaggagGcacactgaggccatctgtga	10	7	15	9	1	1	2	0	2	1	0	2	5	1	5	1	5	0	2	1	5	1	0			TCGA-HC-A6AO-01A-11D-A30E-08	TCGA-HC-A6AO-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78928ca5-e8a3-4c7c-a8ca-a0e5801870f9	300a9b2e-8abd-4a19-a4fc-b5e4b266e1df	g.chr11:44069763G>A	ENST00000378832.1	+	1	233	c.177G>A	c.(175-177)agG>agA	p.R59R		NM_001031854.2	NP_001027025.2	Q4AC99	1A1L2_HUMAN	1-aminocyclopropane-1-carboxylate synthase homolog (Arabidopsis)(non-functional)-like	59					biosynthetic process (GO:0009058)		catalytic activity (GO:0003824)|pyridoxal phosphate binding (GO:0030170)			central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(14)|ovary(5)|pancreas(1)|skin(2)	34						AGGAAAGGAGGCACACTGAGG	0.587																																						ENST00000378832.1																			0				central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(14)|ovary(5)|pancreas(1)|skin(2)	34						c.(175-177)agG>agA		1-aminocyclopropane-1-carboxylate synthase homolog (Arabidopsis)(non-functional)-like							66	75	72					11																	44069763		2121	4236	6357	SO:0001819	synonymous_variant	390110						1-aminocyclopropane-1-carboxylate synthase activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups	g.chr11:44069763G>A		CCDS41636.1	11p11.2	2008-11-26			ENSG00000205126	ENSG00000205126			34391	protein-coding gene	gene with protein product							Standard	NM_001031854		Approved		uc001mxw.1	Q4AC99	OTTHUMG00000166426	ENST00000378832.1:c.177G>A	11.37:g.44069763G>A							p.R59R	NM_001031854.2	NP_001027025.2	Q4AC99	1A1L2_HUMAN			1	233	+			59						Silent	SNP	ENST00000378832.1	37	c.177G>A	CCDS41636.1																																																																																				0.587	ACCSL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389717.1	NM_001031854		4	103	0	0	0	1	0	4	103					A	44069763	G	A	44069763	2	1	245	1	0	0	0	0	0	0	0	1	134	1194	42	3		3	ACCSL	11	44069763	Silent	SNP	G	TCGA-HC-A6AO-01A-11D-A30E-08		44069763	90936753	24	11529											
NRXN2	9379	broad.mit.edu	37	chr11	64416297	64416297	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggtccactgaggccaggcaGccctgaaagccatcccggga	10	4	13	14	1	0	2	0	2	0	0	2	3	2	3	5	4	2	1	5	4	1	0			TCGA-HC-A6AO-01A-11D-A30E-08	TCGA-HC-A6AO-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78928ca5-e8a3-4c7c-a8ca-a0e5801870f9	300a9b2e-8abd-4a19-a4fc-b5e4b266e1df	g.chr11:64416297G>T	ENST00000377551.1	-	15	3403	c.3192C>A	c.(3190-3192)ggC>ggA	p.G1064G	NRXN2_ENST00000377559.3_Silent_p.G1024G|NRXN2_ENST00000409571.1_Silent_p.G1057G|AP001092.4_ENST00000433606.1_RNA|NRXN2_ENST00000265459.6_Silent_p.G1064G			Q9P2S2	NRX2A_HUMAN	neurexin 2	1064	Laminin G-like 5. {ECO:0000255|PROSITE- ProRule:PRU00122}.				adult behavior (GO:0030534)|gephyrin clustering (GO:0097116)|neuroligin clustering (GO:0097118)|neuron cell-cell adhesion (GO:0007158)|neurotransmitter secretion (GO:0007269)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	integral component of membrane (GO:0016021)	calcium channel regulator activity (GO:0005246)|cell adhesion molecule binding (GO:0050839)|metal ion binding (GO:0046872)|neuroligin family protein binding (GO:0097109)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	71						AGGCCAGGCAGCCCTGAAAGC	0.617																																						ENST00000265459.6																			0				breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	71						c.(3190-3192)ggC>ggA		neurexin 2							116	107	110					11																	64416297		2201	4297	6498	SO:0001819	synonymous_variant	9379				cell adhesion	integral to membrane	metal ion binding	g.chr11:64416297G>T		CCDS8077.1, CCDS31597.1, CCDS8078.1	11q13	2008-07-18			ENSG00000110076	ENSG00000110076			8009	protein-coding gene	gene with protein product	"neurexin II"	600566				1621094	Standard	NM_015080		Approved		uc021qkw.1	P58401	OTTHUMG00000045214	ENST00000377551.1:c.3192C>A	11.37:g.64416297G>T						AP001092.4_ENST00000433606.1_RNA|NRXN2_ENST00000409571.1_Silent_p.G1057G|NRXN2_ENST00000377551.1_Silent_p.G1064G|NRXN2_ENST00000377559.3_Silent_p.G1024G	p.G1064G	NM_015080.3	NP_055895.1	Q9P2S2	NRX2A_HUMAN			16	3653	-			1064			Laminin G-like 5.		A7E2C1|Q9Y2D6	Silent	SNP	ENST00000377551.1	37	c.3192C>A	CCDS8077.1																																																																																				0.617	NRXN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000104967.3	NM_015080		8	118	1	0	7.48243e-07	1	8.1505e-07	8	118					T	64416297	G	T	64416297	2	4	245	1	0	0	0	0	0	0	0	1	10666	958	34	5		5	NRXN2	11	64416297	Silent	SNP	G	TCGA-HC-A6AO-01A-11D-A30E-08	20346534	64416297	70590219	25	11530											
OR4D5	219875	broad.mit.edu	37	chr11	123811140	123811140	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatggacaaggccgtctctGtgctatacacaattgtcacc	10	10	8	13	1	2	0	1	0	1	0	3	1	2	1	3	2	2	1	3	2	4	3			TCGA-HC-A6AO-01A-11D-A30E-08	TCGA-HC-A6AO-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78928ca5-e8a3-4c7c-a8ca-a0e5801870f9	300a9b2e-8abd-4a19-a4fc-b5e4b266e1df	g.chr11:123811140G>A	ENST00000307033.2	+	1	891	c.817G>A	c.(817-819)Gtg>Atg	p.V273M		NM_001001965.1	NP_001001965.1	Q8NGN0	OR4D5_HUMAN	olfactory receptor, family 4, subfamily D, member 5	273						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		GGCCGTCTCTGTGCTATACAC	0.483																																						ENST00000307033.2																			0				autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						c.(817-819)Gtg>Atg		olfactory receptor, family 4, subfamily D, member 5							154	128	136					11																	123811140		2202	4299	6501	SO:0001583	missense	219875				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:123811140G>A	BK004316	CCDS31699.1	11q24.1	2012-08-09			ENSG00000171014	ENSG00000171014		"GPCR / Class A : Olfactory receptors"	14852	protein-coding gene	gene with protein product							Standard	NM_001001965		Approved		uc001pzk.1	Q8NGN0	OTTHUMG00000165961	ENST00000307033.2:c.817G>A	11.37:g.123811140G>A	ENSP00000305970:p.Val273Met						p.V273M	NM_001001965.1	NP_001001965.1	Q8NGN0	OR4D5_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)	1	891	+		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	273					B9EGZ4|Q6IFE6	Missense_Mutation	SNP	ENST00000307033.2	37	c.817G>A	CCDS31699.1	.	.	.	.	.	.	.	.	.	.	G	16.60	3.169740	0.57584	.	.	ENSG00000171014	ENST00000307033	T	0.00274	8.35	5.49	4.52	0.55395	GPCR, rhodopsin-like superfamily (1);	0.000000	0.43747	D	0.000540	T	0.00637	0.0021	M	0.74546	2.27	0.32741	N	0.507618	P	0.49559	0.925	D	0.68943	0.961	T	0.56384	-0.7988	10	0.72032	D	0.01	-16.4868	14.0703	0.64856	0.0:0.2756:0.7244:0.0	.	273	Q8NGN0	OR4D5_HUMAN	M	273	ENSP00000305970:V273M	ENSP00000305970:V273M	V	+	1	0	OR4D5	123316350	0.482000	0.25948	1.000000	0.80357	0.842000	0.47809	1.531000	0.36018	2.571000	0.86741	0.650000	0.86243	GTG		0.483	OR4D5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387263.1	NM_001001965		53	85	0	0	0	1	0	53	85					A	123811140	G	A	123811140	3	1	245	1	0	0	0	0	1	0	0	0	11057	1377	48	3	819	3	OR4D5	11	123811140	Missense_Mutation	SNP	G	TCGA-HC-A6AO-01A-11D-A30E-08	59394843	123811140	11195376	26	11531											
GLB1L2	89944	broad.mit.edu	37	chr11	134240925	134240925	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atcaagtctgaaaagcccatCaacatggagaacctgccagt	15	7	8	11	0	3	2	2	1	1	1	3	3	3	2	3	1	4	0	3	1	5	0			TCGA-HC-A6AO-01A-11D-A30E-08	TCGA-HC-A6AO-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78928ca5-e8a3-4c7c-a8ca-a0e5801870f9	300a9b2e-8abd-4a19-a4fc-b5e4b266e1df	g.chr11:134240925C>T	ENST00000535456.2	+	13	1427	c.1239C>T	c.(1237-1239)atC>atT	p.I413I	GLB1L2_ENST00000339772.7_Silent_p.I413I|GLB1L2_ENST00000389881.3_Silent_p.I413I|GLB1L2_ENST00000529077.1_3'UTR	NM_138342.3	NP_612351.2	Q8IW92	GLBL2_HUMAN	galactosidase, beta 1-like 2	413					carbohydrate metabolic process (GO:0005975)	extracellular region (GO:0005576)	beta-galactosidase activity (GO:0004565)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41	all_hematologic(175;0.127)	all_cancers(12;2.85e-18)|all_epithelial(12;1.21e-12)|all_lung(97;0.000276)|Lung NSC(97;0.000518)|Breast(109;0.00122)|Medulloblastoma(222;0.0399)|all_neural(223;0.0412)|Esophageal squamous(93;0.0844)		Epithelial(10;1.37e-11)|all cancers(11;2.2e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000885)|Lung(977;0.223)		AAAAGCCCATCAACATGGAGA	0.572																																						ENST00000535456.2																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						c.(1237-1239)atC>atT		galactosidase, beta 1-like 2							129	129	129					11																	134240925		2201	4297	6498	SO:0001819	synonymous_variant	89944				carbohydrate metabolic process	extracellular region	cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds	g.chr11:134240925C>T		CCDS31724.1	11q25	2008-01-29			ENSG00000149328	ENSG00000149328			25129	protein-coding gene	gene with protein product						12975309	Standard	NM_138342		Approved		uc001qhp.3	Q8IW92	OTTHUMG00000167179	ENST00000535456.2:c.1239C>T	11.37:g.134240925C>T						GLB1L2_ENST00000389881.3_Silent_p.I413I|GLB1L2_ENST00000339772.7_Silent_p.I413I|GLB1L2_ENST00000529077.1_3'UTR	p.I413I	NM_138342.3	NP_612351.2	Q8IW92	GLBL2_HUMAN		Epithelial(10;1.37e-11)|all cancers(11;2.2e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000885)|Lung(977;0.223)	13	1427	+	all_hematologic(175;0.127)	all_cancers(12;2.85e-18)|all_epithelial(12;1.21e-12)|all_lung(97;0.000276)|Lung NSC(97;0.000518)|Breast(109;0.00122)|Medulloblastoma(222;0.0399)|all_neural(223;0.0412)|Esophageal squamous(93;0.0844)	413					A6NCE6|Q6UX60|Q8NC62|Q8NCB3|Q8NCJ1|Q96HP3	Silent	SNP	ENST00000535456.2	37	c.1239C>T	CCDS31724.1	.	.	.	.	.	.	.	.	.	.	C	0.938	-0.710546	0.03230	.	.	ENSG00000149328	ENST00000525089	.	.	.	5.77	2.81	0.32909	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-21.3611	2.3091	0.04182	0.2721:0.4512:0.1319:0.1448	.	.	.	.	X	352	.	.	Q	+	1	0	GLB1L2	133746135	0.750000	0.28316	0.860000	0.33809	0.023000	0.10783	-0.230000	0.09083	0.416000	0.25844	-0.140000	0.14226	CAA		0.572	GLB1L2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393629.2	NM_138342		9	196	0	0	0	1	0	9	196					T	134240925	C	T	134240925	2	4	245	1	0	0	0	0	0	0	0	1	6429	816	29	3		3	GLB1L2	11	134240925	Silent	SNP	C	TCGA-HC-A6AO-01A-11D-A30E-08	10429785	134240925	765591	27	11532											
B4GALNT3	283358	broad.mit.edu	37	chr12	667826	667826	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gccaccccccagtggcctgaGggtgagccctgctcagactg	6	6	13	16	0	1	3	1	2	0	1	1	3	1	3	6	2	2	1	6	2	0	0			TCGA-HC-A6AO-01A-11D-A30E-08	TCGA-HC-A6AO-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78928ca5-e8a3-4c7c-a8ca-a0e5801870f9	300a9b2e-8abd-4a19-a4fc-b5e4b266e1df	g.chr12:667826G>T	ENST00000266383.5	+	18	2773	c.2760G>T	c.(2758-2760)gaG>gaT	p.E920D		NM_173593.3	NP_775864.3	Q6L9W6	B4GN3_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 3	920					metabolic process (GO:0008152)	Golgi cisterna membrane (GO:0032580)|integral component of membrane (GO:0016021)	acetylgalactosaminyltransferase activity (GO:0008376)|N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity (GO:0033842)			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	all_cancers(10;0.0158)|all_epithelial(11;0.0274)|Ovarian(42;0.0512)|all_lung(10;0.154)|Lung NSC(10;0.215)		OV - Ovarian serous cystadenocarcinoma(31;0.00018)|BRCA - Breast invasive adenocarcinoma(9;0.0262)			AGTGGCCTGAGGGTGAGCCCT	0.567																																						ENST00000266383.5																			0				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						c.e18+1		beta-1,4-N-acetyl-galactosaminyl transferase 3							67	58	61					12																	667826		2203	4299	6502	SO:0001630	splice_region_variant	283358					Golgi cisterna membrane|integral to membrane	N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity	g.chr12:667826G>T	AB089940	CCDS8504.1	12p13.33	2013-02-19			ENSG00000139044	ENSG00000139044	2.4.1.-	"Beta 4-glycosyltransferases"	24137	protein-coding gene	gene with protein product		612220				12966086	Standard	NM_173593		Approved	B4GalNac-T3, FLJ16224, FLJ40362	uc001qii.1	Q6L9W6	OTTHUMG00000129283	ENST00000266383.5:c.2761+1G>T	12.37:g.667826G>T							p.E920_splice	NM_173593.3	NP_775864.3	Q6L9W6	B4GN3_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00018)|BRCA - Breast invasive adenocarcinoma(9;0.0262)		18	2773	+	all_cancers(10;0.0158)|all_epithelial(11;0.0274)|Ovarian(42;0.0512)|all_lung(10;0.154)|Lung NSC(10;0.215)		920					Q6ZNC1|Q8N7T6	Splice_Site	SNP	ENST00000266383.5	37	c.2761_splice	CCDS8504.1	.	.	.	.	.	.	.	.	.	.	G	9.783	1.175758	0.21704	.	.	ENSG00000139044	ENST00000266383	T	0.15718	2.4	4.69	1.78	0.24846	.	0.264166	0.42821	D	0.000657	T	0.08268	0.0206	N	0.17474	0.49	0.40068	D	0.975984	B	0.14805	0.011	B	0.24006	0.05	T	0.23976	-1.0173	10	0.11485	T	0.65	-30.0494	6.0156	0.19601	0.2473:0.0:0.5871:0.1655	.	920	Q6L9W6	B4GN3_HUMAN	D	920	ENSP00000266383:E920D	ENSP00000266383:E920D	E	+	3	2	B4GALNT3	538087	0.919000	0.31177	1.000000	0.80357	0.949000	0.60115	-0.050000	0.11904	0.498000	0.27948	0.455000	0.32223	GAG		0.567	B4GALNT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251406.2	NM_173593	Missense_Mutation	4	42	1	0	0.00116845	1	0.00118792	4	42					T	667826	G	T	667826	5	4	245	1	0	0	0	0	0	0	1	0	1268	1014	35	5	2830	5	B4GALNT3	12	667826	Splice_Site	SNP	G	TCGA-HC-A6AO-01A-11D-A30E-08		667826	133184069	28	11533											
DGKA	1606	broad.mit.edu	37	chr12	56335369	56335369	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aaggatggtcctgagataggGtgagcacaggttagggactg	11	8	17	5	0	0	2	0	2	0	1	1	5	1	4	1	5	1	2	1	5	3	2			TCGA-HC-A6AO-01A-11D-A30E-08	TCGA-HC-A6AO-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78928ca5-e8a3-4c7c-a8ca-a0e5801870f9	300a9b2e-8abd-4a19-a4fc-b5e4b266e1df	g.chr12:56335369G>A	ENST00000331886.5	+	15	1704		c.e15+1		DGKA_ENST00000551156.1_Splice_Site|DGKA_ENST00000394147.1_Splice_Site|DGKA_ENST00000549079.2_Splice_Site	NM_001345.4	NP_001336.2	P23743	DGKA_HUMAN	diacylglycerol kinase, alpha 80kDa						blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)	cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|diacylglycerol kinase activity (GO:0004143)|NAD+ kinase activity (GO:0003951)|phospholipid binding (GO:0005543)			breast(1)|endometrium(3)|large_intestine(1)|lung(11)|ovary(4)|pancreas(1)|skin(3)|urinary_tract(1)	25					Vitamin E(DB00163)	CTGAGATAGGGTGAGCACAGG	0.473																																						ENST00000331886.5																			0				breast(1)|endometrium(3)|large_intestine(1)|lung(11)|ovary(4)|pancreas(1)|skin(3)|urinary_tract(1)	25						c.e15+1		diacylglycerol kinase, alpha 80kDa	Vitamin E(DB00163)						123	125	124					12																	56335369		2203	4300	6503	SO:0001630	splice_region_variant	1606				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity	g.chr12:56335369G>A	AF064767	CCDS8896.1	12q13.3	2013-01-10	2002-08-29			ENSG00000065357	2.7.1.107	"EF-hand domain containing"	2849	protein-coding gene	gene with protein product		125855	"diacylglycerol kinase, alpha (80kD)"	DAGK, DAGK1		8180475, 7959783	Standard	NM_001345		Approved	DGK-alpha	uc001sim.3	P23743		ENST00000331886.5:c.1250+1G>A	12.37:g.56335369G>A						DGKA_ENST00000394147.1_Splice_Site|DGKA_ENST00000549079.2_Splice_Site|DGKA_ENST00000551156.1_Splice_Site		NM_001345.4	NP_001336.2	P23743	DGKA_HUMAN			15	1704	+								O75481|O75482|O75483|O95217|Q3ZE25|Q8IZ56|Q8N5Q2	Splice_Site	SNP	ENST00000331886.5	37		CCDS8896.1	.	.	.	.	.	.	.	.	.	.	G	19.14	3.770465	0.69992	.	.	ENSG00000065357	ENST00000331886;ENST00000555218;ENST00000394147;ENST00000551156	.	.	.	5.21	5.21	0.72293	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.0786	0.89436	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	DGKA	54621636	1.000000	0.71417	1.000000	0.80357	0.765000	0.43378	8.346000	0.90060	2.890000	0.99128	0.650000	0.86243	.		0.473	DGKA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407291.1		Intron	33	61	0	0	0	1	0	33	61					A	56335369	G	A	56335369	5	1	245	1	0	0	0	0	0	0	1	0	4465	1275	44	3	1305	3	DGKA	12	56335369	Splice_Site	SNP	G	TCGA-HC-A6AO-01A-11D-A30E-08	55667543	56335369	77516526	29	11534											
OASL	8638	broad.mit.edu	37	chr12	121471396	121471396	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gagcccgaggtccagcaggtCctggctttgccacatggttt	6	10	13	12	1	0	0	0	0	0	0	2	2	2	0	4	4	3	3	4	4	0	2			TCGA-HC-A6AO-01A-11D-A30E-08	TCGA-HC-A6AO-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78928ca5-e8a3-4c7c-a8ca-a0e5801870f9	300a9b2e-8abd-4a19-a4fc-b5e4b266e1df	g.chr12:121471396C>T	ENST00000257570.5	-	2	619	c.349G>A	c.(349-351)Gac>Aac	p.D117N	OASL_ENST00000339275.5_Missense_Mutation_p.D117N	NM_003733.3	NP_003724.1	Q15646	OASL_HUMAN	2'-5'-oligoadenylate synthetase-like	117					cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of viral genome replication (GO:0045071)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleolus (GO:0005730)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)|thyroid hormone receptor binding (GO:0046966)|transferase activity (GO:0016740)			NS(1)|endometrium(3)|large_intestine(4)|lung(4)|skin(2)	14	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					TCCAGCAGGTCCTGGCTTTGC	0.582																																					Colon(192;517 2041 31392 31913 39966)	ENST00000257570.5																			0				NS(1)|endometrium(3)|large_intestine(4)|lung(4)|skin(2)	14						c.(349-351)Gac>Aac		2'-5'-oligoadenylate synthetase-like							120	107	112					12																	121471396		2203	4300	6503	SO:0001583	missense	8638				interferon-gamma-mediated signaling pathway|type I interferon-mediated signaling pathway	cytoplasm|nucleolus	ATP binding|DNA binding|double-stranded RNA binding|thyroid hormone receptor binding|transferase activity	g.chr12:121471396C>T	AF063611	CCDS9211.1, CCDS9212.1, CCDS73536.1	12q24.2	2008-08-05			ENSG00000135114	ENSG00000135114			8090	protein-coding gene	gene with protein product		603281				10087211	Standard	NM_003733		Approved	TRIP14, p59OASL	uc001tzj.2	Q15646	OTTHUMG00000154981	ENST00000257570.5:c.349G>A	12.37:g.121471396C>T	ENSP00000257570:p.Asp117Asn					OASL_ENST00000339275.5_Missense_Mutation_p.D117N	p.D117N	NM_003733.3	NP_003724.1	Q15646	OASL_HUMAN			2	619	-	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)		117					B2RAZ2|I1YDD2|O75686|Q17R95|Q9Y6K6|Q9Y6K7	Missense_Mutation	SNP	ENST00000257570.5	37	c.349G>A	CCDS9211.1	.	.	.	.	.	.	.	.	.	.	c	10.04	1.242498	0.22796	.	.	ENSG00000135114	ENST00000257570;ENST00000339275	T;T	0.07327	3.2;3.2	4.66	2.83	0.33086	.	3.887370	0.00616	N	0.000425	T	0.10252	0.0251	L	0.47716	1.5	0.09310	N	1	B;B	0.28082	0.2;0.03	B;B	0.20577	0.03;0.02	T	0.25537	-1.0129	10	0.49607	T	0.09	-14.1758	6.7491	0.23477	0.0:0.7932:0.0:0.2068	.	117;117	Q15646-2;Q15646	.;OASL_HUMAN	N	117	ENSP00000257570:D117N;ENSP00000341125:D117N	ENSP00000257570:D117N	D	-	1	0	OASL	119955779	0.012000	0.17670	0.530000	0.27963	0.041000	0.13682	0.043000	0.13971	1.326000	0.45319	-0.226000	0.12346	GAC		0.582	OASL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337875.2	NM_003733		7	124	0	0	0	1	0	7	124					T	121471396	C	T	121471396	3	4	245	1	0	0	0	0	1	0	0	0	10802	855	30	3	1215	3	OASL	12	121471396	Missense_Mutation	SNP	C	TCGA-HC-A6AO-01A-11D-A30E-08	65136027	121471396	12380499	30	11535											
WDR66	144406	broad.mit.edu	37	chr12	122441613	122441613	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gaaatcactgcagaaatattCgcgactgaaattcttggctt	13	12	8	8	2	2	2	1	1	1	1	3	4	2	2	0	1	1	2	0	1	4	5	rs202063312		TCGA-HC-A6AO-01A-11D-A30E-08	TCGA-HC-A6AO-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78928ca5-e8a3-4c7c-a8ca-a0e5801870f9	300a9b2e-8abd-4a19-a4fc-b5e4b266e1df	g.chr12:122441613C>T	ENST00000288912.4	+	22	4247	c.3393C>T	c.(3391-3393)ttC>ttT	p.F1131F		NM_144668.5	NP_653269.3	Q8TBY9	WDR66_HUMAN	WD repeat domain 66	1131							calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(13)|ovary(2)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	all_neural(191;0.0496)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000155)|Epithelial(86;0.000634)|BRCA - Breast invasive adenocarcinoma(302;0.248)		CAGAAATATTCGCGACTGAAA	0.408																																					Esophageal Squamous(85;849 1794 49757 52143)	ENST00000288912.4																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(13)|ovary(2)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						c.(3391-3393)ttC>ttT		WD repeat domain 66							122	112	115					12																	122441613		1863	4105	5968	SO:0001819	synonymous_variant	144406						calcium ion binding	g.chr12:122441613C>T	AL833930	CCDS41853.1, CCDS53840.1	12q24.31	2014-07-31			ENSG00000158023	ENSG00000158023		"WD repeat domain containing"	28506	protein-coding gene	gene with protein product						17967944	Standard	NM_001178003		Approved	MGC33630, CaM-IP4	uc009zxk.3	Q8TBY9	OTTHUMG00000168948	ENST00000288912.4:c.3393C>T	12.37:g.122441613C>T							p.F1131F	NM_144668.5	NP_653269.3	Q8TBY9	WDR66_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000155)|Epithelial(86;0.000634)|BRCA - Breast invasive adenocarcinoma(302;0.248)	22	4247	+	all_neural(191;0.0496)|Medulloblastoma(191;0.0922)		1131					C9J1W2|Q8IYA3|Q8N898|Q8NDE7	Silent	SNP	ENST00000288912.4	37	c.3393C>T	CCDS41853.1																																																																																				0.408	WDR66-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401700.1	NM_144668		19	31	0	0	0	1	0	19	31					T	122441613	C	T	122441613	2	4	245	1	0	0	0	0	0	0	0	1	17314	883	31	2		2	WDR66	12	122441613	Silent	SNP	C	TCGA-HC-A6AO-01A-11D-A30E-08	970217	122441613	11410282	31	11536											
ABCC4	10257	broad.mit.edu	37	chr13	95899954	95899954	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggcagcactgaatacataTcatcttcctctaatctccgt	10	13	5	13	1	4	1	1	1	3	0	6	1	5	1	2	1	2	2	2	1	4	4			TCGA-HC-A6AO-01A-11D-A30E-08	TCGA-HC-A6AO-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78928ca5-e8a3-4c7c-a8ca-a0e5801870f9	300a9b2e-8abd-4a19-a4fc-b5e4b266e1df	g.chr13:95899954T>G	ENST00000376887.4	-	2	242	c.128A>C	c.(127-129)gAt>gCt	p.D43A	ABCC4_ENST00000412704.1_Missense_Mutation_p.D43A|ABCC4_ENST00000536256.1_Missense_Mutation_p.D43A|ABCC4_ENST00000431522.1_Missense_Mutation_p.D43A|ABCC4_ENST00000538287.1_3'UTR	NM_005845.3	NP_005836.2	O15439	MRP4_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 4	43					blood coagulation (GO:0007596)|oxidation-reduction process (GO:0055114)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of smooth muscle cell proliferation (GO:0048661)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|response to organonitrogen compound (GO:0010243)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet dense granule membrane (GO:0031088)	15-hydroxyprostaglandin dehydrogenase (NAD+) activity (GO:0016404)|ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43	all_neural(89;0.0878)|Medulloblastoma(90;0.163)				Adefovir Dipivoxil(DB00718)|Alprostadil(DB00770)|Atorvastatin(DB01076)|Cefazolin(DB01327)|Celecoxib(DB00482)|Conjugated Estrogens(DB00286)|Diclofenac(DB00586)|Dinoprostone(DB00917)|Dipyridamole(DB00975)|Fluorouracil(DB00544)|Flurbiprofen(DB00712)|Folic Acid(DB00158)|Gadoxetate(DB08884)|Glutathione(DB00143)|Ibuprofen(DB01050)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Lamivudine(DB00709)|Leucovorin(DB00650)|Meloxicam(DB00814)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|Nateglinide(DB00731)|Oseltamivir(DB00198)|Probenecid(DB01032)|Rosuvastatin(DB01098)|Sildenafil(DB00203)|Sorafenib(DB00398)|Sulfinpyrazone(DB01138)|Sunitinib(DB01268)|Tenofovir(DB00300)|Tioguanine(DB00352)|Ursodeoxycholic acid(DB01586)|Verapamil(DB00661)|Zidovudine(DB00495)	TGAATACATATCATCTTCCTC	0.458																																						ENST00000376887.4																			0				breast(1)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43						c.(127-129)gAt>gCt		ATP-binding cassette, sub-family C (CFTR/MRP), member 4	Cefazolin(DB01327)						180	147	158					13																	95899954		2203	4300	6503	SO:0001583	missense	10257				platelet activation|platelet degranulation	integral to membrane|membrane fraction|plasma membrane|platelet dense granule membrane	15-hydroxyprostaglandin dehydrogenase (NAD+) activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|chloride channel activity	g.chr13:95899954T>G	U66682	CCDS9474.1	13q31	2012-03-14			ENSG00000125257	ENSG00000125257		"ATP binding cassette transporters / subfamily C"	55	protein-coding gene	gene with protein product	"canalicular multispecific organic anion transporter (ABC superfamily)", "bA464I2.1 (ATP-binding cassette, sub-family C (CFTR/MRP), member 4)", "multidrug resistance-associated protein 4", "multispecific organic anion transporter B"	605250				8894702, 9661885	Standard	NM_005845		Approved	MRP4, EST170205, MOAT-B, MOATB	uc001vmd.4	O15439	OTTHUMG00000017216	ENST00000376887.4:c.128A>C	13.37:g.95899954T>G	ENSP00000366084:p.Asp43Ala					ABCC4_ENST00000538287.1_3'UTR|ABCC4_ENST00000536256.1_Missense_Mutation_p.D43A|ABCC4_ENST00000431522.1_Missense_Mutation_p.D43A|ABCC4_ENST00000412704.1_Missense_Mutation_p.D43A	p.D43A	NM_005845.3	NP_005836.2	O15439	MRP4_HUMAN			2	242	-	all_neural(89;0.0878)|Medulloblastoma(90;0.163)		43					A9Z1Z7|Q8IVZ4|Q8IZN6|Q8NEW8|Q9Y6J2	Missense_Mutation	SNP	ENST00000376887.4	37	c.128A>C	CCDS9474.1	.	.	.	.	.	.	.	.	.	.	T	26.4	4.733759	0.89482	.	.	ENSG00000125257	ENST00000412704;ENST00000376887;ENST00000536256;ENST00000431522	D;D;D;D	0.91945	-2.94;-2.94;-2.94;-2.94	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	D	0.97396	0.9148	H	0.96365	3.81	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.999;1.0;0.999;0.999	D;D;D;D;D	0.83275	0.996;0.988;0.991;0.988;0.979	D	0.98655	1.0681	10	0.87932	D	0	.	15.5531	0.76170	0.0:0.0:0.0:1.0	.	43;43;43;43;43	B7Z3Q7;A8K2Q2;O15439-2;Q8IVZ4;O15439	.;.;.;.;MRP4_HUMAN	A	43	ENSP00000388657:D43A;ENSP00000366084:D43A;ENSP00000442024:D43A;ENSP00000398562:D43A	ENSP00000366084:D43A	D	-	2	0	ABCC4	94697955	1.000000	0.71417	0.998000	0.56505	0.949000	0.60115	7.224000	0.78042	2.140000	0.66376	0.455000	0.32223	GAT		0.458	ABCC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045478.2	NM_005845		21	47	0	0	0	1	0	21	47					G	95899954	T	G	95899954	3	3	245	1	0	0	0	0	1	0	0	0	55	1435	50	5	4018	5	ABCC4	13	95899954	Missense_Mutation	SNP	T	TCGA-HC-A6AO-01A-11D-A30E-08		95899954	19269924	32	11537											
FOXA1	3169	broad.mit.edu	37	chr14	38061192	38061192	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccggctgcttctcgcacttgAagcgcttctggcggcgcaag	5	9	13	14	5	2	1	0	1	2	0	3	1	2	1	1	3	2	5	1	3	2	3			TCGA-HC-A6AO-01A-11D-A30E-08	TCGA-HC-A6AO-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78928ca5-e8a3-4c7c-a8ca-a0e5801870f9	300a9b2e-8abd-4a19-a4fc-b5e4b266e1df	g.chr14:38061192A>G	ENST00000250448.2	-	2	858	c.797T>C	c.(796-798)tTc>tCc	p.F266S	FOXA1_ENST00000545425.2_5'UTR|FOXA1_ENST00000540786.1_Missense_Mutation_p.F233S	NM_004496.3	NP_004487.2	P55317	FOXA1_HUMAN	forkhead box A1	266					anatomical structure formation involved in morphogenesis (GO:0048646)|chromatin remodeling (GO:0006338)|dorsal/ventral neural tube patterning (GO:0021904)|epithelial cell maturation involved in prostate gland development (GO:0060743)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|epithelial-mesenchymal signaling involved in prostate gland development (GO:0060738)|glucose homeostasis (GO:0042593)|hormone metabolic process (GO:0042445)|lung epithelial cell differentiation (GO:0060487)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron fate specification (GO:0048665)|positive regulation of cell-cell adhesion mediated by cadherin (GO:2000049)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prostate gland epithelium morphogenesis (GO:0060740)|prostate gland stromal morphogenesis (GO:0060741)|response to estradiol (GO:0032355)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)	microvillus (GO:0005902)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|endometrium(1)|large_intestine(2)|lung(3)|prostate(12)	19	Breast(36;0.0954)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		Lung(238;5.41e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0454)|LUSC - Lung squamous cell carcinoma(13;0.0917)|all cancers(34;0.0925)|BRCA - Breast invasive adenocarcinoma(188;0.239)	GBM - Glioblastoma multiforme(112;0.0222)		CTCGCACTTGAAGCGCTTCTG	0.726																																						ENST00000250448.2																			0				breast(1)|endometrium(1)|large_intestine(2)|lung(3)|prostate(12)	19						c.(796-798)tTc>tCc		forkhead box A1							10	11	10					14																	38061192		2193	4281	6474	SO:0001583	missense	3169				chromatin remodeling|embryo development|epithelial cell maturation involved in prostate gland development|epithelial tube branching involved in lung morphogenesis|epithelial-mesenchymal signaling involved in prostate gland development|glucose homeostasis|lung epithelial cell differentiation|negative regulation of survival gene product expression|neuron fate specification|pattern specification process|positive regulation of estrogen receptor signaling pathway|positive regulation of mitotic cell cycle|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|prostate gland epithelium morphogenesis|prostate gland stromal morphogenesis|response to estradiol stimulus|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development	transcription factor complex	DNA bending activity|double-stranded DNA binding|protein domain specific binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding	g.chr14:38061192A>G	U39840	CCDS9665.1	14q12-q13	2008-04-10		2002-09-20	ENSG00000129514	ENSG00000129514		"Forkhead boxes"	5021	protein-coding gene	gene with protein product		602294	"hepatocyte nuclear factor 3, alpha"	HNF3A		9119385, 8652662	Standard	NM_004496		Approved		uc001wuf.4	P55317	OTTHUMG00000140253	ENST00000250448.2:c.797T>C	14.37:g.38061192A>G	ENSP00000250448:p.Phe266Ser					FOXA1_ENST00000540786.1_Missense_Mutation_p.F233S|FOXA1_ENST00000545425.2_5'UTR	p.F266S	NM_004496.3	NP_004487.2	P55317	FOXA1_HUMAN	Lung(238;5.41e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0454)|LUSC - Lung squamous cell carcinoma(13;0.0917)|all cancers(34;0.0925)|BRCA - Breast invasive adenocarcinoma(188;0.239)	GBM - Glioblastoma multiforme(112;0.0222)	2	858	-	Breast(36;0.0954)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		266					B2R9H6|B7ZAP5|Q9H2A0	Missense_Mutation	SNP	ENST00000250448.2	37	c.797T>C	CCDS9665.1	.	.	.	.	.	.	.	.	.	.	A	23.9	4.475185	0.84640	.	.	ENSG00000129514	ENST00000250448;ENST00000540786	D;D	0.93604	-3.24;-3.25	3.92	3.92	0.45320	.	0.000000	0.85682	D	0.000000	D	0.93588	0.7953	L	0.29908	0.895	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.93831	0.7128	10	0.66056	D	0.02	.	11.8486	0.52399	1.0:0.0:0.0:0.0	.	266	P55317	FOXA1_HUMAN	S	266;233	ENSP00000250448:F266S;ENSP00000440178:F233S	ENSP00000250448:F266S	F	-	2	0	FOXA1	37130943	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	8.885000	0.92439	1.648000	0.50643	0.329000	0.21502	TTC		0.726	FOXA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276735.1			5	21	0	0	0	1	0	5	21					G	38061192	A	G	38061192	3	3	245	1	0	0	0	0	1	0	0	0	5989	246	9	4	625	4	FOXA1	14	38061192	Missense_Mutation	SNP	A	TCGA-HC-A6AO-01A-11D-A30E-08		38061192	69288348	33	11538											
KIAA0586	9786	broad.mit.edu	37	chr14	58917402	58917402	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acctgtttcaagggatgatgAactatcaaagagggaaaatc	16	9	10	6	0	2	3	2	2	0	1	3	5	2	5	1	2	1	1	1	2	6	2			TCGA-HC-A6AO-01A-11D-A30E-08	TCGA-HC-A6AO-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78928ca5-e8a3-4c7c-a8ca-a0e5801870f9	300a9b2e-8abd-4a19-a4fc-b5e4b266e1df	g.chr14:58917402A>G	ENST00000556134.1	+	9	1296	c.1022A>G	c.(1021-1023)gAa>gGa	p.E341G	KIAA0586_ENST00000261244.5_Missense_Mutation_p.E356G|KIAA0586_ENST00000538571.2_3'UTR|KIAA0586_ENST00000354386.6_Missense_Mutation_p.E409G|KIAA0586_ENST00000423743.3_Missense_Mutation_p.E312G	NM_001244190.1|NM_001244193.1	NP_001231119.1|NP_001231122.1	Q9BVV6	TALD3_HUMAN	KIAA0586	341					cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|regulation of establishment of protein localization (GO:0070201)|smoothened signaling pathway (GO:0007224)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)				endometrium(4)|kidney(6)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						AGGGATGATGAACTATCAAAG	0.378																																						ENST00000423743.3																			0				endometrium(4)|kidney(6)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						c.(934-936)gAa>gGa		KIAA0586							44	45	45					14																	58917402		1817	4093	5910	SO:0001583	missense	9786							g.chr14:58917402A>G	AB011158	CCDS45115.1, CCDS58320.1, CCDS58321.1, CCDS58322.1, CCDS73639.1	14q23.1	2012-12-06			ENSG00000100578	ENSG00000100578			19960	protein-coding gene	gene with protein product		610178				16702409	Standard	NM_014749		Approved	Talpid3	uc010trr.2	Q9BVV6	OTTHUMG00000171141	ENST00000556134.1:c.1022A>G	14.37:g.58917402A>G	ENSP00000452351:p.Glu341Gly					KIAA0586_ENST00000354386.6_Missense_Mutation_p.E409G|KIAA0586_ENST00000556134.1_Missense_Mutation_p.E341G|KIAA0586_ENST00000538571.2_3'UTR|KIAA0586_ENST00000261244.5_Missense_Mutation_p.E356G	p.E312G	NM_001244191.1|NM_001244192.1	NP_001231120.1|NP_001231121.1	E9PGW8	E9PGW8_HUMAN			9	1193	+			356					B4DZB6|E7EWM8|J3KQH9|O60328|Q6NYC6|Q6UV20	Missense_Mutation	SNP	ENST00000556134.1	37	c.935A>G	CCDS58321.1	.	.	.	.	.	.	.	.	.	.	A	10.31	1.316031	0.23908	.	.	ENSG00000100578	ENST00000354386;ENST00000556134;ENST00000423743;ENST00000261244;ENST00000546216	T;T;T;T	0.46451	0.87;0.87;0.87;0.87	5.66	4.53	0.55603	.	0.587264	0.17319	N	0.178588	T	0.25754	0.0627	N	0.14661	0.345	0.09310	N	1	B;B;B;B;B;B	0.33549	0.002;0.002;0.004;0.417;0.002;0.004	B;B;B;B;B;B	0.30495	0.004;0.004;0.006;0.116;0.004;0.004	T	0.18650	-1.0330	10	0.59425	D	0.04	.	10.7992	0.46478	0.9252:0.0:0.0747:0.0	.	216;216;409;356;341;312	F5GWA3;B7Z7W7;E7EWM8;E9PGW8;Q9BVV6;Q6UV20	.;.;.;.;K0586_HUMAN;.	G	409;341;312;356;216	ENSP00000346359:E409G;ENSP00000452351:E341G;ENSP00000399427:E312G;ENSP00000261244:E356G	ENSP00000261244:E356G	E	+	2	0	KIAA0586	57987155	0.998000	0.40836	0.016000	0.15963	0.274000	0.26718	3.594000	0.54008	2.148000	0.66965	0.460000	0.39030	GAA		0.378	KIAA0586-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000411887.1	NM_014749		4	17	0	0	0	1	0	4	17					G	58917402	A	G	58917402	3	3	245	1	0	0	0	0	1	0	0	0	8186	246	9	4	1097	4	KIAA0586	14	58917402	Missense_Mutation	SNP	A	TCGA-HC-A6AO-01A-11D-A30E-08	20856210	58917402	48432138	34	11539											
UNC13C	440279	broad.mit.edu	37	chr15	54799323	54799323	+	Frame_Shift_Del	DEL	T	T	-																															tttctttcttagactatcaaTaaagtgctgctccagtatgc																										TCGA-HC-A6AO-01A-11D-A30E-08	TCGA-HC-A6AO-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78928ca5-e8a3-4c7c-a8ca-a0e5801870f9	300a9b2e-8abd-4a19-a4fc-b5e4b266e1df	g.chr15:54799323delT	ENST00000260323.11	+	22	5310	c.5310delT	c.(5308-5310)aatfs	p.N1770fs	UNC13C_ENST00000537900.1_Frame_Shift_Del_p.N1768fs|UNC13C_ENST00000545554.1_Frame_Shift_Del_p.N1770fs	NM_001080534.1	NP_001074003.1	Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	1770	MHD1. {ECO:0000255|PROSITE- ProRule:PRU00587}.				exocytosis (GO:0006887)|intracellular signal transduction (GO:0035556)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		AGACTATCAATAAAGTGCTGC	0.318																																						ENST00000545554.1																			0				breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121						c.(5308-5310)aafs		unc-13 homolog C (C. elegans)							88	83	85					15																	54799323		1840	4091	5931	SO:0001589	frameshift_variant	440279				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding	g.chr15:54799323delT	AK091491	CCDS45264.1	15q21.3	2012-10-02			ENSG00000137766	ENSG00000137766			23149	protein-coding gene	gene with protein product		614568					Standard	NM_001080534		Approved	Munc13-3, DKFZp547H074	uc021smr.1	Q8NB66	OTTHUMG00000172542	ENST00000260323.11:c.5310delT	15.37:g.54799323delT	ENSP00000260323:p.Asn1770fs					UNC13C_ENST00000537900.1_Frame_Shift_Del_p.N1768fs|UNC13C_ENST00000260323.11_Frame_Shift_Del_p.N1770fs	p.N1770fs			Q8NB66	UN13C_HUMAN		GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)	22	5310	+			1770			MHD1.		Q0P613|Q8ND48|Q96NP3	Frame_Shift_Del	DEL	ENST00000260323.11	37	c.5310delT	CCDS45264.1																																																																																				0.318	UNC13C-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000419028.3	NM_173166		2	4						2	4	---	---	---	---	-	54799323	T	-	54799323	7	5	245	1	0	1	0	1	0	0	0	0	16983	1403	49	0	5392	0	UNC13C	15	54799323	Frame_Shift_Del	DEL	T	TCGA-HC-A6AO-01A-11D-A30E-08		54799323	47732069	35	11540											
RORA	6095	broad.mit.edu	37	chr15	60919520	60919520	+	Intron	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caatgacccatgattgaccaCggcactcttgcctcagtctc	9	10	7	15	1	3	3	1	3	2	0	4	3	3	3	3	1	1	1	3	1	1	2	rs199986254		TCGA-HC-A6AO-01A-11D-A30E-08	TCGA-HC-A6AO-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78928ca5-e8a3-4c7c-a8ca-a0e5801870f9	300a9b2e-8abd-4a19-a4fc-b5e4b266e1df	g.chr15:60919520C>T	ENST00000335670.6	-	2	297				RORA_ENST00000560004.1_Intron|RORA_ENST00000309157.4_Silent_p.P18P|RORA_ENST00000261523.5_Silent_p.P18P|RP11-219B17.1_ENST00000559824.1_RNA|RP11-219B17.1_ENST00000558235.1_RNA	NM_134261.2	NP_599023.1	P35398	RORA_HUMAN	RAR-related orphan receptor A						angiogenesis (GO:0001525)|cellular response to hypoxia (GO:0071456)|cellular response to sterol (GO:0036315)|cerebellar granule cell precursor proliferation (GO:0021930)|cerebellar Purkinje cell differentiation (GO:0021702)|cGMP metabolic process (GO:0046068)|circadian regulation of gene expression (GO:0032922)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|muscle cell differentiation (GO:0042692)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of inflammatory response (GO:0050728)|nitric oxide biosynthetic process (GO:0006809)|positive regulation of circadian rhythm (GO:0042753)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of cholesterol homeostasis (GO:2000188)|regulation of glucose metabolic process (GO:0010906)|regulation of macrophage activation (GO:0043030)|regulation of smoothened signaling pathway (GO:0008589)|regulation of steroid metabolic process (GO:0019218)|regulation of transcription involved in cell fate commitment (GO:0060850)|regulation of transcription, DNA-templated (GO:0006355)|T-helper 17 cell differentiation (GO:0072539)|transcription initiation from RNA polymerase II promoter (GO:0006367)|triglyceride homeostasis (GO:0070328)|xenobiotic metabolic process (GO:0006805)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	direct ligand regulated sequence-specific DNA binding transcription factor activity (GO:0098531)|DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|oxysterol binding (GO:0008142)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription coactivator binding (GO:0001223)|transcription corepressor binding (GO:0001222)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	21						TGATTGACCACGGCACTCTTG	0.552																																						ENST00000261523.5																			0				endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	21						c.(52-54)ccG>ccA		RAR-related orphan receptor A							221	177	192					15																	60919520		2203	4300	6503	SO:0001627	intron_variant	6095				positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	g.chr15:60919520C>T	U04897	CCDS10177.1, CCDS10178.1, CCDS10179.1, CCDS45271.1	15q21-q22	2013-01-16			ENSG00000069667	ENSG00000069667		"Nuclear hormone receptors"	10258	protein-coding gene	gene with protein product		600825				7926749	Standard	NM_134261		Approved	RZRA, ROR1, ROR2, ROR3, NR1F1	uc002agv.3	P35398	OTTHUMG00000132769	ENST00000335670.6:c.196+51335G>A	15.37:g.60919520C>T						RORA_ENST00000560004.1_Intron|RORA_ENST00000335670.6_Intron|RORA_ENST00000309157.4_Silent_p.P18P|RP11-219B17.1_ENST00000559824.1_RNA|RP11-219B17.1_ENST00000558235.1_RNA	p.P18P	NM_134260.2	NP_599022.1	P35398	RORA_HUMAN			1	142	-			18		P -> S (in a colorectal cancer sample; somatic mutation).	Modulating.		P35397|P35399|P45445|Q495X4|Q96H83	Silent	SNP	ENST00000335670.6	37	c.54G>A	CCDS10177.1																																																																																				0.552	RORA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256142.2			41	68	0	0	0	1	0	41	68					T	60919520	C	T	60919520	1	4	245	0	1	0	0	0	0	0	0	0	13528	523	19	1		1	RORA	15	60919520	Intron	SNP	C	TCGA-HC-A6AO-01A-11D-A30E-08	6120197	60919520	41611872	36	11541											
MESP2	145873	broad.mit.edu	37	chr15	90320476	90320476	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccaccagtgccctggacggcGgccccagcaactttggagct	7	6	12	16	2	0	0	0	0	0	0	0	2	0	2	5	4	4	2	5	4	1	1	rs374172103		TCGA-HC-A6AO-01A-11D-A30E-08	TCGA-HC-A6AO-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78928ca5-e8a3-4c7c-a8ca-a0e5801870f9	300a9b2e-8abd-4a19-a4fc-b5e4b266e1df	g.chr15:90320476G>A	ENST00000341735.3	+	1	888	c.888G>A	c.(886-888)gcG>gcA	p.A296A	MESP2_ENST00000560219.1_Intron|MESP2_ENST00000558723.1_Intron	NM_001039958.1	NP_001035047.1	Q0VG99	MESP2_HUMAN	mesoderm posterior basic helix-loop-helix transcription factor 2	296					mesodermal cell migration (GO:0008078)|Notch signaling pathway (GO:0007219)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|signal transduction involved in regulation of gene expression (GO:0023019)|somite rostral/caudal axis specification (GO:0032525)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			kidney(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6	Lung NSC(78;0.0221)|all_lung(78;0.0448)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)			CCTGGACGGCGGCCCCAGCAA	0.627																																						ENST00000341735.3																			0				kidney(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6						c.(886-888)gcG>gcA		mesoderm posterior 2 homolog (mouse)		G		0,3718		0,0,1859	11	13	12		888	-4.4	0	15		12	1,8103		0,1,4051	no	coding-synonymous	MESP2	NM_001039958.1		0,1,5910	AA,AG,GG		0.0123,0.0,0.0085		296/398	90320476	1,11821	1859	4052	5911	SO:0001819	synonymous_variant	145873				Notch signaling pathway	nucleus	DNA binding	g.chr15:90320476G>A		CCDS42078.1	15q26.1	2014-06-30	2014-06-30			ENSG00000188095		"Basic helix-loop-helix proteins"	29659	protein-coding gene	gene with protein product		605195	"mesoderm posterior 2 homolog (mouse)"			11578861	Standard	NM_001039958		Approved	SCDO2, bHLHc6	uc002bon.3	Q0VG99		ENST00000341735.3:c.888G>A	15.37:g.90320476G>A						MESP2_ENST00000558723.1_Intron|MESP2_ENST00000560219.1_Intron	p.A296A	NM_001039958.1	NP_001035047.1	Q0VG99	MESP2_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)		1	888	+	Lung NSC(78;0.0221)|all_lung(78;0.0448)		296					Q7RTU2	Silent	SNP	ENST00000341735.3	37	c.888G>A	CCDS42078.1																																																																																				0.627	MESP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416421.1	XM_085261		4	25	0	0	0	1	0	4	25					A	90320476	G	A	90320476	2	1	245	1	0	0	0	0	0	0	0	1	9483	1103	39	2		2	MESP2	15	90320476	Silent	SNP	G	TCGA-HC-A6AO-01A-11D-A30E-08	29400956	90320476	12210916	37	11542											
LRRK1	79705	broad.mit.edu	37	chr15	101592010	101592010	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggcccagcacacggacccCagtgagaaatcagaggatgt	12	5	13	11	1	1	2	1	1	0	2	1	5	1	4	3	3	1	1	3	3	1	0			TCGA-HC-A6AO-01A-11D-A30E-08	TCGA-HC-A6AO-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78928ca5-e8a3-4c7c-a8ca-a0e5801870f9	300a9b2e-8abd-4a19-a4fc-b5e4b266e1df	g.chr15:101592010C>G	ENST00000388948.3	+	24	3893	c.3534C>G	c.(3532-3534)ccC>ccG	p.P1178P	RP11-505E24.3_ENST00000558979.1_RNA|RP11-505E24.2_ENST00000559857.1_RNA|LRRK1_ENST00000284395.5_Silent_p.P1175P	NM_024652.3	NP_078928.3			leucine-rich repeat kinase 1											breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			ACACGGACCCCAGTGAGAAAT	0.617																																						ENST00000284395.5																			0				breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72						c.(3523-3525)ccC>ccG		leucine-rich repeat kinase 1							64	75	72					15																	101592010		2140	4239	6379	SO:0001819	synonymous_variant	79705				small GTPase mediated signal transduction	mitochondrion	ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr15:101592010C>G	AB058693	CCDS42086.1	15q26.3	2007-01-29			ENSG00000154237	ENSG00000154237			18608	protein-coding gene	gene with protein product		610986				11347906, 14654223	Standard	XM_005254979		Approved	FLJ23119, KIAA1790, Roco1, RIPK6	uc002bwr.3	Q38SD2	OTTHUMG00000165514	ENST00000388948.3:c.3534C>G	15.37:g.101592010C>G						RP11-505E24.2_ENST00000559857.1_RNA|LRRK1_ENST00000388948.3_Silent_p.P1178P	p.P1175P			Q38SD2	LRRK1_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)		25	3925	+	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		1178						Silent	SNP	ENST00000388948.3	37	c.3525C>G	CCDS42086.1																																																																																				0.617	LRRK1-003	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384567.2	NM_024652		4	60	0	0	0	1	0	4	60					G	101592010	C	G	101592010	2	3	245	1	0	0	0	0	0	0	0	1	9032	581	21	5		5	LRRK1	15	101592010	Silent	SNP	C	TCGA-HC-A6AO-01A-11D-A30E-08	11271534	101592010	939382	38	11543											
MYH1	4619	broad.mit.edu	37	chr17	10408221	10408221	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgcctcggtcttagccagcTcttctttggttttctcaaat	5	18	7	11	1	4	0	1	0	4	0	6	0	4	0	2	2	3	2	2	2	2	6			TCGA-HC-A6AO-01A-11D-A30E-08	TCGA-HC-A6AO-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78928ca5-e8a3-4c7c-a8ca-a0e5801870f9	300a9b2e-8abd-4a19-a4fc-b5e4b266e1df	g.chr17:10408221T>A	ENST00000226207.5	-	22	2691	c.2597A>T	c.(2596-2598)gAg>gTg	p.E866V	RP11-799N11.1_ENST00000399342.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|CTC-297N7.11_ENST00000587182.2_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	866					muscle contraction (GO:0006936)	A band (GO:0031672)|cytoplasmic ribonucleoprotein granule (GO:0036464)|intercalated disc (GO:0014704)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						CTTAGCCAGCTCTTCTTTGGT	0.423																																						ENST00000226207.5																			0				NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						c.(2596-2598)gAg>gTg		myosin, heavy chain 1, skeletal muscle, adult							152	138	143					17																	10408221		2203	4300	6503	SO:0001583	missense	4619					muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity	g.chr17:10408221T>A		CCDS11155.1	17p13.1	2013-09-19	2006-09-29		ENSG00000109061	ENSG00000109061		"Myosins / Myosin superfamily : Class II"	7567	protein-coding gene	gene with protein product	"myosin heavy chain IIx/d"	160730	"myosin, heavy polypeptide 1, skeletal muscle, adult"			6304733	Standard	NM_005963		Approved	MYHSA1, MYHa, MyHC-2X/D, MGC133384	uc002gmo.3	P12882	OTTHUMG00000130362	ENST00000226207.5:c.2597A>T	17.37:g.10408221T>A	ENSP00000226207:p.Glu866Val					CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	p.E866V	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN			22	2691	-			866					Q14CA4|Q9Y622	Missense_Mutation	SNP	ENST00000226207.5	37	c.2597A>T	CCDS11155.1	.	.	.	.	.	.	.	.	.	.	T	4.175	0.030950	0.08101	.	.	ENSG00000109061	ENST00000226207	D	0.83837	-1.77	5.48	-11.0	0.00169	.	1.310930	0.05617	U	0.579130	T	0.79003	0.4373	L	0.53249	1.67	0.09310	N	1	B	0.17268	0.021	B	0.23852	0.049	T	0.61983	-0.6950	10	0.40728	T	0.16	.	19.1922	0.93671	0.0:0.0823:0.0756:0.8421	.	866	P12882	MYH1_HUMAN	V	866	ENSP00000226207:E866V	ENSP00000226207:E866V	E	-	2	0	MYH1	10348946	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-4.086000	0.00298	-2.403000	0.00577	-1.140000	0.01884	GAG		0.423	MYH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252725.1	NM_005963		5	111	0	0	0	1	0	5	111					A	10408221	T	A	10408221	3	1	245	1	0	0	0	0	1	0	0	0	10029	1551	54	5	3298	5	MYH1	17	10408221	Missense_Mutation	SNP	T	TCGA-HC-A6AO-01A-11D-A30E-08		10408221	70786989	39	11544											
UNC13D	201294	broad.mit.edu	37	chr17	73836863	73836863	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcgaagcccatgcagatcCgtgagctccccaagcttctg	8	8	10	15	2	1	2	0	1	1	1	3	3	3	2	4	0	5	3	4	0	2	1			TCGA-HC-A6AO-01A-11D-A30E-08	TCGA-HC-A6AO-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78928ca5-e8a3-4c7c-a8ca-a0e5801870f9	300a9b2e-8abd-4a19-a4fc-b5e4b266e1df	g.chr17:73836863C>T	ENST00000207549.4	-	8	1042	c.663G>A	c.(661-663)acG>acA	p.T221T	UNC13D_ENST00000587504.1_5'UTR|UNC13D_ENST00000412096.2_Silent_p.T221T	NM_199242.2	NP_954712.1	Q70J99	UN13D_HUMAN	unc-13 homolog D (C. elegans)	221	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.				defense response to virus (GO:0051607)|germinal center formation (GO:0002467)|granuloma formation (GO:0002432)|natural killer cell degranulation (GO:0043320)|phagocytosis (GO:0006909)|positive regulation of exocytosis (GO:0045921)|regulation of mast cell degranulation (GO:0043304)	endosome (GO:0005768)|exocytic vesicle (GO:0070382)|lysosome (GO:0005764)|membrane (GO:0016020)				central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29			all cancers(21;2.11e-06)|Epithelial(20;2.32e-06)|BRCA - Breast invasive adenocarcinoma(9;0.000618)|LUSC - Lung squamous cell carcinoma(166;0.154)			CATGCAGATCCGTGAGCTCCC	0.592									Familial Hemophagocytic Lymphohistiocytosis																													ENST00000207549.4																			0				central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(661-663)acG>acA		unc-13 homolog D (C. elegans)							143	134	137					17																	73836863		2203	4300	6503	SO:0001819	synonymous_variant	201294	Familial Hemophagocytic Lymphohistiocytosis	Familial Cancer Database	FHLH, FHL, Familial Hemophagocytic Reticulosis, FHR	positive regulation of exocytosis|regulation of mast cell degranulation	exocytic vesicle|late endosome|lysosome|membrane|recycling endosome	protein binding	g.chr17:73836863C>T	AK024474	CCDS11730.1	17q25.3	2014-09-17				ENSG00000092929			23147	protein-coding gene	gene with protein product		608897					Standard	NM_199242		Approved	Munc13-4	uc002jpp.3	Q70J99		ENST00000207549.4:c.663G>A	17.37:g.73836863C>T						UNC13D_ENST00000412096.2_Silent_p.T221T|UNC13D_ENST00000587504.1_5'UTR	p.T221T	NM_199242.2	NP_954712.1	Q70J99	UN13D_HUMAN	all cancers(21;2.11e-06)|Epithelial(20;2.32e-06)|BRCA - Breast invasive adenocarcinoma(9;0.000618)|LUSC - Lung squamous cell carcinoma(166;0.154)		8	1042	-			221			C2 1.		B4DWG9|Q9H7K5	Silent	SNP	ENST00000207549.4	37	c.663G>A	CCDS11730.1																																																																																				0.592	UNC13D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448847.2	XM_113950		45	138	0	0	0	1	0	45	138					T	73836863	C	T	73836863	2	4	245	1	0	0	0	0	0	0	0	1	16984	639	23	2		2	UNC13D	17	73836863	Silent	SNP	C	TCGA-HC-A6AO-01A-11D-A30E-08	63428642	73836863	7358347	40	11545											
GPR108	56927	broad.mit.edu	37	chr19	6734270	6734270	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggtgcttccgggaggagcccGggaaagataaacaacgtctt	11	7	14	9	3	1	1	0	0	1	1	2	4	2	4	2	4	4	1	2	4	4	3			TCGA-HC-A6AO-01A-11D-A30E-08	TCGA-HC-A6AO-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78928ca5-e8a3-4c7c-a8ca-a0e5801870f9	300a9b2e-8abd-4a19-a4fc-b5e4b266e1df	g.chr19:6734270G>A	ENST00000264080.7	-	5	449	c.423C>T	c.(421-423)ccC>ccT	p.P141P	GPR108_ENST00000598626.1_5'Flank|GPR108_ENST00000430424.4_5'UTR	NM_001080452.1	NP_001073921.1	Q9NPR9	GP108_HUMAN	G protein-coupled receptor 108	141						integral component of membrane (GO:0016021)				breast(2)|cervix(1)|large_intestine(4)|lung(4)|skin(1)|urinary_tract(1)	13						GGAGGAGCCCGGGAAAGATAA	0.642											OREG0025092	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000264080.7																			0				breast(2)|cervix(1)|large_intestine(4)|lung(4)|skin(1)|urinary_tract(1)	13						c.(421-423)ccC>ccT		G protein-coupled receptor 108							45	51	49					19																	6734270		1935	4130	6065	SO:0001819	synonymous_variant	56927					integral to membrane		g.chr19:6734270G>A		CCDS42479.1	19p13.3	2014-01-30				ENSG00000125734		"GPCR / Unclassified : 7TM orphan receptors"	17829	protein-coding gene	gene with protein product							Standard	NM_001080452		Approved	LUSTR2	uc002mfp.3	Q9NPR9	OTTHUMG00000170129	ENST00000264080.7:c.423C>T	19.37:g.6734270G>A			OREG0025092	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	636	GPR108_ENST00000430424.4_5'UTR	p.P141P	NM_001080452.1	NP_001073921.1	Q9NPR9	GP108_HUMAN			5	449	-			141					B9EJD7	Silent	SNP	ENST00000264080.7	37	c.423C>T	CCDS42479.1	.	.	.	.	.	.	.	.	.	.	G	3.731	-0.055561	0.07362	.	.	ENSG00000125734	ENST00000549846	.	.	.	3.93	-7.86	0.01187	.	.	.	.	.	T	0.43964	0.1271	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.47761	-0.9092	4	.	.	.	.	5.5768	0.17228	0.1906:0.0:0.5583:0.2511	.	.	.	.	W	124	.	.	R	-	1	2	GPR108	6685270	0.607000	0.26958	0.800000	0.32199	0.205000	0.24178	-0.696000	0.05104	-1.625000	0.01554	-0.258000	0.10820	CGG		0.642	GPR108-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407508.2			16	41	0	0	0	1	0	16	41					A	6734270	G	A	6734270	2	1	245	1	0	0	0	0	0	0	0	1	6624	1103	39	2		2	GPR108	19	6734270	Silent	SNP	G	TCGA-HC-A6AO-01A-11D-A30E-08		6734270	52394713	41	11546											
ZNF99	7652	broad.mit.edu	37	chr19	22939830	22939830	+	IGR	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctaaaagctttgccacatTcttcacatttgtacgatttc	10	16	5	10	1	2	0	1	0	1	0	3	1	2	0	1	0	4	3	1	0	3	7			TCGA-HC-A6AO-01A-11D-A30E-08	TCGA-HC-A6AO-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78928ca5-e8a3-4c7c-a8ca-a0e5801870f9	300a9b2e-8abd-4a19-a4fc-b5e4b266e1df	g.chr19:22939830T>C	ENST00000596209.1	-	0	2686				ZNF99_ENST00000397104.3_Missense_Mutation_p.E834G|CTC-451A6.4_ENST00000442497.2_lincRNA	NM_001080409.2	NP_001073878.2	A8MXY4	ZNF99_HUMAN	zinc finger protein 99						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				TTTGCCACATTCTTCACATTT	0.358																																						ENST00000397104.3																			0				NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124						c.(2500-2502)gAa>gGa		zinc finger protein 99							74	82	79					19																	22939830		2076	4226	6302	SO:0001628	intergenic_variant	7652							g.chr19:22939830T>C	BC021822	CCDS59369.1	19p12	2013-01-08	2006-01-17		ENSG00000213973	ENSG00000213973		"Zinc fingers, C2H2-type", "-"	13175	protein-coding gene	gene with protein product		603981	"zinc finger protein 99 (F8281)", "chromosome 19 open reading frame 9"	C19orf9			Standard	NM_001080409		Approved	MGC24986	uc021urt.1	A8MXY4			19.37:g.22939830T>C							p.E834G							6	2500	-		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)						M0R335	Missense_Mutation	SNP	ENST00000596209.1	37	c.2501A>G	CCDS59369.1	.	.	.	.	.	.	.	.	.	.	t	13.17	2.157564	0.38119	.	.	ENSG00000213973	ENST00000397104	T	0.35789	1.29	1.14	1.14	0.20703	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.45875	0.1364	L	0.43923	1.385	0.21105	N	0.999784	D	0.89917	1.0	D	0.80764	0.994	T	0.20009	-1.0288	9	0.72032	D	0.01	.	5.732	0.18045	0.0:0.0:0.0:1.0	.	834	A8MXY4	ZNF99_HUMAN	G	834	ENSP00000380293:E834G	ENSP00000380293:E834G	E	-	2	0	ZNF99	22731670	0.000000	0.05858	0.472000	0.27241	0.315000	0.28087	-0.251000	0.08818	0.491000	0.27793	0.145000	0.16022	GAA		0.358	ZNF99-001	NOVEL	not_best_in_genome_evidence|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000464591.1	XM_065124		10	55	0	0	0	1	0	10	55					C	22939830	T	C	22939830	1	2	245	0	1	0	0	0	0	0	0	0	18201	1783	62	4		4	ZNF99	19	22939830	IGR	SNP	T	TCGA-HC-A6AO-01A-11D-A30E-08	16205560	22939830	36189153	42	11547											
ZNF536	9745	broad.mit.edu	37	chr19	30935519	30935519	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gagttccgctgcgaggtgtgCggtcaggtgttcagccaggc	5	9	17	10	3	2	0	2	0	0	0	3	2	3	0	2	4	3	3	2	4	0	2			TCGA-HC-A6AO-01A-11D-A30E-08	TCGA-HC-A6AO-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78928ca5-e8a3-4c7c-a8ca-a0e5801870f9	300a9b2e-8abd-4a19-a4fc-b5e4b266e1df	g.chr19:30935519C>T	ENST00000355537.3	+	2	1197	c.1050C>T	c.(1048-1050)tgC>tgT	p.C350C		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	350					negative regulation of neuron differentiation (GO:0045665)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|retinoic acid-responsive element binding (GO:0044323)			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					GCGAGGTGTGCGGTCAGGTGT	0.657																																						ENST00000355537.3																			0				NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182						c.(1048-1050)tgC>tgT		zinc finger protein 536							100	110	107					19																	30935519		2203	4300	6503	SO:0001819	synonymous_variant	9745				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	g.chr19:30935519C>T		CCDS32984.1	19q13.11	2013-01-08				ENSG00000198597		"Zinc fingers, C2H2-type"	29025	protein-coding gene	gene with protein product						9205841	Standard	XM_005259445		Approved	KIAA0390	uc002nsu.1	O15090		ENST00000355537.3:c.1050C>T	19.37:g.30935519C>T							p.C350C	NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN			2	1197	+	Esophageal squamous(110;0.0834)		350					A2RU18	Silent	SNP	ENST00000355537.3	37	c.1050C>T	CCDS32984.1																																																																																				0.657	ZNF536-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459667.2	NM_014717		10	210	0	0	0	1	0	10	210					T	30935519	C	T	30935519	2	4	245	1	0	0	0	0	0	0	0	1	17971	776	27	1		1	ZNF536	19	30935519	Silent	SNP	C	TCGA-HC-A6AO-01A-11D-A30E-08	7995689	30935519	28193464	43	11548											
EML2	24139	broad.mit.edu	37	chr19	46119742	46119742	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gcacttgcccaggcggctgaCcttgcggccgccctggtcca	4	7	13	17	3	0	1	0	1	0	0	1	1	1	1	5	4	2	2	5	4	0	2			TCGA-HC-A6AO-01A-11D-A30E-08	TCGA-HC-A6AO-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78928ca5-e8a3-4c7c-a8ca-a0e5801870f9	300a9b2e-8abd-4a19-a4fc-b5e4b266e1df	g.chr19:46119742C>A	ENST00000245925.3	-	15	1536	c.1486G>T	c.(1486-1488)Gtc>Ttc	p.V496F	EML2_ENST00000589876.1_Missense_Mutation_p.V496F|EML2_ENST00000536630.1_Missense_Mutation_p.V643F|EML2_ENST00000587152.1_Missense_Mutation_p.V697F	NM_012155.2	NP_036287.1	O95834	EMAL2_HUMAN	echinoderm microtubule associated protein like 2	496	Tandem atypical propeller in EMLs. {ECO:0000250}.				negative regulation of microtubule polymerization (GO:0031115)|regulation of microtubule nucleation (GO:0010968)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)	microtubule binding (GO:0008017)|tubulin binding (GO:0015631)			NS(1)|breast(2)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(13)|ovary(1)|urinary_tract(1)	31		Ovarian(192;0.179)|all_neural(266;0.224)		OV - Ovarian serous cystadenocarcinoma(262;0.00553)|GBM - Glioblastoma multiforme(486;0.131)|Epithelial(262;0.197)		AGGCGGCTGACCTTGCGGCCG	0.672																																						ENST00000536630.1																			0				NS(1)|breast(2)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(13)|ovary(1)|urinary_tract(1)	31						c.(1927-1929)Gtc>Ttc		echinoderm microtubule associated protein like 2							25	28	27					19																	46119742		2187	4274	6461	SO:0001583	missense	24139				sensory perception of sound|visual perception	cytoplasm|intracellular membrane-bounded organelle|microtubule|microtubule associated complex	catalytic activity|protein binding	g.chr19:46119742C>A	AF103939	CCDS12670.1, CCDS54280.1, CCDS59399.1	19q13.32	2013-01-10				ENSG00000125746		"WD repeat domain containing"	18035	protein-coding gene	gene with protein product	"echinoderm MT-associated protein (EMAP)-like protein 70", "microtubule-associated protein like echinoderm EMAP"					11694528, 10521658	Standard	NM_012155		Approved	EMAP2, ELP70, EMAP-2	uc010xxm.2	O95834		ENST00000245925.3:c.1486G>T	19.37:g.46119742C>A	ENSP00000245925:p.Val496Phe					EML2_ENST00000587152.1_Missense_Mutation_p.V697F|EML2_ENST00000245925.3_Missense_Mutation_p.V496F|EML2_ENST00000589876.1_Missense_Mutation_p.V496F	p.V643F	NM_001193269.1	NP_001180198.1	O95834	EMAL2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00553)|GBM - Glioblastoma multiforme(486;0.131)|Epithelial(262;0.197)	18	2065	-		Ovarian(192;0.179)|all_neural(266;0.224)	496					B7Z3I2|B7Z3Q9|K7ERL7|Q59EN8|Q8N5A2|Q9UG50	Missense_Mutation	SNP	ENST00000245925.3	37	c.1927G>T	CCDS12670.1	.	.	.	.	.	.	.	.	.	.	C	17.81	3.480204	0.63849	.	.	ENSG00000125746	ENST00000536630;ENST00000245925;ENST00000448055	T;T	0.28454	1.61;1.69	4.64	4.64	0.57946	WD40/YVTN repeat-like-containing domain (1);Soluble quinoprotein glucose/sorbosone dehydrogenase (1);WD40-repeat-containing domain (1);	0.144296	0.46758	D	0.000268	T	0.10551	0.0258	N	0.01242	-0.935	0.36121	D	0.845463	B;B;B	0.30406	0.215;0.278;0.263	B;B;B	0.28553	0.091;0.034;0.064	T	0.23190	-1.0195	10	0.27082	T	0.32	-31.8758	10.1513	0.42796	0.199:0.801:0.0:0.0	.	662;643;496	B7Z3Q9;B7Z3I2;O95834	.;.;EMAL2_HUMAN	F	643;496;654	ENSP00000442365:V643F;ENSP00000245925:V496F	ENSP00000245925:V496F	V	-	1	0	EML2	50811582	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.194000	0.72082	2.421000	0.82119	0.561000	0.74099	GTC		0.672	EML2-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000459608.1	NM_012155		29	49	1	0	8.53417e-09	1	9.46518e-09	29	49					A	46119742	C	A	46119742	3	1	245	1	0	0	0	0	1	0	0	0	5097	507	18	5	483	5	EML2	19	46119742	Missense_Mutation	SNP	C	TCGA-HC-A6AO-01A-11D-A30E-08	15184223	46119742	13009241	44	11549											
ZNF337	26152	broad.mit.edu	37	chr20	25666234	25666234	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cctggccggcgtcttctctcTtctccccagggcacttcccc	2	11	8	20	2	4	0	0	0	4	0	7	0	5	0	6	3	0	1	6	3	0	3			TCGA-HC-A6AO-01A-11D-A30E-08	TCGA-HC-A6AO-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78928ca5-e8a3-4c7c-a8ca-a0e5801870f9	300a9b2e-8abd-4a19-a4fc-b5e4b266e1df	g.chr20:25666234T>G	ENST00000376436.1	-	3	758	c.219A>C	c.(217-219)gaA>gaC	p.E73D	ZNF337_ENST00000538750.1_Intron|ZNF337_ENST00000481610.1_5'UTR|ZNF337_ENST00000252979.5_Missense_Mutation_p.E73D			Q9Y3M9	ZN337_HUMAN	zinc finger protein 337	73	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						GTCTTCTCTCTTCTCCCCAGG	0.572																																						ENST00000376436.1																			0				breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(217-219)gaA>gaC		zinc finger protein 337							149	153	151					20																	25666234		2203	4300	6503	SO:0001583	missense	26152							g.chr20:25666234T>G		CCDS13174.1	20p11.1	2013-09-20			ENSG00000130684	ENSG00000130684		"Zinc fingers, C2H2-type", "-"	15809	protein-coding gene	gene with protein product							Standard	XM_005260702		Approved	dJ694B14.1	uc002wuz.3	Q9Y3M9	OTTHUMG00000032131	ENST00000376436.1:c.219A>C	20.37:g.25666234T>G	ENSP00000365619:p.Glu73Asp					ZNF337_ENST00000252979.5_Missense_Mutation_p.E73D|ZNF337_ENST00000481610.1_5'UTR|ZNF337_ENST00000538750.1_Intron	p.E73D							3	758	-								B4DSM2|Q9Y3Y5	Missense_Mutation	SNP	ENST00000376436.1	37	c.219A>C	CCDS13174.1	.	.	.	.	.	.	.	.	.	.	.	1.783	-0.481511	0.04383	.	.	ENSG00000130684	ENST00000376436;ENST00000252979;ENST00000376412	T;T	0.05855	3.38;3.38	1.85	-1.21	0.09524	Krueppel-associated box (1);	.	.	.	.	T	0.04048	0.0113	L	0.48260	1.515	0.09310	N	1	B	0.31931	0.347	B	0.18561	0.022	T	0.45366	-0.9266	9	0.13470	T	0.59	.	3.6961	0.08365	0.0:0.1681:0.4688:0.3631	.	73	Q9Y3M9	ZN337_HUMAN	D	73	ENSP00000365619:E73D;ENSP00000252979:E73D	ENSP00000252979:E73D	E	-	3	2	ZNF337	25614234	0.000000	0.05858	0.001000	0.08648	0.017000	0.09413	-0.178000	0.09782	-0.714000	0.04975	-0.662000	0.03851	GAA		0.572	ZNF337-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078454.1			86	142	0	0	0	1	0	86	142					G	25666234	T	G	25666234	3	3	245	1	0	0	0	0	1	0	0	0	17850	1606	56	5	2044	5	ZNF337	20	25666234	Missense_Mutation	SNP	T	TCGA-HC-A6AO-01A-11D-A30E-08		25666234	37359286	45	11550											
BPI	671	broad.mit.edu	37	chr20	36952275	36952275	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gttgcctctacccccaggggGagttttacagtgagaaccac	9	9	11	12	0	1	1	0	1	1	1	1	3	1	2	4	2	4	2	4	2	3	4			TCGA-HC-A6AO-01A-11D-A30E-08	TCGA-HC-A6AO-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78928ca5-e8a3-4c7c-a8ca-a0e5801870f9	300a9b2e-8abd-4a19-a4fc-b5e4b266e1df	g.chr20:36952275G>T	ENST00000262865.4	+	8	861	c.772G>T	c.(772-774)Gag>Tag	p.E258*	BPI_ENST00000489102.1_Intron|CTD-2308N23.2_ENST00000437016.1_RNA	NM_001725.2	NP_001716.2	P17213	BPI_HUMAN	bactericidal/permeability-increasing protein	258					defense response to bacterium (GO:0042742)|immune response (GO:0006955)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of interleukin-8 production (GO:0032717)|negative regulation of macrophage activation (GO:0043031)|negative regulation of tumor necrosis factor production (GO:0032720)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	lipopolysaccharide binding (GO:0001530)			kidney(1)|large_intestine(6)|lung(15)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1)	30		Myeloproliferative disorder(115;0.00878)				CCCCCAGGGGGAGTTTTACAG	0.498																																						ENST00000262865.4																			0				kidney(1)|large_intestine(6)|lung(15)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1)	30						c.(772-774)Gag>Tag		bactericidal/permeability-increasing protein							109	90	97					20																	36952275		2203	4300	6503	SO:0001587	stop_gained	671				defense response to bacterium|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of macrophage activation|negative regulation of tumor necrosis factor production	extracellular region|integral to plasma membrane	lipid binding|lipopolysaccharide binding	g.chr20:36952275G>T	J04739	CCDS13303.1	20q11.23	2011-08-16			ENSG00000101425	ENSG00000101425		"BPI fold containing"	1095	protein-coding gene	gene with protein product	"BPI fold containing family D, member 1"	109195				8432532	Standard	NM_001725		Approved	BPIFD1	uc002xia.2	P17213	OTTHUMG00000032441	ENST00000262865.4:c.772G>T	20.37:g.36952275G>T	ENSP00000262865:p.Glu258*					CTD-2308N23.2_ENST00000437016.1_RNA|BPI_ENST00000489102.1_Intron	p.E258*	NM_001725.2	NP_001716.2	P17213	BPI_HUMAN			8	861	+		Myeloproliferative disorder(115;0.00878)	258					B2RCY2|Q1ZZU8|Q5JRW0|Q8IW58|Q9BYZ9|Q9H1L2|Q9H1M8|Q9H203|Q9UCT4|Q9UD65	Nonsense_Mutation	SNP	ENST00000262865.4	37	c.772G>T	CCDS13303.1	.	.	.	.	.	.	.	.	.	.	G	17.80	3.477534	0.63849	.	.	ENSG00000101425	ENST00000262865	.	.	.	4.46	2.29	0.28610	.	0.171726	0.39083	N	0.001469	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.52906	T	0.07	-28.7274	12.4664	0.55762	0.0:0.3203:0.6797:0.0	.	.	.	.	X	258	.	ENSP00000262865:E258X	E	+	1	0	BPI	36385689	0.995000	0.38212	0.558000	0.28319	0.082000	0.17680	2.432000	0.44784	1.205000	0.43262	0.650000	0.86243	GAG		0.498	BPI-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079157.2	NM_001725		5	51	1	0	0.000602214	1	0.000633363	5	51					T	36952275	G	T	36952275	4	4	245	1	0	0	0	0	0	1	0	0	1490	1175	41	5	802	5	BPI	20	36952275	Nonsense_Mutation	SNP	G	TCGA-HC-A6AO-01A-11D-A30E-08	11286041	36952275	26073245	46	11551											
BCAS1	8537	broad.mit.edu	37	chr20	52601966	52601966	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggaattcttgccagccccttGggtctcctgggatgtaaagt	7	12	12	10	0	2	0	0	0	2	0	3	2	2	2	4	3	2	1	4	3	3	4			TCGA-HC-A6AO-01A-11D-A30E-08	TCGA-HC-A6AO-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78928ca5-e8a3-4c7c-a8ca-a0e5801870f9	300a9b2e-8abd-4a19-a4fc-b5e4b266e1df	g.chr20:52601966G>T	ENST00000395961.3	-	7	1166	c.1000C>A	c.(1000-1002)Caa>Aaa	p.Q334K	BCAS1_ENST00000371440.3_Missense_Mutation_p.Q379K|BCAS1_ENST00000371435.2_Missense_Mutation_p.Q334K|BCAS1_ENST00000434986.2_Missense_Mutation_p.Q92K	NM_003657.2	NP_003648.2	O75363	BCAS1_HUMAN	breast carcinoma amplified sequence 1	334						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)				NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(23)|ovary(2)|skin(2)|stomach(1)|urinary_tract(1)	37	Breast(2;9.53e-15)|Lung NSC(4;5.57e-06)|all_lung(4;1.44e-05)		STAD - Stomach adenocarcinoma(23;0.116)|Colorectal(105;0.198)			CCAGCCCCTTGGGTCTCCTGG	0.502																																						ENST00000395961.3																			0				NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(23)|ovary(2)|skin(2)|stomach(1)|urinary_tract(1)	37						c.(1000-1002)Caa>Aaa		breast carcinoma amplified sequence 1							199	189	193					20																	52601966		2203	4300	6503	SO:0001583	missense	8537					cytoplasm	protein binding	g.chr20:52601966G>T	AF041260	CCDS13444.1	20q13.2	2006-11-10			ENSG00000064787	ENSG00000064787			974	protein-coding gene	gene with protein product		602968				9671742	Standard	NM_003657		Approved	NABC1, AIBC1	uc002xws.2	O75363	OTTHUMG00000032772	ENST00000395961.3:c.1000C>A	20.37:g.52601966G>T	ENSP00000379290:p.Gln334Lys					BCAS1_ENST00000371435.2_Missense_Mutation_p.Q334K|BCAS1_ENST00000434986.2_Missense_Mutation_p.Q92K|BCAS1_ENST00000371440.3_Missense_Mutation_p.Q379K	p.Q334K	NM_003657.2	NP_003648.2	O75363	BCAS1_HUMAN	STAD - Stomach adenocarcinoma(23;0.116)|Colorectal(105;0.198)		7	1166	-	Breast(2;9.53e-15)|Lung NSC(4;5.57e-06)|all_lung(4;1.44e-05)		334					A0AVG5|Q68CZ3	Missense_Mutation	SNP	ENST00000395961.3	37	c.1000C>A	CCDS13444.1	.	.	.	.	.	.	.	.	.	.	G	14.12	2.440483	0.43326	.	.	ENSG00000064787	ENST00000448484;ENST00000371440;ENST00000448710;ENST00000395961;ENST00000371435;ENST00000434986	T;T;T;T;T	0.06849	3.25;3.25;3.25;3.25;3.25	5.8	4.84	0.62591	.	0.891094	0.09735	N	0.762613	T	0.11665	0.0284	M	0.61703	1.905	0.80722	D	1	P;B;P;P;P;P	0.44776	0.573;0.264;0.573;0.843;0.459;0.459	B;B;B;B;B;B	0.42343	0.23;0.052;0.23;0.384;0.173;0.173	T	0.18116	-1.0347	10	0.07644	T	0.81	-0.0456	12.0494	0.53498	0.0:0.0:0.8167:0.1833	.	334;92;379;334;334;334	B2RCQ5;B4DFL4;O75363-2;G3XAF7;A0AVG7;O75363	.;.;.;.;.;BCAS1_HUMAN	K	241;379;212;334;334;92	ENSP00000396361:Q241K;ENSP00000360495:Q379K;ENSP00000379290:Q334K;ENSP00000360490:Q334K;ENSP00000409956:Q92K	ENSP00000360490:Q334K	Q	-	1	0	BCAS1	52035373	0.995000	0.38212	0.939000	0.37840	0.742000	0.42306	3.616000	0.54174	1.418000	0.47098	0.655000	0.94253	CAA		0.502	BCAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079766.2	NM_003657		89	157	1	0	5.60141e-34	1	6.57088e-34	89	157					T	52601966	G	T	52601966	3	4	245	1	0	0	0	0	1	0	0	0	1350	1357	47	5	778	5	BCAS1	20	52601966	Missense_Mutation	SNP	G	TCGA-HC-A6AO-01A-11D-A30E-08	15649691	52601966	10423554	47	11552											
TUBGCP6	85378	broad.mit.edu	37	chr22	50682160	50682160	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cattctaccttaatagccagCccagagaggtccgcattgtc	10	10	8	13	1	1	1	0	0	1	1	3	2	2	1	4	1	3	1	4	1	3	5			TCGA-HC-A6AO-01A-11D-A30E-08	TCGA-HC-A6AO-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78928ca5-e8a3-4c7c-a8ca-a0e5801870f9	300a9b2e-8abd-4a19-a4fc-b5e4b266e1df	g.chr22:50682160C>A	ENST00000248846.5	-	1	833	c.729G>T	c.(727-729)ggG>ggT	p.G243G	HDAC10_ENST00000498366.1_5'Flank|MAPK12_ENST00000497036.1_5'Flank|TUBGCP6_ENST00000439308.2_Silent_p.G243G			Q96RT7	GCP6_HUMAN	tubulin, gamma complex associated protein 6	243					G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|gamma-tubulin ring complex (GO:0008274)|membrane (GO:0016020)|microtubule (GO:0005874)|spindle pole (GO:0000922)	microtubule binding (GO:0008017)			breast(4)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(13)|ovary(3)|prostate(2)|skin(2)	45		all_cancers(38;5.79e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21)		TAATAGCCAGCCCAGAGAGGT	0.527																																						ENST00000439308.2																			0				breast(4)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(13)|ovary(3)|prostate(2)|skin(2)	45						c.(727-729)ggG>ggT		tubulin, gamma complex associated protein 6							44	49	47					22																	50682160		2203	4300	6503	SO:0001819	synonymous_variant	85378				G2/M transition of mitotic cell cycle|microtubule nucleation	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	microtubule binding	g.chr22:50682160C>A	AB051456	CCDS14087.1	22q13.31-q13.33	2008-07-01			ENSG00000128159	ENSG00000128159			18127	protein-coding gene	gene with protein product	"gamma-tubulin complex component 6"	610053				11694571, 11258795	Standard	XR_244458		Approved	GCP6, KIAA1669, DJ402G11.6	uc003bkb.1	Q96RT7	OTTHUMG00000030150	ENST00000248846.5:c.729G>T	22.37:g.50682160C>A						TUBGCP6_ENST00000248846.5_Silent_p.G243G	p.G243G	NM_020461.3	NP_065194.2	Q96RT7	GCP6_HUMAN		LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21)	1	1221	-		all_cancers(38;5.79e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)	243					Q5JZ80|Q6PJ40|Q86YE9|Q9BY91|Q9UGX3|Q9UGX4	Silent	SNP	ENST00000248846.5	37	c.729G>T	CCDS14087.1																																																																																				0.527	TUBGCP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075004.3	NM_020461		8	52	1	0	0.307466	1	0.307466	8	52					A	50682160	C	A	50682160	2	1	245	1	0	0	0	0	0	0	0	1	16767	726	26	5		5	TUBGCP6	22	50682160	Silent	SNP	C	TCGA-HC-A6AO-01A-11D-A30E-08		50682160	622406	48	11553											
PABPC5	140886	broad.mit.edu	37	chrX	90691469	90691469	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaggttaaaagaaaaaagtcGgcccccaggggtgcctatct	13	7	12	9	1	1	1	0	0	1	1	2	2	1	1	3	4	1	1	3	4	6	2			TCGA-HC-A6AO-01A-11D-A30E-08	TCGA-HC-A6AO-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78928ca5-e8a3-4c7c-a8ca-a0e5801870f9	300a9b2e-8abd-4a19-a4fc-b5e4b266e1df	g.chrX:90691469G>A	ENST00000312600.3	+	2	1107	c.893G>A	c.(892-894)cGg>cAg	p.R298Q	PABPC5_ENST00000373105.1_Missense_Mutation_p.R134Q|PABPC5-AS1_ENST00000456187.1_RNA	NM_080832.2	NP_543022.1	Q96DU9	PABP5_HUMAN	poly(A) binding protein, cytoplasmic 5	298						mitochondrion (GO:0005739)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(1)|pancreas(1)	42						GAAAAAAGTCGGCCCCCAGGG	0.453																																						ENST00000312600.3																			0				central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(1)|pancreas(1)	42						c.(892-894)cGg>cAg		poly(A) binding protein, cytoplasmic 5							30	32	31					X																	90691469		2203	4297	6500	SO:0001583	missense	140886					cytoplasm	nucleotide binding|RNA binding	g.chrX:90691469G>A	AJ278963	CCDS14460.1	Xq21.3	2013-02-12	2001-11-28		ENSG00000174740	ENSG00000174740		"RNA binding motif (RRM) containing"	13629	protein-coding gene	gene with protein product		300407	"poly(A)-binding protein, cytoplasmic 5"			11374897	Standard	NM_080832		Approved	PABP5	uc004efg.3	Q96DU9	OTTHUMG00000021959	ENST00000312600.3:c.893G>A	X.37:g.90691469G>A	ENSP00000308012:p.Arg298Gln					PABPC5_ENST00000373105.1_Missense_Mutation_p.R134Q	p.R298Q	NM_080832.2	NP_543022.1	Q96DU9	PABP5_HUMAN			2	1107	+			298					A8K240|Q5JQF4|Q6P529|Q9UFE5	Missense_Mutation	SNP	ENST00000312600.3	37	c.893G>A	CCDS14460.1	.	.	.	.	.	.	.	.	.	.	G	14.91	2.675537	0.47781	.	.	ENSG00000174740	ENST00000373105;ENST00000312600;ENST00000402906	T;T	0.21734	2.06;1.99	4.14	4.14	0.48551	.	0.000000	0.85682	D	0.000000	T	0.26991	0.0661	L	0.42686	1.345	0.45822	D	0.998699	D	0.71674	0.998	P	0.52598	0.703	T	0.01648	-1.1304	10	0.87932	D	0	.	10.8216	0.46608	0.0:0.0:1.0:0.0	.	298	Q96DU9	PABP5_HUMAN	Q	134;298;266	ENSP00000362197:R134Q;ENSP00000308012:R298Q	ENSP00000308012:R298Q	R	+	2	0	PABPC5	90578125	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.357000	0.52277	2.318000	0.78349	0.529000	0.55759	CGG		0.453	PABPC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057429.1	NM_080832		4	31	0	0	0	1	0	4	31					A	90691469	G	A	90691469	3	1	245	1	0	0	0	0	1	0	0	0	11367	1116	39	2	895	2	PABPC5	23	90691469	Missense_Mutation	SNP	G	TCGA-HC-A6AO-01A-11D-A30E-08		90691469	64579091	49	11554											
MAGEA4	4103	broad.mit.edu	37	chrX	151092295	151092295	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtccctggcaccctggaggaAgtgcctgctgctgagtcagc	6	8	14	13	0	1	1	1	1	0	0	2	3	2	3	3	3	4	3	3	3	1	0			TCGA-HC-A6AO-01A-11D-A30E-08	TCGA-HC-A6AO-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78928ca5-e8a3-4c7c-a8ca-a0e5801870f9	300a9b2e-8abd-4a19-a4fc-b5e4b266e1df	g.chrX:151092295A>G	ENST00000360243.2	+	3	426	c.159A>G	c.(157-159)gaA>gaG	p.E53E	MAGEA4_ENST00000393920.1_Silent_p.E53E|MAGEA4_ENST00000276344.2_Silent_p.E53E|MAGEA4_ENST00000370340.3_Silent_p.E53E|MAGEA4_ENST00000393921.1_Silent_p.E53E|MAGEA4_ENST00000370335.1_Silent_p.E53E|MAGEA4_ENST00000370337.4_Silent_p.E53E	NM_001011550.1	NP_001011550.1	P43358	MAGA4_HUMAN	melanoma antigen family A, 4	53				E -> K (in Ref. 3; BAA06841). {ECO:0000305}.						breast(2)|central_nervous_system(4)|endometrium(1)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)	27	Acute lymphoblastic leukemia(192;6.56e-05)					CCCTGGAGGAAGTGCCTGCTG	0.622																																						ENST00000370340.3																			0				breast(2)|central_nervous_system(4)|endometrium(1)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)	27						c.(157-159)gaA>gaG		melanoma antigen family A, 4							68	64	65					X																	151092295		2203	4300	6503	SO:0001819	synonymous_variant	4103						protein binding	g.chrX:151092295A>G		CCDS14702.1	Xq28	2009-03-13			ENSG00000147381	ENSG00000147381			6802	protein-coding gene	gene with protein product	"melanoma-associated antigen 4", "cancer/testis antigen family 1, member 4"	300175		MAGE4		8575766	Standard	XM_005274677		Approved	MAGE4A, MAGE4B, MAGE-41, MAGE-X2, MGC21336, CT1.4	uc004ffa.3	P43358	OTTHUMG00000024174	ENST00000360243.2:c.159A>G	X.37:g.151092295A>G						MAGEA4_ENST00000370337.4_Silent_p.E53E|MAGEA4_ENST00000393920.1_Silent_p.E53E|MAGEA4_ENST00000276344.2_Silent_p.E53E|MAGEA4_ENST00000360243.2_Silent_p.E53E|MAGEA4_ENST00000370335.1_Silent_p.E53E|MAGEA4_ENST00000393921.1_Silent_p.E53E	p.E53E			P43358	MAGA4_HUMAN			3	426	+	Acute lymphoblastic leukemia(192;6.56e-05)		53	E -> K (in Ref. 3; BAA06841).				Q14798	Silent	SNP	ENST00000360243.2	37	c.159A>G	CCDS14702.1																																																																																				0.622	MAGEA4-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060898.1	NM_002362		34	44	0	0	0	1	0	34	44					G	151092295	A	G	151092295	2	3	245	1	0	0	0	0	0	0	0	1	9168	69	3	4		4	MAGEA4	23	151092295	Silent	SNP	A	TCGA-HC-A6AO-01A-11D-A30E-08	60400826	151092295	4178265	50	11555											
FLG	2312	broad.mit.edu	37	chr1	152281936	152281936	+	Frame_Shift_Del	DEL	C	C	-																															gtccacgaatggtgtcctgaCcctcttgggacgctgagtgc																										TCGA-HC-A6AP-01A-11D-A30E-08	TCGA-HC-A6AP-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c224cf4-f1e6-4aa3-b08b-8d28cac6b2f6	574a6e8b-f27d-4fe5-8d21-6d0857077ac5	g.chr1:152281936delC	ENST00000368799.1	-	3	5461	c.5426delG	c.(5425-5427)ggtfs	p.G1809fs	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1809	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GGTGTCCTGACCCTCTTGGGA	0.597									Ichthyosis																													ENST00000368799.1																			0				autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424						c.(5425-5427)gtfs		filaggrin							336	345	342					1																	152281936		2203	4300	6503	SO:0001589	frameshift_variant	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152281936delC	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"EF-hand domain containing"	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.5426delG	1.37:g.152281936delC	ENSP00000357789:p.Gly1809fs					FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	p.G1809fs	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	5461	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1809			Ser-rich.		Q01720|Q5T583|Q9UC71	Frame_Shift_Del	DEL	ENST00000368799.1	37	c.5426delG	CCDS30860.1																																																																																				0.597	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		136	682						136	682	---	---	---	---	-	152281936	C	-	152281936	7	5	246	1	0	1	0	1	0	0	0	0	5922	507	18	0	6763	0	FLG	1	152281936	Frame_Shift_Del	DEL	C	TCGA-HC-A6AP-01A-11D-A30E-08		152281936	96968685	1	11556											
CD8B	926	broad.mit.edu	37	chr2	87085254	87085254	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcagaagtagatgccactgTcttccggcttcacgcttgtg	7	12	11	11	2	2	2	1	0	1	2	3	2	3	2	2	1	2	4	2	1	2	4			TCGA-HC-A6AP-01A-11D-A30E-08	TCGA-HC-A6AP-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c224cf4-f1e6-4aa3-b08b-8d28cac6b2f6	574a6e8b-f27d-4fe5-8d21-6d0857077ac5	g.chr2:87085254T>C	ENST00000390655.6	-	2	387	c.329A>G	c.(328-330)gAc>gGc	p.D110G	CD8B_ENST00000393759.2_Missense_Mutation_p.D110G|CD8B_ENST00000349455.3_Missense_Mutation_p.D110G|CD8B_ENST00000393761.2_Missense_Mutation_p.D110G|CD8B_ENST00000431506.2_Intron|CD8B_ENST00000331469.2_Missense_Mutation_p.D110G	NM_004931.4	NP_004922.1	P10966	CD8B_HUMAN	CD8b molecule	110	Ig-like V-type.				immune response (GO:0006955)|regulation of defense response to virus by virus (GO:0050690)|regulation of immune response (GO:0050776)|T cell activation (GO:0042110)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|viral process (GO:0016032)	early endosome membrane (GO:0031901)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|T cell receptor complex (GO:0042101)	coreceptor activity (GO:0015026)|MHC class I protein binding (GO:0042288)			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	13						GATGCCACTGTCTTCCGGCTT	0.532																																						ENST00000390655.6																			0				NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	13						c.(328-330)gAc>gGc		CD8b molecule							123	113	117					2																	87085254		2203	4300	6503	SO:0001583	missense	926				immune response|regulation of defense response to virus by virus|regulation of immune response|T cell activation|transmembrane receptor protein tyrosine kinase signaling pathway|viral reproduction	early endosome|extracellular region|integral to plasma membrane|T cell receptor complex	coreceptor activity|MHC class I protein binding	g.chr2:87085254T>C		CCDS1994.1, CCDS1995.1, CCDS42708.1, CCDS1997.1, CCDS54376.1	2p12	2013-01-11	2006-03-28	2006-03-09	ENSG00000172116	ENSG00000172116		"CD molecules", "Immunoglobulin superfamily / V-set domain containing"	1707	protein-coding gene	gene with protein product		186730	"CD8 antigen, beta polypeptide 1 (p37)"	CD8B1		1541829	Standard	NM_172213		Approved		uc002srw.3	P10966	OTTHUMG00000130264	ENST00000390655.6:c.329A>G	2.37:g.87085254T>C	ENSP00000375070:p.Asp110Gly					CD8B_ENST00000431506.2_Intron|CD8B_ENST00000393759.2_Missense_Mutation_p.D110G|CD8B_ENST00000349455.3_Missense_Mutation_p.D110G|CD8B_ENST00000393761.2_Missense_Mutation_p.D110G|CD8B_ENST00000331469.2_Missense_Mutation_p.D110G	p.D110G	NM_004931.4	NP_004922.1	P10966	CD8B_HUMAN			2	387	-			110			Ig-like V-type.		P14860|P14861|Q15980|Q496E0|Q496E1|Q496E2|Q9UDB4|Q9UDB5|Q9UDB6|Q9UDB7|Q9UDB8|Q9UDB9|Q9UDC0|Q9UQ55	Missense_Mutation	SNP	ENST00000390655.6	37	c.329A>G	CCDS1997.1	.	.	.	.	.	.	.	.	.	.	T	13.70	2.315334	0.40996	.	.	ENSG00000172116	ENST00000393761;ENST00000393759;ENST00000349455;ENST00000331469;ENST00000390655;ENST00000445248	D;D;D;D;D	0.88046	-2.33;-2.33;-2.33;-2.33;-2.33	4.55	4.55	0.56014	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.94192	0.8136	M	0.92555	3.32	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;1.0	D	0.94700	0.7882	10	0.87932	D	0	-30.4039	10.294	0.43613	0.0:0.0:0.0:1.0	.	110;110;110;110;110;110	Q496E2;Q53QL8;P10966;P10966-3;P10966-2;P10966-6	.;.;CD8B_HUMAN;.;.;.	G	110	ENSP00000377358:D110G;ENSP00000377356:D110G;ENSP00000340592:D110G;ENSP00000331172:D110G;ENSP00000375070:D110G	ENSP00000331172:D110G	D	-	2	0	CD8B	86938765	1.000000	0.71417	0.897000	0.35233	0.030000	0.12068	3.430000	0.52807	1.698000	0.51180	0.454000	0.30748	GAC		0.532	CD8B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330402.1	NM_172099		11	151	0	0	0	1	0	11	151					C	87085254	T	C	87085254	3	2	246	1	0	0	0	0	1	0	0	0	3045	1667	58	4	597	4	CD8B	2	87085254	Missense_Mutation	SNP	T	TCGA-HC-A6AP-01A-11D-A30E-08		87085254	156114119	2	11557											
LCT	3938	broad.mit.edu	37	chr2	136566179	136566179	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtcccccagggcgcagctctGttcattgccgtggaaggcca	6	8	13	14	2	2	0	1	0	1	0	3	1	3	1	4	3	2	3	4	3	1	2			TCGA-HC-A6AP-01A-11D-A30E-08	TCGA-HC-A6AP-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c224cf4-f1e6-4aa3-b08b-8d28cac6b2f6	574a6e8b-f27d-4fe5-8d21-6d0857077ac5	g.chr2:136566179G>A	ENST00000264162.2	-	8	3748	c.3738C>T	c.(3736-3738)aaC>aaT	p.N1246N	Y_RNA_ENST00000363794.1_RNA	NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	1246	4 X approximate repeats.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	glycosylceramidase activity (GO:0017042)|lactase activity (GO:0000016)			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)	Vitamin C(DB00126)	GCGCAGCTCTGTTCATTGCCG	0.577																																						ENST00000264162.2																			0				breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124						c.(3736-3738)aaC>aaT		lactase							153	127	136					2																	136566179		2203	4300	6503	SO:0001819	synonymous_variant	3938				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity	g.chr2:136566179G>A	X07994	CCDS2178.1	2q21	2014-09-17			ENSG00000115850	ENSG00000115850	3.2.1.108, 3.2.1.62		6530	protein-coding gene	gene with protein product		603202					Standard	NM_002299		Approved		uc002tuu.1	P09848	OTTHUMG00000131738	ENST00000264162.2:c.3738C>T	2.37:g.136566179G>A							p.N1246N	NM_002299.2	NP_002290.2	P09848	LPH_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.169)	8	3748	-			1246			4 X approximate repeats.		Q4ZG58	Silent	SNP	ENST00000264162.2	37	c.3738C>T	CCDS2178.1																																																																																				0.577	LCT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254657.1	NM_002299		4	110	0	0	0	1	0	4	110					A	136566179	G	A	136566179	2	1	246	1	0	0	0	0	0	0	0	1	8693	1368	48	3		3	LCT	2	136566179	Silent	SNP	G	TCGA-HC-A6AP-01A-11D-A30E-08	49480925	136566179	106633194	3	11558											
TTN	7273	broad.mit.edu	37	chr2	179398132	179398132	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcaatgttaggcccgagggAcagtggctgaccatctttct	8	12	11	10	1	3	1	1	1	2	0	3	3	3	2	2	3	0	2	2	3	2	3			TCGA-HC-A6AP-01A-11D-A30E-08	TCGA-HC-A6AP-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c224cf4-f1e6-4aa3-b08b-8d28cac6b2f6	574a6e8b-f27d-4fe5-8d21-6d0857077ac5	g.chr2:179398132A>G	ENST00000591111.1	-	308	98511	c.98287T>C	c.(98287-98289)Tcc>Ccc	p.S32763P	TTN-AS1_ENST00000604571.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000589355.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.S25531P|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585625.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.S31836P|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.S25464P|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000587944.1_RNA|TTN-AS1_ENST00000587568.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.S25339P|TTN-AS1_ENST00000450692.2_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.S34404P|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000591466.1_RNA			Q8WZ42	TITIN_HUMAN	titin	32763	Ig-like 145.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GGCCCGAGGGACAGTGGCTGA	0.463																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(103210-103212)Tcc>Ccc		titin							68	69	69					2																	179398132		1984	4157	6141	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179398132A>G	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.98287T>C	2.37:g.179398132A>G	ENSP00000465570:p.Ser32763Pro					TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.S32763P|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.S25464P|TTN_ENST00000342175.6_Missense_Mutation_p.S25531P|TTN-AS1_ENST00000442329.2_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.S25339P|TTN_ENST00000342992.6_Missense_Mutation_p.S31836P	p.S34404P	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		358	103434	-			32763					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.103210T>C		.	.	.	.	.	.	.	.	.	.	A	14.68	2.608796	0.46527	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.68331	-0.32;-0.32;-0.32;-0.32	5.83	5.83	0.93111	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.60728	0.2291	N	0.10837	0.055	0.33040	D	0.531285	D;D;D;D	0.54397	0.966;0.966;0.966;0.966	P;P;P;P	0.55303	0.773;0.773;0.773;0.773	T	0.72261	-0.4345	9	0.87932	D	0	.	11.8004	0.52124	0.8534:0.1465:0.0:0.0	.	25339;25464;25531;32763	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	P	31836;25339;25531;25464;25336	ENSP00000343764:S31836P;ENSP00000434586:S25339P;ENSP00000340554:S25531P;ENSP00000352154:S25464P	ENSP00000340554:S25531P	S	-	1	0	TTN	179106378	0.987000	0.35691	1.000000	0.80357	0.878000	0.50629	2.301000	0.43628	2.231000	0.72958	0.454000	0.30748	TCC		0.463	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		18	77	0	0	0	1	0	18	77					G	179398132	A	G	179398132	3	3	246	1	0	0	0	0	1	0	0	0	16732	275	10	4	4789	4	TTN	2	179398132	Missense_Mutation	SNP	A	TCGA-HC-A6AP-01A-11D-A30E-08	42831953	179398132	63801241	4	11559											
STK25	10494	broad.mit.edu	37	chr2	242435894	242435894	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggccaggctgaaggcgttcTccagctcctccagcgcaccc	6	6	11	18	3	1	1	0	1	1	0	4	1	3	1	5	3	2	4	5	3	1	1			TCGA-HC-A6AP-01A-11D-A30E-08	TCGA-HC-A6AP-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c224cf4-f1e6-4aa3-b08b-8d28cac6b2f6	574a6e8b-f27d-4fe5-8d21-6d0857077ac5	g.chr2:242435894T>G	ENST00000316586.4	-	11	1509	c.1160A>C	c.(1159-1161)gAg>gCg	p.E387A	STK25_ENST00000405585.1_Missense_Mutation_p.E310A|STK25_ENST00000543554.1_Missense_Mutation_p.E293A|STK25_ENST00000535007.1_Missense_Mutation_p.E293A|STK25_ENST00000401869.1_Missense_Mutation_p.E387A|STK25_ENST00000405883.3_Missense_Mutation_p.E310A|STK25_ENST00000403346.3_Missense_Mutation_p.E387A|STK25_ENST00000478403.1_5'UTR	NM_001271977.1|NM_001271978.1|NM_001282308.1	NP_001258906.1|NP_001258907.1|NP_001269237.1	O00506	STK25_HUMAN	serine/threonine kinase 25	387					establishment or maintenance of cell polarity (GO:0007163)|Golgi localization (GO:0051645)|positive regulation of axonogenesis (GO:0050772)|response to oxidative stress (GO:0006979)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|kidney(1)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	10		all_cancers(19;2.09e-34)|all_epithelial(40;2.09e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Ovarian(221;0.069)|Lung NSC(271;0.0886)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.2)		Epithelial(32;8.24e-34)|all cancers(36;3.46e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.6e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.1e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0839)		GAAGGCGTTCTCCAGCTCCTC	0.652																																					NSCLC(99;1100 1566 7679 28647 48345)	ENST00000316586.4																			0				breast(1)|kidney(1)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	10						c.(1159-1161)gAg>gCg		serine/threonine kinase 25							71	68	69					2																	242435894		2203	4300	6503	SO:0001583	missense	10494				response to oxidative stress|signal transduction	Golgi apparatus	ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity	g.chr2:242435894T>G	D63780	CCDS2549.1, CCDS63199.1, CCDS63200.1	2q37.3	2010-06-25	2010-06-25		ENSG00000115694	ENSG00000115694			11404	protein-coding gene	gene with protein product		602255	"serine/threonine kinase 25 (Ste20, yeast homolog)"			8887545, 9160885, 15037601	Standard	NM_001271977		Approved	SOK1, YSK1	uc002wbp.4	O00506	OTTHUMG00000133408	ENST00000316586.4:c.1160A>C	2.37:g.242435894T>G	ENSP00000325748:p.Glu387Ala					STK25_ENST00000405883.3_Missense_Mutation_p.E310A|STK25_ENST00000403346.3_Missense_Mutation_p.E387A|STK25_ENST00000478403.1_5'UTR|STK25_ENST00000401869.1_Missense_Mutation_p.E387A|STK25_ENST00000405585.1_Missense_Mutation_p.E310A|STK25_ENST00000543554.1_Missense_Mutation_p.E293A|STK25_ENST00000535007.1_Missense_Mutation_p.E293A	p.E387A	NM_001271977.1|NM_001271978.1	NP_001258906.1|NP_001258907.1	O00506	STK25_HUMAN		Epithelial(32;8.24e-34)|all cancers(36;3.46e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.6e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.1e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0839)	11	1509	-		all_cancers(19;2.09e-34)|all_epithelial(40;2.09e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Ovarian(221;0.069)|Lung NSC(271;0.0886)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.2)	387					A8K6Z3|A8K7D2|B7Z9K1|Q15522|Q5BJF1	Missense_Mutation	SNP	ENST00000316586.4	37	c.1160A>C	CCDS2549.1	.	.	.	.	.	.	.	.	.	.	T	20.3	3.969151	0.74131	.	.	ENSG00000115694	ENST00000316586;ENST00000403346;ENST00000401869;ENST00000405883;ENST00000545437;ENST00000405585;ENST00000543554;ENST00000535007	T;T;T;T;T;T;T	0.41758	0.99;0.99;0.99;0.99;0.99;0.99;0.99	4.89	4.89	0.63831	.	0.000000	0.85682	D	0.000000	T	0.45155	0.1328	M	0.76328	2.33	0.80722	D	1	B;B;B	0.33549	0.116;0.417;0.417	B;B;B	0.32465	0.101;0.146;0.146	T	0.48445	-0.9035	10	0.44086	T	0.13	.	14.8172	0.70045	0.0:0.0:0.0:1.0	.	313;310;387	B4DVS7;A8K6Z3;O00506	.;.;STK25_HUMAN	A	387;387;387;310;297;310;293;293	ENSP00000325748:E387A;ENSP00000384162:E387A;ENSP00000385687:E387A;ENSP00000384444:E310A;ENSP00000385541:E310A;ENSP00000444886:E293A;ENSP00000446008:E293A	ENSP00000325748:E387A	E	-	2	0	STK25	242084567	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.827000	0.86722	1.957000	0.56846	0.533000	0.62120	GAG		0.652	STK25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257265.4	NM_006374		6	70	0	0	0	1	0	6	70					G	242435894	T	G	242435894	3	3	246	1	0	0	0	0	1	0	0	0	15293	1551	54	5	128	5	STK25	2	242435894	Missense_Mutation	SNP	T	TCGA-HC-A6AP-01A-11D-A30E-08	63037762	242435894	763479	5	11560											
SCN10A	6336	broad.mit.edu	37	chr3	38753746	38753746	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cagtggagttttgaatcttgCagtcagacttgttattcaca	10	15	9	7	0	3	2	2	1	1	1	3	3	3	3	0	1	1	3	0	1	2	6			TCGA-HC-A6AP-01A-11D-A30E-08	TCGA-HC-A6AP-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c224cf4-f1e6-4aa3-b08b-8d28cac6b2f6	574a6e8b-f27d-4fe5-8d21-6d0857077ac5	g.chr3:38753746C>T	ENST00000449082.2	-	22	3994	c.3995G>A	c.(3994-3996)tGc>tAc	p.C1332Y		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	1332					AV node cell to bundle of His cell communication (GO:0086067)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of cardiac muscle contraction (GO:0055117)|regulation of heart rate (GO:0002027)|regulation of ion transmembrane transport (GO:0034765)|sensory perception (GO:0007600)|sensory perception of pain (GO:0019233)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	C-fiber (GO:0044299)|extracellular vesicular exosome (GO:0070062)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cinchocaine(DB00527)|Cocaine(DB00907)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Lacosamide(DB06218)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Orphenadrine(DB01173)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)|Valproic Acid(DB00313)	TTGAATCTTGCAGTCAGACTT	0.448																																						ENST00000449082.2																			0				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150						c.(3994-3996)tGc>tAc		sodium channel, voltage-gated, type X, alpha subunit	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)						129	124	126					3																	38753746		2203	4300	6503	SO:0001583	missense	6336				sensory perception	voltage-gated sodium channel complex		g.chr3:38753746C>T	AF117907	CCDS33736.1	3p22.2	2012-02-26	2007-01-23		ENSG00000185313	ENSG00000185313		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10582	protein-coding gene	gene with protein product		604427	"sodium channel, voltage-gated, type X, alpha polypeptide"			9839820, 10198179, 16382098	Standard	NM_006514		Approved	Nav1.8, hPN3, SNS, PN3	uc003ciq.3	Q9Y5Y9	OTTHUMG00000048245	ENST00000449082.2:c.3995G>A	3.37:g.38753746C>T	ENSP00000390600:p.Cys1332Tyr						p.C1332Y	NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	22	3994	-			1332					A6NDQ1	Missense_Mutation	SNP	ENST00000449082.2	37	c.3995G>A	CCDS33736.1	.	.	.	.	.	.	.	.	.	.	C	19.75	3.886395	0.72410	.	.	ENSG00000185313	ENST00000449082	D	0.96856	-4.15	4.78	4.78	0.61160	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99108	0.9693	H	0.99415	4.555	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	D	0.98808	1.0742	10	0.87932	D	0	.	18.0105	0.89221	0.0:1.0:0.0:0.0	.	1332	Q9Y5Y9	SCNAA_HUMAN	Y	1332	ENSP00000390600:C1332Y	ENSP00000390600:C1332Y	C	-	2	0	SCN10A	38728750	1.000000	0.71417	0.159000	0.22649	0.003000	0.03518	7.651000	0.83577	2.473000	0.83533	0.555000	0.69702	TGC		0.448	SCN10A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109745.3	NM_006514		13	140	0	0	0	1	0	13	140					T	38753746	C	T	38753746	3	4	246	1	0	0	0	0	1	0	0	0	13912	710	25	3	1899	3	SCN10A	3	38753746	Missense_Mutation	SNP	C	TCGA-HC-A6AP-01A-11D-A30E-08		38753746	159268684	6	11561											
SETD2	29072	broad.mit.edu	37	chr3	47125542	47125542	+	Frame_Shift_Del	DEL	C	C	-																															agggacattttctaattgatCaagatcctctttgccatcct																										TCGA-HC-A6AP-01A-11D-A30E-08	TCGA-HC-A6AP-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c224cf4-f1e6-4aa3-b08b-8d28cac6b2f6	574a6e8b-f27d-4fe5-8d21-6d0857077ac5	g.chr3:47125542delC	ENST00000409792.3	-	12	5770	c.5728delG	c.(5728-5730)gatfs	p.D1910fs	SETD2_ENST00000492397.1_5'Flank	NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2	1910					angiogenesis (GO:0001525)|cell migration involved in vasculogenesis (GO:0035441)|coronary vasculature morphogenesis (GO:0060977)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic placenta morphogenesis (GO:0060669)|forebrain development (GO:0030900)|histone H3-K36 trimethylation (GO:0097198)|mesoderm morphogenesis (GO:0048332)|mismatch repair (GO:0006298)|morphogenesis of a branching structure (GO:0001763)|neural tube closure (GO:0001843)|nucleosome organization (GO:0034728)|pericardium development (GO:0060039)|regulation of mRNA export from nucleus (GO:0010793)|regulation of transcription, DNA-templated (GO:0006355)|stem cell development (GO:0048864)|transcription elongation from RNA polymerase II promoter (GO:0006368)	chromosome (GO:0005694)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)			breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		TCTAATTGATCAAGATCCTCT	0.418			"N, F, S, Mis"		clear cell renal carcinoma																																	ENST00000409792.3				Rec	yes		3	3p21.31	29072	"N, F, S, Mis"	SET domain containing 2			E			clear cell renal carcinoma		0				breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141						c.(5728-5730)atfs		SET domain containing 2							259	249	252					3																	47125542		2203	4300	6503	SO:0001589	frameshift_variant	29072				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding	g.chr3:47125542delC	AJ238403	CCDS2749.2	3p21.31	2014-09-17			ENSG00000181555	ENSG00000181555		"Chromatin-modifying enzymes / K-methyltransferases"	18420	protein-coding gene	gene with protein product		612778				16118227, 11461154	Standard	NM_014159		Approved	HYPB, HIF-1, KIAA1732, FLJ23184, KMT3A	uc003cqs.3	Q9BYW2	OTTHUMG00000133514	ENST00000409792.3:c.5728delG	3.37:g.47125542delC	ENSP00000386759:p.Asp1910fs						p.D1910fs	NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)	12	5770	-		Acute lymphoblastic leukemia(5;0.0169)	1910					O75397|O75405|Q17RW8|Q5BKS9|Q5QGN2|Q69YI5|Q6IN64|Q6ZN53|Q6ZS25|Q8N3R0|Q8TCN0|Q9C0D1|Q9H696|Q9NZW9	Frame_Shift_Del	DEL	ENST00000409792.3	37	c.5728delG	CCDS2749.2																																																																																				0.418	SETD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257479.2	NM_014159		7	330						7	330	---	---	---	---	-	47125542	C	-	47125542	7	5	246	1	0	1	0	1	0	0	0	0	14131	826	29	0	2006	0	SETD2	3	47125542	Frame_Shift_Del	DEL	C	TCGA-HC-A6AP-01A-11D-A30E-08	8371796	47125542	150896888	7	11562											
TRAT1	50852	broad.mit.edu	37	chr3	108572512	108572512	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acgcctcacttgatcacagcGttaaggggaagcgtagaaag	13	7	12	9	3	2	2	2	1	0	1	2	3	2	3	1	2	2	2	1	2	4	3	rs149418284		TCGA-HC-A6AP-01A-11D-A30E-08	TCGA-HC-A6AP-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c224cf4-f1e6-4aa3-b08b-8d28cac6b2f6	574a6e8b-f27d-4fe5-8d21-6d0857077ac5	g.chr3:108572512G>A	ENST00000295756.6	+	6	579	c.349G>A	c.(349-351)Gtt>Att	p.V117I	TRAT1_ENST00000426646.1_Missense_Mutation_p.V80I	NM_016388.2	NP_057472.2	Q6PIZ9	TRAT1_HUMAN	T cell receptor associated transmembrane adaptor 1	117					cellular defense response (GO:0006968)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|negative regulation of receptor recycling (GO:0001920)|negative regulation of transport (GO:0051051)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of T cell receptor signaling pathway (GO:0050862)|signal transduction (GO:0007165)|T cell receptor signaling pathway (GO:0050852)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|T cell receptor complex (GO:0042101)	transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)			endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(3)	28						TGATCACAGCGTTAAGGGGAA	0.418																																						ENST00000295756.6																			0				endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(3)	28						c.(349-351)Gtt>Att		T cell receptor associated transmembrane adaptor 1		G	ILE/VAL	1,4405	2.1+/-5.4	0,1,2202	123	111	115		349	-11.3	0	3	dbSNP_134	115	0,8600		0,0,4300	no	missense	TRAT1	NM_016388.2	29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	117/187	108572512	1,13005	2203	4300	6503	SO:0001583	missense	50852				cellular defense response|negative regulation of receptor recycling|negative regulation of transport|positive regulation of calcium-mediated signaling|positive regulation of T cell receptor signaling pathway|T cell receptor signaling pathway	integral to plasma membrane|T cell receptor complex	phosphatidylinositol-4,5-bisphosphate 3-kinase activity|transmembrane receptor protein tyrosine kinase adaptor activity	g.chr3:108572512G>A	AJ240084	CCDS33813.1	3q13	2005-05-04	2005-05-04	2005-05-04	ENSG00000163519	ENSG00000163519			30698	protein-coding gene	gene with protein product		604962	"T cell receptor interacting molecule"	TCRIM		10663578, 9687533	Standard	NM_016388		Approved	HSPC062, TRIM	uc003dxi.1	Q6PIZ9	OTTHUMG00000159198	ENST00000295756.6:c.349G>A	3.37:g.108572512G>A	ENSP00000295756:p.Val117Ile					TRAT1_ENST00000426646.1_Missense_Mutation_p.V80I	p.V117I	NM_016388.2	NP_057472.2	Q6PIZ9	TRAT1_HUMAN			6	579	+			117					Q9NZX5	Missense_Mutation	SNP	ENST00000295756.6	37	c.349G>A	CCDS33813.1	.	.	.	.	.	.	.	.	.	.	G	9.669	1.146255	0.21288	2.27E-4	0.0	ENSG00000163519	ENST00000295756;ENST00000426646	T;T	0.41400	1.0;1.0	5.63	-11.3	0.00108	.	3.193790	0.00669	N	0.000637	T	0.19087	0.0458	N	0.22421	0.69	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.21965	-1.0230	10	0.17369	T	0.5	-1.4371	0.9006	0.01273	0.3761:0.1846:0.2738:0.1655	.	80;117	C9JF66;Q6PIZ9	.;TRAT1_HUMAN	I	117;80	ENSP00000295756:V117I;ENSP00000410097:V80I	ENSP00000295756:V117I	V	+	1	0	TRAT1	110055202	0.000000	0.05858	0.000000	0.03702	0.123000	0.20343	-2.190000	0.01247	-3.154000	0.00230	-1.551000	0.00897	GTT		0.418	TRAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353794.1	NM_016388		5	98	0	0	0	1	0	5	98					A	108572512	G	A	108572512	3	1	246	1	0	0	0	0	1	0	0	0	16463	1145	40	1	371	1	TRAT1	3	108572512	Missense_Mutation	SNP	G	TCGA-HC-A6AP-01A-11D-A30E-08	61446970	108572512	89449918	8	11563											
ALDH1L1	10840	broad.mit.edu	37	chr3	125844490	125844491	+	Frame_Shift_Ins	INS	-	-	A																															gatcaccactgtgttcccggINScagccaggcaggcagctgtc																										TCGA-HC-A6AP-01A-11D-A30E-08	TCGA-HC-A6AP-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c224cf4-f1e6-4aa3-b08b-8d28cac6b2f6	574a6e8b-f27d-4fe5-8d21-6d0857077ac5	g.chr3:125844490_125844491insA	ENST00000393434.2	-	15	2117_2118	c.1768_1769insT	c.(1768-1770)gccfs	p.A590fs	ALDH1L1_ENST00000393431.2_3'UTR|ALDH1L1_ENST00000452905.2_Frame_Shift_Ins_p.A489fs|ALDH1L1_ENST00000273450.3_Frame_Shift_Ins_p.A600fs|ALDH1L1_ENST00000472186.1_Frame_Shift_Ins_p.A590fs	NM_012190.3	NP_036322.2	O75891	AL1L1_HUMAN	aldehyde dehydrogenase 1 family, member L1	590	Aldehyde dehydrogenase.				10-formyltetrahydrofolate catabolic process (GO:0009258)|biosynthetic process (GO:0009058)|one-carbon metabolic process (GO:0006730)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	catalytic activity (GO:0003824)|formyltetrahydrofolate dehydrogenase activity (GO:0016155)|hydroxymethyl-, formyl- and related transferase activity (GO:0016742)|methyltransferase activity (GO:0008168)|oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor (GO:0016620)			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(5)|large_intestine(10)|lung(22)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	52				GBM - Glioblastoma multiforme(114;0.0462)	Tetrahydrofolic acid(DB00116)	TGTGTTCCCGGCAGCCAGGCAG	0.569																																						ENST00000393434.2																			0				NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(5)|large_intestine(10)|lung(22)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	52						c.(1768-1770)cggfs		aldehyde dehydrogenase 1 family, member L1	Tetrahydrofolic acid(DB00116)																																			SO:0001589	frameshift_variant	10840				10-formyltetrahydrofolate catabolic process|biosynthetic process		acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity	g.chr3:125844490_125844491insA	AF052732	CCDS3034.1, CCDS58850.1, CCDS58851.1	3q21.2	2010-07-19		2005-01-27	ENSG00000144908	ENSG00000144908	1.5.1.6	"Aldehyde dehydrogenases"	3978	protein-coding gene	gene with protein product	"cytosolic 10-formyltetrahydrofolate dehydrogenase"	600249	"formyltetrahydrofolate dehydrogenase"	FTHFD			Standard	NM_012190		Approved	10-fTHF	uc031sbp.1	O75891	OTTHUMG00000125551	ENST00000393434.2:c.1768_1769insT	3.37:g.125844490_125844491insA	ENSP00000377083:p.Ala590fs					ALDH1L1_ENST00000393431.2_3'UTR|ALDH1L1_ENST00000452905.2_Frame_Shift_Ins_p.R489fs|ALDH1L1_ENST00000472186.1_Frame_Shift_Ins_p.R590fs|ALDH1L1_ENST00000273450.3_Frame_Shift_Ins_p.R600fs	p.R590fs	NM_012190.3	NP_036322.2	O75891	AL1L1_HUMAN		GBM - Glioblastoma multiforme(114;0.0462)	15	2117_2118	-			590			Aldehyde dehydrogenase.		B4DG36|E9PBX3|Q68CS1	Frame_Shift_Ins	INS	ENST00000393434.2	37	c.1768_1769insT	CCDS3034.1																																																																																				0.569	ALDH1L1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354391.1	NM_012190		25	122						25	122	---	---	---	---	A	125844491	-	A	125844490	7	5	246	1	0	1	1	0	0	0	0	0	494	1203	42	0	975	0	ALDH1L1	3	125844490	Frame_Shift_Ins	INS	-	TCGA-HC-A6AP-01A-11D-A30E-08	17271978	125844490	72177940	9	11564											
TP63	8626	broad.mit.edu	37	chr3	189585680	189585680	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	gtgtaacagcagttgtgttgGagggatgaaccgccgtccaa	10	9	14	8	2	0	1	0	1	0	0	1	3	1	3	3	2	3	4	3	2	3	3			TCGA-HC-A6AP-01A-11D-A30E-08	TCGA-HC-A6AP-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c224cf4-f1e6-4aa3-b08b-8d28cac6b2f6	574a6e8b-f27d-4fe5-8d21-6d0857077ac5	g.chr3:189585680G>C	ENST00000264731.3	+	7	1030	c.941G>C	c.(940-942)gGa>gCa	p.G314A	TP63_ENST00000456148.1_Missense_Mutation_p.G220A|TP63_ENST00000382063.4_Missense_Mutation_p.G229A|TP63_ENST00000449992.1_Missense_Mutation_p.G135A|TP63_ENST00000354600.5_Missense_Mutation_p.G220A|TP63_ENST00000392463.2_Missense_Mutation_p.G220A|TP63_ENST00000437221.1_Missense_Mutation_p.G220A|TP63_ENST00000320472.5_Missense_Mutation_p.G314A|TP63_ENST00000392460.3_Missense_Mutation_p.G314A|TP63_ENST00000418709.2_Missense_Mutation_p.G314A|TP63_ENST00000440651.2_Missense_Mutation_p.G314A|TP63_ENST00000392461.3_Missense_Mutation_p.G220A	NM_001114978.1|NM_003722.4	NP_001108450.1|NP_003713.3	Q9H3D4	P63_HUMAN	tumor protein p63	314					apoptotic process (GO:0006915)|cell aging (GO:0007569)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|chromatin remodeling (GO:0006338)|cloacal septation (GO:0060197)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|ectoderm and mesoderm interaction (GO:0007499)|embryonic limb morphogenesis (GO:0030326)|epidermal cell division (GO:0010481)|epithelial cell development (GO:0002064)|establishment of planar polarity (GO:0001736)|establishment of skin barrier (GO:0061436)|female genitalia morphogenesis (GO:0048807)|hair follicle morphogenesis (GO:0031069)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|keratinocyte differentiation (GO:0030216)|keratinocyte proliferation (GO:0043616)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organismal aging (GO:0010259)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular senescence (GO:2000773)|negative regulation of keratinocyte differentiation (GO:0045617)|negative regulation of mesoderm development (GO:2000381)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|odontogenesis of dentin-containing tooth (GO:0042475)|polarized epithelial cell differentiation (GO:0030859)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell cycle G1/S phase transition (GO:1902808)|positive regulation of fibroblast apoptotic process (GO:2000271)|positive regulation of keratinocyte proliferation (GO:0010838)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|post-anal tail morphogenesis (GO:0036342)|prostatic bud formation (GO:0060513)|protein homotetramerization (GO:0051289)|proximal/distal pattern formation (GO:0009954)|regulation of epidermal cell division (GO:0010482)|regulation of neuron apoptotic process (GO:0043523)|response to gamma radiation (GO:0010332)|response to X-ray (GO:0010165)|skeletal system development (GO:0001501)|smooth muscle tissue development (GO:0048745)|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development (GO:0060529)|sympathetic nervous system development (GO:0048485)|urinary bladder development (GO:0060157)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|p53 binding (GO:0002039)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding transcription factor activity (GO:0000989)|transcription regulatory region DNA binding (GO:0044212)|WW domain binding (GO:0050699)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6)	61	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)		AGTTGTGTTGGAGGGATGAAC	0.393										HNSCC(45;0.13)																												ENST00000264731.3																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6)	61						c.(940-942)gGa>gCa		tumor protein p63							109	95	100					3																	189585680		2203	4300	6503	SO:0001583	missense	8626				anti-apoptosis|cellular response to UV|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|Notch signaling pathway|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to gamma radiation|response to X-ray	chromatin|cytosol|dendrite|Golgi apparatus|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr3:189585680G>C	AB010153	CCDS3293.1, CCDS46976.1, CCDS46977.1, CCDS46978.1, CCDS46979.1, CCDS46980.1	3q27-q29	2014-09-17			ENSG00000073282	ENSG00000073282			15979	protein-coding gene	gene with protein product		603273	"tumor protein p73-like", "tumor protein p53-like", "tumor protein p53-competing protein"	TP73L, TP53L, TP53CP		9774969, 9662378, 11181441, 11181451	Standard	NM_003722		Approved	p51, SHFM4, EEC3, p63, p73L, OFC8, KET, p73H, NBP, p53CP	uc003fry.2	Q9H3D4	OTTHUMG00000156313	ENST00000264731.3:c.941G>C	3.37:g.189585680G>C	ENSP00000264731:p.Gly314Ala	HNSCC(45;0.13)				TP63_ENST00000456148.1_Missense_Mutation_p.G220A|TP63_ENST00000392463.2_Missense_Mutation_p.G220A|TP63_ENST00000392461.3_Missense_Mutation_p.G220A|TP63_ENST00000437221.1_Missense_Mutation_p.G220A|TP63_ENST00000440651.2_Missense_Mutation_p.G314A|TP63_ENST00000354600.5_Missense_Mutation_p.G220A|TP63_ENST00000418709.2_Missense_Mutation_p.G314A|TP63_ENST00000449992.1_Missense_Mutation_p.G135A|TP63_ENST00000392460.3_Missense_Mutation_p.G314A|TP63_ENST00000382063.4_Missense_Mutation_p.G229A|TP63_ENST00000320472.5_Missense_Mutation_p.G314A	p.G314A	NM_001114978.1|NM_003722.4	NP_001108450.1|NP_003713.3	Q9H3D4	P63_HUMAN	Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)	7	1030	+	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		314					O75080|O75195|O75922|O76078|Q6VEG2|Q6VEG3|Q6VEG4|Q6VFJ1|Q6VFJ2|Q6VFJ3|Q6VH20|Q7LDI3|Q7LDI4|Q7LDI5|Q96KR0|Q9H3D2|Q9H3D3|Q9H3P8|Q9NPH7|Q9P1B4|Q9P1B5|Q9P1B6|Q9P1B7|Q9UBV9|Q9UE10|Q9UP26|Q9UP27|Q9UP28|Q9UP74	Missense_Mutation	SNP	ENST00000264731.3	37	c.941G>C	CCDS3293.1	.	.	.	.	.	.	.	.	.	.	G	25.5	4.643966	0.87859	.	.	ENSG00000073282	ENST00000264731;ENST00000418709;ENST00000320472;ENST00000392460;ENST00000440651;ENST00000382063;ENST00000354600;ENST00000437221;ENST00000392463;ENST00000392461;ENST00000449992;ENST00000456148	D;D;D;D;D;D;D;D;D;D;D;D	0.99893	-7.57;-7.57;-7.57;-7.57;-7.57;-7.57;-7.57;-7.57;-7.57;-7.57;-7.57;-7.57	5.61	5.61	0.85477	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99904	0.9954	M	0.90483	3.12	0.80722	D	1	D;D;D;D;D;D;D;D;D;D	0.89917	0.994;0.999;0.999;0.997;0.999;0.997;0.998;0.999;1.0;0.999	D;D;D;D;D;D;D;D;D;D	0.87578	0.98;0.996;0.996;0.99;0.992;0.993;0.996;0.996;0.998;0.995	D	0.96457	0.9338	9	.	.	.	-5.3428	18.6204	0.91319	0.0:0.0:1.0:0.0	.	135;314;314;220;220;220;220;314;314;314	Q9H3D4-10;Q9H3D4-7;Q9H3D4-11;Q9H3D4-4;Q9H3D4-2;Q9H3D4-6;C9D7C9;Q9H3D4-3;Q9H3D4;Q9H3D4-5	.;.;.;.;.;.;.;.;P63_HUMAN;.	A	314;314;314;314;314;229;220;220;220;220;135;220	ENSP00000264731:G314A;ENSP00000407144:G314A;ENSP00000317510:G314A;ENSP00000376253:G314A;ENSP00000394337:G314A;ENSP00000371495:G229A;ENSP00000346614:G220A;ENSP00000392488:G220A;ENSP00000376256:G220A;ENSP00000376254:G220A;ENSP00000387839:G135A;ENSP00000389485:G220A	.	G	+	2	0	TP63	191068374	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.652000	0.90054	0.655000	0.94253	GGA		0.393	TP63-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000343865.1	NM_003722		5	28	0	0	0	1	0	5	28					C	189585680	G	C	189585680	3	2	246	1	0	0	0	0	1	0	0	0	16389	1174	41	5	1013	5	TP63	3	189585680	Missense_Mutation	SNP	G	TCGA-HC-A6AP-01A-11D-A30E-08	63741190	189585680	8436750	10	11565											
ODAM	54959	broad.mit.edu	37	chr4	71063769	71063769	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctggactgctcccaaatcaGatacccttaacaggagaggc	12	7	10	12	0	1	2	1	0	0	2	2	4	2	3	2	3	3	2	2	3	3	2			TCGA-HC-A6AP-01A-11D-A30E-08	TCGA-HC-A6AP-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c224cf4-f1e6-4aa3-b08b-8d28cac6b2f6	574a6e8b-f27d-4fe5-8d21-6d0857077ac5	g.chr4:71063769G>T	ENST00000396094.2	+	4	318	c.270G>T	c.(268-270)caG>caT	p.Q90H		NM_017855.3	NP_060325.3	A1E959	ODAM_HUMAN	odontogenic, ameloblast asssociated	90	Gln-rich.				biomineral tissue development (GO:0031214)|odontogenesis of dentin-containing tooth (GO:0042475)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|fibril (GO:0043205)|nucleus (GO:0005634)				NS(1)|breast(2)|endometrium(2)|large_intestine(2)|lung(8)|ovary(3)|skin(2)	20						TCCCAAATCAGATACCCTTAA	0.517																																						ENST00000396094.2																			0				NS(1)|breast(2)|endometrium(2)|large_intestine(2)|lung(8)|ovary(3)|skin(2)	20						c.(268-270)caG>caT		odontogenic, ameloblast asssociated							184	185	184					4																	71063769		1901	4118	6019	SO:0001583	missense	54959				biomineral tissue development|odontogenesis of dentine-containing tooth	fibril		g.chr4:71063769G>T	AK000520	CCDS3536.2	4q13.3	2010-11-23			ENSG00000109205	ENSG00000109205			26043	protein-coding gene	gene with protein product		614843				14647039	Standard	NM_017855		Approved	APin, FLJ20513	uc003hfc.3	A1E959	OTTHUMG00000129406	ENST00000396094.2:c.270G>T	4.37:g.71063769G>T	ENSP00000379401:p.Gln90His						p.Q90H	NM_017855.3	NP_060325.3	A1E959	ODAM_HUMAN			4	318	+			90			Gln-rich.		Q8WWE5|Q9NWZ9	Missense_Mutation	SNP	ENST00000396094.2	37	c.270G>T	CCDS3536.2	.	.	.	.	.	.	.	.	.	.	G	10.44	1.351034	0.24512	.	.	ENSG00000109205	ENST00000396094;ENST00000510709;ENST00000514097	T;T	0.56275	0.47;0.47	4.39	2.62	0.31277	.	.	.	.	.	T	0.45915	0.1366	L	0.58101	1.795	0.21064	N	0.999792	B	0.21452	0.056	B	0.23150	0.044	T	0.44298	-0.9337	9	0.56958	D	0.05	-0.0213	5.3412	0.15984	0.1052:0.0:0.6948:0.2	.	90	A1E959	ODAM_HUMAN	H	90;76;43	ENSP00000379401:Q90H;ENSP00000426106:Q43H	ENSP00000379401:Q90H	Q	+	3	2	ODAM	71098358	0.736000	0.28164	0.498000	0.27564	0.026000	0.11368	0.775000	0.26689	0.580000	0.29522	0.561000	0.74099	CAG		0.517	ODAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251562.1	NM_017855		37	206	1	0	7.63091e-17	1	8.8049e-17	37	206					T	71063769	G	T	71063769	3	4	246	1	0	0	0	0	1	0	0	0	10824	933	33	5	284	5	ODAM	4	71063769	Missense_Mutation	SNP	G	TCGA-HC-A6AP-01A-11D-A30E-08		71063769	120090507	11	11566											
BMP2K	55589	broad.mit.edu	37	chr4	79792085	79792085	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagcatcgtcatcctcaccaGcagcagcagcagcagcagca	12	4	9	16	1	2	0	2	0	0	0	4	0	3	0	2	0	8	8	2	0	0	0	rs376418550	byFrequency	TCGA-HC-A6AP-01A-11D-A30E-08	TCGA-HC-A6AP-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c224cf4-f1e6-4aa3-b08b-8d28cac6b2f6	574a6e8b-f27d-4fe5-8d21-6d0857077ac5	g.chr4:79792085G>C	ENST00000335016.5	+	11	1546	c.1380G>C	c.(1378-1380)caG>caC	p.Q460H	BMP2K_ENST00000502871.1_Missense_Mutation_p.Q460H	NM_198892.1	NP_942595.1	Q9NSY1	BMP2K_HUMAN	BMP2 inducible kinase	460	Gln/His-rich.				regulation of bone mineralization (GO:0030500)	nucleus (GO:0005634)	ATP binding (GO:0005524)|phosphatase regulator activity (GO:0019208)|protein serine/threonine kinase activity (GO:0004674)	p.Q460H(3)		NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	13						ATCCTCACcagcagcagcagc	0.577																																						ENST00000335016.5																			3	Substitution - Missense(3)	p.Q460H(3)	endometrium(2)|prostate(1)	NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	13						c.(1378-1380)caG>caC		BMP2 inducible kinase							40	45	44					4																	79792085		2203	4300	6503	SO:0001583	missense	55589					nucleus	ATP binding|protein serine/threonine kinase activity	g.chr4:79792085G>C	AB015331	CCDS34019.1, CCDS47083.1	4q21.21	2008-05-15			ENSG00000138756	ENSG00000138756			18041	protein-coding gene	gene with protein product							Standard	NM_017593		Approved	DKFZp434K0614, BIKe	uc003hlk.3	Q9NSY1	OTTHUMG00000160900	ENST00000335016.5:c.1380G>C	4.37:g.79792085G>C	ENSP00000334836:p.Gln460His					BMP2K_ENST00000502871.1_Missense_Mutation_p.Q460H	p.Q460H	NM_198892.1	NP_942595.1	Q9NSY1	BMP2K_HUMAN			11	1546	+			460			Gln/His-rich.		O94791|Q4W5H2|Q8IYF2|Q8N2G7|Q8NHG9|Q9NTG8	Missense_Mutation	SNP	ENST00000335016.5	37	c.1380G>C	CCDS47083.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	8.089|8.089	0.774118|0.774118	0.16051|0.16051	.|.	.|.	ENSG00000138756|ENSG00000138756	ENST00000502613|ENST00000502871;ENST00000335016;ENST00000264889	.|T;T	.|0.74002	.|0.79;-0.8	5.12|5.12	2.26|2.26	0.28386|0.28386	.|.	.|1.238260	.|0.06146	.|N	.|0.673324	T|T	0.57504|0.57504	0.2058|0.2058	N|N	0.15975|0.15975	0.35|0.35	0.30181|0.30181	N|N	0.800383|0.800383	.|B;B	.|0.06786	.|0.001;0.0	.|B;B	.|0.04013	.|0.001;0.001	T|T	0.51803|0.51803	-0.8659|-0.8659	5|10	.|0.42905	.|T	.|0.14	0.0809|0.0809	5.9141|5.9141	0.19045|0.19045	0.0722:0.2493:0.5501:0.1284|0.0722:0.2493:0.5501:0.1284	.|.	.|460;460	.|Q9NSY1;Q4W5H2	.|BMP2K_HUMAN;.	P|H	153|460;460;474	.|ENSP00000421768:Q460H;ENSP00000334836:Q460H	.|ENSP00000264889:Q474H	A|Q	+|+	1|3	0|2	BMP2K|BMP2K	80011109|80011109	0.996000|0.996000	0.38824|0.38824	0.995000|0.995000	0.50966|0.50966	0.181000|0.181000	0.23173|0.23173	0.092000|0.092000	0.15066|0.15066	0.524000|0.524000	0.28502|0.28502	0.460000|0.460000	0.39030|0.39030	GCA|CAG		0.577	BMP2K-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_017593		4	64	0	0	0	1	0	4	64					C	79792085	G	C	79792085	3	2	246	1	0	0	0	0	1	0	0	0	1460	962	34	5	1422	5	BMP2K	4	79792085	Missense_Mutation	SNP	G	TCGA-HC-A6AP-01A-11D-A30E-08	8728316	79792085	111362191	12	11567											
SEC24D	9871	broad.mit.edu	37	chr4	119661874	119661874	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcgtgcttgaactccacggTcactgccttgtcacaatcga	9	11	8	13	3	2	1	2	1	0	0	5	2	3	1	2	1	3	1	2	1	2	2			TCGA-HC-A6AP-01A-11D-A30E-08	TCGA-HC-A6AP-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c224cf4-f1e6-4aa3-b08b-8d28cac6b2f6	574a6e8b-f27d-4fe5-8d21-6d0857077ac5	g.chr4:119661874T>G	ENST00000280551.6	-	17	2420	c.2182A>C	c.(2182-2184)Acc>Ccc	p.T728P	SEC24D_ENST00000505134.1_5'UTR|SEC24D_ENST00000511481.1_Missense_Mutation_p.T359P|SEC24D_ENST00000429811.2_Missense_Mutation_p.T284P|SEC24D_ENST00000379735.5_Missense_Mutation_p.T729P|SEC24D_ENST00000419654.2_Missense_Mutation_p.T284P			O94855	SC24D_HUMAN	SEC24 family member D	728					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular protein metabolic process (GO:0044267)|COPII vesicle coating (GO:0048208)|ER to Golgi vesicle-mediated transport (GO:0006888)|in utero embryonic development (GO:0001701)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|small molecule metabolic process (GO:0044281)	COPII vesicle coat (GO:0030127)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)	zinc ion binding (GO:0008270)			breast(3)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(13)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	37						AACTCCACGGTCACTGCCTTG	0.433																																						ENST00000379735.5																			0				breast(3)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(13)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	37						c.(2185-2187)Acc>Ccc		SEC24 family member D							162	135	144					4																	119661874		2203	4300	6503	SO:0001583	missense	9871				COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	zinc ion binding	g.chr4:119661874T>G	AB018298	CCDS3710.1	4q26	2013-10-21	2013-10-21		ENSG00000150961	ENSG00000150961			10706	protein-coding gene	gene with protein product		607186	"SEC24 (S. cerevisiae) related gene family, member D", "SEC24 family, member D (S. cerevisiae)"			9872452, 10075675	Standard	NM_014822		Approved	KIAA0755	uc003ici.4	O94855	OTTHUMG00000132957	ENST00000280551.6:c.2182A>C	4.37:g.119661874T>G	ENSP00000280551:p.Thr728Pro					SEC24D_ENST00000419654.2_Missense_Mutation_p.T284P|SEC24D_ENST00000511481.1_Missense_Mutation_p.T359P|SEC24D_ENST00000429811.2_Missense_Mutation_p.T284P|SEC24D_ENST00000280551.6_Missense_Mutation_p.T728P|SEC24D_ENST00000505134.1_5'UTR	p.T729P	NM_014822.2	NP_055637.2	O94855	SC24D_HUMAN			17	2456	-			728					Q8IYI7	Missense_Mutation	SNP	ENST00000280551.6	37	c.2185A>C	CCDS3710.1	.	.	.	.	.	.	.	.	.	.	T	34	5.382474	0.95967	.	.	ENSG00000150961	ENST00000280551;ENST00000379735;ENST00000429811;ENST00000511481;ENST00000419654	T;T;T;T;T	0.75589	-0.95;-0.95;-0.95;-0.95;-0.95	6.07	6.07	0.98685	Sec23/Sec24 beta-sandwich (1);	0.000000	0.85682	D	0.000000	D	0.87849	0.6281	M	0.87682	2.9	0.80722	D	1	D;D	0.76494	0.992;0.999	D;D	0.79108	0.925;0.992	D	0.88254	0.2918	10	0.44086	T	0.13	-28.329	16.6407	0.85098	0.0:0.0:0.0:1.0	.	729;728	O94855-2;O94855	.;SC24D_HUMAN	P	728;729;284;359;284	ENSP00000280551:T728P;ENSP00000369059:T729P;ENSP00000409775:T284P;ENSP00000425491:T359P;ENSP00000388324:T284P	ENSP00000280551:T728P	T	-	1	0	SEC24D	119881322	1.000000	0.71417	0.929000	0.37066	0.920000	0.55202	8.040000	0.89188	2.326000	0.78906	0.533000	0.62120	ACC		0.433	SEC24D-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000256514.4			12	92	0	0	0	1	0	12	92					G	119661874	T	G	119661874	3	3	246	1	0	0	0	0	1	0	0	0	13997	1667	58	5	944	5	SEC24D	4	119661874	Missense_Mutation	SNP	T	TCGA-HC-A6AP-01A-11D-A30E-08	39869789	119661874	71492402	13	11568											
GUCY1A3	2982	broad.mit.edu	37	chr4	156643250	156643250	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgttggagttaaaatgcccCgttactgtctttttggaaac	9	15	9	8	2	1	0	0	0	1	0	2	2	1	2	2	2	3	3	2	2	4	5	rs377038861		TCGA-HC-A6AP-01A-11D-A30E-08	TCGA-HC-A6AP-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c224cf4-f1e6-4aa3-b08b-8d28cac6b2f6	574a6e8b-f27d-4fe5-8d21-6d0857077ac5	g.chr4:156643250C>T	ENST00000296518.7	+	9	1986	c.1777C>T	c.(1777-1779)Cgt>Tgt	p.R593C	GUCY1A3_ENST00000506455.1_Missense_Mutation_p.R593C|GUCY1A3_ENST00000513574.1_Missense_Mutation_p.R593C|GUCY1A3_ENST00000511108.1_Missense_Mutation_p.R593C|GUCY1A3_ENST00000393832.3_Missense_Mutation_p.R335C|GUCY1A3_ENST00000455639.2_Missense_Mutation_p.R593C|GUCY1A3_ENST00000511507.1_Missense_Mutation_p.R593C			Q02108	GCYA3_HUMAN	guanylate cyclase 1, soluble, alpha 3	593	Guanylate cyclase. {ECO:0000255|PROSITE- ProRule:PRU00099}.				blood circulation (GO:0008015)|blood coagulation (GO:0007596)|nitric oxide mediated signal transduction (GO:0007263)|positive regulation of cGMP biosynthetic process (GO:0030828)|regulation of blood pressure (GO:0008217)|relaxation of vascular smooth muscle (GO:0060087)|response to defense-related host nitric oxide production (GO:0052565)	guanylate cyclase complex, soluble (GO:0008074)	GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|heme binding (GO:0020037)|receptor activity (GO:0004872)	p.R593S(1)		central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|liver(2)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.17)		TAAAATGCCCCGTTACTGTCT	0.423																																						ENST00000296518.7																			1	Substitution - Missense(1)	p.R593S(1)	lung(1)	central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|liver(2)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						c.(1777-1779)Cgt>Tgt		guanylate cyclase 1, soluble, alpha 3		C	CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG	0,4406		0,0,2203	236	226	230		1777,1777,1777,1777,1072,1777	5.8	1	4		230	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense,missense,missense	GUCY1A3	NM_000856.4,NM_001130682.1,NM_001130683.2,NM_001130684.1,NM_001130685.1,NM_001130687.1	180,180,180,180,180,180	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	593/691,593/691,593/691,593/691,358/456,593/625	156643250	1,13005	2203	4300	6503	SO:0001583	missense	2982				blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation	guanylate cyclase complex, soluble	GTP binding|guanylate cyclase activity|heme binding|receptor activity	g.chr4:156643250C>T		CCDS34085.1, CCDS54812.1	4q31.3-q33	2008-03-18				ENSG00000164116	4.6.1.2		4685	protein-coding gene	gene with protein product		139396		GUC1A3		1352257	Standard	NM_001130687		Approved	GC-SA3	uc003iow.3	Q02108		ENST00000296518.7:c.1777C>T	4.37:g.156643250C>T	ENSP00000296518:p.Arg593Cys					GUCY1A3_ENST00000511507.1_Missense_Mutation_p.R593C|GUCY1A3_ENST00000393832.3_Missense_Mutation_p.R335C|GUCY1A3_ENST00000513574.1_Missense_Mutation_p.R593C|GUCY1A3_ENST00000506455.1_Missense_Mutation_p.R593C|GUCY1A3_ENST00000511108.1_Missense_Mutation_p.R593C|GUCY1A3_ENST00000455639.2_Missense_Mutation_p.R593C	p.R593C			Q02108	GCYA3_HUMAN		COAD - Colon adenocarcinoma(41;0.17)	9	1986	+	all_hematologic(180;0.24)	Renal(120;0.0854)	593			Guanylate cyclase.		D3DP19|D6RDW3|O43843|Q8TAH3	Missense_Mutation	SNP	ENST00000296518.7	37	c.1777C>T	CCDS34085.1	.	.	.	.	.	.	.	.	.	.	C	23.5	4.427362	0.83667	0.0	1.16E-4	ENSG00000164116	ENST00000506455;ENST00000511108;ENST00000511507;ENST00000455639;ENST00000393832;ENST00000296518;ENST00000513574	D;D;D;D;D;D;D	0.82526	-1.62;-1.62;-1.62;-1.62;-1.62;-1.62;-1.62	5.82	5.82	0.92795	Adenylyl cyclase class-3/4/guanylyl cyclase, conserved site (1);Adenylyl cyclase class-3/4/guanylyl cyclase (5);	0.000000	0.64402	D	0.000007	D	0.94703	0.8291	H	0.98314	4.2	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.96170	0.9122	10	0.87932	D	0	.	14.8816	0.70537	0.1434:0.8566:0.0:0.0	.	593;593	B3KU69;Q02108	.;GCYA3_HUMAN	C	593;593;593;593;335;593;593	ENSP00000424361:R593C;ENSP00000421493:R593C;ENSP00000426968:R593C;ENSP00000412201:R593C;ENSP00000377418:R335C;ENSP00000296518:R593C;ENSP00000426040:R593C	ENSP00000296518:R593C	R	+	1	0	GUCY1A3	156862700	1.000000	0.71417	0.996000	0.52242	0.968000	0.65278	4.747000	0.62141	2.752000	0.94435	0.585000	0.79938	CGT		0.423	GUCY1A3-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365786.2			5	203	0	0	0	1	0	5	203					T	156643250	C	T	156643250	3	4	246	1	0	0	0	0	1	0	0	0	6894	652	23	2	1818	2	GUCY1A3	4	156643250	Missense_Mutation	SNP	C	TCGA-HC-A6AP-01A-11D-A30E-08	36981376	156643250	34511026	14	11569											
KIAA0947	23379	broad.mit.edu	37	chr5	5462719	5462719	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tacctcccaaagtagcctgcCtggtaccttacattgttaca	10	12	6	13	0	0	0	0	0	0	0	1	0	1	0	5	1	6	3	5	1	6	6			TCGA-HC-A6AP-01A-11D-A30E-08	TCGA-HC-A6AP-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c224cf4-f1e6-4aa3-b08b-8d28cac6b2f6	574a6e8b-f27d-4fe5-8d21-6d0857077ac5	g.chr5:5462719C>G	ENST00000296564.7	+	13	3494	c.3272C>G	c.(3271-3273)cCt>cGt	p.P1091R		NM_015325.2	NP_056140.1	Q9Y2F5	ICE1_HUMAN		1091					positive regulation of intracellular protein transport (GO:0090316)|positive regulation of protein complex assembly (GO:0031334)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|snRNA transcription from RNA polymerase II promoter (GO:0042795)|snRNA transcription from RNA polymerase III promoter (GO:0042796)	Cajal body (GO:0015030)|histone locus body (GO:0035363)|transcription elongation factor complex (GO:0008023)|transcriptionally active chromatin (GO:0035327)	protein homodimerization activity (GO:0042803)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	35						AGTAGCCTGCCTGGTACCTTA	0.498																																						ENST00000296564.7																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	35						c.(3271-3273)cCt>cGt		KIAA0947							77	78	78					5																	5462719		1971	4150	6121	SO:0001583	missense	23379							g.chr5:5462719C>G																												ENST00000296564.7:c.3272C>G	5.37:g.5462719C>G	ENSP00000296564:p.Pro1091Arg						p.P1091R	NM_015325.2	NP_056140.1	Q9Y2F5	K0947_HUMAN			13	3494	+			1091					Q68DE1|Q6ZT40|Q7L587|Q7Z3A9|Q9NTH9	Missense_Mutation	SNP	ENST00000296564.7	37	c.3272C>G	CCDS47187.1	.	.	.	.	.	.	.	.	.	.	c	9.789	1.177446	0.21787	.	.	ENSG00000164151	ENST00000296564	T	0.11604	2.76	4.63	0.238	0.15480	.	.	.	.	.	T	0.04815	0.0130	N	0.19112	0.55	0.09310	N	1	B	0.31859	0.343	B	0.26517	0.07	T	0.41215	-0.9521	9	0.17369	T	0.5	-0.6791	2.8524	0.05562	0.2176:0.4319:0.0:0.3505	.	1091	Q9Y2F5	K0947_HUMAN	R	1091	ENSP00000296564:P1091R	ENSP00000296564:P1091R	P	+	2	0	KIAA0947	5515719	0.000000	0.05858	0.000000	0.03702	0.068000	0.16541	-0.846000	0.04336	0.395000	0.25257	0.306000	0.20318	CCT		0.498	KIAA0947-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365575.1			8	99	0	0	0	1	0	8	99					G	5462719	C	G	5462719	3	3	246	1	0	0	0	0	1	0	0	0	8202	681	24	5	3322	5	KIAA0947	5	5462719	Missense_Mutation	SNP	C	TCGA-HC-A6AP-01A-11D-A30E-08		5462719	175452541	15	11570											
LHFPL2	10184	broad.mit.edu	37	chr5	77784960	77784960	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagggtagagtatcaaaccGaggataaggaatagacctgc	15	6	13	7	1	1	2	1	0	0	2	1	5	1	4	2	3	2	3	2	3	6	4			TCGA-HC-A6AP-01A-11D-A30E-08	TCGA-HC-A6AP-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c224cf4-f1e6-4aa3-b08b-8d28cac6b2f6	574a6e8b-f27d-4fe5-8d21-6d0857077ac5	g.chr5:77784960G>T	ENST00000515007.2	-	3	757	c.447C>A	c.(445-447)ctC>ctA	p.L149L	LHFPL2_ENST00000380345.2_Silent_p.L149L			Q6ZUX7	LHPL2_HUMAN	lipoma HMGIC fusion partner-like 2	149						integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(1)	6		all_lung(232;0.000409)|Lung NSC(167;0.00108)|Ovarian(174;0.0107)|Prostate(461;0.218)		OV - Ovarian serous cystadenocarcinoma(54;6.48e-46)|Epithelial(54;8.43e-42)|all cancers(79;1.42e-36)		GTATCAAACCGAGGATAAGGA	0.458																																						ENST00000380345.2																			0				endometrium(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(1)	6						c.(445-447)ctC>ctA		lipoma HMGIC fusion partner-like 2							61	67	65					5																	77784960		2203	4300	6503	SO:0001819	synonymous_variant	10184					integral to membrane		g.chr5:77784960G>T	D86961	CCDS4042.1	5q13	2008-02-05			ENSG00000145685	ENSG00000145685			6588	protein-coding gene	gene with protein product		609718				10329012	Standard	NM_005779		Approved	KIAA0206	uc003kfo.3	Q6ZUX7	OTTHUMG00000107579	ENST00000515007.2:c.447C>A	5.37:g.77784960G>T						LHFPL2_ENST00000515007.2_Silent_p.L149L	p.L149L	NM_005779.2	NP_005770.1	Q6ZUX7	LHPL2_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;6.48e-46)|Epithelial(54;8.43e-42)|all cancers(79;1.42e-36)	5	1122	-		all_lung(232;0.000409)|Lung NSC(167;0.00108)|Ovarian(174;0.0107)|Prostate(461;0.218)	149					B2RMQ6|Q7Z5P0|Q92605	Silent	SNP	ENST00000515007.2	37	c.447C>A	CCDS4042.1																																																																																				0.458	LHFPL2-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369098.2	NM_005779		4	116	1	0	0.150653	1	0.153207	4	116					T	77784960	G	T	77784960	2	4	246	1	0	0	0	0	0	0	0	1	8765	1045	37	5		5	LHFPL2	5	77784960	Silent	SNP	G	TCGA-HC-A6AP-01A-11D-A30E-08	72322241	77784960	103130300	16	11571											
TNIP1	10318	broad.mit.edu	37	chr5	150422163	150422163	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtcaaagtcacgctgcttctGctcccgctcggcctccaggt	5	10	10	16	3	3	0	2	0	1	0	6	0	5	0	3	2	2	4	3	2	1	1			TCGA-HC-A6AP-01A-11D-A30E-08	TCGA-HC-A6AP-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c224cf4-f1e6-4aa3-b08b-8d28cac6b2f6	574a6e8b-f27d-4fe5-8d21-6d0857077ac5	g.chr5:150422163G>A	ENST00000389378.2	-	11	1660	c.1072C>T	c.(1072-1074)Cag>Tag	p.Q358*	TNIP1_ENST00000315050.7_Nonsense_Mutation_p.Q358*|TNIP1_ENST00000520931.1_Nonsense_Mutation_p.Q305*|TNIP1_ENST00000521423.1_Intron|TNIP1_ENST00000522226.1_Nonsense_Mutation_p.Q358*|TNIP1_ENST00000523338.1_Nonsense_Mutation_p.Q358*|TNIP1_ENST00000521591.1_Nonsense_Mutation_p.Q358*|TNIP1_ENST00000518977.1_Nonsense_Mutation_p.Q358*|TNIP1_ENST00000523200.1_Nonsense_Mutation_p.Q358*|TNIP1_ENST00000524280.1_Nonsense_Mutation_p.Q358*	NM_001252385.1|NM_001252393.1|NM_001258454.1|NM_006058.4	NP_001239314.1|NP_001239322.1|NP_001245383.1|NP_006049.3	Q15025	TNIP1_HUMAN	TNFAIP3 interacting protein 1	358	Interaction with Shigella flexneri ipah9.8.|Interacts with Nef.				defense response (GO:0006952)|glycoprotein biosynthetic process (GO:0009101)|inflammatory response (GO:0006954)|leukocyte cell-cell adhesion (GO:0007159)|modulation by symbiont of host I-kappaB kinase/NF-kappaB cascade (GO:0085032)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of viral genome replication (GO:0045071)|positive regulation of inflammatory response (GO:0050729)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|translation (GO:0006412)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634)	mitogen-activated protein kinase binding (GO:0051019)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(1)|lung(5)|ovary(2)|prostate(2)|skin(3)	23		Medulloblastoma(196;0.0911)|all_hematologic(541;0.207)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CGCTGCTTCTGCTCCCGCTCG	0.577																																						ENST00000389378.2																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(1)|lung(5)|ovary(2)|prostate(2)|skin(3)	23						c.(1072-1074)Cag>Tag		TNFAIP3 interacting protein 1							62	55	58					5																	150422163		2203	4300	6503	SO:0001587	stop_gained	10318				defense response|glycoprotein biosynthetic process|negative regulation of viral genome replication|translation	cytoplasm|nucleus	protein binding	g.chr5:150422163G>A	AJ011895	CCDS34280.1, CCDS58982.1, CCDS58983.1, CCDS58984.1, CCDS58985.1, CCDS75359.1	5q32-q33.1	2008-07-18							16903	protein-coding gene	gene with protein product	"virion-associated nuclear-shuttling protein", "Nef-associated factor 1 SNP"	607714				9923610, 11090181	Standard	NM_001252385		Approved	NAF1, KIAA0113, ABIN-1, VAN	uc003ltj.3	Q15025		ENST00000389378.2:c.1072C>T	5.37:g.150422163G>A	ENSP00000374029:p.Gln358*					TNIP1_ENST00000524280.1_Nonsense_Mutation_p.Q358*|TNIP1_ENST00000518977.1_Nonsense_Mutation_p.Q358*|TNIP1_ENST00000521591.1_Nonsense_Mutation_p.Q358*|TNIP1_ENST00000523338.1_Nonsense_Mutation_p.Q358*|TNIP1_ENST00000520931.1_Nonsense_Mutation_p.Q305*|TNIP1_ENST00000315050.7_Nonsense_Mutation_p.Q358*|TNIP1_ENST00000522226.1_Nonsense_Mutation_p.Q358*|TNIP1_ENST00000521423.1_Intron|TNIP1_ENST00000523200.1_Nonsense_Mutation_p.Q358*	p.Q358*	NM_001252385.1|NM_001252393.1|NM_001258454.1|NM_006058.4	NP_001239314.1|NP_001239322.1|NP_001245383.1|NP_006049.3	Q15025	TNIP1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		11	1660	-		Medulloblastoma(196;0.0911)|all_hematologic(541;0.207)	358			Interacts with Nef.		A4F1W8|A4F1W9|A4F1X2|A4F1X4|A4F1X5|A4F1X6|A4F1X7|A4F1X9|B7Z699|E7EPY1|E7ET96|O76008|Q05KP3|Q05KP4|Q6N077|Q96EL9|Q99833|Q9H1J3	Nonsense_Mutation	SNP	ENST00000389378.2	37	c.1072C>T	CCDS34280.1	.	.	.	.	.	.	.	.	.	.	G	39	7.475777	0.98309	.	.	ENSG00000145901	ENST00000520931;ENST00000389378;ENST00000315050;ENST00000523338;ENST00000544828;ENST00000417127;ENST00000539213;ENST00000522226;ENST00000521591;ENST00000518977;ENST00000524280;ENST00000523200;ENST00000545840	.	.	.	5.05	5.05	0.67936	.	0.052365	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.29301	T	0.29	-28.325	18.0145	0.89235	0.0:0.0:1.0:0.0	.	.	.	.	X	305;358;358;358;315;315;320;358;358;358;358;358;315	.	ENSP00000317891:Q358X	Q	-	1	0	TNIP1	150402356	1.000000	0.71417	1.000000	0.80357	0.897000	0.52465	9.544000	0.98092	2.347000	0.79759	0.655000	0.94253	CAG		0.577	TNIP1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374914.1	NM_006058		4	58	0	0	0	1	0	4	58					A	150422163	G	A	150422163	4	1	246	1	0	0	0	0	0	1	0	0	16311	1328	46	3	870	3	TNIP1	5	150422163	Nonsense_Mutation	SNP	G	TCGA-HC-A6AP-01A-11D-A30E-08	72637203	150422163	30493097	17	11572											
RREB1	6239	broad.mit.edu	37	chr6	7230611	7230611	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtgtgccggctgtgcggcgAggacctcaagcactatcgtg	6	8	15	12	5	1	0	1	0	0	0	2	2	1	1	2	3	3	2	2	3	2	1			TCGA-HC-A6AP-01A-11D-A30E-08	TCGA-HC-A6AP-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c224cf4-f1e6-4aa3-b08b-8d28cac6b2f6	574a6e8b-f27d-4fe5-8d21-6d0857077ac5	g.chr6:7230611A>G	ENST00000349384.6	+	10	2593	c.2279A>G	c.(2278-2280)gAg>gGg	p.E760G	RREB1_ENST00000379933.3_Missense_Mutation_p.E760G|RREB1_ENST00000334984.6_Missense_Mutation_p.E760G|RREB1_ENST00000379938.2_Missense_Mutation_p.E760G	NM_001003698.3	NP_001003698.1	Q92766	RREB1_HUMAN	ras responsive element binding protein 1	760					multicellular organismal development (GO:0007275)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|Ras protein signal transduction (GO:0007265)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear body (GO:0016604)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)				CTGTGCGGCGAGGACCTCAAG	0.672																																						ENST00000379938.2																			0				breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						c.(2278-2280)gAg>gGg		ras responsive element binding protein 1							33	31	31					6																	7230611		2202	4298	6500	SO:0001583	missense	6239				multicellular organismal development|positive regulation of transcription, DNA-dependent|Ras protein signal transduction|transcription from RNA polymerase II promoter	cytoplasm|nuclear speck	DNA binding|zinc ion binding	g.chr6:7230611A>G	U26914	CCDS34335.1, CCDS34336.1, CCDS54963.1	6p25	2013-01-08			ENSG00000124782	ENSG00000124782		"Zinc fingers, C2H2-type"	10449	protein-coding gene	gene with protein product	"hindsight homolog (drosophila)"	602209				9367691, 18394891	Standard	NM_001003698		Approved	HNT	uc003mxb.3	Q92766	OTTHUMG00000014201	ENST00000349384.6:c.2279A>G	6.37:g.7230611A>G	ENSP00000305560:p.Glu760Gly					RREB1_ENST00000349384.6_Missense_Mutation_p.E760G|RREB1_ENST00000379933.3_Missense_Mutation_p.E760G|RREB1_ENST00000334984.6_Missense_Mutation_p.E760G	p.E760G	NM_001003699.3|NM_001003700.1	NP_001003699.1|NP_001003700.1	Q92766	RREB1_HUMAN			10	2816	+	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)	760					A2RRF5|E2GM80|E2GM81|O75567|O75568|Q5VYB2|Q6BEP5|Q6BEP6|Q6BEP8|Q86SU2|Q9Y474	Missense_Mutation	SNP	ENST00000349384.6	37	c.2279A>G	CCDS34336.1	.	.	.	.	.	.	.	.	.	.	A	16.49	3.137165	0.56936	.	.	ENSG00000124782	ENST00000379933;ENST00000379938;ENST00000349384;ENST00000334984;ENST00000483150	T;T;T;T;T	0.28666	1.6;1.6;1.6;1.6;2.75	5.46	5.46	0.80206	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);	0.091215	0.45867	D	0.000330	T	0.21427	0.0516	L	0.29908	0.895	0.58432	D	0.999993	P;P;P	0.49783	0.649;0.732;0.928	B;B;P	0.48030	0.398;0.322;0.564	T	0.02632	-1.1131	10	0.87932	D	0	-34.1798	15.7119	0.77635	1.0:0.0:0.0:0.0	.	760;760;760	Q92766-3;Q92766;Q92766-2	.;RREB1_HUMAN;.	G	760	ENSP00000369265:E760G;ENSP00000369270:E760G;ENSP00000305560:E760G;ENSP00000335574:E760G;ENSP00000419511:E760G	ENSP00000335574:E760G	E	+	2	0	RREB1	7175610	1.000000	0.71417	0.829000	0.32907	0.082000	0.17680	6.940000	0.75917	2.291000	0.77112	0.533000	0.62120	GAG		0.672	RREB1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000352985.1			5	74	0	0	0	1	0	5	74					G	7230611	A	G	7230611	3	3	246	1	0	0	0	0	1	0	0	0	13679	304	11	4	2305	4	RREB1	6	7230611	Missense_Mutation	SNP	A	TCGA-HC-A6AP-01A-11D-A30E-08		7230611	163884456	18	11573											
CDKN1A	1026	broad.mit.edu	37	chr6	36651975	36651975	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	acagcgagcagctgagccgcGactgtgatgcgctaatggcg	9	6	15	11	5	0	2	0	2	0	0	0	4	0	2	1	1	5	3	1	1	1	1	rs376481017		TCGA-HC-A6AP-01A-11D-A30E-08	TCGA-HC-A6AP-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c224cf4-f1e6-4aa3-b08b-8d28cac6b2f6	574a6e8b-f27d-4fe5-8d21-6d0857077ac5	g.chr6:36651975G>A	ENST00000405375.1	+	2	332	c.97G>A	c.(97-99)Gac>Aac	p.D33N	CDKN1A_ENST00000244741.5_Missense_Mutation_p.D33N|CDKN1A_ENST00000373711.2_Missense_Mutation_p.D33N|CDKN1A_ENST00000448526.2_Missense_Mutation_p.D67N|CDKN1A_ENST00000478800.1_3'UTR	NM_001220778.1	NP_001207707.1	P38936	CDN1A_HUMAN	cyclin-dependent kinase inhibitor 1A (p21, Cip1)	33					cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to extracellular stimulus (GO:0031668)|cellular response to ionizing radiation (GO:0071479)|cellular senescence (GO:0090398)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle (GO:0000278)|mitotic cell cycle arrest (GO:0071850)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of gene expression (GO:0010629)|negative regulation of phosphorylation (GO:0042326)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ regeneration (GO:0031100)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of programmed cell death (GO:0043068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|protein phosphorylation (GO:0006468)|Ras protein signal transduction (GO:0007265)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of DNA biosynthetic process (GO:2000278)|regulation of protein import into nucleus, translocation (GO:0033158)|response to arsenic-containing substance (GO:0046685)|response to corticosterone (GO:0051412)|response to drug (GO:0042493)|response to hyperoxia (GO:0055093)|response to organonitrogen compound (GO:0010243)|response to toxic substance (GO:0009636)|response to UV (GO:0009411)|stress-induced premature senescence (GO:0090400)	cyclin-dependent protein kinase holoenzyme complex (GO:0000307)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PCNA-p21 complex (GO:0070557)	cyclin-dependent protein kinase activating kinase activity (GO:0019912)|cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|metal ion binding (GO:0046872)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|urinary_tract(5)	15						GCTGAGCCGCGACTGTGATGC	0.647																																						ENST00000405375.1																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|urinary_tract(5)	15						c.(97-99)Gac>Aac		cyclin-dependent kinase inhibitor 1A (p21, Cip1)							41	38	39					6																	36651975		2203	4300	6503	SO:0001583	missense	1026				cell cycle arrest|cellular response to extracellular stimulus|cellular response to ionizing radiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|induction of apoptosis by intracellular signals|negative regulation of cell growth|negative regulation of cell proliferation|positive regulation of fibroblast proliferation|positive regulation of reactive oxygen species metabolic process|Ras protein signal transduction|S phase of mitotic cell cycle|stress-induced premature senescence	cyclin-dependent protein kinase holoenzyme complex|cytosol|nucleoplasm|PCNA-p21 complex	cyclin-dependent protein kinase activating kinase activity|cyclin-dependent protein kinase inhibitor activity|metal ion binding	g.chr6:36651975G>A	U03106	CCDS4824.1	6p21.1	2009-01-21			ENSG00000124762	ENSG00000124762			1784	protein-coding gene	gene with protein product		116899		CDKN1			Standard	NM_000389		Approved	P21, CIP1, WAF1, SDI1, CAP20, p21CIP1, p21Cip1/Waf1	uc021yzb.1	P38936	OTTHUMG00000014603	ENST00000405375.1:c.97G>A	6.37:g.36651975G>A	ENSP00000384849:p.Asp33Asn					CDKN1A_ENST00000478800.1_3'UTR|CDKN1A_ENST00000244741.5_Missense_Mutation_p.D33N|CDKN1A_ENST00000448526.2_Missense_Mutation_p.D67N|CDKN1A_ENST00000373711.2_Missense_Mutation_p.D33N	p.D33N	NM_001220778.1	NP_001207707.1	P38936	CDN1A_HUMAN			2	332	+			33					Q14010|Q6FI05|Q9BUT4	Missense_Mutation	SNP	ENST00000405375.1	37	c.97G>A	CCDS4824.1	.	.	.	.	.	.	.	.	.	.	G	19.08	3.757731	0.69648	.	.	ENSG00000124762	ENST00000448526;ENST00000244741;ENST00000405375;ENST00000373711	D;D;D;D	0.85484	-1.99;-1.99;-1.99;-1.99	5.06	5.06	0.68205	.	0.000000	0.56097	D	0.000030	D	0.89584	0.6757	M	0.80616	2.505	0.45554	D	0.998507	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.80764	0.99;0.994;0.978	D	0.87010	0.2122	10	0.23302	T	0.38	-38.2672	13.8081	0.63246	0.0:0.0:1.0:0.0	.	67;33;33	B4DQP9;P38936;Q96LE1	.;CDN1A_HUMAN;.	N	67;33;33;33	ENSP00000409259:D67N;ENSP00000244741:D33N;ENSP00000384849:D33N;ENSP00000362815:D33N	ENSP00000244741:D33N	D	+	1	0	CDKN1A	36759953	1.000000	0.71417	0.907000	0.35723	0.062000	0.15995	6.535000	0.73838	2.642000	0.89623	0.561000	0.74099	GAC		0.647	CDKN1A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040354.1	NM_078467		4	62	0	0	0	1	0	4	62					A	36651975	G	A	36651975	3	1	246	1	0	0	0	0	1	0	0	0	3158	1058	37	2	99	2	CDKN1A	6	36651975	Missense_Mutation	SNP	G	TCGA-HC-A6AP-01A-11D-A30E-08	29421364	36651975	134463092	19	11574											
ENPP5	59084	broad.mit.edu	37	chr6	46133138	46133138	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	actcacacagaaagtcatctGacttattctgtaaaatgtgc	14	12	6	9	0	4	2	2	1	2	1	4	2	4	2	0	0	1	1	0	0	4	3			TCGA-HC-A6AP-01A-11D-A30E-08	TCGA-HC-A6AP-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c224cf4-f1e6-4aa3-b08b-8d28cac6b2f6	574a6e8b-f27d-4fe5-8d21-6d0857077ac5	g.chr6:46133138G>A	ENST00000371383.2	-	4	1252	c.992C>T	c.(991-993)tCa>tTa	p.S331L	ENPP5_ENST00000230565.3_Missense_Mutation_p.S331L|ENPP5_ENST00000492313.1_5'UTR					ectonucleotide pyrophosphatase/phosphodiesterase 5 (putative)											endometrium(3)|kidney(1)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	12						AAAGTCATCTGACTTATTCTG	0.348																																						ENST00000371383.2																			0				endometrium(3)|kidney(1)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	12						c.(991-993)tCa>tTa		ectonucleotide pyrophosphatase/phosphodiesterase 5 (putative)							205	176	186					6																	46133138		2203	4300	6503	SO:0001583	missense	59084					extracellular region|integral to membrane	hydrolase activity	g.chr6:46133138G>A	AL035701	CCDS4915.1	6p21.1-p11.2	2010-06-24	2010-06-24		ENSG00000112796	ENSG00000112796			13717	protein-coding gene	gene with protein product						11027689	Standard	XM_005249259		Approved		uc003oxz.1	Q9UJA9	OTTHUMG00000014781	ENST00000371383.2:c.992C>T	6.37:g.46133138G>A	ENSP00000360436:p.Ser331Leu					ENPP5_ENST00000492313.1_5'UTR|ENPP5_ENST00000230565.3_Missense_Mutation_p.S331L	p.S331L			Q9UJA9	ENPP5_HUMAN			4	1252	-			331						Missense_Mutation	SNP	ENST00000371383.2	37	c.992C>T	CCDS4915.1	.	.	.	.	.	.	.	.	.	.	G	17.92	3.507397	0.64410	.	.	ENSG00000112796	ENST00000371383;ENST00000230565	T;T	0.72505	-0.66;-0.66	5.49	5.49	0.81192	Alkaline-phosphatase-like, core domain (1);	0.323607	0.28895	N	0.013799	T	0.67373	0.2886	L	0.60957	1.885	0.35363	D	0.788366	B;B	0.30973	0.302;0.302	B;B	0.39339	0.297;0.102	T	0.71580	-0.4550	10	0.66056	D	0.02	-12.7195	19.7429	0.96238	0.0:0.0:1.0:0.0	.	331;331	A8K9X7;Q9UJA9	.;ENPP5_HUMAN	L	331	ENSP00000360436:S331L;ENSP00000230565:S331L	ENSP00000230565:S331L	S	-	2	0	ENPP5	46241097	1.000000	0.71417	1.000000	0.80357	0.842000	0.47809	3.792000	0.55476	2.742000	0.94016	0.455000	0.32223	TCA		0.348	ENPP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040779.2			21	99	0	0	0	1	0	21	99					A	46133138	G	A	46133138	3	1	246	1	0	0	0	0	1	0	0	0	5133	1294	45	3	449	3	ENPP5	6	46133138	Missense_Mutation	SNP	G	TCGA-HC-A6AP-01A-11D-A30E-08	9481163	46133138	124981929	20	11575											
CLVS2	134829	broad.mit.edu	37	chr6	123319141	123319141	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaggccttccgcctcctggcGcagtactttgagtaccggca	6	9	12	14	3	0	1	0	1	0	0	2	2	2	1	5	3	2	4	5	3	2	4			TCGA-HC-A6AP-01A-11D-A30E-08	TCGA-HC-A6AP-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c224cf4-f1e6-4aa3-b08b-8d28cac6b2f6	574a6e8b-f27d-4fe5-8d21-6d0857077ac5	g.chr6:123319141G>A	ENST00000275162.5	+	2	1554	c.219G>A	c.(217-219)gcG>gcA	p.A73A	CLVS2_ENST00000368438.1_Intron	NM_001010852.3	NP_001010852.2	Q5SYC1	CLVS2_HUMAN	clavesin 2	73					lysosome organization (GO:0007040)	clathrin-coated vesicle (GO:0030136)|endosome (GO:0005768)|membrane (GO:0016020)|trans-Golgi network (GO:0005802)	phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|transporter activity (GO:0005215)	p.A73A(1)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	40						GCCTCCTGGCGCAGTACTTTG	0.562																																						ENST00000275162.4																			1	Substitution - coding silent(1)	p.A73A(1)	pancreas(1)	breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	40						c.(217-219)gcG>gcA		clavesin 2							142	125	131					6																	123319141		2203	4300	6503	SO:0001819	synonymous_variant	134829				lysosome organization	clathrin-coated vesicle|early endosome membrane|trans-Golgi network	phosphatidylinositol-3,5-bisphosphate binding|transporter activity	g.chr6:123319141G>A	AK095527	CCDS34525.1	6q22.31	2009-10-14	2009-10-14	2009-10-14	ENSG00000146352	ENSG00000146352			23046	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 212", "chromosome 6 open reading frame 213", "retinaldehyde binding protein 1-like 2"	C6orf212, C6orf213, RLBP1L2		19651769	Standard	NM_001010852		Approved	bA160A10.4	uc003pzi.1	Q5SYC1	OTTHUMG00000015495	ENST00000275162.5:c.219G>A	6.37:g.123319141G>A						CLVS2_ENST00000368438.1_Intron	p.A73A	NM_001010852.2	NP_001010852.2	Q5SYC1	CLVS2_HUMAN			2	1554	+			73					B3KTG5|B4DHL0|C8UZT4|Q5SYC0	Silent	SNP	ENST00000275162.5	37	c.219G>A	CCDS34525.1																																																																																				0.562	CLVS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042042.2	NM_001010852		37	153	0	0	0	1	0	37	153					A	123319141	G	A	123319141	2	1	246	1	0	0	0	0	0	0	0	1	3572	1074	38	1		1	CLVS2	6	123319141	Silent	SNP	G	TCGA-HC-A6AP-01A-11D-A30E-08	77186003	123319141	47795926	21	11576											
BCLAF1	9774	broad.mit.edu	37	chr6	136594276	136594276	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcttcagtggctttctgataCgaagtgaaccgctcgtttag	8	14	10	9	3	3	2	1	2	2	0	4	3	3	2	1	1	2	3	1	1	4	5			TCGA-HC-A6AP-01A-11D-A30E-08	TCGA-HC-A6AP-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c224cf4-f1e6-4aa3-b08b-8d28cac6b2f6	574a6e8b-f27d-4fe5-8d21-6d0857077ac5	g.chr6:136594276C>T	ENST00000531224.1	-	7	2154	c.1902G>A	c.(1900-1902)tcG>tcA	p.S634S	BCLAF1_ENST00000527536.1_Silent_p.S634S|BCLAF1_ENST00000530767.1_Silent_p.S461S|BCLAF1_ENST00000527759.1_Silent_p.S632S|BCLAF1_ENST00000392348.2_Silent_p.S632S|BCLAF1_ENST00000353331.4_Silent_p.S632S	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1	634					apoptotic process (GO:0006915)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA-templated transcription, initiation (GO:2000144)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of response to DNA damage stimulus (GO:2001022)|regulation of DNA-templated transcription in response to stress (GO:0043620)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)	p.S634S(1)		haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		CTTTCTGATACGAAGTGAACC	0.388																																					Colon(142;1534 1789 5427 7063 28491)	ENST00000531224.1																			1	Substitution - coding silent(1)	p.S634S(1)	large_intestine(1)	haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9						c.(1900-1902)tcG>tcA		BCL2-associated transcription factor 1							234	234	234					6																	136594276		2203	4300	6503	SO:0001819	synonymous_variant	9774				induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding	g.chr6:136594276C>T	AF249273	CCDS5177.1, CCDS47485.1, CCDS47486.1, CCDS75525.1	6q22-q23	2007-03-02			ENSG00000029363	ENSG00000029363			16863	protein-coding gene	gene with protein product		612588				8724849, 10330179	Standard	NM_001077440		Approved	KIAA0164, BTF	uc003qgx.1	Q9NYF8	OTTHUMG00000033323	ENST00000531224.1:c.1902G>A	6.37:g.136594276C>T						BCLAF1_ENST00000527759.1_Silent_p.S632S|BCLAF1_ENST00000353331.4_Silent_p.S632S|BCLAF1_ENST00000527536.1_Silent_p.S634S|BCLAF1_ENST00000392348.2_Silent_p.S632S|BCLAF1_ENST00000530767.1_Silent_p.S461S	p.S634S	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN		GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)	7	2154	-	Colorectal(23;0.24)		634					A2RU75|B7ZM58|E1P586|Q14673|Q86WU6|Q86WY0	Silent	SNP	ENST00000531224.1	37	c.1902G>A	CCDS5177.1																																																																																				0.388	BCLAF1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042375.2	NM_014739		4	226	0	0	0	1	0	4	226					T	136594276	C	T	136594276	2	4	246	1	0	0	0	0	0	0	0	1	1383	523	19	1		1	BCLAF1	6	136594276	Silent	SNP	C	TCGA-HC-A6AP-01A-11D-A30E-08	13275135	136594276	34520791	22	11577											
PLEKHG1	57480	broad.mit.edu	37	chr6	151140892	151140892	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aagaaggttctgctccatatCggctgagaagaaaatctggt	13	10	11	7	1	2	3	0	1	2	3	4	4	3	3	1	3	1	3	1	3	6	2	rs144621364	byFrequency	TCGA-HC-A6AP-01A-11D-A30E-08	TCGA-HC-A6AP-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c224cf4-f1e6-4aa3-b08b-8d28cac6b2f6	574a6e8b-f27d-4fe5-8d21-6d0857077ac5	g.chr6:151140892C>T	ENST00000358517.2	+	12	1601	c.1390C>T	c.(1390-1392)Cgg>Tgg	p.R464W	PLEKHG1_ENST00000367328.1_Missense_Mutation_p.R464W			Q9ULL1	PKHG1_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 1	464							Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(19)|ovary(5)|prostate(4)|stomach(1)|urinary_tract(3)	53			BRCA - Breast invasive adenocarcinoma(37;0.0923)	OV - Ovarian serous cystadenocarcinoma(155;6.69e-13)		TGCTCCATATCGGCTGAGAAG	0.433																																						ENST00000367328.1																			0				breast(3)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(19)|ovary(5)|prostate(4)|stomach(1)|urinary_tract(3)	53						c.(1390-1392)Cgg>Tgg		pleckstrin homology domain containing, family G (with RhoGef domain) member 1							127	124	125					6																	151140892		2203	4300	6503	SO:0001583	missense	57480				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	g.chr6:151140892C>T	AB033035	CCDS34552.1	6q25.1	2013-01-11			ENSG00000120278	ENSG00000120278		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	20884	protein-coding gene	gene with protein product						10574462	Standard	XM_005267064		Approved	KIAA1209, ARHGEF41	uc003qny.1	Q9ULL1	OTTHUMG00000015824	ENST00000358517.2:c.1390C>T	6.37:g.151140892C>T	ENSP00000351318:p.Arg464Trp					PLEKHG1_ENST00000358517.2_Missense_Mutation_p.R464W	p.R464W	NM_001029884.1	NP_001025055.1	Q9ULL1	PKHG1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.0923)	OV - Ovarian serous cystadenocarcinoma(155;6.69e-13)	13	1702	+			464					Q5T1F2	Missense_Mutation	SNP	ENST00000358517.2	37	c.1390C>T	CCDS34552.1	.	.	.	.	.	.	.	.	.	.	C	16.52	3.145573	0.57044	.	.	ENSG00000120278	ENST00000367328;ENST00000535018;ENST00000358517	T;T	0.64438	-0.1;-0.1	5.6	5.6	0.85130	.	0.000000	0.85682	D	0.000000	T	0.71592	0.3358	M	0.70275	2.135	0.54753	D	0.99998	D;D;D	0.89917	0.99;1.0;1.0	P;D;D	0.74023	0.853;0.982;0.982	T	0.75263	-0.3379	10	0.87932	D	0	.	12.2789	0.54753	0.1806:0.8194:0.0:0.0	.	271;464;464	Q5EBL9;Q5JYA6;Q9ULL1	.;.;PKHG1_HUMAN	W	464	ENSP00000356297:R464W;ENSP00000351318:R464W	ENSP00000351318:R464W	R	+	1	2	PLEKHG1	151182585	1.000000	0.71417	0.992000	0.48379	0.476000	0.33039	3.439000	0.52878	2.643000	0.89663	0.549000	0.68633	CGG		0.433	PLEKHG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042691.1			8	171	0	0	0	1	0	8	171					T	151140892	C	T	151140892	3	4	246	1	0	0	0	0	1	0	0	0	12068	875	31	2	1432	2	PLEKHG1	6	151140892	Missense_Mutation	SNP	C	TCGA-HC-A6AP-01A-11D-A30E-08	14546616	151140892	19974175	23	11578											
PIK3CG	5294	broad.mit.edu	37	chr7	106509129	106509129	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttgatatccccgtcctgcctCggaacaccgacctcacagtt	8	10	7	16	3	1	1	1	1	0	0	4	3	3	2	6	1	2	1	6	1	2	3			TCGA-HC-A6AP-01A-11D-A30E-08	TCGA-HC-A6AP-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c224cf4-f1e6-4aa3-b08b-8d28cac6b2f6	574a6e8b-f27d-4fe5-8d21-6d0857077ac5	g.chr7:106509129C>T	ENST00000359195.3	+	2	1433	c.1123C>T	c.(1123-1125)Cgg>Tgg	p.R375W	PIK3CG_ENST00000440650.2_Missense_Mutation_p.R375W|PIK3CG_ENST00000496166.1_Missense_Mutation_p.R375W	NM_001282427.1|NM_002649.2	NP_001269356.1|NP_002640.2	P48736	PK3CG_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma	375	C2 PI3K-type. {ECO:0000255|PROSITE- ProRule:PRU00880}.				adaptive immune response (GO:0002250)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cytokine production (GO:0001816)|dendritic cell chemotaxis (GO:0002407)|endocytosis (GO:0006897)|G-protein coupled receptor signaling pathway (GO:0007186)|hepatocyte apoptotic process (GO:0097284)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|mast cell degranulation (GO:0043303)|natural killer cell chemotaxis (GO:0035747)|negative regulation of cardiac muscle contraction (GO:0055118)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of triglyceride catabolic process (GO:0010897)|neutrophil chemotaxis (GO:0030593)|neutrophil extravasation (GO:0072672)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of cell adhesion mediated by integrin (GO:0033628)|respiratory burst involved in defense response (GO:0002679)|secretory granule localization (GO:0032252)|small molecule metabolic process (GO:0044281)|T cell activation (GO:0042110)|T cell chemotaxis (GO:0010818)|T cell proliferation (GO:0042098)	1-phosphatidylinositol-4-phosphate 3-kinase, class IB complex (GO:0005944)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|mast cell granule (GO:0042629)|membrane (GO:0016020)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|ephrin receptor binding (GO:0046875)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						CGTCCTGCCTCGGAACACCGA	0.557																																						ENST00000359195.3																			0				breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						c.(1123-1125)Cgg>Tgg		phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma							89	83	85					7																	106509129		2203	4300	6503	SO:0001583	missense	5294				G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding	g.chr7:106509129C>T		CCDS5739.1	7q22	2012-07-13	2012-07-13		ENSG00000105851	ENSG00000105851	2.7.1.153		8978	protein-coding gene	gene with protein product		601232	"phosphoinositide-3-kinase, catalytic, gamma polypeptide"				Standard	XM_005250443		Approved		uc003vdw.3	P48736	OTTHUMG00000157641	ENST00000359195.3:c.1123C>T	7.37:g.106509129C>T	ENSP00000352121:p.Arg375Trp					PIK3CG_ENST00000496166.1_Missense_Mutation_p.R375W|PIK3CG_ENST00000440650.2_Missense_Mutation_p.R375W	p.R375W	NM_002649.2	NP_002640.2	P48736	PK3CG_HUMAN			2	1433	+			375					A4D0Q6|Q8IV23|Q9BZC8	Missense_Mutation	SNP	ENST00000359195.3	37	c.1123C>T	CCDS5739.1	.	.	.	.	.	.	.	.	.	.	C	14.03	2.412520	0.42817	.	.	ENSG00000105851	ENST00000440650;ENST00000496166;ENST00000359195	T;T;T	0.71222	-0.55;-0.55;-0.55	5.73	5.73	0.89815	C2 calcium/lipid-binding domain, CaLB (1);Phosphoinositide 3-kinase, C2 (1);	0.086923	0.45126	D	0.000391	T	0.73697	0.3620	L	0.50333	1.59	0.54753	D	0.999987	D	0.53312	0.959	P	0.52554	0.702	T	0.75736	-0.3213	10	0.66056	D	0.02	-29.0228	12.9066	0.58156	0.2697:0.7303:0.0:0.0	.	375	P48736	PK3CG_HUMAN	W	375	ENSP00000392258:R375W;ENSP00000419260:R375W;ENSP00000352121:R375W	ENSP00000352121:R375W	R	+	1	2	PIK3CG	106296365	0.852000	0.29690	0.968000	0.41197	0.527000	0.34593	2.486000	0.45259	2.706000	0.92434	0.655000	0.94253	CGG		0.557	PIK3CG-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349294.1			4	120	0	0	0	1	0	4	120					T	106509129	C	T	106509129	3	4	246	1	0	0	0	0	1	0	0	0	11916	875	31	2	1125	2	PIK3CG	7	106509129	Missense_Mutation	SNP	C	TCGA-HC-A6AP-01A-11D-A30E-08		106509129	52629534	24	11579											
C9orf89	84270	broad.mit.edu	37	chr9	95872853	95872853	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cccccttgtaccctcagttcCggaaccccaaggcatccttg	7	9	7	18	1	1	0	1	0	0	0	3	1	3	1	7	2	2	3	7	2	3	4			TCGA-HC-A6AP-01A-11D-A30E-08	TCGA-HC-A6AP-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c224cf4-f1e6-4aa3-b08b-8d28cac6b2f6	574a6e8b-f27d-4fe5-8d21-6d0857077ac5	g.chr9:95872853C>T	ENST00000375464.2	+	3	282	c.154C>T	c.(154-156)Cgg>Tgg	p.R52W	C9orf89_ENST00000488630.1_3'UTR	NM_032310.3	NP_115686.3	Q96LW7	BINCA_HUMAN	chromosome 9 open reading frame 89	52	CARD.				negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	CARD domain binding (GO:0050700)			endometrium(1)|kidney(1)|lung(3)|ovary(1)|skin(1)	7						CCCTCAGTTCCGGAACCCCAA	0.667																																						ENST00000375464.2																			0				endometrium(1)|kidney(1)|lung(3)|ovary(1)|skin(1)	7						c.(154-156)Cgg>Tgg		chromosome 9 open reading frame 89							83	84	84					9																	95872853		2203	4300	6503	SO:0001583	missense	84270				negative regulation of I-kappaB kinase/NF-kappaB cascade	cytosol|nucleus	CARD domain binding	g.chr9:95872853C>T	AK057716	CCDS6702.2	9q22.32	2012-03-16			ENSG00000165233	ENSG00000165233			28148	protein-coding gene	gene with protein product	"Bcl10-interacting protein with CARD"					12477932	Standard	XM_005252273		Approved	MGC11115, bA370F5.1, BinCARD	uc004atd.3	Q96LW7	OTTHUMG00000020243	ENST00000375464.2:c.154C>T	9.37:g.95872853C>T	ENSP00000364613:p.Arg52Trp					C9orf89_ENST00000488630.1_3'UTR	p.R52W	NM_032310.3	NP_115686.3	Q96LW7	BINCA_HUMAN			3	282	+			52			CARD.		Q5BJH8|Q9BSY2	Missense_Mutation	SNP	ENST00000375464.2	37	c.154C>T	CCDS6702.2	.	.	.	.	.	.	.	.	.	.	C	16.03	3.007451	0.54361	.	.	ENSG00000165233	ENST00000375464	T	0.16324	2.35	4.8	3.83	0.44106	.	0.000000	0.85682	D	0.000000	T	0.38772	0.1053	.	.	.	0.47778	D	0.99951	D	0.89917	1.0	D	0.71414	0.973	T	0.25916	-1.0118	9	0.87932	D	0	.	11.802	0.52133	0.1761:0.8238:0.0:0.0	.	52	Q96LW7-2	.	W	52	ENSP00000364613:R52W	ENSP00000364613:R52W	R	+	1	2	C9orf89	94912674	1.000000	0.71417	1.000000	0.80357	0.307000	0.27823	0.503000	0.22610	2.386000	0.81285	0.491000	0.48974	CGG		0.667	C9orf89-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053128.1	NM_032310		4	116	0	0	0	1	0	4	116					T	95872853	C	T	95872853	3	4	246	1	0	0	0	0	1	0	0	0	2503	643	23	2	164	2	C9orf89	9	95872853	Missense_Mutation	SNP	C	TCGA-HC-A6AP-01A-11D-A30E-08		95872853	45340578	25	11580											
KIAA0649	9858	broad.mit.edu	37	chr9	138379680	138379680	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ctcttcagcccccacctgggGctgcctctgcagggcccctc	3	8	10	20	0	3	0	1	0	2	0	4	0	3	0	6	3	3	2	6	3	0	1			TCGA-HC-A6AP-01A-11D-A30E-08	TCGA-HC-A6AP-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c224cf4-f1e6-4aa3-b08b-8d28cac6b2f6	574a6e8b-f27d-4fe5-8d21-6d0857077ac5	g.chr9:138379680G>A	ENST00000356818.2	+	4	3873	c.3324G>A	c.(3322-3324)ggG>ggA	p.G1108G	PPP1R26_ENST00000605286.1_Silent_p.G1108G|PPP1R26_ENST00000605660.1_Silent_p.G1108G|PPP1R26_ENST00000602993.1_Intron|PPP1R26_ENST00000401470.3_Silent_p.G1108G|PPP1R26_ENST00000604351.1_Silent_p.G1108G	NM_014811.3	NP_055626.3	Q5T8A7	PPR26_HUMAN	protein phosphatase 1, regulatory subunit 26	1108					negative regulation of phosphatase activity (GO:0010923)	nucleus (GO:0005634)	phosphatase binding (GO:0019902)|protein phosphatase inhibitor activity (GO:0004864)										CCCACCTGGGGCTGCCTCTGC	0.672																																						ENST00000356818.2																			0											c.(3322-3324)ggG>ggA		protein phosphatase 1, regulatory subunit 26							9	12	11					9																	138379680		2018	4088	6106	SO:0001819	synonymous_variant	9858					nucleolus	protein binding	g.chr9:138379680G>A	AB014549	CCDS6988.1	9q34.3	2012-04-17	2011-10-11	2011-10-11	ENSG00000196422	ENSG00000196422		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	29089	protein-coding gene	gene with protein product	"DRIM/UTP20 interacting protein", "1A6/DRIM (down-regulated in metastasis) interacting protein"	614056	"KIAA0649"	KIAA0649		9734811, 16053918	Standard	NM_014811		Approved		uc004cfr.1	Q5T8A7	OTTHUMG00000020904	ENST00000356818.2:c.3324G>A	9.37:g.138379680G>A						PPP1R26_ENST00000605286.1_Silent_p.G1108G|PPP1R26_ENST00000604351.1_Silent_p.G1108G|PPP1R26_ENST00000602993.1_Intron|PPP1R26_ENST00000401470.3_Silent_p.G1108G|PPP1R26_ENST00000605660.1_Silent_p.G1108G	p.G1108G	NM_014811.3	NP_055626.3	Q5T8A7	K0649_HUMAN			4	3873	+			1108					Q86WU0|Q8WVV0|Q9Y4D3	Silent	SNP	ENST00000356818.2	37	c.3324G>A	CCDS6988.1																																																																																				0.672	PPP1R26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054987.1	NM_014811		5	25	0	0	0	1	0	5	25					A	138379680	G	A	138379680	2	1	246	1	0	0	0	0	0	0	0	1	8187	1190	42	3		3	KIAA0649	9	138379680	Silent	SNP	G	TCGA-HC-A6AP-01A-11D-A30E-08	42506827	138379680	2833751	26	11581											
SORCS1	114815	broad.mit.edu	37	chr10	108431016	108431016	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aatcaaaatcagcctcagtgCagacacagggttcagattcc	14	8	8	11	0	4	2	4	0	0	2	5	2	5	2	2	1	2	2	2	1	3	2			TCGA-HC-A6AP-01A-11D-A30E-08	TCGA-HC-A6AP-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c224cf4-f1e6-4aa3-b08b-8d28cac6b2f6	574a6e8b-f27d-4fe5-8d21-6d0857077ac5	g.chr10:108431016C>A	ENST00000263054.6	-	16	2175	c.2168G>T	c.(2167-2169)tGc>tTc	p.C723F	SORCS1_ENST00000369698.1_Missense_Mutation_p.C258F|SORCS1_ENST00000344440.6_Missense_Mutation_p.C723F	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN	sortilin-related VPS10 domain containing receptor 1	723					neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	neuropeptide receptor activity (GO:0008188)			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		AGCCTCAGTGCAGACACAGGG	0.418																																						ENST00000263054.6																			0				breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127						c.(2167-2169)tGc>tTc		sortilin-related VPS10 domain containing receptor 1							206	179	188					10																	108431016		2203	4300	6503	SO:0001583	missense	114815					integral to membrane	neuropeptide receptor activity|protein binding	g.chr10:108431016C>A	AF284756	CCDS7559.1	10q23-q25	2004-04-20			ENSG00000108018	ENSG00000108018			16697	protein-coding gene	gene with protein product		606283				11499680	Standard	NM_001206570		Approved	sorCS1	uc001kyl.3	Q8WY21	OTTHUMG00000019018	ENST00000263054.6:c.2168G>T	10.37:g.108431016C>A	ENSP00000263054:p.Cys723Phe					SORCS1_ENST00000369698.1_Missense_Mutation_p.C258F|SORCS1_ENST00000344440.6_Missense_Mutation_p.C723F	p.C723F	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN		Epithelial(162;1.66e-05)|all cancers(201;0.000689)	16	2175	-		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)	723					A2RRF4|Q59GG7|Q5JVT7|Q5JVT8|Q5VY14|Q86WQ1|Q86WQ2|Q9H1Y1|Q9H1Y2	Missense_Mutation	SNP	ENST00000263054.6	37	c.2168G>T	CCDS7559.1	.	.	.	.	.	.	.	.	.	.	C	23.9	4.468127	0.84533	.	.	ENSG00000108018	ENST00000369698;ENST00000263054;ENST00000344440	D;D;D	0.84589	-1.87;-1.84;-1.86	5.41	5.41	0.78517	VPS10 (1);	0.000000	0.85682	D	0.000000	D	0.94298	0.8168	M	0.91561	3.22	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.999;1.0;1.0;0.999;1.0	D	0.94819	0.7985	9	.	.	.	-19.785	19.636	0.95733	0.0:1.0:0.0:0.0	.	723;723;723;723;723	A8K182;Q8WY21-4;Q8WY21-3;Q8WY21;Q8WY21-2	.;.;.;SORC1_HUMAN;.	F	258;723;723	ENSP00000358712:C258F;ENSP00000263054:C723F;ENSP00000345964:C723F	.	C	-	2	0	SORCS1	108421006	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	7.442000	0.80503	2.720000	0.93068	0.650000	0.86243	TGC		0.418	SORCS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050232.4	NM_052918		11	78	1	0	3.86212e-05	1	4.13799e-05	11	78					A	108431016	C	A	108431016	3	1	246	1	0	0	0	0	1	0	0	0	14930	710	25	5	1616	5	SORCS1	10	108431016	Missense_Mutation	SNP	C	TCGA-HC-A6AP-01A-11D-A30E-08		108431016	27103731	27	11582											
MUC5B	727897	broad.mit.edu	37	chr11	1269965	1269965	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcactgatcaccacggccaCtacgatcacggccaccggct	10	6	8	17	4	3	1	3	1	0	0	3	2	3	1	4	3	1	1	4	3	1	1	rs201943411		TCGA-HC-A6AP-01A-11D-A30E-08	TCGA-HC-A6AP-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c224cf4-f1e6-4aa3-b08b-8d28cac6b2f6	574a6e8b-f27d-4fe5-8d21-6d0857077ac5	g.chr11:1269965C>A	ENST00000529681.1	+	31	11913	c.11855C>A	c.(11854-11856)aCt>aAt	p.T3952N	MUC5B_ENST00000447027.1_Missense_Mutation_p.T3955N|RP11-532E4.2_ENST00000532061.2_RNA	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	3952	11 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.				cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		accacggccactacgatcacg	0.617																																						ENST00000447027.1																			0				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137						c.(11863-11865)aCt>aAt		mucin 5B, oligomeric mucus/gel-forming							110	139	130					11																	1269965		1981	3993	5974	SO:0001583	missense	727897				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	g.chr11:1269965C>A	U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"Mucins"	7516	protein-coding gene	gene with protein product		600770	"mucin 5, subtype B, tracheobronchial"	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.11855C>A	11.37:g.1269965C>A	ENSP00000436812:p.Thr3952Asn					MUC5B_ENST00000529681.1_Missense_Mutation_p.T3952N|RP11-532E4.2_ENST00000532061.2_RNA	p.T3955N			Q9HC84	MUC5B_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)	31	11922	+		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	3952			11 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.		O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Missense_Mutation	SNP	ENST00000529681.1	37	c.11864C>A	CCDS44515.2	.	.	.	.	.	.	.	.	.	.	C	4.824	0.153222	0.09185	.	.	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637	T;T	0.20069	2.1;2.29	2.7	1.75	0.24633	.	.	.	.	.	T	0.38532	0.1044	M	0.70275	2.135	0.09310	N	1	D	0.63046	0.992	P	0.60789	0.879	T	0.12630	-1.0540	9	0.87932	D	0	.	9.0626	0.36444	0.0:0.8761:0.0:0.1239	.	3955	E9PBJ0	.	N	3952;3955;3896	ENSP00000436812:T3952N;ENSP00000415793:T3955N	ENSP00000343037:T3896N	T	+	2	0	MUC5B	1226541	0.000000	0.05858	0.001000	0.08648	0.004000	0.04260	0.026000	0.13599	0.429000	0.26202	0.298000	0.19748	ACT		0.617	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093		3	13	1	0	0.004672	1	0.00491789	3	13					A	1269965	C	A	1269965	3	1	246	1	0	0	0	0	1	0	0	0	9979	565	20	5	11986	5	MUC5B	11	1269965	Missense_Mutation	SNP	C	TCGA-HC-A6AP-01A-11D-A30E-08		1269965	133736551	28	11583											
OR4A16	81327	broad.mit.edu	37	chr11	55111206	55111206	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgttattgaccactctgtctGtgacatgtacccattgttgg	7	16	9	9	0	2	2	0	2	2	0	2	2	2	2	2	1	1	3	2	1	2	5	rs373084312		TCGA-HC-A6AP-01A-11D-A30E-08	TCGA-HC-A6AP-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c224cf4-f1e6-4aa3-b08b-8d28cac6b2f6	574a6e8b-f27d-4fe5-8d21-6d0857077ac5	g.chr11:55111206G>A	ENST00000314721.2	+	1	580	c.530G>A	c.(529-531)tGt>tAt	p.C177Y		NM_001005274.1	NP_001005274.1	Q8NH70	O4A16_HUMAN	olfactory receptor, family 4, subfamily A, member 16	177						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	51						CACTCTGTCTGTGACATGTAC	0.443																																						ENST00000314721.2																			0				NS(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	51						c.(529-531)tGt>tAt		olfactory receptor, family 4, subfamily A, member 16							249	215	226					11																	55111206		2201	4296	6497	SO:0001583	missense	81327				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55111206G>A	AB065519	CCDS31499.1	11q11	2012-08-09			ENSG00000181961	ENSG00000181961		"GPCR / Class A : Olfactory receptors"	15153	protein-coding gene	gene with protein product							Standard	NM_001005274		Approved	OR4A16Q	uc010rie.2	Q8NH70	OTTHUMG00000166710	ENST00000314721.2:c.530G>A	11.37:g.55111206G>A	ENSP00000325128:p.Cys177Tyr						p.C177Y	NM_001005274.1	NP_001005274.1	Q8NH70	O4A16_HUMAN			1	580	+			177					Q6IFL3	Missense_Mutation	SNP	ENST00000314721.2	37	c.530G>A	CCDS31499.1	.	.	.	.	.	.	.	.	.	.	g	10.48	1.363247	0.24684	.	.	ENSG00000181961	ENST00000314721	T	0.61980	0.06	2.54	2.54	0.30619	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	D	0.85539	0.5720	H	0.98487	4.245	0.32212	N	0.576453	D	0.89917	1.0	D	0.97110	1.0	D	0.87659	0.2533	9	0.87932	D	0	.	10.7712	0.46323	0.0:0.0:1.0:0.0	.	177	Q8NH70	O4A16_HUMAN	Y	177	ENSP00000325128:C177Y	ENSP00000325128:C177Y	C	+	2	0	OR4A16	54867782	1.000000	0.71417	0.945000	0.38365	0.081000	0.17604	7.859000	0.86982	1.421000	0.47157	0.423000	0.28283	TGT		0.443	OR4A16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391160.1	NM_001005274		9	166	0	0	0	1	0	9	166					A	55111206	G	A	55111206	3	1	246	1	0	0	0	0	1	0	0	0	11041	1377	48	3	532	3	OR4A16	11	55111206	Missense_Mutation	SNP	G	TCGA-HC-A6AP-01A-11D-A30E-08	53841241	55111206	79895310	29	11584											
NOX4	50507	broad.mit.edu	37	chr11	89165957	89165957	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gattctgacacttaccttatTgcatatgtagaggctgtgat	10	15	9	7	0	1	3	0	2	1	1	1	4	1	3	1	1	2	3	1	1	4	6			TCGA-HC-A6AP-01A-11D-A30E-08	TCGA-HC-A6AP-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c224cf4-f1e6-4aa3-b08b-8d28cac6b2f6	574a6e8b-f27d-4fe5-8d21-6d0857077ac5	g.chr11:89165957T>G	ENST00000263317.4	-	7	781	c.543A>C	c.(541-543)gcA>gcC	p.A181A	NOX4_ENST00000531342.1_Intron|NOX4_ENST00000525196.1_Silent_p.A181A|NOX4_ENST00000528341.1_Silent_p.A156A|NOX4_ENST00000535633.1_Silent_p.A157A|NOX4_ENST00000424319.1_Silent_p.A157A|NOX4_ENST00000532825.1_Silent_p.A157A|NOX4_ENST00000375979.3_Intron|NOX4_ENST00000413594.2_Silent_p.A202A|NOX4_ENST00000343727.5_Silent_p.A157A|NOX4_ENST00000542487.1_Silent_p.A157A|NOX4_ENST00000527626.1_Silent_p.A15A|NOX4_ENST00000527956.1_Silent_p.A157A|NOX4_ENST00000534731.1_Silent_p.A181A			Q9NPH5	NOX4_HUMAN	NADPH oxidase 4	181	Ferric oxidoreductase.				bone resorption (GO:0045453)|cardiac muscle cell differentiation (GO:0055007)|cell aging (GO:0007569)|cell morphogenesis (GO:0000902)|cellular response to cAMP (GO:0071320)|cellular response to gamma radiation (GO:0071480)|cellular response to glucose stimulus (GO:0071333)|cellular response to transforming growth factor beta stimulus (GO:0071560)|homocysteine metabolic process (GO:0050667)|inflammatory response (GO:0006954)|negative regulation of cell proliferation (GO:0008285)|oxidation-reduction process (GO:0055114)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of smooth muscle cell migration (GO:0014911)|positive regulation of stress fiber assembly (GO:0051496)|reactive oxygen species metabolic process (GO:0072593)|response to hypoxia (GO:0001666)|superoxide anion generation (GO:0042554)	apical plasma membrane (GO:0016324)|endoplasmic reticulum (GO:0005783)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|NADPH oxidase complex (GO:0043020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|heme binding (GO:0020037)|modified amino acid binding (GO:0072341)|NAD(P)H oxidase activity (GO:0016174)|nucleotide binding (GO:0000166)|oxygen sensor activity (GO:0019826)|superoxide-generating NADPH oxidase activity (GO:0016175)			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(20)|ovary(2)|prostate(3)|skin(2)	44		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.011)				CTTACCTTATTGCATATGTAG	0.368																																						ENST00000535633.1																			0				NS(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(20)|ovary(2)|prostate(3)|skin(2)	44						c.(469-471)gcA>gcC		NADPH oxidase 4							82	77	78					11																	89165957		2201	4299	6500	SO:0001819	synonymous_variant	50507				cell aging|cell morphogenesis|inflammatory response|negative regulation of cell proliferation|superoxide anion generation	endoplasmic reticulum membrane|focal adhesion|integral to membrane|nucleus	electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|nucleotide binding|oxygen sensor activity	g.chr11:89165957T>G	AF254621	CCDS8285.1, CCDS44695.1, CCDS44696.1, CCDS73361.1, CCDS73362.1	11q14.2-q21	2008-02-05			ENSG00000086991	ENSG00000086991			7891	protein-coding gene	gene with protein product		605261					Standard	NM_001143837		Approved	KOX-1, KOX	uc001pct.3	Q9NPH5	OTTHUMG00000167298	ENST00000263317.4:c.543A>C	11.37:g.89165957T>G						NOX4_ENST00000527626.1_Silent_p.A15A|NOX4_ENST00000263317.4_Silent_p.A181A|NOX4_ENST00000531342.1_Intron|NOX4_ENST00000413594.2_Silent_p.A202A|NOX4_ENST00000528341.1_Silent_p.A156A|NOX4_ENST00000525196.1_Silent_p.A181A|NOX4_ENST00000424319.1_Silent_p.A157A|NOX4_ENST00000532825.1_Silent_p.A157A|NOX4_ENST00000542487.1_Silent_p.A157A|NOX4_ENST00000527956.1_Silent_p.A157A|NOX4_ENST00000375979.3_Intron|NOX4_ENST00000534731.1_Silent_p.A181A|NOX4_ENST00000343727.5_Silent_p.A157A	p.A157A	NM_001143836.1|NM_016931.3	NP_001137308.1|NP_058627.1	Q9NPH5	NOX4_HUMAN			7	781	-		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.011)	181			Ferric oxidoreductase.		A8K715|B7Z520|E7EMD7|Q5K3R4|Q5K3R5|Q5K3R6|Q5K3R8|Q7Z7G3|Q86V92	Silent	SNP	ENST00000263317.4	37	c.471A>C	CCDS8285.1																																																																																				0.368	NOX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394054.1	NM_016931		9	34	0	0	0	1	0	9	34					G	89165957	T	G	89165957	2	3	246	1	0	0	0	0	0	0	0	1	10558	1799	63	5		5	NOX4	11	89165957	Silent	SNP	T	TCGA-HC-A6AP-01A-11D-A30E-08	34054751	89165957	45840559	30	11585											
DSCAML1	57453	broad.mit.edu	37	chr11	117374656	117374656	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtcctcttctaggacgtggcGgatcagcagcgagctgttgg	6	10	15	10	3	3	0	1	0	2	0	4	3	4	2	1	4	3	3	1	4	1	3			TCGA-HC-A6AP-01A-11D-A30E-08	TCGA-HC-A6AP-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c224cf4-f1e6-4aa3-b08b-8d28cac6b2f6	574a6e8b-f27d-4fe5-8d21-6d0857077ac5	g.chr11:117374656G>A	ENST00000321322.6	-	11	2444	c.2443C>T	c.(2443-2445)Cgc>Tgc	p.R815C	DSCAML1_ENST00000527706.1_Missense_Mutation_p.R545C	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	755	Ig-like C2-type 9.				axonogenesis (GO:0007409)|brain development (GO:0007420)|cell fate determination (GO:0001709)|central nervous system development (GO:0007417)|dendrite self-avoidance (GO:0070593)|dorsal/ventral pattern formation (GO:0009953)|embryonic skeletal system morphogenesis (GO:0048704)|homophilic cell adhesion (GO:0007156)|negative regulation of cell adhesion (GO:0007162)	cell surface (GO:0009986)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		AGGACGTGGCGGATCAGCAGC	0.607																																						ENST00000321322.6																			0				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110						c.(2443-2445)Cgc>Tgc		Down syndrome cell adhesion molecule like 1							110	91	97					11																	117374656		2201	4296	6497	SO:0001583	missense	57453				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity	g.chr11:117374656G>A		CCDS8384.1	11q22.2-q22.3	2013-02-11			ENSG00000177103	ENSG00000177103		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	14656	protein-coding gene	gene with protein product		611782				11453658	Standard	NM_020693		Approved	KIAA1132	uc001prh.1	Q8TD84	OTTHUMG00000167071	ENST00000321322.6:c.2443C>T	11.37:g.117374656G>A	ENSP00000315465:p.Arg815Cys					DSCAML1_ENST00000527706.1_Missense_Mutation_p.R545C	p.R815C	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)	11	2444	-	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)	755			Ig-like C2-type 9.		Q76MU9|Q8IZY3|Q8IZY4|Q8WXU7|Q9ULT7	Missense_Mutation	SNP	ENST00000321322.6	37	c.2443C>T	CCDS8384.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.192049	0.78902	.	.	ENSG00000177103	ENST00000527706;ENST00000321322;ENST00000446508	T;T	0.68479	-0.33;-0.33	4.29	4.29	0.51040	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.82944	0.5147	M	0.84433	2.695	0.80722	D	1	D	0.89917	1.0	D	0.70487	0.969	D	0.86461	0.1779	9	0.66056	D	0.02	.	16.9369	0.86205	0.0:0.0:1.0:0.0	.	755	Q8TD84	DSCL1_HUMAN	C	545;815;522	ENSP00000434335:R545C;ENSP00000315465:R815C	ENSP00000315465:R815C	R	-	1	0	DSCAML1	116879866	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.560000	0.53763	2.237000	0.73441	0.462000	0.41574	CGC		0.607	DSCAML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392907.2	NM_020693		7	124	0	0	0	1	0	7	124					A	117374656	G	A	117374656	3	1	246	1	0	0	0	0	1	0	0	0	4769	1116	39	2	3990	2	DSCAML1	11	117374656	Missense_Mutation	SNP	G	TCGA-HC-A6AP-01A-11D-A30E-08	28208699	117374656	17631860	31	11586											
STAT6	6778	broad.mit.edu	37	chr12	57493835	57493835	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	aggtccaggacaccatcaaaCcactgccaaaaggtgaagcc	15	4	9	13	0	1	1	1	1	0	0	2	2	2	2	5	3	3	0	5	3	4	0			TCGA-HC-A6AP-01A-11D-A30E-08	TCGA-HC-A6AP-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c224cf4-f1e6-4aa3-b08b-8d28cac6b2f6	574a6e8b-f27d-4fe5-8d21-6d0857077ac5	g.chr12:57493835C>A	ENST00000300134.3	-	14	1876	c.1551G>T	c.(1549-1551)tgG>tgT	p.W517C	STAT6_ENST00000543873.2_Missense_Mutation_p.W517C|STAT6_ENST00000538913.2_Missense_Mutation_p.W407C|STAT6_ENST00000537215.2_Missense_Mutation_p.W407C|STAT6_ENST00000454075.3_Missense_Mutation_p.W517C|STAT6_ENST00000556155.1_Missense_Mutation_p.W517C	NM_001178078.1|NM_003153.4	NP_001171549.1|NP_003144.3	P42226	STAT6_HUMAN	signal transducer and activator of transcription 6, interleukin-4 induced	517	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				cellular response to hydrogen peroxide (GO:0070301)|cellular response to reactive nitrogen species (GO:1902170)|innate immune response (GO:0045087)|interleukin-4-mediated signaling pathway (GO:0035771)|mammary gland epithelial cell proliferation (GO:0033598)|mammary gland morphogenesis (GO:0060443)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of type 2 immune response (GO:0002829)|positive regulation of isotype switching to IgE isotypes (GO:0048295)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of cell proliferation (GO:0042127)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|T-helper 1 cell lineage commitment (GO:0002296)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane raft (GO:0045121)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|protein phosphatase binding (GO:0019903)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(2)|lung(8)|ovary(4)|skin(1)	28						CACCATCAAACCACTGCCAAA	0.612																																						ENST00000300134.3																			0				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(2)|lung(8)|ovary(4)|skin(1)	28						c.(1549-1551)tgG>tgT		signal transducer and activator of transcription 6, interleukin-4 induced							81	63	69					12																	57493835		2203	4300	6503	SO:0001583	missense	6778				regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	calcium ion binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr12:57493835C>A	BC005823, BQ028928	CCDS8931.1, CCDS53804.1	12q13	2013-02-14				ENSG00000166888		"SH2 domain containing"	11368	protein-coding gene	gene with protein product		601512				9605853, 8085155	Standard	NM_003153		Approved	D12S1644, IL-4-STAT	uc001sna.3	P42226		ENST00000300134.3:c.1551G>T	12.37:g.57493835C>A	ENSP00000300134:p.Trp517Cys					STAT6_ENST00000543873.2_Missense_Mutation_p.W517C|STAT6_ENST00000538913.2_Missense_Mutation_p.W407C|STAT6_ENST00000537215.2_Missense_Mutation_p.W407C|STAT6_ENST00000556155.1_Missense_Mutation_p.W517C|STAT6_ENST00000454075.3_Missense_Mutation_p.W517C	p.W517C	NM_001178078.1|NM_003153.4	NP_001171549.1|NP_003144.3	P42226	STAT6_HUMAN			14	1876	-			517			SH2.		A8K316|B7ZA27|F5GXI9|Q5FBW5|Q71UP4	Missense_Mutation	SNP	ENST00000300134.3	37	c.1551G>T	CCDS8931.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	22.5|22.5	4.295523|4.295523	0.81025|0.81025	.|.	.|.	ENSG00000166888|ENSG00000166888	ENST00000553533|ENST00000300134;ENST00000535201;ENST00000538913;ENST00000543873;ENST00000556155;ENST00000537215;ENST00000454075;ENST00000542721;ENST00000542516;ENST00000555375	.|D;D;D;D;D;D;D	.|0.98602	.|-3.71;-3.71;-3.71;-3.71;-3.71;-3.71;-5.02	4.92|4.92	4.92|4.92	0.64577|0.64577	.|STAT transcription factor, DNA-binding (1);p53-like transcription factor, DNA-binding (1);SH2 motif (1);EF-hand-like domain (1);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.99026|0.99026	0.9667|0.9667	M|M	0.88181|0.88181	2.935|2.935	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.97110	.|0.996;1.0	D|D	0.99433|0.99433	1.0936|1.0936	5|10	.|0.87932	.|D	.|0	-11.0965|-11.0965	15.645|15.645	0.77042|0.77042	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|517;517	.|A8K4S9;P42226	.|.;STAT6_HUMAN	F|C	236|517;407;407;517;517;407;517;407;517;83	.|ENSP00000300134:W517C;ENSP00000445409:W407C;ENSP00000438451:W517C;ENSP00000451742:W517C;ENSP00000444530:W407C;ENSP00000401486:W517C;ENSP00000450921:W83C	.|ENSP00000300134:W517C	V|W	-|-	1|3	0|0	STAT6|STAT6	55780102|55780102	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.990000|0.990000	0.78478|0.78478	7.595000|7.595000	0.82710|0.82710	2.550000|2.550000	0.86006|0.86006	0.655000|0.655000	0.94253|0.94253	GTT|TGG		0.612	STAT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412248.3	NM_003153		3	24	1	0	0.115264	1	0.119239	3	24					A	57493835	C	A	57493835	3	1	246	1	0	0	0	0	1	0	0	0	15269	508	18	5	1028	5	STAT6	12	57493835	Missense_Mutation	SNP	C	TCGA-HC-A6AP-01A-11D-A30E-08		57493835	76358060	32	11587											
ALX1	8092	broad.mit.edu	37	chr12	85677423	85677423	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agagctatggacaactgtaaCagtctccgaatgtctcccgt	11	10	9	11	2	2	1	0	0	2	1	4	3	2	2	2	1	3	2	2	1	4	2			TCGA-HC-A6AP-01A-11D-A30E-08	TCGA-HC-A6AP-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c224cf4-f1e6-4aa3-b08b-8d28cac6b2f6	574a6e8b-f27d-4fe5-8d21-6d0857077ac5	g.chr12:85677423C>A	ENST00000316824.3	+	2	455	c.300C>A	c.(298-300)aaC>aaA	p.N100K		NM_006982.2	NP_008913.2	Q15699	ALX1_HUMAN	ALX homeobox 1	100					anterior/posterior pattern specification (GO:0009952)|brain development (GO:0007420)|cartilage condensation (GO:0001502)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal system morphogenesis (GO:0048704)|mesenchymal cell development (GO:0014031)|multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|palate development (GO:0060021)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|ovary(1)	26				GBM - Glioblastoma multiforme(134;0.134)		ACAACTGTAACAGTCTCCGAA	0.463																																						ENST00000316824.3																			0				breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|ovary(1)	26						c.(298-300)aaC>aaA		ALX homeobox 1							112	105	107					12																	85677423		2203	4300	6503	SO:0001583	missense	8092				brain development|cartilage condensation|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter		sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr12:85677423C>A	U31986	CCDS9028.1	12q21.31	2011-06-20	2007-07-26	2007-07-26		ENSG00000180318		"Homeoboxes / PRD class"	1494	protein-coding gene	gene with protein product		601527	"cartilage paired-class homeoprotein 1"	CART1		8756334, 7592751	Standard	NM_006982		Approved		uc001tae.4	Q15699	OTTHUMG00000169820	ENST00000316824.3:c.300C>A	12.37:g.85677423C>A	ENSP00000315417:p.Asn100Lys						p.N100K	NM_006982.2	NP_008913.2	Q15699	ALX1_HUMAN		GBM - Glioblastoma multiforme(134;0.134)	2	455	+			100					Q546C8|Q96FH4	Missense_Mutation	SNP	ENST00000316824.3	37	c.300C>A	CCDS9028.1	.	.	.	.	.	.	.	.	.	.	C	14.65	2.598784	0.46318	.	.	ENSG00000180318	ENST00000316824	D	0.91631	-2.88	5.62	4.73	0.59995	.	0.182769	0.64402	D	0.000013	T	0.81093	0.4751	N	0.08118	0	0.43977	D	0.99666	B	0.25609	0.13	B	0.21360	0.034	T	0.76751	-0.2844	10	0.06625	T	0.88	.	14.7188	0.69289	0.0:0.9301:0.0:0.0699	.	100	Q15699	ALX1_HUMAN	K	100	ENSP00000315417:N100K	ENSP00000315417:N100K	N	+	3	2	ALX1	84201554	1.000000	0.71417	0.998000	0.56505	0.989000	0.77384	1.785000	0.38684	1.495000	0.48549	0.650000	0.86243	AAC		0.463	ALX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406072.1	NM_006982		15	90	1	0	3.45872e-05	1	3.84302e-05	15	90					A	85677423	C	A	85677423	3	1	246	1	0	0	0	0	1	0	0	0	556	477	17	5	306	5	ALX1	12	85677423	Missense_Mutation	SNP	C	TCGA-HC-A6AP-01A-11D-A30E-08	28183588	85677423	48174472	33	11588											
FOXA1	3169	broad.mit.edu	37	chr14	38061192	38061192	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccggctgcttctcgcacttgAagcgcttctggcggcgcaag	5	9	13	14	5	2	1	0	1	2	0	3	1	2	1	1	3	2	5	1	3	2	3			TCGA-HC-A6AP-01A-11D-A30E-08	TCGA-HC-A6AP-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c224cf4-f1e6-4aa3-b08b-8d28cac6b2f6	574a6e8b-f27d-4fe5-8d21-6d0857077ac5	g.chr14:38061192A>C	ENST00000250448.2	-	2	858	c.797T>G	c.(796-798)tTc>tGc	p.F266C	FOXA1_ENST00000545425.2_5'UTR|FOXA1_ENST00000540786.1_Missense_Mutation_p.F233C	NM_004496.3	NP_004487.2	P55317	FOXA1_HUMAN	forkhead box A1	266					anatomical structure formation involved in morphogenesis (GO:0048646)|chromatin remodeling (GO:0006338)|dorsal/ventral neural tube patterning (GO:0021904)|epithelial cell maturation involved in prostate gland development (GO:0060743)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|epithelial-mesenchymal signaling involved in prostate gland development (GO:0060738)|glucose homeostasis (GO:0042593)|hormone metabolic process (GO:0042445)|lung epithelial cell differentiation (GO:0060487)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron fate specification (GO:0048665)|positive regulation of cell-cell adhesion mediated by cadherin (GO:2000049)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prostate gland epithelium morphogenesis (GO:0060740)|prostate gland stromal morphogenesis (GO:0060741)|response to estradiol (GO:0032355)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)	microvillus (GO:0005902)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|endometrium(1)|large_intestine(2)|lung(3)|prostate(12)	19	Breast(36;0.0954)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		Lung(238;5.41e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0454)|LUSC - Lung squamous cell carcinoma(13;0.0917)|all cancers(34;0.0925)|BRCA - Breast invasive adenocarcinoma(188;0.239)	GBM - Glioblastoma multiforme(112;0.0222)		CTCGCACTTGAAGCGCTTCTG	0.726																																						ENST00000250448.2																			0				breast(1)|endometrium(1)|large_intestine(2)|lung(3)|prostate(12)	19						c.(796-798)tTc>tGc		forkhead box A1							10	11	10					14																	38061192		2193	4281	6474	SO:0001583	missense	3169				chromatin remodeling|embryo development|epithelial cell maturation involved in prostate gland development|epithelial tube branching involved in lung morphogenesis|epithelial-mesenchymal signaling involved in prostate gland development|glucose homeostasis|lung epithelial cell differentiation|negative regulation of survival gene product expression|neuron fate specification|pattern specification process|positive regulation of estrogen receptor signaling pathway|positive regulation of mitotic cell cycle|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|prostate gland epithelium morphogenesis|prostate gland stromal morphogenesis|response to estradiol stimulus|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development	transcription factor complex	DNA bending activity|double-stranded DNA binding|protein domain specific binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding	g.chr14:38061192A>C	U39840	CCDS9665.1	14q12-q13	2008-04-10		2002-09-20	ENSG00000129514	ENSG00000129514		"Forkhead boxes"	5021	protein-coding gene	gene with protein product		602294	"hepatocyte nuclear factor 3, alpha"	HNF3A		9119385, 8652662	Standard	NM_004496		Approved		uc001wuf.4	P55317	OTTHUMG00000140253	ENST00000250448.2:c.797T>G	14.37:g.38061192A>C	ENSP00000250448:p.Phe266Cys					FOXA1_ENST00000545425.2_5'UTR|FOXA1_ENST00000540786.1_Missense_Mutation_p.F233C	p.F266C	NM_004496.3	NP_004487.2	P55317	FOXA1_HUMAN	Lung(238;5.41e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0454)|LUSC - Lung squamous cell carcinoma(13;0.0917)|all cancers(34;0.0925)|BRCA - Breast invasive adenocarcinoma(188;0.239)	GBM - Glioblastoma multiforme(112;0.0222)	2	858	-	Breast(36;0.0954)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		266					B2R9H6|B7ZAP5|Q9H2A0	Missense_Mutation	SNP	ENST00000250448.2	37	c.797T>G	CCDS9665.1	.	.	.	.	.	.	.	.	.	.	A	22.0	4.227626	0.79576	.	.	ENSG00000129514	ENST00000250448;ENST00000540786	D;D	0.93953	-3.32;-3.32	3.92	3.92	0.45320	.	0.000000	0.85682	D	0.000000	D	0.93615	0.7961	L	0.29908	0.895	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.94012	0.7285	10	0.87932	D	0	.	11.8486	0.52399	1.0:0.0:0.0:0.0	.	266	P55317	FOXA1_HUMAN	C	266;233	ENSP00000250448:F266C;ENSP00000440178:F233C	ENSP00000250448:F266C	F	-	2	0	FOXA1	37130943	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	8.885000	0.92439	1.648000	0.50643	0.329000	0.21502	TTC		0.726	FOXA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276735.1			8	31	0	0	0	1	0	8	31					C	38061192	A	C	38061192	3	2	246	1	0	0	0	0	1	0	0	0	5989	246	9	5	625	5	FOXA1	14	38061192	Missense_Mutation	SNP	A	TCGA-HC-A6AP-01A-11D-A30E-08		38061192	69288348	34	11589											
SNW1	22938	broad.mit.edu	37	chr14	78205133	78205133	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	attcataccggatatactgaGcaggagccaatttgtcagct	12	11	9	9	1	2	1	2	1	0	0	2	3	2	3	2	2	5	2	2	2	4	5			TCGA-HC-A6AP-01A-11D-A30E-08	TCGA-HC-A6AP-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c224cf4-f1e6-4aa3-b08b-8d28cac6b2f6	574a6e8b-f27d-4fe5-8d21-6d0857077ac5	g.chr14:78205133G>A	ENST00000261531.7	-	5	583	c.521C>T	c.(520-522)gCt>gTt	p.A174V	SNW1_ENST00000554775.1_Missense_Mutation_p.A12V|SNW1_ENST00000555761.1_Missense_Mutation_p.A174V|SLIRP_ENST00000557431.1_Intron	NM_012245.2	NP_036377.1	Q13573	SNW1_HUMAN	SNW domain containing 1	174	SNW.				cellular response to retinoic acid (GO:0071300)|gene expression (GO:0010467)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of mRNA splicing, via spliceosome (GO:0048026)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|positive regulation of vitamin D receptor signaling pathway (GO:0070564)|regulation of retinoic acid receptor signaling pathway (GO:0048385)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of vitamin D receptor signaling pathway (GO:0070562)|retinoic acid receptor signaling pathway (GO:0048384)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	catalytic step 2 spliceosome (GO:0071013)|chromatin (GO:0000785)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	Notch binding (GO:0005112)|nuclear hormone receptor binding (GO:0035257)|poly(A) RNA binding (GO:0044822)|retinoic acid receptor binding (GO:0042974)|SMAD binding (GO:0046332)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|vitamin D receptor binding (GO:0042809)			NS(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0291)		GATATACTGAGCAGGAGCCAA	0.438																																						ENST00000261531.7																			0				NS(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24						c.(520-522)gCt>gTt		SNW domain containing 1							69	68	68					14																	78205133		2203	4300	6503	SO:0001583	missense	22938				negative regulation of transcription, DNA-dependent|nuclear mRNA splicing, via spliceosome|regulation of transcription from RNA polymerase II promoter	catalytic step 2 spliceosome|nucleoplasm	Notch binding	g.chr14:78205133G>A	AF045184	CCDS9867.1	14q22.1-q22.3	2005-09-13	2005-09-13	2005-09-13		ENSG00000100603			16696	protein-coding gene	gene with protein product		603055	"SKI interacting protein"	SKIIP		8973337, 9632709	Standard	NM_012245		Approved	NCoA-62, SKIP, Prp45, PRPF45, Bx42	uc001xuf.3	Q13573		ENST00000261531.7:c.521C>T	14.37:g.78205133G>A	ENSP00000261531:p.Ala174Val					SLIRP_ENST00000557431.1_Intron|SNW1_ENST00000555761.1_Missense_Mutation_p.A174V|SNW1_ENST00000554775.1_Missense_Mutation_p.A12V	p.A174V	NM_012245.2	NP_036377.1	Q13573	SNW1_HUMAN	Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0291)	5	583	-			174			SNW.		A8K8A9|Q13483|Q32N03|Q5D0D6	Missense_Mutation	SNP	ENST00000261531.7	37	c.521C>T	CCDS9867.1	.	.	.	.	.	.	.	.	.	.	G	25.2	4.611211	0.87258	.	.	ENSG00000100603	ENST00000261531;ENST00000554775;ENST00000555761;ENST00000416259	.	.	.	5.81	4.91	0.64330	.	0.044636	0.85682	D	0.000000	T	0.66645	0.2810	L	0.56340	1.77	0.80722	D	1	P;P	0.50369	0.652;0.934	P;P	0.57152	0.55;0.814	T	0.63866	-0.6540	9	0.38643	T	0.18	.	15.2988	0.73931	0.0683:0.0:0.9317:0.0	.	174;174	G3V3A4;Q13573	.;SNW1_HUMAN	V	174;12;174;174	.	ENSP00000261531:A174V	A	-	2	0	SNW1	77274886	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.375000	0.97178	2.758000	0.94735	0.460000	0.39030	GCT		0.438	SNW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413912.1	NM_012245		5	45	0	0	0	1	0	5	45					A	78205133	G	A	78205133	3	1	246	1	0	0	0	0	1	0	0	0	14879	971	34	3	1129	3	SNW1	14	78205133	Missense_Mutation	SNP	G	TCGA-HC-A6AP-01A-11D-A30E-08	40143941	78205133	29144407	35	11590											
UBE3A	7337	broad.mit.edu	37	chr15	25616254	25616254	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	catcatcattcactagatttCgactgttaaattcattgctt	11	17	4	9	1	4	1	4	0	0	1	5	2	4	1	0	0	1	2	0	0	3	7			TCGA-HC-A6AP-01A-11D-A30E-08	TCGA-HC-A6AP-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c224cf4-f1e6-4aa3-b08b-8d28cac6b2f6	574a6e8b-f27d-4fe5-8d21-6d0857077ac5	g.chr15:25616254C>T	ENST00000397954.2	-	4	1075	c.1076G>A	c.(1075-1077)cGa>cAa	p.R359Q	UBE3A_ENST00000232165.3_Missense_Mutation_p.R356Q|UBE3A_ENST00000438097.1_Missense_Mutation_p.R336Q|SNHG14_ENST00000554726.1_RNA|UBE3A_ENST00000566215.1_Missense_Mutation_p.R336Q|UBE3A_ENST00000428984.2_Missense_Mutation_p.R336Q			Q05086	UBE3A_HUMAN	ubiquitin protein ligase E3A	359				R -> RNLVNEFNSR (in Ref. 7; AA sequence). {ECO:0000305}.	androgen receptor signaling pathway (GO:0030521)|brain development (GO:0007420)|ovarian follicle development (GO:0001541)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prostate gland growth (GO:0060736)|protein autoubiquitination (GO:0051865)|protein K48-linked ubiquitination (GO:0070936)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|proteolysis (GO:0006508)|sperm entry (GO:0035037)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|proteasome complex (GO:0000502)	ligase activity (GO:0016874)|transcription coactivator activity (GO:0003713)|ubiquitin-protein transferase activity (GO:0004842)	p.R359Q(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(13)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	38		all_cancers(20;3.47e-21)|Breast(32;0.00123)		all cancers(64;2.78e-08)|Epithelial(43;8.85e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0155)|Lung(196;0.0616)		CACTAGATTTCGACTGTTAAA	0.383																																						ENST00000232165.3																			1	Substitution - Missense(1)	p.R359Q(1)	large_intestine(1)	breast(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(13)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	38						c.(1066-1068)cGa>cAa		ubiquitin protein ligase E3A							111	107	108					15																	25616254		2203	4300	6503	SO:0001583	missense	7337				brain development|interspecies interaction between organisms|protein K48-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus|proteasome complex	protein binding|ubiquitin-protein ligase activity	g.chr15:25616254C>T	AF002224	CCDS32177.1, CCDS45191.1, CCDS45192.1	15q11.2	2014-09-17	2008-07-31		ENSG00000114062	ENSG00000114062	6.3.2.19		12496	protein-coding gene	gene with protein product	"Angelman syndrome"	601623	"human papilloma virus E6-associated protein"	EPVE6AP, HPVE6A		8221889	Standard	NM_130838		Approved	AS, ANCR, E6-AP, FLJ26981	uc001zas.3	Q05086		ENST00000397954.2:c.1076G>A	15.37:g.25616254C>T	ENSP00000381045:p.Arg359Gln					SNHG14_ENST00000554726.1_RNA|UBE3A_ENST00000438097.1_Missense_Mutation_p.R336Q|UBE3A_ENST00000566215.1_Missense_Mutation_p.R336Q|UBE3A_ENST00000397954.2_Missense_Mutation_p.R359Q|UBE3A_ENST00000428984.2_Missense_Mutation_p.R336Q	p.R356Q	NM_000462.3|NM_130839.2	NP_000453.2|NP_570854.1	Q05086	UBE3A_HUMAN		all cancers(64;2.78e-08)|Epithelial(43;8.85e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0155)|Lung(196;0.0616)	6	1723	-		all_cancers(20;3.47e-21)|Breast(32;0.00123)	359					A8K8Z9|P78355|Q93066|Q9UEP4|Q9UEP5|Q9UEP6|Q9UEP7|Q9UEP8|Q9UEP9	Missense_Mutation	SNP	ENST00000397954.2	37	c.1067G>A	CCDS45192.1	.	.	.	.	.	.	.	.	.	.	C	11.52	1.663848	0.29515	.	.	ENSG00000114062	ENST00000232165;ENST00000356465;ENST00000397954;ENST00000438097;ENST00000428984	T;T;T;T	0.17691	2.26;2.26;2.27;2.27	5.73	5.73	0.89815	.	0.120739	0.56097	D	0.000031	T	0.11281	0.0275	N	0.22421	0.69	0.58432	D	0.999995	P;B	0.46020	0.871;0.226	B;B	0.34180	0.177;0.048	T	0.18713	-1.0328	10	0.12103	T	0.63	.	19.907	0.97012	0.0:1.0:0.0:0.0	.	356;359	Q05086-3;Q05086	.;UBE3A_HUMAN	Q	356;356;359;336;336	ENSP00000232165:R356Q;ENSP00000381045:R359Q;ENSP00000411258:R336Q;ENSP00000401265:R336Q	ENSP00000232165:R356Q	R	-	2	0	UBE3A	23167347	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	5.956000	0.70315	2.718000	0.92993	0.585000	0.79938	CGA		0.383	UBE3A-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000434203.1	NM_000462		4	141	0	0	0	1	0	4	141					T	25616254	C	T	25616254	3	4	246	1	0	0	0	0	1	0	0	0	16876	884	31	2	1583	2	UBE3A	15	25616254	Missense_Mutation	SNP	C	TCGA-HC-A6AP-01A-11D-A30E-08		25616254	76915138	36	11591											
HERC1	8925	broad.mit.edu	37	chr15	64047508	64047508	+	Nonsense_Mutation	SNP	G	G	C																															cactatgtctgtatccagctGacacacaaacaactacctgc																										TCGA-HC-A6AP-01A-11D-A30E-08	TCGA-HC-A6AP-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c224cf4-f1e6-4aa3-b08b-8d28cac6b2f6	574a6e8b-f27d-4fe5-8d21-6d0857077ac5	g.chr15:64047508G>C	ENST00000443617.2	-	6	1637	c.1550C>G	c.(1549-1551)tCa>tGa	p.S517*		NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	517					cerebellar Purkinje cell differentiation (GO:0021702)|negative regulation of autophagy (GO:0010507)|neuromuscular process controlling balance (GO:0050885)|neuron projection development (GO:0031175)|positive regulation of GTPase activity (GO:0043547)|transport (GO:0006810)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						GTATCCAGCTGACACACAAAC	0.388																																						ENST00000443617.2																			0				NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						c.(1549-1551)tCa>tGa		HECT and RLD domain containing E3 ubiquitin protein ligase family member 1							85	80	82					15																	64047508		1986	4161	6147	SO:0001587	stop_gained	8925				protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity	g.chr15:64047508G>C	U50078	CCDS45277.1	15q22	2013-01-10	2012-02-23			ENSG00000103657		"WD repeat domain containing"	4867	protein-coding gene	gene with protein product		605109	"hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 1"			8861955, 9233772	Standard	NM_003922		Approved	p532, p619	uc002amp.3	Q15751		ENST00000443617.2:c.1550C>G	15.37:g.64047508G>C	ENSP00000390158:p.Ser517*						p.S517*	NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN			6	1637	-			517					Q8IW65	Nonsense_Mutation	SNP	ENST00000443617.2	37	c.1550C>G	CCDS45277.1	.	.	.	.	.	.	.	.	.	.	G	39	7.542359	0.98348	.	.	ENSG00000103657	ENST00000443617	.	.	.	5.97	5.97	0.96955	.	0.000000	0.64402	U	0.000007	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	20.0492	0.97617	0.0:0.0:1.0:0.0	.	.	.	.	X	517	.	ENSP00000390158:S517X	S	-	2	0	HERC1	61834561	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.869000	0.99810	2.836000	0.97738	0.655000	0.94253	TCA		0.388	HERC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418523.1	NM_003922		6	25	0	0	0	1	0	6	25					C	64047508	G	C	64047508	4	2	246	1	0	0	0	0	0	1	0	0	7057	1294	45	5	13327	5	HERC1	15	64047508	Nonsense_Mutation	SNP	G	TCGA-HC-A6AP-01A-11D-A30E-08	38431254	64047508	38483884	37	11592	62	2									
HERC1	8925	broad.mit.edu	37	chr15	64047509	64047509	+	Missense_Mutation	SNP	A	A	G																															actatgtctgtatccagctgAcacacaaacaactacctgca																										TCGA-HC-A6AP-01A-11D-A30E-08	TCGA-HC-A6AP-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c224cf4-f1e6-4aa3-b08b-8d28cac6b2f6	574a6e8b-f27d-4fe5-8d21-6d0857077ac5	g.chr15:64047509A>G	ENST00000443617.2	-	6	1636	c.1549T>C	c.(1549-1551)Tca>Cca	p.S517P		NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	517					cerebellar Purkinje cell differentiation (GO:0021702)|negative regulation of autophagy (GO:0010507)|neuromuscular process controlling balance (GO:0050885)|neuron projection development (GO:0031175)|positive regulation of GTPase activity (GO:0043547)|transport (GO:0006810)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						TATCCAGCTGACACACAAACA	0.388																																						ENST00000443617.2																			0				NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						c.(1549-1551)Tca>Cca		HECT and RLD domain containing E3 ubiquitin protein ligase family member 1							85	81	82					15																	64047509		1989	4159	6148	SO:0001583	missense	8925				protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity	g.chr15:64047509A>G	U50078	CCDS45277.1	15q22	2013-01-10	2012-02-23			ENSG00000103657		"WD repeat domain containing"	4867	protein-coding gene	gene with protein product		605109	"hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 1"			8861955, 9233772	Standard	NM_003922		Approved	p532, p619	uc002amp.3	Q15751		ENST00000443617.2:c.1549T>C	15.37:g.64047509A>G	ENSP00000390158:p.Ser517Pro						p.S517P	NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN			6	1636	-			517					Q8IW65	Missense_Mutation	SNP	ENST00000443617.2	37	c.1549T>C	CCDS45277.1	.	.	.	.	.	.	.	.	.	.	A	32	5.188980	0.94923	.	.	ENSG00000103657	ENST00000443617	D	0.86497	-2.13	5.97	5.97	0.96955	Regulator of chromosome condensation/beta-lactamase-inhibitor protein II (2);	0.000000	0.64402	U	0.000007	D	0.95749	0.8617	H	0.95982	3.75	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.83275	0.993;0.996	D	0.96943	0.9689	10	0.72032	D	0.01	.	16.1343	0.81471	1.0:0.0:0.0:0.0	.	517;517	C9JUT5;Q15751	.;HERC1_HUMAN	P	517	ENSP00000390158:S517P	ENSP00000390158:S517P	S	-	1	0	HERC1	61834562	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.339000	0.96797	2.288000	0.76882	0.533000	0.62120	TCA		0.388	HERC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418523.1	NM_003922		6	24	0	0	0	1	0	6	24					G	64047509	A	G	64047509	3	3	246	1	0	0	0	0	1	0	0	0	7057	275	10	4	13328	4	HERC1	15	64047509	Missense_Mutation	SNP	A	TCGA-HC-A6AP-01A-11D-A30E-08	1	64047509	38483883	38	11593	62	2									
NETO2	81831	broad.mit.edu	37	chr16	47156656	47156656	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cttgttctacctgactagagCgcactattccatcagctccc	8	12	6	15	1	2	2	1	1	1	1	4	2	4	2	3	0	3	3	3	0	3	6			TCGA-HC-A6AP-01A-11D-A30E-08	TCGA-HC-A6AP-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c224cf4-f1e6-4aa3-b08b-8d28cac6b2f6	574a6e8b-f27d-4fe5-8d21-6d0857077ac5	g.chr16:47156656C>A	ENST00000562435.1	-	6	950	c.566G>T	c.(565-567)cGc>cTc	p.R189L	NETO2_ENST00000303155.5_Missense_Mutation_p.R182L|snoU13_ENST00000458876.1_RNA	NM_018092.4	NP_060562.3	Q8NC67	NETO2_HUMAN	neuropilin (NRP) and tolloid (TLL)-like 2	189	CUB 2. {ECO:0000255|PROSITE- ProRule:PRU00059}.				regulation of kainate selective glutamate receptor activity (GO:2000312)	kainate selective glutamate receptor complex (GO:0032983)|postsynaptic density (GO:0014069)				breast(1)|cervix(1)|endometrium(1)|large_intestine(8)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	29		all_cancers(37;0.00114)|all_lung(18;0.00432)|Lung NSC(13;0.0384)|Breast(268;0.174)				CTGACTAGAGCGCACTATTCC	0.428										HNSCC(25;0.065)																												ENST00000562435.1																			0				breast(1)|cervix(1)|endometrium(1)|large_intestine(8)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	29						c.(565-567)cGc>cTc		neuropilin (NRP) and tolloid (TLL)-like 2							161	132	141					16																	47156656		2203	4300	6503	SO:0001583	missense	81831					integral to membrane	receptor activity	g.chr16:47156656C>A	AK001292	CCDS10727.1, CCDS58460.1	16q11.2	2008-08-04			ENSG00000171208	ENSG00000171208			14644	protein-coding gene	gene with protein product		607974				11943477	Standard	NM_018092		Approved	FLJ10430, NEOT2	uc002eer.2	Q8NC67	OTTHUMG00000133101	ENST00000562435.1:c.566G>T	16.37:g.47156656C>A	ENSP00000455169:p.Arg189Leu	HNSCC(25;0.065)				NETO2_ENST00000303155.5_Missense_Mutation_p.R182L	p.R189L	NM_018092.4	NP_060562.3	Q8NC67	NETO2_HUMAN			6	950	-		all_cancers(37;0.00114)|all_lung(18;0.00432)|Lung NSC(13;0.0384)|Breast(268;0.174)	189			CUB 2.		J3KNF1|Q7Z381|Q8ND51|Q96SP4|Q9NVY8	Missense_Mutation	SNP	ENST00000562435.1	37	c.566G>T	CCDS10727.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.193087	0.78902	.	.	ENSG00000171208	ENST00000303155	.	.	.	5.64	4.69	0.59074	CUB (5);	0.051088	0.85682	N	0.000000	T	0.71921	0.3397	L	0.53249	1.67	0.80722	D	1	P;P;P	0.52842	0.796;0.911;0.956	P;P;P	0.57846	0.617;0.793;0.828	T	0.75230	-0.3391	9	0.66056	D	0.02	.	16.0457	0.80720	0.1352:0.8648:0.0:0.0	.	46;182;189	B7Z4I7;Q32NC3;Q8NC67	.;.;NETO2_HUMAN	L	189	.	ENSP00000306726:R189L	R	-	2	0	NETO2	45714157	1.000000	0.71417	0.663000	0.29738	0.808000	0.45660	4.728000	0.62000	1.378000	0.46305	-0.175000	0.13238	CGC		0.428	NETO2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256766.2	NM_018092		4	147	1	0	3.59834e-05	1	3.92546e-05	4	147					A	47156656	C	A	47156656	3	1	246	1	0	0	0	0	1	0	0	0	10340	768	27	5	1027	5	NETO2	16	47156656	Missense_Mutation	SNP	C	TCGA-HC-A6AP-01A-11D-A30E-08		47156656	43198097	39	11594											
DHODH	1723	broad.mit.edu	37	chr16	72057375	72057375	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatgtgcttctctgtaggcCgagttcccataattggggtt	6	14	11	10	1	1	0	0	0	1	0	3	1	2	0	3	3	1	4	3	3	2	6			TCGA-HC-A6AP-01A-11D-A30E-08	TCGA-HC-A6AP-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c224cf4-f1e6-4aa3-b08b-8d28cac6b2f6	574a6e8b-f27d-4fe5-8d21-6d0857077ac5	g.chr16:72057375C>T	ENST00000219240.4	+	8	997	c.976C>T	c.(976-978)Cga>Tga	p.R326*	DHODH_ENST00000572887.1_Intron	NM_001361.4	NP_001352.2	Q02127	PYRD_HUMAN	dihydroorotate dehydrogenase (quinone)	326					'de novo' pyrimidine nucleobase biosynthetic process (GO:0006207)|'de novo' UMP biosynthetic process (GO:0044205)|female pregnancy (GO:0007565)|lactation (GO:0007595)|nucleobase-containing small molecule metabolic process (GO:0055086)|positive regulation of apoptotic process (GO:0043065)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside biosynthetic process (GO:0046134)|regulation of mitochondrial fission (GO:0090140)|response to caffeine (GO:0031000)|response to drug (GO:0042493)|response to starvation (GO:0042594)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|neuronal cell body (GO:0043025)	dihydroorotate dehydrogenase activity (GO:0004152)|dihydroorotate oxidase activity (GO:0004158)|drug binding (GO:0008144)|FMN binding (GO:0010181)|ubiquinone binding (GO:0048039)			breast(1)|endometrium(2)|large_intestine(4)|ovary(1)|skin(1)|stomach(1)	10		Ovarian(137;0.125)			Atovaquone(DB01117)|Leflunomide(DB01097)|Teriflunomide(DB08880)	CTCTGTAGGCCGAGTTCCCAT	0.577																																						ENST00000219240.4																			0				breast(1)|endometrium(2)|large_intestine(4)|ovary(1)|skin(1)|stomach(1)	10						c.(976-978)Cga>Tga		dihydroorotate dehydrogenase (quinone)	Atovaquone(DB01117)|Leflunomide(DB01097)						66	74	72					16																	72057375		2074	4216	6290	SO:0001587	stop_gained	1723				'de novo' pyrimidine base biosynthetic process|pyrimidine nucleoside biosynthetic process|UMP biosynthetic process	integral to membrane|mitochondrial inner membrane	dihydroorotate oxidase activity	g.chr16:72057375C>T		CCDS42192.1	16q22.2	2012-10-02	2011-09-05		ENSG00000102967	ENSG00000102967	1.3.5.2		2867	protein-coding gene	gene with protein product		126064	"dihydroorotate dehydrogenase"			8211381	Standard	NM_001361		Approved		uc002fbp.3	Q02127	OTTHUMG00000178093	ENST00000219240.4:c.976C>T	16.37:g.72057375C>T	ENSP00000219240:p.Arg326*					DHODH_ENST00000572887.1_Intron	p.R326*	NM_001361.4	NP_001352.2	Q02127	PYRD_HUMAN			8	997	+		Ovarian(137;0.125)	326					A8K8C8|Q6P176	Nonsense_Mutation	SNP	ENST00000219240.4	37	c.976C>T	CCDS42192.1	.	.	.	.	.	.	.	.	.	.	C	12.40	1.926329	0.34002	.	.	ENSG00000102967	ENST00000219240	.	.	.	5.48	0.23	0.15372	.	0.248923	0.45361	D	0.000369	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.25106	T	0.35	-0.0094	10.0889	0.42434	0.4443:0.4831:0.0726:0.0	.	.	.	.	X	326	.	ENSP00000219240:R326X	R	+	1	2	DHODH	70614876	0.939000	0.31865	0.440000	0.26846	0.332000	0.28634	1.784000	0.38674	0.106000	0.17784	-0.397000	0.06425	CGA		0.577	DHODH-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_001361		4	106	0	0	0	1	0	4	106					T	72057375	C	T	72057375	4	4	246	1	0	0	0	0	0	1	0	0	4484	644	23	2	1006	2	DHODH	16	72057375	Nonsense_Mutation	SNP	C	TCGA-HC-A6AP-01A-11D-A30E-08	24900719	72057375	18297378	40	11595											
DPH1	1801	broad.mit.edu	37	chr17	1943642	1943642	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttattctgggcactttgggcCgccagggcagtcctaagatc	7	11	12	11	1	1	1	0	0	1	1	3	1	2	1	3	3	0	2	3	3	2	4			TCGA-HC-A6AP-01A-11D-A30E-08	TCGA-HC-A6AP-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c224cf4-f1e6-4aa3-b08b-8d28cac6b2f6	574a6e8b-f27d-4fe5-8d21-6d0857077ac5	g.chr17:1943642C>T	ENST00000263083.6	+	8	940	c.895C>T	c.(895-897)Cgc>Tgc	p.R299C	OVCA2_ENST00000572195.1_5'Flank|DPH1_ENST00000570477.1_Missense_Mutation_p.R219C|RP11-667K14.4_ENST00000572404.1_RNA	NM_001383.3	NP_001374.3	Q9BZG8	DPH1_HUMAN	diphthamide biosynthesis 1	299					cell proliferation (GO:0008283)|peptidyl-diphthamide biosynthetic process from peptidyl-histidine (GO:0017183)|translation (GO:0006412)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(3)|large_intestine(2)|lung(6)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	17						CACTTTGGGCCGCCAGGGCAG	0.597																																						ENST00000263083.6																			0				endometrium(3)|large_intestine(2)|lung(6)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	17						c.(895-897)Cgc>Tgc		diphthamide biosynthesis 1							50	51	50					17																	1943642		1949	4158	6107	SO:0001583	missense	1801				peptidyl-diphthamide biosynthetic process from peptidyl-histidine|translation	cytoplasm|nucleus		g.chr17:1943642C>T	S81752	CCDS42228.1	17p13.3	2013-05-02	2013-05-02	2005-06-03	ENSG00000108963	ENSG00000108963			3003	protein-coding gene	gene with protein product	"ovarian tumor suppressor candidate 1"	603527	"diptheria toxin resistance protein required for diphthamide biosynthesis-like 1 (S. cerevisiae)", "DPH-like 1 (S. cerevisiae)", "DPH1 homolog (S. cerevisiae)"	DPH2L, DPH2L1		8603384, 15485916, 22869748	Standard	NM_001383		Approved	OVCA1	uc002fts.3	Q9BZG8	OTTHUMG00000177724	ENST00000263083.6:c.895C>T	17.37:g.1943642C>T	ENSP00000263083:p.Arg299Cys					DPH1_ENST00000570477.1_Missense_Mutation_p.R219C	p.R299C	NM_001383.3	NP_001374.3	Q9BZG8	DPH1_HUMAN			8	940	+			299					D3DTI3|Q16439|Q4VBA2|Q9BTW7|Q9UCY0	Missense_Mutation	SNP	ENST00000263083.6	37	c.895C>T	CCDS42228.1	.	.	.	.	.	.	.	.	.	.	C	28.3	4.910918	0.92178	.	.	ENSG00000108963	ENST00000263083	T	0.50813	0.73	5.12	5.12	0.69794	.	0.000000	0.85682	D	0.000000	T	0.77177	0.4092	M	0.93375	3.41	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.993;0.997;0.993	D	0.84027	0.0357	10	0.87932	D	0	-16.2111	17.1373	0.86743	0.0:1.0:0.0:0.0	.	309;309;299	E7ENH3;B4DNK0;Q9BZG8	.;.;DPH1_HUMAN	C	299	ENSP00000263083:R299C	ENSP00000263083:R299C	R	+	1	0	DPH1	1890392	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	1.767000	0.38501	2.380000	0.81148	0.491000	0.48974	CGC		0.597	DPH1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000438660.1	NM_001383		8	109	0	0	0	1	0	8	109					T	1943642	C	T	1943642	3	4	246	1	0	0	0	0	1	0	0	0	4719	652	23	2	925	2	DPH1	17	1943642	Missense_Mutation	SNP	C	TCGA-HC-A6AP-01A-11D-A30E-08		1943642	79251568	41	11596											
SPOP	8405	broad.mit.edu	37	chr17	47696424	47696424	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tctctacggatgaatttcttGaatccccagtctttgccttg	7	16	7	11	1	3	2	0	2	3	0	5	3	4	3	3	1	2	0	3	1	3	5	rs193921065		TCGA-HC-A6AP-01A-11D-A30E-08	TCGA-HC-A6AP-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c224cf4-f1e6-4aa3-b08b-8d28cac6b2f6	574a6e8b-f27d-4fe5-8d21-6d0857077ac5	g.chr17:47696424G>C	ENST00000393328.2	-	6	764	c.399C>G	c.(397-399)ttC>ttG	p.F133L	SPOP_ENST00000503676.1_Missense_Mutation_p.F133L|SPOP_ENST00000393331.3_Missense_Mutation_p.F133L|SPOP_ENST00000504102.1_Missense_Mutation_p.F133L|SPOP_ENST00000513080.1_5'Flank|SPOP_ENST00000347630.2_Missense_Mutation_p.F133L	NM_003563.3	NP_003554.1	O43791	SPOP_HUMAN	speckle-type POZ protein	133	Important for binding substrate proteins.|MATH. {ECO:0000255|PROSITE- ProRule:PRU00129}.|Required for nuclear localization.				glucose homeostasis (GO:0042593)|positive regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902237)|positive regulation of type B pancreatic cell apoptotic process (GO:2000676)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	Cul3-RING ubiquitin ligase complex (GO:0031463)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	ubiquitin protein ligase binding (GO:0031625)	p.F133L(7)		endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						TGAATTTCTTGAATCCCCAGT	0.448										Prostate(2;0.17)																												ENST00000393331.3																			7	Substitution - Missense(7)	p.F133L(7)	prostate(7)	endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						c.(397-399)ttC>ttG		speckle-type POZ protein							118	120	119					17																	47696424		2203	4300	6503	SO:0001583	missense	8405				mRNA processing	nucleus	protein binding	g.chr17:47696424G>C	AJ000644	CCDS11551.1	17q21.33	2013-01-09			ENSG00000121067	ENSG00000121067		"BTB/POZ domain containing"	11254	protein-coding gene	gene with protein product		602650				9414087	Standard	NM_001007227		Approved	TEF2, BTBD32	uc002ipg.3	O43791	OTTHUMG00000161496	ENST00000393328.2:c.399C>G	17.37:g.47696424G>C	ENSP00000377001:p.Phe133Leu	Prostate(2;0.17)				SPOP_ENST00000393328.2_Missense_Mutation_p.F133L|SPOP_ENST00000347630.2_Missense_Mutation_p.F133L|SPOP_ENST00000504102.1_Missense_Mutation_p.F133L|SPOP_ENST00000503676.1_Missense_Mutation_p.F133L	p.F133L	NM_001007226.1|NM_001007227.1	NP_001007227.1|NP_001007228.1	O43791	SPOP_HUMAN			7	869	-			133			MATH.|Required for nuclear localization.		B2R6S3|D3DTW7|Q53HJ1	Missense_Mutation	SNP	ENST00000393328.2	37	c.399C>G	CCDS11551.1	.	.	.	.	.	.	.	.	.	.	G	19.95	3.921613	0.73213	.	.	ENSG00000121067	ENST00000393328;ENST00000393331;ENST00000347630;ENST00000504102;ENST00000503536;ENST00000503676;ENST00000513872;ENST00000509079;ENST00000505581;ENST00000507970;ENST00000514121	T;T;T;T;T;T;T;T;T	0.41758	0.99;0.99;0.99;0.99;0.99;0.99;0.99;0.99;0.99	5.41	4.33	0.51752	TRAF-type (1);TRAF-like (1);MATH (3);	0.000000	0.85682	D	0.000000	T	0.58722	0.2142	M	0.80847	2.515	0.80722	D	1	P	0.52692	0.955	P	0.55087	0.768	T	0.62732	-0.6792	10	0.44086	T	0.13	-9.6576	13.4952	0.61421	0.0813:0.0:0.9187:0.0	.	133	O43791	SPOP_HUMAN	L	133;133;133;133;17;133;86;133;133;133;133	ENSP00000377001:F133L;ENSP00000377004:F133L;ENSP00000240327:F133L;ENSP00000425905:F133L;ENSP00000420908:F133L;ENSP00000426986:F133L;ENSP00000420960:F133L;ENSP00000426262:F133L;ENSP00000424119:F133L	ENSP00000240327:F133L	F	-	3	2	SPOP	45051423	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.591000	0.36665	1.345000	0.45676	0.563000	0.77884	TTC		0.448	SPOP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365154.2	NM_003563		27	140	0	0	0	1	0	27	140					C	47696424	G	C	47696424	3	2	246	1	0	0	0	0	1	0	0	0	15083	1281	45	5	749	5	SPOP	17	47696424	Missense_Mutation	SNP	G	TCGA-HC-A6AP-01A-11D-A30E-08	45752782	47696424	33498786	42	11597											
ITGA3	3675	broad.mit.edu	37	chr17	48145589	48145589	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cacagactacctggagacggGcatgtgccagctgggcacca	10	5	13	13	1	0	2	0	0	0	2	0	3	0	2	3	3	3	3	3	3	1	1			TCGA-HC-A6AP-01A-11D-A30E-08	TCGA-HC-A6AP-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c224cf4-f1e6-4aa3-b08b-8d28cac6b2f6	574a6e8b-f27d-4fe5-8d21-6d0857077ac5	g.chr17:48145589G>T	ENST00000320031.8	+	4	914	c.584G>T	c.(583-585)gGc>gTc	p.G195V	ITGA3_ENST00000544892.1_Intron|ITGA3_ENST00000007722.7_Missense_Mutation_p.G195V	NM_002204.2|NM_005501.2	NP_002195.1|NP_005492.1	P26006	ITA3_HUMAN	integrin, alpha 3 (antigen CD49C, alpha 3 subunit of VLA-3 receptor)	195					blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|lung development (GO:0030324)|maternal process involved in female pregnancy (GO:0060135)|memory (GO:0007613)|mesodermal cell differentiation (GO:0048333)|negative regulation of cell projection organization (GO:0031345)|nephron development (GO:0072006)|neuron migration (GO:0001764)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron projection development (GO:0010976)|regulation of BMP signaling pathway (GO:0030510)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|regulation of Wnt signaling pathway (GO:0030111)|renal filtration (GO:0097205)|response to drug (GO:0042493)|response to gonadotropin (GO:0034698)|skin development (GO:0043588)	basolateral plasma membrane (GO:0016323)|cell periphery (GO:0071944)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|integrin alpha3-beta1 complex (GO:0034667)|integrin complex (GO:0008305)|invadopodium membrane (GO:0071438)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|synapse (GO:0045202)	glycoprotein binding (GO:0001948)|metal ion binding (GO:0046872)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)			endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)	31						CTGGAGACGGGCATGTGCCAG	0.592																																						ENST00000320031.8																			0				endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)	31						c.(583-585)gGc>gTc		integrin, alpha 3 (antigen CD49C, alpha 3 subunit of VLA-3 receptor)							119	102	108					17																	48145589		2203	4300	6503	SO:0001583	missense	3675				blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|leukocyte migration	cell surface|integrin complex	protein binding|receptor activity	g.chr17:48145589G>T	M59911	CCDS11557.1, CCDS11558.1	17q21.33	2010-03-23	2003-10-13		ENSG00000005884	ENSG00000005884		"CD molecules", "Integrins"	6139	protein-coding gene	gene with protein product		605025	"antigen identified by monoclonal antibody J143"	MSK18		1655803, 9704023	Standard	NM_005501		Approved	CD49c, VLA3a, VCA-2, GAP-B3	uc010dbm.3	P26006	OTTHUMG00000161890	ENST00000320031.8:c.584G>T	17.37:g.48145589G>T	ENSP00000315190:p.Gly195Val					ITGA3_ENST00000544892.1_Intron|ITGA3_ENST00000007722.7_Missense_Mutation_p.G195V	p.G195V	NM_002204.2|NM_005501.2	NP_002195.1|NP_005492.1	P26006	ITA3_HUMAN			4	914	+			195					A7E246|B7ZM80|B9EGQ1|D3DTX4|D3DTX5	Missense_Mutation	SNP	ENST00000320031.8	37	c.584G>T	CCDS11558.1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.447848	0.84101	.	.	ENSG00000005884	ENST00000007722;ENST00000538917;ENST00000320031	D;D	0.92595	-3.07;-3.07	5.36	5.36	0.76844	.	0.049143	0.85682	D	0.000000	D	0.96262	0.8781	M	0.89095	3.005	0.80722	D	1	D;D	0.64830	0.994;0.968	P;B	0.60886	0.88;0.436	D	0.96926	0.9677	10	0.87932	D	0	.	17.8421	0.88718	0.0:0.0:1.0:0.0	.	195;195	P26006-1;P26006	.;ITA3_HUMAN	V	195;181;195	ENSP00000007722:G195V;ENSP00000315190:G195V	ENSP00000007722:G195V	G	+	2	0	ITGA3	45500588	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.465000	0.97660	2.486000	0.83907	0.650000	0.86243	GGC		0.592	ITGA3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000366298.1	NM_005501		5	134	1	0	0.217242	1	0.217242	5	134					T	48145589	G	T	48145589	3	4	246	1	0	0	0	0	1	0	0	0	7877	1203	42	5	598	5	ITGA3	17	48145589	Missense_Mutation	SNP	G	TCGA-HC-A6AP-01A-11D-A30E-08	449165	48145589	33049621	43	11598											
SEC14L1	6397	broad.mit.edu	37	chr17	75210053	75210053	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cggcttctcccagctgagtgCcgccaccacctcctccagcc	5	7	8	21	2	1	1	0	1	1	0	4	1	3	1	8	1	3	2	8	1	0	1			TCGA-HC-A6AP-01A-11D-A30E-08	TCGA-HC-A6AP-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c224cf4-f1e6-4aa3-b08b-8d28cac6b2f6	574a6e8b-f27d-4fe5-8d21-6d0857077ac5	g.chr17:75210053C>T	ENST00000413679.2	+	17	2399	c.2096C>T	c.(2095-2097)gCc>gTc	p.A699V	SEC14L1_ENST00000443798.4_Missense_Mutation_p.A699V|SEC14L1_ENST00000585618.1_Missense_Mutation_p.A699V|SEC14L1_ENST00000392476.2_Missense_Mutation_p.A699V|SEC14L1_ENST00000431431.2_Missense_Mutation_p.A665V|SEC14L1_ENST00000591437.1_Missense_Mutation_p.A665V|SEC14L1_ENST00000430767.4_Missense_Mutation_p.A699V|SEC14L1_ENST00000436233.4_Missense_Mutation_p.A699V	NM_001143998.1|NM_001143999.1|NM_003003.3	NP_001137470|NP_001137471|NP_002994	Q92503	S14L1_HUMAN	SEC14-like 1 (S. cerevisiae)	699					transport (GO:0006810)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				NS(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(2)	31						CAGCTGAGTGCCGCCACCACC	0.662																																						ENST00000413679.2																			0				NS(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(2)	31						c.(2095-2097)gCc>gTc		SEC14-like 1 (S. cerevisiae)							64	58	60					17																	75210053		2202	4300	6502	SO:0001583	missense	6397				transport	Golgi apparatus|integral to membrane	binding	g.chr17:75210053C>T	D67029	CCDS11752.1, CCDS42385.1, CCDS45789.1	17q25.2	2008-02-01	2001-11-28			ENSG00000129657			10698	protein-coding gene	gene with protein product		601504	"SEC14 (S. cerevisiae)-like 1"	SEC14L		8697811	Standard	NM_001143998		Approved	PRELID4A	uc002jto.3	Q92503		ENST00000413679.2:c.2096C>T	17.37:g.75210053C>T	ENSP00000394716:p.Ala699Val					SEC14L1_ENST00000430767.4_Missense_Mutation_p.A699V|SEC14L1_ENST00000585618.1_Missense_Mutation_p.A699V|SEC14L1_ENST00000392476.2_Missense_Mutation_p.A699V|SEC14L1_ENST00000431431.2_Missense_Mutation_p.A665V|SEC14L1_ENST00000436233.4_Missense_Mutation_p.A699V|SEC14L1_ENST00000443798.4_Missense_Mutation_p.A699V|SEC14L1_ENST00000591437.1_Missense_Mutation_p.A665V	p.A699V	NM_001143998.1|NM_001143999.1|NM_003003.3	NP_001137470.1|NP_001137471.1|NP_002994.3	Q92503	S14L1_HUMAN			17	2399	+			699					A8K4E8|B4DDI5|D5G3K1|Q99780	Missense_Mutation	SNP	ENST00000413679.2	37	c.2096C>T	CCDS11752.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.382528	0.82792	.	.	ENSG00000129657	ENST00000392476;ENST00000443798;ENST00000436233;ENST00000430767;ENST00000413679;ENST00000431431	T;T;T;T;T;T	0.71341	-0.45;-0.45;-0.45;-0.45;-0.45;-0.56	4.61	3.64	0.41730	.	0.059359	0.64402	N	0.000003	T	0.57946	0.2088	L	0.38838	1.175	0.53005	D	0.999964	B;B	0.26602	0.154;0.096	B;B	0.20955	0.032;0.014	T	0.54456	-0.8291	10	0.33940	T	0.23	-35.3795	11.458	0.50193	0.0:0.913:0.0:0.087	.	699;699	Q92503-2;Q92503	.;S14L1_HUMAN	V	699;699;699;699;699;665	ENSP00000376268:A699V;ENSP00000406030:A699V;ENSP00000390392:A699V;ENSP00000408169:A699V;ENSP00000394716:A699V;ENSP00000389838:A665V	ENSP00000376268:A699V	A	+	2	0	SEC14L1	72721648	1.000000	0.71417	0.921000	0.36526	0.783000	0.44284	5.393000	0.66279	1.129000	0.42072	0.462000	0.41574	GCC		0.662	SEC14L1-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000436240.1	NM_003003		4	154	0	0	0	1	0	4	154					T	75210053	C	T	75210053	3	4	246	1	0	0	0	0	1	0	0	0	13981	739	26	3	2154	3	SEC14L1	17	75210053	Missense_Mutation	SNP	C	TCGA-HC-A6AP-01A-11D-A30E-08	27064464	75210053	5985157	44	11599											
EPB41L3	23136	broad.mit.edu	37	chr18	5416007	5416007	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caagggacggtgagcggatcGggaggtaatgctgcaagctc	10	6	17	8	3	0	1	0	1	0	0	2	4	0	4	0	5	4	4	0	5	3	1	rs141321874	byFrequency	TCGA-HC-A6AP-01A-11D-A30E-08	TCGA-HC-A6AP-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c224cf4-f1e6-4aa3-b08b-8d28cac6b2f6	574a6e8b-f27d-4fe5-8d21-6d0857077ac5	g.chr18:5416007G>A	ENST00000341928.2	-	13	2217	c.1877C>T	c.(1876-1878)cCg>cTg	p.P626L	EPB41L3_ENST00000342933.3_Missense_Mutation_p.P626L|EPB41L3_ENST00000400111.3_Intron|EPB41L3_ENST00000540638.2_Intron|EPB41L3_ENST00000544123.1_Intron|EPB41L3_ENST00000542146.1_Intron|EPB41L3_ENST00000427684.2_Intron|EPB41L3_ENST00000542652.2_Intron	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	626	Spectrin--actin-binding. {ECO:0000255}.				apoptotic process (GO:0006915)|cortical actin cytoskeleton organization (GO:0030866)|cortical cytoskeleton organization (GO:0030865)|cytoskeletal anchoring at plasma membrane (GO:0007016)|myelin maintenance (GO:0043217)|neuron projection morphogenesis (GO:0048812)|paranodal junction assembly (GO:0030913)|protein localization to juxtaparanode region of axon (GO:0071205)|protein localization to paranode region of axon (GO:0002175)|protein localization to plasma membrane (GO:0072659)|regulation of cell shape (GO:0008360)	axolemma (GO:0030673)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)|juxtaparanode region of axon (GO:0044224)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						TGAGCGGATCGGGAGGTAATG	0.532													G|||	2	0.000399361	0	0	5008	,	,		21436	0		0.002	False		,,,				2504	0					ENST00000341928.2																			0				breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						c.(1876-1878)cCg>cTg		erythrocyte membrane protein band 4.1-like 3		G	LEU/PRO	0,4406		0,0,2203	198	140	159		1877	5.5	1	18	dbSNP_134	159	3,8597	3.0+/-9.4	0,3,4297	yes	missense	EPB41L3	NM_012307.2	98	0,3,6500	AA,AG,GG		0.0349,0.0,0.0231	probably-damaging	626/1088	5416007	3,13003	2203	4300	6503	SO:0001583	missense	23136				cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity	g.chr18:5416007G>A	AB023204	CCDS11838.1, CCDS62381.1, CCDS62382.1	18p11.32	2006-06-28			ENSG00000082397	ENSG00000082397			3380	protein-coding gene	gene with protein product		605331				9828140, 9892180	Standard	NM_012307		Approved	DAL1, KIAA0987, 4.1B	uc002kmt.1	Q9Y2J2	OTTHUMG00000131562	ENST00000341928.2:c.1877C>T	18.37:g.5416007G>A	ENSP00000343158:p.Pro626Leu					EPB41L3_ENST00000542146.1_Intron|EPB41L3_ENST00000544123.1_Intron|EPB41L3_ENST00000540638.2_Intron|EPB41L3_ENST00000400111.3_Intron|EPB41L3_ENST00000427684.2_Intron|EPB41L3_ENST00000342933.3_Missense_Mutation_p.P626L|EPB41L3_ENST00000542652.2_Intron	p.P626L	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN			13	2217	-			626			Spectrin--actin-binding (Potential).		B7Z4I5|F5GX05|O95713|Q9BRP5	Missense_Mutation	SNP	ENST00000341928.2	37	c.1877C>T	CCDS11838.1	2	9.157509157509158E-4	0	0.0	0	0.0	0	0.0	2	0.002638522427440633	G	26.6	4.757577	0.89843	0.0	3.49E-4	ENSG00000082397	ENST00000341928;ENST00000342933	D;D	0.82344	-1.6;-1.6	5.48	5.48	0.80851	.	0.065939	0.64402	D	0.000009	D	0.89594	0.6760	M	0.72894	2.215	0.80722	D	1	D	0.89917	1.0	P	0.62298	0.9	D	0.87585	0.2487	10	0.31617	T	0.26	.	19.3527	0.94395	0.0:0.0:1.0:0.0	.	626	Q9Y2J2	E41L3_HUMAN	L	626	ENSP00000343158:P626L;ENSP00000341138:P626L	ENSP00000343158:P626L	P	-	2	0	EPB41L3	5406007	1.000000	0.71417	0.995000	0.50966	0.958000	0.62258	9.687000	0.98667	2.567000	0.86603	0.563000	0.77884	CCG		0.532	EPB41L3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254424.1	NM_012307		26	137	0	0	0	1	0	26	137					A	5416007	G	A	5416007	3	1	246	1	0	0	0	0	1	0	0	0	5154	1116	39	2	1426	2	EPB41L3	18	5416007	Missense_Mutation	SNP	G	TCGA-HC-A6AP-01A-11D-A30E-08		5416007	72661241	45	11600											
DOT1L	84444	broad.mit.edu	37	chr19	2226743	2226743	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	caagaccccactgctgagcgGcaaggccgccaaggcccggg	9	2	14	16	3	0	2	0	1	0	1	0	2	0	2	5	4	2	2	5	4	3	0			TCGA-HC-A6AP-01A-11D-A30E-08	TCGA-HC-A6AP-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c224cf4-f1e6-4aa3-b08b-8d28cac6b2f6	574a6e8b-f27d-4fe5-8d21-6d0857077ac5	g.chr19:2226743G>A	ENST00000398665.3	+	27	4259	c.4223G>A	c.(4222-4224)gGc>gAc	p.G1408D		NM_032482.2	NP_115871.1	Q8TEK3	DOT1L_HUMAN	DOT1-like histone H3K79 methyltransferase	1408					histone lysine methylation (GO:0034968)|regulation of JAK-STAT cascade (GO:0046425)|regulation of transcription regulatory region DNA binding (GO:2000677)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription factor binding (GO:0008134)			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(9)	42		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CTGCTGAGCGGCAAGGCCGCC	0.721																																						ENST00000398665.3																			0				NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(9)	42						c.(4222-4224)gGc>gAc		DOT1-like histone H3K79 methyltransferase							10	16	14					19																	2226743		1994	4124	6118	SO:0001583	missense	84444					nucleus	DNA binding|histone-lysine N-methyltransferase activity|protein binding	g.chr19:2226743G>A	AF509504	CCDS42460.1	19p13.3	2013-05-21	2013-05-21		ENSG00000104885	ENSG00000104885	2.1.1.43	"Chromatin-modifying enzymes / K-methyltransferases"	24948	protein-coding gene	gene with protein product	"histone methyltransferase DOT1L"	607375	"DOT1-like, histone H3 methyltransferase (S. cerevisiae)"			11347906, 12123582	Standard	NM_032482		Approved	KIAA1814, DOT1, KMT4	uc002lvb.4	Q8TEK3	OTTHUMG00000150431	ENST00000398665.3:c.4223G>A	19.37:g.2226743G>A	ENSP00000381657:p.Gly1408Asp						p.G1408D	NM_032482.2	NP_115871.1	Q8TEK3	DOT1L_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	27	4259	+		Hepatocellular(1079;0.137)	1408					O60379|Q96JL1	Missense_Mutation	SNP	ENST00000398665.3	37	c.4223G>A	CCDS42460.1	.	.	.	.	.	.	.	.	.	.	G	10.20	1.284442	0.23392	.	.	ENSG00000104885	ENST00000398665;ENST00000221482;ENST00000457590	T;T	0.38077	1.63;1.16	4.53	2.35	0.29111	.	0.893166	0.09450	N	0.800481	T	0.26991	0.0661	N	0.22421	0.69	0.22754	N	0.99877	B;B	0.18968	0.019;0.032	B;B	0.24701	0.01;0.055	T	0.33085	-0.9882	10	0.87932	D	0	-2.0303	8.3086	0.32058	0.0832:0.0:0.7624:0.1544	.	1408;1408	Q8TEK3;Q8TEK3-2	DOT1L_HUMAN;.	D	1408;1408;288	ENSP00000381657:G1408D;ENSP00000407411:G288D	ENSP00000221482:G1408D	G	+	2	0	DOT1L	2177743	0.932000	0.31603	0.010000	0.14722	0.076000	0.17211	2.822000	0.48073	0.357000	0.24183	-0.258000	0.10820	GGC		0.721	DOT1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318066.1	NM_032482		3	29	0	0	0	1	0	3	29					A	2226743	G	A	2226743	3	1	246	1	0	0	0	0	1	0	0	0	4709	1203	42	3	4329	3	DOT1L	19	2226743	Missense_Mutation	SNP	G	TCGA-HC-A6AP-01A-11D-A30E-08		2226743	56902240	46	11601											
MUC16	94025	broad.mit.edu	37	chr19	9070676	9070676	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acggttgaatgagtccctccCtggaaaagtgtggttgatgt	9	12	13	7	1	0	3	0	3	0	0	2	4	2	4	2	3	0	2	2	3	3	2			TCGA-HC-A6AP-01A-11D-A30E-08	TCGA-HC-A6AP-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c224cf4-f1e6-4aa3-b08b-8d28cac6b2f6	574a6e8b-f27d-4fe5-8d21-6d0857077ac5	g.chr19:9070676C>A	ENST00000397910.4	-	3	16973	c.16770G>T	c.(16768-16770)caG>caT	p.Q5590H		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	5592	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GAGTCCCTCCCTGGAAAAGTG	0.512																																						ENST00000397910.4																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(16768-16770)caG>caT		mucin 16, cell surface associated							157	145	149					19																	9070676		1979	4159	6138	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9070676C>A	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.16770G>T	19.37:g.9070676C>A	ENSP00000381008:p.Gln5590His						p.Q5590H	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			3	16973	-			5592			Thr-rich.		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.16770G>T	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	c	2.223	-0.377829	0.05000	.	.	ENSG00000181143	ENST00000397910	T	0.23552	1.9	1.67	0.609	0.17575	.	.	.	.	.	T	0.11196	0.0273	N	0.19112	0.55	.	.	.	P	0.41784	0.762	B	0.29785	0.107	T	0.18272	-1.0342	8	0.87932	D	0	.	3.8634	0.09005	0.0:0.7675:0.0:0.2325	.	5590	B5ME49	.	H	5590	ENSP00000381008:Q5590H	ENSP00000381008:Q5590H	Q	-	3	2	MUC16	8931676	0.000000	0.05858	0.000000	0.03702	0.025000	0.11179	-0.128000	0.10531	0.270000	0.21984	0.299000	0.19835	CAG		0.512	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		13	177	1	0	1.49906e-05	1	1.69705e-05	13	177					A	9070676	C	A	9070676	3	1	246	1	0	0	0	0	1	0	0	0	9973	680	24	5	27081	5	MUC16	19	9070676	Missense_Mutation	SNP	C	TCGA-HC-A6AP-01A-11D-A30E-08	6843933	9070676	50058307	47	11602											
KIAA1683	80726	broad.mit.edu	37	chr19	18378298	18378298	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgaactgtagctaggcggcCggctgcattgccttgattac	7	11	13	10	2	0	2	0	2	0	0	0	2	0	2	2	3	5	4	2	3	4	5			TCGA-HC-A6AP-01A-11D-A30E-08	TCGA-HC-A6AP-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c224cf4-f1e6-4aa3-b08b-8d28cac6b2f6	574a6e8b-f27d-4fe5-8d21-6d0857077ac5	g.chr19:18378298C>T	ENST00000600328.3	-	3	245	c.52G>A	c.(52-54)Ggc>Agc	p.G18S	KIAA1683_ENST00000392413.4_Missense_Mutation_p.G18S|KIAA1683_ENST00000600359.3_5'UTR			Q9H0B3	K1683_HUMAN	KIAA1683	18						mitochondrion (GO:0005739)|nucleus (GO:0005634)				breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						GCTAGGCGGCCGGCTGCATTG	0.632																																						ENST00000392413.3																			0				breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						c.(52-54)Ggc>Agc		KIAA1683							69	76	74					19																	18378298		2203	4298	6501	SO:0001583	missense	80726					mitochondrion		g.chr19:18378298C>T	AB051470	CCDS32958.1, CCDS46017.1, CCDS46018.1	19p13.1	2008-02-05				ENSG00000130518			29350	protein-coding gene	gene with protein product						11214970, 11230166	Standard	NM_025249		Approved		uc010ebn.2	Q9H0B3		ENST00000600328.3:c.52G>A	19.37:g.18378298C>T	ENSP00000470780:p.Gly18Ser					KIAA1683_ENST00000600359.2_5'UTR|KIAA1683_ENST00000600328.2_Missense_Mutation_p.G18S	p.G18S	NM_001145304.1|NM_001145305.1|NM_025249.3	NP_001138776.1|NP_001138777.1|NP_079525.1	Q9H0B3	K1683_HUMAN			3	267	-			18					B4DYH2|E9PDE0|E9PH54|Q2KHR5|Q8N4G8|Q96M14|Q9C0I0	Missense_Mutation	SNP	ENST00000600328.3	37	c.52G>A	CCDS32958.1	.	.	.	.	.	.	.	.	.	.	C	1.412	-0.575124	0.03882	.	.	ENSG00000130518	ENST00000392413;ENST00000359737;ENST00000358422;ENST00000411671	T;T	0.04275	3.66;3.69	2.58	-0.883	0.10600	.	.	.	.	.	T	0.02267	0.0070	N	0.12182	0.205	0.19300	N	0.99998	B;B	0.24920	0.06;0.114	B;B	0.11329	0.003;0.006	T	0.45702	-0.9243	9	0.32370	T	0.25	-12.3427	2.1327	0.03754	0.2463:0.3264:0.0:0.4273	.	18;18	E9PDE0;Q9H0B3	.;K1683_HUMAN	S	18;18;17;18	ENSP00000376213:G18S;ENSP00000352774:G18S	ENSP00000351198:G17S	G	-	1	0	KIAA1683	18239298	0.000000	0.05858	0.021000	0.16686	0.013000	0.08279	-1.018000	0.03626	-0.274000	0.09232	0.313000	0.20887	GGC		0.632	KIAA1683-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000466312.3			7	255	0	0	0	1	0	7	255					T	18378298	C	T	18378298	3	4	246	1	0	0	0	0	1	0	0	0	8251	652	23	2	4059	2	KIAA1683	19	18378298	Missense_Mutation	SNP	C	TCGA-HC-A6AP-01A-11D-A30E-08	9307622	18378298	40750685	48	11603											
RYR1	6261	broad.mit.edu	37	chr19	38964031	38964031	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcaggtatcccgagtggaCggcactgtggacacgccccc	7	6	12	16	3	1	0	1	0	0	0	2	3	2	2	4	4	0	2	4	4	1	1			TCGA-HC-A6AP-01A-11D-A30E-08	TCGA-HC-A6AP-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c224cf4-f1e6-4aa3-b08b-8d28cac6b2f6	574a6e8b-f27d-4fe5-8d21-6d0857077ac5	g.chr19:38964031C>T	ENST00000359596.3	+	28	3780	c.3780C>T	c.(3778-3780)gaC>gaT	p.D1260D	RYR1_ENST00000355481.4_Silent_p.D1260D|RYR1_ENST00000360985.3_Silent_p.D1260D			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	1260	6 X approximate repeats.				calcium ion transport (GO:0006816)|cellular response to caffeine (GO:0071313)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|ossification involved in bone maturation (GO:0043931)|outflow tract morphogenesis (GO:0003151)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|skeletal muscle fiber development (GO:0048741)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|integral component of plasma membrane (GO:0005887)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|voltage-gated calcium channel activity (GO:0005245)			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	CCCGAGTGGACGGCACTGTGG	0.672																																						ENST00000355481.4																			0				NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285						c.(3778-3780)gaC>gaT		ryanodine receptor 1 (skeletal)	Dantrolene(DB01219)						50	54	53					19																	38964031		2203	4299	6502	SO:0001819	synonymous_variant	6261				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr19:38964031C>T	J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"Ion channels / Ryanodine receptors"	10483	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 137"	180901	"central core disease of muscle"	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.3780C>T	19.37:g.38964031C>T						RYR1_ENST00000360985.3_Silent_p.D1260D|RYR1_ENST00000359596.3_Silent_p.D1260D	p.D1260D	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		28	3911	+	all_cancers(60;7.91e-06)		1260			6 X approximate repeats.		Q16314|Q16368|Q9NPK1|Q9P1U4	Silent	SNP	ENST00000359596.3	37	c.3780C>T	CCDS33011.1																																																																																				0.672	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1			12	221	0	0	0	1	0	12	221					T	38964031	C	T	38964031	2	4	246	1	0	0	0	0	0	0	0	1	13768	535	19	1		1	RYR1	19	38964031	Silent	SNP	C	TCGA-HC-A6AP-01A-11D-A30E-08	20585733	38964031	20164952	49	11604											
DEDD2	162989	broad.mit.edu	37	chr19	42719342	42719342	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcttgactgccgacggcgacGgcagctaccctctgtcctct	5	9	11	16	4	2	1	0	1	2	0	3	3	3	1	3	2	3	3	3	2	1	2	rs139696001	byFrequency	TCGA-HC-A6AP-01A-11D-A30E-08	TCGA-HC-A6AP-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c224cf4-f1e6-4aa3-b08b-8d28cac6b2f6	574a6e8b-f27d-4fe5-8d21-6d0857077ac5	g.chr19:42719342G>A	ENST00000595337.1	-	3	478	c.391C>T	c.(391-393)Cgt>Tgt	p.R131C	DEDD2_ENST00000596251.1_Missense_Mutation_p.R131C|DEDD2_ENST00000598727.1_Missense_Mutation_p.R131C|DEDD2_ENST00000593804.1_5'UTR|DEDD2_ENST00000336034.4_Missense_Mutation_p.R131C	NM_001270614.1	NP_001257543.1	Q8WXF8	DEDD2_HUMAN	death effector domain containing 2	131					apoptotic nuclear changes (GO:0030262)|cellular homeostasis (GO:0019725)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|intracellular signal transduction (GO:0035556)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|RNA processing (GO:0006396)|rRNA catabolic process (GO:0016075)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)	DNA binding (GO:0003677)|receptor signaling complex scaffold activity (GO:0030159)			endometrium(1)|large_intestine(1)|ovary(1)|prostate(2)	5		Prostate(69;0.0704)				CGACGGCGACGGCAGCTACCC	0.552																																						ENST00000595337.1																			0				endometrium(1)|large_intestine(1)|ovary(1)|prostate(2)	5						c.(391-393)Cgt>Tgt		death effector domain containing 2		G	CYS/ARG	0,4406		0,0,2203	81	74	76		391	2.6	0.9	19	dbSNP_134	76	3,8597	3.0+/-9.4	0,3,4297	yes	missense	DEDD2	NM_133328.2	180	0,3,6500	AA,AG,GG		0.0349,0.0,0.0231	probably-damaging	131/327	42719342	3,13003	2203	4300	6503	SO:0001583	missense	162989				activation of pro-apoptotic gene products|apoptotic nuclear change|cellular homeostasis|induction of apoptosis via death domain receptors|intracellular signal transduction|negative regulation of transcription, DNA-dependent|RNA processing|rRNA catabolic process|transcription, DNA-dependent	nucleolus	DNA binding|receptor signaling complex scaffold activity	g.chr19:42719342G>A	AY125488	CCDS12597.1, CCDS59391.1	19q13.31	2008-02-05				ENSG00000160570			24450	protein-coding gene	gene with protein product						11965497, 12235123	Standard	NM_133328		Approved	FLAME-3	uc031rkv.1	Q8WXF8		ENST00000595337.1:c.391C>T	19.37:g.42719342G>A	ENSP00000470082:p.Arg131Cys					DEDD2_ENST00000598727.1_Missense_Mutation_p.R131C|DEDD2_ENST00000336034.4_Missense_Mutation_p.R131C|DEDD2_ENST00000596251.1_Missense_Mutation_p.R131C|DEDD2_ENST00000593804.1_5'UTR	p.R131C	NM_001270614.1	NP_001257543.1	Q8WXF8	DEDD2_HUMAN			3	478	-		Prostate(69;0.0704)	131					Q8NBR2|Q8NES1|Q8TAA8|Q96D35	Missense_Mutation	SNP	ENST00000595337.1	37	c.391C>T	CCDS12597.1	.	.	.	.	.	.	.	.	.	.	G	14.70	2.612435	0.46631	0.0	3.49E-4	ENSG00000160570	ENST00000336034	.	.	.	4.88	2.6	0.31112	.	1.130820	0.06536	N	0.742319	T	0.49081	0.1536	N	0.08118	0	0.39630	D	0.97016	D;D	0.71674	0.998;0.997	P;P	0.59487	0.858;0.725	T	0.36212	-0.9757	9	0.46703	T	0.11	-0.2647	9.1493	0.36953	0.0:0.1603:0.6735:0.1662	.	131;131	Q8WXF8-2;Q8WXF8	.;DEDD2_HUMAN	C	131	.	ENSP00000336972:R131C	R	-	1	0	DEDD2	47411182	0.895000	0.30542	0.942000	0.38095	0.977000	0.68977	2.143000	0.42187	0.512000	0.28257	0.650000	0.86243	CGT		0.552	DEDD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000463508.1	NM_133328		32	140	0	0	0	1	0	32	140					A	42719342	G	A	42719342	3	1	246	1	0	0	0	0	1	0	0	0	4385	1116	39	2	601	2	DEDD2	19	42719342	Missense_Mutation	SNP	G	TCGA-HC-A6AP-01A-11D-A30E-08	3755311	42719342	16409641	50	11605											
OLFM3	118427	broad.mit.edu	37	chr1	102269968	102269968	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcatatgtggaggttttggtGgaataggaataatacacctt	12	14	11	4	0	1	0	1	0	0	0	1	3	1	3	1	5	1	1	1	5	6	7			TCGA-HC-A6AQ-01A-11D-A30E-08	TCGA-HC-A6AQ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	818ac005-a711-4c39-a06c-d103c59def26	91c131c3-f705-4867-8a15-2661ef72a6c1	g.chr1:102269968G>A	ENST00000338858.5	-	6	1262	c.1263C>T	c.(1261-1263)tcC>tcT	p.S421S	OLFM3_ENST00000536598.1_3'UTR|OLFM3_ENST00000462354.1_5'UTR|OLFM3_ENST00000370103.4_Silent_p.S401S			Q96PB7	NOE3_HUMAN	olfactomedin 3	421	Olfactomedin-like. {ECO:0000255|PROSITE- ProRule:PRU00446}.				eye photoreceptor cell development (GO:0042462)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|synapse (GO:0045202)				breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(24)|ovary(3)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	43		all_epithelial(167;1.87e-06)|all_lung(203;8.12e-05)|Lung NSC(277;0.000189)		all cancers(265;0.0843)|Epithelial(280;0.0921)|COAD - Colon adenocarcinoma(174;0.145)		AGGTTTTGGTGGAATAGGAAT	0.443																																						ENST00000370103.4																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(24)|ovary(3)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	43						c.(1201-1203)tcC>tcT		olfactomedin 3							271	235	247					1																	102269968		2203	4300	6503	SO:0001819	synonymous_variant	118427					extracellular region		g.chr1:102269968G>A	AF397392	CCDS30781.1, CCDS72832.1	1p22	2008-05-23			ENSG00000118733	ENSG00000118733			17990	protein-coding gene	gene with protein product	"optimedin"	607567				12019210, 16115881	Standard	NM_001288821		Approved	NOE3	uc001dug.2	Q96PB7	OTTHUMG00000010941	ENST00000338858.5:c.1263C>T	1.37:g.102269968G>A						OLFM3_ENST00000462354.1_5'UTR|OLFM3_ENST00000338858.5_Silent_p.S421S|OLFM3_ENST00000536598.1_3'UTR	p.S401S	NM_058170.2	NP_477518.2	Q96PB7	NOE3_HUMAN		all cancers(265;0.0843)|Epithelial(280;0.0921)|COAD - Colon adenocarcinoma(174;0.145)	6	1416	-		all_epithelial(167;1.87e-06)|all_lung(203;8.12e-05)|Lung NSC(277;0.000189)	421			Olfactomedin-like.		Q5T3V6|Q6IMI7|Q6IMI8|Q6IMI9|Q6IMJ1|Q8TBG1|Q96PB2|Q96PB3|Q96PB4|Q96PB5|Q96PB6	Silent	SNP	ENST00000338858.5	37	c.1203C>T																																																																																					0.443	OLFM3-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000030142.1			8	117	0	0	0	1	0	8	117					A	102269968	G	A	102269968	2	1	247	1	0	0	0	0	0	0	0	1	10854	1335	47	3		3	OLFM3	1	102269968	Silent	SNP	G	TCGA-HC-A6AQ-01A-11D-A30E-08		102269968	146980653	1	11606											
KIDINS220	57498	broad.mit.edu	37	chr2	8919107	8919107	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	attgcttagtccacgactatTaaggaacacaggcaagtgga	14	9	10	8	1	0	0	0	0	0	0	1	3	1	2	1	3	2	2	1	3	5	4			TCGA-HC-A6AQ-01A-11D-A30E-08	TCGA-HC-A6AQ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	818ac005-a711-4c39-a06c-d103c59def26	91c131c3-f705-4867-8a15-2661ef72a6c1	g.chr2:8919107T>A	ENST00000256707.3	-	19	2714	c.2533A>T	c.(2533-2535)Aat>Tat	p.N845Y	KIDINS220_ENST00000473731.1_Missense_Mutation_p.N845Y|KIDINS220_ENST00000418530.1_Missense_Mutation_p.N803Y|KIDINS220_ENST00000427284.1_Missense_Mutation_p.N845Y|KIDINS220_ENST00000319688.5_Missense_Mutation_p.N846Y	NM_020738.2	NP_065789.1	Q9ULH0	KDIS_HUMAN	kinase D-interacting substrate, 220kDa	845	KAP NTPase.				activation of MAPKK activity (GO:0000186)|cellular response to nerve growth factor stimulus (GO:1990090)|cytoplasmic transport (GO:0016482)|dendrite morphogenesis (GO:0048813)|in utero embryonic development (GO:0001701)|nerve growth factor signaling pathway (GO:0038180)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of neuron projection development (GO:0010976)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|membrane (GO:0016020)|protein complex (GO:0043234)	PDZ domain binding (GO:0030165)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(25)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	60	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					CCACGACTATTAAGGAACACA	0.418																																						ENST00000256707.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(25)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	60						c.(2533-2535)Aat>Tat		kinase D-interacting substrate, 220kDa							220	199	206					2																	8919107		1903	4132	6035	SO:0001583	missense	57498				activation of MAPKK activity|nerve growth factor receptor signaling pathway	cytosol|integral to membrane		g.chr2:8919107T>A	AK025528	CCDS42650.1	2p24	2013-01-10			ENSG00000134313	ENSG00000134313		"Ankyrin repeat domain containing"	29508	protein-coding gene	gene with protein product	"ankyrin repeat-rich membrane-spanning protein"	615759				10998417, 10574462	Standard	NM_020738		Approved	ARMS	uc002qzc.2	Q9ULH0	OTTHUMG00000151658	ENST00000256707.3:c.2533A>T	2.37:g.8919107T>A	ENSP00000256707:p.Asn845Tyr					KIDINS220_ENST00000418530.1_Missense_Mutation_p.N803Y|KIDINS220_ENST00000473731.1_Missense_Mutation_p.N845Y|KIDINS220_ENST00000319688.5_Missense_Mutation_p.N846Y|KIDINS220_ENST00000427284.1_Missense_Mutation_p.N845Y	p.N845Y	NM_020738.2	NP_065789.1	Q9ULH0	KDIS_HUMAN			19	2714	-	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		845			KAP NTPase.		A1L4N4|Q4VC08|Q6MZU2|Q9H889|Q9H9E4|Q9NT37|Q9UF42	Missense_Mutation	SNP	ENST00000256707.3	37	c.2533A>T	CCDS42650.1	.	.	.	.	.	.	.	.	.	.	T	16.46	3.128451	0.56721	.	.	ENSG00000134313	ENST00000496383;ENST00000541927;ENST00000256707;ENST00000427284;ENST00000418530;ENST00000473731;ENST00000489024;ENST00000319688	T;T;T;T;T;T;T	0.32023	1.47;1.47;1.47;1.47;1.47;1.47;1.47	5.64	5.64	0.86602	KAP P-loop (1);	0.000000	0.85682	D	0.000000	T	0.54143	0.1840	M	0.63428	1.95	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;1.0;1.0	D;D;D;D	0.97110	0.999;0.986;1.0;1.0	T	0.56251	-0.8010	10	0.72032	D	0.01	.	16.1617	0.81721	0.0:0.0:0.0:1.0	.	846;846;803;845	B4DK94;E9PH70;Q9ULH0-2;Q9ULH0	.;.;.;KDIS_HUMAN	Y	592;529;845;845;803;845;846;846	ENSP00000420364:N592Y;ENSP00000256707:N845Y;ENSP00000411849:N845Y;ENSP00000414923:N803Y;ENSP00000418974:N845Y;ENSP00000419964:N846Y;ENSP00000319947:N846Y	ENSP00000256707:N845Y	N	-	1	0	KIDINS220	8836558	1.000000	0.71417	0.313000	0.25210	0.057000	0.15508	7.948000	0.87774	2.275000	0.75901	0.528000	0.53228	AAT		0.418	KIDINS220-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323408.2	NM_020738		9	88	0	0	0	1	0	9	88					A	8919107	T	A	8919107	3	1	247	1	0	0	0	0	1	0	0	0	8271	1754	61	5	2830	5	KIDINS220	2	8919107	Missense_Mutation	SNP	T	TCGA-HC-A6AQ-01A-11D-A30E-08		8919107	234280266	2	11607											
TUBA3D	113457	broad.mit.edu	37	chr2	132237644	132237644	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttgtgtggtttctctcaggcGgatctgtgcacaggactgca	6	13	13	9	1	3	0	1	0	2	0	4	2	3	2	0	4	2	3	0	4	0	2			TCGA-HC-A6AQ-01A-11D-A30E-08	TCGA-HC-A6AQ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	818ac005-a711-4c39-a06c-d103c59def26	91c131c3-f705-4867-8a15-2661ef72a6c1	g.chr2:132237644G>A	ENST00000321253.6	+	4	485	c.378G>A	c.(376-378)gcG>gcA	p.A126A	TUBA3D_ENST00000409047.2_3'UTR	NM_080386.3	NP_525125.2	Q13748	TBA3C_HUMAN	tubulin, alpha 3d	126					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|microtubule-based process (GO:0007017)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	32				BRCA - Breast invasive adenocarcinoma(221;0.13)		TCTCTCAGGCGGATCTGTGCA	0.577																																					Ovarian(137;2059 2432 35543 39401)	ENST00000321253.6																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	32						c.(376-378)gcG>gcA		tubulin, alpha 3d							43	47	45					2																	132237644		2203	4300	6503	SO:0001819	synonymous_variant	113457				'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity	g.chr2:132237644G>A	K03460	CCDS33290.1	2q21.1	2007-03-16			ENSG00000075886	ENSG00000075886		"Tubulins"	24071	protein-coding gene	gene with protein product	"alpha-tubulin isotype H2-alpha"					3785200	Standard	NM_080386		Approved	H2-ALPHA	uc002tsu.4	Q13748	OTTHUMG00000153600	ENST00000321253.6:c.378G>A	2.37:g.132237644G>A						TUBA3D_ENST00000409047.2_3'UTR	p.A126A	NM_080386.3	NP_525125.2	Q13748	TBA3C_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.13)	4	485	+			126					A6NJQ0|Q5W099|Q6PEY3|Q96F18	Silent	SNP	ENST00000321253.6	37	c.378G>A	CCDS33290.1																																																																																				0.577	TUBA3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331800.2	NM_080386		4	57	0	0	0	1	0	4	57					A	132237644	G	A	132237644	2	1	247	1	0	0	0	0	0	0	0	1	16744	1103	39	2		2	TUBA3D	2	132237644	Silent	SNP	G	TCGA-HC-A6AQ-01A-11D-A30E-08	123318537	132237644	110961729	3	11608											
TRANK1	9881	broad.mit.edu	37	chr3	36874403	36874403	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttgccaccaagttcattttcGactgaactaaacacttggct	11	13	6	11	1	1	1	1	1	0	0	2	2	1	1	2	1	3	2	2	1	4	6			TCGA-HC-A6AQ-01A-11D-A30E-08	TCGA-HC-A6AQ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	818ac005-a711-4c39-a06c-d103c59def26	91c131c3-f705-4867-8a15-2661ef72a6c1	g.chr3:36874403G>A	ENST00000429976.2	-	21	6786	c.6539C>T	c.(6538-6540)tCg>tTg	p.S2180L	TRANK1_ENST00000301807.6_Missense_Mutation_p.S1630L|TRANK1_ENST00000428977.2_Missense_Mutation_p.S1630L	NM_014831.2	NP_055646.2	O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	2180							ATP binding (GO:0005524)|hydrolase activity (GO:0016787)			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						GTTCATTTTCGACTGAACTAA	0.383																																						ENST00000429976.2																			0				NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						c.(6538-6540)tCg>tTg		tetratricopeptide repeat and ankyrin repeat containing 1							33	32	32					3																	36874403		1869	4091	5960	SO:0001583	missense	9881				DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding	g.chr3:36874403G>A	AK096678	CCDS46789.1, CCDS46789.2	3p22.2	2013-01-11			ENSG00000168016	ENSG00000168016		"Ankyrin repeat domain containing", "Tetratricopeptide (TTC) repeat domain containing"	29011	protein-coding gene	gene with protein product	"lupus brain antigen 1", "KIAA0342"					9205841	Standard	NM_014831		Approved	LBA1, KIAA0342	uc003cgj.3	O15050	OTTHUMG00000155848	ENST00000429976.2:c.6539C>T	3.37:g.36874403G>A	ENSP00000416168:p.Ser2180Leu					TRANK1_ENST00000428977.2_Missense_Mutation_p.S1630L|TRANK1_ENST00000301807.6_Missense_Mutation_p.S1630L	p.S2180L			O15050	TRNK1_HUMAN			21	6786	-			2180					Q8N8K0	Missense_Mutation	SNP	ENST00000429976.2	37	c.6539C>T	CCDS46789.2	.	.	.	.	.	.	.	.	.	.	G	7.542	0.660934	0.14645	.	.	ENSG00000168016	ENST00000428977;ENST00000429976;ENST00000301807	T;T;T	0.30981	1.51;1.92;1.51	5.15	4.28	0.50868	.	0.719065	0.11837	N	0.524602	T	0.19725	0.0474	L	0.29908	0.895	0.28738	N	0.902145	D	0.54772	0.968	B	0.35073	0.195	T	0.05068	-1.0908	10	0.48119	T	0.1	.	10.3726	0.44064	0.0784:0.1712:0.7504:0.0	.	2180	O15050	TRNK1_HUMAN	L	1630;2180;1630	ENSP00000416826:S1630L;ENSP00000416168:S2180L;ENSP00000301807:S1630L	ENSP00000301807:S1630L	S	-	2	0	TRANK1	36849407	0.990000	0.36364	1.000000	0.80357	0.121000	0.20230	2.059000	0.41384	1.325000	0.45301	-0.226000	0.12346	TCG		0.383	TRANK1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_014831		4	13	0	0	0	1	0	4	13					A	36874403	G	A	36874403	3	1	247	1	0	0	0	0	1	0	0	0	16451	1059	37	2	2250	2	TRANK1	3	36874403	Missense_Mutation	SNP	G	TCGA-HC-A6AQ-01A-11D-A30E-08		36874403	161148027	4	11609											
POLQ	10721	broad.mit.edu	37	chr3	121208992	121208992	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atgttaattttttataagaaCtcttagtttgggatataaat	14	19	6	2	0	1	1	0	0	1	1	1	2	1	2	0	1	1	2	0	1	8	9			TCGA-HC-A6AQ-01A-11D-A30E-08	TCGA-HC-A6AQ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	818ac005-a711-4c39-a06c-d103c59def26	91c131c3-f705-4867-8a15-2661ef72a6c1	g.chr3:121208992C>G	ENST00000264233.5	-	16	2914	c.2786G>C	c.(2785-2787)aGt>aCt	p.S929T		NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN	polymerase (DNA directed), theta	929					ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)	nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|damaged DNA binding (GO:0003684)|DNA-directed DNA polymerase activity (GO:0003887)|single-stranded DNA-dependent ATPase activity (GO:0043142)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		TTTATAAGAACTCTTAGTTTG	0.313								DNA polymerases (catalytic subunits)																													Pancreas(152;907 1925 26081 31236 36904)	ENST00000264233.5																			0				NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120						c.(2785-2787)aGt>aCt	DNA polymerases (catalytic subunits)	polymerase (DNA directed), theta							53	51	52					3																	121208992		2203	4300	6503	SO:0001583	missense	10721				DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity	g.chr3:121208992C>G	AF052573	CCDS33833.1	3q13.3	2012-05-18			ENSG00000051341	ENSG00000051341	2.7.7.7	"DNA polymerases"	9186	protein-coding gene	gene with protein product		604419				10395804	Standard	NM_199420		Approved	POLH	uc003eee.4	O75417	OTTHUMG00000159396	ENST00000264233.5:c.2786G>C	3.37:g.121208992C>G	ENSP00000264233:p.Ser929Thr						p.S929T	NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN		GBM - Glioblastoma multiforme(114;0.0915)	16	2914	-			929					O95160|Q6VMB5	Missense_Mutation	SNP	ENST00000264233.5	37	c.2786G>C	CCDS33833.1	.	.	.	.	.	.	.	.	.	.	C	7.589	0.670348	0.14776	.	.	ENSG00000051341	ENST00000543272;ENST00000264233;ENST00000393672	T	0.50001	0.76	5.62	1.84	0.25277	.	1.006310	0.07977	N	0.984911	T	0.35307	0.0927	L	0.29908	0.895	0.09310	N	1	B;B	0.32467	0.19;0.372	B;B	0.33392	0.05;0.163	T	0.25047	-1.0143	10	0.25751	T	0.34	.	8.7172	0.34419	0.0:0.705:0.0:0.295	.	929;101	O75417;O75417-2	DPOLQ_HUMAN;.	T	552;929;1065	ENSP00000264233:S929T	ENSP00000264233:S929T	S	-	2	0	POLQ	122691682	0.000000	0.05858	0.003000	0.11579	0.336000	0.28762	-0.383000	0.07398	0.337000	0.23665	-0.259000	0.10710	AGT		0.313	POLQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355097.1	NM_199420		3	29	0	0	0	1	0	3	29					G	121208992	C	G	121208992	3	3	247	1	0	0	0	0	1	0	0	0	12208	565	20	5	5046	5	POLQ	3	121208992	Missense_Mutation	SNP	C	TCGA-HC-A6AQ-01A-11D-A30E-08	84334589	121208992	76813438	5	11610											
KBTBD12	166348	broad.mit.edu	37	chr3	127646682	127646682	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gaactctatgctctgggcagTattcataatgacctttatgt	10	15	8	8	0	3	1	1	1	2	0	3	2	3	1	1	1	2	3	1	1	5	6			TCGA-HC-A6AQ-01A-11D-A30E-08	TCGA-HC-A6AQ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	818ac005-a711-4c39-a06c-d103c59def26	91c131c3-f705-4867-8a15-2661ef72a6c1	g.chr3:127646682T>C	ENST00000405109.1	+	3	1613	c.1146T>C	c.(1144-1146)agT>agC	p.S382S	KBTBD12_ENST00000407609.3_5'UTR|KBTBD12_ENST00000343941.4_Intron|KBTBD12_ENST00000492025.1_Intron|KBTBD12_ENST00000405256.1_Silent_p.S382S			Q3ZCT8	KBTBC_HUMAN	kelch repeat and BTB (POZ) domain containing 12	382										endometrium(1)|large_intestine(6)|lung(5)|ovary(1)	13						CTCTGGGCAGTATTCATAATG	0.368																																						ENST00000405109.1																			0				endometrium(1)|large_intestine(6)|lung(5)|ovary(1)	13						c.(1144-1146)agT>agC		kelch repeat and BTB (POZ) domain containing 12							133	141	138					3																	127646682		2203	4300	6503	SO:0001819	synonymous_variant	166348							g.chr3:127646682T>C		CCDS33848.2	3q21.3	2013-01-08	2009-10-01	2009-10-01	ENSG00000187715	ENSG00000187715		"BTB/POZ domain containing"	25731	protein-coding gene	gene with protein product			"kelch domain containing 6"	KLHDC6			Standard	NM_207335		Approved	FLJ46299	uc010hsr.3	Q3ZCT8	OTTHUMG00000150508	ENST00000405109.1:c.1146T>C	3.37:g.127646682T>C						KBTBD12_ENST00000407609.3_5'UTR|KBTBD12_ENST00000405256.1_Silent_p.S382S|KBTBD12_ENST00000492025.1_Intron|KBTBD12_ENST00000343941.4_Intron	p.S382S			Q3ZCT8	KBTBC_HUMAN			3	1613	+			382					B5MCC6|Q6ZRK1	Silent	SNP	ENST00000405109.1	37	c.1146T>C	CCDS33848.2																																																																																				0.368	KBTBD12-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318682.1	NM_207335		8	86	0	0	0	1	0	8	86					C	127646682	T	C	127646682	2	2	247	1	0	0	0	0	0	0	0	1	7991	1635	57	4		4	KBTBD12	3	127646682	Silent	SNP	T	TCGA-HC-A6AQ-01A-11D-A30E-08	6437690	127646682	70375748	6	11611											
RAB3C	115827	broad.mit.edu	37	chr5	57913641	57913641	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcgtcagcacagttgggatcGatttcaaagtaaaaactgta	14	11	9	7	2	2	0	2	0	0	0	4	2	2	1	0	1	2	4	0	1	5	4			TCGA-HC-A6AQ-01A-11D-A30E-08	TCGA-HC-A6AQ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	818ac005-a711-4c39-a06c-d103c59def26	91c131c3-f705-4867-8a15-2661ef72a6c1	g.chr5:57913641G>A	ENST00000282878.4	+	2	365	c.196G>A	c.(196-198)Gat>Aat	p.D66N		NM_138453.2	NP_612462.1	Q96E17	RAB3C_HUMAN	RAB3C, member RAS oncogene family	66					antigen processing and presentation (GO:0019882)|GTP catabolic process (GO:0006184)|protein transport (GO:0015031)|regulation of exocytosis (GO:0017157)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)|vesicle (GO:0031982)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|myosin V binding (GO:0031489)	p.D66N(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(6)|ovary(1)	21		all_cancers(5;9.93e-10)|all_epithelial(5;1.49e-10)|all_lung(5;8.97e-05)|Lung NSC(5;0.000139)|Prostate(74;0.0664)		OV - Ovarian serous cystadenocarcinoma(10;1.8e-34)		AGTTGGGATCGATTTCAAAGT	0.408																																						ENST00000282878.4																			1	Substitution - Missense(1)	p.D66N(1)	large_intestine(1)	breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(6)|ovary(1)	21						c.(196-198)Gat>Aat		RAB3C, member RAS oncogene family							57	52	54					5																	57913641		2203	4299	6502	SO:0001583	missense	115827				protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding	g.chr5:57913641G>A	AY026936	CCDS3976.1	5q13	2008-02-05			ENSG00000152932	ENSG00000152932		"RAB, member RAS oncogene"	30269	protein-coding gene	gene with protein product		612829				12296628	Standard	NM_138453		Approved		uc003jrp.3	Q96E17	OTTHUMG00000097053	ENST00000282878.4:c.196G>A	5.37:g.57913641G>A	ENSP00000282878:p.Asp66Asn						p.D66N	NM_138453.2	NP_612462.1	Q96E17	RAB3C_HUMAN		OV - Ovarian serous cystadenocarcinoma(10;1.8e-34)	2	365	+		all_cancers(5;9.93e-10)|all_epithelial(5;1.49e-10)|all_lung(5;8.97e-05)|Lung NSC(5;0.000139)|Prostate(74;0.0664)	66						Missense_Mutation	SNP	ENST00000282878.4	37	c.196G>A	CCDS3976.1	.	.	.	.	.	.	.	.	.	.	G	35	5.486112	0.96323	.	.	ENSG00000152932	ENST00000282878	D	0.83335	-1.71	5.7	5.7	0.88788	Small GTP-binding protein domain (1);	0.000000	0.64402	D	0.000001	D	0.91600	0.7346	M	0.79123	2.44	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	D	0.91959	0.5577	10	0.87932	D	0	-21.409	19.8247	0.96612	0.0:0.0:1.0:0.0	.	66	Q96E17	RAB3C_HUMAN	N	66	ENSP00000282878:D66N	ENSP00000282878:D66N	D	+	1	0	RAB3C	57949398	1.000000	0.71417	0.998000	0.56505	0.963000	0.63663	9.869000	0.99810	2.696000	0.92011	0.655000	0.94253	GAT		0.408	RAB3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214156.2	NM_138453		5	26	0	0	0	1	0	5	26					A	57913641	G	A	57913641	3	1	247	1	0	0	0	0	1	0	0	0	12933	1058	37	2	202	2	RAB3C	5	57913641	Missense_Mutation	SNP	G	TCGA-HC-A6AQ-01A-11D-A30E-08		57913641	123001619	7	11612											
TRPC7	57113	broad.mit.edu	37	chr5	135561808	135561808	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagttttatgaggcacatctTgattctcattatgagataat	12	16	8	5	0	2	3	1	3	2	1	3	5	2	3	0	1	0	2	0	1	3	6			TCGA-HC-A6AQ-01A-11D-A30E-08	TCGA-HC-A6AQ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	818ac005-a711-4c39-a06c-d103c59def26	91c131c3-f705-4867-8a15-2661ef72a6c1	g.chr5:135561808T>G	ENST00000513104.1	-	9	2458	c.2176A>C	c.(2176-2178)Aag>Cag	p.K726Q	TRPC7_ENST00000355180.3_Missense_Mutation_p.K665Q|TRPC7_ENST00000426057.2_Missense_Mutation_p.K610Q	NM_020389.2	NP_065122.1	Q9HCX4	TRPC7_HUMAN	transient receptor potential cation channel, subfamily C, member 7	726					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|manganese ion transport (GO:0006828)|platelet activation (GO:0030168)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3)	46			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			AGGCACATCTTGATTCTCATT	0.378																																						ENST00000513104.1																			0				NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3)	46						c.(2176-2178)Aag>Cag		transient receptor potential cation channel, subfamily C, member 7							77	70	72					5																	135561808		1867	4095	5962	SO:0001583	missense	57113				axon guidance|platelet activation	integral to membrane|plasma membrane	calcium channel activity|protein binding	g.chr5:135561808T>G	AJ272034	CCDS47267.1, CCDS47267.2, CCDS54905.1, CCDS54906.1	5q31.2	2011-12-14			ENSG00000069018	ENSG00000069018		"Voltage-gated ion channels / Transient receptor potential cation channels"	20754	protein-coding gene	gene with protein product						11805119, 16382100	Standard	NM_020389		Approved		uc003lbn.2	Q9HCX4	OTTHUMG00000162035	ENST00000513104.1:c.2176A>C	5.37:g.135561808T>G	ENSP00000426070:p.Lys726Gln					TRPC7_ENST00000426057.2_Missense_Mutation_p.K610Q|TRPC7_ENST00000355180.3_Missense_Mutation_p.K665Q	p.K726Q	NM_020389.2	NP_065122.1	Q9HCX4	TRPC7_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)		9	2458	-			726					A1A4Z4|F5H5U9|Q70T26|Q8IWP7	Missense_Mutation	SNP	ENST00000513104.1	37	c.2176A>C	CCDS47267.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	23.5|23.5	4.418671|4.418671	0.83559|0.83559	.|.	.|.	ENSG00000069018|ENSG00000069018	ENST00000355180;ENST00000426057;ENST00000513104;ENST00000265193|ENST00000352189;ENST00000378459;ENST00000502753	D;D;D|.	0.85773|.	-2.03;-2.03;-2.03|.	4.99|4.99	4.99|4.99	0.66335|0.66335	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.63414|0.63414	0.2509|0.2509	L|L	0.52126|0.52126	1.63|1.63	0.42859|0.42859	D|D	0.994105|0.994105	P;B;B;B|.	0.37985|.	0.613;0.186;0.382;0.382|.	B;B;B;B|.	0.41466|.	0.358;0.182;0.206;0.146|.	T|T	0.62272|0.62272	-0.6889|-0.6889	10|5	0.38643|.	T|.	0.18|.	-24.4053|-24.4053	14.8563|14.8563	0.70341|0.70341	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	610;665;671;726|.	Q8IWP7;F5H5U9;Q70T25;Q9HCX4|.	.;.;.;TRPC7_HUMAN|.	Q|P	665;610;726;726|609;664;670	ENSP00000347312:K665Q;ENSP00000441628:K610Q;ENSP00000426070:K726Q|.	ENSP00000265193:K726Q|.	K|Q	-|-	1|2	0|0	TRPC7|TRPC7	135589707|135589707	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	7.093000|7.093000	0.76937|0.76937	2.094000|2.094000	0.63399|0.63399	0.482000|0.482000	0.46254|0.46254	AAG|CAA		0.378	TRPC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366975.1	NM_020389		3	8	0	0	0	1	0	3	8					G	135561808	T	G	135561808	3	3	247	1	0	0	0	0	1	0	0	0	16581	1821	63	5	428	5	TRPC7	5	135561808	Missense_Mutation	SNP	T	TCGA-HC-A6AQ-01A-11D-A30E-08	77648167	135561808	45353452	8	11613											
BTN1A1	696	broad.mit.edu	37	chr6	26509216	26509216	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttcttttgcctatggtctagCggtaaaaagcccctgaccat	9	13	8	11	1	2	1	0	1	2	0	2	1	2	1	4	2	3	1	4	2	5	6	rs141533174	byFrequency	TCGA-HC-A6AQ-01A-11D-A30E-08	TCGA-HC-A6AQ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	818ac005-a711-4c39-a06c-d103c59def26	91c131c3-f705-4867-8a15-2661ef72a6c1	g.chr6:26509216C>T	ENST00000244513.6	+	7	1461	c.1395C>T	c.(1393-1395)agC>agT	p.S465S		NM_001732.2	NP_001723.2	Q13410	BT1A1_HUMAN	butyrophilin, subfamily 1, member A1	465	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.					extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)	receptor activity (GO:0004872)			endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|skin(1)|soft_tissue(1)|urinary_tract(1)	26						TATGGTCTAGCGGTAAAAAGC	0.493													C|||	12	0.00239617	0.0091	0	5008	,	,		17991	0		0	False		,,,				2504	0					ENST00000244513.6																			0				endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|skin(1)|soft_tissue(1)|urinary_tract(1)	26						c.(1393-1395)agC>agT		butyrophilin, subfamily 1, member A1		C		21,4385	28.1+/-56.4	0,21,2182	75	72	73		1395	0.6	1	6	dbSNP_134	73	0,8600		0,0,4300	no	coding-synonymous	BTN1A1	NM_001732.2		0,21,6482	TT,TC,CC		0.0,0.4766,0.1615		465/527	26509216	21,12985	2203	4300	6503	SO:0001819	synonymous_variant	696					extracellular region|integral to plasma membrane	receptor activity	g.chr6:26509216C>T	U39576	CCDS4614.1	6p22.1	2014-01-14			ENSG00000124557	ENSG00000124557		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Butyrophilins"	1135	protein-coding gene	gene with protein product		601610		BTN		8114113, 9382921	Standard	NM_001732		Approved	BT, BTN1	uc003nif.4	Q13410	OTTHUMG00000016358	ENST00000244513.6:c.1395C>T	6.37:g.26509216C>T							p.S465S	NM_001732.2	NP_001723.2	Q13410	BT1A1_HUMAN			7	1461	+			465			B30.2/SPRY.		Q4VAN3|Q4VAN4|Q9H458	Silent	SNP	ENST00000244513.6	37	c.1395C>T	CCDS4614.1																																																																																				0.493	BTN1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043776.1	NM_001732		4	62	0	0	0	1	0	4	62					T	26509216	C	T	26509216	2	4	247	1	0	0	0	0	0	0	0	1	1559	767	27	1		1	BTN1A1	6	26509216	Silent	SNP	C	TCGA-HC-A6AQ-01A-11D-A30E-08		26509216	144605851	9	11614											
ME1	4199	broad.mit.edu	37	chr6	83963441	83963441	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaaatcttcaaactgaataaGgcaattcatgccatacctat	17	11	4	9	0	3	1	2	1	1	0	3	1	3	1	2	1	3	1	2	1	8	5			TCGA-HC-A6AQ-01A-11D-A30E-08	TCGA-HC-A6AQ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	818ac005-a711-4c39-a06c-d103c59def26	91c131c3-f705-4867-8a15-2661ef72a6c1	g.chr6:83963441G>A	ENST00000369705.3	-	7	837	c.721C>T	c.(721-723)Ctt>Ttt	p.L241F	ME1_ENST00000541327.1_Missense_Mutation_p.L75F|ME1_ENST00000543031.1_Missense_Mutation_p.L166F	NM_002395.4	NP_002386.1	P48163	MAOX_HUMAN	malic enzyme 1, NADP(+)-dependent, cytosolic	241					carbohydrate metabolic process (GO:0005975)|cellular lipid metabolic process (GO:0044255)|malate metabolic process (GO:0006108)|NADP biosynthetic process (GO:0006741)|protein tetramerization (GO:0051262)|response to carbohydrate (GO:0009743)|response to hormone (GO:0009725)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	ADP binding (GO:0043531)|electron carrier activity (GO:0009055)|malate dehydrogenase (decarboxylating) (NAD+) activity (GO:0004471)|malate dehydrogenase (decarboxylating) (NADP+) activity (GO:0004473)|malic enzyme activity (GO:0004470)|manganese ion binding (GO:0030145)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|oxaloacetate decarboxylase activity (GO:0008948)			NS(2)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36		all_cancers(76;1.28e-06)|Acute lymphoblastic leukemia(125;5.03e-07)|all_hematologic(105;0.000238)|all_epithelial(107;0.00218)		BRCA - Breast invasive adenocarcinoma(397;0.0641)		AACTGAATAAGGCAATTCATG	0.308																																						ENST00000369705.3																			0				NS(2)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						c.(721-723)Ctt>Ttt		malic enzyme 1, NADP(+)-dependent, cytosolic	NADH(DB00157)						121	110	114					6																	83963441		2203	4299	6502	SO:0001583	missense	4199				carbohydrate metabolic process|cellular lipid metabolic process|malate metabolic process|NADP biosynthetic process|response to carbohydrate stimulus|response to hormone stimulus	cytosol	ADP binding|electron carrier activity|malate dehydrogenase (oxaloacetate-decarboxylating) (NADP+) activity|manganese ion binding|NAD binding|NADP binding	g.chr6:83963441G>A	X77244	CCDS34492.1	6q12	2012-10-02			ENSG00000065833	ENSG00000065833	1.1.1.40		6983	protein-coding gene	gene with protein product		154250				8187880	Standard	NM_002395		Approved		uc003pjy.3	P48163	OTTHUMG00000015111	ENST00000369705.3:c.721C>T	6.37:g.83963441G>A	ENSP00000358719:p.Leu241Phe					ME1_ENST00000543031.1_Missense_Mutation_p.L166F|ME1_ENST00000541327.1_Missense_Mutation_p.L75F	p.L241F	NM_002395.4	NP_002386.1	P48163	MAOX_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.0641)	7	837	-		all_cancers(76;1.28e-06)|Acute lymphoblastic leukemia(125;5.03e-07)|all_hematologic(105;0.000238)|all_epithelial(107;0.00218)	241					B4DZ70|Q16797|Q16855|Q53F72|Q5VWA2|Q9BWX8|Q9H1W3|Q9UIY4	Missense_Mutation	SNP	ENST00000369705.3	37	c.721C>T	CCDS34492.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.115525	0.77323	.	.	ENSG00000065833	ENST00000369705;ENST00000541327;ENST00000543031	T;T;T	0.48522	0.81;0.81;0.81	5.53	5.53	0.82687	Malic enzyme, N-terminal (2);	0.000000	0.85682	D	0.000000	T	0.66208	0.2766	M	0.79475	2.455	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.70063	-0.4975	10	0.87932	D	0	-21.9779	18.2288	0.89927	0.0:0.0:1.0:0.0	.	241	P48163	MAOX_HUMAN	F	241;75;166	ENSP00000358719:L241F;ENSP00000439912:L75F;ENSP00000446114:L166F	ENSP00000358719:L241F	L	-	1	0	ME1	84020160	1.000000	0.71417	1.000000	0.80357	0.847000	0.48162	7.870000	0.87175	2.602000	0.87976	0.460000	0.39030	CTT		0.308	ME1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041350.1			4	35	0	0	0	1	0	4	35					A	83963441	G	A	83963441	3	1	247	1	0	0	0	0	1	0	0	0	9417	1000	35	3	1029	3	ME1	6	83963441	Missense_Mutation	SNP	G	TCGA-HC-A6AQ-01A-11D-A30E-08	57454225	83963441	87151626	10	11615											
KCNB2	9312	broad.mit.edu	37	chr8	73849324	73849324	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gaagagattgaaatggaagaAgtggtgtgtccacaggagca	15	7	15	4	0	0	3	0	1	0	2	1	7	1	5	1	3	1	1	1	3	4	1			TCGA-HC-A6AQ-01A-11D-A30E-08	TCGA-HC-A6AQ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	818ac005-a711-4c39-a06c-d103c59def26	91c131c3-f705-4867-8a15-2661ef72a6c1	g.chr8:73849324A>C	ENST00000523207.1	+	3	2322	c.1734A>C	c.(1732-1734)gaA>gaC	p.E578D		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	578					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of smooth muscle contraction (GO:0006940)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)		Dalfampridine(DB06637)	AAATGGAAGAAGTGGTGTGTC	0.527																																						ENST00000523207.1																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85						c.(1732-1734)gaA>gaC		potassium voltage-gated channel, Shab-related subfamily, member 2							73	67	69					8																	73849324		2203	4300	6503	SO:0001583	missense	9312				regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding	g.chr8:73849324A>C	U69962	CCDS6209.1	8q13.2	2012-07-05			ENSG00000182674	ENSG00000182674		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6232	protein-coding gene	gene with protein product		607738				9612272, 16382104	Standard	NM_004770		Approved	Kv2.2	uc003xzb.3	Q92953	OTTHUMG00000164498	ENST00000523207.1:c.1734A>C	8.37:g.73849324A>C	ENSP00000430846:p.Glu578Asp						p.E578D	NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	Epithelial(68;0.105)		3	2322	+	Breast(64;0.137)		578					Q7Z7D0|Q9BXD3	Missense_Mutation	SNP	ENST00000523207.1	37	c.1734A>C	CCDS6209.1	.	.	.	.	.	.	.	.	.	.	A	14.75	2.628318	0.46944	.	.	ENSG00000182674	ENST00000523207	T	0.25912	1.77	4.93	-0.705	0.11252	.	0.669254	0.12265	N	0.484328	T	0.30166	0.0756	L	0.50333	1.59	0.30551	N	0.765414	P	0.42010	0.768	P	0.50192	0.634	T	0.34403	-0.9830	10	0.19147	T	0.46	.	11.0332	0.47785	0.4712:0.0:0.5288:0.0	.	578	Q92953	KCNB2_HUMAN	D	578	ENSP00000430846:E578D	ENSP00000430846:E578D	E	+	3	2	KCNB2	74011878	0.636000	0.27207	0.993000	0.49108	0.988000	0.76386	-0.295000	0.08298	-0.338000	0.08413	0.533000	0.62120	GAA		0.527	KCNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378998.1	NM_004770		6	49	0	0	0	1	0	6	49					C	73849324	A	C	73849324	3	2	247	1	0	0	0	0	1	0	0	0	8013	69	3	5	1740	5	KCNB2	8	73849324	Missense_Mutation	SNP	A	TCGA-HC-A6AQ-01A-11D-A30E-08		73849324	72514698	11	11616											
KCNS2	3788	broad.mit.edu	37	chr8	99441254	99441254	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctccgtggtggcctacacCattgaaaaggaggagaacga	12	8	12	9	2	1	2	0	1	1	1	2	5	1	3	3	4	2	0	3	4	4	3			TCGA-HC-A6AQ-01A-11D-A30E-08	TCGA-HC-A6AQ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	818ac005-a711-4c39-a06c-d103c59def26	91c131c3-f705-4867-8a15-2661ef72a6c1	g.chr8:99441254C>T	ENST00000287042.4	+	2	1397	c.1047C>T	c.(1045-1047)acC>acT	p.T349T	KCNS2_ENST00000521839.1_Silent_p.T349T	NM_020697.2	NP_065748.1	Q9ULS6	KCNS2_HUMAN	potassium voltage-gated channel, delayed-rectifier, subfamily S, member 2	349					protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)	p.T349T(1)		autonomic_ganglia(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	31	Breast(36;2.4e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.0448)			TGGCCTACACCATTGAAAAGG	0.582																																					Pancreas(138;844 2489 9202 24627)	ENST00000287042.4																			1	Substitution - coding silent(1)	p.T349T(1)	endometrium(1)	autonomic_ganglia(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	31						c.(1045-1047)acC>acT		potassium voltage-gated channel, delayed-rectifier, subfamily S, member 2							90	81	84					8																	99441254		2203	4300	6503	SO:0001819	synonymous_variant	3788					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr8:99441254C>T	AB032970	CCDS6279.1	8q22	2011-07-05			ENSG00000156486	ENSG00000156486		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6301	protein-coding gene	gene with protein product		602906				9305895, 16382104	Standard	NM_020697		Approved	Kv9.2	uc003yin.3	Q9ULS6	OTTHUMG00000044337	ENST00000287042.4:c.1047C>T	8.37:g.99441254C>T						KCNS2_ENST00000521839.1_Silent_p.T349T	p.T349T	NM_020697.2	NP_065748.1	Q9ULS6	KCNS2_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.0448)		2	1397	+	Breast(36;2.4e-06)		349					A8KAN1	Silent	SNP	ENST00000287042.4	37	c.1047C>T	CCDS6279.1																																																																																				0.582	KCNS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103134.1	NM_020697		4	47	0	0	0	1	0	4	47					T	99441254	C	T	99441254	2	4	247	1	0	0	0	0	0	0	0	1	8089	581	21	3		3	KCNS2	8	99441254	Silent	SNP	C	TCGA-HC-A6AQ-01A-11D-A30E-08	25591930	99441254	46922768	12	11617											
COLEC10	10584	broad.mit.edu	37	chr8	120114623	120114623	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aggtttgcttggaatacctgGagaaaaaggcaaagcaggta	15	8	13	5	0	0	1	0	0	0	1	0	3	0	2	1	5	3	5	1	5	6	4			TCGA-HC-A6AQ-01A-11D-A30E-08	TCGA-HC-A6AQ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	818ac005-a711-4c39-a06c-d103c59def26	91c131c3-f705-4867-8a15-2661ef72a6c1	g.chr8:120114623G>T	ENST00000332843.2	+	4	370	c.329G>T	c.(328-330)gGa>gTa	p.G110V	COLEC10_ENST00000521788.1_3'UTR	NM_006438.3	NP_006429.2	Q9Y6Z7	COL10_HUMAN	collectin sub-family member 10 (C-type lectin)	110	Collagen-like.					collagen trimer (GO:0005581)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)	mannose binding (GO:0005537)			endometrium(2)|kidney(3)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	21	all_cancers(13;4.13e-26)|Lung NSC(37;1.36e-07)|Ovarian(258;0.018)|Hepatocellular(40;0.234)		STAD - Stomach adenocarcinoma(47;0.00113)			GGAATACCTGGAGAAAAAGGC	0.289																																						ENST00000332843.2																			0				endometrium(2)|kidney(3)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	21						c.(328-330)gGa>gTa		collectin sub-family member 10 (C-type lectin)							108	113	111					8																	120114623		2203	4300	6503	SO:0001583	missense	10584					collagen|cytoplasm	mannose binding	g.chr8:120114623G>T	AB002631	CCDS6327.1	8q23-q24.1	2007-12-19				ENSG00000184374		"Collectins"	2220	protein-coding gene	gene with protein product		607620				10224141	Standard	NM_006438		Approved	CL-L1	uc003yoo.3	Q9Y6Z7		ENST00000332843.2:c.329G>T	8.37:g.120114623G>T	ENSP00000332723:p.Gly110Val					COLEC10_ENST00000521788.1_3'UTR	p.G110V	NM_006438.3	NP_006429.2	Q9Y6Z7	COL10_HUMAN	STAD - Stomach adenocarcinoma(47;0.00113)		4	370	+	all_cancers(13;4.13e-26)|Lung NSC(37;1.36e-07)|Ovarian(258;0.018)|Hepatocellular(40;0.234)		110			Collagen-like.		Q3SYH6|Q6UW19	Missense_Mutation	SNP	ENST00000332843.2	37	c.329G>T	CCDS6327.1	.	.	.	.	.	.	.	.	.	.	G	18.55	3.647520	0.67358	.	.	ENSG00000184374	ENST00000332843	D	0.99429	-5.89	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	D	0.99691	0.9883	H	0.95539	3.685	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97760	1.0220	10	0.62326	D	0.03	-13.4543	17.6494	0.88158	0.0:0.0:1.0:0.0	.	110	Q9Y6Z7	COL10_HUMAN	V	110	ENSP00000332723:G110V	ENSP00000332723:G110V	G	+	2	0	COLEC10	120183804	1.000000	0.71417	0.998000	0.56505	0.566000	0.35808	7.039000	0.76544	2.767000	0.95098	0.557000	0.71058	GGA		0.289	COLEC10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381225.1			10	23	1	0	1.58986e-06	1	1.76652e-06	10	23					T	120114623	G	T	120114623	3	4	247	1	0	0	0	0	1	0	0	0	3710	1174	41	5	343	5	COLEC10	8	120114623	Missense_Mutation	SNP	G	TCGA-HC-A6AQ-01A-11D-A30E-08	20673369	120114623	26249399	13	11618											
FLJ46321	389763	broad.mit.edu	37	chr9	84605947	84605947	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cagaagacctaatactgtccCctcggcctaaggcctctcca	10	8	7	16	1	1	2	0	0	1	2	4	2	2	2	6	2	1	0	6	2	4	3	rs367678939		TCGA-HC-A6AQ-01A-11D-A30E-08	TCGA-HC-A6AQ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	818ac005-a711-4c39-a06c-d103c59def26	91c131c3-f705-4867-8a15-2661ef72a6c1	g.chr9:84605947C>T	ENST00000344803.2	+	4	609	c.562C>T	c.(562-564)Cct>Tct	p.P188S		NM_001001670.2	NP_001001670.1	Q6ZQQ2	S31D1_HUMAN	SPATA31 subfamily D, member 1	188	Pro-rich.				cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											AATACTGTCCCCTCGGCCTAA	0.557													C|||	1	0.000199681	8e-04	0	5008	,	,		18857	0		0	False		,,,				2504	0					ENST00000344803.2																			0											c.(562-564)Cct>Tct		SPATA31 subfamily D, member 1		C	SER/PRO	0,3830		0,0,1915	115	115	115		562	-4.7	0	9		115	1,8263		0,1,4131	no	missense	FAM75D1	NM_001001670.2	74	0,1,6046	TT,TC,CC		0.0121,0.0,0.0083	benign	188/1577	84605947	1,12093	1915	4132	6047	SO:0001583	missense	389763							g.chr9:84605947C>T		CCDS47986.1	9q21.32	2012-10-12	2012-10-12	2012-10-12	ENSG00000214929	ENSG00000214929			37283	protein-coding gene	gene with protein product			"family with sequence similarity 75, member D1"	FAM75D1			Standard	NM_001001670		Approved	FLJ46321	uc004amn.3	Q6ZQQ2	OTTHUMG00000169122	ENST00000344803.2:c.562C>T	9.37:g.84605947C>T	ENSP00000341988:p.Pro188Ser						p.P188S	NM_001001670.2	NP_001001670.1					4	609	+									Missense_Mutation	SNP	ENST00000344803.2	37	c.562C>T	CCDS47986.1	.	.	.	.	.	.	.	.	.	.	C	1.971	-0.436428	0.04636	0.0	1.21E-4	ENSG00000214929	ENST00000344803	T	0.05025	3.51	3.1	-4.69	0.03299	.	0.587959	0.14316	N	0.327345	T	0.03136	0.0092	L	0.28115	0.83	0.09310	N	1	B	0.28178	0.202	B	0.25140	0.058	T	0.43426	-0.9392	10	0.02654	T	1	-0.14	10.3274	0.43801	0.0:0.2523:0.0:0.7477	.	188	Q6ZQQ2	F75D1_HUMAN	S	188	ENSP00000341988:P188S	ENSP00000341988:P188S	P	+	1	0	FAM75D1	83795767	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.368000	0.07543	-1.191000	0.02695	-0.151000	0.13558	CCT		0.557	SPATA31D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402325.1	NM_001001670		4	83	0	0	0	1	0	4	83					T	84605947	C	T	84605947	3	4	247	1	0	0	0	0	1	0	0	0	5932	623	22	3	576	3	FLJ46321	9	84605947	Missense_Mutation	SNP	C	TCGA-HC-A6AQ-01A-11D-A30E-08		84605947	56607484	14	11619											
XPA	7507	broad.mit.edu	37	chr9	100459525	100459525	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ccgaggcaggcagctccgcgGgttgctctaaagccgccgcc	6	5	14	16	5	1	0	0	0	1	0	2	1	2	0	5	3	3	5	5	3	2	2			TCGA-HC-A6AQ-01A-11D-A30E-08	TCGA-HC-A6AQ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	818ac005-a711-4c39-a06c-d103c59def26	91c131c3-f705-4867-8a15-2661ef72a6c1	g.chr9:100459525G>T	ENST00000375128.4	-	1	114	c.50C>A	c.(49-51)cCc>cAc	p.P17H	AL445531.1_ENST00000582499.1_RNA	NM_000380.3	NP_000371.1	P23025	XPA_HUMAN	xeroderma pigmentosum, complementation group A	17	Interaction with CEP164 and required for UV resistance.				DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|multicellular organism growth (GO:0035264)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|response to oxidative stress (GO:0006979)|response to toxic substance (GO:0009636)|response to UV (GO:0009411)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intercellular bridge (GO:0045171)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	damaged DNA binding (GO:0003684)|metal ion binding (GO:0046872)|protein domain specific binding (GO:0019904)|protein homodimerization activity (GO:0042803)			breast(1)|endometrium(4)|large_intestine(1)|lung(4)|prostate(1)	11		Acute lymphoblastic leukemia(62;0.158)				CAGCTCCGCGGGTTGCTCTAA	0.731			"Mis, N, F, S"			"skin basal cell, skin squamous cell, melanoma"		Nucleotide excision repair (NER)	Xeroderma Pigmentosum																													ENST00000375128.4			yes	Rec		Xeroderma pigmentosum (A)	9	9q22.3	7507	"Mis, N, F, S"	"xeroderma pigmentosum, complementation group A"			E		"skin basal cell, skin squamous cell, melanoma"			0				breast(1)|endometrium(4)|large_intestine(1)|lung(4)|prostate(1)	11						c.(49-51)cCc>cAc	Nucleotide excision repair (NER)	xeroderma pigmentosum, complementation group A							10	14	12					9																	100459525		1996	4021	6017	SO:0001583	missense	7507	Xeroderma Pigmentosum	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV	nucleotide-excision repair, DNA damage removal	nucleoplasm	damaged DNA binding|metal ion binding|nucleotide binding|protein domain specific binding|protein homodimerization activity	g.chr9:100459525G>T	D14533	CCDS6729.1	9q22.3	2014-09-17			ENSG00000136936	ENSG00000136936			12814	protein-coding gene	gene with protein product		611153					Standard	NM_000380		Approved	XPAC, XP1	uc004axr.4	P23025	OTTHUMG00000020330	ENST00000375128.4:c.50C>A	9.37:g.100459525G>T	ENSP00000364270:p.Pro17His						p.P17H	NM_000380.3	NP_000371.1	P23025	XPA_HUMAN			1	114	-		Acute lymphoblastic leukemia(62;0.158)	17			Interaction with CEP164 and required for UV resistance.		Q5T1U9|Q6LCW7|Q6LD02	Missense_Mutation	SNP	ENST00000375128.4	37	c.50C>A	CCDS6729.1	.	.	.	.	.	.	.	.	.	.	G	18.69	3.678654	0.68042	.	.	ENSG00000136936	ENST00000375128	T	0.60299	0.2	5.02	4.05	0.47172	.	0.553648	0.19496	N	0.112856	T	0.50973	0.1647	L	0.51422	1.61	0.09310	N	1	P	0.45283	0.855	B	0.40901	0.343	T	0.51317	-0.8721	10	0.48119	T	0.1	.	11.769	0.51947	0.0:0.0:0.8241:0.1759	.	17	P23025	XPA_HUMAN	H	17	ENSP00000364270:P17H	ENSP00000364270:P17H	P	-	2	0	XPA	99499346	0.073000	0.21202	0.024000	0.17045	0.633000	0.38033	2.382000	0.44345	2.503000	0.84419	0.462000	0.41574	CCC		0.731	XPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053332.1	NM_000380		3	26	1	0	0.004672	1	0.00505081	3	26					T	100459525	G	T	100459525	3	4	247	1	0	0	0	0	1	0	0	0	17437	1232	43	5	795	5	XPA	9	100459525	Missense_Mutation	SNP	G	TCGA-HC-A6AQ-01A-11D-A30E-08	15853578	100459525	40753906	15	11620											
GPR158	57512	broad.mit.edu	37	chr10	25887040	25887040	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	accacgtgagagaccaaacgGaagagtccagtagcctaccc	14	4	10	13	2	0	3	0	1	0	2	1	5	1	4	5	1	3	1	5	1	4	2	rs200489721		TCGA-HC-A6AQ-01A-11D-A30E-08	TCGA-HC-A6AQ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	818ac005-a711-4c39-a06c-d103c59def26	91c131c3-f705-4867-8a15-2661ef72a6c1	g.chr10:25887040G>A	ENST00000376351.3	+	11	2844	c.2485G>A	c.(2485-2487)Gaa>Aaa	p.E829K	GPR158_ENST00000490549.1_3'UTR	NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158	829					protein localization to plasma membrane (GO:0072659)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						AGACCAAACGGAAGAGTCCAG	0.463																																						ENST00000376351.3																			0				breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						c.(2485-2487)Gaa>Aaa		G protein-coupled receptor 158							119	130	126					10																	25887040		2203	4300	6503	SO:0001583	missense	57512					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr10:25887040G>A	AB032962	CCDS31166.1	10p12.31	2012-08-21			ENSG00000151025	ENSG00000151025		"GPCR / Class C : Orphans"	23689	protein-coding gene	gene with protein product		614573					Standard	NM_020752		Approved	KIAA1136	uc001isj.3	Q5T848	OTTHUMG00000017832	ENST00000376351.3:c.2485G>A	10.37:g.25887040G>A	ENSP00000365529:p.Glu829Lys					GPR158_ENST00000490549.1_3'UTR	p.E829K	NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN			11	2844	+			829					Q6QR81|Q9ULT3	Missense_Mutation	SNP	ENST00000376351.3	37	c.2485G>A	CCDS31166.1	.	.	.	.	.	.	.	.	.	.	G	34	5.295145	0.95574	.	.	ENSG00000151025	ENST00000376351	T	0.61980	0.06	5.79	5.79	0.91817	.	0.643363	0.14775	N	0.299137	T	0.50667	0.1629	N	0.24115	0.695	0.36953	D	0.892968	B	0.33583	0.418	B	0.30495	0.116	T	0.52381	-0.8583	10	0.18710	T	0.47	.	20.0221	0.97508	0.0:0.0:1.0:0.0	.	829	Q5T848	GP158_HUMAN	K	829	ENSP00000365529:E829K	ENSP00000365529:E829K	E	+	1	0	GPR158	25927046	1.000000	0.71417	0.008000	0.14137	0.826000	0.46750	9.281000	0.95811	2.732000	0.93576	0.650000	0.86243	GAA		0.463	GPR158-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047248.2	XM_166110		26	149	0	0	0	1	0	26	149					A	25887040	G	A	25887040	3	1	247	1	0	0	0	0	1	0	0	0	6663	1175	41	3	2527	3	GPR158	10	25887040	Missense_Mutation	SNP	G	TCGA-HC-A6AQ-01A-11D-A30E-08		25887040	109647707	16	11621											
CPEB3	22849	broad.mit.edu	37	chr10	93999536	93999536	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggctggggctggcgggtgagCggcgctgctgcgggggctgc	1	6	24	10	4	0	1	0	1	0	0	0	1	0	1	0	8	4	5	0	8	0	0			TCGA-HC-A6AQ-01A-11D-A30E-08	TCGA-HC-A6AQ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	818ac005-a711-4c39-a06c-d103c59def26	91c131c3-f705-4867-8a15-2661ef72a6c1	g.chr10:93999536C>A	ENST00000265997.4	-	2	744	c.572G>T	c.(571-573)cGc>cTc	p.R191L	CPEB3_ENST00000412050.4_Missense_Mutation_p.R191L	NM_014912.4	NP_055727.3	Q8NE35	CPEB3_HUMAN	cytoplasmic polyadenylation element binding protein 3	191	Ala-rich.|Pro-rich.				3'-UTR-mediated mRNA destabilization (GO:0061158)|cellular response to amino acid stimulus (GO:0071230)|long-term memory (GO:0007616)|negative regulation of cytoplasmic translational elongation (GO:1900248)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of translation (GO:0017148)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of mRNA polyadenylation (GO:1900365)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|positive regulation of translation (GO:0045727)|regulation of dendritic spine development (GO:0060998)|regulation of synaptic plasticity (GO:0048167)|translation (GO:0006412)	apical dendrite (GO:0097440)|CCR4-NOT complex (GO:0030014)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|neuron projection (GO:0043005)|nucleus (GO:0005634)|synapse (GO:0045202)	mRNA 3'-UTR AU-rich region binding (GO:0035925)|mRNA 3'-UTR binding (GO:0003730)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|RNA stem-loop binding (GO:0035613)|translation factor activity, nucleic acid binding (GO:0008135)|translation repressor activity, nucleic acid binding (GO:0000900)			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(5)|skin(2)|upper_aerodigestive_tract(2)	18		Colorectal(252;0.0869)				GGCGGGTGAgcggcgctgctg	0.771																																						ENST00000412050.4																			0				breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(5)|skin(2)|upper_aerodigestive_tract(2)	18						c.(571-573)cGc>cTc		cytoplasmic polyadenylation element binding protein 3							2	3	2					10																	93999536		1480	3117	4597	SO:0001583	missense	22849						nucleotide binding|RNA binding	g.chr10:93999536C>A	AB023157	CCDS31246.1, CCDS53553.1	10q23.33	2013-02-12			ENSG00000107864	ENSG00000107864		"RNA binding motif (RRM) containing"	21746	protein-coding gene	gene with protein product		610606				10231032, 12672660	Standard	NM_014912		Approved	KIAA0940	uc001khw.2	Q8NE35	OTTHUMG00000018756	ENST00000265997.4:c.572G>T	10.37:g.93999536C>A	ENSP00000265997:p.Arg191Leu					CPEB3_ENST00000265997.4_Missense_Mutation_p.R191L	p.R191L	NM_001178137.1	NP_001171608.1	Q8NE35	CPEB3_HUMAN			2	660	-		Colorectal(252;0.0869)	191			Ala-rich.|Pro-rich.		Q5T389|Q9NQJ7|Q9Y2E9	Missense_Mutation	SNP	ENST00000265997.4	37	c.572G>T	CCDS31246.1	.	.	.	.	.	.	.	.	.	.	C	17.13	3.310126	0.60414	.	.	ENSG00000107864	ENST00000394210;ENST00000412050;ENST00000265997	T;T	0.56103	0.49;0.48	3.51	2.6	0.31112	.	0.055645	0.64402	D	0.000002	T	0.39436	0.1078	L	0.32530	0.975	0.47698	D	0.999495	P;P;P	0.41748	0.649;0.649;0.761	B;B;B	0.38458	0.141;0.184;0.274	T	0.31223	-0.9951	10	0.52906	T	0.07	-1.5612	11.1328	0.48358	0.0:0.9079:0.0:0.0921	.	191;191;191	Q8NE35;Q5QP71;Q8NE35-2	CPEB3_HUMAN;.;.	L	191	ENSP00000398310:R191L;ENSP00000265997:R191L	ENSP00000265997:R191L	R	-	2	0	CPEB3	93989516	1.000000	0.71417	0.945000	0.38365	0.618000	0.37518	5.429000	0.66495	0.815000	0.34398	0.462000	0.41574	CGC		0.771	CPEB3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049387.2	NM_014912		2	1	1	0	0.0784	1	0.0804103	2	1					A	93999536	C	A	93999536	3	1	247	1	0	0	0	0	1	0	0	0	3802	768	27	5	1587	5	CPEB3	10	93999536	Missense_Mutation	SNP	C	TCGA-HC-A6AQ-01A-11D-A30E-08	68112496	93999536	41535211	17	11622											
UTP20	27340	broad.mit.edu	37	chr12	101766716	101766716	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtgacaaattgagaccaaacTtggaattcatgctcgctcaa	14	10	8	9	1	2	2	2	2	0	1	3	4	2	3	1	1	2	2	1	1	4	3			TCGA-HC-A6AQ-01A-11D-A30E-08	TCGA-HC-A6AQ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	818ac005-a711-4c39-a06c-d103c59def26	91c131c3-f705-4867-8a15-2661ef72a6c1	g.chr12:101766716T>C	ENST00000261637.4	+	52	7027	c.6853T>C	c.(6853-6855)Ttg>Ctg	p.L2285L		NM_014503.2	NP_055318.2	O75691	UTP20_HUMAN	UTP20, small subunit (SSU) processome component, homolog (yeast)	2285					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000480)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000447)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000472)|negative regulation of cell proliferation (GO:0008285)|rRNA processing (GO:0006364)	90S preribosome (GO:0030686)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|preribosome, small subunit precursor (GO:0030688)|small-subunit processome (GO:0032040)	poly(A) RNA binding (GO:0044822)			NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						GAGACCAAACTTGGAATTCAT	0.408																																						ENST00000261637.4																			0				NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						c.(6853-6855)Ttg>Ctg		UTP20, small subunit (SSU) processome component, homolog (yeast)							114	106	109					12																	101766716		2203	4300	6503	SO:0001819	synonymous_variant	27340				endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation	90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome	protein binding	g.chr12:101766716T>C	AJ006778	CCDS9081.1	12q23	2006-02-11				ENSG00000120800			17897	protein-coding gene	gene with protein product	"down regulated in metastasis"	612822				9673349, 15590835, 12837249	Standard	NM_014503		Approved	DRIM	uc001tia.1	O75691	OTTHUMG00000170270	ENST00000261637.4:c.6853T>C	12.37:g.101766716T>C							p.L2285L	NM_014503.2	NP_055318.2	O75691	UTP20_HUMAN			52	7027	+			2285					Q9H3H4	Silent	SNP	ENST00000261637.4	37	c.6853T>C	CCDS9081.1																																																																																				0.408	UTP20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408242.1	NM_014503		4	33	0	0	0	1	0	4	33					C	101766716	T	C	101766716	2	2	247	1	0	0	0	0	0	0	0	1	17096	1606	56	4		4	UTP20	12	101766716	Silent	SNP	T	TCGA-HC-A6AQ-01A-11D-A30E-08		101766716	32085179	18	11623											
PCDH8	5100	broad.mit.edu	37	chr13	53419058	53419058	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcttacactcagcggtgcaCgcccacagtcctaatacgaa	12	8	7	14	3	2	0	1	0	1	0	3	1	3	0	2	1	4	1	2	1	4	3			TCGA-HC-A6AQ-01A-11D-A30E-08	TCGA-HC-A6AQ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	818ac005-a711-4c39-a06c-d103c59def26	91c131c3-f705-4867-8a15-2661ef72a6c1	g.chr13:53419058C>T	ENST00000377942.3	-	3	3053	c.2850G>A	c.(2848-2850)gcG>gcA	p.A950A	PCDH8_ENST00000338862.4_Silent_p.A853A	NM_002590.3	NP_002581.2	O95206	PCDH8_HUMAN	protocadherin 8	950					cell-cell signaling (GO:0007267)|homophilic cell adhesion (GO:0007156)|morphogenesis of embryonic epithelium (GO:0016331)|somitogenesis (GO:0001756)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cell projection (GO:0042995)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(23)|ovary(1)|skin(1)|urinary_tract(1)	36		Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.19e-08)		CAGCGGTGCACGCCCACAGTC	0.552																																					GBM(36;25 841 9273 49207)	ENST00000377942.3																			0				breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(23)|ovary(1)|skin(1)|urinary_tract(1)	36						c.(2848-2850)gcG>gcA		protocadherin 8							69	50	56					13																	53419058		2203	4300	6503	SO:0001819	synonymous_variant	5100				cell-cell signaling|homophilic cell adhesion	cell junction|dendrite|integral to plasma membrane|postsynaptic membrane|presynaptic membrane	calcium ion binding	g.chr13:53419058C>T	AF061573	CCDS9438.1, CCDS9439.1	13q21.1	2010-02-22			ENSG00000136099	ENSG00000136099		"Cadherins / Protocadherins : Non-clustered"	8660	protein-coding gene	gene with protein product		603580				9787079, 9315676	Standard	NM_002590		Approved	PAPC, ARCADLIN	uc001vhi.3	O95206	OTTHUMG00000016979	ENST00000377942.3:c.2850G>A	13.37:g.53419058C>T						PCDH8_ENST00000338862.4_Silent_p.A853A	p.A950A	NM_002590.3	NP_002581.2	O95206	PCDH8_HUMAN		GBM - Glioblastoma multiforme(99;2.19e-08)	3	3053	-		Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)	950					B4DMV7|Q5TAN1|Q5TAN2|Q8IYE9|Q96SF1	Silent	SNP	ENST00000377942.3	37	c.2850G>A	CCDS9438.1																																																																																				0.552	PCDH8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045108.2	NM_002590		6	36	0	0	0	1	0	6	36					T	53419058	C	T	53419058	2	4	247	1	0	0	0	0	0	0	0	1	11517	523	19	1		1	PCDH8	13	53419058	Silent	SNP	C	TCGA-HC-A6AQ-01A-11D-A30E-08		53419058	61750820	19	11624											
C14orf102	55051	broad.mit.edu	37	chr14	90755415	90755415	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tctggctccttaaggagattCttggctagttttttgcagtt	6	18	10	7	0	2	1	0	0	2	1	3	2	3	1	1	3	1	5	1	3	2	8			TCGA-HC-A6AQ-01A-11D-A30E-08	TCGA-HC-A6AQ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	818ac005-a711-4c39-a06c-d103c59def26	91c131c3-f705-4867-8a15-2661ef72a6c1	g.chr14:90755415C>T	ENST00000354366.3	-	11	2536	c.2304G>A	c.(2302-2304)aaG>aaA	p.K768K	NRDE2_ENST00000357904.3_Silent_p.K537K	NM_017970.3	NP_060440.2	Q9H7Z3	NRDE2_HUMAN	NRDE-2, necessary for RNA interference, domain containing	768																	TAAGGAGATTCTTGGCTAGTT	0.438																																						ENST00000354366.3																			0											c.(2302-2304)aaG>aaA		NRDE-2, necessary for RNA interference, domain containing							186	205	198					14																	90755415		2203	4300	6503	SO:0001819	synonymous_variant	55051							g.chr14:90755415C>T	AK000870	CCDS9890.1	14q32.11	2012-12-14	2012-09-25	2012-09-25	ENSG00000119720	ENSG00000119720			20186	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 102"	C14orf102			Standard	NM_017970		Approved	FLJ14051	uc001xyi.2	Q9H7Z3	OTTHUMG00000171020	ENST00000354366.3:c.2304G>A	14.37:g.90755415C>T						NRDE2_ENST00000357904.3_Silent_p.K537K	p.K768K	NM_017970.3	NP_060440.2					11	2536	-								B4DH71|Q4G0A7|Q9NWH6	Silent	SNP	ENST00000354366.3	37	c.2304G>A	CCDS9890.1																																																																																				0.438	NRDE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411264.1	NM_017970		8	143	0	0	0	1	0	8	143					T	90755415	C	T	90755415	2	4	247	1	0	0	0	0	0	0	0	1	1735	912	32	3		3	C14orf102	14	90755415	Silent	SNP	C	TCGA-HC-A6AQ-01A-11D-A30E-08		90755415	16594125	20	11625											
ZFP106	64397	broad.mit.edu	37	chr15	42742890	42742890	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gacatgaactacgcagtttgGatatgtaaggaccatggtta	13	11	11	6	1	0	1	0	1	0	0	0	4	0	3	1	3	2	4	1	3	5	5			TCGA-HC-A6AQ-01A-11D-A30E-08	TCGA-HC-A6AQ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	818ac005-a711-4c39-a06c-d103c59def26	91c131c3-f705-4867-8a15-2661ef72a6c1	g.chr15:42742890G>A	ENST00000263805.4	-	2	1837	c.1511C>T	c.(1510-1512)tCc>tTc	p.S504F	ZNF106_ENST00000565380.1_Intron|ZNF106_ENST00000565611.1_Intron	NM_001284306.1|NM_001284307.1|NM_022473.1	NP_001271235.1|NP_001271236.1|NP_071918.1	Q9H2Y7	ZN106_HUMAN	zinc finger protein 106	504					insulin receptor signaling pathway (GO:0008286)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)										ACGCAGTTTGGATATGTAAGG	0.358																																						ENST00000263805.4																			0											c.(1510-1512)tCc>tTc		zinc finger protein 106							204	201	202					15																	42742890		2203	4299	6502	SO:0001583	missense	64397							g.chr15:42742890G>A	AF205632	CCDS32208.1, CCDS61602.1, CCDS61603.1	15q15.1	2012-11-27	2012-11-27		ENSG00000103994	ENSG00000103994		"Zinc fingers, C2H2-type"	12886	protein-coding gene	gene with protein product	"SH3-domain binding protein 3"		"zinc finger protein 106 homolog (mouse)"	ZFP106			Standard	XM_005254591		Approved	ZNF474, SH3BP3	uc001zpw.3	Q9H2Y7	OTTHUMG00000173244	ENST00000263805.4:c.1511C>T	15.37:g.42742890G>A	ENSP00000263805:p.Ser504Phe					ZNF106_ENST00000565611.1_Intron|ZNF106_ENST00000565380.1_Intron	p.S504F	NM_022473.1	NP_071918.1					2	1837	-								B4DZ40|E9PE29|Q6NSD9|Q6PEK1|Q86T43|Q86T45|Q86T50|Q86T58|Q86TA9|Q96M37|Q9H7B8	Missense_Mutation	SNP	ENST00000263805.4	37	c.1511C>T	CCDS32208.1	.	.	.	.	.	.	.	.	.	.	G	10.08	1.253545	0.22965	.	.	ENSG00000103994	ENST00000263805	T	0.58358	0.34	4.99	4.99	0.66335	.	0.550821	0.20687	N	0.087522	T	0.40886	0.1135	L	0.38175	1.15	0.80722	D	1	B;B	0.25563	0.129;0.007	B;B	0.25291	0.059;0.007	T	0.16070	-1.0415	10	0.17369	T	0.5	-0.5067	12.1932	0.54282	0.0784:0.0:0.9216:0.0	.	287;504	B4DGC7;Q9H2Y7	.;ZF106_HUMAN	F	504	ENSP00000263805:S504F	ENSP00000263805:S504F	S	-	2	0	ZFP106	40530182	0.999000	0.42202	0.969000	0.41365	0.243000	0.25628	2.858000	0.48356	2.751000	0.94390	0.543000	0.68304	TCC		0.358	ZNF106-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422587.1	NM_022473		17	84	0	0	0	1	0	17	84					A	42742890	G	A	42742890	3	1	247	1	0	0	0	0	1	0	0	0	17634	1174	41	3	4212	3	ZFP106	15	42742890	Missense_Mutation	SNP	G	TCGA-HC-A6AQ-01A-11D-A30E-08		42742890	59788502	21	11626											
FHOD1	29109	broad.mit.edu	37	chr16	67264568	67264568	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gcgggcacactggtccaggaAgtgggtgaggcgggcacgca	8	4	19	10	3	0	1	0	1	0	0	1	2	1	2	1	6	0	3	1	6	1	0			TCGA-HC-A6AQ-01A-11D-A30E-08	TCGA-HC-A6AQ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	818ac005-a711-4c39-a06c-d103c59def26	91c131c3-f705-4867-8a15-2661ef72a6c1	g.chr16:67264568A>G	ENST00000258201.4	-	18	3041	c.2794T>C	c.(2794-2796)Ttc>Ctc	p.F932L		NM_013241.2	NP_037373.2	Q9Y613	FHOD1_HUMAN	formin homology 2 domain containing 1	932	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.				positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|membrane (GO:0016020)|nucleus (GO:0005634)	identical protein binding (GO:0042802)			breast(4)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	34		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.000691)|Epithelial(162;0.00462)|all cancers(182;0.0434)		TGGTCCAGGAAGTGGGTGAGG	0.682																																						ENST00000258201.4																			0				breast(4)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	34						c.(2794-2796)Ttc>Ctc		formin homology 2 domain containing 1							117	121	119					16																	67264568		2198	4300	6498	SO:0001583	missense	29109				actin cytoskeleton organization	cytoplasm|cytoskeleton|nucleus	actin binding	g.chr16:67264568A>G	AF113615	CCDS10834.1	16q22	2008-02-22			ENSG00000135723	ENSG00000135723			17905	protein-coding gene	gene with protein product		606881				10352228, 16112087	Standard	NM_013241		Approved	FHOS	uc002esl.3	Q9Y613	OTTHUMG00000137521	ENST00000258201.4:c.2794T>C	16.37:g.67264568A>G	ENSP00000258201:p.Phe932Leu					FHOD1_ENST00000567687.1_Missense_Mutation_p.F511L	p.F932L	NM_013241.2	NP_037373.2	Q9Y613	FHOD1_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.000691)|Epithelial(162;0.00462)|all cancers(182;0.0434)	18	3041	-		Ovarian(137;0.0563)	932			FH2.		Q59F76|Q6Y1F2|Q76MS8|Q8N521	Missense_Mutation	SNP	ENST00000258201.4	37	c.2794T>C	CCDS10834.1	.	.	.	.	.	.	.	.	.	.	A	25.3	4.627790	0.87560	.	.	ENSG00000135723	ENST00000258201	T	0.30182	1.54	5.61	5.61	0.85477	Actin-binding FH2/DRF autoregulatory (1);Actin-binding FH2 (3);	0.000000	0.85682	D	0.000000	T	0.44435	0.1293	M	0.70595	2.14	0.80722	D	1	B	0.33379	0.41	B	0.43386	0.418	T	0.43572	-0.9383	10	0.59425	D	0.04	.	14.6299	0.68647	1.0:0.0:0.0:0.0	.	932	Q9Y613	FHOD1_HUMAN	L	932	ENSP00000258201:F932L	ENSP00000258201:F932L	F	-	1	0	FHOD1	65822069	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.977000	0.93446	2.136000	0.66102	0.459000	0.35465	TTC		0.682	FHOD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268844.2			19	109	0	0	0	1	0	19	109					G	67264568	A	G	67264568	3	3	247	1	0	0	0	0	1	0	0	0	5882	72	3	4	720	4	FHOD1	16	67264568	Missense_Mutation	SNP	A	TCGA-HC-A6AQ-01A-11D-A30E-08		67264568	23090185	22	11627											
MAP2K4	6416	broad.mit.edu	37	chr17	12032509	12032509	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagtggaatagtgtatttgaTcaactaacacaagtcgtgaa	16	11	9	5	1	1	2	1	2	0	0	2	3	1	3	0	1	2	1	0	1	8	4			TCGA-HC-A6AQ-01A-11D-A30E-08	TCGA-HC-A6AQ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	818ac005-a711-4c39-a06c-d103c59def26	91c131c3-f705-4867-8a15-2661ef72a6c1	g.chr17:12032509T>C	ENST00000353533.5	+	9	1008	c.945T>C	c.(943-945)gaT>gaC	p.D315D	MAP2K4_ENST00000415385.3_Silent_p.D326D	NM_003010.2	NP_003001.1	P45985	MP2K4_HUMAN	mitogen-activated protein kinase kinase 4	315	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|cellular response to mechanical stimulus (GO:0071260)|cellular response to sorbitol (GO:0072709)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|positive regulation of DNA replication (GO:0045740)|positive regulation of neuron apoptotic process (GO:0043525)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|dendrite cytoplasm (GO:0032839)|nucleus (GO:0005634)|perikaryon (GO:0043204)	ATP binding (GO:0005524)|JUN kinase kinase activity (GO:0008545)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)	p.0?(10)|p.?(1)		NS(1)|biliary_tract(2)|breast(22)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(26)|lung(15)|ovary(8)|pancreas(11)|skin(3)|stomach(2)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	100		all_cancers(5;0.0413)|Breast(5;0.000625)|all_epithelial(5;0.00978)|all_lung(20;0.0449)|Lung NSC(33;0.163)		Epithelial(2;4.12e-09)|all cancers(2;6.86e-07)|BRCA - Breast invasive adenocarcinoma(2;8.74e-07)|Colorectal(4;5.32e-05)|COAD - Colon adenocarcinoma(4;0.0039)|READ - Rectum adenocarcinoma(10;0.0681)		GTGTATTTGATCAACTAACAC	0.423			"D, Mis, N"		"pancreatic, breast, colorectal"																																	ENST00000415385.3				Rec	yes		17	17p11.2	6416	"D, Mis, N"	mitogen-activated protein kinase kinase 4			E			"pancreatic, breast, colorectal"		11	Whole gene deletion(10)|Unknown(1)	p.0?(10)|p.?(1)	ovary(4)|breast(4)|biliary_tract(1)|lung(1)|pancreas(1)	NS(1)|biliary_tract(2)|breast(22)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(26)|lung(15)|ovary(8)|pancreas(11)|skin(3)|stomach(2)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						c.(976-978)gaT>gaC		mitogen-activated protein kinase kinase 4							88	80	83					17																	12032509		2203	4300	6503	SO:0001819	synonymous_variant	6416				cellular response to mechanical stimulus|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol	ATP binding|JUN kinase kinase activity|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr17:12032509T>C	L36870	CCDS11162.1, CCDS62095.1	17p12	2012-03-23			ENSG00000065559	ENSG00000065559	2.7.12.2	"Mitogen-activated protein kinase cascade / Kinase kinases"	6844	protein-coding gene	gene with protein product		601335		SERK1		7716521	Standard	NM_003010		Approved	MEK4, JNKK1, PRKMK4, MKK4	uc002gnj.3	P45985		ENST00000353533.5:c.945T>C	17.37:g.12032509T>C						MAP2K4_ENST00000353533.5_Silent_p.D315D	p.D326D			P45985	MP2K4_HUMAN		Epithelial(2;4.12e-09)|all cancers(2;6.86e-07)|BRCA - Breast invasive adenocarcinoma(2;8.74e-07)|Colorectal(4;5.32e-05)|COAD - Colon adenocarcinoma(4;0.0039)|READ - Rectum adenocarcinoma(10;0.0681)	10	1031	+		all_cancers(5;0.0413)|Breast(5;0.000625)|all_epithelial(5;0.00978)|all_lung(20;0.0449)|Lung NSC(33;0.163)	315			Protein kinase.		B2R7N7|B3KYB2|D3DTS5|Q5U0B8|Q6FHX4|Q6P9H2|Q6PIE6	Silent	SNP	ENST00000353533.5	37	c.978T>C	CCDS11162.1																																																																																				0.423	MAP2K4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000441226.1			3	29	0	0	0	1	0	3	29					C	12032509	T	C	12032509	2	2	247	1	0	0	0	0	0	0	0	1	9239	1432	50	4		4	MAP2K4	17	12032509	Silent	SNP	T	TCGA-HC-A6AQ-01A-11D-A30E-08		12032509	69162701	23	11628											
LAMA3	3909	broad.mit.edu	37	chr18	21519263	21519263	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ttgctcaccacttcccaagaCccaggccaatcatggagccc	10	7	7	17	0	2	1	2	0	0	1	3	2	3	2	5	2	2	1	5	2	2	2			TCGA-HC-A6AQ-01A-11D-A30E-08	TCGA-HC-A6AQ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	818ac005-a711-4c39-a06c-d103c59def26	91c131c3-f705-4867-8a15-2661ef72a6c1	g.chr18:21519263C>T	ENST00000313654.9	+	68	9180	c.8939C>T	c.(8938-8940)aCc>aTc	p.T2980I	LAMA3_ENST00000587184.1_Missense_Mutation_p.T1315I|LAMA3_ENST00000399516.3_Missense_Mutation_p.T2924I|LAMA3_ENST00000588770.1_3'UTR|LAMA3_ENST00000269217.6_Missense_Mutation_p.T1371I	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	2980					cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-5 complex (GO:0005610)	structural molecule activity (GO:0005198)			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)					CTTCCCAAGACCCAGGCCAAT	0.537																																						ENST00000313654.9																			0				NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128						c.(8938-8940)aCc>aTc		laminin, alpha 3	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						161	158	159					18																	21519263		2203	4300	6503	SO:0001583	missense	3909				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	g.chr18:21519263C>T	L34155	CCDS11880.1, CCDS42419.1, CCDS45838.1, CCDS59307.1	18q11.2	2013-03-01	2002-08-29		ENSG00000053747	ENSG00000053747		"Laminins"	6483	protein-coding gene	gene with protein product		600805	"laminin, alpha 3 (nicein (150kD), kalinin (165kD), BM600 (150kD), epilegrin)"	LAMNA		8077230	Standard	NM_000227		Approved	nicein-150kDa, kalinin-165kDa, BM600-150kDa, epiligrin	uc002kuq.3	Q16787	OTTHUMG00000131874	ENST00000313654.9:c.8939C>T	18.37:g.21519263C>T	ENSP00000324532:p.Thr2980Ile					LAMA3_ENST00000269217.6_Missense_Mutation_p.T1371I|LAMA3_ENST00000399516.3_Missense_Mutation_p.T2924I|LAMA3_ENST00000587184.1_Missense_Mutation_p.T1315I|LAMA3_ENST00000588770.1_3'UTR	p.T2980I	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN			68	9180	+	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)		2980					B0YJ33|Q13679|Q13680|Q6VU67|Q6VU68|Q6VU69|Q76E14|Q96TG0	Missense_Mutation	SNP	ENST00000313654.9	37	c.8939C>T	CCDS42419.1	.	.	.	.	.	.	.	.	.	.	C	7.250	0.603129	0.13939	.	.	ENSG00000053747	ENST00000313654;ENST00000399516;ENST00000269217	T;T;T	0.18174	2.24;2.23;3.8	5.31	1.58	0.23477	Concanavalin A-like lectin/glucanase, subgroup (1);	.	.	.	.	T	0.09291	0.0229	N	0.19112	0.55	0.09310	N	1	B;B;B;B	0.21309	0.006;0.006;0.003;0.054	B;B;B;B	0.12837	0.006;0.006;0.002;0.008	T	0.42103	-0.9471	9	0.14656	T	0.56	.	7.4829	0.27415	0.0:0.648:0.0:0.352	.	1315;1371;2924;2980	Q6VU69;B0YJ33;Q6VU67;Q16787	.;.;.;LAMA3_HUMAN	I	2980;2924;1371	ENSP00000324532:T2980I;ENSP00000382432:T2924I;ENSP00000269217:T1371I	ENSP00000269217:T1371I	T	+	2	0	LAMA3	19773261	0.001000	0.12720	0.000000	0.03702	0.093000	0.18481	0.403000	0.20982	0.005000	0.14708	-0.254000	0.11334	ACC		0.537	LAMA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254824.3	NM_000227, NM_198129		17	110	0	0	0	1	0	17	110					T	21519263	C	T	21519263	3	4	247	1	0	0	0	0	1	0	0	0	8607	507	18	3	9384	3	LAMA3	18	21519263	Missense_Mutation	SNP	C	TCGA-HC-A6AQ-01A-11D-A30E-08		21519263	56557985	24	11629											
MUC16	94025	broad.mit.edu	37	chr19	9087907	9087907	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagctgtcatctcaggtgaaGacccagaagagtaagccatt	13	8	11	9	0	2	4	2	1	1	3	3	5	2	4	2	1	2	2	2	1	3	2			TCGA-HC-A6AQ-01A-11D-A30E-08	TCGA-HC-A6AQ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	818ac005-a711-4c39-a06c-d103c59def26	91c131c3-f705-4867-8a15-2661ef72a6c1	g.chr19:9087907G>T	ENST00000397910.4	-	1	4111	c.3908C>A	c.(3907-3909)tCt>tAt	p.S1303Y		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	1303	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CTCAGGTGAAGACCCAGAAGA	0.493																																						ENST00000397910.4																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(3907-3909)tCt>tAt		mucin 16, cell surface associated							143	139	140					19																	9087907		2038	4196	6234	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9087907G>T	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.3908C>A	19.37:g.9087907G>T	ENSP00000381008:p.Ser1303Tyr						p.S1303Y	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			1	4111	-			1303			Thr-rich.		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.3908C>A	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	g	2.570	-0.299818	0.05532	.	.	ENSG00000181143	ENST00000397910	T	0.02737	4.18	1.48	-2.96	0.05547	.	.	.	.	.	T	0.01189	0.0039	N	0.08118	0	.	.	.	P	0.46020	0.871	B	0.34346	0.18	T	0.44667	-0.9313	8	0.87932	D	0	.	2.7489	0.05274	0.3846:0.2527:0.3626:0.0	.	1303	B5ME49	.	Y	1303	ENSP00000381008:S1303Y	ENSP00000381008:S1303Y	S	-	2	0	MUC16	8948907	0.000000	0.05858	0.000000	0.03702	0.150000	0.21749	-1.304000	0.02741	-0.792000	0.04480	0.305000	0.20034	TCT		0.493	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		5	82	1	0	0.014758	1	0.0155347	5	82					T	9087907	G	T	9087907	3	4	247	1	0	0	0	0	1	0	0	0	9973	942	33	5	39951	5	MUC16	19	9087907	Missense_Mutation	SNP	G	TCGA-HC-A6AQ-01A-11D-A30E-08		9087907	50041076	25	11630											
TMEM59L	25789	broad.mit.edu	37	chr19	18729079	18729079	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tgacttcctcagttgcatgtCccggtgggtggcaggacctt	5	12	13	11	1	1	1	1	1	0	0	3	2	3	2	3	4	1	3	3	4	0	3			TCGA-HC-A6AQ-01A-11D-A30E-08	TCGA-HC-A6AQ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	818ac005-a711-4c39-a06c-d103c59def26	91c131c3-f705-4867-8a15-2661ef72a6c1	g.chr19:18729079C>T	ENST00000600490.1	+	7	964	c.779C>T	c.(778-780)tCc>tTc	p.S260F	TMEM59L_ENST00000262817.3_Missense_Mutation_p.S260F			Q9UK28	TM59L_HUMAN	transmembrane protein 59-like	260						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|skin(2)	13						AGTTGCATGTCCCGGTGGGTG	0.647																																						ENST00000600490.1																			0				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|skin(2)	13						c.(778-780)tCc>tTc		transmembrane protein 59-like							47	32	37					19																	18729079		2203	4300	6503	SO:0001583	missense	25789					Golgi membrane|integral to membrane|membrane fraction		g.chr19:18729079C>T	AF186264	CCDS12383.1	19p12	2008-02-05	2007-03-14	2007-03-14		ENSG00000105696			13237	protein-coding gene	gene with protein product			"chromosome 19 open reading frame 4"	C19orf4		10527841	Standard	NM_012109		Approved	BSMAP	uc002njy.4	Q9UK28		ENST00000600490.1:c.779C>T	19.37:g.18729079C>T	ENSP00000470879:p.Ser260Phe					TMEM59L_ENST00000262817.3_Missense_Mutation_p.S260F	p.S260F			Q9UK28	TM59L_HUMAN			7	964	+			260						Missense_Mutation	SNP	ENST00000600490.1	37	c.779C>T	CCDS12383.1	.	.	.	.	.	.	.	.	.	.	C	19.23	3.787524	0.70337	.	.	ENSG00000105696	ENST00000262817	T	0.66099	-0.19	4.21	4.21	0.49690	.	0.278803	0.36665	N	0.002469	T	0.76681	0.4021	M	0.71206	2.165	0.58432	D	0.999998	D	0.76494	0.999	D	0.72625	0.978	T	0.80271	-0.1452	10	0.87932	D	0	-24.4871	14.0894	0.64980	0.0:1.0:0.0:0.0	.	260	Q9UK28	TM59L_HUMAN	F	260	ENSP00000262817:S260F	ENSP00000262817:S260F	S	+	2	0	TMEM59L	18590079	1.000000	0.71417	1.000000	0.80357	0.853000	0.48598	3.970000	0.56824	2.046000	0.60703	0.561000	0.74099	TCC		0.647	TMEM59L-001	KNOWN	overlapping_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465143.2			3	13	0	0	0	1	0	3	13					T	18729079	C	T	18729079	3	4	247	1	0	0	0	0	1	0	0	0	16183	855	30	3	801	3	TMEM59L	19	18729079	Missense_Mutation	SNP	C	TCGA-HC-A6AQ-01A-11D-A30E-08	9641172	18729079	40399904	26	11631											
CGB7	94027	broad.mit.edu	37	chr19	49558205	49558205	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gatggggcggcaccgtggccGaagcatctccctggatgccc	6	6	15	14	3	1	0	0	0	1	0	2	3	1	1	4	5	2	2	4	5	1	0			TCGA-HC-A6AQ-01A-11D-A30E-08	TCGA-HC-A6AQ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	818ac005-a711-4c39-a06c-d103c59def26	91c131c3-f705-4867-8a15-2661ef72a6c1	g.chr19:49558205G>A	ENST00000597853.1	-	4	2947	c.76C>T	c.(76-78)Cgg>Tgg	p.R26W	CGB7_ENST00000356213.4_Missense_Mutation_p.R24W|CGB7_ENST00000596965.1_Missense_Mutation_p.R26W|CGB7_ENST00000377280.3_Missense_Mutation_p.R26W|CGB7_ENST00000593309.1_5'Flank			P01233	CGHB_HUMAN	chorionic gonadotropin, beta polypeptide 7	26					apoptotic process (GO:0006915)|cell-cell signaling (GO:0007267)|cellular protein metabolic process (GO:0044267)|female gamete generation (GO:0007292)|peptide hormone processing (GO:0016486)|signal transduction (GO:0007165)	extracellular region (GO:0005576)	hormone activity (GO:0005179)			lung(3)|urinary_tract(2)	5		all_epithelial(76;9.62e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		all cancers(93;0.000371)|OV - Ovarian serous cystadenocarcinoma(262;0.000503)|GBM - Glioblastoma multiforme(486;0.00518)|Epithelial(262;0.0427)		CACCGTGGCCGAAGCATCTCC	0.652																																						ENST00000597853.1																			0				lung(3)|urinary_tract(2)	5						c.(76-78)Cgg>Tgg		chorionic gonadotropin, beta polypeptide 7							88	68	75					19																	49558205		1502	2678	4180	SO:0001583	missense	94027							g.chr19:49558205G>A	K00092	CCDS33071.1	19q13.32	2008-02-05				ENSG00000196337			16451	protein-coding gene	gene with protein product		608826				6194155	Standard	NM_033142		Approved	CG-beta-a		P01233		ENST00000597853.1:c.76C>T	19.37:g.49558205G>A	ENSP00000470813:p.Arg26Trp					CGB7_ENST00000377280.3_Missense_Mutation_p.R26W|CGB7_ENST00000596965.1_Missense_Mutation_p.R26W|CGB7_ENST00000356213.4_Missense_Mutation_p.R24W	p.R26W						all cancers(93;0.000371)|OV - Ovarian serous cystadenocarcinoma(262;0.000503)|GBM - Glioblastoma multiforme(486;0.00518)|Epithelial(262;0.0427)	4	2947	-		all_epithelial(76;9.62e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)						A1A5E0|B9ZVP5|Q13991|Q14000|Q3KPI3|Q3SY41|Q8WTT5|Q8WXL1|Q8WXL2|Q8WXL3|Q8WXL4	Missense_Mutation	SNP	ENST00000597853.1	37	c.76C>T	CCDS33071.1	.	.	.	.	.	.	.	.	.	.	G	12.57	1.978055	0.34942	.	.	ENSG00000196337	ENST00000377280;ENST00000356213	T;T	0.58940	0.3;0.3	2.0	2.0	0.26442	.	0.282991	0.29431	N	0.012168	T	0.71281	0.3321	.	.	.	0.39410	D	0.966732	D;D	0.89917	1.0;1.0	D;D	0.80764	0.994;0.984	T	0.75105	-0.3435	9	0.66056	D	0.02	-19.7211	10.0962	0.42478	0.0:0.0:1.0:0.0	.	24;56	F5H162;A6NKQ9	.;CGB1_HUMAN	W	26;24	ENSP00000366493:R26W;ENSP00000348545:R24W	ENSP00000348545:R24W	R	-	1	2	CGB7	54250017	0.925000	0.31364	0.751000	0.31187	0.025000	0.11179	0.924000	0.28777	1.442000	0.47568	0.194000	0.17425	CGG		0.652	CGB7-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466254.1	NM_033142		19	57	0	0	0	1	0	19	57					A	49558205	G	A	49558205	3	1	247	1	0	0	0	0	1	0	0	0	3300	1057	37	2	429	2	CGB7	19	49558205	Missense_Mutation	SNP	G	TCGA-HC-A6AQ-01A-11D-A30E-08	30829126	49558205	9570778	27	11632											
CST7	8530	broad.mit.edu	37	chr20	24937950	24937950	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcccaggaccttaactcacGtgtgaagccaggatttccta	10	11	8	12	1	1	1	1	1	0	0	3	3	3	3	4	2	2	0	4	2	3	4			TCGA-HC-A6AQ-01A-11D-A30E-08	TCGA-HC-A6AQ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	818ac005-a711-4c39-a06c-d103c59def26	91c131c3-f705-4867-8a15-2661ef72a6c1	g.chr20:24937950G>C	ENST00000480798.1	+	2	374	c.98G>C	c.(97-99)cGt>cCt	p.R33P	CST7_ENST00000376835.2_Missense_Mutation_p.R55P	NM_003650.3	NP_003641.3	O76096	CYTF_HUMAN	cystatin F (leukocystatin)	33					immune response (GO:0006955)|negative regulation of endopeptidase activity (GO:0010951)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)	cysteine-type endopeptidase inhibitor activity (GO:0004869)|endopeptidase inhibitor activity (GO:0004866)			large_intestine(1)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	5						CTTAACTCACGTGTGAAGCCA	0.478																																						ENST00000480798.1																			0				large_intestine(1)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	5						c.(97-99)cGt>cCt		cystatin F (leukocystatin)							263	257	259					20																	24937950		2203	4300	6503	SO:0001583	missense	8530				immune response	cytoplasm|extracellular region	cysteine-type endopeptidase inhibitor activity	g.chr20:24937950G>C	AF036342	CCDS13165.1, CCDS13165.2	20p11.21	2008-04-15			ENSG00000077984	ENSG00000077984			2479	protein-coding gene	gene with protein product		603253				9733783, 9632704	Standard	NM_003650		Approved		uc002wtx.2	O76096	OTTHUMG00000032108	ENST00000480798.1:c.98G>C	20.37:g.24937950G>C	ENSP00000420384:p.Arg33Pro					CST7_ENST00000376835.2_Missense_Mutation_p.R55P	p.R33P	NM_003650.3	NP_003641.3	O76096	CYTF_HUMAN			2	374	+			33					Q6FH95|Q7Z4J8|Q9UED4	Missense_Mutation	SNP	ENST00000480798.1	37	c.98G>C	CCDS13165.2	.	.	.	.	.	.	.	.	.	.	g	2.983	-0.209893	0.06140	.	.	ENSG00000077984	ENST00000480798;ENST00000376835	T;T	0.09445	3.01;2.98	3.98	0.521	0.17046	.	1.579980	0.03150	N	0.167863	T	0.05731	0.0150	N	0.08118	0	0.09310	N	1	B	0.33777	0.425	B	0.24155	0.051	T	0.34850	-0.9812	10	0.32370	T	0.25	-33.6907	8.2082	0.31467	0.2668:0.0:0.7332:0.0	.	33	O76096	CYTF_HUMAN	P	33;55	ENSP00000420384:R33P;ENSP00000366031:R55P	ENSP00000366031:R55P	R	+	2	0	CST7	24885950	0.000000	0.05858	0.000000	0.03702	0.027000	0.11550	0.638000	0.24674	0.018000	0.15052	0.506000	0.49869	CGT		0.478	CST7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078381.2	NM_003650		8	137	0	0	0	1	0	8	137					C	24937950	G	C	24937950	3	2	247	1	0	0	0	0	1	0	0	0	3977	1145	40	5	104	5	CST7	20	24937950	Missense_Mutation	SNP	G	TCGA-HC-A6AQ-01A-11D-A30E-08		24937950	38087570	28	11633											
FITM2	128486	broad.mit.edu	37	chr20	42935657	42935657	+	Frame_Shift_Del	DEL	C	C	-																															ctgctgcttgctctggtgttCctttctgaccccctccaggg																										TCGA-HC-A6AQ-01A-11D-A30E-08	TCGA-HC-A6AQ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	818ac005-a711-4c39-a06c-d103c59def26	91c131c3-f705-4867-8a15-2661ef72a6c1	g.chr20:42935657delC	ENST00000396825.3	-	2	417	c.397delG	c.(397-399)gaafs	p.E133fs		NM_001080472.1	NP_001073941.1	Q8N6M3	FITM2_HUMAN	fat storage-inducing transmembrane protein 2	133					cellular triglyceride homeostasis (GO:0035356)|cytoskeleton organization (GO:0007010)|lipid particle organization (GO:0034389)|positive regulation of sequestering of triglyceride (GO:0010890)|regulation of cell morphogenesis (GO:0022604)|regulation of triglyceride biosynthetic process (GO:0010866)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|mitochondrion (GO:0005739)				endometrium(2)|lung(2)|skin(2)	6						CTCTGGTGTTCCTTTCTGACC	0.582																																						ENST00000396825.3																			0				endometrium(2)|lung(2)|skin(2)	6						c.(397-399)aafs		fat storage-inducing transmembrane protein 2							117	85	96					20																	42935657		2203	4300	6503	SO:0001589	frameshift_variant	128486				cellular triglyceride homeostasis|lipid particle organization|positive regulation of sequestering of triglyceride|regulation of triglyceride biosynthetic process	integral to endoplasmic reticulum membrane		g.chr20:42935657delC	BC029662	CCDS33473.1	20q13.12	2009-04-29	2009-04-29	2009-04-29	ENSG00000197296	ENSG00000197296			16135	protein-coding gene	gene with protein product	"fat inducing transcript 2"	612029	"chromosome 20 open reading frame 142"	C20orf142		18160536	Standard	NM_001080472		Approved	dJ881L22.2, FIT2	uc002xlr.1	Q8N6M3	OTTHUMG00000032522	ENST00000396825.3:c.397delG	20.37:g.42935657delC	ENSP00000380037:p.Glu133fs						p.E133fs	NM_001080472.1	NP_001073941.1	Q8N6M3	FITM2_HUMAN			2	417	-			133					A1L492|B9EGQ4|Q5TE59|Q9H3Y1	Frame_Shift_Del	DEL	ENST00000396825.3	37	c.397delG	CCDS33473.1																																																																																				0.582	FITM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079342.2	XM_371399		8	62						8	62	---	---	---	---	-	42935657	C	-	42935657	7	5	247	1	0	1	0	1	0	0	0	0	5899	864	30	0	395	0	FITM2	20	42935657	Frame_Shift_Del	DEL	C	TCGA-HC-A6AQ-01A-11D-A30E-08	17997707	42935657	20089863	29	11634											
PCIF1	63935	broad.mit.edu	37	chr20	44576000	44576000	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ctcacccgcatggagcagagCcgcttcaaacgccaccagtt	10	6	9	16	3	2	1	2	0	0	1	2	2	2	2	4	1	3	4	4	1	1	2			TCGA-HC-A6AQ-01A-11D-A30E-08	TCGA-HC-A6AQ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	818ac005-a711-4c39-a06c-d103c59def26	91c131c3-f705-4867-8a15-2661ef72a6c1	g.chr20:44576000C>T	ENST00000372409.3	+	16	2170	c.1806C>T	c.(1804-1806)agC>agT	p.S602S	PCIF1_ENST00000479348.1_3'UTR	NM_022104.3	NP_071387.1	Q9H4Z3	PCIF1_HUMAN	PDX1 C-terminal inhibiting factor 1	602					negative regulation of phosphatase activity (GO:0010923)	intercellular bridge (GO:0045171)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	20						TGGAGCAGAGCCGCTTCAAAC	0.617																																						ENST00000372409.3																			0				central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	20						c.(1804-1806)agC>agT		PDX1 C-terminal inhibiting factor 1							57	52	54					20																	44576000		2203	4300	6503	SO:0001819	synonymous_variant	63935					nucleus		g.chr20:44576000C>T	AB050014	CCDS13388.1	20q13.12	2014-06-13	2008-04-29	2008-04-29	ENSG00000100982	ENSG00000100982			16200	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 121"		"chromosome 20 open reading frame 67"	C20orf67		12565871, 15121856	Standard	NM_022104		Approved	bA465L10.1, PPP1R121	uc002xqs.3	Q9H4Z3	OTTHUMG00000032635	ENST00000372409.3:c.1806C>T	20.37:g.44576000C>T						PCIF1_ENST00000479348.1_3'UTR	p.S602S	NM_022104.3	NP_071387.1	Q9H4Z3	PCIF1_HUMAN			16	2170	+			602					E1P5P1|Q54AB9|Q9NT85	Silent	SNP	ENST00000372409.3	37	c.1806C>T	CCDS13388.1																																																																																				0.617	PCIF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079550.1	NM_022104		3	30	0	0	0	1	0	3	30					T	44576000	C	T	44576000	2	4	247	1	0	0	0	0	0	0	0	1	11580	738	26	3		3	PCIF1	20	44576000	Silent	SNP	C	TCGA-HC-A6AQ-01A-11D-A30E-08	1640343	44576000	18449520	30	11635											
MCHR1	2847	broad.mit.edu	37	chr22	41075565	41075565	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ctgcggggcttgcgctccggGacaaggtggcaggcgctgga	5	6	19	11	4	0	0	0	0	0	0	1	2	1	2	1	7	2	4	1	7	1	1			TCGA-HC-A6AQ-01A-11D-A30E-08	TCGA-HC-A6AQ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	818ac005-a711-4c39-a06c-d103c59def26	91c131c3-f705-4867-8a15-2661ef72a6c1	g.chr22:41075565G>A	ENST00000249016.4	+	1	812	c.116G>A	c.(115-117)gGa>gAa	p.G39E	MCHR1_ENST00000381433.2_Missense_Mutation_p.G39E|MCHR1_ENST00000498400.1_Intron	NM_005297.3	NP_005288.3	Q99705	MCHR1_HUMAN	melanin-concentrating hormone receptor 1	39					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|feeding behavior (GO:0007631)|G-protein coupled receptor signaling pathway (GO:0007186)|generation of precursor metabolites and energy (GO:0006091)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cytosolic calcium ion concentration (GO:0007204)	integral component of plasma membrane (GO:0005887)|nonmotile primary cilium (GO:0031513)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|hormone binding (GO:0042562)|melanin-concentrating hormone receptor activity (GO:0030273)|neuropeptide receptor activity (GO:0008188)			endometrium(5)|large_intestine(7)|lung(6)|pancreas(1)|urinary_tract(1)	20						TGCGCTCCGGGACAAGGTGGC	0.692																																						ENST00000249016.4																			0				endometrium(5)|large_intestine(7)|lung(6)|pancreas(1)|urinary_tract(1)	20						c.(115-117)gGa>gAa		melanin-concentrating hormone receptor 1							24	29	28					22																	41075565		2202	4300	6502	SO:0001583	missense	0				elevation of cytosolic calcium ion concentration|feeding behavior|generation of precursor metabolites and energy|inhibition of adenylate cyclase activity by G-protein signaling pathway	integral to plasma membrane|nonmotile primary cilium	neuropeptide receptor activity	g.chr22:41075565G>A		CCDS14004.1	22q13.3	2014-06-05	2006-02-15	2006-02-15	ENSG00000128285	ENSG00000128285		"GPCR / Class A : MCH receptors"	4479	protein-coding gene	gene with protein product		601751	"G protein-coupled receptor 24"	GPR24			Standard	XM_005261581		Approved	SLC1, MCH1R	uc003ayz.3	Q99705	OTTHUMG00000150256	ENST00000249016.4:c.116G>A	22.37:g.41075565G>A	ENSP00000249016:p.Gly39Glu					MCHR1_ENST00000381433.2_Missense_Mutation_p.G39E|MCHR1_ENST00000498400.1_Intron	p.G39E	NM_005297.3	NP_005288.3	Q99705	MCHR1_HUMAN			1	812	+			39					B2RBX6|Q5R3J1|Q96S47|Q9BV08	Missense_Mutation	SNP	ENST00000249016.4	37	c.116G>A	CCDS14004.1	.	.	.	.	.	.	.	.	.	.	G	13.21	2.169817	0.38315	.	.	ENSG00000128285	ENST00000249016;ENST00000381433	T;T	0.72942	-0.2;-0.7	4.54	4.54	0.55810	.	1.082930	0.07259	N	0.867218	T	0.72526	0.3471	N	0.08118	0	0.31784	N	0.630578	D	0.89917	1.0	D	0.87578	0.998	T	0.71178	-0.4669	10	0.72032	D	0.01	.	13.1496	0.59482	0.0:0.0:1.0:0.0	.	39	Q99705	MCHR1_HUMAN	E	39	ENSP00000249016:G39E;ENSP00000370841:G39E	ENSP00000249016:G39E	G	+	2	0	MCHR1	39405511	1.000000	0.71417	0.868000	0.34077	0.244000	0.25665	4.253000	0.58791	2.251000	0.74343	0.491000	0.48974	GGA		0.692	MCHR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317142.1	NM_005297		3	37	0	0	0	1	0	3	37					A	41075565	G	A	41075565	3	1	247	1	0	0	0	0	1	0	0	0	9382	1174	41	3	118	3	MCHR1	22	41075565	Missense_Mutation	SNP	G	TCGA-HC-A6AQ-01A-11D-A30E-08		41075565	10229001	31	11636											
PANX2	56666	broad.mit.edu	37	chr22	50615615	50615615	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tccgagctcaacttcctgctGcaggagatcgacaactgtta	10	10	9	12	2	1	1	1	0	0	1	4	4	3	1	2	1	5	4	2	1	3	2			TCGA-HC-A6AQ-01A-11D-A30E-08	TCGA-HC-A6AQ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	818ac005-a711-4c39-a06c-d103c59def26	91c131c3-f705-4867-8a15-2661ef72a6c1	g.chr22:50615615G>T	ENST00000395842.2	+	2	474	c.474G>T	c.(472-474)ctG>ctT	p.L158L	PANX2_ENST00000159647.5_Silent_p.L158L	NM_052839.3	NP_443071.2	Q96RD6	PANX2_HUMAN	pannexin 2	158					ion transport (GO:0006811)|protein hexamerization (GO:0034214)|response to ischemia (GO:0002931)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|gap junction (GO:0005921)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	gap junction hemi-channel activity (GO:0055077)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(1)|skin(1)	7		all_cancers(38;1.14e-10)|all_epithelial(38;2.12e-09)|all_lung(38;7.01e-05)|Breast(42;0.000523)|Lung NSC(38;0.0018)|Ovarian(80;0.0365)|Lung SC(80;0.113)		LUAD - Lung adenocarcinoma(64;0.105)		ACTTCCTGCTGCAGGAGATCG	0.677																																						ENST00000395842.2																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(1)|skin(1)	7						c.(472-474)ctG>ctT		pannexin 2							32	27	29					22																	50615615		2200	4295	6495	SO:0001819	synonymous_variant	56666				protein hexamerization|synaptic transmission	gap junction|integral to membrane	gap junction hemi-channel activity|ion channel activity	g.chr22:50615615G>T		CCDS14085.2, CCDS54544.1	22q13.33	2011-12-05			ENSG00000073150	ENSG00000073150		"Ion channels / Pannexins"	8600	protein-coding gene	gene with protein product		608421				14702039, 14597722	Standard	NM_052839		Approved	hPANX2, PX2	uc003bjn.4	Q96RD6	OTTHUMG00000044649	ENST00000395842.2:c.474G>T	22.37:g.50615615G>T						PANX2_ENST00000159647.5_Silent_p.L158L	p.L158L	NM_052839.3	NP_443071.2	Q96RD6	PANX2_HUMAN		LUAD - Lung adenocarcinoma(64;0.105)	2	474	+		all_cancers(38;1.14e-10)|all_epithelial(38;2.12e-09)|all_lung(38;7.01e-05)|Breast(42;0.000523)|Lung NSC(38;0.0018)|Ovarian(80;0.0365)|Lung SC(80;0.113)	158					B7Z684|Q96RD5|Q9UGX8	Silent	SNP	ENST00000395842.2	37	c.474G>T	CCDS14085.2																																																																																				0.677	PANX2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075010.3	NM_052839		4	17	1	0	0.150653	1	0.150653	4	17					T	50615615	G	T	50615615	2	4	247	1	0	0	0	0	0	0	0	1	11421	1306	46	5		5	PANX2	22	50615615	Silent	SNP	G	TCGA-HC-A6AQ-01A-11D-A30E-08	9540050	50615615	688951	32	11637											
RBM41	55285	broad.mit.edu	37	chrX	106358623	106358623	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ggaaggagtgacgatcagctCcctgaaataaagacttttct	13	10	10	8	1	2	3	1	2	1	1	3	6	3	5	1	2	1	1	1	2	4	3			TCGA-HC-A6AQ-01A-11D-A30E-08	TCGA-HC-A6AQ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	818ac005-a711-4c39-a06c-d103c59def26	91c131c3-f705-4867-8a15-2661ef72a6c1	g.chrX:106358623C>A	ENST00000372479.3	-	4	512	c.482G>T	c.(481-483)gGa>gTa	p.G161V	RBM41_ENST00000372487.1_Missense_Mutation_p.G161V|RBM41_ENST00000471079.1_5'UTR|RBM41_ENST00000203616.8_Missense_Mutation_p.G161V	NM_018301.3	NP_060771.3	Q96IZ5	RBM41_HUMAN	RNA binding motif protein 41	161							nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	13						ACGATCAGCTCCCTGAAATAA	0.438																																						ENST00000372487.1																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	13						c.(481-483)gGa>gTa		RNA binding motif protein 41							168	155	159					X																	106358623		2203	4300	6503	SO:0001583	missense	55285						nucleotide binding|RNA binding	g.chrX:106358623C>A	BC006986	CCDS14526.1, CCDS55472.1	Xq22.3	2013-02-12			ENSG00000089682	ENSG00000089682		"RNA binding motif (RRM) containing"	25617	protein-coding gene	gene with protein product						12477932	Standard	NM_001171080		Approved	FLJ11016	uc004emz.3	Q96IZ5	OTTHUMG00000022156	ENST00000372479.3:c.482G>T	X.37:g.106358623C>A	ENSP00000361557:p.Gly161Val					RBM41_ENST00000471079.1_5'UTR|RBM41_ENST00000372479.3_Missense_Mutation_p.G161V|RBM41_ENST00000203616.8_Missense_Mutation_p.G161V	p.G161V	NM_001171080.1	NP_001164551.1	Q96IZ5	RBM41_HUMAN			4	508	-			161					Q5JSN7|Q5JSN8|Q9H8F7|Q9NV04	Missense_Mutation	SNP	ENST00000372479.3	37	c.482G>T	CCDS14526.1	.	.	.	.	.	.	.	.	.	.	C	18.09	3.546417	0.65198	.	.	ENSG00000089682	ENST00000372487;ENST00000372479;ENST00000203616;ENST00000372482	T;T	0.66638	0.67;-0.22	5.33	5.33	0.75918	.	0.000000	0.85682	D	0.000000	T	0.70945	0.3282	N	0.24115	0.695	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.75042	-0.3457	10	0.87932	D	0	.	13.3553	0.60625	0.0:1.0:0.0:0.0	.	161	Q96IZ5	RBM41_HUMAN	V	161	ENSP00000361565:G161V;ENSP00000361557:G161V	ENSP00000203616:G161V	G	-	2	0	RBM41	106245279	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.390000	0.73204	2.216000	0.71823	0.468000	0.43344	GGA		0.438	RBM41-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057819.1	NM_018301		14	28	1	0	6.31663e-08	1	7.219e-08	14	28					A	106358623	C	A	106358623	3	1	247	1	0	0	0	0	1	0	0	0	13135	855	30	5	784	5	RBM41	23	106358623	Missense_Mutation	SNP	C	TCGA-HC-A6AQ-01A-11D-A30E-08		106358623	48911937	33	11638											
PDIK1L	149420	broad.mit.edu	37	chr1	26449050	26449050	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtacaaattgcatttaaagaTagcagctgggaaacgtgaca	16	9	10	6	1	0	2	0	1	0	1	0	3	0	3	0	1	5	4	0	1	6	5			TCGA-HC-A6AS-01A-11D-A30E-08	TCGA-HC-A6AS-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fb4b9c0-ff21-4077-8c20-0e3acc8d0b39	b4701be8-2c61-4a86-8220-6b3a3550b60e	g.chr1:26449050T>C	ENST00000374271.4	+	4	1295	c.1008T>C	c.(1006-1008)gaT>gaC	p.D336D	PDIK1L_ENST00000374269.1_Silent_p.D336D	NM_001243532.1|NM_001243533.1|NM_152835.4	NP_001230461.1|NP_001230462.1|NP_690048.1	Q8N165	PDK1L_HUMAN	PDLIM1 interacting kinase 1 like	336						nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	7		Colorectal(325;0.000147)|Renal(390;0.00211)|Lung NSC(340;0.00239)|all_lung(284;0.00366)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0589)|all_neural(195;0.0687)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;7.32e-26)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000735)|BRCA - Breast invasive adenocarcinoma(304;0.000973)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.015)|READ - Rectum adenocarcinoma(331;0.0649)		CATTTAAAGATAGCAGCTGGG	0.373																																						ENST00000374271.4																			0				large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	7						c.(1006-1008)gaT>gaC		PDLIM1 interacting kinase 1 like							57	58	57					1																	26449050		2203	4300	6503	SO:0001819	synonymous_variant	149420					nucleus	ATP binding|protein serine/threonine kinase activity	g.chr1:26449050T>C	AF411102	CCDS274.1	1p35.1	2008-02-05			ENSG00000175087	ENSG00000175087			18981	protein-coding gene	gene with protein product		610785				14631099	Standard	NM_152835		Approved	CLIK1L	uc009vsb.3	Q8N165	OTTHUMG00000007511	ENST00000374271.4:c.1008T>C	1.37:g.26449050T>C						PDIK1L_ENST00000374269.1_Silent_p.D336D	p.D336D	NM_001243532.1|NM_001243533.1|NM_152835.4	NP_001230461.1|NP_001230462.1|NP_690048.1	Q8N165	PDK1L_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;7.32e-26)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000735)|BRCA - Breast invasive adenocarcinoma(304;0.000973)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.015)|READ - Rectum adenocarcinoma(331;0.0649)	4	1295	+		Colorectal(325;0.000147)|Renal(390;0.00211)|Lung NSC(340;0.00239)|all_lung(284;0.00366)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0589)|all_neural(195;0.0687)	336					B2R777|D3DPK2|Q5T2I0|Q8NDB3	Silent	SNP	ENST00000374271.4	37	c.1008T>C	CCDS274.1																																																																																				0.373	PDIK1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019752.1	NM_152835		6	62	0	0	0	1	0	6	62					C	26449050	T	C	26449050	2	2	248	1	0	0	0	0	0	0	0	1	11673	1403	49	4		4	PDIK1L	1	26449050	Silent	SNP	T	TCGA-HC-A6AS-01A-11D-A30E-08		26449050	222801571	1	11639											
SPRR2F	6705	broad.mit.edu	37	chr1	153085010	153085010	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttacttgctcttgggtggaCactttggctggcagggtggg	4	13	17	7	0	1	0	0	0	1	0	1	1	1	1	0	6	2	4	0	6	1	4			TCGA-HC-A6AS-01A-11D-A30E-08	TCGA-HC-A6AS-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fb4b9c0-ff21-4077-8c20-0e3acc8d0b39	b4701be8-2c61-4a86-8220-6b3a3550b60e	g.chr1:153085010C>A	ENST00000468739.1	-	2	260	c.200G>T	c.(199-201)tGt>tTt	p.C67F	SPRR2B_ENST00000368752.4_Intron	NM_001014450.1	NP_001014450.1	Q96RM1	SPR2F_HUMAN	small proline-rich protein 2F	67					epidermis development (GO:0008544)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)	cornified envelope (GO:0001533)|cytoplasm (GO:0005737)		p.C67F(1)		large_intestine(1)|lung(1)|prostate(1)|urinary_tract(1)	4	Lung NSC(65;1.49e-28)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			CTTGGGTGGACACTTTGGCTG	0.542																																						ENST00000468739.1																			1	Substitution - Missense(1)	p.C67F(1)	large_intestine(1)	large_intestine(1)|lung(1)|prostate(1)|urinary_tract(1)	4						c.(199-201)tGt>tTt		small proline-rich protein 2F							252	237	242					1																	153085010		2203	4298	6501	SO:0001583	missense	0				keratinization	cornified envelope|cytoplasm		g.chr1:153085010C>A	AF333956	CCDS30867.1	1q21-q22	2008-02-05			ENSG00000244094	ENSG00000244094			11266	protein-coding gene	gene with protein product						8325635, 11279051	Standard	NM_001014450		Approved		uc001fbi.3	Q96RM1	OTTHUMG00000014398	ENST00000468739.1:c.200G>T	1.37:g.153085010C>A	ENSP00000418193:p.Cys67Phe					SPRR2B_ENST00000368752.4_Intron	p.C67F	NM_001014450.1	NP_001014450.1	Q96RM1	SPR2F_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		2	260	-	Lung NSC(65;1.49e-28)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		67					Q5T9T3	Missense_Mutation	SNP	ENST00000468739.1	37	c.200G>T	CCDS30867.1	.	.	.	.	.	.	.	.	.	.	C	5.920	0.353776	0.11182	.	.	ENSG00000244094	ENST00000468739	T	0.33438	1.41	4.0	3.09	0.35607	.	0.203948	0.24779	N	0.035663	T	0.10895	0.0266	.	.	.	0.27899	N	0.939047	B	0.25743	0.133	B	0.27170	0.077	T	0.15292	-1.0442	9	0.87932	D	0	.	7.7382	0.28827	0.0:0.8828:0.0:0.1172	.	67	Q96RM1	SPR2F_HUMAN	F	67	ENSP00000418193:C67F	ENSP00000418193:C67F	C	-	2	0	SPRR2F	151351634	0.375000	0.25089	1.000000	0.80357	0.691000	0.40173	0.762000	0.26503	0.915000	0.36847	-0.699000	0.03677	TGT		0.542	SPRR2F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040056.1			7	286	1	0	2.74318e-10	1	2.85515e-10	7	286					A	153085010	C	A	153085010	3	1	248	1	0	0	0	0	1	0	0	0	15100	478	17	5	22	5	SPRR2F	1	153085010	Missense_Mutation	SNP	C	TCGA-HC-A6AS-01A-11D-A30E-08	126635960	153085010	96165611	2	11640											
PTPN14	5784	broad.mit.edu	37	chr1	214557031	214557031	+	Frame_Shift_Del	DEL	G	G	-																															ctcccggagcatggggatctGgggcaccgattctggagcct																										TCGA-HC-A6AS-01A-11D-A30E-08	TCGA-HC-A6AS-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fb4b9c0-ff21-4077-8c20-0e3acc8d0b39	b4701be8-2c61-4a86-8220-6b3a3550b60e	g.chr1:214557031delG	ENST00000366956.5	-	13	2361	c.2167delC	c.(2167-2169)cagfs	p.Q723fs	PTPN14_ENST00000543945.1_3'UTR	NM_005401.4	NP_005392.2	Q15678	PTN14_HUMAN	protein tyrosine phosphatase, non-receptor type 14	723					lymphangiogenesis (GO:0001946)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of protein export from nucleus (GO:0046825)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	protein tyrosine phosphatase activity (GO:0004725)|receptor tyrosine kinase binding (GO:0030971)|transcription cofactor activity (GO:0003712)			NS(2)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(9)|liver(3)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	58				OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155)		ATGGGGATCTGGGGCACCGAT	0.617																																					Colon(92;557 1424 24372 34121 40073)	ENST00000366956.5																			0				NS(2)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(9)|liver(3)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						c.(2167-2169)agfs		protein tyrosine phosphatase, non-receptor type 14							44	48	47					1																	214557031		2203	4300	6503	SO:0001589	frameshift_variant	5784				lymphangiogenesis	cytoplasm|cytoskeleton	protein tyrosine phosphatase activity|receptor tyrosine kinase binding	g.chr1:214557031delG	X82676	CCDS1514.1	1q32.2	2011-06-09			ENSG00000152104	ENSG00000152104		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"	9647	protein-coding gene	gene with protein product		603155				7733990	Standard	NM_005401		Approved	PEZ	uc001hkk.2	Q15678	OTTHUMG00000037039	ENST00000366956.5:c.2167delC	1.37:g.214557031delG	ENSP00000355923:p.Gln723fs					PTPN14_ENST00000543945.1_3'UTR	p.Q723fs	NM_005401.4	NP_005392.2	Q15678	PTN14_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155)	13	2361	-			723					Q5VSI0	Frame_Shift_Del	DEL	ENST00000366956.5	37	c.2167delC	CCDS1514.1																																																																																				0.617	PTPN14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089918.2	NM_005401		9	98						9	98	---	---	---	---	-	214557031	G	-	214557031	7	5	248	1	0	1	0	1	0	0	0	0	12783	1357	47	0	1424	0	PTPN14	1	214557031	Frame_Shift_Del	DEL	G	TCGA-HC-A6AS-01A-11D-A30E-08	61472021	214557031	34693590	3	11641											
RPS27A	6233	broad.mit.edu	37	chr2	55462094	55462094	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gctggctgtcctgaaatattAtaaggtgagccagttaaagg	12	11	12	6	0	0	2	0	2	0	0	1	2	1	2	2	3	1	3	2	3	6	4			TCGA-HC-A6AS-01A-11D-A30E-08	TCGA-HC-A6AS-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fb4b9c0-ff21-4077-8c20-0e3acc8d0b39	b4701be8-2c61-4a86-8220-6b3a3550b60e	g.chr2:55462094A>G	ENST00000272317.6	+	5	641	c.317A>G	c.(316-318)tAt>tGt	p.Y106C	RPS27A_ENST00000402285.3_Missense_Mutation_p.Y106C|CLHC1_ENST00000407122.1_5'Flank|RPS27A_ENST00000404735.1_Missense_Mutation_p.Y106C|CLHC1_ENST00000401408.1_5'Flank|CLHC1_ENST00000406437.2_5'Flank|CLHC1_ENST00000406076.1_5'Flank|CLHC1_ENST00000494539.1_5'Flank	NM_002954.5	NP_002945.1	P62979	RS27A_HUMAN	ribosomal protein S27a	106					activation of MAPK activity (GO:0000187)|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|cellular response to hypoxia (GO:0071456)|cytokine-mediated signaling pathway (GO:0019221)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|endosomal transport (GO:0016197)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|intracellular transport of virus (GO:0075733)|ion transmembrane transport (GO:0034220)|JNK cascade (GO:0007254)|membrane organization (GO:0061024)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of type I interferon production (GO:0032480)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of apoptotic process (GO:0043065)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of type I interferon production (GO:0032479)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|stress-activated MAPK cascade (GO:0051403)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|transmembrane transport (GO:0055085)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral protein processing (GO:0019082)|viral transcription (GO:0019083)|virion assembly (GO:0019068)	cytosol (GO:0005829)|cytosolic small ribosomal subunit (GO:0022627)|endocytic vesicle membrane (GO:0030666)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|small ribosomal subunit (GO:0015935)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			cervix(1)|ovary(1)|urinary_tract(1)	3						CTGAAATATTATAAGGTGAGC	0.378																																						ENST00000272317.6																			0				cervix(1)|ovary(1)|urinary_tract(1)	3						c.(316-318)tAt>tGt		ribosomal protein S27a							44	43	43					2																	55462094		2203	4300	6503	SO:0001583	missense	6233				activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endocrine pancreas development|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane	metal ion binding|structural constituent of ribosome	g.chr2:55462094A>G	AB007163	CCDS33202.1	2p16	2011-04-06			ENSG00000143947	ENSG00000143947		"S ribosomal proteins"	10417	protein-coding gene	gene with protein product	"ubiquitin carboxyl extension protein 80"	191343				9582194	Standard	NM_001135592		Approved	UBCEP80, Uba80, S27A	uc010yow.2	P62979	OTTHUMG00000151919	ENST00000272317.6:c.317A>G	2.37:g.55462094A>G	ENSP00000272317:p.Tyr106Cys					RPS27A_ENST00000404735.1_Missense_Mutation_p.Y106C|RPS27A_ENST00000402285.3_Missense_Mutation_p.Y106C	p.Y106C	NM_002954.5	NP_002945.1	P62979	RS27A_HUMAN			5	641	+			106					P02248|P02249|P02250|P14798|P62988|Q29120|Q6LBL4|Q6LDU5|Q8WYN8|Q91887|Q91888|Q9BQ77|Q9BWD6|Q9BX98|Q9UEF2|Q9UEG1|Q9UEK8|Q9UPK7	Missense_Mutation	SNP	ENST00000272317.6	37	c.317A>G	CCDS33202.1	.	.	.	.	.	.	.	.	.	.	A	22.0	4.233603	0.79688	.	.	ENSG00000143947	ENST00000402285;ENST00000272317;ENST00000449323;ENST00000404735	T;T;T;T	0.80480	-1.15;-1.15;-1.38;-1.15	5.01	5.01	0.66863	Ribosomal protein S27a (1);	0.000000	0.85682	D	0.000000	D	0.91181	0.7222	H	0.96080	3.765	0.80722	D	1	P	0.48694	0.914	P	0.55112	0.769	D	0.93799	0.7099	10	0.87932	D	0	.	14.7212	0.69308	1.0:0.0:0.0:0.0	.	106	P62979	RS27A_HUMAN	C	106	ENSP00000383981:Y106C;ENSP00000272317:Y106C;ENSP00000408482:Y106C;ENSP00000385659:Y106C	ENSP00000272317:Y106C	Y	+	2	0	RPS27A	55315598	1.000000	0.71417	0.937000	0.37676	0.936000	0.57629	9.021000	0.93673	1.882000	0.54519	0.477000	0.44152	TAT		0.378	RPS27A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324423.15			5	24	0	0	0	1	0	5	24					G	55462094	A	G	55462094	3	3	248	1	0	0	0	0	1	0	0	0	13639	449	16	4	331	4	RPS27A	2	55462094	Missense_Mutation	SNP	A	TCGA-HC-A6AS-01A-11D-A30E-08		55462094	187737279	4	11642											
ATP2B2	491	broad.mit.edu	37	chr3	10452394	10452394	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgagcgtcacgtcctgcagcGcctcccacacgagctgcagg	7	6	12	16	4	1	1	1	1	0	0	3	2	3	1	3	1	5	3	3	1	0	0			TCGA-HC-A6AS-01A-11D-A30E-08	TCGA-HC-A6AS-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fb4b9c0-ff21-4077-8c20-0e3acc8d0b39	b4701be8-2c61-4a86-8220-6b3a3550b60e	g.chr3:10452394G>A	ENST00000352432.4	-	2	374	c.305C>T	c.(304-306)gCg>gTg	p.A102V	ATP2B2_ENST00000360273.2_Missense_Mutation_p.A102V|ATP2B2_ENST00000343816.4_Missense_Mutation_p.A102V|ATP2B2_ENST00000397077.1_Missense_Mutation_p.A102V|ATP2B2_ENST00000383800.4_Missense_Mutation_p.A102V			Q01814	AT2B2_HUMAN	ATPase, Ca++ transporting, plasma membrane 2	102					auditory receptor cell stereocilium organization (GO:0060088)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cerebellar granule cell differentiation (GO:0021707)|cerebellar Purkinje cell differentiation (GO:0021702)|cGMP metabolic process (GO:0046068)|cochlea development (GO:0090102)|cytosolic calcium ion homeostasis (GO:0051480)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|ion transmembrane transport (GO:0034220)|lactation (GO:0007595)|locomotion (GO:0040011)|locomotory behavior (GO:0007626)|neuromuscular process controlling balance (GO:0050885)|neuron differentiation (GO:0030182)|organelle organization (GO:0006996)|otolith mineralization (GO:0045299)|positive regulation of calcium ion transport (GO:0051928)|regulation of cell size (GO:0008361)|regulation of synaptic plasticity (GO:0048167)|sensory perception of sound (GO:0007605)|serotonin metabolic process (GO:0042428)|synapse organization (GO:0050808)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cilium (GO:0005929)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calcium-dependent ATPase activity (GO:0030899)|calcium-transporting ATPase activity (GO:0005388)|calmodulin binding (GO:0005516)|metal ion binding (GO:0046872)|PDZ domain binding (GO:0030165)|protein C-terminus binding (GO:0008022)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						GTCCTGCAGCGCCTCCCACAC	0.562																																					Ovarian(125;1619 1709 15675 19819 38835)	ENST00000397077.1																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						c.(304-306)gCg>gTg		ATPase, Ca++ transporting, plasma membrane 2							196	215	209					3																	10452394		2203	4300	6503	SO:0001583	missense	491				ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation	cytosol|integral to membrane|plasma membrane	ATP binding|calcium ion binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding	g.chr3:10452394G>A	X63575	CCDS2601.1, CCDS33701.1	3p25.3	2010-04-20	2001-12-04		ENSG00000157087	ENSG00000157087	3.6.3.8	"ATPases / P-type"	815	protein-coding gene	gene with protein product	"plasma membrane Ca2+ pump 2", "plasma membrane calcium-transporting ATPase 2"	108733				1313367	Standard	NM_001001331		Approved	PMCA2	uc003bvt.3	Q01814	OTTHUMG00000128679	ENST00000352432.4:c.305C>T	3.37:g.10452394G>A	ENSP00000324172:p.Ala102Val					ATP2B2_ENST00000360273.2_Missense_Mutation_p.A102V|ATP2B2_ENST00000352432.4_Missense_Mutation_p.A102V|ATP2B2_ENST00000343816.4_Missense_Mutation_p.A102V|ATP2B2_ENST00000383800.4_Missense_Mutation_p.A102V	p.A102V			Q01814	AT2B2_HUMAN			5	880	-			102					O00766|Q12994|Q16818	Missense_Mutation	SNP	ENST00000352432.4	37	c.305C>T	CCDS33701.1	.	.	.	.	.	.	.	.	.	.	G	35	5.536237	0.96460	.	.	ENSG00000157087	ENST00000352432;ENST00000383800;ENST00000397077;ENST00000360273;ENST00000343816;ENST00000535386;ENST00000342354	T;T;T;T;T	0.80123	-1.34;-1.34;-1.34;-1.34;-1.34	5.66	5.66	0.87406	ATPase, P-type cation-transporter, N-terminal (2);ATPase,  P-type, cytoplasmic transduction domain A (1);	0.000000	0.85682	D	0.000000	D	0.93301	0.7865	H	0.95816	3.725	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.87578	0.996;0.969;0.998	D	0.94710	0.7891	10	0.87932	D	0	-35.0783	19.7543	0.96284	0.0:0.0:1.0:0.0	.	102;114;102	Q01814-7;Q4LE63;Q01814	.;.;AT2B2_HUMAN	V	102;102;102;102;102;68;102	ENSP00000324172:A102V;ENSP00000373311:A102V;ENSP00000380267:A102V;ENSP00000353414:A102V;ENSP00000344677:A102V	ENSP00000342954:A102V	A	-	2	0	ATP2B2	10427394	1.000000	0.71417	0.955000	0.39395	0.960000	0.62799	9.869000	0.99810	2.680000	0.91292	0.561000	0.74099	GCG		0.562	ATP2B2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000250576.2	NM_001683		31	490	0	0	0	1	0	31	490					A	10452394	G	A	10452394	3	1	248	1	0	0	0	0	1	0	0	0	1140	1087	38	1	3510	1	ATP2B2	3	10452394	Missense_Mutation	SNP	G	TCGA-HC-A6AS-01A-11D-A30E-08		10452394	187570036	5	11643											
ARPP21	10777	broad.mit.edu	37	chr3	35778739	35778739	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	caccagtcagcagcccctgcGaagcgccatggtggggcagt	8	5	14	14	2	1	0	1	0	0	0	1	1	1	0	4	3	4	2	4	3	1	0	rs376713321		TCGA-HC-A6AS-01A-11D-A30E-08	TCGA-HC-A6AS-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fb4b9c0-ff21-4077-8c20-0e3acc8d0b39	b4701be8-2c61-4a86-8220-6b3a3550b60e	g.chr3:35778739G>A	ENST00000187397.4	+	16	1985	c.1529G>A	c.(1528-1530)cGa>cAa	p.R510Q	ARPP21_ENST00000417925.1_Missense_Mutation_p.R476Q|ARPP21_ENST00000337271.5_Missense_Mutation_p.R456Q|ARPP21_ENST00000444190.1_Missense_Mutation_p.R456Q|ARPP21_ENST00000458225.1_Missense_Mutation_p.R476Q	NM_016300.4	NP_057384.2	Q9UBL0	ARP21_HUMAN	cAMP-regulated phosphoprotein, 21kDa	510	Gln-rich.				cellular response to heat (GO:0034605)	cytoplasm (GO:0005737)	nucleic acid binding (GO:0003676)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	61						CAGCCCCTGCGAAGCGCCATG	0.612																																						ENST00000187397.4																			0				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	61						c.(1528-1530)cGa>cAa		cAMP-regulated phosphoprotein, 21kDa							48	56	53					3																	35778739		2202	4300	6502	SO:0001583	missense	10777					cytoplasm	nucleic acid binding	g.chr3:35778739G>A	AA733082	CCDS2661.1, CCDS43063.1, CCDS58823.1, CCDS58824.1	3p24.3	2010-08-12			ENSG00000172995	ENSG00000172995			16968	protein-coding gene	gene with protein product	"R3H domain containing 3"	605488				8120638	Standard	NM_198399		Approved	ARPP-21, TARPP, R3HDM3	uc011axy.2	Q9UBL0	OTTHUMG00000130795	ENST00000187397.4:c.1529G>A	3.37:g.35778739G>A	ENSP00000187397:p.Arg510Gln					ARPP21_ENST00000444190.1_Missense_Mutation_p.R456Q|ARPP21_ENST00000417925.1_Missense_Mutation_p.R476Q|ARPP21_ENST00000458225.1_Missense_Mutation_p.R476Q|ARPP21_ENST00000337271.5_Missense_Mutation_p.R456Q	p.R510Q	NM_016300.4	NP_057384.2	Q9UBL0	ARP21_HUMAN			16	1985	+			510			Gln-rich.		B4DG96|Q49AK3|Q49AS6|Q4G0V4|Q6NYC3|Q86V31|Q9UF93	Missense_Mutation	SNP	ENST00000187397.4	37	c.1529G>A	CCDS2661.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.154700	0.78114	.	.	ENSG00000172995	ENST00000458225;ENST00000337271;ENST00000444190;ENST00000187397;ENST00000417925	T;T;T;T;T	0.60672	0.17;0.17;0.17;0.17;0.17	5.91	5.04	0.67666	.	0.108809	0.64402	D	0.000011	T	0.74703	0.3751	M	0.76328	2.33	0.38009	D	0.934488	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.99;0.998	T	0.75508	-0.3293	10	0.21540	T	0.41	-8.7414	16.9434	0.86224	0.0:0.1351:0.8649:0.0	.	476;510;456	Q9UBL0-3;Q9UBL0;Q9UBL0-4	.;ARP21_HUMAN;.	Q	476;456;456;510;476	ENSP00000414351:R476Q;ENSP00000337792:R456Q;ENSP00000405276:R456Q;ENSP00000187397:R510Q;ENSP00000412326:R476Q	ENSP00000187397:R510Q	R	+	2	0	ARPP21	35753743	1.000000	0.71417	0.897000	0.35233	0.536000	0.34869	5.805000	0.69143	1.498000	0.48600	0.655000	0.94253	CGA		0.612	ARPP21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253334.2	NM_198399		11	108	0	0	0	1	0	11	108					A	35778739	G	A	35778739	3	1	248	1	0	0	0	0	1	0	0	0	978	1058	37	2	1596	2	ARPP21	3	35778739	Missense_Mutation	SNP	G	TCGA-HC-A6AS-01A-11D-A30E-08	25326345	35778739	162243691	6	11644											
UROC1	131669	broad.mit.edu	37	chr3	126202303	126202303	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggccgaatcccccgttgatcAcctcacccctgcaggaggca	8	6	10	17	2	2	1	2	1	0	0	3	3	3	2	6	3	1	3	6	3	1	1			TCGA-HC-A6AS-01A-11D-A30E-08	TCGA-HC-A6AS-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fb4b9c0-ff21-4077-8c20-0e3acc8d0b39	b4701be8-2c61-4a86-8220-6b3a3550b60e	g.chr3:126202303A>G	ENST00000290868.2	-	19	1852	c.1799T>C	c.(1798-1800)gTg>gCg	p.V600A	UROC1_ENST00000383579.3_Missense_Mutation_p.V660A	NM_144639.2	NP_653240.1	Q96N76	HUTU_HUMAN	urocanate hydratase 1	600					cellular nitrogen compound metabolic process (GO:0034641)|histidine catabolic process (GO:0006548)|histidine catabolic process to glutamate and formamide (GO:0019556)|histidine catabolic process to glutamate and formate (GO:0019557)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	urocanate hydratase activity (GO:0016153)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(1)|skin(1)	39				GBM - Glioblastoma multiforme(114;0.17)		CCCGTTGATCACCTCACCCCT	0.597																																						ENST00000290868.2																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(1)|skin(1)	39						c.(1798-1800)gTg>gCg		urocanate hydratase 1																																				SO:0001583	missense	131669				histidine catabolic process	cytosol	urocanate hydratase activity	g.chr3:126202303A>G	AK055862	CCDS3038.1, CCDS54636.1	3q21.2	2012-08-21	2012-08-21		ENSG00000159650	ENSG00000159650	4.2.1.49		26444	protein-coding gene	gene with protein product	"urocanase 1"	613012	"urocanase domain containing 1"			19304569	Standard	NM_144639		Approved	FLJ31300, HMFN0320	uc010hsi.2	Q96N76	OTTHUMG00000162753	ENST00000290868.2:c.1799T>C	3.37:g.126202303A>G	ENSP00000290868:p.Val600Ala					UROC1_ENST00000383579.3_Missense_Mutation_p.V660A	p.V600A	NM_144639.2	NP_653240.1	Q96N76	HUTU_HUMAN		GBM - Glioblastoma multiforme(114;0.17)	19	1852	-			600					E9PE13|Q14C64|Q68CJ7	Missense_Mutation	SNP	ENST00000290868.2	37	c.1799T>C	CCDS3038.1	.	.	.	.	.	.	.	.	.	.	a	7.413	0.635224	0.14322	.	.	ENSG00000159650	ENST00000290868;ENST00000383579	T;T	0.39997	1.05;1.05	5.19	4.04	0.47022	Urocanase domain (2);	0.058034	0.64402	N	0.000002	T	0.34513	0.0900	L	0.37897	1.145	0.54753	D	0.999988	P;B	0.41366	0.747;0.002	P;B	0.47786	0.557;0.047	T	0.24728	-1.0152	10	0.02654	T	1	-0.5856	9.1385	0.36888	0.9125:0.0:0.0875:0.0	.	660;600	E9PE13;Q96N76	.;HUTU_HUMAN	A	600;660	ENSP00000290868:V600A;ENSP00000373073:V660A	ENSP00000290868:V600A	V	-	2	0	UROC1	127684993	1.000000	0.71417	0.999000	0.59377	0.178000	0.23041	6.647000	0.74354	0.833000	0.34828	0.392000	0.25879	GTG		0.597	UROC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370325.2	NM_144639		8	41	0	0	0	1	0	8	41					G	126202303	A	G	126202303	3	3	248	1	0	0	0	0	1	0	0	0	17025	159	6	4	239	4	UROC1	3	126202303	Missense_Mutation	SNP	A	TCGA-HC-A6AS-01A-11D-A30E-08	90423564	126202303	71820127	7	11645											
LDB2	9079	broad.mit.edu	37	chr4	16590333	16590333	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acagaaattaaattacttacAtgcatggctaggatgcttct	14	13	7	7	0	1	1	0	0	1	1	1	2	1	2	0	2	4	3	0	2	6	5			TCGA-HC-A6AS-01A-11D-A30E-08	TCGA-HC-A6AS-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fb4b9c0-ff21-4077-8c20-0e3acc8d0b39	b4701be8-2c61-4a86-8220-6b3a3550b60e	g.chr4:16590333A>G	ENST00000304523.5	-	4	854	c.531T>C	c.(529-531)caT>caC	p.H177H	LDB2_ENST00000503178.2_Splice_Site_p.H53H|LDB2_ENST00000515064.1_Splice_Site_p.H177H|LDB2_ENST00000503829.1_5'UTR|LDB2_ENST00000502640.1_Splice_Site_p.H177H|LDB2_ENST00000441778.2_Splice_Site_p.H177H	NM_001290.3	NP_001281.1	O43679	LDB2_HUMAN	LIM domain binding 2	177					epithelial structure maintenance (GO:0010669)|hair follicle development (GO:0001942)|positive regulation of cellular component biogenesis (GO:0044089)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|somatic stem cell maintenance (GO:0035019)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	LIM domain binding (GO:0030274)|transcription cofactor activity (GO:0003712)			breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(23)|urinary_tract(1)	33						AATTACTTACATGCATGGCTA	0.388																																						ENST00000502640.1																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(23)|urinary_tract(1)	33						c.e4+1		LIM domain binding 2							164	149	154					4																	16590333		2203	4300	6503	SO:0001630	splice_region_variant	9079						LIM domain binding|transcription cofactor activity	g.chr4:16590333A>G	AF068651	CCDS3420.1, CCDS47031.1	4p16	2008-08-01			ENSG00000169744	ENSG00000169744			6533	protein-coding gene	gene with protein product		603450				9853615, 9880598, 10861853	Standard	NM_001290		Approved	CLIM1, LDB1	uc003goz.3	O43679	OTTHUMG00000048212	ENST00000304523.5:c.531+1T>C	4.37:g.16590333A>G						LDB2_ENST00000503178.2_Splice_Site_p.H53_splice|LDB2_ENST00000441778.2_Splice_Site_p.H177_splice|LDB2_ENST00000515064.1_Splice_Site_p.H177_splice|LDB2_ENST00000503829.1_5'UTR|LDB2_ENST00000304523.5_Splice_Site_p.H177_splice	p.H177_splice			O43679	LDB2_HUMAN			4	679	-			177					O60619|O75480	Splice_Site	SNP	ENST00000304523.5	37	c.531_splice	CCDS3420.1	.	.	.	.	.	.	.	.	.	.	A	12.64	1.998863	0.35226	.	.	ENSG00000169744	ENST00000507464	.	.	.	5.17	-0.0353	0.13893	.	.	.	.	.	T	0.55114	0.1900	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.46484	-0.9188	4	.	.	.	-11.7069	8.6837	0.34225	0.69:0.0:0.31:0.0	.	.	.	.	T	99	.	.	M	-	2	0	LDB2	16199431	1.000000	0.71417	0.997000	0.53966	0.999000	0.98932	1.323000	0.33701	-0.142000	0.11354	0.533000	0.62120	ATG		0.388	LDB2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250321.2		Silent	12	76	0	0	0	1	0	12	76					G	16590333	A	G	16590333	5	3	248	1	0	0	0	0	0	0	1	0	8696	231	8	4	719	4	LDB2	4	16590333	Splice_Site	SNP	A	TCGA-HC-A6AS-01A-11D-A30E-08		16590333	174563943	8	11646											
MUC7	4589	broad.mit.edu	37	chr4	71346947	71346947	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagtgaattccccagctccAcaagacaccacagctgcccc	11	5	6	19	0	0	2	0	1	0	1	2	2	2	2	7	0	3	2	7	0	2	1			TCGA-HC-A6AS-01A-11D-A30E-08	TCGA-HC-A6AS-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fb4b9c0-ff21-4077-8c20-0e3acc8d0b39	b4701be8-2c61-4a86-8220-6b3a3550b60e	g.chr4:71346947A>G	ENST00000304887.5	+	3	676	c.486A>G	c.(484-486)ccA>ccG	p.P162P	MUC7_ENST00000413702.1_Silent_p.P162P|MUC7_ENST00000456088.1_Silent_p.P162P|MUC7_ENST00000514512.1_3'UTR	NM_152291.2	NP_689504.2	Q8TAX7	MUC7_HUMAN	mucin 7, secreted	162	Thr-rich.			P -> A (in Ref. 4; AA sequence and 5; AA sequence). {ECO:0000305}.	cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(2)|lung(23)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42			Lung(101;0.211)			CCCCAGCTCCACAAGACACCA	0.517																																						ENST00000413702.1																			0				central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(2)|lung(23)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						c.(484-486)ccA>ccG		mucin 7, secreted							287	250	262					4																	71346947		2203	4300	6503	SO:0001819	synonymous_variant	4589					extracellular region	protein binding	g.chr4:71346947A>G	BC025688	CCDS3541.1	4q13.3	2008-02-05	2006-03-14		ENSG00000171195	ENSG00000171195		"Mucins"	7518	protein-coding gene	gene with protein product		158375	"mucin 7, salivary"			8838308	Standard	NM_152291		Approved	FLJ27047, MG2	uc003hfj.3	Q8TAX7	OTTHUMG00000129916	ENST00000304887.5:c.486A>G	4.37:g.71346947A>G						MUC7_ENST00000304887.5_Silent_p.P162P|MUC7_ENST00000514512.1_3'UTR|MUC7_ENST00000456088.1_Silent_p.P162P	p.P162P	NM_001145006.1	NP_001138478.1	Q8TAX7	MUC7_HUMAN	Lung(101;0.211)		4	774	+			162	P -> A (in Ref. 4; AA sequence and 5; AA sequence).		Thr-rich.		Q9UCD7|Q9UCD8	Silent	SNP	ENST00000304887.5	37	c.486A>G	CCDS3541.1																																																																																				0.517	MUC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252168.2	NM_152291		5	190	0	0	0	1	0	5	190					G	71346947	A	G	71346947	2	3	248	1	0	0	0	0	0	0	0	1	9981	146	6	4		4	MUC7	4	71346947	Silent	SNP	A	TCGA-HC-A6AS-01A-11D-A30E-08	54756614	71346947	119807329	9	11647											
C4orf31	79625	broad.mit.edu	37	chr4	121961146	121961146	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcagcttccactccaaaggCgcatcacagggcgtcactgt	9	8	9	15	2	3	0	3	0	0	0	5	0	5	0	2	2	1	2	2	2	1	1	rs367619657		TCGA-HC-A6AS-01A-11D-A30E-08	TCGA-HC-A6AS-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fb4b9c0-ff21-4077-8c20-0e3acc8d0b39	b4701be8-2c61-4a86-8220-6b3a3550b60e	g.chr4:121961146C>T	ENST00000379692.4	-	3	778	c.252G>A	c.(250-252)gcG>gcA	p.A84A	NDNF_ENST00000506900.1_5'Flank	NM_024574.3	NP_078850.3	Q8TB73	NDNF_HUMAN	neuron-derived neurotrophic factor	84					cell growth (GO:0016049)|extracellular matrix organization (GO:0030198)|negative regulation of neuron apoptotic process (GO:0043524)|neuron migration (GO:0001764)|peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of neuron projection development (GO:0010976)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	glycosaminoglycan binding (GO:0005539)|heparin binding (GO:0008201)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(3)|skin(1)|urinary_tract(1)	29						ACTCCAAAGGCGCATCACAGG	0.522																																						ENST00000379692.4																			0				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(3)|skin(1)|urinary_tract(1)	29						c.(250-252)gcG>gcA		neuron-derived neurotrophic factor		C		1,3841		0,1,1920	90	89	89		252	-11.3	0	4		89	0,8266		0,0,4133	no	coding-synonymous	NDNF	NM_024574.3		0,1,6053	TT,TC,CC		0.0,0.026,0.0083		84/569	121961146	1,12107	1921	4133	6054	SO:0001819	synonymous_variant	79625							g.chr4:121961146C>T	BC019351	CCDS3717.2	4q27	2011-07-05	2011-07-05	2011-07-05	ENSG00000173376	ENSG00000173376			26256	protein-coding gene	gene with protein product			"chromosome 4 open reading frame 31"	C4orf31		12975309, 20969804	Standard	NM_024574		Approved	FLJ23191	uc003idq.1	Q8TB73	OTTHUMG00000132973	ENST00000379692.4:c.252G>A	4.37:g.121961146C>T							p.A84A	NM_024574.3	NP_078850.3	Q8TB73	CD031_HUMAN			3	778	-			84					A8K0Q0|Q6UWE5|Q9H5P7	Silent	SNP	ENST00000379692.4	37	c.252G>A	CCDS3717.2																																																																																				0.522	NDNF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256532.2	NM_024574		5	99	0	0	0	1	0	5	99					T	121961146	C	T	121961146	2	4	248	1	0	0	0	0	0	0	0	1	2261	755	27	1		1	C4orf31	4	121961146	Silent	SNP	C	TCGA-HC-A6AS-01A-11D-A30E-08	50614199	121961146	69193130	10	11648											
EGFLAM	133584	broad.mit.edu	37	chr5	38431360	38431360	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aatggaatcttacaggtggaTaagcagaagatagtggaggg	15	8	15	3	0	1	2	0	0	1	2	1	5	1	5	0	5	2	1	0	5	6	3			TCGA-HC-A6AS-01A-11D-A30E-08	TCGA-HC-A6AS-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fb4b9c0-ff21-4077-8c20-0e3acc8d0b39	b4701be8-2c61-4a86-8220-6b3a3550b60e	g.chr5:38431360T>A	ENST00000354891.3	+	15	2482	c.2136T>A	c.(2134-2136)gaT>gaA	p.D712E	EGFLAM_ENST00000397202.2_Missense_Mutation_p.D78E|EGFLAM_ENST00000322350.5_Missense_Mutation_p.D712E|EGFLAM_ENST00000336740.6_Missense_Mutation_p.D478E	NM_001205301.1	NP_001192230.1	Q63HQ2	EGFLA_HUMAN	EGF-like, fibronectin type III and laminin G domains	712	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				extracellular matrix organization (GO:0030198)|peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)|positive regulation of cell-substrate adhesion (GO:0010811)	basement membrane (GO:0005604)|cell junction (GO:0030054)|interstitial matrix (GO:0005614)|synapse (GO:0045202)	glycosaminoglycan binding (GO:0005539)			NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85	all_lung(31;0.000385)					TACAGGTGGATAAGCAGAAGA	0.478																																					Colon(62;485 1295 3347 17454)	ENST00000322350.5																			0				NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85						c.(2134-2136)gaT>gaA		EGF-like, fibronectin type III and laminin G domains							155	132	140					5																	38431360		2203	4300	6503	SO:0001583	missense	133584					cell junction|proteinaceous extracellular matrix|synapse		g.chr5:38431360T>A	AK097549	CCDS3924.1, CCDS3925.1, CCDS47199.1, CCDS56363.1	5p13.2-p13.1	2014-04-03			ENSG00000164318	ENSG00000164318		"Fibronectin type III domain containing"	26810	protein-coding gene	gene with protein product	"pikachurin", "agrin-like"					18641643, 20078962, 22760553	Standard	NM_182801		Approved	FLJ39155, AGRINL, AGRNL, PIKA	uc003jlc.2	Q63HQ2	OTTHUMG00000131139	ENST00000354891.3:c.2136T>A	5.37:g.38431360T>A	ENSP00000346964:p.Asp712Glu					EGFLAM_ENST00000336740.6_Missense_Mutation_p.D478E|EGFLAM_ENST00000354891.3_Missense_Mutation_p.D712E|EGFLAM_ENST00000397202.2_Missense_Mutation_p.D78E	p.D712E	NM_152403.3	NP_689616.2	Q63HQ2	EGFLA_HUMAN			15	2482	+	all_lung(31;0.000385)		712			Laminin G-like 2.		A8K6D7|Q5U643|Q6P3V1|Q8N124|Q8N197|Q8N7Y0|Q8N8N5|Q8NAL2	Missense_Mutation	SNP	ENST00000354891.3	37	c.2136T>A	CCDS56363.1	.	.	.	.	.	.	.	.	.	.	T	20.4	3.990658	0.74589	.	.	ENSG00000164318	ENST00000354891;ENST00000322350;ENST00000336740;ENST00000397202;ENST00000339580	D;D;D;D	0.88664	-2.08;-2.08;-2.08;-2.41	5.59	0.75	0.18387	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.000000	0.85682	D	0.000000	D	0.92685	0.7675	M	0.76938	2.355	0.80722	D	1	D;B;D	0.89917	1.0;0.22;0.997	D;B;D	0.91635	0.999;0.175;0.966	D	0.90701	0.4620	10	0.59425	D	0.04	-2.0545	9.4685	0.38829	0.0:0.4922:0.0:0.5078	.	478;712;712	Q63HQ2-4;Q63HQ2;Q63HQ2-2	.;EGFLA_HUMAN;.	E	712;712;478;78;478	ENSP00000346964:D712E;ENSP00000313084:D712E;ENSP00000337607:D478E;ENSP00000380385:D78E	ENSP00000313084:D712E	D	+	3	2	EGFLAM	38467117	0.998000	0.40836	0.993000	0.49108	0.951000	0.60555	0.526000	0.22971	0.108000	0.17862	0.460000	0.39030	GAT		0.478	EGFLAM-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000367323.1	NM_152403		11	65	0	0	0	1	0	11	65					A	38431360	T	A	38431360	3	1	248	1	0	0	0	0	1	0	0	0	4966	1403	49	5	2208	5	EGFLAM	5	38431360	Missense_Mutation	SNP	T	TCGA-HC-A6AS-01A-11D-A30E-08		38431360	142483900	11	11649											
GFPT2	9945	broad.mit.edu	37	chr5	179745955	179745955	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gttggtgtgctctatgatagCgctggggcaagggaaacagg	9	9	17	6	1	1	1	0	1	1	0	1	2	1	2	0	5	3	4	0	5	4	3	rs529762937		TCGA-HC-A6AS-01A-11D-A30E-08	TCGA-HC-A6AS-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fb4b9c0-ff21-4077-8c20-0e3acc8d0b39	b4701be8-2c61-4a86-8220-6b3a3550b60e	g.chr5:179745955C>T	ENST00000253778.8	-	10	965	c.796G>A	c.(796-798)Gct>Act	p.A266T	GFPT2_ENST00000520165.1_5'UTR	NM_005110.2	NP_005101.1	O94808	GFPT2_HUMAN	glutamine-fructose-6-phosphate transaminase 2	266	Glutamine amidotransferase type-2. {ECO:0000255|PROSITE-ProRule:PRU00609}.				carbohydrate biosynthetic process (GO:0016051)|cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|energy reserve metabolic process (GO:0006112)|fructose 6-phosphate metabolic process (GO:0006002)|glutamine metabolic process (GO:0006541)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|UDP-N-acetylglucosamine biosynthetic process (GO:0006048)	cytosol (GO:0005829)	carbohydrate binding (GO:0030246)|glutamine-fructose-6-phosphate transaminase (isomerizing) activity (GO:0004360)			breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34	all_cancers(89;4.97e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	Medulloblastoma(196;0.0392)|all_neural(177;0.0529)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		L-Glutamine(DB00130)	TCTATGATAGCGCTGGGGCAA	0.607													C|||	1	0.000199681	8e-04	0	5008	,	,		18796	0		0	False		,,,				2504	0					ENST00000253778.8																			0				breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34						c.e10-1		glutamine-fructose-6-phosphate transaminase 2	L-Glutamine(DB00130)						48	49	49					5																	179745955		2088	4205	6293	SO:0001630	splice_region_variant	9945				dolichol-linked oligosaccharide biosynthetic process|energy reserve metabolic process|fructose 6-phosphate metabolic process|glutamine metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process	cytosol	glutamine-fructose-6-phosphate transaminase (isomerizing) activity|sugar binding	g.chr5:179745955C>T	AB016789	CCDS43411.1	5q	2008-07-18			ENSG00000131459	ENSG00000131459			4242	protein-coding gene	gene with protein product	"glutamine: fructose-6-phosphate aminotransferase 2"	603865				10198162	Standard	NM_005110		Approved	GFAT2	uc003mlw.1	O94808	OTTHUMG00000163442	ENST00000253778.8:c.795-1G>A	5.37:g.179745955C>T						GFPT2_ENST00000520165.1_5'UTR	p.A266_splice	NM_005110.2	NP_005101.1	O94808	GFPT2_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		10	965	-	all_cancers(89;4.97e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	Medulloblastoma(196;0.0392)|all_neural(177;0.0529)	266			Glutamine amidotransferase type-2.		Q53XM2|Q9BWS4	Splice_Site	SNP	ENST00000253778.8	37	c.794_splice	CCDS43411.1	.	.	.	.	.	.	.	.	.	.	C	20.5	3.996497	0.74818	.	.	ENSG00000131459	ENST00000253778;ENST00000518906	T;T	0.81247	0.96;-1.47	5.25	5.25	0.73442	Glutamine amidotransferase, type II (1);	0.000000	0.85682	D	0.000000	D	0.92974	0.7764	H	0.95328	3.655	0.80722	D	1	D	0.89917	1.0	D	0.75020	0.985	D	0.94925	0.8077	9	.	.	.	-21.7842	18.8486	0.92218	0.0:1.0:0.0:0.0	.	266	O94808	GFPT2_HUMAN	T	266;168	ENSP00000253778:A266T;ENSP00000431125:A168T	.	A	-	1	0	GFPT2	179678561	1.000000	0.71417	0.841000	0.33234	0.067000	0.16453	7.676000	0.84012	2.469000	0.83416	0.561000	0.74099	GCT		0.607	GFPT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373444.4	NM_005110	Missense_Mutation	8	34	0	0	0	1	0	8	34					T	179745955	C	T	179745955	5	4	248	1	0	0	0	0	0	0	1	0	6346	782	27	1	1292	1	GFPT2	5	179745955	Splice_Site	SNP	C	TCGA-HC-A6AS-01A-11D-A30E-08	141314595	179745955	1169305	12	11650											
KIAA0319	9856	broad.mit.edu	37	chr6	24564490	24564490	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cccctgactgtcggtgactcGcaagtggaaagtgtacaccc	9	8	11	13	2	0	2	0	2	0	0	2	3	0	3	3	2	1	2	3	2	3	1			TCGA-HC-A6AS-01A-11D-A30E-08	TCGA-HC-A6AS-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fb4b9c0-ff21-4077-8c20-0e3acc8d0b39	b4701be8-2c61-4a86-8220-6b3a3550b60e	g.chr6:24564490G>A	ENST00000378214.3	-	15	2895	c.2371C>T	c.(2371-2373)Cga>Tga	p.R791*	KIAA0319_ENST00000430948.2_Nonsense_Mutation_p.R746*|KIAA0319_ENST00000543707.1_Nonsense_Mutation_p.R791*|KIAA0319_ENST00000537886.1_Nonsense_Mutation_p.R791*|KIAA0319_ENST00000535378.1_Nonsense_Mutation_p.R782*	NM_001168375.1|NM_014809.3	NP_001161847.1|NP_055624.2	Q5VV43	K0319_HUMAN	KIAA0319	791	PKD 5. {ECO:0000255|PROSITE- ProRule:PRU00151}.				negative regulation of dendrite development (GO:2000171)|neuron migration (GO:0001764)	early endosome (GO:0005769)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(3)|endometrium(6)|kidney(3)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	53						TCGGTGACTCGCAAGTGGAAA	0.587																																						ENST00000535378.1																			0				breast(3)|endometrium(6)|kidney(3)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	53						c.(2344-2346)Cga>Tga		KIAA0319							104	84	91					6																	24564490		2203	4300	6503	SO:0001587	stop_gained	9856				negative regulation of dendrite development|neuron migration	early endosome membrane|integral to membrane|plasma membrane	protein binding	g.chr6:24564490G>A	AB002317	CCDS34348.1, CCDS54969.1, CCDS54970.1, CCDS54971.1, CCDS75409.1	6p22.3	2013-12-13			ENSG00000137261	ENSG00000137261			21580	protein-coding gene	gene with protein product	"neuronal migration"	609269				9205841, 15514892	Standard	NM_014809		Approved	NMIG	uc003neh.1	Q5VV43	OTTHUMG00000014358	ENST00000378214.3:c.2371C>T	6.37:g.24564490G>A	ENSP00000367459:p.Arg791*					KIAA0319_ENST00000543707.1_Nonsense_Mutation_p.R791*|KIAA0319_ENST00000537886.1_Nonsense_Mutation_p.R791*|KIAA0319_ENST00000430948.2_Nonsense_Mutation_p.R746*|KIAA0319_ENST00000378214.3_Nonsense_Mutation_p.R791*	p.R782*	NM_001168374.1	NP_001161846.1	Q5VV43	K0319_HUMAN			16	2986	-			791			PKD 5.		A7MD37|B2RTU7|B4DHA7|B4DK75|B7ZML3|F5H123|Q9UJC8|Q9Y4G7	Nonsense_Mutation	SNP	ENST00000378214.3	37	c.2344C>T	CCDS34348.1	.	.	.	.	.	.	.	.	.	.	G	38	7.277386	0.98182	.	.	ENSG00000137261	ENST00000537886;ENST00000535378;ENST00000430948;ENST00000378214;ENST00000543707	.	.	.	4.32	1.14	0.20703	.	1.277500	0.05794	N	0.610884	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07813	T	0.8	-0.0093	12.9857	0.58590	0.0:0.0:0.2299:0.7701	.	.	.	.	X	791;782;746;791;791	.	ENSP00000367459:R791X	R	-	1	2	KIAA0319	24672469	0.998000	0.40836	0.007000	0.13788	0.493000	0.33554	2.889000	0.48601	0.008000	0.14787	0.655000	0.94253	CGA		0.587	KIAA0319-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040009.1	NM_014809		4	71	0	0	0	1	0	4	71					A	24564490	G	A	24564490	4	1	248	1	0	0	0	0	0	1	0	0	8168	1095	38	1	875	1	KIAA0319	6	24564490	Nonsense_Mutation	SNP	G	TCGA-HC-A6AS-01A-11D-A30E-08		24564490	146550577	13	11651											
HIST1H3F	8968	broad.mit.edu	37	chr6	26250482	26250482	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtccttgggcatgatagtcaCtcgcttggcgtggatagcac	7	11	13	10	2	1	1	1	1	0	0	3	2	2	2	1	3	1	3	1	3	2	4			TCGA-HC-A6AS-01A-11D-A30E-08	TCGA-HC-A6AS-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fb4b9c0-ff21-4077-8c20-0e3acc8d0b39	b4701be8-2c61-4a86-8220-6b3a3550b60e	g.chr6:26250482C>T	ENST00000446824.2	-	1	353	c.352G>A	c.(352-354)Gtg>Atg	p.V118M	HIST1H2BH_ENST00000356350.2_5'Flank	NM_021018.2	NP_066298.1	P68431	H31_HUMAN	histone cluster 1, H3f	118					blood coagulation (GO:0007596)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|regulation of gene silencing (GO:0060968)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)			lung(6)|urinary_tract(1)	7						ATGATAGTCACTCGCTTGGCG	0.582											OREG0017241	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000446824.2																			0				lung(6)|urinary_tract(1)	7						c.(352-354)Gtg>Atg		histone cluster 1, H3f							100	95	97					6																	26250482		2203	4300	6503	SO:0001583	missense	8968				blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding	g.chr6:26250482C>T	Z80786	CCDS4600.1	6p22.1	2011-01-27	2006-10-11	2003-03-14	ENSG00000256316	ENSG00000277775		"Histones / Replication-dependent"	4773	protein-coding gene	gene with protein product		602816	"H3 histone family, member I", "histone 1, H3f"	H3FI		9119399, 12408966	Standard	NM_021018		Approved	H3/i	uc003nhg.1	P68431	OTTHUMG00000014435	ENST00000446824.2:c.352G>A	6.37:g.26250482C>T	ENSP00000444823:p.Val118Met		OREG0017241	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	785		p.V118M	NM_021018.2	NP_066298.1	P68431	H31_HUMAN			1	353	-			118					A0PJT7|A5PLR1|P02295|P02296|P16106|Q6ISV8|Q6NWP8|Q6NWP9|Q6NXU4|Q71DJ3|Q93081	Missense_Mutation	SNP	ENST00000446824.2	37	c.352G>A	CCDS4600.1	.	.	.	.	.	.	.	.	.	.	.	16.45	3.127110	0.56721	.	.	ENSG00000256316	ENST00000446824	T	0.50001	0.76	4.82	4.82	0.62117	.	.	.	.	.	T	0.60405	0.2266	.	.	.	0.44254	D	0.997104	.	.	.	.	.	.	T	0.65323	-0.6196	6	0.87932	D	0	.	17.7536	0.88442	0.0:1.0:0.0:0.0	.	.	.	.	M	118	ENSP00000444823:V118M	ENSP00000444823:V118M	V	-	1	0	HIST1H3F	26358461	1.000000	0.71417	1.000000	0.80357	0.256000	0.26092	4.821000	0.62679	2.602000	0.87976	0.561000	0.74099	GTG		0.582	HIST1H3F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040098.1	NM_021018		14	119	0	0	0	1	0	14	119					T	26250482	C	T	26250482	3	4	248	1	0	0	0	0	1	0	0	0	7160	565	20	3	62	3	HIST1H3F	6	26250482	Missense_Mutation	SNP	C	TCGA-HC-A6AS-01A-11D-A30E-08	1685992	26250482	144864585	14	11652											
HIST1H4H	8365	broad.mit.edu	37	chr6	26285590	26285590	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcatagataaggccagaaatTcgcttgacaccgccgcgacg	12	7	10	12	5	1	3	1	1	0	2	2	4	1	3	3	1	0	1	3	1	3	4			TCGA-HC-A6AS-01A-11D-A30E-08	TCGA-HC-A6AS-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fb4b9c0-ff21-4077-8c20-0e3acc8d0b39	b4701be8-2c61-4a86-8220-6b3a3550b60e	g.chr6:26285590T>G	ENST00000377727.1	-	1	147	c.138A>C	c.(136-138)cgA>cgC	p.R46R	HIST1H4H_ENST00000289352.1_Silent_p.R46R	NM_003543.3	NP_003534.1	P62805	H4_HUMAN	histone cluster 1, H4h	46					CENP-A containing nucleosome assembly (GO:0034080)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|histone H4-K20 demethylation (GO:0035574)|mitotic cell cycle (GO:0000278)|negative regulation of megakaryocyte differentiation (GO:0045653)|nucleosome assembly (GO:0006334)|telomere maintenance (GO:0000723)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|histone demethylase activity (H4-K20 specific) (GO:0035575)|poly(A) RNA binding (GO:0044822)			lung(2)|ovary(2)|upper_aerodigestive_tract(3)	7						GGCCAGAAATTCGCTTGACAC	0.547										HNSCC(76;0.23)																												ENST00000289352.1																			0				lung(2)|ovary(2)|upper_aerodigestive_tract(3)	7						c.(136-138)cgA>cgC		histone cluster 1, H4h							141	123	129					6																	26285590		2203	4300	6503	SO:0001819	synonymous_variant	8365				CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding	g.chr6:26285590T>G	X60487	CCDS4604.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000158406	ENSG00000158406		"Histones / Replication-dependent"	4788	protein-coding gene	gene with protein product		602828	"H4 histone family, member H", "histone 1, H4h"	H4FH		9119399, 12408966	Standard	NM_003543		Approved	H4/h	uc003nhm.2	P62805	OTTHUMG00000014454	ENST00000377727.1:c.138A>C	6.37:g.26285590T>G		HNSCC(76;0.23)				HIST1H4H_ENST00000377727.1_Silent_p.R46R	p.R46R			P62805	H4_HUMAN			1	172	-			46					A2VCL0|P02304|P02305|Q6DRA9|Q6FGB8|Q6NWP7	Silent	SNP	ENST00000377727.1	37	c.138A>C	CCDS4604.1																																																																																				0.547	HIST1H4H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040119.1	NM_003543		11	124	0	0	0	1	0	11	124					G	26285590	T	G	26285590	2	3	248	1	0	0	0	0	0	0	0	1	7172	1770	62	5		5	HIST1H4H	6	26285590	Silent	SNP	T	TCGA-HC-A6AS-01A-11D-A30E-08	35108	26285590	144829477	15	11653											
COL12A1	1303	broad.mit.edu	37	chr6	75814962	75814962	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaggtccaacgctgtcctgtGtacatgtgcaagaatttgga	10	11	12	8	1	0	1	0	0	0	1	2	3	2	2	2	2	3	3	2	2	4	2			TCGA-HC-A6AS-01A-11D-A30E-08	TCGA-HC-A6AS-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fb4b9c0-ff21-4077-8c20-0e3acc8d0b39	b4701be8-2c61-4a86-8220-6b3a3550b60e	g.chr6:75814962G>A	ENST00000322507.8	-	54	8534	c.8225C>T	c.(8224-8226)aCa>aTa	p.T2742I	COL12A1_ENST00000483888.2_Missense_Mutation_p.T2742I|COL12A1_ENST00000345356.6_Missense_Mutation_p.T1578I|COL12A1_ENST00000416123.2_Missense_Mutation_p.T2666I	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	2742	Nonhelical region (NC3).				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	collagen type XII trimer (GO:0005595)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|vesicle (GO:0031982)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)			breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						GCTGTCCTGTGTACATGTGCA	0.378																																						ENST00000322507.8																			0				breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						c.(8224-8226)aCa>aTa		collagen, type XII, alpha 1							64	80	75					6																	75814962		1869	4116	5985	SO:0001583	missense	1303				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength	g.chr6:75814962G>A	U73779	CCDS43481.1, CCDS43482.1	6q12-q13	2013-02-11	2003-07-24		ENSG00000111799	ENSG00000111799		"Proteoglycans / Extracellular Matrix : Collagen proteoglycans", "Collagens", "Fibronectin type III domain containing"	2188	protein-coding gene	gene with protein product	"collagen type XII proteoglycan"	120320	"collagen, type XII, alpha 1-like"	COL12A1L		9143499	Standard	XM_006715334		Approved		uc003phs.3	Q99715	OTTHUMG00000015051	ENST00000322507.8:c.8225C>T	6.37:g.75814962G>A	ENSP00000325146:p.Thr2742Ile					COL12A1_ENST00000345356.6_Missense_Mutation_p.T1578I|COL12A1_ENST00000483888.2_Missense_Mutation_p.T2742I|COL12A1_ENST00000416123.2_Missense_Mutation_p.T2666I	p.T2742I	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN			54	8534	-			2742			Nonhelical region (NC3).		O43853|Q15955|Q5VYK1|Q5VYK2|Q71UR3|Q99716	Missense_Mutation	SNP	ENST00000322507.8	37	c.8225C>T	CCDS43482.1	.	.	.	.	.	.	.	.	.	.	G	19.08	3.757608	0.69648	.	.	ENSG00000111799	ENST00000322507;ENST00000425443;ENST00000432784;ENST00000345356;ENST00000416123;ENST00000483888	D;D;D;D;D	0.91295	-2.82;-2.82;-2.82;-2.82;-2.82	5.62	5.62	0.85841	.	0.168895	0.49916	D	0.000122	D	0.91925	0.7443	M	0.64997	1.995	0.47094	D	0.99931	P;P	0.50369	0.934;0.892	P;P	0.52646	0.705;0.511	D	0.92487	0.5997	10	0.87932	D	0	.	19.6611	0.95871	0.0:0.0:1.0:0.0	.	1578;2742	Q99715-2;Q99715	.;COCA1_HUMAN	I	2742;380;2666;1578;2666;2742	ENSP00000325146:T2742I;ENSP00000399812:T380I;ENSP00000305147:T1578I;ENSP00000412864:T2666I;ENSP00000421216:T2742I	ENSP00000325146:T2742I	T	-	2	0	COL12A1	75871682	1.000000	0.71417	0.614000	0.29051	0.590000	0.36582	9.040000	0.93783	2.643000	0.89663	0.655000	0.94253	ACA		0.378	COL12A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041249.3	NM_004370		4	48	0	0	0	1	0	4	48					A	75814962	G	A	75814962	3	1	248	1	0	0	0	0	1	0	0	0	3669	1377	48	3	1018	3	COL12A1	6	75814962	Missense_Mutation	SNP	G	TCGA-HC-A6AS-01A-11D-A30E-08	49529372	75814962	95300105	16	11654											
FNDC1	84624	broad.mit.edu	37	chr6	159653589	159653589	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtccccgtccagcgttctccGcgacagaagctctgtgcacc	6	8	10	17	4	2	1	0	0	2	1	5	2	4	1	5	0	3	3	5	0	1	1			TCGA-HC-A6AS-01A-11D-A30E-08	TCGA-HC-A6AS-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fb4b9c0-ff21-4077-8c20-0e3acc8d0b39	b4701be8-2c61-4a86-8220-6b3a3550b60e	g.chr6:159653589G>A	ENST00000297267.9	+	11	2245	c.2045G>A	c.(2044-2046)cGc>cAc	p.R682H	FNDC1_ENST00000340366.6_Missense_Mutation_p.R619H	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	682	Ser-rich.				cellular response to hypoxia (GO:0071456)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of protein phosphorylation (GO:0001934)|regulation of protein transport (GO:0051223)	cell-cell junction (GO:0005911)|extracellular region (GO:0005576)|mitochondrial membrane (GO:0031966)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.R682H(1)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		AGCGTTCTCCGCGACAGAAGC	0.716																																						ENST00000297267.9																			1	Substitution - Missense(1)	p.R682H(1)	large_intestine(1)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93						c.(2044-2046)cGc>cAc		fibronectin type III domain containing 1							15	18	17					6																	159653589		1954	4109	6063	SO:0001583	missense	84624					extracellular region		g.chr6:159653589G>A	AB058769	CCDS47512.1	6q25	2013-02-11			ENSG00000164694	ENSG00000164694		"Fibronectin type III domain containing"	21184	protein-coding gene	gene with protein product		609991	"fibronectin type III domain containing 2"	FNDC2		11347906	Standard	NM_032532		Approved	bA243O10.1, KIAA1866, dJ322A24.1	uc010kjv.3	Q4ZHG4	OTTHUMG00000015927	ENST00000297267.9:c.2045G>A	6.37:g.159653589G>A	ENSP00000297267:p.Arg682His					FNDC1_ENST00000340366.6_Missense_Mutation_p.R619H	p.R682H	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)	11	2245	+		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)	682			Ser-rich.		A6H8X2|B7ZBR4|B7ZBR5|B9EK49|Q5JPI0|Q5VU31|Q5VU32|Q5VXX4|Q70CQ6|Q96JG1	Missense_Mutation	SNP	ENST00000297267.9	37	c.2045G>A	CCDS47512.1	.	.	.	.	.	.	.	.	.	.	G	13.49	2.251546	0.39797	.	.	ENSG00000164694	ENST00000297267;ENST00000340366	T;T	0.09445	2.98;3.86	4.87	0.863	0.19062	.	0.929336	0.09006	N	0.862294	T	0.02455	0.0075	L	0.34521	1.04	0.09310	N	1	B;B	0.13594	0.008;0.004	B;B	0.13407	0.009;0.002	T	0.45308	-0.9270	10	0.46703	T	0.11	-2.4532	4.2237	0.10570	0.2908:0.1701:0.5391:0.0	.	619;682	Q4ZHG4-2;Q4ZHG4	.;FNDC1_HUMAN	H	682;619	ENSP00000297267:R682H;ENSP00000342460:R619H	ENSP00000297267:R682H	R	+	2	0	FNDC1	159573579	0.029000	0.19370	0.000000	0.03702	0.070000	0.16714	2.496000	0.45346	0.488000	0.27723	-0.122000	0.15005	CGC		0.716	FNDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042897.3	NM_032532		7	52	0	0	0	1	0	7	52					A	159653589	G	A	159653589	3	1	248	1	0	0	0	0	1	0	0	0	5968	1087	38	1	2087	1	FNDC1	6	159653589	Missense_Mutation	SNP	G	TCGA-HC-A6AS-01A-11D-A30E-08	83838627	159653589	11461478	17	11655											
CREB3L2	64764	broad.mit.edu	37	chr7	137569739	137569739	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aacttgccacatgctgtcttAcccacggaggctgtgtaggg	8	10	12	11	1	1	0	0	0	1	0	1	1	1	1	2	3	4	3	2	3	3	3			TCGA-HC-A6AS-01A-11D-A30E-08	TCGA-HC-A6AS-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fb4b9c0-ff21-4077-8c20-0e3acc8d0b39	b4701be8-2c61-4a86-8220-6b3a3550b60e	g.chr7:137569739A>G	ENST00000330387.6	-	10	1622		c.e10+1		CREB3L2_ENST00000456390.1_Silent_p.G424G	NM_194071.3	NP_919047.2	Q70SY1	CR3L2_HUMAN	cAMP responsive element binding protein 3-like 2						cartilage development (GO:0051216)|chondrocyte differentiation (GO:0002062)|ER to Golgi vesicle-mediated transport (GO:0006888)|positive regulation of transcription, DNA-templated (GO:0045893)|response to endoplasmic reticulum stress (GO:0034976)|response to unfolded protein (GO:0006986)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	cAMP response element binding (GO:0035497)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|transcription regulatory region DNA binding (GO:0044212)		FUS/CREB3L2(158)	breast(1)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19						ATGCTGTCTTACCCACGGAGG	0.522			T	FUS	fibromyxoid sarcoma																																	ENST00000330387.6				Dom	yes		7	7q34	64764	T	cAMP responsive element binding protein 3-like 2			M	FUS		fibromyxoid sarcoma	FUS/CREB3L2(158)	0				breast(1)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19						c.e10+1		cAMP responsive element binding protein 3-like 2							86	82	83					7																	137569739		2203	4300	6503	SO:0001630	splice_region_variant	64764				chondrocyte differentiation|positive regulation of transcription, DNA-dependent|response to endoplasmic reticulum stress|response to unfolded protein	endoplasmic reticulum membrane|integral to membrane|nucleus	cAMP response element binding|protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:137569739A>G	AJ549092	CCDS34760.1, CCDS59083.1	7q34	2013-01-10			ENSG00000182158	ENSG00000182158		"basic leucine zipper proteins"	23720	protein-coding gene	gene with protein product		608834					Standard	NM_194071		Approved	BBF2H7, TCAG_1951439	uc003vtw.3	Q70SY1	OTTHUMG00000155744	ENST00000330387.6:c.1270+1T>C	7.37:g.137569739A>G						CREB3L2_ENST00000456390.1_Silent_p.G424G		NM_194071.3	NP_919047.2	Q70SY1	CR3L2_HUMAN			10	1622	-								Q6P454|Q6ZMR6	Splice_Site	SNP	ENST00000330387.6	37		CCDS34760.1	.	.	.	.	.	.	.	.	.	.	A	18.21	3.573481	0.65765	.	.	ENSG00000182158	ENST00000330387	.	.	.	5.69	5.69	0.88448	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.0031	0.80310	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CREB3L2	137220279	1.000000	0.71417	1.000000	0.80357	0.635000	0.38103	4.631000	0.61304	2.187000	0.69744	0.529000	0.55759	.		0.522	CREB3L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341462.1	NM_194071	Intron	22	140	0	0	0	1	0	22	140					G	137569739	A	G	137569739	5	3	248	1	0	0	0	0	0	0	1	0	3857	405	14	4	302	4	CREB3L2	7	137569739	Splice_Site	SNP	A	TCGA-HC-A6AS-01A-11D-A30E-08		137569739	21568924	18	11656											
RB1CC1	9821	broad.mit.edu	37	chr8	53569195	53569195	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagtttctgcttccttcaacGcaagttcaacctctaacttg	9	14	5	13	1	4	0	2	0	2	0	5	0	5	0	2	0	4	4	2	0	4	6			TCGA-HC-A6AS-01A-11D-A30E-08	TCGA-HC-A6AS-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fb4b9c0-ff21-4077-8c20-0e3acc8d0b39	b4701be8-2c61-4a86-8220-6b3a3550b60e	g.chr8:53569195G>A	ENST00000025008.5	-	15	3717	c.3194C>T	c.(3193-3195)gCg>gTg	p.A1065V	RB1CC1_ENST00000435644.2_Missense_Mutation_p.A1065V|RB1CC1_ENST00000539297.1_Missense_Mutation_p.A1065V|RB1CC1_ENST00000521611.1_Intron	NM_014781.4	NP_055596.3	Q8TDY2	RBCC1_HUMAN	RB1-inducible coiled-coil 1	1065					autophagic vacuole assembly (GO:0000045)|cell cycle (GO:0007049)|heart development (GO:0007507)|JNK cascade (GO:0007254)|liver development (GO:0001889)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell size (GO:0045793)|positive regulation of protein phosphorylation (GO:0001934)|regulation of autophagy (GO:0010506)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|pre-autophagosomal structure membrane (GO:0034045)|ULK1-ATG13-FIP200 complex (GO:0070969)				NS(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(19)|ovary(8)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	60		all_cancers(86;0.137)|all_epithelial(80;0.00494)|Lung NSC(129;0.011)|all_lung(136;0.023)				TTCCTTCAACGCAAGTTCAAC	0.383																																					GBM(180;1701 2102 13475 42023 52570)	ENST00000025008.5																			0				NS(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(19)|ovary(8)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	60						c.(3193-3195)gCg>gTg		RB1-inducible coiled-coil 1							68	71	70					8																	53569195		2203	4298	6501	SO:0001583	missense	9821				autophagy|cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex	protein binding	g.chr8:53569195G>A	AB059622	CCDS34892.1, CCDS47856.1	8q11	2014-06-13				ENSG00000023287			15574	protein-coding gene	gene with protein product	"200 kDa FAK family kinase-interacting protein", "phosphatase 1, regulatory subunit 131"	606837				11850849, 7724523, 18443221	Standard	NM_014781		Approved	KIAA0203, Cc1, DRAGOU14, FIP200, ATG17, PPP1R131	uc003xre.4	Q8TDY2		ENST00000025008.5:c.3194C>T	8.37:g.53569195G>A	ENSP00000025008:p.Ala1065Val					RB1CC1_ENST00000435644.2_Missense_Mutation_p.A1065V|RB1CC1_ENST00000539297.1_Missense_Mutation_p.A1065V|RB1CC1_ENST00000521611.1_Intron	p.A1065V	NM_014781.4	NP_055596.3	Q8TDY2	RBCC1_HUMAN			15	3717	-		all_cancers(86;0.137)|all_epithelial(80;0.00494)|Lung NSC(129;0.011)|all_lung(136;0.023)	1065					Q86YR4|Q8WVU9|Q92601	Missense_Mutation	SNP	ENST00000025008.5	37	c.3194C>T	CCDS34892.1	.	.	.	.	.	.	.	.	.	.	G	19.02	3.745000	0.69418	.	.	ENSG00000023287	ENST00000025008;ENST00000435644;ENST00000539297	T;T;T	0.04317	3.65;3.65;3.65	5.4	5.4	0.78164	.	0.000000	0.85682	D	0.000000	T	0.15262	0.0368	L	0.36672	1.1	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.994	T	0.02173	-1.1201	10	0.36615	T	0.2	-18.8612	19.5436	0.95283	0.0:0.0:1.0:0.0	.	1065;1065	Q8TDY2-2;Q8TDY2	.;RBCC1_HUMAN	V	1065	ENSP00000025008:A1065V;ENSP00000396067:A1065V;ENSP00000445960:A1065V	ENSP00000025008:A1065V	A	-	2	0	RB1CC1	53731748	1.000000	0.71417	0.996000	0.52242	0.967000	0.64934	9.065000	0.93941	2.705000	0.92388	0.650000	0.86243	GCG		0.383	RB1CC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000378011.1	NM_014781		3	44	0	0	0	1	0	3	44					A	53569195	G	A	53569195	3	1	248	1	0	0	0	0	1	0	0	0	13099	1087	38	1	1630	1	RB1CC1	8	53569195	Missense_Mutation	SNP	G	TCGA-HC-A6AS-01A-11D-A30E-08		53569195	92794827	19	11657											
ZEB1	6935	broad.mit.edu	37	chr10	31809236	31809236	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catcaccaggcagtcccacaCgaccacagatacggcaaaag	15	3	8	15	2	1	1	1	0	0	1	2	2	2	1	3	2	1	2	3	2	3	1			TCGA-HC-A6AS-01A-11D-A30E-08	TCGA-HC-A6AS-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fb4b9c0-ff21-4077-8c20-0e3acc8d0b39	b4701be8-2c61-4a86-8220-6b3a3550b60e	g.chr10:31809236C>T	ENST00000320985.10	+	7	1083	c.973C>T	c.(973-975)Cga>Tga	p.R325*	ZEB1_ENST00000361642.5_Nonsense_Mutation_p.R326*|ZEB1_ENST00000560721.2_Nonsense_Mutation_p.R305*|ZEB1_ENST00000542815.3_Nonsense_Mutation_p.R258*|ZEB1_ENST00000559858.1_3'UTR|ZEB1_ENST00000446923.2_Nonsense_Mutation_p.R309*			P37275	ZEB1_HUMAN	zinc finger E-box binding homeobox 1	325					cartilage development (GO:0051216)|cell proliferation (GO:0008283)|cellular response to amino acid stimulus (GO:0071230)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cochlea morphogenesis (GO:0090103)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic skeletal system morphogenesis (GO:0048704)|forebrain development (GO:0030900)|immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial cell differentiation (GO:0030857)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|pattern specification process (GO:0007389)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of mesenchymal cell proliferation (GO:0010464)|regulation of smooth muscle cell differentiation (GO:0051150)|regulation of T cell differentiation in thymus (GO:0033081)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|response to activity (GO:0014823)|response to nutrient levels (GO:0031667)|semicircular canal morphogenesis (GO:0048752)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|E-box binding (GO:0070888)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(2)|breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(38)|ovary(3)|skin(6)|upper_aerodigestive_tract(4)	77		Prostate(175;0.0156)				CAGTCCCACACGACCACAGAT	0.428																																					Ovarian(40;423 959 14296 36701 49589)	ENST00000446923.2																			0				NS(2)|breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(38)|ovary(3)|skin(6)|upper_aerodigestive_tract(4)	77	GRCh37	CM075048	ZEB1	M		c.(925-927)Cga>Tga		zinc finger E-box binding homeobox 1							123	122	122					10																	31809236		2203	4300	6503	SO:0001587	stop_gained	6935				cell proliferation|immune response|negative regulation of transcription from RNA polymerase II promoter|positive regulation of neuron differentiation	cytoplasm	E-box binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding	g.chr10:31809236C>T	AK091478	CCDS7169.1, CCDS44370.1, CCDS53505.1, CCDS53506.1, CCDS53507.1	10p11.22	2014-02-14	2007-02-15	2007-02-15	ENSG00000148516	ENSG00000148516		"Zinc fingers, C2H2-type", "Homeoboxes / ZF class"	11642	protein-coding gene	gene with protein product		189909	"transcription factor 8 (represses interleukin 2 expression)", "posterior polymorphous corneal dystrophy 3"	TCF8, PPCD3		1427828, 1840704, 15384081, 16252232	Standard	NM_001128128		Approved	BZP, ZEB, AREB6, NIL-2-A, Zfhep, Zfhx1a, FECD6	uc001ivu.4	P37275	OTTHUMG00000017907	ENST00000320985.10:c.973C>T	10.37:g.31809236C>T	ENSP00000319248:p.Arg325*					ZEB1_ENST00000542815.3_Nonsense_Mutation_p.R258*|ZEB1_ENST00000560721.2_Nonsense_Mutation_p.R305*|ZEB1_ENST00000559858.1_3'UTR|ZEB1_ENST00000361642.5_Nonsense_Mutation_p.R326*|ZEB1_ENST00000320985.10_Nonsense_Mutation_p.R325*	p.R309*	NM_001128128.2|NM_001174094.1	NP_001121600.1|NP_001167565.1	P37275	ZEB1_HUMAN			7	1316	+		Prostate(175;0.0156)	325					B4DJV0|B4DUW9|E9PCM7|F5H4I8|Q12924|Q13800|Q2KJ05|Q5T968|Q5VZ84|Q8NB68	Nonsense_Mutation	SNP	ENST00000320985.10	37	c.925C>T	CCDS7169.1	.	.	.	.	.	.	.	.	.	.	C	15.36	2.810071	0.50421	.	.	ENSG00000148516	ENST00000542879;ENST00000537225;ENST00000361642;ENST00000546250;ENST00000542815;ENST00000320985;ENST00000437844;ENST00000541037;ENST00000543514;ENST00000446923	.	.	.	5.62	2.34	0.29019	.	0.000000	0.56097	D	0.000033	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-13.4882	13.7258	0.62756	0.5245:0.4755:0.0:0.0	.	.	.	.	X	107;325;326;325;258;325;305;184;216;309	.	ENSP00000319248:R325X	R	+	1	2	ZEB1	31849242	0.972000	0.33761	0.989000	0.46669	0.998000	0.95712	2.464000	0.45067	0.663000	0.31027	0.655000	0.94253	CGA		0.428	ZEB1-018	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000419083.2	NM_030751		6	49	0	0	0	1	0	6	49					T	31809236	C	T	31809236	4	4	248	1	0	0	0	0	0	1	0	0	17620	528	19	1	1013	1	ZEB1	10	31809236	Nonsense_Mutation	SNP	C	TCGA-HC-A6AS-01A-11D-A30E-08		31809236	103725511	20	11658											
RASGEF1A	221002	broad.mit.edu	37	chr10	43698747	43698747	+	Splice_Site	DEL	T	T	-																															cagccaggccccgcctcaccTtttcaggcccggcttccagc																										TCGA-HC-A6AS-01A-11D-A30E-08	TCGA-HC-A6AS-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fb4b9c0-ff21-4077-8c20-0e3acc8d0b39	b4701be8-2c61-4a86-8220-6b3a3550b60e	g.chr10:43698747delT	ENST00000395809.1	-	3	2826	c.320delA	c.(319-321)aag>ag	p.K107fs	RASGEF1A_ENST00000472864.1_5'UTR|RASGEF1A_ENST00000395810.1_Splice_Site_p.K107fs|RASGEF1A_ENST00000374459.1_Splice_Site_p.K115fs			Q8N9B8	RGF1A_HUMAN	RasGEF domain family, member 1A	107	N-terminal Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00135}.				cell migration (GO:0016477)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Ras protein signal transduction (GO:0046579)|small GTPase mediated signal transduction (GO:0007264)	intracellular (GO:0005622)	Ras guanyl-nucleotide exchange factor activity (GO:0005088)			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(2)	11						CCGCCTCACCTTTTCAGGCCC	0.697																																						ENST00000395809.1																			0				cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(2)	11						c.e3+1		RasGEF domain family, member 1A							8	8	8					10																	43698747		2136	4212	6348	SO:0001630	splice_region_variant	221002				cell migration|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	Ras guanyl-nucleotide exchange factor activity	g.chr10:43698747delT	AK095136	CCDS7202.2, CCDS60517.1	10q11.21	2006-01-11			ENSG00000198915	ENSG00000198915			24246	protein-coding gene	gene with protein product		614531				12477932	Standard	XM_005271808		Approved	CG4853, FLJ37817	uc001jap.1	Q8N9B8	OTTHUMG00000018025	ENST00000395809.1:c.321+1A>-	10.37:g.43698747delT						RASGEF1A_ENST00000374459.1_Splice_Site_p.K115_splice|RASGEF1A_ENST00000395810.1_Splice_Site_p.K107_splice|RASGEF1A_ENST00000472864.1_5'UTR	p.K107_splice			Q8N9B8	RGF1A_HUMAN			3	2826	-			107			N-terminal Ras-GEF.		Q8TBF1	Splice_Site	DEL	ENST00000395809.1	37	c.321_splice	CCDS7202.2																																																																																				0.697	RASGEF1A-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000313989.1	NM_145313	Frame_Shift_Del	2	4						2	4	---	---	---	---	-	43698747	T	-	43698747	8	5	248	1	0	1	0	1	0	0	1	0	13069	1623	56	0	1169	0	RASGEF1A	10	43698747	Splice_Site	DEL	T	TCGA-HC-A6AS-01A-11D-A30E-08	11889511	43698747	91836000	21	11659											
TRUB1	142940	broad.mit.edu	37	chr10	116734977	116734977	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttcctgaagacaaatggacaAttgatgacattgcacagtct	14	11	8	8	0	1	4	0	3	1	1	2	5	2	5	1	1	1	1	1	1	3	3			TCGA-HC-A6AS-01A-11D-A30E-08	TCGA-HC-A6AS-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fb4b9c0-ff21-4077-8c20-0e3acc8d0b39	b4701be8-2c61-4a86-8220-6b3a3550b60e	g.chr10:116734977A>G	ENST00000298746.3	+	8	950	c.889A>G	c.(889-891)Att>Gtt	p.I297V		NM_139169.4	NP_631908.1	Q8WWH5	TRUB1_HUMAN	TruB pseudouridine (psi) synthase family member 1	297					pseudouridine synthesis (GO:0001522)|tRNA processing (GO:0008033)		pseudouridine synthase activity (GO:0009982)|RNA binding (GO:0003723)			breast(2)|kidney(2)|large_intestine(1)|lung(5)|urinary_tract(2)	12		Colorectal(252;0.09)|Breast(234;0.174)|Lung NSC(174;0.245)		Epithelial(162;0.00879)|all cancers(201;0.0243)		CAAATGGACAATTGATGACAT	0.433																																						ENST00000298746.3																			0				breast(2)|kidney(2)|large_intestine(1)|lung(5)|urinary_tract(2)	12						c.(889-891)Att>Gtt		TruB pseudouridine (psi) synthase family member 1							173	156	162					10																	116734977		2203	4300	6503	SO:0001583	missense	142940				pseudouridine synthesis|tRNA processing		pseudouridine synthase activity|RNA binding	g.chr10:116734977A>G	AF448144	CCDS7591.1	10q25.3	2013-09-02	2013-09-02		ENSG00000165832	ENSG00000165832			16060	protein-coding gene	gene with protein product		610726	"TruB pseudouridine (psi) synthase homolog 1 (E. coli)"			12736709	Standard	NM_139169		Approved	PUS4	uc001lcd.3	Q8WWH5	OTTHUMG00000019094	ENST00000298746.3:c.889A>G	10.37:g.116734977A>G	ENSP00000298746:p.Ile297Val						p.I297V	NM_139169.4	NP_631908.1	Q8WWH5	TRUB1_HUMAN		Epithelial(162;0.00879)|all cancers(201;0.0243)	8	950	+		Colorectal(252;0.09)|Breast(234;0.174)|Lung NSC(174;0.245)	297					B2R716|Q53ES2	Missense_Mutation	SNP	ENST00000298746.3	37	c.889A>G	CCDS7591.1	.	.	.	.	.	.	.	.	.	.	A	14.08	2.428570	0.43122	.	.	ENSG00000165832	ENST00000298746	T	0.13538	2.58	5.56	5.56	0.83823	Pseudouridine synthase, catalytic domain (1);	0.119683	0.64402	D	0.000006	T	0.14743	0.0356	L	0.48986	1.54	0.38135	D	0.938261	B	0.26318	0.146	B	0.22601	0.04	T	0.06303	-1.0834	10	0.29301	T	0.29	-16.9207	14.5741	0.68232	1.0:0.0:0.0:0.0	.	297	Q8WWH5	TRUB1_HUMAN	V	297	ENSP00000298746:I297V	ENSP00000298746:I297V	I	+	1	0	TRUB1	116724967	0.965000	0.33210	0.945000	0.38365	0.993000	0.82548	2.279000	0.43435	2.233000	0.73108	0.459000	0.35465	ATT		0.433	TRUB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050504.1	NM_139169		16	149	0	0	0	1	0	16	149					G	116734977	A	G	116734977	3	3	248	1	0	0	0	0	1	0	0	0	16599	101	4	4	919	4	TRUB1	10	116734977	Missense_Mutation	SNP	A	TCGA-HC-A6AS-01A-11D-A30E-08	73036230	116734977	18799770	22	11660											
B4GALNT4	338707	broad.mit.edu	37	chr11	376692	376692	+	Frame_Shift_Del	DEL	A	A	-																															gcagtggagcagccgcccccAaaggtgtacgtgaccagggt																										TCGA-HC-A6AS-01A-11D-A30E-08	TCGA-HC-A6AS-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fb4b9c0-ff21-4077-8c20-0e3acc8d0b39	b4701be8-2c61-4a86-8220-6b3a3550b60e	g.chr11:376692delA	ENST00000329962.6	+	14	1569	c.1569delA	c.(1567-1569)ccafs	p.P523fs		NM_178537.4	NP_848632.2	Q76KP1	B4GN4_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 4	523	Pro-rich.				metabolic process (GO:0008152)	Golgi cisterna membrane (GO:0032580)|integral component of membrane (GO:0016021)	acetylgalactosaminyltransferase activity (GO:0008376)|N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity (GO:0033842)			endometrium(2)|kidney(4)|large_intestine(1)|liver(2)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	24		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)		AGCCGCCCCCAAAGGTGTACG	0.771																																						ENST00000329962.6																			0				endometrium(2)|kidney(4)|large_intestine(1)|liver(2)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	24						c.(1567-1569)ccfs		beta-1,4-N-acetyl-galactosaminyl transferase 4							2	3	3					11																	376692		1438	3062	4500	SO:0001589	frameshift_variant	338707					Golgi cisterna membrane|integral to membrane	N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity	g.chr11:376692delA	AB089939	CCDS7694.1	11p15.5	2013-02-19			ENSG00000182272	ENSG00000182272	2.4.1.-	"Beta 4-glycosyltransferases"	26315	protein-coding gene	gene with protein product						15044014	Standard	NM_178537		Approved	FLJ25045, NGalNAc-T1	uc001lpb.3	Q76KP1	OTTHUMG00000119075	ENST00000329962.6:c.1569delA	11.37:g.376692delA	ENSP00000328277:p.Pro523fs						p.P523fs	NM_178537.4	NP_848632.2	Q76KP1	B4GN4_HUMAN		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)	14	1569	+		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)	523			Pro-rich.		Q96LV2	Frame_Shift_Del	DEL	ENST00000329962.6	37	c.1569delA	CCDS7694.1																																																																																				0.771	B4GALNT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239289.2	NM_178537		2	4						2	4	---	---	---	---	-	376692	A	-	376692	7	5	248	1	0	1	0	1	0	0	0	0	1269	117	5	0	1623	0	B4GALNT4	11	376692	Frame_Shift_Del	DEL	A	TCGA-HC-A6AS-01A-11D-A30E-08		376692	134629824	23	11661											
TRIM22	10346	broad.mit.edu	37	chr11	5730757	5730757	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cattgtctcatttttcaatgTcacaaaccacggagcactca	12	12	5	12	1	4	0	4	0	1	0	5	1	4	1	1	1	2	1	1	1	2	3			TCGA-HC-A6AS-01A-11D-A30E-08	TCGA-HC-A6AS-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fb4b9c0-ff21-4077-8c20-0e3acc8d0b39	b4701be8-2c61-4a86-8220-6b3a3550b60e	g.chr11:5730757T>G	ENST00000379965.3	+	8	1653	c.1376T>G	c.(1375-1377)gTc>gGc	p.V459G	TRIM5_ENST00000380027.1_Intron	NM_001199573.1|NM_006074.4	NP_001186502.1|NP_006065.2	Q8IYM9	TRI22_HUMAN	tripartite motif containing 22	459	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				defense response to virus (GO:0051607)|immune response (GO:0006955)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein trimerization (GO:0070206)|protein ubiquitination (GO:0016567)|regulation of transcription, DNA-templated (GO:0006355)|response to virus (GO:0009615)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			kidney(3)|large_intestine(8)|lung(9)|prostate(1)|stomach(2)	23		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;7.54e-09)|BRCA - Breast invasive adenocarcinoma(625;0.14)		TTTTTCAATGTCACAAACCAC	0.463																																					GBM(104;491 2336 5222)	ENST00000379965.3																			0				kidney(3)|large_intestine(8)|lung(9)|prostate(1)|stomach(2)	23						c.(1375-1377)gTc>gGc		tripartite motif containing 22							126	131	129					11																	5730757		2201	4297	6498	SO:0001583	missense	10346				immune response|interspecies interaction between organisms|protein trimerization|response to virus	Cajal body|Golgi apparatus|nuclear speck	ligase activity|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding	g.chr11:5730757T>G	X82200	CCDS41612.1	11p15	2013-01-09	2011-01-25		ENSG00000132274	ENSG00000132274		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	16379	protein-coding gene	gene with protein product		606559	"tripartite motif-containing 22"			11331580, 11096452	Standard	NM_006074		Approved	STAF50, GPSTAF50, RNF94	uc001mbr.3	Q8IYM9	OTTHUMG00000066904	ENST00000379965.3:c.1376T>G	11.37:g.5730757T>G	ENSP00000369299:p.Val459Gly					TRIM5_ENST00000380027.1_Intron	p.V459G	NM_001199573.1|NM_006074.4	NP_001186502.1|NP_006065.2	Q8IYM9	TRI22_HUMAN		Epithelial(150;7.54e-09)|BRCA - Breast invasive adenocarcinoma(625;0.14)	8	1653	+		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)	459			B30.2/SPRY.		Q05CQ0|Q15521	Missense_Mutation	SNP	ENST00000379965.3	37	c.1376T>G	CCDS41612.1	.	.	.	.	.	.	.	.	.	.	T	16.93	3.259274	0.59321	.	.	ENSG00000132274	ENST00000379965;ENST00000545338;ENST00000455293	T	0.68624	-0.34	3.74	3.74	0.42951	Concanavalin A-like lectin/glucanase (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	.	.	.	.	T	0.79417	0.4442	M	0.84326	2.69	0.44092	D	0.996859	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.996;0.997;0.998	T	0.80195	-0.1483	9	0.87932	D	0	.	6.1839	0.20486	0.0:0.1213:0.0:0.8787	.	381;455;459	F8WAP8;Q8IYM9-2;Q8IYM9	.;.;TRI22_HUMAN	G	459;270;381	ENSP00000369299:V459G	ENSP00000369299:V459G	V	+	2	0	TRIM22	5687333	0.016000	0.18221	0.208000	0.23602	0.908000	0.53690	2.108000	0.41854	1.656000	0.50722	0.383000	0.25322	GTC		0.463	TRIM22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143387.2	NM_006074		12	157	0	0	0	1	0	12	157					G	5730757	T	G	5730757	3	3	248	1	0	0	0	0	1	0	0	0	16493	1667	58	5	1402	5	TRIM22	11	5730757	Missense_Mutation	SNP	T	TCGA-HC-A6AS-01A-11D-A30E-08	5354065	5730757	129275759	24	11662											
CNGA4	1262	broad.mit.edu	37	chr11	6262661	6262661	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ggcactgtccttactctcagGtatcagcacctgcagatcaa	10	10	8	13	0	3	1	3	0	1	1	5	1	4	1	2	2	3	4	2	2	3	2			TCGA-HC-A6AS-01A-11D-A30E-08	TCGA-HC-A6AS-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fb4b9c0-ff21-4077-8c20-0e3acc8d0b39	b4701be8-2c61-4a86-8220-6b3a3550b60e	g.chr11:6262661G>A	ENST00000379936.2	+	5	1033	c.918G>A	c.(916-918)tgG>tgA	p.W306*	CNGA4_ENST00000533426.1_Splice_Site_p.W75*	NM_001037329.3	NP_001032406.1	Q8IV77	CNGA4_HUMAN	cyclic nucleotide gated channel alpha 4	306					phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|sensory perception of smell (GO:0007608)	integral component of plasma membrane (GO:0005887)	cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|intracellular cAMP activated cation channel activity (GO:0005222)|intracellular cGMP activated cation channel activity (GO:0005223)|voltage-gated potassium channel activity (GO:0005249)			endometrium(2)|kidney(1)|large_intestine(9)|lung(24)|prostate(3)|skin(1)	40		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;2.04e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TTACTCTCAGGTATCAGCACC	0.552																																						ENST00000379936.2																			0				endometrium(2)|kidney(1)|large_intestine(9)|lung(24)|prostate(3)|skin(1)	40						c.e5-1		cyclic nucleotide gated channel alpha 4							91	82	85					11																	6262661		2201	4296	6497	SO:0001630	splice_region_variant	1262				response to stimulus|sensory perception of smell		cAMP binding	g.chr11:6262661G>A	AK122736	CCDS31408.1	11p15.4	2011-07-05		2002-01-18		ENSG00000132259		"Voltage-gated ion channels / Cyclic nucleotide-regulated channels"	2152	protein-coding gene	gene with protein product		609472	"cyclic nucleotide gated channel beta 2"	CNCA2, CNGB2		11764791, 16382102	Standard	NM_001037329		Approved	OCNC2, OCNCb, CNG5	uc001mco.3	Q8IV77		ENST00000379936.2:c.918-1G>A	11.37:g.6262661G>A						CNGA4_ENST00000533426.1_Splice_Site_p.W75_splice	p.W306_splice	NM_001037329.3	NP_001032406.1	Q8IV77	CNGA4_HUMAN		Epithelial(150;2.04e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)	5	1033	+		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)	306						Splice_Site	SNP	ENST00000379936.2	37	c.917_splice	CCDS31408.1	.	.	.	.	.	.	.	.	.	.	G	34	5.332743	0.95733	.	.	ENSG00000132259	ENST00000533426;ENST00000379936	.	.	.	5.19	5.19	0.71726	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.4408	0.87564	0.0:0.0:1.0:0.0	.	.	.	.	X	75;306	.	.	W	+	3	0	CNGA4	6219237	1.000000	0.71417	1.000000	0.80357	0.733000	0.41908	7.405000	0.80007	2.691000	0.91804	0.655000	0.94253	TGG		0.552	CNGA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383765.2	NM_001037329	Nonsense_Mutation	21	110	0	0	0	1	0	21	110					A	6262661	G	A	6262661	5	1	248	1	0	0	0	0	0	0	1	0	3599	1275	44	3	936	3	CNGA4	11	6262661	Splice_Site	SNP	G	TCGA-HC-A6AS-01A-11D-A30E-08	531904	6262661	128743855	25	11663											
NDUFV1	4723	broad.mit.edu	37	chr11	67375940	67375940	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caccaacctgtacggccgccAtgactggaggtgagacagtg	10	6	13	12	2	0	2	0	2	0	1	0	4	0	3	4	3	2	1	4	3	2	1			TCGA-HC-A6AS-01A-11D-A30E-08	TCGA-HC-A6AS-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fb4b9c0-ff21-4077-8c20-0e3acc8d0b39	b4701be8-2c61-4a86-8220-6b3a3550b60e	g.chr11:67375940A>G	ENST00000322776.6	+	2	299	c.146A>G	c.(145-147)cAt>cGt	p.H49R	C11orf72_ENST00000446232.1_5'Flank|C11orf72_ENST00000333139.3_5'Flank|NDUFV1_ENST00000532303.1_Intron|NDUFV1_ENST00000415352.2_Missense_Mutation_p.H42R|RP11-655M14.12_ENST00000533876.1_RNA|NDUFV1_ENST00000529927.1_Missense_Mutation_p.H40R	NM_001166102.1|NM_007103.3	NP_001159574.1|NP_009034.2	P49821	NDUV1_HUMAN	NADH dehydrogenase (ubiquinone) flavoprotein 1, 51kDa	49					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)	4 iron, 4 sulfur cluster binding (GO:0051539)|FMN binding (GO:0010181)|metal ion binding (GO:0046872)|NAD binding (GO:0051287)|NADH dehydrogenase (ubiquinone) activity (GO:0008137)			breast(1)|endometrium(3)|large_intestine(2)|lung(7)|prostate(1)|skin(2)	16						TACGGCCGCCATGACTGGAGG	0.557																																						ENST00000322776.6																			0				breast(1)|endometrium(3)|large_intestine(2)|lung(7)|prostate(1)|skin(2)	16						c.(145-147)cAt>cGt		NADH dehydrogenase (ubiquinone) flavoprotein 1, 51kDa	NADH(DB00157)						161	166	164					11																	67375940		2200	4295	6495	SO:0001583	missense	4723				mitochondrial electron transport, NADH to ubiquinone|transport	mitochondrial respiratory chain complex I	4 iron, 4 sulfur cluster binding|FMN binding|metal ion binding|NAD binding|NADH dehydrogenase (ubiquinone) activity	g.chr11:67375940A>G	AF092131	CCDS8173.1, CCDS53669.1	11q13	2011-07-04	2002-08-29		ENSG00000167792	ENSG00000167792	1.6.5.3	"Mitochondrial respiratory chain complex / Complex I"	7716	protein-coding gene	gene with protein product	"complex I 51kDa subunit", "NADH dehydrogenase [ubiquinone] flavoprotein 1, mitochondrial"	161015	"NADH dehydrogenase (ubiquinone) flavoprotein 1 (51kD)"			1478657	Standard	NM_007103		Approved	CI-51K	uc001omj.2	P49821	OTTHUMG00000166215	ENST00000322776.6:c.146A>G	11.37:g.67375940A>G	ENSP00000322450:p.His49Arg					NDUFV1_ENST00000415352.2_Missense_Mutation_p.H42R|NDUFV1_ENST00000532303.1_Intron|NDUFV1_ENST00000529927.1_Missense_Mutation_p.H40R	p.H49R	NM_001166102.1|NM_007103.3	NP_001159574.1|NP_009034.2	P49821	NDUV1_HUMAN			2	299	+			49					O60924|O60940|Q16104|Q6IBR3|Q96BF8|Q96HS7	Missense_Mutation	SNP	ENST00000322776.6	37	c.146A>G	CCDS8173.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	15.80|15.80	2.939270|2.939270	0.52972|0.52972	.|.	.|.	ENSG00000167792|ENSG00000167792	ENST00000322776;ENST00000528328;ENST00000529927;ENST00000415352;ENST00000529867;ENST00000453836|ENST00000530638	D;D;D;D;D|T	0.81579|0.75589	-1.51;-1.51;-1.51;-1.51;-1.51|-0.95	4.77|4.77	4.77|4.77	0.60923|0.60923	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.83252|0.83252	0.5214|0.5214	M|M	0.84511|0.84511	2.7|2.7	0.80722|0.80722	D|D	1|1	P;P;D|.	0.56746|.	0.529;0.529;0.977|.	B;B;P|.	0.59825|.	0.355;0.254;0.864|.	T|T	0.83037|0.83037	-0.0159|-0.0159	10|7	0.72032|0.33141	D|T	0.01|0.24	-14.6599|-14.6599	12.2739|12.2739	0.54724|0.54724	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	42;40;49|.	G3V0I5;P49821-2;P49821|.	.;.;NDUV1_HUMAN|.	R|V	49;32;40;42;37;49|13	ENSP00000322450:H49R;ENSP00000436906:H32R;ENSP00000436766:H40R;ENSP00000395368:H42R;ENSP00000434438:H37R|ENSP00000436936:M13V	ENSP00000322450:H49R|ENSP00000436936:M13V	H|M	+|+	2|1	0|0	NDUFV1|NDUFV1	67132516|67132516	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.912000|0.912000	0.54170|0.54170	8.768000|8.768000	0.91737|0.91737	2.001000|2.001000	0.58596|0.58596	0.448000|0.448000	0.29417|0.29417	CAT|ATG		0.557	NDUFV1-001	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388406.1	NM_007103		22	282	0	0	0	1	0	22	282					G	67375940	A	G	67375940	3	3	248	1	0	0	0	0	1	0	0	0	10299	217	8	4	152	4	NDUFV1	11	67375940	Missense_Mutation	SNP	A	TCGA-HC-A6AS-01A-11D-A30E-08	61113279	67375940	67630576	26	11664											
TPCN2	219931	broad.mit.edu	37	chr11	68822730	68822730	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	agcacggcggacgtgcgctaCcgcgctgctccctgggagcc	5	5	15	16	6	0	0	0	0	0	0	1	2	1	2	3	3	5	4	3	3	1	1			TCGA-HC-A6AS-01A-11D-A30E-08	TCGA-HC-A6AS-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fb4b9c0-ff21-4077-8c20-0e3acc8d0b39	b4701be8-2c61-4a86-8220-6b3a3550b60e	g.chr11:68822730C>A	ENST00000294309.3	+	4	440	c.339C>A	c.(337-339)taC>taA	p.Y113*	TPCN2_ENST00000542467.1_Nonsense_Mutation_p.Y113*|TPCN2_ENST00000442692.2_3'UTR	NM_139075.3	NP_620714.2	Q8NHX9	TPC2_HUMAN	two pore segment channel 2	113					calcium ion transport (GO:0006816)|cellular calcium ion homeostasis (GO:0006874)|ion transmembrane transport (GO:0034220)|membrane depolarization during action potential (GO:0086010)|release of sequestered calcium ion into cytosol (GO:0051209)|smooth muscle contraction (GO:0006939)|transmembrane transport (GO:0055085)	endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)|NAADP-sensitive calcium-release channel activity (GO:0072345)|protein kinase binding (GO:0019901)|voltage-gated calcium channel activity (GO:0005245)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1)	32			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			ACGTGCGCTACCGCGCTGCTC	0.617																																						ENST00000294309.3																			0				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1)	32						c.(337-339)taC>taA		two pore segment channel 2							130	119	123					11																	68822730		2200	4294	6494	SO:0001587	stop_gained	219931				cellular calcium ion homeostasis|smooth muscle contraction	endosome membrane|integral to membrane|lysosomal membrane	NAADP-sensitive calcium-release channel activity|voltage-gated calcium channel activity	g.chr11:68822730C>A	AK023366	CCDS8189.1	11q13.1	2011-07-05			ENSG00000162341	ENSG00000162341		"Voltage-gated ion channels / Two-pore channels"	20820	protein-coding gene	gene with protein product		612163				16382101	Standard	NM_139075		Approved	TPC2	uc001oos.2	Q8NHX9	OTTHUMG00000167898	ENST00000294309.3:c.339C>A	11.37:g.68822730C>A	ENSP00000294309:p.Tyr113*					TPCN2_ENST00000542467.1_Nonsense_Mutation_p.Y113*|TPCN2_ENST00000442692.2_3'UTR	p.Y113*	NM_139075.3	NP_620714.2	Q8NHX9	TPC2_HUMAN	STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)		4	440	+			113					Q9NT82	Nonsense_Mutation	SNP	ENST00000294309.3	37	c.339C>A	CCDS8189.1	.	.	.	.	.	.	.	.	.	.	C	16.27	3.075254	0.55646	.	.	ENSG00000162341	ENST00000356782;ENST00000294309;ENST00000542467	.	.	.	4.96	3.07	0.35406	.	0.407806	0.25386	N	0.031056	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-12.7521	12.1836	0.54226	0.0:0.7838:0.0:0.2162	.	.	.	.	X	43;113;113	.	ENSP00000294309:Y113X	Y	+	3	2	TPCN2	68579306	0.996000	0.38824	0.703000	0.30354	0.006000	0.05464	0.616000	0.24344	0.243000	0.21327	-1.134000	0.01955	TAC		0.617	TPCN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396878.2	NM_139075		22	155	1	0	5.35356e-11	1	5.68816e-11	22	155					A	68822730	C	A	68822730	4	1	248	1	0	0	0	0	0	1	0	0	16393	518	18	5	353	5	TPCN2	11	68822730	Nonsense_Mutation	SNP	C	TCGA-HC-A6AS-01A-11D-A30E-08	1446790	68822730	66183786	27	11665											
CLPB	81570	broad.mit.edu	37	chr11	72028171	72028171	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcacccactgtggcgatggCgctctcctggccaatgatgt	7	9	12	13	2	1	1	0	1	1	0	2	2	1	1	3	3	1	2	3	3	1	0			TCGA-HC-A6AS-01A-11D-A30E-08	TCGA-HC-A6AS-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fb4b9c0-ff21-4077-8c20-0e3acc8d0b39	b4701be8-2c61-4a86-8220-6b3a3550b60e	g.chr11:72028171C>T	ENST00000294053.3	-	8	1230	c.1057G>A	c.(1057-1059)Gcc>Acc	p.A353T	CLPB_ENST00000543042.1_Missense_Mutation_p.A152T|CLPB_ENST00000437826.2_Missense_Mutation_p.A308T|CLPB_ENST00000340729.5_Missense_Mutation_p.A294T|CLPB_ENST00000538039.1_Missense_Mutation_p.A323T	NM_001258394.1|NM_030813.4	NP_001245323.1|NP_110440.1	Q9H078	CLPB_HUMAN	ClpB caseinolytic peptidase B homolog (E. coli)	353					cellular response to heat (GO:0034605)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)			endometrium(3)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	19						GTGGCGATGGCGCTCTCCTGG	0.612																																						ENST00000294053.3																			0				endometrium(3)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	19						c.(1057-1059)Gcc>Acc		ClpB caseinolytic peptidase B homolog (E. coli)							110	95	101					11																	72028171		2200	4293	6493	SO:0001583	missense	81570				cellular response to heat		ATP binding|nucleoside-triphosphatase activity|protein binding	g.chr11:72028171C>T	BC006404	CCDS8215.1, CCDS58152.1, CCDS58153.1, CCDS58154.1	11q13.4	2013-01-10			ENSG00000162129	ENSG00000162129		"Ankyrin repeat domain containing"	30664	protein-coding gene	gene with protein product	"suppressor of potassium transport defect 3"					11230166, 7835694	Standard	NM_030813		Approved	HSP78, SKD3, FLJ13152	uc010rqy.3	Q9H078	OTTHUMG00000167902	ENST00000294053.3:c.1057G>A	11.37:g.72028171C>T	ENSP00000294053:p.Ala353Thr					CLPB_ENST00000543042.1_Missense_Mutation_p.A152T|CLPB_ENST00000437826.2_Missense_Mutation_p.A308T|CLPB_ENST00000538039.1_Missense_Mutation_p.A323T|CLPB_ENST00000340729.5_Missense_Mutation_p.A294T	p.A353T	NM_001258394.1|NM_030813.4	NP_001245323.1|NP_110440.1	Q9H078	CLPB_HUMAN			8	1230	-			353					B4DXJ7|B4DXP7|E7EWN6|F8W7P6|Q8ND11|Q9H8Y0	Missense_Mutation	SNP	ENST00000294053.3	37	c.1057G>A	CCDS8215.1	.	.	.	.	.	.	.	.	.	.	C	36	5.903110	0.97087	.	.	ENSG00000162129	ENST00000294053;ENST00000538039;ENST00000535990;ENST00000340729;ENST00000437826;ENST00000543042	T;T;T;T;T;T	0.36878	1.23;1.23;1.23;1.23;1.23;1.23	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	T	0.59115	0.2170	M	0.63843	1.955	0.58432	D	0.999995	D;D;D;D;D	0.89917	0.995;0.999;0.999;1.0;1.0	P;D;P;D;D	0.70935	0.492;0.916;0.877;0.971;0.935	T	0.60026	-0.7343	10	0.87932	D	0	-15.4521	18.4028	0.90522	0.0:1.0:0.0:0.0	.	152;294;308;323;353	B4DXW4;F8W7P6;E7EWN6;Q9H078-2;Q9H078	.;.;.;.;CLPB_HUMAN	T	353;323;358;294;308;152	ENSP00000294053:A353T;ENSP00000441518:A323T;ENSP00000443822:A358T;ENSP00000340385:A294T;ENSP00000407296:A308T;ENSP00000439746:A152T	ENSP00000294053:A353T	A	-	1	0	CLPB	71705819	1.000000	0.71417	0.996000	0.52242	0.984000	0.73092	6.903000	0.75703	2.696000	0.92011	0.655000	0.94253	GCC		0.612	CLPB-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000396889.1	NM_030813		4	171	0	0	0	1	0	4	171					T	72028171	C	T	72028171	3	4	248	1	0	0	0	0	1	0	0	0	3551	768	27	1	1106	1	CLPB	11	72028171	Missense_Mutation	SNP	C	TCGA-HC-A6AS-01A-11D-A30E-08	3205441	72028171	62978345	28	11666											
MYO7A	4647	broad.mit.edu	37	chr11	76901186	76901186	+	Splice_Site	DEL	T	T	-																															cagctggctggagctgcaggTtcgtgcgtgtgtatgcacgt																										TCGA-HC-A6AS-01A-11D-A30E-08	TCGA-HC-A6AS-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fb4b9c0-ff21-4077-8c20-0e3acc8d0b39	b4701be8-2c61-4a86-8220-6b3a3550b60e	g.chr11:76901186delT	ENST00000409709.3	+	29	4022		c.e29+2		MYO7A_ENST00000458637.2_Splice_Site|MYO7A_ENST00000409619.2_Splice_Site	NM_000260.3	NP_000251.3	Q13402	MYO7A_HUMAN	myosin VIIA						actin filament-based movement (GO:0030048)|auditory receptor cell stereocilium organization (GO:0060088)|equilibrioception (GO:0050957)|eye photoreceptor cell development (GO:0042462)|intracellular protein transport (GO:0006886)|lysosome organization (GO:0007040)|metabolic process (GO:0008152)|phagolysosome assembly (GO:0001845)|pigment granule transport (GO:0051904)|post-embryonic organ morphogenesis (GO:0048563)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|melanosome (GO:0042470)|myosin VII complex (GO:0031477)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|stereocilium (GO:0032420)|synapse (GO:0045202)	actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|spectrin binding (GO:0030507)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						GAGCTGCAGGTTCgtgcgtgt	0.622																																						ENST00000409709.3																			0				NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	GRCh37	CS971821	MYO7A	S		c.e29+2		myosin VIIA							18	22	21					11																	76901186		2123	4195	6318	SO:0001630	splice_region_variant	4647				actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception	cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse	actin binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr11:76901186delT	U39226	CCDS53683.1, CCDS53684.1, CCDS53685.1	11q13.5	2013-01-08	2005-09-12		ENSG00000137474	ENSG00000137474		"A-kinase anchor proteins", "Myosins / Myosin superfamily : Class VII"	7606	protein-coding gene	gene with protein product		276903	"myosin VIIA (Usher syndrome 1B (autosomal recessive, severe))"	USH1B, DFNB2, DFNA11		8884266	Standard	NM_000260		Approved	NSRD2	uc001oyb.2	Q13402	OTTHUMG00000152822	ENST00000409709.3:c.3750+2T>-	11.37:g.76901186delT						MYO7A_ENST00000409619.2_Splice_Site|MYO7A_ENST00000458637.2_Splice_Site		NM_000260.3	NP_000251.3	Q13402	MYO7A_HUMAN			29	4022	+								B9A011|F8VUN5|P78427|Q13321|Q14785|Q92821|Q92822	Splice_Site	DEL	ENST00000409709.3	37		CCDS53683.1																																																																																				0.622	MYO7A-001	KNOWN	non_canonical_conserved|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000328133.1	NM_000260	Intron	2	4						2	4	---	---	---	---	-	76901186	T	-	76901186	8	5	248	1	0	1	0	1	0	0	1	0	10082	1739	60	0	3896	0	MYO7A	11	76901186	Splice_Site	DEL	T	TCGA-HC-A6AS-01A-11D-A30E-08	4873015	76901186	58105330	29	11667											
C13orf16	121793	broad.mit.edu	37	chr13	111996453	111996453	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cagggacaataacagaagccGaagaaactgaggactgactg	17	4	12	8	1	0	4	0	2	0	2	0	7	0	6	1	2	3	0	1	2	5	1	rs560755834		TCGA-HC-A6AS-01A-11D-A30E-08	TCGA-HC-A6AS-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fb4b9c0-ff21-4077-8c20-0e3acc8d0b39	b4701be8-2c61-4a86-8220-6b3a3550b60e	g.chr13:111996453G>A	ENST00000283547.1	+	6	568	c.439G>A	c.(439-441)Gaa>Aaa	p.E147K		NM_152324.1	NP_689537.1	Q8N6K0	TEX29_HUMAN	testis expressed 29	147						integral component of membrane (GO:0016021)											AACAGAAGCCGAAGAAACTGA	0.378													G|||	1	0.000199681	0	0	5008	,	,		19334	0		0	False		,,,				2504	0.001					ENST00000283547.1																			0											c.(439-441)Gaa>Aaa		testis expressed 29							94	98	96					13																	111996453		2203	4300	6503	SO:0001583	missense	121793					integral to membrane		g.chr13:111996453G>A	BC029889	CCDS9522.1	13q34	2012-03-23	2012-02-07	2012-02-07	ENSG00000153495	ENSG00000153495			20370	protein-coding gene	gene with protein product			"chromosome 13 open reading frame 16"	C13orf16			Standard	NM_152324		Approved	bA474D23.1, MGC35169	uc001vsa.3	Q8N6K0	OTTHUMG00000017358	ENST00000283547.1:c.439G>A	13.37:g.111996453G>A	ENSP00000283547:p.Glu147Lys						p.E147K	NM_152324.1	NP_689537.1	Q8N6K0	CM016_HUMAN			6	568	+			147						Missense_Mutation	SNP	ENST00000283547.1	37	c.439G>A	CCDS9522.1	.	.	.	.	.	.	.	.	.	.	G	14.13	2.442974	0.43326	.	.	ENSG00000153495	ENST00000283547	.	.	.	3.12	2.27	0.28462	.	.	.	.	.	T	0.28732	0.0712	L	0.27053	0.805	0.09310	N	1	D	0.71674	0.998	P	0.48030	0.564	T	0.10222	-1.0639	8	0.87932	D	0	0.1083	5.907	0.19006	0.1448:0.0:0.8552:0.0	.	147	Q8N6K0	CM016_HUMAN	K	147	.	ENSP00000283547:E147K	E	+	1	0	C13orf16	110794454	0.001000	0.12720	0.002000	0.10522	0.001000	0.01503	0.372000	0.20467	0.877000	0.35895	0.561000	0.74099	GAA		0.378	TEX29-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045812.2	NM_152324		5	53	0	0	0	1	0	5	53					A	111996453	G	A	111996453	3	1	248	1	0	0	0	0	1	0	0	0	1719	1059	37	2	457	2	C13orf16	13	111996453	Missense_Mutation	SNP	G	TCGA-HC-A6AS-01A-11D-A30E-08		111996453	3173425	30	11668											
PSME1	5720	broad.mit.edu	37	chr14	24606557	24606557	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctcaatgaagccaacttgAgcaatctgaaggccccattg	12	9	8	12	0	2	3	1	3	2	0	3	3	2	3	3	1	3	1	3	1	5	2			TCGA-HC-A6AS-01A-11D-A30E-08	TCGA-HC-A6AS-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fb4b9c0-ff21-4077-8c20-0e3acc8d0b39	b4701be8-2c61-4a86-8220-6b3a3550b60e	g.chr14:24606557A>G	ENST00000206451.6	+	4	268	c.163A>G	c.(163-165)Agc>Ggc	p.S55G	PSME1_ENST00000470718.1_3'UTR|EMC9_ENST00000558200.1_5'Flank|PSME1_ENST00000559123.1_5'UTR|RP11-468E2.5_ENST00000558478.1_lincRNA|PSME1_ENST00000561435.1_Missense_Mutation_p.S55G|PSME1_ENST00000382708.3_Missense_Mutation_p.S55G	NM_001281528.1|NM_006263.2	NP_001268457.1|NP_006254.1	Q06323	PSME1_HUMAN	proteasome (prosome, macropain) activator subunit 1 (PA28 alpha)	55			S -> N (in dbSNP:rs1803830).		anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|proteasome activator complex (GO:0008537)|proteasome complex (GO:0000502)	endopeptidase activator activity (GO:0061133)			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	11				GBM - Glioblastoma multiforme(265;0.00831)		AGCCAACTTGAGCAATCTGAA	0.557																																						ENST00000382708.3																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	11						c.(163-165)Agc>Ggc		proteasome (prosome, macropain) activator subunit 1 (PA28 alpha)							101	111	108					14																	24606557		2203	4300	6503	SO:0001583	missense	5720				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|proteasome activator complex		g.chr14:24606557A>G		CCDS9612.1, CCDS41930.1, CCDS61415.1	14q11.2	2008-08-29			ENSG00000092010	ENSG00000092010		"Proteasome (prosome, macropain) subunits"	9568	protein-coding gene	gene with protein product		600654				8269930	Standard	NM_006263		Approved	IFI5111, PA28alpha	uc001wmh.3	Q06323	OTTHUMG00000028795	ENST00000206451.6:c.163A>G	14.37:g.24606557A>G	ENSP00000206451:p.Ser55Gly					PSME1_ENST00000561435.1_Missense_Mutation_p.S55G|PSME1_ENST00000206451.6_Missense_Mutation_p.S55G|PSME1_ENST00000470718.1_3'UTR|PSME1_ENST00000559123.1_5'UTR	p.S55G	NM_176783.1	NP_788955.1	Q06323	PSME1_HUMAN		GBM - Glioblastoma multiforme(265;0.00831)	4	226	+			55		S -> N (in dbSNP:rs1803830).			A6NJG9|H0YNE3|Q6IBM2|Q9UEF4	Missense_Mutation	SNP	ENST00000206451.6	37	c.163A>G	CCDS9612.1	.	.	.	.	.	.	.	.	.	.	a	11.95	1.791347	0.31685	.	.	ENSG00000092010	ENST00000206451;ENST00000382708	T;T	0.49720	0.77;0.77	4.88	4.88	0.63580	Proteasome activator pa28, REG alpha subunit (2);	0.264964	0.42821	D	0.000648	T	0.53158	0.1779	M	0.72894	2.215	0.41091	D	0.985593	P;P	0.49447	0.924;0.704	P;B	0.46510	0.519;0.294	T	0.61729	-0.7003	10	0.87932	D	0	-2.8521	12.4921	0.55905	1.0:0.0:0.0:0.0	.	55;55	A6NJG9;Q06323	.;PSME1_HUMAN	G	55	ENSP00000206451:S55G;ENSP00000372155:S55G	ENSP00000206451:S55G	S	+	1	0	PSME1	23676397	0.998000	0.40836	0.998000	0.56505	0.045000	0.14185	3.356000	0.52269	2.065000	0.61736	0.533000	0.62120	AGC		0.557	PSME1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071910.2	NM_006263		8	137	0	0	0	1	0	8	137					G	24606557	A	G	24606557	3	3	248	1	0	0	0	0	1	0	0	0	12706	304	11	4	177	4	PSME1	14	24606557	Missense_Mutation	SNP	A	TCGA-HC-A6AS-01A-11D-A30E-08		24606557	82742983	31	11669											
SEPHS2	22928	broad.mit.edu	37	chr16	30456444	30456444	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccgtccctccttcctcagccGcatcccgaaagcctttgacc	6	9	6	20	3	1	1	1	1	0	0	5	2	5	1	8	0	2	1	8	0	1	2			TCGA-HC-A6AS-01A-11D-A30E-08	TCGA-HC-A6AS-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fb4b9c0-ff21-4077-8c20-0e3acc8d0b39	b4701be8-2c61-4a86-8220-6b3a3550b60e	g.chr16:30456444G>A	ENST00000478753.2	-	1	1058	c.605C>T	c.(604-606)gCg>gTg	p.A202V	SEPHS2_ENST00000542752.1_Missense_Mutation_p.A145V|SEPHS2_ENST00000500504.2_Missense_Mutation_p.A202V			Q99611	SPS2_HUMAN	selenophosphate synthetase 2	202					selenocysteine biosynthetic process (GO:0016260)		ATP binding (GO:0005524)|selenide, water dikinase activity (GO:0004756)			breast(3)|cervix(1)|kidney(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(1)	10						TTCCTCAGCCGCATCCCGAAA	0.527																																					Esophageal Squamous(81;1142 1261 11202 24614 35697)	ENST00000478753.2																			0				breast(3)|cervix(1)|kidney(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(1)	10						c.(604-606)gCg>gTg		selenophosphate synthetase 2							116	113	114					16																	30456444		2151	4240	6391	SO:0001583	missense	22928				selenocysteine biosynthetic process		ATP binding|selenide, water dikinase activity	g.chr16:30456444G>A	BC002381		16p11.2	2013-02-15			ENSG00000179918	ENSG00000179918			19686	protein-coding gene	gene with protein product		606218				10608886	Standard	NM_012248		Approved	SPS2, SPS2b	uc021tgl.1	Q99611	OTTHUMG00000176988	ENST00000478753.2:c.605C>T	16.37:g.30456444G>A	ENSP00000418669:p.Ala202Val					SEPHS2_ENST00000542752.1_Missense_Mutation_p.A145V|SEPHS2_ENST00000500504.2_Missense_Mutation_p.A202V	p.A202V			Q99611	SPS2_HUMAN			1	1058	-			202					Q9BUQ2	Missense_Mutation	SNP	ENST00000478753.2	37	c.605C>T		.	.	.	.	.	.	.	.	.	.	G	16.10	3.028524	0.54790	.	.	ENSG00000179918	ENST00000478753;ENST00000542752;ENST00000418751;ENST00000500504	T;T;T	0.33865	1.39;1.39;1.39	5.51	5.51	0.81932	PurM, N-terminal-like (1);AIR synthase-related protein (1);	0.000000	0.85682	D	0.000000	T	0.31104	0.0786	L	0.39514	1.22	0.80722	D	1	P;P	0.42409	0.779;0.658	B;B	0.39027	0.288;0.079	T	0.03175	-1.1064	10	0.17369	T	0.5	-16.5139	17.2963	0.87171	0.0:0.0:1.0:0.0	.	202;145	Q99611;F5H8F9	SPS2_HUMAN;.	V	202;145;153;202	ENSP00000418669:A202V;ENSP00000443601:A145V;ENSP00000426234:A202V	ENSP00000390233:A153V	A	-	2	0	SEPHS2	30363945	1.000000	0.71417	0.791000	0.31998	0.233000	0.25261	9.366000	0.97143	2.759000	0.94783	0.563000	0.77884	GCG		0.527	SEPHS2-001	KNOWN	basic|seleno	protein_coding	protein_coding	OTTHUMT00000109640.11	NM_012248		4	128	0	0	0	1	0	4	128					A	30456444	G	A	30456444	3	1	248	1	0	0	0	0	1	0	0	0	14055	1087	38	1	745	1	SEPHS2	16	30456444	Missense_Mutation	SNP	G	TCGA-HC-A6AS-01A-11D-A30E-08		30456444	59898309	32	11670											
STXBP2	6813	broad.mit.edu	37	chr19	7707903	7707903	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cctatcccagatcctgaaaaAgatgccgcagtaccagaagg	14	6	9	12	1	0	4	0	1	0	3	2	4	2	4	5	1	2	2	5	1	5	2			TCGA-HC-A6AS-01A-11D-A30E-08	TCGA-HC-A6AS-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fb4b9c0-ff21-4077-8c20-0e3acc8d0b39	b4701be8-2c61-4a86-8220-6b3a3550b60e	g.chr19:7707903A>G	ENST00000221283.5	+	12	1026	c.995A>G	c.(994-996)aAg>aGg	p.K332R	STXBP2_ENST00000602355.1_5'Flank|STXBP2_ENST00000441779.2_Missense_Mutation_p.K343R|STXBP2_ENST00000414284.2_Missense_Mutation_p.K329R	NM_006949.2	NP_008880.2	Q15833	STXB2_HUMAN	syntaxin binding protein 2	332					leukocyte mediated cytotoxicity (GO:0001909)|neutrophil degranulation (GO:0043312)|protein transport (GO:0015031)|regulation of mast cell degranulation (GO:0043304)|vesicle docking involved in exocytosis (GO:0006904)	azurophil granule (GO:0042582)|cytolytic granule (GO:0044194)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|specific granule (GO:0042581)|tertiary granule (GO:0070820)	syntaxin-3 binding (GO:0030348)			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(2)|lung(7)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	23						ATCCTGAAAAAGATGCCGCAG	0.612																																						ENST00000441779.2																			0				breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(2)|lung(7)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	23						c.(1027-1029)aAg>aGg		syntaxin binding protein 2							123	126	125					19																	7707903		2203	4300	6503	SO:0001583	missense	6813				leukocyte mediated cytotoxicity|neutrophil degranulation|protein transport|regulation of mast cell degranulation|vesicle docking involved in exocytosis	azurophil granule|cytolytic granule|cytosol|specific granule|tertiary granule	syntaxin-3 binding	g.chr19:7707903A>G	U63533	CCDS12181.1, CCDS45948.1, CCDS62522.1	19p13.3-p13.2	2014-09-17				ENSG00000076944			11445	protein-coding gene	gene with protein product		601717				8921365	Standard	NM_001127396		Approved	UNC18B, Hunc18b	uc010xjr.3	Q15833		ENST00000221283.5:c.995A>G	19.37:g.7707903A>G	ENSP00000221283:p.Lys332Arg					STXBP2_ENST00000414284.2_Missense_Mutation_p.K329R|STXBP2_ENST00000221283.5_Missense_Mutation_p.K332R	p.K343R	NM_001272034.1	NP_001258963.1	Q15833	STXB2_HUMAN			12	1065	+			332					B4E175|E7EQD5|Q9BU65	Missense_Mutation	SNP	ENST00000221283.5	37	c.1028A>G	CCDS12181.1	.	.	.	.	.	.	.	.	.	.	A	18.28	3.589351	0.66105	.	.	ENSG00000076944	ENST00000221283;ENST00000414284;ENST00000441779;ENST00000543902	T;T;T	0.78595	-1.19;-1.19;-1.19	4.9	4.9	0.64082	.	0.000000	0.85682	D	0.000000	D	0.82342	0.5016	L	0.58925	1.835	0.58432	D	0.999995	D;B;D;D	0.54207	0.965;0.193;0.957;0.965	P;B;P;P	0.57371	0.819;0.147;0.723;0.819	T	0.82987	-0.0184	10	0.49607	T	0.09	-4.5759	12.5087	0.55995	1.0:0.0:0.0:0.0	.	343;298;329;332	E7EQD5;B4DY46;Q15833-2;Q15833	.;.;.;STXB2_HUMAN	R	332;329;343;332	ENSP00000221283:K332R;ENSP00000409471:K329R;ENSP00000413606:K343R	ENSP00000221283:K332R	K	+	2	0	STXBP2	7613903	1.000000	0.71417	1.000000	0.80357	0.233000	0.25261	9.208000	0.95075	1.850000	0.53721	0.377000	0.23210	AAG		0.612	STXBP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460963.1	NM_006949		4	148	0	0	0	1	0	4	148					G	7707903	A	G	7707903	3	3	248	1	0	0	0	0	1	0	0	0	15352	72	3	4	1041	4	STXBP2	19	7707903	Missense_Mutation	SNP	A	TCGA-HC-A6AS-01A-11D-A30E-08		7707903	51421080	33	11671											
ZNF254	9534	broad.mit.edu	37	chr19	24310294	24310294	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatgtgaagaatgtggcaaaTcttttagccaatcctcaacc	14	11	7	9	0	2	2	1	1	1	1	3	2	3	2	3	1	2	1	3	1	7	2	rs554981870		TCGA-HC-A6AS-01A-11D-A30E-08	TCGA-HC-A6AS-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fb4b9c0-ff21-4077-8c20-0e3acc8d0b39	b4701be8-2c61-4a86-8220-6b3a3550b60e	g.chr19:24310294T>G	ENST00000357002.4	+	4	1607	c.1492T>G	c.(1492-1494)Tct>Gct	p.S498A	ZNF254_ENST00000342944.6_Missense_Mutation_p.S413A	NM_001278661.1|NM_001278662.1|NM_001278664.1|NM_001278677.1|NM_001278678.1|NM_203282.2	NP_001265590.1|NP_001265591.1|NP_001265593.1|NP_001265606.1|NP_001265607.1|NP_975011.3	O75437	ZN254_HUMAN	zinc finger protein 254	498					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)						all_cancers(12;0.086)|all_lung(12;0.00528)|Lung NSC(12;0.00731)|all_epithelial(12;0.0186)				ATGTGGCAAATCTTTTAGCCA	0.408																																						ENST00000357002.4																			0											c.(1492-1494)Tct>Gct		zinc finger protein 254							60	62	61					19																	24310294		2201	4297	6498	SO:0001583	missense	9534				negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:24310294T>G	AF054180	CCDS32983.1, CCDS62622.1, CCDS62623.1, CCDS74323.1, CCDS74324.1	19p13	2013-01-08				ENSG00000213096		"Zinc fingers, C2H2-type", "-"	13047	protein-coding gene	gene with protein product		604768	"zinc finger protein 539"	ZNF91L, ZNF539		9653160	Standard	NM_001278661		Approved	HD-ZNF1, BMZF-5	uc002nru.3	O75437		ENST00000357002.4:c.1492T>G	19.37:g.24310294T>G	ENSP00000349494:p.Ser498Ala					ZNF254_ENST00000342944.6_Missense_Mutation_p.S413A	p.S498A	NM_001278661.1|NM_001278662.1|NM_001278664.1|NM_001278677.1|NM_001278678.1|NM_203282.2	NP_001265590.1|NP_001265591.1|NP_001265593.1|NP_001265606.1|NP_001265607.1|NP_975011.3	O75437	ZN254_HUMAN			4	1607	+		all_cancers(12;0.086)|all_lung(12;0.00528)|Lung NSC(12;0.00731)|all_epithelial(12;0.0186)	498					A4QPC0|Q86XL7	Missense_Mutation	SNP	ENST00000357002.4	37	c.1492T>G	CCDS32983.1	.	.	.	.	.	.	.	.	.	.	T	0.001	-3.794782	0.00004	.	.	ENSG00000213096	ENST00000342944;ENST00000357002	T;T	0.35605	1.3;1.3	1.07	-0.329	0.12686	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.12689	0.0308	N	0.04686	-0.185	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.32322	-0.9911	9	0.02654	T	1	.	5.3479	0.16020	0.0:0.0:0.4143:0.5857	.	498	O75437	ZN254_HUMAN	A	413;498	ENSP00000445527:S413A;ENSP00000349494:S498A	ENSP00000445527:S413A	S	+	1	0	ZNF254	24102134	0.000000	0.05858	0.038000	0.18304	0.305000	0.27757	-1.126000	0.03254	-0.309000	0.08779	-0.762000	0.03455	TCT		0.408	ZNF254-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466453.1	NM_004876		4	84	0	0	0	1	0	4	84					G	24310294	T	G	24310294	3	3	248	1	0	0	0	0	1	0	0	0	17795	1435	50	5	1506	5	ZNF254	19	24310294	Missense_Mutation	SNP	T	TCGA-HC-A6AS-01A-11D-A30E-08	16602391	24310294	34818689	34	11672			1	27		2	2	12	N	T_A	1.385795e-05
ZNF254	9534	broad.mit.edu	37	chr19	24310305	24310305	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgtggcaaatcttttagccaAtcctcaacccttactacaca	12	12	4	13	0	2	0	1	0	1	0	3	0	3	0	3	1	4	1	3	1	6	4	rs558737751	byFrequency	TCGA-HC-A6AS-01A-11D-A30E-08	TCGA-HC-A6AS-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fb4b9c0-ff21-4077-8c20-0e3acc8d0b39	b4701be8-2c61-4a86-8220-6b3a3550b60e	g.chr19:24310305A>G	ENST00000357002.4	+	4	1618	c.1503A>G	c.(1501-1503)caA>caG	p.Q501Q	ZNF254_ENST00000342944.6_Silent_p.Q416Q	NM_001278661.1|NM_001278662.1|NM_001278664.1|NM_001278677.1|NM_001278678.1|NM_203282.2	NP_001265590.1|NP_001265591.1|NP_001265593.1|NP_001265606.1|NP_001265607.1|NP_975011.3	O75437	ZN254_HUMAN	zinc finger protein 254	501					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)						all_cancers(12;0.086)|all_lung(12;0.00528)|Lung NSC(12;0.00731)|all_epithelial(12;0.0186)				CTTTTAGCCAATCCTCAACCC	0.403													A|||	2	0.000399361	0	0	5008	,	,		19973	0		0	False		,,,				2504	0.002					ENST00000357002.4																			0											c.(1501-1503)caA>caG		zinc finger protein 254							58	60	60					19																	24310305		2200	4296	6496	SO:0001819	synonymous_variant	9534				negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:24310305A>G	AF054180	CCDS32983.1, CCDS62622.1, CCDS62623.1, CCDS74323.1, CCDS74324.1	19p13	2013-01-08				ENSG00000213096		"Zinc fingers, C2H2-type", "-"	13047	protein-coding gene	gene with protein product		604768	"zinc finger protein 539"	ZNF91L, ZNF539		9653160	Standard	NM_001278661		Approved	HD-ZNF1, BMZF-5	uc002nru.3	O75437		ENST00000357002.4:c.1503A>G	19.37:g.24310305A>G						ZNF254_ENST00000342944.6_Silent_p.Q416Q	p.Q501Q	NM_001278661.1|NM_001278662.1|NM_001278664.1|NM_001278677.1|NM_001278678.1|NM_203282.2	NP_001265590.1|NP_001265591.1|NP_001265593.1|NP_001265606.1|NP_001265607.1|NP_975011.3	O75437	ZN254_HUMAN			4	1618	+		all_cancers(12;0.086)|all_lung(12;0.00528)|Lung NSC(12;0.00731)|all_epithelial(12;0.0186)	501					A4QPC0|Q86XL7	Silent	SNP	ENST00000357002.4	37	c.1503A>G	CCDS32983.1																																																																																				0.403	ZNF254-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466453.1	NM_004876		4	77	0	0	0	1	0	4	77					G	24310305	A	G	24310305	2	3	248	1	0	0	0	0	0	0	0	1	17795	98	4	4		4	ZNF254	19	24310305	Silent	SNP	A	TCGA-HC-A6AS-01A-11D-A30E-08	11	24310305	34818678	35	11673			1	27		2	2	12	N	T_A	1.385795e-05
SLC7A9	11136	broad.mit.edu	37	chr19	33355594	33355594	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcagggccccacagcttccGtgttgctgagcacagacttg	7	8	13	13	1	0	2	0	1	0	1	1	2	1	2	3	2	3	5	3	2	0	3	rs146154087		TCGA-HC-A6AS-01A-11D-A30E-08	TCGA-HC-A6AS-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fb4b9c0-ff21-4077-8c20-0e3acc8d0b39	b4701be8-2c61-4a86-8220-6b3a3550b60e	g.chr19:33355594G>A	ENST00000023064.4	-	3	367	c.176C>T	c.(175-177)aCg>aTg	p.T59M	SLC7A9_ENST00000590341.1_Missense_Mutation_p.T59M|SLC7A9_ENST00000587772.1_Missense_Mutation_p.T59M|RN7SKP22_ENST00000365097.1_RNA	NM_001126335.1|NM_001243036.1|NM_014270.4	NP_001119807.1|NP_001229965.1|NP_055085.1	P82251	BAT1_HUMAN	solute carrier family 7 (amino acid transporter light chain, bo,+ system), member 9	59					amino acid transport (GO:0006865)|blood coagulation (GO:0007596)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|L-cystine transport (GO:0015811)|leukocyte migration (GO:0050900)|neutral amino acid transport (GO:0015804)|protein complex assembly (GO:0006461)|transmembrane transport (GO:0055085)|transport (GO:0006810)	brush border membrane (GO:0031526)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	amino acid transmembrane transporter activity (GO:0015171)|L-cystine transmembrane transporter activity (GO:0015184)|neutral amino acid transmembrane transporter activity (GO:0015175)|peptide antigen binding (GO:0042605)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	32	Esophageal squamous(110;0.137)				L-Cystine(DB00138)	CACAGCTTCCGTGTTGCTGAG	0.612													G|||	1	0.000199681	8e-04	0	5008	,	,		17483	0		0	False		,,,				2504	0				GBM(181;1335 2108 9644 44178 46689)	ENST00000023064.4																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	32						c.(175-177)aCg>aTg		solute carrier family 7 (amino acid transporter light chain, bo,+ system), member 9	L-Cystine(DB00138)	G	MET/THR,MET/THR	1,4405	2.1+/-5.4	0,1,2202	136	127	130		176,176	2.5	1	19	dbSNP_134	130	0,8600		0,0,4300	no	missense,missense	SLC7A9	NM_001126335.1,NM_014270.4	81,81	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign,benign	59/488,59/488	33355594	1,13005	2203	4300	6503	SO:0001583	missense	11136				blood coagulation|cellular amino acid metabolic process|ion transport|leukocyte migration|protein complex assembly	integral to plasma membrane	L-cystine transmembrane transporter activity|neutral amino acid transmembrane transporter activity|peptide antigen binding	g.chr19:33355594G>A	AF141289	CCDS12425.1	19q13.11	2013-07-19	2013-07-19		ENSG00000021488	ENSG00000021488		"Solute carriers"	11067	protein-coding gene	gene with protein product		604144		CSNU3		10471498	Standard	NM_014270		Approved		uc021usa.1	P82251	OTTHUMG00000180287	ENST00000023064.4:c.176C>T	19.37:g.33355594G>A	ENSP00000023064:p.Thr59Met					SLC7A9_ENST00000587772.1_Missense_Mutation_p.T59M|SLC7A9_ENST00000590341.1_Missense_Mutation_p.T59M	p.T59M	NM_001126335.1|NM_001243036.1|NM_014270.4	NP_001119807.1|NP_001229965.1|NP_055085.1	P82251	BAT1_HUMAN			3	367	-	Esophageal squamous(110;0.137)		59					B2R9A6	Missense_Mutation	SNP	ENST00000023064.4	37	c.176C>T	CCDS12425.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	12.31	1.901003	0.33535	2.27E-4	0.0	ENSG00000021488	ENST00000023064	D	0.90324	-2.65	5.13	2.47	0.30058	Amino acid permease domain (1);	0.361979	0.32703	N	0.005744	D	0.86091	0.5850	L	0.58583	1.82	0.46927	D	0.999259	B	0.25105	0.118	B	0.26202	0.067	T	0.81590	-0.0863	10	0.41790	T	0.15	.	6.5125	0.22230	0.3632:0.0:0.6368:0.0	.	59	P82251	BAT1_HUMAN	M	59	ENSP00000023064:T59M	ENSP00000023064:T59M	T	-	2	0	SLC7A9	38047434	0.997000	0.39634	0.996000	0.52242	0.887000	0.51463	2.775000	0.47702	1.196000	0.43129	0.462000	0.41574	ACG		0.612	SLC7A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450585.1			5	230	0	0	0	1	0	5	230					A	33355594	G	A	33355594	3	1	248	1	0	0	0	0	1	0	0	0	14705	1145	40	1	1331	1	SLC7A9	19	33355594	Missense_Mutation	SNP	G	TCGA-HC-A6AS-01A-11D-A30E-08	9045289	33355594	25773389	36	11674											
TMEM150B	284417	broad.mit.edu	37	chr19	55831946	55831946	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctgatgtagggaaagcctttActgaggtccacagtcctgtt	9	12	11	9	0	0	2	0	2	0	0	2	3	2	3	3	2	2	2	3	2	3	4			TCGA-HC-A6AS-01A-11D-A30E-08	TCGA-HC-A6AS-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fb4b9c0-ff21-4077-8c20-0e3acc8d0b39	b4701be8-2c61-4a86-8220-6b3a3550b60e	g.chr19:55831946A>G	ENST00000326652.4	-	4	290	c.108T>C	c.(106-108)agT>agC	p.S36S	TMEM150B_ENST00000438693.1_Silent_p.S36S	NM_001282011.1	NP_001268940.1	A6NC51	T150B_HUMAN	transmembrane protein 150B	36						integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(1)|lung(1)	3						GAAAGCCTTTACTGAGGTCCA	0.527																																						ENST00000326652.4																			0				endometrium(1)|large_intestine(1)|lung(1)	3						c.(106-108)agT>agC		transmembrane protein 150B							162	169	167					19																	55831946		2154	4272	6426	SO:0001819	synonymous_variant	284417					integral to membrane		g.chr19:55831946A>G	BC020862	CCDS42629.1	19q13.42	2009-06-12	2009-06-12	2009-06-12		ENSG00000180061			34415	protein-coding gene	gene with protein product			"transmembrane protein 224"	TMEM224			Standard	XM_005258812		Approved		uc010esw.1	A6NC51		ENST00000326652.4:c.108T>C	19.37:g.55831946A>G						TMEM150B_ENST00000438693.1_Silent_p.S36S	p.S36S			A6NC51	T150B_HUMAN			4	290	-			36					B7ZW71	Silent	SNP	ENST00000326652.4	37	c.108T>C	CCDS42629.1																																																																																				0.527	TMEM150B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452685.1	NM_001085488		5	171	0	0	0	1	0	5	171					G	55831946	A	G	55831946	2	3	248	1	0	0	0	0	0	0	0	1	16065	388	14	4		4	TMEM150B	19	55831946	Silent	SNP	A	TCGA-HC-A6AS-01A-11D-A30E-08	22476352	55831946	3297037	37	11675											
ZNF583	147949	broad.mit.edu	37	chr19	56935562	56935562	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atctcttactctacatcagaGaattcatactggagaaagac	15	11	6	9	0	4	3	2	0	2	3	5	5	4	3	0	1	3	0	0	1	5	4			TCGA-HC-A6AS-01A-11D-A30E-08	TCGA-HC-A6AS-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fb4b9c0-ff21-4077-8c20-0e3acc8d0b39	b4701be8-2c61-4a86-8220-6b3a3550b60e	g.chr19:56935562G>A	ENST00000333201.9	+	5	1745	c.1535G>A	c.(1534-1536)aGa>aAa	p.R512K	ZNF583_ENST00000585612.1_Intron|ZNF583_ENST00000291598.7_Missense_Mutation_p.R512K	NM_001159861.1|NM_152478.2	NP_001153333.1|NP_689691.2	Q96ND8	ZN583_HUMAN	zinc finger protein 583	512					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(2)|prostate(1)|skin(1)	26		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0564)		CTACATCAGAGAATTCATACT	0.388																																						ENST00000333201.9																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(2)|prostate(1)|skin(1)	26						c.(1534-1536)aGa>aAa		zinc finger protein 583							107	112	111					19																	56935562		2203	4300	6503	SO:0001583	missense	147949				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:56935562G>A	AK055592	CCDS12943.1	19q13.43	2013-09-20			ENSG00000198440	ENSG00000198440		"Zinc fingers, C2H2-type", "-"	26427	protein-coding gene	gene with protein product							Standard	NM_152478		Approved	FLJ31030	uc010ygl.1	Q96ND8	OTTHUMG00000168874	ENST00000333201.9:c.1535G>A	19.37:g.56935562G>A	ENSP00000388502:p.Arg512Lys					ZNF583_ENST00000291598.7_Missense_Mutation_p.R512K|ZNF583_ENST00000585612.1_Intron	p.R512K	NM_001159861.1|NM_152478.2	NP_001153333.1|NP_689691.2	Q96ND8	ZN583_HUMAN		GBM - Glioblastoma multiforme(193;0.0564)	5	1745	+		Colorectal(82;0.000256)|Ovarian(87;0.243)	512					O14850|Q2NKK3	Missense_Mutation	SNP	ENST00000333201.9	37	c.1535G>A	CCDS12943.1	.	.	.	.	.	.	.	.	.	.	G	17.13	3.310671	0.60414	.	.	ENSG00000198440	ENST00000291598;ENST00000333201	T;T	0.18338	2.22;2.22	4.65	1.34	0.21922	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.48767	D	0.000168	T	0.21761	0.0524	L	0.31120	0.905	0.24039	N	0.996081	D	0.71674	0.998	D	0.85130	0.997	T	0.03534	-1.1027	9	.	.	.	.	4.7202	0.12915	0.2468:0.0:0.592:0.1612	.	512	Q96ND8	ZN583_HUMAN	K	512	ENSP00000291598:R512K;ENSP00000388502:R512K	.	R	+	2	0	ZNF583	61627374	0.000000	0.05858	0.729000	0.30791	0.982000	0.71751	0.327000	0.19663	0.676000	0.31285	0.655000	0.94253	AGA		0.388	ZNF583-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401453.1	NM_152478		19	104	0	0	0	1	0	19	104					A	56935562	G	A	56935562	3	1	248	1	0	0	0	0	1	0	0	0	18012	942	33	3	1549	3	ZNF583	19	56935562	Missense_Mutation	SNP	G	TCGA-HC-A6AS-01A-11D-A30E-08	1103616	56935562	2193421	38	11676											
PCNT	5116	broad.mit.edu	37	chr21	47836289	47836289	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatagacgcgtgtgatgccAatacaaccccagggggtgta	11	7	12	11	2	0	2	0	1	0	1	0	2	0	2	4	2	3	1	4	2	5	3			TCGA-HC-A6AS-01A-11D-A30E-08	TCGA-HC-A6AS-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fb4b9c0-ff21-4077-8c20-0e3acc8d0b39	b4701be8-2c61-4a86-8220-6b3a3550b60e	g.chr21:47836289A>C	ENST00000359568.5	+	30	6564	c.6457A>C	c.(6457-6459)Aat>Cat	p.N2153H	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	2153					brain morphogenesis (GO:0048854)|cerebellar cortex morphogenesis (GO:0021696)|cilium assembly (GO:0042384)|G2/M transition of mitotic cell cycle (GO:0000086)|in utero embryonic development (GO:0001701)|limb morphogenesis (GO:0035108)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|neural precursor cell proliferation (GO:0061351)|neuron migration (GO:0001764)|olfactory bulb development (GO:0021772)|positive regulation of intracellular protein transport (GO:0090316)|spindle organization (GO:0007051)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intercellular bridge (GO:0045171)|membrane (GO:0016020)|microtubule (GO:0005874)|motile cilium (GO:0031514)|pericentriolar material (GO:0000242)				NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					GTGTGATGCCAATACAACCCC	0.443																																						ENST00000359568.5																			0				NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104						c.(6457-6459)Aat>Cat		pericentrin							90	97	95					21																	47836289		2203	4300	6503	SO:0001583	missense	5116				cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding	g.chr21:47836289A>C	AB007862	CCDS33592.1	21q22.3	2014-02-20	2008-01-30	2005-11-03	ENSG00000160299	ENSG00000160299			16068	protein-coding gene	gene with protein product	"kendrin", "Seckel syndrome 4"	605925	"pericentrin 2 (kendrin)"	PCNT2		8812505, 9455477	Standard	NM_006031		Approved	KEN, KIAA0402, PCN, PCNTB, SCKL4	uc002zji.4	O95613	OTTHUMG00000090665	ENST00000359568.5:c.6457A>C	21.37:g.47836289A>C	ENSP00000352572:p.Asn2153His					PCNT_ENST00000480896.1_3'UTR	p.N2153H	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN			30	6564	+	Breast(49;0.112)		2153					O43152|Q7Z7C9	Missense_Mutation	SNP	ENST00000359568.5	37	c.6457A>C	CCDS33592.1	.	.	.	.	.	.	.	.	.	.	A	9.477	1.097268	0.20552	.	.	ENSG00000160299	ENST00000359568	T	0.01495	4.83	0.853	-1.71	0.08133	.	.	.	.	.	T	0.01835	0.0058	N	0.08118	0	0.09310	N	1	D;P	0.54397	0.966;0.943	P;P	0.58721	0.844;0.703	T	0.48843	-0.8999	9	0.52906	T	0.07	.	2.1672	0.03840	0.5052:0.0:0.0:0.4948	.	2035;2153	O95613-2;O95613	.;PCNT_HUMAN	H	2153	ENSP00000352572:N2153H	ENSP00000352572:N2153H	N	+	1	0	PCNT	46660717	0.000000	0.05858	0.018000	0.16275	0.044000	0.14063	-0.953000	0.03877	0.103000	0.17682	0.102000	0.15555	AAT		0.443	PCNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207336.1	NM_006031		22	95	0	0	0	1	0	22	95					C	47836289	A	C	47836289	3	2	248	1	0	0	0	0	1	0	0	0	11590	130	5	5	6575	5	PCNT	21	47836289	Missense_Mutation	SNP	A	TCGA-HC-A6AS-01A-11D-A30E-08		47836289	293606	39	11677											
ESPN	83715	broad.mit.edu	37	chr1	6500486	6500486	+	Frame_Shift_Del	DEL	G	G	-																															cgcagatgggccacagcccaGtcatcgtgtggttggtgagc																										TCGA-HC-A6HX-01A-11D-A31L-08	TCGA-HC-A6HX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c58837d2-3931-4d77-87bd-24dbb7517c19	7c56bd41-657a-4710-a03e-7fd4e035847b	g.chr1:6500486delG	ENST00000377828.1	+	3	829	c.661delG	c.(661-663)gtcfs	p.V221fs	RP1-202O8.2_ENST00000419034.1_RNA	NM_031475.2	NP_113663.2	B1AK53	ESPN_HUMAN	espin	221					locomotory behavior (GO:0007626)|negative regulation of cytoskeleton organization (GO:0051494)|parallel actin filament bundle assembly (GO:0030046)|positive regulation of filopodium assembly (GO:0051491)|sensory perception of sound (GO:0007605)	brush border (GO:0005903)|cytoplasm (GO:0005737)|filamentous actin (GO:0031941)|microvillus (GO:0005902)|stereocilium bundle tip (GO:0032426)	actin filament binding (GO:0051015)|SH3 domain binding (GO:0017124)			NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(1)	17	Ovarian(185;0.0386)|all_lung(157;0.154)	all_cancers(23;3.6e-37)|all_epithelial(116;2.56e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|all_hematologic(16;6.92e-06)|Colorectal(325;4.47e-05)|Acute lymphoblastic leukemia(12;4.92e-05)|Breast(487;7.61e-05)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0392)		Epithelial(90;1.82e-35)|GBM - Glioblastoma multiforme(13;3e-28)|Kidney(185;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(229;5.63e-08)|Colorectal(212;7e-08)|COAD - Colon adenocarcinoma(227;1.41e-05)|BRCA - Breast invasive adenocarcinoma(365;0.000109)|STAD - Stomach adenocarcinoma(132;0.00167)|Lung(427;0.0108)|LUSC - Lung squamous cell carcinoma(448;0.0253)|READ - Rectum adenocarcinoma(331;0.0419)		CCACAGCCCAGTCATCGTGTG	0.756																																						ENST00000377828.1																			0				NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(1)	17						c.(661-663)tcfs		espin							5	6	5					1																	6500486		2053	3994	6047	SO:0001589	frameshift_variant	83715				sensory perception of sound	brush border|cytoplasm|filamentous actin|stereocilium	actin filament binding|SH3 domain binding	g.chr1:6500486delG	AF134401	CCDS70.1	1p36.31	2013-01-10			ENSG00000187017	ENSG00000187017		"Ankyrin repeat domain containing"	13281	protein-coding gene	gene with protein product		606351	"deafness, autosomal recessive 36"	DFNB36		10975527, 15286153	Standard	NM_031475		Approved		uc001amy.3	B1AK53	OTTHUMG00000000753	ENST00000377828.1:c.661delG	1.37:g.6500486delG	ENSP00000367059:p.Val221fs						p.V221fs	NM_031475.2	NP_113663.2	B1AK53	ESPN_HUMAN		Epithelial(90;1.82e-35)|GBM - Glioblastoma multiforme(13;3e-28)|Kidney(185;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(229;5.63e-08)|Colorectal(212;7e-08)|COAD - Colon adenocarcinoma(227;1.41e-05)|BRCA - Breast invasive adenocarcinoma(365;0.000109)|STAD - Stomach adenocarcinoma(132;0.00167)|Lung(427;0.0108)|LUSC - Lung squamous cell carcinoma(448;0.0253)|READ - Rectum adenocarcinoma(331;0.0419)	3	829	+	Ovarian(185;0.0386)|all_lung(157;0.154)	all_cancers(23;3.6e-37)|all_epithelial(116;2.56e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|all_hematologic(16;6.92e-06)|Colorectal(325;4.47e-05)|Acute lymphoblastic leukemia(12;4.92e-05)|Breast(487;7.61e-05)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0392)	221					Q6XYB2|Q9H0A2|Q9Y329	Frame_Shift_Del	DEL	ENST00000377828.1	37	c.661delG	CCDS70.1																																																																																				0.756	ESPN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001887.3	NM_031475		2	4						2	4	---	---	---	---	-	6500486	G	-	6500486	7	5	249	1	0	1	0	1	0	0	0	0	5254	1029	36	0	671	0	ESPN	1	6500486	Frame_Shift_Del	DEL	G	TCGA-HC-A6HX-01A-11D-A31L-08		6500486	242750135	1	11678											
AK5	26289	broad.mit.edu	37	chr1	77763264	77763264	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gtggtccaggaagtggaaagGgtactcagagtttgaaaatt	13	10	14	4	0	1	2	1	1	0	1	2	4	2	4	1	4	1	2	1	4	5	3			TCGA-HC-A6HX-01A-11D-A31L-08	TCGA-HC-A6HX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c58837d2-3931-4d77-87bd-24dbb7517c19	7c56bd41-657a-4710-a03e-7fd4e035847b	g.chr1:77763264G>C	ENST00000354567.2	+	4	699	c.436G>C	c.(436-438)Ggt>Cgt	p.G146R	AK5_ENST00000317704.4_3'UTR|AK5_ENST00000344720.5_Missense_Mutation_p.G120R	NM_174858.2	NP_777283.1	Q9Y6K8	KAD5_HUMAN	adenylate kinase 5	146	Adenylate kinase 1.				ADP biosynthetic process (GO:0006172)|ATP metabolic process (GO:0046034)|dADP biosynthetic process (GO:0006173)|nucleobase-containing small molecule interconversion (GO:0015949)|nucleobase-containing small molecule metabolic process (GO:0055086)|nucleoside diphosphate phosphorylation (GO:0006165)|nucleoside triphosphate biosynthetic process (GO:0009142)|pyrimidine ribonucleotide biosynthetic process (GO:0009220)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule organizing center (GO:0005815)	adenylate kinase activity (GO:0004017)|ATP binding (GO:0005524)|nucleoside diphosphate kinase activity (GO:0004550)|nucleoside kinase activity (GO:0019206)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|prostate(1)|skin(2)|stomach(1)	40						AAGTGGAAAGGGTACTCAGAG	0.388																																						ENST00000344720.5																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|prostate(1)|skin(2)|stomach(1)	40						c.(358-360)Ggt>Cgt		adenylate kinase 5							142	141	141					1																	77763264		2203	4300	6503	SO:0001583	missense	26289				ADP biosynthetic process|ATP metabolic process|dADP biosynthetic process|nucleobase, nucleoside and nucleotide interconversion|pyrimidine ribonucleotide biosynthetic process|signal transduction	centrosome|cytosol	adenylate kinase activity|ATP binding|cAMP-dependent protein kinase regulator activity|nucleoside kinase activity	g.chr1:77763264G>C	AF062595	CCDS675.1, CCDS676.1	1p31	2008-02-05			ENSG00000154027	ENSG00000154027		"Adenylate kinases"	365	protein-coding gene	gene with protein product		608009				10215863	Standard	NM_012093		Approved		uc001dhn.3	Q9Y6K8	OTTHUMG00000009796	ENST00000354567.2:c.436G>C	1.37:g.77763264G>C	ENSP00000346577:p.Gly146Arg					AK5_ENST00000354567.2_Missense_Mutation_p.G146R|AK5_ENST00000317704.4_3'UTR	p.G120R	NM_012093.3	NP_036225.2	Q9Y6K8	KAD5_HUMAN			4	1384	+			146					Q5U622|Q6FH66|Q7Z4T5|Q86YS0|Q8N464|Q96EC9	Missense_Mutation	SNP	ENST00000354567.2	37	c.358G>C	CCDS675.1	.	.	.	.	.	.	.	.	.	.	G	31	5.088815	0.94100	.	.	ENSG00000154027	ENST00000354567;ENST00000344720;ENST00000478407	D;D;T	0.90788	-2.73;-2.73;-1.18	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	D	0.96889	0.8984	H	0.94886	3.595	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.97187	0.9855	10	0.87932	D	0	-23.6695	20.0774	0.97750	0.0:0.0:1.0:0.0	.	146;122	Q9Y6K8;Q8N291	KAD5_HUMAN;.	R	146;120;120	ENSP00000346577:G146R;ENSP00000341430:G120R;ENSP00000434409:G120R	ENSP00000341430:G120R	G	+	1	0	AK5	77535852	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	9.406000	0.97321	2.828000	0.97474	0.650000	0.86243	GGT		0.388	AK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026993.4	NM_174858		17	101	0	0	0	1	0	17	101					C	77763264	G	C	77763264	3	2	249	1	0	0	0	0	1	0	0	0	443	1232	43	5	450	5	AK5	1	77763264	Missense_Mutation	SNP	G	TCGA-HC-A6HX-01A-11D-A31L-08	71262778	77763264	171487357	2	11679											
LPPR4	9890	broad.mit.edu	37	chr1	99772408	99772408	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcaccccagtagagggcagcGaaattggctcagagacgctg	11	6	13	11	2	2	2	2	0	0	2	2	4	2	2	2	2	1	4	2	2	2	2			TCGA-HC-A6HX-01A-11D-A31L-08	TCGA-HC-A6HX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c58837d2-3931-4d77-87bd-24dbb7517c19	7c56bd41-657a-4710-a03e-7fd4e035847b	g.chr1:99772408G>A	ENST00000370185.3	+	7	2631	c.2134G>A	c.(2134-2136)Gaa>Aaa	p.E712K	LPPR4_ENST00000457765.1_Missense_Mutation_p.E654K|LPPR4_ENST00000370184.1_Missense_Mutation_p.E554K	NM_014839.4	NP_055654.2	Q7Z2D5	LPPR4_HUMAN		712					axonogenesis (GO:0007409)|inner ear development (GO:0048839)|phospholipid dephosphorylation (GO:0046839)	integral component of plasma membrane (GO:0005887)	lipid phosphatase activity (GO:0042577)|phosphatidate phosphatase activity (GO:0008195)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(39)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	72		all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202)		Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22)		AGAGGGCAGCGAAATTGGCTC	0.522																																						ENST00000370185.3																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(39)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	72						c.(2134-2136)Gaa>Aaa									66	59	62					1																	99772408		2203	4300	6503	SO:0001583	missense	0						phosphatidate phosphatase activity	g.chr1:99772408G>A																												ENST00000370185.3:c.2134G>A	1.37:g.99772408G>A	ENSP00000359204:p.Glu712Lys					LPPR4_ENST00000370184.1_Missense_Mutation_p.E554K|LPPR4_ENST00000457765.1_Missense_Mutation_p.E654K	p.E712K	NM_014839.4	NP_055654.2	Q7Z2D5	LPPR4_HUMAN		Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22)	7	2631	+		all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202)	712					E7EPS1|O75043|Q5T9R9|Q86XQ5|Q8N3F1|Q96MP0	Missense_Mutation	SNP	ENST00000370185.3	37	c.2134G>A	CCDS757.1	.	.	.	.	.	.	.	.	.	.	G	16.60	3.169147	0.57584	.	.	ENSG00000117600	ENST00000370185;ENST00000457765;ENST00000370184	T;T;T	0.25085	2.39;2.39;1.82	6.02	6.02	0.97574	.	0.168251	0.52532	D	0.000074	T	0.31918	0.0812	L	0.44542	1.39	0.53688	D	0.999976	D;D	0.69078	0.997;0.993	P;B	0.58454	0.839;0.365	T	0.00300	-1.1835	9	.	.	.	-28.3061	20.5407	0.99260	0.0:0.0:1.0:0.0	.	654;712	E7EPS1;Q7Z2D5	.;LPPR4_HUMAN	K	712;654;554	ENSP00000359204:E712K;ENSP00000394913:E654K;ENSP00000359203:E554K	.	E	+	1	0	RP4-788L13.1	99544996	1.000000	0.71417	0.908000	0.35775	0.991000	0.79684	9.438000	0.97539	2.865000	0.98341	0.655000	0.94253	GAA		0.522	LPPR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029670.2			4	37	0	0	0	1	0	4	37					A	99772408	G	A	99772408	3	1	249	1	0	0	0	0	1	0	0	0	8927	1059	37	2	2160	2	LPPR4	1	99772408	Missense_Mutation	SNP	G	TCGA-HC-A6HX-01A-11D-A31L-08	22009144	99772408	149478213	3	11680											
RPTN	126638	broad.mit.edu	37	chr1	152128169	152128172	+	Frame_Shift_Del	DEL	TGTC	TGTC	-																															tgtagtgggaactctggcctTgtctgtctgtctgaccatag																										TCGA-HC-A6HX-01A-11D-A31L-08	TCGA-HC-A6HX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c58837d2-3931-4d77-87bd-24dbb7517c19	7c56bd41-657a-4710-a03e-7fd4e035847b	g.chr1:152128169_152128172delTGTC	ENST00000316073.3	-	3	1467_1470	c.1403_1406delGACA	c.(1402-1407)agacaafs	p.RQ468fs		NM_001122965.1	NP_001116437.1	Q6XPR3	RPTN_HUMAN	repetin	468	Gln-rich.					cornified envelope (GO:0001533)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						ACTCTGGCCTTGTCTGTCTGTCTG	0.5																																						ENST00000316073.3																			0				breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						c.(1402-1407)aafs		repetin																																				SO:0001589	frameshift_variant	126638					proteinaceous extracellular matrix	calcium ion binding	g.chr1:152128169_152128172delTGTC	AK096436	CCDS41397.1	1q21.3	2013-01-10			ENSG00000215853	ENSG00000215853		"EF-hand domain containing"	26809	protein-coding gene	gene with protein product		613259				15854042	Standard	NM_001122965		Approved	FLJ39117	uc001ezs.1	Q6XPR3	OTTHUMG00000154095	ENST00000316073.3:c.1403_1406delGACA	1.37:g.152128177_152128180delTGTC	ENSP00000317895:p.Arg468fs						p.RQ468fs	NM_001122965.1	NP_001116437.1	Q6XPR3	RPTN_HUMAN			3	1467_1470	-			468			Gln-rich.		B7ZBZ3	Frame_Shift_Del	DEL	ENST00000316073.3	37	c.1403_1406delGACA	CCDS41397.1																																																																																				0.5	RPTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333867.1	XM_371312		8	1029						8	1029	---	---	---	---	-	152128172	TGTC	-	152128169	7	5	249	1	0	1	0	1	0	0	0	0	13664	1812	63	0	952	0	RPTN	1	152128169	Frame_Shift_Del	DEL	TGTC	TCGA-HC-A6HX-01A-11D-A31L-08	52355761	152128169	97122452	4	11681											
RAF1	5894	broad.mit.edu	37	chr3	12632413	12632413	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgcaccactgggtcacaatTgccaggttgtcctttgtcat	7	13	9	12	1	2	0	2	0	0	0	4	0	3	0	3	2	1	2	3	2	1	3			TCGA-HC-A6HX-01A-11D-A31L-08	TCGA-HC-A6HX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c58837d2-3931-4d77-87bd-24dbb7517c19	7c56bd41-657a-4710-a03e-7fd4e035847b	g.chr3:12632413T>G	ENST00000251849.4	-	12	1693	c.1254A>C	c.(1252-1254)gcA>gcC	p.A418A	RAF1_ENST00000442415.2_Silent_p.A438A|RAF1_ENST00000542177.1_Silent_p.A337A|RAF1_ENST00000534997.1_Silent_p.A203A	NM_002880.3	NP_002871.1	P04049	RAF1_HUMAN	Raf-1 proto-oncogene, serine/threonine kinase	418	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of adenylate cyclase activity (GO:0007190)|activation of MAPKK activity (GO:0000186)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell proliferation (GO:0008283)|death-inducing signaling complex assembly (GO:0071550)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|intermediate filament cytoskeleton organization (GO:0045104)|ion transmembrane transport (GO:0034220)|MAPK cascade (GO:0000165)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of protein complex assembly (GO:0031333)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein phosphorylation (GO:0006468)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of cell differentiation (GO:0045595)|regulation of cell motility (GO:2000145)|regulation of Rho protein signal transduction (GO:0035023)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|mitochondrial outer membrane (GO:0005741)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|pseudopodium (GO:0031143)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)		ESRP1/RAF1(4)|RAF1/DAZL(2)|SRGAP3/RAF1(6)	biliary_tract(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)	32					Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)	GGGTCACAATTGCCAGGTTGT	0.532			T	SRGAP3	pilocytic astrocytoma				Noonan syndrome																													ENST00000251849.4				Dom	yes		3	3p25	5894	T	v-raf-1 murine leukemia viral oncogene homolog 1			M	SRGAP3		pilocytic astrocytoma	ESRP1/RAF1(4)|RAF1/DAZL(2)|SRGAP3/RAF1(6)	0				biliary_tract(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)	32						c.(1252-1254)gcA>gcC		v-raf-1 murine leukemia viral oncogene homolog 1	Sorafenib(DB00398)						141	130	134					3																	12632413		2203	4300	6503	SO:0001819	synonymous_variant	5894	Noonan syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome	activation of MAPKK activity|apoptosis|axon guidance|cell proliferation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|negative regulation of apoptosis|negative regulation of cell proliferation|negative regulation of protein complex assembly|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of peptidyl-serine phosphorylation|Ras protein signal transduction|synaptic transmission	cytosol|mitochondrial outer membrane|plasma membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|receptor signaling protein activity	g.chr3:12632413T>G	X03484	CCDS2612.1	3p25	2014-09-17	2014-06-26		ENSG00000132155	ENSG00000132155			9829	protein-coding gene	gene with protein product	"C-Raf proto-oncogene, serine/threonine kinase"	164760	"v-raf-1 murine leukemia viral oncogene homolog 1"			1611909	Standard	NM_002880		Approved	Raf-1, c-Raf, CRAF	uc003bxf.4	P04049	OTTHUMG00000129789	ENST00000251849.4:c.1254A>C	3.37:g.12632413T>G						RAF1_ENST00000534997.1_Silent_p.A203A|RAF1_ENST00000442415.2_Silent_p.A438A|RAF1_ENST00000542177.1_Silent_p.A337A	p.A418A	NM_002880.3	NP_002871.1	P04049	RAF1_HUMAN			12	1693	-			418			Protein kinase.		B0LPH8|B2R5N3|Q15278|Q9UC20	Silent	SNP	ENST00000251849.4	37	c.1254A>C	CCDS2612.1																																																																																				0.532	RAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252015.2	NM_002880		11	99	0	0	0	1	0	11	99					G	12632413	T	G	12632413	2	3	249	1	0	0	0	0	0	0	0	1	13002	1799	63	5		5	RAF1	3	12632413	Silent	SNP	T	TCGA-HC-A6HX-01A-11D-A31L-08		12632413	185390017	5	11682											
PDZRN3	23024	broad.mit.edu	37	chr3	73450103	73450103	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agctcctccctgtccatctcCtgatggatgtctccaatgta	7	13	7	14	0	2	1	0	1	2	0	7	2	5	2	5	1	1	2	5	1	2	1			TCGA-HC-A6HX-01A-11D-A31L-08	TCGA-HC-A6HX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c58837d2-3931-4d77-87bd-24dbb7517c19	7c56bd41-657a-4710-a03e-7fd4e035847b	g.chr3:73450103C>T	ENST00000263666.4	-	5	1338	c.1224G>A	c.(1222-1224)caG>caA	p.Q408Q	PDZRN3_ENST00000479530.1_Silent_p.Q125Q|PDZRN3_ENST00000462146.2_Silent_p.Q65Q|PDZRN3_ENST00000466780.1_Silent_p.Q65Q|PDZRN3_ENST00000535920.1_Silent_p.Q130Q|PDZRN3_ENST00000466348.1_5'UTR	NM_015009.1	NP_055824.1	Q9UPQ7	PZRN3_HUMAN	PDZ domain containing ring finger 3	408					neuromuscular junction development (GO:0007528)|protein ubiquitination (GO:0016567)	neuromuscular junction (GO:0031594)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)		TGTCCATCTCCTGATGGATGT	0.438																																						ENST00000263666.4																			0				breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69						c.(1222-1224)caG>caA		PDZ domain containing ring finger 3							181	177	178					3																	73450103		2203	4300	6503	SO:0001819	synonymous_variant	23024						ubiquitin-protein ligase activity|zinc ion binding	g.chr3:73450103C>T	AB029018	CCDS33789.1	3p14.1	2013-01-09	2008-08-14		ENSG00000121440	ENSG00000121440		"RING-type (C3HC4) zinc fingers"	17704	protein-coding gene	gene with protein product	"likely ortholog of mouse semaF cytoplasmic domain associated protein 3"	609729				10470851	Standard	XM_005264718		Approved	KIAA1095, SEMACAP3, LNX3	uc003dpl.1	Q9UPQ7	OTTHUMG00000158865	ENST00000263666.4:c.1224G>A	3.37:g.73450103C>T						PDZRN3_ENST00000535920.1_Silent_p.Q130Q|PDZRN3_ENST00000479530.1_Silent_p.Q125Q|PDZRN3_ENST00000466780.1_Silent_p.Q65Q|PDZRN3_ENST00000462146.2_Silent_p.Q65Q|PDZRN3_ENST00000466348.1_5'UTR	p.Q408Q	NM_015009.1	NP_055824.1	Q9UPQ7	PZRN3_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)	5	1338	-		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)	408					A7MCZ6|Q8N2N7|Q96CC2|Q9NSQ2	Silent	SNP	ENST00000263666.4	37	c.1224G>A	CCDS33789.1	.	.	.	.	.	.	.	.	.	.	C	9.604	1.129512	0.21041	.	.	ENSG00000121440	ENST00000494559	.	.	.	5.38	4.5	0.54988	.	.	.	.	.	T	0.48857	0.1523	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.47142	-0.9140	4	.	.	.	.	4.4649	0.11684	0.0:0.6179:0.2099:0.1722	.	.	.	.	K	5	.	.	R	-	2	0	PDZRN3	73532793	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.472000	0.35376	2.520000	0.84964	0.555000	0.69702	AGG		0.438	PDZRN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352460.1	XM_041363		14	98	0	0	0	1	0	14	98					T	73450103	C	T	73450103	2	4	249	1	0	0	0	0	0	0	0	1	11709	680	24	3		3	PDZRN3	3	73450103	Silent	SNP	C	TCGA-HC-A6HX-01A-11D-A31L-08	60817690	73450103	124572327	6	11683											
ADAMTS3	9508	broad.mit.edu	37	chr4	73205333	73205333	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctcccgcgtgtctgcggcGtctcattgtttcattcagct	3	16	9	13	4	5	0	3	0	3	0	7	0	5	0	1	1	2	2	1	1	0	4			TCGA-HC-A6HX-01A-11D-A31L-08	TCGA-HC-A6HX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c58837d2-3931-4d77-87bd-24dbb7517c19	7c56bd41-657a-4710-a03e-7fd4e035847b	g.chr4:73205333G>A	ENST00000286657.4	-	5	775	c.739C>T	c.(739-741)Cgc>Tgc	p.R247C		NM_014243.2	NP_055058.2	O15072	ATS3_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 3	247	Poly-Arg.				collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular fibril organization (GO:0043206)|extracellular matrix organization (GO:0030198)|positive regulation of vascular endothelial growth factor signaling pathway (GO:1900748)|protein processing (GO:0016485)|vascular endothelial growth factor production (GO:0010573)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	endopeptidase activity (GO:0004175)|heparin binding (GO:0008201)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.R247C(1)		NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	76			Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			TGTCTGCGGCGTCTCATTGTT	0.483																																					NSCLC(168;1941 2048 2918 13048 43078)	ENST00000286657.4																			1	Substitution - Missense(1)	p.R247C(1)	large_intestine(1)	NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	76						c.(739-741)Cgc>Tgc		ADAM metallopeptidase with thrombospondin type 1 motif, 3							244	235	238					4																	73205333		2203	4300	6503	SO:0001583	missense	9508				collagen catabolic process|collagen fibril organization|proteolysis	proteinaceous extracellular matrix	heparin binding|metalloendopeptidase activity|zinc ion binding	g.chr4:73205333G>A	AB002364	CCDS3553.1	4q21	2008-07-29	2005-08-19		ENSG00000156140	ENSG00000156140	3.4.24.-	"ADAM metallopeptidases with thrombospondin type 1 motif"	219	protein-coding gene	gene with protein product		605011	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 3"			10094461	Standard	NM_014243		Approved	KIAA0366, ADAMTS-4	uc003hgk.2	O15072	OTTHUMG00000129912	ENST00000286657.4:c.739C>T	4.37:g.73205333G>A	ENSP00000286657:p.Arg247Cys						p.R247C	NM_014243.2	NP_055058.2	O15072	ATS3_HUMAN	Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		5	775	-			247			Poly-Arg.		A1L3U9|Q9BXZ8	Missense_Mutation	SNP	ENST00000286657.4	37	c.739C>T	CCDS3553.1	.	.	.	.	.	.	.	.	.	.	G	13.95	2.389077	0.42410	.	.	ENSG00000156140	ENST00000286657	T	0.63913	-0.07	5.31	5.31	0.75309	.	0.215894	0.35838	N	0.002943	T	0.71962	0.3402	M	0.66939	2.045	0.50039	D	0.999845	D	0.61080	0.989	P	0.51701	0.677	T	0.75465	-0.3308	10	0.72032	D	0.01	.	19.1722	0.93583	0.0:0.0:1.0:0.0	.	247	O15072	ATS3_HUMAN	C	247	ENSP00000286657:R247C	ENSP00000286657:R247C	R	-	1	0	ADAMTS3	73424197	0.691000	0.27709	0.337000	0.25536	0.022000	0.10575	4.078000	0.57606	2.763000	0.94921	0.563000	0.77884	CGC		0.483	ADAMTS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252164.2			24	197	0	0	0	1	0	24	197					A	73205333	G	A	73205333	3	1	249	1	0	0	0	0	1	0	0	0	267	1145	40	1	2950	1	ADAMTS3	4	73205333	Missense_Mutation	SNP	G	TCGA-HC-A6HX-01A-11D-A31L-08		73205333	117948943	7	11684											
SPARCL1	8404	broad.mit.edu	37	chr4	88403694	88403694	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaactgaatcacttcaaagTccgtacaagtaggaatagct	16	9	8	8	1	2	1	2	1	0	0	3	3	3	2	1	1	3	3	1	1	8	4			TCGA-HC-A6HX-01A-11D-A31L-08	TCGA-HC-A6HX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c58837d2-3931-4d77-87bd-24dbb7517c19	7c56bd41-657a-4710-a03e-7fd4e035847b	g.chr4:88403694T>C	ENST00000282470.6	-	8	2020	c.1550A>G	c.(1549-1551)gAc>gGc	p.D517G	SPARCL1_ENST00000418378.1_Missense_Mutation_p.D517G|SPARCL1_ENST00000503414.1_Missense_Mutation_p.D392G	NM_004684.4	NP_004675.3	Q14515	SPRL1_HUMAN	SPARC-like 1 (hevin)	517					signal transduction (GO:0007165)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(2)|stomach(2)	21				OV - Ovarian serous cystadenocarcinoma(123;0.00118)		CACTTCAAAGTCCGTACAAGT	0.408																																						ENST00000418378.1																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(2)|stomach(2)	21						c.(1549-1551)gAc>gGc		SPARC-like 1 (hevin)							91	85	87					4																	88403694		2203	4300	6503	SO:0001583	missense	8404				signal transduction	extracellular space|proteinaceous extracellular matrix	calcium ion binding	g.chr4:88403694T>C	X86693	CCDS3622.1	4q22-q25	2013-01-10	2008-08-29		ENSG00000152583	ENSG00000152583		"EF-hand domain containing"	11220	protein-coding gene	gene with protein product		606041	"SPARC-like 1 (mast9, hevin)"			8488563, 7600298, 16844696	Standard	NM_001128310		Approved	MAST9	uc003hqs.4	Q14515	OTTHUMG00000130605	ENST00000282470.6:c.1550A>G	4.37:g.88403694T>C	ENSP00000282470:p.Asp517Gly					SPARCL1_ENST00000282470.6_Missense_Mutation_p.D517G|SPARCL1_ENST00000503414.1_Missense_Mutation_p.D392G	p.D517G	NM_001128310.1	NP_001121782.1	Q14515	SPRL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.00118)	9	2121	-			517					B4E2Z0|E7ESU2|Q14800	Missense_Mutation	SNP	ENST00000282470.6	37	c.1550A>G	CCDS3622.1	.	.	.	.	.	.	.	.	.	.	T	22.2	4.253597	0.80135	.	.	ENSG00000152583	ENST00000282470;ENST00000418378;ENST00000438050;ENST00000503414	T;T;T	0.26067	2.34;2.34;1.76	5.51	5.51	0.81932	SPARC/Testican, calcium-binding domain (1);EF-hand-like domain (1);	0.149257	0.64402	D	0.000013	T	0.48624	0.1510	M	0.62266	1.93	0.58432	D	0.999996	D	0.89917	1.0	D	0.80764	0.994	T	0.47774	-0.9091	10	0.62326	D	0.03	-25.2107	15.1055	0.72319	0.0:0.0:0.0:1.0	.	517	Q14515	SPRL1_HUMAN	G	517;517;392;392	ENSP00000282470:D517G;ENSP00000414856:D517G;ENSP00000422903:D392G	ENSP00000282470:D517G	D	-	2	0	SPARCL1	88622718	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	7.617000	0.83032	2.225000	0.72522	0.533000	0.62120	GAC		0.408	SPARCL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253059.2			7	38	0	0	0	1	0	7	38					C	88403694	T	C	88403694	3	2	249	1	0	0	0	0	1	0	0	0	14995	1667	58	4	460	4	SPARCL1	4	88403694	Missense_Mutation	SNP	T	TCGA-HC-A6HX-01A-11D-A31L-08	15198361	88403694	102750582	8	11685											
NEK1	4750	broad.mit.edu	37	chr4	170482702	170482702	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cctggccctatttattctttCcaactttggggaaaagaaat	11	14	7	9	0	1	1	0	0	1	1	2	2	2	2	3	3	1	0	3	3	6	6			TCGA-HC-A6HX-01A-11D-A31L-08	TCGA-HC-A6HX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c58837d2-3931-4d77-87bd-24dbb7517c19	7c56bd41-657a-4710-a03e-7fd4e035847b	g.chr4:170482702C>A	ENST00000439128.2	-	15	1835	c.1195G>T	c.(1195-1197)Gaa>Taa	p.E399*	NEK1_ENST00000511633.1_Nonsense_Mutation_p.E399*|NEK1_ENST00000507142.1_Nonsense_Mutation_p.E399*|NEK1_ENST00000510533.1_Nonsense_Mutation_p.E399*|NEK1_ENST00000512193.1_Intron	NM_012224.2	NP_036356.1	Q96PY6	NEK1_HUMAN	NIMA-related kinase 1	399					cellular response to DNA damage stimulus (GO:0006974)|cilium assembly (GO:0042384)|mitotic nuclear division (GO:0007067)|response to ionizing radiation (GO:0010212)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|pericentriolar material (GO:0000242)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)			NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|stomach(1)	45		Prostate(90;0.00601)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0287)|KIRC - Kidney renal clear cell carcinoma(143;0.0325)|Kidney(143;0.0385)|LUSC - Lung squamous cell carcinoma(193;0.14)		TTTATTCTTTCCAACTTTGGG	0.333																																						ENST00000439128.2																			0				NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|stomach(1)	45						c.(1195-1197)Gaa>Taa		NIMA-related kinase 1							118	109	112					4																	170482702		1852	4087	5939	SO:0001587	stop_gained	4750				cell division|cilium assembly|mitosis	nucleus|pericentriolar material	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr4:170482702C>A	AB067488	CCDS47162.1, CCDS56348.1, CCDS56349.1, CCDS56350.1, CCDS56351.1	4q32.3	2012-11-15	2012-11-15		ENSG00000137601	ENSG00000137601			7744	protein-coding gene	gene with protein product		604588	"NIMA (never in mitosis gene a)-related kinase 1"			1382974, 8274451	Standard	NM_012224		Approved	NY-REN-55, KIAA1901	uc003isd.2	Q96PY6	OTTHUMG00000160963	ENST00000439128.2:c.1195G>T	4.37:g.170482702C>A	ENSP00000408020:p.Glu399*					NEK1_ENST00000507142.1_Nonsense_Mutation_p.E399*|NEK1_ENST00000512193.1_Intron|NEK1_ENST00000510533.1_Nonsense_Mutation_p.E399*|NEK1_ENST00000511633.1_Nonsense_Mutation_p.E399*	p.E399*	NM_012224.2	NP_036356.1	Q96PY6	NEK1_HUMAN		GBM - Glioblastoma multiforme(119;0.0287)|KIRC - Kidney renal clear cell carcinoma(143;0.0325)|Kidney(143;0.0385)|LUSC - Lung squamous cell carcinoma(193;0.14)	15	1835	-		Prostate(90;0.00601)|Renal(120;0.0183)	399					G5E9Z3|Q05DG5|Q14CB7|Q5H9T1|Q6PIB8|Q96SS2|Q9H6P7|Q9Y594	Nonsense_Mutation	SNP	ENST00000439128.2	37	c.1195G>T	CCDS47162.1	.	.	.	.	.	.	.	.	.	.	C	41	9.046407	0.99048	.	.	ENSG00000137601	ENST00000439128;ENST00000511633;ENST00000510533;ENST00000507142	.	.	.	5.41	5.41	0.78517	.	0.000000	0.64402	D	0.000005	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.44086	T	0.13	.	19.1923	0.93672	0.0:1.0:0.0:0.0	.	.	.	.	X	399	.	ENSP00000408020:E399X	E	-	1	0	NEK1	170719277	1.000000	0.71417	1.000000	0.80357	0.568000	0.35870	3.444000	0.52914	2.537000	0.85549	0.557000	0.71058	GAA		0.333	NEK1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000363157.3			6	43	1	0	0.00198382	1	0.00209403	6	43					A	170482702	C	A	170482702	4	1	249	1	0	0	0	0	0	1	0	0	10321	864	30	5	2661	5	NEK1	4	170482702	Nonsense_Mutation	SNP	C	TCGA-HC-A6HX-01A-11D-A31L-08	82079008	170482702	20671574	9	11686											
GPLD1	2822	broad.mit.edu	37	chr6	24446015	24446015	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ggaagtagccatacaccctcCcaaggctctttttctcatct	9	12	6	14	0	3	0	1	0	3	0	5	1	4	1	3	2	2	2	3	2	4	4			TCGA-HC-A6HX-01A-11D-A31L-08	TCGA-HC-A6HX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c58837d2-3931-4d77-87bd-24dbb7517c19	7c56bd41-657a-4710-a03e-7fd4e035847b	g.chr6:24446015C>T	ENST00000230036.1	-	19	1975	c.1865G>A	c.(1864-1866)gGg>gAg	p.G622E		NM_001503.3	NP_001494.2	P80108	PHLD_HUMAN	glycosylphosphatidylinositol specific phospholipase D1	622					cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to calcium ion (GO:0071277)|cellular response to cholesterol (GO:0071397)|cellular response to drug (GO:0035690)|cellular response to insulin stimulus (GO:0032869)|cellular response to pH (GO:0071467)|cellular response to triglyceride (GO:0071401)|chondrocyte differentiation (GO:0002062)|complement receptor mediated signaling pathway (GO:0002430)|GPI anchor release (GO:0006507)|hematopoietic stem cell migration (GO:0035701)|hematopoietic stem cell migration to bone marrow (GO:0097241)|insulin receptor signaling pathway (GO:0008286)|negative regulation of cell proliferation (GO:0008285)|negative regulation of triglyceride catabolic process (GO:0010897)|ossification (GO:0001503)|phosphatidylcholine metabolic process (GO:0046470)|positive regulation of alkaline phosphatase activity (GO:0010694)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cytolysis (GO:0045919)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of glucose metabolic process (GO:0010907)|positive regulation of high-density lipoprotein particle clearance (GO:0010983)|positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0035774)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|positive regulation of secretion (GO:0051047)|positive regulation of triglyceride biosynthetic process (GO:0010867)|regulation of cellular response to insulin stimulus (GO:1900076)|response to glucose (GO:0009749)|transepithelial transport (GO:0070633)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal membrane (GO:0005765)|proteinaceous extracellular matrix (GO:0005578)	glycosylphosphatidylinositol phospholipase D activity (GO:0004621)|phospholipase D activity (GO:0004630)|sodium channel regulator activity (GO:0017080)			breast(3)|endometrium(5)|kidney(1)|large_intestine(11)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	32						ATACACCCTCCCAAGGCTCTT	0.537																																						ENST00000230036.1																			0				breast(3)|endometrium(5)|kidney(1)|large_intestine(11)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	32						c.(1864-1866)gGg>gAg		glycosylphosphatidylinositol specific phospholipase D1							139	137	138					6																	24446015		2203	4300	6503	SO:0001583	missense	2822					extracellular region	glycosylphosphatidylinositol phospholipase D activity	g.chr6:24446015C>T	L11701	CCDS4553.1	6p22.1	2008-02-05			ENSG00000112293	ENSG00000112293			4459	protein-coding gene	gene with protein product		602515				11072085	Standard	NM_001503		Approved		uc003ned.2	P80108	OTTHUMG00000016104	ENST00000230036.1:c.1865G>A	6.37:g.24446015C>T	ENSP00000230036:p.Gly622Glu						p.G622E	NM_001503.3	NP_001494.2	P80108	PHLD_HUMAN			19	1975	-			622					Q15127|Q15128|Q2M2F2|Q5T3Y0|Q7Z6T8|Q8TCV0|Q8WW82|Q96ID6|Q9H167|Q9H4M1|Q9UJC9	Missense_Mutation	SNP	ENST00000230036.1	37	c.1865G>A	CCDS4553.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.235838	0.79800	.	.	ENSG00000112293	ENST00000230036	T	0.78481	-1.18	5.49	5.49	0.81192	.	0.000000	0.64402	D	0.000002	D	0.88194	0.6371	M	0.87456	2.885	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.87133	0.2198	10	0.38643	T	0.18	-19.0184	18.9919	0.92796	0.0:1.0:0.0:0.0	.	622	P80108	PHLD_HUMAN	E	622	ENSP00000230036:G622E	ENSP00000230036:G622E	G	-	2	0	GPLD1	24553994	0.999000	0.42202	0.171000	0.22900	0.910000	0.53928	5.212000	0.65225	2.565000	0.86533	0.655000	0.94253	GGG		0.537	GPLD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043315.1	NM_001503		8	103	0	0	0	1	0	8	103					T	24446015	C	T	24446015	3	4	249	1	0	0	0	0	1	0	0	0	6614	623	22	3	685	3	GPLD1	6	24446015	Missense_Mutation	SNP	C	TCGA-HC-A6HX-01A-11D-A31L-08		24446015	146669052	10	11687											
OR4C13	283092	broad.mit.edu	37	chr11	49974801	49974801	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgctgtattctacactatgaTaacttctatgttaaacccct	11	16	4	10	0	2	1	0	1	2	0	2	1	2	1	2	0	4	3	2	0	7	8			TCGA-HC-A6HX-01A-11D-A31L-08	TCGA-HC-A6HX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c58837d2-3931-4d77-87bd-24dbb7517c19	7c56bd41-657a-4710-a03e-7fd4e035847b	g.chr11:49974801T>A	ENST00000555099.1	+	1	859	c.827T>A	c.(826-828)aTa>aAa	p.I276K		NM_001001955.2	NP_001001955.2	Q8NGP0	OR4CD_HUMAN	olfactory receptor, family 4, subfamily C, member 13	276						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	43						TACACTATGATAACTTCTATG	0.358																																						ENST00000555099.1																			0				autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	43						c.(826-828)aTa>aAa		olfactory receptor, family 4, subfamily C, member 13							105	101	102					11																	49974801		2201	4296	6497	SO:0001583	missense	283092				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:49974801T>A	AB065750	CCDS31495.1	11p11.12	2012-10-03			ENSG00000258817	ENSG00000258817		"GPCR / Class A : Olfactory receptors"	15169	protein-coding gene	gene with protein product							Standard	NM_001001955		Approved		uc010rhz.2	Q8NGP0	OTTHUMG00000166686	ENST00000555099.1:c.827T>A	11.37:g.49974801T>A	ENSP00000452277:p.Ile276Lys						p.I276K	NM_001001955.2	NP_001001955.2	Q8NGP0	OR4CD_HUMAN			1	859	+			276					A6NJJ3|B9EH30|Q6IF48|Q96R68	Missense_Mutation	SNP	ENST00000555099.1	37	c.827T>A	CCDS31495.1	.	.	.	.	.	.	.	.	.	.	.	11.96	1.794600	0.31777	.	.	ENSG00000258817	ENST00000555099	T	0.00216	8.53	2.77	2.77	0.32553	GPCR, rhodopsin-like superfamily (1);	0.000000	0.51477	D	0.000084	T	0.00552	0.0018	M	0.90369	3.11	0.22811	N	0.998705	P	0.48764	0.915	D	0.63283	0.913	T	0.13953	-1.0490	9	.	.	.	.	9.0083	0.36127	0.0:0.0:0.0:1.0	.	276	Q8NGP0	OR4CD_HUMAN	K	276	ENSP00000452277:I276K	.	I	+	2	0	OR4C13	49931377	0.219000	0.23619	0.833000	0.33012	0.079000	0.17450	3.455000	0.52993	1.274000	0.44362	0.156000	0.16432	ATA		0.358	OR4C13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391103.1	NM_001001955		8	69	0	0	0	1	0	8	69					A	49974801	T	A	49974801	3	1	249	1	0	0	0	0	1	0	0	0	11047	1406	49	5	829	5	OR4C13	11	49974801	Missense_Mutation	SNP	T	TCGA-HC-A6HX-01A-11D-A31L-08		49974801	85031715	11	11688											
OR8S1	341568	broad.mit.edu	37	chr12	48920026	48920026	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gccttgctctgctccactctCctacatgggctgggaaactt	6	12	9	14	0	2	0	0	0	2	0	4	1	3	1	3	2	4	3	3	2	2	3			TCGA-HC-A6HX-01A-11D-A31L-08	TCGA-HC-A6HX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c58837d2-3931-4d77-87bd-24dbb7517c19	7c56bd41-657a-4710-a03e-7fd4e035847b	g.chr12:48920026C>T	ENST00000310194.1	+	1	612	c.612C>T	c.(610-612)ctC>ctT	p.L204L	OR8S1_ENST00000551654.1_Intron	NM_001005203.2	NP_001005203.2	Q8NH09	OR8S1_HUMAN	olfactory receptor, family 8, subfamily S, member 1	204						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|skin(4)	22						GCTCCACTCTCCTACATGGGC	0.507																																						ENST00000310194.1																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|skin(4)	22						c.(610-612)ctC>ctT		olfactory receptor, family 8, subfamily S, member 1							185	148	161					12																	48920026		2203	4300	6503	SO:0001819	synonymous_variant	341568				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr12:48920026C>T		CCDS31789.1	12q13.2	2012-08-09				ENSG00000197376		"GPCR / Class A : Olfactory receptors"	19628	protein-coding gene	gene with protein product							Standard	NM_001005203		Approved		uc010slu.2	Q8NH09		ENST00000310194.1:c.612C>T	12.37:g.48920026C>T						OR8S1_ENST00000551654.1_Intron	p.L204L	NM_001005203.2	NP_001005203.2	Q8NH09	OR8S1_HUMAN			1	612	+			204						Silent	SNP	ENST00000310194.1	37	c.612C>T	CCDS31789.1																																																																																				0.507	OR8S1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406881.1			8	67	0	0	0	1	0	8	67					T	48920026	C	T	48920026	2	4	249	1	0	0	0	0	0	0	0	1	11246	842	30	3		3	OR8S1	12	48920026	Silent	SNP	C	TCGA-HC-A6HX-01A-11D-A31L-08		48920026	84931869	12	11689											
SELPLG	6404	broad.mit.edu	37	chr12	109017473	109017473	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttccatggctgctggtgcaGtggtctgtgcctccatggct	3	13	13	12	0	1	0	0	0	1	0	3	0	3	0	3	4	3	4	3	4	0	1			TCGA-HC-A6HX-01A-11D-A31L-08	TCGA-HC-A6HX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c58837d2-3931-4d77-87bd-24dbb7517c19	7c56bd41-657a-4710-a03e-7fd4e035847b	g.chr12:109017473G>A	ENST00000550948.1	-	2	835	c.611C>T	c.(610-612)aCt>aTt	p.T204I	SELPLG_ENST00000388962.3_Missense_Mutation_p.T194I|SELPLG_ENST00000228463.6_Missense_Mutation_p.T220I			Q14242	SELPL_HUMAN	selectin P ligand	204	12 X 10 AA tandem repeats.				blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cellular response to interleukin-6 (GO:0071354)|leukocyte adhesive activation (GO:0050902)|leukocyte migration (GO:0050900)|leukocyte tethering or rolling (GO:0050901)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|prostate(3)|skin(1)	12						TGCTGGTGCAGTGGTCTGTGC	0.612																																						ENST00000388962.3																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|prostate(3)|skin(1)	12						c.(580-582)aCt>aTt		selectin P ligand							160	145	150					12																	109017473		2203	4300	6503	SO:0001583	missense	0				blood coagulation|cellular response to interleukin-6	integral to plasma membrane|membrane fraction	bacterial cell surface binding|receptor binding	g.chr12:109017473G>A		CCDS31895.1, CCDS31895.2, CCDS55881.1	12q24	2014-01-30						"CD molecules", "Endogenous ligands"	10722	protein-coding gene	gene with protein product		600738				7505206	Standard	NM_003006		Approved	PSGL-1, CD162	uc010sxe.2	Q14242		ENST00000550948.1:c.611C>T	12.37:g.109017473G>A	ENSP00000447752:p.Thr204Ile					SELPLG_ENST00000228463.6_Missense_Mutation_p.T220I|SELPLG_ENST00000550948.1_Missense_Mutation_p.T204I	p.T194I	NM_003006.4	NP_002997.2	Q14242	SELPL_HUMAN			3	740	-			204			12 X 10 AA tandem repeats.		A8K2Y0|B4DQC3|B7Z5C7|J3KMX6|Q12775|Q6GTW7|Q8N7J7	Missense_Mutation	SNP	ENST00000550948.1	37	c.581C>T	CCDS31895.2	.	.	.	.	.	.	.	.	.	.	G	10.49	1.365891	0.24684	.	.	ENSG00000110876	ENST00000388962;ENST00000550948;ENST00000228463	T;T;T	0.32988	1.43;1.43;1.43	3.11	1.25	0.21368	.	0.809196	0.10424	N	0.676276	T	0.29061	0.0722	L	0.60455	1.87	0.09310	N	1	P;P;P	0.37207	0.587;0.587;0.587	B;B;B	0.40066	0.221;0.318;0.221	T	0.27400	-1.0075	10	0.54805	T	0.06	-3.0873	3.4603	0.07531	0.2323:0.0:0.4186:0.349	.	220;204;164	B7Z5C7;Q14242;B4DHR9	.;SELPL_HUMAN;.	I	194;204;220	ENSP00000373614:T194I;ENSP00000447752:T204I;ENSP00000228463:T220I	ENSP00000228463:T220I	T	-	2	0	SELPLG	107541602	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.203000	0.17315	0.337000	0.23665	0.491000	0.48974	ACT		0.612	SELPLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403904.1			11	42	0	0	0	1	0	11	42					A	109017473	G	A	109017473	3	1	249	1	0	0	0	0	1	0	0	0	14020	1029	36	3	631	3	SELPLG	12	109017473	Missense_Mutation	SNP	G	TCGA-HC-A6HX-01A-11D-A31L-08	60097447	109017473	24834422	13	11690											
NOS1	4842	broad.mit.edu	37	chr12	117723067	117723067	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tgaggttccctttgttggtgGcatacttgacatggttacag	7	15	12	7	0	0	2	0	2	0	0	1	2	1	2	1	4	2	4	1	4	2	6			TCGA-HC-A6HX-01A-11D-A31L-08	TCGA-HC-A6HX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c58837d2-3931-4d77-87bd-24dbb7517c19	7c56bd41-657a-4710-a03e-7fd4e035847b	g.chr12:117723067G>A	ENST00000338101.4	-	6	1365	c.1361C>T	c.(1360-1362)gCc>gTc	p.A454V	NOS1_ENST00000344089.3_3'UTR|NOS1_ENST00000317775.6_Missense_Mutation_p.A454V			Q8WY41	NANO1_HUMAN	nitric oxide synthase 1 (neuronal)	0					cell migration (GO:0016477)|epithelial cell migration (GO:0010631)|negative regulation of translation (GO:0017148)	cytoplasm (GO:0005737)|perinuclear region of cytoplasm (GO:0048471)	RNA binding (GO:0003723)|translation repressor activity (GO:0030371)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)		TTTGTTGGTGGCATACTTGAC	0.552																																					Esophageal Squamous(162;1748 2599 51982 52956)	ENST00000317775.6																			0				NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						c.(1360-1362)gCc>gTc		nitric oxide synthase 1 (neuronal)	L-Citrulline(DB00155)						97	102	101					12																	117723067		2102	4255	6357	SO:0001583	missense	4842				multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding	g.chr12:117723067G>A		CCDS41842.1, CCDS55890.1	12q24.22	2013-09-19			ENSG00000089250	ENSG00000089250	1.14.13.39		7872	protein-coding gene	gene with protein product		163731		NOS		1385308, 7682706	Standard	NM_001204213		Approved	nNOS	uc001twn.2	P29475	OTTHUMG00000137376	ENST00000338101.4:c.1361C>T	12.37:g.117723067G>A	ENSP00000337459:p.Ala454Val					NOS1_ENST00000338101.4_Missense_Mutation_p.A454V|NOS1_ENST00000344089.3_3'UTR	p.A454V	NM_000620.4|NM_001204218.1	NP_000611.1|NP_001191147.1	P29475	NOS1_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.0561)	7	2046	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		454						Missense_Mutation	SNP	ENST00000338101.4	37	c.1361C>T	CCDS55890.1	.	.	.	.	.	.	.	.	.	.	G	32	5.182078	0.94885	.	.	ENSG00000089250	ENST00000397605;ENST00000317775;ENST00000541241;ENST00000338101	T;T	0.57752	0.38;0.38	4.57	4.57	0.56435	Nitric oxide synthase, oxygenase domain (3);	0.000000	0.85682	D	0.000000	T	0.66197	0.2765	M	0.94021	3.485	0.80722	D	1	P	0.47910	0.902	B	0.41271	0.352	T	0.79848	-0.1630	10	0.87932	D	0	-39.9975	17.9077	0.88925	0.0:0.0:1.0:0.0	.	454	P29475	NOS1_HUMAN	V	454	ENSP00000320758:A454V;ENSP00000337459:A454V	ENSP00000320758:A454V	A	-	2	0	NOS1	116207450	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.539000	0.98076	2.541000	0.85698	0.655000	0.94253	GCC		0.552	NOS1-002	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000268053.1			3	32	0	0	0	1	0	3	32					A	117723067	G	A	117723067	3	1	249	1	0	0	0	0	1	0	0	0	10541	1203	42	3	3035	3	NOS1	12	117723067	Missense_Mutation	SNP	G	TCGA-HC-A6HX-01A-11D-A31L-08	8705594	117723067	16128828	14	11691											
KSR2	283455	broad.mit.edu	37	chr12	117977596	117977596	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gggagaaggcggcgtggcacTaggagggagggggggtgctg	7	4	25	5	2	0	1	0	0	0	1	0	4	0	3	0	9	1	2	0	9	2	1			TCGA-HC-A6HX-01A-11D-A31L-08	TCGA-HC-A6HX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c58837d2-3931-4d77-87bd-24dbb7517c19	7c56bd41-657a-4710-a03e-7fd4e035847b	g.chr12:117977596T>G	ENST00000339824.5	-	10	2342	c.1615A>C	c.(1615-1617)Agt>Cgt	p.S539R	KSR2_ENST00000302438.5_Missense_Mutation_p.S236R|KSR2_ENST00000425217.1_Missense_Mutation_p.S510R|KSR2_ENST00000545002.1_5'UTR			Q6VAB6	KSR2_HUMAN	kinase suppressor of ras 2	539	Pro-rich.				intracellular signal transduction (GO:0035556)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GGCGTGGCACTAGGAGGGAGG	0.642																																						ENST00000425217.1																			0				NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						c.(1528-1530)Agt>Cgt		kinase suppressor of ras 2							71	83	79					12																	117977596		2121	4220	6341	SO:0001583	missense	283455				intracellular signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity	g.chr12:117977596T>G	AY345972	CCDS61250.1	12q24.22-q24.23	2014-08-12			ENSG00000171435	ENSG00000171435			18610	protein-coding gene	gene with protein product		610737				12471243	Standard	NM_173598		Approved	FLJ25965	uc001two.2	Q6VAB6	OTTHUMG00000169020	ENST00000339824.5:c.1615A>C	12.37:g.117977596T>G	ENSP00000339952:p.Ser539Arg					KSR2_ENST00000302438.5_Missense_Mutation_p.S236R|KSR2_ENST00000339824.5_Missense_Mutation_p.S539R|KSR2_ENST00000545002.1_5'UTR	p.S510R	NM_173598.4	NP_775869.3	Q6VAB6	KSR2_HUMAN			10	1582	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		539			Pro-rich.		A0PJT2|Q3B828|Q8N775	Missense_Mutation	SNP	ENST00000339824.5	37	c.1528A>C		.	.	.	.	.	.	.	.	.	.	T	23.8	4.455411	0.84209	.	.	ENSG00000171435	ENST00000425217;ENST00000339824;ENST00000302438;ENST00000542378	T;T;D	0.87491	-1.24;-1.26;-2.26	5.04	5.04	0.67666	.	0.000000	0.85682	D	0.000000	D	0.91195	0.7226	L	0.49778	1.585	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.91602	0.5296	10	0.54805	T	0.06	.	14.9375	0.70967	0.0:0.0:0.0:1.0	.	539	Q6VAB6	KSR2_HUMAN	R	510;539;236;211	ENSP00000389715:S510R;ENSP00000339952:S539R;ENSP00000305466:S236R	ENSP00000305466:S236R	S	-	1	0	KSR2	116461979	1.000000	0.71417	0.998000	0.56505	0.696000	0.40369	7.767000	0.85331	2.103000	0.63969	0.533000	0.62120	AGT		0.642	KSR2-001	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000401987.2	NM_173598		8	65	0	0	0	1	0	8	65					G	117977596	T	G	117977596	3	3	249	1	0	0	0	0	1	0	0	0	8582	1522	53	5	1281	5	KSR2	12	117977596	Missense_Mutation	SNP	T	TCGA-HC-A6HX-01A-11D-A31L-08	254529	117977596	15874299	15	11692											
ZIC5	85416	broad.mit.edu	37	chr13	100623637	100623637	+	Frame_Shift_Del	DEL	T	T	-																															tgaggcccagcgtgctcgccTgggccatgtgctcgggtccg																										TCGA-HC-A6HX-01A-11D-A31L-08	TCGA-HC-A6HX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c58837d2-3931-4d77-87bd-24dbb7517c19	7c56bd41-657a-4710-a03e-7fd4e035847b	g.chr13:100623637delT	ENST00000267294.4	-	1	526	c.293delA	c.(292-294)cagfs	p.Q98fs		NM_033132.3	NP_149123.2	Q96T25	ZIC5_HUMAN	Zic family member 5	98					cell differentiation (GO:0030154)|forebrain development (GO:0030900)|neural tube closure (GO:0001843)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|kidney(1)|lung(2)|prostate(1)|skin(2)	9	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					CGTGCTCGCCTGGGCCATGTG	0.771																																						ENST00000267294.4																			0				endometrium(3)|kidney(1)|lung(2)|prostate(1)|skin(2)	9						c.(292-294)cgfs		Zic family member 5							6	6	6					13																	100623637		1973	3794	5767	SO:0001589	frameshift_variant	85416				cell differentiation	nucleus	DNA binding|zinc ion binding	g.chr13:100623637delT	AF378304	CCDS9494.2	13q32.2	2013-01-08	2011-05-19		ENSG00000139800	ENSG00000139800		"Zinc fingers, C2H2-type"	20322	protein-coding gene	gene with protein product			"Zic family member 5 (odd-paired homolog, Drosophila)"				Standard	NM_033132		Approved		uc001vom.1	Q96T25	OTTHUMG00000017280	ENST00000267294.4:c.293delA	13.37:g.100623637delT	ENSP00000267294:p.Gln98fs						p.Q98fs	NM_033132.3	NP_149123.2	Q96T25	ZIC5_HUMAN			1	526	-	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		98					Q5VYB0	Frame_Shift_Del	DEL	ENST00000267294.4	37	c.293delA	CCDS9494.2																																																																																				0.771	ZIC5-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000045623.3	NM_033132		2	4						2	4	---	---	---	---	-	100623637	T	-	100623637	7	5	249	1	0	1	0	1	0	0	0	0	17679	1580	55	0	1706	0	ZIC5	13	100623637	Frame_Shift_Del	DEL	T	TCGA-HC-A6HX-01A-11D-A31L-08		100623637	14546241	16	11693											
LCMT2	9836	broad.mit.edu	37	chr15	43621413	43621413	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	accagaacccgactctctgaGagtcttgtcatggtgtgata	10	11	10	10	1	3	3	1	2	2	2	4	5	3	3	2	1	1	0	2	1	2	2			TCGA-HC-A6HX-01A-11D-A31L-08	TCGA-HC-A6HX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c58837d2-3931-4d77-87bd-24dbb7517c19	7c56bd41-657a-4710-a03e-7fd4e035847b	g.chr15:43621413G>A	ENST00000305641.5	-	1	1390	c.1275C>T	c.(1273-1275)ctC>ctT	p.L425L	LCMT2_ENST00000544735.1_Silent_p.L4L|ADAL_ENST00000389651.4_5'Flank|ADAL_ENST00000428046.3_5'Flank|ADAL_ENST00000422466.2_5'Flank|LCMT2_ENST00000567039.1_3'UTR	NM_014793.4	NP_055608.2	O60294	TYW4_HUMAN	leucine carboxyl methyltransferase 2	425					tRNA processing (GO:0008033)		methyltransferase activity (GO:0008168)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(2)|liver(1)|lung(9)|skin(1)|urinary_tract(1)	20		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;8.1e-07)	L-Leucine(DB00149)	GACTCTCTGAGAGTCTTGTCA	0.488																																						ENST00000305641.5																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(2)|liver(1)|lung(9)|skin(1)|urinary_tract(1)	20						c.(1273-1275)ctC>ctT		leucine carboxyl methyltransferase 2	L-Leucine(DB00149)						90	97	94					15																	43621413		2201	4299	6500	SO:0001819	synonymous_variant	9836				tRNA processing		methyltransferase activity|protein binding	g.chr15:43621413G>A	AF265443	CCDS10094.1	15q15.3	2007-01-26			ENSG00000168806	ENSG00000168806			17558	protein-coding gene	gene with protein product	"tRNA-yW synthesizing protein 4"	611246				9628581, 17150819	Standard	NM_014793		Approved	KIAA0547, MGC9534, TYW4, PPM2	uc001zrg.3	O60294	OTTHUMG00000130705	ENST00000305641.5:c.1275C>T	15.37:g.43621413G>A						LCMT2_ENST00000544735.1_Silent_p.L4L|LCMT2_ENST00000567039.1_3'UTR	p.L425L	NM_014793.4	NP_055608.2	O60294	LCMT2_HUMAN		GBM - Glioblastoma multiforme(94;8.1e-07)	1	1390	-		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)	425					Q4JFT6|Q96B55|Q9NR10	Silent	SNP	ENST00000305641.5	37	c.1275C>T	CCDS10094.1																																																																																				0.488	LCMT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253205.1	NM_014793		9	86	0	0	0	1	0	9	86					A	43621413	G	A	43621413	2	1	249	1	0	0	0	0	0	0	0	1	8679	929	33	3		3	LCMT2	15	43621413	Silent	SNP	G	TCGA-HC-A6HX-01A-11D-A31L-08		43621413	58909979	17	11694											
NR2F2	7026	broad.mit.edu	37	chr15	96875647	96875647	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gctgcaagagcttcttcaagCgcagcgtgcggaggaacctg	9	7	14	11	3	2	1	1	0	1	1	2	3	2	3	1	2	6	4	1	2	3	2			TCGA-HC-A6HX-01A-11D-A31L-08	TCGA-HC-A6HX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c58837d2-3931-4d77-87bd-24dbb7517c19	7c56bd41-657a-4710-a03e-7fd4e035847b	g.chr15:96875647C>G	ENST00000394166.3	+	1	1702	c.313C>G	c.(313-315)Cgc>Ggc	p.R105G	MIR1469_ENST00000410719.1_RNA|NR2F2_ENST00000453270.2_5'Flank|NR2F2_ENST00000421109.2_Intron|NR2F2_ENST00000394171.2_5'Flank	NM_021005.3	NP_066285.1	P24468	COT2_HUMAN	nuclear receptor subfamily 2, group F, member 2	105					anterior/posterior pattern specification (GO:0009952)|blood vessel morphogenesis (GO:0048514)|fertilization (GO:0009566)|forebrain development (GO:0030900)|intracellular receptor signaling pathway (GO:0030522)|limb development (GO:0060173)|lipid metabolic process (GO:0006629)|maternal placenta development (GO:0001893)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron migration (GO:0001764)|placenta blood vessel development (GO:0060674)|positive regulation of transcription, DNA-templated (GO:0045893)|radial pattern formation (GO:0009956)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription involved in lymphatic endothelial cell fate commitment (GO:0060849)|response to estradiol (GO:0032355)|signal transduction (GO:0007165)|skeletal muscle tissue development (GO:0007519)|trophoblast giant cell differentiation (GO:0060707)	nucleus (GO:0005634)	ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein homodimerization activity (GO:0042803)|retinoic acid binding (GO:0001972)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|liver(2)|lung(3)|ovary(2)|urinary_tract(1)	17	Lung NSC(78;0.0186)|Melanoma(26;0.0195)|all_lung(78;0.0297)		OV - Ovarian serous cystadenocarcinoma(32;0.0856)			CTTCTTCAAGCGCAGCGTGCG	0.612																																						ENST00000394166.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|liver(2)|lung(3)|ovary(2)|urinary_tract(1)	17						c.(313-315)Cgc>Ggc		nuclear receptor subfamily 2, group F, member 2							71	57	62					15																	96875647		2197	4298	6495	SO:0001583	missense	7026				lipid metabolic process|negative regulation of cyclin-dependent protein kinase activity|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment	nucleus	ligand-regulated transcription factor activity|protein homodimerization activity|retinoic acid binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription corepressor activity|zinc ion binding	g.chr15:96875647C>G	M64497	CCDS10375.1, CCDS45358.1, CCDS45359.1	15q26	2013-01-16			ENSG00000185551	ENSG00000185551		"Nuclear hormone receptors"	7976	protein-coding gene	gene with protein product		107773		ARP1, TFCOUP2		8530078, 11544252	Standard	NM_021005		Approved	COUP-TFII, COUPTFB, SVP40, NF-E3	uc010uri.2	P24468	OTTHUMG00000149848	ENST00000394166.3:c.313C>G	15.37:g.96875647C>G	ENSP00000377721:p.Arg105Gly					NR2F2_ENST00000421109.2_Intron	p.R105G	NM_021005.3	NP_066285.1	P24468	COT2_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.0856)		1	1702	+	Lung NSC(78;0.0186)|Melanoma(26;0.0195)|all_lung(78;0.0297)		105					B4DQJ2|B6ZGU1|Q03754|Q3KQR7	Missense_Mutation	SNP	ENST00000394166.3	37	c.313C>G	CCDS10375.1	.	.	.	.	.	.	.	.	.	.	C	19.63	3.863411	0.71949	.	.	ENSG00000185551	ENST00000394166	D	0.98987	-5.3	4.61	3.6	0.41247	Zinc finger, NHR/GATA-type (1);Zinc finger, nuclear hormone receptor-type (5);	0.226336	0.32703	N	0.005747	D	0.99677	0.9879	H	0.99946	5.015	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.96693	0.9512	10	0.87932	D	0	.	13.1377	0.59419	0.1947:0.8052:0.0:0.0	.	105	P24468	COT2_HUMAN	G	105	ENSP00000377721:R105G	ENSP00000377721:R105G	R	+	1	0	NR2F2	94676651	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.502000	0.45398	2.097000	0.63578	0.462000	0.41574	CGC		0.612	NR2F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313534.1			3	31	0	0	0	1	0	3	31					G	96875647	C	G	96875647	3	3	249	1	0	0	0	0	1	0	0	0	10628	768	27	5	362	5	NR2F2	15	96875647	Missense_Mutation	SNP	C	TCGA-HC-A6HX-01A-11D-A31L-08	53254234	96875647	5655745	18	11695											
CPPED1	55313	broad.mit.edu	37	chr16	12875121	12875121	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttgttgatggcctggacggcTtgctcagttagacggatctc	6	13	13	9	2	2	2	1	1	1	1	3	4	2	4	1	4	1	4	1	4	1	4			TCGA-HC-A6HX-01A-11D-A31L-08	TCGA-HC-A6HX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c58837d2-3931-4d77-87bd-24dbb7517c19	7c56bd41-657a-4710-a03e-7fd4e035847b	g.chr16:12875121T>C	ENST00000381774.4	-	2	450	c.210A>G	c.(208-210)caA>caG	p.Q70Q	CPPED1_ENST00000433677.2_Silent_p.Q70Q|CPPED1_ENST00000261660.4_Silent_p.Q70Q	NM_018340.2	NP_060810.2	Q9BRF8	CPPED_HUMAN	calcineurin-like phosphoesterase domain containing 1	70	Catalytic.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	metal ion binding (GO:0046872)|phosphoprotein phosphatase activity (GO:0004721)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|skin(1)|urinary_tract(1)	18						CCTGGACGGCTTGCTCAGTTA	0.572																																						ENST00000381774.4																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|skin(1)|urinary_tract(1)	18						c.(208-210)caA>caG		calcineurin-like phosphoesterase domain containing 1							125	131	129					16																	12875121		2084	4209	6293	SO:0001819	synonymous_variant	55313						hydrolase activity|metal ion binding	g.chr16:12875121T>C	AK022710	CCDS42119.1, CCDS42120.1	16p13.12	2014-02-12	2009-03-13		ENSG00000103381	ENSG00000103381			25632	protein-coding gene	gene with protein product	"complete S transactivated protein 1"	615603				12477932	Standard	NM_018340		Approved	CSTP1, FLJ11151	uc002dca.4	Q9BRF8	OTTHUMG00000167711	ENST00000381774.4:c.210A>G	16.37:g.12875121T>C						CPPED1_ENST00000433677.2_Silent_p.Q70Q|CPPED1_ENST00000261660.4_Silent_p.Q70Q	p.Q70Q	NM_018340.2	NP_060810.2	Q9BRF8	CPPED_HUMAN			2	450	-			70					B4DQ68|Q6MZY9|Q9H9M9|Q9NUT6	Silent	SNP	ENST00000381774.4	37	c.210A>G	CCDS42120.1																																																																																				0.572	CPPED1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395795.2	NM_018340		4	38	0	0	0	1	0	4	38					C	12875121	T	C	12875121	2	2	249	1	0	0	0	0	0	0	0	1	3822	1606	56	4		4	CPPED1	16	12875121	Silent	SNP	T	TCGA-HC-A6HX-01A-11D-A31L-08		12875121	77479632	19	11696											
CDK12	51755	broad.mit.edu	37	chr17	37618973	37618973	+	Nonsense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	acaaaacagtggacagcccaAaacggagatccaggagcccc	16	2	10	13	1	0	1	0	0	0	1	1	4	1	3	4	3	4	0	4	3	4	0			TCGA-HC-A6HX-01A-11D-A31L-08	TCGA-HC-A6HX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c58837d2-3931-4d77-87bd-24dbb7517c19	7c56bd41-657a-4710-a03e-7fd4e035847b	g.chr17:37618973A>T	ENST00000447079.4	+	1	682	c.649A>T	c.(649-651)Aaa>Taa	p.K217*	CDK12_ENST00000430627.2_Nonsense_Mutation_p.K217*	NM_015083.1|NM_016507.2	NP_055898.1|NP_057591.2	Q9NYV4	CDK12_HUMAN	cyclin-dependent kinase 12	217					mRNA processing (GO:0006397)|phosphorylation of RNA polymerase II C-terminal domain (GO:0070816)|protein autophosphorylation (GO:0046777)|regulation of MAP kinase activity (GO:0043405)|RNA splicing (GO:0008380)	cyclin K-CDK12 complex (GO:0002944)|nuclear cyclin-dependent protein kinase holoenzyme complex (GO:0019908)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cyclin binding (GO:0030332)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)			NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3)	70						GGACAGCCCAAAACGGAGATC	0.502			"Mis, N, F"		serous ovarian					TCGA Ovarian(9;0.13)																												ENST00000447079.4				Rec	yes		17	17q12	51755	"Mis, N, F"	cyclin-dependent kinase 12			E			serous ovarian		0				NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3)	70						c.(649-651)Aaa>Taa		cyclin-dependent kinase 12							75	85	81					17																	37618973		2203	4300	6503	SO:0001587	stop_gained	51755				mRNA processing|phosphorylation of RNA polymerase II C-terminal domain|protein autophosphorylation|regulation of MAP kinase activity|RNA splicing	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck|nucleolus	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity	g.chr17:37618973A>T	AF227198	CCDS11337.1, CCDS45666.1	17q12	2011-10-25	2009-12-16	2009-12-16	ENSG00000167258	ENSG00000167258		"Cyclin-dependent kinases"	24224	protein-coding gene	gene with protein product	"CDC2 related protein kinase 7"	615514	"Cdc2-related kinase, arginine/serine-rich"	CRKRS		10048485, 11683387, 19884882	Standard	XM_005257456		Approved	CRK7, CRKR, KIAA0904	uc010cvv.3	Q9NYV4	OTTHUMG00000133214	ENST00000447079.4:c.649A>T	17.37:g.37618973A>T	ENSP00000398880:p.Lys217*	TCGA Ovarian(9;0.13)				CDK12_ENST00000430627.2_Nonsense_Mutation_p.K217*	p.K217*	NM_015083.1|NM_016507.2	NP_055898.1|NP_057591.2	Q9NYV4	CDK12_HUMAN			1	682	+			217					A7E2B2|B4DYX4|B9EIQ6|O94978	Nonsense_Mutation	SNP	ENST00000447079.4	37	c.649A>T	CCDS11337.1	.	.	.	.	.	.	.	.	.	.	A	22.8	4.339460	0.81911	.	.	ENSG00000167258	ENST00000430627;ENST00000447079	.	.	.	5.07	3.91	0.45181	.	0.000000	0.46442	D	0.000290	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-10.8233	11.5313	0.50612	0.8503:0.1497:0.0:0.0	.	.	.	.	X	217	.	ENSP00000407720:K217X	K	+	1	0	CDK12	34872499	0.986000	0.35501	0.879000	0.34478	0.652000	0.38707	3.010000	0.49559	1.907000	0.55213	0.379000	0.24179	AAA		0.502	CDK12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256941.4	NM_016507		11	98	0	0	0	1	0	11	98					T	37618973	A	T	37618973	4	4	249	1	0	0	0	0	0	1	0	0	3128	15	1	5	651	5	CDK12	17	37618973	Nonsense_Mutation	SNP	A	TCGA-HC-A6HX-01A-11D-A31L-08		37618973	43576237	20	11697											
CDK12	51755	broad.mit.edu	37	chr17	37667841	37667841	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	acctccagaactactgctagGagaggaacgttacacaccag	14	6	9	12	1	0	2	0	0	0	2	1	4	1	3	3	2	5	2	3	2	5	3	rs538308945		TCGA-HC-A6HX-01A-11D-A31L-08	TCGA-HC-A6HX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c58837d2-3931-4d77-87bd-24dbb7517c19	7c56bd41-657a-4710-a03e-7fd4e035847b	g.chr17:37667841G>A	ENST00000447079.4	+	8	2759	c.2726G>A	c.(2725-2727)gGa>gAa	p.G909E	CDK12_ENST00000430627.2_Missense_Mutation_p.G909E	NM_015083.1|NM_016507.2	NP_055898.1|NP_057591.2	Q9NYV4	CDK12_HUMAN	cyclin-dependent kinase 12	909	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				mRNA processing (GO:0006397)|phosphorylation of RNA polymerase II C-terminal domain (GO:0070816)|protein autophosphorylation (GO:0046777)|regulation of MAP kinase activity (GO:0043405)|RNA splicing (GO:0008380)	cyclin K-CDK12 complex (GO:0002944)|nuclear cyclin-dependent protein kinase holoenzyme complex (GO:0019908)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cyclin binding (GO:0030332)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)			NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3)	70						CTACTGCTAGGAGAGGAACGT	0.398			"Mis, N, F"		serous ovarian					TCGA Ovarian(9;0.13)			G|||	1	0.000199681	8e-04	0	5008	,	,		17739	0		0	False		,,,				2504	0					ENST00000447079.4				Rec	yes		17	17q12	51755	"Mis, N, F"	cyclin-dependent kinase 12			E			serous ovarian		0				NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3)	70						c.(2725-2727)gGa>gAa		cyclin-dependent kinase 12							119	113	115					17																	37667841		2203	4300	6503	SO:0001583	missense	51755				mRNA processing|phosphorylation of RNA polymerase II C-terminal domain|protein autophosphorylation|regulation of MAP kinase activity|RNA splicing	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck|nucleolus	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity	g.chr17:37667841G>A	AF227198	CCDS11337.1, CCDS45666.1	17q12	2011-10-25	2009-12-16	2009-12-16	ENSG00000167258	ENSG00000167258		"Cyclin-dependent kinases"	24224	protein-coding gene	gene with protein product	"CDC2 related protein kinase 7"	615514	"Cdc2-related kinase, arginine/serine-rich"	CRKRS		10048485, 11683387, 19884882	Standard	XM_005257456		Approved	CRK7, CRKR, KIAA0904	uc010cvv.3	Q9NYV4	OTTHUMG00000133214	ENST00000447079.4:c.2726G>A	17.37:g.37667841G>A	ENSP00000398880:p.Gly909Glu	TCGA Ovarian(9;0.13)				CDK12_ENST00000430627.2_Missense_Mutation_p.G909E	p.G909E	NM_015083.1|NM_016507.2	NP_055898.1|NP_057591.2	Q9NYV4	CDK12_HUMAN			8	2759	+			909			Protein kinase.		A7E2B2|B4DYX4|B9EIQ6|O94978	Missense_Mutation	SNP	ENST00000447079.4	37	c.2726G>A	CCDS11337.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.024168	0.75390	.	.	ENSG00000167258	ENST00000430627;ENST00000447079	T;T	0.52295	0.67;0.67	5.22	5.22	0.72569	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.46145	D	0.000306	T	0.71358	0.3330	M	0.79258	2.445	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.75007	-0.3469	10	0.87932	D	0	-10.2641	19.1453	0.93463	0.0:0.0:1.0:0.0	.	908;909;909	E7EUM9;Q9NYV4;Q9NYV4-2	.;CDK12_HUMAN;.	E	909	ENSP00000407720:G909E;ENSP00000398880:G909E	ENSP00000407720:G909E	G	+	2	0	CDK12	34921367	1.000000	0.71417	0.999000	0.59377	0.746000	0.42486	9.686000	0.98664	2.597000	0.87782	0.555000	0.69702	GGA		0.398	CDK12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256941.4	NM_016507		8	54	0	0	0	1	0	8	54					A	37667841	G	A	37667841	3	1	249	1	0	0	0	0	1	0	0	0	3128	1174	41	3	2756	3	CDK12	17	37667841	Missense_Mutation	SNP	G	TCGA-HC-A6HX-01A-11D-A31L-08	48868	37667841	43527369	21	11698											
UBTF	7343	broad.mit.edu	37	chr17	42293035	42293035	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cccccaccttcttcttctccGgaagctccttgtatttcttg	4	16	5	16	1	4	0	0	0	4	0	6	1	5	1	5	1	1	2	5	1	2	7			TCGA-HC-A6HX-01A-11D-A31L-08	TCGA-HC-A6HX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c58837d2-3931-4d77-87bd-24dbb7517c19	7c56bd41-657a-4710-a03e-7fd4e035847b	g.chr17:42293035G>A	ENST00000302904.4	-	5	953	c.461C>T	c.(460-462)cCg>cTg	p.P154L	UBTF_ENST00000436088.1_Missense_Mutation_p.P154L|UBTF_ENST00000526094.1_Missense_Mutation_p.P154L|UBTF_ENST00000533177.1_Missense_Mutation_p.P154L|UBTF_ENST00000537550.1_5'UTR|UBTF_ENST00000529383.1_Missense_Mutation_p.P154L|UBTF_ENST00000343638.5_Missense_Mutation_p.P154L|UBTF_ENST00000393606.3_Missense_Mutation_p.P154L|UBTF_ENST00000527034.1_Missense_Mutation_p.P154L|CTB-175E5.7_ENST00000586560.1_RNA			P17480	UBF1_HUMAN	upstream binding transcription factor, RNA polymerase I	154					chromatin silencing at rDNA (GO:0000183)|gene expression (GO:0010467)|positive regulation of transcription from RNA polymerase I promoter (GO:0045943)|regulation of transcription from RNA polymerase I promoter (GO:0006356)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(10)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Breast(137;0.00765)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.114)		CTTCTTCTCCGGAAGCTCCTT	0.557																																						ENST00000302904.4																			0				breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(10)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(460-462)cCg>cTg		upstream binding transcription factor, RNA polymerase I							103	107	106					17																	42293035		2203	4300	6503	SO:0001583	missense	7343				positive regulation of transcription from RNA polymerase I promoter|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	nucleolus|nucleoplasm	DNA binding|protein binding	g.chr17:42293035G>A	BC042297	CCDS11480.1, CCDS42346.1	17q21.31	2014-03-25			ENSG00000108312	ENSG00000108312			12511	protein-coding gene	gene with protein product		600673				9126496	Standard	NM_001076683		Approved	UBF, NOR-90, UBF1, UBF2	uc010czs.3	P17480	OTTHUMG00000167585	ENST00000302904.4:c.461C>T	17.37:g.42293035G>A	ENSP00000302640:p.Pro154Leu					UBTF_ENST00000343638.5_Missense_Mutation_p.P154L|UBTF_ENST00000529383.1_Missense_Mutation_p.P154L|UBTF_ENST00000537550.1_5'UTR|UBTF_ENST00000393606.3_Missense_Mutation_p.P154L|UBTF_ENST00000533177.1_Missense_Mutation_p.P154L|UBTF_ENST00000527034.1_Missense_Mutation_p.P154L|CTB-175E5.7_ENST00000586560.1_RNA|UBTF_ENST00000526094.1_Missense_Mutation_p.P154L|UBTF_ENST00000436088.1_Missense_Mutation_p.P154L	p.P154L			P17480	UBF1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.114)	5	953	-		Breast(137;0.00765)|Prostate(33;0.0181)	154					A8K6R8	Missense_Mutation	SNP	ENST00000302904.4	37	c.461C>T	CCDS11480.1	.	.	.	.	.	.	.	.	.	.	g	26.3	4.722032	0.89298	.	.	ENSG00000108312	ENST00000343638;ENST00000302904;ENST00000527034;ENST00000533177;ENST00000436088;ENST00000393606;ENST00000526094;ENST00000529383;ENST00000530828	D;D;D;D;D;D;D;D;D	0.98090	-4.71;-4.71;-4.71;-4.71;-4.71;-4.71;-4.71;-4.71;-4.71	4.27	4.27	0.50696	High mobility group, superfamily (1);High mobility group, HMG1/HMG2 (4);	0.000000	0.85682	D	0.000000	D	0.98960	0.9646	M	0.92691	3.335	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.982;1.0	D	0.99402	1.0928	10	0.54805	T	0.06	-17.7319	16.6665	0.85254	0.0:0.0:1.0:0.0	.	154;154;154	E9PKP7;P17480-2;P17480	.;.;UBF1_HUMAN	L	154;154;154;154;154;154;154;154;126	ENSP00000345297:P154L;ENSP00000302640:P154L;ENSP00000431539:P154L;ENSP00000437180:P154L;ENSP00000390669:P154L;ENSP00000377231:P154L;ENSP00000432925:P154L;ENSP00000435708:P154L;ENSP00000433046:P126L	ENSP00000302640:P154L	P	-	2	0	UBTF	39648561	1.000000	0.71417	0.997000	0.53966	0.990000	0.78478	9.730000	0.98797	2.082000	0.62665	0.467000	0.42956	CCG		0.557	UBTF-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395205.1	NM_014233		14	136	0	0	0	1	0	14	136					A	42293035	G	A	42293035	3	1	249	1	0	0	0	0	1	0	0	0	16906	1116	39	2	1901	2	UBTF	17	42293035	Missense_Mutation	SNP	G	TCGA-HC-A6HX-01A-11D-A31L-08	4625194	42293035	38902175	22	11699											
ZNF397OS	100101467	broad.mit.edu	37	chr18	32833679	32833679	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catagcttttatctccagtgTgaattttcttatgctgaata	10	18	6	7	0	2	2	0	2	2	0	3	2	2	2	1	0	2	2	1	0	6	7			TCGA-HC-A6HX-01A-11D-A31L-08	TCGA-HC-A6HX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c58837d2-3931-4d77-87bd-24dbb7517c19	7c56bd41-657a-4710-a03e-7fd4e035847b	g.chr18:32833679T>C	ENST00000420878.3	-	5	1675	c.1220A>G	c.(1219-1221)cAc>cGc	p.H407R	ZNF397_ENST00000592264.1_Intron|ZNF397_ENST00000589420.1_Intron|ZSCAN30_ENST00000333206.5_Missense_Mutation_p.H407R|ZNF397_ENST00000261333.6_Intron|ZNF397_ENST00000355632.4_Intron	NM_001166012.1	NP_001159484.1	Q86W11	ZSC30_HUMAN	zinc finger and SCAN domain containing 30	407					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			large_intestine(5)|lung(3)|urinary_tract(1)	9						ATCTCCAGTGTGAATTTTCTT	0.433																																						ENST00000420878.3																			0				large_intestine(5)|lung(3)|urinary_tract(1)	9						c.(1219-1221)cAc>cGc		zinc finger and SCAN domain containing 30							95	92	93					18																	32833679		1568	3582	5150	SO:0001583	missense	100101467				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr18:32833679T>C	AY234408	CCDS42427.1, CCDS74207.1	18q12.2	2013-01-08	2010-07-23	2010-07-23	ENSG00000186814	ENSG00000186814		"-", "Zinc fingers, C2H2-type"	33517	protein-coding gene	gene with protein product			"zinc finger protein 397 opposite strand", "ZNF397 opposite strand"	ZNF397OS		12801647	Standard	NM_001166012		Approved	ZNF917	uc002kym.3	Q86W11		ENST00000420878.3:c.1220A>G	18.37:g.32833679T>C	ENSP00000392371:p.His407Arg					ZSCAN30_ENST00000333206.5_Missense_Mutation_p.H407R|ZNF397_ENST00000261333.6_Intron|ZNF397_ENST00000355632.4_Intron|ZNF397_ENST00000589420.1_Intron|ZNF397_ENST00000592264.1_Intron	p.H407R	NM_001166012.1	NP_001159484.1	Q86W11	ZSC30_HUMAN			5	1675	-			407					B4E0N0|Q6ZNB3|Q96PN3	Missense_Mutation	SNP	ENST00000420878.3	37	c.1220A>G	CCDS42427.1	.	.	.	.	.	.	.	.	.	.	T	17.86	3.493378	0.64186	.	.	ENSG00000186814	ENST00000420878;ENST00000333206;ENST00000360932	T;T	0.67523	-0.27;-0.27	4.19	4.19	0.49359	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.37955	N	0.001875	D	0.82664	0.5086	M	0.88979	2.995	0.80722	D	1	D	0.76494	0.999	D	0.76575	0.988	D	0.85733	0.1332	10	0.87932	D	0	.	11.5304	0.50607	0.0:0.0:0.0:1.0	.	407	Q86W11	ZSC30_HUMAN	R	407;407;342	ENSP00000392371:H407R;ENSP00000329738:H407R	ENSP00000329738:H407R	H	-	2	0	ZSCAN30	31087677	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.866000	0.69590	1.885000	0.54596	0.533000	0.62120	CAC		0.433	ZSCAN30-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442510.1	NM_001112734		3	67	0	0	0	1	0	3	67					C	32833679	T	C	32833679	3	2	249	1	0	0	0	0	1	0	0	0	17881	1696	59	4	268	4	ZNF397OS	18	32833679	Missense_Mutation	SNP	T	TCGA-HC-A6HX-01A-11D-A31L-08		32833679	45243569	23	11700											
CPAMD8	27151	broad.mit.edu	37	chr19	17015110	17015110	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacaggcagggcggcagccaCgtcacccagcagagtgtagg	10	3	15	13	2	1	1	1	0	0	1	1	1	1	1	2	4	2	4	2	4	1	1	rs372432362		TCGA-HC-A6HX-01A-11D-A31L-08	TCGA-HC-A6HX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c58837d2-3931-4d77-87bd-24dbb7517c19	7c56bd41-657a-4710-a03e-7fd4e035847b	g.chr19:17015110C>T	ENST00000443236.1	-	32	4349	c.4318G>A	c.(4318-4320)Gtg>Atg	p.V1440M		NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain containing 8	1393						extracellular space (GO:0005615)|plasma membrane (GO:0005886)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						GCGGCAGCCACGTCACCCAGC	0.632																																						ENST00000443236.1																			0				breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						c.(4318-4320)Gtg>Atg		C3 and PZP-like, alpha-2-macroglobulin domain containing 8		C	MET/VAL	0,4136		0,0,2068	48	53	52		4318	3	0.2	19		52	1,8427		0,1,4213	no	missense	CPAMD8	NM_015692.2	21	0,1,6281	TT,TC,CC		0.0119,0.0,0.0080	possibly-damaging	1440/1933	17015110	1,12563	2068	4214	6282	SO:0001583	missense	27151					extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity	g.chr19:17015110C>T	AY101765	CCDS42519.1	19p13.12	2008-02-05			ENSG00000160111	ENSG00000160111			23228	protein-coding gene	gene with protein product		608841				10574462	Standard	NM_015692		Approved	KIAA1283, VIP, K-CAP	uc002nfb.3	Q8IZJ3	OTTHUMG00000133549	ENST00000443236.1:c.4318G>A	19.37:g.17015110C>T	ENSP00000402505:p.Val1440Met						p.V1440M	NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN			32	4349	-			1393					Q8NC09|Q9ULD7	Missense_Mutation	SNP	ENST00000443236.1	37	c.4318G>A	CCDS42519.1	.	.	.	.	.	.	.	.	.	.	C	16.43	3.119799	0.56613	0.0	1.19E-4	ENSG00000160111	ENST00000291440	.	.	.	3.02	3.02	0.34903	Terpenoid cylases/protein prenyltransferase alpha-alpha toroid (1);A-macroglobulin complement component (1);	0.000000	0.64402	U	0.000006	T	0.55353	0.1915	L	0.48218	1.51	0.80722	D	1	P	0.46578	0.88	P	0.45794	0.493	T	0.62153	-0.6914	9	0.62326	D	0.03	.	14.0366	0.64649	0.0:1.0:0.0:0.0	.	1393	Q8IZJ3	CPMD8_HUMAN	M	1440	.	ENSP00000291440:V1440M	V	-	1	0	CPAMD8	16876110	0.999000	0.42202	0.191000	0.23289	0.394000	0.30568	4.541000	0.60670	1.255000	0.44051	0.456000	0.33151	GTG		0.632	CPAMD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257531.2	NM_015692		6	45	0	0	0	1	0	6	45					T	17015110	C	T	17015110	3	4	249	1	0	0	0	0	1	0	0	0	3795	536	19	1	1524	1	CPAMD8	19	17015110	Missense_Mutation	SNP	C	TCGA-HC-A6HX-01A-11D-A31L-08		17015110	42113873	24	11701											
ZNF480	147657	broad.mit.edu	37	chr19	52825756	52825756	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttcaaatcttgcacgacatcGaagaattcatactggagaga	15	10	8	8	2	3	2	2	0	1	2	4	6	3	3	0	1	2	1	0	1	4	4	rs368398384		TCGA-HC-A6HX-01A-11D-A31L-08	TCGA-HC-A6HX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c58837d2-3931-4d77-87bd-24dbb7517c19	7c56bd41-657a-4710-a03e-7fd4e035847b	g.chr19:52825756G>A	ENST00000595962.1	+	5	1319	c.1253G>A	c.(1252-1254)cGa>cAa	p.R418Q	ZNF480_ENST00000335090.6_Missense_Mutation_p.R341Q|CTD-2525I3.6_ENST00000594379.1_RNA|ZNF480_ENST00000490272.1_3'UTR|ZNF480_ENST00000334564.7_Missense_Mutation_p.R375Q	NM_144684.2	NP_653285.2	Q8WV37	ZN480_HUMAN	zinc finger protein 480	418					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	12				GBM - Glioblastoma multiforme(134;0.00212)|OV - Ovarian serous cystadenocarcinoma(262;0.00369)		GCACGACATCGAAGAATTCAT	0.373																																						ENST00000595962.1																			0				endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	12						c.(1252-1254)cGa>cAa		zinc finger protein 480		G	GLN/ARG	0,4406		0,0,2203	89	94	92		1253	-2.3	0	19		92	1,8599	1.2+/-3.3	0,1,4299	no	missense	ZNF480	NM_144684.2	43	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	418/536	52825756	1,13005	2203	4300	6503	SO:0001583	missense	147657				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	g.chr19:52825756G>A	AY512662	CCDS12850.2, CCDS74437.1	19q13.41	2013-01-08			ENSG00000198464	ENSG00000198464		"Zinc fingers, C2H2-type", "-"	23305	protein-coding gene	gene with protein product		613910				15219843	Standard	XM_005258525		Approved	MGC32104	uc010ydl.2	Q8WV37	OTTHUMG00000157507	ENST00000595962.1:c.1253G>A	19.37:g.52825756G>A	ENSP00000471754:p.Arg418Gln					ZNF480_ENST00000334564.7_Missense_Mutation_p.R375Q|CTD-2525I3.6_ENST00000594379.1_RNA|ZNF480_ENST00000490272.1_3'UTR|ZNF480_ENST00000335090.6_Missense_Mutation_p.R341Q	p.R418Q	NM_144684.2	NP_653285.2	Q8WV37	ZN480_HUMAN		GBM - Glioblastoma multiforme(134;0.00212)|OV - Ovarian serous cystadenocarcinoma(262;0.00369)	5	1319	+			418					Q5JPG9|Q6P0Q4|Q8N1M5	Missense_Mutation	SNP	ENST00000595962.1	37	c.1253G>A	CCDS12850.2	.	.	.	.	.	.	.	.	.	.	G	0.013	-1.643369	0.00792	0.0	1.16E-4	ENSG00000198464	ENST00000468240;ENST00000334564;ENST00000335090	T;T;T	0.36878	1.23;1.23;1.23	2.21	-2.35	0.06684	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.11153	0.0272	N	0.10664	0.02	0.09310	N	1	B;B	0.27791	0.189;0.142	B;B	0.18871	0.014;0.023	T	0.25222	-1.0138	9	0.02654	T	1	.	2.9642	0.05902	0.554:0.0:0.2616:0.1844	.	375;418	F8WEZ9;Q8WV37	.;ZN480_HUMAN	Q	418;375;341	ENSP00000417424:R418Q;ENSP00000334164:R375Q;ENSP00000335670:R341Q	ENSP00000334164:R375Q	R	+	2	0	ZNF480	57517568	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.388000	0.07352	-0.868000	0.04058	-0.384000	0.06662	CGA		0.373	ZNF480-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000349001.3	NM_144684		13	89	0	0	0	1	0	13	89					A	52825756	G	A	52825756	3	1	249	1	0	0	0	0	1	0	0	0	17932	1058	37	2	1267	2	ZNF480	19	52825756	Missense_Mutation	SNP	G	TCGA-HC-A6HX-01A-11D-A31L-08	35810646	52825756	6303227	25	11702											
FAM47C	442444	broad.mit.edu	37	chrX	37027275	37027275	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccacctggagcctcccgaGactggagtgtcccatctcta	7	9	9	16	1	1	1	0	0	1	1	5	4	4	3	5	2	1	0	5	2	1	1			TCGA-HC-A6HX-01A-11D-A31L-08	TCGA-HC-A6HX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c58837d2-3931-4d77-87bd-24dbb7517c19	7c56bd41-657a-4710-a03e-7fd4e035847b	g.chrX:37027275G>T	ENST00000358047.3	+	1	844	c.792G>T	c.(790-792)gaG>gaT	p.E264D		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	264										breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						AGCCTCCCGAGACTGGAGTGT	0.612																																						ENST00000358047.3																			0				breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						c.(790-792)gaG>gaT		family with sequence similarity 47, member C							57	53	54					X																	37027275		2202	4300	6502	SO:0001583	missense	442444							g.chrX:37027275G>T	AK125992	CCDS35227.1	Xp21.1	2006-07-04			ENSG00000198173	ENSG00000198173			25301	protein-coding gene	gene with protein product							Standard	NM_001013736		Approved		uc004ddl.2	Q5HY64	OTTHUMG00000024025	ENST00000358047.3:c.792G>T	X.37:g.37027275G>T	ENSP00000367913:p.Glu264Asp						p.E264D	NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN			1	844	+			264					Q6ZU46	Missense_Mutation	SNP	ENST00000358047.3	37	c.792G>T	CCDS35227.1	.	.	.	.	.	.	.	.	.	.	G	8.861	0.946885	0.18356	.	.	ENSG00000198173	ENST00000358047	T	0.13901	2.55	0.977	0.977	0.19733	.	.	.	.	.	T	0.07818	0.0196	L	0.43152	1.355	0.09310	N	1	P	0.34934	0.476	B	0.25140	0.058	T	0.33445	-0.9868	9	0.13470	T	0.59	.	3.9021	0.09166	0.3142:0.0:0.6858:0.0	.	264	Q5HY64	FA47C_HUMAN	D	264	ENSP00000367913:E264D	ENSP00000367913:E264D	E	+	3	2	FAM47C	36937196	0.005000	0.15991	0.092000	0.20876	0.093000	0.18481	0.048000	0.14078	0.278000	0.22164	0.282000	0.19409	GAG		0.612	FAM47C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060508.1	NM_001013736		9	58	1	0	0.00829132	1	0.00851541	9	58					T	37027275	G	T	37027275	3	4	249	1	0	0	0	0	1	0	0	0	5571	933	33	5	794	5	FAM47C	23	37027275	Missense_Mutation	SNP	G	TCGA-HC-A6HX-01A-11D-A31L-08		37027275	118243285	26	11703			1	28		2	2	101	N	G_C	9.044465e-05
FAM47C	442444	broad.mit.edu	37	chrX	37027375	37027375	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tatctcatctccatcgggagCctcctgagactggagtgcct	7	11	10	13	1	2	1	1	1	2	1	6	4	3	3	4	2	2	0	4	2	1	1			TCGA-HC-A6HX-01A-11D-A31L-08	TCGA-HC-A6HX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c58837d2-3931-4d77-87bd-24dbb7517c19	7c56bd41-657a-4710-a03e-7fd4e035847b	g.chrX:37027375C>T	ENST00000358047.3	+	1	944	c.892C>T	c.(892-894)Cct>Tct	p.P298S		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	298										breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						CCATCGGGAGCCTCCTGAGAC	0.592																																						ENST00000358047.3																			0				breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						c.(892-894)Cct>Tct		family with sequence similarity 47, member C							79	68	72					X																	37027375		2202	4300	6502	SO:0001583	missense	442444							g.chrX:37027375C>T	AK125992	CCDS35227.1	Xp21.1	2006-07-04			ENSG00000198173	ENSG00000198173			25301	protein-coding gene	gene with protein product							Standard	NM_001013736		Approved		uc004ddl.2	Q5HY64	OTTHUMG00000024025	ENST00000358047.3:c.892C>T	X.37:g.37027375C>T	ENSP00000367913:p.Pro298Ser						p.P298S	NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN			1	944	+			298					Q6ZU46	Missense_Mutation	SNP	ENST00000358047.3	37	c.892C>T	CCDS35227.1	.	.	.	.	.	.	.	.	.	.	c	11.37	1.618825	0.28801	.	.	ENSG00000198173	ENST00000358047	T	0.22134	1.97	0.932	-0.305	0.12784	.	.	.	.	.	T	0.28962	0.0719	L	0.42686	1.345	0.09310	N	1	D	0.60575	0.988	D	0.75484	0.986	T	0.16867	-1.0388	9	0.31617	T	0.26	.	3.4162	0.07376	0.0:0.3509:0.0:0.6491	.	298	Q5HY64	FA47C_HUMAN	S	298	ENSP00000367913:P298S	ENSP00000367913:P298S	P	+	1	0	FAM47C	36937296	0.000000	0.05858	0.009000	0.14445	0.009000	0.06853	0.069000	0.14552	0.171000	0.19730	0.173000	0.16961	CCT		0.592	FAM47C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060508.1	NM_001013736		15	57	0	0	0	1	0	15	57					T	37027375	C	T	37027375	3	4	249	1	0	0	0	0	1	0	0	0	5571	739	26	3	894	3	FAM47C	23	37027375	Missense_Mutation	SNP	C	TCGA-HC-A6HX-01A-11D-A31L-08	100	37027375	118243185	27	11704			1	28		2	2	101	N	G_C	9.044465e-05
PASD1	139135	broad.mit.edu	37	chrX	150828276	150828276	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttcaacttattgctccagtaCagttttcctggatactatgc	9	16	6	10	0	1	0	1	0	0	0	3	1	3	1	2	1	5	3	2	1	5	8			TCGA-HC-A6HX-01A-11D-A31L-08	TCGA-HC-A6HX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c58837d2-3931-4d77-87bd-24dbb7517c19	7c56bd41-657a-4710-a03e-7fd4e035847b	g.chrX:150828276C>G	ENST00000370357.4	+	10	1054	c.809C>G	c.(808-810)aCa>aGa	p.T270R		NM_173493.2	NP_775764.2	Q8IV76	PASD1_HUMAN	PAS domain containing 1	270						nucleus (GO:0005634)	signal transducer activity (GO:0004871)			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48	Acute lymphoblastic leukemia(192;6.56e-05)					TGCTCCAGTACAGTTTTCCTG	0.403																																						ENST00000370357.4																			0				breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48						c.(808-810)aCa>aGa		PAS domain containing 1							203	167	179					X																	150828276		2203	4300	6503	SO:0001583	missense	139135					nucleus	signal transducer activity	g.chrX:150828276C>G	AY270020	CCDS35431.1	Xq28	2009-08-06			ENSG00000166049	ENSG00000166049			20686	protein-coding gene	gene with protein product	"cancer/testis antigen 63"					15122589, 15162151	Standard	NM_173493		Approved	CT63	uc004fev.4	Q8IV76	OTTHUMG00000024169	ENST00000370357.4:c.809C>G	X.37:g.150828276C>G	ENSP00000359382:p.Thr270Arg						p.T270R	NM_173493.2	NP_775764.2	Q8IV76	PASD1_HUMAN			10	1054	+	Acute lymphoblastic leukemia(192;6.56e-05)		270					Q3MNE0|Q69HD7|Q8N7X9	Missense_Mutation	SNP	ENST00000370357.4	37	c.809C>G	CCDS35431.1	.	.	.	.	.	.	.	.	.	.	C	10.38	1.333564	0.24167	.	.	ENSG00000166049	ENST00000370357	T	0.68181	-0.31	3.61	-7.22	0.01485	.	.	.	.	.	T	0.44201	0.1282	L	0.27053	0.805	0.09310	N	1	P	0.49090	0.919	B	0.42827	0.399	T	0.44345	-0.9334	9	0.66056	D	0.02	.	1.4296	0.02331	0.1309:0.4306:0.2607:0.1778	.	270	Q8IV76	PASD1_HUMAN	R	270	ENSP00000359382:T270R	ENSP00000359382:T270R	T	+	2	0	PASD1	150578932	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-1.358000	0.02604	-1.710000	0.01397	0.600000	0.82982	ACA		0.403	PASD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060879.2	NM_173493		4	37	0	0	0	1	0	4	37					G	150828276	C	G	150828276	3	3	249	1	0	0	0	0	1	0	0	0	11471	478	17	5	843	5	PASD1	23	150828276	Missense_Mutation	SNP	C	TCGA-HC-A6HX-01A-11D-A31L-08	113800901	150828276	4442284	28	11705											
LRRC7	57554	broad.mit.edu	37	chr1	70504094	70504094	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtgttcccctggaactcgagCagtctacacacagacacaca	12	7	8	14	1	1	1	0	0	1	1	3	3	2	2	2	1	3	2	2	1	2	2			TCGA-HC-A6HY-01A-11D-A31L-08	TCGA-HC-A6HY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87d9162b-d9e0-48d2-817d-7a3fd2ab5cfe	69ff5580-dfde-4556-8960-ff3975b593be	g.chr1:70504094C>T	ENST00000035383.5	+	19	2503	c.2473C>T	c.(2473-2475)Cag>Tag	p.Q825*	LRRC7_ENST00000310961.5_Nonsense_Mutation_p.Q830*|LRRC7_ENST00000415775.2_Nonsense_Mutation_p.Q109*	NM_020794.2	NP_065845.1	Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	825						cell junction (GO:0030054)|cytoplasm (GO:0005737)|postsynaptic membrane (GO:0045211)				breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						GGAACTCGAGCAGTCTACACA	0.493																																						ENST00000310961.5																			0				breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						c.(2488-2490)Cag>Tag		leucine rich repeat containing 7							85	85	85					1																	70504094		2203	4300	6503	SO:0001587	stop_gained	57554					centrosome|focal adhesion|nucleolus	protein binding	g.chr1:70504094C>T		CCDS645.1	1p31.1	2008-02-05			ENSG00000033122	ENSG00000033122			18531	protein-coding gene	gene with protein product		614453				12525888	Standard	NM_020794		Approved	KIAA1365, densin-180	uc001dep.3	Q96NW7	OTTHUMG00000059194	ENST00000035383.5:c.2473C>T	1.37:g.70504094C>T	ENSP00000035383:p.Gln825*					LRRC7_ENST00000415775.2_Nonsense_Mutation_p.Q109*|LRRC7_ENST00000035383.5_Nonsense_Mutation_p.Q825*	p.Q830*			Q96NW7	LRRC7_HUMAN			22	2906	+			825					Q5VXC2|Q5VXC3|Q68D07|Q86VE8|Q8WX20|Q9P2I2	Nonsense_Mutation	SNP	ENST00000035383.5	37	c.2488C>T	CCDS645.1	.	.	.	.	.	.	.	.	.	.	C	48	14.110804	0.99780	.	.	ENSG00000033122	ENST00000310961;ENST00000035383;ENST00000415775;ENST00000370957	.	.	.	5.53	5.53	0.82687	.	0.130788	0.56097	D	0.000039	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05525	T	0.97	.	18.4553	0.90718	0.0:1.0:0.0:0.0	.	.	.	.	X	830;825;109;648	.	ENSP00000035383:Q825X	Q	+	1	0	LRRC7	70276682	1.000000	0.71417	1.000000	0.80357	0.824000	0.46624	5.604000	0.67626	2.614000	0.88457	0.467000	0.42956	CAG		0.493	LRRC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131261.1	NM_020794		30	45	0	0	0	1	0	30	45					T	70504094	C	T	70504094	4	4	250	1	0	0	0	0	0	1	0	0	9020	711	25	3	2547	3	LRRC7	1	70504094	Nonsense_Mutation	SNP	C	TCGA-HC-A6HY-01A-11D-A31L-08		70504094	178746527	1	11706											
LRRC8B	23507	broad.mit.edu	37	chr1	90048354	90048354	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccggagctctccagctgacgCagagcagggttctgtgctgt	6	9	14	12	2	2	2	0	1	2	1	3	3	2	3	2	2	4	6	2	2	0	1			TCGA-HC-A6HY-01A-11D-A31L-08	TCGA-HC-A6HY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87d9162b-d9e0-48d2-817d-7a3fd2ab5cfe	69ff5580-dfde-4556-8960-ff3975b593be	g.chr1:90048354C>T	ENST00000330947.2	+	5	505	c.145C>T	c.(145-147)Cag>Tag	p.Q49*	LRRC8B_ENST00000358200.4_Nonsense_Mutation_p.Q49*|RP5-1007M22.2_ENST00000443562.1_RNA|LRRC8B_ENST00000439853.1_Nonsense_Mutation_p.Q49*	NM_001134476.1	NP_001127948.1	Q6P9F7	LRC8B_HUMAN	leucine rich repeat containing 8 family, member B	49					ion transport (GO:0006811)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	26		all_lung(203;0.17)		all cancers(265;0.00515)|Epithelial(280;0.0241)		CCAGCTGACGCAGAGCAGGGT	0.507																																						ENST00000330947.2																			0				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	26						c.(145-147)Cag>Tag		leucine rich repeat containing 8 family, member B							113	96	102					1																	90048354		2203	4300	6503	SO:0001587	stop_gained	23507					integral to membrane		g.chr1:90048354C>T	AF385436	CCDS724.1	1p22.2	2008-02-05			ENSG00000197147	ENSG00000197147			30692	protein-coding gene	gene with protein product	"T cell activation leucine repeat rich protein"	612888				9039502	Standard	NM_015350		Approved	TA-LRRP, KIAA0231	uc001dni.3	Q6P9F7	OTTHUMG00000010129	ENST00000330947.2:c.145C>T	1.37:g.90048354C>T	ENSP00000332674:p.Gln49*					LRRC8B_ENST00000358200.4_Nonsense_Mutation_p.Q49*|LRRC8B_ENST00000439853.1_Nonsense_Mutation_p.Q49*	p.Q49*	NM_001134476.1	NP_001127948.1	Q6P9F7	LRC8B_HUMAN		all cancers(265;0.00515)|Epithelial(280;0.0241)	5	505	+		all_lung(203;0.17)	49					D3DT28|Q6UY21|Q8N106|Q92627	Nonsense_Mutation	SNP	ENST00000330947.2	37	c.145C>T	CCDS724.1	.	.	.	.	.	.	.	.	.	.	C	27.3	4.815833	0.90790	.	.	ENSG00000197147	ENST00000449440;ENST00000330947;ENST00000358200;ENST00000439853;ENST00000541858	.	.	.	5.29	4.32	0.51571	.	0.159305	0.43919	D	0.000501	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.26408	T	0.33	.	16.5333	0.84366	0.0:0.8696:0.1303:0.0	.	.	.	.	X	49	.	ENSP00000332674:Q49X	Q	+	1	0	LRRC8B	89820942	1.000000	0.71417	0.957000	0.39632	0.967000	0.64934	6.049000	0.71053	2.619000	0.88677	0.655000	0.94253	CAG		0.507	LRRC8B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028008.1	NM_015350		5	87	0	0	0	1	0	5	87					T	90048354	C	T	90048354	4	4	250	1	0	0	0	0	0	1	0	0	9022	711	25	3	147	3	LRRC8B	1	90048354	Nonsense_Mutation	SNP	C	TCGA-HC-A6HY-01A-11D-A31L-08	19544260	90048354	159202267	2	11707											
KIDINS220	57498	broad.mit.edu	37	chr2	8940605	8940605	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acatgaccacctctgacagcGccaatcaacacagtatcccc	13	6	5	17	1	2	2	1	2	1	0	3	2	3	2	5	0	2	1	5	0	3	1	rs371218344		TCGA-HC-A6HY-01A-11D-A31L-08	TCGA-HC-A6HY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87d9162b-d9e0-48d2-817d-7a3fd2ab5cfe	69ff5580-dfde-4556-8960-ff3975b593be	g.chr2:8940605G>A	ENST00000256707.3	-	9	1006	c.825C>T	c.(823-825)ggC>ggT	p.G275G	KIDINS220_ENST00000473731.1_Silent_p.G275G|KIDINS220_ENST00000319688.5_Silent_p.G276G|KIDINS220_ENST00000418530.1_Silent_p.G233G|KIDINS220_ENST00000427284.1_Silent_p.G275G	NM_020738.2	NP_065789.1	Q9ULH0	KDIS_HUMAN	kinase D-interacting substrate, 220kDa	275					activation of MAPKK activity (GO:0000186)|cellular response to nerve growth factor stimulus (GO:1990090)|cytoplasmic transport (GO:0016482)|dendrite morphogenesis (GO:0048813)|in utero embryonic development (GO:0001701)|nerve growth factor signaling pathway (GO:0038180)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of neuron projection development (GO:0010976)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|membrane (GO:0016020)|protein complex (GO:0043234)	PDZ domain binding (GO:0030165)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(25)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	60	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					CTCTGACAGCGCCAATCAACA	0.373																																						ENST00000256707.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(25)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	60						c.(823-825)ggC>ggT		kinase D-interacting substrate, 220kDa							176	178	177					2																	8940605		1903	4110	6013	SO:0001819	synonymous_variant	57498				activation of MAPKK activity|nerve growth factor receptor signaling pathway	cytosol|integral to membrane		g.chr2:8940605G>A	AK025528	CCDS42650.1	2p24	2013-01-10			ENSG00000134313	ENSG00000134313		"Ankyrin repeat domain containing"	29508	protein-coding gene	gene with protein product	"ankyrin repeat-rich membrane-spanning protein"	615759				10998417, 10574462	Standard	NM_020738		Approved	ARMS	uc002qzc.2	Q9ULH0	OTTHUMG00000151658	ENST00000256707.3:c.825C>T	2.37:g.8940605G>A						KIDINS220_ENST00000427284.1_Silent_p.G275G|KIDINS220_ENST00000319688.5_Silent_p.G276G|KIDINS220_ENST00000473731.1_Silent_p.G275G|KIDINS220_ENST00000418530.1_Silent_p.G233G	p.G275G	NM_020738.2	NP_065789.1	Q9ULH0	KDIS_HUMAN			9	1006	-	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		275					A1L4N4|Q4VC08|Q6MZU2|Q9H889|Q9H9E4|Q9NT37|Q9UF42	Silent	SNP	ENST00000256707.3	37	c.825C>T	CCDS42650.1																																																																																				0.373	KIDINS220-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323408.2	NM_020738		5	179	0	0	0	1	0	5	179					A	8940605	G	A	8940605	2	1	250	1	0	0	0	0	0	0	0	1	8271	1074	38	1		1	KIDINS220	2	8940605	Silent	SNP	G	TCGA-HC-A6HY-01A-11D-A31L-08		8940605	234258768	3	11708											
SNX17	9784	broad.mit.edu	37	chr2	27599352	27599352	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctcttcttccccaggagtcaCctgatgccacccgggagtct	6	10	9	16	1	4	1	1	1	3	0	5	3	5	3	5	2	1	0	5	2	0	2			TCGA-HC-A6HY-01A-11D-A31L-08	TCGA-HC-A6HY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87d9162b-d9e0-48d2-817d-7a3fd2ab5cfe	69ff5580-dfde-4556-8960-ff3975b593be	g.chr2:27599352C>T	ENST00000233575.2	+	14	1486	c.1264C>T	c.(1264-1266)Cct>Tct	p.P422S	SNX17_ENST00000543024.1_Missense_Mutation_p.P208S|SNX17_ENST00000542478.1_Missense_Mutation_p.P208S|ZNF513_ENST00000491924.1_5'Flank|SNX17_ENST00000537606.1_Missense_Mutation_p.P397S	NM_001267059.1|NM_001267061.1|NM_014748.3	NP_001253988.1|NP_001253990.1|NP_055563.1	Q15036	SNX17_HUMAN	sorting nexin 17	422	FERM-like.|PTB-like F3 module.				cholesterol catabolic process (GO:0006707)|endosomal transport (GO:0016197)|intracellular protein transport (GO:0006886)|receptor-mediated endocytosis (GO:0006898)|regulation of endocytosis (GO:0030100)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|early endosome (GO:0005769)|endosome (GO:0005768)|endosome membrane (GO:0010008)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|protein complex (GO:0043234)	low-density lipoprotein particle receptor binding (GO:0050750)|phosphatidylinositol binding (GO:0035091)|protein C-terminus binding (GO:0008022)|receptor binding (GO:0005102)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)	14	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCAGGAGTCACCTGATGCCAC	0.547																																						ENST00000233575.2																			0				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)	14						c.(1264-1266)Cct>Tct		sorting nexin 17							162	151	155					2																	27599352		2203	4300	6503	SO:0001583	missense	9784				cell communication|endosome transport|intracellular protein transport|regulation of endocytosis|signal transduction	cytoplasmic vesicle membrane|cytosol|early endosome|Golgi apparatus	low-density lipoprotein particle receptor binding|phosphatidylinositol binding|protein C-terminus binding	g.chr2:27599352C>T	D31764	CCDS1750.1, CCDS58704.1	2p23-p22	2008-05-21			ENSG00000115234	ENSG00000115234		"Sorting nexins"	14979	protein-coding gene	gene with protein product		605963				12169628, 15769472	Standard	NM_014748		Approved	KIAA0064	uc002rkg.2	Q15036	OTTHUMG00000097781	ENST00000233575.2:c.1264C>T	2.37:g.27599352C>T	ENSP00000233575:p.Pro422Ser					SNX17_ENST00000543024.1_Missense_Mutation_p.P208S|SNX17_ENST00000537606.1_Missense_Mutation_p.P397S|SNX17_ENST00000542478.1_Missense_Mutation_p.P208S	p.P422S	NM_001267059.1|NM_001267061.1|NM_014748.3	NP_001253988.1|NP_001253990.1|NP_055563.1	Q15036	SNX17_HUMAN			14	1486	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		422					B4DQM7|Q53HN7|Q6IAS3	Missense_Mutation	SNP	ENST00000233575.2	37	c.1264C>T	CCDS1750.1	.	.	.	.	.	.	.	.	.	.	C	17.65	3.442166	0.63067	.	.	ENSG00000115234	ENST00000233575;ENST00000543024;ENST00000537606;ENST00000542478	T;T;T;T	0.30448	1.96;1.53;1.55;1.53	5.36	5.36	0.76844	.	0.000000	0.85682	D	0.000000	T	0.40040	0.1101	N	0.25144	0.715	0.80722	D	1	D;D;D;B	0.89917	1.0;1.0;1.0;0.03	D;D;D;B	0.79108	0.992;0.992;0.992;0.019	T	0.05419	-1.0886	10	0.13108	T	0.6	-9.1624	17.8169	0.88637	0.0:1.0:0.0:0.0	.	397;410;402;422	B4DQM7;B4DTB8;B4DQ37;Q15036	.;.;.;SNX17_HUMAN	S	422;208;397;208	ENSP00000233575:P422S;ENSP00000441779:P208S;ENSP00000439208:P397S;ENSP00000442567:P208S	ENSP00000233575:P422S	P	+	1	0	SNX17	27452856	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	5.338000	0.65947	2.797000	0.96272	0.561000	0.74099	CCT		0.547	SNX17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215024.1	NM_014748		32	99	0	0	0	1	0	32	99					T	27599352	C	T	27599352	3	4	250	1	0	0	0	0	1	0	0	0	14888	507	18	3	1318	3	SNX17	2	27599352	Missense_Mutation	SNP	C	TCGA-HC-A6HY-01A-11D-A31L-08	18658747	27599352	215600021	4	11709											
TTN	7273	broad.mit.edu	37	chr2	179584367	179584367	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	atcctttgtcactcatttcgGcacaggggattttaagggaa	10	13	10	8	1	2	0	2	0	0	0	4	2	3	2	1	4	0	1	1	4	2	4			TCGA-HC-A6HY-01A-11D-A31L-08	TCGA-HC-A6HY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87d9162b-d9e0-48d2-817d-7a3fd2ab5cfe	69ff5580-dfde-4556-8960-ff3975b593be	g.chr2:179584367G>T	ENST00000591111.1	-	80	23125	c.22901C>A	c.(22900-22902)gCc>gAc	p.A7634D	TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.A6707D|TTN_ENST00000342175.6_Intron|TTN_ENST00000589042.1_Missense_Mutation_p.A7951D|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA			Q8WZ42	TITIN_HUMAN	titin	13184	Ig-like 58.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ACTCATTTCGGCACAGGGGAT	0.408																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(23851-23853)gCc>gAc		titin							168	161	163					2																	179584367		1871	4109	5980	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179584367G>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.22901C>A	2.37:g.179584367G>T	ENSP00000465570:p.Ala7634Asp					TTN_ENST00000342992.6_Missense_Mutation_p.A6707D|TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.A7634D	p.A7951D	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		82	24076	-			7634			Ig-like 62.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.23852C>A		.	.	.	.	.	.	.	.	.	.	G	11.03	1.519893	0.27211	.	.	ENSG00000155657	ENST00000342992	T	0.71103	-0.54	6.08	4.3	0.51218	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.81875	0.4915	M	0.92784	3.345	0.80722	D	1	P	0.35363	0.497	P	0.44623	0.455	D	0.83674	0.0168	9	0.87932	D	0	.	12.7567	0.57339	0.1317:0.0:0.8683:0.0	.	7634	Q8WZ42	TITIN_HUMAN	D	6707	ENSP00000343764:A6707D	ENSP00000343764:A6707D	A	-	2	0	TTN	179292612	1.000000	0.71417	0.956000	0.39512	0.947000	0.59692	4.699000	0.61796	0.917000	0.36895	-0.140000	0.14226	GCC		0.408	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		5	117	1	0	0.000602214	1	0.000602214	5	117					T	179584367	G	T	179584367	3	4	250	1	0	0	0	0	1	0	0	0	16732	1203	42	5	80801	5	TTN	2	179584367	Missense_Mutation	SNP	G	TCGA-HC-A6HY-01A-11D-A31L-08	151985015	179584367	63615006	5	11710											
TTN	7273	broad.mit.edu	37	chr2	179623770	179623770	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcattactagcaacaaacGtgtaagttccttcatcttct	12	13	5	11	1	3	0	1	0	2	0	4	0	4	0	1	0	5	4	1	0	5	6			TCGA-HC-A6HY-01A-11D-A31L-08	TCGA-HC-A6HY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87d9162b-d9e0-48d2-817d-7a3fd2ab5cfe	69ff5580-dfde-4556-8960-ff3975b593be	g.chr2:179623770G>A	ENST00000591111.1	-	44	10468	c.10244C>T	c.(10243-10245)aCg>aTg	p.T3415M	TTN_ENST00000359218.5_Missense_Mutation_p.T3369M|TTN_ENST00000342992.6_Missense_Mutation_p.T3415M|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.T3369M|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.T3415M|TTN_ENST00000360870.5_Missense_Mutation_p.T3415M|TTN_ENST00000460472.2_Missense_Mutation_p.T3369M|TTN-AS1_ENST00000610005.1_RNA|TTN-AS1_ENST00000585451.1_RNA			Q8WZ42	TITIN_HUMAN	titin	13731	Ig-like 20.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AGCAACAAACGTGTAAGTTCC	0.383																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(10243-10245)aCg>aTg		titin							144	131	135					2																	179623770		2203	4300	6503	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179623770G>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.10244C>T	2.37:g.179623770G>A	ENSP00000465570:p.Thr3415Met					TTN_ENST00000360870.5_Missense_Mutation_p.T3415M|TTN_ENST00000342992.6_Missense_Mutation_p.T3415M|TTN_ENST00000342175.6_Missense_Mutation_p.T3369M|TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.T3369M|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.T3369M|TTN_ENST00000591111.1_Missense_Mutation_p.T3415M	p.T3415M	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		44	10468	-			3128			Ig-like 20.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.10244C>T		.	.	.	.	.	.	.	.	.	.	G	15.72	2.915858	0.52546	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127;ENST00000360870;ENST00000446208	T;T;T;T;T	0.70516	-0.49;-0.49;-0.49;-0.49;-0.49	5.92	5.92	0.95590	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.84279	0.5437	M	0.75264	2.295	0.29602	N	0.847607	P;P;D;D;D	0.89917	0.841;0.841;0.994;0.977;1.0	P;P;P;P;D	0.63703	0.643;0.643;0.714;0.714;0.917	T	0.80714	-0.1259	9	0.87932	D	0	.	20.3214	0.98679	0.0:0.0:1.0:0.0	.	3369;3369;3369;3415;3415	D3DPF9;E7EQE6;E7ET18;Q8WZ42;Q8WZ42-6	.;.;.;TITIN_HUMAN;.	M	3415;3369;3369;3369;3369;3415;20	ENSP00000343764:T3415M;ENSP00000434586:T3369M;ENSP00000340554:T3369M;ENSP00000352154:T3369M;ENSP00000354117:T3415M	ENSP00000340554:T3369M	T	-	2	0	TTN	179332015	1.000000	0.71417	0.976000	0.42696	0.963000	0.63663	7.822000	0.86651	2.804000	0.96469	0.655000	0.94253	ACG		0.383	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		19	52	0	0	0	1	0	19	52					A	179623770	G	A	179623770	3	1	250	1	0	0	0	0	1	0	0	0	16732	1145	40	1	101020	1	TTN	2	179623770	Missense_Mutation	SNP	G	TCGA-HC-A6HY-01A-11D-A31L-08	39403	179623770	63575603	6	11711											
KLHL30	377007	broad.mit.edu	37	chr2	239049642	239049642	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcgggacgtggagcccgccGtggtgggacaactggtggac	6	6	19	10	4	0	0	0	0	0	0	0	4	0	4	2	6	3	0	2	6	1	0	rs201253372	byFrequency	TCGA-HC-A6HY-01A-11D-A31L-08	TCGA-HC-A6HY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87d9162b-d9e0-48d2-817d-7a3fd2ab5cfe	69ff5580-dfde-4556-8960-ff3975b593be	g.chr2:239049642G>C	ENST00000409223.1	+	2	354	c.247G>C	c.(247-249)Gtg>Ctg	p.V83L	KLHL30_ENST00000305959.4_Missense_Mutation_p.V65L			Q0D2K2	KLH30_HUMAN	kelch-like family member 30	83	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.									lung(4)	4		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;4.71e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.02e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.63e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000109)|Lung(119;0.0108)|LUSC - Lung squamous cell carcinoma(224;0.0253)		GGAGCCCGCCGTGGTGGGACA	0.672																																						ENST00000409223.1																			0				lung(4)	4						c.(247-249)Gtg>Ctg		kelch-like family member 30							92	108	103					2																	239049642		2180	4256	6436	SO:0001583	missense	377007							g.chr2:239049642G>C		CCDS46555.1, CCDS46555.2	2q37.3	2013-02-22	2013-02-22		ENSG00000168427	ENSG00000168427		"Kelch-like", "BTB/POZ domain containing"	24770	protein-coding gene	gene with protein product			"kelch-like 30 (Drosophila)"				Standard	NM_198582		Approved	FLJ43374	uc002vxr.2	Q0D2K2	OTTHUMG00000152905	ENST00000409223.1:c.247G>C	2.37:g.239049642G>C	ENSP00000386389:p.Val83Leu					KLHL30_ENST00000305959.4_Missense_Mutation_p.V65L	p.V83L			Q0D2K2	KLH30_HUMAN		Epithelial(121;4.71e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.02e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.63e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000109)|Lung(119;0.0108)|LUSC - Lung squamous cell carcinoma(224;0.0253)	2	354	+		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)	83			BTB.		Q6ZUS1	Missense_Mutation	SNP	ENST00000409223.1	37	c.247G>C	CCDS46555.2	.	.	.	.	.	.	.	.	.	.	G	7.010	0.556526	0.13436	.	.	ENSG00000168427	ENST00000409223;ENST00000305959	T;T	0.69435	-0.4;-0.4	5.75	-0.349	0.12609	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.786910	0.12079	N	0.501498	T	0.65790	0.2725	M	0.73962	2.25	0.09310	N	1	B	0.27823	0.19	B	0.32465	0.146	T	0.59904	-0.7366	10	0.49607	T	0.09	.	10.6955	0.45896	0.3965:0.0:0.6035:0.0	.	83	Q0D2K2	KLH30_HUMAN	L	83;65	ENSP00000386389:V83L;ENSP00000302386:V65L	ENSP00000302386:V65L	V	+	1	0	KLHL30	238714381	0.040000	0.19996	0.012000	0.15200	0.174000	0.22865	1.511000	0.35801	-0.105000	0.12132	-0.136000	0.14681	GTG		0.672	KLHL30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328518.1	NM_198582		59	136	0	0	0	1	0	59	136					C	239049642	G	C	239049642	3	2	250	1	0	0	0	0	1	0	0	0	8384	1145	40	5	249	5	KLHL30	2	239049642	Missense_Mutation	SNP	G	TCGA-HC-A6HY-01A-11D-A31L-08	59425872	239049642	4149731	7	11712											
RAP2B	5912	broad.mit.edu	37	chr3	152880765	152880765	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	agagcttccaggacatcaagCccatgcgggaccagatcatc	12	6	10	13	1	2	2	2	0	0	2	4	4	3	4	3	2	3	1	3	2	1	1			TCGA-HC-A6HY-01A-11D-A31L-08	TCGA-HC-A6HY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87d9162b-d9e0-48d2-817d-7a3fd2ab5cfe	69ff5580-dfde-4556-8960-ff3975b593be	g.chr3:152880765C>A	ENST00000323534.2	+	1	737	c.283C>A	c.(283-285)Ccc>Acc	p.P95T	RP11-529G21.2_ENST00000487827.1_RNA	NM_002886.2	NP_002877.2	P61225	RAP2B_HUMAN	RAP2B, member of RAS oncogene family	95					GTP catabolic process (GO:0006184)|negative regulation of cell migration (GO:0030336)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|positive regulation of protein autophosphorylation (GO:0031954)|Rap protein signal transduction (GO:0032486)|regulation of protein tyrosine kinase activity (GO:0061097)|signal transduction (GO:0007165)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|recycling endosome membrane (GO:0055038)	GDP binding (GO:0019003)|GTP binding (GO:0005525)			NS(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)	7			LUSC - Lung squamous cell carcinoma(72;0.0628)|Lung(72;0.11)			GGACATCAAGCCCATGCGGGA	0.612																																						ENST00000323534.2																			0				NS(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)	7						c.(283-285)Ccc>Acc		RAP2B, member of RAS oncogene family							102	90	94					3																	152880765		2203	4300	6503	SO:0001583	missense	5912				Rap protein signal transduction|regulation of protein tyrosine kinase activity	recycling endosome membrane	GTP binding|GTPase activity	g.chr3:152880765C>A		CCDS3170.1	3q25.2	2014-05-09			ENSG00000181467	ENSG00000181467			9862	protein-coding gene	gene with protein product	"Ras-related protein RAP-2B", "small GTP binding protein", "Ras family small GTP binding protein RAP2B"	179541				2118648	Standard	NM_002886		Approved		uc003ezr.3	P61225	OTTHUMG00000159655	ENST00000323534.2:c.283C>A	3.37:g.152880765C>A	ENSP00000319096:p.Pro95Thr						p.P95T	NM_002886.2	NP_002877.2	P61225	RAP2B_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0628)|Lung(72;0.11)		1	737	+			95					P17964|Q96EG5|Q9CXG0	Missense_Mutation	SNP	ENST00000323534.2	37	c.283C>A	CCDS3170.1	.	.	.	.	.	.	.	.	.	.	C	11.69	1.712635	0.30413	.	.	ENSG00000181467	ENST00000323534	T	0.75704	-0.96	4.53	4.53	0.55603	Small GTP-binding protein domain (1);	0.000000	0.64402	U	0.000001	T	0.65657	0.2712	N	0.03930	-0.32	0.80722	D	1	D	0.55605	0.972	P	0.61003	0.882	T	0.63717	-0.6574	10	0.10636	T	0.68	.	16.0121	0.80409	0.0:1.0:0.0:0.0	.	95	P61225	RAP2B_HUMAN	T	95	ENSP00000319096:P95T	ENSP00000319096:P95T	P	+	1	0	RAP2B	154363455	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.777000	0.68931	2.324000	0.78689	0.563000	0.77884	CCC		0.612	RAP2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356707.1	NM_002886		4	92	1	0	0.00024832	1	0.000254528	4	92					A	152880765	C	A	152880765	3	1	250	1	0	0	0	0	1	0	0	0	13041	739	26	5	285	5	RAP2B	3	152880765	Missense_Mutation	SNP	C	TCGA-HC-A6HY-01A-11D-A31L-08		152880765	45141665	8	11713											
GABRG1	2565	broad.mit.edu	37	chr4	46067417	46067417	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctcgtccatcattccaaattCgaagcagacgattaggagtt	12	11	8	10	3	1	1	1	0	0	1	5	4	3	2	2	1	1	2	2	1	3	4			TCGA-HC-A6HY-01A-11D-A31L-08	TCGA-HC-A6HY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87d9162b-d9e0-48d2-817d-7a3fd2ab5cfe	69ff5580-dfde-4556-8960-ff3975b593be	g.chr4:46067417C>T	ENST00000295452.4	-	4	673	c.506G>A	c.(505-507)cGa>cAa	p.R169Q		NM_173536.3	NP_775807.2	Q8N1C3	GBRG1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 1	169					gamma-aminobutyric acid signaling pathway (GO:0007214)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	76				Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	ATTCCAAATTCGAAGCAGACG	0.323																																						ENST00000295452.4																			0				breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	76						c.(505-507)cGa>cAa		gamma-aminobutyric acid (GABA) A receptor, gamma 1							85	84	84					4																	46067417		2203	4300	6503	SO:0001583	missense	2565				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity	g.chr4:46067417C>T	BC031087	CCDS3470.1	4p12	2012-06-22			ENSG00000163285	ENSG00000163285		"GABA receptors", "Ligand-gated ion channels / GABA(A) receptors"	4086	protein-coding gene	gene with protein product	"GABA(A) receptor, gamma"	137166				1321425	Standard	NM_173536		Approved		uc003gxb.3	Q8N1C3	OTTHUMG00000128609	ENST00000295452.4:c.506G>A	4.37:g.46067417C>T	ENSP00000295452:p.Arg169Gln						p.R169Q	NM_173536.3	NP_775807.2	Q8N1C3	GBRG1_HUMAN		Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23)	4	673	-			169					Q5H9T8	Missense_Mutation	SNP	ENST00000295452.4	37	c.506G>A	CCDS3470.1	.	.	.	.	.	.	.	.	.	.	C	36	5.608946	0.96637	.	.	ENSG00000163285	ENST00000295452;ENST00000540030	T	0.79033	-1.23	5.08	5.08	0.68730	Neurotransmitter-gated ion-channel ligand-binding (3);	0.000000	0.85682	D	0.000000	D	0.86100	0.5852	M	0.85462	2.755	0.80722	D	1	P	0.51147	0.942	P	0.51974	0.686	D	0.88841	0.3312	10	0.87932	D	0	.	17.8218	0.88652	0.0:1.0:0.0:0.0	.	169	Q8N1C3	GBRG1_HUMAN	Q	169	ENSP00000295452:R169Q	ENSP00000295452:R169Q	R	-	2	0	GABRG1	45762174	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	7.759000	0.85235	2.513000	0.84729	0.508000	0.49915	CGA		0.323	GABRG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250470.1	NM_173536		21	33	0	0	0	1	0	21	33					T	46067417	C	T	46067417	3	4	250	1	0	0	0	0	1	0	0	0	6171	884	31	2	915	2	GABRG1	4	46067417	Missense_Mutation	SNP	C	TCGA-HC-A6HY-01A-11D-A31L-08		46067417	145086859	9	11714											
DCHS2	54798	broad.mit.edu	37	chr4	155298502	155298502	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcccatcatgagggtcgatcCggaatgcctgaggtgcttca	8	9	13	11	2	2	2	2	2	0	0	4	4	3	3	3	3	2	1	3	3	1	1	rs571144811		TCGA-HC-A6HY-01A-11D-A31L-08	TCGA-HC-A6HY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87d9162b-d9e0-48d2-817d-7a3fd2ab5cfe	69ff5580-dfde-4556-8960-ff3975b593be	g.chr4:155298502C>T	ENST00000357232.4	-	3	328	c.329G>A	c.(328-330)cGg>cAg	p.R110Q	DCHS2_ENST00000339452.1_Missense_Mutation_p.R716Q	NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	110	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		AGGGTCGATCCGGAATGCCTG	0.468													C|||	1	0.000199681	0	0	5008	,	,		20467	0		0	False		,,,				2504	0.001					ENST00000357232.3																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176						c.(328-330)cGg>cAg		dachsous cadherin-related 2							123	114	117					4																	155298502		2203	4300	6503	SO:0001583	missense	54798				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:155298502C>T	BC140919	CCDS3785.1, CCDS47150.1	4q32.1	2014-06-04	2013-10-04	2004-09-03		ENSG00000197410		"Cadherins / Cadherin-related"	23111	protein-coding gene	gene with protein product	"cadherin-related family member 7"	612486	"cadherin-like 27", "dachsous 2 (Drosophila)"	CDH27, PCDH23		15003449	Standard	NM_017639		Approved	CDHJ, FLJ20047, PCDHJ, CDHR7	uc003inw.2	Q6V1P9		ENST00000357232.4:c.329G>A	4.37:g.155298502C>T	ENSP00000349768:p.Arg110Gln					DCHS2_ENST00000339452.1_Missense_Mutation_p.R716Q	p.R110Q	NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN		LUSC - Lung squamous cell carcinoma(193;0.107)	3	328	-	all_hematologic(180;0.208)	Renal(120;0.0854)	110			Cadherin 1.		B2RU14|E9PC11|Q4W5P9|Q6ZS61|Q9NXU8	Missense_Mutation	SNP	ENST00000357232.4	37	c.329G>A	CCDS3785.1	.	.	.	.	.	.	.	.	.	.	C	4.815	0.151457	0.09185	.	.	ENSG00000197410	ENST00000357232;ENST00000339452;ENST00000544161	T;T	0.54675	0.56;0.56	5.64	-2.3	0.06785	Cadherin (5);Cadherin-like (1);	1.121600	0.06748	N	0.779490	T	0.22205	0.0535	N	0.04335	-0.225	0.80722	D	1	B;B	0.11235	0.004;0.0	B;B	0.04013	0.001;0.001	T	0.38222	-0.9671	10	0.09590	T	0.72	.	2.8556	0.05571	0.1069:0.1868:0.1096:0.5967	.	716;110	E9PC11;Q6V1P9	.;PCD23_HUMAN	Q	110;716;716	ENSP00000349768:R110Q;ENSP00000345062:R716Q	ENSP00000345062:R716Q	R	-	2	0	DCHS2	155517952	0.542000	0.26426	0.144000	0.22314	0.377000	0.30045	0.016000	0.13377	-0.640000	0.05495	-0.254000	0.11334	CGG		0.468	DCHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365281.2	NM_001142552		29	59	0	0	0	1	0	29	59					T	155298502	C	T	155298502	3	4	250	1	0	0	0	0	1	0	0	0	4288	652	23	2	8609	2	DCHS2	4	155298502	Missense_Mutation	SNP	C	TCGA-HC-A6HY-01A-11D-A31L-08	109231085	155298502	35855774	10	11715											
HEATR7B2	133558	broad.mit.edu	37	chr5	41048479	41048479	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttttccataggtctaccaatTttgggtgaattatctcaggc	9	16	8	8	0	2	1	1	1	2	0	4	1	3	1	2	3	1	0	2	3	5	7			TCGA-HC-A6HY-01A-11D-A31L-08	TCGA-HC-A6HY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87d9162b-d9e0-48d2-817d-7a3fd2ab5cfe	69ff5580-dfde-4556-8960-ff3975b593be	g.chr5:41048479T>C	ENST00000399564.4	-	16	2081	c.1631A>G	c.(1630-1632)aAa>aGa	p.K544R	MROH2B_ENST00000506092.2_Missense_Mutation_p.K99R	NM_173489.4	NP_775760.3	Q7Z745	MRO2B_HUMAN	maestro heat-like repeat family member 2B	544																	GTCTACCAATTTTGGGTGAAT	0.478																																						ENST00000399564.4																			0											c.(1630-1632)aAa>aGa		maestro heat-like repeat family member 2B							144	134	137					5																	41048479		1877	4112	5989	SO:0001583	missense	133558							g.chr5:41048479T>C		CCDS47202.1	5p13.1	2012-12-19	2012-12-19	2012-12-19	ENSG00000171495	ENSG00000171495		"maestro heat-like repeat containing"	26857	protein-coding gene	gene with protein product			"HEAT repeat family member 7B2"	HEATR7B2		12477932	Standard	NM_173489		Approved	DKFZp781F0822, FLJ40243	uc003jmj.4	Q7Z745	OTTHUMG00000162151	ENST00000399564.4:c.1631A>G	5.37:g.41048479T>C	ENSP00000382476:p.Lys544Arg					MROH2B_ENST00000506092.2_Missense_Mutation_p.K99R	p.K544R	NM_173489.4	NP_775760.3					16	2081	-								Q68DM1|Q7Z4U4|Q8N7X3	Missense_Mutation	SNP	ENST00000399564.4	37	c.1631A>G	CCDS47202.1	.	.	.	.	.	.	.	.	.	.	T	9.391	1.075570	0.20227	.	.	ENSG00000171495	ENST00000506092;ENST00000296803;ENST00000399564	T;T	0.07800	3.16;3.16	4.87	3.69	0.42338	Armadillo-type fold (1);	0.410761	0.23581	N	0.046641	T	0.06781	0.0173	L	0.36672	1.1	0.28520	N	0.913124	B	0.30281	0.275	B	0.31337	0.128	T	0.28964	-1.0027	10	0.15952	T	0.53	.	8.7434	0.34571	0.0:0.0:0.1918:0.8082	.	544	Q7Z745	HTRB2_HUMAN	R	99;248;544	ENSP00000441504:K99R;ENSP00000382476:K544R	ENSP00000296803:K248R	K	-	2	0	HEATR7B2	41084236	0.562000	0.26586	0.925000	0.36789	0.878000	0.50629	2.021000	0.41020	0.968000	0.38212	-0.313000	0.08912	AAA		0.478	MROH2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367558.2	NM_173489		5	76	0	0	0	1	0	5	76					C	41048479	T	C	41048479	3	2	250	1	0	0	0	0	1	0	0	0	7035	1841	64	4	3234	4	HEATR7B2	5	41048479	Missense_Mutation	SNP	T	TCGA-HC-A6HY-01A-11D-A31L-08		41048479	139866781	11	11716											
TGFBI	7045	broad.mit.edu	37	chr5	135390426	135390426	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tggaacccctccaattgatgCccatacaaggaatttgcttc	11	11	7	12	0	0	1	0	1	0	0	2	3	1	3	4	2	4	1	4	2	5	4			TCGA-HC-A6HY-01A-11D-A31L-08	TCGA-HC-A6HY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87d9162b-d9e0-48d2-817d-7a3fd2ab5cfe	69ff5580-dfde-4556-8960-ff3975b593be	g.chr5:135390426C>T	ENST00000442011.2	+	10	1447	c.1286C>T	c.(1285-1287)gCc>gTc	p.A429V	TGFBI_ENST00000305126.8_Missense_Mutation_p.A429V	NM_000358.2	NP_000349.1	Q15582	BGH3_HUMAN	transforming growth factor, beta-induced, 68kDa	429	FAS1 3. {ECO:0000255|PROSITE- ProRule:PRU00082}.				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|chondrocyte differentiation (GO:0002062)|extracellular matrix organization (GO:0030198)|negative regulation of cell adhesion (GO:0007162)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	collagen binding (GO:0005518)|extracellular matrix binding (GO:0050840)|integrin binding (GO:0005178)			breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			CCAATTGATGCCCATACAAGG	0.453																																						ENST00000442011.2																			0				breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32						c.(1285-1287)gCc>gTc		transforming growth factor, beta-induced, 68kDa							238	231	233					5																	135390426		1876	4115	5991	SO:0001583	missense	7045				angiogenesis|cell adhesion|cell proliferation|negative regulation of cell adhesion|response to stimulus|visual perception	extracellular space|proteinaceous extracellular matrix	integrin binding	g.chr5:135390426C>T	M77349	CCDS47266.1	5q31	2008-02-05	2002-08-29		ENSG00000120708	ENSG00000120708			11771	protein-coding gene	gene with protein product		601692	"transforming growth factor, beta-induced, 68kD"	CSD3, LCD1, CSD1, CSD2		9463327	Standard	NM_000358		Approved	BIGH3, CDB1, CDGG1	uc003lbf.4	Q15582	OTTHUMG00000163213	ENST00000442011.2:c.1286C>T	5.37:g.135390426C>T	ENSP00000416330:p.Ala429Val					TGFBI_ENST00000305126.8_Missense_Mutation_p.A429V	p.A429V	NM_000358.2	NP_000349.1	Q15582	BGH3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)		10	1447	+			429			FAS1 3.		D3DQB1|O14471|O14472|O14476|O43216|O43217|O43218|O43219|Q53XM1	Missense_Mutation	SNP	ENST00000442011.2	37	c.1286C>T	CCDS47266.1	.	.	.	.	.	.	.	.	.	.	C	12.80	2.046816	0.36085	.	.	ENSG00000120708	ENST00000442011;ENST00000398813;ENST00000305126	D;D	0.90955	-2.76;-2.76	5.83	2.86	0.33363	FAS1 domain (5);	0.394451	0.29980	N	0.010705	D	0.88537	0.6463	L	0.58101	1.795	0.09310	N	1	B;B	0.29590	0.25;0.196	B;B	0.36719	0.231;0.165	T	0.78861	-0.2037	10	0.33940	T	0.23	-9.9639	11.0385	0.47816	0.1129:0.4086:0.4784:0.0	.	162;429	B9ZVW9;Q15582	.;BGH3_HUMAN	V	429;162;429	ENSP00000416330:A429V;ENSP00000306306:A429V	ENSP00000306306:A429V	A	+	2	0	TGFBI	135418325	0.007000	0.16637	0.220000	0.23810	0.025000	0.11179	-0.006000	0.12833	0.764000	0.33197	0.655000	0.94253	GCC		0.453	TGFBI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372108.1			5	333	0	0	0	1	0	5	333					T	135390426	C	T	135390426	3	4	250	1	0	0	0	0	1	0	0	0	15817	739	26	3	1324	3	TGFBI	5	135390426	Missense_Mutation	SNP	C	TCGA-HC-A6HY-01A-11D-A31L-08	94341947	135390426	45524834	12	11717											
KLC4	89953	broad.mit.edu	37	chr6	43038170	43038170	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aggcagagcctctgtgccagCgggcactggagattcgagaa	10	6	15	10	2	1	3	0	0	1	3	2	5	1	3	2	3	3	2	2	3	1	1			TCGA-HC-A6HY-01A-11D-A31L-08	TCGA-HC-A6HY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87d9162b-d9e0-48d2-817d-7a3fd2ab5cfe	69ff5580-dfde-4556-8960-ff3975b593be	g.chr6:43038170C>T	ENST00000394056.2	+	8	1453	c.958C>T	c.(958-960)Cgg>Tgg	p.R320W	KLC4_ENST00000347162.5_Missense_Mutation_p.R320W|KLC4_ENST00000259708.3_Missense_Mutation_p.R338W|KLC4_ENST00000394058.1_Missense_Mutation_p.R320W|KLC4_ENST00000453940.2_Missense_Mutation_p.R243W|KLC4_ENST00000479388.1_Missense_Mutation_p.R320W			Q9NSK0	KLC4_HUMAN	kinesin light chain 4	320						cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	microtubule motor activity (GO:0003777)			endometrium(2)|large_intestine(7)|lung(5)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(4)	23			all cancers(41;0.00169)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|OV - Ovarian serous cystadenocarcinoma(102;0.0376)|KIRC - Kidney renal clear cell carcinoma(2;0.0453)			TCTGTGCCAGCGGGCACTGGA	0.557											OREG0017448	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000394056.2																			0				endometrium(2)|large_intestine(7)|lung(5)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(4)	23						c.(958-960)Cgg>Tgg		kinesin light chain 4							83	73	76					6																	43038170		2203	4300	6503	SO:0001583	missense	89953					cytoplasm|kinesin complex|microtubule	microtubule motor activity|protein binding	g.chr6:43038170C>T	AK055293	CCDS4882.1, CCDS4883.1, CCDS47429.1, CCDS75459.1	6p21.1	2013-01-10	2005-09-13	2005-09-13	ENSG00000137171	ENSG00000137171		"Tetratricopeptide (TTC) repeat domain containing"	21624	protein-coding gene	gene with protein product			"kinesin-like 8"	KNSL8			Standard	NM_001289034		Approved	bA387M24.3	uc003otw.1	Q9NSK0	OTTHUMG00000014720	ENST00000394056.2:c.958C>T	6.37:g.43038170C>T	ENSP00000377620:p.Arg320Trp		OREG0017448	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	913	KLC4_ENST00000347162.5_Missense_Mutation_p.R320W|KLC4_ENST00000453940.2_Missense_Mutation_p.R243W|KLC4_ENST00000479388.1_Missense_Mutation_p.R320W|KLC4_ENST00000394058.1_Missense_Mutation_p.R320W|KLC4_ENST00000259708.3_Missense_Mutation_p.R338W	p.R320W			Q9NSK0	KLC4_HUMAN	all cancers(41;0.00169)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|OV - Ovarian serous cystadenocarcinoma(102;0.0376)|KIRC - Kidney renal clear cell carcinoma(2;0.0453)		8	1453	+			320					B3KNY4|B3KPI3|B3KSQ3|B4DME9|Q66K28|Q96EG6	Missense_Mutation	SNP	ENST00000394056.2	37	c.958C>T	CCDS4883.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.164383	0.78339	.	.	ENSG00000137171	ENST00000347162;ENST00000453940;ENST00000259708;ENST00000479388;ENST00000394056;ENST00000394058	D;D;D;D;D;D	0.94966	-3.57;-3.57;-3.57;-3.57;-3.57;-3.57	5.81	4.93	0.64822	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.64402	D	0.000015	D	0.97952	0.9326	H	0.96604	3.85	0.58432	D	0.999997	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.998;0.998	D	0.99084	1.0838	10	0.87932	D	0	-13.1537	13.8188	0.63308	0.298:0.702:0.0:0.0	.	243;338;320	B4DME9;Q9NSK0-3;Q9NSK0	.;.;KLC4_HUMAN	W	320;243;338;320;320;320	ENSP00000340221:R320W;ENSP00000395806:R243W;ENSP00000259708:R338W;ENSP00000418031:R320W;ENSP00000377620:R320W;ENSP00000377622:R320W	ENSP00000259708:R338W	R	+	1	2	KLC4	43146148	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	2.686000	0.46968	1.419000	0.47118	-0.274000	0.10170	CGG		0.557	KLC4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040579.2	NM_138343		14	47	0	0	0	1	0	14	47					T	43038170	C	T	43038170	3	4	250	1	0	0	0	0	1	0	0	0	8336	759	27	1	1107	1	KLC4	6	43038170	Missense_Mutation	SNP	C	TCGA-HC-A6HY-01A-11D-A31L-08		43038170	128076897	13	11718											
PDK4	5166	broad.mit.edu	37	chr7	95217071	95217071	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtcttcttttcccaagacaaCaataacctctattggtgtaa	12	14	5	10	0	3	1	0	0	3	1	4	1	4	1	2	1	2	1	2	1	6	7			TCGA-HC-A6HY-01A-11D-A31L-08	TCGA-HC-A6HY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87d9162b-d9e0-48d2-817d-7a3fd2ab5cfe	69ff5580-dfde-4556-8960-ff3975b593be	g.chr7:95217071C>T	ENST00000005178.5	-	8	1035	c.838G>A	c.(838-840)Gtt>Att	p.V280I		NM_002612.3	NP_002603.1	Q16654	PDK4_HUMAN	pyruvate dehydrogenase kinase, isozyme 4	280	Histidine kinase. {ECO:0000255|PROSITE- ProRule:PRU00107}.				cellular metabolic process (GO:0044237)|cellular response to fatty acid (GO:0071398)|cellular response to starvation (GO:0009267)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|insulin receptor signaling pathway (GO:0008286)|negative regulation of anoikis (GO:2000811)|protein phosphorylation (GO:0006468)|pyruvate metabolic process (GO:0006090)|reactive oxygen species metabolic process (GO:0072593)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|regulation of bone resorption (GO:0045124)|regulation of cellular ketone metabolic process (GO:0010565)|regulation of fatty acid biosynthetic process (GO:0042304)|regulation of fatty acid oxidation (GO:0046320)|regulation of glucose metabolic process (GO:0010906)|regulation of pH (GO:0006885)|response to starvation (GO:0042594)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|pyruvate dehydrogenase (acetyl-transferring) kinase activity (GO:0004740)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|liver(1)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	15	all_cancers(62;1.06e-10)|all_epithelial(64;1.04e-09)|Lung NSC(181;0.128)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0151)			CCCAAGACAACAATAACCTCT	0.388																																						ENST00000005178.5																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|liver(1)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	15						c.(838-840)Gtt>Att		pyruvate dehydrogenase kinase, isozyme 4							81	77	78					7																	95217071		2203	4300	6503	SO:0001583	missense	5166				glucose metabolic process|peptidyl-histidine phosphorylation|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	ATP binding|pyruvate dehydrogenase (acetyl-transferring) kinase activity|two-component sensor activity	g.chr7:95217071C>T	U54617	CCDS5643.1	7q21.3-q22.1	2008-07-18	2005-11-16		ENSG00000004799	ENSG00000004799			8812	protein-coding gene	gene with protein product		602527	"pyruvate dehydrogenase kinase, isoenzyme 4"			7499431	Standard	NM_002612		Approved		uc003uoa.3	Q16654	OTTHUMG00000153977	ENST00000005178.5:c.838G>A	7.37:g.95217071C>T	ENSP00000005178:p.Val280Ile						p.V280I	NM_002612.3	NP_002603.1	Q16654	PDK4_HUMAN	STAD - Stomach adenocarcinoma(171;0.0151)		8	1035	-	all_cancers(62;1.06e-10)|all_epithelial(64;1.04e-09)|Lung NSC(181;0.128)|all_lung(186;0.151)		280			Histidine kinase.			Missense_Mutation	SNP	ENST00000005178.5	37	c.838G>A	CCDS5643.1	.	.	.	.	.	.	.	.	.	.	C	15.61	2.885410	0.51908	.	.	ENSG00000004799	ENST00000005178;ENST00000542888	T	0.54675	0.56	5.47	5.47	0.80525	Signal transduction histidine kinase, core (1);ATPase-like, ATP-binding domain (4);	0.055210	0.64402	D	0.000001	T	0.40322	0.1112	N	0.17082	0.46	0.80722	D	1	B	0.22146	0.065	B	0.30495	0.116	T	0.24799	-1.0150	10	0.07813	T	0.8	.	19.7045	0.96068	0.0:1.0:0.0:0.0	.	280	Q16654	PDK4_HUMAN	I	280;244	ENSP00000005178:V280I	ENSP00000005178:V280I	V	-	1	0	PDK4	95055007	1.000000	0.71417	0.999000	0.59377	0.792000	0.44763	4.710000	0.61873	2.727000	0.93392	0.591000	0.81541	GTT		0.388	PDK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333298.1	NM_002612		3	34	0	0	0	1	0	3	34					T	95217071	C	T	95217071	3	4	250	1	0	0	0	0	1	0	0	0	11678	478	17	3	413	3	PDK4	7	95217071	Missense_Mutation	SNP	C	TCGA-HC-A6HY-01A-11D-A31L-08		95217071	63921592	14	11719											
ZFHX4	79776	broad.mit.edu	37	chr8	77766907	77766907	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccctaaaaaggaaactagacGataaagaagataataattgc	21	7	7	6	1	0	3	0	0	0	3	0	5	0	4	1	1	2	0	1	1	10	6			TCGA-HC-A6HY-01A-11D-A31L-08	TCGA-HC-A6HY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87d9162b-d9e0-48d2-817d-7a3fd2ab5cfe	69ff5580-dfde-4556-8960-ff3975b593be	g.chr8:77766907G>A	ENST00000521891.2	+	10	8198	c.7750G>A	c.(7750-7752)Gat>Aat	p.D2584N	ZFHX4_ENST00000455469.2_Missense_Mutation_p.D2539N|ZFHX4_ENST00000050961.6_Missense_Mutation_p.D2539N|ZFHX4_ENST00000518282.1_Missense_Mutation_p.D2558N	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	2539					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			GAAACTAGACGATAAAGAAGA	0.507										HNSCC(33;0.089)																												ENST00000521891.2																			0				NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432						c.(7750-7752)Gat>Aat		zinc finger homeobox 4							51	50	50					8																	77766907		1906	4115	6021	SO:0001583	missense	79776					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:77766907G>A		CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"Homeoboxes / ZF class"	30939	protein-coding gene	gene with protein product		606940	"zinc finger homeodomain 4"			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.7750G>A	8.37:g.77766907G>A	ENSP00000430497:p.Asp2584Asn	HNSCC(33;0.089)				ZFHX4_ENST00000455469.2_Missense_Mutation_p.D2539N|ZFHX4_ENST00000050961.6_Missense_Mutation_p.D2539N|ZFHX4_ENST00000518282.1_Missense_Mutation_p.D2558N	p.D2584N	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.0895)		10	8198	+			2539					G3V138|Q18PS0|Q6ZN20	Missense_Mutation	SNP	ENST00000521891.2	37	c.7750G>A	CCDS47878.2	.	.	.	.	.	.	.	.	.	.	G	12.42	1.932587	0.34096	.	.	ENSG00000091656	ENST00000521891;ENST00000399468;ENST00000455469;ENST00000050961;ENST00000518282	T;T;T;T	0.52526	0.66;0.71;0.68;0.67	5.38	5.38	0.77491	.	0.144113	0.31010	U	0.008431	T	0.42017	0.1184	N	0.19112	0.55	0.80722	D	1	D;D;B	0.59357	0.985;0.973;0.297	P;P;B	0.45681	0.49;0.464;0.063	T	0.46119	-0.9214	10	0.72032	D	0.01	.	19.3233	0.94252	0.0:0.0:1.0:0.0	.	2539;2539;2584	Q86UP3;Q86UP3-4;G3V138	ZFHX4_HUMAN;.;.	N	2584;2568;2539;2539;2558	ENSP00000430497:D2584N;ENSP00000399605:D2539N;ENSP00000050961:D2539N;ENSP00000430848:D2558N	ENSP00000050961:D2539N	D	+	1	0	ZFHX4	77929462	1.000000	0.71417	0.555000	0.28281	0.015000	0.08874	9.643000	0.98464	2.791000	0.96007	0.650000	0.86243	GAT		0.507	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	NM_024721		4	48	0	0	0	1	0	4	48					A	77766907	G	A	77766907	3	1	250	1	0	0	0	0	1	0	0	0	17632	1058	37	2	7784	2	ZFHX4	8	77766907	Missense_Mutation	SNP	G	TCGA-HC-A6HY-01A-11D-A31L-08		77766907	68597115	15	11720											
PKHD1L1	93035	broad.mit.edu	37	chr8	110464996	110464996	+	Frame_Shift_Del	DEL	G	G	-																															ctggtcctccaatttctcatGggggggaaaatctcccccag																										TCGA-HC-A6HY-01A-11D-A31L-08	TCGA-HC-A6HY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87d9162b-d9e0-48d2-817d-7a3fd2ab5cfe	69ff5580-dfde-4556-8960-ff3975b593be	g.chr8:110464996delG	ENST00000378402.5	+	43	6661	c.6557delG	c.(6556-6558)tggfs	p.W2186fs		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	2186	G8 1. {ECO:0000255|PROSITE- ProRule:PRU00817}.				immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			AATTTCTCATGGGGGGGAAAA	0.388										HNSCC(38;0.096)																												ENST00000378402.5																			0				NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263						c.(6556-6558)tgfs		polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1							40	37	38					8																	110464996		1807	4071	5878	SO:0001589	frameshift_variant	93035				immune response	cytosol|extracellular space|integral to membrane	receptor activity	g.chr8:110464996delG	AY219181	CCDS47911.1	8q23	2003-03-28			ENSG00000205038	ENSG00000205038			20313	protein-coding gene	gene with protein product		607843				12620974	Standard	NM_177531		Approved		uc003yne.3	Q86WI1	OTTHUMG00000164934	ENST00000378402.5:c.6557delG	8.37:g.110464996delG	ENSP00000367655:p.Trp2186fs	HNSCC(38;0.096)					p.W2186fs	NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)		43	6661	+			2186			G8 1.		Q567P2|Q9UF27	Frame_Shift_Del	DEL	ENST00000378402.5	37	c.6557delG	CCDS47911.1																																																																																				0.388	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381017.1	NM_177531		2	4						2	4	---	---	---	---	-	110464996	G	-	110464996	7	5	250	1	0	1	0	1	0	0	0	0	11972	1357	47	0	6727	0	PKHD1L1	8	110464996	Frame_Shift_Del	DEL	G	TCGA-HC-A6HY-01A-11D-A31L-08	32698089	110464996	35899026	16	11721											
CHST3	9469	broad.mit.edu	37	chr10	73767311	73767311	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atcgagcgcacagtgtccttCgagccggggggcgccaacgc	7	5	15	14	6	0	0	0	0	0	0	3	2	1	0	3	3	3	1	3	3	1	1			TCGA-HC-A6HY-01A-11D-A31L-08	TCGA-HC-A6HY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87d9162b-d9e0-48d2-817d-7a3fd2ab5cfe	69ff5580-dfde-4556-8960-ff3975b593be	g.chr10:73767311C>T	ENST00000373115.4	+	3	959	c.522C>T	c.(520-522)ttC>ttT	p.F174F		NM_004273.4	NP_004264.2	Q7LGC8	CHST3_HUMAN	carbohydrate (chondroitin 6) sulfotransferase 3	174					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)|sulfur compound metabolic process (GO:0006790)|T cell homeostasis (GO:0043029)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	chondroitin 6-sulfotransferase activity (GO:0008459)|proteoglycan sulfotransferase activity (GO:0050698)|sulfotransferase activity (GO:0008146)			endometrium(1)|lung(5)	6						CAGTGTCCTTCGAGCCGGGGG	0.647																																						ENST00000373115.4																			0				endometrium(1)|lung(5)	6						c.(520-522)ttC>ttT		carbohydrate (chondroitin 6) sulfotransferase 3							21	22	21					10																	73767311		2203	4297	6500	SO:0001819	synonymous_variant	9469				chondroitin sulfate biosynthetic process	Golgi membrane|integral to membrane	chondroitin 6-sulfotransferase activity	g.chr10:73767311C>T	AB017915	CCDS7312.1	10q22.1	2007-03-14			ENSG00000122863	ENSG00000122863		"Sulfotransferases, membrane-bound"	1971	protein-coding gene	gene with protein product		603799				9883891, 9714738	Standard	NM_004273		Approved	C6ST, C6ST1	uc001jsn.3	Q7LGC8	OTTHUMG00000018431	ENST00000373115.4:c.522C>T	10.37:g.73767311C>T							p.F174F	NM_004273.4	NP_004264.2	Q7LGC8	CHST3_HUMAN			3	959	+			174					O75099|Q52M30	Silent	SNP	ENST00000373115.4	37	c.522C>T	CCDS7312.1																																																																																				0.647	CHST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048563.1	NM_004273		6	17	0	0	0	1	0	6	17					T	73767311	C	T	73767311	2	4	250	1	0	0	0	0	0	0	0	1	3405	883	31	2		2	CHST3	10	73767311	Silent	SNP	C	TCGA-HC-A6HY-01A-11D-A31L-08		73767311	61767436	17	11722											
OR51I1	390063	broad.mit.edu	37	chr11	5462694	5462694	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtttgtatcccaggaatgccTgtcagctggagtgttgctgg	6	13	14	8	0	1	0	1	0	0	0	2	2	2	2	2	3	3	5	2	3	2	3			TCGA-HC-A6HY-01A-11D-A31L-08	TCGA-HC-A6HY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87d9162b-d9e0-48d2-817d-7a3fd2ab5cfe	69ff5580-dfde-4556-8960-ff3975b593be	g.chr11:5462694T>A	ENST00000380211.1	-	1	50	c.51A>T	c.(49-51)acA>acT	p.T17T	HBG2_ENST00000380252.1_Intron|AC104389.28_ENST00000415970.1_RNA|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380259.2_Intron	NM_001005288.2	NP_001005288.1	Q9H343	O51I1_HUMAN	olfactory receptor, family 51, subfamily I, member 1	17					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	30		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.92e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CAGGAATGCCTGTCAGCTGGA	0.522																																						ENST00000380211.1																			0				central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	30						c.(49-51)acA>acT		olfactory receptor, family 51, subfamily I, member 1							83	84	83					11																	5462694		2201	4297	6498	SO:0001819	synonymous_variant	390063				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5462694T>A	BK004429	CCDS31382.1	11p15.4	2012-08-09			ENSG00000167359	ENSG00000167359		"GPCR / Class A : Olfactory receptors"	15200	protein-coding gene	gene with protein product							Standard	NM_001005288		Approved		uc010qze.2	Q9H343	OTTHUMG00000066908	ENST00000380211.1:c.51A>T	11.37:g.5462694T>A						AC104389.28_ENST00000415970.1_RNA|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron|HBG2_ENST00000380259.2_Intron	p.T17T	NM_001005288.2	NP_001005288.1	Q9H343	O51I1_HUMAN		Epithelial(150;1.92e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	50	-		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)	17					B9EKW2|Q6IF33	Silent	SNP	ENST00000380211.1	37	c.51A>T	CCDS31382.1																																																																																				0.522	OR51I1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143399.1	NM_001005288		26	49	0	0	0	1	0	26	49					A	5462694	T	A	5462694	2	1	250	1	0	0	0	0	0	0	0	1	11100	1567	55	5		5	OR51I1	11	5462694	Silent	SNP	T	TCGA-HC-A6HY-01A-11D-A31L-08		5462694	129543822	18	11723											
CTR9	9646	broad.mit.edu	37	chr11	10800225	10800225	+	Splice_Site	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	accaatgatcatctttgccaGacatcccaggaacagcaaca	15	7	6	13	0	2	2	1	1	1	1	3	3	3	3	3	1	4	1	3	1	3	1			TCGA-HC-A6HY-01A-11D-A31L-08	TCGA-HC-A6HY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87d9162b-d9e0-48d2-817d-7a3fd2ab5cfe	69ff5580-dfde-4556-8960-ff3975b593be	g.chr11:10800225G>C	ENST00000361367.2	+	25	3521		c.e25-1			NM_014633.3	NP_055448.1	Q6PD62	CTR9_HUMAN	CTR9, Paf1/RNA polymerase II complex component						cellular response to lipopolysaccharide (GO:0071222)|endodermal cell fate commitment (GO:0001711)|histone H2B ubiquitination (GO:0033523)|histone H3-K4 trimethylation (GO:0080182)|histone monoubiquitination (GO:0010390)|interleukin-6-mediated signaling pathway (GO:0070102)|JAK-STAT cascade (GO:0007259)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of histone H3-K79 methylation (GO:2001162)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	Cdc73/Paf1 complex (GO:0016593)|transcriptionally active chromatin (GO:0035327)				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(12)|ovary(2)|pancreas(1)|stomach(1)	40				all cancers(16;1.64e-07)|Epithelial(150;2.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)		ATCTTTGCCAGACATCCCAGG	0.448																																						ENST00000361367.2																			0				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(12)|ovary(2)|pancreas(1)|stomach(1)	40						c.e25-1		CTR9, Paf1/RNA polymerase II complex component							73	62	66					11																	10800225		2201	4294	6495	SO:0001630	splice_region_variant	9646				histone H2B ubiquitination|histone monoubiquitination	Cdc73/Paf1 complex|nuclear speck		g.chr11:10800225G>C	D63875	CCDS7805.1	11p15.3	2013-07-03	2013-07-03	2006-05-22	ENSG00000198730	ENSG00000198730		"Tetratricopeptide (TTC) repeat domain containing"	16850	protein-coding gene	gene with protein product		609366	"SH2 domain binding protein 1 (tetratricopeptide repeat containing)", "Ctr9, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae)"	SH2BP1		8590280, 8636124	Standard	NM_014633		Approved	KIAA0155, TSBP, p150TSP	uc001mja.3	Q6PD62	OTTHUMG00000165789	ENST00000361367.2:c.3096-1G>C	11.37:g.10800225G>C								NM_014633.3	NP_055448.1	Q6PD62	CTR9_HUMAN		all cancers(16;1.64e-07)|Epithelial(150;2.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)	25	3521	+								D3DQV8|Q15015	Splice_Site	SNP	ENST00000361367.2	37		CCDS7805.1	.	.	.	.	.	.	.	.	.	.	G	16.70	3.196906	0.58126	.	.	ENSG00000198730	ENST00000361367	.	.	.	4.97	4.97	0.65823	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.4004	0.60879	0.0:0.0:0.843:0.157	.	.	.	.	.	-1	.	.	.	+	.	.	CTR9	10756801	1.000000	0.71417	0.999000	0.59377	0.895000	0.52256	5.097000	0.64542	2.591000	0.87537	0.655000	0.94253	.		0.448	CTR9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386215.1	NM_014633	Intron	13	23	0	0	0	1	0	13	23					C	10800225	G	C	10800225	5	2	250	1	0	0	0	0	0	0	1	0	4024	956	33	5	3193	5	CTR9	11	10800225	Splice_Site	SNP	G	TCGA-HC-A6HY-01A-11D-A31L-08	5337531	10800225	124206291	19	11724											
RAG2	5897	broad.mit.edu	37	chr11	36615227	36615227	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttttctgtggttctgtgggtAgaaggcatgtatgagcgtcc	6	15	14	6	1	2	2	0	1	2	1	3	2	3	2	1	3	1	4	1	3	3	5			TCGA-HC-A6HY-01A-11D-A31L-08	TCGA-HC-A6HY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87d9162b-d9e0-48d2-817d-7a3fd2ab5cfe	69ff5580-dfde-4556-8960-ff3975b593be	g.chr11:36615227A>G	ENST00000311485.3	-	2	653	c.492T>C	c.(490-492)tcT>tcC	p.S164S	C11orf74_ENST00000446510.2_5'Flank|C11orf74_ENST00000334307.5_5'Flank|RAG2_ENST00000528428.1_5'Flank|C11orf74_ENST00000347206.4_5'Flank|C11orf74_ENST00000534635.1_5'Flank	NM_000536.3|NM_001243785.1|NM_001243786.1	NP_000527.2|NP_001230714.1|NP_001230715.1	P55895	RAG2_HUMAN	recombination activating gene 2	164					B cell differentiation (GO:0030183)|chromatin modification (GO:0016568)|pre-B cell allelic exclusion (GO:0002331)|T cell differentiation in thymus (GO:0033077)|V(D)J recombination (GO:0033151)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|methylated histone binding (GO:0035064)|phosphatidylinositol binding (GO:0035091)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|pancreas(2)|prostate(1)|skin(4)	32	all_lung(20;0.226)	all_hematologic(20;0.00756)				TTCTGTGGGTAGAAGGCATGT	0.453									Familial Hemophagocytic Lymphohistiocytosis																													ENST00000311485.3																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|pancreas(2)|prostate(1)|skin(4)	32						c.(490-492)tcT>tcC		recombination activating gene 2							123	118	119					11																	36615227		2202	4298	6500	SO:0001819	synonymous_variant	5897	Familial Hemophagocytic Lymphohistiocytosis	Familial Cancer Database	FHLH, FHL, Familial Hemophagocytic Reticulosis, FHR	chromatin modification|pre-B cell allelic exclusion|somatic diversification of immunoglobulins|T cell differentiation in thymus|V(D)J recombination	nucleus	chromatin binding|DNA binding|endonuclease activity|methylated histone residue binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-4,5-bisphosphate binding|zinc ion binding	g.chr11:36615227A>G	AF080577	CCDS7903.1	11p13	2014-09-17				ENSG00000175097			9832	protein-coding gene	gene with protein product		179616				1283330	Standard	NM_000536		Approved		uc001mwv.4	P55895		ENST00000311485.3:c.492T>C	11.37:g.36615227A>G							p.S164S	NM_000536.3|NM_001243785.1|NM_001243786.1	NP_000527.2|NP_001230714.1|NP_001230715.1	P55895	RAG2_HUMAN			2	653	-	all_lung(20;0.226)	all_hematologic(20;0.00756)	164					A8K9E9|Q8TBL4	Silent	SNP	ENST00000311485.3	37	c.492T>C	CCDS7903.1																																																																																				0.453	RAG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389536.1	NM_000536		40	63	0	0	0	1	0	40	63					G	36615227	A	G	36615227	2	3	250	1	0	0	0	0	0	0	0	1	13005	407	15	4		4	RAG2	11	36615227	Silent	SNP	A	TCGA-HC-A6HY-01A-11D-A31L-08	25815002	36615227	98391289	20	11725											
OR4S1	256148	broad.mit.edu	37	chr11	48328501	48328501	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccacatgtggctcacacgtaAtcactgtccttttggttctc	7	14	7	13	1	3	0	2	0	1	0	5	0	4	0	2	2	0	3	2	2	1	4			TCGA-HC-A6HY-01A-11D-A31L-08	TCGA-HC-A6HY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87d9162b-d9e0-48d2-817d-7a3fd2ab5cfe	69ff5580-dfde-4556-8960-ff3975b593be	g.chr11:48328501A>T	ENST00000319988.1	+	1	727	c.727A>T	c.(727-729)Atc>Ttc	p.I243F		NM_001004725.1	NP_001004725.1	Q8NGB4	OR4S1_HUMAN	olfactory receptor, family 4, subfamily S, member 1	243						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|skin(3)	21						CTCACACGTAATCACTGTCCT	0.453																																						ENST00000319988.1																			0				endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|skin(3)	21						c.(727-729)Atc>Ttc		olfactory receptor, family 4, subfamily S, member 1							251	227	235					11																	48328501		2201	4298	6499	SO:0001583	missense	256148				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:48328501A>T	AB065908	CCDS31488.1	11p11.2	2012-08-09			ENSG00000176555	ENSG00000176555		"GPCR / Class A : Olfactory receptors"	14705	protein-coding gene	gene with protein product							Standard	NM_001004725		Approved		uc010rhu.2	Q8NGB4	OTTHUMG00000166578	ENST00000319988.1:c.727A>T	11.37:g.48328501A>T	ENSP00000321447:p.Ile243Phe						p.I243F	NM_001004725.1	NP_001004725.1	Q8NGB4	OR4S1_HUMAN			1	727	+			243					Q6IFB4	Missense_Mutation	SNP	ENST00000319988.1	37	c.727A>T	CCDS31488.1	.	.	.	.	.	.	.	.	.	.	A	13.21	2.168963	0.38315	.	.	ENSG00000176555	ENST00000319988	T	0.37752	1.18	5.02	3.89	0.44902	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.43100	0.1232	L	0.60012	1.86	0.09310	N	1	B	0.29671	0.254	B	0.41412	0.356	T	0.46247	-0.9205	9	0.87932	D	0	.	9.0975	0.36647	0.9111:0.0:0.0889:0.0	.	243	Q8NGB4	OR4S1_HUMAN	F	243	ENSP00000321447:I243F	ENSP00000321447:I243F	I	+	1	0	OR4S1	48285077	0.000000	0.05858	0.010000	0.14722	0.610000	0.37248	-0.106000	0.10890	0.866000	0.35629	0.533000	0.62120	ATC		0.453	OR4S1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390556.1	NM_001004725		41	93	0	0	0	1	0	41	93					T	48328501	A	T	48328501	3	4	250	1	0	0	0	0	1	0	0	0	11082	101	4	5	729	5	OR4S1	11	48328501	Missense_Mutation	SNP	A	TCGA-HC-A6HY-01A-11D-A31L-08	11713274	48328501	86678015	21	11726											
OR5B2	390190	broad.mit.edu	37	chr11	58190360	58190360	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtggtgtagtgtaggggtttGcacactgctgcatagcggtc	6	12	16	7	1	0	0	0	0	0	0	1	0	0	0	0	4	4	6	0	4	3	4			TCGA-HC-A6HY-01A-11D-A31L-08	TCGA-HC-A6HY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87d9162b-d9e0-48d2-817d-7a3fd2ab5cfe	69ff5580-dfde-4556-8960-ff3975b593be	g.chr11:58190360G>T	ENST00000302581.2	-	1	426	c.375C>A	c.(373-375)tgC>tgA	p.C125*		NM_001005566.2	NP_001005566.1	Q96R09	OR5B2_HUMAN	olfactory receptor, family 5, subfamily B, member 2	125						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.C125C(1)		NS(2)|large_intestine(2)|lung(19)|ovary(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				GTAGGGGTTTGCACACTGCTG	0.507																																						ENST00000302581.2																			1	Substitution - coding silent(1)	p.C125C(1)	lung(1)	NS(2)|large_intestine(2)|lung(19)|ovary(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(373-375)tgC>tgA		olfactory receptor, family 5, subfamily B, member 2							108	89	95					11																	58190360		2201	4295	6496	SO:0001587	stop_gained	390190				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:58190360G>T	AB065852	CCDS31550.1	11q12.1	2012-08-09			ENSG00000172365	ENSG00000172365		"GPCR / Class A : Olfactory receptors"	8323	protein-coding gene	gene with protein product							Standard	NM_001005566		Approved	OST073	uc010rkg.2	Q96R09	OTTHUMG00000167517	ENST00000302581.2:c.375C>A	11.37:g.58190360G>T	ENSP00000303076:p.Cys125*						p.C125*	NM_001005566.2	NP_001005566.1	Q96R09	OR5B2_HUMAN			1	426	-	Esophageal squamous(5;0.0027)	Breast(21;0.0778)	125					B2RNJ6|B9EGY7|Q6IEV7|Q8NGF5	Nonsense_Mutation	SNP	ENST00000302581.2	37	c.375C>A	CCDS31550.1	.	.	.	.	.	.	.	.	.	.	G	8.404	0.842652	0.16963	.	.	ENSG00000172365	ENST00000302581	.	.	.	3.84	-4.65	0.03339	.	0.000000	0.38605	U	0.001635	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-12.6963	11.1627	0.48524	0.4733:0.0:0.5267:0.0	.	.	.	.	X	125	.	ENSP00000303076:C125X	C	-	3	2	OR5B2	57946936	0.000000	0.05858	0.121000	0.21740	0.101000	0.19017	-0.911000	0.04050	-1.150000	0.02840	-0.237000	0.12165	TGC		0.507	OR5B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394887.2	NM_001005566		28	49	1	0	1.42536e-11	1	1.49845e-11	28	49					T	58190360	G	T	58190360	4	4	250	1	0	0	0	0	0	1	0	0	11150	1311	46	5	558	5	OR5B2	11	58190360	Nonsense_Mutation	SNP	G	TCGA-HC-A6HY-01A-11D-A31L-08	9861859	58190360	76816156	22	11727											
POU2AF1	5450	broad.mit.edu	37	chr11	111228347	111228347	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gccaggggctgcagggtggcCggggtgggctgggagagcca	5	4	23	9	1	0	1	0	0	0	1	0	2	0	1	3	8	2	3	3	8	0	0			TCGA-HC-A6HY-01A-11D-A31L-08	TCGA-HC-A6HY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87d9162b-d9e0-48d2-817d-7a3fd2ab5cfe	69ff5580-dfde-4556-8960-ff3975b593be	g.chr11:111228347C>T	ENST00000393067.3	-	4	793	c.279G>A	c.(277-279)ccG>ccA	p.P93P		NM_006235.2	NP_006226.2	Q16633	OBF1_HUMAN	POU class 2 associating factor 1	93					humoral immune response (GO:0006959)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)			breast(1)|kidney(2)|lung(2)	5		all_cancers(61;1.36e-12)|all_epithelial(67;1.87e-07)|Melanoma(852;1.46e-05)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|all_neural(223;0.0146)|Medulloblastoma(222;0.0245)|Breast(348;0.0389)		Epithelial(105;1.01e-06)|BRCA - Breast invasive adenocarcinoma(274;3.12e-06)|all cancers(92;1.8e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0364)		GCAGGGTGGCCGGGGTGGGCT	0.627			T	BCL6	NHL																																	ENST00000393067.3				Dom	yes		11	11q23.1	5450	T	"POU domain, class 2, associating factor 1 (OBF1)"			L	BCL6		NHL		0				breast(1)|kidney(2)|lung(2)	5						c.(277-279)ccG>ccA		POU class 2 associating factor 1							26	27	27					11																	111228347		2201	4297	6498	SO:0001819	synonymous_variant	5450				humoral immune response|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	protein binding|transcription coactivator activity	g.chr11:111228347C>T		CCDS31675.1	11q23.1	2011-06-01	2007-07-13			ENSG00000110777			9211	protein-coding gene	gene with protein product		601206	"POU domain class 2, associating factor 1"			8617501	Standard	NM_006235		Approved	OBF1	uc001plg.4	Q16633		ENST00000393067.3:c.279G>A	11.37:g.111228347C>T							p.P93P	NM_006235.2	NP_006226.2	Q16633	OBF1_HUMAN		Epithelial(105;1.01e-06)|BRCA - Breast invasive adenocarcinoma(274;3.12e-06)|all cancers(92;1.8e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0364)	4	793	-		all_cancers(61;1.36e-12)|all_epithelial(67;1.87e-07)|Melanoma(852;1.46e-05)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|all_neural(223;0.0146)|Medulloblastoma(222;0.0245)|Breast(348;0.0389)	93					B2R8Z9|Q14983	Silent	SNP	ENST00000393067.3	37	c.279G>A	CCDS31675.1																																																																																				0.627	POU2AF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391002.1	NM_006235		3	41	0	0	0	1	0	3	41					T	111228347	C	T	111228347	2	4	250	1	0	0	0	0	0	0	0	1	12270	639	23	2		2	POU2AF1	11	111228347	Silent	SNP	C	TCGA-HC-A6HY-01A-11D-A31L-08	53037987	111228347	23778169	23	11728											
CLEC4A	50856	broad.mit.edu	37	chr12	8290795	8290795	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgcgttgtgctaaattttcGtaaatcacccaaaagatggg	12	12	9	8	2	1	1	1	0	0	1	2	1	1	1	1	1	2	3	1	1	6	5	rs375140919		TCGA-HC-A6HY-01A-11D-A31L-08	TCGA-HC-A6HY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87d9162b-d9e0-48d2-817d-7a3fd2ab5cfe	69ff5580-dfde-4556-8960-ff3975b593be	g.chr12:8290795G>A	ENST00000229332.5	+	6	873	c.626G>A	c.(625-627)cGt>cAt	p.R209H	CLEC4A_ENST00000360500.3_Missense_Mutation_p.R170H|CLEC4A_ENST00000352620.3_Missense_Mutation_p.R176H|CLEC4A_ENST00000345999.3_Missense_Mutation_p.R137H	NM_016184.3|NM_194447.2|NM_194450.2	NP_057268.1|NP_919429.2|NP_919432.1	Q9UMR7	CLC4A_HUMAN	C-type lectin domain family 4, member A	209	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|innate immune response (GO:0045087)	integral component of plasma membrane (GO:0005887)	carbohydrate binding (GO:0030246)|transmembrane signaling receptor activity (GO:0004888)			cervix(1)|endometrium(3)|large_intestine(2)|lung(4)|prostate(1)	11				Kidney(36;0.0915)		CTAAATTTTCGTAAATCACCC	0.433													g|||	1	0.000199681	0	0	5008	,	,		-128	0		0	False		,,,				2504	0.001					ENST00000229332.5																			0				cervix(1)|endometrium(3)|large_intestine(2)|lung(4)|prostate(1)	11						c.(625-627)cGt>cAt		C-type lectin domain family 4, member A		G	HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	172	149	156		626,509,410,527	-6	0	12		156	0,8600		0,0,4300	no	missense,missense,missense,missense	CLEC4A	NM_016184.3,NM_194447.2,NM_194448.2,NM_194450.2	29,29,29,29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign,benign,benign,benign	209/238,170/199,137/166,176/205	8290795	1,13005	2203	4300	6503	SO:0001583	missense	50856				cell adhesion|cell surface receptor linked signaling pathway|innate immune response	integral to plasma membrane	sugar binding|transmembrane receptor activity	g.chr12:8290795G>A	AJ133532	CCDS8590.1, CCDS8591.1, CCDS8592.1, CCDS41745.1	12p13	2005-02-09	2005-02-09	2005-02-09	ENSG00000111729	ENSG00000111729		"C-type lectin domain containing"	13257	protein-coding gene	gene with protein product		605306	"C-type (calcium dependent, carbohydrate-recognition domain) lectin, superfamily member 6"	CLECSF6		10438934	Standard	NM_016184		Approved	DCIR, DDB27	uc001qtz.1	Q9UMR7	OTTHUMG00000168571	ENST00000229332.5:c.626G>A	12.37:g.8290795G>A	ENSP00000229332:p.Arg209His					CLEC4A_ENST00000360500.3_Missense_Mutation_p.R170H|CLEC4A_ENST00000352620.3_Missense_Mutation_p.R176H|CLEC4A_ENST00000345999.3_Missense_Mutation_p.R137H	p.R209H	NM_016184.3|NM_194447.2|NM_194450.2	NP_057268.1|NP_919429.2|NP_919432.1	Q9UMR7	CLC4A_HUMAN		Kidney(36;0.0915)	6	873	+			209			C-type lectin.		Q17R69|Q8WXW9|Q9H2Z9|Q9NS33|Q9UI34	Missense_Mutation	SNP	ENST00000229332.5	37	c.626G>A	CCDS8590.1	.	.	.	.	.	.	.	.	.	.	G	7.922	0.738849	0.15642	2.27E-4	0.0	ENSG00000111729	ENST00000229332;ENST00000345999;ENST00000352620;ENST00000360500	T;T;T;T	0.17213	2.29;2.29;2.29;2.29	3.0	-6.0	0.02206	C-type lectin fold (1);C-type lectin, conserved site (1);C-type lectin-like (1);C-type lectin (3);	2.476500	0.01943	N	0.042020	T	0.05547	0.0146	N	0.11106	0.095	0.09310	N	1	B;B;P;B	0.35411	0.103;0.103;0.5;0.126	B;B;B;B	0.29716	0.021;0.06;0.106;0.036	T	0.24728	-1.0152	10	0.09084	T	0.74	.	0.8766	0.01225	0.4398:0.1383:0.2083:0.2136	.	170;137;176;209	Q9UMR7-3;Q9UMR7-4;Q9UMR7-2;Q9UMR7	.;.;.;CLC4A_HUMAN	H	209;137;176;170	ENSP00000229332:R209H;ENSP00000344646:R137H;ENSP00000247243:R176H;ENSP00000353690:R170H	ENSP00000229332:R209H	R	+	2	0	CLEC4A	8182062	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.884000	0.04166	-1.684000	0.01443	-0.198000	0.12761	CGT		0.433	CLEC4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400257.1	NM_194450		9	70	0	0	0	1	0	9	70					A	8290795	G	A	8290795	3	1	250	1	0	0	0	0	1	0	0	0	3512	1145	40	1	648	1	CLEC4A	12	8290795	Missense_Mutation	SNP	G	TCGA-HC-A6HY-01A-11D-A31L-08		8290795	125561100	24	11729											
SLC41A2	84102	broad.mit.edu	37	chr12	105198937	105198937	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	tttgtagaatttattagtctCcaacatctccatctcgatct	10	17	4	10	1	4	1	0	0	4	1	7	2	4	1	2	0	1	1	2	0	5	5			TCGA-HC-A6HY-01A-11D-A31L-08	TCGA-HC-A6HY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87d9162b-d9e0-48d2-817d-7a3fd2ab5cfe	69ff5580-dfde-4556-8960-ff3975b593be	g.chr12:105198937C>G	ENST00000258538.3	-	10	1842	c.1715G>C	c.(1714-1716)gGa>gCa	p.G572A	SLC41A2_ENST00000549713.1_5'UTR	NM_032148.3	NP_115524.3	Q96JW4	S41A2_HUMAN	solute carrier family 41 (magnesium transporter), member 2	572					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cation transmembrane transporter activity (GO:0008324)			breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	22						TTATTAGTCTCCAACATCTCC	0.393																																					Esophageal Squamous(195;176 2919 4272 35572)	ENST00000258538.3																			0				breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	22						c.(1714-1716)gGa>gCa		solute carrier family 41 (magnesium transporter), member 2							199	211	207					12																	105198937		2203	4300	6503	SO:0001583	missense	84102					integral to membrane|plasma membrane	magnesium ion transmembrane transporter activity	g.chr12:105198937C>G	BC036734	CCDS9100.2	12q24.11	2013-07-17	2013-07-17		ENSG00000136052	ENSG00000136052		"Solute carriers"	31045	protein-coding gene	gene with protein product		610802	"solute carrier family 41, member 2"				Standard	NM_032148		Approved	DKFZP434K0427	uc001tla.3	Q96JW4	OTTHUMG00000156965	ENST00000258538.3:c.1715G>C	12.37:g.105198937C>G	ENSP00000258538:p.Gly572Ala					SLC41A2_ENST00000549713.1_5'UTR	p.G572A	NM_032148.3	NP_115524.3	Q96JW4	S41A2_HUMAN			10	1842	-			572					Q3KP68|Q9H0E5	Missense_Mutation	SNP	ENST00000258538.3	37	c.1715G>C	CCDS9100.2	.	.	.	.	.	.	.	.	.	.	C	28.4	4.913984	0.92178	.	.	ENSG00000136052	ENST00000258538	T	0.60920	0.15	5.66	5.66	0.87406	.	0.054620	0.64402	D	0.000001	T	0.75568	0.3867	M	0.73598	2.24	0.80722	D	1	D	0.71674	0.998	P	0.61940	0.896	T	0.77621	-0.2519	10	0.72032	D	0.01	-0.9213	19.7589	0.96306	0.0:1.0:0.0:0.0	.	572	Q96JW4	S41A2_HUMAN	A	572	ENSP00000258538:G572A	ENSP00000258538:G572A	G	-	2	0	SLC41A2	103723067	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.656000	0.83736	2.654000	0.90174	0.585000	0.79938	GGA		0.393	SLC41A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346850.3	NM_032148		5	264	0	0	0	1	0	5	264					G	105198937	C	G	105198937	3	3	250	1	0	0	0	0	1	0	0	0	14630	855	30	5	10	5	SLC41A2	12	105198937	Missense_Mutation	SNP	C	TCGA-HC-A6HY-01A-11D-A31L-08	96908142	105198937	28652958	25	11730											
AHNAK2	113146	broad.mit.edu	37	chr14	105419464	105419464	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctttcaggtccagcttggggCccttgaggtccactttgggc	4	12	13	12	0	1	1	1	1	0	0	3	1	3	1	3	5	1	1	3	5	0	4			TCGA-HC-A6HY-01A-11D-A31L-08	TCGA-HC-A6HY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87d9162b-d9e0-48d2-817d-7a3fd2ab5cfe	69ff5580-dfde-4556-8960-ff3975b593be	g.chr14:105419464C>T	ENST00000333244.5	-	7	2443	c.2324G>A	c.(2323-2325)gGc>gAc	p.G775D	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	775						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			CAGCTTGGGGCCCTTGAGGTC	0.632																																						ENST00000333244.5																			0				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33						c.(2323-2325)gGc>gAc		AHNAK nucleoprotein 2							115	128	124					14																	105419464		1869	4095	5964	SO:0001583	missense	113146					nucleus		g.chr14:105419464C>T	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"chromosome 14 open reading frame 78"	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.2324G>A	14.37:g.105419464C>T	ENSP00000353114:p.Gly775Asp					AHNAK2_ENST00000557457.1_Intron	p.G775D	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)		7	2443	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	775					Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	ENST00000333244.5	37	c.2324G>A	CCDS45177.1	.	.	.	.	.	.	.	.	.	.	c	12.21	1.868927	0.32977	.	.	ENSG00000185567	ENST00000333244	T	0.01981	4.52	2.56	0.244	0.15507	.	.	.	.	.	T	0.08179	0.0204	M	0.80847	2.515	0.09310	N	1	D	0.89917	1.0	D	0.80764	0.994	T	0.30995	-0.9959	9	0.27785	T	0.31	-3.9564	2.2801	0.04112	0.1846:0.5017:0.1826:0.1311	.	775	Q8IVF2	AHNK2_HUMAN	D	775	ENSP00000353114:G775D	ENSP00000353114:G775D	G	-	2	0	AHNAK2	104490509	0.000000	0.05858	0.003000	0.11579	0.023000	0.10783	-1.221000	0.02968	0.360000	0.24265	0.485000	0.47835	GGC		0.632	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		93	177	0	0	0	1	0	93	177					T	105419464	C	T	105419464	3	4	250	1	0	0	0	0	1	0	0	0	415	739	26	3	15067	3	AHNAK2	14	105419464	Missense_Mutation	SNP	C	TCGA-HC-A6HY-01A-11D-A31L-08		105419464	1930076	26	11731											
ACAN	176	broad.mit.edu	37	chr15	89402162	89402162	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgggttcggggcatctgccGcccctgaggccagcagagaa	7	6	15	13	2	1	2	0	1	1	1	2	3	1	2	4	4	2	3	4	4	1	1			TCGA-HC-A6HY-01A-11D-A31L-08	TCGA-HC-A6HY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87d9162b-d9e0-48d2-817d-7a3fd2ab5cfe	69ff5580-dfde-4556-8960-ff3975b593be	g.chr15:89402162G>A	ENST00000561243.1	+	11	6346	c.6346G>A	c.(6346-6348)Gcc>Acc	p.A2116T	ACAN_ENST00000439576.2_Missense_Mutation_p.A2116T|ACAN_ENST00000559004.1_Missense_Mutation_p.A2116T|ACAN_ENST00000352105.7_Missense_Mutation_p.A2116T			P16112	PGCA_HUMAN	aggrecan	2001	CS-2.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)	carbohydrate binding (GO:0030246)|extracellular matrix structural constituent (GO:0005201)|hyaluronic acid binding (GO:0005540)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			GGCATCTGCCGCCCCTGAGGC	0.562																																						ENST00000439576.2																			0				NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93						c.(6346-6348)Gcc>Acc		aggrecan							45	47	47					15																	89402162		1908	4116	6024	SO:0001583	missense	176				cell adhesion		hyaluronic acid binding|sugar binding	g.chr15:89402162G>A	M55172	CCDS53970.1, CCDS53971.1	15q26.1	2013-05-07	2007-02-16	2007-02-16	ENSG00000157766	ENSG00000157766		"Immunoglobulin superfamily / V-set domain containing", "Proteoglycans / Extracellular Matrix : Hyalectans"	319	protein-coding gene	gene with protein product	"aggrecan proteoglycan"	155760	"chondroitin sulfate proteoglycan 1", "aggrecan 1"	MSK16, CSPG1, AGC1		1985970	Standard	NM_013227		Approved	CSPGCP	uc010upo.1	P16112	OTTHUMG00000171989	ENST00000561243.1:c.6346G>A	15.37:g.89402162G>A	ENSP00000453342:p.Ala2116Thr					ACAN_ENST00000559004.1_Missense_Mutation_p.A2116T|ACAN_ENST00000352105.7_Missense_Mutation_p.A2116T|ACAN_ENST00000561243.1_Missense_Mutation_p.A2116T	p.A2116T	NM_013227.3	NP_037359.3	E7EX88	E7EX88_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.146)		12	6720	+	Lung NSC(78;0.0392)|all_lung(78;0.077)		2116					Q13650|Q9UCD3|Q9UCP4|Q9UCP5|Q9UDE0	Missense_Mutation	SNP	ENST00000561243.1	37	c.6346G>A	CCDS53970.1	.	.	.	.	.	.	.	.	.	.	G	4.445	0.082406	0.08533	.	.	ENSG00000157766	ENST00000439576;ENST00000352105;ENST00000268134	T;T	0.02197	4.61;4.4	5.18	3.18	0.36537	.	0.000000	0.32503	N	0.006010	T	0.06005	0.0156	M	0.68317	2.08	0.09310	N	1	D;D	0.76494	0.998;0.999	P;P	0.60789	0.794;0.879	T	0.28964	-1.0027	10	0.20046	T	0.44	-7.8812	4.7799	0.13197	0.1896:0.1793:0.6311:0.0	.	2116;2116	E7ENV9;E7EX88	.;.	T	2116;2116;2002	ENSP00000387356:A2116T;ENSP00000341615:A2116T	ENSP00000268134:A2002T	A	+	1	0	ACAN	87203166	0.000000	0.05858	0.092000	0.20876	0.011000	0.07611	-0.226000	0.09139	1.170000	0.42753	0.555000	0.69702	GCC		0.562	ACAN-006	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416267.2	NM_001135		19	60	0	0	0	1	0	19	60					A	89402162	G	A	89402162	3	1	250	1	0	0	0	0	1	0	0	0	117	1087	38	1	6388	1	ACAN	15	89402162	Missense_Mutation	SNP	G	TCGA-HC-A6HY-01A-11D-A31L-08		89402162	13129230	27	11732											
GDE1	51573	broad.mit.edu	37	chr16	19519049	19519049	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agaaagaacagaccacactaTtattatacagttgaggaaat	19	9	7	6	0	0	4	0	1	0	3	0	5	0	5	1	1	2	1	1	1	7	5			TCGA-HC-A6HY-01A-11D-A31L-08	TCGA-HC-A6HY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87d9162b-d9e0-48d2-817d-7a3fd2ab5cfe	69ff5580-dfde-4556-8960-ff3975b593be	g.chr16:19519049T>C	ENST00000353258.3	-	4	776	c.596A>G	c.(595-597)aAt>aGt	p.N199S		NM_016641.3	NP_057725.1	Q9NZC3	GDE1_HUMAN	glycerophosphodiester phosphodiesterase 1	199	GP-PDE.				glycerol metabolic process (GO:0006071)|lipid metabolic process (GO:0006629)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	glycerophosphodiester phosphodiesterase activity (GO:0008889)|glycerophosphoinositol glycerophosphodiesterase activity (GO:0047395)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(6)|ovary(2)|prostate(1)	13						GACCACACTATTATTATACAG	0.318																																						ENST00000353258.3																			0				central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(6)|ovary(2)|prostate(1)	13						c.(595-597)aAt>aGt		glycerophosphodiester phosphodiesterase 1							92	94	94					16																	19519049		2197	4300	6497	SO:0001583	missense	51573				glycerol metabolic process|lipid metabolic process	cytoplasm|integral to membrane	glycerophosphodiester phosphodiesterase activity|glycerophosphoinositol glycerophosphodiesterase activity|metal ion binding	g.chr16:19519049T>C		CCDS10578.1	16p12-p11.2	2011-01-25			ENSG00000006007	ENSG00000006007	3.1.4.46		29644	protein-coding gene	gene with protein product	"membrane interacting protein of RGS16"	605943				12576545, 16472945	Standard	NM_016641		Approved	MIR16	uc002dgh.3	Q9NZC3	OTTHUMG00000131454	ENST00000353258.3:c.596A>G	16.37:g.19519049T>C	ENSP00000261386:p.Asn199Ser						p.N199S	NM_016641.3	NP_057725.1	Q9NZC3	GDE1_HUMAN			4	776	-			199			GDPD.		O43334|Q6PKF7|Q7KYR4	Missense_Mutation	SNP	ENST00000353258.3	37	c.596A>G	CCDS10578.1	.	.	.	.	.	.	.	.	.	.	T	4.334	0.061462	0.08339	.	.	ENSG00000006007	ENST00000353258	T	0.11277	2.79	5.75	-5.5	0.02576	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);	0.387082	0.32518	N	0.005999	T	0.02807	0.0084	N	0.02697	-0.525	0.27119	N	0.962188	B	0.02656	0.0	B	0.04013	0.001	T	0.35276	-0.9795	10	0.27785	T	0.31	-12.0075	6.075	0.19911	0.1:0.4647:0.2979:0.1373	.	199	Q9NZC3	GDE1_HUMAN	S	199	ENSP00000261386:N199S	ENSP00000261386:N199S	N	-	2	0	GDE1	19426550	0.893000	0.30496	0.929000	0.37066	0.784000	0.44337	-0.198000	0.09505	-0.408000	0.07565	-1.069000	0.02264	AAT		0.318	GDE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254274.2	NM_016641		24	50	0	0	0	1	0	24	50					C	19519049	T	C	19519049	3	2	250	1	0	0	0	0	1	0	0	0	6310	1493	52	4	411	4	GDE1	16	19519049	Missense_Mutation	SNP	T	TCGA-HC-A6HY-01A-11D-A31L-08		19519049	70835704	28	11733											
ZFPM1	161882	broad.mit.edu	37	chr16	88593283	88593283	+	Frame_Shift_Del	DEL	C	C	-																															gctgaggacgctgccccaggCcctgactgaggccgaggcca																										TCGA-HC-A6HY-01A-11D-A31L-08	TCGA-HC-A6HY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87d9162b-d9e0-48d2-817d-7a3fd2ab5cfe	69ff5580-dfde-4556-8960-ff3975b593be	g.chr16:88593283delC	ENST00000319555.3	+	5	786	c.464delC	c.(463-465)gccfs	p.A155fs	RP11-21B21.4_ENST00000563243.1_RNA	NM_153813.2	NP_722520.2	Q8IX07	FOG1_HUMAN	zinc finger protein, FOG family member 1	155					atrial septum morphogenesis (GO:0060413)|atrioventricular valve morphogenesis (GO:0003181)|blood coagulation (GO:0007596)|cardiac muscle tissue morphogenesis (GO:0055008)|definitive erythrocyte differentiation (GO:0060318)|embryonic hemopoiesis (GO:0035162)|erythrocyte differentiation (GO:0030218)|granulocyte differentiation (GO:0030851)|megakaryocyte development (GO:0035855)|megakaryocyte differentiation (GO:0030219)|mitral valve formation (GO:0003192)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of interleukin-4 biosynthetic process (GO:0045403)|negative regulation of mast cell differentiation (GO:0060377)|negative regulation of protein binding (GO:0032091)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|outflow tract morphogenesis (GO:0003151)|platelet formation (GO:0030220)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|primitive erythrocyte differentiation (GO:0060319)|regulation of chemokine production (GO:0032642)|regulation of definitive erythrocyte differentiation (GO:0010724)|T-helper cell lineage commitment (GO:0002295)|transcriptional activation by promoter-enhancer looping (GO:0071733)|tricuspid valve formation (GO:0003195)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II transcription factor binding (GO:0001085)|transcription factor binding (GO:0008134)			central_nervous_system(1)|ovary(2)|urinary_tract(1)	4				BRCA - Breast invasive adenocarcinoma(80;0.0478)		CTGCCCCAGGCCCTGACTGAG	0.677																																					Pancreas(49;850 1106 29641 32847 38344)	ENST00000319555.3																			0				central_nervous_system(1)|ovary(2)|urinary_tract(1)	4						c.(463-465)gcfs		zinc finger protein, FOG family member 1							33	30	31					16																	88593283		2164	4282	6446	SO:0001589	frameshift_variant	161882				blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	DNA binding|transcription factor binding|zinc ion binding	g.chr16:88593283delC	AF488691	CCDS32502.1	16q24.2	2013-01-10	2012-11-27		ENSG00000179588	ENSG00000179588		"Zinc fingers, C2H2-type", "Zinc fingers, C2HC-type containing"	19762	protein-coding gene	gene with protein product		601950	"zinc finger protein, multitype 1"				Standard	NM_153813		Approved	FOG1, FOG, ZNF89A, ZC2HC11A	uc002fkv.3	Q8IX07	OTTHUMG00000173152	ENST00000319555.3:c.464delC	16.37:g.88593283delC	ENSP00000326630:p.Ala155fs					RP11-21B21.4_ENST00000563243.1_RNA	p.A155fs	NM_153813.2	NP_722520.2	Q8IX07	FOG1_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0478)	5	786	+			155						Frame_Shift_Del	DEL	ENST00000319555.3	37	c.464delC	CCDS32502.1																																																																																				0.677	ZFPM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422270.2			2	4						2	4	---	---	---	---	-	88593283	C	-	88593283	7	5	250	1	0	1	0	1	0	0	0	0	17654	739	26	0	482	0	ZFPM1	16	88593283	Frame_Shift_Del	DEL	C	TCGA-HC-A6HY-01A-11D-A31L-08	69074234	88593283	1761470	29	11734											
MUC16	94025	broad.mit.edu	37	chr19	9069310	9069310	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatagcgtcctccatcatagAtccagtaacctttggaggtg	11	11	9	10	1	1	1	1	0	0	1	4	2	4	2	4	2	2	1	4	2	4	4			TCGA-HC-A6HY-01A-11D-A31L-08	TCGA-HC-A6HY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87d9162b-d9e0-48d2-817d-7a3fd2ab5cfe	69ff5580-dfde-4556-8960-ff3975b593be	g.chr19:9069310A>G	ENST00000397910.4	-	3	18339	c.18136T>C	c.(18136-18138)Tct>Cct	p.S6046P		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	6048	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TCCATCATAGATCCAGTAACC	0.458																																						ENST00000397910.4																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(18136-18138)Tct>Cct		mucin 16, cell surface associated							160	166	164					19																	9069310		2038	4193	6231	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9069310A>G	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.18136T>C	19.37:g.9069310A>G	ENSP00000381008:p.Ser6046Pro						p.S6046P	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			3	18339	-			6048			Thr-rich.		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.18136T>C	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	a	3.152	-0.174056	0.06421	.	.	ENSG00000181143	ENST00000397910	T	0.27557	1.66	1.11	-2.01	0.07410	.	.	.	.	.	T	0.21387	0.0515	L	0.46157	1.445	.	.	.	B	0.18968	0.032	B	0.15484	0.013	T	0.29088	-1.0023	8	0.87932	D	0	.	2.2182	0.03965	0.4426:0.3168:0.2406:0.0	.	6046	B5ME49	.	P	6046	ENSP00000381008:S6046P	ENSP00000381008:S6046P	S	-	1	0	MUC16	8930310	0.000000	0.05858	0.000000	0.03702	0.063000	0.16089	-0.275000	0.08525	-0.699000	0.05077	0.138000	0.15974	TCT		0.458	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		45	87	0	0	0	1	0	45	87					G	9069310	A	G	9069310	3	3	250	1	0	0	0	0	1	0	0	0	9973	333	12	4	25715	4	MUC16	19	9069310	Missense_Mutation	SNP	A	TCGA-HC-A6HY-01A-11D-A31L-08		9069310	50059673	30	11735											
CRTC1	23373	broad.mit.edu	37	chr19	18856727	18856727	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ggagcgtggccggctcggctCcccacaccgccggcccctgt	3	5	14	19	5	0	0	0	0	0	0	2	1	1	1	7	5	1	2	7	5	0	0			TCGA-HC-A6HY-01A-11D-A31L-08	TCGA-HC-A6HY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87d9162b-d9e0-48d2-817d-7a3fd2ab5cfe	69ff5580-dfde-4556-8960-ff3975b593be	g.chr19:18856727C>T	ENST00000321949.8	+	3	364	c.338C>T	c.(337-339)tCc>tTc	p.S113F	CRTC1_ENST00000601916.1_Missense_Mutation_p.S38F|CRTC1_ENST00000338797.6_Missense_Mutation_p.S129F|CRTC1_ENST00000594658.1_Missense_Mutation_p.S72F	NM_015321.2	NP_056136.2			CREB regulated transcription coactivator 1										CRTC1/MAML2(516)	NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|skin(1)	19						CGGCTCGGCTCCCCACACCGC	0.692																																						ENST00000338797.6																		CRTC1/MAML2(516)	0				NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|skin(1)	19						c.(385-387)tCc>tTc		CREB regulated transcription coactivator 1							31	37	35					19																	18856727		2203	4299	6502	SO:0001583	missense	23373				interspecies interaction between organisms|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	cAMP response element binding protein binding|protein binding	g.chr19:18856727C>T	AY040323	CCDS32963.1, CCDS42525.1	19p13	2012-07-31	2005-11-24	2005-11-24					16062	protein-coding gene	gene with protein product	"transducer of regulated cAMP response element-binding protein"	607536	"mucoepidermoid carcinoma translocated 1"	MECT1		12539049, 14536081, 14506290	Standard	NM_015321		Approved	KIAA0616, FLJ14027, TORC1	uc010ebv.3	Q6UUV9		ENST00000321949.8:c.338C>T	19.37:g.18856727C>T	ENSP00000323332:p.Ser113Phe					CRTC1_ENST00000321949.8_Missense_Mutation_p.S113F|CRTC1_ENST00000601916.1_Missense_Mutation_p.S38F|CRTC1_ENST00000594658.1_Missense_Mutation_p.S72F	p.S129F	NM_001098482.1	NP_001091952.1	Q6UUV9	CRTC1_HUMAN			4	411	+			113						Missense_Mutation	SNP	ENST00000321949.8	37	c.386C>T	CCDS32963.1	.	.	.	.	.	.	.	.	.	.	C	29.4	5.003304	0.93287	.	.	ENSG00000105662	ENST00000262813;ENST00000338797;ENST00000321949	T;T	0.15834	2.39;2.44	4.98	4.98	0.66077	.	0.000000	0.85682	D	0.000000	T	0.44891	0.1315	M	0.77103	2.36	0.80722	D	1	P;D	0.89917	0.531;1.0	B;D	0.87578	0.2;0.998	T	0.48364	-0.9042	10	0.87932	D	0	-31.9144	16.8448	0.85977	0.0:1.0:0.0:0.0	.	129;113	Q6UUV9-2;Q6UUV9	.;CRTC1_HUMAN	F	113;129;113	ENSP00000345001:S129F;ENSP00000323332:S113F	ENSP00000262813:S113F	S	+	2	0	CRTC1	18717727	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.378000	0.79679	2.332000	0.79248	0.555000	0.69702	TCC		0.692	CRTC1-002	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465151.3	NM_025021		35	62	0	0	0	1	0	35	62					T	18856727	C	T	18856727	3	4	250	1	0	0	0	0	1	0	0	0	3899	855	30	3	400	3	CRTC1	19	18856727	Missense_Mutation	SNP	C	TCGA-HC-A6HY-01A-11D-A31L-08	9787417	18856727	40272256	31	11736											
RFXANK	8625	broad.mit.edu	37	chr19	19309477	19309477	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccacgacagaatggagggacGccactgctgtacgctgtgcg	9	6	14	12	4	0	1	0	0	0	1	0	4	0	3	2	2	3	3	2	2	2	1			TCGA-HC-A6HY-01A-11D-A31L-08	TCGA-HC-A6HY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87d9162b-d9e0-48d2-817d-7a3fd2ab5cfe	69ff5580-dfde-4556-8960-ff3975b593be	g.chr19:19309477G>A	ENST00000303088.4	+	8	1050	c.576G>A	c.(574-576)acG>acA	p.T192T	RFXANK_ENST00000353145.1_Silent_p.T169T|RFXANK_ENST00000407360.3_Silent_p.T192T|RFXANK_ENST00000392324.4_Silent_p.T169T|RFXANK_ENST00000456252.3_Silent_p.T170T	NM_003721.2	NP_003712.1	O14593	RFXK_HUMAN	regulatory factor X-associated ankyrin-containing protein	192					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|Ras protein signal transduction (GO:0007265)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription cofactor activity (GO:0003712)			NS(1)|breast(1)|endometrium(1)|lung(8)|ovary(2)|prostate(1)	14			Epithelial(12;0.00228)			ATGGAGGGACGCCACTGCTGT	0.592																																						ENST00000303088.4																			0				NS(1)|breast(1)|endometrium(1)|lung(8)|ovary(2)|prostate(1)	14						c.(574-576)acG>acA		regulatory factor X-associated ankyrin-containing protein							92	81	85					19																	19309477		2203	4300	6503	SO:0001819	synonymous_variant	8625					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity	g.chr19:19309477G>A	AF094760	CCDS12395.1, CCDS12396.1, CCDS62611.1	19p12	2014-09-17			ENSG00000064490	ENSG00000064490		"Ankyrin repeat domain containing"	9987	protein-coding gene	gene with protein product	"ankyrin repeat-containing regulatory factor X-associated protein", "regulatory factor X subunit B", "RFX-Bdelta4", "DNA-binding protein RFXANK"	603200				9806546, 10072068	Standard	NM_003721		Approved	BLS, RFX-B, ANKRA1, F14150_1, MGC138628	uc002nls.3	O14593	OTTHUMG00000169224	ENST00000303088.4:c.576G>A	19.37:g.19309477G>A						RFXANK_ENST00000456252.3_Silent_p.T170T|RFXANK_ENST00000392324.4_Silent_p.T169T|RFXANK_ENST00000353145.1_Silent_p.T169T|RFXANK_ENST00000407360.3_Silent_p.T192T	p.T192T	NM_003721.2	NP_003712.1	O14593	RFXK_HUMAN	Epithelial(12;0.00228)		8	1050	+			192					O95839|Q24JQ1|Q6FGA8	Silent	SNP	ENST00000303088.4	37	c.576G>A	CCDS12395.1																																																																																				0.592	RFXANK-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402923.2	NM_003721		34	61	0	0	0	1	0	34	61					A	19309477	G	A	19309477	2	1	250	1	0	0	0	0	0	0	0	1	13269	1074	38	1		1	RFXANK	19	19309477	Silent	SNP	G	TCGA-HC-A6HY-01A-11D-A31L-08	452750	19309477	39819506	32	11737											
GPR112	139378	broad.mit.edu	37	chrX	135487899	135487899	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tacatctcagtggtggcttaTttttgcctcatatttctcat	7	19	6	9	0	3	0	3	0	2	0	5	0	3	0	1	2	2	1	1	2	3	6			TCGA-HC-A6HY-01A-11D-A31L-08	TCGA-HC-A6HY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87d9162b-d9e0-48d2-817d-7a3fd2ab5cfe	69ff5580-dfde-4556-8960-ff3975b593be	g.chrX:135487899T>C	ENST00000394143.1	+	23	8994	c.8703T>C	c.(8701-8703)taT>taC	p.Y2901Y	GPR112_ENST00000287534.4_Silent_p.Y2654Y|GPR112_ENST00000394141.1_Silent_p.Y2696Y|GPR112_ENST00000412101.1_Silent_p.Y2696Y|GPR112_ENST00000370652.1_Silent_p.Y2901Y	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	2901					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					TGGTGGCTTATTTTTGCCTCA	0.368																																						ENST00000394143.1																			0				NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199						c.(8701-8703)taT>taC		G protein-coupled receptor 112							190	155	167					X																	135487899		2203	4300	6503	SO:0001819	synonymous_variant	139378				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chrX:135487899T>C	AY140954	CCDS35409.1	Xq26.3	2014-08-08			ENSG00000156920	ENSG00000156920		"-", "GPCR / Class B : Orphans"	18992	protein-coding gene	gene with protein product						12435584	Standard	XM_005262367		Approved	RP1-299I16, PGR17	uc004ezu.1	Q8IZF6	OTTHUMG00000022508	ENST00000394143.1:c.8703T>C	X.37:g.135487899T>C						GPR112_ENST00000370652.1_Silent_p.Y2901Y|GPR112_ENST00000287534.4_Silent_p.Y2654Y|GPR112_ENST00000412101.1_Silent_p.Y2696Y|GPR112_ENST00000394141.1_Silent_p.Y2696Y	p.Y2901Y	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN			23	8994	+	Acute lymphoblastic leukemia(192;0.000127)		2901					A2A2J1|A2A2J2|Q5EGP2|Q86SM6	Silent	SNP	ENST00000394143.1	37	c.8703T>C	CCDS35409.1																																																																																				0.368	GPR112-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000286639.1			4	29	0	0	0	1	0	4	29					C	135487899	T	C	135487899	2	2	250	1	0	0	0	0	0	0	0	1	6629	1500	52	4		4	GPR112	23	135487899	Silent	SNP	T	TCGA-HC-A6HY-01A-11D-A31L-08		135487899	19782661	33	11738											
AFF2	2334	broad.mit.edu	37	chrX	148069054	148069054	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tacggggctatgaacactggGatatggccgacaaactgaca	13	7	12	9	2	0	2	0	2	0	0	0	4	0	3	1	4	3	1	1	4	5	3			TCGA-HC-A6HY-01A-11D-A31L-08	TCGA-HC-A6HY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87d9162b-d9e0-48d2-817d-7a3fd2ab5cfe	69ff5580-dfde-4556-8960-ff3975b593be	g.chrX:148069054G>T	ENST00000370460.2	+	20	4260	c.3781G>T	c.(3781-3783)Gat>Tat	p.D1261Y	AFF2_ENST00000342251.3_Missense_Mutation_p.D1228Y|AFF2_ENST00000370457.5_Missense_Mutation_p.D1226Y|AFF2_ENST00000286437.5_Missense_Mutation_p.D902Y	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN	AF4/FMR2 family, member 2	1261					brain development (GO:0007420)|learning or memory (GO:0007611)|mRNA processing (GO:0006397)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nuclear speck (GO:0016607)	G-quadruplex RNA binding (GO:0002151)			breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					TGAACACTGGGATATGGCCGA	0.478																																						ENST00000370460.2																			0				breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109						c.(3781-3783)Gat>Tat		AF4/FMR2 family, member 2							199	154	169					X																	148069054		2203	4300	6503	SO:0001583	missense	2334				brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding	g.chrX:148069054G>T	U48436	CCDS14684.1, CCDS55521.1, CCDS76040.1	Xq28	2008-02-05	2005-06-27	2005-06-27	ENSG00000155966	ENSG00000155966			3776	protein-coding gene	gene with protein product		300806	"fragile X mental retardation 2"	FMR2			Standard	NM_002025		Approved	FRAXE	uc004fcp.3	P51816	OTTHUMG00000022613	ENST00000370460.2:c.3781G>T	X.37:g.148069054G>T	ENSP00000359489:p.Asp1261Tyr					AFF2_ENST00000342251.3_Missense_Mutation_p.D1228Y|AFF2_ENST00000286437.5_Missense_Mutation_p.D902Y|AFF2_ENST00000370457.5_Missense_Mutation_p.D1226Y	p.D1261Y	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN			20	4260	+	Acute lymphoblastic leukemia(192;6.56e-05)		1261					A2RTY4|B4DXD5|B7WNQ1|B7ZLD6|B7ZLD9|O43786|O60215|P78407|Q13521|Q14323|Q7Z2F7|Q7Z400|Q9UNA5	Missense_Mutation	SNP	ENST00000370460.2	37	c.3781G>T	CCDS14684.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.338626	0.81911	.	.	ENSG00000155966	ENST00000370460;ENST00000370457;ENST00000342251;ENST00000286437	T;T;T;T	0.69926	-0.44;-0.44;-0.44;-0.44	5.74	4.87	0.63330	.	0.119263	0.53938	D	0.000043	T	0.82093	0.4962	M	0.77820	2.39	0.80722	D	1	D;D;D;P;P;D	0.76494	0.997;0.999;0.997;0.956;0.956;0.964	D;D;D;P;P;P	0.85130	0.993;0.997;0.996;0.66;0.66;0.771	D	0.84637	0.0693	10	0.87932	D	0	.	15.8962	0.79336	0.0:0.1319:0.8681:0.0	.	902;1226;1226;1222;1251;1261	B4DXD5;P51816-6;P51816-3;P51816-2;P51816-5;P51816	.;.;.;.;.;AFF2_HUMAN	Y	1261;1226;1228;902	ENSP00000359489:D1261Y;ENSP00000359486:D1226Y;ENSP00000345459:D1228Y;ENSP00000286437:D902Y	ENSP00000286437:D902Y	D	+	1	0	AFF2	147876760	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	9.827000	0.99397	1.175000	0.42826	-0.229000	0.12294	GAT		0.478	AFF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058673.2	NM_002025		46	23	1	0	1.19451e-25	1	1.28882e-25	46	23					T	148069054	G	T	148069054	3	4	250	1	0	0	0	0	1	0	0	0	357	1174	41	5	3914	5	AFF2	23	148069054	Missense_Mutation	SNP	G	TCGA-HC-A6HY-01A-11D-A31L-08	12581155	148069054	7201506	34	11739											
RUNX3	864	broad.mit.edu	37	chr1	25233874	25233874	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tccccaaagcggtcagggaaCggcttggtctggtcctccag	7	8	13	13	2	2	0	1	0	1	0	5	1	5	1	4	5	2	1	4	5	2	1			TCGA-HC-A76W-01A-11D-A33T-08	TCGA-HC-A76W-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de77175f-808b-4fb9-9413-5e99254a9325	0f5b9970-388e-406b-ba7a-bad4b7724b53	g.chr1:25233874C>T	ENST00000308873.6	-	4	587	c.579G>A	c.(577-579)ccG>ccA	p.P193P	RUNX3_ENST00000338888.3_Silent_p.P207P|RUNX3_ENST00000496967.1_5'UTR|RUNX3_ENST00000540420.1_Silent_p.P100P|RUNX3_ENST00000399916.1_Silent_p.P207P	NM_004350.2	NP_004341.1	Q13761	RUNX3_HUMAN	runt-related transcription factor 3	193	Pro/Ser/Thr-rich.				axon guidance (GO:0007411)|cell maturation (GO:0048469)|chondrocyte differentiation (GO:0002062)|hair follicle morphogenesis (GO:0031069)|interferon-gamma production (GO:0032609)|negative regulation of cell cycle (GO:0045786)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|peripheral nervous system neuron development (GO:0048935)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	ATP binding (GO:0005524)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(3)	18		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00131)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0419)|OV - Ovarian serous cystadenocarcinoma(117;2.85e-26)|Colorectal(126;4.35e-08)|COAD - Colon adenocarcinoma(152;1.92e-06)|GBM - Glioblastoma multiforme(114;0.000102)|STAD - Stomach adenocarcinoma(196;0.000766)|KIRC - Kidney renal clear cell carcinoma(1967;0.00148)|BRCA - Breast invasive adenocarcinoma(304;0.00173)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.136)		GGTCAGGGAACGGCTTGGTCT	0.632																																						ENST00000399916.1																			0				endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(3)	18						c.(619-621)ccG>ccA		runt-related transcription factor 3							54	48	50					1																	25233874		2203	4300	6503	SO:0001819	synonymous_variant	864				cell proliferation|induction of apoptosis|negative regulation of cell cycle|negative regulation of epithelial cell proliferation|protein phosphorylation|transcription from RNA polymerase II promoter	cytoplasm|nucleus	ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr1:25233874C>T	BC013362	CCDS257.1, CCDS30633.1	1p36	2008-02-05			ENSG00000020633	ENSG00000020633			10473	protein-coding gene	gene with protein product		600210		CBFA3		7835892	Standard	NM_001031680		Approved	AML2, PEBP2A3	uc001bjq.3	Q13761	OTTHUMG00000003316	ENST00000308873.6:c.579G>A	1.37:g.25233874C>T						RUNX3_ENST00000338888.3_Silent_p.P207P|RUNX3_ENST00000308873.6_Silent_p.P193P|RUNX3_ENST00000540420.1_Silent_p.P100P|RUNX3_ENST00000496967.1_5'UTR	p.P207P	NM_001031680.2	NP_001026850.1	Q13761	RUNX3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0419)|OV - Ovarian serous cystadenocarcinoma(117;2.85e-26)|Colorectal(126;4.35e-08)|COAD - Colon adenocarcinoma(152;1.92e-06)|GBM - Glioblastoma multiforme(114;0.000102)|STAD - Stomach adenocarcinoma(196;0.000766)|KIRC - Kidney renal clear cell carcinoma(1967;0.00148)|BRCA - Breast invasive adenocarcinoma(304;0.00173)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.136)	5	1059	-		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00131)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)	193			Pro/Ser/Thr-rich.		B1AJV5|Q12969|Q13760	Silent	SNP	ENST00000308873.6	37	c.621G>A	CCDS257.1																																																																																				0.632	RUNX3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000009284.1	NM_004350		12	31	0	0	0	1	0	12	31					T	25233874	C	T	25233874	2	4	251	1	0	0	0	0	0	0	0	1	13749	523	19	1		1	RUNX3	1	25233874	Silent	SNP	C	TCGA-HC-A76W-01A-11D-A33T-08		25233874	224016747	1	11740											
RPF1	80135	broad.mit.edu	37	chr1	84961652	84961652	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtcattcaattggacgtatgTttgcatctctctttcctcat	7	18	6	10	1	5	0	3	0	2	0	7	1	6	1	1	1	1	3	1	1	2	5			TCGA-HC-A76W-01A-11D-A33T-08	TCGA-HC-A76W-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de77175f-808b-4fb9-9413-5e99254a9325	0f5b9970-388e-406b-ba7a-bad4b7724b53	g.chr1:84961652T>G	ENST00000370654.5	+	7	802	c.787T>G	c.(787-789)Ttt>Gtt	p.F263V	GNG5_ENST00000487806.1_5'Flank	NM_025065.6	NP_079341.2	Q9H9Y2	RPF1_HUMAN	ribosome production factor 1 homolog (S. cerevisiae)	263	Brix. {ECO:0000255|PROSITE- ProRule:PRU00034}.				rRNA processing (GO:0006364)	nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|rRNA binding (GO:0019843)			breast(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(2)|prostate(1)	14						TGGACGTATGTTTGCATCTCT	0.398																																						ENST00000370654.5																			0				breast(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(2)|prostate(1)	14						c.(787-789)Ttt>Gtt		ribosome production factor 1 homolog (S. cerevisiae)							114	104	108					1																	84961652		2203	4300	6503	SO:0001583	missense	80135				rRNA processing|translation	nucleolus	aminoacyl-tRNA ligase activity|ATP binding|rRNA binding	g.chr1:84961652T>G	AF322053	CCDS695.1	1p22.3	2009-09-25	2009-09-25	2009-09-25	ENSG00000117133	ENSG00000117133			30350	protein-coding gene	gene with protein product	"RNA processing factor 1", "ribosome production factor 1"		"brix domain containing 5"	BXDC5		11864606	Standard	NM_025065		Approved		uc001djv.4	Q9H9Y2	OTTHUMG00000009857	ENST00000370654.5:c.787T>G	1.37:g.84961652T>G	ENSP00000359688:p.Phe263Val						p.F263V	NM_025065.6	NP_079341.2	Q9H9Y2	RPF1_HUMAN			7	802	+			263			Brix.		Q5VSK7|Q6AHX1|Q8WXZ8	Missense_Mutation	SNP	ENST00000370654.5	37	c.787T>G	CCDS695.1	.	.	.	.	.	.	.	.	.	.	T	22.7	4.330343	0.81690	.	.	ENSG00000117133	ENST00000370654	T	0.30182	1.54	5.96	3.66	0.41972	Brix domain (3);Anticodon-binding (1);	0.094127	0.85682	N	0.000000	T	0.35856	0.0946	M	0.85041	2.73	0.58432	D	0.999999	P	0.48640	0.913	P	0.52957	0.714	T	0.35748	-0.9776	10	0.66056	D	0.02	-9.8529	8.5796	0.33621	0.0:0.0666:0.1315:0.8019	.	263	Q9H9Y2	RPF1_HUMAN	V	263	ENSP00000359688:F263V	ENSP00000359688:F263V	F	+	1	0	RPF1	84734240	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	3.240000	0.51368	1.065000	0.40693	-0.313000	0.08912	TTT		0.398	RPF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027238.1	NM_025065		17	35	0	0	0	1	0	17	35					G	84961652	T	G	84961652	3	3	251	1	0	0	0	0	1	0	0	0	13546	1725	60	5	813	5	RPF1	1	84961652	Missense_Mutation	SNP	T	TCGA-HC-A76W-01A-11D-A33T-08	59727778	84961652	164288969	2	11741											
SLAMF9	89886	broad.mit.edu	37	chr1	159922246	159922246	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccatgcctgccttctccacaGagcacaccagggacatactg	10	7	8	16	0	1	1	0	0	1	1	2	2	1	2	5	1	4	1	5	1	1	2			TCGA-HC-A76W-01A-11D-A33T-08	TCGA-HC-A76W-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de77175f-808b-4fb9-9413-5e99254a9325	0f5b9970-388e-406b-ba7a-bad4b7724b53	g.chr1:159922246G>A	ENST00000368093.3	-	3	586	c.470C>T	c.(469-471)tCt>tTt	p.S157F	SLAMF9_ENST00000368092.3_Intron|SLAMF9_ENST00000466773.1_5'UTR	NM_033438.3	NP_254273.2	Q96A28	SLAF9_HUMAN	SLAM family member 9	157	Ig-like C2-type.					integral component of membrane (GO:0016021)	receptor activity (GO:0004872)	p.S157Y(1)		breast(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1)	13	all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			CTTCTCCACAGAGCACACCAG	0.547																																						ENST00000368093.3																			1	Substitution - Missense(1)	p.S157Y(1)	ovary(1)	breast(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1)	13						c.(469-471)tCt>tTt		SLAM family member 9							145	139	141					1																	159922246		2203	4300	6503	SO:0001583	missense	89886					integral to membrane		g.chr1:159922246G>A	AY034613	CCDS1191.1, CCDS53392.1	1q23.1	2013-01-11			ENSG00000162723	ENSG00000162723		"Immunoglobulin superfamily / V-set domain containing"	18430	protein-coding gene	gene with protein product		608589				11685473	Standard	NM_033438		Approved	CD2F-10, CD84-H1, SF2001	uc001fus.3	Q96A28	OTTHUMG00000024074	ENST00000368093.3:c.470C>T	1.37:g.159922246G>A	ENSP00000357072:p.Ser157Phe					SLAMF9_ENST00000466773.1_5'UTR|SLAMF9_ENST00000368092.3_Intron	p.S157F	NM_033438.3	NP_254273.2	Q96A28	SLAF9_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)		3	586	-	all_hematologic(112;0.093)		157			Ig-like C2-type.		Q5JRQ9|Q5JRR0|Q6UWG1	Missense_Mutation	SNP	ENST00000368093.3	37	c.470C>T	CCDS1191.1	.	.	.	.	.	.	.	.	.	.	G	17.11	3.305315	0.60305	.	.	ENSG00000162723	ENST00000368093	T	0.04119	3.7	4.89	2.73	0.32206	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.395756	0.28635	N	0.014643	T	0.03915	0.0110	M	0.72118	2.19	0.09310	N	1	P	0.37441	0.595	P	0.45881	0.496	T	0.28586	-1.0039	9	.	.	.	-1.0116	7.0579	0.25109	0.1017:0.0:0.717:0.1813	.	157	Q96A28	SLAF9_HUMAN	F	157	ENSP00000357072:S157F	.	S	-	2	0	SLAMF9	158188870	0.812000	0.29077	0.031000	0.17742	0.789000	0.44602	0.960000	0.29253	1.027000	0.39758	0.650000	0.86243	TCT		0.547	SLAMF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060630.1	NM_033438		14	100	0	0	0	1	0	14	100					A	159922246	G	A	159922246	3	1	251	1	0	0	0	0	1	0	0	0	14371	942	33	3	407	3	SLAMF9	1	159922246	Missense_Mutation	SNP	G	TCGA-HC-A76W-01A-11D-A33T-08	74960594	159922246	89328375	3	11742											
IKBKE	9641	broad.mit.edu	37	chr1	206653815	206653815	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctccaggccacatgcagaCggactctggaagtggcaagg	10	6	14	11	1	1	1	0	0	1	1	2	3	2	3	2	5	2	3	2	5	2	0			TCGA-HC-A76W-01A-11D-A33T-08	TCGA-HC-A76W-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de77175f-808b-4fb9-9413-5e99254a9325	0f5b9970-388e-406b-ba7a-bad4b7724b53	g.chr1:206653815C>T	ENST00000367120.3	+	13	1739	c.1366C>T	c.(1366-1368)Cgg>Tgg	p.R456W	IKBKE_ENST00000537984.1_Missense_Mutation_p.R371W	NM_001193322.1|NM_014002.3	NP_001180251.1|NP_054721.1	Q14164	IKKE_HUMAN	inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase epsilon	456	Interaction with DDX3X.|Leucine-zipper.				immune response (GO:0006955)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of type I interferon production (GO:0032480)|NIK/NF-kappaB signaling (GO:0038061)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|protein phosphorylation (GO:0006468)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome membrane (GO:0010008)|nucleus (GO:0005634)|PML body (GO:0016605)	ATP binding (GO:0005524)|IkappaB kinase activity (GO:0008384)|NF-kappaB-inducing kinase activity (GO:0004704)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|ovary(3)|skin(2)	32	Breast(84;0.137)					CACATGCAGACGGACTCTGGA	0.627																																						ENST00000367120.3																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|ovary(3)|skin(2)	32						c.(1366-1368)Cgg>Tgg		inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase epsilon							103	75	85					1																	206653815		2203	4300	6503	SO:0001583	missense	0				DNA damage response, signal transduction resulting in induction of apoptosis|innate immune response|MyD88-independent toll-like receptor signaling pathway|negative regulation of type I interferon production|positive regulation of I-kappaB kinase/NF-kappaB cascade|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane|PML body	ATP binding|IkappaB kinase activity|NF-kappaB-inducing kinase activity|protein binding	g.chr1:206653815C>T	AB016590	CCDS30996.1, CCDS53464.1, CCDS73019.1	1q31	2014-05-06			ENSG00000143466				14552	protein-coding gene	gene with protein product		605048				10421793, 10882136	Standard	NM_001193321		Approved	IKKE, IKK-i, KIAA0151	uc001hdz.2	Q14164	OTTHUMG00000184613	ENST00000367120.3:c.1366C>T	1.37:g.206653815C>T	ENSP00000356087:p.Arg456Trp					IKBKE_ENST00000462698.1_3'UTR|IKBKE_ENST00000537984.1_Missense_Mutation_p.R371W	p.R456W	NM_001193322.1|NM_014002.3	NP_001180251.1|NP_054721.1	Q14164	IKKE_HUMAN			13	1739	+	Breast(84;0.137)		456			Leucine-zipper.		D3DT78|Q3B754|Q3KR43|Q5JTS6	Missense_Mutation	SNP	ENST00000367120.3	37	c.1366C>T	CCDS30996.1	.	.	.	.	.	.	.	.	.	.	c	17.20	3.327825	0.60743	.	.	ENSG00000143466	ENST00000367120;ENST00000537984	T;T	0.64260	-0.09;0.06	4.73	4.73	0.59995	.	0.670240	0.15459	N	0.261206	T	0.65026	0.2652	L	0.50333	1.59	0.19775	N	0.99995	D;D	0.69078	0.996;0.997	P;P	0.50192	0.549;0.634	T	0.60722	-0.7207	10	0.72032	D	0.01	2.5901	13.6169	0.62115	0.0:1.0:0.0:0.0	.	371;456	Q3B754;Q14164	.;IKKE_HUMAN	W	456;371	ENSP00000356087:R456W;ENSP00000444529:R371W	ENSP00000356087:R456W	R	+	1	2	IKBKE	204720438	0.424000	0.25490	0.908000	0.35775	0.265000	0.26407	1.675000	0.37555	2.342000	0.79632	0.550000	0.68814	CGG		0.627	IKBKE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088484.1			9	21	0	0	0	1	0	9	21					T	206653815	C	T	206653815	3	4	251	1	0	0	0	0	1	0	0	0	7612	527	19	1	1408	1	IKBKE	1	206653815	Missense_Mutation	SNP	C	TCGA-HC-A76W-01A-11D-A33T-08	46731569	206653815	42596806	4	11743											
SIPA1L2	57568	broad.mit.edu	37	chr1	232601028	232601028	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttgctcgaaacttttctgatTtatgggctgcattttctgca	7	18	8	8	1	2	1	0	1	2	0	3	2	2	1	0	1	4	4	0	1	2	7			TCGA-HC-A76W-01A-11D-A33T-08	TCGA-HC-A76W-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de77175f-808b-4fb9-9413-5e99254a9325	0f5b9970-388e-406b-ba7a-bad4b7724b53	g.chr1:232601028T>G	ENST00000366630.1	-	8	2736	c.2378A>C	c.(2377-2379)aAa>aCa	p.K793T	SIPA1L2_ENST00000262861.4_Missense_Mutation_p.K793T|SIPA1L2_ENST00000308942.4_5'Flank			Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like 2	793	Rap-GAP. {ECO:0000255|PROSITE- ProRule:PRU00165}.				regulation of small GTPase mediated signal transduction (GO:0051056)		GTPase activator activity (GO:0005096)			NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				CTTTTCTGATTTATGGGCTGC	0.483																																						ENST00000366630.1																			0				NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103						c.(2377-2379)aAa>aCa		signal-induced proliferation-associated 1 like 2							99	98	98					1																	232601028		1951	4189	6140	SO:0001583	missense	57568				regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity	g.chr1:232601028T>G	AB037810	CCDS41474.1	1q42.2	2008-02-05			ENSG00000116991	ENSG00000116991			23800	protein-coding gene	gene with protein product		611609					Standard	NM_020808		Approved	KIAA1389	uc001hvg.3	Q9P2F8	OTTHUMG00000037820	ENST00000366630.1:c.2378A>C	1.37:g.232601028T>G	ENSP00000355589:p.Lys793Thr					SIPA1L2_ENST00000262861.4_Missense_Mutation_p.K793T	p.K793T			Q9P2F8	SI1L2_HUMAN			8	2736	-		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)	793			Rap-GAP.		Q2TV88|Q5VXR7|Q5VXR8|Q641Q4|Q8NA38|Q96DZ3|Q9H9F6	Missense_Mutation	SNP	ENST00000366630.1	37	c.2378A>C	CCDS41474.1	.	.	.	.	.	.	.	.	.	.	T	24.1	4.496928	0.85069	.	.	ENSG00000116991	ENST00000366630;ENST00000262861	T;T	0.50813	0.73;0.73	5.8	5.8	0.92144	Rap/ran-GAP (2);	0.000000	0.85682	D	0.000000	T	0.73466	0.3590	M	0.87971	2.92	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.78863	-0.2036	10	0.87932	D	0	-29.8055	16.143	0.81539	0.0:0.0:0.0:1.0	.	793	Q9P2F8	SI1L2_HUMAN	T	793	ENSP00000355589:K793T;ENSP00000262861:K793T	ENSP00000262861:K793T	K	-	2	0	SIPA1L2	230667651	1.000000	0.71417	0.985000	0.45067	0.889000	0.51656	8.040000	0.89188	2.206000	0.71126	0.528000	0.53228	AAA		0.483	SIPA1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092318.1	XM_045839		34	82	0	0	0	1	0	34	82					G	232601028	T	G	232601028	3	3	251	1	0	0	0	0	1	0	0	0	14330	1841	64	5	2850	5	SIPA1L2	1	232601028	Missense_Mutation	SNP	T	TCGA-HC-A76W-01A-11D-A33T-08	25947213	232601028	16649593	5	11744											
TTN	7273	broad.mit.edu	37	chr2	179418324	179418324	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cccggaagtagtaattgactCcaggtttcaggttggatacc	10	11	11	9	1	1	1	1	1	0	0	2	3	2	3	3	4	1	4	3	4	4	6			TCGA-HC-A76W-01A-11D-A33T-08	TCGA-HC-A76W-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de77175f-808b-4fb9-9413-5e99254a9325	0f5b9970-388e-406b-ba7a-bad4b7724b53	g.chr2:179418324C>T	ENST00000591111.1	-	284	84709	c.84485G>A	c.(84484-84486)gGa>gAa	p.G28162E	TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.G20930E|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590807.1_RNA|RP11-65L3.2_ENST00000603415.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.G27235E|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.G20863E|TTN_ENST00000460472.2_Missense_Mutation_p.G20738E|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.G29803E|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586707.1_RNA			Q8WZ42	TITIN_HUMAN	titin	28162	Fibronectin type-III 105. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GTAATTGACTCCAGGTTTCAG	0.423																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(89407-89409)gGa>gAa		titin							120	117	118					2																	179418324		1905	4130	6035	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179418324C>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.84485G>A	2.37:g.179418324C>T	ENSP00000465570:p.Gly28162Glu					TTN_ENST00000359218.5_Missense_Mutation_p.G20863E|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.G20738E|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.G20930E|TTN_ENST00000591111.1_Missense_Mutation_p.G28162E|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.G27235E|TTN-AS1_ENST00000586707.1_RNA	p.G29803E	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		334	89632	-			28162			Fibronectin type-III 117.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.89408G>A		.	.	.	.	.	.	.	.	.	.	C	14.06	2.423324	0.43020	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.62232	0.04;0.04;0.04;0.04	5.6	3.78	0.43462	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.74891	0.3776	M	0.71581	2.175	0.45791	D	0.998673	D;D;D;D	0.63880	0.993;0.993;0.993;0.988	P;P;P;P	0.58721	0.844;0.844;0.844;0.844	T	0.79082	-0.1949	9	0.87932	D	0	.	16.5642	0.84574	0.0:0.754:0.246:0.0	.	20738;20863;20930;28162	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	E	27235;20738;20930;20863;20735	ENSP00000343764:G27235E;ENSP00000434586:G20738E;ENSP00000340554:G20930E;ENSP00000352154:G20863E	ENSP00000340554:G20930E	G	-	2	0	TTN	179126570	0.996000	0.38824	1.000000	0.80357	0.870000	0.49936	2.684000	0.46951	0.818000	0.34468	-0.948000	0.02665	GGA		0.423	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		4	58	0	0	0	1	0	4	58					T	179418324	C	T	179418324	3	4	251	1	0	0	0	0	1	0	0	0	16732	855	30	3	18687	3	TTN	2	179418324	Missense_Mutation	SNP	C	TCGA-HC-A76W-01A-11D-A33T-08		179418324	63781049	6	11745											
DYTN	391475	broad.mit.edu	37	chr2	207564545	207564545	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccggtggcaggtcgggagccAcaggaggatgggaggctcag	8	4	20	9	2	1	0	1	0	0	0	2	4	1	4	2	8	1	2	2	8	0	0			TCGA-HC-A76W-01A-11D-A33T-08	TCGA-HC-A76W-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de77175f-808b-4fb9-9413-5e99254a9325	0f5b9970-388e-406b-ba7a-bad4b7724b53	g.chr2:207564545A>G	ENST00000452335.2	-	7	741	c.625T>C	c.(625-627)Tgg>Cgg	p.W209R	DYTN_ENST00000477734.1_5'UTR|Y_RNA_ENST00000384589.1_RNA	NM_001093730.1	NP_001087199.1	A2CJ06	DYTN_HUMAN	dystrotelin	209						plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(24)|ovary(1)|upper_aerodigestive_tract(1)	36				LUSC - Lung squamous cell carcinoma(261;0.082)|Epithelial(149;0.129)|Lung(261;0.153)		GTCGGGAGCCACAGGAGGATG	0.522																																						ENST00000452335.2																			0				breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(24)|ovary(1)|upper_aerodigestive_tract(1)	36						c.(625-627)Tgg>Cgg		dystrotelin							70	77	75					2																	207564545		1967	4168	6135	SO:0001583	missense	391475					plasma membrane	zinc ion binding	g.chr2:207564545A>G	ABF55377	CCDS46502.1	2q33.3	2007-01-22			ENSG00000232125	ENSG00000232125			23279	protein-coding gene	gene with protein product						17233888	Standard	NM_001093730		Approved		uc002vbr.1	A2CJ06	OTTHUMG00000154729	ENST00000452335.2:c.625T>C	2.37:g.207564545A>G	ENSP00000396593:p.Trp209Arg					DYTN_ENST00000477734.1_5'UTR	p.W209R	NM_001093730.1	NP_001087199.1	A2CJ06	DYTN_HUMAN		LUSC - Lung squamous cell carcinoma(261;0.082)|Epithelial(149;0.129)|Lung(261;0.153)	7	741	-			209						Missense_Mutation	SNP	ENST00000452335.2	37	c.625T>C	CCDS46502.1	.	.	.	.	.	.	.	.	.	.	A	19.94	3.919757	0.73098	.	.	ENSG00000232125	ENST00000452335	D	0.87729	-2.29	5.89	4.73	0.59995	EF-hand domain, type 2 (1);	.	.	.	.	D	0.91663	0.7365	M	0.85859	2.78	0.39333	D	0.965446	D	0.57899	0.981	P	0.56514	0.8	D	0.93087	0.6496	9	0.87932	D	0	-6.4808	10.842	0.46722	0.9277:0.0:0.0723:0.0	.	209	A2CJ06	DYTN_HUMAN	R	209	ENSP00000396593:W209R	ENSP00000396593:W209R	W	-	1	0	DYTN	207272790	1.000000	0.71417	1.000000	0.80357	0.882000	0.50991	5.122000	0.64697	2.254000	0.74563	0.459000	0.35465	TGG		0.522	DYTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336799.1			10	18	0	0	0	1	0	10	18					G	207564545	A	G	207564545	3	3	251	1	0	0	0	0	1	0	0	0	4861	159	6	4	1135	4	DYTN	2	207564545	Missense_Mutation	SNP	A	TCGA-HC-A76W-01A-11D-A33T-08	28146221	207564545	35634828	7	11746											
STAC	6769	broad.mit.edu	37	chr3	36570362	36570362	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gaaaattcaagacagaattgGcttctttccagccaactttg	13	12	7	9	0	2	2	1	0	1	2	3	3	3	2	2	1	2	1	2	1	5	5			TCGA-HC-A76W-01A-11D-A33T-08	TCGA-HC-A76W-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de77175f-808b-4fb9-9413-5e99254a9325	0f5b9970-388e-406b-ba7a-bad4b7724b53	g.chr3:36570362G>T	ENST00000273183.3	+	10	1295	c.995G>T	c.(994-996)gGc>gTc	p.G332V	STAC_ENST00000457375.2_Missense_Mutation_p.G271V	NM_003149.1	NP_003140.1	Q99469	STAC_HUMAN	SH3 and cysteine rich domain	332	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				cellular response to heat (GO:0034605)|intracellular signal transduction (GO:0035556)|signal transduction (GO:0007165)	cytosol (GO:0005829)	metal ion binding (GO:0046872)			endometrium(5)|large_intestine(9)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(5)	32						GACAGAATTGGCTTCTTTCCA	0.358																																						ENST00000273183.3																			0				endometrium(5)|large_intestine(9)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(5)	32						c.(994-996)gGc>gTc		SH3 and cysteine rich domain							71	70	70					3																	36570362		2203	4300	6503	SO:0001583	missense	6769				intracellular signal transduction	cytoplasm|soluble fraction	metal ion binding	g.chr3:36570362G>T	D86640	CCDS2662.1	3p22.3	2007-06-08			ENSG00000144681	ENSG00000144681			11353	protein-coding gene	gene with protein product		602317	"src homology three (SH3) and cysteine rich domain"			8954993, 10393425	Standard	XM_006713308		Approved	STAC1	uc003cgh.1	Q99469	OTTHUMG00000130798	ENST00000273183.3:c.995G>T	3.37:g.36570362G>T	ENSP00000273183:p.Gly332Val					STAC_ENST00000457375.2_Missense_Mutation_p.G271V	p.G332V	NM_003149.1	NP_003140.1	Q99469	STAC_HUMAN			10	1295	+			332			SH3.		B2R8S8	Missense_Mutation	SNP	ENST00000273183.3	37	c.995G>T	CCDS2662.1	.	.	.	.	.	.	.	.	.	.	G	26.1	4.705262	0.89018	.	.	ENSG00000144681	ENST00000273183;ENST00000457375;ENST00000544687	D;D	0.88201	-2.35;-2.35	5.45	5.45	0.79879	Src homology-3 domain (5);Spectrin alpha chain, SH3 domain (1);	0.047283	0.85682	D	0.000000	D	0.96719	0.8929	H	0.96805	3.885	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.994	D	0.97705	1.0187	10	0.87932	D	0	.	19.2706	0.94008	0.0:0.0:1.0:0.0	.	271;332	E9PEA7;Q99469	.;STAC_HUMAN	V	332;271;264	ENSP00000273183:G332V;ENSP00000393713:G271V	ENSP00000273183:G332V	G	+	2	0	STAC	36545366	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.188000	0.94921	2.722000	0.93159	0.655000	0.94253	GGC		0.358	STAC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253338.2	NM_003149		19	28	1	0	5.35267e-07	1	5.84676e-07	19	28					T	36570362	G	T	36570362	3	4	251	1	0	0	0	0	1	0	0	0	15238	1203	42	5	1033	5	STAC	3	36570362	Missense_Mutation	SNP	G	TCGA-HC-A76W-01A-11D-A33T-08		36570362	161452068	8	11747											
PCBP4	57060	broad.mit.edu	37	chr3	51992299	51992299	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gccgtcaggggtggcgagaaGggggcaggcaggtctgcggg	6	4	23	8	3	2	1	1	0	1	1	2	2	2	1	1	8	1	2	1	8	1	0			TCGA-HC-A76W-01A-11D-A33T-08	TCGA-HC-A76W-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de77175f-808b-4fb9-9413-5e99254a9325	0f5b9970-388e-406b-ba7a-bad4b7724b53	g.chr3:51992299G>A	ENST00000461554.1	-	14	1321	c.990C>T	c.(988-990)ccC>ccT	p.P330P	PCBP4_ENST00000428823.2_Silent_p.P287P|PCBP4_ENST00000471622.1_Intron|RP11-155D18.12_ENST00000488257.1_RNA|PCBP4_ENST00000355852.2_Silent_p.P330P|PCBP4_ENST00000395013.3_Silent_p.P170P|PCBP4_ENST00000322099.7_Silent_p.P330P|PCBP4_ENST00000395014.2_Silent_p.P351P|PCBP4_ENST00000484633.1_Silent_p.P287P	NM_001174100.1	NP_001167571.1	P57723	PCBP4_HUMAN	poly(rC) binding protein 4	330						cytoplasm (GO:0005737)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(2)|large_intestine(2)|lung(2)|prostate(1)|stomach(1)	8				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000534)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		GTGGCGAGAAGGGGGCAGGCA	0.662																																						ENST00000461554.1																			0				endometrium(2)|large_intestine(2)|lung(2)|prostate(1)|stomach(1)	8						c.(988-990)ccC>ccT		poly(rC) binding protein 4							30	37	34					3																	51992299		2203	4299	6502	SO:0001819	synonymous_variant	57060					cytoplasm|ribonucleoprotein complex	DNA binding|RNA binding	g.chr3:51992299G>A	AF176330	CCDS2839.1, CCDS2840.1, CCDS2840.2	3p21	2013-07-16	2001-11-28		ENSG00000090097	ENSG00000090097			8652	protein-coding gene	gene with protein product	"RNA binding protein MCG10", "LYST-interacting protein", "alphaCP-4 protein"	608503	"poly(rC)-binding protein 4"			10936052	Standard	NM_033008		Approved	MCG10, LIP4	uc003dch.2	P57723	OTTHUMG00000157366	ENST00000461554.1:c.990C>T	3.37:g.51992299G>A						PCBP4_ENST00000322099.7_Silent_p.P330P|PCBP4_ENST00000471622.1_Intron|PCBP4_ENST00000484633.1_Silent_p.P287P|PCBP4_ENST00000355852.2_Silent_p.P330P|PCBP4_ENST00000395014.2_Silent_p.P351P|PCBP4_ENST00000395013.3_Silent_p.P170P|PCBP4_ENST00000428823.2_Silent_p.P287P	p.P330P	NM_001174100.1	NP_001167571.1	P57723	PCBP4_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000534)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	14	1321	-			330					Q96AH7	Silent	SNP	ENST00000461554.1	37	c.990C>T	CCDS2839.1																																																																																				0.662	PCBP4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348597.1	NM_020418		6	34	0	0	0	1	0	6	34					A	51992299	G	A	51992299	2	1	251	1	0	0	0	0	0	0	0	1	11503	987	35	3		3	PCBP4	3	51992299	Silent	SNP	G	TCGA-HC-A76W-01A-11D-A33T-08	15421937	51992299	146030131	9	11748											
ROBO2	6092	broad.mit.edu	37	chr3	77666801	77666801	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ggcttcttctcctgctatctCctttggacagcagtccactg	5	14	8	14	0	3	0	0	0	3	0	6	1	4	1	3	2	2	3	3	2	1	4			TCGA-HC-A76W-01A-11D-A33T-08	TCGA-HC-A76W-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de77175f-808b-4fb9-9413-5e99254a9325	0f5b9970-388e-406b-ba7a-bad4b7724b53	g.chr3:77666801C>A	ENST00000461745.1	+	22	4331	c.3431C>A	c.(3430-3432)tCc>tAc	p.S1144Y	ROBO2_ENST00000332191.8_Missense_Mutation_p.S1144Y|ROBO2_ENST00000487694.3_Missense_Mutation_p.S1160Y|ROBO2_ENST00000469233.1_3'UTR	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	1144					apoptotic process involved in luteolysis (GO:0061364)|axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|brain development (GO:0007420)|cellular response to hormone stimulus (GO:0032870)|central nervous system development (GO:0007417)|homophilic cell adhesion (GO:0007156)|metanephros development (GO:0001656)|negative regulation of negative chemotaxis (GO:0050925)|negative regulation of synapse assembly (GO:0051964)|olfactory bulb interneuron development (GO:0021891)|positive regulation of axonogenesis (GO:0050772)|retinal ganglion cell axon guidance (GO:0031290)|ureteric bud development (GO:0001657)	axolemma (GO:0030673)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	axon guidance receptor activity (GO:0008046)|identical protein binding (GO:0042802)			NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		CCTGCTATCTCCTTTGGACAG	0.512																																						ENST00000461745.1																			0				NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117						c.(3430-3432)tCc>tAc		roundabout, axon guidance receptor, homolog 2 (Drosophila)							99	97	97					3																	77666801		2040	4196	6236	SO:0001583	missense	6092				apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding	g.chr3:77666801C>A	AF040991	CCDS43109.1, CCDS54609.1	3p12.3	2013-02-11	2001-11-28		ENSG00000185008	ENSG00000185008		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	10250	protein-coding gene	gene with protein product		602431	"roundabout (axon guidance receptor, Drosophila) homolog 2"			9458045	Standard	NM_002942		Approved	KIAA1568	uc003dpy.4	Q9HCK4	OTTHUMG00000158935	ENST00000461745.1:c.3431C>A	3.37:g.77666801C>A	ENSP00000417164:p.Ser1144Tyr					ROBO2_ENST00000469233.1_3'UTR|ROBO2_ENST00000332191.8_Missense_Mutation_p.S1144Y|ROBO2_ENST00000487694.3_Missense_Mutation_p.S1160Y	p.S1144Y	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN		Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)	22	4331	+			1144					O43608|Q19AB4|Q19AB5	Missense_Mutation	SNP	ENST00000461745.1	37	c.3431C>A	CCDS43109.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.4|20.4	3.978918|3.978918	0.74360|0.74360	.|.	.|.	ENSG00000185008|ENSG00000185008	ENST00000490991|ENST00000487694;ENST00000403211;ENST00000461745;ENST00000332191	.|T;T;T	.|0.81163	.|-1.46;-1.41;-1.22	5.58|5.58	5.58|5.58	0.84498|0.84498	.|.	.|0.000000	.|0.45126	.|D	.|0.000396	D|D	0.89643|0.89643	0.6774|0.6774	M|M	0.70595|0.70595	2.14|2.14	.|0.31366	.|N	.|0.680822	.|D;D;D	.|0.65815	.|0.995;0.991;0.981	.|D;P;P	.|0.75484	.|0.986;0.822;0.592	D|D	0.90171|0.90171	0.4235|0.4235	4|9	.|0.87932	.|D	.|0	.|.	19.5819|19.5819	0.95471|0.95471	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|1160;1144;1144	.|Q19AB5;F8W703;Q9HCK4	.|.;.;ROBO2_HUMAN	T|Y	301|1160;1160;1144;1144	.|ENSP00000417335:S1160Y;ENSP00000417164:S1144Y;ENSP00000327536:S1144Y	.|ENSP00000327536:S1144Y	P|S	+|+	1|2	0|0	ROBO2|ROBO2	77749491|77749491	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.881000|0.881000	0.50899|0.50899	7.487000|7.487000	0.81328|0.81328	2.624000|2.624000	0.88883|0.88883	0.655000|0.655000	0.94253|0.94253	CCT|TCC		0.512	ROBO2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000352600.2	XM_031246		25	54	1	0	3.83957e-06	1	4.00896e-06	25	54					A	77666801	C	A	77666801	3	1	251	1	0	0	0	0	1	0	0	0	13514	855	30	5	3519	5	ROBO2	3	77666801	Missense_Mutation	SNP	C	TCGA-HC-A76W-01A-11D-A33T-08	25674502	77666801	120355629	10	11749											
IFT122	55764	broad.mit.edu	37	chr3	129185799	129185799	+	Nonsense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gatgtcattgtcaacagataTattcaggaaatcccttccac	13	12	6	10	0	3	1	3	0	0	1	5	3	5	2	2	1	1	0	2	1	4	5			TCGA-HC-A76W-01A-11D-A33T-08	TCGA-HC-A76W-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de77175f-808b-4fb9-9413-5e99254a9325	0f5b9970-388e-406b-ba7a-bad4b7724b53	g.chr3:129185799T>G	ENST00000348417.2	+	8	707	c.630T>G	c.(628-630)taT>taG	p.Y210*	IFT122_ENST00000507564.1_Intron|IFT122_ENST00000440957.2_Intron|IFT122_ENST00000347300.2_Intron|IFT122_ENST00000296266.3_Nonsense_Mutation_p.Y261*|IFT122_ENST00000431818.2_Nonsense_Mutation_p.Y60*|IFT122_ENST00000349441.2_Intron|IFT122_ENST00000504021.1_Intron	NM_052989.1	NP_443715.1	Q9HBG6	IF122_HUMAN	intraflagellar transport 122	210					camera-type eye morphogenesis (GO:0048593)|ciliary receptor clustering involved in smoothened signaling pathway (GO:0060830)|cilium morphogenesis (GO:0060271)|embryonic body morphogenesis (GO:0010172)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|embryonic heart tube development (GO:0035050)|embryonic heart tube left/right pattern formation (GO:0060971)|establishment of protein localization to organelle (GO:0072594)|intraciliary anterograde transport (GO:0035720)|intraciliary retrograde transport (GO:0035721)|limb development (GO:0060173)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of smoothened signaling pathway involved in ventral spinal cord patterning (GO:0021914)|neural tube closure (GO:0001843)|protein localization to cilium (GO:0061512)|signal transduction downstream of smoothened (GO:0007227)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)	ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|intraciliary transport particle A (GO:0030991)|membrane (GO:0016020)|photoreceptor connecting cilium (GO:0032391)|primary cilium (GO:0072372)				breast(3)|cervix(1)|endometrium(9)|large_intestine(10)|lung(21)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	52						TCAACAGATATATTCAGGAAA	0.468																																						ENST00000296266.3																			0				breast(3)|cervix(1)|endometrium(9)|large_intestine(10)|lung(21)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	52						c.(781-783)taT>taG		intraflagellar transport 122 homolog (Chlamydomonas)							180	178	179					3																	129185799		2203	4300	6503	SO:0001587	stop_gained	55764				camera-type eye morphogenesis|cilium morphogenesis|embryonic body morphogenesis|embryonic heart tube development|limb development|neural tube closure	microtubule basal body|photoreceptor connecting cilium		g.chr3:129185799T>G	AF244930	CCDS3059.1, CCDS3060.1, CCDS3061.1, CCDS3062.1, CCDS63770.1, CCDS63772.1, CCDS63773.1	3q21	2014-07-03	2014-07-03	2005-11-02	ENSG00000163913	ENSG00000163913		"WD repeat domain containing", "Intraflagellar transport homologs"	13556	protein-coding gene	gene with protein product		606045	"WD repeat domain 10", "intraflagellar transport 122 homolog (Chlamydomonas)"	WDR10		11242542	Standard	NM_052985		Approved	WDR140, WDR10p, SPG	uc003emm.3	Q9HBG6	OTTHUMG00000159516	ENST00000348417.2:c.630T>G	3.37:g.129185799T>G	ENSP00000324005:p.Tyr210*					IFT122_ENST00000440957.2_Intron|IFT122_ENST00000507564.1_Intron|IFT122_ENST00000347300.2_Intron|IFT122_ENST00000504021.1_Intron|IFT122_ENST00000431818.2_Nonsense_Mutation_p.Y60*|IFT122_ENST00000348417.2_Nonsense_Mutation_p.Y210*|IFT122_ENST00000349441.2_Intron	p.Y261*	NM_052985.2	NP_443711.2	Q9HBG6	IF122_HUMAN			9	975	+			210					B3KW53|B4DEY9|B4DPW7|E7EQF4|E9PDG2|E9PDX2|G3XAB1|H7C3C0|Q53G36|Q8TC06|Q9BTB9|Q9BTY4|Q9HAT9|Q9HBG5|Q9NV68|Q9UF80	Nonsense_Mutation	SNP	ENST00000348417.2	37	c.783T>G	CCDS3061.1	.	.	.	.	.	.	.	.	.	.	T	42	9.194501	0.99096	.	.	ENSG00000163913	ENST00000296266;ENST00000431818;ENST00000348417	.	.	.	4.74	2.35	0.29111	.	0.220895	0.28914	N	0.013740	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.13470	T	0.59	-6.2686	7.0392	0.25010	0.0:0.1859:0.0:0.8141	.	.	.	.	X	261;60;210	.	ENSP00000296266:Y261X	Y	+	3	2	IFT122	130668489	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	1.292000	0.33342	0.331000	0.23511	0.379000	0.24179	TAT		0.468	IFT122-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000355852.1	NM_018262		31	76	0	0	0	1	0	31	76					G	129185799	T	G	129185799	4	3	251	1	0	0	0	0	0	1	0	0	7555	1413	49	5	817	5	IFT122	3	129185799	Nonsense_Mutation	SNP	T	TCGA-HC-A76W-01A-11D-A33T-08	51518998	129185799	68836631	11	11750											
NAP1L5	266812	broad.mit.edu	37	chr4	89618405	89618405	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcgtgggcatcgtcatgtttGgcccccgcggcagcctctgc	3	9	14	15	4	2	0	1	0	1	0	3	0	2	0	3	3	2	3	3	3	0	1			TCGA-HC-A76W-01A-11D-A33T-08	TCGA-HC-A76W-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de77175f-808b-4fb9-9413-5e99254a9325	0f5b9970-388e-406b-ba7a-bad4b7724b53	g.chr4:89618405G>A	ENST00000323061.5	-	1	981	c.501C>T	c.(499-501)gcC>gcT	p.A167A	HERC3_ENST00000264345.3_Intron|HERC3_ENST00000402738.1_Intron|HERC3_ENST00000543130.1_Intron	NM_153757.2	NP_715638.1	Q96NT1	NP1L5_HUMAN	nucleosome assembly protein 1-like 5	167					nucleosome assembly (GO:0006334)	nucleus (GO:0005634)				endometrium(2)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	7				OV - Ovarian serous cystadenocarcinoma(123;0.000181)		CGTCATGTTTGGCCCCCGCGG	0.602																																						ENST00000323061.5																			0				endometrium(2)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	7						c.(499-501)gcC>gcT		nucleosome assembly protein 1-like 5							99	107	104					4																	89618405		2203	4300	6503	SO:0001819	synonymous_variant	266812				nucleosome assembly	nucleus	protein binding	g.chr4:89618405G>A	NM_153757	CCDS3632.1	4q21-q22	2006-04-12			ENSG00000177432	ENSG00000177432			19968	protein-coding gene	gene with protein product		612203				12383514	Standard	NM_153757		Approved	DRLM	uc003hrx.3	Q96NT1	OTTHUMG00000130950	ENST00000323061.5:c.501C>T	4.37:g.89618405G>A						HERC3_ENST00000264345.3_Intron|HERC3_ENST00000402738.1_Intron|HERC3_ENST00000543130.1_Intron	p.A167A	NM_153757.2	NP_715638.1	Q96NT1	NP1L5_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000181)	1	981	-			167						Silent	SNP	ENST00000323061.5	37	c.501C>T	CCDS3632.1																																																																																				0.602	NAP1L5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253551.1	NM_153757		45	115	0	0	0	1	0	45	115					A	89618405	G	A	89618405	2	1	251	1	0	0	0	0	0	0	0	1	10160	1335	47	3		3	NAP1L5	4	89618405	Silent	SNP	G	TCGA-HC-A76W-01A-11D-A33T-08		89618405	101535871	12	11751											
CPE	1363	broad.mit.edu	37	chr4	166405633	166405633	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ttttccaaagcttggcccggGcatactcttctttcaacccg	7	13	7	14	2	3	0	1	0	2	0	4	0	4	0	3	2	3	2	3	2	3	6			TCGA-HC-A76W-01A-11D-A33T-08	TCGA-HC-A76W-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de77175f-808b-4fb9-9413-5e99254a9325	0f5b9970-388e-406b-ba7a-bad4b7724b53	g.chr4:166405633G>A	ENST00000402744.4	+	5	1130	c.850G>A	c.(850-852)Gca>Aca	p.A284T		NM_001873.2	NP_001864.1	P16870	CBPE_HUMAN	carboxypeptidase E	284					cardiac left ventricle morphogenesis (GO:0003214)|cellular protein metabolic process (GO:0044267)|cellular protein modification process (GO:0006464)|insulin processing (GO:0030070)|metabolic process (GO:0008152)|neuropeptide signaling pathway (GO:0007218)|protein localization to membrane (GO:0072657)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|secretory granule membrane (GO:0030667)	carboxypeptidase activity (GO:0004180)|cell adhesion molecule binding (GO:0050839)|metallocarboxypeptidase activity (GO:0004181)|neurexin family protein binding (GO:0042043)|zinc ion binding (GO:0008270)	p.A284T(1)		endometrium(2)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	26	all_hematologic(180;0.221)	Prostate(90;0.0962)|Melanoma(52;0.18)		GBM - Glioblastoma multiforme(119;0.137)	"""Insulin(DB00071)|Insulin Regular(DB00030)"	CTTGGCCCGGGCATACTCTTC	0.498																																						ENST00000402744.4																			1	Substitution - Missense(1)	p.A284T(1)	prostate(1)	endometrium(2)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	26						c.(850-852)Gca>Aca		carboxypeptidase E	Glucagon recombinant(DB00040)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)						270	262	265					4																	166405633		2203	4300	6503	SO:0001583	missense	1363				cardiac left ventricle morphogenesis|neuropeptide signaling pathway|protein modification process	extracellular region|nucleus|plasma membrane	metallocarboxypeptidase activity|protein binding|zinc ion binding	g.chr4:166405633G>A	X51405	CCDS3810.1	4q32.3	2012-02-10			ENSG00000109472	ENSG00000109472	3.4.17.10		2303	protein-coding gene	gene with protein product	"carboxypeptidase H", "enkephalin convertase", "insulin granule-associated carboxypeptidase", "cobalt-stimulated chromaffin granule carboxypeptidase"	114855				2334405	Standard	NM_001873		Approved		uc003irg.4	P16870	OTTHUMG00000150252	ENST00000402744.4:c.850G>A	4.37:g.166405633G>A	ENSP00000386104:p.Ala284Thr						p.A284T	NM_001873.2	NP_001864.1	P16870	CBPE_HUMAN		GBM - Glioblastoma multiforme(119;0.137)	5	1130	+	all_hematologic(180;0.221)	Prostate(90;0.0962)|Melanoma(52;0.18)	284					A8K4N1|B3KR42|B4DFN4|D3DP33|Q9UIU9	Missense_Mutation	SNP	ENST00000402744.4	37	c.850G>A	CCDS3810.1	.	.	.	.	.	.	.	.	.	.	G	3.578	-0.086236	0.07097	.	.	ENSG00000109472	ENST00000402744;ENST00000261510	T	0.11385	2.78	5.67	4.82	0.62117	Peptidase M14, carboxypeptidase A (2);	0.397035	0.26963	N	0.021616	T	0.04137	0.0115	N	0.04387	-0.21	0.45962	D	0.998781	B	0.24092	0.097	B	0.20767	0.031	T	0.42632	-0.9440	10	0.16420	T	0.52	-6.9485	5.6935	0.17843	0.1036:0.0:0.557:0.3394	.	284	P16870	CBPE_HUMAN	T	284;248	ENSP00000386104:A284T	ENSP00000261510:A248T	A	+	1	0	CPE	166625083	0.998000	0.40836	0.783000	0.31826	0.257000	0.26127	1.637000	0.37155	1.487000	0.48415	0.650000	0.86243	GCA		0.498	CPE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317094.2	NM_001873		5	257	0	0	0	1	0	5	257					A	166405633	G	A	166405633	3	1	251	1	0	0	0	0	1	0	0	0	3799	1203	42	3	868	3	CPE	4	166405633	Missense_Mutation	SNP	G	TCGA-HC-A76W-01A-11D-A33T-08	76787228	166405633	24748643	13	11752											
BHMT2	23743	broad.mit.edu	37	chr5	78376593	78376593	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ttggtagcaggggggatctgCcagacatcaatatacaaata	14	9	11	7	0	2	1	1	0	1	1	2	2	2	2	1	4	3	2	1	4	6	5			TCGA-HC-A76W-01A-11D-A33T-08	TCGA-HC-A76W-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de77175f-808b-4fb9-9413-5e99254a9325	0f5b9970-388e-406b-ba7a-bad4b7724b53	g.chr5:78376593C>T	ENST00000255192.3	+	4	408	c.342C>T	c.(340-342)tgC>tgT	p.C114C	BHMT2_ENST00000521567.1_Intron|DMGDH_ENST00000520388.1_Intron	NM_017614.4	NP_060084.2	Q9H2M3	BHMT2_HUMAN	betaine--homocysteine S-methyltransferase 2	114	Hcy-binding. {ECO:0000255|PROSITE- ProRule:PRU00333}.				L-methionine salvage (GO:0071267)|S-adenosylmethionine metabolic process (GO:0046500)|S-methylmethionine metabolic process (GO:0033477)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	S-adenosylmethionine-homocysteine S-methyltransferase activity (GO:0008898)|S-methylmethionine-homocysteine S-methyltransferase activity (GO:0061627)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(8)|lung(2)|ovary(1)|skin(1)|urinary_tract(1)	15		all_lung(232;0.00063)|Lung NSC(167;0.00171)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;2.09e-45)|Epithelial(54;9.3e-41)|all cancers(79;4.09e-36)	L-Methionine(DB00134)	GGGGGATCTGCCAGACATCAA	0.448																																						ENST00000255192.3																			0				endometrium(2)|large_intestine(8)|lung(2)|ovary(1)|skin(1)|urinary_tract(1)	15						c.(340-342)tgC>tgT		betaine--homocysteine S-methyltransferase 2	L-Methionine(DB00134)						101	103	102					5																	78376593		2203	4300	6503	SO:0001819	synonymous_variant	23743				methionine biosynthetic process	cytoplasm	betaine-homocysteine S-methyltransferase activity|homocysteine S-methyltransferase activity|zinc ion binding	g.chr5:78376593C>T		CCDS4045.1, CCDS54871.1	5q13	2010-04-28	2010-04-28		ENSG00000132840	ENSG00000132840	2.1.1.5		1048	protein-coding gene	gene with protein product		605932				11087663, 18230605	Standard	NM_017614		Approved		uc003kft.3	Q9H2M3	OTTHUMG00000108158	ENST00000255192.3:c.342C>T	5.37:g.78376593C>T						DMGDH_ENST00000520388.1_Intron|BHMT2_ENST00000521567.1_Intron	p.C114C	NM_017614.4	NP_060084.2	Q9H2M3	BHMT2_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;2.09e-45)|Epithelial(54;9.3e-41)|all cancers(79;4.09e-36)	4	408	+		all_lung(232;0.00063)|Lung NSC(167;0.00171)|Ovarian(174;0.0261)|Prostate(461;0.191)	114			Hcy-binding.		B7Z516|Q9NXX7	Silent	SNP	ENST00000255192.3	37	c.342C>T	CCDS4045.1																																																																																				0.448	BHMT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226962.2	NM_017614		6	83	0	0	0	1	0	6	83					T	78376593	C	T	78376593	2	4	251	1	0	0	0	0	0	0	0	1	1426	747	26	3		3	BHMT2	5	78376593	Silent	SNP	C	TCGA-HC-A76W-01A-11D-A33T-08		78376593	102538667	14	11753											
ANKRD32	84250	broad.mit.edu	37	chr5	94027888	94027888	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatctgctcactcaagtggaCggggtgactcctttgcatga	8	11	12	10	1	3	2	2	2	1	0	4	4	4	3	1	3	2	2	1	3	1	1			TCGA-HC-A76W-01A-11D-A33T-08	TCGA-HC-A76W-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de77175f-808b-4fb9-9413-5e99254a9325	0f5b9970-388e-406b-ba7a-bad4b7724b53	g.chr5:94027888C>T	ENST00000265140.5	+	20	3041	c.2622C>T	c.(2620-2622)gaC>gaT	p.D874D		NM_032290.3	NP_115666.2	Q9BQI6	ANR32_HUMAN	ankyrin repeat domain 32	874						centrosome (GO:0005813)|nucleus (GO:0005634)				NS(1)|breast(2)|endometrium(2)|large_intestine(1)|lung(3)|ovary(2)|prostate(1)|skin(1)	13		all_cancers(142;1.51e-09)|all_epithelial(76;4.68e-12)|all_lung(232;5.94e-05)|Ovarian(174;0.000953)|Lung NSC(167;0.00105)|Colorectal(57;0.122)|Lung SC(612;0.152)		all cancers(79;3.88e-18)		CTCAAGTGGACGGGGTGACTC	0.483																																						ENST00000265140.5																			0				NS(1)|breast(2)|endometrium(2)|large_intestine(1)|lung(3)|ovary(2)|prostate(1)|skin(1)	13						c.(2620-2622)gaC>gaT		ankyrin repeat domain 32							142	128	133					5																	94027888		2203	4300	6503	SO:0001819	synonymous_variant	84250							g.chr5:94027888C>T	AL136560	CCDS4071.2	5q15	2013-01-10			ENSG00000133302	ENSG00000133302		"Ankyrin repeat domain containing"	25408	protein-coding gene	gene with protein product			"BRCT domain containing 1"	BRCTD1			Standard	NM_032290		Approved	DKFZp761C121, DKFZp564C0469	uc003kkr.4	Q9BQI6	OTTHUMG00000121133	ENST00000265140.5:c.2622C>T	5.37:g.94027888C>T							p.D874D	NM_032290.3	NP_115666.2	Q9BQI6	ANR32_HUMAN		all cancers(79;3.88e-18)	20	3041	+		all_cancers(142;1.51e-09)|all_epithelial(76;4.68e-12)|all_lung(232;5.94e-05)|Ovarian(174;0.000953)|Lung NSC(167;0.00105)|Colorectal(57;0.122)|Lung SC(612;0.152)	874					B4DMG4|Q3B7K4|Q6NSA5|Q6PHW9|Q9Y402	Silent	SNP	ENST00000265140.5	37	c.2622C>T	CCDS4071.2																																																																																				0.483	ANKRD32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241610.1	NM_032290		28	62	0	0	0	1	0	28	62					T	94027888	C	T	94027888	2	4	251	1	0	0	0	0	0	0	0	1	660	535	19	1		1	ANKRD32	5	94027888	Silent	SNP	C	TCGA-HC-A76W-01A-11D-A33T-08	15651295	94027888	86887372	15	11754											
MEGF10	84466	broad.mit.edu	37	chr5	126676272	126676272	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggagaagactatgtataggcGcaagtctcagtgttgtcctg	10	11	13	7	1	1	2	1	0	1	2	3	3	2	2	1	2	0	3	1	2	5	4			TCGA-HC-A76W-01A-11D-A33T-08	TCGA-HC-A76W-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de77175f-808b-4fb9-9413-5e99254a9325	0f5b9970-388e-406b-ba7a-bad4b7724b53	g.chr5:126676272G>A	ENST00000274473.6	+	5	536	c.269G>A	c.(268-270)cGc>cAc	p.R90H	MEGF10_ENST00000508365.1_Missense_Mutation_p.R90H|MEGF10_ENST00000503335.2_Missense_Mutation_p.R90H|MEGF10_ENST00000418761.2_Missense_Mutation_p.R90H	NM_032446.2	NP_115822.1	Q96KG7	MEG10_HUMAN	multiple EGF-like-domains 10	90	EMI. {ECO:0000255|PROSITE- ProRule:PRU00384}.|Necessary for interaction with AP2M1, self-assembly and formation of the irregular, mosaic-like adhesion pattern.				homotypic cell-cell adhesion (GO:0034109)|muscle cell development (GO:0055001)|recognition of apoptotic cell (GO:0043654)|regulation of muscle cell differentiation (GO:0051147)|regulation of skeletal muscle tissue development (GO:0048641)|skeletal muscle satellite cell activation (GO:0014719)|skeletal muscle satellite cell differentiation (GO:0014816)|skeletal muscle satellite cell proliferation (GO:0014841)	cell projection (GO:0042995)|integral component of membrane (GO:0016021)|phagocytic cup (GO:0001891)				breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(28)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	68		Prostate(80;0.165)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123)		ATGTATAGGCGCAAGTCTCAG	0.423																																						ENST00000274473.6																			0				breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(28)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	68						c.(268-270)cGc>cAc		multiple EGF-like-domains 10							200	187	191					5																	126676272		2203	4300	6503	SO:0001583	missense	84466				cell adhesion|phagocytosis	basolateral plasma membrane|cell projection|integral to membrane|phagocytic cup		g.chr5:126676272G>A	AK021631	CCDS4142.1	5q33	2008-02-05			ENSG00000145794	ENSG00000145794			29634	protein-coding gene	gene with protein product		612453				11347906	Standard	NM_032446		Approved	KIAA1780	uc003kui.4	Q96KG7	OTTHUMG00000128984	ENST00000274473.6:c.269G>A	5.37:g.126676272G>A	ENSP00000274473:p.Arg90His					MEGF10_ENST00000418761.2_Missense_Mutation_p.R90H|MEGF10_ENST00000508365.1_Missense_Mutation_p.R90H|MEGF10_ENST00000503335.2_Missense_Mutation_p.R90H	p.R90H	NM_032446.2	NP_115822.1	Q96KG7	MEG10_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123)	5	536	+		Prostate(80;0.165)	90			EMI.|Necessary for interaction with AP2M1, self-assembly and formation of the irregular, mosaic-like adhesion pattern.		Q68DE5|Q8WUL3	Missense_Mutation	SNP	ENST00000274473.6	37	c.269G>A	CCDS4142.1	.	.	.	.	.	.	.	.	.	.	G	33	5.256557	0.95336	.	.	ENSG00000145794	ENST00000503335;ENST00000508365;ENST00000418761;ENST00000274473	T;T;T;T	0.80909	-1.43;2.73;2.73;-1.43	5.3	5.3	0.74995	EMI domain (1);	0.000000	0.64402	D	0.000001	D	0.86518	0.5952	L	0.53249	1.67	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.80764	0.99;0.994	T	0.81988	-0.0680	10	0.15952	T	0.53	-36.1114	18.1017	0.89508	0.0:0.0:1.0:0.0	.	90;90	Q96KG7-2;Q96KG7	.;MEG10_HUMAN	H	90	ENSP00000423354:R90H;ENSP00000423195:R90H;ENSP00000416284:R90H;ENSP00000274473:R90H	ENSP00000274473:R90H	R	+	2	0	MEGF10	126704171	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.700000	0.84556	2.648000	0.89879	0.650000	0.86243	CGC		0.423	MEGF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250973.2	NM_032446		8	92	0	0	0	1	0	8	92					A	126676272	G	A	126676272	3	1	251	1	0	0	0	0	1	0	0	0	9460	1087	38	1	279	1	MEGF10	5	126676272	Missense_Mutation	SNP	G	TCGA-HC-A76W-01A-11D-A33T-08	32648384	126676272	54238988	16	11755											
PCDHAC1	56135	broad.mit.edu	37	chr5	140306725	140306725	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtcagagagccggcggaccGcgaacagctgtgcagggcca	9	3	17	12	4	1	1	1	0	0	1	1	4	1	2	3	4	4	2	3	4	1	0			TCGA-HC-A76W-01A-11D-A33T-08	TCGA-HC-A76W-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de77175f-808b-4fb9-9413-5e99254a9325	0f5b9970-388e-406b-ba7a-bad4b7724b53	g.chr5:140306725G>A	ENST00000253807.2	+	1	248	c.248G>A	c.(247-249)cGc>cAc	p.R83H	PCDHA8_ENST00000531613.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHAC1_ENST00000409700.3_Missense_Mutation_p.R83H	NM_018898.3	NP_061721.2	Q9H158	PCDC1_HUMAN	protocadherin alpha subfamily C, 1	83	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(2)|breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|liver(2)|lung(13)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	65			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCGGCGGACCGCGAACAGCTG	0.612																																						ENST00000253807.2																			0				NS(2)|breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|liver(2)|lung(13)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	65						c.(247-249)cGc>cAc									42	45	44					5																	140306725		2203	4300	6503	SO:0001583	missense	0							g.chr5:140306725G>A	AF152473	CCDS4241.1	5q31	2010-11-26			ENSG00000248383	ENSG00000248383		"Cadherins / Protocadherins : Clustered"	8676	other	complex locus constituent	"PCDH-ALPHA-C1"	606320				10380929	Standard	NM_018898		Approved			Q9H158	OTTHUMG00000129603	ENST00000253807.2:c.248G>A	5.37:g.140306725G>A	ENSP00000253807:p.Arg83His					PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHAC1_ENST00000409700.3_Missense_Mutation_p.R83H|PCDHA1_ENST00000394633.3_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA12_ENST00000398631.2_Intron	p.R83H	NM_018898.3	NP_061721.2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	248	+								Q9Y5F5|Q9Y5I5	Missense_Mutation	SNP	ENST00000253807.2	37	c.248G>A	CCDS4241.1	.	.	.	.	.	.	.	.	.	.	G	24.3	4.520112	0.85495	.	.	ENSG00000248383	ENST00000409700;ENST00000253807	T;T	0.53857	0.6;0.6	5.5	4.62	0.57501	Cadherin, N-terminal (1);Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.81987	0.4939	H	0.96805	3.885	0.29790	N	0.833297	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.83710	0.0187	9	0.87932	D	0	.	15.8024	0.78463	0.0:0.0:0.8631:0.1369	.	83;83	Q9H158;Q9H158-2	PCDC1_HUMAN;.	H	83	ENSP00000386356:R83H;ENSP00000253807:R83H	ENSP00000253807:R83H	R	+	2	0	PCDHAC1	140286909	1.000000	0.71417	0.999000	0.59377	0.422000	0.31414	7.913000	0.87471	1.278000	0.44430	0.561000	0.74099	CGC		0.612	PCDHAC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251798.1	NM_018898		16	25	0	0	0	1	0	16	25					A	140306725	G	A	140306725	3	1	251	1	0	0	0	0	1	0	0	0	11532	1087	38	1	250	1	PCDHAC1	5	140306725	Missense_Mutation	SNP	G	TCGA-HC-A76W-01A-11D-A33T-08	13630453	140306725	40608535	17	11756											
GALNT10	55568	broad.mit.edu	37	chr5	153765889	153765889	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acaggtctcccgtgatggccGgtggactgttcgccgtggat	5	10	15	11	4	1	1	0	1	1	0	3	3	1	3	3	5	0	1	3	5	0	1			TCGA-HC-A76W-01A-11D-A33T-08	TCGA-HC-A76W-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de77175f-808b-4fb9-9413-5e99254a9325	0f5b9970-388e-406b-ba7a-bad4b7724b53	g.chr5:153765889G>T	ENST00000297107.6	+	7	1092	c.955G>T	c.(955-957)Ggt>Tgt	p.G319C	GALNT10_ENST00000425427.2_Missense_Mutation_p.G319C|GALNT10_ENST00000377661.2_Missense_Mutation_p.G257C|SAP30L-AS1_ENST00000519727.1_RNA|GALNT10_ENST00000519544.1_3'UTR	NM_198321.3	NP_938080.1	Q86SR1	GLT10_HUMAN	polypeptide N-acetylgalactosaminyltransferase 10	319	Catalytic subdomain B.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)	p.G319C(1)		cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(12)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	32	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)|all_hematologic(541;0.21)	Kidney(363;8.21e-05)|KIRC - Kidney renal clear cell carcinoma(527;0.000577)			CGTGATGGCCGGTGGACTGTT	0.567																																						ENST00000297107.6																			1	Substitution - Missense(1)	p.G319C(1)	lung(1)	cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(12)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	32						c.(955-957)Ggt>Tgt		UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 10 (GalNAc-T10)							187	174	178					5																	153765889		2203	4300	6503	SO:0001583	missense	55568					Golgi membrane|integral to membrane	metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr5:153765889G>T	AK023782	CCDS4325.1	5q34	2014-03-13	2014-03-13		ENSG00000164574	ENSG00000164574	2.4.1.41	"Glycosyltransferase family 2 domain containing"	19873	protein-coding gene	gene with protein product	"polypeptide GalNAc transferase 10"	608043	"UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 10 (GalNAc-T10)"			12417297	Standard	NM_198321		Approved	GalNAc-T10	uc003lvh.3	Q86SR1	OTTHUMG00000130145	ENST00000297107.6:c.955G>T	5.37:g.153765889G>T	ENSP00000297107:p.Gly319Cys					GALNT10_ENST00000519544.1_3'UTR|GALNT10_ENST00000425427.2_Missense_Mutation_p.G319C|SAP30L-AS1_ENST00000519727.1_RNA|GALNT10_ENST00000377661.2_Missense_Mutation_p.G257C	p.G319C	NM_198321.3	NP_938080.1	Q86SR1	GLT10_HUMAN	Kidney(363;8.21e-05)|KIRC - Kidney renal clear cell carcinoma(527;0.000577)		7	1092	+	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)|all_hematologic(541;0.21)	319			Catalytic subdomain B.		B3KXC9|Q6IN56|Q86VP8|Q8IXJ2|Q8TEJ2|Q96IV2|Q9H8E1|Q9Y4M4	Missense_Mutation	SNP	ENST00000297107.6	37	c.955G>T	CCDS4325.1	.	.	.	.	.	.	.	.	.	.	G	29.8	5.041156	0.93685	.	.	ENSG00000164574	ENST00000425427;ENST00000297107;ENST00000377661	T;T;T	0.67865	-0.29;-0.29;-0.29	5.45	5.45	0.79879	Glycosyl transferase, family 2 (1);	0.000000	0.85682	D	0.000000	D	0.90885	0.7136	H	0.99619	4.66	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.94968	0.8114	10	0.87932	D	0	.	19.2807	0.94051	0.0:0.0:1.0:0.0	.	257;319;319	Q86SR1-2;Q86SR1;Q86SR1-3	.;GLT10_HUMAN;.	C	319;319;257	ENSP00000415210:G319C;ENSP00000297107:G319C;ENSP00000366889:G257C	ENSP00000297107:G319C	G	+	1	0	GALNT10	153746082	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.640000	0.98453	2.563000	0.86464	0.655000	0.94253	GGT		0.567	GALNT10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252453.1	NM_198321		4	163	1	0	2.56e-06	1	2.71284e-06	4	163					T	153765889	G	T	153765889	3	4	251	1	0	0	0	0	1	0	0	0	6208	1116	39	5	981	5	GALNT10	5	153765889	Missense_Mutation	SNP	G	TCGA-HC-A76W-01A-11D-A33T-08	13459164	153765889	27149371	18	11757											
B3GALT4	8705	broad.mit.edu	37	chr6	33245991	33245991	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccaccctatgcctcaggcacGgggtatgtgctgtcagcgtc	6	9	12	14	2	2	0	2	0	0	0	3	0	2	0	3	3	3	3	3	3	2	2			TCGA-HC-A76W-01A-11D-A33T-08	TCGA-HC-A76W-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de77175f-808b-4fb9-9413-5e99254a9325	0f5b9970-388e-406b-ba7a-bad4b7724b53	g.chr6:33245991G>A	ENST00000451237.1	+	1	1075	c.795G>A	c.(793-795)acG>acA	p.T265T		NM_003782.3	NP_003773.1	O96024	B3GT4_HUMAN	UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 4	265					protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	ganglioside galactosyltransferase activity (GO:0047915)|UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity (GO:0008499)			breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|pancreas(1)|prostate(1)|soft_tissue(1)|urinary_tract(2)	13						CCTCAGGCACGGGGTATGTGC	0.642																																						ENST00000451237.1																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|pancreas(1)|prostate(1)|soft_tissue(1)|urinary_tract(2)	13						c.(793-795)acG>acA		UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 4							43	45	45					6																	33245991		2203	4300	6503	SO:0001819	synonymous_variant	8705				protein glycosylation	Golgi membrane|integral to membrane	ganglioside galactosyltransferase activity|UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity	g.chr6:33245991G>A	Y15061	CCDS34425.1	6p21.3	2013-02-19			ENSG00000235863	ENSG00000235863		"Beta 3-glycosyltransferases"	919	protein-coding gene	gene with protein product		603095				9582303	Standard	NM_003782		Approved	beta3Gal-T4, GalT4	uc003odr.3	O96024	OTTHUMG00000031100	ENST00000451237.1:c.795G>A	6.37:g.33245991G>A							p.T265T	NM_003782.3	NP_003773.1	O96024	B3GT4_HUMAN			1	1075	+			265						Silent	SNP	ENST00000451237.1	37	c.795G>A	CCDS34425.1																																																																																				0.642	B3GALT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076162.2			18	40	0	0	0	1	0	18	40					A	33245991	G	A	33245991	2	1	251	1	0	0	0	0	0	0	0	1	1249	1103	39	2		2	B3GALT4	6	33245991	Silent	SNP	G	TCGA-HC-A76W-01A-11D-A33T-08		33245991	137869076	19	11758											
GTF2IRD2	84163	broad.mit.edu	37	chr7	74212378	74212378	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aagagatacttcctgagcccTtttttcagctcgtgaagctt	9	14	8	10	1	1	3	1	2	0	1	3	4	2	3	2	0	4	2	2	0	3	6			TCGA-HC-A76W-01A-11D-A33T-08	TCGA-HC-A76W-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de77175f-808b-4fb9-9413-5e99254a9325	0f5b9970-388e-406b-ba7a-bad4b7724b53	g.chr7:74212378T>C	ENST00000405086.2	-	16	1662	c.1473A>G	c.(1471-1473)aaA>aaG	p.K491K	GTF2IRD2_ENST00000451013.2_Silent_p.K38K	NM_173537.2	NP_775808	Q86UP8	GTD2A_HUMAN	GTF2I repeat domain containing 2	491					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|endometrium(3)|large_intestine(2)|lung(2)|ovary(2)|skin(1)	11						tcctgagcccttttttcagct	0.468																																					NSCLC(40;560 1096 7501 40315 49546)	ENST00000405086.2																			0				breast(1)|endometrium(3)|large_intestine(2)|lung(2)|ovary(2)|skin(1)	11						c.(1471-1473)aaA>aaG		GTF2I repeat domain containing 2							141	117	125					7																	74212378		2203	4299	6502	SO:0001819	synonymous_variant	84163				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:74212378T>C	BC047706	CCDS5576.1, CCDS64682.1	7q11.23	2014-05-06			ENSG00000196275	ENSG00000196275			30775	protein-coding gene	gene with protein product	"transcription factor GTF2IRD2"	608899				15243160	Standard	NM_173537		Approved	FLJ37938, GTF2IRD2A	uc003ubd.1	Q86UP8	OTTHUMG00000181527	ENST00000405086.2:c.1473A>G	7.37:g.74212378T>C						GTF2IRD2_ENST00000451013.2_Silent_p.K38K	p.K491K	NM_173537.2	NP_775808.2	Q86UP8	GTD2A_HUMAN			16	1662	-			491					A8K5W6|B3KUZ2|Q69G40|Q6EKI8|Q6EKI9|Q6NVW2|Q6P7N8|Q86WX4|Q8ND85|Q8NDE5	Silent	SNP	ENST00000405086.2	37	c.1473A>G	CCDS5576.1																																																																																				0.468	GTF2IRD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252712.3	NM_173537		4	157	0	0	0	1	0	4	157					C	74212378	T	C	74212378	2	2	251	1	0	0	0	0	0	0	0	1	6869	1606	56	4		4	GTF2IRD2	7	74212378	Silent	SNP	T	TCGA-HC-A76W-01A-11D-A33T-08		74212378	84926285	20	11759											
WRN	7486	broad.mit.edu	37	chr8	31015025	31015025	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agattattgctgatgttatcCgaaaccctcccgtcaactca	11	12	6	12	2	2	2	2	1	0	1	4	3	4	2	3	0	3	2	3	0	4	3			TCGA-HC-A76W-01A-11D-A33T-08	TCGA-HC-A76W-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de77175f-808b-4fb9-9413-5e99254a9325	0f5b9970-388e-406b-ba7a-bad4b7724b53	g.chr8:31015025C>A	ENST00000298139.5	+	33	4210	c.3961C>A	c.(3961-3963)Cga>Aga	p.R1321R		NM_000553.4	NP_000544.2	Q14191	WRN_HUMAN	Werner syndrome, RecQ helicase-like	1321					aging (GO:0007568)|ATP catabolic process (GO:0006200)|base-excision repair (GO:0006284)|cell aging (GO:0007569)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|cellular response to starvation (GO:0009267)|DNA duplex unwinding (GO:0032508)|DNA metabolic process (GO:0006259)|DNA recombination (GO:0006310)|DNA replication (GO:0006260)|DNA synthesis involved in DNA repair (GO:0000731)|double-strand break repair (GO:0006302)|multicellular organismal aging (GO:0010259)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleolus to nucleoplasm transport (GO:0032066)|positive regulation of hydrolase activity (GO:0051345)|regulation of apoptotic process (GO:0042981)|regulation of growth rate (GO:0040009)|replication fork processing (GO:0031297)|replicative cell aging (GO:0001302)|response to oxidative stress (GO:0006979)|response to UV-C (GO:0010225)|telomere maintenance (GO:0000723)	centrosome (GO:0005813)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	3'-5' DNA helicase activity (GO:0043138)|3'-5' exonuclease activity (GO:0008408)|ATP binding (GO:0005524)|ATP-dependent 3'-5' DNA helicase activity (GO:0043140)|ATP-dependent DNA helicase activity (GO:0004003)|ATPase activity (GO:0016887)|bubble DNA binding (GO:0000405)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|exonuclease activity (GO:0004527)|four-way junction helicase activity (GO:0009378)|G-quadruplex DNA binding (GO:0051880)|helicase activity (GO:0004386)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|protein complex binding (GO:0032403)|protein homodimerization activity (GO:0042803)|Y-form DNA binding (GO:0000403)			central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(13)|lung(28)|ovary(3)|skin(3)|upper_aerodigestive_tract(3)	60		Breast(100;0.195)		KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192)		TGATGTTATCCGAAACCCTCC	0.483			"Mis, N, F, S"			"osteosarcoma, meningioma, others"		Genes defective in diseases associated with sensitivity to DNA damaging agents	Werner syndrome																												Ovarian(18;161 598 2706 14834 27543)	ENST00000298139.5			yes	Rec		Werner Syndrome	8	8p12-p11.2	7486	"Mis, N, F, S"	Werner syndrome (RECQL2)			"L, E, M, O"		"osteosarcoma, meningioma, others"			0				central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(13)|lung(28)|ovary(3)|skin(3)|upper_aerodigestive_tract(3)	60						c.(3961-3963)Cga>Aga	Genes defective in diseases associated with sensitivity to DNA damaging agents	Werner syndrome, RecQ helicase-like							64	56	58					8																	31015025		2203	4300	6503	SO:0001819	synonymous_variant	7486	Werner syndrome	Familial Cancer Database	WS, Adult Progeria	base-excision repair|cellular response to starvation|DNA recombination|DNA synthesis involved in DNA repair|multicellular organismal aging|nucleolus to nucleoplasm transport|positive regulation of hydrolase activity|regulation of apoptosis|replication fork processing|response to oxidative stress|response to UV-C|telomere maintenance	centrosome|nucleolus|nucleoplasm	3'-5' exonuclease activity|ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|four-way junction helicase activity|G-quadruplex DNA binding|magnesium ion binding|manganese ion binding|protein complex binding|protein homodimerization activity|Y-form DNA binding	g.chr8:31015025C>A		CCDS6082.1	8p12	2014-09-17	2009-03-19		ENSG00000165392	ENSG00000165392			12791	protein-coding gene	gene with protein product		604611	"Werner syndrome"			9288107	Standard	NM_000553		Approved	RECQL2, RECQ3	uc003xio.4	Q14191	OTTHUMG00000163894	ENST00000298139.5:c.3961C>A	8.37:g.31015025C>A							p.R1321R	NM_000553.4	NP_000544.2	Q14191	WRN_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192)	33	4210	+		Breast(100;0.195)	1321					A1KYY9	Silent	SNP	ENST00000298139.5	37	c.3961C>A	CCDS6082.1																																																																																				0.483	WRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376248.1			3	32	1	0	0.004672	1	0.00473874	3	32					A	31015025	C	A	31015025	2	1	251	1	0	0	0	0	0	0	0	1	17399	644	23	5		5	WRN	8	31015025	Silent	SNP	C	TCGA-HC-A76W-01A-11D-A33T-08		31015025	115348997	21	11760											
KCNU1	157855	broad.mit.edu	37	chr8	36698073	36698073	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tctgatgactttgctggaatGagctttcctgaagttgcccg	7	14	11	9	1	1	4	0	4	1	0	2	5	2	5	2	1	3	3	2	1	2	3			TCGA-HC-A76W-01A-11D-A33T-08	TCGA-HC-A76W-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de77175f-808b-4fb9-9413-5e99254a9325	0f5b9970-388e-406b-ba7a-bad4b7724b53	g.chr8:36698073G>A	ENST00000399881.3	+	15	1648	c.1611G>A	c.(1609-1611)atG>atA	p.M537I		NM_001031836.2	NP_001027006.2	A8MYU2	KCNU1_HUMAN	potassium channel, subfamily U, member 1	537	Segment S8.				multicellular organism reproduction (GO:0032504)|potassium ion transmembrane transport (GO:0071805)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	large conductance calcium-activated potassium channel activity (GO:0060072)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1)	57				KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)		TTGCTGGAATGAGCTTTCCTG	0.428																																						ENST00000399881.3																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1)	57						c.(1609-1611)atG>atA		potassium channel, subfamily U, member 1							90	83	85					8																	36698073		1902	4108	6010	SO:0001583	missense	157855					voltage-gated potassium channel complex	binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity	g.chr8:36698073G>A	BC028701	CCDS55220.1	8p11.2	2012-07-05				ENSG00000215262		"Potassium channels", "Voltage-gated ion channels / Potassium channels, calcium-activated"	18867	protein-coding gene	gene with protein product		615215				16382103	Standard	NM_001031836		Approved	KCa5.1, Slo3, KCNMC1, Kcnma3	uc010lvw.3	A8MYU2		ENST00000399881.3:c.1611G>A	8.37:g.36698073G>A	ENSP00000382770:p.Met537Ile						p.M537I	NM_001031836.2	NP_001027006.2	A8MYU2	KCNU1_HUMAN		KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)	15	1648	+			537			Segment S8.			Missense_Mutation	SNP	ENST00000399881.3	37	c.1611G>A	CCDS55220.1	.	.	.	.	.	.	.	.	.	.	G	18.54	3.645737	0.67358	.	.	ENSG00000215262	ENST00000399881	T	0.40756	1.02	5.7	5.7	0.88788	Potassium channel, calcium-activated, BK, alpha subunit (2);	0.000000	0.46145	U	0.000318	T	0.64616	0.2614	M	0.75777	2.31	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	T	0.64162	-0.6472	10	0.46703	T	0.11	-7.696	15.3219	0.74129	0.0:0.0:1.0:0.0	.	537	A8MYU2	KCNU1_HUMAN	I	537	ENSP00000382770:M537I	ENSP00000382770:M537I	M	+	3	0	KCNU1	36817231	1.000000	0.71417	0.995000	0.50966	0.966000	0.64601	4.993000	0.63895	2.678000	0.91216	0.655000	0.94253	ATG		0.428	KCNU1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376631.1	NM_001031836		7	18	0	0	0	1	0	7	18					A	36698073	G	A	36698073	3	1	251	1	0	0	0	0	1	0	0	0	8093	1290	45	3	1669	3	KCNU1	8	36698073	Missense_Mutation	SNP	G	TCGA-HC-A76W-01A-11D-A33T-08	5683048	36698073	109665949	22	11761											
ADAM2	2515	broad.mit.edu	37	chr8	39624425	39624425	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atacaaactccatctatacaGatccattgattcagtccaca	15	11	3	12	0	2	2	1	1	1	1	5	2	5	2	3	0	3	0	3	0	4	5			TCGA-HC-A76W-01A-11D-A33T-08	TCGA-HC-A76W-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de77175f-808b-4fb9-9413-5e99254a9325	0f5b9970-388e-406b-ba7a-bad4b7724b53	g.chr8:39624425G>A	ENST00000265708.4	-	14	1552	c.1449C>T	c.(1447-1449)atC>atT	p.I483I	ADAM2_ENST00000379853.2_Silent_p.I357I|ADAM2_ENST00000347580.4_Silent_p.I464I|ADAM2_ENST00000521880.1_Silent_p.I483I	NM_001464.3	NP_001455.3	Q99965	ADAM2_HUMAN	ADAM metallopeptidase domain 2	483	Cys-rich.				adult behavior (GO:0030534)|binding of sperm to zona pellucida (GO:0007339)|cell adhesion (GO:0007155)|fusion of sperm to egg plasma membrane (GO:0007342)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)|visual learning (GO:0008542)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(29)|ovary(3)|prostate(1)|skin(5)|urinary_tract(1)	53		all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246)	LUSC - Lung squamous cell carcinoma(45;0.000149)	READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162)		CATCTATACAGATCCATTGAT	0.388																																						ENST00000265708.4																			0				haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(29)|ovary(3)|prostate(1)|skin(5)|urinary_tract(1)	53						c.(1447-1449)atC>atT		ADAM metallopeptidase domain 2							155	147	150					8																	39624425		2203	4300	6503	SO:0001819	synonymous_variant	2515				cell adhesion|fusion of sperm to egg plasma membrane|proteolysis	integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding	g.chr8:39624425G>A	U52370	CCDS34884.1, CCDS64882.1, CCDS64883.1	8p11.2	2009-03-25	2008-07-31		ENSG00000104755	ENSG00000104755		"ADAM metallopeptidase domain containing"	198	protein-coding gene	gene with protein product	"cancer/testis antigen 15"	601533	"fertilin beta"	FTNB		8702389, 9070941	Standard	NM_001278113		Approved	PH-30b, PH30, CT15	uc003xnj.4	Q99965	OTTHUMG00000164041	ENST00000265708.4:c.1449C>T	8.37:g.39624425G>A						ADAM2_ENST00000379853.2_Silent_p.I357I|ADAM2_ENST00000521880.1_Silent_p.I483I|ADAM2_ENST00000347580.4_Silent_p.I464I	p.I483I	NM_001464.3	NP_001455.3	Q99965	ADAM2_HUMAN	LUSC - Lung squamous cell carcinoma(45;0.000149)	READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162)	14	1552	-		all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246)	483			Cys-rich.		P78326|Q9UQQ8	Silent	SNP	ENST00000265708.4	37	c.1449C>T	CCDS34884.1																																																																																				0.388	ADAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376926.1	NM_001464		5	120	0	0	0	1	0	5	120					A	39624425	G	A	39624425	2	1	251	1	0	0	0	0	0	0	0	1	241	932	33	3		3	ADAM2	8	39624425	Silent	SNP	G	TCGA-HC-A76W-01A-11D-A33T-08	2926352	39624425	106739597	23	11762			1	29		3	3	131	G		2.842321e-08
ADAM2	2515	broad.mit.edu	37	chr8	39624531	39624531	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggaggtcgcattcttcaaagGaaggcctacacattctttct	10	12	9	10	1	4	0	1	0	3	0	5	2	4	2	1	4	1	1	1	4	3	5			TCGA-HC-A76W-01A-11D-A33T-08	TCGA-HC-A76W-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de77175f-808b-4fb9-9413-5e99254a9325	0f5b9970-388e-406b-ba7a-bad4b7724b53	g.chr8:39624531G>T	ENST00000265708.4	-	14	1446	c.1343C>A	c.(1342-1344)tCc>tAc	p.S448Y	ADAM2_ENST00000379853.2_Missense_Mutation_p.S322Y|ADAM2_ENST00000347580.4_Missense_Mutation_p.S429Y|ADAM2_ENST00000521880.1_Missense_Mutation_p.S448Y	NM_001464.3	NP_001455.3	Q99965	ADAM2_HUMAN	ADAM metallopeptidase domain 2	448	Disintegrin. {ECO:0000255|PROSITE- ProRule:PRU00068}.				adult behavior (GO:0030534)|binding of sperm to zona pellucida (GO:0007339)|cell adhesion (GO:0007155)|fusion of sperm to egg plasma membrane (GO:0007342)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)|visual learning (GO:0008542)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(29)|ovary(3)|prostate(1)|skin(5)|urinary_tract(1)	53		all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246)	LUSC - Lung squamous cell carcinoma(45;0.000149)	READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162)		TTCTTCAAAGGAAGGCCTACA	0.383																																						ENST00000265708.4																			0				haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(29)|ovary(3)|prostate(1)|skin(5)|urinary_tract(1)	53						c.(1342-1344)tCc>tAc		ADAM metallopeptidase domain 2							146	132	137					8																	39624531		2203	4300	6503	SO:0001583	missense	2515				cell adhesion|fusion of sperm to egg plasma membrane|proteolysis	integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding	g.chr8:39624531G>T	U52370	CCDS34884.1, CCDS64882.1, CCDS64883.1	8p11.2	2009-03-25	2008-07-31		ENSG00000104755	ENSG00000104755		"ADAM metallopeptidase domain containing"	198	protein-coding gene	gene with protein product	"cancer/testis antigen 15"	601533	"fertilin beta"	FTNB		8702389, 9070941	Standard	NM_001278113		Approved	PH-30b, PH30, CT15	uc003xnj.4	Q99965	OTTHUMG00000164041	ENST00000265708.4:c.1343C>A	8.37:g.39624531G>T	ENSP00000265708:p.Ser448Tyr					ADAM2_ENST00000379853.2_Missense_Mutation_p.S322Y|ADAM2_ENST00000521880.1_Missense_Mutation_p.S448Y|ADAM2_ENST00000347580.4_Missense_Mutation_p.S429Y	p.S448Y	NM_001464.3	NP_001455.3	Q99965	ADAM2_HUMAN	LUSC - Lung squamous cell carcinoma(45;0.000149)	READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162)	14	1446	-		all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246)	448			Disintegrin.		P78326|Q9UQQ8	Missense_Mutation	SNP	ENST00000265708.4	37	c.1343C>A	CCDS34884.1	.	.	.	.	.	.	.	.	.	.	G	10.72	1.429535	0.25726	.	.	ENSG00000104755	ENST00000347580;ENST00000379853;ENST00000265708;ENST00000521880	T;T;T;T	0.12569	2.67;2.67;2.67;2.67	4.83	1.72	0.24424	Blood coagulation inhibitor, Disintegrin (5);	.	.	.	.	T	0.35364	0.0929	M	0.84683	2.71	0.09310	N	1	D;P;D;D	0.64830	0.987;0.82;0.992;0.994	D;P;D;D	0.69479	0.951;0.601;0.94;0.964	T	0.07046	-1.0793	8	.	.	.	.	6.7639	0.23556	0.0:0.174:0.4684:0.3576	.	448;322;429;448	B4DWY7;Q6P2G0;Q99965-2;Q99965	.;.;.;ADAM2_HUMAN	Y	429;322;448;448	ENSP00000343854:S429Y;ENSP00000369182:S322Y;ENSP00000265708:S448Y;ENSP00000429352:S448Y	.	S	-	2	0	ADAM2	39743688	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.295000	0.19065	0.509000	0.28195	0.655000	0.94253	TCC		0.383	ADAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376926.1	NM_001464		5	123	1	0	2.0095e-06	1	2.16173e-06	5	123					T	39624531	G	T	39624531	3	4	251	1	0	0	0	0	1	0	0	0	241	1174	41	5	892	5	ADAM2	8	39624531	Missense_Mutation	SNP	G	TCGA-HC-A76W-01A-11D-A33T-08	106	39624531	106739491	24	11763			1	29		3	3	131	G		2.842321e-08
ADAM2	2515	broad.mit.edu	37	chr8	39624555	39624555	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gcctacacattctttcttttGacataaactgatgggatgag	11	14	8	8	0	2	3	0	3	2	0	2	4	2	4	1	1	2	0	1	1	3	6			TCGA-HC-A76W-01A-11D-A33T-08	TCGA-HC-A76W-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de77175f-808b-4fb9-9413-5e99254a9325	0f5b9970-388e-406b-ba7a-bad4b7724b53	g.chr8:39624555G>C	ENST00000265708.4	-	14	1422	c.1319C>G	c.(1318-1320)tCa>tGa	p.S440*	ADAM2_ENST00000379853.2_Nonsense_Mutation_p.S314*|ADAM2_ENST00000347580.4_Nonsense_Mutation_p.S421*|ADAM2_ENST00000521880.1_Nonsense_Mutation_p.S440*	NM_001464.3	NP_001455.3	Q99965	ADAM2_HUMAN	ADAM metallopeptidase domain 2	440	Disintegrin. {ECO:0000255|PROSITE- ProRule:PRU00068}.				adult behavior (GO:0030534)|binding of sperm to zona pellucida (GO:0007339)|cell adhesion (GO:0007155)|fusion of sperm to egg plasma membrane (GO:0007342)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)|visual learning (GO:0008542)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(29)|ovary(3)|prostate(1)|skin(5)|urinary_tract(1)	53		all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246)	LUSC - Lung squamous cell carcinoma(45;0.000149)	READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162)		TCTTTCTTTTGACATAAACTG	0.343																																						ENST00000265708.4																			0				haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(29)|ovary(3)|prostate(1)|skin(5)|urinary_tract(1)	53						c.(1318-1320)tCa>tGa		ADAM metallopeptidase domain 2							120	111	114					8																	39624555		2203	4300	6503	SO:0001587	stop_gained	2515				cell adhesion|fusion of sperm to egg plasma membrane|proteolysis	integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding	g.chr8:39624555G>C	U52370	CCDS34884.1, CCDS64882.1, CCDS64883.1	8p11.2	2009-03-25	2008-07-31		ENSG00000104755	ENSG00000104755		"ADAM metallopeptidase domain containing"	198	protein-coding gene	gene with protein product	"cancer/testis antigen 15"	601533	"fertilin beta"	FTNB		8702389, 9070941	Standard	NM_001278113		Approved	PH-30b, PH30, CT15	uc003xnj.4	Q99965	OTTHUMG00000164041	ENST00000265708.4:c.1319C>G	8.37:g.39624555G>C	ENSP00000265708:p.Ser440*					ADAM2_ENST00000379853.2_Nonsense_Mutation_p.S314*|ADAM2_ENST00000521880.1_Nonsense_Mutation_p.S440*|ADAM2_ENST00000347580.4_Nonsense_Mutation_p.S421*	p.S440*	NM_001464.3	NP_001455.3	Q99965	ADAM2_HUMAN	LUSC - Lung squamous cell carcinoma(45;0.000149)	READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162)	14	1422	-		all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246)	440			Disintegrin.		P78326|Q9UQQ8	Nonsense_Mutation	SNP	ENST00000265708.4	37	c.1319C>G	CCDS34884.1	.	.	.	.	.	.	.	.	.	.	G	14.65	2.600157	0.46423	.	.	ENSG00000104755	ENST00000347580;ENST00000379853;ENST00000265708;ENST00000521880	.	.	.	4.83	-5.28	0.02755	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3405	0.00332	0.2923:0.1329:0.2128:0.362	.	.	.	.	X	421;314;440;440	.	.	S	-	2	0	ADAM2	39743712	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.153000	0.10144	-0.937000	0.03719	-0.211000	0.12701	TCA		0.343	ADAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376926.1	NM_001464		4	113	0	0	0	1	0	4	113					C	39624555	G	C	39624555	4	2	251	1	0	0	0	0	0	1	0	0	241	1294	45	5	916	5	ADAM2	8	39624555	Nonsense_Mutation	SNP	G	TCGA-HC-A76W-01A-11D-A33T-08	24	39624555	106739467	25	11764			1	29		3	3	131	G		2.842321e-08
LY96	23643	broad.mit.edu	37	chr8	74922262	74922262	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atttaaagcaattatatttcAatctctatataactgtcaac	16	16	2	7	0	3	0	2	0	1	0	4	0	3	0	0	0	3	1	0	0	10	8			TCGA-HC-A76W-01A-11D-A33T-08	TCGA-HC-A76W-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de77175f-808b-4fb9-9413-5e99254a9325	0f5b9970-388e-406b-ba7a-bad4b7724b53	g.chr8:74922262A>T	ENST00000284818.2	+	3	320	c.229A>T	c.(229-231)Aat>Tat	p.N77Y	LY96_ENST00000518893.1_Missense_Mutation_p.N47Y	NM_015364.4	NP_056179	Q9Y6Y9	LY96_HUMAN	lymphocyte antigen 96	77					cell surface receptor signaling pathway (GO:0007166)|cellular defense response (GO:0006968)|detection of lipopolysaccharide (GO:0032497)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|positive regulation of lipopolysaccharide-mediated signaling pathway (GO:0031666)|response to lipopolysaccharide (GO:0032496)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	endosome membrane (GO:0010008)|extracellular region (GO:0005576)|lipopolysaccharide receptor complex (GO:0046696)|plasma membrane (GO:0005886)	coreceptor activity (GO:0015026)|lipopolysaccharide receptor activity (GO:0001875)			endometrium(1)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	5	Breast(64;0.0311)		Epithelial(68;0.0208)|BRCA - Breast invasive adenocarcinoma(89;0.0499)|all cancers(69;0.0619)			ATTATATTTCAATCTCTATAT	0.328																																					GBM(131;1357 1748 34893 50149 52212)	ENST00000284818.2																			0				endometrium(1)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	5						c.(229-231)Aat>Tat		lymphocyte antigen 96							73	74	74					8																	74922262		2203	4300	6503	SO:0001583	missense	23643				cellular defense response|detection of lipopolysaccharide|I-kappaB kinase/NF-kappaB cascade|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	extracellular space|lipopolysaccharide receptor complex|plasma membrane	coreceptor activity|lipopolysaccharide receptor activity|protein binding	g.chr8:74922262A>T	AB018549	CCDS6216.1, CCDS56540.1	8q13.3	2004-01-22			ENSG00000154589	ENSG00000154589			17156	protein-coding gene	gene with protein product		605243				10359581, 11466383	Standard	NM_015364		Approved	MD-2	uc003yad.3	Q9Y6Y9	OTTHUMG00000164504	ENST00000284818.2:c.229A>T	8.37:g.74922262A>T	ENSP00000284818:p.Asn77Tyr					LY96_ENST00000518893.1_Missense_Mutation_p.N47Y	p.N77Y	NM_015364.4	NP_056179.3	Q9Y6Y9	LY96_HUMAN	Epithelial(68;0.0208)|BRCA - Breast invasive adenocarcinoma(89;0.0499)|all cancers(69;0.0619)		3	320	+	Breast(64;0.0311)		77					B3Y6A5|E5RJJ7	Missense_Mutation	SNP	ENST00000284818.2	37	c.229A>T	CCDS6216.1	.	.	.	.	.	.	.	.	.	.	A	16.43	3.121872	0.56613	.	.	ENSG00000154589	ENST00000284818;ENST00000518893	T;T	0.75260	-0.92;-0.92	4.77	4.77	0.60923	MD-2-related lipid-recognition (2);Immunoglobulin E-set (1);	0.197078	0.35805	N	0.002961	D	0.84602	0.5508	M	0.76838	2.35	0.36223	D	0.852122	D	0.89917	1.0	D	0.97110	1.0	D	0.88713	0.3224	10	0.66056	D	0.02	.	10.8274	0.46640	1.0:0.0:0.0:0.0	.	77	Q9Y6Y9	LY96_HUMAN	Y	77;47	ENSP00000284818:N77Y;ENSP00000430533:N47Y	ENSP00000284818:N77Y	N	+	1	0	LY96	75084816	0.970000	0.33590	0.998000	0.56505	0.696000	0.40369	3.933000	0.56545	2.120000	0.65058	0.482000	0.46254	AAT		0.328	LY96-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379032.2	NM_015364		17	46	0	0	0	1	0	17	46					T	74922262	A	T	74922262	3	4	251	1	0	0	0	0	1	0	0	0	9102	130	5	5	239	5	LY96	8	74922262	Missense_Mutation	SNP	A	TCGA-HC-A76W-01A-11D-A33T-08	35297707	74922262	71441760	26	11765											
TAL2	6887	broad.mit.edu	37	chr9	108425068	108425068	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	actctgcttgagaactaccaGgttccttcacctggtccaag	9	11	8	13	0	2	1	1	1	1	1	4	2	4	1	4	2	3	2	4	2	3	4			TCGA-HC-A76W-01A-11D-A33T-08	TCGA-HC-A76W-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de77175f-808b-4fb9-9413-5e99254a9325	0f5b9970-388e-406b-ba7a-bad4b7724b53	g.chr9:108425068G>A	ENST00000334077.3	+	1	331	c.291G>A	c.(289-291)caG>caA	p.Q97Q		NM_005421.2	NP_005412.1	Q16559	TAL2_HUMAN	T-cell acute lymphocytic leukemia 2	97					midbrain development (GO:0030901)|multicellular organism growth (GO:0035264)|post-embryonic development (GO:0009791)|regulation of transcription, DNA-templated (GO:0006355)|thalamus development (GO:0021794)|transcription, DNA-templated (GO:0006351)		DNA binding (GO:0003677)										AGAACTACCAGGTTCCTTCAC	0.572			T	TRB@	T-ALL																																	ENST00000334077.3				Dom	yes		9	9q31	6887	T	T-cell acute lymphocytic leukemia 2			L	TRB@		T-ALL		0											c.(289-291)caG>caA		T-cell acute lymphocytic leukemia 2							41	37	38					9																	108425068		2203	4300	6503	SO:0001819	synonymous_variant	6887				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr9:108425068G>A		CCDS6767.1	9q32	2013-05-21			ENSG00000186051	ENSG00000186051		"Basic helix-loop-helix proteins"	11557	protein-coding gene	gene with protein product		186855				1763056	Standard	NM_005421		Approved	bHLHa19	uc004bct.3	Q16559	OTTHUMG00000020424	ENST00000334077.3:c.291G>A	9.37:g.108425068G>A							p.Q97Q	NM_005421.2	NP_005412.1	Q16559	TAL2_HUMAN			1	331	+			97					A0AVI7	Silent	SNP	ENST00000334077.3	37	c.291G>A	CCDS6767.1																																																																																				0.572	TAL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053504.1	NM_005421		12	29	0	0	0	1	0	12	29					A	108425068	G	A	108425068	2	1	251	1	0	0	0	0	0	0	0	1	15539	991	35	3		3	TAL2	9	108425068	Silent	SNP	G	TCGA-HC-A76W-01A-11D-A33T-08		108425068	32788363	27	11766											
DKK1	22943	broad.mit.edu	37	chr10	54076171	54076171	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attccagaagaaccaccttgTcttcaaaaatgtatcacacc	15	10	4	12	0	3	2	2	0	1	2	4	2	4	2	4	0	1	1	4	0	5	4			TCGA-HC-A76W-01A-11D-A33T-08	TCGA-HC-A76W-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de77175f-808b-4fb9-9413-5e99254a9325	0f5b9970-388e-406b-ba7a-bad4b7724b53	g.chr10:54076171T>C	ENST00000373970.3	+	3	662	c.523T>C	c.(523-525)Tct>Cct	p.S175P	DKK1_ENST00000467359.1_3'UTR|PRKG1-AS1_ENST00000420193.1_RNA	NM_012242.2	NP_036374.1	O94907	DKK1_HUMAN	dickkopf WNT signaling pathway inhibitor 1	175					cell morphogenesis involved in differentiation (GO:0000904)|embryonic limb morphogenesis (GO:0030326)|endoderm formation (GO:0001706)|extracellular negative regulation of signal transduction (GO:1900116)|face morphogenesis (GO:0060325)|forebrain development (GO:0030900)|hair follicle development (GO:0001942)|mesoderm formation (GO:0001707)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of canonical Wnt signaling pathway involved in cardiac muscle cell fate commitment (GO:1901296)|negative regulation of cardiac muscle cell differentiation (GO:2000726)|negative regulation of mesodermal cell fate specification (GO:0042662)|negative regulation of pathway-restricted SMAD protein phosphorylation (GO:0060394)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|negative regulation of protein complex assembly (GO:0031333)|negative regulation of skeletal muscle tissue development (GO:0048642)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of Wnt signaling pathway (GO:0030178)|positive regulation of heart induction by negative regulation of canonical Wnt signaling pathway (GO:0090082)|regulation of endodermal cell fate specification (GO:0042663)|regulation of receptor internalization (GO:0002090)|response to retinoic acid (GO:0032526)|Wnt signaling pathway involved in somitogenesis (GO:0090244)	extracellular space (GO:0005615)|plasma membrane (GO:0005886)	growth factor activity (GO:0008083)|low-density lipoprotein particle receptor binding (GO:0050750)|receptor antagonist activity (GO:0048019)|signal transducer activity (GO:0004871)			kidney(2)|large_intestine(4)|lung(7)|ovary(1)|upper_aerodigestive_tract(2)	16						AACCACCTTGTCTTCAAAAAT	0.368																																						ENST00000373970.3																			0				kidney(2)|large_intestine(4)|lung(7)|ovary(1)|upper_aerodigestive_tract(2)	16						c.(523-525)Tct>Cct		dickkopf WNT signaling pathway inhibitor 1							92	86	88					10																	54076171		2203	4300	6503	SO:0001583	missense	22943				negative regulation of peptidyl-serine phosphorylation|negative regulation of protein complex assembly|negative regulation of transcription from RNA polymerase II promoter|positive regulation of heart induction by negative regulation of canonical Wnt receptor signaling pathway|regulation of receptor internalization	extracellular space|plasma membrane	growth factor activity|low-density lipoprotein particle receptor binding|receptor antagonist activity|signal transducer activity	g.chr10:54076171T>C		CCDS7246.1	10q11.2	2013-05-15	2013-05-15		ENSG00000107984	ENSG00000107984			2891	protein-coding gene	gene with protein product		605189	"dickkopf (Xenopus laevis) homolog 1", "dickkopf 1 homolog (Xenopus laevis)"				Standard	NM_012242		Approved	SK, DKK-1	uc001jjr.3	O94907	OTTHUMG00000018247	ENST00000373970.3:c.523T>C	10.37:g.54076171T>C	ENSP00000363081:p.Ser175Pro					DKK1_ENST00000467359.1_3'UTR	p.S175P	NM_012242.2	NP_036374.1	O94907	DKK1_HUMAN			3	662	+			175					B2RC19	Missense_Mutation	SNP	ENST00000373970.3	37	c.523T>C	CCDS7246.1	.	.	.	.	.	.	.	.	.	.	T	4.784	0.145764	0.09134	.	.	ENSG00000107984	ENST00000373970	T	0.46063	0.88	5.82	2.14	0.27477	.	0.534090	0.20837	N	0.084771	T	0.17874	0.0429	N	0.04880	-0.145	0.19300	N	0.99998	B	0.15930	0.015	B	0.15052	0.012	T	0.18713	-1.0328	10	0.22706	T	0.39	0.0013	5.4548	0.16584	0.1327:0.1453:0.0:0.7219	.	175	O94907	DKK1_HUMAN	P	175	ENSP00000363081:S175P	ENSP00000363081:S175P	S	+	1	0	DKK1	53746177	0.003000	0.15002	0.160000	0.22671	0.417000	0.31264	0.065000	0.14466	0.111000	0.17947	0.459000	0.35465	TCT		0.368	DKK1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048100.1			4	74	0	0	0	1	0	4	74					C	54076171	T	C	54076171	3	2	251	1	0	0	0	0	1	0	0	0	4544	1667	58	4	533	4	DKK1	10	54076171	Missense_Mutation	SNP	T	TCGA-HC-A76W-01A-11D-A33T-08		54076171	81458576	28	11767											
KIF20B	9585	broad.mit.edu	37	chr10	91512349	91512349	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gaaaaatggaaggaaaaatgCaatgatttggaaaccaaaaa	23	6	9	3	0	0	1	0	1	0	0	0	5	0	4	1	3	2	1	1	3	9	1			TCGA-HC-A76W-01A-11D-A33T-08	TCGA-HC-A76W-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de77175f-808b-4fb9-9413-5e99254a9325	0f5b9970-388e-406b-ba7a-bad4b7724b53	g.chr10:91512349C>T	ENST00000371728.3	+	25	4313	c.4248C>T	c.(4246-4248)tgC>tgT	p.C1416C	KIF20B_ENST00000260753.4_Silent_p.C1376C|KIF20B_ENST00000394289.2_Silent_p.C1416C|KIF20B_ENST00000478929.1_3'UTR|KIF20B_ENST00000416354.1_Silent_p.C1446C	NM_001284259.1	NP_001271188.1	Q96Q89	KI20B_HUMAN	kinesin family member 20B	1416					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|microtubule-based movement (GO:0007018)|mitotic nuclear division (GO:0007067)|neural tube closure (GO:0001843)|regulation of establishment of cell polarity (GO:2000114)|regulation of establishment of protein localization (GO:0070201)|regulation of mitosis (GO:0007088)|regulation of neuron migration (GO:2001222)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|WW domain binding (GO:0050699)			endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	58						AGGAAAAATGCAATGATTTGG	0.328																																						ENST00000416354.1																			0				endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	58						c.(4336-4338)tgC>tgT		kinesin family member 20B							73	70	71					10																	91512349		2202	4297	6499	SO:0001819	synonymous_variant	9585				cell cycle arrest|cell division|microtubule-based movement|mitosis|regulation of mitosis	centrosome|microtubule|nucleolus|nucleoplasm|spindle	ATP binding|ATPase activity|microtubule motor activity|WW domain binding	g.chr10:91512349C>T	L16782	CCDS7407.1, CCDS60590.1	10q23.31	2009-08-06	2008-07-31	2008-07-31	ENSG00000138182	ENSG00000138182			7212	protein-coding gene	gene with protein product	"cancer/testis antigen 90"	605498	"M-phase phosphoprotein 1"	MPHOSPH1		8885239, 8290587, 11470801	Standard	NM_016195		Approved	MPP1, KRMP1, CT90	uc001kgr.1	Q96Q89	OTTHUMG00000018725	ENST00000371728.3:c.4248C>T	10.37:g.91512349C>T						KIF20B_ENST00000478929.1_3'UTR|KIF20B_ENST00000394289.2_Silent_p.C1416C|KIF20B_ENST00000371728.3_Silent_p.C1416C|KIF20B_ENST00000260753.4_Silent_p.C1376C	p.C1446C			Q96Q89	KI20B_HUMAN			25	4410	+			1416					A8MXM7|O43277|Q09471|Q2KQ73|Q32NE1|Q561V3|Q58EX8|Q5T9M8|Q5T9M9|Q5T9N0|Q5T9N1|Q7KZ68|Q7Z5E0|Q7Z5E1|Q7Z6M9|Q86X82|Q9H3R8|Q9H6Q9|Q9H755|Q9NTC1|Q9UFR5	Silent	SNP	ENST00000371728.3	37	c.4338C>T																																																																																					0.328	KIF20B-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000049330.1	NM_016195		11	20	0	0	0	1	0	11	20					T	91512349	C	T	91512349	2	4	251	1	0	0	0	0	0	0	0	1	8287	718	25	3		3	KIF20B	10	91512349	Silent	SNP	C	TCGA-HC-A76W-01A-11D-A33T-08	37436178	91512349	44022398	29	11768											
PPP2R5B	5526	broad.mit.edu	37	chr11	64694285	64694285	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tggccgacctcaaggggaagGaggtgaagcgggcagccctc	9	4	17	11	2	1	1	1	1	0	0	2	4	1	3	3	6	2	1	3	6	3	0			TCGA-HC-A76W-01A-11D-A33T-08	TCGA-HC-A76W-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de77175f-808b-4fb9-9413-5e99254a9325	0f5b9970-388e-406b-ba7a-bad4b7724b53	g.chr11:64694285G>T	ENST00000164133.2	+	3	923	c.301G>T	c.(301-303)Gag>Tag	p.E101*		NM_006244.3	NP_006235.1	Q15173	2A5B_HUMAN	protein phosphatase 2, regulatory subunit B', beta	101					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|protein phosphatase type 2A complex (GO:0000159)	protein phosphatase type 2A regulator activity (GO:0008601)			central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(9)|ovary(2)	21						CAAGGGGAAGGAGGTGAAGCG	0.632																																						ENST00000164133.2																			0				central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(9)|ovary(2)	21						c.(301-303)Gag>Tag		protein phosphatase 2, regulatory subunit B', beta							130	124	126					11																	64694285		2201	4297	6498	SO:0001587	stop_gained	5526				signal transduction	cytoplasm|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity	g.chr11:64694285G>T	L42374	CCDS8085.1	11q12	2010-06-18	2010-04-14		ENSG00000068971	ENSG00000068971		"Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"	9310	protein-coding gene	gene with protein product	"PP2A, B subunit, B' beta isoform", "PP2A, B subunit, B56 beta isoform", "PP2A, B subunit, PR61 beta isoform", "PP2A, B subunit, R5 beta isoform", "serine/threonine protein phosphatase 2A, 56 kDa regulatory subunit, beta isoform"	601644	"protein phosphatase 2, regulatory subunit B (B56), beta isoform", "protein phosphatase 2, regulatory subunit B', beta isoform"			7592815	Standard	NM_006244		Approved	FLJ35411, B56B, PR61B	uc001oby.3	Q15173	OTTHUMG00000150043	ENST00000164133.2:c.301G>T	11.37:g.64694285G>T	ENSP00000164133:p.Glu101*						p.E101*	NM_006244.3	NP_006235.1	Q15173	2A5B_HUMAN			3	923	+			101					Q13853	Nonsense_Mutation	SNP	ENST00000164133.2	37	c.301G>T	CCDS8085.1	.	.	.	.	.	.	.	.	.	.	G	42	9.404094	0.99161	.	.	ENSG00000068971	ENST00000526559;ENST00000164133;ENST00000359279;ENST00000532850;ENST00000527441	.	.	.	3.94	3.94	0.45596	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-28.569	14.2826	0.66224	0.0:0.0:1.0:0.0	.	.	.	.	X	101;101;128;15;101	.	ENSP00000164133:E101X	E	+	1	0	PPP2R5B	64450861	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.024000	0.93689	2.485000	0.83878	0.655000	0.94253	GAG		0.632	PPP2R5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385465.1	NM_006244		6	111	1	0	0.00116845	1	0.00120231	6	111					T	64694285	G	T	64694285	4	4	251	1	0	0	0	0	0	1	0	0	12393	1175	41	5	307	5	PPP2R5B	11	64694285	Nonsense_Mutation	SNP	G	TCGA-HC-A76W-01A-11D-A33T-08		64694285	70312231	30	11769											
UBASH3B	84959	broad.mit.edu	37	chr11	122659912	122659912	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atggagcagaccagcaccagCgagggttggatctatggcac	11	6	14	10	1	1	1	0	0	1	1	1	4	1	3	2	4	3	4	2	4	1	2	rs373957579		TCGA-HC-A76W-01A-11D-A33T-08	TCGA-HC-A76W-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de77175f-808b-4fb9-9413-5e99254a9325	0f5b9970-388e-406b-ba7a-bad4b7724b53	g.chr11:122659912C>T	ENST00000284273.5	+	6	1251	c.876C>T	c.(874-876)agC>agT	p.S292S		NM_032873.4	NP_116262.2	Q8TF42	UBS3B_HUMAN	ubiquitin associated and SH3 domain containing B	292	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				negative regulation of platelet aggregation (GO:0090331)|negative regulation of protein kinase activity (GO:0006469)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein tyrosine phosphatase activity (GO:0004725)			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(11)|prostate(1)|skin(2)|stomach(2)	26		Breast(109;0.00254)|Medulloblastoma(222;0.00877)|Lung NSC(97;0.0183)|all_lung(97;0.0186)|all_neural(223;0.0381)|all_hematologic(192;0.104)		BRCA - Breast invasive adenocarcinoma(274;1.37e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.0463)		CCAGCACCAGCGAGGGTTGGA	0.527																																						ENST00000284273.5																			0				breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(11)|prostate(1)|skin(2)|stomach(2)	26						c.(874-876)agC>agT		ubiquitin associated and SH3 domain containing B		C		1,4403	2.1+/-5.4	0,1,2201	178	173	175		876	-2.9	1	11		175	0,8598		0,0,4299	no	coding-synonymous	UBASH3B	NM_032873.4		0,1,6500	TT,TC,CC		0.0,0.0227,0.0077		292/650	122659912	1,13001	2202	4299	6501	SO:0001819	synonymous_variant	84959					cytoplasm|nucleus	protein tyrosine phosphatase activity	g.chr11:122659912C>T	AB075839	CCDS31694.1	11q24.1	2010-04-28	2010-04-28		ENSG00000154127	ENSG00000154127			29884	protein-coding gene	gene with protein product	"SH3 domain-containing 70 kDa protein, suppressor of T-cell receptor signaling 1, nm23-phosphorylated unknown substrate"	609201				11853319, 12370296	Standard	NM_032873		Approved	KIAA1959, STS-1	uc001pyi.4	Q8TF42	OTTHUMG00000166025	ENST00000284273.5:c.876C>T	11.37:g.122659912C>T							p.S292S	NM_032873.4	NP_116262.2	Q8TF42	UBS3B_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.37e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.0463)	6	1251	+		Breast(109;0.00254)|Medulloblastoma(222;0.00877)|Lung NSC(97;0.0183)|all_lung(97;0.0186)|all_neural(223;0.0381)|all_hematologic(192;0.104)	292			SH3.		Q53GT5|Q53GT8|Q8NBV7|Q96IG9|Q96NZ2	Silent	SNP	ENST00000284273.5	37	c.876C>T	CCDS31694.1																																																																																				0.527	UBASH3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387499.1	NM_032873		64	153	0	0	0	1	0	64	153					T	122659912	C	T	122659912	2	4	251	1	0	0	0	0	0	0	0	1	16837	767	27	1		1	UBASH3B	11	122659912	Silent	SNP	C	TCGA-HC-A76W-01A-11D-A33T-08	57965627	122659912	12346604	31	11770											
GALNT8	26290	broad.mit.edu	37	chr12	4853823	4853823	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggaagctgccacagcagacGtggtcgccatcttggatgct	8	8	14	11	2	1	1	0	0	1	1	2	3	1	3	2	3	4	3	2	3	1	1			TCGA-HC-A76W-01A-11D-A33T-08	TCGA-HC-A76W-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de77175f-808b-4fb9-9413-5e99254a9325	0f5b9970-388e-406b-ba7a-bad4b7724b53	g.chr12:4853823G>A	ENST00000252318.2	+	4	1154	c.817G>A	c.(817-819)Gtg>Atg	p.V273M		NM_017417.1	NP_059113.1	Q9NY28	GALT8_HUMAN	polypeptide N-acetylgalactosaminyltransferase 8	273	Catalytic subdomain A.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	35						CACAGCAGACGTGGTCGCCAT	0.498																																					Colon(108;631 1558 7270 20097 39846)	ENST00000252318.2																			0				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	35						c.(817-819)Gtg>Atg		UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 8 (GalNAc-T8)							65	50	55					12																	4853823		2203	4300	6503	SO:0001583	missense	26290					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr12:4853823G>A	AJ271385	CCDS8533.1	12p13.32	2014-03-13	2014-03-13		ENSG00000130035	ENSG00000130035	2.4.1.41	"Glycosyltransferase family 2 domain containing"	4130	protein-coding gene	gene with protein product	"polypeptide GalNAc transferase 8"	606250	"UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 8 (GalNAc-T8)"			10767557	Standard	NM_017417		Approved	GALNAC-T8	uc001qne.1	Q9NY28	OTTHUMG00000166188	ENST00000252318.2:c.817G>A	12.37:g.4853823G>A	ENSP00000252318:p.Val273Met						p.V273M	NM_017417.1	NP_059113.1	Q9NY28	GALT8_HUMAN			4	1154	+			273			Catalytic subdomain A.		B2RU02	Missense_Mutation	SNP	ENST00000252318.2	37	c.817G>A	CCDS8533.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.035132	0.75617	.	.	ENSG00000130035	ENST00000252318	T	0.60424	0.19	4.5	4.5	0.54988	Glycosyl transferase, family 2 (1);	0.000000	0.64402	D	0.000003	T	0.74809	0.3765	M	0.85197	2.74	0.43308	D	0.995316	D	0.89917	1.0	D	0.97110	1.0	T	0.77115	-0.2707	9	.	.	.	.	8.3421	0.32249	0.1049:0.0:0.8951:0.0	.	273	Q9NY28	GALT8_HUMAN	M	273	ENSP00000252318:V273M	.	V	+	1	0	GALNT8	4724084	1.000000	0.71417	0.981000	0.43875	0.978000	0.69477	3.889000	0.56212	2.330000	0.79161	0.484000	0.47621	GTG		0.498	GALNT8-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388277.2	NM_017417		10	20	0	0	0	1	0	10	20					A	4853823	G	A	4853823	3	1	251	1	0	0	0	0	1	0	0	0	6219	1145	40	1	831	1	GALNT8	12	4853823	Missense_Mutation	SNP	G	TCGA-HC-A76W-01A-11D-A33T-08		4853823	128998072	32	11771											
ARNTL2	56938	broad.mit.edu	37	chr12	27540209	27540209	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gatgtgaaagaggaaaaattCtcttcgtttctaagtcagtc	13	13	9	6	1	3	2	1	1	2	1	6	4	3	3	0	1	0	1	0	1	4	4			TCGA-HC-A76W-01A-11D-A33T-08	TCGA-HC-A76W-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de77175f-808b-4fb9-9413-5e99254a9325	0f5b9970-388e-406b-ba7a-bad4b7724b53	g.chr12:27540209C>T	ENST00000266503.5	+	7	631	c.613C>T	c.(613-615)Ctc>Ttc	p.L205F	ARNTL2_ENST00000395901.2_Missense_Mutation_p.L168F|ARNTL2_ENST00000542388.1_Missense_Mutation_p.L120F|ARNTL2_ENST00000311001.5_Missense_Mutation_p.L191F|ARNTL2_ENST00000261178.5_Missense_Mutation_p.L157F|ARNTL2_ENST00000546179.1_Missense_Mutation_p.L168F|ARNTL2_ENST00000544915.1_Missense_Mutation_p.L171F|RP11-165P7.1_ENST00000500498.2_RNA			Q8WYA1	BMAL2_HUMAN	aryl hydrocarbon receptor nuclear translocator-like 2	205	Interaction with PER2. {ECO:0000250|UniProtKB:Q2VPD4}.|PAS 1. {ECO:0000255|PROSITE- ProRule:PRU00140}.				circadian rhythm (GO:0007623)|entrainment of circadian clock (GO:0009649)|positive regulation of circadian rhythm (GO:0042753)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	E-box binding (GO:0070888)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity (GO:0000982)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			breast(1)|endometrium(2)|large_intestine(5)|lung(9)|ovary(1)|skin(2)|urinary_tract(1)	21	Colorectal(261;0.0847)|Lung SC(9;0.184)					AGGAAAAATTCTCTTCGTTTC	0.289																																						ENST00000544915.1																			0				breast(1)|endometrium(2)|large_intestine(5)|lung(9)|ovary(1)|skin(2)|urinary_tract(1)	21						c.(511-513)Ctc>Ttc		aryl hydrocarbon receptor nuclear translocator-like 2							113	116	115					12																	27540209		2203	4300	6503	SO:0001583	missense	56938				circadian rhythm|entrainment of circadian clock|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr12:27540209C>T	AF246961	CCDS8712.1, CCDS58219.1, CCDS58220.1, CCDS58221.1, CCDS58222.1	12p12.2-p11.2	2013-05-21			ENSG00000029153	ENSG00000029153		"Basic helix-loop-helix proteins"	18984	protein-coding gene	gene with protein product		614517				10864977, 10964693	Standard	NM_020183		Approved	BMAL2, MOP9, CLIF, PASD9, bHLHe6	uc001rht.2	Q8WYA1	OTTHUMG00000169257	ENST00000266503.5:c.613C>T	12.37:g.27540209C>T	ENSP00000266503:p.Leu205Phe					ARNTL2_ENST00000261178.5_Missense_Mutation_p.L157F|ARNTL2_ENST00000311001.5_Missense_Mutation_p.L191F|ARNTL2_ENST00000542388.1_Missense_Mutation_p.L120F|ARNTL2_ENST00000395901.2_Missense_Mutation_p.L168F|ARNTL2_ENST00000546179.1_Missense_Mutation_p.L168F|ARNTL2_ENST00000266503.5_Missense_Mutation_p.L205F	p.L171F	NM_020183.4	NP_064568.3	Q8WYA1	BMAL2_HUMAN			6	730	+	Colorectal(261;0.0847)|Lung SC(9;0.184)		205					B7Z429|F5H402|Q8WYA2|Q8WYA3|Q8WYA4|Q96J63|Q9H2M4|Q9NS70|Q9NYQ4|Q9NYQ5	Missense_Mutation	SNP	ENST00000266503.5	37	c.511C>T	CCDS8712.1	.	.	.	.	.	.	.	.	.	.	C	14.59	2.582072	0.46006	.	.	ENSG00000029153	ENST00000544915;ENST00000395901;ENST00000546179;ENST00000311001;ENST00000261178;ENST00000266503;ENST00000542388	T;T;T;T;T;T;T	0.19669	2.13;2.13;2.13;2.13;2.13;2.13;2.13	3.79	0.756	0.18421	PAS (2);PAS fold (1);	0.625655	0.15693	N	0.249353	T	0.28962	0.0719	M	0.61387	1.9	0.36521	D	0.870156	B;P;B;B;P;P	0.44578	0.245;0.838;0.245;0.245;0.468;0.566	B;P;B;B;B;P	0.52343	0.222;0.696;0.222;0.222;0.258;0.624	T	0.23583	-1.0184	10	0.54805	T	0.06	.	5.174	0.15126	0.1628:0.6583:0.0:0.1789	.	168;171;168;157;191;205	F5H402;Q8WYA1-5;Q8WYA1-3;Q8WYA1-4;Q8WYA1-2;Q8WYA1	.;.;.;.;.;BMAL2_HUMAN	F	171;168;168;191;157;205;120	ENSP00000442438:L171F;ENSP00000379238:L168F;ENSP00000438545:L168F;ENSP00000312247:L191F;ENSP00000261178:L157F;ENSP00000266503:L205F;ENSP00000445836:L120F	ENSP00000261178:L157F	L	+	1	0	ARNTL2	27431476	0.127000	0.22367	0.998000	0.56505	0.993000	0.82548	0.043000	0.13971	0.040000	0.15660	0.655000	0.94253	CTC		0.289	ARNTL2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000403162.1	NM_020183		17	45	0	0	0	1	0	17	45					T	27540209	C	T	27540209	3	4	251	1	0	0	0	0	1	0	0	0	968	913	32	3	639	3	ARNTL2	12	27540209	Missense_Mutation	SNP	C	TCGA-HC-A76W-01A-11D-A33T-08	22686386	27540209	106311686	33	11772											
DNM1L	10059	broad.mit.edu	37	chr12	32884346	32884346	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tttgagttactggtgaagcgGcaaatcaaacgtctagaaga	14	10	11	6	2	2	4	1	2	1	2	2	4	2	4	0	2	3	2	0	2	6	3			TCGA-HC-A76W-01A-11D-A33T-08	TCGA-HC-A76W-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de77175f-808b-4fb9-9413-5e99254a9325	0f5b9970-388e-406b-ba7a-bad4b7724b53	g.chr12:32884346G>A	ENST00000549701.1	+	11	1331	c.1257G>A	c.(1255-1257)cgG>cgA	p.R419R	DNM1L_ENST00000547312.1_Silent_p.R419R|DNM1L_ENST00000553257.1_Silent_p.R432R|DNM1L_ENST00000452533.2_Silent_p.R419R|DNM1L_ENST00000414834.2_Silent_p.R216R|DNM1L_ENST00000358214.5_Silent_p.R432R|DNM1L_ENST00000266481.6_Silent_p.R419R|YARS2_ENST00000551673.1_Intron|DNM1L_ENST00000381000.4_Silent_p.R432R			O00429	DNM1L_HUMAN	dynamin 1-like	419	Middle domain.				apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|dynamin polymerization involved in mitochondrial fission (GO:0003374)|endocytosis (GO:0006897)|GTP catabolic process (GO:0006184)|membrane fission involved in mitochondrial fission (GO:0090149)|membrane fusion (GO:0061025)|mitochondrial fission (GO:0000266)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|mitochondrion morphogenesis (GO:0070584)|necroptotic process (GO:0070266)|peroxisome fission (GO:0016559)|positive regulation of apoptotic process (GO:0043065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial fission (GO:0090141)|positive regulation of protein secretion (GO:0050714)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|protein homotetramerization (GO:0051289)|protein localization to mitochondrion (GO:0070585)|regulation of mitochondrion organization (GO:0010821)|regulation of peroxisome organization (GO:1900063)|regulation of protein oligomerization (GO:0032459)|release of cytochrome c from mitochondria (GO:0001836)	cell junction (GO:0030054)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|microtubule (GO:0005874)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|perinuclear region of cytoplasm (GO:0048471)|peroxisome (GO:0005777)|protein complex (GO:0043234)|synapse (GO:0045202)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|lipid binding (GO:0008289)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	23	Lung NSC(5;2.15e-06)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)					TGGTGAAGCGGCAAATCAAAC	0.418																																						ENST00000452533.2																			0				cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	23						c.(1255-1257)cgG>cgA		dynamin 1-like							111	115	113					12																	32884346		2203	4300	6503	SO:0001819	synonymous_variant	10059				cellular component disassembly involved in apoptosis|mitochondrial fragmentation involved in apoptosis|mitochondrial membrane organization|positive regulation of mitochondrial fission	cis-Golgi network|cytosol|endomembrane system|endoplasmic reticulum|mitochondrial outer membrane	GTP binding|GTPase activity|ubiquitin protein ligase binding	g.chr12:32884346G>A	AF000430	CCDS8728.1, CCDS8729.1, CCDS8730.1, CCDS61095.1, CCDS61096.1, CCDS61098.1, CCDS61099.1	12p11.21	2012-10-02			ENSG00000087470	ENSG00000087470			2973	protein-coding gene	gene with protein product		603850				9348079, 9731200	Standard	NM_012062		Approved	DRP1, DVLP, HDYNIV, DYMPLE, VPS1	uc001rld.2	O00429	OTTHUMG00000169451	ENST00000549701.1:c.1257G>A	12.37:g.32884346G>A						YARS2_ENST00000551673.1_Intron|DNM1L_ENST00000381000.4_Silent_p.R432R|DNM1L_ENST00000553257.1_Silent_p.R432R|DNM1L_ENST00000358214.5_Silent_p.R432R|DNM1L_ENST00000414834.2_Silent_p.R216R|DNM1L_ENST00000549701.1_Silent_p.R419R|DNM1L_ENST00000266481.6_Silent_p.R419R|DNM1L_ENST00000547312.1_Silent_p.R419R	p.R419R	NM_012062.3|NM_012063.2	NP_036192.2|NP_036193.2	O00429	DNM1L_HUMAN			11	1421	+	Lung NSC(5;2.15e-06)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)		419			Middle domain.		A8K4X9|B4DGC9|B4DSU8|J3KPI2|O14541|O60709|Q59GN9|Q7L6B3|Q8TBT7|Q9BWM1|Q9Y5J2	Silent	SNP	ENST00000549701.1	37	c.1257G>A	CCDS8729.1																																																																																				0.418	DNM1L-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000404124.1	NM_012062		4	126	0	0	0	1	0	4	126					A	32884346	G	A	32884346	2	1	251	1	0	0	0	0	0	0	0	1	4671	1190	42	3		3	DNM1L	12	32884346	Silent	SNP	G	TCGA-HC-A76W-01A-11D-A33T-08	5344137	32884346	100967549	34	11773											
FAM186B	84070	broad.mit.edu	37	chr12	49994194	49994203	+	Frame_Shift_Del	DEL	GTGTCCTTGC	GTGTCCTTGC	-																															gcacaggctcaaggctctcaGtgtccttgctgccgaacaca																										TCGA-HC-A76W-01A-11D-A33T-08	TCGA-HC-A76W-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de77175f-808b-4fb9-9413-5e99254a9325	0f5b9970-388e-406b-ba7a-bad4b7724b53	g.chr12:49994194_49994203delGTGTCCTTGC	ENST00000257894.2	-	4	1381_1390	c.1220_1229delGCAAGGACAC	c.(1219-1230)agcaaggacactfs	p.SKDT407fs	FAM186B_ENST00000544141.1_Frame_Shift_Del_p.SKDT317fs|FAM186B_ENST00000551047.1_Intron|PRPF40B_ENST00000508736.1_3'UTR	NM_032130.2	NP_115506.1	Q8IYM0	F186B_HUMAN	family with sequence similarity 186, member B	407						protein complex (GO:0043234)				breast(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						AAGGCTCTCAGTGTCCTTGCTGCCGAACAC	0.538																																						ENST00000544141.1																			0				breast(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(949-960)atfs		family with sequence similarity 186, member B																																				SO:0001589	frameshift_variant	84070					protein complex		g.chr12:49994194_49994203delGTGTCCTTGC	AL136748	CCDS8788.1	12q13.12	2008-09-17	2008-09-17	2008-09-17	ENSG00000135436	ENSG00000135436			25296	protein-coding gene	gene with protein product			"chromosome 12 open reading frame 25"	C12orf25		11230166	Standard	NM_032130		Approved	DKFZP434J0113	uc001ruo.3	Q8IYM0	OTTHUMG00000167427	ENST00000257894.2:c.1220_1229delGCAAGGACAC	12.37:g.49994194_49994203delGTGTCCTTGC	ENSP00000257894:p.Ser407fs					PRPF40B_ENST00000508736.1_3'UTR|FAM186B_ENST00000257894.2_Frame_Shift_Del_p.SKDT407fs|FAM186B_ENST00000551047.1_Intron	p.SKDT317fs			Q8IYM0	F186B_HUMAN			4	1549_1558	-			407					B4DZ15|Q8TCP7|Q9H0L3	Frame_Shift_Del	DEL	ENST00000257894.2	37	c.950_959delGCAAGGACAC	CCDS8788.1																																																																																				0.538	FAM186B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394583.2	NM_032130		21	85						21	85	---	---	---	---	-	49994203	GTGTCCTTGC	-	49994194	7	5	251	1	0	1	0	1	0	0	0	0	5512	1029	36	0	1468	0	FAM186B	12	49994194	Frame_Shift_Del	DEL	GTGTCCTTGC	TCGA-HC-A76W-01A-11D-A33T-08	17109848	49994194	83857701	35	11774											
MYO1A	4640	broad.mit.edu	37	chr12	57430737	57430737	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgaccgtaccatgtttccccGaaaccaagaggagatgagga	13	7	11	10	2	0	4	0	2	0	2	1	7	1	5	5	2	2	2	5	2	3	2			TCGA-HC-A76W-01A-11D-A33T-08	TCGA-HC-A76W-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de77175f-808b-4fb9-9413-5e99254a9325	0f5b9970-388e-406b-ba7a-bad4b7724b53	g.chr12:57430737G>A	ENST00000442789.2	-	21	2481	c.2194C>T	c.(2194-2196)Cgg>Tgg	p.R732W	MYO1A_ENST00000544473.1_Missense_Mutation_p.R570W|MYO1A_ENST00000476795.1_5'Flank|MYO1A_ENST00000300119.3_Missense_Mutation_p.R732W	NM_001256041.1	NP_001242970.1	Q9UBC5	MYO1A_HUMAN	myosin IA	732	IQ 2. {ECO:0000255|PROSITE- ProRule:PRU00116}.				microvillus assembly (GO:0030033)|sensory perception of sound (GO:0007605)|vesicle localization (GO:0051648)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|basolateral plasma membrane (GO:0016323)|brush border (GO:0005903)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|filamentous actin (GO:0031941)|lateral plasma membrane (GO:0016328)|microvillus (GO:0005902)|myosin complex (GO:0016459)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(7)|urinary_tract(3)	50						ATGTTTCCCCGAAACCAAGAG	0.517																																						ENST00000442789.2																			0				breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(7)|urinary_tract(3)	50						c.(2194-2196)Cgg>Tgg		myosin IA							130	125	127					12																	57430737		2203	4300	6503	SO:0001583	missense	4640				sensory perception of sound|vesicle localization	brush border|cortical actin cytoskeleton|filamentous actin|lateral plasma membrane|microvillus|myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	g.chr12:57430737G>A	L29137	CCDS8929.1	12q13-q15	2011-09-27			ENSG00000166866	ENSG00000166866		"Myosins / Myosin superfamily : Class I"	7595	protein-coding gene	gene with protein product		601478		MYHL, DFNA48		8884266, 12736868	Standard	NM_001256041		Approved		uc009zpd.3	Q9UBC5	OTTHUMG00000149899	ENST00000442789.2:c.2194C>T	12.37:g.57430737G>A	ENSP00000393392:p.Arg732Trp					MYO1A_ENST00000544473.1_Missense_Mutation_p.R570W|MYO1A_ENST00000300119.3_Missense_Mutation_p.R732W	p.R732W	NM_001256041.1	NP_001242970.1	Q9UBC5	MYO1A_HUMAN			21	2481	-			732			IQ 2.		Q9UQD7	Missense_Mutation	SNP	ENST00000442789.2	37	c.2194C>T	CCDS8929.1	.	.	.	.	.	.	.	.	.	.	G	17.72	3.458053	0.63401	.	.	ENSG00000166866	ENST00000300119;ENST00000442789;ENST00000544473	D;D;D	0.93247	-3.06;-3.06;-3.19	5.16	5.16	0.70880	.	0.000000	0.85682	D	0.000000	D	0.97816	0.9283	H	0.98133	4.155	0.58432	D	0.999999	D	0.89917	1.0	D	0.85130	0.997	D	0.98251	1.0493	10	0.87932	D	0	.	11.5826	0.50900	0.0:0.0:0.8217:0.1783	.	732	Q9UBC5	MYO1A_HUMAN	W	732;732;570	ENSP00000300119:R732W;ENSP00000393392:R732W;ENSP00000440514:R570W	ENSP00000300119:R732W	R	-	1	2	MYO1A	55717004	1.000000	0.71417	1.000000	0.80357	0.303000	0.27691	1.674000	0.37544	2.570000	0.86706	0.563000	0.77884	CGG		0.517	MYO1A-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313833.2	NM_005379		37	80	0	0	0	1	0	37	80					A	57430737	G	A	57430737	3	1	251	1	0	0	0	0	1	0	0	0	10068	1057	37	2	973	2	MYO1A	12	57430737	Missense_Mutation	SNP	G	TCGA-HC-A76W-01A-11D-A33T-08	7436543	57430737	76421158	36	11775											
NID2	22795	broad.mit.edu	37	chr14	52520474	52520474	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggtagggctggatgcttcCgttttcggggtacggtggtg	3	13	19	6	3	0	0	0	0	0	0	2	1	1	1	1	7	2	5	1	7	2	5			TCGA-HC-A76W-01A-11D-A33T-08	TCGA-HC-A76W-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de77175f-808b-4fb9-9413-5e99254a9325	0f5b9970-388e-406b-ba7a-bad4b7724b53	g.chr14:52520474C>T	ENST00000216286.5	-	5	1251	c.1252G>A	c.(1252-1254)Gga>Aga	p.G418R	NID2_ENST00000541773.1_Missense_Mutation_p.G365R	NM_007361.3	NP_031387.3	Q14112	NID2_HUMAN	nidogen 2 (osteonidogen)	418					basement membrane organization (GO:0071711)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|cell surface (GO:0009986)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)			NS(1)|breast(5)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(40)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	87	Breast(41;0.0639)|all_epithelial(31;0.123)					TGGATGCTTCCGTTTTCGGGG	0.562																																						ENST00000216286.5																			0				NS(1)|breast(5)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(40)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	87						c.(1252-1254)Gga>Aga		nidogen 2 (osteonidogen)							95	88	90					14																	52520474		2203	4300	6503	SO:0001583	missense	22795					basement membrane	calcium ion binding|collagen binding	g.chr14:52520474C>T	AB009799	CCDS9706.1	14q22.1	2008-05-14			ENSG00000087303	ENSG00000087303			13389	protein-coding gene	gene with protein product		605399				9733643	Standard	NM_007361		Approved		uc001wzo.3	Q14112	OTTHUMG00000140298	ENST00000216286.5:c.1252G>A	14.37:g.52520474C>T	ENSP00000216286:p.Gly418Arg					NID2_ENST00000541773.1_Missense_Mutation_p.G365R	p.G418R	NM_007361.3	NP_031387.3	Q14112	NID2_HUMAN			5	1251	-	Breast(41;0.0639)|all_epithelial(31;0.123)		418					A8K6I7|B4DU19|O43710	Missense_Mutation	SNP	ENST00000216286.5	37	c.1252G>A	CCDS9706.1	.	.	.	.	.	.	.	.	.	.	C	1.161	-0.643693	0.03531	.	.	ENSG00000087303	ENST00000216286;ENST00000541773;ENST00000395707	D;D	0.82803	-1.65;-1.53	3.75	0.0609	0.14338	.	1.184840	0.06042	N	0.655113	T	0.59238	0.2179	N	0.02539	-0.55	0.09310	N	1	B;B;B	0.09022	0.0;0.002;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.46034	-0.9220	10	0.14656	T	0.56	.	6.2929	0.21069	0.0:0.5581:0.0:0.4419	.	365;420;418	Q14112-2;Q5CZI2;Q14112	.;.;NID2_HUMAN	R	418;365;420	ENSP00000216286:G418R;ENSP00000443730:G365R	ENSP00000216286:G418R	G	-	1	0	NID2	51590224	0.000000	0.05858	0.000000	0.03702	0.064000	0.16182	0.211000	0.17474	-0.156000	0.11079	-0.339000	0.08088	GGA		0.562	NID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276888.1			3	64	0	0	0	1	0	3	64					T	52520474	C	T	52520474	3	4	251	1	0	0	0	0	1	0	0	0	10415	661	23	2	2947	2	NID2	14	52520474	Missense_Mutation	SNP	C	TCGA-HC-A76W-01A-11D-A33T-08		52520474	54829066	37	11776											
BMP4	652	broad.mit.edu	37	chr14	54417158	54417158	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cggccatcatggccaaaggtGaccaggaggggccggagctg	9	4	17	11	2	1	1	1	1	0	0	1	3	1	3	4	7	1	1	4	7	1	0			TCGA-HC-A76W-01A-11D-A33T-08	TCGA-HC-A76W-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de77175f-808b-4fb9-9413-5e99254a9325	0f5b9970-388e-406b-ba7a-bad4b7724b53	g.chr14:54417158G>A	ENST00000245451.4	-	4	1212	c.819C>T	c.(817-819)gtC>gtT	p.V273V	MIR5580_ENST00000580850.1_RNA|BMP4_ENST00000558984.1_Silent_p.V273V|BMP4_ENST00000559087.1_Silent_p.V273V|BMP4_ENST00000417573.1_Silent_p.V273V	NM_001202.3	NP_001193.2	P12644	BMP4_HUMAN	bone morphogenetic protein 4	273					activation of MAPKK activity (GO:0000186)|anterior/posterior axis specification (GO:0009948)|blood vessel endothelial cell proliferation involved in sprouting angiogenesis (GO:0002043)|BMP signaling pathway (GO:0030509)|BMP signaling pathway involved in heart induction (GO:0003130)|BMP signaling pathway involved in nephric duct formation (GO:0071893)|BMP signaling pathway involved in renal system segmentation (GO:0061151)|BMP signaling pathway involved in ureter morphogenesis (GO:0061149)|branching involved in prostate gland morphogenesis (GO:0060442)|branching involved in ureteric bud morphogenesis (GO:0001658)|branching morphogenesis of an epithelial tube (GO:0048754)|bronchus development (GO:0060433)|bud dilation involved in lung branching (GO:0060503)|bud elongation involved in lung branching (GO:0060449)|cardiac septum development (GO:0003279)|cellular response to growth factor stimulus (GO:0071363)|chondrocyte differentiation (GO:0002062)|cloacal septation (GO:0060197)|common-partner SMAD protein phosphorylation (GO:0007182)|cranial suture morphogenesis (GO:0060363)|deltoid tuberosity development (GO:0035993)|dorsal/ventral neural tube patterning (GO:0021904)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic digit morphogenesis (GO:0042733)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic skeletal joint morphogenesis (GO:0060272)|endocardial cushion development (GO:0003197)|endochondral ossification (GO:0001958)|epithelial cell proliferation involved in lung morphogenesis (GO:0060502)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|epithelial-mesenchymal cell signaling (GO:0060684)|erythrocyte differentiation (GO:0030218)|extracellular matrix organization (GO:0030198)|germ cell development (GO:0007281)|glomerular capillary formation (GO:0072104)|glomerular visceral epithelial cell development (GO:0072015)|hematopoietic progenitor cell differentiation (GO:0002244)|inner ear receptor cell differentiation (GO:0060113)|intermediate mesodermal cell differentiation (GO:0048392)|kidney development (GO:0001822)|lens induction in camera-type eye (GO:0060235)|lung alveolus development (GO:0048286)|lung morphogenesis (GO:0060425)|lymphoid progenitor cell differentiation (GO:0002320)|macrophage differentiation (GO:0030225)|mammary gland formation (GO:0060592)|mesenchymal cell differentiation involved in kidney development (GO:0072161)|mesenchymal cell proliferation involved in ureter development (GO:0072198)|mesenchymal cell proliferation involved in ureteric bud development (GO:0072138)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|mesodermal cell fate determination (GO:0007500)|mesonephros development (GO:0001823)|metanephric collecting duct development (GO:0072205)|monocyte differentiation (GO:0030224)|negative regulation of apoptotic process (GO:0043066)|negative regulation of branch elongation involved in ureteric bud branching by BMP signaling pathway (GO:0072097)|negative regulation of branching involved in ureteric bud morphogenesis (GO:0090191)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell death (GO:0060548)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell proliferation involved in heart morphogenesis (GO:2000137)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of glomerular mesangial cell proliferation (GO:0072125)|negative regulation of glomerulus development (GO:0090194)|negative regulation of immature T cell proliferation in thymus (GO:0033088)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of mesenchymal cell proliferation involved in ureter development (GO:0072200)|negative regulation of metanephric comma-shaped body morphogenesis (GO:2000007)|negative regulation of metanephric S-shaped body morphogenesis (GO:2000005)|negative regulation of mitosis (GO:0045839)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of phosphorylation (GO:0042326)|negative regulation of prostatic bud formation (GO:0060686)|negative regulation of striated muscle tissue development (GO:0045843)|negative regulation of T cell differentiation in thymus (GO:0033085)|negative regulation of thymocyte apoptotic process (GO:0070244)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|neuron fate commitment (GO:0048663)|odontogenesis (GO:0042476)|odontogenesis of dentin-containing tooth (GO:0042475)|osteoblast differentiation (GO:0001649)|pituitary gland development (GO:0021983)|positive chemotaxis (GO:0050918)|positive regulation of apoptotic process (GO:0043065)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of bone mineralization (GO:0030501)|positive regulation of branching involved in lung morphogenesis (GO:0061047)|positive regulation of cardiac muscle fiber development (GO:0055020)|positive regulation of cartilage development (GO:0061036)|positive regulation of cell death (GO:0010942)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of DNA-dependent DNA replication (GO:2000105)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of epidermal cell differentiation (GO:0045606)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of kidney development (GO:0090184)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of ossification (GO:0045778)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|post-embryonic development (GO:0009791)|protein localization to nucleus (GO:0034504)|pulmonary artery endothelial tube morphogenesis (GO:0061155)|regulation of branching involved in prostate gland morphogenesis (GO:0060687)|regulation of cell fate commitment (GO:0010453)|regulation of odontogenesis of dentin-containing tooth (GO:0042487)|regulation of pathway-restricted SMAD protein phosphorylation (GO:0060393)|regulation of smooth muscle cell differentiation (GO:0051150)|renal system development (GO:0072001)|renal system process (GO:0003014)|secondary heart field specification (GO:0003139)|SMAD protein signal transduction (GO:0060395)|smooth muscle tissue development (GO:0048745)|smoothened signaling pathway (GO:0007224)|specification of organ position (GO:0010159)|specification of ureteric bud anterior/posterior symmetry by BMP signaling pathway (GO:0072101)|steroid hormone mediated signaling pathway (GO:0043401)|telencephalon development (GO:0021537)|telencephalon regionalization (GO:0021978)|tendon cell differentiation (GO:0035990)|trachea development (GO:0060438)|trachea formation (GO:0060440)|type B pancreatic cell development (GO:0003323)|ureter epithelial cell differentiation (GO:0072192)|ureter smooth muscle cell differentiation (GO:0072193)|ureteric bud development (GO:0001657)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	BMP receptor binding (GO:0070700)|chemoattractant activity (GO:0042056)|cytokine activity (GO:0005125)|heparin binding (GO:0008201)			breast(1)|endometrium(3)|large_intestine(2)|lung(9)|prostate(3)|urinary_tract(1)	19						GGCCAAAGGTGACCAGGAGGG	0.617																																						ENST00000245451.4																			0				breast(1)|endometrium(3)|large_intestine(2)|lung(9)|prostate(3)|urinary_tract(1)	19						c.(817-819)gtC>gtT		bone morphogenetic protein 4							40	40	40					14																	54417158		2203	4300	6503	SO:0001819	synonymous_variant	652				activation of MAPKK activity|blood vessel endothelial cell proliferation involved in sprouting angiogenesis|BMP signaling pathway involved in heart induction|BMP signaling pathway involved in nephric duct formation|branching involved in ureteric bud morphogenesis|bronchus development|bud dilation involved in lung branching|cardiac septum development|cartilage development|endocardial cushion development|epithelial cell proliferation involved in lung morphogenesis|intermediate mesodermal cell differentiation|lung alveolus development|lymphoid progenitor cell differentiation|mesenchymal to epithelial transition involved in metanephros morphogenesis|mesonephros development|negative regulation of branch elongation involved in ureteric bud branching by BMP signaling pathway|negative regulation of branching involved in ureteric bud morphogenesis|negative regulation of cell proliferation involved in heart morphogenesis|negative regulation of glomerular mesangial cell proliferation|negative regulation of glomerulus development|negative regulation of immature T cell proliferation in thymus|negative regulation of MAP kinase activity|negative regulation of metanephric comma-shaped body morphogenesis|negative regulation of metanephric S-shaped body morphogenesis|negative regulation of mitosis|negative regulation of myoblast differentiation|negative regulation of phosphorylation|negative regulation of striated muscle tissue development|negative regulation of thymocyte apoptosis|negative regulation of transcription from RNA polymerase II promoter|osteoblast differentiation|positive regulation of apoptosis|positive regulation of bone mineralization|positive regulation of cardiac muscle fiber development|positive regulation of cartilage development|positive regulation of collagen biosynthetic process|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of kidney development|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of smooth muscle cell proliferation|positive regulation of transcription from RNA polymerase II promoter|post-embryonic development|protein localization to nucleus|pulmonary artery endothelial tube morphogenesis|secondary heart field specification|SMAD protein signal transduction|specification of ureteric bud anterior/posterior symmetry by BMP signaling pathway|steroid hormone mediated signaling pathway	extracellular space|proteinaceous extracellular matrix	BMP receptor binding|chemoattractant activity|cytokine activity|growth factor activity	g.chr14:54417158G>A	AF035427	CCDS9715.1	14q22-q23	2014-01-30			ENSG00000125378	ENSG00000125378		"Bone morphogenetic proteins", "Endogenous ligands"	1071	protein-coding gene	gene with protein product		112262		BMP2B		7558046, 7579580	Standard	NM_001202		Approved		uc010aoh.3	P12644	OTTHUMG00000140303	ENST00000245451.4:c.819C>T	14.37:g.54417158G>A						BMP4_ENST00000558984.1_Silent_p.V273V|BMP4_ENST00000559087.1_Silent_p.V273V|BMP4_ENST00000417573.1_Silent_p.V273V	p.V273V	NM_001202.3	NP_001193.2	P12644	BMP4_HUMAN			4	1212	-			273					Q9UM80	Silent	SNP	ENST00000245451.4	37	c.819C>T	CCDS9715.1																																																																																				0.617	BMP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276894.2	NM_001202		14	35	0	0	0	1	0	14	35					A	54417158	G	A	54417158	2	1	251	1	0	0	0	0	0	0	0	1	1462	1277	45	3		3	BMP4	14	54417158	Silent	SNP	G	TCGA-HC-A76W-01A-11D-A33T-08	1896684	54417158	52932382	38	11777											
TARSL2	123283	broad.mit.edu	37	chr15	102241290	102241290	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cattttaaagttaacttactCgtatgaaatctgtaagcgta	14	15	6	6	2	1	1	0	1	1	0	2	1	1	1	0	0	3	4	0	0	8	7			TCGA-HC-A76W-01A-11D-A33T-08	TCGA-HC-A76W-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de77175f-808b-4fb9-9413-5e99254a9325	0f5b9970-388e-406b-ba7a-bad4b7724b53	g.chr15:102241290C>T	ENST00000335968.3	-	10	1535	c.1319G>A	c.(1318-1320)cGa>cAa	p.R440Q		NM_152334.2	NP_689547.2	A2RTX5	SYTC2_HUMAN	threonyl-tRNA synthetase-like 2	440					threonyl-tRNA aminoacylation (GO:0006435)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|threonine-tRNA ligase activity (GO:0004829)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(14)|ovary(2)|skin(1)|urinary_tract(1)	29	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000268)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			TTAACTTACTCGTATGAAATC	0.313																																						ENST00000335968.3																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(14)|ovary(2)|skin(1)|urinary_tract(1)	29						c.e10+1		threonyl-tRNA synthetase-like 2							36	38	38					15																	102241290		2201	4297	6498	SO:0001630	splice_region_variant	123283				threonyl-tRNA aminoacylation	cytoplasm	ATP binding|threonine-tRNA ligase activity	g.chr15:102241290C>T	AL833188	CCDS10394.1	15q26.3	2008-02-05			ENSG00000185418	ENSG00000185418			24728	protein-coding gene	gene with protein product							Standard	NM_152334		Approved	FLJ25005	uc002bxm.3	A2RTX5	OTTHUMG00000149869	ENST00000335968.3:c.1320+1G>A	15.37:g.102241290C>T							p.R440_splice	NM_152334.2	NP_689547.2	A2RTX5	SYTC2_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.000268)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)		10	1535	-	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		440					B2RMP7|Q6B0A1|Q6IS76|Q96LW3|Q96MP4	Splice_Site	SNP	ENST00000335968.3	37	c.1320_splice	CCDS10394.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.099638	0.76983	.	.	ENSG00000185418	ENST00000335968;ENST00000333018;ENST00000539112	T;T	0.71934	-0.61;-0.61	4.81	3.87	0.44632	Aminoacyl-tRNA synthetase, class II (1);Aminoacyl-tRNA synthetase, class II (G/ H/ P/ S), conserved domain (1);	0.196015	0.39909	N	0.001233	T	0.75939	0.3918	H	0.95004	3.61	0.40137	D	0.976789	P	0.46277	0.875	B	0.41332	0.354	T	0.82289	-0.0531	10	0.87932	D	0	-11.9706	7.9062	0.29763	0.0:0.8112:0.0:0.1888	.	440	A2RTX5	SYTC2_HUMAN	Q	440;345;440	ENSP00000338093:R440Q;ENSP00000439899:R440Q	ENSP00000329291:R345Q	R	-	2	0	TARSL2	100058813	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	2.523000	0.45580	2.363000	0.80096	0.655000	0.94253	CGA		0.313	TARSL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313619.3	NM_152334	Missense_Mutation	13	27	0	0	0	1	0	13	27					T	102241290	C	T	102241290	5	4	251	1	0	0	0	0	0	0	1	0	15558	898	31	2	1129	2	TARSL2	15	102241290	Splice_Site	SNP	C	TCGA-HC-A76W-01A-11D-A33T-08		102241290	290102	39	11778											
SCNN1B	6338	broad.mit.edu	37	chr16	23379203	23379205	+	In_Frame_Del	DEL	ACT	ACT	-																															cacgtccatcttctaccctcActatggcaactgttacatct																								rs138004955		TCGA-HC-A76W-01A-11D-A33T-08	TCGA-HC-A76W-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de77175f-808b-4fb9-9413-5e99254a9325	0f5b9970-388e-406b-ba7a-bad4b7724b53	g.chr16:23379203_23379205delACT	ENST00000343070.2	+	5	979_981	c.803_805delACT	c.(802-807)cactat>cat	p.Y269del	SCNN1B_ENST00000307331.5_In_Frame_Del_p.Y314del|SCNN1B_ENST00000568085.1_In_Frame_Del_p.Y269del|SCNN1B_ENST00000568923.1_In_Frame_Del_p.Y242del	NM_000336.2	NP_000327.2	P51168	SCNNB_HUMAN	sodium channel, non-voltage-gated 1, beta subunit	269					excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|multicellular organismal water homeostasis (GO:0050891)|response to stimulus (GO:0050896)|sensory perception of taste (GO:0050909)|sodium ion homeostasis (GO:0055078)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|sodium channel complex (GO:0034706)	ligand-gated sodium channel activity (GO:0015280)|WW domain binding (GO:0050699)			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	32				GBM - Glioblastoma multiforme(48;0.0465)	Amiloride(DB00594)|Triamterene(DB00384)	TTCTACCCTCACTATGGCAACTG	0.537																																						ENST00000343070.2																			0				breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	32						c.(802-807)cat>c		sodium channel, non-voltage-gated 1, beta subunit	Amiloride(DB00594)|Triamterene(DB00384)																																			SO:0001651	inframe_deletion	0				excretion|sensory perception of taste	apical plasma membrane	ligand-gated sodium channel activity|WW domain binding	g.chr16:23379203_23379205delACT	X87159	CCDS10609.1	16p12.2-p12.1	2012-02-28	2012-02-28		ENSG00000168447	ENSG00000168447		"Ion channels / Sodium channel, nonvoltage-gated", "Sodium channels"	10600	protein-coding gene	gene with protein product	"Liddle syndrome"	600760	"sodium channel, nonvoltage-gated 1, beta", "sodium channel, non-voltage-gated 1, beta"				Standard	NM_000336		Approved	ENaCbeta	uc002dln.3	P51168	OTTHUMG00000131608	ENST00000343070.2:c.803_805delACT	16.37:g.23379203_23379205delACT	ENSP00000345751:p.Tyr269del					SCNN1B_ENST00000568923.1_In_Frame_Del_p.HY241del|SCNN1B_ENST00000568085.1_In_Frame_Del_p.HY268del|SCNN1B_ENST00000307331.5_In_Frame_Del_p.HY313del	p.HY268del	NM_000336.2	NP_000327.2	P51168	SCNNB_HUMAN		GBM - Glioblastoma multiforme(48;0.0465)	5	979_981	+			268					C5HTZ2|O60891|Q96KG2|Q9UJ32|Q9UMU5	In_Frame_Del	DEL	ENST00000343070.2	37	c.803_805delACT	CCDS10609.1																																																																																				0.537	SCNN1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254495.2			36	133						36	133	---	---	---	---	-	23379205	ACT	-	23379203	7	5	251	1	0	1	0	1	0	0	0	0	13928	159	6	0	817	0	SCNN1B	16	23379203	In_Frame_Del	DEL	ACT	TCGA-HC-A76W-01A-11D-A33T-08		23379203	66975550	40	11779											
UBB	7314	broad.mit.edu	37	chr17	16285560	16285560	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggataaagaaggcatcccTcccgaccagcagaggctcat	13	5	10	13	1	1	2	1	0	0	2	3	4	3	3	3	3	1	3	3	3	3	1			TCGA-HC-A76W-01A-11D-A33T-08	TCGA-HC-A76W-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de77175f-808b-4fb9-9413-5e99254a9325	0f5b9970-388e-406b-ba7a-bad4b7724b53	g.chr17:16285560T>C	ENST00000395837.1	+	2	520	c.339T>C	c.(337-339)ccT>ccC	p.P113P	UBB_ENST00000578649.1_Intron|UBB_ENST00000535788.1_Intron|UBB_ENST00000395839.1_Silent_p.P113P|UBB_ENST00000302182.3_Silent_p.P113P|RP11-138I1.4_ENST00000583934.1_RNA	NM_001281718.1|NM_001281720.1	NP_001268647.1|NP_001268649.1	P0CG47	UBB_HUMAN	ubiquitin B	113	Ubiquitin-like 2. {ECO:0000255|PROSITE- ProRule:PRU00214}.		GMQIFVKTLTGKTITLEVEPSDTIENVKAKIQDKEGIPPDQ QRLIFAGKQLEDGRTLSDYNIQKESTLHLVLRLRGGMQIFV KTLTGKTITLEVEPSDTIENVKAKIQDKEGIPPDQQRLIFA GKQLEDGRTLSDYNIQKESTLHLVLRLRGGC -> YADLRE DPDRQDHHPGSGAQ (in UBB(+1); loss of polyubiquitination; impairs the ubiquitin-proteasome pathway; refractory to disassembly by DUBs; slow degradation by UCHL3).		activation of MAPK activity (GO:0000187)|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|carbohydrate metabolic process (GO:0005975)|cellular response to hypoxia (GO:0071456)|cytokine-mediated signaling pathway (GO:0019221)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|endosomal transport (GO:0016197)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|intracellular transport of virus (GO:0075733)|ion transmembrane transport (GO:0034220)|JNK cascade (GO:0007254)|membrane organization (GO:0061024)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of type I interferon production (GO:0032480)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of apoptotic process (GO:0043065)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of type I interferon production (GO:0032479)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|stress-activated MAPK cascade (GO:0051403)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|transmembrane transport (GO:0055085)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral protein processing (GO:0019082)|virion assembly (GO:0019068)	cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16				UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)		AAGGCATCCCTCCCGACCAGC	0.557																																					Melanoma(163;1126 3406 34901)	ENST00000302182.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						c.(337-339)ccT>ccC		ubiquitin B							115	112	113					17																	16285560		2203	4300	6503	SO:0001819	synonymous_variant	7314				activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|viral reproduction	cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane	protein binding	g.chr17:16285560T>C		CCDS11177.1	17p12-p11.2	2010-11-25			ENSG00000170315	ENSG00000170315			12463	protein-coding gene	gene with protein product	"polyubiquitin B"	191339				2154095	Standard	NM_018955		Approved	MGC8385, FLJ25987	uc002gpx.3	P0CG47	OTTHUMG00000058987	ENST00000395837.1:c.339T>C	17.37:g.16285560T>C						RP11-138I1.4_ENST00000583934.1_RNA|UBB_ENST00000578649.1_Intron|UBB_ENST00000395837.1_Silent_p.P113P|UBB_ENST00000395839.1_Silent_p.P113P|UBB_ENST00000535788.1_Intron	p.P113P	NM_018955.2	NP_061828.1	P0CG47	UBB_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)	2	731	+			113			Ubiquitin-like 2.		P02248|P02249|P02250|P62988|Q29120|Q6LBL4|Q6LDU5|Q8WYN8|Q91887|Q91888|Q9BWD6|Q9BX98|Q9UEF2|Q9UEG1|Q9UEK8|Q9UPK7	Silent	SNP	ENST00000395837.1	37	c.339T>C	CCDS11177.1																																																																																				0.557	UBB-002	NOVEL	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000130459.1	NM_018955		4	134	0	0	0	1	0	4	134					C	16285560	T	C	16285560	2	2	251	1	0	0	0	0	0	0	0	1	16838	1538	54	4		4	UBB	17	16285560	Silent	SNP	T	TCGA-HC-A76W-01A-11D-A33T-08		16285560	64909650	41	11780											
CACNB1	782	broad.mit.edu	37	chr17	37341091	37341091	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atgggcctcatggaaggcacCacgtcataggggggcacatg	10	6	15	10	1	2	0	2	0	0	0	2	1	2	1	2	6	0	2	2	6	2	1			TCGA-HC-A76W-01A-11D-A33T-08	TCGA-HC-A76W-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de77175f-808b-4fb9-9413-5e99254a9325	0f5b9970-388e-406b-ba7a-bad4b7724b53	g.chr17:37341091C>G	ENST00000394303.3	-	8	882	c.675G>C	c.(673-675)gtG>gtC	p.V225V	CACNB1_ENST00000394310.3_Silent_p.V225V|CACNB1_ENST00000344140.5_Silent_p.V270V|CACNB1_ENST00000582877.1_5'Flank	NM_000723.4	NP_000714.3	Q02641	CACB1_HUMAN	calcium channel, voltage-dependent, beta 1 subunit	225					axon guidance (GO:0007411)|protein targeting to membrane (GO:0006612)|transport (GO:0006810)	sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|voltage-gated calcium channel activity (GO:0005245)			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(1)	16					Dronedarone(DB04855)|Ibutilide(DB00308)|Magnesium Sulfate(DB00653)|Nimodipine(DB00393)|Spironolactone(DB00421)|Verapamil(DB00661)	TGGAAGGCACCACGTCATAGG	0.602																																					Esophageal Squamous(5;100 366 38393 41452 45827)	ENST00000394303.3																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(1)	16						c.(673-675)gtG>gtC		calcium channel, voltage-dependent, beta 1 subunit	Ibutilide(DB00308)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Verapamil(DB00661)						49	43	45					17																	37341091		2203	4300	6503	SO:0001819	synonymous_variant	782				axon guidance	voltage-gated calcium channel complex		g.chr17:37341091C>G		CCDS11334.1, CCDS42311.1, CCDS45665.1	17q21-q22	2013-03-20			ENSG00000067191	ENSG00000067191		"Calcium channel subunits"	1401	protein-coding gene	gene with protein product		114207		CACNLB1		8381767, 8395940	Standard	NM_000723		Approved		uc002hrm.2	Q02641	OTTHUMG00000133217	ENST00000394303.3:c.675G>C	17.37:g.37341091C>G						CACNB1_ENST00000394310.3_Silent_p.V225V|CACNB1_ENST00000344140.5_Silent_p.V270V	p.V225V	NM_000723.4	NP_000714.3	Q02641	CACB1_HUMAN			8	882	-			225					A8K114|O15331|Q02639|Q02640|Q8N3X9|Q9C085|Q9UD79	Silent	SNP	ENST00000394303.3	37	c.675G>C	CCDS42311.1																																																																																				0.602	CACNB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256945.3			5	54	0	0	0	1	0	5	54					G	37341091	C	G	37341091	2	3	251	1	0	0	0	0	0	0	0	1	2552	581	21	5		5	CACNB1	17	37341091	Silent	SNP	C	TCGA-HC-A76W-01A-11D-A33T-08	21055531	37341091	43854119	42	11781											
MYOM1	8736	broad.mit.edu	37	chr18	3094169	3094169	+	Splice_Site	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	taaacagtgtaaaacctaccGggccttcaaaaatttccttc	14	11	5	11	1	1	0	1	0	0	0	3	0	2	0	4	1	3	1	4	1	7	6	rs200808890		TCGA-HC-A76W-01A-11D-A33T-08	TCGA-HC-A76W-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de77175f-808b-4fb9-9413-5e99254a9325	0f5b9970-388e-406b-ba7a-bad4b7724b53	g.chr18:3094169G>C	ENST00000356443.4	-	26	4196	c.3863C>G	c.(3862-3864)cCg>cGg	p.P1288R	MYOM1_ENST00000400569.3_Splice_Site_p.P1288R|RNU7-25P_ENST00000516544.1_RNA|MYOM1_ENST00000261606.7_Splice_Site_p.P1192R	NM_003803.3|NM_019856.1	NP_003794.3|NP_062830.1	P52179	MYOM1_HUMAN	myomesin 1	1288					muscle contraction (GO:0006936)	M band (GO:0031430)|striated muscle myosin thick filament (GO:0005863)	identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|structural constituent of muscle (GO:0008307)	p.P1288R(1)		NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						AAAACCTACCGGGCCTTCAAA	0.408																																						ENST00000356443.4																			1	Substitution - Missense(1)	p.P1288R(1)	prostate(1)	NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						c.e26+1		myomesin 1							72	69	70					18																	3094169		1812	4083	5895	SO:0001630	splice_region_variant	8736					striated muscle myosin thick filament	structural constituent of muscle	g.chr18:3094169G>C	AF185573	CCDS45823.1, CCDS45824.1	18p11.31	2014-09-17	2012-10-17		ENSG00000101605	ENSG00000101605		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	7613	protein-coding gene	gene with protein product	"skelemin"	603508	"myomesin 1 (skelemin) (185kD)", "myomesin 1 (skelemin) 185kDa", "myomesin 1, 185kDa"			9806852	Standard	NM_019856		Approved		uc002klp.3	P52179	OTTHUMG00000178209	ENST00000356443.4:c.3864+1C>G	18.37:g.3094169G>C						MYOM1_ENST00000400569.3_Splice_Site_p.P1288_splice|MYOM1_ENST00000261606.7_Splice_Site_p.P1192_splice	p.P1288_splice	NM_003803.3|NM_019856.1	NP_003794.3|NP_062830.1	P52179	MYOM1_HUMAN			26	4196	-			1288					Q14BD6|Q6H969|Q6ZUU0	Splice_Site	SNP	ENST00000356443.4	37	c.3864_splice	CCDS45824.1	.	.	.	.	.	.	.	.	.	.	G	15.39	2.820808	0.50633	.	.	ENSG00000101605	ENST00000356443;ENST00000400569;ENST00000261606	T;T;T	0.04758	3.56;3.56;3.56	5.55	4.66	0.58398	Immunoglobulin-like fold (1);	0.322273	0.36778	N	0.002410	T	0.06050	0.0157	L	0.42245	1.32	0.44918	D	0.997933	P;P	0.45176	0.852;0.769	B;B	0.42462	0.388;0.173	T	0.51196	-0.8736	10	0.20046	T	0.44	.	12.4283	0.55559	0.0:0.0:0.5401:0.4598	.	1192;1288	P52179-2;P52179	.;MYOM1_HUMAN	R	1288;1288;1192	ENSP00000348821:P1288R;ENSP00000383413:P1288R;ENSP00000261606:P1192R	ENSP00000261606:P1192R	P	-	2	0	MYOM1	3084169	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	2.913000	0.48790	1.534000	0.49203	0.655000	0.94253	CCG		0.408	MYOM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000441037.2	NM_003803	Missense_Mutation	12	29	0	0	0	1	0	12	29					C	3094169	G	C	3094169	5	2	251	1	0	0	0	0	0	0	1	0	10091	1130	39	5	1246	5	MYOM1	18	3094169	Splice_Site	SNP	G	TCGA-HC-A76W-01A-11D-A33T-08		3094169	74983079	43	11782											
CELF4	56853	broad.mit.edu	37	chr18	34853050	34853050	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ccatctgctgcatctgggcgGcagcgaaggcagccatgggg	7	6	16	12	2	2	0	0	0	2	0	2	1	2	0	2	5	4	4	2	5	1	0			TCGA-HC-A76W-01A-11D-A33T-08	TCGA-HC-A76W-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de77175f-808b-4fb9-9413-5e99254a9325	0f5b9970-388e-406b-ba7a-bad4b7724b53	g.chr18:34853050G>C	ENST00000591282.1	-	7	877	c.878C>G	c.(877-879)gCc>gGc	p.A293G	CELF4_ENST00000601019.1_Missense_Mutation_p.A291G|CELF4_ENST00000420428.2_Missense_Mutation_p.A293G|CELF4_ENST00000591287.1_Missense_Mutation_p.A292G|CELF4_ENST00000334919.5_Missense_Mutation_p.A283G|CELF4_ENST00000588597.1_Missense_Mutation_p.A282G|CELF4_ENST00000603232.1_Missense_Mutation_p.A292G|RP11-797E24.3_ENST00000586610.1_RNA|RP11-797E24.3_ENST00000588766.1_RNA|CELF4_ENST00000361795.5_Missense_Mutation_p.A291G|CELF4_ENST00000412753.1_Missense_Mutation_p.A292G			Q9BZC1	CELF4_HUMAN	CUGBP, Elav-like family member 4	293	Ala-rich.|Sufficient for RNA-binding and MSE- dependent splicing activity.				alternative mRNA splicing, via spliceosome (GO:0000380)|embryo development (GO:0009790)|germ cell development (GO:0007281)|mRNA splice site selection (GO:0006376)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of translation (GO:0017148)|positive regulation of mRNA splicing, via spliceosome (GO:0048026)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	BRE binding (GO:0042835)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|translation repressor activity, nucleic acid binding (GO:0000900)			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(18)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	44						CATCTGGGCGGCAGCGAAGGC	0.642																																						ENST00000420428.2																			0				breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(18)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	44						c.(877-879)gCc>gGc		CUGBP, Elav-like family member 4							33	37	35					18																	34853050		2203	4300	6503	SO:0001583	missense	56853				embryo development|germ cell development|regulation of alternative nuclear mRNA splicing, via spliceosome	cytoplasm|nucleus	BRE binding|nucleotide binding|translation repressor activity, nucleic acid binding	g.chr18:34853050G>C	AF248651	CCDS32818.1, CCDS45857.1, CCDS45858.1	18q12	2013-02-12	2010-02-19	2010-02-19				"RNA binding motif (RRM) containing"	14015	protein-coding gene	gene with protein product		612679	"Bruno (Drosophila) -like 4, RNA binding protein", "bruno-like 4, RNA binding protein (Drosophila)"	BRUNOL4		10893231	Standard	NM_020180		Approved		uc002lae.2	Q9BZC1		ENST00000591282.1:c.878C>G	18.37:g.34853050G>C	ENSP00000464794:p.Ala293Gly					CELF4_ENST00000361795.5_Missense_Mutation_p.A291G|CELF4_ENST00000591282.1_Missense_Mutation_p.A293G|CELF4_ENST00000334919.5_Missense_Mutation_p.A283G|CELF4_ENST00000412753.1_Missense_Mutation_p.A292G|CELF4_ENST00000588597.1_Missense_Mutation_p.A282G|CELF4_ENST00000591287.1_Missense_Mutation_p.A292G|CELF4_ENST00000601019.1_Missense_Mutation_p.A291G|CELF4_ENST00000603232.1_Missense_Mutation_p.A292G	p.A293G	NM_020180.3	NP_064565.1	Q9BZC1	CELF4_HUMAN			7	1273	-			293			Ala-rich.|Sufficient for RNA-binding and MSE- dependent splicing activity.		Q59EN7|Q86XB9|Q8N2M6|Q9BQ96|Q9NR84|Q9NR85	Missense_Mutation	SNP	ENST00000591282.1	37	c.878C>G	CCDS32818.1	.	.	.	.	.	.	.	.	.	.	G	31	5.093243	0.94149	.	.	ENSG00000101489	ENST00000361795;ENST00000412753;ENST00000420428;ENST00000334919;ENST00000361683	T;T	0.76578	-0.96;-1.03	5.07	5.07	0.68467	.	0.000000	0.85682	D	0.000000	D	0.89444	0.6717	M	0.88775	2.98	0.80722	D	1	P;B;P;B;B;P	0.44659	0.84;0.016;0.756;0.307;0.008;0.803	P;B;P;P;B;B	0.60173	0.557;0.01;0.87;0.493;0.043;0.313	D	0.90453	0.4440	10	0.59425	D	0.04	-8.8569	18.6382	0.91385	0.0:0.0:1.0:0.0	.	291;282;18;283;292;293	Q9BZC1-3;B4DHA8;A0PK06;Q9BZC1-5;Q9BZC1-2;Q9BZC1	.;.;.;.;.;CELF4_HUMAN	G	293;292;291;283;176	ENSP00000406823:A292G;ENSP00000335631:A283G	ENSP00000335631:A283G	A	-	2	0	CELF4	33107048	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.263000	0.95617	2.645000	0.89757	0.655000	0.94253	GCC		0.642	CELF4-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000440892.1	NM_020180		20	43	0	0	0	1	0	20	43					C	34853050	G	C	34853050	3	2	251	1	0	0	0	0	1	0	0	0	3218	1203	42	5	606	5	CELF4	18	34853050	Missense_Mutation	SNP	G	TCGA-HC-A76W-01A-11D-A33T-08	31758881	34853050	43224198	44	11783											
TJP3	27134	broad.mit.edu	37	chr19	3731956	3731956	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttggcgtcaagctgggcagtCagatcttcatcaagcacatt	10	11	10	10	1	5	1	4	0	1	1	5	1	5	1	0	2	2	3	0	2	2	3			TCGA-HC-A76W-01A-11D-A33T-08	TCGA-HC-A76W-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de77175f-808b-4fb9-9413-5e99254a9325	0f5b9970-388e-406b-ba7a-bad4b7724b53	g.chr19:3731956C>T	ENST00000541714.2	+	6	1099	c.637C>T	c.(637-639)Cag>Tag	p.Q213*	TJP3_ENST00000587686.1_Nonsense_Mutation_p.Q232*|TJP3_ENST00000589378.1_Nonsense_Mutation_p.Q222*|TJP3_ENST00000382008.3_Nonsense_Mutation_p.Q213*|TJP3_ENST00000539908.2_Nonsense_Mutation_p.Q177*|TJP3_ENST00000262968.9_Nonsense_Mutation_p.Q232*	NM_001267560.1	NP_001254489.1	O95049	ZO3_HUMAN	tight junction protein 3	213	PDZ 2. {ECO:0000255|PROSITE- ProRule:PRU00143}.				regulation of G1/S transition of mitotic cell cycle (GO:2000045)	apical plasma membrane (GO:0016324)|nucleus (GO:0005634)|tight junction (GO:0005923)				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	26				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0118)|STAD - Stomach adenocarcinoma(1328;0.18)		GCTGGGCAGTCAGATCTTCAT	0.582																																						ENST00000541714.2																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	26						c.(637-639)Cag>Tag		tight junction protein 3							51	46	47					19																	3731956		2203	4300	6503	SO:0001587	stop_gained	27134					tight junction	protein binding	g.chr19:3731956C>T	AC005954	CCDS32873.1, CCDS32873.2, CCDS59332.1	19p13.3	2012-07-12	2012-07-12			ENSG00000105289			11829	protein-coding gene	gene with protein product	"zona occludens 3"	612689					Standard	NM_001267560		Approved	ZO-3	uc010xhu.3	O95049		ENST00000541714.2:c.637C>T	19.37:g.3731956C>T	ENSP00000439278:p.Gln213*					TJP3_ENST00000382008.3_Nonsense_Mutation_p.Q213*|TJP3_ENST00000589378.1_Nonsense_Mutation_p.Q222*|TJP3_ENST00000587686.1_Nonsense_Mutation_p.Q232*|TJP3_ENST00000262968.9_Nonsense_Mutation_p.Q232*|TJP3_ENST00000539908.2_Nonsense_Mutation_p.Q177*	p.Q213*	NM_001267560.1	NP_001254489.1	O95049	ZO3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0118)|STAD - Stomach adenocarcinoma(1328;0.18)	6	1099	+			213			PDZ 2.		A6NFP3|B3KR73|B3KXZ0|B4E2W6|F5H2X0|F5H4S9|K7EK22|Q32N01	Nonsense_Mutation	SNP	ENST00000541714.2	37	c.637C>T	CCDS32873.2	.	.	.	.	.	.	.	.	.	.	C	36	5.956147	0.97145	.	.	ENSG00000105289	ENST00000541714;ENST00000539908;ENST00000382008;ENST00000262968	.	.	.	4.37	4.37	0.52481	.	0.071955	0.64402	D	0.000019	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.51188	T	0.08	.	16.0665	0.80887	0.0:1.0:0.0:0.0	.	.	.	.	X	213;177;213;232	.	ENSP00000262968:Q232X	Q	+	1	0	TJP3	3682956	1.000000	0.71417	1.000000	0.80357	0.543000	0.35085	7.166000	0.77553	2.257000	0.74773	0.313000	0.20887	CAG		0.582	TJP3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000453434.1			24	61	0	0	0	1	0	24	61					T	3731956	C	T	3731956	4	4	251	1	0	0	0	0	0	1	0	0	15928	827	29	3	712	3	TJP3	19	3731956	Nonsense_Mutation	SNP	C	TCGA-HC-A76W-01A-11D-A33T-08		3731956	55397027	45	11784											
PRKCSH	5589	broad.mit.edu	37	chr19	11559781	11559781	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tctcgcagaaacccaaactcGggggctctcccaccagcctt	9	7	8	17	2	2	1	0	0	2	1	5	1	2	1	4	2	3	2	4	2	2	1			TCGA-HC-A76W-01A-11D-A33T-08	TCGA-HC-A76W-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de77175f-808b-4fb9-9413-5e99254a9325	0f5b9970-388e-406b-ba7a-bad4b7724b53	g.chr19:11559781G>A	ENST00000589838.1	+	14	1318	c.1318G>A	c.(1318-1320)Ggg>Agg	p.G440R	PRKCSH_ENST00000412601.1_Missense_Mutation_p.G437R|PRKCSH_ENST00000592741.1_Missense_Mutation_p.G447R|PRKCSH_ENST00000591462.1_Missense_Mutation_p.G437R|PRKCSH_ENST00000252455.2_Missense_Mutation_p.G440R|PRKCSH_ENST00000587327.1_Missense_Mutation_p.G437R			P14314	GLU2B_HUMAN	protein kinase C substrate 80K-H	440	PRKCSH.				cellular protein metabolic process (GO:0044267)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|liver development (GO:0001889)|N-glycan processing (GO:0006491)|negative regulation of neuron projection development (GO:0010977)|nitrogen compound metabolic process (GO:0006807)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein heterooligomerization (GO:0051291)|protein N-linked glycosylation via asparagine (GO:0018279)|renal system development (GO:0072001)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|intracellular (GO:0005622)	calcium ion binding (GO:0005509)|ion channel binding (GO:0044325)|phosphoprotein binding (GO:0051219)|protein kinase C binding (GO:0005080)|RNA binding (GO:0003723)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|prostate(3)	19						ACCCAAACTCGGGGGCTCTCC	0.647																																						ENST00000252455.2																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|prostate(3)	19						c.(1318-1320)Ggg>Agg		protein kinase C substrate 80K-H							94	102	100					19																	11559781		2203	4300	6503	SO:0001583	missense	5589				innate immune response|intracellular protein kinase cascade|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen	calcium ion binding|protein kinase C binding	g.chr19:11559781G>A		CCDS32911.1, CCDS45977.1, CCDS74286.1	19p13.2	2014-01-30			ENSG00000130175	ENSG00000130175	2.7.11.1	"EF-hand domain containing"	9411	protein-coding gene	gene with protein product		177060	"polycystic liver disease"	G19P1, PCLD, PLD1		12529853	Standard	NM_002743		Approved		uc002mrt.3	P14314	OTTHUMG00000182029	ENST00000589838.1:c.1318G>A	19.37:g.11559781G>A	ENSP00000465461:p.Gly440Arg					PRKCSH_ENST00000591462.1_Missense_Mutation_p.G437R|PRKCSH_ENST00000587327.1_Missense_Mutation_p.G437R|PRKCSH_ENST00000592741.1_Missense_Mutation_p.G447R|PRKCSH_ENST00000589838.1_Missense_Mutation_p.G440R|PRKCSH_ENST00000412601.1_Missense_Mutation_p.G437R	p.G440R	NM_002743.2	NP_002734.2	P14314	GLU2B_HUMAN			15	1654	+			440			PRKCSH.		A8K318|Q96BU9|Q96D06|Q9P0W9	Missense_Mutation	SNP	ENST00000589838.1	37	c.1318G>A	CCDS32911.1	.	.	.	.	.	.	.	.	.	.	G	15.82	2.946255	0.53079	.	.	ENSG00000130175	ENST00000252455;ENST00000412601	T;T	0.78481	-1.18;-1.18	5.23	4.2	0.49525	Mannose-6-phosphate receptor, binding (1);Glucosidase II beta subunit-like (1);	0.000000	0.85682	D	0.000000	D	0.89629	0.6770	M	0.91717	3.235	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;0.999;1.0	D	0.91349	0.5103	10	0.87932	D	0	-36.4627	12.773	0.57432	0.0811:0.0:0.9189:0.0	.	447;447;437;440	E7EQZ9;B4DJQ5;A8K318;P14314	.;.;.;GLU2B_HUMAN	R	440;437	ENSP00000252455:G440R;ENSP00000395616:G437R	ENSP00000252455:G440R	G	+	1	0	PRKCSH	11420781	1.000000	0.71417	0.026000	0.17262	0.003000	0.03518	8.681000	0.91228	1.208000	0.43306	-0.140000	0.14226	GGG		0.647	PRKCSH-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000458817.1			4	132	0	0	0	1	0	4	132					A	11559781	G	A	11559781	3	1	251	1	0	0	0	0	1	0	0	0	12516	1116	39	2	1393	2	PRKCSH	19	11559781	Missense_Mutation	SNP	G	TCGA-HC-A76W-01A-11D-A33T-08	7827825	11559781	47569202	46	11785											
F2RL3	9002	broad.mit.edu	37	chr19	17000463	17000463	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gacagtgacaccctggagctCccggacagctcacgggcact	9	5	12	15	2	1	1	1	1	0	0	2	4	2	3	2	3	2	3	2	3	0	0			TCGA-HC-A76W-01A-11D-A33T-08	TCGA-HC-A76W-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de77175f-808b-4fb9-9413-5e99254a9325	0f5b9970-388e-406b-ba7a-bad4b7724b53	g.chr19:17000463C>T	ENST00000248076.3	+	2	519	c.189C>T	c.(187-189)ctC>ctT	p.L63L	F2RL3_ENST00000599210.1_Missense_Mutation_p.S62F	NM_003950.2	NP_003941.2	Q96RI0	PAR4_HUMAN	coagulation factor II (thrombin) receptor-like 3	63					blood coagulation (GO:0007596)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|platelet activation (GO:0030168)|platelet dense granule organization (GO:0060155)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|response to wounding (GO:0009611)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	thrombin receptor activity (GO:0015057)			cervix(1)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	7						CCCTGGAGCTCCCGGACAGCT	0.687																																						ENST00000599210.1																			0				cervix(1)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	7						c.(184-186)tCc>tTc		coagulation factor II (thrombin) receptor-like 3							39	40	40					19																	17000463		2201	4298	6499	SO:0001819	synonymous_variant	9002				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|platelet activation|positive regulation of release of sequestered calcium ion into cytosol	extracellular region|integral to plasma membrane	thrombin receptor activity	g.chr19:17000463C>T	AF055917	CCDS12350.1	19p12	2012-08-08						"GPCR / Class A : Protease activated receptors"	3540	protein-coding gene	gene with protein product	"proteinase-activated receptor-4"	602779				9618465	Standard	XM_005260139		Approved	PAR4	uc002nfa.3	Q96RI0		ENST00000248076.3:c.189C>T	19.37:g.17000463C>T						F2RL3_ENST00000248076.3_Silent_p.L63L	p.S62F			Q96RI0	PAR4_HUMAN			2	185	+			0					O76067|Q6DK42	Missense_Mutation	SNP	ENST00000248076.3	37	c.185C>T	CCDS12350.1																																																																																				0.687	F2RL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462875.1			5	56	0	0	0	1	0	5	56					T	17000463	C	T	17000463	2	4	251	1	0	0	0	0	0	0	0	1	5346	842	30	3		3	F2RL3	19	17000463	Silent	SNP	C	TCGA-HC-A76W-01A-11D-A33T-08	5440682	17000463	42128520	47	11786											
B3GNT8	593	broad.mit.edu	37	chr19	41932284	41932284	+	IGR	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagacttggctgccaccacCtccaggcagccactgtggga	8	6	13	14	0	0	1	0	0	0	1	1	3	1	2	5	4	2	2	5	4	0	1			TCGA-HC-A76W-01A-11D-A33T-08	TCGA-HC-A76W-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de77175f-808b-4fb9-9413-5e99254a9325	0f5b9970-388e-406b-ba7a-bad4b7724b53	g.chr19:41932284C>T	ENST00000269980.2	+	0	2103				B3GNT8_ENST00000601379.1_5'UTR|CTC-435M10.6_ENST00000598887.1_RNA|B3GNT8_ENST00000321702.2_Missense_Mutation_p.G134S	NM_000709.3|NM_001164783.1	NP_000700.1|NP_001158255.1	P12694	ODBA_HUMAN	branched chain keto acid dehydrogenase E1, alpha polypeptide						branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|response to cAMP (GO:0051591)|response to glucocorticoid (GO:0051384)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)	mitochondrial alpha-ketoglutarate dehydrogenase complex (GO:0005947)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity (GO:0003863)|alpha-ketoacid dehydrogenase activity (GO:0003826)|carboxy-lyase activity (GO:0016831)|metal ion binding (GO:0046872)			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)	10						CTGCCACCACCTCCAGGCAGC	0.632																																						ENST00000321702.2																			0				cervix(1)|kidney(2)|large_intestine(1)|lung(5)|prostate(2)	11						c.(400-402)Ggt>Agt		UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 8							35	36	36					19																	41932284		2201	4297	6498	SO:0001628	intergenic_variant	374907				poly-N-acetyllactosamine biosynthetic process|protein glycosylation	Golgi membrane|integral to membrane	galactosyltransferase activity|protein N-acetylglucosaminyltransferase activity	g.chr19:41932284C>T	J04474	CCDS12581.1	19q13.1-q13.2	2008-07-09	2005-11-29		ENSG00000248098	ENSG00000248098			986	protein-coding gene	gene with protein product	"maple syrup urine disease"	608348	"branched chain keto acid dehydrogenase E1, alpha polypeptide (maple syrup urine disease)", "2-oxoisovalerate dehydrogenase (lipoamide)"	OVD1A			Standard	NM_000709		Approved	MSU	uc002oqq.3	P12694	OTTHUMG00000168128		19.37:g.41932284C>T						B3GNT8_ENST00000601379.1_5'UTR	p.G134S	NM_198540.2	NP_940942.1	Q7Z7M8	B3GN8_HUMAN			3	853	-			134			Poly-Gly.		B4DP47|E7EW46|Q16034|Q16472	Missense_Mutation	SNP	ENST00000269980.2	37	c.400G>A	CCDS12581.1	.	.	.	.	.	.	.	.	.	.	C	7.271	0.607133	0.14002	.	.	ENSG00000177191	ENST00000321702	T	0.33438	1.41	3.5	2.43	0.29744	.	0.593826	0.15848	N	0.241695	T	0.17704	0.0425	L	0.31294	0.92	0.09310	N	1	B	0.22276	0.067	B	0.11329	0.006	T	0.19418	-1.0306	10	0.17832	T	0.49	.	6.2023	0.20583	0.0:0.8524:0.0:0.1476	.	134	Q7Z7M8	B3GN8_HUMAN	S	134	ENSP00000312700:G134S	ENSP00000312700:G134S	G	-	1	0	B3GNT8	46624124	0.004000	0.15560	0.005000	0.12908	0.581000	0.36288	1.138000	0.31491	0.995000	0.38917	0.462000	0.41574	GGT		0.632	BCKDHA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398313.3	NM_000709		5	40	0	0	0	1	0	5	40					T	41932284	C	T	41932284	1	4	251	0	1	0	0	0	0	0	0	0	1263	681	24	3		3	B3GNT8	19	41932284	IGR	SNP	C	TCGA-HC-A76W-01A-11D-A33T-08	24931821	41932284	17196699	48	11787											
IGLON5	402665	broad.mit.edu	37	chr19	51831965	51831965	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tcagccccgaggcccccaggGctcctggccctcctctccgc	3	6	10	22	2	2	0	1	0	1	0	5	1	4	0	8	3	1	1	8	3	0	0			TCGA-HC-A76W-01A-11D-A33T-08	TCGA-HC-A76W-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de77175f-808b-4fb9-9413-5e99254a9325	0f5b9970-388e-406b-ba7a-bad4b7724b53	g.chr19:51831965G>A	ENST00000270642.8	+	8	963	c.963G>A	c.(961-963)ggG>ggA	p.G321G		NM_001101372.1	NP_001094842.1	A6NGN9	IGLO5_HUMAN	IgLON family member 5	321						extracellular region (GO:0005576)				large_intestine(5)|lung(6)|prostate(1)	12						GGCCCCCAGGGCTCCTGGCCC	0.672																																						ENST00000270642.8																			0				large_intestine(5)|lung(6)|prostate(1)	12						c.(961-963)ggG>ggA		IgLON family member 5							14	17	16					19																	51831965		1839	4082	5921	SO:0001819	synonymous_variant	402665					extracellular region		g.chr19:51831965G>A		CCDS46158.1	19q13.33	2013-01-29			ENSG00000142549	ENSG00000142549		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	34550	protein-coding gene	gene with protein product							Standard	NM_001101372		Approved	LOC402665	uc002pwc.2	A6NGN9	OTTHUMG00000154422	ENST00000270642.8:c.963G>A	19.37:g.51831965G>A							p.G321G	NM_001101372.1	NP_001094842.1	A6NGN9	IGLO5_HUMAN			8	963	+			321						Silent	SNP	ENST00000270642.8	37	c.963G>A	CCDS46158.1																																																																																				0.672	IGLON5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335149.1	NM_001101372		4	8	0	0	0	1	0	4	8					A	51831965	G	A	51831965	2	1	251	1	0	0	0	0	0	0	0	1	7595	1190	42	3		3	IGLON5	19	51831965	Silent	SNP	G	TCGA-HC-A76W-01A-11D-A33T-08	9899681	51831965	7297018	49	11788											
ZFP28	140612	broad.mit.edu	37	chr19	57065632	57065632	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acagaacacatcccttatccGtcactggagatactatcata	14	10	5	12	1	2	2	2	0	0	2	4	3	4	2	2	1	2	0	2	1	5	4			TCGA-HC-A76W-01A-11D-A33T-08	TCGA-HC-A76W-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de77175f-808b-4fb9-9413-5e99254a9325	0f5b9970-388e-406b-ba7a-bad4b7724b53	g.chr19:57065632G>A	ENST00000301318.3	+	8	1549	c.1478G>A	c.(1477-1479)cGt>cAt	p.R493H	AC007228.11_ENST00000596587.1_RNA	NM_020828.1	NP_065879.1	Q8NHY6	ZFP28_HUMAN	ZFP28 zinc finger protein	493					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(2)|kidney(1)|large_intestine(14)|lung(6)|ovary(1)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	35		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0302)		TCCCTTATCCGTCACTGGAGA	0.473																																					Ovarian(124;554 1662 19430 21141 52494)	ENST00000301318.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(14)|lung(6)|ovary(1)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	35						c.(1477-1479)cGt>cAt		ZFP28 zinc finger protein							115	91	99					19																	57065632		2203	4300	6503	SO:0001583	missense	140612				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57065632G>A		CCDS12946.1	19q13.43	2013-01-08	2012-11-27			ENSG00000196867		"Zinc fingers, C2H2-type", "-"	17801	protein-coding gene	gene with protein product			"zinc finger protein 28 homolog (mouse)"				Standard	NM_020828		Approved	KIAA1431, mkr5	uc002qnj.3	Q8NHY6		ENST00000301318.3:c.1478G>A	19.37:g.57065632G>A	ENSP00000301318:p.Arg493His					AC007228.11_ENST00000596587.1_RNA	p.R493H	NM_020828.1	NP_065879.1	Q8NHY6	ZFP28_HUMAN		GBM - Glioblastoma multiforme(193;0.0302)	8	1549	+		Colorectal(82;0.000256)|Ovarian(87;0.243)	493					A0JNV6|K7ES88|Q8NHU8|Q9BY30|Q9P2B6	Missense_Mutation	SNP	ENST00000301318.3	37	c.1478G>A	CCDS12946.1	.	.	.	.	.	.	.	.	.	.	G	13.81	2.349387	0.41599	.	.	ENSG00000196867	ENST00000301318	T	0.26810	1.71	4.4	3.28	0.37604	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.46145	D	0.000306	T	0.41880	0.1178	L	0.53617	1.68	0.09310	N	1	D	0.89917	1.0	D	0.71414	0.973	T	0.07888	-1.0749	10	0.41790	T	0.15	.	12.6012	0.56499	0.0:0.2671:0.7329:0.0	.	493	Q8NHY6	ZFP28_HUMAN	H	493	ENSP00000301318:R493H	ENSP00000301318:R493H	R	+	2	0	ZFP28	61757444	0.000000	0.05858	0.763000	0.31416	0.979000	0.70002	-0.169000	0.09911	2.438000	0.82558	0.650000	0.86243	CGT		0.473	ZFP28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458409.1	NM_020828		3	67	0	0	0	1	0	3	67					A	57065632	G	A	57065632	3	1	251	1	0	0	0	0	1	0	0	0	17639	1145	40	1	1508	1	ZFP28	19	57065632	Missense_Mutation	SNP	G	TCGA-HC-A76W-01A-11D-A33T-08	5233667	57065632	2063351	50	11789											
C20orf114	92747	broad.mit.edu	37	chr20	31889127	31889127	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcccaccctggacaacatccCgttcagcctcatcgtgagtc	8	8	8	17	2	2	1	2	1	0	0	5	2	3	2	4	1	2	1	4	1	1	1			TCGA-HC-A76W-01A-11D-A33T-08	TCGA-HC-A76W-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de77175f-808b-4fb9-9413-5e99254a9325	0f5b9970-388e-406b-ba7a-bad4b7724b53	g.chr20:31889127C>T	ENST00000253354.1	+	9	997	c.836C>T	c.(835-837)cCg>cTg	p.P279L	BPIFB1_ENST00000464032.1_3'UTR	NM_033197.2	NP_149974.2	Q8TDL5	BPIB1_HUMAN	BPI fold containing family B, member 1	279					innate immune response in mucosa (GO:0002227)|negative regulation of toll-like receptor 4 signaling pathway (GO:0034144)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	lipid binding (GO:0008289)										GACAACATCCCGTTCAGCCTC	0.532																																						ENST00000253354.1																			0											c.(835-837)cCg>cTg		BPI fold containing family B, member 1							161	127	139					20																	31889127		2203	4300	6503	SO:0001583	missense	92747					extracellular space	lipid binding	g.chr20:31889127C>T	BC008429	CCDS13218.1	20q11.21	2011-08-04	2011-07-29	2011-07-29	ENSG00000125999	ENSG00000125999		"BPI fold containing"	16108	protein-coding gene	gene with protein product	"von Ebner minor salivary gland protein"		"chromosome 20 open reading frame 114"	C20orf114		11971875, 21787333	Standard	NM_033197		Approved	dJ1187J4.1, MGC14597, bA49G10.6, LPLUNC1, VEMSGP	uc002wyw.1	Q8TDL5	OTTHUMG00000032252	ENST00000253354.1:c.836C>T	20.37:g.31889127C>T	ENSP00000253354:p.Pro279Leu					BPIFB1_ENST00000464032.1_3'UTR	p.P279L	NM_033197.2	NP_149974.2	Q8TDL5	LPLC1_HUMAN			9	997	+			279					A8K2H8|Q5QP43|Q6UWY1|Q6ZRU7|Q96HK6|Q9BQP8|Q9BWZ6|Q9H4V6	Missense_Mutation	SNP	ENST00000253354.1	37	c.836C>T	CCDS13218.1	.	.	.	.	.	.	.	.	.	.	C	12.28	1.890835	0.33348	.	.	ENSG00000125999	ENST00000253354;ENST00000375378	T	0.06608	3.28	5.24	0.853	0.19001	.	0.325367	0.26411	N	0.024539	T	0.04724	0.0128	M	0.62723	1.935	0.09310	N	1	D	0.53462	0.96	B	0.37198	0.243	T	0.39057	-0.9632	10	0.17369	T	0.5	-6.3736	3.3751	0.07234	0.3066:0.4604:0.1487:0.0843	.	279	Q8TDL5	BPIB1_HUMAN	L	279;110	ENSP00000253354:P279L	ENSP00000253354:P279L	P	+	2	0	BPIFB1	31352788	0.000000	0.05858	0.002000	0.10522	0.001000	0.01503	-0.098000	0.11024	0.353000	0.24079	-0.270000	0.10280	CCG		0.532	BPIFB1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106499.2	NM_033197		29	65	0	0	0	1	0	29	65					T	31889127	C	T	31889127	3	4	251	1	0	0	0	0	1	0	0	0	2082	652	23	2	866	2	C20orf114	20	31889127	Missense_Mutation	SNP	C	TCGA-HC-A76W-01A-11D-A33T-08		31889127	31136393	51	11790											
SLC2A10	81031	broad.mit.edu	37	chr20	45354070	45354070	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gctggtggggccacggcagcGgggagtgctggtgtccctct	3	8	19	11	2	1	0	0	0	1	0	2	1	2	1	2	7	2	3	2	7	0	0	rs376346077		TCGA-HC-A76W-01A-11D-A33T-08	TCGA-HC-A76W-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de77175f-808b-4fb9-9413-5e99254a9325	0f5b9970-388e-406b-ba7a-bad4b7724b53	g.chr20:45354070G>A	ENST00000359271.2	+	2	645	c.395G>A	c.(394-396)cGg>cAg	p.R132Q		NM_030777.3	NP_110404.1	O95528	GTR10_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 10	132			R -> W (in ATS). {ECO:0000269|PubMed:17935213}.		glucose transport (GO:0015758)|proton transport (GO:0015992)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sugar:proton symporter activity (GO:0005351)			central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|liver(2)|lung(13)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	34		Myeloproliferative disorder(115;0.0122)				CCACGGCAGCGGGGAGTGCTG	0.637													G|||	1	0.000199681	0	0	5008	,	,		20918	0		0	False		,,,				2504	0.001					ENST00000359271.2																			0				central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|liver(2)|lung(13)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	34						c.(394-396)cGg>cAg		solute carrier family 2 (facilitated glucose transporter), member 10		G	GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	89	85	86		395	5.3	1	20		86	1,8599	1.2+/-3.3	0,1,4299	no	missense	SLC2A10	NM_030777.3	43	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	probably-damaging	132/542	45354070	2,13004	2203	4300	6503	SO:0001583	missense	81031					endomembrane system|integral to membrane|perinuclear region of cytoplasm|plasma membrane	D-glucose transmembrane transporter activity|sugar:hydrogen symporter activity	g.chr20:45354070G>A	AL137188	CCDS13402.1	20q13.12	2013-05-22			ENSG00000197496	ENSG00000197496		"Solute carriers"	13444	protein-coding gene	gene with protein product		606145				11247674	Standard	NM_030777		Approved	GLUT10	uc002xsl.3	O95528	OTTHUMG00000032657	ENST00000359271.2:c.395G>A	20.37:g.45354070G>A	ENSP00000352216:p.Arg132Gln						p.R132Q	NM_030777.3	NP_110404.1	O95528	GTR10_HUMAN			2	645	+		Myeloproliferative disorder(115;0.0122)	132		R -> W (in ATS).			A8K4J6|Q3MIX5|Q9H4I6	Missense_Mutation	SNP	ENST00000359271.2	37	c.395G>A	CCDS13402.1	.	.	.	.	.	.	.	.	.	.	G	25.3	4.622559	0.87460	2.27E-4	1.16E-4	ENSG00000197496	ENST00000359271	D	0.81996	-1.56	5.31	5.31	0.75309	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	D	0.95252	0.8460	H	0.98996	4.395	0.58432	D	0.999999	D	0.89917	1.0	D	0.76575	0.988	D	0.97314	0.9939	10	0.87932	D	0	.	18.9831	0.92762	0.0:0.0:1.0:0.0	.	132	O95528	GTR10_HUMAN	Q	132	ENSP00000352216:R132Q	ENSP00000352216:R132Q	R	+	2	0	SLC2A10	44787477	1.000000	0.71417	1.000000	0.80357	0.473000	0.32948	9.852000	0.99516	2.494000	0.84150	0.407000	0.27541	CGG		0.637	SLC2A10-001	KNOWN	mRNA_end_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079578.2			10	75	0	0	0	1	0	10	75					A	45354070	G	A	45354070	3	1	251	1	0	0	0	0	1	0	0	0	14539	1116	39	2	401	2	SLC2A10	20	45354070	Missense_Mutation	SNP	G	TCGA-HC-A76W-01A-11D-A33T-08	13464943	45354070	17671450	52	11791											
ZMYND8	23613	broad.mit.edu	37	chr20	45853081	45853081	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcctccttcttgcagttggCgcaccactgcttcttcttgg	3	14	10	14	1	3	0	0	0	3	0	4	0	4	0	3	3	2	4	3	3	0	6			TCGA-HC-A76W-01A-11D-A33T-08	TCGA-HC-A76W-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de77175f-808b-4fb9-9413-5e99254a9325	0f5b9970-388e-406b-ba7a-bad4b7724b53	g.chr20:45853081C>T	ENST00000311275.7	-	19	3338	c.3085G>A	c.(3085-3087)Gcc>Acc	p.A1029T	ZMYND8_ENST00000540497.1_Missense_Mutation_p.A977T|ZMYND8_ENST00000355972.4_Missense_Mutation_p.A1029T|ZMYND8_ENST00000352431.2_Missense_Mutation_p.A1003T|ZMYND8_ENST00000458360.2_Missense_Mutation_p.A897T|ZMYND8_ENST00000396281.4_Missense_Mutation_p.A1029T|ZMYND8_ENST00000372023.3_Missense_Mutation_p.A951T|ZMYND8_ENST00000360911.3_Missense_Mutation_p.A978T|ZMYND8_ENST00000262975.4_Missense_Mutation_p.A983T|ZMYND8_ENST00000536340.1_Missense_Mutation_p.A1056T|ZMYND8_ENST00000446994.2_Missense_Mutation_p.A920T|ZMYND8_ENST00000461685.1_Missense_Mutation_p.A1003T|ZMYND8_ENST00000471951.2_Missense_Mutation_p.A1049T	NM_001281772.1|NM_001281778.1|NM_001281783.1	NP_001268701.1|NP_001268707.1|NP_001268712.1	Q9ULU4	PKCB1_HUMAN	zinc finger, MYND-type containing 8	1029					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	nucleus (GO:0005634)	repressing transcription factor binding (GO:0070491)|RNA polymerase II transcription corepressor activity (GO:0001106)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|prostate(3)|skin(2)|urinary_tract(8)	62			Epithelial(1;0.0289)|all cancers(1;0.0962)|OV - Ovarian serous cystadenocarcinoma(1;0.154)			TTGCAGTTGGCGCACCACTGC	0.582																																						ENST00000311275.7																			0				NS(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|prostate(3)|skin(2)|urinary_tract(8)	62						c.(3085-3087)Gcc>Acc		zinc finger, MYND-type containing 8							256	202	220					20																	45853081		2203	4300	6503	SO:0001583	missense	23613						protein binding|zinc ion binding	g.chr20:45853081C>T	U48251	CCDS13404.1, CCDS13405.1, CCDS46613.1, CCDS63300.1, CCDS63301.1, CCDS63304.1, CCDS63306.1, CCDS74738.1	20q13.12	2013-01-28	2007-01-29	2007-01-29	ENSG00000101040	ENSG00000101040		"Zinc fingers, MYND-type", "Zinc fingers, PHD-type"	9397	protein-coding gene	gene with protein product		615713	"protein kinase C binding protein 1"	PRKCBP1			Standard	NM_001281769		Approved	RACK7	uc002xtb.1	Q9ULU4	OTTHUMG00000032667	ENST00000311275.7:c.3085G>A	20.37:g.45853081C>T	ENSP00000312237:p.Ala1029Thr					ZMYND8_ENST00000540497.1_Missense_Mutation_p.A977T|ZMYND8_ENST00000360911.3_Missense_Mutation_p.A978T|ZMYND8_ENST00000536340.1_Missense_Mutation_p.A1056T|ZMYND8_ENST00000262975.4_Missense_Mutation_p.A983T|ZMYND8_ENST00000461685.1_Missense_Mutation_p.A1003T|ZMYND8_ENST00000458360.2_Missense_Mutation_p.A897T|ZMYND8_ENST00000355972.4_Missense_Mutation_p.A1029T|ZMYND8_ENST00000372023.3_Missense_Mutation_p.A951T|ZMYND8_ENST00000352431.2_Missense_Mutation_p.A1003T|ZMYND8_ENST00000396281.4_Missense_Mutation_p.A1029T|ZMYND8_ENST00000446994.2_Missense_Mutation_p.A920T|ZMYND8_ENST00000471951.2_Missense_Mutation_p.A1049T	p.A1029T			Q9ULU4	PKCB1_HUMAN	Epithelial(1;0.0289)|all cancers(1;0.0962)|OV - Ovarian serous cystadenocarcinoma(1;0.154)		19	3338	-			1029					B3KVL2|B7Z2A8|B7Z3E0|B7Z680|B7ZM62|E1P5U5|F5H0X3|H7C0U2|J3KPU3|Q13517|Q2HXV1|Q2HXV2|Q2HXV3|Q2HXV4|Q2HXV7|Q2HXV8|Q2HXV9|Q2HXW0|Q2HXW1|Q2HXW2|Q4JJ94|Q4JJ95|Q5TH09|Q5TH11|Q6MZM1|Q8WXC5|Q9H1F3|Q9H1F4|Q9H1F5|Q9H1L8|Q9H1L9|Q9H2G5|Q9NYN3|Q9UIX6	Missense_Mutation	SNP	ENST00000311275.7	37	c.3085G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	25.2|25.2	4.613590|4.613590	0.87359|0.87359	.|.	.|.	ENSG00000101040|ENSG00000101040	ENST00000360911;ENST00000311275;ENST00000458360;ENST00000262975;ENST00000471951;ENST00000352431;ENST00000396281;ENST00000536340;ENST00000355972;ENST00000446994;ENST00000461685;ENST00000372023;ENST00000540497|ENST00000467200	T;T;T;T;T;T;T;T;T;T;T|.	0.55052|.	0.54;0.54;0.54;0.54;0.54;0.54;0.54;0.54;0.54;0.54;0.54|.	5.45|5.45	4.5|4.5	0.54988|0.54988	Zinc finger, MYND-type (3);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.79724|0.79724	0.4495|0.4495	M|M	0.86953|0.86953	2.85|2.85	0.58432|0.58432	D|D	0.999996|0.999996	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D|.	0.89917|.	0.963;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;0.99;1.0;1.0;1.0|.	P;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D|.	0.97110|.	0.629;0.999;1.0;0.999;0.999;0.999;0.998;0.998;0.999;1.0;1.0;1.0;0.918;0.993;0.999;1.0|.	T|T	0.83058|0.83058	-0.0149|-0.0149	10|5	0.87932|.	D|.	0|.	-15.2878|-15.2878	16.2118|16.2118	0.82165|0.82165	0.0:0.8667:0.1333:0.0|0.0:0.8667:0.1333:0.0	.|.	897;1056;951;958;1049;983;978;1003;1003;1029;920;978;977;922;931;1029|.	B7ZM62;F5H0X3;Q2HXV3;Q5TH11;Q9ULU4-7;Q9ULU4-9;Q9ULU4-14;Q9ULU4-12;Q9ULU4-13;Q9ULU4;B3KVL2;Q2HXV9;Q2HXV1;Q9ULU4-8;Q2HXV4;B7Z2A8|.	.;.;.;.;.;.;.;.;.;PKCB1_HUMAN;.;.;.;.;.;.|.	T|H	978;1029;897;984;1050;1003;1029;1056;1029;920;1003;951;977|910	ENSP00000354166:A978T;ENSP00000312237:A1029T;ENSP00000392964:A897T;ENSP00000335537:A1003T;ENSP00000379577:A1029T;ENSP00000439800:A1056T;ENSP00000348246:A1029T;ENSP00000396725:A920T;ENSP00000418210:A1003T;ENSP00000361093:A951T;ENSP00000443086:A977T|.	ENSP00000262975:A984T|.	A|R	-|-	1|2	0|0	ZMYND8|ZMYND8	45286488|45286488	1.000000|1.000000	0.71417|0.71417	0.913000|0.913000	0.36048|0.36048	0.891000|0.891000	0.51852|0.51852	7.767000|7.767000	0.85331|0.85331	1.274000|1.274000	0.44362|0.44362	-0.175000|-0.175000	0.13238|0.13238	GCC|CGC		0.582	ZMYND8-007	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000079596.2	NM_183047		4	156	0	0	0	1	0	4	156					T	45853081	C	T	45853081	3	4	251	1	0	0	0	0	1	0	0	0	17708	768	27	1	579	1	ZMYND8	20	45853081	Missense_Mutation	SNP	C	TCGA-HC-A76W-01A-11D-A33T-08	499011	45853081	17172439	53	11792											
ACE2	59272	broad.mit.edu	37	chrX	15605910	15605910	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gggaggcatccaattggactGatataggaaggataggcatt	13	9	14	5	0	0	1	0	1	0	0	1	5	1	5	1	6	0	2	1	6	5	5	rs377035576		TCGA-HC-A76W-01A-11D-A33T-08	TCGA-HC-A76W-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de77175f-808b-4fb9-9413-5e99254a9325	0f5b9970-388e-406b-ba7a-bad4b7724b53	g.chrX:15605910G>C	ENST00000252519.3	-	6	870	c.768C>G	c.(766-768)atC>atG	p.I256M	ACE2_ENST00000427411.1_Missense_Mutation_p.I256M			Q9BYF1	ACE2_HUMAN	angiotensin I converting enzyme 2	256					angiotensin catabolic process in blood (GO:0002005)|angiotensin maturation (GO:0002003)|angiotensin-mediated drinking behavior (GO:0003051)|cellular protein metabolic process (GO:0044267)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|receptor biosynthetic process (GO:0032800)|receptor-mediated virion attachment to host cell (GO:0046813)|regulation of cell proliferation (GO:0042127)|regulation of cytokine production (GO:0001817)|regulation of inflammatory response (GO:0050727)|regulation of systemic arterial blood pressure by renin-angiotensin (GO:0003081)|regulation of vasoconstriction (GO:0019229)|regulation of vasodilation (GO:0042312)|response to virus (GO:0009615)|viral entry into host cell (GO:0046718)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	carboxypeptidase activity (GO:0004180)|endopeptidase activity (GO:0004175)|glycoprotein binding (GO:0001948)|peptide hormone binding (GO:0017046)|virus receptor activity (GO:0001618)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	32	Hepatocellular(33;0.183)				Lisinopril(DB00722)|Moexipril(DB00691)	CAATTGGACTGATATAGGAAG	0.388																																						ENST00000427411.1																			0				endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	32						c.(766-768)atC>atG		angiotensin I converting enzyme 2	Moexipril(DB00691)						155	137	143					X																	15605910		2203	4300	6503	SO:0001583	missense	59272				angiotensin-mediated drinking behavior|proteolysis|receptor biosynthetic process|regulation of cell proliferation|virion attachment, binding of host cell surface receptor	cell surface|extracellular space|integral to membrane|membrane raft|plasma membrane	carboxypeptidase activity|glycoprotein binding|metallopeptidase activity|peptidyl-dipeptidase activity|viral receptor activity|zinc ion binding	g.chrX:15605910G>C	AF291820	CCDS14169.1	Xp22	2013-06-12	2013-06-12		ENSG00000130234	ENSG00000130234	3.4.17.23		13557	protein-coding gene	gene with protein product	"peptidyl-dipeptidase A"	300335	"angiotensin I converting enzyme (peptidyl-dipeptidase A) 2"			10969042	Standard	NM_021804		Approved		uc004cxb.2	Q9BYF1	OTTHUMG00000021177	ENST00000252519.3:c.768C>G	X.37:g.15605910G>C	ENSP00000252519:p.Ile256Met					ACE2_ENST00000252519.3_Missense_Mutation_p.I256M	p.I256M	NM_021804.2	NP_068576.1	Q9BYF1	ACE2_HUMAN			7	984	-	Hepatocellular(33;0.183)		256					C7ECU1|Q6UWP0|Q86WT0|Q9NRA7|Q9UFZ6	Missense_Mutation	SNP	ENST00000252519.3	37	c.768C>G	CCDS14169.1	.	.	.	.	.	.	.	.	.	.	g	6.081	0.383229	0.11524	.	.	ENSG00000130234	ENST00000252519;ENST00000427411	T;T	0.41758	0.99;0.99	5.68	2.91	0.33838	.	0.213099	0.48286	N	0.000190	T	0.53012	0.1770	M	0.73319	2.225	0.25831	N	0.984166	B	0.32862	0.387	P	0.47102	0.537	T	0.53114	-0.8484	10	0.72032	D	0.01	-11.1438	10.1516	0.42796	0.1416:0.115:0.7435:0.0	.	256	Q9BYF1	ACE2_HUMAN	M	256	ENSP00000252519:I256M;ENSP00000389326:I256M	ENSP00000252519:I256M	I	-	3	3	ACE2	15515831	1.000000	0.71417	0.026000	0.17262	0.004000	0.04260	1.650000	0.37292	0.179000	0.19938	-1.029000	0.02412	ATC		0.388	ACE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055867.1			35	19	0	0	0	1	0	35	19					C	15605910	G	C	15605910	3	2	251	1	0	0	0	0	1	0	0	0	137	1280	45	5	1701	5	ACE2	23	15605910	Missense_Mutation	SNP	G	TCGA-HC-A76W-01A-11D-A33T-08		15605910	139664650	54	11793											
MAGEB6	158809	broad.mit.edu	37	chrX	26212572	26212572	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aagaaggcgtgcacgttggcGcaattcctgcagaagaagtt	12	8	13	8	3	0	3	0	0	0	3	1	3	1	3	1	2	2	5	1	2	5	3			TCGA-HC-A76W-01A-11D-A33T-08	TCGA-HC-A76W-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de77175f-808b-4fb9-9413-5e99254a9325	0f5b9970-388e-406b-ba7a-bad4b7724b53	g.chrX:26212572G>A	ENST00000379034.1	+	2	758	c.609G>A	c.(607-609)gcG>gcA	p.A203A		NM_173523.2	NP_775794.2	Q8N7X4	MAGB6_HUMAN	melanoma antigen family B, 6	203	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.							p.A203A(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(18)|ovary(3)|prostate(2)	33						GCACGTTGGCGCAATTCCTGC	0.478																																						ENST00000379034.1																			1	Substitution - coding silent(1)	p.A203A(1)	prostate(1)	breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(18)|ovary(3)|prostate(2)	33						c.(607-609)gcG>gcA		melanoma antigen family B, 6							85	72	76					X																	26212572		2202	4300	6502	SO:0001819	synonymous_variant	158809							g.chrX:26212572G>A	AF320514	CCDS14217.1	Xp22.12	2009-03-17			ENSG00000176746	ENSG00000176746			23796	protein-coding gene	gene with protein product	"cancer/testis antigen family 3, member 4"	300467				10861452	Standard	NM_173523		Approved	FLJ40242, MAGE-B6, MAGEB6A, CT3.4	uc004dbr.3	Q8N7X4	OTTHUMG00000021285	ENST00000379034.1:c.609G>A	X.37:g.26212572G>A							p.A203A	NM_173523.2	NP_775794.2	Q8N7X4	MAGB6_HUMAN			2	758	+			203			MAGE.		Q6GS19|Q9H219	Silent	SNP	ENST00000379034.1	37	c.609G>A	CCDS14217.1																																																																																				0.478	MAGEB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056123.1	NM_173523		44	17	0	0	0	1	0	44	17					A	26212572	G	A	26212572	2	1	251	1	0	0	0	0	0	0	0	1	9179	1074	38	1		1	MAGEB6	23	26212572	Silent	SNP	G	TCGA-HC-A76W-01A-11D-A33T-08	10606662	26212572	129057988	55	11794											
ZMYM3	9203	broad.mit.edu	37	chrX	70462905	70462905	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tagtaaaggtccgtgaaaatGttcaccatccggttattttc	11	14	8	8	2	1	1	1	1	0	0	4	1	3	1	3	2	0	3	3	2	6	6			TCGA-HC-A76W-01A-11D-A33T-08	TCGA-HC-A76W-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de77175f-808b-4fb9-9413-5e99254a9325	0f5b9970-388e-406b-ba7a-bad4b7724b53	g.chrX:70462905G>C	ENST00000353904.2	-	22	3649	c.3462C>G	c.(3460-3462)aaC>aaG	p.N1154K	ZMYM3_ENST00000373988.1_Missense_Mutation_p.N1156K|ZMYM3_ENST00000373984.3_Missense_Mutation_p.N1149K|ZMYM3_ENST00000489332.1_5'UTR|ZMYM3_ENST00000314425.5_Missense_Mutation_p.N1154K|ZMYM3_ENST00000373998.1_Missense_Mutation_p.N1142K	NM_005096.3	NP_005087.1	Q14202	ZMYM3_HUMAN	zinc finger, MYM-type 3	1154					cytoskeleton organization (GO:0007010)|multicellular organismal development (GO:0007275)|regulation of cell morphogenesis (GO:0022604)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(7)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(17)|ovary(1)|prostate(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(35;0.156)					CCGTGAAAATGTTCACCATCC	0.458																																						ENST00000373998.1																			0				breast(1)|central_nervous_system(7)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(17)|ovary(1)|prostate(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						c.(3424-3426)aaC>aaG		zinc finger, MYM-type 3							143	117	126					X																	70462905		2203	4300	6503	SO:0001583	missense	9203				multicellular organismal development	nucleus	DNA binding|zinc ion binding	g.chrX:70462905G>C	AB002383	CCDS14409.1, CCDS55443.1, CCDS55444.1	Xq13.1	2013-01-08	2005-12-19	2005-12-19	ENSG00000147130	ENSG00000147130		"Zinc fingers, MYM type"	13054	protein-coding gene	gene with protein product		300061	"zinc finger protein 261"	ZNF261		10486218	Standard	NM_201599		Approved	ZNF198L2, DXS6673E, KIAA0385, MYM	uc004dzh.2	Q14202	OTTHUMG00000021799	ENST00000353904.2:c.3462C>G	X.37:g.70462905G>C	ENSP00000343909:p.Asn1154Lys					ZMYM3_ENST00000353904.2_Missense_Mutation_p.N1154K|ZMYM3_ENST00000373988.1_Missense_Mutation_p.N1156K|ZMYM3_ENST00000489332.1_5'UTR|ZMYM3_ENST00000314425.5_Missense_Mutation_p.N1154K|ZMYM3_ENST00000373984.3_Missense_Mutation_p.N1149K	p.N1142K	NM_001171162.1	NP_001164633.1	Q14202	ZMYM3_HUMAN			22	4123	-	Renal(35;0.156)		1154					D3DVV3|O15089|Q96E26	Missense_Mutation	SNP	ENST00000353904.2	37	c.3426C>G	CCDS14409.1	.	.	.	.	.	.	.	.	.	.	g	17.52	3.411219	0.62399	.	.	ENSG00000147130	ENST00000314425;ENST00000373998;ENST00000353904;ENST00000373984;ENST00000373988	T;T;T;T;T	0.54279	1.18;0.58;1.18;1.01;1.19	4.56	2.8	0.32819	.	0.148283	0.45867	D	0.000334	T	0.61035	0.2315	L	0.49126	1.545	0.41592	D	0.988809	D;D	0.69078	0.997;0.995	D;D	0.70716	0.97;0.933	T	0.59810	-0.7384	10	0.72032	D	0.01	-16.1639	7.1681	0.25702	0.3957:0.0:0.6043:0.0	.	1142;1154	Q14202-2;Q14202	.;ZMYM3_HUMAN	K	1154;1142;1154;1149;1156	ENSP00000322845:N1154K;ENSP00000363110:N1142K;ENSP00000343909:N1154K;ENSP00000363096:N1149K;ENSP00000363100:N1156K	ENSP00000322845:N1154K	N	-	3	2	ZMYM3	70379630	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	2.053000	0.41326	0.387000	0.25024	-0.210000	0.12710	AAC		0.458	ZMYM3-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000057154.1	NM_201599		15	14	0	0	0	1	0	15	14					C	70462905	G	C	70462905	3	2	251	1	0	0	0	0	1	0	0	0	17698	1368	48	5	666	5	ZMYM3	23	70462905	Missense_Mutation	SNP	G	TCGA-HC-A76W-01A-11D-A33T-08	44250333	70462905	84807655	56	11795											
TSPAN6	7105	broad.mit.edu	37	chrX	99890723	99890723	+	Frame_Shift_Del	DEL	A	A	-																															ttgccccaaatgccaactgcAagaaggataacgccagtgat																										TCGA-HC-A76W-01A-11D-A33T-08	TCGA-HC-A76W-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de77175f-808b-4fb9-9413-5e99254a9325	0f5b9970-388e-406b-ba7a-bad4b7724b53	g.chrX:99890723delA	ENST00000373020.4	-	2	219	c.108delT	c.(106-108)cttfs	p.L36fs	TSPAN6_ENST00000496771.1_5'UTR	NM_001278740.1|NM_001278741.1|NM_003270.2	NP_001265669.1|NP_001265670.1|NP_003261.1	O43657	TSN6_HUMAN	tetraspanin 6	36					negative regulation of NIK/NF-kappaB signaling (GO:1901223)|negative regulation of viral-induced cytoplasmic pattern recognition receptor signaling pathway (GO:0039532)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	signal transducer activity (GO:0004871)			endometrium(2)|kidney(3)|large_intestine(6)|ovary(1)	12						TGCCAACTGCAAGAAGGATAA	0.448																																						ENST00000373020.4																			0				endometrium(2)|kidney(3)|large_intestine(6)|ovary(1)	12						c.(106-108)ctfs		tetraspanin 6							43	33	36					X																	99890723		2202	4292	6494	SO:0001589	frameshift_variant	7105				positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to membrane	signal transducer activity	g.chrX:99890723delA	AF043906	CCDS14470.1, CCDS76001.1	Xq22	2013-02-14	2005-03-21	2005-03-21	ENSG00000000003	ENSG00000000003		"Tetraspanins"	11858	protein-coding gene	gene with protein product		300191	"transmembrane 4 superfamily member 6"	TM4SF6		9782095	Standard	NM_003270		Approved	T245, TSPAN-6	uc004ega.1	O43657	OTTHUMG00000022002	ENST00000373020.4:c.108delT	X.37:g.99890723delA	ENSP00000362111:p.Leu36fs					TSPAN6_ENST00000496771.1_5'UTR	p.L36fs	NM_003270.2	NP_003261.1	O43657	TSN6_HUMAN			2	219	-			36					Q54A42|Q6IAN9	Frame_Shift_Del	DEL	ENST00000373020.4	37	c.108delT	CCDS14470.1																																																																																				0.448	TSPAN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057483.1			2	4						2	4	---	---	---	---	-	99890723	A	-	99890723	7	5	251	1	0	1	0	1	0	0	0	0	16648	117	5	0	653	0	TSPAN6	23	99890723	Frame_Shift_Del	DEL	A	TCGA-HC-A76W-01A-11D-A33T-08	29427818	99890723	55379837	57	11796											
SESN2	83667	broad.mit.edu	37	chr1	28601484	28601484	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgtggacacctccgtgctccGcagggccatctggaactata	8	9	11	13	2	1	0	0	0	1	0	3	2	3	2	4	3	2	2	4	3	3	2			TCGA-HC-A76X-01A-11D-A33T-08	TCGA-HC-A76X-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d9192ed-c94c-472c-b614-fc31cc044d3b	f337b49f-54b4-4a3f-9b2e-075249ea8f13	g.chr1:28601484G>A	ENST00000253063.3	+	8	1490	c.1169G>A	c.(1168-1170)cGc>cAc	p.R390H		NM_031459.4	NP_113647.1	P58004	SESN2_HUMAN	sestrin 2	390					autophagy (GO:0006914)|fatty acid beta-oxidation (GO:0006635)|glucose import (GO:0046323)|mitochondrial DNA metabolic process (GO:0032042)|protein kinase B signaling (GO:0043491)|regulation of cAMP-dependent protein kinase activity (GO:2000479)|regulation of gluconeogenesis involved in cellular glucose homeostasis (GO:0090526)|regulation of response to reactive oxygen species (GO:1901031)|response to glucose (GO:0009749)|response to insulin (GO:0032868)|triglyceride homeostasis (GO:0070328)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				cervix(1)|endometrium(3)|large_intestine(5)|lung(7)|ovary(2)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	27		Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;4.76e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)		OV - Ovarian serous cystadenocarcinoma(117;2.98e-22)|Colorectal(126;3.04e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00279)|STAD - Stomach adenocarcinoma(196;0.00303)|BRCA - Breast invasive adenocarcinoma(304;0.00595)|READ - Rectum adenocarcinoma(331;0.0649)		TCCGTGCTCCGCAGGGCCATC	0.547																																						ENST00000253063.3																			0				cervix(1)|endometrium(3)|large_intestine(5)|lung(7)|ovary(2)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	27						c.(1168-1170)cGc>cAc		sestrin 2							112	83	93					1																	28601484		2203	4300	6503	SO:0001583	missense	83667				cell cycle arrest	cytoplasm|nucleus		g.chr1:28601484G>A	AY123223	CCDS321.1	1p35.2	2008-02-05			ENSG00000130766	ENSG00000130766			20746	protein-coding gene	gene with protein product		607767				12607115, 12203114	Standard	NM_031459		Approved	SES2, DKFZp761M0212, HI95, SEST2	uc001bps.3	P58004	OTTHUMG00000003532	ENST00000253063.3:c.1169G>A	1.37:g.28601484G>A	ENSP00000253063:p.Arg390His						p.R390H	NM_031459.4	NP_113647.1	P58004	SESN2_HUMAN		OV - Ovarian serous cystadenocarcinoma(117;2.98e-22)|Colorectal(126;3.04e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00279)|STAD - Stomach adenocarcinoma(196;0.00303)|BRCA - Breast invasive adenocarcinoma(304;0.00595)|READ - Rectum adenocarcinoma(331;0.0649)	8	1490	+		Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;4.76e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)	390					Q5T7D0|Q96SI5	Missense_Mutation	SNP	ENST00000253063.3	37	c.1169G>A	CCDS321.1	.	.	.	.	.	.	.	.	.	.	G	32	5.176681	0.94846	.	.	ENSG00000130766	ENST00000253063	T	0.52295	0.67	5.04	5.04	0.67666	.	0.055517	0.64402	D	0.000005	T	0.73598	0.3607	M	0.86651	2.83	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.79191	-0.1905	10	0.87932	D	0	-30.9036	17.5322	0.87818	0.0:0.0:1.0:0.0	.	390	P58004	SESN2_HUMAN	H	390	ENSP00000253063:R390H	ENSP00000253063:R390H	R	+	2	0	SESN2	28474071	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.351000	0.66022	2.488000	0.83962	0.655000	0.94253	CGC		0.547	SESN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009840.1			18	18	0	0	0	1	0	18	18					A	28601484	G	A	28601484	3	1	252	1	0	0	0	0	1	0	0	0	14125	1087	38	1	1199	1	SESN2	1	28601484	Missense_Mutation	SNP	G	TCGA-HC-A76X-01A-11D-A33T-08		28601484	220649137	1	11797											
GRIK3	2899	broad.mit.edu	37	chr1	37282824	37282824	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgatgatgagcgtgaagaacCaccagatgccaccaatgatg	14	7	11	9	1	0	7	0	5	0	2	0	7	0	7	4	0	3	0	4	0	3	0			TCGA-HC-A76X-01A-11D-A33T-08	TCGA-HC-A76X-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d9192ed-c94c-472c-b614-fc31cc044d3b	f337b49f-54b4-4a3f-9b2e-075249ea8f13	g.chr1:37282824C>A	ENST00000373091.3	-	13	1944	c.1928G>T	c.(1927-1929)tGg>tTg	p.W643L	GRIK3_ENST00000373093.4_Missense_Mutation_p.W643L	NM_000831.3	NP_000822.2	Q13003	GRIK3_HUMAN	glutamate receptor, ionotropic, kainate 3	643					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	axon (GO:0030424)|cell junction (GO:0030054)|dendrite (GO:0030425)|dendrite cytoplasm (GO:0032839)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	adenylate cyclase inhibiting G-protein coupled glutamate receptor activity (GO:0001640)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|ionotropic glutamate receptor activity (GO:0004970)|kainate selective glutamate receptor activity (GO:0015277)			breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	89		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)				CGTGAAGAACCACCAGATGCC	0.542																																						ENST00000373091.3																			0				breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	89						c.(1927-1929)tGg>tTg		glutamate receptor, ionotropic, kainate 3	L-Glutamic Acid(DB00142)						173	150	158					1																	37282824		2203	4300	6503	SO:0001583	missense	2899				negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission	cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button	adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|G-protein-coupled receptor binding|kainate selective glutamate receptor activity	g.chr1:37282824C>A	U16127	CCDS416.1	1p34.3	2012-08-29			ENSG00000163873	ENSG00000163873		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4581	protein-coding gene	gene with protein product		138243				8128318	Standard	NM_000831		Approved	GluK3, GLUR7	uc001caz.2	Q13003	OTTHUMG00000004189	ENST00000373091.3:c.1928G>T	1.37:g.37282824C>A	ENSP00000362183:p.Trp643Leu					GRIK3_ENST00000373093.4_Missense_Mutation_p.W643L	p.W643L	NM_000831.3	NP_000822.2	Q13003	GRIK3_HUMAN			13	1944	-		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)	643					A9Z1Z8|B1AMS6|Q13004|Q16136	Missense_Mutation	SNP	ENST00000373091.3	37	c.1928G>T	CCDS416.1	.	.	.	.	.	.	.	.	.	.	C	33	5.278869	0.95489	.	.	ENSG00000163873	ENST00000373091;ENST00000373093	T;T	0.55234	0.53;0.53	5.74	5.74	0.90152	Ionotropic glutamate receptor (2);	0.000000	0.85682	D	0.000000	T	0.81894	0.4919	H	0.95260	3.645	0.80722	D	1	D;D	0.69078	0.997;0.997	D;D	0.75020	0.985;0.985	D	0.86731	0.1948	10	0.87932	D	0	.	19.9326	0.97124	0.0:1.0:0.0:0.0	.	643;643	A9Z1Z8;Q13003	.;GRIK3_HUMAN	L	643	ENSP00000362183:W643L;ENSP00000362185:W643L	ENSP00000362183:W643L	W	-	2	0	GRIK3	37055411	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.818000	0.86416	2.720000	0.93068	0.650000	0.86243	TGG		0.542	GRIK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012053.1	NM_000831		3	48	1	0	0.115264	1	0.119697	3	48					A	37282824	C	A	37282824	3	1	252	1	0	0	0	0	1	0	0	0	6775	595	21	5	847	5	GRIK3	1	37282824	Missense_Mutation	SNP	C	TCGA-HC-A76X-01A-11D-A33T-08	8681340	37282824	211967797	2	11798											
GBP7	388646	broad.mit.edu	37	chr1	89618421	89618421	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaagctgctgcttagaagcaCagccagggcaaagatccacg	14	5	11	11	1	0	2	0	0	0	2	1	2	1	2	2	1	5	5	2	1	4	1			TCGA-HC-A76X-01A-11D-A33T-08	TCGA-HC-A76X-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d9192ed-c94c-472c-b614-fc31cc044d3b	f337b49f-54b4-4a3f-9b2e-075249ea8f13	g.chr1:89618421C>A	ENST00000294671.2	-	4	496	c.358G>T	c.(358-360)Gtg>Ttg	p.V120L		NM_207398.2	NP_997281.2	Q8N8V2	GBP7_HUMAN	guanylate binding protein 7	120	GB1/RHD3-type G.|GTPase domain (Globular). {ECO:0000250}.					membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		Lung NSC(277;0.0908)		all cancers(265;0.00835)|Epithelial(280;0.0322)		CTTAGAAGCACAGCCAGGGCA	0.468																																						ENST00000294671.2																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(358-360)Gtg>Ttg		guanylate binding protein 7							94	90	91					1																	89618421		2203	4300	6503	SO:0001583	missense	388646					integral to membrane	GTP binding|GTPase activity	g.chr1:89618421C>A	AK096141	CCDS720.1	1p22.2	2008-02-05			ENSG00000213512	ENSG00000213512			29606	protein-coding gene	gene with protein product		612468					Standard	NM_207398		Approved	FLJ38822, GBP4L	uc001dna.2	Q8N8V2	OTTHUMG00000010659	ENST00000294671.2:c.358G>T	1.37:g.89618421C>A	ENSP00000294671:p.Val120Leu						p.V120L	NM_207398.2	NP_997281.2	Q8N8V2	GBP7_HUMAN		all cancers(265;0.00835)|Epithelial(280;0.0322)	4	496	-		Lung NSC(277;0.0908)	120						Missense_Mutation	SNP	ENST00000294671.2	37	c.358G>T	CCDS720.1	.	.	.	.	.	.	.	.	.	.	C	7.612	0.675068	0.14841	.	.	ENSG00000213512	ENST00000294671	T	0.75367	-0.93	3.69	-0.774	0.10991	Guanylate-binding protein, N-terminal (1);	0.149719	0.42548	D	0.000700	T	0.53384	0.1793	M	0.67700	2.07	0.09310	N	0.99999	P	0.39862	0.692	B	0.41813	0.367	T	0.53085	-0.8488	10	0.48119	T	0.1	.	6.8009	0.23750	0.0:0.3556:0.0:0.6444	.	120	Q8N8V2	GBP7_HUMAN	L	120	ENSP00000294671:V120L	ENSP00000294671:V120L	V	-	1	0	GBP7	89391009	0.146000	0.22672	0.288000	0.24862	0.201000	0.24016	0.459000	0.21908	-0.015000	0.14150	0.205000	0.17691	GTG		0.468	GBP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029401.1	NM_207398		14	29	1	0	4.93089e-13	1	5.32536e-13	14	29					A	89618421	C	A	89618421	3	1	252	1	0	0	0	0	1	0	0	0	6279	478	17	5	1590	5	GBP7	1	89618421	Missense_Mutation	SNP	C	TCGA-HC-A76X-01A-11D-A33T-08	52335597	89618421	159632200	3	11799											
AHCYL1	10768	broad.mit.edu	37	chr1	110555601	110555601	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctcaactcagaatgaagtagCtgcagcactggctgaggctg	11	8	12	10	0	2	3	2	2	0	1	2	3	2	3	0	2	4	6	0	2	4	1			TCGA-HC-A76X-01A-11D-A33T-08	TCGA-HC-A76X-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d9192ed-c94c-472c-b614-fc31cc044d3b	f337b49f-54b4-4a3f-9b2e-075249ea8f13	g.chr1:110555601C>A	ENST00000369799.5	+	5	927	c.560C>A	c.(559-561)gCt>gAt	p.A187D	AHCYL1_ENST00000475081.1_3'UTR|AHCYL1_ENST00000359172.3_Missense_Mutation_p.A140D|AHCYL1_ENST00000393614.4_Missense_Mutation_p.A140D	NM_001242673.1|NM_001242674.1|NM_006621.5	NP_001229602.1|NP_001229603.1|NP_006612.2	O43865	SAHH2_HUMAN	adenosylhomocysteinase-like 1	187					mRNA polyadenylation (GO:0006378)|one-carbon metabolic process (GO:0006730)|positive regulation of sodium ion transport (GO:0010765)|protein export from nucleus (GO:0006611)|regulation of anion transport (GO:0044070)|regulation of ion transmembrane transporter activity (GO:0032412)|regulation of mRNA 3'-end processing (GO:0031440)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)	adenosylhomocysteinase activity (GO:0004013)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)	18		all_epithelial(167;3.58e-05)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0259)|Colorectal(144;0.123)|all cancers(265;0.134)|Epithelial(280;0.141)|LUSC - Lung squamous cell carcinoma(189;0.143)		AATGAAGTAGCTGCAGCACTG	0.443																																						ENST00000369799.5																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)	18						c.(559-561)gCt>gAt		adenosylhomocysteinase-like 1							93	81	85					1																	110555601		2203	4300	6503	SO:0001583	missense	10768				one-carbon metabolic process	endoplasmic reticulum	adenosylhomocysteinase activity	g.chr1:110555601C>A	U82761	CCDS818.1, CCDS55620.1	1p13	2014-06-12	2009-06-12		ENSG00000168710	ENSG00000168710			344	protein-coding gene	gene with protein product	"inositol 1,4,5-trisphosphate receptor-binding protein", "protein phosphatase 1, regulatory subunit 78"	607826	"S-adenosylhomocysteine hydrolase-like 1"			11904675, 16754674, 12525476	Standard	NM_006621		Approved	XPVKONA, IRBIT, PPP1R78	uc001dyx.3	O43865	OTTHUMG00000011652	ENST00000369799.5:c.560C>A	1.37:g.110555601C>A	ENSP00000358814:p.Ala187Asp					AHCYL1_ENST00000475081.1_3'UTR|AHCYL1_ENST00000359172.3_Missense_Mutation_p.A140D|AHCYL1_ENST00000393614.4_Missense_Mutation_p.A140D	p.A187D	NM_001242673.1|NM_001242674.1|NM_006621.5	NP_001229602.1|NP_001229603.1|NP_006612.2	O43865	SAHH2_HUMAN		Lung(183;0.0259)|Colorectal(144;0.123)|all cancers(265;0.134)|Epithelial(280;0.141)|LUSC - Lung squamous cell carcinoma(189;0.143)	5	927	+		all_epithelial(167;3.58e-05)|all_lung(203;0.000116)|Lung NSC(277;0.000233)	187					B4E168|Q2TAJ6|Q502W8|Q5VSM0|Q6P171|Q96PK4|Q9UG84	Missense_Mutation	SNP	ENST00000369799.5	37	c.560C>A	CCDS818.1	.	.	.	.	.	.	.	.	.	.	C	36	5.603081	0.96614	.	.	ENSG00000168710	ENST00000369799;ENST00000359172;ENST00000393614	D;D;D	0.83506	-1.73;-1.73;-1.73	5.98	5.98	0.97165	S-adenosyl-L-homocysteine hydrolase, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.95385	0.8502	H	0.98965	4.385	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96566	0.9419	10	0.87932	D	0	-10.8515	20.452	0.99131	0.0:1.0:0.0:0.0	.	187	O43865	SAHH2_HUMAN	D	187;140;140	ENSP00000358814:A187D;ENSP00000352092:A140D;ENSP00000377238:A140D	ENSP00000352092:A140D	A	+	2	0	AHCYL1	110357124	1.000000	0.71417	1.000000	0.80357	0.925000	0.55904	7.796000	0.85898	2.838000	0.97847	0.591000	0.81541	GCT		0.443	AHCYL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032243.1			3	28	1	0	1	1	1	3	28					A	110555601	C	A	110555601	3	1	252	1	0	0	0	0	1	0	0	0	410	797	28	5	578	5	AHCYL1	1	110555601	Missense_Mutation	SNP	C	TCGA-HC-A76X-01A-11D-A33T-08	20937180	110555601	138695020	4	11800											
TTC13	79573	broad.mit.edu	37	chr1	231060649	231060649	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atcaaccgtgtcttcccattCattcgaactttcgagttggt	8	15	7	11	3	3	0	2	0	1	0	6	2	4	0	2	1	2	1	2	1	2	5			TCGA-HC-A76X-01A-11D-A33T-08	TCGA-HC-A76X-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d9192ed-c94c-472c-b614-fc31cc044d3b	f337b49f-54b4-4a3f-9b2e-075249ea8f13	g.chr1:231060649C>T	ENST00000366661.4	-	14	1666	c.1659G>A	c.(1657-1659)atG>atA	p.M553I	TTC13_ENST00000366662.4_Missense_Mutation_p.M500I|TTC13_ENST00000414259.1_Missense_Mutation_p.M500I	NM_024525.4	NP_078801.3	Q8NBP0	TTC13_HUMAN	tetratricopeptide repeat domain 13	553										central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	39	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.167)		COAD - Colon adenocarcinoma(196;0.243)		TCTTCCCATTCATTCGAACTT	0.433																																						ENST00000366661.4																			0				central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	39						c.(1657-1659)atG>atA		tetratricopeptide repeat domain 13							223	182	196					1																	231060649		2203	4300	6503	SO:0001583	missense	79573						binding	g.chr1:231060649C>T		CCDS1588.1, CCDS44332.1, CCDS44332.2	1q42.2	2013-01-10			ENSG00000143643	ENSG00000143643		"Tetratricopeptide (TTC) repeat domain containing"	26204	protein-coding gene	gene with protein product							Standard	NM_024525		Approved	FLJ22584	uc001huf.4	Q8NBP0	OTTHUMG00000037788	ENST00000366661.4:c.1659G>A	1.37:g.231060649C>T	ENSP00000355621:p.Met553Ile					TTC13_ENST00000414259.1_Missense_Mutation_p.M500I|TTC13_ENST00000366662.4_Missense_Mutation_p.M500I	p.M553I	NM_024525.4	NP_078801.3	Q8NBP0	TTC13_HUMAN		COAD - Colon adenocarcinoma(196;0.243)	14	1666	-	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.167)	553					B1AQI1|B1AQI2|Q8IVP8|Q8NBI0|Q8ND20	Missense_Mutation	SNP	ENST00000366661.4	37	c.1659G>A	CCDS1588.1	.	.	.	.	.	.	.	.	.	.	C	11.30	1.599190	0.28534	.	.	ENSG00000143643	ENST00000366661;ENST00000366662;ENST00000414259	T;T;T	0.32272	1.46;1.46;1.46	5.2	5.2	0.72013	.	0.137522	0.64402	D	0.000002	T	0.11879	0.0289	N	0.01576	-0.805	0.36156	D	0.847761	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.04013	0.0;0.0;0.001;0.001	T	0.22347	-1.0219	10	0.13853	T	0.58	-26.8321	14.006	0.64463	0.1513:0.8487:0.0:0.0	.	478;500;500;553	Q69YR0;E9PGV4;Q8NBP0-2;Q8NBP0	.;.;.;TTC13_HUMAN	I	553;500;500	ENSP00000355621:M553I;ENSP00000355622:M500I;ENSP00000416631:M500I	ENSP00000355621:M553I	M	-	3	0	TTC13	229127272	1.000000	0.71417	0.913000	0.36048	0.795000	0.44927	1.851000	0.39338	2.576000	0.86940	0.655000	0.94253	ATG		0.433	TTC13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092229.2	NM_024525		34	47	0	0	0	1	0	34	47					T	231060649	C	T	231060649	3	4	252	1	0	0	0	0	1	0	0	0	16677	826	29	3	963	3	TTC13	1	231060649	Missense_Mutation	SNP	C	TCGA-HC-A76X-01A-11D-A33T-08	120505048	231060649	18189972	5	11801											
HEATR1	55127	broad.mit.edu	37	chr1	236744591	236744591	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaaagcattgcacagcccaCataaagagcttgagtctgca	15	7	9	10	0	1	3	0	1	1	2	1	3	1	3	1	0	5	4	1	0	3	3			TCGA-HC-A76X-01A-11D-A33T-08	TCGA-HC-A76X-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d9192ed-c94c-472c-b614-fc31cc044d3b	f337b49f-54b4-4a3f-9b2e-075249ea8f13	g.chr1:236744591C>T	ENST00000366582.3	-	20	2800	c.2686G>A	c.(2686-2688)Gtg>Atg	p.V896M	HEATR1_ENST00000366581.2_Missense_Mutation_p.V896M	NM_018072.5	NP_060542.4	Q9H583	HEAT1_HUMAN	HEAT repeat containing 1	896					rRNA processing (GO:0006364)	membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	87	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			GCACAGCCCACATAAAGAGCT	0.398																																						ENST00000366582.3																			0				NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	87						c.(2686-2688)Gtg>Atg		HEAT repeat containing 1							168	161	164					1																	236744591		2203	4300	6503	SO:0001583	missense	55127				rRNA processing	nucleolus|ribonucleoprotein complex	protein binding	g.chr1:236744591C>T	BC065205	CCDS31066.1	1q43	2011-08-12			ENSG00000119285	ENSG00000119285			25517	protein-coding gene	gene with protein product	"UTP10, small subunit (SSU) processome component, homolog (yeast)"					17699751	Standard	NM_018072		Approved	FLJ10359, BAP28, UTP10	uc001hyd.2	Q9H583	OTTHUMG00000040061	ENST00000366582.3:c.2686G>A	1.37:g.236744591C>T	ENSP00000355541:p.Val896Met					HEATR1_ENST00000366581.2_Missense_Mutation_p.V896M	p.V896M	NM_018072.5	NP_060542.4	Q9H583	HEAT1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00117)		20	2800	-	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	896					Q5T3Q8|Q6P197|Q9NW23	Missense_Mutation	SNP	ENST00000366582.3	37	c.2686G>A	CCDS31066.1	.	.	.	.	.	.	.	.	.	.	C	13.55	2.269861	0.40095	.	.	ENSG00000119285	ENST00000366582;ENST00000366581	T;T	0.66460	-0.21;3.61	5.2	-4.38	0.03622	Armadillo-type fold (1);	0.720515	0.14368	N	0.323997	T	0.51517	0.1679	L	0.29908	0.895	0.09310	N	0.999996	B;B	0.10296	0.003;0.003	B;B	0.10450	0.004;0.005	T	0.38373	-0.9664	10	0.72032	D	0.01	.	14.5327	0.67936	0.0:0.1577:0.0:0.8423	.	896;896	Q5T3Q7;Q9H583	.;HEAT1_HUMAN	M	896	ENSP00000355541:V896M;ENSP00000355540:V896M	ENSP00000355540:V896M	V	-	1	0	HEATR1	234811214	0.006000	0.16342	0.000000	0.03702	0.483000	0.33249	-0.088000	0.11198	-0.941000	0.03700	0.655000	0.94253	GTG		0.398	HEATR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096635.1	XM_375853		8	104	0	0	0	1	0	8	104					T	236744591	C	T	236744591	3	4	252	1	0	0	0	0	1	0	0	0	7027	478	17	3	3852	3	HEATR1	1	236744591	Missense_Mutation	SNP	C	TCGA-HC-A76X-01A-11D-A33T-08	5683942	236744591	12506030	6	11802											
FAM179A	165186	broad.mit.edu	37	chr2	29240760	29240760	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctgaggaagtgggccagccGggcctccctgcccagcatcc	6	5	13	17	1	0	1	0	1	0	0	2	2	2	2	7	3	3	1	7	3	1	0	rs555349514	byFrequency	TCGA-HC-A76X-01A-11D-A33T-08	TCGA-HC-A76X-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d9192ed-c94c-472c-b614-fc31cc044d3b	f337b49f-54b4-4a3f-9b2e-075249ea8f13	g.chr2:29240760G>A	ENST00000379558.4	+	10	1649	c.1298G>A	c.(1297-1299)cGg>cAg	p.R433Q	FAM179A_ENST00000403861.2_Intron|FAM179A_ENST00000465300.1_Intron	NM_199280.2	NP_954974.2	Q6ZUX3	F179A_HUMAN	family with sequence similarity 179, member A	433										breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						TGGGCCAGCCGGGCCTCCCTG	0.692													G|||	13	0.00259585	0	0	5008	,	,		16606	0		0	False		,,,				2504	0.0133					ENST00000379558.4																			0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						c.(1297-1299)cGg>cAg		family with sequence similarity 179, member A							19	23	22					2																	29240760		1964	4144	6108	SO:0001583	missense	165186						binding	g.chr2:29240760G>A	AK125239, AK125744	CCDS1769.2	2p23.2	2008-10-30			ENSG00000189350	ENSG00000189350			33715	protein-coding gene	gene with protein product						16344560	Standard	NM_199280		Approved	FLJ43249, LOC165186	uc010ezl.3	Q6ZUX3	OTTHUMG00000128432	ENST00000379558.4:c.1298G>A	2.37:g.29240760G>A	ENSP00000368876:p.Arg433Gln					FAM179A_ENST00000403861.2_Intron|FAM179A_ENST00000465300.1_Intron	p.R433Q	NM_199280.2	NP_954974.2	Q6ZUX3	F179A_HUMAN			10	1649	+			433					Q6ZUF5	Missense_Mutation	SNP	ENST00000379558.4	37	c.1298G>A	CCDS1769.2	.	.	.	.	.	.	.	.	.	.	G	16.90	3.249201	0.59103	.	.	ENSG00000189350	ENST00000379558	T	0.13420	2.59	4.26	4.26	0.50523	.	.	.	.	.	T	0.24198	0.0586	L	0.34521	1.04	0.80722	D	1	D	0.76494	0.999	P	0.61275	0.886	T	0.01583	-1.1319	9	0.44086	T	0.13	.	16.808	0.85710	0.0:0.0:1.0:0.0	.	433	Q6ZUX3	F179A_HUMAN	Q	433	ENSP00000368876:R433Q	ENSP00000368876:R433Q	R	+	2	0	FAM179A	29094264	0.988000	0.35896	0.958000	0.39756	0.010000	0.07245	4.390000	0.59646	2.346000	0.79739	0.563000	0.77884	CGG		0.692	FAM179A-003	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317848.4	NM_199280		6	15	0	0	0	1	0	6	15					A	29240760	G	A	29240760	3	1	252	1	0	0	0	0	1	0	0	0	5505	1116	39	2	1332	2	FAM179A	2	29240760	Missense_Mutation	SNP	G	TCGA-HC-A76X-01A-11D-A33T-08		29240760	213958613	7	11803											
NOP58	51602	broad.mit.edu	37	chr2	203160435	203160435	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccaagcatgcagcttctaccGttcagattcttggagctgaa	10	11	9	11	1	3	2	1	1	2	1	3	3	3	3	2	1	5	5	2	1	3	5	rs150533873		TCGA-HC-A76X-01A-11D-A33T-08	TCGA-HC-A76X-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d9192ed-c94c-472c-b614-fc31cc044d3b	f337b49f-54b4-4a3f-9b2e-075249ea8f13	g.chr2:203160435G>A	ENST00000264279.5	+	10	1172	c.946G>A	c.(946-948)Gtt>Att	p.V316I	SNORD11_ENST00000459124.1_RNA	NM_015934.3	NP_057018.1	Q9Y2X3	NOP58_HUMAN	NOP58 ribonucleoprotein	316	Nop. {ECO:0000255|PROSITE- ProRule:PRU00690}.				cell growth (GO:0016049)|rRNA processing (GO:0006364)|snRNP protein import into nucleus (GO:0006608)	box C/D snoRNP complex (GO:0031428)|Cajal body (GO:0015030)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|pre-snoRNP complex (GO:0070761)|small nucleolar ribonucleoprotein complex (GO:0005732)	poly(A) RNA binding (GO:0044822)|snoRNA binding (GO:0030515)			breast(2)|cervix(1)|endometrium(3)|large_intestine(4)|lung(4)|prostate(2)	16						AGCTTCTACCGTTCAGATTCT	0.413													G|||	1	0.000199681	8e-04	0	5008	,	,		17122	0		0	False		,,,				2504	0					ENST00000264279.5																			0				breast(2)|cervix(1)|endometrium(3)|large_intestine(4)|lung(4)|prostate(2)	16						c.(946-948)Gtt>Att		NOP58 ribonucleoprotein		G	ILE/VAL	2,4404	4.2+/-10.8	0,2,2201	113	122	119		946	6.2	1	2	dbSNP_134	119	3,8597	3.0+/-9.4	0,3,4297	yes	missense	NOP58	NM_015934.3	29	0,5,6498	AA,AG,GG		0.0349,0.0454,0.0384	benign	316/530	203160435	5,13001	2203	4300	6503	SO:0001583	missense	51602				cell growth|rRNA processing|snRNP protein import into nucleus	box C/D snoRNP complex|Cajal body|cytoplasm|pre-snoRNP complex	protein binding|snoRNA binding	g.chr2:203160435G>A		CCDS2353.1	2q33.1	2012-12-10	2012-12-10		ENSG00000055044	ENSG00000055044			29926	protein-coding gene	gene with protein product			"NOP58 ribonucleoprotein homolog (yeast)"			10606270, 10925205	Standard	NM_015934		Approved	NOP5, HSPC120	uc002uzb.3	Q9Y2X3	OTTHUMG00000132840	ENST00000264279.5:c.946G>A	2.37:g.203160435G>A	ENSP00000264279:p.Val316Ile						p.V316I	NM_015934.3	NP_057018.1	Q9Y2X3	NOP58_HUMAN			10	1172	+			316			Nop.		Q53SA4|Q6PK08|Q9P036|Q9UFN3	Missense_Mutation	SNP	ENST00000264279.5	37	c.946G>A	CCDS2353.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.962112	0.74016	4.54E-4	3.49E-4	ENSG00000055044	ENST00000264279	T	0.73897	-0.79	6.17	6.17	0.99709	Pre-mRNA processing ribonucleoprotein, snoRNA-binding domain (1);	0.114616	0.64402	D	0.000017	T	0.65678	0.2714	N	0.13235	0.315	0.80722	D	1	B	0.34372	0.451	B	0.38921	0.285	T	0.61168	-0.7117	10	0.27082	T	0.32	-9.934	20.8794	0.99867	0.0:0.0:1.0:0.0	.	316	Q9Y2X3	NOP58_HUMAN	I	316	ENSP00000264279:V316I	ENSP00000264279:V316I	V	+	1	0	NOP58	202868680	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	9.458000	0.97634	2.941000	0.99782	0.655000	0.94253	GTT		0.413	NOP58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256313.2	NM_015934		43	60	0	0	0	1	0	43	60					A	203160435	G	A	203160435	3	1	252	1	0	0	0	0	1	0	0	0	10540	1145	40	1	984	1	NOP58	2	203160435	Missense_Mutation	SNP	G	TCGA-HC-A76X-01A-11D-A33T-08	173919675	203160435	40038938	8	11804											
CPS1	1373	broad.mit.edu	37	chr2	211542610	211542610	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttcctaccattatattttcaGgtgaccaaactttttgctga	10	17	5	9	0	1	2	1	2	0	0	2	2	2	2	3	1	3	1	3	1	4	8			TCGA-HC-A76X-01A-11D-A33T-08	TCGA-HC-A76X-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d9192ed-c94c-472c-b614-fc31cc044d3b	f337b49f-54b4-4a3f-9b2e-075249ea8f13	g.chr2:211542610G>A	ENST00000233072.5	+	38	4600		c.e38-1		CPS1_ENST00000451903.2_Splice_Site|CPS1_ENST00000430249.2_Splice_Site	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN	carbamoyl-phosphate synthase 1, mitochondrial						anion homeostasis (GO:0055081)|carbamoyl phosphate biosynthetic process (GO:0070409)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to cAMP (GO:0071320)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to glucagon stimulus (GO:0071377)|cellular response to oleic acid (GO:0071400)|citrulline biosynthetic process (GO:0019240)|glutamine catabolic process (GO:0006543)|glycogen catabolic process (GO:0005980)|hepatocyte differentiation (GO:0070365)|homocysteine metabolic process (GO:0050667)|midgut development (GO:0007494)|nitric oxide metabolic process (GO:0046209)|positive regulation of vasodilation (GO:0045909)|response to amine (GO:0014075)|response to amino acid (GO:0043200)|response to dexamethasone (GO:0071548)|response to drug (GO:0042493)|response to food (GO:0032094)|response to growth hormone (GO:0060416)|response to lipopolysaccharide (GO:0032496)|response to starvation (GO:0042594)|response to toxic substance (GO:0009636)|response to zinc ion (GO:0010043)|small molecule metabolic process (GO:0044281)|triglyceride catabolic process (GO:0019433)|urea cycle (GO:0000050)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|carbamoyl-phosphate synthase (ammonia) activity (GO:0004087)|endopeptidase activity (GO:0004175)|glutamate binding (GO:0016595)|modified amino acid binding (GO:0072341)|phospholipid binding (GO:0005543)			breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)	Carglumic Acid(DB06775)	TATATTTTCAGGTGACCAAAC	0.413																																						ENST00000233072.5																			0				breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142						c.e38-1		carbamoyl-phosphate synthase 1, mitochondrial							211	222	218					2																	211542610		2203	4300	6503	SO:0001630	splice_region_variant	1373				carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity	g.chr2:211542610G>A	AF154830	CCDS2393.1, CCDS46505.1, CCDS46506.1	2p	2014-09-17	2010-05-11		ENSG00000021826	ENSG00000021826	6.3.4.16		2323	protein-coding gene	gene with protein product		608307	"carbamoyl-phosphate synthetase 1, mitochondrial"				Standard	NM_001122633		Approved		uc002vee.4	P31327	OTTHUMG00000132994	ENST00000233072.5:c.4405-1G>A	2.37:g.211542610G>A						CPS1_ENST00000430249.2_Splice_Site|CPS1_ENST00000451903.2_Splice_Site		NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN		Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)	38	4600	+								B7Z818|J3KQL0|O43774|Q53TL5|Q59HF8|Q7Z5I5	Splice_Site	SNP	ENST00000233072.5	37		CCDS2393.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.210657	0.79240	.	.	ENSG00000021826	ENST00000430249;ENST00000539150;ENST00000233072;ENST00000451903	.	.	.	5.44	5.44	0.79542	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.2565	0.93948	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CPS1	211250855	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	8.817000	0.91985	2.546000	0.85860	0.561000	0.74099	.		0.413	CPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256569.5		Intron	4	160	0	0	0	1	0	4	160					A	211542610	G	A	211542610	5	1	252	1	0	0	0	0	0	0	1	0	3823	1014	35	3	4576	3	CPS1	2	211542610	Splice_Site	SNP	G	TCGA-HC-A76X-01A-11D-A33T-08	8382175	211542610	31656763	9	11805											
WDR48	57599	broad.mit.edu	37	chr3	39125653	39125653	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttttgatgtataggcatgtaAagttgaagatctgggcaaag	13	13	12	3	0	1	3	0	2	1	1	1	3	1	3	0	2	0	5	0	2	6	6			TCGA-HC-A76X-01A-11D-A33T-08	TCGA-HC-A76X-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d9192ed-c94c-472c-b614-fc31cc044d3b	f337b49f-54b4-4a3f-9b2e-075249ea8f13	g.chr3:39125653A>C	ENST00000302313.5	+	12	1209	c.1181A>C	c.(1180-1182)aAa>aCa	p.K394T	WDR48_ENST00000544962.1_Missense_Mutation_p.K119T|WDR48_ENST00000396258.3_Missense_Mutation_p.K312T|WDR48_ENST00000418020.1_5'UTR	NM_020839.2	NP_065890.1	Q8TAF3	WDR48_HUMAN	WD repeat domain 48	394					double-strand break repair via homologous recombination (GO:0000724)|embryonic organ development (GO:0048568)|homeostasis of number of cells (GO:0048872)|multicellular organism growth (GO:0035264)|positive regulation of epithelial cell proliferation (GO:0050679)|protein deubiquitination (GO:0016579)|regulation of protein monoubiquitination (GO:1902525)|seminiferous tubule development (GO:0072520)|single fertilization (GO:0007338)|skeletal system morphogenesis (GO:0048705)|skin development (GO:0043588)|spermatogenesis (GO:0007283)|viral process (GO:0016032)	intracellular membrane-bounded organelle (GO:0043231)|lysosome (GO:0005764)|nucleus (GO:0005634)				breast(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)		TAGGCATGTAAAGTTGAAGAT	0.303																																						ENST00000302313.5																			0				breast(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15						c.(1180-1182)aAa>aCa		WD repeat domain 48							84	91	89					3																	39125653		2203	4297	6500	SO:0001583	missense	57599				interspecies interaction between organisms|protein deubiquitination	lysosome|nucleus	protein binding	g.chr3:39125653A>C	AF468833	CCDS33738.1	3p21.33	2014-06-16			ENSG00000114742	ENSG00000114742		"WD repeat domain containing"	30914	protein-coding gene	gene with protein product		612167				10819331, 12196293, 24482476	Standard	NM_020839		Approved	KIAA1449, P80, SPG60	uc003cit.3	Q8TAF3	OTTHUMG00000155972	ENST00000302313.5:c.1181A>C	3.37:g.39125653A>C	ENSP00000307491:p.Lys394Thr					WDR48_ENST00000544962.1_Missense_Mutation_p.K119T|WDR48_ENST00000418020.1_5'UTR|WDR48_ENST00000396258.3_Missense_Mutation_p.K312T	p.K394T	NM_020839.2	NP_065890.1	Q8TAF3	WDR48_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)	12	1209	+			394					B4DM86|B4DQI2|B4DY84|Q63HJ2|Q658Y1|Q8N3Z1|Q9NSK8|Q9P279	Missense_Mutation	SNP	ENST00000302313.5	37	c.1181A>C	CCDS33738.1	.	.	.	.	.	.	.	.	.	.	A	26.8	4.774762	0.90108	.	.	ENSG00000114742	ENST00000302313;ENST00000544962;ENST00000396258	T;D;T	0.89810	1.11;-2.57;0.83	5.91	5.91	0.95273	WD40/YVTN repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.93986	0.8074	M	0.82517	2.595	0.80722	D	1	D;D;D;D	0.76494	0.989;0.993;0.999;0.999	D;P;D;D	0.70935	0.969;0.888;0.951;0.971	D	0.92418	0.5943	10	0.16420	T	0.52	0.0194	16.3483	0.83171	1.0:0.0:0.0:0.0	.	119;312;385;394	Q8TAF3-5;Q8TAF3-4;Q8TAF3-3;Q8TAF3	.;.;.;WDR48_HUMAN	T	394;119;312	ENSP00000307491:K394T;ENSP00000445187:K119T;ENSP00000379557:K312T	ENSP00000307491:K394T	K	+	2	0	WDR48	39100657	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.339000	0.96797	2.254000	0.74563	0.533000	0.62120	AAA		0.303	WDR48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342529.1	NM_020839		9	17	0	0	0	1	0	9	17					C	39125653	A	C	39125653	3	2	252	1	0	0	0	0	1	0	0	0	17298	14	1	5	1227	5	WDR48	3	39125653	Missense_Mutation	SNP	A	TCGA-HC-A76X-01A-11D-A33T-08		39125653	158896777	10	11806											
FGF5	2250	broad.mit.edu	37	chr4	81188003	81188003	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcttgtccttcctcctcctcCtcttcttcagccacctgatc	3	15	4	19	0	3	1	1	1	2	0	9	1	8	1	7	0	1	1	7	0	0	4			TCGA-HC-A76X-01A-11D-A33T-08	TCGA-HC-A76X-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d9192ed-c94c-472c-b614-fc31cc044d3b	f337b49f-54b4-4a3f-9b2e-075249ea8f13	g.chr4:81188003C>T	ENST00000312465.7	+	1	251	c.25C>T	c.(25-27)Ctc>Ttc	p.L9F	FGF5_ENST00000456523.3_Missense_Mutation_p.L9F	NM_004464.3	NP_004455.2	P12034	FGF5_HUMAN	fibroblast growth factor 5	9					cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glial cell differentiation (GO:0010001)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|signal transduction involved in regulation of gene expression (GO:0023019)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	fibroblast growth factor receptor binding (GO:0005104)			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	22						CCTCCTCCTCCTCTTCTTCAG	0.627																																						ENST00000456523.3																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	22						c.(25-27)Ctc>Ttc		fibroblast growth factor 5							41	45	43					4																	81188003		2202	4299	6501	SO:0001583	missense	2250				cell proliferation|cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|positive regulation of cell division|positive regulation of cell proliferation	extracellular space	fibroblast growth factor receptor binding|growth factor activity	g.chr4:81188003C>T	M23534	CCDS3586.1, CCDS34021.1	4q21	2014-01-30			ENSG00000138675	ENSG00000138675		"Endogenous ligands"	3683	protein-coding gene	gene with protein product		165190				3211147, 2577873	Standard	NM_001291812		Approved		uc003hmd.3	P12034	OTTHUMG00000130288	ENST00000312465.7:c.25C>T	4.37:g.81188003C>T	ENSP00000311697:p.Leu9Phe					FGF5_ENST00000312465.7_Missense_Mutation_p.L9F	p.L9F	NM_033143.2	NP_149134.1	P12034	FGF5_HUMAN			1	211	+			9					B2R554|O75846|Q3Y8M3|Q8NF90	Missense_Mutation	SNP	ENST00000312465.7	37	c.25C>T	CCDS34021.1	.	.	.	.	.	.	.	.	.	.	C	16.87	3.240743	0.58995	.	.	ENSG00000138675	ENST00000312465;ENST00000456523	T;T	0.11712	2.75;2.75	5.36	4.5	0.54988	.	0.504072	0.19266	N	0.118534	T	0.15825	0.0381	N	0.24115	0.695	0.25746	N	0.985108	D;P	0.63046	0.992;0.883	P;P	0.62298	0.9;0.459	T	0.04693	-1.0933	10	0.59425	D	0.04	.	8.6866	0.34240	0.1571:0.7677:0.0:0.0751	.	9;9	P12034-2;P12034	.;FGF5_HUMAN	F	9	ENSP00000311697:L9F;ENSP00000398353:L9F	ENSP00000311697:L9F	L	+	1	0	FGF5	81407027	0.990000	0.36364	0.997000	0.53966	0.872000	0.50106	0.465000	0.22004	1.436000	0.47453	0.561000	0.74099	CTC		0.627	FGF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252627.2			3	50	0	0	0	1	0	3	50					T	81188003	C	T	81188003	3	4	252	1	0	0	0	0	1	0	0	0	5855	681	24	3	27	3	FGF5	4	81188003	Missense_Mutation	SNP	C	TCGA-HC-A76X-01A-11D-A33T-08		81188003	109966273	11	11807											
BASP1	10409	broad.mit.edu	37	chr5	17275414	17275414	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caagaaggccgagggcgcggCgacggaagaggaggggaccc	11	0	20	10	5	0	2	0	0	0	2	0	7	0	5	2	7	0	0	2	7	3	0			TCGA-HC-A76X-01A-11D-A33T-08	TCGA-HC-A76X-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d9192ed-c94c-472c-b614-fc31cc044d3b	f337b49f-54b4-4a3f-9b2e-075249ea8f13	g.chr5:17275414C>T	ENST00000322611.3	+	2	349	c.89C>T	c.(88-90)gCg>gTg	p.A30V		NM_001271606.1|NM_006317.3	NP_001258535.1|NP_006308.3	P80723	BASP1_HUMAN	brain abundant, membrane attached signal protein 1	30					diaphragm development (GO:0060539)|glomerular visceral epithelial cell differentiation (GO:0072112)|gonad development (GO:0008406)|mesenchymal to epithelial transition (GO:0060231)|metanephric mesenchyme development (GO:0072075)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of heart growth (GO:0060421)|positive regulation of metanephric ureteric bud development (GO:2001076)|substantia nigra development (GO:0021762)|thorax and anterior abdomen determination (GO:0007356)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	protein domain specific binding (GO:0019904)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)			endometrium(1)|lung(8)	9						GAGGGCGCGGCGACGGAAGAG	0.632																																						ENST00000322611.3																			0				endometrium(1)|lung(8)	9						c.(88-90)gCg>gTg		brain abundant, membrane attached signal protein 1							34	40	38					5																	17275414		2198	4296	6494	SO:0001583	missense	10409				glomerular visceral epithelial cell differentiation|negative regulation of transcription, DNA-dependent	cytoplasm|cytoskeleton|growth cone|nuclear speck|plasma membrane	protein domain specific binding|transcription corepressor activity|transcription regulatory region DNA binding	g.chr5:17275414C>T	AF039656	CCDS3888.1	5p15.1	2010-12-03			ENSG00000176788	ENSG00000176788			957	protein-coding gene	gene with protein product		605940				9310187, 9749536	Standard	NM_001271606		Approved	NAP-22, NAP22, CAP23, CAP-23	uc031siz.1	P80723	OTTHUMG00000131061	ENST00000322611.3:c.89C>T	5.37:g.17275414C>T	ENSP00000319281:p.Ala30Val						p.A30V	NM_001271606.1|NM_006317.3	NP_001258535.1|NP_006308.3	P80723	BASP1_HUMAN			2	349	+			30					B4DJA8|D3DTD5|O43596|Q5U0S0|Q9BWA5	Missense_Mutation	SNP	ENST00000322611.3	37	c.89C>T	CCDS3888.1	.	.	.	.	.	.	.	.	.	.	C	4.649	0.120709	0.08881	.	.	ENSG00000176788	ENST00000322611;ENST00000447228	T	0.48836	0.8	4.57	3.69	0.42338	.	0.554781	0.16135	N	0.228009	T	0.24236	0.0587	N	0.14661	0.345	0.09310	N	1	P	0.38597	0.639	B	0.30251	0.113	T	0.06373	-1.0830	10	0.36615	T	0.2	-13.5381	7.0178	0.24897	0.0951:0.36:0.5449:0.0	.	30	P80723	BASP1_HUMAN	V	30	ENSP00000319281:A30V	ENSP00000319281:A30V	A	+	2	0	BASP1	17328414	0.949000	0.32298	0.043000	0.18650	0.193000	0.23685	2.469000	0.45110	0.889000	0.36185	-0.519000	0.04390	GCG		0.632	BASP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253716.2			8	21	0	0	0	1	0	8	21					T	17275414	C	T	17275414	3	4	252	1	0	0	0	0	1	0	0	0	1317	768	27	1	91	1	BASP1	5	17275414	Missense_Mutation	SNP	C	TCGA-HC-A76X-01A-11D-A33T-08		17275414	163639846	12	11808											
BDP1	55814	broad.mit.edu	37	chr5	70856003	70856003	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ataaggaagaaagaactgatGctgctcctaagtctcagcaa	16	8	9	8	0	1	3	1	1	1	2	3	4	2	4	1	1	4	3	1	1	6	2			TCGA-HC-A76X-01A-11D-A33T-08	TCGA-HC-A76X-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d9192ed-c94c-472c-b614-fc31cc044d3b	f337b49f-54b4-4a3f-9b2e-075249ea8f13	g.chr5:70856003G>T	ENST00000358731.4	+	37	7698	c.7435G>T	c.(7435-7437)Gct>Tct	p.A2479S	BDP1_ENST00000380675.2_3'UTR	NM_018429.2	NP_060899.2	A6H8Y1	BDP1_HUMAN	B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB	2479					gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase III promoter (GO:0006383)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)		AAGAACTGATGCTGCTCCTAA	0.413																																						ENST00000358731.4																			0				NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72						c.(7435-7437)Gct>Tct		B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB							105	98	101					5																	70856003		1942	4164	6106	SO:0001583	missense	55814				regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding	g.chr5:70856003G>T	AF298151	CCDS43328.1	5q12-q13	2008-02-05	2001-11-29	2001-11-30	ENSG00000145734	ENSG00000145734			13652	protein-coding gene	gene with protein product		607012	"TATA box binding protein (TBP)-associated factor, RNA polymerase III, GTF3B subunit 1"	TFNR, TAF3B1		11214970, 11040218	Standard	NM_018429		Approved	TFIIIB150, TFC5, TFIIIB90, KIAA1689, HSA238520, KIAA1241	uc003kbp.1	A6H8Y1	OTTHUMG00000162506	ENST00000358731.4:c.7435G>T	5.37:g.70856003G>T	ENSP00000351575:p.Ala2479Ser					BDP1_ENST00000380675.2_3'UTR	p.A2479S	NM_018429.2	NP_060899.2	A6H8Y1	BDP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)	37	7698	+		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)	2479					Q68DS6|Q68DY5|Q6MZL9|Q6PIM7|Q86W98|Q96LR8|Q9C0H4|Q9H197|Q9H1A1|Q9HAW1|Q9HAW2|Q9HCY0|Q9ULH9	Missense_Mutation	SNP	ENST00000358731.4	37	c.7435G>T	CCDS43328.1	.	.	.	.	.	.	.	.	.	.	G	15.31	2.797109	0.50208	.	.	ENSG00000145734	ENST00000358731;ENST00000451951	T	0.06294	3.32	4.89	-0.875	0.10628	.	1.041600	0.07586	N	0.921107	T	0.05547	0.0146	L	0.54323	1.7	0.46631	D	0.999136	B	0.33318	0.408	B	0.28784	0.094	T	0.40327	-0.9569	10	0.40728	T	0.16	.	0.4666	0.00525	0.3097:0.1546:0.3332:0.2025	.	2479	A6H8Y1	BDP1_HUMAN	S	2479;2027	ENSP00000351575:A2479S	ENSP00000351575:A2479S	A	+	1	0	BDP1	70891759	0.139000	0.22563	0.767000	0.31495	0.819000	0.46315	0.198000	0.17217	-0.413000	0.07507	0.585000	0.79938	GCT		0.413	BDP1-016	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000374681.2	NM_018429		3	39	1	0	0.00909568	1	0.00963072	3	39					T	70856003	G	T	70856003	3	4	252	1	0	0	0	0	1	0	0	0	1395	1319	46	5	7581	5	BDP1	5	70856003	Missense_Mutation	SNP	G	TCGA-HC-A76X-01A-11D-A33T-08	53580589	70856003	110059257	13	11809											
PCDHB16	57717	broad.mit.edu	37	chr5	140563062	140563062	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgagaaagcaagtagatttcGaaatggttacgtcttatgaa	15	12	10	4	2	1	3	0	2	1	2	2	5	1	3	0	1	2	3	0	1	7	4			TCGA-HC-A76X-01A-11D-A33T-08	TCGA-HC-A76X-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d9192ed-c94c-472c-b614-fc31cc044d3b	f337b49f-54b4-4a3f-9b2e-075249ea8f13	g.chr5:140563062G>A	ENST00000361016.2	+	1	2083	c.928G>A	c.(928-930)Gaa>Aaa	p.E310K		NM_020957.1	NP_066008.1	Q9NRJ7	PCDBG_HUMAN	protocadherin beta 16	310	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|endometrium(10)|kidney(3)|large_intestine(14)|lung(29)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|urinary_tract(1)	69			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AGTAGATTTCGAAATGGTTAC	0.443																																						ENST00000361016.2																			0				breast(1)|endometrium(10)|kidney(3)|large_intestine(14)|lung(29)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|urinary_tract(1)	69						c.(928-930)Gaa>Aaa									86	94	91					5																	140563062		2202	4300	6502	SO:0001583	missense	0				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140563062G>A	AF217757	CCDS4251.1	5q31	2014-04-11			ENSG00000196963			"Cadherins / Protocadherins : Clustered"	14546	other	protocadherin	"cadherin ME1", "protocadherin-3x", "PCDHbeta 16"	606345				11230163, 11322959	Standard	NM_020957		Approved	PCDHB8a, PCDH3X, KIAA1621, PCDH-BETA16, ME1	uc003liv.3	Q9NRJ7	OTTHUMG00000188325	ENST00000361016.2:c.928G>A	5.37:g.140563062G>A	ENSP00000354293:p.Glu310Lys						p.E310K	NM_020957.1	NP_066008.1	Q9NRJ7	PCDBG_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	2083	+			310			Cadherin 3.		B3KPK5|Q8IYD5|Q96SE9|Q9HCF1	Missense_Mutation	SNP	ENST00000361016.2	37	c.928G>A	CCDS4251.1	.	.	.	.	.	.	.	.	.	.	G	19.46	3.832413	0.71258	.	.	ENSG00000196963	ENST00000361016	T	0.72394	-0.65	4.75	4.75	0.60458	Cadherin (4);Cadherin-like (1);	0.000000	0.35436	N	0.003217	D	0.90010	0.6881	H	0.97340	3.985	0.50313	D	0.999866	D	0.89917	1.0	D	0.97110	1.0	D	0.93933	0.7216	10	0.87932	D	0	.	17.7391	0.88403	0.0:0.0:1.0:0.0	.	310	Q9NRJ7	PCDBG_HUMAN	K	310	ENSP00000354293:E310K	ENSP00000354293:E310K	E	+	1	0	PCDHB16	140543246	1.000000	0.71417	0.815000	0.32552	0.009000	0.06853	9.792000	0.99085	2.169000	0.68431	0.591000	0.81541	GAA		0.443	PCDHB16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251800.1	NM_020957		5	52	0	0	0	1	0	5	52					A	140563062	G	A	140563062	3	1	252	1	0	0	0	0	1	0	0	0	11541	1059	37	2	930	2	PCDHB16	5	140563062	Missense_Mutation	SNP	G	TCGA-HC-A76X-01A-11D-A33T-08	69707059	140563062	40352198	14	11810											
GRIA1	2890	broad.mit.edu	37	chr5	153078545	153078545	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcacgtgggctactcctaccGtctggagattgtcagtgatg	7	11	13	10	2	2	2	1	1	1	1	3	3	3	2	2	2	2	2	2	2	2	3			TCGA-HC-A76X-01A-11D-A33T-08	TCGA-HC-A76X-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d9192ed-c94c-472c-b614-fc31cc044d3b	f337b49f-54b4-4a3f-9b2e-075249ea8f13	g.chr5:153078545G>A	ENST00000285900.5	+	10	1707	c.1364G>A	c.(1363-1365)cGt>cAt	p.R455H	GRIA1_ENST00000518783.1_Missense_Mutation_p.R465H|GRIA1_ENST00000518142.1_Missense_Mutation_p.R375H|GRIA1_ENST00000340592.5_Missense_Mutation_p.R455H|GRIA1_ENST00000521843.2_Missense_Mutation_p.R386H|GRIA1_ENST00000448073.4_Missense_Mutation_p.R465H	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1	455					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|long-term memory (GO:0007616)|receptor internalization (GO:0031623)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|axonal spine (GO:0044308)|cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|dendrite membrane (GO:0032590)|dendritic spine (GO:0043197)|endocytic vesicle membrane (GO:0030666)|endoplasmic reticulum (GO:0005783)|neuron spine (GO:0044309)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|PDZ domain binding (GO:0030165)	p.R455H(1)		NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Perampanel(DB08883)|Sevoflurane(DB01236)	TACTCCTACCGTCTGGAGATT	0.542																																						ENST00000285900.5																			1	Substitution - Missense(1)	p.R455H(1)	prostate(1)	NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81						c.(1363-1365)cGt>cAt		glutamate receptor, ionotropic, AMPA 1	Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)						95	86	89					5																	153078545		2203	4300	6503	SO:0001583	missense	0				synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding	g.chr5:153078545G>A		CCDS4322.1, CCDS47318.1, CCDS58986.1, CCDS58987.1, CCDS58988.1, CCDS58989.1	5q33	2012-08-29			ENSG00000155511	ENSG00000155511		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4571	protein-coding gene	gene with protein product		138248		GLUR1		1652753, 1319477	Standard	NM_000827		Approved	GluA1, GLURA	uc011dcy.2	P42261	OTTHUMG00000130148	ENST00000285900.5:c.1364G>A	5.37:g.153078545G>A	ENSP00000285900:p.Arg455His					GRIA1_ENST00000340592.5_Missense_Mutation_p.R455H|GRIA1_ENST00000448073.4_Missense_Mutation_p.R465H|GRIA1_ENST00000518783.1_Missense_Mutation_p.R465H|GRIA1_ENST00000518142.1_Missense_Mutation_p.R375H|GRIA1_ENST00000521843.2_Missense_Mutation_p.R386H	p.R455H	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		10	1707	+		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	455					B7Z2S0|B7Z2W8|B7Z3F6|B7Z9G9|D3DQI4|E7ESV8|Q2NKM6	Missense_Mutation	SNP	ENST00000285900.5	37	c.1364G>A	CCDS4322.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.045356	0.75846	.	.	ENSG00000155511	ENST00000285900;ENST00000544403;ENST00000518142;ENST00000537037;ENST00000340592;ENST00000521843;ENST00000544794;ENST00000518783;ENST00000448073	T;T;T;T;T;T;T	0.39229	1.67;1.67;1.09;1.67;1.67;1.67;1.09	5.44	4.58	0.56647	Glutamate receptor, L-glutamate/glycine-binding (2);Ionotropic glutamate receptor (1);	0.117144	0.64402	D	0.000015	T	0.42810	0.1219	L	0.37507	1.11	0.40583	D	0.98141	D;D;B;D;P;B	0.54207	0.965;0.965;0.334;0.965;0.897;0.09	P;P;B;P;B;B	0.52109	0.69;0.69;0.105;0.69;0.439;0.042	T	0.43556	-0.9384	10	0.87932	D	0	.	9.5797	0.39479	0.1592:0.0:0.8408:0.0	.	465;465;375;465;455;455	E7ESV8;B7Z9G9;B7Z3F6;B7Z2W8;P42261-2;P42261	.;.;.;.;.;GRIA1_HUMAN	H	455;455;375;409;455;386;386;465;465	ENSP00000285900:R455H;ENSP00000427920:R375H;ENSP00000339343:R455H;ENSP00000427864:R386H;ENSP00000442108:R386H;ENSP00000428994:R465H;ENSP00000415569:R465H	ENSP00000285900:R455H	R	+	2	0	GRIA1	153058738	0.996000	0.38824	1.000000	0.80357	0.993000	0.82548	1.664000	0.37439	1.300000	0.44818	-0.136000	0.14681	CGT		0.542	GRIA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252456.3			11	35	0	0	0	1	0	11	35					A	153078545	G	A	153078545	3	1	252	1	0	0	0	0	1	0	0	0	6767	1145	40	1	1402	1	GRIA1	5	153078545	Missense_Mutation	SNP	G	TCGA-HC-A76X-01A-11D-A33T-08	12515483	153078545	27836715	15	11811											
VARS	7407	broad.mit.edu	37	chr6	31748517	31748517	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cacataatccaaaccggagaGcatcggtgccacattcagga	14	6	9	12	2	1	1	1	0	0	1	3	3	2	2	3	3	3	1	3	3	2	2			TCGA-HC-A76X-01A-11D-A33T-08	TCGA-HC-A76X-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d9192ed-c94c-472c-b614-fc31cc044d3b	f337b49f-54b4-4a3f-9b2e-075249ea8f13	g.chr6:31748517G>C	ENST00000375663.3	-	24	3202	c.2762C>G	c.(2761-2763)gCt>gGt	p.A921G	Y_RNA_ENST00000364685.1_RNA|VARS_ENST00000482996.1_5'UTR	NM_006295.2	NP_006286.1	P26640	SYVC_HUMAN	valyl-tRNA synthetase	921					gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)|valyl-tRNA aminoacylation (GO:0006438)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|valine-tRNA ligase activity (GO:0004832)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	30					L-Valine(DB00161)	AAACCGGAGAGCATCGGTGCC	0.602																																						ENST00000375663.3																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	30						c.(2761-2763)gCt>gGt		valyl-tRNA synthetase	L-Valine(DB00161)						89	83	85					6																	31748517		2203	4300	6503	SO:0001583	missense	7407				translational elongation|valyl-tRNA aminoacylation	cytosol	ATP binding|protein binding|valine-tRNA ligase activity	g.chr6:31748517G>C	BC012808	CCDS34412.1	6p21.3	2011-07-01		2005-07-05	ENSG00000204394	ENSG00000204394	6.1.1.9	"Aminoacyl tRNA synthetases / Class I"	12651	protein-coding gene	gene with protein product	"valine tRNA ligase 1, cytoplasmic"	192150	"valyl-tRNA synthetase 2"	VARS2		15779907	Standard	XM_005249362		Approved		uc003nxe.3	P26640	OTTHUMG00000031286	ENST00000375663.3:c.2762C>G	6.37:g.31748517G>C	ENSP00000364815:p.Ala921Gly					VARS_ENST00000482996.1_5'UTR	p.A921G	NM_006295.2	NP_006286.1	P26640	SYVC_HUMAN			24	3202	-			921					B0V1N1|B4DZ61|Q5JQ90|Q96E77|Q9UQM2	Missense_Mutation	SNP	ENST00000375663.3	37	c.2762C>G	CCDS34412.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	23.1|23.1	4.372662|4.372662	0.82573|0.82573	.|.	.|.	ENSG00000204394|ENSG00000204394	ENST00000375663|ENST00000428445	T|.	0.43294|.	0.95|.	5.09|5.09	5.09|5.09	0.68999|0.68999	Rossmann-like alpha/beta/alpha sandwich fold (1);Aminoacyl-tRNA synthetase, class Ia (1);|.	0.052890|.	0.85682|.	D|.	0.000000|.	T|T	0.76335|0.76335	0.3973|0.3973	M|M	0.86953|0.86953	2.85|2.85	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.97110|.	1.0|.	T|T	0.79122|0.79122	-0.1933|-0.1933	10|5	0.72032|.	D|.	0.01|.	-16.2721|-16.2721	16.0424|16.0424	0.80694|0.80694	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	921|.	P26640|.	SYVC_HUMAN|.	G|W	921|238	ENSP00000364815:A921G|.	ENSP00000364815:A921G|.	A|C	-|-	2|3	0|2	VARS|VARS	31856496|31856496	1.000000|1.000000	0.71417|0.71417	0.985000|0.985000	0.45067|0.45067	0.994000|0.994000	0.84299|0.84299	5.818000|5.818000	0.69236|0.69236	2.653000|2.653000	0.90120|0.90120	0.655000|0.655000	0.94253|0.94253	GCT|TGC		0.602	VARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076619.2	NM_006295		20	32	0	0	0	1	0	20	32					C	31748517	G	C	31748517	3	2	252	1	0	0	0	0	1	0	0	0	17120	971	34	5	1060	5	VARS	6	31748517	Missense_Mutation	SNP	G	TCGA-HC-A76X-01A-11D-A33T-08		31748517	139366550	16	11812											
GUCA1A	2978	broad.mit.edu	37	chr6	42146547	42146547	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttccctcccaggccattcGcgccattaacccctgcagcg	6	9	7	19	3	1	0	0	0	1	0	4	0	3	0	6	1	3	1	6	1	1	3			TCGA-HC-A76X-01A-11D-A33T-08	TCGA-HC-A76X-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d9192ed-c94c-472c-b614-fc31cc044d3b	f337b49f-54b4-4a3f-9b2e-075249ea8f13	g.chr6:42146547G>A	ENST00000394237.1	+	5	1335	c.359G>A	c.(358-360)cGc>cAc	p.R120H	GUCA1A_ENST00000541991.1_Missense_Mutation_p.R120H|GUCA1A_ENST00000053469.4_Missense_Mutation_p.R120H|GUCA1A_ENST00000372958.1_Missense_Mutation_p.R120H			P43080	GUC1A_HUMAN	guanylate cyclase activator 1A (retina)	120	EF-hand 3. {ECO:0000255|PROSITE- ProRule:PRU00448}.				phototransduction, visible light (GO:0007603)|positive regulation of cGMP biosynthetic process (GO:0030828)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|signal transduction (GO:0007165)|visual perception (GO:0007601)	photoreceptor disc membrane (GO:0097381)|photoreceptor inner segment (GO:0001917)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium sensitive guanylate cyclase activator activity (GO:0008048)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)	7	Colorectal(47;0.196)		STAD - Stomach adenocarcinoma(11;5.54e-05)|Epithelial(12;0.000167)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			CAGGCCATTCGCGCCATTAAC	0.587																																						ENST00000394237.1																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)	7						c.(358-360)cGc>cAc		guanylate cyclase activator 1A (retina)							169	167	167					6																	42146547		2203	4300	6503	SO:0001583	missense	2978				signal transduction|visual perception	membrane	calcium ion binding|calcium sensitive guanylate cyclase activator activity	g.chr6:42146547G>A		CCDS4864.1	6p21.1	2013-06-06			ENSG00000048545	ENSG00000048545		"EF-hand domain containing"	4678	protein-coding gene	gene with protein product	"cone dystrophy 3"	600364	"chromosome 6 open reading frame 131"	GUCA, GUCA1, C6orf131		9425234	Standard	NM_000409		Approved	GCAP, GCAP1, COD3, dJ139D8.6, CORD14	uc003orx.3	P43080	OTTHUMG00000014696	ENST00000394237.1:c.359G>A	6.37:g.42146547G>A	ENSP00000377784:p.Arg120His					GUCA1A_ENST00000372958.1_Missense_Mutation_p.R120H|GUCA1A_ENST00000053469.4_Missense_Mutation_p.R120H|GUCA1A_ENST00000541991.1_Missense_Mutation_p.R120H	p.R120H			P43080	GUC1A_HUMAN	STAD - Stomach adenocarcinoma(11;5.54e-05)|Epithelial(12;0.000167)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)		5	1335	+	Colorectal(47;0.196)		120			EF-hand 3.		B3KWT4|Q7Z6T1|Q9NU14	Missense_Mutation	SNP	ENST00000394237.1	37	c.359G>A	CCDS4864.1	.	.	.	.	.	.	.	.	.	.	G	28.4	4.912811	0.92178	.	.	ENSG00000048545	ENST00000541991;ENST00000372965;ENST00000053469;ENST00000394237;ENST00000372958	T;T;T;T	0.71341	-0.56;-0.56;-0.56;-0.56	4.63	4.63	0.57726	EF-hand-like domain (1);	2.531660	0.02769	U	0.119499	T	0.70474	0.3228	L	0.28115	0.83	0.80722	D	1	D	0.63046	0.992	P	0.61397	0.888	T	0.61407	-0.7069	10	0.66056	D	0.02	.	14.9915	0.71393	0.0:0.0:1.0:0.0	.	120	P43080	GUC1A_HUMAN	H	120;124;120;120;120	ENSP00000437476:R120H;ENSP00000053469:R120H;ENSP00000377784:R120H;ENSP00000362049:R120H	ENSP00000053469:R120H	R	+	2	0	GUCA1A	42254525	1.000000	0.71417	0.991000	0.47740	0.965000	0.64279	7.588000	0.82629	2.113000	0.64589	0.561000	0.74099	CGC		0.587	GUCA1A-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316582.1			63	106	0	0	0	1	0	63	106					A	42146547	G	A	42146547	3	1	252	1	0	0	0	0	1	0	0	0	6888	1087	38	1	369	1	GUCA1A	6	42146547	Missense_Mutation	SNP	G	TCGA-HC-A76X-01A-11D-A33T-08	10398030	42146547	128968520	17	11813											
DST	667	broad.mit.edu	37	chr6	56362658	56362658	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttattctcttactcacctggCgcaaggcaccatccagctgc	8	11	7	15	1	2	0	1	0	1	0	4	0	3	0	3	2	3	3	3	2	3	3			TCGA-HC-A76X-01A-11D-A33T-08	TCGA-HC-A76X-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d9192ed-c94c-472c-b614-fc31cc044d3b	f337b49f-54b4-4a3f-9b2e-075249ea8f13	g.chr6:56362658C>T	ENST00000361203.3	-	76	19137	c.19130G>A	c.(19129-19131)cGc>cAc	p.R6377H	DST_ENST00000370788.2_Missense_Mutation_p.R4291H|DST_ENST00000370754.5_Missense_Mutation_p.R6666H|DST_ENST00000421834.2_Missense_Mutation_p.R4400H|DST_ENST00000244364.6_Missense_Mutation_p.R4074H|DST_ENST00000370769.4_Missense_Mutation_p.R6488H|DST_ENST00000340834.4_5'UTR|DST_ENST00000446842.2_Missense_Mutation_p.R6162H|DST_ENST00000312431.6_3'UTR			Q03001	DYST_HUMAN	dystonin	6377					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			ACTCACCTGGCGCAAGGCACC	0.373																																						ENST00000370754.5																			0				NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105						c.(19996-19998)cGc>cAc		dystonin							53	51	51					6																	56362658		1854	4101	5955	SO:0001583	missense	667				cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity	g.chr6:56362658C>T	M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"EF-hand domain containing"	1090	protein-coding gene	gene with protein product		113810	"bullous pemphigoid antigen 1, 230/240kDa"	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000361203.3:c.19130G>A	6.37:g.56362658C>T	ENSP00000354508:p.Arg6377His					DST_ENST00000421834.2_Missense_Mutation_p.R4400H|DST_ENST00000361203.3_Missense_Mutation_p.R6377H|DST_ENST00000312431.6_3'UTR|DST_ENST00000244364.6_Missense_Mutation_p.R4074H|DST_ENST00000340834.4_5'UTR|DST_ENST00000370788.2_Missense_Mutation_p.R4291H|DST_ENST00000446842.2_Missense_Mutation_p.R6162H|DST_ENST00000370769.4_Missense_Mutation_p.R6488H	p.R6666H			Q03001	DYST_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)		81	19996	-	Lung NSC(77;0.103)		6486					B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Missense_Mutation	SNP	ENST00000361203.3	37	c.19997G>A		.	.	.	.	.	.	.	.	.	.	C	12.75	2.030278	0.35797	.	.	ENSG00000151914	ENST00000244364;ENST00000370754;ENST00000370769;ENST00000421834;ENST00000446842;ENST00000370788;ENST00000361203	T;T;T;T;T;T;T	0.63580	1.07;-0.03;-0.02;0.05;0.92;-0.01;-0.05	5.8	1.44	0.22558	.	0.548872	0.16671	N	0.204348	T	0.44953	0.1318	L	0.29908	0.895	0.28551	N	0.911612	D;B;B;B;B	0.65815	0.995;0.048;0.023;0.002;0.051	P;B;B;B;B	0.61201	0.885;0.035;0.009;0.003;0.013	T	0.40384	-0.9566	9	0.49607	T	0.09	.	3.8828	0.09085	0.33:0.3812:0.0:0.2887	.	4400;6488;6666;6486;4074	Q5TBT1;E7ERU2;E9PEB9;Q03001;Q03001-8	.;.;.;DYST_HUMAN;.	H	4074;6666;6488;4400;6162;4291;6377	ENSP00000244364:R4074H;ENSP00000359790:R6666H;ENSP00000359805:R6488H;ENSP00000400883:R4400H;ENSP00000393645:R6162H;ENSP00000359824:R4291H;ENSP00000354508:R6377H	ENSP00000244364:R4074H	R	-	2	0	DST	56470617	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.368000	0.59505	0.745000	0.32763	0.591000	0.81541	CGC		0.373	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000041021.3	NM_001723		5	15	0	0	0	1	0	5	15					T	56362658	C	T	56362658	3	4	252	1	0	0	0	0	1	0	0	0	4783	768	27	1	3386	1	DST	6	56362658	Missense_Mutation	SNP	C	TCGA-HC-A76X-01A-11D-A33T-08	14216111	56362658	114752409	18	11814											
GABRR2	2570	broad.mit.edu	37	chr6	90024832	90024832	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttgggttttctgctctccAcgagaaccatcaagcaaaac	11	11	7	12	1	4	1	1	0	3	1	5	2	4	1	2	1	4	3	2	1	4	3			TCGA-HC-A76X-01A-11D-A33T-08	TCGA-HC-A76X-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d9192ed-c94c-472c-b614-fc31cc044d3b	f337b49f-54b4-4a3f-9b2e-075249ea8f13	g.chr6:90024832A>C	ENST00000402938.3	-	1	186	c.53T>G	c.(52-54)gTg>gGg	p.V18G	GABRR2_ENST00000602808.1_5'UTR|GABRR2_ENST00000602399.1_Missense_Mutation_p.V43G	NM_002043.3	NP_002034.3	P28476	GBRR2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, rho 2	18					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(10)|prostate(2)|urinary_tract(1)	21		all_cancers(76;1.67e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.77e-07)|all_epithelial(107;2.51e-05)|Lung NSC(302;0.238)		BRCA - Breast invasive adenocarcinoma(108;0.0158)	Adinazolam(DB00546)|Bromazepam(DB01558)|Cinolazepam(DB01594)|Clotiazepam(DB01559)|Diazepam(DB00829)|Estazolam(DB01215)|Fludiazepam(DB01567)|Flurazepam(DB00690)|Halazepam(DB00801)|Midazolam(DB00683)|Nitrazepam(DB01595)|Oxazepam(DB00842)|Prazepam(DB01588)|Quazepam(DB01589)|Temazepam(DB00231)|Triazolam(DB00897)	TCTGCTCTCCACGAGAACCAT	0.478																																						ENST00000402938.3																			0				central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(10)|prostate(2)|urinary_tract(1)	21						c.(52-54)gTg>gGg		gamma-aminobutyric acid (GABA) A receptor, rho 2							235	236	236					6																	90024832		2203	4300	6503	SO:0001583	missense	2570				synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chr6:90024832A>C		CCDS5020.2, CCDS5020.3	6q15	2012-06-22	2012-02-03		ENSG00000111886	ENSG00000111886		"GABA receptors", "Ligand-gated ion channels / GABA(A) receptors"	4091	protein-coding gene	gene with protein product	"GABA(A) receptor, rho 2"	137162	"gamma-aminobutyric acid (GABA) receptor, rho 2"			1315307	Standard	NM_002043		Approved		uc003pnb.3	P28476	OTTHUMG00000015198	ENST00000402938.3:c.53T>G	6.37:g.90024832A>C	ENSP00000386029:p.Val18Gly					GABRR2_ENST00000602399.1_Missense_Mutation_p.V43G|GABRR2_ENST00000602808.1_5'UTR	p.V18G			P28476	GBRR2_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0158)	1	186	-		all_cancers(76;1.67e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.77e-07)|all_epithelial(107;2.51e-05)|Lung NSC(302;0.238)	43					A2BDE4|Q9H153	Missense_Mutation	SNP	ENST00000402938.3	37	c.53T>G	CCDS5020.3	.	.	.	.	.	.	.	.	.	.	A	9.498	1.102581	0.20632	.	.	ENSG00000111886	ENST00000402938	.	.	.	5.52	1.61	0.23674	.	0.167881	0.38164	N	0.001781	T	0.14056	0.0340	N	0.24115	0.695	0.53688	D	0.999974	B	0.02656	0.0	B	0.01281	0.0	T	0.06826	-1.0805	8	.	.	.	.	4.9728	0.14125	0.625:0.1462:0.2289:0.0	.	43	P28476	GBRR2_HUMAN	G	43	.	.	V	-	2	0	GABRR2	90081551	1.000000	0.71417	0.998000	0.56505	0.940000	0.58332	1.422000	0.34826	0.384000	0.24942	-0.290000	0.09829	GTG		0.478	GABRR2-001	KNOWN	upstream_ATG|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000041482.3			5	159	0	0	0	1	0	5	159					C	90024832	A	C	90024832	3	2	252	1	0	0	0	0	1	0	0	0	6177	159	6	5	1380	5	GABRR2	6	90024832	Missense_Mutation	SNP	A	TCGA-HC-A76X-01A-11D-A33T-08	33662174	90024832	81090235	19	11815											
ABCB4	5244	broad.mit.edu	37	chr7	87037488	87037488	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agcccctgaagcactggcacGtttgctcgggtgggatagtt	7	10	14	10	2	0	1	0	1	0	0	1	2	0	2	2	3	3	5	2	3	2	3	rs8187807		TCGA-HC-A76X-01A-11D-A33T-08	TCGA-HC-A76X-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d9192ed-c94c-472c-b614-fc31cc044d3b	f337b49f-54b4-4a3f-9b2e-075249ea8f13	g.chr7:87037488G>A	ENST00000265723.4	-	25	3255	c.3144C>T	c.(3142-3144)aaC>aaT	p.N1048N	ABCB4_ENST00000358400.3_Silent_p.N1001N|ABCB4_ENST00000359206.3_Silent_p.N1048N|ABCB4_ENST00000545634.1_Silent_p.N1048N|ABCB4_ENST00000453593.1_Silent_p.N1001N	NM_000443.3|NM_018849.2	NP_000434.1|NP_061337.1	P21439	MDR3_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 4	1048	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				cellular lipid metabolic process (GO:0044255)|lipid metabolic process (GO:0006629)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intercellular canaliculus (GO:0046581)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|xenobiotic-transporting ATPase activity (GO:0008559)			breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)				Colchicine(DB01394)|Etravirine(DB06414)|Silodosin(DB06207)	GCACTGGCACGTTTGCTCGGG	0.478													G|||	1	0.000199681	0	0	5008	,	,		18210	0.001		0	False		,,,				2504	0					ENST00000265723.4																			0				breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77						c.(3142-3144)aaC>aaT		ATP-binding cassette, sub-family B (MDR/TAP), member 4							80	79	79					7																	87037488		2203	4300	6503	SO:0001819	synonymous_variant	5244				cellular lipid metabolic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|xenobiotic-transporting ATPase activity	g.chr7:87037488G>A	M23234	CCDS5605.1, CCDS5606.1, CCDS5607.1	7q21	2012-03-14			ENSG00000005471	ENSG00000005471		"ATP binding cassette transporters / subfamily B"	45	protein-coding gene	gene with protein product		171060		PGY3, MDR3		2892668, 11313316	Standard	NM_018850		Approved	MDR2, PFIC-3, GBD1	uc003uiv.1	P21439	OTTHUMG00000023396	ENST00000265723.4:c.3144C>T	7.37:g.87037488G>A						ABCB4_ENST00000359206.3_Silent_p.N1048N|ABCB4_ENST00000358400.3_Silent_p.N1001N|ABCB4_ENST00000545634.1_Silent_p.N1048N|ABCB4_ENST00000453593.1_Silent_p.N1001N	p.N1048N	NM_000443.3|NM_018849.2	NP_000434.1|NP_061337.1	P21439	MDR3_HUMAN			25	3255	-	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)		1048			ABC transporter 2.		A0A2V7|A4D1D3|A4D1D4|A4D1D5|D6W5P3|D6W5P4|Q14813	Silent	SNP	ENST00000265723.4	37	c.3144C>T	CCDS5606.1																																																																																				0.478	ABCB4-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000336083.1	NM_000443		3	63	0	0	0	1	0	3	63					A	87037488	G	A	87037488	2	1	252	1	0	0	0	0	0	0	0	1	43	1136	40	1		1	ABCB4	7	87037488	Silent	SNP	G	TCGA-HC-A76X-01A-11D-A33T-08		87037488	72101175	20	11816											
PCOLCE	5118	broad.mit.edu	37	chr7	100205618	100205618	+	Frame_Shift_Del	DEL	A	A	-																															agaggccccgtccttcctccAgagagctttgtggttctcca																										TCGA-HC-A76X-01A-11D-A33T-08	TCGA-HC-A76X-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d9192ed-c94c-472c-b614-fc31cc044d3b	f337b49f-54b4-4a3f-9b2e-075249ea8f13	g.chr7:100205618delA	ENST00000223061.5	+	9	1522	c.1242delA	c.(1240-1242)ccafs	p.P414fs		NM_002593.3	NP_002584.2	Q15113	PCOC1_HUMAN	procollagen C-endopeptidase enhancer	414	NTR. {ECO:0000255|PROSITE- ProRule:PRU00295}.				multicellular organismal development (GO:0007275)|positive regulation of peptidase activity (GO:0010952)|proteolysis (GO:0006508)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	collagen binding (GO:0005518)|heparin binding (GO:0008201)|peptidase activator activity (GO:0016504)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	23	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					TCCTTCCTCCAGAGAGCTTTG	0.567																																						ENST00000223061.5																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	23						c.(1240-1242)ccfs		procollagen C-endopeptidase enhancer							76	78	77					7																	100205618		2203	4300	6503	SO:0001589	frameshift_variant	5118				multicellular organismal development	extracellular space	collagen binding|heparin binding|peptidase activator activity	g.chr7:100205618delA	L33799	CCDS5700.1	7q22	2008-07-18			ENSG00000106333	ENSG00000106333			8738	protein-coding gene	gene with protein product	"procollagen, type 1, COOH-terminal proteinase enhancer", "procollagen C-proteinase enhancer 1"	600270				8824813, 9799793	Standard	NM_002593		Approved	PCPE, PCPE1	uc003uvo.3	Q15113	OTTHUMG00000156675	ENST00000223061.5:c.1242delA	7.37:g.100205618delA	ENSP00000223061:p.Pro414fs						p.P414fs	NM_002593.3	NP_002584.2	Q15113	PCOC1_HUMAN			9	1522	+	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)		414			NTR.		B2R9E1|O14550	Frame_Shift_Del	DEL	ENST00000223061.5	37	c.1242delA	CCDS5700.1																																																																																				0.567	PCOLCE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345285.1	NM_002593		30	49						30	49	---	---	---	---	-	100205618	A	-	100205618	7	5	252	1	0	1	0	1	0	0	0	0	11594	175	7	0	1276	0	PCOLCE	7	100205618	Frame_Shift_Del	DEL	A	TCGA-HC-A76X-01A-11D-A33T-08	13168130	100205618	58933045	21	11817											
VPS13B	157680	broad.mit.edu	37	chr8	100182325	100182325	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagtggatcttactgcttacCtgtaccagttattccctctt	7	16	6	12	0	2	0	0	0	2	0	3	1	3	1	3	1	4	3	3	1	4	6			TCGA-HC-A76X-01A-11D-A33T-08	TCGA-HC-A76X-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d9192ed-c94c-472c-b614-fc31cc044d3b	f337b49f-54b4-4a3f-9b2e-075249ea8f13	g.chr8:100182325C>T	ENST00000358544.2	+	16	2378	c.2267C>T	c.(2266-2268)cCt>cTt	p.P756L	VPS13B_ENST00000395996.1_Missense_Mutation_p.P756L|VPS13B_ENST00000355155.1_Missense_Mutation_p.P756L|VPS13B_ENST00000357162.2_Missense_Mutation_p.P756L|VPS13B_ENST00000521932.1_3'UTR	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	756					protein transport (GO:0015031)					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			TACTGCTTACCTGTACCAGTT	0.393																																					Colon(161;2205 2542 7338 31318)	ENST00000395996.1																			0				NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193						c.(2266-2268)cCt>cTt		vacuolar protein sorting 13 homolog B (yeast)							184	159	167					8																	100182325		2203	4300	6503	SO:0001583	missense	157680				protein transport			g.chr8:100182325C>T	AJ608772	CCDS6280.1, CCDS6281.1, CCDS6283.1, CCDS47903.1	8q22-q23	2014-09-17	2006-12-19	2005-04-08	ENSG00000132549	ENSG00000132549			2183	protein-coding gene	gene with protein product		607817	"Cohen syndrome 1"	CHS1, COH1		7920642, 15498460	Standard	NM_181661		Approved		uc003yiv.4	Q7Z7G8	OTTHUMG00000140383	ENST00000358544.2:c.2267C>T	8.37:g.100182325C>T	ENSP00000351346:p.Pro756Leu					VPS13B_ENST00000355155.1_Missense_Mutation_p.P756L|VPS13B_ENST00000521932.1_3'UTR|VPS13B_ENST00000358544.2_Missense_Mutation_p.P756L|VPS13B_ENST00000357162.2_Missense_Mutation_p.P756L	p.P756L			Q7Z7G8	VP13B_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.00636)		16	2378	+	Breast(36;3.73e-07)		756					C9JD30|Q709C6|Q709C7|Q7Z7G4|Q7Z7G5|Q7Z7G6|Q7Z7G7|Q8NB77|Q9NWV1|Q9Y4E7	Missense_Mutation	SNP	ENST00000358544.2	37	c.2267C>T	CCDS6280.1	.	.	.	.	.	.	.	.	.	.	C	13.94	2.385691	0.42308	.	.	ENSG00000132549	ENST00000355155;ENST00000357162;ENST00000358544;ENST00000395996	T;T;T;T	0.80123	-1.34;-0.56;-0.56;-0.33	5.47	5.47	0.80525	.	0.085531	0.50627	D	0.000108	T	0.65893	0.2735	N	0.19112	0.55	0.54753	D	0.999986	B;B;B;B;B	0.28419	0.112;0.211;0.012;0.01;0.01	B;B;B;B;B	0.22601	0.029;0.04;0.006;0.006;0.006	T	0.62388	-0.6865	10	0.12766	T	0.61	.	14.5231	0.67867	0.1466:0.8534:0.0:0.0	.	756;756;756;756;756	Q7Z7G8-6;Q7Z7G8-2;Q7Z7G8;Q7Z7G8-3;Q7Z7G8-4	.;.;VP13B_HUMAN;.;.	L	756	ENSP00000347281:P756L;ENSP00000349685:P756L;ENSP00000351346:P756L;ENSP00000379318:P756L	ENSP00000347281:P756L	P	+	2	0	VPS13B	100251501	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	3.326000	0.52037	2.722000	0.93159	0.557000	0.71058	CCT		0.393	VPS13B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000277138.1	NM_184042		8	45	0	0	0	1	0	8	45					T	100182325	C	T	100182325	3	4	252	1	0	0	0	0	1	0	0	0	17187	681	24	3	2367	3	VPS13B	8	100182325	Missense_Mutation	SNP	C	TCGA-HC-A76X-01A-11D-A33T-08		100182325	46181697	22	11818											
GALNT12	79695	broad.mit.edu	37	chr9	101611319	101611319	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cagtttcgttccactcttacGagactgcaccaactcggatc	9	11	7	14	3	1	1	0	0	1	1	5	3	2	2	2	1	3	3	2	1	2	3			TCGA-HC-A76X-01A-11D-A33T-08	TCGA-HC-A76X-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d9192ed-c94c-472c-b614-fc31cc044d3b	f337b49f-54b4-4a3f-9b2e-075249ea8f13	g.chr9:101611319G>A	ENST00000375011.3	+	10	1691	c.1691G>A	c.(1690-1692)cGa>cAa	p.R564Q	GALNT12_ENST00000470473.1_3'UTR|RP11-92C4.3_ENST00000589257.1_RNA|RP11-92C4.3_ENST00000433997.1_RNA	NM_024642.4	NP_078918.3	Q8IXK2	GLT12_HUMAN	polypeptide N-acetylgalactosaminyltransferase 12	564	Ricin B-type lectin. {ECO:0000255|PROSITE-ProRule:PRU00174}.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			breast(1)|endometrium(2)|large_intestine(3)|lung(8)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	17		Acute lymphoblastic leukemia(62;0.0559)				CCACTCTTACGAGACTGCACC	0.473											OREG0019361	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000375011.3																			0				breast(1)|endometrium(2)|large_intestine(3)|lung(8)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	17						c.(1690-1692)cGa>cAa		UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 12 (GalNAc-T12)							122	110	114					9																	101611319		2203	4300	6503	SO:0001583	missense	79695					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr9:101611319G>A	AB078146	CCDS6737.1	9q22.33	2014-03-13	2014-03-13		ENSG00000119514	ENSG00000119514	2.4.1.41	"Glycosyltransferase family 2 domain containing"	19877	protein-coding gene	gene with protein product	"polypeptide GalNAc transferase 12"	610290	"UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 12 (GalNAc-T12)"			12135769	Standard	NM_024642		Approved	GalNAc-T12	uc004ayz.3	Q8IXK2	OTTHUMG00000020348	ENST00000375011.3:c.1691G>A	9.37:g.101611319G>A	ENSP00000364150:p.Arg564Gln		OREG0019361	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1360	GALNT12_ENST00000470473.1_3'UTR|RP11-92C4.3_ENST00000433997.1_RNA|RP11-92C4.3_ENST00000589257.1_RNA	p.R564Q	NM_024642.4	NP_078918.3	Q8IXK2	GLT12_HUMAN			10	1691	+		Acute lymphoblastic leukemia(62;0.0559)	564			Ricin B-type lectin.		Q5TCF7|Q8NG54|Q96CT9|Q9H771	Missense_Mutation	SNP	ENST00000375011.3	37	c.1691G>A	CCDS6737.1	.	.	.	.	.	.	.	.	.	.	G	13.84	2.355887	0.41700	.	.	ENSG00000119514	ENST00000375011	T	0.28069	1.63	5.75	4.86	0.63082	Ricin B-related lectin (1);Ricin B lectin (3);	0.072344	0.64402	D	0.000015	T	0.28400	0.0702	M	0.76170	2.325	0.34408	D	0.696099	P	0.38863	0.65	B	0.30716	0.119	T	0.43893	-0.9363	10	0.20046	T	0.44	.	10.7171	0.46019	0.0872:0.0:0.9128:0.0	.	564	Q8IXK2	GLT12_HUMAN	Q	564	ENSP00000364150:R564Q	ENSP00000364150:R564Q	R	+	2	0	GALNT12	100651140	1.000000	0.71417	0.780000	0.31762	0.525000	0.34531	5.447000	0.66606	1.445000	0.47624	-0.136000	0.14681	CGA		0.473	GALNT12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053382.1	NM_024642		24	26	0	0	0	1	0	24	26					A	101611319	G	A	101611319	3	1	252	1	0	0	0	0	1	0	0	0	6210	1058	37	2	1729	2	GALNT12	9	101611319	Missense_Mutation	SNP	G	TCGA-HC-A76X-01A-11D-A33T-08		101611319	39602112	23	11819											
CYP2C19	1557	broad.mit.edu	37	chr10	96535189	96535189	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gagatggaaggagatccggcGtttctccctcatgacgctgc	8	9	13	11	3	2	3	1	1	1	2	4	6	3	4	2	3	1	2	2	3	1	1	rs141774245	byFrequency	TCGA-HC-A76X-01A-11D-A33T-08	TCGA-HC-A76X-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d9192ed-c94c-472c-b614-fc31cc044d3b	f337b49f-54b4-4a3f-9b2e-075249ea8f13	g.chr10:96535189G>A	ENST00000371321.3	+	3	456	c.374G>A	c.(373-375)cGt>cAt	p.R125H	CYP2C19_ENST00000464755.1_3'UTR	NM_000769.1	NP_000760	P33261	CP2CJ_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 19	125					arachidonic acid metabolic process (GO:0019369)|drug metabolic process (GO:0017144)|epoxygenase P450 pathway (GO:0019373)|exogenous drug catabolic process (GO:0042738)|heterocycle metabolic process (GO:0046483)|monoterpenoid metabolic process (GO:0016098)|omega-hydroxylase P450 pathway (GO:0097267)|oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)	(R)-limonene 6-monooxygenase activity (GO:0052741)|(S)-limonene 6-monooxygenase activity (GO:0018675)|(S)-limonene 7-monooxygenase activity (GO:0018676)|enzyme binding (GO:0019899)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity (GO:0016491)|oxygen binding (GO:0019825)|steroid hydroxylase activity (GO:0008395)	p.R125H(1)		central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	43		Colorectal(252;0.09)		all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838)	Acenocoumarol(DB01418)|Acetylsalicylic acid(DB00945)|Adinazolam(DB00546)|Almotriptan(DB00918)|Aminoglutethimide(DB00357)|Aminophenazone(DB01424)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Amprenavir(DB00701)|Antipyrine(DB01435)|Apixaban(DB06605)|Aprepitant(DB00673)|Arformoterol(DB01274)|Artemether(DB06697)|Atomoxetine(DB00289)|Atorvastatin(DB01076)|Axitinib(DB06626)|Azelastine(DB00972)|Benzatropine(DB00245)|Bicalutamide(DB01128)|Bifonazole(DB04794)|Bortezomib(DB00188)|Bromazepam(DB01558)|Brompheniramine(DB00835)|Bupivacaine(DB00297)|Buprenorphine(DB00921)|Carbamazepine(DB00564)|Carbinoxamine(DB00748)|Carisoprodol(DB00395)|Chloramphenicol(DB00446)|Chlorpropamide(DB00672)|Cholecalciferol(DB00169)|Cilostazol(DB01166)|Cimetidine(DB00501)|Cisapride(DB00604)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clevidipine(DB04920)|Clobazam(DB00349)|Clomipramine(DB01242)|Clopidogrel(DB00758)|Clotiazepam(DB01559)|Clotrimazole(DB00257)|Clozapine(DB00363)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dapsone(DB00250)|Delavirdine(DB00705)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexamethasone(DB01234)|Dexfenfluramine(DB01191)|Dextromethorphan(DB00514)|Diazepam(DB00829)|Diclofenac(DB00586)|Diltiazem(DB00343)|Dimethyl sulfoxide(DB01093)|Diphenhydramine(DB01075)|Dopamine(DB00988)|Doxazosin(DB00590)|Doxepin(DB01142)|Dronabinol(DB00470)|Efavirenz(DB00625)|Eletriptan(DB00216)|Enfuvirtide(DB00109)|Enzalutamide(DB08899)|Escitalopram(DB01175)|Esomeprazole(DB00736)|Estradiol(DB00783)|Ethanol(DB00898)|Ethotoin(DB00754)|Etoricoxib(DB01628)|Etravirine(DB06414)|Famotidine(DB00927)|Felbamate(DB00949)|Fluconazole(DB00196)|Flunitrazepam(DB01544)|Fluoxetine(DB00472)|Flutamide(DB00499)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Gefitinib(DB00317)|Gemfibrozil(DB01241)|Gliclazide(DB01120)|Glucosamine(DB01296)|Glyburide(DB01016)|Guanfacine(DB01018)|Haloperidol(DB00502)|Hexobarbital(DB01355)|Ibuprofen(DB01050)|Ifosfamide(DB01181)|Imatinib(DB00619)|Imipramine(DB00458)|Indinavir(DB00224)|Indomethacin(DB00328)|Isoniazid(DB00951)|Ketobemidone(DB06738)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Levomilnacipran(DB08918)|Lopinavir(DB01601)|Loratadine(DB00455)|Lorcaserin(DB04871)|Losartan(DB00678)|Lovastatin(DB00227)|LULICONAZOLE(DB08933)|Lumiracoxib(DB01283)|MACITENTAN(DB08932)|Melatonin(DB01065)|Memantine(DB01043)|Meprobamate(DB00371)|Methadone(DB00333)|Methazolamide(DB00703)|Methimazole(DB00763)|Methsuximide(DB05246)|Methylphenobarbital(DB00849)|Metoprolol(DB00264)|Miconazole(DB01110)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nicotine(DB00184)|Nilutamide(DB00665)|Nilvadipine(DB06712)|Norethindrone(DB00717)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Omeprazole(DB00338)|Ospemifene(DB04938)|Oxcarbazepine(DB00776)|Oxiconazole(DB00239)|Pantoprazole(DB00213)|Pegvisomant(DB00082)|Pentamidine(DB00738)|Pentobarbital(DB00312)|Perphenazine(DB00850)|Pethidine(DB00454)|Phenelzine(DB00780)|Phenobarbital(DB01174)|Phensuximide(DB00832)|Phenytoin(DB00252)|Pimozide(DB01100)|Pioglitazone(DB01132)|Pipotiazine(DB01621)|Podofilox(DB01179)|Prasugrel(DB06209)|Praziquantel(DB01058)|Prednisone(DB00635)|Primidone(DB00794)|Probenecid(DB01032)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Propofol(DB00818)|Propranolol(DB00571)|Quazepam(DB01589)|Quetiapine(DB01224)|Quinine(DB00468)|Rabeprazole(DB01129)|Ramelteon(DB00980)|Ranitidine(DB00863)|Regorafenib(DB08896)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Selegiline(DB01037)|Sertraline(DB01104)|Sildenafil(DB00203)|Simvastatin(DB00641)|Sitaxentan(DB06268)|Sorafenib(DB00398)|Sulfanilamide(DB00259)|Tamoxifen(DB00675)|Tapentadol(DB06204)|Telmisartan(DB00966)|Temazepam(DB00231)|Teniposide(DB00444)|Terbinafine(DB00857)|Testosterone(DB00624)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Timolol(DB00373)|Tioconazole(DB01007)|Tipranavir(DB00932)|Tofacitinib(DB08895)|Tolbutamide(DB01124)|Tolterodine(DB01036)|Topiramate(DB00273)|Torasemide(DB00214)|Trabectedin(DB05109)|Tranylcypromine(DB00752)|Trimethadione(DB00347)|Trimipramine(DB00726)|Troleandomycin(DB01361)|Valproic Acid(DB00313)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vismodegib(DB08828)|Voriconazole(DB00582)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zidovudine(DB00495)|Zolpidem(DB00425)|Zonisamide(DB00909)	GAGATCCGGCGTTTCTCCCTC	0.507																																						ENST00000371321.3																			1	Substitution - Missense(1)	p.R125H(1)	endometrium(1)	central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	43						c.(373-375)cGt>cAt		cytochrome P450, family 2, subfamily C, polypeptide 19	Adinazolam(DB00546)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Arformoterol(DB01274)|Bortezomib(DB00188)|Carisoprodol(DB00395)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Desipramine(DB01151)|Desloratadine(DB00967)|Diclofenac(DB00586)|Diltiazem(DB00343)|Efavirenz(DB00625)|Esomeprazole(DB00736)|Famotidine(DB00927)|Felbamate(DB00949)|Finasteride(DB01216)|Flunitrazepam(DB01544)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Guanfacine(DB01018)|Imipramine(DB00458)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Loratadine(DB00455)|Melatonin(DB01065)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nilutamide(DB00665)|Norgestrel(DB00506)|Omeprazole(DB00338)|Oxcarbazepine(DB00776)|Pantoprazole(DB00213)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Quinidine(DB00908)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Temazepam(DB00231)|Teniposide(DB00444)|Terfenadine(DB00342)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tolbutamide(DB01124)|Topiramate(DB00273)|Tranylcypromine(DB00752)|Troglitazone(DB00197)|Troleandomycin(DB01361)|Voriconazole(DB00582)	G	HIS/ARG	0,4406		0,0,2203	142	132	136		374	3.9	0	10	dbSNP_134	136	7,8593	5.0+/-18.6	0,7,4293	no	missense	CYP2C19	NM_000769.1	29	0,7,6496	AA,AG,GG		0.0814,0.0,0.0538	possibly-damaging	125/491	96535189	7,12999	2203	4300	6503	SO:0001583	missense	1557				exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding|steroid hydroxylase activity	g.chr10:96535189G>A	M61854	CCDS7436.1	10q24	2007-12-14	2003-01-14		ENSG00000165841	ENSG00000165841		"Cytochrome P450s"	2621	protein-coding gene	gene with protein product		124020	"cytochrome P450, subfamily IIC (mephenytoin 4-hydroxylase), polypeptide 19"	CYP2C		2009263, 8530044	Standard	NM_000769		Approved	P450IIC19, CPCJ	uc010qnz.2	P33261	OTTHUMG00000018799	ENST00000371321.3:c.374G>A	10.37:g.96535189G>A	ENSP00000360372:p.Arg125His					CYP2C19_ENST00000464755.1_3'UTR	p.R125H	NM_000769.1	NP_000760.1	P33261	CP2CJ_HUMAN		all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838)	3	456	+		Colorectal(252;0.09)	125					P33259|Q8WZB1|Q8WZB2|Q9UCD4	Missense_Mutation	SNP	ENST00000371321.3	37	c.374G>A	CCDS7436.1	.	.	.	.	.	.	.	.	.	.	G	30	5.055875	0.93793	0.0	8.14E-4	ENSG00000165841	ENST00000371321	T	0.15603	2.41	3.9	3.9	0.45041	.	0.000000	0.64402	U	0.000003	T	0.28167	0.0695	M	0.88450	2.955	0.36709	D	0.880548	P	0.47604	0.898	B	0.40677	0.337	T	0.54629	-0.8265	10	0.56958	D	0.05	.	13.7827	0.63091	0.0:0.0:1.0:0.0	.	125	P33261	CP2CJ_HUMAN	H	125	ENSP00000360372:R125H	ENSP00000360372:R125H	R	+	2	0	CYP2C19	96525179	0.075000	0.21258	0.004000	0.12327	0.777000	0.43975	2.426000	0.44731	1.888000	0.54679	0.405000	0.27470	CGT		0.507	CYP2C19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049490.1	NM_000769		4	110	0	0	0	1	0	4	110					A	96535189	G	A	96535189	3	1	252	1	0	0	0	0	1	0	0	0	4166	1145	40	1	384	1	CYP2C19	10	96535189	Missense_Mutation	SNP	G	TCGA-HC-A76X-01A-11D-A33T-08		96535189	38999558	24	11820											
QSER1	79832	broad.mit.edu	37	chr11	32994952	32994952	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	ttgttttccagaatgctttgGaaagttttcctgaactaaca	11	16	7	7	0	0	2	0	1	0	1	2	3	2	3	2	1	3	3	2	1	4	7			TCGA-HC-A76X-01A-11D-A33T-08	TCGA-HC-A76X-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d9192ed-c94c-472c-b614-fc31cc044d3b	f337b49f-54b4-4a3f-9b2e-075249ea8f13	g.chr11:32994952G>C	ENST00000399302.2	+	11	5163	c.4828G>C	c.(4828-4830)Gaa>Caa	p.E1610Q	QSER1_ENST00000527788.1_Missense_Mutation_p.E1371Q	NM_001076786.1	NP_001070254.1	Q2KHR3	QSER1_HUMAN	glutamine and serine rich 1	1610										breast(5)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	48	Breast(20;0.158)					GAATGCTTTGGAAAGTTTTCC	0.328																																						ENST00000399302.2																			0				breast(5)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	48						c.(4828-4830)Gaa>Caa		glutamine and serine rich 1							94	89	91					11																	32994952		1819	4074	5893	SO:0001583	missense	79832							g.chr11:32994952G>C	AL834141	CCDS41631.1	11p13	2014-02-12			ENSG00000060749	ENSG00000060749			26154	protein-coding gene	gene with protein product							Standard	XM_006718323		Approved	FLJ21924	uc001mty.3	Q2KHR3		ENST00000399302.2:c.4828G>C	11.37:g.32994952G>C	ENSP00000382241:p.Glu1610Gln					QSER1_ENST00000527788.1_Missense_Mutation_p.E1371Q	p.E1610Q	NM_001076786.1	NP_001070254.1	Q2KHR3	QSER1_HUMAN			11	5163	+	Breast(20;0.158)		1610					Q6ZU30|Q6ZUR5	Missense_Mutation	SNP	ENST00000399302.2	37	c.4828G>C	CCDS41631.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	25.8|25.8	4.679463|4.679463	0.88542|0.88542	.|.	.|.	ENSG00000060749|ENSG00000060749	ENST00000399302;ENST00000527788|ENST00000524678	T;T|.	0.46451|.	0.87;0.87|.	5.53|5.53	5.53|5.53	0.82687|0.82687	.|.	0.000000|.	0.42294|.	U|.	0.000734|.	T|T	0.70710|0.70710	0.3255|0.3255	L|L	0.51422|0.51422	1.61|1.61	0.52501|0.52501	D|D	0.999956|0.999956	D;D|.	0.67145|.	0.996;0.984|.	D;P|.	0.64144|.	0.922;0.8|.	T|T	0.66634|0.66634	-0.5874|-0.5874	10|5	0.52906|.	T|.	0.07|.	.|.	19.4448|19.4448	0.94843|0.94843	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	1371;1610|.	Q2KHR3-2;Q2KHR3|.	.;QSER1_HUMAN|.	Q|C	1610;1371|630	ENSP00000382241:E1610Q;ENSP00000432766:E1371Q|.	ENSP00000382241:E1610Q|.	E|W	+|+	1|3	0|0	QSER1|QSER1	32951528|32951528	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	8.585000|8.585000	0.90802|0.90802	2.604000|2.604000	0.88044|0.88044	0.655000|0.655000	0.94253|0.94253	GAA|TGG		0.328	QSER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388448.1	NM_024774		18	44	0	0	0	1	0	18	44					C	32994952	G	C	32994952	3	2	252	1	0	0	0	0	1	0	0	0	12882	1175	41	5	4862	5	QSER1	11	32994952	Missense_Mutation	SNP	G	TCGA-HC-A76X-01A-11D-A33T-08		32994952	102011564	25	11821											
CPSF7	79869	broad.mit.edu	37	chr11	61178492	61178492	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttggaaataatcatcatgccGatcttcattatgaagcagat	14	13	7	7	1	4	2	3	1	1	1	4	4	4	3	1	1	2	1	1	1	4	4			TCGA-HC-A76X-01A-11D-A33T-08	TCGA-HC-A76X-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d9192ed-c94c-472c-b614-fc31cc044d3b	f337b49f-54b4-4a3f-9b2e-075249ea8f13	g.chr11:61178492G>A	ENST00000394888.4	-	9	1511	c.1339C>T	c.(1339-1341)Cgg>Tgg	p.R447W	CPSF7_ENST00000439958.3_Missense_Mutation_p.R438W|CPSF7_ENST00000340437.4_Missense_Mutation_p.R490W|CPSF7_ENST00000448745.1_Missense_Mutation_p.R438W	NM_001136040.2	NP_001129512.1	Q8N684	CPSF7_HUMAN	cleavage and polyadenylation specific factor 7, 59kDa	447	Arg-rich.				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA splicing, via spliceosome (GO:0000398)|protein tetramerization (GO:0051262)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	membrane (GO:0016020)|mRNA cleavage factor complex (GO:0005849)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|skin(2)|upper_aerodigestive_tract(1)	22						TCATCATGCCGATCTTCATTA	0.547																																						ENST00000340437.4																			0				breast(3)|central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|skin(2)|upper_aerodigestive_tract(1)	22						c.(1468-1470)Cgg>Tgg		cleavage and polyadenylation specific factor 7, 59kDa							121	124	123					11																	61178492		2202	4299	6501	SO:0001583	missense	79869				mRNA 3'-end processing|nuclear mRNA splicing, via spliceosome|protein tetramerization|termination of RNA polymerase II transcription	mRNA cleavage factor complex	nucleotide binding|protein binding|RNA binding	g.chr11:61178492G>A		CCDS8006.2, CCDS44619.1, CCDS44620.1	11q12.2	2013-06-18			ENSG00000149532	ENSG00000149532		"RNA binding motif (RRM) containing"	30098	protein-coding gene	gene with protein product	"pre mRNA cleavage factor I, 59 kDa subunit", "cleavage factor Im complex 59 kDa subunit"					12477932	Standard	NM_024811		Approved	FLJ12529	uc001nrp.3	Q8N684	OTTHUMG00000168198	ENST00000394888.4:c.1339C>T	11.37:g.61178492G>A	ENSP00000378352:p.Arg447Trp					CPSF7_ENST00000448745.1_Missense_Mutation_p.R438W|CPSF7_ENST00000439958.3_Missense_Mutation_p.R438W|CPSF7_ENST00000394888.4_Missense_Mutation_p.R447W	p.R490W	NM_024811.3	NP_079087.3	Q8N684	CPSF7_HUMAN			9	1548	-			447					B3KU04|C9K0Q4|Q7Z3H9|Q9H025|Q9H9V1	Missense_Mutation	SNP	ENST00000394888.4	37	c.1468C>T	CCDS44619.1	.	.	.	.	.	.	.	.	.	.	G	33	5.237441	0.95240	.	.	ENSG00000149532	ENST00000340437;ENST00000394888;ENST00000439958;ENST00000448745;ENST00000544147;ENST00000477890	T;T;T;T;D	0.87966	2.37;2.37;2.37;2.37;-2.32	5.95	4.97	0.65823	.	0.063428	0.64402	D	0.000006	T	0.82208	0.4987	L	0.52573	1.65	0.80722	D	1	B;P;B	0.35944	0.072;0.529;0.119	B;B;B	0.31245	0.005;0.126;0.011	D	0.83602	0.0129	10	0.87932	D	0	-3.4049	11.8959	0.52656	0.0712:0.0:0.7957:0.1331	.	447;490;438	Q8N684;Q8N684-3;Q8N684-2	CPSF7_HUMAN;.;.	W	490;447;438;438;213;371	ENSP00000345412:R490W;ENSP00000378352:R447W;ENSP00000397203:R438W;ENSP00000407394:R438W;ENSP00000437860:R371W	ENSP00000345412:R490W	R	-	1	2	CPSF7	60935068	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.561000	0.60809	2.824000	0.97209	0.655000	0.94253	CGG		0.547	CPSF7-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000347835.2	NM_024811		12	81	0	0	0	1	0	12	81					A	61178492	G	A	61178492	3	1	252	1	0	0	0	0	1	0	0	0	3830	1057	37	2	80	2	CPSF7	11	61178492	Missense_Mutation	SNP	G	TCGA-HC-A76X-01A-11D-A33T-08	28183540	61178492	73828024	26	11822											
SBNO1	55206	broad.mit.edu	37	chr12	123780522	123780522	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atagctgtttctgttggaccGcaagctgttgagactggtct	7	14	12	8	1	2	1	0	1	2	1	2	3	2	2	1	2	2	6	1	2	2	4			TCGA-HC-A76X-01A-11D-A33T-08	TCGA-HC-A76X-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d9192ed-c94c-472c-b614-fc31cc044d3b	f337b49f-54b4-4a3f-9b2e-075249ea8f13	g.chr12:123780522G>A	ENST00000602398.1	-	32	4242	c.4115C>T	c.(4114-4116)gCg>gTg	p.A1372V	SBNO1_ENST00000267176.4_Missense_Mutation_p.A1371V|SBNO1_ENST00000420886.2_Missense_Mutation_p.A1372V|SBNO1_ENST00000602750.1_Missense_Mutation_p.A1371V			A3KN83	SBNO1_HUMAN	strawberry notch homolog 1 (Drosophila)	1372					regulation of transcription, DNA-templated (GO:0006355)			p.A1371V(2)		NS(2)|breast(6)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(11)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(2)	62	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197)		CTGTTGGACCGCAAGCTGTTG	0.433																																						ENST00000420886.2																			2	Substitution - Missense(2)	p.A1371V(2)	lung(1)|prostate(1)	NS(2)|breast(6)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(11)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(2)	62						c.(4114-4116)gCg>gTg		strawberry notch homolog 1 (Drosophila)							340	303	316					12																	123780522		2203	4300	6503	SO:0001583	missense	55206						ATP binding|DNA binding|hydrolase activity	g.chr12:123780522G>A	AK001563	CCDS9246.1, CCDS53844.1	12q24.31	2006-10-06	2006-10-06			ENSG00000139697			22973	protein-coding gene	gene with protein product		614274	"sno, strawberry notch homolog 1 (Drosophila)"				Standard	NM_018183		Approved	MOP3, FLJ10701, FLJ10833, Sno	uc010tap.2	A3KN83		ENST00000602398.1:c.4115C>T	12.37:g.123780522G>A	ENSP00000473665:p.Ala1372Val					SBNO1_ENST00000267176.4_Missense_Mutation_p.A1371V|SBNO1_ENST00000602750.1_Missense_Mutation_p.A1371V|SBNO1_ENST00000602398.1_Missense_Mutation_p.A1372V	p.A1372V	NM_001167856.1	NP_001161328.1	A3KN83	SBNO1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197)	31	4114	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		1372					Q05C06|Q3ZTS3|Q9H3T8|Q9NVB2	Missense_Mutation	SNP	ENST00000602398.1	37	c.4115C>T	CCDS53844.1	.	.	.	.	.	.	.	.	.	.	G	25.3	4.622923	0.87460	.	.	ENSG00000139697	ENST00000420886;ENST00000267176	T;T	0.32515	1.45;1.45	6.04	6.04	0.98038	.	0.000000	0.85682	D	0.000000	T	0.45236	0.1332	L	0.27053	0.805	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.73708	0.959;0.981	T	0.12785	-1.0534	10	0.33940	T	0.23	-19.465	20.5792	0.99380	0.0:0.0:1.0:0.0	.	1372;1371	A3KN83;A3KN83-2	SBNO1_HUMAN;.	V	1372;1371	ENSP00000387361:A1372V;ENSP00000267176:A1371V	ENSP00000267176:A1371V	A	-	2	0	SBNO1	122346475	1.000000	0.71417	0.790000	0.31976	0.976000	0.68499	9.431000	0.97494	2.873000	0.98535	0.561000	0.74099	GCG		0.433	SBNO1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000467684.1	NM_018183		4	134	0	0	0	1	0	4	134					A	123780522	G	A	123780522	3	1	252	1	0	0	0	0	1	0	0	0	13862	1087	38	1	70	1	SBNO1	12	123780522	Missense_Mutation	SNP	G	TCGA-HC-A76X-01A-11D-A33T-08		123780522	10071373	27	11823											
MYCBP2	23077	broad.mit.edu	37	chr13	77738587	77738587	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atccagtattggccacacttAccaataggaagtgctaggtc	12	10	9	10	0	0	0	0	0	0	0	2	1	1	1	3	3	2	2	3	3	6	5			TCGA-HC-A76X-01A-11D-A33T-08	TCGA-HC-A76X-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d9192ed-c94c-472c-b614-fc31cc044d3b	f337b49f-54b4-4a3f-9b2e-075249ea8f13	g.chr13:77738587A>G	ENST00000544440.2	-	43	6451		c.e43+1		MYCBP2_ENST00000357337.6_Splice_Site|MYCBP2_ENST00000360084.5_Splice_Site|MYCBP2_ENST00000407578.2_Splice_Site					MYC binding protein 2, E3 ubiquitin protein ligase											NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		GGCCACACTTACCAATAGGAA	0.368																																						ENST00000407578.2																			0				NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118						c.e43+1		MYC binding protein 2, E3 ubiquitin protein ligase							80	74	76					13																	77738587		2203	4300	6503	SO:0001630	splice_region_variant	23077				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding	g.chr13:77738587A>G	AB020723		13q22	2012-02-23	2012-02-23		ENSG00000005810	ENSG00000005810			23386	protein-coding gene	gene with protein product		610392	"MYC binding protein 2"			9689053, 15057823	Standard	NM_015057		Approved	PAM, KIAA0916, FLJ10106	uc021rks.1	O75592	OTTHUMG00000017105	ENST00000544440.2:c.6433+1T>C	13.37:g.77738587A>G						MYCBP2_ENST00000544440.2_Splice_Site|MYCBP2_ENST00000357337.6_Splice_Site|MYCBP2_ENST00000360084.5_Splice_Site		NM_015057.4	NP_055872.4	O75592	MYCB2_HUMAN		GBM - Glioblastoma multiforme(99;0.109)	43	6814	-		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)							Splice_Site	SNP	ENST00000544440.2	37			.	.	.	.	.	.	.	.	.	.	A	24.2	4.506282	0.85282	.	.	ENSG00000005810	ENST00000357337;ENST00000407578;ENST00000544440	.	.	.	5.62	5.62	0.85841	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.6851	0.69044	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	MYCBP2	76636588	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	7.892000	0.87324	2.260000	0.74910	0.528000	0.53228	.		0.368	MYCBP2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000045326.1	NM_015057	Intron	3	31	0	0	0	1	0	3	31					G	77738587	A	G	77738587	5	3	252	1	0	0	0	0	0	0	1	0	10018	405	14	4	7651	4	MYCBP2	13	77738587	Splice_Site	SNP	A	TCGA-HC-A76X-01A-11D-A33T-08		77738587	37431291	28	11824											
CDC16	8881	broad.mit.edu	37	chr13	115016141	115016141	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tacttcacagcagcacagctGatgaaagggtacggcagagc	13	6	12	10	1	1	3	1	2	0	1	1	3	1	3	0	2	6	5	0	2	3	3			TCGA-HC-A76X-01A-11D-A33T-08	TCGA-HC-A76X-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d9192ed-c94c-472c-b614-fc31cc044d3b	f337b49f-54b4-4a3f-9b2e-075249ea8f13	g.chr13:115016141G>A	ENST00000356221.3	+	12	1197	c.1089G>A	c.(1087-1089)ctG>ctA	p.L363L	CDC16_ENST00000375310.1_Silent_p.L269L|CDC16_ENST00000375312.3_Silent_p.L269L|CDC16_ENST00000252458.6_Silent_p.L269L|CDC16_ENST00000360383.3_Silent_p.L363L|CDC16_ENST00000375308.1_Silent_p.L269L|CDC16_ENST00000252457.5_Silent_p.L362L			Q13042	CDC16_HUMAN	cell division cycle 16	363					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell proliferation (GO:0008283)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of mitosis (GO:0007088)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|spindle (GO:0005819)				endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22	Lung NSC(43;0.00299)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0191)|all_epithelial(44;0.00716)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.238)	BRCA - Breast invasive adenocarcinoma(86;0.0886)			CAGCACAGCTGATGAAAGGGT	0.433																																						ENST00000360383.3																			0				endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						c.(1087-1089)ctG>ctA		cell division cycle 16							93	77	83					13																	115016141		2203	4300	6503	SO:0001819	synonymous_variant	8881				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|cell proliferation|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule	binding	g.chr13:115016141G>A	U18291	CCDS9542.2	13q34	2013-01-17	2013-01-17		ENSG00000130177	ENSG00000130177		"Anaphase promoting complex subunits", "Tetratricopeptide (TTC) repeat domain containing"	1720	protein-coding gene	gene with protein product	"anaphase-promoting complex, subunit 6"	603461	"CDC16 (cell division cycle 16, S. cerevisiae, homolog)", "CDC16 cell division cycle 16 homolog (S. cerevisiae)", "cell division cycle 16 homolog (S. cerevisiae)"			7736578	Standard	NM_001078645		Approved	APC6, ANAPC6, CUT9	uc001vul.1	Q13042	OTTHUMG00000017402	ENST00000356221.3:c.1089G>A	13.37:g.115016141G>A						CDC16_ENST00000375308.1_Silent_p.L269L|CDC16_ENST00000252458.6_Silent_p.L269L|CDC16_ENST00000375310.1_Silent_p.L269L|CDC16_ENST00000375312.3_Silent_p.L269L|CDC16_ENST00000356221.3_Silent_p.L363L|CDC16_ENST00000252457.5_Silent_p.L362L	p.L363L	NM_001078645.1|NM_003903.3	NP_001072113.1|NP_003894.3	Q13042	CDC16_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.0886)		12	1287	+	Lung NSC(43;0.00299)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0191)|all_epithelial(44;0.00716)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.238)	363					A2A365|Q5T8C8|Q96AE6|Q9Y564	Silent	SNP	ENST00000356221.3	37	c.1089G>A	CCDS9542.2																																																																																				0.433	CDC16-009	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276737.1	NM_003903		19	18	0	0	0	1	0	19	18					A	115016141	G	A	115016141	2	1	252	1	0	0	0	0	0	0	0	1	3058	1277	45	3		3	CDC16	13	115016141	Silent	SNP	G	TCGA-HC-A76X-01A-11D-A33T-08	37277554	115016141	153737	29	11825											
RYR3	6263	broad.mit.edu	37	chr15	33895402	33895402	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tacttcgagctgattatcgaCcaggtggaccccttcctaac	9	11	8	13	2	0	1	0	1	0	0	3	4	1	2	4	2	3	1	4	2	3	5			TCGA-HC-A76X-01A-11D-A33T-08	TCGA-HC-A76X-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d9192ed-c94c-472c-b614-fc31cc044d3b	f337b49f-54b4-4a3f-9b2e-075249ea8f13	g.chr15:33895402C>A	ENST00000389232.4	+	18	2071	c.2001C>A	c.(1999-2001)gaC>gaA	p.D667E	RYR3_ENST00000415757.3_Missense_Mutation_p.D667E	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	667	B30.2/SPRY 1. {ECO:0000255|PROSITE- ProRule:PRU00548}.				calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		TGATTATCGACCAGGTGGACC	0.567																																						ENST00000389232.4																			0				NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311						c.(1999-2001)gaC>gaA		ryanodine receptor 3							139	145	143					15																	33895402		2006	4163	6169	SO:0001583	missense	6263				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr15:33895402C>A		CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"Ion channels / Ryanodine receptors", "EF-hand domain containing"	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.2001C>A	15.37:g.33895402C>A	ENSP00000373884:p.Asp667Glu					RYR3_ENST00000415757.3_Missense_Mutation_p.D667E	p.D667E	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)	18	2071	+		all_lung(180;7.18e-09)	667			B30.2/SPRY 1.		O15175|Q15412	Missense_Mutation	SNP	ENST00000389232.4	37	c.2001C>A	CCDS45210.1	.	.	.	.	.	.	.	.	.	.	C	18.19	3.568984	0.65765	.	.	ENSG00000198838	ENST00000389232;ENST00000415757;ENST00000361728	T;T	0.69040	-0.37;-0.37	5.42	3.41	0.39046	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.000000	0.85682	D	0.000000	T	0.70954	0.3283	L	0.47716	1.5	0.46044	D	0.998835	D;D	0.89917	0.996;1.0	D;D	0.87578	0.99;0.998	T	0.67039	-0.5771	10	0.27082	T	0.32	.	7.1765	0.25747	0.0:0.7269:0.0:0.2731	.	667;667	Q15413-2;Q15413	.;RYR3_HUMAN	E	667	ENSP00000373884:D667E;ENSP00000399610:D667E	ENSP00000354735:D667E	D	+	3	2	RYR3	31682694	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	1.331000	0.33793	1.526000	0.49068	0.644000	0.83932	GAC		0.567	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1			37	91	1	0	3.33393e-15	1	3.67413e-15	37	91					A	33895402	C	A	33895402	3	1	252	1	0	0	0	0	1	0	0	0	13770	506	18	5	2071	5	RYR3	15	33895402	Missense_Mutation	SNP	C	TCGA-HC-A76X-01A-11D-A33T-08		33895402	68635990	30	11826											
HERC1	8925	broad.mit.edu	37	chr15	63942117	63942117	+	Frame_Shift_Del	DEL	T	T	-																															ggctgaatatctactaatccTtttcctcctaaaagggaaaa																										TCGA-HC-A76X-01A-11D-A33T-08	TCGA-HC-A76X-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d9192ed-c94c-472c-b614-fc31cc044d3b	f337b49f-54b4-4a3f-9b2e-075249ea8f13	g.chr15:63942117delT	ENST00000443617.2	-	54	10641	c.10554delA	c.(10552-10554)aaafs	p.K3518fs		NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	3518					cerebellar Purkinje cell differentiation (GO:0021702)|negative regulation of autophagy (GO:0010507)|neuromuscular process controlling balance (GO:0050885)|neuron projection development (GO:0031175)|positive regulation of GTPase activity (GO:0043547)|transport (GO:0006810)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						CTACTAATCCTTTTCCTCCTA	0.388																																						ENST00000443617.2																			0				NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						c.(10552-10554)aafs		HECT and RLD domain containing E3 ubiquitin protein ligase family member 1							42	38	39					15																	63942117		1829	4078	5907	SO:0001589	frameshift_variant	8925				protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity	g.chr15:63942117delT	U50078	CCDS45277.1	15q22	2013-01-10	2012-02-23			ENSG00000103657		"WD repeat domain containing"	4867	protein-coding gene	gene with protein product		605109	"hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 1"			8861955, 9233772	Standard	NM_003922		Approved	p532, p619	uc002amp.3	Q15751		ENST00000443617.2:c.10554delA	15.37:g.63942117delT	ENSP00000390158:p.Lys3518fs						p.K3518fs	NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN			54	10641	-			3518					Q8IW65	Frame_Shift_Del	DEL	ENST00000443617.2	37	c.10554delA	CCDS45277.1																																																																																				0.388	HERC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418523.1	NM_003922		2	4						2	4	---	---	---	---	-	63942117	T	-	63942117	7	5	252	1	0	1	0	1	0	0	0	0	7057	1606	56	0	4131	0	HERC1	15	63942117	Frame_Shift_Del	DEL	T	TCGA-HC-A76X-01A-11D-A33T-08	30046715	63942117	38589275	31	11827											
ANKDD1A	348094	broad.mit.edu	37	chr15	65239792	65239792	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcacggaggcacatgtcgacGccatcgagcaacagtggaca	12	5	12	12	4	1	0	1	0	0	0	3	4	1	2	1	3	2	2	1	3	1	0			TCGA-HC-A76X-01A-11D-A33T-08	TCGA-HC-A76X-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d9192ed-c94c-472c-b614-fc31cc044d3b	f337b49f-54b4-4a3f-9b2e-075249ea8f13	g.chr15:65239792G>A	ENST00000380230.3	+	13	1359	c.1330G>A	c.(1330-1332)Gcc>Acc	p.A444T	ANKDD1A_ENST00000357698.3_Missense_Mutation_p.A412T|ANKDD1A_ENST00000395723.1_Missense_Mutation_p.A321T|ANKDD1A_ENST00000395720.1_Missense_Mutation_p.A444T	NM_182703.3	NP_874362.3	Q495B1	AKD1A_HUMAN	ankyrin repeat and death domain containing 1A	444	Death. {ECO:0000255|PROSITE- ProRule:PRU00064}.				signal transduction (GO:0007165)					NS(1)|endometrium(1)|large_intestine(10)|liver(2)|lung(4)|ovary(1)|prostate(2)	21						ACATGTCGACGCCATCGAGCA	0.592																																						ENST00000380230.3																			0				NS(1)|endometrium(1)|large_intestine(10)|liver(2)|lung(4)|ovary(1)|prostate(2)	21						c.(1330-1332)Gcc>Acc		ankyrin repeat and death domain containing 1A							71	47	55					15																	65239792		2202	4299	6501	SO:0001583	missense	348094				signal transduction			g.chr15:65239792G>A		CCDS10197.2	15q22.31	2013-01-10	2006-02-16		ENSG00000166839	ENSG00000166839		"Ankyrin repeat domain containing"	28002	protein-coding gene	gene with protein product						12477932	Standard	NM_182703		Approved	FLJ25870	uc002aoa.3	Q495B1	OTTHUMG00000133051	ENST00000380230.3:c.1330G>A	15.37:g.65239792G>A	ENSP00000369579:p.Ala444Thr					ANKDD1A_ENST00000395720.1_Missense_Mutation_p.A444T|ANKDD1A_ENST00000357698.3_Missense_Mutation_p.A412T|ANKDD1A_ENST00000395723.1_Missense_Mutation_p.A321T	p.A444T	NM_182703.3	NP_874362.3	Q495B1	AKD1A_HUMAN			13	1359	+			444			Death.		Q495B2|Q495B3|Q8N7A0|Q8NBS5	Missense_Mutation	SNP	ENST00000380230.3	37	c.1330G>A	CCDS10197.2	.	.	.	.	.	.	.	.	.	.	G	19.30	3.801869	0.70682	.	.	ENSG00000166839	ENST00000380230;ENST00000357698;ENST00000395720;ENST00000395723	D;D;D;D	0.85258	-1.96;-1.96;-1.96;-1.96	4.56	4.56	0.56223	Death (2);DEATH-like (2);	0.000000	0.64402	D	0.000020	D	0.91952	0.7451	M	0.81497	2.545	0.80722	D	1	D	0.89917	1.0	D	0.70016	0.967	D	0.92386	0.5917	10	0.51188	T	0.08	-21.9078	16.0923	0.81101	0.0:0.0:1.0:0.0	.	444	Q495B1	AKD1A_HUMAN	T	444;412;444;321	ENSP00000369579:A444T;ENSP00000350329:A412T;ENSP00000379070:A444T;ENSP00000379073:A321T	ENSP00000350329:A412T	A	+	1	0	ANKDD1A	63026845	1.000000	0.71417	0.937000	0.37676	0.162000	0.22319	9.170000	0.94795	2.388000	0.81334	0.609000	0.83330	GCC		0.592	ANKDD1A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256705.2	NM_182703		3	17	0	0	0	1	0	3	17					A	65239792	G	A	65239792	3	1	252	1	0	0	0	0	1	0	0	0	624	1087	38	1	1380	1	ANKDD1A	15	65239792	Missense_Mutation	SNP	G	TCGA-HC-A76X-01A-11D-A33T-08	1297675	65239792	37291600	32	11828											
PAQR5	54852	broad.mit.edu	37	chr15	69696052	69696052	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gcccttctctttctctcagaTagctggagccatacttctgt	6	15	7	13	0	4	1	1	0	3	1	6	2	4	2	2	1	3	1	2	1	2	5			TCGA-HC-A76X-01A-11D-A33T-08	TCGA-HC-A76X-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d9192ed-c94c-472c-b614-fc31cc044d3b	f337b49f-54b4-4a3f-9b2e-075249ea8f13	g.chr15:69696052T>C	ENST00000340965.3	+	9	1552	c.884T>C	c.(883-885)aTa>aCa	p.I295T	PAQR5_ENST00000395407.2_Missense_Mutation_p.I295T|RP11-253M7.1_ENST00000558617.1_RNA|Y_RNA_ENST00000384665.1_RNA|PAQR5_ENST00000561153.1_Missense_Mutation_p.I295T|RP11-253M7.1_ENST00000558107.1_RNA|RP11-253M7.1_ENST00000560539.1_RNA	NM_001104554.1	NP_001098024.1	Q9NXK6	MPRG_HUMAN	progestin and adipoQ receptor family member V	295					multicellular organismal development (GO:0007275)|oogenesis (GO:0048477)	integral component of membrane (GO:0016021)	receptor activity (GO:0004872)|steroid binding (GO:0005496)			endometrium(3)|kidney(2)|large_intestine(1)|lung(2)|ovary(2)|skin(1)	11						TTCTCTCAGATAGCTGGAGCC	0.473																																						ENST00000340965.3																			0				endometrium(3)|kidney(2)|large_intestine(1)|lung(2)|ovary(2)|skin(1)	11						c.(883-885)aTa>aCa		progestin and adipoQ receptor family member V							94	84	87					15																	69696052		2199	4298	6497	SO:0001583	missense	54852				cell differentiation|multicellular organismal development|oogenesis	integral to membrane	receptor activity|steroid binding	g.chr15:69696052T>C		CCDS10232.1	15q22.31	2012-08-10			ENSG00000137819	ENSG00000137819			29645	protein-coding gene	gene with protein product	"membrane progestin receptor gamma"	607781				12574519	Standard	NM_001104554		Approved	FLJ20190, MPRG	uc002arz.2	Q9NXK6	OTTHUMG00000133322	ENST00000340965.3:c.884T>C	15.37:g.69696052T>C	ENSP00000343877:p.Ile295Thr					PAQR5_ENST00000395407.2_Missense_Mutation_p.I295T|PAQR5_ENST00000561153.1_Missense_Mutation_p.I295T|RP11-253M7.1_ENST00000560539.1_RNA|RP11-253M7.1_ENST00000558617.1_RNA	p.I295T	NM_001104554.1	NP_001098024.1	Q9NXK6	MPRG_HUMAN			9	1552	+			295					Q8IXU2	Missense_Mutation	SNP	ENST00000340965.3	37	c.884T>C	CCDS10232.1	.	.	.	.	.	.	.	.	.	.	T	0.074	-1.196665	0.01594	.	.	ENSG00000137819	ENST00000395407;ENST00000340965	T;T	0.20069	2.1;2.1	5.45	4.15	0.48705	.	0.269567	0.40469	N	0.001086	T	0.08223	0.0205	N	0.11724	0.165	0.37323	D	0.909652	B	0.02656	0.0	B	0.04013	0.001	T	0.21621	-1.0240	10	0.02654	T	1	-21.0706	5.607	0.17385	0.0:0.1487:0.0:0.8513	.	295	Q9NXK6	MPRG_HUMAN	T	295	ENSP00000378803:I295T;ENSP00000343877:I295T	ENSP00000343877:I295T	I	+	2	0	PAQR5	67483106	0.980000	0.34600	0.895000	0.35142	0.035000	0.12851	2.226000	0.42963	2.189000	0.69895	0.533000	0.62120	ATA		0.473	PAQR5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416671.1	NM_017705		3	65	0	0	0	1	0	3	65					C	69696052	T	C	69696052	3	2	252	1	0	0	0	0	1	0	0	0	11438	1406	49	4	910	4	PAQR5	15	69696052	Missense_Mutation	SNP	T	TCGA-HC-A76X-01A-11D-A33T-08	4456260	69696052	32835340	33	11829											
GRIN2A	2903	broad.mit.edu	37	chr16	10274172	10274172	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catcaccgcaatatttagcgCggggggacccttctccgccg	7	8	11	15	5	2	0	1	0	1	0	3	1	2	1	4	3	1	1	4	3	3	4			TCGA-HC-A76X-01A-11D-A33T-08	TCGA-HC-A76X-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d9192ed-c94c-472c-b614-fc31cc044d3b	f337b49f-54b4-4a3f-9b2e-075249ea8f13	g.chr16:10274172C>T	ENST00000396573.2	-	3	406	c.97G>A	c.(97-99)Gcg>Acg	p.A33T	GRIN2A_ENST00000330684.3_Missense_Mutation_p.A33T|GRIN2A_ENST00000404927.2_Missense_Mutation_p.A33T|GRIN2A_ENST00000396575.2_Missense_Mutation_p.A33T|GRIN2A_ENST00000562109.1_Missense_Mutation_p.A33T	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	33					directional locomotion (GO:0033058)|dopamine metabolic process (GO:0042417)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning or memory (GO:0007611)|memory (GO:0007613)|negative regulation of protein catabolic process (GO:0042177)|neurogenesis (GO:0022008)|positive regulation of apoptotic process (GO:0043065)|protein localization (GO:0008104)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic plasticity (GO:0048167)|response to amphetamine (GO:0001975)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to wounding (GO:0009611)|sensory perception of pain (GO:0019233)|serotonin metabolic process (GO:0042428)|sleep (GO:0030431)|startle response (GO:0001964)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)|visual learning (GO:0008542)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Glycine(DB00145)|Halothane(DB01159)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	ATATTTAGCGCGGGGGGACCC	0.692																																						ENST00000396573.2																			0				NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198						c.(97-99)Gcg>Acg		glutamate receptor, ionotropic, N-methyl D-aspartate 2A	Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)						26	31	29					16																	10274172		2193	4294	6487	SO:0001583	missense	0				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	g.chr16:10274172C>T		CCDS10539.1, CCDS45407.1	16p13.2	2012-08-29			ENSG00000183454	ENSG00000183454		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4585	protein-coding gene	gene with protein product		138253		NMDAR2A		9480759	Standard	XM_005255267		Approved	GluN2A	uc002czo.4	Q12879	OTTHUMG00000129721	ENST00000396573.2:c.97G>A	16.37:g.10274172C>T	ENSP00000379818:p.Ala33Thr					GRIN2A_ENST00000396575.2_Missense_Mutation_p.A33T|GRIN2A_ENST00000562109.1_Missense_Mutation_p.A33T|GRIN2A_ENST00000330684.3_Missense_Mutation_p.A33T|GRIN2A_ENST00000404927.2_Missense_Mutation_p.A33T	p.A33T	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN			3	406	-			33					O00669|Q17RZ6	Missense_Mutation	SNP	ENST00000396573.2	37	c.97G>A	CCDS10539.1	.	.	.	.	.	.	.	.	.	.	C	17.88	3.496329	0.64186	.	.	ENSG00000183454	ENST00000396573;ENST00000404927;ENST00000330684;ENST00000396575	T;T;T;T	0.11712	2.77;2.75;2.77;2.77	4.54	4.54	0.55810	.	0.258802	0.30528	N	0.009429	T	0.14485	0.0350	L	0.43152	1.355	0.80722	D	1	D;B;P	0.63046	0.992;0.086;0.688	P;B;B	0.49683	0.619;0.009;0.028	T	0.01930	-1.1245	9	.	.	.	.	11.881	0.52576	0.0:0.912:0.0:0.088	.	33;33;33	Q547U9;Q17RZ6;Q12879	.;.;NMDE1_HUMAN	T	33	ENSP00000379818:A33T;ENSP00000385872:A33T;ENSP00000332549:A33T;ENSP00000379820:A33T	.	A	-	1	0	GRIN2A	10181673	0.977000	0.34250	1.000000	0.80357	0.984000	0.73092	1.351000	0.34022	2.088000	0.63022	0.561000	0.74099	GCG		0.692	GRIN2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251930.3			12	36	0	0	0	1	0	12	36					T	10274172	C	T	10274172	3	4	252	1	0	0	0	0	1	0	0	0	6779	768	27	1	4345	1	GRIN2A	16	10274172	Missense_Mutation	SNP	C	TCGA-HC-A76X-01A-11D-A33T-08		10274172	80080581	34	11830											
SALL1	6299	broad.mit.edu	37	chr16	51174728	51174728	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cctctctccggtatgggaacGcaagtggatctgcaaggcac	9	8	12	12	2	2	0	0	0	2	0	4	2	3	2	2	4	2	4	2	4	4	1			TCGA-HC-A76X-01A-11D-A33T-08	TCGA-HC-A76X-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d9192ed-c94c-472c-b614-fc31cc044d3b	f337b49f-54b4-4a3f-9b2e-075249ea8f13	g.chr16:51174728G>A	ENST00000251020.4	-	2	1438	c.1405C>T	c.(1405-1407)Cgt>Tgt	p.R469C	SALL1_ENST00000562674.1_5'Flank|SALL1_ENST00000541611.1_Intron|SALL1_ENST00000566102.1_Intron|SALL1_ENST00000440970.1_Missense_Mutation_p.R372C	NM_002968.2	NP_002959.2	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	469					adrenal gland development (GO:0030325)|branching involved in ureteric bud morphogenesis (GO:0001658)|embryonic digestive tract development (GO:0048566)|embryonic digit morphogenesis (GO:0042733)|forelimb morphogenesis (GO:0035136)|gonad development (GO:0008406)|heart development (GO:0007507)|hindlimb morphogenesis (GO:0035137)|histone deacetylation (GO:0016575)|inductive cell-cell signaling (GO:0031129)|kidney development (GO:0001822)|kidney epithelium development (GO:0072073)|limb development (GO:0060173)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|olfactory bulb interneuron differentiation (GO:0021889)|olfactory bulb mitral cell layer development (GO:0061034)|olfactory nerve development (GO:0021553)|outer ear morphogenesis (GO:0042473)|pituitary gland development (GO:0021983)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of neural precursor cell proliferation (GO:2000177)|transcription, DNA-templated (GO:0006351)|ureteric bud development (GO:0001657)|ureteric bud invasion (GO:0072092)|ventricular septum development (GO:0003281)	chromocenter (GO:0010369)|cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R469C(1)		NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			GTATGGGAACGCAAGTGGATC	0.507																																					GBM(103;1352 1446 1855 4775 8890)	ENST00000440970.1																			1	Substitution - Missense(1)	p.R469C(1)	large_intestine(1)	NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126	GRCh37	HI971487	SALL1	I		c.(1114-1116)Cgt>Tgt		spalt-like transcription factor 1							99	93	95					16																	51174728		2198	4300	6498	SO:0001583	missense	6299				adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr16:51174728G>A	X98833	CCDS10747.1, CCDS45483.1	16q12.1	2014-09-17	2013-10-17		ENSG00000103449	ENSG00000103449		"Zinc fingers, C2H2-type"	10524	protein-coding gene	gene with protein product		602218	"sal (Drosophila)-like 1", "sal-like 1 (Drosophila)"	TBS		9425907	Standard	NM_002968		Approved	Hsal1, ZNF794	uc021tie.1	Q9NSC2	OTTHUMG00000133176	ENST00000251020.4:c.1405C>T	16.37:g.51174728G>A	ENSP00000251020:p.Arg469Cys					SALL1_ENST00000566102.1_Intron|SALL1_ENST00000541611.1_Intron|SALL1_ENST00000251020.4_Missense_Mutation_p.R469C	p.R372C	NM_001127892.1	NP_001121364.1	Q9NSC2	SALL1_HUMAN	COAD - Colon adenocarcinoma(2;0.24)		2	1545	-		all_cancers(37;0.0322)	469			Poly-Ser.		Q99881|Q9NSC3|Q9P1R0	Missense_Mutation	SNP	ENST00000251020.4	37	c.1114C>T	CCDS10747.1	.	.	.	.	.	.	.	.	.	.	G	19.46	3.831141	0.71258	.	.	ENSG00000103449	ENST00000251020;ENST00000440970;ENST00000457559	T;T	0.25749	1.78;1.78	5.18	5.18	0.71444	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.56963	0.2021	M	0.83852	2.665	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.63967	-0.6517	10	0.87932	D	0	.	18.685	0.91560	0.0:0.0:1.0:0.0	.	469	Q9NSC2	SALL1_HUMAN	C	469;372;433	ENSP00000251020:R469C;ENSP00000407914:R372C	ENSP00000251020:R469C	R	-	1	0	SALL1	49732229	1.000000	0.71417	1.000000	0.80357	0.932000	0.56968	9.864000	0.99589	2.386000	0.81285	0.563000	0.77884	CGT		0.507	SALL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256883.2	NM_002968		16	48	0	0	0	1	0	16	48					A	51174728	G	A	51174728	3	1	252	1	0	0	0	0	1	0	0	0	13810	1087	38	1	2577	1	SALL1	16	51174728	Missense_Mutation	SNP	G	TCGA-HC-A76X-01A-11D-A33T-08	40900556	51174728	39180025	35	11831											
USP22	23326	broad.mit.edu	37	chr17	20922442	20922442	+	Nonsense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctccttttcgggttgtgctTcagcagttcaagctcccgtt	4	16	9	12	2	3	0	2	0	1	0	6	0	4	0	2	1	3	6	2	1	1	6			TCGA-HC-A76X-01A-11D-A33T-08	TCGA-HC-A76X-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d9192ed-c94c-472c-b614-fc31cc044d3b	f337b49f-54b4-4a3f-9b2e-075249ea8f13	g.chr17:20922442T>A	ENST00000261497.4	-	4	678	c.475A>T	c.(475-477)Aag>Tag	p.K159*	USP22_ENST00000455117.2_Intron|USP22_ENST00000537526.2_Nonsense_Mutation_p.K147*	NM_015276.1	NP_056091.1	Q9UPT9	UBP22_HUMAN	ubiquitin specific peptidase 22	159					cell cycle (GO:0007049)|chromatin organization (GO:0006325)|embryo development (GO:0009790)|histone deubiquitination (GO:0016578)|histone H4 acetylation (GO:0043967)|histone ubiquitination (GO:0016574)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of transcription, DNA-templated (GO:0045893)|protein deubiquitination (GO:0016579)|transcription, DNA-templated (GO:0006351)|ubiquitin-dependent protein catabolic process (GO:0006511)	SAGA complex (GO:0000124)	enzyme binding (GO:0019899)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|transcription coactivator activity (GO:0003713)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)	15						GGGTTGTGCTTCAGCAGTTCA	0.478																																						ENST00000261497.4																			0				endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)	15						c.(475-477)Aag>Tag		ubiquitin specific peptidase 22							268	261	263					17																	20922442		1941	4152	6093	SO:0001587	stop_gained	23326				cell cycle|embryo development|histone deubiquitination|histone H4 acetylation|histone ubiquitination|positive regulation of mitotic cell cycle|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	SAGA complex	ligand-dependent nuclear receptor transcription coactivator activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding	g.chr17:20922442T>A	AB028986	CCDS42285.1	17p11.2	2006-11-24	2005-08-08		ENSG00000124422	ENSG00000124422		"Ubiquitin-specific peptidases"	12621	protein-coding gene	gene with protein product		612116	"ubiquitin specific protease 22", "ubiquitin specific peptidase 3-like"	USP3L		12838346	Standard	NM_015276		Approved	KIAA1063	uc002gym.4	Q9UPT9	OTTHUMG00000133621	ENST00000261497.4:c.475A>T	17.37:g.20922442T>A	ENSP00000261497:p.Lys159*					USP22_ENST00000537526.2_Nonsense_Mutation_p.K147*|USP22_ENST00000455117.2_Intron	p.K159*	NM_015276.1	NP_056091.1	Q9UPT9	UBP22_HUMAN			4	678	-			159					A0JNS3|Q2NLE2|Q6MZY4|Q8TBS8|Q96IW5	Nonsense_Mutation	SNP	ENST00000261497.4	37	c.475A>T	CCDS42285.1	.	.	.	.	.	.	.	.	.	.	t	36	5.650217	0.96714	.	.	ENSG00000124422	ENST00000455117;ENST00000537526;ENST00000261497	.	.	.	4.42	2.09	0.27110	.	0.074613	0.53938	D	0.000055	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.09084	T	0.74	.	11.3279	0.49458	0.0:0.0:0.6469:0.3531	.	.	.	.	X	227;147;159	.	ENSP00000261497:K159X	K	-	1	0	USP22	20863034	1.000000	0.71417	0.997000	0.53966	0.871000	0.50021	5.137000	0.64789	0.549000	0.28973	0.455000	0.32223	AAG		0.478	USP22-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444169.1			51	78	0	0	0	1	0	51	78					A	20922442	T	A	20922442	4	1	252	1	0	0	0	0	0	1	0	0	17051	1792	62	5	1142	5	USP22	17	20922442	Nonsense_Mutation	SNP	T	TCGA-HC-A76X-01A-11D-A33T-08		20922442	60272768	36	11832											
DNAH17	8632	broad.mit.edu	37	chr17	76455960	76455960	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cttgcccatcatgatcttggCcgccttccagctcttgtcct	4	14	7	16	1	3	1	1	1	2	0	5	1	5	1	5	1	2	1	5	1	0	4			TCGA-HC-A76X-01A-11D-A33T-08	TCGA-HC-A76X-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d9192ed-c94c-472c-b614-fc31cc044d3b	f337b49f-54b4-4a3f-9b2e-075249ea8f13	g.chr17:76455960C>T	ENST00000585328.1	-	60	9668	c.9544G>A	c.(9544-9546)Gcc>Acc	p.A3182T	DNAH17_ENST00000586052.1_5'UTR|DNAH17_ENST00000389840.5_Missense_Mutation_p.A3173T	NM_173628.3	NP_775899.3	Q9UFH2	DYH17_HUMAN	dynein, axonemal, heavy chain 17	3173	Stalk. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			ATGATCTTGGCCGCCTTCCAG	0.592																																						ENST00000389840.5																			0				NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116						c.(9517-9519)Gcc>Acc		dynein, axonemal, heavy chain 17							132	98	109					17																	76455960		2203	4300	6503	SO:0001583	missense	8632							g.chr17:76455960C>T	AJ000522		17q25.3	2012-04-19	2006-09-04		ENSG00000187775	ENSG00000187775		"Axonemal dyneins"	2946	protein-coding gene	gene with protein product		610063	"dynein, axonemal, heavy polypeptide 17", "dynein, axonemal, heavy chain like 1", "dynein, axonemal, heavy like 1"	DNAHL1		9545504	Standard	NM_173628		Approved	DNEL2, FLJ40457	uc010dhp.2	Q9UFH2		ENST00000585328.1:c.9544G>A	17.37:g.76455960C>T	ENSP00000465516:p.Ala3182Thr					DNAH17_ENST00000586052.1_5'UTR|DNAH17_ENST00000585328.1_Missense_Mutation_p.A3182T	p.A3173T					BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)		60	9641	-								O00431|O15206|Q2M2Y1|Q6ZRQ2|Q8N7Q7	Missense_Mutation	SNP	ENST00000585328.1	37	c.9517G>A		.	.	.	.	.	.	.	.	.	.	C	19.42	3.824649	0.71143	.	.	ENSG00000187775	ENST00000300671;ENST00000389840	T	0.80214	-1.35	4.89	4.89	0.63831	.	0.111371	0.39759	N	0.001267	D	0.89577	0.6755	M	0.94063	3.49	0.32466	N	0.543507	P	0.43392	0.805	P	0.49477	0.612	D	0.93724	0.7035	10	0.66056	D	0.02	.	17.6619	0.88195	0.0:1.0:0.0:0.0	.	3182	E7EUM8	.	T	3182;3173	ENSP00000374490:A3173T	ENSP00000300671:A3182T	A	-	1	0	DNAH17	73967555	0.996000	0.38824	0.088000	0.20740	0.917000	0.54804	3.429000	0.52800	2.243000	0.73865	0.511000	0.50034	GCC		0.592	DNAH17-001	PUTATIVE	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000318962.2	NM_173628		3	44	0	0	0	1	0	3	44					T	76455960	C	T	76455960	3	4	252	1	0	0	0	0	1	0	0	0	4601	739	26	3	3917	3	DNAH17	17	76455960	Missense_Mutation	SNP	C	TCGA-HC-A76X-01A-11D-A33T-08	55533518	76455960	4739250	37	11833											
SLC1A6	6511	broad.mit.edu	37	chr19	15072861	15072861	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atagcctcattgaggctgtcGaagaagtccctgaggactct	10	10	11	10	1	2	3	1	2	1	1	4	5	3	4	2	2	1	1	2	2	3	2			TCGA-HC-A76X-01A-11D-A33T-08	TCGA-HC-A76X-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d9192ed-c94c-472c-b614-fc31cc044d3b	f337b49f-54b4-4a3f-9b2e-075249ea8f13	g.chr19:15072861G>A	ENST00000221742.3	-	5	895	c.888C>T	c.(886-888)ttC>ttT	p.F296F	SLC1A6_ENST00000600144.1_Silent_p.F296F|SLC1A6_ENST00000544886.2_Silent_p.F296F|SLC1A6_ENST00000598504.1_Silent_p.F296F|SLC1A6_ENST00000430939.2_Silent_p.F232F	NM_005071.1	NP_005062.1	P48664	EAA4_HUMAN	solute carrier family 1 (high affinity aspartate/glutamate transporter), member 6	296					aspartate transport (GO:0015810)|ion transport (GO:0006811)|L-glutamate transport (GO:0015813)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	L-aspartate transmembrane transporter activity (GO:0015183)|L-glutamate transmembrane transporter activity (GO:0005313)|sodium:dicarboxylate symporter activity (GO:0017153)			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(8)|liver(1)|lung(12)|ovary(3)|pancreas(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42						TGAGGCTGTCGAAGAAGTCCC	0.572																																						ENST00000598504.1																			0				breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(8)|liver(1)|lung(12)|ovary(3)|pancreas(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42						c.(886-888)ttC>ttT		solute carrier family 1 (high affinity aspartate/glutamate transporter), member 6	L-Glutamic Acid(DB00142)						92	87	89					19																	15072861		2203	4300	6503	SO:0001819	synonymous_variant	6511				synaptic transmission	integral to plasma membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|L-aspartate transmembrane transporter activity|sodium:dicarboxylate symporter activity	g.chr19:15072861G>A		CCDS12321.1, CCDS62578.1	19p13.12	2013-07-15			ENSG00000105143	ENSG00000105143		"Solute carriers"	10944	protein-coding gene	gene with protein product		600637				7791878	Standard	NM_005071		Approved	EAAT4	uc002naa.2	P48664	OTTHUMG00000183351	ENST00000221742.3:c.888C>T	19.37:g.15072861G>A						SLC1A6_ENST00000221742.3_Silent_p.F296F|SLC1A6_ENST00000544886.2_Silent_p.F296F|SLC1A6_ENST00000430939.2_Silent_p.F232F|SLC1A6_ENST00000600144.1_Silent_p.F296F	p.F296F	NM_001272087.1	NP_001259016.1	P48664	EAA4_HUMAN			8	2247	-			296					Q8N753	Silent	SNP	ENST00000221742.3	37	c.888C>T	CCDS12321.1																																																																																				0.572	SLC1A6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466283.1	NM_005071		8	62	0	0	0	1	0	8	62					A	15072861	G	A	15072861	2	1	252	1	0	0	0	0	0	0	0	1	14436	1049	37	2		2	SLC1A6	19	15072861	Silent	SNP	G	TCGA-HC-A76X-01A-11D-A33T-08		15072861	44056122	38	11834											
LSR	51599	broad.mit.edu	37	chr19	35739951	35739951	+	Frame_Shift_Del	DEL	C	C	-																															gctgttggccggcgggctctCcagagggctgggctcccacc																										TCGA-HC-A76X-01A-11D-A33T-08	TCGA-HC-A76X-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d9192ed-c94c-472c-b614-fc31cc044d3b	f337b49f-54b4-4a3f-9b2e-075249ea8f13	g.chr19:35739951delC	ENST00000361790.3	+	1	329	c.170delC	c.(169-171)tccfs	p.S57fs	LSR_ENST00000427250.1_Frame_Shift_Del_p.S9fs|LSR_ENST00000354900.3_Frame_Shift_Del_p.S57fs|AC002128.5_ENST00000604161.1_RNA|LSR_ENST00000602122.1_Frame_Shift_Del_p.S57fs|LSR_ENST00000597933.1_Intron|LSR_ENST00000360798.3_Frame_Shift_Del_p.S57fs|LSR_ENST00000347609.4_Intron	NM_205834.3	NP_991403.1	Q86X29	LSR_HUMAN	lipolysis stimulated lipoprotein receptor	57					embryo development (GO:0009790)|liver development (GO:0001889)	chylomicron (GO:0042627)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|low-density lipoprotein particle (GO:0034362)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	13	all_lung(56;3.91e-09)|Lung NSC(56;5.64e-09)|Esophageal squamous(110;0.162)		Epithelial(14;1.33e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.29e-18)|all cancers(14;7.11e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417)			GGCGGGCTCTCCAGAGGGCTG	0.736																																						ENST00000602122.1																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	13						c.(169-171)tcfs		lipolysis stimulated lipoprotein receptor							6	8	7					19																	35739951		2119	4116	6235	SO:0001589	frameshift_variant	51599				embryo development|liver development	chylomicron|integral to membrane|low-density lipoprotein particle|plasma membrane|very-low-density lipoprotein particle	receptor activity	g.chr19:35739951delC	AF130366	CCDS12449.1, CCDS12450.1, CCDS12451.1, CCDS59376.1	19q13.12	2013-01-11			ENSG00000105699	ENSG00000105699		"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	29572	protein-coding gene	gene with protein product	"lipolysis-stimulated remnant", "immunoglobulin-like domain containing receptor 3"					10224102	Standard	NM_015925		Approved	LISCH7, ILDR3	uc002nyl.3	Q86X29		ENST00000361790.3:c.170delC	19.37:g.35739951delC	ENSP00000354575:p.Ser57fs					LSR_ENST00000361790.3_Frame_Shift_Del_p.S57fs|LSR_ENST00000360798.3_Frame_Shift_Del_p.S57fs|LSR_ENST00000354900.3_Frame_Shift_Del_p.S57fs|LSR_ENST00000347609.4_Intron|LSR_ENST00000597933.1_Intron|LSR_ENST00000427250.1_Frame_Shift_Del_p.S9fs	p.S57fs			Q86X29	LSR_HUMAN	Epithelial(14;1.33e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.29e-18)|all cancers(14;7.11e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417)		1	657	+	all_lung(56;3.91e-09)|Lung NSC(56;5.64e-09)|Esophageal squamous(110;0.162)		57					A6NDW3|B4DKL4|E9PHD4|O00112|O00426|Q6ZT80|Q8NBM0|Q9BT33|Q9UQL3	Frame_Shift_Del	DEL	ENST00000361790.3	37	c.170delC	CCDS12450.1																																																																																				0.736	LSR-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465513.2	NM_015925		2	4						2	4	---	---	---	---	-	35739951	C	-	35739951	7	5	252	1	0	1	0	1	0	0	0	0	9064	855	30	0	172	0	LSR	19	35739951	Frame_Shift_Del	DEL	C	TCGA-HC-A76X-01A-11D-A33T-08	20667090	35739951	23389032	39	11835											
SHANK1	50944	broad.mit.edu	37	chr19	51200916	51200916	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tctctttgccttgtcactgcGgctttctgcagggtgacaac	5	14	10	12	1	3	1	1	1	2	0	4	1	3	1	1	2	4	2	1	2	1	3			TCGA-HC-A76X-01A-11D-A33T-08	TCGA-HC-A76X-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d9192ed-c94c-472c-b614-fc31cc044d3b	f337b49f-54b4-4a3f-9b2e-075249ea8f13	g.chr19:51200916G>A	ENST00000293441.1	-	13	1885	c.1867C>T	c.(1867-1869)Cgc>Tgc	p.R623C	SHANK1_ENST00000359082.3_Missense_Mutation_p.R623C|SHANK1_ENST00000391814.1_Missense_Mutation_p.R623C	NM_016148.2	NP_057232.2	Q9Y566	SHAN1_HUMAN	SH3 and multiple ankyrin repeat domains 1	623					adult behavior (GO:0030534)|associative learning (GO:0008306)|cytoskeletal anchoring at plasma membrane (GO:0007016)|dendritic spine morphogenesis (GO:0060997)|determination of affect (GO:0050894)|habituation (GO:0046959)|long-term memory (GO:0007616)|negative regulation of actin filament bundle assembly (GO:0032232)|neuromuscular process controlling balance (GO:0050885)|olfactory behavior (GO:0042048)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|protein complex assembly (GO:0006461)|protein localization to synapse (GO:0035418)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|righting reflex (GO:0060013)|social behavior (GO:0035176)|synapse maturation (GO:0060074)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|excitatory synapse (GO:0060076)|intracellular (GO:0005622)|membrane (GO:0016020)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	ankyrin repeat binding (GO:0071532)|GKAP/Homer scaffold activity (GO:0030160)|identical protein binding (GO:0042802)|ionotropic glutamate receptor binding (GO:0035255)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|scaffold protein binding (GO:0097110)|SH3 domain binding (GO:0017124)|somatostatin receptor binding (GO:0031877)			breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		TTGTCACTGCGGCTTTCTGCA	0.542																																						ENST00000293441.1																			0				breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64						c.(1867-1869)Cgc>Tgc		SH3 and multiple ankyrin repeat domains 1							112	111	112					19																	51200916		2203	4300	6503	SO:0001583	missense	50944				cytoskeletal anchoring at plasma membrane	cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane	ionotropic glutamate receptor binding	g.chr19:51200916G>A	AF163302	CCDS12799.1	19q13.3	2013-01-10			ENSG00000161681	ENSG00000161681		"Sterile alpha motif (SAM) domain containing", "Ankyrin repeat domain containing"	15474	protein-coding gene	gene with protein product	"somatostatin receptor-interacting protein"	604999				10551867	Standard	NM_016148		Approved	SSTRIP, SPANK-1, synamon	uc002psx.1	Q9Y566	OTTHUMG00000137380	ENST00000293441.1:c.1867C>T	19.37:g.51200916G>A	ENSP00000293441:p.Arg623Cys					SHANK1_ENST00000391814.1_Missense_Mutation_p.R623C|SHANK1_ENST00000359082.3_Missense_Mutation_p.R623C	p.R623C	NM_016148.2	NP_057232.2	Q9Y566	SHAN1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)	13	1885	-		all_neural(266;0.057)	623					A8MXP5|B7WNY6|Q9NYW9	Missense_Mutation	SNP	ENST00000293441.1	37	c.1867C>T	CCDS12799.1	.	.	.	.	.	.	.	.	.	.	G	14.61	2.587108	0.46110	.	.	ENSG00000161681	ENST00000293441;ENST00000359082;ENST00000391814	T;T;T	0.50277	0.86;0.89;0.75	3.19	3.19	0.36642	Src homology-3 domain (1);	0.000000	0.64402	U	0.000011	T	0.60856	0.2301	L	0.52905	1.665	0.58432	D	0.999999	D	0.89917	1.0	D	0.79784	0.993	T	0.64812	-0.6319	10	0.87932	D	0	-24.8006	11.7413	0.51794	0.0:0.0:1.0:0.0	.	623	Q9Y566	SHAN1_HUMAN	C	623	ENSP00000293441:R623C;ENSP00000351984:R623C;ENSP00000375690:R623C	ENSP00000293441:R623C	R	-	1	0	SHANK1	55892728	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.316000	0.59178	1.793000	0.52555	0.556000	0.70494	CGC		0.542	SHANK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268071.1	NM_016148		5	65	0	0	0	1	0	5	65					A	51200916	G	A	51200916	3	1	252	1	0	0	0	0	1	0	0	0	14264	1116	39	2	4662	2	SHANK1	19	51200916	Missense_Mutation	SNP	G	TCGA-HC-A76X-01A-11D-A33T-08	15460965	51200916	7928067	40	11836											
MCM8	84515	broad.mit.edu	37	chr20	5967931	5967931	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtgttttcttttaaaggcaCgagcaaggttggaattgaga	11	13	13	4	1	1	1	0	1	1	1	1	4	1	2	0	4	1	4	0	4	4	6			TCGA-HC-A76X-01A-11D-A33T-08	TCGA-HC-A76X-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d9192ed-c94c-472c-b614-fc31cc044d3b	f337b49f-54b4-4a3f-9b2e-075249ea8f13	g.chr20:5967931C>T	ENST00000378896.3	+	17	2544	c.2167C>T	c.(2167-2169)Cga>Tga	p.R723*	MCM8_ENST00000378883.1_Nonsense_Mutation_p.R676*|MCM8_ENST00000378886.2_Nonsense_Mutation_p.R763*|MCM8_ENST00000265187.4_Nonsense_Mutation_p.R707*	NM_001281520.1|NM_032485.4|NM_182802.1	NP_001268449.1|NP_115874.3|NP_877954.1	Q9UJA3	MCM8_HUMAN	minichromosome maintenance complex component 8	723					cellular response to DNA damage stimulus (GO:0006974)|DNA replication (GO:0006260)|DNA strand elongation involved in DNA replication (GO:0006271)|double-strand break repair via homologous recombination (GO:0000724)|female gamete generation (GO:0007292)|G1/S transition of mitotic cell cycle (GO:0000082)|male gamete generation (GO:0048232)|mitotic cell cycle (GO:0000278)	MCM8-MCM9 complex (GO:0097362)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	23						TTTAAAGGCACGAGCAAGGTT	0.308																																						ENST00000378896.3																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	23						c.(2167-2169)Cga>Tga		minichromosome maintenance complex component 8							116	121	119					20																	5967931		2203	4300	6503	SO:0001587	stop_gained	84515				cell cycle checkpoint|DNA strand elongation involved in DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|regulation of transcription, DNA-dependent|S phase of mitotic cell cycle|transcription, DNA-dependent	nucleoplasm	ATP binding|DNA binding|nucleoside-triphosphatase activity	g.chr20:5967931C>T	AJ439063	CCDS13094.1, CCDS13095.1, CCDS63226.1, CCDS63227.1	20p12.3	2007-04-04	2007-04-04	2003-07-09	ENSG00000125885	ENSG00000125885			16147	protein-coding gene	gene with protein product	"REC homolog (Drosophila)"	608187	"chromosome 20 open reading frame 154"	C20orf154		12527764	Standard	NM_032485		Approved	MGC4816, MGC12866, MGC119522, MGC119523, dJ967N21.5, REC	uc002wmi.3	Q9UJA3	OTTHUMG00000031822	ENST00000378896.3:c.2167C>T	20.37:g.5967931C>T	ENSP00000368174:p.Arg723*					MCM8_ENST00000378886.2_Nonsense_Mutation_p.R763*|MCM8_ENST00000265187.4_Nonsense_Mutation_p.R707*|MCM8_ENST00000378883.1_Nonsense_Mutation_p.R676*	p.R723*	NM_032485.4|NM_182802.1	NP_115874.3|NP_877954.1	Q9UJA3	MCM8_HUMAN			17	2544	+			723					B2RBG7|D3DW08|E7EQU7|Q495R4|Q495R6|Q495R7|Q86US4|Q969I5	Nonsense_Mutation	SNP	ENST00000378896.3	37	c.2167C>T	CCDS13094.1	.	.	.	.	.	.	.	.	.	.	C	42	9.577314	0.99210	.	.	ENSG00000125885	ENST00000378896;ENST00000378883;ENST00000378886;ENST00000265187	.	.	.	5.73	4.79	0.61399	.	0.063541	0.64402	D	0.000010	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-12.219	13.0894	0.59158	0.0:0.9259:0.0:0.0741	.	.	.	.	X	723;676;763;707	.	ENSP00000265187:R707X	R	+	1	2	MCM8	5915931	1.000000	0.71417	1.000000	0.80357	0.883000	0.51084	5.312000	0.65792	1.424000	0.47217	-0.140000	0.14226	CGA		0.308	MCM8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000077900.1	NM_032485		4	50	0	0	0	1	0	4	50					T	5967931	C	T	5967931	4	4	252	1	0	0	0	0	0	1	0	0	9393	528	19	1	2229	1	MCM8	20	5967931	Nonsense_Mutation	SNP	C	TCGA-HC-A76X-01A-11D-A33T-08		5967931	57057589	41	11837											
L3MBTL	26013	broad.mit.edu	37	chr20	42168798	42168798	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctgctttccagccctcacGcccgatgtcgtgcaccagtc	5	10	8	18	3	2	0	1	0	1	0	5	1	3	0	4	0	3	2	4	0	0	1			TCGA-HC-A76X-01A-11D-A33T-08	TCGA-HC-A76X-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d9192ed-c94c-472c-b614-fc31cc044d3b	f337b49f-54b4-4a3f-9b2e-075249ea8f13	g.chr20:42168798G>A	ENST00000427442.2	+	20	2274	c.2115G>A	c.(2113-2115)acG>acA	p.T705T	L3MBTL1_ENST00000444063.1_Silent_p.T637T|L3MBTL1_ENST00000373135.3_Silent_p.T637T|L3MBTL1_ENST00000418998.1_Silent_p.T705T|L3MBTL1_ENST00000373134.1_Silent_p.T642T			Q9Y468	LMBL1_HUMAN	l(3)mbt-like 1 (Drosophila)	637	SAM. {ECO:0000255|PROSITE- ProRule:PRU00184}.				chromatin modification (GO:0016568)|hemopoiesis (GO:0030097)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of cell cycle (GO:0051726)|regulation of megakaryocyte differentiation (GO:0045652)|regulation of mitosis (GO:0007088)|transcription, DNA-templated (GO:0006351)	chromatin (GO:0000785)|condensed chromosome (GO:0000793)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|histone binding (GO:0042393)|identical protein binding (GO:0042802)|methylated histone binding (GO:0035064)|nucleosomal histone binding (GO:0031493)|nucleosome binding (GO:0031491)|SAM domain binding (GO:0032093)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(1)|large_intestine(3)|ovary(1)|skin(2)	7						CAGCCCTCACGCCCGATGTCG	0.617																																						ENST00000444063.1																			0				breast(1)|large_intestine(3)|ovary(1)|skin(2)	7						c.(1909-1911)acG>acA		l(3)mbt-like 1 (Drosophila)							84	60	68					20																	42168798		2203	4300	6503	SO:0001819	synonymous_variant	26013				chromatin modification|hemopoiesis|negative regulation of transcription, DNA-dependent|regulation of megakaryocyte differentiation|regulation of mitosis	chromatin|condensed chromosome|nucleoplasm	identical protein binding|methylated histone residue binding|nucleosomal histone binding|SAM domain binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr20:42168798G>A	U89358	CCDS13319.1, CCDS46602.1, CCDS46602.2	20q13.12	2013-01-10	2010-09-03	2010-09-03	ENSG00000185513	ENSG00000185513		"Zinc fingers, C2HC-type containing", "Sterile alpha motif (SAM) domain containing"	15905	protein-coding gene	gene with protein product	"lethal (3) malignant brain tumor l(3)"	608802	"l(3)mbt (Drosophila)-like", "l(3)mbt-like (Drosophila)"	L3MBTL		10445843, 17540172	Standard	NM_032107		Approved	ZC2HC3, dJ138B7.3, DKFZp586P1522, KIAA0681	uc010zwh.2	Q9Y468	OTTHUMG00000032503	ENST00000427442.2:c.2115G>A	20.37:g.42168798G>A						L3MBTL1_ENST00000373134.1_Silent_p.T642T|L3MBTL1_ENST00000373135.3_Silent_p.T637T|L3MBTL1_ENST00000418998.1_Silent_p.T705T|L3MBTL1_ENST00000427442.2_Silent_p.T705T	p.T637T			Q9Y468	LMBL1_HUMAN			17	2043	+			637					B4DRC9|E1P5W7|Q5H8Y8|Q5H8Y9|Q8IUV7|Q9H1E6|Q9H1G5|Q9UG06|Q9UJB9|Q9Y4C9	Silent	SNP	ENST00000427442.2	37	c.1911G>A	CCDS46602.2																																																																																				0.617	L3MBTL1-007	KNOWN	upstream_ATG|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079300.3	NM_032107		15	18	0	0	0	1	0	15	18					A	42168798	G	A	42168798	2	1	252	1	0	0	0	0	0	0	0	1	8591	1074	38	1		1	L3MBTL	20	42168798	Silent	SNP	G	TCGA-HC-A76X-01A-11D-A33T-08	36200867	42168798	20856722	42	11838											
RENBP	5973	broad.mit.edu	37	chrX	153208481	153208481	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggccggcccagtcccgacgcGtcctcctgcacccagtggac	5	5	12	19	4	0	0	0	0	0	0	3	2	3	1	6	3	1	1	6	3	0	0	rs373960327		TCGA-HC-A76X-01A-11D-A33T-08	TCGA-HC-A76X-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d9192ed-c94c-472c-b614-fc31cc044d3b	f337b49f-54b4-4a3f-9b2e-075249ea8f13	g.chrX:153208481G>A	ENST00000393700.3	-	6	593	c.513C>T	c.(511-513)gaC>gaT	p.D171D	RENBP_ENST00000462086.1_5'UTR|RENBP_ENST00000369997.3_Silent_p.D157D|RENBP_ENST00000412763.1_Silent_p.D171D	NM_002910.5	NP_002901.2	P51606	RENBP_HUMAN	renin binding protein	171					N-acetylglucosamine metabolic process (GO:0006044)|N-acetylmannosamine metabolic process (GO:0006051)|N-acetylneuraminate catabolic process (GO:0019262)|regulation of blood pressure (GO:0008217)	extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|endopeptidase inhibitor activity (GO:0004866)|N-acylglucosamine 2-epimerase activity (GO:0050121)			breast(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	20	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)				N-Acetyl-D-glucosamine(DB00141)	GTCCCGACGCGTCCTCCTGCA	0.687																																						ENST00000393700.3																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	20						c.(511-513)gaC>gaT		renin binding protein	N-Acetyl-D-glucosamine(DB00141)	G		0,3827		0,0,1631,565	22	19	20		513	3	1	X		20	1,6716		0,1,2425,1865	no	coding-synonymous	RENBP	NM_002910.5		0,1,4056,2430	AA,AG,GG,G		0.0149,0.0,0.0095		171/428	153208481	1,10543	2196	4291	6487	SO:0001819	synonymous_variant	5973				mannose metabolic process|regulation of blood pressure		endopeptidase inhibitor activity|mannose-6-phosphate isomerase activity|N-acylglucosamine 2-epimerase activity	g.chrX:153208481G>A		CCDS14738.2	Xq28	2013-09-23	2001-11-28		ENSG00000102032	ENSG00000102032			9959	protein-coding gene	gene with protein product	"N-acylglucosamine 2-epimerase", "GlcNAc 2-epimerase", "N-acetyl-D-glucosamine 2-epimerase"	312420	"renin-binding protein"			1618798	Standard	NM_002910		Approved	RNBP, RBP	uc004fjo.2	P51606	OTTHUMG00000024224	ENST00000393700.3:c.513C>T	X.37:g.153208481G>A						RENBP_ENST00000369997.3_Silent_p.D157D|RENBP_ENST00000412763.1_Silent_p.D171D|RENBP_ENST00000462086.1_5'UTR	p.D171D	NM_002910.5	NP_002901.2	P51606	RENBP_HUMAN			6	593	-	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		171					B4DNZ3|Q96BI6	Silent	SNP	ENST00000393700.3	37	c.513C>T	CCDS14738.2																																																																																				0.687	RENBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061103.3	NM_002910		11	1	0	0	0	1	0	11	1					A	153208481	G	A	153208481	2	1	252	1	0	0	0	0	0	0	0	1	13225	1136	40	1		1	RENBP	23	153208481	Silent	SNP	G	TCGA-HC-A76X-01A-11D-A33T-08		153208481	2062079	43	11839											
CHRNB2	1141	broad.mit.edu	37	chr1	154543704	154543704	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgtccttctattccaatgcCgtggtctcctatgatggcag	6	14	10	11	1	2	1	0	1	2	0	5	1	4	1	4	2	1	1	4	2	3	4			TCGA-HC-A8CY-01A-11D-A364-08	TCGA-HC-A8CY-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ff7f1d-b776-4a67-9927-4071226f30f4	2cacf700-84ab-4917-8c2e-0f38205063dd	g.chr1:154543704C>T	ENST00000368476.3	+	5	669	c.405C>T	c.(403-405)gcC>gcT	p.A135A		NM_000748.2	NP_000739.1	P17787	ACHB2_HUMAN	cholinergic receptor, nicotinic, beta 2 (neuronal)	135					action potential (GO:0001508)|associative learning (GO:0008306)|B cell activation (GO:0042113)|behavioral response to nicotine (GO:0035095)|calcium ion transport (GO:0006816)|cation transmembrane transport (GO:0098655)|central nervous system projection neuron axonogenesis (GO:0021952)|cognition (GO:0050890)|conditioned taste aversion (GO:0001661)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|lateral geniculate nucleus development (GO:0021771)|learning (GO:0007612)|locomotory behavior (GO:0007626)|membrane depolarization (GO:0051899)|memory (GO:0007613)|negative regulation of action potential (GO:0045759)|neurological system process (GO:0050877)|optic nerve morphogenesis (GO:0021631)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of dopamine secretion (GO:0033603)|positive regulation of synaptic transmission, dopaminergic (GO:0032226)|protein heterooligomerization (GO:0051291)|regulation of circadian sleep/wake cycle, non-REM sleep (GO:0045188)|regulation of circadian sleep/wake cycle, REM sleep (GO:0042320)|regulation of dendrite morphogenesis (GO:0048814)|regulation of dopamine metabolic process (GO:0042053)|regulation of dopamine secretion (GO:0014059)|regulation of synapse assembly (GO:0051963)|regulation of synaptic transmission, dopaminergic (GO:0032225)|response to cocaine (GO:0042220)|response to ethanol (GO:0045471)|response to hypoxia (GO:0001666)|response to nicotine (GO:0035094)|sensory perception of pain (GO:0019233)|sensory perception of sound (GO:0007605)|signal transduction (GO:0007165)|smooth muscle contraction (GO:0006939)|social behavior (GO:0035176)|synaptic transmission (GO:0007268)|synaptic transmission involved in micturition (GO:0060084)|synaptic transmission, cholinergic (GO:0007271)|vestibulocochlear nerve development (GO:0021562)|visual learning (GO:0008542)|visual perception (GO:0007601)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|drug binding (GO:0008144)|ligand-gated ion channel activity (GO:0015276)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|skin(1)|urinary_tract(3)	28	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		LUSC - Lung squamous cell carcinoma(543;0.185)		Dextromethorphan(DB00514)|Galantamine(DB00674)|Nicotine(DB00184)	ATTCCAATGCCGTGGTCTCCT	0.532																																						ENST00000368476.3																			0				cervix(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|skin(1)|urinary_tract(3)	28						c.(403-405)gcC>gcT		cholinergic receptor, nicotinic, beta 2 (neuronal)	Nicotine(DB00184)						132	121	125					1																	154543704		2203	4300	6503	SO:0001819	synonymous_variant	1141				B cell activation|behavioral response to nicotine|calcium ion transport|central nervous system projection neuron axonogenesis|lateral geniculate nucleus development|locomotory behavior|membrane depolarization|memory|negative regulation of action potential|optic nerve morphogenesis|positive regulation of B cell proliferation|positive regulation of dopamine secretion|regulation of circadian sleep/wake cycle, REM sleep|regulation of dendrite morphogenesis|regulation of dopamine metabolic process|regulation of synaptogenesis|response to cocaine|response to ethanol|response to hypoxia|sensory perception of pain|sensory perception of sound|smooth muscle contraction|social behavior|synaptic transmission involved in micturition|synaptic transmission, cholinergic|vestibulocochlear nerve development|visual learning|visual perception	cell junction|external side of plasma membrane|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity	g.chr1:154543704C>T	U62437	CCDS1070.1	1q21.3	2012-02-11	2006-02-01		ENSG00000160716	ENSG00000160716		"Cholinergic receptors", "Ligand-gated ion channels / Acetylcholine receptors, nicotinic"	1962	protein-coding gene	gene with protein product	"acetylcholine receptor, nicotinic, beta 2 (neuronal)"	118507	"cholinergic receptor, nicotinic, beta polypeptide 2 (neuronal)"			1505988	Standard	NM_000748		Approved		uc001ffg.3	P17787	OTTHUMG00000037262	ENST00000368476.3:c.405C>T	1.37:g.154543704C>T							p.A135A	NM_000748.2	NP_000739.1	P17787	ACHB2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.185)		5	669	+	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		135					Q9UEH9	Silent	SNP	ENST00000368476.3	37	c.405C>T	CCDS1070.1																																																																																				0.532	CHRNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090697.1	NM_000748		33	77	0	0	0	1	0	33	77					T	154543704	C	T	154543704	2	4	253	1	0	0	0	0	0	0	0	1	3391	639	23	2		2	CHRNB2	1	154543704	Silent	SNP	C	TCGA-HC-A8CY-01A-11D-A364-08		154543704	94706917	1	11840											
EFNA3	1944	broad.mit.edu	37	chr1	155057707	155057707	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agagcagtacgtgctgtacaTggtgagccgcaacggctacc	10	7	13	11	3	0	2	0	1	0	1	0	2	0	2	2	2	7	6	2	2	4	3			TCGA-HC-A8CY-01A-11D-A364-08	TCGA-HC-A8CY-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ff7f1d-b776-4a67-9927-4071226f30f4	2cacf700-84ab-4917-8c2e-0f38205063dd	g.chr1:155057707T>C	ENST00000368408.3	+	2	339	c.269T>C	c.(268-270)aTg>aCg	p.M90T	EFNA3_ENST00000418360.2_Missense_Mutation_p.M90T|EFNA3_ENST00000505139.1_Missense_Mutation_p.M85T|EFNA3_ENST00000556931.1_Missense_Mutation_p.M85T	NM_004952.4	NP_004943.1	P52797	EFNA3_HUMAN	ephrin-A3	90	Ephrin RBD. {ECO:0000255|PROSITE- ProRule:PRU00884}.				axon guidance (GO:0007411)|cell-cell signaling (GO:0007267)|ephrin receptor signaling pathway (GO:0048013)	anchored component of membrane (GO:0031225)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ephrin receptor binding (GO:0046875)|transmembrane-ephrin receptor activity (GO:0005005)			breast(1)|central_nervous_system(1)|large_intestine(1)|lung(2)	5	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		all cancers(21;5.67e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000284)|LUSC - Lung squamous cell carcinoma(543;0.193)			GTGCTGTACATGGTGAGCCGC	0.677																																						ENST00000368408.3																			0				breast(1)|central_nervous_system(1)|large_intestine(1)|lung(2)	5						c.(268-270)aTg>aCg		ephrin-A3							17	20	19					1																	155057707		2198	4295	6493	SO:0001583	missense	1944				cell-cell signaling	anchored to membrane|integral to plasma membrane	ephrin receptor binding|transmembrane-ephrin receptor activity	g.chr1:155057707T>C	BC017722	CCDS1090.1	1q21-q22	2011-03-09			ENSG00000143590	ENSG00000143590		"Ephrins"	3223	protein-coding gene	gene with protein product		601381		EPLG3		8660976	Standard	NM_004952		Approved	LERK3, Ehk1-L	uc001fhf.3	P52797	OTTHUMG00000035313	ENST00000368408.3:c.269T>C	1.37:g.155057707T>C	ENSP00000357393:p.Met90Thr					EFNA3_ENST00000505139.1_Missense_Mutation_p.M85T|EFNA3_ENST00000556931.1_Missense_Mutation_p.M85T|EFNA3_ENST00000418360.2_Missense_Mutation_p.M90T	p.M90T	NM_004952.4	NP_004943.1	P52797	EFNA3_HUMAN	all cancers(21;5.67e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000284)|LUSC - Lung squamous cell carcinoma(543;0.193)		2	339	+	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		90					B7ZAD3|D3DV85|Q0VGC9|Q5SR70	Missense_Mutation	SNP	ENST00000368408.3	37	c.269T>C	CCDS1090.1	.	.	.	.	.	.	.	.	.	.	T	17.53	3.412972	0.62511	.	.	ENSG00000143590;ENSG00000143590;ENSG00000143590;ENSG00000251246	ENST00000556931;ENST00000368408;ENST00000418360;ENST00000505139	D;D;D;D	0.93859	-3.3;-3.3;-3.3;-3.3	5.38	5.38	0.77491	Cupredoxin (2);	0.000000	0.85682	D	0.000000	D	0.96571	0.8881	M	0.88105	2.93	0.58432	D	0.999995	D;D;D	0.76494	0.977;0.999;0.996	D;D;D	0.85130	0.979;0.997;0.993	D	0.97398	0.9994	10	0.87932	D	0	-3.4517	13.3327	0.60497	0.0:0.0:0.0:1.0	.	90;85;90	B7ZAD3;B4DXG7;P52797	.;.;EFNA3_HUMAN	T	85;90;90;85	ENSP00000450814:M85T;ENSP00000357393:M90T;ENSP00000391370:M90T;ENSP00000426741:M85T	ENSP00000357393:M90T	M	+	2	0	RP11-540D14.8;EFNA3	153324331	1.000000	0.71417	1.000000	0.80357	0.034000	0.12701	7.698000	0.84413	2.050000	0.60909	0.459000	0.35465	ATG		0.677	EFNA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000085429.1	NM_004952		5	19	0	0	0	1	0	5	19					C	155057707	T	C	155057707	3	2	253	1	0	0	0	0	1	0	0	0	4952	1464	51	4	275	4	EFNA3	1	155057707	Missense_Mutation	SNP	T	TCGA-HC-A8CY-01A-11D-A364-08	514003	155057707	94192914	2	11841											
STAT1	6772	broad.mit.edu	37	chr2	191851586	191851586	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	actgatgtccctaccaggtgCcgaaattcagccgccagact	10	8	9	14	2	1	2	1	1	0	1	2	3	2	2	5	1	3	0	5	1	2	2			TCGA-HC-A8CY-01A-11D-A364-08	TCGA-HC-A8CY-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ff7f1d-b776-4a67-9927-4071226f30f4	2cacf700-84ab-4917-8c2e-0f38205063dd	g.chr2:191851586C>T	ENST00000361099.3	-	14	1602	c.1215G>A	c.(1213-1215)cgG>cgA	p.R405R	STAT1_ENST00000392322.3_Silent_p.R405R|STAT1_ENST00000540176.1_3'UTR|STAT1_ENST00000392323.2_Silent_p.R407R|STAT1_ENST00000409465.1_Silent_p.R405R	NM_007315.3	NP_009330.1	P42224	STAT1_HUMAN	signal transducer and activator of transcription 1, 91kDa	405					apoptotic process (GO:0006915)|blood circulation (GO:0008015)|cellular response to insulin stimulus (GO:0032869)|cellular response to interferon-beta (GO:0035458)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|metanephric mesenchymal cell differentiation (GO:0072162)|metanephric mesenchymal cell proliferation involved in metanephros development (GO:0072136)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of macrophage fusion (GO:0034240)|negative regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003340)|negative regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072308)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of apoptotic process (GO:0042981)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|renal tubule development (GO:0061326)|response to cAMP (GO:0051591)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to exogenous dsRNA (GO:0043330)|response to hydrogen peroxide (GO:0042542)|response to mechanical stimulus (GO:0009612)|response to nutrient (GO:0007584)|response to peptide hormone (GO:0043434)|transcription from RNA polymerase II promoter (GO:0006366)|tumor necrosis factor-mediated signaling pathway (GO:0033209)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity (GO:0000983)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|tumor necrosis factor receptor binding (GO:0005164)			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39			OV - Ovarian serous cystadenocarcinoma(117;0.00434)|Epithelial(96;0.0555)|all cancers(119;0.141)			CTACCAGGTGCCGAAATTCAG	0.458																																						ENST00000361099.3																			0				autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						c.(1213-1215)cgG>cgA		signal transducer and activator of transcription 1, 91kDa	Fludarabine(DB01073)						239	248	245					2																	191851586		2203	4300	6503	SO:0001819	synonymous_variant	6772				activation of caspase activity|I-kappaB kinase/NF-kappaB cascade|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway|tyrosine phosphorylation of STAT protein	cytosol|nucleolus|nucleoplasm	calcium ion binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr2:191851586C>T		CCDS2309.1, CCDS42793.1	2q32.2-q32.3	2014-09-17	2002-08-29		ENSG00000115415	ENSG00000115415		"SH2 domain containing"	11362	protein-coding gene	gene with protein product	"transcription factor ISGF-3 components p91/p84"	600555	"signal transducer and activator of transcription 1, 91kD"			7885841	Standard	NM_139266		Approved	STAT91, ISGF-3	uc002usj.2	P42224	OTTHUMG00000132699	ENST00000361099.3:c.1215G>A	2.37:g.191851586C>T						STAT1_ENST00000540176.1_3'UTR|STAT1_ENST00000409465.1_Silent_p.R405R|STAT1_ENST00000392322.3_Silent_p.R405R|STAT1_ENST00000392323.2_Silent_p.R407R	p.R405R	NM_007315.3	NP_009330.1	P42224	STAT1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00434)|Epithelial(96;0.0555)|all cancers(119;0.141)		14	1602	-			405					A8K989|B2RCA0|D2KFR8|D3DPI7|Q53S88|Q53XW4|Q68D00|Q9UDL5	Silent	SNP	ENST00000361099.3	37	c.1215G>A	CCDS2309.1																																																																																				0.458	STAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255997.3	NM_007315		4	214	0	0	0	1	0	4	214					T	191851586	C	T	191851586	2	4	253	1	0	0	0	0	0	0	0	1	15263	726	26	3		3	STAT1	2	191851586	Silent	SNP	C	TCGA-HC-A8CY-01A-11D-A364-08		191851586	51347787	3	11842											
MAP2	4133	broad.mit.edu	37	chr2	210560413	210560413	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtcaaattgtcagtggaaatAccttgcccacctgctgtttc	9	13	8	11	0	2	0	2	0	0	0	3	1	2	1	3	1	3	2	3	1	3	4	rs201672675		TCGA-HC-A8CY-01A-11D-A364-08	TCGA-HC-A8CY-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ff7f1d-b776-4a67-9927-4071226f30f4	2cacf700-84ab-4917-8c2e-0f38205063dd	g.chr2:210560413A>G	ENST00000360351.4	+	7	4025	c.3519A>G	c.(3517-3519)atA>atG	p.I1173M	MAP2_ENST00000199940.6_Intron|MAP2_ENST00000361559.4_Intron|MAP2_ENST00000392194.1_Intron|MAP2_ENST00000447185.1_Missense_Mutation_p.I1169M	NM_002374.3	NP_002365.3	P11137	MTAP2_HUMAN	microtubule-associated protein 2	1173					axonogenesis (GO:0007409)|cellular response to organic substance (GO:0071310)|central nervous system neuron development (GO:0021954)|dendrite morphogenesis (GO:0048813)|microtubule bundle formation (GO:0001578)|neuron projection development (GO:0031175)	cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|neuronal cell body (GO:0043025)|nuclear periphery (GO:0034399)	dystroglycan binding (GO:0002162)|structural molecule activity (GO:0005198)			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Docetaxel(DB01248)|Estramustine(DB01196)|Paclitaxel(DB01229)	CAGTGGAAATACCTTGCCCAC	0.443																																					Pancreas(27;423 979 28787 29963)	ENST00000360351.4																			0				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124						c.(3517-3519)atA>atG		microtubule-associated protein 2	Estramustine(DB01196)						69	64	66					2																	210560413		2203	4300	6503	SO:0001583	missense	4133				central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	beta-dystroglycan binding|calmodulin binding|structural molecule activity	g.chr2:210560413A>G		CCDS2384.1, CCDS2385.1, CCDS33369.1	2q34-q35	2008-05-27			ENSG00000078018	ENSG00000078018		"A-kinase anchor proteins"	6839	protein-coding gene	gene with protein product		157130				3103857, 7479905	Standard	XM_005246554		Approved	MAP2A, MAP2B, MAP2C	uc002vde.1	P11137	OTTHUMG00000132962	ENST00000360351.4:c.3519A>G	2.37:g.210560413A>G	ENSP00000353508:p.Ile1173Met					MAP2_ENST00000392194.1_Intron|MAP2_ENST00000447185.1_Missense_Mutation_p.I1169M|MAP2_ENST00000199940.6_Intron|MAP2_ENST00000361559.4_Intron	p.I1173M	NM_002374.3	NP_002365.3	P11137	MAP2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	7	4025	+		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)	1173					Q17S04|Q8IUX2|Q99975|Q99976	Missense_Mutation	SNP	ENST00000360351.4	37	c.3519A>G	CCDS2384.1	.	.	.	.	.	.	.	.	.	.	A	8.616	0.890356	0.17613	.	.	ENSG00000078018	ENST00000360351;ENST00000447185	T;T	0.25414	1.8;1.8	5.83	-2.35	0.06684	MAP2/Tau projection (1);	0.410508	0.23026	N	0.052781	T	0.20007	0.0481	L	0.36672	1.1	0.09310	N	1	B;B	0.33826	0.374;0.427	B;P	0.45998	0.366;0.5	T	0.20273	-1.0280	10	0.45353	T	0.12	-7.0052	0.6765	0.00867	0.3451:0.2583:0.1101:0.2865	.	1169;1173	P11137-3;P11137	.;MAP2_HUMAN	M	1173;1169	ENSP00000353508:I1173M;ENSP00000392164:I1169M	ENSP00000353508:I1173M	I	+	3	3	MAP2	210268658	0.000000	0.05858	0.982000	0.44146	0.878000	0.50629	-0.440000	0.06888	-0.136000	0.11475	0.528000	0.53228	ATA		0.443	MAP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256521.2	NM_001039538		21	33	0	0	0	1	0	21	33					G	210560413	A	G	210560413	3	3	253	1	0	0	0	0	1	0	0	0	9235	381	14	4	3533	4	MAP2	2	210560413	Missense_Mutation	SNP	A	TCGA-HC-A8CY-01A-11D-A364-08	18708827	210560413	32638960	4	11843											
GRM7	2917	broad.mit.edu	37	chr3	7340480	7340480	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gacacccccaactccagggcCgtcgtgatttttgccaacga	9	8	9	15	3	0	1	0	1	0	0	2	3	1	1	5	1	3	0	5	1	2	2			TCGA-HC-A8CY-01A-11D-A364-08	TCGA-HC-A8CY-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ff7f1d-b776-4a67-9927-4071226f30f4	2cacf700-84ab-4917-8c2e-0f38205063dd	g.chr3:7340480C>T	ENST00000357716.4	+	3	1120	c.846C>T	c.(844-846)gcC>gcT	p.A282A	GRM7_ENST00000402647.2_Silent_p.A282A|GRM7_ENST00000403881.1_Silent_p.A282A|GRM7_ENST00000389336.4_Silent_p.A282A|GRM7_ENST00000486284.1_Silent_p.A282A	NM_000844.3	NP_000835.1	Q14831	GRM7_HUMAN	glutamate receptor, metabotropic 7	282					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|adult behavior (GO:0030534)|conditioned taste aversion (GO:0001661)|multicellular organismal response to stress (GO:0033555)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of cAMP biosynthetic process (GO:0030818)|negative regulation of glutamate secretion (GO:0014050)|regulation of cyclase activity (GO:0031279)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of smell (GO:0007608)|sensory perception of sound (GO:0007605)|short-term memory (GO:0007614)|synaptic transmission (GO:0007268)|transmission of nerve impulse (GO:0019226)	asymmetric synapse (GO:0032279)|axon (GO:0030424)|cell cortex (GO:0005938)|dendrite (GO:0030425)|dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)|receptor complex (GO:0043235)	adenylate cyclase inhibitor activity (GO:0010855)|calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|glutamate binding (GO:0016595)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)|PDZ domain binding (GO:0030165)|serine binding (GO:0070905)|voltage-gated calcium channel activity (GO:0005245)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76						ACTCCAGGGCCGTCGTGATTT	0.448																																						ENST00000486284.1																			0				breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76						c.(844-846)gcC>gcT		glutamate receptor, metabotropic 7	L-Glutamic Acid(DB00142)						72	73	73					3																	7340480		2203	4299	6502	SO:0001819	synonymous_variant	2917				negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission	asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone	adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding	g.chr3:7340480C>T	U92458	CCDS43042.1	3p26-p25	2014-06-12			ENSG00000196277	ENSG00000196277		"GPCR / Class C : Glutamate receptors, metabotropic", "Glutamate receptors"	4599	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 87"	604101				8288585, 8840028	Standard	NM_000844		Approved	GLUR7, GPRC1G, mGlu7, MGLUR7, PPP1R87	uc003bql.2	Q14831	OTTHUMG00000125549	ENST00000357716.4:c.846C>T	3.37:g.7340480C>T						GRM7_ENST00000357716.4_Silent_p.A282A|GRM7_ENST00000402647.2_Silent_p.A282A|GRM7_ENST00000389336.4_Silent_p.A282A|GRM7_ENST00000403881.1_Silent_p.A282A	p.A282A	NM_181874.2	NP_870989.1	Q14831	GRM7_HUMAN			3	1120	+			282					Q8NFS2|Q8NFS3|Q8NFS4	Silent	SNP	ENST00000357716.4	37	c.846C>T	CCDS43042.1																																																																																				0.448	GRM7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000246895.3	NM_000844		22	27	0	0	0	1	0	22	27					T	7340480	C	T	7340480	2	4	253	1	0	0	0	0	0	0	0	1	6802	639	23	2		2	GRM7	3	7340480	Silent	SNP	C	TCGA-HC-A8CY-01A-11D-A364-08		7340480	190681950	5	11844											
LMCD1	29995	broad.mit.edu	37	chr3	8579031	8579031	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tccggatttacaagaggaacCggatgatcatgaccaaccct	13	8	9	11	2	1	3	1	2	0	1	2	6	2	6	4	3	3	0	4	3	4	2			TCGA-HC-A8CY-01A-11D-A364-08	TCGA-HC-A8CY-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ff7f1d-b776-4a67-9927-4071226f30f4	2cacf700-84ab-4917-8c2e-0f38205063dd	g.chr3:8579031C>T	ENST00000157600.3	+	3	524	c.292C>T	c.(292-294)Cgg>Tgg	p.R98W	LMCD1_ENST00000535732.1_Missense_Mutation_p.R98W|LMCD1_ENST00000397386.3_Intron|LMCD1_ENST00000454244.1_Missense_Mutation_p.R25W|LMCD1-AS1_ENST00000439407.1_RNA	NM_014583.2	NP_055398.1	Q9NZU5	LMCD1_HUMAN	LIM and cysteine-rich domains 1	98					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of calcineurin-NFAT signaling cascade (GO:0070886)|regulation of cardiac muscle hypertrophy (GO:0010611)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleus (GO:0005634)	transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			breast(2)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)	16				OV - Ovarian serous cystadenocarcinoma(96;0.124)		CAAGAGGAACCGGATGATCAT	0.537																																						ENST00000157600.3																			0				breast(2)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)	16						c.(292-294)Cgg>Tgg		LIM and cysteine-rich domains 1							144	150	148					3																	8579031		2203	4300	6503	SO:0001583	missense	29995				positive regulation of calcineurin-NFAT signaling pathway|regulation of cardiac muscle hypertrophy|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus	transcription corepressor activity|zinc ion binding	g.chr3:8579031C>T	AF169284	CCDS33688.1, CCDS63533.1, CCDS63534.1	3p26-p24	2008-07-18			ENSG00000071282	ENSG00000071282			6633	protein-coding gene	gene with protein product	"dyxin"	604859				10662546	Standard	NM_001278233		Approved		uc003bqq.4	Q9NZU5	OTTHUMG00000154971	ENST00000157600.3:c.292C>T	3.37:g.8579031C>T	ENSP00000157600:p.Arg98Trp					LMCD1_ENST00000397386.3_Intron|LMCD1_ENST00000454244.1_Missense_Mutation_p.R25W|LMCD1-AS1_ENST00000439407.1_RNA|LMCD1_ENST00000535732.1_Missense_Mutation_p.R98W	p.R98W	NM_014583.2	NP_055398.1	Q9NZU5	LMCD1_HUMAN		OV - Ovarian serous cystadenocarcinoma(96;0.124)	3	524	+			98					B4DG80	Missense_Mutation	SNP	ENST00000157600.3	37	c.292C>T	CCDS33688.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.319912	0.81469	.	.	ENSG00000071282	ENST00000157600;ENST00000415597;ENST00000535732;ENST00000454244;ENST00000426878	D;D;D;D;D	0.86865	-2.18;-2.18;-2.18;-2.18;-2.18	5.75	3.93	0.45458	PET domain (1);	0.000000	0.64402	D	0.000003	D	0.91348	0.7271	M	0.68317	2.08	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.996	D	0.90431	0.4424	10	0.66056	D	0.02	-26.7112	9.5353	0.39218	0.1429:0.783:0.0:0.0741	.	98;98	F5GX84;Q9NZU5	.;LMCD1_HUMAN	W	98;104;98;25;55	ENSP00000157600:R98W;ENSP00000400555:R104W;ENSP00000441100:R98W;ENSP00000396515:R25W;ENSP00000411222:R55W	ENSP00000157600:R98W	R	+	1	2	LMCD1	8554031	1.000000	0.71417	1.000000	0.80357	0.926000	0.56050	5.624000	0.67764	0.753000	0.32945	0.655000	0.94253	CGG		0.537	LMCD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337854.1	NM_014583		9	156	0	0	0	1	0	9	156					T	8579031	C	T	8579031	3	4	253	1	0	0	0	0	1	0	0	0	8844	643	23	2	302	2	LMCD1	3	8579031	Missense_Mutation	SNP	C	TCGA-HC-A8CY-01A-11D-A364-08	1238551	8579031	189443399	6	11845											
GRIP2	80852	broad.mit.edu	37	chr3	14545076	14545076	+	RNA	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cagggcaggcagccatacctCcagttccctcagcagctctg	8	7	10	16	0	2	0	1	0	1	0	4	0	4	0	4	2	4	5	4	2	1	2			TCGA-HC-A8CY-01A-11D-A364-08	TCGA-HC-A8CY-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ff7f1d-b776-4a67-9927-4071226f30f4	2cacf700-84ab-4917-8c2e-0f38205063dd	g.chr3:14545076C>A	ENST00000273083.3	-	0	2741							Q9C0E4	GRIP2_HUMAN	glutamate receptor interacting protein 2						synaptic transmission (GO:0007268)	cytosol (GO:0005829)|plasma membrane (GO:0005886)				endometrium(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	25						AGCCATACCTCCAGTTCCCTC	0.617																																						ENST00000273083.3																			0				endometrium(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	25								glutamate receptor interacting protein 2							28	32	31					3																	14545076		2107	4211	6318			80852				synaptic transmission	cytosol|plasma membrane	protein binding	g.chr3:14545076C>A	AB051506		3p24-p23	2012-02-08			ENSG00000144596	ENSG00000144596			23841	protein-coding gene	gene with protein product							Standard	NM_001080423		Approved	KIAA1719	uc021wtn.1	Q9C0E4	OTTHUMG00000155544		3.37:g.14545076C>A										Q9C0E4	GRIP2_HUMAN			0	2741	-								Q8TEH9|Q9H7H3	RNA	SNP	ENST00000273083.3	37																																																																																						0.617	GRIP2-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000340582.2	NM_001080423		5	12	1	0	0.014758	1	0.014758	5	12					A	14545076	C	A	14545076	1	1	253	0	1	0	0	0	0	0	0	0	6788	864	30	5		5	GRIP2	3	14545076	RNA	SNP	C	TCGA-HC-A8CY-01A-11D-A364-08	5966045	14545076	183477354	7	11846											
ATP2C1	27032	broad.mit.edu	37	chr3	130698121	130698121	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttggcttctggtcctgaactGggacagctgacatttcttgg	6	14	12	9	0	2	2	0	2	2	0	3	3	3	3	1	4	2	2	1	4	1	4			TCGA-HC-A8CY-01A-11D-A364-08	TCGA-HC-A8CY-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ff7f1d-b776-4a67-9927-4071226f30f4	2cacf700-84ab-4917-8c2e-0f38205063dd	g.chr3:130698121G>T	ENST00000510168.1	+	19	2149	c.1599G>T	c.(1597-1599)ctG>ctT	p.L533L	ATP2C1_ENST00000513801.1_Silent_p.L517L|ATP2C1_ENST00000393221.4_Silent_p.L567L|ATP2C1_ENST00000504381.1_Silent_p.L478L|ATP2C1_ENST00000428331.2_Silent_p.L533L|ATP2C1_ENST00000504948.1_Silent_p.L517L|ATP2C1_ENST00000507488.2_Silent_p.L517L|ATP2C1_ENST00000505330.1_Silent_p.L517L|ATP2C1_ENST00000328560.8_Silent_p.L533L|ATP2C1_ENST00000422190.2_Silent_p.L533L|ATP2C1_ENST00000533801.2_Silent_p.L528L|ATP2C1_ENST00000508532.1_Silent_p.L533L|ATP2C1_ENST00000359644.3_Silent_p.L533L			P98194	AT2C1_HUMAN	ATPase, Ca++ transporting, type 2C, member 1	533					actin cytoskeleton reorganization (GO:0031532)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|calcium-dependent cell-cell adhesion (GO:0016339)|cellular calcium ion homeostasis (GO:0006874)|cellular manganese ion homeostasis (GO:0030026)|epidermis development (GO:0008544)|Golgi calcium ion homeostasis (GO:0032468)|Golgi calcium ion transport (GO:0032472)|ion transmembrane transport (GO:0034220)|manganese ion transmembrane transport (GO:0071421)|manganese ion transport (GO:0006828)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)|transmembrane transport (GO:0055085)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calcium-transporting ATPase activity (GO:0005388)|manganese ion binding (GO:0030145)|manganese-transporting ATPase activity (GO:0015410)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)			breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(15)|prostate(2)|skin(2)|urinary_tract(1)	39					Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	GTCCTGAACTGGGACAGCTGA	0.383									Hailey-Hailey disease																												Esophageal Squamous(99;456 1443 27647 34099 42636)	ENST00000510168.1																			0				breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(15)|prostate(2)|skin(2)|urinary_tract(1)	39						c.(1597-1599)ctG>ctT		ATPase, Ca++ transporting, type 2C, member 1	Arsenic trioxide(DB01169)|Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Miconazole(DB01110)|Sevoflurane(DB01236)						133	129	130					3																	130698121		2203	4300	6503	SO:0001819	synonymous_variant	27032	Hailey-Hailey disease	Familial Cancer Database	HHD, Familial Benign Chronic Pemphigus, Benign Familial Pemphigus	actin cytoskeleton reorganization|ATP biosynthetic process|calcium-dependent cell-cell adhesion|cellular calcium ion homeostasis|cellular manganese ion homeostasis|epidermis development|Golgi calcium ion homeostasis|Golgi calcium ion transport|positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi apparatus|Golgi membrane|integral to membrane|trans-Golgi network	ATP binding|calcium ion binding|calcium-transporting ATPase activity|manganese ion binding|manganese-transporting ATPase activity|metal ion binding|signal transducer activity	g.chr3:130698121G>T	AF181120	CCDS33856.1, CCDS46912.1, CCDS46913.1, CCDS46914.1, CCDS56278.1, CCDS56279.1, CCDS56280.1, CCDS56281.1, CCDS75006.1	3q21.3	2012-10-22			ENSG00000017260	ENSG00000017260	3.6.3.8	"ATPases / P-type"	13211	protein-coding gene	gene with protein product	"secretory pathway Ca2+/Mn2+ ATPase 1", "calcium-transporting ATPase type 2C member 1"	604384	"benign chronic pemphigus (Hailey-Hailey disease)"	BCPM		10615129, 10767338	Standard	NM_001001485		Approved	KIAA1347, ATP2C1A, PMR1, SPCA1	uc011bli.2	P98194	OTTHUMG00000136802	ENST00000510168.1:c.1599G>T	3.37:g.130698121G>T						ATP2C1_ENST00000507488.2_Silent_p.L517L|ATP2C1_ENST00000328560.8_Silent_p.L533L|ATP2C1_ENST00000422190.2_Silent_p.L533L|ATP2C1_ENST00000428331.2_Silent_p.L533L|ATP2C1_ENST00000508532.1_Silent_p.L533L|ATP2C1_ENST00000393221.4_Silent_p.L567L|ATP2C1_ENST00000359644.3_Silent_p.L533L|ATP2C1_ENST00000513801.1_Silent_p.L517L|ATP2C1_ENST00000505330.1_Silent_p.L517L|ATP2C1_ENST00000504381.1_Silent_p.L478L|ATP2C1_ENST00000504948.1_Silent_p.L517L|ATP2C1_ENST00000533801.2_Silent_p.L528L	p.L533L			P98194	AT2C1_HUMAN			19	2149	+			533					B2RAT7|B4DSW3|B7Z3X9|G3XAH8|G8JLN9|O76005|Q86V72|Q86V73|Q8N6V1|Q8NCJ7	Silent	SNP	ENST00000510168.1	37	c.1599G>T	CCDS46914.1	.	.	.	.	.	.	.	.	.	.	G	9.135	1.012284	0.19277	.	.	ENSG00000017260	ENST00000504612	.	.	.	5.68	3.76	0.43208	.	.	.	.	.	T	0.56717	0.2004	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.53422	-0.8441	4	.	.	.	.	7.7177	0.28715	0.0778:0.0:0.5184:0.4038	.	.	.	.	L	487	.	.	W	+	2	0	ATP2C1	132180811	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.648000	0.46647	1.366000	0.46076	0.655000	0.94253	TGG		0.383	ATP2C1-008	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356648.2	NM_001001486		17	111	1	0	1.02788e-11	1	1.08198e-11	17	111					T	130698121	G	T	130698121	2	4	253	1	0	0	0	0	0	0	0	1	1143	1335	47	5		5	ATP2C1	3	130698121	Silent	SNP	G	TCGA-HC-A8CY-01A-11D-A364-08	116153045	130698121	67324309	8	11847											
ZBBX	79740	broad.mit.edu	37	chr3	167045902	167045902	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cttttcatcgttgtaatttcTacctaattaaaaggatacat	13	17	4	7	1	2	0	1	0	1	0	3	1	2	1	1	1	2	2	1	1	6	9			TCGA-HC-A8CY-01A-11D-A364-08	TCGA-HC-A8CY-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ff7f1d-b776-4a67-9927-4071226f30f4	2cacf700-84ab-4917-8c2e-0f38205063dd	g.chr3:167045902T>C	ENST00000392766.2	-	11	1030	c.690A>G	c.(688-690)gtA>gtG	p.V230V	ZBBX_ENST00000455345.2_Silent_p.V230V|ZBBX_ENST00000307529.5_Silent_p.V230V|ZBBX_ENST00000469220.1_Intron|ZBBX_ENST00000392767.2_Silent_p.V230V|ZBBX_ENST00000392764.1_Silent_p.V201V	NM_001199201.1|NM_024687.3	NP_001186130.1|NP_078963.2	A8MT70	ZBBX_HUMAN	zinc finger, B-box domain containing	230						intracellular (GO:0005622)	zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(9)|liver(1)|lung(38)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	70						TTGTAATTTCTACCTAATTAA	0.323																																						ENST00000392766.2																			0				NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(9)|liver(1)|lung(38)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	70						c.(688-690)gtA>gtG		zinc finger, B-box domain containing							153	137	142					3																	167045902		1838	4087	5925	SO:0001819	synonymous_variant	79740					intracellular	zinc ion binding	g.chr3:167045902T>C	AK026702	CCDS3199.2, CCDS56295.1, CCDS56296.1	3q26.1	2010-03-23			ENSG00000169064	ENSG00000169064			26245	protein-coding gene	gene with protein product						12477932	Standard	NM_024687		Approved	FLJ23049	uc011bpc.2	A8MT70	OTTHUMG00000133560	ENST00000392766.2:c.690A>G	3.37:g.167045902T>C						ZBBX_ENST00000469220.1_Intron|ZBBX_ENST00000307529.5_Silent_p.V230V|ZBBX_ENST00000392767.2_Silent_p.V230V|ZBBX_ENST00000392764.1_Silent_p.V201V|ZBBX_ENST00000455345.2_Silent_p.V230V	p.V230V	NM_001199201.1|NM_024687.3	NP_001186130.1|NP_078963.2	A8MT70	ZBBX_HUMAN			11	1030	-			230					A8MV69|B3KSC1|B5MDJ6|F2Z370|Q9H5T8	Silent	SNP	ENST00000392766.2	37	c.690A>G	CCDS3199.2																																																																																				0.323	ZBBX-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000257657.3	NM_024687		34	86	0	0	0	1	0	34	86					C	167045902	T	C	167045902	2	2	253	1	0	0	0	0	0	0	0	1	17513	1509	53	4		4	ZBBX	3	167045902	Silent	SNP	T	TCGA-HC-A8CY-01A-11D-A364-08	36347781	167045902	30976528	9	11848											
SORCS2	57537	broad.mit.edu	37	chr4	7741958	7741958	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggcgtggtcctgagcatcaaCtcccgagagatgcacagcta	10	7	12	12	2	1	2	1	1	0	1	3	4	3	2	2	2	4	3	2	2	2	1			TCGA-HC-A8CY-01A-11D-A364-08	TCGA-HC-A8CY-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ff7f1d-b776-4a67-9927-4071226f30f4	2cacf700-84ab-4917-8c2e-0f38205063dd	g.chr4:7741958C>T	ENST00000507866.2	+	27	3556	c.3447C>T	c.(3445-3447)aaC>aaT	p.N1149N	SORCS2_ENST00000329016.9_Silent_p.N992N	NM_020777.2	NP_065828.2	Q96PQ0	SORC2_HUMAN	sortilin-related VPS10 domain containing receptor 2	1149					neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	neuropeptide receptor activity (GO:0008188)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(8)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	42						TGAGCATCAACTCCCGAGAGA	0.612																																						ENST00000507866.2																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(8)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	42						c.(3445-3447)aaC>aaT		sortilin-related VPS10 domain containing receptor 2							47	52	50					4																	7741958		2073	4195	6268	SO:0001819	synonymous_variant	57537					integral to membrane	neuropeptide receptor activity	g.chr4:7741958C>T	AB037750	CCDS47008.1	4p16.1	2008-02-05			ENSG00000184985	ENSG00000184985			16698	protein-coding gene	gene with protein product		606284				11499680	Standard	NM_020777		Approved	KIAA1329	uc003gkb.4	Q96PQ0	OTTHUMG00000159981	ENST00000507866.2:c.3447C>T	4.37:g.7741958C>T						SORCS2_ENST00000329016.9_Silent_p.N992N	p.N1149N	NM_020777.2	NP_065828.2	Q96PQ0	SORC2_HUMAN			27	3556	+			1149					Q9P2L7	Silent	SNP	ENST00000507866.2	37	c.3447C>T	CCDS47008.1																																																																																				0.612	SORCS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358685.4	NM_020777		7	9	0	0	0	1	0	7	9					T	7741958	C	T	7741958	2	4	253	1	0	0	0	0	0	0	0	1	14931	564	20	3		3	SORCS2	4	7741958	Silent	SNP	C	TCGA-HC-A8CY-01A-11D-A364-08		7741958	183412318	10	11849											
TKTL2	84076	broad.mit.edu	37	chr4	164394537	164394537	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgttgccacgtcaacaaacGgcaatcggggggtagggtgt	9	8	15	9	3	1	0	1	0	0	0	2	0	1	0	1	5	3	3	1	5	4	2			TCGA-HC-A8CY-01A-11D-A364-08	TCGA-HC-A8CY-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ff7f1d-b776-4a67-9927-4071226f30f4	2cacf700-84ab-4917-8c2e-0f38205063dd	g.chr4:164394537G>A	ENST00000280605.3	-	1	510	c.350C>T	c.(349-351)cCg>cTg	p.P117L		NM_032136.4	NP_115512.3	Q9H0I9	TKTL2_HUMAN	transketolase-like 2	117						cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|transketolase activity (GO:0004802)			breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(42)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	70	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				GTCAACAAACGGCAATCGGGG	0.537																																						ENST00000280605.3																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(42)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	70						c.(349-351)cCg>cTg		transketolase-like 2							101	88	92					4																	164394537		2203	4300	6503	SO:0001583	missense	84076					cytoplasm	metal ion binding|transketolase activity	g.chr4:164394537G>A	BC028707	CCDS3805.1	4q32.2	2009-10-06			ENSG00000151005	ENSG00000151005			25313	protein-coding gene	gene with protein product	"similar to transketolase"					11230166	Standard	NM_032136		Approved	FLJ32975, DKFZP434L1717	uc003iqp.4	Q9H0I9	OTTHUMG00000161527	ENST00000280605.3:c.350C>T	4.37:g.164394537G>A	ENSP00000280605:p.Pro117Leu						p.P117L	NM_032136.4	NP_115512.3	Q9H0I9	TKTL2_HUMAN			1	510	-	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)	117					A4FVB4|Q8NCT0|Q96M82	Missense_Mutation	SNP	ENST00000280605.3	37	c.350C>T	CCDS3805.1	.	.	.	.	.	.	.	.	.	.	G	2.155	-0.393490	0.04899	.	.	ENSG00000151005	ENST00000280605	T	0.27557	1.66	3.75	2.01	0.26516	Transketolase, N-terminal (1);	0.795246	0.10911	N	0.620603	T	0.31857	0.0810	M	0.79011	2.435	0.09310	N	1	B	0.32425	0.371	B	0.33568	0.166	T	0.41752	-0.9491	10	0.66056	D	0.02	0.0087	2.5419	0.04728	0.1056:0.1883:0.5122:0.1939	.	117	Q9H0I9	TKTL2_HUMAN	L	117	ENSP00000280605:P117L	ENSP00000280605:P117L	P	-	2	0	TKTL2	164613987	0.484000	0.25964	0.001000	0.08648	0.013000	0.08279	3.206000	0.51098	0.556000	0.29098	-0.304000	0.09214	CCG		0.537	TKTL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365207.1	NM_032136		20	43	0	0	0	1	0	20	43					A	164394537	G	A	164394537	3	1	253	1	0	0	0	0	1	0	0	0	15933	1116	39	2	1534	2	TKTL2	4	164394537	Missense_Mutation	SNP	G	TCGA-HC-A8CY-01A-11D-A364-08	156652579	164394537	26759739	11	11850											
PRDM9	56979	broad.mit.edu	37	chr5	23524526	23524526	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gatcttctatagaacctgccGagtcattaggccaggctgtg	9	11	11	10	1	3	1	1	0	2	1	3	3	3	1	3	2	2	1	3	2	4	4	rs200386479		TCGA-HC-A8CY-01A-11D-A364-08	TCGA-HC-A8CY-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ff7f1d-b776-4a67-9927-4071226f30f4	2cacf700-84ab-4917-8c2e-0f38205063dd	g.chr5:23524526G>A	ENST00000296682.3	+	10	1216	c.1034G>A	c.(1033-1035)cGa>cAa	p.R345Q		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	345	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				meiotic gene conversion (GO:0006311)|positive regulation of meiosis I (GO:0060903)|positive regulation of reciprocal meiotic recombination (GO:0010845)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)	histone methyltransferase activity (H3-K4 specific) (GO:0042800)|metal ion binding (GO:0046872)|recombination hotspot binding (GO:0010844)|sequence-specific DNA binding (GO:0043565)	p.R345L(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						AGAACCTGCCGAGTCATTAGG	0.552										HNSCC(3;0.000094)			G|||	1	0.000199681	8e-04	0	5008	,	,		17141	0		0	False		,,,				2504	0					ENST00000296682.3																			1	Substitution - Missense(1)	p.R345L(1)	lung(1)	NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						c.(1033-1035)cGa>cAa		PR domain containing 9		G	GLN/ARG	6,3804		0,6,1899	72	75	74		1034	1.1	0.4	5		74	0,8220		0,0,4110	no	missense	PRDM9	NM_020227.2	43	0,6,6009	AA,AG,GG		0.0,0.1575,0.0499	probably-damaging	345/895	23524526	6,12024	1905	4110	6015	SO:0001583	missense	56979				meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding	g.chr5:23524526G>A	AF275816	CCDS43307.1	5p14.2	2014-06-03			ENSG00000164256	ENSG00000164256		"-", "Zinc fingers, C2H2-type"	13994	protein-coding gene	gene with protein product	"PR-domain containing protein 9"	609760	"minisatellite binding protein 3, 115kDa", "minisatellite binding protein 3 (115kD)"	MSBP3		10668202, 2062643, 24634223	Standard	NM_020227		Approved	PFM6, ZNF899	uc003jgo.3	Q9NQV7	OTTHUMG00000161918	ENST00000296682.3:c.1034G>A	5.37:g.23524526G>A	ENSP00000296682:p.Arg345Gln	HNSCC(3;0.000094)					p.R345Q	NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN			10	1216	+			345			SET.		B4DX22|Q27Q50	Missense_Mutation	SNP	ENST00000296682.3	37	c.1034G>A	CCDS43307.1	.	.	.	.	.	.	.	.	.	.	G	12.61	1.990927	0.35131	0.001575	0.0	ENSG00000164256	ENST00000296682;ENST00000253473	D	0.91011	-2.77	4.23	1.13	0.20643	SET domain (2);	.	.	.	.	D	0.83695	0.5310	M	0.70903	2.155	0.43385	D	0.995498	P	0.48911	0.917	B	0.29663	0.105	T	0.77895	-0.2417	9	0.38643	T	0.18	-0.3004	6.8415	0.23965	0.3756:0.0:0.6244:0.0	.	345	Q9NQV7	PRDM9_HUMAN	Q	345;139	ENSP00000296682:R345Q	ENSP00000253473:R139Q	R	+	2	0	PRDM9	23560283	0.967000	0.33354	0.405000	0.26409	0.812000	0.45895	3.154000	0.50693	0.297000	0.22615	-0.493000	0.04662	CGA		0.552	PRDM9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366375.1	NM_020227		15	51	0	0	0	1	0	15	51					A	23524526	G	A	23524526	3	1	253	1	0	0	0	0	1	0	0	0	12463	1058	37	2	1068	2	PRDM9	5	23524526	Missense_Mutation	SNP	G	TCGA-HC-A8CY-01A-11D-A364-08		23524526	157390734	12	11851											
GZMK	3003	broad.mit.edu	37	chr5	54327292	54327292	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	atgcaaggttactggctgggGagccaccgatccagattcat	10	9	12	10	1	1	1	1	0	0	1	2	3	2	2	3	4	3	3	3	4	2	2			TCGA-HC-A8CY-01A-11D-A364-08	TCGA-HC-A8CY-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ff7f1d-b776-4a67-9927-4071226f30f4	2cacf700-84ab-4917-8c2e-0f38205063dd	g.chr5:54327292G>A	ENST00000231009.2	+	4	534	c.464G>A	c.(463-465)gGa>gAa	p.G155E	CTD-2313F11.1_ENST00000595218.1_RNA|CTD-2313F11.1_ENST00000609699.1_RNA|CTD-2313F11.1_ENST00000596137.1_RNA|CTD-2313F11.1_ENST00000609792.1_RNA	NM_002104.2	NP_002095.1	P49863	GRAK_HUMAN	granzyme K (granzyme 3; tryptase II)	155	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4)	15		Lung NSC(810;4.08e-05)|Breast(144;0.0433)|Prostate(74;0.183)				ACTGGCTGGGGAGCCACCGAT	0.443																																						ENST00000231009.2																			0				autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4)	15						c.(463-465)gGa>gAa		granzyme K (granzyme 3; tryptase II)							86	89	88					5																	54327292		2203	4300	6503	SO:0001583	missense	3003				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr5:54327292G>A	BC035802	CCDS3964.1	5q11.2	2008-05-15	2005-08-17		ENSG00000113088	ENSG00000113088			4711	protein-coding gene	gene with protein product		600784	"granzyme K (serine protease, granzyme 3; tryptase II)"			7758581	Standard	NM_002104		Approved	TRYP2, PRSS	uc003jpl.1	P49863	OTTHUMG00000097009	ENST00000231009.2:c.464G>A	5.37:g.54327292G>A	ENSP00000231009:p.Gly155Glu					CTD-2313F11.1_ENST00000595218.1_RNA|CTD-2313F11.1_ENST00000596137.1_RNA	p.G155E	NM_002104.2	NP_002095.1	P49863	GRAK_HUMAN			4	534	+		Lung NSC(810;4.08e-05)|Breast(144;0.0433)|Prostate(74;0.183)	155			Peptidase S1.		B2R563	Missense_Mutation	SNP	ENST00000231009.2	37	c.464G>A	CCDS3964.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.083239	0.76642	.	.	ENSG00000113088	ENST00000231009	D	0.93547	-3.24	5.16	4.27	0.50696	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.064055	0.64402	D	0.000007	D	0.98160	0.9392	H	0.99600	4.65	0.44309	D	0.997181	D	0.89917	1.0	D	0.97110	1.0	D	0.98147	1.0439	10	0.87932	D	0	.	13.0868	0.59146	0.0807:0.0:0.9193:0.0	.	155	P49863	GRAK_HUMAN	E	155	ENSP00000231009:G155E	ENSP00000231009:G155E	G	+	2	0	GZMK	54363049	1.000000	0.71417	0.977000	0.42913	0.907000	0.53573	4.376000	0.59556	2.689000	0.91719	0.655000	0.94253	GGA		0.443	GZMK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214098.1	NM_002104		22	49	0	0	0	1	0	22	49					A	54327292	G	A	54327292	3	1	253	1	0	0	0	0	1	0	0	0	6918	1174	41	3	478	3	GZMK	5	54327292	Missense_Mutation	SNP	G	TCGA-HC-A8CY-01A-11D-A364-08	30802766	54327292	126587968	13	11852											
FTMT	94033	broad.mit.edu	37	chr5	121187964	121187964	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tccatggcctattacttctcCcgggatgacgtggccttgaa	7	12	10	12	2	1	2	0	2	1	0	3	3	2	3	4	3	1	0	4	3	3	4			TCGA-HC-A8CY-01A-11D-A364-08	TCGA-HC-A8CY-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ff7f1d-b776-4a67-9927-4071226f30f4	2cacf700-84ab-4917-8c2e-0f38205063dd	g.chr5:121187964C>T	ENST00000321339.1	+	1	315	c.306C>T	c.(304-306)tcC>tcT	p.S102S		NM_177478.1	NP_803431.1	Q8N4E7	FTMT_HUMAN	ferritin mitochondrial	102	Ferritin-like diiron. {ECO:0000255|PROSITE-ProRule:PRU00085}.				cellular iron ion homeostasis (GO:0006879)|iron ion transport (GO:0006826)|positive regulation of cell proliferation (GO:0008284)|positive regulation of lyase activity (GO:0051349)|positive regulation of oxidoreductase activity (GO:0051353)|positive regulation of transferase activity (GO:0051347)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	ferric iron binding (GO:0008199)|ferroxidase activity (GO:0004322)			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	33		all_cancers(142;0.0124)|Prostate(80;0.0322)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	Epithelial(69;0.000171)|OV - Ovarian serous cystadenocarcinoma(64;0.000188)|all cancers(49;0.0027)		ATTACTTCTCCCGGGATGACG	0.577																																						ENST00000321339.1																			0				NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	33						c.(304-306)tcC>tcT		ferritin mitochondrial							84	66	72					5																	121187964		2203	4300	6503	SO:0001819	synonymous_variant	94033				cellular iron ion homeostasis|iron ion transport|positive regulation of cell proliferation|positive regulation of lyase activity|positive regulation of oxidoreductase activity|positive regulation of transferase activity	mitochondrion	ferric iron binding|ferroxidase activity	g.chr5:121187964C>T	BC034419	CCDS4128.1	5q23.1	2008-02-05			ENSG00000181867	ENSG00000181867			17345	protein-coding gene	gene with protein product		608847				11323407	Standard	NM_177478		Approved	MtF	uc003kss.3	Q8N4E7	OTTHUMG00000128912	ENST00000321339.1:c.306C>T	5.37:g.121187964C>T							p.S102S	NM_177478.1	NP_803431.1	Q8N4E7	FTMT_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.206)	Epithelial(69;0.000171)|OV - Ovarian serous cystadenocarcinoma(64;0.000188)|all cancers(49;0.0027)	1	315	+		all_cancers(142;0.0124)|Prostate(80;0.0322)	102			Ferritin-like diiron.			Silent	SNP	ENST00000321339.1	37	c.306C>T	CCDS4128.1																																																																																				0.577	FTMT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250884.1	NM_177478		4	47	0	0	0	1	0	4	47					T	121187964	C	T	121187964	2	4	253	1	0	0	0	0	0	0	0	1	6085	610	22	3		3	FTMT	5	121187964	Silent	SNP	C	TCGA-HC-A8CY-01A-11D-A364-08	66860672	121187964	59727296	14	11853											
TBP	6908	broad.mit.edu	37	chr6	170871085	170871085	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagcagcagcagcagcagcaGcagcagcagcagcagcagca	14	0	13	14	0	0	0	0	0	0	0	0	0	0	0	0	0	13	13	0	0	0	0	rs566225355	byFrequency	TCGA-HC-A8CY-01A-11D-A364-08	TCGA-HC-A8CY-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ff7f1d-b776-4a67-9927-4071226f30f4	2cacf700-84ab-4917-8c2e-0f38205063dd	g.chr6:170871085G>A	ENST00000392092.2	+	3	540	c.261G>A	c.(259-261)caG>caA	p.Q87Q	TBP_ENST00000540980.1_Silent_p.Q67Q|TBP_ENST00000230354.6_Silent_p.Q87Q	NM_003194.4	NP_003185.1	P20226	TBP_HUMAN	TATA box binding protein	87	Poly-Gln.				cell death (GO:0008219)|gene expression (GO:0010467)|positive regulation of transcription, DNA-templated (GO:0045893)|spermatogenesis (GO:0007283)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription from RNA polymerase III promoter (GO:0006383)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	cytoplasm (GO:0005737)|female pronucleus (GO:0001939)|male pronucleus (GO:0001940)|nuclear euchromatin (GO:0005719)|nucleoplasm (GO:0005654)|transcription factor TFIIA complex (GO:0005672)|transcription factor TFIID complex (GO:0005669)	repressing transcription factor binding (GO:0070491)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1)	26		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591)		agcagcagcagcagcagcagc	0.617													G|||	12	0.00239617	0.0015	0.0029	5008	,	,		13588	0.005		0.002	False		,,,				2504	0.001					ENST00000392092.2																			0				breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1)	26						c.(259-261)caG>caA		TATA box binding protein																																				SO:0001819	synonymous_variant	6908				cell death|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription from RNA polymerase III promoter|viral reproduction	transcription factor TFIIA complex|transcription factor TFIID complex	repressing transcription factor binding|transcription regulatory region DNA binding	g.chr6:170871085G>A	M55654	CCDS5315.1, CCDS55077.1	6q27	2014-04-02			ENSG00000112592	ENSG00000112592		"General transcription factors"	11588	protein-coding gene	gene with protein product		600075		GTF2D1, SCA17		2194289, 11448935	Standard	NM_003194		Approved	TFIID	uc003qxu.3	P20226	OTTHUMG00000016084	ENST00000392092.2:c.261G>A	6.37:g.170871085G>A						TBP_ENST00000540980.1_Silent_p.Q67Q|TBP_ENST00000230354.6_Silent_p.Q87Q	p.Q87Q	NM_003194.4	NP_003185.1	P20226	TBP_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591)	3	540	+		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)	87			Poly-Gln.		B4E3B3|F5H869|Q16845|Q6IBM6|Q9UC02	Silent	SNP	ENST00000392092.2	37	c.261G>A	CCDS5315.1																																																																																				0.617	TBP-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043271.2	NM_003194		4	35	0	0	0	1	0	4	35					A	170871085	G	A	170871085	2	1	253	1	0	0	0	0	0	0	0	1	15641	962	34	3		3	TBP	6	170871085	Silent	SNP	G	TCGA-HC-A8CY-01A-11D-A364-08		170871085	243982	15	11854											
AMZ1	155185	broad.mit.edu	37	chr7	2752291	2752291	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agcgggaagtggcagaggagGacctggtgcaggtggacaga	11	4	20	6	1	0	2	0	0	0	2	0	6	0	6	1	7	2	2	1	7	1	0			TCGA-HC-A8CY-01A-11D-A364-08	TCGA-HC-A8CY-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ff7f1d-b776-4a67-9927-4071226f30f4	2cacf700-84ab-4917-8c2e-0f38205063dd	g.chr7:2752291G>T	ENST00000312371.4	+	7	1644	c.1276G>T	c.(1276-1278)Gac>Tac	p.D426Y	AMZ1_ENST00000407112.1_3'UTR|AMZ1_ENST00000489665.1_Intron	NM_133463.1	NP_597720.1	Q400G9	AMZ1_HUMAN	archaelysin family metallopeptidase 1	426							metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(2)|kidney(1)|large_intestine(4)|lung(8)|skin(1)	16		Ovarian(82;0.0779)		OV - Ovarian serous cystadenocarcinoma(56;5.03e-14)		GGCAGAGGAGGACCTGGTGCA	0.697																																						ENST00000312371.4																			0				breast(2)|kidney(1)|large_intestine(4)|lung(8)|skin(1)	16						c.(1276-1278)Gac>Tac		archaelysin family metallopeptidase 1							46	44	45					7																	2752291		2202	4298	6500	SO:0001583	missense	155185						metallopeptidase activity|zinc ion binding	g.chr7:2752291G>T	AB075830	CCDS34589.1, CCDS64582.1	7p22.3	2008-01-17			ENSG00000174945	ENSG00000174945			22231	protein-coding gene	gene with protein product	"archaemetzincin-1"	615168				15972818	Standard	NM_133463		Approved	KIAA1950	uc003smr.1	Q400G9	OTTHUMG00000152111	ENST00000312371.4:c.1276G>T	7.37:g.2752291G>T	ENSP00000308149:p.Asp426Tyr					AMZ1_ENST00000489665.1_Intron|AMZ1_ENST00000407112.1_3'UTR	p.D426Y	NM_133463.1	NP_597720.1	Q400G9	AMZ1_HUMAN		OV - Ovarian serous cystadenocarcinoma(56;5.03e-14)	7	1644	+		Ovarian(82;0.0779)	426					B3KRS0|Q8TF51	Missense_Mutation	SNP	ENST00000312371.4	37	c.1276G>T	CCDS34589.1	.	.	.	.	.	.	.	.	.	.	G	11.18	1.561899	0.27915	.	.	ENSG00000174945	ENST00000312371	T	0.25085	1.82	4.67	4.67	0.58626	.	0.102732	0.42294	D	0.000738	T	0.16085	0.0387	N	0.08118	0	0.80722	D	1	B	0.18166	0.026	B	0.19666	0.026	T	0.07404	-1.0774	10	0.87932	D	0	-26.0979	15.3648	0.74513	0.0:0.0:1.0:0.0	.	426	Q400G9	AMZ1_HUMAN	Y	426	ENSP00000308149:D426Y	ENSP00000308149:D426Y	D	+	1	0	AMZ1	2718817	1.000000	0.71417	1.000000	0.80357	0.064000	0.16182	3.363000	0.52321	2.133000	0.65898	0.462000	0.41574	GAC		0.697	AMZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325244.1	NM_133463		20	6	1	0	5.03518e-11	1	5.20881e-11	20	6					T	2752291	G	T	2752291	3	4	253	1	0	0	0	0	1	0	0	0	596	1174	41	5	1298	5	AMZ1	7	2752291	Missense_Mutation	SNP	G	TCGA-HC-A8CY-01A-11D-A364-08		2752291	156386372	16	11855											
CA9	768	broad.mit.edu	37	chr9	35676348	35676348	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagttgacgaggccttggggCgcccgggaggcctggccgtg	4	6	20	11	4	0	1	0	1	0	0	0	4	0	2	4	6	0	1	4	6	0	2			TCGA-HC-A8CY-01A-11D-A364-08	TCGA-HC-A8CY-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ff7f1d-b776-4a67-9927-4071226f30f4	2cacf700-84ab-4917-8c2e-0f38205063dd	g.chr9:35676348C>T	ENST00000378357.4	+	5	906	c.802C>T	c.(802-804)Cgc>Tgc	p.R268C	CA9_ENST00000493245.1_Intron	NM_001216.2	NP_001207.2	Q16790	CAH9_HUMAN	carbonic anhydrase IX	268	Catalytic.				bicarbonate transport (GO:0015701)|cellular response to hypoxia (GO:0071456)|morphogenesis of an epithelium (GO:0002009)|one-carbon metabolic process (GO:0006730)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|response to drug (GO:0042493)|response to testosterone (GO:0033574)|secretion (GO:0046903)|small molecule metabolic process (GO:0044281)	basolateral plasma membrane (GO:0016323)|cell projection (GO:0042995)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	carbonate dehydratase activity (GO:0004089)|zinc ion binding (GO:0008270)			kidney(1)|large_intestine(3)|lung(5)|ovary(4)|prostate(1)|skin(2)|urinary_tract(1)	17	all_epithelial(49;0.217)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)		Benzthiazide(DB00562)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Zonisamide(DB00909)	GGCCTTGGGGCGCCCGGGAGG	0.647																																						ENST00000378357.4																			0				kidney(1)|large_intestine(3)|lung(5)|ovary(4)|prostate(1)|skin(2)|urinary_tract(1)	17						c.(802-804)Cgc>Tgc		carbonic anhydrase IX							118	123	121					9																	35676348		2203	4300	6503	SO:0001583	missense	768				one-carbon metabolic process	integral to membrane|microvillus membrane|nucleolus	carbonate dehydratase activity|zinc ion binding	g.chr9:35676348C>T	X66839	CCDS6585.1	9p13.3	2012-08-21			ENSG00000107159	ENSG00000107159		"Carbonic anhydrases"	1383	protein-coding gene	gene with protein product	"carbonic dehydratase", "RCC-associated protein G250"	603179				8661007, 9787087	Standard	NM_001216		Approved	MN, CAIX	uc003zxo.4	Q16790	OTTHUMG00000021029	ENST00000378357.4:c.802C>T	9.37:g.35676348C>T	ENSP00000367608:p.Arg268Cys					CA9_ENST00000493245.1_Intron	p.R268C	NM_001216.2	NP_001207.2	Q16790	CAH9_HUMAN	Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)		5	906	+	all_epithelial(49;0.217)		268			Catalytic.		Q5T4R1	Missense_Mutation	SNP	ENST00000378357.4	37	c.802C>T	CCDS6585.1	.	.	.	.	.	.	.	.	.	.	C	15.87	2.962008	0.53400	.	.	ENSG00000107159	ENST00000378357;ENST00000544074	T	0.53857	0.6	4.85	4.85	0.62838	Carbonic anhydrase, alpha-class, catalytic domain (4);	0.199693	0.33457	N	0.004885	T	0.67970	0.2950	M	0.62723	1.935	0.48236	D	0.999613	D;D	0.89917	1.0;1.0	D;D	0.70016	0.952;0.967	T	0.70447	-0.4869	10	0.87932	D	0	.	13.6467	0.62286	0.0:1.0:0.0:0.0	.	268;268	F5H404;Q16790	.;CAH9_HUMAN	C	268	ENSP00000367608:R268C	ENSP00000367608:R268C	R	+	1	0	CA9	35666348	0.121000	0.22262	0.999000	0.59377	0.026000	0.11368	1.123000	0.31308	2.676000	0.91093	0.655000	0.94253	CGC		0.647	CA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055479.1	NM_001216		5	151	0	0	0	1	0	5	151					T	35676348	C	T	35676348	3	4	253	1	0	0	0	0	1	0	0	0	2524	768	27	1	820	1	CA9	9	35676348	Missense_Mutation	SNP	C	TCGA-HC-A8CY-01A-11D-A364-08		35676348	105537083	17	11856											
IFIT2	3433	broad.mit.edu	37	chr10	91066938	91066938	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	accagaaatcaagggagaaaGaaaagatgaaagacaaactg	23	3	10	5	0	1	6	1	1	0	5	1	7	1	6	1	1	1	0	1	1	7	0			TCGA-HC-A8CY-01A-11D-A364-08	TCGA-HC-A8CY-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ff7f1d-b776-4a67-9927-4071226f30f4	2cacf700-84ab-4917-8c2e-0f38205063dd	g.chr10:91066938G>A	ENST00000371826.3	+	2	1394	c.1225G>A	c.(1225-1227)Gaa>Aaa	p.E409K	LIPA_ENST00000487618.1_Intron|LIPA_ENST00000371837.1_Intron	NM_001547.4	NP_001538.4	P09913	IFIT2_HUMAN	interferon-induced protein with tetratricopeptide repeats 2	409					apoptotic mitochondrial changes (GO:0008637)|cellular response to interferon-alpha (GO:0035457)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|negative regulation of protein binding (GO:0032091)|positive regulation of apoptotic process (GO:0043065)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)	poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(2)|large_intestine(5)|lung(2)|ovary(1)|skin(1)	12		Colorectal(252;0.0161)				AAGGGAGAAAGAAAAGATGAA	0.408																																						ENST00000371826.3																			0				endometrium(1)|kidney(2)|large_intestine(5)|lung(2)|ovary(1)|skin(1)	12						c.(1225-1227)Gaa>Aaa		interferon-induced protein with tetratricopeptide repeats 2							110	101	104					10																	91066938		1830	4095	5925	SO:0001583	missense	3433				negative regulation of protein binding|response to virus|type I interferon-mediated signaling pathway		protein binding	g.chr10:91066938G>A	M14660	CCDS41548.1	10q23.31	2013-01-11			ENSG00000119922	ENSG00000119922		"Tetratricopeptide (TTC) repeat domain containing"	5409	protein-coding gene	gene with protein product		147040		IFI54, G10P2		3175763, 3360121	Standard	NM_001547		Approved	IFI-54, ISG-54K, cig42, GARG-39	uc009xts.3	P09913	OTTHUMG00000018707	ENST00000371826.3:c.1225G>A	10.37:g.91066938G>A	ENSP00000360891:p.Glu409Lys					LIPA_ENST00000487618.1_Intron|LIPA_ENST00000371837.1_Intron	p.E409K	NM_001547.4	NP_001538.4	P09913	IFIT2_HUMAN			2	1394	+		Colorectal(252;0.0161)	409					Q5T767	Missense_Mutation	SNP	ENST00000371826.3	37	c.1225G>A	CCDS41548.1	.	.	.	.	.	.	.	.	.	.	G	11.38	1.622142	0.28889	.	.	ENSG00000119922	ENST00000371826	T	0.14144	2.53	4.58	3.66	0.41972	.	0.806535	0.10916	N	0.619985	T	0.12689	0.0308	L	0.45051	1.395	0.09310	N	1	B	0.27498	0.18	B	0.20577	0.03	T	0.16719	-1.0393	10	0.28530	T	0.3	3.0E-4	11.3624	0.49651	0.1581:0.0:0.8419:0.0	.	409	P09913	IFIT2_HUMAN	K	409	ENSP00000360891:E409K	ENSP00000360891:E409K	E	+	1	0	IFIT2	91056918	0.000000	0.05858	0.554000	0.28268	0.080000	0.17528	0.806000	0.27126	1.498000	0.48600	0.655000	0.94253	GAA		0.408	IFIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049293.1	NM_001547		30	60	0	0	0	1	0	30	60					A	91066938	G	A	91066938	3	1	253	1	0	0	0	0	1	0	0	0	7523	943	33	3	1231	3	IFIT2	10	91066938	Missense_Mutation	SNP	G	TCGA-HC-A8CY-01A-11D-A364-08		91066938	44467809	18	11857											
NELL1	4745	broad.mit.edu	37	chr11	20869195	20869195	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cactacatacacaatgggaaGccaaggacagaggcacttcc	15	5	9	12	0	0	1	0	0	0	1	1	3	1	3	2	3	3	1	2	3	5	3			TCGA-HC-A8CY-01A-11D-A364-08	TCGA-HC-A8CY-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ff7f1d-b776-4a67-9927-4071226f30f4	2cacf700-84ab-4917-8c2e-0f38205063dd	g.chr11:20869195G>A	ENST00000357134.5	+	4	554	c.402G>A	c.(400-402)aaG>aaA	p.K134K	NELL1_ENST00000532434.1_Silent_p.K134K|NELL1_ENST00000325319.5_Intron|NELL1_ENST00000298925.5_Silent_p.K162K	NM_006157.3|NM_201551.1	NP_006148.2|NP_963845.1	Q92832	NELL1_HUMAN	NEL-like 1 (chicken)	134	Laminin G-like.				cell differentiation (GO:0030154)|negative regulation of cyclin catabolic process (GO:2000599)|negative regulation of osteoblast proliferation (GO:0033689)|nervous system development (GO:0007399)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|regulation of gene expression (GO:0010468)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|nuclear envelope (GO:0005635)|perinuclear region of cytoplasm (GO:0048471)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	70						ACAATGGGAAGCCAAGGACAG	0.463																																						ENST00000298925.5																			0				NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	70						c.(484-486)aaG>aaA		NEL-like 1 (chicken)							243	170	195					11																	20869195		2203	4300	6503	SO:0001819	synonymous_variant	4745				cell adhesion|nervous system development	extracellular region	calcium ion binding|structural molecule activity	g.chr11:20869195G>A	AK127805	CCDS7855.1, CCDS44555.1, CCDS73267.1, CCDS73268.1	11p15.1	2008-02-01	2001-11-28		ENSG00000165973	ENSG00000165973			7750	protein-coding gene	gene with protein product		602319	"nel (chicken)-like 1"			8975702	Standard	NM_006157		Approved	IDH3GL, FLJ45906	uc001mqe.3	Q92832	OTTHUMG00000166042	ENST00000357134.5:c.402G>A	11.37:g.20869195G>A						NELL1_ENST00000325319.5_Intron|NELL1_ENST00000532434.1_Silent_p.K134K|NELL1_ENST00000357134.5_Silent_p.K134K	p.K162K			Q92832	NELL1_HUMAN			5	639	+			134			TSP N-terminal.		B2CKC1|Q4VB90|Q4VB91|Q6NSY8|Q9Y472	Silent	SNP	ENST00000357134.5	37	c.486G>A	CCDS7855.1																																																																																				0.463	NELL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387588.1	NM_006157		13	24	0	0	0	1	0	13	24					A	20869195	G	A	20869195	2	1	253	1	0	0	0	0	0	0	0	1	10333	962	34	3		3	NELL1	11	20869195	Silent	SNP	G	TCGA-HC-A8CY-01A-11D-A364-08		20869195	114137321	19	11858											
LTBP3	4054	broad.mit.edu	37	chr11	65310638	65310638	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aaagacatctgtaggagccaTtggtattgatgcagtcaccc	12	10	10	9	0	2	2	1	1	1	1	2	3	2	3	2	2	2	3	2	2	3	4			TCGA-HC-A8CY-01A-11D-A364-08	TCGA-HC-A8CY-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ff7f1d-b776-4a67-9927-4071226f30f4	2cacf700-84ab-4917-8c2e-0f38205063dd	g.chr11:65310638T>G	ENST00000301873.5	-	18	2802	c.2534A>C	c.(2533-2535)aAt>aCt	p.N845T	LTBP3_ENST00000529189.1_5'UTR|LTBP3_ENST00000530785.1_5'UTR|LTBP3_ENST00000532932.1_Missense_Mutation_p.N275T|LTBP3_ENST00000536982.1_Missense_Mutation_p.N471T|LTBP3_ENST00000322147.4_Missense_Mutation_p.N845T	NM_001130144.2	NP_001123616.1	Q9NS15	LTBP3_HUMAN	latent transforming growth factor beta binding protein 3	845	Cys-rich.|EGF-like 8; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				bone morphogenesis (GO:0060349)|bone remodeling (GO:0046849)|extracellular matrix organization (GO:0030198)|lung saccule development (GO:0060430)|negative regulation of bone mineralization (GO:0030502)|negative regulation of chondrocyte differentiation (GO:0032331)|positive regulation of bone resorption (GO:0045780)|positive regulation of mesenchymal stem cell differentiation (GO:2000741)|positive regulation of mesenchymal stem cell proliferation (GO:1902462)|transforming growth factor beta activation (GO:0036363)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|transforming growth factor beta binding (GO:0050431)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|prostate(2)|upper_aerodigestive_tract(3)	23						GTAGGAGCCATTGGTATTGAT	0.577																																						ENST00000301873.5																			0				breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|prostate(2)|upper_aerodigestive_tract(3)	23						c.(2533-2535)aAt>aCt		latent transforming growth factor beta binding protein 3							127	111	116					11																	65310638		2201	4297	6498	SO:0001583	missense	4054					extracellular region	calcium ion binding|growth factor binding	g.chr11:65310638T>G	AF135960	CCDS8103.1, CCDS44647.1	11q12	2011-10-20			ENSG00000168056	ENSG00000168056		"Latent transforming growth factor, beta binding proteins"	6716	protein-coding gene	gene with protein product		602090		LTBP2		7719025	Standard	NM_001164266		Approved		uc001oej.3	Q9NS15	OTTHUMG00000166575	ENST00000301873.5:c.2534A>C	11.37:g.65310638T>G	ENSP00000301873:p.Asn845Thr					LTBP3_ENST00000536982.1_Missense_Mutation_p.N471T|LTBP3_ENST00000322147.4_Missense_Mutation_p.N845T|LTBP3_ENST00000530785.1_5'UTR|LTBP3_ENST00000532932.1_Missense_Mutation_p.N275T|LTBP3_ENST00000529189.1_5'UTR	p.N845T	NM_001130144.2	NP_001123616.1	Q9NS15	LTBP3_HUMAN			18	2802	-			845			Cys-rich.|EGF-like 8; calcium-binding (Potential).		O15107|Q96HB9|Q9H7K2|Q9UFN4	Missense_Mutation	SNP	ENST00000301873.5	37	c.2534A>C	CCDS44647.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	11.65|11.65	1.701075|1.701075	0.30142|0.30142	.|.	.|.	ENSG00000168056|ENSG00000168056	ENST00000322147;ENST00000301873;ENST00000532932;ENST00000536982;ENST00000530866|ENST00000526927	D;D;D;D;D|.	0.91894|.	-2.93;-2.93;-2.93;-2.93;-2.93|.	4.23|4.23	4.23|4.23	0.50019|0.50019	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);|.	0.261494|.	0.39407|.	N|.	0.001375|.	T|T	0.30696|0.30696	0.0773|0.0773	N|N	0.25286|0.25286	0.73|0.73	0.27152|0.27152	N|N	0.961385|0.961385	P;P;P;P;P;P|.	0.52170|.	0.698;0.951;0.488;0.454;0.622;0.536|.	B;P;B;B;B;B|.	0.50109|.	0.2;0.631;0.101;0.104;0.275;0.288|.	T|T	0.17501|0.17501	-1.0367|-1.0367	10|5	0.14656|.	T|.	0.56|.	.|.	7.8791|7.8791	0.29612|0.29612	0.0:0.0:0.2102:0.7898|0.0:0.0:0.2102:0.7898	.|.	756;471;728;845;845;275|.	E9PKW1;F5GWC4;B9EG76;Q9NS15;Q9NS15-2;E9PJR2|.	.;.;.;LTBP3_HUMAN;.;.|.	T|H	845;845;275;471;756|495	ENSP00000326647:N845T;ENSP00000301873:N845T;ENSP00000435530:N275T;ENSP00000441912:N471T;ENSP00000435276:N756T|.	ENSP00000301873:N845T|.	N|Q	-|-	2|3	0|2	LTBP3|LTBP3	65067214|65067214	0.469000|0.469000	0.25846|0.25846	1.000000|1.000000	0.80357|0.80357	0.986000|0.986000	0.74619|0.74619	0.498000|0.498000	0.22530|0.22530	1.543000|1.543000	0.49345|0.49345	0.363000|0.363000	0.22086|0.22086	AAT|CAA		0.577	LTBP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390538.1	NM_021070		5	74	0	0	0	1	0	5	74					G	65310638	T	G	65310638	3	3	253	1	0	0	0	0	1	0	0	0	9075	1493	52	5	1421	5	LTBP3	11	65310638	Missense_Mutation	SNP	T	TCGA-HC-A8CY-01A-11D-A364-08	44441443	65310638	69695878	20	11859											
DLG2	1740	broad.mit.edu	37	chr11	83691655	83691655	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ctccaggaatgtgttggttcCccacacctcctgcaatactg	8	11	8	14	0	0	0	0	0	0	0	3	1	3	1	5	2	2	3	5	2	3	3			TCGA-HC-A8CY-01A-11D-A364-08	TCGA-HC-A8CY-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ff7f1d-b776-4a67-9927-4071226f30f4	2cacf700-84ab-4917-8c2e-0f38205063dd	g.chr11:83691655C>T	ENST00000532653.1	-	7	937	c.635G>A	c.(634-636)gGg>gAg	p.G212E	DLG2_ENST00000531015.1_Missense_Mutation_p.G179E|DLG2_ENST00000543673.1_Missense_Mutation_p.G317E|DLG2_ENST00000398309.2_Missense_Mutation_p.G212E|DLG2_ENST00000330014.6_Missense_Mutation_p.G151E|DLG2_ENST00000524982.1_Missense_Mutation_p.G212E|DLG2_ENST00000376106.3_5'UTR|DLG2_ENST00000418306.2_Missense_Mutation_p.G161E|DLG2_ENST00000398301.2_Missense_Mutation_p.G251E|DLG2_ENST00000376104.2_Missense_Mutation_p.G317E|DLG2_ENST00000280241.8_Missense_Mutation_p.G251E|DLG2_ENST00000537455.1_5'UTR			Q14168	MPP2_HUMAN	discs, large homolog 2 (Drosophila)	184	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				nucleotide phosphorylation (GO:0046939)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	guanylate kinase activity (GO:0004385)			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(11)|lung(35)|ovary(3)|pancreas(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	71		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)				GTGTTGGTTCCCCACACCTCC	0.383																																						ENST00000398309.2																			0				breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(11)|lung(35)|ovary(3)|pancreas(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	71						c.(634-636)gGg>gAg		discs, large homolog 2 (Drosophila)							154	141	145					11																	83691655		1876	4097	5973	SO:0001583	missense	1740					cell junction|postsynaptic density|postsynaptic membrane	guanylate kinase activity|protein binding	g.chr11:83691655C>T	U32376	CCDS41696.1, CCDS44690.1, CCDS44691.1, CCDS44692.1, CCDS55782.1, CCDS73357.1	11q21	2012-04-17	2008-12-15		ENSG00000150672	ENSG00000150672		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	2901	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 58"	603583	"discs, large homolog 2, chapsyn-110 (Drosophila)"			8755482, 9806853	Standard	NM_001142702		Approved	PSD-93, PSD93, chapsyn-110, PPP1R58	uc001pak.2	Q15700	OTTHUMG00000134309	ENST00000532653.1:c.635G>A	11.37:g.83691655C>T	ENSP00000435849:p.Gly212Glu					DLG2_ENST00000280241.8_Missense_Mutation_p.G251E|DLG2_ENST00000543673.1_Missense_Mutation_p.G317E|DLG2_ENST00000376104.2_Missense_Mutation_p.G317E|DLG2_ENST00000376106.3_5'UTR|DLG2_ENST00000537455.1_5'UTR|DLG2_ENST00000330014.6_Missense_Mutation_p.G151E|DLG2_ENST00000418306.2_Missense_Mutation_p.G161E|DLG2_ENST00000532653.1_Missense_Mutation_p.G212E|DLG2_ENST00000524982.1_Missense_Mutation_p.G212E|DLG2_ENST00000398301.2_Missense_Mutation_p.G251E|DLG2_ENST00000531015.1_Missense_Mutation_p.G179E	p.G212E	NM_001364.3	NP_001355.2	Q15700	DLG2_HUMAN			7	1105	-		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)	212			PDZ 2.		B4DGE9|B4DRJ0|B7Z3G8|E7EV80|E7EV91|E7EX01|Q53ES9|Q5CZB9|Q9BQJ2	Missense_Mutation	SNP	ENST00000532653.1	37	c.635G>A		.	.	.	.	.	.	.	.	.	.	C	31	5.075505	0.94000	.	.	ENSG00000150672	ENST00000398309;ENST00000376104;ENST00000418306;ENST00000543673;ENST00000280241;ENST00000330014;ENST00000524982;ENST00000532653;ENST00000546021;ENST00000531015;ENST00000398301;ENST00000398299	T;T;T;T;T;T;T;T;T;T;T	0.38401	1.14;1.14;1.14;1.14;1.14;1.14;1.14;1.14;1.14;1.14;1.14	5.71	5.71	0.89125	PDZ/DHR/GLGF (4);	0.000000	0.64402	D	0.000001	T	0.55768	0.1941	L	0.47190	1.495	0.80722	D	1	D;D;D;D;D;D;D;D	0.89917	1.0;1.0;0.997;1.0;1.0;1.0;0.989;1.0	D;D;D;D;D;D;D;D	0.97110	1.0;1.0;0.958;0.968;0.999;1.0;0.937;1.0	T	0.46456	-0.9190	9	.	.	.	.	19.8516	0.96743	0.0:1.0:0.0:0.0	.	179;212;212;151;251;317;212;161	E9PIW2;B7Z2T4;E9PN83;B7Z264;Q6ZSU2;Q15700-2;Q15700;Q15700-3	.;.;.;.;.;.;DLG2_HUMAN;.	E	212;317;161;317;251;151;212;212;317;179;251;129	ENSP00000381355:G212E;ENSP00000365272:G317E;ENSP00000402275:G161E;ENSP00000441994:G317E;ENSP00000280241:G251E;ENSP00000381353:G151E;ENSP00000432894:G212E;ENSP00000435849:G212E;ENSP00000433848:G179E;ENSP00000381346:G251E;ENSP00000381344:G129E	.	G	-	2	0	DLG2	83369303	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.487000	0.81328	2.685000	0.91497	0.585000	0.79938	GGG		0.383	DLG2-009	NOVEL	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000259253.2	NM_001364		42	61	0	0	0	1	0	42	61					T	83691655	C	T	83691655	3	4	253	1	0	0	0	0	1	0	0	0	4555	623	22	3	2095	3	DLG2	11	83691655	Missense_Mutation	SNP	C	TCGA-HC-A8CY-01A-11D-A364-08	18381017	83691655	51314861	21	11860											
PDGFD	80310	broad.mit.edu	37	chr11	103870820	103870820	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctctaatccaaactgattGtcaaacactagctgtatccg	12	12	5	12	1	2	1	1	1	1	0	5	1	5	1	3	0	3	2	3	0	5	4			TCGA-HC-A8CY-01A-11D-A364-08	TCGA-HC-A8CY-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ff7f1d-b776-4a67-9927-4071226f30f4	2cacf700-84ab-4917-8c2e-0f38205063dd	g.chr11:103870820G>T	ENST00000393158.2	-	2	467	c.288C>A	c.(286-288)gaC>gaA	p.D96E	PDGFD_ENST00000302251.5_Missense_Mutation_p.D90E			Q9GZP0	PDGFD_HUMAN	platelet derived growth factor D	96	CUB. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cellular response to amino acid stimulus (GO:0071230)|multicellular organismal development (GO:0007275)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of cell division (GO:0051781)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)				biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(8)|prostate(3)|upper_aerodigestive_tract(1)	23		Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Melanoma(852;0.0563)|all_neural(303;0.165)		BRCA - Breast invasive adenocarcinoma(274;0.00136)|Epithelial(105;0.111)		CAAACTGATTGTCAAACACTA	0.418																																						ENST00000302251.5																			0				biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(8)|prostate(3)|upper_aerodigestive_tract(1)	23						c.(268-270)gaC>gaA		platelet derived growth factor D							123	123	123					11																	103870820		2202	4299	6501	SO:0001583	missense	80310				positive regulation of cell division	endoplasmic reticulum lumen|extracellular region|Golgi membrane	growth factor activity	g.chr11:103870820G>T	AF113216	CCDS8326.1, CCDS41703.1	11q22.3	2008-02-05			ENSG00000170962	ENSG00000170962			30620	protein-coding gene	gene with protein product	"spinal cord derived growth factor B"	609673				11162582, 11980634	Standard	NM_033135		Approved	SCDGF-B, MSTP036, IEGF	uc001phq.3	Q9GZP0	OTTHUMG00000165953	ENST00000393158.2:c.288C>A	11.37:g.103870820G>T	ENSP00000376865:p.Asp96Glu					PDGFD_ENST00000393158.2_Missense_Mutation_p.D96E	p.D90E	NM_025208.4|NM_033135.3	NP_079484.1|NP_149126.1	Q9GZP0	PDGFD_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.00136)|Epithelial(105;0.111)	2	721	-		Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Melanoma(852;0.0563)|all_neural(303;0.165)	96			CUB.		A8K9T6|Q9BWV5	Missense_Mutation	SNP	ENST00000393158.2	37	c.270C>A	CCDS41703.1	.	.	.	.	.	.	.	.	.	.	G	10.98	1.504243	0.26949	.	.	ENSG00000170962	ENST00000393158;ENST00000302251;ENST00000529268	T;T;T	0.16073	2.37;2.37;2.37	5.55	3.65	0.41850	CUB (5);	0.095784	0.64402	D	0.000002	T	0.28599	0.0708	L	0.41236	1.265	0.48040	D	0.999577	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.996	T	0.01316	-1.1387	10	0.40728	T	0.16	-28.3284	9.4403	0.38664	0.2504:0.0:0.7496:0.0	.	96;90	Q9GZP0;Q9GZP0-2	PDGFD_HUMAN;.	E	96;90;119	ENSP00000376865:D96E;ENSP00000302193:D90E;ENSP00000432909:D119E	ENSP00000302193:D90E	D	-	3	2	PDGFD	103376030	0.994000	0.37717	1.000000	0.80357	0.042000	0.13812	1.365000	0.34182	1.484000	0.48361	0.561000	0.74099	GAC		0.418	PDGFD-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000387231.2	NM_025208		34	55	1	0	3.11337e-16	1	3.33576e-16	34	55					T	103870820	G	T	103870820	3	4	253	1	0	0	0	0	1	0	0	0	11660	1368	48	5	848	5	PDGFD	11	103870820	Missense_Mutation	SNP	G	TCGA-HC-A8CY-01A-11D-A364-08	20179165	103870820	31135696	22	11861											
CD163	9332	broad.mit.edu	37	chr12	7653874	7653874	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atgcgtccagaacctgcactGgaattagcccatccaggggc	10	7	11	13	1	0	1	0	0	0	1	2	2	2	2	4	3	4	1	4	3	3	1			TCGA-HC-A8CY-01A-11D-A364-08	TCGA-HC-A8CY-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ff7f1d-b776-4a67-9927-4071226f30f4	2cacf700-84ab-4917-8c2e-0f38205063dd	g.chr12:7653874G>A	ENST00000359156.4	-	3	520	c.318C>T	c.(316-318)tcC>tcT	p.S106S	CD163_ENST00000396620.3_Silent_p.S106S|CD163_ENST00000432237.2_Silent_p.S106S|CD163_ENST00000541972.1_Silent_p.S94S	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN	CD163 molecule	106	SRCR 1. {ECO:0000255|PROSITE- ProRule:PRU00196}.				acute-phase response (GO:0006953)|receptor-mediated endocytosis (GO:0006898)	endocytic vesicle membrane (GO:0030666)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76					WF10(DB05389)	AACCTGCACTGGAATTAGCCC	0.483																																						ENST00000359156.4																			0				breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76						c.(316-318)tcC>tcT		CD163 molecule							131	128	129					12																	7653874		2203	4300	6503	SO:0001819	synonymous_variant	9332				acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity	g.chr12:7653874G>A	Z22968	CCDS8578.1, CCDS53742.1	12p13	2006-03-28	2006-03-28		ENSG00000177575	ENSG00000177575		"CD molecules"	1631	protein-coding gene	gene with protein product		605545	"CD163 antigen"			10403791, 8370408	Standard	NM_004244		Approved	M130, MM130	uc001qsz.3	Q86VB7	OTTHUMG00000168353	ENST00000359156.4:c.318C>T	12.37:g.7653874G>A						CD163_ENST00000396620.3_Silent_p.S106S|CD163_ENST00000541972.1_Silent_p.S94S|CD163_ENST00000432237.2_Silent_p.S106S	p.S106S	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN			3	520	-			106			SRCR 1.		C9JIG2|Q07898|Q07899|Q07900|Q07901|Q2VLH7	Silent	SNP	ENST00000359156.4	37	c.318C>T	CCDS8578.1																																																																																				0.483	CD163-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000399396.2	NM_004244, NM_203416		50	56	0	0	0	1	0	50	56					A	7653874	G	A	7653874	2	1	253	1	0	0	0	0	0	0	0	1	2967	1335	47	3		3	CD163	12	7653874	Silent	SNP	G	TCGA-HC-A8CY-01A-11D-A364-08		7653874	126198021	23	11862											
KRT86	3892	broad.mit.edu	37	chr12	52700020	52700020	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tccaagctgggcctggacatCgagatcgccacctacaggcg	9	6	12	14	3	0	1	0	0	0	1	3	3	1	2	4	3	2	1	4	3	2	1			TCGA-HC-A8CY-01A-11D-A364-08	TCGA-HC-A8CY-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ff7f1d-b776-4a67-9927-4071226f30f4	2cacf700-84ab-4917-8c2e-0f38205063dd	g.chr12:52700020C>T	ENST00000423955.2	+	9	1381	c.1203C>T	c.(1201-1203)atC>atT	p.I401I	RP11-845M18.6_ENST00000552441.1_RNA|KRT86_ENST00000293525.5_Silent_p.I401I|KRT86_ENST00000544024.1_Silent_p.I401I			O43790	KRT86_HUMAN	keratin 86	401	Coil 2.|Rod.					extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			breast(1)|cervix(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	10				BRCA - Breast invasive adenocarcinoma(357;0.189)		GCCTGGACATCGAGATCGCCA	0.627											OREG0021845	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000293525.5																			0				breast(1)|cervix(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	10						c.(1201-1203)atC>atT		keratin 86							72	73	73					12																	52700020		2203	4296	6499	SO:0001819	synonymous_variant	3892				cytoskeleton organization	keratin filament	structural molecule activity	g.chr12:52700020C>T	X99142	CCDS41785.1	12q13	2013-01-16	2006-07-17	2006-07-17		ENSG00000170442		"-", "Intermediate filaments type II, keratins (basic)"	6463	protein-coding gene	gene with protein product	"hard keratin type II 6"	601928	"keratin, hair, basic, 6 (monilethrix)"	KRTHB6		9241275, 16831889	Standard	NM_002284		Approved	MNX, Hb6	uc001sad.3	O43790		ENST00000423955.2:c.1203C>T	12.37:g.52700020C>T			OREG0021845	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	987	KRT86_ENST00000544024.1_Silent_p.I401I|KRT86_ENST00000423955.2_Silent_p.I401I	p.I401I	NM_002284.3	NP_002275.1	O43790	KRT86_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.189)	7	1255	+			401			Coil 2.|Rod.		P78387	Silent	SNP	ENST00000423955.2	37	c.1203C>T	CCDS41785.1																																																																																				0.627	KRT86-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404911.1	NM_002284		40	60	0	0	0	1	0	40	60					T	52700020	C	T	52700020	2	4	253	1	0	0	0	0	0	0	0	1	8500	874	31	2		2	KRT86	12	52700020	Silent	SNP	C	TCGA-HC-A8CY-01A-11D-A364-08	45046146	52700020	81151875	24	11863											
KIF5A	3798	broad.mit.edu	37	chr12	57957251	57957251	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tatgtttttgaccgtgtattCcccccaaacacgactcaaga	11	12	6	12	2	1	2	1	1	0	1	2	3	2	2	4	0	1	2	4	0	4	5	rs536777412		TCGA-HC-A8CY-01A-11D-A364-08	TCGA-HC-A8CY-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ff7f1d-b776-4a67-9927-4071226f30f4	2cacf700-84ab-4917-8c2e-0f38205063dd	g.chr12:57957251C>T	ENST00000455537.2	+	2	433	c.159C>T	c.(157-159)ttC>ttT	p.F53F	KIF5A_ENST00000286452.5_Intron	NM_004984.2	NP_004975.2	Q12840	KIF5A_HUMAN	kinesin family member 5A	53	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell death (GO:0008219)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|protein localization (GO:0008104)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|motor activity (GO:0003774)|plus-end-directed microtubule motor activity (GO:0008574)			breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(32)|ovary(2)|prostate(2)|skin(2)	62						ACCGTGTATTCCCCCCAAACA	0.418													C|||	1	0.000199681	8e-04	0	5008	,	,		22099	0		0	False		,,,				2504	0					ENST00000455537.2																			0				breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(32)|ovary(2)|prostate(2)|skin(2)	62						c.(157-159)ttC>ttT		kinesin family member 5A							98	88	91					12																	57957251		2203	4300	6503	SO:0001819	synonymous_variant	3798				blood coagulation|cell death|microtubule-based movement|synaptic transmission	cytosol|kinesin complex|membrane fraction|microtubule|perinuclear region of cytoplasm	ATP binding|microtubule motor activity	g.chr12:57957251C>T	U06698	CCDS8945.1	12q13.13	2011-07-15	2004-02-13			ENSG00000155980		"Kinesins"	6323	protein-coding gene	gene with protein product		602821	"spastic paraplegia 10 (autosomal dominant)"	SPG10		9858832, 10441583, 16489470	Standard	NM_004984		Approved	D12S1889, NKHC, MY050	uc001sor.1	Q12840	OTTHUMG00000170143	ENST00000455537.2:c.159C>T	12.37:g.57957251C>T						KIF5A_ENST00000286452.5_Intron	p.F53F	NM_004984.2	NP_004975.2	Q12840	KIF5A_HUMAN			2	433	+			53			Kinesin-motor.		A6H8M5|Q4LE26	Silent	SNP	ENST00000455537.2	37	c.159C>T	CCDS8945.1																																																																																				0.418	KIF5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407634.1	NM_004984		6	82	0	0	0	1	0	6	82					T	57957251	C	T	57957251	2	4	253	1	0	0	0	0	0	0	0	1	8305	854	30	3		3	KIF5A	12	57957251	Silent	SNP	C	TCGA-HC-A8CY-01A-11D-A364-08	5257231	57957251	75894644	25	11864											
WIF1	11197	broad.mit.edu	37	chr12	65461530	65461530	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cactcgcagatgcgtctttcAttacaaaagcctccatttcg	10	12	6	13	3	2	1	1	0	1	1	5	1	3	1	2	0	3	1	2	0	3	3			TCGA-HC-A8CY-01A-11D-A364-08	TCGA-HC-A8CY-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ff7f1d-b776-4a67-9927-4071226f30f4	2cacf700-84ab-4917-8c2e-0f38205063dd	g.chr12:65461530A>G	ENST00000286574.4	-	5	953	c.579T>C	c.(577-579)aaT>aaC	p.N193N		NM_007191.4	NP_009122.2	Q9Y5W5	WIF1_HUMAN	WNT inhibitory factor 1	193	EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00076}.				multicellular organismal development (GO:0007275)|positive regulation of fat cell differentiation (GO:0045600)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055)	extracellular region (GO:0005576)				cervix(1)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1)	21			LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975)	GBM - Glioblastoma multiforme(28;0.0231)		TGCGTCTTTCATTACAAAAGC	0.493			T	HMGA2	pleomorphic salivary gland adenoma																																Esophageal Squamous(148;1595 1816 48559 49439 49664)	ENST00000286574.4				Dom	yes		12	12q14.3	11197	T	WNT inhibitory factor 1			E	HMGA2		pleomorphic salivary gland adenoma		0				cervix(1)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1)	21						c.(577-579)aaT>aaC		WNT inhibitory factor 1							95	85	88					12																	65461530		2203	4300	6503	SO:0001819	synonymous_variant	11197				multicellular organismal development|Wnt receptor signaling pathway	extracellular region	protein tyrosine kinase activity	g.chr12:65461530A>G	AF122922	CCDS8971.1	12q14.2	2008-04-11			ENSG00000156076	ENSG00000156076			18081	protein-coding gene	gene with protein product		605186				10201374	Standard	NM_007191		Approved		uc001ssk.3	Q9Y5W5	OTTHUMG00000168832	ENST00000286574.4:c.579T>C	12.37:g.65461530A>G							p.N193N	NM_007191.4	NP_009122.2	Q9Y5W5	WIF1_HUMAN	LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975)	GBM - Glioblastoma multiforme(28;0.0231)	5	953	-			193			EGF-like 1.		Q6UXI1|Q8WVG4	Silent	SNP	ENST00000286574.4	37	c.579T>C	CCDS8971.1																																																																																				0.493	WIF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401258.2			17	30	0	0	0	1	0	17	30					G	65461530	A	G	65461530	2	3	253	1	0	0	0	0	0	0	0	1	17363	214	8	4		4	WIF1	12	65461530	Silent	SNP	A	TCGA-HC-A8CY-01A-11D-A364-08	7504279	65461530	68390365	26	11865											
SAP18	10284	broad.mit.edu	37	chr13	21721465	21721465	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggcaccacctccttcagggcGcatgagaccatattaaattc	11	9	8	13	1	1	1	1	1	0	1	3	2	2	1	4	2	0	2	4	2	3	4	rs376710499		TCGA-HC-A8CY-01A-11D-A364-08	TCGA-HC-A8CY-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ff7f1d-b776-4a67-9927-4071226f30f4	2cacf700-84ab-4917-8c2e-0f38205063dd	g.chr13:21721465G>A	ENST00000607003.1	+	4	478	c.446G>A	c.(445-447)cGc>cAc	p.R149H	SAP18_ENST00000382533.4_Missense_Mutation_p.R168H			O00422	SAP18_HUMAN	Sin3A-associated protein, 18kDa	149	Involved in splicing regulation activity.				mRNA processing (GO:0006397)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|positive regulation of apoptotic process (GO:0043065)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	ASAP complex (GO:0061574)|cytoplasm (GO:0005737)|histone deacetylase complex (GO:0000118)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|transcription corepressor activity (GO:0003714)	p.R149H(1)		kidney(1)|large_intestine(1)|lung(4)	6		all_cancers(29;2.16e-20)|all_epithelial(30;2.97e-18)|all_lung(29;4.58e-16)|Lung SC(185;0.0262)|Breast(139;0.147)		all cancers(112;9.79e-05)|Epithelial(112;0.000292)|OV - Ovarian serous cystadenocarcinoma(117;0.00276)|Lung(94;0.0941)		CCTTCAGGGCGCATGAGACCA	0.403																																						ENST00000382533.4																			1	Substitution - Missense(1)	p.R149H(1)	kidney(1)	kidney(1)|large_intestine(1)|lung(4)	6						c.(502-504)cGc>cAc		Sin3A-associated protein, 18kDa		G	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	104	109	107		503	4.1	1	13		107	0,8600		0,0,4300	no	missense	SAP18	NM_005870.4	29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	168/173	21721465	1,13005	2203	4300	6503	SO:0001583	missense	10284				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|plasma membrane	protein binding|transcription corepressor activity	g.chr13:21721465G>A	U96915	CCDS9295.2	13q12.11	2008-02-05	2006-02-02		ENSG00000150459	ENSG00000150459			10530	protein-coding gene	gene with protein product		602949	"sin3A-associated protein, 18kDa"			9150135	Standard	NM_005870		Approved	SAP18p, 2HOR0202, MGC27131	uc001uns.3	O00422	OTTHUMG00000016535	ENST00000607003.1:c.446G>A	13.37:g.21721465G>A	ENSP00000475925:p.Arg149His					SAP18_ENST00000607003.1_Missense_Mutation_p.R149H	p.R168H	NM_005870.4	NP_005861.2	O00422	SAP18_HUMAN		all cancers(112;9.79e-05)|Epithelial(112;0.000292)|OV - Ovarian serous cystadenocarcinoma(117;0.00276)|Lung(94;0.0941)	4	542	+		all_cancers(29;2.16e-20)|all_epithelial(30;2.97e-18)|all_lung(29;4.58e-16)|Lung SC(185;0.0262)|Breast(139;0.147)	149					B2R494|Q2TTR4|Q6IAW9|Q8N606|Q9UF14	Missense_Mutation	SNP	ENST00000607003.1	37	c.503G>A		.	.	.	.	.	.	.	.	.	.	G	18.41	3.617576	0.66787	2.27E-4	0.0	ENSG00000150459	ENST00000382533	.	.	.	5.87	4.11	0.48088	.	0.141472	0.64402	D	0.000005	T	0.68559	0.3014	M	0.84683	2.71	0.58432	D	0.999997	B	0.14438	0.01	B	0.11329	0.006	T	0.66139	-0.5998	9	0.52906	T	0.07	-1.9179	10.9028	0.47062	0.0671:0.0:0.802:0.1309	.	149	O00422	SAP18_HUMAN	H	168	.	ENSP00000371973:R168H	R	+	2	0	SAP18	20619465	1.000000	0.71417	0.999000	0.59377	0.912000	0.54170	9.718000	0.98758	0.790000	0.33803	0.655000	0.94253	CGC		0.403	SAP18-009	PUTATIVE	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000470725.1	NM_005870		4	126	0	0	0	1	0	4	126					A	21721465	G	A	21721465	3	1	253	1	0	0	0	0	1	0	0	0	13832	1087	38	1	517	1	SAP18	13	21721465	Missense_Mutation	SNP	G	TCGA-HC-A8CY-01A-11D-A364-08		21721465	93448413	27	11866											
ZC3H13	23091	broad.mit.edu	37	chr13	46577302	46577302	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtctctcttttctctttgtcGttcaaaatctcgtcctctgt	4	20	5	12	2	6	0	1	0	5	0	11	0	7	0	1	0	0	1	1	0	2	4			TCGA-HC-A8CY-01A-11D-A364-08	TCGA-HC-A8CY-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ff7f1d-b776-4a67-9927-4071226f30f4	2cacf700-84ab-4917-8c2e-0f38205063dd	g.chr13:46577302G>A	ENST00000242848.4	-	8	1264	c.916C>T	c.(916-918)Cga>Tga	p.R306*	ZC3H13_ENST00000470308.1_5'UTR|ZC3H13_ENST00000282007.3_Nonsense_Mutation_p.R306*			Q5T200	ZC3HD_HUMAN	zinc finger CCCH-type containing 13	306							metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.R306*(1)		cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|lung(25)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	79		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;4.18e-05)		TCTCTTTGTCGTTCAAAATCT	0.318																																					Esophageal Squamous(187;747 2077 11056 31291 44172)	ENST00000242848.4																			1	Substitution - Nonsense(1)	p.R306*(1)	large_intestine(1)	cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|lung(25)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	79						c.(916-918)Cga>Tga		zinc finger CCCH-type containing 13							194	183	186					13																	46577302		2203	4300	6503	SO:0001587	stop_gained	23091						nucleic acid binding|zinc ion binding	g.chr13:46577302G>A	AB020660	CCDS9400.1	13q14.11	2012-07-05	2006-05-15	2006-05-15	ENSG00000123200	ENSG00000123200		"Zinc fingers, CCCH-type domain containing"	20368	protein-coding gene	gene with protein product			"KIAA0853"	KIAA0853		10048485	Standard	XM_005266301		Approved	DKFZp434D1812	uc001vas.1	Q5T200	OTTHUMG00000016863	ENST00000242848.4:c.916C>T	13.37:g.46577302G>A	ENSP00000242848:p.Arg306*					ZC3H13_ENST00000470308.1_5'UTR|ZC3H13_ENST00000282007.3_Nonsense_Mutation_p.R306*	p.R306*			Q5T200	ZC3HD_HUMAN	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;4.18e-05)	8	1264	-		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	306					A2A323|O94936|Q5T1Z9|Q7Z7J3|Q8NDT6|Q9H0L6	Nonsense_Mutation	SNP	ENST00000242848.4	37	c.916C>T		.	.	.	.	.	.	.	.	.	.	G	40	8.186790	0.98696	.	.	ENSG00000123200	ENST00000242848;ENST00000282007;ENST00000431251	.	.	.	5.62	4.44	0.53790	.	0.087453	0.49305	D	0.000143	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.177	0.59633	0.0:0.0:0.1347:0.8653	.	.	.	.	X	306;306;122	.	ENSP00000242848:R306X	R	-	1	2	ZC3H13	45475303	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	5.715000	0.68430	1.069000	0.40788	-0.256000	0.11100	CGA		0.318	ZC3H13-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000044789.1	NM_015070		10	74	0	0	0	1	0	10	74					A	46577302	G	A	46577302	4	1	253	1	0	0	0	0	0	1	0	0	17562	1153	40	1	3818	1	ZC3H13	13	46577302	Nonsense_Mutation	SNP	G	TCGA-HC-A8CY-01A-11D-A364-08	24855837	46577302	68592576	28	11867											
NALCN	259232	broad.mit.edu	37	chr13	101944688	101944688	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacccagccttcctgtgaggCggcctcatagacggtgaata	9	8	11	13	2	1	3	1	2	0	1	2	3	2	3	4	3	1	0	4	3	3	3			TCGA-HC-A8CY-01A-11D-A364-08	TCGA-HC-A8CY-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ff7f1d-b776-4a67-9927-4071226f30f4	2cacf700-84ab-4917-8c2e-0f38205063dd	g.chr13:101944688C>T	ENST00000251127.6	-	8	910	c.829G>A	c.(829-831)Gcc>Acc	p.A277T	NALCN_ENST00000470333.1_5'UTR|NALCN_ENST00000376196.3_Missense_Mutation_p.A277T	NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	277					calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|cell death (GO:0008219)|ion transmembrane transport (GO:0034220)|membrane depolarization during action potential (GO:0086010)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium channel activity (GO:0005272)|voltage-gated calcium channel activity (GO:0005245)			NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					TCCTGTGAGGCGGCCTCATAG	0.458																																						ENST00000251127.6																			0				NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177						c.(829-831)Gcc>Acc		sodium leak channel, non-selective							70	60	64					13																	101944688		2203	4300	6503	SO:0001583	missense	259232					integral to membrane	sodium channel activity|voltage-gated ion channel activity	g.chr13:101944688C>T	AY141972	CCDS9498.1	13q32.3	2012-02-21	2007-04-26	2007-04-26	ENSG00000102452	ENSG00000102452		"Ion channels / Sodium leak channels, non-selective"	19082	protein-coding gene	gene with protein product		611549	"voltage gated channel like 1"	VGCNL1		17448995	Standard	XM_006719943		Approved	bA430M15.1, CanIon	uc001vox.1	Q8IZF0	OTTHUMG00000017295	ENST00000251127.6:c.829G>A	13.37:g.101944688C>T	ENSP00000251127:p.Ala277Thr					NALCN_ENST00000470333.1_5'UTR|NALCN_ENST00000376196.3_Missense_Mutation_p.A277T	p.A277T	NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN			8	910	-	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		277					Q6P2S6|Q6ZMI7|Q8IZZ1|Q8TAH1	Missense_Mutation	SNP	ENST00000251127.6	37	c.829G>A	CCDS9498.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.125483	0.77436	.	.	ENSG00000102452	ENST00000251127;ENST00000376196	D;D	0.98602	-5.02;-5.02	6.16	4.36	0.52297	Ion transport (1);	0.097291	0.64402	D	0.000001	D	0.98931	0.9637	M	0.86805	2.84	0.80722	D	1	D;D	0.76494	0.997;0.999	D;D	0.69824	0.943;0.966	D	0.98860	1.0762	10	0.54805	T	0.06	.	15.5108	0.75779	0.2434:0.7566:0.0:0.0	.	277;277	F2Z323;Q8IZF0	.;NALCN_HUMAN	T	277	ENSP00000251127:A277T;ENSP00000365367:A277T	ENSP00000251127:A277T	A	-	1	0	NALCN	100742689	1.000000	0.71417	0.029000	0.17559	0.642000	0.38348	4.717000	0.61923	0.851000	0.35264	0.650000	0.86243	GCC		0.458	NALCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045663.2	NM_052867		14	30	0	0	0	1	0	14	30					T	101944688	C	T	101944688	3	4	253	1	0	0	0	0	1	0	0	0	10148	768	27	1	4535	1	NALCN	13	101944688	Missense_Mutation	SNP	C	TCGA-HC-A8CY-01A-11D-A364-08	55367386	101944688	13225190	29	11868											
CGNL1	84952	broad.mit.edu	37	chr15	57731273	57731273	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgtggatcagttaattgaaaAatttgatcaaaaacctgggc	15	12	9	5	0	2	2	2	2	0	0	2	3	2	3	1	2	1	1	1	2	5	3			TCGA-HC-A8CY-01A-11D-A364-08	TCGA-HC-A8CY-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ff7f1d-b776-4a67-9927-4071226f30f4	2cacf700-84ab-4917-8c2e-0f38205063dd	g.chr15:57731273A>C	ENST00000281282.5	+	2	1154	c.1076A>C	c.(1075-1077)aAa>aCa	p.K359T		NM_001252335.1|NM_032866.4	NP_001239264.1|NP_116255.2	Q0VF96	CGNL1_HUMAN	cingulin-like 1	359	Head.					myosin complex (GO:0016459)|tight junction (GO:0005923)	motor activity (GO:0003774)			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(14)|ovary(4)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)	60				all cancers(107;0.121)|GBM - Glioblastoma multiforme(80;0.186)		TTAATTGAAAAATTTGATCAA	0.433																																						ENST00000281282.5																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(14)|ovary(4)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)	60						c.(1075-1077)aAa>aCa		cingulin-like 1							44	47	46					15																	57731273		2192	4292	6484	SO:0001583	missense	84952					myosin complex|tight junction	motor activity	g.chr15:57731273A>C	AY274808	CCDS10161.1	15q21.3	2011-06-10			ENSG00000128849	ENSG00000128849			25931	protein-coding gene	gene with protein product		607856				11214970	Standard	NM_001252335		Approved	FLJ14957, JACOP, KIAA1749, paracingulin	uc002aeg.3	Q0VF96	OTTHUMG00000166485	ENST00000281282.5:c.1076A>C	15.37:g.57731273A>C	ENSP00000281282:p.Lys359Thr						p.K359T	NM_001252335.1|NM_032866.4	NP_001239264.1|NP_116255.2	Q0VF96	CGNL1_HUMAN		all cancers(107;0.121)|GBM - Glioblastoma multiforme(80;0.186)	2	1154	+			359			Head.		Q05BZ4|Q52LR0|Q695C7|Q7Z2L3|Q96JV2|Q96MN6|Q9C0B4	Missense_Mutation	SNP	ENST00000281282.5	37	c.1076A>C	CCDS10161.1	.	.	.	.	.	.	.	.	.	.	A	19.12	3.766126	0.69878	.	.	ENSG00000128849	ENST00000281282	T	0.57907	0.37	5.79	4.68	0.58851	.	0.113355	0.39475	N	0.001359	T	0.69637	0.3133	M	0.71036	2.16	0.44485	D	0.997422	D	0.89917	1.0	D	0.87578	0.998	T	0.71974	-0.4430	10	0.87932	D	0	-32.122	11.4457	0.50123	0.9303:0.0:0.0697:0.0	.	359	Q0VF96	CGNL1_HUMAN	T	359	ENSP00000281282:K359T	ENSP00000281282:K359T	K	+	2	0	CGNL1	55518565	1.000000	0.71417	0.227000	0.23927	0.959000	0.62525	5.988000	0.70579	1.028000	0.39785	0.533000	0.62120	AAA		0.433	CGNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255482.2	NM_032866		22	34	0	0	0	1	0	22	34					C	57731273	A	C	57731273	3	2	253	1	0	0	0	0	1	0	0	0	3304	14	1	5	1078	5	CGNL1	15	57731273	Missense_Mutation	SNP	A	TCGA-HC-A8CY-01A-11D-A364-08		57731273	44800119	30	11869											
IGDCC3	9543	broad.mit.edu	37	chr15	65621731	65621731	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aagacatgggcactcactgtGggtctggggtccggctgccc	6	8	15	12	1	2	1	1	0	1	1	3	1	3	1	2	5	1	2	2	5	1	0			TCGA-HC-A8CY-01A-11D-A364-08	TCGA-HC-A8CY-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ff7f1d-b776-4a67-9927-4071226f30f4	2cacf700-84ab-4917-8c2e-0f38205063dd	g.chr15:65621731G>A	ENST00000327987.4	-	13	2453	c.2202C>T	c.(2200-2202)ccC>ccT	p.P734P	IGDCC3_ENST00000559231.1_5'Flank	NM_004884.3	NP_004875.2	Q8IVU1	IGDC3_HUMAN	immunoglobulin superfamily, DCC subclass, member 3	734					neuromuscular process controlling balance (GO:0050885)	integral component of plasma membrane (GO:0005887)				breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(9)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						CACTCACTGTGGGTCTGGGGT	0.642																																						ENST00000327987.4																			0				breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(9)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						c.(2200-2202)ccC>ccT		immunoglobulin superfamily, DCC subclass, member 3							70	83	79					15																	65621731		2194	4268	6462	SO:0001819	synonymous_variant	9543							g.chr15:65621731G>A	AF063936	CCDS10205.1	15q22.3-q23	2013-02-11	2009-01-08	2009-01-08	ENSG00000174498	ENSG00000174498		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	9700	protein-coding gene	gene with protein product		604184	"putative neuronal cell adhesion molecule"	PUNC		9922388	Standard	NM_004884		Approved	HsT18880	uc002aos.2	Q8IVU1	OTTHUMG00000133137	ENST00000327987.4:c.2202C>T	15.37:g.65621731G>A							p.P734P	NM_004884.3	NP_004875.2	Q8IVU1	IGDC3_HUMAN			13	2453	-			734					O95215	Silent	SNP	ENST00000327987.4	37	c.2202C>T	CCDS10205.1																																																																																				0.642	IGDCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256826.1	NM_004884		6	112	0	0	0	1	0	6	112					A	65621731	G	A	65621731	2	1	253	1	0	0	0	0	0	0	0	1	7568	1335	47	3		3	IGDCC3	15	65621731	Silent	SNP	G	TCGA-HC-A8CY-01A-11D-A364-08	7890458	65621731	36909661	31	11870											
SMAD6	4091	broad.mit.edu	37	chr15	67073650	67073650	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctggacgcgcccggcggccGcgccctggtcgtgcgcaagg	3	4	18	16	8	0	0	0	0	0	0	1	1	0	1	3	5	1	2	3	5	1	0			TCGA-HC-A8CY-01A-11D-A364-08	TCGA-HC-A8CY-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ff7f1d-b776-4a67-9927-4071226f30f4	2cacf700-84ab-4917-8c2e-0f38205063dd	g.chr15:67073650G>A	ENST00000288840.5	+	4	2299	c.1268G>A	c.(1267-1269)cGc>cAc	p.R423H	SMAD6_ENST00000338426.4_Missense_Mutation_p.R162H	NM_005585.4	NP_005576.3	O43541	SMAD6_HUMAN	SMAD family member 6	423	MH2. {ECO:0000255|PROSITE- ProRule:PRU00439}.				BMP signaling pathway (GO:0030509)|cell-substrate adhesion (GO:0031589)|fat cell differentiation (GO:0045444)|immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|negative regulation of apoptotic process (GO:0043066)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of cell proliferation (GO:0008285)|negative regulation of pathway-restricted SMAD protein phosphorylation (GO:0060394)|negative regulation of SMAD protein complex assembly (GO:0010991)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|response to estrogen (GO:0043627)|response to laminar fluid shear stress (GO:0034616)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ureteric bud development (GO:0001657)|zygotic specification of dorsal/ventral axis (GO:0007352)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|protein complex (GO:0043234)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|co-SMAD binding (GO:0070410)|I-SMAD binding (GO:0070411)|metal ion binding (GO:0046872)|R-SMAD binding (GO:0070412)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|transforming growth factor beta receptor, inhibitory cytoplasmic mediator activity (GO:0030617)|type I activin receptor binding (GO:0070698)|type I transforming growth factor beta receptor binding (GO:0034713)|ubiquitin protein ligase binding (GO:0031625)			lung(1)|skin(1)	2						CCCGGCGGCCGCGCCCTGGTC	0.726																																					Esophageal Squamous(179;72 2004 22333 39628 47290)	ENST00000288840.5																			0				lung(1)|skin(1)	2						c.(1267-1269)cGc>cAc		SMAD family member 6							10	15	13					15																	67073650		2137	4148	6285	SO:0001583	missense	4091				BMP signaling pathway|immune response|negative regulation of apoptosis|negative regulation of BMP signaling pathway|negative regulation of caspase activity|negative regulation of pathway-restricted SMAD protein phosphorylation|negative regulation of SMAD protein complex assembly|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of S phase of mitotic cell cycle|response to laminar fluid shear stress|transforming growth factor beta receptor signaling pathway|zygotic specification of dorsal/ventral axis	cytosol|transcription factor complex	co-SMAD binding|I-SMAD binding|R-SMAD binding|sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, inhibitory cytoplasmic mediator activity|type I activin receptor binding|type I transforming growth factor beta receptor binding|ubiquitin protein ligase binding	g.chr15:67073650G>A	BC012986	CCDS10221.1	15q22.31	2014-09-11	2006-11-06	2004-05-26	ENSG00000137834	ENSG00000137834		"SMADs"	6772	protein-coding gene	gene with protein product		602931	"MAD, mothers against decapentaplegic homolog 6 (Drosophila)", "SMAD, mothers against DPP homolog 6 (Drosophila)"	MADH7, MADH6		9256479	Standard	NR_027654		Approved	HsT17432	uc002aqf.3	O43541	OTTHUMG00000133218	ENST00000288840.5:c.1268G>A	15.37:g.67073650G>A	ENSP00000288840:p.Arg423His					SMAD6_ENST00000338426.4_Missense_Mutation_p.R162H	p.R423H	NM_005585.4	NP_005576.3	O43541	SMAD6_HUMAN			4	2299	+			423			MH2.		A9J6M5|O43654|Q15799|Q7Z7L4|Q96E31|Q9UKZ3	Missense_Mutation	SNP	ENST00000288840.5	37	c.1268G>A	CCDS10221.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.236699	0.79800	.	.	ENSG00000137834	ENST00000288840;ENST00000338426	D;D	0.98792	-4.24;-5.14	5.62	5.62	0.85841	SMAD domain-like (1);SMAD/FHA domain (1);SMAD domain, Dwarfin-type (3);	0.000000	0.85682	D	0.000000	D	0.98535	0.9511	L	0.39397	1.21	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.76071	0.976;0.987	D	0.98662	1.0684	10	0.30854	T	0.27	.	19.6501	0.95796	0.0:0.0:1.0:0.0	.	162;423	O43541-2;O43541	.;SMAD6_HUMAN	H	423;162	ENSP00000288840:R423H;ENSP00000345054:R162H	ENSP00000288840:R423H	R	+	2	0	SMAD6	64860704	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	9.685000	0.98661	2.651000	0.90000	0.491000	0.48974	CGC		0.726	SMAD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256953.2	NM_005585		3	12	0	0	0	1	0	3	12					A	67073650	G	A	67073650	3	1	253	1	0	0	0	0	1	0	0	0	14762	1087	38	1	1320	1	SMAD6	15	67073650	Missense_Mutation	SNP	G	TCGA-HC-A8CY-01A-11D-A364-08	1451919	67073650	35457742	32	11871											
KIAA0753	9851	broad.mit.edu	37	chr17	6513363	6513363	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gtttgggggtatccatggtgCcttgcggtctttcacaggct	4	14	14	9	1	2	0	1	0	1	0	3	0	3	0	2	5	2	3	2	5	1	4			TCGA-HC-A8CY-01A-11D-A364-08	TCGA-HC-A8CY-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ff7f1d-b776-4a67-9927-4071226f30f4	2cacf700-84ab-4917-8c2e-0f38205063dd	g.chr17:6513363C>T	ENST00000361413.3	-	9	2021	c.1663G>A	c.(1663-1665)Gca>Aca	p.A555T	KIAA0753_ENST00000572370.1_Missense_Mutation_p.A256T|KIAA0753_ENST00000589033.1_Missense_Mutation_p.A11T|KIAA0753_ENST00000542606.1_Missense_Mutation_p.A256T	NM_014804.2	NP_055619.2	Q2KHM9	K0753_HUMAN	KIAA0753	555						centrosome (GO:0005813)|cytoplasm (GO:0005737)				endometrium(4)|large_intestine(11)|lung(5)|prostate(4)	24				COAD - Colon adenocarcinoma(228;0.157)		ATCCATGGTGCCTTGCGGTCT	0.483																																						ENST00000361413.3																			0				endometrium(4)|large_intestine(11)|lung(5)|prostate(4)	24						c.(1663-1665)Gca>Aca		KIAA0753							172	173	172					17																	6513363		1932	4125	6057	SO:0001583	missense	9851					centrosome		g.chr17:6513363C>T		CCDS42247.1	17p13.1	2014-04-04			ENSG00000198920	ENSG00000198920			29110	protein-coding gene	gene with protein product						24613305	Standard	NM_014804		Approved		uc002gde.4	Q2KHM9	OTTHUMG00000177928	ENST00000361413.3:c.1663G>A	17.37:g.6513363C>T	ENSP00000355250:p.Ala555Thr					KIAA0753_ENST00000589033.1_Missense_Mutation_p.A11T|KIAA0753_ENST00000542606.1_Missense_Mutation_p.A256T|KIAA0753_ENST00000572370.1_Missense_Mutation_p.A256T	p.A555T	NM_014804.2	NP_055619.2	Q2KHM9	K0753_HUMAN		COAD - Colon adenocarcinoma(228;0.157)	9	2021	-			555					A8KA11|B7Z479|O94853|Q05D97|Q2KHN0|Q9UG45	Missense_Mutation	SNP	ENST00000361413.3	37	c.1663G>A	CCDS42247.1	.	.	.	.	.	.	.	.	.	.	C	13.88	2.368625	0.42003	.	.	ENSG00000198920	ENST00000361413;ENST00000542606;ENST00000542826	T;T	0.07327	3.2;3.2	5.14	3.09	0.35607	.	0.258040	0.39687	N	0.001298	T	0.12050	0.0293	M	0.61703	1.905	0.09310	N	1	P	0.48162	0.906	P	0.49192	0.602	T	0.09818	-1.0657	10	0.23891	T	0.37	-9.2309	6.5376	0.22363	0.0:0.7177:0.1853:0.0971	.	555	Q2KHM9	K0753_HUMAN	T	555;256;11	ENSP00000355250:A555T;ENSP00000444634:A256T	ENSP00000355250:A555T	A	-	1	0	KIAA0753	6454087	0.940000	0.31905	0.973000	0.42090	0.445000	0.32107	1.663000	0.37429	1.284000	0.44531	0.650000	0.86243	GCA		0.483	KIAA0753-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439769.3	NM_014804		11	108	0	0	0	1	0	11	108					T	6513363	C	T	6513363	3	4	253	1	0	0	0	0	1	0	0	0	8191	739	26	3	1284	3	KIAA0753	17	6513363	Missense_Mutation	SNP	C	TCGA-HC-A8CY-01A-11D-A364-08		6513363	74681847	33	11872											
MYH13	8735	broad.mit.edu	37	chr17	10222452	10222452	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttctcaatcttggctctgagCgtgtgttccgcttcaatttc	5	17	8	11	2	4	1	2	1	3	0	7	1	5	1	1	1	1	3	1	1	2	5	rs529605906	byFrequency	TCGA-HC-A8CY-01A-11D-A364-08	TCGA-HC-A8CY-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ff7f1d-b776-4a67-9927-4071226f30f4	2cacf700-84ab-4917-8c2e-0f38205063dd	g.chr17:10222452C>T	ENST00000418404.3	-	26	3556	c.3393G>A	c.(3391-3393)acG>acA	p.T1131T	RP11-401O9.3_ENST00000577743.1_RNA|MYH13_ENST00000252172.4_Silent_p.T1131T|RP11-401O9.4_ENST00000609088.1_RNA			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	1131					cellular response to starvation (GO:0009267)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)	extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						TGGCTCTGAGCGTGTGTTCCG	0.557													C|||	3	0.000599042	0	0	5008	,	,		18780	0		0	False		,,,				2504	0.0031					ENST00000418404.3																			0				breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						c.(3391-3393)acG>acA		myosin, heavy chain 13, skeletal muscle																																				SO:0001819	synonymous_variant	8735				muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr17:10222452C>T	AF075248	CCDS45613.1	17p13	2011-09-27	2006-09-29			ENSG00000006788		"Myosins / Myosin superfamily : Class II"	7571	protein-coding gene	gene with protein product	"extraocular muscle myosin heavy chain", "extraocular myosin heavy chain"	603487	"myosin, heavy polypeptide 13, skeletal muscle"			9806854	Standard	NM_003802		Approved	MyHC-eo	uc002gmk.1	Q9UKX3		ENST00000418404.3:c.3393G>A	17.37:g.10222452C>T						MYH13_ENST00000570743.1_Silent_p.T1131T|MYH13_ENST00000252172.4_Silent_p.T1131T	p.T1131T			Q9UKX3	MYH13_HUMAN			26	3556	-			1131					O95252|Q9P0U8	Silent	SNP	ENST00000418404.3	37	c.3393G>A	CCDS45613.1																																																																																				0.557	MYH13-003	KNOWN	alternative_3_UTR|alternative_5_UTR|NMD_exception|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442255.1	NM_003802		33	61	0	0	0	1	0	33	61					T	10222452	C	T	10222452	2	4	253	1	0	0	0	0	0	0	0	1	10032	755	27	1		1	MYH13	17	10222452	Silent	SNP	C	TCGA-HC-A8CY-01A-11D-A364-08	3709089	10222452	70972758	34	11873											
RAD51L3	5892	broad.mit.edu	37	chr17	33430506	33430506	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	acctcccagaagtggggaaaCcaccgcagtgaccgagtcca	12	4	11	14	2	0	2	0	1	0	1	2	4	2	3	6	2	1	1	6	2	2	0			TCGA-HC-A8CY-01A-11D-A364-08	TCGA-HC-A8CY-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ff7f1d-b776-4a67-9927-4071226f30f4	2cacf700-84ab-4917-8c2e-0f38205063dd	g.chr17:33430506C>T	ENST00000345365.6	-	7	889	c.634G>A	c.(634-636)Gtt>Att	p.V212I	RAD51D_ENST00000590016.1_Missense_Mutation_p.V232I|RAD51L3-RFFL_ENST00000593039.1_Missense_Mutation_p.V53I|RAD51D_ENST00000590380.1_5'UTR|RAD51D_ENST00000335858.7_Missense_Mutation_p.V100I|RAD51D_ENST00000360276.3_Missense_Mutation_p.V167I|RAD51D_ENST00000394589.4_Missense_Mutation_p.V212I|RAD51D_ENST00000460118.2_Missense_Mutation_p.V93I	NM_002878.3	NP_002869.3	O75771	RA51D_HUMAN	RAD51 paralog D	212					ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|reciprocal meiotic recombination (GO:0007131)|strand invasion (GO:0042148)|telomere maintenance (GO:0000723)	centrosome (GO:0005813)|chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|Rad51B-Rad51C-Rad51D-XRCC2 complex (GO:0033063)|replication fork (GO:0005657)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|gamma-tubulin binding (GO:0043015)|single-stranded DNA binding (GO:0003697)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|liver(1)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						AGTGGGGAAACCACCGCAGTG	0.582								Direct reversal of damage																														ENST00000345365.6																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|liver(1)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						c.(634-636)Gtt>Att	Direct reversal of damage	RAD51 paralog D							108	91	96					17																	33430506		2203	4300	6503	SO:0001583	missense	5892				DNA repair|reciprocal meiotic recombination	nucleus	ATP binding|DNA binding|DNA-dependent ATPase activity|protein binding	g.chr17:33430506C>T	AF034956	CCDS11287.1, CCDS11288.1, CCDS45646.1	17q11	2014-09-17	2013-07-02	2011-07-01	ENSG00000185379	ENSG00000185379			9823	protein-coding gene	gene with protein product	"recombination repair protein", "DNA repair protein RAD51 homolog 4"	602954	"RAD51 (S. cerevisiae)-like 3", "RAD51-like 3 (S. cerevisiae)", "RAD51 homolog D (S. cerevisiae)"	RAD51L3		9570954	Standard	NM_001142571		Approved	R51H3, Trad, HsTRAD	uc010ctj.2	O75771	OTTHUMG00000132930	ENST00000345365.6:c.634G>A	17.37:g.33430506C>T	ENSP00000338790:p.Val212Ile					RAD51D_ENST00000590016.1_Missense_Mutation_p.V232I|RAD51D_ENST00000394589.4_Missense_Mutation_p.V212I|RAD51D_ENST00000460118.2_Missense_Mutation_p.V93I|RAD51D_ENST00000360276.3_Missense_Mutation_p.V167I|RAD51D_ENST00000590380.1_5'UTR|RAD51L3-RFFL_ENST00000593039.1_Missense_Mutation_p.V53I|RAD51D_ENST00000335858.7_Missense_Mutation_p.V100I	p.V212I	NM_002878.3	NP_002869.3	O75771	RA51D_HUMAN			7	889	-			212					B4DJU7|E1P637|O43537|O60355|O75196|O75847|O75848|O76073|O76085|O94908|Q9UFU5	Missense_Mutation	SNP	ENST00000345365.6	37	c.634G>A	CCDS11287.1	.	.	.	.	.	.	.	.	.	.	C	11.76	1.736156	0.30774	.	.	ENSG00000185379	ENST00000345365;ENST00000394589;ENST00000335858;ENST00000360276;ENST00000345766;ENST00000418935	T;T	0.66099	1.11;-0.19	5.05	4.08	0.47627	DNA recombination/repair protein RecA/RadB, ATP-binding domain (1);ATPase, AAA+ type, core (1);DNA recombination and repair protein Rad51, C-terminal (1);	0.247806	0.41396	N	0.000895	T	0.49150	0.1540	L	0.43152	1.355	0.80722	D	1	B;B;B;B	0.21688	0.059;0.049;0.0;0.002	B;B;B;B	0.24974	0.057;0.013;0.005;0.004	T	0.37911	-0.9685	10	0.20519	T	0.43	-19.3575	6.8472	0.23994	0.0:0.7292:0.1777:0.0931	.	232;100;212;212	B4DJU7;O75771-3;O75771;F8W8E6	.;.;RA51D_HUMAN;.	I	212;232;212;167;100;212	ENSP00000338790:V212I;ENSP00000353417:V167I	ENSP00000338408:V212I	V	-	1	0	RAD51D	30454619	0.976000	0.34144	0.992000	0.48379	0.834000	0.47266	0.875000	0.28079	1.366000	0.46076	0.591000	0.81541	GTT		0.582	RAD51D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256446.1	NM_002878		13	22	0	0	0	1	0	13	22					T	33430506	C	T	33430506	3	4	253	1	0	0	0	0	1	0	0	0	12990	507	18	3	368	3	RAD51L3	17	33430506	Missense_Mutation	SNP	C	TCGA-HC-A8CY-01A-11D-A364-08	23208054	33430506	47764704	35	11874											
ZNF652	22834	broad.mit.edu	37	chr17	47394509	47394509	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	gcggcaacagaggcagctctCctggttctcctttgtgtaac	7	11	11	12	1	2	1	0	0	2	1	4	1	2	1	2	3	3	5	2	3	2	3			TCGA-HC-A8CY-01A-11D-A364-08	TCGA-HC-A8CY-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ff7f1d-b776-4a67-9927-4071226f30f4	2cacf700-84ab-4917-8c2e-0f38205063dd	g.chr17:47394509C>G	ENST00000362063.2	-	2	897	c.579G>C	c.(577-579)agG>agC	p.R193S	ZNF652_ENST00000430262.2_Missense_Mutation_p.R193S	NM_014897.2	NP_055712.1	Q9Y2D9	ZN652_HUMAN	zinc finger protein 652	193					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	20	all_cancers(4;6.81e-14)|Breast(4;4.97e-29)|all_epithelial(4;1.53e-17)		BRCA - Breast invasive adenocarcinoma(1;3.1e-14)|Epithelial(5;2.92e-06)|all cancers(6;3.15e-05)			AGGCAGCTCTCCTGGTTCTCC	0.493																																						ENST00000362063.2																			0				cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	20						c.(577-579)agG>agC		zinc finger protein 652							85	88	87					17																	47394509		2203	4300	6503	SO:0001583	missense	22834				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr17:47394509C>G	AB023141	CCDS32677.1	17q21.32	2013-01-08				ENSG00000198740		"Zinc fingers, C2H2-type"	29147	protein-coding gene	gene with protein product		613907				10231032	Standard	NM_014897		Approved	KIAA0924	uc002iow.3	Q9Y2D9		ENST00000362063.2:c.579G>C	17.37:g.47394509C>G	ENSP00000354686:p.Arg193Ser					ZNF652_ENST00000430262.2_Missense_Mutation_p.R193S	p.R193S	NM_014897.2	NP_055712.1	Q9Y2D9	ZN652_HUMAN	BRCA - Breast invasive adenocarcinoma(1;3.1e-14)|Epithelial(5;2.92e-06)|all cancers(6;3.15e-05)		2	897	-	all_cancers(4;6.81e-14)|Breast(4;4.97e-29)|all_epithelial(4;1.53e-17)		193					A4QPD9|Q5H9Q0	Missense_Mutation	SNP	ENST00000362063.2	37	c.579G>C	CCDS32677.1	.	.	.	.	.	.	.	.	.	.	C	14.52	2.559283	0.45590	.	.	ENSG00000198740	ENST00000362063;ENST00000430262	T;T	0.08807	3.05;3.05	5.22	5.22	0.72569	.	0.146243	0.64402	D	0.000008	T	0.07007	0.0178	L	0.29908	0.895	0.45580	D	0.998521	B	0.33694	0.421	B	0.25140	0.058	T	0.42413	-0.9453	10	0.15952	T	0.53	-14.0516	18.5632	0.91108	0.0:1.0:0.0:0.0	.	193	Q9Y2D9	ZN652_HUMAN	S	193	ENSP00000354686:R193S;ENSP00000416305:R193S	ENSP00000354686:R193S	R	-	3	2	ZNF652	44749508	0.581000	0.26741	0.996000	0.52242	0.971000	0.66376	0.149000	0.16243	2.715000	0.92844	0.655000	0.94253	AGG		0.493	ZNF652-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364524.1	NM_014897		4	85	0	0	0	1	0	4	85					G	47394509	C	G	47394509	3	3	253	1	0	0	0	0	1	0	0	0	18062	854	30	5	1261	5	ZNF652	17	47394509	Missense_Mutation	SNP	C	TCGA-HC-A8CY-01A-11D-A364-08	13964003	47394509	33800701	36	11875											
EPB41L3	23136	broad.mit.edu	37	chr18	5410606	5410606	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtcggctgcggtgtccgtgcGctcactgtcagtctgttgac	3	12	14	12	4	3	1	2	1	1	0	5	1	4	1	1	2	2	3	1	2	0	1	rs143942399		TCGA-HC-A8CY-01A-11D-A364-08	TCGA-HC-A8CY-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ff7f1d-b776-4a67-9927-4071226f30f4	2cacf700-84ab-4917-8c2e-0f38205063dd	g.chr18:5410606G>A	ENST00000341928.2	-	14	2420	c.2080C>T	c.(2080-2082)Cgc>Tgc	p.R694C	EPB41L3_ENST00000342933.3_Missense_Mutation_p.R694C|EPB41L3_ENST00000540638.2_Missense_Mutation_p.R525C|EPB41L3_ENST00000427684.2_5'UTR|EPB41L3_ENST00000542652.2_5'UTR|EPB41L3_ENST00000400111.3_Missense_Mutation_p.R525C|EPB41L3_ENST00000542146.1_5'UTR|EPB41L3_ENST00000544123.1_Missense_Mutation_p.R525C	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	694	Spectrin--actin-binding. {ECO:0000255}.				apoptotic process (GO:0006915)|cortical actin cytoskeleton organization (GO:0030866)|cortical cytoskeleton organization (GO:0030865)|cytoskeletal anchoring at plasma membrane (GO:0007016)|myelin maintenance (GO:0043217)|neuron projection morphogenesis (GO:0048812)|paranodal junction assembly (GO:0030913)|protein localization to juxtaparanode region of axon (GO:0071205)|protein localization to paranode region of axon (GO:0002175)|protein localization to plasma membrane (GO:0072659)|regulation of cell shape (GO:0008360)	axolemma (GO:0030673)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)|juxtaparanode region of axon (GO:0044224)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						GTGTCCGTGCGCTCACTGTCA	0.557																																						ENST00000341928.2																			0				breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						c.(2080-2082)Cgc>Tgc		erythrocyte membrane protein band 4.1-like 3		G	CYS/ARG	0,4406		0,0,2203	100	66	77		2080	5.2	1	18	dbSNP_134	77	1,8599	1.2+/-3.3	0,1,4299	no	missense	EPB41L3	NM_012307.2	180	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	694/1088	5410606	1,13005	2203	4300	6503	SO:0001583	missense	23136				cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity	g.chr18:5410606G>A	AB023204	CCDS11838.1, CCDS62381.1, CCDS62382.1	18p11.32	2006-06-28			ENSG00000082397	ENSG00000082397			3380	protein-coding gene	gene with protein product		605331				9828140, 9892180	Standard	NM_012307		Approved	DAL1, KIAA0987, 4.1B	uc002kmt.1	Q9Y2J2	OTTHUMG00000131562	ENST00000341928.2:c.2080C>T	18.37:g.5410606G>A	ENSP00000343158:p.Arg694Cys					EPB41L3_ENST00000542146.1_5'UTR|EPB41L3_ENST00000427684.2_5'UTR|EPB41L3_ENST00000544123.1_Missense_Mutation_p.R525C|EPB41L3_ENST00000540638.2_Missense_Mutation_p.R525C|EPB41L3_ENST00000400111.3_Missense_Mutation_p.R525C|EPB41L3_ENST00000342933.3_Missense_Mutation_p.R694C|EPB41L3_ENST00000542652.2_5'UTR	p.R694C	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN			14	2420	-			694			Spectrin--actin-binding (Potential).		B7Z4I5|F5GX05|O95713|Q9BRP5	Missense_Mutation	SNP	ENST00000341928.2	37	c.2080C>T	CCDS11838.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.247570	0.80024	0.0	1.16E-4	ENSG00000082397	ENST00000341928;ENST00000540638;ENST00000544123;ENST00000545076;ENST00000342933;ENST00000400111	D;D;D;D	0.83250	-1.66;-1.65;-1.66;-1.7	5.24	5.24	0.73138	.	0.331224	0.28834	N	0.013989	T	0.79131	0.4394	N	0.08118	0	0.80722	D	1	D;D;D;D;D	0.71674	0.998;0.998;0.99;0.994;0.991	P;P;B;P;B	0.56916	0.809;0.549;0.425;0.629;0.425	D	0.83744	0.0205	10	0.87932	D	0	.	14.5358	0.67960	0.0:0.0:0.8529:0.1471	.	525;86;416;525;694	F5GX05;B7Z8M8;A8K968;Q9Y2J2-2;Q9Y2J2	.;.;.;.;E41L3_HUMAN	C	694;416;525;416;694;525	ENSP00000343158:R694C;ENSP00000441174:R525C;ENSP00000341138:R694C;ENSP00000382981:R525C	ENSP00000343158:R694C	R	-	1	0	EPB41L3	5400606	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.223000	0.78033	2.453000	0.82957	0.591000	0.81541	CGC		0.557	EPB41L3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254424.1	NM_012307		14	12	0	0	0	1	0	14	12					A	5410606	G	A	5410606	3	1	253	1	0	0	0	0	1	0	0	0	5154	1087	38	1	1219	1	EPB41L3	18	5410606	Missense_Mutation	SNP	G	TCGA-HC-A8CY-01A-11D-A364-08		5410606	72666642	37	11876											
S1PR4	8698	broad.mit.edu	37	chr19	3179125	3179125	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcgggggcccgcaccttccGtctggcgcccgcccagtggt	2	7	15	17	5	1	0	0	0	1	0	3	0	2	0	5	4	0	1	5	4	0	1	rs202230080	byFrequency	TCGA-HC-A8CY-01A-11D-A364-08	TCGA-HC-A8CY-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ff7f1d-b776-4a67-9927-4071226f30f4	2cacf700-84ab-4917-8c2e-0f38205063dd	g.chr19:3179125G>A	ENST00000246115.3	+	1	390	c.335G>A	c.(334-336)cGt>cAt	p.R112H	S1PR4_ENST00000591346.1_Intron	NM_003775.3	NP_003766.1	O95977	S1PR4_HUMAN	sphingosine-1-phosphate receptor 4	112					activation of phospholipase C activity (GO:0007202)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|positive regulation of cytosolic calcium ion concentration (GO:0007204)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|lipid binding (GO:0008289)|sphingosine-1-phosphate receptor activity (GO:0038036)			breast(1)|kidney(2)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	13						CGCACCTTCCGTCTGGCGCCC	0.677													G|||	4	0.000798722	0	0	5008	,	,		14277	0.003		0	False		,,,				2504	0.001				GBM(82;318 1638 33279 49708)	ENST00000246115.3																			0				breast(1)|kidney(2)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	13						c.(334-336)cGt>cAt		sphingosine-1-phosphate receptor 4							25	26	25					19																	3179125		2180	4269	6449	SO:0001583	missense	8698				activation of phospholipase C activity|elevation of cytosolic calcium ion concentration|immune response	integral to plasma membrane	lipid binding|lysosphingolipid and lysophosphatidic acid receptor activity	g.chr19:3179125G>A	AJ000479	CCDS12105.1	19p13.3	2012-08-08	2008-04-30	2008-04-30		ENSG00000125910		"GPCR / Class A : Lysophospholipid receptors : Sphingosine 1-phosphate"	3170	protein-coding gene	gene with protein product		603751	"endothelial differentiation, G-protein-coupled receptor 6", "endothelial differentiation, lysophosphatidic acid G-protein-coupled receptor, 6"	EDG6		9790765	Standard	NM_003775		Approved		uc002lxg.3	O95977		ENST00000246115.3:c.335G>A	19.37:g.3179125G>A	ENSP00000246115:p.Arg112His					S1PR4_ENST00000591346.1_Intron	p.R112H	NM_003775.3	NP_003766.1	O95977	S1PR4_HUMAN			1	390	+			112					D6W612	Missense_Mutation	SNP	ENST00000246115.3	37	c.335G>A	CCDS12105.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	12.78	2.041434	0.35989	.	.	ENSG00000125910	ENST00000246115	T	0.37235	1.21	3.7	-5.34	0.02705	GPCR, rhodopsin-like superfamily (1);	0.541619	0.18609	N	0.136208	T	0.22322	0.0538	L	0.51914	1.62	0.31344	N	0.683345	B	0.14012	0.009	B	0.10450	0.005	T	0.08371	-1.0725	10	0.27785	T	0.31	.	4.826	0.13416	0.4203:0.0:0.4437:0.1361	.	112	O95977	S1PR4_HUMAN	H	112	ENSP00000246115:R112H	ENSP00000246115:R112H	R	+	2	0	S1PR4	3130125	0.002000	0.14202	0.266000	0.24541	0.884000	0.51177	-0.263000	0.08670	-1.259000	0.02468	0.462000	0.41574	CGT		0.677	S1PR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452517.1	NM_003775		29	32	0	0	0	1	0	29	32					A	3179125	G	A	3179125	3	1	253	1	0	0	0	0	1	0	0	0	13796	1145	40	1	337	1	S1PR4	19	3179125	Missense_Mutation	SNP	G	TCGA-HC-A8CY-01A-11D-A364-08		3179125	55949858	38	11877											
MUC16	94025	broad.mit.edu	37	chr19	9046680	9046680	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ctctggttcaccaggagaagGagtcaaagttggaatagctg	12	9	13	7	0	3	1	2	0	1	1	3	4	3	3	1	4	1	3	1	4	4	3			TCGA-HC-A8CY-01A-11D-A364-08	TCGA-HC-A8CY-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ff7f1d-b776-4a67-9927-4071226f30f4	2cacf700-84ab-4917-8c2e-0f38205063dd	g.chr19:9046680G>A	ENST00000397910.4	-	5	35154	c.34951C>T	c.(34951-34953)Cct>Tct	p.P11651S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	11653	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CCAGGAGAAGGAGTCAAAGTT	0.512																																						ENST00000397910.4																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(34951-34953)Cct>Tct		mucin 16, cell surface associated							154	151	152					19																	9046680		2085	4217	6302	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9046680G>A	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.34951C>T	19.37:g.9046680G>A	ENSP00000381008:p.Pro11651Ser						p.P11651S	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			5	35154	-			11653			Thr-rich.		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.34951C>T	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	g	3.031	-0.199657	0.06219	.	.	ENSG00000181143	ENST00000397910	T	0.02015	4.5	3.0	-5.99	0.02213	.	.	.	.	.	T	0.01222	0.0040	N	0.08118	0	.	.	.	B	0.22080	0.064	B	0.25506	0.061	T	0.48328	-0.9045	8	0.87932	D	0	.	2.9455	0.05845	0.1047:0.1367:0.4188:0.3398	.	11651	B5ME49	.	S	11651	ENSP00000381008:P11651S	ENSP00000381008:P11651S	P	-	1	0	MUC16	8907680	0.000000	0.05858	0.000000	0.03702	0.024000	0.10985	-3.605000	0.00417	-2.538000	0.00487	-0.743000	0.03520	CCT		0.512	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		9	116	0	0	0	1	0	9	116					A	9046680	G	A	9046680	3	1	253	1	0	0	0	0	1	0	0	0	9973	1174	41	3	8892	3	MUC16	19	9046680	Missense_Mutation	SNP	G	TCGA-HC-A8CY-01A-11D-A364-08	5867555	9046680	50082303	39	11878											
ZNF536	9745	broad.mit.edu	37	chr19	30935474	30935474	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcccagggccagggccccaaCggcggtggcgagcagtcggc	6	2	18	15	4	0	0	0	0	0	0	1	1	0	0	4	6	2	1	4	6	1	0			TCGA-HC-A8CY-01A-11D-A364-08	TCGA-HC-A8CY-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ff7f1d-b776-4a67-9927-4071226f30f4	2cacf700-84ab-4917-8c2e-0f38205063dd	g.chr19:30935474C>T	ENST00000355537.3	+	2	1152	c.1005C>T	c.(1003-1005)aaC>aaT	p.N335N		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	335					negative regulation of neuron differentiation (GO:0045665)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|retinoic acid-responsive element binding (GO:0044323)			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					AGGGCCCCAACGGCGGTGGCG	0.657																																						ENST00000355537.3																			0				NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182						c.(1003-1005)aaC>aaT		zinc finger protein 536							84	96	92					19																	30935474		2203	4298	6501	SO:0001819	synonymous_variant	9745				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	g.chr19:30935474C>T		CCDS32984.1	19q13.11	2013-01-08				ENSG00000198597		"Zinc fingers, C2H2-type"	29025	protein-coding gene	gene with protein product						9205841	Standard	XM_005259445		Approved	KIAA0390	uc002nsu.1	O15090		ENST00000355537.3:c.1005C>T	19.37:g.30935474C>T							p.N335N	NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN			2	1152	+	Esophageal squamous(110;0.0834)		335					A2RU18	Silent	SNP	ENST00000355537.3	37	c.1005C>T	CCDS32984.1																																																																																				0.657	ZNF536-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459667.2	NM_014717		6	137	0	0	0	1	0	6	137					T	30935474	C	T	30935474	2	4	253	1	0	0	0	0	0	0	0	1	17971	535	19	1		1	ZNF536	19	30935474	Silent	SNP	C	TCGA-HC-A8CY-01A-11D-A364-08	21888794	30935474	28193509	40	11879											
EPN1	29924	broad.mit.edu	37	chr19	56206217	56206217	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcagccacaccaactcccAcgccccccacccggaagacg	10	2	7	22	3	0	1	0	0	0	1	1	2	1	2	7	1	3	1	7	1	2	0			TCGA-HC-A8CY-01A-11D-A364-08	TCGA-HC-A8CY-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ff7f1d-b776-4a67-9927-4071226f30f4	2cacf700-84ab-4917-8c2e-0f38205063dd	g.chr19:56206217A>G	ENST00000270460.6	+	10	1701	c.1390A>G	c.(1390-1392)Acg>Gcg	p.T464A	AC010525.4_ENST00000585559.1_RNA|AC010525.6_ENST00000587937.1_lincRNA|AC010525.7_ENST00000589698.1_lincRNA|EPN1_ENST00000411543.2_Missense_Mutation_p.T550A|EPN1_ENST00000085079.7_Missense_Mutation_p.T438A	NM_001130072.1	NP_001123544.1	Q9Y6I3	EPN1_HUMAN	epsin 1	464	Ala/Gly/Pro-rich.				embryonic organ development (GO:0048568)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|female pregnancy (GO:0007565)|in utero embryonic development (GO:0001701)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|Notch signaling pathway (GO:0007219)	coated pit (GO:0005905)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)			endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|skin(1)	17		Colorectal(82;0.00244)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.112)		ACCAACTCCCACGCCCCCCAC	0.716																																						ENST00000411543.2																			0				endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|skin(1)	17						c.(1648-1650)Acg>Gcg		epsin 1							17	28	25					19																	56206217		2053	4179	6232	SO:0001583	missense	29924				endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	coated pit|cytoplasm|nucleus|plasma membrane	lipid binding	g.chr19:56206217A>G	AF073727	CCDS46198.1, CCDS46199.1, CCDS46200.1	19q13.42	2014-08-12			ENSG00000063245	ENSG00000063245			21604	protein-coding gene	gene with protein product		607262				9723620, 10557078	Standard	NM_001130072		Approved		uc002qlx.3	Q9Y6I3	OTTHUMG00000180911	ENST00000270460.6:c.1390A>G	19.37:g.56206217A>G	ENSP00000270460:p.Thr464Ala					EPN1_ENST00000085079.7_Missense_Mutation_p.T438A|EPN1_ENST00000270460.6_Missense_Mutation_p.T464A	p.T550A	NM_001130071.1	NP_001123543.1	Q9Y6I3	EPN1_HUMAN		GBM - Glioblastoma multiforme(193;0.112)	10	2195	+		Colorectal(82;0.00244)|Ovarian(87;0.133)	464			3 X 3 AA repeats of N-P-F.|Ala/Gly/Pro-rich.		Q86ST3|Q9HA18	Missense_Mutation	SNP	ENST00000270460.6	37	c.1648A>G	CCDS46199.1	.	.	.	.	.	.	.	.	.	.	A	3.436	-0.115166	0.06881	.	.	ENSG00000063245	ENST00000270460;ENST00000085079;ENST00000544375;ENST00000411543	T;T;T	0.15139	2.49;2.46;2.45	4.57	3.54	0.40534	.	0.240857	0.33591	N	0.004744	T	0.07052	0.0179	N	0.05124	-0.11	0.51012	D	0.999903	B;B;B;B	0.06786	0.0;0.001;0.0;0.0	B;B;B;B	0.13407	0.0;0.009;0.0;0.0	T	0.20472	-1.0274	10	0.08599	T	0.76	-7.8821	9.3784	0.38297	0.8054:0.1946:0.0:0.0	.	424;550;464;438	B4DU91;Q9Y6I3-1;Q9Y6I3;Q9Y6I3-3	.;.;EPN1_HUMAN;.	A	464;438;424;550	ENSP00000270460:T464A;ENSP00000085079:T438A;ENSP00000406209:T550A	ENSP00000085079:T438A	T	+	1	0	EPN1	60898029	0.318000	0.24598	0.531000	0.27976	0.242000	0.25591	1.122000	0.31295	0.889000	0.36185	0.459000	0.35465	ACG		0.716	EPN1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453610.1	NM_013333		10	11	0	0	0	1	0	10	11					G	56206217	A	G	56206217	3	3	253	1	0	0	0	0	1	0	0	0	5185	159	6	4	1765	4	EPN1	19	56206217	Missense_Mutation	SNP	A	TCGA-HC-A8CY-01A-11D-A364-08	25270743	56206217	2922766	41	11880											
VAPB	9217	broad.mit.edu	37	chr20	56993284	56993284	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggtcccttcaccgatgttGtcaccaccaacctaaagctt	10	10	6	15	1	2	0	2	0	0	0	3	1	3	0	5	1	2	2	5	1	3	4			TCGA-HC-A8CY-01A-11D-A364-08	TCGA-HC-A8CY-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ff7f1d-b776-4a67-9927-4071226f30f4	2cacf700-84ab-4917-8c2e-0f38205063dd	g.chr20:56993284G>A	ENST00000475243.1	+	2	414	c.76G>A	c.(76-78)Gtc>Atc	p.V26I	VAPB_ENST00000265619.2_3'UTR|VAPB_ENST00000395802.3_Missense_Mutation_p.V26I	NM_004738.4	NP_004729.1	O95292	VAPB_HUMAN	VAMP (vesicle-associated membrane protein)-associated protein B and C	26	MSP. {ECO:0000255|PROSITE- ProRule:PRU00132}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cell death (GO:0008219)|cellular calcium ion homeostasis (GO:0006874)|endoplasmic reticulum unfolded protein response (GO:0030968)|modulation by virus of host morphology or physiology (GO:0019048)|positive regulation of viral genome replication (GO:0045070)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	beta-tubulin binding (GO:0048487)|enzyme binding (GO:0019899)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|structural molecule activity (GO:0005198)			kidney(2)|lung(3)|prostate(1)	6	Lung NSC(12;0.000615)|all_lung(29;0.00186)		BRCA - Breast invasive adenocarcinoma(13;6.2e-12)|Epithelial(14;3.7e-08)|all cancers(14;3.88e-07)			CACCGATGTTGTCACCACCAA	0.473																																						ENST00000475243.1																			0				kidney(2)|lung(3)|prostate(1)	6						c.(76-78)Gtc>Atc		VAMP (vesicle-associated membrane protein)-associated protein B and C							158	141	146					20																	56993284		2203	4300	6503	SO:0001583	missense	9217				cell death|endoplasmic reticulum unfolded protein response|positive regulation of viral genome replication|sphingolipid metabolic process|virus-host interaction	endoplasmic reticulum membrane|Golgi apparatus|integral to membrane	beta-tubulin binding|enzyme binding|protein heterodimerization activity|protein homodimerization activity|structural molecule activity	g.chr20:56993284G>A	AF086628	CCDS33498.1, CCDS56198.1	20q13	2014-09-17			ENSG00000124164	ENSG00000124164			12649	protein-coding gene	gene with protein product		605704				9920726	Standard	NM_004738		Approved	VAP-B, VAP-C, ALS8	uc002xza.3	O95292	OTTHUMG00000032840	ENST00000475243.1:c.76G>A	20.37:g.56993284G>A	ENSP00000417175:p.Val26Ile					VAPB_ENST00000265619.2_3'UTR|VAPB_ENST00000395802.3_Missense_Mutation_p.V26I	p.V26I	NM_004738.4	NP_004729.1	O95292	VAPB_HUMAN	BRCA - Breast invasive adenocarcinoma(13;6.2e-12)|Epithelial(14;3.7e-08)|all cancers(14;3.88e-07)		2	414	+	Lung NSC(12;0.000615)|all_lung(29;0.00186)		26			MSP.		A2A2F2|O95293|Q9P0H0	Missense_Mutation	SNP	ENST00000475243.1	37	c.76G>A	CCDS33498.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.009837	0.75046	.	.	ENSG00000124164	ENST00000475243;ENST00000395802	T;T	0.62941	-0.01;-0.01	6.16	6.16	0.99307	PapD-like (2);	0.000000	0.85682	D	0.000000	T	0.77572	0.4150	L	0.52823	1.66	0.80722	D	1	D;B	0.67145	0.996;0.044	D;B	0.77557	0.99;0.031	T	0.75013	-0.3467	10	0.52906	T	0.07	.	20.8598	0.99761	0.0:0.0:1.0:0.0	.	26;26	O95292-2;O95292	.;VAPB_HUMAN	I	26	ENSP00000417175:V26I;ENSP00000379147:V26I	ENSP00000379147:V26I	V	+	1	0	VAPB	56426690	1.000000	0.71417	0.998000	0.56505	0.992000	0.81027	9.813000	0.99286	2.937000	0.99478	0.650000	0.86243	GTC		0.473	VAPB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079875.2			4	116	0	0	0	1	0	4	116					A	56993284	G	A	56993284	3	1	253	1	0	0	0	0	1	0	0	0	17119	1377	48	3	82	3	VAPB	20	56993284	Missense_Mutation	SNP	G	TCGA-HC-A8CY-01A-11D-A364-08		56993284	6032236	42	11881											
AR	367	broad.mit.edu	37	chrX	66765161	66765161	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgccagtttgctgctgctgcAgcagcagcagcagcagcagc	8	6	13	14	1	0	0	0	0	0	0	0	0	0	0	1	0	11	11	1	0	0	1	rs200185441		TCGA-HC-A8CY-01A-11D-A364-08	TCGA-HC-A8CY-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ff7f1d-b776-4a67-9927-4071226f30f4	2cacf700-84ab-4917-8c2e-0f38205063dd	g.chrX:66765161A>T	ENST00000374690.3	+	1	697	c.173A>T	c.(172-174)cAg>cTg	p.Q58L	AR_ENST00000396044.3_Missense_Mutation_p.Q58L|AR_ENST00000504326.1_Missense_Mutation_p.Q58L|AR_ENST00000513847.1_3'UTR	NM_000044.3	NP_000035.2	P10275	ANDR_HUMAN	androgen receptor	58	Gln-rich.|Modulating.|Poly-Gln.				androgen receptor signaling pathway (GO:0030521)|cell death (GO:0008219)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of integrin biosynthetic process (GO:0045720)|positive regulation of cell proliferation (GO:0008284)|positive regulation of integrin biosynthetic process (GO:0045726)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of phosphorylation (GO:0042327)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland development (GO:0030850)|protein oligomerization (GO:0051259)|regulation of establishment of protein localization to plasma membrane (GO:0090003)|sex differentiation (GO:0007548)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transport (GO:0006810)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	androgen binding (GO:0005497)|androgen receptor activity (GO:0004882)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein dimerization activity (GO:0046983)|receptor binding (GO:0005102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.Q58L(2)		breast(4)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|prostate(11)|stomach(2)|upper_aerodigestive_tract(3)	67	all_cancers(1;0.173)|Prostate(1;2.27e-16)|all_epithelial(1;0.102)	all_lung(315;1.3e-11)			Bicalutamide(DB01128)|Cyproterone acetate(DB04839)|Danazol(DB01406)|Drospirenone(DB01395)|Drostanolone(DB00858)|Enzalutamide(DB08899)|Fludrocortisone(DB00687)|Fluoxymesterone(DB01185)|Flutamide(DB00499)|Ketoconazole(DB01026)|Levonorgestrel(DB00367)|Methyltestosterone(DB06710)|Nandrolone decanoate(DB08804)|Nandrolone phenpropionate(DB00984)|Nilutamide(DB00665)|Oxandrolone(DB00621)|Spironolactone(DB00421)|Testosterone Propionate(DB01420)|Testosterone(DB00624)	CTGCTGCTgcagcagcagcag	0.667									Androgen Insensitivity Syndrome																													ENST00000374690.3																			2	Substitution - Missense(2)	p.Q58L(2)	lung(1)|endometrium(1)	breast(4)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|prostate(11)|stomach(2)|upper_aerodigestive_tract(3)	67	GRCh37	CM033749	AR	M	rs5902610	c.(172-174)cAg>cTg		androgen receptor	Bicalutamide(DB01128)|Cyproterone(DB04839)|Dromostanolone(DB00858)|Finasteride(DB01216)|Fluoxymesterone(DB01185)|Flutamide(DB00499)|Nandrolone(DB00984)|Nilutamide(DB00665)|Oxandrolone(DB00621)|Testosterone(DB00624)						8	11	10					X																	66765161		2116	4153	6269	SO:0001583	missense	367	Androgen Insensitivity Syndrome	Familial Cancer Database	CAIS, Testicular Feminisation, AIS, Morris syndrome; incl. Reifenstein Syndrome	cell death|cell growth|cell proliferation|cell-cell signaling|negative regulation of apoptosis|negative regulation of integrin biosynthetic process|positive regulation of cell proliferation|positive regulation of integrin biosynthetic process|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|regulation of establishment of protein localization in plasma membrane|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transport	cytoplasm|nuclear chromatin|nucleoplasm	androgen binding|androgen receptor activity|beta-catenin binding|enzyme binding|ligand-regulated transcription factor activity|protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding	g.chrX:66765161A>T	M20132	CCDS14387.1, CCDS43965.1	Xq12	2013-01-16	2008-08-07		ENSG00000169083	ENSG00000169083		"Nuclear hormone receptors"	644	protein-coding gene	gene with protein product	"testicular feminization", "Kennedy disease"	313700	"dihydrotestosterone receptor", "spinal and bulbar muscular atrophy"	DHTR, SBMA		3353726, 3377788	Standard	NM_000044		Approved	AIS, NR3C4, SMAX1, HUMARA	uc004dwu.2	P10275	OTTHUMG00000021740	ENST00000374690.3:c.173A>T	X.37:g.66765161A>T	ENSP00000363822:p.Gln58Leu					AR_ENST00000504326.1_Missense_Mutation_p.Q58L|AR_ENST00000396044.3_Missense_Mutation_p.Q58L|AR_ENST00000513847.1_3'UTR	p.Q58L	NM_000044.3	NP_000035.2	P10275	ANDR_HUMAN			1	697	+	all_cancers(1;0.173)|Prostate(1;2.27e-16)|all_epithelial(1;0.102)	all_lung(315;1.3e-11)	58			Gln-rich.|Modulating.|Poly-Gln.		A2RUN2|B1AKD7|Q9UD95	Missense_Mutation	SNP	ENST00000374690.3	37	c.173A>T	CCDS14387.1	.	.	.	.	.	.	.	.	.	.	a	11.20	1.568808	0.28003	.	.	ENSG00000169083	ENST00000374690;ENST00000504326;ENST00000396044;ENST00000538891	T;T;T	0.69040	-0.37;-0.37;-0.37	.	.	.	.	0.157519	0.30235	N	0.010084	T	0.46541	0.1398	N	0.19112	0.55	0.09310	N	0.999999	B;B	0.34313	0.448;0.448	B;B	0.36534	0.227;0.227	T	0.39800	-0.9596	8	0.62326	D	0.03	.	.	.	.	.	58;58	E7EVX6;D3YPQ2	.;.	L	58	ENSP00000363822:Q58L;ENSP00000421155:Q58L;ENSP00000379359:Q58L	ENSP00000363822:Q58L	Q	+	2	0	AR	66681886	0.997000	0.39634	0.872000	0.34217	0.495000	0.33615	1.386000	0.34419	0.000000	0.14550	0.000000	0.15137	CAG		0.667	AR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057007.1	NM_000044		3	14	0	0	0	1	0	3	14					T	66765161	A	T	66765161	3	4	253	1	0	0	0	0	1	0	0	0	836	188	7	5	175	5	AR	23	66765161	Missense_Mutation	SNP	A	TCGA-HC-A8CY-01A-11D-A364-08		66765161	88505399	43	11882											
FMR1NB	158521	broad.mit.edu	37	chrX	147084823	147084824	+	Frame_Shift_Ins	INS	-	-	T																															gcattggaagctttgctgaaINSttttttctttccaacaagta																										TCGA-HC-A8CY-01A-11D-A364-08	TCGA-HC-A8CY-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ff7f1d-b776-4a67-9927-4071226f30f4	2cacf700-84ab-4917-8c2e-0f38205063dd	g.chrX:147084823_147084824insT	ENST00000370467.3	+	2	454_455	c.380_381insT	c.(379-384)aattttfs	p.NF127fs		NM_152578.2	NP_689791.1	Q8N0W7	FMR1N_HUMAN	fragile X mental retardation 1 neighbor	127	P-type.					integral component of membrane (GO:0016021)|nucleolus (GO:0005730)		p.F130fs*17(1)		breast(2)|cervix(1)|endometrium(3)|large_intestine(7)|lung(10)|ovary(1)|skin(1)	25	Acute lymphoblastic leukemia(192;6.56e-05)					GCTTTGCTGAATTTTTTCTTTC	0.371																																						ENST00000370467.3																			1	Insertion - Frameshift(1)	p.F130fs*17(1)	lung(1)	breast(2)|cervix(1)|endometrium(3)|large_intestine(7)|lung(10)|ovary(1)|skin(1)	25						c.(379-381)attfs		fragile X mental retardation 1 neighbor																																				SO:0001589	frameshift_variant	158521					integral to membrane		g.chrX:147084823_147084824insT		CCDS14683.1	Xq28	2009-03-25			ENSG00000176988	ENSG00000176988			26372	protein-coding gene	gene with protein product	"cancer/testis antigen 37"					12601173	Standard	NM_152578		Approved	FLJ25736, NY-SAR-35, CT37	uc004fcm.3	Q8N0W7	OTTHUMG00000022608	ENST00000370467.3:c.386dupT	X.37:g.147084829_147084829dupT	ENSP00000359498:p.Asn127fs						p.I127fs	NM_152578.2	NP_689791.1	Q8N0W7	FMR1N_HUMAN			2	454_455	+	Acute lymphoblastic leukemia(192;6.56e-05)		127			P-type.		D3DWT3	Frame_Shift_Ins	INS	ENST00000370467.3	37	c.380_381insT	CCDS14683.1																																																																																				0.371	FMR1NB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058667.1	NM_152578		8	53						8	53	---	---	---	---	T	147084824	-	T	147084823	7	5	253	1	0	1	1	0	0	0	0	0	5961	101	4	0	386	0	FMR1NB	23	147084823	Frame_Shift_Ins	INS	-	TCGA-HC-A8CY-01A-11D-A364-08	80319662	147084823	8185737	44	11883											
WDR78	79819	broad.mit.edu	37	chr1	67299306	67299306	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	acacattccaggagcctgtcGagatatcaaagcttcatctt	12	11	7	11	1	3	1	2	0	1	1	5	3	4	2	2	1	2	1	2	1	2	4			TCGA-HC-A8D0-01A-11D-A364-08	TCGA-HC-A8D0-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d04bc84-6f8d-4ff3-8044-44e342859531	15291a8d-12a8-4092-914c-995dbb9b607b	g.chr1:67299306G>A	ENST00000371026.3	-	13	2030	c.1975C>T	c.(1975-1977)Cga>Tga	p.R659*	WDR78_ENST00000431318.1_Nonsense_Mutation_p.R405*	NM_024763.4	NP_079039.4	Q5VTH9	WDR78_HUMAN	WD repeat domain 78	659					hematopoietic progenitor cell differentiation (GO:0002244)					NS(1)|endometrium(3)|kidney(6)|large_intestine(6)|lung(10)|ovary(3)|skin(3)	32						GGAGCCTGTCGAGATATCAAA	0.338																																						ENST00000371026.3																			0				NS(1)|endometrium(3)|kidney(6)|large_intestine(6)|lung(10)|ovary(3)|skin(3)	32						c.(1975-1977)Cga>Tga		WD repeat domain 78							157	160	159					1																	67299306		2203	4300	6503	SO:0001587	stop_gained	79819							g.chr1:67299306G>A	BX648840	CCDS635.1, CCDS44157.1	1p31.2	2014-02-21	2013-02-19	2013-02-19	ENSG00000152763	ENSG00000152763		"WD repeat domain containing"	26252	protein-coding gene	gene with protein product						21953912	Standard	NM_207014		Approved	DIC4, FLJ23129	uc001dcx.3	Q5VTH9	OTTHUMG00000009165	ENST00000371026.3:c.1975C>T	1.37:g.67299306G>A	ENSP00000360065:p.Arg659*					WDR78_ENST00000431318.1_Nonsense_Mutation_p.R405*	p.R659*	NM_024763.4	NP_079039.4	Q5VTH9	WDR78_HUMAN			13	2030	-			659					A8K9W5|B5MDT3|H7BY80|Q5VTI0|Q8N5G5|Q9H5R9|Q9UF44	Nonsense_Mutation	SNP	ENST00000371026.3	37	c.1975C>T	CCDS635.1	.	.	.	.	.	.	.	.	.	.	G	43	10.049630	0.99325	.	.	ENSG00000152763	ENST00000371026;ENST00000431318;ENST00000464352	.	.	.	5.84	4.92	0.64577	.	0.409238	0.25968	N	0.027153	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-14.3877	16.4721	0.84114	0.0:0.0:0.8678:0.1322	.	.	.	.	X	659;405;425	.	ENSP00000360065:R659X	R	-	1	2	WDR78	67071894	0.925000	0.31364	0.998000	0.56505	0.185000	0.23345	2.922000	0.48860	1.472000	0.48140	-0.152000	0.13540	CGA		0.338	WDR78-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025404.1	NM_024763		4	41	0	0	0	1	0	4	41					A	67299306	G	A	67299306	4	1	254	1	0	0	0	0	0	1	0	0	17325	1066	37	2	591	2	WDR78	1	67299306	Nonsense_Mutation	SNP	G	TCGA-HC-A8D0-01A-11D-A364-08		67299306	181951315	1	11884											
IGSF3	3321	broad.mit.edu	37	chr1	117150673	117150673	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acccggcagttgtatttcccGctatcttcctggcggaggtg	5	12	12	12	3	1	0	0	0	1	0	3	1	3	1	3	4	0	4	3	4	2	5	rs370839007		TCGA-HC-A8D0-01A-11D-A364-08	TCGA-HC-A8D0-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d04bc84-6f8d-4ff3-8044-44e342859531	15291a8d-12a8-4092-914c-995dbb9b607b	g.chr1:117150673G>A	ENST00000369486.3	-	5	1878	c.1113C>T	c.(1111-1113)agC>agT	p.S371S	IGSF3_ENST00000369483.1_Silent_p.S371S|IGSF3_ENST00000318837.6_Silent_p.S371S	NM_001007237.1	NP_001007238.1	O75054	IGSF3_HUMAN	immunoglobulin superfamily, member 3	371	Ig-like C2-type 3.				lacrimal gland development (GO:0032808)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	62	Lung SC(450;0.225)	all_cancers(81;1.24e-06)|all_epithelial(167;4.85e-07)|all_lung(203;1.66e-06)|Lung NSC(69;1.11e-05)		Lung(183;0.0142)|Colorectal(144;0.0929)|LUSC - Lung squamous cell carcinoma(189;0.108)|COAD - Colon adenocarcinoma(174;0.139)|all cancers(265;0.159)|Epithelial(280;0.166)		TGTATTTCCCGCTATCTTCCT	0.537																																						ENST00000369486.3																			0				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	62						c.(1111-1113)agC>agT		immunoglobulin superfamily, member 3		G	,	0,4406		0,0,2203	61	64	63		1113,1113	-5.1	0.2	1		63	1,8593	2.2+/-6.3	0,1,4296	no	coding-synonymous,coding-synonymous	IGSF3	NM_001007237.1,NM_001542.2	,	0,1,6499	AA,AG,GG		0.0116,0.0,0.0077	,	371/1195,371/1215	117150673	1,12999	2203	4297	6500	SO:0001819	synonymous_variant	3321					integral to membrane		g.chr1:117150673G>A	AF031174	CCDS30813.1, CCDS30814.1	1p13	2013-01-29			ENSG00000143061	ENSG00000143061		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5950	protein-coding gene	gene with protein product		603491				9790749	Standard	NM_001007237		Approved	V8, EWI-3, MGC117164	uc031pnr.1	O75054	OTTHUMG00000022751	ENST00000369486.3:c.1113C>T	1.37:g.117150673G>A						IGSF3_ENST00000369483.1_Silent_p.S371S|IGSF3_ENST00000318837.6_Silent_p.S371S	p.S371S	NM_001007237.1	NP_001007238.1	O75054	IGSF3_HUMAN		Lung(183;0.0142)|Colorectal(144;0.0929)|LUSC - Lung squamous cell carcinoma(189;0.108)|COAD - Colon adenocarcinoma(174;0.139)|all cancers(265;0.159)|Epithelial(280;0.166)	5	1878	-	Lung SC(450;0.225)	all_cancers(81;1.24e-06)|all_epithelial(167;4.85e-07)|all_lung(203;1.66e-06)|Lung NSC(69;1.11e-05)	371			Ig-like C2-type 3.		A6NJZ6|A6NMC7	Silent	SNP	ENST00000369486.3	37	c.1113C>T	CCDS30813.1																																																																																				0.537	IGSF3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000059040.1	NM_001542		19	93	0	0	0	1	0	19	93					A	117150673	G	A	117150673	2	1	254	1	0	0	0	0	0	0	0	1	7601	1078	38	1		1	IGSF3	1	117150673	Silent	SNP	G	TCGA-HC-A8D0-01A-11D-A364-08	49851367	117150673	132099948	2	11885											
CACNA1S	779	broad.mit.edu	37	chr1	201046206	201046206	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagcagggaggcgatggagcGgatggagttgagcagggatg	10	5	21	5	2	0	1	0	1	0	0	0	7	0	6	0	6	3	3	0	6	0	1			TCGA-HC-A8D0-01A-11D-A364-08	TCGA-HC-A8D0-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d04bc84-6f8d-4ff3-8044-44e342859531	15291a8d-12a8-4092-914c-995dbb9b607b	g.chr1:201046206G>A	ENST00000362061.3	-	12	1895	c.1669C>T	c.(1669-1671)Cgc>Tgc	p.R557C	CACNA1S_ENST00000367338.3_Missense_Mutation_p.R557C	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	557					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport (GO:0006816)|endoplasmic reticulum organization (GO:0007029)|extraocular skeletal muscle development (GO:0002074)|membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|myoblast fusion (GO:0007520)|neuromuscular junction development (GO:0007528)|skeletal muscle adaptation (GO:0043501)|skeletal muscle fiber development (GO:0048741)|skeletal system development (GO:0001501)|striated muscle contraction (GO:0006941)	cytoplasm (GO:0005737)|I band (GO:0031674)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	GCGATGGAGCGGATGGAGTTG	0.582																																						ENST00000362061.3																			0				NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102						c.(1669-1671)Cgc>Tgc		calcium channel, voltage-dependent, L type, alpha 1S subunit	Magnesium Sulfate(DB00653)|Verapamil(DB00661)						117	108	111					1																	201046206		2203	4300	6503	SO:0001583	missense	779				axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity	g.chr1:201046206G>A	L33798	CCDS1407.1	1q32	2012-03-07			ENSG00000081248	ENSG00000081248		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1397	protein-coding gene	gene with protein product		114208		HOKPP, MHS5, CACNL1A3		7916735, 16382099	Standard	NM_000069		Approved	Cav1.1, hypoPP	uc001gvv.3	Q13698	OTTHUMG00000035784	ENST00000362061.3:c.1669C>T	1.37:g.201046206G>A	ENSP00000355192:p.Arg557Cys					CACNA1S_ENST00000367338.3_Missense_Mutation_p.R557C	p.R557C	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN			12	1895	-			557					A4IF51|B1ALM2|Q12896|Q13934	Missense_Mutation	SNP	ENST00000362061.3	37	c.1669C>T	CCDS1407.1	.	.	.	.	.	.	.	.	.	.	G	27.1	4.800397	0.90538	.	.	ENSG00000081248	ENST00000362061;ENST00000367338	D;D	0.97710	-4.5;-4.5	4.45	4.45	0.53987	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.98845	0.9610	M	0.88181	2.935	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	D	0.99818	1.1045	10	0.87932	D	0	.	17.4435	0.87572	0.0:0.0:1.0:0.0	.	557	Q13698	CAC1S_HUMAN	C	557	ENSP00000355192:R557C;ENSP00000356307:R557C	ENSP00000355192:R557C	R	-	1	0	CACNA1S	199312829	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	6.665000	0.74442	2.189000	0.69895	0.549000	0.68633	CGC		0.582	CACNA1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087049.1	NM_000069		3	47	0	0	0	1	0	3	47					A	201046206	G	A	201046206	3	1	254	1	0	0	0	0	1	0	0	0	2547	1116	39	2	4084	2	CACNA1S	1	201046206	Missense_Mutation	SNP	G	TCGA-HC-A8D0-01A-11D-A364-08	83895533	201046206	48204415	3	11886											
KCNH7	90134	broad.mit.edu	37	chr2	163291772	163291772	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtgttaggagacacattcccGaatcctacactggttaaact	12	11	8	10	1	0	1	0	0	0	1	2	3	2	1	2	2	2	2	2	2	5	4			TCGA-HC-A8D0-01A-11D-A364-08	TCGA-HC-A8D0-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d04bc84-6f8d-4ff3-8044-44e342859531	15291a8d-12a8-4092-914c-995dbb9b607b	g.chr2:163291772G>A	ENST00000332142.5	-	8	1989	c.1890C>T	c.(1888-1890)ttC>ttT	p.F630F	KCNH7_ENST00000328032.4_Silent_p.F623F	NM_033272.3	NP_150375.2	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 7	630					circadian rhythm (GO:0007623)|potassium ion transmembrane transport (GO:0071805)|protein heterooligomerization (GO:0051291)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	inward rectifier potassium channel activity (GO:0005242)|signal transducer activity (GO:0004871)|voltage-gated potassium channel activity (GO:0005249)	p.F630F(1)		NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Doxazosin(DB00590)|Ibutilide(DB00308)|Miconazole(DB01110)|Prazosin(DB00457)|Terazosin(DB01162)	ACACATTCCCGAATCCTACAC	0.383																																					GBM(196;1492 2208 17507 24132 45496)	ENST00000332142.5																			1	Substitution - coding silent(1)	p.F630F(1)	large_intestine(1)	NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108						c.(1888-1890)ttC>ttT		potassium voltage-gated channel, subfamily H (eag-related), member 7	Ibutilide(DB00308)						170	156	161					2																	163291772		2203	4300	6503	SO:0001819	synonymous_variant	90134				regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity	g.chr2:163291772G>A	AF032897	CCDS2219.1, CCDS2220.1	2q24.3	2012-07-05			ENSG00000184611	ENSG00000184611		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	18863	protein-coding gene	gene with protein product		608169				16382104	Standard	NM_173162		Approved	Kv11.3, HERG3, erg3	uc002uch.2	Q9NS40	OTTHUMG00000132069	ENST00000332142.5:c.1890C>T	2.37:g.163291772G>A						KCNH7_ENST00000328032.4_Silent_p.F623F	p.F630F	NM_033272.3	NP_150375.2	Q9NS40	KCNH7_HUMAN			8	1989	-			630					Q53QU4|Q53TB7|Q53TP9|Q8IV15	Silent	SNP	ENST00000332142.5	37	c.1890C>T	CCDS2219.1																																																																																				0.383	KCNH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255093.1	NM_033272		14	65	0	0	0	1	0	14	65					A	163291772	G	A	163291772	2	1	254	1	0	0	0	0	0	0	0	1	8037	1049	37	2		2	KCNH7	2	163291772	Silent	SNP	G	TCGA-HC-A8D0-01A-11D-A364-08		163291772	79907601	4	11887											
KCNH7	90134	broad.mit.edu	37	chr2	163292035	163292035	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agcgccatattctgaatatcGatccagtttcctggccacgc	9	11	8	13	3	1	1	0	1	1	0	4	2	3	1	4	1	1	1	4	1	3	4			TCGA-HC-A8D0-01A-11D-A364-08	TCGA-HC-A8D0-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d04bc84-6f8d-4ff3-8044-44e342859531	15291a8d-12a8-4092-914c-995dbb9b607b	g.chr2:163292035G>A	ENST00000332142.5	-	8	1726	c.1627C>T	c.(1627-1629)Cga>Tga	p.R543*	KCNH7_ENST00000328032.4_Nonsense_Mutation_p.R536*	NM_033272.3	NP_150375.2	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 7	543					circadian rhythm (GO:0007623)|potassium ion transmembrane transport (GO:0071805)|protein heterooligomerization (GO:0051291)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	inward rectifier potassium channel activity (GO:0005242)|signal transducer activity (GO:0004871)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Doxazosin(DB00590)|Ibutilide(DB00308)|Miconazole(DB01110)|Prazosin(DB00457)|Terazosin(DB01162)	TCTGAATATCGATCCAGTTTC	0.453																																					GBM(196;1492 2208 17507 24132 45496)	ENST00000332142.5																			0				NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108						c.(1627-1629)Cga>Tga		potassium voltage-gated channel, subfamily H (eag-related), member 7	Ibutilide(DB00308)						75	72	73					2																	163292035		2203	4300	6503	SO:0001587	stop_gained	90134				regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity	g.chr2:163292035G>A	AF032897	CCDS2219.1, CCDS2220.1	2q24.3	2012-07-05			ENSG00000184611	ENSG00000184611		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	18863	protein-coding gene	gene with protein product		608169				16382104	Standard	NM_173162		Approved	Kv11.3, HERG3, erg3	uc002uch.2	Q9NS40	OTTHUMG00000132069	ENST00000332142.5:c.1627C>T	2.37:g.163292035G>A	ENSP00000331727:p.Arg543*					KCNH7_ENST00000328032.4_Nonsense_Mutation_p.R536*	p.R543*	NM_033272.3	NP_150375.2	Q9NS40	KCNH7_HUMAN			8	1726	-			543					Q53QU4|Q53TB7|Q53TP9|Q8IV15	Nonsense_Mutation	SNP	ENST00000332142.5	37	c.1627C>T	CCDS2219.1	.	.	.	.	.	.	.	.	.	.	G	38	6.908884	0.97928	.	.	ENSG00000184611	ENST00000332142;ENST00000328032	.	.	.	6.16	5.27	0.74061	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.6015	0.62022	0.0:0.0:0.5794:0.4206	.	.	.	.	X	543;536	.	ENSP00000333781:R536X	R	-	1	2	KCNH7	163000281	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	5.281000	0.65609	1.580000	0.49851	0.650000	0.86243	CGA		0.453	KCNH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255093.1	NM_033272		13	48	0	0	0	1	0	13	48					A	163292035	G	A	163292035	4	1	254	1	0	0	0	0	0	1	0	0	8037	1066	37	2	2065	2	KCNH7	2	163292035	Nonsense_Mutation	SNP	G	TCGA-HC-A8D0-01A-11D-A364-08	263	163292035	79907338	5	11888											
CAND2	23066	broad.mit.edu	37	chr3	12858463	12858463	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccacactggcagccctggacGccctggcccagagccagggc	7	3	13	18	1	0	1	0	0	0	1	0	2	0	2	5	4	2	1	5	4	0	0			TCGA-HC-A8D0-01A-11D-A364-08	TCGA-HC-A8D0-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d04bc84-6f8d-4ff3-8044-44e342859531	15291a8d-12a8-4092-914c-995dbb9b607b	g.chr3:12858463G>A	ENST00000456430.2	+	10	2073	c.2032G>A	c.(2032-2034)Gcc>Acc	p.A678T	CAND2_ENST00000295989.5_Missense_Mutation_p.A585T	NM_001162499.1	NP_001155971.1	O75155	CAND2_HUMAN	cullin-associated and neddylation-dissociated 2 (putative)	678					positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	intracellular (GO:0005622)|nucleus (GO:0005634)				breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(8)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						AGCCCTGGACGCCCTGGCCCA	0.667																																					GBM(43;676 868 1633 6395 37496)	ENST00000456430.2																			0				breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(8)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						c.(2032-2034)Gcc>Acc		cullin-associated and neddylation-dissociated 2 (putative)							23	25	24					3																	12858463		2027	4188	6215	SO:0001583	missense	23066				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	g.chr3:12858463G>A		CCDS43053.1, CCDS54554.1	3p25.2	2008-02-05			ENSG00000144712	ENSG00000144712			30689	protein-coding gene	gene with protein product	"TBP interacting protein"	610403				9734811, 10441524	Standard	NM_012298		Approved	TIP120B, KIAA0667, Tp120b	uc003bxk.2	O75155	OTTHUMG00000155397	ENST00000456430.2:c.2032G>A	3.37:g.12858463G>A	ENSP00000387641:p.Ala678Thr					CAND2_ENST00000295989.5_Missense_Mutation_p.A585T	p.A678T	NM_001162499.1	NP_001155971.1	O75155	CAND2_HUMAN			10	2073	+			678					B9EGM9|E9KL24	Missense_Mutation	SNP	ENST00000456430.2	37	c.2032G>A	CCDS54554.1	.	.	.	.	.	.	.	.	.	.	G	3.125	-0.179672	0.06380	.	.	ENSG00000144712	ENST00000295989;ENST00000456430	T;T	0.46451	0.87;0.87	4.95	4.06	0.47325	Armadillo-like helical (1);Armadillo-type fold (1);	0.399765	0.24662	N	0.036623	T	0.35711	0.0941	N	0.04820	-0.15	0.80722	D	1	B;D	0.89917	0.403;1.0	B;D	0.79108	0.042;0.992	T	0.08310	-1.0728	10	0.08837	T	0.75	-9.7504	10.6619	0.45706	0.0943:0.0:0.9057:0.0	.	678;585	O75155;O75155-2	CAND2_HUMAN;.	T	585;678	ENSP00000295989:A585T;ENSP00000387641:A678T	ENSP00000295989:A585T	A	+	1	0	CAND2	12833463	0.338000	0.24775	0.563000	0.28383	0.855000	0.48748	1.951000	0.40333	2.456000	0.83038	0.561000	0.74099	GCC		0.667	CAND2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339856.4	XM_371617		6	42	0	0	0	1	0	6	42					A	12858463	G	A	12858463	3	1	254	1	0	0	0	0	1	0	0	0	2616	1087	38	1	2070	1	CAND2	3	12858463	Missense_Mutation	SNP	G	TCGA-HC-A8D0-01A-11D-A364-08		12858463	185163967	6	11889											
BSN	8927	broad.mit.edu	37	chr3	49698533	49698533	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	caggcccccacctaccctggCcccagcacgtacccagctcc	7	4	7	23	1	0	0	0	0	0	0	1	0	1	0	8	2	4	3	8	2	2	2			TCGA-HC-A8D0-01A-11D-A364-08	TCGA-HC-A8D0-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d04bc84-6f8d-4ff3-8044-44e342859531	15291a8d-12a8-4092-914c-995dbb9b607b	g.chr3:49698533C>A	ENST00000296452.4	+	6	9369	c.9255C>A	c.(9253-9255)ggC>ggA	p.G3085G		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	3085					synaptic transmission (GO:0007268)	axon (GO:0030424)|cell junction (GO:0030054)|dendrite (GO:0030425)|neuron projection terminus (GO:0044306)|nucleus (GO:0005634)|presynaptic cytoskeletal matrix assembled at active zones (GO:0048788)	metal ion binding (GO:0046872)			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		CCTACCCTGGCCCCAGCACGT	0.652																																						ENST00000296452.4																			0				breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106						c.(9253-9255)ggC>ggA		bassoon presynaptic cytomatrix protein							23	24	24					3																	49698533		2203	4297	6500	SO:0001819	synonymous_variant	8927				synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding	g.chr3:49698533C>A	AF052224	CCDS2800.1	3p21	2013-01-07	2013-01-07		ENSG00000164061	ENSG00000164061			1117	protein-coding gene	gene with protein product	"zinc finger protein 231", "neuronal double zinc finger protein"	604020	"bassoon (presynaptic cytomatrix protein)"	ZNF231		9806829, 10329005	Standard	NM_003458		Approved		uc003cxe.4	Q9UPA5	OTTHUMG00000133750	ENST00000296452.4:c.9255C>A	3.37:g.49698533C>A							p.G3085G	NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN		BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)	6	9369	+			3085					O43161|Q7LGH3	Silent	SNP	ENST00000296452.4	37	c.9255C>A	CCDS2800.1																																																																																				0.652	BSN-001	KNOWN	NMD_exception|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000258164.1	NM_003458		3	23	1	0	1	1	1	3	23					A	49698533	C	A	49698533	2	1	254	1	0	0	0	0	0	0	0	1	1530	726	26	5		5	BSN	3	49698533	Silent	SNP	C	TCGA-HC-A8D0-01A-11D-A364-08	36840070	49698533	148323897	7	11890											
ITIH4	3700	broad.mit.edu	37	chr3	52857696	52857696	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gagtgacctcctccacggcaTtgcttgggtactcgaaggtc	7	10	12	12	2	0	1	0	1	0	0	4	3	2	1	3	3	2	3	3	3	2	3			TCGA-HC-A8D0-01A-11D-A364-08	TCGA-HC-A8D0-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d04bc84-6f8d-4ff3-8044-44e342859531	15291a8d-12a8-4092-914c-995dbb9b607b	g.chr3:52857696T>C	ENST00000266041.4	-	11	1511	c.1415A>G	c.(1414-1416)aAt>aGt	p.N472S	ITIH4_ENST00000406595.1_Missense_Mutation_p.N472S|ITIH4_ENST00000467462.1_5'UTR|ITIH4_ENST00000485816.1_Missense_Mutation_p.N472S|ITIH4_ENST00000346281.5_Missense_Mutation_p.N472S|ITIH4_ENST00000434759.3_Missense_Mutation_p.N384S|ITIH4-AS1_ENST00000478366.1_RNA|RP5-966M1.6_ENST00000468472.1_3'UTR	NM_002218.4	NP_002209.2	Q14624	ITIH4_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 4	472					acute-phase response (GO:0006953)|hyaluronan metabolic process (GO:0030212)|negative regulation of endopeptidase activity (GO:0010951)|response to cytokine (GO:0034097)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496)		CTCCACGGCATTGCTTGGGTA	0.582																																						ENST00000266041.4																			0				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	30						c.(1414-1416)aAt>aGt		inter-alpha-trypsin inhibitor heavy chain family, member 4							112	110	110					3																	52857696		2203	4300	6503	SO:0001583	missense	3700				acute-phase response|hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	g.chr3:52857696T>C	D38535	CCDS2865.1, CCDS54596.1	3p21.1	2011-10-26	2011-10-26		ENSG00000055955	ENSG00000055955			6169	protein-coding gene	gene with protein product	"plasma Kallikrein-sensitive glycoprotein"	600564	"inter-alpha (globulin) inhibitor H4 (plasma Kallikrein-sensitive glycoprotein)"	ITIHL1		9480842, 7805892	Standard	NM_002218		Approved	IHRP, H4P	uc003dfz.3	Q14624	OTTHUMG00000159023	ENST00000266041.4:c.1415A>G	3.37:g.52857696T>C	ENSP00000266041:p.Asn472Ser					ITIH4_ENST00000346281.5_Missense_Mutation_p.N472S|ITIH4_ENST00000485816.1_Missense_Mutation_p.N472S|ITIH4_ENST00000434759.3_Missense_Mutation_p.N384S|ITIH4_ENST00000406595.1_Missense_Mutation_p.N472S|ITIH4_ENST00000467462.1_5'UTR	p.N472S	NM_002218.4	NP_002209.2	Q14624	ITIH4_HUMAN		BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496)	11	1511	-			472					B7Z545|E9PGN5|Q15135|Q9P190|Q9UQ54	Missense_Mutation	SNP	ENST00000266041.4	37	c.1415A>G	CCDS2865.1	.	.	.	.	.	.	.	.	.	.	T	12.50	1.955794	0.34471	.	.	ENSG00000055955	ENST00000266041;ENST00000346281;ENST00000485816;ENST00000406595;ENST00000538421;ENST00000434759	T;T;T;T;T	0.14022	2.54;2.54;2.54;2.54;2.54	4.56	3.39	0.38822	.	0.308221	0.26397	N	0.024606	T	0.26048	0.0635	M	0.62154	1.92	0.80722	D	1	D;D;D;P	0.61080	0.989;0.989;0.989;0.617	P;P;P;P	0.57101	0.813;0.813;0.813;0.496	T	0.00878	-1.1530	10	0.72032	D	0.01	-10.945	9.7655	0.40559	0.0:0.0839:0.0:0.916	.	472;472;472;472	E9PGN5;B7ZKJ8;Q14624;Q14624-2	.;.;ITIH4_HUMAN;.	S	472;472;472;472;460;384	ENSP00000266041:N472S;ENSP00000340520:N472S;ENSP00000417824:N472S;ENSP00000384425:N472S;ENSP00000440036:N384S	ENSP00000266041:N472S	N	-	2	0	ITIH4	52832736	0.799000	0.28903	0.049000	0.19019	0.018000	0.09664	2.002000	0.40835	0.602000	0.29896	-0.441000	0.05720	AAT		0.582	ITIH4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317715.1	NM_002218		11	73	0	0	0	1	0	11	73					C	52857696	T	C	52857696	3	2	254	1	0	0	0	0	1	0	0	0	7906	1493	52	4	1433	4	ITIH4	3	52857696	Missense_Mutation	SNP	T	TCGA-HC-A8D0-01A-11D-A364-08	3159163	52857696	145164734	8	11891											
PEX5L	51555	broad.mit.edu	37	chr3	179529651	179529651	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcctgggttatcccgaggaaCtgccatgcctacgaaagaca	11	7	11	12	2	0	1	0	0	0	1	1	4	1	2	4	2	4	1	4	2	4	2			TCGA-HC-A8D0-01A-11D-A364-08	TCGA-HC-A8D0-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d04bc84-6f8d-4ff3-8044-44e342859531	15291a8d-12a8-4092-914c-995dbb9b607b	g.chr3:179529651C>A	ENST00000467460.1	-	11	1422	c.1092G>T	c.(1090-1092)caG>caT	p.Q364H	PEX5L_ENST00000263962.8_Missense_Mutation_p.Q362H|PEX5L_ENST00000467440.2_5'UTR|PEX5L_ENST00000468741.1_Missense_Mutation_p.Q172H|PEX5L_ENST00000392649.3_Missense_Mutation_p.Q256H|PEX5L_ENST00000476138.1_Missense_Mutation_p.Q321H|PEX5L_ENST00000485199.1_Missense_Mutation_p.Q329H|PEX5L_ENST00000472994.1_Missense_Mutation_p.Q305H|PEX5L_ENST00000464614.1_Missense_Mutation_p.Q256H|PEX5L_ENST00000465751.1_Missense_Mutation_p.Q340H	NM_001256751.1|NM_016559.2	NP_001243680.1|NP_057643.1	Q8IYB4	PEX5R_HUMAN	peroxisomal biogenesis factor 5-like	364					maintenance of protein location (GO:0045185)|protein import into peroxisome matrix (GO:0016558)|protein import into peroxisome matrix, docking (GO:0016560)|regulation of cAMP-mediated signaling (GO:0043949)|regulation of membrane potential (GO:0042391)	cytosol (GO:0005829)|dendrite (GO:0030425)|peroxisomal membrane (GO:0005778)|receptor complex (GO:0043235)	peroxisome matrix targeting signal-1 binding (GO:0005052)|peroxisome targeting sequence binding (GO:0000268)|small GTPase binding (GO:0031267)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	all_cancers(143;3.94e-14)|Ovarian(172;0.0338)|Breast(254;0.183)		OV - Ovarian serous cystadenocarcinoma(80;1.75e-26)|GBM - Glioblastoma multiforme(14;0.000518)			TCCCGAGGAACTGCCATGCCT	0.468																																						ENST00000467460.1																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						c.(1090-1092)caG>caT		peroxisomal biogenesis factor 5-like							154	145	148					3																	179529651		2203	4300	6503	SO:0001583	missense	51555				protein import into peroxisome matrix|regulation of cAMP-mediated signaling	cytosol|peroxisomal membrane	peroxisome matrix targeting signal-1 binding	g.chr3:179529651C>A	AJ245503	CCDS3236.1, CCDS58861.1, CCDS58862.1, CCDS58863.1, CCDS58864.1, CCDS58865.1, CCDS58866.1, CCDS58867.1	3q27.1	2013-01-10			ENSG00000114757	ENSG00000114757		"Tetratricopeptide (TTC) repeat domain containing"	30024	protein-coding gene	gene with protein product		611058				11463335	Standard	NM_016559		Approved	PEX5R, PXR2	uc003fki.2	Q8IYB4	OTTHUMG00000157363	ENST00000467460.1:c.1092G>T	3.37:g.179529651C>A	ENSP00000419975:p.Gln364His					PEX5L_ENST00000485199.1_Missense_Mutation_p.Q329H|PEX5L_ENST00000472994.1_Missense_Mutation_p.Q305H|PEX5L_ENST00000476138.1_Missense_Mutation_p.Q321H|PEX5L_ENST00000468741.1_Missense_Mutation_p.Q172H|PEX5L_ENST00000467440.2_5'UTR|PEX5L_ENST00000465751.1_Missense_Mutation_p.Q340H|PEX5L_ENST00000464614.1_Missense_Mutation_p.Q256H|PEX5L_ENST00000392649.3_Missense_Mutation_p.Q256H|PEX5L_ENST00000263962.8_Missense_Mutation_p.Q362H	p.Q364H	NM_001256751.1|NM_016559.2	NP_001243680.1|NP_057643.1	Q8IYB4	PEX5R_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1.75e-26)|GBM - Glioblastoma multiforme(14;0.000518)		11	1422	-	all_cancers(143;3.94e-14)|Ovarian(172;0.0338)|Breast(254;0.183)		364					B7Z2A5|B7Z305|B7Z318|B7Z5Z5|B7Z8P2|E7EUV8|E7EUZ0|E9PEC1|E9PH97|Q9NQD1|Q9P2U3|Q9P2U4	Missense_Mutation	SNP	ENST00000467460.1	37	c.1092G>T	CCDS3236.1	.	.	.	.	.	.	.	.	.	.	C	16.58	3.162259	0.57368	.	.	ENSG00000114757	ENST00000467460;ENST00000263962;ENST00000485199;ENST00000382596;ENST00000392649;ENST00000468741;ENST00000476138;ENST00000467440;ENST00000472994;ENST00000464614;ENST00000465751	T;T;T;T;T;T;T;T;T	0.62788	0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0	5.41	1.49	0.22878	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.123875	0.56097	N	0.000030	T	0.75953	0.3920	M	0.83012	2.62	0.53688	D	0.99997	B;B;D;D;D;D	0.89917	0.009;0.005;1.0;0.999;0.998;0.999	B;B;D;D;D;D	0.77557	0.01;0.01;0.99;0.967;0.952;0.98	T	0.74922	-0.3499	10	0.87932	D	0	-14.8526	7.8834	0.29635	0.0:0.6787:0.1181:0.2031	.	305;340;256;362;329;364	E7EUZ0;E9PH97;E9PEC1;Q8IYB4-2;Q8IYB4-3;Q8IYB4	.;.;.;.;.;PEX5R_HUMAN	H	364;362;329;362;256;172;321;252;305;256;340	ENSP00000419975:Q364H;ENSP00000263962:Q362H;ENSP00000418440:Q329H;ENSP00000376420:Q256H;ENSP00000418665:Q172H;ENSP00000420555:Q321H;ENSP00000418054:Q305H;ENSP00000417270:Q256H;ENSP00000419348:Q340H	ENSP00000263962:Q362H	Q	-	3	2	PEX5L	181012345	1.000000	0.71417	0.999000	0.59377	0.911000	0.54048	2.085000	0.41634	0.325000	0.23359	-0.142000	0.14014	CAG		0.468	PEX5L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348577.1	NM_016559		9	65	1	0	1.58986e-06	1	1.65101e-06	9	65					A	179529651	C	A	179529651	3	1	254	1	0	0	0	0	1	0	0	0	11749	564	20	5	808	5	PEX5L	3	179529651	Missense_Mutation	SNP	C	TCGA-HC-A8D0-01A-11D-A364-08	126671955	179529651	18492779	9	11892											
CRIPAK	285464	broad.mit.edu	37	chr4	1389214	1389214	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tgcccgcctgctcacacgtgCcgacgtggagtgcccgcctg	4	7	13	17	5	1	0	1	0	0	0	1	2	1	1	5	1	4	1	5	1	0	0			TCGA-HC-A8D0-01A-11D-A364-08	TCGA-HC-A8D0-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d04bc84-6f8d-4ff3-8044-44e342859531	15291a8d-12a8-4092-914c-995dbb9b607b	g.chr4:1389214C>T	ENST00000324803.4	+	1	3875	c.915C>T	c.(913-915)tgC>tgT	p.C305C		NM_175918.3	NP_787114.2	Q8N1N5	CRPAK_HUMAN	cysteine-rich PAK1 inhibitor	305					negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of protein kinase activity (GO:0006469)|regulation of cytoskeleton organization (GO:0051493)|response to estrogen (GO:0043627)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(1)	35			OV - Ovarian serous cystadenocarcinoma(23;0.0106)			CTCACACGTGCCGACGTGGAG	0.662																																						ENST00000324803.4																			0				NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(1)	35						c.(913-915)tgC>tgT		cysteine-rich PAK1 inhibitor							146	148	147					4																	1389214		2203	4300	6503	SO:0001819	synonymous_variant	285464				ER-nucleus signaling pathway|negative regulation of protein kinase activity|regulation of cytoskeleton organization|response to estrogen stimulus	endoplasmic reticulum|nucleus|plasma membrane	protein binding	g.chr4:1389214C>T	AK096209	CCDS3349.1	4p16.3	2011-02-10	2006-09-04		ENSG00000179979	ENSG00000179979			26619	protein-coding gene	gene with protein product		610203	"cysteine-rich PAK1inhibitor"			16278681	Standard	NM_175918		Approved	FLJ34443	uc003gdf.2	Q8N1N5	OTTHUMG00000121131	ENST00000324803.4:c.915C>T	4.37:g.1389214C>T							p.C305C	NM_175918.3	NP_787114.2	Q8N1N5	CRPAK_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.0106)		1	3875	+			305					Q8NB03	Silent	SNP	ENST00000324803.4	37	c.915C>T	CCDS3349.1																																																																																				0.662	CRIPAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241607.2	NM_175918		5	228	0	0	0	1	0	5	228					T	1389214	C	T	1389214	2	4	254	1	0	0	0	0	0	0	0	1	3877	747	26	3		3	CRIPAK	4	1389214	Silent	SNP	C	TCGA-HC-A8D0-01A-11D-A364-08		1389214	189765062	10	11893											
MTTP	4547	broad.mit.edu	37	chr4	100543849	100543849	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tacaggcaatttgagaaaaaGtacgaaaggctgtccacagg	16	7	11	7	1	0	1	0	1	0	1	1	3	1	1	1	3	2	3	1	3	6	3			TCGA-HC-A8D0-01A-11D-A364-08	TCGA-HC-A8D0-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d04bc84-6f8d-4ff3-8044-44e342859531	15291a8d-12a8-4092-914c-995dbb9b607b	g.chr4:100543849G>A	ENST00000265517.5	+	18	2732	c.2529G>A	c.(2527-2529)aaG>aaA	p.K843K	MTTP_ENST00000457717.1_Silent_p.K843K|MTTP_ENST00000511045.1_Silent_p.K870K|RP11-766F14.1_ENST00000508578.1_RNA			P55157	MTP_HUMAN	microsomal triglyceride transfer protein	843					cholesterol homeostasis (GO:0042632)|lipid metabolic process (GO:0006629)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|protein lipidation (GO:0006497)|response to calcium ion (GO:0051592)|small molecule metabolic process (GO:0044281)|triglyceride metabolic process (GO:0006641)	basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|endoplasmic reticulum lumen (GO:0005788)|Golgi apparatus (GO:0005794)|membrane-bounded vesicle (GO:0031988)|microvillus membrane (GO:0031528)|receptor complex (GO:0043235)|rough endoplasmic reticulum (GO:0005791)	lipid binding (GO:0008289)|lipid transporter activity (GO:0005319)			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(14)|lung(19)|ovary(4)|prostate(5)|skin(1)|urinary_tract(1)	57				OV - Ovarian serous cystadenocarcinoma(123;6.04e-09)	Hesperetin(DB01094)|Lomitapide(DB08827)	TTGAGAAAAAGTACGAAAGGC	0.418																																						ENST00000457717.1																			0				breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(14)|lung(19)|ovary(4)|prostate(5)|skin(1)|urinary_tract(1)	57						c.(2527-2529)aaG>aaA		microsomal triglyceride transfer protein	Hesperetin(DB01094)						118	116	117					4																	100543849		2203	4300	6503	SO:0001819	synonymous_variant	4547				lipid metabolic process|lipoprotein metabolic process	endoplasmic reticulum lumen	lipid binding|lipid transporter activity	g.chr4:100543849G>A		CCDS3651.1, CCDS75169.1	4q24	2008-02-05	2005-11-04	2005-11-04	ENSG00000138823	ENSG00000138823			7467	protein-coding gene	gene with protein product		157147	"microsomal triglyceride transfer protein (large polypeptide, 88kD)", "microsomal triglyceride transfer protein (large polypeptide, 88kDa)"	MTP		8111381	Standard	XM_005263025		Approved	ABL	uc003hvc.4	P55157	OTTHUMG00000131023	ENST00000265517.5:c.2529G>A	4.37:g.100543849G>A						MTTP_ENST00000511045.1_Silent_p.K870K|RP11-766F14.1_ENST00000508578.1_RNA|MTTP_ENST00000265517.5_Silent_p.K843K	p.K843K	NM_000253.2	NP_000244.2	P55157	MTP_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;6.04e-09)	19	2785	+			843					A8K428|Q08AM4|Q6P5T3	Silent	SNP	ENST00000265517.5	37	c.2529G>A	CCDS3651.1																																																																																				0.418	MTTP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253662.3			13	46	0	0	0	1	0	13	46					A	100543849	G	A	100543849	2	1	254	1	0	0	0	0	0	0	0	1	9964	1020	36	3		3	MTTP	4	100543849	Silent	SNP	G	TCGA-HC-A8D0-01A-11D-A364-08	99154635	100543849	90610427	11	11894											
APC	324	broad.mit.edu	37	chr5	112175949	112175949	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaaaaccaagagaaagaggCagaaaaaactattgattctg	20	7	9	5	0	1	5	0	2	1	3	1	6	1	5	1	1	2	1	1	1	8	3			TCGA-HC-A8D0-01A-11D-A364-08	TCGA-HC-A8D0-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d04bc84-6f8d-4ff3-8044-44e342859531	15291a8d-12a8-4092-914c-995dbb9b607b	g.chr5:112175949C>T	ENST00000457016.1	+	16	5038	c.4658C>T	c.(4657-4659)gCa>gTa	p.A1553V	APC_ENST00000508376.2_Missense_Mutation_p.A1553V|APC_ENST00000257430.4_Missense_Mutation_p.A1553V|CTC-554D6.1_ENST00000520401.1_Intron			P25054	APC_HUMAN	adenomatous polyposis coli	1553	Ser-rich.				anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|axis specification (GO:0009798)|axonogenesis (GO:0007409)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|canonical Wnt signaling pathway involved in positive regulation of apoptotic process (GO:0044337)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to DNA damage stimulus (GO:0006974)|chromosome organization (GO:0051276)|cytoplasmic microtubule organization (GO:0031122)|dorsal/ventral pattern formation (GO:0009953)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cytokinesis (GO:0000281)|mitotic spindle assembly checkpoint (GO:0007094)|muscle cell cellular homeostasis (GO:0046716)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of odontogenesis (GO:0042483)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell division (GO:0051781)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of pseudopodium assembly (GO:0031274)|protein complex assembly (GO:0006461)|proximal/distal pattern formation (GO:0009954)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|regulation of microtubule-based process (GO:0032886)|regulation of nitrogen compound metabolic process (GO:0051171)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoclast differentiation (GO:0045670)|retina development in camera-type eye (GO:0060041)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tight junction assembly (GO:0070830)	axonal growth cone (GO:0044295)|beta-catenin destruction complex (GO:0030877)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|kinetochore (GO:0000776)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|microtubule plus-end (GO:0035371)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)	beta-catenin binding (GO:0008013)|gamma-catenin binding (GO:0045295)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|protein kinase binding (GO:0019901)|protein kinase regulator activity (GO:0019887)	p.K1192fs*3(1)|p.?(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		GAGAAAGAGGCAGAAAAAACT	0.343		12	"D, Mis, N, F, S"		"colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"	"colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)																											NSCLC(107;854 1218 9699 17025 28335 47076 52975)|Esophageal Squamous(32;282 584 32991 36563 39392 49665 50115)	ENST00000457016.1		12	yes	Rec	yes	Adenomatous polyposis coli; Turcot syndrome	5	5q21	324	"D, Mis, N, F, S"	adenomatous polyposis of the colon gene			"E, M, O"		"colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"	"colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"		2	Unknown(1)|Deletion - Frameshift(1)	p.K1192fs*3(1)|p.?(1)	soft_tissue(1)|skin(1)	NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261						c.(4657-4659)gCa>gTa		adenomatous polyposis coli							79	86	84					5																	112175949		2202	4300	6502	SO:0001583	missense	324	Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome;Familial Infiltrative Mesenteric Fibromatosis;FAP, incl.: Gardner s., Attenuated FAP, Flat Adenoma s., Oldfield s,	canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly	adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction	beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity	g.chr5:112175949C>T	M74088	CCDS4107.1	5q21-q22	2014-09-17	2008-01-08		ENSG00000134982	ENSG00000134982		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "Armadillo repeat containing"	583	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 46"	611731	"adenomatosis polyposis coli"			1651563	Standard	NM_001127511		Approved	DP2, DP3, DP2.5, PPP1R46	uc003kpy.4	P25054	OTTHUMG00000128806	ENST00000457016.1:c.4658C>T	5.37:g.112175949C>T	ENSP00000413133:p.Ala1553Val	TSP Lung(16;0.13)				CTC-554D6.1_ENST00000520401.1_Intron|APC_ENST00000257430.4_Missense_Mutation_p.A1553V|APC_ENST00000508376.2_Missense_Mutation_p.A1553V	p.A1553V			P25054	APC_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)	16	5038	+		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)	1553			Ser-rich.		D3DT03|Q15162|Q15163|Q93042	Missense_Mutation	SNP	ENST00000457016.1	37	c.4658C>T	CCDS4107.1	.	.	.	.	.	.	.	.	.	.	C	3.414	-0.119508	0.06838	.	.	ENSG00000134982	ENST00000457016;ENST00000257430;ENST00000508376	D;D;D	0.89746	-2.56;-2.56;-2.56	6.16	-1.65	0.08291	.	1.103820	0.06567	N	0.747730	D	0.83644	0.5299	L	0.54323	1.7	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.63633	-0.6593	9	.	.	.	0.2031	5.567	0.17177	0.2197:0.2962:0.0:0.4841	.	1555;1553	Q4LE70;P25054	.;APC_HUMAN	V	1553	ENSP00000413133:A1553V;ENSP00000257430:A1553V;ENSP00000427089:A1553V	.	A	+	2	0	APC	112203848	0.000000	0.05858	0.001000	0.08648	0.501000	0.33797	-0.086000	0.11233	-0.700000	0.05070	-0.143000	0.13931	GCA		0.343	APC-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250738.2	NM_000038		13	67	0	0	0	1	0	13	67					T	112175949	C	T	112175949	3	4	254	1	0	0	0	0	1	0	0	0	763	710	25	3	4716	3	APC	5	112175949	Missense_Mutation	SNP	C	TCGA-HC-A8D0-01A-11D-A364-08		112175949	68739311	12	11895											
PCDHA12	56137	broad.mit.edu	37	chr5	140257255	140257255	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcccaccgtgagccggtgcgCgccgggcaagcccacgctgg	5	3	16	17	6	0	1	0	1	0	0	0	1	0	1	5	3	3	2	5	3	1	0			TCGA-HC-A8D0-01A-11D-A364-08	TCGA-HC-A8D0-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d04bc84-6f8d-4ff3-8044-44e342859531	15291a8d-12a8-4092-914c-995dbb9b607b	g.chr5:140257255C>T	ENST00000398631.2	+	1	2198	c.2198C>T	c.(2197-2199)gCg>gTg	p.A733V	PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA7_ENST00000525929.1_Intron	NM_018903.2|NM_031864.2	NP_061726.1|NP_114070.1	Q9UN75	PCDAC_HUMAN	protocadherin alpha 12	733					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(4)|breast(2)|cervix(1)|endometrium(19)|kidney(8)|large_intestine(8)|liver(2)|lung(25)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGCCGGTGCGCGCCGGGCAAG	0.677																																					Pancreas(113;759 1672 13322 24104 50104)	ENST00000398631.2																			0				NS(4)|breast(2)|cervix(1)|endometrium(19)|kidney(8)|large_intestine(8)|liver(2)|lung(25)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	78						c.(2197-2199)gCg>gTg									27	27	27					5																	140257255		2201	4298	6499	SO:0001583	missense	0							g.chr5:140257255C>T	AF152477	CCDS47285.1, CCDS75327.1	5q31	2010-11-26			ENSG00000251664	ENSG00000251664		"Cadherins / Protocadherins : Clustered"	8666	other	complex locus constituent	"KIAA0345-like 2"	606318				10380929	Standard	NM_018903		Approved	PCDH-ALPHA12	uc003lic.2	Q9UN75	OTTHUMG00000163366	ENST00000398631.2:c.2198C>T	5.37:g.140257255C>T	ENSP00000381628:p.Ala733Val					PCDHA4_ENST00000512229.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA7_ENST00000525929.1_Intron	p.A733V	NM_018903.2|NM_031864.1	NP_061726.1|NP_114070.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2198	+								O75278|Q2M1N8	Missense_Mutation	SNP	ENST00000398631.2	37	c.2198C>T	CCDS47285.1	.	.	.	.	.	.	.	.	.	.	C	9.232	1.035977	0.19590	.	.	ENSG00000251664	ENST00000398631	T	0.12672	2.66	4.88	1.9	0.25705	.	.	.	.	.	T	0.11110	0.0271	L	0.39898	1.24	0.09310	N	1	B;B	0.15141	0.012;0.003	B;B	0.10450	0.005;0.002	T	0.35276	-0.9795	9	0.20519	T	0.43	.	9.4973	0.38995	0.0:0.3067:0.547:0.1463	.	733;733	Q9UN75-2;Q9UN75	.;PCDAC_HUMAN	V	733	ENSP00000381628:A733V	ENSP00000381628:A733V	A	+	2	0	PCDHA12	140237439	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.404000	0.07205	0.439000	0.26476	-0.165000	0.13383	GCG		0.677	PCDHA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372882.2	NM_018903		8	24	0	0	0	1	0	8	24					T	140257255	C	T	140257255	3	4	254	1	0	0	0	0	1	0	0	0	11522	768	27	1	2200	1	PCDHA12	5	140257255	Missense_Mutation	SNP	C	TCGA-HC-A8D0-01A-11D-A364-08	28081306	140257255	40658005	13	11896											
PCDHB12	56124	broad.mit.edu	37	chr5	140590067	140590067	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctgcaggggttccagttcCgcgtgggcgccacagaccac	6	6	13	16	3	0	1	0	0	0	1	2	1	2	1	5	3	1	3	5	3	0	2			TCGA-HC-A8D0-01A-11D-A364-08	TCGA-HC-A8D0-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d04bc84-6f8d-4ff3-8044-44e342859531	15291a8d-12a8-4092-914c-995dbb9b607b	g.chr5:140590067C>T	ENST00000239450.2	+	1	1777	c.1588C>T	c.(1588-1590)Cgc>Tgc	p.R530C	PCDHB12_ENST00000541609.1_Missense_Mutation_p.R193C	NM_018932.3	NP_061755.1	Q9Y5F1	PCDBC_HUMAN	protocadherin beta 12	530	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GTTCCAGTTCCGCGTGGGCGC	0.677																																						ENST00000239450.2																			0				NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1)	83						c.(1588-1590)Cgc>Tgc									65	71	69					5																	140590067		2203	4300	6503	SO:0001583	missense	0				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	g.chr5:140590067C>T	AF152491	CCDS4254.1	5q31	2010-01-26			ENSG00000120328	ENSG00000120328		"Cadherins / Protocadherins : Clustered"	8683	other	protocadherin		606338				10380929	Standard	NM_018932		Approved	PCDH-BETA12	uc003liz.3	Q9Y5F1	OTTHUMG00000129620	ENST00000239450.2:c.1588C>T	5.37:g.140590067C>T	ENSP00000239450:p.Arg530Cys					PCDHB12_ENST00000541609.1_Missense_Mutation_p.R193C	p.R530C	NM_018932.3	NP_061755.1	Q9Y5F1	PCDBC_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1777	+			530			Cadherin 5.		B4DDU1	Missense_Mutation	SNP	ENST00000239450.2	37	c.1588C>T	CCDS4254.1	.	.	.	.	.	.	.	.	.	.	C	7.187	0.590694	0.13812	.	.	ENSG00000120328	ENST00000541609;ENST00000239450;ENST00000507840	T;T	0.01767	4.65;4.65	3.41	-6.81	0.01704	Cadherin (5);Cadherin-like (1);	.	.	.	.	T	0.01835	0.0058	L	0.55103	1.725	0.09310	N	1	B	0.22276	0.067	B	0.24269	0.052	T	0.45249	-0.9274	9	0.54805	T	0.06	.	3.4651	0.07547	0.1552:0.261:0.4232:0.1606	.	530	Q9Y5F1	PCDBC_HUMAN	C	193;530;150	ENSP00000440199:R193C;ENSP00000239450:R530C	ENSP00000239450:R530C	R	+	1	0	PCDHB12	140570251	0.000000	0.05858	0.274000	0.24659	0.634000	0.38068	-7.024000	0.00046	-1.050000	0.03230	0.485000	0.47835	CGC		0.677	PCDHB12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251815.2	NM_018932		22	59	0	0	0	1	0	22	59					T	140590067	C	T	140590067	3	4	254	1	0	0	0	0	1	0	0	0	11537	652	23	2	1590	2	PCDHB12	5	140590067	Missense_Mutation	SNP	C	TCGA-HC-A8D0-01A-11D-A364-08	332812	140590067	40325193	14	11897											
BTNL8	79908	broad.mit.edu	37	chr5	180377516	180377516	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcctcctcacaggcaaccaCgcccttcctccccaggggtg	6	7	9	19	1	1	0	1	0	0	0	5	0	5	0	7	3	1	1	7	3	1	1	rs200621852		TCGA-HC-A8D0-01A-11D-A364-08	TCGA-HC-A8D0-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d04bc84-6f8d-4ff3-8044-44e342859531	15291a8d-12a8-4092-914c-995dbb9b607b	g.chr5:180377516C>T	ENST00000340184.4	+	8	1681	c.1475C>T	c.(1474-1476)aCg>aTg	p.T492M	BTNL8_ENST00000508408.1_3'UTR|BTNL8_ENST00000400707.3_Missense_Mutation_p.T367M|BTNL8_ENST00000533815.2_Missense_Mutation_p.T308M|BTNL8_ENST00000231229.4_3'UTR|BTNL8_ENST00000511704.1_Missense_Mutation_p.T376M|BTNL8_ENST00000505126.1_Missense_Mutation_p.T285M	NM_001040462.2	NP_001035552.1	Q6UX41	BTNL8_HUMAN	butyrophilin-like 8	492					immune system process (GO:0002376)	integral component of membrane (GO:0016021)				breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	28	all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CAGGCAACCACGCCCTTCCTC	0.532													c|||	1	0.000199681	0	0	5008	,	,		16550	0		0.001	False		,,,				2504	0					ENST00000340184.4																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	28						c.(1474-1476)aCg>aTg		butyrophilin-like 8		C	MET/THR,MET/THR,,MET/THR,MET/THR,	0,3768		0,0,1884	62	53	56		1475,1127,,1100,923,	-0.7	0	5		56	2,7566		0,2,3782	yes	missense,missense,utr-3,missense,missense,utr-3	BTNL8	NM_001040462.2,NM_001159707.1,NM_001159708.1,NM_001159709.1,NM_001159710.1,NM_024850.2	81,81,,81,81,	0,2,5666	TT,TC,CC		0.0264,0.0,0.0176	probably-damaging,probably-damaging,,probably-damaging,probably-damaging,	492/501,376/385,,367/376,308/317,	180377516	2,11334	1884	3784	5668	SO:0001583	missense	79908					integral to membrane		g.chr5:180377516C>T	AK025111	CCDS4459.1, CCDS43413.1, CCDS54956.1, CCDS54957.1, CCDS54958.1, CCDS54959.1	5q35.3	2014-01-14			ENSG00000113303	ENSG00000113303		"Immunoglobulin superfamily / V-set domain containing", "Butyrophilins"	26131	protein-coding gene	gene with protein product		615606				12975309	Standard	NM_024850		Approved	FLJ21458, BTN9.2	uc003mmp.3	Q6UX41	OTTHUMG00000130932	ENST00000340184.4:c.1475C>T	5.37:g.180377516C>T	ENSP00000342197:p.Thr492Met					BTNL8_ENST00000533815.2_Missense_Mutation_p.T308M|BTNL8_ENST00000231229.4_3'UTR|BTNL8_ENST00000505126.1_Missense_Mutation_p.T285M|BTNL8_ENST00000400707.3_Missense_Mutation_p.T367M|BTNL8_ENST00000511704.1_Missense_Mutation_p.T376M|BTNL8_ENST00000508408.1_3'UTR	p.T492M	NM_001040462.2	NP_001035552.1	Q6UX41	BTNL8_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		8	1681	+	all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	492					A4QMZ8|A6NEX6|B7Z409|B7Z5B1|E9PEF6|E9PG07|F2Z2B2|F8W712|Q9H730	Missense_Mutation	SNP	ENST00000340184.4	37	c.1475C>T	CCDS43413.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	1.756	-0.488115	0.04352	0.0	2.64E-4	ENSG00000113303	ENST00000340184;ENST00000400707;ENST00000511704;ENST00000505126;ENST00000533815	T;T;T;T;T	0.61392	1.28;0.59;0.56;0.11;0.17	1.28	-0.684	0.11331	.	.	.	.	.	T	0.28566	0.0707	N	0.08118	0	0.09310	N	1	B;B;B	0.29232	0.238;0.238;0.238	B;B;B	0.12156	0.007;0.007;0.007	T	0.10109	-1.0644	9	0.45353	T	0.12	.	3.9091	0.09196	0.0:0.5228:0.0:0.4772	.	367;376;492	E9PG07;E9PEF6;Q6UX41	.;.;BTNL8_HUMAN	M	492;367;376;285;308	ENSP00000342197:T492M;ENSP00000383543:T367M;ENSP00000425207:T376M;ENSP00000427441:T285M;ENSP00000435098:T308M	ENSP00000342197:T492M	T	+	2	0	BTNL8	180310122	0.000000	0.05858	0.001000	0.08648	0.006000	0.05464	-0.915000	0.04033	-0.259000	0.09432	-0.465000	0.05216	ACG		0.532	BTNL8-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000368440.1	NM_024850		11	37	0	0	0	1	0	11	37					T	180377516	C	T	180377516	3	4	254	1	0	0	0	0	1	0	0	0	1567	536	19	1	1661	1	BTNL8	5	180377516	Missense_Mutation	SNP	C	TCGA-HC-A8D0-01A-11D-A364-08	39787449	180377516	537744	15	11898											
TTLL2	83887	broad.mit.edu	37	chr6	167754428	167754428	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tttgtggaagaaaatccaccGcatggttattctcaccattc	11	13	7	10	1	1	1	1	0	1	1	4	2	2	2	3	2	0	2	3	2	4	4	rs556516360		TCGA-HC-A8D0-01A-11D-A364-08	TCGA-HC-A8D0-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d04bc84-6f8d-4ff3-8044-44e342859531	15291a8d-12a8-4092-914c-995dbb9b607b	g.chr6:167754428G>A	ENST00000239587.5	+	3	1128	c.1040G>A	c.(1039-1041)cGc>cAc	p.R347H		NM_031949.4	NP_114155.4	Q9BWV7	TTLL2_HUMAN	tubulin tyrosine ligase-like family, member 2	347	TTL. {ECO:0000255|PROSITE- ProRule:PRU00568}.				cellular protein modification process (GO:0006464)		ligase activity (GO:0016874)			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		Breast(66;7.8e-06)|Ovarian(120;0.024)		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)		AAAATCCACCGCATGGTTATT	0.443																																						ENST00000239587.5																			0				central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						c.(1039-1041)cGc>cAc		tubulin tyrosine ligase-like family, member 2							214	219	217					6																	167754428		2203	4300	6503	SO:0001583	missense	83887				protein modification process		ATP binding|tubulin-tyrosine ligase activity	g.chr6:167754428G>A	AK093039	CCDS5301.1	6q27	2013-02-14		2004-01-14	ENSG00000120440	ENSG00000120440		"Tubulin tyrosine ligase-like family"	21211	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 104"	C6orf104		11054573	Standard	XM_006715572		Approved	NYD-TSPG, dJ366N23.3	uc003qvs.1	Q9BWV7	OTTHUMG00000016023	ENST00000239587.5:c.1040G>A	6.37:g.167754428G>A	ENSP00000239587:p.Arg347His						p.R347H	NM_031949.4	NP_114155.4	Q9BWV7	TTLL2_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)	3	1128	+		Breast(66;7.8e-06)|Ovarian(120;0.024)	347			TTL.		B2RB11|B3KS77|Q7Z6R8|Q86X22	Missense_Mutation	SNP	ENST00000239587.5	37	c.1040G>A	CCDS5301.1	.	.	.	.	.	.	.	.	.	.	g	0.011	-1.713571	0.00706	.	.	ENSG00000120440	ENST00000239587;ENST00000540954	T	0.08193	3.12	3.75	-7.5	0.01351	.	1.733100	0.03322	N	0.192033	T	0.00967	0.0032	N	0.14661	0.345	0.09310	N	1	B	0.09022	0.002	B	0.08055	0.003	T	0.34825	-0.9813	10	0.23891	T	0.37	.	4.8116	0.13345	0.6668:0.083:0.1676:0.0826	.	347	Q9BWV7	TTLL2_HUMAN	H	347;274	ENSP00000239587:R347H	ENSP00000239587:R347H	R	+	2	0	TTLL2	167674418	0.000000	0.05858	0.000000	0.03702	0.029000	0.11900	-0.079000	0.11357	-3.397000	0.00171	-1.282000	0.01380	CGC		0.443	TTLL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043127.3	NM_031949		17	195	0	0	0	1	0	17	195					A	167754428	G	A	167754428	3	1	254	1	0	0	0	0	1	0	0	0	16724	1087	38	1	1050	1	TTLL2	6	167754428	Missense_Mutation	SNP	G	TCGA-HC-A8D0-01A-11D-A364-08		167754428	3360639	16	11899											
DLL1	28514	broad.mit.edu	37	chr6	170598843	170598844	+	Frame_Shift_Ins	INS	-	-	A																															tgcggttccccagcagccccINSttcttgttgacgaactcctg																										TCGA-HC-A8D0-01A-11D-A364-08	TCGA-HC-A8D0-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d04bc84-6f8d-4ff3-8044-44e342859531	15291a8d-12a8-4092-914c-995dbb9b607b	g.chr6:170598843_170598844insA	ENST00000366756.3	-	2	440_441	c.107_108insT	c.(106-108)aagfs	p.K36fs	FAM120B_ENST00000540480.1_5'Flank	NM_005618.3	NP_005609.3	O00548	DLL1_HUMAN	delta-like 1 (Drosophila)	36					cell differentiation (GO:0030154)|cell fate determination (GO:0001709)|cell-cell signaling (GO:0007267)|compartment pattern specification (GO:0007386)|determination of left/right symmetry (GO:0007368)|heart looping (GO:0001947)|hemopoiesis (GO:0030097)|inner ear development (GO:0048839)|left/right axis specification (GO:0070986)|loop of Henle development (GO:0072070)|negative regulation of auditory receptor cell differentiation (GO:0045608)|negative regulation of interleukin-10 production (GO:0032693)|negative regulation of myeloid cell differentiation (GO:0045638)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proximal tubule development (GO:0072014)|regulation of cell adhesion (GO:0030155)|somite specification (GO:0001757)	cytoplasmic vesicle (GO:0031410)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|Notch binding (GO:0005112)			NS(2)|breast(1)|endometrium(1)|large_intestine(7)|lung(17)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	33		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;6.71e-23)|BRCA - Breast invasive adenocarcinoma(81;4.81e-06)|GBM - Glioblastoma multiforme(31;0.0584)		CCAGCAGCCCCTTCTTGTTGAC	0.703																																						ENST00000366756.3																			0				NS(2)|breast(1)|endometrium(1)|large_intestine(7)|lung(17)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	33						c.(106-108)aggfs		delta-like 1 (Drosophila)																																				SO:0001589	frameshift_variant	28514				cell communication|cell fate determination|hemopoiesis|Notch receptor processing|Notch signaling pathway|regulation of cell adhesion	extracellular region|integral to plasma membrane	calcium ion binding|Notch binding	g.chr6:170598843_170598844insA	AF003522	CCDS5313.1	6q13-q22.33	2008-07-28	2001-12-03		ENSG00000198719	ENSG00000198719			2908	protein-coding gene	gene with protein product		606582	"delta (Drosophila)-like 1"				Standard	NM_005618		Approved		uc003qxm.3	O00548	OTTHUMG00000016078	ENST00000366756.3:c.107_108insT	6.37:g.170598843_170598844insA	ENSP00000355718:p.Lys36fs						p.R36fs	NM_005618.3	NP_005609.3	O00548	DLL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;6.71e-23)|BRCA - Breast invasive adenocarcinoma(81;4.81e-06)|GBM - Glioblastoma multiforme(31;0.0584)	2	440_441	-		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)	36					B2RAK7|B5M0B3|Q9NU41|Q9UJV2	Frame_Shift_Ins	INS	ENST00000366756.3	37	c.107_108insT	CCDS5313.1																																																																																				0.703	DLL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043254.1			2	4						2	4	---	---	---	---	A	170598844	-	A	170598843	7	5	254	1	0	1	1	0	0	0	0	0	4566	680	24	0	2103	0	DLL1	6	170598843	Frame_Shift_Ins	INS	-	TCGA-HC-A8D0-01A-11D-A364-08	2844415	170598843	516224	17	11900											
SDK1	221935	broad.mit.edu	37	chr7	4088996	4088996	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acagtgcccaccgcgcccccGcagaacgtgcagacggaagc	10	2	12	17	5	0	2	0	0	0	2	0	3	0	3	4	1	4	2	4	1	2	0	rs146784103	byFrequency	TCGA-HC-A8D0-01A-11D-A364-08	TCGA-HC-A8D0-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d04bc84-6f8d-4ff3-8044-44e342859531	15291a8d-12a8-4092-914c-995dbb9b607b	g.chr7:4088996G>A	ENST00000404826.2	+	18	2758	c.2619G>A	c.(2617-2619)ccG>ccA	p.P873P	SDK1_ENST00000389531.3_Silent_p.P873P	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	873	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		CCGCGCCCCCGCAGAACGTGC	0.567																																						ENST00000404826.2																			0				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153						c.(2617-2619)ccG>ccA		sidekick cell adhesion molecule 1		G		1,4405	2.1+/-5.4	0,1,2202	68	61	63		2619	-10.3	0.1	7	dbSNP_134	63	0,8600		0,0,4300	no	coding-synonymous	SDK1	NM_152744.3		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		873/2214	4088996	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	221935				cell adhesion	integral to membrane		g.chr7:4088996G>A	AK074077	CCDS34590.1	7p22.3	2013-02-11	2011-12-09		ENSG00000146555	ENSG00000146555		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	19307	protein-coding gene	gene with protein product		607216	"sidekick homolog 1 (chicken)", "sidekick homolog 1, cell adhesion molecule (chicken)"			12230981, 17307840, 15213259	Standard	NM_001079653		Approved	FLJ31425	uc003smx.3	Q7Z5N4	OTTHUMG00000151733	ENST00000404826.2:c.2619G>A	7.37:g.4088996G>A						SDK1_ENST00000389531.3_Silent_p.P873P	p.P873P	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)	18	2758	+		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)	873			Fibronectin type-III 3.		Q8TEN9|Q8TEP5|Q96N44	Silent	SNP	ENST00000404826.2	37	c.2619G>A	CCDS34590.1																																																																																				0.567	SDK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323702.1	NM_152744		3	32	0	0	0	1	0	3	32					A	4088996	G	A	4088996	2	1	254	1	0	0	0	0	0	0	0	1	13968	1074	38	1		1	SDK1	7	4088996	Silent	SNP	G	TCGA-HC-A8D0-01A-11D-A364-08		4088996	155049667	18	11901											
CACNA2D1	781	broad.mit.edu	37	chr7	81667507	81667507	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ttatttcttacatttgcttgGacaaggtgctgaaaacagct	11	15	8	7	0	1	1	0	1	1	0	1	2	1	2	0	2	5	3	0	2	5	5			TCGA-HC-A8D0-01A-11D-A364-08	TCGA-HC-A8D0-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d04bc84-6f8d-4ff3-8044-44e342859531	15291a8d-12a8-4092-914c-995dbb9b607b	g.chr7:81667507G>A	ENST00000356253.5	-	11	1179	c.924C>T	c.(922-924)gtC>gtT	p.V308V	CACNA2D1_ENST00000356860.3_Silent_p.V308V			P54289	CA2D1_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 1	308	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				calcium ion transport (GO:0006816)|regulation of calcium ion transport (GO:0051924)	extracellular vesicular exosome (GO:0070062)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)|voltage-gated calcium channel complex (GO:0005891)	metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	81					Amlodipine(DB00381)|Cyclandelate(DB04838)|Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)	CATTTGCTTGGACAAGGTGCT	0.313																																						ENST00000356860.3																			0				breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	81						c.(922-924)gtC>gtT		calcium channel, voltage-dependent, alpha 2/delta subunit 1	Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)						118	117	118					7																	81667507		2203	4300	6503	SO:0001819	synonymous_variant	781					voltage-gated calcium channel complex	metal ion binding	g.chr7:81667507G>A	M76559	CCDS5598.1	7q21-q22	2014-09-17			ENSG00000153956	ENSG00000153956		"Calcium channel subunits"	1399	protein-coding gene	gene with protein product		114204	"long intergenic non-protein coding RNA 1112"	CACNL2A, CACNA2, MHS3, LINC01112		8188232	Standard	XM_005250570		Approved	lncRNA-N3	uc003uhr.1	P54289	OTTHUMG00000023622	ENST00000356253.5:c.924C>T	7.37:g.81667507G>A						CACNA2D1_ENST00000356253.5_Silent_p.V308V	p.V308V	NM_000722.2	NP_000713.2	P54289	CA2D1_HUMAN			11	1262	-			308			VWFA.		Q17R45|Q9UD80|Q9UD81|Q9UD82	Silent	SNP	ENST00000356253.5	37	c.924C>T																																																																																					0.313	CACNA2D1-201	KNOWN	basic	protein_coding	protein_coding				4	86	0	0	0	1	0	4	86					A	81667507	G	A	81667507	2	1	254	1	0	0	0	0	0	0	0	1	2548	1161	41	3		3	CACNA2D1	7	81667507	Silent	SNP	G	TCGA-HC-A8D0-01A-11D-A364-08	77578511	81667507	77471156	19	11902											
MUC17	140453	broad.mit.edu	37	chr7	100680623	100680623	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ctgctgatggtaccagcatgCcaaccccagcttatagtgaa	11	9	9	12	0	0	2	0	2	0	0	0	2	0	2	4	1	6	4	4	1	5	3			TCGA-HC-A8D0-01A-11D-A364-08	TCGA-HC-A8D0-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d04bc84-6f8d-4ff3-8044-44e342859531	15291a8d-12a8-4092-914c-995dbb9b607b	g.chr7:100680623C>T	ENST00000306151.4	+	3	5990	c.5926C>T	c.(5926-5928)Cca>Tca	p.P1976S		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1976	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					TACCAGCATGCCAACCCCAGC	0.498																																						ENST00000306151.4																			0				NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343						c.(5926-5928)Cca>Tca		mucin 17, cell surface associated							276	267	270					7																	100680623		2203	4300	6503	SO:0001583	missense	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100680623C>T	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"Mucins"	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.5926C>T	7.37:g.100680623C>T	ENSP00000302716:p.Pro1976Ser						p.P1976S	NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN			3	5990	+	Lung NSC(181;0.136)|all_lung(186;0.182)		1976			59 X approximate tandem repeats.|Ser-rich.		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	c.5926C>T	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	C	2.947	-0.217494	0.06101	.	.	ENSG00000169876	ENST00000306151	T	0.03152	4.03	0.512	0.512	0.16994	.	.	.	.	.	T	0.04497	0.0123	N	0.08118	0	0.09310	N	1	D	0.76494	0.999	D	0.68621	0.959	T	0.48647	-0.9017	9	0.16420	T	0.52	.	6.9006	0.24281	0.0:0.9998:0.0:2.0E-4	.	1976	Q685J3	MUC17_HUMAN	S	1976	ENSP00000302716:P1976S	ENSP00000302716:P1976S	P	+	1	0	MUC17	100467343	0.000000	0.05858	0.007000	0.13788	0.006000	0.05464	-1.589000	0.02104	0.551000	0.29008	0.134000	0.15878	CCA		0.498	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		6	362	0	0	0	1	0	6	362					T	100680623	C	T	100680623	3	4	254	1	0	0	0	0	1	0	0	0	9974	739	26	3	5936	3	MUC17	7	100680623	Missense_Mutation	SNP	C	TCGA-HC-A8D0-01A-11D-A364-08	19013116	100680623	58458040	20	11903											
PPP1R3A	5506	broad.mit.edu	37	chr7	113519011	113519011	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgatcagctagagaagacagTtcacagcacactgtttcttg	12	11	9	9	0	3	3	2	1	1	2	3	4	3	3	0	0	2	4	0	0	2	4			TCGA-HC-A8D0-01A-11D-A364-08	TCGA-HC-A8D0-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d04bc84-6f8d-4ff3-8044-44e342859531	15291a8d-12a8-4092-914c-995dbb9b607b	g.chr7:113519011T>C	ENST00000284601.3	-	4	2204	c.2136A>G	c.(2134-2136)gaA>gaG	p.E712E		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	712					glycogen metabolic process (GO:0005977)	integral component of membrane (GO:0016021)				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						GAGAAGACAGTTCACAGCACA	0.403																																						ENST00000284601.3																			0				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						c.(2134-2136)gaA>gaG		protein phosphatase 1, regulatory subunit 3A							203	197	199					7																	113519011		2203	4300	6503	SO:0001819	synonymous_variant	5506				glycogen metabolic process	integral to membrane		g.chr7:113519011T>C	AF024578	CCDS5759.1	7q31.1	2012-04-17	2011-10-04	2001-07-02	ENSG00000154415	ENSG00000154415	3.1.3.16	"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	9291	protein-coding gene	gene with protein product	"glycogen-associated regulatory subunit of protein phosphatase-1", "protein phosphatase 1 regulatory subunit GM"	600917	"protein phosphatase 1, regulatory (inhibitor) subunit 3A (glycogen and sarcoplasmic reticulum binding subunit, skeletal muscle)", "protein phosphatase 1, regulatory (inhibitor) subunit 3A"	PPP1R3		7926294	Standard	NM_002711		Approved	GM	uc010ljy.1	Q16821	OTTHUMG00000156944	ENST00000284601.3:c.2136A>G	7.37:g.113519011T>C							p.E712E	NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN			4	2204	-			712					A0AVQ2|A4D0T6|O43476|Q75LN8|Q7KYM8|Q86UI6	Silent	SNP	ENST00000284601.3	37	c.2136A>G	CCDS5759.1																																																																																				0.403	PPP1R3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346724.1	NM_002711		24	156	0	0	0	1	0	24	156					C	113519011	T	C	113519011	2	2	254	1	0	0	0	0	0	0	0	1	12371	1722	60	4		4	PPP1R3A	7	113519011	Silent	SNP	T	TCGA-HC-A8D0-01A-11D-A364-08	12838388	113519011	45619652	21	11904											
ADCK2	90956	broad.mit.edu	37	chr7	140373323	140373323	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtgagggggcccctgacgttCtgagtcggcgaagggtccgc	5	7	18	11	4	1	3	0	3	1	0	3	4	2	3	3	4	0	1	3	4	1	1			TCGA-HC-A8D0-01A-11D-A364-08	TCGA-HC-A8D0-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d04bc84-6f8d-4ff3-8044-44e342859531	15291a8d-12a8-4092-914c-995dbb9b607b	g.chr7:140373323C>T	ENST00000072869.4	+	1	371	c.193C>T	c.(193-195)Ctg>Ttg	p.L65L	ADCK2_ENST00000476491.1_Silent_p.L65L	NM_052853.3	NP_443085.2	Q7Z695	ADCK2_HUMAN	aarF domain containing kinase 2	65						integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			cervix(1)|kidney(2)|large_intestine(2)|lung(5)|prostate(1)|skin(4)	15	Melanoma(164;0.00956)					CCCTGACGTTCTGAGTCGGCG	0.726																																						ENST00000072869.4																			0				cervix(1)|kidney(2)|large_intestine(2)|lung(5)|prostate(1)|skin(4)	15						c.(193-195)Ctg>Ttg		aarF domain containing kinase 2							14	16	16					7																	140373323		2189	4279	6468	SO:0001819	synonymous_variant	90956					integral to membrane	ATP binding|protein serine/threonine kinase activity	g.chr7:140373323C>T	AF131745	CCDS5861.1	7q34	2003-07-21			ENSG00000133597	ENSG00000133597			19039	protein-coding gene	gene with protein product							Standard	NM_052853		Approved	MGC20727	uc003vvy.1	Q7Z695	OTTHUMG00000157409	ENST00000072869.4:c.193C>T	7.37:g.140373323C>T						ADCK2_ENST00000476491.1_Silent_p.L65L	p.L65L	NM_052853.3	NP_443085.2	Q7Z695	ADCK2_HUMAN			1	371	+	Melanoma(164;0.00956)		65					Q96CN6|Q9Y6T5	Silent	SNP	ENST00000072869.4	37	c.193C>T	CCDS5861.1																																																																																				0.726	ADCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348734.1	NM_052853		4	16	0	0	0	1	0	4	16					T	140373323	C	T	140373323	2	4	254	1	0	0	0	0	0	0	0	1	289	912	32	3		3	ADCK2	7	140373323	Silent	SNP	C	TCGA-HC-A8D0-01A-11D-A364-08	26854312	140373323	18765340	22	11905											
CNTNAP2	26047	broad.mit.edu	37	chr7	146829413	146829413	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tacaagttacctggaggtgcCcggacggcttaaccaggacc	10	7	12	12	2	0	0	0	0	0	0	0	3	0	3	4	5	4	2	4	5	4	3			TCGA-HC-A8D0-01A-11D-A364-08	TCGA-HC-A8D0-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d04bc84-6f8d-4ff3-8044-44e342859531	15291a8d-12a8-4092-914c-995dbb9b607b	g.chr7:146829413C>T	ENST00000361727.3	+	8	1676	c.1160C>T	c.(1159-1161)cCc>cTc	p.P387L		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	387					adult behavior (GO:0030534)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cellular protein localization (GO:0034613)|cerebral cortex development (GO:0021987)|clustering of voltage-gated potassium channels (GO:0045163)|learning (GO:0007612)|limbic system development (GO:0021761)|neuron projection development (GO:0031175)|neuron recognition (GO:0008038)|protein localization to juxtaparanode region of axon (GO:0071205)|social behavior (GO:0035176)|striatum development (GO:0021756)|superior temporal gyrus development (GO:0071109)|thalamus development (GO:0021794)|transmission of nerve impulse (GO:0019226)|vocalization behavior (GO:0071625)	axolemma (GO:0030673)|axon (GO:0030424)|cell surface (GO:0009986)|dendrite (GO:0030425)|early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|juxtaparanode region of axon (GO:0044224)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|voltage-gated potassium channel complex (GO:0008076)	enzyme binding (GO:0019899)			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			CTGGAGGTGCCCGGACGGCTT	0.478										HNSCC(39;0.1)																												ENST00000361727.3																			0				NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188						c.(1159-1161)cCc>cTc		contactin associated protein-like 2							126	118	121					7																	146829413		2203	4300	6503	SO:0001583	missense	26047				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding	g.chr7:146829413C>T	AF193613	CCDS5889.1	7q35	2008-02-04			ENSG00000174469	ENSG00000174469			13830	protein-coding gene	gene with protein product		604569				10624965, 10048485	Standard	NM_014141		Approved	Caspr2, KIAA0868, NRXN4	uc003weu.2	Q9UHC6	OTTHUMG00000152743	ENST00000361727.3:c.1160C>T	7.37:g.146829413C>T	ENSP00000354778:p.Pro387Leu	HNSCC(39;0.1)					p.P387L	NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0319)		8	1676	+	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	387					D3DWG2|Q14DG2|Q52LV1|Q5H9Q7|Q9UQ12	Missense_Mutation	SNP	ENST00000361727.3	37	c.1160C>T	CCDS5889.1	.	.	.	.	.	.	.	.	.	.	C	14.47	2.543774	0.45280	.	.	ENSG00000174469	ENST00000361727	T	0.80653	-1.4	5.7	4.63	0.57726	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (1);	0.000000	0.64402	D	0.000010	T	0.80999	0.4732	M	0.84326	2.69	0.80722	D	1	B	0.26002	0.139	B	0.29176	0.099	T	0.80919	-0.1167	10	0.66056	D	0.02	.	9.8543	0.41077	0.0:0.7676:0.1456:0.0868	.	387	Q9UHC6	CNTP2_HUMAN	L	387	ENSP00000354778:P387L	ENSP00000354778:P387L	P	+	2	0	CNTNAP2	146460346	0.990000	0.36364	0.541000	0.28102	0.939000	0.58152	2.935000	0.48963	2.686000	0.91538	0.591000	0.81541	CCC		0.478	CNTNAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327668.1			27	82	0	0	0	1	0	27	82					T	146829413	C	T	146829413	3	4	254	1	0	0	0	0	1	0	0	0	3647	623	22	3	1190	3	CNTNAP2	7	146829413	Missense_Mutation	SNP	C	TCGA-HC-A8D0-01A-11D-A364-08	6456090	146829413	12309250	23	11906											
OR51L1	119682	broad.mit.edu	37	chr11	5020428	5020428	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tccatcttagcagtgaatgaCctggggatgtccctgtctac	8	12	10	11	0	2	2	0	2	2	0	4	3	4	3	3	2	2	1	3	2	3	2			TCGA-HC-A8D0-01A-11D-A364-08	TCGA-HC-A8D0-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d04bc84-6f8d-4ff3-8044-44e342859531	15291a8d-12a8-4092-914c-995dbb9b607b	g.chr11:5020428C>A	ENST00000321543.1	+	1	216	c.216C>A	c.(214-216)gaC>gaA	p.D72E		NM_001004755.1	NP_001004755.1	Q8NGJ5	O51L1_HUMAN	olfactory receptor, family 51, subfamily L, member 1	72						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(19)|skin(2)|stomach(1)	31		Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086)		Epithelial(150;1.75e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		CAGTGAATGACCTGGGGATGT	0.453																																						ENST00000321543.1																			0				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(19)|skin(2)|stomach(1)	31						c.(214-216)gaC>gaA		olfactory receptor, family 51, subfamily L, member 1							198	169	179					11																	5020428		2201	4298	6499	SO:0001583	missense	119682				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5020428C>A	AB065799	CCDS31369.1	11p15.4	2012-08-09			ENSG00000176798	ENSG00000176798		"GPCR / Class A : Olfactory receptors"	14759	protein-coding gene	gene with protein product							Standard	NM_001004755		Approved		uc010qyu.2	Q8NGJ5	OTTHUMG00000066605	ENST00000321543.1:c.216C>A	11.37:g.5020428C>A	ENSP00000322156:p.Asp72Glu						p.D72E	NM_001004755.1	NP_001004755.1	Q8NGJ5	O51L1_HUMAN		Epithelial(150;1.75e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)	1	216	+		Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086)	72					Q6IFE5	Missense_Mutation	SNP	ENST00000321543.1	37	c.216C>A	CCDS31369.1	.	.	.	.	.	.	.	.	.	.	C	14.38	2.518973	0.44866	.	.	ENSG00000176798	ENST00000321543	T	0.66460	-0.21	5.57	3.63	0.41609	GPCR, rhodopsin-like superfamily (1);	0.165824	0.29080	N	0.013215	T	0.78824	0.4344	M	0.78916	2.43	0.22803	N	0.998711	D	0.64830	0.994	D	0.72625	0.978	T	0.68191	-0.5474	10	0.51188	T	0.08	.	9.7796	0.40640	0.1395:0.7862:0.0:0.0743	.	72	Q8NGJ5	O51L1_HUMAN	E	72	ENSP00000322156:D72E	ENSP00000322156:D72E	D	+	3	2	OR51L1	4977004	0.858000	0.29795	1.000000	0.80357	0.400000	0.30750	1.191000	0.32138	1.548000	0.49413	0.650000	0.86243	GAC		0.453	OR51L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142812.1	NM_001004755		4	148	1	0	0.150653	1	0.153496	4	148					A	5020428	C	A	5020428	3	1	254	1	0	0	0	0	1	0	0	0	11102	506	18	5	218	5	OR51L1	11	5020428	Missense_Mutation	SNP	C	TCGA-HC-A8D0-01A-11D-A364-08		5020428	129986088	24	11907											
STK33	65975	broad.mit.edu	37	chr11	8435222	8435222	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aatacattggttggtctcacCgaagaaagtttattgcccta	12	13	8	8	1	1	1	1	0	1	1	2	2	1	1	2	2	2	2	2	2	6	7			TCGA-HC-A8D0-01A-11D-A364-08	TCGA-HC-A8D0-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d04bc84-6f8d-4ff3-8044-44e342859531	15291a8d-12a8-4092-914c-995dbb9b607b	g.chr11:8435222C>T	ENST00000447869.1	-	11	2082	c.1164G>A	c.(1162-1164)tcG>tcA	p.S388S	STK33_ENST00000396672.1_Silent_p.S388S|STK33_ENST00000534493.1_Silent_p.S347S|STK33_ENST00000358872.3_Silent_p.S201S|STK33_ENST00000315204.1_Silent_p.S388S|STK33_ENST00000396673.1_Intron|STK33_ENST00000473980.1_5'UTR			Q9BYT3	STK33_HUMAN	serine/threonine kinase 33	388					protein autophosphorylation (GO:0046777)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|skin(3)	23				Epithelial(150;2.13e-06)|BRCA - Breast invasive adenocarcinoma(625;0.239)		TTGGTCTCACCGAAGAAAGTT	0.368																																						ENST00000447869.1																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|skin(3)	23						c.(1162-1164)tcG>tcA		serine/threonine kinase 33							148	133	138					11																	8435222		2201	4296	6497	SO:0001819	synonymous_variant	65975					Golgi apparatus|nucleus|perinuclear region of cytoplasm	ATP binding|protein serine/threonine kinase activity	g.chr11:8435222C>T	AJ303380	CCDS7789.1, CCDS73253.1, CCDS73254.1	11p15.3	2010-03-10			ENSG00000130413	ENSG00000130413			14568	protein-coding gene	gene with protein product		607670				11738831	Standard	NM_030906		Approved		uc001mgj.1	Q9BYT3	OTTHUMG00000140275	ENST00000447869.1:c.1164G>A	11.37:g.8435222C>T						STK33_ENST00000534493.1_Silent_p.S347S|STK33_ENST00000396672.1_Silent_p.S388S|STK33_ENST00000396673.1_Intron|STK33_ENST00000358872.3_Silent_p.S201S|STK33_ENST00000315204.1_Silent_p.S388S|STK33_ENST00000473980.1_5'UTR	p.S388S			Q9BYT3	STK33_HUMAN		Epithelial(150;2.13e-06)|BRCA - Breast invasive adenocarcinoma(625;0.239)	11	2082	-			388					Q658S6|Q8NEF5	Silent	SNP	ENST00000447869.1	37	c.1164G>A	CCDS7789.1																																																																																				0.368	STK33-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276819.2	NM_030906		6	58	0	0	0	1	0	6	58					T	8435222	C	T	8435222	2	4	254	1	0	0	0	0	0	0	0	1	15299	639	23	2		2	STK33	11	8435222	Silent	SNP	C	TCGA-HC-A8D0-01A-11D-A364-08	3414794	8435222	126571294	25	11908											
MRGPRX1	259249	broad.mit.edu	37	chr11	18956230	18956230	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgacaagggaaacgatgcaCgtcagcaccgtgaggctcaa	13	4	12	12	4	2	1	2	1	0	0	2	4	2	2	2	2	3	3	2	2	3	0	rs144203919	byFrequency	TCGA-HC-A8D0-01A-11D-A364-08	TCGA-HC-A8D0-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d04bc84-6f8d-4ff3-8044-44e342859531	15291a8d-12a8-4092-914c-995dbb9b607b	g.chr11:18956230C>T	ENST00000302797.3	-	1	326	c.102G>A	c.(100-102)acG>acA	p.T34T	MRGPRX1_ENST00000526914.1_5'UTR|RP11-583F24.8_ENST00000528646.1_RNA	NM_147199.3	NP_671732.3	Q96LB2	MRGX1_HUMAN	MAS-related GPR, member X1	34					acute-phase response (GO:0006953)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|pancreas(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						AAACGATGCACGTCAGCACCG	0.547													C|||	4	0.000798722	0	0.0029	5008	,	,		26258	0		0.002	False		,,,				2504	0					ENST00000302797.3																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|pancreas(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						c.(100-102)acG>acA		MAS-related GPR, member X1		C		1,4387		0,1,2193	218	205	209		102	-2.1	0	11	dbSNP_134	209	29,8543		0,29,4257	no	coding-synonymous	MRGPRX1	NM_147199.3		0,30,6450	TT,TC,CC		0.3383,0.0228,0.2315		34/323	18956230	30,12930	2194	4286	6480	SO:0001819	synonymous_variant	259249				acute-phase response	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr11:18956230C>T		CCDS7846.1	11p15.1	2013-10-10			ENSG00000170255	ENSG00000170255		"GPCR / Class A : Orphans"	17962	protein-coding gene	gene with protein product		607227				11551509	Standard	NM_147199		Approved	MRGX1	uc001mpg.3	Q96LB2	OTTHUMG00000162655	ENST00000302797.3:c.102G>A	11.37:g.18956230C>T						MRGPRX1_ENST00000526914.1_5'UTR	p.T34T	NM_147199.3	NP_671732.3	Q96LB2	MRGX1_HUMAN			1	326	-			34					Q4V9L2|Q8TDD8|Q8TDD9	Silent	SNP	ENST00000302797.3	37	c.102G>A	CCDS7846.1																																																																																				0.547	MRGPRX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369913.1	NM_147199		27	174	0	0	0	1	0	27	174					T	18956230	C	T	18956230	2	4	254	1	0	0	0	0	0	0	0	1	9766	523	19	1		1	MRGPRX1	11	18956230	Silent	SNP	C	TCGA-HC-A8D0-01A-11D-A364-08	10521008	18956230	116050286	26	11909											
OR5A1	219982	broad.mit.edu	37	chr11	59211157	59211157	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atatttaggcttcacttttgCggacccaacatcatcaacca	12	12	5	12	1	3	0	3	0	0	0	3	1	3	1	2	2	3	1	2	2	4	6	rs150991894	byFrequency	TCGA-HC-A8D0-01A-11D-A364-08	TCGA-HC-A8D0-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d04bc84-6f8d-4ff3-8044-44e342859531	15291a8d-12a8-4092-914c-995dbb9b607b	g.chr11:59211157C>T	ENST00000302030.2	+	1	541	c.516C>T	c.(514-516)tgC>tgT	p.C172C		NM_001004728.1	NP_001004728.1	Q8NGJ0	OR5A1_HUMAN	olfactory receptor, family 5, subfamily A, member 1	172						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.C172C(2)		central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	28						TTCACTTTTGCGGACCCAACA	0.547																																						ENST00000302030.2																			2	Substitution - coding silent(2)	p.C172C(2)	prostate(1)|endometrium(1)	central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	28						c.(514-516)tgC>tgT		olfactory receptor, family 5, subfamily A, member 1		C		0,4402		0,0,2201	261	254	256		516	-5.9	0.4	11	dbSNP_134	256	3,8587	3.0+/-9.4	0,3,4292	no	coding-synonymous	OR5A1	NM_001004728.1		0,3,6493	TT,TC,CC		0.0349,0.0,0.0231		172/316	59211157	3,12989	2201	4295	6496	SO:0001819	synonymous_variant	219982				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:59211157C>T	AB065804	CCDS31561.1	11q12.1	2012-08-09			ENSG00000172320	ENSG00000172320		"GPCR / Class A : Olfactory receptors"	8319	protein-coding gene	gene with protein product				OR5A1P			Standard	NM_001004728		Approved	OST181	uc001nnx.1	Q8NGJ0	OTTHUMG00000167339	ENST00000302030.2:c.516C>T	11.37:g.59211157C>T							p.C172C	NM_001004728.1	NP_001004728.1	Q8NGJ0	OR5A1_HUMAN			1	541	+			172					B9EH58|Q6IFF2|Q96RB1	Silent	SNP	ENST00000302030.2	37	c.516C>T	CCDS31561.1																																																																																				0.547	OR5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394233.1	NM_001004728		4	253	0	0	0	1	0	4	253					T	59211157	C	T	59211157	2	4	254	1	0	0	0	0	0	0	0	1	11139	776	27	1		1	OR5A1	11	59211157	Silent	SNP	C	TCGA-HC-A8D0-01A-11D-A364-08	40254927	59211157	75795359	27	11910											
MPHOSPH9	10198	broad.mit.edu	37	chr12	123661278	123661278	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aattctagaattatgacgaaGgcttaacatattttcatgtt	14	16	6	5	1	2	2	1	1	1	1	2	3	2	2	0	1	1	2	0	1	7	8			TCGA-HC-A8D0-01A-11D-A364-08	TCGA-HC-A8D0-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d04bc84-6f8d-4ff3-8044-44e342859531	15291a8d-12a8-4092-914c-995dbb9b607b	g.chr12:123661278G>A	ENST00000606320.1	-	16	2619	c.2413C>T	c.(2413-2415)Ctt>Ttt	p.L805F	MPHOSPH9_ENST00000392425.3_Missense_Mutation_p.L653F|MPHOSPH9_ENST00000541076.2_Missense_Mutation_p.L775F|MPHOSPH9_ENST00000302349.5_Missense_Mutation_p.L653F			Q99550	MPP9_HUMAN	M-phase phosphoprotein 9	805						centriole (GO:0005814)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|plasma membrane (GO:0005886)				NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(18)|prostate(2)|skin(1)	33	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000182)|Epithelial(86;0.00046)|BRCA - Breast invasive adenocarcinoma(302;0.169)		TTATGACGAAGGCTTAACATA	0.323																																						ENST00000606320.1																			0				NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(18)|prostate(2)|skin(1)	33						c.(2413-2415)Ctt>Ttt		M-phase phosphoprotein 9							123	118	120					12																	123661278		2203	4300	6503	SO:0001583	missense	10198				M phase of mitotic cell cycle	centriole|Golgi membrane		g.chr12:123661278G>A	X98258	CCDS9243.1, CCDS9243.2	12q24	2008-03-03			ENSG00000051825	ENSG00000051825			7215	protein-coding gene	gene with protein product		605501				8885239	Standard	NM_022782		Approved	MPP9	uc001uel.3	Q99550	OTTHUMG00000168849	ENST00000606320.1:c.2413C>T	12.37:g.123661278G>A	ENSP00000475489:p.Leu805Phe					MPHOSPH9_ENST00000302349.5_Missense_Mutation_p.L653F|MPHOSPH9_ENST00000392425.3_Missense_Mutation_p.L653F|MPHOSPH9_ENST00000541076.2_Missense_Mutation_p.L775F	p.L805F			Q99550	MPP9_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000182)|Epithelial(86;0.00046)|BRCA - Breast invasive adenocarcinoma(302;0.169)	16	2619	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		653					A1L486|A6NEE2|B3KR87|Q9H976|U3KQ28	Missense_Mutation	SNP	ENST00000606320.1	37	c.2413C>T		.	.	.	.	.	.	.	.	.	.	G	13.72	2.322708	0.41096	.	.	ENSG00000051825	ENST00000302349;ENST00000541076	T;T	0.35789	1.29;1.3	5.0	4.1	0.47936	.	0.381193	0.24920	N	0.034560	T	0.36552	0.0971	M	0.63843	1.955	0.43628	D	0.996018	B	0.27498	0.18	B	0.33254	0.16	T	0.21348	-1.0248	10	0.51188	T	0.08	-5.3398	8.1223	0.30978	0.0856:0.1607:0.7537:0.0	.	653	Q99550	MPP9_HUMAN	F	653	ENSP00000303597:L653F;ENSP00000445859:L653F	ENSP00000303597:L653F	L	-	1	0	MPHOSPH9	122227231	1.000000	0.71417	1.000000	0.80357	0.933000	0.57130	1.133000	0.31430	1.073000	0.40885	0.491000	0.48974	CTT		0.323	MPHOSPH9-030	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000471390.2			8	66	0	0	0	1	0	8	66					A	123661278	G	A	123661278	3	1	254	1	0	0	0	0	1	0	0	0	9728	1000	35	3	1174	3	MPHOSPH9	12	123661278	Missense_Mutation	SNP	G	TCGA-HC-A8D0-01A-11D-A364-08		123661278	10190617	28	11911											
POLE	5426	broad.mit.edu	37	chr12	133252018	133252037	+	Frame_Shift_Del	DEL	TGTACTCCCCCTGGCTGTCC	TGTACTCCCCCTGGCTGTCC	-																															gtggatgcactggggcgcctTgtactccccctggctgtcct																								rs546499094|rs371717068		TCGA-HC-A8D0-01A-11D-A364-08	TCGA-HC-A8D0-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d04bc84-6f8d-4ff3-8044-44e342859531	15291a8d-12a8-4092-914c-995dbb9b607b	g.chr12:133252018_133252037delTGTACTCCCCCTGGCTGTCC	ENST00000320574.5	-	12	1216_1235	c.1173_1192delGGACAGCCAGGGGGAGTACA	c.(1171-1194)aaggacagccagggggagtacaagfs	p.KDSQGEYK391fs	POLE_ENST00000535270.1_Frame_Shift_Del_p.KDSQGEYK364fs	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit	391					base-excision repair, gap-filling (GO:0006287)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA synthesis involved in DNA repair (GO:0000731)|G1/S transition of mitotic cell cycle (GO:0000082)|in utero embryonic development (GO:0001701)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	cytoplasm (GO:0005737)|epsilon DNA polymerase complex (GO:0008622)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	4 iron, 4 sulfur cluster binding (GO:0051539)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|nucleotide binding (GO:0000166)|zinc ion binding (GO:0008270)			NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)	Cladribine(DB00242)	TGGGGCGCCTTGTACTCCCCCTGGCTGTCCTTCTGGAAGC	0.609								DNA polymerases (catalytic subunits)																														ENST00000320574.5																			0				NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89						c.(1171-1194)aaagfs	DNA polymerases (catalytic subunits)	polymerase (DNA directed), epsilon, catalytic subunit																																				SO:0001589	frameshift_variant	5426				base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding	g.chr12:133252018_133252037delTGTACTCCCCCTGGCTGTCC		CCDS9278.1	12q24.3	2014-09-17	2012-05-18		ENSG00000177084	ENSG00000177084		"DNA polymerases"	9177	protein-coding gene	gene with protein product	"DNA polymerase epsilon catalytic subunit A"	174762	"polymerase (DNA directed), epsilon"			8020968	Standard	NM_006231		Approved	POLE1	uc001uks.1	Q07864	OTTHUMG00000168045	ENST00000320574.5:c.1173_1192delGGACAGCCAGGGGGAGTACA	12.37:g.133252018_133252037delTGTACTCCCCCTGGCTGTCC	ENSP00000322570:p.Lys391fs					POLE_ENST00000535270.1_Frame_Shift_Del_p.KDSQGEYK364fs	p.KDSQGEYK391fs	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)	12	1216_1235	-	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)	391					Q13533|Q86VH9	Frame_Shift_Del	DEL	ENST00000320574.5	37	c.1173_1192delGGACAGCCAGGGGGAGTACA	CCDS9278.1																																																																																				0.609	POLE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397689.2	NM_006231		9	85						9	85	---	---	---	---	-	133252037	TGTACTCCCCCTGGCTGTCC	-	133252018	7	5	254	1	0	1	0	1	0	0	0	0	12196	1821	63	0	5820	0	POLE	12	133252018	Frame_Shift_Del	DEL	TGTACTCCCCCTGGCTGTCC	TCGA-HC-A8D0-01A-11D-A364-08	9590740	133252018	599877	29	11912											
PLA2G4F	255189	broad.mit.edu	37	chr15	42446617	42446617	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggcagggcttggggacgccGtgggcagccacagttgcaca	7	5	18	11	2	0	0	0	0	0	0	0	1	0	1	2	5	2	5	2	5	0	2	rs537149710		TCGA-HC-A8D0-01A-11D-A364-08	TCGA-HC-A8D0-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d04bc84-6f8d-4ff3-8044-44e342859531	15291a8d-12a8-4092-914c-995dbb9b607b	g.chr15:42446617G>A	ENST00000382396.4	-	3	310	c.224C>T	c.(223-225)aCg>aTg	p.T75M	PLA2G4F_ENST00000397272.3_Missense_Mutation_p.T75M			Q68DD2	PA24F_HUMAN	phospholipase A2, group IVF	75	C2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				arachidonic acid secretion (GO:0050482)|cellular response to antibiotic (GO:0071236)|cellular response to organic cyclic compound (GO:0071407)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid catabolic process (GO:0009395)|phospholipid metabolic process (GO:0006644)|prostaglandin biosynthetic process (GO:0001516)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|lysosome (GO:0005764)|ruffle membrane (GO:0032587)|vesicle (GO:0031982)	calcium-dependent phospholipase A2 activity (GO:0047498)|lysophospholipase activity (GO:0004622)|metal ion binding (GO:0046872)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32		all_cancers(109;4.82e-12)|all_epithelial(112;5.64e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091)		GBM - Glioblastoma multiforme(94;8.97e-07)		TGGGGACGCCGTGGGCAGCCA	0.587													G|||	1	0.000199681	0	0	5008	,	,		18245	0.001		0	False		,,,				2504	0					ENST00000397272.3																			0				breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32						c.(223-225)aCg>aTg		phospholipase A2, group IVF							46	40	42					15																	42446617		2203	4299	6502	SO:0001583	missense	255189				phospholipid catabolic process	cytosol|lysosomal membrane	metal ion binding|phospholipase A2 activity	g.chr15:42446617G>A		CCDS32204.1	15q15.1	2008-09-19				ENSG00000168907	3.1.1.4		27396	protein-coding gene	gene with protein product						14702039, 15866882	Standard	NM_213600		Approved	PLA2G4F/Z	uc001zoz.3	Q68DD2		ENST00000382396.4:c.224C>T	15.37:g.42446617G>A	ENSP00000371833:p.Thr75Met					PLA2G4F_ENST00000382396.4_Missense_Mutation_p.T75M	p.T75M	NM_213600.3	NP_998765.3	Q68DD2	PA24F_HUMAN		GBM - Glioblastoma multiforme(94;8.97e-07)	3	315	-		all_cancers(109;4.82e-12)|all_epithelial(112;5.64e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091)	75			C2.		Q6ZMC8	Missense_Mutation	SNP	ENST00000382396.4	37	c.224C>T	CCDS32204.1	.	.	.	.	.	.	.	.	.	.	G	26.7	4.763469	0.89932	.	.	ENSG00000168907	ENST00000290497;ENST00000397272;ENST00000382396;ENST00000357924;ENST00000443825	T;T	0.63913	-0.07;-0.07	5.4	5.4	0.78164	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.084010	0.49305	D	0.000141	D	0.82360	0.5020	M	0.87827	2.91	0.43271	D	0.995221	D	0.89917	1.0	D	0.75484	0.986	D	0.85121	0.0969	10	0.87932	D	0	-11.9275	18.321	0.90238	0.0:0.0:1.0:0.0	.	75	Q68DD2	PA24F_HUMAN	M	71;75;75;75;75	ENSP00000380442:T75M;ENSP00000371833:T75M	ENSP00000290497:T71M	T	-	2	0	PLA2G4F	40233909	1.000000	0.71417	0.959000	0.39883	0.950000	0.60333	7.066000	0.76734	2.717000	0.92951	0.650000	0.86243	ACG		0.587	PLA2G4F-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000420463.1	NM_213600		3	32	0	0	0	1	0	3	32					A	42446617	G	A	42446617	3	1	254	1	0	0	0	0	1	0	0	0	12006	1145	40	1	2397	1	PLA2G4F	15	42446617	Missense_Mutation	SNP	G	TCGA-HC-A8D0-01A-11D-A364-08		42446617	60084775	30	11913											
NOMO1	23420	broad.mit.edu	37	chr16	14972641	14972641	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	ccctgagcggtggcctgtttCgttccaacctcttgacccag	5	11	10	15	2	1	2	0	2	1	0	3	2	2	2	5	2	2	2	5	2	1	3			TCGA-HC-A8D0-01A-11D-A364-08	TCGA-HC-A8D0-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d04bc84-6f8d-4ff3-8044-44e342859531	15291a8d-12a8-4092-914c-995dbb9b607b	g.chr16:14972641C>G	ENST00000287667.7	+	23	2878	c.2707C>G	c.(2707-2709)Cgt>Ggt	p.R903G		NM_014287.3	NP_055102.3	Q15155	NOMO1_HUMAN	NODAL modulator 1	903						integral component of membrane (GO:0016021)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)			endometrium(6)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|skin(2)	30						TGGCCTGTTTCGTTCCAACCT	0.532																																						ENST00000287667.7																			0				endometrium(6)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|skin(2)	30						c.(2707-2709)Cgt>Ggt		NODAL modulator 1							196	196	196					16																	14972641		2197	4300	6497	SO:0001583	missense	23420					integral to membrane	carbohydrate binding|carboxypeptidase activity|protein binding	g.chr16:14972641C>G	X57398	CCDS10556.1	16p13.11	2008-02-05			ENSG00000103512	ENSG00000103512			30060	protein-coding gene	gene with protein product		609157				1310294, 15257293	Standard	NM_014287		Approved	PM5	uc002dcv.3	Q15155	OTTHUMG00000090541	ENST00000287667.7:c.2707C>G	16.37:g.14972641C>G	ENSP00000287667:p.Arg903Gly						p.R903G	NM_014287.3	NP_055102.3	Q15155	NOMO1_HUMAN			23	2878	+			903					P78421|Q8IW21|Q96DG0	Missense_Mutation	SNP	ENST00000287667.7	37	c.2707C>G	CCDS10556.1	.	.	.	.	.	.	.	.	.	.	.	15.97	2.989508	0.53934	.	.	ENSG00000103512	ENST00000287667;ENST00000456867;ENST00000536948	T	0.07021	3.23	3.19	3.19	0.36642	Carbohydrate-binding-like fold (1);	0.000000	0.85682	D	0.000000	T	0.27027	0.0662	M	0.78049	2.395	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.02698	-1.1122	10	0.48119	T	0.1	-9.9103	12.2724	0.54714	0.0:1.0:0.0:0.0	.	903	Q15155	NOMO1_HUMAN	G	903;903;736	ENSP00000287667:R903G	ENSP00000287667:R903G	R	+	1	0	NOMO1	14880142	1.000000	0.71417	0.998000	0.56505	0.413000	0.31143	7.439000	0.80444	1.785000	0.52413	0.398000	0.26397	CGT		0.532	NOMO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207065.1			16	107	0	0	0	1	0	16	107					G	14972641	C	G	14972641	3	3	254	1	0	0	0	0	1	0	0	0	10531	884	31	5	2797	5	NOMO1	16	14972641	Missense_Mutation	SNP	C	TCGA-HC-A8D0-01A-11D-A364-08		14972641	75382112	31	11914											
ZNF276	92822	broad.mit.edu	37	chr16	89789741	89789746	+	In_Frame_Del	DEL	CGGGGC	CGGGGC	-																															catggacatgcggccagctgCggggccctgccccaccttca																								rs146286473|rs141829086		TCGA-HC-A8D0-01A-11D-A364-08	TCGA-HC-A8D0-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d04bc84-6f8d-4ff3-8044-44e342859531	15291a8d-12a8-4092-914c-995dbb9b607b	g.chr16:89789741_89789746delCGGGGC	ENST00000443381.2	+	4	727_732	c.630_635delCGGGGC	c.(628-636)tgcggggcc>tgc	p.GA211del	ZNF276_ENST00000446326.2_In_Frame_Del_p.GP8del|ZNF276_ENST00000289816.5_In_Frame_Del_p.GA136del|ZNF276_ENST00000568064.1_In_Frame_Del_p.GP130del|VPS9D1_ENST00000389386.3_5'Flank	NM_001113525.1	NP_001106997.1	Q8N554	ZN276_HUMAN	zinc finger protein 276	211					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)	14		Lung NSC(15;2.19e-05)|all_lung(18;3.07e-05)|all_hematologic(23;0.0256)		BRCA - Breast invasive adenocarcinoma(80;0.0278)		CGGCCAGCTGCGGGGCCCTGCCCCAC	0.631																																						ENST00000289816.5																			0				cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)	14						c.(403-411)tgc>tg		zinc finger protein 276																																				SO:0001651	inframe_deletion	92822				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:89789741_89789746delCGGGGC	AK026482	CCDS10986.1, CCDS45554.1	16q24.3	2014-02-17	2006-02-10	2006-02-10	ENSG00000158805	ENSG00000158805		"Zinc fingers, C2H2-type"	23330	protein-coding gene	gene with protein product	"centromere protein Z", "zinc finger, AD-type"	608460	"zinc finger protein 276 homolog (mouse)"	ZFP276		10936049, 20813266	Standard	NM_152287		Approved	MGC45417, ZNF477, CENPZ, CENP-Z, ZADT	uc002fos.4	Q8N554	OTTHUMG00000138050	ENST00000443381.2:c.630_635delCGGGGC	16.37:g.89789741_89789746delCGGGGC	ENSP00000415836:p.Gly211_Ala212del					ZNF276_ENST00000443381.2_In_Frame_Del_p.CGA210del|ZNF276_ENST00000446326.2_In_Frame_Del_p.AGP7del|ZNF276_ENST00000568064.1_In_Frame_Del_p.AGP129del	p.CGA135del	NM_152287.3	NP_689500.2	Q8N554	ZN276_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0278)	4	717_722	+		Lung NSC(15;2.19e-05)|all_lung(18;3.07e-05)|all_hematologic(23;0.0256)	210			ZAD.		Q0VGA1|Q2TBE8|Q3B7H7	In_Frame_Del	DEL	ENST00000443381.2	37	c.405_410delCGGGGC	CCDS45554.1																																																																																				0.631	ZNF276-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422517.1	NM_152287		8	41						8	41	---	---	---	---	-	89789746	CGGGGC	-	89789741	7	5	254	1	0	1	0	1	0	0	0	0	17808	776	27	0	644	0	ZNF276	16	89789741	In_Frame_Del	DEL	CGGGGC	TCGA-HC-A8D0-01A-11D-A364-08	74817100	89789741	565012	32	11915											
PHF23	79142	broad.mit.edu	37	chr17	7140074	7140074	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agagctggagccagaggctgGccagtcactttccttaaaag	11	8	12	10	0	1	2	1	0	0	2	2	3	2	3	3	3	2	2	3	3	2	2			TCGA-HC-A8D0-01A-11D-A364-08	TCGA-HC-A8D0-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d04bc84-6f8d-4ff3-8044-44e342859531	15291a8d-12a8-4092-914c-995dbb9b607b	g.chr17:7140074G>A	ENST00000320316.3	-	4	398	c.172C>T	c.(172-174)Cca>Tca	p.P58S	PHF23_ENST00000576955.1_5'UTR|DVL2_ENST00000575458.1_5'Flank|PHF23_ENST00000454255.2_Missense_Mutation_p.P54S|DVL2_ENST00000005340.5_5'Flank|PHF23_ENST00000571362.1_Intron|PHF23_ENST00000570753.1_5'UTR	NM_001284518.1|NM_024297.2	NP_001271447.1|NP_077273.2	Q9BUL5	PHF23_HUMAN	PHD finger protein 23	58							zinc ion binding (GO:0008270)			breast(4)|kidney(2)|large_intestine(6)|lung(3)	15						CCAGAGGCTGGCCAGTCACTT	0.567																																						ENST00000320316.3																			0				breast(4)|kidney(2)|large_intestine(6)|lung(3)	15						c.(172-174)Cca>Tca		PHD finger protein 23							42	47	45					17																	7140074		1911	4141	6052	SO:0001583	missense	79142						zinc ion binding	g.chr17:7140074G>A	AK122791	CCDS42250.1, CCDS67143.1, CCDS67144.1	17p13.1	2014-08-13			ENSG00000040633	ENSG00000040633		"Zinc fingers, PHD-type"	28428	protein-coding gene	gene with protein product		612910					Standard	NM_024297		Approved	MGC2941, FLJ16355	uc002gfa.3	Q9BUL5	OTTHUMG00000177972	ENST00000320316.3:c.172C>T	17.37:g.7140074G>A	ENSP00000322579:p.Pro58Ser					PHF23_ENST00000570753.1_5'UTR|PHF23_ENST00000571362.1_Intron|PHF23_ENST00000576955.1_5'UTR|PHF23_ENST00000454255.2_Missense_Mutation_p.P54S	p.P58S	NM_024297.2	NP_077273.2	Q9BUL5	PHF23_HUMAN			4	398	-			58					A1DZ74|B3KVH8|B4DLK6|D3DTN4|Q8IZK0|Q96HG7|Q9H5X0	Missense_Mutation	SNP	ENST00000320316.3	37	c.172C>T	CCDS42250.1	.	.	.	.	.	.	.	.	.	.	G	12.01	1.808860	0.31961	.	.	ENSG00000040633	ENST00000320316;ENST00000454255;ENST00000043410	T;T	0.34275	1.39;1.37	4.8	4.8	0.61643	.	0.068168	0.64402	D	0.000010	T	0.26991	0.0661	L	0.29908	0.895	0.36235	D	0.852875	B	0.28324	0.207	B	0.27262	0.078	T	0.24154	-1.0168	10	0.30854	T	0.27	-6.3149	13.2294	0.59933	0.0:0.0:1.0:0.0	.	58	Q9BUL5	PHF23_HUMAN	S	58;54;58	ENSP00000322579:P58S;ENSP00000414607:P54S	ENSP00000043410:P58S	P	-	1	0	PHF23	7080798	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	1.796000	0.38794	2.488000	0.83962	0.557000	0.71058	CCA		0.567	PHF23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440047.1	NM_024297		3	40	0	0	0	1	0	3	40					A	7140074	G	A	7140074	3	1	254	1	0	0	0	0	1	0	0	0	11835	1203	42	3	1047	3	PHF23	17	7140074	Missense_Mutation	SNP	G	TCGA-HC-A8D0-01A-11D-A364-08		7140074	74055136	33	11916											
NR1D1	9572	broad.mit.edu	37	chr17	38252764	38252764	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggcagcggttgcgattgatgCggacgatggagcaattctca	9	9	15	8	4	1	1	1	1	1	0	2	5	1	3	0	4	4	3	0	4	1	3	rs201321469		TCGA-HC-A8D0-01A-11D-A364-08	TCGA-HC-A8D0-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d04bc84-6f8d-4ff3-8044-44e342859531	15291a8d-12a8-4092-914c-995dbb9b607b	g.chr17:38252764C>T	ENST00000246672.3	-	4	1166	c.536G>A	c.(535-537)cGc>cAc	p.R179H		NM_021724.3	NP_068370.1	P20393	NR1D1_HUMAN	nuclear receptor subfamily 1, group D, member 1	179	Crucial for activation of GJA1. {ECO:0000250}.				cell differentiation (GO:0030154)|cellular response to lipopolysaccharide (GO:0071222)|circadian regulation of gene expression (GO:0032922)|circadian temperature homeostasis (GO:0060086)|gene expression (GO:0010467)|glycogen biosynthetic process (GO:0005978)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of receptor biosynthetic process (GO:0010871)|negative regulation of toll-like receptor 4 signaling pathway (GO:0034144)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of bile acid biosynthetic process (GO:0070859)|positive regulation of transcription, DNA-templated (GO:0045893)|proteasomal protein catabolic process (GO:0010498)|regulation of cholesterol homeostasis (GO:2000188)|regulation of circadian rhythm (GO:0042752)|regulation of fat cell differentiation (GO:0045598)|regulation of gluconeogenesis by regulation of transcription from RNA polymerase II promoter (GO:0035947)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|regulation of lipid metabolic process (GO:0019216)|regulation of type B pancreatic cell proliferation (GO:0061469)|response to leptin (GO:0044321)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|heme binding (GO:0020037)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|steroid hormone receptor activity (GO:0003707)|transcription corepressor activity (GO:0003714)|transcription corepressor binding (GO:0001222)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(5)|lung(2)|skin(1)|upper_aerodigestive_tract(2)	11	Colorectal(19;0.000442)					GCGATTGATGCGGACGATGGA	0.552																																						ENST00000246672.3																			0				endometrium(1)|large_intestine(5)|lung(2)|skin(1)|upper_aerodigestive_tract(2)	11						c.(535-537)cGc>cAc		nuclear receptor subfamily 1, group D, member 1							145	125	132					17																	38252764		2203	4300	6503	SO:0001583	missense	9572				cellular response to lipopolysaccharide|negative regulation of receptor biosynthetic process|negative regulation of toll-like receptor 4 signaling pathway|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nuclear chromatin|nucleoplasm	sequence-specific DNA binding|steroid hormone receptor activity|transcription corepressor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr17:38252764C>T	X72631	CCDS11361.1	17q11.2	2013-01-16			ENSG00000126368	ENSG00000126368		"Nuclear hormone receptors"	7962	protein-coding gene	gene with protein product		602408		THRAL		1971514	Standard	NM_021724		Approved	ear-1, hRev, Rev-ErbAalpha, THRA1	uc002htz.3	P20393	OTTHUMG00000133327	ENST00000246672.3:c.536G>A	17.37:g.38252764C>T	ENSP00000246672:p.Arg179His						p.R179H	NM_021724.3	NP_068370.1	P20393	NR1D1_HUMAN			4	1166	-	Colorectal(19;0.000442)		179					Q0P5Z4|Q15304	Missense_Mutation	SNP	ENST00000246672.3	37	c.536G>A	CCDS11361.1	.	.	.	.	.	.	.	.	.	.	C	33	5.241725	0.95272	.	.	ENSG00000126368	ENST00000246672	D	0.97598	-4.45	4.75	4.75	0.60458	Zinc finger, NHR/GATA-type (1);Zinc finger, nuclear hormone receptor-type (3);	0.168747	0.36303	N	0.002665	D	0.98308	0.9439	M	0.83118	2.625	0.58432	D	0.999999	D	0.76494	0.999	D	0.68039	0.955	D	0.99316	1.0905	10	0.87932	D	0	.	16.66	0.85238	0.0:1.0:0.0:0.0	.	179	P20393	NR1D1_HUMAN	H	179	ENSP00000246672:R179H	ENSP00000246672:R179H	R	-	2	0	NR1D1	35506290	1.000000	0.71417	0.972000	0.41901	0.841000	0.47740	7.595000	0.82710	2.455000	0.83008	0.313000	0.20887	CGC		0.552	NR1D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257135.1			3	47	0	0	0	1	0	3	47					T	38252764	C	T	38252764	3	4	254	1	0	0	0	0	1	0	0	0	10615	768	27	1	1328	1	NR1D1	17	38252764	Missense_Mutation	SNP	C	TCGA-HC-A8D0-01A-11D-A364-08	31112690	38252764	42942446	34	11917											
GPR142	350383	broad.mit.edu	37	chr17	72368116	72368116	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatcctgctcacggttgacCgctacactgccctgtgccac	6	9	8	18	2	1	1	1	1	0	0	2	1	2	1	5	1	4	3	5	1	1	2	rs149042051	byFrequency	TCGA-HC-A8D0-01A-11D-A364-08	TCGA-HC-A8D0-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d04bc84-6f8d-4ff3-8044-44e342859531	15291a8d-12a8-4092-914c-995dbb9b607b	g.chr17:72368116C>T	ENST00000335666.4	+	4	814	c.766C>T	c.(766-768)Cgc>Tgc	p.R256C		NM_181790.1	NP_861455.1	Q7Z601	GP142_HUMAN	G protein-coupled receptor 142	256						cell junction (GO:0030054)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.R256C(1)		central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(21)|ovary(2)|prostate(1)|skin(4)	35						CACGGTTGACCGCTACACTGC	0.687																																						ENST00000335666.4																			1	Substitution - Missense(1)	p.R256C(1)	endometrium(1)	central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(21)|ovary(2)|prostate(1)|skin(4)	35						c.(766-768)Cgc>Tgc		G protein-coupled receptor 142		C	CYS/ARG	0,4406		0,0,2203	75	57	63		766	5	1	17	dbSNP_134	63	16,8584	11.9+/-42.8	0,16,4284	yes	missense	GPR142	NM_181790.1	180	0,16,6487	TT,TC,CC		0.186,0.0,0.123	probably-damaging	256/463	72368116	16,12990	2203	4300	6503	SO:0001583	missense	350383					cell junction|cytoplasm|integral to membrane	G-protein coupled receptor activity	g.chr17:72368116C>T	AY255622	CCDS11698.1	17q25.2	2012-08-21				ENSG00000257008		"GPCR / Class A : Orphans"	20088	protein-coding gene	gene with protein product		609046				14623098	Standard	NM_181790		Approved	PGR2	uc010wqy.2	Q7Z601		ENST00000335666.4:c.766C>T	17.37:g.72368116C>T	ENSP00000335158:p.Arg256Cys						p.R256C	NM_181790.1	NP_861455.1	Q7Z601	GP142_HUMAN			4	814	+			256					A4CYJ8|Q86SL3	Missense_Mutation	SNP	ENST00000335666.4	37	c.766C>T	CCDS11698.1	.	.	.	.	.	.	.	.	.	.	C	18.33	3.599923	0.66332	0.0	0.00186	ENSG00000257008	ENST00000335666	D	0.97186	-4.28	4.99	4.99	0.66335	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	D	0.98444	0.9482	M	0.81497	2.545	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	D	0.99364	1.0918	10	0.87932	D	0	-31.3331	18.8605	0.92270	0.0:1.0:0.0:0.0	.	256;1218	Q7Z601;Q8NGB0	GP142_HUMAN;.	C	256	ENSP00000335158:R256C	ENSP00000335158:R256C	R	+	1	0	GPR142	69879711	1.000000	0.71417	0.998000	0.56505	0.141000	0.21300	4.541000	0.60670	2.708000	0.92522	0.650000	0.86243	CGC		0.687	GPR142-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442545.1	NM_181790		6	29	0	0	0	1	0	6	29					T	72368116	C	T	72368116	3	4	254	1	0	0	0	0	1	0	0	0	6650	652	23	2	780	2	GPR142	17	72368116	Missense_Mutation	SNP	C	TCGA-HC-A8D0-01A-11D-A364-08	34115352	72368116	8827094	35	11918											
FAM38B	63895	broad.mit.edu	37	chr18	10696535	10696535	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggcacatagatctccagcGtcctgcaaaatggagacccc	11	7	10	13	1	1	2	0	0	1	2	3	3	2	2	4	2	2	2	4	2	3	1	rs376551561		TCGA-HC-A8D0-01A-11D-A364-08	TCGA-HC-A8D0-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d04bc84-6f8d-4ff3-8044-44e342859531	15291a8d-12a8-4092-914c-995dbb9b607b	g.chr18:10696535G>A	ENST00000503781.3	-	42	6490	c.6491C>T	c.(6490-6492)aCg>aTg	p.T2164M	PIEZO2_ENST00000302079.6_Missense_Mutation_p.T2164M|PIEZO2_ENST00000538948.1_Missense_Mutation_p.T121M|PIEZO2_ENST00000580640.1_Missense_Mutation_p.T2189M|PIEZO2_ENST00000285141.4_Missense_Mutation_p.T19M	NM_022068.2	NP_071351.2	Q9H5I5	PIEZ2_HUMAN	piezo-type mechanosensitive ion channel component 2	2164					cation transport (GO:0006812)|detection of mechanical stimulus involved in sensory perception (GO:0050974)|regulation of membrane potential (GO:0042391)|response to mechanical stimulus (GO:0009612)	integral component of membrane (GO:0016021)	cation channel activity (GO:0005261)|mechanically-gated ion channel activity (GO:0008381)										GATCTCCAGCGTCCTGCAAAA	0.527																																						ENST00000302079.6																			0											c.(6490-6492)aCg>aTg		piezo-type mechanosensitive ion channel component 2		G	MET/THR	2,4404	4.2+/-10.8	0,2,2201	109	103	105		6491	5.2	1	18		105	0,8600		0,0,4300	no	missense	PIEZO2	NM_022068.2	81	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	probably-damaging	2164/2753	10696535	2,13004	2203	4300	6503	SO:0001583	missense	63895					integral to membrane	ion channel activity	g.chr18:10696535G>A	AK027056		18p11.21	2012-11-19	2011-08-31	2011-08-31	ENSG00000154864	ENSG00000154864			26270	protein-coding gene	gene with protein product		613629	"chromosome 18 open reading frame 30", "chromosome 18 open reading frame 58", "family with sequence similarity 38, member B"	FAM38B2, C18orf30, C18orf58, FAM38B		20813920, 21056836, 21299953	Standard	NM_022068		Approved	FLJ23403, FLJ23144, HsT748, HsT771, FLJ34907	uc002kos.2	Q9H5I5	OTTHUMG00000178507	ENST00000503781.3:c.6491C>T	18.37:g.10696535G>A	ENSP00000421377:p.Thr2164Met					PIEZO2_ENST00000538948.1_Missense_Mutation_p.T121M|PIEZO2_ENST00000285141.4_Missense_Mutation_p.T19M|PIEZO2_ENST00000503781.3_Missense_Mutation_p.T2164M|PIEZO2_ENST00000580640.1_Missense_Mutation_p.T2189M	p.T2164M			Q9H5I5	PIEZ2_HUMAN			42	6490	-			2164					B7Z812|M4GPJ9|Q6ZS91|Q8N787|Q8NAR6|Q9H5R4	Missense_Mutation	SNP	ENST00000503781.3	37	c.6491C>T		.	.	.	.	.	.	.	.	.	.	G	14.34	2.504997	0.44558	4.54E-4	0.0	ENSG00000154864	ENST00000503781;ENST00000302079;ENST00000538948;ENST00000285141	T;T;T	0.32988	1.43;1.43;1.43	5.21	5.21	0.72293	.	1.663380	0.03062	N	0.155988	T	0.34250	0.0891	L	0.40543	1.245	0.37134	D	0.901408	D	0.57899	0.981	B	0.44163	0.443	T	0.18493	-1.0335	10	0.34782	T	0.22	.	12.1448	0.54018	0.0783:0.0:0.9217:0.0	.	121	D6RFZ0	.	M	121;2164;121;19	ENSP00000303316:T2164M;ENSP00000443129:T121M;ENSP00000285141:T19M	ENSP00000285141:T19M	T	-	2	0	FAM38B	10686535	0.998000	0.40836	1.000000	0.80357	0.437000	0.31866	3.224000	0.51238	2.436000	0.82500	0.655000	0.94253	ACG		0.527	PIEZO2-003	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000442385.4	NM_022068		3	32	0	0	0	1	0	3	32					A	10696535	G	A	10696535	3	1	254	1	0	0	0	0	1	0	0	0	5555	1145	40	1	1811	1	FAM38B	18	10696535	Missense_Mutation	SNP	G	TCGA-HC-A8D0-01A-11D-A364-08		10696535	67380713	36	11919											
FBN3	84467	broad.mit.edu	37	chr19	8137034	8137034	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gagagcagctcctctttgtcCggggtgtcctggggtccggg	3	10	17	11	2	1	1	0	0	1	1	5	2	5	1	4	5	2	2	4	5	0	1	rs144060152		TCGA-HC-A8D0-01A-11D-A364-08	TCGA-HC-A8D0-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d04bc84-6f8d-4ff3-8044-44e342859531	15291a8d-12a8-4092-914c-995dbb9b607b	g.chr19:8137034C>T	ENST00000600128.1	-	63	8400	c.7986G>A	c.(7984-7986)ccG>ccA	p.P2662P	FBN3_ENST00000270509.2_Silent_p.P2662P|FBN3_ENST00000601739.1_Silent_p.P2662P			Q75N90	FBN3_HUMAN	fibrillin 3	2662						proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						CCTCTTTGTCCGGGGTGTCCT	0.667													C|||	1	0.000199681	0	0	5008	,	,		19219	0		0.001	False		,,,				2504	0					ENST00000600128.1																			0				NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						c.(7984-7986)ccG>ccA		fibrillin 3		C		1,4405	2.1+/-5.4	0,1,2202	123	127	125		7986	-2.8	0	19	dbSNP_134	125	5,8595	3.7+/-12.6	0,5,4295	no	coding-synonymous	FBN3	NM_032447.3		0,6,6497	TT,TC,CC		0.0581,0.0227,0.0461		2662/2810	8137034	6,13000	2203	4300	6503	SO:0001819	synonymous_variant	84467					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent	g.chr19:8137034C>T		CCDS12196.1	19p13	2008-02-05							18794	protein-coding gene	gene with protein product		608529					Standard	NM_032447		Approved		uc002mjf.3	Q75N90		ENST00000600128.1:c.7986G>A	19.37:g.8137034C>T						FBN3_ENST00000270509.2_Silent_p.P2662P|FBN3_ENST00000601739.1_Silent_p.P2662P	p.P2662P			Q75N90	FBN3_HUMAN			63	8400	-			2662					Q75N91|Q75N92|Q75N93|Q86SJ5|Q96JP8	Silent	SNP	ENST00000600128.1	37	c.7986G>A	CCDS12196.1																																																																																				0.667	FBN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461428.2	NM_032447		10	116	0	0	0	1	0	10	116					T	8137034	C	T	8137034	2	4	254	1	0	0	0	0	0	0	0	1	5704	639	23	2		2	FBN3	19	8137034	Silent	SNP	C	TCGA-HC-A8D0-01A-11D-A364-08		8137034	50991949	37	11920											
FCGBP	8857	broad.mit.edu	37	chr19	40376854	40376856	+	In_Frame_Del	DEL	CTT	CTT	-																															cagaactcctccttctgataCttcttctccagctcgggagg																										TCGA-HC-A8D0-01A-11D-A364-08	TCGA-HC-A8D0-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d04bc84-6f8d-4ff3-8044-44e342859531	15291a8d-12a8-4092-914c-995dbb9b607b	g.chr19:40376854_40376856delCTT	ENST00000221347.6	-	24	11573_11575	c.11566_11568delAAG	c.(11566-11568)aagdel	p.K3856del	FCGBP_ENST00000595713.1_5'Flank	NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	3856	VWFD 9. {ECO:0000255|PROSITE- ProRule:PRU00580}.					extracellular vesicular exosome (GO:0070062)				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			CCTTCTGATACTTCTTCTCCAGC	0.655																																						ENST00000221347.6																			0				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165						c.(11566-11568)del		Fc fragment of IgG binding protein																																				SO:0001651	inframe_deletion	8857					extracellular region	protein binding	g.chr19:40376854_40376856delCTT	D84239		19q13.2	2013-09-20			ENSG00000090920	ENSG00000275395			13572	protein-coding gene	gene with protein product	"IgG Fc binding protein", "Human Fc gamma BP"					9182547	Standard	NM_003890		Approved	FC(GAMMA)BP	uc002omp.4	Q9Y6R7	OTTHUMG00000182580	ENST00000221347.6:c.11566_11568delAAG	19.37:g.40376857_40376859delCTT	ENSP00000221347:p.Lys3856del						p.K3856del	NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)		24	11573_11575	-	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		3856			VWFD 9.		O95784	In_Frame_Del	DEL	ENST00000221347.6	37	c.11566_11568delAAG	CCDS12546.1																																																																																				0.655	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462507.1	NM_003890		4	9						4	9	---	---	---	---	-	40376856	CTT	-	40376854	7	5	254	1	0	1	0	1	0	0	0	0	5778	564	20	0	4701	0	FCGBP	19	40376854	In_Frame_Del	DEL	CTT	TCGA-HC-A8D0-01A-11D-A364-08	32239820	40376854	18752129	38	11921											
KCNA7	3743	broad.mit.edu	37	chr19	49573832	49573832	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccgggacagcttgaagatgcGgaagacacgcaccaatcgga	13	4	13	11	4	0	3	0	1	0	2	1	6	0	6	2	3	2	2	2	3	3	1	rs143607148		TCGA-HC-A8D0-01A-11D-A364-08	TCGA-HC-A8D0-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d04bc84-6f8d-4ff3-8044-44e342859531	15291a8d-12a8-4092-914c-995dbb9b607b	g.chr19:49573832G>A	ENST00000221444.1	-	2	1214	c.859C>T	c.(859-861)Cgc>Tgc	p.R287C		NM_031886.2	NP_114092.2	Q96RP8	KCNA7_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 7	287					protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(4)|skin(2)	11		all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_epithelial(76;3.83e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		all cancers(93;0.000397)|OV - Ovarian serous cystadenocarcinoma(262;0.000519)|GBM - Glioblastoma multiforme(486;0.00541)|Epithelial(262;0.0441)	Dalfampridine(DB06637)	TTGAAGATGCGGAAGACACGC	0.617																																					Colon(74;686 1235 3793 23366 48562)	ENST00000221444.1																			0				central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(4)|skin(2)	11						c.(859-861)Cgc>Tgc		potassium voltage-gated channel, shaker-related subfamily, member 7		G	CYS/ARG	0,4406		0,0,2203	78	74	75		859	4.5	1	19	dbSNP_134	75	1,8599	1.2+/-3.3	0,1,4299	no	missense	KCNA7	NM_031886.2	180	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	287/457	49573832	1,13005	2203	4300	6503	SO:0001583	missense	3743					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr19:49573832G>A	AF315818	CCDS12755.1	19q13.3	2012-07-05				ENSG00000104848		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6226	protein-coding gene	gene with protein product		176268				16382104	Standard	NM_031886		Approved	Kv1.7, HAK6	uc002pmg.3	Q96RP8		ENST00000221444.1:c.859C>T	19.37:g.49573832G>A	ENSP00000221444:p.Arg287Cys						p.R287C	NM_031886.2	NP_114092.2	Q96RP8	KCNA7_HUMAN		all cancers(93;0.000397)|OV - Ovarian serous cystadenocarcinoma(262;0.000519)|GBM - Glioblastoma multiforme(486;0.00541)|Epithelial(262;0.0441)	2	1214	-		all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_epithelial(76;3.83e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)	287					A1KYX7|Q9BYS4	Missense_Mutation	SNP	ENST00000221444.1	37	c.859C>T	CCDS12755.1	.	.	.	.	.	.	.	.	.	.	G	19.95	3.920939	0.73213	0.0	1.16E-4	ENSG00000104848	ENST00000221444	D	0.98849	-5.18	4.54	4.54	0.55810	Ion transport (1);	0.052772	0.64402	D	0.000001	D	0.99560	0.9842	H	0.99859	4.855	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97448	1.0026	10	0.87932	D	0	.	12.2451	0.54566	0.0:0.0:0.829:0.171	.	287	Q96RP8	KCNA7_HUMAN	C	287	ENSP00000221444:R287C	ENSP00000221444:R287C	R	-	1	0	KCNA7	54265644	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.249000	0.43169	2.264000	0.75181	0.491000	0.48974	CGC		0.617	KCNA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466263.1	NM_031886		4	48	0	0	0	1	0	4	48					A	49573832	G	A	49573832	3	1	254	1	0	0	0	0	1	0	0	0	8008	1116	39	2	515	2	KCNA7	19	49573832	Missense_Mutation	SNP	G	TCGA-HC-A8D0-01A-11D-A364-08	9196978	49573832	9555151	39	11922											
TMPRSS2	7113	broad.mit.edu	37	chr21	42866285	42866285	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acacaaagagaatcctacttGaggtgcacactgtcccggat	13	8	9	11	1	0	2	0	1	0	1	2	4	2	3	2	2	2	1	2	2	3	2			TCGA-HC-A8D0-01A-11D-A364-08	TCGA-HC-A8D0-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d04bc84-6f8d-4ff3-8044-44e342859531	15291a8d-12a8-4092-914c-995dbb9b607b	g.chr21:42866285G>C	ENST00000332149.5	-	3	370	c.236C>G	c.(235-237)tCa>tGa	p.S79*	TMPRSS2_ENST00000398585.3_Nonsense_Mutation_p.S116*|TMPRSS2_ENST00000458356.1_Nonsense_Mutation_p.S79*|TMPRSS2_ENST00000497881.1_Intron	NM_005656.3	NP_005647.3	O15393	TMPS2_HUMAN	transmembrane protease, serine 2	79					positive regulation of viral entry into host cell (GO:0046598)|protein autoprocessing (GO:0016540)|proteolysis (GO:0006508)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)		TMPRSS2/ETV1(34)|TMPRSS2/ETV5_ENST00000306376(5)|TMPRSS2/ERG(3582)|TMPRSS2/ETV4(13)	central_nervous_system(1)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	4		Prostate(19;4.48e-07)|all_epithelial(19;0.031)				AATCCTACTTGAGGTGCACAC	0.617			T	"ERG, ETV1, ETV4, ETV5"	prostate																																	ENST00000398585.3				Dom	yes		21	21q22.3	7113	T	"transmembrane protease, serine 2"			E	"ERG, ETV1, ETV4, ETV5"		prostate	TMPRSS2/ETV1(34)|TMPRSS2/ETV5_ENST00000306376(5)|TMPRSS2/ERG(3582)|TMPRSS2/ETV4(13)	0				central_nervous_system(1)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	4						c.(346-348)tCa>tGa		transmembrane protease, serine 2							42	41	41					21																	42866285		2203	4300	6503	SO:0001587	stop_gained	0				proteolysis	cytoplasm|extracellular region|integral to plasma membrane	scavenger receptor activity|serine-type endopeptidase activity	g.chr21:42866285G>C	U75329	CCDS33564.1, CCDS54486.1	21q22.3	2010-04-13			ENSG00000184012	ENSG00000184012		"Serine peptidases / Transmembrane"	11876	protein-coding gene	gene with protein product		602060				9325052	Standard	NM_005656		Approved	PRSS10	uc010gor.3	O15393	OTTHUMG00000086762	ENST00000332149.5:c.236C>G	21.37:g.42866285G>C	ENSP00000330330:p.Ser79*					TMPRSS2_ENST00000458356.1_Nonsense_Mutation_p.S79*|TMPRSS2_ENST00000497881.1_Intron|TMPRSS2_ENST00000332149.5_Nonsense_Mutation_p.S79*	p.S116*	NM_001135099.1	NP_001128571.1	O15393	TMPS2_HUMAN			3	407	-		Prostate(19;4.48e-07)|all_epithelial(19;0.031)	79			LDL-receptor class A.		A8K6Z8|B2R8E5|B7Z459|D3DSJ2|F8WES1|Q6GTK7|Q9BXX1	Nonsense_Mutation	SNP	ENST00000332149.5	37	c.347C>G	CCDS33564.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.362345	0.82353	.	.	ENSG00000184012	ENST00000332149;ENST00000398585;ENST00000458356;ENST00000454499;ENST00000424093;ENST00000455813	.	.	.	4.72	3.84	0.44239	.	0.530450	0.15730	N	0.247468	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.22706	T	0.39	.	9.1976	0.37237	0.1017:0.0:0.8983:0.0	.	.	.	.	X	79;116;79;79;79;79	.	ENSP00000330330:S79X	S	-	2	0	TMPRSS2	41788155	0.973000	0.33851	0.955000	0.39395	0.169000	0.22640	1.922000	0.40045	1.114000	0.41781	0.650000	0.86243	TCA		0.617	TMPRSS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195189.1			3	18	0	0	0	1	0	3	18					C	42866285	G	C	42866285	4	2	254	1	0	0	0	0	0	1	0	0	16244	1294	45	5	1290	5	TMPRSS2	21	42866285	Nonsense_Mutation	SNP	G	TCGA-HC-A8D0-01A-11D-A364-08		42866285	5263610	40	11923											
GNAZ	2781	broad.mit.edu	37	chr22	23437931	23437931	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aagaagcagcccggcggtccCggagaattgaccgccacctg	10	4	13	14	4	0	3	0	1	0	2	1	4	1	3	5	3	2	1	5	3	3	1			TCGA-HC-A8D0-01A-11D-A364-08	TCGA-HC-A8D0-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d04bc84-6f8d-4ff3-8044-44e342859531	15291a8d-12a8-4092-914c-995dbb9b607b	g.chr22:23437931C>G	ENST00000248996.4	+	2	715	c.49C>G	c.(49-51)Cgg>Ggg	p.R17G	RTDR1_ENST00000216036.4_Intron	NM_002073.2	NP_002064.1	P19086	GNAZ_HUMAN	guanine nucleotide binding protein (G protein), alpha z polypeptide	17					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)	G-protein beta/gamma-subunit complex binding (GO:0031683)|G-protein coupled serotonin receptor binding (GO:0031821)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|receptor signaling protein activity (GO:0005057)|signal transducer activity (GO:0004871)			endometrium(3)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(5)|urinary_tract(1)	19	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)			READ - Rectum adenocarcinoma(21;0.166)		CCGGCGGTCCCGGAGAATTGA	0.637																																						ENST00000248996.4																			0				endometrium(3)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(5)|urinary_tract(1)	19						c.(49-51)Cgg>Ggg		guanine nucleotide binding protein (G protein), alpha z polypeptide							31	34	33					22																	23437931		2202	4299	6501	SO:0001583	missense	2781					endoplasmic reticulum|heterotrimeric G-protein complex|nuclear envelope	G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|metabotropic serotonin receptor binding|receptor signaling protein activity	g.chr22:23437931C>G		CCDS13804.1	22q11.1-q11.2	2008-06-10			ENSG00000128266	ENSG00000128266			4395	protein-coding gene	gene with protein product		139160				2115889	Standard	NM_002073		Approved		uc002zwu.1	P19086	OTTHUMG00000150611	ENST00000248996.4:c.49C>G	22.37:g.23437931C>G	ENSP00000248996:p.Arg17Gly					RTDR1_ENST00000216036.4_Intron	p.R17G	NM_002073.2	NP_002064.1	P19086	GNAZ_HUMAN		READ - Rectum adenocarcinoma(21;0.166)	2	715	+	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)		17					B2R6C1|Q4QRJ6	Missense_Mutation	SNP	ENST00000248996.4	37	c.49C>G	CCDS13804.1	.	.	.	.	.	.	.	.	.	.	C	19.44	3.827482	0.71143	.	.	ENSG00000128266	ENST00000248996	D	0.88741	-2.42	5.05	0.111	0.14619	.	0.000000	0.85682	D	0.000000	D	0.85331	0.5672	M	0.71920	2.185	0.50313	D	0.999863	B	0.26195	0.144	B	0.21708	0.036	T	0.80162	-0.1497	10	0.87932	D	0	.	8.8011	0.34909	0.3727:0.5568:0.0:0.0705	.	17	P19086	GNAZ_HUMAN	G	17	ENSP00000248996:R17G	ENSP00000248996:R17G	R	+	1	2	GNAZ	21767931	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	2.056000	0.41355	0.235000	0.21160	0.655000	0.94253	CGG		0.637	GNAZ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319073.1	NM_002073		8	44	0	0	0	1	0	8	44					G	23437931	C	G	23437931	3	3	254	1	0	0	0	0	1	0	0	0	6514	643	23	5	51	5	GNAZ	22	23437931	Missense_Mutation	SNP	C	TCGA-HC-A8D0-01A-11D-A364-08		23437931	27866635	41	11924											
SFRS17A	8227	broad.mit.edu	37	chrX	1712837	1712837	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccctgcaagtggttcgcccTgaaggagtcgggctccgaga	7	7	15	12	3	0	2	0	1	0	1	3	4	1	3	3	3	1	3	3	3	2	1			TCGA-HC-A8D0-01A-11D-A364-08	TCGA-HC-A8D0-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d04bc84-6f8d-4ff3-8044-44e342859531	15291a8d-12a8-4092-914c-995dbb9b607b	g.chrX:1712837T>A	ENST00000313871.3	+	2	678	c.482T>A	c.(481-483)cTg>cAg	p.L161Q	AKAP17A_ENST00000381261.3_Missense_Mutation_p.L161Q	NM_005088.2	NP_005079.2	Q02040	AK17A_HUMAN	A kinase (PRKA) anchor protein 17A	161	RRM.				B cell activation (GO:0042113)|mRNA processing (GO:0006397)|regulation of RNA splicing (GO:0043484)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|signal transduction (GO:0007165)	nuclear speck (GO:0016607)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein kinase A binding (GO:0051018)			breast(2)|endometrium(5)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)	26						TGGTTCGCCCTGAAGGAGTCG	0.642																																						ENST00000313871.3																			0				breast(2)|endometrium(5)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)	26						c.(481-483)cTg>cAg		A kinase (PRKA) anchor protein 17A							110	114	113					X																	1712837		2203	4296	6499	SO:0001583	missense	8227				B cell activation|mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|signal transduction	nuclear speck|spliceosomal complex	nucleotide binding|protein binding|RNA binding	g.chrX:1712837T>A	L03426	CCDS14116.1	Xp22.33 and Yp11.32	2010-09-08	2010-09-08	2010-09-08	ENSG00000197976	ENSG00000197976		"Pseudoautosomal regions / PAR1", "A-kinase anchor proteins"	18783	protein-coding gene	gene with protein product		312095, 465000	"chromosome X and Y open reading frame 3", "splicing factor, arginine/serine-rich 17A"	CXYorf3, SFRS17A		9736779, 1438229, 19840947	Standard	NR_027383		Approved	XE7, XE7Y, DXYS155E, MGC39904, 721P, CCDC133	uc004cqa.3	Q02040	OTTHUMG00000021063	ENST00000313871.3:c.482T>A	X.37:g.1712837T>A	ENSP00000324827:p.Leu161Gln					AKAP17A_ENST00000381261.3_Missense_Mutation_p.L161Q	p.L161Q	NM_005088.2	NP_005079.2	Q02040	AK17A_HUMAN			2	678	+			161			RRM.		Q02832|Q2TB98|Q5JQ74|Q5JQ76|Q8N6U9	Missense_Mutation	SNP	ENST00000313871.3	37	c.482T>A	CCDS14116.1	.	.	.	.	.	.	.	.	.	.	t	0.008	-1.866375	0.00547	.	.	ENSG00000197976	ENST00000313871;ENST00000381261	T;T	0.35236	1.32;1.32	2.04	-2.63	0.06133	.	0.539313	0.17269	U	0.180441	T	0.13841	0.0335	.	.	.	0.09310	N	1	B;B	0.15930	0.015;0.003	B;B	0.11329	0.004;0.006	T	0.23119	-1.0197	9	0.12430	T	0.62	.	3.7378	0.08517	0.0:0.2149:0.4046:0.3806	.	161;161	Q02040-3;Q02040	.;AK17A_HUMAN	Q	161	ENSP00000324827:L161Q;ENSP00000370660:L161Q	ENSP00000324827:L161Q	L	+	2	0	AKAP17A	1672837	0.033000	0.19621	0.109000	0.21407	0.561000	0.35649	0.029000	0.13666	-0.162000	0.10964	0.084000	0.15446	CTG		0.642	AKAP17A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055609.2	NM_005088		23	117	0	0	0	1	0	23	117					A	1712837	T	A	1712837	3	1	254	1	0	0	0	0	1	0	0	0	14173	1580	55	5	484	5	SFRS17A	23	1712837	Missense_Mutation	SNP	T	TCGA-HC-A8D0-01A-11D-A364-08		1712837	153557723	42	11925											
HAUS7	55559	broad.mit.edu	37	chrX	152721738	152721738	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcacctccgttctaagcgcGtgcaacttggcagcactctc	7	10	8	16	3	3	0	1	0	2	0	5	0	4	0	2	1	4	4	2	1	2	3	rs200218264		TCGA-HC-A8D0-01A-11D-A364-08	TCGA-HC-A8D0-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d04bc84-6f8d-4ff3-8044-44e342859531	15291a8d-12a8-4092-914c-995dbb9b607b	g.chrX:152721738G>C	ENST00000370211.4	-	7	763	c.720C>G	c.(718-720)caC>caG	p.H240Q	TREX2_ENST00000330912.2_5'UTR|TREX2_ENST00000338525.2_5'UTR|HAUS7_ENST00000370212.3_Missense_Mutation_p.H240Q|TREX2_ENST00000334497.2_5'UTR|HAUS7_ENST00000484394.1_5'UTR|HAUS7_ENST00000421080.2_Missense_Mutation_p.H101Q|TREX2_ENST00000370232.1_5'UTR	NM_017518.7	NP_059988.3	Q99871	HAUS7_HUMAN	HAUS augmin-like complex, subunit 7	240					centrosome organization (GO:0051297)|mitotic nuclear division (GO:0007067)|spindle assembly (GO:0051225)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|HAUS complex (GO:0070652)|microtubule (GO:0005874)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	thioesterase binding (GO:0031996)			endometrium(1)|kidney(3)|large_intestine(1)|lung(10)|prostate(1)|skin(3)	19						TTCTAAGCGCGTGCAACTTGG	0.632																																						ENST00000421080.2																			0				endometrium(1)|kidney(3)|large_intestine(1)|lung(10)|prostate(1)|skin(3)	19						c.(301-303)caC>caG		HAUS augmin-like complex, subunit 7							74	64	67					X																	152721738		2203	4300	6503	SO:0001583	missense	55559				cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|nucleolus|plasma membrane|spindle	thioesterase binding	g.chrX:152721738G>C	AF267739	CCDS35438.1	Xq28	2011-10-24	2009-04-20	2009-04-20		ENSG00000213397		"HAUS augmin-like complex subunits"	32979	protein-coding gene	gene with protein product	"UCH37 interacting protein 1", "26S proteasome-associated UCH interacting protein 1"	300540	"UCHL5 interacting protein"	UCHL5IP		11163772, 16395595, 19427217	Standard	NM_017518		Approved	UIP1	uc004fho.2	Q99871		ENST00000370211.4:c.720C>G	X.37:g.152721738G>C	ENSP00000359230:p.His240Gln					TREX2_ENST00000370232.1_5'UTR|HAUS7_ENST00000370212.3_Missense_Mutation_p.H240Q|HAUS7_ENST00000370211.4_Missense_Mutation_p.H230Q|HAUS7_ENST00000370219.3_Missense_Mutation_p.H240Q|TREX2_ENST00000338525.2_5'UTR|TREX2_ENST00000330912.2_5'UTR|HAUS7_ENST00000484394.1_5'UTR|TREX2_ENST00000334497.2_5'UTR	p.H101Q			Q99871	HAUS7_HUMAN			9	1469	-			240					B4DUH6|D3DWT9|Q96HS8|Q9NP54|Q9UFH9	Missense_Mutation	SNP	ENST00000370211.4	37	c.303C>G	CCDS35438.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	0.003|0.003	-2.431135|-2.431135	0.00184|0.00184	.|.	.|.	ENSG00000213397|ENSG00000213397	ENST00000370211;ENST00000370219;ENST00000421080;ENST00000370212|ENST00000435662	T;T;T;T|.	0.20881|.	2.04;2.04;2.04;2.04|.	3.89|3.89	1.14|1.14	0.20703|0.20703	.|.	0.698993|.	0.13328|.	N|.	0.396188|.	T|T	0.04634|0.04634	0.0126|0.0126	N|N	0.00138|0.00138	-2.015|-2.015	0.09310|0.09310	N|N	1|1	B;B|.	0.12013|.	0.001;0.005|.	B;B|.	0.10450|.	0.0;0.005|.	T|T	0.40739|0.40739	-0.9547|-0.9547	10|5	0.12766|.	T|.	0.61|.	-4.7054|-4.7054	6.0594|6.0594	0.19828|0.19828	0.3806:0.4357:0.1837:0.0|0.3806:0.4357:0.1837:0.0	.|.	240;240|.	Q99871;Q99871-2|.	HAUS7_HUMAN;.|.	Q|R	230;240;101;240|24	ENSP00000359230:H230Q;ENSP00000359239:H240Q;ENSP00000395447:H101Q;ENSP00000359231:H240Q|.	ENSP00000359230:H230Q|.	H|T	-|-	3|2	2|0	HAUS7|HAUS7	152374932|152374932	0.022000|0.022000	0.18835|0.18835	0.000000|0.000000	0.03702|0.03702	0.002000|0.002000	0.02628|0.02628	0.429000|0.429000	0.21412|0.21412	0.120000|0.120000	0.18254|0.18254	-3.796000|-3.796000	0.00020|0.00020	CAC|ACG		0.632	HAUS7-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000060963.2	NM_017518		9	26	0	0	0	1	0	9	26					C	152721738	G	C	152721738	3	2	254	1	0	0	0	0	1	0	0	0	6971	1136	40	5	402	5	HAUS7	23	152721738	Missense_Mutation	SNP	G	TCGA-HC-A8D0-01A-11D-A364-08	151008901	152721738	2548822	43	11926											
SELENBP1	8991	broad.mit.edu	37	chr1	151337077	151337077	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	agcggagctcatgggcaaggGctgggccaaggggctccttc	7	6	17	11	1	1	0	1	0	0	0	3	1	2	1	2	6	2	4	2	6	2	1			TCGA-HC-A8D1-01A-11D-A364-08	TCGA-HC-A8D1-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8e7248-e06a-4817-8199-d0a3a52e0a5f	d0e157eb-2d83-4028-9d45-cea626e62e21	g.chr1:151337077G>A	ENST00000368868.5	-	12	1452	c.1361C>T	c.(1360-1362)gCc>gTc	p.A454V	SELENBP1_ENST00000447402.3_Missense_Mutation_p.A392V|SELENBP1_ENST00000435071.1_Missense_Mutation_p.A390V|SELENBP1_ENST00000473693.1_5'Flank|SELENBP1_ENST00000426705.2_Missense_Mutation_p.A496V	NM_003944.3	NP_003935.2	Q13228	SBP1_HUMAN	selenium binding protein 1	454					protein transport (GO:0015031)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	selenium binding (GO:0008430)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|prostate(1)|urinary_tract(1)	20	Lung SC(34;0.00471)|Ovarian(49;0.00871)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			ATGGGCAAGGGCTGGGCCAAG	0.567																																						ENST00000426705.2																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|prostate(1)|urinary_tract(1)	20						c.(1486-1488)gCc>gTc		selenium binding protein 1							116	120	119					1																	151337077		2203	4300	6503	SO:0001583	missense	8991				protein transport	cytosol|membrane|nucleolus	protein binding|selenium binding	g.chr1:151337077G>A	U29091	CCDS995.1, CCDS58027.1, CCDS60266.1	1q21.3	2014-05-19			ENSG00000143416	ENSG00000143416			10719	protein-coding gene	gene with protein product		604188				9027582	Standard	NM_003944		Approved	hSP56, hSBP, LPSB	uc010pcy.3	Q13228	OTTHUMG00000012498	ENST00000368868.5:c.1361C>T	1.37:g.151337077G>A	ENSP00000357861:p.Ala454Val					SELENBP1_ENST00000368868.5_Missense_Mutation_p.A454V|SELENBP1_ENST00000447402.3_Missense_Mutation_p.A392V|SELENBP1_ENST00000435071.1_Missense_Mutation_p.A390V	p.A496V	NM_001258289.1	NP_001245218.1	Q13228	SBP1_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)		12	1631	-	Lung SC(34;0.00471)|Ovarian(49;0.00871)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		454					A6NML9|A6PVW9|B2RDR3|B4DKP6|B4E1F3|Q49AQ8|Q96GX7	Missense_Mutation	SNP	ENST00000368868.5	37	c.1487C>T	CCDS995.1	.	.	.	.	.	.	.	.	.	.	G	10.94	1.492482	0.26774	.	.	ENSG00000143416	ENST00000368868;ENST00000447402;ENST00000435071	.	.	.	4.86	4.86	0.63082	.	0.163511	0.53938	D	0.000059	T	0.15652	0.0377	N	0.11870	0.19	0.41902	D	0.990428	B;B;B;B	0.13594	0.005;0.004;0.004;0.008	B;B;B;B	0.20384	0.016;0.02;0.009;0.029	T	0.11518	-1.0584	9	0.22706	T	0.39	-8.9292	7.1008	0.25336	0.0922:0.1754:0.7324:0.0	.	392;307;390;454	B4E1F3;B4DPI7;Q13228-2;Q13228	.;.;.;SBP1_HUMAN	V	454;392;390	.	ENSP00000357861:A454V	A	-	2	0	SELENBP1	149603701	0.067000	0.21026	0.991000	0.47740	0.821000	0.46438	0.521000	0.22893	2.264000	0.75181	0.555000	0.69702	GCC		0.567	SELENBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034904.4			4	80	0	0	0	1	0	4	80					A	151337077	G	A	151337077	3	1	255	1	0	0	0	0	1	0	0	0	14014	1203	42	3	61	3	SELENBP1	1	151337077	Missense_Mutation	SNP	G	TCGA-HC-A8D1-01A-11D-A364-08		151337077	97913544	1	11927											
ZBTB7B	51043	broad.mit.edu	37	chr1	154988869	154988869	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caaggctttcgccaaggaggAccacctgcagcgccacctca	10	5	10	16	2	1	0	1	0	0	0	2	2	1	2	5	3	2	2	5	3	2	1			TCGA-HC-A8D1-01A-11D-A364-08	TCGA-HC-A8D1-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8e7248-e06a-4817-8199-d0a3a52e0a5f	d0e157eb-2d83-4028-9d45-cea626e62e21	g.chr1:154988869A>G	ENST00000368426.3	+	4	1465	c.1328A>G	c.(1327-1329)gAc>gGc	p.D443G	ZBTB7B_ENST00000292176.2_Missense_Mutation_p.D443G|ZBTB7B_ENST00000417934.2_Missense_Mutation_p.D477G|ZBTB7B_ENST00000535420.1_Missense_Mutation_p.D443G	NM_001256455.1	NP_001243384.1	O15156	ZBT7B_HUMAN	zinc finger and BTB domain containing 7B	443					cell differentiation (GO:0030154)|ectoderm development (GO:0007398)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)	29	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			GCCAAGGAGGACCACCTGCAG	0.642																																						ENST00000368426.3																			0				endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)	29						c.(1327-1329)gAc>gGc		zinc finger and BTB domain containing 7B							85	75	78					1																	154988869		2202	4300	6502	SO:0001583	missense	51043				cell differentiation|ectoderm development|multicellular organismal development|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding	g.chr1:154988869A>G	AF007833	CCDS1081.1, CCDS58030.1	1q21.2	2013-01-08		2005-04-07	ENSG00000160685	ENSG00000160685		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	18668	protein-coding gene	gene with protein product	"zinc finger and BTB domain containing 15"	607646	"zinc finger protein 67 homolog (mouse)"	ZFP67		9370309, 7937772	Standard	NR_045515		Approved	ZBTB15, c-Krox, hcKrox, ZNF857B	uc010peq.3	O15156	OTTHUMG00000037414	ENST00000368426.3:c.1328A>G	1.37:g.154988869A>G	ENSP00000357411:p.Asp443Gly					ZBTB7B_ENST00000417934.2_Missense_Mutation_p.D477G|ZBTB7B_ENST00000535420.1_Missense_Mutation_p.D443G|ZBTB7B_ENST00000292176.2_Missense_Mutation_p.D443G	p.D443G	NM_001256455.1	NP_001243384.1	O15156	ZBT7B_HUMAN	BRCA - Breast invasive adenocarcinoma(34;0.00034)		4	1465	+	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		443					B4E3K5|D3DV83|J3KQQ3|Q68DR2|Q96EP2	Missense_Mutation	SNP	ENST00000368426.3	37	c.1328A>G	CCDS1081.1	.	.	.	.	.	.	.	.	.	.	a	14.32	2.501088	0.44455	.	.	ENSG00000160685	ENST00000535420;ENST00000368426;ENST00000417934;ENST00000292176	T;T;T;T	0.05199	3.48;3.48;3.48;3.48	3.62	2.44	0.29823	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.64402	U	0.000002	T	0.01800	0.0057	L	0.29908	0.895	0.43043	D	0.994637	B;B;B	0.15473	0.013;0.007;0.013	B;B;B	0.14023	0.01;0.003;0.01	T	0.40757	-0.9546	10	0.41790	T	0.15	.	8.2677	0.31824	0.7981:0.2019:0.0:0.0	.	443;443;477	A8K6F4;O15156;B4E3K5	.;ZBT7B_HUMAN;.	G	443;443;477;443	ENSP00000438647:D443G;ENSP00000357411:D443G;ENSP00000406286:D477G;ENSP00000292176:D443G	ENSP00000292176:D443G	D	+	2	0	ZBTB7B	153255493	1.000000	0.71417	1.000000	0.80357	0.644000	0.38419	6.790000	0.75115	0.540000	0.28808	0.375000	0.23000	GAC		0.642	ZBTB7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091083.1	NM_015872		6	27	0	0	0	1	0	6	27					G	154988869	A	G	154988869	3	3	255	1	0	0	0	0	1	0	0	0	17551	275	10	4	1334	4	ZBTB7B	1	154988869	Missense_Mutation	SNP	A	TCGA-HC-A8D1-01A-11D-A364-08	3651792	154988869	94261752	2	11928											
HOXD8	3234	broad.mit.edu	37	chr2	176996330	176996330	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaagacagagccgaaggccTgacaaattaacttctacctt	14	8	9	10	1	1	3	0	1	1	2	1	5	1	4	3	2	3	0	3	2	5	4			TCGA-HC-A8D1-01A-11D-A364-08	TCGA-HC-A8D1-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8e7248-e06a-4817-8199-d0a3a52e0a5f	d0e157eb-2d83-4028-9d45-cea626e62e21	g.chr2:176996330T>G	ENST00000313173.4	+	2	1490	c.863T>G	c.(862-864)cTg>cGg	p.L288R	HOXD8_ENST00000548663.1_Missense_Mutation_p.L184R|HOXD8_ENST00000544999.1_Missense_Mutation_p.L287R|HOXD8_ENST00000429017.1_Missense_Mutation_p.L104R|HOXD8_ENST00000450510.2_Missense_Mutation_p.L287R|HOXD-AS2_ENST00000440016.2_RNA	NM_001199746.1|NM_019558.3	NP_001186675.1|NP_062458.1	P13378	HXD8_HUMAN	homeobox D8	288					anterior/posterior axis specification, embryo (GO:0008595)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|skeletal system morphogenesis (GO:0048705)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|large_intestine(2)|lung(5)|skin(1)	9			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.195)	Colorectal(32;0.0224)|READ - Rectum adenocarcinoma(9;0.0556)		GCCGAAGGCCTGACAAATTAA	0.433																																						ENST00000313173.4																			0				central_nervous_system(1)|large_intestine(2)|lung(5)|skin(1)	9						c.(862-864)cTg>cGg		homeobox D8							35	43	41					2																	176996330		2203	4299	6502	SO:0001583	missense	3234				anterior/posterior axis specification, embryo	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:176996330T>G		CCDS2268.1, CCDS56148.1, CCDS56149.1	2q31.1	2011-06-20	2005-12-22		ENSG00000175879	ENSG00000175879		"Homeoboxes / ANTP class : HOXL subclass"	5139	protein-coding gene	gene with protein product		142985	"homeo box D8"	HOX4, HOX4E		1973146, 1358459	Standard	NM_001199747		Approved		uc002uko.3	P13378	OTTHUMG00000132513	ENST00000313173.4:c.863T>G	2.37:g.176996330T>G	ENSP00000315949:p.Leu288Arg					HOXD8_ENST00000548663.1_Missense_Mutation_p.L184R|HOXD-AS2_ENST00000440016.2_RNA|HOXD8_ENST00000544999.1_Missense_Mutation_p.L287R|HOXD8_ENST00000429017.1_Missense_Mutation_p.L104R|HOXD8_ENST00000450510.2_Missense_Mutation_p.L287R	p.L288R	NM_001199746.1|NM_019558.3	NP_001186675.1|NP_062458.1	P13378	HXD8_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.195)	Colorectal(32;0.0224)|READ - Rectum adenocarcinoma(9;0.0556)	2	1490	+			288					F8WBG7|Q5BL00|Q8IXZ1	Missense_Mutation	SNP	ENST00000313173.4	37	c.863T>G	CCDS2268.1	.	.	.	.	.	.	.	.	.	.	t	4.977	0.181542	0.09495	.	.	ENSG00000175879	ENST00000429017;ENST00000313173;ENST00000544999;ENST00000548663;ENST00000450510	D;D;D;D;D	0.91407	-2.75;-2.84;-2.73;-2.58;-2.73	6.03	1.79	0.24919	.	0.618146	0.14464	N	0.317974	T	0.76702	0.4024	N	0.08118	0	0.09310	N	0.999999	B;B	0.20671	0.047;0.047	B;B	0.16289	0.015;0.015	T	0.61342	-0.7082	10	0.15952	T	0.53	.	7.8811	0.29623	0.1491:0.619:0.0:0.2319	.	287;288	Q8IXZ1;P13378	.;HXD8_HUMAN	R	104;288;287;184;287	ENSP00000406045:L104R;ENSP00000315949:L288R;ENSP00000437431:L287R;ENSP00000448196:L184R;ENSP00000409026:L287R	ENSP00000315949:L288R	L	+	2	0	HOXD8	176704576	0.000000	0.05858	0.512000	0.27736	0.965000	0.64279	0.098000	0.15189	0.409000	0.25649	-0.140000	0.14226	CTG		0.433	HOXD8-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255694.1			7	26	0	0	0	1	0	7	26					G	176996330	T	G	176996330	3	3	255	1	0	0	0	0	1	0	0	0	7325	1580	55	5	869	5	HOXD8	2	176996330	Missense_Mutation	SNP	T	TCGA-HC-A8D1-01A-11D-A364-08		176996330	66203043	3	11929											
NEU2	4759	broad.mit.edu	37	chr2	233899065	233899065	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gacctcactgatgcggccatCggcccagcctaccgggagtg	7	6	13	15	3	1	1	1	1	0	0	2	3	1	2	5	3	3	0	5	3	1	1			TCGA-HC-A8D1-01A-11D-A364-08	TCGA-HC-A8D1-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8e7248-e06a-4817-8199-d0a3a52e0a5f	d0e157eb-2d83-4028-9d45-cea626e62e21	g.chr2:233899065C>T	ENST00000233840.3	+	2	441	c.441C>T	c.(439-441)atC>atT	p.I147I		NM_005383.2	NP_005374.2	Q9Y3R4	NEUR2_HUMAN	sialidase 2 (cytosolic sialidase)	147					ganglioside catabolic process (GO:0006689)|glycosphingolipid metabolic process (GO:0006687)|oligosaccharide catabolic process (GO:0009313)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	exo-alpha-(2->3)-sialidase activity (GO:0052794)|exo-alpha-(2->6)-sialidase activity (GO:0052795)|exo-alpha-(2->8)-sialidase activity (GO:0052796)			endometrium(3)|large_intestine(2)|lung(10)|skin(2)|urinary_tract(1)	18		Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0271)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0839)		Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000311)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)|GBM - Glioblastoma multiforme(43;0.0488)	Oseltamivir(DB00198)|Zanamivir(DB00558)	ATGCGGCCATCGGCCCAGCCT	0.667																																						ENST00000233840.3																			0				endometrium(3)|large_intestine(2)|lung(10)|skin(2)|urinary_tract(1)	18						c.(439-441)atC>atT		sialidase 2 (cytosolic sialidase)							47	50	49					2																	233899065		2203	4300	6503	SO:0001819	synonymous_variant	4759						exo-alpha-sialidase activity	g.chr2:233899065C>T	Y16535	CCDS2501.1	2q37	2008-05-27			ENSG00000115488	ENSG00000115488			7759	protein-coding gene	gene with protein product	"N-acetyl-alpha-neuraminidase 2"	605528				10191093, 14613940	Standard	NM_005383		Approved	SIAL2	uc010zmn.2	Q9Y3R4	OTTHUMG00000133274	ENST00000233840.3:c.441C>T	2.37:g.233899065C>T							p.I147I	NM_005383.2	NP_005374.2	Q9Y3R4	NEUR2_HUMAN		Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000311)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)|GBM - Glioblastoma multiforme(43;0.0488)	2	441	+		Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0271)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0839)	147					Q3KNW4|Q6NTB4	Silent	SNP	ENST00000233840.3	37	c.441C>T	CCDS2501.1																																																																																				0.667	NEU2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257053.2	NM_005383		3	16	0	0	0	1	0	3	16					T	233899065	C	T	233899065	2	4	255	1	0	0	0	0	0	0	0	1	10342	874	31	2		2	NEU2	2	233899065	Silent	SNP	C	TCGA-HC-A8D1-01A-11D-A364-08	56902735	233899065	9300308	4	11930											
ITGA9	3680	broad.mit.edu	37	chr3	37818970	37818970	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aagaaaatatcttccacacaAtatttgcttttttcacaaag	16	14	3	8	0	2	1	1	0	1	1	3	1	3	1	1	0	1	1	1	0	7	7			TCGA-HC-A8D1-01A-11D-A364-08	TCGA-HC-A8D1-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8e7248-e06a-4817-8199-d0a3a52e0a5f	d0e157eb-2d83-4028-9d45-cea626e62e21	g.chr3:37818970A>G	ENST00000264741.5	+	24	2885	c.2629A>G	c.(2629-2631)Ata>Gta	p.I877V	AC093415.2_ENST00000438136.1_RNA	NM_002207.2	NP_002198.2	Q13797	ITA9_HUMAN	integrin, alpha 9	877					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|neutrophil chemotaxis (GO:0030593)|wound healing (GO:0042060)	basal plasma membrane (GO:0009925)|integrin alpha9-beta1 complex (GO:0034679)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(17)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|urinary_tract(1)	44				KIRC - Kidney renal clear cell carcinoma(284;0.165)|Kidney(284;0.197)		CTTCCACACAATATTTGCTTT	0.428																																						ENST00000264741.5																			0				breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(17)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|urinary_tract(1)	44						c.(2629-2631)Ata>Gta		integrin, alpha 9							119	117	118					3																	37818970		2203	4300	6503	SO:0001583	missense	3680				axon guidance|cell adhesion|integrin-mediated signaling pathway	integrin complex	receptor activity	g.chr3:37818970A>G	L24158	CCDS2669.1	3p21.3	2010-03-23			ENSG00000144668	ENSG00000144668		"Integrins"	6145	protein-coding gene	gene with protein product	"integrin, alpha 4-like"	603963				8245132, 8290272	Standard	NM_002207		Approved	RLC, ITGA4L, ALPHA-RLC	uc003chd.3	Q13797	OTTHUMG00000130815	ENST00000264741.5:c.2629A>G	3.37:g.37818970A>G	ENSP00000264741:p.Ile877Val					AC093415.2_ENST00000438136.1_RNA	p.I877V	NM_002207.2	NP_002198.2	Q13797	ITA9_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.165)|Kidney(284;0.197)	24	2885	+			877					Q14638	Missense_Mutation	SNP	ENST00000264741.5	37	c.2629A>G	CCDS2669.1	.	.	.	.	.	.	.	.	.	.	A	20.2	3.958144	0.73902	.	.	ENSG00000144668	ENST00000264741	T	0.43688	0.94	5.66	5.66	0.87406	Integrin alpha-2 (1);	0.000000	0.85682	D	0.000000	T	0.41213	0.1149	L	0.49640	1.575	0.80722	D	1	B	0.32968	0.392	B	0.37091	0.241	T	0.19418	-1.0306	10	0.21540	T	0.41	.	15.1835	0.72978	1.0:0.0:0.0:0.0	.	877	Q13797	ITA9_HUMAN	V	877	ENSP00000264741:I877V	ENSP00000264741:I877V	I	+	1	0	ITGA9	37793974	1.000000	0.71417	0.895000	0.35142	0.992000	0.81027	8.438000	0.90305	2.285000	0.76669	0.533000	0.62120	ATA		0.428	ITGA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253361.1	NM_002207		10	25	0	0	0	1	0	10	25					G	37818970	A	G	37818970	3	3	255	1	0	0	0	0	1	0	0	0	7883	101	4	4	2723	4	ITGA9	3	37818970	Missense_Mutation	SNP	A	TCGA-HC-A8D1-01A-11D-A364-08		37818970	160203460	5	11931											
FLNB	2317	broad.mit.edu	37	chr3	58148895	58148895	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	tcctagataagtatgctgttCgcttcatccctcatgagaat	10	14	7	10	1	2	2	2	1	0	2	5	3	4	2	2	0	1	4	2	0	4	5	rs149638325		TCGA-HC-A8D1-01A-11D-A364-08	TCGA-HC-A8D1-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8e7248-e06a-4817-8199-d0a3a52e0a5f	d0e157eb-2d83-4028-9d45-cea626e62e21	g.chr3:58148895C>G	ENST00000295956.4	+	43	7201	c.7036C>G	c.(7036-7038)Cgc>Ggc	p.R2346G	FLNB_ENST00000357272.4_3'UTR|FLNB-AS1_ENST00000488720.1_RNA|FLNB-AS1_ENST00000472922.1_RNA|FLNB_ENST00000358537.3_Missense_Mutation_p.R2322G|FLNB_ENST00000348383.5_Missense_Mutation_p.R2305G|FLNB_ENST00000490882.1_Missense_Mutation_p.R2377G|FLNB_ENST00000429972.2_Missense_Mutation_p.R2335G|FLNB_ENST00000493452.1_Missense_Mutation_p.R2153G|FLNB_ENST00000419752.2_Missense_Mutation_p.R2166G	NM_001457.3	NP_001448.2	O75369	FLNB_HUMAN	filamin B, beta	2346	Interaction with INPPL1.				actin cytoskeleton organization (GO:0030036)|cell differentiation (GO:0030154)|cytokine-mediated signaling pathway (GO:0019221)|cytoskeletal anchoring at plasma membrane (GO:0007016)|signal transduction (GO:0007165)|skeletal muscle tissue development (GO:0007519)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	actin binding (GO:0003779)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		GTATGCTGTTCGCTTCATCCC	0.517																																						ENST00000295956.4																			0				NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120						c.(7036-7038)Cgc>Ggc		filamin B, beta							127	104	111					3																	58148895		2203	4300	6503	SO:0001583	missense	2317				actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding	g.chr3:58148895C>G	AF043045	CCDS2885.1, CCDS54599.1, CCDS54600.1, CCDS54601.1	3p14.3	2011-02-11	2009-07-23		ENSG00000136068	ENSG00000136068			3755	protein-coding gene	gene with protein product	"actin binding protein 278"	603381	"filamin B, beta (actin binding protein 278)", "Larsen syndrome 1 (autosomal dominant)"	FLN1L, LRS1		8327473, 10449914, 14991055, 16801345	Standard	NM_001457		Approved	TAP, TABP, ABP-278, FH1	uc010hne.2	O75369	OTTHUMG00000159158	ENST00000295956.4:c.7036C>G	3.37:g.58148895C>G	ENSP00000295956:p.Arg2346Gly					FLNB_ENST00000357272.4_3'UTR|FLNB_ENST00000429972.2_Missense_Mutation_p.R2335G|FLNB_ENST00000419752.2_Missense_Mutation_p.R2166G|FLNB-AS1_ENST00000488720.1_RNA|FLNB_ENST00000358537.3_Missense_Mutation_p.R2322G|FLNB_ENST00000348383.5_Missense_Mutation_p.R2305G|FLNB_ENST00000493452.1_Missense_Mutation_p.R2153G|FLNB_ENST00000490882.1_Missense_Mutation_p.R2377G	p.R2346G	NM_001457.3	NP_001448.2	O75369	FLNB_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)	43	7201	+			2346			Interaction with INPPL1.		B2ZZ83|B2ZZ84|B2ZZ85|C9JKE6|C9JMC4|Q13706|Q59EC2|Q60FE7|Q6MZJ1|Q8WXS9|Q8WXT0|Q8WXT1|Q8WXT2|Q8WXT3|Q9NRB5|Q9NT26|Q9UEV9	Missense_Mutation	SNP	ENST00000295956.4	37	c.7036C>G	CCDS2885.1	.	.	.	.	.	.	.	.	.	.	C	17.86	3.493231	0.64186	.	.	ENSG00000136068	ENST00000295956;ENST00000490882;ENST00000358537;ENST00000429972;ENST00000348383;ENST00000493452;ENST00000419752	D;D;D;D;D;D;D	0.85629	-2.01;-2.01;-2.01;-2.01;-2.01;-2.01;-2.01	5.39	5.39	0.77823	Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.047466	0.85682	D	0.000000	D	0.91981	0.7460	M	0.76727	2.345	0.80722	D	1	D;P;P;B;D;P	0.62365	0.977;0.551;0.953;0.16;0.991;0.726	P;B;D;B;D;P	0.65773	0.805;0.428;0.911;0.18;0.938;0.699	D	0.92046	0.5644	10	0.59425	D	0.04	.	19.5302	0.95226	0.0:1.0:0.0:0.0	.	2322;2377;2153;2166;2335;2346	O75369-2;B2ZZ83;E7EN95;O75369-7;Q60FE7;O75369	.;.;.;.;.;FLNB_HUMAN	G	2346;2377;2322;2335;2305;2153;2166	ENSP00000295956:R2346G;ENSP00000420213:R2377G;ENSP00000351339:R2322G;ENSP00000415599:R2335G;ENSP00000232447:R2305G;ENSP00000418510:R2153G;ENSP00000414532:R2166G	ENSP00000295956:R2346G	R	+	1	0	FLNB	58123935	1.000000	0.71417	0.999000	0.59377	0.486000	0.33341	4.686000	0.61700	2.689000	0.91719	0.655000	0.94253	CGC		0.517	FLNB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000353569.1	NM_001457		5	27	0	0	0	1	0	5	27					G	58148895	C	G	58148895	3	3	255	1	0	0	0	0	1	0	0	0	5934	884	31	5	7303	5	FLNB	3	58148895	Missense_Mutation	SNP	C	TCGA-HC-A8D1-01A-11D-A364-08	20329925	58148895	139873535	6	11932											
CP	1356	broad.mit.edu	37	chr3	148903046	148903046	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttctgctcttgtaaatgatgCagctccttttcccactccct	6	16	5	14	0	2	1	0	1	2	0	5	1	5	1	3	0	3	4	3	0	2	5			TCGA-HC-A8D1-01A-11D-A364-08	TCGA-HC-A8D1-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8e7248-e06a-4817-8199-d0a3a52e0a5f	d0e157eb-2d83-4028-9d45-cea626e62e21	g.chr3:148903046C>T	ENST00000264613.6	-	12	2527	c.2265G>A	c.(2263-2265)ctG>ctA	p.L755L	CP_ENST00000462336.1_5'UTR	NM_000096.3	NP_000087	P00450	CERU_HUMAN	ceruloplasmin (ferroxidase)	755	F5/8 type A 3.|Plastocyanin-like 5.				cellular iron ion homeostasis (GO:0006879)|copper ion transport (GO:0006825)|transmembrane transport (GO:0055085)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)	chaperone binding (GO:0051087)|copper ion binding (GO:0005507)|ferroxidase activity (GO:0004322)			breast(6)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		Prostate(884;0.00217)|Hepatocellular(537;0.00826)|Myeloproliferative disorder(1037;0.0122)|all_neural(597;0.0189)|Melanoma(1037;0.152)	LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)		Drotrecogin alfa(DB00055)	GTAAATGATGCAGCTCCTTTT	0.428																																						ENST00000264613.6																			0				breast(6)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						c.(2263-2265)ctG>ctA		ceruloplasmin (ferroxidase)	Drotrecogin alfa(DB00055)						190	192	191					3																	148903046		2203	4300	6503	SO:0001819	synonymous_variant	1356				cellular iron ion homeostasis|copper ion transport|transmembrane transport	extracellular space	chaperone binding|ferroxidase activity	g.chr3:148903046C>T	M13536	CCDS3141.1	3q23-q25	2010-07-01			ENSG00000047457	ENSG00000047457	1.16.3.1		2295	protein-coding gene	gene with protein product		117700					Standard	NM_000096		Approved		uc003ewy.4	P00450	OTTHUMG00000159563	ENST00000264613.6:c.2265G>A	3.37:g.148903046C>T						CP_ENST00000462336.1_5'UTR	p.L755L	NM_000096.3	NP_000087.1	P00450	CERU_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)		12	2527	-		Prostate(884;0.00217)|Hepatocellular(537;0.00826)|Myeloproliferative disorder(1037;0.0122)|all_neural(597;0.0189)|Melanoma(1037;0.152)	755			F5/8 type A 3.|Plastocyanin-like 5.		Q14063|Q2PP18|Q9UKS4	Silent	SNP	ENST00000264613.6	37	c.2265G>A	CCDS3141.1																																																																																				0.428	CP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317498.1	NM_000096		4	152	0	0	0	1	0	4	152					T	148903046	C	T	148903046	2	4	255	1	0	0	0	0	0	0	0	1	3787	697	25	3		3	CP	3	148903046	Silent	SNP	C	TCGA-HC-A8D1-01A-11D-A364-08	90754151	148903046	49119384	7	11933											
DHX29	54505	broad.mit.edu	37	chr5	54558526	54558526	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgaggatgggtgtacttgtgCtttgccttgggccgtctcca	4	14	14	9	1	1	1	0	1	1	0	2	2	1	2	3	3	3	2	3	3	1	4			TCGA-HC-A8D1-01A-11D-A364-08	TCGA-HC-A8D1-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8e7248-e06a-4817-8199-d0a3a52e0a5f	d0e157eb-2d83-4028-9d45-cea626e62e21	g.chr5:54558526C>T	ENST00000251636.5	-	24	3908	c.3760G>A	c.(3760-3762)Gca>Aca	p.A1254T	RP11-506H20.1_ENST00000506435.1_RNA	NM_019030.2	NP_061903.2	Q7Z478	DHX29_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 29	1254						eukaryotic 43S preinitiation complex (GO:0016282)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)|ribosomal small subunit binding (GO:0043024)|translation initiation factor activity (GO:0003743)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|lung(6)|ovary(4)|prostate(1)|skin(3)|urinary_tract(2)	46		Lung NSC(810;4.08e-05)|Breast(144;0.0544)|Prostate(74;0.183)				TGTACTTGTGCTTTGCCTTGG	0.433																																						ENST00000251636.5																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|lung(6)|ovary(4)|prostate(1)|skin(3)|urinary_tract(2)	46						c.(3760-3762)Gca>Aca		DEAH (Asp-Glu-Ala-His) box polypeptide 29							184	176	179					5																	54558526		2203	4300	6503	SO:0001583	missense	54505						ATP binding|ATP-dependent helicase activity|translation initiation factor activity	g.chr5:54558526C>T	AY036974	CCDS34158.1	5q11.2	2008-02-05	2003-06-13	2003-06-20	ENSG00000067248	ENSG00000067248		"DEAH-boxes"	15815	protein-coding gene	gene with protein product		612720	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 29"	DDX29			Standard	XM_005248544		Approved		uc003jpx.3	Q7Z478	OTTHUMG00000162313	ENST00000251636.5:c.3760G>A	5.37:g.54558526C>T	ENSP00000251636:p.Ala1254Thr					RP11-506H20.1_ENST00000506435.1_RNA	p.A1254T	NM_019030.2	NP_061903.2	Q7Z478	DHX29_HUMAN			24	3908	-		Lung NSC(810;4.08e-05)|Breast(144;0.0544)|Prostate(74;0.183)	1254					O75549|Q63HN0|Q63HN3|Q8IWW2|Q8N3A1|Q9UMH2	Missense_Mutation	SNP	ENST00000251636.5	37	c.3760G>A	CCDS34158.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.230284	0.79688	.	.	ENSG00000067248	ENST00000251636	T	0.03607	3.87	5.42	5.42	0.78866	Domain of unknown function DUF1605 (1);	0.047001	0.85682	D	0.000000	T	0.14700	0.0355	M	0.68317	2.08	0.58432	D	0.999996	P	0.51653	0.947	P	0.56563	0.801	T	0.00039	-1.2242	10	0.62326	D	0.03	.	19.5786	0.95455	0.0:1.0:0.0:0.0	.	1254	Q7Z478	DHX29_HUMAN	T	1254	ENSP00000251636:A1254T	ENSP00000251636:A1254T	A	-	1	0	DHX29	54594283	1.000000	0.71417	1.000000	0.80357	0.185000	0.23345	7.386000	0.79775	2.711000	0.92665	0.655000	0.94253	GCA		0.433	DHX29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368532.1	NM_019030		8	99	0	0	0	1	0	8	99					T	54558526	C	T	54558526	3	4	255	1	0	0	0	0	1	0	0	0	4503	797	28	3	365	3	DHX29	5	54558526	Missense_Mutation	SNP	C	TCGA-HC-A8D1-01A-11D-A364-08		54558526	126356734	8	11934											
PCDHA5	56143	broad.mit.edu	37	chr5	140203041	140203041	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctggacgagaacgacaacGcgccggcgctgctggtgcct	7	6	15	13	6	0	1	0	0	0	1	0	4	0	2	2	3	5	3	2	3	2	0			TCGA-HC-A8D1-01A-11D-A364-08	TCGA-HC-A8D1-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8e7248-e06a-4817-8199-d0a3a52e0a5f	d0e157eb-2d83-4028-9d45-cea626e62e21	g.chr5:140203041G>A	ENST00000529859.1	+	1	1681	c.1681G>A	c.(1681-1683)Gcg>Acg	p.A561T	PCDHA3_ENST00000522353.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000378126.3_Missense_Mutation_p.A561T|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529619.1_Missense_Mutation_p.A561T	NM_018908.2	NP_061731.1	Q9Y5H7	PCDA5_HUMAN	protocadherin alpha 5	561	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.A561S(2)		NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(3)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAACGACAACGCGCCGGCGCT	0.716																																						ENST00000529859.1																			2	Substitution - Missense(2)	p.A561S(2)	lung(2)	NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(3)	60						c.(1681-1683)Gcg>Acg									52	58	56					5																	140203041		2202	4296	6498	SO:0001583	missense	0							g.chr5:140203041G>A	AF152483	CCDS54917.1	5q31	2010-11-26				ENSG00000204965		"Cadherins / Protocadherins : Clustered"	8671	other	complex locus constituent	"ortholog of mouse CNR6", "KIAA0345-like 9"	606311		CNRS6		10380929, 10662547	Standard	NM_018908		Approved	CNR6, CRNR6, CNRN6, PCDH-ALPHA5		Q9Y5H7		ENST00000529859.1:c.1681G>A	5.37:g.140203041G>A	ENSP00000436557:p.Ala561Thr					PCDHA5_ENST00000378126.3_Missense_Mutation_p.A561T|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Missense_Mutation_p.A561T|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron	p.A561T	NM_018908.2	NP_061731.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1681	+								O75284|Q8N4R3	Missense_Mutation	SNP	ENST00000529859.1	37	c.1681G>A	CCDS54917.1	.	.	.	.	.	.	.	.	.	.	G	11.00	1.511195	0.27036	.	.	ENSG00000204965	ENST00000529619;ENST00000529859;ENST00000378126	T;T;T	0.43294	0.95;0.95;0.95	3.86	2.9	0.33743	Cadherin (4);Cadherin conserved site (1);Cadherin-like (1);	.	.	.	.	T	0.41373	0.1156	M	0.69823	2.125	0.26803	N	0.969159	P;P;P	0.43607	0.466;0.812;0.812	B;B;B	0.36244	0.094;0.22;0.22	T	0.46091	-0.9216	9	0.66056	D	0.02	.	13.1137	0.59288	0.0:0.0:0.8399:0.1601	.	561;561;561	Q9Y5H7;Q9Y5H7-3;Q9Y5H7-2	PCDA5_HUMAN;.;.	T	561	ENSP00000433416:A561T;ENSP00000436557:A561T;ENSP00000367366:A561T	ENSP00000367366:A561T	A	+	1	0	PCDHA5	140183225	0.225000	0.23685	0.978000	0.43139	0.010000	0.07245	1.728000	0.38105	1.864000	0.54056	0.461000	0.40582	GCG		0.716	PCDHA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372883.2	NM_018908		4	79	0	0	0	1	0	4	79					A	140203041	G	A	140203041	3	1	255	1	0	0	0	0	1	0	0	0	11527	1087	38	1	1683	1	PCDHA5	5	140203041	Missense_Mutation	SNP	G	TCGA-HC-A8D1-01A-11D-A364-08	85644515	140203041	40712219	9	11935											
ATP10B	23120	broad.mit.edu	37	chr5	160114831	160114831	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaattgctcaaagagattcCggggcaggaaggtgaagagg	14	6	16	5	1	1	3	1	1	0	2	2	6	2	4	1	5	1	2	1	5	4	2	rs200273307		TCGA-HC-A8D1-01A-11D-A364-08	TCGA-HC-A8D1-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8e7248-e06a-4817-8199-d0a3a52e0a5f	d0e157eb-2d83-4028-9d45-cea626e62e21	g.chr5:160114831C>T	ENST00000327245.5	-	5	1097	c.251G>A	c.(250-252)cGg>cAg	p.R84Q	CTC-529G1.1_ENST00000524198.1_RNA|ATP10B_ENST00000518411.1_5'UTR	NM_025153.2	NP_079429.2	O94823	AT10B_HUMAN	ATPase, class V, type 10B	84					phospholipid translocation (GO:0045332)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			AAAGAGATTCCGGGGCAGGAA	0.453																																						ENST00000327245.5																			0				NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75						c.(250-252)cGg>cAg		ATPase, class V, type 10B		C	GLN/ARG	0,3844		0,0,1922	174	179	177		251	-3.5	1	5		177	1,8237		0,1,4118	no	missense	ATP10B	NM_025153.2	43	0,1,6040	TT,TC,CC		0.0121,0.0,0.0083	benign	84/1462	160114831	1,12081	1922	4119	6041	SO:0001583	missense	23120				ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr5:160114831C>T	AB018258	CCDS43394.1	5q34	2010-04-20	2007-09-19		ENSG00000118322	ENSG00000118322		"ATPases / P-type"	13543	protein-coding gene	gene with protein product			"ATPase, Class V, type 10B"			9872452, 11015572	Standard	NM_025153		Approved	ATPVB, KIAA0715, FLJ21477	uc003lym.1	O94823	OTTHUMG00000163551	ENST00000327245.5:c.251G>A	5.37:g.160114831C>T	ENSP00000313600:p.Arg84Gln					ATP10B_ENST00000518411.1_5'UTR|CTC-529G1.1_ENST00000524198.1_RNA	p.R84Q	NM_025153.2	NP_079429.2	O94823	AT10B_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		5	1097	-	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	84					Q9H725	Missense_Mutation	SNP	ENST00000327245.5	37	c.251G>A	CCDS43394.1	.	.	.	.	.	.	.	.	.	.	C	13.71	2.318300	0.40996	0.0	1.21E-4	ENSG00000118322	ENST00000327245	T	0.80480	-1.38	5.37	-3.5	0.04710	.	0.609648	0.16243	N	0.223076	T	0.65811	0.2727	L	0.31926	0.97	0.22240	N	0.99927	B;B;B	0.27765	0.04;0.188;0.003	B;B;B	0.24269	0.009;0.052;0.001	T	0.51228	-0.8732	9	.	.	.	.	12.6961	0.57005	0.0:0.4697:0.0:0.5303	.	128;84;84	B4DHG1;O94823-2;O94823	.;.;AT10B_HUMAN	Q	84	ENSP00000313600:R84Q	.	R	-	2	0	ATP10B	160047409	0.573000	0.26676	0.958000	0.39756	0.692000	0.40212	0.209000	0.17435	-0.506000	0.06558	0.467000	0.42956	CGG		0.453	ATP10B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374127.1	NM_025153		7	56	0	0	0	1	0	7	56					T	160114831	C	T	160114831	3	4	255	1	0	0	0	0	1	0	0	0	1117	652	23	2	4222	2	ATP10B	5	160114831	Missense_Mutation	SNP	C	TCGA-HC-A8D1-01A-11D-A364-08	19911790	160114831	20800429	10	11936											
HIST1H2BM	8342	broad.mit.edu	37	chr6	27783060	27783060	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatcgccggagaagcgtcacGcctggcgcattacaacaagc	11	6	11	13	5	1	1	1	0	0	1	2	2	1	1	2	2	4	1	2	2	5	2			TCGA-HC-A8D1-01A-11D-A364-08	TCGA-HC-A8D1-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8e7248-e06a-4817-8199-d0a3a52e0a5f	d0e157eb-2d83-4028-9d45-cea626e62e21	g.chr6:27783060G>C	ENST00000359465.4	+	1	239	c.239G>C	c.(238-240)cGc>cCc	p.R80P	HIST1H2AJ_ENST00000333151.3_5'Flank	NM_003521.2	NP_003512.1	Q99879	H2B1M_HUMAN	histone cluster 1, H2bm	80					chromatin organization (GO:0006325)|nucleosome assembly (GO:0006334)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)	12						GAAGCGTCACGCCTGGCGCAT	0.592																																						ENST00000359465.4																			0				NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)	12						c.(238-240)cGc>cCc		histone cluster 1, H2bm							110	101	104					6																	27783060		2203	4300	6503	SO:0001583	missense	8342				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr6:27783060G>C	Z83738	CCDS4629.1	6p22.1	2011-01-27	2006-10-11	2003-02-28	ENSG00000196374	ENSG00000273703		"Histones / Replication-dependent"	4750	protein-coding gene	gene with protein product		602802	"H2B histone family, member E", "histone 1, H2bm"	H2BFE		9439656, 12408966	Standard	NM_003521		Approved	H2B/e, dJ160A22.3	uc003njo.3	Q99879	OTTHUMG00000014489	ENST00000359465.4:c.239G>C	6.37:g.27783060G>C	ENSP00000352442:p.Arg80Pro						p.R80P	NM_003521.2	NP_003512.1	Q99879	H2B1M_HUMAN			1	239	+			80					Q6NWQ3	Missense_Mutation	SNP	ENST00000359465.4	37	c.239G>C	CCDS4629.1	.	.	.	.	.	.	.	.	.	.	.	17.49	3.403356	0.62288	.	.	ENSG00000196374	ENST00000359465	T	0.32272	1.46	4.17	4.17	0.49024	Histone-fold (2);Histone core (1);	0.000000	0.64402	U	0.000013	T	0.58552	0.2130	H	0.96015	3.755	0.80722	D	1	D	0.58970	0.984	P	0.59643	0.861	T	0.74506	-0.3643	10	0.87932	D	0	.	15.9934	0.80223	0.0:0.0:1.0:0.0	.	80	Q99879	H2B1M_HUMAN	P	80	ENSP00000352442:R80P	ENSP00000352442:R80P	R	+	2	0	HIST1H2BM	27891039	1.000000	0.71417	0.997000	0.53966	0.673000	0.39480	7.036000	0.76524	2.308000	0.77769	0.563000	0.77884	CGC		0.592	HIST1H2BM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040157.1	NM_003521		16	65	0	0	0	1	0	16	65					C	27783060	G	C	27783060	3	2	255	1	0	0	0	0	1	0	0	0	7152	1087	38	5	241	5	HIST1H2BM	6	27783060	Missense_Mutation	SNP	G	TCGA-HC-A8D1-01A-11D-A364-08		27783060	143332007	11	11937											
TRIM15	89870	broad.mit.edu	37	chr6	30138773	30138773	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	aaaacttggcgcatcatctgGaaatagattcaggtaaacag	16	9	9	7	1	3	1	2	0	1	1	3	2	3	2	0	3	2	2	0	3	6	4			TCGA-HC-A8D1-01A-11D-A364-08	TCGA-HC-A8D1-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8e7248-e06a-4817-8199-d0a3a52e0a5f	d0e157eb-2d83-4028-9d45-cea626e62e21	g.chr6:30138773G>A	ENST00000376694.4	+	6	1337	c.868G>A	c.(868-870)Gaa>Aaa	p.E290K	TRIM15_ENST00000376688.1_Intron	NM_033229.2	NP_150232.2	Q9C019	TRI15_HUMAN	tripartite motif containing 15	290	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				innate immune response (GO:0045087)|mesodermal cell fate determination (GO:0007500)|negative regulation of intracellular transport of viral material (GO:1901253)|negative regulation of viral release from host cell (GO:1902187)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of RIG-I signaling pathway (GO:1900246)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of type I interferon production (GO:0032481)	intracellular (GO:0005622)	zinc ion binding (GO:0008270)			large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(1)	14						GCATCATCTGGAAATAGATTC	0.428																																						ENST00000376694.4																			0				large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(1)	14						c.(868-870)Gaa>Aaa		tripartite motif containing 15							165	178	173					6																	30138773		1511	2709	4220	SO:0001583	missense	89870				mesodermal cell fate determination	intracellular	zinc ion binding	g.chr6:30138773G>A	AF220132, U34249	CCDS4677.1	6p21.33	2013-01-09	2011-01-25		ENSG00000204610	ENSG00000204610		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	16284	protein-coding gene	gene with protein product			"zinc finger protein 178", "tripartite motif-containing 15"	ZNF178		11331580, 8304341, 8812418	Standard	NM_033229		Approved	ZNFB7, RNF93	uc010jrx.3	Q9C019	OTTHUMG00000031031	ENST00000376694.4:c.868G>A	6.37:g.30138773G>A	ENSP00000365884:p.Glu290Lys					TRIM15_ENST00000376688.1_Intron	p.E290K	NM_033229.2	NP_150232.2	Q9C019	TRI15_HUMAN			6	1337	+			290			B30.2/SPRY.		A2BEC9|O95604|Q8IUX9|Q9C018	Missense_Mutation	SNP	ENST00000376694.4	37	c.868G>A	CCDS4677.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.47|19.47	3.833140|3.833140	0.71258|0.71258	.|.	.|.	ENSG00000204610|ENSG00000204610	ENST00000376695;ENST00000376694|ENST00000433744	T|.	0.53640|.	0.61|.	5.1|5.1	4.22|4.22	0.49857|0.49857	Concanavalin A-like lectin/glucanase (1);B30.2/SPRY domain (1);|.	0.284737|.	0.26321|.	N|.	0.025058|.	T|.	0.45316|.	0.1336|.	L|L	0.46157|0.46157	1.445|1.445	0.80722|0.80722	D|D	1|1	D|.	0.56968|.	0.978|.	P|.	0.56865|.	0.808|.	T|.	0.42155|.	-0.9468|.	10|.	0.34782|.	T|.	0.22|.	.|.	11.3132|11.3132	0.49377|0.49377	0.0:0.1988:0.8012:0.0|0.0:0.1988:0.8012:0.0	.|.	290|.	Q9C019|.	TRI15_HUMAN|.	K|X	221;290|126	ENSP00000365884:E290K|.	ENSP00000365884:E290K|.	E|W	+|+	1|3	0|0	TRIM15|TRIM15	30246752|30246752	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.905000|0.905000	0.53344|0.53344	2.585000|2.585000	0.46111|0.46111	1.356000|1.356000	0.45884|0.45884	0.579000|0.579000	0.79373|0.79373	GAA|TGG		0.428	TRIM15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076026.2	NM_033229		16	58	0	0	0	1	0	16	58					A	30138773	G	A	30138773	3	1	255	1	0	0	0	0	1	0	0	0	16487	1175	41	3	890	3	TRIM15	6	30138773	Missense_Mutation	SNP	G	TCGA-HC-A8D1-01A-11D-A364-08	2355713	30138773	140976294	12	11938											
NPC1L1	29881	broad.mit.edu	37	chr7	44575523	44575523	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagctggtggcaaagatgggCaggtcttcagctgtggtgcg	7	10	17	7	1	2	1	1	0	1	1	2	1	2	1	0	5	3	4	0	5	2	2			TCGA-HC-A8D1-01A-11D-A364-08	TCGA-HC-A8D1-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8e7248-e06a-4817-8199-d0a3a52e0a5f	d0e157eb-2d83-4028-9d45-cea626e62e21	g.chr7:44575523C>A	ENST00000289547.4	-	5	1954	c.1899G>T	c.(1897-1899)ctG>ctT	p.L633L	NPC1L1_ENST00000546276.1_Silent_p.L633L|NPC1L1_ENST00000423141.1_Silent_p.L633L|NPC1L1_ENST00000381160.3_Silent_p.L633L	NM_013389.2	NP_037521.2	Q9UHC9	NPCL1_HUMAN	NPC1-like 1	633	SSD. {ECO:0000255|PROSITE- ProRule:PRU00199}.				cholesterol biosynthetic process (GO:0006695)|cholesterol transport (GO:0030301)|intestinal cholesterol absorption (GO:0030299)|lipoprotein metabolic process (GO:0042157)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|sterol transport (GO:0015918)	brush border membrane (GO:0031526)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	drug binding (GO:0008144)|hedgehog receptor activity (GO:0008158)|myosin V binding (GO:0031489)|Rab GTPase binding (GO:0017137)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	57					Ezetimibe(DB00973)	CAAAGATGGGCAGGTCTTCAG	0.592																																						ENST00000289547.4																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	57						c.(1897-1899)ctG>ctT		NPC1-like 1	Ezetimibe(DB00973)						129	111	117					7																	44575523		2203	4300	6503	SO:0001819	synonymous_variant	29881				cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process	apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane	hedgehog receptor activity|protein binding	g.chr7:44575523C>A		CCDS5491.1, CCDS43575.1, CCDS75587.1	7p13	2012-11-15	2012-11-15		ENSG00000015520	ENSG00000015520			7898	protein-coding gene	gene with protein product		608010	"NPC1 (Niemann-Pick disease, type C1, gene)-like 1"			10783261	Standard	NM_013389		Approved		uc003tlb.3	Q9UHC9	OTTHUMG00000023691	ENST00000289547.4:c.1899G>T	7.37:g.44575523C>A						NPC1L1_ENST00000423141.1_Silent_p.L633L|NPC1L1_ENST00000546276.1_Silent_p.L633L|NPC1L1_ENST00000381160.3_Silent_p.L633L	p.L633L	NM_013389.2	NP_037521.2	Q9UHC9	NPCL1_HUMAN			5	1954	-			633			SSD.		A4D2J7|B7ZLE6|D3DVK9|Q17RV5|Q6R3Q4|Q9UHC8	Silent	SNP	ENST00000289547.4	37	c.1899G>T	CCDS5491.1																																																																																				0.592	NPC1L1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251256.1	NM_013389		3	28	1	0	0.150653	1	0.150653	3	28					A	44575523	C	A	44575523	2	1	255	1	0	0	0	0	0	0	0	1	10571	697	25	5		5	NPC1L1	7	44575523	Silent	SNP	C	TCGA-HC-A8D1-01A-11D-A364-08		44575523	114563140	13	11939											
ESCO2	157570	broad.mit.edu	37	chr8	27645492	27645492	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	actaataccagagatacaagTaaaaaaacaaaagaccagct	23	5	5	8	0	0	2	0	0	0	2	0	3	0	2	2	0	4	2	2	0	10	4			TCGA-HC-A8D1-01A-11D-A364-08	TCGA-HC-A8D1-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8e7248-e06a-4817-8199-d0a3a52e0a5f	d0e157eb-2d83-4028-9d45-cea626e62e21	g.chr8:27645492T>C	ENST00000305188.8	+	6	1342	c.1104T>C	c.(1102-1104)agT>agC	p.S368S	ESCO2_ENST00000397418.2_Silent_p.S16S	NM_001017420.2	NP_001017420.1	Q56NI9	ESCO2_HUMAN	establishment of sister chromatid cohesion N-acetyltransferase 2	368					chromosome segregation (GO:0007059)|double-strand break repair (GO:0006302)|hematopoietic progenitor cell differentiation (GO:0002244)|mitotic cell cycle (GO:0000278)|post-translational protein acetylation (GO:0034421)|protein localization to chromatin (GO:0071168)|regulation of DNA replication (GO:0006275)	chromatin (GO:0000785)|chromocenter (GO:0010369)|Golgi apparatus (GO:0005794)|nuclear pericentric heterochromatin (GO:0031618)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)|XY body (GO:0001741)	lysine N-acetyltransferase activity, acting on acetyl phosphate as donor (GO:0004468)|metal ion binding (GO:0046872)			autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Ovarian(32;0.000953)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0204)|KIRC - Kidney renal clear cell carcinoma(542;0.0955)|Kidney(114;0.115)|Colorectal(74;0.132)		GAGATACAAGTAAAAAAACAA	0.383									SC Phocomelia syndrome																													ENST00000305188.8																			0				autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						c.(1102-1104)agT>agC		establishment of sister chromatid cohesion N-acetyltransferase 2							98	97	98					8																	27645492		2203	4300	6503	SO:0001819	synonymous_variant	157570	SC Phocomelia syndrome	Familial Cancer Database	SC-Pseudothalidomide s., incl.: Roberts s.	cell cycle|post-translational protein acetylation|regulation of DNA replication	chromatin|nucleus	acyltransferase activity|metal ion binding	g.chr8:27645492T>C	AF306679	CCDS34872.1	8p21.1	2013-05-02	2013-05-02		ENSG00000171320	ENSG00000171320			27230	protein-coding gene	gene with protein product		609353	"Roberts syndrome", "establishment of cohesion 1 homolog 2 (S. cerevisiae)"	RBS		15958495, 16775838, 15821733, 16380922	Standard	XR_247122		Approved	EFO2	uc003xgg.3	Q56NI9	OTTHUMG00000163901	ENST00000305188.8:c.1104T>C	8.37:g.27645492T>C						ESCO2_ENST00000397418.2_Silent_p.S16S	p.S368S	NM_001017420.2	NP_001017420.1	Q56NI9	ESCO2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0204)|KIRC - Kidney renal clear cell carcinoma(542;0.0955)|Kidney(114;0.115)|Colorectal(74;0.132)	6	1342	+		Ovarian(32;0.000953)	368					B3KW59|Q49AP4	Silent	SNP	ENST00000305188.8	37	c.1104T>C	CCDS34872.1	.	.	.	.	.	.	.	.	.	.	t	4.435	0.080446	0.08533	.	.	ENSG00000171320	ENST00000518262	.	.	.	5.79	-5.02	0.02982	.	.	.	.	.	T	0.50497	0.1619	.	.	.	0.40030	D	0.975521	.	.	.	.	.	.	T	0.52162	-0.8612	4	.	.	.	-8.3995	8.476	0.33014	0.0:0.3365:0.4883:0.1752	.	.	.	.	A	73	.	.	V	+	2	0	ESCO2	27701411	0.986000	0.35501	0.759000	0.31340	0.385000	0.30292	-0.102000	0.10956	-0.771000	0.04608	-0.360000	0.07572	GTA		0.383	ESCO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376276.1	NM_001017420		3	90	0	0	0	1	0	3	90					C	27645492	T	C	27645492	2	2	255	1	0	0	0	0	0	0	0	1	5249	1635	57	4		4	ESCO2	8	27645492	Silent	SNP	T	TCGA-HC-A8D1-01A-11D-A364-08		27645492	118718530	14	11940											
ITGA8	8516	broad.mit.edu	37	chr10	15649742	15649742	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttatcacaagagggaagacGcgatgagcctgatggttatc	12	10	12	7	2	1	4	1	2	0	2	2	6	1	5	1	2	1	1	1	2	4	3			TCGA-HC-A8D1-01A-11D-A364-08	TCGA-HC-A8D1-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8e7248-e06a-4817-8199-d0a3a52e0a5f	d0e157eb-2d83-4028-9d45-cea626e62e21	g.chr10:15649742G>T	ENST00000378076.3	-	17	2051	c.1698C>A	c.(1696-1698)cgC>cgA	p.R566R		NM_003638.1	NP_003629	P53708	ITA8_HUMAN	integrin, alpha 8	566					brain development (GO:0007420)|cell projection organization (GO:0030030)|cell-matrix adhesion (GO:0007160)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|integrin-mediated signaling pathway (GO:0007229)|kidney development (GO:0001822)|memory (GO:0007613)|mesodermal cell differentiation (GO:0048333)|metanephros development (GO:0001656)|positive regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation (GO:2000721)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|single organismal cell-cell adhesion (GO:0016337)|smooth muscle tissue development (GO:0048745)|substrate adhesion-dependent cell spreading (GO:0034446)	apical part of cell (GO:0045177)|cell surface (GO:0009986)|dendritic spine membrane (GO:0032591)|endoplasmic reticulum (GO:0005783)|focal adhesion (GO:0005925)|integrin alpha8-beta1 complex (GO:0034678)|integrin complex (GO:0008305)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	metal ion binding (GO:0046872)			NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						GAGGGAAGACGCGATGAGCCT	0.453																																						ENST00000378076.3																			0				NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						c.(1696-1698)cgC>cgA		integrin, alpha 8							174	172	173					10																	15649742		2203	4300	6503	SO:0001819	synonymous_variant	8516				cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development	integrin complex	receptor activity	g.chr10:15649742G>T	L36531	CCDS31155.1	10p13	2010-03-23			ENSG00000077943	ENSG00000077943		"Integrins"	6144	protein-coding gene	gene with protein product		604063				7768999	Standard	XM_005252633		Approved		uc001ioc.1	P53708	OTTHUMG00000017733	ENST00000378076.3:c.1698C>A	10.37:g.15649742G>T							p.R566R	NM_003638.1	NP_003629.1	P53708	ITA8_HUMAN			17	2051	-			566					B0YJ31|Q5VX94	Silent	SNP	ENST00000378076.3	37	c.1698C>A	CCDS31155.1																																																																																				0.453	ITGA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046987.1	NM_003638		19	88	1	0	8.00594e-06	1	8.38717e-06	19	88					T	15649742	G	T	15649742	2	4	255	1	0	0	0	0	0	0	0	1	7882	1074	38	5		5	ITGA8	10	15649742	Silent	SNP	G	TCGA-HC-A8D1-01A-11D-A364-08		15649742	119885005	15	11941											
TRIM8	81603	broad.mit.edu	37	chr10	104414440	104414440	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tgaagcagcaggaccggctgGaggagcgagagcaggacatt	12	4	17	8	2	0	2	0	1	0	1	0	7	0	6	1	5	4	4	1	5	1	1			TCGA-HC-A8D1-01A-11D-A364-08	TCGA-HC-A8D1-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8e7248-e06a-4817-8199-d0a3a52e0a5f	d0e157eb-2d83-4028-9d45-cea626e62e21	g.chr10:104414440G>A	ENST00000302424.7	+	2	723	c.601G>A	c.(601-603)Gag>Aag	p.E201K	TRIM8_ENST00000487927.1_3'UTR	NM_030912.2	NP_112174.2	Q9BZR9	TRIM8_HUMAN	tripartite motif containing 8	201					innate immune response (GO:0045087)|negative regulation of viral entry into host cell (GO:0046597)|negative regulation of viral release from host cell (GO:1902187)|negative regulation of viral transcription (GO:0032897)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|PML body (GO:0016605)	identical protein binding (GO:0042802)|ligase activity (GO:0016874)|protein homodimerization activity (GO:0042803)|zinc ion binding (GO:0008270)			endometrium(4)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	15		Colorectal(252;0.122)		Epithelial(162;3.93e-09)|all cancers(201;1.02e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)		GGACCGGCTGGAGGAGCGAGA	0.592																																						ENST00000302424.6																			0				endometrium(4)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	15						c.(601-603)Gag>Aag		tripartite motif containing 8							167	157	160					10																	104414440		2203	4300	6503	SO:0001583	missense	81603					cytoplasm|PML body	ligase activity|protein homodimerization activity|zinc ion binding	g.chr10:104414440G>A	AF281046	CCDS31274.1	10q24.3	2013-01-09	2011-01-25	2002-06-14	ENSG00000171206	ENSG00000171206		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	15579	protein-coding gene	gene with protein product	"glioblastoma expressed ring finger protein"	606125	"ring finger protein 27", "tripartite motif-containing 8"	RNF27		11118312, 12163497	Standard	NM_030912		Approved	GERP	uc001kvz.2	Q9BZR9	OTTHUMG00000018964	ENST00000302424.7:c.601G>A	10.37:g.104414440G>A	ENSP00000302120:p.Glu201Lys					TRIM8_ENST00000487927.1_3'UTR	p.E201K	NM_030912.2	NP_112174.2	Q9BZR9	TRIM8_HUMAN		Epithelial(162;3.93e-09)|all cancers(201;1.02e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)	2	723	+		Colorectal(252;0.122)	201					A6NI31|Q9C028	Missense_Mutation	SNP	ENST00000302424.7	37	c.601G>A	CCDS31274.1	.	.	.	.	.	.	.	.	.	.	g	24.4	4.526871	0.85706	.	.	ENSG00000171206	ENST00000302424;ENST00000369896	T	0.55588	0.51	5.19	4.29	0.51040	.	0.057228	0.64402	D	0.000002	T	0.42268	0.1195	L	0.27053	0.805	0.58432	D	0.999999	P	0.52842	0.956	P	0.46718	0.525	T	0.18023	-1.0350	10	0.10377	T	0.69	.	13.9579	0.64162	0.0734:0.0:0.9266:0.0	.	201	Q9BZR9	TRIM8_HUMAN	K	201;200	ENSP00000302120:E201K	ENSP00000302120:E201K	E	+	1	0	TRIM8	104404430	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.409000	0.73289	1.221000	0.43506	-0.230000	0.12252	GAG		0.592	TRIM8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050084.3	NM_030912		17	114	0	0	0	1	0	17	114					A	104414440	G	A	104414440	3	1	255	1	0	0	0	0	1	0	0	0	16545	1175	41	3	607	3	TRIM8	10	104414440	Missense_Mutation	SNP	G	TCGA-HC-A8D1-01A-11D-A364-08	88764698	104414440	31120307	16	11942											
LUZP2	338645	broad.mit.edu	37	chr11	25071608	25071608	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacaaagtgcttctggaaacAatgagagctctcaagttgag	15	9	10	7	0	2	2	1	2	2	1	3	4	2	3	0	1	4	3	0	1	5	2			TCGA-HC-A8D1-01A-11D-A364-08	TCGA-HC-A8D1-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8e7248-e06a-4817-8199-d0a3a52e0a5f	d0e157eb-2d83-4028-9d45-cea626e62e21	g.chr11:25071608A>C	ENST00000336930.6	+	10	856	c.790A>C	c.(790-792)Aat>Cat	p.N264H	LUZP2_ENST00000533227.1_Missense_Mutation_p.N178H			Q86TE4	LUZP2_HUMAN	leucine zipper protein 2	264						extracellular region (GO:0005576)				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(11)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	32						TTCTGGAAACAATGAGAGCTC	0.353																																						ENST00000533227.1																			0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(11)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	32						c.(532-534)Aat>Cat		leucine zipper protein 2							92	91	92					11																	25071608		2203	4300	6503	SO:0001583	missense	338645					extracellular region		g.chr11:25071608A>C	AL832641	CCDS31446.1, CCDS58128.1	11p14.3	2005-09-18			ENSG00000187398	ENSG00000187398			23206	protein-coding gene	gene with protein product		608178				12856284	Standard	NM_001009909		Approved		uc001mqs.3	Q86TE4	OTTHUMG00000166109	ENST00000336930.6:c.790A>C	11.37:g.25071608A>C	ENSP00000336817:p.Asn264His					LUZP2_ENST00000336930.6_Missense_Mutation_p.N264H	p.N178H	NM_001009909.3|NM_001252008.1	NP_001009909.2|NP_001238937.1	Q86TE4	LUZP2_HUMAN			10	819	+			264			Leucine-zipper.		A2RUB8|E9PN53|Q6UXE7|Q6ZS65	Missense_Mutation	SNP	ENST00000336930.6	37	c.532A>C	CCDS31446.1	.	.	.	.	.	.	.	.	.	.	A	11.62	1.693625	0.30052	.	.	ENSG00000187398	ENST00000336930;ENST00000533227	T;T	0.43294	1.56;0.95	5.24	2.8	0.32819	.	0.803739	0.11408	N	0.567081	T	0.21674	0.0522	N	0.04508	-0.205	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.08055	0.003;0.002	T	0.20605	-1.0270	10	0.37606	T	0.19	-3.1886	9.5703	0.39425	0.657:0.343:0.0:0.0	.	178;264	E9PN53;Q86TE4	.;LUZP2_HUMAN	H	264;178	ENSP00000336817:N264H;ENSP00000432952:N178H	ENSP00000336817:N264H	N	+	1	0	LUZP2	25028184	0.001000	0.12720	0.000000	0.03702	0.632000	0.37999	0.873000	0.28052	0.341000	0.23771	0.528000	0.53228	AAT		0.353	LUZP2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387861.1	NM_001009909		4	45	0	0	0	1	0	4	45					C	25071608	A	C	25071608	3	2	255	1	0	0	0	0	1	0	0	0	9087	130	5	5	828	5	LUZP2	11	25071608	Missense_Mutation	SNP	A	TCGA-HC-A8D1-01A-11D-A364-08		25071608	109934908	17	11943											
RAG1	5896	broad.mit.edu	37	chr11	36594954	36594954	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aatggaaatttaagctgttcCgggtgagatcctttgaaaag	13	12	11	5	1	0	2	0	2	0	1	2	4	2	3	2	2	1	2	2	2	5	4			TCGA-HC-A8D1-01A-11D-A364-08	TCGA-HC-A8D1-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8e7248-e06a-4817-8199-d0a3a52e0a5f	d0e157eb-2d83-4028-9d45-cea626e62e21	g.chr11:36594954C>T	ENST00000299440.5	+	2	212	c.100C>T	c.(100-102)Cgg>Tgg	p.R34W		NM_000448.2	NP_000439	P15918	RAG1_HUMAN	recombination activating gene 1	34	Interaction with importin alpha-1.				adaptive immune response (GO:0002250)|B cell differentiation (GO:0030183)|DNA recombination (GO:0006310)|histone monoubiquitination (GO:0010390)|immune response (GO:0006955)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of thymocyte apoptotic process (GO:0070244)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|pre-B cell allelic exclusion (GO:0002331)|protein autoubiquitination (GO:0051865)|regulation of T cell differentiation (GO:0045580)|T cell differentiation in thymus (GO:0033077)|T cell homeostasis (GO:0043029)|thymus development (GO:0048538)|V(D)J recombination (GO:0033151)	nucleus (GO:0005634)	acid-amino acid ligase activity (GO:0016881)|DNA binding (GO:0003677)|endonuclease activity (GO:0004519)|histone binding (GO:0042393)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding (GO:0043565)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	65	all_lung(20;0.226)	all_hematologic(20;0.107)				TAAGCTGTTCCGGGTGAGATC	0.468									Familial Hemophagocytic Lymphohistiocytosis																												Pancreas(43;321 1249 3212 48200)|Esophageal Squamous(38;49 1003 17530 24363)	ENST00000299440.5																			0				NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	65						c.(100-102)Cgg>Tgg		recombination activating gene 1							50	55	53					11																	36594954		2202	4298	6500	SO:0001583	missense	5896	Familial Hemophagocytic Lymphohistiocytosis	Familial Cancer Database	FHLH, FHL, Familial Hemophagocytic Reticulosis, FHR	histone monoubiquitination|immune response|pre-B cell allelic exclusion|protein autoubiquitination|T cell differentiation in thymus|V(D)J recombination	nucleus	endonuclease activity|histone binding|protein homodimerization activity|sequence-specific DNA binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr11:36594954C>T	M29474	CCDS7902.1	11p13	2014-09-17				ENSG00000166349		"RING-type (C3HC4) zinc fingers"	9831	protein-coding gene	gene with protein product	"recombination activating protein 1", "RING finger protein 74", "V(D)J recombination-activating protein 1"	179615				1612612, 1283330	Standard	NM_000448		Approved	RNF74, MGC43321	uc001mwu.4	P15918		ENST00000299440.5:c.100C>T	11.37:g.36594954C>T	ENSP00000299440:p.Arg34Trp						p.R34W	NM_000448.2	NP_000439.1	P15918	RAG1_HUMAN			2	212	+	all_lung(20;0.226)	all_hematologic(20;0.107)	34			Interaction with importin alpha-1.		E9PPC4|Q8IY72|Q8NER2	Missense_Mutation	SNP	ENST00000299440.5	37	c.100C>T	CCDS7902.1	.	.	.	.	.	.	.	.	.	.	C	15.92	2.975790	0.53720	.	.	ENSG00000166349	ENST00000534663;ENST00000299440	T;T	0.75260	-0.92;-0.91	6.14	5.02	0.67125	.	0.101971	0.64402	D	0.000005	D	0.84624	0.5513	M	0.83012	2.62	0.48511	D	0.99966	D	0.76494	0.999	P	0.60541	0.876	D	0.86389	0.1734	10	0.87932	D	0	.	12.4113	0.55469	0.7216:0.2784:0.0:0.0	.	34	P15918	RAG1_HUMAN	W	34	ENSP00000434610:R34W;ENSP00000299440:R34W	ENSP00000299440:R34W	R	+	1	2	RAG1	36551530	1.000000	0.71417	1.000000	0.80357	0.840000	0.47671	3.422000	0.52749	1.159000	0.42565	-0.271000	0.10264	CGG		0.468	RAG1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389535.1	NM_000448		8	38	0	0	0	1	0	8	38					T	36594954	C	T	36594954	3	4	255	1	0	0	0	0	1	0	0	0	13003	643	23	2	102	2	RAG1	11	36594954	Missense_Mutation	SNP	C	TCGA-HC-A8D1-01A-11D-A364-08	11523346	36594954	98411562	18	11944											
FAT3	120114	broad.mit.edu	37	chr11	92085432	92085432	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attccatttataatgctaccGtgtatgagaactcagcagca	13	12	7	9	1	1	1	1	1	0	1	2	2	2	1	2	0	5	4	2	0	5	6	rs200399875		TCGA-HC-A8D1-01A-11D-A364-08	TCGA-HC-A8D1-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8e7248-e06a-4817-8199-d0a3a52e0a5f	d0e157eb-2d83-4028-9d45-cea626e62e21	g.chr11:92085432G>A	ENST00000298047.6	+	1	171	c.154G>A	c.(154-156)Gtg>Atg	p.V52M	FAT3_ENST00000525166.1_5'Flank|FAT3_ENST00000409404.2_Missense_Mutation_p.V52M|FAT3_ENST00000541502.1_Missense_Mutation_p.V52M			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	52	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				TAATGCTACCGTGTATGAGAA	0.488										TCGA Ovarian(4;0.039)																												ENST00000298047.6																			0				NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85						c.(154-156)Gtg>Atg		FAT atypical cadherin 3							69	69	69					11																	92085432		1940	4132	6072	SO:0001583	missense	120114				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr11:92085432G>A	AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"Cadherins / Cadherin-related"	23112	protein-coding gene	gene with protein product	"cadherin-related family member 10"	612483	"FAT tumor suppressor homolog 3 (Drosophila)"			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.154G>A	11.37:g.92085432G>A	ENSP00000298047:p.Val52Met	TCGA Ovarian(4;0.039)				FAT3_ENST00000409404.2_Missense_Mutation_p.V52M|FAT3_ENST00000541502.1_Missense_Mutation_p.V52M	p.V52M			Q8TDW7	FAT3_HUMAN			1	171	+		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)	52			Cadherin 1.		B5MDB0|Q96AU6	Missense_Mutation	SNP	ENST00000298047.6	37	c.154G>A		.	.	.	.	.	.	.	.	.	.	G	16.52	3.146411	0.57044	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000541502	T;T;T	0.66099	-0.19;-0.19;-0.19	5.61	5.61	0.85477	.	.	.	.	.	T	0.78929	0.4361	M	0.84433	2.695	0.35343	D	0.786633	D	0.67145	0.996	P	0.56648	0.803	D	0.85703	0.1314	9	0.72032	D	0.01	.	18.9894	0.92784	0.0:0.0:1.0:0.0	.	52	Q8TDW7-3	.	M	52	ENSP00000298047:V52M;ENSP00000387040:V52M;ENSP00000443786:V52M	ENSP00000298047:V52M	V	+	1	0	FAT3	91725080	1.000000	0.71417	0.998000	0.56505	0.993000	0.82548	3.161000	0.50747	2.802000	0.96397	0.655000	0.94253	GTG		0.488	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781		3	30	0	0	0	1	0	3	30					A	92085432	G	A	92085432	3	1	255	1	0	0	0	0	1	0	0	0	5691	1145	40	1	156	1	FAT3	11	92085432	Missense_Mutation	SNP	G	TCGA-HC-A8D1-01A-11D-A364-08	55490478	92085432	42921084	19	11945											
LRRK2	120892	broad.mit.edu	37	chr12	40697755	40697755	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgtgtattgttttagcttgcGgtctttagatatgagcagca	8	17	11	5	1	1	2	0	1	1	1	1	2	1	2	0	1	4	5	0	1	4	8			TCGA-HC-A8D1-01A-11D-A364-08	TCGA-HC-A8D1-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8e7248-e06a-4817-8199-d0a3a52e0a5f	d0e157eb-2d83-4028-9d45-cea626e62e21	g.chr12:40697755G>A	ENST00000298910.7	+	27	3654	c.3596G>A	c.(3595-3597)cGg>cAg	p.R1199Q	LRRK2_ENST00000343742.2_Missense_Mutation_p.R1199Q	NM_198578.3	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	1199					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|autophagy (GO:0006914)|cellular protein localization (GO:0034613)|cellular response to dopamine (GO:1903351)|cellular response to manganese ion (GO:0071287)|cellular response to oxidative stress (GO:0034599)|determination of adult lifespan (GO:0008340)|endocytosis (GO:0006897)|exploration behavior (GO:0035640)|GTP catabolic process (GO:0006184)|intracellular distribution of mitochondria (GO:0048312)|intracellular signal transduction (GO:0035556)|locomotory exploration behavior (GO:0035641)|MAPK cascade (GO:0000165)|negative regulation of GTPase activity (GO:0034260)|negative regulation of hydrogen peroxide-induced cell death (GO:1903206)|negative regulation of late endosome to lysosome transport (GO:1902823)|negative regulation of peroxidase activity (GO:2000469)|negative regulation of protein binding (GO:0032091)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein processing (GO:0010955)|negative regulation of protein processing involved in protein targeting to mitochondrion (GO:1903217)|negative regulation of protein targeting to mitochondrion (GO:1903215)|negative regulation of thioredoxin peroxidase activity by peptidyl-threonine phosphorylation (GO:1903125)|neuromuscular junction development (GO:0007528)|neuron death (GO:0070997)|neuron projection morphogenesis (GO:0048812)|olfactory bulb development (GO:0021772)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of autophagy (GO:0010508)|positive regulation of dopamine receptor signaling pathway (GO:0060161)|positive regulation of GTPase activity (GO:0043547)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of programmed cell death (GO:0043068)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein autoubiquitination (GO:1902499)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination (GO:0031398)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reactive oxygen species metabolic process (GO:0072593)|regulation of branching morphogenesis of a nerve (GO:2000172)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of dopamine receptor signaling pathway (GO:0060159)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of kidney size (GO:0035564)|regulation of locomotion (GO:0040012)|regulation of membrane potential (GO:0042391)|regulation of mitochondrial depolarization (GO:0051900)|regulation of neuroblast proliferation (GO:1902692)|regulation of neuron death (GO:1901214)|regulation of neuron maturation (GO:0014041)|regulation of protein kinase A signaling (GO:0010738)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of synaptic vesicle exocytosis (GO:2000300)|regulation of synaptic vesicle transport (GO:1902803)|response to oxidative stress (GO:0006979)|small GTPase mediated signal transduction (GO:0007264)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytoplasmic side of mitochondrial outer membrane (GO:0032473)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite (GO:0030425)|dendrite cytoplasm (GO:0032839)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|inclusion body (GO:0016234)|lysosome (GO:0005764)|membrane raft (GO:0045121)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)|terminal bouton (GO:0043195)|trans-Golgi network (GO:0005802)	actin binding (GO:0003779)|ATP binding (GO:0005524)|clathrin binding (GO:0030276)|glycoprotein binding (GO:0001948)|GTP binding (GO:0005525)|GTP-dependent protein kinase activity (GO:0034211)|GTPase activator activity (GO:0005096)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|kinase activity (GO:0016301)|MAP kinase kinase activity (GO:0004708)|peroxidase inhibitor activity (GO:0036479)|protein homodimerization activity (GO:0042803)|protein kinase A binding (GO:0051018)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|Rho GTPase binding (GO:0017048)|SNARE binding (GO:0000149)|syntaxin-1 binding (GO:0017075)|tubulin binding (GO:0015631)			NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				TTTAGCTTGCGGTCTTTAGAT	0.358																																						ENST00000298910.7																			0				NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181						c.(3595-3597)cGg>cAg		leucine-rich repeat kinase 2							71	73	72					12																	40697755		2203	4300	6503	SO:0001583	missense	120892				activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding	g.chr12:40697755G>A	AK026776	CCDS31774.1	12q12	2011-07-21			ENSG00000188906	ENSG00000188906		"Parkinson disease"	18618	protein-coding gene	gene with protein product		609007	"Parkinson disease (autosomal dominant) 8"	PARK8		15541308	Standard	NM_198578		Approved	ROCO2, DKFZp434H2111, FLJ45829, RIPK7	uc001rmg.4	Q5S007	OTTHUMG00000059742	ENST00000298910.7:c.3596G>A	12.37:g.40697755G>A	ENSP00000298910:p.Arg1199Gln					LRRK2_ENST00000343742.2_Missense_Mutation_p.R1199Q	p.R1199Q	NM_198578.3	NP_940980.3	Q5S007	LRRK2_HUMAN			27	3654	+	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)	1199					A6NJU2|Q6ZS50|Q8NCX9	Missense_Mutation	SNP	ENST00000298910.7	37	c.3596G>A	CCDS31774.1	.	.	.	.	.	.	.	.	.	.	G	31	5.080857	0.94050	.	.	ENSG00000188906	ENST00000343742;ENST00000298910	T;T	0.55760	0.5;1.83	5.37	5.37	0.77165	.	0.000000	0.85682	D	0.000000	T	0.54919	0.1888	N	0.04686	-0.185	0.58432	D	0.999998	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.80764	0.988;0.994;0.973	T	0.65639	-0.6119	10	0.56958	D	0.05	.	19.0716	0.93140	0.0:0.0:1.0:0.0	.	1199;1199;1199	Q17RV3;E9PC85;Q5S007	.;.;LRRK2_HUMAN	Q	1199	ENSP00000341930:R1199Q;ENSP00000298910:R1199Q	ENSP00000298910:R1199Q	R	+	2	0	LRRK2	38984022	1.000000	0.71417	1.000000	0.80357	0.933000	0.57130	9.175000	0.94831	2.677000	0.91161	0.557000	0.71058	CGG		0.358	LRRK2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277179.1	XM_058513		11	40	0	0	0	1	0	11	40					A	40697755	G	A	40697755	3	1	255	1	0	0	0	0	1	0	0	0	9033	1116	39	2	3702	2	LRRK2	12	40697755	Missense_Mutation	SNP	G	TCGA-HC-A8D1-01A-11D-A364-08		40697755	93154140	20	11946											
TBC1D15	64786	broad.mit.edu	37	chr12	72278651	72278651	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgttcagtttgacagaccTgaaatcaatcaagcaaaaca	16	9	6	10	0	3	3	3	2	0	1	3	3	3	3	2	0	2	3	2	0	5	2			TCGA-HC-A8D1-01A-11D-A364-08	TCGA-HC-A8D1-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8e7248-e06a-4817-8199-d0a3a52e0a5f	d0e157eb-2d83-4028-9d45-cea626e62e21	g.chr12:72278651T>C	ENST00000550746.1	+	5	468	c.404T>C	c.(403-405)cTg>cCg	p.L135P	TBC1D15_ENST00000485960.2_Missense_Mutation_p.L135P|TBC1D15_ENST00000393309.3_Intron|TBC1D15_ENST00000319106.8_Missense_Mutation_p.L143P	NM_001146213.1|NM_022771.4	NP_001139685.2|NP_073608.4	Q8TC07	TBC15_HUMAN	TBC1 domain family, member 15	135					positive regulation of Rab GTPase activity (GO:0032851)|regulation of Rab GTPase activity (GO:0032313)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	Rab GTPase activator activity (GO:0005097)			NS(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						TTGACAGACCTGAAATCAATC	0.403																																						ENST00000550746.1																			0				NS(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						c.(403-405)cTg>cCg		TBC1 domain family, member 15							187	181	183					12																	72278651		2203	4300	6503	SO:0001583	missense	64786						protein binding|Rab GTPase activator activity	g.chr12:72278651T>C	AL157464	CCDS31858.1, CCDS53814.1, CCDS55849.1	12q15	2013-07-09			ENSG00000121749	ENSG00000121749			25694	protein-coding gene	gene with protein product		612662				16055087	Standard	NM_022771		Approved	FLJ12085, DKFZp761D0223	uc001swu.3	Q8TC07	OTTHUMG00000158553	ENST00000550746.1:c.404T>C	12.37:g.72278651T>C	ENSP00000448182:p.Leu135Pro					TBC1D15_ENST00000393309.3_Intron|TBC1D15_ENST00000319106.8_Missense_Mutation_p.L143P|TBC1D15_ENST00000485960.2_Missense_Mutation_p.L135P	p.L135P	NM_001146213.1|NM_022771.4	NP_001139685.2|NP_073608.4	Q8TC07	TBC15_HUMAN			5	468	+			135					B4DMT9|B9A6L6|J3KNI9|Q9HA83	Missense_Mutation	SNP	ENST00000550746.1	37	c.404T>C	CCDS31858.1	.	.	.	.	.	.	.	.	.	.	T	24.7	4.557830	0.86231	.	.	ENSG00000121749	ENST00000482439;ENST00000550746;ENST00000491063;ENST00000319106;ENST00000485960	T;T;T;T;T	0.62364	0.03;0.03;0.03;0.03;0.03	5.76	5.76	0.90799	Domain of unknown function DUF3548 (1);	0.000000	0.64402	D	0.000001	T	0.78717	0.4327	M	0.73217	2.22	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;0.999	T	0.81143	-0.1067	10	0.87932	D	0	-14.3783	16.0665	0.80887	0.0:0.0:0.0:1.0	.	143;135;135	E9PH93;Q8TC07-2;Q8TC07	.;.;TBC15_HUMAN	P	36;135;36;143;135	ENSP00000449643:L36P;ENSP00000448182:L135P;ENSP00000418091:L36P;ENSP00000318262:L143P;ENSP00000420678:L135P	ENSP00000318262:L143P	L	+	2	0	TBC1D15	70564918	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.201000	0.77847	2.185000	0.69588	0.482000	0.46254	CTG		0.403	TBC1D15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000351266.2	NM_022771		3	34	0	0	0	1	0	3	34					C	72278651	T	C	72278651	3	2	255	1	0	0	0	0	1	0	0	0	15601	1580	55	4	546	4	TBC1D15	12	72278651	Missense_Mutation	SNP	T	TCGA-HC-A8D1-01A-11D-A364-08	31580896	72278651	61573244	21	11947											
NYNRIN	57523	broad.mit.edu	37	chr14	24884232	24884232	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccatccccagcaacttcaccGcactctccttcttcatgggc	7	10	5	19	1	4	0	2	0	2	0	6	0	5	0	5	1	2	2	5	1	1	3			TCGA-HC-A8D1-01A-11D-A364-08	TCGA-HC-A8D1-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8e7248-e06a-4817-8199-d0a3a52e0a5f	d0e157eb-2d83-4028-9d45-cea626e62e21	g.chr14:24884232G>A	ENST00000382554.3	+	9	3595	c.3277G>A	c.(3277-3279)Gca>Aca	p.A1093T		NM_025081.2	NP_079357.2	Q9P2P1	NYNRI_HUMAN	NYN domain and retroviral integrase containing	1093					DNA integration (GO:0015074)	integral component of membrane (GO:0016021)	nucleic acid binding (GO:0003676)			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						CAACTTCACCGCACTCTCCTT	0.617																																						ENST00000382554.3																			0				breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						c.(3277-3279)Gca>Aca		NYN domain and retroviral integrase containing							75	81	79					14																	24884232		2058	4211	6269	SO:0001583	missense	57523				DNA integration	integral to membrane	DNA binding	g.chr14:24884232G>A	AB037726	CCDS45090.1	14q11.2	2009-10-14	2009-10-14	2009-10-14		ENSG00000205978			20165	protein-coding gene	gene with protein product	"Cousin of GIN1"		"KIAA1305"	KIAA1305		19561090, 17114934	Standard	NM_025081		Approved	FLJ11811, CGIN1	uc001wpf.4	Q9P2P1		ENST00000382554.3:c.3277G>A	14.37:g.24884232G>A	ENSP00000371994:p.Ala1093Thr						p.A1093T	NM_025081.2	NP_079357.2	Q9P2P1	NYNRI_HUMAN			9	3595	+			1093					Q6P153|Q86TR3|Q9HAC4	Missense_Mutation	SNP	ENST00000382554.3	37	c.3277G>A	CCDS45090.1	.	.	.	.	.	.	.	.	.	.	G	10.22	1.291165	0.23564	.	.	ENSG00000205978	ENST00000382554	T	0.42900	0.96	4.45	3.53	0.40419	.	.	.	.	.	T	0.35248	0.0925	M	0.61703	1.905	0.09310	N	1	P	0.40083	0.702	B	0.29663	0.105	T	0.28808	-1.0032	9	0.72032	D	0.01	.	9.3615	0.38199	0.0:0.0:0.7867:0.2133	.	1093	Q9P2P1	NYNRI_HUMAN	T	1093	ENSP00000371994:A1093T	ENSP00000371994:A1093T	A	+	1	0	NYNRIN	23954072	0.977000	0.34250	0.010000	0.14722	0.931000	0.56810	3.062000	0.49971	1.038000	0.40049	0.561000	0.74099	GCA		0.617	NYNRIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412939.1			9	41	0	0	0	1	0	9	41					A	24884232	G	A	24884232	3	1	255	1	0	0	0	0	1	0	0	0	10796	1087	38	1	3307	1	NYNRIN	14	24884232	Missense_Mutation	SNP	G	TCGA-HC-A8D1-01A-11D-A364-08		24884232	82465308	22	11948											
PYCARD	29108	broad.mit.edu	37	chr16	31213083	31213083	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcatccgtcaggaccttcccGtacagagcatccagcagcca	10	7	8	16	2	2	1	2	0	0	1	5	2	5	2	5	1	4	3	5	1	1	2			TCGA-HC-A8D1-01A-11D-A364-08	TCGA-HC-A8D1-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8e7248-e06a-4817-8199-d0a3a52e0a5f	d0e157eb-2d83-4028-9d45-cea626e62e21	g.chr16:31213083G>A	ENST00000247470.9	-	3	712	c.411C>T	c.(409-411)taC>taT	p.Y137Y	PYCARD_ENST00000350605.4_Silent_p.Y118Y|C16orf98_ENST00000561916.2_5'Flank	NM_013258.4	NP_037390.2	Q9ULZ3	ASC_HUMAN	PYD and CARD domain containing	137	CARD. {ECO:0000255|PROSITE- ProRule:PRU00046}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of innate immune response (GO:0002218)|apoptotic process (GO:0006915)|cellular response to interleukin-1 (GO:0071347)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to tumor necrosis factor (GO:0071356)|defense response to Gram-negative bacterium (GO:0050829)|defense response to virus (GO:0051607)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|macropinocytosis (GO:0044351)|myeloid dendritic cell activation (GO:0001773)|myeloid dendritic cell activation involved in immune response (GO:0002277)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of interferon-beta production (GO:0032688)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of adaptive immune response (GO:0002821)|positive regulation of antigen processing and presentation of peptide antigen via MHC class II (GO:0002588)|positive regulation of apoptotic process (GO:0043065)|positive regulation of chemokine secretion (GO:0090197)|positive regulation of cysteine-type endopeptidase activity (GO:2001056)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of interleukin-10 secretion (GO:2001181)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-6 secretion (GO:2000778)|positive regulation of interleukin-8 secretion (GO:2000484)|positive regulation of JNK cascade (GO:0046330)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of phagocytosis (GO:0050766)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell migration (GO:2000406)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of intrinsic apoptotic signaling pathway (GO:2001242)|regulation of protein stability (GO:0031647)|regulation of tumor necrosis factor-mediated signaling pathway (GO:0010803)|signal transduction (GO:0007165)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	AIM2 inflammasome complex (GO:0097169)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|IkappaB kinase complex (GO:0008385)|mitochondrion (GO:0005739)|NLRP1 inflammasome complex (GO:0072558)|NLRP3 inflammasome complex (GO:0072559)|nucleolus (GO:0005730)|nucleus (GO:0005634)	cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|protein homodimerization activity (GO:0042803)|Pyrin domain binding (GO:0032090)			NS(1)|kidney(1)	2						GGACCTTCCCGTACAGAGCAT	0.592																																						ENST00000247470.9																			0				NS(1)|kidney(1)	2						c.(409-411)taC>taT		PYD and CARD domain containing							87	78	81					16																	31213083		2197	4300	6497	SO:0001819	synonymous_variant	29108				induction of apoptosis|positive regulation of interleukin-1 beta secretion|positive regulation of NF-kappaB transcription factor activity|proteolysis|tumor necrosis factor-mediated signaling pathway	IkappaB kinase complex	caspase activator activity|cysteine-type endopeptidase activity|protein homodimerization activity|Pyrin domain binding	g.chr16:31213083G>A	AB023416	CCDS10708.1, CCDS10709.1	16p11.2	2013-01-22			ENSG00000103490	ENSG00000103490			16608	protein-coding gene	gene with protein product		606838					Standard	NM_013258		Approved	TMS-1, CARD5, ASC	uc010cak.3	Q9ULZ3	OTTHUMG00000176753	ENST00000247470.9:c.411C>T	16.37:g.31213083G>A						PYCARD_ENST00000350605.4_Silent_p.Y118Y	p.Y137Y	NM_013258.4	NP_037390.2	Q9ULZ3	ASC_HUMAN			3	712	-			137			CARD.		Q96D12|Q9BSZ5|Q9HBD0|Q9NXJ8	Silent	SNP	ENST00000247470.9	37	c.411C>T	CCDS10708.1																																																																																				0.592	PYCARD-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255539.13	NM_013258		3	52	0	0	0	1	0	3	52					A	31213083	G	A	31213083	2	1	255	1	0	0	0	0	0	0	0	1	12854	1140	40	1		1	PYCARD	16	31213083	Silent	SNP	G	TCGA-HC-A8D1-01A-11D-A364-08		31213083	59141670	23	11949											
USP10	9100	broad.mit.edu	37	chr16	84778363	84778363	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	caggcccctgaatttattctCggttgtacagcttccaaaat	10	13	7	11	1	1	1	0	1	1	0	3	1	2	1	3	2	2	3	3	2	5	6			TCGA-HC-A8D1-01A-11D-A364-08	TCGA-HC-A8D1-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8e7248-e06a-4817-8199-d0a3a52e0a5f	d0e157eb-2d83-4028-9d45-cea626e62e21	g.chr16:84778363C>T	ENST00000219473.7	+	4	389	c.276C>T	c.(274-276)ctC>ctT	p.L92L	USP10_ENST00000570191.1_Silent_p.L96L|USP10_ENST00000562743.1_3'UTR	NM_001272075.1|NM_005153.2	NP_001259004.1|NP_005144.2	Q14694	UBP10_HUMAN	ubiquitin specific peptidase 10	92	Interaction with p53/TP53.				autophagy (GO:0006914)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA repair (GO:0006281)|protein deubiquitination (GO:0016579)|regulation of autophagy (GO:0010506)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|ion channel binding (GO:0044325)|p53 binding (GO:0002039)|poly(A) RNA binding (GO:0044822)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			endometrium(3)|kidney(1)|large_intestine(7)|lung(3)|prostate(1)|stomach(1)|urinary_tract(1)	17						AATTTATTCTCGGTTGTACAG	0.498																																						ENST00000219473.7																			0				endometrium(3)|kidney(1)|large_intestine(7)|lung(3)|prostate(1)|stomach(1)|urinary_tract(1)	17						c.(274-276)ctC>ctT		ubiquitin specific peptidase 10							66	66	66					16																	84778363		1839	4079	5918	SO:0001819	synonymous_variant	9100				DNA damage response, signal transduction by p53 class mediator|DNA repair|protein deubiquitination|ubiquitin-dependent protein catabolic process	early endosome|intermediate filament cytoskeleton|nucleus	cystic fibrosis transmembrane conductance regulator binding|p53 binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr16:84778363C>T	D80012	CCDS45537.1, CCDS62004.1	16q	2008-03-25	2005-08-08			ENSG00000103194		"Ubiquitin-specific peptidases"	12608	protein-coding gene	gene with protein product		609818	"ubiquitin specific protease 10"			12838346	Standard	NM_005153		Approved	UBPO, KIAA0190	uc002fii.3	Q14694		ENST00000219473.7:c.276C>T	16.37:g.84778363C>T						USP10_ENST00000570191.1_Silent_p.L96L|USP10_ENST00000562743.1_3'UTR	p.L92L	NM_001272075.1|NM_005153.2	NP_001259004.1|NP_005144.2	Q14694	UBP10_HUMAN			4	389	+			92			Interaction with p53/TP53.		B2RDJ8|B4DS84|Q9BWG7|Q9NSL7	Silent	SNP	ENST00000219473.7	37	c.276C>T	CCDS45537.1																																																																																				0.498	USP10-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433660.1			9	42	0	0	0	1	0	9	42					T	84778363	C	T	84778363	2	4	255	1	0	0	0	0	0	0	0	1	17038	871	31	2		2	USP10	16	84778363	Silent	SNP	C	TCGA-HC-A8D1-01A-11D-A364-08	53565280	84778363	5576390	24	11950											
FASN	2194	broad.mit.edu	37	chr17	80047029	80047029	+	Frame_Shift_Del	DEL	G	G	-																															tgagccagcgggctgaacgtGgcttcggctcccggatcacc																								rs144627566		TCGA-HC-A8D1-01A-11D-A364-08	TCGA-HC-A8D1-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8e7248-e06a-4817-8199-d0a3a52e0a5f	d0e157eb-2d83-4028-9d45-cea626e62e21	g.chr17:80047029delG	ENST00000306749.2	-	14	2338	c.2120delC	c.(2119-2121)ccafs	p.P707fs		NM_004104.4	NP_004095.4	P49327	FAS_HUMAN	fatty acid synthase	707	Acyl and malonyl transferases. {ECO:0000250}.				acetyl-CoA metabolic process (GO:0006084)|cellular lipid metabolic process (GO:0044255)|cellular response to interleukin-4 (GO:0071353)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|fatty acid metabolic process (GO:0006631)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|osteoblast differentiation (GO:0001649)|pantothenate metabolic process (GO:0015939)|positive regulation of cellular metabolic process (GO:0031325)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|glycogen granule (GO:0042587)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	3-hydroxyoctanoyl-[acyl-carrier-protein] dehydratase activity (GO:0047451)|3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity (GO:0004317)|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity (GO:0004316)|3-oxoacyl-[acyl-carrier-protein] synthase activity (GO:0004315)|[acyl-carrier-protein] S-acetyltransferase activity (GO:0004313)|[acyl-carrier-protein] S-malonyltransferase activity (GO:0004314)|drug binding (GO:0008144)|enoyl-[acyl-carrier-protein] reductase (NADPH, A-specific) activity (GO:0047117)|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity (GO:0004319)|fatty acid synthase activity (GO:0004312)|myristoyl-[acyl-carrier-protein] hydrolase activity (GO:0016295)|NADPH binding (GO:0070402)|oleoyl-[acyl-carrier-protein] hydrolase activity (GO:0004320)|palmitoyl-[acyl-carrier-protein] hydrolase activity (GO:0016296)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1)	34	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		Cerulenin(DB01034)|Orlistat(DB01083)	GGCTGAACGTGGCTTCGGCTC	0.667																																					Colon(59;314 1043 11189 28578 32273)	ENST00000306749.2																			0				central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1)	34						c.(2119-2121)cafs		fatty acid synthase	Cerulenin(DB01034)|Orlistat(DB01083)|Pyrazinamide(DB00339)						42	41	41					17																	80047029		2167	4267	6434	SO:0001589	frameshift_variant	2194				energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|pantothenate metabolic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	cytosol|Golgi apparatus|melanosome|plasma membrane	3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity|3-oxoacyl-[acyl-carrier-protein] synthase activity|[acyl-carrier-protein] S-acetyltransferase activity|[acyl-carrier-protein] S-malonyltransferase activity|acyl carrier activity|cofactor binding|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity|myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity|phosphopantetheine binding|protein binding|zinc ion binding	g.chr17:80047029delG	U26644	CCDS11801.1	17q25	2012-01-31			ENSG00000169710	ENSG00000169710	2.3.1.85	"Short chain dehydrogenase/reductase superfamily / Atypical members"	3594	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 27X, member 1"	600212				7835891, 7567999, 19027726	Standard	NM_004104		Approved	FAS, SDR27X1	uc002kdu.3	P49327		ENST00000306749.2:c.2120delC	17.37:g.80047029delG	ENSP00000304592:p.Pro707fs						p.P707fs	NM_004104.4	NP_004095.4	P49327	FAS_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		14	2338	-	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		707			Acyl and malonyl transferases (By similarity).		Q13479|Q16702|Q4LE83|Q6P4U5|Q6SS02|Q969R1|Q96C68|Q96IT0	Frame_Shift_Del	DEL	ENST00000306749.2	37	c.2120delC	CCDS11801.1																																																																																				0.667	FASN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442369.1	NM_004104		5	9						5	9	---	---	---	---	-	80047029	G	-	80047029	7	5	255	1	0	1	0	1	0	0	0	0	5683	1348	47	0	5535	0	FASN	17	80047029	Frame_Shift_Del	DEL	G	TCGA-HC-A8D1-01A-11D-A364-08		80047029	1148181	25	11951											
GATA6	2627	broad.mit.edu	37	chr18	19751408	19751408	+	Frame_Shift_Del	DEL	C	C	-																															tcggcgcctggggtcgcgggCcccgggggcaacctgtcgag																										TCGA-HC-A8D1-01A-11D-A364-08	TCGA-HC-A8D1-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8e7248-e06a-4817-8199-d0a3a52e0a5f	d0e157eb-2d83-4028-9d45-cea626e62e21	g.chr18:19751408delC	ENST00000269216.3	+	2	580	c.303delC	c.(301-303)ggcfs	p.G101fs	GATA6_ENST00000581694.1_Frame_Shift_Del_p.G101fs|GATA6-AS1_ENST00000583490.1_lincRNA	NM_005257.4	NP_005248.2	Q92908	GATA6_HUMAN	GATA binding protein 6	101					blood coagulation (GO:0007596)|cardiac muscle cell differentiation (GO:0055007)|cardiac muscle hypertrophy in response to stress (GO:0014898)|cardiac vascular smooth muscle cell differentiation (GO:0060947)|cellular response to BMP stimulus (GO:0071773)|cellular response to gonadotropin stimulus (GO:0071371)|cellular response to hypoxia (GO:0071456)|Clara cell differentiation (GO:0060486)|endodermal cell fate determination (GO:0007493)|in utero embryonic development (GO:0001701)|intestinal epithelial cell differentiation (GO:0060575)|liver development (GO:0001889)|lung saccule development (GO:0060430)|male gonad development (GO:0008584)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta1 production (GO:0032911)|negative regulation of transforming growth factor beta2 production (GO:0032912)|organ formation (GO:0048645)|outflow tract septum morphogenesis (GO:0003148)|pancreatic A cell differentiation (GO:0003310)|phospholipid metabolic process (GO:0006644)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cardioblast differentiation (GO:0051891)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to growth factor (GO:0070848)|smooth muscle cell differentiation (GO:0051145)|transcription from RNA polymerase II promoter (GO:0006366)|tube morphogenesis (GO:0035239)|type B pancreatic cell differentiation (GO:0003309)|Type II pneumocyte differentiation (GO:0060510)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|protein kinase binding (GO:0019901)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(8)|prostate(1)|skin(1)	18	all_cancers(21;0.00271)|all_epithelial(16;7.31e-05)|Ovarian(2;0.116)|Lung NSC(20;0.123)|all_lung(20;0.246)		STAD - Stomach adenocarcinoma(5;0.106)			GGGTCGCGGGCCCCGGGGGCA	0.726																																					Colon(8;48 282 46199 46856)|Melanoma(177;170 2725 12489 26999)	ENST00000269216.3																			0				NS(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(8)|prostate(1)|skin(1)	18						c.(301-303)ggfs		GATA binding protein 6							6	9	8					18																	19751408		1887	3973	5860	SO:0001589	frameshift_variant	2627				blood coagulation|cardiac vascular smooth muscle cell differentiation|cellular response to hypoxia|intestinal epithelial cell differentiation|male gonad development|negative regulation of apoptosis|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor-beta1 production|negative regulation of transforming growth factor-beta2 production|outflow tract septum morphogenesis|positive regulation of angiogenesis|positive regulation of cell cycle arrest|positive regulation of transcription from RNA polymerase II promoter|response to drug|response to growth factor stimulus		protein binding|protein kinase binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding	g.chr18:19751408delC	U66075	CCDS11872.1	18q11-q12	2013-01-25	2001-11-28		ENSG00000141448	ENSG00000141448		"GATA zinc finger domain containing"	4174	protein-coding gene	gene with protein product		601656	"GATA-binding protein 6"			8975704	Standard	XM_005258248		Approved		uc002ktt.2	Q92908	OTTHUMG00000131767	ENST00000269216.3:c.303delC	18.37:g.19751408delC	ENSP00000269216:p.Gly101fs					GATA6_ENST00000581694.1_Frame_Shift_Del_p.G101fs	p.G101fs	NM_005257.4	NP_005248.2	Q92908	GATA6_HUMAN	STAD - Stomach adenocarcinoma(5;0.106)		2	580	+	all_cancers(21;0.00271)|all_epithelial(16;7.31e-05)|Ovarian(2;0.116)|Lung NSC(20;0.123)|all_lung(20;0.246)		101					B0YJ17|P78327	Frame_Shift_Del	DEL	ENST00000269216.3	37	c.303delC	CCDS11872.1																																																																																				0.726	GATA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254696.1	NM_005257		2	4						2	4	---	---	---	---	-	19751408	C	-	19751408	7	5	255	1	0	1	0	1	0	0	0	0	6258	726	26	0	305	0	GATA6	18	19751408	Frame_Shift_Del	DEL	C	TCGA-HC-A8D1-01A-11D-A364-08		19751408	58325840	26	11952											
CLPTM1	1209	broad.mit.edu	37	chr19	45494556	45494556	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggctgctatgccgtctacAgtcttctgtacctggagcac	6	12	11	12	1	3	0	0	0	3	0	3	1	3	1	2	2	5	4	2	2	3	4			TCGA-HC-A8D1-01A-11D-A364-08	TCGA-HC-A8D1-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8e7248-e06a-4817-8199-d0a3a52e0a5f	d0e157eb-2d83-4028-9d45-cea626e62e21	g.chr19:45494556A>G	ENST00000337392.5	+	12	1630	c.1480A>G	c.(1480-1482)Agt>Ggt	p.S494G	CLPTM1_ENST00000546079.1_Missense_Mutation_p.S392G|CLPTM1_ENST00000541297.2_Missense_Mutation_p.S480G	NM_001282175.1|NM_001282176.1|NM_001294.2	NP_001269104.1|NP_001269105.1|NP_001285.1	O96005	CLPT1_HUMAN	cleft lip and palate associated transmembrane protein 1	494				S -> G (in Ref. 3; BAG52034). {ECO:0000305}.	cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|regulation of T cell differentiation in thymus (GO:0033081)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00354)|Epithelial(262;0.187)		TGCCGTCTACAGTCTTCTGTA	0.637																																						ENST00000541297.2																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						c.(1438-1440)Agt>Ggt		cleft lip and palate associated transmembrane protein 1							242	209	220					19																	45494556		2203	4300	6503	SO:0001583	missense	1209				cell differentiation|multicellular organismal development|regulation of T cell differentiation in thymus	external side of plasma membrane|integral to plasma membrane		g.chr19:45494556A>G	AF037339	CCDS12651.1, CCDS74394.1, CCDS74395.1	19q13.3	2008-02-05				ENSG00000104853			2087	protein-coding gene	gene with protein product		604783				9828125	Standard	NM_001294		Approved		uc002pai.3	O96005		ENST00000337392.5:c.1480A>G	19.37:g.45494556A>G	ENSP00000336994:p.Ser494Gly					CLPTM1_ENST00000337392.5_Missense_Mutation_p.S494G|CLPTM1_ENST00000546079.1_Missense_Mutation_p.S392G	p.S480G			O96005	CLPT1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00354)|Epithelial(262;0.187)	12	1903	+		all_neural(266;0.224)|Ovarian(192;0.231)	494					B3KQH2|B4DDS3|B4E2X9|B7Z9X9|F5H8J3|Q53ET6|Q9BSS5	Missense_Mutation	SNP	ENST00000337392.5	37	c.1438A>G	CCDS12651.1	.	.	.	.	.	.	.	.	.	.	A	26.2	4.718971	0.89205	.	.	ENSG00000104853	ENST00000546079;ENST00000541297;ENST00000337392;ENST00000347493	.	.	.	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	D	0.85974	0.5822	H	0.94345	3.525	0.80722	D	1	D;D	0.65815	0.994;0.995	D;D	0.72338	0.949;0.977	D	0.89664	0.3879	9	0.87932	D	0	-36.235	13.6308	0.62193	1.0:0.0:0.0:0.0	.	480;494	F5H8J3;O96005	.;CLPT1_HUMAN	G	392;480;494;494	.	ENSP00000336994:S494G	S	+	1	0	CLPTM1	50186396	1.000000	0.71417	1.000000	0.80357	0.875000	0.50365	8.546000	0.90661	2.109000	0.64355	0.529000	0.55759	AGT		0.637	CLPTM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453267.1	NM_001294		25	118	0	0	0	1	0	25	118					G	45494556	A	G	45494556	3	3	255	1	0	0	0	0	1	0	0	0	3554	188	7	4	1526	4	CLPTM1	19	45494556	Missense_Mutation	SNP	A	TCGA-HC-A8D1-01A-11D-A364-08		45494556	13634427	27	11953											
SIGLEC1	6614	broad.mit.edu	37	chr20	3673297	3673297	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcagctggaccctcctgcaGccaacgaccgttgtggtacc	7	7	12	15	2	0	0	0	0	0	0	1	2	1	1	5	3	5	5	5	3	2	2			TCGA-HC-A8D1-01A-11D-A364-08	TCGA-HC-A8D1-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8e7248-e06a-4817-8199-d0a3a52e0a5f	d0e157eb-2d83-4028-9d45-cea626e62e21	g.chr20:3673297G>A	ENST00000344754.4	-	15	3900	c.3901C>T	c.(3901-3903)Ctg>Ttg	p.L1301L	SIGLEC1_ENST00000202578.4_Silent_p.L1301L	NM_023068.3	NP_075556.1	Q9BZZ2	SN_HUMAN	sialic acid binding Ig-like lectin 1, sialoadhesin	1301	Ig-like C2-type 13.				cell-matrix adhesion (GO:0007160)|endocytosis (GO:0006897)|inflammatory response (GO:0006954)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of T cell apoptotic process (GO:0070234)|single organismal cell-cell adhesion (GO:0016337)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)	70						CCCTCCTGCAGCCAACGACCG	0.657																																						ENST00000344754.4																			0				NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)	70						c.(3901-3903)Ctg>Ttg		sialic acid binding Ig-like lectin 1, sialoadhesin							47	47	47					20																	3673297		2203	4300	6503	SO:0001819	synonymous_variant	6614				cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response	extracellular region|integral to membrane|plasma membrane	sugar binding	g.chr20:3673297G>A	AF230073	CCDS13060.1	20p13	2013-01-29	2006-01-19	2006-01-19	ENSG00000088827	ENSG00000088827		"CD molecules", "Sialic acid binding Ig-like lectins", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	11127	protein-coding gene	gene with protein product		600751	"sialoadhesin"	SN		8530048	Standard	XM_006723610		Approved	SIGLEC-1, CD169, FLJ00051, FLJ00055, FLJ00073, FLJ32150, dJ1009E24.1, sialoadhesin	uc002wja.3	Q9BZZ2	OTTHUMG00000031757	ENST00000344754.4:c.3901C>T	20.37:g.3673297G>A						SIGLEC1_ENST00000202578.4_Silent_p.L1301L	p.L1301L	NM_023068.3	NP_075556.1	Q9BZZ2	SN_HUMAN			15	3900	-			1301			Ig-like C2-type 13.		Q96DL4|Q9GZS5|Q9H1H6|Q9H1H7|Q9H7L7	Silent	SNP	ENST00000344754.4	37	c.3901C>T	CCDS13060.1	.	.	.	.	.	.	.	.	.	.	G	1.875	-0.459254	0.04508	.	.	ENSG00000088827	ENST00000419548	.	.	.	5.71	4.74	0.60224	.	.	.	.	.	T	0.57021	0.2025	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.55270	-0.8167	4	.	.	.	.	7.2786	0.26297	0.0843:0.0:0.7454:0.1703	.	.	.	.	V	114	.	.	A	-	2	0	SIGLEC1	3621297	1.000000	0.71417	1.000000	0.80357	0.190000	0.23558	1.451000	0.35145	1.376000	0.46267	0.655000	0.94253	GCT		0.657	SIGLEC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077761.2	NM_023068		3	12	0	0	0	1	0	3	12					A	3673297	G	A	3673297	2	1	255	1	0	0	0	0	0	0	0	1	14305	962	34	3		3	SIGLEC1	20	3673297	Silent	SNP	G	TCGA-HC-A8D1-01A-11D-A364-08		3673297	59352223	28	11954											
SEL1L2	80343	broad.mit.edu	37	chr20	13894588	13894588	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ctttggcaaaaagtaggtagGctctgtttcaagaatataaa	15	12	9	5	0	2	1	1	0	1	1	2	1	2	1	0	3	0	5	0	3	9	6			TCGA-HC-A8D1-01A-11D-A364-08	TCGA-HC-A8D1-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8e7248-e06a-4817-8199-d0a3a52e0a5f	d0e157eb-2d83-4028-9d45-cea626e62e21	g.chr20:13894588G>A	ENST00000284951.5	-	5	463	c.389C>T	c.(388-390)gCc>gTc	p.A130V	SEL1L2_ENST00000378072.5_Missense_Mutation_p.A130V|SEL1L2_ENST00000486903.1_5'UTR			Q5TEA6	SE1L2_HUMAN	sel-1 suppressor of lin-12-like 2 (C. elegans)	130						integral component of membrane (GO:0016021)				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	51						AAGTAGGTAGGCTCTGTTTCA	0.353																																						ENST00000284951.5																			0				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	51						c.(388-390)gCc>gTc		sel-1 suppressor of lin-12-like 2 (C. elegans)							56	52	53					20																	13894588		1815	4083	5898	SO:0001583	missense	80343					integral to membrane	binding	g.chr20:13894588G>A	AL137678	CCDS59443.1	20p12.1	2011-03-31	2006-11-24	2006-11-24	ENSG00000101251	ENSG00000101251			15897	protein-coding gene	gene with protein product		614289	"chromosome 20 open reading frame 50"	C20orf50			Standard	NM_001271539		Approved	DKFZp434C1826	uc010zrl.3	Q5TEA6	OTTHUMG00000031910	ENST00000284951.5:c.389C>T	20.37:g.13894588G>A	ENSP00000284951:p.Ala130Val					SEL1L2_ENST00000486903.1_5'UTR|SEL1L2_ENST00000378072.5_Missense_Mutation_p.A130V	p.A130V			Q5TEA6	SE1L2_HUMAN			5	463	-			130					B4DXX5	Missense_Mutation	SNP	ENST00000284951.5	37	c.389C>T		.	.	.	.	.	.	.	.	.	.	G	25.5	4.648216	0.87958	.	.	ENSG00000101251	ENST00000378072;ENST00000284951;ENST00000473203	T;T;T	0.81078	-0.71;-0.71;-1.45	6.17	6.17	0.99709	Tetratricopeptide-like helical (1);	0.000000	0.52532	D	0.000065	D	0.84032	0.5383	L	0.27053	0.805	0.51233	D	0.999911	D;D	0.89917	1.0;0.999	D;D	0.83275	0.993;0.996	D	0.84022	0.0354	10	0.51188	T	0.08	-4.8075	16.3795	0.83443	0.0:0.0:1.0:0.0	.	130;130	B4DXX5;Q5TEA6	.;SE1L2_HUMAN	V	130;130;18	ENSP00000367312:A130V;ENSP00000284951:A130V;ENSP00000420372:A18V	ENSP00000284951:A130V	A	-	2	0	SEL1L2	13842588	1.000000	0.71417	1.000000	0.80357	0.906000	0.53458	5.175000	0.65021	2.941000	0.99782	0.655000	0.94253	GCC		0.353	SEL1L2-002	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078067.3	NM_025229		3	31	0	0	0	1	0	3	31					A	13894588	G	A	13894588	3	1	255	1	0	0	0	0	1	0	0	0	14011	1203	42	3	1741	3	SEL1L2	20	13894588	Missense_Mutation	SNP	G	TCGA-HC-A8D1-01A-11D-A364-08	10221291	13894588	49130932	29	11955											
GAL3ST1	9514	broad.mit.edu	37	chr22	30950959	30950959	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcaccaccgcaggaaatcgCgaatgaacttccagagcttg	12	7	10	12	3	1	2	1	1	0	1	3	4	2	3	3	1	2	2	3	1	3	2			TCGA-HC-A8D1-01A-11D-A364-08	TCGA-HC-A8D1-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8e7248-e06a-4817-8199-d0a3a52e0a5f	d0e157eb-2d83-4028-9d45-cea626e62e21	g.chr22:30950959C>T	ENST00000402321.1	-	3	1570	c.1253G>A	c.(1252-1254)cGc>cAc	p.R418H	GAL3ST1_ENST00000338911.5_Missense_Mutation_p.R418H|GAL3ST1_ENST00000402369.1_Missense_Mutation_p.R418H|GAL3ST1_ENST00000401975.1_Missense_Mutation_p.R418H|GAL3ST1_ENST00000406361.1_Missense_Mutation_p.R418H|GAL3ST1_ENST00000406955.1_Missense_Mutation_p.R418H|GAL3ST1_ENST00000443111.2_Missense_Mutation_p.R418H			Q99999	G3ST1_HUMAN	galactose-3-O-sulfotransferase 1	418				R -> L (in Ref. 1; AA sequence). {ECO:0000305}.	galactosylceramide biosynthetic process (GO:0006682)|glycosphingolipid metabolic process (GO:0006687)|myelination (GO:0042552)|protein N-linked glycosylation (GO:0006487)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)|sphingolipid metabolic process (GO:0006665)	Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	galactosylceramide sulfotransferase activity (GO:0001733)|sulfotransferase activity (GO:0008146)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	21						CAGGAAATCGCGAATGAACTT	0.687																																						ENST00000402321.1																			0				NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	21						c.(1252-1254)cGc>cAc		galactose-3-O-sulfotransferase 1							51	46	48					22																	30950959		2203	4300	6503	SO:0001583	missense	9514				protein N-linked glycosylation	Golgi membrane|integral to plasma membrane|membrane fraction	galactosylceramide sulfotransferase activity	g.chr22:30950959C>T	D88667	CCDS13879.1	22q12.2	2007-04-02			ENSG00000128242	ENSG00000128242		"Sulfotransferases, membrane-bound"	24240	protein-coding gene	gene with protein product	"cerebroside (3' phosphoadenylylsulfate:galactosylceramide 3') sulfotransferase"	602300				9847074, 9030544	Standard	NM_004861		Approved	CST	uc003aii.1	Q99999	OTTHUMG00000151200	ENST00000402321.1:c.1253G>A	22.37:g.30950959C>T	ENSP00000385735:p.Arg418His					GAL3ST1_ENST00000338911.5_Missense_Mutation_p.R418H|GAL3ST1_ENST00000406361.1_Missense_Mutation_p.R418H|GAL3ST1_ENST00000401975.1_Missense_Mutation_p.R418H|GAL3ST1_ENST00000406955.1_Missense_Mutation_p.R418H|GAL3ST1_ENST00000402369.1_Missense_Mutation_p.R418H|GAL3ST1_ENST00000443111.2_Missense_Mutation_p.R418H	p.R418H			Q99999	G3ST1_HUMAN			3	1570	-			418	R -> L (in Ref. 1; AA sequence).				Q96C63	Missense_Mutation	SNP	ENST00000402321.1	37	c.1253G>A	CCDS13879.1	.	.	.	.	.	.	.	.	.	.	c	20.2	3.949488	0.73787	.	.	ENSG00000128242	ENST00000406955;ENST00000402321;ENST00000402369;ENST00000401975;ENST00000338911;ENST00000406361;ENST00000443111	T;T;T;T;T;T;T	0.20463	2.07;2.07;2.07;2.07;2.07;2.07;2.07	5.73	4.7	0.59300	.	0.000000	0.85682	D	0.000000	T	0.45836	0.1362	M	0.72479	2.2	0.80722	D	1	D	0.89917	1.0	D	0.70716	0.97	T	0.49899	-0.8890	10	0.72032	D	0.01	-27.2137	15.7748	0.78204	0.1377:0.8623:0.0:0.0	.	418	Q99999	G3ST1_HUMAN	H	418	ENSP00000385825:R418H;ENSP00000385735:R418H;ENSP00000384122:R418H;ENSP00000384388:R418H;ENSP00000343234:R418H;ENSP00000385207:R418H;ENSP00000402587:R418H	ENSP00000343234:R418H	R	-	2	0	GAL3ST1	29280959	1.000000	0.71417	0.278000	0.24718	0.865000	0.49528	5.736000	0.68597	1.409000	0.46915	0.561000	0.74099	CGC		0.687	GAL3ST1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321745.1	NM_004861		6	15	0	0	0	1	0	6	15					T	30950959	C	T	30950959	3	4	255	1	0	0	0	0	1	0	0	0	6197	768	27	1	22	1	GAL3ST1	22	30950959	Missense_Mutation	SNP	C	TCGA-HC-A8D1-01A-11D-A364-08		30950959	20353607	30	11956											
LARGE	9215	broad.mit.edu	37	chr22	33700368	33700368	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtggtagcccacgttgtggCggctcataagcacctcagag	8	9	13	11	2	2	1	2	0	0	1	2	1	2	1	2	3	2	4	2	3	2	3	rs536420427		TCGA-HC-A8D1-01A-11D-A364-08	TCGA-HC-A8D1-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8e7248-e06a-4817-8199-d0a3a52e0a5f	d0e157eb-2d83-4028-9d45-cea626e62e21	g.chr22:33700368C>T	ENST00000354992.2	-	13	2148	c.1577G>A	c.(1576-1578)cGc>cAc	p.R526H	LARGE_ENST00000397394.2_Missense_Mutation_p.R526H|LARGE_ENST00000452586.2_Missense_Mutation_p.R325H|LARGE_ENST00000402320.1_Missense_Mutation_p.R474H|LARGE_ENST00000437602.2_Missense_Mutation_p.R526H|LARGE_ENST00000337431.2_Missense_Mutation_p.R474H	NM_004737.4	NP_004728.1	O95461	LARGE_HUMAN	like-glycosyltransferase	526					glycoprotein biosynthetic process (GO:0009101)|glycosphingolipid biosynthetic process (GO:0006688)|muscle cell cellular homeostasis (GO:0046716)|N-acetylglucosamine metabolic process (GO:0006044)|protein glycosylation (GO:0006486)	integral component of Golgi membrane (GO:0030173)	acetylglucosaminyltransferase activity (GO:0008375)|transferase activity, transferring glycosyl groups (GO:0016757)			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Lung NSC(1;0.219)				CACGTTGTGGCGGCTCATAAG	0.617													C|||	1	0.000199681	0	0	5008	,	,		20507	0.001		0	False		,,,				2504	0				Colon(70;397 1175 4573 19089 45288)	ENST00000354992.2																			0				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						c.(1576-1578)cGc>cAc		like-glycosyltransferase							123	97	106					22																	33700368		2203	4300	6503	SO:0001583	missense	9215				glycosphingolipid biosynthetic process|muscle cell homeostasis|N-acetylglucosamine metabolic process|protein glycosylation	integral to Golgi membrane	acetylglucosaminyltransferase activity	g.chr22:33700368C>T	AJ007583	CCDS13912.1	22q12.3	2013-02-22			ENSG00000133424	ENSG00000133424		"Glycosyltransferase family 8 domain containing"	6511	protein-coding gene	gene with protein product		603590				9892679, 10591208, 12966029	Standard	NM_004737		Approved	KIAA0609	uc003ane.4	O95461	OTTHUMG00000150914	ENST00000354992.2:c.1577G>A	22.37:g.33700368C>T	ENSP00000347088:p.Arg526His					LARGE_ENST00000402320.1_Missense_Mutation_p.R474H|LARGE_ENST00000337431.2_Missense_Mutation_p.R474H|LARGE_ENST00000452586.2_Missense_Mutation_p.R325H|LARGE_ENST00000397394.2_Missense_Mutation_p.R526H|LARGE_ENST00000437602.2_Missense_Mutation_p.R526H	p.R526H	NM_004737.4	NP_004728.1	O95461	LARGE_HUMAN			13	2148	-		Lung NSC(1;0.219)	526					B0QXZ7|O60348|Q17R80|Q9UGD1|Q9UGE7|Q9UGG3|Q9UGZ8|Q9UH22	Missense_Mutation	SNP	ENST00000354992.2	37	c.1577G>A	CCDS13912.1	.	.	.	.	.	.	.	.	.	.	C	25.5	4.643584	0.87859	.	.	ENSG00000133424	ENST00000443693;ENST00000429788;ENST00000354992;ENST00000337431;ENST00000397394;ENST00000402320;ENST00000452586;ENST00000437602	T;T;T;T;T;T	0.58940	0.73;0.78;0.73;0.78;0.3;1.73	5.46	4.44	0.53790	.	0.000000	0.85682	D	0.000000	T	0.78470	0.4288	M	0.87547	2.89	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;0.999;1.0	D;D;D;D	0.97110	1.0;0.969;0.975;1.0	T	0.82673	-0.0341	10	0.72032	D	0.01	-5.196	14.1826	0.65583	0.0:0.9284:0.0:0.0716	.	526;325;474;526	B7Z2I9;E9PH73;O95461-2;O95461	.;.;.;LARGE_HUMAN	H	203;203;526;474;526;474;325;526	ENSP00000347088:R526H;ENSP00000336636:R474H;ENSP00000380549:R526H;ENSP00000385223:R474H;ENSP00000407917:R325H;ENSP00000388544:R526H	ENSP00000336636:R474H	R	-	2	0	LARGE	32030368	1.000000	0.71417	1.000000	0.80357	0.925000	0.55904	7.257000	0.78362	1.318000	0.45170	-0.136000	0.14681	CGC		0.617	LARGE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320515.2	NM_133642		4	53	0	0	0	1	0	4	53					T	33700368	C	T	33700368	3	4	255	1	0	0	0	0	1	0	0	0	8627	768	27	1	709	1	LARGE	22	33700368	Missense_Mutation	SNP	C	TCGA-HC-A8D1-01A-11D-A364-08	2749409	33700368	17604198	31	11957											
PASD1	139135	broad.mit.edu	37	chrX	150840968	150840968	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtggggaatgagagggtgcAgatatgcctgcaaaacccac	12	6	14	9	1	0	2	0	1	0	2	0	4	0	3	2	3	4	2	2	3	4	1			TCGA-HC-A8D1-01A-11D-A364-08	TCGA-HC-A8D1-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8e7248-e06a-4817-8199-d0a3a52e0a5f	d0e157eb-2d83-4028-9d45-cea626e62e21	g.chrX:150840968A>G	ENST00000370357.4	+	14	1996	c.1751A>G	c.(1750-1752)cAg>cGg	p.Q584R		NM_173493.2	NP_775764.2	Q8IV76	PASD1_HUMAN	PAS domain containing 1	584						nucleus (GO:0005634)	signal transducer activity (GO:0004871)			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48	Acute lymphoblastic leukemia(192;6.56e-05)					GAGAGGGTGCAGATATGCCTG	0.532																																						ENST00000370357.4																			0				breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48						c.(1750-1752)cAg>cGg		PAS domain containing 1							182	129	147					X																	150840968		2203	4300	6503	SO:0001583	missense	139135					nucleus	signal transducer activity	g.chrX:150840968A>G	AY270020	CCDS35431.1	Xq28	2009-08-06			ENSG00000166049	ENSG00000166049			20686	protein-coding gene	gene with protein product	"cancer/testis antigen 63"					15122589, 15162151	Standard	NM_173493		Approved	CT63	uc004fev.4	Q8IV76	OTTHUMG00000024169	ENST00000370357.4:c.1751A>G	X.37:g.150840968A>G	ENSP00000359382:p.Gln584Arg						p.Q584R	NM_173493.2	NP_775764.2	Q8IV76	PASD1_HUMAN			14	1996	+	Acute lymphoblastic leukemia(192;6.56e-05)		584					Q3MNE0|Q69HD7|Q8N7X9	Missense_Mutation	SNP	ENST00000370357.4	37	c.1751A>G	CCDS35431.1	.	.	.	.	.	.	.	.	.	.	A	9.847	1.192541	0.21954	.	.	ENSG00000166049	ENST00000370357	T	0.36699	1.24	2.63	1.45	0.22620	.	.	.	.	.	T	0.37433	0.1003	N	0.24115	0.695	0.09310	N	1	D	0.76494	0.999	D	0.69479	0.964	T	0.12578	-1.0542	9	0.48119	T	0.1	.	3.9284	0.09273	0.8176:0.0:0.1824:0.0	.	584	Q8IV76	PASD1_HUMAN	R	584	ENSP00000359382:Q584R	ENSP00000359382:Q584R	Q	+	2	0	PASD1	150591624	0.000000	0.05858	0.001000	0.08648	0.017000	0.09413	-0.189000	0.09629	0.319000	0.23209	0.422000	0.28245	CAG		0.532	PASD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060879.2	NM_173493		12	17	0	0	0	1	0	12	17					G	150840968	A	G	150840968	3	3	255	1	0	0	0	0	1	0	0	0	11471	188	7	4	1801	4	PASD1	23	150840968	Missense_Mutation	SNP	A	TCGA-HC-A8D1-01A-11D-A364-08		150840968	4429592	32	11958											
PDE4B	5142	broad.mit.edu	37	chr1	66384363	66384363	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	gggatcgacctctggagaggGagaaggtgttgctcaggaaa	11	7	17	6	1	2	2	1	0	1	2	3	7	2	4	1	5	1	2	1	5	2	1			TCGA-HC-A9TE-01A-11D-A41K-08	TCGA-HC-A9TE-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8483a81-abcb-43d1-abea-e4c00743c928	8ee5606a-20d7-43a6-a199-d18c295e4b1d	g.chr1:66384363G>C	ENST00000329654.4	+	3	313	c.126G>C	c.(124-126)ggG>ggC	p.G42G	PDE4B_ENST00000371049.3_Silent_p.G42G	NM_001037341.1	NP_001032418.1	Q07343	PDE4B_HUMAN	phosphodiesterase 4B, cAMP-specific	42					cAMP catabolic process (GO:0006198)|cellular response to drug (GO:0035690)|cellular response to epinephrine stimulus (GO:0071872)|cellular response to lipopolysaccharide (GO:0071222)|leukocyte migration (GO:0050900)|negative regulation of relaxation of cardiac muscle (GO:1901898)|neutrophil chemotaxis (GO:0030593)|neutrophil homeostasis (GO:0001780)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-2 production (GO:0032743)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of high voltage-gated calcium channel activity (GO:1901841)|T cell receptor signaling pathway (GO:0050852)	cell periphery (GO:0071944)|cytosol (GO:0005829)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|Z disc (GO:0030018)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|cAMP binding (GO:0030552)|ion channel binding (GO:0044325)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	37					Adenosine monophosphate(DB00131)|Amrinone(DB01427)|Caffeine(DB00201)|Dyphylline(DB00651)|Enprofylline(DB00824)|Ibudilast(DB05266)|Iloprost(DB01088)|Ketotifen(DB00920)|Papaverine(DB01113)|Pentoxifylline(DB00806)|Roflumilast(DB01656)|Theobromine(DB01412)|Theophylline(DB00277)	TCTGGAGAGGGAGAAGGTGTT	0.468																																						ENST00000329654.4																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	37						c.(124-126)ggG>ggC		phosphodiesterase 4B, cAMP-specific	Adenosine monophosphate(DB00131)|Amrinone(DB01427)|Caffeine(DB00201)|Cilostazol(DB01166)|Dyphylline(DB00651)|Enprofylline(DB00824)|Papaverine(DB01113)|Pentoxifylline(DB00806)|Theophylline(DB00277)						90	86	87					1																	66384363		2203	4300	6503	SO:0001819	synonymous_variant	5142				signal transduction	cytosol|insoluble fraction|soluble fraction	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding	g.chr1:66384363G>C	L20971	CCDS632.1, CCDS30742.1, CCDS30743.1, CCDS72802.1	1p31	2010-06-24	2010-06-24		ENSG00000184588	ENSG00000184588		"Phosphodiesterases"	8781	protein-coding gene	gene with protein product	"phosphodiesterase E4 dunce homolog (Drosophila)"	600127	"phosphodiesterase 4B, cAMP-specific (dunce (Drosophila)-homolog phosphodiesterase E4)", "phosphodiesterase 4B, cAMP-specific (phosphodiesterase E4 dunce homolog, Drosophila)"	DPDE4			Standard	XM_005270925		Approved		uc001dco.3	Q07343	OTTHUMG00000009088	ENST00000329654.4:c.126G>C	1.37:g.66384363G>C						PDE4B_ENST00000371049.3_Silent_p.G42G	p.G42G	NM_001037341.1	NP_001032418.1	Q07343	PDE4B_HUMAN			3	313	+			42					A5YW33|O15443|Q13945|Q5TEK4|Q5TEK5|Q5TEK6	Silent	SNP	ENST00000329654.4	37	c.126G>C	CCDS632.1																																																																																				0.468	PDE4B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000025188.3	NM_002600		3	43	0	0	0	1	0	3	43					C	66384363	G	C	66384363	2	2	256	1	0	0	0	0	0	0	0	1	11640	1161	41	5		5	PDE4B	1	66384363	Silent	SNP	G	TCGA-HC-A9TE-01A-11D-A41K-08		66384363	182866258	1	11959											
HMCN1	83872	broad.mit.edu	37	chr1	185902932	185902932	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtgaaggtggatcatcagccGcttcagttttcctcacagtg	8	12	11	10	1	4	1	4	1	0	0	5	2	5	2	2	2	1	2	2	2	1	3			TCGA-HC-A9TE-01A-11D-A41K-08	TCGA-HC-A9TE-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8483a81-abcb-43d1-abea-e4c00743c928	8ee5606a-20d7-43a6-a199-d18c295e4b1d	g.chr1:185902932G>A	ENST00000271588.4	+	11	2033	c.1804G>A	c.(1804-1806)Gct>Act	p.A602T	HMCN1_ENST00000367492.2_Missense_Mutation_p.A602T	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	602	Ig-like C2-type 2.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						ATCATCAGCCGCTTCAGTTTT	0.403																																						ENST00000271588.4																			0				NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						c.(1804-1806)Gct>Act		hemicentin 1							144	142	143					1																	185902932		2203	4300	6503	SO:0001583	missense	83872				response to stimulus|visual perception	basement membrane	calcium ion binding	g.chr1:185902932G>A	AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"Fibulins", "Immunoglobulin superfamily / I-set domain containing"	19194	protein-coding gene	gene with protein product	"fibulin 6"	608548	"age-related macular degeneration 1 (senile macular degeneration)"	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.1804G>A	1.37:g.185902932G>A	ENSP00000271588:p.Ala602Thr					HMCN1_ENST00000367492.2_Missense_Mutation_p.A602T	p.A602T	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN			11	2033	+			602			Ig-like C2-type 2.		A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Missense_Mutation	SNP	ENST00000271588.4	37	c.1804G>A	CCDS30956.1	.	.	.	.	.	.	.	.	.	.	G	17.95	3.514036	0.64522	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	T;T	0.68624	-0.34;-0.34	5.67	4.74	0.60224	Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.236290	0.42053	D	0.000765	T	0.62877	0.2464	L	0.60455	1.87	0.44337	D	0.997226	P	0.42248	0.774	B	0.40199	0.322	T	0.62334	-0.6876	10	0.29301	T	0.29	.	14.6879	0.69062	0.0713:0.0:0.9287:0.0	.	602	Q96RW7	HMCN1_HUMAN	T	602	ENSP00000271588:A602T;ENSP00000356462:A602T	ENSP00000271588:A602T	A	+	1	0	HMCN1	184169555	0.987000	0.35691	0.176000	0.23000	0.310000	0.27922	4.855000	0.62925	2.677000	0.91161	0.655000	0.94253	GCT		0.403	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935		17	78	0	0	0	1	0	17	78					A	185902932	G	A	185902932	3	1	256	1	0	0	0	0	1	0	0	0	7220	1087	38	1	1846	1	HMCN1	1	185902932	Missense_Mutation	SNP	G	TCGA-HC-A9TE-01A-11D-A41K-08	119518569	185902932	63347689	2	11960											
FBXO28	23219	broad.mit.edu	37	chr1	224318220	224318220	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ccagagaatgttgaatcaggGatttctgaaagtggagaggt	13	10	14	4	0	2	4	1	2	1	2	2	7	2	5	1	3	0	1	1	3	3	2			TCGA-HC-A9TE-01A-11D-A41K-08	TCGA-HC-A9TE-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8483a81-abcb-43d1-abea-e4c00743c928	8ee5606a-20d7-43a6-a199-d18c295e4b1d	g.chr1:224318220G>A	ENST00000366862.5	+	2	357	c.314G>A	c.(313-315)gGa>gAa	p.G105E	FBXO28_ENST00000424254.2_Missense_Mutation_p.G105E	NM_015176.3	NP_055991.1	Q9NVF7	FBX28_HUMAN	F-box protein 28	105	F-box. {ECO:0000255|PROSITE- ProRule:PRU00080}.									endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(3)|ovary(2)|skin(1)	10	Breast(184;0.206)			GBM - Glioblastoma multiforme(131;0.0363)		TTGAATCAGGGATTTCTGAAA	0.373																																						ENST00000366862.5																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(3)|ovary(2)|skin(1)	10						c.(313-315)gGa>gAa		F-box protein 28							158	148	151					1																	224318220		2203	4300	6503	SO:0001583	missense	23219							g.chr1:224318220G>A	AK001628	CCDS1539.1, CCDS44320.1	1q42.12	2011-08-12			ENSG00000143756	ENSG00000143756		"F-boxes /  "other""	29046	protein-coding gene	gene with protein product	"centromere protein 30"	609100				9455484	Standard	NM_015176		Approved	FLJ10766, KIAA0483, Fbx28, CENP-30	uc001hoh.3	Q9NVF7	OTTHUMG00000037495	ENST00000366862.5:c.314G>A	1.37:g.224318220G>A	ENSP00000355827:p.Gly105Glu					FBXO28_ENST00000424254.2_Missense_Mutation_p.G105E	p.G105E	NM_015176.3	NP_055991.1	Q9NVF7	FBX28_HUMAN		GBM - Glioblastoma multiforme(131;0.0363)	2	357	+	Breast(184;0.206)		105			F-box.		E9PEM8|O75070	Missense_Mutation	SNP	ENST00000366862.5	37	c.314G>A	CCDS1539.1	.	.	.	.	.	.	.	.	.	.	G	27.9	4.877019	0.91664	.	.	ENSG00000143756	ENST00000366862;ENST00000424254	.	.	.	5.54	5.54	0.83059	F-box domain, cyclin-like (1);	0.000000	0.85682	D	0.000000	T	0.79470	0.4451	M	0.74647	2.275	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.994	T	0.81088	-0.1091	9	0.87932	D	0	-19.6412	16.9971	0.86370	0.0:0.0:1.0:0.0	.	105;105	E9PEM8;Q9NVF7	.;FBX28_HUMAN	E	105	.	ENSP00000355827:G105E	G	+	2	0	FBXO28	222384843	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.170000	0.94795	2.764000	0.94973	0.655000	0.94253	GGA		0.373	FBXO28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091283.2	NM_015176		4	46	0	0	0	1	0	4	46					A	224318220	G	A	224318220	3	1	256	1	0	0	0	0	1	0	0	0	5738	1174	41	3	320	3	FBXO28	1	224318220	Missense_Mutation	SNP	G	TCGA-HC-A9TE-01A-11D-A41K-08	38415288	224318220	24932401	3	11961											
CAD	790	broad.mit.edu	37	chr2	27455407	27455407	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgcagctgagtggccagccCagacaaattacctataccta	12	9	8	12	0	0	2	0	1	0	1	0	2	0	2	4	1	5	2	4	1	5	5			TCGA-HC-A9TE-01A-11D-A41K-08	TCGA-HC-A9TE-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8483a81-abcb-43d1-abea-e4c00743c928	8ee5606a-20d7-43a6-a199-d18c295e4b1d	g.chr2:27455407C>T	ENST00000403525.1	+	17	2692	c.2548C>T	c.(2548-2550)Cag>Tag	p.Q850*	CAD_ENST00000464159.1_3'UTR|CAD_ENST00000264705.4_Nonsense_Mutation_p.Q913*			O76075	DFFB_HUMAN	carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase	0					apoptotic chromosome condensation (GO:0030263)|apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|brain development (GO:0007420)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)	cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	deoxyribonuclease activity (GO:0004536)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)			NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GTGGCCAGCCCAGACAAATTA	0.522																																						ENST00000264705.4																			0				NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92						c.(2737-2739)Cag>Tag		carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase	L-Aspartic Acid(DB00128)|L-Glutamine(DB00130)						139	97	112					2																	27455407		2203	4300	6503	SO:0001587	stop_gained	790				'de novo' pyrimidine base biosynthetic process|drug metabolic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process	cytosol|neuronal cell body|nuclear matrix|terminal button	aspartate binding|aspartate carbamoyltransferase activity|ATP binding|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|identical protein binding|metal ion binding|protein kinase activity	g.chr2:27455407C>T	D78586	CCDS1742.1	2p22-p21	2012-10-02			ENSG00000084774	ENSG00000084774	2.1.3.2, 3.5.2.-		1424	protein-coding gene	gene with protein product		114010				8619816, 2565865	Standard	NM_004341		Approved		uc002rji.3	P27708	OTTHUMG00000097070	ENST00000403525.1:c.2548C>T	2.37:g.27455407C>T	ENSP00000384510:p.Gln850*					CAD_ENST00000403525.1_Nonsense_Mutation_p.Q850*|CAD_ENST00000464159.1_3'UTR	p.Q913*	NM_004341.3	NP_004332.2	P27708	PYR1_HUMAN			18	2899	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		913			CPSase (Carbamoyl-phosphate synthase).|CPSase A.		O60521|Q5SR22|Q9BYI4|Q9BYI5|Q9BYI6	Nonsense_Mutation	SNP	ENST00000403525.1	37	c.2737C>T		.	.	.	.	.	.	.	.	.	.	C	39	7.399308	0.98258	.	.	ENSG00000084774	ENST00000264705;ENST00000403525	.	.	.	5.37	5.37	0.77165	.	0.220636	0.48767	D	0.000180	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.28530	T	0.3	-5.8088	17.8357	0.88696	0.0:1.0:0.0:0.0	.	.	.	.	X	913;850	.	ENSP00000264705:Q913X	Q	+	1	0	CAD	27308911	0.978000	0.34361	1.000000	0.80357	0.627000	0.37826	2.435000	0.44811	2.797000	0.96272	0.650000	0.86243	CAG		0.522	CAD-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000324970.1			31	38	0	0	0	1	0	31	38					T	27455407	C	T	27455407	4	4	256	1	0	0	0	0	0	1	0	0	2565	595	21	3	2807	3	CAD	2	27455407	Nonsense_Mutation	SNP	C	TCGA-HC-A9TE-01A-11D-A41K-08		27455407	215743966	4	11962											
SEMA4C	54910	broad.mit.edu	37	chr2	97527357	97527357	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	tgcagatgcctgaagtgtccGaggtcatcacatgctggatc	9	10	12	10	1	2	2	2	1	0	1	4	4	3	3	2	2	3	2	2	2	1	0			TCGA-HC-A9TE-01A-11D-A41K-08	TCGA-HC-A9TE-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8483a81-abcb-43d1-abea-e4c00743c928	8ee5606a-20d7-43a6-a199-d18c295e4b1d	g.chr2:97527357G>C	ENST00000305476.5	-	14	1763	c.1631C>G	c.(1630-1632)tCg>tGg	p.S544W		NM_017789.4	NP_060259.4	Q9C0C4	SEM4C_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4C	544	PSI.				cell migration in hindbrain (GO:0021535)|cerebellum development (GO:0021549)|muscle cell differentiation (GO:0042692)|neural tube closure (GO:0001843)|positive regulation of stress-activated MAPK cascade (GO:0032874)|semaphorin-plexin signaling pathway (GO:0071526)	cell junction (GO:0030054)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|synaptic vesicle membrane (GO:0030672)	receptor activity (GO:0004872)			NS(1)|kidney(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	17						TGAAGTGTCCGAGGTCATCAC	0.562																																						ENST00000305476.5																			0				NS(1)|kidney(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	17						c.(1630-1632)tCg>tGg		sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4C							174	170	171					2																	97527357		2203	4300	6503	SO:0001583	missense	54910				muscle cell differentiation|nervous system development|positive regulation of stress-activated MAPK cascade	cell junction|integral to membrane|postsynaptic density|postsynaptic membrane|synaptic vesicle membrane	receptor activity	g.chr2:97527357G>C	AB051526	CCDS2029.1	2q11.2	2013-01-11			ENSG00000168758	ENSG00000168758		"Semaphorins", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	10731	protein-coding gene	gene with protein product	"M-Sema F"	604462		SEMAI		7656991	Standard	NM_017789		Approved	Semacl1, Semaf	uc002sxh.4	Q9C0C4	OTTHUMG00000130535	ENST00000305476.5:c.1631C>G	2.37:g.97527357G>C	ENSP00000306844:p.Ser544Trp						p.S544W	NM_017789.4	NP_060259.4	Q9C0C4	SEM4C_HUMAN			14	1763	-			544			PSI.		Q32MJ3|Q7Z5X0	Missense_Mutation	SNP	ENST00000305476.5	37	c.1631C>G	CCDS2029.1	.	.	.	.	.	.	.	.	.	.	G	10.05	1.244945	0.22796	.	.	ENSG00000168758	ENST00000305476	T	0.24350	1.86	4.91	2.95	0.34219	.	1.502310	0.04082	N	0.309830	T	0.44074	0.1276	L	0.58101	1.795	0.23421	N	0.997716	D;D;D	0.71674	0.965;0.975;0.998	P;P;P	0.61800	0.611;0.759;0.894	T	0.05835	-1.0861	10	0.87932	D	0	.	5.5745	0.17215	0.2989:0.0:0.7011:0.0	.	544;254;44	Q9C0C4;Q6P5A5;Q71RG3	SEM4C_HUMAN;.;.	W	544	ENSP00000306844:S544W	ENSP00000306844:S544W	S	-	2	0	SEMA4C	96891084	0.013000	0.17824	0.024000	0.17045	0.076000	0.17211	1.202000	0.32271	0.526000	0.28541	-0.137000	0.14449	TCG		0.562	SEMA4C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252957.1	NM_017789		30	72	0	0	0	1	0	30	72					C	97527357	G	C	97527357	3	2	256	1	0	0	0	0	1	0	0	0	14033	1059	37	5	878	5	SEMA4C	2	97527357	Missense_Mutation	SNP	G	TCGA-HC-A9TE-01A-11D-A41K-08	70071950	97527357	145672016	5	11963											
TTN	7273	broad.mit.edu	37	chr2	179414986	179414986	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaagtattcagggccaaactCtactattggtggaactataa	15	11	8	7	0	2	0	1	0	1	0	2	1	2	1	1	3	3	1	1	3	8	7			TCGA-HC-A9TE-01A-11D-A41K-08	TCGA-HC-A9TE-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8483a81-abcb-43d1-abea-e4c00743c928	8ee5606a-20d7-43a6-a199-d18c295e4b1d	g.chr2:179414986C>T	ENST00000591111.1	-	287	86880	c.86656G>A	c.(86656-86658)Gag>Aag	p.E28886K	TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E21654K|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000438095.1_RNA|RP11-65L3.2_ENST00000603415.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E21462K|TTN_ENST00000359218.5_Missense_Mutation_p.E21587K|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E27959K|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.E30527K|TTN-AS1_ENST00000585451.1_RNA			Q8WZ42	TITIN_HUMAN	titin	28886	Ig-like 133.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GGGCCAAACTCTACTATTGGT	0.348																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(91579-91581)Gag>Aag		titin							59	57	58					2																	179414986		1813	4083	5896	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179414986C>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.86656G>A	2.37:g.179414986C>T	ENSP00000465570:p.Glu28886Lys					TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000438095.1_RNA|RP11-65L3.2_ENST00000603415.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E27959K|TTN_ENST00000342175.6_Missense_Mutation_p.E21654K|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.E28886K|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E21587K|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E21462K	p.E30527K	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		337	91803	-			28886			Fibronectin type-III 122.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.91579G>A		.	.	.	.	.	.	.	.	.	.	C	16.90	3.250222	0.59212	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.62364	0.03;0.25;0.23;0.21	5.74	5.74	0.90152	Immunoglobulin-like (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.71995	0.3406	L	0.31294	0.92	0.80722	D	1	D;D;D;D	0.69078	0.997;0.997;0.997;0.997	D;D;D;D	0.75020	0.985;0.985;0.985;0.985	T	0.73799	-0.3869	9	0.87932	D	0	.	20.2982	0.98569	0.0:1.0:0.0:0.0	.	21462;21587;21654;28886	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	K	27959;21462;21654;21587;21459	ENSP00000343764:E27959K;ENSP00000434586:E21462K;ENSP00000340554:E21654K;ENSP00000352154:E21587K	ENSP00000340554:E21654K	E	-	1	0	TTN	179123232	1.000000	0.71417	1.000000	0.80357	0.678000	0.39670	7.572000	0.82409	2.873000	0.98535	0.563000	0.77884	GAG		0.348	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		5	56	0	0	0	1	0	5	56					T	179414986	C	T	179414986	3	4	256	1	0	0	0	0	1	0	0	0	16732	922	32	3	16504	3	TTN	2	179414986	Missense_Mutation	SNP	C	TCGA-HC-A9TE-01A-11D-A41K-08	81887629	179414986	63784387	6	11964											
EFHB	151651	broad.mit.edu	37	chr3	19962047	19962047	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aactctgtaaccaactggaaTaacttttcctgcctttgggg	10	13	8	10	0	1	0	0	0	1	0	2	1	2	1	3	3	5	1	3	3	5	5	rs377528277		TCGA-HC-A9TE-01A-11D-A41K-08	TCGA-HC-A9TE-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8483a81-abcb-43d1-abea-e4c00743c928	8ee5606a-20d7-43a6-a199-d18c295e4b1d	g.chr3:19962047T>A	ENST00000295824.9	-	2	963	c.802A>T	c.(802-804)Att>Ttt	p.I268F	EFHB_ENST00000498089.1_5'UTR|EFHB_ENST00000344838.4_Missense_Mutation_p.I138F	NM_144715.3	NP_653316.3	Q8N7U6	EFHB_HUMAN	EF-hand domain family, member B	268							calcium ion binding (GO:0005509)			breast(2)|endometrium(4)|kidney(1)|lung(17)|prostate(1)|urinary_tract(1)	26						CCAACTGGAATAACTTTTCCT	0.383																																						ENST00000295824.9																			0				breast(2)|endometrium(4)|kidney(1)|lung(17)|prostate(1)|urinary_tract(1)	26						c.(802-804)Att>Ttt		EF-hand domain family, member B							79	81	80					3																	19962047		2203	4300	6503	SO:0001583	missense	151651				signal transduction	proteinaceous extracellular matrix	calcium ion binding	g.chr3:19962047T>A	AK122616	CCDS33715.2	3p24.3	2014-07-18			ENSG00000163576	ENSG00000163576		"EF-hand domain containing"	26330	protein-coding gene	gene with protein product	"cilia and flagella associated protein 21"					12477932	Standard	NM_144715		Approved	FLJ25200, CFAP21	uc003cbl.4	Q8N7U6	OTTHUMG00000150505	ENST00000295824.9:c.802A>T	3.37:g.19962047T>A	ENSP00000295824:p.Ile268Phe					EFHB_ENST00000344838.4_Missense_Mutation_p.I138F|EFHB_ENST00000498089.1_5'UTR	p.I268F	NM_144715.3	NP_653316.3	Q8N7U6	EFHB_HUMAN			2	963	-			268					A6ND25|A8MPR3|Q6ZWK9|Q8IV58|Q96LQ6	Missense_Mutation	SNP	ENST00000295824.9	37	c.802A>T	CCDS33715.2	.	.	.	.	.	.	.	.	.	.	T	10.07	1.249315	0.22880	.	.	ENSG00000163576	ENST00000295824;ENST00000344838;ENST00000389256	T;T;T	0.25085	1.82;1.85;2.13	5.75	-5.42	0.02640	.	1.212180	0.05777	N	0.608002	T	0.09992	0.0245	N	0.11106	0.095	0.09310	N	1	B;B	0.11235	0.004;0.001	B;B	0.08055	0.003;0.001	T	0.27191	-1.0081	9	.	.	.	0.5269	3.2422	0.06784	0.5149:0.0698:0.2305:0.1848	.	138;268	Q8N7U6-3;Q8N7U6	.;EFHB_HUMAN	F	268;138;268	ENSP00000295824:I268F;ENSP00000342263:I138F;ENSP00000373908:I268F	.	I	-	1	0	EFHB	19937051	0.001000	0.12720	0.004000	0.12327	0.939000	0.58152	-0.199000	0.09491	-0.798000	0.04444	0.533000	0.62120	ATT		0.383	EFHB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318673.2	NM_144715		5	57	0	0	0	1	0	5	57					A	19962047	T	A	19962047	3	1	256	1	0	0	0	0	1	0	0	0	4945	1406	49	5	1747	5	EFHB	3	19962047	Missense_Mutation	SNP	T	TCGA-HC-A9TE-01A-11D-A41K-08		19962047	178060383	7	11965											
ANO10	55129	broad.mit.edu	37	chr3	43591240	43591240	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctactacaatcaaaatgaggTctgcttttgattctggaaag	13	13	8	7	0	3	2	1	2	2	0	3	3	3	3	0	2	3	1	0	2	6	5			TCGA-HC-A9TE-01A-11D-A41K-08	TCGA-HC-A9TE-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8483a81-abcb-43d1-abea-e4c00743c928	8ee5606a-20d7-43a6-a199-d18c295e4b1d	g.chr3:43591240T>C	ENST00000292246.3	-	11	1939	c.1769A>G	c.(1768-1770)gAc>gGc	p.D590G	ANO10_ENST00000396091.3_Missense_Mutation_p.D524G|ANO10_ENST00000350459.4_Missense_Mutation_p.D400G|ANO10_ENST00000451430.2_Missense_Mutation_p.D479G|ANO10_ENST00000414522.2_Missense_Mutation_p.D590G	NM_018075.3	NP_060545.3	Q9NW15	ANO10_HUMAN	anoctamin 10	590					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|cell death (GO:0008219)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|intracellular calcium activated chloride channel activity (GO:0005229)			NS(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(9)|ovary(3)|prostate(3)|skin(3)	29						CAAAATGAGGTCTGCTTTTGA	0.383																																						ENST00000292246.3																			0				NS(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(9)|ovary(3)|prostate(3)|skin(3)	29						c.(1768-1770)gAc>gGc		anoctamin 10							141	134	136					3																	43591240		2202	4300	6502	SO:0001583	missense	55129				cell death	chloride channel complex	chloride channel activity	g.chr3:43591240T>C	AL832508	CCDS2710.2, CCDS56247.1, CCDS56248.1, CCDS56249.1, CCDS56250.1	3p22.1-p21.33	2014-04-09	2008-08-28	2008-08-28	ENSG00000160746	ENSG00000160746		"Ion channels / Chloride channels : Calcium activated : Anoctamins"	25519	protein-coding gene	gene with protein product		613726	"transmembrane protein 16K"	TMEM16K		12477932, 24692353	Standard	NM_001204831		Approved	FLJ10375, MGC47890, SCAR10	uc003cmv.3	Q9NW15	OTTHUMG00000133044	ENST00000292246.3:c.1769A>G	3.37:g.43591240T>C	ENSP00000292246:p.Asp590Gly					ANO10_ENST00000414522.2_Missense_Mutation_p.D590G|ANO10_ENST00000451430.2_Missense_Mutation_p.D479G|ANO10_ENST00000396091.3_Missense_Mutation_p.D524G|ANO10_ENST00000350459.4_Missense_Mutation_p.D400G	p.D590G	NM_018075.3	NP_060545.3	Q9NW15	ANO10_HUMAN			11	1939	-			590					A8K8K3|A8MV74|B3KTZ1|B3KY93|B4DJ83|B4DNK2|B7WP12|C9JHS1|Q8IXX9	Missense_Mutation	SNP	ENST00000292246.3	37	c.1769A>G	CCDS2710.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	10.69|10.69	1.421884|1.421884	0.25639|0.25639	.|.	.|.	ENSG00000160746|ENSG00000160746	ENST00000292246;ENST00000350459;ENST00000396091;ENST00000414522;ENST00000451430|ENST00000448045	T;T;T;T;T|.	0.62941|.	-0.01;-0.01;-0.01;-0.01;-0.01|.	5.33|5.33	5.33|5.33	0.75918|0.75918	.|.	0.218523|.	0.47852|.	D|.	0.000220|.	T|T	0.52451|0.52451	0.1735|0.1735	N|N	0.24115|0.24115	0.695|0.695	0.41888|0.41888	D|D	0.990359|0.990359	B;B;B;B;B|.	0.28933|.	0.228;0.16;0.022;0.082;0.101|.	B;B;B;B;B|.	0.39706|.	0.236;0.307;0.032;0.173;0.266|.	T|T	0.50617|0.50617	-0.8807|-0.8807	10|5	0.23891|.	T|.	0.37|.	.|.	15.3175|15.3175	0.74092|0.74092	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	479;590;400;524;590|.	Q9NW15-4;C9JHS1;Q9NW15-2;Q9NW15-3;Q9NW15|.	.;.;.;.;ANO10_HUMAN|.	G|A	590;400;524;590;479|118	ENSP00000292246:D590G;ENSP00000327767:D400G;ENSP00000379398:D524G;ENSP00000396990:D590G;ENSP00000394119:D479G|.	ENSP00000292246:D590G|.	D|T	-|-	2|1	0|0	ANO10|ANO10	43566244|43566244	1.000000|1.000000	0.71417|0.71417	0.977000|0.977000	0.42913|0.42913	0.440000|0.440000	0.31957|0.31957	5.890000|5.890000	0.69774|0.69774	2.026000|2.026000	0.59711|0.59711	0.528000|0.528000	0.53228|0.53228	GAC|ACC		0.383	ANO10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256649.2	NM_018075		8	82	0	0	0	1	0	8	82					C	43591240	T	C	43591240	3	2	256	1	0	0	0	0	1	0	0	0	696	1667	58	4	225	4	ANO10	3	43591240	Missense_Mutation	SNP	T	TCGA-HC-A9TE-01A-11D-A41K-08	23629193	43591240	154431190	8	11966											
PROS1	5627	broad.mit.edu	37	chr3	93605197	93605197	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	taccggtttaatgagttcacTttccactttccgagggaatc	9	14	8	10	2	1	1	1	1	0	0	4	3	3	2	3	2	1	2	3	2	3	6			TCGA-HC-A9TE-01A-11D-A41K-08	TCGA-HC-A9TE-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8483a81-abcb-43d1-abea-e4c00743c928	8ee5606a-20d7-43a6-a199-d18c295e4b1d	g.chr3:93605197T>A	ENST00000394236.3	-	11	1622	c.1306A>T	c.(1306-1308)Agt>Tgt	p.S436C	PROS1_ENST00000407433.1_Missense_Mutation_p.S305C	NM_000313.3	NP_000304.2	P07225	PROS_HUMAN	protein S (alpha)	436	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|fibrinolysis (GO:0042730)|innate immune response (GO:0045087)|leukocyte migration (GO:0050900)|negative regulation of endopeptidase activity (GO:0010951)|peptidyl-glutamic acid carboxylation (GO:0017187)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|post-translational protein modification (GO:0043687)|proteolysis (GO:0006508)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|Golgi membrane (GO:0000139)|platelet alpha granule lumen (GO:0031093)	calcium ion binding (GO:0005509)|endopeptidase inhibitor activity (GO:0004866)			endometrium(3)|kidney(5)|large_intestine(8)|lung(26)|ovary(1)|skin(2)|urinary_tract(1)	46					Drotrecogin alfa(DB00055)|Menadione(DB00170)|Sodium Tetradecyl Sulfate(DB00464)	ATGAGTTCACTTTCCACTTTC	0.383																																						ENST00000394236.3																			0				endometrium(3)|kidney(5)|large_intestine(8)|lung(26)|ovary(1)|skin(2)|urinary_tract(1)	46	GRCh37	CI051367	PROS1	I		c.(1306-1308)Agt>Tgt		protein S (alpha)	Antihemophilic Factor(DB00025)|Drotrecogin alfa(DB00055)|Menadione(DB00170)						108	114	112					3																	93605197		2203	4300	6503	SO:0001583	missense	5627				leukocyte migration|peptidyl-glutamic acid carboxylation|platelet activation|platelet degranulation|post-translational protein modification|proteolysis	endoplasmic reticulum membrane|extracellular region|Golgi lumen|Golgi membrane|platelet alpha granule lumen	calcium ion binding|endopeptidase inhibitor activity	g.chr3:93605197T>A		CCDS2923.1	3q11.1	2013-06-03			ENSG00000184500	ENSG00000184500			9456	protein-coding gene	gene with protein product		176880		PROS		214811, 1833851	Standard	NM_000313		Approved		uc003drb.4	P07225	OTTHUMG00000150354	ENST00000394236.3:c.1306A>T	3.37:g.93605197T>A	ENSP00000377783:p.Ser436Cys					PROS1_ENST00000407433.1_Missense_Mutation_p.S305C	p.S436C	NM_000313.3	NP_000304.2	P07225	PROS_HUMAN			11	1622	-			436			Laminin G-like 1.		A8KAC9|D3DN28|Q15518|Q7Z715|Q9UCZ8	Missense_Mutation	SNP	ENST00000394236.3	37	c.1306A>T	CCDS2923.1	.	.	.	.	.	.	.	.	.	.	T	9.874	1.199675	0.22121	.	.	ENSG00000184500	ENST00000394236;ENST00000407433	T;T	0.77098	-1.07;-1.07	3.54	2.37	0.29283	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 1 (1);	0.312031	0.32593	N	0.005900	T	0.79209	0.4407	M	0.64404	1.975	0.09310	N	1	D	0.54772	0.968	P	0.54499	0.754	T	0.69694	-0.5076	10	0.66056	D	0.02	.	6.9182	0.24371	0.0:0.2213:0.0:0.7787	.	436	P07225	PROS_HUMAN	C	436;305	ENSP00000377783:S436C;ENSP00000385794:S305C	ENSP00000377783:S436C	S	-	1	0	PROS1	95087887	0.628000	0.27138	0.056000	0.19401	0.014000	0.08584	2.221000	0.42917	0.445000	0.26639	0.533000	0.62120	AGT		0.383	PROS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317762.1	NM_000313		15	110	0	0	0	1	0	15	110					A	93605197	T	A	93605197	3	1	256	1	0	0	0	0	1	0	0	0	12558	1609	56	5	744	5	PROS1	3	93605197	Missense_Mutation	SNP	T	TCGA-HC-A9TE-01A-11D-A41K-08	50013957	93605197	104417233	9	11967											
HCLS1	3059	broad.mit.edu	37	chr3	121350802	121350802	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgtcagtgattacgtcgtccGgatcaaaggaaagctcatca	12	10	10	9	3	4	1	4	1	0	0	6	3	5	3	1	2	2	1	1	2	3	1	rs201252242	byFrequency	TCGA-HC-A9TE-01A-11D-A41K-08	TCGA-HC-A9TE-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8483a81-abcb-43d1-abea-e4c00743c928	8ee5606a-20d7-43a6-a199-d18c295e4b1d	g.chr3:121350802G>A	ENST00000314583.3	-	14	1443	c.1352C>T	c.(1351-1353)cCg>cTg	p.P451L	HCLS1_ENST00000428394.2_Missense_Mutation_p.P414L|HCLS1_ENST00000473883.1_5'UTR	NM_005335.4	NP_005326	P14317	HCLS1_HUMAN	hematopoietic cell-specific Lyn substrate 1	451	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				actin filament polymerization (GO:0030041)|cellular response to cytokine stimulus (GO:0071345)|erythrocyte differentiation (GO:0030218)|intracellular signal transduction (GO:0035556)|negative regulation of leukocyte apoptotic process (GO:2000107)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of cell proliferation (GO:0008284)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of transcription factor import into nucleus (GO:0042993)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tyrosine phosphorylation of STAT protein (GO:0042531)|regulation of actin filament polymerization (GO:0030833)|regulation of transcription, DNA-templated (GO:0006355)|response to hormone (GO:0009725)	cytoplasm (GO:0005737)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	protein kinase binding (GO:0019901)|RNA polymerase II transcription factor binding (GO:0001085)	p.P451L(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35				GBM - Glioblastoma multiforme(114;0.0912)		TACGTCGTCCGGATCAAAGGA	0.488													G|||	2	0.000399361	0	0	5008	,	,		20337	0		0.001	False		,,,				2504	0.001					ENST00000314583.3																			1	Substitution - Missense(1)	p.P451L(1)	large_intestine(1)	breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						c.(1351-1353)cCg>cTg		hematopoietic cell-specific Lyn substrate 1		G	LEU/PRO	0,4406		0,0,2203	159	156	157		1352	5.4	1	3		157	1,8599	1.2+/-3.3	0,1,4299	yes	missense	HCLS1	NM_005335.4	98	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging	451/487	121350802	1,13005	2203	4300	6503	SO:0001583	missense	3059				erythrocyte differentiation|intracellular signal transduction|positive regulation of cell proliferation|positive regulation of tyrosine phosphorylation of STAT protein|response to hormone stimulus	mitochondrion|nucleus|plasma membrane	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr3:121350802G>A		CCDS3003.1	3q13	2007-08-03			ENSG00000180353	ENSG00000180353			4844	protein-coding gene	gene with protein product	"cortactin-like"	601306				8978766, 15710041	Standard	NM_001292041		Approved	HS1, CTTNL	uc003eeh.4	P14317	OTTHUMG00000159409	ENST00000314583.3:c.1352C>T	3.37:g.121350802G>A	ENSP00000320176:p.Pro451Leu					HCLS1_ENST00000428394.2_Missense_Mutation_p.P414L|HCLS1_ENST00000473883.1_5'UTR	p.P451L	NM_005335.4	NP_005326.2	P14317	HCLS1_HUMAN		GBM - Glioblastoma multiforme(114;0.0912)	14	1443	-			451			SH3.		B4DQ69|Q53Y93|Q6IBK9|Q9UDK0	Missense_Mutation	SNP	ENST00000314583.3	37	c.1352C>T	CCDS3003.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	21.4	4.136318	0.77662	0.0	1.16E-4	ENSG00000180353	ENST00000314583;ENST00000428394	T;T	0.30714	1.52;1.52	5.43	5.43	0.79202	Src homology-3 domain (5);	0.000000	0.85682	D	0.000000	T	0.54271	0.1848	M	0.62723	1.935	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.55927	-0.8063	10	0.87932	D	0	-9.199	16.7194	0.85406	0.0:0.0:1.0:0.0	.	414;451	E7EVW7;P14317	.;HCLS1_HUMAN	L	451;414	ENSP00000320176:P451L;ENSP00000387645:P414L	ENSP00000320176:P451L	P	-	2	0	HCLS1	122833492	1.000000	0.71417	0.994000	0.49952	0.830000	0.47004	9.386000	0.97228	2.549000	0.85964	0.563000	0.77884	CCG		0.488	HCLS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355144.1	NM_005335		10	146	0	0	0	1	0	10	146					A	121350802	G	A	121350802	3	1	256	1	0	0	0	0	1	0	0	0	6995	1116	39	2	112	2	HCLS1	3	121350802	Missense_Mutation	SNP	G	TCGA-HC-A9TE-01A-11D-A41K-08	27745605	121350802	76671628	10	11968											
HPS3	84343	broad.mit.edu	37	chr3	148857949	148857949	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aagccttcagagaccagatgTacattattgaaatgccgctt	13	11	8	9	1	1	3	1	1	0	2	1	4	1	3	3	0	3	2	3	0	4	5			TCGA-HC-A9TE-01A-11D-A41K-08	TCGA-HC-A9TE-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8483a81-abcb-43d1-abea-e4c00743c928	8ee5606a-20d7-43a6-a199-d18c295e4b1d	g.chr3:148857949T>C	ENST00000296051.2	+	2	516	c.376T>C	c.(376-378)Tac>Cac	p.Y126H	HPS3_ENST00000460120.1_Intron	NM_032383.3	NP_115759.2	Q969F9	HPS3_HUMAN	Hermansky-Pudlak syndrome 3	126					organelle organization (GO:0006996)|pigmentation (GO:0043473)	BLOC-2 complex (GO:0031084)				breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	34			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)			AGACCAGATGTACATTATTGA	0.448									Hermansky-Pudlak syndrome																													ENST00000296051.2																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	34						c.(376-378)Tac>Cac		Hermansky-Pudlak syndrome 3							143	142	142					3																	148857949		2203	4300	6503	SO:0001583	missense	84343	Hermansky-Pudlak syndrome	Familial Cancer Database	HPS, HPS1-8		cytoplasm		g.chr3:148857949T>C	AY033141	CCDS3140.1	3q24	2014-06-18			ENSG00000163755	ENSG00000163755			15597	protein-coding gene	gene with protein product		606118				11455388	Standard	NM_032383		Approved	SUTAL	uc003ewu.1	Q969F9	OTTHUMG00000159548	ENST00000296051.2:c.376T>C	3.37:g.148857949T>C	ENSP00000296051:p.Tyr126His					HPS3_ENST00000460120.1_Intron	p.Y126H	NM_032383.3	NP_115759.2	Q969F9	HPS3_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)		2	516	+			126					A8K6G6|Q8WTV6|Q96AP1|Q96MR3|Q9H608	Missense_Mutation	SNP	ENST00000296051.2	37	c.376T>C	CCDS3140.1	.	.	.	.	.	.	.	.	.	.	T	15.16	2.751833	0.49362	.	.	ENSG00000163755	ENST00000296051	T	0.62639	0.01	5.67	5.67	0.87782	.	0.262657	0.39274	N	0.001416	T	0.41373	0.1156	N	0.08118	0	0.80722	D	1	B	0.32203	0.36	B	0.33750	0.169	T	0.40040	-0.9584	10	0.21540	T	0.41	-9.5504	12.0977	0.53765	0.0:0.0:0.1433:0.8567	.	126	Q969F9	HPS3_HUMAN	H	126	ENSP00000296051:Y126H	ENSP00000296051:Y126H	Y	+	1	0	HPS3	150340639	1.000000	0.71417	0.993000	0.49108	0.725000	0.41563	5.428000	0.66489	2.285000	0.76669	0.477000	0.44152	TAC		0.448	HPS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356151.1	NM_032383		22	125	0	0	0	1	0	22	125					C	148857949	T	C	148857949	3	2	256	1	0	0	0	0	1	0	0	0	7340	1638	57	4	382	4	HPS3	3	148857949	Missense_Mutation	SNP	T	TCGA-HC-A9TE-01A-11D-A41K-08	27507147	148857949	49164481	11	11969											
MASP1	5648	broad.mit.edu	37	chr3	186954108	186954108	+	Intron	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcatgcaagcccaggtagacGgtgacatgctccttggagac	10	8	12	11	1	1	3	1	1	0	2	2	4	2	3	2	3	3	3	2	3	2	2			TCGA-HC-A9TE-01A-11D-A41K-08	TCGA-HC-A9TE-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8483a81-abcb-43d1-abea-e4c00743c928	8ee5606a-20d7-43a6-a199-d18c295e4b1d	g.chr3:186954108G>A	ENST00000337774.5	-	10	1693				MASP1_ENST00000392472.2_Silent_p.T404T|MASP1_ENST00000495249.1_5'UTR|MASP1_ENST00000296280.6_Silent_p.T517T	NM_001879.5	NP_001870.3	P48740	MASP1_HUMAN	mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor)						complement activation (GO:0006956)|complement activation, lectin pathway (GO:0001867)|innate immune response (GO:0045087)|negative regulation of complement activation (GO:0045916)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	calcium ion binding (GO:0005509)|calcium-dependent protein binding (GO:0048306)|peptidase activity (GO:0008233)|protein homodimerization activity (GO:0042803)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(27)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	60	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;3.49e-18)	GBM - Glioblastoma multiforme(93;0.0366)		CCAGGTAGACGGTGACATGCT	0.582																																						ENST00000296280.6																			0				NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(27)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	60						c.(1549-1551)acC>acT		mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor)							104	90	95					3																	186954108		2203	4300	6503	SO:0001627	intron_variant	5648				complement activation, lectin pathway|negative regulation of complement activation|proteolysis	extracellular space	calcium ion binding|calcium-dependent protein binding|protein binding|protein homodimerization activity|serine-type endopeptidase activity	g.chr3:186954108G>A	D28593	CCDS33907.1, CCDS33908.1, CCDS33909.1	3q27-q28	2014-09-17	2005-08-17		ENSG00000127241	ENSG00000127241		"Serine peptidases / Serine peptidases"	6901	protein-coding gene	gene with protein product		600521	"mannan-binding lectin serine protease 1 (C4/C2 activating component of Ra-reactive factor)"	CRARF, PRSS5		8018603, 8240317	Standard	NR_033519		Approved	MASP	uc003fri.3	P48740	OTTHUMG00000156461	ENST00000337774.5:c.1303+5160C>T	3.37:g.186954108G>A						MASP1_ENST00000495249.1_5'UTR|MASP1_ENST00000337774.5_Intron|MASP1_ENST00000392472.2_Silent_p.T404T	p.T517T	NM_139125.3	NP_624302.1	P48740	MASP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;3.49e-18)	GBM - Glioblastoma multiforme(93;0.0366)	11	1776	-	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		515			Peptidase S1.		A8K542|A8K6M1|B4E2L7|O95570|Q68D21|Q8IUV8|Q96RS4|Q9UF09	Silent	SNP	ENST00000337774.5	37	c.1551C>T	CCDS33907.1																																																																																				0.582	MASP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344262.1	NM_001879		11	41	0	0	0	1	0	11	41					A	186954108	G	A	186954108	1	1	256	0	1	0	0	0	0	0	0	0	9322	1103	39	2		2	MASP1	3	186954108	Intron	SNP	G	TCGA-HC-A9TE-01A-11D-A41K-08	38096159	186954108	11068322	12	11970											
UGT2B10	7365	broad.mit.edu	37	chr4	69696453	69696453	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cttcgagttgcagcccacaaCctcacctggttccagtacca	9	9	7	16	1	1	0	1	0	0	0	3	1	2	0	5	1	4	4	5	1	2	4			TCGA-HC-A9TE-01A-11D-A41K-08	TCGA-HC-A9TE-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8483a81-abcb-43d1-abea-e4c00743c928	8ee5606a-20d7-43a6-a199-d18c295e4b1d	g.chr4:69696453C>T	ENST00000265403.7	+	6	1470	c.1443C>T	c.(1441-1443)aaC>aaT	p.N481N	UGT2B10_ENST00000458688.2_Silent_p.N397N	NM_001075.4	NP_001066.1	P36537	UDB10_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B10	481					lipid metabolic process (GO:0006629)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)			endometrium(3)|kidney(4)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	29						CAGCCCACAACCTCACCTGGT	0.478																																					Melanoma(133;755 1763 25578 26334 46021)	ENST00000265403.7																			0				endometrium(3)|kidney(4)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	29						c.(1441-1443)aaC>aaT		UDP glucuronosyltransferase 2 family, polypeptide B10							194	182	186					4																	69696453		2203	4300	6503	SO:0001819	synonymous_variant	7365				lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	g.chr4:69696453C>T	X63359	CCDS75135.1, CCDS75136.1	4q13.3	2008-02-05	2005-07-20			ENSG00000109181		"UDP glucuronosyltransferases"	12544	protein-coding gene	gene with protein product		600070	"UDP glycosyltransferase 2 family, polypeptide B10"			8333863	Standard	NM_001075		Approved		uc003hee.3	P36537		ENST00000265403.7:c.1443C>T	4.37:g.69696453C>T						UGT2B10_ENST00000458688.2_Silent_p.N397N	p.N481N	NM_001075.4	NP_001066.1	P36537	UDB10_HUMAN			6	1470	+			481					A8K9M3|B4DPP1|Q14CR8	Silent	SNP	ENST00000265403.7	37	c.1443C>T																																																																																					0.478	UGT2B10-001	KNOWN	non_canonical_polymorphism|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000365169.1	NM_001075		40	115	0	0	0	1	0	40	115					T	69696453	C	T	69696453	2	4	256	1	0	0	0	0	0	0	0	1	16953	506	18	3		3	UGT2B10	4	69696453	Silent	SNP	C	TCGA-HC-A9TE-01A-11D-A41K-08		69696453	121457823	13	11971											
UGT2B11	10720	broad.mit.edu	37	chr4	70080378	70080378	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	accagcacttttccacaactCccagagctaaagtaacaact	15	8	4	14	0	0	1	0	0	0	1	2	1	2	1	3	0	5	3	3	0	5	4			TCGA-HC-A9TE-01A-11D-A41K-08	TCGA-HC-A9TE-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8483a81-abcb-43d1-abea-e4c00743c928	8ee5606a-20d7-43a6-a199-d18c295e4b1d	g.chr4:70080378C>T	ENST00000446444.1	-	1	71	c.63G>A	c.(61-63)ggG>ggA	p.G21G	RP11-704M14.1_ENST00000504301.1_RNA|RP11-704M14.1_ENST00000505646.1_RNA	NM_001073.1	NP_001064.1	O75310	UDB11_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B11	21					estrogen metabolic process (GO:0008210)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	42						TTCCACAACTCCCAGAGCTAA	0.448																																						ENST00000446444.1																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	42						c.(61-63)ggG>ggA		UDP glucuronosyltransferase 2 family, polypeptide B11							195	200	198					4																	70080378		2203	4300	6503	SO:0001819	synonymous_variant	10720				estrogen metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	g.chr4:70080378C>T	AF016492	CCDS3527.1	4q13.3	2008-02-05	2005-07-20		ENSG00000213759	ENSG00000213759		"UDP glucuronosyltransferases"	12545	protein-coding gene	gene with protein product		603064	"UDP glycosyltransferase 2 family, polypeptide B11"			9675083	Standard	NM_001073		Approved		uc003heh.3	O75310	OTTHUMG00000129395	ENST00000446444.1:c.63G>A	4.37:g.70080378C>T						RP11-704M14.1_ENST00000505646.1_RNA	p.G21G	NM_001073.1	NP_001064.1	O75310	UDB11_HUMAN			1	71	-			21					Q3KNV9	Silent	SNP	ENST00000446444.1	37	c.63G>A	CCDS3527.1																																																																																				0.448	UGT2B11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251551.2	NM_001073		90	68	0	0	0	1	0	90	68					T	70080378	C	T	70080378	2	4	256	1	0	0	0	0	0	0	0	1	16954	842	30	3		3	UGT2B11	4	70080378	Silent	SNP	C	TCGA-HC-A9TE-01A-11D-A41K-08	383925	70080378	121073898	14	11972											
C6	729	broad.mit.edu	37	chr5	41160418	41160418	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agctttcctgaggttgttccGttttgtcactgcacagggga	6	14	12	9	1	1	1	1	1	0	0	3	2	3	2	2	3	2	5	2	3	0	5			TCGA-HC-A9TE-01A-11D-A41K-08	TCGA-HC-A9TE-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8483a81-abcb-43d1-abea-e4c00743c928	8ee5606a-20d7-43a6-a199-d18c295e4b1d	g.chr5:41160418G>A	ENST00000263413.3	-	11	1774	c.1510C>T	c.(1510-1512)Cgg>Tgg	p.R504W	C6_ENST00000475349.1_5'UTR|C6_ENST00000337836.5_Missense_Mutation_p.R504W	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	504	MACPF. {ECO:0000255|PROSITE- ProRule:PRU00745}.				complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane attack complex (GO:0005579)				central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				AGGTTGTTCCGTTTTGTCACT	0.522																																						ENST00000263413.3																			0				central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96						c.(1510-1512)Cgg>Tgg		complement component 6							207	174	185					5																	41160418		2203	4300	6503	SO:0001583	missense	729				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding	g.chr5:41160418G>A	J05024	CCDS3936.1	5p13.1	2014-09-17			ENSG00000039537	ENSG00000039537		"Complement system"	1339	protein-coding gene	gene with protein product		217050					Standard	NM_001115131		Approved		uc003jmk.3	P13671	OTTHUMG00000094781	ENST00000263413.3:c.1510C>T	5.37:g.41160418G>A	ENSP00000263413:p.Arg504Trp					C6_ENST00000475349.1_5'UTR|C6_ENST00000337836.5_Missense_Mutation_p.R504W	p.R504W	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN			11	1774	-		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)	504			MACPF.			Missense_Mutation	SNP	ENST00000263413.3	37	c.1510C>T	CCDS3936.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.052640	0.75960	.	.	ENSG00000039537	ENST00000337836;ENST00000263413	D;D	0.85702	-2.02;-2.02	5.91	1.84	0.25277	Membrane attack complex component/perforin (MACPF) domain (3);	0.342229	0.31697	N	0.007201	D	0.93135	0.7814	M	0.90369	3.11	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.94038	0.7307	10	0.87932	D	0	-17.7032	15.5991	0.76611	0.0:0.0:0.5284:0.4716	.	504	P13671	CO6_HUMAN	W	504	ENSP00000338861:R504W;ENSP00000263413:R504W	ENSP00000263413:R504W	R	-	1	2	C6	41196175	0.260000	0.24053	0.862000	0.33874	0.949000	0.60115	0.444000	0.21661	0.347000	0.23924	0.655000	0.94253	CGG		0.522	C6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211592.1			13	55	0	0	0	1	0	13	55					A	41160418	G	A	41160418	3	1	256	1	0	0	0	0	1	0	0	0	2315	1144	40	1	1326	1	C6	5	41160418	Missense_Mutation	SNP	G	TCGA-HC-A9TE-01A-11D-A41K-08		41160418	139754842	15	11973											
CRHBP	1393	broad.mit.edu	37	chr5	76251513	76251513	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	attctcaagggggagaagttCcccagttcccaggatcatcc	10	9	10	12	0	2	1	2	0	1	1	6	3	5	2	4	3	0	2	4	3	2	3			TCGA-HC-A9TE-01A-11D-A41K-08	TCGA-HC-A9TE-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8483a81-abcb-43d1-abea-e4c00743c928	8ee5606a-20d7-43a6-a199-d18c295e4b1d	g.chr5:76251513C>T	ENST00000274368.4	+	4	791	c.369C>T	c.(367-369)ttC>ttT	p.F123F	CRHBP_ENST00000506501.1_Silent_p.F123F	NM_001882.3	NP_001873.2	P24387	CRHBP_HUMAN	corticotropin releasing hormone binding protein	123					behavioral response to ethanol (GO:0048149)|cellular response to calcium ion (GO:0071277)|cellular response to cAMP (GO:0071320)|cellular response to cocaine (GO:0071314)|cellular response to drug (GO:0035690)|cellular response to estradiol stimulus (GO:0071392)|cellular response to estrogen stimulus (GO:0071391)|cellular response to gonadotropin-releasing hormone (GO:0097211)|cellular response to potassium ion (GO:0035865)|cellular response to stress (GO:0033554)|cellular response to tumor necrosis factor (GO:0071356)|female pregnancy (GO:0007565)|hormone metabolic process (GO:0042445)|hormone-mediated signaling pathway (GO:0009755)|inflammatory response (GO:0006954)|learning or memory (GO:0007611)|maternal aggressive behavior (GO:0002125)|negative regulation of corticotropin secretion (GO:0051460)|negative regulation of corticotropin-releasing hormone receptor activity (GO:1900011)|regulated secretory pathway (GO:0045055)|regulation of corticotropin secretion (GO:0051459)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|signal transduction (GO:0007165)|synaptic transmission, dopaminergic (GO:0001963)	axon terminus (GO:0043679)|dendrite (GO:0030425)|dense core granule (GO:0031045)|extracellular space (GO:0005615)|intracellular (GO:0005622)|microtubule (GO:0005874)|multivesicular body (GO:0005771)|nucleus (GO:0005634)|perikaryon (GO:0043204)|secondary lysosome (GO:0005767)|secretory granule (GO:0030141)|varicosity (GO:0043196)	corticotropin-releasing hormone binding (GO:0051424)|peptide binding (GO:0042277)			kidney(3)|large_intestine(4)|lung(6)|prostate(1)|skin(2)	16		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)		OV - Ovarian serous cystadenocarcinoma(54;2.17e-51)|Epithelial(54;8.79e-46)|all cancers(79;2.49e-41)		GGGAGAAGTTCCCCAGTTCCC	0.453																																						ENST00000274368.4																			0				kidney(3)|large_intestine(4)|lung(6)|prostate(1)|skin(2)	16						c.(367-369)ttC>ttT		corticotropin releasing hormone binding protein							74	71	72					5																	76251513		2203	4300	6503	SO:0001819	synonymous_variant	1393				female pregnancy|learning or memory|signal transduction	soluble fraction		g.chr5:76251513C>T	X58022	CCDS4034.1	5q	2008-07-18	2001-11-28		ENSG00000145708	ENSG00000145708			2356	protein-coding gene	gene with protein product		122559	"corticotropin releasing hormone-binding protein"			8198617	Standard	NM_001882		Approved	CRF-BP, CRFBP	uc003ker.3	P24387	OTTHUMG00000102133	ENST00000274368.4:c.369C>T	5.37:g.76251513C>T						CRHBP_ENST00000506501.1_Silent_p.F123F	p.F123F	NM_001882.3	NP_001873.2	P24387	CRHBP_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;2.17e-51)|Epithelial(54;8.79e-46)|all cancers(79;2.49e-41)	4	791	+		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)	123					Q53F32|Q6FHT5	Silent	SNP	ENST00000274368.4	37	c.369C>T	CCDS4034.1																																																																																				0.453	CRHBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219972.2	NM_001882		3	30	0	0	0	1	0	3	30					T	76251513	C	T	76251513	2	4	256	1	0	0	0	0	0	0	0	1	3870	854	30	3		3	CRHBP	5	76251513	Silent	SNP	C	TCGA-HC-A9TE-01A-11D-A41K-08	35091095	76251513	104663747	16	11974											
NME5	8382	broad.mit.edu	37	chr5	137451449	137451449	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcagcagccaatcagctagcCaaatctatgggaaaaaaaaa	19	6	7	9	0	3	0	2	0	1	0	3	1	3	1	2	1	4	2	2	1	8	2			TCGA-HC-A9TE-01A-11D-A41K-08	TCGA-HC-A9TE-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8483a81-abcb-43d1-abea-e4c00743c928	8ee5606a-20d7-43a6-a199-d18c295e4b1d	g.chr5:137451449C>T	ENST00000265191.2	-	6	609	c.560G>A	c.(559-561)tGg>tAg	p.W187*	RNU6-460P_ENST00000391158.1_RNA|snoU13_ENST00000459094.1_RNA	NM_003551.2	NP_003542.1	P56597	NDK5_HUMAN	NME/NM23 family member 5	187					cilium assembly (GO:0042384)|CTP biosynthetic process (GO:0006241)|epithelial cilium movement (GO:0003351)|GTP biosynthetic process (GO:0006183)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|nucleoside metabolic process (GO:0009116)|spermatid development (GO:0007286)|spermatogenesis (GO:0007283)|UTP biosynthetic process (GO:0006228)|ventricular system development (GO:0021591)	sperm flagellum (GO:0036126)	ATP binding (GO:0005524)|nucleoside diphosphate kinase activity (GO:0004550)			kidney(1)|large_intestine(1)|lung(2)|skin(1)	5			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			ATCAGCTAGCCAAATCTATGG	0.294																																						ENST00000265191.2																			0				kidney(1)|large_intestine(1)|lung(2)|skin(1)	5						c.(559-561)tGg>tAg		NME/NM23 family member 5							51	60	57					5																	137451449		2203	4290	6493	SO:0001587	stop_gained	8382				anti-apoptosis|CTP biosynthetic process|GTP biosynthetic process|multicellular organismal development|spermatid development|UTP biosynthetic process		ATP binding|nucleoside diphosphate kinase activity|protein binding	g.chr5:137451449C>T	Y14992	CCDS4197.1	5q31.2	2012-05-18	2012-05-18		ENSG00000112981	ENSG00000112981			7853	protein-coding gene	gene with protein product	"radial spoke 23 homolog (Chlamydomonas)"	603575	"non-metastatic cells 5, protein expressed in (nucleoside-diphosphate kinase)"			9742940, 19852809	Standard	NM_003551		Approved	nm23-H5, RSPH23	uc003lce.3	P56597	OTTHUMG00000129207	ENST00000265191.2:c.560G>A	5.37:g.137451449C>T	ENSP00000265191:p.Trp187*						p.W187*	NM_003551.2	NP_003542.1	P56597	NDK5_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)		6	609	-			187					B2R5G7	Nonsense_Mutation	SNP	ENST00000265191.2	37	c.560G>A	CCDS4197.1	.	.	.	.	.	.	.	.	.	.	C	15.99	2.996036	0.54147	.	.	ENSG00000112981	ENST00000265191	.	.	.	5.43	4.55	0.56014	.	0.000000	0.64402	U	0.000004	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.4734	0.75458	0.1398:0.8602:0.0:0.0	.	.	.	.	X	187	.	ENSP00000265191:W187X	W	-	2	0	NME5	137479348	1.000000	0.71417	0.999000	0.59377	0.502000	0.33828	5.846000	0.69444	1.252000	0.44001	0.455000	0.32223	TGG		0.294	NME5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251286.1	NM_003551		4	19	0	0	0	1	0	4	19					T	137451449	C	T	137451449	4	4	256	1	0	0	0	0	0	1	0	0	10494	595	21	3	82	3	NME5	5	137451449	Nonsense_Mutation	SNP	C	TCGA-HC-A9TE-01A-11D-A41K-08	61199936	137451449	43463811	17	11975											
ETF1	2107	broad.mit.edu	37	chr5	137853306	137853306	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cgtattaattggtttgaaagGttcaaagtcaatgttgactt	12	16	9	4	1	2	2	2	2	0	0	2	2	2	2	0	2	0	4	0	2	5	7			TCGA-HC-A9TE-01A-11D-A41K-08	TCGA-HC-A9TE-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8483a81-abcb-43d1-abea-e4c00743c928	8ee5606a-20d7-43a6-a199-d18c295e4b1d	g.chr5:137853306G>T	ENST00000360541.5	-	4	567	c.346C>A	c.(346-348)Cct>Act	p.P116T	ETF1_ENST00000499810.2_Missense_Mutation_p.P83T|ETF1_ENST00000514005.1_5'UTR|ETF1_ENST00000503014.1_Missense_Mutation_p.P102T	NM_004730.3	NP_004721.1	P62495	ERF1_HUMAN	eukaryotic translation termination factor 1	116					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|protein methylation (GO:0006479)|regulation of translational termination (GO:0006449)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational termination (GO:0006415)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	poly(A) RNA binding (GO:0044822)|ribosome binding (GO:0043022)|RNA binding (GO:0003723)|translation release factor activity (GO:0003747)|translation release factor activity, codon specific (GO:0016149)|translation termination factor activity (GO:0008079)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)|urinary_tract(1)	18			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			GGTTTGAAAGGTTCAAAGTCA	0.363																																						ENST00000499810.2																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)|urinary_tract(1)	18						c.(247-249)Cct>Act		eukaryotic translation termination factor 1							158	143	148					5																	137853306		2203	4300	6503	SO:0001583	missense	2107				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|protein methylation|regulation of translational termination	cytoplasm	protein binding|ribosome binding|translation release factor activity, codon specific	g.chr5:137853306G>T	AF095901	CCDS4207.1, CCDS75313.1, CCDS75314.1	5q31.2	2008-02-05			ENSG00000120705	ENSG00000120705			3477	protein-coding gene	gene with protein product	"sup45 (yeast omnipotent suppressor 45) homolog-like 1", "polypeptide chain release factor 1"	600285		SUP45L1, ERF1, ERF		1546371, 7990965	Standard	NM_004730		Approved	eRF1, TB3-1, RF1	uc003ldc.5	P62495	OTTHUMG00000129199	ENST00000360541.5:c.346C>A	5.37:g.137853306G>T	ENSP00000353741:p.Pro116Thr					ETF1_ENST00000503014.1_Missense_Mutation_p.P102T|ETF1_ENST00000360541.5_Missense_Mutation_p.P116T|ETF1_ENST00000514005.1_5'UTR	p.P83T			P62495	ERF1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)		4	695	-			116					B2R6B4|D3DQC1|P46055|Q5M7Z7|Q96CG1	Missense_Mutation	SNP	ENST00000360541.5	37	c.247C>A	CCDS4207.1	.	.	.	.	.	.	.	.	.	.	G	27.2	4.807067	0.90623	.	.	ENSG00000120705	ENST00000499810;ENST00000360541;ENST00000503014;ENST00000507939	.	.	.	5.24	5.24	0.73138	eRF1 domain 1/Pelota-like (1);Peptide Chain Release Factor eRF1/aRF1, N-terminal (2);	0.098933	0.64402	D	0.000001	D	0.91686	0.7372	H	0.99516	4.605	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.95421	0.8507	9	0.87932	D	0	-5.4064	18.4198	0.90586	0.0:0.0:1.0:0.0	.	102;116	B7Z7P8;P62495	.;ERF1_HUMAN	T	83;116;102;83	.	ENSP00000353741:P116T	P	-	1	0	ETF1	137881205	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.819000	0.99357	2.445000	0.82738	0.655000	0.94253	CCT		0.363	ETF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251276.2	NM_004730		7	76	1	0	8.12818e-05	1	8.41173e-05	7	76					T	137853306	G	T	137853306	3	4	256	1	0	0	0	0	1	0	0	0	5268	1261	44	5	999	5	ETF1	5	137853306	Missense_Mutation	SNP	G	TCGA-HC-A9TE-01A-11D-A41K-08	401857	137853306	43061954	18	11976											
PCDHB4	56131	broad.mit.edu	37	chr5	140503073	140503073	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gccccaggacccgcacctgcCcctcgcctccctggtctcca	4	6	8	23	2	1	0	0	0	1	0	4	1	2	1	9	2	1	1	9	2	0	0			TCGA-HC-A9TE-01A-11D-A41K-08	TCGA-HC-A9TE-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8483a81-abcb-43d1-abea-e4c00743c928	8ee5606a-20d7-43a6-a199-d18c295e4b1d	g.chr5:140503073C>G	ENST00000194152.1	+	1	1493	c.1493C>G	c.(1492-1494)cCc>cGc	p.P498R	AC005754.8_ENST00000606030.1_lincRNA	NM_018938.2	NP_061761.1	Q9Y5E5	PCDB4_HUMAN	protocadherin beta 4	498	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	67			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCGCACCTGCCCCTCGCCTCC	0.687																																						ENST00000194152.1																			0				autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	67						c.(1492-1494)cCc>cGc									35	41	39					5																	140503073		2186	4251	6437	SO:0001583	missense	0				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton	calcium ion binding	g.chr5:140503073C>G	AF152497	CCDS4246.1	5q31	2010-01-26			ENSG00000081818	ENSG00000081818		"Cadherins / Protocadherins : Clustered"	8689	other	protocadherin		606330				10380929	Standard	NM_018938		Approved	PCDH-BETA4	uc003lip.1	Q9Y5E5	OTTHUMG00000129617	ENST00000194152.1:c.1493C>G	5.37:g.140503073C>G	ENSP00000194152:p.Pro498Arg						p.P498R	NM_018938.2	NP_061761.1	Q9Y5E5	PCDB4_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1493	+			498			Cadherin 5.		Q4V761	Missense_Mutation	SNP	ENST00000194152.1	37	c.1493C>G	CCDS4246.1	.	.	.	.	.	.	.	.	.	.	C	8.468	0.856780	0.17106	.	.	ENSG00000081818	ENST00000194152	T	0.01705	4.68	3.95	0.854	0.19007	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.03136	0.0092	M	0.67569	2.06	0.09310	N	1	B	0.12013	0.005	B	0.21151	0.033	T	0.30650	-0.9971	9	0.72032	D	0.01	.	9.7262	0.40333	0.1466:0.5799:0.2735:0.0	.	498	Q9Y5E5	PCDB4_HUMAN	R	498	ENSP00000194152:P498R	ENSP00000194152:P498R	P	+	2	0	PCDHB4	140483257	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	0.289000	0.18957	0.056000	0.16144	0.650000	0.86243	CCC		0.687	PCDHB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251812.2	NM_018938		13	74	0	0	0	1	0	13	74					G	140503073	C	G	140503073	3	3	256	1	0	0	0	0	1	0	0	0	11544	623	22	5	1495	5	PCDHB4	5	140503073	Missense_Mutation	SNP	C	TCGA-HC-A9TE-01A-11D-A41K-08	2649767	140503073	40412187	19	11977											
DSP	1832	broad.mit.edu	37	chr6	7580296	7580296	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atgcagaagaagcagcatctGgagatagaactgaagcaggt	16	6	13	6	0	1	5	0	1	1	4	1	6	1	5	0	2	5	4	0	2	5	1			TCGA-HC-A9TE-01A-11D-A41K-08	TCGA-HC-A9TE-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8483a81-abcb-43d1-abea-e4c00743c928	8ee5606a-20d7-43a6-a199-d18c295e4b1d	g.chr6:7580296G>A	ENST00000379802.3	+	23	4214	c.3873G>A	c.(3871-3873)ctG>ctA	p.L1291L	DSP_ENST00000418664.2_Intron	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	1291	Central fibrous rod domain.				adherens junction organization (GO:0034332)|apoptotic process (GO:0006915)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|desmosome organization (GO:0002934)|epidermis development (GO:0008544)|intermediate filament organization (GO:0045109)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)|protein localization to adherens junction (GO:0071896)|regulation of heart rate by cardiac conduction (GO:0086091)|single organismal cell-cell adhesion (GO:0016337)|ventricular cardiac muscle cell action potential (GO:0086005)|ventricular compact myocardium morphogenesis (GO:0003223)|wound healing (GO:0042060)	basolateral plasma membrane (GO:0016323)|cornified envelope (GO:0001533)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intercalated disc (GO:0014704)|intermediate filament (GO:0005882)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|protein binding, bridging (GO:0030674)|protein kinase C binding (GO:0005080)|scaffold protein binding (GO:0097110)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		AGCAGCATCTGGAGATAGAAC	0.537																																						ENST00000379802.3																			0				biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101						c.(3871-3873)ctG>ctA		desmoplakin							90	92	91					6																	7580296		2203	4300	6503	SO:0001819	synonymous_variant	1832				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton	g.chr6:7580296G>A	J05211	CCDS4501.1, CCDS47368.1	6p24.3	2014-09-17	2003-05-20		ENSG00000096696	ENSG00000096696			3052	protein-coding gene	gene with protein product		125647	"desmoplakin (DPI, DPII)"			1889810	Standard	NM_004415		Approved	KPPS2, PPKS2, DPI, DPII	uc003mxp.1	P15924	OTTHUMG00000014212	ENST00000379802.3:c.3873G>A	6.37:g.7580296G>A						DSP_ENST00000418664.2_Intron	p.L1291L	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN		OV - Ovarian serous cystadenocarcinoma(45;0.000508)	23	4214	+	Ovarian(93;0.0584)	all_hematologic(90;0.236)	1291			Central fibrous rod domain.		B2RTT2|D7RX09|O75993|Q14189|Q9UHN4	Silent	SNP	ENST00000379802.3	37	c.3873G>A	CCDS4501.1																																																																																				0.537	DSP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039786.2	NM_004415		4	96	0	0	0	1	0	4	96					A	7580296	G	A	7580296	2	1	256	1	0	0	0	0	0	0	0	1	4781	1335	47	3		3	DSP	6	7580296	Silent	SNP	G	TCGA-HC-A9TE-01A-11D-A41K-08		7580296	163534771	20	11978											
KCNK5	8645	broad.mit.edu	37	chr6	39159391	39159391	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctccttccgtcgccgccgccGcttcttaatggctttgtgga	3	13	10	15	5	1	0	0	0	1	0	4	1	3	1	5	2	0	2	5	2	1	4			TCGA-HC-A9TE-01A-11D-A41K-08	TCGA-HC-A9TE-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8483a81-abcb-43d1-abea-e4c00743c928	8ee5606a-20d7-43a6-a199-d18c295e4b1d	g.chr6:39159391G>A	ENST00000359534.3	-	5	1113	c.775C>T	c.(775-777)Cgg>Tgg	p.R259W		NM_003740.3	NP_003731.1	O95279	KCNK5_HUMAN	potassium channel, subfamily K, member 5	259					excretion (GO:0007588)|potassium ion transport (GO:0006813)	integral component of plasma membrane (GO:0005887)	potassium channel activity (GO:0005267)|voltage-gated ion channel activity (GO:0005244)			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(4)|skin(3)	19						CGCCGCCGCCGCTTCTTAATG	0.577																																						ENST00000359534.3																			0				central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(4)|skin(3)	19						c.(775-777)Cgg>Tgg		potassium channel, subfamily K, member 5							80	88	85					6																	39159391		2203	4300	6503	SO:0001583	missense	8645				excretion	integral to plasma membrane	potassium channel activity|voltage-gated ion channel activity	g.chr6:39159391G>A	AF084830	CCDS4841.1	6p21	2012-03-07			ENSG00000164626	ENSG00000164626		"Potassium channels", "Voltage-gated ion channels / Potassium channels, Two-P"	6280	protein-coding gene	gene with protein product		603493				9812978, 16382106	Standard	XM_005249456		Approved	K2p5.1, TASK-2	uc003oon.3	O95279	OTTHUMG00000014642	ENST00000359534.3:c.775C>T	6.37:g.39159391G>A	ENSP00000352527:p.Arg259Trp						p.R259W	NM_003740.3	NP_003731.1	O95279	KCNK5_HUMAN			5	1113	-			259					B2RAQ6|B5TJL2|Q5VV76	Missense_Mutation	SNP	ENST00000359534.3	37	c.775C>T	CCDS4841.1	.	.	.	.	.	.	.	.	.	.	G	17.96	3.515791	0.64634	.	.	ENSG00000164626	ENST00000359534	T	0.25579	1.79	5.05	0.967	0.19674	.	4.915100	0.00589	N	0.000349	T	0.29256	0.0728	L	0.34521	1.04	0.44918	D	0.997933	D	0.89917	1.0	D	0.64687	0.928	T	0.39482	-0.9612	10	0.87932	D	0	.	15.0727	0.72049	0.0:0.0:0.3833:0.6167	.	259	O95279	KCNK5_HUMAN	W	259	ENSP00000352527:R259W	ENSP00000352527:R259W	R	-	1	2	KCNK5	39267369	1.000000	0.71417	0.998000	0.56505	0.942000	0.58702	2.654000	0.46699	-0.047000	0.13423	-0.310000	0.09108	CGG		0.577	KCNK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040449.1	NM_003740		18	93	0	0	0	1	0	18	93					A	39159391	G	A	39159391	3	1	256	1	0	0	0	0	1	0	0	0	8069	1086	38	1	728	1	KCNK5	6	39159391	Missense_Mutation	SNP	G	TCGA-HC-A9TE-01A-11D-A41K-08	31579095	39159391	131955676	21	11979											
CD109	135228	broad.mit.edu	37	chr6	74440153	74440153	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttattctctaatagtacccgCttatcatttgagaccaagag	12	14	6	9	1	2	2	1	1	1	2	3	3	2	2	2	0	1	2	2	0	6	7			TCGA-HC-A9TE-01A-11D-A41K-08	TCGA-HC-A9TE-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8483a81-abcb-43d1-abea-e4c00743c928	8ee5606a-20d7-43a6-a199-d18c295e4b1d	g.chr6:74440153C>T	ENST00000287097.5	+	4	475	c.363C>T	c.(361-363)cgC>cgT	p.R121R	CD109_ENST00000437994.2_Silent_p.R121R|CD109_ENST00000422508.2_Intron			Q6YHK3	CD109_HUMAN	CD109 molecule	121					negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of wound healing (GO:0061045)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	serine-type endopeptidase inhibitor activity (GO:0004867)|transforming growth factor beta binding (GO:0050431)			NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						ATAGTACCCGCTTATCATTTG	0.418																																						ENST00000437994.2																			0				NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						c.(361-363)cgC>cgT		CD109 molecule							131	127	128					6																	74440153		2203	4300	6503	SO:0001819	synonymous_variant	135228					anchored to membrane|extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity	g.chr6:74440153C>T	AF410459	CCDS4982.1, CCDS55038.1, CCDS55039.1	6q14.1	2008-02-05	2006-03-28		ENSG00000156535	ENSG00000156535		"CD molecules"	21685	protein-coding gene	gene with protein product		608859	"CD109 antigen (Gov platelet alloantigens)"			11861284, 11861285	Standard	XM_005248659		Approved	FLJ38569, DKFZp762L1111, CPAMD7	uc003php.3	Q6YHK3	OTTHUMG00000015040	ENST00000287097.5:c.363C>T	6.37:g.74440153C>T						CD109_ENST00000422508.2_Intron|CD109_ENST00000287097.5_Silent_p.R121R	p.R121R	NM_001159587.1|NM_133493.3	NP_001153059.1|NP_598000.2	Q6YHK3	CD109_HUMAN			4	794	+			121					A5YKK4|B2R948|B3KW25|Q0P6K7|Q5SYA8|Q5XUM7|Q5XUM9|Q6MZI7|Q8N3A7|Q8N915|Q8TDJ2|Q8TDJ3	Silent	SNP	ENST00000287097.5	37	c.363C>T	CCDS4982.1																																																																																				0.418	CD109-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041230.3	NM_133493		10	61	0	0	0	1	0	10	61					T	74440153	C	T	74440153	2	4	256	1	0	0	0	0	0	0	0	1	2963	784	28	3		3	CD109	6	74440153	Silent	SNP	C	TCGA-HC-A9TE-01A-11D-A41K-08	35280762	74440153	96674914	22	11980											
ABHD11	83451	broad.mit.edu	37	chr7	73150932	73150932	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagctatgaagtcctgtgggCggtcagcgtggatccagtgg	7	9	16	9	2	1	1	1	1	0	0	3	2	3	2	2	4	2	1	2	4	2	1	rs374778806		TCGA-HC-A9TE-01A-11D-A41K-08	TCGA-HC-A9TE-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8483a81-abcb-43d1-abea-e4c00743c928	8ee5606a-20d7-43a6-a199-d18c295e4b1d	g.chr7:73150932C>T	ENST00000222800.3	-	6	974	c.905G>A	c.(904-906)cGc>cAc	p.R302H	LINC00035_ENST00000427153.1_RNA|ABHD11_ENST00000458339.1_3'UTR|ABHD11_ENST00000395147.4_Missense_Mutation_p.R245H|ABHD11_ENST00000437775.2_Missense_Mutation_p.R295H|ABHD11_ENST00000468998.1_5'Flank	NM_148912.2	NP_683710.1	Q8NFV4	ABHDB_HUMAN	abhydrolase domain containing 11	302						mitochondrion (GO:0005739)	hydrolase activity (GO:0016787)			breast(1)|endometrium(1)|large_intestine(1)|lung(1)	4		Lung NSC(55;0.0908)|all_lung(88;0.198)				GTCCTGTGGGCGGTCAGCGTG	0.612																																						ENST00000222800.3																			0				breast(1)|endometrium(1)|large_intestine(1)|lung(1)	4						c.(904-906)cGc>cAc		abhydrolase domain containing 11		C	HIS/ARG,HIS/ARG,HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	109	103	105		884,905,734	0.2	0	7		105	0,8600		0,0,4300	no	missense,missense,missense	ABHD11	NM_148913.2,NM_148912.2,NM_001145364.1	29,29,29	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign,benign,benign	295/309,302/316,245/259	73150932	1,13005	2203	4300	6503	SO:0001583	missense	83451						hydrolase activity	g.chr7:73150932C>T	AF217971	CCDS5558.1, CCDS47607.1, CCDS47608.1, CCDS75615.1	7q11.23	2010-08-05	2005-01-24	2005-01-27	ENSG00000106077	ENSG00000106077		"Abhydrolase domain containing"	16407	protein-coding gene	gene with protein product			"Williams Beuren syndrome chromosome region 21"	WBSCR21		12073013	Standard	NR_026910		Approved	PP1226	uc003tzb.3	Q8NFV4	OTTHUMG00000130029	ENST00000222800.3:c.905G>A	7.37:g.73150932C>T	ENSP00000222800:p.Arg302His					ABHD11_ENST00000458339.1_3'UTR|ABHD11_ENST00000395147.4_Missense_Mutation_p.R245H|ABHD11_ENST00000437775.2_Missense_Mutation_p.R295H	p.R302H	NM_148912.2	NP_683710.1	Q8NFV4	ABHDB_HUMAN			6	974	-		Lung NSC(55;0.0908)|all_lung(88;0.198)	302					H7BYM8|Q6PJU0|Q8N722|Q8N723|Q8NFV2|Q8NFV3|Q9HBS8	Missense_Mutation	SNP	ENST00000222800.3	37	c.905G>A	CCDS5558.1	.	.	.	.	.	.	.	.	.	.	C	14.75	2.629165	0.46944	2.27E-4	0.0	ENSG00000106077	ENST00000437775;ENST00000222800;ENST00000395147	T;T;T	0.66638	-0.22;-0.22;-0.22	4.82	0.238	0.15480	.	0.464706	0.20475	N	0.091606	T	0.64260	0.2582	L	0.50919	1.6	0.20764	N	0.999856	D;B	0.63880	0.993;0.334	P;B	0.52710	0.707;0.109	T	0.56774	-0.7923	10	0.72032	D	0.01	-1.6672	6.1777	0.20453	0.0:0.406:0.0:0.594	.	295;302	Q8NFV4-4;Q8NFV4	.;ABHDB_HUMAN	H	295;302;245	ENSP00000416970:R295H;ENSP00000222800:R302H;ENSP00000378579:R245H	ENSP00000222800:R302H	R	-	2	0	ABHD11	72788868	1.000000	0.71417	0.032000	0.17829	0.175000	0.22909	2.473000	0.45145	0.110000	0.17919	0.561000	0.74099	CGC		0.612	ABHD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252306.1			8	76	0	0	0	1	0	8	76					T	73150932	C	T	73150932	3	4	256	1	0	0	0	0	1	0	0	0	75	768	27	1	46	1	ABHD11	7	73150932	Missense_Mutation	SNP	C	TCGA-HC-A9TE-01A-11D-A41K-08		73150932	85987731	23	11981											
HGSNAT	138050	broad.mit.edu	37	chr8	43025733	43025733	+	Frame_Shift_Del	DEL	G	G	-																															cctttttttctgaaggagctGggatctcccagcaggacaga																										TCGA-HC-A9TE-01A-11D-A41K-08	TCGA-HC-A9TE-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8483a81-abcb-43d1-abea-e4c00743c928	8ee5606a-20d7-43a6-a199-d18c295e4b1d	g.chr8:43025733delG	ENST00000458501.2	+	7	723	c.723delG	c.(721-723)ctgfs	p.L241fs	HGSNAT_ENST00000379644.4_Frame_Shift_Del_p.L213fs			Q68CP4	HGNAT_HUMAN	heparan-alpha-glucosaminide N-acetyltransferase	241					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|lysosomal transport (GO:0007041)|protein oligomerization (GO:0051259)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	heparan-alpha-glucosaminide N-acetyltransferase activity (GO:0015019)|transferase activity, transferring acyl groups (GO:0016746)			cervix(1)|endometrium(2)|large_intestine(4)|lung(6)	13	Prostate(17;0.0119)|Ovarian(28;0.0172)|Lung SC(25;0.184)	all_cancers(86;0.000223)|all_epithelial(80;1.61e-07)|all_lung(54;0.00021)|Lung NSC(58;0.000778)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	Lung(22;0.0777)|LUSC - Lung squamous cell carcinoma(45;0.17)			TGAAGGAGCTGGGATCTCCCA	0.473																																						ENST00000458501.2																			0				cervix(1)|endometrium(2)|large_intestine(4)|lung(6)	13						c.(721-723)ctfs		heparan-alpha-glucosaminide N-acetyltransferase							45	44	45					8																	43025733		1928	4138	6066	SO:0001589	frameshift_variant	138050				lysosomal transport|protein oligomerization	integral to membrane|lysosomal membrane	heparan-alpha-glucosaminide N-acetyltransferase activity	g.chr8:43025733delG		CCDS47852.1	8p11.1	2011-11-16	2006-09-05	2006-08-16	ENSG00000165102	ENSG00000165102	2.3.1.78		26527	protein-coding gene	gene with protein product		610453	"transmembrane protein 76"	TMEM76		17033958, 16960811	Standard	NM_152419		Approved	FLJ32731, HGNAT	uc003xpx.4	Q68CP4	OTTHUMG00000164102	ENST00000458501.2:c.723delG	8.37:g.43025733delG	ENSP00000389524:p.Leu241fs					HGSNAT_ENST00000379644.4_Frame_Shift_Del_p.L213fs	p.L241fs			Q68CP4	HGNAT_HUMAN	Lung(22;0.0777)|LUSC - Lung squamous cell carcinoma(45;0.17)		7	723	+	Prostate(17;0.0119)|Ovarian(28;0.0172)|Lung SC(25;0.184)	all_cancers(86;0.000223)|all_epithelial(80;1.61e-07)|all_lung(54;0.00021)|Lung NSC(58;0.000778)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	241					B4E2V0	Frame_Shift_Del	DEL	ENST00000458501.2	37	c.723delG																																																																																					0.473	HGSNAT-202	KNOWN	basic	protein_coding	protein_coding		XM_372038		2	4						2	4	---	---	---	---	-	43025733	G	-	43025733	7	5	256	1	0	1	0	1	0	0	0	0	7088	1335	47	0	665	0	HGSNAT	8	43025733	Frame_Shift_Del	DEL	G	TCGA-HC-A9TE-01A-11D-A41K-08		43025733	103338289	24	11982											
MOS	4342	broad.mit.edu	37	chr8	57026322	57026322	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gcggtaagtcgccttgtacaCcgagccaaaccctccagctc	9	7	9	16	3	0	0	0	0	0	0	3	1	1	0	5	1	4	3	5	1	3	3			TCGA-HC-A9TE-01A-11D-A41K-08	TCGA-HC-A9TE-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8483a81-abcb-43d1-abea-e4c00743c928	8ee5606a-20d7-43a6-a199-d18c295e4b1d	g.chr8:57026322C>A	ENST00000311923.1	-	1	219	c.220G>T	c.(220-222)Gtg>Ttg	p.V74L		NM_005372.1	NP_005363.1	P00540	MOS_HUMAN	v-mos Moloney murine sarcoma viral oncogene homolog	74	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|chromatin organization (GO:0006325)|establishment of meiotic spindle orientation (GO:0051296)|MAPK cascade (GO:0000165)|meiotic spindle organization (GO:0000212)|negative regulation of metaphase/anaphase transition of meiotic cell cycle (GO:1902103)|protein autophosphorylation (GO:0046777)|regulation of meiosis (GO:0040020)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(1)|large_intestine(5)|lung(12)|ovary(1)|urinary_tract(2)	22			Epithelial(17;0.00117)|all cancers(17;0.00879)			GCCTTGTACACCGAGCCAAAC	0.627																																					Esophageal Squamous(124;373 2870 4778)	ENST00000311923.1																			0				breast(1)|central_nervous_system(1)|large_intestine(5)|lung(12)|ovary(1)|urinary_tract(2)	22						c.(220-222)Gtg>Ttg		v-mos Moloney murine sarcoma viral oncogene homolog							92	81	85					8																	57026322		2203	4300	6503	SO:0001583	missense	4342						ATP binding|protein binding|protein serine/threonine kinase activity	g.chr8:57026322C>A		CCDS6164.1	8q11	2012-10-02			ENSG00000172680	ENSG00000172680			7199	protein-coding gene	gene with protein product		190060				9552420	Standard	NM_005372		Approved		uc011leb.2	P00540	OTTHUMG00000164299	ENST00000311923.1:c.220G>T	8.37:g.57026322C>A	ENSP00000310722:p.Val74Leu						p.V74L	NM_005372.1	NP_005363.1	P00540	MOS_HUMAN	Epithelial(17;0.00117)|all cancers(17;0.00879)		1	219	-			74			Protein kinase.		Q3KPG9|Q3KPH0	Missense_Mutation	SNP	ENST00000311923.1	37	c.220G>T	CCDS6164.1	.	.	.	.	.	.	.	.	.	.	C	25.2	4.615144	0.87359	.	.	ENSG00000172680	ENST00000311923	D	0.98264	-4.83	5.14	5.14	0.70334	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	D	0.000002	D	0.99111	0.9694	M	0.89095	3.005	0.80722	D	1	D	0.67145	0.996	D	0.87578	0.998	D	0.99643	1.0989	10	0.87932	D	0	.	18.6116	0.91286	0.0:1.0:0.0:0.0	.	74	P00540	MOS_HUMAN	L	74	ENSP00000310722:V74L	ENSP00000310722:V74L	V	-	1	0	MOS	57188876	1.000000	0.71417	0.976000	0.42696	0.698000	0.40448	7.697000	0.84279	2.387000	0.81309	0.557000	0.71058	GTG		0.627	MOS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378174.1	NM_005372		12	117	1	0	9.05144e-12	1	9.94541e-12	12	117					A	57026322	C	A	57026322	3	1	256	1	0	0	0	0	1	0	0	0	9712	507	18	5	823	5	MOS	8	57026322	Missense_Mutation	SNP	C	TCGA-HC-A9TE-01A-11D-A41K-08	14000589	57026322	89337700	25	11983											
CHD7	55636	broad.mit.edu	37	chr8	61693702	61693703	+	Frame_Shift_Ins	INS	-	-	A																															agaagaagaaaaagaaaaacINSaaccacattgtagcagagga																										TCGA-HC-A9TE-01A-11D-A41K-08	TCGA-HC-A9TE-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8483a81-abcb-43d1-abea-e4c00743c928	8ee5606a-20d7-43a6-a199-d18c295e4b1d	g.chr8:61693702_61693703insA	ENST00000423902.2	+	3	2288_2289	c.1809_1810insA	c.(1810-1812)aacfs	p.N604fs	CHD7_ENST00000524602.1_Intron|CHD7_ENST00000525508.1_Frame_Shift_Ins_p.N604fs	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	604	Lys-rich.				adult heart development (GO:0007512)|adult walking behavior (GO:0007628)|artery morphogenesis (GO:0048844)|blood circulation (GO:0008015)|central nervous system development (GO:0007417)|chromatin modification (GO:0016568)|cognition (GO:0050890)|cranial nerve development (GO:0021545)|embryonic hindlimb morphogenesis (GO:0035116)|epithelium development (GO:0060429)|face development (GO:0060324)|female genitalia development (GO:0030540)|genitalia development (GO:0048806)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|inner ear morphogenesis (GO:0042472)|limb development (GO:0060173)|nose development (GO:0043584)|olfactory behavior (GO:0042048)|olfactory bulb development (GO:0021772)|olfactory nerve development (GO:0021553)|palate development (GO:0060021)|positive regulation of multicellular organism growth (GO:0040018)|regulation of growth hormone secretion (GO:0060123)|regulation of neurogenesis (GO:0050767)|regulation of transcription, DNA-templated (GO:0006355)|retina development in camera-type eye (GO:0060041)|rRNA processing (GO:0006364)|semicircular canal morphogenesis (GO:0048752)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|T cell differentiation (GO:0030217)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)	p.556_871dup(1)		NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			AAAAGAAAAACAACCACATTGT	0.431																																						ENST00000423902.2																			1	Insertion - In frame(1)	p.556_871dup(1)	lung(1)	NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123						c.(1807-1812)aaaccafs		chromodomain helicase DNA binding protein 7																																				SO:0001589	frameshift_variant	55636				central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent	nucleus	ATP binding|chromatin binding|DNA binding|helicase activity	g.chr8:61693702_61693703insA	AB037837	CCDS47865.1	8q12.2	2014-09-17				ENSG00000171316			20626	protein-coding gene	gene with protein product		608892	"CHARGE association"	CRG		15300250, 18834967	Standard	NM_017780		Approved	KIAA1416, FLJ20357, FLJ20361	uc003xue.3	Q9P2D1		ENST00000423902.2:c.1811dupA	8.37:g.61693704_61693704dupA	ENSP00000392028:p.Asn604fs					CHD7_ENST00000524602.1_Intron|CHD7_ENST00000525508.1_Frame_Shift_Ins_p.P604fs	p.P604fs	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.143)		3	2288_2289	+		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	604			Lys-rich.		D0VBA5|E9PNZ2|Q05DI5|Q2TAN4|Q66K35|Q7Z6C0|Q7Z7Q2|Q9NXA0|Q9NXA3	Frame_Shift_Ins	INS	ENST00000423902.2	37	c.1809_1810insA	CCDS47865.1																																																																																				0.431	CHD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383468.2	XM_098762		6	6						6	6	---	---	---	---	A	61693703	-	A	61693702	7	5	256	1	0	1	1	0	0	0	0	0	3330	477	17	0	1815	0	CHD7	8	61693702	Frame_Shift_Ins	INS	-	TCGA-HC-A9TE-01A-11D-A41K-08	4667380	61693702	84670320	26	11984											
DOCK8	81704	broad.mit.edu	37	chr9	396793	396793	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccccctccgcaggtgaaaagCatggcccagcacgtacataa	12	5	9	15	2	0	1	0	1	0	0	1	1	1	1	4	2	3	4	4	2	4	2			TCGA-HC-A9TE-01A-11D-A41K-08	TCGA-HC-A9TE-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8483a81-abcb-43d1-abea-e4c00743c928	8ee5606a-20d7-43a6-a199-d18c295e4b1d	g.chr9:396793C>T	ENST00000453981.1	+	25	3091	c.2979C>T	c.(2977-2979)agC>agT	p.S993S	DOCK8_ENST00000382329.1_Silent_p.S460S|DOCK8_ENST00000432829.2_Silent_p.S925S|DOCK8_ENST00000469391.1_Silent_p.S893S|DOCK8_ENST00000382331.1_Silent_p.S295S			Q8NF50	DOCK8_HUMAN	dedicator of cytokinesis 8	993					blood coagulation (GO:0007596)|dendritic cell migration (GO:0036336)|immunological synapse formation (GO:0001771)|memory T cell proliferation (GO:0061485)|negative regulation of T cell apoptotic process (GO:0070233)|small GTPase mediated signal transduction (GO:0007264)	cell leading edge (GO:0031252)|cytosol (GO:0005829)|membrane (GO:0016020)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)		AGGTGAAAAGCATGGCCCAGC	0.468																																						ENST00000432829.2																			0				breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65						c.(2773-2775)agC>agT		dedicator of cytokinesis 8							171	160	164					9																	396793		2203	4300	6503	SO:0001819	synonymous_variant	81704				blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	g.chr9:396793C>T	AK090429	CCDS6440.1, CCDS6440.2, CCDS55283.1, CCDS55284.1	9p24.3	2014-09-17			ENSG00000107099	ENSG00000107099			19191	protein-coding gene	gene with protein product		611432				11214971	Standard	NM_203447		Approved	FLJ00026, FLJ00152, ZIR8, FLJ00346	uc003zgf.2	Q8NF50	OTTHUMG00000078789	ENST00000453981.1:c.2979C>T	9.37:g.396793C>T						DOCK8_ENST00000382329.1_Silent_p.S460S|DOCK8_ENST00000469391.1_Silent_p.S893S|DOCK8_ENST00000382331.1_Silent_p.S295S|DOCK8_ENST00000453981.1_Silent_p.S993S	p.S925S	NM_203447.3	NP_982272.2	Q8NF50	DOCK8_HUMAN		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)	25	3091	+		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)	993					A2A350|A2BDF2|A4FU78|B7ZLP0|E9PH09|Q3MV16|Q5JPJ1|Q8TEP1|Q8WUY2|Q9BYJ5|Q9H1Q2|Q9H1Q3|Q9H308|Q9H7P2	Silent	SNP	ENST00000453981.1	37	c.2775C>T	CCDS6440.2																																																																																				0.468	DOCK8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171792.5	XM_036307		14	108	0	0	0	1	0	14	108					T	396793	C	T	396793	2	4	256	1	0	0	0	0	0	0	0	1	4693	709	25	3		3	DOCK8	9	396793	Silent	SNP	C	TCGA-HC-A9TE-01A-11D-A41K-08		396793	140816638	27	11985											
LINGO2	158038	broad.mit.edu	37	chr9	27948936	27948936	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tttctgggcacatactcaagGtcaatgctgtttttgtgctt	7	17	9	8	0	3	0	2	0	1	0	3	0	3	0	0	2	3	4	0	2	3	5			TCGA-HC-A9TE-01A-11D-A41K-08	TCGA-HC-A9TE-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8483a81-abcb-43d1-abea-e4c00743c928	8ee5606a-20d7-43a6-a199-d18c295e4b1d	g.chr9:27948936G>T	ENST00000379992.2	-	6	2183	c.1734C>A	c.(1732-1734)gaC>gaA	p.D578E	LINGO2_ENST00000308675.3_Missense_Mutation_p.D578E	NM_152570.2	NP_689783.1	Q7L985	LIGO2_HUMAN	leucine rich repeat and Ig domain containing 2	578						integral component of membrane (GO:0016021)				autonomic_ganglia(1)|breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	44	Melanoma(11;0.242)	all_neural(11;2.78e-09)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0818)|GBM - Glioblastoma multiforme(2;1.31e-34)|all cancers(2;2.37e-25)|Lung(2;7.48e-08)|LUSC - Lung squamous cell carcinoma(38;5.09e-07)|KIRC - Kidney renal clear cell carcinoma(2;0.0465)|Kidney(2;0.0604)		CATACTCAAGGTCAATGCTGT	0.478																																						ENST00000379992.2																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	44						c.(1732-1734)gaC>gaA		leucine rich repeat and Ig domain containing 2							117	103	107					9																	27948936		2203	4300	6503	SO:0001583	missense	158038					integral to membrane		g.chr9:27948936G>T	AL353746	CCDS6524.1	9p21.2	2013-01-11	2007-02-01	2007-02-01	ENSG00000174482	ENSG00000174482		"Immunoglobulin superfamily / I-set domain containing"	21207	protein-coding gene	gene with protein product		609793	"leucine rich repeat neuronal 6C"	LRRN6C		14686891	Standard	NM_152570		Approved	LERN3	uc003zqu.2	Q7L985	OTTHUMG00000019721	ENST00000379992.2:c.1734C>A	9.37:g.27948936G>T	ENSP00000369328:p.Asp578Glu					LINGO2_ENST00000308675.3_Missense_Mutation_p.D578E	p.D578E	NM_152570.2	NP_689783.1	Q7L985	LIGO2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (5;0.0818)|GBM - Glioblastoma multiforme(2;1.31e-34)|all cancers(2;2.37e-25)|Lung(2;7.48e-08)|LUSC - Lung squamous cell carcinoma(38;5.09e-07)|KIRC - Kidney renal clear cell carcinoma(2;0.0465)|Kidney(2;0.0604)	6	2183	-	Melanoma(11;0.242)	all_neural(11;2.78e-09)	578					A8K4K7|B2RPM5|Q6ZMD0	Missense_Mutation	SNP	ENST00000379992.2	37	c.1734C>A	CCDS6524.1	.	.	.	.	.	.	.	.	.	.	G	0.018	-1.477910	0.01035	.	.	ENSG00000174482	ENST00000379992;ENST00000308675	T;T	0.55052	0.54;0.54	5.83	4.93	0.64822	.	0.000000	0.85682	D	0.000000	T	0.33265	0.0857	N	0.16368	0.405	0.52099	D	0.999949	B	0.17268	0.021	B	0.16289	0.015	T	0.12293	-1.0553	9	.	.	.	.	10.5345	0.44996	0.1429:0.0:0.8571:0.0	.	578	Q7L985	LIGO2_HUMAN	E	578	ENSP00000369328:D578E;ENSP00000310126:D578E	.	D	-	3	2	LINGO2	27938936	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.010000	0.49559	2.769000	0.95229	0.655000	0.94253	GAC		0.478	LINGO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051978.2	NM_152570		15	63	1	0	1.05317e-09	1	1.14308e-09	15	63					T	27948936	G	T	27948936	3	4	256	1	0	0	0	0	1	0	0	0	8815	1252	44	5	90	5	LINGO2	9	27948936	Missense_Mutation	SNP	G	TCGA-HC-A9TE-01A-11D-A41K-08	27552143	27948936	113264495	28	11986											
NUP188	23511	broad.mit.edu	37	chr9	131743608	131743608	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaacacaagcctcatgatgtGatctcccatgaagatggaac	15	8	8	10	0	2	4	1	3	1	1	3	5	2	5	2	1	3	0	2	1	4	0			TCGA-HC-A9TE-01A-11D-A41K-08	TCGA-HC-A9TE-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8483a81-abcb-43d1-abea-e4c00743c928	8ee5606a-20d7-43a6-a199-d18c295e4b1d	g.chr9:131743608G>T	ENST00000372577.2	+	15	1476	c.1455G>T	c.(1453-1455)gtG>gtT	p.V485V		NM_015354.1	NP_056169.1	Q5SRE5	NU188_HUMAN	nucleoporin 188kDa	485					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)				breast(2)|central_nervous_system(3)|endometrium(6)|kidney(4)|large_intestine(9)|lung(20)|ovary(6)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	60						CTCATGATGTGATCTCCCATG	0.398																																						ENST00000372577.2																			0				breast(2)|central_nervous_system(3)|endometrium(6)|kidney(4)|large_intestine(9)|lung(20)|ovary(6)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	60						c.(1453-1455)gtG>gtT		nucleoporin 188kDa							178	179	179					9																	131743608		2203	4300	6503	SO:0001819	synonymous_variant	23511				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding	g.chr9:131743608G>T	D79991	CCDS35156.1	9q34.13	2014-01-28	2004-03-19	2004-03-24	ENSG00000095319	ENSG00000095319			17859	protein-coding gene	gene with protein product		615587	"KIAA0169"	KIAA0169		11029043	Standard	NM_015354		Approved		uc004bws.2	Q5SRE5	OTTHUMG00000020768	ENST00000372577.2:c.1455G>T	9.37:g.131743608G>T							p.V485V	NM_015354.1	NP_056169.1	Q5SRE5	NU188_HUMAN			15	1476	+			485					Q14675|Q2TA87|Q7Z3K8|Q8IWF1	Silent	SNP	ENST00000372577.2	37	c.1455G>T	CCDS35156.1																																																																																				0.398	NUP188-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054529.2			4	153	1	0	2.56e-06	1	2.68047e-06	4	153					T	131743608	G	T	131743608	2	4	256	1	0	0	0	0	0	0	0	1	10758	1277	45	5		5	NUP188	9	131743608	Silent	SNP	G	TCGA-HC-A9TE-01A-11D-A41K-08	103794672	131743608	9469823	29	11987											
NET1	10276	broad.mit.edu	37	chr10	5497027	5497027	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagcagagggaccccagaatCgaagcgagcaaagtgctgct	14	4	13	10	2	0	2	0	0	0	2	1	5	0	3	2	1	5	4	2	1	4	0	rs113255666		TCGA-HC-A9TE-01A-11D-A41K-08	TCGA-HC-A9TE-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8483a81-abcb-43d1-abea-e4c00743c928	8ee5606a-20d7-43a6-a199-d18c295e4b1d	g.chr10:5497027C>A	ENST00000355029.4	+	10	1285	c.1143C>A	c.(1141-1143)atC>atA	p.I381I	NET1_ENST00000484741.1_3'UTR|NET1_ENST00000542715.1_Silent_p.I200I|NET1_ENST00000380359.3_Silent_p.I327I	NM_001047160.2	NP_001040625.1	Q7Z628	ARHG8_HUMAN	neuroepithelial cell transforming 1	381					apoptotic signaling pathway (GO:0097190)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to ionizing radiation (GO:0071479)|myoblast migration (GO:0051451)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|regulation of cell growth (GO:0001558)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(4)|kidney(2)|large_intestine(9)|lung(5)|prostate(2)|skin(1)	23						ACCCCAGAATCGAAGCGAGCA	0.537																																						ENST00000355029.4																			0				breast(4)|kidney(2)|large_intestine(9)|lung(5)|prostate(2)|skin(1)	23						c.(1141-1143)atC>atA		neuroepithelial cell transforming 1							94	88	90					10																	5497027		2203	4300	6503	SO:0001819	synonymous_variant	10276				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of cell growth|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|nucleus	Rho guanyl-nucleotide exchange factor activity	g.chr10:5497027C>A	AJ010046	CCDS7067.1, CCDS41483.1	10p15	2013-01-10	2008-09-12		ENSG00000173848	ENSG00000173848		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	14592	protein-coding gene	gene with protein product		606450				8649828	Standard	NR_073040		Approved	ARHGEF8, NET1A	uc001iia.4	Q7Z628	OTTHUMG00000017596	ENST00000355029.4:c.1143C>A	10.37:g.5497027C>A						NET1_ENST00000380359.3_Silent_p.I327I|NET1_ENST00000542715.1_Silent_p.I200I|NET1_ENST00000484741.1_3'UTR	p.I381I	NM_001047160.1	NP_001040625.1	Q7Z628	ARHG8_HUMAN			10	1285	+			381					Q12773|Q96D82|Q99903|Q9UEN6	Silent	SNP	ENST00000355029.4	37	c.1143C>A	CCDS41483.1																																																																																				0.537	NET1-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000046553.3	NM_005863		14	69	1	0	7.93312e-07	1	8.40533e-07	14	69					A	5497027	C	A	5497027	2	1	256	1	0	0	0	0	0	0	0	1	10338	874	31	5		5	NET1	10	5497027	Silent	SNP	C	TCGA-HC-A9TE-01A-11D-A41K-08		5497027	130037720	30	11988											
KNDC1	85442	broad.mit.edu	37	chr10	135009218	135009218	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaccgcagccaagttcagcGtcccccgcaaccacaagctg	10	4	10	17	3	1	0	1	0	0	0	2	1	2	1	5	1	4	4	5	1	3	1	rs182563365		TCGA-HC-A9TE-01A-11D-A41K-08	TCGA-HC-A9TE-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8483a81-abcb-43d1-abea-e4c00743c928	8ee5606a-20d7-43a6-a199-d18c295e4b1d	g.chr10:135009218G>A	ENST00000304613.3	+	10	1648	c.1627G>A	c.(1627-1629)Gtc>Atc	p.V543I	KNDC1_ENST00000368571.2_Missense_Mutation_p.V478I|KNDC1_ENST00000368572.2_Missense_Mutation_p.V543I			Q76NI1	VKIND_HUMAN	kinase non-catalytic C-lobe domain (KIND) containing 1	543	KIND 2. {ECO:0000255|PROSITE- ProRule:PRU00709}.				cerebellar granule cell differentiation (GO:0021707)|positive regulation of protein phosphorylation (GO:0001934)|regulation of dendrite morphogenesis (GO:0048814)|small GTPase mediated signal transduction (GO:0007264)	dendrite (GO:0030425)|guanyl-nucleotide exchange factor complex (GO:0032045)|neuronal cell body (GO:0043025)	protein serine/threonine kinase activity (GO:0004674)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)			NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	60		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)		CAAGTTCAGCGTCCCCCGCAA	0.687													G|||	1	0.000199681	8e-04	0	5008	,	,		16017	0		0	False		,,,				2504	0					ENST00000304613.3																			0				NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	60						c.(1627-1629)Gtc>Atc		kinase non-catalytic C-lobe domain (KIND) containing 1			ILE/VAL	1,4405	2.1+/-5.4	0,1,2202	47	42	43		1627	-5.3	0	10		43	3,8597	3.0+/-9.4	0,3,4297	yes	missense	KNDC1	NM_152643.6	29	0,4,6499	AA,AG,GG		0.0349,0.0227,0.0308	benign	543/1750	135009218	4,13002	2203	4300	6503	SO:0001583	missense	85442				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction			g.chr10:135009218G>A	AK074179	CCDS7674.1	10q26.3	2004-09-14	2004-04-07		ENSG00000171798	ENSG00000171798			29374	protein-coding gene	gene with protein product			"RasGEF domain family, member 2"	RASGEF2, C10orf23		11214970	Standard	NM_152643		Approved	KIAA1768, bB439H18.3, FLJ25027	uc001llz.1	Q76NI1	OTTHUMG00000019303	ENST00000304613.3:c.1627G>A	10.37:g.135009218G>A	ENSP00000304437:p.Val543Ile					KNDC1_ENST00000368571.2_Missense_Mutation_p.V478I|KNDC1_ENST00000368572.2_Missense_Mutation_p.V543I	p.V543I			Q76NI1	VKIND_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)	10	1648	+		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)	543			KIND 2.		B0QZC5|Q5T233|Q6ZNH8|Q8TEE5|Q96LV7|Q9C095	Missense_Mutation	SNP	ENST00000304613.3	37	c.1627G>A	CCDS7674.1	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	G	1.067	-0.671207	0.03403	2.27E-4	3.49E-4	ENSG00000171798	ENST00000304613;ENST00000368572;ENST00000368571	T;T;T	0.32272	1.46;1.46;1.46	4.63	-5.31	0.02730	KIND (2);	0.976965	0.08346	N	0.960109	T	0.13415	0.0325	N	0.15975	0.35	0.09310	N	1	B;B	0.17465	0.022;0.005	B;B	0.09377	0.004;0.002	T	0.28138	-1.0053	10	0.27082	T	0.32	-20.5636	5.616	0.17432	0.5361:0.0:0.2633:0.2006	.	478;543	Q76NI1-2;Q76NI1	.;VKIND_HUMAN	I	543;543;478	ENSP00000304437:V543I;ENSP00000357561:V543I;ENSP00000357560:V478I	ENSP00000304437:V543I	V	+	1	0	KNDC1	134859208	0.000000	0.05858	0.002000	0.10522	0.026000	0.11368	-0.398000	0.07259	-0.658000	0.05366	-0.692000	0.03713	GTC		0.687	KNDC1-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000277044.3	NM_152643		4	16	0	0	0	1	0	4	16					A	135009218	G	A	135009218	3	1	256	1	0	0	0	0	1	0	0	0	8426	1145	40	1	1665	1	KNDC1	10	135009218	Missense_Mutation	SNP	G	TCGA-HC-A9TE-01A-11D-A41K-08	129512191	135009218	525529	31	11989											
PKP3	11187	broad.mit.edu	37	chr11	396954	396954	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gccgctgggtacgggggtgcCcagcccacccctcccatgcc	4	5	13	19	2	0	0	0	0	0	0	1	0	1	0	7	3	4	2	7	3	1	1			TCGA-HC-A9TE-01A-11D-A41K-08	TCGA-HC-A9TE-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8483a81-abcb-43d1-abea-e4c00743c928	8ee5606a-20d7-43a6-a199-d18c295e4b1d	g.chr11:396954C>G	ENST00000331563.2	+	3	529	c.453C>G	c.(451-453)gcC>gcG	p.A151A	PKP3_ENST00000530695.1_3'UTR	NM_007183.2	NP_009114.1	Q9Y446	PKP3_HUMAN	plakophilin 3	151					desmosome assembly (GO:0002159)|establishment of protein localization to plasma membrane (GO:0090002)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|desmosome (GO:0030057)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)			breast(1)|central_nervous_system(1)|endometrium(3)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11		all_cancers(49;3.02e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)		ACGGGGGTGCCCAGCCCACCC	0.706																																						ENST00000331563.2																			0				breast(1)|central_nervous_system(1)|endometrium(3)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						c.(451-453)gcC>gcG		plakophilin 3							10	12	12					11																	396954		2161	4261	6422	SO:0001819	synonymous_variant	11187				cell adhesion	desmosome|nucleus	binding	g.chr11:396954C>G	Z98265	CCDS7695.1	11p15	2013-02-14			ENSG00000184363	ENSG00000184363		"Armadillo repeat containing"	9025	protein-coding gene	gene with protein product		605561				10374265	Standard	XM_005252760		Approved		uc001lpc.3	Q9Y446	OTTHUMG00000119068	ENST00000331563.2:c.453C>G	11.37:g.396954C>G						PKP3_ENST00000530695.1_3'UTR	p.A151A	NM_007183.2	NP_009114.1	Q9Y446	PKP3_HUMAN		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)	3	529	+		all_cancers(49;3.02e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)	151					F8J390|Q53EX8	Silent	SNP	ENST00000331563.2	37	c.453C>G	CCDS7695.1																																																																																				0.706	PKP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239281.1	NM_007183		13	11	0	0	0	1	0	13	11					G	396954	C	G	396954	2	3	256	1	0	0	0	0	0	0	0	1	11986	610	22	5		5	PKP3	11	396954	Silent	SNP	C	TCGA-HC-A9TE-01A-11D-A41K-08		396954	134609562	32	11990											
OR4C16	219428	broad.mit.edu	37	chr11	55340437	55340437	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttttatacagttggaacatcTtttctcaaccctgtgattta	10	18	5	8	0	2	1	1	1	2	0	3	2	2	2	1	1	3	1	1	1	5	8			TCGA-HC-A9TE-01A-11D-A41K-08	TCGA-HC-A9TE-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8483a81-abcb-43d1-abea-e4c00743c928	8ee5606a-20d7-43a6-a199-d18c295e4b1d	g.chr11:55340437T>A	ENST00000314634.3	+	1	834	c.834T>A	c.(832-834)tcT>tcA	p.S278S		NM_001004701.2	NP_001004701.2	Q8NGL9	OR4CG_HUMAN	olfactory receptor, family 4, subfamily C, member 16 (gene/pseudogene)	278						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(28)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41		all_epithelial(135;0.0748)				TTGGAACATCTTTTCTCAACC	0.378																																						ENST00000314634.3																			0				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(28)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41						c.(832-834)tcT>tcA		olfactory receptor, family 4, subfamily C, member 16 (gene/pseudogene)							91	83	86					11																	55340437		2201	4296	6497	SO:0001819	synonymous_variant	219428				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55340437T>A	AB065773	CCDS31502.1	11q11	2013-10-10	2013-10-10		ENSG00000181935	ENSG00000181935		"GPCR / Class A : Olfactory receptors"	15172	protein-coding gene	gene with protein product			"olfactory receptor, family 4, subfamily C, member 16"				Standard	NM_001004701		Approved		uc010rih.2	Q8NGL9	OTTHUMG00000165198	ENST00000314634.3:c.834T>A	11.37:g.55340437T>A							p.S278S	NM_001004701.2	NP_001004701.2	Q8NGL9	OR4CG_HUMAN			1	834	+		all_epithelial(135;0.0748)	278					Q6IEV8	Silent	SNP	ENST00000314634.3	37	c.834T>A	CCDS31502.1																																																																																				0.378	OR4C16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382627.1	NM_001004701		10	65	0	0	0	1	0	10	65					A	55340437	T	A	55340437	2	1	256	1	0	0	0	0	0	0	0	1	11049	1596	56	5		5	OR4C16	11	55340437	Silent	SNP	T	TCGA-HC-A9TE-01A-11D-A41K-08	54943483	55340437	79666079	33	11991											
CHRDL2	25884	broad.mit.edu	37	chr11	74424521	74424521	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcggtaacaactcacatgggCgccctgaaggggacacaagg	12	4	14	11	2	1	1	1	1	0	0	1	2	1	2	1	5	2	1	1	5	4	1	rs200485801		TCGA-HC-A9TE-01A-11D-A41K-08	TCGA-HC-A9TE-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8483a81-abcb-43d1-abea-e4c00743c928	8ee5606a-20d7-43a6-a199-d18c295e4b1d	g.chr11:74424521C>T	ENST00000376332.3	-	3	695	c.199G>A	c.(199-201)Gcc>Acc	p.A67T	CHRDL2_ENST00000534159.1_5'UTR|CHRDL2_ENST00000263671.5_Missense_Mutation_p.A67T	NM_001278473.1	NP_001265402.1	Q6WN34	CRDL2_HUMAN	chordin-like 2	67	VWFC 1. {ECO:0000255|PROSITE- ProRule:PRU00220}.				cartilage development (GO:0051216)|cell differentiation (GO:0030154)|ossification (GO:0001503)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)				endometrium(1)|kidney(1)|large_intestine(6)|lung(4)|prostate(1)|skin(2)	15	Hepatocellular(1;0.098)					CTCACATGGGCGCCCTGAAGG	0.582																																						ENST00000376332.3																			0				endometrium(1)|kidney(1)|large_intestine(6)|lung(4)|prostate(1)|skin(2)	15						c.(199-201)Gcc>Acc		chordin-like 2		C	THR/ALA	0,4400		0,0,2200	89	81	84		199	3.2	1	11		84	2,8584	2.2+/-6.3	0,2,4291	yes	missense	CHRDL2	NM_015424.3	58	0,2,6491	TT,TC,CC		0.0233,0.0,0.0154	benign	67/452	74424521	2,12984	2200	4293	6493	SO:0001583	missense	25884				cartilage development|cell differentiation|ossification	extracellular region|mitochondrion		g.chr11:74424521C>T	AL110168	CCDS8234.1, CCDS60893.1	11q13.4	2013-09-20			ENSG00000054938	ENSG00000054938			24168	protein-coding gene	gene with protein product		613127				12853144, 12975309	Standard	NM_015424		Approved	BNF1	uc001ovh.3	Q6WN34	OTTHUMG00000165623	ENST00000376332.3:c.199G>A	11.37:g.74424521C>T	ENSP00000365510:p.Ala67Thr					CHRDL2_ENST00000534159.1_5'UTR|CHRDL2_ENST00000263671.5_Missense_Mutation_p.A67T	p.A67T	NM_001278473.1	NP_001265402.1	Q6WN34	CRDL2_HUMAN			3	695	-	Hepatocellular(1;0.098)		67			VWFC 1.		A5PKU9|Q6WN30|Q6WN31|Q6WN32|Q7Z5J3	Missense_Mutation	SNP	ENST00000376332.3	37	c.199G>A		.	.	.	.	.	.	.	.	.	.	C	16.20	3.055067	0.55325	0.0	2.33E-4	ENSG00000054938	ENST00000263671;ENST00000376332;ENST00000528789	T;T;T	0.72394	-0.65;-0.65;-0.65	5.12	3.18	0.36537	von Willebrand factor, type C (4);	0.220328	0.37053	N	0.002268	T	0.40297	0.1111	N	0.05124	-0.11	0.26526	N	0.97434	B;B;P	0.35780	0.094;0.262;0.52	B;B;B	0.29785	0.025;0.107;0.079	T	0.30504	-0.9976	10	0.12103	T	0.63	-9.9366	8.2585	0.31771	0.0:0.7501:0.1614:0.0885	.	67;67;67	E9PCG7;Q6WN34;Q6WN34-2	.;CRDL2_HUMAN;.	T	67	ENSP00000263671:A67T;ENSP00000365510:A67T;ENSP00000431380:A67T	ENSP00000263671:A67T	A	-	1	0	CHRDL2	74102169	0.901000	0.30685	0.980000	0.43619	0.900000	0.52787	1.653000	0.37323	1.254000	0.44035	0.563000	0.77884	GCC		0.582	CHRDL2-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000385391.1			5	34	0	0	0	1	0	5	34					T	74424521	C	T	74424521	3	4	256	1	0	0	0	0	1	0	0	0	3374	768	27	1	1196	1	CHRDL2	11	74424521	Missense_Mutation	SNP	C	TCGA-HC-A9TE-01A-11D-A41K-08	19084084	74424521	60581995	34	11992											
MMP19	4327	broad.mit.edu	37	chr12	56231394	56231394	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agagagctgcatccaggttaGgttctaccctattcagcttc	9	12	9	11	0	2	1	1	0	1	1	4	2	3	1	2	2	4	5	2	2	3	6			TCGA-HC-A9TE-01A-11D-A41K-08	TCGA-HC-A9TE-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8483a81-abcb-43d1-abea-e4c00743c928	8ee5606a-20d7-43a6-a199-d18c295e4b1d	g.chr12:56231394G>C	ENST00000322569.4	-	8	1224	c.1133C>G	c.(1132-1134)cCt>cGt	p.P378R	MMP19_ENST00000548629.1_Missense_Mutation_p.P355R|MMP19_ENST00000409200.3_Intron|TMEM198B_ENST00000478241.1_RNA|MMP19_ENST00000394182.1_Missense_Mutation_p.P92R	NM_002429.4	NP_002420.1	Q99542	MMP19_HUMAN	matrix metallopeptidase 19	378					angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|luteolysis (GO:0001554)|ovarian follicle development (GO:0001541)|ovulation from ovarian follicle (GO:0001542)|proteolysis (GO:0006508)|response to cAMP (GO:0051591)|response to hormone (GO:0009725)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(2)|skin(2)	26					Marimastat(DB00786)	ATCCAGGTTAGGTTCTACCCT	0.463																																						ENST00000394182.1																			0				endometrium(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(2)|skin(2)	26						c.(274-276)cCt>cGt		matrix metallopeptidase 19							111	112	112					12																	56231394		2203	4300	6503	SO:0001583	missense	4327				angiogenesis|cell differentiation|collagen catabolic process|proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding	g.chr12:56231394G>C	X92521	CCDS8895.1, CCDS61146.1	12q14	2005-08-08	2005-08-08			ENSG00000123342			7165	protein-coding gene	gene with protein product		601807	"matrix metalloproteinase 19"	MMP18		9232430	Standard	NM_002429		Approved	RASI-1	uc001sib.4	Q99542	OTTHUMG00000170216	ENST00000322569.4:c.1133C>G	12.37:g.56231394G>C	ENSP00000313437:p.Pro378Arg					MMP19_ENST00000322569.4_Missense_Mutation_p.P378R|MMP19_ENST00000548629.1_Missense_Mutation_p.P355R|MMP19_ENST00000409200.3_Intron	p.P92R			Q99542	MMP19_HUMAN			3	274	-			378					B4E030|O15278|O95606|Q99580	Missense_Mutation	SNP	ENST00000322569.4	37	c.275C>G	CCDS8895.1	.	.	.	.	.	.	.	.	.	.	G	13.47	2.248050	0.39697	.	.	ENSG00000123342	ENST00000394182;ENST00000322569;ENST00000548629	T;T;T	0.07216	3.21;3.21;3.21	5.68	4.78	0.61160	Hemopexin/matrixin (2);	0.182760	0.47455	D	0.000225	T	0.10852	0.0265	L	0.37850	1.14	0.47094	D	0.999318	P;B	0.44776	0.843;0.274	P;B	0.47573	0.55;0.039	T	0.25916	-1.0118	10	0.16420	T	0.52	.	14.3264	0.66523	0.0:0.1497:0.8503:0.0	.	378;92	Q99542;Q99542-3	MMP19_HUMAN;.	R	92;378;355	ENSP00000377736:P92R;ENSP00000313437:P378R;ENSP00000446979:P355R	ENSP00000313437:P378R	P	-	2	0	MMP19	54517661	1.000000	0.71417	0.267000	0.24556	0.820000	0.46376	4.974000	0.63771	1.367000	0.46095	0.563000	0.77884	CCT		0.463	MMP19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408023.1	NM_002429		41	61	0	0	0	1	0	41	61					C	56231394	G	C	56231394	3	2	256	1	0	0	0	0	1	0	0	0	9657	1000	35	5	401	5	MMP19	12	56231394	Missense_Mutation	SNP	G	TCGA-HC-A9TE-01A-11D-A41K-08		56231394	77620501	35	11993											
EID3	493861	broad.mit.edu	37	chr12	104697887	104697887	+	Frame_Shift_Del	DEL	G	G	-																															ggcagaaccgggaggacatcGtgagctcggcgaacaactcc																										TCGA-HC-A9TE-01A-11D-A41K-08	TCGA-HC-A9TE-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8483a81-abcb-43d1-abea-e4c00743c928	8ee5606a-20d7-43a6-a199-d18c295e4b1d	g.chr12:104697887delG	ENST00000527879.1	+	1	371	c.175delG	c.(175-177)gtgfs	p.V59fs	TXNRD1_ENST00000526390.1_Intron|TXNRD1_ENST00000397736.2_Intron|TXNRD1_ENST00000526691.1_Intron|TXNRD1_ENST00000529546.1_Intron|TXNRD1_ENST00000503506.2_Intron|TXNRD1_ENST00000354940.6_Intron|TXNRD1_ENST00000525566.1_Intron|TXNRD1_ENST00000524698.1_Intron|TXNRD1_ENST00000378070.4_Intron|TXNRD1_ENST00000388854.3_Intron|TXNRD1_ENST00000542918.1_Intron|TXNRD1_ENST00000540716.1_Intron|TXNRD1_ENST00000429002.2_Intron	NM_001008394.2	NP_001008395.1			EP300 interacting inhibitor of differentiation 3											large_intestine(5)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	10						GGAGGACATCGTGAGCTCGGC	0.617																																						ENST00000527879.1																			0				large_intestine(5)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	10						c.(175-177)tgfs		EP300 interacting inhibitor of differentiation 3							47	53	51					12																	104697887		2065	4189	6254	SO:0001589	frameshift_variant	493861				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus		g.chr12:104697887delG	BC027612	CCDS53822.1	12q23.3	2006-11-24				ENSG00000255150			32961	protein-coding gene	gene with protein product		612986				15987788, 15752197	Standard	NM_001008394		Approved	FLJ25832, NSMCE4B, NSE4B	uc001tkw.3	Q8N140		ENST00000527879.1:c.175delG	12.37:g.104697887delG	ENSP00000435619:p.Val59fs					TXNRD1_ENST00000540716.1_Intron|TXNRD1_ENST00000529546.1_Intron|TXNRD1_ENST00000526691.1_Intron|TXNRD1_ENST00000526390.1_Intron|TXNRD1_ENST00000525566.1_Intron|TXNRD1_ENST00000524698.1_Intron|TXNRD1_ENST00000503506.2_Intron|TXNRD1_ENST00000429002.2_Intron|TXNRD1_ENST00000397736.2_Intron|TXNRD1_ENST00000388854.3_Intron|TXNRD1_ENST00000378070.4_Intron|TXNRD1_ENST00000542918.1_Intron|TXNRD1_ENST00000354940.6_Intron	p.V59fs	NM_001008394.2	NP_001008395.1	Q8N140	EID3_HUMAN			1	371	+			59						Frame_Shift_Del	DEL	ENST00000527879.1	37	c.175delG	CCDS53822.1																																																																																				0.617	EID3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387034.1	NM_001008394		12	52						12	52	---	---	---	---	-	104697887	G	-	104697887	7	5	256	1	0	1	0	1	0	0	0	0	4989	1145	40	0	177	0	EID3	12	104697887	Frame_Shift_Del	DEL	G	TCGA-HC-A9TE-01A-11D-A41K-08	48466493	104697887	29154008	36	11994											
ZC3H13	23091	broad.mit.edu	37	chr13	46541978	46541978	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gttgcgtggccaatctttatCagcatctcggtcccattctc	6	14	8	13	2	4	0	1	0	3	0	7	0	5	0	2	2	2	2	2	2	2	4			TCGA-HC-A9TE-01A-11D-A41K-08	TCGA-HC-A9TE-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8483a81-abcb-43d1-abea-e4c00743c928	8ee5606a-20d7-43a6-a199-d18c295e4b1d	g.chr13:46541978C>G	ENST00000242848.4	-	15	4330	c.3982G>C	c.(3982-3984)Gat>Cat	p.D1328H	ZC3H13_ENST00000378921.2_Missense_Mutation_p.D284H|ZC3H13_ENST00000282007.3_Missense_Mutation_p.D1328H			Q5T200	ZC3HD_HUMAN	zinc finger CCCH-type containing 13	1328							metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|lung(25)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	79		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;4.18e-05)		caatctttatcagcatctcgg	0.498																																					Esophageal Squamous(187;747 2077 11056 31291 44172)	ENST00000242848.4																			0				cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|lung(25)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	79						c.(3982-3984)Gat>Cat		zinc finger CCCH-type containing 13							317	211	247					13																	46541978		2203	4300	6503	SO:0001583	missense	23091						nucleic acid binding|zinc ion binding	g.chr13:46541978C>G	AB020660	CCDS9400.1	13q14.11	2012-07-05	2006-05-15	2006-05-15	ENSG00000123200	ENSG00000123200		"Zinc fingers, CCCH-type domain containing"	20368	protein-coding gene	gene with protein product			"KIAA0853"	KIAA0853		10048485	Standard	XM_005266301		Approved	DKFZp434D1812	uc001vas.1	Q5T200	OTTHUMG00000016863	ENST00000242848.4:c.3982G>C	13.37:g.46541978C>G	ENSP00000242848:p.Asp1328His					ZC3H13_ENST00000282007.3_Missense_Mutation_p.D1328H|ZC3H13_ENST00000378921.2_Missense_Mutation_p.D284H	p.D1328H			Q5T200	ZC3HD_HUMAN	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;4.18e-05)	15	4330	-		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	1328					A2A323|O94936|Q5T1Z9|Q7Z7J3|Q8NDT6|Q9H0L6	Missense_Mutation	SNP	ENST00000242848.4	37	c.3982G>C		.	.	.	.	.	.	.	.	.	.	C	13.84	2.357555	0.41801	.	.	ENSG00000123200	ENST00000242848;ENST00000378921;ENST00000282007	T;T;T	0.35789	2.29;1.9;1.29	5.28	5.28	0.74379	.	0.354396	0.23395	N	0.048643	T	0.41789	0.1174	L	0.43152	1.355	0.46028	D	0.998823	P;P	0.52842	0.927;0.956	B;P	0.47603	0.348;0.551	T	0.38090	-0.9677	10	0.66056	D	0.02	.	18.5206	0.90951	0.0:1.0:0.0:0.0	.	1328;1328	Q5T200;Q5T200-2	ZC3HD_HUMAN;.	H	1328;284;1328	ENSP00000242848:D1328H;ENSP00000368201:D284H;ENSP00000282007:D1328H	ENSP00000242848:D1328H	D	-	1	0	ZC3H13	45439979	1.000000	0.71417	0.535000	0.28026	0.346000	0.29079	6.325000	0.72901	2.461000	0.83175	0.591000	0.81541	GAT		0.498	ZC3H13-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000044789.1	NM_015070		5	50	0	0	0	1	0	5	50					G	46541978	C	G	46541978	3	3	256	1	0	0	0	0	1	0	0	0	17562	826	29	5	724	5	ZC3H13	13	46541978	Missense_Mutation	SNP	C	TCGA-HC-A9TE-01A-11D-A41K-08		46541978	68627900	37	11995											
TEP1	7011	broad.mit.edu	37	chr14	20847208	20847208	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtaagaaagagtgtatcatcGgagaggaacaaacaagcaga	19	5	12	5	1	1	4	1	0	0	4	2	6	1	5	0	2	3	3	0	2	6	2			TCGA-HC-A9TE-01A-11D-A41K-08	TCGA-HC-A9TE-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8483a81-abcb-43d1-abea-e4c00743c928	8ee5606a-20d7-43a6-a199-d18c295e4b1d	g.chr14:20847208G>A	ENST00000262715.5	-	36	5224	c.5184C>T	c.(5182-5184)tcC>tcT	p.S1728S	TEP1_ENST00000545983.1_Silent_p.S66S|TEP1_ENST00000556935.1_Silent_p.S1620S	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	1728					RNA-dependent DNA replication (GO:0006278)|telomere maintenance via recombination (GO:0000722)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|ribonucleoprotein complex (GO:0030529)|telomerase holoenzyme complex (GO:0005697)	ATP binding (GO:0005524)|RNA binding (GO:0003723)			NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		GTGTATCATCGGAGAGGAACA	0.557																																						ENST00000262715.5																			0				NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96						c.(5182-5184)tcC>tcT		telomerase-associated protein 1							111	101	105					14																	20847208		2203	4300	6503	SO:0001819	synonymous_variant	7011				telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding	g.chr14:20847208G>A		CCDS9548.1	14q11.2	2013-01-10			ENSG00000129566	ENSG00000129566		"WD repeat domain containing"	11726	protein-coding gene	gene with protein product	"TROVE domain family, member 1"	601686				9403057	Standard	NM_007110		Approved	TP1, TLP1, VAULT2, p240, TROVE1	uc001vxe.3	Q99973	OTTHUMG00000029515	ENST00000262715.5:c.5184C>T	14.37:g.20847208G>A						TEP1_ENST00000556935.1_Silent_p.S1620S|TEP1_ENST00000545983.1_Silent_p.S66S	p.S1728S	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)	36	5224	-	all_cancers(95;0.00123)	all_lung(585;0.235)	1728					A0AUV9	Silent	SNP	ENST00000262715.5	37	c.5184C>T	CCDS9548.1																																																																																				0.557	TEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073563.2	NM_007110		13	33	0	0	0	1	0	13	33					A	20847208	G	A	20847208	2	1	256	1	0	0	0	0	0	0	0	1	15756	1103	39	2		2	TEP1	14	20847208	Silent	SNP	G	TCGA-HC-A9TE-01A-11D-A41K-08		20847208	86502332	38	11996											
CYFIP1	23191	broad.mit.edu	37	chr15	22929856	22929856	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctggacgagctgaagaacaTgaagtgcagtgtgaagaacg	14	6	15	6	2	0	5	0	3	0	2	0	7	0	6	0	1	4	3	0	1	5	0			TCGA-HC-A9TE-01A-11D-A41K-08	TCGA-HC-A9TE-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8483a81-abcb-43d1-abea-e4c00743c928	8ee5606a-20d7-43a6-a199-d18c295e4b1d	g.chr15:22929856T>C	ENST00000313077.7	+	6	655	c.530T>C	c.(529-531)aTg>aCg	p.M177T	CYFIP1_ENST00000560848.1_Missense_Mutation_p.M177T	NM_014608.2	NP_055423.1			cytoplasmic FMR1 interacting protein 1											endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(1)|lung(14)|ovary(4)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	40		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;2.22e-06)|Epithelial(43;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00101)		CTGAAGAACATGAAGTGCAGT	0.577																																						ENST00000313077.7																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(1)|lung(14)|ovary(4)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	40						c.(529-531)aTg>aCg		cytoplasmic FMR1 interacting protein 1							133	100	111					15																	22929856		2203	4300	6503	SO:0001583	missense	23191				axon extension|lamellipodium assembly|regulation of cell shape|ruffle organization	cell junction|lamellipodium|mRNA cap binding complex|perinuclear region of cytoplasm|ruffle|synapse|synaptosome	actin filament binding|Rac GTPase binding	g.chr15:22929856T>C	D38549	CCDS73695.1, CCDS73696.1	15q11	2008-07-18			ENSG00000068793	ENSG00000273749			13759	protein-coding gene	gene with protein product	"selective hybridizing clone", "cytoplasmic FMRP interacting protein 1"	606322				11438699	Standard	XM_005272543		Approved	KIAA0068, P140SRA-1, SHYC	uc001yus.3	Q7L576	OTTHUMG00000129100	ENST00000313077.7:c.530T>C	15.37:g.22929856T>C	ENSP00000324549:p.Met177Thr					CYFIP1_ENST00000560848.1_Missense_Mutation_p.M177T	p.M177T	NM_014608.2	NP_055423.1	Q7L576	CYFP1_HUMAN		all cancers(64;2.22e-06)|Epithelial(43;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00101)	6	655	+		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)	177						Missense_Mutation	SNP	ENST00000313077.7	37	c.530T>C	CCDS10009.1	.	.	.	.	.	.	.	.	.	.	T	17.52	3.410545	0.62399	.	.	ENSG00000068793	ENST00000313077;ENST00000412127	T	0.42513	0.97	4.92	4.92	0.64577	.	0.000000	0.85682	D	0.000000	T	0.58323	0.2114	M	0.74546	2.27	0.80722	D	1	P;B	0.45827	0.867;0.015	P;B	0.55112	0.769;0.036	T	0.58994	-0.7537	10	0.37606	T	0.19	-36.1377	14.8487	0.70281	0.0:0.0:0.0:1.0	.	205;177	E7EQ04;Q7L576	.;CYFP1_HUMAN	T	177;205	ENSP00000324549:M177T	ENSP00000324549:M177T	M	+	2	0	CYFIP1	20481297	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	7.873000	0.87193	1.974000	0.57490	0.459000	0.35465	ATG		0.577	CYFIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251136.2	NM_014608		7	44	0	0	0	1	0	7	44					C	22929856	T	C	22929856	3	2	256	1	0	0	0	0	1	0	0	0	4137	1464	51	4	548	4	CYFIP1	15	22929856	Missense_Mutation	SNP	T	TCGA-HC-A9TE-01A-11D-A41K-08		22929856	79601536	39	11997											
TRIM69	140691	broad.mit.edu	37	chr15	45059579	45059579	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgtggctgtactgggctcaaGaggcttcacctctggaaagt	8	11	13	9	0	3	1	2	0	1	1	3	2	3	2	1	4	1	4	1	4	3	2	rs202081848		TCGA-HC-A9TE-01A-11D-A41K-08	TCGA-HC-A9TE-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8483a81-abcb-43d1-abea-e4c00743c928	8ee5606a-20d7-43a6-a199-d18c295e4b1d	g.chr15:45059579G>A	ENST00000559390.1	+	8	2040	c.1112G>A	c.(1111-1113)aGa>aAa	p.R371K	TRIM69_ENST00000329464.4_Missense_Mutation_p.R371K|TRIM69_ENST00000560442.1_Missense_Mutation_p.R167K|TRIM69_ENST00000338264.4_Missense_Mutation_p.R212K|TRIM69_ENST00000558329.1_Missense_Mutation_p.R150K|TRIM69_ENST00000558173.1_Missense_Mutation_p.R167K|TRIM69_ENST00000561043.1_Missense_Mutation_p.R134K			Q86WT6	TRI69_HUMAN	tripartite motif containing 69	371	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				apoptotic process (GO:0006915)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(9)|skin(1)	20		all_cancers(109;2.47e-13)|all_epithelial(112;2.84e-11)|Lung NSC(122;2.23e-07)|all_lung(180;1.81e-06)|Melanoma(134;0.0122)		all cancers(107;5.5e-19)|GBM - Glioblastoma multiforme(94;1.07e-06)|Colorectal(105;0.138)|COAD - Colon adenocarcinoma(120;0.141)		CTGGGCTCAAGAGGCTTCACC	0.478													G|||	1	0.000199681	0	0	5008	,	,		19813	0		0.001	False		,,,				2504	0				Pancreas(84;519 1450 1802 20427 34706)	ENST00000558173.1																			0				cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(9)|skin(1)	20						c.(499-501)aGa>aAa		tripartite motif containing 69							130	133	132					15																	45059579		2198	4298	6496	SO:0001583	missense	0				apoptosis	nuclear speck	zinc ion binding	g.chr15:45059579G>A	AF302088	CCDS10114.1, CCDS32220.1, CCDS73719.1	15q15-q21	2013-01-09	2011-01-25	2006-09-26	ENSG00000185880	ENSG00000185880		"RING-type (C3HC4) zinc fingers", "Tripartite motif containing / Tripartite motif containing"	17857	protein-coding gene	gene with protein product			"ring finger protein 36", "tripartite motif-containing 69"	RNF36			Standard	XM_005254162		Approved	Trif, TRIMLESS	uc001zug.1	Q86WT6	OTTHUMG00000131246	ENST00000559390.1:c.1112G>A	15.37:g.45059579G>A	ENSP00000453177:p.Arg371Lys					TRIM69_ENST00000558329.1_Missense_Mutation_p.R150K|TRIM69_ENST00000561043.1_Missense_Mutation_p.R134K|TRIM69_ENST00000329464.4_Missense_Mutation_p.R371K|TRIM69_ENST00000560442.1_Missense_Mutation_p.R167K|TRIM69_ENST00000338264.4_Missense_Mutation_p.R212K|TRIM69_ENST00000559390.1_Missense_Mutation_p.R371K	p.R167K			Q86WT6	TRI69_HUMAN		all cancers(107;5.5e-19)|GBM - Glioblastoma multiforme(94;1.07e-06)|Colorectal(105;0.138)|COAD - Colon adenocarcinoma(120;0.141)	5	5245	+		all_cancers(109;2.47e-13)|all_epithelial(112;2.84e-11)|Lung NSC(122;2.23e-07)|all_lung(180;1.81e-06)|Melanoma(134;0.0122)	371					A8MX03|Q309B0|Q4G1A5|Q6W897|Q8IYY3|Q8WY16|Q8WY17	Missense_Mutation	SNP	ENST00000559390.1	37	c.500G>A	CCDS32220.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	11.64	1.700285	0.30142	.	.	ENSG00000185880	ENST00000329464;ENST00000338264	T;T	0.09911	2.93;2.93	5.5	4.39	0.52855	Concanavalin A-like lectin/glucanase (1);SPRY-associated (1);Butyrophylin-like (1);B30.2/SPRY domain (1);	0.174648	0.39909	N	0.001229	T	0.05777	0.0151	N	0.11892	0.195	0.26856	N	0.968061	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.38200	-0.9672	10	0.19147	T	0.46	.	8.9844	0.35986	0.9098:0.0:0.0902:0.0	.	150;212;371	Q86WT6-4;Q86WT6-2;Q86WT6	.;.;TRI69_HUMAN	K	371;212	ENSP00000332284:R371K;ENSP00000342922:R212K	ENSP00000332284:R371K	R	+	2	0	TRIM69	42846871	0.879000	0.30193	0.996000	0.52242	0.746000	0.42486	2.954000	0.49113	0.934000	0.37316	-0.312000	0.09012	AGA		0.478	TRIM69-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416171.1			15	83	0	0	0	1	0	15	83					A	45059579	G	A	45059579	3	1	256	1	0	0	0	0	1	0	0	0	16539	942	33	3	1138	3	TRIM69	15	45059579	Missense_Mutation	SNP	G	TCGA-HC-A9TE-01A-11D-A41K-08	22129723	45059579	57471813	40	11998											
CCNB2	9133	broad.mit.edu	37	chr15	59406974	59406974	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gagatataaatggacgcatgCgtgccatcctagtggattgg	11	10	13	7	2	0	1	0	0	0	1	1	4	1	3	2	3	2	1	2	3	4	4			TCGA-HC-A9TE-01A-11D-A41K-08	TCGA-HC-A9TE-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8483a81-abcb-43d1-abea-e4c00743c928	8ee5606a-20d7-43a6-a199-d18c295e4b1d	g.chr15:59406974C>T	ENST00000288207.2	+	5	687	c.496C>T	c.(496-498)Cgt>Tgt	p.R166C	CCNB2_ENST00000559622.1_Missense_Mutation_p.R85C	NM_004701.3	NP_004692.1	O95067	CCNB2_HUMAN	cyclin B2	166					G2/M transition of mitotic cell cycle (GO:0000086)|growth (GO:0040007)|in utero embryonic development (GO:0001701)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope disassembly (GO:0007077)|regulation of cell cycle (GO:0051726)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|T cell homeostasis (GO:0043029)|thymus development (GO:0048538)	centrosome (GO:0005813)|cytosol (GO:0005829)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|nucleoplasm (GO:0005654)				kidney(4)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	9						TGGACGCATGCGTGCCATCCT	0.428																																						ENST00000288207.2																			0				kidney(4)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	9						c.(496-498)Cgt>Tgt		cyclin B2							189	177	181					15																	59406974		2191	4291	6482	SO:0001583	missense	9133				cell cycle checkpoint|cell division|G2/M transition of mitotic cell cycle|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of G2/M transition of mitotic cell cycle	centrosome|cytosol|nucleus	protein kinase binding	g.chr15:59406974C>T	AF002822	CCDS10170.1	15q21.3	2004-01-19			ENSG00000157456	ENSG00000157456			1580	protein-coding gene	gene with protein product		602755					Standard	NM_004701		Approved	HsT17299	uc002afz.3	O95067	OTTHUMG00000132715	ENST00000288207.2:c.496C>T	15.37:g.59406974C>T	ENSP00000288207:p.Arg166Cys					CCNB2_ENST00000559622.1_Missense_Mutation_p.R85C	p.R166C	NM_004701.3	NP_004692.1	O95067	CCNB2_HUMAN			5	687	+			166					B3KM93|Q6FI99	Missense_Mutation	SNP	ENST00000288207.2	37	c.496C>T	CCDS10170.1	.	.	.	.	.	.	.	.	.	.	C	24.3	4.513207	0.85389	.	.	ENSG00000157456	ENST00000288207	T	0.54866	0.55	5.72	4.8	0.61643	Cyclin, N-terminal (2);Cyclin-like (2);	0.051968	0.85682	D	0.000000	D	0.84356	0.5454	H	0.99650	4.68	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.90366	0.4377	10	0.87932	D	0	.	13.0284	0.58829	0.2928:0.7072:0.0:0.0	.	166;166	Q53HG9;O95067	.;CCNB2_HUMAN	C	166	ENSP00000288207:R166C	ENSP00000288207:R166C	R	+	1	0	CCNB2	57194266	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.009000	0.49552	1.406000	0.46857	0.655000	0.94253	CGT		0.428	CCNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256016.1	NM_004701		36	75	0	0	0	1	0	36	75					T	59406974	C	T	59406974	3	4	256	1	0	0	0	0	1	0	0	0	2913	768	27	1	514	1	CCNB2	15	59406974	Missense_Mutation	SNP	C	TCGA-HC-A9TE-01A-11D-A41K-08	14347395	59406974	43124418	41	11999											
AP3B2	8120	broad.mit.edu	37	chr15	83350235	83350235	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	agggtgacatgtccgaggcgGcttccttgatagctagcatc	8	10	13	10	2	0	2	0	2	0	0	3	3	2	2	2	3	2	3	2	3	2	4			TCGA-HC-A9TE-01A-11D-A41K-08	TCGA-HC-A9TE-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8483a81-abcb-43d1-abea-e4c00743c928	8ee5606a-20d7-43a6-a199-d18c295e4b1d	g.chr15:83350235G>A	ENST00000261722.3	-	5	665	c.458C>T	c.(457-459)gCc>gTc	p.A153V	RP11-752G15.3_ENST00000560650.1_RNA|AP3B2_ENST00000535359.1_Missense_Mutation_p.A153V|AP3B2_ENST00000535348.1_Missense_Mutation_p.A121V	NM_004644.3	NP_004635.2	Q13367	AP3B2_HUMAN	adaptor-related protein complex 3, beta 2 subunit	153					anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|intracellular protein transport (GO:0006886)|post-Golgi vesicle-mediated transport (GO:0006892)	AP-3 adaptor complex (GO:0030123)|COPI-coated vesicle (GO:0030137)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	transporter activity (GO:0005215)			breast(4)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(2)	41			BRCA - Breast invasive adenocarcinoma(143;0.229)			GTCCGAGGCGGCTTCCTTGAT	0.582																																						ENST00000261722.3																			0				breast(4)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(2)	41						c.(457-459)gCc>gTc		adaptor-related protein complex 3, beta 2 subunit							109	111	111					15																	83350235		2084	4211	6295	SO:0001583	missense	8120				endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport	clathrin coated vesicle membrane|COPI-coated vesicle|membrane coat	binding|protein transporter activity	g.chr15:83350235G>A	U37673	CCDS45331.1, CCDS61736.1, CCDS61737.1	15q	2008-07-07			ENSG00000103723	ENSG00000103723			567	protein-coding gene	gene with protein product		602166				7671305, 1851215	Standard	NM_004644		Approved	NAPTB	uc010uoh.2	Q13367	OTTHUMG00000168009	ENST00000261722.3:c.458C>T	15.37:g.83350235G>A	ENSP00000261722:p.Ala153Val					AP3B2_ENST00000535359.1_Missense_Mutation_p.A153V|RP11-752G15.3_ENST00000560650.1_RNA|AP3B2_ENST00000535348.1_Missense_Mutation_p.A121V	p.A153V	NM_004644.3	NP_004635.2	Q13367	AP3B2_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.229)		5	665	-			153					A4Z4T7|B7ZKR7|B7ZKS0|O14808|Q52LY8	Missense_Mutation	SNP	ENST00000261722.3	37	c.458C>T	CCDS45331.1	.	.	.	.	.	.	.	.	.	.	G	36	5.774663	0.96922	.	.	ENSG00000103723	ENST00000261722;ENST00000535348;ENST00000535359;ENST00000541693	T;T;T;T	0.26957	1.7;1.7;1.7;1.7	5.09	5.09	0.68999	Clathrin/coatomer adaptor, adaptin-like, N-terminal (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.055634	0.64402	D	0.000001	T	0.48429	0.1499	L	0.53249	1.67	0.80722	D	1	D;D;P	0.76494	0.999;0.97;0.88	D;P;P	0.83275	0.996;0.868;0.826	T	0.40098	-0.9581	10	0.52906	T	0.07	-10.025	18.6878	0.91571	0.0:0.0:1.0:0.0	.	121;153;153	B7ZKR7;B7ZKS0;Q13367	.;.;AP3B2_HUMAN	V	153;121;153;109	ENSP00000261722:A153V;ENSP00000438721:A121V;ENSP00000440984:A153V;ENSP00000441961:A109V	ENSP00000261722:A153V	A	-	2	0	AP3B2	81147289	1.000000	0.71417	0.983000	0.44433	0.964000	0.63967	9.626000	0.98410	2.642000	0.89623	0.563000	0.77884	GCC		0.582	AP3B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397463.1			3	38	0	0	0	1	0	3	38					A	83350235	G	A	83350235	3	1	256	1	0	0	0	0	1	0	0	0	745	1203	42	3	2802	3	AP3B2	15	83350235	Missense_Mutation	SNP	G	TCGA-HC-A9TE-01A-11D-A41K-08	23943261	83350235	19181157	42	12000											
NDUFB10	4716	broad.mit.edu	37	chr16	2011190	2011190	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gcacgcaaagaacaggtattActactaccaccggcagtacc	14	6	8	13	2	0	1	0	0	0	1	0	1	0	1	3	2	5	5	3	2	7	5			TCGA-HC-A9TE-01A-11D-A41K-08	TCGA-HC-A9TE-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8483a81-abcb-43d1-abea-e4c00743c928	8ee5606a-20d7-43a6-a199-d18c295e4b1d	g.chr16:2011190A>G	ENST00000268668.6	+	2	284	c.167A>G	c.(166-168)tAc>tGc	p.Y56C	NDUFB10_ENST00000569148.1_Missense_Mutation_p.Y56C|SNORA64_ENST00000384674.1_RNA|SNORA10_ENST00000384084.1_RNA|NDUFB10_ENST00000543683.2_Missense_Mutation_p.Y56C	NM_004548.2	NP_004539.1	O96000	NDUBA_HUMAN	NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 10, 22kDa	56					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)			lung(1)|urinary_tract(1)	2						AACAGGTATTACTACTACCAC	0.493																																						ENST00000543683.2																			0				lung(1)|urinary_tract(1)	2						c.(166-168)tAc>tGc		NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 10, 22kDa	NADH(DB00157)						105	85	92					16																	2011190		2199	4300	6499	SO:0001583	missense	4716				mitochondrial electron transport, NADH to ubiquinone|transport	mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity|protein binding	g.chr16:2011190A>G	AF044954	CCDS10451.1	16p13.3	2011-07-04	2002-08-29		ENSG00000140990	ENSG00000140990		"Mitochondrial respiratory chain complex / Complex I"	7696	protein-coding gene	gene with protein product	"complex I PDSW subunit"	603843	"NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 10 (22kD, PDSW)"			9763677, 9878551	Standard	NM_004548		Approved	PDSW	uc002cni.2	O96000	OTTHUMG00000128709	ENST00000268668.6:c.167A>G	16.37:g.2011190A>G	ENSP00000268668:p.Tyr56Cys					NDUFB10_ENST00000268668.6_Missense_Mutation_p.Y56C|NDUFB10_ENST00000569148.1_Missense_Mutation_p.Y56C	p.Y56C			O96000	NDUBA_HUMAN			2	249	+			56					Q96II6	Missense_Mutation	SNP	ENST00000268668.6	37	c.167A>G	CCDS10451.1	.	.	.	.	.	.	.	.	.	.	A	15.35	2.806649	0.50421	.	.	ENSG00000140990	ENST00000268668;ENST00000543683	.	.	.	4.81	4.81	0.61882	.	0.123944	0.56097	D	0.000036	T	0.76292	0.3967	M	0.72894	2.215	0.58432	D	0.999997	D;D	0.89917	1.0;0.999	D;D	0.77004	0.989;0.962	T	0.76305	-0.3008	9	0.38643	T	0.18	-14.5303	13.5721	0.61853	1.0:0.0:0.0:0.0	.	56;56	Q96II6;O96000	.;NDUBA_HUMAN	C	56	.	ENSP00000268668:Y56C	Y	+	2	0	NDUFB10	1951191	1.000000	0.71417	0.933000	0.37362	0.716000	0.41182	6.289000	0.72696	1.800000	0.52685	0.460000	0.39030	TAC		0.493	NDUFB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250614.2	NM_004548		20	36	0	0	0	1	0	20	36					G	2011190	A	G	2011190	3	3	256	1	0	0	0	0	1	0	0	0	10279	391	14	4	173	4	NDUFB10	16	2011190	Missense_Mutation	SNP	A	TCGA-HC-A9TE-01A-11D-A41K-08		2011190	88343563	43	12001											
LOC81691	81691	broad.mit.edu	37	chr16	20838480	20838480	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcctcctgatgctgtgttaGtgggccactccttagatttg	5	16	10	10	0	0	2	0	1	0	1	3	2	3	2	4	1	1	2	4	1	2	4			TCGA-HC-A9TE-01A-11D-A41K-08	TCGA-HC-A9TE-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8483a81-abcb-43d1-abea-e4c00743c928	8ee5606a-20d7-43a6-a199-d18c295e4b1d	g.chr16:20838480G>C	ENST00000261377.6	+	9	1131	c.922G>C	c.(922-924)Gtg>Ctg	p.V308L	AC004381.6_ENST00000564274.1_Missense_Mutation_p.V308L|AC004381.6_ENST00000348433.6_Missense_Mutation_p.V308L|ERI2_ENST00000564349.1_Intron	NM_001199053.1|NM_030941.2	NP_001185982.1|NP_112203.2																					TGCTGTGTTAGTGGGCCACTC	0.413																																						ENST00000261377.6																			0											c.(922-924)Gtg>Ctg									135	125	129					16																	20838480		2201	4300	6501	SO:0001583	missense	0							g.chr16:20838480G>C																												ENST00000261377.6:c.922G>C	16.37:g.20838480G>C	ENSP00000261377:p.Val308Leu					AC004381.6_ENST00000564274.1_Missense_Mutation_p.V308L|ERI2_ENST00000564349.1_Intron|AC004381.6_ENST00000348433.6_Missense_Mutation_p.V308L	p.V308L	NM_001199053.1|NM_030941.2	NP_001185982.1|NP_112203.2					9	1131	+									Missense_Mutation	SNP	ENST00000261377.6	37	c.922G>C	CCDS10591.1	.	.	.	.	.	.	.	.	.	.	G	24.9	4.586897	0.86851	.	.	ENSG00000005189	ENST00000348433;ENST00000261377	T;T	0.40476	1.03;1.03	4.99	4.99	0.66335	Exonuclease (1);Exonuclease, RNase T/DNA polymerase III (1);Ribonuclease H-like (1);	0.000000	0.85682	D	0.000000	T	0.67239	0.2872	M	0.81682	2.555	0.58432	D	0.999998	D;D	0.89917	1.0;0.995	D;D	0.87578	0.998;0.981	T	0.71787	-0.4487	10	0.59425	D	0.04	-12.7812	17.038	0.86481	0.0:0.0:1.0:0.0	.	308;308	Q96IC2-2;Q96IC2	.;REXON_HUMAN	L	308	ENSP00000261378:V308L;ENSP00000261377:V308L	ENSP00000261377:V308L	V	+	1	0	AC004381.6	20745981	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	7.233000	0.78125	2.305000	0.77605	0.561000	0.74099	GTG		0.413	AC004381.6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254418.2			4	109	0	0	0	1	0	4	109					C	20838480	G	C	20838480	3	2	256	1	0	0	0	0	1	0	0	0	8890	1029	36	5	952	5	LOC81691	16	20838480	Missense_Mutation	SNP	G	TCGA-HC-A9TE-01A-11D-A41K-08	18827290	20838480	69516273	44	12002											
GALNS	2588	broad.mit.edu	37	chr16	88901690	88901690	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacgaaggtgttgtccgcgaCgtgcaggtcttggaggagct	7	9	17	8	4	1	0	0	0	1	0	2	5	2	2	1	4	2	3	1	4	1	2			TCGA-HC-A9TE-01A-11D-A41K-08	TCGA-HC-A9TE-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8483a81-abcb-43d1-abea-e4c00743c928	8ee5606a-20d7-43a6-a199-d18c295e4b1d	g.chr16:88901690C>T	ENST00000268695.5	-	8	917	c.829G>A	c.(829-831)Gtc>Atc	p.V277I	GALNS_ENST00000542788.1_Missense_Mutation_p.V202I	NM_000512.4	NP_000503.1	P34059	GALNS_HUMAN	galactosamine (N-acetyl)-6-sulfatase	277	Catalytic domain.				carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)	metal ion binding (GO:0046872)|N-acetylgalactosamine-4-sulfatase activity (GO:0003943)|N-acetylgalactosamine-6-sulfatase activity (GO:0043890)|sulfuric ester hydrolase activity (GO:0008484)			breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(8)	22				BRCA - Breast invasive adenocarcinoma(80;0.0496)		TTGTCCGCGACGTGCAGGTCT	0.567																																					GBM(129;1929 2344 25209 33204)	ENST00000268695.5																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(8)	22						c.(829-831)Gtc>Atc		galactosamine (N-acetyl)-6-sulfate sulfatase	Hyaluronidase(DB00070)						148	105	119					16																	88901690		2198	4300	6498	SO:0001583	missense	2588					lysosome	metal ion binding|N-acetylgalactosamine-4-sulfatase activity|N-acetylgalactosamine-6-sulfatase activity	g.chr16:88901690C>T	D17629	CCDS10970.1	16q24.3	2014-07-03	2014-07-03		ENSG00000141012	ENSG00000141012	3.1.6.4	"Arylsulfatase family"	4122	protein-coding gene	gene with protein product	"Morquio syndrome", "mucopolysaccharidosis type IVA"	612222	"galactosamine (N-acetyl)-6-sulfate sulfatase"			1755850	Standard	NM_000512		Approved	GAS, GALNAC6S	uc002fly.4	P34059	OTTHUMG00000137862	ENST00000268695.5:c.829G>A	16.37:g.88901690C>T	ENSP00000268695:p.Val277Ile					GALNS_ENST00000542788.1_Missense_Mutation_p.V202I	p.V277I	NM_000512.4	NP_000503.1	P34059	GALNS_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0496)	8	917	-			277					Q86VK3	Missense_Mutation	SNP	ENST00000268695.5	37	c.829G>A	CCDS10970.1	.	.	.	.	.	.	.	.	.	.	C	0.014	-1.605515	0.00842	.	.	ENSG00000141012	ENST00000268695;ENST00000542788	D;D	0.93366	-3.21;-3.21	5.14	1.35	0.21983	Alkaline phosphatase-like, alpha/beta/alpha (1);Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.142695	0.64402	N	0.000008	T	0.70228	0.3200	N	0.00408	-1.53	0.22591	N	0.998958	B;B	0.11235	0.002;0.004	B;B	0.08055	0.003;0.002	T	0.66484	-0.5912	10	0.06099	T	0.92	.	6.3738	0.21495	0.0:0.1437:0.1326:0.7237	.	277;277	B2R6P1;P34059	.;GALNS_HUMAN	I	277;202	ENSP00000268695:V277I;ENSP00000438197:V202I	ENSP00000268695:V277I	V	-	1	0	GALNS	87429191	0.591000	0.26824	0.002000	0.10522	0.000000	0.00434	0.851000	0.27751	-0.007000	0.14345	-1.669000	0.00746	GTC		0.567	GALNS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269543.1			10	22	0	0	0	1	0	10	22					T	88901690	C	T	88901690	3	4	256	1	0	0	0	0	1	0	0	0	6206	536	19	1	767	1	GALNS	16	88901690	Missense_Mutation	SNP	C	TCGA-HC-A9TE-01A-11D-A41K-08	68063210	88901690	1453063	45	12003											
TP53	7157	broad.mit.edu	37	chr17	7578485	7578485	+	Frame_Shift_Del	DEL	A	A	-																															ggtgccgggcgggggtgtggAatcaacccacagctgcacag																										TCGA-HC-A9TE-01A-11D-A41K-08	TCGA-HC-A9TE-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8483a81-abcb-43d1-abea-e4c00743c928	8ee5606a-20d7-43a6-a199-d18c295e4b1d	g.chr17:7578485delA	ENST00000269305.4	-	5	634	c.445delT	c.(445-447)tccfs	p.S149fs	TP53_ENST00000574684.1_5'Flank|TP53_ENST00000359597.4_Frame_Shift_Del_p.S149fs|TP53_ENST00000455263.2_Frame_Shift_Del_p.S149fs|TP53_ENST00000420246.2_Frame_Shift_Del_p.S149fs|TP53_ENST00000413465.2_Frame_Shift_Del_p.S149fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.S149fs	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	149	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		S -> F (in sporadic cancers; somatic mutation).|S -> P (in sporadic cancers; somatic mutation).|S -> T (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.0?(8)|p.S149fs*32(5)|p.S149P(4)|p.S149T(2)|p.D148_T155delDSTPPPGT(1)|p.Q144_G154del11(1)|p.W146_S149>C(1)|p.Q144fs*16(1)|p.S149fs*21(1)|p.D148fs*23(1)|p.S149fs*31(1)|p.S149fs*72(1)|p.S149fs*17(1)|p.V143_S149del(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GGGGGTGTGGAATCAACCCAC	0.602		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"Mis, N, F"	tumor protein p53			"L, E, M, O"		"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"	"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"		29	Whole gene deletion(8)|Deletion - Frameshift(6)|Substitution - Missense(6)|Insertion - Frameshift(5)|Deletion - In frame(3)|Complex - deletion inframe(1)	p.0?(8)|p.S149fs*32(5)|p.S149P(4)|p.S149T(2)|p.D148_T155delDSTPPPGT(1)|p.Q144_G154del11(1)|p.W146_S149>C(1)|p.Q144fs*16(1)|p.S149fs*21(1)|p.D148fs*23(1)|p.S149fs*31(1)|p.S149fs*72(1)|p.S149fs*17(1)|p.V143_S149del(1)	breast(5)|upper_aerodigestive_tract(4)|bone(4)|central_nervous_system(3)|lung(3)|haematopoietic_and_lymphoid_tissue(2)|ovary(2)|large_intestine(1)|stomach(1)|urinary_tract(1)|liver(1)|skin(1)|oesophagus(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185						c.(445-447)ccfs	Other conserved DNA damage response genes	tumor protein p53							57	57	57					17																	7578485		2203	4300	6503	SO:0001589	frameshift_variant	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578485delA	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"Li-Fraumeni syndrome"	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.445delT	17.37:g.7578485delA	ENSP00000269305:p.Ser149fs	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_ENST00000455263.2_Frame_Shift_Del_p.S149fs|TP53_ENST00000269305.4_Frame_Shift_Del_p.S149fs|TP53_ENST00000413465.2_Frame_Shift_Del_p.S149fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.S149fs|TP53_ENST00000359597.4_Frame_Shift_Del_p.S149fs	p.S149fs	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	5	577	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	149		S -> F (in sporadic cancers; somatic mutation).|S -> P (in sporadic cancers; somatic mutation).|S -> T (in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Frame_Shift_Del	DEL	ENST00000269305.4	37	c.445delT	CCDS11118.1																																																																																				0.602	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		28	12						28	12	---	---	---	---	-	7578485	A	-	7578485	7	5	256	1	0	1	0	1	0	0	0	0	16378	246	9	0	853	0	TP53	17	7578485	Frame_Shift_Del	DEL	A	TCGA-HC-A9TE-01A-11D-A41K-08		7578485	73616725	46	12004											
CHD3	1107	broad.mit.edu	37	chr17	7802839	7802839	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ggacaatgccatcaaaggggGcaagaaagcttttaagatga	16	7	12	6	0	1	3	1	1	0	2	1	4	1	4	1	3	2	2	1	3	5	2			TCGA-HC-A9TE-01A-11D-A41K-08	TCGA-HC-A9TE-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8483a81-abcb-43d1-abea-e4c00743c928	8ee5606a-20d7-43a6-a199-d18c295e4b1d	g.chr17:7802839G>T	ENST00000330494.7	+	15	2672	c.2522G>T	c.(2521-2523)gGc>gTc	p.G841V	CHD3_ENST00000358181.4_Missense_Mutation_p.G841V|CHD3_ENST00000380358.4_Missense_Mutation_p.G900V	NM_001005273.2	NP_001005273.1	Q12873	CHD3_HUMAN	chromodomain helicase DNA binding protein 3	841	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				centrosome organization (GO:0051297)|chromatin assembly or disassembly (GO:0006333)|chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|spindle organization (GO:0007051)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|nucleolus (GO:0005730)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65		Prostate(122;0.202)				ATCAAAGGGGGCAAGAAAGCT	0.463																																						ENST00000380358.4																			0				breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65						c.(2698-2700)gGc>gTc		chromodomain helicase DNA binding protein 3							91	90	91					17																	7802839		2203	4300	6503	SO:0001583	missense	1107				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|zinc ion binding	g.chr17:7802839G>T	U08379	CCDS32553.2, CCDS32554.1, CCDS32555.1	17p13	2013-01-28			ENSG00000170004	ENSG00000170004		"Zinc fingers, PHD-type"	1918	protein-coding gene	gene with protein product		602120				9326634, 7560064	Standard	NM_001005271		Approved	Mi-2a, ZFH, Mi2-ALPHA	uc002gjd.2	Q12873	OTTHUMG00000150427	ENST00000330494.7:c.2522G>T	17.37:g.7802839G>T	ENSP00000332628:p.Gly841Val					CHD3_ENST00000358181.4_Missense_Mutation_p.G841V|CHD3_ENST00000330494.7_Missense_Mutation_p.G841V	p.G900V	NM_001005271.2	NP_001005271.2	Q12873	CHD3_HUMAN			15	2700	+		Prostate(122;0.202)	841			Helicase ATP-binding.		D3DTQ9|E9PG89|Q9Y4I0	Missense_Mutation	SNP	ENST00000330494.7	37	c.2699G>T	CCDS32554.1	.	.	.	.	.	.	.	.	.	.	G	16.51	3.142773	0.57044	.	.	ENSG00000170004	ENST00000380358;ENST00000358181;ENST00000330494	D;D;D	0.93547	-3.24;-3.24;-3.24	5.1	5.1	0.69264	DEAD-like helicase (2);SNF2-related (1);	0.000000	0.47093	D	0.000241	D	0.97071	0.9043	M	0.85542	2.76	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.97373	0.9977	10	0.87932	D	0	-20.6111	19.0554	0.93062	0.0:0.0:1.0:0.0	.	841;841;900	Q12873-2;Q12873;E9PG89	.;CHD3_HUMAN;.	V	900;841;841	ENSP00000369716:G900V;ENSP00000350907:G841V;ENSP00000332628:G841V	ENSP00000332628:G841V	G	+	2	0	CHD3	7743564	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.657000	0.98554	2.813000	0.96785	0.561000	0.74099	GGC		0.463	CHD3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318050.1	NM_001005273		15	66	1	0	2.32078e-09	1	2.48855e-09	15	66					T	7802839	G	T	7802839	3	4	256	1	0	0	0	0	1	0	0	0	3326	1203	42	5	2861	5	CHD3	17	7802839	Missense_Mutation	SNP	G	TCGA-HC-A9TE-01A-11D-A41K-08	224354	7802839	73392371	47	12005											
ARHGEF15	22899	broad.mit.edu	37	chr17	8216453	8216453	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctaccgctccactgctgagcGcaaactcctgccactcctca	8	8	6	19	2	1	1	1	1	0	0	4	1	4	1	5	0	5	3	5	0	2	1	rs113540851		TCGA-HC-A9TE-01A-11D-A41K-08	TCGA-HC-A9TE-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8483a81-abcb-43d1-abea-e4c00743c928	8ee5606a-20d7-43a6-a199-d18c295e4b1d	g.chr17:8216453G>A	ENST00000361926.3	+	3	925	c.815G>A	c.(814-816)cGc>cAc	p.R272H	ARHGEF15_ENST00000421050.1_Missense_Mutation_p.R272H	NM_173728.3	NP_776089.2	O94989	ARHGF_HUMAN	Rho guanine nucleotide exchange factor (GEF) 15	272					negative regulation of synapse maturation (GO:2000297)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of stress fiber assembly (GO:0051496)|regulation of catalytic activity (GO:0050790)|retina vasculature morphogenesis in camera-type eye (GO:0061299)	cytoplasm (GO:0005737)|dendrite (GO:0030425)	GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|endometrium(9)|large_intestine(5)|lung(11)|ovary(5)|prostate(3)|skin(2)|urinary_tract(1)	37						ACTGCTGAGCGCAAACTCCTG	0.632																																						ENST00000361926.3																			0				breast(1)|endometrium(9)|large_intestine(5)|lung(11)|ovary(5)|prostate(3)|skin(2)|urinary_tract(1)	37						c.(814-816)cGc>cAc		Rho guanine nucleotide exchange factor (GEF) 15							67	58	61					17																	8216453		2203	4300	6503	SO:0001583	missense	22899				negative regulation of synapse maturation|regulation of Rho protein signal transduction	dendrite|intracellular	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	g.chr17:8216453G>A	AB020722	CCDS11139.1	17p13.1	2011-11-16			ENSG00000198844	ENSG00000198844		"Rho guanine nucleotide exchange factors"	15590	protein-coding gene	gene with protein product	"Rho guanine exchange factor (GEF) 15"	608504				10048485	Standard	NM_173728		Approved	KIAA0915, Vsm-RhoGEF, ARGEF15, FLJ13791, MGC44868	uc002glc.3	O94989	OTTHUMG00000108187	ENST00000361926.3:c.815G>A	17.37:g.8216453G>A	ENSP00000355026:p.Arg272His					ARHGEF15_ENST00000421050.1_Missense_Mutation_p.R272H	p.R272H	NM_173728.3	NP_776089.2	O94989	ARHGF_HUMAN			3	925	+			272					A8K6G1|Q8N449|Q9H8B4	Missense_Mutation	SNP	ENST00000361926.3	37	c.815G>A	CCDS11139.1	.	.	.	.	.	.	.	.	.	.	G	9.042	0.989840	0.18966	.	.	ENSG00000198844	ENST00000361926;ENST00000421050	T;T	0.50277	0.75;0.75	5.13	0.498	0.16908	.	0.532402	0.19156	N	0.121302	T	0.23492	0.0568	N	0.11560	0.145	0.31243	N	0.694998	B	0.06786	0.001	B	0.01281	0.0	T	0.10753	-1.0616	10	0.38643	T	0.18	-7.7264	6.438	0.21835	0.4635:0.0:0.5365:0.0	.	272	O94989	ARHGF_HUMAN	H	272	ENSP00000355026:R272H;ENSP00000412505:R272H	ENSP00000355026:R272H	R	+	2	0	ARHGEF15	8157178	0.975000	0.34042	0.994000	0.49952	0.429000	0.31625	0.150000	0.16263	0.283000	0.22279	-0.367000	0.07326	CGC		0.632	ARHGEF15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226993.2	NM_173728		3	30	0	0	0	1	0	3	30					A	8216453	G	A	8216453	3	1	256	1	0	0	0	0	1	0	0	0	898	1087	38	1	821	1	ARHGEF15	17	8216453	Missense_Mutation	SNP	G	TCGA-HC-A9TE-01A-11D-A41K-08	413614	8216453	72978757	48	12006											
KRT31	3881	broad.mit.edu	37	chr17	39551746	39551746	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccattgctccacttccctgcGgttggtttccaccagggcct	4	12	9	16	1	0	0	0	0	0	0	3	0	3	0	6	3	2	3	6	3	0	4			TCGA-HC-A9TE-01A-11D-A41K-08	TCGA-HC-A9TE-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8483a81-abcb-43d1-abea-e4c00743c928	8ee5606a-20d7-43a6-a199-d18c295e4b1d	g.chr17:39551746G>A	ENST00000251645.2	-	4	770	c.718C>T	c.(718-720)Cgc>Tgc	p.R240C		NM_002277.2	NP_002268.2	Q15323	K1H1_HUMAN	keratin 31	240	Coil 2.|Rod.				epidermis development (GO:0008544)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural constituent of cytoskeleton (GO:0005200)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	31		Breast(137;0.000496)				ACTTCCCTGCGGTTGGTTTCC	0.627																																						ENST00000251645.2																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	31						c.(718-720)Cgc>Tgc		keratin 31							109	99	102					17																	39551746		2203	4300	6503	SO:0001583	missense	3881				epidermis development	intermediate filament	protein binding|structural constituent of cytoskeleton	g.chr17:39551746G>A	X86570	CCDS11391.1	17q21.2	2014-05-20	2006-07-17	2006-07-17	ENSG00000094796	ENSG00000094796		"-", "Intermediate filaments type I, keratins (acidic)"	6448	protein-coding gene	gene with protein product	"hard keratin type I 1"	601077	"keratin, hair, acidic, 1"	KRTHA1		7578244, 16831889	Standard	NM_002277		Approved	Ha-1	uc002hwn.3	Q15323	OTTHUMG00000133423	ENST00000251645.2:c.718C>T	17.37:g.39551746G>A	ENSP00000251645:p.Arg240Cys						p.R240C	NM_002277.2	NP_002268.2	Q15323	K1H1_HUMAN			4	770	-		Breast(137;0.000496)	240			Coil 2.|Rod.		Q9UE12	Missense_Mutation	SNP	ENST00000251645.2	37	c.718C>T	CCDS11391.1	.	.	.	.	.	.	.	.	.	.	g	17.86	3.492403	0.64074	.	.	ENSG00000094796	ENST00000251645	D	0.90197	-2.63	5.4	4.44	0.53790	Filament (1);	0.000000	0.64402	D	0.000006	D	0.96204	0.8762	H	0.96547	3.84	0.43308	D	0.995314	D	0.89917	1.0	D	0.97110	1.0	D	0.95642	0.8699	10	0.87932	D	0	.	7.8267	0.29320	0.0767:0.0:0.6543:0.269	.	240	Q15323	K1H1_HUMAN	C	240	ENSP00000251645:R240C	ENSP00000251645:R240C	R	-	1	0	KRT31	36805272	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	2.775000	0.47702	1.275000	0.44379	-0.253000	0.11424	CGC		0.627	KRT31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257286.1	NM_002277		8	62	0	0	0	1	0	8	62					A	39551746	G	A	39551746	3	1	256	1	0	0	0	0	1	0	0	0	8467	1116	39	2	548	2	KRT31	17	39551746	Missense_Mutation	SNP	G	TCGA-HC-A9TE-01A-11D-A41K-08	31335293	39551746	41643464	49	12007											
KCNJ16	3773	broad.mit.edu	37	chr17	68128440	68128440	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttgtggacaccaagtggcGccatatgtttgtgatatttt	8	16	10	7	1	1	1	0	1	1	0	1	2	1	2	2	2	0	1	2	2	3	6			TCGA-HC-A9TE-01A-11D-A41K-08	TCGA-HC-A9TE-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8483a81-abcb-43d1-abea-e4c00743c928	8ee5606a-20d7-43a6-a199-d18c295e4b1d	g.chr17:68128440G>A	ENST00000589377.1	+	2	375	c.212G>A	c.(211-213)cGc>cAc	p.R71H	KCNJ16_ENST00000586462.1_Missense_Mutation_p.R110H|KCNJ16_ENST00000392670.1_Missense_Mutation_p.R71H|KCNJ16_ENST00000283936.1_Missense_Mutation_p.R71H|KCNJ16_ENST00000392671.1_Missense_Mutation_p.R71H|KCNJ16_ENST00000585558.1_Missense_Mutation_p.R106H	NM_001270422.1	NP_001257351.1	Q9NPI9	KCJ16_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 16	71					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	inward rectifier potassium channel activity (GO:0005242)			breast(3)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	32	Breast(10;2.96e-09)					ACCAAGTGGCGCCATATGTTT	0.403																																						ENST00000585558.1																			0				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	32						c.(316-318)cGc>cAc		potassium inwardly-rectifying channel, subfamily J, member 16							272	237	249					17																	68128440		2203	4300	6503	SO:0001583	missense	3773				synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity	g.chr17:68128440G>A	AF153815	CCDS11687.1, CCDS74141.1	17q24.3	2011-07-05				ENSG00000153822		"Potassium channels", "Voltage-gated ion channels / Potassium channels, Inwardly rectifying"	6262	protein-coding gene	gene with protein product		605722				11240146, 16382105	Standard	NM_018658		Approved	Kir5.1, BIR9	uc002jio.4	Q9NPI9		ENST00000589377.1:c.212G>A	17.37:g.68128440G>A	ENSP00000465967:p.Arg71His					KCNJ16_ENST00000586462.1_Missense_Mutation_p.R110H|KCNJ16_ENST00000589377.1_Missense_Mutation_p.R71H|KCNJ16_ENST00000392670.1_Missense_Mutation_p.R71H|KCNJ16_ENST00000283936.1_Missense_Mutation_p.R71H|KCNJ16_ENST00000392671.1_Missense_Mutation_p.R71H	p.R106H			Q9NPI9	IRK16_HUMAN			4	705	+	Breast(10;2.96e-09)		71						Missense_Mutation	SNP	ENST00000589377.1	37	c.317G>A	CCDS11687.1	.	.	.	.	.	.	.	.	.	.	G	18.38	3.610442	0.66558	.	.	ENSG00000153822	ENST00000283936;ENST00000392671;ENST00000392670	D;D;D	0.95918	-3.85;-3.85;-3.85	6.16	5.2	0.72013	Potassium channel, inwardly rectifying, Kir, conserved region 2 (2);	0.000000	0.85682	D	0.000000	D	0.97414	0.9154	M	0.76838	2.35	0.58432	D	0.999993	P;D	0.89917	0.717;1.0	B;D	0.78314	0.135;0.991	D	0.97532	1.0080	9	.	.	.	.	15.2026	0.73153	0.0675:0.0:0.9325:0.0	.	71;71	A8K434;Q9NPI9	.;IRK16_HUMAN	H	71	ENSP00000283936:R71H;ENSP00000376439:R71H;ENSP00000376438:R71H	.	R	+	2	0	KCNJ16	65640035	1.000000	0.71417	0.998000	0.56505	0.322000	0.28314	9.771000	0.98977	1.632000	0.50472	-0.142000	0.14014	CGC		0.403	KCNJ16-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450880.1	NM_018658		24	61	0	0	0	1	0	24	61					A	68128440	G	A	68128440	3	1	256	1	0	0	0	0	1	0	0	0	8050	1087	38	1	214	1	KCNJ16	17	68128440	Missense_Mutation	SNP	G	TCGA-HC-A9TE-01A-11D-A41K-08	28576694	68128440	13066770	50	12008											
LAMA1	284217	broad.mit.edu	37	chr18	7034683	7034683	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtgtgcttaaagtgagtcCgtttccctaacatttaaaaa	12	14	7	8	1	0	1	0	1	0	0	2	1	2	1	2	0	2	2	2	0	6	5	rs146460281		TCGA-HC-A9TE-01A-11D-A41K-08	TCGA-HC-A9TE-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8483a81-abcb-43d1-abea-e4c00743c928	8ee5606a-20d7-43a6-a199-d18c295e4b1d	g.chr18:7034683C>A	ENST00000389658.3	-	14	1939	c.1846G>T	c.(1846-1848)Gga>Tga	p.G616*		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	616	Laminin IV type A 1. {ECO:0000255|PROSITE-ProRule:PRU00458}.				axon guidance (GO:0007411)|branching involved in salivary gland morphogenesis (GO:0060445)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment of epithelial cell apical/basal polarity (GO:0045198)|extracellular matrix organization (GO:0030198)|morphogenesis of an epithelial sheet (GO:0002011)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|laminin-1 complex (GO:0005606)|laminin-3 complex (GO:0005608)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)				AAAGTGAGTCCGTTTCCCTAA	0.328																																						ENST00000389658.3																			0				NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205						c.(1846-1848)Gga>Tga		laminin, alpha 1	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						91	83	86					18																	7034683		2203	4300	6503	SO:0001587	stop_gained	284217				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding	g.chr18:7034683C>A	X58531	CCDS32787.1	18p11.3	2013-03-01			ENSG00000101680	ENSG00000101680		"Laminins"	6481	protein-coding gene	gene with protein product		150320		LAMA		2591971	Standard	NM_005559		Approved		uc002knm.3	P25391	OTTHUMG00000133478	ENST00000389658.3:c.1846G>T	18.37:g.7034683C>A	ENSP00000374309:p.Gly616*						p.G616*	NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN			14	1939	-		Colorectal(10;0.172)	616			Laminin IV type A 1.			Nonsense_Mutation	SNP	ENST00000389658.3	37	c.1846G>T	CCDS32787.1	.	.	.	.	.	.	.	.	.	.	C	39	7.572543	0.98365	.	.	ENSG00000101680	ENST00000389658	.	.	.	5.9	5.03	0.67393	.	0.056144	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.40728	T	0.16	.	15.9306	0.79656	0.0:0.8753:0.0:0.1247	.	.	.	.	X	616	.	ENSP00000374309:G616X	G	-	1	0	LAMA1	7024683	1.000000	0.71417	0.999000	0.59377	0.647000	0.38526	4.054000	0.57434	0.850000	0.35239	-0.797000	0.03246	GGA		0.328	LAMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257369.1	NM_005559		6	48	1	0	0.0293803	1	0.0293803	6	48					A	7034683	C	A	7034683	4	1	256	1	0	0	0	0	0	1	0	0	8605	661	23	5	7581	5	LAMA1	18	7034683	Nonsense_Mutation	SNP	C	TCGA-HC-A9TE-01A-11D-A41K-08		7034683	71042565	51	12009											
KIAA1012	22878	broad.mit.edu	37	chr18	29446818	29446820	+	In_Frame_Del	DEL	GAC	GAC	-																															gctatagcctttacctgtgtGacatccgggaagagcaccaa																										TCGA-HC-A9TE-01A-11D-A41K-08	TCGA-HC-A9TE-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8483a81-abcb-43d1-abea-e4c00743c928	8ee5606a-20d7-43a6-a199-d18c295e4b1d	g.chr18:29446818_29446820delGAC	ENST00000283351.4	-	18	2917_2919	c.2582_2584delGTC	c.(2581-2586)tgtcac>tac	p.861_862CH>Y	TRAPPC8_ENST00000582539.1_In_Frame_Del_p.807_808CH>Y	NM_014939.3	NP_055754	Q9Y2L5	TPPC8_HUMAN	trafficking protein particle complex 8	861					vesicle-mediated transport (GO:0016192)	Golgi apparatus (GO:0005794)				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(7)|liver(2)|lung(13)|ovary(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						TTACCTGTGTGACATCCGGGAAG	0.384																																						ENST00000283351.4																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(7)|liver(2)|lung(13)|ovary(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						c.(2581-2586)tac>t		trafficking protein particle complex 8																																				SO:0001651	inframe_deletion	22878				ER to Golgi vesicle-mediated transport	cis-Golgi network		g.chr18:29446818_29446820delGAC	AB023229	CCDS11901.1	18q12.1	2011-10-10	2010-06-29	2010-06-29	ENSG00000153339	ENSG00000153339		"Trafficking protein particle complex"	29169	protein-coding gene	gene with protein product	"general sporulation gene 1 homolog (S. cerevisiae)"	614136	"KIAA1012"	KIAA1012		10231032, 11230166	Standard	NM_014939		Approved	HsT2706, TRS85, GSG1	uc002kxc.4	Q9Y2L5	OTTHUMG00000132267	ENST00000283351.4:c.2582_2584delGTC	18.37:g.29446818_29446820delGAC	ENSP00000283351:p.Cys861_His862delinsTyr					TRAPPC8_ENST00000582539.1_In_Frame_Del_p.CH807del	p.CH861del	NM_014939.3	NP_055754.2	Q9Y2L5	TPPC8_HUMAN			18	2917_2919	-			861					A0JP15|B3KME5|Q9H0L2	In_Frame_Del	DEL	ENST00000283351.4	37	c.2582_2584delGTC	CCDS11901.1																																																																																				0.384	TRAPPC8-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255355.1	NM_014939		32	73						32	73	---	---	---	---	-	29446820	GAC	-	29446818	7	5	256	1	0	1	0	1	0	0	0	0	8204	1290	45	0	1771	0	KIAA1012	18	29446818	In_Frame_Del	DEL	GAC	TCGA-HC-A9TE-01A-11D-A41K-08	22412135	29446818	48630430	52	12010											
SERPINB12	89777	broad.mit.edu	37	chr18	61232706	61232706	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caagagtgtgaagatgatgaCgcaaaaaggcctctacagaa	17	6	11	7	1	1	6	0	3	1	3	1	6	1	6	1	1	1	1	1	1	6	1	rs200518644	byFrequency	TCGA-HC-A9TE-01A-11D-A41K-08	TCGA-HC-A9TE-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8483a81-abcb-43d1-abea-e4c00743c928	8ee5606a-20d7-43a6-a199-d18c295e4b1d	g.chr18:61232706C>T	ENST00000269491.1	+	6	674	c.674C>T	c.(673-675)aCg>aTg	p.T225M	SERPINB12_ENST00000382768.1_Missense_Mutation_p.T245M	NM_080474.1	NP_536722.1	Q96P63	SPB12_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 12	225					hematopoietic progenitor cell differentiation (GO:0002244)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of protein catabolic process (GO:0042177)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	enzyme binding (GO:0019899)|serine-type endopeptidase inhibitor activity (GO:0004867)	p.T225M(1)		kidney(1)|large_intestine(5)|lung(19)|skin(1)	26						AAGATGATGACGCAAAAAGGC	0.488													C|||	2	0.000399361	0	0	5008	,	,		20293	0		0	False		,,,				2504	0.002					ENST00000382768.1																			1	Substitution - Missense(1)	p.T225M(1)	lung(1)	kidney(1)|large_intestine(5)|lung(19)|skin(1)	26						c.(733-735)aCg>aTg		serpin peptidase inhibitor, clade B (ovalbumin), member 12							146	131	136					18																	61232706		2203	4300	6503	SO:0001583	missense	89777				negative regulation of protein catabolic process|regulation of proteolysis	cytoplasm	enzyme binding|serine-type endopeptidase inhibitor activity	g.chr18:61232706C>T	AF411191	CCDS11984.1	18q21.33	2014-02-18	2005-08-18		ENSG00000166634	ENSG00000166634		"Serine (or cysteine) peptidase inhibitors"	14220	protein-coding gene	gene with protein product		615662	"serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 12"			24172014	Standard	NM_080474		Approved	YUKOPIN	uc010xen.2	Q96P63	OTTHUMG00000132789	ENST00000269491.1:c.674C>T	18.37:g.61232706C>T	ENSP00000269491:p.Thr225Met					SERPINB12_ENST00000269491.1_Missense_Mutation_p.T225M	p.T245M			Q96P63	SPB12_HUMAN			6	734	+			225					Q3SYB4	Missense_Mutation	SNP	ENST00000269491.1	37	c.734C>T	CCDS11984.1	.	.	.	.	.	.	.	.	.	.	C	2.661	-0.279765	0.05642	.	.	ENSG00000166634	ENST00000269491;ENST00000382768	D;D	0.82803	-1.65;-1.65	5.35	0.44	0.16572	Serpin domain (3);	1.245950	0.05373	N	0.535732	T	0.69993	0.3173	N	0.21194	0.64	0.09310	N	1	B;B	0.09022	0.002;0.001	B;B	0.08055	0.003;0.0	T	0.54456	-0.8291	10	0.42905	T	0.14	.	3.0124	0.06048	0.5129:0.1228:0.065:0.2993	.	245;225	Q3SYB4;Q96P63	.;SPB12_HUMAN	M	225;245	ENSP00000269491:T225M;ENSP00000372218:T245M	ENSP00000269491:T225M	T	+	2	0	SERPINB12	59383686	0.007000	0.16637	0.031000	0.17742	0.015000	0.08874	0.748000	0.26305	0.131000	0.18576	-0.769000	0.03391	ACG		0.488	SERPINB12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256197.1	NM_080474		13	64	0	0	0	1	0	13	64					T	61232706	C	T	61232706	3	4	256	1	0	0	0	0	1	0	0	0	14099	536	19	1	696	1	SERPINB12	18	61232706	Missense_Mutation	SNP	C	TCGA-HC-A9TE-01A-11D-A41K-08	31785888	61232706	16844542	53	12011											
MUC16	94025	broad.mit.edu	37	chr19	9063011	9063011	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcagcagtggcaccagtgggCactccagaaaggacagtgct	11	6	13	11	0	1	1	1	0	0	1	2	2	2	2	2	3	2	4	2	3	1	0			TCGA-HC-A9TE-01A-11D-A41K-08	TCGA-HC-A9TE-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8483a81-abcb-43d1-abea-e4c00743c928	8ee5606a-20d7-43a6-a199-d18c295e4b1d	g.chr19:9063011C>T	ENST00000397910.4	-	3	24638	c.24435G>A	c.(24433-24435)gtG>gtA	p.V8145V		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	8147	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CACCAGTGGGCACTCCAGAAA	0.542																																						ENST00000397910.4																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(24433-24435)gtG>gtA		mucin 16, cell surface associated							119	116	117					19																	9063011		2024	4186	6210	SO:0001819	synonymous_variant	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9063011C>T	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.24435G>A	19.37:g.9063011C>T							p.V8145V	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			3	24638	-			8147			Ser-rich.|Thr-rich.		Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	c.24435G>A	CCDS54212.1																																																																																				0.542	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		12	79	0	0	0	1	0	12	79					T	9063011	C	T	9063011	2	4	256	1	0	0	0	0	0	0	0	1	9973	697	25	3		3	MUC16	19	9063011	Silent	SNP	C	TCGA-HC-A9TE-01A-11D-A41K-08		9063011	50065972	54	12012											
NOTCH3	4854	broad.mit.edu	37	chr19	15300085	15300085	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	acgatggagctcccctcaccGatagagcactcgtccacatc	10	7	8	16	3	1	1	1	0	0	1	5	4	3	2	4	1	2	2	4	1	1	1	rs144214159		TCGA-HC-A9TE-01A-11D-A41K-08	TCGA-HC-A9TE-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8483a81-abcb-43d1-abea-e4c00743c928	8ee5606a-20d7-43a6-a199-d18c295e4b1d	g.chr19:15300085G>A	ENST00000263388.2	-	7	1266	c.1191C>T	c.(1189-1191)atC>atT	p.I397I		NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	notch 3	397	EGF-like 10; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				forebrain development (GO:0030900)|gene expression (GO:0010467)|glomerular capillary formation (GO:0072104)|negative regulation of neuron differentiation (GO:0045665)|neuron fate commitment (GO:0048663)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|positive regulation of smooth muscle cell proliferation (GO:0048661)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			TCCCCTCACCGATAGAGCACT	0.637																																						ENST00000263388.2																			0				breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93						c.e7+1		notch 3		G		0,4406		0,0,2203	80	78	78		1191	-4.5	1	19	dbSNP_134	78	1,8599	1.2+/-3.3	0,1,4299	yes	coding-synonymous-near-splice	NOTCH3	NM_000435.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		397/2322	15300085	1,13005	2203	4300	6503	SO:0001630	splice_region_variant	4854				Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	g.chr19:15300085G>A	U97669	CCDS12326.1	19p13.2-p13.1	2013-01-10	2010-06-24			ENSG00000074181		"Ankyrin repeat domain containing"	7883	protein-coding gene	gene with protein product		600276	"Notch (Drosophila) homolog 3", "Notch homolog 3 (Drosophila)"	CADASIL		7835890	Standard	NM_000435		Approved	CASIL	uc002nan.3	Q9UM47		ENST00000263388.2:c.1192+1C>T	19.37:g.15300085G>A							p.I397_splice	NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)		7	1266	-			397			EGF-like 10; calcium-binding (Potential).		Q9UEB3|Q9UPL3|Q9Y6L8	Splice_Site	SNP	ENST00000263388.2	37	c.1192_splice	CCDS12326.1																																																																																				0.637	NOTCH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465714.1	NM_000435	Silent	31	37	0	0	0	1	0	31	37					A	15300085	G	A	15300085	5	1	256	1	0	0	0	0	0	0	1	0	10550	1072	37	2	5882	2	NOTCH3	19	15300085	Splice_Site	SNP	G	TCGA-HC-A9TE-01A-11D-A41K-08	6237074	15300085	43828898	55	12013											
B3GNT3	10331	broad.mit.edu	37	chr19	17919012	17919012	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcggcgcacgtggggccgCgagcgcaaggtacggggttt	5	6	19	11	7	0	0	0	0	0	0	0	1	0	0	1	6	3	4	1	6	2	2			TCGA-HC-A9TE-01A-11D-A41K-08	TCGA-HC-A9TE-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8483a81-abcb-43d1-abea-e4c00743c928	8ee5606a-20d7-43a6-a199-d18c295e4b1d	g.chr19:17919012C>T	ENST00000318683.6	+	2	543	c.396C>T	c.(394-396)cgC>cgT	p.R132R	B3GNT3_ENST00000595387.1_Silent_p.R132R	NM_014256.3	NP_055071.2	Q9Y2A9	B3GN3_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 3	132					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,3-N-acetylglucosaminyltransferase activity (GO:0047223)|galactosyltransferase activity (GO:0008378)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	21						CGTGGGGCCGCGAGCGCAAGG	0.682																																						ENST00000318683.6																			0				breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	21						c.(394-396)cgC>cgT		UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 3							22	24	24					19																	17919012		2202	4297	6499	SO:0001819	synonymous_variant	10331				protein glycosylation	Golgi membrane|integral to plasma membrane	galactosyltransferase activity	g.chr19:17919012C>T	AB015630	CCDS12364.1	19p13.1	2013-02-19				ENSG00000179913		"Beta 3-glycosyltransferases"	13528	protein-coding gene	gene with protein product	"putative type II membrane protein", "beta-1,3-N-acetylglucosaminyltransferase bGnT-3", "transmembrane protein 3"	605863		TMEM3		10072769, 11042166	Standard	NM_014256		Approved	B3GN-T3, beta3Gn-T3, HP10328, B3GNT-3	uc002nhl.1	Q9Y2A9		ENST00000318683.6:c.396C>T	19.37:g.17919012C>T						B3GNT3_ENST00000595387.1_Silent_p.R132R	p.R132R	NM_014256.3	NP_055071.2	Q9Y2A9	B3GN3_HUMAN			2	543	+			132					B2RAS4|Q6NWU9|Q6NXU9|Q8WWR6|Q9C0J2	Silent	SNP	ENST00000318683.6	37	c.396C>T	CCDS12364.1																																																																																				0.682	B3GNT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466877.1	NM_014256		7	32	0	0	0	1	0	7	32					T	17919012	C	T	17919012	2	4	256	1	0	0	0	0	0	0	0	1	1258	755	27	1		1	B3GNT3	19	17919012	Silent	SNP	C	TCGA-HC-A9TE-01A-11D-A41K-08	2618927	17919012	41209971	56	12014											
ZNF492	57615	broad.mit.edu	37	chr19	22847907	22847907	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggagagaaaccctacaagtGtgaagaatgtggcaaagcct	15	7	12	7	0	0	3	0	1	0	2	0	5	0	4	2	2	3	1	2	2	6	1			TCGA-HC-A9TE-01A-11D-A41K-08	TCGA-HC-A9TE-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8483a81-abcb-43d1-abea-e4c00743c928	8ee5606a-20d7-43a6-a199-d18c295e4b1d	g.chr19:22847907G>A	ENST00000456783.2	+	4	1680	c.1436G>A	c.(1435-1437)tGt>tAt	p.C479Y	CTC-457E21.9_ENST00000601860.1_RNA	NM_020855.2	NP_065906.1	Q9P255	ZN492_HUMAN	zinc finger protein 492	479					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		all_cancers(12;0.0266)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00203)|Hepatocellular(1079;0.244)				CCCTACAAGTGTGAAGAATGT	0.378																																						ENST00000456783.2																			0				endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(1435-1437)tGt>tAt		zinc finger protein 492							27	39	35					19																	22847907		2038	4246	6284	SO:0001583	missense	57615				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:22847907G>A	AB040906	CCDS46032.1	19p13.11	2013-01-08				ENSG00000229676		"Zinc fingers, C2H2-type"	23707	protein-coding gene	gene with protein product			"zinc finger protein 115 (Y20)"	ZNF115		10819331	Standard	NM_020855		Approved	KIAA1473	uc002nqw.3	Q9P255		ENST00000456783.2:c.1436G>A	19.37:g.22847907G>A	ENSP00000413660:p.Cys479Tyr						p.C479Y	NM_020855.2	NP_065906.1	Q9P255	ZN492_HUMAN			4	1680	+		all_cancers(12;0.0266)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00203)|Hepatocellular(1079;0.244)	479					Q08EI7|Q08EI8	Missense_Mutation	SNP	ENST00000456783.2	37	c.1436G>A	CCDS46032.1	.	.	.	.	.	.	.	.	.	.	.	10.98	1.504168	0.26949	.	.	ENSG00000229676	ENST00000456783	D	0.85088	-1.94	1.12	1.12	0.20585	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.91064	0.7188	H	0.94964	3.605	0.09310	N	0.999999	B	0.30793	0.295	P	0.44990	0.466	D	0.85700	0.1312	9	0.72032	D	0.01	.	7.4251	0.27094	0.0:0.0:1.0:0.0	.	479	Q9P255	ZN492_HUMAN	Y	479	ENSP00000413660:C479Y	ENSP00000413660:C479Y	C	+	2	0	ZNF492	22639747	1.000000	0.71417	0.321000	0.25320	0.329000	0.28539	6.289000	0.72696	0.269000	0.21961	0.274000	0.19336	TGT		0.378	ZNF492-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464581.1	NM_020855		5	64	0	0	0	1	0	5	64					A	22847907	G	A	22847907	3	1	256	1	0	0	0	0	1	0	0	0	17940	1377	48	3	1446	3	ZNF492	19	22847907	Missense_Mutation	SNP	G	TCGA-HC-A9TE-01A-11D-A41K-08	4928895	22847907	36281076	57	12015											
ETV2	2116	broad.mit.edu	37	chr19	36134545	36134545	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cccggggctgcatgcgggtgGcaccacctctttgaagcggt	5	8	15	13	3	1	1	0	1	1	0	1	1	1	1	3	5	3	3	3	5	1	1			TCGA-HC-A9TE-01A-11D-A41K-08	TCGA-HC-A9TE-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8483a81-abcb-43d1-abea-e4c00743c928	8ee5606a-20d7-43a6-a199-d18c295e4b1d	g.chr19:36134545G>A	ENST00000403402.1	+	4	911	c.605G>A	c.(604-606)gGc>gAc	p.G202D	ETV2_ENST00000379023.4_Intron|ETV2_ENST00000402764.2_Missense_Mutation_p.G202D|ETV2_ENST00000379026.2_Missense_Mutation_p.G230D|ETV2_ENST00000479824.1_Missense_Mutation_p.G109D			O00321	ETV2_HUMAN	ets variant 2	202					blastocyst development (GO:0001824)|blood vessel morphogenesis (GO:0048514)|BMP signaling pathway involved in mesodermal cell fate specification (GO:0060803)|cell differentiation (GO:0030154)|erythrocyte differentiation (GO:0030218)|Notch signaling pathway (GO:0007219)|placenta development (GO:0001890)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of mesoderm development (GO:2000382)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)|Wnt signaling pathway (GO:0016055)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			lung(2)	2	all_lung(56;2.22e-07)|Lung NSC(56;3.47e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CATGCGGGTGGCACCACCTCT	0.677																																						ENST00000379026.2																			0				lung(2)	2						c.(688-690)gGc>gAc		ets variant 2							34	32	33					19																	36134545		2203	4300	6503	SO:0001583	missense	2116						sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr19:36134545G>A	AF000671	CCDS32995.2, CCDS74341.1	19q13.11	2008-09-12	2008-09-12		ENSG00000105672	ENSG00000105672			3491	protein-coding gene	gene with protein product		609358	"ets variant gene 2"			1340465	Standard	XM_005258654		Approved	ER71	uc002oar.2	O00321	OTTHUMG00000150545	ENST00000403402.1:c.605G>A	19.37:g.36134545G>A	ENSP00000385369:p.Gly202Asp					ETV2_ENST00000479824.1_Missense_Mutation_p.G109D|ETV2_ENST00000402764.2_Missense_Mutation_p.G202D|ETV2_ENST00000379023.4_Intron|ETV2_ENST00000403402.1_Missense_Mutation_p.G202D	p.G230D			B9EIN1	B9EIN1_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0515)		4	1128	+	all_lung(56;2.22e-07)|Lung NSC(56;3.47e-07)|Esophageal squamous(110;0.162)		202					A6NFN5|B3KUL0|B9EIN1|Q9UEA0	Missense_Mutation	SNP	ENST00000403402.1	37	c.689G>A	CCDS32995.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.21|14.21	2.466998|2.466998	0.43839|0.43839	.|.	.|.	ENSG00000105672|ENSG00000105672	ENST00000379026;ENST00000402764;ENST00000403402|ENST00000379021	T;T;T|.	0.17691|.	2.26;2.27;2.27|.	5.35|5.35	1.9|1.9	0.25705|0.25705	.|.	3.383220|.	0.00639|.	N|.	0.000514|.	T|.	0.13030|.	0.0316|.	N|N	0.08118|0.08118	0|0	0.09310|0.09310	N|N	1|1	P;P;P|.	0.39282|.	0.666;0.666;0.666|.	B;B;B|.	0.34489|.	0.139;0.184;0.184|.	T|.	0.33266|.	-0.9875|.	10|.	0.07990|0.02654	T|T	0.79|1	.|.	4.3787|4.3787	0.11283|0.11283	0.1878:0.0:0.6325:0.1797|0.1878:0.0:0.6325:0.1797	.|.	201;230;202|.	O00321;A6NFN5;B9EIN1|.	ETV2_HUMAN;.;.|.	D|X	230;202;202|151	ENSP00000368312:G230D;ENSP00000384524:G202D;ENSP00000385369:G202D|.	ENSP00000368312:G230D|ENSP00000368307:W151X	G|W	+|+	2|3	0|0	ETV2|ETV2	40826385|40826385	0.000000|0.000000	0.05858|0.05858	0.045000|0.045000	0.18777|0.18777	0.008000|0.008000	0.06430|0.06430	0.306000|0.306000	0.19279|0.19279	1.275000|1.275000	0.44379|0.44379	0.550000|0.550000	0.68814|0.68814	GGC|TGG		0.677	ETV2-004	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318848.2	XM_209182		6	31	0	0	0	1	0	6	31					A	36134545	G	A	36134545	3	1	256	1	0	0	0	0	1	0	0	0	5278	1203	42	3	619	3	ETV2	19	36134545	Missense_Mutation	SNP	G	TCGA-HC-A9TE-01A-11D-A41K-08	13286638	36134545	22994438	58	12016											
FAM98C	147965	broad.mit.edu	37	chr19	38899416	38899416	+	Frame_Shift_Del	DEL	G	G	-																															tatgggcaacgttccagaccGggggggccgcccaaatgagc																								rs375320861		TCGA-HC-A9TE-01A-11D-A41K-08	TCGA-HC-A9TE-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8483a81-abcb-43d1-abea-e4c00743c928	8ee5606a-20d7-43a6-a199-d18c295e4b1d	g.chr19:38899416delG	ENST00000252530.5	+	8	963	c.944delG	c.(943-945)cggfs	p.R315fs	FAM98C_ENST00000343358.7_Frame_Shift_Del_p.R233fs|FAM98C_ENST00000588262.1_Frame_Shift_Del_p.P181fs	NM_174905.3	NP_777565.3	Q17RN3	FA98C_HUMAN	family with sequence similarity 98, member C	315								p.R315L(1)		endometrium(2)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	15	all_cancers(60;3.95e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			GTTCCAGACCGGGGGGGCCGC	0.562																																						ENST00000252530.5																			1	Substitution - Missense(1)	p.R315L(1)	lung(1)	endometrium(2)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	15						c.(943-945)cgfs		family with sequence similarity 98, member C				4,25,3497		0,0,4,12,1,1746	57	62	61			4.8	1	19		62	10,59,7735		0,0,10,27,5,3860	no	codingComplex	FAM98C	NM_174905.3		0,0,14,39,6,5606	A1A1,A1A2,A1R,A2A2,A2R,RR		0.8842,0.8225,0.865			38899416	14,84,11232	1832	4072	5904	SO:0001589	frameshift_variant	147965							g.chr19:38899416delG		CCDS42562.1	19q13.2	2008-02-05				ENSG00000130244			27119	protein-coding gene	gene with protein product						12477932	Standard	NM_174905		Approved	FLJ44669	uc002oin.1	Q17RN3		ENST00000252530.5:c.944delG	19.37:g.38899416delG	ENSP00000252530:p.Arg315fs					FAM98C_ENST00000343358.7_Frame_Shift_Del_p.R233fs|FAM98C_ENST00000588262.1_Frame_Shift_Del_p.P181fs	p.R315fs	NM_174905.3	NP_777565.3	Q17RN3	FA98C_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		8	963	+	all_cancers(60;3.95e-06)		315					A6NMW3|Q66K45	Frame_Shift_Del	DEL	ENST00000252530.5	37	c.944delG	CCDS42562.1																																																																																				0.562	FAM98C-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000459222.1	NM_174905		14	62						14	62	---	---	---	---	-	38899416	G	-	38899416	7	5	256	1	0	1	0	1	0	0	0	0	5658	1116	39	0	974	0	FAM98C	19	38899416	Frame_Shift_Del	DEL	G	TCGA-HC-A9TE-01A-11D-A41K-08	2764871	38899416	20229567	59	12017											
PRR19	284338	broad.mit.edu	37	chr19	42813821	42813821	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtcggaagactaggcgggaaCgtaacaaggccctggtgggc	10	5	17	9	3	0	1	0	0	0	1	1	3	0	3	1	6	2	1	1	6	5	2			TCGA-HC-A9TE-01A-11D-A41K-08	TCGA-HC-A9TE-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8483a81-abcb-43d1-abea-e4c00743c928	8ee5606a-20d7-43a6-a199-d18c295e4b1d	g.chr19:42813821C>T	ENST00000499536.2	+	1	896	c.85C>T	c.(85-87)Cgt>Tgt	p.R29C	PRR19_ENST00000598490.1_Missense_Mutation_p.R29C|PRR19_ENST00000341747.3_Missense_Mutation_p.R29C			A6NJB7	PRR19_HUMAN	proline rich 19	29										NS(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	10		Prostate(69;0.00682)				TAGGCGGGAACGTAACAAGGC	0.602																																						ENST00000499536.2																			0				NS(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	10						c.(85-87)Cgt>Tgt		proline rich 19																																				SO:0001583	missense	284338							g.chr19:42813821C>T	AK124116	CCDS33036.1	19q13.2	2007-12-17				ENSG00000188368			33728	protein-coding gene	gene with protein product							Standard	NM_199285		Approved	MGC70924	uc002oti.3	A6NJB7		ENST00000499536.2:c.85C>T	19.37:g.42813821C>T	ENSP00000445247:p.Arg29Cys					PRR19_ENST00000598490.1_Missense_Mutation_p.R29C|PRR19_ENST00000341747.3_Missense_Mutation_p.R29C	p.R29C			A6NJB7	PRR19_HUMAN			1	896	+		Prostate(69;0.00682)	29					A8K663|B3KW48|Q6P584	Missense_Mutation	SNP	ENST00000499536.2	37	c.85C>T	CCDS33036.1	.	.	.	.	.	.	.	.	.	.	C	13.33	2.204934	0.38905	.	.	ENSG00000188368	ENST00000341747;ENST00000499536	.	.	.	4.49	1.05	0.20165	.	0.000000	0.37715	N	0.001971	T	0.31606	0.0802	L	0.34521	1.04	0.42364	D	0.992428	B;P	0.36599	0.308;0.56	B;B	0.27262	0.067;0.078	T	0.09185	-1.0686	9	0.87932	D	0	3.204	5.1545	0.15027	0.3664:0.5353:0.0:0.0983	.	29;29	A6NJB7;A6NJB7-2	PRR19_HUMAN;.	C	29	.	ENSP00000342709:R29C	R	+	1	0	PRR19	47505661	0.999000	0.42202	0.995000	0.50966	0.110000	0.19582	1.051000	0.30417	0.216000	0.20781	0.650000	0.86243	CGT		0.602	PRR19-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463735.1	NM_199285		29	60	0	0	0	1	0	29	60					T	42813821	C	T	42813821	3	4	256	1	0	0	0	0	1	0	0	0	12591	536	19	1	87	1	PRR19	19	42813821	Missense_Mutation	SNP	C	TCGA-HC-A9TE-01A-11D-A41K-08	3914405	42813821	16315162	60	12018											
EML2	24139	broad.mit.edu	37	chr19	46122422	46122422	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ggcccgactggggtgtgtggCcaggccccacagctcttcca	5	7	14	15	1	1	0	0	0	1	0	2	1	2	0	5	5	1	1	5	5	0	1			TCGA-HC-A9TE-01A-11D-A41K-08	TCGA-HC-A9TE-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8483a81-abcb-43d1-abea-e4c00743c928	8ee5606a-20d7-43a6-a199-d18c295e4b1d	g.chr19:46122422C>T	ENST00000245925.3	-	12	1200	c.1150G>A	c.(1150-1152)Gcc>Acc	p.A384T	EML2_ENST00000587152.1_Missense_Mutation_p.A585T|EML2_ENST00000536630.1_Missense_Mutation_p.A531T|EML2_ENST00000586902.1_5'Flank|EML2_ENST00000589876.1_Missense_Mutation_p.A384T	NM_012155.2	NP_036287.1	O95834	EMAL2_HUMAN	echinoderm microtubule associated protein like 2	384	Tandem atypical propeller in EMLs. {ECO:0000250}.				negative regulation of microtubule polymerization (GO:0031115)|regulation of microtubule nucleation (GO:0010968)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)	microtubule binding (GO:0008017)|tubulin binding (GO:0015631)			NS(1)|breast(2)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(13)|ovary(1)|urinary_tract(1)	31		Ovarian(192;0.179)|all_neural(266;0.224)		OV - Ovarian serous cystadenocarcinoma(262;0.00553)|GBM - Glioblastoma multiforme(486;0.131)|Epithelial(262;0.197)		GGGTGTGTGGCCAGGCCCCAC	0.597																																						ENST00000536630.1																			0				NS(1)|breast(2)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(13)|ovary(1)|urinary_tract(1)	31						c.(1591-1593)Gcc>Acc		echinoderm microtubule associated protein like 2							43	43	43					19																	46122422		2203	4300	6503	SO:0001583	missense	24139				sensory perception of sound|visual perception	cytoplasm|intracellular membrane-bounded organelle|microtubule|microtubule associated complex	catalytic activity|protein binding	g.chr19:46122422C>T	AF103939	CCDS12670.1, CCDS54280.1, CCDS59399.1	19q13.32	2013-01-10				ENSG00000125746		"WD repeat domain containing"	18035	protein-coding gene	gene with protein product	"echinoderm MT-associated protein (EMAP)-like protein 70", "microtubule-associated protein like echinoderm EMAP"					11694528, 10521658	Standard	NM_012155		Approved	EMAP2, ELP70, EMAP-2	uc010xxm.2	O95834		ENST00000245925.3:c.1150G>A	19.37:g.46122422C>T	ENSP00000245925:p.Ala384Thr					EML2_ENST00000245925.3_Missense_Mutation_p.A384T|EML2_ENST00000589876.1_Missense_Mutation_p.A384T|EML2_ENST00000587152.1_Missense_Mutation_p.A585T	p.A531T	NM_001193269.1	NP_001180198.1	O95834	EMAL2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00553)|GBM - Glioblastoma multiforme(486;0.131)|Epithelial(262;0.197)	15	1729	-		Ovarian(192;0.179)|all_neural(266;0.224)	384					B7Z3I2|B7Z3Q9|K7ERL7|Q59EN8|Q8N5A2|Q9UG50	Missense_Mutation	SNP	ENST00000245925.3	37	c.1591G>A	CCDS12670.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.390011	0.82902	.	.	ENSG00000125746	ENST00000536630;ENST00000245925;ENST00000448055;ENST00000399594	T;T;T	0.63744	-0.06;-0.06;-0.06	4.11	4.11	0.48088	WD40/YVTN repeat-like-containing domain (1);Quinonprotein alcohol dehydrogenase-like (1);WD40-repeat-containing domain (1);	0.188178	0.45126	D	0.000387	T	0.66509	0.2796	M	0.74467	2.265	0.37170	D	0.903001	P;D;P	0.53312	0.635;0.959;0.635	P;B;P	0.49477	0.612;0.412;0.461	T	0.75113	-0.3432	10	0.66056	D	0.02	-22.138	9.1754	0.37109	0.2169:0.783:0.0:0.0	.	550;531;384	B7Z3Q9;B7Z3I2;O95834	.;.;EMAL2_HUMAN	T	531;384;542;542	ENSP00000442365:A531T;ENSP00000245925:A384T;ENSP00000382503:A542T	ENSP00000245925:A384T	A	-	1	0	EML2	50814262	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.353000	0.66034	2.109000	0.64355	0.508000	0.49915	GCC		0.597	EML2-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000459608.1	NM_012155		3	17	0	0	0	1	0	3	17					T	46122422	C	T	46122422	3	4	256	1	0	0	0	0	1	0	0	0	5097	739	26	3	831	3	EML2	19	46122422	Missense_Mutation	SNP	C	TCGA-HC-A9TE-01A-11D-A41K-08	3308601	46122422	13006561	61	12019											
UBE2S	27338	broad.mit.edu	37	chr19	55918270	55918270	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggtgggtctgcggtcagtgTcgtcacctccttgtacacca	5	11	13	12	2	3	0	2	0	1	0	5	0	4	0	3	3	2	1	3	3	1	2			TCGA-HC-A9TE-01A-11D-A41K-08	TCGA-HC-A9TE-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8483a81-abcb-43d1-abea-e4c00743c928	8ee5606a-20d7-43a6-a199-d18c295e4b1d	g.chr19:55918270T>C	ENST00000264552.9	-	2	251	c.64A>G	c.(64-66)Aca>Gca	p.T22A	UBE2S_ENST00000589978.1_Missense_Mutation_p.T22A|UBE2S_ENST00000592570.1_5'Flank	NM_014501.2	NP_055316.2	Q16763	UBE2S_HUMAN	ubiquitin-conjugating enzyme E2S	22					activation of anaphase-promoting complex activity (GO:0051488)|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cellular protein modification process (GO:0006464)|exit from mitosis (GO:0010458)|free ubiquitin chain polymerization (GO:0010994)|protein K11-linked ubiquitination (GO:0070979)|protein K27-linked ubiquitination (GO:0044314)|protein K29-linked ubiquitination (GO:0035519)|protein K6-linked ubiquitination (GO:0085020)|protein K63-linked ubiquitination (GO:0070534)	anaphase-promoting complex (GO:0005680)	acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)|ubiquitin-protein transferase activity (GO:0004842)			lung(1)	1	Breast(117;0.155)		LUSC - Lung squamous cell carcinoma(43;0.13)|BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.11)		GCGGTCAGTGTCGTCACCTCC	0.597																																						ENST00000264552.9																			0				lung(1)	1						c.(64-66)Aca>Gca		ubiquitin-conjugating enzyme E2S							121	104	110					19																	55918270		2203	4298	6501	SO:0001583	missense	27338				activation of anaphase-promoting complex activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|exit from mitosis|free ubiquitin chain polymerization|protein K11-linked ubiquitination|protein K27-linked ubiquitination|protein K29-linked ubiquitination|protein K6-linked ubiquitination|protein K63-linked ubiquitination	anaphase-promoting complex	ATP binding|ubiquitin-protein ligase activity	g.chr19:55918270T>C	BC004236	CCDS33114.1	19q13.43	2008-02-05				ENSG00000108106		"Ubiquitin-conjugating enzymes E2"	17895	protein-coding gene	gene with protein product	"ubiquitin carrier protein", "ubiquitin-conjugating enzyme E2-24 kD", "ubiquitin-protein ligase"	610309				1379239	Standard	NM_014501		Approved	E2-EPF	uc002qkx.1	Q16763		ENST00000264552.9:c.64A>G	19.37:g.55918270T>C	ENSP00000264552:p.Thr22Ala					UBE2S_ENST00000589978.1_Missense_Mutation_p.T22A	p.T22A	NM_014501.2	NP_055316.2	Q16763	UBE2S_HUMAN	LUSC - Lung squamous cell carcinoma(43;0.13)|BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.11)	2	251	-	Breast(117;0.155)		22					Q9BTC1	Missense_Mutation	SNP	ENST00000264552.9	37	c.64A>G	CCDS33114.1	.	.	.	.	.	.	.	.	.	.	T	10.93	1.489127	0.26686	.	.	ENSG00000108106	ENST00000264552	T	0.37411	1.2	3.66	3.66	0.41972	Ubiquitin-conjugating enzyme, E2 (2);Ubiquitin-conjugating enzyme/RWD-like (2);	0.118222	0.56097	D	0.000021	T	0.15046	0.0363	N	0.02011	-0.69	0.23882	N	0.996577	B	0.02656	0.0	B	0.04013	0.001	T	0.18840	-1.0324	10	0.56958	D	0.05	-10.7094	10.5846	0.45275	0.0:0.0:0.0:1.0	.	22	Q16763	UBE2S_HUMAN	A	22	ENSP00000264552:T22A	ENSP00000264552:T22A	T	-	1	0	UBE2S	60610082	0.997000	0.39634	0.104000	0.21259	0.897000	0.52465	3.977000	0.56874	1.667000	0.50832	0.374000	0.22700	ACA		0.597	UBE2S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453088.1	NM_014501		5	44	0	0	0	1	0	5	44					C	55918270	T	C	55918270	3	2	256	1	0	0	0	0	1	0	0	0	16869	1667	58	4	616	4	UBE2S	19	55918270	Missense_Mutation	SNP	T	TCGA-HC-A9TE-01A-11D-A41K-08	9795848	55918270	3210713	62	12020											
ZNFX1	57169	broad.mit.edu	37	chr20	47879947	47879947	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ggtactgttcccgtaggacaCcacgcatggtgcactccagg	8	8	12	13	2	0	0	0	0	0	0	2	1	2	1	3	4	2	5	3	4	2	3			TCGA-HC-A9TE-01A-11D-A41K-08	TCGA-HC-A9TE-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8483a81-abcb-43d1-abea-e4c00743c928	8ee5606a-20d7-43a6-a199-d18c295e4b1d	g.chr20:47879947C>T	ENST00000396105.1	-	6	2471	c.2225G>A	c.(2224-2226)gGt>gAt	p.G742D	ZNFX1_ENST00000371752.1_Missense_Mutation_p.G742D|ZNFX1_ENST00000371754.4_Missense_Mutation_p.G742D	NM_021035.2	NP_066363.1	Q9P2E3	ZNFX1_HUMAN	zinc finger, NFX1-type containing 1	742							metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			cervix(2)|endometrium(8)|kidney(7)|large_intestine(15)|liver(1)|lung(17)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	60			BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			CCGTAGGACACCACGCATGGT	0.522																																						ENST00000396105.1																			0				cervix(2)|endometrium(8)|kidney(7)|large_intestine(15)|liver(1)|lung(17)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	60						c.(2224-2226)gGt>gAt		zinc finger, NFX1-type containing 1							144	97	113					20																	47879947		2203	4299	6502	SO:0001583	missense	57169						metal ion binding	g.chr20:47879947C>T	AK022641	CCDS13417.1	20q13.13	2014-02-12			ENSG00000124201	ENSG00000124201			29271	protein-coding gene	gene with protein product						10718198	Standard	NM_021035		Approved	KIAA1404, FLJ11277	uc002xui.3	Q9P2E3	OTTHUMG00000032696	ENST00000396105.1:c.2225G>A	20.37:g.47879947C>T	ENSP00000379412:p.Gly742Asp					ZNFX1_ENST00000371754.4_Missense_Mutation_p.G742D|ZNFX1_ENST00000371752.1_Missense_Mutation_p.G742D	p.G742D	NM_021035.2	NP_066363.1	Q9P2E3	ZNFX1_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		6	2471	-			742					Q9BQM7|Q9BQM8|Q9H8C1|Q9H9S2|Q9NUM1|Q9NWW1	Missense_Mutation	SNP	ENST00000396105.1	37	c.2225G>A	CCDS13417.1	.	.	.	.	.	.	.	.	.	.	c	25.4	4.631629	0.87660	.	.	ENSG00000124201	ENST00000396106;ENST00000371754;ENST00000371752;ENST00000396105;ENST00000371744;ENST00000455070	D;D;D;T;D	0.87179	-2.0;-2.22;-2.22;-0.97;-1.67	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	D	0.93154	0.7820	M	0.76328	2.33	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.91334	0.5092	10	0.33141	T	0.24	-15.5883	18.6827	0.91553	0.0:1.0:0.0:0.0	.	742	Q9P2E3	ZNFX1_HUMAN	D	742;742;742;742;742;546	ENSP00000360819:G742D;ENSP00000360817:G742D;ENSP00000379412:G742D;ENSP00000360809:G742D;ENSP00000413800:G546D	ENSP00000360809:G742D	G	-	2	0	ZNFX1	47313354	1.000000	0.71417	0.183000	0.23137	0.753000	0.42808	7.187000	0.77730	2.766000	0.95052	0.651000	0.88453	GGT		0.522	ZNFX1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079647.2	NM_021035		4	20	0	0	0	1	0	4	20					T	47879947	C	T	47879947	3	4	256	1	0	0	0	0	1	0	0	0	18202	507	18	3	3567	3	ZNFX1	20	47879947	Missense_Mutation	SNP	C	TCGA-HC-A9TE-01A-11D-A41K-08		47879947	15145573	63	12021											
BRWD1	54014	broad.mit.edu	37	chr21	40584626	40584626	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagatgttttaggaagatcaCtatcatcctaggaataaaat	17	12	7	5	0	2	2	2	0	0	2	3	4	3	4	1	2	0	1	1	2	8	5			TCGA-HC-A9TE-01A-11D-A41K-08	TCGA-HC-A9TE-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8483a81-abcb-43d1-abea-e4c00743c928	8ee5606a-20d7-43a6-a199-d18c295e4b1d	g.chr21:40584626C>A	ENST00000333229.2	-	34	4193	c.3866G>T	c.(3865-3867)aGt>aTt	p.S1289I	BRWD1_ENST00000380800.3_Missense_Mutation_p.S1289I|BRWD1_ENST00000342449.3_Missense_Mutation_p.S1289I	NM_018963.4	NP_061836.2	Q9NSI6	BRWD1_HUMAN	bromodomain and WD repeat domain containing 1	1289					cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2)	58		Prostate(19;8.44e-08)|all_epithelial(19;0.223)				AGGAAGATCACTATCATCCTA	0.294																																					Melanoma(170;988 1986 4794 16843 39731)	ENST00000342449.3																			0				cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2)	58						c.(3865-3867)aGt>aTt		bromodomain and WD repeat domain containing 1							77	82	80					21																	40584626		2203	4296	6499	SO:0001583	missense	54014				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus		g.chr21:40584626C>A	AJ002572	CCDS13662.1, CCDS13663.1, CCDS33557.1	21q22.2	2013-05-21	2005-05-13	2005-05-13	ENSG00000185658	ENSG00000185658		"WD repeat domain containing"	12760	protein-coding gene	gene with protein product			"chromosome 21 open reading frame 107", "WD repeat domain 9"	C21orf107, WDR9			Standard	NM_033656		Approved	FLJ11315, N143	uc002yxk.2	Q9NSI6	OTTHUMG00000066030	ENST00000333229.2:c.3866G>T	21.37:g.40584626C>A	ENSP00000330753:p.Ser1289Ile					BRWD1_ENST00000333229.2_Missense_Mutation_p.S1289I|BRWD1_ENST00000380800.3_Missense_Mutation_p.S1289I	p.S1289I	NM_033656.3	NP_387505.1	Q9NSI6	BRWD1_HUMAN			34	3944	-		Prostate(19;8.44e-08)|all_epithelial(19;0.223)	1289					C9JK25|O43721|Q5R2V0|Q5R2V1|Q6P2D1|Q8TCV3|Q96QG9|Q96QH0|Q9NUK1	Missense_Mutation	SNP	ENST00000333229.2	37	c.3866G>T	CCDS13662.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.35|12.35	1.912174|1.912174	0.33721|0.33721	.|.	.|.	ENSG00000185658|ENSG00000185658	ENST00000333229;ENST00000342449;ENST00000380800;ENST00000380783|ENST00000424441	T;T;T|.	0.58506|.	0.33;0.36;0.43|.	5.47|5.47	3.63|3.63	0.41609|0.41609	Bromodomain (1);|.	0.515945|.	0.20890|.	N|.	0.083854|.	T|.	0.64327|.	0.2588|.	M|M	0.70275|0.70275	2.135|2.135	0.80722|0.80722	D|D	1|1	B;B;P|.	0.50943|.	0.203;0.082;0.94|.	B;B;P|.	0.47470|.	0.099;0.087;0.548|.	T|.	0.63545|.	-0.6613|.	10|.	0.33141|.	T|.	0.24|.	-8.1471|-8.1471	8.8663|8.8663	0.35289|0.35289	0.0:0.8172:0.0:0.1828|0.0:0.8172:0.0:0.1828	.|.	1289;1289;1289|.	Q9NSI6-3;Q9NSI6-2;Q9NSI6|.	.;.;BRWD1_HUMAN|.	I|Y	1289;1289;1289;293|274	ENSP00000330753:S1289I;ENSP00000344333:S1289I;ENSP00000370178:S1289I|.	ENSP00000330753:S1289I|.	S|X	-|-	2|3	0|2	BRWD1|BRWD1	39506496|39506496	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.989000|0.989000	0.77384|0.77384	0.939000|0.939000	0.28978|0.28978	1.439000|1.439000	0.47511|0.47511	0.655000|0.655000	0.94253|0.94253	AGT|TAG		0.294	BRWD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000141398.3	NM_033656		12	49	1	0	0.000151284	1	0.000154762	12	49					A	40584626	C	A	40584626	3	1	256	1	0	0	0	0	1	0	0	0	1525	565	20	5	3371	5	BRWD1	21	40584626	Missense_Mutation	SNP	C	TCGA-HC-A9TE-01A-11D-A41K-08		40584626	7545269	64	12022											
ASCC2	84164	broad.mit.edu	37	chr22	30202490	30202490	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcacctcttctcctgcagcaAggagctgaagatctgaagga	11	9	10	11	0	4	3	1	2	3	1	5	5	4	5	2	2	3	3	2	2	3	1			TCGA-HC-A9TE-01A-11D-A41K-08	TCGA-HC-A9TE-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8483a81-abcb-43d1-abea-e4c00743c928	8ee5606a-20d7-43a6-a199-d18c295e4b1d	g.chr22:30202490A>C	ENST00000397771.2	-	12	1246	c.1069T>G	c.(1069-1071)Ttg>Gtg	p.L357V	ASCC2_ENST00000542393.1_Missense_Mutation_p.L281V|ASCC2_ENST00000307790.3_Missense_Mutation_p.L357V|ASCC2_ENST00000478812.1_5'UTR			Q9H1I8	ASCC2_HUMAN	activating signal cointegrator 1 complex subunit 2	357					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)					endometrium(3)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(5;0.000103)|Epithelial(10;0.0169)|all cancers(5;0.0259)			TCCTGCAGCAAGGAGCTGAAG	0.547																																						ENST00000397771.2																			0				endometrium(3)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	18						c.(1069-1071)Ttg>Gtg		activating signal cointegrator 1 complex subunit 2							69	59	62					22																	30202490		2203	4300	6503	SO:0001583	missense	84164				regulation of transcription, DNA-dependent|transcription, DNA-dependent			g.chr22:30202490A>C	AY013289	CCDS13869.1, CCDS56226.1	22q12.1	2004-07-27			ENSG00000100325	ENSG00000100325			24103	protein-coding gene	gene with protein product	"ASC 1 complex subunit P100"	614216				12077347, 9847074	Standard	NM_032204		Approved	ASC1p100, FLJ21588, DKFZp586O0223	uc003agr.3	Q9H1I8	OTTHUMG00000067658	ENST00000397771.2:c.1069T>G	22.37:g.30202490A>C	ENSP00000380877:p.Leu357Val					ASCC2_ENST00000307790.3_Missense_Mutation_p.L357V|ASCC2_ENST00000542393.1_Missense_Mutation_p.L281V|ASCC2_ENST00000478812.1_5'UTR	p.L357V			Q9H1I8	ASCC2_HUMAN	OV - Ovarian serous cystadenocarcinoma(5;0.000103)|Epithelial(10;0.0169)|all cancers(5;0.0259)		12	1246	-			357					B7Z8E0|F5H6J9|Q4TT54|Q8TAZ0|Q9H711|Q9H9D6	Missense_Mutation	SNP	ENST00000397771.2	37	c.1069T>G	CCDS13869.1	.	.	.	.	.	.	.	.	.	.	A	10.02	1.234837	0.22626	.	.	ENSG00000100325	ENST00000307790;ENST00000397771;ENST00000542393	T;T;T	0.08546	3.08;3.08;3.12	5.09	0.405	0.16361	.	0.190029	0.46442	N	0.000286	T	0.03827	0.0108	N	0.12182	0.205	0.28247	N	0.925426	B;B	0.09022	0.002;0.002	B;B	0.13407	0.009;0.005	T	0.38779	-0.9645	10	0.24483	T	0.36	-5.2751	6.3347	0.21289	0.4883:0.3531:0.1585:0.0	.	281;357	F5H6J9;Q9H1I8	.;ASCC2_HUMAN	V	357;357;281	ENSP00000305502:L357V;ENSP00000380877:L357V;ENSP00000437570:L281V	ENSP00000305502:L357V	L	-	1	2	ASCC2	28532490	0.201000	0.23410	0.998000	0.56505	0.994000	0.84299	0.446000	0.21694	0.399000	0.25367	-0.313000	0.08912	TTG		0.547	ASCC2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322127.1	NM_032204		28	22	0	0	0	1	0	28	22					C	30202490	A	C	30202490	3	2	256	1	0	0	0	0	1	0	0	0	1032	69	3	5	1244	5	ASCC2	22	30202490	Missense_Mutation	SNP	A	TCGA-HC-A9TE-01A-11D-A41K-08		30202490	21102076	65	12023											
MXRA5	25878	broad.mit.edu	37	chrX	3229596	3229596	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gctacgcacaggtaatctccGgcatctttgtccgtcactga	8	11	9	13	3	3	1	1	1	2	0	5	1	4	1	2	2	1	4	2	2	2	3	rs187308634		TCGA-HC-A9TE-01A-11D-A41K-08	TCGA-HC-A9TE-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8483a81-abcb-43d1-abea-e4c00743c928	8ee5606a-20d7-43a6-a199-d18c295e4b1d	g.chrX:3229596G>A	ENST00000217939.6	-	7	6802	c.6648C>T	c.(6646-6648)gcC>gcT	p.A2216A		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	2216	Ig-like C2-type 6.					extracellular vesicular exosome (GO:0070062)		p.A2216>?(2)		NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				GGTAATCTCCGGCATCTTTGT	0.453													g|||	1	0.000264901	8e-04	0	3775	,	,		15615	0		0	False		,,,				2504	0					ENST00000217939.6																			2	Complex(2)	p.A2216>?(2)	lung(2)	NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157						c.(6646-6648)gcC>gcT		matrix-remodelling associated 5		G		0,3835		0,0,1632,571	75	69	71		6648	-7.6	0	X		71	1,6727		0,1,2427,1872	no	coding-synonymous	MXRA5	NM_015419.3		0,1,4059,2443	AA,AG,GG,G		0.0149,0.0,0.0095		2216/2829	3229596	1,10562	2203	4300	6503	SO:0001819	synonymous_variant	25878					extracellular region		g.chrX:3229596G>A	AF245505	CCDS14124.1	Xp22.33	2013-01-29			ENSG00000101825	ENSG00000101825		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	7539	protein-coding gene	gene with protein product	"adlican"					12101425	Standard	NM_015419		Approved	DKFZp564I1922	uc004crg.4	Q9NR99	OTTHUMG00000021083	ENST00000217939.6:c.6648C>T	X.37:g.3229596G>A							p.A2216A	NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN			7	6802	-		all_lung(23;0.00031)|Lung NSC(23;0.000946)	2216			Ig-like C2-type 6.		Q6P1M7|Q9Y3Y8	Silent	SNP	ENST00000217939.6	37	c.6648C>T	CCDS14124.1																																																																																				0.453	MXRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055655.2	NM_015419		75	20	0	0	0	1	0	75	20					A	3229596	G	A	3229596	2	1	256	1	0	0	0	0	0	0	0	1	10003	1103	39	2		2	MXRA5	23	3229596	Silent	SNP	G	TCGA-HC-A9TE-01A-11D-A41K-08		3229596	152040964	66	12024											
NHS	4810	broad.mit.edu	37	chrX	17739683	17739683	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agcaaagcactacctctcccGacgccagaggagaagatgaa	15	4	10	12	2	1	4	0	1	1	3	2	6	1	4	3	1	3	2	3	1	4	1			TCGA-HC-A9TE-01A-11D-A41K-08	TCGA-HC-A9TE-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8483a81-abcb-43d1-abea-e4c00743c928	8ee5606a-20d7-43a6-a199-d18c295e4b1d	g.chrX:17739683G>A	ENST00000380060.3	+	4	1313	c.975G>A	c.(973-975)ccG>ccA	p.P325P	NHS_ENST00000398097.3_Silent_p.P169P|NHS_ENST00000485305.1_3'UTR	NM_198270.2	NP_938011.1	Q6T4R5	NHS_HUMAN	Nance-Horan syndrome (congenital cataracts and dental anomalies)	346					cell differentiation (GO:0030154)|lens development in camera-type eye (GO:0002088)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|tight junction (GO:0005923)				breast(5)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(26)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	71	Hepatocellular(33;0.183)					TACCTCTCCCGACGCCAGAGG	0.458																																						ENST00000380060.3																			0				breast(5)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(26)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	71						c.(973-975)ccG>ccA		Nance-Horan syndrome (congenital cataracts and dental anomalies)							229	183	199					X																	17739683		2203	4300	6503	SO:0001819	synonymous_variant	4810					nucleus		g.chrX:17739683G>A		CCDS14181.1, CCDS48087.1	Xp22.3-p21.1	2014-06-18			ENSG00000188158	ENSG00000188158			7820	protein-coding gene	gene with protein product		300457					Standard	NM_001136024		Approved		uc004cxx.3	Q6T4R5	OTTHUMG00000022799	ENST00000380060.3:c.975G>A	X.37:g.17739683G>A						NHS_ENST00000485305.1_3'UTR|NHS_ENST00000398097.3_Silent_p.P169P	p.P325P	NM_198270.2	NP_938011.1	Q6T4R5	NHS_HUMAN			4	1313	+	Hepatocellular(33;0.183)		325					B7ZVX8|E2DH69|Q5J7Q0|Q5J7Q1|Q68DR5	Silent	SNP	ENST00000380060.3	37	c.975G>A	CCDS14181.1																																																																																				0.458	NHS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059120.1	NM_198270		4	70	0	0	0	1	0	4	70					A	17739683	G	A	17739683	2	1	256	1	0	0	0	0	0	0	0	1	10411	1045	37	2		2	NHS	23	17739683	Silent	SNP	G	TCGA-HC-A9TE-01A-11D-A41K-08	14510087	17739683	137530877	67	12025											
PTCHD1	139411	broad.mit.edu	37	chrX	23397963	23397963	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ctgtgcacagcaaagaccggGtgaaatctgcagaggccatc	12	6	12	11	1	1	3	0	1	1	2	2	3	1	3	2	2	3	3	2	2	2	0			TCGA-HC-A9TE-01A-11D-A41K-08	TCGA-HC-A9TE-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8483a81-abcb-43d1-abea-e4c00743c928	8ee5606a-20d7-43a6-a199-d18c295e4b1d	g.chrX:23397963G>A	ENST00000379361.4	+	2	1467	c.607G>A	c.(607-609)Gtg>Atg	p.V203M		NM_173495.2	NP_775766.2	Q96NR3	PTHD1_HUMAN	patched domain containing 1	203					cognition (GO:0050890)|smoothened signaling pathway (GO:0007224)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	hedgehog receptor activity (GO:0008158)			NS(1)|breast(4)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|ovary(4)|skin(2)|urinary_tract(2)	42						CAAAGACCGGGTGAAATCTGC	0.532																																						ENST00000379361.4																			0				NS(1)|breast(4)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|ovary(4)|skin(2)|urinary_tract(2)	42						c.(607-609)Gtg>Atg		patched domain containing 1							140	129	133					X																	23397963		2203	4300	6503	SO:0001583	missense	139411				cognition|smoothened signaling pathway	integral to membrane|plasma membrane	hedgehog receptor activity	g.chrX:23397963G>A	AK054858	CCDS35215.2	Xp22.13	2008-02-05			ENSG00000165186	ENSG00000165186			26392	protein-coding gene	gene with protein product		300828					Standard	NM_173495		Approved	FLJ30296	uc004dal.4	Q96NR3	OTTHUMG00000021251	ENST00000379361.4:c.607G>A	X.37:g.23397963G>A	ENSP00000368666:p.Val203Met						p.V203M	NM_173495.2	NP_775766.2	Q96NR3	PTHD1_HUMAN			2	1467	+			203					B4DQH0|Q0IJ60|Q6P6B8	Missense_Mutation	SNP	ENST00000379361.4	37	c.607G>A	CCDS35215.2	.	.	.	.	.	.	.	.	.	.	G	22.4	4.283555	0.80803	.	.	ENSG00000165186	ENST00000379361	D	0.86164	-2.08	4.86	4.86	0.63082	.	0.000000	0.85682	D	0.000000	D	0.92427	0.7596	M	0.64997	1.995	0.58432	D	0.999992	D;D	0.89917	1.0;0.999	D;D	0.85130	0.997;0.993	D	0.93198	0.6589	10	0.72032	D	0.01	.	17.4049	0.87470	0.0:0.0:1.0:0.0	.	98;203	Q96NR3-3;Q96NR3	.;PTHD1_HUMAN	M	203	ENSP00000368666:V203M	ENSP00000368666:V203M	V	+	1	0	PTCHD1	23307884	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	8.941000	0.92964	2.381000	0.81170	0.600000	0.82982	GTG		0.532	PTCHD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056047.2	NM_173495		15	31	0	0	0	1	0	15	31					A	23397963	G	A	23397963	3	1	256	1	0	0	0	0	1	0	0	0	12732	1261	44	3	613	3	PTCHD1	23	23397963	Missense_Mutation	SNP	G	TCGA-HC-A9TE-01A-11D-A41K-08	5658280	23397963	131872597	68	12026											
AGTR2	186	broad.mit.edu	37	chrX	115304403	115304403	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atgggtgtcattaatagctgCgaagttatagcagtcattga	12	13	11	5	1	2	1	2	1	0	0	2	2	2	1	0	1	3	3	0	1	5	5			TCGA-HC-A9TE-01A-11D-A41K-08	TCGA-HC-A9TE-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8483a81-abcb-43d1-abea-e4c00743c928	8ee5606a-20d7-43a6-a199-d18c295e4b1d	g.chrX:115304403C>T	ENST00000371906.4	+	3	1060	c.870C>T	c.(868-870)tgC>tgT	p.C290C		NM_000686.4	NP_000677.2	P50052	AGTR2_HUMAN	angiotensin II receptor, type 2	290					aldosterone secretion (GO:0035932)|angiotensin-activated signaling pathway (GO:0038166)|blood vessel remodeling (GO:0001974)|brain development (GO:0007420)|brain renin-angiotensin system (GO:0002035)|cell growth involved in cardiac muscle cell development (GO:0061049)|cell surface receptor signaling pathway (GO:0007166)|cellular response to dexamethasone stimulus (GO:0071549)|cellular sodium ion homeostasis (GO:0006883)|cerebellar cortex development (GO:0021695)|dopamine biosynthetic process (GO:0042416)|exploration behavior (GO:0035640)|extracellular negative regulation of signal transduction (GO:1900116)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:0007199)|inflammatory response (GO:0006954)|intracellular signal transduction (GO:0035556)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|negative regulation of cell growth (GO:0030308)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of heart rate (GO:0010459)|negative regulation of icosanoid secretion (GO:0032304)|negative regulation of neurotrophin TRK receptor signaling pathway (GO:0051387)|negative regulation of norepinephrine secretion (GO:0010700)|nitric oxide mediated signal transduction (GO:0007263)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of metanephric glomerulus development (GO:0072300)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of vasodilation (GO:0045909)|regulation of blood pressure (GO:0008217)|regulation of metanephros size (GO:0035566)|regulation of systemic arterial blood pressure by circulatory renin-angiotensin (GO:0001991)|regulation of transcription factor import into nucleus (GO:0042990)|renin-angiotensin regulation of aldosterone production (GO:0002018)|response to organonitrogen compound (GO:0010243)|vasodilation by angiotensin involved in regulation of systemic arterial blood pressure (GO:0002033)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	angiotensin type II receptor activity (GO:0004945)|peptide hormone binding (GO:0017046)|receptor antagonist activity (GO:0048019)	p.C290C(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|skin(1)	24					Tasosartan(DB01349)	TTAATAGCTGCGAAGTTATAG	0.483																																						ENST00000371906.4																			1	Substitution - coding silent(1)	p.C290C(1)	lung(1)	breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|skin(1)	24						c.(868-870)tgC>tgT		angiotensin II receptor, type 2							263	202	223					X																	115304403		2203	4300	6503	SO:0001819	synonymous_variant	186				behavior|blood vessel remodeling|brain development|G-protein signaling, coupled to cGMP nucleotide second messenger|intracellular protein kinase cascade|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of heart rate|negative regulation of nerve growth factor receptor signaling pathway|nitric oxide mediated signal transduction|positive regulation of apoptosis|positive regulation of nitric-oxide synthase activity|positive regulation of phosphoprotein phosphatase activity|positive regulation of vasodilation|regulation of systemic arterial blood pressure by circulatory renin-angiotensin		angiotensin type II receptor activity|receptor antagonist activity	g.chrX:115304403C>T	AY324607	CCDS14569.1	Xq22-q23	2012-08-08			ENSG00000180772	ENSG00000180772		"GPCR / Class A : Angiotensin receptors"	338	protein-coding gene	gene with protein product		300034	"angiotensin receptor 2"			1550596	Standard	NM_000686		Approved	AT2, MRX88	uc004eqh.4	P50052	OTTHUMG00000022243	ENST00000371906.4:c.870C>T	X.37:g.115304403C>T							p.C290C	NM_000686.4	NP_000677.2	P50052	AGTR2_HUMAN			3	1060	+			290					B2R9V1|Q13016|Q6FGY7	Silent	SNP	ENST00000371906.4	37	c.870C>T	CCDS14569.1																																																																																				0.483	AGTR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057984.1	NM_000686		19	27	0	0	0	1	0	19	27					T	115304403	C	T	115304403	2	4	256	1	0	0	0	0	0	0	0	1	402	776	27	1		1	AGTR2	23	115304403	Silent	SNP	C	TCGA-HC-A9TE-01A-11D-A41K-08	91906440	115304403	39966157	69	12027											
EPHB2	2048	broad.mit.edu	37	chr1	23111124	23111124	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tatgaggctgactttgactcGgccaccaagaccttccccaa	10	9	8	14	1	0	4	0	3	0	1	2	4	1	4	5	2	0	1	5	2	3	3			TCGA-HC-A9TH-01A-11D-A41K-08	TCGA-HC-A9TH-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3512f7-1306-483f-a744-ffefce67c8d2	8fae14ec-5bd1-4057-a5f4-a7ce7e45e5f3	g.chr1:23111124G>T	ENST00000400191.3	+	3	384	c.366G>T	c.(364-366)tcG>tcT	p.S122S	EPHB2_ENST00000544305.1_Silent_p.S122S|EPHB2_ENST00000374632.3_Silent_p.S122S|EPHB2_ENST00000374630.3_Silent_p.S122S|EPHB2_ENST00000374627.1_Silent_p.S116S	NM_004442.6|NM_017449.3	NP_004433.2|NP_059145.2	P29323	EPHB2_HUMAN	EPH receptor B2	122	Eph LBD. {ECO:0000255|PROSITE- ProRule:PRU00883}.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|camera-type eye morphogenesis (GO:0048593)|central nervous system projection neuron axonogenesis (GO:0021952)|commissural neuron axon guidance (GO:0071679)|corpus callosum development (GO:0022038)|dendritic spine development (GO:0060996)|dendritic spine morphogenesis (GO:0060997)|ephrin receptor signaling pathway (GO:0048013)|inner ear morphogenesis (GO:0042472)|learning (GO:0007612)|negative regulation of axonogenesis (GO:0050771)|nervous system development (GO:0007399)|optic nerve morphogenesis (GO:0021631)|palate development (GO:0060021)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|positive regulation of synapse assembly (GO:0051965)|regulation of body fluid levels (GO:0050878)|retinal ganglion cell axon guidance (GO:0031290)|urogenital system development (GO:0001655)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|protein tyrosine kinase activity (GO:0004713)|transmembrane-ephrin receptor activity (GO:0005005)			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(8)|stomach(1)|urinary_tract(1)	56		Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153)		ACTTTGACTCGGCCACCAAGA	0.572																																						ENST00000400191.3																			0				NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(8)|stomach(1)|urinary_tract(1)	56						c.(364-366)tcG>tcT		EPH receptor B2							50	45	47					1																	23111124		2203	4300	6503	SO:0001819	synonymous_variant	2048				axon guidance	integral to plasma membrane	ATP binding|transmembrane-ephrin receptor activity	g.chr1:23111124G>T	AF025304	CCDS229.2, CCDS230.1	1p36.1-p35	2014-09-17	2004-10-28		ENSG00000133216	ENSG00000133216	2.7.10.1	"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3393	protein-coding gene	gene with protein product		600997	"EphB2"	DRT, ERK, EPHT3		1648701	Standard	NM_017449		Approved	Hek5, Tyro5	uc001bge.3	P29323	OTTHUMG00000002881	ENST00000400191.3:c.366G>T	1.37:g.23111124G>T						EPHB2_ENST00000544305.1_Silent_p.S122S|EPHB2_ENST00000374632.3_Silent_p.S122S|EPHB2_ENST00000374627.1_Silent_p.S116S|EPHB2_ENST00000374630.3_Silent_p.S122S	p.S122S	NM_004442.6|NM_017449.3	NP_004433.2|NP_059145.2	P29323	EPHB2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153)	3	384	+		Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258)	122					O43477|Q5T0U6|Q5T0U7|Q5T0U8	Silent	SNP	ENST00000400191.3	37	c.366G>T																																																																																					0.572	EPHB2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000008060.2	NM_017449		10	16	1	0	2.17888e-05	1	2.3491e-05	10	16					T	23111124	G	T	23111124	2	4	257	1	0	0	0	0	0	0	0	1	5175	1103	39	5		5	EPHB2	1	23111124	Silent	SNP	G	TCGA-HC-A9TH-01A-11D-A41K-08		23111124	226139497	1	12028											
RUNX3	864	broad.mit.edu	37	chr1	25254068	25254068	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctcccttccacttacctcGcccactgcggcccacgaagc	6	7	7	21	3	0	0	0	0	0	0	3	1	2	0	6	1	3	0	6	1	2	2			TCGA-HC-A9TH-01A-11D-A41K-08	TCGA-HC-A9TH-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3512f7-1306-483f-a744-ffefce67c8d2	8fae14ec-5bd1-4057-a5f4-a7ce7e45e5f3	g.chr1:25254068G>T	ENST00000308873.6	-	2	444	c.436C>A	c.(436-438)Cga>Aga	p.R146R	RUNX3_ENST00000540420.1_Silent_p.R53R|RUNX3_ENST00000496967.1_5'UTR|RUNX3_ENST00000399916.1_Silent_p.R160R|RUNX3_ENST00000338888.3_Silent_p.R160R	NM_004350.2	NP_004341.1	Q13761	RUNX3_HUMAN	runt-related transcription factor 3	146	Runt. {ECO:0000255|PROSITE- ProRule:PRU00399}.				axon guidance (GO:0007411)|cell maturation (GO:0048469)|chondrocyte differentiation (GO:0002062)|hair follicle morphogenesis (GO:0031069)|interferon-gamma production (GO:0032609)|negative regulation of cell cycle (GO:0045786)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|peripheral nervous system neuron development (GO:0048935)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	ATP binding (GO:0005524)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(3)	18		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00131)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0419)|OV - Ovarian serous cystadenocarcinoma(117;2.85e-26)|Colorectal(126;4.35e-08)|COAD - Colon adenocarcinoma(152;1.92e-06)|GBM - Glioblastoma multiforme(114;0.000102)|STAD - Stomach adenocarcinoma(196;0.000766)|KIRC - Kidney renal clear cell carcinoma(1967;0.00148)|BRCA - Breast invasive adenocarcinoma(304;0.00173)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.136)		CACTTACCTCGCCCACTGCGG	0.587																																						ENST00000399916.1																			0				endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(3)	18						c.(478-480)Cga>Aga		runt-related transcription factor 3							81	70	74					1																	25254068		2203	4300	6503	SO:0001819	synonymous_variant	864				cell proliferation|induction of apoptosis|negative regulation of cell cycle|negative regulation of epithelial cell proliferation|protein phosphorylation|transcription from RNA polymerase II promoter	cytoplasm|nucleus	ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr1:25254068G>T	BC013362	CCDS257.1, CCDS30633.1	1p36	2008-02-05			ENSG00000020633	ENSG00000020633			10473	protein-coding gene	gene with protein product		600210		CBFA3		7835892	Standard	NM_001031680		Approved	AML2, PEBP2A3	uc001bjq.3	Q13761	OTTHUMG00000003316	ENST00000308873.6:c.436C>A	1.37:g.25254068G>T						RUNX3_ENST00000308873.6_Silent_p.R146R|RUNX3_ENST00000496967.1_5'UTR|RUNX3_ENST00000540420.1_Silent_p.R53R|RUNX3_ENST00000338888.3_Silent_p.R160R	p.R160R	NM_001031680.2	NP_001026850.1	Q13761	RUNX3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0419)|OV - Ovarian serous cystadenocarcinoma(117;2.85e-26)|Colorectal(126;4.35e-08)|COAD - Colon adenocarcinoma(152;1.92e-06)|GBM - Glioblastoma multiforme(114;0.000102)|STAD - Stomach adenocarcinoma(196;0.000766)|KIRC - Kidney renal clear cell carcinoma(1967;0.00148)|BRCA - Breast invasive adenocarcinoma(304;0.00173)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.136)	3	916	-		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00131)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)	146			Runt.		B1AJV5|Q12969|Q13760	Silent	SNP	ENST00000308873.6	37	c.478C>A	CCDS257.1																																																																																				0.587	RUNX3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000009284.1	NM_004350		24	41	1	0	1.66031e-10	1	1.94171e-10	24	41					T	25254068	G	T	25254068	2	4	257	1	0	0	0	0	0	0	0	1	13749	1095	38	5		5	RUNX3	1	25254068	Silent	SNP	G	TCGA-HC-A9TH-01A-11D-A41K-08	2142944	25254068	223996553	2	12029											
CTBS	1486	broad.mit.edu	37	chr1	85029048	85029048	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcacctgacgtcctgcagcGtcactacaaggagccccccg	8	5	11	17	3	1	1	1	1	0	0	2	2	2	2	5	2	4	2	5	2	2	1	rs367692581		TCGA-HC-A9TH-01A-11D-A41K-08	TCGA-HC-A9TH-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3512f7-1306-483f-a744-ffefce67c8d2	8fae14ec-5bd1-4057-a5f4-a7ce7e45e5f3	g.chr1:85029048G>A	ENST00000370630.5	-	6	897	c.849C>T	c.(847-849)gaC>gaT	p.D283D	CTBS_ENST00000477677.1_5'UTR	NM_004388.2	NP_004379.1	Q01459	DIAC_HUMAN	chitobiase, di-N-acetyl-	283					chitin catabolic process (GO:0006032)|oligosaccharide catabolic process (GO:0009313)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	chitinase activity (GO:0004568)			breast(1)|endometrium(1)|large_intestine(4)|lung(2)|ovary(1)	9				all cancers(265;0.00727)|Epithelial(280;0.0192)|OV - Ovarian serous cystadenocarcinoma(397;0.166)		GTCCTGCAGCGTCACTACAAG	0.403																																						ENST00000370630.4																			0				breast(1)|endometrium(1)|large_intestine(4)|lung(2)|ovary(1)	9						c.(847-849)gaC>gaT		chitobiase, di-N-acetyl-		G		0,4404		0,0,2202	50	56	54		849	0.4	0	1		54	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	CTBS	NM_004388.2		0,1,6501	AA,AG,GG		0.0116,0.0,0.0077		283/386	85029048	1,13003	2202	4300	6502	SO:0001819	synonymous_variant	1486					lysosome	cation binding	g.chr1:85029048G>A	M95767	CCDS698.1	1p22	2010-05-04			ENSG00000117151	ENSG00000117151	3.2.1.-		2496	protein-coding gene	gene with protein product		600873		CTB		1549114, 7606925	Standard	NM_004388		Approved		uc001dka.2	Q01459	OTTHUMG00000009922	ENST00000370630.5:c.849C>T	1.37:g.85029048G>A						CTBS_ENST00000477677.1_5'UTR	p.D283D	NM_004388.2	NP_004379.1	Q01459	DIAC_HUMAN		all cancers(265;0.00727)|Epithelial(280;0.0192)|OV - Ovarian serous cystadenocarcinoma(397;0.166)	6	897	-			283					Q5VX50	Silent	SNP	ENST00000370630.5	37	c.849C>T	CCDS698.1																																																																																				0.403	CTBS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027457.2	NM_004388		27	30	0	0	0	1	0	27	30					A	85029048	G	A	85029048	2	1	257	1	0	0	0	0	0	0	0	1	3999	1136	40	1		1	CTBS	1	85029048	Silent	SNP	G	TCGA-HC-A9TH-01A-11D-A41K-08	59774980	85029048	164221573	3	12030											
INSRR	3645	broad.mit.edu	37	chr1	156811518	156811518	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcgggggccatccagcgcaCgggcagcagccccttcccac	6	4	12	19	3	0	0	0	0	0	0	3	0	2	0	5	3	3	3	5	3	0	1			TCGA-HC-A9TH-01A-11D-A41K-08	TCGA-HC-A9TH-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3512f7-1306-483f-a744-ffefce67c8d2	8fae14ec-5bd1-4057-a5f4-a7ce7e45e5f3	g.chr1:156811518C>T	ENST00000368195.3	-	20	3862	c.3466G>A	c.(3466-3468)Gtg>Atg	p.V1156M	NTRK1_ENST00000392302.2_Intron	NM_014215.2	NP_055030.1	P14616	INSRR_HUMAN	insulin receptor-related receptor	1156	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				actin cytoskeleton reorganization (GO:0031532)|cellular response to alkaline pH (GO:0071469)|male sex determination (GO:0030238)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein autophosphorylation (GO:0046777)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	42	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					ATCCAGCGCACGGGCAGCAGC	0.617																																						ENST00000368195.3																			0				breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	42						c.(3466-3468)Gtg>Atg		insulin receptor-related receptor							80	76	78					1																	156811518		2203	4300	6503	SO:0001583	missense	3645				protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|insulin receptor substrate binding|metal ion binding|phosphatidylinositol 3-kinase binding|transmembrane receptor protein tyrosine kinase activity	g.chr1:156811518C>T	J05046	CCDS1160.1	1q21-q23	2013-02-11			ENSG00000027644	ENSG00000027644		"Fibronectin type III domain containing"	6093	protein-coding gene	gene with protein product		147671				2768234, 2249481	Standard	NM_014215		Approved	IRR	uc010pht.2	P14616	OTTHUMG00000041291	ENST00000368195.3:c.3466G>A	1.37:g.156811518C>T	ENSP00000357178:p.Val1156Met					NTRK1_ENST00000392302.2_Intron	p.V1156M	NM_014215.2	NP_055030.1	P14616	INSRR_HUMAN			20	3862	-	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)		1156			Protein kinase.		O60724|Q5VZS3	Missense_Mutation	SNP	ENST00000368195.3	37	c.3466G>A	CCDS1160.1	.	.	.	.	.	.	.	.	.	.	C	24.6	4.548496	0.86127	.	.	ENSG00000027644	ENST00000368195	D	0.84589	-1.87	4.99	4.99	0.66335	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.41823	D	0.000816	D	0.91653	0.7362	.	.	.	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.92479	0.5991	9	0.87932	D	0	.	16.9908	0.86353	0.0:1.0:0.0:0.0	.	1156	P14616	INSRR_HUMAN	M	1156	ENSP00000357178:V1156M	ENSP00000357178:V1156M	V	-	1	0	INSRR	155078142	1.000000	0.71417	0.961000	0.40146	0.995000	0.86356	7.590000	0.82653	2.597000	0.87782	0.561000	0.74099	GTG		0.617	INSRR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098929.1	NM_014215		16	32	0	0	0	1	0	16	32					T	156811518	C	T	156811518	3	4	257	1	0	0	0	0	1	0	0	0	7774	536	19	1	438	1	INSRR	1	156811518	Missense_Mutation	SNP	C	TCGA-HC-A9TH-01A-11D-A41K-08	71782470	156811518	92439103	4	12031											
FMN2	56776	broad.mit.edu	37	chr1	240370979	240370979	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cggagcggcaataccccctcCgccccctcttcccggggcag	5	5	11	20	4	1	0	0	0	1	0	3	1	3	1	6	4	2	2	6	4	2	2			TCGA-HC-A9TH-01A-11D-A41K-08	TCGA-HC-A9TH-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3512f7-1306-483f-a744-ffefce67c8d2	8fae14ec-5bd1-4057-a5f4-a7ce7e45e5f3	g.chr1:240370979C>T	ENST00000319653.9	+	5	3097	c.2867C>T	c.(2866-2868)cCg>cTg	p.P956L		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	956	FH1.|Pro-rich.				cellular response to DNA damage stimulus (GO:0006974)|cellular response to hypoxia (GO:0071456)|establishment of meiotic spindle localization (GO:0051295)|formin-nucleated actin cable assembly (GO:0070649)|homologous chromosome movement towards spindle pole involved in homologous chromosome segregation (GO:0051758)|intracellular signal transduction (GO:0035556)|intracellular transport (GO:0046907)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein catabolic process (GO:0042177)|oogenesis (GO:0048477)|polar body extrusion after meiotic divisions (GO:0040038)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cell cortex (GO:0005938)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|microvillus (GO:0005902)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|spindle (GO:0005819)	actin binding (GO:0003779)	p.P1099L(2)		NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			ATACCCCCTCCGCCCCCTCTT	0.697																																						ENST00000319653.9																			2	Substitution - Missense(2)	p.P1099L(2)	endometrium(2)	NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178						c.(2866-2868)cCg>cTg		formin 2							21	24	23					1																	240370979		2203	4297	6500	SO:0001583	missense	56776				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding	g.chr1:240370979C>T	AF218942	CCDS31069.2	1q43	2008-02-05			ENSG00000155816	ENSG00000155816			14074	protein-coding gene	gene with protein product		606373				10781961	Standard	NM_020066		Approved		uc010pyd.2	Q9NZ56	OTTHUMG00000039883	ENST00000319653.9:c.2867C>T	1.37:g.240370979C>T	ENSP00000318884:p.Pro956Leu						p.P956L	NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0106)		5	3097	+	Ovarian(103;0.127)	all_cancers(173;0.013)	956			FH1.|Pro-rich.		B0QZA7|B4DP05|Q59GF6|Q5VU37|Q9NZ55	Missense_Mutation	SNP	ENST00000319653.9	37	c.2867C>T	CCDS31069.2	.	.	.	.	.	.	.	.	.	.	C	9.304	1.053750	0.19907	.	.	ENSG00000155816	ENST00000319653	T	0.65549	-0.16	3.8	2.84	0.33178	Actin-binding FH2/DRF autoregulatory (1);Formin Homology 1 (1);	.	.	.	.	T	0.65821	0.2728	M	0.90483	3.12	0.58432	D	0.999997	D	0.53745	0.962	B	0.42625	0.393	T	0.70103	-0.4964	8	.	.	.	.	7.8822	0.29629	0.1822:0.6411:0.1768:0.0	.	956	Q9NZ56	FMN2_HUMAN	L	956	ENSP00000318884:P956L	.	P	+	2	0	FMN2	238437602	0.020000	0.18652	0.004000	0.12327	0.007000	0.05969	2.977000	0.49297	0.928000	0.37168	0.472000	0.43445	CCG		0.697	FMN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096217.2	XM_371352		15	26	0	0	0	1	0	15	26					T	240370979	C	T	240370979	3	4	257	1	0	0	0	0	1	0	0	0	5950	652	23	2	2885	2	FMN2	1	240370979	Missense_Mutation	SNP	C	TCGA-HC-A9TH-01A-11D-A41K-08	83559461	240370979	8879642	5	12032											
LCT	3938	broad.mit.edu	37	chr2	136567459	136567459	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgctgtcgctgaagttgaCgtggtgcaggccaaaccgct	7	9	14	11	3	0	2	0	2	0	0	1	2	0	2	2	2	3	6	2	2	2	1			TCGA-HC-A9TH-01A-11D-A41K-08	TCGA-HC-A9TH-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3512f7-1306-483f-a744-ffefce67c8d2	8fae14ec-5bd1-4057-a5f4-a7ce7e45e5f3	g.chr2:136567459C>T	ENST00000264162.2	-	8	2468	c.2458G>A	c.(2458-2460)Gtc>Atc	p.V820I	Y_RNA_ENST00000363794.1_RNA	NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	820	4 X approximate repeats.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	glycosylceramidase activity (GO:0017042)|lactase activity (GO:0000016)			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)	Vitamin C(DB00126)	CTGAAGTTGACGTGGTGCAGG	0.507																																						ENST00000264162.2																			0				breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124						c.(2458-2460)Gtc>Atc		lactase							113	112	112					2																	136567459		2203	4300	6503	SO:0001583	missense	3938				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity	g.chr2:136567459C>T	X07994	CCDS2178.1	2q21	2014-09-17			ENSG00000115850	ENSG00000115850	3.2.1.108, 3.2.1.62		6530	protein-coding gene	gene with protein product		603202					Standard	NM_002299		Approved		uc002tuu.1	P09848	OTTHUMG00000131738	ENST00000264162.2:c.2458G>A	2.37:g.136567459C>T	ENSP00000264162:p.Val820Ile						p.V820I	NM_002299.2	NP_002290.2	P09848	LPH_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.169)	8	2468	-			820			4 X approximate repeats.		Q4ZG58	Missense_Mutation	SNP	ENST00000264162.2	37	c.2458G>A	CCDS2178.1	.	.	.	.	.	.	.	.	.	.	C	19.35	3.810152	0.70797	.	.	ENSG00000115850	ENST00000264162;ENST00000455227	T	0.47869	0.83	6.03	5.16	0.70880	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.061993	0.64402	D	0.000004	T	0.69369	0.3103	M	0.76938	2.355	0.50313	D	0.999862	D	0.89917	1.0	D	0.77004	0.989	T	0.73736	-0.3889	10	0.62326	D	0.03	-32.2178	15.393	0.74760	0.0:0.9336:0.0:0.0664	.	820	P09848	LPH_HUMAN	I	820;252	ENSP00000264162:V820I	ENSP00000264162:V820I	V	-	1	0	LCT	136283929	0.999000	0.42202	0.912000	0.35992	0.465000	0.32709	4.110000	0.57831	1.573000	0.49748	0.557000	0.71058	GTC		0.507	LCT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254657.1	NM_002299		5	72	0	0	0	1	0	5	72					T	136567459	C	T	136567459	3	4	257	1	0	0	0	0	1	0	0	0	8693	536	19	1	3365	1	LCT	2	136567459	Missense_Mutation	SNP	C	TCGA-HC-A9TH-01A-11D-A41K-08		136567459	106631914	6	12033											
XIRP2	129446	broad.mit.edu	37	chr2	168105160	168105160	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	caggaaaaaccggtgtgttgCcacctcccacattgcccaaa	12	7	8	14	1	0	0	0	0	0	0	1	1	1	1	5	2	3	1	5	2	3	2			TCGA-HC-A9TH-01A-11D-A41K-08	TCGA-HC-A9TH-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3512f7-1306-483f-a744-ffefce67c8d2	8fae14ec-5bd1-4057-a5f4-a7ce7e45e5f3	g.chr2:168105160C>A	ENST00000409195.1	+	9	7347	c.7258C>A	c.(7258-7260)Cca>Aca	p.P2420T	XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.P2420T|XIRP2_ENST00000409273.1_Missense_Mutation_p.P2198T|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409043.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	2245					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						CGGTGTGTTGCCACCTCCCAC	0.423																																						ENST00000409195.1																			0				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						c.(7258-7260)Cca>Aca		xin actin-binding repeat containing 2							75	78	77					2																	168105160		1844	4089	5933	SO:0001583	missense	129446				actin cytoskeleton organization	cell junction	actin binding	g.chr2:168105160C>A	AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"myomaxin"	609778	"cardiomyopathy associated 3"	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409195.1:c.7258C>A	2.37:g.168105160C>A	ENSP00000386840:p.Pro2420Thr					XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.P2198T|XIRP2_ENST00000295237.9_Missense_Mutation_p.P2420T|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409043.1_Intron	p.P2420T	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN			9	7347	+			2245					A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Missense_Mutation	SNP	ENST00000409195.1	37	c.7258C>A	CCDS42769.1	.	.	.	.	.	.	.	.	.	.	C	10.57	1.386010	0.25031	.	.	ENSG00000163092	ENST00000409195;ENST00000295237;ENST00000409273	T;T;T	0.02709	4.19;4.19;4.19	5.15	3.37	0.38596	.	0.592551	0.17825	N	0.160733	T	0.08980	0.0222	M	0.67953	2.075	0.37048	D	0.897446	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.997;0.999;0.999	T	0.43081	-0.9413	10	0.10377	T	0.69	-13.8675	6.3109	0.21164	0.3255:0.59:0.0:0.0845	.	2245;2245;2198	A4UGR9;A4UGR9-3;A4UGR9-2	XIRP2_HUMAN;.;.	T	2420;2420;2198	ENSP00000386840:P2420T;ENSP00000295237:P2420T;ENSP00000387255:P2198T	ENSP00000295237:P2420T	P	+	1	0	XIRP2	167813406	0.995000	0.38212	0.761000	0.31378	0.497000	0.33675	1.858000	0.39408	0.768000	0.33290	-0.127000	0.14921	CCA		0.423	XIRP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333547.1	NM_152381		13	43	1	0	9.31168e-06	1	1.01985e-05	13	43					A	168105160	C	A	168105160	3	1	257	1	0	0	0	0	1	0	0	0	17427	739	26	5	7288	5	XIRP2	2	168105160	Missense_Mutation	SNP	C	TCGA-HC-A9TH-01A-11D-A41K-08	31537701	168105160	75094213	7	12034											
TTN	7273	broad.mit.edu	37	chr2	179640923	179640923	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtaatggataccatcatagcGaactctgaaccttttgcttt	11	14	7	9	1	2	1	1	1	1	0	2	3	2	2	2	1	5	2	2	1	5	6	rs146496197	byFrequency	TCGA-HC-A9TH-01A-11D-A41K-08	TCGA-HC-A9TH-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3512f7-1306-483f-a744-ffefce67c8d2	8fae14ec-5bd1-4057-a5f4-a7ce7e45e5f3	g.chr2:179640923G>A	ENST00000591111.1	-	28	5892	c.5668C>T	c.(5668-5670)Cgc>Tgc	p.R1890C	TTN_ENST00000360870.5_Missense_Mutation_p.R1890C|TTN_ENST00000460472.2_Missense_Mutation_p.R1844C|TTN_ENST00000342175.6_Missense_Mutation_p.R1844C|TTN-AS1_ENST00000610005.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000584485.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.R1890C|TTN_ENST00000359218.5_Missense_Mutation_p.R1844C|TTN_ENST00000342992.6_Missense_Mutation_p.R1890C|RP11-88L24.4_ENST00000582038.2_RNA			Q8WZ42	TITIN_HUMAN	titin	12726	Ig-like 9.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.R1844C(3)|p.R1890C(2)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CCATCATAGCGAACTCTGAAC	0.498													G|||	3	0.000599042	0.0015	0.0014	5008	,	,		21337	0		0	False		,,,				2504	0					ENST00000589042.1																			5	Substitution - Missense(5)	p.R1844C(3)|p.R1890C(2)	skin(5)	NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(5668-5670)Cgc>Tgc		titin		G	CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG	10,4396	16.8+/-37.8	0,10,2193	290	263	272		5530,5668,5668,5530,5530	5.1	1	2	dbSNP_134	272	4,8596	3.0+/-9.4	0,4,4296	yes	missense,missense,missense,missense,missense	TTN	NM_003319.4,NM_133378.4,NM_133379.3,NM_133432.3,NM_133437.3	180,180,180,180,180	0,14,6489	AA,AG,GG		0.0465,0.227,0.1076	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	1844/26927,1890/33424,1890/5605,1844/27052,1844/27119	179640923	14,12992	2203	4300	6503	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179640923G>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.5668C>T	2.37:g.179640923G>A	ENSP00000465570:p.Arg1890Cys					TTN_ENST00000360870.5_Missense_Mutation_p.R1890C|TTN_ENST00000359218.5_Missense_Mutation_p.R1844C|TTN_ENST00000342992.6_Missense_Mutation_p.R1890C|TTN_ENST00000460472.2_Missense_Mutation_p.R1844C|TTN_ENST00000591111.1_Missense_Mutation_p.R1890C|TTN_ENST00000342175.6_Missense_Mutation_p.R1844C	p.R1890C	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		28	5892	-			1605			Ig-like 9.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.5668C>T		.	.	.	.	.	.	.	.	.	.	G	11.01	1.512460	0.27123	0.00227	4.65E-4	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127;ENST00000360870	T;T;T;T;T	0.68479	-0.33;-0.33;-0.33;-0.33;-0.33	5.1	5.1	0.69264	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.81465	0.4828	M	0.70842	2.15	0.41182	D	0.986243	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.74674	0.95;0.95;0.95;0.95;0.984	D	0.84082	0.0385	9	0.87932	D	0	.	18.5142	0.90930	0.0:0.0:1.0:0.0	.	1844;1844;1844;1890;1890	D3DPF9;E7EQE6;E7ET18;Q8WZ42;Q8WZ42-6	.;.;.;TITIN_HUMAN;.	C	1890;1844;1844;1844;1844;1890	ENSP00000343764:R1890C;ENSP00000434586:R1844C;ENSP00000340554:R1844C;ENSP00000352154:R1844C;ENSP00000354117:R1890C	ENSP00000340554:R1844C	R	-	1	0	TTN	179349168	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	7.879000	0.87236	2.385000	0.81259	0.609000	0.83330	CGC		0.498	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		61	134	0	0	0	1	0	61	134					A	179640923	G	A	179640923	3	1	257	1	0	0	0	0	1	0	0	0	16732	1058	37	2	105660	2	TTN	2	179640923	Missense_Mutation	SNP	G	TCGA-HC-A9TH-01A-11D-A41K-08	11535763	179640923	63558450	8	12035											
ERBB4	2066	broad.mit.edu	37	chr2	212295693	212295693	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcctccatcagcattgtactCtttttcatctccttccaaga	8	16	3	14	0	4	1	2	0	2	1	8	1	7	1	4	0	2	2	4	0	2	5			TCGA-HC-A9TH-01A-11D-A41K-08	TCGA-HC-A9TH-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3512f7-1306-483f-a744-ffefce67c8d2	8fae14ec-5bd1-4057-a5f4-a7ce7e45e5f3	g.chr2:212295693C>T	ENST00000342788.4	-	21	2930	c.2620G>A	c.(2620-2622)Gag>Aag	p.E874K	ERBB4_ENST00000436443.1_Missense_Mutation_p.E874K|ERBB4_ENST00000402597.1_Missense_Mutation_p.E864K	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	874	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cardiac muscle tissue regeneration (GO:0061026)|cell fate commitment (GO:0045165)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system morphogenesis (GO:0021551)|embryonic pattern specification (GO:0009880)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|lactation (GO:0007595)|mammary gland alveolus development (GO:0060749)|mammary gland epithelial cell differentiation (GO:0060644)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|neurotrophin TRK receptor signaling pathway (GO:0048011)|olfactory bulb interneuron differentiation (GO:0021889)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of STAT protein import into nucleus (GO:2000366)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|regulation of cell migration (GO:0030334)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	basolateral plasma membrane (GO:0016323)|cytosol (GO:0005829)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|epidermal growth factor receptor binding (GO:0005154)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transcription regulatory region DNA binding (GO:0044212)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)	Afatinib(DB08916)	GCATTGTACTCTTTTTCATCT	0.373										TSP Lung(8;0.080)																												ENST00000342788.4																			0				NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179						c.(2620-2622)Gag>Aag		v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4							147	139	142					2																	212295693		2203	4300	6503	SO:0001583	missense	2066				cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity	g.chr2:212295693C>T	L07868	CCDS2394.1, CCDS42811.1	2q33.3-q34	2013-10-11	2013-07-09		ENSG00000178568	ENSG00000178568			3432	protein-coding gene	gene with protein product		600543	"v-erb-a avian erythroblastic leukemia viral oncogene homolog-like 4"			7700649, 17018285	Standard	NM_001042599		Approved	ALS19	uc002veg.1	Q15303	OTTHUMG00000133012	ENST00000342788.4:c.2620G>A	2.37:g.212295693C>T	ENSP00000342235:p.Glu874Lys	TSP Lung(8;0.080)				ERBB4_ENST00000436443.1_Missense_Mutation_p.E874K|ERBB4_ENST00000402597.1_Missense_Mutation_p.E864K	p.E874K	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)	21	2930	-		Renal(323;0.06)|Lung NSC(271;0.197)	874			Protein kinase.		B7ZLD7|B7ZLE2|B7ZLE3|Q2M1W1|Q59EW4	Missense_Mutation	SNP	ENST00000342788.4	37	c.2620G>A	CCDS2394.1	.	.	.	.	.	.	.	.	.	.	C	17.64	3.439090	0.63067	.	.	ENSG00000178568	ENST00000342788;ENST00000436443;ENST00000402597	D;D;D	0.82433	-1.61;-1.61;-1.61	5.19	5.19	0.71726	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.86920	0.6049	L	0.31526	0.94	0.80722	D	1	D;P;D;D	0.76494	0.999;0.898;0.999;0.999	D;B;D;D	0.81914	0.992;0.371;0.992;0.995	D	0.88009	0.2761	10	0.59425	D	0.04	.	19.0631	0.93100	0.0:1.0:0.0:0.0	.	864;864;874;874	Q15303-4;Q15303-2;Q15303-3;Q15303	.;.;.;ERBB4_HUMAN	K	874;874;864	ENSP00000342235:E874K;ENSP00000403204:E874K;ENSP00000385565:E864K	ENSP00000342235:E874K	E	-	1	0	ERBB4	212003938	1.000000	0.71417	1.000000	0.80357	0.028000	0.11728	7.747000	0.85070	2.565000	0.86533	0.563000	0.77884	GAG		0.373	ERBB4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256597.1	NM_001042599		35	59	0	0	0	1	0	35	59					T	212295693	C	T	212295693	3	4	257	1	0	0	0	0	1	0	0	0	5209	922	32	3	1338	3	ERBB4	2	212295693	Missense_Mutation	SNP	C	TCGA-HC-A9TH-01A-11D-A41K-08	32654770	212295693	30903680	9	12036											
RFTN1	23180	broad.mit.edu	37	chr3	16358450	16358450	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ccagggccctgctgtggctgGcaggaccattctgcacagcc	6	7	13	15	0	1	0	0	0	1	0	1	1	1	1	4	4	3	4	4	4	0	1			TCGA-HC-A9TH-01A-11D-A41K-08	TCGA-HC-A9TH-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3512f7-1306-483f-a744-ffefce67c8d2	8fae14ec-5bd1-4057-a5f4-a7ce7e45e5f3	g.chr3:16358450G>A	ENST00000334133.4	-	10	1894	c.1622C>T	c.(1621-1623)gCc>gTc	p.A541V	OXNAD1_ENST00000544043.1_Intron|RP11-415F23.2_ENST00000607464.1_RNA|RFTN1_ENST00000432519.1_Missense_Mutation_p.A505V|OXNAD1_ENST00000435829.2_Intron|OXNAD1_ENST00000605932.1_Intron|RFTN1_ENST00000483671.1_5'UTR|OXNAD1_ENST00000606098.1_Intron	NM_015150.1	NP_055965.1	Q14699	RFTN1_HUMAN	raftlin, lipid raft linker 1	541					B cell receptor signaling pathway (GO:0050853)|dsRNA transport (GO:0033227)|growth (GO:0040007)|interleukin-17 production (GO:0032620)|membrane raft assembly (GO:0001765)|protein localization to membrane raft (GO:1903044)|protein transport into membrane raft (GO:0032596)|response to exogenous dsRNA (GO:0043330)|T cell antigen processing and presentation (GO:0002457)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 3 signaling pathway (GO:0034138)	cytoplasm (GO:0005737)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	double-stranded RNA binding (GO:0003725)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(8)|lung(8)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	38						GCTGTGGCTGGCAGGACCATT	0.622																																						ENST00000334133.4																			0				central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(8)|lung(8)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	38						c.(1621-1623)gCc>gTc		raftlin, lipid raft linker 1							97	95	95					3																	16358450		2203	4300	6503	SO:0001583	missense	23180					plasma membrane		g.chr3:16358450G>A	D42043	CCDS33712.1	3p24.3	2010-04-09			ENSG00000131378	ENSG00000131378			30278	protein-coding gene	gene with protein product	"raft-linking protein"					7788527, 12805216	Standard	NM_015150		Approved	MIG2, KIAA0084, FLJ23866, Raftlin	uc003cay.3	Q14699	OTTHUMG00000156973	ENST00000334133.4:c.1622C>T	3.37:g.16358450G>A	ENSP00000334153:p.Ala541Val					RFTN1_ENST00000432519.1_Missense_Mutation_p.A505V|OXNAD1_ENST00000606098.1_Intron|OXNAD1_ENST00000605932.1_Intron|RFTN1_ENST00000483671.1_5'UTR|OXNAD1_ENST00000544043.1_Intron|OXNAD1_ENST00000435829.2_Intron	p.A541V	NM_015150.1	NP_055965.1	Q14699	RFTN1_HUMAN			10	1894	-			541					Q0D2G0|Q496Y2|Q4QQI7|Q5JB48|Q7Z7P2	Missense_Mutation	SNP	ENST00000334133.4	37	c.1622C>T	CCDS33712.1	.	.	.	.	.	.	.	.	.	.	G	17.29	3.351808	0.61183	.	.	ENSG00000131378	ENST00000432519;ENST00000334133	T;T	0.37915	1.17;1.22	4.78	2.82	0.32997	.	0.617158	0.15070	N	0.282277	T	0.29976	0.0750	L	0.44542	1.39	0.19775	N	0.999959	P;P	0.40731	0.728;0.728	B;B	0.40901	0.343;0.23	T	0.16335	-1.0406	10	0.72032	D	0.01	-10.3005	6.4297	0.21790	0.1009:0.1832:0.7159:0.0	.	505;541	G3XAJ6;Q14699	.;RFTN1_HUMAN	V	505;541	ENSP00000403926:A505V;ENSP00000334153:A541V	ENSP00000334153:A541V	A	-	2	0	RFTN1	16333454	0.008000	0.16893	0.003000	0.11579	0.005000	0.04900	0.717000	0.25851	1.126000	0.42016	0.563000	0.77884	GCC		0.622	RFTN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000346908.1	NM_015150		4	86	0	0	0	1	0	4	86					A	16358450	G	A	16358450	3	1	257	1	0	0	0	0	1	0	0	0	13258	1203	42	3	118	3	RFTN1	3	16358450	Missense_Mutation	SNP	G	TCGA-HC-A9TH-01A-11D-A41K-08		16358450	181663980	10	12037											
IGSF10	285313	broad.mit.edu	37	chr3	151166465	151166465	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cagttctgttcagctgcaagGaaatttggtcttgcattaac	10	14	9	8	0	3	0	1	0	2	0	3	1	3	1	0	2	4	5	0	2	3	5			TCGA-HC-A9TH-01A-11D-A41K-08	TCGA-HC-A9TH-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3512f7-1306-483f-a744-ffefce67c8d2	8fae14ec-5bd1-4057-a5f4-a7ce7e45e5f3	g.chr3:151166465G>T	ENST00000282466.3	-	4	1303	c.1304C>A	c.(1303-1305)tCc>tAc	p.S435Y		NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	435					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)	extracellular region (GO:0005576)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			CAGCTGCAAGGAAATTTGGTC	0.438																																						ENST00000282466.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116						c.(1303-1305)tCc>tAc		immunoglobulin superfamily, member 10							128	116	120					3																	151166465		2203	4300	6503	SO:0001583	missense	285313				cell differentiation|multicellular organismal development|ossification	extracellular region		g.chr3:151166465G>T	AY273815	CCDS3160.1	3q25.1	2013-01-11			ENSG00000152580	ENSG00000152580		"Immunoglobulin superfamily / I-set domain containing"	26384	protein-coding gene	gene with protein product						12477932	Standard	NM_178822		Approved	FLJ25972, CMF608	uc011bod.2	Q6WRI0	OTTHUMG00000159856	ENST00000282466.3:c.1304C>A	3.37:g.151166465G>T	ENSP00000282466:p.Ser435Tyr						p.S435Y	NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)		4	1303	-			435					Q86YJ9|Q8N772|Q8NA84	Missense_Mutation	SNP	ENST00000282466.3	37	c.1304C>A	CCDS3160.1	.	.	.	.	.	.	.	.	.	.	G	0.008	-1.864961	0.00547	.	.	ENSG00000152580	ENST00000282466	T	0.70631	-0.5	5.08	1.22	0.21188	.	0.727222	0.11878	N	0.520756	T	0.59998	0.2235	M	0.62723	1.935	0.09310	N	1	P	0.41947	0.766	B	0.37304	0.246	T	0.48222	-0.9054	10	0.08381	T	0.77	.	8.823	0.35039	0.4506:0.0:0.5494:0.0	.	435	Q6WRI0	IGS10_HUMAN	Y	435	ENSP00000282466:S435Y	ENSP00000282466:S435Y	S	-	2	0	IGSF10	152649155	0.001000	0.12720	0.029000	0.17559	0.761000	0.43186	1.038000	0.30254	0.174000	0.19809	-0.300000	0.09419	TCC		0.438	IGSF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357782.1	NM_178822		9	38	1	0	0.0477658	1	0.0477658	9	38					T	151166465	G	T	151166465	3	4	257	1	0	0	0	0	1	0	0	0	7597	1174	41	5	6627	5	IGSF10	3	151166465	Missense_Mutation	SNP	G	TCGA-HC-A9TH-01A-11D-A41K-08	134808015	151166465	46855965	11	12038											
SAMD7	344658	broad.mit.edu	37	chr3	169644361	169644361	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gacagaaatggaaatgtatgCtatttaccagcaaaggagaa	18	8	10	5	0	0	2	0	0	0	2	0	5	0	3	1	2	3	3	1	2	7	4			TCGA-HC-A9TH-01A-11D-A41K-08	TCGA-HC-A9TH-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3512f7-1306-483f-a744-ffefce67c8d2	8fae14ec-5bd1-4057-a5f4-a7ce7e45e5f3	g.chr3:169644361C>T	ENST00000428432.2	+	6	700	c.311C>T	c.(310-312)gCt>gTt	p.A104V	SAMD7_ENST00000335556.3_Missense_Mutation_p.A104V	NM_182610.2	NP_872416.1	Q7Z3H4	SAMD7_HUMAN	sterile alpha motif domain containing 7	104										NS(1)|biliary_tract(1)|breast(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	31	all_cancers(22;1.55e-22)|all_epithelial(15;2.41e-27)|all_lung(20;3.52e-17)|Lung NSC(18;1.44e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0106)			GAAATGTATGCTATTTACCAG	0.408																																						ENST00000428432.2																			0				NS(1)|biliary_tract(1)|breast(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	31						c.(310-312)gCt>gTt		sterile alpha motif domain containing 7							41	44	43					3																	169644361		2203	4300	6503	SO:0001583	missense	344658							g.chr3:169644361C>T	BX537903	CCDS3209.1	3q26.31	2013-01-10			ENSG00000187033	ENSG00000187033		"Sterile alpha motif (SAM) domain containing"	25394	protein-coding gene	gene with protein product							Standard	NM_182610		Approved	DKFZp686E1583	uc003fgd.3	Q7Z3H4	OTTHUMG00000158730	ENST00000428432.2:c.311C>T	3.37:g.169644361C>T	ENSP00000391299:p.Ala104Val					SAMD7_ENST00000335556.3_Missense_Mutation_p.A104V	p.A104V	NM_182610.2	NP_872416.1	Q7Z3H4	SAMD7_HUMAN	Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0106)		6	700	+	all_cancers(22;1.55e-22)|all_epithelial(15;2.41e-27)|all_lung(20;3.52e-17)|Lung NSC(18;1.44e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		104						Missense_Mutation	SNP	ENST00000428432.2	37	c.311C>T	CCDS3209.1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.399828	0.83120	.	.	ENSG00000187033	ENST00000428432;ENST00000335556	T;T	0.56275	0.47;0.47	6.1	6.1	0.99115	.	0.165807	0.52532	D	0.000064	T	0.59183	0.2175	L	0.53249	1.67	0.42632	D	0.993381	D	0.65815	0.995	P	0.48304	0.573	T	0.57774	-0.7753	10	0.45353	T	0.12	-8.409	20.3097	0.98641	0.0:1.0:0.0:0.0	.	104	Q7Z3H4	SAMD7_HUMAN	V	104	ENSP00000391299:A104V;ENSP00000334668:A104V	ENSP00000334668:A104V	A	+	2	0	SAMD7	171127055	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	5.756000	0.68757	2.902000	0.99343	0.650000	0.86243	GCT		0.408	SAMD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351959.1	NM_182610		4	44	0	0	0	1	0	4	44					T	169644361	C	T	169644361	3	4	257	1	0	0	0	0	1	0	0	0	13824	797	28	3	325	3	SAMD7	3	169644361	Missense_Mutation	SNP	C	TCGA-HC-A9TH-01A-11D-A41K-08	18477896	169644361	28378069	12	12039											
PIK3CA	5290	broad.mit.edu	37	chr3	178952085	178952085	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaacaaatgaatgatgcacAtcatggtggctggacaacaa	17	7	10	7	0	1	2	1	2	0	0	1	4	1	3	0	3	3	2	0	3	5	0	rs121913279		TCGA-HC-A9TH-01A-11D-A41K-08	TCGA-HC-A9TH-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3512f7-1306-483f-a744-ffefce67c8d2	8fae14ec-5bd1-4057-a5f4-a7ce7e45e5f3	g.chr3:178952085A>G	ENST00000263967.3	+	21	3297	c.3140A>G	c.(3139-3141)cAt>cGt	p.H1047R	RP11-245C23.3_ENST00000609807.1_RNA	NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	1047	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.		H -> L (in BC; unknown pathological significance). {ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16353168}.|H -> R (in CLOVE, KERSEB, CRC, BC and OC; also found in an endometrial carcinoma sample; shows an increase in lipid kinase activity; oncogenic in vivo; requires binding to p85 regulatory subunit to induce cellular transformation but not interaction with RAS; may mimic the conformatitonal change triggered by the interaction with RAS; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells; increases lipid kinase activity; may alter the interaction of the PI3K/ PI4K kinase domain with the cell membrane). {ECO:0000269|PubMed:15016963, ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15712344, ECO:0000269|PubMed:15784156, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16114017, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:16353168, ECO:0000269|PubMed:16533766, ECO:0000269|PubMed:17673550, ECO:0000269|PubMed:22658544}.|H -> Y (in MCAP; also found in an endometrial carcinoma sample). {ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:22729224}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.H1047R(1387)|p.H1047L(194)|p.H1047P(1)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	AATGATGCACATCATGGTGGC	0.378	H1047L(EFM19_BREAST)|H1047R(BT20_BREAST)|H1047R(CAL29_URINARY_TRACT)|H1047R(CAL33_UPPER_AERODIGESTIVE_TRACT)|H1047R(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|H1047R(HCC1954_BREAST)|H1047R(HCT116_LARGE_INTESTINE)|H1047R(HSC2_UPPER_AERODIGESTIVE_TRACT)|H1047R(LS180_LARGE_INTESTINE)|H1047R(MCAS_OVARY)|H1047R(MDAMB453_BREAST)|H1047R(NCIH1048_LUNG)|H1047R(RKO_LARGE_INTESTINE)|H1047R(SKOV3_OVARY)|H1047R(T47D_BREAST)	57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	ENST00000263967.3	H1047L(EFM19_BREAST)|H1047R(BT20_BREAST)|H1047R(CAL29_URINARY_TRACT)|H1047R(CAL33_UPPER_AERODIGESTIVE_TRACT)|H1047R(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|H1047R(HCC1954_BREAST)|H1047R(HCT116_LARGE_INTESTINE)|H1047R(HSC2_UPPER_AERODIGESTIVE_TRACT)|H1047R(LS180_LARGE_INTESTINE)|H1047R(MCAS_OVARY)|H1047R(MDAMB453_BREAST)|H1047R(NCIH1048_LUNG)|H1047R(RKO_LARGE_INTESTINE)|H1047R(SKOV3_OVARY)|H1047R(T47D_BREAST)	57		Dom	yes		3	3q26.3	5290	Mis	"phosphoinositide-3-kinase, catalytic, alpha polypeptide"			"E, O"			"colorectal, gastric, gliobastoma, breast"		1582	Substitution - Missense(1582)	p.H1047R(1387)|p.H1047L(194)|p.H1047P(1)	breast(961)|large_intestine(245)|endometrium(114)|ovary(77)|urinary_tract(36)|upper_aerodigestive_tract(26)|lung(19)|central_nervous_system(19)|stomach(19)|haematopoietic_and_lymphoid_tissue(11)|thyroid(10)|NS(9)|liver(7)|kidney(6)|soft_tissue(6)|skin(4)|prostate(4)|pituitary(3)|pancreas(3)|meninges(1)|cervix(1)|bone(1)	NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269						c.(3139-3141)cAt>cGt		phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha							99	89	92					3																	178952085		1912	4130	6042	SO:0001583	missense	5290				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	g.chr3:178952085A>G		CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"phosphoinositide-3-kinase, catalytic, alpha polypeptide"			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.3140A>G	3.37:g.178952085A>G	ENSP00000263967:p.His1047Arg	HNSCC(19;0.045)|TSP Lung(28;0.18)					p.H1047R	NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		21	3297	+	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		1047		H -> L (in cancer).|H -> R (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; requires binding to p85 regulatory subunit to induce cellular transformation but not interaction with RAS; may mimic the conformatitonal change triggered by the interaction with RAS; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells; increases lipid kinase activity; may alter the interaction of the PI3K/ PI4K kinase domain with the cell membrane).|H -> Y (in cancer).	PI3K/PI4K.		Q14CW1|Q99762	Missense_Mutation	SNP	ENST00000263967.3	37	c.3140A>G	CCDS43171.1	.	.	.	.	.	.	.	.	.	.	A	14.34	2.506328	0.44558	.	.	ENSG00000121879	ENST00000263967	T	0.80214	-1.35	6.08	6.08	0.98989	Protein kinase-like domain (1);Phosphatidylinositol 3-/4-kinase, catalytic (3);	0.000000	0.85682	D	0.000000	T	0.62466	0.2430	N	0.08118	0	0.80722	D	1	P	0.38597	0.639	B	0.28011	0.085	T	0.67526	-0.5648	10	0.40728	T	0.16	-21.2893	16.6512	0.85203	1.0:0.0:0.0:0.0	.	1047	P42336	PK3CA_HUMAN	R	1047	ENSP00000263967:H1047R	ENSP00000263967:H1047R	H	+	2	0	PIK3CA	180434779	1.000000	0.71417	0.996000	0.52242	0.998000	0.95712	8.859000	0.92264	2.333000	0.79357	0.482000	0.46254	CAT		0.378	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2			14	29	0	0	0	1	0	14	29					G	178952085	A	G	178952085	3	3	257	1	0	0	0	0	1	0	0	0	11913	217	8	4	3218	4	PIK3CA	3	178952085	Missense_Mutation	SNP	A	TCGA-HC-A9TH-01A-11D-A41K-08	9307724	178952085	19070345	13	12040											
LRRC15	131578	broad.mit.edu	37	chr3	194080647	194080647	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccctgggagctgtctgaggcGgttgttctgcagggagatgt	5	11	17	8	1	2	2	0	1	2	1	2	4	2	3	1	4	2	4	1	4	0	2	rs530171790		TCGA-HC-A9TH-01A-11D-A41K-08	TCGA-HC-A9TH-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3512f7-1306-483f-a744-ffefce67c8d2	8fae14ec-5bd1-4057-a5f4-a7ce7e45e5f3	g.chr3:194080647G>A	ENST00000347624.3	-	2	1211	c.1126C>T	c.(1126-1128)Cgc>Tgc	p.R376C	LRRC15_ENST00000439944.2_Missense_Mutation_p.R382C|LRRC15_ENST00000428839.1_Missense_Mutation_p.R382C	NM_130830.4	NP_570843.2	Q8TF66	LRC15_HUMAN	leucine rich repeat containing 15	376					negative regulation of establishment of protein localization to plasma membrane (GO:0090005)|positive regulation of cell migration (GO:0030335)|receptor-mediated virion attachment to host cell (GO:0046813)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	collagen binding (GO:0005518)|fibronectin binding (GO:0001968)|laminin binding (GO:0043236)			biliary_tract(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(20)|ovary(4)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	all_cancers(143;5.31e-09)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.94e-05)		TGTCTGAGGCGGTTGTTCTGC	0.587													G|||	1	0.000199681	0	0	5008	,	,		20433	0.001		0	False		,,,				2504	0					ENST00000347624.3																			0				biliary_tract(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(20)|ovary(4)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						c.(1126-1128)Cgc>Tgc		leucine rich repeat containing 15							61	59	60					3																	194080647		2203	4300	6503	SO:0001583	missense	131578					integral to membrane		g.chr3:194080647G>A	AB071037	CCDS3306.1, CCDS46984.1	3q29	2008-02-05			ENSG00000172061	ENSG00000172061			20818	protein-coding gene	gene with protein product						12923058	Standard	NM_001135057		Approved	LIB	uc003ftu.3	Q8TF66	OTTHUMG00000156048	ENST00000347624.3:c.1126C>T	3.37:g.194080647G>A	ENSP00000306276:p.Arg376Cys					LRRC15_ENST00000428839.1_Missense_Mutation_p.R382C|LRRC15_ENST00000439944.2_Missense_Mutation_p.R382C	p.R376C	NM_130830.4	NP_570843.2	Q8TF66	LRC15_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.94e-05)	2	1211	-	all_cancers(143;5.31e-09)|Ovarian(172;0.0634)		376					Q495Q6|Q7RTN7	Missense_Mutation	SNP	ENST00000347624.3	37	c.1126C>T	CCDS3306.1	.	.	.	.	.	.	.	.	.	.	G	17.42	3.384715	0.61845	.	.	ENSG00000172061	ENST00000347624;ENST00000439944;ENST00000428839	T;T;T	0.60672	0.17;0.17;0.17	5.01	4.07	0.47477	.	0.605862	0.15985	N	0.235129	T	0.67277	0.2876	M	0.67700	2.07	0.50632	D	0.999882	D;D	0.67145	0.996;0.987	P;P	0.57283	0.817;0.629	T	0.64241	-0.6454	10	0.33141	T	0.24	.	12.4989	0.55944	0.0:0.0:0.7088:0.2912	.	376;382	Q8TF66;Q8TF66-2	LRC15_HUMAN;.	C	376;382;382	ENSP00000306276:R376C;ENSP00000389128:R382C;ENSP00000413707:R382C	ENSP00000306276:R376C	R	-	1	0	LRRC15	195561942	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	2.587000	0.46128	2.500000	0.84329	0.655000	0.94253	CGC		0.587	LRRC15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342858.2			11	30	0	0	0	1	0	11	30					A	194080647	G	A	194080647	3	1	257	1	0	0	0	0	1	0	0	0	8970	1116	39	2	623	2	LRRC15	3	194080647	Missense_Mutation	SNP	G	TCGA-HC-A9TH-01A-11D-A41K-08	15128562	194080647	3941783	14	12041											
TADA2B	93624	broad.mit.edu	37	chr4	7056396	7056396	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caagatccgagaactgcagcGgtaccggcgaaacgggatca	13	4	13	11	5	1	2	1	0	0	2	2	5	2	3	2	3	5	2	2	3	4	1			TCGA-HC-A9TH-01A-11D-A41K-08	TCGA-HC-A9TH-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3512f7-1306-483f-a744-ffefce67c8d2	8fae14ec-5bd1-4057-a5f4-a7ce7e45e5f3	g.chr4:7056396G>A	ENST00000310074.7	+	2	1067	c.878G>A	c.(877-879)cGg>cAg	p.R293Q	TADA2B_ENST00000515646.1_Missense_Mutation_p.R201Q|TADA2B_ENST00000512388.1_Missense_Mutation_p.R218Q	NM_152293.2	NP_689506.2	Q86TJ2	TAD2B_HUMAN	transcriptional adaptor 2B	293					chromatin organization (GO:0006325)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	SAGA-type complex (GO:0070461)|STAGA complex (GO:0030914)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(3)|endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)	18						GAACTGCAGCGGTACCGGCGA	0.522																																						ENST00000310074.7																			0				breast(3)|endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)	18						c.(877-879)cGg>cAg		transcriptional adaptor 2B							43	50	48					4																	7056396		1997	4161	6158	SO:0001583	missense	93624				regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|zinc ion binding	g.chr4:7056396G>A	AK026299	CCDS47007.1	4p16.1	2009-10-02			ENSG00000173011	ENSG00000173011			30781	protein-coding gene	gene with protein product		608790				12972612, 18936164	Standard	NM_152293		Approved	MGC21874	uc003gjw.4	Q86TJ2	OTTHUMG00000159983	ENST00000310074.7:c.878G>A	4.37:g.7056396G>A	ENSP00000308022:p.Arg293Gln					TADA2B_ENST00000512388.1_Missense_Mutation_p.R218Q|TADA2B_ENST00000515646.1_Missense_Mutation_p.R201Q	p.R293Q	NM_152293.2	NP_689506.2	Q86TJ2	TAD2B_HUMAN			2	1067	+			293					A0AUJ8|A4QMR7|B3KSN0|B3KU86|Q6MZG9	Missense_Mutation	SNP	ENST00000310074.7	37	c.878G>A	CCDS47007.1	.	.	.	.	.	.	.	.	.	.	G	35	5.425042	0.96131	.	.	ENSG00000173011	ENST00000310074;ENST00000512388;ENST00000515646	T;T;T	0.39056	1.1;1.1;1.1	4.96	4.96	0.65561	.	.	.	.	.	T	0.62417	0.2426	M	0.66939	2.045	0.80722	D	1	D;D	0.89917	1.0;1.0	D;P	0.65443	0.935;0.866	T	0.63945	-0.6522	9	0.48119	T	0.1	-37.0971	18.2471	0.89989	0.0:0.0:1.0:0.0	.	218;293	Q86TJ2-2;Q86TJ2	.;TAD2B_HUMAN	Q	293;218;201	ENSP00000308022:R293Q;ENSP00000423947:R218Q;ENSP00000423181:R201Q	ENSP00000308022:R293Q	R	+	2	0	TADA2B	7107297	1.000000	0.71417	0.950000	0.38849	0.982000	0.71751	8.715000	0.91416	2.307000	0.77673	0.561000	0.74099	CGG		0.522	TADA2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358687.2	NM_152293		6	14	0	0	0	1	0	6	14					A	7056396	G	A	7056396	3	1	257	1	0	0	0	0	1	0	0	0	15508	1116	39	2	884	2	TADA2B	4	7056396	Missense_Mutation	SNP	G	TCGA-HC-A9TH-01A-11D-A41K-08		7056396	184097880	15	12042											
TLR1	7096	broad.mit.edu	37	chr4	38798378	38798378	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gagacaaaacaaagatggacTtgtaactcttctcaatgcag	16	9	8	8	0	2	2	1	0	2	2	3	4	2	3	0	1	3	2	0	1	5	3			TCGA-HC-A9TH-01A-11D-A41K-08	TCGA-HC-A9TH-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3512f7-1306-483f-a744-ffefce67c8d2	8fae14ec-5bd1-4057-a5f4-a7ce7e45e5f3	g.chr4:38798378T>G	ENST00000502213.2	-	3	2304	c.2075A>C	c.(2074-2076)aAg>aCg	p.K692T	TLR1_ENST00000510552.1_5'Flank|TLR1_ENST00000308979.2_Missense_Mutation_p.K692T			Q15399	TLR1_HUMAN	toll-like receptor 1	692	TIR. {ECO:0000255|PROSITE- ProRule:PRU00204}.				cellular response to triacyl bacterial lipopeptide (GO:0071727)|detection of triacyl bacterial lipopeptide (GO:0042495)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|macrophage activation (GO:0042116)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of interleukin-6 biosynthetic process (GO:0045410)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|regulation of cytokine secretion (GO:0050707)|signal transduction (GO:0007165)|toll-like receptor 1 signaling pathway (GO:0034130)	cytoplasmic vesicle (GO:0031410)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|Toll-like receptor 1-Toll-like receptor 2 protein complex (GO:0035354)	protein heterodimerization activity (GO:0046982)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(2)	28						AAAGATGGACTTGTAACTCTT	0.403																																					GBM(5;216 373 40795 46382)	ENST00000308979.2																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(2)	28						c.(2074-2076)aAg>aCg		toll-like receptor 1							185	175	178					4																	38798378		2203	4300	6503	SO:0001583	missense	7096				cellular response to triacyl bacterial lipopeptide|detection of triacyl bacterial lipopeptide|inflammatory response|innate immune response|macrophage activation|positive regulation of interleukin-6 biosynthetic process|positive regulation of tumor necrosis factor biosynthetic process	integral to plasma membrane|phagocytic vesicle membrane|Toll-like receptor 1-Toll-like receptor 2 protein complex	protein heterodimerization activity|transmembrane receptor activity	g.chr4:38798378T>G	U88540	CCDS33973.1	4p14	2008-02-05				ENSG00000174125		"CD molecules"	11847	protein-coding gene	gene with protein product		601194				9435236, 7584026	Standard	NM_003263		Approved	rsc786, KIAA0012, CD281	uc003gtl.3	Q15399		ENST00000502213.2:c.2075A>C	4.37:g.38798378T>G	ENSP00000421259:p.Lys692Thr					TLR1_ENST00000502213.2_Missense_Mutation_p.K692T	p.K692T	NM_003263.3	NP_003254.2	Q15399	TLR1_HUMAN			4	2348	-			692			TIR.		D1CS39|D1CS41|O15452|Q32MK3|Q32MK4|Q9UG90	Missense_Mutation	SNP	ENST00000502213.2	37	c.2075A>C	CCDS33973.1	.	.	.	.	.	.	.	.	.	.	T	18.99	3.740652	0.69304	.	.	ENSG00000174125	ENST00000308979;ENST00000502213	T;T	0.08896	3.04;3.04	5.2	5.2	0.72013	Toll/interleukin-1 receptor homology (TIR) domain (4);	0.000000	0.64402	D	0.000005	T	0.35595	0.0937	M	0.89163	3.01	0.47698	D	0.999493	D	0.76494	0.999	D	0.87578	0.998	T	0.38607	-0.9653	10	0.87932	D	0	.	15.3625	0.74492	0.0:0.0:0.0:1.0	.	692	Q15399	TLR1_HUMAN	T	692	ENSP00000354932:K692T;ENSP00000421259:K692T	ENSP00000354932:K692T	K	-	2	0	TLR1	38474773	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.744000	0.55112	2.103000	0.63969	0.460000	0.39030	AAG		0.403	TLR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360510.3			14	136	0	0	0	1	0	14	136					G	38798378	T	G	38798378	3	3	257	1	0	0	0	0	1	0	0	0	15946	1609	56	5	289	5	TLR1	4	38798378	Missense_Mutation	SNP	T	TCGA-HC-A9TH-01A-11D-A41K-08	31741982	38798378	152355898	16	12043											
PDGFRA	5156	broad.mit.edu	37	chr4	55141137	55141137	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttccaagagatggactagtgCttggtaagttccatggggta	10	12	13	6	0	0	1	0	0	0	1	2	3	2	2	2	4	1	4	2	4	4	6			TCGA-HC-A9TH-01A-11D-A41K-08	TCGA-HC-A9TH-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3512f7-1306-483f-a744-ffefce67c8d2	8fae14ec-5bd1-4057-a5f4-a7ce7e45e5f3	g.chr4:55141137C>T	ENST00000257290.5	+	12	2114	c.1783C>T	c.(1783-1785)Ctt>Ttt	p.L595F	FIP1L1_ENST00000507166.1_Missense_Mutation_p.L355F	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor, alpha polypeptide	595	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				adrenal gland development (GO:0030325)|cardiac myofibril assembly (GO:0055003)|cell activation (GO:0001775)|cell chemotaxis (GO:0060326)|cellular response to amino acid stimulus (GO:0071230)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic skeletal system morphogenesis (GO:0048704)|epidermal growth factor receptor signaling pathway (GO:0007173)|estrogen metabolic process (GO:0008210)|extracellular matrix organization (GO:0030198)|face morphogenesis (GO:0060325)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hematopoietic progenitor cell differentiation (GO:0002244)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|Leydig cell differentiation (GO:0033327)|lung development (GO:0030324)|luteinization (GO:0001553)|male genitalia development (GO:0030539)|metanephric glomerular capillary formation (GO:0072277)|negative regulation of platelet activation (GO:0010544)|neurotrophin TRK receptor signaling pathway (GO:0048011)|odontogenesis of dentin-containing tooth (GO:0042475)|palate development (GO:0060021)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet aggregation (GO:0070527)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|platelet-derived growth factor receptor-alpha signaling pathway (GO:0035790)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell proliferation by VEGF-activated platelet derived growth factor receptor signaling pathway (GO:0038091)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of DNA replication (GO:0045740)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|protein autophosphorylation (GO:0046777)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of chemotaxis (GO:0050920)|regulation of mesenchymal stem cell differentiation (GO:2000739)|retina vasculature development in camera-type eye (GO:0061298)|signal transduction involved in regulation of gene expression (GO:0023019)|viral process (GO:0016032)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|membrane (GO:0016020)|microvillus (GO:0005902)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|platelet-derived growth factor alpha-receptor activity (GO:0005018)|platelet-derived growth factor binding (GO:0048407)|platelet-derived growth factor receptor binding (GO:0005161)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor binding (GO:0038085)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sunitinib(DB01268)	TGGACTAGTGCTTGGTAAGTT	0.448			"Mis, O, T"	FIP1L1	"GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)																											Pancreas(151;208 1913 7310 23853 37092)	ENST00000257290.5				Dom	yes		4	4q11-q13	5156	"Mis, O, T"	"platelet-derived growth factor, alpha-receptor"			"L, M, O"	FIP1L1		"GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"		0				NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967						c.(1783-1785)Ctt>Ttt		platelet-derived growth factor receptor, alpha polypeptide	Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)						85	84	85					4																	55141137		2203	4300	6503	SO:0001583	missense	5156	Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	Familial Cancer Database	Sporadic Multiple GIST;Familial Intestinal Stromal Tumors, NF3B, subset of Familial GIST,	cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity	g.chr4:55141137C>T	D50001	CCDS3495.1	4q12	2014-09-17			ENSG00000134853	ENSG00000134853		"CD molecules", "Immunoglobulin superfamily / I-set domain containing"	8803	protein-coding gene	gene with protein product		173490					Standard	NM_006206		Approved	CD140a, PDGFR2	uc003han.4	P16234	OTTHUMG00000128699	ENST00000257290.5:c.1783C>T	4.37:g.55141137C>T	ENSP00000257290:p.Leu595Phe	TSP Lung(21;0.16)				FIP1L1_ENST00000507166.1_Missense_Mutation_p.L355F	p.L595F	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		12	2114	+	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		595			Protein kinase.		B2RE69|E9PBH0|Q6P4H5|Q96KZ7|Q9UD28	Missense_Mutation	SNP	ENST00000257290.5	37	c.1783C>T	CCDS3495.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.317496	0.81469	.	.	ENSG00000145216;ENSG00000134853	ENST00000507166;ENST00000257290	D;D	0.83914	-1.78;-1.78	6.03	6.03	0.97812	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.29501	U	0.011975	D	0.88265	0.6390	L	0.43598	1.365	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.83385	0.0014	10	0.20046	T	0.44	.	20.5568	0.99304	0.0:1.0:0.0:0.0	.	595;595	P16234-3;P16234	.;PGFRA_HUMAN	F	355;595	ENSP00000423325:L355F;ENSP00000257290:L595F	ENSP00000423325:L355F	L	+	1	0	FIP1L1;PDGFRA	54835894	1.000000	0.71417	1.000000	0.80357	0.885000	0.51271	3.983000	0.56916	2.861000	0.98227	0.655000	0.94253	CTT		0.448	PDGFRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250598.2	NM_006206		15	44	0	0	0	1	0	15	44					T	55141137	C	T	55141137	3	4	257	1	0	0	0	0	1	0	0	0	11661	797	28	3	1825	3	PDGFRA	4	55141137	Missense_Mutation	SNP	C	TCGA-HC-A9TH-01A-11D-A41K-08	16342759	55141137	136013139	17	12044											
KDR	3791	broad.mit.edu	37	chr4	55971085	55971085	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acgtagatctgtctgcagtgCaccacaaagacacgctctcc	11	8	8	14	2	3	2	0	0	3	2	4	2	3	2	2	0	2	4	2	0	2	1			TCGA-HC-A9TH-01A-11D-A41K-08	TCGA-HC-A9TH-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3512f7-1306-483f-a744-ffefce67c8d2	8fae14ec-5bd1-4057-a5f4-a7ce7e45e5f3	g.chr4:55971085C>T	ENST00000263923.4	-	13	2007	c.1712G>A	c.(1711-1713)tGc>tAc	p.C571Y		NM_002253.2	NP_002244.1	P35968	VGFR2_HUMAN	kinase insert domain receptor (a type III receptor tyrosine kinase)	571	Ig-like C2-type 6.				angiogenesis (GO:0001525)|branching morphogenesis of an epithelial tube (GO:0048754)|calcium ion homeostasis (GO:0055074)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|cell fate commitment (GO:0045165)|cell maturation (GO:0048469)|cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|embryonic hemopoiesis (GO:0035162)|endothelial cell differentiation (GO:0045446)|endothelium development (GO:0003158)|extracellular matrix organization (GO:0030198)|lung alveolus development (GO:0048286)|lymph vessel development (GO:0001945)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|ovarian follicle development (GO:0001541)|peptidyl-tyrosine autophosphorylation (GO:0038083)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of vasculogenesis (GO:2001214)|protein autophosphorylation (GO:0046777)|regulation of cell shape (GO:0008360)|signal transduction by phosphorylation (GO:0023014)|surfactant homeostasis (GO:0043129)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor signaling pathway (GO:0038084)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sorting endosome (GO:0097443)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|Hsp90 protein binding (GO:0051879)|integrin binding (GO:0005178)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor binding (GO:0038085)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Axitinib(DB06626)|Cabozantinib(DB08875)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	GTCTGCAGTGCACCACAAAGA	0.502			Mis		"NSCLC, angiosarcoma"					TSP Lung(20;0.16)																												ENST00000263923.4				Dom	yes		4	4q11-q12	3791	Mis	vascular endothelial growth factor receptor 2			E			"NSCLC, angiosarcoma"		0				NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135						c.(1711-1713)tGc>tAc		kinase insert domain receptor (a type III receptor tyrosine kinase)	Sorafenib(DB00398)|Sunitinib(DB01268)						108	96	100					4																	55971085		2203	4300	6503	SO:0001583	missense	3791				angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape	integral to plasma membrane	ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity	g.chr4:55971085C>T	AF035121	CCDS3497.1	4q11-q12	2013-01-29			ENSG00000128052	ENSG00000128052	2.7.10.1	"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6307	protein-coding gene	gene with protein product		191306				1417831	Standard	NM_002253		Approved	FLK1, VEGFR, VEGFR2, CD309	uc003has.3	P35968	OTTHUMG00000128734	ENST00000263923.4:c.1712G>A	4.37:g.55971085C>T	ENSP00000263923:p.Cys571Tyr	TSP Lung(20;0.16)					p.C571Y	NM_002253.2	NP_002244.1	P35968	VGFR2_HUMAN	Epithelial(7;0.189)		13	2007	-	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		571			Ig-like C2-type 6.		A2RRS0|B5A925|C5IFA0|O60723|Q14178	Missense_Mutation	SNP	ENST00000263923.4	37	c.1712G>A	CCDS3497.1	.	.	.	.	.	.	.	.	.	.	C	17.60	3.429782	0.62844	.	.	ENSG00000128052	ENST00000263923	D	0.94537	-3.45	5.86	5.86	0.93980	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.97567	0.9203	M	0.83603	2.65	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.97715	1.0193	10	0.87932	D	0	.	20.1785	0.98192	0.0:1.0:0.0:0.0	.	571;571	P35968-2;P35968	.;VGFR2_HUMAN	Y	571	ENSP00000263923:C571Y	ENSP00000263923:C571Y	C	-	2	0	KDR	55665842	1.000000	0.71417	0.990000	0.47175	0.074000	0.17049	7.030000	0.76484	2.773000	0.95371	0.655000	0.94253	TGC		0.502	KDR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250645.1			13	38	0	0	0	1	0	13	38					T	55971085	C	T	55971085	3	4	257	1	0	0	0	0	1	0	0	0	8139	710	25	3	2430	3	KDR	4	55971085	Missense_Mutation	SNP	C	TCGA-HC-A9TH-01A-11D-A41K-08	829948	55971085	135183191	18	12045											
YTHDC1	91746	broad.mit.edu	37	chr4	69203566	69203566	+	Frame_Shift_Del	DEL	C	C	-																															tgtctagaatggacagaaggCttttgtcgtttggtatcagt																										TCGA-HC-A9TH-01A-11D-A41K-08	TCGA-HC-A9TH-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3512f7-1306-483f-a744-ffefce67c8d2	8fae14ec-5bd1-4057-a5f4-a7ce7e45e5f3	g.chr4:69203566delC	ENST00000344157.4	-	3	518	c.183delG	c.(181-183)aagfs	p.K61fs	YTHDC1_ENST00000355665.3_Frame_Shift_Del_p.K61fs|YTHDC1_ENST00000579690.1_Frame_Shift_Del_p.K61fs	NM_001031732.2	NP_001026902.1	Q96MU7	YTDC1_HUMAN	YTH domain containing 1	61					mRNA splice site selection (GO:0006376)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	30						GGACAGAAGGCTTTTGTCGTT	0.328																																						ENST00000344157.4																			0				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	30						c.(181-183)aafs		YTH domain containing 1							117	114	115					4																	69203566		2203	4300	6503	SO:0001589	frameshift_variant	91746							g.chr4:69203566delC	AK098515	CCDS3522.2, CCDS33992.1	4q13.3	2009-01-14			ENSG00000083896	ENSG00000083896			30626	protein-coding gene	gene with protein product						12368078, 10564280	Standard	XM_005265706		Approved	YT521, KIAA1966, YT521-B	uc003hdx.3	Q96MU7	OTTHUMG00000129306	ENST00000344157.4:c.183delG	4.37:g.69203566delC	ENSP00000339245:p.Lys61fs					YTHDC1_ENST00000355665.3_Frame_Shift_Del_p.K61fs|YTHDC1_ENST00000579690.1_Frame_Shift_Del_p.K61fs	p.K61fs	NM_001031732.2	NP_001026902.1	Q96MU7	YTDC1_HUMAN			3	518	-			61					Q4W5Q3|Q7Z622|Q8TF35	Frame_Shift_Del	DEL	ENST00000344157.4	37	c.183delG	CCDS33992.1																																																																																				0.328	YTHDC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251437.1	NM_133370		18	39						18	39	---	---	---	---	-	69203566	C	-	69203566	7	5	257	1	0	1	0	1	0	0	0	0	17493	796	28	0	2060	0	YTHDC1	4	69203566	Frame_Shift_Del	DEL	C	TCGA-HC-A9TH-01A-11D-A41K-08	13232481	69203566	121950710	19	12046											
SFRP2	6423	broad.mit.edu	37	chr4	154709579	154709579	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gtcgcactcaagcatgtcggGccaggggaagccgaaggcgg	9	4	17	11	4	1	0	1	0	0	0	3	2	1	1	2	5	2	2	2	5	3	0			TCGA-HC-A9TH-01A-11D-A41K-08	TCGA-HC-A9TH-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3512f7-1306-483f-a744-ffefce67c8d2	8fae14ec-5bd1-4057-a5f4-a7ce7e45e5f3	g.chr4:154709579G>A	ENST00000274063.4	-	1	693	c.409C>T	c.(409-411)Ccc>Tcc	p.P137S		NM_003013.2	NP_003004.1	Q96HF1	SFRP2_HUMAN	secreted frizzled-related protein 2	137	FZ. {ECO:0000255|PROSITE- ProRule:PRU00090}.				bone morphogenesis (GO:0060349)|brain development (GO:0007420)|cardiac left ventricle morphogenesis (GO:0003214)|cell-cell signaling (GO:0007267)|cellular response to extracellular stimulus (GO:0031668)|cellular response to X-ray (GO:0071481)|chondrocyte development (GO:0002063)|collagen fibril organization (GO:0030199)|convergent extension involved in axis elongation (GO:0060028)|digestive tract morphogenesis (GO:0048546)|embryonic digit morphogenesis (GO:0042733)|gonad development (GO:0008406)|hematopoietic stem cell proliferation (GO:0071425)|male gonad development (GO:0008584)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cardiac muscle cell apoptotic process (GO:0010667)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of dermatome development (GO:0061185)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of gene expression (GO:0010629)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902230)|negative regulation of JUN kinase activity (GO:0043508)|negative regulation of mesodermal cell fate specification (GO:0042662)|negative regulation of peptidyl-tyrosine phosphorylation (GO:0050732)|negative regulation of planar cell polarity pathway involved in axis elongation (GO:2000041)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of Wnt signaling pathway (GO:0030178)|neural tube closure (GO:0001843)|outflow tract morphogenesis (GO:0003151)|patterning of blood vessels (GO:0001569)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of angiogenesis (GO:0045766)|positive regulation of apoptotic process (GO:0043065)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cell growth (GO:0030307)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-anal tail morphogenesis (GO:0036342)|regulation of stem cell division (GO:2000035)|response to drug (GO:0042493)|response to nutrient (GO:0007584)|sclerotome development (GO:0061056)|vasculature development (GO:0001944)|Wnt signaling pathway involved in somitogenesis (GO:0090244)	cytoplasm (GO:0005737)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	endopeptidase activator activity (GO:0061133)|fibronectin binding (GO:0001968)|integrin binding (GO:0005178)|metalloenzyme activator activity (GO:0010577)|PDZ domain binding (GO:0030165)|receptor agonist activity (GO:0048018)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(1)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	16	all_hematologic(180;0.093)	Renal(120;0.117)				AGCATGTCGGGCCAGGGGAAG	0.647																																						ENST00000274063.4																			0				breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(1)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	16						c.(409-411)Ccc>Tcc		secreted frizzled-related protein 2							80	84	83					4																	154709579		2203	4300	6503	SO:0001583	missense	6423				brain development|cardiac left ventricle morphogenesis|cell-cell signaling|dermatome development|hemopoietic stem cell proliferation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell growth|negative regulation of cell migration|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of transcription, DNA-dependent|outflow tract morphogenesis|patterning of blood vessels|positive regulation of angiogenesis|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell adhesion mediated by integrin|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of fat cell differentiation|positive regulation of peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter|regulation of stem cell division|sclerotome development	cytoplasm|extracellular matrix|extracellular space|plasma membrane	fibronectin binding|integrin binding|PDZ domain binding|receptor agonist activity|Wnt receptor activity|Wnt-protein binding	g.chr4:154709579G>A	AF017986	CCDS34082.1	4q31.3	2008-08-29			ENSG00000145423	ENSG00000145423		"Secreted frizzled-related proteins"	10777	protein-coding gene	gene with protein product		604157				9391078	Standard	NM_003013		Approved	SARP1, SDF-5, FRP-2	uc003inv.1	Q96HF1	OTTHUMG00000161559	ENST00000274063.4:c.409C>T	4.37:g.154709579G>A	ENSP00000274063:p.Pro137Ser						p.P137S	NM_003013.2	NP_003004.1	Q96HF1	SFRP2_HUMAN			1	693	-	all_hematologic(180;0.093)	Renal(120;0.117)	137			FZ.		B3KQR2|O14778|Q9HAP5	Missense_Mutation	SNP	ENST00000274063.4	37	c.409C>T	CCDS34082.1	.	.	.	.	.	.	.	.	.	.	G	29.4	5.001398	0.93227	.	.	ENSG00000145423	ENST00000274063	T	0.73789	-0.78	5.09	4.22	0.49857	Frizzled domain (5);	0.049039	0.85682	D	0.000000	D	0.87740	0.6253	M	0.89414	3.03	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	D	0.90202	0.4258	10	0.87932	D	0	.	14.9443	0.71016	0.0:0.0:0.8557:0.1443	.	137	Q96HF1	SFRP2_HUMAN	S	137	ENSP00000274063:P137S	ENSP00000274063:P137S	P	-	1	0	SFRP2	154929029	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.696000	0.98695	1.226000	0.43582	0.585000	0.79938	CCC		0.647	SFRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365296.1			13	19	0	0	0	1	0	13	19					A	154709579	G	A	154709579	3	1	257	1	0	0	0	0	1	0	0	0	14162	1203	42	3	490	3	SFRP2	4	154709579	Missense_Mutation	SNP	G	TCGA-HC-A9TH-01A-11D-A41K-08	85506013	154709579	36444697	20	12047											
PCDHA4	56144	broad.mit.edu	37	chr5	140188233	140188233	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gacgcggacgcgcaggagaaCgcgctggtgtcctactcgct	7	6	15	13	7	0	1	0	0	0	1	2	4	1	2	1	3	2	3	1	3	2	1	rs139246893		TCGA-HC-A9TH-01A-11D-A41K-08	TCGA-HC-A9TH-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3512f7-1306-483f-a744-ffefce67c8d2	8fae14ec-5bd1-4057-a5f4-a7ce7e45e5f3	g.chr5:140188233C>T	ENST00000530339.1	+	1	1461	c.1461C>T	c.(1459-1461)aaC>aaT	p.N487N	PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Silent_p.N487N|PCDHA4_ENST00000356878.4_Silent_p.N487N|PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron	NM_018907.2	NP_061730.1	Q9UN74	PCDA4_HUMAN	protocadherin alpha 4	487	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.N487N(2)		breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(6)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGCAGGAGAACGCGCTGGTGT	0.657																																						ENST00000530339.1																			2	Substitution - coding silent(2)	p.N487N(2)	lung(2)	breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(6)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	78						c.(1459-1461)aaC>aaT				C	,,,,,	1,4405	2.1+/-5.4	0,1,2202	62	65	64		,,,1461,,1461	3.3	1	5	dbSNP_134	64	0,8600		0,0,4300	no	intron,intron,intron,coding-synonymous,intron,coding-synonymous	PCDHA4,PCDHA3,PCDHA2,PCDHA1	NM_018900.2,NM_018905.2,NM_018906.2,NM_018907.2,NM_031411.1,NM_031500.1	,,,,,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,,,,,	,,,487/948,,487/799	140188233	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0							g.chr5:140188233C>T	AF152482	CCDS54916.1	5q31	2010-11-26				ENSG00000204967		"Cadherins / Protocadherins : Clustered"	8670	other	complex locus constituent	"ortholog of mouse CNR1, KIAA0345-like 10"	606310				10380929, 10662547	Standard	NM_018907		Approved	CNR1, CRNR1, PCDH-ALPHA4, CNRN1		Q9UN74		ENST00000530339.1:c.1461C>T	5.37:g.140188233C>T						PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Silent_p.N487N|PCDHA4_ENST00000356878.4_Silent_p.N487N|PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron	p.N487N	NM_018907.2	NP_061730.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1461	+								O75285|Q2M253	Silent	SNP	ENST00000530339.1	37	c.1461C>T	CCDS54916.1																																																																																				0.657	PCDHA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372864.2	NM_018907		8	55	0	0	0	1	0	8	55					T	140188233	C	T	140188233	2	4	257	1	0	0	0	0	0	0	0	1	11526	535	19	1		1	PCDHA4	5	140188233	Silent	SNP	C	TCGA-HC-A9TH-01A-11D-A41K-08		140188233	40727027	21	12048											
PCDHA4	56144	broad.mit.edu	37	chr5	140188443	140188443	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcaggtgttcgtgctggaCgaaaacgacaacgcgccagc	10	6	13	12	5	0	0	0	0	0	0	1	3	0	1	1	2	5	3	1	2	3	1			TCGA-HC-A9TH-01A-11D-A41K-08	TCGA-HC-A9TH-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3512f7-1306-483f-a744-ffefce67c8d2	8fae14ec-5bd1-4057-a5f4-a7ce7e45e5f3	g.chr5:140188443C>T	ENST00000530339.1	+	1	1671	c.1671C>T	c.(1669-1671)gaC>gaT	p.D557D	PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Silent_p.D557D|PCDHA4_ENST00000356878.4_Silent_p.D557D|PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron	NM_018907.2	NP_061730.1	Q9UN74	PCDA4_HUMAN	protocadherin alpha 4	557	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(6)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCGTGCTGGACGAAAACGACA	0.667																																						ENST00000530339.1																			0				breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(6)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	78						c.(1669-1671)gaC>gaT									75	76	76					5																	140188443		2203	4298	6501	SO:0001819	synonymous_variant	0							g.chr5:140188443C>T	AF152482	CCDS54916.1	5q31	2010-11-26				ENSG00000204967		"Cadherins / Protocadherins : Clustered"	8670	other	complex locus constituent	"ortholog of mouse CNR1, KIAA0345-like 10"	606310				10380929, 10662547	Standard	NM_018907		Approved	CNR1, CRNR1, PCDH-ALPHA4, CNRN1		Q9UN74		ENST00000530339.1:c.1671C>T	5.37:g.140188443C>T						PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Silent_p.D557D|PCDHA4_ENST00000356878.4_Silent_p.D557D|PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron	p.D557D	NM_018907.2	NP_061730.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1671	+								O75285|Q2M253	Silent	SNP	ENST00000530339.1	37	c.1671C>T	CCDS54916.1																																																																																				0.667	PCDHA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372864.2	NM_018907		27	35	0	0	0	1	0	27	35					T	140188443	C	T	140188443	2	4	257	1	0	0	0	0	0	0	0	1	11526	535	19	1		1	PCDHA4	5	140188443	Silent	SNP	C	TCGA-HC-A9TH-01A-11D-A41K-08	210	140188443	40726817	22	12049											
PDCD2	5134	broad.mit.edu	37	chr6	170893398	170893398	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gcggctcacctcgcaggccgGcacagcacggctgctcgcgg	5	4	15	17	6	1	0	1	0	0	0	3	0	1	0	2	5	2	6	2	5	0	0			TCGA-HC-A9TH-01A-11D-A41K-08	TCGA-HC-A9TH-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3512f7-1306-483f-a744-ffefce67c8d2	8fae14ec-5bd1-4057-a5f4-a7ce7e45e5f3	g.chr6:170893398G>A	ENST00000541970.1	-	1	350	c.272C>T	c.(271-273)gCc>gTc	p.A91V	PDCD2_ENST00000542896.1_Missense_Mutation_p.A91V|PDCD2_ENST00000453163.2_Missense_Mutation_p.A91V|PDCD2_ENST00000392090.2_Missense_Mutation_p.A58V|PDCD2_ENST00000443345.2_Missense_Mutation_p.A58V|PDCD2_ENST00000537445.1_Missense_Mutation_p.A58V	NM_001199462.1|NM_002598.3	NP_001186391.1|NP_002589.2	Q16342	PDCD2_HUMAN	programmed cell death 2	91					apoptotic process (GO:0006915)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|large_intestine(1)|lung(5)	9		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;6.91e-23)|BRCA - Breast invasive adenocarcinoma(81;4.82e-06)|GBM - Glioblastoma multiforme(31;0.142)		TCGCAGGCCGGCACAGCACGG	0.711																																					Colon(60;1476 1726 39478)	ENST00000541970.1																			0				breast(1)|endometrium(2)|large_intestine(1)|lung(5)	9						c.(271-273)gCc>gTc		programmed cell death 2							13	14	14					6																	170893398		1701	3603	5304	SO:0001583	missense	5134				apoptosis	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding	g.chr6:170893398G>A	AJ420535	CCDS5316.1, CCDS47521.1, CCDS56460.1, CCDS56461.1, CCDS56462.1, CCDS75557.1	6q27	2008-02-05			ENSG00000071994	ENSG00000071994		"Zinc fingers, MYND-type"	8762	protein-coding gene	gene with protein product		600866				7606924	Standard	NM_002598		Approved	ZMYND7, RP8	uc003qxw.3	Q16342	OTTHUMG00000016083	ENST00000541970.1:c.272C>T	6.37:g.170893398G>A	ENSP00000439467:p.Ala91Val					PDCD2_ENST00000453163.2_Missense_Mutation_p.A91V|PDCD2_ENST00000542896.1_Missense_Mutation_p.A91V|PDCD2_ENST00000537445.1_Missense_Mutation_p.A58V|PDCD2_ENST00000392090.2_Missense_Mutation_p.A58V|PDCD2_ENST00000443345.2_Missense_Mutation_p.A58V	p.A91V	NM_001199462.1|NM_002598.3	NP_001186391.1|NP_002589.2	Q16342	PDCD2_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;6.91e-23)|BRCA - Breast invasive adenocarcinoma(81;4.82e-06)|GBM - Glioblastoma multiforme(31;0.142)	1	350	-		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)	91					E9PCU7|F5GYS7|Q58HM9|Q58HN0|Q9UH12	Missense_Mutation	SNP	ENST00000541970.1	37	c.272C>T	CCDS5316.1	.	.	.	.	.	.	.	.	.	.	.	31	5.083931	0.94100	.	.	ENSG00000071994	ENST00000541970;ENST00000392090;ENST00000542896;ENST00000453163;ENST00000537445;ENST00000443345	T;T;T	0.32023	1.47;1.47;1.47	4.15	3.25	0.37280	.	0.622028	0.17238	N	0.181663	T	0.11324	0.0276	L	0.41961	1.31	0.35793	D	0.822535	B;B;B;B;B;B	0.14012	0.007;0.009;0.007;0.002;0.0;0.001	B;B;B;B;B;B	0.12156	0.007;0.004;0.003;0.003;0.002;0.002	T	0.06232	-1.0838	9	.	.	.	-24.5275	10.9946	0.47569	0.0:0.1902:0.8098:0.0	.	58;91;58;91;91;58	F5GYS7;E9PCU7;Q58HM9;F5H4V9;Q16342;Q58HN0	.;.;.;.;PDCD2_HUMAN;.	V	91;58;91;91;58;58	ENSP00000439467:A91V;ENSP00000439914:A91V;ENSP00000402524:A91V	.	A	-	2	0	PDCD2	170735323	1.000000	0.71417	0.933000	0.37362	0.978000	0.69477	3.072000	0.50049	0.915000	0.36847	0.655000	0.94253	GCC		0.711	PDCD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043269.2	NM_002598		3	47	0	0	0	1	0	3	47					A	170893398	G	A	170893398	3	1	257	1	0	0	0	0	1	0	0	0	11619	1203	42	3	815	3	PDCD2	6	170893398	Missense_Mutation	SNP	G	TCGA-HC-A9TH-01A-11D-A41K-08		170893398	221669	23	12050											
FKBP14	55033	broad.mit.edu	37	chr7	30054372	30054372	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tataactcatcgtgtttataTgtaaattctctggcagatat	12	17	6	6	1	2	1	1	0	1	1	4	1	2	1	0	1	1	3	0	1	7	8	rs577454244		TCGA-HC-A9TH-01A-11D-A41K-08	TCGA-HC-A9TH-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3512f7-1306-483f-a744-ffefce67c8d2	8fae14ec-5bd1-4057-a5f4-a7ce7e45e5f3	g.chr7:30054372T>C	ENST00000222803.5	-	4	790	c.615A>G	c.(613-615)acA>acG	p.T205T	AC007285.6_ENST00000419103.1_RNA|AC007285.6_ENST00000422239.1_RNA	NM_017946.3	NP_060416.1	Q9NWM8	FKB14_HUMAN	FK506 binding protein 14, 22 kDa	205	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|chaperone-mediated protein folding (GO:0061077)|endoplasmic reticulum unfolded protein response (GO:0030968)|protein peptidyl-prolyl isomerization (GO:0000413)	endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)	calcium ion binding (GO:0005509)|FK506 binding (GO:0005528)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			breast(1)|large_intestine(2)|lung(2)	5						CGTGTTTATATGTAAATTCTC	0.338																																						ENST00000222803.5																			0				breast(1)|large_intestine(2)|lung(2)	5						c.(613-615)acA>acG		FK506 binding protein 14, 22 kDa							99	94	96					7																	30054372		2202	4297	6499	SO:0001819	synonymous_variant	55033				protein folding	endoplasmic reticulum lumen|membrane	calcium ion binding|FK506 binding|peptidyl-prolyl cis-trans isomerase activity	g.chr7:30054372T>C	AK000738	CCDS5423.1	7p15	2014-09-17	2002-08-29		ENSG00000106080	ENSG00000106080		"EF-hand domain containing"	18625	protein-coding gene	gene with protein product		614505	"FK506 binding protein 14 (22 kDa)"			12036304	Standard	NM_017946		Approved	FLJ20731, FKBP22	uc003tal.2	Q9NWM8	OTTHUMG00000023442	ENST00000222803.5:c.615A>G	7.37:g.30054372T>C						AC007285.6_ENST00000419103.1_RNA|AC007285.6_ENST00000422239.1_RNA	p.T205T	NM_017946.3	NP_060416.1	Q9NWM8	FKB14_HUMAN			4	790	-			205			EF-hand 2.			Silent	SNP	ENST00000222803.5	37	c.615A>G	CCDS5423.1																																																																																				0.338	FKBP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214229.1	NM_017946		11	19	0	0	0	1	0	11	19					C	30054372	T	C	30054372	2	2	257	1	0	0	0	0	0	0	0	1	5904	1451	51	4		4	FKBP14	7	30054372	Silent	SNP	T	TCGA-HC-A9TH-01A-11D-A41K-08		30054372	129084291	24	12051											
OR2A14	135941	broad.mit.edu	37	chr7	143826862	143826862	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgctggtctcctacttgcgCatcctggccgccatcttgag	4	12	11	14	2	2	1	0	1	2	0	4	1	3	1	4	2	3	2	4	2	1	3			TCGA-HC-A9TH-01A-11D-A41K-08	TCGA-HC-A9TH-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3512f7-1306-483f-a744-ffefce67c8d2	8fae14ec-5bd1-4057-a5f4-a7ce7e45e5f3	g.chr7:143826862C>T	ENST00000408899.2	+	1	712	c.657C>T	c.(655-657)cgC>cgT	p.R219R		NM_001001659.1	NP_001001659.1	Q96R47	O2A14_HUMAN	olfactory receptor, family 2, subfamily A, member 14	219						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			large_intestine(4)|lung(17)|skin(1)	22	Melanoma(164;0.0783)					CCTACTTGCGCATCCTGGCCG	0.612																																						ENST00000408899.2																			0				large_intestine(4)|lung(17)|skin(1)	22						c.(655-657)cgC>cgT		olfactory receptor, family 2, subfamily A, member 14							121	126	124					7																	143826862		2066	4206	6272	SO:0001819	synonymous_variant	135941				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr7:143826862C>T		CCDS43672.1	7q35	2013-09-20		2004-03-08	ENSG00000221938	ENSG00000221938		"GPCR / Class A : Olfactory receptors"	15084	protein-coding gene	gene with protein product				OR2A14P, OR2A6			Standard	NM_001001659		Approved	OST182	uc011kua.2	Q96R47	OTTHUMG00000158003	ENST00000408899.2:c.657C>T	7.37:g.143826862C>T							p.R219R	NM_001001659.1	NP_001001659.1	Q96R47	O2A14_HUMAN			1	712	+	Melanoma(164;0.0783)		219					Q6IF41|Q8NGT8	Silent	SNP	ENST00000408899.2	37	c.657C>T	CCDS43672.1																																																																																				0.612	OR2A14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349980.1			6	169	0	0	0	1	0	6	169					T	143826862	C	T	143826862	2	4	257	1	0	0	0	0	0	0	0	1	10976	697	25	3		3	OR2A14	7	143826862	Silent	SNP	C	TCGA-HC-A9TH-01A-11D-A41K-08	113772490	143826862	15311801	25	12052											
SSPO	23145	broad.mit.edu	37	chr7	149522071	149522071	+	RNA	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagactcatgccagtggagtCtgtgggggccatggagcccc	7	7	15	12	0	2	1	1	0	1	1	2	3	2	3	4	4	2	0	4	4	0	0			TCGA-HC-A9TH-01A-11D-A41K-08	TCGA-HC-A9TH-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3512f7-1306-483f-a744-ffefce67c8d2	8fae14ec-5bd1-4057-a5f4-a7ce7e45e5f3	g.chr7:149522071C>A	ENST00000378016.2	+	0	13858							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion (GO:0007155)	extracellular space (GO:0005615)	peptidase inhibitor activity (GO:0030414)					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CCAGTGGAGTCTGTGGGGGCC	0.652																																						ENST00000378016.2																			0													SCO-spondin							11	14	13					7																	149522071		2008	4157	6165			23145				cell adhesion	extracellular space	peptidase inhibitor activity	g.chr7:149522071C>A	AK093431		7q36.1	2013-08-07	2013-08-06		ENSG00000197558	ENSG00000197558			21998	protein-coding gene	gene with protein product	"subcommissural organ spondin", "SCO protein, thrombospondin domain containing"		"SCO-spondin homolog (Bos taurus)"			8743952, 11008217	Standard	NM_198455		Approved	SCO-spondin, KIAA0543, FLJ36112	uc010lpk.3	A2VEC9	OTTHUMG00000157884		7.37:g.149522071C>A										A2VEC9	SSPO_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00625)		0	13858	+	Melanoma(164;0.165)|Ovarian(565;0.177)							Q76B61	RNA	SNP	ENST00000378016.2	37																																																																																						0.652	SSPO-202	KNOWN	basic	processed_transcript	processed_transcript				2	1	1	0	0.0016	1	0.00162353	2	1					A	149522071	C	A	149522071	1	1	257	0	1	0	0	0	0	0	0	0	15188	912	32	5		5	SSPO	7	149522071	RNA	SNP	C	TCGA-HC-A9TH-01A-11D-A41K-08	5695209	149522071	9616592	26	12053											
KCNV2	169522	broad.mit.edu	37	chr9	2718996	2718996	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcctgctgctcttcatcgcCatgggcatcttcactttctc	4	15	7	15	1	5	0	2	0	3	0	7	0	5	0	2	1	3	3	2	1	0	3			TCGA-HC-A9TH-01A-11D-A41K-08	TCGA-HC-A9TH-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3512f7-1306-483f-a744-ffefce67c8d2	8fae14ec-5bd1-4057-a5f4-a7ce7e45e5f3	g.chr9:2718996C>T	ENST00000382082.3	+	1	1495	c.1257C>T	c.(1255-1257)gcC>gcT	p.A419A		NM_133497.3	NP_598004.1	Q8TDN2	KCNV2_HUMAN	potassium channel, subfamily V, member 2	419					protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(2)	35				GBM - Glioblastoma multiforme(50;0.0257)		TCTTCATCGCCATGGGCATCT	0.637																																						ENST00000382082.3																			0				NS(1)|breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(2)	35						c.(1255-1257)gcC>gcT		potassium channel, subfamily V, member 2							74	63	67					9																	2718996		2203	4300	6503	SO:0001819	synonymous_variant	169522					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr9:2718996C>T	AF348983	CCDS6447.1	9p24.2	2011-07-05			ENSG00000168263	ENSG00000168263		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	19698	protein-coding gene	gene with protein product		607604				12060745, 16382104	Standard	NM_133497		Approved	Kv8.2	uc003zho.2	Q8TDN2	OTTHUMG00000019449	ENST00000382082.3:c.1257C>T	9.37:g.2718996C>T							p.A419A	NM_133497.3	NP_598004.1	Q8TDN2	KCNV2_HUMAN		GBM - Glioblastoma multiforme(50;0.0257)	1	1495	+			419					Q5T6X0	Silent	SNP	ENST00000382082.3	37	c.1257C>T	CCDS6447.1																																																																																				0.637	KCNV2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051528.1	NM_133497		10	21	0	0	0	1	0	10	21					T	2718996	C	T	2718996	2	4	257	1	0	0	0	0	0	0	0	1	8095	581	21	3		3	KCNV2	9	2718996	Silent	SNP	C	TCGA-HC-A9TH-01A-11D-A41K-08		2718996	138494435	27	12054											
TLR4	7099	broad.mit.edu	37	chr9	120475154	120475154	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgaaaacttgtattcaaggtCtggctggtttagaagtccat	11	14	10	6	0	2	2	1	1	1	1	3	2	3	2	1	3	1	3	1	3	6	5			TCGA-HC-A9TH-01A-11D-A41K-08	TCGA-HC-A9TH-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3512f7-1306-483f-a744-ffefce67c8d2	8fae14ec-5bd1-4057-a5f4-a7ce7e45e5f3	g.chr9:120475154C>T	ENST00000355622.6	+	3	849	c.748C>T	c.(748-750)Ctg>Ttg	p.L250L	TLR4_ENST00000472304.1_3'UTR|TLR4_ENST00000394487.4_Silent_p.L210L	NM_138554.4|NM_138557.2	NP_612564.1|NP_612567.1	O00206	TLR4_HUMAN	toll-like receptor 4	250					activation of MAPK activity (GO:0000187)|B cell proliferation involved in immune response (GO:0002322)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to lipoteichoic acid (GO:0071223)|cellular response to mechanical stimulus (GO:0071260)|defense response to bacterium (GO:0042742)|defense response to Gram-negative bacterium (GO:0050829)|detection of fungus (GO:0016046)|detection of lipopolysaccharide (GO:0032497)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|I-kappaB phosphorylation (GO:0007252)|immune response (GO:0006955)|innate immune response (GO:0045087)|interferon-gamma production (GO:0032609)|intestinal epithelial structure maintenance (GO:0060729)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|macrophage activation (GO:0042116)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-17 production (GO:0032700)|negative regulation of interleukin-23 production (GO:0032707)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of tumor necrosis factor production (GO:0032720)|nitric oxide production involved in inflammatory response (GO:0002537)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of chemokine production (GO:0032722)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-1 production (GO:0032732)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 biosynthetic process (GO:0045084)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 biosynthetic process (GO:0045416)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of JNK cascade (GO:0046330)|positive regulation of macrophage cytokine production (GO:0060907)|positive regulation of MHC class II biosynthetic process (GO:0045348)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of nucleotide-binding oligomerization domain containing 1 signaling pathway (GO:0070430)|positive regulation of nucleotide-binding oligomerization domain containing 2 signaling pathway (GO:0070434)|positive regulation of platelet activation (GO:0010572)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of cytokine secretion (GO:0050707)|response to lipopolysaccharide (GO:0032496)|T-helper 1 type immune response (GO:0042088)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|endosome membrane (GO:0010008)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|lipopolysaccharide receptor complex (GO:0046696)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	lipopolysaccharide binding (GO:0001530)|lipopolysaccharide receptor activity (GO:0001875)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	103					Naloxone(DB01183)	TATTCAAGGTCTGGCTGGTTT	0.348																																						ENST00000355622.6																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	103						c.(748-750)Ctg>Ttg		toll-like receptor 4							68	75	72					9																	120475154		2191	4296	6487	SO:0001819	synonymous_variant	7099				activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|I-kappaB phosphorylation|innate immune response|intestinal epithelial structure maintenance|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|T-helper 1 type immune response|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm	lipopolysaccharide receptor activity|transmembrane receptor activity	g.chr9:120475154C>T	U88880	CCDS6818.1	9q33.1	2013-01-23			ENSG00000136869	ENSG00000136869		"CD molecules"	11850	protein-coding gene	gene with protein product		603030				9435236, 9237759	Standard	NM_138554		Approved	hToll, CD284, TLR-4, ARMD10	uc004bjz.4	O00206	OTTHUMG00000021046	ENST00000355622.6:c.748C>T	9.37:g.120475154C>T						TLR4_ENST00000472304.1_3'UTR|TLR4_ENST00000394487.4_Silent_p.L210L	p.L250L	NM_138554.4|NM_138557.2	NP_612564.1|NP_612567.1	O00206	TLR4_HUMAN			3	849	+			250					A8K1Y8|A9XLP9|A9XLQ0|A9XLQ1|B4E194|D1CS52|D1CS53|Q5VZI8|Q5VZI9|Q9UK78|Q9UM57	Silent	SNP	ENST00000355622.6	37	c.748C>T	CCDS6818.1																																																																																				0.348	TLR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055549.3	NM_138554		20	52	0	0	0	1	0	20	52					T	120475154	C	T	120475154	2	4	257	1	0	0	0	0	0	0	0	1	15950	912	32	3		3	TLR4	9	120475154	Silent	SNP	C	TCGA-HC-A9TH-01A-11D-A41K-08	117756158	120475154	20738277	28	12055											
GSN	2934	broad.mit.edu	37	chr9	124094713	124094713	+	Splice_Site	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cttgcacgtgtgtctgcagcTaagcggtacatcgagacgga	9	9	13	10	4	1	1	0	0	1	1	2	3	1	2	0	2	5	4	0	2	2	3			TCGA-HC-A9TH-01A-11D-A41K-08	TCGA-HC-A9TH-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3512f7-1306-483f-a744-ffefce67c8d2	8fae14ec-5bd1-4057-a5f4-a7ce7e45e5f3	g.chr9:124094713T>A	ENST00000373818.4	+	17	2250	c.2181T>A	c.(2179-2181)gcT>gcA	p.A727A	GSN_ENST00000436847.1_Splice_Site_p.A687A|GSN_ENST00000412819.1_Splice_Site_p.A676A|GSN_ENST00000394353.2_Splice_Site_p.A687A|GSN_ENST00000373806.1_Splice_Site_p.A152A|GSN_ENST00000341272.2_Splice_Site_p.A676A|GSN_ENST00000449733.1_Splice_Site_p.A676A|GSN_ENST00000545652.1_Splice_Site_p.A684A|GSN_ENST00000373823.3_Splice_Site_p.A676A|GSN_ENST00000373808.2_Splice_Site_p.A676A	NM_000177.4|NM_001258029.1	NP_000168.1|NP_001244958.1	P06396	GELS_HUMAN	gelsolin	727	Actin-binding, Ca-sensitive. {ECO:0000255}.				actin filament polymerization (GO:0030041)|actin filament severing (GO:0051014)|aging (GO:0007568)|apoptotic process (GO:0006915)|barbed-end actin filament capping (GO:0051016)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to cadmium ion (GO:0071276)|cilium morphogenesis (GO:0060271)|oligodendrocyte development (GO:0014003)|phosphatidylinositol-mediated signaling (GO:0048015)|regulation of cell adhesion (GO:0030155)|response to ethanol (GO:0045471)|response to folic acid (GO:0051593)|tissue regeneration (GO:0042246)|vesicle-mediated transport (GO:0016192)	actin cytoskeleton (GO:0015629)|blood microparticle (GO:0072562)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|perinuclear region of cytoplasm (GO:0048471)|protein complex (GO:0043234)|ruffle (GO:0001726)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)	21						TGTCTGCAGCTAAGCGGTACA	0.577											OREG0019445	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000373823.3																			0				NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)	21						c.e25-1		gelsolin							138	124	129					9																	124094713		2203	4300	6503	SO:0001630	splice_region_variant	2934				actin filament polymerization|actin filament severing|barbed-end actin filament capping|cellular component disassembly involved in apoptosis|cilium morphogenesis	actin cytoskeleton|cytosol	actin binding|calcium ion binding|protein binding	g.chr9:124094713T>A	X04412	CCDS6828.1, CCDS6829.1, CCDS48011.1, CCDS65118.1, CCDS75890.1, CCDS75891.1	9q33	2010-04-27	2010-04-27		ENSG00000148180	ENSG00000148180			4620	protein-coding gene	gene with protein product	"amyloidosis, Finnish type"	137350	"gelsolin (amyloidosis, Finnish type)"			1652889	Standard	NM_001127662		Approved	DKFZp313L0718	uc004blf.1	P06396	OTTHUMG00000020584	ENST00000373818.4:c.2180-1T>A	9.37:g.124094713T>A			OREG0019445	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1531	GSN_ENST00000436847.1_Splice_Site_p.A687_splice|GSN_ENST00000449733.1_Splice_Site_p.A676_splice|GSN_ENST00000394353.2_Splice_Site_p.A687_splice|GSN_ENST00000341272.2_Splice_Site_p.A676_splice|GSN_ENST00000545652.1_Splice_Site_p.A684_splice|GSN_ENST00000412819.1_Splice_Site_p.A676_splice|GSN_ENST00000373818.4_Splice_Site_p.A727_splice|GSN_ENST00000373808.2_Splice_Site_p.A676_splice|GSN_ENST00000373806.1_Splice_Site_p.A152_splice	p.A676_splice			P06396	GELS_HUMAN			25	2933	+			727			Actin-binding, Ca-sensitive (Potential).		A2A418|A8MUD1|A8MYN7|B7Z373|B7Z5V1|F5H1A8|Q5T0I2|Q8WVV7	Splice_Site	SNP	ENST00000373818.4	37	c.2026_splice	CCDS6828.1																																																																																				0.577	GSN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000053861.1	NM_000177	Silent	16	31	0	0	0	1	0	16	31					A	124094713	T	A	124094713	5	1	257	1	0	0	0	0	0	0	1	0	6825	1536	53	5	2275	5	GSN	9	124094713	Splice_Site	SNP	T	TCGA-HC-A9TH-01A-11D-A41K-08	3619559	124094713	17118718	29	12056											
TOR2A	27433	broad.mit.edu	37	chr9	130494342	130494342	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaggcgattcgggaggccaCggtcttgcagccgttggagg	7	7	18	9	4	1	0	0	0	1	0	2	4	1	2	2	6	2	2	2	6	1	3	rs559979121		TCGA-HC-A9TH-01A-11D-A41K-08	TCGA-HC-A9TH-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3512f7-1306-483f-a744-ffefce67c8d2	8fae14ec-5bd1-4057-a5f4-a7ce7e45e5f3	g.chr9:130494342C>T	ENST00000373284.5	-	5	983	c.937G>A	c.(937-939)Gtg>Atg	p.V313M	TOR2A_ENST00000336067.6_3'UTR|TOR2A_ENST00000458505.3_3'UTR|TOR2A_ENST00000472723.1_5'UTR|TOR2A_ENST00000373281.5_3'UTR	NM_001085347.2	NP_001078816	Q5JU69	TOR2A_HUMAN	torsin family 2, member A	313					chaperone mediated protein folding requiring cofactor (GO:0051085)|protein homooligomerization (GO:0051260)	endoplasmic reticulum lumen (GO:0005788)	ATP binding (GO:0005524)			NS(1)|endometrium(2)	3						CGGGAGGCCACGGTCTTGCAG	0.627													C|||	1	0.000199681	0	0	5008	,	,		19161	0		0	False		,,,				2504	0.001					ENST00000373284.5																			0				NS(1)|endometrium(2)	3						c.(937-939)Gtg>Atg		torsin family 2, member A							89	100	97					9																	130494342		2046	4190	6236	SO:0001583	missense	27433				chaperone mediated protein folding requiring cofactor	endoplasmic reticulum|extracellular region	ATP binding|nucleoside-triphosphatase activity	g.chr9:130494342C>T	AA873275	CCDS6876.1, CCDS43879.1, CCDS48024.1	9q34.11	2010-08-20			ENSG00000160404	ENSG00000160404			11996	protein-coding gene	gene with protein product		608052				10644435	Standard	NM_001085347		Approved	FLJ14771, TORP1	uc004brs.4	Q5JU69	OTTHUMG00000020706	ENST00000373284.5:c.937G>A	9.37:g.130494342C>T	ENSP00000362381:p.Val313Met					TOR2A_ENST00000373281.5_3'UTR|TOR2A_ENST00000472723.1_5'UTR|TOR2A_ENST00000458505.3_3'UTR|TOR2A_ENST00000336067.6_3'UTR	p.V313M	NM_001085347.2	NP_001078816.1	Q5JU69	TOR2A_HUMAN			5	983	-			313					A4FU12|A4FU13|Q3ZCN9|Q3ZCP0|Q5JU68|Q66K87|Q6UXW6|Q8NAN5|Q96SL7	Missense_Mutation	SNP	ENST00000373284.5	37	c.937G>A	CCDS43879.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.410889	0.83340	.	.	ENSG00000160404	ENST00000373284	T	0.69806	-0.43	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	D	0.84741	0.5539	M	0.87456	2.885	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.87162	0.2215	10	0.87932	D	0	-32.145	18.3949	0.90495	0.0:1.0:0.0:0.0	.	313	Q5JU69	TOR2A_HUMAN	M	313	ENSP00000362381:V313M	ENSP00000362381:V313M	V	-	1	0	TOR2A	129534163	1.000000	0.71417	0.956000	0.39512	0.607000	0.37147	4.635000	0.61332	2.585000	0.87301	0.462000	0.41574	GTG		0.627	TOR2A-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054205.1	NM_130459		43	40	0	0	0	1	0	43	40					T	130494342	C	T	130494342	3	4	257	1	0	0	0	0	1	0	0	0	16372	536	19	1	32	1	TOR2A	9	130494342	Missense_Mutation	SNP	C	TCGA-HC-A9TH-01A-11D-A41K-08	6399629	130494342	10719089	30	12057											
SARDH	1757	broad.mit.edu	37	chr9	136594963	136594963	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaccttgactccagccatcCggcccacagcacttgcccac	8	6	8	19	1	0	1	0	1	0	0	2	2	2	2	6	2	3	1	6	2	0	2	rs140509709	byFrequency	TCGA-HC-A9TH-01A-11D-A41K-08	TCGA-HC-A9TH-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3512f7-1306-483f-a744-ffefce67c8d2	8fae14ec-5bd1-4057-a5f4-a7ce7e45e5f3	g.chr9:136594963C>T	ENST00000371872.4	-	6	1096	c.839G>A	c.(838-840)cGg>cAg	p.R280Q	SARDH_ENST00000422262.2_Missense_Mutation_p.R112Q|SARDH_ENST00000298628.5_Missense_Mutation_p.R280Q|SARDH_ENST00000439388.1_Missense_Mutation_p.R280Q|SARDH_ENST00000371867.1_Missense_Mutation_p.R191Q	NM_007101.3	NP_009032.2	Q9UL12	SARDH_HUMAN	sarcosine dehydrogenase	280					glycine catabolic process (GO:0006546)	mitochondrion (GO:0005739)	aminomethyltransferase activity (GO:0004047)|sarcosine dehydrogenase activity (GO:0008480)			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(13)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	44				OV - Ovarian serous cystadenocarcinoma(145;3.21e-07)|Epithelial(140;2.37e-06)|all cancers(34;2.75e-05)		TCCAGCCATCCGGCCCACAGC	0.642													C|||	2	0.000399361	0.0015	0	5008	,	,		18893	0		0	False		,,,				2504	0					ENST00000371872.4																			0				central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(13)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	44						c.(838-840)cGg>cAg		sarcosine dehydrogenase		C	GLN/ARG,GLN/ARG	19,4387	26.2+/-53.5	0,19,2184	85	69	74		839,839	3	1	9	dbSNP_134	74	0,8600		0,0,4300	yes	missense,missense	SARDH	NM_001134707.1,NM_007101.3	43,43	0,19,6484	TT,TC,CC		0.0,0.4312,0.1461	benign,benign	280/919,280/919	136594963	19,12987	2203	4300	6503	SO:0001583	missense	1757				glycine catabolic process	mitochondrial matrix	aminomethyltransferase activity|sarcosine dehydrogenase activity	g.chr9:136594963C>T		CCDS6978.1	9q33-q34	2008-02-05			ENSG00000123453	ENSG00000123453	1.5.99.2		10536	protein-coding gene	gene with protein product		604455		DMGDHL1		10444331	Standard	NM_007101		Approved	SDH	uc004cep.4	Q9UL12	OTTHUMG00000020879	ENST00000371872.4:c.839G>A	9.37:g.136594963C>T	ENSP00000360938:p.Arg280Gln					SARDH_ENST00000298628.5_Missense_Mutation_p.R280Q|SARDH_ENST00000371867.1_Missense_Mutation_p.R191Q|SARDH_ENST00000422262.2_Missense_Mutation_p.R112Q|SARDH_ENST00000439388.1_Missense_Mutation_p.R280Q	p.R280Q	NM_007101.3	NP_009032.2	Q9UL12	SARDH_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;3.21e-07)|Epithelial(140;2.37e-06)|all cancers(34;2.75e-05)	6	1096	-			280					B2RMR5|B4DPI2|B7ZLT6|Q5SYV0|Q9Y280|Q9Y2Y3	Missense_Mutation	SNP	ENST00000371872.4	37	c.839G>A	CCDS6978.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	10.01	1.233992	0.22626	0.004312	0.0	ENSG00000123453	ENST00000371872;ENST00000439388;ENST00000422262;ENST00000427237;ENST00000539227;ENST00000535281;ENST00000371867;ENST00000393050;ENST00000298628	D;D;D;D;D	0.81821	-1.54;-1.54;-1.54;-1.54;-1.54	5.13	3.02	0.34903	FAD dependent oxidoreductase (1);	0.329365	0.31601	N	0.007362	T	0.59032	0.2164	N	0.11845	0.185	0.26294	N	0.978089	B	0.10296	0.003	B	0.12156	0.007	T	0.40365	-0.9567	10	0.13853	T	0.58	-33.5833	7.0449	0.25040	0.0:0.6246:0.0:0.3754	.	280	Q9UL12	SARDH_HUMAN	Q	280;280;112;280;280;280;191;258;280	ENSP00000360938:R280Q;ENSP00000403084:R280Q;ENSP00000415537:R112Q;ENSP00000360933:R191Q;ENSP00000298628:R280Q	ENSP00000298628:R280Q	R	-	2	0	SARDH	135584784	0.009000	0.17119	0.992000	0.48379	0.795000	0.44927	0.303000	0.19210	1.157000	0.42530	0.467000	0.42956	CGG		0.642	SARDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054931.1			4	29	0	0	0	1	0	4	29					T	136594963	C	T	136594963	3	4	257	1	0	0	0	0	1	0	0	0	13841	652	23	2	1981	2	SARDH	9	136594963	Missense_Mutation	SNP	C	TCGA-HC-A9TH-01A-11D-A41K-08	6100621	136594963	4618468	31	12058			1	30		5	5	2729	C		4.735284e-11
SARDH	1757	broad.mit.edu	37	chr9	136594988	136594988	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cacagcacttgcccacactcCtgcgggcagagcacagacag	11	4	10	16	1	0	2	0	0	0	2	1	2	1	2	2	1	4	3	2	1	0	1			TCGA-HC-A9TH-01A-11D-A41K-08	TCGA-HC-A9TH-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3512f7-1306-483f-a744-ffefce67c8d2	8fae14ec-5bd1-4057-a5f4-a7ce7e45e5f3	g.chr9:136594988C>T	ENST00000371872.4	-	6	1072		c.e6-1		SARDH_ENST00000422262.2_Splice_Site|SARDH_ENST00000298628.5_Splice_Site|SARDH_ENST00000439388.1_Splice_Site|SARDH_ENST00000371867.1_Splice_Site	NM_007101.3	NP_009032.2	Q9UL12	SARDH_HUMAN	sarcosine dehydrogenase						glycine catabolic process (GO:0006546)	mitochondrion (GO:0005739)	aminomethyltransferase activity (GO:0004047)|sarcosine dehydrogenase activity (GO:0008480)			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(13)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	44				OV - Ovarian serous cystadenocarcinoma(145;3.21e-07)|Epithelial(140;2.37e-06)|all cancers(34;2.75e-05)		GCCCACACTCCTGCGGGCAGA	0.637																																						ENST00000371872.4																			0				central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(13)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	44						c.e6-1		sarcosine dehydrogenase							64	53	57					9																	136594988		2203	4300	6503	SO:0001630	splice_region_variant	1757				glycine catabolic process	mitochondrial matrix	aminomethyltransferase activity|sarcosine dehydrogenase activity	g.chr9:136594988C>T		CCDS6978.1	9q33-q34	2008-02-05			ENSG00000123453	ENSG00000123453	1.5.99.2		10536	protein-coding gene	gene with protein product		604455		DMGDHL1		10444331	Standard	NM_007101		Approved	SDH	uc004cep.4	Q9UL12	OTTHUMG00000020879	ENST00000371872.4:c.815-1G>A	9.37:g.136594988C>T						SARDH_ENST00000298628.5_Splice_Site|SARDH_ENST00000371867.1_Splice_Site|SARDH_ENST00000422262.2_Splice_Site|SARDH_ENST00000439388.1_Splice_Site		NM_007101.3	NP_009032.2	Q9UL12	SARDH_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;3.21e-07)|Epithelial(140;2.37e-06)|all cancers(34;2.75e-05)	6	1072	-								B2RMR5|B4DPI2|B7ZLT6|Q5SYV0|Q9Y280|Q9Y2Y3	Splice_Site	SNP	ENST00000371872.4	37		CCDS6978.1	.	.	.	.	.	.	.	.	.	.	C	23.5	4.427435	0.83667	.	.	ENSG00000123453	ENST00000371872;ENST00000439388;ENST00000422262;ENST00000427237;ENST00000539227;ENST00000535281;ENST00000371867;ENST00000393050;ENST00000298628	.	.	.	4.99	4.99	0.66335	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.2711	0.90069	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SARDH	135584809	1.000000	0.71417	0.901000	0.35422	0.978000	0.69477	5.432000	0.66514	2.307000	0.77673	0.313000	0.20887	.		0.637	SARDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054931.1		Intron	4	20	0	0	0	1	0	4	20					T	136594988	C	T	136594988	5	4	257	1	0	0	0	0	0	0	1	0	13841	695	24	3	2006	3	SARDH	9	136594988	Splice_Site	SNP	C	TCGA-HC-A9TH-01A-11D-A41K-08	25	136594988	4618443	32	12059			1	30		5	5	2729	C		4.735284e-11
SARDH	1757	broad.mit.edu	37	chr9	136595289	136595289	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtccacacacgaatgccggtCactgggcagttctcaatgac	10	8	10	13	2	2	1	2	1	1	0	4	2	3	1	2	2	1	2	2	2	2	1			TCGA-HC-A9TH-01A-11D-A41K-08	TCGA-HC-A9TH-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3512f7-1306-483f-a744-ffefce67c8d2	8fae14ec-5bd1-4057-a5f4-a7ce7e45e5f3	g.chr9:136595289C>T	ENST00000371872.4	-	5	968	c.711G>A	c.(709-711)gtG>gtA	p.V237V	SARDH_ENST00000422262.2_Silent_p.V69V|SARDH_ENST00000298628.5_Silent_p.V237V|SARDH_ENST00000439388.1_Silent_p.V237V|SARDH_ENST00000371867.1_Silent_p.V148V	NM_007101.3	NP_009032.2	Q9UL12	SARDH_HUMAN	sarcosine dehydrogenase	237					glycine catabolic process (GO:0006546)	mitochondrion (GO:0005739)	aminomethyltransferase activity (GO:0004047)|sarcosine dehydrogenase activity (GO:0008480)			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(13)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	44				OV - Ovarian serous cystadenocarcinoma(145;3.21e-07)|Epithelial(140;2.37e-06)|all cancers(34;2.75e-05)		GAATGCCGGTCACTGGGCAGT	0.597																																						ENST00000371872.4																			0				central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(13)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	44						c.(709-711)gtG>gtA		sarcosine dehydrogenase							87	82	84					9																	136595289		2203	4300	6503	SO:0001819	synonymous_variant	1757				glycine catabolic process	mitochondrial matrix	aminomethyltransferase activity|sarcosine dehydrogenase activity	g.chr9:136595289C>T		CCDS6978.1	9q33-q34	2008-02-05			ENSG00000123453	ENSG00000123453	1.5.99.2		10536	protein-coding gene	gene with protein product		604455		DMGDHL1		10444331	Standard	NM_007101		Approved	SDH	uc004cep.4	Q9UL12	OTTHUMG00000020879	ENST00000371872.4:c.711G>A	9.37:g.136595289C>T						SARDH_ENST00000298628.5_Silent_p.V237V|SARDH_ENST00000371867.1_Silent_p.V148V|SARDH_ENST00000422262.2_Silent_p.V69V|SARDH_ENST00000439388.1_Silent_p.V237V	p.V237V	NM_007101.3	NP_009032.2	Q9UL12	SARDH_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;3.21e-07)|Epithelial(140;2.37e-06)|all cancers(34;2.75e-05)	5	968	-			237					B2RMR5|B4DPI2|B7ZLT6|Q5SYV0|Q9Y280|Q9Y2Y3	Silent	SNP	ENST00000371872.4	37	c.711G>A	CCDS6978.1																																																																																				0.597	SARDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054931.1			3	37	0	0	0	1	0	3	37					T	136595289	C	T	136595289	2	4	257	1	0	0	0	0	0	0	0	1	13841	813	29	3		3	SARDH	9	136595289	Silent	SNP	C	TCGA-HC-A9TH-01A-11D-A41K-08	301	136595289	4618142	33	12060			1	30		5	5	2729	C		4.735284e-11
SARDH	1757	broad.mit.edu	37	chr9	136596528	136596528	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	cagggtcccgtagaggtcgtCcacattcatcagcgggtaca	9	8	12	12	3	2	1	2	0	0	1	5	1	4	1	2	3	2	2	2	3	2	3			TCGA-HC-A9TH-01A-11D-A41K-08	TCGA-HC-A9TH-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3512f7-1306-483f-a744-ffefce67c8d2	8fae14ec-5bd1-4057-a5f4-a7ce7e45e5f3	g.chr9:136596528C>G	ENST00000371872.4	-	4	846	c.589G>C	c.(589-591)Gac>Cac	p.D197H	SARDH_ENST00000422262.2_Missense_Mutation_p.D29H|SARDH_ENST00000298628.5_Missense_Mutation_p.D197H|SARDH_ENST00000439388.1_Missense_Mutation_p.D197H|SARDH_ENST00000371867.1_Missense_Mutation_p.D108H	NM_007101.3	NP_009032.2	Q9UL12	SARDH_HUMAN	sarcosine dehydrogenase	197					glycine catabolic process (GO:0006546)	mitochondrion (GO:0005739)	aminomethyltransferase activity (GO:0004047)|sarcosine dehydrogenase activity (GO:0008480)			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(13)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	44				OV - Ovarian serous cystadenocarcinoma(145;3.21e-07)|Epithelial(140;2.37e-06)|all cancers(34;2.75e-05)		TAGAGGTCGTCCACATTCATC	0.632																																						ENST00000371872.4																			0				central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(13)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	44						c.(589-591)Gac>Cac		sarcosine dehydrogenase							135	122	127					9																	136596528		2203	4300	6503	SO:0001583	missense	1757				glycine catabolic process	mitochondrial matrix	aminomethyltransferase activity|sarcosine dehydrogenase activity	g.chr9:136596528C>G		CCDS6978.1	9q33-q34	2008-02-05			ENSG00000123453	ENSG00000123453	1.5.99.2		10536	protein-coding gene	gene with protein product		604455		DMGDHL1		10444331	Standard	NM_007101		Approved	SDH	uc004cep.4	Q9UL12	OTTHUMG00000020879	ENST00000371872.4:c.589G>C	9.37:g.136596528C>G	ENSP00000360938:p.Asp197His					SARDH_ENST00000298628.5_Missense_Mutation_p.D197H|SARDH_ENST00000371867.1_Missense_Mutation_p.D108H|SARDH_ENST00000422262.2_Missense_Mutation_p.D29H|SARDH_ENST00000439388.1_Missense_Mutation_p.D197H	p.D197H	NM_007101.3	NP_009032.2	Q9UL12	SARDH_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;3.21e-07)|Epithelial(140;2.37e-06)|all cancers(34;2.75e-05)	4	846	-			197					B2RMR5|B4DPI2|B7ZLT6|Q5SYV0|Q9Y280|Q9Y2Y3	Missense_Mutation	SNP	ENST00000371872.4	37	c.589G>C	CCDS6978.1	.	.	.	.	.	.	.	.	.	.	C	24.9	4.584337	0.86748	.	.	ENSG00000123453	ENST00000371872;ENST00000439388;ENST00000422262;ENST00000427237;ENST00000539227;ENST00000535281;ENST00000371867;ENST00000393050;ENST00000298628	D;D;D;D;D	0.82711	-1.64;-1.64;-1.64;-1.64;-1.64	5.19	5.19	0.71726	FAD dependent oxidoreductase (1);	0.259771	0.43416	D	0.000579	D	0.88258	0.6388	L	0.54965	1.715	0.53005	D	0.999964	P	0.46621	0.881	P	0.58577	0.841	D	0.88206	0.2887	10	0.51188	T	0.08	-25.914	18.6935	0.91592	0.0:1.0:0.0:0.0	.	197	Q9UL12	SARDH_HUMAN	H	197;197;29;197;197;197;108;175;197	ENSP00000360938:D197H;ENSP00000403084:D197H;ENSP00000415537:D29H;ENSP00000360933:D108H;ENSP00000298628:D197H	ENSP00000298628:D197H	D	-	1	0	SARDH	135586349	1.000000	0.71417	0.990000	0.47175	0.891000	0.51852	2.465000	0.45075	2.405000	0.81733	0.591000	0.81541	GAC		0.632	SARDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054931.1			5	31	0	0	0	1	0	5	31					G	136596528	C	G	136596528	3	3	257	1	0	0	0	0	1	0	0	0	13841	855	30	5	2239	5	SARDH	9	136596528	Missense_Mutation	SNP	C	TCGA-HC-A9TH-01A-11D-A41K-08	1239	136596528	4616903	34	12061			1	30		5	5	2729	C		4.735284e-11
SARDH	1757	broad.mit.edu	37	chr9	136597691	136597691	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gtgggccagaagctccacctCcacgtcactgggccgcagct	7	6	12	16	2	1	1	1	0	0	1	3	1	3	1	5	2	2	3	5	2	1	0			TCGA-HC-A9TH-01A-11D-A41K-08	TCGA-HC-A9TH-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3512f7-1306-483f-a744-ffefce67c8d2	8fae14ec-5bd1-4057-a5f4-a7ce7e45e5f3	g.chr9:136597691C>A	ENST00000371872.4	-	3	621	c.364G>T	c.(364-366)Gag>Tag	p.E122*	SARDH_ENST00000422262.2_5'UTR|SARDH_ENST00000298628.5_Nonsense_Mutation_p.E122*|SARDH_ENST00000439388.1_Nonsense_Mutation_p.E122*|SARDH_ENST00000371867.1_Nonsense_Mutation_p.E33*	NM_007101.3	NP_009032.2	Q9UL12	SARDH_HUMAN	sarcosine dehydrogenase	122					glycine catabolic process (GO:0006546)	mitochondrion (GO:0005739)	aminomethyltransferase activity (GO:0004047)|sarcosine dehydrogenase activity (GO:0008480)			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(13)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	44				OV - Ovarian serous cystadenocarcinoma(145;3.21e-07)|Epithelial(140;2.37e-06)|all cancers(34;2.75e-05)		AGCTCCACCTCCACGTCACTG	0.662																																						ENST00000371872.4																			0				central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(13)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	44						c.(364-366)Gag>Tag		sarcosine dehydrogenase							59	59	59					9																	136597691		2203	4300	6503	SO:0001587	stop_gained	1757				glycine catabolic process	mitochondrial matrix	aminomethyltransferase activity|sarcosine dehydrogenase activity	g.chr9:136597691C>A		CCDS6978.1	9q33-q34	2008-02-05			ENSG00000123453	ENSG00000123453	1.5.99.2		10536	protein-coding gene	gene with protein product		604455		DMGDHL1		10444331	Standard	NM_007101		Approved	SDH	uc004cep.4	Q9UL12	OTTHUMG00000020879	ENST00000371872.4:c.364G>T	9.37:g.136597691C>A	ENSP00000360938:p.Glu122*					SARDH_ENST00000298628.5_Nonsense_Mutation_p.E122*|SARDH_ENST00000371867.1_Nonsense_Mutation_p.E33*|SARDH_ENST00000422262.2_5'UTR|SARDH_ENST00000439388.1_Nonsense_Mutation_p.E122*	p.E122*	NM_007101.3	NP_009032.2	Q9UL12	SARDH_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;3.21e-07)|Epithelial(140;2.37e-06)|all cancers(34;2.75e-05)	3	621	-			122					B2RMR5|B4DPI2|B7ZLT6|Q5SYV0|Q9Y280|Q9Y2Y3	Nonsense_Mutation	SNP	ENST00000371872.4	37	c.364G>T	CCDS6978.1	.	.	.	.	.	.	.	.	.	.	C	39	7.579485	0.98371	.	.	ENSG00000123453	ENST00000371872;ENST00000439388;ENST00000427237;ENST00000539227;ENST00000535281;ENST00000371867;ENST00000393050;ENST00000298628	.	.	.	4.32	4.32	0.51571	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.41790	T	0.15	-33.19	16.7821	0.85565	0.0:1.0:0.0:0.0	.	.	.	.	X	122;122;122;122;122;33;100;122	.	ENSP00000298628:E122X	E	-	1	0	SARDH	135587512	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.304000	0.78882	1.942000	0.56320	0.462000	0.41574	GAG		0.662	SARDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054931.1			6	66	1	0	0.000673444	1	0.000693547	6	66					A	136597691	C	A	136597691	4	1	257	1	0	0	0	0	0	1	0	0	13841	864	30	5	2468	5	SARDH	9	136597691	Nonsense_Mutation	SNP	C	TCGA-HC-A9TH-01A-11D-A41K-08	1163	136597691	4615740	35	12062			1	30		5	5	2729	C		4.735284e-11
CACNA1B	774	broad.mit.edu	37	chr9	140943691	140943691	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgggactgctgcttcaccctGgagcctatttccgggacttg	5	12	12	12	1	1	0	1	0	0	0	2	3	2	3	3	3	3	2	3	3	1	4			TCGA-HC-A9TH-01A-11D-A41K-08	TCGA-HC-A9TH-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3512f7-1306-483f-a744-ffefce67c8d2	8fae14ec-5bd1-4057-a5f4-a7ce7e45e5f3	g.chr9:140943691G>A	ENST00000371372.1	+	24	3779	c.3634G>A	c.(3634-3636)Gga>Aga	p.G1212R	CACNA1B_ENST00000371363.1_Missense_Mutation_p.G1212R|CACNA1B_ENST00000371355.4_Missense_Mutation_p.G1213R|CACNA1B_ENST00000545473.1_3'UTR|CACNA1B_ENST00000277549.5_Missense_Mutation_p.G404R|CACNA1B_ENST00000277551.2_Missense_Mutation_p.G1212R|CACNA1B_ENST00000371357.1_Missense_Mutation_p.G1213R	NM_000718.3|NM_001243812.1	NP_000709.1|NP_001230741.1	Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	1212					calcium ion import (GO:0070509)|locomotory behavior (GO:0007626)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|neurotransmitter secretion (GO:0007269)|regulation of blood pressure (GO:0008217)|regulation of calcium ion transport (GO:0051924)|regulation of heart contraction (GO:0008016)|response to pain (GO:0048265)|synaptic transmission (GO:0007268)|transport (GO:0006810)	dendrite (GO:0030425)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|protein C-terminus binding (GO:0008022)|voltage-gated calcium channel activity (GO:0005245)			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)|Levetiracetam(DB01202)|Spironolactone(DB00421)|Verapamil(DB00661)	GCTTCACCCTGGAGCCTATTT	0.532																																						ENST00000277549.5																			0				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80						c.(1210-1212)Gga>Aga		calcium channel, voltage-dependent, N type, alpha 1B subunit	Amlodipine(DB00381)|Gabapentin(DB00996)						168	169	169					9																	140943691		2060	4197	6257	SO:0001583	missense	774				membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity	g.chr9:140943691G>A	AB209467	CCDS59522.1, CCDS59523.1	9q34	2013-01-10	2007-02-16		ENSG00000148408	ENSG00000148408		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels", "EF-hand domain containing"	1389	protein-coding gene	gene with protein product		601012		CACNL1A5		8825650, 16382099	Standard	NM_000718		Approved	Cav2.2, CACNN	uc004cog.3	Q00975	OTTHUMG00000021002	ENST00000371372.1:c.3634G>A	9.37:g.140943691G>A	ENSP00000360423:p.Gly1212Arg					CACNA1B_ENST00000371357.1_Missense_Mutation_p.G1213R|CACNA1B_ENST00000371372.1_Missense_Mutation_p.G1212R|CACNA1B_ENST00000277551.2_Missense_Mutation_p.G1212R|CACNA1B_ENST00000545473.1_3'UTR|CACNA1B_ENST00000371355.4_Missense_Mutation_p.G1213R|CACNA1B_ENST00000371363.1_Missense_Mutation_p.G1212R	p.G404R			Q00975	CAC1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	24	3779	+	all_cancers(76;0.166)		1212					B1AQK5	Missense_Mutation	SNP	ENST00000371372.1	37	c.1210G>A	CCDS59522.1	.	.	.	.	.	.	.	.	.	.	G	25.7	4.667917	0.88348	.	.	ENSG00000148408	ENST00000371372;ENST00000277551;ENST00000277549;ENST00000371363;ENST00000371357;ENST00000371355	D;D;D;D;D;D	0.98280	-4.84;-4.84;-4.84;-4.84;-4.84;-4.84	5.13	5.13	0.70059	.	0.000000	0.85682	D	0.000000	D	0.98776	0.9588	M	0.72353	2.195	0.80722	D	1	D;D;D	0.89917	0.979;1.0;1.0	D;D;D	0.91635	0.943;0.999;0.999	D	0.99897	1.1149	10	0.87932	D	0	.	18.1658	0.89724	0.0:0.0:1.0:0.0	.	1212;1213;1212	B1AQK4;B1AQK7;B1AQK6	.;.;.	R	1212;1212;404;1212;1213;1213	ENSP00000360423:G1212R;ENSP00000277551:G1212R;ENSP00000277549:G404R;ENSP00000360414:G1212R;ENSP00000360408:G1213R;ENSP00000360406:G1213R	ENSP00000277549:G404R	G	+	1	0	CACNA1B	140063512	1.000000	0.71417	0.998000	0.56505	0.823000	0.46562	9.711000	0.98735	2.386000	0.81285	0.491000	0.48974	GGA		0.532	CACNA1B-001	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055380.1	NM_000718		3	44	0	0	0	1	0	3	44					A	140943691	G	A	140943691	3	1	257	1	0	0	0	0	1	0	0	0	2539	1349	47	3	3728	3	CACNA1B	9	140943691	Missense_Mutation	SNP	G	TCGA-HC-A9TH-01A-11D-A41K-08	4346000	140943691	269740	36	12063											
UCMA	221044	broad.mit.edu	37	chr10	13275576	13275576	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acttgggggaccgcttgccgCgcctcttgaggaaattcgag	7	9	14	11	4	1	1	0	1	1	0	2	4	1	3	3	3	1	1	3	3	1	4	rs377345564		TCGA-HC-A9TH-01A-11D-A41K-08	TCGA-HC-A9TH-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3512f7-1306-483f-a744-ffefce67c8d2	8fae14ec-5bd1-4057-a5f4-a7ce7e45e5f3	g.chr10:13275576C>T	ENST00000378681.3	-	3	254	c.182G>A	c.(181-183)cGc>cAc	p.R61H	UCMA_ENST00000463405.2_Missense_Mutation_p.R39H	NM_145314.1	NP_660357.2	Q8WVF2	UCMA_HUMAN	upper zone of growth plate and cartilage matrix associated	61					negative regulation of osteoblast differentiation (GO:0045668)	aggresome (GO:0016235)|extracellular space (GO:0005615)|perinuclear region of cytoplasm (GO:0048471)|proteinaceous extracellular matrix (GO:0005578)				breast(2)|endometrium(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)	9						CCGCTTGCCGCGCCTCTTGAG	0.582																																						ENST00000378681.3																			0				breast(2)|endometrium(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)	9						c.(181-183)cGc>cAc		upper zone of growth plate and cartilage matrix associated		C	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	85	89	88		182	2.4	0	10		88	1,8599	1.2+/-3.3	0,1,4299	no	missense	UCMA	NM_145314.1	29	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	benign	61/139	13275576	2,13004	2203	4300	6503	SO:0001583	missense	221044					proteinaceous extracellular matrix		g.chr10:13275576C>T	BC018068	CCDS31147.1	10p13	2009-03-25	2009-03-25	2009-03-25	ENSG00000165623	ENSG00000165623			25205	protein-coding gene	gene with protein product			"chromosome 10 open reading frame 49"	C10orf49		12477932	Standard	NM_145314		Approved		uc001imd.3	Q8WVF2	OTTHUMG00000017692	ENST00000378681.3:c.182G>A	10.37:g.13275576C>T	ENSP00000367952:p.Arg61His					UCMA_ENST00000463405.2_Missense_Mutation_p.R39H	p.R61H	NM_145314.1	NP_660357.2	Q8WVF2	UCMA_HUMAN			3	254	-			61						Missense_Mutation	SNP	ENST00000378681.3	37	c.182G>A	CCDS31147.1	.	.	.	.	.	.	.	.	.	.	C	14.77	2.634208	0.47049	2.27E-4	1.16E-4	ENSG00000165623	ENST00000378681	.	.	.	5.3	2.38	0.29361	.	0.107264	0.64402	N	0.000007	T	0.47563	0.1452	L	0.58428	1.81	0.46149	D	0.998899	B	0.29805	0.257	B	0.26202	0.067	T	0.39251	-0.9623	9	0.59425	D	0.04	-7.4447	5.8083	0.18452	0.1541:0.6815:0.0:0.1644	.	61	Q8WVF2	UCMA_HUMAN	H	61	.	ENSP00000367952:R61H	R	-	2	0	UCMA	13315582	0.424000	0.25490	0.043000	0.18650	0.929000	0.56500	0.729000	0.26028	0.222000	0.20900	0.655000	0.94253	CGC		0.582	UCMA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046843.2	NM_145314		42	63	0	0	0	1	0	42	63					T	13275576	C	T	13275576	3	4	257	1	0	0	0	0	1	0	0	0	16923	768	27	1	246	1	UCMA	10	13275576	Missense_Mutation	SNP	C	TCGA-HC-A9TH-01A-11D-A41K-08		13275576	122259171	37	12064											
CPN1	1369	broad.mit.edu	37	chr10	101835691	101835691	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcagcagccacctcgtagcCgtcggggttcatggatggca	7	7	15	12	3	1	0	1	0	0	0	3	1	1	1	3	5	3	5	3	5	1	2			TCGA-HC-A9TH-01A-11D-A41K-08	TCGA-HC-A9TH-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3512f7-1306-483f-a744-ffefce67c8d2	8fae14ec-5bd1-4057-a5f4-a7ce7e45e5f3	g.chr10:101835691C>T	ENST00000370418.3	-	2	648	c.397G>A	c.(397-399)Ggc>Agc	p.G133S		NM_001308.2	NP_001299.1	P15169	CBPN_HUMAN	carboxypeptidase N, polypeptide 1	133	Catalytic.				response to glucocorticoid (GO:0051384)	extracellular space (GO:0005615)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	33		Colorectal(252;0.234)		Epithelial(162;4.77e-10)|all cancers(201;3.82e-08)		ACCTCGTAGCCGTCGGGGTTC	0.577																																						ENST00000370418.3																			0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	33						c.(397-399)Ggc>Agc		carboxypeptidase N, polypeptide 1							94	83	87					10																	101835691		2203	4300	6503	SO:0001583	missense	1369				proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding	g.chr10:101835691C>T	X14329	CCDS7486.1	10q24.2	2012-02-10	2007-02-23		ENSG00000120054	ENSG00000120054	3.4.17.3		2312	protein-coding gene	gene with protein product	"anaphylatoxin inactivator", "arginine carboxypeptidase", "carboxypeptidase K", "kininase I", "lysine carboxypeptidase"	603103	"carboxypeptidase N, polypeptide 1, 50kD"			9628828, 2912725	Standard	NM_001308		Approved		uc001kql.2	P15169	OTTHUMG00000018896	ENST00000370418.3:c.397G>A	10.37:g.101835691C>T	ENSP00000359446:p.Gly133Ser						p.G133S	NM_001308.2	NP_001299.1	P15169	CBPN_HUMAN		Epithelial(162;4.77e-10)|all cancers(201;3.82e-08)	2	648	-		Colorectal(252;0.234)	133			Catalytic.		B1AP59	Missense_Mutation	SNP	ENST00000370418.3	37	c.397G>A	CCDS7486.1	.	.	.	.	.	.	.	.	.	.	C	35	5.462668	0.96240	.	.	ENSG00000120054	ENST00000370418	T	0.58210	0.35	5.74	5.74	0.90152	Peptidase M14, carboxypeptidase A (2);	0.046359	0.85682	D	0.000000	T	0.81702	0.4878	H	0.94345	3.525	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.86168	0.1598	10	0.87932	D	0	-17.1198	19.9353	0.97137	0.0:1.0:0.0:0.0	.	133	P15169	CBPN_HUMAN	S	133	ENSP00000359446:G133S	ENSP00000359446:G133S	G	-	1	0	CPN1	101825681	1.000000	0.71417	0.998000	0.56505	0.626000	0.37791	7.815000	0.86186	2.724000	0.93272	0.655000	0.94253	GGC		0.577	CPN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049828.1	NM_001308		6	21	0	0	0	1	0	6	21					T	101835691	C	T	101835691	3	4	257	1	0	0	0	0	1	0	0	0	3809	652	23	2	1011	2	CPN1	10	101835691	Missense_Mutation	SNP	C	TCGA-HC-A9TH-01A-11D-A41K-08	88560115	101835691	33699056	38	12065											
MUC2	4583	broad.mit.edu	37	chr11	1086413	1086413	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgagccctgcagcctgaaccCgcaccgccgctcctgggccg	5	4	12	20	5	0	1	0	1	0	0	1	2	1	1	7	1	4	3	7	1	1	0			TCGA-HC-A9TH-01A-11D-A41K-08	TCGA-HC-A9TH-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3512f7-1306-483f-a744-ffefce67c8d2	8fae14ec-5bd1-4057-a5f4-a7ce7e45e5f3	g.chr11:1086413C>T	ENST00000441003.2	+	23	3149	c.3122C>T	c.(3121-3123)cCg>cTg	p.P1041L	MUC2_ENST00000359061.5_Missense_Mutation_p.P1041L	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	1041	VWFD 3. {ECO:0000255|PROSITE- ProRule:PRU00580}.				cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi lumen (GO:0005796)|inner mucus layer (GO:0070702)|outer mucus layer (GO:0070703)				NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	AGCCTGAACCCGCACCGCCGC	0.657																																						ENST00000441003.2																			0				NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102						c.(3121-3123)cCg>cTg		mucin 2, oligomeric mucus/gel-forming	Pranlukast(DB01411)						20	29	26					11																	1086413		2078	4195	6273	SO:0001583	missense	4583					inner mucus layer|outer mucus layer	protein binding	g.chr11:1086413C>T	L21998		11p15.5	2011-01-28	2006-03-14		ENSG00000198788	ENSG00000198788		"Mucins"	7512	protein-coding gene	gene with protein product		158370	"mucin 2, intestinal/tracheal"			15081123	Standard	NM_002457		Approved		uc001lsx.1	Q02817	OTTHUMG00000156800	ENST00000441003.2:c.3122C>T	11.37:g.1086413C>T	ENSP00000415183:p.Pro1041Leu					MUC2_ENST00000359061.5_Missense_Mutation_p.P1041L	p.P1041L	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	23	3149	+		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)	1041			VWFD 3.		Q14878	Missense_Mutation	SNP	ENST00000441003.2	37	c.3122C>T		.	.	.	.	.	.	.	.	.	.	c	14.56	2.573275	0.45902	.	.	ENSG00000198788	ENST00000441003;ENST00000359061	T;T	0.15834	2.5;2.39	3.56	2.62	0.31277	.	0.198350	0.32218	U	0.006403	T	0.26122	0.0637	L	0.46157	1.445	0.40519	D	0.980816	D	0.60575	0.988	P	0.55303	0.773	T	0.02958	-1.1089	10	0.48119	T	0.1	.	13.1569	0.59522	0.0:0.8379:0.1621:0.0	.	1041	E7EUV1	.	L	1041	ENSP00000415183:P1041L;ENSP00000351956:P1041L	ENSP00000351956:P1041L	P	+	2	0	MUC2	1076413	0.540000	0.26410	0.020000	0.16555	0.994000	0.84299	2.440000	0.44855	0.812000	0.34326	0.479000	0.44913	CCG		0.657	MUC2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000345894.2	NM_002457		4	7	0	0	0	1	0	4	7					T	1086413	C	T	1086413	3	4	257	1	0	0	0	0	1	0	0	0	9975	652	23	2	3212	2	MUC2	11	1086413	Missense_Mutation	SNP	C	TCGA-HC-A9TH-01A-11D-A41K-08		1086413	133920103	39	12066											
CREB3L1	90993	broad.mit.edu	37	chr11	46333948	46333948	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ccctgattgctgagggctacCccatccccacaaaactcccc	9	7	6	19	0	0	2	0	2	0	0	2	2	2	2	7	1	3	2	7	1	3	2			TCGA-HC-A9TH-01A-11D-A41K-08	TCGA-HC-A9TH-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3512f7-1306-483f-a744-ffefce67c8d2	8fae14ec-5bd1-4057-a5f4-a7ce7e45e5f3	g.chr11:46333948C>A	ENST00000529193.1	+	6	1277	c.826C>A	c.(826-828)Ccc>Acc	p.P276T	CREB3L1_ENST00000288400.3_Missense_Mutation_p.P276T			Q96BA8	CR3L1_HUMAN	cAMP responsive element binding protein 3-like 1	276					regulation of bone mineralization (GO:0030500)|response to unfolded protein (GO:0006986)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)		FUS/CREB3L1(6)	NS(2)|breast(1)|large_intestine(4)|lung(2)|ovary(3)	12				GBM - Glioblastoma multiforme(35;0.0285)		TGAGGGCTACCCCATCCCCAC	0.547			T	FUS	myxofibrosarcoma																																Pancreas(3;159 194 19597 26278 47995)	ENST00000529193.1				Dom	yes		11	11p11.2	90993	T	cAMP responsive element binding protein 3-like 1			M	FUS		myxofibrosarcoma	FUS/CREB3L1(6)	0				NS(2)|breast(1)|large_intestine(4)|lung(2)|ovary(3)	12						c.(826-828)Ccc>Acc		cAMP responsive element binding protein 3-like 1							37	41	40					11																	46333948		2156	4282	6438	SO:0001583	missense	90993				response to unfolded protein	endoplasmic reticulum membrane|integral to membrane|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr11:46333948C>A		CCDS53620.1	11q11	2013-01-10				ENSG00000157613		"basic leucine zipper proteins"	18856	protein-coding gene	gene with protein product	"BBF-2 homolog (drosophila)"						Standard	NM_052854		Approved	OASIS	uc021qil.1	Q96BA8		ENST00000529193.1:c.826C>A	11.37:g.46333948C>A	ENSP00000434939:p.Pro276Thr					CREB3L1_ENST00000288400.3_Missense_Mutation_p.P276T	p.P276T			Q96BA8	CR3L1_HUMAN		GBM - Glioblastoma multiforme(35;0.0285)	6	1277	+			276					Q8N2D5|Q96CP0	Missense_Mutation	SNP	ENST00000529193.1	37	c.826C>A	CCDS53620.1	.	.	.	.	.	.	.	.	.	.	C	14.44	2.535807	0.45176	.	.	ENSG00000157613	ENST00000529193;ENST00000288400;ENST00000446415;ENST00000530518	T;T;T	0.75821	-0.97;-0.97;-0.97	4.59	4.59	0.56863	Eukaryotic transcription factor, Skn-1-like, DNA-binding (1);	0.114427	0.64402	D	0.000009	D	0.82300	0.5007	M	0.68593	2.085	0.80722	D	1	D	0.69078	0.997	P	0.60789	0.879	T	0.79794	-0.1653	10	0.23891	T	0.37	0.1743	17.5884	0.87989	0.0:1.0:0.0:0.0	.	276	Q96BA8	CR3L1_HUMAN	T	276;276;188;36	ENSP00000434939:P276T;ENSP00000288400:P276T;ENSP00000436574:P36T	ENSP00000288400:P276T	P	+	1	0	CREB3L1	46290524	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.651000	0.83577	2.392000	0.81423	0.563000	0.77884	CCC		0.547	CREB3L1-001	KNOWN	non_canonical_genome_sequence_error|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389702.1	NM_052854		4	22	1	0	0.00024832	1	0.000263601	4	22					A	46333948	C	A	46333948	3	1	257	1	0	0	0	0	1	0	0	0	3856	623	22	5	848	5	CREB3L1	11	46333948	Missense_Mutation	SNP	C	TCGA-HC-A9TH-01A-11D-A41K-08	45247535	46333948	88672568	40	12067											
NTF3	4908	broad.mit.edu	37	chr12	5603787	5603787	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggcgaacagaacatcacggcGgaaacggtacgcggagcata	14	3	14	10	6	1	1	1	0	0	1	1	4	1	3	0	5	5	2	0	5	5	2			TCGA-HC-A9TH-01A-11D-A41K-08	TCGA-HC-A9TH-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3512f7-1306-483f-a744-ffefce67c8d2	8fae14ec-5bd1-4057-a5f4-a7ce7e45e5f3	g.chr12:5603787G>A	ENST00000331010.6	+	1	490	c.407G>A	c.(406-408)cGg>cAg	p.R136Q	NTF3_ENST00000535299.1_Intron|NTF3_ENST00000423158.3_Missense_Mutation_p.R149Q	NM_002527.4	NP_002518.1	P20783	NTF3_HUMAN	neurotrophin 3	136					activation of MAPK activity (GO:0000187)|activation of protein kinase B activity (GO:0032148)|activation of Ras GTPase activity (GO:0032856)|axon guidance (GO:0007411)|brain development (GO:0007420)|cell-cell signaling (GO:0007267)|enteric nervous system development (GO:0048484)|epidermis development (GO:0008544)|glial cell fate determination (GO:0007403)|induction of positive chemotaxis (GO:0050930)|mechanoreceptor differentiation (GO:0042490)|myelination (GO:0042552)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of peptidyl-tyrosine phosphorylation (GO:0050732)|nerve development (GO:0021675)|nervous system development (GO:0007399)|neuromuscular synaptic transmission (GO:0007274)|peripheral nervous system development (GO:0007422)|positive chemotaxis (GO:0050918)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of glial cell differentiation (GO:0045687)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of receptor internalization (GO:0002092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of synaptic transmission (GO:0050804)|signal transduction (GO:0007165)|smooth muscle cell differentiation (GO:0051145)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytoplasmic membrane-bounded vesicle (GO:0016023)|extracellular region (GO:0005576)	chemoattractant activity (GO:0042056)|growth factor activity (GO:0008083)|receptor binding (GO:0005102)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(3)|upper_aerodigestive_tract(1)	22						ACATCACGGCGGAAACGGTAC	0.607																																					GBM(194;1104 2182 8339 9578 18493)	ENST00000423158.3																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(3)|upper_aerodigestive_tract(1)	22						c.(445-447)cGg>cAg		neurotrophin 3							90	84	86					12																	5603787		2203	4300	6503	SO:0001583	missense	4908				signal transduction	extracellular region	growth factor activity|neurotrophin receptor binding	g.chr12:5603787G>A		CCDS8538.1, CCDS44806.1	12p13	2014-01-30			ENSG00000185652	ENSG00000185652		"Endogenous ligands"	8023	protein-coding gene	gene with protein product		162660				1889806	Standard	NM_002527		Approved	NGF2	uc001qnk.4	P20783	OTTHUMG00000168649	ENST00000331010.6:c.407G>A	12.37:g.5603787G>A	ENSP00000328738:p.Arg136Gln					NTF3_ENST00000331010.6_Missense_Mutation_p.R136Q|NTF3_ENST00000535299.1_Intron	p.R149Q	NM_001102654.1	NP_001096124.1	P20783	NTF3_HUMAN			2	658	+			136					B7Z1T5|Q6FH50	Missense_Mutation	SNP	ENST00000331010.6	37	c.446G>A	CCDS8538.1	.	.	.	.	.	.	.	.	.	.	G	16.06	3.015954	0.54468	.	.	ENSG00000185652	ENST00000423158;ENST00000331010	T;T	0.42131	0.98;0.98	5.52	5.52	0.82312	.	0.116733	0.53938	D	0.000044	T	0.38746	0.1052	L	0.52011	1.625	0.46078	D	0.998851	B;B	0.31209	0.313;0.313	B;B	0.14578	0.011;0.007	T	0.23511	-1.0186	10	0.49607	T	0.09	-13.1644	18.4188	0.90582	0.0:0.0:1.0:0.0	.	136;149	P20783;B7Z1T5	NTF3_HUMAN;.	Q	149;136	ENSP00000397297:R149Q;ENSP00000328738:R136Q	ENSP00000328738:R136Q	R	+	2	0	NTF3	5474048	1.000000	0.71417	0.993000	0.49108	0.934000	0.57294	6.096000	0.71446	2.610000	0.88304	0.591000	0.81541	CGG		0.607	NTF3-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000400486.1			12	43	0	0	0	1	0	12	43					A	5603787	G	A	5603787	3	1	257	1	0	0	0	0	1	0	0	0	10696	1116	39	2	452	2	NTF3	12	5603787	Missense_Mutation	SNP	G	TCGA-HC-A9TH-01A-11D-A41K-08		5603787	128248108	41	12068											
GRIN2B	2904	broad.mit.edu	37	chr12	13769401	13769401	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgccatactcagtgactatgCgtttttggcaggggactgtg	7	13	13	8	1	1	1	1	1	0	0	1	2	1	2	1	3	3	2	1	3	2	4			TCGA-HC-A9TH-01A-11D-A41K-08	TCGA-HC-A9TH-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3512f7-1306-483f-a744-ffefce67c8d2	8fae14ec-5bd1-4057-a5f4-a7ce7e45e5f3	g.chr12:13769401C>T	ENST00000609686.1	-	5	1525	c.1316G>A	c.(1315-1317)cGc>cAc	p.R439H		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	439					behavioral fear response (GO:0001662)|behavioral response to pain (GO:0048266)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|glutamate receptor signaling pathway (GO:0007215)|in utero embryonic development (GO:0001701)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning (GO:0007612)|learning or memory (GO:0007611)|memory (GO:0007613)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of synaptic plasticity (GO:0048167)|response to ethanol (GO:0045471)|sensory organ development (GO:0007423)|startle response (GO:0001964)|suckling behavior (GO:0001967)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)	p.R439H(1)		NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Haloperidol(DB00502)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	AGTGACTATGCGTTTTTGGCA	0.532																																						ENST00000279593.3																			1	Substitution - Missense(1)	p.R439H(1)	lung(1)	NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143						c.(1315-1317)cGc>cAc		glutamate receptor, ionotropic, N-methyl D-aspartate 2B	Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)						150	118	129					12																	13769401		2203	4300	6503	SO:0001583	missense	2904				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	g.chr12:13769401C>T		CCDS8662.1	12p13.1	2014-07-16			ENSG00000273079			"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4586	protein-coding gene	gene with protein product		138252		NMDAR2B		1350383	Standard	NM_000834		Approved	GluN2B	uc001rbt.2	Q13224	OTTHUMG00000137373	ENST00000609686.1:c.1316G>A	12.37:g.13769401C>T	ENSP00000477455:p.Arg439His						p.R439H	NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN			5	1525	-			439					Q12919|Q13220|Q13225|Q14CU4|Q9UM56	Missense_Mutation	SNP	ENST00000609686.1	37	c.1316G>A	CCDS8662.1	.	.	.	.	.	.	.	.	.	.	C	11.41	1.631256	0.28978	.	.	ENSG00000150086	ENST00000279593	T	0.11277	2.79	5.53	5.53	0.82687	Ionotropic glutamate receptor (1);	0.058685	0.64402	D	0.000001	T	0.03783	0.0107	N	0.01352	-0.895	0.49389	D	0.999782	B	0.06786	0.001	B	0.06405	0.002	T	0.48234	-0.9053	10	0.13108	T	0.6	.	12.7632	0.57376	0.0:0.9251:0.0:0.0749	.	439	Q13224	NMDE2_HUMAN	H	439	ENSP00000279593:R439H	ENSP00000279593:R439H	R	-	2	0	GRIN2B	13660668	1.000000	0.71417	0.986000	0.45419	0.947000	0.59692	5.400000	0.66320	2.579000	0.87056	0.563000	0.77884	CGC		0.532	GRIN2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268014.2			14	33	0	0	0	1	0	14	33					T	13769401	C	T	13769401	3	4	257	1	0	0	0	0	1	0	0	0	6780	768	27	1	3174	1	GRIN2B	12	13769401	Missense_Mutation	SNP	C	TCGA-HC-A9TH-01A-11D-A41K-08	8165614	13769401	120082494	42	12069											
ARNTL2	56938	broad.mit.edu	37	chr12	27542200	27542200	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actttcttcttttgatatttCaccaagagaaaagctaatag	14	15	5	7	0	3	2	1	1	2	1	3	3	3	2	1	0	1	1	1	0	6	8			TCGA-HC-A9TH-01A-11D-A41K-08	TCGA-HC-A9TH-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3512f7-1306-483f-a744-ffefce67c8d2	8fae14ec-5bd1-4057-a5f4-a7ce7e45e5f3	g.chr12:27542200C>A	ENST00000266503.5	+	8	764	c.746C>A	c.(745-747)tCa>tAa	p.S249*	ARNTL2_ENST00000311001.5_Nonsense_Mutation_p.S235*|ARNTL2_ENST00000542388.1_Nonsense_Mutation_p.S164*|ARNTL2_ENST00000261178.5_Nonsense_Mutation_p.S201*|ARNTL2_ENST00000544915.1_Nonsense_Mutation_p.S215*|RP11-165P7.1_ENST00000500498.2_RNA|ARNTL2_ENST00000395901.2_Nonsense_Mutation_p.S212*|ARNTL2_ENST00000546179.1_Nonsense_Mutation_p.S212*			Q8WYA1	BMAL2_HUMAN	aryl hydrocarbon receptor nuclear translocator-like 2	249	Interaction with PER2. {ECO:0000250|UniProtKB:Q2VPD4}.|PAS 1. {ECO:0000255|PROSITE- ProRule:PRU00140}.				circadian rhythm (GO:0007623)|entrainment of circadian clock (GO:0009649)|positive regulation of circadian rhythm (GO:0042753)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	E-box binding (GO:0070888)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity (GO:0000982)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			breast(1)|endometrium(2)|large_intestine(5)|lung(9)|ovary(1)|skin(2)|urinary_tract(1)	21	Colorectal(261;0.0847)|Lung SC(9;0.184)					TTTGATATTTCACCAAGAGAA	0.333																																						ENST00000544915.1																			0				breast(1)|endometrium(2)|large_intestine(5)|lung(9)|ovary(1)|skin(2)|urinary_tract(1)	21						c.(643-645)tCa>tAa		aryl hydrocarbon receptor nuclear translocator-like 2							78	77	77					12																	27542200		2202	4296	6498	SO:0001587	stop_gained	56938				circadian rhythm|entrainment of circadian clock|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr12:27542200C>A	AF246961	CCDS8712.1, CCDS58219.1, CCDS58220.1, CCDS58221.1, CCDS58222.1	12p12.2-p11.2	2013-05-21			ENSG00000029153	ENSG00000029153		"Basic helix-loop-helix proteins"	18984	protein-coding gene	gene with protein product		614517				10864977, 10964693	Standard	NM_020183		Approved	BMAL2, MOP9, CLIF, PASD9, bHLHe6	uc001rht.2	Q8WYA1	OTTHUMG00000169257	ENST00000266503.5:c.746C>A	12.37:g.27542200C>A	ENSP00000266503:p.Ser249*					ARNTL2_ENST00000546179.1_Nonsense_Mutation_p.S212*|ARNTL2_ENST00000542388.1_Nonsense_Mutation_p.S164*|ARNTL2_ENST00000395901.2_Nonsense_Mutation_p.S212*|ARNTL2_ENST00000261178.5_Nonsense_Mutation_p.S201*|ARNTL2_ENST00000266503.5_Nonsense_Mutation_p.S249*|ARNTL2_ENST00000311001.5_Nonsense_Mutation_p.S235*	p.S215*	NM_020183.4	NP_064568.3	Q8WYA1	BMAL2_HUMAN			7	863	+	Colorectal(261;0.0847)|Lung SC(9;0.184)		249			PAS 1.		B7Z429|F5H402|Q8WYA2|Q8WYA3|Q8WYA4|Q96J63|Q9H2M4|Q9NS70|Q9NYQ4|Q9NYQ5	Nonsense_Mutation	SNP	ENST00000266503.5	37	c.644C>A	CCDS8712.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.85|19.85	3.903817|3.903817	0.72754|0.72754	.|.	.|.	ENSG00000029153|ENSG00000029153	ENST00000457040|ENST00000544915;ENST00000395901;ENST00000546179;ENST00000311001;ENST00000261178;ENST00000266503;ENST00000542388	.|.	.|.	.|.	3.99|3.99	3.99|3.99	0.46301|0.46301	.|.	.|0.475542	.|0.22608	.|N	.|0.057863	T|.	0.26268|.	0.0641|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.24693|.	-1.0153|.	3|.	.|0.02654	.|T	.|1	.|.	11.3188|11.3188	0.49407|0.49407	0.0:0.9108:0.0:0.0892|0.0:0.9108:0.0:0.0892	.|.	.|.	.|.	.|.	N|X	201|215;212;212;235;201;249;164	.|.	.|ENSP00000261178:S201X	H|S	+|+	1|2	0|0	ARNTL2|ARNTL2	27433467|27433467	0.002000|0.002000	0.14202|0.14202	0.997000|0.997000	0.53966|0.53966	0.950000|0.950000	0.60333|0.60333	0.477000|0.477000	0.22196|0.22196	2.232000|2.232000	0.73038|0.73038	0.655000|0.655000	0.94253|0.94253	CAC|TCA		0.333	ARNTL2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000403162.1	NM_020183		10	27	1	0	0.000442599	1	0.000462718	10	27					A	27542200	C	A	27542200	4	1	257	1	0	0	0	0	0	1	0	0	968	838	29	5	776	5	ARNTL2	12	27542200	Nonsense_Mutation	SNP	C	TCGA-HC-A9TH-01A-11D-A41K-08	13772799	27542200	106309695	43	12070											
ALX1	8092	broad.mit.edu	37	chr12	85674179	85674179	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ttacagcaaagcgtctgcagGcaaatgcgtgcaggccttcg	10	8	12	11	3	1	0	0	0	1	0	2	0	1	0	1	2	6	4	1	2	3	2			TCGA-HC-A9TH-01A-11D-A41K-08	TCGA-HC-A9TH-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3512f7-1306-483f-a744-ffefce67c8d2	8fae14ec-5bd1-4057-a5f4-a7ce7e45e5f3	g.chr12:85674179G>A	ENST00000316824.3	+	1	295	c.140G>A	c.(139-141)gGc>gAc	p.G47D		NM_006982.2	NP_008913.2	Q15699	ALX1_HUMAN	ALX homeobox 1	47					anterior/posterior pattern specification (GO:0009952)|brain development (GO:0007420)|cartilage condensation (GO:0001502)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal system morphogenesis (GO:0048704)|mesenchymal cell development (GO:0014031)|multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|palate development (GO:0060021)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|ovary(1)	26				GBM - Glioblastoma multiforme(134;0.134)		GCGTCTGCAGGCAAATGCGTG	0.597																																						ENST00000316824.3																			0				breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|ovary(1)	26						c.(139-141)gGc>gAc		ALX homeobox 1							54	54	54					12																	85674179		2203	4300	6503	SO:0001583	missense	8092				brain development|cartilage condensation|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter		sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr12:85674179G>A	U31986	CCDS9028.1	12q21.31	2011-06-20	2007-07-26	2007-07-26		ENSG00000180318		"Homeoboxes / PRD class"	1494	protein-coding gene	gene with protein product		601527	"cartilage paired-class homeoprotein 1"	CART1		8756334, 7592751	Standard	NM_006982		Approved		uc001tae.4	Q15699	OTTHUMG00000169820	ENST00000316824.3:c.140G>A	12.37:g.85674179G>A	ENSP00000315417:p.Gly47Asp						p.G47D	NM_006982.2	NP_008913.2	Q15699	ALX1_HUMAN		GBM - Glioblastoma multiforme(134;0.134)	1	295	+			47					Q546C8|Q96FH4	Missense_Mutation	SNP	ENST00000316824.3	37	c.140G>A	CCDS9028.1	.	.	.	.	.	.	.	.	.	.	G	13.23	2.173669	0.38413	.	.	ENSG00000180318	ENST00000316824	D	0.92595	-3.07	5.69	4.78	0.61160	.	0.323359	0.39020	N	0.001499	D	0.84750	0.5541	N	0.08118	0	0.36965	D	0.893547	B	0.18610	0.029	B	0.21708	0.036	T	0.82311	-0.0520	10	0.52906	T	0.07	.	16.4988	0.84252	0.0:0.1311:0.8689:0.0	.	47	Q15699	ALX1_HUMAN	D	47	ENSP00000315417:G47D	ENSP00000315417:G47D	G	+	2	0	ALX1	84198310	1.000000	0.71417	0.966000	0.40874	0.534000	0.34807	4.746000	0.62133	1.357000	0.45904	0.650000	0.86243	GGC		0.597	ALX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406072.1	NM_006982		3	46	0	0	0	1	0	3	46					A	85674179	G	A	85674179	3	1	257	1	0	0	0	0	1	0	0	0	556	1203	42	3	142	3	ALX1	12	85674179	Missense_Mutation	SNP	G	TCGA-HC-A9TH-01A-11D-A41K-08	58131979	85674179	48177716	44	12071											
NAA25	80018	broad.mit.edu	37	chr12	112518881	112518881	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacttgcataattaagctcaTcacagaccaaaagtagtagg	16	9	7	9	0	2	1	2	0	0	1	2	1	2	1	1	1	2	4	1	1	6	5			TCGA-HC-A9TH-01A-11D-A41K-08	TCGA-HC-A9TH-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3512f7-1306-483f-a744-ffefce67c8d2	8fae14ec-5bd1-4057-a5f4-a7ce7e45e5f3	g.chr12:112518881T>A	ENST00000261745.4	-	5	708	c.460A>T	c.(460-462)Atg>Ttg	p.M154L		NM_024953.3	NP_079229.2	Q14CX7	NAA25_HUMAN	N(alpha)-acetyltransferase 25, NatB auxiliary subunit	154						cytoplasm (GO:0005737)				autonomic_ganglia(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(1)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	46						ATTAAGCTCATCACAGACCAA	0.348																																						ENST00000261745.4																			0				autonomic_ganglia(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(1)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	46						c.(460-462)Atg>Ttg		N(alpha)-acetyltransferase 25, NatB auxiliary subunit							166	176	173					12																	112518881		2203	4300	6503	SO:0001583	missense	80018					cytoplasm	protein binding	g.chr12:112518881T>A	AB054990	CCDS9159.1	12q24.13	2013-10-11	2010-01-14	2010-01-14		ENSG00000111300		"N(alpha)-acetyltransferase subunits"	25783	protein-coding gene	gene with protein product		612755	"chromosome 12 open reading frame 30"	C12orf30		19660095	Standard	NM_024953		Approved	FLJ13089	uc001ttm.3	Q14CX7	OTTHUMG00000169638	ENST00000261745.4:c.460A>T	12.37:g.112518881T>A	ENSP00000261745:p.Met154Leu						p.M154L	NM_024953.3	NP_079229.2	Q14CX7	NAA25_HUMAN			5	708	-			154					A0JLU7|Q6MZH1|Q7Z4N6|Q9H911	Missense_Mutation	SNP	ENST00000261745.4	37	c.460A>T	CCDS9159.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	18.25|18.25	3.583428|3.583428	0.65992|0.65992	.|.	.|.	ENSG00000111300|ENSG00000111300	ENST00000547133|ENST00000261745	.|T	.|0.25250	.|1.81	5.6|5.6	5.6|5.6	0.85130|0.85130	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.42381|0.42381	0.1200|0.1200	L|L	0.52011|0.52011	1.625|1.625	0.80722|0.80722	D|D	1|1	.|D;D	.|0.53462	.|0.96;0.96	.|D;D	.|0.64321	.|0.924;0.924	T|T	0.09862|0.09862	-1.0655|-1.0655	5|10	.|0.22706	.|T	.|0.39	-15.4954|-15.4954	15.7929|15.7929	0.78380|0.78380	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|154;154	.|A8K8X0;Q14CX7	.|.;NAA25_HUMAN	V|L	115|154	.|ENSP00000261745:M154L	.|ENSP00000261745:M154L	D|M	-|-	2|1	0|0	NAA25|NAA25	111003264|111003264	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	7.324000|7.324000	0.79115|0.79115	2.123000|2.123000	0.65237|0.65237	0.533000|0.533000	0.62120|0.62120	GAT|ATG		0.348	NAA25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405205.1	NM_024953		49	147	0	0	0	1	0	49	147					A	112518881	T	A	112518881	3	1	257	1	0	0	0	0	1	0	0	0	10121	1435	50	5	2538	5	NAA25	12	112518881	Missense_Mutation	SNP	T	TCGA-HC-A9TH-01A-11D-A41K-08	26844702	112518881	21333014	45	12072											
RBM19	9904	broad.mit.edu	37	chr12	114358497	114358498	+	Splice_Site	INS	-	-	GA																															ccatggaaaggagcactcctINSgagagagagaggtggaaatc																										TCGA-HC-A9TH-01A-11D-A41K-08	TCGA-HC-A9TH-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3512f7-1306-483f-a744-ffefce67c8d2	8fae14ec-5bd1-4057-a5f4-a7ce7e45e5f3	g.chr12:114358497_114358498insGA	ENST00000545145.2	-	19	2384		c.e19-2		RBM19_ENST00000392561.3_Splice_Site|RBM19_ENST00000261741.5_Splice_Site	NM_001146699.1	NP_001140171.1	Q9Y4C8	RBM19_HUMAN	RNA binding motif protein 19						multicellular organismal development (GO:0007275)|positive regulation of embryonic development (GO:0040019)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(4)	55	Medulloblastoma(191;0.163)|all_neural(191;0.178)					GGAGCACTCCTGAGAGAGAGAG	0.545																																						ENST00000545145.2																			0				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(4)	55						c.e19-2		RNA binding motif protein 19																																				SO:0001630	splice_region_variant	9904				multicellular organismal development|positive regulation of embryonic development	chromosome|cytoplasm|nucleolus|nucleoplasm	nucleotide binding|RNA binding	g.chr12:114358497_114358498insGA	AL117547	CCDS9172.1	12q24.21	2013-02-12				ENSG00000122965		"RNA binding motif (RRM) containing"	29098	protein-coding gene	gene with protein product						9734811, 11230166	Standard	NM_016196		Approved	DKFZp586F1023, KIAA0682	uc009zwi.2	Q9Y4C8	OTTHUMG00000169646	ENST00000545145.2:c.2306-2->TC	12.37:g.114358506_114358507dupGA						RBM19_ENST00000392561.3_Splice_Site|RBM19_ENST00000261741.5_Splice_Site		NM_001146699.1	NP_001140171.1	Q9Y4C8	RBM19_HUMAN			19	2384	-	Medulloblastoma(191;0.163)|all_neural(191;0.178)							A8K5X9|Q9BPY6|Q9UFN5	Splice_Site	INS	ENST00000545145.2	37		CCDS9172.1																																																																																				0.545	RBM19-003	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405251.1	NM_016196	Intron	17	196						17	196	---	---	---	---	GA	114358498	-	GA	114358497	8	5	257	1	0	1	1	0	0	0	1	0	13121	1594	55	0	602	0	RBM19	12	114358497	Splice_Site	INS	-	TCGA-HC-A9TH-01A-11D-A41K-08	1839616	114358497	19493398	46	12073											
KDM2B	84678	broad.mit.edu	37	chr12	121882032	121882032	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tctgctccttgagcagggagCcgggcaggttggaggcgtac	6	8	17	10	2	1	1	0	1	1	0	2	3	2	3	2	5	4	5	2	5	1	3			TCGA-HC-A9TH-01A-11D-A41K-08	TCGA-HC-A9TH-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3512f7-1306-483f-a744-ffefce67c8d2	8fae14ec-5bd1-4057-a5f4-a7ce7e45e5f3	g.chr12:121882032C>T	ENST00000377071.4	-	16	2306	c.2234G>A	c.(2233-2235)gGc>gAc	p.G745D	KDM2B_ENST00000536437.1_Intron|KDM2B_ENST00000542973.1_Missense_Mutation_p.G113D|KDM2B_ENST00000377069.4_Missense_Mutation_p.G714D	NM_032590.4	NP_115979.3	Q8NHM5	KDM2B_HUMAN	lysine (K)-specific demethylase 2B	745					embryonic camera-type eye morphogenesis (GO:0048596)|forebrain development (GO:0030900)|fourth ventricle development (GO:0021592)|hindbrain development (GO:0030902)|histone demethylation (GO:0016577)|histone H2A monoubiquitination (GO:0035518)|initiation of neural tube closure (GO:0021993)|lateral ventricle development (GO:0021670)|midbrain development (GO:0030901)|midbrain-hindbrain boundary morphogenesis (GO:0021555)|negative regulation of neural precursor cell proliferation (GO:2000178)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|spermatogenesis (GO:0007283)|third ventricle development (GO:0021678)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone demethylase activity (GO:0032452)|histone demethylase activity (H3-K36 specific) (GO:0051864)|rRNA binding (GO:0019843)|zinc ion binding (GO:0008270)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	19						GAGCAGGGAGCCGGGCAGGTT	0.577											OREG0022201	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000377069.4																			0				breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	19						c.(2140-2142)gGc>gAc		lysine (K)-specific demethylase 2B							55	56	56					12																	121882032		2004	4165	6169	SO:0001583	missense	84678				embryonic camera-type eye morphogenesis|fourth ventricle development|histone H2A monoubiquitination|initiation of neural tube closure|lateral ventricle development|midbrain development|midbrain-hindbrain boundary morphogenesis|negative regulation of neural precursor cell proliferation|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|spermatogenesis|third ventricle development|transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|rRNA binding|zinc ion binding	g.chr12:121882032C>T	AJ459424	CCDS41849.1, CCDS41850.1	12q24.31	2014-02-18	2009-04-06	2009-04-06	ENSG00000089094	ENSG00000089094		"F-boxes / Leucine-rich repeats", "Chromatin-modifying enzymes / K-demethylases"	13610	protein-coding gene	gene with protein product	"jumonji C domain-containing histone demethylase 1B"	609078	"F-box and leucine-rich repeat protein 10"	FBXL10		10799292	Standard	NM_032590		Approved	PCCX2, CXXC2, Fbl10, JHDM1B	uc001uat.3	Q8NHM5	OTTHUMG00000169071	ENST00000377071.4:c.2234G>A	12.37:g.121882032C>T	ENSP00000366271:p.Gly745Asp		OREG0022201	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1514	KDM2B_ENST00000536437.1_Intron|KDM2B_ENST00000377071.4_Missense_Mutation_p.G745D|KDM2B_ENST00000542973.1_Missense_Mutation_p.G113D	p.G714D	NM_001005366.1	NP_001005366.1	Q8NHM5	KDM2B_HUMAN			16	2547	-			745					A8MRS1|Q8NCI2|Q96HC7|Q96SL0|Q96T03|Q9NS96|Q9UF75	Missense_Mutation	SNP	ENST00000377071.4	37	c.2141G>A	CCDS41850.1	.	.	.	.	.	.	.	.	.	.	C	36	5.635875	0.96682	.	.	ENSG00000089094	ENST00000397480;ENST00000542973;ENST00000377069;ENST00000377071;ENST00000540043;ENST00000261824	T;T;T	0.25579	2.08;2.46;1.79	5.95	5.95	0.96441	.	0.000000	0.52532	D	0.000061	T	0.45696	0.1355	L	0.55481	1.735	0.80722	D	1	D;D;P;D	0.89917	1.0;1.0;0.779;1.0	D;D;B;D	0.91635	0.998;0.999;0.197;0.999	T	0.12243	-1.0555	10	0.07644	T	0.81	-26.6101	20.3854	0.98941	0.0:1.0:0.0:0.0	.	185;745;714;188	B7ZB05;Q8NHM5;A8MRS1;B4DSN4	.;KDM2B_HUMAN;.;.	D	745;113;714;745;188;748	ENSP00000437821:G113D;ENSP00000366269:G714D;ENSP00000366271:G745D	ENSP00000261824:G748D	G	-	2	0	KDM2B	120366415	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.818000	0.86416	2.825000	0.97269	0.655000	0.94253	GGC		0.577	KDM2B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000402132.2	NM_032590		3	39	0	0	0	1	0	3	39					T	121882032	C	T	121882032	3	4	257	1	0	0	0	0	1	0	0	0	8125	739	26	3	1860	3	KDM2B	12	121882032	Missense_Mutation	SNP	C	TCGA-HC-A9TH-01A-11D-A41K-08	7523535	121882032	11969863	47	12074											
TMEM132D	121256	broad.mit.edu	37	chr12	129559588	129559588	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	catcactgaactggacccagCaactgatggctgcttcctat	10	10	8	13	0	1	2	1	2	0	0	2	3	2	3	2	2	4	3	2	2	3	2			TCGA-HC-A9TH-01A-11D-A41K-08	TCGA-HC-A9TH-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3512f7-1306-483f-a744-ffefce67c8d2	8fae14ec-5bd1-4057-a5f4-a7ce7e45e5f3	g.chr12:129559588C>A	ENST00000422113.2	-	9	2458	c.2132G>T	c.(2131-2133)tGc>tTc	p.C711F	TMEM132D_ENST00000389441.4_Missense_Mutation_p.C249F	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	711					negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		CTGGACCCAGCAACTGATGGC	0.463																																						ENST00000422113.2																			0				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152						c.(2131-2133)tGc>tTc		transmembrane protein 132D							43	40	41					12																	129559588		2203	4299	6502	SO:0001583	missense	121256					integral to membrane		g.chr12:129559588C>A	AB061814	CCDS9266.1	12q24.32-q24.33	2014-06-13			ENSG00000151952	ENSG00000151952			29411	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 153"	611257				11853319, 12966072	Standard	NM_133448		Approved	KIAA1944, MOLT, PPP1R153	uc009zyl.1	Q14C87	OTTHUMG00000168400	ENST00000422113.2:c.2132G>T	12.37:g.129559588C>A	ENSP00000408581:p.Cys711Phe					TMEM132D_ENST00000389441.4_Missense_Mutation_p.C249F	p.C711F	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)	9	2458	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)	711					Q14C96|Q76M59|Q8N1W9|Q8N3Q5|Q8TF57	Missense_Mutation	SNP	ENST00000422113.2	37	c.2132G>T	CCDS9266.1	.	.	.	.	.	.	.	.	.	.	C	12.33	1.904423	0.33628	.	.	ENSG00000151952	ENST00000389441;ENST00000422113	T;T	0.13089	2.62;2.62	4.43	4.43	0.53597	.	0.138173	0.51477	D	0.000087	T	0.34483	0.0899	M	0.65498	2.005	0.46356	D	0.999007	D;D	0.71674	0.998;0.991	D;D	0.65443	0.935;0.932	T	0.07908	-1.0748	9	.	.	.	-36.4454	17.4049	0.87470	0.0:1.0:0.0:0.0	.	711;249	Q14C87;Q14C87-2	T132D_HUMAN;.	F	249;711	ENSP00000374092:C249F;ENSP00000408581:C711F	.	C	-	2	0	TMEM132D	128125541	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	4.951000	0.63610	2.161000	0.67846	0.563000	0.77884	TGC		0.463	TMEM132D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399592.1	NM_133448		9	25	1	0	9.70103e-10	1	1.11562e-09	9	25					A	129559588	C	A	129559588	3	1	257	1	0	0	0	0	1	0	0	0	16044	710	25	5	1171	5	TMEM132D	12	129559588	Missense_Mutation	SNP	C	TCGA-HC-A9TH-01A-11D-A41K-08	7677556	129559588	4292307	48	12075											
EP400	57634	broad.mit.edu	37	chr12	132530428	132530428	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gctacgagaatgtcatcattCcacgagaggaggggaaggta	13	7	14	7	2	2	2	2	0	0	2	3	6	3	4	1	4	1	2	1	4	4	3	rs547123451		TCGA-HC-A9TH-01A-11D-A41K-08	TCGA-HC-A9TH-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3512f7-1306-483f-a744-ffefce67c8d2	8fae14ec-5bd1-4057-a5f4-a7ce7e45e5f3	g.chr12:132530428C>A	ENST00000333577.4	+	40	7400	c.7291C>A	c.(7291-7293)Cca>Aca	p.P2431T	EP400_ENST00000330386.6_Missense_Mutation_p.P2314T|EP400_ENST00000389561.2_Missense_Mutation_p.P2395T|EP400_ENST00000332482.4_Missense_Mutation_p.P2358T|EP400_ENST00000389562.2_Missense_Mutation_p.P2394T			Q96L91	EP400_HUMAN	E1A binding protein p400	2431					chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		TGTCATCATTCCACGAGAGGA	0.542																																						ENST00000333577.4																			0				NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161						c.(7291-7293)Cca>Aca		E1A binding protein p400							127	101	110					12																	132530428		2203	4300	6503	SO:0001583	missense	57634				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	g.chr12:132530428C>A	U80743	CCDS31929.1, CCDS31929.2	12q24.33	2008-02-01	2002-02-05	2002-02-08		ENSG00000183495			11958	protein-coding gene	gene with protein product		606265	"trinucleotide repeat containing 12"	TNRC12		9225980, 11509179	Standard	NM_015409		Approved	CAGH32, KIAA1498, P400, KIAA1818, DKFZP434I225	uc001ujn.3	Q96L91		ENST00000333577.4:c.7291C>A	12.37:g.132530428C>A	ENSP00000333602:p.Pro2431Thr					EP400_ENST00000330386.6_Missense_Mutation_p.P2314T|EP400_ENST00000332482.4_Missense_Mutation_p.P2358T|EP400_ENST00000389561.2_Missense_Mutation_p.P2395T|EP400_ENST00000389562.2_Missense_Mutation_p.P2394T	p.P2431T			Q96L91	EP400_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)	40	7400	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)	2431					O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	Missense_Mutation	SNP	ENST00000333577.4	37	c.7291C>A		.	.	.	.	.	.	.	.	.	.	C	11.78	1.741000	0.30865	.	.	ENSG00000183495	ENST00000333577;ENST00000389561;ENST00000389562;ENST00000332482;ENST00000330386;ENST00000541296	T;T;T;T;T	0.48836	0.8;0.8;0.8;0.8;0.8	5.21	5.21	0.72293	.	0.051889	0.85682	D	0.000000	T	0.74152	0.3679	M	0.87180	2.865	0.51767	D	0.999938	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	T	0.78866	-0.2035	10	0.62326	D	0.03	.	18.7731	0.91900	0.0:1.0:0.0:0.0	.	2395;2314;2394	Q96L91-2;Q96L91-4;Q96L91-5	.;.;.	T	2431;2395;2394;2358;2314;2395	ENSP00000333602:P2431T;ENSP00000374212:P2395T;ENSP00000374213:P2394T;ENSP00000331737:P2358T;ENSP00000330620:P2314T	ENSP00000330620:P2314T	P	+	1	0	EP400	131096381	1.000000	0.71417	0.889000	0.34880	0.276000	0.26787	7.487000	0.81328	2.439000	0.82584	0.655000	0.94253	CCA		0.542	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015409		4	15	1	0	2.56e-06	1	2.89574e-06	4	15					A	132530428	C	A	132530428	3	1	257	1	0	0	0	0	1	0	0	0	5149	855	30	5	7330	5	EP400	12	132530428	Missense_Mutation	SNP	C	TCGA-HC-A9TH-01A-11D-A41K-08	2970840	132530428	1321467	49	12076											
HECTD1	25831	broad.mit.edu	37	chr14	31576284	31576284	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	taaaaaaaggtttagaaataGgtaagtccacaagtctattg	18	11	8	4	0	1	1	0	0	1	1	2	1	2	1	1	2	0	2	1	2	10	7			TCGA-HC-A9TH-01A-11D-A41K-08	TCGA-HC-A9TH-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3512f7-1306-483f-a744-ffefce67c8d2	8fae14ec-5bd1-4057-a5f4-a7ce7e45e5f3	g.chr14:31576284G>C	ENST00000399332.1	-	38	7282	c.6794C>G	c.(6793-6795)cCt>cGt	p.P2265R	HECTD1_ENST00000553700.1_Missense_Mutation_p.P2265R	NM_015382.2	NP_056197.2	Q9ULT8	HECD1_HUMAN	HECT domain containing E3 ubiquitin protein ligase 1	2265	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				neural tube closure (GO:0001843)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|metal ion binding (GO:0046872)|ubiquitin-protein transferase activity (GO:0004842)			breast(10)|endometrium(7)|kidney(5)|large_intestine(12)|lung(23)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	70	Hepatocellular(127;0.0877)|Breast(36;0.176)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)		TTTAGAAATAGGTAAGTCCAC	0.358																																						ENST00000399332.1																			0				breast(10)|endometrium(7)|kidney(5)|large_intestine(12)|lung(23)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	70						c.(6793-6795)cCt>cGt		HECT domain containing E3 ubiquitin protein ligase 1							111	106	108					14																	31576284		1865	4096	5961	SO:0001583	missense	25831				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	metal ion binding|protein binding|ubiquitin-protein ligase activity	g.chr14:31576284G>C	AB032957	CCDS41939.1	14q12	2013-01-10	2012-02-23		ENSG00000092148	ENSG00000092148		"Ankyrin repeat domain containing"	20157	protein-coding gene	gene with protein product			"HECT domain containing 1"			10574461	Standard	XM_005267502		Approved	KIAA1131	uc001wrc.1	Q9ULT8	OTTHUMG00000170670	ENST00000399332.1:c.6794C>G	14.37:g.31576284G>C	ENSP00000382269:p.Pro2265Arg					HECTD1_ENST00000553700.1_Missense_Mutation_p.P2265R	p.P2265R	NM_015382.2	NP_056197.2	Q9ULT8	HECD1_HUMAN	LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)	38	7282	-	Hepatocellular(127;0.0877)|Breast(36;0.176)		2265			HECT.		D3DS86|Q6P445|Q86VJ1|Q96F34|Q9UFZ7	Missense_Mutation	SNP	ENST00000399332.1	37	c.6794C>G	CCDS41939.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	21.1|21.1	4.090660|4.090660	0.76756|0.76756	.|.	.|.	ENSG00000092148|ENSG00000092148	ENST00000554882|ENST00000553700;ENST00000261312;ENST00000399332	.|T;T	.|0.58652	.|0.32;0.32	6.06|6.06	6.06|6.06	0.98353|0.98353	.|HECT (4);	.|0.162796	.|0.41938	.|U	.|0.000798	T|T	0.76652|0.76652	0.4017|0.4017	M|M	0.70903|0.70903	2.155|2.155	0.80722|0.80722	D|D	1|1	.|D	.|0.76494	.|0.999	.|D	.|0.85130	.|0.997	T|T	0.76225|0.76225	-0.3037|-0.3037	5|10	.|0.59425	.|D	.|0.04	-10.5233|-10.5233	18.8088|18.8088	0.92050|0.92050	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|2265	.|Q9ULT8	.|HECD1_HUMAN	V|R	631|2265;2267;2265	.|ENSP00000450697:P2265R;ENSP00000382269:P2265R	.|ENSP00000261312:P2267R	L|P	-|-	1|2	2|0	HECTD1|HECTD1	30646035|30646035	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	9.471000|9.471000	0.97696|0.97696	2.871000|2.871000	0.98454|0.98454	0.655000|0.655000	0.94253|0.94253	CTA|CCT		0.358	HECTD1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409942.1			26	74	0	0	0	1	0	26	74					C	31576284	G	C	31576284	3	2	257	1	0	0	0	0	1	0	0	0	7039	1000	35	5	1062	5	HECTD1	14	31576284	Missense_Mutation	SNP	G	TCGA-HC-A9TH-01A-11D-A41K-08		31576284	75773256	50	12077											
DUOX1	53905	broad.mit.edu	37	chr15	45457064	45457064	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agctcatcaacaggcaggacCggactcacttctcccaccat	11	7	7	16	1	4	0	3	0	1	0	5	2	4	2	3	3	2	2	3	3	1	1	rs554036237		TCGA-HC-A9TH-01A-11D-A41K-08	TCGA-HC-A9TH-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3512f7-1306-483f-a744-ffefce67c8d2	8fae14ec-5bd1-4057-a5f4-a7ce7e45e5f3	g.chr15:45457064C>T	ENST00000321429.4	+	35	5028	c.4621C>T	c.(4621-4623)Cgg>Tgg	p.R1541W	CTD-2651B20.1_ENST00000558039.1_lincRNA|DUOX1_ENST00000389037.3_Missense_Mutation_p.R1541W|DUOX1_ENST00000561166.1_Missense_Mutation_p.R1187W	NM_017434.3	NP_059130.2	Q9NRD9	DUOX1_HUMAN	dual oxidase 1	1541					cuticle development (GO:0042335)|cytokine-mediated signaling pathway (GO:0019221)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide biosynthetic process (GO:0050665)|hydrogen peroxide catabolic process (GO:0042744)|oxidation-reduction process (GO:0055114)|response to cAMP (GO:0051591)|superoxide anion generation (GO:0042554)|thyroid hormone generation (GO:0006590)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|heme binding (GO:0020037)|NAD(P)H oxidase activity (GO:0016174)|NADP binding (GO:0050661)|peroxidase activity (GO:0004601)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|lung(16)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)	57		all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717)		CAGGCAGGACCGGACTCACTT	0.587													C|||	1	0.000199681	0	0	5008	,	,		17772	0.001		0	False		,,,				2504	0					ENST00000321429.4																			0				breast(2)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|lung(16)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)	57						c.(4621-4623)Cgg>Tgg		dual oxidase 1							161	158	159					15																	45457064		2198	4298	6496	SO:0001583	missense	53905				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|superoxide anion generation	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|NADP binding|peroxidase activity	g.chr15:45457064C>T	AF213465	CCDS32221.1	15q21	2013-01-10				ENSG00000137857		"EF-hand domain containing"	3062	protein-coding gene	gene with protein product	"NADPH thyroid oxidase 1", "flavoprotein NADPH oxidase", "nicotinamide adenine dinucleotide phosphate oxidase"	606758				10806195	Standard	XM_005254463		Approved	NOXEF1, THOX1, LNOX1	uc001zut.1	Q9NRD9		ENST00000321429.4:c.4621C>T	15.37:g.45457064C>T	ENSP00000317997:p.Arg1541Trp					DUOX1_ENST00000561166.1_Missense_Mutation_p.R1187W|DUOX1_ENST00000389037.3_Missense_Mutation_p.R1541W|CTD-2651B20.1_ENST00000558039.1_lincRNA	p.R1541W	NM_017434.3	NP_059130.2	Q9NRD9	DUOX1_HUMAN		all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717)	35	5028	+		all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)	1541					A6NH28|Q14C94|Q6ZMB3|Q6ZR09|Q9NZC1	Missense_Mutation	SNP	ENST00000321429.4	37	c.4621C>T	CCDS32221.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.045090	0.75846	.	.	ENSG00000137857	ENST00000431588;ENST00000321429;ENST00000389037	D;D	0.86366	-2.11;-2.11	4.64	0.183	0.15082	.	0.167615	0.53938	D	0.000053	T	0.81936	0.4928	L	0.38175	1.15	0.37386	D	0.912267	D	0.69078	0.997	P	0.48677	0.586	T	0.80910	-0.1171	10	0.72032	D	0.01	-15.1645	8.1323	0.31035	0.2938:0.437:0.2692:0.0	.	1541	Q9NRD9	DUOX1_HUMAN	W	1541	ENSP00000317997:R1541W;ENSP00000373689:R1541W	ENSP00000317997:R1541W	R	+	1	2	DUOX1	43244356	0.989000	0.36119	0.998000	0.56505	0.996000	0.88848	1.531000	0.36018	0.162000	0.19483	0.561000	0.74099	CGG		0.587	DUOX1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416251.1	NM_017434		36	60	0	0	0	1	0	36	60					T	45457064	C	T	45457064	3	4	257	1	0	0	0	0	1	0	0	0	4800	643	23	2	4751	2	DUOX1	15	45457064	Missense_Mutation	SNP	C	TCGA-HC-A9TH-01A-11D-A41K-08		45457064	57074328	51	12078											
CTRL	1506	broad.mit.edu	37	chr16	67963908	67963908	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agtatacacagcaggtgcgcGcacattgcagtttttggtgc	9	11	12	9	2	0	0	0	0	0	0	0	0	0	0	0	2	5	5	0	2	2	5	rs200739617		TCGA-HC-A9TH-01A-11D-A41K-08	TCGA-HC-A9TH-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3512f7-1306-483f-a744-ffefce67c8d2	8fae14ec-5bd1-4057-a5f4-a7ce7e45e5f3	g.chr16:67963908G>A	ENST00000574481.1	-	7	1285	c.724C>T	c.(724-726)Cgc>Tgc	p.R242C	CTRL_ENST00000576408.1_5'Flank	NM_001907.2	NP_001898.1	P40313	CTRL_HUMAN	chymotrypsin-like	242	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				digestion (GO:0007586)|proteolysis (GO:0006508)	extracellular space (GO:0005615)	serine-type endopeptidase activity (GO:0004252)			kidney(1)|large_intestine(2)|urinary_tract(1)	4		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.00412)|Epithelial(162;0.018)|all cancers(182;0.118)		GCAGGTGCGCGCACATTGCAG	0.552													G|||	1	0.000199681	8e-04	0	5008	,	,		20028	0		0	False		,,,				2504	0					ENST00000574481.1																			0				kidney(1)|large_intestine(2)|urinary_tract(1)	4						c.(724-726)Cgc>Tgc		chymotrypsin-like							139	135	137					16																	67963908		2198	4300	6498	SO:0001583	missense	1506				digestion|proteolysis	extracellular space	serine-type endopeptidase activity	g.chr16:67963908G>A		CCDS10852.1	16q22.1	2008-02-05			ENSG00000141086	ENSG00000141086			2524	protein-coding gene	gene with protein product		118888				8268911	Standard	NM_001907		Approved		uc002euw.3	P40313	OTTHUMG00000137552	ENST00000574481.1:c.724C>T	16.37:g.67963908G>A	ENSP00000458537:p.Arg242Cys						p.R242C	NM_001907.2	NP_001898.1	P40313	CTRL_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00412)|Epithelial(162;0.018)|all cancers(182;0.118)	7	1285	-		Ovarian(137;0.192)	242			Peptidase S1.			Missense_Mutation	SNP	ENST00000574481.1	37	c.724C>T	CCDS10852.1	3	0.0013736263736263737	1	0.0020325203252032522	0	0.0	0	0.0	2	0.002638522427440633	G	16.28	3.078706	0.55753	.	.	ENSG00000141086	ENST00000319955	.	.	.	5.74	-11.5	0.00074	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	1.903150	0.02449	N	0.085345	T	0.39091	0.1065	L	0.60067	1.865	0.09310	N	1	D	0.62365	0.991	P	0.58970	0.849	T	0.62426	-0.6857	9	0.54805	T	0.06	-11.3366	0.6454	0.00817	0.3453:0.1325:0.1914:0.3309	.	242	P40313	CTRL_HUMAN	C	242	.	ENSP00000322629:R242C	R	-	1	0	CTRL	66521409	0.000000	0.05858	0.000000	0.03702	0.523000	0.34469	-3.484000	0.00455	-2.232000	0.00717	0.491000	0.48974	CGC		0.552	CTRL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268886.3			23	60	0	0	0	1	0	23	60					A	67963908	G	A	67963908	3	1	257	1	0	0	0	0	1	0	0	0	4028	1087	38	1	74	1	CTRL	16	67963908	Missense_Mutation	SNP	G	TCGA-HC-A9TH-01A-11D-A41K-08		67963908	22390845	52	12079											
TP53	7157	broad.mit.edu	37	chr17	7578525	7578525	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gggcaggtcttggccagttgGcaaaacatcttgttgagggc	8	10	15	8	0	2	1	0	1	2	0	2	1	2	1	1	5	1	4	1	5	2	4			TCGA-HC-A9TH-01A-11D-A41K-08	TCGA-HC-A9TH-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3512f7-1306-483f-a744-ffefce67c8d2	8fae14ec-5bd1-4057-a5f4-a7ce7e45e5f3	g.chr17:7578525G>C	ENST00000269305.4	-	5	594	c.405C>G	c.(403-405)tgC>tgG	p.C135W	TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Missense_Mutation_p.C135W|TP53_ENST00000420246.2_Missense_Mutation_p.C135W|TP53_ENST00000445888.2_Missense_Mutation_p.C135W|TP53_ENST00000359597.4_Missense_Mutation_p.C135W|TP53_ENST00000413465.2_Missense_Mutation_p.C135W	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	135	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		C -> F (in sporadic cancers; somatic mutation).|C -> G (in sporadic cancers; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in sporadic cancers; somatic mutation).|C -> T (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in sporadic cancers; somatic mutation; decreased E6-mediated binding to E6-AP).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.C135W(24)|p.0?(8)|p.C135*(7)|p.C135C(5)|p.C135fs*9(3)|p.N131fs*27(2)|p.Q136fs*13(2)|p.F134_T140>S(1)|p.K132_A138delKMFCQLA(1)|p.S127_Q136del10(1)|p.C135T(1)|p.V73fs*9(1)|p.C135fs*15(1)|p.C135fs*14(1)|p.Y126fs*11(1)|p.C3fs*9(1)|p.C42fs*9(1)|p.C135_A138delCQLA(1)|p.C3W(1)|p.C42W(1)|p.C135_T140delCQLAKT(1)|p.Q136*(1)|p.C135_Q136insXXXXXX(1)|p.C135_Q136insX(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	TGGCCAGTTGGCAAAACATCT	0.567		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"Mis, N, F"	tumor protein p53			"L, E, M, O"		"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"	"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"		68	Substitution - Missense(27)|Deletion - Frameshift(9)|Substitution - Nonsense(8)|Whole gene deletion(8)|Substitution - coding silent(5)|Deletion - In frame(4)|Insertion - Frameshift(4)|Insertion - In frame(2)|Complex - deletion inframe(1)	p.C135W(24)|p.0?(8)|p.C135*(7)|p.C135C(5)|p.C135fs*9(3)|p.N131fs*27(2)|p.Q136fs*13(2)|p.F134_T140>S(1)|p.K132_A138delKMFCQLA(1)|p.S127_Q136del10(1)|p.C135T(1)|p.V73fs*9(1)|p.C135fs*15(1)|p.C135fs*14(1)|p.Y126fs*11(1)|p.C3fs*9(1)|p.C42fs*9(1)|p.C135_A138delCQLA(1)|p.C3W(1)|p.C42W(1)|p.C135_T140delCQLAKT(1)|p.Q136*(1)|p.C135_Q136insXXXXXX(1)|p.C135_Q136insX(1)	urinary_tract(11)|lung(8)|breast(7)|central_nervous_system(6)|oesophagus(6)|ovary(6)|haematopoietic_and_lymphoid_tissue(5)|bone(4)|upper_aerodigestive_tract(3)|large_intestine(3)|stomach(2)|skin(2)|prostate(2)|thyroid(1)|liver(1)|pancreas(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185						c.(403-405)tgC>tgG	Other conserved DNA damage response genes	tumor protein p53							51	51	51					17																	7578525		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578525G>C	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"Li-Fraumeni syndrome"	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.405C>G	17.37:g.7578525G>C	ENSP00000269305:p.Cys135Trp	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_ENST00000413465.2_Missense_Mutation_p.C135W|TP53_ENST00000359597.4_Missense_Mutation_p.C135W|TP53_ENST00000455263.2_Missense_Mutation_p.C135W|TP53_ENST00000445888.2_Missense_Mutation_p.C135W|TP53_ENST00000269305.4_Missense_Mutation_p.C135W	p.C135W	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	5	537	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	135		C -> F (in sporadic cancers; somatic mutation).|C -> G (in sporadic cancers; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in sporadic cancers; somatic mutation).|C -> T (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in sporadic cancers; somatic mutation; decreased E6-mediated binding to E6-AP).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.405C>G	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	17.23	3.337657	0.60963	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315;ENST00000508793	D;D;D;D;D;D;D;D;D	0.99801	-6.81;-6.81;-6.81;-6.81;-6.81;-6.81;-6.81;-6.81;-6.81	5.48	3.5	0.40072	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99691	0.9883	M	0.85945	2.785	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;0.999;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	0.999;1.0;0.99;1.0;1.0;1.0;1.0	D	0.98316	1.0526	10	0.72032	D	0.01	-26.815	10.0222	0.42051	0.1647:0.0:0.8353:0.0	.	96;135;135;42;135;135;135	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	W	135;135;135;135;135;135;124;42;3;42;3;135	ENSP00000410739:C135W;ENSP00000352610:C135W;ENSP00000269305:C135W;ENSP00000398846:C135W;ENSP00000391127:C135W;ENSP00000391478:C135W;ENSP00000425104:C3W;ENSP00000423862:C42W;ENSP00000424104:C135W	ENSP00000269305:C135W	C	-	3	2	TP53	7519250	1.000000	0.71417	1.000000	0.80357	0.786000	0.44442	0.645000	0.24782	0.798000	0.33994	0.655000	0.94253	TGC		0.567	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		7	9	0	0	0	1	0	7	9					C	7578525	G	C	7578525	3	2	257	1	0	0	0	0	1	0	0	0	16378	1195	42	5	893	5	TP53	17	7578525	Missense_Mutation	SNP	G	TCGA-HC-A9TH-01A-11D-A41K-08		7578525	73616685	53	12080											
PPP1R9B	84687	broad.mit.edu	37	chr17	48216860	48216860	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gacagtgcatcctcgttctcCgctagctcaaacacctcgat	9	10	7	15	3	2	0	1	0	1	0	6	2	3	0	3	0	3	4	3	0	2	2	rs146365088	byFrequency	TCGA-HC-A9TH-01A-11D-A41K-08	TCGA-HC-A9TH-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3512f7-1306-483f-a744-ffefce67c8d2	8fae14ec-5bd1-4057-a5f4-a7ce7e45e5f3	g.chr17:48216860C>T	ENST00000316878.6	-	8	1949	c.1947G>A	c.(1945-1947)gcG>gcA	p.A649A	PPP1R9B_ENST00000501501.2_5'UTR|AC002401.1_ENST00000451776.1_RNA	NM_032595.3	NP_115984.3	Q96SB3	NEB2_HUMAN	protein phosphatase 1, regulatory subunit 9B	649	Interacts with TGN38. {ECO:0000250}.				actin filament organization (GO:0007015)|calcium-mediated signaling (GO:0019722)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular response to morphine (GO:0071315)|dendrite development (GO:0016358)|filopodium assembly (GO:0046847)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell growth (GO:0030308)|regulation of cell growth by extracellular stimulus (GO:0001560)|regulation of cell proliferation (GO:0042127)|regulation of exit from mitosis (GO:0007096)|regulation of opioid receptor signaling pathway (GO:2000474)|regulation of protein phosphorylation (GO:0001932)|RNA splicing (GO:0008380)	cell junction (GO:0030054)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|filopodium (GO:0030175)|lamellipodium (GO:0030027)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|protein phosphatase type 1 complex (GO:0000164)|ruffle membrane (GO:0032587)|synapse (GO:0045202)	protein phosphatase 1 binding (GO:0008157)|protein phosphatase inhibitor activity (GO:0004864)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	8						CCTCGTTCTCCGCTAGCTCAA	0.617													C|||	13	0.00259585	0.0091	0	5008	,	,		22392	0.001		0	False		,,,				2504	0					ENST00000316878.6																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	8						c.(1945-1947)gcG>gcA		protein phosphatase 1, regulatory subunit 9B		C		12,4328		0,12,2158	153	166	162		1949	-4.8	0.8	17	dbSNP_134	162	0,8530		0,0,4265	yes	coding-synonymous	PPP1R9B	NM_032595.3		0,12,6423	TT,TC,CC		0.0,0.2765,0.0932		651/818	48216860	12,12858	2170	4265	6435	SO:0001819	synonymous_variant	84687				cell cycle arrest|cell differentiation|cell migration|filopodium assembly|negative regulation of cell growth|nervous system development|regulation of cell growth by extracellular stimulus|regulation of cell proliferation|regulation of exit from mitosis|RNA splicing	adherens junction|cytoskeleton|dendritic spine|filopodium|lamellipodium|nucleoplasm|protein phosphatase type 1 complex|ruffle membrane|synapse	actin binding|protein phosphatase 1 binding|protein phosphatase inhibitor activity	g.chr17:48216860C>T	AJ401189	CCDS74102.1	17q21.33	2013-01-31	2011-10-04	2001-07-02	ENSG00000108819	ENSG00000108819		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	9298	protein-coding gene	gene with protein product	"spinophilin", "Neurabin-2"	603325	"protein phosphatase 1, regulatory subunit 9B, spinophilin", "protein phosphatase 1, regulatory (inhibitor) subunit 9B"	PPP1R6, PPP1R9		9275233	Standard	NM_032595		Approved	Spn, SPINO	uc002iqh.4	Q96SB3	OTTHUMG00000162008	ENST00000316878.6:c.1947G>A	17.37:g.48216860C>T						PPP1R9B_ENST00000501501.2_5'UTR|AC002401.1_ENST00000451776.1_RNA	p.A649A	NM_032595.3	NP_115984.3	Q96SB3	NEB2_HUMAN			8	1949	-			649			Interacts with TGN38 (By similarity).		Q8TCR9	Silent	SNP	ENST00000316878.6	37	c.1947G>A																																																																																					0.617	PPP1R9B-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_032595		33	69	0	0	0	1	0	33	69					T	48216860	C	T	48216860	2	4	257	1	0	0	0	0	0	0	0	1	12379	639	23	2		2	PPP1R9B	17	48216860	Silent	SNP	C	TCGA-HC-A9TH-01A-11D-A41K-08	40638335	48216860	32978350	54	12081											
TLK2	11011	broad.mit.edu	37	chr17	60601629	60601629	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcgcgccaggaaccagcccTggcagaagtgttccaccagt	10	5	12	14	2	0	1	0	0	0	1	1	2	1	2	5	2	3	2	5	2	2	1			TCGA-HC-A9TH-01A-11D-A41K-08	TCGA-HC-A9TH-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3512f7-1306-483f-a744-ffefce67c8d2	8fae14ec-5bd1-4057-a5f4-a7ce7e45e5f3	g.chr17:60601629T>G	ENST00000326270.9	+	6	568	c.300T>G	c.(298-300)ccT>ccG	p.P100P	TLK2_ENST00000346027.5_Silent_p.P100P|TLK2_ENST00000542523.1_Intron|TLK2_ENST00000343388.7_Intron|TLK2_ENST00000582809.1_5'UTR	NM_001284333.1	NP_001271262.1	Q86UE8	TLK2_HUMAN	tousled-like kinase 2	100					cell cycle (GO:0007049)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|chromatin modification (GO:0016568)|chromosome segregation (GO:0007059)|intracellular signal transduction (GO:0035556)|negative regulation of autophagy (GO:0010507)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|peptidyl-serine phosphorylation (GO:0018105)|protein phosphorylation (GO:0006468)|regulation of chromatin assembly or disassembly (GO:0001672)	intermediate filament (GO:0005882)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(4)|large_intestine(6)|liver(2)|lung(10)|prostate(1)|stomach(1)|urinary_tract(1)	39						GAACCAGCCCTGGCAGAAGTG	0.473																																						ENST00000326270.9																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(4)|large_intestine(6)|liver(2)|lung(10)|prostate(1)|stomach(1)|urinary_tract(1)	39						c.(298-300)ccT>ccG		tousled-like kinase 2							42	45	44					17																	60601629		2203	4300	6503	SO:0001819	synonymous_variant	11011				cell cycle|chromatin modification|intracellular signal transduction|regulation of chromatin assembly or disassembly|response to DNA damage stimulus	nucleus	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr17:60601629T>G	AB004884	CCDS11633.1, CCDS45753.1, CCDS62283.1	17q23	2008-07-18							11842	protein-coding gene	gene with protein product		608439				9427565, 10523312	Standard	NM_006852		Approved	PKU-ALPHA, MGC44450	uc002izz.4	Q86UE8		ENST00000326270.9:c.300T>G	17.37:g.60601629T>G						TLK2_ENST00000346027.5_Silent_p.P100P|TLK2_ENST00000542523.1_Intron|TLK2_ENST00000582809.1_5'UTR|TLK2_ENST00000343388.7_Intron	p.P100P			Q86UE8	TLK2_HUMAN			6	568	+			100					D3DU07|Q9UKI7|Q9Y4F7	Silent	SNP	ENST00000326270.9	37	c.300T>G																																																																																					0.473	TLK2-004	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000445140.1	NM_006852		3	6	0	0	0	1	0	3	6					G	60601629	T	G	60601629	2	3	257	1	0	0	0	0	0	0	0	1	15941	1567	55	5		5	TLK2	17	60601629	Silent	SNP	T	TCGA-HC-A9TH-01A-11D-A41K-08	12384769	60601629	20593581	55	12082											
CANT1	124583	broad.mit.edu	37	chr17	76993313	76993313	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctgacagggtcaggtagcccTttttcaggtaactgaaccag	10	10	11	10	0	2	2	2	2	0	0	2	2	2	2	2	3	3	2	2	3	3	4			TCGA-HC-A9TH-01A-11D-A41K-08	TCGA-HC-A9TH-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3512f7-1306-483f-a744-ffefce67c8d2	8fae14ec-5bd1-4057-a5f4-a7ce7e45e5f3	g.chr17:76993313T>C	ENST00000302345.2	-	2	886	c.392A>G	c.(391-393)aAg>aGg	p.K131R	CANT1_ENST00000591732.1_5'Flank|CANT1_ENST00000591773.1_Missense_Mutation_p.K131R|CANT1_ENST00000392446.5_Missense_Mutation_p.K131R	NM_001159773.1|NM_138793.3	NP_001153245.1|NP_620148.1	Q8WVQ1	CANT1_HUMAN	calcium activated nucleotidase 1	131					positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|proteoglycan biosynthetic process (GO:0030166)|signal transduction (GO:0007165)	endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|signal transducer activity (GO:0004871)|uridine-diphosphatase activity (GO:0045134)		CANT1/ETV4(3)	cervix(1)|endometrium(1)|large_intestine(2)|lung(10)|prostate(1)|skin(1)	16			BRCA - Breast invasive adenocarcinoma(99;0.0362)|OV - Ovarian serous cystadenocarcinoma(97;0.139)			CAGGTAGCCCTTTTTCAGGTA	0.577			T	ETV4	prostate																																	ENST00000302345.2				Dom	yes		17	17q25	124583	T	calcium activated nucleotidase 1			E	ETV4		prostate	CANT1/ETV4(3)	0				cervix(1)|endometrium(1)|large_intestine(2)|lung(10)|prostate(1)|skin(1)	16						c.(391-393)aAg>aGg		calcium activated nucleotidase 1							184	181	182					17																	76993313		2203	4300	6503	SO:0001583	missense	124583				positive regulation of I-kappaB kinase/NF-kappaB cascade	endoplasmic reticulum membrane|Golgi cisterna membrane|integral to membrane	calcium ion binding|nucleoside-diphosphatase activity|signal transducer activity	g.chr17:76993313T>C	AJ312208	CCDS11760.1	17q25.3	2008-02-05	2004-10-12	2004-10-15		ENSG00000171302			19721	protein-coding gene	gene with protein product	"Soluble Ca-Activated Nucleotidase, isozyme 1"	613165				12167635	Standard	NM_138793		Approved	SHAPY, SCAN-1	uc002jwk.3	Q8WVQ1		ENST00000302345.2:c.392A>G	17.37:g.76993313T>C	ENSP00000307674:p.Lys131Arg					CANT1_ENST00000591773.1_Missense_Mutation_p.K131R|CANT1_ENST00000392446.5_Missense_Mutation_p.K131R	p.K131R	NM_001159773.1|NM_138793.3	NP_001153245.1|NP_620148.1	Q8WVQ1	CANT1_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0362)|OV - Ovarian serous cystadenocarcinoma(97;0.139)		2	886	-			131					B4DJ54|Q7Z2J7|Q8NG05|Q8NHP0|Q9BSD5	Missense_Mutation	SNP	ENST00000302345.2	37	c.392A>G	CCDS11760.1	.	.	.	.	.	.	.	.	.	.	T	10.97	1.501139	0.26861	.	.	ENSG00000171302	ENST00000302345;ENST00000392446;ENST00000537282;ENST00000339300	D;D	0.85773	-2.03;-2.03	5.27	4.19	0.49359	.	0.099573	0.64402	D	0.000002	T	0.71065	0.3296	N	0.20357	0.565	0.50632	D	0.999887	B	0.06786	0.001	B	0.10450	0.005	T	0.59440	-0.7454	10	0.13108	T	0.6	-30.8089	8.2417	0.31665	0.0:0.1541:0.0:0.8459	.	131	Q8WVQ1	CANT1_HUMAN	R	131;131;131;80	ENSP00000307674:K131R;ENSP00000376241:K131R	ENSP00000307674:K131R	K	-	2	0	CANT1	74504908	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	1.832000	0.39151	0.845000	0.35118	0.459000	0.35465	AAG		0.577	CANT1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437723.2	NM_138793		5	258	0	0	0	1	0	5	258					C	76993313	T	C	76993313	3	2	257	1	0	0	0	0	1	0	0	0	2617	1609	56	4	825	4	CANT1	17	76993313	Missense_Mutation	SNP	T	TCGA-HC-A9TH-01A-11D-A41K-08	16391684	76993313	4201897	56	12083											
LDLR	3949	broad.mit.edu	37	chr19	11240197	11240197	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctccctacagtgctcctcGtcttcctttgcctgggggtc	2	14	9	16	1	2	0	0	0	2	0	7	0	4	0	4	2	3	1	4	2	1	3	rs200243555		TCGA-HC-A9TH-01A-11D-A41K-08	TCGA-HC-A9TH-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3512f7-1306-483f-a744-ffefce67c8d2	8fae14ec-5bd1-4057-a5f4-a7ce7e45e5f3	g.chr19:11240197G>A	ENST00000558518.1	+	17	2585	c.2398G>A	c.(2398-2400)Gtc>Atc	p.V800I	LDLR_ENST00000545707.1_Missense_Mutation_p.V622I|LDLR_ENST00000560628.1_Intron|LDLR_ENST00000558013.1_Missense_Mutation_p.V800I|LDLR_ENST00000535915.1_Missense_Mutation_p.V759I|LDLR_ENST00000557933.1_Silent_p.S820S|LDLR_ENST00000455727.2_Missense_Mutation_p.V632I	NM_000527.4|NM_001195798.1	NP_000518.1|NP_001182727.1	P01130	LDLR_HUMAN	low density lipoprotein receptor	800			Missing (in FH; Danish patient). {ECO:0000269|PubMed:9143924}.		cholesterol homeostasis (GO:0042632)|cholesterol import (GO:0070508)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|endocytosis (GO:0006897)|intestinal cholesterol absorption (GO:0030299)|lipid metabolic process (GO:0006629)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|low-density lipoprotein particle clearance (GO:0034383)|phospholipid transport (GO:0015914)|phototransduction, visible light (GO:0007603)|positive regulation of triglyceride biosynthetic process (GO:0010867)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol homeostasis (GO:2000188)|regulation of phosphatidylcholine catabolic process (GO:0010899)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cell surface (GO:0009986)|clathrin-coated endocytic vesicle membrane (GO:0030669)|coated pit (GO:0005905)|early endosome (GO:0005769)|endosome membrane (GO:0010008)|external side of plasma membrane (GO:0009897)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|low-density lipoprotein particle (GO:0034362)|lysosome (GO:0005764)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|glycoprotein binding (GO:0001948)|low-density lipoprotein particle binding (GO:0030169)|low-density lipoprotein receptor activity (GO:0005041)|very-low-density lipoprotein particle receptor activity (GO:0030229)			breast(2)|endometrium(2)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Lung NSC(9;0.000245)|Renal(1328;0.0007)|Hepatocellular(1079;0.0524)		GBM - Glioblastoma multiforme(1328;1.36e-05)|STAD - Stomach adenocarcinoma(1328;0.000766)|Lung(535;0.197)	Porfimer(DB00707)	AGTGCTCCTCGTCTTCCTTTG	0.547																																					GBM(18;201 575 7820 21545)	ENST00000558518.1																			0				breast(2)|endometrium(2)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						c.(2398-2400)Gtc>Atc		low density lipoprotein receptor	Methyl aminolevulinate(DB00992)|Porfimer(DB00707)						123	104	110					19																	11240197		2203	4300	6503	SO:0001583	missense	3949				cholesterol homeostasis|cholesterol metabolic process|interspecies interaction between organisms|intestinal cholesterol absorption|low-density lipoprotein particle clearance|receptor-mediated endocytosis	clathrin-coated endocytic vesicle membrane|coated pit|early endosome|endosome membrane|external side of plasma membrane|integral to plasma membrane|low-density lipoprotein particle|lysosome	calcium ion binding|low-density lipoprotein receptor activity|protein binding|very-low-density lipoprotein particle receptor activity	g.chr19:11240197G>A	AY114155	CCDS12254.1, CCDS56083.1, CCDS56084.1, CCDS56085.1, CCDS58651.1	19p13.2	2014-09-17	2008-08-01		ENSG00000130164	ENSG00000130164		"Low density lipoprotein receptors"	6547	protein-coding gene	gene with protein product	"familial hypercholesterolemia"	606945					Standard	NM_000527		Approved	LDLCQ2	uc002mqk.4	P01130		ENST00000558518.1:c.2398G>A	19.37:g.11240197G>A	ENSP00000454071:p.Val800Ile					LDLR_ENST00000545707.1_Missense_Mutation_p.V622I|LDLR_ENST00000560628.1_Intron|LDLR_ENST00000558013.1_Missense_Mutation_p.V800I|LDLR_ENST00000557933.1_Silent_p.S820S|LDLR_ENST00000535915.1_Missense_Mutation_p.V759I|LDLR_ENST00000455727.2_Missense_Mutation_p.V632I	p.V800I	NM_000527.4|NM_001195798.1	NP_000518.1|NP_001182727.1	P01130	LDLR_HUMAN		GBM - Glioblastoma multiforme(1328;1.36e-05)|STAD - Stomach adenocarcinoma(1328;0.000766)|Lung(535;0.197)	17	2585	+		Lung NSC(9;0.000245)|Renal(1328;0.0007)|Hepatocellular(1079;0.0524)	800		Missing (in FH; Danish patient).			B4DII3|B4DJZ8|B4DR00|B4DTQ3|C0JYY8|H0YLU8|H0YNT7|Q53ZD9|Q59FQ1|Q9UDH7	Missense_Mutation	SNP	ENST00000558518.1	37	c.2398G>A	CCDS12254.1	.	.	.	.	.	.	.	.	.	.	G	10.44	1.349498	0.24426	.	.	ENSG00000130164	ENST00000252444;ENST00000545707;ENST00000535915;ENST00000455727	D;D;D	0.90133	-2.62;-2.58;-2.62	4.79	-2.14	0.07123	Growth factor, receptor (1);	1.760750	0.03721	N	0.251851	T	0.81044	0.4741	N	0.20881	0.62	0.09310	N	1	B;B;B;B;B;B	0.12630	0.003;0.006;0.003;0.003;0.003;0.003	B;B;B;B;B;B	0.08055	0.003;0.003;0.002;0.002;0.002;0.002	T	0.64765	-0.6330	10	0.30854	T	0.27	.	2.3228	0.04215	0.3395:0.1269:0.4059:0.1277	.	632;622;679;759;812;800	B4DR00;B4DJZ8;B4DII3;B4DTQ3;Q59FQ1;P01130	.;.;.;.;.;LDLR_HUMAN	I	800;622;759;632	ENSP00000437639:V622I;ENSP00000440520:V759I;ENSP00000397829:V632I	ENSP00000252444:V800I	V	+	1	0	LDLR	11101197	0.000000	0.05858	0.001000	0.08648	0.003000	0.03518	-1.639000	0.02011	-0.130000	0.11599	0.650000	0.86243	GTC		0.547	LDLR-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000415973.2			4	51	0	0	0	1	0	4	51					A	11240197	G	A	11240197	3	1	257	1	0	0	0	0	1	0	0	0	8704	1145	40	1	2464	1	LDLR	19	11240197	Missense_Mutation	SNP	G	TCGA-HC-A9TH-01A-11D-A41K-08		11240197	47888786	57	12084											
TRPM4	54795	broad.mit.edu	37	chr19	49692202	49692202	+	Splice_Site	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	taactaactcctctgccccaGacctctttggcgagtgctat	8	12	7	14	1	2	1	0	0	2	1	3	2	3	1	4	1	4	1	4	1	3	4			TCGA-HC-A9TH-01A-11D-A41K-08	TCGA-HC-A9TH-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3512f7-1306-483f-a744-ffefce67c8d2	8fae14ec-5bd1-4057-a5f4-a7ce7e45e5f3	g.chr19:49692202G>C	ENST00000252826.5	+	14	1999		c.e14-1		TRPM4_ENST00000427978.2_Splice_Site|TRPM4_ENST00000355712.5_Splice_Site	NM_017636.3	NP_060106.2	Q8TD43	TRPM4_HUMAN	transient receptor potential cation channel, subfamily M, member 4						calcium ion transmembrane transport (GO:0070588)|cardiac conduction (GO:0061337)|dendritic cell chemotaxis (GO:0002407)|ion transmembrane transport (GO:0034220)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell proliferation (GO:0008284)|protein sumoylation (GO:0016925)|regulation of membrane potential (GO:0042391)|regulation of T cell cytokine production (GO:0002724)|transmembrane transport (GO:0055085)|vasoconstriction (GO:0042310)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium activated cation channel activity (GO:0005227)|calcium channel activity (GO:0005262)			breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(18)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	49		all_lung(116;8.54e-05)|Lung NSC(112;0.000139)|all_neural(266;0.0506)|Ovarian(192;0.15)		all cancers(93;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000222)|GBM - Glioblastoma multiforme(486;0.00339)|Epithelial(262;0.00751)		CTCTGCCCCAGACCTCTTTGG	0.607																																						ENST00000252826.5																			0				breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(18)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	49						c.e14-1		transient receptor potential cation channel, subfamily M, member 4							129	138	135					19																	49692202		2203	4300	6503	SO:0001630	splice_region_variant	54795				dendritic cell chemotaxis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell proliferation|protein sumoylation|regulation of T cell cytokine production	endoplasmic reticulum|Golgi apparatus|integral to membrane|plasma membrane	ATP binding|calcium activated cation channel activity|calmodulin binding	g.chr19:49692202G>C	AK000048	CCDS33073.1, CCDS56098.1	19q13.3	2011-12-14				ENSG00000130529		"Voltage-gated ion channels / Transient receptor potential cation channels"	17993	protein-coding gene	gene with protein product		606936				11535825, 16382100	Standard	NM_017636		Approved	FLJ20041	uc002pmw.3	Q8TD43		ENST00000252826.5:c.1874-1G>C	19.37:g.49692202G>C						TRPM4_ENST00000355712.5_Splice_Site|TRPM4_ENST00000427978.2_Splice_Site		NM_017636.3	NP_060106.2	Q8TD43	TRPM4_HUMAN		all cancers(93;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000222)|GBM - Glioblastoma multiforme(486;0.00339)|Epithelial(262;0.00751)	14	1999	+		all_lung(116;8.54e-05)|Lung NSC(112;0.000139)|all_neural(266;0.0506)|Ovarian(192;0.15)						A2RU25|Q7Z5D9|Q96L84|Q9NXV1	Splice_Site	SNP	ENST00000252826.5	37		CCDS33073.1	.	.	.	.	.	.	.	.	.	.	.	11.65	1.701587	0.30142	.	.	ENSG00000130529	ENST00000252826;ENST00000427978;ENST00000355712	.	.	.	4.32	4.32	0.51571	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.038	0.80645	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	TRPM4	54384014	1.000000	0.71417	0.999000	0.59377	0.038000	0.13279	8.285000	0.89914	2.156000	0.67533	0.455000	0.32223	.		0.607	TRPM4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465543.2	NM_017636	Intron	45	131	0	0	0	1	0	45	131					C	49692202	G	C	49692202	5	2	257	1	0	0	0	0	0	0	1	0	16585	956	33	5	1927	5	TRPM4	19	49692202	Splice_Site	SNP	G	TCGA-HC-A9TH-01A-11D-A41K-08	38452005	49692202	9436781	58	12085											
SHANK1	50944	broad.mit.edu	37	chr19	51165488	51165488	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgggtcggtgagagggagcGcgaggcccctgacaaggctc	7	4	19	11	4	0	2	0	2	0	1	2	5	0	3	2	5	1	1	2	5	1	0	rs549670535	byFrequency	TCGA-HC-A9TH-01A-11D-A41K-08	TCGA-HC-A9TH-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3512f7-1306-483f-a744-ffefce67c8d2	8fae14ec-5bd1-4057-a5f4-a7ce7e45e5f3	g.chr19:51165488G>A	ENST00000293441.1	-	23	6238	c.6220C>T	c.(6220-6222)Cgc>Tgc	p.R2074C	SHANK1_ENST00000483981.2_5'Flank|SYT3_ENST00000544769.1_Intron|SHANK1_ENST00000391814.1_Missense_Mutation_p.R2082C|SHANK1_ENST00000359082.3_Missense_Mutation_p.R2065C|SHANK1_ENST00000391813.1_Missense_Mutation_p.R1461C	NM_016148.2	NP_057232.2	Q9Y566	SHAN1_HUMAN	SH3 and multiple ankyrin repeat domains 1	2074					adult behavior (GO:0030534)|associative learning (GO:0008306)|cytoskeletal anchoring at plasma membrane (GO:0007016)|dendritic spine morphogenesis (GO:0060997)|determination of affect (GO:0050894)|habituation (GO:0046959)|long-term memory (GO:0007616)|negative regulation of actin filament bundle assembly (GO:0032232)|neuromuscular process controlling balance (GO:0050885)|olfactory behavior (GO:0042048)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|protein complex assembly (GO:0006461)|protein localization to synapse (GO:0035418)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|righting reflex (GO:0060013)|social behavior (GO:0035176)|synapse maturation (GO:0060074)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|excitatory synapse (GO:0060076)|intracellular (GO:0005622)|membrane (GO:0016020)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	ankyrin repeat binding (GO:0071532)|GKAP/Homer scaffold activity (GO:0030160)|identical protein binding (GO:0042802)|ionotropic glutamate receptor binding (GO:0035255)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|scaffold protein binding (GO:0097110)|SH3 domain binding (GO:0017124)|somatostatin receptor binding (GO:0031877)			breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		GAGAGGGAGCGCGAGGCCCCT	0.682													g|||	2	0.000399361	0	0	5008	,	,		12620	0.002		0	False		,,,				2504	0					ENST00000293441.1																			0				breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64						c.(6220-6222)Cgc>Tgc		SH3 and multiple ankyrin repeat domains 1							28	30	29					19																	51165488		2203	4299	6502	SO:0001583	missense	50944				cytoskeletal anchoring at plasma membrane	cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane	ionotropic glutamate receptor binding	g.chr19:51165488G>A	AF163302	CCDS12799.1	19q13.3	2013-01-10			ENSG00000161681	ENSG00000161681		"Sterile alpha motif (SAM) domain containing", "Ankyrin repeat domain containing"	15474	protein-coding gene	gene with protein product	"somatostatin receptor-interacting protein"	604999				10551867	Standard	NM_016148		Approved	SSTRIP, SPANK-1, synamon	uc002psx.1	Q9Y566	OTTHUMG00000137380	ENST00000293441.1:c.6220C>T	19.37:g.51165488G>A	ENSP00000293441:p.Arg2074Cys					SYT3_ENST00000544769.1_Intron|SHANK1_ENST00000391814.1_Missense_Mutation_p.R2082C|SHANK1_ENST00000391813.1_Missense_Mutation_p.R1461C|SHANK1_ENST00000359082.3_Missense_Mutation_p.R2065C	p.R2074C	NM_016148.2	NP_057232.2	Q9Y566	SHAN1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)	23	6238	-		all_neural(266;0.057)	2074					A8MXP5|B7WNY6|Q9NYW9	Missense_Mutation	SNP	ENST00000293441.1	37	c.6220C>T	CCDS12799.1	.	.	.	.	.	.	.	.	.	.	g	11.74	1.727370	0.30593	.	.	ENSG00000161681	ENST00000293441;ENST00000391813;ENST00000359082;ENST00000391814	T;T;T;T	0.54675	0.66;1.01;0.69;0.56	3.55	3.55	0.40652	.	0.683935	0.11773	U	0.530937	T	0.65626	0.2709	L	0.46157	1.445	0.80722	D	1	D;D	0.89917	0.999;1.0	P;D	0.67548	0.897;0.952	T	0.66709	-0.5855	10	0.72032	D	0.01	.	14.4496	0.67376	0.0:0.0:1.0:0.0	.	2074;1461	Q9Y566;Q9Y566-2	SHAN1_HUMAN;.	C	2074;1461;2065;2082	ENSP00000293441:R2074C;ENSP00000375689:R1461C;ENSP00000351984:R2065C;ENSP00000375690:R2082C	ENSP00000293441:R2074C	R	-	1	0	SHANK1	55857300	1.000000	0.71417	0.987000	0.45799	0.787000	0.44495	4.238000	0.58688	2.010000	0.58986	0.450000	0.29827	CGC		0.682	SHANK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268071.1	NM_016148		7	16	0	0	0	1	0	7	16					A	51165488	G	A	51165488	3	1	257	1	0	0	0	0	1	0	0	0	14264	1087	38	1	269	1	SHANK1	19	51165488	Missense_Mutation	SNP	G	TCGA-HC-A9TH-01A-11D-A41K-08	1473286	51165488	7963495	59	12086											
KLK3	354	broad.mit.edu	37	chr19	51361552	51361552	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctacgcctcaggctggggCagcattgaaccagaggagtg	9	7	15	10	1	1	2	1	1	0	1	1	3	1	3	2	4	4	4	2	4	2	2			TCGA-HC-A9TH-01A-11D-A41K-08	TCGA-HC-A9TH-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3512f7-1306-483f-a744-ffefce67c8d2	8fae14ec-5bd1-4057-a5f4-a7ce7e45e5f3	g.chr19:51361552C>G	ENST00000326003.2	+	3	515	c.474C>G	c.(472-474)ggC>ggG	p.G158G	KLK3_ENST00000595952.1_Silent_p.G115G|KLK3_ENST00000360617.3_Silent_p.G158G|KLK3_ENST00000597483.1_Silent_p.G115G|KLK3_ENST00000593997.1_Silent_p.G158G	NM_001030047.1|NM_001030048.1|NM_001648.2	NP_001025218.1|NP_001025219.1|NP_001639.1	P07288	KLK3_HUMAN	kallikrein-related peptidase 3	158	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				cellular protein metabolic process (GO:0044267)|negative regulation of angiogenesis (GO:0016525)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			breast(1)|cervix(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00763)|GBM - Glioblastoma multiforme(134;0.0144)		CAGGCTGGGGCAGCATTGAAC	0.652																																					Colon(185;1767 2023 13025 30120 37630)	ENST00000360617.3																			0				breast(1)|cervix(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						c.(472-474)ggC>ggG		kallikrein-related peptidase 3							52	50	50					19																	51361552		2203	4300	6503	SO:0001819	synonymous_variant	354				negative regulation of angiogenesis|proteolysis	extracellular region	serine-type endopeptidase activity	g.chr19:51361552C>G	X14810	CCDS12807.1, CCDS33083.1, CCDS46155.1	19q13.41	2012-10-02	2006-10-27			ENSG00000142515		"Kallikreins"	6364	protein-coding gene	gene with protein product		176820	"kallikrein 3, (prostate specific antigen)"	APS		2456523, 2436946, 16800724, 16800723	Standard	NM_001648		Approved	PSA	uc021uyi.1	P07288		ENST00000326003.2:c.474C>G	19.37:g.51361552C>G						KLK3_ENST00000593997.1_Silent_p.G158G|KLK3_ENST00000595952.1_Silent_p.G115G|KLK3_ENST00000597483.1_Silent_p.G115G|KLK3_ENST00000326003.2_Silent_p.G158G	p.G158G			P07288	KLK3_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00763)|GBM - Glioblastoma multiforme(134;0.0144)	3	474	+		all_neural(266;0.057)	158			Peptidase S1.		C9JXH3|G3V0H4|G3XAE3|Q15096|Q16272|Q86TG8|Q8IXI4	Silent	SNP	ENST00000326003.2	37	c.474C>G	CCDS12807.1																																																																																				0.652	KLK3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464067.1	NM_145864		12	18	0	0	0	1	0	12	18					G	51361552	C	G	51361552	2	3	257	1	0	0	0	0	0	0	0	1	8405	697	25	5		5	KLK3	19	51361552	Silent	SNP	C	TCGA-HC-A9TH-01A-11D-A41K-08	196064	51361552	7767431	60	12087											
SLC9A8	23315	broad.mit.edu	37	chr20	48479505	48479505	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agaaaaaatatgtcagatgtCagtgggtggcaaacattttt	15	12	10	4	0	2	2	2	0	0	2	2	2	2	2	0	2	1	1	0	2	5	3	rs367591345		TCGA-HC-A9TH-01A-11D-A41K-08	TCGA-HC-A9TH-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3512f7-1306-483f-a744-ffefce67c8d2	8fae14ec-5bd1-4057-a5f4-a7ce7e45e5f3	g.chr20:48479505C>G	ENST00000361573.2	+	9	795	c.753C>G	c.(751-753)gtC>gtG	p.V251V	SLC9A8_ENST00000417961.1_Silent_p.V267V|SLC9A8_ENST00000539601.1_Silent_p.V32V|SLC9A8_ENST00000541138.1_Intron			Q9Y2E8	SL9A8_HUMAN	solute carrier family 9, subfamily A (NHE8, cation proton antiporter 8), member 8	251					ion transport (GO:0006811)|regulation of intracellular pH (GO:0051453)|transmembrane transport (GO:0055085)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	potassium:proton antiporter activity (GO:0015386)|sodium:proton antiporter activity (GO:0015385)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	30			BRCA - Breast invasive adenocarcinoma(9;3.91e-07)			TGTCAGATGTCAGTGGGTGGC	0.358																																						ENST00000417961.1																			0				NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	30						c.(799-801)gtC>gtG		solute carrier family 9, subfamily A (NHE8, cation proton antiporter 8), member 8		C		0,4406		0,0,2203	87	84	85		753	5.3	1	20		85	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	SLC9A8	NM_015266.1		0,1,6502	GG,GC,CC		0.0116,0.0,0.0077		251/582	48479505	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	23315					Golgi membrane|integral to membrane	sodium:hydrogen antiporter activity	g.chr20:48479505C>G	AB023156	CCDS13421.1, CCDS58774.1	20q13.13	2013-05-22	2012-03-22		ENSG00000197818	ENSG00000197818		"Solute carriers"	20728	protein-coding gene	gene with protein product		612730	"solute carrier family 9 (sodium/hydrogen exchanger), isoform 8", "solute carrier family 9 (sodium/hydrogen exchanger), member 8"			12409279	Standard	NM_001260491		Approved	KIAA0939, NHE8	uc002xuv.2	Q9Y2E8	OTTHUMG00000032710	ENST00000361573.2:c.753C>G	20.37:g.48479505C>G						SLC9A8_ENST00000361573.2_Silent_p.V251V|SLC9A8_ENST00000539601.1_Silent_p.V32V|SLC9A8_ENST00000541138.1_Intron	p.V267V	NM_001260491.1|NM_015266.2	NP_001247420.1|NP_056081.1	Q9Y2E8	SL9A8_HUMAN	BRCA - Breast invasive adenocarcinoma(9;3.91e-07)		9	1011	+			251					B4DTQ8|Q2M1U9|Q68CZ8|Q9BX15|Q9Y507	Silent	SNP	ENST00000361573.2	37	c.801C>G	CCDS13421.1																																																																																				0.358	SLC9A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106483.3	XM_030524		20	55	0	0	0	1	0	20	55					G	48479505	C	G	48479505	2	3	257	1	0	0	0	0	0	0	0	1	14720	813	29	5		5	SLC9A8	20	48479505	Silent	SNP	C	TCGA-HC-A9TH-01A-11D-A41K-08		48479505	14546015	61	12088											
TRAPPC10	7109	broad.mit.edu	37	chr21	45475738	45475738	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgagggagaagaggactgaGccaggctggagcttttgtga	10	9	17	5	0	0	5	0	3	0	2	0	8	0	7	1	4	2	2	1	4	1	3			TCGA-HC-A9TH-01A-11D-A41K-08	TCGA-HC-A9TH-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3512f7-1306-483f-a744-ffefce67c8d2	8fae14ec-5bd1-4057-a5f4-a7ce7e45e5f3	g.chr21:45475738G>C	ENST00000291574.4	+	5	817	c.642G>C	c.(640-642)gaG>gaC	p.E214D	TRAPPC10_ENST00000380221.3_Missense_Mutation_p.E214D	NM_003274.4	NP_003265.3	P48553	TPC10_HUMAN	trafficking protein particle complex 10	214					sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|vesicle-mediated transport (GO:0016192)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	sodium ion transmembrane transporter activity (GO:0015081)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(4)	41						AGAGGACTGAGCCAGGCTGGA	0.453																																						ENST00000291574.4																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(4)	41						c.(640-642)gaG>gaC		trafficking protein particle complex 10							167	167	167					21																	45475738		2203	4300	6503	SO:0001583	missense	7109				vesicle-mediated transport	Golgi apparatus|integral to membrane	binding|sodium ion transmembrane transporter activity	g.chr21:45475738G>C	U19252	CCDS13704.1	21q22.3	2008-05-07	2008-05-07	2008-05-07	ENSG00000160218	ENSG00000160218		"Trafficking protein particle complex"	11868	protein-coding gene	gene with protein product	"trafficking protein particle complex subunit 130", "TRAPP 130 kDa subunit"	602103	"transmembrane protein 1"	TMEM1		7633421	Standard	NM_003274		Approved	EHOC-1, TRS130	uc002zea.3	P48553	OTTHUMG00000086894	ENST00000291574.4:c.642G>C	21.37:g.45475738G>C	ENSP00000291574:p.Glu214Asp					TRAPPC10_ENST00000380221.3_Missense_Mutation_p.E214D	p.E214D	NM_003274.4	NP_003265.3	P48553	TPC10_HUMAN			5	817	+			214					Q3MIR2|Q86SI7|Q9UMD4|Q9Y4L3	Missense_Mutation	SNP	ENST00000291574.4	37	c.642G>C	CCDS13704.1	.	.	.	.	.	.	.	.	.	.	G	14.59	2.580285	0.46006	.	.	ENSG00000160218	ENST00000380221;ENST00000291574	T;T	0.36699	1.24;1.24	5.55	4.47	0.54385	Tetratricopeptide-like helical (1);	0.054220	0.64402	D	0.000001	T	0.31606	0.0802	L	0.42245	1.32	0.48762	D	0.999709	P;P	0.36837	0.53;0.571	B;B	0.36608	0.166;0.229	T	0.14144	-1.0483	10	0.52906	T	0.07	.	12.6165	0.56580	0.1477:0.0:0.8523:0.0	.	214;214	P48553;Q86SI7	TPC10_HUMAN;.	D	214	ENSP00000369570:E214D;ENSP00000291574:E214D	ENSP00000291574:E214D	E	+	3	2	TRAPPC10	44300166	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.954000	0.40362	2.592000	0.87571	0.655000	0.94253	GAG		0.453	TRAPPC10-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000195737.1	NM_003274		33	56	0	0	0	1	0	33	56					C	45475738	G	C	45475738	3	2	257	1	0	0	0	0	1	0	0	0	16454	962	34	5	660	5	TRAPPC10	21	45475738	Missense_Mutation	SNP	G	TCGA-HC-A9TH-01A-11D-A41K-08		45475738	2654157	62	12089											
KRTAP10-6	386674	broad.mit.edu	37	chr21	46011562	46011562	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagacgggcacacagcaggcGtgctggcagggggaggaggt	9	3	20	9	2	0	1	0	0	0	1	0	3	0	3	0	7	2	4	0	7	0	0			TCGA-HC-A9TH-01A-11D-A41K-08	TCGA-HC-A9TH-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3512f7-1306-483f-a744-ffefce67c8d2	8fae14ec-5bd1-4057-a5f4-a7ce7e45e5f3	g.chr21:46011562G>C	ENST00000400368.1	-	1	824	c.804C>G	c.(802-804)caC>caG	p.H268Q	TSPEAR_ENST00000323084.4_Intron	NM_198688.2	NP_941961.2	P60371	KR106_HUMAN	keratin associated protein 10-6	268	29 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)		p.H268Q(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(6)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	23						CACAGCAGGCGTGCTGGCAGG	0.642																																						ENST00000400368.1																			1	Substitution - Missense(1)	p.H268Q(1)	lung(1)	endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(6)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	23						c.(802-804)caC>caG		keratin associated protein 10-6							114	116	116					21																	46011562		2203	4300	6503	SO:0001583	missense	386674					keratin filament		g.chr21:46011562G>C	AB076353	CCDS42959.1	21q22.3	2006-03-13	2004-07-12	2004-07-14	ENSG00000188155	ENSG00000188155		"Keratin associated proteins"	20523	protein-coding gene	gene with protein product			"keratin associated protein 18-6"	KRTAP18-6			Standard	NM_198688		Approved	KRTAP18.6, KAP18.6, KAP10.6	uc002zfm.3	P60371	OTTHUMG00000057634	ENST00000400368.1:c.804C>G	21.37:g.46011562G>C	ENSP00000383219:p.His268Gln					TSPEAR_ENST00000323084.4_Intron	p.H268Q	NM_198688.2	NP_941961.2	P60371	KR106_HUMAN			1	824	-			268			29 X 5 AA repeats of C-C-X(3).			Missense_Mutation	SNP	ENST00000400368.1	37	c.804C>G	CCDS42959.1	.	.	.	.	.	.	.	.	.	.	g	0.001	-3.152357	0.00028	.	.	ENSG00000188155	ENST00000400368	T	0.00695	5.83	1.71	-3.41	0.04839	.	.	.	.	.	T	0.00210	0.0006	N	0.00029	-2.625	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.52094	-0.8621	9	0.45353	T	0.12	.	2.3081	0.04179	0.1478:0.4281:0.2702:0.1539	.	268	P60371	KR106_HUMAN	Q	268	ENSP00000383219:H268Q	ENSP00000383219:H268Q	H	-	3	2	KRTAP10-6	44835990	0.000000	0.05858	0.017000	0.16124	0.069000	0.16628	-8.207000	0.00023	-3.236000	0.00208	-2.876000	0.00098	CAC		0.642	KRTAP10-6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128037.1	NM_198688		4	106	0	0	0	1	0	4	106					C	46011562	G	C	46011562	3	2	257	1	0	0	0	0	1	0	0	0	8513	1136	40	5	297	5	KRTAP10-6	21	46011562	Missense_Mutation	SNP	G	TCGA-HC-A9TH-01A-11D-A41K-08	535824	46011562	2118333	63	12090											
KRTAP10-9	386676	broad.mit.edu	37	chr21	46047205	46047205	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gccaccagctgctgcgccccGgccccctgcctgaccctggt	3	6	11	21	2	0	1	0	1	0	0	0	1	0	1	8	2	4	2	8	2	0	0	rs368541625		TCGA-HC-A9TH-01A-11D-A41K-08	TCGA-HC-A9TH-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3512f7-1306-483f-a744-ffefce67c8d2	8fae14ec-5bd1-4057-a5f4-a7ce7e45e5f3	g.chr21:46047205G>A	ENST00000397911.3	+	1	166	c.117G>A	c.(115-117)ccG>ccA	p.P39P	KRTAP10-9_ENST00000484861.1_3'UTR|TSPEAR_ENST00000323084.4_Intron	NM_198690.2	NP_941963.2	P60411	KR109_HUMAN	keratin associated protein 10-9	39	25 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)				endometrium(1)|kidney(1)|large_intestine(1)|lung(6)	9						GCTGCGCCCCGGCCCCCTGCC	0.687																																						ENST00000397911.3																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(6)	9						c.(115-117)ccG>ccA		keratin associated protein 10-9		G	,	0,4348		0,0,2174	34	43	40		,117	-7.2	0	21		40	1,8541		0,1,4270	no	intron,coding-synonymous	TSPEAR,KRTAP10-9	NM_144991.2,NM_198690.2	,	0,1,6444	AA,AG,GG		0.0117,0.0,0.0078	,	,39/293	46047205	1,12889	2174	4271	6445	SO:0001819	synonymous_variant	386676					keratin filament		g.chr21:46047205G>A	AJ566386	CCDS42961.1	21q22.3	2007-10-05			ENSG00000221837	ENSG00000221837		"Keratin associated proteins"	22971	protein-coding gene	gene with protein product				KRTAP18-9			Standard	NM_198690		Approved	KAP10.9, KAP18.9	uc002zfp.4	P60411	OTTHUMG00000057637	ENST00000397911.3:c.117G>A	21.37:g.46047205G>A						KRTAP10-9_ENST00000484861.1_3'UTR|TSPEAR_ENST00000323084.4_Intron	p.P39P	NM_198690.2	NP_941963.2	P60411	KR109_HUMAN			1	166	+			39			25 X 5 AA repeats of C-C-X(3).		A2RRG1|A6NIR9|Q70LJ1	Silent	SNP	ENST00000397911.3	37	c.117G>A	CCDS42961.1																																																																																				0.687	KRTAP10-9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128040.1			13	45	0	0	0	1	0	13	45					A	46047205	G	A	46047205	2	1	257	1	0	0	0	0	0	0	0	1	8516	1103	39	2		2	KRTAP10-9	21	46047205	Silent	SNP	G	TCGA-HC-A9TH-01A-11D-A41K-08	35643	46047205	2082690	64	12091											
ACO2	50	broad.mit.edu	37	chr22	41911452	41911452	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcccacacccccaatggtggCggccttgggggcatctgcat	6	8	12	15	1	1	0	0	0	1	0	2	0	2	0	4	5	1	2	4	5	1	1	rs374086380		TCGA-HC-A9TH-01A-11D-A41K-08	TCGA-HC-A9TH-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3512f7-1306-483f-a744-ffefce67c8d2	8fae14ec-5bd1-4057-a5f4-a7ce7e45e5f3	g.chr22:41911452C>T	ENST00000216254.4	+	5	619	c.597C>T	c.(595-597)ggC>ggT	p.G199G	ACO2_ENST00000396512.3_Silent_p.G199G	NM_001098.2	NP_001089.1	Q99798	ACON_HUMAN	aconitase 2, mitochondrial	199				G -> D (in Ref. 4; CAG38805). {ECO:0000305}.	cell death (GO:0008219)|cellular metabolic process (GO:0044237)|citrate metabolic process (GO:0006101)|generation of precursor metabolites and energy (GO:0006091)|isocitrate metabolic process (GO:0006102)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	3 iron, 4 sulfur cluster binding (GO:0051538)|4 iron, 4 sulfur cluster binding (GO:0051539)|aconitate hydratase activity (GO:0003994)|iron ion binding (GO:0005506)			breast(3)|endometrium(5)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	23						CCAATGGTGGCGGCCTTGGGG	0.527																																						ENST00000396512.3																			0				breast(3)|endometrium(5)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	23						c.(595-597)ggC>ggT		aconitase 2, mitochondrial		T		0,4406		0,0,2203	69	71	71		597	-9	0.4	22		71	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	ACO2	NM_001098.2		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		199/781	41911452	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	50				citrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix|nucleus	4 iron, 4 sulfur cluster binding|aconitate hydratase activity|citrate hydro-lyase (cis-aconitate-forming) activity|iron ion binding|isocitrate hydro-lyase (cis-aconitate-forming) activity	g.chr22:41911452C>T	AH006514	CCDS14017.1	22q13.2	2013-05-21			ENSG00000100412	ENSG00000100412	4.2.1.3		118	protein-coding gene	gene with protein product	"aconitate hydratase, mitochondrial"	100850				10591208	Standard	NM_001098		Approved	ACONM	uc003bac.3	Q99798	OTTHUMG00000030544	ENST00000216254.4:c.597C>T	22.37:g.41911452C>T						ACO2_ENST00000216254.4_Silent_p.G199G	p.G199G			Q99798	ACON_HUMAN			5	614	+			199	G -> D (in Ref. 4; CAG38805).				O75809|Q5JZ41|Q6FHX0|Q8TAQ6	Silent	SNP	ENST00000216254.4	37	c.597C>T	CCDS14017.1																																																																																				0.527	ACO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259151.1	NM_001098		29	58	0	0	0	1	0	29	58					T	41911452	C	T	41911452	2	4	257	1	0	0	0	0	0	0	0	1	147	755	27	1		1	ACO2	22	41911452	Silent	SNP	C	TCGA-HC-A9TH-01A-11D-A41K-08		41911452	9393114	65	12092											
GAGE2A	729408	broad.mit.edu	37	chrX	49208295	49208296	+	In_Frame_Ins	INS	-	-	TAT																															gttggcgaggaagatcgaccINStatcggcctagaccaagacg																								rs372553636		TCGA-HC-A9TH-01A-11D-A41K-08	TCGA-HC-A9TH-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3512f7-1306-483f-a744-ffefce67c8d2	8fae14ec-5bd1-4057-a5f4-a7ce7e45e5f3	g.chrX:49208295_49208296insTAT	ENST00000404720.2	+	2	96_97	c.24_25insTAT	c.(25-27)tat>TATtat	p.9_9Y>YY		NM_001098407.1|NM_012196.1	NP_001091877.1|NP_036328.1	Q9UEU5	GGE2D_HUMAN	G antigen 2D	9					cellular defense response (GO:0006968)												GAAGATCGACCTATCGGCCTAG	0.465														477	0.126358	0.031	0.098	3775	,	,		26951	0.0972		0.1441	False		,,,				2504	0.1278					ENST00000404720.2																			0											c.(22-27)acatcg>acTATatcg		G antigen 2D				10,505,1500		1,1,3,4,46,330,82,490,187						-1.1	0			8	27,1244,2482		1,3,16,6,128,539,446,675,577	no	codingComplex	GAGE2D	NM_001098407.1		2,4,19,10,174,869,528,1165,764	A1A1,A1A2,A1R,A1,A2A2,A2R,A2,RR,R		33.8662,25.5583,30.9639				37,1749,3982				SO:0001652	inframe_insertion	729408							g.chrX:49208295_49208296insTAT			Xp11.23	2012-10-02			ENSG00000240257				31959	protein-coding gene	gene with protein product		300735					Standard	NM_001098407		Approved	GAGE8		Q9UEU5	OTTHUMG00000067393	ENST00000404720.2:c.25_27dupTAT	X.37:g.49208296_49208298dupTAT	ENSP00000386110:p.Tyr9dup						p.8_9TS>TIS	NM_001098407.1|NM_012196.1	NP_001091877.1|NP_036328.1					2	96_97	+								A6NG46|A6NNR8|B7ZL76|Q4V325	In_Frame_Ins	INS	ENST00000404720.2	37	c.24_25insTAT	CCDS43941.1																																																																																				0.465	GAGE2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000144212.1	NM_001098407		3	3						3	3	---	---	---	---	TAT	49208296	-	TAT	49208295	7	5	257	1	0	1	1	0	0	0	0	0	6190	668	24	0	236	0	GAGE2A	23	49208295	In_Frame_Ins	INS	-	TCGA-HC-A9TH-01A-11D-A41K-08		49208295	106062265	66	12093											
SPTA1	6708	broad.mit.edu	37	chr1	158639553	158639553	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	taatggtcatcaccaatcaaTttggttgcagtcttgtctac	10	15	7	9	0	5	0	3	0	2	0	5	0	5	0	1	2	2	2	1	2	4	5			TCGA-HI-7168-01A-11D-2114-08	TCGA-HI-7168-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1706aa-9a73-4b24-b51d-56d3764ea665	0c6efb93-b45f-4607-a8cf-c8b24859ad5d	g.chr1:158639553T>C	ENST00000368147.4	-	13	1803	c.1623A>G	c.(1621-1623)aaA>aaG	p.K541K		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	541					actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					CACCAATCAATTTGGTTGCAG	0.418																																						ENST00000368148.3																			0				NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307						c.(1621-1623)aaA>aaG		spectrin, alpha, erythrocytic 1 (elliptocytosis 2)							207	191	196					1																	158639553		1887	4104	5991	SO:0001819	synonymous_variant	6708				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	g.chr1:158639553T>C	M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"EF-hand domain containing"	11272	protein-coding gene	gene with protein product	"elliptocytosis 2"	182860	"spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.1623A>G	1.37:g.158639553T>C						SPTA1_ENST00000368147.3_Silent_p.K541K	p.K541K	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN			13	1803	-	all_hematologic(112;0.0378)		541					Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Silent	SNP	ENST00000368147.4	37	c.1623A>G	CCDS41423.1																																																																																				0.418	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126		103	170	0	0	0	1	0	103	170					C	158639553	T	C	158639553	2	2	258	1	0	0	0	0	0	0	0	1	15115	1490	52	4		4	SPTA1	1	158639553	Silent	SNP	T	TCGA-HI-7168-01A-11D-2114-08		158639553	90611068	1	12094											
PDIA6	10130	broad.mit.edu	37	chr2	10929048	10929048	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaaggatatggggcagcacAgccacaacacagagctggtg	13	5	13	10	0	1	1	1	0	0	1	1	2	1	2	1	4	4	3	1	4	3	1			TCGA-HI-7168-01A-11D-2114-08	TCGA-HI-7168-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1706aa-9a73-4b24-b51d-56d3764ea665	0c6efb93-b45f-4607-a8cf-c8b24859ad5d	g.chr2:10929048A>T	ENST00000272227.3	-	9	1047	c.900T>A	c.(898-900)gcT>gcA	p.A300A	PDIA6_ENST00000381611.4_Silent_p.A305A|PDIA6_ENST00000404824.2_Silent_p.A348A|PDIA6_ENST00000404371.2_Silent_p.A352A|PDIA6_ENST00000540494.1_Silent_p.A297A	NM_001282707.1|NM_005742.2	NP_001269636.1|NP_005733.1	Q15084	PDIA6_HUMAN	protein disulfide isomerase family A, member 6	300					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|apoptotic cell clearance (GO:0043277)|cell redox homeostasis (GO:0045454)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|protein folding (GO:0006457)|response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	protein disulfide isomerase activity (GO:0003756)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|prostate(2)	18	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.149)|OV - Ovarian serous cystadenocarcinoma(76;0.15)		GGGGCAGCACAGCCACAACAC	0.463																																					GBM(73;509 1219 34219 41343 41551)	ENST00000404371.2																			0				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|prostate(2)	18						c.(1054-1056)gcT>gcA		protein disulfide isomerase family A, member 6							148	140	143					2																	10929048		2203	4300	6503	SO:0001819	synonymous_variant	10130				cell redox homeostasis|glycerol ether metabolic process|protein folding	endoplasmic reticulum lumen|ER-Golgi intermediate compartment|melanosome|plasma membrane	electron carrier activity|protein binding|protein disulfide isomerase activity|protein disulfide oxidoreductase activity	g.chr2:10929048A>T	BC001312	CCDS1675.1, CCDS62852.1, CCDS62853.1, CCDS62854.1, CCDS62855.1	2p25.1	2009-11-20	2005-06-29	2005-03-03	ENSG00000143870	ENSG00000143870	5.3.4.1	"Protein disulfide isomerases"	30168	protein-coding gene	gene with protein product	"protein disulfide isomerase-related protein"	611099	"thioredoxin domain containing 7 (protein disulfide isomerase)", "protein disulfide isomerase-associated 6"	TXNDC7		7590364, 12204115	Standard	XM_005246145		Approved	P5, ERp5	uc002rau.3	Q15084	OTTHUMG00000090479	ENST00000272227.3:c.900T>A	2.37:g.10929048A>T						PDIA6_ENST00000540494.1_Silent_p.A297A|PDIA6_ENST00000404824.2_Silent_p.A348A|PDIA6_ENST00000381611.4_Silent_p.A305A|PDIA6_ENST00000272227.3_Silent_p.A300A	p.A352A			Q15084	PDIA6_HUMAN		Epithelial(75;0.149)|OV - Ovarian serous cystadenocarcinoma(76;0.15)	11	1393	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)		300					B3KY95|B5MCQ5|B7Z254|B7Z4M8|F8WA83|Q53RC7|Q6ZSH5|Q99778	Silent	SNP	ENST00000272227.3	37	c.1056T>A	CCDS1675.1																																																																																				0.463	PDIA6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000206933.1	NM_005742		50	81	0	0	0	1	0	50	81					T	10929048	A	T	10929048	2	4	258	1	0	0	0	0	0	0	0	1	11672	175	7	5		5	PDIA6	2	10929048	Silent	SNP	A	TCGA-HI-7168-01A-11D-2114-08		10929048	232270325	2	12095											
CD207	50489	broad.mit.edu	37	chr2	71058862	71058862	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaccttgttgaatggcgtgTcatccacccaggaccagtcc	8	9	11	13	1	1	1	1	1	0	0	3	3	3	3	5	3	0	1	5	3	1	2			TCGA-HI-7168-01A-11D-2114-08	TCGA-HI-7168-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1706aa-9a73-4b24-b51d-56d3764ea665	0c6efb93-b45f-4607-a8cf-c8b24859ad5d	g.chr2:71058862T>C	ENST00000410009.3	-	5	851	c.806A>G	c.(805-807)gAc>gGc	p.D269G		NM_015717.3	NP_056532	Q9UJ71	CLC4K_HUMAN	CD207 molecule, langerin	269	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|defense response to virus (GO:0051607)	clathrin-coated endocytic vesicle membrane (GO:0030669)|early endosome membrane (GO:0031901)|endocytic vesicle (GO:0030139)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|mannose binding (GO:0005537)			endometrium(1)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|stomach(1)	20						GAATGGCGTGTCATCCACCCA	0.572																																						ENST00000410009.3																			0				endometrium(1)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|stomach(1)	20						c.(805-807)gAc>gGc		CD207 molecule, langerin							127	137	134					2																	71058862		2051	4192	6243	SO:0001583	missense	50489				defense response to virus	endocytic vesicle|integral to membrane	mannose binding	g.chr2:71058862T>C	AJ242859	CCDS74520.1	2p13	2011-08-30	2006-03-28		ENSG00000116031	ENSG00000116031		"C-type lectin domain containing", "CD molecules"	17935	protein-coding gene	gene with protein product		604862	"CD207 antigen, langerin"			10661407, 9847074	Standard	NM_015717		Approved	Langerin, CLEC4K	uc002shg.3	Q9UJ71	OTTHUMG00000153176	ENST00000410009.3:c.806A>G	2.37:g.71058862T>C	ENSP00000386378:p.Asp269Gly						p.D269G	NM_015717.3	NP_056532.3	Q9UJ71	CLC4K_HUMAN			5	851	-			269			C-type lectin.			Missense_Mutation	SNP	ENST00000410009.3	37	c.806A>G		.	.	.	.	.	.	.	.	.	.	T	0.278	-0.988373	0.02162	.	.	ENSG00000116031	ENST00000410009	T	0.07021	3.23	4.78	-0.708	0.11241	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	1.204330	0.06002	N	0.648005	T	0.01835	0.0058	N	0.00300	-1.685	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.43621	-0.9380	10	0.02654	T	1	.	7.4699	0.27342	0.0:0.5137:0.0:0.4862	.	269	Q9UJ71	CLC4K_HUMAN	G	269	ENSP00000386378:D269G	ENSP00000386378:D269G	D	-	2	0	CD207	70912370	0.000000	0.05858	0.004000	0.12327	0.036000	0.12997	0.242000	0.18087	0.008000	0.14787	0.523000	0.50628	GAC		0.572	CD207-001	KNOWN	non_canonical_conserved|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000329959.4	NM_015717		33	30	0	0	0	1	0	33	30					C	71058862	T	C	71058862	3	2	258	1	0	0	0	0	1	0	0	0	2983	1667	58	4	188	4	CD207	2	71058862	Missense_Mutation	SNP	T	TCGA-HI-7168-01A-11D-2114-08	60129814	71058862	172140511	3	12096											
DGUOK	1716	broad.mit.edu	37	chr2	74166089	74166089	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	acgaaaacttacccagaatgGcacgtagctacagaacctgt	15	7	8	11	2	0	2	0	0	0	2	0	3	0	2	2	1	5	3	2	1	7	3	rs140307681		TCGA-HI-7168-01A-11D-2114-08	TCGA-HI-7168-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1706aa-9a73-4b24-b51d-56d3764ea665	0c6efb93-b45f-4607-a8cf-c8b24859ad5d	g.chr2:74166089G>T	ENST00000264093.4	+	2	280	c.195G>T	c.(193-195)tgG>tgT	p.W65C	DGUOK_ENST00000462685.1_Intron|DGUOK_ENST00000356837.6_Intron|DGUOK_ENST00000348222.1_Missense_Mutation_p.W65C	NM_080916.2	NP_550438.1	Q16854	DGUOK_HUMAN	deoxyguanosine kinase	65					deoxyribonucleoside monophosphate biosynthetic process (GO:0009157)|dGTP metabolic process (GO:0046070)|guanosine metabolic process (GO:0008617)|negative regulation of neuron projection development (GO:0010977)|nucleobase-containing small molecule metabolic process (GO:0055086)|nucleotide biosynthetic process (GO:0009165)|protein phosphorylation (GO:0006468)|purine deoxyribonucleoside metabolic process (GO:0046122)|purine nucleobase metabolic process (GO:0006144)|purine-containing compound salvage (GO:0043101)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|deoxyguanosine kinase activity (GO:0004138)|nucleoside kinase activity (GO:0019206)			endometrium(1)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	8					Nelarabine(DB01280)	ACCCAGAATGGCACGTAGCTA	0.473																																						ENST00000264093.4																			0				endometrium(1)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	8	GRCh37	CM080194	DGUOK	M	rs140307681	c.(193-195)tgG>tgT		deoxyguanosine kinase							143	128	133					2																	74166089		2203	4300	6503	SO:0001583	missense	1716				guanosine metabolic process|purine base metabolic process|purine deoxyribonucleoside metabolic process|purine-containing compound salvage	mitochondrial matrix	ATP binding|deoxyguanosine kinase activity|phosphotransferase activity, alcohol group as acceptor	g.chr2:74166089G>T	U41668	CCDS1931.1, CCDS1932.1	2p13	2008-02-05			ENSG00000114956	ENSG00000114956	2.7.1.113		2858	protein-coding gene	gene with protein product		601465					Standard	NM_080916		Approved	dGK	uc002sjx.3	Q16854	OTTHUMG00000129819	ENST00000264093.4:c.195G>T	2.37:g.74166089G>T	ENSP00000264093:p.Trp65Cys					DGUOK_ENST00000462685.1_Intron|DGUOK_ENST00000356837.6_Intron|DGUOK_ENST00000348222.1_Missense_Mutation_p.W65C	p.W65C	NM_080916.2	NP_550438.1	Q16854	DGUOK_HUMAN			2	280	+			65					P78532|Q16759|Q4ZG09|Q7L1W9|Q96BC1	Missense_Mutation	SNP	ENST00000264093.4	37	c.195G>T	CCDS1931.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.046798	0.75846	.	.	ENSG00000114956	ENST00000264093;ENST00000348222	D;D	0.94330	-3.4;-3.4	5.25	5.25	0.73442	.	0.000000	0.85682	D	0.000000	D	0.96870	0.8978	M	0.83384	2.64	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.97388	0.9987	10	0.72032	D	0.01	-9.5802	17.6052	0.88036	0.0:0.0:1.0:0.0	.	65;65	E5KSL6;Q16854	.;DGUOK_HUMAN	C	65	ENSP00000264093:W65C;ENSP00000306964:W65C	ENSP00000264093:W65C	W	+	3	0	DGUOK	74019597	1.000000	0.71417	0.999000	0.59377	0.965000	0.64279	6.382000	0.73167	2.462000	0.83206	0.555000	0.69702	TGG		0.473	DGUOK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252050.1			4	62	1	0	0.00024832	1	0.000273789	4	62					T	74166089	G	T	74166089	3	4	258	1	0	0	0	0	1	0	0	0	4475	1212	42	5	201	5	DGUOK	2	74166089	Missense_Mutation	SNP	G	TCGA-HI-7168-01A-11D-2114-08	3107227	74166089	169033284	4	12097											
REV1	51455	broad.mit.edu	37	chr2	100055181	100055181	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acaaactcagtcaattcacaCttccacattgatatgtgatg	14	12	5	10	0	3	2	3	2	0	0	4	2	4	2	1	0	1	0	1	0	3	4			TCGA-HI-7168-01A-11D-2114-08	TCGA-HI-7168-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1706aa-9a73-4b24-b51d-56d3764ea665	0c6efb93-b45f-4607-a8cf-c8b24859ad5d	g.chr2:100055181C>T	ENST00000258428.3	-	6	1323	c.1095G>A	c.(1093-1095)aaG>aaA	p.K365K	REV1_ENST00000465835.1_5'UTR|REV1_ENST00000393445.3_Silent_p.K365K	NM_001037872.1|NM_016316.2	NP_001032961.1|NP_057400.1	Q9UBZ9	REV1_HUMAN	REV1, polymerase (DNA directed)	365					DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA-dependent DNA replication (GO:0006261)|error-prone translesion synthesis (GO:0042276)|response to UV (GO:0009411)	nucleoplasm (GO:0005654)	damaged DNA binding (GO:0003684)|deoxycytidyl transferase activity (GO:0017125)|DNA-directed DNA polymerase activity (GO:0003887)|magnesium ion binding (GO:0000287)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(14)|lung(12)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TCAATTCACACTTCCACATTG	0.383								Direct reversal of damage																														ENST00000258428.3																			0				NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(14)|lung(12)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						c.(1093-1095)aaG>aaA	Direct reversal of damage	REV1, polymerase (DNA directed)							104	108	107					2																	100055181		2203	4300	6503	SO:0001819	synonymous_variant	51455				DNA replication|error-prone translesion synthesis|response to UV	nucleoplasm	damaged DNA binding|DNA-directed DNA polymerase activity|magnesium ion binding|protein binding	g.chr2:100055181C>T	AF206019	CCDS2045.1, CCDS42722.1	2q11.1-q11.2	2012-05-18	2012-05-18	2006-11-07	ENSG00000135945	ENSG00000135945		"DNA polymerases"	14060	protein-coding gene	gene with protein product		606134	"REV1 (yeast homolog)- like", "REV1-like (yeast)", "REV1 homolog (S. cerevisiae)"	REV1L		10536157	Standard	XM_005263968		Approved		uc002tad.3	Q9UBZ9	OTTHUMG00000130636	ENST00000258428.3:c.1095G>A	2.37:g.100055181C>T						REV1_ENST00000393445.3_Silent_p.K365K|REV1_ENST00000465835.1_5'UTR	p.K365K	NM_001037872.1|NM_016316.2	NP_001032961.1|NP_057400.1	Q9UBZ9	REV1_HUMAN			6	1323	-			365					O95941|Q53SI7|Q9C0J4|Q9NUP2	Silent	SNP	ENST00000258428.3	37	c.1095G>A	CCDS2045.1																																																																																				0.383	REV1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253123.2	NM_016316		18	137	0	0	0	1	0	18	137					T	100055181	C	T	100055181	2	4	258	1	0	0	0	0	0	0	0	1	13239	564	20	3		3	REV1	2	100055181	Silent	SNP	C	TCGA-HI-7168-01A-11D-2114-08	25889092	100055181	143144192	5	12098											
RBM44	375316	broad.mit.edu	37	chr2	238726721	238726721	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctggacctctgtttttgatGattcgataatttctgcctgt	6	18	8	9	1	2	2	0	2	2	0	3	4	2	3	3	1	1	1	3	1	1	5			TCGA-HI-7168-01A-11D-2114-08	TCGA-HI-7168-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1706aa-9a73-4b24-b51d-56d3764ea665	0c6efb93-b45f-4607-a8cf-c8b24859ad5d	g.chr2:238726721G>T	ENST00000409864.1	+	3	1416	c.1162G>T	c.(1162-1164)Gat>Tat	p.D388Y	RBM44_ENST00000316997.4_Missense_Mutation_p.D388Y|RBM44_ENST00000444524.2_Intron			Q6ZP01	RBM44_HUMAN	RNA binding motif protein 44	387						cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)	nucleotide binding (GO:0000166)|protein homodimerization activity (GO:0042803)|RNA binding (GO:0003723)			breast(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(7)|ovary(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	33		Breast(86;0.0042)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)		Epithelial(121;3.74e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.3e-11)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000118)|Lung(119;0.0112)|LUSC - Lung squamous cell carcinoma(224;0.0266)		TGTTTTTGATGATTCGATAAT	0.403																																						ENST00000316997.4																			0				breast(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(7)|ovary(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						c.(1162-1164)Gat>Tat		RNA binding motif protein 44							48	49	49					2																	238726721		1866	4120	5986	SO:0001583	missense	375316						nucleotide binding|RNA binding	g.chr2:238726721G>T	AK097730	CCDS46554.1	2q37.3	2013-02-12			ENSG00000177483	ENSG00000177483		"RNA binding motif (RRM) containing"	24756	protein-coding gene	gene with protein product							Standard	NM_001080504		Approved	FLJ40411	uc002vxi.4	Q6ZP01	OTTHUMG00000152937	ENST00000409864.1:c.1162G>T	2.37:g.238726721G>T	ENSP00000386727:p.Asp388Tyr					RBM44_ENST00000444524.2_Intron|RBM44_ENST00000409864.1_Missense_Mutation_p.D388Y	p.D388Y	NM_001080504.2	NP_001073973.2	Q6ZP01	RBM44_HUMAN		Epithelial(121;3.74e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.3e-11)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000118)|Lung(119;0.0112)|LUSC - Lung squamous cell carcinoma(224;0.0266)	3	1294	+		Breast(86;0.0042)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)	387					A0AUW3	Missense_Mutation	SNP	ENST00000409864.1	37	c.1162G>T	CCDS46554.1	.	.	.	.	.	.	.	.	.	.	G	15.00	2.703457	0.48412	.	.	ENSG00000177483	ENST00000316997;ENST00000409864	T;T	0.21543	2.0;2.0	5.76	4.89	0.63831	.	0.553653	0.18502	N	0.139330	T	0.39145	0.1067	M	0.69823	2.125	0.25778	N	0.984768	D	0.71674	0.998	P	0.60173	0.87	T	0.29549	-1.0008	10	0.87932	D	0	-12.2542	9.0364	0.36291	0.167:0.0:0.833:0.0	.	387	Q6ZP01	RBM44_HUMAN	Y	388	ENSP00000321179:D388Y;ENSP00000386727:D388Y	ENSP00000321179:D388Y	D	+	1	0	RBM44	238391460	1.000000	0.71417	0.421000	0.26609	0.797000	0.45037	3.740000	0.55082	1.455000	0.47813	0.591000	0.81541	GAT		0.403	RBM44-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328733.2	NM_001080504		15	49	1	0	6.31663e-08	1	7.44151e-08	15	49					T	238726721	G	T	238726721	3	4	258	1	0	0	0	0	1	0	0	0	13138	1290	45	5	1168	5	RBM44	2	238726721	Missense_Mutation	SNP	G	TCGA-HI-7168-01A-11D-2114-08	138671540	238726721	4472652	6	12099											
CADPS	8618	broad.mit.edu	37	chr3	62648047	62648047	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gctctcgtctgatctgggctGcttgctcatctggattgtcc	3	15	11	12	1	5	1	1	1	4	0	7	2	6	2	1	2	2	4	1	2	0	2			TCGA-HI-7168-01A-11D-2114-08	TCGA-HI-7168-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1706aa-9a73-4b24-b51d-56d3764ea665	0c6efb93-b45f-4607-a8cf-c8b24859ad5d	g.chr3:62648047G>T	ENST00000383710.4	-	4	1260	c.911C>A	c.(910-912)gCa>gAa	p.A304E	CADPS_ENST00000283269.9_Missense_Mutation_p.A304E|CADPS_ENST00000357948.3_Missense_Mutation_p.A304E|CADPS_ENST00000490353.2_Missense_Mutation_p.A304E	NM_003716.3	NP_003707.2	Q9ULU8	CAPS1_HUMAN	Ca++-dependent secretion activator	304					catecholamine secretion (GO:0050432)|exocytosis (GO:0006887)|protein transport (GO:0015031)|synaptic vesicle priming (GO:0016082)|vesicle organization (GO:0016050)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|membrane (GO:0016020)|synapse (GO:0045202)	lipid binding (GO:0008289)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)			breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2)	92		Lung SC(41;0.0452)		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)		GATCTGGGCTGCTTGCTCATC	0.473																																						ENST00000383710.4																			0				breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2)	92						c.(910-912)gCa>gAa		Ca++-dependent secretion activator							156	127	137					3																	62648047		2203	4300	6503	SO:0001583	missense	8618				exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|cytosol|synapse	lipid binding|metal ion binding	g.chr3:62648047G>T	U36448	CCDS2898.1, CCDS2899.1, CCDS46858.1	3p21.1	2013-01-10	2008-08-28		ENSG00000163618	ENSG00000163618		"Pleckstrin homology (PH) domain containing"	1426	protein-coding gene	gene with protein product		604667				1516133	Standard	NM_183393		Approved	CAPS, KIAA1121, CAPS1	uc003dll.2	Q9ULU8	OTTHUMG00000158651	ENST00000383710.4:c.911C>A	3.37:g.62648047G>T	ENSP00000373215:p.Ala304Glu					CADPS_ENST00000490353.2_Missense_Mutation_p.A304E|CADPS_ENST00000283269.9_Missense_Mutation_p.A304E|CADPS_ENST00000357948.3_Missense_Mutation_p.A304E	p.A304E	NM_003716.3	NP_003707.2	Q9ULU8	CAPS1_HUMAN		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)	4	1260	-		Lung SC(41;0.0452)	304					A6NF60|Q13339|Q6GQQ6|Q8N2Z5|Q8N3M7|Q8NFR0|Q96BC2	Missense_Mutation	SNP	ENST00000383710.4	37	c.911C>A	CCDS46858.1	.	.	.	.	.	.	.	.	.	.	G	29.8	5.035228	0.93630	.	.	ENSG00000163618	ENST00000383709;ENST00000383710;ENST00000357948;ENST00000283269;ENST00000490353	D;D;D;D	0.85629	-2.01;-2.01;-2.01;-2.01	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	D	0.93051	0.7788	M	0.83483	2.645	0.80722	D	1	D;D;D	0.89917	1.0;0.996;0.999	D;D;D	0.97110	1.0;0.991;0.994	D	0.93708	0.7021	10	0.87932	D	0	.	18.2514	0.90005	0.0:0.0:1.0:0.0	.	304;304;304	Q9ULU8-2;Q9ULU8-3;Q9ULU8	.;.;CAPS1_HUMAN	E	304	ENSP00000373215:A304E;ENSP00000350632:A304E;ENSP00000283269:A304E;ENSP00000418736:A304E	ENSP00000283269:A304E	A	-	2	0	CADPS	62623087	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	8.977000	0.93446	2.606000	0.88127	0.655000	0.94253	GCA		0.473	CADPS-013	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351951.5	NM_003716, NM_183393, NM_183394		9	58	1	0	1.12685e-05	1	1.29212e-05	9	58					T	62648047	G	T	62648047	3	4	258	1	0	0	0	0	1	0	0	0	2570	1319	46	5	3331	5	CADPS	3	62648047	Missense_Mutation	SNP	G	TCGA-HI-7168-01A-11D-2114-08		62648047	135374383	7	12100											
EPHA3	2042	broad.mit.edu	37	chr3	89457246	89457246	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctataagtcaaaacatggggCagatgaaaaaagacttcatt	18	9	8	6	0	2	3	2	1	0	2	2	3	2	3	0	2	1	1	0	2	7	4			TCGA-HI-7168-01A-11D-2114-08	TCGA-HI-7168-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1706aa-9a73-4b24-b51d-56d3764ea665	0c6efb93-b45f-4607-a8cf-c8b24859ad5d	g.chr3:89457246C>A	ENST00000336596.2	+	9	1952	c.1727C>A	c.(1726-1728)gCa>gAa	p.A576E	EPHA3_ENST00000494014.1_Missense_Mutation_p.A576E	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN	EPH receptor A3	576					cell adhesion (GO:0007155)|cell migration (GO:0016477)|cellular response to retinoic acid (GO:0071300)|ephrin receptor signaling pathway (GO:0048013)|fasciculation of motor neuron axon (GO:0097156)|fasciculation of sensory neuron axon (GO:0097155)|positive regulation of neuron projection development (GO:0010976)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of epithelial to mesenchymal transition (GO:0010717)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule cytoskeleton organization (GO:0070507)|regulation of Rho GTPase activity (GO:0032319)	early endosome (GO:0005769)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|GPI-linked ephrin receptor activity (GO:0005004)			NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		AAACATGGGGCAGATGAAAAA	0.353										TSP Lung(6;0.00050)																												ENST00000336596.2																			0				NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139						c.(1726-1728)gCa>gAa		EPH receptor A3							224	219	220					3																	89457246		2203	4300	6503	SO:0001583	missense	2042					extracellular region|integral to plasma membrane	ATP binding	g.chr3:89457246C>A	M83941	CCDS2922.1, CCDS46875.1	3p11.2	2013-02-11	2004-10-28		ENSG00000044524	ENSG00000044524	2.7.10.1	"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3387	protein-coding gene	gene with protein product		179611	"EphA3"	ETK, ETK1, TYRO4		1737782, 1311845	Standard	NM_005233		Approved	HEK, HEK4	uc003dqy.3	P29320	OTTHUMG00000159040	ENST00000336596.2:c.1727C>A	3.37:g.89457246C>A	ENSP00000337451:p.Ala576Glu	TSP Lung(6;0.00050)				EPHA3_ENST00000494014.1_Missense_Mutation_p.A576E	p.A576E	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)	9	1952	+	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)	576					Q9H2V3|Q9H2V4	Missense_Mutation	SNP	ENST00000336596.2	37	c.1727C>A	CCDS2922.1	.	.	.	.	.	.	.	.	.	.	C	9.236	1.036947	0.19669	.	.	ENSG00000044524	ENST00000336596;ENST00000494014	T;T	0.09723	2.95;2.95	5.97	5.09	0.68999	.	0.382752	0.32041	N	0.006673	T	0.07638	0.0192	N	0.20685	0.6	0.09310	N	1	B	0.14805	0.011	B	0.11329	0.006	T	0.32587	-0.9901	9	.	.	.	.	12.46	0.55727	0.0:0.8641:0.0:0.1359	.	576	P29320	EPHA3_HUMAN	E	576	ENSP00000337451:A576E;ENSP00000419190:A576E	.	A	+	2	0	EPHA3	89539936	0.658000	0.27402	0.055000	0.19348	0.957000	0.61999	4.488000	0.60300	1.509000	0.48786	0.585000	0.79938	GCA		0.353	EPHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352995.1	NM_005233		21	131	1	0	4.35082e-09	1	5.27e-09	21	131					A	89457246	C	A	89457246	3	1	258	1	0	0	0	0	1	0	0	0	5168	710	25	5	1787	5	EPHA3	3	89457246	Missense_Mutation	SNP	C	TCGA-HI-7168-01A-11D-2114-08	26809199	89457246	108565184	8	12101											
CCKAR	886	broad.mit.edu	37	chr4	26491054	26491054	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	accagcgtgtttcccagcacGctgagcaggaatatcaagga	12	7	11	11	2	1	1	1	1	0	0	2	3	2	3	2	2	3	4	2	2	3	2	rs143718810		TCGA-HI-7168-01A-11D-2114-08	TCGA-HI-7168-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1706aa-9a73-4b24-b51d-56d3764ea665	0c6efb93-b45f-4607-a8cf-c8b24859ad5d	g.chr4:26491054G>A	ENST00000295589.3	-	2	359	c.165C>T	c.(163-165)agC>agT	p.S55S		NM_000730.2	NP_000721.1	P32238	CCKAR_HUMAN	cholecystokinin A receptor	55					axonogenesis (GO:0007409)|cholecystokinin signaling pathway (GO:0038188)|digestion (GO:0007586)|feeding behavior (GO:0007631)|forebrain development (GO:0030900)|neuron migration (GO:0001764)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|response to nutrient (GO:0007584)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cholecystokinin receptor activity (GO:0004951)			NS(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|pancreas(1)|skin(1)	29		Breast(46;0.0503)			Ceruletide(DB00403)	TTCCCAGCACGCTGAGCAGGA	0.567																																						ENST00000295589.3																			0				NS(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|pancreas(1)|skin(1)	29						c.(163-165)agC>agT		cholecystokinin A receptor	Ceruletide(DB00403)	G		1,4405	2.1+/-5.4	0,1,2202	119	112	114		165	0.3	1	4	dbSNP_134	114	0,8600		0,0,4300	no	coding-synonymous	CCKAR	NM_000730.2		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		55/429	26491054	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	886				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|elevation of cytosolic calcium ion concentration|response to nutrient	integral to plasma membrane	cholecystokinin receptor activity	g.chr4:26491054G>A	L19315	CCDS3438.1	4p15.2	2013-09-20			ENSG00000163394	ENSG00000163394		"GPCR / Class A : Cholecystokinin receptors"	1570	protein-coding gene	gene with protein product		118444					Standard	NM_000730		Approved		uc003gse.1	P32238	OTTHUMG00000128567	ENST00000295589.3:c.165C>T	4.37:g.26491054G>A							p.S55S	NM_000730.2	NP_000721.1	P32238	CCKAR_HUMAN			2	359	-		Breast(46;0.0503)	55					B2R9Z5	Silent	SNP	ENST00000295589.3	37	c.165C>T	CCDS3438.1																																																																																				0.567	CCKAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250418.2			30	77	0	0	0	1	0	30	77					A	26491054	G	A	26491054	2	1	258	1	0	0	0	0	0	0	0	1	2880	1078	38	1		1	CCKAR	4	26491054	Silent	SNP	G	TCGA-HI-7168-01A-11D-2114-08		26491054	164663222	9	12102											
PRDM8	56978	broad.mit.edu	37	chr4	81123531	81123531	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagctgagtcccgacggcatCgccacgggcggcggcaaagg	8	3	17	13	6	0	1	0	1	0	0	2	3	1	1	2	5	1	3	2	5	1	0			TCGA-HI-7168-01A-11D-2114-08	TCGA-HI-7168-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1706aa-9a73-4b24-b51d-56d3764ea665	0c6efb93-b45f-4607-a8cf-c8b24859ad5d	g.chr4:81123531C>A	ENST00000504452.1	+	8	1754	c.915C>A	c.(913-915)atC>atA	p.I305I	PRDM8_ENST00000339711.4_Silent_p.I305I|PRDM8_ENST00000415738.2_Silent_p.I305I			Q9NQV8	PRDM8_HUMAN	PR domain containing 8	305	Gly-rich.				corpus callosum morphogenesis (GO:0021540)|corticospinal tract morphogenesis (GO:0021957)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone methyltransferase activity (H3-K9 specific) (GO:0046974)|metal ion binding (GO:0046872)|transcription corepressor activity (GO:0003714)			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(2)	10						CCGACGGCATCGCCACGGGCG	0.746											OREG0016246	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000339711.4																			0				breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(2)	10						c.(913-915)atC>atA		PR domain containing 8							4	5	5					4																	81123531		1413	3268	4681	SO:0001819	synonymous_variant	56978				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr4:81123531C>A	AF275815	CCDS43243.1	4q21	2008-08-21				ENSG00000152784			13993	protein-coding gene	gene with protein product							Standard	NM_020226		Approved		uc003hmc.4	Q9NQV8		ENST00000504452.1:c.915C>A	4.37:g.81123531C>A			OREG0016246	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1203	PRDM8_ENST00000504452.1_Silent_p.I305I|PRDM8_ENST00000415738.2_Silent_p.I305I	p.I305I	NM_020226.3	NP_064611.3	Q9NQV8	PRDM8_HUMAN			10	2146	+			305			Gly-rich.		A8K7X2|Q6IQ36	Silent	SNP	ENST00000504452.1	37	c.915C>A	CCDS43243.1																																																																																				0.746	PRDM8-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362793.1			3	12	1	0	0.004672	1	0.0048999	3	12					A	81123531	C	A	81123531	2	1	258	1	0	0	0	0	0	0	0	1	12462	874	31	5		5	PRDM8	4	81123531	Silent	SNP	C	TCGA-HI-7168-01A-11D-2114-08	54632477	81123531	110030745	10	12103											
UBE2D3	7323	broad.mit.edu	37	chr4	103720584	103720584	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttatctctgtctgttttataGatccgtgcaatctctggcac	7	17	7	10	1	3	1	0	0	3	1	6	1	4	1	1	1	1	3	1	1	4	4			TCGA-HI-7168-01A-11D-2114-08	TCGA-HI-7168-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1706aa-9a73-4b24-b51d-56d3764ea665	0c6efb93-b45f-4607-a8cf-c8b24859ad5d	g.chr4:103720584G>T	ENST00000453744.2	-	7	891	c.378C>A	c.(376-378)atC>atA	p.I126I	UBE2D3_ENST00000504211.1_Silent_p.I97I|UBE2D3_ENST00000349311.8_Silent_p.I126I|UBE2D3_ENST00000505207.1_Silent_p.I97I|UBE2D3_ENST00000502404.1_Silent_p.I97I|UBE2D3_ENST00000507845.1_Silent_p.I97I|UBE2D3_ENST00000338145.3_Silent_p.I126I|UBE2D3_ENST00000394803.5_Silent_p.I126I|UBE2D3_ENST00000343106.5_Silent_p.I126I|UBE2D3_ENST00000357194.6_Silent_p.I128I|UBE2D3_ENST00000350435.7_Silent_p.I120I|UBE2D3_ENST00000394801.4_Silent_p.I126I|UBE2D3_ENST00000321805.7_Silent_p.I126I|UBE2D3_ENST00000394804.2_Silent_p.I126I	NM_181891.1	NP_871620.1	P61077	UB2D3_HUMAN	ubiquitin-conjugating enzyme E2D 3	126					apoptotic process (GO:0006915)|BMP signaling pathway (GO:0030509)|cellular protein modification process (GO:0006464)|cellular response to hypoxia (GO:0071456)|DNA repair (GO:0006281)|gene expression (GO:0010467)|innate immune response (GO:0045087)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of type I interferon production (GO:0032480)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K11-linked ubiquitination (GO:0070979)|protein K48-linked ubiquitination (GO:0070936)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)|ubiquitin-protein transferase activity (GO:0004842)			kidney(1)|lung(3)|skin(1)	5		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;2.13e-08)		CTGTTTTATAGATCCGTGCAA	0.358																																						ENST00000453744.2																			0				kidney(1)|lung(3)|skin(1)	5						c.(376-378)atC>atA		ubiquitin-conjugating enzyme E2D 3							61	62	61					4																	103720584		2203	4299	6502	SO:0001819	synonymous_variant	7323				apoptosis|BMP signaling pathway|DNA repair|negative regulation of type I interferon production|proteasomal ubiquitin-dependent protein catabolic process|protein K11-linked ubiquitination|protein K48-linked ubiquitination|protein monoubiquitination|transforming growth factor beta receptor signaling pathway	endosome membrane|plasma membrane	ATP binding|protein binding|ubiquitin-protein ligase activity	g.chr4:103720584G>T	U39318	CCDS3659.1, CCDS3660.1, CCDS3661.1, CCDS75172.1	4q24	2011-05-19	2011-05-19		ENSG00000109332	ENSG00000109332		"Ubiquitin-conjugating enzymes E2"	12476	protein-coding gene	gene with protein product		602963	"ubiquitin-conjugating enzyme E2D 3 (homologous to yeast UBC4/5)", "ubiquitin-conjugating enzyme E2D 3 (UBC4/5 homolog, yeast)"			8530467	Standard	NM_181886		Approved	UbcH5C	uc003hwl.3	P61077	OTTHUMG00000131119	ENST00000453744.2:c.378C>A	4.37:g.103720584G>T						UBE2D3_ENST00000502404.1_Silent_p.I97I|UBE2D3_ENST00000394801.4_Silent_p.I126I|UBE2D3_ENST00000507845.1_Silent_p.I97I|UBE2D3_ENST00000504211.1_Silent_p.I97I|UBE2D3_ENST00000349311.8_Silent_p.I126I|UBE2D3_ENST00000338145.3_Silent_p.I126I|UBE2D3_ENST00000350435.7_Silent_p.I120I|UBE2D3_ENST00000343106.5_Silent_p.I126I|UBE2D3_ENST00000321805.7_Silent_p.I126I|UBE2D3_ENST00000505207.1_Silent_p.I97I|UBE2D3_ENST00000394804.2_Silent_p.I126I|UBE2D3_ENST00000357194.6_Silent_p.I128I|UBE2D3_ENST00000394803.5_Silent_p.I126I	p.I126I	NM_181891.1	NP_871620.1	P61077	UB2D3_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;2.13e-08)	7	891	-		Hepatocellular(203;0.217)	126					A6NJ93|A6NJB1|A6NM99|P47986|Q6IB88|Q6NXS4|Q8N924	Silent	SNP	ENST00000453744.2	37	c.378C>A	CCDS3660.1																																																																																				0.358	UBE2D3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253791.2	NM_181893		9	37	1	0	0.00621372	1	0.00636166	9	37					T	103720584	G	T	103720584	2	4	258	1	0	0	0	0	0	0	0	1	16847	932	33	5		5	UBE2D3	4	103720584	Silent	SNP	G	TCGA-HI-7168-01A-11D-2114-08	22597053	103720584	87433692	11	12104											
CENPE	1062	broad.mit.edu	37	chr4	104030222	104030222	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttccttccaagttttgacCtcattggaaagatgctgatt	9	16	7	9	0	1	3	1	2	0	1	3	4	3	4	3	1	1	2	3	1	2	6			TCGA-HI-7168-01A-11D-2114-08	TCGA-HI-7168-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1706aa-9a73-4b24-b51d-56d3764ea665	0c6efb93-b45f-4607-a8cf-c8b24859ad5d	g.chr4:104030222C>A	ENST00000265148.3	-	48	7838	c.7749G>T	c.(7747-7749)gaG>gaT	p.E2583D	CENPE_ENST00000380026.3_Missense_Mutation_p.E2462D	NM_001813.2	NP_001804.2	Q02224	CENPE_HUMAN	centromere protein E, 312kDa	2583	Globular autoinhibitory domain. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|kinetochore assembly (GO:0051382)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic chromosome movement towards spindle pole (GO:0007079)|mitotic metaphase plate congression (GO:0007080)|multicellular organismal development (GO:0007275)|positive regulation of protein kinase activity (GO:0045860)|regulation of mitotic metaphase/anaphase transition (GO:0030071)	chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|condensed chromosome outer kinetochore (GO:0000940)|condensed chromosome, centromeric region (GO:0000779)|condensed nuclear chromosome kinetochore (GO:0000778)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|midbody (GO:0030496)|mitotic spindle midzone (GO:1990023)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|kinetochore binding (GO:0043515)|microtubule motor activity (GO:0003777)			NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3)	101				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)		AAGTTTTGACCTCATTGGAAA	0.353																																						ENST00000265148.3																			0				NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3)	101						c.(7747-7749)gaG>gaT		centromere protein E, 312kDa							77	76	77					4																	104030222		2203	4300	6503	SO:0001583	missense	1062				blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity	condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle	ATP binding|kinetochore binding|microtubule motor activity	g.chr4:104030222C>A	Z15005	CCDS34042.1, CCDS68768.1	4q24-q25	2013-11-05	2002-08-29			ENSG00000138778		"Kinesins", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	1856	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 61"	117143	"centromere protein E (312kD)"			7851898	Standard	NM_001286734		Approved	KIF10, PPP1R61	uc003hxb.1	Q02224		ENST00000265148.3:c.7749G>T	4.37:g.104030222C>A	ENSP00000265148:p.Glu2583Asp					CENPE_ENST00000380026.3_Missense_Mutation_p.E2462D	p.E2583D	NM_001813.2	NP_001804.2	Q02224	CENPE_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)	48	7838	-			2583			Globular autoinhibitory domain (By similarity).		A6NKY9|A8K2U7|Q4LE75	Missense_Mutation	SNP	ENST00000265148.3	37	c.7749G>T	CCDS34042.1	.	.	.	.	.	.	.	.	.	.	C	18.14	3.557457	0.65425	.	.	ENSG00000138778	ENST00000265148;ENST00000380026	T;T	0.71461	-0.57;-0.55	4.95	1.78	0.24846	.	.	.	.	.	T	0.77025	0.4070	L	0.56769	1.78	0.25008	N	0.991422	D;D	0.76494	0.999;0.996	D;P	0.80764	0.994;0.836	T	0.62402	-0.6862	9	0.51188	T	0.08	.	5.2179	0.15352	0.0:0.5687:0.0:0.4313	.	2462;2583	Q02224-3;Q02224	.;CENPE_HUMAN	D	2583;2462	ENSP00000265148:E2583D;ENSP00000369365:E2462D	ENSP00000265148:E2583D	E	-	3	2	CENPE	104249671	0.108000	0.22018	0.518000	0.27811	0.994000	0.84299	-0.136000	0.10405	0.507000	0.28148	0.655000	0.94253	GAG		0.353	CENPE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				4	65	1	0	0.014758	1	0.0149316	4	65					A	104030222	C	A	104030222	3	1	258	1	0	0	0	0	1	0	0	0	3230	680	24	5	364	5	CENPE	4	104030222	Missense_Mutation	SNP	C	TCGA-HI-7168-01A-11D-2114-08	309638	104030222	87124054	12	12105											
FLT4	2324	broad.mit.edu	37	chr5	180048621	180048621	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgcacacatagtggccctcGtgctcgggcgcgacgcgggg	5	6	16	14	7	0	0	0	0	0	0	3	1	0	0	1	4	1	2	1	4	1	1			TCGA-HI-7168-01A-11D-2114-08	TCGA-HI-7168-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1706aa-9a73-4b24-b51d-56d3764ea665	0c6efb93-b45f-4607-a8cf-c8b24859ad5d	g.chr5:180048621G>A	ENST00000261937.6	-	13	2019	c.1941C>T	c.(1939-1941)caC>caT	p.H647H	FLT4_ENST00000393347.3_Silent_p.H647H|FLT4_ENST00000424276.2_5'UTR|FLT4_ENST00000502649.1_Silent_p.H647H	NM_182925.4	NP_891555.2	P35916	VGFR3_HUMAN	fms-related tyrosine kinase 4	647	Ig-like C2-type 6.				blood vessel morphogenesis (GO:0048514)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|lymph vessel development (GO:0001945)|lymphangiogenesis (GO:0001946)|negative regulation of apoptotic process (GO:0043066)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of JNK cascade (GO:0046330)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of protein kinase C signaling (GO:0090037)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation vascular endothelial growth factor production (GO:0010575)|protein autophosphorylation (GO:0046777)|regulation of blood vessel remodeling (GO:0060312)|sprouting angiogenesis (GO:0002040)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor signaling pathway (GO:0038084)|vasculature development (GO:0001944)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|protein phosphatase binding (GO:0019903)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Axitinib(DB06626)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	AGTGGCCCTCGTGCTCGGGCG	0.687																																					Colon(97;1075 1466 27033 27547 35871)	ENST00000261937.6																			0				NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						c.(1939-1941)caC>caT		fms-related tyrosine kinase 4	Sorafenib(DB00398)|Sunitinib(DB01268)						29	27	28					5																	180048621		2203	4295	6498	SO:0001819	synonymous_variant	2324				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity	g.chr5:180048621G>A	X68203	CCDS4457.1, CCDS43412.1	5q34-q35	2013-01-29			ENSG00000037280	ENSG00000037280	2.7.10.1	"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	3767	protein-coding gene	gene with protein product		136352				1319394	Standard	NM_002020		Approved	VEGFR3, PCL	uc003mlz.4	P35916	OTTHUMG00000130931	ENST00000261937.6:c.1941C>T	5.37:g.180048621G>A						FLT4_ENST00000424276.2_5'UTR|FLT4_ENST00000393347.3_Silent_p.H647H|FLT4_ENST00000502649.1_Silent_p.H647H	p.H647H	NM_182925.4	NP_891555.2	P35916	VGFR3_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	13	2019	-	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	647			Ig-like C2-type 6.		A8K6L4|B5A926|Q16067|Q86W07|Q86W08	Silent	SNP	ENST00000261937.6	37	c.1941C>T	CCDS4457.1																																																																																				0.687	FLT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253527.4			13	26	0	0	0	1	0	13	26					A	180048621	G	A	180048621	2	1	258	1	0	0	0	0	0	0	0	1	5944	1136	40	1		1	FLT4	5	180048621	Silent	SNP	G	TCGA-HI-7168-01A-11D-2114-08		180048621	866639	13	12106											
TNXB	7148	broad.mit.edu	37	chr6	32036414	32036414	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gcatctgtcacggtcagctcCcccaggcgaggcttgatggg	6	8	14	13	2	3	1	2	1	1	0	4	2	4	1	2	4	1	3	2	4	0	1			TCGA-HI-7168-01A-11D-2114-08	TCGA-HI-7168-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1706aa-9a73-4b24-b51d-56d3764ea665	0c6efb93-b45f-4607-a8cf-c8b24859ad5d	g.chr6:32036414C>T	ENST00000375244.3	-	17	6174	c.5973G>A	c.(5971-5973)ggG>ggA	p.G1991G	TNXB_ENST00000375247.2_Silent_p.G1991G			P22105	TENX_HUMAN	tenascin XB	2073	Fibronectin type-III 12. {ECO:0000255|PROSITE-ProRule:PRU00316}.				actin cytoskeleton organization (GO:0030036)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|collagen fibril organization (GO:0030199)|collagen metabolic process (GO:0032963)|elastic fiber assembly (GO:0048251)|extracellular fibril organization (GO:0043206)|fatty acid metabolic process (GO:0006631)|regulation of JUN kinase activity (GO:0043506)|single organismal cell-cell adhesion (GO:0016337)|triglyceride metabolic process (GO:0006641)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						CGGTCAGCTCCCCCAGGCGAG	0.612																																						ENST00000375244.3																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						c.(5971-5973)ggG>ggA		tenascin XB							46	51	50					6																	32036414		1972	4143	6115	SO:0001819	synonymous_variant	7148				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding	g.chr6:32036414C>T	X71923	CCDS4736.1	6p21.3	2013-02-11			ENSG00000168477	ENSG00000168477		"Fibrinogen C domain containing", "Fibronectin type III domain containing"	11976	protein-coding gene	gene with protein product		600985		TNXB1, TNXB2		8530023	Standard	NM_019105		Approved	TNXBS, XBS, XB	uc021yvf.2	P22105	OTTHUMG00000031088	ENST00000375244.3:c.5973G>A	6.37:g.32036414C>T						TNXB_ENST00000375247.2_Silent_p.G1991G	p.G1991G			P22105	TENX_HUMAN			17	6174	-			2073			Fibronectin type-III 12.		P78530|P78531|Q08424|Q08AM0|Q08AM1|Q59GU7|Q5SQD3|Q5ST74|Q7L8Q4|Q8N4R1|Q9NPK9|Q9UC10|Q9UC11|Q9UC12|Q9UC13|Q9UMG7	Silent	SNP	ENST00000375244.3	37	c.5973G>A																																																																																					0.612	TNXB-001	PUTATIVE	not_organism_supported|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000268927.2	NM_019105		7	76	0	0	0	1	0	7	76					T	32036414	C	T	32036414	2	4	258	1	0	0	0	0	0	0	0	1	16343	610	22	3		3	TNXB	6	32036414	Silent	SNP	C	TCGA-HI-7168-01A-11D-2114-08		32036414	139078653	14	12107											
RUNX2	860	broad.mit.edu	37	chr6	45390466	45390466	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cagcagcagcagcagcagcaAcagcagcagcagcagcagga	15	0	13	13	0	0	0	0	0	0	0	0	1	0	1	0	1	12	11	0	1	1	0	rs575896136	byFrequency	TCGA-HI-7168-01A-11D-2114-08	TCGA-HI-7168-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1706aa-9a73-4b24-b51d-56d3764ea665	0c6efb93-b45f-4607-a8cf-c8b24859ad5d	g.chr6:45390466A>G	ENST00000371438.1	+	2	553	c.195A>G	c.(193-195)caA>caG	p.Q65Q	RP1-244F24.1_ENST00000606796.1_RNA|RUNX2_ENST00000465038.2_Silent_p.Q65Q|RUNX2_ENST00000352853.5_Silent_p.Q133Q|RUNX2_ENST00000359524.5_Silent_p.Q51Q|RUNX2_ENST00000576263.1_Silent_p.Q65Q|RUNX2_ENST00000371436.6_Silent_p.Q65Q|RUNX2_ENST00000541979.1_Silent_p.Q133Q|RUNX2_ENST00000371432.3_Silent_p.Q51Q	NM_001024630.3	NP_001019801.3	Q13950	RUNX2_HUMAN	runt-related transcription factor 2	65	Poly-Gln.				BMP signaling pathway (GO:0030509)|cell maturation (GO:0048469)|cellular response to BMP stimulus (GO:0071773)|chondrocyte development (GO:0002063)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic forelimb morphogenesis (GO:0035115)|endochondral ossification (GO:0001958)|gene expression (GO:0010467)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription, DNA-templated (GO:0045892)|odontogenesis of dentin-containing tooth (GO:0042475)|ossification (GO:0001503)|osteoblast development (GO:0002076)|osteoblast differentiation (GO:0001649)|osteoblast fate commitment (GO:0002051)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus (GO:1901522)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|regulation of odontogenesis of dentin-containing tooth (GO:0042487)|stem cell differentiation (GO:0048863)|T cell differentiation (GO:0030217)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						agcagcagcaacagcagcagc	0.731													A|||	8	0.00159744	0.0023	0	5008	,	,		7675	0.002		0	False		,,,				2504	0.0031					ENST00000371438.1																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						c.(193-195)caA>caG		runt-related transcription factor 2							10	15	14					6																	45390466		1452	3071	4523	SO:0001819	synonymous_variant	860				negative regulation of transcription, DNA-dependent|osteoblast differentiation|positive regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr6:45390466A>G	AF001450	CCDS43467.1, CCDS43468.1, CCDS43467.2, CCDS43468.2	6p21	2010-08-20			ENSG00000124813	ENSG00000124813			10472	protein-coding gene	gene with protein product		600211		CCD, CBFA1, CCD1		7835892	Standard	NM_001024630		Approved	AML3, PEBP2A1, PEBP2aA1	uc011dvx.2	Q13950	OTTHUMG00000014774	ENST00000371438.1:c.195A>G	6.37:g.45390466A>G						RUNX2_ENST00000576263.1_Silent_p.Q65Q|RUNX2_ENST00000371432.3_Silent_p.Q51Q|RUNX2_ENST00000352853.5_Silent_p.Q133Q|RUNX2_ENST00000465038.2_Silent_p.Q65Q|RUNX2_ENST00000359524.5_Silent_p.Q51Q|RUNX2_ENST00000371436.6_Silent_p.Q65Q|RUNX2_ENST00000541979.1_Silent_p.Q133Q	p.Q65Q	NM_001024630.3	NP_001019801.3	Q13950	RUNX2_HUMAN			2	553	+			65			Poly-Gln.		O14614|O14615|O95181	Silent	SNP	ENST00000371438.1	37	c.195A>G	CCDS43467.2																																																																																				0.731	RUNX2-003	KNOWN	not_organism_supported|upstream_ATG|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040755.2	NM_004348		3	38	0	0	0	1	0	3	38					G	45390466	A	G	45390466	2	3	258	1	0	0	0	0	0	0	0	1	13748	40	2	4		4	RUNX2	6	45390466	Silent	SNP	A	TCGA-HI-7168-01A-11D-2114-08	13354052	45390466	125724601	15	12108											
MOXD1	26002	broad.mit.edu	37	chr6	132722436	132722436	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaaggcgatctggctgccccGctggctccagcccagccagt	6	6	13	16	2	1	0	0	0	1	0	2	2	2	0	5	3	3	3	5	3	1	0	rs371584683		TCGA-HI-7168-01A-11D-2114-08	TCGA-HI-7168-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1706aa-9a73-4b24-b51d-56d3764ea665	0c6efb93-b45f-4607-a8cf-c8b24859ad5d	g.chr6:132722436G>A	ENST00000367963.3	-	1	248	c.130C>T	c.(130-132)Cgg>Tgg	p.R44W	MOXD1_ENST00000392401.3_Missense_Mutation_p.R44W	NM_015529.2	NP_056344.2	Q6UVY6	MOXD1_HUMAN	monooxygenase, DBH-like 1	44	DOMON. {ECO:0000255|PROSITE- ProRule:PRU00246}.					endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	copper ion binding (GO:0005507)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced ascorbate as one donor, and incorporation of one atom of oxygen (GO:0016715)			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(3)|skin(1)	37	Breast(56;0.0495)			OV - Ovarian serous cystadenocarcinoma(155;0.0132)|GBM - Glioblastoma multiforme(226;0.0191)		TGGCTGCCCCGCTGGCTCCAG	0.731																																						ENST00000367963.3																			0				breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(3)|skin(1)	37						c.(130-132)Cgg>Tgg		monooxygenase, DBH-like 1		G	TRP/ARG	1,4085		0,1,2042	11	10	10		130	0	0.9	6		10	0,8088		0,0,4044	no	missense	MOXD1	NM_015529.2	101	0,1,6086	AA,AG,GG		0.0,0.0245,0.0082	possibly-damaging	44/614	132722436	1,12173	2043	4044	6087	SO:0001583	missense	26002				catecholamine metabolic process	endoplasmic reticulum membrane|integral to membrane	copper ion binding|dopamine beta-monooxygenase activity	g.chr6:132722436G>A	AY007239	CCDS5152.2	6q23.2	2010-09-24			ENSG00000079931	ENSG00000079931			21063	protein-coding gene	gene with protein product		609000				9751809	Standard	XM_006715456		Approved	DKFZP564G202, MOX, dJ248E1.1	uc003qdf.3	Q6UVY6	OTTHUMG00000055853	ENST00000367963.3:c.130C>T	6.37:g.132722436G>A	ENSP00000356940:p.Arg44Trp					MOXD1_ENST00000392401.3_Missense_Mutation_p.R44W	p.R44W	NM_015529.2	NP_056344.2	Q6UVY6	MOXD1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.0132)|GBM - Glioblastoma multiforme(226;0.0191)	1	248	-	Breast(56;0.0495)		44			DOMON.		Q5THU6|Q8NC97|Q8WV49|Q9H4M6|Q9Y4U3	Missense_Mutation	SNP	ENST00000367963.3	37	c.130C>T	CCDS5152.2	.	.	.	.	.	.	.	.	.	.	G	13.92	2.381973	0.42207	2.45E-4	0.0	ENSG00000079931	ENST00000367963;ENST00000392401	T;T	0.77229	-1.08;-1.08	4.24	0.0084	0.14074	DOMON domain (3);	0.489617	0.19770	N	0.106461	T	0.69637	0.3133	L	0.59436	1.845	0.28108	N	0.931126	D	0.58620	0.983	P	0.53185	0.72	T	0.67031	-0.5773	10	0.87932	D	0	-32.154	11.5367	0.50641	0.0:0.2084:0.5763:0.2153	.	44	Q6UVY6	MOXD1_HUMAN	W	44	ENSP00000356940:R44W;ENSP00000376202:R44W	ENSP00000356940:R44W	R	-	1	2	MOXD1	132764129	0.096000	0.21769	0.949000	0.38748	0.355000	0.29361	1.107000	0.31110	0.045000	0.15804	-3.098000	0.00064	CGG		0.731	MOXD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000125837.1	NM_015529		3	15	0	0	0	1	0	3	15					A	132722436	G	A	132722436	3	1	258	1	0	0	0	0	1	0	0	0	9720	1086	38	1	1759	1	MOXD1	6	132722436	Missense_Mutation	SNP	G	TCGA-HI-7168-01A-11D-2114-08	87331970	132722436	38392631	16	12109											
ARID1B	57492	broad.mit.edu	37	chr6	157150545	157150545	+	Missense_Mutation	SNP	C	C	T																															catggccggaatgcagtaccCtcagcagcaggtttgtgctg																										TCGA-HI-7168-01A-11D-2114-08	TCGA-HI-7168-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1706aa-9a73-4b24-b51d-56d3764ea665	0c6efb93-b45f-4607-a8cf-c8b24859ad5d	g.chr6:157150545C>T	ENST00000350026.5	+	2	1728	c.1727C>T	c.(1726-1728)cCt>cTt	p.P576L	ARID1B_ENST00000346085.5_Missense_Mutation_p.P576L|ARID1B_ENST00000275248.4_Missense_Mutation_p.P518L|ARID1B_ENST00000367148.1_Missense_Mutation_p.P576L	NM_017519.2	NP_059989.2	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	576	Gln-rich.				chromatin-mediated maintenance of transcription (GO:0048096)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)			NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		ATGCAGTACCCTCAGCAGCAG	0.542																																						ENST00000346085.5																			0				NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81						c.(1726-1728)cCt>cTt		AT rich interactive domain 1B (SWI1-like)							39	37	38					6																	157150545		2203	4300	6503	SO:0001583	missense	57492				chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity	g.chr6:157150545C>T	AF521671	CCDS5251.1, CCDS5251.2, CCDS55072.1	6q25.3	2014-09-17			ENSG00000049618	ENSG00000049618		"-"	18040	protein-coding gene	gene with protein product		614556					Standard	NM_017519		Approved	KIAA1235, ELD/OSA1, p250R, BAF250b, DAN15, 6A3-5	uc003qqo.3	Q8NFD5	OTTHUMG00000015890	ENST00000350026.5:c.1727C>T	6.37:g.157150545C>T	ENSP00000055163:p.Pro576Leu					ARID1B_ENST00000350026.5_Missense_Mutation_p.P576L|ARID1B_ENST00000275248.4_Missense_Mutation_p.P518L|ARID1B_ENST00000367148.1_Missense_Mutation_p.P576L	p.P576L	NM_020732.3	NP_065783.3	Q8NFD5	ARI1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)	2	1728	+		Breast(66;0.000162)|Ovarian(120;0.0265)	576			Gln-rich.		Q5JRD1|Q5VYC4|Q8IZY8|Q8TEV0|Q8TF02|Q99491|Q9ULI5	Missense_Mutation	SNP	ENST00000350026.5	37	c.1727C>T	CCDS5251.2	.	.	.	.	.	.	.	.	.	.	C	14.97	2.695411	0.48202	.	.	ENSG00000049618	ENST00000346085;ENST00000350026;ENST00000367148;ENST00000275248;ENST00000414678	T;T;T;T;T	0.02552	4.44;4.65;4.6;4.55;4.25	5.09	5.09	0.68999	.	0.087594	0.45867	D	0.000328	T	0.02767	0.0083	N	0.14661	0.345	0.53005	D	0.999969	D;D;D	0.56287	0.958;0.975;0.975	P;P;P	0.53861	0.549;0.736;0.736	T	0.62534	-0.6834	10	0.87932	D	0	.	18.8734	0.92325	0.0:1.0:0.0:0.0	.	576;576;518	Q8NFD5;Q8NFD5-2;G3XAA0	ARI1B_HUMAN;.;.	L	576;576;576;518;75	ENSP00000344546:P576L;ENSP00000055163:P576L;ENSP00000356116:P576L;ENSP00000275248:P518L;ENSP00000412835:P75L	ENSP00000275248:P518L	P	+	2	0	ARID1B	157192237	0.999000	0.42202	0.983000	0.44433	0.970000	0.65996	4.280000	0.58959	2.515000	0.84797	0.650000	0.86243	CCT		0.542	ARID1B-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000372723.1	NM_020732		4	45	0	0	0	1	0	4	45					T	157150545	C	T	157150545	3	4	258	1	0	0	0	0	1	0	0	0	914	681	24	3	1733	3	ARID1B	6	157150545	Missense_Mutation	SNP	C	TCGA-HI-7168-01A-11D-2114-08	24428109	157150545	13964522	17	12110	63	2									
ARID1B	57492	broad.mit.edu	37	chr6	157150550	157150550	+	Nonsense_Mutation	SNP	C	C	T																															ccggaatgcagtaccctcagCagcaggtttgtgctggtccc																										TCGA-HI-7168-01A-11D-2114-08	TCGA-HI-7168-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1706aa-9a73-4b24-b51d-56d3764ea665	0c6efb93-b45f-4607-a8cf-c8b24859ad5d	g.chr6:157150550C>T	ENST00000350026.5	+	2	1733	c.1732C>T	c.(1732-1734)Cag>Tag	p.Q578*	ARID1B_ENST00000346085.5_Nonsense_Mutation_p.Q578*|ARID1B_ENST00000275248.4_Nonsense_Mutation_p.Q520*|ARID1B_ENST00000367148.1_Nonsense_Mutation_p.Q578*	NM_017519.2	NP_059989.2	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	578	Gln-rich.				chromatin-mediated maintenance of transcription (GO:0048096)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)			NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		GTACCCTCAGCAGCAGGTTTG	0.547																																						ENST00000346085.5																			0				NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81						c.(1732-1734)Cag>Tag		AT rich interactive domain 1B (SWI1-like)							36	35	35					6																	157150550		2203	4300	6503	SO:0001587	stop_gained	57492				chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity	g.chr6:157150550C>T	AF521671	CCDS5251.1, CCDS5251.2, CCDS55072.1	6q25.3	2014-09-17			ENSG00000049618	ENSG00000049618		"-"	18040	protein-coding gene	gene with protein product		614556					Standard	NM_017519		Approved	KIAA1235, ELD/OSA1, p250R, BAF250b, DAN15, 6A3-5	uc003qqo.3	Q8NFD5	OTTHUMG00000015890	ENST00000350026.5:c.1732C>T	6.37:g.157150550C>T	ENSP00000055163:p.Gln578*					ARID1B_ENST00000350026.5_Nonsense_Mutation_p.Q578*|ARID1B_ENST00000275248.4_Nonsense_Mutation_p.Q520*|ARID1B_ENST00000367148.1_Nonsense_Mutation_p.Q578*	p.Q578*	NM_020732.3	NP_065783.3	Q8NFD5	ARI1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)	2	1733	+		Breast(66;0.000162)|Ovarian(120;0.0265)	578			Gln-rich.		Q5JRD1|Q5VYC4|Q8IZY8|Q8TEV0|Q8TF02|Q99491|Q9ULI5	Nonsense_Mutation	SNP	ENST00000350026.5	37	c.1732C>T	CCDS5251.2	.	.	.	.	.	.	.	.	.	.	C	41	9.124844	0.99073	.	.	ENSG00000049618	ENST00000346085;ENST00000350026;ENST00000367148;ENST00000275248;ENST00000414678	.	.	.	5.09	5.09	0.68999	.	0.000000	0.64402	D	0.000008	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	.	18.8734	0.92325	0.0:1.0:0.0:0.0	.	.	.	.	X	578;578;578;520;77	.	ENSP00000275248:Q520X	Q	+	1	0	ARID1B	157192242	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	5.602000	0.67612	2.515000	0.84797	0.650000	0.86243	CAG		0.547	ARID1B-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000372723.1	NM_020732		4	45	0	0	0	1	0	4	45					T	157150550	C	T	157150550	4	4	258	1	0	0	0	0	0	1	0	0	914	711	25	3	1738	3	ARID1B	6	157150550	Nonsense_Mutation	SNP	C	TCGA-HI-7168-01A-11D-2114-08	5	157150550	13964517	18	12111	63	2									
SNX13	23161	broad.mit.edu	37	chr7	17933026	17933026	+	Frame_Shift_Del	DEL	T	T	-																															taggtacttctctgagtttgTttttccaaacaggagagtaa																										TCGA-HI-7168-01A-11D-2114-08	TCGA-HI-7168-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1706aa-9a73-4b24-b51d-56d3764ea665	0c6efb93-b45f-4607-a8cf-c8b24859ad5d	g.chr7:17933026delT	ENST00000409389.1	-	3	329	c.157delA	c.(157-159)acafs	p.T53fs	SNX13_ENST00000428135.3_Frame_Shift_Del_p.T53fs|SNX13_ENST00000409604.1_Frame_Shift_Del_p.T53fs			Q9Y5W8	SNX13_HUMAN	sorting nexin 13	53					intracellular protein transport (GO:0006886)|positive regulation of GTPase activity (GO:0043547)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	early endosome (GO:0005769)|membrane (GO:0016020)	phosphatidylinositol binding (GO:0035091)			breast(1)|central_nervous_system(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(13)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38	Lung NSC(10;0.0261)|all_lung(11;0.0521)					TCTGAGTTTGTTTTTCCAAAC	0.338																																						ENST00000409389.1																			0				breast(1)|central_nervous_system(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(13)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38						c.(157-159)cafs		sorting nexin 13							42	37	38					7																	17933026		1814	4065	5879	SO:0001589	frameshift_variant	23161				cell communication|intracellular protein transport|negative regulation of signal transduction|positive regulation of GTPase activity	early endosome membrane	phosphatidylinositol binding|signal transducer activity	g.chr7:17933026delT	AF420470	CCDS47551.1	7p21.1	2008-03-11			ENSG00000071189	ENSG00000071189		"Sorting nexins"	21335	protein-coding gene	gene with protein product		606589				11485546, 11729322	Standard	NM_015132		Approved	RGS-PX1, KIAA0713	uc003stv.3	Q9Y5W8	OTTHUMG00000152730	ENST00000409389.1:c.157delA	7.37:g.17933026delT	ENSP00000386705:p.Thr53fs					SNX13_ENST00000428135.3_Frame_Shift_Del_p.T53fs|SNX13_ENST00000409604.1_Frame_Shift_Del_p.T53fs	p.T53fs			Q9Y5W8	SNX13_HUMAN			3	329	-	Lung NSC(10;0.0261)|all_lung(11;0.0521)		53					B2RCI9|O94821|Q8WVZ2|Q8WXH8	Frame_Shift_Del	DEL	ENST00000409389.1	37	c.157delA																																																																																					0.338	SNX13-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000327608.1	NM_015132		2	4						2	4	---	---	---	---	-	17933026	T	-	17933026	7	5	258	1	0	1	0	1	0	0	0	0	14884	1725	60	0	2812	0	SNX13	7	17933026	Frame_Shift_Del	DEL	T	TCGA-HI-7168-01A-11D-2114-08		17933026	141205637	19	12112											
FAM126A	84668	broad.mit.edu	37	chr7	22985646	22985646	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cgtctgtggttctttcctatActtggcttgttactacaatt	6	19	7	9	1	2	0	0	0	2	0	3	0	3	0	1	2	3	3	1	2	5	9			TCGA-HI-7168-01A-11D-2114-08	TCGA-HI-7168-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1706aa-9a73-4b24-b51d-56d3764ea665	0c6efb93-b45f-4607-a8cf-c8b24859ad5d	g.chr7:22985646A>G	ENST00000432176.2	-	11	1360	c.1128T>C	c.(1126-1128)agT>agC	p.S376S	FAM126A_ENST00000409923.1_3'UTR|FAM126A_ENST00000498833.1_5'UTR	NM_032581.3	NP_115970.2	Q9BYI3	HYCCI_HUMAN	family with sequence similarity 126, member A	376					signal transduction (GO:0007165)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	signal transducer activity (GO:0004871)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(8)|urinary_tract(2)	23						TCTTTCCTATACTTGGCTTGT	0.423																																						ENST00000432176.2																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(8)|urinary_tract(2)	23						c.(1126-1128)agT>agC		family with sequence similarity 126, member A							128	136	133					7																	22985646		2203	4300	6503	SO:0001819	synonymous_variant	84668					cytoplasm|membrane	signal transducer activity	g.chr7:22985646A>G	BC018710	CCDS5377.1	7p15.3	2008-10-02			ENSG00000122591	ENSG00000122591			24587	protein-coding gene	gene with protein product	"down regulated by Ctnnb1, a"	610531				10910037, 16951682	Standard	NM_032581		Approved	DRCTNNB1A, HCC, HYCC1, hyccin	uc003svm.4	Q9BYI3	OTTHUMG00000128435	ENST00000432176.2:c.1128T>C	7.37:g.22985646A>G						FAM126A_ENST00000498833.1_5'UTR|FAM126A_ENST00000409923.1_3'UTR	p.S376S	NM_032581.3	NP_115970.2	Q9BYI3	HYCCI_HUMAN			11	1360	-			376					A4D145|Q6N010|Q75MR4|Q7LDZ4|Q96MX1|Q96NQ6	Silent	SNP	ENST00000432176.2	37	c.1128T>C	CCDS5377.1																																																																																				0.423	FAM126A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250230.1	NM_032581		67	139	0	0	0	1	0	67	139					G	22985646	A	G	22985646	2	3	258	1	0	0	0	0	0	0	0	1	5429	388	14	4		4	FAM126A	7	22985646	Silent	SNP	A	TCGA-HI-7168-01A-11D-2114-08	5052620	22985646	136153017	20	12113											
GTPBP10	85865	broad.mit.edu	37	chr7	90014223	90014224	+	Frame_Shift_Ins	INS	-	-	A																															agattttctgcatttatttgINSaaaaaaacatgattccagag																										TCGA-HI-7168-01A-11D-2114-08	TCGA-HI-7168-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1706aa-9a73-4b24-b51d-56d3764ea665	0c6efb93-b45f-4607-a8cf-c8b24859ad5d	g.chr7:90014223_90014224insA	ENST00000222511.6	+	10	985_986	c.919_920insA	c.(919-921)gaafs	p.E307fs	GTPBP10_ENST00000257659.8_Frame_Shift_Ins_p.E228fs	NM_033107.3	NP_149098.2	A4D1E9	GTPBA_HUMAN	GTP-binding protein 10 (putative)	307	OBG-type G. {ECO:0000255|PROSITE- ProRule:PRU01047}.				ribosome biogenesis (GO:0042254)	chromosome (GO:0005694)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|magnesium ion binding (GO:0000287)|poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(2)|large_intestine(3)|lung(4)	10						GCATTTATTTGAAAAAAACATG	0.327																																						ENST00000222511.6																			0				endometrium(1)|kidney(2)|large_intestine(3)|lung(4)	10						c.(919-921)aaafs		GTP-binding protein 10 (putative)																																				SO:0001589	frameshift_variant	85865				ribosome biogenesis	chromosome|nucleolus	GTP binding|GTPase activity|magnesium ion binding	g.chr7:90014223_90014224insA		CCDS5617.1, CCDS43614.1	7q21.13	2006-08-15			ENSG00000105793	ENSG00000105793			25106	protein-coding gene	gene with protein product		610920				12477932	Standard	NM_001042717		Approved	DKFZP686A10121, FLJ38242	uc003ukm.2	A4D1E9	OTTHUMG00000023655	ENST00000222511.6:c.926dupA	7.37:g.90014230_90014230dupA	ENSP00000222511:p.Glu307fs					GTPBP10_ENST00000257659.8_Frame_Shift_Ins_p.K228fs	p.K307fs	NM_033107.3	NP_149098.2	A4D1E9	GTPBA_HUMAN			10	985_986	+			307					B4DFY6|Q3B7A6|Q5H9V2|Q8IXG8|Q8N982|Q8WU16|Q9BSP1|Q9Y6T6	Frame_Shift_Ins	INS	ENST00000222511.6	37	c.919_920insA	CCDS5617.1																																																																																				0.327	GTPBP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059976.3	NM_033107		27	80						27	80	---	---	---	---	A	90014224	-	A	90014223	7	5	258	1	0	1	1	0	0	0	0	0	6879	1291	45	0	957	0	GTPBP10	7	90014223	Frame_Shift_Ins	INS	-	TCGA-HI-7168-01A-11D-2114-08	67028577	90014223	69124440	21	12114											
DGKI	9162	broad.mit.edu	37	chr7	137294314	137294314	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttactggcttttcttttaaaGcttgttctcttcttcttccg	4	22	5	10	1	4	0	0	0	4	0	6	0	5	0	1	1	2	3	1	1	3	10			TCGA-HI-7168-01A-11D-2114-08	TCGA-HI-7168-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1706aa-9a73-4b24-b51d-56d3764ea665	0c6efb93-b45f-4607-a8cf-c8b24859ad5d	g.chr7:137294314G>T	ENST00000288490.5	-	9	1035	c.1035C>A	c.(1033-1035)agC>agA	p.S345R	DGKI_ENST00000446122.1_Missense_Mutation_p.S345R|DGKI_ENST00000424189.2_Missense_Mutation_p.S345R|DGKI_ENST00000453654.2_Missense_Mutation_p.S45R	NM_004717.2	NP_004708.1	O75912	DGKI_HUMAN	diacylglycerol kinase, iota	345					blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|positive regulation of Ras protein signal transduction (GO:0046579)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of Rap GTPase activity (GO:0032317)	cytoplasm (GO:0005737)|guanyl-nucleotide exchange factor complex (GO:0032045)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|GTPase inhibitor activity (GO:0005095)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(46)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	84						TTCTTTTAAAGCTTGTTCTCT	0.438																																						ENST00000453654.1																			0				breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(46)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	84						c.(133-135)agC>agA		diacylglycerol kinase, iota							163	136	145					7																	137294314		2203	4300	6503	SO:0001583	missense	9162				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding	g.chr7:137294314G>T	AF061936	CCDS5845.1	7q32.3-q33	2013-01-10			ENSG00000157680	ENSG00000157680		"Ankyrin repeat domain containing"	2855	protein-coding gene	gene with protein product		604072				9830018	Standard	NM_004717		Approved	DGK-IOTA	uc003vtt.3	O75912	OTTHUMG00000155697	ENST00000288490.5:c.1035C>A	7.37:g.137294314G>T	ENSP00000288490:p.Ser345Arg					DGKI_ENST00000424189.2_Missense_Mutation_p.S345R|DGKI_ENST00000288490.5_Missense_Mutation_p.S345R|DGKI_ENST00000446122.1_Missense_Mutation_p.S345R	p.S45R			O75912	DGKI_HUMAN			9	674	-			345					A4D1Q9|Q9NZ49	Missense_Mutation	SNP	ENST00000288490.5	37	c.135C>A	CCDS5845.1	.	.	.	.	.	.	.	.	.	.	G	14.84	2.654422	0.47467	.	.	ENSG00000157680	ENST00000453654;ENST00000540376;ENST00000424189;ENST00000288490;ENST00000446122	T;T;T	0.38077	1.78;1.16;1.36	5.61	0.913	0.19354	.	0.196432	0.53938	D	0.000051	T	0.52869	0.1761	M	0.76838	2.35	0.50467	D	0.999875	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.987	T	0.46048	-0.9219	10	0.40728	T	0.16	.	6.5356	0.22352	0.448:0.0:0.438:0.1139	.	45;345	E9PFX6;O75912	.;DGKI_HUMAN	R	45;293;345;345;345	ENSP00000392161:S45R;ENSP00000288490:S345R;ENSP00000399131:S345R	ENSP00000288490:S345R	S	-	3	2	DGKI	136944854	0.998000	0.40836	1.000000	0.80357	0.984000	0.73092	0.330000	0.19715	0.115000	0.18071	-0.794000	0.03295	AGC		0.438	DGKI-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341286.3	NM_004717		8	42	1	0	2.17888e-05	1	2.46557e-05	8	42					T	137294314	G	T	137294314	3	4	258	1	0	0	0	0	1	0	0	0	4471	962	34	5	2266	5	DGKI	7	137294314	Missense_Mutation	SNP	G	TCGA-HI-7168-01A-11D-2114-08	47280091	137294314	21844349	22	12115											
GALNTL5	168391	broad.mit.edu	37	chr7	151684285	151684285	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	actatcacctggaaacttttCggggaaaggttaaaataata	16	11	8	6	1	1	0	1	0	0	0	2	2	1	2	1	4	1	1	1	4	7	6	rs368842809		TCGA-HI-7168-01A-11D-2114-08	TCGA-HI-7168-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1706aa-9a73-4b24-b51d-56d3764ea665	0c6efb93-b45f-4607-a8cf-c8b24859ad5d	g.chr7:151684285C>T	ENST00000392800.2	+	5	831	c.577C>T	c.(577-579)Cgg>Tgg	p.R193W	GALNTL5_ENST00000431418.2_Missense_Mutation_p.R193W	NM_145292.3	NP_660335.2	Q7Z4T8	GLTL5_HUMAN	polypeptide N-acetylgalactosaminyltransferase-like 5	193	Catalytic subdomain A.				spermatid development (GO:0007286)	endosome (GO:0005768)|integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)			NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(11)|ovary(2)|prostate(2)|skin(3)	32	all_neural(206;0.187)	all_hematologic(28;0.0749)	OV - Ovarian serous cystadenocarcinoma(82;0.00427)	UCEC - Uterine corpus endometrioid carcinoma (81;0.18)|BRCA - Breast invasive adenocarcinoma(188;0.166)		GGAAACTTTTCGGGGAAAGGT	0.378																																						ENST00000392800.2																			0				NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(11)|ovary(2)|prostate(2)|skin(3)	32						c.(577-579)Cgg>Tgg		UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 5		C	TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	48	52	51		577	4.3	0	7		51	1,8599	1.2+/-3.3	0,1,4299	no	missense	GALNTL5	NM_145292.3	101	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	probably-damaging	193/444	151684285	2,13004	2203	4300	6503	SO:0001583	missense	168391					Golgi membrane|integral to membrane	transferase activity, transferring glycosyl groups	g.chr7:151684285C>T	AF440400	CCDS5929.1	7q36.2	2014-03-13	2014-03-13	2004-07-28	ENSG00000106648	ENSG00000106648		"Glycosyltransferase family 2 domain containing"	21725	protein-coding gene	gene with protein product	"polypeptide GalNAc transferase-like 5"	615133	"UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 15", "UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 5"	GALNT15			Standard	NM_145292		Approved	GalNAc-T5L	uc003wkp.3	Q7Z4T8	OTTHUMG00000157306	ENST00000392800.2:c.577C>T	7.37:g.151684285C>T	ENSP00000376548:p.Arg193Trp					GALNTL5_ENST00000431418.2_Missense_Mutation_p.R193W	p.R193W	NM_145292.3	NP_660335.2	Q7Z4T8	GLTL5_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00427)	UCEC - Uterine corpus endometrioid carcinoma (81;0.18)|BRCA - Breast invasive adenocarcinoma(188;0.166)	5	831	+	all_neural(206;0.187)	all_hematologic(28;0.0749)	193			Catalytic subdomain A.		Q75KN2|Q75MD3|Q8NCV4|Q8WW05|Q9UDR9	Missense_Mutation	SNP	ENST00000392800.2	37	c.577C>T	CCDS5929.1	.	.	.	.	.	.	.	.	.	.	c	15.53	2.859855	0.51482	2.27E-4	1.16E-4	ENSG00000106648	ENST00000431418;ENST00000392800	T;T	0.59502	0.26;0.26	4.3	4.3	0.51218	Glycosyl transferase, family 2 (1);	0.000000	0.37577	N	0.002029	T	0.73210	0.3558	M	0.70275	2.135	0.09310	N	0.999999	D	0.89917	1.0	D	0.71870	0.975	T	0.65990	-0.6034	10	0.66056	D	0.02	.	14.676	0.68981	0.0:1.0:0.0:0.0	.	193	Q7Z4T8	GLTL5_HUMAN	W	193	ENSP00000392582:R193W;ENSP00000376548:R193W	ENSP00000376548:R193W	R	+	1	2	GALNTL5	151315218	1.000000	0.71417	0.029000	0.17559	0.637000	0.38172	2.759000	0.47573	2.388000	0.81334	0.556000	0.70494	CGG		0.378	GALNTL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348395.1	NM_145292		15	49	0	0	0	1	0	15	49					T	151684285	C	T	151684285	3	4	258	1	0	0	0	0	1	0	0	0	6224	875	31	2	591	2	GALNTL5	7	151684285	Missense_Mutation	SNP	C	TCGA-HI-7168-01A-11D-2114-08	14389971	151684285	7454378	23	12116											
LINGO2	158038	broad.mit.edu	37	chr9	27949700	27949700	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgagacacattgagcacgcGtaggaagcggagcccttgga	11	6	14	10	3	0	2	0	2	0	1	0	6	0	5	1	3	3	2	1	3	2	3	rs202210200		TCGA-HI-7168-01A-11D-2114-08	TCGA-HI-7168-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1706aa-9a73-4b24-b51d-56d3764ea665	0c6efb93-b45f-4607-a8cf-c8b24859ad5d	g.chr9:27949700G>A	ENST00000379992.2	-	6	1419	c.970C>T	c.(970-972)Cgc>Tgc	p.R324C	LINGO2_ENST00000308675.3_Missense_Mutation_p.R324C	NM_152570.2	NP_689783.1	Q7L985	LIGO2_HUMAN	leucine rich repeat and Ig domain containing 2	324						integral component of membrane (GO:0016021)				autonomic_ganglia(1)|breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	44	Melanoma(11;0.242)	all_neural(11;2.78e-09)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0818)|GBM - Glioblastoma multiforme(2;1.31e-34)|all cancers(2;2.37e-25)|Lung(2;7.48e-08)|LUSC - Lung squamous cell carcinoma(38;5.09e-07)|KIRC - Kidney renal clear cell carcinoma(2;0.0465)|Kidney(2;0.0604)		TTGAGCACGCGTAGGAAGCGG	0.537																																						ENST00000379992.2																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	44						c.(970-972)Cgc>Tgc		leucine rich repeat and Ig domain containing 2							78	82	81					9																	27949700		2203	4300	6503	SO:0001583	missense	158038					integral to membrane		g.chr9:27949700G>A	AL353746	CCDS6524.1	9p21.2	2013-01-11	2007-02-01	2007-02-01	ENSG00000174482	ENSG00000174482		"Immunoglobulin superfamily / I-set domain containing"	21207	protein-coding gene	gene with protein product		609793	"leucine rich repeat neuronal 6C"	LRRN6C		14686891	Standard	NM_152570		Approved	LERN3	uc003zqu.2	Q7L985	OTTHUMG00000019721	ENST00000379992.2:c.970C>T	9.37:g.27949700G>A	ENSP00000369328:p.Arg324Cys					LINGO2_ENST00000308675.3_Missense_Mutation_p.R324C	p.R324C	NM_152570.2	NP_689783.1	Q7L985	LIGO2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (5;0.0818)|GBM - Glioblastoma multiforme(2;1.31e-34)|all cancers(2;2.37e-25)|Lung(2;7.48e-08)|LUSC - Lung squamous cell carcinoma(38;5.09e-07)|KIRC - Kidney renal clear cell carcinoma(2;0.0465)|Kidney(2;0.0604)	6	1419	-	Melanoma(11;0.242)	all_neural(11;2.78e-09)	324					A8K4K7|B2RPM5|Q6ZMD0	Missense_Mutation	SNP	ENST00000379992.2	37	c.970C>T	CCDS6524.1	.	.	.	.	.	.	.	.	.	.	G	10.90	1.481104	0.26598	.	.	ENSG00000174482	ENST00000379992;ENST00000308675	T;T	0.58940	0.3;0.3	5.95	5.95	0.96441	.	0.057872	0.64402	D	0.000002	T	0.67739	0.2925	M	0.87547	2.89	0.80722	D	1	P	0.38048	0.616	B	0.38106	0.265	T	0.69946	-0.5007	9	.	.	.	.	20.3931	0.98965	0.0:0.0:1.0:0.0	.	324	Q7L985	LIGO2_HUMAN	C	324	ENSP00000369328:R324C;ENSP00000310126:R324C	.	R	-	1	0	LINGO2	27939700	1.000000	0.71417	1.000000	0.80357	0.688000	0.40055	4.992000	0.63889	2.824000	0.97209	0.655000	0.94253	CGC		0.537	LINGO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051978.2	NM_152570		30	101	0	0	0	1	0	30	101					A	27949700	G	A	27949700	3	1	258	1	0	0	0	0	1	0	0	0	8815	1145	40	1	854	1	LINGO2	9	27949700	Missense_Mutation	SNP	G	TCGA-HI-7168-01A-11D-2114-08		27949700	113263731	24	12117											
ACTL7B	10880	broad.mit.edu	37	chr9	111617151	111617151	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gctcagctccctctggaagcGctcggggaagccatccagca	8	6	12	15	2	2	0	1	0	1	0	5	2	4	2	3	3	4	4	3	3	2	0			TCGA-HI-7168-01A-11D-2114-08	TCGA-HI-7168-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1706aa-9a73-4b24-b51d-56d3764ea665	0c6efb93-b45f-4607-a8cf-c8b24859ad5d	g.chr9:111617151G>A	ENST00000374667.3	-	1	2088	c.1060C>T	c.(1060-1062)Cgc>Tgc	p.R354C		NM_006686.3	NP_006677.1	Q9Y614	ACL7B_HUMAN	actin-like 7B	354						actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	structural constituent of cytoskeleton (GO:0005200)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						CTCTGGAAGCGCTCGGGGAAG	0.672																																						ENST00000374667.3																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						c.(1060-1062)Cgc>Tgc		actin-like 7B							30	36	34					9																	111617151		2202	4299	6501	SO:0001583	missense	10880					actin cytoskeleton|cytoplasm	structural constituent of cytoskeleton	g.chr9:111617151G>A	BC033789	CCDS6771.1	9q31	2009-05-15			ENSG00000148156	ENSG00000148156			162	protein-coding gene	gene with protein product		604304				10373328, 12907721	Standard	NM_006686		Approved	Tact1	uc004bdi.3	Q9Y614	OTTHUMG00000020462	ENST00000374667.3:c.1060C>T	9.37:g.111617151G>A	ENSP00000363799:p.Arg354Cys						p.R354C	NM_006686.3	NP_006677.1	Q9Y614	ACL7B_HUMAN			1	2088	-			354					B2R9Q2|Q5JSV1	Missense_Mutation	SNP	ENST00000374667.3	37	c.1060C>T	CCDS6771.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.095077	0.76870	.	.	ENSG00000148156	ENST00000374667	D	0.99369	-5.78	5.24	5.24	0.73138	.	0.000000	0.39834	N	0.001248	D	0.99687	0.9882	H	0.98559	4.265	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	D	0.97282	0.9918	10	0.87932	D	0	.	16.3291	0.83001	0.0:0.0:1.0:0.0	.	354	Q9Y614	ACL7B_HUMAN	C	354	ENSP00000363799:R354C	ENSP00000363799:R354C	R	-	1	0	ACTL7B	110656972	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	3.263000	0.51546	2.449000	0.82847	0.561000	0.74099	CGC		0.672	ACTL7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053571.1	NM_006686		24	55	0	0	0	1	0	24	55					A	111617151	G	A	111617151	3	1	258	1	0	0	0	0	1	0	0	0	201	1087	38	1	191	1	ACTL7B	9	111617151	Missense_Mutation	SNP	G	TCGA-HI-7168-01A-11D-2114-08	83667451	111617151	29596280	25	12118											
OLFM1	10439	broad.mit.edu	37	chr9	138011425	138011425	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tggttgacttcatgaacacgGacaatttcacctcccaccgt	10	11	7	13	2	2	2	2	2	0	0	3	3	3	3	3	2	1	1	3	2	2	3			TCGA-HI-7168-01A-11D-2114-08	TCGA-HI-7168-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1706aa-9a73-4b24-b51d-56d3764ea665	0c6efb93-b45f-4607-a8cf-c8b24859ad5d	g.chr9:138011425G>A	ENST00000371793.3	+	6	1110	c.859G>A	c.(859-861)Gac>Aac	p.D287N	OLFM1_ENST00000371796.3_Missense_Mutation_p.D260N|OLFM1_ENST00000252854.4_Missense_Mutation_p.D269N	NM_001282611.1	NP_001269540.1	Q99784	NOE1_HUMAN	olfactomedin 1	287	Olfactomedin-like. {ECO:0000255|PROSITE- ProRule:PRU00446}.				negative regulation of beta-amyloid formation (GO:1902430)|negative regulation of neuron migration (GO:2001223)|nervous system development (GO:0007399)|protein oligomerization (GO:0051259)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|extracellular space (GO:0005615)|synapse (GO:0045202)	beta-amyloid binding (GO:0001540)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(2)	21		Myeloproliferative disorder(178;0.0333)		Epithelial(140;5.49e-08)|OV - Ovarian serous cystadenocarcinoma(145;9.68e-08)|all cancers(34;1.88e-07)		CATGAACACGGACAATTTCAC	0.547																																						ENST00000252854.4																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(2)	21						c.(805-807)Gac>Aac		olfactomedin 1							133	119	124					9																	138011425		2203	4300	6503	SO:0001583	missense	10439				nervous system development	endoplasmic reticulum lumen	protein binding	g.chr9:138011425G>A	AF035301	CCDS6986.1, CCDS6987.1, CCDS65183.1, CCDS65184.1	9q34.3	2014-01-20			ENSG00000130558	ENSG00000130558			17187	protein-coding gene	gene with protein product	"pancortin"	605366				9039501	Standard	NM_006334		Approved	NOE1, OlfA, AMY, NOELIN	uc004cfl.4	Q99784	OTTHUMG00000020897	ENST00000371793.3:c.859G>A	9.37:g.138011425G>A	ENSP00000360858:p.Asp287Asn					OLFM1_ENST00000371796.3_Missense_Mutation_p.D260N|OLFM1_ENST00000371793.3_Missense_Mutation_p.D287N	p.D269N	NM_014279.4	NP_055094.1	Q99784	NOE1_HUMAN		Epithelial(140;5.49e-08)|OV - Ovarian serous cystadenocarcinoma(145;9.68e-08)|all cancers(34;1.88e-07)	6	992	+		Myeloproliferative disorder(178;0.0333)	287			Olfactomedin-like.		Q53XZ8|Q6IMJ4|Q6IMJ5|Q8N8R0|Q969S7|Q99452	Missense_Mutation	SNP	ENST00000371793.3	37	c.805G>A		.	.	.	.	.	.	.	.	.	.	G	23.0	4.359909	0.82353	.	.	ENSG00000130558	ENST00000252854;ENST00000371796;ENST00000371793;ENST00000539877	D;D;D;D	0.88586	-2.4;-2.4;-2.4;-2.4	5.07	5.07	0.68467	Olfactomedin-like (3);	0.000000	0.85682	D	0.000000	D	0.90490	0.7021	L	0.27053	0.805	0.80722	D	1	D;P	0.76494	0.999;0.891	D;P	0.72338	0.977;0.698	D	0.89371	0.3675	10	0.30078	T	0.28	.	18.4324	0.90630	0.0:0.0:1.0:0.0	.	287;269	Q99784;Q6IMJ8	NOE1_HUMAN;.	N	269;260;287;184	ENSP00000252854:D269N;ENSP00000360861:D260N;ENSP00000360858:D287N;ENSP00000443806:D184N	ENSP00000252854:D269N	D	+	1	0	OLFM1	137151246	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	9.571000	0.98176	2.357000	0.79964	0.561000	0.74099	GAC		0.547	OLFM1-004	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000054974.1	NM_014279		32	60	0	0	0	1	0	32	60					A	138011425	G	A	138011425	3	1	258	1	0	0	0	0	1	0	0	0	10852	1174	41	3	837	3	OLFM1	9	138011425	Missense_Mutation	SNP	G	TCGA-HI-7168-01A-11D-2114-08	26394274	138011425	3202006	26	12119											
FAM171A1	221061	broad.mit.edu	37	chr10	15255871	15255871	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggcagtactttcctgtaaacGctgtcattgacctggtcgac	8	12	10	11	2	1	1	1	1	0	0	3	2	2	1	2	2	2	4	2	2	3	4			TCGA-HI-7168-01A-11D-2114-08	TCGA-HI-7168-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1706aa-9a73-4b24-b51d-56d3764ea665	0c6efb93-b45f-4607-a8cf-c8b24859ad5d	g.chr10:15255871G>A	ENST00000378116.4	-	8	1722	c.1716C>T	c.(1714-1716)agC>agT	p.S572S	FAM171A1_ENST00000477161.1_5'Flank	NM_001010924.1	NP_001010924.1	Q5VUB5	F1711_HUMAN	family with sequence similarity 171, member A1	572						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(6)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	52						TCCTGTAAACGCTGTCATTGA	0.567																																						ENST00000378116.4																			0				breast(6)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	52						c.(1714-1716)agC>agT		family with sequence similarity 171, member A1							101	105	104					10																	15255871		2203	4300	6503	SO:0001819	synonymous_variant	221061					integral to membrane		g.chr10:15255871G>A	AK022946	CCDS31154.1	10p13	2008-06-16	2008-06-16	2008-06-16	ENSG00000148468	ENSG00000148468			23522	protein-coding gene	gene with protein product			"chromosome 10 open reading frame 38"	C10orf38			Standard	NM_001010924		Approved	FLJ12884	uc001iob.3	Q5VUB5	OTTHUMG00000017732	ENST00000378116.4:c.1716C>T	10.37:g.15255871G>A							p.S572S	NM_001010924.1	NP_001010924.1	Q5VUB5	F1711_HUMAN			8	1722	-			572					D3DRT9|Q32M49|Q8N4I0	Silent	SNP	ENST00000378116.4	37	c.1716C>T	CCDS31154.1																																																																																				0.567	FAM171A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046984.1	XM_167709		51	93	0	0	0	1	0	51	93					A	15255871	G	A	15255871	2	1	258	1	0	0	0	0	0	0	0	1	5490	1078	38	1		1	FAM171A1	10	15255871	Silent	SNP	G	TCGA-HI-7168-01A-11D-2114-08		15255871	120278876	27	12120											
ZNF33A	7581	broad.mit.edu	37	chr10	38343826	38343826	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tttgggagaactttgtgtgaTagttcatccctcttgttcca	7	17	9	8	0	2	2	1	1	1	1	4	3	4	2	2	1	1	2	2	1	2	6			TCGA-HI-7168-01A-11D-2114-08	TCGA-HI-7168-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1706aa-9a73-4b24-b51d-56d3764ea665	0c6efb93-b45f-4607-a8cf-c8b24859ad5d	g.chr10:38343826T>C	ENST00000458705.2	+	5	929	c.771T>C	c.(769-771)gaT>gaC	p.D257D	ZNF33A_ENST00000374618.3_Silent_p.D258D|ZNF33A_ENST00000307441.9_Silent_p.D257D|ZNF33A_ENST00000432900.2_Silent_p.D264D|ZNF33A_ENST00000469037.2_Intron			Q06730	ZN33A_HUMAN	zinc finger protein 33A	257					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(2)|endometrium(2)|large_intestine(8)|liver(2)|lung(27)|ovary(2)|prostate(1)|skin(2)	46						CTTTGTGTGATAGTTCATCCC	0.388																																						ENST00000374618.3																			0				cervix(2)|endometrium(2)|large_intestine(8)|liver(2)|lung(27)|ovary(2)|prostate(1)|skin(2)	46						c.(772-774)gaT>gaC		zinc finger protein 33A							75	70	72					10																	38343826		2203	4300	6503	SO:0001819	synonymous_variant	7581					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr10:38343826T>C	D31763	CCDS31182.1, CCDS60514.1, CCDS73088.1, CCDS73089.1	10p11.2	2013-01-08	2005-03-18		ENSG00000189180	ENSG00000189180		"Zinc fingers, C2H2-type", "-"	13096	protein-coding gene	gene with protein product	"zinc finger and ZAK associated protein with KRAB domain"	194521	"zinc finger protein 33a (KOX 31)", "zinc finger protein 11A"	ZNF33, ZNF11A		2014798, 8464732	Standard	NM_006974		Approved	KOX5, KOX31, KIAA0065, FLJ23404, ZZAPK	uc031pui.1	Q06730	OTTHUMG00000017983	ENST00000458705.2:c.771T>C	10.37:g.38343826T>C						ZNF33A_ENST00000458705.2_Silent_p.D257D|ZNF33A_ENST00000307441.9_Silent_p.D257D|ZNF33A_ENST00000469037.2_Intron|ZNF33A_ENST00000432900.2_Silent_p.D264D	p.D258D	NM_001278170.1|NM_001278171.1|NM_001278173.1|NM_001278174.1|NM_001278175.1|NM_001278176.1|NM_001278177.1|NM_001278178.1|NM_001278179.1|NM_006954.1|NM_006974.2	NP_001265099.1|NP_001265100.1|NP_001265102.1|NP_001265103.1|NP_001265104.1|NP_001265105.1|NP_001265106.1|NP_001265107.1|NP_001265108.1|NP_008885.1|NP_008905.1	Q06730	ZN33A_HUMAN			5	952	+			257					A8K9X9|B4E0M8|F6TH33|F8WAJ5|P17013|Q5VZ86	Silent	SNP	ENST00000458705.2	37	c.774T>C	CCDS31182.1																																																																																				0.388	ZNF33A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000047614.1	NM_006974		11	64	0	0	0	1	0	11	64					C	38343826	T	C	38343826	2	2	258	1	0	0	0	0	0	0	0	1	17851	1403	49	4		4	ZNF33A	10	38343826	Silent	SNP	T	TCGA-HI-7168-01A-11D-2114-08	23087955	38343826	97190921	28	12121											
HRAS	3265	broad.mit.edu	37	chr11	533874	533874	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcatggcgctgtactcctccTggccggcggtatccaggatg	5	9	14	13	3	0	0	0	0	0	0	3	1	3	1	4	5	1	4	4	5	2	2	rs121913233		TCGA-HI-7168-01A-11D-2114-08	TCGA-HI-7168-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1706aa-9a73-4b24-b51d-56d3764ea665	0c6efb93-b45f-4607-a8cf-c8b24859ad5d	g.chr11:533874T>C	ENST00000451590.1	-	3	369	c.182A>G	c.(181-183)cAg>cGg	p.Q61R	HRAS_ENST00000468682.2_5'UTR|HRAS_ENST00000417302.1_Missense_Mutation_p.Q61R|HRAS_ENST00000397596.2_Missense_Mutation_p.Q61R|HRAS_ENST00000311189.7_Missense_Mutation_p.Q61R|HRAS_ENST00000397594.1_Missense_Mutation_p.Q61R	NM_001130442.1|NM_005343.2	NP_001123914.1|NP_005334.1	P01112	RASH_HUMAN	Harvey rat sarcoma viral oncogene homolog	61			Q -> K (in follicular thyroid carcinoma samples; somatic mutation; increases transformation of cultured cell lines; dbSNP:rs28933406). {ECO:0000269|PubMed:12727991}.|Q -> L (in melanoma; strongly reduced GTP hydrolysis in the presence of RAF1; increases transformation of cultured cell lines).		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular senescence (GO:0090398)|chemotaxis (GO:0006935)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|intrinsic apoptotic signaling pathway (GO:0097193)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|mitotic cell cycle checkpoint (GO:0007093)|negative regulation of cell differentiation (GO:0045596)|negative regulation of cell proliferation (GO:0008285)|negative regulation of gene expression (GO:0010629)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of Rho GTPase activity (GO:0034259)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of JNK cascade (GO:0046330)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of miRNA metabolic process (GO:2000630)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rac protein signal transduction (GO:0035022)|positive regulation of ruffle assembly (GO:1900029)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of wound healing (GO:0090303)|protein heterooligomerization (GO:0051291)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|protein C-terminus binding (GO:0008022)	p.Q61R(136)|p.Q61L(117)|p.Q61P(3)		adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225)	901		all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GTACTCCTCCTGGCCGGCGGT	0.597	Q61L(KNS62_LUNG)|Q61L(KYSE30_OESOPHAGUS)|Q61L(NCIH1915_LUNG)	6	Mis		"infrequent sarcomas, rare other types"	"rhadomyosarcoma, ganglioneuroblastoma, bladder"			Costello syndrome	HNSCC(11;0.0054)																												ENST00000417302.1	Q61L(KNS62_LUNG)|Q61L(KYSE30_OESOPHAGUS)|Q61L(NCIH1915_LUNG)	6	yes	Dom	yes	Costello syndrome	11	11p15.5	3265	Mis	v-Ha-ras Harvey rat sarcoma viral oncogene homolog			"E, L, M"		"rhadomyosarcoma, ganglioneuroblastoma, bladder"	"infrequent sarcomas, rare other types"		256	Substitution - Missense(256)	p.Q61R(136)|p.Q61L(117)|p.Q61P(3)	skin(70)|thyroid(58)|urinary_tract(53)|prostate(23)|upper_aerodigestive_tract(22)|lung(11)|salivary_gland(6)|haematopoietic_and_lymphoid_tissue(5)|testis(3)|liver(2)|cervix(1)|penis(1)|oesophagus(1)	adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225)	901						c.(181-183)cAg>cGg		Harvey rat sarcoma viral oncogene homolog	Sulindac(DB00605)						117	102	107					11																	533874		2203	4300	6503	SO:0001583	missense	3265	Costello syndrome	Familial Cancer Database	incl.: Facio-Cutaneous-Skeletal syndrome	activation of MAPKK activity|axon guidance|blood coagulation|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of DNA replication|positive regulation of epithelial cell proliferation|Ras protein signal transduction|synaptic transmission	cytosol|Golgi membrane|plasma membrane	GTP binding|GTPase activity|protein C-terminus binding	g.chr11:533874T>C	AJ437024	CCDS7698.1, CCDS7699.1	11p15.5	2014-09-17	2013-07-08		ENSG00000174775	ENSG00000174775			5173	protein-coding gene	gene with protein product		190020	"v-Ha-ras Harvey rat sarcoma viral oncogene homolog"	HRAS1			Standard	NM_176795		Approved		uc010qvx.2	P01112	OTTHUMG00000131919	ENST00000451590.1:c.182A>G	11.37:g.533874T>C	ENSP00000407586:p.Gln61Arg	HNSCC(11;0.0054)				HRAS_ENST00000397596.2_Missense_Mutation_p.Q61R|HRAS_ENST00000468682.2_5'UTR|HRAS_ENST00000451590.1_Missense_Mutation_p.Q61R|HRAS_ENST00000311189.7_Missense_Mutation_p.Q61R|HRAS_ENST00000397594.1_Missense_Mutation_p.Q61R	p.Q61R	NM_176795.3	NP_789765.1	P01112	RASH_HUMAN		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)	3	369	-		all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)	61		Q -> K (in follicular thyroid carcinoma samples; somatic mutation; increases transformation of cultured cell lines; dbSNP:rs28933406).|Q -> L (in melanoma; strongly reduced GTP hydrolysis in the presence of RAF1; increases transformation of cultured cell lines).			B5BUA0|Q14080|Q6FHV9|Q9BR65|Q9UCE2	Missense_Mutation	SNP	ENST00000451590.1	37	c.182A>G	CCDS7698.1	.	.	.	.	.	.	.	.	.	.	T	14.48	2.546606	0.45383	.	.	ENSG00000174775	ENST00000397594;ENST00000397596;ENST00000451590;ENST00000417302;ENST00000311189	D;D;D;D;D	0.83673	-1.75;-1.75;-1.75;-1.75;-1.75	3.64	3.64	0.41730	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.85613	0.5737	M	0.90870	3.155	0.80722	D	1	B;B	0.21071	0.051;0.008	B;B	0.22152	0.022;0.038	D	0.85970	0.1476	10	0.66056	D	0.02	.	11.8872	0.52608	0.0:0.0:0.0:1.0	.	61;61	P01112-2;P01112	.;RASH_HUMAN	R	61	ENSP00000380722:Q61R;ENSP00000380723:Q61R;ENSP00000407586:Q61R;ENSP00000388246:Q61R;ENSP00000309845:Q61R	ENSP00000309845:Q61R	Q	-	2	0	HRAS	523874	1.000000	0.71417	0.985000	0.45067	0.482000	0.33219	7.727000	0.84838	1.662000	0.50781	0.459000	0.35465	CAG		0.597	HRAS-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259403.2	NM_176795		37	91	0	0	0	1	0	37	91					C	533874	T	C	533874	3	2	258	1	0	0	0	0	1	0	0	0	7348	1580	55	4	466	4	HRAS	11	533874	Missense_Mutation	SNP	T	TCGA-HI-7168-01A-11D-2114-08		533874	134472642	29	12122											
OR5L1	219437	broad.mit.edu	37	chr11	55579666	55579666	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acaaagccttctccacctgtGcttcccacctcacagctatc	9	10	4	18	0	2	0	1	0	1	0	5	0	3	0	5	0	3	2	5	0	2	3			TCGA-HI-7168-01A-11D-2114-08	TCGA-HI-7168-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1706aa-9a73-4b24-b51d-56d3764ea665	0c6efb93-b45f-4607-a8cf-c8b24859ad5d	g.chr11:55579666G>T	ENST00000333973.2	+	1	813	c.724G>T	c.(724-726)Gct>Tct	p.A242S		NM_001004738.1	NP_001004738.1	Q8NGL2	OR5L1_HUMAN	olfactory receptor, family 5, subfamily L, member 1	242						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(4)|liver(4)|lung(36)|ovary(2)|pancreas(1)|prostate(5)|skin(9)|stomach(4)|upper_aerodigestive_tract(3)	78		all_epithelial(135;0.208)				CTCCACCTGTGCTTCCCACCT	0.512																																						ENST00000333973.2																			0				NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(4)|liver(4)|lung(36)|ovary(2)|pancreas(1)|prostate(5)|skin(9)|stomach(4)|upper_aerodigestive_tract(3)	78						c.(724-726)Gct>Tct		olfactory receptor, family 5, subfamily L, member 1							181	149	160					11																	55579666		2200	4296	6496	SO:0001583	missense	219437				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55579666G>T	AB065780	CCDS31509.1	11q11	2012-08-09			ENSG00000186117	ENSG00000186117		"GPCR / Class A : Olfactory receptors"	8350	protein-coding gene	gene with protein product							Standard	NM_001004738		Approved	OST262	uc001nhw.1	Q8NGL2	OTTHUMG00000166810	ENST00000333973.2:c.724G>T	11.37:g.55579666G>T	ENSP00000335529:p.Ala242Ser						p.A242S	NM_001004738.1	NP_001004738.1	Q8NGL2	OR5L1_HUMAN			1	813	+		all_epithelial(135;0.208)	242					B2RNK6|Q6IFD0	Missense_Mutation	SNP	ENST00000333973.2	37	c.724G>T	CCDS31509.1	.	.	.	.	.	.	.	.	.	.	g	14.93	2.681971	0.47991	.	.	ENSG00000186117	ENST00000333973	T	0.38887	1.11	4.12	3.2	0.36748	GPCR, rhodopsin-like superfamily (1);	0.122216	0.37261	N	0.002169	T	0.43942	0.1270	L	0.27944	0.81	0.23727	N	0.997009	D	0.64830	0.994	D	0.68039	0.955	T	0.15954	-1.0419	10	0.37606	T	0.19	-18.2241	7.4069	0.26995	0.2048:0.0:0.7952:0.0	.	242	Q8NGL2	OR5L1_HUMAN	S	242	ENSP00000335529:A242S	ENSP00000335529:A242S	A	+	1	0	OR5L1	55336242	0.000000	0.05858	0.996000	0.52242	0.772000	0.43724	-0.705000	0.05052	0.740000	0.32651	0.428000	0.28381	GCT		0.512	OR5L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391514.1	NM_001004738		25	109	1	0	1.55469e-16	1	1.96623e-16	25	109					T	55579666	G	T	55579666	3	4	258	1	0	0	0	0	1	0	0	0	11170	1319	46	5	726	5	OR5L1	11	55579666	Missense_Mutation	SNP	G	TCGA-HI-7168-01A-11D-2114-08	55045792	55579666	79426850	30	12123											
ST14	6768	broad.mit.edu	37	chr11	130079559	130079559	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggcttgtctccgcccagggTgattccgggggacccctgtc	3	9	15	14	2	1	1	0	1	1	0	4	2	2	2	5	4	0	1	5	4	0	2			TCGA-HI-7168-01A-11D-2114-08	TCGA-HI-7168-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1706aa-9a73-4b24-b51d-56d3764ea665	0c6efb93-b45f-4607-a8cf-c8b24859ad5d	g.chr11:130079559T>G	ENST00000278742.5	+	19	2827	c.2409T>G	c.(2407-2409)ggT>ggG	p.G803G		NM_021978.3	NP_068813.1	Q9Y5Y6	ST14_HUMAN	suppression of tumorigenicity 14 (colon carcinoma)	803	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				keratinocyte differentiation (GO:0030216)|proteolysis (GO:0006508)	basolateral plasma membrane (GO:0016323)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of plasma membrane (GO:0019897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|pancreas(2)|prostate(1)|skin(3)	32	all_hematologic(175;0.0429)	Lung NSC(97;0.000602)|Breast(109;0.000962)|all_lung(97;0.00126)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0183)|Lung(977;0.228)	Urokinase(DB00013)	CCGCCCAGGGTGATTCCGGGG	0.721																																						ENST00000278742.5																			0				central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|pancreas(2)|prostate(1)|skin(3)	32						c.(2407-2409)ggT>ggG		suppression of tumorigenicity 14 (colon carcinoma)	Urokinase(DB00013)						29	31	30					11																	130079559		2200	4296	6496	SO:0001819	synonymous_variant	6768				proteolysis	integral to plasma membrane	serine-type endopeptidase activity	g.chr11:130079559T>G	AF118224	CCDS8487.1	11q24-q25	2011-08-31	2005-11-19		ENSG00000149418	ENSG00000149418		"Serine peptidases / Transmembrane"	11344	protein-coding gene	gene with protein product	"epithin", "matriptase"	606797		PRSS14		9925927, 10373424	Standard	NM_021978		Approved	SNC19, HAI, MT-SP1, TMPRSS14	uc001qfw.3	Q9Y5Y6	OTTHUMG00000165768	ENST00000278742.5:c.2409T>G	11.37:g.130079559T>G							p.G803G	NM_021978.3	NP_068813.1	Q9Y5Y6	ST14_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.0183)|Lung(977;0.228)	19	2827	+	all_hematologic(175;0.0429)	Lung NSC(97;0.000602)|Breast(109;0.000962)|all_lung(97;0.00126)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)	803			Peptidase S1.		Q9BS01|Q9H3S0|Q9HB36|Q9HCA3	Silent	SNP	ENST00000278742.5	37	c.2409T>G	CCDS8487.1																																																																																				0.721	ST14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386119.1			5	19	0	0	0	1	0	5	19					G	130079559	T	G	130079559	2	3	258	1	0	0	0	0	0	0	0	1	15210	1683	59	5		5	ST14	11	130079559	Silent	SNP	T	TCGA-HI-7168-01A-11D-2114-08	74499893	130079559	4926957	31	12124											
DPY19L2	283417	broad.mit.edu	37	chr12	64017904	64017904	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggtggtgtccacatcacaCgggtggcctgaaatcaacaa	12	7	12	10	1	2	1	2	1	0	0	3	2	3	1	2	4	1	0	2	4	3	0	rs147579680	byFrequency	TCGA-HI-7168-01A-11D-2114-08	TCGA-HI-7168-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1706aa-9a73-4b24-b51d-56d3764ea665	0c6efb93-b45f-4607-a8cf-c8b24859ad5d	g.chr12:64017904C>T	ENST00000324472.4	-	8	1052	c.869G>A	c.(868-870)cGt>cAt	p.R290H	RP11-415I12.3_ENST00000509615.2_RNA	NM_173812.4	NP_776173.3	Q6NUT2	D19L2_HUMAN	dpy-19-like 2 (C. elegans)	290					multicellular organismal development (GO:0007275)|spermatid development (GO:0007286)	integral component of membrane (GO:0016021)|nuclear inner membrane (GO:0005637)|nucleus (GO:0005634)	transferase activity, transferring glycosyl groups (GO:0016757)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	45			GBM - Glioblastoma multiforme(1;2.77e-05)	GBM - Glioblastoma multiforme(28;0.044)		CCACATCACACGGGTGGCCTG	0.353													C|||	2	0.000399361	0	0.0014	5008	,	,		16418	0		0.001	False		,,,				2504	0					ENST00000324472.4																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						c.(868-870)cGt>cAt		dpy-19-like 2 (C. elegans)		C	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	45	42	43		869	2.8	1	12	dbSNP_134	43	6,8594	4.3+/-15.6	0,6,4294	no	missense	DPY19L2	NM_173812.4	29	0,7,6496	TT,TC,CC		0.0698,0.0227,0.0538	probably-damaging	290/759	64017904	7,12999	2203	4300	6503	SO:0001583	missense	283417				multicellular organismal development|spermatid development	integral to membrane		g.chr12:64017904C>T		CCDS31851.1	12q14.2	2012-11-14			ENSG00000177990	ENSG00000177990			19414	protein-coding gene	gene with protein product	"spermatogenesis associated 34"	613893				12975309	Standard	XM_006719348		Approved	FLJ32949, SPATA34	uc001srp.1	Q6NUT2	OTTHUMG00000168712	ENST00000324472.4:c.869G>A	12.37:g.64017904C>T	ENSP00000315988:p.Arg290His					RP11-415I12.3_ENST00000509615.2_RNA	p.R290H	NM_173812.4	NP_776173.3	Q6NUT2	D19L2_HUMAN	GBM - Glioblastoma multiforme(1;2.77e-05)	GBM - Glioblastoma multiforme(28;0.044)	8	1052	-			290					A4FVC1|B4E191|Q3ZCX2|Q6UWG8|Q96LZ9	Missense_Mutation	SNP	ENST00000324472.4	37	c.869G>A	CCDS31851.1	.	.	.	.	.	.	.	.	.	.	C	18.93	3.727809	0.69074	2.27E-4	6.98E-4	ENSG00000177990	ENST00000324472	T	0.66280	-0.2	2.78	2.78	0.32641	.	0.000000	0.85682	D	0.000000	T	0.57051	0.2027	N	0.08118	0	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.55289	-0.8164	9	.	.	.	.	11.0306	0.47769	0.0:1.0:0.0:0.0	.	290	Q6NUT2	D19L2_HUMAN	H	290	ENSP00000315988:R290H	.	R	-	2	0	DPY19L2	62304171	1.000000	0.71417	0.972000	0.41901	0.982000	0.71751	5.795000	0.69074	1.388000	0.46506	0.398000	0.26397	CGT		0.353	DPY19L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400689.2	NM_173812		3	39	0	0	0	1	0	3	39					T	64017904	C	T	64017904	3	4	258	1	0	0	0	0	1	0	0	0	4741	536	19	1	1467	1	DPY19L2	12	64017904	Missense_Mutation	SNP	C	TCGA-HI-7168-01A-11D-2114-08		64017904	69833991	32	12125											
FREM2	341640	broad.mit.edu	37	chr13	39433450	39433450	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aaccccaaatattcagactaCgataaaacaggctctatctg	16	9	5	11	1	3	1	1	0	2	1	3	2	3	1	2	1	3	1	2	1	7	5			TCGA-HI-7168-01A-11D-2114-08	TCGA-HI-7168-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1706aa-9a73-4b24-b51d-56d3764ea665	0c6efb93-b45f-4607-a8cf-c8b24859ad5d	g.chr13:39433450C>T	ENST00000280481.7	+	14	7458	c.7242C>T	c.(7240-7242)taC>taT	p.Y2414Y		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	2414					cell communication (GO:0007154)|homophilic cell adhesion (GO:0007156)|inner ear development (GO:0048839)|morphogenesis of an epithelium (GO:0002009)	basement membrane (GO:0005604)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		ATTCAGACTACGATAAAACAG	0.498																																						ENST00000280481.7																			0				NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148						c.(7240-7242)taC>taT		FRAS1 related extracellular matrix protein 2							141	123	129					13																	39433450		2203	4300	6503	SO:0001819	synonymous_variant	341640				cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr13:39433450C>T	BX538150	CCDS31960.1	13q13.3	2004-12-15			ENSG00000150893	ENSG00000150893			25396	protein-coding gene	gene with protein product		608945				15345741	Standard	NM_207361		Approved	DKFZp686J0811	uc001uwv.3	Q5SZK8	OTTHUMG00000016759	ENST00000280481.7:c.7242C>T	13.37:g.39433450C>T							p.Y2414Y	NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)	14	7458	+		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)	2414					Q4QQG1|Q5H9N8|Q5T6Q1|Q6N057|Q6ZSB4|Q7Z305|Q7Z341	Silent	SNP	ENST00000280481.7	37	c.7242C>T	CCDS31960.1																																																																																				0.498	FREM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044599.2	NM_207361		17	105	0	0	0	1	0	17	105					T	39433450	C	T	39433450	2	4	258	1	0	0	0	0	0	0	0	1	6045	547	19	1		1	FREM2	13	39433450	Silent	SNP	C	TCGA-HI-7168-01A-11D-2114-08		39433450	75736428	33	12126											
NALCN	259232	broad.mit.edu	37	chr13	102029302	102029302	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aattctggtccttggcagttCaaatcggaaataaatccgga	13	11	9	8	2	2	0	1	0	1	0	5	2	4	2	2	4	0	2	2	4	5	4			TCGA-HI-7168-01A-11D-2114-08	TCGA-HI-7168-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1706aa-9a73-4b24-b51d-56d3764ea665	0c6efb93-b45f-4607-a8cf-c8b24859ad5d	g.chr13:102029302C>G	ENST00000251127.6	-	5	562	c.481G>C	c.(481-483)Gaa>Caa	p.E161Q	NALCN_ENST00000376196.3_Missense_Mutation_p.E161Q|NALCN_ENST00000376200.5_Missense_Mutation_p.E161Q|NALCN_ENST00000470333.1_5'UTR	NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	161					calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|cell death (GO:0008219)|ion transmembrane transport (GO:0034220)|membrane depolarization during action potential (GO:0086010)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium channel activity (GO:0005272)|voltage-gated calcium channel activity (GO:0005245)			NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					CTTGGCAGTTCAAATCGGAAA	0.373																																						ENST00000251127.6																			0				NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177						c.(481-483)Gaa>Caa		sodium leak channel, non-selective							68	69	69					13																	102029302		2203	4300	6503	SO:0001583	missense	259232					integral to membrane	sodium channel activity|voltage-gated ion channel activity	g.chr13:102029302C>G	AY141972	CCDS9498.1	13q32.3	2012-02-21	2007-04-26	2007-04-26	ENSG00000102452	ENSG00000102452		"Ion channels / Sodium leak channels, non-selective"	19082	protein-coding gene	gene with protein product		611549	"voltage gated channel like 1"	VGCNL1		17448995	Standard	XM_006719943		Approved	bA430M15.1, CanIon	uc001vox.1	Q8IZF0	OTTHUMG00000017295	ENST00000251127.6:c.481G>C	13.37:g.102029302C>G	ENSP00000251127:p.Glu161Gln					NALCN_ENST00000376200.5_Missense_Mutation_p.E161Q|NALCN_ENST00000376196.3_Missense_Mutation_p.E161Q|NALCN_ENST00000470333.1_5'UTR	p.E161Q	NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN			5	562	-	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		161					Q6P2S6|Q6ZMI7|Q8IZZ1|Q8TAH1	Missense_Mutation	SNP	ENST00000251127.6	37	c.481G>C	CCDS9498.1	.	.	.	.	.	.	.	.	.	.	C	14.76	2.630300	0.46944	.	.	ENSG00000102452	ENST00000251127;ENST00000376196;ENST00000376200;ENST00000449582	D;D;D	0.98732	-5.1;-5.1;-5.1	4.92	4.92	0.64577	Ion transport (1);	0.051849	0.85682	D	0.000000	D	0.94115	0.8113	N	0.01874	-0.695	0.80722	D	1	B;B	0.20887	0.049;0.049	B;B	0.26416	0.069;0.042	D	0.91054	0.4880	10	0.24483	T	0.36	.	18.1641	0.89719	0.0:1.0:0.0:0.0	.	161;161	F2Z323;Q8IZF0	.;NALCN_HUMAN	Q	161	ENSP00000251127:E161Q;ENSP00000365367:E161Q;ENSP00000365373:E161Q	ENSP00000251127:E161Q	E	-	1	0	NALCN	100827303	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.487000	0.81328	2.283000	0.76528	0.650000	0.86243	GAA		0.373	NALCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045663.2	NM_052867		11	60	0	0	0	1	0	11	60					G	102029302	C	G	102029302	3	3	258	1	0	0	0	0	1	0	0	0	10148	835	29	5	4895	5	NALCN	13	102029302	Missense_Mutation	SNP	C	TCGA-HI-7168-01A-11D-2114-08	62595852	102029302	13140576	34	12127											
SNW1	22938	broad.mit.edu	37	chr14	78205374	78205374	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tgcattcataacctcctttgGaaccaggtcagtgtatttgc	9	14	8	10	0	2	0	2	0	0	0	3	1	3	1	3	2	4	2	3	2	3	5			TCGA-HI-7168-01A-11D-2114-08	TCGA-HI-7168-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1706aa-9a73-4b24-b51d-56d3764ea665	0c6efb93-b45f-4607-a8cf-c8b24859ad5d	g.chr14:78205374G>A	ENST00000261531.7	-	4	423	c.361C>T	c.(361-363)Cca>Tca	p.P121S	SLIRP_ENST00000557431.1_Intron|SNW1_ENST00000555761.1_Missense_Mutation_p.P121S|SNW1_ENST00000554775.1_Intron	NM_012245.2	NP_036377.1	Q13573	SNW1_HUMAN	SNW domain containing 1	121					cellular response to retinoic acid (GO:0071300)|gene expression (GO:0010467)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of mRNA splicing, via spliceosome (GO:0048026)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|positive regulation of vitamin D receptor signaling pathway (GO:0070564)|regulation of retinoic acid receptor signaling pathway (GO:0048385)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of vitamin D receptor signaling pathway (GO:0070562)|retinoic acid receptor signaling pathway (GO:0048384)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	catalytic step 2 spliceosome (GO:0071013)|chromatin (GO:0000785)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	Notch binding (GO:0005112)|nuclear hormone receptor binding (GO:0035257)|poly(A) RNA binding (GO:0044822)|retinoic acid receptor binding (GO:0042974)|SMAD binding (GO:0046332)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|vitamin D receptor binding (GO:0042809)			NS(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0291)		ACCTCCTTTGGAACCAGGTCA	0.383																																						ENST00000261531.7																			0				NS(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24						c.(361-363)Cca>Tca		SNW domain containing 1							244	255	251					14																	78205374		2203	4300	6503	SO:0001583	missense	22938				negative regulation of transcription, DNA-dependent|nuclear mRNA splicing, via spliceosome|regulation of transcription from RNA polymerase II promoter	catalytic step 2 spliceosome|nucleoplasm	Notch binding	g.chr14:78205374G>A	AF045184	CCDS9867.1	14q22.1-q22.3	2005-09-13	2005-09-13	2005-09-13		ENSG00000100603			16696	protein-coding gene	gene with protein product		603055	"SKI interacting protein"	SKIIP		8973337, 9632709	Standard	NM_012245		Approved	NCoA-62, SKIP, Prp45, PRPF45, Bx42	uc001xuf.3	Q13573		ENST00000261531.7:c.361C>T	14.37:g.78205374G>A	ENSP00000261531:p.Pro121Ser					SLIRP_ENST00000557431.1_Intron|SNW1_ENST00000554775.1_Intron|SNW1_ENST00000555761.1_Missense_Mutation_p.P121S	p.P121S	NM_012245.2	NP_036377.1	Q13573	SNW1_HUMAN	Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0291)	4	423	-			121					A8K8A9|Q13483|Q32N03|Q5D0D6	Missense_Mutation	SNP	ENST00000261531.7	37	c.361C>T	CCDS9867.1	.	.	.	.	.	.	.	.	.	.	G	25.9	4.689194	0.88735	.	.	ENSG00000100603	ENST00000261531;ENST00000555761;ENST00000416259;ENST00000554324	.	.	.	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	T	0.79857	0.4518	M	0.85777	2.775	0.80722	D	1	P;B	0.35033	0.481;0.02	P;B	0.45856	0.495;0.007	T	0.81064	-0.1102	9	0.66056	D	0.02	.	19.6779	0.95945	0.0:0.0:1.0:0.0	.	121;121	G3V3A4;Q13573	.;SNW1_HUMAN	S	121	.	ENSP00000261531:P121S	P	-	1	0	SNW1	77275127	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.420000	0.97426	2.656000	0.90262	0.460000	0.39030	CCA		0.383	SNW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413912.1	NM_012245		30	346	0	0	0	1	0	30	346					A	78205374	G	A	78205374	3	1	258	1	0	0	0	0	1	0	0	0	14879	1174	41	3	1293	3	SNW1	14	78205374	Missense_Mutation	SNP	G	TCGA-HI-7168-01A-11D-2114-08		78205374	29144166	35	12128											
DLL4	54567	broad.mit.edu	37	chr15	41229089	41229089	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggaaagtttccccacagtgAcaagagcttaggagagaagg	15	6	13	7	0	0	3	0	1	0	2	1	6	1	5	2	3	1	2	2	3	4	2			TCGA-HI-7168-01A-11D-2114-08	TCGA-HI-7168-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1706aa-9a73-4b24-b51d-56d3764ea665	0c6efb93-b45f-4607-a8cf-c8b24859ad5d	g.chr15:41229089A>C	ENST00000249749.5	+	9	2180	c.1904A>C	c.(1903-1905)gAc>gCc	p.D635A		NM_019074.3	NP_061947.1	Q9NR61	DLL4_HUMAN	delta-like 4 (Drosophila)	635					angiogenesis (GO:0001525)|blood circulation (GO:0008015)|blood vessel lumenization (GO:0072554)|blood vessel remodeling (GO:0001974)|cardiac atrium morphogenesis (GO:0003209)|cardiac ventricle morphogenesis (GO:0003208)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|dorsal aorta morphogenesis (GO:0035912)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of cell proliferation (GO:0008285)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|patterning of blood vessels (GO:0001569)|pericardium morphogenesis (GO:0003344)|positive regulation of neural precursor cell proliferation (GO:2000179)|regulation of neural retina development (GO:0061074)|regulation of neurogenesis (GO:0050767)|signal transduction (GO:0007165)|ventral spinal cord interneuron fate commitment (GO:0060579)|ventricular trabecula myocardium morphogenesis (GO:0003222)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|Notch binding (GO:0005112)			breast(3)|large_intestine(1)	4		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;1.07e-05)|COAD - Colon adenocarcinoma(120;0.15)|BRCA - Breast invasive adenocarcinoma(123;0.164)		CCCCACAGTGACAAGAGCTTA	0.602																																						ENST00000249749.5																			0				breast(3)|large_intestine(1)	4						c.(1903-1905)gAc>gCc		delta-like 4 (Drosophila)							20	22	21					15																	41229089		1919	4112	6031	SO:0001583	missense	54567				blood circulation|cell communication|cell differentiation|Notch receptor processing|Notch signaling pathway	integral to membrane|plasma membrane	calcium ion binding|Notch binding	g.chr15:41229089A>C	AF253468	CCDS45232.1	15q14	2008-07-03	2001-12-03			ENSG00000128917			2910	protein-coding gene	gene with protein product		605185	"delta-like 4 homolog (Drosophila)"			10837024	Standard	NM_019074		Approved		uc001zng.2	Q9NR61		ENST00000249749.5:c.1904A>C	15.37:g.41229089A>C	ENSP00000249749:p.Asp635Ala						p.D635A	NM_019074.3	NP_061947.1	Q9NR61	DLL4_HUMAN		GBM - Glioblastoma multiforme(113;1.07e-05)|COAD - Colon adenocarcinoma(120;0.15)|BRCA - Breast invasive adenocarcinoma(123;0.164)	9	2180	+		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)	635					Q3KP23|Q9NQT9	Missense_Mutation	SNP	ENST00000249749.5	37	c.1904A>C	CCDS45232.1	.	.	.	.	.	.	.	.	.	.	A	17.93	3.508371	0.64410	.	.	ENSG00000128917	ENST00000249749	D	0.88586	-2.4	5.47	5.47	0.80525	.	0.345459	0.37393	N	0.002112	T	0.81740	0.4886	N	0.16790	0.44	0.58432	D	0.999991	P	0.46395	0.877	B	0.40636	0.335	D	0.83797	0.0234	10	0.45353	T	0.12	.	15.7063	0.77583	1.0:0.0:0.0:0.0	.	635	Q9NR61	DLL4_HUMAN	A	635	ENSP00000249749:D635A	ENSP00000249749:D635A	D	+	2	0	DLL4	39016381	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.139000	0.94554	2.293000	0.77203	0.528000	0.53228	GAC		0.602	DLL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418859.1			17	7	0	0	0	1	0	17	7					C	41229089	A	C	41229089	3	2	258	1	0	0	0	0	1	0	0	0	4568	275	10	5	1938	5	DLL4	15	41229089	Missense_Mutation	SNP	A	TCGA-HI-7168-01A-11D-2114-08		41229089	61302303	36	12129											
C15orf33	196951	broad.mit.edu	37	chr15	49800527	49800527	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gtttccagtggatccaaaagCctttttgaggttttaaacct	10	15	8	8	0	0	1	0	1	0	0	2	2	2	2	4	2	2	2	4	2	4	5	rs185086177	byFrequency	TCGA-HI-7168-01A-11D-2114-08	TCGA-HI-7168-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1706aa-9a73-4b24-b51d-56d3764ea665	0c6efb93-b45f-4607-a8cf-c8b24859ad5d	g.chr15:49800527C>A	ENST00000299338.6	-	11	1196	c.893G>T	c.(892-894)gGc>gTc	p.G298V	FAM227B_ENST00000561064.1_Missense_Mutation_p.G264V	NM_152647.2	NP_689860.2	Q96M60	F227B_HUMAN	family with sequence similarity 227, member B	298																	GATCCAAAAGCCTTTTTGAGG	0.313													C|||	3	0.000599042	0	0.0029	5008	,	,		14354	0		0.001	False		,,,				2504	0					ENST00000299338.6																			0											c.(892-894)gGc>gTc		family with sequence similarity 227, member B							106	106	106					15																	49800527		2196	4295	6491	SO:0001583	missense	196951							g.chr15:49800527C>A		CCDS32237.1	15q21.2	2012-07-04	2012-07-04	2012-07-04	ENSG00000166262	ENSG00000166262			26543	protein-coding gene	gene with protein product			"chromosome 15 open reading frame 33"	C15orf33			Standard	NM_152647		Approved	FLJ32800	uc001zxl.2	Q96M60	OTTHUMG00000172328	ENST00000299338.6:c.893G>T	15.37:g.49800527C>A	ENSP00000299338:p.Gly298Val					FAM227B_ENST00000561064.1_Missense_Mutation_p.G264V	p.G298V	NM_152647.2	NP_689860.2					11	1196	-								Q86WS2	Missense_Mutation	SNP	ENST00000299338.6	37	c.893G>T	CCDS32237.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	12.74	2.029336	0.35797	.	.	ENSG00000166262	ENST00000299338;ENST00000354658	.	.	.	4.01	1.05	0.20165	.	0.567736	0.15839	N	0.242132	T	0.48484	0.1502	M	0.65975	2.015	0.24652	N	0.993513	D;D	0.61080	0.989;0.974	P;P	0.55391	0.775;0.731	T	0.33343	-0.9872	9	0.40728	T	0.16	-19.6793	5.9562	0.19275	0.0:0.6564:0.0:0.3436	.	264;298	Q96M60-2;Q96M60	.;CO033_HUMAN	V	298;264	.	ENSP00000299338:G298V	G	-	2	0	C15orf33	47587819	0.053000	0.20554	0.815000	0.32552	0.971000	0.66376	1.198000	0.32223	0.118000	0.18165	0.557000	0.71058	GGC		0.313	FAM227B-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417872.1	NM_152647		24	35	1	0	1.55469e-16	1	1.96623e-16	24	35					A	49800527	C	A	49800527	3	1	258	1	0	0	0	0	1	0	0	0	1791	739	26	5	657	5	C15orf33	15	49800527	Missense_Mutation	SNP	C	TCGA-HI-7168-01A-11D-2114-08	8571438	49800527	52730865	37	12130											
PDIA2	64714	broad.mit.edu	37	chr16	335185	335185	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cacagcatgcgcctggtcacGgagttcaacagccaggtgcg	9	6	13	13	3	2	0	2	0	0	0	2	1	2	1	2	3	5	2	2	3	1	1	rs45503892	byFrequency	TCGA-HI-7168-01A-11D-2114-08	TCGA-HI-7168-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1706aa-9a73-4b24-b51d-56d3764ea665	0c6efb93-b45f-4607-a8cf-c8b24859ad5d	g.chr16:335185G>A	ENST00000219406.6	+	5	798	c.780G>A	c.(778-780)acG>acA	p.T260T	PDIA2_ENST00000404312.1_Silent_p.T257T|PDIA2_ENST00000462950.1_3'UTR	NM_006849.2	NP_006840.2	Q13087	PDIA2_HUMAN	protein disulfide isomerase family A, member 2	260					cell redox homeostasis (GO:0045454)|peptidyl-proline hydroxylation (GO:0019511)|protein folding (GO:0006457)|protein retention in ER lumen (GO:0006621)|regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902175)|response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum (GO:0005783)	protein disulfide isomerase activity (GO:0003756)|steroid binding (GO:0005496)			breast(1)|central_nervous_system(4)|kidney(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	17		all_cancers(16;6.71e-07)|all_epithelial(16;1.59e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00769)|all_lung(18;0.0186)				GCCTGGTCACGGAGTTCAACA	0.662													g|||	8	0.00159744	0	0	5008	,	,		14604	0		0.006	False		,,,				2504	0.002					ENST00000219406.6																			0				breast(1)|central_nervous_system(4)|kidney(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	17						c.(778-780)acG>acA		protein disulfide isomerase family A, member 2				5,4213		0,5,2104	31	34	33		780	-8	0.9	16	dbSNP_127	33	57,8377		1,55,4161	no	coding-synonymous	PDIA2	NM_006849.2		1,60,6265	AA,AG,GG		0.6758,0.1185,0.49		260/526	335185	62,12590	2109	4217	6326	SO:0001819	synonymous_variant	64714				apoptosis|cell redox homeostasis|glycerol ether metabolic process|protein folding|protein retention in ER lumen|response to hypoxia	endoplasmic reticulum lumen	electron carrier activity|protein binding|protein disulfide isomerase activity|protein disulfide oxidoreductase activity|steroid binding	g.chr16:335185G>A	U19948	CCDS42089.1	16p13.3	2009-11-20	2005-06-29	2005-03-03	ENSG00000185615	ENSG00000185615	5.3.4.1	"Protein disulfide isomerases"	14180	protein-coding gene	gene with protein product		608012	"protein disulfide isomerase, pancreatic", "protein disulfide isomerase-associated 2"	PDIP		8561901	Standard	NM_006849		Approved	PDA2, PDI, PDIR	uc002cgo.1	Q13087	OTTHUMG00000064891	ENST00000219406.6:c.780G>A	16.37:g.335185G>A						PDIA2_ENST00000404312.1_Silent_p.T257T|PDIA2_ENST00000462950.1_3'UTR	p.T260T	NM_006849.2	NP_006840.2	Q13087	PDIA2_HUMAN			5	798	+		all_cancers(16;6.71e-07)|all_epithelial(16;1.59e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00769)|all_lung(18;0.0186)	260					A6ZJ64|B4DI27|Q2WGM4|Q4TT67|Q6B010|Q96KJ6|Q9BW95	Silent	SNP	ENST00000219406.6	37	c.780G>A	CCDS42089.1																																																																																				0.662	PDIA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000139315.3	NM_006849		3	39	0	0	0	1	0	3	39					A	335185	G	A	335185	2	1	258	1	0	0	0	0	0	0	0	1	11668	1103	39	2		2	PDIA2	16	335185	Silent	SNP	G	TCGA-HI-7168-01A-11D-2114-08		335185	90019568	38	12131											
TELO2	9894	broad.mit.edu	37	chr16	1556317	1556317	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acttcttcttccccctccttCagcgctttgacaggtgagtg	5	14	8	14	1	3	2	1	2	2	0	5	2	5	2	3	1	1	1	3	1	0	5			TCGA-HI-7168-01A-11D-2114-08	TCGA-HI-7168-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1706aa-9a73-4b24-b51d-56d3764ea665	0c6efb93-b45f-4607-a8cf-c8b24859ad5d	g.chr16:1556317C>T	ENST00000262319.6	+	17	2392	c.2113C>T	c.(2113-2115)Cag>Tag	p.Q705*	TELO2_ENST00000564507.1_3'UTR	NM_016111.3	NP_057195.2	Q9Y4R8	TELO2_HUMAN	telomere maintenance 2	705					regulation of TOR signaling (GO:0032006)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|intracellular (GO:0005622)|membrane (GO:0016020)|nucleus (GO:0005634)|TORC1 complex (GO:0031931)|TORC2 complex (GO:0031932)	protein complex binding (GO:0032403)			NS(1)|endometrium(1)|kidney(5)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	19		Hepatocellular(780;0.219)				CCCCCTCCTTCAGCGCTTTGA	0.637																																						ENST00000262319.6																			0				NS(1)|endometrium(1)|kidney(5)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	19						c.(2113-2115)Cag>Tag		telomere maintenance 2							86	90	89					16																	1556317		2199	4300	6499	SO:0001587	stop_gained	9894					chromosome, telomeric region|cytoplasm|membrane|nucleus	protein binding	g.chr16:1556317C>T	AL080126	CCDS32363.1	16p13.3	2013-08-06	2013-08-06		ENSG00000100726	ENSG00000100726			29099	protein-coding gene	gene with protein product		611140	"TEL2, telomere maintenance 2, homolog (S. cerevisiae)"			9734811, 11230166, 12670948	Standard	NM_016111		Approved	KIAA0683, hCLK2, TEL2	uc002cly.3	Q9Y4R8	OTTHUMG00000044471	ENST00000262319.6:c.2113C>T	16.37:g.1556317C>T	ENSP00000262319:p.Gln705*					TELO2_ENST00000564507.1_3'UTR	p.Q705*	NM_016111.3	NP_057195.2	Q9Y4R8	TELO2_HUMAN			17	2392	+		Hepatocellular(780;0.219)	705					D3DU73|O75168|Q7LDV4|Q9BR21	Nonsense_Mutation	SNP	ENST00000262319.6	37	c.2113C>T	CCDS32363.1	.	.	.	.	.	.	.	.	.	.	C	34	5.374649	0.95923	.	.	ENSG00000100726	ENST00000437914;ENST00000262319	.	.	.	4.32	2.25	0.28309	.	0.164454	0.53938	D	0.000053	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07030	T	0.85	-11.9493	8.4149	0.32666	0.0:0.755:0.1549:0.0901	.	.	.	.	X	228;705	.	ENSP00000262319:Q705X	Q	+	1	0	TELO2	1496318	0.026000	0.19158	0.201000	0.23476	0.128000	0.20619	1.657000	0.37366	0.815000	0.34398	0.462000	0.41574	CAG		0.637	TELO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103602.2	NM_016111		10	82	0	0	0	1	0	10	82					T	1556317	C	T	1556317	4	4	258	1	0	0	0	0	0	1	0	0	15754	827	29	3	2175	3	TELO2	16	1556317	Nonsense_Mutation	SNP	C	TCGA-HI-7168-01A-11D-2114-08	1221132	1556317	88798436	39	12132											
PAQR4	124222	broad.mit.edu	37	chr16	3019808	3019808	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctgcgcagcctcttctacCtgcacaacgaactgggcaac	9	7	9	16	2	2	0	0	0	2	0	2	1	2	0	3	1	7	3	3	1	4	2			TCGA-HI-7168-01A-11D-2114-08	TCGA-HI-7168-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1706aa-9a73-4b24-b51d-56d3764ea665	0c6efb93-b45f-4607-a8cf-c8b24859ad5d	g.chr16:3019808C>G	ENST00000318782.8	+	1	563	c.133C>G	c.(133-135)Ctg>Gtg	p.L45V	PKMYT1_ENST00000571102.1_Intron|PAQR4_ENST00000572687.1_Missense_Mutation_p.L45V|PAQR4_ENST00000576565.1_Intron|PAQR4_ENST00000293978.8_Missense_Mutation_p.L45V|PAQR4_ENST00000574988.1_5'Flank|PKMYT1_ENST00000431515.2_Intron	NM_001284513.1|NM_152341.3	NP_001271442.1|NP_689554.2	Q8N4S7	PAQR4_HUMAN	progestin and adipoQ receptor family member IV	45						integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	8						CCTCTTCTACCTGCACAACGA	0.697																																						ENST00000318782.8																			0				kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	8						c.(133-135)Ctg>Gtg		progestin and adipoQ receptor family member IV							15	17	16					16																	3019808		2182	4283	6465	SO:0001583	missense	124222					integral to membrane	receptor activity	g.chr16:3019808C>G		CCDS10485.1, CCDS66911.1, CCDS66912.1, CCDS73814.1	16p13	2008-05-02			ENSG00000162073	ENSG00000162073			26386	protein-coding gene	gene with protein product		614578				12477932	Standard	XM_005255112		Approved	FLJ30002	uc002csj.4	Q8N4S7	OTTHUMG00000128977	ENST00000318782.8:c.133C>G	16.37:g.3019808C>G	ENSP00000321804:p.Leu45Val					PAQR4_ENST00000576565.1_Intron|PAQR4_ENST00000572687.1_Missense_Mutation_p.L45V|PAQR4_ENST00000293978.8_Missense_Mutation_p.L45V|PKMYT1_ENST00000431515.2_Intron|PKMYT1_ENST00000571102.1_Intron	p.L45V	NM_152341.3	NP_689554.2	Q8N4S7	PAQR4_HUMAN			1	563	+			45					A8K5Q8|D3DUA2|D3DUA3|Q8NAS6|Q96NW1	Missense_Mutation	SNP	ENST00000318782.8	37	c.133C>G	CCDS10485.1	.	.	.	.	.	.	.	.	.	.	C	15.25	2.776761	0.49786	.	.	ENSG00000162073	ENST00000318782;ENST00000293978	T;T	0.34472	1.52;1.36	4.61	2.46	0.29980	.	0.250386	0.33457	N	0.004899	T	0.31670	0.0804	L	0.46885	1.475	0.80722	D	1	P;B;B	0.35033	0.481;0.004;0.007	B;B;B	0.38842	0.283;0.006;0.017	T	0.06092	-1.0846	10	0.29301	T	0.29	-5.169	10.5849	0.45278	0.3643:0.6357:0.0:0.0	.	45;45;45	Q8N4S7-3;Q8N4S7-2;Q8N4S7	.;.;PAQR4_HUMAN	V	45	ENSP00000321804:L45V;ENSP00000293978:L45V	ENSP00000293978:L45V	L	+	1	2	PAQR4	2959809	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.923000	0.56469	0.893000	0.36288	0.462000	0.41574	CTG		0.697	PAQR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250966.1	NM_152341		3	38	0	0	0	1	0	3	38					G	3019808	C	G	3019808	3	3	258	1	0	0	0	0	1	0	0	0	11437	680	24	5	135	5	PAQR4	16	3019808	Missense_Mutation	SNP	C	TCGA-HI-7168-01A-11D-2114-08	1463491	3019808	87334945	40	12133											
PAQR4	124222	broad.mit.edu	37	chr16	3021853	3021853	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tggggcaactcccaccagatCatgcacctgctgagcgtggg	8	7	13	13	1	1	2	1	1	0	1	2	2	2	2	3	3	4	3	3	3	1	0	rs570979634		TCGA-HI-7168-01A-11D-2114-08	TCGA-HI-7168-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1706aa-9a73-4b24-b51d-56d3764ea665	0c6efb93-b45f-4607-a8cf-c8b24859ad5d	g.chr16:3021853C>T	ENST00000318782.8	+	3	1156	c.726C>T	c.(724-726)atC>atT	p.I242I	PKMYT1_ENST00000571102.1_5'Flank|PAQR4_ENST00000572687.1_Silent_p.I168I|PAQR4_ENST00000576565.1_Silent_p.I175I|PAQR4_ENST00000293978.8_Silent_p.I203I|PAQR4_ENST00000574988.1_Silent_p.I175I|PKMYT1_ENST00000431515.2_Intron	NM_001284513.1|NM_152341.3	NP_001271442.1|NP_689554.2	Q8N4S7	PAQR4_HUMAN	progestin and adipoQ receptor family member IV	242						integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	8						CCCACCAGATCATGCACCTGC	0.677																																						ENST00000318782.8																			0				kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	8						c.(724-726)atC>atT		progestin and adipoQ receptor family member IV							40	43	42					16																	3021853		2197	4300	6497	SO:0001819	synonymous_variant	124222					integral to membrane	receptor activity	g.chr16:3021853C>T		CCDS10485.1, CCDS66911.1, CCDS66912.1, CCDS73814.1	16p13	2008-05-02			ENSG00000162073	ENSG00000162073			26386	protein-coding gene	gene with protein product		614578				12477932	Standard	XM_005255112		Approved	FLJ30002	uc002csj.4	Q8N4S7	OTTHUMG00000128977	ENST00000318782.8:c.726C>T	16.37:g.3021853C>T						PAQR4_ENST00000576565.1_Silent_p.I175I|PAQR4_ENST00000572687.1_Silent_p.I168I|PAQR4_ENST00000293978.8_Silent_p.I203I|PAQR4_ENST00000574988.1_Silent_p.I175I|PKMYT1_ENST00000431515.2_Intron	p.I242I	NM_152341.3	NP_689554.2	Q8N4S7	PAQR4_HUMAN			3	1156	+			242					A8K5Q8|D3DUA2|D3DUA3|Q8NAS6|Q96NW1	Silent	SNP	ENST00000318782.8	37	c.726C>T	CCDS10485.1																																																																																				0.677	PAQR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250966.1	NM_152341		7	39	0	0	0	1	0	7	39					T	3021853	C	T	3021853	2	4	258	1	0	0	0	0	0	0	0	1	11437	816	29	3		3	PAQR4	16	3021853	Silent	SNP	C	TCGA-HI-7168-01A-11D-2114-08	2045	3021853	87332900	41	12134											
COQ7	10229	broad.mit.edu	37	chr16	19089458	19089458	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggccggatgcagagtggcgaTatatttatcagaaagattat	13	11	12	5	2	1	3	1	0	0	3	1	5	1	4	1	3	1	1	1	3	5	5			TCGA-HI-7168-01A-11D-2114-08	TCGA-HI-7168-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1706aa-9a73-4b24-b51d-56d3764ea665	0c6efb93-b45f-4607-a8cf-c8b24859ad5d	g.chr16:19089458T>C	ENST00000321998.5	+	6	698	c.632T>C	c.(631-633)aTa>aCa	p.I211T	COQ7_ENST00000544894.2_Missense_Mutation_p.I173T|COQ7_ENST00000569127.1_Missense_Mutation_p.I188T|COQ7_ENST00000568985.1_Missense_Mutation_p.I211T	NM_016138.4	NP_057222.2	Q99807	COQ7_HUMAN	coenzyme Q7 homolog, ubiquinone (yeast)	211	2 X approximate tandem repeats.				age-dependent response to oxidative stress (GO:0001306)|cellular response to oxidative stress (GO:0034599)|determination of adult lifespan (GO:0008340)|in utero embryonic development (GO:0001701)|mitochondrial ATP synthesis coupled electron transport (GO:0042775)|mitochondrion morphogenesis (GO:0070584)|neural tube formation (GO:0001841)|neurogenesis (GO:0022008)|small molecule metabolic process (GO:0044281)|ubiquinone biosynthetic process (GO:0006744)	mitochondrial inner membrane (GO:0005743)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			breast(1)|large_intestine(1)|lung(3)|prostate(1)|skin(3)|urinary_tract(1)	10						AGAGTGGCGATATATTTATCA	0.388																																						ENST00000321998.5																			0				breast(1)|large_intestine(1)|lung(3)|prostate(1)|skin(3)|urinary_tract(1)	10						c.(631-633)aTa>aCa		coenzyme Q7 homolog, ubiquinone (yeast)							113	104	107					16																	19089458		2197	4300	6497	SO:0001583	missense	10229				ubiquinone biosynthetic process	mitochondrial inner membrane|nucleus	oxidoreductase activity|transition metal ion binding	g.chr16:19089458T>C	U81276	CCDS10574.1, CCDS53993.1	16p12.3	2008-05-14	2001-11-28		ENSG00000167186	ENSG00000167186			2244	protein-coding gene	gene with protein product		601683	"coenzyme Q, 7 (rat, yeast) homolog"			9020081, 10373325	Standard	NM_016138		Approved	CLK-1, CAT5	uc002dfr.3	Q99807	OTTHUMG00000131455	ENST00000321998.5:c.632T>C	16.37:g.19089458T>C	ENSP00000322316:p.Ile211Thr					COQ7_ENST00000544894.2_Missense_Mutation_p.I173T|COQ7_ENST00000568985.1_Missense_Mutation_p.I211T|COQ7_ENST00000569127.1_Missense_Mutation_p.I188T	p.I211T	NM_016138.4	NP_057222.2	Q99807	COQ7_HUMAN			6	698	+			211			2 X approximate tandem repeats.		B2RDA9|Q9BTT7|Q9H0T5|Q9UEW5|Q9UNR5	Missense_Mutation	SNP	ENST00000321998.5	37	c.632T>C	CCDS10574.1	.	.	.	.	.	.	.	.	.	.	T	15.94	2.981235	0.53827	.	.	ENSG00000167186	ENST00000321998;ENST00000544894	T;T	0.60424	0.19;0.19	5.33	5.33	0.75918	.	0.039673	0.85682	D	0.000000	D	0.82328	0.5013	H	0.96175	3.78	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.79108	0.987;0.992	D	0.85360	0.1107	10	0.29301	T	0.29	-13.7839	14.9797	0.71303	0.0:0.0:0.0:1.0	.	188;211	Q49A71;Q99807	.;COQ7_HUMAN	T	211;173	ENSP00000322316:I211T;ENSP00000442923:I173T	ENSP00000322316:I211T	I	+	2	0	COQ7	18996959	1.000000	0.71417	0.435000	0.26784	0.223000	0.24884	6.321000	0.72881	2.008000	0.58898	0.482000	0.46254	ATA		0.388	COQ7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254275.3	NM_016138		8	47	0	0	0	1	0	8	47					C	19089458	T	C	19089458	3	2	258	1	0	0	0	0	1	0	0	0	3750	1406	49	4	654	4	COQ7	16	19089458	Missense_Mutation	SNP	T	TCGA-HI-7168-01A-11D-2114-08	16067605	19089458	71265295	42	12135											
USP31	57478	broad.mit.edu	37	chr16	23080883	23080883	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ggctggtgacagaagatctgGatgacaaactctgacgctgg	11	8	14	8	1	2	5	0	3	2	2	2	6	2	6	0	4	1	2	0	4	2	0			TCGA-HI-7168-01A-11D-2114-08	TCGA-HI-7168-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1706aa-9a73-4b24-b51d-56d3764ea665	0c6efb93-b45f-4607-a8cf-c8b24859ad5d	g.chr16:23080883G>A	ENST00000219689.7	-	16	2542	c.2543C>T	c.(2542-2544)tCc>tTc	p.S848F	USP31_ENST00000567975.1_Missense_Mutation_p.S141F	NM_020718.3	NP_065769.3	Q86UV5	UBP48_HUMAN	ubiquitin specific peptidase 31	0					ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ubiquitin-specific protease activity (GO:0004843)			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	57				GBM - Glioblastoma multiforme(48;0.0187)		AGAAGATCTGGATGACAAACT	0.468																																						ENST00000219689.7																			0				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	57						c.(2542-2544)tCc>tTc		ubiquitin specific peptidase 31							44	39	40					16																	23080883		2197	4300	6497	SO:0001583	missense	57478				ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr16:23080883G>A	AB033029	CCDS10607.1	16p12.3	2008-02-05	2005-08-08		ENSG00000103404	ENSG00000103404		"Ubiquitin-specific peptidases"	20060	protein-coding gene	gene with protein product			"ubiquitin specific protease 31"			12838346	Standard	NM_020718		Approved	KIAA1203	uc002dll.3	Q70CQ4	OTTHUMG00000094793	ENST00000219689.7:c.2543C>T	16.37:g.23080883G>A	ENSP00000219689:p.Ser848Phe					USP31_ENST00000567975.1_Missense_Mutation_p.S141F	p.S848F	NM_020718.3	NP_065769.3	Q70CQ4	UBP31_HUMAN		GBM - Glioblastoma multiforme(48;0.0187)	16	2542	-			848			Ser-rich.		B7ZKS7|Q2M3I4|Q5SZI4|Q5T3T5|Q6NX53|Q8N3F6|Q96F64|Q96IQ3|Q9H5N3|Q9H5T7|Q9NUJ6|Q9NXR0	Missense_Mutation	SNP	ENST00000219689.7	37	c.2543C>T	CCDS10607.1	.	.	.	.	.	.	.	.	.	.	G	16.50	3.140117	0.56936	.	.	ENSG00000103404	ENST00000219689;ENST00000381162	T	0.10099	2.91	6.16	5.19	0.71726	.	0.155509	0.44902	D	0.000417	T	0.29355	0.0731	M	0.61703	1.905	0.80722	D	1	D;D;D	0.71674	0.993;0.998;0.998	P;D;D	0.66351	0.884;0.943;0.917	T	0.01375	-1.1371	10	0.39692	T	0.17	-11.6848	16.5774	0.84705	0.0:0.1302:0.8698:0.0	.	151;848;141	Q70CQ4-2;Q70CQ4;B3KS48	.;UBP31_HUMAN;.	F	848;151	ENSP00000219689:S848F	ENSP00000219689:S848F	S	-	2	0	USP31	22988384	1.000000	0.71417	0.998000	0.56505	0.958000	0.62258	7.607000	0.82883	1.574000	0.49760	0.650000	0.86243	TCC		0.468	USP31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211607.1	NM_020718		9	49	0	0	0	1	0	9	49					A	23080883	G	A	23080883	3	1	258	1	0	0	0	0	1	0	0	0	17059	1174	41	3	1519	3	USP31	16	23080883	Missense_Mutation	SNP	G	TCGA-HI-7168-01A-11D-2114-08	3991425	23080883	67273870	43	12136											
SCNN1B	6338	broad.mit.edu	37	chr16	23364121	23364121	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	accagccctctccccatccaGgtattccaaaatcaagcatt	12	9	4	16	0	2	0	1	0	1	0	5	0	4	0	6	1	2	2	6	1	4	3			TCGA-HI-7168-01A-11D-2114-08	TCGA-HI-7168-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1706aa-9a73-4b24-b51d-56d3764ea665	0c6efb93-b45f-4607-a8cf-c8b24859ad5d	g.chr16:23364121G>T	ENST00000343070.2	+	3	487		c.e3-1		SCNN1B_ENST00000569789.1_Splice_Site|SCNN1B_ENST00000568085.1_Splice_Site|SCNN1B_ENST00000307331.5_Splice_Site|SCNN1B_ENST00000568923.1_Splice_Site	NM_000336.2	NP_000327.2	P51168	SCNNB_HUMAN	sodium channel, non-voltage-gated 1, beta subunit						excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|multicellular organismal water homeostasis (GO:0050891)|response to stimulus (GO:0050896)|sensory perception of taste (GO:0050909)|sodium ion homeostasis (GO:0055078)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|sodium channel complex (GO:0034706)	ligand-gated sodium channel activity (GO:0015280)|WW domain binding (GO:0050699)			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	32				GBM - Glioblastoma multiforme(48;0.0465)	Amiloride(DB00594)|Triamterene(DB00384)	TCCCCATCCAGGTATTCCAAA	0.502																																						ENST00000343070.2																			0				breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	32						c.e3-1		sodium channel, non-voltage-gated 1, beta subunit	Amiloride(DB00594)|Triamterene(DB00384)						78	77	78					16																	23364121		2197	4300	6497	SO:0001630	splice_region_variant	0				excretion|sensory perception of taste	apical plasma membrane	ligand-gated sodium channel activity|WW domain binding	g.chr16:23364121G>T	X87159	CCDS10609.1	16p12.2-p12.1	2012-02-28	2012-02-28		ENSG00000168447	ENSG00000168447		"Ion channels / Sodium channel, nonvoltage-gated", "Sodium channels"	10600	protein-coding gene	gene with protein product	"Liddle syndrome"	600760	"sodium channel, nonvoltage-gated 1, beta", "sodium channel, non-voltage-gated 1, beta"				Standard	NM_000336		Approved	ENaCbeta	uc002dln.3	P51168	OTTHUMG00000131608	ENST00000343070.2:c.312-1G>T	16.37:g.23364121G>T						SCNN1B_ENST00000568923.1_Splice_Site|SCNN1B_ENST00000307331.5_Splice_Site|SCNN1B_ENST00000569789.1_Splice_Site|SCNN1B_ENST00000568085.1_Splice_Site		NM_000336.2	NP_000327.2	P51168	SCNNB_HUMAN		GBM - Glioblastoma multiforme(48;0.0465)	3	487	+								C5HTZ2|O60891|Q96KG2|Q9UJ32|Q9UMU5	Splice_Site	SNP	ENST00000343070.2	37		CCDS10609.1	.	.	.	.	.	.	.	.	.	.	G	17.41	3.381879	0.61845	.	.	ENSG00000168447	ENST00000343070;ENST00000307331	.	.	.	4.86	4.86	0.63082	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.9864	0.86340	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SCNN1B	23271622	1.000000	0.71417	1.000000	0.80357	0.857000	0.48899	6.199000	0.72112	2.220000	0.72140	0.462000	0.41574	.		0.502	SCNN1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254495.2		Intron	8	104	1	0	0.00621372	1	0.00636166	8	104					T	23364121	G	T	23364121	5	4	258	1	0	0	0	0	0	0	1	0	13928	1014	35	5	317	5	SCNN1B	16	23364121	Splice_Site	SNP	G	TCGA-HI-7168-01A-11D-2114-08	283238	23364121	66990632	44	12137											
KRTAP4-9	100132386	broad.mit.edu	37	chr17	39261949	39261949	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cctgcgtgctgccaacccacTtgctgtcgccccagctgctg	4	9	10	18	2	0	0	0	0	0	0	1	0	0	0	5	0	7	4	5	0	1	1	rs7212474	byFrequency	TCGA-HI-7168-01A-11D-2114-08	TCGA-HI-7168-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1706aa-9a73-4b24-b51d-56d3764ea665	0c6efb93-b45f-4607-a8cf-c8b24859ad5d	g.chr17:39261949T>C	ENST00000391415.1	+	1	366	c.309T>C	c.(307-309)acT>acC	p.T103T		NM_001146041.1	NP_001139513.1	Q9BYQ8	KRA49_HUMAN	keratin associated protein 4-9	103	29 X 5 AA repeats of C-C-[RQVHIEK]- [SPTR]-[VSTQCRNP].				aging (GO:0007568)|hair cycle (GO:0042633)	keratin filament (GO:0045095)				central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|urinary_tract(3)	14						GCCAACCCACTTGCTGTCGCC	0.652													C|||	3329	0.664736	0.9486	0.6441	5008	,	,		15848	0.4038		0.6869	False		,,,				2504	0.5419					ENST00000391415.1																			0				central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|urinary_tract(3)	14						c.(307-309)acT>acC		keratin associated protein 4-9							12	22	19					17																	39261949		681	1589	2270	SO:0001819	synonymous_variant	100132386					keratin filament		g.chr17:39261949T>C	AJ406941	CCDS54124.1	17q21.2	2013-06-25			ENSG00000212722	ENSG00000212722		"Keratin associated proteins"	18910	protein-coding gene	gene with protein product							Standard	NM_001146041		Approved	KAP4.9	uc010wfp.2	Q9BYQ8	OTTHUMG00000133584	ENST00000391415.1:c.309T>C	17.37:g.39261949T>C							p.T103T	NM_001146041.1	NP_001139513.1	Q9BYQ8	KRA49_HUMAN			1	366	+			103			29 X 5 AA repeats of C-C-[RQVHIEK]- [SPTR]-[VSTQCRNP].			Silent	SNP	ENST00000391415.1	37	c.309T>C	CCDS54124.1																																																																																				0.652	KRTAP4-9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257688.1	NM_001146041		4	21	0	0	0	1	0	4	21					C	39261949	T	C	39261949	2	2	258	1	0	0	0	0	0	0	0	1	8557	1596	56	4		4	KRTAP4-9	17	39261949	Silent	SNP	T	TCGA-HI-7168-01A-11D-2114-08		39261949	41933261	45	12138											
ITGA2B	3674	broad.mit.edu	37	chr17	42455141	42455141	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctccttcttctgattacaGatgagtctctcaaagccctt	8	16	5	12	0	5	3	1	2	4	1	7	3	5	3	2	0	2	0	2	0	2	5			TCGA-HI-7168-01A-11D-2114-08	TCGA-HI-7168-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1706aa-9a73-4b24-b51d-56d3764ea665	0c6efb93-b45f-4607-a8cf-c8b24859ad5d	g.chr17:42455141G>T	ENST00000262407.5	-	21	2143	c.2112C>A	c.(2110-2112)atC>atA	p.I704I	ITGA2B_ENST00000353281.4_Silent_p.I704I	NM_000419.3	NP_000410.2	P08514	ITA2B_HUMAN	integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41)	704					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of leukocyte migration (GO:0002687)	blood microparticle (GO:0072562)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)|platelet alpha granule membrane (GO:0031092)	extracellular matrix binding (GO:0050840)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)			biliary_tract(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.191)	Abciximab(DB00054)|Tirofiban(DB00775)	TCTGATTACAGATGAGTCTCT	0.478																																						ENST00000262407.5																			0				biliary_tract(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						c.(2110-2112)atC>atA		integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41)	Tirofiban(DB00775)						79	70	73					17																	42455141		2203	4300	6503	SO:0001819	synonymous_variant	3674				axon guidance|integrin-mediated signaling pathway|platelet activation|platelet degranulation	integrin complex|platelet alpha granule membrane	identical protein binding|receptor activity	g.chr17:42455141G>T		CCDS32665.1	17q21.32	2014-09-17	2006-02-22			ENSG00000005961		"CD molecules", "Integrins"	6138	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 93"	607759	"integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41B)"	GP2B			Standard	NM_000419		Approved	CD41B, CD41, PPP1R93	uc002igt.1	P08514		ENST00000262407.5:c.2112C>A	17.37:g.42455141G>T						ITGA2B_ENST00000353281.4_Silent_p.I704I	p.I704I	NM_000419.3	NP_000410.2	P08514	ITA2B_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.191)	21	2143	-		Prostate(33;0.0181)	704					B2RCY8|O95366|Q14443|Q17R67	Silent	SNP	ENST00000262407.5	37	c.2112C>A	CCDS32665.1																																																																																				0.478	ITGA2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439823.1			7	52	1	0	0.00448238	1	0.00475907	7	52					T	42455141	G	T	42455141	2	4	258	1	0	0	0	0	0	0	0	1	7876	932	33	5		5	ITGA2B	17	42455141	Silent	SNP	G	TCGA-HI-7168-01A-11D-2114-08	3193192	42455141	38740069	46	12139											
MKS1	54903	broad.mit.edu	37	chr17	56291167	56291167	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtgaagtcaggctttactgtGatcacaccattgctatccac	10	12	8	11	0	2	2	2	2	0	0	3	2	3	2	2	1	2	2	2	1	3	4			TCGA-HI-7168-01A-11D-2114-08	TCGA-HI-7168-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1706aa-9a73-4b24-b51d-56d3764ea665	0c6efb93-b45f-4607-a8cf-c8b24859ad5d	g.chr17:56291167G>C	ENST00000393119.2	-	7	782	c.708C>G	c.(706-708)atC>atG	p.I236M	MKS1_ENST00000546108.1_Missense_Mutation_p.I33M|MKS1_ENST00000537529.2_Missense_Mutation_p.I226M|MKS1_ENST00000313863.6_Missense_Mutation_p.I236M|MKS1_ENST00000337050.7_Missense_Mutation_p.I236M	NM_017777.3	NP_060247.2	Q9NXB0	MKS1_HUMAN	Meckel syndrome, type 1	236					branching morphogenesis of an epithelial tube (GO:0048754)|cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|membrane (GO:0016020)|TCTN-B9D complex (GO:0036038)				endometrium(5)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	26						GCTTTACTGTGATCACACCAT	0.478																																						ENST00000393119.2																			0				endometrium(5)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	26						c.(706-708)atC>atG		Meckel syndrome, type 1							169	164	166					17																	56291167		1975	4165	6140	SO:0001583	missense	54903				cilium assembly	centrosome|cilium|microtubule basal body	protein binding	g.chr17:56291167G>C	DQ185029	CCDS11603.2, CCDS54148.1	17q21-q24	2014-09-17			ENSG00000011143	ENSG00000011143			7121	protein-coding gene	gene with protein product	"POC12 centriolar protein homolog (Chlamydomonas)"	609883		MKS		7550354, 16415886, 18327255	Standard	NM_017777		Approved	FLJ20345, POC12, BBS13	uc002ivr.2	Q9NXB0	OTTHUMG00000133714	ENST00000393119.2:c.708C>G	17.37:g.56291167G>C	ENSP00000376827:p.Ile236Met					MKS1_ENST00000537529.2_Missense_Mutation_p.I226M|MKS1_ENST00000313863.6_Missense_Mutation_p.I236M|MKS1_ENST00000546108.1_Missense_Mutation_p.I33M|MKS1_ENST00000337050.7_Missense_Mutation_p.I236M	p.I236M	NM_017777.3	NP_060247.2	Q9NXB0	MKS1_HUMAN			7	782	-			236					B7WNX4|F5H885|Q284T0|Q96G13	Missense_Mutation	SNP	ENST00000393119.2	37	c.708C>G	CCDS11603.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.80|19.80	3.895248|3.895248	0.72639|0.72639	.|.	.|.	ENSG00000011143|ENSG00000011143	ENST00000537529;ENST00000393120;ENST00000393119;ENST00000337050;ENST00000546108|ENST00000313863	T;T;T;T|.	0.76060|.	-0.57;-0.57;-0.33;-0.99|.	6.01|6.01	6.01|6.01	0.97437|0.97437	.|.	0.196469|.	0.53938|.	D|.	0.000055|.	T|.	0.73133|.	0.3548|.	L|L	0.56769|0.56769	1.78|1.78	0.58432|0.58432	D|D	0.999992|0.999992	D;P|.	0.53312|.	0.959;0.668|.	P;B|.	0.49887|.	0.625;0.323|.	T|.	0.68454|.	-0.5404|.	10|.	0.51188|.	T|.	0.08|.	-13.256|-13.256	19.0799|19.0799	0.93178|0.93178	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	236;236|.	A8MPP8;Q9NXB0|.	.;MKS1_HUMAN|.	M|X	226;236;236;236;33|237	ENSP00000442096:I226M;ENSP00000376827:I236M;ENSP00000338407:I236M;ENSP00000443012:I33M|.	ENSP00000338407:I236M|.	I|S	-|-	3|2	3|0	MKS1|MKS1	53646166|53646166	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	2.832000|2.832000	0.48152|0.48152	2.852000|2.852000	0.98041|0.98041	0.643000|0.643000	0.83706|0.83706	ATC|TCA		0.478	MKS1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258015.2	NM_017777		28	37	0	0	0	1	0	28	37					C	56291167	G	C	56291167	3	2	258	1	0	0	0	0	1	0	0	0	9609	1280	45	5	1019	5	MKS1	17	56291167	Missense_Mutation	SNP	G	TCGA-HI-7168-01A-11D-2114-08	13836026	56291167	24904043	47	12140											
PRKCA	5578	broad.mit.edu	37	chr17	64683317	64683317	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttattcctgatcccaagaaTgaaagcaagcaaaaaaccaa	19	7	5	10	0	0	3	0	2	0	1	2	3	2	3	3	0	3	2	3	0	9	2			TCGA-HI-7168-01A-11D-2114-08	TCGA-HI-7168-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1706aa-9a73-4b24-b51d-56d3764ea665	0c6efb93-b45f-4607-a8cf-c8b24859ad5d	g.chr17:64683317T>A	ENST00000413366.3	+	6	644	c.618T>A	c.(616-618)aaT>aaA	p.N206K		NM_002737.2	NP_002728	P17252	KPCA_HUMAN	protein kinase C, alpha	206	C2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				activation of adenylate cyclase activity (GO:0007190)|activation of phospholipase C activity (GO:0007202)|angiogenesis (GO:0001525)|apoptotic signaling pathway (GO:0097190)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cellular calcium ion homeostasis (GO:0006874)|cellular response to carbohydrate stimulus (GO:0071322)|chondrocyte differentiation (GO:0002062)|desmosome assembly (GO:0002159)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|extracellular matrix organization (GO:0030198)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|histone H3-T6 phosphorylation (GO:0035408)|inactivation of MAPK activity (GO:0000188)|induction of positive chemotaxis (GO:0050930)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway (GO:0097193)|mRNA metabolic process (GO:0016071)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of cell proliferation (GO:0008285)|negative regulation of glial cell apoptotic process (GO:0034351)|negative regulation of glucose import (GO:0046325)|negative regulation of insulin receptor signaling pathway (GO:0046627)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil chemotaxis (GO:0030593)|peptidyl-serine autophosphorylation (GO:0036289)|phototransduction, visible light (GO:0007603)|platelet activation (GO:0030168)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell migration (GO:0030335)|positive regulation of dense core granule biogenesis (GO:2000707)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of inflammatory response (GO:0050729)|positive regulation of lipopolysaccharide-mediated signaling pathway (GO:0031666)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of protein phosphorylation (GO:0001934)|protein phosphorylation (GO:0006468)|regulation of insulin secretion (GO:0050796)|regulation of muscle contraction (GO:0006937)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|regulation of platelet aggregation (GO:0090330)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|regulation of the force of heart contraction (GO:0002026)|response to interleukin-1 (GO:0070555)|rhodopsin mediated signaling pathway (GO:0016056)|RNA metabolic process (GO:0016070)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)|nucleoplasm (GO:0005654)|perinuclear region of cytoplasm (GO:0048471)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium-dependent protein kinase C activity (GO:0004698)|enzyme binding (GO:0019899)|histone kinase activity (H3-T6 specific) (GO:0035403)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	38			BRCA - Breast invasive adenocarcinoma(6;4.68e-09)		Ingenol Mebutate(DB05013)|Phosphatidylserine(DB00144)|Tamoxifen(DB00675)|Vitamin E(DB00163)	ATCCCAAGAATGAAAGCAAGC	0.408																																						ENST00000413366.3																			0				breast(3)|central_nervous_system(4)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	38						c.(616-618)aaT>aaA		protein kinase C, alpha	Phosphatidylserine(DB00144)|Vitamin E(DB00163)						159	162	161					17																	64683317		2203	4300	6503	SO:0001583	missense	5578				activation of phospholipase C activity|energy reserve metabolic process|induction of apoptosis by extracellular signals|intracellular signal transduction|mRNA metabolic process|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of blood vessel endothelial cell migration|regulation of insulin secretion|response to interleukin-1|synaptic transmission	cytosol|endoplasmic reticulum|membrane fraction|nucleoplasm|plasma membrane	ATP binding|enzyme binding|histone kinase activity (H3-T6 specific)|protein kinase C activity|zinc ion binding	g.chr17:64683317T>A		CCDS11664.1	17q22-q24	2009-07-10				ENSG00000154229	2.7.11.1		9393	protein-coding gene	gene with protein product		176960		PKCA			Standard	NM_002737		Approved		uc002jfp.1	P17252		ENST00000413366.3:c.618T>A	17.37:g.64683317T>A	ENSP00000408695:p.Asn206Lys						p.N206K	NM_002737.2	NP_002728.1	P17252	KPCA_HUMAN	BRCA - Breast invasive adenocarcinoma(6;4.68e-09)		6	644	+			206			C2.		B5BU22|Q15137|Q32M72|Q96RE4	Missense_Mutation	SNP	ENST00000413366.3	37	c.618T>A	CCDS11664.1	.	.	.	.	.	.	.	.	.	.	T	11.93	1.786350	0.31593	.	.	ENSG00000154229	ENST00000413366;ENST00000284384	T	0.40225	1.04	4.98	-0.0522	0.13823	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	U	0.000000	T	0.15825	0.0381	N	0.02345	-0.59	0.53688	D	0.999972	B;B	0.18863	0.001;0.031	B;B	0.21708	0.006;0.036	T	0.09662	-1.0664	10	0.19590	T	0.45	.	9.4334	0.38624	0.0:0.3899:0.0:0.6101	.	206;117	P17252;Q59FI5	KPCA_HUMAN;.	K	206;113	ENSP00000408695:N206K	ENSP00000284384:N113K	N	+	3	2	PRKCA	62113779	0.284000	0.24287	0.995000	0.50966	0.899000	0.52679	-0.380000	0.07427	-0.352000	0.08237	-0.736000	0.03550	AAT		0.408	PRKCA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446976.1			62	124	0	0	0	1	0	62	124					A	64683317	T	A	64683317	3	1	258	1	0	0	0	0	1	0	0	0	12507	1461	51	5	640	5	PRKCA	17	64683317	Missense_Mutation	SNP	T	TCGA-HI-7168-01A-11D-2114-08	8392150	64683317	16511893	48	12141											
ABCA5	23461	broad.mit.edu	37	chr17	67300814	67300814	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aagttaaaatacttacagatGataatccataaaggaaaaaa	23	9	5	4	0	0	2	0	1	0	1	1	3	1	3	1	1	2	1	1	1	11	5			TCGA-HI-7168-01A-11D-2114-08	TCGA-HI-7168-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1706aa-9a73-4b24-b51d-56d3764ea665	0c6efb93-b45f-4607-a8cf-c8b24859ad5d	g.chr17:67300814G>A	ENST00000392676.3	-	7	990	c.926C>T	c.(925-927)tCa>tTa	p.S309L	ABCA5_ENST00000588877.1_Missense_Mutation_p.S309L|ABCA5_ENST00000392677.2_Missense_Mutation_p.S309L			Q8WWZ7	ABCA5_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 5	309					cholesterol efflux (GO:0033344)|high-density lipoprotein particle remodeling (GO:0034375)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|reverse cholesterol transport (GO:0043691)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|lysosome (GO:0005764)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(18)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	54	Breast(10;3.72e-11)				Tacrolimus(DB00864)	ACTTACAGATGATAATCCATA	0.323																																						ENST00000392676.3																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(18)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	54						c.(925-927)tCa>tTa		ATP-binding cassette, sub-family A (ABC1), member 5							33	32	32					17																	67300814		2202	4296	6498	SO:0001583	missense	23461				cholesterol efflux|high-density lipoprotein particle remodeling|negative regulation of macrophage derived foam cell differentiation	Golgi membrane|integral to membrane|late endosome membrane|lysosomal membrane	ATP binding|ATPase activity	g.chr17:67300814G>A	U66672	CCDS11685.1	17q24.3	2012-03-14			ENSG00000154265	ENSG00000154265		"ATP binding cassette transporters / subfamily A"	35	protein-coding gene	gene with protein product		612503				8894702	Standard	NM_172232		Approved	EST90625	uc002jig.2	Q8WWZ7		ENST00000392676.3:c.926C>T	17.37:g.67300814G>A	ENSP00000376443:p.Ser309Leu					ABCA5_ENST00000392677.2_Missense_Mutation_p.S309L|ABCA5_ENST00000588877.1_Missense_Mutation_p.S309L	p.S309L			Q8WWZ7	ABCA5_HUMAN			7	990	-	Breast(10;3.72e-11)		309					Q8IVJ2|Q96LJ1|Q96MS4|Q96PZ9|Q9NY14	Missense_Mutation	SNP	ENST00000392676.3	37	c.926C>T	CCDS11685.1	.	.	.	.	.	.	.	.	.	.	G	30	5.051192	0.93740	.	.	ENSG00000154265	ENST00000392677;ENST00000392676	D;D	0.88741	-2.42;-2.42	5.13	5.13	0.70059	.	0.238434	0.29775	N	0.011224	D	0.95284	0.8470	M	0.87682	2.9	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	D	0.95562	0.8630	9	.	.	.	.	18.6555	0.91452	0.0:0.0:1.0:0.0	.	309;309	Q8WWZ7-2;Q8WWZ7	.;ABCA5_HUMAN	L	309	ENSP00000376444:S309L;ENSP00000376443:S309L	.	S	-	2	0	ABCA5	64812409	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.884000	0.75600	2.381000	0.81170	0.558000	0.71614	TCA		0.323	ABCA5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000450654.1	NM_018672		5	34	0	0	0	1	0	5	34					A	67300814	G	A	67300814	3	1	258	1	0	0	0	0	1	0	0	0	35	1294	45	3	4134	3	ABCA5	17	67300814	Missense_Mutation	SNP	G	TCGA-HI-7168-01A-11D-2114-08	2617497	67300814	13894396	49	12142			1	31		4	4	8492	G		6.628432e-07
ABCA5	23461	broad.mit.edu	37	chr17	67300891	67300891	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aacaaagaagctgtcgcaatGactgccataagaagggacat	17	6	10	8	1	0	3	0	1	0	2	1	4	0	4	1	1	3	2	1	1	6	1			TCGA-HI-7168-01A-11D-2114-08	TCGA-HI-7168-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1706aa-9a73-4b24-b51d-56d3764ea665	0c6efb93-b45f-4607-a8cf-c8b24859ad5d	g.chr17:67300891G>C	ENST00000392676.3	-	7	913	c.849C>G	c.(847-849)gtC>gtG	p.V283V	ABCA5_ENST00000588877.1_Silent_p.V283V|ABCA5_ENST00000392677.2_Silent_p.V283V			Q8WWZ7	ABCA5_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 5	283					cholesterol efflux (GO:0033344)|high-density lipoprotein particle remodeling (GO:0034375)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|reverse cholesterol transport (GO:0043691)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|lysosome (GO:0005764)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(18)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	54	Breast(10;3.72e-11)				Tacrolimus(DB00864)	CTGTCGCAATGACTGCCATAA	0.323																																						ENST00000392676.3																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(18)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	54						c.(847-849)gtC>gtG		ATP-binding cassette, sub-family A (ABC1), member 5							72	73	73					17																	67300891		2203	4294	6497	SO:0001819	synonymous_variant	23461				cholesterol efflux|high-density lipoprotein particle remodeling|negative regulation of macrophage derived foam cell differentiation	Golgi membrane|integral to membrane|late endosome membrane|lysosomal membrane	ATP binding|ATPase activity	g.chr17:67300891G>C	U66672	CCDS11685.1	17q24.3	2012-03-14			ENSG00000154265	ENSG00000154265		"ATP binding cassette transporters / subfamily A"	35	protein-coding gene	gene with protein product		612503				8894702	Standard	NM_172232		Approved	EST90625	uc002jig.2	Q8WWZ7		ENST00000392676.3:c.849C>G	17.37:g.67300891G>C						ABCA5_ENST00000392677.2_Silent_p.V283V|ABCA5_ENST00000588877.1_Silent_p.V283V	p.V283V			Q8WWZ7	ABCA5_HUMAN			7	913	-	Breast(10;3.72e-11)		283					Q8IVJ2|Q96LJ1|Q96MS4|Q96PZ9|Q9NY14	Silent	SNP	ENST00000392676.3	37	c.849C>G	CCDS11685.1																																																																																				0.323	ABCA5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000450654.1	NM_018672		13	73	0	0	0	1	0	13	73					C	67300891	G	C	67300891	2	2	258	1	0	0	0	0	0	0	0	1	35	1277	45	5		5	ABCA5	17	67300891	Silent	SNP	G	TCGA-HI-7168-01A-11D-2114-08	77	67300891	13894319	50	12143			1	31		4	4	8492	G		6.628432e-07
ABCA5	23461	broad.mit.edu	37	chr17	67309242	67309242	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gctcacaataccatcaggtaGatgatcagtagacactttct	13	11	7	10	0	4	3	3	1	1	2	4	3	4	3	1	1	1	3	1	1	4	4			TCGA-HI-7168-01A-11D-2114-08	TCGA-HI-7168-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1706aa-9a73-4b24-b51d-56d3764ea665	0c6efb93-b45f-4607-a8cf-c8b24859ad5d	g.chr17:67309242G>C	ENST00000392676.3	-	3	362	c.298C>G	c.(298-300)Cta>Gta	p.L100V	ABCA5_ENST00000588877.1_Missense_Mutation_p.L100V|ABCA5_ENST00000392677.2_Missense_Mutation_p.L100V			Q8WWZ7	ABCA5_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 5	100					cholesterol efflux (GO:0033344)|high-density lipoprotein particle remodeling (GO:0034375)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|reverse cholesterol transport (GO:0043691)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|lysosome (GO:0005764)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(18)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	54	Breast(10;3.72e-11)				Tacrolimus(DB00864)	CCATCAGGTAGATGATCAGTA	0.313																																						ENST00000392676.3																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(18)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	54						c.(298-300)Cta>Gta		ATP-binding cassette, sub-family A (ABC1), member 5							80	81	81					17																	67309242		2203	4294	6497	SO:0001583	missense	23461				cholesterol efflux|high-density lipoprotein particle remodeling|negative regulation of macrophage derived foam cell differentiation	Golgi membrane|integral to membrane|late endosome membrane|lysosomal membrane	ATP binding|ATPase activity	g.chr17:67309242G>C	U66672	CCDS11685.1	17q24.3	2012-03-14			ENSG00000154265	ENSG00000154265		"ATP binding cassette transporters / subfamily A"	35	protein-coding gene	gene with protein product		612503				8894702	Standard	NM_172232		Approved	EST90625	uc002jig.2	Q8WWZ7		ENST00000392676.3:c.298C>G	17.37:g.67309242G>C	ENSP00000376443:p.Leu100Val					ABCA5_ENST00000392677.2_Missense_Mutation_p.L100V|ABCA5_ENST00000588877.1_Missense_Mutation_p.L100V	p.L100V			Q8WWZ7	ABCA5_HUMAN			3	362	-	Breast(10;3.72e-11)		100					Q8IVJ2|Q96LJ1|Q96MS4|Q96PZ9|Q9NY14	Missense_Mutation	SNP	ENST00000392676.3	37	c.298C>G	CCDS11685.1	.	.	.	.	.	.	.	.	.	.	G	5.170	0.216893	0.09810	.	.	ENSG00000154265	ENST00000392677;ENST00000392676	D;D	0.87412	-2.25;-2.25	5.0	4.03	0.46877	.	0.108732	0.41396	D	0.000900	T	0.79493	0.4455	L	0.38531	1.155	0.26377	N	0.976796	B;P	0.35684	0.43;0.515	B;B	0.37387	0.112;0.248	T	0.68614	-0.5362	9	.	.	.	.	6.9099	0.24329	0.1196:0.0:0.7155:0.1649	.	100;100	Q8WWZ7-2;Q8WWZ7	.;ABCA5_HUMAN	V	100	ENSP00000376444:L100V;ENSP00000376443:L100V	.	L	-	1	2	ABCA5	64820837	1.000000	0.71417	0.367000	0.25926	0.402000	0.30811	3.831000	0.55776	1.096000	0.41439	0.585000	0.79938	CTA		0.313	ABCA5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000450654.1	NM_018672		8	69	0	0	0	1	0	8	69					C	67309242	G	C	67309242	3	2	258	1	0	0	0	0	1	0	0	0	35	933	33	5	4778	5	ABCA5	17	67309242	Missense_Mutation	SNP	G	TCGA-HI-7168-01A-11D-2114-08	8351	67309242	13885968	51	12144			1	31		4	4	8492	G		6.628432e-07
ABCA5	23461	broad.mit.edu	37	chr17	67309305	67309305	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agtcactggagtatatccaaGaattagattagaaagagtaa	18	10	9	4	0	1	4	1	0	0	4	2	5	2	5	1	1	0	2	1	1	8	5			TCGA-HI-7168-01A-11D-2114-08	TCGA-HI-7168-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1706aa-9a73-4b24-b51d-56d3764ea665	0c6efb93-b45f-4607-a8cf-c8b24859ad5d	g.chr17:67309305G>C	ENST00000392676.3	-	3	299	c.235C>G	c.(235-237)Ctt>Gtt	p.L79V	ABCA5_ENST00000588877.1_Missense_Mutation_p.L79V|ABCA5_ENST00000392677.2_Missense_Mutation_p.L79V			Q8WWZ7	ABCA5_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 5	79					cholesterol efflux (GO:0033344)|high-density lipoprotein particle remodeling (GO:0034375)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|reverse cholesterol transport (GO:0043691)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|lysosome (GO:0005764)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(18)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	54	Breast(10;3.72e-11)				Tacrolimus(DB00864)	GTATATCCAAGAATTAGATTA	0.318																																						ENST00000392676.3																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(18)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	54						c.(235-237)Ctt>Gtt		ATP-binding cassette, sub-family A (ABC1), member 5							86	91	89					17																	67309305		2203	4291	6494	SO:0001583	missense	23461				cholesterol efflux|high-density lipoprotein particle remodeling|negative regulation of macrophage derived foam cell differentiation	Golgi membrane|integral to membrane|late endosome membrane|lysosomal membrane	ATP binding|ATPase activity	g.chr17:67309305G>C	U66672	CCDS11685.1	17q24.3	2012-03-14			ENSG00000154265	ENSG00000154265		"ATP binding cassette transporters / subfamily A"	35	protein-coding gene	gene with protein product		612503				8894702	Standard	NM_172232		Approved	EST90625	uc002jig.2	Q8WWZ7		ENST00000392676.3:c.235C>G	17.37:g.67309305G>C	ENSP00000376443:p.Leu79Val					ABCA5_ENST00000392677.2_Missense_Mutation_p.L79V|ABCA5_ENST00000588877.1_Missense_Mutation_p.L79V	p.L79V			Q8WWZ7	ABCA5_HUMAN			3	299	-	Breast(10;3.72e-11)		79					Q8IVJ2|Q96LJ1|Q96MS4|Q96PZ9|Q9NY14	Missense_Mutation	SNP	ENST00000392676.3	37	c.235C>G	CCDS11685.1	.	.	.	.	.	.	.	.	.	.	G	1.970	-0.436801	0.04636	.	.	ENSG00000154265	ENST00000392677;ENST00000392676	T;T	0.44482	0.92;0.92	5.0	2.76	0.32466	.	0.245479	0.29342	N	0.012433	T	0.22003	0.0530	N	0.12637	0.245	0.20926	N	0.999829	B;B	0.14438	0.002;0.01	B;B	0.21708	0.015;0.036	T	0.17653	-1.0362	9	.	.	.	.	8.3682	0.32399	0.0:0.1618:0.4888:0.3493	.	79;79	Q8WWZ7-2;Q8WWZ7	.;ABCA5_HUMAN	V	79	ENSP00000376444:L79V;ENSP00000376443:L79V	.	L	-	1	0	ABCA5	64820900	0.987000	0.35691	0.834000	0.33040	0.791000	0.44710	1.858000	0.39408	1.096000	0.41439	0.585000	0.79938	CTT		0.318	ABCA5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000450654.1	NM_018672		7	66	0	0	0	1	0	7	66					C	67309305	G	C	67309305	3	2	258	1	0	0	0	0	1	0	0	0	35	942	33	5	4841	5	ABCA5	17	67309305	Missense_Mutation	SNP	G	TCGA-HI-7168-01A-11D-2114-08	63	67309305	13885905	52	12145			1	31		4	4	8492	G		6.628432e-07
RAB37	326624	broad.mit.edu	37	chr17	72741156	72741156	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctcccgggcaggagtacggtGttcccttcctggagaccagc	6	8	13	14	2	0	1	0	0	0	1	3	3	3	2	4	4	2	3	4	4	1	3			TCGA-HI-7168-01A-11D-2114-08	TCGA-HI-7168-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1706aa-9a73-4b24-b51d-56d3764ea665	0c6efb93-b45f-4607-a8cf-c8b24859ad5d	g.chr17:72741156G>A	ENST00000392613.5	+	8	555	c.499G>A	c.(499-501)Gtt>Att	p.V167I	RAB37_ENST00000528438.1_Missense_Mutation_p.V140I|RAB37_ENST00000340415.3_Missense_Mutation_p.V160I|RAB37_ENST00000392610.1_Missense_Mutation_p.V167I|RAB37_ENST00000392614.4_Missense_Mutation_p.V172I|RAB37_ENST00000392612.3_Missense_Mutation_p.V130I|MIR3615_ENST00000585285.1_RNA|RAB37_ENST00000402449.4_Missense_Mutation_p.V160I|RAB37_ENST00000392615.5_Missense_Mutation_p.V135I	NM_001006638.2	NP_001006639.1	Q96AX2	RAB37_HUMAN	RAB37, member RAS oncogene family	167					protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|secretory granule (GO:0030141)	GTP binding (GO:0005525)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	12						GGAGTACGGTGTTCCCTTCCT	0.617											OREG0024716	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000340415.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	12						c.(478-480)Gtt>Att		RAB37, member RAS oncogene family							88	78	82					17																	72741156		2203	4300	6503	SO:0001583	missense	326624				protein transport|small GTPase mediated signal transduction	ER-Golgi intermediate compartment	GTP binding	g.chr17:72741156G>A	BC040547	CCDS11703.1, CCDS32722.1, CCDS54161.1, CCDS54162.1	17q25.2	2008-02-05			ENSG00000172794	ENSG00000172794		"RAB, member RAS oncogene"	30268	protein-coding gene	gene with protein product		609956				10722846	Standard	NM_175738		Approved		uc002jlk.3	Q96AX2	OTTHUMG00000134282	ENST00000392613.5:c.499G>A	17.37:g.72741156G>A	ENSP00000376389:p.Val167Ile		OREG0024716	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1139	RAB37_ENST00000392614.4_Missense_Mutation_p.V172I|RAB37_ENST00000392615.5_Missense_Mutation_p.V135I|RAB37_ENST00000392613.5_Missense_Mutation_p.V167I|RAB37_ENST00000392612.3_Missense_Mutation_p.V130I|RAB37_ENST00000392610.1_Missense_Mutation_p.V167I|RAB37_ENST00000528438.1_Missense_Mutation_p.V140I|RAB37_ENST00000402449.4_Missense_Mutation_p.V160I	p.V160I	NM_175738.4	NP_783865.1	Q96AX2	RAB37_HUMAN			8	1487	+			167					A8MXF5|A8MYT0|Q8IWA7	Missense_Mutation	SNP	ENST00000392613.5	37	c.478G>A	CCDS32722.1	.	.	.	.	.	.	.	.	.	.	G	8.301	0.819952	0.16678	.	.	ENSG00000172794	ENST00000340415;ENST00000402449;ENST00000469248;ENST00000528438;ENST00000392615;ENST00000392614;ENST00000392613;ENST00000392612;ENST00000392610	T;T;T;T;T;T;T;T	0.78924	-1.22;-1.22;-1.22;-1.22;-1.22;-1.22;-1.22;-1.22	5.22	5.22	0.72569	Small GTP-binding protein domain (1);	0.064069	0.64402	D	0.000010	T	0.68559	0.3014	N	0.17872	0.535	0.54753	D	0.999981	B;B;B;B;B;B	0.33919	0.187;0.432;0.156;0.128;0.038;0.08	B;B;B;B;B;B	0.42625	0.21;0.393;0.1;0.075;0.079;0.074	T	0.63492	-0.6625	10	0.02654	T	1	.	17.9083	0.88926	0.0:0.0:1.0:0.0	.	130;135;172;160;167;160	A8MXF5;A8MZI4;A8MYT0;Q96AX2-2;Q96AX2;A8MSP2	.;.;.;.;RAB37_HUMAN;.	I	160;160;160;140;135;172;167;130;167	ENSP00000341354:V160I;ENSP00000383934:V160I;ENSP00000432086:V140I;ENSP00000376391:V135I;ENSP00000376390:V172I;ENSP00000376389:V167I;ENSP00000376388:V130I;ENSP00000376387:V167I	ENSP00000341354:V160I	V	+	1	0	RAB37	70252751	1.000000	0.71417	0.948000	0.38648	0.771000	0.43674	6.093000	0.71422	2.598000	0.87819	0.549000	0.68633	GTT		0.617	RAB37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258872.2	NM_175738		7	65	0	0	0	1	0	7	65					A	72741156	G	A	72741156	3	1	258	1	0	0	0	0	1	0	0	0	12927	1377	48	3	832	3	RAB37	17	72741156	Missense_Mutation	SNP	G	TCGA-HI-7168-01A-11D-2114-08	5431851	72741156	8454054	53	12146											
MYOM1	8736	broad.mit.edu	37	chr18	3102500	3102500	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgctttcgacttccaatcGtggagagtcctcagtggata	8	13	10	10	2	1	1	1	0	0	1	5	4	3	2	2	2	1	1	2	2	2	4	rs369979714		TCGA-HI-7168-01A-11D-2114-08	TCGA-HI-7168-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1706aa-9a73-4b24-b51d-56d3764ea665	0c6efb93-b45f-4607-a8cf-c8b24859ad5d	g.chr18:3102500G>A	ENST00000356443.4	-	23	3880	c.3547C>T	c.(3547-3549)Cga>Tga	p.R1183*	MYOM1_ENST00000400569.3_Nonsense_Mutation_p.R1183*|MYOM1_ENST00000261606.7_Nonsense_Mutation_p.R1087*	NM_003803.3|NM_019856.1	NP_003794.3|NP_062830.1	P52179	MYOM1_HUMAN	myomesin 1	1183	Ig-like C2-type 3.				muscle contraction (GO:0006936)	M band (GO:0031430)|striated muscle myosin thick filament (GO:0005863)	identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|structural constituent of muscle (GO:0008307)			NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						ACTTCCAATCGTGGAGAGTCC	0.433																																						ENST00000356443.4																			0				NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						c.(3547-3549)Cga>Tga		myomesin 1		G	stop/ARG,stop/ARG	0,3784		0,0,1892	215	208	210		3547,3259	3.5	0.3	18		210	1,8263		0,1,4131	no	stop-gained,stop-gained	MYOM1	NM_003803.3,NM_019856.1	,	0,1,6023	AA,AG,GG		0.0121,0.0,0.0083	,	1183/1686,1087/1590	3102500	1,12047	1892	4132	6024	SO:0001587	stop_gained	8736					striated muscle myosin thick filament	structural constituent of muscle	g.chr18:3102500G>A	AF185573	CCDS45823.1, CCDS45824.1	18p11.31	2014-09-17	2012-10-17		ENSG00000101605	ENSG00000101605		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	7613	protein-coding gene	gene with protein product	"skelemin"	603508	"myomesin 1 (skelemin) (185kD)", "myomesin 1 (skelemin) 185kDa", "myomesin 1, 185kDa"			9806852	Standard	NM_019856		Approved		uc002klp.3	P52179	OTTHUMG00000178209	ENST00000356443.4:c.3547C>T	18.37:g.3102500G>A	ENSP00000348821:p.Arg1183*					MYOM1_ENST00000261606.7_Nonsense_Mutation_p.R1087*|MYOM1_ENST00000400569.3_Nonsense_Mutation_p.R1183*	p.R1183*	NM_003803.3|NM_019856.1	NP_003794.3|NP_062830.1	P52179	MYOM1_HUMAN			23	3880	-			1183			Ig-like C2-type 3.		Q14BD6|Q6H969|Q6ZUU0	Nonsense_Mutation	SNP	ENST00000356443.4	37	c.3547C>T	CCDS45824.1	.	.	.	.	.	.	.	.	.	.	G	41	9.021984	0.99038	0.0	1.21E-4	ENSG00000101605	ENST00000356443;ENST00000400569;ENST00000261606	.	.	.	5.46	3.52	0.40303	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.3385	0.60530	0.0:0.0:0.5216:0.4784	.	.	.	.	X	1183;1183;1087	.	ENSP00000261606:R1087X	R	-	1	2	MYOM1	3092500	1.000000	0.71417	0.302000	0.25058	0.032000	0.12392	3.195000	0.51013	0.508000	0.28173	0.557000	0.71058	CGA		0.433	MYOM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000441037.2	NM_003803		8	116	0	0	0	1	0	8	116					A	3102500	G	A	3102500	4	1	258	1	0	0	0	0	0	1	0	0	10091	1153	40	1	1574	1	MYOM1	18	3102500	Nonsense_Mutation	SNP	G	TCGA-HI-7168-01A-11D-2114-08		3102500	74974748	54	12147											
ARHGAP28	79822	broad.mit.edu	37	chr18	6896512	6896512	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccttggcagtctgacgtgccGgaaggagtcatacgggtcca	8	8	14	11	3	2	1	1	1	1	0	3	3	3	3	3	4	2	1	3	4	2	2			TCGA-HI-7168-01A-11D-2114-08	TCGA-HI-7168-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1706aa-9a73-4b24-b51d-56d3764ea665	0c6efb93-b45f-4607-a8cf-c8b24859ad5d	g.chr18:6896512G>T	ENST00000383472.4	+	16	2021	c.1917G>T	c.(1915-1917)ccG>ccT	p.P639P	ARHGAP28_ENST00000418986.1_Silent_p.P480P|ARHGAP28_ENST00000400091.2_Silent_p.P639P|ARHGAP28_ENST00000314319.3_Silent_p.P480P|ARHGAP28_ENST00000419673.2_Silent_p.P480P|ARHGAP28_ENST00000532996.1_Silent_p.P462P|ARHGAP28_ENST00000262227.3_Silent_p.P587P|ARHGAP28_ENST00000531294.1_Silent_p.P475P			Q9P2N2	RHG28_HUMAN	Rho GTPase activating protein 28	639					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell junction (GO:0030054)|cytosol (GO:0005829)|nucleus (GO:0005634)	GTPase activator activity (GO:0005096)			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	37		Colorectal(10;0.168)				CTGACGTGCCGGAAGGAGTCA	0.443																																						ENST00000419673.2																			0				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	37						c.(1438-1440)ccG>ccT		Rho GTPase activating protein 28							125	107	113					18																	6896512		2203	4300	6503	SO:0001819	synonymous_variant	79822				signal transduction	intracellular		g.chr18:6896512G>T	BC033668	CCDS32785.1	18p11.23	2011-06-29				ENSG00000088756		"Rho GTPase activating proteins"	25509	protein-coding gene	gene with protein product		610592				10718198	Standard	NM_001010000		Approved	KIAA1314, FLJ10312	uc002kne.3	Q9P2N2		ENST00000383472.4:c.1917G>T	18.37:g.6896512G>T						ARHGAP28_ENST00000418986.1_Silent_p.P480P|ARHGAP28_ENST00000383472.4_Silent_p.P639P|ARHGAP28_ENST00000400091.2_Silent_p.P639P|ARHGAP28_ENST00000314319.3_Silent_p.P480P|ARHGAP28_ENST00000262227.3_Silent_p.P587P|ARHGAP28_ENST00000532996.1_Silent_p.P462P|ARHGAP28_ENST00000531294.1_Silent_p.P475P	p.P480P	NM_001010000.2	NP_001010000.1	B4DXL2	B4DXL2_HUMAN			15	1657	+		Colorectal(10;0.168)	462					A8MQB7|A8MU88|Q6P160|Q8N4T3|Q9NW53	Silent	SNP	ENST00000383472.4	37	c.1440G>T																																																																																					0.443	ARHGAP28-006	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000442123.3	XM_371108		4	27	1	0	0.184627	1	0.184627	4	27					T	6896512	G	T	6896512	2	4	258	1	0	0	0	0	0	0	0	1	877	1103	39	5		5	ARHGAP28	18	6896512	Silent	SNP	G	TCGA-HI-7168-01A-11D-2114-08	3794012	6896512	71180736	55	12148											
PGLYRP2	114770	broad.mit.edu	37	chr19	15586948	15586948	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tatctgcagtggtgacatctGgagagccatccctgagtcct	8	11	11	11	0	2	3	0	2	2	1	4	4	4	3	3	2	2	1	3	2	1	1			TCGA-HI-7168-01A-11D-2114-08	TCGA-HI-7168-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1706aa-9a73-4b24-b51d-56d3764ea665	0c6efb93-b45f-4607-a8cf-c8b24859ad5d	g.chr19:15586948G>T	ENST00000340880.4	-	2	1013	c.533C>A	c.(532-534)cCa>cAa	p.P178Q	PGLYRP2_ENST00000292609.4_Missense_Mutation_p.P178Q	NM_052890.3	NP_443122.3	Q96PD5	PGRP2_HUMAN	peptidoglycan recognition protein 2	178					defense response to Gram-positive bacterium (GO:0050830)|detection of bacterium (GO:0016045)|growth of symbiont in host (GO:0044117)|innate immune response (GO:0045087)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of natural killer cell differentiation involved in immune response (GO:0032827)|pattern recognition receptor signaling pathway (GO:0002221)|peptide amidation (GO:0001519)|peptidoglycan catabolic process (GO:0009253)|regulation of inflammatory response (GO:0050727)	extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)	N-acetylmuramoyl-L-alanine amidase activity (GO:0008745)|peptidoglycan binding (GO:0042834)|peptidoglycan receptor activity (GO:0016019)|zinc ion binding (GO:0008270)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(3)|prostate(2)|skin(3)|stomach(2)|urinary_tract(1)	28						GGTGACATCTGGAGAGCCATC	0.542																																						ENST00000292609.4																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(3)|prostate(2)|skin(3)|stomach(2)|urinary_tract(1)	28						c.(532-534)cCa>cAa		peptidoglycan recognition protein 2							127	114	118					19																	15586948		2203	4300	6503	SO:0001583	missense	114770				defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptide amidation|peptidoglycan catabolic process	extracellular region|intracellular|membrane	N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding	g.chr19:15586948G>T	AY358156	CCDS12330.2	19p13.12	2010-04-27			ENSG00000161031	ENSG00000161031	3.5.1.28		30013	protein-coding gene	gene with protein product	"peptidoglycan recognition protein L precursor", "peptidoglycan recognition protein-like", "N-acetylmuramoyl-L-alanine amidase"	608199				11461926, 12669421, 14506276	Standard	NM_052890		Approved	PGRP-L, PGLYRPL, TAGL-like, tagL, tagL-alpha, tagl-beta, PGRPL	uc002nbf.4	Q96PD5	OTTHUMG00000150690	ENST00000340880.4:c.533C>A	19.37:g.15586948G>T	ENSP00000345968:p.Pro178Gln					PGLYRP2_ENST00000340880.4_Missense_Mutation_p.P178Q	p.P178Q			Q96PD5	PGRP2_HUMAN			2	662	-			178					A8K050|A8K8C7|B2RMZ2|B7ZM33|Q68CK1|Q96N74|Q9UC60	Missense_Mutation	SNP	ENST00000340880.4	37	c.533C>A	CCDS12330.2	.	.	.	.	.	.	.	.	.	.	G	13.73	2.322973	0.41096	.	.	ENSG00000161031	ENST00000340880;ENST00000292609	T;T	0.06294	3.33;3.32	4.11	1.83	0.25207	.	0.165536	0.28354	N	0.015645	T	0.14013	0.0339	M	0.62723	1.935	0.09310	N	1	D;D	0.63880	0.993;0.966	P;P	0.60682	0.878;0.641	T	0.03344	-1.1046	10	0.66056	D	0.02	.	5.1013	0.14760	0.1128:0.0:0.6852:0.2021	.	178;178	Q96PD5-2;Q96PD5	.;PGRP2_HUMAN	Q	178	ENSP00000345968:P178Q;ENSP00000292609:P178Q	ENSP00000292609:P178Q	P	-	2	0	PGLYRP2	15447948	0.000000	0.05858	0.019000	0.16419	0.024000	0.10985	0.102000	0.15272	0.730000	0.32425	-0.251000	0.11542	CCA		0.542	PGLYRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319626.1	NM_052890		7	127	1	0	0.00198382	1	0.0021326	7	127					T	15586948	G	T	15586948	3	4	258	1	0	0	0	0	1	0	0	0	11794	1348	47	5	1213	5	PGLYRP2	19	15586948	Missense_Mutation	SNP	G	TCGA-HI-7168-01A-11D-2114-08		15586948	43542035	56	12149											
KIAA1683	80726	broad.mit.edu	37	chr19	18377363	18377363	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtgatcatgggccctggacaTatctggaagggggctttggg	7	10	17	7	0	2	1	1	1	1	0	2	3	2	3	1	6	0	1	1	6	2	2			TCGA-HI-7168-01A-11D-2114-08	TCGA-HI-7168-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1706aa-9a73-4b24-b51d-56d3764ea665	0c6efb93-b45f-4607-a8cf-c8b24859ad5d	g.chr19:18377363T>C	ENST00000600328.3	-	3	1180	c.987A>G	c.(985-987)atA>atG	p.I329M	KIAA1683_ENST00000392413.4_Missense_Mutation_p.I329M|KIAA1683_ENST00000600359.3_Missense_Mutation_p.I283M			Q9H0B3	K1683_HUMAN	KIAA1683	329						mitochondrion (GO:0005739)|nucleus (GO:0005634)				breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						GCCCTGGACATATCTGGAAGG	0.567																																						ENST00000392413.3																			0				breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						c.(985-987)atA>atG		KIAA1683							69	70	70					19																	18377363		2203	4300	6503	SO:0001583	missense	80726					mitochondrion		g.chr19:18377363T>C	AB051470	CCDS32958.1, CCDS46017.1, CCDS46018.1	19p13.1	2008-02-05				ENSG00000130518			29350	protein-coding gene	gene with protein product						11214970, 11230166	Standard	NM_025249		Approved		uc010ebn.2	Q9H0B3		ENST00000600328.3:c.987A>G	19.37:g.18377363T>C	ENSP00000470780:p.Ile329Met					KIAA1683_ENST00000600328.2_Missense_Mutation_p.I329M|KIAA1683_ENST00000600359.2_Missense_Mutation_p.I283M	p.I329M	NM_001145304.1|NM_001145305.1|NM_025249.3	NP_001138776.1|NP_001138777.1|NP_079525.1	Q9H0B3	K1683_HUMAN			3	1202	-			329					B4DYH2|E9PDE0|E9PH54|Q2KHR5|Q8N4G8|Q96M14|Q9C0I0	Missense_Mutation	SNP	ENST00000600328.3	37	c.987A>G	CCDS32958.1	.	.	.	.	.	.	.	.	.	.	T	8.463	0.855687	0.17106	.	.	ENSG00000130518	ENST00000392413;ENST00000359737;ENST00000427634;ENST00000358422	T;T;T	0.03689	3.93;3.92;3.84	4.04	-8.06	0.01102	.	1.271530	0.05792	N	0.610578	T	0.01523	0.0049	N	0.04508	-0.205	0.09310	N	1	B;B	0.21381	0.055;0.055	B;B	0.14023	0.01;0.007	T	0.47995	-0.9073	10	0.51188	T	0.08	-1.0233	3.0473	0.06158	0.2468:0.4693:0.1251:0.1589	.	329;329	E9PDE0;Q9H0B3	.;K1683_HUMAN	M	329;329;283;328	ENSP00000376213:I329M;ENSP00000352774:I329M;ENSP00000404501:I283M	ENSP00000351198:I328M	I	-	3	3	KIAA1683	18238363	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-1.852000	0.01667	-1.513000	0.01789	-1.098000	0.02139	ATA		0.567	KIAA1683-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000466312.3			49	62	0	0	0	1	0	49	62					C	18377363	T	C	18377363	3	2	258	1	0	0	0	0	1	0	0	0	8251	1396	49	4	3124	4	KIAA1683	19	18377363	Missense_Mutation	SNP	T	TCGA-HI-7168-01A-11D-2114-08	2790415	18377363	40751620	57	12150											
FUT2	2524	broad.mit.edu	37	chr19	49207194	49207194	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagccagaggcagccttcctGccggagtggacagggattgc	9	6	15	11	1	0	1	0	0	0	1	1	4	1	4	4	4	4	1	4	4	1	2			TCGA-HI-7168-01A-11D-2114-08	TCGA-HI-7168-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1706aa-9a73-4b24-b51d-56d3764ea665	0c6efb93-b45f-4607-a8cf-c8b24859ad5d	g.chr19:49207194G>T	ENST00000425340.2	+	2	1098	c.981G>T	c.(979-981)ctG>ctT	p.L327L	FUT2_ENST00000391876.4_Silent_p.L327L	NM_000511.5|NM_001097638.2	NP_000502.4|NP_001091107.1	Q10981	FUT2_HUMAN	fucosyltransferase 2 (secretor status included)	327					carbohydrate metabolic process (GO:0005975)|fucosylation (GO:0036065)|L-fucose catabolic process (GO:0042355)|protein glycosylation (GO:0006486)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	fucosyltransferase activity (GO:0008417)|galactoside 2-alpha-L-fucosyltransferase activity (GO:0008107)			breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(2)	7		all_lung(116;4.89e-06)|all_epithelial(76;7.04e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.00011)|all cancers(93;0.000238)|GBM - Glioblastoma multiforme(486;0.0164)|Epithelial(262;0.017)		CAGCCTTCCTGCCGGAGTGGA	0.567																																						ENST00000425340.2																			0				breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(2)	7						c.(979-981)ctG>ctT		fucosyltransferase 2 (secretor status included)							64	61	62					19																	49207194		2203	4300	6503	SO:0001819	synonymous_variant	2524				L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to Golgi membrane	galactoside 2-alpha-L-fucosyltransferase activity	g.chr19:49207194G>T		CCDS33069.1	19q13.33	2014-07-19			ENSG00000176920	ENSG00000176920		"Fucosyltransferases"	4013	protein-coding gene	gene with protein product	"alpha (1,2) fucosyltransferase", "galactoside 2-alpha-L-fucosyltransferase 2", "GDP-L-fucose:beta-D-galactoside 2-alpha-L-fucosyltransferase 2", "alpha(1,2)FT2", "secretor factor", "secretor blood group alpha-2-fucosyltransferase"	182100		SE		1763885	Standard	NM_000511		Approved	sej, Se2, SEC2	uc010emc.3	Q10981	OTTHUMG00000164427	ENST00000425340.2:c.981G>T	19.37:g.49207194G>T						FUT2_ENST00000391876.4_Silent_p.L327L	p.L327L	NM_000511.5|NM_001097638.2	NP_000502.4|NP_001091107.1	Q10981	FUT2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00011)|all cancers(93;0.000238)|GBM - Glioblastoma multiforme(486;0.0164)|Epithelial(262;0.017)	2	1098	+		all_lung(116;4.89e-06)|all_epithelial(76;7.04e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)	327					Q0VAG5|Q14338|Q5D0G2	Silent	SNP	ENST00000425340.2	37	c.981G>T	CCDS33069.1																																																																																				0.567	FUT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378731.2	NM_000511		18	97	1	0	1.99824e-07	1	2.32227e-07	18	97					T	49207194	G	T	49207194	2	4	258	1	0	0	0	0	0	0	0	1	6104	1306	46	5		5	FUT2	19	49207194	Silent	SNP	G	TCGA-HI-7168-01A-11D-2114-08	30829831	49207194	9921789	58	12151											
PPFIA3	8541	broad.mit.edu	37	chr19	49633700	49633700	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	acagcagagctggaggaggcCctggagcggcagcgcgccga	9	2	18	12	4	0	1	0	0	0	1	0	5	0	4	2	5	4	3	2	5	0	0	rs142815673	byFrequency	TCGA-HI-7168-01A-11D-2114-08	TCGA-HI-7168-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1706aa-9a73-4b24-b51d-56d3764ea665	0c6efb93-b45f-4607-a8cf-c8b24859ad5d	g.chr19:49633700C>T	ENST00000334186.4	+	7	1072	c.723C>T	c.(721-723)gcC>gcT	p.A241A	PPFIA3_ENST00000602351.1_Silent_p.A241A	NM_003660.2	NP_003651.1	O75145	LIPA3_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 3	241					cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|presynaptic active zone (GO:0048786)				NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(16)|pancreas(1)|prostate(1)|skin(4)|urinary_tract(1)	35		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.36e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000203)|GBM - Glioblastoma multiforme(486;0.00307)|Epithelial(262;0.00677)		TGGAGGAGGCCCTGGAGCGGC	0.687													C|||	5	0.000998403	0.0038	0	5008	,	,		15678	0		0	False		,,,				2504	0					ENST00000334186.4																			0				NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(16)|pancreas(1)|prostate(1)|skin(4)|urinary_tract(1)	35						c.(721-723)gcC>gcT		protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 3		C		17,4343		0,17,2163	12	14	13		723	-1	1	19	dbSNP_134	13	0,8562		0,0,4281	no	coding-synonymous	PPFIA3	NM_003660.2		0,17,6444	TT,TC,CC		0.0,0.3899,0.1316		241/1195	49633700	17,12905	2180	4281	6461	SO:0001819	synonymous_variant	8541					cell surface|cytoplasm	protein binding	g.chr19:49633700C>T	AF034800	CCDS12758.1	19q13.33	2013-09-23			ENSG00000177380	ENSG00000177380		"Sterile alpha motif (SAM) domain containing"	9247	protein-coding gene	gene with protein product	"protein tyrosine phosphatase, receptor type, f polypeptide, alpha 3", "liprin-alpha 3", "liprin"	603144				9624153, 9734811	Standard	NM_003660		Approved	KIAA0654, LPNA3, MGC126567, MGC126569	uc002pmr.3	O75145	OTTHUMG00000183213	ENST00000334186.4:c.723C>T	19.37:g.49633700C>T						PPFIA3_ENST00000602351.1_Silent_p.A241A	p.A241A	NM_003660.2	NP_003651.1	O75145	LIPA3_HUMAN		all cancers(93;2.36e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000203)|GBM - Glioblastoma multiforme(486;0.00307)|Epithelial(262;0.00677)	7	1072	+		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)	241					A8K142|Q3MJA0|Q9H8B5|Q9UEW4	Silent	SNP	ENST00000334186.4	37	c.723C>T	CCDS12758.1																																																																																				0.687	PPFIA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465688.1	NM_003660		4	11	0	0	0	1	0	4	11					T	49633700	C	T	49633700	2	4	258	1	0	0	0	0	0	0	0	1	12311	610	22	3		3	PPFIA3	19	49633700	Silent	SNP	C	TCGA-HI-7168-01A-11D-2114-08	426506	49633700	9495283	59	12152											
H6PD	9563	broad.mit.edu	37	chr1	9323958	9323958	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atcccatatcttccatggccGgaagaatttcttcatcacca	11	12	5	13	1	4	1	2	0	2	1	6	2	6	2	4	2	0	0	4	2	3	4	rs113495544	byFrequency	TCGA-HI-7169-01A-11D-2114-08	TCGA-HI-7169-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1fc4226-40ce-43b7-b92e-aa7cecd0cf4d	263e1015-1061-4ad2-8f7e-ed430d2d9e80	g.chr1:9323958G>A	ENST00000377403.2	+	5	1708	c.1406G>A	c.(1405-1407)cGg>cAg	p.R469Q	H6PD_ENST00000602477.1_Missense_Mutation_p.R480Q	NM_001282587.1|NM_004285.3	NP_001269516.1|NP_004276.2	O95479	G6PE_HUMAN	hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase)	469	Glucose 1-dehydrogenase.				pentose-phosphate shunt (GO:0006098)|response to alcohol (GO:0097305)	endoplasmic reticulum (GO:0005783)|mitochondrion (GO:0005739)	6-phosphogluconolactonase activity (GO:0017057)|carbohydrate binding (GO:0030246)|glucose 1-dehydrogenase [NAD(P)] activity (GO:0047936)|glucose-6-phosphate dehydrogenase activity (GO:0004345)|NADP binding (GO:0050661)			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23	all_lung(157;0.23)	all_epithelial(116;1.28e-19)|all_lung(118;5.22e-06)|Lung NSC(185;1.98e-05)|Renal(390;0.000147)|Breast(348;0.00109)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.88e-07)|COAD - Colon adenocarcinoma(227;7.47e-05)|Kidney(185;0.000244)|KIRC - Kidney renal clear cell carcinoma(229;0.000905)|STAD - Stomach adenocarcinoma(132;0.00176)|BRCA - Breast invasive adenocarcinoma(304;0.00183)|READ - Rectum adenocarcinoma(331;0.0419)		TTCCATGGCCGGAAGAATTTC	0.597													G|||	3	0.000599042	0	0	5008	,	,		19050	0.002		0	False		,,,				2504	0.001					ENST00000377403.2																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23						c.(1405-1407)cGg>cAg		hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase)	NADH(DB00157)	G	GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	90	103	98		1406	3.7	0.5	1	dbSNP_132	98	0,8600		0,0,4300	yes	missense	H6PD	NM_004285.3	43	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	469/792	9323958	1,13005	2203	4300	6503	SO:0001583	missense	9563					endoplasmic reticulum lumen	6-phosphogluconolactonase activity|glucose 1-dehydrogenase|glucose-6-phosphate dehydrogenase activity|NADP binding	g.chr1:9323958G>A	AJ012590	CCDS101.1, CCDS72697.1	1p36	2008-02-05	2003-10-10		ENSG00000049239	ENSG00000049239	1.1.1.47		4795	protein-coding gene	gene with protein product		138090	"glucose dehyrogenase"	GDH		10349511	Standard	NM_001282587		Approved		uc001apt.3	O95479	OTTHUMG00000001768	ENST00000377403.2:c.1406G>A	1.37:g.9323958G>A	ENSP00000366620:p.Arg469Gln					H6PD_ENST00000602477.1_Missense_Mutation_p.R480Q	p.R469Q	NM_004285.3	NP_004276.2	O95479	G6PE_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.88e-07)|COAD - Colon adenocarcinoma(227;7.47e-05)|Kidney(185;0.000244)|KIRC - Kidney renal clear cell carcinoma(229;0.000905)|STAD - Stomach adenocarcinoma(132;0.00176)|BRCA - Breast invasive adenocarcinoma(304;0.00183)|READ - Rectum adenocarcinoma(331;0.0419)	5	1708	+	all_lung(157;0.23)	all_epithelial(116;1.28e-19)|all_lung(118;5.22e-06)|Lung NSC(185;1.98e-05)|Renal(390;0.000147)|Breast(348;0.00109)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)	469			Glucose 1-dehydrogenase.		Q4TT33|Q66I35|Q68DT3	Missense_Mutation	SNP	ENST00000377403.2	37	c.1406G>A	CCDS101.1	2	9.157509157509158E-4	0	0.0	0	0.0	2	0.0034965034965034965	0	0.0	G	9.147	1.015316	0.19355	2.27E-4	0.0	ENSG00000049239	ENST00000377403	D	0.98207	-4.79	5.53	3.65	0.41850	.	0.309965	0.34002	N	0.004350	D	0.94305	0.8170	L	0.38175	1.15	0.33590	D	0.60101	B	0.30741	0.293	B	0.15052	0.012	D	0.94300	0.7536	10	0.28530	T	0.3	-23.6496	8.8895	0.35425	0.2291:0.0:0.7709:0.0	.	469	O95479	G6PE_HUMAN	Q	469	ENSP00000366620:R469Q	ENSP00000366620:R469Q	R	+	2	0	H6PD	9246545	0.961000	0.32948	0.509000	0.27700	0.417000	0.31264	1.618000	0.36954	1.339000	0.45563	0.561000	0.74099	CGG		0.597	H6PD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004928.2	NM_004285		4	123	0	0	0	1	0	4	123					A	9323958	G	A	9323958	3	1	259	1	0	0	0	0	1	0	0	0	6936	1116	39	2	1420	2	H6PD	1	9323958	Missense_Mutation	SNP	G	TCGA-HI-7169-01A-11D-2114-08		9323958	239926663	1	12153											
ZNF644	84146	broad.mit.edu	37	chr1	91406039	91406040	+	Frame_Shift_Ins	INS	-	-	T																															tacatccatttttcgctttcINStttttttttctagacctatt																										TCGA-HI-7169-01A-11D-2114-08	TCGA-HI-7169-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1fc4226-40ce-43b7-b92e-aa7cecd0cf4d	263e1015-1061-4ad2-8f7e-ed430d2d9e80	g.chr1:91406039_91406040insT	ENST00000370440.1	-	3	1088_1089	c.871_872insA	c.(871-873)agafs	p.R291fs	ZNF644_ENST00000467231.1_Intron|ZNF644_ENST00000361321.5_Intron|ZNF644_ENST00000347275.5_Intron|ZNF644_ENST00000337393.5_Frame_Shift_Ins_p.R291fs			Q9H582	ZN644_HUMAN	zinc finger protein 644	291					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(4)|endometrium(2)|large_intestine(10)|lung(21)|ovary(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	47		all_lung(203;0.00206)|Lung NSC(277;0.0519)|Lung SC(238;0.101)		all cancers(265;0.00102)|Epithelial(280;0.00766)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)|OV - Ovarian serous cystadenocarcinoma(397;0.173)		TTTTCGCTTTCTTTTTTTTTCT	0.337																																						ENST00000370440.1																			0				breast(4)|endometrium(2)|large_intestine(10)|lung(21)|ovary(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						c.(871-873)aaafs		zinc finger protein 644																																				SO:0001589	frameshift_variant	84146				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:91406039_91406040insT	AB033047	CCDS731.1, CCDS732.1	1p22.2	2008-02-05			ENSG00000122482	ENSG00000122482			29222	protein-coding gene	gene with protein product		614159				10574462	Standard	NM_032186		Approved	KIAA1221, BM-005, MGC60165, MGC70410	uc001dnw.3	Q9H582	OTTHUMG00000010078	ENST00000370440.1:c.872dupA	1.37:g.91406048_91406048dupT	ENSP00000359469:p.Arg291fs					ZNF644_ENST00000347275.5_Intron|ZNF644_ENST00000467231.1_Intron|ZNF644_ENST00000361321.5_Intron|ZNF644_ENST00000337393.5_Frame_Shift_Ins_p.K291fs	p.K291fs			Q9H582	ZN644_HUMAN		all cancers(265;0.00102)|Epithelial(280;0.00766)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)|OV - Ovarian serous cystadenocarcinoma(397;0.173)	3	1088_1089	-		all_lung(203;0.00206)|Lung NSC(277;0.0519)|Lung SC(238;0.101)	291					A2RU71|Q2TAM0|Q5TCC0|Q6BEP7|Q6P446|Q6PI06|Q7LG67|Q9ULJ9	Frame_Shift_Ins	INS	ENST00000370440.1	37	c.871_872insA	CCDS731.1																																																																																				0.337	ZNF644-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027846.2	NM_032186		7	54						7	54	---	---	---	---	T	91406040	-	T	91406039	7	5	259	1	0	1	1	0	0	0	0	0	18057	913	32	0	3127	0	ZNF644	1	91406039	Frame_Shift_Ins	INS	-	TCGA-HI-7169-01A-11D-2114-08	82082081	91406039	157844582	2	12154											
RBM15	64783	broad.mit.edu	37	chr1	110882266	110882266	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gttagggggctctggtggcaGcaatgggagcagcagcggaa	9	6	19	7	1	1	0	0	0	1	0	1	2	1	2	0	6	4	6	0	6	3	1			TCGA-HI-7169-01A-11D-2114-08	TCGA-HI-7169-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1fc4226-40ce-43b7-b92e-aa7cecd0cf4d	263e1015-1061-4ad2-8f7e-ed430d2d9e80	g.chr1:110882266G>A	ENST00000369784.3	+	1	1139	c.239G>A	c.(238-240)aGc>aAc	p.S80N	RBM15_ENST00000487146.2_Missense_Mutation_p.S80N|RP5-1074L1.1_ENST00000449169.1_RNA|RBM15_ENST00000602849.1_Missense_Mutation_p.S80N	NM_022768.4	NP_073605.4	Q96T37	RBM15_HUMAN	RNA binding motif protein 15	80	Gly/Ser-rich.				negative regulation of myeloid cell differentiation (GO:0045638)|patterning of blood vessels (GO:0001569)|placenta blood vessel development (GO:0060674)|positive regulation of transcription of Notch receptor target (GO:0007221)|spleen development (GO:0048536)|ventricular septum morphogenesis (GO:0060412)|viral process (GO:0016032)	membrane (GO:0016020)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			ovary(3)	3		all_cancers(81;2.89e-06)|all_epithelial(167;2.96e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)|Breast(1374;0.0634)		BRCA - Breast invasive adenocarcinoma(282;0.000224)|Epithelial(280;0.000476)|Kidney(133;0.000539)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|all cancers(265;0.00144)|Lung(183;0.0238)|Colorectal(144;0.103)|LUSC - Lung squamous cell carcinoma(189;0.135)		TCTGGTGGCAGCAATGGGAGC	0.637			T	MKL1	acute megakaryocytic leukemia						OREG0013656	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000369784.3				Dom	yes		1	1p13	64783	T	RNA binding motif protein 15			L	MKL1		acute megakaryocytic leukemia		0				ovary(3)	3						c.(238-240)aGc>aAc		RNA binding motif protein 15							36	37	37					1																	110882266		2203	4298	6501	SO:0001583	missense	64783				interspecies interaction between organisms	nucleus	nucleotide binding|protein binding|RNA binding	g.chr1:110882266G>A	AF368063	CCDS822.1, CCDS59198.1	1p13	2013-02-12			ENSG00000162775	ENSG00000162775		"RNA binding motif (RRM) containing"	14959	protein-coding gene	gene with protein product	"one twenty-two"	606077				11431691, 11344311	Standard	NM_001201545		Approved	OTT, OTT1	uc001dzl.1	Q96T37	OTTHUMG00000011284	ENST00000369784.3:c.239G>A	1.37:g.110882266G>A	ENSP00000358799:p.Ser80Asn		OREG0013656	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1430	RBM15_ENST00000487146.2_Missense_Mutation_p.S80N|RBM15_ENST00000602849.1_Missense_Mutation_p.S80N	p.S80N	NM_022768.4	NP_073605.4	Q96T37	RBM15_HUMAN		BRCA - Breast invasive adenocarcinoma(282;0.000224)|Epithelial(280;0.000476)|Kidney(133;0.000539)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|all cancers(265;0.00144)|Lung(183;0.0238)|Colorectal(144;0.103)|LUSC - Lung squamous cell carcinoma(189;0.135)	1	1139	+		all_cancers(81;2.89e-06)|all_epithelial(167;2.96e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)|Breast(1374;0.0634)	80			Gly/Ser-rich.		A1A693|Q3ZB86|Q4V760|Q5D058|Q5T613|Q86VW9|Q96PE4|Q96SC5|Q96SC6|Q96SC9|Q96SD0|Q96T38|Q9BRA5|Q9H6R8|Q9H9Y0	Missense_Mutation	SNP	ENST00000369784.3	37	c.239G>A	CCDS822.1	.	.	.	.	.	.	.	.	.	.	G	14.60	2.585270	0.46110	.	.	ENSG00000162775	ENST00000369784	T	0.19806	2.12	5.31	5.31	0.75309	.	0.000000	0.53938	D	0.000043	T	0.08268	0.0206	L	0.29908	0.895	0.30159	N	0.802362	B;B	0.06786	0.001;0.0	B;B	0.08055	0.003;0.001	T	0.08106	-1.0738	10	0.72032	D	0.01	-12.6453	13.4365	0.61086	0.0773:0.0:0.9227:0.0	.	80;80	Q96T37-3;Q96T37	.;RBM15_HUMAN	N	80	ENSP00000358799:S80N	ENSP00000358799:S80N	S	+	2	0	RBM15	110683789	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	5.890000	0.69774	2.763000	0.94921	0.655000	0.94253	AGC		0.637	RBM15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000031114.2	NM_022768		3	54	0	0	0	1	0	3	54					A	110882266	G	A	110882266	3	1	259	1	0	0	0	0	1	0	0	0	13116	971	34	3	241	3	RBM15	1	110882266	Missense_Mutation	SNP	G	TCGA-HI-7169-01A-11D-2114-08	19476227	110882266	138368355	3	12155											
SMG7	9887	broad.mit.edu	37	chr1	183515266	183515267	+	Frame_Shift_Ins	INS	-	-	A																															aatgcagcagcagcctctagINSaaaaaaaaatgaagcctttt																										TCGA-HI-7169-01A-11D-2114-08	TCGA-HI-7169-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1fc4226-40ce-43b7-b92e-aa7cecd0cf4d	263e1015-1061-4ad2-8f7e-ed430d2d9e80	g.chr1:183515266_183515267insA	ENST00000347615.2	+	17	2655_2656	c.2536_2537insA	c.(2536-2538)gaafs	p.E846fs	SMG7_ENST00000456731.2_Frame_Shift_Ins_p.E758fs|SMG7_ENST00000367537.3_Frame_Shift_Ins_p.E829fs|SMG7_ENST00000515829.2_Frame_Shift_Ins_p.E800fs|SMG7_ENST00000508461.1_Frame_Shift_Ins_p.E804fs|SMG7_ENST00000507469.1_Frame_Shift_Ins_p.E800fs	NM_173156.2	NP_775179.1	Q92540	SMG7_HUMAN	SMG7 nonsense mediated mRNA decay factor	846					gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of dephosphorylation (GO:0035303)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)	protein phosphatase 2A binding (GO:0051721)	p.?(1)		breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(16)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						GCAGCCTCTAGAAAAAAAAATG	0.45																																						ENST00000367537.3																			1	Unknown(1)	p.?(1)	skin(1)	breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(16)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						c.(2485-2487)aaafs		SMG7 nonsense mediated mRNA decay factor																																				SO:0001589	frameshift_variant	9887				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation	cytoplasm|intermediate filament cytoskeleton|nucleus	protein phosphatase 2A binding	g.chr1:183515266_183515267insA	D87437	CCDS1355.1, CCDS41445.1, CCDS41445.2, CCDS53444.1, CCDS53445.1	1q25	2013-07-02	2013-07-02	2006-02-16	ENSG00000116698	ENSG00000116698			16792	protein-coding gene	gene with protein product	"EST1 telomerase component homolog C (S. cerevisiae)"	610964	"chromosome 1 open reading frame 16", "smg-7 homolog, nonsense mediated mRNA decay factor (C. elegans)"	C1orf16		14636577, 15721257	Standard	NM_173156		Approved	KIAA0250, EST1C, SGA56M, SMG-7	uc001gqf.3	Q92540	OTTHUMG00000035221	ENST00000347615.2:c.2545dupA	1.37:g.183515275_183515275dupA	ENSP00000340766:p.Glu846fs					SMG7_ENST00000347615.2_Frame_Shift_Ins_p.K846fs|SMG7_ENST00000515829.2_Frame_Shift_Ins_p.K800fs|SMG7_ENST00000507469.1_Frame_Shift_Ins_p.K800fs|SMG7_ENST00000508461.1_Frame_Shift_Ins_p.K804fs|SMG7_ENST00000456731.2_Frame_Shift_Ins_p.K758fs	p.K829fs			Q92540	SMG7_HUMAN			18	2680_2681	+			846			Gln/Pro-rich.		B4DRB2|E9PCI0|E9PEH2|Q5T1Q0|Q6PIE0|Q7Z7H9|Q8IXC1|Q8IXC2	Frame_Shift_Ins	INS	ENST00000347615.2	37	c.2485_2486insA	CCDS1355.1																																																																																				0.45	SMG7-002	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000085432.1	NM_014837		7	67						7	67	---	---	---	---	A	183515267	-	A	183515266	7	5	259	1	0	1	1	0	0	0	0	0	14798	943	33	0	2602	0	SMG7	1	183515266	Frame_Shift_Ins	INS	-	TCGA-HI-7169-01A-11D-2114-08	72633000	183515266	65735355	4	12156											
PIK3C2B	5287	broad.mit.edu	37	chr1	204409361	204409361	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agcagcggaagatgaccatgCgcatgtccagcccctcctgg	9	6	12	14	2	0	2	0	1	0	1	2	3	2	3	5	2	4	2	5	2	1	0	rs368018698		TCGA-HI-7169-01A-11D-2114-08	TCGA-HI-7169-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1fc4226-40ce-43b7-b92e-aa7cecd0cf4d	263e1015-1061-4ad2-8f7e-ed430d2d9e80	g.chr1:204409361C>T	ENST00000367187.3	-	23	3894	c.3338G>A	c.(3337-3339)cGc>cAc	p.R1113H	PIK3C2B_ENST00000424712.2_Missense_Mutation_p.R1085H	NM_002646.3	NP_002637.3	O00750	P3C2B_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta	1113	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.				phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|protein kinase B signaling (GO:0043491)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|lipid kinase activity (GO:0001727)|phosphatidylinositol binding (GO:0035091)			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(4)|large_intestine(11)|lung(24)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	52	all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227)		GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193)			GATGACCATGCGCATGTCCAG	0.602																																						ENST00000367187.3																			0				breast(3)|central_nervous_system(1)|cervix(2)|endometrium(4)|large_intestine(11)|lung(24)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	52						c.(3337-3339)cGc>cAc		phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta		C	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	134	116	122		3338	5.2	1	1		122	0,8600		0,0,4300	no	missense	PIK3C2B	NM_002646.3	29	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	1113/1635	204409361	1,13005	2203	4300	6503	SO:0001583	missense	5287				cell communication|phosphatidylinositol-mediated signaling	endoplasmic reticulum|microsome|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity|protein binding	g.chr1:204409361C>T	Y11312	CCDS1446.1	1q32	2012-07-13	2012-07-13		ENSG00000133056	ENSG00000133056	2.7.1.154		8972	protein-coding gene	gene with protein product		602838	"phosphoinositide-3-kinase, class 2, beta polypeptide"			9144573, 9830063	Standard	NM_002646		Approved	C2-PI3K, PI3K-C2beta	uc001haw.3	O00750	OTTHUMG00000036101	ENST00000367187.3:c.3338G>A	1.37:g.204409361C>T	ENSP00000356155:p.Arg1113His					PIK3C2B_ENST00000424712.2_Missense_Mutation_p.R1085H	p.R1113H	NM_002646.3	NP_002637.3	O00750	P3C2B_HUMAN	GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193)		23	3894	-	all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227)		1113			PI3K/PI4K.		O95666|Q5SW99	Missense_Mutation	SNP	ENST00000367187.3	37	c.3338G>A	CCDS1446.1	.	.	.	.	.	.	.	.	.	.	C	31	5.087376	0.94100	2.27E-4	0.0	ENSG00000133056	ENST00000367187;ENST00000424712	T;T	0.77877	-1.13;-1.13	6.06	5.15	0.70609	Protein kinase-like domain (1);Phosphatidylinositol 3-/4-kinase, catalytic (3);	0.048250	0.85682	D	0.000000	T	0.79275	0.4418	L	0.33792	1.035	0.43088	D	0.994758	D;B	0.60575	0.988;0.26	P;B	0.57152	0.814;0.039	T	0.81210	-0.1036	10	0.54805	T	0.06	.	14.8752	0.70488	0.0:0.931:0.0:0.069	.	1085;1113	F5GWN5;O00750	.;P3C2B_HUMAN	H	1113;1085	ENSP00000356155:R1113H;ENSP00000400561:R1085H	ENSP00000356155:R1113H	R	-	2	0	PIK3C2B	202675984	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.070000	0.71220	1.574000	0.49760	0.650000	0.86243	CGC		0.602	PIK3C2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087965.1	NM_002646		4	161	0	0	0	1	0	4	161					T	204409361	C	T	204409361	3	4	259	1	0	0	0	0	1	0	0	0	11910	768	27	1	1614	1	PIK3C2B	1	204409361	Missense_Mutation	SNP	C	TCGA-HI-7169-01A-11D-2114-08	20894095	204409361	44841260	5	12157											
LBR	3930	broad.mit.edu	37	chr1	225591013	225591013	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccagaagagcattagtagaTgtatggaaatatacggtagg	15	9	13	4	1	0	3	0	0	0	3	0	4	0	4	1	3	2	4	1	3	8	6			TCGA-HI-7169-01A-11D-2114-08	TCGA-HI-7169-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1fc4226-40ce-43b7-b92e-aa7cecd0cf4d	263e1015-1061-4ad2-8f7e-ed430d2d9e80	g.chr1:225591013T>C	ENST00000338179.2	-	14	1965	c.1840A>G	c.(1840-1842)Atc>Gtc	p.I614V	LBR_ENST00000272163.4_Missense_Mutation_p.I614V	NM_194442.2	NP_919424.1	Q14739	LBR_HUMAN	lamin B receptor	614					cholesterol biosynthetic process (GO:0006695)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|integral component of nuclear inner membrane (GO:0005639)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)	chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|lamin binding (GO:0005521)|oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor (GO:0016628)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	22	Breast(184;0.165)			GBM - Glioblastoma multiforme(131;0.117)		CATTAGTAGATGTATGGAAAT	0.433																																						ENST00000338179.2																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	22						c.(1840-1842)Atc>Gtc		lamin B receptor							102	99	100					1																	225591013		2203	4300	6503	SO:0001583	missense	3930				cholesterol biosynthetic process	integral to nuclear inner membrane	chromo shadow domain binding|delta14-sterol reductase activity|DNA binding|lamin binding|receptor activity	g.chr1:225591013T>C	L25931	CCDS1545.1	1q42.1	2013-01-23			ENSG00000143815	ENSG00000143815		"Tudor domain containing"	6518	protein-coding gene	gene with protein product	"tudor domain containing 18"	600024				8157663, 9878250	Standard	NM_194442		Approved	DHCR14B, TDRD18	uc001hoy.3	Q14739	OTTHUMG00000037520	ENST00000338179.2:c.1840A>G	1.37:g.225591013T>C	ENSP00000339883:p.Ile614Val					LBR_ENST00000272163.4_Missense_Mutation_p.I614V	p.I614V	NM_194442.2	NP_919424.1	Q14739	LBR_HUMAN		GBM - Glioblastoma multiforme(131;0.117)	14	1965	-	Breast(184;0.165)		614					B2R5P3|Q14740|Q53GU7|Q59FE6	Missense_Mutation	SNP	ENST00000338179.2	37	c.1840A>G	CCDS1545.1	.	.	.	.	.	.	.	.	.	.	T	3.575	-0.086803	0.07097	.	.	ENSG00000143815	ENST00000272163;ENST00000338179	D;D	0.97870	-4.58;-4.58	6.17	-7.95	0.01148	.	0.879788	0.10140	N	0.710928	D	0.90909	0.7143	N	0.16166	0.38	0.09310	N	1	B	0.09022	0.002	B	0.17722	0.019	T	0.81022	-0.1121	10	0.06625	T	0.88	-5.2438	12.9851	0.58588	0.0:0.5634:0.1021:0.3345	.	614	Q14739	LBR_HUMAN	V	614	ENSP00000272163:I614V;ENSP00000339883:I614V	ENSP00000272163:I614V	I	-	1	0	LBR	223657636	0.000000	0.05858	0.000000	0.03702	0.108000	0.19459	-0.731000	0.04909	-1.923000	0.01065	-0.290000	0.09829	ATC		0.433	LBR-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091398.1	NM_002296		9	112	0	0	0	1	0	9	112					C	225591013	T	C	225591013	3	2	259	1	0	0	0	0	1	0	0	0	8652	1464	51	4	11	4	LBR	1	225591013	Missense_Mutation	SNP	T	TCGA-HI-7169-01A-11D-2114-08	21181652	225591013	23659608	6	12158											
SNX17	9784	broad.mit.edu	37	chr2	27599549	27599549	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgccagtgatgtccacggcaAtttcgccttcgagggcattg	7	11	12	11	3	0	1	0	1	0	0	3	2	1	1	3	2	1	2	3	2	1	3			TCGA-HI-7169-01A-11D-2114-08	TCGA-HI-7169-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1fc4226-40ce-43b7-b92e-aa7cecd0cf4d	263e1015-1061-4ad2-8f7e-ed430d2d9e80	g.chr2:27599549A>G	ENST00000233575.2	+	15	1598	c.1376A>G	c.(1375-1377)aAt>aGt	p.N459S	SNX17_ENST00000543024.1_Missense_Mutation_p.N245S|ZNF513_ENST00000491924.1_5'Flank|SNX17_ENST00000537606.1_Missense_Mutation_p.N434S|SNX17_ENST00000542478.1_Missense_Mutation_p.N245S	NM_001267059.1|NM_001267061.1|NM_014748.3	NP_001253988.1|NP_001253990.1|NP_055563.1	Q15036	SNX17_HUMAN	sorting nexin 17	459					cholesterol catabolic process (GO:0006707)|endosomal transport (GO:0016197)|intracellular protein transport (GO:0006886)|receptor-mediated endocytosis (GO:0006898)|regulation of endocytosis (GO:0030100)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|early endosome (GO:0005769)|endosome (GO:0005768)|endosome membrane (GO:0010008)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|protein complex (GO:0043234)	low-density lipoprotein particle receptor binding (GO:0050750)|phosphatidylinositol binding (GO:0035091)|protein C-terminus binding (GO:0008022)|receptor binding (GO:0005102)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)	14	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GTCCACGGCAATTTCGCCTTC	0.547																																						ENST00000233575.2																			0				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)	14						c.(1375-1377)aAt>aGt		sorting nexin 17							108	95	100					2																	27599549		2203	4300	6503	SO:0001583	missense	9784				cell communication|endosome transport|intracellular protein transport|regulation of endocytosis|signal transduction	cytoplasmic vesicle membrane|cytosol|early endosome|Golgi apparatus	low-density lipoprotein particle receptor binding|phosphatidylinositol binding|protein C-terminus binding	g.chr2:27599549A>G	D31764	CCDS1750.1, CCDS58704.1	2p23-p22	2008-05-21			ENSG00000115234	ENSG00000115234		"Sorting nexins"	14979	protein-coding gene	gene with protein product		605963				12169628, 15769472	Standard	NM_014748		Approved	KIAA0064	uc002rkg.2	Q15036	OTTHUMG00000097781	ENST00000233575.2:c.1376A>G	2.37:g.27599549A>G	ENSP00000233575:p.Asn459Ser					SNX17_ENST00000543024.1_Missense_Mutation_p.N245S|SNX17_ENST00000537606.1_Missense_Mutation_p.N434S|SNX17_ENST00000542478.1_Missense_Mutation_p.N245S	p.N459S	NM_001267059.1|NM_001267061.1|NM_014748.3	NP_001253988.1|NP_001253990.1|NP_055563.1	Q15036	SNX17_HUMAN			15	1598	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		459					B4DQM7|Q53HN7|Q6IAS3	Missense_Mutation	SNP	ENST00000233575.2	37	c.1376A>G	CCDS1750.1	.	.	.	.	.	.	.	.	.	.	A	18.19	3.568266	0.65651	.	.	ENSG00000115234	ENST00000233575;ENST00000543024;ENST00000537606;ENST00000542478	T;T;T;T	0.52295	1.3;0.67;0.91;0.67	5.25	5.25	0.73442	.	0.000000	0.85682	D	0.000000	T	0.68229	0.2978	M	0.79123	2.44	0.58432	D	0.999998	D;D;D;D	0.76494	0.993;0.993;0.993;0.999	D;D;D;D	0.80764	0.968;0.968;0.935;0.994	T	0.72724	-0.4207	10	0.87932	D	0	-18.5364	13.1319	0.59387	1.0:0.0:0.0:0.0	.	434;447;439;459	B4DQM7;B4DTB8;B4DQ37;Q15036	.;.;.;SNX17_HUMAN	S	459;245;434;245	ENSP00000233575:N459S;ENSP00000441779:N245S;ENSP00000439208:N434S;ENSP00000442567:N245S	ENSP00000233575:N459S	N	+	2	0	SNX17	27453053	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.988000	0.88194	2.206000	0.71126	0.459000	0.35465	AAT		0.547	SNX17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215024.1	NM_014748		11	47	0	0	0	1	0	11	47					G	27599549	A	G	27599549	3	3	259	1	0	0	0	0	1	0	0	0	14888	101	4	4	1434	4	SNX17	2	27599549	Missense_Mutation	SNP	A	TCGA-HI-7169-01A-11D-2114-08		27599549	215599824	7	12159											
TMEM131	23505	broad.mit.edu	37	chr2	98382597	98382597	+	Frame_Shift_Del	DEL	G	G	-																															agctgccaggtttgtgaactGgaacggaatcccactccggt																										TCGA-HI-7169-01A-11D-2114-08	TCGA-HI-7169-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1fc4226-40ce-43b7-b92e-aa7cecd0cf4d	263e1015-1061-4ad2-8f7e-ed430d2d9e80	g.chr2:98382597delG	ENST00000186436.5	-	35	4931	c.4703delC	c.(4702-4704)ccafs	p.P1568fs		NM_015348.1	NP_056163.1	Q92545	TM131_HUMAN	transmembrane protein 131	1568						integral component of membrane (GO:0016021)				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(4)|prostate(1)|skin(1)|stomach(1)	57						TTTGTGAACTGGAACGGAATC	0.512																																						ENST00000186436.5																			0				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(4)|prostate(1)|skin(1)|stomach(1)	57						c.(4702-4704)cafs		transmembrane protein 131							80	79	79					2																	98382597		1869	4103	5972	SO:0001589	frameshift_variant	23505					integral to membrane		g.chr2:98382597delG	AK025852	CCDS46368.1	2q11.2	2006-04-12			ENSG00000075568	ENSG00000075568			30366	protein-coding gene	gene with protein product		615659				9039502, 10996388	Standard	NM_015348		Approved	CC28, YR-23, RW1, KIAA0257, PRO1048	uc002syh.4	Q92545	OTTHUMG00000153061	ENST00000186436.5:c.4703delC	2.37:g.98382597delG	ENSP00000186436:p.Pro1568fs						p.P1568fs	NM_015348.1	NP_056163.1	Q92545	TM131_HUMAN			35	4931	-			1568						Frame_Shift_Del	DEL	ENST00000186436.5	37	c.4703delC	CCDS46368.1																																																																																				0.512	TMEM131-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329285.2	XM_371542		20	49						20	49	---	---	---	---	-	98382597	G	-	98382597	7	5	259	1	0	1	0	1	0	0	0	0	16041	1348	47	0	976	0	TMEM131	2	98382597	Frame_Shift_Del	DEL	G	TCGA-HI-7169-01A-11D-2114-08	70783048	98382597	144816776	8	12160											
TTN	7273	broad.mit.edu	37	chr2	179402560	179402560	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgtcaggaagaggccttccaAcaatctggcatgagagttga	12	9	12	8	0	2	3	1	2	1	2	3	5	3	4	2	3	1	2	2	3	3	2			TCGA-HI-7169-01A-11D-2114-08	TCGA-HI-7169-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1fc4226-40ce-43b7-b92e-aa7cecd0cf4d	263e1015-1061-4ad2-8f7e-ed430d2d9e80	g.chr2:179402560A>G	ENST00000591111.1	-	305	94675	c.94451T>C	c.(94450-94452)gTt>gCt	p.V31484A	TTN_ENST00000342992.6_Missense_Mutation_p.V30557A|TTN_ENST00000460472.2_Missense_Mutation_p.V24060A|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.V24252A|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.V33125A|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000415561.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.V24185A			Q8WZ42	TITIN_HUMAN	titin	31484	Ig-like 140.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AGGCCTTCCAACAATCTGGCA	0.433																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(99373-99375)gTt>gCt		titin							57	53	54					2																	179402560		1896	4118	6014	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179402560A>G	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.94451T>C	2.37:g.179402560A>G	ENSP00000465570:p.Val31484Ala					TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.V30557A|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.V24060A|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.V31484A|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.V24185A|TTN_ENST00000342175.6_Missense_Mutation_p.V24252A|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000415561.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000592750.1_RNA	p.V33125A	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		355	99598	-			31484					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.99374T>C		.	.	.	.	.	.	.	.	.	.	A	18.60	3.658206	0.67586	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.65732	-0.17;-0.17;-0.17;-0.17	6.04	6.04	0.98038	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.60366	0.2263	L	0.39020	1.185	0.46701	D	0.999165	P;P;P;P	0.44734	0.746;0.746;0.746;0.842	P;P;P;P	0.45167	0.472;0.472;0.472;0.454	T	0.64807	-0.6320	9	0.87932	D	0	.	16.5885	0.84745	1.0:0.0:0.0:0.0	.	24060;24185;24252;31484	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	A	30557;24060;24252;24185;24057	ENSP00000343764:V30557A;ENSP00000434586:V24060A;ENSP00000340554:V24252A;ENSP00000352154:V24185A	ENSP00000340554:V24252A	V	-	2	0	TTN	179110806	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.339000	0.96797	2.317000	0.78254	0.460000	0.39030	GTT		0.433	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		7	24	0	0	0	1	0	7	24					G	179402560	A	G	179402560	3	3	259	1	0	0	0	0	1	0	0	0	16732	43	2	4	8637	4	TTN	2	179402560	Missense_Mutation	SNP	A	TCGA-HI-7169-01A-11D-2114-08	81019963	179402560	63796813	9	12161											
FN1	2335	broad.mit.edu	37	chr2	216259362	216259362	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atcaaaagtgcaggagctctGatcagcatggaccacttctt	12	10	9	10	0	4	1	2	1	2	0	4	3	4	3	1	2	3	3	1	2	2	2			TCGA-HI-7169-01A-11D-2114-08	TCGA-HI-7169-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1fc4226-40ce-43b7-b92e-aa7cecd0cf4d	263e1015-1061-4ad2-8f7e-ed430d2d9e80	g.chr2:216259362G>A	ENST00000359671.1	-	24	3950	c.3685C>T	c.(3685-3687)Cag>Tag	p.Q1229*	FN1_ENST00000345488.5_Nonsense_Mutation_p.Q1229*|FN1_ENST00000421182.1_Nonsense_Mutation_p.Q1229*|FN1_ENST00000357867.4_Nonsense_Mutation_p.Q1229*|FN1_ENST00000446046.1_Nonsense_Mutation_p.Q1229*|FN1_ENST00000443816.1_Nonsense_Mutation_p.Q1229*|FN1_ENST00000356005.4_Nonsense_Mutation_p.Q1229*|FN1_ENST00000354785.4_Nonsense_Mutation_p.Q1229*|FN1_ENST00000336916.4_Nonsense_Mutation_p.Q1229*|FN1_ENST00000432072.2_Nonsense_Mutation_p.Q1229*|FN1_ENST00000323926.6_Nonsense_Mutation_p.Q1229*|FN1_ENST00000346544.3_Nonsense_Mutation_p.Q1229*|FN1_ENST00000357009.2_Nonsense_Mutation_p.Q1229*			P02751	FINC_HUMAN	fibronectin 1	1229	Fibronectin type-III 7. {ECO:0000255|PROSITE-ProRule:PRU00316, ECO:0000255|PROSITE-ProRule:PRU00478, ECO:0000255|PROSITE-ProRule:PRU00479}.				acute-phase response (GO:0006953)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|calcium-independent cell-matrix adhesion (GO:0007161)|cell adhesion (GO:0007155)|cell-substrate junction assembly (GO:0007044)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|integrin activation (GO:0033622)|leukocyte migration (GO:0050900)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of axon extension (GO:0045773)|regulation of cell shape (GO:0008360)|response to wounding (GO:0009611)|substrate adhesion-dependent cell spreading (GO:0034446)	apical plasma membrane (GO:0016324)|basal lamina (GO:0005605)|blood microparticle (GO:0072562)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|platelet alpha granule lumen (GO:0031093)	collagen binding (GO:0005518)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|peptidase activator activity (GO:0016504)|protease binding (GO:0002020)		FN1/ALK(2)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Ocriplasmin(DB08888)	CAGGAGCTCTGATCAGCATGG	0.453																																						ENST00000354785.4																		FN1/ALK(2)	0				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109						c.(3685-3687)Cag>Tag		fibronectin 1	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						149	153	152					2																	216259362		2203	4300	6503	SO:0001587	stop_gained	2335				acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading	ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix	collagen binding|extracellular matrix structural constituent|heparin binding	g.chr2:216259362G>A		CCDS2399.1, CCDS2400.1, CCDS42813.1, CCDS42814.1, CCDS46510.1, CCDS46512.1	2q34	2014-01-30			ENSG00000115414	ENSG00000115414		"Fibronectin type III domain containing", "Endogenous ligands"	3778	protein-coding gene	gene with protein product	"migration-stimulating factor", "cold-insoluble globulin"	135600				2992939, 3003095	Standard	NM_054034		Approved	MSF, CIG, LETS, GFND2, FINC	uc002vfa.3	P02751	OTTHUMG00000133054	ENST00000359671.1:c.3685C>T	2.37:g.216259362G>A	ENSP00000352696:p.Gln1229*					FN1_ENST00000421182.1_Nonsense_Mutation_p.Q1229*|FN1_ENST00000346544.3_Nonsense_Mutation_p.Q1229*|FN1_ENST00000359671.1_Nonsense_Mutation_p.Q1229*|FN1_ENST00000357867.4_Nonsense_Mutation_p.Q1229*|FN1_ENST00000357009.2_Nonsense_Mutation_p.Q1229*|FN1_ENST00000356005.4_Nonsense_Mutation_p.Q1229*|FN1_ENST00000345488.5_Nonsense_Mutation_p.Q1229*|FN1_ENST00000336916.4_Nonsense_Mutation_p.Q1229*|FN1_ENST00000446046.1_Nonsense_Mutation_p.Q1229*|FN1_ENST00000443816.1_Nonsense_Mutation_p.Q1229*|FN1_ENST00000432072.2_Nonsense_Mutation_p.Q1229*|FN1_ENST00000323926.6_Nonsense_Mutation_p.Q1229*	p.Q1229*			P02751	FINC_HUMAN		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	24	4054	-		Renal(323;0.127)	1229			Fibronectin type-III 7.		B7ZLF0|E9PE77|E9PG29|O95609|O95610|Q14312|Q14325|Q14326|Q17RV7|Q564H7|Q585T2|Q59EH1|Q60FE4|Q68DP8|Q68DP9|Q68DT4|Q6LDP6|Q6MZS0|Q6MZU5|Q6N025|Q6N0A6|Q7Z391|Q86T27|Q8IVI8|Q96KP7|Q96KP8|Q96KP9|Q9H1B8|Q9HAP3|Q9UMK2	Nonsense_Mutation	SNP	ENST00000359671.1	37	c.3685C>T		.	.	.	.	.	.	.	.	.	.	G	46	12.231545	0.99648	.	.	ENSG00000115414	ENST00000421182;ENST00000323926;ENST00000336916;ENST00000357867;ENST00000354785;ENST00000265313;ENST00000359671;ENST00000346544;ENST00000345488;ENST00000357009;ENST00000446046;ENST00000443816;ENST00000432072;ENST00000356005	.	.	.	5.53	5.53	0.82687	.	0.000000	0.64402	D	0.000011	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.32370	T	0.25	.	19.4559	0.94889	0.0:0.0:1.0:0.0	.	.	.	.	X	1229	.	ENSP00000265313:Q1229X	Q	-	1	0	FN1	215967607	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.017000	0.70805	2.594000	0.87642	0.655000	0.94253	CAG		0.453	FN1-204	KNOWN	basic	protein_coding	protein_coding		NM_212476		6	144	0	0	0	1	0	6	144					A	216259362	G	A	216259362	4	1	259	1	0	0	0	0	0	1	0	0	5962	1299	45	3	3840	3	FN1	2	216259362	Nonsense_Mutation	SNP	G	TCGA-HI-7169-01A-11D-2114-08	36856802	216259362	26940011	10	12162											
TNP1	7141	broad.mit.edu	37	chr2	217724626	217724626	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atccctcactcaccgtcatcGccccgtttcctacttttcag	6	13	4	18	3	4	0	4	0	0	0	7	0	6	0	5	0	1	1	5	0	1	4	rs549619953	byFrequency	TCGA-HI-7169-01A-11D-2114-08	TCGA-HI-7169-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1fc4226-40ce-43b7-b92e-aa7cecd0cf4d	263e1015-1061-4ad2-8f7e-ed430d2d9e80	g.chr2:217724626G>A	ENST00000236979.2	-	1	161	c.132C>T	c.(130-132)ggC>ggT	p.G44G	AC007563.5_ENST00000447289.1_RNA|AC007563.5_ENST00000607591.1_RNA	NM_003284.3	NP_003275.1	P09430	STP1_HUMAN	transition protein 1 (during histone to protamine replacement)	44					chromatin remodeling (GO:0006338)|chromatin silencing (GO:0006342)|fertilization, exchange of chromosomal proteins (GO:0035042)|multicellular organismal development (GO:0007275)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome disassembly (GO:0006337)|sexual reproduction (GO:0019953)|single strand break repair (GO:0000012)|sperm motility (GO:0030317)|spermatid development (GO:0007286)|spermatid nucleus differentiation (GO:0007289)|spermatid nucleus elongation (GO:0007290)	male germ cell nucleus (GO:0001673)|nucleosome (GO:0000786)	DNA binding (GO:0003677)			large_intestine(1)|lung(1)|stomach(1)	3		Renal(207;0.0822)		Epithelial(149;8.97e-07)|all cancers(144;2.46e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CACCGTCATCGCCCCGTTTCC	0.547													G|||	3	0.000599042	8e-04	0.0014	5008	,	,		20147	0		0	False		,,,				2504	0.001					ENST00000236979.2																			0				large_intestine(1)|lung(1)|stomach(1)	3						c.(130-132)ggC>ggT		transition protein 1 (during histone to protamine replacement)							217	195	203					2																	217724626		2203	4300	6503	SO:0001819	synonymous_variant	7141				chromatin silencing|fertilization, exchange of chromosomal proteins|multicellular organismal development|nucleosome disassembly|single strand break repair|sperm motility|spermatid nucleus elongation	nucleosome	DNA binding	g.chr2:217724626G>A		CCDS2406.1	2q35-q36	2008-06-03			ENSG00000118245	ENSG00000118245			11951	protein-coding gene	gene with protein product		190231				2249851	Standard	NM_003284		Approved		uc002vgk.3	P09430	OTTHUMG00000133057	ENST00000236979.2:c.132C>T	2.37:g.217724626G>A						AC007563.5_ENST00000447289.1_RNA	p.G44G	NM_003284.3	NP_003275.1	P09430	STP1_HUMAN		Epithelial(149;8.97e-07)|all cancers(144;2.46e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	1	161	-		Renal(207;0.0822)	44						Silent	SNP	ENST00000236979.2	37	c.132C>T	CCDS2406.1																																																																																				0.547	TNP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256673.1	NM_003284		8	155	0	0	0	1	0	8	155					A	217724626	G	A	217724626	2	1	259	1	0	0	0	0	0	0	0	1	16330	1074	38	1		1	TNP1	2	217724626	Silent	SNP	G	TCGA-HI-7169-01A-11D-2114-08	1465264	217724626	25474747	11	12163											
EPHA4	2043	broad.mit.edu	37	chr2	222301119	222301119	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	atgtcaccgatctttcttacCctggtggtgtaagctgcttc	6	15	9	11	1	3	0	1	0	2	0	4	1	3	0	2	2	3	3	2	2	2	4			TCGA-HI-7169-01A-11D-2114-08	TCGA-HI-7169-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1fc4226-40ce-43b7-b92e-aa7cecd0cf4d	263e1015-1061-4ad2-8f7e-ed430d2d9e80	g.chr2:222301119C>T	ENST00000281821.2	-	13	2387	c.2346G>A	c.(2344-2346)agG>agA	p.R782R	EPHA4_ENST00000409938.1_Splice_Site_p.R782R|EPHA4_ENST00000409854.1_Splice_Site_p.R782R|EPHA4_ENST00000392071.4_Splice_Site_p.R731R	NM_004438.3	NP_004429.1	P54764	EPHA4_HUMAN	EPH receptor A4	782	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				adult walking behavior (GO:0007628)|cell adhesion (GO:0007155)|corticospinal tract morphogenesis (GO:0021957)|fasciculation of motor neuron axon (GO:0097156)|fasciculation of sensory neuron axon (GO:0097155)|glial cell migration (GO:0008347)|motor neuron axon guidance (GO:0008045)|negative regulation of axon regeneration (GO:0048681)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of Rho guanyl-nucleotide exchange factor activity (GO:2001108)|protein autophosphorylation (GO:0046777)|regulation of astrocyte differentiation (GO:0048710)|regulation of axonogenesis (GO:0050770)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of Rac GTPase activity (GO:0032314)|regulation of Rap GTPase activity (GO:0032317)	axon (GO:0030424)|axon terminus (GO:0043679)|axonal growth cone (GO:0044295)|cell junction (GO:0030054)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|mitochondrial outer membrane (GO:0005741)|neuromuscular junction (GO:0031594)|perikaryon (GO:0043204)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	ATP binding (GO:0005524)|DH domain binding (GO:0097161)|GPI-linked ephrin receptor activity (GO:0005004)|PH domain binding (GO:0042731)|protein kinase activity (GO:0004672)|transmembrane-ephrin receptor activity (GO:0005005)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Renal(207;0.0183)		Epithelial(121;5.38e-09)|all cancers(144;2.47e-06)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(261;0.0154)		TCTTTCTTACCCTGGTGGTGT	0.448																																						ENST00000281821.2																			0				NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49						c.e13+1		EPH receptor A4							69	56	60					2																	222301119		2203	4300	6503	SO:0001630	splice_region_variant	2043					integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr2:222301119C>T	L36645	CCDS2447.1	2q36.3	2013-02-11	2004-10-28		ENSG00000116106	ENSG00000116106	2.7.10.1	"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3388	protein-coding gene	gene with protein product		602188	"EphA4"	TYRO1		9267020	Standard	NM_004438		Approved	Hek8	uc002vmq.3	P54764	OTTHUMG00000133142	ENST00000281821.2:c.2346+1G>A	2.37:g.222301119C>T						EPHA4_ENST00000409938.1_Splice_Site_p.R782_splice|EPHA4_ENST00000392071.4_Splice_Site_p.R731_splice|EPHA4_ENST00000409854.1_Splice_Site_p.R782_splice	p.R782_splice	NM_004438.3	NP_004429.1	P54764	EPHA4_HUMAN		Epithelial(121;5.38e-09)|all cancers(144;2.47e-06)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(261;0.0154)	13	2387	-		Renal(207;0.0183)	782			Protein kinase.		A8K2P1|B2R601|B7Z6Q8|Q2M380	Splice_Site	SNP	ENST00000281821.2	37	c.2346_splice	CCDS2447.1																																																																																				0.448	EPHA4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256836.3		Silent	3	46	0	0	0	1	0	3	46					T	222301119	C	T	222301119	5	4	259	1	0	0	0	0	0	0	1	0	5169	637	22	3	634	3	EPHA4	2	222301119	Splice_Site	SNP	C	TCGA-HI-7169-01A-11D-2114-08	4576493	222301119	20898254	12	12164											
ANO7	50636	broad.mit.edu	37	chr2	242142854	242142854	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	caagtggaacaagtaccagcCcctggaccacgtgcgcaggt	11	5	12	13	2	0	0	0	0	0	0	0	2	0	2	4	3	4	2	4	3	4	1			TCGA-HI-7169-01A-11D-2114-08	TCGA-HI-7169-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1fc4226-40ce-43b7-b92e-aa7cecd0cf4d	263e1015-1061-4ad2-8f7e-ed430d2d9e80	g.chr2:242142854C>T	ENST00000274979.8	+	9	1095	c.992C>T	c.(991-993)cCc>cTc	p.P331L	ANO7_ENST00000402430.3_Missense_Mutation_p.P330L	NM_001001891.3	NP_001001891.2	Q6IWH7	ANO7_HUMAN	anoctamin 7	331					calcium activated galactosylceramide scrambling (GO:0061591)|calcium activated phosphatidylcholine scrambling (GO:0061590)|calcium activated phosphatidylserine scrambling (GO:0061589)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)|phospholipid scramblase activity (GO:0017128)			NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(14)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	32						AAGTACCAGCCCCTGGACCAC	0.687																																						ENST00000274979.8																			0				NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(14)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	32						c.(991-993)cCc>cTc		anoctamin 7							34	28	30					2																	242142854		2189	4299	6488	SO:0001583	missense	50636					cell junction|chloride channel complex|cytosol	chloride channel activity	g.chr2:242142854C>T	AY617079	CCDS33423.1, CCDS46563.1	2q37.3	2014-04-09	2008-08-28	2008-08-28	ENSG00000146205	ENSG00000146205		"Ion channels / Chloride channels : Calcium activated : Anoctamins"	31677	protein-coding gene	gene with protein product		605096	"transmembrane protein 16G"	PCANAP5, TMEM16G		14981236, 15375614, 24692353	Standard	NM_001001891		Approved	NGEP, PCANAP5L, IPCA-5	uc002wax.2	Q6IWH7	OTTHUMG00000151702	ENST00000274979.8:c.992C>T	2.37:g.242142854C>T	ENSP00000274979:p.Pro331Leu					ANO7_ENST00000402430.3_Missense_Mutation_p.P330L	p.P331L	NM_001001891.3	NP_001001891.2	Q6IWH7	ANO7_HUMAN			9	1095	+			331					Q6IWH6	Missense_Mutation	SNP	ENST00000274979.8	37	c.992C>T	CCDS33423.1	.	.	.	.	.	.	.	.	.	.	C	14.54	2.566759	0.45694	.	.	ENSG00000146205	ENST00000274979;ENST00000402430	T;T	0.68479	-0.33;-0.33	3.11	2.2	0.27929	.	0.000000	0.64402	U	0.000001	D	0.84170	0.5413	H	0.94385	3.53	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.84635	0.0692	10	0.87932	D	0	.	9.559	0.39357	0.0:0.8866:0.0:0.1134	.	331	Q6IWH7	ANO7_HUMAN	L	331;330	ENSP00000274979:P331L;ENSP00000385418:P330L	ENSP00000274979:P331L	P	+	2	0	ANO7	241791527	0.998000	0.40836	0.563000	0.28383	0.203000	0.24098	3.871000	0.56077	0.403000	0.25479	0.313000	0.20887	CCC		0.687	ANO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323509.1	NM_001001891		6	10	0	0	0	1	0	6	10					T	242142854	C	T	242142854	3	4	259	1	0	0	0	0	1	0	0	0	702	623	22	3	1098	3	ANO7	2	242142854	Missense_Mutation	SNP	C	TCGA-HI-7169-01A-11D-2114-08	19841735	242142854	1056519	13	12165											
NKIRAS1	28512	broad.mit.edu	37	chr3	23934708	23934708	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttcaatcagagttttccgatCtgtaacagtcacctcccaca	11	12	5	13	1	4	1	3	0	1	1	6	2	6	1	3	0	1	2	3	0	2	4			TCGA-HI-7169-01A-11D-2114-08	TCGA-HI-7169-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1fc4226-40ce-43b7-b92e-aa7cecd0cf4d	263e1015-1061-4ad2-8f7e-ed430d2d9e80	g.chr3:23934708C>T	ENST00000443659.2	-	4	1234	c.457G>A	c.(457-459)Gat>Aat	p.D153N	NKIRAS1_ENST00000388759.3_Missense_Mutation_p.D153N|NKIRAS1_ENST00000416026.2_Missense_Mutation_p.D153N|NKIRAS1_ENST00000425478.2_Missense_Mutation_p.D153N|NKIRAS1_ENST00000412028.1_Missense_Mutation_p.D153N|NKIRAS1_ENST00000421515.2_Missense_Mutation_p.D153N|NKIRAS1_ENST00000437230.1_Missense_Mutation_p.D153N|NKIRAS1_ENST00000415901.2_Missense_Mutation_p.D153N			Q9NYS0	KBRS1_HUMAN	NFKB inhibitor interacting Ras-like 1	153					I-kappaB kinase/NF-kappaB signaling (GO:0007249)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)	7						GTTTTCCGATCTGTAACAGTC	0.443																																						ENST00000443659.2																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)	7						c.(457-459)Gat>Aat		NFKB inhibitor interacting Ras-like 1							196	162	174					3																	23934708		2203	4300	6503	SO:0001583	missense	28512				I-kappaB kinase/NF-kappaB cascade|small GTPase mediated signal transduction	cytoplasm	GTP binding|GTPase activity	g.chr3:23934708C>T	AF229839	CCDS33717.1	3p24.1	2014-05-09	2004-05-20		ENSG00000197885	ENSG00000197885			17899	protein-coding gene	gene with protein product		604496	"NFKB inhibitor interacting Ras-like protein 1"			10657303	Standard	NM_020345		Approved	KBRAS1, kappaB-Ras1	uc003ccj.3	Q9NYS0	OTTHUMG00000155605	ENST00000443659.2:c.457G>A	3.37:g.23934708C>T	ENSP00000393785:p.Asp153Asn					NKIRAS1_ENST00000412028.1_Missense_Mutation_p.D153N|NKIRAS1_ENST00000425478.2_Missense_Mutation_p.D153N|NKIRAS1_ENST00000437230.1_Missense_Mutation_p.D153N|NKIRAS1_ENST00000421515.2_Missense_Mutation_p.D153N|NKIRAS1_ENST00000415901.2_Missense_Mutation_p.D153N|NKIRAS1_ENST00000388759.3_Missense_Mutation_p.D153N|NKIRAS1_ENST00000416026.2_Missense_Mutation_p.D153N	p.D153N			Q9NYS0	KBRS1_HUMAN			4	1234	-			153					Q96K18	Missense_Mutation	SNP	ENST00000443659.2	37	c.457G>A	CCDS33717.1	.	.	.	.	.	.	.	.	.	.	C	16.78	3.219084	0.58560	.	.	ENSG00000197885	ENST00000388759;ENST00000443659;ENST00000421515;ENST00000425478;ENST00000437230;ENST00000412028;ENST00000415901;ENST00000416026	T;T;T;T;T;T;T;T	0.80123	-1.34;-1.34;-1.34;-1.34;-1.34;-1.34;-1.34;-1.34	4.86	4.86	0.63082	Small GTP-binding protein domain (1);	0.062472	0.64402	D	0.000005	T	0.78553	0.4301	L	0.56280	1.765	0.80722	D	1	B;B	0.33919	0.378;0.432	B;B	0.37888	0.169;0.26	T	0.74529	-0.3635	10	0.15952	T	0.53	-14.5372	18.167	0.89731	0.0:1.0:0.0:0.0	.	153;153	G5E9P3;Q9NYS0	.;KBRS1_HUMAN	N	153	ENSP00000373411:D153N;ENSP00000393785:D153N;ENSP00000392307:D153N;ENSP00000400385:D153N;ENSP00000406543:D153N;ENSP00000396063:D153N;ENSP00000415225:D153N;ENSP00000394214:D153N	ENSP00000373411:D153N	D	-	1	0	NKIRAS1	23909712	1.000000	0.71417	0.149000	0.22428	0.343000	0.28985	7.647000	0.83462	2.522000	0.85027	0.591000	0.81541	GAT		0.443	NKIRAS1-004	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000340876.2	NM_020345		9	55	0	0	0	1	0	9	55					T	23934708	C	T	23934708	3	4	259	1	0	0	0	0	1	0	0	0	10444	913	32	3	125	3	NKIRAS1	3	23934708	Missense_Mutation	SNP	C	TCGA-HI-7169-01A-11D-2114-08		23934708	174087722	14	12166											
EPHA6	285220	broad.mit.edu	37	chr3	97194208	97194208	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtttcagcttctgacatggCagcagaacaaggacagattc	12	10	10	9	0	2	3	1	1	1	2	3	4	2	4	0	2	3	4	0	2	2	3			TCGA-HI-7169-01A-11D-2114-08	TCGA-HI-7169-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1fc4226-40ce-43b7-b92e-aa7cecd0cf4d	263e1015-1061-4ad2-8f7e-ed430d2d9e80	g.chr3:97194208C>G	ENST00000514100.1	+	5	325	c.83C>G	c.(82-84)gCa>gGa	p.A28G	EPHA6_ENST00000502694.1_Missense_Mutation_p.A28G|EPHA6_ENST00000389672.5_Missense_Mutation_p.A636G|EPHA6_ENST00000442602.2_Missense_Mutation_p.A2G	NM_001278300.1	NP_001265229.1	Q9UF33	EPHA6_HUMAN	EPH receptor A6	542						integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						TCTGACATGGCAGCAGAACAA	0.403																																						ENST00000389672.5																			0				NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						c.(1906-1908)gCa>gGa		EPH receptor A6							68	68	68					3																	97194208		1883	4110	5993	SO:0001583	missense	285220					integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr3:97194208C>G	AK092565	CCDS46876.1, CCDS54616.1, CCDS63697.1	3q12.1	2013-02-11	2004-10-28		ENSG00000080224	ENSG00000080224		"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	19296	protein-coding gene	gene with protein product		600066				12471243	Standard	NM_001080448		Approved	FLJ35246	uc010how.1	Q9UF33	OTTHUMG00000159208	ENST00000514100.1:c.83C>G	3.37:g.97194208C>G	ENSP00000421711:p.Ala28Gly					EPHA6_ENST00000514100.1_Missense_Mutation_p.A28G|EPHA6_ENST00000502694.1_Missense_Mutation_p.A28G|EPHA6_ENST00000442602.2_Missense_Mutation_p.A2G	p.A636G	NM_001080448.2	NP_001073917.2	Q9UF33	EPHA6_HUMAN			8	1945	+			541			Protein kinase.		D6RAL5	Missense_Mutation	SNP	ENST00000514100.1	37	c.1907C>G		.	.	.	.	.	.	.	.	.	.	C	34	5.345428	0.95807	.	.	ENSG00000080224	ENST00000389672;ENST00000514100;ENST00000502694;ENST00000442602	T;D;T;T	0.82433	-0.93;-1.61;-1.38;0.15	6.07	6.07	0.98685	.	.	.	.	.	D	0.86029	0.5835	L	0.36672	1.1	0.58432	D	0.999998	D;P;P;D	0.67145	0.996;0.935;0.592;0.995	P;P;B;P	0.57620	0.824;0.492;0.169;0.776	D	0.85409	0.1136	9	0.51188	T	0.08	.	20.2544	0.98414	0.0:1.0:0.0:0.0	.	2;541;28;28	B4DXQ6;Q9UF33;Q9UF33-2;D6RAL5	.;EPHA6_HUMAN;.;.	G	636;28;28;2	ENSP00000374323:A636G;ENSP00000421711:A28G;ENSP00000423950:A28G;ENSP00000403100:A2G	ENSP00000374323:A636G	A	+	2	0	EPHA6	98676898	1.000000	0.71417	0.930000	0.37139	0.995000	0.86356	6.724000	0.74747	2.885000	0.99019	0.655000	0.94253	GCA		0.403	EPHA6-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000359997.1	NM_001080448		3	34	0	0	0	1	0	3	34					G	97194208	C	G	97194208	3	3	259	1	0	0	0	0	1	0	0	0	5171	710	25	5	2005	5	EPHA6	3	97194208	Missense_Mutation	SNP	C	TCGA-HI-7169-01A-11D-2114-08	73259500	97194208	100828222	15	12167											
ARHGAP31	57514	broad.mit.edu	37	chr3	119133914	119133914	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctagcagagggaaaggagctAgggacacacctggggcacag	13	3	16	9	0	0	1	0	0	0	1	0	4	0	4	1	5	2	3	1	5	3	2			TCGA-HI-7169-01A-11D-2114-08	TCGA-HI-7169-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1fc4226-40ce-43b7-b92e-aa7cecd0cf4d	263e1015-1061-4ad2-8f7e-ed430d2d9e80	g.chr3:119133914A>C	ENST00000264245.4	+	12	3670	c.3138A>C	c.(3136-3138)ctA>ctC	p.L1046L		NM_020754.2	NP_065805.2	Q2M1Z3	RHG31_HUMAN	Rho GTPase activating protein 31	1046					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell junction (GO:0030054)|cytosol (GO:0005829)|lamellipodium (GO:0030027)	GTPase activator activity (GO:0005096)			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(3)|large_intestine(11)|lung(29)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	67						GAAAGGAGCTAGGGACACACC	0.592																																					Pancreas(7;176 297 5394 51128 51241)	ENST00000264245.4																			0				breast(5)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(3)|large_intestine(11)|lung(29)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	67						c.(3136-3138)ctA>ctC		Rho GTPase activating protein 31							107	121	116					3																	119133914		2107	4239	6346	SO:0001819	synonymous_variant	57514				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion|lamellipodium	GTPase activator activity	g.chr3:119133914A>C		CCDS43135.1	3q13.33	2011-06-29			ENSG00000031081	ENSG00000031081		"Rho GTPase activating proteins"	29216	protein-coding gene	gene with protein product		610911				9786927, 12819203, 16519628	Standard	NM_020754		Approved	CDGAP	uc003ecj.4	Q2M1Z3	OTTHUMG00000159362	ENST00000264245.4:c.3138A>C	3.37:g.119133914A>C							p.L1046L	NM_020754.2	NP_065805.2	Q2M1Z3	RHG31_HUMAN			12	3670	+			1046					Q9ULL6	Silent	SNP	ENST00000264245.4	37	c.3138A>C	CCDS43135.1																																																																																				0.592	ARHGAP31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354942.2			35	112	0	0	0	1	0	35	112					C	119133914	A	C	119133914	2	2	259	1	0	0	0	0	0	0	0	1	880	407	15	5		5	ARHGAP31	3	119133914	Silent	SNP	A	TCGA-HI-7169-01A-11D-2114-08	21939706	119133914	78888516	16	12168											
PLCH1	23007	broad.mit.edu	37	chr3	155199080	155199080	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggcacgactagcaatattgcGcactctgctctgacttctgg	8	11	10	12	2	3	1	0	1	3	0	3	2	3	1	0	2	3	4	0	2	3	4			TCGA-HI-7169-01A-11D-2114-08	TCGA-HI-7169-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1fc4226-40ce-43b7-b92e-aa7cecd0cf4d	263e1015-1061-4ad2-8f7e-ed430d2d9e80	g.chr3:155199080G>A	ENST00000340059.7	-	23	4758	c.4759C>T	c.(4759-4761)Cgc>Tgc	p.R1587C	PLCH1_ENST00000460012.1_Missense_Mutation_p.R1549C|PLCH1_ENST00000447496.2_3'UTR|PLCH1_ENST00000494598.1_Intron|PLCH1_ENST00000334686.6_Missense_Mutation_p.R1549C|PLCH1_ENST00000414191.1_Missense_Mutation_p.R1549C	NM_001130960.1	NP_001124432.1	Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	1587					inositol phosphate metabolic process (GO:0043647)|lipid catabolic process (GO:0016042)|phosphatidylinositol-mediated signaling (GO:0048015)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent phospholipase C activity (GO:0050429)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871)			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			GCAATATTGCGCACTCTGCTC	0.512																																						ENST00000460012.1																			0				NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107						c.(4645-4647)Cgc>Tgc		phospholipase C, eta 1							122	119	120					3																	155199080		2203	4300	6503	SO:0001583	missense	23007				lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr3:155199080G>A	AB028992	CCDS33881.1, CCDS46939.1, CCDS46940.1	3q25	2013-01-10	2006-03-16	2006-03-16	ENSG00000114805	ENSG00000114805	3.1.4.11	"EF-hand domain containing"	29185	protein-coding gene	gene with protein product		612835	"phospholipase C-like 3"	PLCL3		15702972	Standard	NM_014996		Approved	KIAA1069, MGC117152, DKFZp434C1372, PLCeta1	uc021xge.1	Q4KWH8	OTTHUMG00000158477	ENST00000340059.7:c.4759C>T	3.37:g.155199080G>A	ENSP00000345988:p.Arg1587Cys					PLCH1_ENST00000340059.7_Missense_Mutation_p.R1587C|PLCH1_ENST00000414191.1_Missense_Mutation_p.R1549C|PLCH1_ENST00000334686.6_Missense_Mutation_p.R1549C|PLCH1_ENST00000494598.1_Intron|PLCH1_ENST00000447496.2_3'UTR	p.R1549C			Q4KWH8	PLCH1_HUMAN	Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)		23	5002	-			1587					Q29RV9|Q4KWH9|Q68CN0|Q86XK4|Q9H9U2|Q9UPT3	Missense_Mutation	SNP	ENST00000340059.7	37	c.4645C>T	CCDS46939.1	.	.	.	.	.	.	.	.	.	.	G	17.24	3.339326	0.60963	.	.	ENSG00000114805	ENST00000460012;ENST00000340059;ENST00000334686;ENST00000414191	T;T;T;T	0.64085	-0.08;-0.05;-0.08;-0.08	5.26	5.26	0.73747	.	0.191252	0.44483	D	0.000450	T	0.77987	0.4213	M	0.75615	2.305	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.996	T	0.80527	-0.1343	10	0.87932	D	0	.	13.454	0.61189	0.0:0.0:0.8432:0.1568	.	1549;1587	Q4KWH8-2;Q4KWH8	.;PLCH1_HUMAN	C	1549;1587;1549;1549	ENSP00000417502:R1549C;ENSP00000345988:R1587C;ENSP00000335469:R1549C;ENSP00000412977:R1549C	ENSP00000335469:R1549C	R	-	1	0	PLCH1	156681774	1.000000	0.71417	0.980000	0.43619	0.522000	0.34438	6.709000	0.74665	2.433000	0.82419	0.655000	0.94253	CGC		0.512	PLCH1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000351125.1	NM_014996		9	123	0	0	0	1	0	9	123					A	155199080	G	A	155199080	3	1	259	1	0	0	0	0	1	0	0	0	12037	1087	38	1	326	1	PLCH1	3	155199080	Missense_Mutation	SNP	G	TCGA-HI-7169-01A-11D-2114-08	36065166	155199080	42823350	17	12169											
ATP13A5	344905	broad.mit.edu	37	chr3	193082053	193082053	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttccgtacattgtggtccCggtaaccaaacacctcctgg	8	11	8	14	2	0	0	0	0	0	0	3	0	3	0	5	3	3	2	5	3	3	4	rs78621247		TCGA-HI-7169-01A-11D-2114-08	TCGA-HI-7169-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1fc4226-40ce-43b7-b92e-aa7cecd0cf4d	263e1015-1061-4ad2-8f7e-ed430d2d9e80	g.chr3:193082053C>T	ENST00000342358.4	-	2	197	c.80G>A	c.(79-81)cGg>cAg	p.R27Q		NM_198505.2	NP_940907.2	Q4VNC0	AT135_HUMAN	ATPase type 13A5	27						integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)	p.R27L(1)|p.R27Q(1)		NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76	all_cancers(143;1.08e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000307)		ATTGTGGTCCCGGTAACCAAA	0.443																																						ENST00000342358.4																			2	Substitution - Missense(2)	p.R27L(1)|p.R27Q(1)	large_intestine(1)|lung(1)	NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76						c.(79-81)cGg>cAg		ATPase type 13A5							134	140	138					3																	193082053		2203	4300	6503	SO:0001583	missense	344905				ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding	g.chr3:193082053C>T	AK122613	CCDS33914.1	3q29	2010-04-20			ENSG00000187527	ENSG00000187527		"ATPases / P-type"	31789	protein-coding gene	gene with protein product							Standard	NM_198505		Approved	FLJ16025	uc011bsq.2	Q4VNC0	OTTHUMG00000156101	ENST00000342358.4:c.80G>A	3.37:g.193082053C>T	ENSP00000341942:p.Arg27Gln						p.R27Q	NM_198505.2	NP_940907.2	Q4VNC0	AT135_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000307)	2	197	-	all_cancers(143;1.08e-08)|Ovarian(172;0.0386)		27					Q6UWS4|Q6ZWL0	Missense_Mutation	SNP	ENST00000342358.4	37	c.80G>A	CCDS33914.1	.	.	.	.	.	.	.	.	.	.	C	9.539	1.112848	0.20795	.	.	ENSG00000187527	ENST00000342358;ENST00000446087	T;T	0.25579	1.79;1.79	5.5	-4.64	0.03349	.	1.440510	0.04190	N	0.328176	T	0.23846	0.0577	L	0.44542	1.39	0.09310	N	0.999995	B	0.22683	0.073	B	0.24701	0.055	T	0.33369	-0.9871	10	0.30078	T	0.28	0.0178	13.4643	0.61245	0.0:0.3546:0.0:0.6454	.	27	Q4VNC0	AT135_HUMAN	Q	27;49	ENSP00000341942:R27Q;ENSP00000389416:R49Q	ENSP00000341942:R27Q	R	-	2	0	ATP13A5	194564747	0.001000	0.12720	0.003000	0.11579	0.043000	0.13939	-0.477000	0.06583	-0.845000	0.04179	-0.142000	0.14014	CGG		0.443	ATP13A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343012.1	NM_198505		8	181	0	0	0	1	0	8	181					T	193082053	C	T	193082053	3	4	259	1	0	0	0	0	1	0	0	0	1127	652	23	2	3690	2	ATP13A5	3	193082053	Missense_Mutation	SNP	C	TCGA-HI-7169-01A-11D-2114-08	37882973	193082053	4940377	18	12170											
ANK2	287	broad.mit.edu	37	chr4	114214649	114214649	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctgggctacatctccgtggtCgacaccctgaaggttgtgac	7	10	12	12	2	1	2	0	2	1	0	3	3	1	2	2	3	1	2	2	3	2	2			TCGA-HI-7169-01A-11D-2114-08	TCGA-HI-7169-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1fc4226-40ce-43b7-b92e-aa7cecd0cf4d	263e1015-1061-4ad2-8f7e-ed430d2d9e80	g.chr4:114214649C>T	ENST00000357077.4	+	22	2483	c.2430C>T	c.(2428-2430)gtC>gtT	p.V810V	ANK2_ENST00000264366.6_Silent_p.V810V|ANK2_ENST00000394537.3_Silent_p.V810V|ANK2_ENST00000509550.1_Silent_p.V19V|ANK2_ENST00000506722.1_Silent_p.V789V	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	810					atrial cardiac muscle cell action potential (GO:0086014)|atrial cardiac muscle cell to AV node cell communication (GO:0086066)|atrial septum development (GO:0003283)|axon guidance (GO:0007411)|cardiac muscle contraction (GO:0060048)|cellular calcium ion homeostasis (GO:0006874)|cellular protein localization (GO:0034613)|membrane depolarization during SA node cell action potential (GO:0086046)|paranodal junction assembly (GO:0030913)|positive regulation of calcium ion transmembrane transporter activity (GO:1901021)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cation channel activity (GO:2001259)|positive regulation of gene expression (GO:0010628)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein localization to cell surface (GO:0034394)|protein localization to endoplasmic reticulum (GO:0070972)|protein localization to M-band (GO:0036309)|protein localization to organelle (GO:0033365)|protein localization to plasma membrane (GO:0072659)|protein localization to T-tubule (GO:0036371)|protein stabilization (GO:0050821)|protein targeting to plasma membrane (GO:0072661)|regulation of calcium ion transmembrane transporter activity (GO:1901019)|regulation of calcium ion transport (GO:0051924)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to methylmercury (GO:0051597)|SA node cell action potential (GO:0086015)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|T-tubule organization (GO:0033292)|ventricular cardiac muscle cell action potential (GO:0086005)	A band (GO:0031672)|basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intracellular (GO:0005622)|M band (GO:0031430)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|potassium channel regulator activity (GO:0015459)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		TCTCCGTGGTCGACACCCTGA	0.488																																						ENST00000357077.4																			0				NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248						c.(2428-2430)gtC>gtT		ankyrin 2, neuronal							161	146	151					4																	114214649		2203	4300	6503	SO:0001819	synonymous_variant	287				axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding	g.chr4:114214649C>T	M37123	CCDS3702.1, CCDS43261.1, CCDS54796.1	4q25-q26	2014-09-17	2003-03-12		ENSG00000145362	ENSG00000145362		"Ankyrin repeat domain containing"	493	protein-coding gene	gene with protein product		106410	"long (electrocardiographic) QT syndrome 4"	LQT4		7485162, 12571597	Standard	NM_001148		Approved		uc003ibe.4	Q01484	OTTHUMG00000132912	ENST00000357077.4:c.2430C>T	4.37:g.114214649C>T						ANK2_ENST00000509550.1_Silent_p.V19V|ANK2_ENST00000506722.1_Silent_p.V789V|ANK2_ENST00000264366.6_Silent_p.V810V|ANK2_ENST00000394537.3_Silent_p.V810V	p.V810V	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)	22	2483	+		Ovarian(17;0.0448)|Hepatocellular(203;0.218)	810					Q01485|Q08AC7|Q08AC8|Q7Z3L5	Silent	SNP	ENST00000357077.4	37	c.2430C>T	CCDS3702.1																																																																																				0.488	ANK2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256422.2	NM_001148		7	72	0	0	0	1	0	7	72					T	114214649	C	T	114214649	2	4	259	1	0	0	0	0	0	0	0	1	621	871	31	2		2	ANK2	4	114214649	Silent	SNP	C	TCGA-HI-7169-01A-11D-2114-08		114214649	76939627	19	12171											
UFSP2	55325	broad.mit.edu	37	chr4	186329110	186329110	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgacaaacaggatttttgaCgttataccgatcaattggtt	12	14	8	7	2	1	2	1	2	0	0	1	4	1	3	1	2	2	2	1	2	4	6			TCGA-HI-7169-01A-11D-2114-08	TCGA-HI-7169-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1fc4226-40ce-43b7-b92e-aa7cecd0cf4d	263e1015-1061-4ad2-8f7e-ed430d2d9e80	g.chr4:186329110C>T	ENST00000264689.6	-	9	1217	c.1101G>A	c.(1099-1101)acG>acA	p.T367T		NM_018359.3	NP_060829.2	Q9NUQ7	UFSP2_HUMAN	UFM1-specific peptidase 2	367						cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)	small conjugating protein-specific protease activity (GO:0019783)|thiolester hydrolase activity (GO:0016790)			endometrium(3)|kidney(1)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	12		all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;0.00109)|Colorectal(36;0.0215)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)		all cancers(43;3.4e-25)|Epithelial(43;2.23e-22)|OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;8.1e-05)|GBM - Glioblastoma multiforme(59;0.000148)|STAD - Stomach adenocarcinoma(60;0.000782)|LUSC - Lung squamous cell carcinoma(40;0.00939)|COAD - Colon adenocarcinoma(29;0.0108)|READ - Rectum adenocarcinoma(43;0.166)		GGATTTTTGACGTTATACCGA	0.373																																						ENST00000264689.6																			0				endometrium(3)|kidney(1)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						c.(1099-1101)acG>acA		UFM1-specific peptidase 2							98	87	91					4																	186329110		2203	4300	6503	SO:0001819	synonymous_variant	55325					endoplasmic reticulum|nucleus	small conjugating protein-specific protease activity	g.chr4:186329110C>T	AK002062	CCDS3842.1	4q35.1	2008-03-25	2008-03-25	2008-03-25	ENSG00000109775	ENSG00000109775			25640	protein-coding gene	gene with protein product		611482	"chromosome 4 open reading frame 20"	C4orf20		17182609	Standard	NM_018359		Approved	FLJ11200	uc003ixo.2	Q9NUQ7	OTTHUMG00000160441	ENST00000264689.6:c.1101G>A	4.37:g.186329110C>T							p.T367T	NM_018359.3	NP_060829.2	Q9NUQ7	UFSP2_HUMAN		all cancers(43;3.4e-25)|Epithelial(43;2.23e-22)|OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;8.1e-05)|GBM - Glioblastoma multiforme(59;0.000148)|STAD - Stomach adenocarcinoma(60;0.000782)|LUSC - Lung squamous cell carcinoma(40;0.00939)|COAD - Colon adenocarcinoma(29;0.0108)|READ - Rectum adenocarcinoma(43;0.166)	9	1217	-		all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;0.00109)|Colorectal(36;0.0215)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)	367					Q6IA77|Q96FS3	Silent	SNP	ENST00000264689.6	37	c.1101G>A	CCDS3842.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	13.95|13.95	2.391267|2.391267	0.42410|0.42410	.|.	.|.	ENSG00000109775|ENSG00000109775	ENST00000509180|ENST00000511485	.|.	.|.	.|.	5.87|5.87	-1.41|-1.41	0.08941|0.08941	.|.	.|.	.|.	.|.	.|.	T|T	0.42765|0.42765	0.1217|0.1217	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.30475|0.30475	-0.9977|-0.9977	4|4	.|.	.|.	.|.	-5.3052|-5.3052	3.4035|3.4035	0.07332|0.07332	0.3078:0.3647:0.0602:0.2673|0.3078:0.3647:0.0602:0.2673	.|.	.|.	.|.	.|.	H|I	96|266	.|.	.|.	R|V	-|-	2|1	0|0	UFSP2|UFSP2	186566104|186566104	0.941000|0.941000	0.31946|0.31946	0.994000|0.994000	0.49952|0.49952	0.834000|0.834000	0.47266|0.47266	0.132000|0.132000	0.15891|0.15891	-0.041000|-0.041000	0.13558|0.13558	-0.259000|-0.259000	0.10710|0.10710	CGT|GTC		0.373	UFSP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360589.2	NM_018359		3	55	0	0	0	1	0	3	55					T	186329110	C	T	186329110	2	4	259	1	0	0	0	0	0	0	0	1	16935	523	19	1		1	UFSP2	4	186329110	Silent	SNP	C	TCGA-HI-7169-01A-11D-2114-08	72114461	186329110	4825166	20	12172											
RICTOR	253260	broad.mit.edu	37	chr5	38945049	38945049	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgcttttggtgctgctagcTgagccttcttgagacacccc	5	13	11	12	0	1	2	0	2	1	1	1	3	1	2	3	1	5	4	3	1	1	5			TCGA-HI-7169-01A-11D-2114-08	TCGA-HI-7169-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1fc4226-40ce-43b7-b92e-aa7cecd0cf4d	263e1015-1061-4ad2-8f7e-ed430d2d9e80	g.chr5:38945049T>G	ENST00000357387.3	-	35	4785	c.4755A>C	c.(4753-4755)tcA>tcC	p.S1585S	RICTOR_ENST00000296782.5_Silent_p.S1609S	NM_152756.3	NP_689969.2			RPTOR independent companion of MTOR, complex 2											NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|prostate(3)|skin(5)	75	all_lung(31;0.000396)					TGCTGCTAGCTGAGCCTTCTT	0.408																																						ENST00000357387.3																			0				NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|prostate(3)|skin(5)	75						c.(4753-4755)tcA>tcC		RPTOR independent companion of MTOR, complex 2							117	117	117					5																	38945049		2203	4300	6503	SO:0001819	synonymous_variant	253260				actin cytoskeleton reorganization|embryo development|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of TOR signaling cascade|regulation of protein kinase B signaling cascade|T cell costimulation	cytosol|TORC2 complex	protein binding	g.chr5:38945049T>G		CCDS34148.1, CCDS68861.1	5p13.1	2009-07-09			ENSG00000164327	ENSG00000164327			28611	protein-coding gene	gene with protein product	"rapamycin-insensitive companion of mTOR", "pianissimo"	609022				12477932	Standard	XM_005248278		Approved	MGC39830, AVO3, PIA, KIAA1999	uc003jlp.2	Q6R327	OTTHUMG00000162037	ENST00000357387.3:c.4755A>C	5.37:g.38945049T>G						RICTOR_ENST00000296782.5_Silent_p.S1609S	p.S1585S	NM_152756.3	NP_689969.2	Q6R327	RICTR_HUMAN			35	4785	-	all_lung(31;0.000396)		1585						Silent	SNP	ENST00000357387.3	37	c.4755A>C	CCDS34148.1																																																																																				0.408	RICTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366985.1	NM_152756		39	140	0	0	0	1	0	39	140					G	38945049	T	G	38945049	2	3	259	1	0	0	0	0	0	0	0	1	13358	1567	55	5		5	RICTOR	5	38945049	Silent	SNP	T	TCGA-HI-7169-01A-11D-2114-08		38945049	141970211	21	12173											
TAF9	6880	broad.mit.edu	37	chr5	68660800	68660800	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcatagtcatcatcatcatcAtcgtcatcatcatcatcttc	11	15	2	13	1	11	0	10	0	1	0	13	0	11	0	0	0	0	0	0	0	1	2	rs548057941	byFrequency	TCGA-HI-7169-01A-11D-2114-08	TCGA-HI-7169-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1fc4226-40ce-43b7-b92e-aa7cecd0cf4d	263e1015-1061-4ad2-8f7e-ed430d2d9e80	g.chr5:68660800A>G	ENST00000328663.4	-	3	1231	c.765T>C	c.(763-765)gaT>gaC	p.D255D	TAF9_ENST00000380818.3_Intron|TAF9_ENST00000506736.1_Silent_p.D255D|TAF9_ENST00000512561.1_Intron|TAF9_ENST00000502819.1_Intron|TAF9_ENST00000380822.4_Intron|TAF9_ENST00000217893.5_Silent_p.D255D	NM_001015892.1	NP_001015892.1	Q16594	TAF9_HUMAN	TAF9 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 32kDa	255	Poly-Asp.				cellular response to DNA damage stimulus (GO:0006974)|chromatin organization (GO:0006325)|gene expression (GO:0010467)|histone H3 acetylation (GO:0043966)|negative regulation of apoptotic process (GO:0043066)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:1902166)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|positive regulation of cell growth (GO:0030307)|positive regulation of response to cytokine stimulus (GO:0060760)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein stabilization (GO:0050821)|response to interleukin-1 (GO:0070555)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|PCAF complex (GO:0000125)|pre-snoRNP complex (GO:0070761)|STAGA complex (GO:0030914)|transcription factor TFIID complex (GO:0005669)|transcription factor TFTC complex (GO:0033276)	activating transcription factor binding (GO:0033613)|C2H2 zinc finger domain binding (GO:0070742)|DNA binding (GO:0003677)|p53 binding (GO:0002039)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)	p.D255D(1)		central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(4)|urinary_tract(1)	8		Lung NSC(167;7.26e-05)|Prostate(74;0.0143)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;1.1e-56)|Epithelial(20;9.54e-53)|all cancers(19;2.2e-48)|Lung(70;0.0176)		catcatcatcatcgtcatcat	0.318													A|||	4	0.000798722	0	0.0058	5008	,	,		23660	0		0	False		,,,				2504	0					ENST00000328663.4																			1	Substitution - coding silent(1)	p.D255D(1)	lung(1)	central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(4)|urinary_tract(1)	8						c.(763-765)gaT>gaC		TAF9 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 32kDa							115	107	110					5																	68660800		2203	4300	6503	SO:0001819	synonymous_variant	6880					Cajal body	adenylate kinase activity|ATP binding|protein binding	g.chr5:68660800A>G	U21858	CCDS4001.1, CCDS4002.1, CCDS43324.1	5q13.2	2013-09-26	2002-08-29	2001-12-07	ENSG00000085231	ENSG00000085231			11542	protein-coding gene	gene with protein product		600822	"TATA box binding protein (TBP)-associated factor, RNA polymerase II, G, 32kD"	TAF2G		10191103, 15630091, 16079131	Standard	NM_001015892		Approved	TAFII31, TAFII32, TAFIID32, MGC5067, CGI-137, MGC1603, MGC3647, AD-004	uc003jwa.3	Q16594	OTTHUMG00000099359	ENST00000328663.4:c.765T>C	5.37:g.68660800A>G						TAF9_ENST00000512561.1_Intron|TAF9_ENST00000506736.1_Silent_p.D255D|TAF9_ENST00000217893.5_Silent_p.D255D|TAF9_ENST00000502819.1_Intron|TAF9_ENST00000380818.3_Intron|TAF9_ENST00000380822.4_Intron	p.D255D	NM_001015892.1	NP_001015892.1	Q9Y3D8	KAD6_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;1.1e-56)|Epithelial(20;9.54e-53)|all cancers(19;2.2e-48)|Lung(70;0.0176)	3	1231	-		Lung NSC(167;7.26e-05)|Prostate(74;0.0143)|Ovarian(174;0.0448)|Breast(144;0.198)	59					D3DWA3|Q5U0D1|Q9BTS1	Silent	SNP	ENST00000328663.4	37	c.765T>C	CCDS4002.1																																																																																				0.318	TAF9-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000216803.1	NM_003187		3	57	0	0	0	1	0	3	57					G	68660800	A	G	68660800	2	3	259	1	0	0	0	0	0	0	0	1	15532	214	8	4		4	TAF9	5	68660800	Silent	SNP	A	TCGA-HI-7169-01A-11D-2114-08	29715751	68660800	112254460	22	12174											
DMXL1	1657	broad.mit.edu	37	chr5	118533574	118533574	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aattatatcgcaagtcatacCgccgaagagagtttgtctgc	12	11	9	9	3	2	1	1	0	1	1	3	3	2	1	2	0	2	2	2	0	6	4	rs186037183	byFrequency	TCGA-HI-7169-01A-11D-2114-08	TCGA-HI-7169-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1fc4226-40ce-43b7-b92e-aa7cecd0cf4d	263e1015-1061-4ad2-8f7e-ed430d2d9e80	g.chr5:118533574C>A	ENST00000311085.8	+	32	7748	c.7668C>A	c.(7666-7668)acC>acA	p.T2556T	DMXL1_ENST00000539542.1_Silent_p.T2556T	NM_005509.4	NP_005500.4	Q9Y485	DMXL1_HUMAN	Dmx-like 1	2556										breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)	86		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)		CAAGTCATACCGCCGAAGAGA	0.433																																						ENST00000311085.8																			0				breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)	86						c.(7666-7668)acC>acA		Dmx-like 1							122	122	122					5																	118533574		2202	4300	6502	SO:0001819	synonymous_variant	1657							g.chr5:118533574C>A	AJ005821	CCDS4125.1, CCDS75289.1	5q22	2013-01-10			ENSG00000172869	ENSG00000172869		"WD repeat domain containing"	2937	protein-coding gene	gene with protein product		605671				10708522	Standard	NM_005509		Approved		uc003ksd.2	Q9Y485	OTTHUMG00000128898	ENST00000311085.8:c.7668C>A	5.37:g.118533574C>A						DMXL1_ENST00000539542.1_Silent_p.T2556T	p.T2556T	NM_005509.4	NP_005500.4	Q9Y485	DMXL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)	32	7748	+		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)	2556						Silent	SNP	ENST00000311085.8	37	c.7668C>A	CCDS4125.1																																																																																				0.433	DMXL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250862.1	NM_005509		3	140	1	0	1	1	1	3	140					A	118533574	C	A	118533574	2	1	259	1	0	0	0	0	0	0	0	1	4594	639	23	5		5	DMXL1	5	118533574	Silent	SNP	C	TCGA-HI-7169-01A-11D-2114-08	49872774	118533574	62381686	23	12175											
PCDHGB1	56104	broad.mit.edu	37	chr5	140729950	140729950	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	attccagaggagctagccaaCggctcacgggtggggaaact	11	6	14	10	2	1	1	1	0	0	1	2	3	2	3	2	5	4	2	2	5	3	2			TCGA-HI-7169-01A-11D-2114-08	TCGA-HI-7169-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1fc4226-40ce-43b7-b92e-aa7cecd0cf4d	263e1015-1061-4ad2-8f7e-ed430d2d9e80	g.chr5:140729950C>T	ENST00000523390.1	+	1	123	c.123C>T	c.(121-123)aaC>aaT	p.N41N	PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018922.2|NM_032095.1	NP_061745.1|NP_115266.1	Q9Y5G3	PCDGD_HUMAN	protocadherin gamma subfamily B, 1	41	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)	16			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGCTAGCCAACGGCTCACGGG	0.522											OREG0016856	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000523390.1																			0				central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)	16						c.(121-123)aaC>aaT									51	51	51					5																	140729950		1893	4128	6021	SO:0001819	synonymous_variant	0							g.chr5:140729950C>T	AF152517	CCDS54923.1, CCDS75330.1	5q31	2010-01-26				ENSG00000254221		"Cadherins / Protocadherins : Clustered"	8708	other	protocadherin	"protocadherin gamma subfamily B, 1, isoform 2"	606299				10380929	Standard	NM_018922		Approved	PCDH-GAMMA-B1		Q9Y5G3		ENST00000523390.1:c.123C>T	5.37:g.140729950C>T			OREG0016856	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1658	PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron	p.N41N	NM_018922.2|NM_032095.1	NP_061745.1|NP_115266.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	123	+								Q3SY75|Q9Y5C8	Silent	SNP	ENST00000523390.1	37	c.123C>T	CCDS54923.1																																																																																				0.522	PCDHGB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374740.1	NM_018922		5	20	0	0	0	1	0	5	20					T	140729950	C	T	140729950	2	4	259	1	0	0	0	0	0	0	0	1	11562	535	19	1		1	PCDHGB1	5	140729950	Silent	SNP	C	TCGA-HI-7169-01A-11D-2114-08	22196376	140729950	40185310	24	12176											
SH3TC2	79628	broad.mit.edu	37	chr5	148406691	148406691	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tggttatgcacatctcccacCtcctgggctctgttcaaggc	6	12	9	14	0	3	0	1	0	2	0	5	0	4	0	3	3	1	4	3	3	2	2			TCGA-HI-7169-01A-11D-2114-08	TCGA-HI-7169-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1fc4226-40ce-43b7-b92e-aa7cecd0cf4d	263e1015-1061-4ad2-8f7e-ed430d2d9e80	g.chr5:148406691C>A	ENST00000515425.1	-	11	2705	c.2604G>T	c.(2602-2604)gaG>gaT	p.E868D	SH3TC2_ENST00000512049.1_Missense_Mutation_p.E861D|SH3TC2_ENST00000394358.2_Missense_Mutation_p.E753D|SH3TC2_ENST00000513340.1_5'Flank|SH3TC2_ENST00000538184.1_Missense_Mutation_p.E415D	NM_024577.3	NP_078853.2	Q8TF17	S3TC2_HUMAN	SH3 domain and tetratricopeptide repeats 2	868					cell death (GO:0008219)|peripheral nervous system myelin maintenance (GO:0032287)|regulation of ERBB signaling pathway (GO:1901184)|regulation of intracellular protein transport (GO:0033157)	cytoplasmic vesicle (GO:0031410)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	39			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CATCTCCCACCTCCTGGGCTC	0.572																																						ENST00000538184.1																			0				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	39						c.(1243-1245)gaG>gaT		SH3 domain and tetratricopeptide repeats 2							107	116	113					5																	148406691		2203	4300	6503	SO:0001583	missense	79628						binding	g.chr5:148406691C>A	AK127248	CCDS4293.1	5q32	2014-09-17			ENSG00000169247	ENSG00000169247		"Tetratricopeptide (TTC) repeat domain containing"	29427	protein-coding gene	gene with protein product		608206				14574644	Standard	NM_024577		Approved	KIAA1985, CMT4C	uc003lpu.3	Q8TF17	OTTHUMG00000129930	ENST00000515425.1:c.2604G>T	5.37:g.148406691C>A	ENSP00000423660:p.Glu868Asp					SH3TC2_ENST00000394358.2_Missense_Mutation_p.E753D|SH3TC2_ENST00000515425.1_Missense_Mutation_p.E868D|SH3TC2_ENST00000512049.1_Missense_Mutation_p.E861D	p.E415D			Q8TF17	S3TC2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		7	2133	-			868					B3KWE5|Q14CC0|Q14CF5|Q9H8I5	Missense_Mutation	SNP	ENST00000515425.1	37	c.1245G>T	CCDS4293.1	.	.	.	.	.	.	.	.	.	.	C	12.32	1.901935	0.33535	.	.	ENSG00000169247	ENST00000538184;ENST00000515425;ENST00000512049;ENST00000394358	T;T;T;T	0.78364	-1.17;-0.97;-0.98;-0.97	6.16	3.29	0.37713	Tetratricopeptide-like helical (1);	0.056494	0.64402	N	0.000002	T	0.75889	0.3911	L	0.58969	1.84	0.36364	D	0.860869	B;B;B;B	0.31241	0.284;0.205;0.315;0.205	B;B;B;B	0.41894	0.179;0.369;0.369;0.369	T	0.77392	-0.2605	10	0.66056	D	0.02	-17.8326	6.2139	0.20644	0.1287:0.6652:0.0:0.2062	.	753;861;868;868	C9JLC3;Q14CC0;E9PDF1;Q8TF17	.;.;.;S3TC2_HUMAN	D	415;868;861;753	ENSP00000441427:E415D;ENSP00000423660:E868D;ENSP00000421860:E861D;ENSP00000377886:E753D	ENSP00000377886:E753D	E	-	3	2	SH3TC2	148386884	0.026000	0.19158	0.362000	0.25862	0.968000	0.65278	0.201000	0.17276	0.850000	0.35239	0.650000	0.86243	GAG		0.572	SH3TC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252186.2	NM_024577		5	184	1	0	1	1	1	5	184					A	148406691	C	A	148406691	3	1	259	1	0	0	0	0	1	0	0	0	14262	680	24	5	1290	5	SH3TC2	5	148406691	Missense_Mutation	SNP	C	TCGA-HI-7169-01A-11D-2114-08	7676741	148406691	32508569	25	12177											
RUFY1	80230	broad.mit.edu	37	chr5	179023637	179023637	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcagcaggagctgggcgggaGgatcggcgccctgcagctgc	6	4	19	12	3	0	0	0	0	0	0	1	3	0	3	1	5	5	5	1	5	0	0			TCGA-HI-7169-01A-11D-2114-08	TCGA-HI-7169-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1fc4226-40ce-43b7-b92e-aa7cecd0cf4d	263e1015-1061-4ad2-8f7e-ed430d2d9e80	g.chr5:179023637G>A	ENST00000319449.4	+	13	1598	c.1586G>A	c.(1585-1587)aGg>aAg	p.R529K	RP11-1379J22.2_ENST00000500262.1_RNA|RUFY1_ENST00000393438.2_Missense_Mutation_p.R421K|RUFY1_ENST00000377001.2_3'UTR|RUFY1_ENST00000437570.2_Missense_Mutation_p.R421K	NM_025158.4	NP_079434.3	Q96T51	RUFY1_HUMAN	RUN and FYVE domain containing 1	529					endocytosis (GO:0006897)|regulation of endocytosis (GO:0030100)	cytoplasm (GO:0005737)|endosome (GO:0005768)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)	lipid binding (GO:0008289)|protein transporter activity (GO:0008565)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	26	all_cancers(89;0.00018)|all_epithelial(37;8.37e-05)|Renal(175;0.000159)|Lung NSC(126;0.00108)|all_lung(126;0.00195)	all_cancers(40;0.0322)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CTGGGCGGGAGGATCGGCGCC	0.687										HNSCC(44;0.11)																												ENST00000319449.4																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	26						c.(1585-1587)aGg>aAg		RUN and FYVE domain containing 1							48	58	55					5																	179023637		2191	4284	6475	SO:0001583	missense	80230				endocytosis|protein transport	early endosome membrane	lipid binding|zinc ion binding	g.chr5:179023637G>A	AF361055	CCDS4445.2, CCDS34312.1	5q35.3	2008-02-05			ENSG00000176783	ENSG00000176783		"Zinc fingers, FYVE domain containing"	19760	protein-coding gene	gene with protein product		610327				11877430	Standard	NM_001040451		Approved	FLJ22251, ZFYVE12, RABIP4	uc003mka.2	Q96T51	OTTHUMG00000130913	ENST00000319449.4:c.1586G>A	5.37:g.179023637G>A	ENSP00000325594:p.Arg529Lys	HNSCC(44;0.11)				RUFY1_ENST00000377001.2_3'UTR|RP11-1379J22.2_ENST00000500262.1_RNA|RUFY1_ENST00000437570.2_Missense_Mutation_p.R421K|RUFY1_ENST00000393438.2_Missense_Mutation_p.R421K	p.R529K	NM_025158.4	NP_079434.3	Q96T51	RUFY1_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		13	1598	+	all_cancers(89;0.00018)|all_epithelial(37;8.37e-05)|Renal(175;0.000159)|Lung NSC(126;0.00108)|all_lung(126;0.00195)	all_cancers(40;0.0322)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)|all_hematologic(541;0.21)	529					Q59FF3|Q71S93|Q9H6I3	Missense_Mutation	SNP	ENST00000319449.4	37	c.1586G>A	CCDS4445.2	.	.	.	.	.	.	.	.	.	.	G	0.014	-1.590264	0.00864	.	.	ENSG00000176783	ENST00000319449;ENST00000437570;ENST00000393438;ENST00000360569	T;T;T	0.46451	0.87;0.87;0.87	5.29	0.688	0.18027	.	0.327029	0.34986	N	0.003529	T	0.14141	0.0342	N	0.03917	-0.325	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.33879	-0.9851	10	0.02654	T	1	-9.6173	8.1884	0.31352	0.4358:0.0:0.5642:0.0	.	529	Q96T51	RUFY1_HUMAN	K	529;421;421;131	ENSP00000325594:R529K;ENSP00000390025:R421K;ENSP00000377087:R421K	ENSP00000325594:R529K	R	+	2	0	RUFY1	178956243	0.001000	0.12720	0.000000	0.03702	0.004000	0.04260	1.282000	0.33226	0.265000	0.21872	-0.378000	0.06908	AGG		0.687	RUFY1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000253505.2	NM_001040451		3	111	0	0	0	1	0	3	111					A	179023637	G	A	179023637	3	1	259	1	0	0	0	0	1	0	0	0	13738	1000	35	3	1636	3	RUFY1	5	179023637	Missense_Mutation	SNP	G	TCGA-HI-7169-01A-11D-2114-08	30616946	179023637	1891623	26	12178											
HIST1H3C	8352	broad.mit.edu	37	chr6	26045693	26045693	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccggcggcaaagctccgcgcAagcagcttgctactaaagca	11	5	11	14	4	0	0	0	0	0	0	1	0	1	0	2	2	6	7	2	2	5	3			TCGA-HI-7169-01A-11D-2114-08	TCGA-HI-7169-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1fc4226-40ce-43b7-b92e-aa7cecd0cf4d	263e1015-1061-4ad2-8f7e-ed430d2d9e80	g.chr6:26045693A>C	ENST00000540144.1	+	1	55	c.55A>C	c.(55-57)Aag>Cag	p.K19Q	HIST1H2BB_ENST00000357905.2_5'Flank	NM_003531.2	NP_003522.1	P68431	H31_HUMAN	histone cluster 1, H3c	19					blood coagulation (GO:0007596)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|regulation of gene silencing (GO:0060968)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(1)|skin(1)	8						AGCTCCGCGCAAGCAGCTTGC	0.577																																						ENST00000540144.1																			0				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(1)|skin(1)	8						c.(55-57)Aag>Cag		histone cluster 1, H3c							40	43	42					6																	26045693		2203	4300	6503	SO:0001583	missense	8352				blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding	g.chr6:26045693A>C	X57128	CCDS4576.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000196532	ENSG00000278272		"Histones / Replication-dependent"	4768	protein-coding gene	gene with protein product		602812	"H3 histone family, member C", "histone 1, H3c"	H3FC		8227173, 9119399, 12408966	Standard	NM_003531		Approved	H3/c, H3.1	uc003nfv.3	P68431	OTTHUMG00000014416	ENST00000540144.1:c.55A>C	6.37:g.26045693A>C	ENSP00000439493:p.Lys19Gln						p.K19Q	NM_003531.2	NP_003522.1	P68431	H31_HUMAN			1	55	+			19					A0PJT7|A5PLR1|P02295|P02296|P16106|Q6ISV8|Q6NWP8|Q6NWP9|Q6NXU4|Q71DJ3|Q93081	Missense_Mutation	SNP	ENST00000540144.1	37	c.55A>C	CCDS4576.1	.	.	.	.	.	.	.	.	.	.	A	10.88	1.476378	0.26511	.	.	ENSG00000196532	ENST00000540144	T	0.48522	0.81	4.67	4.67	0.58626	.	.	.	.	.	T	0.53351	0.1791	.	.	.	0.37803	D	0.927785	.	.	.	.	.	.	T	0.61642	-0.7021	6	0.87932	D	0	.	13.9855	0.64331	1.0:0.0:0.0:0.0	.	.	.	.	Q	19	ENSP00000439493:K19Q	ENSP00000439493:K19Q	K	+	1	0	HIST1H3C	26153672	1.000000	0.71417	0.998000	0.56505	0.003000	0.03518	9.175000	0.94831	2.045000	0.60652	0.482000	0.46254	AAG		0.577	HIST1H3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040078.1	NM_003531		7	60	0	0	0	1	0	7	60					C	26045693	A	C	26045693	3	2	259	1	0	0	0	0	1	0	0	0	7157	131	5	5	57	5	HIST1H3C	6	26045693	Missense_Mutation	SNP	A	TCGA-HI-7169-01A-11D-2114-08		26045693	145069374	27	12179											
POLR1C	9533	broad.mit.edu	37	chr6	43484884	43484884	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cggtggaggaaatgcggagcCgcgtggttctgggggagttt	6	9	20	6	4	1	0	0	0	1	0	1	4	1	4	1	7	2	2	1	7	1	2	rs201754745	byFrequency	TCGA-HI-7169-01A-11D-2114-08	TCGA-HI-7169-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1fc4226-40ce-43b7-b92e-aa7cecd0cf4d	263e1015-1061-4ad2-8f7e-ed430d2d9e80	g.chr6:43484884C>G	ENST00000372389.3	+	1	125	c.37C>G	c.(37-39)Cgc>Ggc	p.R13G	RP3-337H4.9_ENST00000607571.1_RNA|POLR1C_ENST00000304004.3_Missense_Mutation_p.R13G|YIPF3_ENST00000506469.1_5'Flank|POLR1C_ENST00000372344.2_Missense_Mutation_p.R13G|YIPF3_ENST00000372422.2_5'Flank	NM_203290.2	NP_976035.1	O15160	RPAC1_HUMAN	polymerase (RNA) I polypeptide C, 30kDa	13					gene expression (GO:0010467)|innate immune response (GO:0045087)|positive regulation of type I interferon production (GO:0032481)|termination of RNA polymerase I transcription (GO:0006363)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase III promoter (GO:0006383)|transcription initiation from RNA polymerase I promoter (GO:0006361)	cytosol (GO:0005829)|DNA-directed RNA polymerase I complex (GO:0005736)|DNA-directed RNA polymerase III complex (GO:0005666)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)			kidney(1)|large_intestine(2)|lung(1)|prostate(1)	5	all_cancers(18;3.79e-05)|Lung NSC(15;0.00217)|all_lung(25;0.00536)		Colorectal(64;0.00245)|all cancers(41;0.00511)|COAD - Colon adenocarcinoma(64;0.00536)|OV - Ovarian serous cystadenocarcinoma(102;0.0711)			AATGCGGAGCCGCGTGGTTCT	0.597																																						ENST00000372389.3																			0				kidney(1)|large_intestine(2)|lung(1)|prostate(1)	5						c.(37-39)Cgc>Ggc		polymerase (RNA) I polypeptide C, 30kDa							134	137	136					6																	43484884		2203	4300	6503	SO:0001583	missense	9533				termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	DNA-directed RNA polymerase I complex|nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|protein dimerization activity	g.chr6:43484884C>G	AF008442	CCDS4901.1	6p21.1	2013-01-21			ENSG00000171453	ENSG00000171453		"RNA polymerase subunits"	20194	protein-coding gene	gene with protein product		610060				11042152, 12446911	Standard	NM_203290		Approved	RPA40, RPA39, RPA5, RPAC1	uc003ovn.3	O15160	OTTHUMG00000014739	ENST00000372389.3:c.37C>G	6.37:g.43484884C>G	ENSP00000361465:p.Arg13Gly					POLR1C_ENST00000372344.2_Missense_Mutation_p.R13G|POLR1C_ENST00000304004.3_Missense_Mutation_p.R13G	p.R13G	NM_203290.2	NP_976035.1	O15160	RPAC1_HUMAN	Colorectal(64;0.00245)|all cancers(41;0.00511)|COAD - Colon adenocarcinoma(64;0.00536)|OV - Ovarian serous cystadenocarcinoma(102;0.0711)		1	125	+	all_cancers(18;3.79e-05)|Lung NSC(15;0.00217)|all_lung(25;0.00536)		13					O75395|Q5JTE3	Missense_Mutation	SNP	ENST00000372389.3	37	c.37C>G	CCDS4901.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.6|20.6	4.021685|4.021685	0.75275|0.75275	.|.	.|.	ENSG00000171453|ENSG00000171453	ENST00000423780|ENST00000372389;ENST00000372344;ENST00000304004	.|D;D;T	.|0.84070	.|-1.76;-1.8;-0.77	5.23|5.23	4.37|4.37	0.52481|0.52481	.|.	.|0.127237	.|0.51477	.|D	.|0.000099	D|D	0.86372|0.86372	0.5917|0.5917	M|M	0.83012|0.83012	2.62|2.62	0.58432|0.58432	D|D	0.999999|0.999999	.|D;D	.|0.67145	.|0.992;0.996	.|P;P	.|0.61658	.|0.892;0.815	D|D	0.85443|0.85443	0.1156|0.1156	5|10	.|0.27082	.|T	.|0.32	-11.4463|-11.4463	13.812|13.812	0.63268|0.63268	0.0:0.9256:0.0:0.0744|0.0:0.9256:0.0:0.0744	.|.	.|13;13	.|O15160-2;O15160	.|.;RPAC1_HUMAN	R|G	12|13	.|ENSP00000361465:R13G;ENSP00000361419:R13G;ENSP00000307212:R13G	.|ENSP00000307212:R13G	P|R	+|+	2|1	0|0	POLR1C|POLR1C	43592862|43592862	1.000000|1.000000	0.71417|0.71417	0.975000|0.975000	0.42487|0.42487	0.377000|0.377000	0.30045|0.30045	4.721000|4.721000	0.61951|0.61951	1.207000|1.207000	0.43291|0.43291	0.558000|0.558000	0.71614|0.71614	CCG|CGC		0.597	POLR1C-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040652.3	NM_004875		7	121	0	0	0	1	0	7	121					G	43484884	C	G	43484884	3	3	259	1	0	0	0	0	1	0	0	0	12211	652	23	5	39	5	POLR1C	6	43484884	Missense_Mutation	SNP	C	TCGA-HI-7169-01A-11D-2114-08	17439191	43484884	127630183	28	12180											
MTRF1L	54516	broad.mit.edu	37	chr6	153319711	153319711	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cttcagctgagttatttcttTttgacacaaagtgatttcat	10	18	6	7	0	3	3	2	3	1	0	3	3	3	3	0	0	1	2	0	0	2	6			TCGA-HI-7169-01A-11D-2114-08	TCGA-HI-7169-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1fc4226-40ce-43b7-b92e-aa7cecd0cf4d	263e1015-1061-4ad2-8f7e-ed430d2d9e80	g.chr6:153319711T>G	ENST00000367233.5	-	2	312	c.313A>C	c.(313-315)Aaa>Caa	p.K105Q	MTRF1L_ENST00000367230.1_Missense_Mutation_p.K105Q|MTRF1L_ENST00000367231.5_Missense_Mutation_p.K105Q|MTRF1L_ENST00000464135.1_5'UTR	NM_019041.5	NP_061914.3	Q9UGC7	RF1ML_HUMAN	mitochondrial translational release factor 1-like	105						mitochondrion (GO:0005739)	translation release factor activity, codon specific (GO:0016149)			endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|stomach(1)|upper_aerodigestive_tract(1)	10		Ovarian(120;0.125)		OV - Ovarian serous cystadenocarcinoma(155;4.24e-10)|BRCA - Breast invasive adenocarcinoma(81;0.0888)		GTTATTTCTTTTTGACACAAA	0.303																																						ENST00000367233.5																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|stomach(1)|upper_aerodigestive_tract(1)	10						c.(313-315)Aaa>Caa		mitochondrial translational release factor 1-like							74	71	72					6																	153319711		2203	4293	6496	SO:0001583	missense	54516					mitochondrion	translation release factor activity, codon specific	g.chr6:153319711T>G	BC011873	CCDS5243.1, CCDS47502.1, CCDS75540.1	6q25-q26	2008-02-05			ENSG00000112031	ENSG00000112031			21051	protein-coding gene	gene with protein product		613542					Standard	NM_019041		Approved		uc003qpi.4	Q9UGC7	OTTHUMG00000015857	ENST00000367233.5:c.313A>C	6.37:g.153319711T>G	ENSP00000356202:p.Lys105Gln					MTRF1L_ENST00000367230.1_Missense_Mutation_p.K105Q|MTRF1L_ENST00000367231.5_Missense_Mutation_p.K105Q|MTRF1L_ENST00000464135.1_5'UTR	p.K105Q	NM_019041.5	NP_061914.3	Q9UGC7	RF1ML_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;4.24e-10)|BRCA - Breast invasive adenocarcinoma(81;0.0888)	2	312	-		Ovarian(120;0.125)	105					B3KTA0|Q3KR06|Q5TF44|Q5TF50|Q96CC5|Q96EX4|Q96K40	Missense_Mutation	SNP	ENST00000367233.5	37	c.313A>C	CCDS5243.1	.	.	.	.	.	.	.	.	.	.	T	12.65	2.000897	0.35320	.	.	ENSG00000112031	ENST00000367233;ENST00000367231;ENST00000367230	T;T;T	0.45276	0.9;0.9;0.9	5.19	5.19	0.71726	Peptide chain release factor (2);	0.317296	0.33895	N	0.004449	T	0.14399	0.0348	L	0.39566	1.225	0.33787	D	0.624965	B;B;B;B	0.32071	0.324;0.355;0.302;0.175	B;B;B;B	0.33890	0.172;0.107;0.124;0.129	T	0.09796	-1.0658	10	0.13853	T	0.58	-10.922	6.1979	0.20559	0.0:0.2064:0.0:0.7936	.	105;105;105;105	B4DMX1;Q9UGC7-2;Q9UGC7-4;Q9UGC7	.;.;.;RF1ML_HUMAN	Q	105	ENSP00000356202:K105Q;ENSP00000356200:K105Q;ENSP00000356199:K105Q	ENSP00000356199:K105Q	K	-	1	0	MTRF1L	153361404	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	3.528000	0.53524	2.103000	0.63969	0.529000	0.55759	AAA		0.303	MTRF1L-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042764.1	NM_019041		3	40	0	0	0	1	0	3	40					G	153319711	T	G	153319711	3	3	259	1	0	0	0	0	1	0	0	0	9960	1850	64	5	853	5	MTRF1L	6	153319711	Missense_Mutation	SNP	T	TCGA-HI-7169-01A-11D-2114-08	109834827	153319711	17795356	29	12181											
CDHR3	222256	broad.mit.edu	37	chr7	105641939	105641939	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgtacacagtcctggaggaaCtgagtccaggaaccatcgtg	11	8	12	10	1	0	1	0	1	0	0	3	4	2	4	3	3	3	1	3	3	3	1			TCGA-HI-7169-01A-11D-2114-08	TCGA-HI-7169-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1fc4226-40ce-43b7-b92e-aa7cecd0cf4d	263e1015-1061-4ad2-8f7e-ed430d2d9e80	g.chr7:105641939C>T	ENST00000317716.9	+	7	825	c.745C>T	c.(745-747)Ctg>Ttg	p.L249L	CDHR3_ENST00000542731.1_Silent_p.L249L|CDHR3_ENST00000478080.1_Silent_p.L161L|CDHR3_ENST00000343407.5_5'UTR|CDHR3_ENST00000541203.1_Silent_p.N149N|CDHR3_ENST00000470188.1_Intron	NM_152750.4	NP_689963.2	Q6ZTQ4	CDHR3_HUMAN	cadherin-related family member 3	249	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|cervix(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(15)|ovary(1)	23						CCTGGAGGAACTGAGTCCAGG	0.517																																						ENST00000542731.1																			0				breast(1)|cervix(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(15)|ovary(1)	23						c.(745-747)Ctg>Ttg		cadherin-related family member 3							156	153	154					7																	105641939		2001	4162	6163	SO:0001819	synonymous_variant	222256				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr7:105641939C>T	AK126338	CCDS47684.1, CCDS75651.1	7q22.2	2011-07-01			ENSG00000128536	ENSG00000128536		"Cadherins / Cadherin-related"	26308	protein-coding gene	gene with protein product		615610					Standard	NM_152750		Approved	FLJ44366, FLJ23834, CDH28	uc003vdl.4	Q6ZTQ4	OTTHUMG00000157520	ENST00000317716.9:c.745C>T	7.37:g.105641939C>T						CDHR3_ENST00000470188.1_Intron|CDHR3_ENST00000541203.1_Silent_p.N149N|CDHR3_ENST00000317716.9_Silent_p.L249L|CDHR3_ENST00000343407.5_5'UTR|CDHR3_ENST00000478080.1_Silent_p.L161L	p.L249L			Q6ZTQ4	CDHR3_HUMAN			7	853	+			249			Cadherin 3.		Q8TCI7	Silent	SNP	ENST00000317716.9	37	c.745C>T	CCDS47684.1																																																																																				0.517	CDHR3-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000349025.2	NM_152750		5	97	0	0	0	1	0	5	97					T	105641939	C	T	105641939	2	4	259	1	0	0	0	0	0	0	0	1	3120	564	20	3		3	CDHR3	7	105641939	Silent	SNP	C	TCGA-HI-7169-01A-11D-2114-08		105641939	53496724	30	12182											
HNF4G	3174	broad.mit.edu	37	chr8	76463690	76463690	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gatggcagcaacatcccctcCattaacacactggcacaagc	13	6	7	15	0	0	0	0	0	0	0	2	1	2	0	3	2	4	3	3	2	3	1			TCGA-HI-7169-01A-11D-2114-08	TCGA-HI-7169-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1fc4226-40ce-43b7-b92e-aa7cecd0cf4d	263e1015-1061-4ad2-8f7e-ed430d2d9e80	g.chr8:76463690C>T	ENST00000354370.1	+	5	579	c.309C>T	c.(307-309)tcC>tcT	p.S103S	HNF4G_ENST00000396423.2_Silent_p.S140S			Q14541	HNF4G_HUMAN	hepatocyte nuclear factor 4, gamma	103					endocrine pancreas development (GO:0031018)|gene expression (GO:0010467)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)	ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	37	Breast(64;0.0448)		BRCA - Breast invasive adenocarcinoma(89;0.161)			ACATCCCCTCCATTAACACAC	0.448																																						ENST00000396423.2																			0				breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						c.(418-420)tcC>tcT		hepatocyte nuclear factor 4, gamma							141	109	119					8																	76463690		2203	4300	6503	SO:0001819	synonymous_variant	3174				endocrine pancreas development|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	g.chr8:76463690C>T		CCDS6220.2	8q21-q22	2013-01-16			ENSG00000164749	ENSG00000164749		"Nuclear hormone receptors"	5026	protein-coding gene	gene with protein product		605966				8622695, 12220494	Standard	NM_004133		Approved	NR2A2	uc003yar.3	Q14541	OTTHUMG00000149920	ENST00000354370.1:c.309C>T	8.37:g.76463690C>T						HNF4G_ENST00000354370.1_Silent_p.S103S	p.S140S	NM_004133.4	NP_004124.4	Q14541	HNF4G_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.161)		4	544	+	Breast(64;0.0448)		103					Q7Z2V9|Q9UH81|Q9UIS6	Silent	SNP	ENST00000354370.1	37	c.420C>T																																																																																					0.448	HNF4G-002	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000313914.2	NM_004133		7	64	0	0	0	1	0	7	64					T	76463690	C	T	76463690	2	4	259	1	0	0	0	0	0	0	0	1	7254	581	21	3		3	HNF4G	8	76463690	Silent	SNP	C	TCGA-HI-7169-01A-11D-2114-08		76463690	69900332	31	12183											
OTUD6B	51633	broad.mit.edu	37	chr8	92090653	92090653	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgaaattgaaaacttaacaGgagccagacatatggaaagt	18	8	9	6	0	0	3	0	2	0	1	0	5	0	5	1	2	3	0	1	2	6	3			TCGA-HI-7169-01A-11D-2114-08	TCGA-HI-7169-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1fc4226-40ce-43b7-b92e-aa7cecd0cf4d	263e1015-1061-4ad2-8f7e-ed430d2d9e80	g.chr8:92090653G>A	ENST00000285420.4	+	4	574	c.475G>A	c.(475-477)Gga>Aga	p.G159R	OTUD6B_ENST00000404789.3_Missense_Mutation_p.G28R	NM_016023.3	NP_057107.3	Q8N6M0	OTU6B_HUMAN	OTU domain containing 6B	129	OTU. {ECO:0000255|PROSITE- ProRule:PRU00139}.						cysteine-type peptidase activity (GO:0008234)			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)	11			BRCA - Breast invasive adenocarcinoma(11;0.0187)			AAACTTAACAGGAGCCAGACA	0.378																																						ENST00000285420.4																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)	11						c.(475-477)Gga>Aga		OTU domain containing 6B							49	50	49					8																	92090653		2202	4296	6498	SO:0001583	missense	51633							g.chr8:92090653G>A		CCDS6253.2, CCDS69513.1	8q21.3	2013-01-21			ENSG00000155100	ENSG00000155100		"OTU domain containing"	24281	protein-coding gene	gene with protein product		612021					Standard	NM_016023		Approved	CGI-77, DUBA5	uc003yeu.4	Q8N6M0	OTTHUMG00000150758	ENST00000285420.4:c.475G>A	8.37:g.92090653G>A	ENSP00000285420:p.Gly159Arg					OTUD6B_ENST00000404789.3_Missense_Mutation_p.G28R	p.G159R	NM_016023.3	NP_057107.3	Q8N6M0	OTU6B_HUMAN	BRCA - Breast invasive adenocarcinoma(11;0.0187)		4	574	+			129			OTU.		A8K6I1|B4DEY0|Q9NTA4|Q9Y387	Missense_Mutation	SNP	ENST00000285420.4	37	c.475G>A	CCDS6253.2	.	.	.	.	.	.	.	.	.	.	G	26.6	4.750573	0.89753	.	.	ENSG00000155100	ENST00000285420;ENST00000404789	T;T	0.40476	1.03;1.03	6.06	5.19	0.71726	.	0.000000	0.85682	D	0.000000	T	0.68128	0.2967	M	0.86343	2.81	0.80722	D	1	D;D	0.71674	0.998;0.97	D;P	0.70487	0.969;0.899	T	0.73081	-0.4095	10	0.46703	T	0.11	-26.1244	15.3889	0.74726	0.0665:0.0:0.9335:0.0	.	28;129	B4DEY0;Q8N6M0	.;OTU6B_HUMAN	R	159;28	ENSP00000285420:G159R;ENSP00000384190:G28R	ENSP00000285420:G159R	G	+	1	0	OTUD6B	92159829	1.000000	0.71417	0.980000	0.43619	0.955000	0.61496	9.230000	0.95299	1.575000	0.49775	0.650000	0.86243	GGA		0.378	OTUD6B-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000319968.1	NM_016023		2	8	0	0	0	1	0	2	8					A	92090653	G	A	92090653	3	1	259	1	0	0	0	0	1	0	0	0	11317	1001	35	3	489	3	OTUD6B	8	92090653	Missense_Mutation	SNP	G	TCGA-HI-7169-01A-11D-2114-08	15626963	92090653	54273369	32	12184											
VPS13A	23230	broad.mit.edu	37	chr9	80022520	80022520	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcaagaccccagaggatgcCagggtaaatataataaatct	16	9	8	8	0	2	2	1	0	1	2	2	3	2	3	3	2	1	1	3	2	7	5			TCGA-HI-7169-01A-11D-2114-08	TCGA-HI-7169-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1fc4226-40ce-43b7-b92e-aa7cecd0cf4d	263e1015-1061-4ad2-8f7e-ed430d2d9e80	g.chr9:80022520C>A	ENST00000360280.3	+	71	9731	c.9471C>A	c.(9469-9471)gcC>gcA	p.A3157A	VPS13A_ENST00000484581.2_Silent_p.A93A|VPS13A_ENST00000376646.3_Silent_p.A93A|VPS13A_ENST00000376636.3_Silent_p.A3118A	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13 homolog A (S. cerevisiae)	3157					cell death (GO:0008219)|Golgi to endosome transport (GO:0006895)|locomotory behavior (GO:0007626)|nervous system development (GO:0007399)|protein localization (GO:0008104)|protein transport (GO:0015031)|social behavior (GO:0035176)	dense core granule (GO:0031045)|intracellular (GO:0005622)				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						CAGAGGATGCCAGGGtaaata	0.318																																						ENST00000360280.3																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						c.(9469-9471)gcC>gcA		vacuolar protein sorting 13 homolog A (S. cerevisiae)							30	33	32					9																	80022520		2187	4286	6473	SO:0001819	synonymous_variant	23230				Golgi to endosome transport|protein transport	intracellular	protein binding	g.chr9:80022520C>A	AB023203	CCDS6655.1, CCDS6656.1, CCDS47983.1, CCDS55321.1	9q21	2014-01-30	2006-04-04	2004-02-11	ENSG00000197969	ENSG00000197969			1908	protein-coding gene	gene with protein product	"chorein"	605978	"chorea acanthocytosis", "vacuolar protein sorting 13A (yeast)"	CHAC		9382101, 11381253	Standard	NM_001018038		Approved	KIAA0986	uc004akr.3	Q96RL7	OTTHUMG00000020055	ENST00000360280.3:c.9471C>A	9.37:g.80022520C>A						VPS13A_ENST00000376636.3_Silent_p.A3118A|VPS13A_ENST00000484581.2_Silent_p.A93A|VPS13A_ENST00000376646.3_Silent_p.A93A	p.A3157A	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN			71	9731	+			3157					Q5JSX9|Q5JSY0|Q5VYR5|Q702P4|Q709D0|Q86YF8|Q96S61|Q9H995|Q9Y2J1	Silent	SNP	ENST00000360280.3	37	c.9471C>A	CCDS6655.1	.	.	.	.	.	.	.	.	.	.	C	9.365	1.068967	0.20147	.	.	ENSG00000197969	ENST00000467124	.	.	.	5.66	-2.97	0.05530	.	.	.	.	.	T	0.36386	0.0965	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.36672	-0.9738	4	.	.	.	.	0.3492	0.00346	0.2157:0.2489:0.2209:0.3146	.	.	.	.	Q	31	.	.	P	+	2	0	VPS13A	79212340	0.980000	0.34600	0.997000	0.53966	0.971000	0.66376	0.089000	0.15002	-0.134000	0.11516	-1.224000	0.01588	CCA		0.318	VPS13A-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052753.2	NM_015186		3	31	1	0	0.014758	1	0.0158932	3	31					A	80022520	C	A	80022520	2	1	259	1	0	0	0	0	0	0	0	1	17186	581	21	5		5	VPS13A	9	80022520	Silent	SNP	C	TCGA-HI-7169-01A-11D-2114-08		80022520	61190911	33	12185											
AKR1C1	1645	broad.mit.edu	37	chr10	5011016	5011016	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acaattcctttttcccaggcCgtggagaagtgtaaagatgc	11	11	10	9	1	0	2	0	0	0	2	2	3	2	2	3	2	1	1	3	2	4	4			TCGA-HI-7169-01A-11D-2114-08	TCGA-HI-7169-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1fc4226-40ce-43b7-b92e-aa7cecd0cf4d	263e1015-1061-4ad2-8f7e-ed430d2d9e80	g.chr10:5011016C>T	ENST00000380872.4	+	5	642	c.450C>T	c.(448-450)gcC>gcT	p.A150A	AKR1C1_ENST00000434459.2_Silent_p.A150A|AKR1C1_ENST00000380859.1_Silent_p.A152A|AKR1C1_ENST00000477661.1_3'UTR	NM_001353.5	NP_001344.2	Q04828	AK1C1_HUMAN	aldo-keto reductase family 1, member C1	150					bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|cellular response to jasmonic acid stimulus (GO:0071395)|cholesterol homeostasis (GO:0042632)|daunorubicin metabolic process (GO:0044597)|digestion (GO:0007586)|doxorubicin metabolic process (GO:0044598)|epithelial cell differentiation (GO:0030855)|intestinal cholesterol absorption (GO:0030299)|oxidation-reduction process (GO:0055114)|phototransduction, visible light (GO:0007603)|progesterone metabolic process (GO:0042448)|protein homooligomerization (GO:0051260)|response to organophosphorus (GO:0046683)|retinal metabolic process (GO:0042574)|retinoid metabolic process (GO:0001523)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	17-alpha,20-alpha-dihydroxypregn-4-en-3-one dehydrogenase activity (GO:0047006)|alditol:NADP+ 1-oxidoreductase activity (GO:0004032)|aldo-keto reductase (NADP) activity (GO:0004033)|androsterone dehydrogenase (B-specific) activity (GO:0047042)|bile acid binding (GO:0032052)|carboxylic acid binding (GO:0031406)|indanol dehydrogenase activity (GO:0047718)|ketosteroid monooxygenase activity (GO:0047086)|oxidoreductase activity, acting on NAD(P)H, quinone or similar compound as acceptor (GO:0016655)|phenanthrene 9,10-monooxygenase activity (GO:0018636)|trans-1,2-dihydrobenzene-1,2-diol dehydrogenase activity (GO:0047115)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(2)|ovary(3)|prostate(1)	13					Acetylsalicylic acid(DB00945)|Salicylic acid(DB00936)	TTTCCCAGGCCGTGGAGAAGT	0.463																																					Colon(130;2054 2316 13360 15380)	ENST00000380872.4																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(2)|ovary(3)|prostate(1)	13						c.(448-450)gcC>gcT		aldo-keto reductase family 1, member C1							113	101	105					10																	5011016		2203	4300	6503	SO:0001819	synonymous_variant	1645							g.chr10:5011016C>T	D26124	CCDS7061.1	10p15-p14	2012-12-04	2012-12-04		ENSG00000187134	ENSG00000187134	1.3.1.20, 1.1.1.149, 1.1.1.112	"Aldo-keto reductases"	384	protein-coding gene	gene with protein product	"dihydrodiol dehydrogenase 1; 20-alpha (3-alpha)-hydroxysteroid dehydrogenase"	600449	"aldo-keto reductase family 1, member C1 (dihydrodiol dehydrogenase 1; 20-alpha (3-alpha)-hydroxysteroid dehydrogenase)"	DDH1		8011662	Standard	NM_001353		Approved	DDH, MBAB, DD1, HAKRC		Q04828	OTTHUMG00000017580	ENST00000380872.4:c.450C>T	10.37:g.5011016C>T						AKR1C1_ENST00000380859.1_Silent_p.A152A|AKR1C1_ENST00000477661.1_3'UTR|AKR1C1_ENST00000434459.2_Silent_p.A150A	p.A150A	NM_001353.5	NP_001344.2					5	642	+								P52896|Q5SR15|Q7M4N2|Q9UCX2	Silent	SNP	ENST00000380872.4	37	c.450C>T	CCDS7061.1	.	.	.	.	.	.	.	.	.	.	C	1.980	-0.434375	0.04669	.	.	ENSG00000187134	ENST00000442997	.	.	.	2.1	2.1	0.27182	.	.	.	.	.	T	0.53802	0.1819	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.49753	-0.8906	4	.	.	.	.	6.6808	0.23119	0.0:0.7001:0.2999:0.0	.	.	.	.	L	117	.	.	P	+	2	0	AKR1C1	5001016	0.014000	0.17966	0.974000	0.42286	0.061000	0.15899	0.019000	0.13444	1.475000	0.48197	0.305000	0.20034	CCG		0.463	AKR1C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046523.2	NM_001353		3	73	0	0	0	1	0	3	73					T	5011016	C	T	5011016	2	4	259	1	0	0	0	0	0	0	0	1	469	639	23	2		2	AKR1C1	10	5011016	Silent	SNP	C	TCGA-HI-7169-01A-11D-2114-08		5011016	130523731	34	12186											
TSPAN15	23555	broad.mit.edu	37	chr10	71264232	71264232	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atgtgtggctacaaaactatCgacaaggaggtaatgtcttt	13	12	10	6	1	1	0	0	0	1	0	2	2	1	1	0	3	2	2	0	3	6	4			TCGA-HI-7169-01A-11D-2114-08	TCGA-HI-7169-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1fc4226-40ce-43b7-b92e-aa7cecd0cf4d	263e1015-1061-4ad2-8f7e-ed430d2d9e80	g.chr10:71264232C>T	ENST00000373290.2	+	6	731	c.609C>T	c.(607-609)atC>atT	p.I203I	TSPAN15_ENST00000459981.1_3'UTR	NM_012339.3	NP_036471.1	O95858	TSN15_HUMAN	tetraspanin 15	203					establishment of protein localization to plasma membrane (GO:0090002)|protein maturation (GO:0051604)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tetraspanin-enriched microdomain (GO:0097197)	enzyme binding (GO:0019899)			breast(1)|endometrium(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(1)	9						ACAAAACTATCGACAAGGAGG	0.423																																						ENST00000373290.2																			0				breast(1)|endometrium(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(1)	9						c.(607-609)atC>atT		tetraspanin 15							181	169	173					10																	71264232		2203	4300	6503	SO:0001819	synonymous_variant	23555					integral to plasma membrane|membrane fraction		g.chr10:71264232C>T	AY358934	CCDS7294.1	10q22.1	2013-02-14	2005-03-21	2005-03-21	ENSG00000099282	ENSG00000099282		"Tetraspanins"	23298	protein-coding gene	gene with protein product		613140	"transmembrane 4 superfamily member 15"	TM4SF15		11739647, 10719184	Standard	NM_012339		Approved	NET-7	uc001jpo.1	O95858	OTTHUMG00000018381	ENST00000373290.2:c.609C>T	10.37:g.71264232C>T						TSPAN15_ENST00000459981.1_3'UTR	p.I203I	NM_012339.3	NP_036471.1	O95858	TSN15_HUMAN			6	731	+			203					Q6UW79	Silent	SNP	ENST00000373290.2	37	c.609C>T	CCDS7294.1																																																																																				0.423	TSPAN15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048444.1	NM_012339		22	91	0	0	0	1	0	22	91					T	71264232	C	T	71264232	2	4	259	1	0	0	0	0	0	0	0	1	16636	874	31	2		2	TSPAN15	10	71264232	Silent	SNP	C	TCGA-HI-7169-01A-11D-2114-08	66253216	71264232	64270515	35	12187											
OR5A2	219981	broad.mit.edu	37	chr11	59189732	59189732	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aggcctttgtcctacctgtaGctgagctgatcttcacaaca	9	12	8	12	0	2	2	1	2	1	0	3	2	3	2	3	1	4	3	3	1	3	4			TCGA-HI-7169-01A-11D-2114-08	TCGA-HI-7169-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1fc4226-40ce-43b7-b92e-aa7cecd0cf4d	263e1015-1061-4ad2-8f7e-ed430d2d9e80	g.chr11:59189732G>T	ENST00000302040.4	-	1	717	c.695C>A	c.(694-696)gCt>gAt	p.A232D		NM_001001954.1	NP_001001954.1	Q8NGI9	OR5A2_HUMAN	olfactory receptor, family 5, subfamily A, member 2	232						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			large_intestine(3)|liver(1)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	21						CCTACCTGTAGCTGAGCTGAT	0.483																																						ENST00000302040.4																			0				large_intestine(3)|liver(1)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	21						c.(694-696)gCt>gAt		olfactory receptor, family 5, subfamily A, member 2							107	97	100					11																	59189732		2201	4295	6496	SO:0001583	missense	219981				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:59189732G>T	AB065805	CCDS31560.1	11q12.1	2012-08-09			ENSG00000172324	ENSG00000172324		"GPCR / Class A : Olfactory receptors"	15249	protein-coding gene	gene with protein product							Standard	NM_001001954		Approved		uc010rkt.2	Q8NGI9	OTTHUMG00000167419	ENST00000302040.4:c.695C>A	11.37:g.59189732G>T	ENSP00000303834:p.Ala232Asp						p.A232D	NM_001001954.1	NP_001001954.1	Q8NGI9	OR5A2_HUMAN			1	717	-			232					B9EH21|Q6IFF4|Q96RB0	Missense_Mutation	SNP	ENST00000302040.4	37	c.695C>A	CCDS31560.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.018654	0.75275	.	.	ENSG00000172324	ENST00000302040	T	0.00202	8.56	5.56	1.62	0.23740	GPCR, rhodopsin-like superfamily (1);	0.241548	0.21002	U	0.081858	T	0.00412	0.0013	M	0.86343	2.81	0.09310	N	1	P	0.49447	0.924	P	0.55455	0.776	T	0.38243	-0.9670	10	0.87932	D	0	.	6.4532	0.21916	0.225:0.1318:0.6432:0.0	.	232	Q8NGI9	OR5A2_HUMAN	D	232	ENSP00000303834:A232D	ENSP00000303834:A232D	A	-	2	0	OR5A2	58946308	0.000000	0.05858	0.003000	0.11579	0.703000	0.40648	-0.197000	0.09518	0.122000	0.18314	-0.142000	0.14014	GCT		0.483	OR5A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394552.1	NM_001001954		5	42	1	0	0.0215528	1	0.022859	5	42					T	59189732	G	T	59189732	3	4	259	1	0	0	0	0	1	0	0	0	11140	971	34	5	281	5	OR5A2	11	59189732	Missense_Mutation	SNP	G	TCGA-HI-7169-01A-11D-2114-08		59189732	75816784	36	12188											
LRP5	4041	broad.mit.edu	37	chr11	68216515	68216515	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atctcttcccgccccctccgTccccctgcacggactcatcc	4	9	5	23	3	2	0	1	0	1	0	7	1	6	1	7	1	1	1	7	1	0	1			TCGA-HI-7169-01A-11D-2114-08	TCGA-HI-7169-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1fc4226-40ce-43b7-b92e-aa7cecd0cf4d	263e1015-1061-4ad2-8f7e-ed430d2d9e80	g.chr11:68216515T>C	ENST00000294304.7	+	23	4931	c.4825T>C	c.(4825-4827)Tcc>Ccc	p.S1609P	LRP5_ENST00000529481.1_3'UTR	NM_002335.2	NP_002326.2	O75197	LRP5_HUMAN	low density lipoprotein receptor-related protein 5	1609	Pro-rich.				adipose tissue development (GO:0060612)|anatomical structure regression (GO:0060033)|anterior/posterior pattern specification (GO:0009952)|apoptotic process involved in patterning of blood vessels (GO:1902262)|bone marrow development (GO:0048539)|bone morphogenesis (GO:0060349)|bone remodeling (GO:0046849)|branching involved in mammary gland duct morphogenesis (GO:0060444)|canonical Wnt signaling pathway (GO:0060070)|cell migration involved in gastrulation (GO:0042074)|cell-cell signaling involved in mammary gland development (GO:0060764)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic digit morphogenesis (GO:0042733)|embryonic limb morphogenesis (GO:0030326)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|endocytosis (GO:0006897)|extracellular matrix-cell signaling (GO:0035426)|gastrulation with mouth forming second (GO:0001702)|glucose catabolic process (GO:0006007)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|osteoblast development (GO:0002076)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of mitosis (GO:0045840)|positive regulation of osteoblast proliferation (GO:0033690)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of apoptotic process (GO:0042981)|regulation of blood pressure (GO:0008217)|regulation of bone remodeling (GO:0046850)|regulation of canonical Wnt signaling pathway (GO:0060828)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|response to peptide hormone (GO:0043434)|retina morphogenesis in camera-type eye (GO:0060042)|retinal blood vessel morphogenesis (GO:0061304)|somatic stem cell maintenance (GO:0035019)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway involved in dorsal/ventral axis specification (GO:0044332)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	coreceptor activity (GO:0015026)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						GCCCCCTCCGTCCCCCTGCAC	0.582																																						ENST00000294304.7																			0				autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						c.(4825-4827)Tcc>Ccc		low density lipoprotein receptor-related protein 5							33	36	35					11																	68216515		2200	4292	6492	SO:0001583	missense	4041				adipose tissue development|bone marrow development|bone morphogenesis|canonical Wnt receptor signaling pathway|cholesterol homeostasis|endocytosis|glucose catabolic process|negative regulation of osteoblast differentiation|negative regulation of protein serine/threonine kinase activity|positive regulation of fat cell differentiation|positive regulation of mesenchymal cell proliferation|positive regulation of mitosis|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of canonical Wnt receptor signaling pathway|retina morphogenesis in camera-type eye|retinal blood vessel morphogenesis|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	endoplasmic reticulum|integral to membrane|plasma membrane|receptor complex	protein binding|receptor activity	g.chr11:68216515T>C	AF064548	CCDS8181.1	11q13.4	2014-01-28	2003-03-12		ENSG00000162337	ENSG00000162337		"Low density lipoprotein receptors"	6697	protein-coding gene	gene with protein product		603506	"osteoporosis pseudoglioma syndrome", "exudative vitreoretinopathy 1"	LRP7, OPPG, EVR1		9714764, 10049586	Standard	XM_005273994		Approved	LR3, BMND1, HBM, OPS, OPTA1, VBCH2, EVR4	uc001ont.3	O75197	OTTHUMG00000167570	ENST00000294304.7:c.4825T>C	11.37:g.68216515T>C	ENSP00000294304:p.Ser1609Pro					LRP5_ENST00000529481.1_3'UTR	p.S1609P	NM_002335.2	NP_002326.2	O75197	LRP5_HUMAN			23	4931	+			1609			Pro-rich.		Q96TD6|Q9UES7|Q9UP66	Missense_Mutation	SNP	ENST00000294304.7	37	c.4825T>C	CCDS8181.1	.	.	.	.	.	.	.	.	.	.	T	16.07	3.019969	0.54576	.	.	ENSG00000162337	ENST00000294304	D	0.96830	-4.14	4.53	4.53	0.55603	.	0.000000	0.46145	U	0.000317	D	0.97791	0.9275	M	0.78637	2.42	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.87578	0.998;0.998	D	0.98611	1.0663	10	0.87932	D	0	.	14.0922	0.64998	0.0:0.0:0.0:1.0	.	1609;1609	Q9UES7;O75197	.;LRP5_HUMAN	P	1609	ENSP00000294304:S1609P	ENSP00000294304:S1609P	S	+	1	0	LRP5	67973091	1.000000	0.71417	0.932000	0.37286	0.021000	0.10359	7.395000	0.79876	1.919000	0.55581	0.454000	0.30748	TCC		0.582	LRP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395088.1	NM_002335		3	119	0	0	0	1	0	3	119					C	68216515	T	C	68216515	3	2	259	1	0	0	0	0	1	0	0	0	8960	1667	58	4	4915	4	LRP5	11	68216515	Missense_Mutation	SNP	T	TCGA-HI-7169-01A-11D-2114-08	9026783	68216515	66790001	37	12189											
FAT3	120114	broad.mit.edu	37	chr11	92531778	92531778	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aactgactgcagagagtcccGttgaagtcaacattgaggtg	12	9	12	8	1	1	4	1	3	0	1	2	5	2	4	1	1	3	2	1	1	3	2	rs201824046		TCGA-HI-7169-01A-11D-2114-08	TCGA-HI-7169-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1fc4226-40ce-43b7-b92e-aa7cecd0cf4d	263e1015-1061-4ad2-8f7e-ed430d2d9e80	g.chr11:92531778G>A	ENST00000298047.6	+	9	5616	c.5599G>A	c.(5599-5601)Gtt>Att	p.V1867I	FAT3_ENST00000409404.2_Missense_Mutation_p.V1867I|FAT3_ENST00000525166.1_Missense_Mutation_p.V1717I			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	1867	Cadherin 16. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				AGAGAGTCCCGTTGAAGTCAA	0.453										TCGA Ovarian(4;0.039)																												ENST00000298047.6																			0				NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85						c.(5599-5601)Gtt>Att		FAT atypical cadherin 3		G	ILE/VAL	0,3996		0,0,1998	112	102	105		5599	5.8	1	11		105	2,8340		0,2,4169	yes	missense	FAT3	NM_001008781.2	29	0,2,6167	AA,AG,GG		0.024,0.0,0.0162	benign	1867/4558	92531778	2,12336	1998	4171	6169	SO:0001583	missense	120114				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr11:92531778G>A	AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"Cadherins / Cadherin-related"	23112	protein-coding gene	gene with protein product	"cadherin-related family member 10"	612483	"FAT tumor suppressor homolog 3 (Drosophila)"			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.5599G>A	11.37:g.92531778G>A	ENSP00000298047:p.Val1867Ile	TCGA Ovarian(4;0.039)				FAT3_ENST00000409404.2_Missense_Mutation_p.V1867I|FAT3_ENST00000525166.1_Missense_Mutation_p.V1717I	p.V1867I			Q8TDW7	FAT3_HUMAN			9	5616	+		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)	1867			Cadherin 16.		B5MDB0|Q96AU6	Missense_Mutation	SNP	ENST00000298047.6	37	c.5599G>A		.	.	.	.	.	.	.	.	.	.	G	14.01	2.408234	0.42715	0.0	2.4E-4	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000525166	T;T;T	0.59906	0.23;0.23;0.23	5.82	5.82	0.92795	.	.	.	.	.	T	0.45316	0.1336	L	0.28649	0.875	0.80722	D	1	P	0.40302	0.712	B	0.30401	0.115	T	0.40869	-0.9540	9	0.33141	T	0.24	.	20.0979	0.97857	0.0:0.0:1.0:0.0	.	1867	Q8TDW7-3	.	I	1867;1867;1717	ENSP00000298047:V1867I;ENSP00000387040:V1867I;ENSP00000432586:V1717I	ENSP00000298047:V1867I	V	+	1	0	FAT3	92171426	1.000000	0.71417	0.961000	0.40146	0.968000	0.65278	4.446000	0.60014	2.761000	0.94854	0.591000	0.81541	GTT		0.453	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781		6	30	0	0	0	1	0	6	30					A	92531778	G	A	92531778	3	1	259	1	0	0	0	0	1	0	0	0	5691	1145	40	1	5633	1	FAT3	11	92531778	Missense_Mutation	SNP	G	TCGA-HI-7169-01A-11D-2114-08	24315263	92531778	42474738	38	12190											
ESAM	90952	broad.mit.edu	37	chr11	124623669	124623669	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagggtgggccccatctgtcGtgggcagtcttggtgagggc	4	9	19	9	1	2	1	0	1	2	0	3	2	2	1	2	5	0	1	2	5	0	1			TCGA-HI-7169-01A-11D-2114-08	TCGA-HI-7169-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1fc4226-40ce-43b7-b92e-aa7cecd0cf4d	263e1015-1061-4ad2-8f7e-ed430d2d9e80	g.chr11:124623669G>A	ENST00000278927.5	-	7	1175	c.1046C>T	c.(1045-1047)aCg>aTg	p.T349M	ESAM_ENST00000442070.2_Intron|VSIG2_ENST00000326621.5_5'Flank|VSIG2_ENST00000403470.1_5'Flank	NM_138961.2	NP_620411.2	Q96AP7	ESAM_HUMAN	endothelial cell adhesion molecule	349					blood coagulation (GO:0007596)|homophilic cell adhesion (GO:0007156)|leukocyte migration (GO:0050900)|single organismal cell-cell adhesion (GO:0016337)	adherens junction (GO:0005912)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)				endometrium(2)|kidney(1)|large_intestine(6)|lung(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	16	all_hematologic(175;0.215)	Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.022)		CCCATCTGTCGTGGGCAGTCT	0.667																																						ENST00000278927.5																			0				endometrium(2)|kidney(1)|large_intestine(6)|lung(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	16						c.(1045-1047)aCg>aTg		endothelial cell adhesion molecule							61	65	64					11																	124623669		2201	4299	6500	SO:0001583	missense	90952				blood coagulation|leukocyte migration	adherens junction|integral to membrane|tight junction		g.chr11:124623669G>A	AK075396	CCDS8453.1	11q24.2	2013-01-29			ENSG00000149564	ENSG00000149564		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	17474	protein-coding gene	gene with protein product		614281				11279107, 11906820	Standard	NM_138961		Approved	W117m	uc001qav.4	Q96AP7	OTTHUMG00000151986	ENST00000278927.5:c.1046C>T	11.37:g.124623669G>A	ENSP00000278927:p.Thr349Met					ESAM_ENST00000442070.2_Intron	p.T349M	NM_138961.2	NP_620411.2	Q96AP7	ESAM_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.022)	7	1175	-	all_hematologic(175;0.215)	Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	349					B4DVN8|Q96T50	Missense_Mutation	SNP	ENST00000278927.5	37	c.1046C>T	CCDS8453.1	.	.	.	.	.	.	.	.	.	.	G	5.139	0.211283	0.09757	.	.	ENSG00000149564	ENST00000278927	T	0.31247	1.5	5.17	3.29	0.37713	.	0.824366	0.11527	N	0.555074	T	0.19685	0.0473	N	0.19112	0.55	0.80722	D	1	B	0.21309	0.054	B	0.09377	0.004	T	0.03473	-1.1033	10	0.48119	T	0.1	.	8.2581	0.31769	0.0:0.7471:0.1657:0.0872	.	349	Q96AP7	ESAM_HUMAN	M	349	ENSP00000278927:T349M	ENSP00000278927:T349M	T	-	2	0	ESAM	124128879	0.656000	0.27385	0.026000	0.17262	0.028000	0.11728	0.794000	0.26958	0.672000	0.31204	-0.165000	0.13383	ACG		0.667	ESAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324686.1	NM_138961		16	74	0	0	0	1	0	16	74					A	124623669	G	A	124623669	3	1	259	1	0	0	0	0	1	0	0	0	5247	1145	40	1	130	1	ESAM	11	124623669	Missense_Mutation	SNP	G	TCGA-HI-7169-01A-11D-2114-08	32091891	124623669	10382847	39	12191											
APOBEC1	339	broad.mit.edu	37	chr12	7802204	7802204	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaaggatgtgtggcggaatcGtttggtaatggcagttttga	10	13	15	3	2	0	1	0	1	0	0	1	3	0	3	0	5	0	4	0	5	3	4			TCGA-HI-7169-01A-11D-2114-08	TCGA-HI-7169-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1fc4226-40ce-43b7-b92e-aa7cecd0cf4d	263e1015-1061-4ad2-8f7e-ed430d2d9e80	g.chr12:7802204G>A	ENST00000229304.4	-	5	670	c.650C>T	c.(649-651)aCg>aTg	p.T217M		NM_001644.3	NP_001635.2	P41238	ABEC1_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide 1	217					cellular response to insulin stimulus (GO:0032869)|cytidine deamination (GO:0009972)|cytidine to uridine editing (GO:0016554)|defense response to virus (GO:0051607)|DNA demethylation (GO:0080111)|gene expression (GO:0010467)|lipid metabolic process (GO:0006629)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein transport (GO:0042953)|mRNA modification (GO:0016556)|mRNA processing (GO:0006397)|mRNA stabilization (GO:0048255)|negative regulation of methylation-dependent chromatin silencing (GO:0090310)|regulation of cell proliferation (GO:0042127)|response to calcium ion (GO:0051592)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to gamma radiation (GO:0010332)|response to osmotic stress (GO:0006970)|response to zinc ion (GO:0010043)|RNA processing (GO:0006396)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	AU-rich element binding (GO:0017091)|cytidine deaminase activity (GO:0004126)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			kidney(2)|large_intestine(2)|lung(10)|prostate(1)|skin(1)|stomach(1)	17						TGGCGGAATCGTTTGGTAATG	0.398																																					Pancreas(135;929 1826 4531 10527 41012)	ENST00000229304.4																			0				kidney(2)|large_intestine(2)|lung(10)|prostate(1)|skin(1)|stomach(1)	17						c.(649-651)aCg>aTg		apolipoprotein B mRNA editing enzyme, catalytic polypeptide 1							184	165	171					12																	7802204		2203	4300	6503	SO:0001583	missense	339				cytidine to uridine editing|DNA demethylation|lipid metabolic process|mRNA modification|mRNA processing|negative regulation of methylation-dependent chromatin silencing	nucleoplasm	cytidine deaminase activity|RNA binding|zinc ion binding	g.chr12:7802204G>A	U72891	CCDS8579.1	12p13.1	2007-02-01			ENSG00000111701	ENSG00000111701		"Apolipoprotein B mRNA editing enzymes"	604	protein-coding gene	gene with protein product		600130					Standard	XM_005253355		Approved	BEDP, CDAR1, APOBEC-1, HEPR	uc001qtb.3	P41238	OTTHUMG00000141288	ENST00000229304.4:c.650C>T	12.37:g.7802204G>A	ENSP00000229304:p.Thr217Met						p.T217M	NM_001644.3	NP_001635.2	P41238	ABEC1_HUMAN			5	670	-			217					Q9UE64|Q9UM71	Missense_Mutation	SNP	ENST00000229304.4	37	c.650C>T	CCDS8579.1	.	.	.	.	.	.	.	.	.	.	G	1.205	-0.631446	0.03584	.	.	ENSG00000111701	ENST00000229304	T	0.61859	0.07	4.32	-8.64	0.00874	.	1.067710	0.07354	N	0.882827	T	0.29556	0.0737	N	0.10733	0.035	0.09310	N	1	B	0.10296	0.003	B	0.04013	0.001	T	0.28235	-1.0050	10	0.35671	T	0.21	-0.3517	8.008	0.30336	0.2624:0.3886:0.349:0.0	.	217	P41238	ABEC1_HUMAN	M	217	ENSP00000229304:T217M	ENSP00000229304:T217M	T	-	2	0	APOBEC1	7693471	0.000000	0.05858	0.003000	0.11579	0.062000	0.15995	-3.023000	0.00641	-2.563000	0.00472	-1.047000	0.02352	ACG		0.398	APOBEC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280523.1	NM_001644		4	89	0	0	0	1	0	4	89					A	7802204	G	A	7802204	3	1	259	1	0	0	0	0	1	0	0	0	787	1145	40	1	64	1	APOBEC1	12	7802204	Missense_Mutation	SNP	G	TCGA-HI-7169-01A-11D-2114-08		7802204	126049691	40	12192											
CDK2	1017	broad.mit.edu	37	chr12	56365358	56365358	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcggccaaggcagccctggcTcaccctttcttccaggatgt	6	10	10	15	1	2	0	1	0	1	0	4	1	3	1	4	4	1	2	4	4	1	2			TCGA-HI-7169-01A-11D-2114-08	TCGA-HI-7169-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1fc4226-40ce-43b7-b92e-aa7cecd0cf4d	263e1015-1061-4ad2-8f7e-ed430d2d9e80	g.chr12:56365358T>C	ENST00000266970.4	+	7	1086	c.846T>C	c.(844-846)gcT>gcC	p.A282A	CDK2_ENST00000553376.1_Silent_p.A330A|RAB5B_ENST00000448789.2_5'Flank|RAB5B_ENST00000553116.1_5'Flank|CDK2_ENST00000440311.2_Silent_p.A222A|RAB5B_ENST00000360299.5_5'Flank|CDK2_ENST00000354056.4_Silent_p.A248A|CDK2_ENST00000556656.1_3'UTR	NM_001798.3	NP_001789.2	P24941	CDK2_HUMAN	cyclin-dependent kinase 2	282	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|blood coagulation (GO:0007596)|cellular response to nitric oxide (GO:0071732)|centrosome duplication (GO:0051298)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|histone phosphorylation (GO:0016572)|meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic G1 DNA damage checkpoint (GO:0031571)|mitotic nuclear division (GO:0007067)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA-dependent DNA replication initiation (GO:0032298)|positive regulation of transcription, DNA-templated (GO:0045893)|potassium ion transport (GO:0006813)|Ras protein signal transduction (GO:0007265)|regulation of gene silencing (GO:0060968)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	Cajal body (GO:0015030)|centrosome (GO:0005813)|chromosome, telomeric region (GO:0000781)|condensed chromosome (GO:0000793)|cyclin-dependent protein kinase holoenzyme complex (GO:0000307)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)|X chromosome (GO:0000805)|Y chromosome (GO:0000806)	ATP binding (GO:0005524)|cyclin binding (GO:0030332)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|metal ion binding (GO:0046872)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	18			UCEC - Uterine corpus endometrioid carcinoma (6;0.123)|OV - Ovarian serous cystadenocarcinoma(18;0.235)		Bosutinib(DB06616)	CAGCCCTGGCTCACCCTTTCT	0.527																																						ENST00000266970.4																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	18						c.(844-846)gcT>gcC		cyclin-dependent kinase 2							143	125	131					12																	56365358		2203	4300	6503	SO:0001819	synonymous_variant	1017				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|blood coagulation|cell division|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA replication|G1/S transition of mitotic cell cycle|G2 phase of mitotic cell cycle|G2/M transition of mitotic cell cycle|histone phosphorylation|M/G1 transition of mitotic cell cycle|mitosis|positive regulation of cell proliferation|Ras protein signal transduction|regulation of DNA replication|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|traversing start control point of mitotic cell cycle	cyclin-dependent protein kinase holoenzyme complex|cytosol	ATP binding|cyclin-dependent protein kinase activity|identical protein binding	g.chr12:56365358T>C	M68520	CCDS8898.1, CCDS8899.1	12q13	2011-11-08				ENSG00000123374		"Cyclin-dependent kinases"	1771	protein-coding gene	gene with protein product		116953				1717994, 8275715	Standard	NM_001798		Approved		uc001sit.4	P24941		ENST00000266970.4:c.846T>C	12.37:g.56365358T>C						CDK2_ENST00000440311.2_Silent_p.A222A|CDK2_ENST00000556656.1_3'UTR|CDK2_ENST00000553376.1_Silent_p.A330A|CDK2_ENST00000354056.4_Silent_p.A248A	p.A282A	NM_001798.3	NP_001789.2	P24941	CDK2_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (6;0.123)|OV - Ovarian serous cystadenocarcinoma(18;0.235)		7	1086	+			282			Protein kinase.		A8K7C6|O75100	Silent	SNP	ENST00000266970.4	37	c.846T>C	CCDS8898.1																																																																																				0.527	CDK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409650.1			38	124	0	0	0	1	0	38	124					C	56365358	T	C	56365358	2	2	259	1	0	0	0	0	0	0	0	1	3136	1538	54	4		4	CDK2	12	56365358	Silent	SNP	T	TCGA-HI-7169-01A-11D-2114-08	48563154	56365358	77486537	41	12193											
MON2	23041	broad.mit.edu	37	chr12	62902191	62902191	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagcaccagttgaaaaaccAtattttcctatctgcatgcg	12	11	6	12	1	1	1	0	1	1	0	2	1	2	1	4	0	4	3	4	0	4	5	rs369425233		TCGA-HI-7169-01A-11D-2114-08	TCGA-HI-7169-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1fc4226-40ce-43b7-b92e-aa7cecd0cf4d	263e1015-1061-4ad2-8f7e-ed430d2d9e80	g.chr12:62902191A>G	ENST00000393632.2	+	8	1306	c.915A>G	c.(913-915)ccA>ccG	p.P305P	MON2_ENST00000280379.6_Silent_p.P305P|MON2_ENST00000552115.1_Silent_p.P305P|MON2_ENST00000552738.1_Silent_p.P305P|MON2_ENST00000393630.3_Silent_p.P305P|MON2_ENST00000546600.1_Silent_p.P305P|MON2_ENST00000549378.1_3'UTR|MON2_ENST00000393629.2_Silent_p.P305P	NM_015026.2	NP_055841.2	Q7Z3U7	MON2_HUMAN	MON2 homolog (S. cerevisiae)	305					actin cytoskeleton organization (GO:0030036)|Golgi to endosome transport (GO:0006895)|positive regulation of GTPase activity (GO:0043547)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	extracellular vesicular exosome (GO:0070062)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(15)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	57			BRCA - Breast invasive adenocarcinoma(9;0.218)	GBM - Glioblastoma multiforme(28;0.128)		TTGAAAAACCATATTTTCCTA	0.373																																						ENST00000393630.3																			0				NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(15)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	57						c.(913-915)ccA>ccG		MON2 homolog (S. cerevisiae)		A		0,4406		0,0,2203	128	124	125		915	-10.2	0.6	12		125	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	MON2	NM_015026.2		0,1,6502	GG,GA,AA		0.0116,0.0,0.0077		305/1718	62902191	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	23041				Golgi to endosome transport|protein transport	cytoplasm	ARF guanyl-nucleotide exchange factor activity|binding	g.chr12:62902191A>G		CCDS31849.1, CCDS61175.1, CCDS61177.1, CCDS61178.1	12q14.1	2014-08-12	2006-04-04		ENSG00000061987	ENSG00000061987			29177	protein-coding gene	gene with protein product			"MON2 homolog (yeast)"			16301316, 24285343	Standard	NM_015026		Approved	KIAA1040	uc001sre.3	Q7Z3U7	OTTHUMG00000169992	ENST00000393632.2:c.915A>G	12.37:g.62902191A>G						MON2_ENST00000552115.1_Silent_p.P305P|MON2_ENST00000552738.1_Silent_p.P305P|MON2_ENST00000546600.1_Silent_p.P305P|MON2_ENST00000280379.6_Silent_p.P305P|MON2_ENST00000393629.2_Silent_p.P305P|MON2_ENST00000549378.1_3'UTR|MON2_ENST00000393632.2_Silent_p.P305P	p.P305P	NM_001278470.1|NM_001278472.1	NP_001265399.1|NP_001265401.1	Q7Z3U7	MON2_HUMAN	BRCA - Breast invasive adenocarcinoma(9;0.218)	GBM - Glioblastoma multiforme(28;0.128)	8	1306	+			305					A5D8U7|A7E2Y0|B9EGP5|F8VWA6|F8W1Z6|Q86TA2|Q8N3I5|Q8NAI0|Q8NHE2|Q9UPW1	Silent	SNP	ENST00000393632.2	37	c.915A>G	CCDS31849.1																																																																																				0.373	MON2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406767.3	NM_015026		37	80	0	0	0	1	0	37	80					G	62902191	A	G	62902191	2	3	259	1	0	0	0	0	0	0	0	1	9700	204	8	4		4	MON2	12	62902191	Silent	SNP	A	TCGA-HI-7169-01A-11D-2114-08	6536833	62902191	70949704	42	12194											
PCDH9	5101	broad.mit.edu	37	chr13	67205385	67205385	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgcttcagtcctcttgtcCggagaggcctggtcatagaa	7	12	11	11	1	4	2	2	0	2	2	6	3	6	2	3	3	1	1	3	3	2	3			TCGA-HI-7169-01A-11D-2114-08	TCGA-HI-7169-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1fc4226-40ce-43b7-b92e-aa7cecd0cf4d	263e1015-1061-4ad2-8f7e-ed430d2d9e80	g.chr13:67205385C>T	ENST00000377865.2	-	3	3431	c.3297G>A	c.(3295-3297)ccG>ccA	p.P1099P	PCDH9_ENST00000456367.1_Silent_p.P1065P|PCDH9_ENST00000328454.5_Silent_p.P1065P|RNU7-87P_ENST00000459343.1_RNA|PCDH9_ENST00000544246.1_Silent_p.P1099P			Q9HC56	PCDH9_HUMAN	protocadherin 9	1099					forebrain development (GO:0030900)|homophilic cell adhesion (GO:0007156)	cell-cell contact zone (GO:0044291)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		TCCTCTTGTCCGGAGAGGCCT	0.512																																						ENST00000544246.1																			0				breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103						c.(3295-3297)ccG>ccA		protocadherin 9							110	108	109					13																	67205385		2203	4300	6503	SO:0001819	synonymous_variant	5101				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr13:67205385C>T	AF169692	CCDS9443.1, CCDS9444.1	13q21.32	2010-02-22			ENSG00000184226	ENSG00000184226		"Cadherins / Protocadherins : Non-clustered"	8661	protein-coding gene	gene with protein product		603581				9787079	Standard	NM_020403		Approved		uc001vik.3	Q9HC56	OTTHUMG00000017040	ENST00000377865.2:c.3297G>A	13.37:g.67205385C>T						PCDH9_ENST00000456367.1_Silent_p.P1065P|PCDH9_ENST00000377865.2_Silent_p.P1099P|PCDH9_ENST00000328454.5_Silent_p.P1065P	p.P1099P	NM_203487.2	NP_982354.1	Q9HC56	PCDH9_HUMAN		GBM - Glioblastoma multiforme(99;0.00819)	4	3988	-		Hepatocellular(98;0.0906)|Breast(118;0.107)	1099					A2A6U1|Q5VT83|Q7Z3U0|Q8N3K7	Silent	SNP	ENST00000377865.2	37	c.3297G>A	CCDS9444.1																																																																																				0.512	PCDH9-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276387.1	NM_203487		7	116	0	0	0	1	0	7	116					T	67205385	C	T	67205385	2	4	259	1	0	0	0	0	0	0	0	1	11518	639	23	2		2	PCDH9	13	67205385	Silent	SNP	C	TCGA-HI-7169-01A-11D-2114-08		67205385	47964493	43	12195											
ACIN1	22985	broad.mit.edu	37	chr14	23559257	23559257	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgaaagtcaggaggcagcaGggaagccactccctcaggat	12	5	13	11	0	2	1	2	1	0	0	3	4	3	4	2	4	2	2	2	4	2	0			TCGA-HI-7169-01A-11D-2114-08	TCGA-HI-7169-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1fc4226-40ce-43b7-b92e-aa7cecd0cf4d	263e1015-1061-4ad2-8f7e-ed430d2d9e80	g.chr14:23559257G>C	ENST00000262710.1	-	4	871	c.544C>G	c.(544-546)Ctg>Gtg	p.L182V	ACIN1_ENST00000457657.1_Intron|ACIN1_ENST00000555053.1_Missense_Mutation_p.L182V|ACIN1_ENST00000605057.1_Missense_Mutation_p.L124V	NM_001164814.1|NM_014977.3	NP_001158286.1|NP_055792	Q9UKV3	ACINU_HUMAN	apoptotic chromatin condensation inducer 1	182	Glu-rich.				apoptotic chromosome condensation (GO:0030263)|apoptotic process (GO:0006915)|ATP catabolic process (GO:0006200)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|erythrocyte differentiation (GO:0030218)|mRNA processing (GO:0006397)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|positive regulation of apoptotic process (GO:0043065)|positive regulation of monocyte differentiation (GO:0045657)|RNA splicing (GO:0008380)	ASAP complex (GO:0061574)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATPase activity (GO:0016887)|enzyme binding (GO:0019899)|nucleic acid binding (GO:0003676)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(6)|kidney(4)|large_intestine(9)|lung(10)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	37	all_cancers(95;1.36e-05)			GBM - Glioblastoma multiforme(265;0.00816)		GGAGGCAGCAGGGAAGCCACT	0.582																																						ENST00000262710.1																			0				breast(1)|endometrium(6)|kidney(4)|large_intestine(9)|lung(10)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	37						c.(544-546)Ctg>Gtg		apoptotic chromatin condensation inducer 1							47	37	40					14																	23559257		2203	4300	6503	SO:0001583	missense	22985				apoptotic chromosome condensation|erythrocyte differentiation|positive regulation of monocyte differentiation	cytosol	ATPase activity|enzyme binding|nucleic acid binding|nucleotide binding	g.chr14:23559257G>C	AB014570	CCDS9587.1, CCDS53887.1, CCDS53888.1, CCDS53889.1, CCDS55905.1	14q11.2	2008-11-25	2004-03-31	2004-04-01	ENSG00000100813	ENSG00000100813			17066	protein-coding gene	gene with protein product	"functional spliceosome-associated protein 152"	604562	"apoptotic chromatin condensation inducer in the nucleus"	ACINUS		9734811, 10490026	Standard	NM_014977		Approved	KIAA0670, fSAP152	uc001wit.4	Q9UKV3	OTTHUMG00000028716	ENST00000262710.1:c.544C>G	14.37:g.23559257G>C	ENSP00000262710:p.Leu182Val					ACIN1_ENST00000605057.1_Missense_Mutation_p.L124V|ACIN1_ENST00000555053.1_Missense_Mutation_p.L182V|ACIN1_ENST00000457657.1_Intron	p.L182V	NM_001164814.1|NM_014977.3	NP_001158286.1|NP_055792.1	Q9UKV3	ACINU_HUMAN		GBM - Glioblastoma multiforme(265;0.00816)	4	871	-	all_cancers(95;1.36e-05)		182			Glu-rich.		B2RTT4|D3DS45|O75158|Q9UG91|Q9UKV1|Q9UKV2	Missense_Mutation	SNP	ENST00000262710.1	37	c.544C>G	CCDS9587.1	.	.	.	.	.	.	.	.	.	.	G	13.18	2.161520	0.38119	.	.	ENSG00000100813	ENST00000262710;ENST00000555053	T;T	0.14640	2.49;2.49	4.56	3.6	0.41247	.	0.000000	0.30510	N	0.009474	T	0.05914	0.0154	N	0.08118	0	0.80722	D	1	P;B	0.35348	0.496;0.363	B;B	0.30572	0.117;0.055	T	0.40251	-0.9573	10	0.30078	T	0.28	-6.3758	9.339	0.38067	0.0:0.0:0.7864:0.2136	.	182;182	G3V3M7;Q9UKV3	.;ACINU_HUMAN	V	182	ENSP00000262710:L182V;ENSP00000451328:L182V	ENSP00000262710:L182V	L	-	1	2	ACIN1	22629097	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.989000	0.40707	2.534000	0.85438	0.484000	0.47621	CTG		0.582	ACIN1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000071707.3	NM_014977		3	23	0	0	0	1	0	3	23					C	23559257	G	C	23559257	3	2	259	1	0	0	0	0	1	0	0	0	142	991	35	5	3692	5	ACIN1	14	23559257	Missense_Mutation	SNP	G	TCGA-HI-7169-01A-11D-2114-08		23559257	83790283	44	12196											
RYR3	6263	broad.mit.edu	37	chr15	34129958	34129958	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taaagacttaaccagctcagAcaccttcaaagaatatgacc	17	8	5	11	0	2	4	2	1	0	3	2	4	2	4	3	0	2	1	3	0	6	4			TCGA-HI-7169-01A-11D-2114-08	TCGA-HI-7169-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1fc4226-40ce-43b7-b92e-aa7cecd0cf4d	263e1015-1061-4ad2-8f7e-ed430d2d9e80	g.chr15:34129958A>G	ENST00000389232.4	+	89	11847	c.11777A>G	c.(11776-11778)gAc>gGc	p.D3926G	RYR3_ENST00000415757.3_Missense_Mutation_p.D3921G	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	3926					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		ACCAGCTCAGACACCTTCAAA	0.383																																						ENST00000389232.4																			0				NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311						c.(11776-11778)gAc>gGc		ryanodine receptor 3							72	67	69					15																	34129958		1850	4096	5946	SO:0001583	missense	6263				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr15:34129958A>G		CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"Ion channels / Ryanodine receptors", "EF-hand domain containing"	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.11777A>G	15.37:g.34129958A>G	ENSP00000373884:p.Asp3926Gly					RYR3_ENST00000415757.3_Missense_Mutation_p.D3921G	p.D3926G	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)	89	11847	+		all_lung(180;7.18e-09)	3926			EF-hand.		O15175|Q15412	Missense_Mutation	SNP	ENST00000389232.4	37	c.11777A>G	CCDS45210.1	.	.	.	.	.	.	.	.	.	.	A	17.05	3.290616	0.59976	.	.	ENSG00000198838	ENST00000389232;ENST00000361728	D	0.82893	-1.66	5.16	5.16	0.70880	EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	D	0.90177	0.6930	M	0.75615	2.305	0.58432	D	0.999997	D;D	0.76494	0.995;0.999	D;D	0.72982	0.92;0.979	D	0.90710	0.4627	10	0.52906	T	0.07	.	15.1662	0.72828	1.0:0.0:0.0:0.0	.	3921;3926	Q15413-2;Q15413	.;RYR3_HUMAN	G	3926;3922	ENSP00000373884:D3926G	ENSP00000354735:D3922G	D	+	2	0	RYR3	31917250	1.000000	0.71417	0.999000	0.59377	0.946000	0.59487	9.020000	0.93667	2.182000	0.69389	0.450000	0.29827	GAC		0.383	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1			3	16	0	0	0	1	0	3	16					G	34129958	A	G	34129958	3	3	259	1	0	0	0	0	1	0	0	0	13770	275	10	4	12131	4	RYR3	15	34129958	Missense_Mutation	SNP	A	TCGA-HI-7169-01A-11D-2114-08		34129958	68401434	45	12197											
CYP1A2	1544	broad.mit.edu	37	chr15	75044488	75044488	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtgattggcagggagcggCggccccggctctctgacaga	6	7	16	12	3	1	3	0	2	1	1	2	4	1	4	2	5	1	2	2	5	0	1	rs147333000	byFrequency	TCGA-HI-7169-01A-11D-2114-08	TCGA-HI-7169-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1fc4226-40ce-43b7-b92e-aa7cecd0cf4d	263e1015-1061-4ad2-8f7e-ed430d2d9e80	g.chr15:75044488C>T	ENST00000343932.4	+	5	1129	c.1066C>T	c.(1066-1068)Cgg>Tgg	p.R356W		NM_000761.3	NP_000752.2	P05177	CP1A2_HUMAN	cytochrome P450, family 1, subfamily A, polypeptide 2	356					alkaloid metabolic process (GO:0009820)|arachidonic acid metabolic process (GO:0019369)|cellular respiration (GO:0045333)|cellular response to cadmium ion (GO:0071276)|dibenzo-p-dioxin metabolic process (GO:0018894)|drug catabolic process (GO:0042737)|drug metabolic process (GO:0017144)|epoxygenase P450 pathway (GO:0019373)|exogenous drug catabolic process (GO:0042738)|heterocycle metabolic process (GO:0046483)|hydrogen peroxide biosynthetic process (GO:0050665)|lung development (GO:0030324)|methylation (GO:0032259)|monocarboxylic acid metabolic process (GO:0032787)|monoterpenoid metabolic process (GO:0016098)|omega-hydroxylase P450 pathway (GO:0097267)|oxidation-reduction process (GO:0055114)|oxidative deethylation (GO:0071615)|oxidative demethylation (GO:0070989)|porphyrin-containing compound metabolic process (GO:0006778)|post-embryonic development (GO:0009791)|regulation of gene expression (GO:0010468)|response to estradiol (GO:0032355)|response to lipopolysaccharide (GO:0032496)|small molecule metabolic process (GO:0044281)|steroid catabolic process (GO:0006706)|toxin biosynthetic process (GO:0009403)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)	aromatase activity (GO:0070330)|caffeine oxidase activity (GO:0034875)|demethylase activity (GO:0032451)|electron carrier activity (GO:0009055)|enzyme binding (GO:0019899)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity (GO:0016491)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen (GO:0016712)			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	33					"""Insulin(DB00071)|Acenocoumarol(DB01418)|Acetaminophen(DB00316)|Agomelatine(DB06594)|Albendazole(DB00518)|Alitretinoin(DB00523)|Almotriptan(DB00918)|Alosetron(DB00969)|Aminoglutethimide(DB00357)|Aminophenazone(DB01424)|Aminophylline(DB01223)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Anagrelide(DB00261)|Anastrozole(DB01217)|Antipyrine(DB01435)|Apixaban(DB06605)|Aprepitant(DB00673)|Asenapine(DB06216)|Atropine(DB00572)|Axitinib(DB06626)|Azelastine(DB00972)|Azithromycin(DB00207)|Benzyl alcohol(DB06770)|Betaxolol(DB00195)|Bortezomib(DB00188)|Bromazepam(DB01558)|Bromocriptine(DB01200)|Bupivacaine(DB00297)|Buprenorphine(DB00921)|Bupropion(DB01156)|Caffeine(DB00201)|Carbamazepine(DB00564)|Carmustine(DB00262)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Cimetidine(DB00501)|Cinacalcet(DB01012)|Cinnarizine(DB00568)|Ciprofloxacin(DB00537)|Cisapride(DB00604)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clenbuterol(DB01407)|Clevidipine(DB04920)|Clobetasol propionate(DB01013)|Clomifene(DB00882)|Clomipramine(DB01242)|Clonidine(DB00575)|Clopidogrel(DB00758)|Clotrimazole(DB00257)|Clozapine(DB00363)|Conjugated Estrogens(DB00286)|Cyclobenzaprine(DB00924)|Dacarbazine(DB00851)|Dapagliflozin(DB06292)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Delavirdine(DB00705)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexfenfluramine(DB01191)|Dexmedetomidine(DB00633)|Diazepam(DB00829)|Diclofenac(DB00586)|Dinoprostone(DB00917)|Diphenhydramine(DB01075)|Domperidone(DB01184)|Dopamine(DB00988)|Doxepin(DB01142)|Duloxetine(DB00476)|Edetic Acid(DB00974)|Efavirenz(DB00625)|Eltrombopag(DB06210)|Enoxacin(DB00467)|Epinephrine(DB00668)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Estradiol(DB00783)|Estrone(DB00655)|Estropipate(DB04574)|Ethanol(DB00898)|Etoposide(DB00773)|Etoricoxib(DB01628)|Flunarizine(DB04841)|Flunitrazepam(DB01544)|Fluorouracil(DB00544)|Fluoxetine(DB00472)|Fluphenazine(DB00623)|Flutamide(DB00499)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Frovatriptan(DB00998)|Gemfibrozil(DB01241)|Griseofulvin(DB00400)|Guanabenz(DB00629)|Haloperidol(DB00502)|Hesperetin(DB01094)|Hexobarbital(DB01355)|Iloperidone(DB04946)|Imatinib(DB00619)|Imipramine(DB00458)|Imiquimod(DB00724)|inhaled insulin(DB05278)|Insulin Aspart(DB01306)|Insulin Detemir(DB01307)|Insulin Glargine(DB00047)|Insulin Glulisine(DB01309)|Insulin Lispro(DB00046)|Insulin Regular(DB00030)|Irbesartan(DB01029)|Isoniazid(DB00951)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Leflunomide(DB01097)|Levobupivacaine(DB01002)|Levofloxacin(DB01137)|Lidocaine(DB00281)|Lomefloxacin(DB00978)|Lopinavir(DB01601)|Lorcaserin(DB04871)|Losartan(DB00678)|Lumiracoxib(DB01283)|Malathion(DB00772)|Maprotiline(DB00934)|Meclizine(DB00737)|Melatonin(DB01065)|Menadione(DB00170)|Methadone(DB00333)|Methimazole(DB00763)|Methotrimeprazine(DB01403)|Methoxsalen(DB00553)|Methoxyflurane(DB01028)|Mexiletine(DB00379)|Mianserin(DB06148)|Miconazole(DB01110)|Mirtazapine(DB00370)|Moclobemide(DB01171)|Modafinil(DB00745)|Nabumetone(DB00461)|Nafcillin(DB00607)|Naproxen(DB00788)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Niclosamide(DB06803)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nisoldipine(DB00401)|Nitric Oxide(DB00435)|Nitroprusside(DB00325)|Norepinephrine(DB00368)|Norfloxacin(DB01059)|Nortriptyline(DB00540)|Ofloxacin(DB01165)|Olanzapine(DB00334)|Omeprazole(DB00338)|Ondansetron(DB00904)|Oxaliplatin(DB00526)|Oxtriphylline(DB01303)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Pazopanib(DB06589)|Pefloxacin(DB00487)|Pentamidine(DB00738)|Pentoxifylline(DB00806)|Perphenazine(DB00850)|Phenobarbital(DB01174)|Phentermine(DB00191)|Phenylephrine(DB00388)|Phenylpropanolamine(DB00397)|Pimozide(DB01100)|Pipotiazine(DB01621)|Pomalidomide(DB08910)|Praziquantel(DB01058)|Primaquine(DB01087)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Propafenone(DB01182)|Propofol(DB00818)|Propranolol(DB00571)|Pyrazinamide(DB00339)|Quinidine(DB00908)|Quinine(DB00468)|Rabeprazole(DB01129)|Ramelteon(DB00980)|Ranitidine(DB00863)|Rasagiline(DB01367)|Rifabutin(DB00615)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Riluzole(DB00740)|Ritonavir(DB00503)|Rizatriptan(DB00953)|Ropinirole(DB00268)|Ropivacaine(DB00296)|Rosiglitazone(DB00412)|Rotigotine(DB05271)|Roxithromycin(DB00778)|Secobarbital(DB00418)|Selegiline(DB01037)|Sertraline(DB01104)|SIMEPREVIR(DB06290)|Sorafenib(DB00398)|Streptozocin(DB00428)|Sulindac(DB00605)|Tamoxifen(DB00675)|Telithromycin(DB00976)|Tenofovir(DB00300)|Terbinafine(DB00857)|Thalidomide(DB01041)|Theobromine(DB01412)|Theophylline(DB00277)|Thiabendazole(DB00730)|Thioridazine(DB00679)|Thiothixene(DB01623)|Ticlopidine(DB00208)|Tioconazole(DB01007)|Tizanidine(DB00697)|Tocainide(DB01056)|Toremifene(DB00539)|Tranylcypromine(DB00752)|Triamterene(DB00384)|Trifluoperazine(DB00831)|Valproic Acid(DB00313)|Vemurafenib(DB08881)|Verapamil(DB00661)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zileuton(DB00744)|Ziprasidone(DB00246)|Zolmitriptan(DB00315)|Zolpidem(DB00425)"	CAGGGAGCGGCGGCCCCGGCT	0.592													c|||	3	0.000599042	0.0023	0	5008	,	,		17045	0		0	False		,,,				2504	0					ENST00000343932.4																			0				breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	33						c.(1066-1068)Cgg>Tgg		cytochrome P450, family 1, subfamily A, polypeptide 2	Acenocoumarol(DB01418)|Acetaminophen(DB00316)|Aciclovir(DB00787)|Alosetron(DB00969)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Anagrelide(DB00261)|Azelastine(DB00972)|Bortezomib(DB00188)|Caffeine(DB00201)|Carmustine(DB00262)|Chlordiazepoxide(DB00475)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cimetidine(DB00501)|Cinacalcet(DB01012)|Ciprofloxacin(DB00537)|Clomipramine(DB01242)|Clotrimazole(DB00257)|Clozapine(DB00363)|Conjugated Estrogens(DB00286)|Cyclobenzaprine(DB00924)|Dacarbazine(DB00851)|Desloratadine(DB00967)|Diazepam(DB00829)|Dibucaine(DB00527)|Diclofenac(DB00586)|Duloxetine(DB00476)|Enoxacin(DB00467)|Esomeprazole(DB00736)|Estradiol(DB00783)|Estrone(DB00655)|Fluorouracil(DB00544)|Flutamide(DB00499)|Fluvoxamine(DB00176)|Frovatriptan(DB00998)|Grepafloxacin(DB00365)|Haloperidol(DB00502)|Hesperetin(DB01094)|Imipramine(DB00458)|Ketoconazole(DB01026)|Leflunomide(DB01097)|Levobupivacaine(DB01002)|Levofloxacin(DB01137)|Lidocaine(DB00281)|Lomefloxacin(DB00978)|Melatonin(DB01065)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mirtazapine(DB00370)|Norfloxacin(DB01059)|Nortriptyline(DB00540)|Ofloxacin(DB01165)|Olanzapine(DB00334)|Ondansetron(DB00904)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Pefloxacin(DB00487)|Pimozide(DB01100)|Propafenone(DB01182)|Propranolol(DB00571)|Quinidine(DB00908)|Ramelteon(DB00980)|Ranitidine(DB00863)|Rasagiline(DB01367)|Rifampin(DB01045)|Riluzole(DB00740)|Rofecoxib(DB00533)|Ropinirole(DB00268)|Ropivacaine(DB00296)|Tacrine(DB00382)|Telithromycin(DB00976)|Terfenadine(DB00342)|Theophylline(DB00277)|Thiabendazole(DB00730)|Tizanidine(DB00697)|Tolbutamide(DB01124)|Verapamil(DB00661)|Warfarin(DB00682)|Zileuton(DB00744)|Zolmitriptan(DB00315)	C	TRP/ARG	11,4383	16.8+/-37.8	0,11,2186	70	75	73		1066	-4.4	0	15	dbSNP_134	73	0,8592		0,0,4296	yes	missense	CYP1A2	NM_000761.3	101	0,11,6482	TT,TC,CC		0.0,0.2503,0.0847	benign	356/517	75044488	11,12975	2197	4296	6493	SO:0001583	missense	1544				alkaloid metabolic process|exogenous drug catabolic process|methylation|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative deethylation|oxidative demethylation|steroid catabolic process|toxin biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|caffeine oxidase activity|demethylase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding	g.chr15:75044488C>T	AF182274	CCDS32293.1	15q24.1	2013-11-11	2003-01-14		ENSG00000140505	ENSG00000140505	1.14.14.1	"Cytochrome P450s"	2596	protein-coding gene	gene with protein product		124060	"cytochrome P450, subfamily I (aromatic compound-inducible), polypeptide 2"			15128046	Standard	NM_000761		Approved	P3-450, CP12	uc002ayr.1	P05177	OTTHUMG00000172901	ENST00000343932.4:c.1066C>T	15.37:g.75044488C>T	ENSP00000342007:p.Arg356Trp						p.R356W	NM_000761.3	NP_000752.2	P05177	CP1A2_HUMAN			5	1129	+			356					Q16754|Q6NWU5|Q9BXX7|Q9UK49	Missense_Mutation	SNP	ENST00000343932.4	37	c.1066C>T	CCDS32293.1	.	.	.	.	.	.	.	.	.	.	C	11.41	1.629669	0.28978	0.002503	0.0	ENSG00000140505	ENST00000343932	T	0.69435	-0.4	4.54	-4.44	0.03557	.	2.855550	0.01242	N	0.008655	T	0.61999	0.2392	M	0.66439	2.03	0.09310	N	1	B	0.16166	0.016	B	0.08055	0.003	T	0.50996	-0.8761	10	0.49607	T	0.09	.	6.9658	0.24623	0.5382:0.2493:0.0:0.2125	.	356	P05177-2	.	W	356	ENSP00000342007:R356W	ENSP00000342007:R356W	R	+	1	2	CYP1A2	72831541	0.000000	0.05858	0.000000	0.03702	0.187000	0.23431	-0.089000	0.11180	-0.433000	0.07286	-0.385000	0.06624	CGG		0.592	CYP1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421263.2	NM_000761		26	89	0	0	0	1	0	26	89					T	75044488	C	T	75044488	3	4	259	1	0	0	0	0	1	0	0	0	4150	759	27	1	1080	1	CYP1A2	15	75044488	Missense_Mutation	SNP	C	TCGA-HI-7169-01A-11D-2114-08	40914530	75044488	27486904	46	12198											
SLCO3A1	28232	broad.mit.edu	37	chr15	92671666	92671666	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	attccttcactccagtgtgtGgggcagatggcatcacctac	8	11	10	12	0	2	1	2	0	0	1	4	1	4	1	3	3	1	2	3	3	1	3			TCGA-HI-7169-01A-11D-2114-08	TCGA-HI-7169-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1fc4226-40ce-43b7-b92e-aa7cecd0cf4d	263e1015-1061-4ad2-8f7e-ed430d2d9e80	g.chr15:92671666G>A	ENST00000318445.6	+	7	1673	c.1459G>A	c.(1459-1461)Ggg>Agg	p.G487R	SLCO3A1_ENST00000424469.2_Missense_Mutation_p.G487R|SLCO3A1_ENST00000555549.1_3'UTR	NM_013272.3	NP_037404.2	Q9UIG8	SO3A1_HUMAN	solute carrier organic anion transporter family, member 3A1	487	Kazal-like. {ECO:0000255|PROSITE- ProRule:PRU00798}.				sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2)	25	Lung NSC(78;0.0158)|all_lung(78;0.0255)		BRCA - Breast invasive adenocarcinoma(143;0.0841)		Alprostadil(DB00770)|Aminohippurate(DB00345)|Benzylpenicillin(DB01053)|Conjugated Estrogens(DB00286)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Iloprost(DB01088)|Methotrexate(DB00563)	TCCAGTGTGTGGGGCAGATGG	0.562																																						ENST00000318445.6																			0				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2)	25						c.(1459-1461)Ggg>Agg		solute carrier organic anion transporter family, member 3A1							168	130	143					15																	92671666		2198	4298	6496	SO:0001583	missense	28232				sodium-independent organic anion transport	integral to membrane|plasma membrane	sodium-independent organic anion transmembrane transporter activity	g.chr15:92671666G>A	AB031050	CCDS10371.1, CCDS45354.1	15q26	2013-05-22	2003-11-25	2003-11-26	ENSG00000176463	ENSG00000176463		"Solute carriers"	10952	protein-coding gene	gene with protein product		612435	"solute carrier family 21 (organic anion transporter), member 11"	SLC21A11			Standard	NM_001145044		Approved	OATP-D, OATP3A1	uc002bqx.2	Q9UIG8	OTTHUMG00000149846	ENST00000318445.6:c.1459G>A	15.37:g.92671666G>A	ENSP00000320634:p.Gly487Arg					SLCO3A1_ENST00000555549.1_3'UTR|SLCO3A1_ENST00000424469.2_Missense_Mutation_p.G487R	p.G487R	NM_013272.3	NP_037404.2	Q9UIG8	SO3A1_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0841)		7	1673	+	Lung NSC(78;0.0158)|all_lung(78;0.0255)		487			Kazal-like.		A8K4A7|B3KPY5|B3KUR7|C6G486|Q9BW73|Q9GZV2	Missense_Mutation	SNP	ENST00000318445.6	37	c.1459G>A	CCDS10371.1	.	.	.	.	.	.	.	.	.	.	G	29.5	5.014105	0.93404	.	.	ENSG00000176463	ENST00000318445;ENST00000424469;ENST00000555549	D;D	0.84589	-1.87;-1.87	5.46	5.46	0.80206	Proteinase inhibitor I1, Kazal (1);Major facilitator superfamily domain, general substrate transporter (1);Protease inhibitor, Kazal-type (1);	0.000000	0.85682	D	0.000000	D	0.94506	0.8231	M	0.92649	3.33	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.995	D;D;D	0.97110	1.0;1.0;0.944	D	0.95424	0.8510	10	0.87932	D	0	.	19.3038	0.94153	0.0:0.0:1.0:0.0	.	429;487;487	Q9UIG8-3;Q9UIG8-2;Q9UIG8	.;.;SO3A1_HUMAN	R	487;487;206	ENSP00000320634:G487R;ENSP00000387846:G487R	ENSP00000320634:G487R	G	+	1	0	SLCO3A1	90472670	1.000000	0.71417	0.991000	0.47740	0.995000	0.86356	9.193000	0.94954	2.569000	0.86673	0.655000	0.94253	GGG		0.562	SLCO3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313529.1	NM_013272		3	150	0	0	0	1	0	3	150					A	92671666	G	A	92671666	3	1	259	1	0	0	0	0	1	0	0	0	14728	1348	47	3	1485	3	SLCO3A1	15	92671666	Missense_Mutation	SNP	G	TCGA-HI-7169-01A-11D-2114-08	17627178	92671666	9859726	47	12199											
ADAMTS17	170691	broad.mit.edu	37	chr15	100533254	100533254	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gccagcaggctgctctcaccGtagaccagtccccagttttc	7	9	9	16	1	1	1	1	0	1	1	4	1	2	1	5	1	2	5	5	1	1	3	rs142633005	byFrequency	TCGA-HI-7169-01A-11D-2114-08	TCGA-HI-7169-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1fc4226-40ce-43b7-b92e-aa7cecd0cf4d	263e1015-1061-4ad2-8f7e-ed430d2d9e80	g.chr15:100533254G>A	ENST00000268070.4	-	20	3053	c.2948C>T	c.(2947-2949)aCg>aTg	p.T983M		NM_139057.2	NP_620688.2	Q8TE56	ATS17_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 17	983	TSP type-1 5. {ECO:0000255|PROSITE- ProRule:PRU00210}.					proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)	50	Lung NSC(78;0.00299)|all_lung(78;0.00457)|Melanoma(26;0.00571)		OV - Ovarian serous cystadenocarcinoma(32;0.0013)|LUSC - Lung squamous cell carcinoma(107;0.132)|Lung(145;0.161)	COAD - Colon adenocarcinoma(1;0.111)|all cancers(203;0.219)		TGCTCTCACCGTAGACCAGTC	0.617																																						ENST00000268070.4																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)	50						c.e20+1		ADAM metallopeptidase with thrombospondin type 1 motif, 17		G	MET/THR	0,4406		0,0,2203	91	73	79		2948	4.3	1	15	dbSNP_134	79	2,8598	2.2+/-6.3	0,2,4298	yes	missense-near-splice	ADAMTS17	NM_139057.2	81	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	probably-damaging	983/1096	100533254	2,13004	2203	4300	6503	SO:0001630	splice_region_variant	170691				proteolysis	intracellular|proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr15:100533254G>A	AJ315735	CCDS10383.1	15q24	2014-01-28	2005-08-19		ENSG00000140470	ENSG00000140470		"ADAM metallopeptidases with thrombospondin type 1 motif"	17109	protein-coding gene	gene with protein product		607511	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 17"			11867212	Standard	NM_139057		Approved	FLJ32769, FLJ16363	uc002bvv.1	Q8TE56	OTTHUMG00000149867	ENST00000268070.4:c.2949+1C>T	15.37:g.100533254G>A							p.T983_splice	NM_139057.2	NP_620688.2	Q8TE56	ATS17_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.0013)|LUSC - Lung squamous cell carcinoma(107;0.132)|Lung(145;0.161)	COAD - Colon adenocarcinoma(1;0.111)|all cancers(203;0.219)	20	3053	-	Lung NSC(78;0.00299)|all_lung(78;0.00457)|Melanoma(26;0.00571)		983			TSP type-1 5.		Q2I7G4|Q6ZN75	Splice_Site	SNP	ENST00000268070.4	37	c.2949_splice	CCDS10383.1	.	.	.	.	.	.	.	.	.	.	G	19.88	3.909147	0.72868	0.0	2.33E-4	ENSG00000140470	ENST00000268070	T	0.53423	0.62	5.41	4.3	0.51218	.	0.062583	0.64402	D	0.000011	T	0.44891	0.1315	L	0.42529	1.33	0.34333	D	0.687915	P	0.46395	0.877	P	0.44860	0.462	T	0.61008	-0.7149	10	0.72032	D	0.01	.	12.4275	0.55556	0.0:0.0:0.147:0.853	.	983	Q8TE56	ATS17_HUMAN	M	983	ENSP00000268070:T983M	ENSP00000268070:T983M	T	-	2	0	ADAMTS17	98350777	1.000000	0.71417	0.991000	0.47740	0.845000	0.48019	4.608000	0.61141	0.883000	0.36040	-0.262000	0.10625	ACG		0.617	ADAMTS17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313595.1	NM_139057	Missense_Mutation	3	57	0	0	0	1	0	3	57					A	100533254	G	A	100533254	5	1	259	1	0	0	0	0	0	0	1	0	262	1159	40	1	351	1	ADAMTS17	15	100533254	Splice_Site	SNP	G	TCGA-HI-7169-01A-11D-2114-08	7861588	100533254	1998138	48	12200											
FUK	197258	broad.mit.edu	37	chr16	70506485	70506485	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctcaacgtgccctggagtgaAttcttcaagaggacaggtgt	10	10	12	9	1	3	2	2	1	1	1	3	4	3	4	1	3	2	0	1	3	3	2			TCGA-HI-7169-01A-11D-2114-08	TCGA-HI-7169-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1fc4226-40ce-43b7-b92e-aa7cecd0cf4d	263e1015-1061-4ad2-8f7e-ed430d2d9e80	g.chr16:70506485A>G	ENST00000288078.6	+	14	1615	c.1383A>G	c.(1381-1383)gaA>gaG	p.E461E	FUK_ENST00000571514.1_5'UTR|FUK_ENST00000378912.2_Silent_p.E493E	NM_145059.2	NP_659496.2	Q8N0W3	FUK_HUMAN	fucokinase	461						cytoplasm (GO:0005737)	ATP binding (GO:0005524)|fucokinase activity (GO:0050201)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(11)|ovary(2)|prostate(2)	23		Ovarian(137;0.0694)				CCTGGAGTGAATTCTTCAAGA	0.607																																						ENST00000288078.6																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(11)|ovary(2)|prostate(2)	23						c.(1381-1383)gaA>gaG		fucokinase							58	59	59					16																	70506485		1949	4149	6098	SO:0001819	synonymous_variant	197258					cytoplasm	ATP binding|fucokinase activity	g.chr16:70506485A>G		CCDS10891.2	16q22.1	2008-02-05			ENSG00000157353	ENSG00000157353	2.7.1.52		29500	protein-coding gene	gene with protein product	"L-fucose kinase"	608675				12056818	Standard	XM_006721161		Approved	FLJ39408	uc002eyy.3	Q8N0W3	OTTHUMG00000074085	ENST00000288078.6:c.1383A>G	16.37:g.70506485A>G						FUK_ENST00000378912.2_Silent_p.E493E|FUK_ENST00000571514.1_5'UTR	p.E461E	NM_145059.2	NP_659496.2	Q8N0W3	FUK_HUMAN			14	1615	+		Ovarian(137;0.0694)	461					Q5PSM3|Q5XKL6|Q6ZRA0|Q96MT9	Silent	SNP	ENST00000288078.6	37	c.1383A>G	CCDS10891.2																																																																																				0.607	FUK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157291.2	NM_145059		9	38	0	0	0	1	0	9	38					G	70506485	A	G	70506485	2	3	259	1	0	0	0	0	0	0	0	1	6096	98	4	4		4	FUK	16	70506485	Silent	SNP	A	TCGA-HI-7169-01A-11D-2114-08		70506485	19848268	49	12201											
RNMTL1	55178	broad.mit.edu	37	chr17	695199	695199	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgctgatccccgttgtgcctGgtgtggacagcctcaactcg	5	11	12	13	2	1	1	1	1	0	0	3	2	2	2	4	2	4	2	4	2	1	1			TCGA-HI-7169-01A-11D-2114-08	TCGA-HI-7169-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1fc4226-40ce-43b7-b92e-aa7cecd0cf4d	263e1015-1061-4ad2-8f7e-ed430d2d9e80	g.chr17:695199G>A	ENST00000304478.4	+	4	1259	c.1153G>A	c.(1153-1155)Ggt>Agt	p.G385S	RP11-676J12.8_ENST00000574560.1_RNA	NM_018146.2	NP_060616.1			RNA methyltransferase like 1											breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	10				UCEC - Uterine corpus endometrioid carcinoma (25;0.0219)		CGTTGTGCCTGGTGTGGACAG	0.637																																						ENST00000304478.4																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	10						c.(1153-1155)Ggt>Agt		RNA methyltransferase like 1							55	52	53					17																	695199		2203	4300	6503	SO:0001583	missense	55178				RNA processing		protein binding|RNA binding|RNA methyltransferase activity	g.chr17:695199G>A	AF177344	CCDS10997.1	17p13.3	2008-02-05			ENSG00000171861	ENSG00000171861			18485	protein-coding gene	gene with protein product		612600				12296377	Standard	NM_018146		Approved	FLJ10581, HC90	uc002frw.3	Q9HC36	OTTHUMG00000090285	ENST00000304478.4:c.1153G>A	17.37:g.695199G>A	ENSP00000306080:p.Gly385Ser						p.G385S	NM_018146.2	NP_060616.1	Q9HC36	RMTL1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.0219)	4	1259	+			385						Missense_Mutation	SNP	ENST00000304478.4	37	c.1153G>A	CCDS10997.1	.	.	.	.	.	.	.	.	.	.	G	20.5	3.999759	0.74818	.	.	ENSG00000171861	ENST00000304478	T	0.39997	1.05	5.63	5.63	0.86233	tRNA/rRNA methyltransferase, SpoU (1);	0.253133	0.45361	D	0.000377	T	0.59074	0.2167	L	0.53729	1.69	0.50813	D	0.999899	D	0.54964	0.969	P	0.62014	0.897	T	0.54622	-0.8266	10	0.42905	T	0.14	-17.5772	18.6591	0.91465	0.0:0.0:1.0:0.0	.	385	Q9HC36	RMTL1_HUMAN	S	385	ENSP00000306080:G385S	ENSP00000306080:G385S	G	+	1	0	RNMTL1	641949	1.000000	0.71417	0.998000	0.56505	0.527000	0.34593	6.445000	0.73456	2.657000	0.90304	0.491000	0.48974	GGT		0.637	RNMTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206611.1	NM_018146		3	54	0	0	0	1	0	3	54					A	695199	G	A	695199	3	1	259	1	0	0	0	0	1	0	0	0	13507	1348	47	3	1167	3	RNMTL1	17	695199	Missense_Mutation	SNP	G	TCGA-HI-7169-01A-11D-2114-08		695199	80500011	50	12202											
TNFRSF13B	23495	broad.mit.edu	37	chr17	16842993	16842993	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ccagcacaagtggggtcgggGgtcccaggcgtgactgcgct	6	6	17	12	3	0	1	0	1	0	0	2	1	1	1	2	5	2	2	2	5	1	0			TCGA-HI-7169-01A-11D-2114-08	TCGA-HI-7169-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1fc4226-40ce-43b7-b92e-aa7cecd0cf4d	263e1015-1061-4ad2-8f7e-ed430d2d9e80	g.chr17:16842993G>A	ENST00000261652.2	-	5	762	c.750C>T	c.(748-750)acC>acT	p.T250T	TNFRSF13B_ENST00000583789.1_Silent_p.T204T|TNFRSF13B_ENST00000581616.2_5'Flank|TNFRSF13B_ENST00000579315.1_Intron|TNFRSF13B_ENST00000437538.2_Silent_p.T204T	NM_012452.2	NP_036584.1	O14836	TR13B_HUMAN	tumor necrosis factor receptor superfamily, member 13B	250					B cell homeostasis (GO:0001782)|cell surface receptor signaling pathway (GO:0007166)|hematopoietic progenitor cell differentiation (GO:0002244)|negative regulation of B cell proliferation (GO:0030889)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)	receptor activity (GO:0004872)			endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(7)|skin(1)	16						TGGGGTCGGGGGTCCCAGGCG	0.657									IgA Deficiency, Selective																													ENST00000437538.2																			0				endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(7)|skin(1)	16						c.(610-612)acC>acT		tumor necrosis factor receptor superfamily, member 13B							37	34	35					17																	16842993		2203	4300	6503	SO:0001819	synonymous_variant	23495	IgA Deficiency, Selective	Familial Cancer Database	IGAD1, IGAD2	cell surface receptor linked signaling pathway	integral to plasma membrane	protein binding|receptor activity	g.chr17:16842993G>A	AF023614	CCDS11181.1	17p11.2	2014-09-17			ENSG00000240505	ENSG00000240505		"Tumor necrosis factor receptor superfamily", "CD molecules"	18153	protein-coding gene	gene with protein product		604907				9311921	Standard	NM_012452		Approved	TACI, CD267	uc002gqs.1	O14836	OTTHUMG00000059262	ENST00000261652.2:c.750C>T	17.37:g.16842993G>A						TNFRSF13B_ENST00000579315.1_Intron|TNFRSF13B_ENST00000261652.2_Silent_p.T250T|TNFRSF13B_ENST00000583789.1_Silent_p.T204T	p.T204T			O14836	TR13B_HUMAN			4	620	-			250					B2R8B0|B7Z6V8|Q32LX4|Q7Z6F5	Silent	SNP	ENST00000261652.2	37	c.612C>T	CCDS11181.1																																																																																				0.657	TNFRSF13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131474.2			3	38	0	0	0	1	0	3	38					A	16842993	G	A	16842993	2	1	259	1	0	0	0	0	0	0	0	1	16284	1219	43	3		3	TNFRSF13B	17	16842993	Silent	SNP	G	TCGA-HI-7169-01A-11D-2114-08	16147794	16842993	64352217	51	12203											
RDM1	201299	broad.mit.edu	37	chr17	34247216	34247216	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttaaaccgtgtagttcttctTcgcatctgacacctacgatg	9	14	7	11	3	3	1	0	1	3	0	4	2	3	1	2	0	2	3	2	0	4	6			TCGA-HI-7169-01A-11D-2114-08	TCGA-HI-7169-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1fc4226-40ce-43b7-b92e-aa7cecd0cf4d	263e1015-1061-4ad2-8f7e-ed430d2d9e80	g.chr17:34247216T>C	ENST00000293273.6	-	6	773	c.728A>G	c.(727-729)gAa>gGa	p.E243G	RDM1_ENST00000394529.3_Missense_Mutation_p.E220G|RDM1_ENST00000431884.2_Missense_Mutation_p.E210G|RDM1_ENST00000419453.2_Missense_Mutation_p.E187G|RDM1_ENST00000591402.1_Intron|RDM1_ENST00000425909.3_Intron	NM_145654.3	NP_663629.1	Q8NG50	RDM1_HUMAN	RAD52 motif containing 1	243					DNA recombination (GO:0006310)|DNA repair (GO:0006281)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)	DNA binding (GO:0003677)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			breast(1)|kidney(3)|large_intestine(2)|ovary(1)|skin(1)|stomach(1)	9		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		TAGTTCTTCTTCGCATCTGAC	0.373								Other identified genes with known or suspected DNA repair function																														ENST00000394529.3																			0				breast(1)|kidney(3)|large_intestine(2)|ovary(1)|skin(1)|stomach(1)	9						c.(658-660)gAa>gGa	Other identified genes with known or suspected DNA repair function	RAD52 motif 1							142	134	137					17																	34247216		2203	4300	6503	SO:0001583	missense	201299				DNA recombination|DNA repair	Cajal body|cytoplasm|nucleolus|PML body	DNA binding|nucleotide binding|RNA binding	g.chr17:34247216T>C	AB080728	CCDS11301.1, CCDS42299.1, CCDS54111.1, CCDS54108.1, CCDS54109.1, CCDS54110.1, CCDS59280.1, CCDS59281.1	17q11.2	2014-04-10	2014-04-10	2005-10-20	ENSG00000187456	ENSG00000278023		"RNA binding motif (RRM) containing"	19950	protein-coding gene	gene with protein product		612896	"RAD52 homolog B (S. cerevisiae)", "RAD52 motif 1"	RAD52B		15611051	Standard	NM_001163120		Approved	MGC33977	uc002hkh.3	Q8NG50	OTTHUMG00000188399	ENST00000293273.6:c.728A>G	17.37:g.34247216T>C	ENSP00000293273:p.Glu243Gly					RDM1_ENST00000293273.6_Missense_Mutation_p.E243G|RDM1_ENST00000425909.3_Intron|RDM1_ENST00000591402.1_Intron|RDM1_ENST00000431884.2_Missense_Mutation_p.E210G|RDM1_ENST00000419453.2_Missense_Mutation_p.E187G	p.E220G	NM_001163130.1	NP_001156602.1	Q8NG50	RDM1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)	5	1145	-		Ovarian(249;0.17)	243					A0JP55|A8MV46|A8MY68|A8MZ92|A8RCS5|A8RCT0|A8RCT5|A8RCT8|A8RCU3|A8RCU8|A8RCW0|A8RCW5	Missense_Mutation	SNP	ENST00000293273.6	37	c.659A>G	CCDS11301.1	.	.	.	.	.	.	.	.	.	.	T	11.91	1.778695	0.31502	.	.	ENSG00000187456	ENST00000293273;ENST00000419453;ENST00000394529;ENST00000431884	T;T;T	0.35789	1.29;1.29;1.29	2.57	2.57	0.30868	.	0.384577	0.21252	N	0.077631	T	0.29882	0.0747	L	0.59436	1.845	0.80722	D	1	P;P;B;P	0.36535	0.557;0.557;0.421;0.557	B;B;B;B	0.31101	0.086;0.124;0.058;0.086	T	0.27157	-1.0082	10	0.72032	D	0.01	-5.2096	8.9715	0.35910	0.0:0.0:0.0:1.0	.	210;220;243;187	Q8NG50-5;Q8NG50-2;Q8NG50;Q8NG50-6	.;.;RDM1_HUMAN;.	G	243;89;220;210	ENSP00000293273:E243G;ENSP00000378037:E220G;ENSP00000391290:E210G	ENSP00000293273:E243G	E	-	2	0	RDM1	31271329	0.426000	0.25506	0.100000	0.21137	0.010000	0.07245	1.687000	0.37680	1.425000	0.47237	0.477000	0.44152	GAA		0.373	RDM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256588.2	NM_145654		7	89	0	0	0	1	0	7	89					C	34247216	T	C	34247216	3	2	259	1	0	0	0	0	1	0	0	0	13197	1783	62	4	134	4	RDM1	17	34247216	Missense_Mutation	SNP	T	TCGA-HI-7169-01A-11D-2114-08	17404223	34247216	46947994	52	12204											
KRTAP4-9	100132386	broad.mit.edu	37	chr17	39262078	39262078	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgccagtctgtgtgctgccaGcccaactgctgccgccccag	5	8	11	17	1	1	0	0	0	1	0	1	0	1	0	6	0	7	2	6	0	1	0			TCGA-HI-7169-01A-11D-2114-08	TCGA-HI-7169-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1fc4226-40ce-43b7-b92e-aa7cecd0cf4d	263e1015-1061-4ad2-8f7e-ed430d2d9e80	g.chr17:39262078G>T	ENST00000391415.1	+	1	495	c.438G>T	c.(436-438)caG>caT	p.Q146H		NM_001146041.1	NP_001139513.1	Q9BYQ8	KRA49_HUMAN	keratin associated protein 4-9	146	29 X 5 AA repeats of C-C-[RQVHIEK]- [SPTR]-[VSTQCRNP].				aging (GO:0007568)|hair cycle (GO:0042633)	keratin filament (GO:0045095)				central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|urinary_tract(3)	14						tgtgctgccagcccaactgct	0.667																																						ENST00000391415.1																			0				central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|urinary_tract(3)	14						c.(436-438)caG>caT		keratin associated protein 4-9							5	9	8					17																	39262078		667	1554	2221	SO:0001583	missense	100132386					keratin filament		g.chr17:39262078G>T	AJ406941	CCDS54124.1	17q21.2	2013-06-25			ENSG00000212722	ENSG00000212722		"Keratin associated proteins"	18910	protein-coding gene	gene with protein product							Standard	NM_001146041		Approved	KAP4.9	uc010wfp.2	Q9BYQ8	OTTHUMG00000133584	ENST00000391415.1:c.438G>T	17.37:g.39262078G>T	ENSP00000375234:p.Gln146His						p.Q146H	NM_001146041.1	NP_001139513.1	Q9BYQ8	KRA49_HUMAN			1	495	+			146			29 X 5 AA repeats of C-C-[RQVHIEK]- [SPTR]-[VSTQCRNP].			Missense_Mutation	SNP	ENST00000391415.1	37	c.438G>T	CCDS54124.1	.	.	.	.	.	.	.	.	.	.	.	9.438	1.087415	0.20390	.	.	ENSG00000212722	ENST00000377734;ENST00000391415;ENST00000333994	T	0.00599	6.3	3.13	-6.26	0.02033	.	1.171440	0.07222	U	0.861106	T	0.00496	0.0016	L	0.60455	1.87	0.09310	N	1	P	0.36944	0.574	B	0.28784	0.094	T	0.35798	-0.9774	10	0.42905	T	0.14	.	2.6238	0.04924	0.1962:0.4023:0.2758:0.1256	.	146	Q9BYQ8	KRA49_HUMAN	H	134;146;137	ENSP00000375234:Q146H	ENSP00000334461:Q137H	Q	+	3	2	KRTAP4-9	36515604	0.000000	0.05858	0.001000	0.08648	0.073000	0.16967	-3.832000	0.00355	-0.921000	0.03794	0.306000	0.20318	CAG		0.667	KRTAP4-9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257688.1	NM_001146041		4	28	1	0	0.000602214	1	0.000669127	4	28					T	39262078	G	T	39262078	3	4	259	1	0	0	0	0	1	0	0	0	8557	962	34	5	440	5	KRTAP4-9	17	39262078	Missense_Mutation	SNP	G	TCGA-HI-7169-01A-11D-2114-08	5014862	39262078	41933132	53	12205											
GPR108	56927	broad.mit.edu	37	chr19	6731108	6731108	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acgaagaaggccagggtggaGccctccaccaagagctgggg	11	3	16	11	1	0	2	0	0	0	2	1	4	1	3	4	5	2	1	4	5	3	0			TCGA-HI-7169-01A-11D-2114-08	TCGA-HI-7169-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1fc4226-40ce-43b7-b92e-aa7cecd0cf4d	263e1015-1061-4ad2-8f7e-ed430d2d9e80	g.chr19:6731108G>A	ENST00000264080.7	-	17	1475	c.1449C>T	c.(1447-1449)ggC>ggT	p.G483G	GPR108_ENST00000598626.1_Intron|GPR108_ENST00000430424.4_Silent_p.G241G	NM_001080452.1	NP_001073921.1	Q9NPR9	GP108_HUMAN	G protein-coupled receptor 108	483						integral component of membrane (GO:0016021)				breast(2)|cervix(1)|large_intestine(4)|lung(4)|skin(1)|urinary_tract(1)	13						CCAGGGTGGAGCCCTCCACCA	0.692																																						ENST00000264080.7																			0				breast(2)|cervix(1)|large_intestine(4)|lung(4)|skin(1)|urinary_tract(1)	13						c.(1447-1449)ggC>ggT		G protein-coupled receptor 108							44	50	48					19																	6731108		1990	4155	6145	SO:0001819	synonymous_variant	56927					integral to membrane		g.chr19:6731108G>A		CCDS42479.1	19p13.3	2014-01-30				ENSG00000125734		"GPCR / Unclassified : 7TM orphan receptors"	17829	protein-coding gene	gene with protein product							Standard	NM_001080452		Approved	LUSTR2	uc002mfp.3	Q9NPR9	OTTHUMG00000170129	ENST00000264080.7:c.1449C>T	19.37:g.6731108G>A						GPR108_ENST00000430424.4_Silent_p.G241G|GPR108_ENST00000598626.1_Intron	p.G483G	NM_001080452.1	NP_001073921.1	Q9NPR9	GP108_HUMAN			17	1475	-			483					B9EJD7	Silent	SNP	ENST00000264080.7	37	c.1449C>T	CCDS42479.1																																																																																				0.692	GPR108-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407508.2			3	45	0	0	0	1	0	3	45					A	6731108	G	A	6731108	2	1	259	1	0	0	0	0	0	0	0	1	6624	958	34	3		3	GPR108	19	6731108	Silent	SNP	G	TCGA-HI-7169-01A-11D-2114-08		6731108	52397875	54	12206											
RYR1	6261	broad.mit.edu	37	chr19	38976783	38976783	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcagcacgctcgcgaccccGtcgggggctccgtggagttc	4	6	16	15	6	0	0	0	0	0	0	4	2	1	1	3	4	1	5	3	4	0	1	rs147603571		TCGA-HI-7169-01A-11D-2114-08	TCGA-HI-7169-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1fc4226-40ce-43b7-b92e-aa7cecd0cf4d	263e1015-1061-4ad2-8f7e-ed430d2d9e80	g.chr19:38976783G>A	ENST00000359596.3	+	34	5488	c.5488G>A	c.(5488-5490)Gtc>Atc	p.V1830I	RYR1_ENST00000360985.3_Missense_Mutation_p.V1830I|RYR1_ENST00000355481.4_Missense_Mutation_p.V1830I			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	1830	6 X approximate repeats.				calcium ion transport (GO:0006816)|cellular response to caffeine (GO:0071313)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|ossification involved in bone maturation (GO:0043931)|outflow tract morphogenesis (GO:0003151)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|skeletal muscle fiber development (GO:0048741)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|integral component of plasma membrane (GO:0005887)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|voltage-gated calcium channel activity (GO:0005245)			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	TCGCGACCCCGTCGGGGGCTC	0.667																																						ENST00000355481.4																			0				NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285						c.(5488-5490)Gtc>Atc		ryanodine receptor 1 (skeletal)	Dantrolene(DB01219)	G	ILE/VAL,ILE/VAL	0,4362		0,0,2181	96	96	96		5488,5488	3.7	1	19	dbSNP_134	96	1,8515		0,1,4257	no	missense,missense	RYR1	NM_000540.2,NM_001042723.1	29,29	0,1,6438	AA,AG,GG		0.0117,0.0,0.0078	probably-damaging,probably-damaging	1830/5039,1830/5034	38976783	1,12877	2181	4258	6439	SO:0001583	missense	6261				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr19:38976783G>A	J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"Ion channels / Ryanodine receptors"	10483	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 137"	180901	"central core disease of muscle"	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.5488G>A	19.37:g.38976783G>A	ENSP00000352608:p.Val1830Ile					RYR1_ENST00000360985.3_Missense_Mutation_p.V1830I|RYR1_ENST00000359596.3_Missense_Mutation_p.V1830I	p.V1830I	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		34	5619	+	all_cancers(60;7.91e-06)		1830			6 X approximate repeats.		Q16314|Q16368|Q9NPK1|Q9P1U4	Missense_Mutation	SNP	ENST00000359596.3	37	c.5488G>A	CCDS33011.1	.	.	.	.	.	.	.	.	.	.	G	15.29	2.788791	0.49997	0.0	1.17E-4	ENSG00000196218	ENST00000359596;ENST00000355481;ENST00000360985	T;T;T	0.75477	-0.94;-0.94;-0.94	3.7	3.7	0.42460	.	0.000000	0.56097	U	0.000025	T	0.76681	0.4021	L	0.31752	0.955	0.46241	D	0.998947	D;P	0.76494	0.999;0.812	D;B	0.76071	0.987;0.362	T	0.72137	-0.4381	10	0.16896	T	0.51	.	15.2171	0.73277	0.0:0.0:1.0:0.0	.	1830;1830	P21817-2;P21817	.;RYR1_HUMAN	I	1830	ENSP00000352608:V1830I;ENSP00000347667:V1830I;ENSP00000354254:V1830I	ENSP00000347667:V1830I	V	+	1	0	RYR1	43668623	1.000000	0.71417	0.963000	0.40424	0.945000	0.59286	9.556000	0.98127	1.886000	0.54624	0.585000	0.79938	GTC		0.667	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1			5	190	0	0	0	1	0	5	190					A	38976783	G	A	38976783	3	1	259	1	0	0	0	0	1	0	0	0	13768	1145	40	1	5622	1	RYR1	19	38976783	Missense_Mutation	SNP	G	TCGA-HI-7169-01A-11D-2114-08	32245675	38976783	20152200	55	12207											
GLTSCR1	29998	broad.mit.edu	37	chr19	48204803	48204805	+	In_Frame_Del	DEL	TCC	TCC	-																															cctcctccctgtcctcctctTcctcctcctcctctgccgcc																										TCGA-HI-7169-01A-11D-2114-08	TCGA-HI-7169-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1fc4226-40ce-43b7-b92e-aa7cecd0cf4d	263e1015-1061-4ad2-8f7e-ed430d2d9e80	g.chr19:48204803_48204805delTCC	ENST00000396720.3	+	15	4008_4010	c.3814_3816delTCC	c.(3814-3816)tccdel	p.S1276del	CTD-2571L23.8_ENST00000599924.1_lincRNA	NM_015711.3	NP_056526.3	Q9NZM4	GSCR1_HUMAN	glioma tumor suppressor candidate region gene 1	1276	Poly-Ser.									breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|pancreas(3)|prostate(4)|skin(2)	20		all_cancers(25;1.8e-07)|all_lung(116;5.73e-06)|Lung NSC(112;9.69e-06)|all_epithelial(76;2.42e-05)|all_neural(266;0.0332)|Ovarian(192;0.086)		all cancers(93;0.000358)|OV - Ovarian serous cystadenocarcinoma(262;0.000576)|Epithelial(262;0.0212)|GBM - Glioblastoma multiforme(486;0.0355)		gtcctcctcttcctcctcctcct	0.719																																						ENST00000396720.3																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|pancreas(3)|prostate(4)|skin(2)	20						c.(3814-3816)del		glioma tumor suppressor candidate region gene 1				57,3605		20,17,1794						-3.1	0			8	135,7387		47,41,3673	no	coding	GLTSCR1	NM_015711.3		67,58,5467	A1A1,A1R,RR		1.7947,1.5565,1.7167				192,10992				SO:0001651	inframe_deletion	29998						protein binding	g.chr19:48204803_48204805delTCC	AF182077	CCDS46134.1	19q13.3	2012-11-29			ENSG00000063169	ENSG00000063169			4332	protein-coding gene	gene with protein product		605690				10708517	Standard	NM_015711		Approved		uc002phh.4	Q9NZM4		ENST00000396720.3:c.3814_3816delTCC	19.37:g.48204812_48204814delTCC	ENSP00000379946:p.Ser1276del					CTD-2571L23.8_ENST00000599924.1_lincRNA	p.S1276del	NM_015711.3	NP_056526.3	Q9NZM4	GSCR1_HUMAN		all cancers(93;0.000358)|OV - Ovarian serous cystadenocarcinoma(262;0.000576)|Epithelial(262;0.0212)|GBM - Glioblastoma multiforme(486;0.0355)	15	4008_4010	+		all_cancers(25;1.8e-07)|all_lung(116;5.73e-06)|Lung NSC(112;9.69e-06)|all_epithelial(76;2.42e-05)|all_neural(266;0.0332)|Ovarian(192;0.086)	1276			Poly-Ser.		A8MW01	In_Frame_Del	DEL	ENST00000396720.3	37	c.3814_3816delTCC	CCDS46134.1																																																																																				0.719	GLTSCR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465846.1	NM_015711		2	4						2	4	---	---	---	---	-	48204805	TCC	-	48204803	7	5	259	1	0	1	0	1	0	0	0	0	6474	1783	62	0	3864	0	GLTSCR1	19	48204803	In_Frame_Del	DEL	TCC	TCGA-HI-7169-01A-11D-2114-08	9228020	48204803	10924180	56	12208											
PLCB4	5332	broad.mit.edu	37	chr20	9364983	9364983	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catcagttcttcccataacaCttatctcactggcagacagt	11	12	5	13	0	3	1	2	0	2	1	5	1	4	1	1	1	1	2	1	1	2	4			TCGA-HI-7169-01A-11D-2114-08	TCGA-HI-7169-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1fc4226-40ce-43b7-b92e-aa7cecd0cf4d	263e1015-1061-4ad2-8f7e-ed430d2d9e80	g.chr20:9364983C>T	ENST00000378493.1	+	11	1004	c.989C>T	c.(988-990)aCt>aTt	p.T330I	PLCB4_ENST00000278655.4_Missense_Mutation_p.T330I|PLCB4_ENST00000334005.3_Missense_Mutation_p.T330I|PLCB4_ENST00000378501.2_Missense_Mutation_p.T330I|PLCB4_ENST00000414679.2_Missense_Mutation_p.T330I|PLCB4_ENST00000378473.3_Missense_Mutation_p.T330I|PLCB4_ENST00000492632.1_3'UTR			Q15147	PLCB4_HUMAN	phospholipase C, beta 4	330	PI-PLC X-box. {ECO:0000255|PROSITE- ProRule:PRU00270}.				inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|dendrite (GO:0030425)|nucleus (GO:0005634)|postsynaptic density (GO:0014069)|smooth endoplasmic reticulum (GO:0005790)	calcium ion binding (GO:0005509)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						TCCCATAACACTTATCTCACT	0.468																																						ENST00000378501.2																			0				NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						c.(988-990)aCt>aTt		phospholipase C, beta 4							141	126	131					20																	9364983		2203	4300	6503	SO:0001583	missense	5332				intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity	g.chr20:9364983C>T		CCDS13104.1, CCDS13105.1, CCDS54447.1	20p12	2008-03-18			ENSG00000101333	ENSG00000101333	3.1.4.11		9059	protein-coding gene	gene with protein product		600810				8530101	Standard	NM_000933		Approved		uc021wam.1	Q15147	OTTHUMG00000031853	ENST00000378493.1:c.989C>T	20.37:g.9364983C>T	ENSP00000367754:p.Thr330Ile					PLCB4_ENST00000378493.1_Missense_Mutation_p.T330I|PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000378473.3_Missense_Mutation_p.T330I|PLCB4_ENST00000334005.3_Missense_Mutation_p.T330I|PLCB4_ENST00000278655.4_Missense_Mutation_p.T330I|PLCB4_ENST00000414679.2_Missense_Mutation_p.T330I	p.T330I	NM_000933.3	NP_000924.3	Q15147	PLCB4_HUMAN			11	1004	+			330			PI-PLC X-box.		B7ZLK6|E2QRH8|Q17R56|Q5JYS8|Q5JYS9|Q5JYT0|Q5JYT3|Q5JYT4|Q9BQW5|Q9BQW6|Q9BQW8|Q9UJQ2	Missense_Mutation	SNP	ENST00000378493.1	37	c.989C>T	CCDS13105.1	.	.	.	.	.	.	.	.	.	.	C	27.6	4.842862	0.91197	.	.	ENSG00000101333	ENST00000334005;ENST00000378473;ENST00000278655;ENST00000378493;ENST00000378501;ENST00000414679	T;T;T;T;T;T	0.68765	-0.35;-0.35;-0.35;-0.35;-0.35;-0.35	5.93	5.93	0.95920	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);Phospholipase C, phosphatidylinositol-specific , X domain (3);	0.043976	0.85682	D	0.000000	D	0.91720	0.7382	H	0.99881	4.885	0.80722	D	1	D;P;D;D	0.89917	1.0;0.922;0.997;1.0	D;D;D;D	0.97110	1.0;0.919;0.995;1.0	D	0.95163	0.8283	10	0.87932	D	0	.	20.3363	0.98740	0.0:1.0:0.0:0.0	.	330;177;330;330	E2QRH8;Q15147-2;Q15147;Q15147-4	.;.;PLCB4_HUMAN;.	I	330;330;330;330;330;166	ENSP00000334105:T330I;ENSP00000367734:T330I;ENSP00000278655:T330I;ENSP00000367754:T330I;ENSP00000367762:T330I;ENSP00000390616:T166I	ENSP00000278655:T330I	T	+	2	0	PLCB4	9312983	1.000000	0.71417	1.000000	0.80357	0.830000	0.47004	7.426000	0.80270	2.814000	0.96858	0.563000	0.77884	ACT		0.468	PLCB4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000077948.2			19	75	0	0	0	1	0	19	75					T	9364983	C	T	9364983	3	4	259	1	0	0	0	0	1	0	0	0	12030	565	20	3	1031	3	PLCB4	20	9364983	Missense_Mutation	SNP	C	TCGA-HI-7169-01A-11D-2114-08		9364983	53660537	57	12209											
CTNNBL1	56259	broad.mit.edu	37	chr20	36488410	36488410	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gcacatctgctacatcatggCcgagatctgcaatgccaatg	11	9	9	12	1	3	1	1	0	2	1	3	2	3	1	2	1	4	3	2	1	3	1			TCGA-HI-7169-01A-11D-2114-08	TCGA-HI-7169-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1fc4226-40ce-43b7-b92e-aa7cecd0cf4d	263e1015-1061-4ad2-8f7e-ed430d2d9e80	g.chr20:36488410C>T	ENST00000361383.6	+	14	1619	c.1502C>T	c.(1501-1503)gCc>gTc	p.A501V	CTNNBL1_ENST00000473857.1_3'UTR|CTNNBL1_ENST00000373473.1_Missense_Mutation_p.A314V|CTNNBL1_ENST00000405275.2_Missense_Mutation_p.A474V|CTNNBL1_ENST00000373469.1_Missense_Mutation_p.A249V	NM_030877.3	NP_110517.2	Q8WYA6	CTBL1_HUMAN	catenin, beta like 1	501					apoptotic process (GO:0006915)|mRNA processing (GO:0006397)|positive regulation of apoptotic process (GO:0043065)|RNA splicing (GO:0008380)|somatic diversification of immunoglobulins (GO:0016445)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)|Prp19 complex (GO:0000974)|spliceosomal complex (GO:0005681)	enzyme binding (GO:0019899)			autonomic_ganglia(1)|breast(2)|endometrium(9)|large_intestine(6)|lung(6)|ovary(3)|urinary_tract(1)	28		Myeloproliferative disorder(115;0.00878)				TACATCATGGCCGAGATCTGC	0.587																																					Ovarian(184;582 2038 3273 4106 42608)	ENST00000405275.2																			0				autonomic_ganglia(1)|breast(2)|endometrium(9)|large_intestine(6)|lung(6)|ovary(3)|urinary_tract(1)	28						c.(1420-1422)gCc>gTc		catenin, beta like 1							63	57	59					20																	36488410		2203	4300	6503	SO:0001583	missense	56259				apoptosis|positive regulation of apoptosis|somatic diversification of immunoglobulins	nucleus	enzyme binding	g.chr20:36488410C>T	AL023804	CCDS13298.1	20q11.23-q12	2011-06-03	2002-05-27	2002-05-31	ENSG00000132792	ENSG00000132792			15879	protein-coding gene	gene with protein product	"nuclear associated protein"	611537	"chromosome 20 open reading frame 33"	C20orf33		12659813, 21385873	Standard	NM_030877		Approved	FLJ21108, P14L, P14, NAP, NYD-SP19	uc021wdj.1	Q8WYA6	OTTHUMG00000032428	ENST00000361383.6:c.1502C>T	20.37:g.36488410C>T	ENSP00000355050:p.Ala501Val					CTNNBL1_ENST00000473857.1_3'UTR|CTNNBL1_ENST00000373469.1_Missense_Mutation_p.A249V|CTNNBL1_ENST00000361383.6_Missense_Mutation_p.A501V|CTNNBL1_ENST00000373473.1_Missense_Mutation_p.A314V	p.A474V			Q8WYA6	CTBL1_HUMAN			15	1664	+		Myeloproliferative disorder(115;0.00878)	501					B4DE16|Q0VAL9|Q0VAM0|Q53HI8|Q5JWZ2|Q5JWZ3|Q5JWZ7|Q5JWZ8|Q8N454|Q8NCL2|Q8TBD6|Q96KD2|Q9H7A5|Q9NQF9|Q9NTX0|Q9Y3M7	Missense_Mutation	SNP	ENST00000361383.6	37	c.1421C>T	CCDS13298.1	.	.	.	.	.	.	.	.	.	.	C	14.66	2.600858	0.46423	.	.	ENSG00000132792	ENST00000361383;ENST00000405275;ENST00000373473;ENST00000373469	T;T;T;T	0.52526	0.66;0.66;0.74;0.75	5.52	5.52	0.82312	.	0.049826	0.85682	D	0.000000	T	0.34919	0.0914	N	0.20574	0.59	0.53005	D	0.999961	B;B	0.09022	0.002;0.0	B;B	0.08055	0.003;0.002	T	0.11792	-1.0573	10	0.17369	T	0.5	-12.6821	18.4484	0.90695	0.0:1.0:0.0:0.0	.	501;314	Q8WYA6;Q8WYA6-2	CTBL1_HUMAN;.	V	501;474;314;249	ENSP00000355050:A501V;ENSP00000384355:A474V;ENSP00000362572:A314V;ENSP00000362568:A249V	ENSP00000355050:A501V	A	+	2	0	CTNNBL1	35921824	1.000000	0.71417	0.963000	0.40424	0.989000	0.77384	5.706000	0.68362	2.590000	0.87494	0.655000	0.94253	GCC		0.587	CTNNBL1-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079125.1	NM_030877		13	46	0	0	0	1	0	13	46					T	36488410	C	T	36488410	3	4	259	1	0	0	0	0	1	0	0	0	4018	739	26	3	1556	3	CTNNBL1	20	36488410	Missense_Mutation	SNP	C	TCGA-HI-7169-01A-11D-2114-08	27123427	36488410	26537110	58	12210											
CELSR1	9620	broad.mit.edu	37	chr22	46760120	46760120	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccgtcagcgtcagcggcggCgggtaggtgactttattttt	5	13	14	9	5	2	1	2	1	0	0	3	1	3	1	1	4	2	1	1	4	2	5			TCGA-HI-7169-01A-11D-2114-08	TCGA-HI-7169-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1fc4226-40ce-43b7-b92e-aa7cecd0cf4d	263e1015-1061-4ad2-8f7e-ed430d2d9e80	g.chr22:46760120C>T	ENST00000262738.3	-	34	8807	c.8808G>A	c.(8806-8808)ccG>ccA	p.P2936P		NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	2936					anterior/posterior pattern specification (GO:0009952)|apical protein localization (GO:0045176)|central nervous system development (GO:0007417)|establishment of body hair planar orientation (GO:0048105)|establishment of planar polarity (GO:0001736)|establishment of planar polarity of embryonic epithelium (GO:0042249)|G-protein coupled receptor signaling pathway (GO:0007186)|hair follicle development (GO:0001942)|homophilic cell adhesion (GO:0007156)|inner ear morphogenesis (GO:0042472)|lateral sprouting involved in lung morphogenesis (GO:0060490)|locomotory behavior (GO:0007626)|neural tube closure (GO:0001843)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|orthogonal dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060488)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|planar dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060489)|protein localization involved in establishment of planar polarity (GO:0090251)|regulation of actin cytoskeleton organization (GO:0032956)|Rho protein signal transduction (GO:0007266)|wound healing (GO:0042060)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)|protein dimerization activity (GO:0046983)|transmembrane signaling receptor activity (GO:0004888)			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		TCAGCGGCGGCGGGTAGGTGA	0.657																																						ENST00000262738.3																			0				breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95						c.(8806-8808)ccG>ccA		cadherin, EGF LAG seven-pass G-type receptor 1							38	47	44					22																	46760120		2200	4297	6497	SO:0001819	synonymous_variant	9620				central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein dimerization activity	g.chr22:46760120C>T	AF231024	CCDS14076.1	22q13.31	2014-08-08	2013-02-18		ENSG00000075275	ENSG00000075275		"Cadherins / Major cadherins", "-", "GPCR / Class B : Orphans"	1850	protein-coding gene	gene with protein product	"flamingo homolog 2 (Drosophila)"	604523	"cadherin, EGF LAG seven-pass G-type receptor 1, flamingo (Drosophila) homolog"			9339365	Standard	XM_006724383		Approved	ME2, HFMI2, FMI2, CDHF9	uc003bhw.1	Q9NYQ6	OTTHUMG00000150423	ENST00000262738.3:c.8808G>A	22.37:g.46760120C>T							p.P2936P	NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)	34	8807	-		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)	2936					O95722|Q5TH47|Q9BWQ5|Q9Y506|Q9Y526	Silent	SNP	ENST00000262738.3	37	c.8808G>A	CCDS14076.1																																																																																				0.657	CELSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318037.1	NM_014246		7	91	0	0	0	1	0	7	91					T	46760120	C	T	46760120	2	4	259	1	0	0	0	0	0	0	0	1	3221	755	27	1		1	CELSR1	22	46760120	Silent	SNP	C	TCGA-HI-7169-01A-11D-2114-08		46760120	4544446	59	12211											
FAM47C	442444	broad.mit.edu	37	chrX	37028425	37028425	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtctccgcccggagcctcccAatactggagtgtcccatctc	6	9	9	17	2	2	0	0	0	2	0	6	2	4	2	5	2	2	0	5	2	2	1	rs145580328		TCGA-HI-7169-01A-11D-2114-08	TCGA-HI-7169-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1fc4226-40ce-43b7-b92e-aa7cecd0cf4d	263e1015-1061-4ad2-8f7e-ed430d2d9e80	g.chrX:37028425A>G	ENST00000358047.3	+	1	1994	c.1942A>G	c.(1942-1944)Aat>Gat	p.N648D		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	648								p.N648D(7)		breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						GGAGCCTCCCAATACTGGAGT	0.642																																						ENST00000358047.3																			7	Substitution - Missense(7)	p.N648D(7)	urinary_tract(2)|prostate(2)|lung(2)|skin(1)	breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						c.(1942-1944)Aat>Gat		family with sequence similarity 47, member C							51	56	55					X																	37028425		2201	4299	6500	SO:0001583	missense	442444							g.chrX:37028425A>G	AK125992	CCDS35227.1	Xp21.1	2006-07-04			ENSG00000198173	ENSG00000198173			25301	protein-coding gene	gene with protein product							Standard	NM_001013736		Approved		uc004ddl.2	Q5HY64	OTTHUMG00000024025	ENST00000358047.3:c.1942A>G	X.37:g.37028425A>G	ENSP00000367913:p.Asn648Asp						p.N648D	NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN			1	1994	+			648					Q6ZU46	Missense_Mutation	SNP	ENST00000358047.3	37	c.1942A>G	CCDS35227.1	.	.	.	.	.	.	.	.	.	.	-	3.343	-0.134139	0.06711	.	.	ENSG00000198173	ENST00000358047	T	0.13196	2.61	1.61	-3.22	0.05125	.	.	.	.	.	T	0.04543	0.0124	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.38993	-0.9635	9	0.20519	T	0.43	.	0.6811	0.00875	0.2356:0.2078:0.3498:0.2069	.	648	Q5HY64	FA47C_HUMAN	D	648	ENSP00000367913:N648D	ENSP00000367913:N648D	N	+	1	0	FAM47C	36938346	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.937000	0.01547	-1.437000	0.01967	-1.178000	0.01721	AAT		0.642	FAM47C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060508.1	NM_001013736		4	70	0	0	0	1	0	4	70					G	37028425	A	G	37028425	3	3	259	1	0	0	0	0	1	0	0	0	5571	130	5	4	1944	4	FAM47C	23	37028425	Missense_Mutation	SNP	A	TCGA-HI-7169-01A-11D-2114-08		37028425	118242135	60	12212											
PGAM4	441531	broad.mit.edu	37	chrX	77225016	77225016	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctcgtagcgcctgcccgccGcgcttcgcctcctcgtggcc	1	9	11	20	7	1	0	0	0	1	0	5	0	2	0	6	1	2	2	6	1	1	2			TCGA-HI-7169-01A-11D-2114-08	TCGA-HI-7169-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1fc4226-40ce-43b7-b92e-aa7cecd0cf4d	263e1015-1061-4ad2-8f7e-ed430d2d9e80	g.chrX:77225016G>A	ENST00000458128.1	-	1	119	c.120C>T	c.(118-120)cgC>cgT	p.R40R	ATP7A_ENST00000343533.5_Intron|ATP7A_ENST00000341514.6_Intron|ATP7A_ENST00000350425.4_Intron	NM_001029891.2	NP_001025062.1	Q8N0Y7	PGAM4_HUMAN	phosphoglycerate mutase family member 4	40			R -> C. {ECO:0000269|PubMed:11961099}.		glycolytic process (GO:0006096)|positive regulation of sperm motility (GO:1902093)	extracellular vesicular exosome (GO:0070062)|sperm principal piece (GO:0097228)	bisphosphoglycerate 2-phosphatase activity (GO:0004083)|bisphosphoglycerate mutase activity (GO:0004082)|phosphoglycerate mutase activity (GO:0004619)			endometrium(2)|lung(4)	6						CCTGCCCGCCGCGCTTCGCCT	0.627																																						ENST00000458128.1																			0				endometrium(2)|lung(4)	6						c.(118-120)cgC>cgT		phosphoglycerate mutase family member 4							58	60	59					X																	77225016		2202	4291	6493	SO:0001819	synonymous_variant	441531				glycolysis		2,3-bisphospho-D-glycerate 2-phosphohydrolase activity|bisphosphoglycerate mutase activity|phosphoglycerate mutase activity	g.chrX:77225016G>A	AF465731	CCDS35338.1	Xq21.1	2011-02-09	2006-02-09		ENSG00000226784	ENSG00000226784			21731	protein-coding gene	gene with protein product		300567	"phosphoglycerate mutase family 4"			11961099, 9370262	Standard	NM_001029891		Approved	dJ1000K24.1, PGAM3, PGAM-B, PGAM1	uc004ecy.1	Q8N0Y7	OTTHUMG00000057865	ENST00000458128.1:c.120C>T	X.37:g.77225016G>A						ATP7A_ENST00000343533.5_Intron|ATP7A_ENST00000350425.4_Intron|ATP7A_ENST00000341514.6_Intron	p.R40R	NM_001029891.2	NP_001025062.1	Q8N0Y7	PGAM4_HUMAN			1	119	-			40		R -> C.			Q5JPN2|Q8NI24|Q8NI25|Q8NI26	Silent	SNP	ENST00000458128.1	37	c.120C>T	CCDS35338.1																																																																																				0.627	PGAM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128371.2	NM_001029891		7	79	0	0	0	1	0	7	79					A	77225016	G	A	77225016	2	1	259	1	0	0	0	0	0	0	0	1	11775	1074	38	1		1	PGAM4	23	77225016	Silent	SNP	G	TCGA-HI-7169-01A-11D-2114-08	40196591	77225016	78045544	61	12213											
DCAF12L2	340578	broad.mit.edu	37	chrX	125298898	125298898	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggggccggatgttctgctggCgctggcgcggatccaggaag	5	7	19	10	4	1	0	0	0	1	0	2	3	2	3	2	7	1	3	2	7	1	1			TCGA-HI-7169-01A-11D-2114-08	TCGA-HI-7169-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1fc4226-40ce-43b7-b92e-aa7cecd0cf4d	263e1015-1061-4ad2-8f7e-ed430d2d9e80	g.chrX:125298898C>T	ENST00000360028.2	-	1	1036	c.1010G>A	c.(1009-1011)cGc>cAc	p.R337H	DCAF12L2_ENST00000538699.1_Missense_Mutation_p.R337H			Q5VW00	DC122_HUMAN	DDB1 and CUL4 associated factor 12-like 2	337										NS(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(36)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(3)	64						GTTCTGCTGGCGCTGGCGCGG	0.622																																						ENST00000538699.1																			0				NS(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(36)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(3)	64						c.(1009-1011)cGc>cAc		DDB1 and CUL4 associated factor 12-like 2							55	59	57					X																	125298898		2203	4300	6503	SO:0001583	missense	340578							g.chrX:125298898C>T	AL445072	CCDS43991.1	Xq25	2013-01-09	2009-07-17	2009-07-17	ENSG00000198354	ENSG00000198354		"WD repeat domain containing"	32950	protein-coding gene	gene with protein product			"WD repeat domain 40C"	WDR40C			Standard	NM_001013628		Approved		uc004euk.2	Q5VW00	OTTHUMG00000022348	ENST00000360028.2:c.1010G>A	X.37:g.125298898C>T	ENSP00000353128:p.Arg337His					DCAF12L2_ENST00000360028.2_Missense_Mutation_p.R337H	p.R337H	NM_001013628.2	NP_001013650.1	Q5VW00	DC122_HUMAN			2	1090	-			337					B2RN42	Missense_Mutation	SNP	ENST00000360028.2	37	c.1010G>A	CCDS43991.1	.	.	.	.	.	.	.	.	.	.	C	7.417	0.635902	0.14386	.	.	ENSG00000198354	ENST00000538699;ENST00000360028	T;T	0.63580	-0.05;-0.05	4.05	2.22	0.28083	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.964031	0.08457	N	0.943000	T	0.44371	0.1290	L	0.29908	0.895	0.29364	N	0.864442	D	0.54772	0.968	B	0.38327	0.271	T	0.38286	-0.9668	10	0.40728	T	0.16	.	5.4353	0.16478	0.0:0.4876:0.3958:0.1165	.	337	Q5VW00	DC122_HUMAN	H	337	ENSP00000441489:R337H;ENSP00000353128:R337H	ENSP00000353128:R337H	R	-	2	0	DCAF12L2	125126579	0.005000	0.15991	0.248000	0.24265	0.814000	0.46013	0.315000	0.19451	0.458000	0.26988	0.544000	0.68410	CGC		0.622	DCAF12L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058181.1	NM_001013628		32	11	0	0	0	1	0	32	11					T	125298898	C	T	125298898	3	4	259	1	0	0	0	0	1	0	0	0	4265	768	27	1	385	1	DCAF12L2	23	125298898	Missense_Mutation	SNP	C	TCGA-HI-7169-01A-11D-2114-08	48073882	125298898	29971662	62	12214											
RERE	473	broad.mit.edu	37	chr1	8418694	8418694	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccgctcccggagctcccgctCgcggatggtggggtcgacgt	3	7	16	15	7	0	0	0	0	0	0	4	3	2	2	3	5	1	3	3	5	0	0			TCGA-HI-7170-01A-11D-2114-08	TCGA-HI-7170-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10812a81-93f3-4eb6-967f-b415d2263f0e	473c4d37-6639-45f0-a67a-8e34049d0b29	g.chr1:8418694C>T	ENST00000337907.3	-	21	4535	c.3901G>A	c.(3901-3903)Gag>Aag	p.E1301K	RERE_ENST00000400907.2_Intron|RERE_ENST00000476556.1_Missense_Mutation_p.E747K|RERE_ENST00000377464.1_Missense_Mutation_p.E1033K|RERE_ENST00000400908.2_Missense_Mutation_p.E1301K	NM_012102.3	NP_036234.3	Q9P2R6	RERE_HUMAN	arginine-glutamic acid dipeptide (RE) repeats	1301	Arg/Glu-rich (mixed charge).				chromatin remodeling (GO:0006338)|multicellular organismal development (GO:0007275)|NLS-bearing protein import into nucleus (GO:0006607)|transcription, DNA-templated (GO:0006351)	histone deacetylase complex (GO:0000118)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|poly-glutamine tract binding (GO:0008267)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)		AGCTCCCGCTCGCGGATGGTG	0.667																																						ENST00000337907.3																			0				central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						c.(3901-3903)Gag>Aag		arginine-glutamic acid dipeptide (RE) repeats							27	33	31					1																	8418694		2201	4297	6498	SO:0001583	missense	473				multicellular organismal development|NLS-bearing substrate import into nucleus	mitochondrion	poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr1:8418694C>T	AF016005	CCDS95.1, CCDS41243.1	1p36.23	2013-01-25			ENSG00000142599	ENSG00000142599		"GATA zinc finger domain containing"	9965	protein-coding gene	gene with protein product		605226		ATN1L		10814707, 10729226	Standard	NM_012102		Approved	KIAA0458, ARP, ARG, DNB1	uc001apf.3	Q9P2R6	OTTHUMG00000001765	ENST00000337907.3:c.3901G>A	1.37:g.8418694C>T	ENSP00000338629:p.Glu1301Lys					RERE_ENST00000400908.2_Missense_Mutation_p.E1301K|RERE_ENST00000400907.2_Intron|RERE_ENST00000377464.1_Missense_Mutation_p.E1033K|RERE_ENST00000476556.1_Missense_Mutation_p.E747K	p.E1301K	NM_012102.3	NP_036234.3	Q9P2R6	RERE_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)	21	4535	-	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)	1301			Arg/Glu-rich (mixed charge).		O43393|O75046|O75359|Q5VXL9|Q6P6B9|Q9Y2W4	Missense_Mutation	SNP	ENST00000337907.3	37	c.3901G>A	CCDS95.1	.	.	.	.	.	.	.	.	.	.	C	31	5.088524	0.94100	.	.	ENSG00000142599	ENST00000337907;ENST00000377464;ENST00000476556;ENST00000400908	T;T;T;T	0.56444	0.46;0.46;0.46;0.46	5.91	4.97	0.65823	.	.	.	.	.	T	0.71434	0.3339	M	0.74881	2.28	0.58432	D	0.999999	D	0.89917	1.0	D	0.87578	0.998	T	0.68957	-0.5272	9	0.34782	T	0.22	-21.2403	16.2927	0.82758	0.0:0.8684:0.1316:0.0	.	1301	Q9P2R6	RERE_HUMAN	K	1301;1033;747;1301	ENSP00000338629:E1301K;ENSP00000366684:E1033K;ENSP00000422246:E747K;ENSP00000383700:E1301K	ENSP00000338629:E1301K	E	-	1	0	RERE	8341281	1.000000	0.71417	0.932000	0.37286	0.939000	0.58152	5.700000	0.68318	2.793000	0.96121	0.655000	0.94253	GAG		0.667	RERE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004916.1			3	29	0	0	0	0.150653	0	3	29					T	8418694	C	T	8418694	3	4	260	1	0	0	0	0	1	0	0	0	13231	893	31	2	815	2	RERE	1	8418694	Missense_Mutation	SNP	C	TCGA-HI-7170-01A-11D-2114-08		8418694	240831927	1	12215											
DNAJC16	23341	broad.mit.edu	37	chr1	15892459	15892459	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctgatcttctctgccctcttCatcctcttcggcactgtcat	4	16	5	16	1	6	1	2	1	4	0	9	1	7	1	2	1	1	1	2	1	0	3			TCGA-HI-7170-01A-11D-2114-08	TCGA-HI-7170-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10812a81-93f3-4eb6-967f-b415d2263f0e	473c4d37-6639-45f0-a67a-8e34049d0b29	g.chr1:15892459C>G	ENST00000375847.3	+	12	1808	c.1644C>G	c.(1642-1644)ttC>ttG	p.F548L	RP4-680D5.8_ENST00000606186.1_RNA|DNAJC16_ENST00000483270.1_3'UTR|DNAJC16_ENST00000375838.1_Missense_Mutation_p.F548L|DNAJC16_ENST00000375849.1_Missense_Mutation_p.F548L	NM_015291.2	NP_056106.1	Q9Y2G8	DJC16_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 16	548					cell redox homeostasis (GO:0045454)	integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(7)|urinary_tract(1)	18		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00173)|all_lung(284;0.00459)|Lung NSC(340;0.00499)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.18e-07)|COAD - Colon adenocarcinoma(227;4.5e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00774)|READ - Rectum adenocarcinoma(331;0.0657)		CTGCCCTCTTCATCCTCTTCG	0.443																																						ENST00000375847.3																			0				central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(7)|urinary_tract(1)	18						c.(1642-1644)ttC>ttG		DnaJ (Hsp40) homolog, subfamily C, member 16							351	366	361					1																	15892459		2203	4300	6503	SO:0001583	missense	23341				cell redox homeostasis|protein folding	integral to membrane	heat shock protein binding|unfolded protein binding	g.chr1:15892459C>G	AB023179	CCDS30606.1, CCDS72710.1	1p36.1	2011-09-02			ENSG00000116138	ENSG00000116138		"Heat shock proteins / DNAJ (HSP40)"	29157	protein-coding gene	gene with protein product							Standard	NM_015291		Approved	KIAA0962	uc001aws.3	Q9Y2G8	OTTHUMG00000002358	ENST00000375847.3:c.1644C>G	1.37:g.15892459C>G	ENSP00000365007:p.Phe548Leu					DNAJC16_ENST00000375838.1_Missense_Mutation_p.F548L|DNAJC16_ENST00000483270.1_3'UTR|DNAJC16_ENST00000375849.1_Missense_Mutation_p.F548L	p.F548L	NM_015291.2	NP_056106.1	Q9Y2G8	DJC16_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.18e-07)|COAD - Colon adenocarcinoma(227;4.5e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00774)|READ - Rectum adenocarcinoma(331;0.0657)	12	1808	+		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00173)|all_lung(284;0.00459)|Lung NSC(340;0.00499)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)	548					Q68D57|Q86X32|Q8N5P4	Missense_Mutation	SNP	ENST00000375847.3	37	c.1644C>G	CCDS30606.1	.	.	.	.	.	.	.	.	.	.	C	23.8	4.460830	0.84317	.	.	ENSG00000116138	ENST00000375847;ENST00000375838;ENST00000375849;ENST00000546230	T;T;T	0.70282	-0.46;-0.47;-0.39	5.94	5.94	0.96194	.	0.000000	0.85682	D	0.000000	T	0.81240	0.4781	M	0.70275	2.135	0.30461	N	0.774276	D;D	0.71674	0.997;0.998	D;D	0.77004	0.985;0.989	T	0.78137	-0.2321	10	0.29301	T	0.29	-29.7108	12.2689	0.54695	0.0:0.9225:0.0:0.0775	.	548;548	Q9Y2G8;Q5TDG9	DJC16_HUMAN;.	L	548	ENSP00000365007:F548L;ENSP00000364998:F548L;ENSP00000365009:F548L	ENSP00000364998:F548L	F	+	3	2	DNAJC16	15765046	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	3.561000	0.53770	2.816000	0.96949	0.563000	0.77884	TTC		0.443	DNAJC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006764.1	NM_015291		74	258	0	0	0	0.870114	0	74	258					G	15892459	C	G	15892459	3	3	260	1	0	0	0	0	1	0	0	0	4635	825	29	5	1686	5	DNAJC16	1	15892459	Missense_Mutation	SNP	C	TCGA-HI-7170-01A-11D-2114-08	7473765	15892459	233358162	2	12216											
EIF2B3	8891	broad.mit.edu	37	chr1	45407181	45407182	+	Frame_Shift_Ins	INS	-	-	T																															ctccaatcttccttacctgcINStttttttttccccttttgac																								rs148977100		TCGA-HI-7170-01A-11D-2114-08	TCGA-HI-7170-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10812a81-93f3-4eb6-967f-b415d2263f0e	473c4d37-6639-45f0-a67a-8e34049d0b29	g.chr1:45407181_45407182insT	ENST00000360403.2	-	4	576_577	c.450_451insA	c.(448-453)aaagcafs	p.A151fs	EIF2B3_ENST00000372183.3_Frame_Shift_Ins_p.A151fs|EIF2B3_ENST00000480675.1_5'UTR	NM_001261418.1|NM_020365.4	NP_001248347.1|NP_065098.1	Q9NR50	EI2BG_HUMAN	eukaryotic translation initiation factor 2B, subunit 3 gamma, 58kDa	151					cellular protein metabolic process (GO:0044267)|cellular response to stimulus (GO:0051716)|gene expression (GO:0010467)|negative regulation of translational initiation in response to stress (GO:0032057)|oligodendrocyte development (GO:0014003)|positive regulation of GTPase activity (GO:0043547)|response to glucose (GO:0009749)|response to heat (GO:0009408)|response to peptide hormone (GO:0043434)|translation (GO:0006412)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|eukaryotic translation initiation factor 2B complex (GO:0005851)	guanyl-nucleotide exchange factor activity (GO:0005085)|nucleotidyltransferase activity (GO:0016779)|translation initiation factor activity (GO:0003743)			endometrium(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)	17	Acute lymphoblastic leukemia(166;0.155)					TCCTTACCTGCTTTTTTTTTCC	0.356																																					Colon(26;357 658 2581 11857 12657)	ENST00000360403.2																			0				endometrium(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)	17						c.(448-453)aacagtfs		eukaryotic translation initiation factor 2B, subunit 3 gamma, 58kDa																																				SO:0001589	frameshift_variant	8891				negative regulation of translational initiation in response to stress|oligodendrocyte development|response to glucose stimulus|response to heat|response to peptide hormone stimulus	cytosol|eukaryotic translation initiation factor 2B complex	nucleotidyltransferase activity|protein binding|translation initiation factor activity	g.chr1:45407181_45407182insT	AF257077	CCDS517.1, CCDS53313.1, CCDS72775.1	1p34.1	2008-02-05	2002-08-29		ENSG00000070785	ENSG00000070785			3259	protein-coding gene	gene with protein product		606273	"eukaryotic translation initiation factor 2B, subunit 3 (gamma, 58kD)"			10900014	Standard	NM_020365		Approved	EIF2Bgamma, EIF-2B	uc001cmt.3	Q9NR50	OTTHUMG00000008585	ENST00000360403.2:c.451dupA	1.37:g.45407190_45407190dupT	ENSP00000353575:p.Ala151fs					EIF2B3_ENST00000480675.1_5'UTR|EIF2B3_ENST00000372183.3_Frame_Shift_Ins_p.NS150fs	p.NS150fs	NM_001261418.1|NM_020365.4	NP_001248347.1|NP_065098.1	Q9NR50	EI2BG_HUMAN			4	576_577	-	Acute lymphoblastic leukemia(166;0.155)		150					B2RBH8|D3DPZ2|Q5QP89|Q5QP90|Q8NDB5|Q8WV57|Q9H850	Frame_Shift_Ins	INS	ENST00000360403.2	37	c.450_451insA	CCDS517.1																																																																																				0.356	EIF2B3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023724.1	NM_020365		7	109						7	109	---	---	---	---	T	45407182	-	T	45407181	7	5	260	1	0	1	1	0	0	0	0	0	5002	797	28	0	980	0	EIF2B3	1	45407181	Frame_Shift_Ins	INS	-	TCGA-HI-7170-01A-11D-2114-08	29514722	45407181	203843440	3	12217											
MERTK	10461	broad.mit.edu	37	chr2	112702569	112702569	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagcgttcagacaatgggtCgtatatctgtaagatgaaaa	14	10	11	6	2	2	3	1	1	1	2	3	3	2	3	0	1	1	4	0	1	6	4	rs143570667		TCGA-HI-7170-01A-11D-2114-08	TCGA-HI-7170-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10812a81-93f3-4eb6-967f-b415d2263f0e	473c4d37-6639-45f0-a67a-8e34049d0b29	g.chr2:112702569C>A	ENST00000295408.4	+	3	772	c.515C>A	c.(514-516)tCg>tAg	p.S172*	MERTK_ENST00000421804.2_Nonsense_Mutation_p.S172*|MERTK_ENST00000409780.1_5'UTR			Q12866	MERTK_HUMAN	MER proto-oncogene, tyrosine kinase	172	Ig-like C2-type 1.				apoptotic cell clearance (GO:0043277)|blood coagulation (GO:0007596)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|leukocyte migration (GO:0050900)|natural killer cell differentiation (GO:0001779)|negative regulation of lymphocyte activation (GO:0051250)|peptidyl-tyrosine phosphorylation (GO:0018108)|phagocytosis (GO:0006909)|platelet activation (GO:0030168)|positive regulation of phagocytosis (GO:0050766)|protein kinase B signaling (GO:0043491)|protein phosphorylation (GO:0006468)|retina development in camera-type eye (GO:0060041)|secretion by cell (GO:0032940)|spermatogenesis (GO:0007283)|substrate adhesion-dependent cell spreading (GO:0034446)|vagina development (GO:0060068)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|rhabdomere (GO:0016028)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(10)	46						GACAATGGGTCGTATATCTGT	0.408																																						ENST00000295408.4																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(10)	46						c.(514-516)tCg>tAg		c-mer proto-oncogene tyrosine kinase							148	137	141					2																	112702569		2203	4300	6503	SO:0001587	stop_gained	10461				cell surface receptor linked signaling pathway|cell-cell signaling|leukocyte migration	integral to plasma membrane|soluble fraction	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr2:112702569C>A	U08023	CCDS2094.1	2q14.1	2014-06-26	2014-06-26		ENSG00000153208	ENSG00000153208		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	7027	protein-coding gene	gene with protein product		604705	"c-mer proto-oncogene tyrosine kinase"			8086340, 10343112	Standard	XM_005263565		Approved	mer, RP38	uc002thk.1	Q12866	OTTHUMG00000131278	ENST00000295408.4:c.515C>A	2.37:g.112702569C>A	ENSP00000295408:p.Ser172*					MERTK_ENST00000421804.2_Nonsense_Mutation_p.S172*|MERTK_ENST00000409780.1_5'UTR	p.S172*			Q12866	MERTK_HUMAN			3	772	+			172			Ig-like C2-type 1.		Q9HBB4	Nonsense_Mutation	SNP	ENST00000295408.4	37	c.515C>A	CCDS2094.1	.	.	.	.	.	.	.	.	.	.	C	39	7.403335	0.98262	.	.	ENSG00000153208	ENST00000295408;ENST00000421804	.	.	.	5.68	5.68	0.88126	.	0.000000	0.30134	U	0.010322	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05525	T	0.97	-12.9782	19.3877	0.94564	0.0:1.0:0.0:0.0	.	.	.	.	X	172	.	ENSP00000295408:S172X	S	+	2	0	MERTK	112419040	0.294000	0.24380	0.044000	0.18714	0.959000	0.62525	2.781000	0.47750	2.670000	0.90874	0.655000	0.94253	TCG		0.408	MERTK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254046.2			15	51	1	0	6.44725e-10	0.624587	7.98231e-10	15	51					A	112702569	C	A	112702569	4	1	260	1	0	0	0	0	0	1	0	0	9479	893	31	5	525	5	MERTK	2	112702569	Nonsense_Mutation	SNP	C	TCGA-HI-7170-01A-11D-2114-08		112702569	130496804	4	12218											
NUP210	23225	broad.mit.edu	37	chr3	13438886	13438886	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagggcctggatcttcagcTccaggggggagtcctccagg	6	7	15	13	0	2	0	1	0	1	0	5	2	5	2	5	6	1	1	5	6	0	1			TCGA-HI-7170-01A-11D-2114-08	TCGA-HI-7170-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10812a81-93f3-4eb6-967f-b415d2263f0e	473c4d37-6639-45f0-a67a-8e34049d0b29	g.chr3:13438886T>C	ENST00000254508.5	-	3	489	c.407A>G	c.(406-408)gAg>gGg	p.E136G		NM_024923.2	NP_079199.2	Q8TEM1	PO210_HUMAN	nucleoporin 210kDa	136					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)				NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	66	all_neural(104;0.187)					GATCTTCAGCTCCAGGGGGGA	0.602																																						ENST00000254508.5																			0				NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	66						c.(406-408)gAg>gGg		nucleoporin 210kDa							68	63	65					3																	13438886		2203	4300	6503	SO:0001583	missense	23225				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore		g.chr3:13438886T>C	AB020713	CCDS33704.1	3p25	2008-02-05			ENSG00000132182	ENSG00000132182			30052	protein-coding gene	gene with protein product		607703				2184032, 7504063	Standard	NM_024923		Approved	GP210, POM210, FLJ22389, KIAA0906	uc003bxv.1	Q8TEM1	OTTHUMG00000157268	ENST00000254508.5:c.407A>G	3.37:g.13438886T>C	ENSP00000254508:p.Glu136Gly						p.E136G	NM_024923.2	NP_079199.2	Q8TEM1	PO210_HUMAN			3	489	-	all_neural(104;0.187)		136					A6NN56|O94980|Q6NXG6|Q8NBJ1|Q9H6C8|Q9UFP3	Missense_Mutation	SNP	ENST00000254508.5	37	c.407A>G	CCDS33704.1	.	.	.	.	.	.	.	.	.	.	T	18.10	3.548765	0.65311	.	.	ENSG00000132182	ENST00000254508	T	0.05925	3.37	3.96	3.96	0.45880	.	0.106321	0.64402	N	0.000006	T	0.10165	0.0249	L	0.48642	1.525	0.46823	D	0.999215	P	0.49783	0.928	P	0.47603	0.551	T	0.03630	-1.1018	10	0.66056	D	0.02	-0.385	12.309	0.54918	0.0:0.0:0.0:1.0	.	136	Q8TEM1	PO210_HUMAN	G	136	ENSP00000254508:E136G	ENSP00000254508:E136G	E	-	2	0	NUP210	13413886	1.000000	0.71417	1.000000	0.80357	0.731000	0.41821	3.528000	0.53524	1.812000	0.52913	0.454000	0.30748	GAG		0.602	NUP210-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340085.1	NM_024923		19	41	0	0	0	0.608945	0	19	41					C	13438886	T	C	13438886	3	2	260	1	0	0	0	0	1	0	0	0	10760	1551	54	4	5408	4	NUP210	3	13438886	Missense_Mutation	SNP	T	TCGA-HI-7170-01A-11D-2114-08		13438886	184583544	5	12219											
COL7A1	1294	broad.mit.edu	37	chr3	48623134	48623134	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gacactcaccgggaggccagGgtcgccaggaggcccaactt	9	4	14	14	2	1	0	1	0	0	0	2	3	1	2	4	5	1	0	4	5	1	1			TCGA-HI-7170-01A-11D-2114-08	TCGA-HI-7170-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10812a81-93f3-4eb6-967f-b415d2263f0e	473c4d37-6639-45f0-a67a-8e34049d0b29	g.chr3:48623134G>T	ENST00000328333.8	-	30	3927	c.3820C>A	c.(3820-3822)Cct>Act	p.P1274T	COL7A1_ENST00000454817.1_Missense_Mutation_p.P1274T	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	1274	Interrupted collagenous region.|Triple-helical region.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|collagen type VII trimer (GO:0005590)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	serine-type endopeptidase inhibitor activity (GO:0004867)			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		GGGAGGCCAGGGTCGCCAGGA	0.607																																						ENST00000328333.8																			0				NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137						c.(3820-3822)Cct>Act		collagen, type VII, alpha 1							121	137	131					3																	48623134		2203	4300	6503	SO:0001583	missense	1294				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity	g.chr3:48623134G>T	L02870	CCDS2773.1	3p21.1	2014-09-17	2008-08-01		ENSG00000114270	ENSG00000114270		"Collagens", "Fibronectin type III domain containing"	2214	protein-coding gene	gene with protein product	"collagen VII, alpha-1 polypeptide", "LC collagen"	120120	"epidermolysis bullosa, dystrophic, dominant and recessive"	EBDCT, EBD1, EBR1		1871109	Standard	NM_000094		Approved		uc003ctz.2	Q02388	OTTHUMG00000133541	ENST00000328333.8:c.3820C>A	3.37:g.48623134G>T	ENSP00000332371:p.Pro1274Thr					COL7A1_ENST00000454817.1_Missense_Mutation_p.P1274T	p.P1274T	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)	30	3927	-			1274			Interrupted collagenous region.|Triple-helical region.		Q14054|Q16507	Missense_Mutation	SNP	ENST00000328333.8	37	c.3820C>A	CCDS2773.1	.	.	.	.	.	.	.	.	.	.	G	7.872	0.728292	0.15507	.	.	ENSG00000114270	ENST00000328333;ENST00000454817	D;D	0.97710	-4.5;-4.5	5.57	4.7	0.59300	.	0.150548	0.30501	N	0.009494	D	0.98040	0.9354	M	0.71206	2.165	0.38153	D	0.93879	D	0.65815	0.995	P	0.62491	0.903	D	0.99243	1.0885	10	0.49607	T	0.09	.	12.6982	0.57016	0.0761:0.0:0.9239:0.0	.	1274	Q02388	CO7A1_HUMAN	T	1274	ENSP00000332371:P1274T;ENSP00000412569:P1274T	ENSP00000332371:P1274T	P	-	1	0	COL7A1	48598138	1.000000	0.71417	0.435000	0.26784	0.604000	0.37047	2.664000	0.46783	1.363000	0.46019	0.563000	0.77884	CCT		0.607	COL7A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257519.1	NM_000094		53	123	1	0	3.56336e-21	0.870114	4.63237e-21	53	123					T	48623134	G	T	48623134	3	4	260	1	0	0	0	0	1	0	0	0	3704	1232	43	5	5370	5	COL7A1	3	48623134	Missense_Mutation	SNP	G	TCGA-HI-7170-01A-11D-2114-08	35184248	48623134	149399296	6	12220											
RASSF1	11186	broad.mit.edu	37	chr3	50369518	50369518	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgctgttgatctgggcattgTactccttgatcttctgctca	5	17	9	10	0	4	2	1	2	3	0	5	2	5	2	1	1	3	5	1	1	1	5			TCGA-HI-7170-01A-11D-2114-08	TCGA-HI-7170-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10812a81-93f3-4eb6-967f-b415d2263f0e	473c4d37-6639-45f0-a67a-8e34049d0b29	g.chr3:50369518T>C	ENST00000357043.2	-	3	472	c.437A>G	c.(436-438)tAc>tGc	p.Y146C	RASSF1_ENST00000327761.3_Missense_Mutation_p.Y72C|RASSF1_ENST00000395126.3_5'UTR|RASSF1_ENST00000359365.4_Missense_Mutation_p.Y142C					Ras association (RalGDS/AF-6) domain family member 1											lung(2)|ovary(1)|skin(1)|urinary_tract(1)	5				BRCA - Breast invasive adenocarcinoma(193;0.000278)|OV - Ovarian serous cystadenocarcinoma(275;0.0015)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		CTGGGCATTGTACTCCTTGAT	0.557																																						ENST00000359365.4																			0				lung(2)|ovary(1)|skin(1)|urinary_tract(1)	5						c.(424-426)tAc>tGc		Ras association (RalGDS/AF-6) domain family member 1							147	121	130					3																	50369518		2203	4300	6503	SO:0001583	missense	11186				cell cycle arrest|negative regulation of cell cycle arrest|positive regulation of protein ubiquitination|protein stabilization|Ras protein signal transduction|response to DNA damage stimulus	microtubule|microtubule cytoskeleton|microtubule organizing center|nucleus|spindle pole	identical protein binding|protein binding|protein N-terminus binding|zinc ion binding	g.chr3:50369518T>C	AF132675	CCDS2820.1, CCDS2821.1, CCDS2822.1, CCDS43096.1	3p21.3	2008-02-22	2008-02-22		ENSG00000068028	ENSG00000068028			9882	protein-coding gene	gene with protein product		605082					Standard	NM_170713		Approved	NORE2A, REH3P21, RDA32, 123F2	uc003dad.1	Q9NS23	OTTHUMG00000149958	ENST00000357043.2:c.437A>G	3.37:g.50369518T>C	ENSP00000349547:p.Tyr146Cys					RASSF1_ENST00000357043.2_Missense_Mutation_p.Y146C|RASSF1_ENST00000327761.3_Missense_Mutation_p.Y72C|RASSF1_ENST00000395126.3_5'UTR	p.Y142C	NM_001206957.1|NM_007182.4|NM_170714.1	NP_001193886.1|NP_009113.3|NP_733832.1	Q9NS23	RASF1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000278)|OV - Ovarian serous cystadenocarcinoma(275;0.0015)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)	3	531	-			146						Missense_Mutation	SNP	ENST00000357043.2	37	c.425A>G	CCDS2820.1	.	.	.	.	.	.	.	.	.	.	T	24.9	4.581321	0.86748	.	.	ENSG00000068028	ENST00000327761;ENST00000357043;ENST00000359365	T;D;D	0.88509	1.41;-2.39;-2.38	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	D	0.94528	0.8238	M	0.83223	2.63	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.997;0.999;0.999	D	0.95205	0.8320	10	0.87932	D	0	-33.2416	14.4425	0.67327	0.0:0.0:0.0:1.0	.	142;146;72	Q9NS23-2;Q9NS23;Q5TZT2	.;RASF1_HUMAN;.	C	72;146;142	ENSP00000333327:Y72C;ENSP00000349547:Y146C;ENSP00000352323:Y142C	ENSP00000333327:Y72C	Y	-	2	0	RASSF1	50344522	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.969000	0.87988	2.094000	0.63399	0.379000	0.24179	TAC		0.557	RASSF1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000314304.1			3	103	0	0	0	0.184627	0	3	103					C	50369518	T	C	50369518	3	2	260	1	0	0	0	0	1	0	0	0	13084	1638	57	4	613	4	RASSF1	3	50369518	Missense_Mutation	SNP	T	TCGA-HI-7170-01A-11D-2114-08	1746384	50369518	147652912	7	12221											
EPHB3	2049	broad.mit.edu	37	chr3	184298196	184298196	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cttgttgcctgcagctcaacGatgggcagttcacggtcatc	7	11	11	12	2	3	0	3	0	0	0	4	1	3	0	1	2	4	5	1	2	1	3	rs34170386		TCGA-HI-7170-01A-11D-2114-08	TCGA-HI-7170-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10812a81-93f3-4eb6-967f-b415d2263f0e	473c4d37-6639-45f0-a67a-8e34049d0b29	g.chr3:184298196G>A	ENST00000330394.2	+	12	2631	c.2179G>A	c.(2179-2181)Gat>Aat	p.D727N	EIF2B5_ENST00000444495.1_Intron	NM_004443.3	NP_004434.2	P54753	EPHB3_HUMAN	EPH receptor B3	727	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|cell migration (GO:0016477)|central nervous system projection neuron axonogenesis (GO:0021952)|corpus callosum development (GO:0022038)|dendritic spine development (GO:0060996)|dendritic spine morphogenesis (GO:0060997)|digestive tract morphogenesis (GO:0048546)|ephrin receptor signaling pathway (GO:0048013)|palate development (GO:0060021)|positive regulation of synapse assembly (GO:0051965)|protein autophosphorylation (GO:0046777)|regulation of axonogenesis (GO:0050770)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell-cell adhesion (GO:0022407)|regulation of Rac GTPase activity (GO:0032314)|retinal ganglion cell axon guidance (GO:0031290)|substrate adhesion-dependent cell spreading (GO:0034446)|thymus development (GO:0048538)|urogenital system development (GO:0001655)	cell projection (GO:0042995)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|ephrin receptor activity (GO:0005003)			breast(5)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_cancers(143;1.89e-10)|Ovarian(172;0.0339)		Epithelial(37;1.27e-34)|OV - Ovarian serous cystadenocarcinoma(80;3.8e-22)			GCAGCTCAACGATGGGCAGTT	0.607																																						ENST00000330394.2																			0				breast(5)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	51						c.(2179-2181)Gat>Aat		EPH receptor B3							116	104	108					3																	184298196		2203	4300	6503	SO:0001583	missense	2049					integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr3:184298196G>A	X75208	CCDS3268.1	3q27.1	2013-09-19	2004-10-28		ENSG00000182580	ENSG00000182580		"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3394	protein-coding gene	gene with protein product		601839	"EphB3"	ETK2		8397371	Standard	NM_004443		Approved	Hek2, Tyro6	uc003foz.3	P54753	OTTHUMG00000156710	ENST00000330394.2:c.2179G>A	3.37:g.184298196G>A	ENSP00000332118:p.Asp727Asn					EIF2B5_ENST00000444495.1_Intron	p.D727N	NM_004443.3	NP_004434.2	P54753	EPHB3_HUMAN	Epithelial(37;1.27e-34)|OV - Ovarian serous cystadenocarcinoma(80;3.8e-22)		12	2631	+	all_cancers(143;1.89e-10)|Ovarian(172;0.0339)		727			Protein kinase.		Q7Z740	Missense_Mutation	SNP	ENST00000330394.2	37	c.2179G>A	CCDS3268.1	.	.	.	.	.	.	.	.	.	.	G	19.66	3.868730	0.72065	.	.	ENSG00000182580	ENST00000330394	T	0.61859	0.07	3.79	3.79	0.43588	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.44912	0.1316	N	0.16862	0.45	0.80722	D	1	P	0.42123	0.771	B	0.41036	0.346	T	0.56679	-0.7939	10	0.87932	D	0	.	15.5253	0.75898	0.0:0.0:1.0:0.0	.	727	P54753	EPHB3_HUMAN	N	727	ENSP00000332118:D727N	ENSP00000332118:D727N	D	+	1	0	EPHB3	185780890	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	9.787000	0.99055	2.084000	0.62774	0.393000	0.25936	GAT		0.607	EPHB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345413.1	NM_004443		15	114	0	0	0	0.520397	0	15	114					A	184298196	G	A	184298196	3	1	260	1	0	0	0	0	1	0	0	0	5176	1058	37	2	2225	2	EPHB3	3	184298196	Missense_Mutation	SNP	G	TCGA-HI-7170-01A-11D-2114-08	133928678	184298196	13724234	8	12222											
GRXCR1	389207	broad.mit.edu	37	chr4	42895492	42895492	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tggccacatagagtcagaagGtgatgagaatgagaatgacc	15	7	13	6	0	1	6	1	4	0	4	1	8	1	6	2	2	0	0	2	2	4	1			TCGA-HI-7170-01A-11D-2114-08	TCGA-HI-7170-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10812a81-93f3-4eb6-967f-b415d2263f0e	473c4d37-6639-45f0-a67a-8e34049d0b29	g.chr4:42895492G>A	ENST00000399770.2	+	1	209	c.209G>A	c.(208-210)gGt>gAt	p.G70D	RN7SKP82_ENST00000516786.1_RNA	NM_001080476.2	NP_001073945.1	A8MXD5	GRCR1_HUMAN	glutaredoxin, cysteine rich 1	70					auditory receptor cell differentiation (GO:0042491)|cell redox homeostasis (GO:0045454)|inner ear receptor cell development (GO:0060119)|inner ear receptor stereocilium organization (GO:0060122)|negative regulation of phosphatase activity (GO:0010923)|post-embryonic organ morphogenesis (GO:0048563)|sensory perception of sound (GO:0007605)|vestibular receptor cell development (GO:0060118)	kinocilium (GO:0060091)|stereocilium (GO:0032420)	electron carrier activity (GO:0009055)|protein disulfide oxidoreductase activity (GO:0015035)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(22)|ovary(1)|prostate(2)|skin(1)	32						GAGTCAGAAGGTGATGAGAAT	0.463																																						ENST00000399770.2																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(22)|ovary(1)|prostate(2)|skin(1)	32						c.(208-210)gGt>gAt		glutaredoxin, cysteine rich 1							162	170	167					4																	42895492		2057	4209	6266	SO:0001583	missense	389207				cell redox homeostasis|inner ear receptor stereocilium organization|sensory perception of sound|vestibular receptor cell development	kinocilium|stereocilium	electron carrier activity|protein disulfide oxidoreductase activity	g.chr4:42895492G>A		CCDS43225.1	4p14	2014-06-12			ENSG00000215203	ENSG00000215203			31673	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 88"	613283	"deafness, autosomal recessive 25"	DFNB25		20137778	Standard	NM_001080476		Approved	PPP1R88	uc003gwt.3	A8MXD5	OTTHUMG00000160434	ENST00000399770.2:c.209G>A	4.37:g.42895492G>A	ENSP00000382670:p.Gly70Asp						p.G70D	NM_001080476.2	NP_001073945.1	A8MXD5	GRCR1_HUMAN			1	209	+			70						Missense_Mutation	SNP	ENST00000399770.2	37	c.209G>A	CCDS43225.1	.	.	.	.	.	.	.	.	.	.	G	0.310	-0.968488	0.02232	.	.	ENSG00000215203	ENST00000399770	T	0.32515	1.45	5.34	4.49	0.54785	.	0.639727	0.14736	N	0.301468	T	0.17916	0.0430	N	0.22421	0.69	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.25398	-1.0133	10	0.12766	T	0.61	-11.226	7.5744	0.27926	0.0838:0.0:0.7523:0.1639	.	70	A8MXD5	GRCR1_HUMAN	D	70	ENSP00000382670:G70D	ENSP00000382670:G70D	G	+	2	0	GRXCR1	42590249	0.933000	0.31639	0.569000	0.28460	0.093000	0.18481	2.212000	0.42835	1.463000	0.47967	0.650000	0.86243	GGT		0.463	GRXCR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360576.1	NM_001080476		4	154	0	0	0	0.184627	0	4	154					A	42895492	G	A	42895492	3	1	260	1	0	0	0	0	1	0	0	0	6812	1261	44	3	211	3	GRXCR1	4	42895492	Missense_Mutation	SNP	G	TCGA-HI-7170-01A-11D-2114-08		42895492	148258784	9	12223											
SPATA18	132671	broad.mit.edu	37	chr4	52944970	52944970	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgagaaaatcgttgacaccaTcttatgtggggtcgaatgac	12	11	11	7	2	1	3	0	3	1	1	3	5	1	3	1	2	0	1	1	2	4	2			TCGA-HI-7170-01A-11D-2114-08	TCGA-HI-7170-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10812a81-93f3-4eb6-967f-b415d2263f0e	473c4d37-6639-45f0-a67a-8e34049d0b29	g.chr4:52944970T>A	ENST00000295213.4	+	8	1464	c.1090T>A	c.(1090-1092)Tct>Act	p.S364T	SPATA18_ENST00000419395.2_Missense_Mutation_p.S332T	NM_145263.2	NP_660306.1	Q8TC71	MIEAP_HUMAN	spermatogenesis associated 18	364					cellular response to DNA damage stimulus (GO:0006974)|mitochondrial protein catabolic process (GO:0035694)|mitochondrion degradation by induced vacuole formation (GO:0035695)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrial outer membrane (GO:0005741)				breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41			GBM - Glioblastoma multiforme(4;1.77e-13)|LUSC - Lung squamous cell carcinoma(32;0.00204)			GTTGACACCATCTTATGTGGG	0.378																																						ENST00000295213.4																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						c.(1090-1092)Tct>Act		spermatogenesis associated 18							238	209	219					4																	52944970		2203	4300	6503	SO:0001583	missense	132671				mitochondrial protein catabolic process|mitochondrion degradation by induced vacuole formation|response to DNA damage stimulus	mitochondrial outer membrane	protein binding	g.chr4:52944970T>A	BC025396	CCDS3489.1, CCDS75124.1	4q11	2012-01-23	2012-01-23		ENSG00000163071	ENSG00000163071			29579	protein-coding gene	gene with protein product		612814	"spermatogenesis associated 18 homolog (rat)"			21300779	Standard	XR_245253		Approved	FLJ32906	uc003gzl.3	Q8TC71	OTTHUMG00000128698	ENST00000295213.4:c.1090T>A	4.37:g.52944970T>A	ENSP00000295213:p.Ser364Thr					SPATA18_ENST00000419395.2_Missense_Mutation_p.S332T	p.S364T	NM_145263.2	NP_660306.1	Q8TC71	MIEAP_HUMAN	GBM - Glioblastoma multiforme(4;1.77e-13)|LUSC - Lung squamous cell carcinoma(32;0.00204)		8	1464	+			364					B4E2R0|E5RLK1|Q8IY48|Q8N7D7	Missense_Mutation	SNP	ENST00000295213.4	37	c.1090T>A	CCDS3489.1	.	.	.	.	.	.	.	.	.	.	T	2.677	-0.276202	0.05679	.	.	ENSG00000163071	ENST00000295213;ENST00000419395	T;T	0.32988	1.43;1.59	4.99	-0.893	0.10567	.	0.744958	0.12701	N	0.446341	T	0.18257	0.0438	N	0.22421	0.69	0.09310	N	1	B;B;P	0.45902	0.031;0.031;0.868	B;B;P	0.46585	0.019;0.011;0.521	T	0.17137	-1.0379	10	0.09338	T	0.73	-8.7228	5.1742	0.15126	0.4124:0.0828:0.0:0.5048	.	332;364;364	Q8TC71-2;Q8TC71;Q96M13	.;MIEAP_HUMAN;.	T	364;332	ENSP00000295213:S364T;ENSP00000415309:S332T	ENSP00000295213:S364T	S	+	1	0	SPATA18	52639727	0.000000	0.05858	0.001000	0.08648	0.003000	0.03518	0.359000	0.20233	0.043000	0.15746	-0.274000	0.10170	TCT		0.378	SPATA18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250597.2	NM_145263		6	111	0	0	0	0.27861	0	6	111					A	52944970	T	A	52944970	3	1	260	1	0	0	0	0	1	0	0	0	15002	1435	50	5	1120	5	SPATA18	4	52944970	Missense_Mutation	SNP	T	TCGA-HI-7170-01A-11D-2114-08	10049478	52944970	138209306	10	12224											
UGT2B11	10720	broad.mit.edu	37	chr4	70066349	70066349	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctcctttgtggggcatgaCaaattcaatccagaagactg	11	10	11	9	0	1	3	1	1	0	2	3	3	3	3	2	3	0	2	2	3	3	2			TCGA-HI-7170-01A-11D-2114-08	TCGA-HI-7170-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10812a81-93f3-4eb6-967f-b415d2263f0e	473c4d37-6639-45f0-a67a-8e34049d0b29	g.chr4:70066349C>A	ENST00000446444.1	-	6	1407	c.1399G>T	c.(1399-1401)Gtc>Ttc	p.V467F	RP11-704M14.1_ENST00000504301.1_RNA|RP11-704M14.1_ENST00000505646.1_RNA	NM_001073.1	NP_001064.1	O75310	UDB11_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B11	467					estrogen metabolic process (GO:0008210)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	42						TGGGGCATGACAAATTCAATC	0.438																																						ENST00000446444.1																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	42						c.(1399-1401)Gtc>Ttc		UDP glucuronosyltransferase 2 family, polypeptide B11							126	124	125					4																	70066349		2203	4298	6501	SO:0001583	missense	10720				estrogen metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	g.chr4:70066349C>A	AF016492	CCDS3527.1	4q13.3	2008-02-05	2005-07-20		ENSG00000213759	ENSG00000213759		"UDP glucuronosyltransferases"	12545	protein-coding gene	gene with protein product		603064	"UDP glycosyltransferase 2 family, polypeptide B11"			9675083	Standard	NM_001073		Approved		uc003heh.3	O75310	OTTHUMG00000129395	ENST00000446444.1:c.1399G>T	4.37:g.70066349C>A	ENSP00000387683:p.Val467Phe					RP11-704M14.1_ENST00000504301.1_RNA|RP11-704M14.1_ENST00000505646.1_RNA	p.V467F	NM_001073.1	NP_001064.1	O75310	UDB11_HUMAN			6	1407	-			467					Q3KNV9	Missense_Mutation	SNP	ENST00000446444.1	37	c.1399G>T	CCDS3527.1	.	.	.	.	.	.	.	.	.	.	-	9.912	1.209689	0.22289	.	.	ENSG00000213759	ENST00000446444	T	0.69685	-0.42	1.27	1.27	0.21489	.	0.210926	0.30593	U	0.009295	D	0.85553	0.5723	H	0.97829	4.085	0.22819	N	0.998697	D	0.89917	1.0	D	0.79784	0.993	T	0.74910	-0.3503	10	0.87932	D	0	.	8.4963	0.33130	0.0:1.0:0.0:0.0	.	467	O75310	UDB11_HUMAN	F	467	ENSP00000387683:V467F	ENSP00000387683:V467F	V	-	1	0	UGT2B11	70100938	1.000000	0.71417	0.995000	0.50966	0.206000	0.24218	1.826000	0.39092	1.023000	0.39654	0.184000	0.17185	GTC		0.438	UGT2B11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251551.2	NM_001073		27	99	1	0	2.80507e-11	0.760397	3.55765e-11	27	99					A	70066349	C	A	70066349	3	1	260	1	0	0	0	0	1	0	0	0	16954	478	17	5	194	5	UGT2B11	4	70066349	Missense_Mutation	SNP	C	TCGA-HI-7170-01A-11D-2114-08	17121379	70066349	121087927	11	12225											
HELQ	113510	broad.mit.edu	37	chr4	84368107	84368107	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tttcttttcccttcttttagTtggaggaaatcttcctttgc	5	21	6	9	0	3	0	0	0	3	0	5	2	5	2	2	2	1	1	2	2	2	9			TCGA-HI-7170-01A-11D-2114-08	TCGA-HI-7170-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10812a81-93f3-4eb6-967f-b415d2263f0e	473c4d37-6639-45f0-a67a-8e34049d0b29	g.chr4:84368107T>C	ENST00000295488.3	-	4	1435	c.1273A>G	c.(1273-1275)Act>Gct	p.T425A	HELQ_ENST00000510985.1_Intron	NM_133636.2	NP_598375	Q8TDG4	HELQ_HUMAN	helicase, POLQ-like	425	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				double-strand break repair via homologous recombination (GO:0000724)	nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)			breast(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(10)|lung(17)|ovary(2)|skin(2)	38						CTTCTTTTAGTTGGAGGAAAT	0.353								Other identified genes with known or suspected DNA repair function																														ENST00000295488.3																			0				breast(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(10)|lung(17)|ovary(2)|skin(2)	38						c.(1273-1275)Act>Gct	Other identified genes with known or suspected DNA repair function	helicase, POLQ-like							90	87	88					4																	84368107		2203	4300	6503	SO:0001583	missense	113510						ATP binding|ATP-dependent helicase activity|nucleic acid binding	g.chr4:84368107T>C	AF436845	CCDS3603.1, CCDS75158.1	4q21.23	2009-02-26			ENSG00000163312	ENSG00000163312			18536	protein-coding gene	gene with protein product		606769				11751861	Standard	XM_005262711		Approved	Hel308	uc003hom.3	Q8TDG4	OTTHUMG00000130423	ENST00000295488.3:c.1273A>G	4.37:g.84368107T>C	ENSP00000295488:p.Thr425Ala					HELQ_ENST00000510985.1_Intron	p.T425A	NM_133636.2	NP_598375.2	Q8TDG4	HELQ_HUMAN			4	1435	-			425			Helicase ATP-binding.		Q05DF9|Q502W9|Q659B8|Q6ZQX4|Q6ZTS4|Q96EX7	Missense_Mutation	SNP	ENST00000295488.3	37	c.1273A>G	CCDS3603.1	.	.	.	.	.	.	.	.	.	.	T	9.812	1.183325	0.21870	.	.	ENSG00000163312	ENST00000295488	T	0.14640	2.49	5.34	0.343	0.16001	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.426079	0.27298	N	0.020020	T	0.06280	0.0162	N	0.13352	0.335	0.36709	D	0.88053	B	0.12013	0.005	B	0.19946	0.027	T	0.38887	-0.9640	10	0.08837	T	0.75	-5.3889	8.838	0.35123	0.0:0.29:0.0:0.71	.	425	Q8TDG4	HELQ_HUMAN	A	425	ENSP00000295488:T425A	ENSP00000295488:T425A	T	-	1	0	HELQ	84587131	0.994000	0.37717	0.941000	0.38009	0.927000	0.56198	0.790000	0.26900	0.113000	0.18004	0.477000	0.44152	ACT		0.353	HELQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252810.1	NM_133636		12	48	0	0	0	0.435327	0	12	48					C	84368107	T	C	84368107	3	2	260	1	0	0	0	0	1	0	0	0	7047	1725	60	4	2092	4	HELQ	4	84368107	Missense_Mutation	SNP	T	TCGA-HI-7170-01A-11D-2114-08	14301758	84368107	106786169	12	12226											
WDR17	116966	broad.mit.edu	37	chr4	177058695	177058695	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tttaaattgtattgctggggGaacttcccgaaatggtgctt	9	15	11	6	1	0	0	0	0	0	0	1	2	1	1	1	3	3	3	1	3	5	7			TCGA-HI-7170-01A-11D-2114-08	TCGA-HI-7170-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10812a81-93f3-4eb6-967f-b415d2263f0e	473c4d37-6639-45f0-a67a-8e34049d0b29	g.chr4:177058695G>A	ENST00000280190.4	+	10	1520	c.1364G>A	c.(1363-1365)gGa>gAa	p.G455E	WDR17_ENST00000508596.1_Missense_Mutation_p.G431E|WDR17_ENST00000507824.2_Missense_Mutation_p.G438E|WDR17_ENST00000393643.2_Missense_Mutation_p.G431E			Q8IZU2	WDR17_HUMAN	WD repeat domain 17	455										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(18)|lung(46)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	92		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)		ATTGCTGGGGGAACTTCCCGA	0.289																																						ENST00000393643.2																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(18)|lung(46)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	92						c.(1291-1293)gGa>gAa		WD repeat domain 17							77	81	80					4																	177058695		2202	4295	6497	SO:0001583	missense	116966							g.chr4:177058695G>A	AF492460	CCDS3825.1, CCDS43284.1, CCDS43284.2	4q34	2013-01-09			ENSG00000150627	ENSG00000150627		"WD repeat domain containing"	16661	protein-coding gene	gene with protein product		609005				12401215	Standard	NM_170710		Approved		uc003iuj.3	Q8IZU2	OTTHUMG00000160791	ENST00000280190.4:c.1364G>A	4.37:g.177058695G>A	ENSP00000280190:p.Gly455Glu					WDR17_ENST00000280190.4_Missense_Mutation_p.G455E|WDR17_ENST00000508596.1_Missense_Mutation_p.G431E|WDR17_ENST00000507824.2_Missense_Mutation_p.G438E	p.G431E	NM_170710.4	NP_733828.2	Q8IZU2	WDR17_HUMAN		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)	9	1544	+		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)	455					E7EQX0|Q0QD35	Missense_Mutation	SNP	ENST00000280190.4	37	c.1292G>A	CCDS3825.1	.	.	.	.	.	.	.	.	.	.	G	14.39	2.522101	0.44866	.	.	ENSG00000150627	ENST00000508596;ENST00000393643;ENST00000280190;ENST00000507824	T;T;T	0.09538	3.38;2.97;3.38	5.08	4.23	0.50019	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.123058	0.53938	D	0.000056	T	0.07638	0.0192	N	0.14661	0.345	0.29404	N	0.861716	B;B	0.32717	0.145;0.381	B;B	0.28784	0.094;0.094	T	0.07309	-1.0779	10	0.72032	D	0.01	-3.8051	15.5261	0.75910	0.0:0.7281:0.2719:0.0	.	431;455	E7EQX0;Q8IZU2	.;WDR17_HUMAN	E	431;431;455;438	ENSP00000422763:G431E;ENSP00000377258:G431E;ENSP00000280190:G455E	ENSP00000280190:G455E	G	+	2	0	WDR17	177295689	1.000000	0.71417	0.998000	0.56505	0.986000	0.74619	3.128000	0.50492	1.274000	0.44362	-0.165000	0.13383	GGA		0.289	WDR17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362334.2			14	45	0	0	0	0.520397	0	14	45					A	177058695	G	A	177058695	3	1	260	1	0	0	0	0	1	0	0	0	17274	1174	41	3	1398	3	WDR17	4	177058695	Missense_Mutation	SNP	G	TCGA-HI-7170-01A-11D-2114-08	92690588	177058695	14095581	13	12227											
ODZ3	55714	broad.mit.edu	37	chr4	183675933	183675933	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tacgccaaggatgccaaactCagtgccccatcctccctggc	9	7	8	17	1	1	0	1	0	0	0	3	1	3	1	6	2	4	0	6	2	3	1			TCGA-HI-7170-01A-11D-2114-08	TCGA-HI-7170-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10812a81-93f3-4eb6-967f-b415d2263f0e	473c4d37-6639-45f0-a67a-8e34049d0b29	g.chr4:183675933C>T	ENST00000511685.1	+	22	4536	c.4413C>T	c.(4411-4413)ctC>ctT	p.L1471L	TENM3_ENST00000502950.1_3'UTR|TENM3_ENST00000406950.2_Silent_p.L1471L			Q9P273	TEN3_HUMAN	teneurin transmembrane protein 3	1471					camera-type eye morphogenesis (GO:0048593)|homophilic cell adhesion (GO:0007156)|positive regulation of neuron projection development (GO:0010976)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cell projection (GO:0042995)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)										ATGCCAAACTCAGTGCCCCAT	0.498																																						ENST00000511685.1																			0											c.(4411-4413)ctC>ctT		teneurin transmembrane protein 3							81	84	83					4																	183675933		2009	4184	6193	SO:0001819	synonymous_variant	55714							g.chr4:183675933C>T	AF195420	CCDS47165.1	4q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000218336	ENSG00000218336			29944	protein-coding gene	gene with protein product		610083	"odz, odd Oz/ten-m homolog 3 (Drosophila)"	ODZ3		10331952, 10625539	Standard	NM_001080477		Approved	Ten-M3, KIAA1455	uc003ivd.1	Q9P273	OTTHUMG00000160682	ENST00000511685.1:c.4413C>T	4.37:g.183675933C>T						TENM3_ENST00000406950.2_Silent_p.L1471L|TENM3_ENST00000502950.1_3'UTR	p.L1471L							22	4536	+								Q5XUL9|Q96SY2|Q9NV77|Q9NVW1|Q9NZJ2	Silent	SNP	ENST00000511685.1	37	c.4413C>T	CCDS47165.1																																																																																				0.498	TENM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361734.1			14	46	0	0	0	0.539581	0	14	46					T	183675933	C	T	183675933	2	4	260	1	0	0	0	0	0	0	0	1	10836	813	29	3		3	ODZ3	4	183675933	Silent	SNP	C	TCGA-HI-7170-01A-11D-2114-08	6617238	183675933	7478343	14	12228											
GALNT10	55568	broad.mit.edu	37	chr5	153765900	153765900	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtgatggccggtggactgttCgccgtggatcggaagtggtt	5	11	18	7	4	0	1	0	1	0	0	2	4	0	4	2	6	0	2	2	6	1	2			TCGA-HI-7170-01A-11D-2114-08	TCGA-HI-7170-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10812a81-93f3-4eb6-967f-b415d2263f0e	473c4d37-6639-45f0-a67a-8e34049d0b29	g.chr5:153765900C>T	ENST00000297107.6	+	7	1103	c.966C>T	c.(964-966)ttC>ttT	p.F322F	GALNT10_ENST00000377661.2_Silent_p.F260F|GALNT10_ENST00000425427.2_Silent_p.F322F|GALNT10_ENST00000519544.1_3'UTR|SAP30L-AS1_ENST00000519727.1_RNA	NM_198321.3	NP_938080.1	Q86SR1	GLT10_HUMAN	polypeptide N-acetylgalactosaminyltransferase 10	322	Catalytic subdomain B.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(12)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	32	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)|all_hematologic(541;0.21)	Kidney(363;8.21e-05)|KIRC - Kidney renal clear cell carcinoma(527;0.000577)			GTGGACTGTTCGCCGTGGATC	0.572																																						ENST00000297107.6																			0				cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(12)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	32						c.(964-966)ttC>ttT		UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 10 (GalNAc-T10)							182	168	173					5																	153765900		2203	4300	6503	SO:0001819	synonymous_variant	55568					Golgi membrane|integral to membrane	metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr5:153765900C>T	AK023782	CCDS4325.1	5q34	2014-03-13	2014-03-13		ENSG00000164574	ENSG00000164574	2.4.1.41	"Glycosyltransferase family 2 domain containing"	19873	protein-coding gene	gene with protein product	"polypeptide GalNAc transferase 10"	608043	"UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 10 (GalNAc-T10)"			12417297	Standard	NM_198321		Approved	GalNAc-T10	uc003lvh.3	Q86SR1	OTTHUMG00000130145	ENST00000297107.6:c.966C>T	5.37:g.153765900C>T						GALNT10_ENST00000377661.2_Silent_p.F260F|GALNT10_ENST00000425427.2_Silent_p.F322F|GALNT10_ENST00000519544.1_3'UTR|SAP30L-AS1_ENST00000519727.1_RNA	p.F322F	NM_198321.3	NP_938080.1	Q86SR1	GLT10_HUMAN	Kidney(363;8.21e-05)|KIRC - Kidney renal clear cell carcinoma(527;0.000577)		7	1103	+	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)|all_hematologic(541;0.21)	322			Catalytic subdomain B.		B3KXC9|Q6IN56|Q86VP8|Q8IXJ2|Q8TEJ2|Q96IV2|Q9H8E1|Q9Y4M4	Silent	SNP	ENST00000297107.6	37	c.966C>T	CCDS4325.1																																																																																				0.572	GALNT10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252453.1	NM_198321		41	130	0	0	0	0.870114	0	41	130					T	153765900	C	T	153765900	2	4	260	1	0	0	0	0	0	0	0	1	6208	883	31	2		2	GALNT10	5	153765900	Silent	SNP	C	TCGA-HI-7170-01A-11D-2114-08		153765900	27149360	15	12229											
TAS2R5	54429	broad.mit.edu	37	chr7	141490469	141490469	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	caccttcctcagtgtcttctAttgcaagaagatcacgacct	10	12	6	13	1	4	2	2	0	2	2	5	3	5	2	3	0	1	1	3	0	3	4			TCGA-HI-7170-01A-11D-2114-08	TCGA-HI-7170-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10812a81-93f3-4eb6-967f-b415d2263f0e	473c4d37-6639-45f0-a67a-8e34049d0b29	g.chr7:141490469A>G	ENST00000247883.4	+	1	453	c.308A>G	c.(307-309)tAt>tGt	p.Y103C		NM_018980.2	NP_061853.1	Q9NYW4	TA2R5_HUMAN	taste receptor, type 2, member 5	103					chemosensory behavior (GO:0007635)|detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|sensory perception of taste (GO:0050909)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)|taste receptor activity (GO:0008527)			breast(1)|endometrium(1)|large_intestine(4)|lung(2)|skin(1)	9	Melanoma(164;0.0171)					AGTGTCTTCTATTGCAAGAAG	0.517																																						ENST00000247883.4																			0				breast(1)|endometrium(1)|large_intestine(4)|lung(2)|skin(1)	9						c.(307-309)tAt>tGt		taste receptor, type 2, member 5							83	79	80					7																	141490469		2203	4300	6503	SO:0001583	missense	54429				chemosensory behavior|sensory perception of taste		taste receptor activity	g.chr7:141490469A>G	AF227132	CCDS5869.1	7q31.3-q32	2012-08-22			ENSG00000127366	ENSG00000127366		"Taste receptors / Type 2", "GPCR / Unclassified : Taste receptors"	14912	protein-coding gene	gene with protein product		605062					Standard	NM_018980		Approved	T2R5	uc003vwr.1	Q9NYW4	OTTHUMG00000157632	ENST00000247883.4:c.308A>G	7.37:g.141490469A>G	ENSP00000247883:p.Tyr103Cys						p.Y103C	NM_018980.2	NP_061853.1	Q9NYW4	TA2R5_HUMAN			1	453	+	Melanoma(164;0.0171)		103					Q645W0|Q75MV7	Missense_Mutation	SNP	ENST00000247883.4	37	c.308A>G	CCDS5869.1	.	.	.	.	.	.	.	.	.	.	A	15.83	2.948472	0.53186	.	.	ENSG00000127366	ENST00000247883	T	0.37058	1.22	4.46	-0.693	0.11298	.	.	.	.	.	T	0.52821	0.1758	M	0.84326	2.69	0.22266	N	0.999247	D	0.89917	1.0	D	0.97110	1.0	T	0.44081	-0.9351	9	0.87932	D	0	.	0.4505	0.00500	0.428:0.1836:0.2108:0.1777	.	103	Q9NYW4	TA2R5_HUMAN	C	103	ENSP00000247883:Y103C	ENSP00000247883:Y103C	Y	+	2	0	TAS2R5	141136938	0.996000	0.38824	0.808000	0.32385	0.917000	0.54804	1.580000	0.36547	0.268000	0.21939	0.459000	0.35465	TAT		0.517	TAS2R5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349283.1			11	28	0	0	0	0.38729	0	11	28					G	141490469	A	G	141490469	3	3	260	1	0	0	0	0	1	0	0	0	15580	449	16	4	310	4	TAS2R5	7	141490469	Missense_Mutation	SNP	A	TCGA-HI-7170-01A-11D-2114-08		141490469	17648194	16	12230											
MLL3	58508	broad.mit.edu	37	chr7	151970814	151970814	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttcaggagcttggtcaatgtGttctggacaaagcaggaaga	12	10	13	6	0	3	1	2	0	1	1	3	4	3	4	0	4	2	3	0	4	3	3			TCGA-HI-7170-01A-11D-2114-08	TCGA-HI-7170-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10812a81-93f3-4eb6-967f-b415d2263f0e	473c4d37-6639-45f0-a67a-8e34049d0b29	g.chr7:151970814G>T	ENST00000262189.6	-	7	1206	c.988C>A	c.(988-990)Cac>Aac	p.H330N	KMT2C_ENST00000355193.2_Missense_Mutation_p.H330N	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	330					histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										TGGTCAATGTGTTCTGGACAA	0.393																																						ENST00000355193.2																			0											c.(988-990)Cac>Aac		lysine (K)-specific methyltransferase 2C							246	229	235					7																	151970814		2203	4300	6503	SO:0001583	missense	58508							g.chr7:151970814G>T	AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	13726	protein-coding gene	gene with protein product		606833	"myeloid/lymphoid or mixed-lineage leukemia 3"	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.988C>A	7.37:g.151970814G>T	ENSP00000262189:p.His330Asn					KMT2C_ENST00000262189.6_Missense_Mutation_p.H330N	p.H330N							7	1206	-								Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Missense_Mutation	SNP	ENST00000262189.6	37	c.988C>A	CCDS5931.1	.	.	.	.	.	.	.	.	.	.	G	16.78	3.217809	0.58560	.	.	ENSG00000055609	ENST00000262189;ENST00000355193	D;D	0.85955	-2.05;-2.05	4.78	4.78	0.61160	Zinc finger, PHD-type (1);Protein kinase C-like, phorbol ester/diacylglycerol binding (1);Zinc finger, FYVE/PHD-type (1);	0.000000	0.45606	U	0.000358	D	0.94928	0.8360	H	0.95850	3.73	0.80722	D	1	D	0.69078	0.997	D	0.80764	0.994	D	0.96110	0.9076	10	0.54805	T	0.06	.	18.1678	0.89734	0.0:0.0:1.0:0.0	.	330	Q8NEZ4	MLL3_HUMAN	N	330	ENSP00000262189:H330N;ENSP00000347325:H330N	ENSP00000262189:H330N	H	-	1	0	MLL3	151601747	1.000000	0.71417	0.995000	0.50966	0.989000	0.77384	7.900000	0.87376	2.375000	0.81037	0.585000	0.79938	CAC		0.393	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3			4	196	1	0	0.00116845	0.217242	0.00132085	4	196					T	151970814	G	T	151970814	3	4	260	1	0	0	0	0	1	0	0	0	9622	1377	48	5	13959	5	MLL3	7	151970814	Missense_Mutation	SNP	G	TCGA-HI-7170-01A-11D-2114-08	10480345	151970814	7167849	17	12231											
EN2	2020	broad.mit.edu	37	chr7	155255151	155255151	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tttaccgccgagcagctgcaGaggctcaaggccgagttcca	9	7	12	13	3	1	1	1	0	0	1	2	3	2	1	4	2	4	5	4	2	2	3			TCGA-HI-7170-01A-11D-2114-08	TCGA-HI-7170-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10812a81-93f3-4eb6-967f-b415d2263f0e	473c4d37-6639-45f0-a67a-8e34049d0b29	g.chr7:155255151G>A	ENST00000297375.4	+	2	1020	c.771G>A	c.(769-771)caG>caA	p.Q257Q		NM_001427.3	NP_001418.2	P19622	HME2_HUMAN	engrailed homeobox 2	257					hindbrain development (GO:0030902)|midbrain development (GO:0030901)|multicellular organismal development (GO:0007275)|neuron development (GO:0048666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	membrane (GO:0016020)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			central_nervous_system(1)|large_intestine(1)|lung(2)	4	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.011)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		AGCAGCTGCAGAGGCTCAAGG	0.592																																						ENST00000297375.4																			0				central_nervous_system(1)|large_intestine(1)|lung(2)	4						c.(769-771)caG>caA		engrailed homeobox 2							66	71	70					7																	155255151		2203	4300	6503	SO:0001819	synonymous_variant	2020					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:155255151G>A		CCDS5940.1	7q36.2	2011-06-20	2007-02-15		ENSG00000164778	ENSG00000164778		"Homeoboxes / ANTP class : NKL subclass"	3343	protein-coding gene	gene with protein product		131310					Standard	NM_001427		Approved		uc003wmb.3	P19622	OTTHUMG00000151354	ENST00000297375.4:c.771G>A	7.37:g.155255151G>A							p.Q257Q	NM_001427.3	NP_001418.2	P19622	HME2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.011)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	2	1020	+	all_neural(206;0.119)	all_hematologic(28;0.0592)	257					A4D252|Q549U3|Q9UD58	Silent	SNP	ENST00000297375.4	37	c.771G>A	CCDS5940.1																																																																																				0.592	EN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322337.1	NM_001427		12	52	0	0	0	0.457914	0	12	52					A	155255151	G	A	155255151	2	1	260	1	0	0	0	0	0	0	0	1	5110	933	33	3		3	EN2	7	155255151	Silent	SNP	G	TCGA-HI-7170-01A-11D-2114-08	3284337	155255151	3883512	18	12232											
LPPR1	54886	broad.mit.edu	37	chr9	104086314	104086314	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtttgctccacagaatcactCtgcgtccatgaccgaagtta	10	11	8	12	2	2	2	1	1	1	1	4	3	4	2	3	0	2	3	3	0	3	2			TCGA-HI-7170-01A-11D-2114-08	TCGA-HI-7170-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10812a81-93f3-4eb6-967f-b415d2263f0e	473c4d37-6639-45f0-a67a-8e34049d0b29	g.chr9:104086314C>A	ENST00000374874.3	+	8	1392	c.953C>A	c.(952-954)tCt>tAt	p.S318Y	SNORA31_ENST00000517232.1_RNA|LPPR1_ENST00000395056.2_Missense_Mutation_p.S318Y	NM_207299.1	NP_997182.1	Q8TBJ4	LPPR1_HUMAN		318					nervous system development (GO:0007399)	integral component of membrane (GO:0016021)	catalytic activity (GO:0003824)										CAGAATCACTCTGCGTCCATG	0.418																																						ENST00000374874.3																			0											c.(952-954)tCt>tAt									165	128	140					9																	104086314		2203	4300	6503	SO:0001583	missense	0					integral to membrane	catalytic activity	g.chr9:104086314C>A																												ENST00000374874.3:c.953C>A	9.37:g.104086314C>A	ENSP00000364008:p.Ser318Tyr					LPPR1_ENST00000395056.2_Missense_Mutation_p.S318Y	p.S318Y	NM_207299.1	NP_997182.1	Q8TBJ4	LPPR1_HUMAN			8	1392	+			318					Q5VX23|Q9NXE2	Missense_Mutation	SNP	ENST00000374874.3	37	c.953C>A	CCDS6751.1	.	.	.	.	.	.	.	.	.	.	C	18.65	3.670016	0.67814	.	.	ENSG00000148123	ENST00000374874;ENST00000374871;ENST00000395056	T;T	0.32988	1.43;1.43	5.24	5.24	0.73138	.	0.153934	0.44902	D	0.000401	T	0.50051	0.1593	L	0.54323	1.7	0.80722	D	1	P;D	0.65815	0.877;0.995	B;D	0.72982	0.427;0.979	T	0.30090	-0.9990	10	0.22706	T	0.39	-33.5072	17.8069	0.88604	0.0:1.0:0.0:0.0	.	302;318	B7Z8P4;Q8TBJ4	.;LPPR1_HUMAN	Y	318	ENSP00000364008:S318Y;ENSP00000378496:S318Y	ENSP00000364005:S318Y	S	+	2	0	RP11-35N6.1	103126135	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.013000	0.70776	2.449000	0.82847	0.650000	0.86243	TCT		0.418	LPPR1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053425.1			4	47	1	0	0.0215528	0.217242	0.0228723	4	47					A	104086314	C	A	104086314	3	1	260	1	0	0	0	0	1	0	0	0	8924	913	32	5	979	5	LPPR1	9	104086314	Missense_Mutation	SNP	C	TCGA-HI-7170-01A-11D-2114-08		104086314	37127117	19	12233											
PLCE1	51196	broad.mit.edu	37	chr10	95849072	95849072	+	Intron	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttggctcttcccgctctctgAggtacccaattttaccttgt	5	16	7	13	1	2	1	0	1	2	0	4	1	3	1	3	2	2	3	3	2	3	6			TCGA-HI-7170-01A-11D-2114-08	TCGA-HI-7170-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10812a81-93f3-4eb6-967f-b415d2263f0e	473c4d37-6639-45f0-a67a-8e34049d0b29	g.chr10:95849072A>T	ENST00000371380.3	+	2	1441				PLCE1_ENST00000260766.3_Intron|RP11-429H9.4_ENST00000438899.1_RNA|PLCE1_ENST00000371385.3_Missense_Mutation_p.E74V|PLCE1_ENST00000371375.1_Missense_Mutation_p.E74V			Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1						activation of MAPK activity (GO:0000187)|calcium-mediated signaling (GO:0019722)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|diacylglycerol biosynthetic process (GO:0006651)|epidermal growth factor receptor signaling pathway (GO:0007173)|glomerulus development (GO:0032835)|heart development (GO:0007507)|inositol phosphate metabolic process (GO:0043647)|inositol phosphate-mediated signaling (GO:0048016)|lipid catabolic process (GO:0016042)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|phospholipid metabolic process (GO:0006644)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of GTPase activity (GO:0043547)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|Ras protein signal transduction (GO:0007265)|regulation of cell growth (GO:0001558)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of protein kinase activity (GO:0045859)|regulation of Ras protein signal transduction (GO:0046578)|regulation of smooth muscle contraction (GO:0006940)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|enzyme binding (GO:0019899)|guanyl-nucleotide exchange factor activity (GO:0005085)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|Ras GTPase binding (GO:0017016)|receptor signaling protein activity (GO:0005057)			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				CCGCTCTCTGAGGTACCCAAT	0.512																																						ENST00000371375.1																			0				liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8						c.(220-222)gAg>gTg		phospholipase C, epsilon 1							147	131	136					10																	95849072		1568	3582	5150	SO:0001627	intron_variant	51196				activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction	cytosol|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity	g.chr10:95849072A>T		CCDS41552.1, CCDS53555.1	10q23	2010-02-22			ENSG00000138193	ENSG00000138193	3.1.4.11		17175	protein-coding gene	gene with protein product	"nephrosis type 3"	608414				11022047, 11022048	Standard	NM_016341		Approved	KIAA1516, PLCE, NPHS3	uc001kjk.3	Q9P212	OTTHUMG00000018789	ENST00000371380.3:c.1207-42859A>T	10.37:g.95849072A>T						PLCE1_ENST00000260766.3_Intron|RP11-429H9.4_ENST00000438899.1_RNA|PLCE1_ENST00000371380.2_Intron|PLCE1_ENST00000371385.3_Missense_Mutation_p.E74V	p.E74V			Q9P212	PLCE1_HUMAN			1	221	+		Colorectal(252;0.0458)	0					A6NGW0|A6NLA1|A7MBN7|A8K1D7|B9EIJ6|Q1X6H8|Q5VWL4|Q5VWL5|Q9H9X8|Q9HBX6|Q9HC53|Q9UHV3	Missense_Mutation	SNP	ENST00000371380.3	37	c.221A>T	CCDS41552.1	.	.	.	.	.	.	.	.	.	.	A	8.313	0.822663	0.16678	.	.	ENSG00000138193	ENST00000371385;ENST00000371375	T;T	0.25414	1.8;1.8	5.92	-0.836	0.10770	.	.	.	.	.	T	0.14313	0.0346	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.32508	-0.9904	8	0.62326	D	0.03	.	0.6769	0.00868	0.3451:0.2733:0.2152:0.1664	.	74	Q9P212-2	.	V	74	ENSP00000360438:E74V;ENSP00000360426:E74V	ENSP00000360426:E74V	E	+	2	0	PLCE1	95839062	0.000000	0.05858	0.230000	0.23976	0.844000	0.47949	-0.123000	0.10611	0.035000	0.15519	-0.267000	0.10333	GAG		0.512	PLCE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049469.3	NM_016341		6	79	0	0	0	0.217242	0	6	79					T	95849072	A	T	95849072	1	4	260	0	1	0	0	0	0	0	0	0	12034	304	11	5		5	PLCE1	10	95849072	Intron	SNP	A	TCGA-HI-7170-01A-11D-2114-08		95849072	39685675	20	12234											
ADAM12	8038	broad.mit.edu	37	chr10	128019054	128019054	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cactgacaacttcatcagctCttccttggttccataagctc	9	13	5	14	0	3	1	2	1	1	0	6	1	5	1	2	1	3	3	2	1	2	5			TCGA-HI-7170-01A-11D-2114-08	TCGA-HI-7170-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10812a81-93f3-4eb6-967f-b415d2263f0e	473c4d37-6639-45f0-a67a-8e34049d0b29	g.chr10:128019054C>G	ENST00000368679.4	-	2	422	c.113G>C	c.(112-114)aGa>aCa	p.R38T	ADAM12_ENST00000368676.4_Missense_Mutation_p.R38T	NM_003474.4	NP_003465.3	O43184	ADA12_HUMAN	ADAM metallopeptidase domain 12	38					cell adhesion (GO:0007155)|epidermal growth factor receptor signaling pathway (GO:0007173)|myoblast fusion (GO:0007520)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|SH3 domain binding (GO:0017124)|zinc ion binding (GO:0008270)			biliary_tract(1)|breast(7)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69		all_epithelial(44;7.06e-05)|all_lung(145;0.00563)|Lung NSC(174;0.00834)|Colorectal(57;0.102)|all_neural(114;0.107)|Breast(234;0.22)		COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.216)		TTCATCAGCTCTTCCTTGGTT	0.458																																						ENST00000368679.4																			0				biliary_tract(1)|breast(7)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						c.(112-114)aGa>aCa		ADAM metallopeptidase domain 12							129	130	130					10																	128019054		2203	4300	6503	SO:0001583	missense	8038				cell adhesion|epidermal growth factor receptor signaling pathway|myoblast fusion|proteolysis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|protein binding|SH3 domain binding|zinc ion binding	g.chr10:128019054C>G	AF023476	CCDS7653.1, CCDS7654.1	10q26	2008-07-29	2008-07-29		ENSG00000148848	ENSG00000148848		"ADAM metallopeptidase domain containing"	190	protein-coding gene	gene with protein product	"meltrin alpha"	602714	"a disintegrin and metalloproteinase domain 12 (meltrin alpha)"			9417060, 18342566	Standard	NM_003474		Approved	MCMPMltna, MLTN	uc001ljk.2	O43184	OTTHUMG00000019243	ENST00000368679.4:c.113G>C	10.37:g.128019054C>G	ENSP00000357668:p.Arg38Thr					ADAM12_ENST00000368676.4_Missense_Mutation_p.R38T	p.R38T	NM_003474.4	NP_003465.3	O43184	ADA12_HUMAN		COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.216)	2	422	-		all_epithelial(44;7.06e-05)|all_lung(145;0.00563)|Lung NSC(174;0.00834)|Colorectal(57;0.102)|all_neural(114;0.107)|Breast(234;0.22)	38					O60470|Q5JRP0|Q5JRP1|Q6P9E3|Q6UWB0	Missense_Mutation	SNP	ENST00000368679.4	37	c.113G>C	CCDS7653.1	.	.	.	.	.	.	.	.	.	.	C	4.658	0.122308	0.08931	.	.	ENSG00000148848	ENST00000368679;ENST00000368676;ENST00000448723	T;T;T	0.19938	4.89;2.11;3.83	4.93	1.6	0.23607	.	0.629773	0.12305	U	0.480753	T	0.08403	0.0209	N	0.08118	0	0.09310	N	1	B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0	B;B;B;B;B	0.06405	0.002;0.001;0.001;0.001;0.002	T	0.40421	-0.9564	10	0.14252	T	0.57	.	4.617	0.12432	0.0:0.3183:0.5112:0.1705	.	38;38;38;38;38	A8K6G4;O43184-3;O43184-2;O43184-4;O43184	.;.;.;.;ADA12_HUMAN	T	38	ENSP00000357668:R38T;ENSP00000357665:R38T;ENSP00000391268:R38T	ENSP00000357665:R38T	R	-	2	0	ADAM12	128009044	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.045000	0.14013	0.245000	0.21373	0.655000	0.94253	AGA		0.458	ADAM12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050961.1			20	89	0	0	0	0.639603	0	20	89					G	128019054	C	G	128019054	3	3	260	1	0	0	0	0	1	0	0	0	236	913	32	5	2812	5	ADAM12	10	128019054	Missense_Mutation	SNP	C	TCGA-HI-7170-01A-11D-2114-08	32169982	128019054	7515693	21	12235											
CPSF7	79869	broad.mit.edu	37	chr11	61196740	61196740	+	5'UTR	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagatcgcgagtccggaggaTggacaaagtaaggaagatgc	15	5	15	6	3	0	2	0	0	0	2	2	7	1	6	1	4	1	1	1	4	4	1			TCGA-HI-7170-01A-11D-2114-08	TCGA-HI-7170-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10812a81-93f3-4eb6-967f-b415d2263f0e	473c4d37-6639-45f0-a67a-8e34049d0b29	g.chr11:61196740T>C	ENST00000394888.4	-	0	140				RP11-286N22.8_ENST00000543044.1_5'Flank|SDHAF2_ENST00000543265.1_5'Flank|SDHAF2_ENST00000301761.2_5'Flank|SDHAF2_ENST00000542074.1_5'Flank|CPSF7_ENST00000448745.1_5'UTR|CPSF7_ENST00000340437.4_Missense_Mutation_p.I33V|SDHAF2_ENST00000537782.1_5'Flank|SDHAF2_ENST00000534878.1_5'Flank|CPSF7_ENST00000439958.3_5'UTR|CPSF7_ENST00000541963.1_5'UTR	NM_001136040.2	NP_001129512.1	Q8N684	CPSF7_HUMAN	cleavage and polyadenylation specific factor 7, 59kDa						gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA splicing, via spliceosome (GO:0000398)|protein tetramerization (GO:0051262)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	membrane (GO:0016020)|mRNA cleavage factor complex (GO:0005849)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|skin(2)|upper_aerodigestive_tract(1)	22						GTCCGGAGGATGGACAAAGTA	0.502																																						ENST00000340437.4																			0				breast(3)|central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|skin(2)|upper_aerodigestive_tract(1)	22						c.(97-99)Atc>Gtc		cleavage and polyadenylation specific factor 7, 59kDa							103	100	101					11																	61196740		2202	4299	6501	SO:0001623	5_prime_UTR_variant	79869				mRNA 3'-end processing|nuclear mRNA splicing, via spliceosome|protein tetramerization|termination of RNA polymerase II transcription	mRNA cleavage factor complex	nucleotide binding|protein binding|RNA binding	g.chr11:61196740T>C		CCDS8006.2, CCDS44619.1, CCDS44620.1	11q12.2	2013-06-18			ENSG00000149532	ENSG00000149532		"RNA binding motif (RRM) containing"	30098	protein-coding gene	gene with protein product	"pre mRNA cleavage factor I, 59 kDa subunit", "cleavage factor Im complex 59 kDa subunit"					12477932	Standard	NM_024811		Approved	FLJ12529	uc001nrp.3	Q8N684	OTTHUMG00000168198	ENST00000394888.4:c.-33A>G	11.37:g.61196740T>C						CPSF7_ENST00000439958.3_5'UTR|CPSF7_ENST00000394888.4_5'UTR|CPSF7_ENST00000448745.1_5'UTR|CPSF7_ENST00000541963.1_5'UTR	p.I33V	NM_024811.3	NP_079087.3	Q8N684	CPSF7_HUMAN			2	177	-			0					B3KU04|C9K0Q4|Q7Z3H9|Q9H025|Q9H9V1	Missense_Mutation	SNP	ENST00000394888.4	37	c.97A>G	CCDS44619.1	.	.	.	.	.	.	.	.	.	.	T	11.43	1.635311	0.29068	.	.	ENSG00000149532	ENST00000340437	.	.	.	3.94	-7.87	0.01183	.	.	.	.	.	T	0.19967	0.0480	.	.	.	0.20638	N	0.999873	B	0.02656	0.0	B	0.01281	0.0	T	0.17992	-1.0351	7	0.22109	T	0.4	.	6.3875	0.21569	0.0:0.2411:0.336:0.4228	.	33	Q8N684-3	.	V	33	.	ENSP00000345412:I33V	I	-	1	0	CPSF7	60953316	0.000000	0.05858	0.000000	0.03702	0.505000	0.33919	-1.798000	0.01747	-1.879000	0.01126	0.460000	0.39030	ATC		0.502	CPSF7-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000347835.2	NM_024811		18	61	0	0	0	0.539581	0	18	61					C	61196740	T	C	61196740	1	2	260	0	1	0	0	0	0	0	0	0	3830	1464	51	4		4	CPSF7	11	61196740	5'UTR	SNP	T	TCGA-HI-7170-01A-11D-2114-08		61196740	73809776	22	12236											
PRKAG1	5571	broad.mit.edu	37	chr12	49399105	49399105	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttaccaaggctgatttatagTagcggtgcaggatattgatg	11	13	12	5	1	0	2	0	2	0	0	0	3	0	3	1	3	3	3	1	3	6	7			TCGA-HI-7170-01A-11D-2114-08	TCGA-HI-7170-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10812a81-93f3-4eb6-967f-b415d2263f0e	473c4d37-6639-45f0-a67a-8e34049d0b29	g.chr12:49399105T>C	ENST00000548065.1	-	5	749	c.293A>G	c.(292-294)tAc>tGc	p.Y98C	RP11-386G11.5_ENST00000547395.1_RNA|RP11-386G11.5_ENST00000547866.1_RNA|PRKAG1_ENST00000547306.1_Missense_Mutation_p.Y47C|PRKAG1_ENST00000395170.3_Missense_Mutation_p.Y14C|PRKAG1_ENST00000552212.1_Missense_Mutation_p.Y66C|PRKAG1_ENST00000316299.5_Missense_Mutation_p.Y107C|RP11-386G11.5_ENST00000552284.1_RNA|RP11-386G11.5_ENST00000552933.1_RNA			P54619	AAKG1_HUMAN	protein kinase, AMP-activated, gamma 1 non-catalytic subunit	98	CBS 1. {ECO:0000255|PROSITE- ProRule:PRU00703}.				cell cycle arrest (GO:0007050)|fatty acid biosynthetic process (GO:0006633)|insulin receptor signaling pathway (GO:0008286)|membrane organization (GO:0061024)|positive regulation of gene expression (GO:0010628)|positive regulation of protein kinase activity (GO:0045860)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of glycolytic process (GO:0006110)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)	AMP-activated protein kinase complex (GO:0031588)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	ADP binding (GO:0043531)|AMP binding (GO:0016208)|ATP binding (GO:0005524)|cAMP-dependent protein kinase activity (GO:0004691)|cAMP-dependent protein kinase regulator activity (GO:0008603)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)			cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	9					Acetylsalicylic acid(DB00945)	TGATTTATAGTAGCGGTGCAG	0.478																																						ENST00000548065.1																			0				cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	9						c.(292-294)tAc>tGc		protein kinase, AMP-activated, gamma 1 non-catalytic subunit							127	123	124					12																	49399105		2203	4300	6503	SO:0001583	missense	5571				cell cycle arrest|fatty acid biosynthetic process|insulin receptor signaling pathway|positive regulation of protein kinase activity|regulation of fatty acid oxidation|regulation of glycolysis|spermatogenesis	cytosol	cAMP-dependent protein kinase activity|cAMP-dependent protein kinase regulator activity|protein kinase binding	g.chr12:49399105T>C	U42412	CCDS8777.1, CCDS55824.1, CCDS55825.1	12q12-q14	1998-07-16				ENSG00000181929			9385	protein-coding gene	gene with protein product		602742				8557660, 8621499	Standard	NM_002733		Approved		uc001rsz.3	P54619	OTTHUMG00000170406	ENST00000548065.1:c.293A>G	12.37:g.49399105T>C	ENSP00000447433:p.Tyr98Cys					RP11-386G11.5_ENST00000547866.1_RNA|RP11-386G11.5_ENST00000552284.1_RNA|RP11-386G11.5_ENST00000547395.1_RNA|PRKAG1_ENST00000552212.1_Missense_Mutation_p.Y66C|PRKAG1_ENST00000547306.1_Missense_Mutation_p.Y47C|PRKAG1_ENST00000395170.3_Missense_Mutation_p.Y14C|PRKAG1_ENST00000316299.5_Missense_Mutation_p.Y107C|RP11-386G11.5_ENST00000552933.1_RNA	p.Y98C			P54619	AAKG1_HUMAN			5	749	-			98			CBS 1.		B4DDT7|Q8N7V9	Missense_Mutation	SNP	ENST00000548065.1	37	c.293A>G	CCDS8777.1	.	.	.	.	.	.	.	.	.	.	T	18.41	3.618474	0.66787	.	.	ENSG00000181929	ENST00000395170;ENST00000547306;ENST00000316299;ENST00000548065;ENST00000552212;ENST00000551770;ENST00000551696;ENST00000548950;ENST00000551121;ENST00000552463;ENST00000548857;ENST00000548605;ENST00000547082	D;D;D;D;D;D;D;D;D;D;D;T;D	0.91686	-2.89;-2.89;-2.89;-2.89;-2.89;-2.89;-2.89;-2.89;-2.89;-2.89;-2.89;-1.43;-2.89	6.16	6.16	0.99307	Aldolase-type TIM barrel (1);Cystathionine beta-synthase, core (1);	0.056912	0.64402	N	0.000001	D	0.96062	0.8717	M	0.80332	2.49	0.80722	D	1	D;P;D	0.89917	1.0;0.876;0.993	D;P;D	0.91635	0.999;0.493;0.934	D	0.96080	0.9053	10	0.56958	D	0.05	-12.8029	15.7887	0.78332	0.0:0.0:0.0:1.0	.	98;107;98	B4E094;Q8N7V9;P54619	.;.;AAKG1_HUMAN	C	14;47;107;98;66;73;47;14;66;66;66;14;66	ENSP00000378599:Y14C;ENSP00000448873:Y47C;ENSP00000323867:Y107C;ENSP00000447433:Y98C;ENSP00000448972:Y66C;ENSP00000449121:Y73C;ENSP00000447671:Y47C;ENSP00000450112:Y14C;ENSP00000449637:Y66C;ENSP00000448251:Y66C;ENSP00000448739:Y66C;ENSP00000449104:Y14C;ENSP00000448290:Y66C	ENSP00000323867:Y107C	Y	-	2	0	PRKAG1	47685372	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.905000	0.87416	2.367000	0.80283	0.528000	0.53228	TAC		0.478	PRKAG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408946.1	NM_002733		26	80	0	0	0	0.769981	0	26	80					C	49399105	T	C	49399105	3	2	260	1	0	0	0	0	1	0	0	0	12500	1638	57	4	734	4	PRKAG1	12	49399105	Missense_Mutation	SNP	T	TCGA-HI-7170-01A-11D-2114-08		49399105	84452790	23	12237											
MLL2	8085	broad.mit.edu	37	chr12	49437439	49437440	+	Frame_Shift_Ins	INS	-	-	A																															ttctgcgatgtggggagttcINScttcctttctgagcctccat																										TCGA-HI-7170-01A-11D-2114-08	TCGA-HI-7170-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10812a81-93f3-4eb6-967f-b415d2263f0e	473c4d37-6639-45f0-a67a-8e34049d0b29	g.chr12:49437439_49437440insA	ENST00000301067.7	-	23	5444_5445	c.5445_5446insT	c.(5443-5448)aaggaafs	p.E1816fs		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	1816					chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)										GTGGGGAGTTCCTTCCTTTCTG	0.525											OREG0021780	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000301067.7																			0											c.(5443-5448)aaaactfs		lysine (K)-specific methyltransferase 2D																																				SO:0001589	frameshift_variant	8085							g.chr12:49437439_49437440insA	AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	7133	protein-coding gene	gene with protein product		602113	"trinucleotide repeat containing 21", "myeloid/lymphoid or mixed-lineage leukemia 2"	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.5445_5446insT	12.37:g.49437439_49437440insA	ENSP00000301067:p.Glu1816fs		OREG0021780	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	962		p.KT1815fs	NM_003482.3	NP_003473.3					23	5444_5445	-								O14687	Frame_Shift_Ins	INS	ENST00000301067.7	37	c.5445_5446insT	CCDS44873.1																																																																																				0.525	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2			13	45						13	45	---	---	---	---	A	49437440	-	A	49437439	7	5	260	1	0	1	1	0	0	0	0	0	9621	864	30	0	11295	0	MLL2	12	49437439	Frame_Shift_Ins	INS	-	TCGA-HI-7170-01A-11D-2114-08	38334	49437439	84414456	24	12238											
POMP	51371	broad.mit.edu	37	chr13	29242675	29242675	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	attcagggtctatttgctccGctaaaattacagatggaatt	12	14	8	7	1	2	1	1	0	1	1	3	2	3	2	1	2	2	2	1	2	5	6	rs374762257		TCGA-HI-7170-01A-11D-2114-08	TCGA-HI-7170-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10812a81-93f3-4eb6-967f-b415d2263f0e	473c4d37-6639-45f0-a67a-8e34049d0b29	g.chr13:29242675G>A	ENST00000380842.4	+	4	309	c.228G>A	c.(226-228)ccG>ccA	p.P76P	POMP_ENST00000460403.1_3'UTR	NM_015932.5	NP_057016.1	Q9Y244	POMP_HUMAN	proteasome maturation protein	76					proteasome assembly (GO:0043248)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleus (GO:0005634)|proteasome complex (GO:0000502)				endometrium(2)|kidney(1)|large_intestine(1)	4		Lung SC(185;0.0367)		all cancers(112;0.141)|OV - Ovarian serous cystadenocarcinoma(117;0.216)		TATTTGCTCCGCTAAAATTAC	0.368													A|||	1	0.000199681	0	0	5008	,	,		17831	0.001		0	False		,,,				2504	0					ENST00000380842.4																			0				endometrium(2)|kidney(1)|large_intestine(1)	4						c.(226-228)ccG>ccA		proteasome maturation protein		A		1,4405	825.8+/-416.5	0,1,2202	111	104	106		228	-4.5	0.6	13		106	0,8600		0,0,4300	no	coding-synonymous	POMP	NM_015932.5		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		76/142	29242675	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	51371				proteasome assembly	cytosol|endoplasmic reticulum|membrane|microsome|nucleus|proteasome complex		g.chr13:29242675G>A	AF077200	CCDS9331.1	13q12.13	2013-11-11	2006-07-04	2006-07-04	ENSG00000132963	ENSG00000132963			20330	protein-coding gene	gene with protein product	"proteassemblin"	613386	"chromosome 13 open reading frame 12"	C13orf12		11042152	Standard	NM_015932		Approved	HSPC014, UMP1	uc001usf.3	Q9Y244	OTTHUMG00000016652	ENST00000380842.4:c.228G>A	13.37:g.29242675G>A						POMP_ENST00000460403.1_3'UTR	p.P76P	NM_015932.5	NP_057016.1	Q9Y244	POMP_HUMAN		all cancers(112;0.141)|OV - Ovarian serous cystadenocarcinoma(117;0.216)	4	309	+		Lung SC(185;0.0367)	76					A5HKJ2|D6MXU3|Q9HB69	Silent	SNP	ENST00000380842.4	37	c.228G>A	CCDS9331.1																																																																																				0.368	POMP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044327.1	NM_015932		17	59	0	0	0	0.592651	0	17	59					A	29242675	G	A	29242675	2	1	260	1	0	0	0	0	0	0	0	1	12244	1074	38	1		1	POMP	13	29242675	Silent	SNP	G	TCGA-HI-7170-01A-11D-2114-08		29242675	85927203	25	12239											
RPGRIP1	57096	broad.mit.edu	37	chr14	21790127	21790127	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ataaccgtatcaagcagctgGaaggtattttaagaagccat	15	10	9	7	1	1	1	1	0	0	1	1	2	1	2	2	2	4	4	2	2	7	5			TCGA-HI-7170-01A-11D-2114-08	TCGA-HI-7170-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10812a81-93f3-4eb6-967f-b415d2263f0e	473c4d37-6639-45f0-a67a-8e34049d0b29	g.chr14:21790127G>T	ENST00000400017.2	+	13	1726	c.1726G>T	c.(1726-1728)Gaa>Taa	p.E576*	RPGRIP1_ENST00000206660.6_Nonsense_Mutation_p.E576*|RPGRIP1_ENST00000307974.4_5'Flank|RPGRIP1_ENST00000382933.4_Nonsense_Mutation_p.E218*|RPGRIP1_ENST00000556336.1_Nonsense_Mutation_p.E549*|RPGRIP1_ENST00000557771.1_Nonsense_Mutation_p.E549*|RPGRIP1_ENST00000553500.1_3'UTR	NM_020366.3	NP_065099.3	Q96KN7	RPGR1_HUMAN	retinitis pigmentosa GTPase regulator interacting protein 1	576					eye photoreceptor cell development (GO:0042462)|response to stimulus (GO:0050896)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	axoneme (GO:0005930)|nonmotile primary cilium (GO:0031513)				breast(3)|endometrium(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(4)|pancreas(1)|prostate(3)|stomach(1)	39	all_cancers(95;0.0017)	all_cancers(140;0.0973)	Epithelial(56;6.24e-07)|all cancers(55;6.56e-06)	GBM - Glioblastoma multiforme(265;0.00888)		CAAGCAGCTGGAAGGTATTTT	0.443																																						ENST00000206660.6																			0				breast(3)|endometrium(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(4)|pancreas(1)|prostate(3)|stomach(1)	39						c.(1726-1728)Gaa>Taa		retinitis pigmentosa GTPase regulator interacting protein 1							87	84	85					14																	21790127		1893	4119	6012	SO:0001587	stop_gained	57096				response to stimulus|visual perception	cilium		g.chr14:21790127G>T	AF227257	CCDS45080.1	14q11.2	2013-06-06			ENSG00000092200	ENSG00000092200			13436	protein-coding gene	gene with protein product		605446		RPGRIP		10958647, 10958648	Standard	NM_020366		Approved	RGI1, LCA6, CORD13	uc001wag.3	Q96KN7	OTTHUMG00000170758	ENST00000400017.2:c.1726G>T	14.37:g.21790127G>T	ENSP00000382895:p.Glu576*					RPGRIP1_ENST00000400017.2_Nonsense_Mutation_p.E576*|RPGRIP1_ENST00000553500.1_3'UTR|RPGRIP1_ENST00000382933.4_Nonsense_Mutation_p.E218*|RPGRIP1_ENST00000557771.1_Nonsense_Mutation_p.E549*|RPGRIP1_ENST00000556336.1_Nonsense_Mutation_p.E549*	p.E576*			Q96KN7	RPGR1_HUMAN	Epithelial(56;6.24e-07)|all cancers(55;6.56e-06)	GBM - Glioblastoma multiforme(265;0.00888)	13	1726	+	all_cancers(95;0.0017)	all_cancers(140;0.0973)	576					Q7Z2W6|Q8IXV5|Q96QA8|Q9HB94|Q9HB95|Q9HBK6|Q9NR40	Nonsense_Mutation	SNP	ENST00000400017.2	37	c.1726G>T	CCDS45080.1	.	.	.	.	.	.	.	.	.	.	G	38	7.280607	0.98182	.	.	ENSG00000092200	ENST00000556336;ENST00000557771;ENST00000400017;ENST00000206660;ENST00000382933;ENST00000555587;ENST00000554303	.	.	.	4.58	4.58	0.56647	.	0.059512	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	-22.6075	16.6482	0.85182	0.0:0.0:1.0:0.0	.	.	.	.	X	549;549;576;576;218;51;49	.	ENSP00000206660:E576X	E	+	1	0	RPGRIP1	20859967	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	7.628000	0.83189	2.538000	0.85594	0.305000	0.20034	GAA		0.443	RPGRIP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410258.1	NM_020366		5	26	1	0	0.000157383	0.27861	0.000181865	5	26					T	21790127	G	T	21790127	4	4	260	1	0	0	0	0	0	1	0	0	13549	1175	41	5	1776	5	RPGRIP1	14	21790127	Nonsense_Mutation	SNP	G	TCGA-HI-7170-01A-11D-2114-08		21790127	85559413	26	12240											
NYNRIN	57523	broad.mit.edu	37	chr14	24884617	24884617	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggccctcaagcatttttcccGctgcattggagacaccccgg	7	9	10	15	2	1	1	1	0	0	1	2	2	2	1	4	3	2	3	4	3	1	3			TCGA-HI-7170-01A-11D-2114-08	TCGA-HI-7170-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10812a81-93f3-4eb6-967f-b415d2263f0e	473c4d37-6639-45f0-a67a-8e34049d0b29	g.chr14:24884617G>A	ENST00000382554.3	+	9	3980	c.3662G>A	c.(3661-3663)cGc>cAc	p.R1221H		NM_025081.2	NP_079357.2	Q9P2P1	NYNRI_HUMAN	NYN domain and retroviral integrase containing	1221					DNA integration (GO:0015074)	integral component of membrane (GO:0016021)	nucleic acid binding (GO:0003676)			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						CATTTTTCCCGCTGCATTGGA	0.632																																						ENST00000382554.3																			0				breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						c.(3661-3663)cGc>cAc		NYN domain and retroviral integrase containing							51	54	53					14																	24884617		1888	4107	5995	SO:0001583	missense	57523				DNA integration	integral to membrane	DNA binding	g.chr14:24884617G>A	AB037726	CCDS45090.1	14q11.2	2009-10-14	2009-10-14	2009-10-14		ENSG00000205978			20165	protein-coding gene	gene with protein product	"Cousin of GIN1"		"KIAA1305"	KIAA1305		19561090, 17114934	Standard	NM_025081		Approved	FLJ11811, CGIN1	uc001wpf.4	Q9P2P1		ENST00000382554.3:c.3662G>A	14.37:g.24884617G>A	ENSP00000371994:p.Arg1221His						p.R1221H	NM_025081.2	NP_079357.2	Q9P2P1	NYNRI_HUMAN			9	3980	+			1221					Q6P153|Q86TR3|Q9HAC4	Missense_Mutation	SNP	ENST00000382554.3	37	c.3662G>A	CCDS45090.1	.	.	.	.	.	.	.	.	.	.	G	10.33	1.319273	0.23994	.	.	ENSG00000205978	ENST00000382554	T	0.39406	1.08	4.78	1.8	0.24995	.	.	.	.	.	T	0.22475	0.0542	N	0.19112	0.55	0.24952	N	0.991786	B	0.12630	0.006	B	0.06405	0.002	T	0.20306	-1.0279	9	0.20046	T	0.44	.	4.1438	0.10207	0.3:0.1871:0.5129:0.0	.	1221	Q9P2P1	NYNRI_HUMAN	H	1221	ENSP00000371994:R1221H	ENSP00000371994:R1221H	R	+	2	0	NYNRIN	23954457	0.785000	0.28726	0.998000	0.56505	0.890000	0.51754	1.780000	0.38634	0.619000	0.30197	-0.150000	0.13652	CGC		0.632	NYNRIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412939.1			4	46	0	0	0	0.184627	0	4	46					A	24884617	G	A	24884617	3	1	260	1	0	0	0	0	1	0	0	0	10796	1087	38	1	3692	1	NYNRIN	14	24884617	Missense_Mutation	SNP	G	TCGA-HI-7170-01A-11D-2114-08	3094490	24884617	82464923	27	12241											
ANKRD11	29123	broad.mit.edu	37	chr16	89349914	89349916	+	In_Frame_Del	DEL	CTT	CTT	-																															ctttccttatcggggccatcCttcttctccttctctcgtgc																								rs561419089		TCGA-HI-7170-01A-11D-2114-08	TCGA-HI-7170-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10812a81-93f3-4eb6-967f-b415d2263f0e	473c4d37-6639-45f0-a67a-8e34049d0b29	g.chr16:89349914_89349916delCTT	ENST00000301030.4	-	9	3494_3496	c.3034_3036delAAG	c.(3034-3036)aagdel	p.K1012del	ANKRD11_ENST00000378330.2_In_Frame_Del_p.K1012del	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	1012	Lys-rich.				bone development (GO:0060348)|face morphogenesis (GO:0060325)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|odontogenesis of dentin-containing tooth (GO:0042475)|skeletal system morphogenesis (GO:0048705)|tissue homeostasis (GO:0001894)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		CGGGGCCATCCTTCTTCTCCTTC	0.512																																						ENST00000301030.4																			0				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83						c.(3034-3036)del		ankyrin repeat domain 11																																				SO:0001651	inframe_deletion	29123					nucleus		g.chr16:89349914_89349916delCTT	AY373756	CCDS32513.1	16q24.3	2013-01-10				ENSG00000167522		"Ankyrin repeat domain containing"	21316	protein-coding gene	gene with protein product		611192				11483580	Standard	NM_001256182		Approved	LZ16, T13	uc002fnc.2	Q6UB99		ENST00000301030.4:c.3034_3036delAAG	16.37:g.89349917_89349919delCTT	ENSP00000301030:p.Lys1012del					ANKRD11_ENST00000378330.2_In_Frame_Del_p.K1012del	p.K1012del	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)	9	3494_3496	-		all_hematologic(23;0.00824)|Colorectal(91;0.0475)	1012			Lys-rich.		Q6NTG1|Q6QMF8	In_Frame_Del	DEL	ENST00000301030.4	37	c.3034_3036delAAG	CCDS32513.1																																																																																				0.512	ANKRD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430462.3	NM_013275		27	94						27	94	---	---	---	---	-	89349916	CTT	-	89349914	7	5	260	1	0	1	0	1	0	0	0	0	639	680	24	0	4975	0	ANKRD11	16	89349914	In_Frame_Del	DEL	CTT	TCGA-HI-7170-01A-11D-2114-08		89349914	1004839	28	12242											
RICH2	9912	broad.mit.edu	37	chr17	12847399	12847399	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccctcagaggcctgggtagaGaagccttccttcgggaagcc	8	7	13	13	1	1	2	1	0	0	2	3	4	2	3	5	3	2	1	5	3	3	3			TCGA-HI-7170-01A-11D-2114-08	TCGA-HI-7170-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10812a81-93f3-4eb6-967f-b415d2263f0e	473c4d37-6639-45f0-a67a-8e34049d0b29	g.chr17:12847399G>A	ENST00000379672.5	+	10	1047	c.747G>A	c.(745-747)gaG>gaA	p.E249E	ARHGAP44_ENST00000340825.3_Silent_p.E249E|ARHGAP44_ENST00000262444.9_Silent_p.E249E	NM_014859.4	NP_055674.4	Q17R89	RHG44_HUMAN	Rho GTPase activating protein 44	249	BAR. {ECO:0000255|PROSITE- ProRule:PRU00361}.				exocytosis (GO:0006887)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytosol (GO:0005829)|endosome (GO:0005768)|leading edge membrane (GO:0031256)|synapse (GO:0045202)	GTPase activator activity (GO:0005096)|phospholipid binding (GO:0005543)			NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(7)|skin(1)|urinary_tract(1)	31						CCTGGGTAGAGAAGCCTTCCT	0.572																																						ENST00000379672.5																			0				NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(7)|skin(1)|urinary_tract(1)	31						c.(745-747)gaG>gaA		Rho GTPase activating protein 44							27	33	31					17																	12847399		1987	4174	6161	SO:0001819	synonymous_variant	9912				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	g.chr17:12847399G>A		CCDS45616.1	17p12	2011-06-29			ENSG00000006740	ENSG00000006740		"Rho GTPase activating proteins"	29096	protein-coding gene	gene with protein product						19273615	Standard	NM_014859		Approved	KIAA0672, RICH-2, RICH2	uc002gnr.4	Q17R89	OTTHUMG00000058765	ENST00000379672.5:c.747G>A	17.37:g.12847399G>A						ARHGAP44_ENST00000262444.9_Silent_p.E249E|ARHGAP44_ENST00000340825.3_Silent_p.E249E	p.E249E	NM_014859.4	NP_055674.4	Q17R89	RHG44_HUMAN			10	1047	+			249			BAR.		A6NCP5|A8MQB2|O75160|Q7Z5Z7|Q9Y4Q4	Silent	SNP	ENST00000379672.5	37	c.747G>A	CCDS45616.1																																																																																				0.572	ARHGAP44-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000441566.1	NM_014859		3	13	0	0	0	0.115264	0	3	13					A	12847399	G	A	12847399	2	1	260	1	0	0	0	0	0	0	0	1	13357	933	33	3		3	RICH2	17	12847399	Silent	SNP	G	TCGA-HI-7170-01A-11D-2114-08		12847399	68347811	29	12243											
ANKLE1	126549	broad.mit.edu	37	chr19	17394284	17394284	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggacccagcctcggacacTcccccctgggctgggtcatt	6	7	12	16	1	1	0	1	0	0	0	3	3	2	2	5	4	1	1	5	4	0	1			TCGA-HI-7170-01A-11D-2114-08	TCGA-HI-7170-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10812a81-93f3-4eb6-967f-b415d2263f0e	473c4d37-6639-45f0-a67a-8e34049d0b29	g.chr19:17394284T>C	ENST00000394458.3	+	5	987	c.711T>C	c.(709-711)acT>acC	p.T237T	ANKLE1_ENST00000594072.1_Silent_p.T226T|ANKLE1_ENST00000404085.1_Silent_p.T259T|ANKLE1_ENST00000433424.2_Silent_p.T291T|ANKLE1_ENST00000598347.1_Silent_p.T237T	NM_152363.4	NP_689576	Q8NAG6	ANKL1_HUMAN	ankyrin repeat and LEM domain containing 1	237										large_intestine(1)|lung(3)|prostate(1)|skin(1)|urinary_tract(1)	7						CCTCGGACACTCCCCCCTGGG	0.632																																						ENST00000394458.3																			0				large_intestine(1)|lung(3)|prostate(1)|skin(1)|urinary_tract(1)	7						c.(709-711)acT>acC		ankyrin repeat and LEM domain containing 1							53	58	56					19																	17394284		2203	4300	6503	SO:0001819	synonymous_variant	126549					nuclear envelope		g.chr19:17394284T>C	AK096688	CCDS12354.2, CCDS12354.3	19p13.11	2013-01-10	2008-03-25	2008-03-25	ENSG00000160117	ENSG00000160117		"Ankyrin repeat domain containing"	26812	protein-coding gene	gene with protein product	"LEM domain containing 6"		"ankyrin repeat domain 41"	ANKRD41			Standard	NM_152363		Approved	FLJ39369, LEMD6	uc002nga.2	Q8NAG6	OTTHUMG00000150839	ENST00000394458.3:c.711T>C	19.37:g.17394284T>C						ANKLE1_ENST00000594072.1_Silent_p.T226T|ANKLE1_ENST00000433424.2_Silent_p.T291T|ANKLE1_ENST00000404085.1_Silent_p.T259T|ANKLE1_ENST00000598347.1_Silent_p.T237T	p.T237T	NM_152363.4	NP_689576.4	Q8NAG6	ANKL1_HUMAN			5	987	+			237					A8VU82|Q8N8J8	Silent	SNP	ENST00000394458.3	37	c.711T>C	CCDS12354.2																																																																																				0.632	ANKLE1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000325392.2	NM_152363		3	64	0	0	0	0.115264	0	3	64					C	17394284	T	C	17394284	2	2	260	1	0	0	0	0	0	0	0	1	632	1538	54	4		4	ANKLE1	19	17394284	Silent	SNP	T	TCGA-HI-7170-01A-11D-2114-08		17394284	41734699	30	12244											
VASP	7408	broad.mit.edu	37	chr19	46020999	46020999	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgatggctccctgctggcacGggtccccaggccttcagccg	4	7	13	17	3	1	0	1	0	0	0	3	1	3	0	5	4	2	3	5	4	0	1	rs373932046		TCGA-HI-7170-01A-11D-2114-08	TCGA-HI-7170-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10812a81-93f3-4eb6-967f-b415d2263f0e	473c4d37-6639-45f0-a67a-8e34049d0b29	g.chr19:46020999G>T	ENST00000245932.6	+	2	440	c.84G>T	c.(82-84)acG>acT	p.T28T	VASP_ENST00000586619.1_3'UTR	NM_003370.3	NP_003361.1	P50552	VASP_HUMAN	vasodilator-stimulated phosphoprotein	28	WH1. {ECO:0000255|PROSITE- ProRule:PRU00410}.				actin polymerization or depolymerization (GO:0008154)|axon guidance (GO:0007411)|cell junction assembly (GO:0034329)|neural tube closure (GO:0001843)|positive regulation of actin filament polymerization (GO:0030838)|protein homotetramerization (GO:0051289)|T cell receptor signaling pathway (GO:0050852)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	profilin binding (GO:0005522)			endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|skin(2)	18		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0145)|GBM - Glioblastoma multiforme(486;0.154)		CTGCTGGCACGGGTCCCCAGG	0.627																																						ENST00000245932.6																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|skin(2)	18						c.(82-84)acG>acT		vasodilator-stimulated phosphoprotein							74	57	62					19																	46020999		2203	4300	6503	SO:0001819	synonymous_variant	7408				axon guidance|cell junction assembly|T cell receptor signaling pathway	actin cytoskeleton|cytosol|filopodium membrane|focal adhesion|lamellipodium membrane	actin binding|profilin binding|SH3 domain binding	g.chr19:46020999G>T		CCDS33051.1	19q13.32	2012-02-22			ENSG00000125753	ENSG00000125753			12652	protein-coding gene	gene with protein product		601703				8812448	Standard	XM_005259199		Approved		uc002pcg.3	P50552		ENST00000245932.6:c.84G>T	19.37:g.46020999G>T						VASP_ENST00000586619.1_3'UTR	p.T28T	NM_003370.3	NP_003361.1	P50552	VASP_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0145)|GBM - Glioblastoma multiforme(486;0.154)	2	440	+		Ovarian(192;0.051)|all_neural(266;0.112)	28			WH1.		B2RBT9|Q6PIZ1|Q93035	Silent	SNP	ENST00000245932.6	37	c.84G>T	CCDS33051.1																																																																																				0.627	VASP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459589.1			3	72	1	0	0.115264	0.115264	0.119875	3	72					T	46020999	G	T	46020999	2	4	260	1	0	0	0	0	0	0	0	1	17125	1103	39	5		5	VASP	19	46020999	Silent	SNP	G	TCGA-HI-7170-01A-11D-2114-08	28626715	46020999	13107984	31	12245											
PRR12	57479	broad.mit.edu	37	chr19	50102809	50102809	+	Frame_Shift_Del	DEL	G	G	-																															gccaccctctgtgccagcccGaggcctgcagccccagcccc																										TCGA-HI-7170-01A-11D-2114-08	TCGA-HI-7170-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10812a81-93f3-4eb6-967f-b415d2263f0e	473c4d37-6639-45f0-a67a-8e34049d0b29	g.chr19:50102809delG	ENST00000418929.2	+	5	3971	c.3959delG	c.(3958-3960)cgafs	p.R1320fs		NM_020719.1	NP_065770.1	Q9ULL5	PRR12_HUMAN	proline rich 12	0							DNA binding (GO:0003677)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1)|prostate(2)	11		all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132)		GTGCCAGCCCGAGGCCTGCAG	0.692																																						ENST00000418929.2																			0				NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1)|prostate(2)	11						c.(3958-3960)cafs		proline rich 12							10	12	11					19																	50102809		1979	4147	6126	SO:0001589	frameshift_variant	57479						DNA binding	g.chr19:50102809delG	AB033031	CCDS46143.1	19q13.33	2008-07-02	2006-02-06	2006-02-06		ENSG00000126464			29217	protein-coding gene	gene with protein product			"KIAA1205"	KIAA1205		10574462	Standard	NM_020719		Approved		uc002poo.4	Q9ULL5		ENST00000418929.2:c.3959delG	19.37:g.50102809delG	ENSP00000394510:p.Arg1320fs						p.R1320fs	NM_020719.1	NP_065770.1	Q9ULL5	PRR12_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132)	5	3971	+		all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887)	499					E9PB06|Q8N4J6	Frame_Shift_Del	DEL	ENST00000418929.2	37	c.3959delG	CCDS46143.1																																																																																				0.692	PRR12-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465915.1	NM_020719		2	4						2	4	---	---	---	---	-	50102809	G	-	50102809	7	5	260	1	0	1	0	1	0	0	0	0	12584	1058	37	0	3977	0	PRR12	19	50102809	Frame_Shift_Del	DEL	G	TCGA-HI-7170-01A-11D-2114-08	4081810	50102809	9026174	32	12246											
CENPB	1059	broad.mit.edu	37	chr20	3766889	3766889	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgctggaaccaggcgatgAgcaagccctcgagcttgtcg	8	8	13	12	3	1	1	0	1	1	0	3	4	1	2	2	2	5	3	2	2	2	1			TCGA-HI-7170-01A-11D-2114-08	TCGA-HI-7170-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10812a81-93f3-4eb6-967f-b415d2263f0e	473c4d37-6639-45f0-a67a-8e34049d0b29	g.chr20:3766889A>T	ENST00000379751.4	-	1	448	c.242T>A	c.(241-243)cTc>cAc	p.L81H	CDC25B_ENST00000344256.6_5'Flank|CDC25B_ENST00000379598.5_5'Flank	NM_001810.5	NP_001801.1	P07199	CENPB_HUMAN	centromere protein B, 80kDa	81	HTH CENPB-type. {ECO:0000255|PROSITE- ProRule:PRU00583}.				regulation of transcription, DNA-templated (GO:0006355)	chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|nucleus (GO:0005634)	centromeric DNA binding (GO:0019237)|chromatin binding (GO:0003682)|satellite DNA binding (GO:0003696)|sequence-specific DNA binding (GO:0043565)			kidney(1)|large_intestine(2)|lung(4)|skin(1)	8						CCAGGCGATGAGCAAGCCCTC	0.652																																						ENST00000379751.4																			0				kidney(1)|large_intestine(2)|lung(4)|skin(1)	8						c.(241-243)cTc>cAc		centromere protein B, 80kDa							70	67	68					20																	3766889		2203	4300	6503	SO:0001583	missense	1059				regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	chromatin binding|satellite DNA binding	g.chr20:3766889A>T	X05299	CCDS13064.1	20p13	2013-11-05	2002-08-29		ENSG00000125817	ENSG00000125817			1852	protein-coding gene	gene with protein product		117140	"centromere protein B (80kD)"			8406460, 11884609	Standard	NM_001810		Approved		uc002wjk.3	P07199	OTTHUMG00000031761	ENST00000379751.4:c.242T>A	20.37:g.3766889A>T	ENSP00000369075:p.Leu81His						p.L81H	NM_001810.5	NP_001801.1	P07199	CENPB_HUMAN			1	448	-			81			HTH CENPB-type.		Q96EI4	Missense_Mutation	SNP	ENST00000379751.4	37	c.242T>A	CCDS13064.1	.	.	.	.	.	.	.	.	.	.	a	15.87	2.960221	0.53400	.	.	ENSG00000125817	ENST00000379751	T	0.33865	1.39	3.28	2.12	0.27331	Homeodomain-related (1);Pogo transposase / Cenp-B / PDC2, DNA-binding HTH domain (3);Homeodomain-like (1);	0.000000	0.30830	U	0.008786	T	0.63780	0.2540	H	0.94345	3.525	0.29147	N	0.878633	D	0.89917	1.0	D	0.91635	0.999	T	0.60424	-0.7266	10	0.87932	D	0	.	5.3106	0.15828	0.7376:0.0:0.2624:0.0	.	81	P07199	CENPB_HUMAN	H	81	ENSP00000369075:L81H	ENSP00000369075:L81H	L	-	2	0	CENPB	3714889	1.000000	0.71417	0.998000	0.56505	0.699000	0.40488	1.039000	0.30266	0.173000	0.19788	0.149000	0.16113	CTC		0.652	CENPB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077772.2	NM_001810		21	44	0	0	0	0.681144	0	21	44					T	3766889	A	T	3766889	3	4	260	1	0	0	0	0	1	0	0	0	3227	304	11	5	1561	5	CENPB	20	3766889	Missense_Mutation	SNP	A	TCGA-HI-7170-01A-11D-2114-08		3766889	59258631	33	12247											
ZRSR2	8233	broad.mit.edu	37	chrX	15809137	15809137	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgctcgactgagagactcagGtgatggactctttattctgt	8	14	11	8	1	3	3	1	2	2	1	4	6	3	4	0	2	1	1	0	2	1	3			TCGA-HI-7170-01A-11D-2114-08	TCGA-HI-7170-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10812a81-93f3-4eb6-967f-b415d2263f0e	473c4d37-6639-45f0-a67a-8e34049d0b29	g.chrX:15809137G>T	ENST00000307771.7	+	2	145		c.e2+1		ZRSR2_ENST00000468028.1_Splice_Site|ZRSR2_ENST00000380308.3_Splice_Site	NM_005089.3	NP_005080.1	Q15696	U2AFM_HUMAN	zinc finger (CCCH type), RNA-binding motif and serine/arginine rich 2						mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|spliceosomal complex assembly (GO:0000245)	U12-type spliceosomal complex (GO:0005689)	metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)|pre-mRNA 3'-splice site binding (GO:0030628)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(38)|kidney(1)|large_intestine(2)|ovary(2)	48	Hepatocellular(33;0.183)					AGAGACTCAGGTGATGGACTC	0.458			"F, S, Mis"		"MDS, CLL"																																NSCLC(197;1631 3042 5741 31152)	ENST00000307771.7				Rec	yes		X	Xp22.1	8233	"F, S, Mis"	"zinc finger (CCCH type), RNA-binding motif and serine/arginine rich 2"			L			"MDS, CLL"		0				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(38)|kidney(1)|large_intestine(2)|ovary(2)	48						c.e2+1		zinc finger (CCCH type), RNA-binding motif and serine/arginine rich 2							74	66	69					X																	15809137		2203	4300	6503	SO:0001630	splice_region_variant	8233				spliceosome assembly	U12-type spliceosomal complex	nucleotide binding|pre-mRNA 3'-splice site binding|protein binding|zinc ion binding	g.chrX:15809137G>T	BC050451	CCDS14172.1	Xp22.1	2014-09-17	2006-09-26	2006-09-26	ENSG00000169249	ENSG00000169249		"Zinc fingers, CCCH-type domain containing", "RNA binding motif (RRM) containing"	23019	protein-coding gene	gene with protein product		300028	"U2(RNU2) small nuclear RNA auxiliary factor 1-like 2", "U2 small nuclear RNA auxiliary factor 1-like 2"	U2AF1L2		8586425, 9237760, 15146077	Standard	NM_005089		Approved	U2AF1-RS2, URP	uc004cxg.4	Q15696	OTTHUMG00000021184	ENST00000307771.7:c.121+1G>T	X.37:g.15809137G>T						ZRSR2_ENST00000468028.1_Splice_Site|ZRSR2_ENST00000380308.3_Splice_Site		NM_005089.3	NP_005080.1	Q15696	U2AFM_HUMAN			2	145	+	Hepatocellular(33;0.183)							Q14D69	Splice_Site	SNP	ENST00000307771.7	37		CCDS14172.1	.	.	.	.	.	.	.	.	.	.	G	16.70	3.195344	0.58126	.	.	ENSG00000169249	ENST00000307771;ENST00000380308	.	.	.	4.79	4.79	0.61399	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.6035	0.56511	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ZRSR2	15719058	1.000000	0.71417	0.969000	0.41365	0.750000	0.42670	3.134000	0.50538	2.116000	0.64780	0.429000	0.28392	.		0.458	ZRSR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055889.1	NM_005089	Intron	6	13	1	0	0.000157383	0.27861	0.000181865	6	13					T	15809137	G	T	15809137	5	4	260	1	0	0	0	0	0	0	1	0	18222	1275	44	5	128	5	ZRSR2	23	15809137	Splice_Site	SNP	G	TCGA-HI-7170-01A-11D-2114-08		15809137	139461423	34	12248											
SAGE1	55511	broad.mit.edu	37	chrX	134988581	134988581	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtttccagatgctacagtcActcacaatgtctgtgaacag	11	11	9	10	0	3	2	2	1	1	1	4	2	4	2	1	1	3	2	1	1	3	2	rs145404090	byFrequency	TCGA-HI-7170-01A-11D-2114-08	TCGA-HI-7170-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10812a81-93f3-4eb6-967f-b415d2263f0e	473c4d37-6639-45f0-a67a-8e34049d0b29	g.chrX:134988581A>C	ENST00000370709.3	+	6	607	c.607A>C	c.(607-609)Act>Cct	p.T203P	SAGE1_ENST00000324447.3_Missense_Mutation_p.T203P|SAGE1_ENST00000537770.1_Intron|SAGE1_ENST00000535938.1_Missense_Mutation_p.T203P			Q9NXZ1	SAGE1_HUMAN	sarcoma antigen 1	203						nucleus (GO:0005634)				breast(5)|endometrium(5)|large_intestine(10)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	55	Acute lymphoblastic leukemia(192;0.000127)					TGCTACAGTCACTCACAATGT	0.443																																						ENST00000535938.1																			0				breast(5)|endometrium(5)|large_intestine(10)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	55						c.(607-609)Act>Cct		sarcoma antigen 1							162	141	148					X																	134988581		2203	4300	6503	SO:0001583	missense	55511							g.chrX:134988581A>C	AJ278111	CCDS14652.1	Xq26	2009-03-25			ENSG00000181433	ENSG00000181433			30369	protein-coding gene	gene with protein product	"cancer/testis antigen 14"	300359				10919659	Standard	NM_018666		Approved	SAGE, CT14	uc004ezh.3	Q9NXZ1	OTTHUMG00000022496	ENST00000370709.3:c.607A>C	X.37:g.134988581A>C	ENSP00000359743:p.Thr203Pro					SAGE1_ENST00000370709.3_Missense_Mutation_p.T203P|SAGE1_ENST00000324447.3_Missense_Mutation_p.T203P|SAGE1_ENST00000537770.1_Intron	p.T203P	NM_018666.2	NP_061136.2	Q9NXZ1	SAGE1_HUMAN			7	774	+	Acute lymphoblastic leukemia(192;0.000127)		203					Q5JNW0	Missense_Mutation	SNP	ENST00000370709.3	37	c.607A>C	CCDS14652.1	.	.	.	.	.	.	.	.	.	.	A	12.09	1.834351	0.32421	.	.	ENSG00000181433	ENST00000324447;ENST00000535938;ENST00000370709	T;T;T	0.39056	1.1;1.1;1.1	1.34	1.34	0.21922	.	0.486350	0.16946	U	0.193100	T	0.45337	0.1337	L	0.34521	1.04	0.09310	N	0.999998	D	0.89917	1.0	D	0.74674	0.984	T	0.15065	-1.0450	10	0.87932	D	0	.	4.4322	0.11533	1.0:0.0:0.0:0.0	.	203	Q9NXZ1	SAGE1_HUMAN	P	203	ENSP00000323191:T203P;ENSP00000445959:T203P;ENSP00000359743:T203P	ENSP00000323191:T203P	T	+	1	0	SAGE1	134816247	0.003000	0.15002	0.031000	0.17742	0.094000	0.18550	0.292000	0.19011	0.786000	0.33708	0.151000	0.16131	ACT		0.443	SAGE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058448.1	NM_018666		43	101	0	0	0	0.870114	0	43	101					C	134988581	A	C	134988581	3	2	260	1	0	0	0	0	1	0	0	0	13809	159	6	5	629	5	SAGE1	23	134988581	Missense_Mutation	SNP	A	TCGA-HI-7170-01A-11D-2114-08	119179444	134988581	20281979	35	12249											
LCE3E	353145	broad.mit.edu	37	chr1	152538501	152538501	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggacctctggcgccggcatcGgtggtggcgcctgtggtggt	2	9	19	11	4	1	0	0	0	1	0	2	1	1	1	3	8	0	1	3	8	0	0	rs140473829		TCGA-HI-7171-01A-12D-2114-08	TCGA-HI-7171-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880022c4-45e7-4c49-92a2-231924b36310	d26a95e2-53bc-4bf8-8b58-3fe3899d106e	g.chr1:152538501G>A	ENST00000368789.1	-	2	239	c.184C>T	c.(184-186)Cga>Tga	p.R62*		NM_178435.2	NP_848522.1	Q5T5B0	LCE3E_HUMAN	late cornified envelope 3E	62					keratinization (GO:0031424)					lung(6)|ovary(1)	7	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		Lung(1;0.000294)|LUAD - Lung adenocarcinoma(1;0.00527)|LUSC - Lung squamous cell carcinoma(543;0.206)	UCEC - Uterine corpus endometrioid carcinoma (5;0.153)		CGCCGGCATCGGTGGTGGCGC	0.682																																						ENST00000368789.1																			0				lung(6)|ovary(1)	7						c.(184-186)Cga>Tga		late cornified envelope 3E		G	stop/ARG	2,4404	4.2+/-10.8	0,2,2201	45	54	51		184	-3.5	0.1	1	dbSNP_134	51	2,8596	2.2+/-6.3	0,2,4297	no	stop-gained	LCE3E	NM_178435.2		0,4,6498	AA,AG,GG		0.0233,0.0454,0.0308		62/93	152538501	4,13000	2203	4299	6502	SO:0001587	stop_gained	353145				keratinization			g.chr1:152538501G>A		CCDS1013.1	1q21.3	2008-02-05			ENSG00000185966	ENSG00000185966		"Late cornified envelopes"	29463	protein-coding gene	gene with protein product		612617				11698679	Standard	NM_178435		Approved	LEP17	uc001faa.4	Q5T5B0	OTTHUMG00000012393	ENST00000368789.1:c.184C>T	1.37:g.152538501G>A	ENSP00000357778:p.Arg62*						p.R62*	NM_178435.2	NP_848522.1	Q5T5B0	LCE3E_HUMAN	Lung(1;0.000294)|LUAD - Lung adenocarcinoma(1;0.00527)|LUSC - Lung squamous cell carcinoma(543;0.206)	UCEC - Uterine corpus endometrioid carcinoma (5;0.153)	2	239	-	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		62					A2RRM6	Nonsense_Mutation	SNP	ENST00000368789.1	37	c.184C>T	CCDS1013.1	.	.	.	.	.	.	.	.	.	.	G	7.854	0.724642	0.15439	4.54E-4	2.33E-4	ENSG00000185966	ENST00000368789	.	.	.	3.69	-3.46	0.04767	.	.	.	.	.	.	.	.	.	.	.	0.39591	D	0.969584	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	7.2956	0.26391	0.0:0.1387:0.21:0.6512	.	.	.	.	X	62	.	ENSP00000357778:R62X	R	-	1	2	LCE3E	150805125	0.000000	0.05858	0.091000	0.20842	0.012000	0.07955	-0.973000	0.03798	-0.305000	0.08831	0.460000	0.39030	CGA		0.682	LCE3E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034513.1	NM_178435		6	62	0	0	0	1	0	6	62					A	152538501	G	A	152538501	4	1	261	1	0	0	0	0	0	1	0	0	8673	1124	39	2	98	2	LCE3E	1	152538501	Nonsense_Mutation	SNP	G	TCGA-HI-7171-01A-12D-2114-08		152538501	96712120	1	12250											
SELE	6401	broad.mit.edu	37	chr1	169696555	169696555	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atgtccgagctgcagagccaTtgagcgtccatccttcagga	9	9	11	12	2	1	2	1	1	0	1	4	4	4	3	4	1	4	2	4	1	0	2	rs373583487		TCGA-HI-7171-01A-12D-2114-08	TCGA-HI-7171-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880022c4-45e7-4c49-92a2-231924b36310	d26a95e2-53bc-4bf8-8b58-3fe3899d106e	g.chr1:169696555T>C	ENST00000333360.7	-	10	1719	c.1580A>G	c.(1579-1581)aAt>aGt	p.N527S	SELE_ENST00000367775.1_Missense_Mutation_p.N402S|SELE_ENST00000367779.4_Missense_Mutation_p.N401S|SELE_ENST00000367776.1_Missense_Mutation_p.N464S|SELE_ENST00000367782.4_Missense_Mutation_p.N464S|C1orf112_ENST00000498289.1_Intron|SELE_ENST00000367777.1_Missense_Mutation_p.N464S|SELE_ENST00000367780.4_Missense_Mutation_p.N402S|SELE_ENST00000367774.1_Missense_Mutation_p.N401S|SELE_ENST00000367781.4_Missense_Mutation_p.N464S	NM_000450.2	NP_000441.2	P16581	LYAM2_HUMAN	selectin E	527	Sushi 6. {ECO:0000255|PROSITE- ProRule:PRU00302}.				actin filament-based process (GO:0030029)|activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|calcium-mediated signaling (GO:0019722)|heterophilic cell-cell adhesion (GO:0007157)|inflammatory response (GO:0006954)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte migration involved in inflammatory response (GO:0002523)|leukocyte tethering or rolling (GO:0050901)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of receptor internalization (GO:0002092)|regulation of inflammatory response (GO:0050727)|response to interleukin-1 (GO:0070555)|response to lipopolysaccharide (GO:0032496)|response to tumor necrosis factor (GO:0034612)	caveola (GO:0005901)|coated pit (GO:0005905)|cortical cytoskeleton (GO:0030863)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	oligosaccharide binding (GO:0070492)|phospholipase binding (GO:0043274)|sialic acid binding (GO:0033691)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(3)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	all_hematologic(923;0.208)				Carvedilol(DB01136)	TGCAGAGCCATTGAGCGTCCA	0.552																																						ENST00000333360.7																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(3)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32						c.(1579-1581)aAt>aGt		selectin E		T	SER/ASN	0,4406		0,0,2203	107	92	97		1580	5.8	1	1		97	1,8599	1.2+/-3.3	0,1,4299	no	missense	SELE	NM_000450.2	46	0,1,6502	CC,CT,TT		0.0116,0.0,0.0077	probably-damaging	527/611	169696555	1,13005	2203	4300	6503	SO:0001583	missense	6401				actin filament-based process|activation of phospholipase C activity|calcium-mediated signaling|heterophilic cell-cell adhesion|leukocyte migration involved in inflammatory response|leukocyte tethering or rolling|positive regulation of receptor internalization|regulation of inflammatory response|response to interleukin-1|response to lipopolysaccharide|response to tumor necrosis factor	caveola|coated pit|cortical cytoskeleton|extracellular space|integral to membrane|perinuclear region of cytoplasm	oligosaccharide binding|phospholipase binding|sialic acid binding|transmembrane receptor activity	g.chr1:169696555T>C	M30640	CCDS1283.1	1q22-q25	2008-07-31	2008-07-31		ENSG00000007908	ENSG00000007908		"CD molecules"	10718	protein-coding gene	gene with protein product		131210	"endothelial adhesion molecule 1"	ELAM1, ELAM		1375831	Standard	NM_000450		Approved	ESEL, CD62E	uc001ggm.4	P16581	OTTHUMG00000034851	ENST00000333360.7:c.1580A>G	1.37:g.169696555T>C	ENSP00000331736:p.Asn527Ser					SELE_ENST00000367779.4_Missense_Mutation_p.N401S|SELE_ENST00000367777.1_Missense_Mutation_p.N464S|SELE_ENST00000367781.4_Missense_Mutation_p.N464S|C1orf112_ENST00000498289.1_Intron|SELE_ENST00000367776.1_Missense_Mutation_p.N464S|SELE_ENST00000367774.1_Missense_Mutation_p.N401S|SELE_ENST00000367780.4_Missense_Mutation_p.N402S|SELE_ENST00000367782.4_Missense_Mutation_p.N464S|SELE_ENST00000367775.1_Missense_Mutation_p.N402S	p.N527S	NM_000450.2	NP_000441.2	P16581	LYAM2_HUMAN			10	1719	-	all_hematologic(923;0.208)		527			Sushi 6.		A2RRD6|P16111	Missense_Mutation	SNP	ENST00000333360.7	37	c.1580A>G	CCDS1283.1	.	.	.	.	.	.	.	.	.	.	T	0.986	-0.695572	0.03279	0.0	1.16E-4	ENSG00000007908	ENST00000367781;ENST00000367782;ENST00000367780;ENST00000367779;ENST00000333360;ENST00000367777;ENST00000367775;ENST00000367776;ENST00000367774	T;T;T;T;T;T;T;T;T	0.63096	-0.02;-0.02;-0.02;-0.02;-0.02;-0.02;-0.02;-0.02;-0.02	5.83	5.83	0.93111	Complement control module (2);Sushi/SCR/CCP (3);	0.000000	0.43579	D	0.000553	T	0.53802	0.1819	L	0.41710	1.295	0.20489	N	0.999892	D	0.65815	0.995	D	0.74674	0.984	T	0.48007	-0.9072	10	0.15952	T	0.53	-24.7917	10.2498	0.43362	0.0:0.0:0.1661:0.8339	.	527	P16581	LYAM2_HUMAN	S	464;464;402;401;527;464;402;464;401	ENSP00000356755:N464S;ENSP00000356756:N464S;ENSP00000356754:N402S;ENSP00000356753:N401S;ENSP00000331736:N527S;ENSP00000356751:N464S;ENSP00000356749:N402S;ENSP00000356750:N464S;ENSP00000356748:N401S	ENSP00000331736:N527S	N	-	2	0	SELE	167963179	0.919000	0.31177	0.975000	0.42487	0.114000	0.19823	1.398000	0.34554	2.223000	0.72356	0.528000	0.53228	AAT		0.552	SELE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084333.1	NM_000450		6	69	0	0	0	1	0	6	69					C	169696555	T	C	169696555	3	2	261	1	0	0	0	0	1	0	0	0	14013	1493	52	4	268	4	SELE	1	169696555	Missense_Mutation	SNP	T	TCGA-HI-7171-01A-12D-2114-08	17158054	169696555	79554066	2	12251											
GJC2	57165	broad.mit.edu	37	chr1	228345673	228345673	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acgtctgctatgacgccttcGcgcccctgtcgcacgtgcgc	4	9	11	17	7	1	1	0	1	1	0	3	1	1	1	3	0	2	2	3	0	1	2			TCGA-HI-7171-01A-12D-2114-08	TCGA-HI-7171-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880022c4-45e7-4c49-92a2-231924b36310	d26a95e2-53bc-4bf8-8b58-3fe3899d106e	g.chr1:228345673G>A	ENST00000366714.2	+	2	389	c.214G>A	c.(214-216)Gcg>Acg	p.A72T		NM_020435.3	NP_065168.2	Q5T442	CXG2_HUMAN	gap junction protein, gamma 2, 47kDa	72					cell death (GO:0008219)|cell-cell signaling (GO:0007267)|response to toxic substance (GO:0009636)	connexon complex (GO:0005922)|integral component of membrane (GO:0016021)|myelin sheath (GO:0043209)	gap junction channel activity (GO:0005243)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	7		Prostate(94;0.0405)				TGACGCCTTCGCGCCCCTGTC	0.657																																						ENST00000366714.2																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	7						c.(214-216)Gcg>Acg		gap junction protein, gamma 2, 47kDa							56	44	48					1																	228345673		2203	4300	6503	SO:0001583	missense	57165				cell death	connexon complex|integral to membrane		g.chr1:228345673G>A	AF014643	CCDS1569.1	1q41-q42	2009-01-02	2007-12-14	2007-11-06	ENSG00000198835	ENSG00000198835		"Ion channels / Gap junction proteins (connexins)"	17494	protein-coding gene	gene with protein product	"connexin 47"	608803	"gap junction protein, alpha 12, 47kDa"	GJA12		19056803	Standard	NM_020435		Approved	CX47, CX46.6, SPG44	uc001hsk.3	Q5T442	OTTHUMG00000039771	ENST00000366714.2:c.214G>A	1.37:g.228345673G>A	ENSP00000355675:p.Ala72Thr						p.A72T	NM_020435.3	NP_065168.2	Q5T442	CXG2_HUMAN			2	389	+		Prostate(94;0.0405)	72					O43440|Q7Z7J2|Q8IWJ9	Missense_Mutation	SNP	ENST00000366714.2	37	c.214G>A	CCDS1569.1	.	.	.	.	.	.	.	.	.	.	G	16.31	3.086721	0.55861	.	.	ENSG00000198835	ENST00000366714	D	0.99150	-5.49	4.11	3.2	0.36748	Connexin, N-terminal (2);	0.000000	0.64402	D	0.000002	D	0.99111	0.9694	M	0.83852	2.665	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	D	0.99050	1.0827	10	0.46703	T	0.11	.	11.7226	0.51691	0.0869:0.0:0.9131:0.0	.	72	Q5T442	CXG2_HUMAN	T	72	ENSP00000355675:A72T	ENSP00000355675:A72T	A	+	1	0	GJC2	226412296	1.000000	0.71417	0.983000	0.44433	0.105000	0.19272	9.348000	0.97062	0.957000	0.37930	-0.339000	0.08088	GCG		0.657	GJC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095985.1	NM_020435		6	28	0	0	0	1	0	6	28					A	228345673	G	A	228345673	3	1	261	1	0	0	0	0	1	0	0	0	6415	1087	38	1	216	1	GJC2	1	228345673	Missense_Mutation	SNP	G	TCGA-HI-7171-01A-12D-2114-08	58649118	228345673	20904948	3	12252											
PXDN	7837	broad.mit.edu	37	chr2	1677528	1677528	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgtgtgttctggatcatcAgggtcccatcgtccagcaag	7	11	11	12	1	3	0	2	0	1	0	6	1	5	1	3	2	1	2	3	2	1	1			TCGA-HI-7171-01A-12D-2114-08	TCGA-HI-7171-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880022c4-45e7-4c49-92a2-231924b36310	d26a95e2-53bc-4bf8-8b58-3fe3899d106e	g.chr2:1677528A>G	ENST00000252804.4	-	9	955	c.905T>C	c.(904-906)cTg>cCg	p.L302P	PXDN_ENST00000483018.1_5'UTR	NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN	peroxidasin homolog (Drosophila)	302	Ig-like C2-type 1.				extracellular matrix organization (GO:0030198)|hydrogen peroxide catabolic process (GO:0042744)|immune response (GO:0006955)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|oxidation-reduction process (GO:0055114)	endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|heme binding (GO:0020037)|interleukin-1 receptor antagonist activity (GO:0005152)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)			breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		CTGGATCATCAGGGTCCCATC	0.502																																						ENST00000252804.4																			0				breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112						c.(904-906)cTg>cCg		peroxidasin homolog (Drosophila)							158	161	160					2																	1677528		2074	4213	6287	SO:0001583	missense	7837				extracellular matrix organization|hydrogen peroxide catabolic process|immune response	endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix	extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity	g.chr2:1677528A>G	AF200348	CCDS46221.1	2p25.3	2013-01-11			ENSG00000130508	ENSG00000130508		"Immunoglobulin superfamily / I-set domain containing"	14966	protein-coding gene	gene with protein product		605158				10441517, 9039502	Standard	XM_005264707		Approved	KIAA0230, PRG2, MG50, D2S448, D2S448E, PXN	uc002qxa.3	Q92626	OTTHUMG00000059697	ENST00000252804.4:c.905T>C	2.37:g.1677528A>G	ENSP00000252804:p.Leu302Pro					PXDN_ENST00000483018.1_5'UTR	p.L302P	NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)	9	955	-	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)	302			Ig-like C2-type 1.		A8QM65|D6W4Y0|Q4KMG2	Missense_Mutation	SNP	ENST00000252804.4	37	c.905T>C	CCDS46221.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	18.05|18.05	3.537829|3.537829	0.65085|0.65085	.|.	.|.	ENSG00000130508|ENSG00000130508	ENST00000252804|ENST00000433670	T|.	0.74315|.	-0.83|.	5.25|5.25	5.25|5.25	0.73442|0.73442	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);|.	0.000000|.	0.64402|.	D|.	0.000006|.	D|.	0.89577|.	0.6755|.	H|H	0.99415|0.99415	4.555|4.555	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.80764|.	0.994;0.994|.	D|.	0.93665|.	0.6985|.	10|.	0.87932|.	D|.	0|.	-17.834|-17.834	13.9908|13.9908	0.64364|0.64364	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	302;302|.	Q92626-2;Q92626|.	.;PXDN_HUMAN|.	P|R	302|298	ENSP00000252804:L302P|.	ENSP00000252804:L302P|.	L|X	-|-	2|1	0|0	PXDN|PXDN	1656535|1656535	1.000000|1.000000	0.71417|0.71417	0.330000|0.330000	0.25442|0.25442	0.502000|0.502000	0.33828|0.33828	9.173000|9.173000	0.94815|0.94815	2.088000|2.088000	0.63022|0.63022	0.459000|0.459000	0.35465|0.35465	CTG|TGA		0.502	PXDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322505.1	XM_056455		3	137	0	0	0	1	0	3	137					G	1677528	A	G	1677528	3	3	261	1	0	0	0	0	1	0	0	0	12847	188	7	4	3594	4	PXDN	2	1677528	Missense_Mutation	SNP	A	TCGA-HI-7171-01A-12D-2114-08		1677528	241521845	4	12253											
C2orf42	54980	broad.mit.edu	37	chr2	70408850	70408850	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctgaaaccccgagctccaCaaagcatcggtaatcagggc	12	6	9	14	2	2	1	1	1	1	0	4	2	3	1	3	2	3	3	3	2	3	1			TCGA-HI-7171-01A-12D-2114-08	TCGA-HI-7171-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880022c4-45e7-4c49-92a2-231924b36310	d26a95e2-53bc-4bf8-8b58-3fe3899d106e	g.chr2:70408850C>T	ENST00000264434.2	-	3	647	c.268G>A	c.(268-270)Gtg>Atg	p.V90M	C2orf42_ENST00000420306.1_Missense_Mutation_p.V90M|C2orf42_ENST00000470096.1_5'UTR	NM_017880.1	NP_060350.1	Q9NWW7	CB042_HUMAN	chromosome 2 open reading frame 42	90										endometrium(2)|large_intestine(4)|lung(4)|prostate(1)|urinary_tract(1)	12						CCGAGCTCCACAAAGCATCGG	0.522																																						ENST00000264434.2																			0				endometrium(2)|large_intestine(4)|lung(4)|prostate(1)|urinary_tract(1)	12						c.(268-270)Gtg>Atg		chromosome 2 open reading frame 42							104	93	97					2																	70408850		2203	4300	6503	SO:0001583	missense	54980							g.chr2:70408850C>T	AK000565	CCDS1899.1	2p14	2011-03-08			ENSG00000115998	ENSG00000115998			26056	protein-coding gene	gene with protein product						12477932	Standard	XM_005264389		Approved	FLJ20558	uc002sgh.3	Q9NWW7	OTTHUMG00000129642	ENST00000264434.2:c.268G>A	2.37:g.70408850C>T	ENSP00000264434:p.Val90Met					C2orf42_ENST00000470096.1_5'UTR|C2orf42_ENST00000420306.1_Missense_Mutation_p.V90M	p.V90M	NM_017880.1	NP_060350.1	Q9NWW7	CB042_HUMAN			3	647	-			90					D6W5G3|Q9H629	Missense_Mutation	SNP	ENST00000264434.2	37	c.268G>A	CCDS1899.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.385709	0.82792	.	.	ENSG00000115998	ENST00000264434;ENST00000420306;ENST00000447804;ENST00000417865;ENST00000419381;ENST00000457952	T;T	0.58210	0.35;0.35	4.96	4.96	0.65561	.	0.000000	0.85682	D	0.000000	T	0.70254	0.3203	M	0.64404	1.975	0.58432	D	0.999997	D	0.76494	0.999	D	0.80764	0.994	T	0.73285	-0.4031	10	0.87932	D	0	-12.2802	16.994	0.86361	0.0:1.0:0.0:0.0	.	90	Q9NWW7	CB042_HUMAN	M	90	ENSP00000264434:V90M;ENSP00000404515:V90M	ENSP00000264434:V90M	V	-	1	0	C2orf42	70262354	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	6.768000	0.74980	2.576000	0.86940	0.485000	0.47835	GTG		0.522	C2orf42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251840.1	NM_017880		8	75	0	0	0	1	0	8	75					T	70408850	C	T	70408850	3	4	261	1	0	0	0	0	1	0	0	0	2166	478	17	3	1488	3	C2orf42	2	70408850	Missense_Mutation	SNP	C	TCGA-HI-7171-01A-12D-2114-08	68731322	70408850	172790523	5	12254											
SCN7A	6332	broad.mit.edu	37	chr2	167266417	167266417	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taaaagcttggcttgttaccAcatcaaagatgaatccttgg	13	12	8	8	0	1	2	1	1	0	1	2	2	2	2	2	2	2	3	2	2	5	5			TCGA-HI-7171-01A-12D-2114-08	TCGA-HI-7171-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880022c4-45e7-4c49-92a2-231924b36310	d26a95e2-53bc-4bf8-8b58-3fe3899d106e	g.chr2:167266417A>T	ENST00000409855.1	-	24	3866	c.3740T>A	c.(3739-3741)gTg>gAg	p.V1247E		NM_002976.3	NP_002967.2	Q01118	SCN7A_HUMAN	sodium channel, voltage-gated, type VII, alpha subunit	1247					membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|neuronal action potential (GO:0019228)|sodium ion homeostasis (GO:0055078)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	glial cell projection (GO:0097386)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44					Valproic Acid(DB00313)	GCTTGTTACCACATCAAAGAT	0.338																																						ENST00000409855.1																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44						c.(3739-3741)gTg>gAg		sodium channel, voltage-gated, type VII, alpha subunit							37	36	36					2																	167266417		1848	4082	5930	SO:0001583	missense	6332				muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:167266417A>T	M91556	CCDS46442.1	2q21-q23	2012-03-05	2012-02-28	2002-06-14	ENSG00000136546	ENSG00000136546		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10594	protein-coding gene	gene with protein product		182392	"sodium channel, voltage-gated, type VI, alpha", "sodium channel, voltage-gated, type VII, alpha"	SCN6A		10198179	Standard	NM_002976		Approved	Nav2.1, Nav2.2, NaG	uc002udu.2	Q01118	OTTHUMG00000154078	ENST00000409855.1:c.3740T>A	2.37:g.167266417A>T	ENSP00000386796:p.Val1247Glu						p.V1247E	NM_002976.3	NP_002967.2	Q01118	SCN7A_HUMAN			24	3866	-			1247						Missense_Mutation	SNP	ENST00000409855.1	37	c.3740T>A	CCDS46442.1	.	.	.	.	.	.	.	.	.	.	A	16.58	3.162973	0.57476	.	.	ENSG00000136546	ENST00000409855;ENST00000259060	D	0.97016	-4.21	5.54	5.54	0.83059	.	0.660669	0.13636	N	0.373318	D	0.94823	0.8328	L	0.54323	1.7	0.25828	N	0.984209	P	0.43662	0.814	B	0.40565	0.333	D	0.91181	0.4976	10	0.87932	D	0	.	13.6761	0.62454	1.0:0.0:0.0:0.0	.	1247	Q01118	SCN7A_HUMAN	E	1247	ENSP00000386796:V1247E	ENSP00000259060:V1247E	V	-	2	0	SCN7A	166974663	0.971000	0.33674	0.982000	0.44146	0.440000	0.31957	9.107000	0.94261	2.323000	0.78572	0.528000	0.53228	GTG		0.338	SCN7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333745.1			4	2	0	0	0	1	0	4	2					T	167266417	A	T	167266417	3	4	261	1	0	0	0	0	1	0	0	0	13923	159	6	5	1316	5	SCN7A	2	167266417	Missense_Mutation	SNP	A	TCGA-HI-7171-01A-12D-2114-08	96857567	167266417	75932956	6	12255											
TNS1	7145	broad.mit.edu	37	chr2	218673380	218673380	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagtgttgagagggtagtggCgtctgaaaaagagcctgcag	11	8	16	6	1	1	3	0	2	1	2	1	4	1	3	1	2	2	3	1	2	3	2			TCGA-HI-7171-01A-12D-2114-08	TCGA-HI-7171-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880022c4-45e7-4c49-92a2-231924b36310	d26a95e2-53bc-4bf8-8b58-3fe3899d106e	g.chr2:218673380C>T	ENST00000171887.4	-	31	5428	c.4976G>A	c.(4975-4977)cGc>cAc	p.R1659H	TNS1_ENST00000419504.1_Missense_Mutation_p.R1645H|TNS1_ENST00000430930.1_Missense_Mutation_p.R1638H	NM_022648.4	NP_072174.3	Q9HBL0	TENS1_HUMAN	tensin 1	1659					cell-substrate junction assembly (GO:0007044)|fibroblast migration (GO:0010761)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)	poly(A) RNA binding (GO:0044822)			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(23)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	79		Renal(207;0.0483)|Lung NSC(271;0.213)		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)		AGGGTAGTGGCGTCTGAAAAA	0.502																																						ENST00000171887.4																			0				breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(23)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	79						c.(4975-4977)cGc>cAc		tensin 1							277	258	264					2																	218673380		2203	4300	6503	SO:0001583	missense	7145					cytoplasm|cytoskeleton|focal adhesion	actin binding	g.chr2:218673380C>T	AB209238	CCDS2407.1	2q35-q36	2014-06-13	2005-05-13	2005-05-13	ENSG00000079308	ENSG00000079308		"Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs", "SH2 domain containing"	11973	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 155"	600076	"tensin", "matrix-remodelling associated 6"	TNS, MXRA6			Standard	NM_022648		Approved	DKFZp586K0617, PPP1R155	uc002vgt.2	Q9HBL0	OTTHUMG00000133056	ENST00000171887.4:c.4976G>A	2.37:g.218673380C>T	ENSP00000171887:p.Arg1659His					TNS1_ENST00000430930.1_Missense_Mutation_p.R1638H|TNS1_ENST00000419504.1_Missense_Mutation_p.R1645H	p.R1659H	NM_022648.4	NP_072174.3	Q9HBL0	TENS1_HUMAN		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)	31	5428	-		Renal(207;0.0483)|Lung NSC(271;0.213)	1659					Q4ZG71|Q6IPI5	Missense_Mutation	SNP	ENST00000171887.4	37	c.4976G>A	CCDS2407.1	.	.	.	.	.	.	.	.	.	.	C	26.7	4.760664	0.89932	.	.	ENSG00000079308	ENST00000171887;ENST00000446688;ENST00000419504;ENST00000430930	T;T;T;T	0.35048	1.33;1.33;1.33;1.33	4.02	4.02	0.46733	Phosphotyrosine interaction domain (1);Pleckstrin homology-type (1);Tensin phosphotyrosine-binding domain (1);	0.153836	0.44097	D	0.000492	T	0.67011	0.2848	M	0.89715	3.055	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.996;0.999	T	0.77024	-0.2741	10	0.87932	D	0	.	16.3875	0.83521	0.0:1.0:0.0:0.0	.	1659;1638;1645	Q9HBL0;E9PGF5;E9PF55	TENS1_HUMAN;.;.	H	1659;797;1645;1638	ENSP00000171887:R1659H;ENSP00000394171:R797H;ENSP00000408724:R1645H;ENSP00000406016:R1638H	ENSP00000171887:R1659H	R	-	2	0	TNS1	218381625	1.000000	0.71417	0.981000	0.43875	0.904000	0.53231	7.477000	0.81069	2.065000	0.61736	0.456000	0.33151	CGC		0.502	TNS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256672.2	NM_022648		21	105	0	0	0	1	0	21	105					T	218673380	C	T	218673380	3	4	261	1	0	0	0	0	1	0	0	0	16340	768	27	1	243	1	TNS1	2	218673380	Missense_Mutation	SNP	C	TCGA-HI-7171-01A-12D-2114-08	51406963	218673380	24525993	7	12256											
IL7R	3575	broad.mit.edu	37	chr5	35871289	35871289	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcacgatgtagcttaccgcCaggaaaaggatgaaaacaaa	17	6	10	8	2	0	1	0	1	0	0	0	4	0	3	2	2	4	3	2	2	7	2			TCGA-HI-7171-01A-12D-2114-08	TCGA-HI-7171-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880022c4-45e7-4c49-92a2-231924b36310	d26a95e2-53bc-4bf8-8b58-3fe3899d106e	g.chr5:35871289C>A	ENST00000303115.3	+	4	640	c.511C>A	c.(511-513)Cag>Aag	p.Q171K	IL7R_ENST00000506850.1_Missense_Mutation_p.Q171K|IL7R_ENST00000343305.4_Missense_Mutation_p.Q171K	NM_002185.3	NP_002176.2	P16871	IL7RA_HUMAN	interleukin 7 receptor	171	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.				B cell proliferation (GO:0042100)|cell growth (GO:0016049)|cell morphogenesis (GO:0000902)|cell surface receptor signaling pathway (GO:0007166)|homeostasis of number of cells (GO:0048872)|immune response (GO:0006955)|immunoglobulin production (GO:0002377)|interleukin-7-mediated signaling pathway (GO:0038111)|lymph node development (GO:0048535)|negative regulation of T cell mediated cytotoxicity (GO:0001915)|positive regulation of gene expression (GO:0010628)|positive regulation of T cell differentiation in thymus (GO:0033089)|regulation of cell size (GO:0008361)|regulation of DNA recombination (GO:0000018)|signal transduction (GO:0007165)|T cell differentiation (GO:0030217)	external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)|interleukin-7 receptor activity (GO:0004917)			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(78)|kidney(2)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|skin(5)|stomach(3)	126	all_lung(31;0.00015)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.187)|Colorectal(62;0.202)			AGCTTACCGCCAGGAAAAGGA	0.348			"Mis, O"		"ALL, ETP ALL"		Severe combined immune deficiency																															ENST00000303115.3				Dom	yes		5	5p13	146661	"Mis, O"	interleukin 7 receptor	yes	Severe combined immune deficiency	L			"ALL, ETP ALL"		0				NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(78)|kidney(2)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|skin(5)|stomach(3)	126						c.(511-513)Cag>Aag		interleukin 7 receptor							74	73	73					5																	35871289		2203	4300	6503	SO:0001583	missense	3575				immune response|regulation of DNA recombination	extracellular region|integral to membrane	antigen binding|interleukin-7 receptor activity	g.chr5:35871289C>A	M29696	CCDS3911.1	5p13	2014-09-17			ENSG00000168685	ENSG00000168685		"Interleukins and interleukin receptors", "CD molecules", "Fibronectin type III domain containing"	6024	protein-coding gene	gene with protein product		146661				2317865	Standard	NM_002185		Approved	CD127	uc003jjs.4	P16871	OTTHUMG00000090791	ENST00000303115.3:c.511C>A	5.37:g.35871289C>A	ENSP00000306157:p.Gln171Lys					IL7R_ENST00000343305.4_Missense_Mutation_p.Q171K|IL7R_ENST00000506850.1_Missense_Mutation_p.Q171K	p.Q171K	NM_002185.3	NP_002176.2	P16871	IL7RA_HUMAN	Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.187)|Colorectal(62;0.202)		4	640	+	all_lung(31;0.00015)		171			Fibronectin type-III.		B2RCS6|B4DVT1|Q05CU8|Q6NSP4|Q6NWM0|Q6NWM1|Q6NWM2|Q6NWM3|Q6SV45|Q9UPC1	Missense_Mutation	SNP	ENST00000303115.3	37	c.511C>A	CCDS3911.1	.	.	.	.	.	.	.	.	.	.	C	14.67	2.606172	0.46527	.	.	ENSG00000168685	ENST00000303115;ENST00000343305;ENST00000506850	T;T;T	0.74842	-0.88;-0.88;-0.88	5.41	5.41	0.78517	Fibronectin, type III (2);Immunoglobulin-like fold (1);	0.539264	0.20291	N	0.095225	T	0.67785	0.2930	L	0.59436	1.845	0.41639	D	0.989063	B;B	0.33198	0.109;0.401	B;B	0.28465	0.063;0.09	T	0.64694	-0.6347	10	0.15066	T	0.55	-18.401	14.6955	0.69118	0.0:1.0:0.0:0.0	.	171;171	D6RGV2;P16871	.;IL7RA_HUMAN	K	171	ENSP00000306157:Q171K;ENSP00000345819:Q171K;ENSP00000421207:Q171K	ENSP00000306157:Q171K	Q	+	1	0	IL7R	35907046	0.540000	0.26410	1.000000	0.80357	0.896000	0.52359	1.185000	0.32065	2.536000	0.85505	0.655000	0.94253	CAG		0.348	IL7R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207577.2			5	44	1	0	0.00307968	1	0.00336483	5	44					A	35871289	C	A	35871289	3	1	261	1	0	0	0	0	1	0	0	0	7705	595	21	5	525	5	IL7R	5	35871289	Missense_Mutation	SNP	C	TCGA-HI-7171-01A-12D-2114-08		35871289	145043971	8	12257											
EFNA5	1946	broad.mit.edu	37	chr5	106723460	106723460	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aggaccttcttccattatctGggattgcagaggctgtgggt	7	13	13	8	0	2	1	0	0	2	1	3	3	3	3	2	4	1	2	2	4	1	4			TCGA-HI-7171-01A-12D-2114-08	TCGA-HI-7171-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880022c4-45e7-4c49-92a2-231924b36310	d26a95e2-53bc-4bf8-8b58-3fe3899d106e	g.chr5:106723460G>A	ENST00000333274.6	-	3	712	c.431C>T	c.(430-432)cCa>cTa	p.P144L	EFNA5_ENST00000510359.1_5'UTR|EFNA5_ENST00000509503.1_Missense_Mutation_p.P144L	NM_001962.2	NP_001953.1	P52803	EFNA5_HUMAN	ephrin-A5	144	Ephrin RBD. {ECO:0000255|PROSITE- ProRule:PRU00884}.				axon guidance (GO:0007411)|ephrin receptor signaling pathway (GO:0048013)|nervous system development (GO:0007399)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell-cell adhesion (GO:0022407)|regulation of focal adhesion assembly (GO:0051893)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|regulation of microtubule cytoskeleton organization (GO:0070507)|regulation of Rac GTPase activity (GO:0032314)|regulation of Rho GTPase activity (GO:0032319)|retinal ganglion cell axon guidance (GO:0031290)	anchored component of external side of plasma membrane (GO:0031362)|plasma membrane (GO:0005886)	chemorepellent activity (GO:0045499)|ephrin receptor binding (GO:0046875)			large_intestine(6)	6		all_cancers(142;5.15e-06)|all_epithelial(76;4.39e-07)|Prostate(80;0.00726)|Lung NSC(167;0.0736)|Ovarian(225;0.0797)|all_lung(232;0.0854)|Colorectal(57;0.241)		Epithelial(69;1.25e-12)|OV - Ovarian serous cystadenocarcinoma(64;1.32e-11)|BRCA - Breast invasive adenocarcinoma(61;0.0376)|COAD - Colon adenocarcinoma(37;0.109)		TCCATTATCTGGGATTGCAGA	0.423																																						ENST00000333274.6																			0				large_intestine(6)	6						c.(430-432)cCa>cTa		ephrin-A5							137	131	133					5																	106723460		2202	4300	6502	SO:0001583	missense	1946				cell-cell signaling	anchored to plasma membrane|caveola|extracellular space	ephrin receptor binding	g.chr5:106723460G>A	U26403	CCDS4097.1	5q21	2011-03-09			ENSG00000184349	ENSG00000184349		"Ephrins"	3225	protein-coding gene	gene with protein product		601535		EPLG7		8661153, 9245480	Standard	NM_001962		Approved	AF1, LERK7	uc003kol.3	P52803	OTTHUMG00000128741	ENST00000333274.6:c.431C>T	5.37:g.106723460G>A	ENSP00000328777:p.Pro144Leu					EFNA5_ENST00000509503.1_Missense_Mutation_p.P144L|EFNA5_ENST00000510359.1_5'UTR	p.P144L	NM_001962.2	NP_001953.1	P52803	EFNA5_HUMAN		Epithelial(69;1.25e-12)|OV - Ovarian serous cystadenocarcinoma(64;1.32e-11)|BRCA - Breast invasive adenocarcinoma(61;0.0376)|COAD - Colon adenocarcinoma(37;0.109)	3	712	-		all_cancers(142;5.15e-06)|all_epithelial(76;4.39e-07)|Prostate(80;0.00726)|Lung NSC(167;0.0736)|Ovarian(225;0.0797)|all_lung(232;0.0854)|Colorectal(57;0.241)	144						Missense_Mutation	SNP	ENST00000333274.6	37	c.431C>T	CCDS4097.1	.	.	.	.	.	.	.	.	.	.	G	12.32	1.903332	0.33628	.	.	ENSG00000184349	ENST00000333274;ENST00000509503	T;T	0.43688	0.94;0.94	5.7	5.7	0.88788	Cupredoxin (2);	0.104686	0.64402	D	0.000003	T	0.44477	0.1295	L	0.60845	1.875	0.80722	D	1	B	0.21225	0.053	B	0.20767	0.031	T	0.23833	-1.0177	10	0.31617	T	0.26	-9.7841	19.843	0.96697	0.0:0.0:1.0:0.0	.	144	P52803	EFNA5_HUMAN	L	144	ENSP00000328777:P144L;ENSP00000426989:P144L	ENSP00000328777:P144L	P	-	2	0	EFNA5	106751359	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.338000	0.72963	2.679000	0.91253	0.655000	0.94253	CCA		0.423	EFNA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250652.1	NM_001962		15	80	0	0	0	1	0	15	80					A	106723460	G	A	106723460	3	1	261	1	0	0	0	0	1	0	0	0	4954	1348	47	3	267	3	EFNA5	5	106723460	Missense_Mutation	SNP	G	TCGA-HI-7171-01A-12D-2114-08	70852171	106723460	74191800	9	12258											
TBCC	6903	broad.mit.edu	37	chr6	42713803	42713803	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcagcagcggagcaactgacGgactccatattggcttcaag	11	7	12	11	2	1	1	1	1	0	0	2	3	2	3	1	3	4	4	1	3	3	3	rs537953279		TCGA-HI-7171-01A-12D-2114-08	TCGA-HI-7171-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880022c4-45e7-4c49-92a2-231924b36310	d26a95e2-53bc-4bf8-8b58-3fe3899d106e	g.chr6:42713803G>A	ENST00000372876.1	-	1	31	c.9C>T	c.(7-9)tcC>tcT	p.S3S	TBCC_ENST00000244625.2_Silent_p.S3S	NM_003192.2	NP_003183	Q15814	TBCC_HUMAN	tubulin folding cofactor C	3					'de novo' posttranslational protein folding (GO:0051084)|cell morphogenesis (GO:0000902)|cellular protein metabolic process (GO:0044267)|GTP catabolic process (GO:0006184)|post-chaperonin tubulin folding pathway (GO:0007023)|protein folding (GO:0006457)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|microtubule (GO:0005874)|photoreceptor connecting cilium (GO:0032391)	chaperone binding (GO:0051087)|GTPase activity (GO:0003924)	p.S3S(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|urinary_tract(3)	14	Colorectal(47;0.196)		all cancers(41;0.00122)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.125)			AGCAACTGACGGACTCCATAT	0.617													G|||	1	0.000199681	0	0	5008	,	,		12523	0		0.001	False		,,,				2504	0					ENST00000244625.2																			1	Substitution - coding silent(1)	p.S3S(1)	kidney(1)	breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|urinary_tract(3)	14						c.(7-9)tcC>tcT		tubulin folding cofactor C							41	42	41					6																	42713803		2202	4299	6501	SO:0001819	synonymous_variant	6903				'de novo' posttranslational protein folding|post-chaperonin tubulin folding pathway	cytoplasm|microtubule|photoreceptor connecting cilium	chaperone binding|GTPase activity	g.chr6:42713803G>A	U61234	CCDS4872.1	6p21.1	2008-02-05	2006-11-21		ENSG00000124659	ENSG00000124659			11580	protein-coding gene	gene with protein product		602971	"tubulin-specific chaperone c"			8706133, 11847227	Standard	NM_003192		Approved	CFC	uc003osl.3	Q15814	OTTHUMG00000014704	ENST00000372876.1:c.9C>T	6.37:g.42713803G>A						TBCC_ENST00000372876.1_Silent_p.S3S	p.S3S			Q15814	TBCC_HUMAN	all cancers(41;0.00122)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.125)		2	572	-	Colorectal(47;0.196)		3					Q53Y43|Q5T787	Silent	SNP	ENST00000372876.1	37	c.9C>T	CCDS4872.1																																																																																				0.617	TBCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040559.1	NM_003192		19	44	0	0	0	1	0	19	44					A	42713803	G	A	42713803	2	1	261	1	0	0	0	0	0	0	0	1	15628	1103	39	2		2	TBCC	6	42713803	Silent	SNP	G	TCGA-HI-7171-01A-12D-2114-08		42713803	128401264	10	12259											
GCM1	8521	broad.mit.edu	37	chr6	53010374	53010374	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acctgtggcagtttcacatcAttaatatcccagcttaatat	12	14	5	10	0	2	0	2	0	0	0	3	0	3	0	2	1	1	3	2	1	4	5			TCGA-HI-7171-01A-12D-2114-08	TCGA-HI-7171-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880022c4-45e7-4c49-92a2-231924b36310	d26a95e2-53bc-4bf8-8b58-3fe3899d106e	g.chr6:53010374A>G	ENST00000259803.7	-	2	268	c.57T>C	c.(55-57)aaT>aaC	p.N19N	U3_ENST00000516121.1_RNA	NM_003643.3	NP_003634.2	Q9NP62	GCM1_HUMAN	glial cells missing homolog 1 (Drosophila)	19					anatomical structure morphogenesis (GO:0009653)|astrocyte fate commitment (GO:0060018)|branching involved in labyrinthine layer morphogenesis (GO:0060670)|cell differentiation involved in embryonic placenta development (GO:0060706)|positive regulation of syncytium formation by plasma membrane fusion (GO:0060143)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(15)|ovary(1)|skin(1)	24	Lung NSC(77;0.0755)					GTTTCACATCATTAATATCCC	0.423																																						ENST00000259803.7																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(15)|ovary(1)|skin(1)	24						c.(55-57)aaT>aaC		glial cells missing homolog 1 (Drosophila)							152	138	143					6																	53010374		2203	4300	6503	SO:0001819	synonymous_variant	8521					transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding	g.chr6:53010374A>G	D88613	CCDS4950.1	6p21-p12	2008-08-29	2001-11-28	2002-09-27	ENSG00000137270	ENSG00000137270			4197	protein-coding gene	gene with protein product		603715	"glial cells missing (Drosophila) homolog a"	GCMA		8962155	Standard	NM_003643		Approved	hGCMa	uc003pbp.3	Q9NP62	OTTHUMG00000014871	ENST00000259803.7:c.57T>C	6.37:g.53010374A>G							p.N19N	NM_003643.3	NP_003634.2	Q9NP62	GCM1_HUMAN			2	268	-	Lung NSC(77;0.0755)		19					Q4VAQ7|Q5T0X0|Q99468|Q9P1X3	Silent	SNP	ENST00000259803.7	37	c.57T>C	CCDS4950.1																																																																																				0.423	GCM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040953.1			3	112	0	0	0	1	0	3	112					G	53010374	A	G	53010374	2	3	261	1	0	0	0	0	0	0	0	1	6297	214	8	4		4	GCM1	6	53010374	Silent	SNP	A	TCGA-HI-7171-01A-12D-2114-08	10296571	53010374	118104693	11	12260											
NEUROD6	63974	broad.mit.edu	37	chr7	31378577	31378577	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgtgcatcctgttcctctcGcgcgcgttcgcttcctgtct	1	14	9	17	6	2	0	0	0	2	0	7	0	5	0	4	0	1	4	4	0	0	3			TCGA-HI-7171-01A-12D-2114-08	TCGA-HI-7171-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880022c4-45e7-4c49-92a2-231924b36310	d26a95e2-53bc-4bf8-8b58-3fe3899d106e	g.chr7:31378577G>A	ENST00000297142.3	-	2	628	c.306C>T	c.(304-306)cgC>cgT	p.R102R		NM_022728.2	NP_073565.2	Q96NK8	NDF6_HUMAN	neuronal differentiation 6	102	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				cell differentiation (GO:0030154)|dentate gyrus development (GO:0021542)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	32						TGTTCCTCTCGCGCGCGTTCG	0.473																																						ENST00000297142.3																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	32						c.(304-306)cgC>cgT		neuronal differentiation 6							222	218	220					7																	31378577		2203	4300	6503	SO:0001819	synonymous_variant	63974				cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr7:31378577G>A	AF248954	CCDS5434.1	7p15.1	2013-05-21	2012-02-22		ENSG00000164600	ENSG00000164600		"Basic helix-loop-helix proteins"	13804	protein-coding gene	gene with protein product		611513	"neurogenic differentiation 6"			12357074	Standard	NM_022728		Approved	Atoh2, NEX1M, Math-2, bHLHa2, Nex1	uc003tch.4	Q96NK8	OTTHUMG00000022865	ENST00000297142.3:c.306C>T	7.37:g.31378577G>A							p.R102R	NM_022728.2	NP_073565.2	Q96NK8	NDF6_HUMAN			2	628	-			102					Q548T9|Q9H3H6	Silent	SNP	ENST00000297142.3	37	c.306C>T	CCDS5434.1																																																																																				0.473	NEUROD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215050.1	NM_022728		14	137	0	0	0	1	0	14	137					A	31378577	G	A	31378577	2	1	261	1	0	0	0	0	0	0	0	1	10351	1074	38	1		1	NEUROD6	7	31378577	Silent	SNP	G	TCGA-HI-7171-01A-12D-2114-08		31378577	127760086	12	12261											
ABCA13	154664	broad.mit.edu	37	chr7	48266917	48266917	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaaagcctccatcagcagcCtcatatctgggattttctac	10	11	8	12	0	4	0	2	0	2	0	5	2	5	2	3	2	4	1	3	2	3	4			TCGA-HI-7171-01A-12D-2114-08	TCGA-HI-7171-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880022c4-45e7-4c49-92a2-231924b36310	d26a95e2-53bc-4bf8-8b58-3fe3899d106e	g.chr7:48266917C>T	ENST00000435803.1	+	6	551	c.527C>T	c.(526-528)cCt>cTt	p.P176L		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	176					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						CATCAGCAGCCTCATATCTGG	0.433																																						ENST00000435803.1																			0				breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						c.(526-528)cCt>cTt		ATP-binding cassette, sub-family A (ABC1), member 13							162	159	160					7																	48266917		1881	4106	5987	SO:0001583	missense	154664				transport	integral to membrane	ATP binding|ATPase activity	g.chr7:48266917C>T	AY204751	CCDS47584.1	7p12.3	2012-03-14			ENSG00000179869	ENSG00000179869		"ATP binding cassette transporters / subfamily A"	14638	protein-coding gene	gene with protein product		607807				12697998	Standard	NM_152701		Approved	FLJ33876, FLJ33951	uc003toq.2	Q86UQ4	OTTHUMG00000155840	ENST00000435803.1:c.527C>T	7.37:g.48266917C>T	ENSP00000411096:p.Pro176Leu						p.P176L	NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN			6	551	+			176					K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Missense_Mutation	SNP	ENST00000435803.1	37	c.527C>T	CCDS47584.1	.	.	.	.	.	.	.	.	.	.	C	16.26	3.073083	0.55646	.	.	ENSG00000179869	ENST00000435803	T	0.30448	1.53	5.37	5.37	0.77165	.	0.000000	0.40908	D	0.000997	T	0.51415	0.1673	L	0.59436	1.845	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.998;1.0	T	0.47849	-0.9085	10	0.49607	T	0.09	.	14.6062	0.68481	0.0:1.0:0.0:0.0	.	176;176	Q86UQ4;Q86UQ4-2	ABCAD_HUMAN;.	L	176	ENSP00000411096:P176L	ENSP00000409268:P176L	P	+	2	0	ABCA13	48237463	0.548000	0.26473	0.942000	0.38095	0.230000	0.25150	1.634000	0.37123	2.489000	0.83994	0.557000	0.71058	CCT		0.433	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341964.2	NM_152701		14	103	0	0	0	1	0	14	103					T	48266917	C	T	48266917	3	4	261	1	0	0	0	0	1	0	0	0	31	681	24	3	378	3	ABCA13	7	48266917	Missense_Mutation	SNP	C	TCGA-HI-7171-01A-12D-2114-08	16888340	48266917	110871746	13	12262											
PRDM14	63978	broad.mit.edu	37	chr8	70981761	70981761	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggctgctgctcaggaagggcGgcacttccctggggacgtgg	5	7	18	11	2	1	0	1	0	0	0	2	2	2	2	1	7	2	4	1	7	1	1			TCGA-HI-7171-01A-12D-2114-08	TCGA-HI-7171-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880022c4-45e7-4c49-92a2-231924b36310	d26a95e2-53bc-4bf8-8b58-3fe3899d106e	g.chr8:70981761G>A	ENST00000276594.2	-	2	536	c.335C>T	c.(334-336)cCg>cTg	p.P112L		NM_024504.3	NP_078780.1	Q9GZV8	PRD14_HUMAN	PR domain containing 14	112					cell fate specification (GO:0001708)|cell morphogenesis (GO:0000902)|fertilization (GO:0009566)|germ cell development (GO:0007281)|germ-line stem cell maintenance (GO:0030718)|histone H3-R26 methylation (GO:0034972)|homeostasis of number of cells within a tissue (GO:0048873)|inner cell mass cell fate commitment (GO:0001827)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|regulation of DNA methylation (GO:0044030)|regulation of gene expression, epigenetic (GO:0040029)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)			NS(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Breast(64;0.193)		Epithelial(68;0.00508)|all cancers(69;0.0259)|OV - Ovarian serous cystadenocarcinoma(28;0.0405)			CAGGAAGGGCGGCACTTCCCT	0.627																																					NSCLC(129;99 1813 5906 40656 46114)	ENST00000276594.2																			0				NS(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(334-336)cCg>cTg		PR domain containing 14							35	26	29					8																	70981761		2203	4300	6503	SO:0001583	missense	63978				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr8:70981761G>A	AF319458	CCDS6206.1	8q13.3	2013-01-08			ENSG00000147596	ENSG00000147596		"Zinc fingers, C2H2-type"	14001	protein-coding gene	gene with protein product		611781					Standard	NM_024504		Approved		uc003xym.3	Q9GZV8	OTTHUMG00000150495	ENST00000276594.2:c.335C>T	8.37:g.70981761G>A	ENSP00000276594:p.Pro112Leu						p.P112L	NM_024504.3	NP_078780.1	Q9GZV8	PRD14_HUMAN	Epithelial(68;0.00508)|all cancers(69;0.0259)|OV - Ovarian serous cystadenocarcinoma(28;0.0405)		2	536	-	Breast(64;0.193)		112					Q86UX9	Missense_Mutation	SNP	ENST00000276594.2	37	c.335C>T	CCDS6206.1	.	.	.	.	.	.	.	.	.	.	G	17.51	3.408687	0.62399	.	.	ENSG00000147596	ENST00000276594	T	0.12255	2.7	5.63	1.24	0.21308	.	0.196102	0.46145	N	0.000312	T	0.06735	0.0172	L	0.34521	1.04	0.09310	N	0.999999	B	0.18310	0.027	B	0.09377	0.004	T	0.41858	-0.9485	10	0.02654	T	1	-1.4711	4.9314	0.13919	0.1768:0.0:0.5282:0.295	.	112	Q9GZV8	PRD14_HUMAN	L	112	ENSP00000276594:P112L	ENSP00000276594:P112L	P	-	2	0	PRDM14	71144315	0.395000	0.25254	0.008000	0.14137	0.004000	0.04260	0.909000	0.28558	0.306000	0.22856	-0.140000	0.14226	CCG		0.627	PRDM14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318505.1			11	8	0	0	0	1	0	11	8					A	70981761	G	A	70981761	3	1	261	1	0	0	0	0	1	0	0	0	12455	1116	39	2	1408	2	PRDM14	8	70981761	Missense_Mutation	SNP	G	TCGA-HI-7171-01A-12D-2114-08		70981761	75382261	14	12263											
COL22A1	169044	broad.mit.edu	37	chr8	139890301	139890301	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtagcggagcgcgtctcccGtgttggtgttgcccccgtgg	2	11	16	12	5	1	0	0	0	1	0	2	1	1	1	3	3	3	3	3	3	1	3	rs192060323		TCGA-HI-7171-01A-12D-2114-08	TCGA-HI-7171-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880022c4-45e7-4c49-92a2-231924b36310	d26a95e2-53bc-4bf8-8b58-3fe3899d106e	g.chr8:139890301G>A	ENST00000303045.6	-	3	796	c.350C>T	c.(349-351)aCg>aTg	p.T117M	COL22A1_ENST00000435777.1_Missense_Mutation_p.T117M	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	117	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			CGCGTCTCCCGTGTTGGTGTT	0.706										HNSCC(7;0.00092)			G|||	1	0.000199681	0	0	5008	,	,		13142	0.001		0	False		,,,				2504	0					ENST00000303045.6																			0				breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211						c.(349-351)aCg>aTg		collagen, type XXII, alpha 1							19	22	21					8																	139890301		2188	4254	6442	SO:0001583	missense	169044				cell adhesion	collagen|cytoplasm	structural molecule activity	g.chr8:139890301G>A	AF406780	CCDS6376.1	8q24.3	2013-01-16			ENSG00000169436	ENSG00000169436		"Collagens"	22989	protein-coding gene	gene with protein product		610026					Standard	NM_152888		Approved		uc003yvd.3	Q8NFW1	OTTHUMG00000150035	ENST00000303045.6:c.350C>T	8.37:g.139890301G>A	ENSP00000303153:p.Thr117Met	HNSCC(7;0.00092)				COL22A1_ENST00000435777.1_Missense_Mutation_p.T117M	p.T117M	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0517)		3	796	-	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		117			VWFA.		B7ZMH0|C9K0G4|Q8IVT9	Missense_Mutation	SNP	ENST00000303045.6	37	c.350C>T	CCDS6376.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	21.2	4.111129	0.77210	.	.	ENSG00000169436	ENST00000303045;ENST00000435777;ENST00000545577	D;D	0.86627	-2.15;-2.15	5.2	5.2	0.72013	von Willebrand factor, type A (3);	0.000000	0.50627	U	0.000115	D	0.94072	0.8100	M	0.84585	2.705	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.94346	0.7575	9	.	.	.	.	17.7171	0.88341	0.0:0.0:1.0:0.0	.	117	Q8NFW1	COMA1_HUMAN	M	117	ENSP00000303153:T117M;ENSP00000387655:T117M	.	T	-	2	0	COL22A1	139959483	1.000000	0.71417	0.982000	0.44146	0.293000	0.27360	9.278000	0.95766	2.389000	0.81357	0.655000	0.94253	ACG		0.706	COL22A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000315905.2	XM_291257		5	4	0	0	0	1	0	5	4					A	139890301	G	A	139890301	3	1	261	1	0	0	0	0	1	0	0	0	3681	1145	40	1	4782	1	COL22A1	8	139890301	Missense_Mutation	SNP	G	TCGA-HI-7171-01A-12D-2114-08	68908540	139890301	6473721	15	12264											
A1CF	29974	broad.mit.edu	37	chr10	52595833	52595833	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tttgaggaggggattgctaaCctggtagcagtttcctcctc	7	13	12	9	0	0	1	0	1	0	0	3	3	2	3	3	4	3	4	3	4	2	5			TCGA-HI-7171-01A-12D-2114-08	TCGA-HI-7171-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880022c4-45e7-4c49-92a2-231924b36310	d26a95e2-53bc-4bf8-8b58-3fe3899d106e	g.chr10:52595833C>A	ENST00000373993.1	-	4	649		c.e4+1		A1CF_ENST00000395495.1_Splice_Site|A1CF_ENST00000374001.2_Splice_Site|A1CF_ENST00000395489.2_Splice_Site|A1CF_ENST00000373997.3_Splice_Site|A1CF_ENST00000373995.3_Splice_Site|A1CF_ENST00000282641.2_Splice_Site			Q9NQ94	A1CF_HUMAN	APOBEC1 complementation factor						cytidine to uridine editing (GO:0016554)|gene expression (GO:0010467)|mRNA modification (GO:0016556)|mRNA processing (GO:0006397)|protein stabilization (GO:0050821)	apolipoprotein B mRNA editing enzyme complex (GO:0030895)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)|single-stranded RNA binding (GO:0003727)			NS(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(14)|prostate(2)|skin(3)	29						GGATTGCTAACCTGGTAGCAG	0.463																																						ENST00000395489.2																			0				NS(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(14)|prostate(2)|skin(3)	29						c.e8+1		APOBEC1 complementation factor							99	90	93					10																	52595833		2203	4300	6503	SO:0001630	splice_region_variant	29974				cytidine to uridine editing|mRNA modification|mRNA processing|protein stabilization	apolipoprotein B mRNA editing enzyme complex|endoplasmic reticulum|nucleoplasm	nucleotide binding|protein binding|single-stranded RNA binding	g.chr10:52595833C>A	AF271790	CCDS7241.1, CCDS7242.1, CCDS7243.1, CCDS73133.1	10q21.1	2013-02-12			ENSG00000148584	ENSG00000148584		"RNA binding motif (RRM) containing"	24086	protein-coding gene	gene with protein product						11815617, 11072063	Standard	NM_014576		Approved	ACF, ASP, ACF64, ACF65, APOBEC1CF	uc001jjj.3	Q9NQ94	OTTHUMG00000018240	ENST00000373993.1:c.604+1G>T	10.37:g.52595833C>A						A1CF_ENST00000373995.3_Splice_Site|A1CF_ENST00000395495.1_Splice_Site|A1CF_ENST00000374001.1_Splice_Site|A1CF_ENST00000373993.1_Splice_Site|A1CF_ENST00000373997.3_Splice_Site|A1CF_ENST00000282641.2_Splice_Site		NM_001198819.1	NP_001185748.1	Q9NQ94	A1CF_HUMAN			8	980	-								A1L4F2|A8K7G7|B7ZM14|Q5SZQ0|Q9NQ93|Q9NQX8|Q9NQX9|Q9NXC9|Q9NZD3	Splice_Site	SNP	ENST00000373993.1	37		CCDS7242.1	.	.	.	.	.	.	.	.	.	.	C	19.02	3.746428	0.69418	.	.	ENSG00000148584	ENST00000374001;ENST00000373993;ENST00000373997;ENST00000373995;ENST00000282641;ENST00000395495;ENST00000395488;ENST00000395489	.	.	.	6.04	6.04	0.98038	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.0887	0.89466	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	A1CF	52265839	1.000000	0.71417	0.998000	0.56505	0.559000	0.35586	7.731000	0.84895	2.873000	0.98535	0.563000	0.77884	.		0.463	A1CF-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048086.2	NM_014576	Intron	29	49	1	0	2.75727e-19	1	3.12844e-19	29	49					A	52595833	C	A	52595833	5	1	261	1	0	0	0	0	0	0	1	0	2	521	18	5	1211	5	A1CF	10	52595833	Splice_Site	SNP	C	TCGA-HI-7171-01A-12D-2114-08		52595833	82938914	16	12265											
MKI67	4288	broad.mit.edu	37	chr10	129905901	129905901	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttcagggctgagagctccttCtgtacgtcccttttctccaa	6	14	8	13	1	3	1	1	1	2	1	6	2	5	1	3	1	2	3	3	1	2	5			TCGA-HI-7171-01A-12D-2114-08	TCGA-HI-7171-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880022c4-45e7-4c49-92a2-231924b36310	d26a95e2-53bc-4bf8-8b58-3fe3899d106e	g.chr10:129905901C>T	ENST00000368654.3	-	13	4578	c.4203G>A	c.(4201-4203)caG>caA	p.Q1401Q	MKI67_ENST00000368653.3_Silent_p.Q1041Q	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	1401	16 X 122 AA approximate repeats.				cell proliferation (GO:0008283)|cellular response to heat (GO:0034605)|DNA metabolic process (GO:0006259)|hyaluronan metabolic process (GO:0030212)|meiotic nuclear division (GO:0007126)|organ regeneration (GO:0031100)|response to organic cyclic compound (GO:0014070)	chromosome, centromeric region (GO:0000775)|condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				AGAGCTCCTTCTGTACGTCCC	0.493																																						ENST00000368654.3																			0				NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159						c.(4201-4203)caG>caA		marker of proliferation Ki-67							285	264	271					10																	129905901		2203	4300	6503	SO:0001819	synonymous_variant	4288				cell proliferation	nucleolus	ATP binding|protein C-terminus binding	g.chr10:129905901C>T	X65550	CCDS7659.1, CCDS53588.1	10q26.2	2014-06-12	2013-10-10		ENSG00000148773	ENSG00000148773			7107	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 105"	176741	"antigen identified by monoclonal antibody Ki-67"			2571566, 16206250	Standard	NM_002417		Approved	MIB-, PPP1R105	uc001lke.3	P46013	OTTHUMG00000019255	ENST00000368654.3:c.4203G>A	10.37:g.129905901C>T						MKI67_ENST00000368653.3_Silent_p.Q1041Q	p.Q1401Q	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN			13	4578	-		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)	1401			16 X 122 AA approximate repeats.		Q5VWH2	Silent	SNP	ENST00000368654.3	37	c.4203G>A	CCDS7659.1																																																																																				0.493	MKI67-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050999.1	NM_002417		4	205	0	0	0	1	0	4	205					T	129905901	C	T	129905901	2	4	261	1	0	0	0	0	0	0	0	1	9598	912	32	3		3	MKI67	10	129905901	Silent	SNP	C	TCGA-HI-7171-01A-12D-2114-08	77310068	129905901	5628846	17	12266											
SIGIRR	59307	broad.mit.edu	37	chr11	407863	407863	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcctggtaccagagcagcacGttgagacggcacttgacata	11	8	11	11	2	0	3	0	2	0	2	1	4	1	3	2	2	3	5	2	2	2	4			TCGA-HI-7171-01A-12D-2114-08	TCGA-HI-7171-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880022c4-45e7-4c49-92a2-231924b36310	d26a95e2-53bc-4bf8-8b58-3fe3899d106e	g.chr11:407863G>A	ENST00000431843.2	-	5	741	c.435C>T	c.(433-435)aaC>aaT	p.N145N	SIGIRR_ENST00000531205.1_Silent_p.N145N|SIGIRR_ENST00000382520.2_Silent_p.N145N|SIGIRR_ENST00000332725.3_Silent_p.N145N|SIGIRR_ENST00000397632.3_Silent_p.N145N|SIGIRR_ENST00000529486.1_5'UTR	NM_001135054.1	NP_001128526.1	Q6IA17	SIGIR_HUMAN	single immunoglobulin and toll-interleukin 1 receptor (TIR) domain	145					acute-phase response (GO:0006953)|negative regulation of chemokine biosynthetic process (GO:0045079)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|negative regulation of lipopolysaccharide-mediated signaling pathway (GO:0031665)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|membrane (GO:0016020)				cervix(2)|endometrium(1)|liver(1)|lung(5)|prostate(2)|skin(1)|urinary_tract(1)	13		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)		AGAGCAGCACGTTGAGACGGC	0.687																																						ENST00000431843.2																			0				cervix(2)|endometrium(1)|liver(1)|lung(5)|prostate(2)|skin(1)|urinary_tract(1)	13						c.(433-435)aaC>aaT		single immunoglobulin and toll-interleukin 1 receptor (TIR) domain							61	66	64					11																	407863		2202	4297	6499	SO:0001819	synonymous_variant	59307				acute-phase response|innate immune response|negative regulation of chemokine biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of lipopolysaccharide-mediated signaling pathway|negative regulation of sequence-specific DNA binding transcription factor activity	integral to membrane	protein binding|transmembrane receptor activity	g.chr11:407863G>A		CCDS31325.1	11p15.5	2013-01-11	2005-10-10					"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	30575	protein-coding gene	gene with protein product	"single immunoglobulin domain IL1R1 related"	605478				10346978	Standard	NM_021805		Approved	TIR8	uc001lpe.1	Q6IA17		ENST00000431843.2:c.435C>T	11.37:g.407863G>A						SIGIRR_ENST00000332725.3_Silent_p.N145N|SIGIRR_ENST00000529486.1_5'UTR|SIGIRR_ENST00000397632.3_Silent_p.N145N|SIGIRR_ENST00000531205.1_Silent_p.N145N|SIGIRR_ENST00000382520.2_Silent_p.N145N	p.N145N	NM_001135054.1	NP_001128526.1	Q6IA17	SIGIR_HUMAN		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)	5	741	-		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)	145					Q3KQY2|Q6UXI3|Q9H733	Silent	SNP	ENST00000431843.2	37	c.435C>T	CCDS31325.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	18.45|18.45	3.626262|3.626262	0.66901|0.66901	.|.	.|.	ENSG00000185187|ENSG00000185187	ENST00000530494|ENST00000528209	.|T	.|0.18810	.|2.19	3.68|3.68	-1.98|-1.98	0.07480|0.07480	.|.	.|.	.|.	.|.	.|.	T|T	0.30198|0.30198	0.0757|0.0757	.|.	.|.	.|.	0.44871|0.44871	D|D	0.997889|0.997889	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.28106|0.28106	-1.0054|-1.0054	5|6	0.87932|0.62326	D|D	0|0.03	.|.	10.2241|10.2241	0.43214|0.43214	0.4171:0.0:0.5829:0.0|0.4171:0.0:0.5829:0.0	.|.	.|.	.|.	.|.	C|M	101|53	.|ENSP00000435135:T53M	ENSP00000434030:R101C|ENSP00000435135:T53M	R|T	-|-	1|2	0|0	SIGIRR|SIGIRR	397863|397863	0.000000|0.000000	0.05858|0.05858	0.421000|0.421000	0.26609|0.26609	0.920000|0.920000	0.55202|0.55202	-1.214000|-1.214000	0.02988|0.02988	-0.254000|-0.254000	0.09500|0.09500	0.305000|0.305000	0.20034|0.20034	CGT|ACG		0.687	SIGIRR-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383884.3	NM_021805		19	120	0	0	0	1	0	19	120					A	407863	G	A	407863	2	1	261	1	0	0	0	0	0	0	0	1	14304	1136	40	1		1	SIGIRR	11	407863	Silent	SNP	G	TCGA-HI-7171-01A-12D-2114-08		407863	134598653	18	12267											
OR51G1	79324	broad.mit.edu	37	chr11	4945119	4945119	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggagagcacttctaagcaCtgagcttagccccatcttga	11	9	10	11	0	2	3	0	2	2	1	2	5	2	3	2	1	4	3	2	1	2	4			TCGA-HI-7171-01A-12D-2114-08	TCGA-HI-7171-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880022c4-45e7-4c49-92a2-231924b36310	d26a95e2-53bc-4bf8-8b58-3fe3899d106e	g.chr11:4945119C>A	ENST00000321961.2	-	1	518	c.451G>T	c.(451-453)Gtg>Ttg	p.V151L	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	NM_001005237.1	NP_001005237.1	Q8NGK1	O51G1_HUMAN	olfactory receptor, family 51, subfamily G, member 1	151						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(3)|skin(4)|soft_tissue(1)	25		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.58e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		CTTCTAAGCACTGAGCTTAGC	0.532																																						ENST00000321961.2																			0				NS(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(3)|skin(4)|soft_tissue(1)	25						c.(451-453)Gtg>Ttg		olfactory receptor, family 51, subfamily G, member 1							102	85	91					11																	4945119		2201	4298	6499	SO:0001583	missense	79324				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4945119C>A	AB065793	CCDS31366.1	11p15.4	2012-08-09			ENSG00000176879	ENSG00000176879		"GPCR / Class A : Olfactory receptors"	14738	protein-coding gene	gene with protein product				OR51G3P			Standard	NM_001005237		Approved		uc010qyr.2	Q8NGK1	OTTHUMG00000066532	ENST00000321961.2:c.451G>T	11.37:g.4945119C>A	ENSP00000322546:p.Val151Leu					MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	p.V151L	NM_001005237.1	NP_001005237.1	Q8NGK1	O51G1_HUMAN		Epithelial(150;2.58e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)	1	518	-		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)	151					B9EGW8|Q6IFH6	Missense_Mutation	SNP	ENST00000321961.2	37	c.451G>T	CCDS31366.1	.	.	.	.	.	.	.	.	.	.	C	0	-2.593264	0.00126	.	.	ENSG00000176879	ENST00000321961	T	0.35789	1.29	4.2	-1.09	0.09904	GPCR, rhodopsin-like superfamily (1);	0.436815	0.16621	U	0.206478	T	0.12902	0.0313	N	0.04959	-0.14	0.09310	N	1	B	0.09022	0.002	B	0.15052	0.012	T	0.34900	-0.9810	10	0.02654	T	1	.	8.9718	0.35910	0.0:0.5789:0.0:0.4211	.	151	Q8NGK1	O51G1_HUMAN	L	151	ENSP00000322546:V151L	ENSP00000322546:V151L	V	-	1	0	OR51G1	4901695	0.000000	0.05858	0.000000	0.03702	0.101000	0.19017	-2.861000	0.00726	-0.133000	0.11537	-0.252000	0.11476	GTG		0.532	OR51G1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142345.1	NM_001005237		34	35	1	0	5.04308e-16	1	5.61399e-16	34	35					A	4945119	C	A	4945119	3	1	261	1	0	0	0	0	1	0	0	0	11098	565	20	5	516	5	OR51G1	11	4945119	Missense_Mutation	SNP	C	TCGA-HI-7171-01A-12D-2114-08	4537256	4945119	130061397	19	12268											
AHNAK	79026	broad.mit.edu	37	chr11	62289690	62289690	+	Nonsense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaatcctggcatgctgaattTgggcattttcaccttgggca	9	13	10	9	0	1	1	1	1	0	0	2	1	2	1	2	3	1	4	2	3	2	4	rs377426848		TCGA-HI-7171-01A-12D-2114-08	TCGA-HI-7171-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880022c4-45e7-4c49-92a2-231924b36310	d26a95e2-53bc-4bf8-8b58-3fe3899d106e	g.chr11:62289690T>A	ENST00000378024.4	-	5	12473	c.12199A>T	c.(12199-12201)Aaa>Taa	p.K4067*	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	4067					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				ATGCTGAATTTGGGCATTTTC	0.493																																						ENST00000378024.4																			0				NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268						c.(12199-12201)Aaa>Taa		AHNAK nucleoprotein							178	188	185					11																	62289690		2202	4299	6501	SO:0001587	stop_gained	79026				nervous system development	nucleus	protein binding	g.chr11:62289690T>A	M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"desmoyokin"	103390	"AHNAK nucleoprotein (desmoyokin)"			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.12199A>T	11.37:g.62289690T>A	ENSP00000367263:p.Lys4067*					AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	p.K4067*	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN			5	12473	-		Melanoma(852;0.155)	4067					A1A586	Nonsense_Mutation	SNP	ENST00000378024.4	37	c.12199A>T	CCDS31584.1	.	.	.	.	.	.	.	.	.	.	-	53	21.018077	0.99936	.	.	ENSG00000124942	ENST00000378024	.	.	.	3.89	3.89	0.44902	.	0.206647	0.29838	N	0.011062	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.3896	0.55350	0.0:0.0:0.0:1.0	.	.	.	.	X	4067	.	ENSP00000367263:K4067X	K	-	1	0	AHNAK	62046266	1.000000	0.71417	1.000000	0.80357	0.351000	0.29236	3.225000	0.51246	1.409000	0.46915	0.318000	0.21364	AAA		0.493	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060		31	265	0	0	0	1	0	31	265					A	62289690	T	A	62289690	4	1	261	1	0	0	0	0	0	1	0	0	414	1821	63	5	5593	5	AHNAK	11	62289690	Nonsense_Mutation	SNP	T	TCGA-HI-7171-01A-12D-2114-08	57344571	62289690	72716826	20	12269											
SESN3	143686	broad.mit.edu	37	chr11	94924639	94924639	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caacatgtaaaactggctccGcaagaaagactccaggtact	15	7	8	11	1	0	2	0	0	0	2	2	2	2	2	2	2	3	4	2	2	6	2			TCGA-HI-7171-01A-12D-2114-08	TCGA-HI-7171-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880022c4-45e7-4c49-92a2-231924b36310	d26a95e2-53bc-4bf8-8b58-3fe3899d106e	g.chr11:94924639G>A	ENST00000536441.1	-	3	607	c.271C>T	c.(271-273)Cgg>Tgg	p.R91W	SESN3_ENST00000416495.2_Missense_Mutation_p.R91W|SESN3_ENST00000393234.1_Missense_Mutation_p.R91W|RP11-712B9.2_ENST00000534891.1_RNA|RP11-712B9.2_ENST00000534864.1_RNA|SESN3_ENST00000278499.2_Missense_Mutation_p.R13W|SESN3_ENST00000537480.1_5'Flank	NM_001271594.1|NM_144665.2	NP_001258523.1|NP_653266.2	P58005	SESN3_HUMAN	sestrin 3	91					glucose homeostasis (GO:0042593)|regulation of protein kinase B signaling (GO:0051896)|regulation of response to reactive oxygen species (GO:1901031)|response to insulin (GO:0032868)	nucleus (GO:0005634)				endometrium(5)|large_intestine(6)|lung(3)|skin(1)|stomach(1)	16		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)		BRCA - Breast invasive adenocarcinoma(274;0.234)		AACTGGCTCCGCAAGAAAGAC	0.443																																						ENST00000536441.1																			0				endometrium(5)|large_intestine(6)|lung(3)|skin(1)|stomach(1)	16						c.(271-273)Cgg>Tgg		sestrin 3							194	168	177					11																	94924639		2201	4298	6499	SO:0001583	missense	143686				cell cycle arrest	nucleus		g.chr11:94924639G>A	AK096300	CCDS8303.1, CCDS60938.1	11q21	2005-09-18			ENSG00000149212	ENSG00000149212			23060	protein-coding gene	gene with protein product		607768				12607115	Standard	NM_144665		Approved	SEST3, MGC29667	uc001pfj.4	P58005	OTTHUMG00000167829	ENST00000536441.1:c.271C>T	11.37:g.94924639G>A	ENSP00000441927:p.Arg91Trp					RP11-712B9.2_ENST00000534864.1_RNA|RP11-712B9.2_ENST00000534891.1_RNA|SESN3_ENST00000393234.1_Missense_Mutation_p.R91W|SESN3_ENST00000416495.2_Missense_Mutation_p.R91W|SESN3_ENST00000278499.2_Missense_Mutation_p.R13W	p.R91W	NM_001271594.1|NM_144665.2	NP_001258523.1|NP_653266.2	P58005	SESN3_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.234)	3	607	-		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)	91					B7Z7P9|Q96AD1	Missense_Mutation	SNP	ENST00000536441.1	37	c.271C>T	CCDS8303.1	.	.	.	.	.	.	.	.	.	.	G	15.02	2.710400	0.48517	.	.	ENSG00000149212	ENST00000536441;ENST00000278499;ENST00000393234;ENST00000416495;ENST00000542176	T;T;T;T;T	0.25579	1.79;1.79;1.79;1.79;1.79	5.82	1.31	0.21738	.	0.000000	0.85682	D	0.000000	T	0.52175	0.1718	M	0.80183	2.485	0.58432	D	0.999997	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;0.999;1.0	T	0.60068	-0.7335	10	0.87932	D	0	-3.6172	16.0308	0.80577	0.0:0.0:0.453:0.547	.	13;91;91	B7Z7P9;P58005-3;P58005	.;.;SESN3_HUMAN	W	91;13;91;91;68	ENSP00000441927:R91W;ENSP00000278499:R13W;ENSP00000376926:R91W;ENSP00000407008:R91W;ENSP00000439580:R68W	ENSP00000278499:R13W	R	-	1	2	SESN3	94564287	1.000000	0.71417	0.997000	0.53966	0.677000	0.39632	0.907000	0.28531	0.021000	0.15133	0.655000	0.94253	CGG		0.443	SESN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396475.3	NM_144665		50	78	0	0	0	1	0	50	78					A	94924639	G	A	94924639	3	1	261	1	0	0	0	0	1	0	0	0	14126	1086	38	1	1239	1	SESN3	11	94924639	Missense_Mutation	SNP	G	TCGA-HI-7171-01A-12D-2114-08	32634949	94924639	40081877	21	12270											
BCAT1	586	broad.mit.edu	37	chr12	25047312	25047312	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actctgaggaccactccaccGtcagcatatgatccgtgaac	11	8	8	14	2	2	3	1	3	1	0	4	4	4	4	4	1	2	1	4	1	2	1	rs17374285	byFrequency	TCGA-HI-7171-01A-12D-2114-08	TCGA-HI-7171-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880022c4-45e7-4c49-92a2-231924b36310	d26a95e2-53bc-4bf8-8b58-3fe3899d106e	g.chr12:25047312G>A	ENST00000261192.7	-	3	702	c.176C>T	c.(175-177)aCg>aTg	p.T59M	BCAT1_ENST00000538118.1_Missense_Mutation_p.T58M|BCAT1_ENST00000539780.1_Missense_Mutation_p.T59M|BCAT1_ENST00000539282.1_Missense_Mutation_p.T71M|BCAT1_ENST00000342945.5_Missense_Mutation_p.T35M|BCAT1_ENST00000544418.1_5'UTR	NM_001178091.1|NM_005504.6	NP_001171562.1|NP_005495.2	P54687	BCAT1_HUMAN	branched chain amino-acid transaminase 1, cytosolic	59			T -> M (in dbSNP:rs17374285).		branched-chain amino acid biosynthetic process (GO:0009082)|branched-chain amino acid catabolic process (GO:0009083)|cell proliferation (GO:0008283)|cellular nitrogen compound metabolic process (GO:0034641)|G1/S transition of mitotic cell cycle (GO:0000082)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	branched-chain-amino-acid transaminase activity (GO:0004084)|L-isoleucine transaminase activity (GO:0052656)|L-leucine transaminase activity (GO:0052654)|L-valine transaminase activity (GO:0052655)			breast(1)|large_intestine(1)|lung(3)|prostate(2)	7	Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Ovarian(17;0.107)|Colorectal(261;0.196)				Gabapentin(DB00996)|L-Isoleucine(DB00167)|L-Leucine(DB00149)|L-Valine(DB00161)	CCACTCCACCGTCAGCATATG	0.463													G|||	9	0.00179712	0.003	0	5008	,	,		18577	0		0.005	False		,,,				2504	0					ENST00000261192.7																			0				breast(1)|large_intestine(1)|lung(3)|prostate(2)	7						c.(175-177)aCg>aTg		branched chain amino-acid transaminase 1, cytosolic	Gabapentin(DB00996)|L-Glutamic Acid(DB00142)|L-Isoleucine(DB00167)|L-Leucine(DB00149)|L-Valine(DB00161)|Pyridoxal Phosphate(DB00114)	G	MET/THR,MET/THR,MET/THR,MET/THR,MET/THR	6,3830		0,6,1912	98	97	97		176,104,212,173,176	1.8	0.1	12	dbSNP_123	97	20,8232		0,20,4106	yes	missense,missense,missense,missense,missense	BCAT1	NM_001178091.1,NM_001178092.1,NM_001178093.1,NM_001178094.1,NM_005504.6	81,81,81,81,81	0,26,6018	AA,AG,GG		0.2424,0.1564,0.2151	benign,benign,benign,benign,benign	59/350,35/326,71/399,58/386,59/387	25047312	26,12062	1918	4126	6044	SO:0001583	missense	586				branched chain family amino acid biosynthetic process|branched chain family amino acid catabolic process|cell proliferation|G1/S transition of mitotic cell cycle	cytosol	L-isoleucine transaminase activity|L-leucine transaminase activity|L-valine transaminase activity	g.chr12:25047312G>A		CCDS44845.1, CCDS53760.1, CCDS53761.1, CCDS53762.1, CCDS53763.1	12p12.1	2012-10-02	2010-05-07		ENSG00000060982	ENSG00000060982	2.6.1.42		976	protein-coding gene	gene with protein product		113520	"branched chain aminotransferase 1, cytosolic"	BCT1		9165094	Standard	NM_005504		Approved		uc010six.2	P54687	OTTHUMG00000169053	ENST00000261192.7:c.176C>T	12.37:g.25047312G>A	ENSP00000261192:p.Thr59Met					BCAT1_ENST00000539780.1_Missense_Mutation_p.T59M|BCAT1_ENST00000538118.1_Missense_Mutation_p.T58M|BCAT1_ENST00000342945.5_Missense_Mutation_p.T35M|BCAT1_ENST00000544418.1_5'UTR|BCAT1_ENST00000539282.1_Missense_Mutation_p.T71M	p.T59M	NM_001178091.1|NM_005504.6	NP_001171562.1|NP_005495.2	P54687	BCAT1_HUMAN			3	702	-	Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Ovarian(17;0.107)|Colorectal(261;0.196)		59		T -> M (in dbSNP:rs17374285).			B3KY27|B7Z2M5|B7Z5L0|F5H5E4|Q68DQ7|Q96MY9	Missense_Mutation	SNP	ENST00000261192.7	37	c.176C>T	CCDS44845.1	4	0.0018315018315018315	0	0.0	0	0.0	0	0.0	4	0.005277044854881266	G	3.262	-0.150975	0.06585	0.001564	0.002424	ENSG00000060982	ENST00000261192;ENST00000538118;ENST00000342945;ENST00000539282;ENST00000539780;ENST00000546285	T;T;T;T;T;T	0.42900	0.96;0.96;0.96;0.96;0.96;0.96	5.55	1.83	0.25207	.	0.221094	0.47093	N	0.000246	T	0.29223	0.0727	L	0.51422	1.61	0.34946	D	0.750803	B;D;B;P;B	0.53619	0.136;0.961;0.064;0.735;0.205	B;B;B;B;B	0.44224	0.063;0.444;0.029;0.186;0.085	T	0.43048	-0.9415	10	0.23302	T	0.38	-1.1809	12.9301	0.58282	0.2726:0.0:0.7274:0.0	rs17374285;rs52835962;rs17374285	59;71;35;59;58	B7Z5L0;F5H5E4;B3KY27;P54687;Q68DQ7	.;.;.;BCAT1_HUMAN;.	M	59;58;35;71;59;35	ENSP00000261192:T59M;ENSP00000440817:T58M;ENSP00000339805:T35M;ENSP00000443459:T71M;ENSP00000440827:T59M;ENSP00000438593:T35M	ENSP00000261192:T59M	T	-	2	0	BCAT1	24938579	0.609000	0.26975	0.061000	0.19648	0.156000	0.22039	0.845000	0.27668	-0.061000	0.13110	-0.797000	0.03246	ACG		0.463	BCAT1-001	KNOWN	upstream_uORF|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000402080.1	NM_005504		10	14	0	0	0	1	0	10	14					A	25047312	G	A	25047312	3	1	261	1	0	0	0	0	1	0	0	0	1354	1145	40	1	1020	1	BCAT1	12	25047312	Missense_Mutation	SNP	G	TCGA-HI-7171-01A-12D-2114-08		25047312	108804583	22	12271											
OR6C76	390326	broad.mit.edu	37	chr12	55820867	55820867	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agtagctatactcaatacctCtgtcgctcctatgctgaatc	10	13	6	12	1	2	1	1	1	1	0	5	1	3	1	2	0	4	4	2	0	7	5			TCGA-HI-7171-01A-12D-2114-08	TCGA-HI-7171-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880022c4-45e7-4c49-92a2-231924b36310	d26a95e2-53bc-4bf8-8b58-3fe3899d106e	g.chr12:55820867C>G	ENST00000328314.3	+	1	830	c.830C>G	c.(829-831)tCt>tGt	p.S277C		NM_001005183.1	NP_001005183.1	A6NM76	O6C76_HUMAN	olfactory receptor, family 6, subfamily C, member 76	277						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|central_nervous_system(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						CTCAATACCTCTGTCGCTCCT	0.378																																						ENST00000328314.3																			0				NS(1)|central_nervous_system(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						c.(829-831)tCt>tGt		olfactory receptor, family 6, subfamily C, member 76							74	69	71					12																	55820867		2203	4299	6502	SO:0001583	missense	390326				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr12:55820867C>G		CCDS31823.1	12q13.2	2013-09-23			ENSG00000185821	ENSG00000185821		"GPCR / Class A : Olfactory receptors"	31305	protein-coding gene	gene with protein product							Standard	NM_001005183		Approved		uc010spm.2	A6NM76	OTTHUMG00000169956	ENST00000328314.3:c.830C>G	12.37:g.55820867C>G	ENSP00000328402:p.Ser277Cys						p.S277C	NM_001005183.1	NP_001005183.1	A6NM76	O6C76_HUMAN			1	830	+			277						Missense_Mutation	SNP	ENST00000328314.3	37	c.830C>G	CCDS31823.1	.	.	.	.	.	.	.	.	.	.	c	6.352	0.432979	0.12045	.	.	ENSG00000185821	ENST00000328314	T	0.00107	8.72	4.11	3.21	0.36854	GPCR, rhodopsin-like superfamily (1);	0.149414	0.31233	N	0.008001	T	0.00412	0.0013	M	0.87038	2.855	0.09310	N	1	D	0.63046	0.992	D	0.64776	0.929	T	0.30119	-0.9989	10	0.87932	D	0	.	7.0274	0.24948	0.1887:0.5969:0.2144:0.0	.	277	A6NM76	O6C76_HUMAN	C	277	ENSP00000328402:S277C	ENSP00000328402:S277C	S	+	2	0	OR6C76	54107134	0.060000	0.20803	0.014000	0.15608	0.009000	0.06853	3.017000	0.49615	1.053000	0.40415	-0.337000	0.08149	TCT		0.378	OR6C76-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406675.1	NM_001005183		22	29	0	0	0	1	0	22	29					G	55820867	C	G	55820867	3	3	261	1	0	0	0	0	1	0	0	0	11200	913	32	5	832	5	OR6C76	12	55820867	Missense_Mutation	SNP	C	TCGA-HI-7171-01A-12D-2114-08	30773555	55820867	78031028	23	12272											
MYF5	4617	broad.mit.edu	37	chr12	81110950	81110950	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gacgagtttgtgccgcgagtGgctgccttcggagcgcacaa	7	8	15	11	5	0	0	0	0	0	0	1	4	0	1	2	2	3	3	2	2	1	2			TCGA-HI-7171-01A-12D-2114-08	TCGA-HI-7171-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880022c4-45e7-4c49-92a2-231924b36310	d26a95e2-53bc-4bf8-8b58-3fe3899d106e	g.chr12:81110950G>T	ENST00000228644.3	+	1	260	c.108G>T	c.(106-108)gtG>gtT	p.V36V		NM_005593.2	NP_005584.2	P13349	MYF5_HUMAN	myogenic factor 5	36					camera-type eye development (GO:0043010)|cartilage condensation (GO:0001502)|embryonic skeletal system morphogenesis (GO:0048704)|extracellular matrix organization (GO:0030198)|muscle cell differentiation (GO:0042692)|muscle cell fate commitment (GO:0042693)|muscle organ development (GO:0007517)|muscle tissue morphogenesis (GO:0060415)|ossification (GO:0001503)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell-matrix adhesion (GO:0001952)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|skeletal muscle cell differentiation (GO:0035914)|skeletal muscle tissue development (GO:0007519)|somitogenesis (GO:0001756)|transcription from RNA polymerase II promoter (GO:0006366)	nucleoplasm (GO:0005654)	protein heterodimerization activity (GO:0046982)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(8)|lung(15)|ovary(2)|pancreas(1)	30						TGCCGCGAGTGGCTGCCTTCG	0.612																																						ENST00000228644.3																			0				central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(8)|lung(15)|ovary(2)|pancreas(1)	30						c.(106-108)gtG>gtT		myogenic factor 5							41	38	39					12																	81110950		2203	4300	6503	SO:0001819	synonymous_variant	4617				muscle cell fate commitment|positive regulation of muscle cell differentiation|skeletal muscle tissue development	nucleoplasm	DNA binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity	g.chr12:81110950G>T		CCDS9020.1	12q21	2013-05-21			ENSG00000111049	ENSG00000111049		"Basic helix-loop-helix proteins"	7565	protein-coding gene	gene with protein product		159990				8978788, 12105204	Standard	NM_005593		Approved	bHLHc2	uc001szg.2	P13349	OTTHUMG00000170166	ENST00000228644.3:c.108G>T	12.37:g.81110950G>T							p.V36V	NM_005593.2	NP_005584.2	P13349	MYF5_HUMAN			1	260	+			36					Q6ISR9	Silent	SNP	ENST00000228644.3	37	c.108G>T	CCDS9020.1																																																																																				0.612	MYF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407757.1	NM_005593		10	13	1	0	0.00829132	1	0.00889432	10	13					T	81110950	G	T	81110950	2	4	261	1	0	0	0	0	0	0	0	1	10027	1335	47	5		5	MYF5	12	81110950	Silent	SNP	G	TCGA-HI-7171-01A-12D-2114-08	25290083	81110950	52740945	24	12273											
HNF1A	6927	broad.mit.edu	37	chr12	121434123	121434123	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagtaccctcaagcagcggCggtcccttagtgacagtgtc	9	8	12	12	2	1	1	1	1	0	0	3	2	2	1	2	2	3	2	2	2	4	2			TCGA-HI-7171-01A-12D-2114-08	TCGA-HI-7171-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880022c4-45e7-4c49-92a2-231924b36310	d26a95e2-53bc-4bf8-8b58-3fe3899d106e	g.chr12:121434123C>T	ENST00000257555.6	+	5	1240	c.1014C>T	c.(1012-1014)ggC>ggT	p.G338G	HNF1A_ENST00000544413.1_Silent_p.G338G|HNF1A_ENST00000400024.2_Silent_p.G338G|HNF1A_ENST00000538626.1_Intron|HNF1A_ENST00000543427.1_Silent_p.G221G|HNF1A_ENST00000402929.1_Silent_p.G338G|HNF1A_ENST00000541395.1_Silent_p.G338G			P20823	HNF1A_HUMAN	HNF1 homeobox A	338					glucose homeostasis (GO:0042593)|glucose import (GO:0046323)|insulin secretion (GO:0030073)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|renal glucose absorption (GO:0035623)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|protein dimerization activity (GO:0046983)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(8)|large_intestine(19)|liver(175)|lung(9)|ovary(2)|prostate(1)|urinary_tract(1)	221	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					CAAGCAGCGGCGGTCCCTTAG	0.622									Hepatic Adenoma, Familial Clustering of																													ENST00000257555.6																			0				breast(3)|central_nervous_system(2)|cervix(1)|endometrium(8)|large_intestine(19)|liver(175)|lung(9)|ovary(2)|prostate(1)|urinary_tract(1)	221						c.(1012-1014)ggC>ggT		HNF1 homeobox A							150	112	125					12																	121434123		2203	4300	6503	SO:0001819	synonymous_variant	6927	Hepatic Adenoma, Familial Clustering of	Familial Cancer Database	incl. Maturity-Onset Diabetes of the Young type 3, MODY3	glucose homeostasis|glucose import|insulin secretion|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|renal glucose absorption	cytoplasm|nucleus|protein complex	DNA binding|protein dimerization activity|protein heterodimerization activity|protein homodimerization activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	g.chr12:121434123C>T	M57732	CCDS9209.1	12q24.31	2014-09-17	2007-08-24	2007-08-24	ENSG00000135100	ENSG00000135100		"Homeoboxes / HNF class"	11621	protein-coding gene	gene with protein product		142410	"transcription factor 1, hepatic; LF-B1, hepatic nuclear factor (HNF1), albumin proximal factor"	MODY3, TCF1		1535333, 7795649	Standard	NM_000545		Approved	HNF1, LFB1	uc001tzg.3	P20823	OTTHUMG00000151015	ENST00000257555.6:c.1014C>T	12.37:g.121434123C>T						HNF1A_ENST00000544413.1_Silent_p.G338G|HNF1A_ENST00000543427.1_Silent_p.G221G|HNF1A_ENST00000402929.1_Silent_p.G338G|HNF1A_ENST00000400024.2_Silent_p.G338G|HNF1A_ENST00000541395.1_Silent_p.G338G|HNF1A_ENST00000538626.1_Intron	p.G338G			P20823	HNF1A_HUMAN			5	1240	+	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)		338					A5Z2R8|E0YMJ5|E0YMK0|E0YMK1|E2I9R4|E2I9R5|F5H5U3|Q2M3H2|Q99861	Silent	SNP	ENST00000257555.6	37	c.1014C>T	CCDS9209.1																																																																																				0.622	HNF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320957.5	NM_000545		29	118	0	0	0	1	0	29	118					T	121434123	C	T	121434123	2	4	261	1	0	0	0	0	0	0	0	1	7251	755	27	1		1	HNF1A	12	121434123	Silent	SNP	C	TCGA-HI-7171-01A-12D-2114-08	40323173	121434123	12417772	25	12274											
ATP6V0A2	23545	broad.mit.edu	37	chr12	124241431	124241431	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgacaccacctatggcgtctTgctactgctcccggttatcg	6	12	9	14	3	1	1	0	1	1	0	3	1	2	1	3	2	3	3	3	2	3	4			TCGA-HI-7171-01A-12D-2114-08	TCGA-HI-7171-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880022c4-45e7-4c49-92a2-231924b36310	d26a95e2-53bc-4bf8-8b58-3fe3899d106e	g.chr12:124241431T>G	ENST00000330342.3	+	19	2611	c.2363T>G	c.(2362-2364)tTg>tGg	p.L788W	ATP6V0A2_ENST00000543687.1_3'UTR|ATP6V0A2_ENST00000544833.1_Missense_Mutation_p.L70W	NM_012463.3	NP_036595.2	Q9Y487	VPP2_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit a2	788					ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|immune response (GO:0006955)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	acrosomal vesicle (GO:0001669)|cytoplasm (GO:0005737)|endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)|vacuolar proton-transporting V-type ATPase, V0 domain (GO:0000220)	hydrogen ion transmembrane transporter activity (GO:0015078)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|liver(1)|lung(10)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	26	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000224)|Epithelial(86;0.000625)|all cancers(50;0.00775)		TATGGCGTCTTGCTACTGCTC	0.552																																						ENST00000330342.3																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|liver(1)|lung(10)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	26						c.(2362-2364)tTg>tGg		ATPase, H+ transporting, lysosomal V0 subunit a2							228	175	193					12																	124241431		2203	4300	6503	SO:0001583	missense	23545				ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|immune response|insulin receptor signaling pathway|transferrin transport	endosome membrane|integral to membrane|plasma membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	hydrogen ion transmembrane transporter activity|protein binding	g.chr12:124241431T>G	AF112972	CCDS9254.1	12q24.31	2010-04-21	2006-01-20		ENSG00000185344	ENSG00000185344		"ATPases / V-type"	18481	protein-coding gene	gene with protein product	"infantile malignant osteopetrosis"	611716	"infantile malignant osteopetrosis", "ATPase, H+ transporting, lysosomal V0 subunit a isoform 2", "ATPase, H+ transporting, lysosomal V0 subunit A2"			2247090, 18157129	Standard	NM_012463		Approved	TJ6, a2, TJ6s, TJ6M, ATP6a2, J6B7, ATP6N1D, Vph1, Stv1	uc001ufr.3	Q9Y487	OTTHUMG00000168723	ENST00000330342.3:c.2363T>G	12.37:g.124241431T>G	ENSP00000332247:p.Leu788Trp					ATP6V0A2_ENST00000544833.1_Missense_Mutation_p.L70W|ATP6V0A2_ENST00000543687.1_3'UTR	p.L788W	NM_012463.3	NP_036595.2	Q9Y487	VPP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000224)|Epithelial(86;0.000625)|all cancers(50;0.00775)	19	2611	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		788					A8K026|Q6NUM0	Missense_Mutation	SNP	ENST00000330342.3	37	c.2363T>G	CCDS9254.1	.	.	.	.	.	.	.	.	.	.	T	18.21	3.573230	0.65765	.	.	ENSG00000185344	ENST00000330342;ENST00000534943;ENST00000544833	D;D;D	0.87029	-2.2;-2.2;-2.2	5.71	5.71	0.89125	.	0.201337	0.44483	D	0.000441	D	0.91838	0.7417	M	0.64567	1.98	0.53005	D	0.999967	D	0.62365	0.991	D	0.64506	0.926	D	0.92392	0.5922	10	0.62326	D	0.03	-14.9934	15.9869	0.80160	0.0:0.0:0.0:1.0	.	788	Q9Y487	VPP2_HUMAN	W	788;68;70	ENSP00000332247:L788W;ENSP00000443726:L68W;ENSP00000441143:L70W	ENSP00000332247:L788W	L	+	2	0	ATP6V0A2	122807384	1.000000	0.71417	0.964000	0.40570	0.041000	0.13682	6.217000	0.72218	2.171000	0.68590	0.533000	0.62120	TTG		0.552	ATP6V0A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400765.2	NM_012463		9	127	0	0	0	1	0	9	127					G	124241431	T	G	124241431	3	3	261	1	0	0	0	0	1	0	0	0	1169	1821	63	5	2437	5	ATP6V0A2	12	124241431	Missense_Mutation	SNP	T	TCGA-HI-7171-01A-12D-2114-08	2807308	124241431	9610464	26	12275											
JPH4	84502	broad.mit.edu	37	chr14	24040359	24040359	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctccgaggagtggggaaccGtctctgggccctggcccttg	4	8	15	14	2	1	0	0	0	1	0	3	3	2	2	5	5	1	0	5	5	1	1			TCGA-HI-7171-01A-12D-2114-08	TCGA-HI-7171-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880022c4-45e7-4c49-92a2-231924b36310	d26a95e2-53bc-4bf8-8b58-3fe3899d106e	g.chr14:24040359G>A	ENST00000397118.3	-	6	2483	c.1581C>T	c.(1579-1581)gaC>gaT	p.D527D	JPH4_ENST00000356300.4_Silent_p.D527D|JPH4_ENST00000544177.1_Silent_p.D192D	NM_032452.2	NP_115828.2	Q96JJ6	JPH4_HUMAN	junctophilin 4	527					calcium ion transport into cytosol (GO:0060402)|learning (GO:0007612)|neuromuscular process controlling balance (GO:0050885)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of synaptic plasticity (GO:0048167)	dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|smooth endoplasmic reticulum (GO:0005790)				endometrium(1)|large_intestine(2)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22	all_cancers(95;0.000251)			GBM - Glioblastoma multiforme(265;0.00654)		GTGGGGAACCGTCTCTGGGCC	0.667																																						ENST00000397118.3																			0				endometrium(1)|large_intestine(2)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						c.(1579-1581)gaC>gaT		junctophilin 4							146	152	150					14																	24040359		2203	4299	6502	SO:0001819	synonymous_variant	84502				calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane		g.chr14:24040359G>A	AB058734	CCDS9603.1	14q11	2004-05-28	2004-05-28	2004-05-28	ENSG00000092051	ENSG00000092051			20156	protein-coding gene	gene with protein product			"junctophilin like 1"	JPHL1		11347906	Standard	NM_032452		Approved	KIAA1831	uc001wkr.2	Q96JJ6	OTTHUMG00000028769	ENST00000397118.3:c.1581C>T	14.37:g.24040359G>A						JPH4_ENST00000356300.4_Silent_p.D527D|JPH4_ENST00000544177.1_Silent_p.D192D	p.D527D	NM_032452.2	NP_115828.2	Q96JJ6	JPH4_HUMAN		GBM - Glioblastoma multiforme(265;0.00654)	6	2483	-	all_cancers(95;0.000251)		527					D3DS53|Q8ND44|Q96DQ0	Silent	SNP	ENST00000397118.3	37	c.1581C>T	CCDS9603.1																																																																																				0.667	JPH4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413853.1	NM_032452		72	173	0	0	0	1	0	72	173					A	24040359	G	A	24040359	2	1	261	1	0	0	0	0	0	0	0	1	7963	1136	40	1		1	JPH4	14	24040359	Silent	SNP	G	TCGA-HI-7171-01A-12D-2114-08		24040359	83309181	27	12276											
SAV1	60485	broad.mit.edu	37	chr14	51132328	51132328	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaccatgccggatgaatgaaGgcataagatctacaataaaa	18	7	9	7	1	1	3	0	2	1	1	1	5	1	4	2	2	2	1	2	2	7	3			TCGA-HI-7171-01A-12D-2114-08	TCGA-HI-7171-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880022c4-45e7-4c49-92a2-231924b36310	d26a95e2-53bc-4bf8-8b58-3fe3899d106e	g.chr14:51132328G>A	ENST00000324679.4	-	2	467	c.104C>T	c.(103-105)cCt>cTt	p.P35L	RP11-248J18.2_ENST00000602954.1_RNA	NM_021818.3	NP_068590.1	Q9H4B6	SAV1_HUMAN	salvador family WW domain containing protein 1	35					hair follicle development (GO:0001942)|hippo signaling (GO:0035329)|intestinal epithelial cell differentiation (GO:0060575)|keratinocyte differentiation (GO:0030216)|lung epithelial cell differentiation (GO:0060487)|negative regulation of cardiac muscle cell proliferation (GO:0060044)|negative regulation of epithelial cell proliferation (GO:0050680)|positive regulation of apoptotic process (GO:0043065)|regulation of stem cell maintenance (GO:2000036)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)				breast(1)|kidney(2)|lung(2)|prostate(1)	6	all_epithelial(31;0.000611)|Breast(41;0.0333)					GATGAATGAAGGCATAAGATC	0.358																																						ENST00000324679.4																			0				breast(1)|kidney(2)|lung(2)|prostate(1)	6						c.(103-105)cCt>cTt		salvador homolog 1 (Drosophila)							29	30	30					14																	51132328		2193	4285	6478	SO:0001583	missense	60485				hippo signaling cascade	cytoplasm|nucleus	identical protein binding	g.chr14:51132328G>A	AK023071	CCDS9701.1	14q13-q23	2014-04-14	2014-04-14		ENSG00000151748	ENSG00000151748			17795	protein-coding gene	gene with protein product	"WW domain-containing adaptor 45"	607203	"salvador homolog 1 (Drosophila)"			12202036, 11027580	Standard	NM_021818		Approved	WW45, WWP4, salvador	uc001wyh.2	Q9H4B6	OTTHUMG00000140293	ENST00000324679.4:c.104C>T	14.37:g.51132328G>A	ENSP00000324729:p.Pro35Leu						p.P35L	NM_021818.3	NP_068590.1	Q9H4B6	SAV1_HUMAN			2	467	-	all_epithelial(31;0.000611)|Breast(41;0.0333)		35					A8K4B8|D3DSB6|Q6IA58|Q9H949|Q9HAK9	Missense_Mutation	SNP	ENST00000324679.4	37	c.104C>T	CCDS9701.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	24.2|24.2	4.510210|4.510210	0.85282|0.85282	.|.	.|.	ENSG00000151748|ENSG00000151748	ENST00000556735|ENST00000324679;ENST00000535862	.|T	.|0.44482	.|0.92	5.18|5.18	5.18|5.18	0.71444|0.71444	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.37019|0.37019	0.0988|0.0988	L|L	0.34521|0.34521	1.04|1.04	0.80722|0.80722	D|D	1|1	.|P	.|0.47762	.|0.9	.|B	.|0.41135	.|0.348	T|T	0.36744|0.36744	-0.9735|-0.9735	5|10	.|0.72032	.|D	.|0.01	-12.3855|-12.3855	17.6718|17.6718	0.88220|0.88220	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|35	.|Q9H4B6	.|SAV1_HUMAN	F|L	75|35;2	.|ENSP00000324729:P35L	.|ENSP00000324729:P35L	L|P	-|-	1|2	0|0	SAV1|SAV1	50202078|50202078	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.961000|0.961000	0.63080|0.63080	9.364000|9.364000	0.97136|0.97136	2.422000|2.422000	0.82143|0.82143	0.563000|0.563000	0.77884|0.77884	CTT|CCT		0.358	SAV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276879.1			5	16	0	0	0	1	0	5	16					A	51132328	G	A	51132328	3	1	261	1	0	0	0	0	1	0	0	0	13856	1000	35	3	1063	3	SAV1	14	51132328	Missense_Mutation	SNP	G	TCGA-HI-7171-01A-12D-2114-08	27091969	51132328	56217212	28	12277											
KIAA1024	23251	broad.mit.edu	37	chr15	79748639	79748639	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gccaaactgagaagtgtgctCttctacacagcttgtctcga	10	11	9	11	1	3	1	0	1	3	1	4	3	3	1	1	0	4	2	1	0	3	3			TCGA-HI-7171-01A-12D-2114-08	TCGA-HI-7171-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880022c4-45e7-4c49-92a2-231924b36310	d26a95e2-53bc-4bf8-8b58-3fe3899d106e	g.chr15:79748639C>G	ENST00000305428.3	+	2	225	c.150C>G	c.(148-150)ctC>ctG	p.L50L		NM_015206.2	NP_056021.1	Q9UPX6	K1024_HUMAN	KIAA1024	50						integral component of membrane (GO:0016021)				central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(2)|pancreas(2)|prostate(1)	49						GAAGTGTGCTCTTCTACACAG	0.458																																						ENST00000305428.3																			0				central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(2)|pancreas(2)|prostate(1)	49						c.(148-150)ctC>ctG		KIAA1024							120	113	115					15																	79748639		2196	4293	6489	SO:0001819	synonymous_variant	23251					integral to membrane		g.chr15:79748639C>G	AB028947	CCDS32306.1	15q25.1	2007-12-12				ENSG00000169330			29172	protein-coding gene	gene with protein product						10470851	Standard	NM_015206		Approved		uc002bew.1	Q9UPX6		ENST00000305428.3:c.150C>G	15.37:g.79748639C>G							p.L50L	NM_015206.2	NP_056021.1	Q9UPX6	K1024_HUMAN			2	225	+			50					A7MD43	Silent	SNP	ENST00000305428.3	37	c.150C>G	CCDS32306.1																																																																																				0.458	KIAA1024-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416718.1	NM_015206		49	60	0	0	0	1	0	49	60					G	79748639	C	G	79748639	2	3	261	1	0	0	0	0	0	0	0	1	8205	900	32	5		5	KIAA1024	15	79748639	Silent	SNP	C	TCGA-HI-7171-01A-12D-2114-08		79748639	22782753	29	12278											
CHD2	1106	broad.mit.edu	37	chr15	93467763	93467763	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gccagcctctaagaaggaacGgatagctgatgtgaagaagg	14	6	14	7	1	1	4	0	2	1	2	1	6	1	6	2	3	3	1	2	3	6	2			TCGA-HI-7171-01A-12D-2114-08	TCGA-HI-7171-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880022c4-45e7-4c49-92a2-231924b36310	d26a95e2-53bc-4bf8-8b58-3fe3899d106e	g.chr15:93467763G>A	ENST00000394196.4	+	3	1343	c.275G>A	c.(274-276)cGg>cAg	p.R92Q	CHD2_ENST00000536619.1_Missense_Mutation_p.R105Q|CHD2_ENST00000420239.2_Missense_Mutation_p.R92Q|CHD2_ENST00000557381.1_Missense_Mutation_p.R92Q	NM_001271.3	NP_001262.3	O14647	CHD2_HUMAN	chromodomain helicase DNA binding protein 2	92					cellular response to DNA damage stimulus (GO:0006974)|chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|hematopoietic stem cell differentiation (GO:0060218)|muscle organ development (GO:0007517)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|histone binding (GO:0042393)|poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	47	Lung NSC(78;0.00976)|all_lung(78;0.016)		BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)			AAGAAGGAACGGATAGCTGAT	0.478																																						ENST00000394196.4																			0				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	47						c.(274-276)cGg>cAg		chromodomain helicase DNA binding protein 2							128	128	128					15																	93467763		2197	4298	6495	SO:0001583	missense	1106				regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding	g.chr15:93467763G>A	AF006514	CCDS10374.2, CCDS45356.1	15q26	2008-07-18			ENSG00000173575	ENSG00000173575			1917	protein-coding gene	gene with protein product		602119				9326634	Standard	NM_001042572		Approved	FLJ38614, DKFZp547I1315, DKFZp781D1727, DKFZp686E01200	uc002bsp.3	O14647	OTTHUMG00000149845	ENST00000394196.4:c.275G>A	15.37:g.93467763G>A	ENSP00000377747:p.Arg92Gln					CHD2_ENST00000536619.1_Missense_Mutation_p.R105Q|CHD2_ENST00000420239.2_Missense_Mutation_p.R92Q|CHD2_ENST00000557381.1_Missense_Mutation_p.R92Q	p.R92Q	NM_001271.3	NP_001262.3	O14647	CHD2_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)		3	1343	+	Lung NSC(78;0.00976)|all_lung(78;0.016)		92					C6G482|Q96IP5	Missense_Mutation	SNP	ENST00000394196.4	37	c.275G>A	CCDS10374.2	.	.	.	.	.	.	.	.	.	.	G	28.2	4.896703	0.91962	.	.	ENSG00000173575	ENST00000556722;ENST00000394196;ENST00000557381;ENST00000420239;ENST00000536619	D;D;T;T	0.89681	-2.55;-2.55;0.91;0.9	4.82	4.82	0.62117	.	0.000000	0.31041	U	0.008370	D	0.87305	0.6144	N	0.24115	0.695	0.46521	D	0.999087	D;P;D;D	0.69078	0.981;0.947;0.968;0.997	B;B;P;P	0.53954	0.377;0.273;0.462;0.738	D	0.85406	0.1134	10	0.23891	T	0.37	-23.1786	18.0769	0.89430	0.0:0.0:1.0:0.0	.	105;92;92;92	B7Z3I4;O14647;O14647-2;Q6AI05	.;CHD2_HUMAN;.;.	Q	92;92;92;92;105	ENSP00000377747:R92Q;ENSP00000451366:R92Q;ENSP00000406581:R92Q;ENSP00000443618:R105Q	ENSP00000377747:R92Q	R	+	2	0	CHD2	91268767	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.127000	0.77210	2.511000	0.84671	0.561000	0.74099	CGG		0.478	CHD2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000313528.3	NM_001271		3	74	0	0	0	1	0	3	74					A	93467763	G	A	93467763	3	1	261	1	0	0	0	0	1	0	0	0	3325	1116	39	2	281	2	CHD2	15	93467763	Missense_Mutation	SNP	G	TCGA-HI-7171-01A-12D-2114-08	13719124	93467763	9063629	30	12279											
DYNC1LI2	1783	broad.mit.edu	37	chr16	66770148	66770148	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtcttgaaaatctttcacaaCtgggggaaaaagaggaaaaa	18	8	10	5	0	3	2	1	1	2	1	3	4	3	4	0	3	1	0	0	3	7	2			TCGA-HI-7171-01A-12D-2114-08	TCGA-HI-7171-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880022c4-45e7-4c49-92a2-231924b36310	d26a95e2-53bc-4bf8-8b58-3fe3899d106e	g.chr16:66770148C>T	ENST00000258198.2	-	5	736		c.e5-1		DYNC1LI2_ENST00000379482.2_Splice_Site|RP11-63M22.1_ENST00000565082.1_lincRNA|DYNC1LI2_ENST00000443351.2_Splice_Site|DYNC1LI2_ENST00000440564.2_Splice_Site	NM_006141.2	NP_006132.1	O43237	DC1L2_HUMAN	dynein, cytoplasmic 1, light intermediate chain 2						antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|centrosome localization (GO:0051642)|microtubule cytoskeleton organization (GO:0000226)|microtubule-based movement (GO:0007018)|transport (GO:0006810)	centrosome (GO:0005813)|cytoplasmic dynein complex (GO:0005868)|cytosol (GO:0005829)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			central_nervous_system(3)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|skin(4)|stomach(1)	15		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0907)|Epithelial(162;0.212)		TCTTTCACAACTGGGGGAAAA	0.393																																						ENST00000258198.2																			0				central_nervous_system(3)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|skin(4)|stomach(1)	15						c.e5-1		dynein, cytoplasmic 1, light intermediate chain 2							58	57	58					16																	66770148		2200	4300	6500	SO:0001630	splice_region_variant	1783				transport	centrosome|cytoplasmic dynein complex|microtubule	ATP binding|motor activity	g.chr16:66770148C>T	AF035812	CCDS10818.1, CCDS67049.1	16q22.1	2008-02-05	2005-11-25	2005-11-25	ENSG00000135720	ENSG00000135720		"Cytoplasmic dyneins"	2966	protein-coding gene	gene with protein product		611406	"dynein, cytoplasmic, light intermediate polypeptide 2"	DNCLI2		16260502	Standard	NM_006141		Approved		uc002eqb.1	O43237	OTTHUMG00000137523	ENST00000258198.2:c.530-1G>A	16.37:g.66770148C>T						DYNC1LI2_ENST00000440564.2_Splice_Site|DYNC1LI2_ENST00000443351.2_Splice_Site|DYNC1LI2_ENST00000379482.2_Splice_Site		NM_006141.2	NP_006132.1	O43237	DC1L2_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0907)|Epithelial(162;0.212)	5	736	-		Ovarian(137;0.0563)						A8K6V1|B4DZP4|Q8TAT3	Splice_Site	SNP	ENST00000258198.2	37		CCDS10818.1	.	.	.	.	.	.	.	.	.	.	C	11.50	1.658249	0.29425	.	.	ENSG00000135720	ENST00000258198;ENST00000379482;ENST00000443351;ENST00000440564	.	.	.	5.23	5.23	0.72850	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.9925	0.92798	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	DYNC1LI2	65327649	1.000000	0.71417	0.998000	0.56505	0.138000	0.21146	7.320000	0.79064	2.714000	0.92807	0.563000	0.77884	.		0.393	DYNC1LI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268846.1	NM_006141	Intron	17	4	0	0	0	1	0	17	4					T	66770148	C	T	66770148	5	4	261	1	0	0	0	0	0	0	1	0	4845	579	20	3	985	3	DYNC1LI2	16	66770148	Splice_Site	SNP	C	TCGA-HI-7171-01A-12D-2114-08		66770148	23584605	31	12280											
OR3A2	4995	broad.mit.edu	37	chr17	3181633	3181633	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agctcattgagttgggtgctGgagcaggagagctggaagag	10	8	18	5	0	1	3	1	1	0	2	1	6	1	5	0	4	4	5	0	4	1	2	rs202057099		TCGA-HI-7171-01A-12D-2114-08	TCGA-HI-7171-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880022c4-45e7-4c49-92a2-231924b36310	d26a95e2-53bc-4bf8-8b58-3fe3899d106e	g.chr17:3181633G>A	ENST00000408891.2	-	1	635	c.597C>T	c.(595-597)tcC>tcT	p.S199S	RP11-64J4.2_ENST00000573491.1_RNA	NM_002551.3	NP_002542.3	P47893	OR3A2_HUMAN	olfactory receptor, family 3, subfamily A, member 2	199					sensory perception of chemical stimulus (GO:0007606)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)|receptor activity (GO:0004872)			ovary(1)	1						GTTGGGTGCTGGAGCAGGAGA	0.552													G|||	1	0.000199681	8e-04	0	5008	,	,		21981	0		0	False		,,,				2504	0				GBM(166;478 2018 3875 5042 31983)|Esophageal Squamous(77;407 1232 1405 14297 15272)	ENST00000408891.2																			0				ovary(1)	1						c.(595-597)tcC>tcT		olfactory receptor, family 3, subfamily A, member 2							77	70	73					17																	3181633		2203	4300	6503	SO:0001819	synonymous_variant	4995				sensory perception of smell	integral to plasma membrane	olfactory receptor activity	g.chr17:3181633G>A	U04713	CCDS42233.1	17p13.3	2012-08-09				ENSG00000221882		"GPCR / Class A : Olfactory receptors"	8283	protein-coding gene	gene with protein product						8921386, 10673334	Standard	NM_002551		Approved	OLFRA04, OR228, OR17-228	uc002fvg.3	P47893		ENST00000408891.2:c.597C>T	17.37:g.3181633G>A							p.S199S	NM_002551.3	NP_002542.3	P47893	OR3A2_HUMAN			1	635	-			199					Q6IFM3|Q9P1Q3	Silent	SNP	ENST00000408891.2	37	c.597C>T	CCDS42233.1																																																																																				0.552	OR3A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438370.1			21	68	0	0	0	1	0	21	68					A	3181633	G	A	3181633	2	1	261	1	0	0	0	0	0	0	0	1	11038	1335	47	3		3	OR3A2	17	3181633	Silent	SNP	G	TCGA-HI-7171-01A-12D-2114-08		3181633	78013577	32	12281											
TP53	7157	broad.mit.edu	37	chr17	7577566	7577566	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gccgcccatgcaggaactgtTacacatgtagttgtagtgga	10	10	12	9	1	0	0	0	0	0	0	0	2	0	2	2	2	3	5	2	2	4	4			TCGA-HI-7171-01A-12D-2114-08	TCGA-HI-7171-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880022c4-45e7-4c49-92a2-231924b36310	d26a95e2-53bc-4bf8-8b58-3fe3899d106e	g.chr17:7577566T>C	ENST00000269305.4	-	7	904	c.715A>G	c.(715-717)Aac>Gac	p.N239D	TP53_ENST00000420246.2_Missense_Mutation_p.N239D|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000359597.4_Missense_Mutation_p.N239D|TP53_ENST00000413465.2_Missense_Mutation_p.N239D|TP53_ENST00000445888.2_Missense_Mutation_p.N239D|TP53_ENST00000455263.2_Missense_Mutation_p.N239D	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	239	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		N -> D (in sporadic cancers; somatic mutation).|N -> H (in a sporadic cancer; somatic mutation).|N -> I (in a sporadic cancer; somatic mutation).|N -> K (in sporadic cancers; somatic mutation).|N -> S (in sporadic cancers; somatic mutation).|N -> T (in sporadic cancers; somatic mutation).|N -> Y (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.N239D(33)|p.N239fs*25(12)|p.0?(8)|p.N239Y(6)|p.N239fs*1(5)|p.?(5)|p.M237_N239delMCN(4)|p.N239_C242delNSSC(3)|p.N239fs*8(2)|p.N239_S240delNS(2)|p.N239fs*26(1)|p.N146D(1)|p.N146fs*1(1)|p.Y236_M243delYMCNSSCM(1)|p.V225fs*23(1)|p.N239fs*6(1)|p.N239fs*4(1)|p.C238_N239insX(1)|p.C238_M246delCNSSCMGGM(1)|p.M144_N146delMCN(1)|p.C238fs*21(1)|p.H233fs*6(1)|p.N239*(1)|p.H233_C242del10(1)|p.N239_C242del(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	CAGGAACTGTTACACATGTAG	0.572		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"Mis, N, F"	tumor protein p53			"L, E, M, O"		"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"	"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"		95	Substitution - Missense(40)|Insertion - Frameshift(18)|Deletion - In frame(14)|Whole gene deletion(8)|Deletion - Frameshift(7)|Unknown(5)|Substitution - Nonsense(1)|Complex - frameshift(1)|Insertion - In frame(1)	p.N239D(33)|p.N239fs*25(12)|p.0?(8)|p.N239Y(6)|p.N239fs*1(5)|p.?(5)|p.M237_N239delMCN(4)|p.N239_C242delNSSC(3)|p.N239fs*8(2)|p.N239_S240delNS(2)|p.N239fs*26(1)|p.N146D(1)|p.N146fs*1(1)|p.Y236_M243delYMCNSSCM(1)|p.V225fs*23(1)|p.N239fs*6(1)|p.N239fs*4(1)|p.C238_N239insX(1)|p.C238_M246delCNSSCMGGM(1)|p.M144_N146delMCN(1)|p.C238fs*21(1)|p.H233fs*6(1)|p.N239*(1)|p.H233_C242del10(1)|p.N239_C242del(1)	ovary(14)|oesophagus(11)|haematopoietic_and_lymphoid_tissue(10)|biliary_tract(7)|central_nervous_system(7)|large_intestine(7)|lung(7)|breast(6)|upper_aerodigestive_tract(5)|endometrium(5)|bone(5)|urinary_tract(4)|stomach(3)|prostate(2)|liver(1)|pancreas(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185						c.(715-717)Aac>Gac	Other conserved DNA damage response genes	tumor protein p53							133	104	114					17																	7577566		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577566T>C	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"Li-Fraumeni syndrome"	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.715A>G	17.37:g.7577566T>C	ENSP00000269305:p.Asn239Asp	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_ENST00000359597.4_Missense_Mutation_p.N239D|TP53_ENST00000413465.2_Missense_Mutation_p.N239D|TP53_ENST00000455263.2_Missense_Mutation_p.N239D|TP53_ENST00000445888.2_Missense_Mutation_p.N239D|TP53_ENST00000269305.4_Missense_Mutation_p.N239D	p.N239D	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	7	847	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	239		N -> D (in sporadic cancers; somatic mutation).|N -> H (in a sporadic cancer; somatic mutation).|N -> I (in a sporadic cancer; somatic mutation).|N -> K (in sporadic cancers; somatic mutation).|N -> S (in sporadic cancers; somatic mutation).|N -> T (in sporadic cancers; somatic mutation).|N -> Y (in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.715A>G	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	T	24.7	4.564934	0.86439	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99748	-6.62;-6.62;-6.62;-6.62;-6.62;-6.62;-6.62;-6.62	4.09	4.09	0.47781	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99648	0.9870	M	0.87381	2.88	0.58432	D	0.99999	D;D;D;D;D;D	0.89917	0.999;0.972;0.999;0.999;0.999;1.0	D;P;D;D;D;D	0.91635	0.993;0.803;0.998;0.993;0.996;0.999	D	0.97636	1.0145	10	0.87932	D	0	-35.9081	11.6823	0.51466	0.0:0.0:0.0:1.0	.	239;239;146;239;239;239	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	D	239;239;239;239;239;239;228;146;107;146	ENSP00000410739:N239D;ENSP00000352610:N239D;ENSP00000269305:N239D;ENSP00000398846:N239D;ENSP00000391127:N239D;ENSP00000391478:N239D;ENSP00000425104:N107D;ENSP00000423862:N146D	ENSP00000269305:N239D	N	-	1	0	TP53	7518291	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.770000	0.85390	2.074000	0.62210	0.379000	0.24179	AAC		0.572	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		37	43	0	0	0	1	0	37	43					C	7577566	T	C	7577566	3	2	261	1	0	0	0	0	1	0	0	0	16378	1754	61	4	575	4	TP53	17	7577566	Missense_Mutation	SNP	T	TCGA-HI-7171-01A-12D-2114-08	4395933	7577566	73617644	33	12282											
KCNJ12	3768	broad.mit.edu	37	chr17	21319343	21319343	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtggaggcccatgtgcgcgCgcagctcatcaagccgcggg	6	6	16	13	5	2	0	2	0	0	0	2	1	2	1	2	3	3	2	2	3	1	0	rs377513949		TCGA-HI-7171-01A-12D-2114-08	TCGA-HI-7171-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880022c4-45e7-4c49-92a2-231924b36310	d26a95e2-53bc-4bf8-8b58-3fe3899d106e	g.chr17:21319343C>T	ENST00000583088.1	+	3	1584	c.689C>T	c.(688-690)gCg>gTg	p.A230V	KCNJ12_ENST00000331718.5_Missense_Mutation_p.A230V	NM_021012.4	NP_066292.2	Q14500	KCJ12_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 12	230					muscle contraction (GO:0006936)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|protein homotetramerization (GO:0051289)|regulation of heart contraction (GO:0008016)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|intrinsic component of membrane (GO:0031224)|plasma membrane (GO:0005886)	inward rectifier potassium channel activity (GO:0005242)			NS(1)|breast(4)|endometrium(4)|kidney(1)|large_intestine(5)|lung(39)|ovary(5)|skin(8)|stomach(3)	70				Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732)	Dofetilide(DB00204)|Yohimbine(DB01392)	CATGTGCGCGCGCAGCTCATC	0.637										Prostate(3;0.18)																												ENST00000583088.1																			0				NS(1)|breast(4)|endometrium(4)|kidney(1)|large_intestine(5)|lung(39)|ovary(5)|skin(8)|stomach(3)	70						c.(688-690)gCg>gTg		potassium inwardly-rectifying channel, subfamily J, member 12		C	VAL/ALA	0,4406		0,0,2203	88	70	76		689	5.3	1	17		76	1,8599	1.2+/-3.3	0,1,4299	no	missense	KCNJ12	NM_021012.4	64	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	230/434	21319343	1,13005	2203	4300	6503	SO:0001583	missense	3768							g.chr17:21319343C>T	L36069	CCDS11219.1	17p11.1	2011-07-05	2004-01-13		ENSG00000184185	ENSG00000184185		"Potassium channels", "Voltage-gated ion channels / Potassium channels, Inwardly rectifying"	6258	protein-coding gene	gene with protein product		602323	"potassium inwardly-rectifying channel, subfamily J, inhibitor 1"	KCNJN1		7859381, 12417321, 16382105	Standard	NM_021012		Approved	Kir2.2, Kir2.2v, IRK2, hIRK1	uc021tss.1	Q14500	OTTHUMG00000132039	ENST00000583088.1:c.689C>T	17.37:g.21319343C>T	ENSP00000463778:p.Ala230Val	Prostate(3;0.18)				KCNJ12_ENST00000331718.5_Missense_Mutation_p.A230V	p.A230V	NM_021012.4	NP_066292.2				Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732)	3	1584	+								O43401|Q15756|Q8NG63	Missense_Mutation	SNP	ENST00000583088.1	37	c.689C>T	CCDS11219.1	.	.	.	.	.	.	.	.	.	.	C	33	5.222216	0.95139	0.0	1.16E-4	ENSG00000184185	ENST00000331718	D	0.91686	-2.89	5.32	5.32	0.75619	Immunoglobulin E-set (1);Potassium channel, inwardly rectifying, Kir, conserved region 2 (1);Potassium channel, inwardly rectifying, Kir, cytoplasmic (1);	0.000000	0.85682	D	0.000000	D	0.94069	0.8099	L	0.58925	1.835	0.80722	D	1	D	0.69078	0.997	P	0.55508	0.777	D	0.94602	0.7797	10	0.87932	D	0	.	18.9979	0.92821	0.0:1.0:0.0:0.0	.	230	Q14500	IRK12_HUMAN	V	230	ENSP00000328150:A230V	ENSP00000328150:A230V	A	+	2	0	KCNJ12	21259936	1.000000	0.71417	0.998000	0.56505	0.986000	0.74619	7.680000	0.84062	2.496000	0.84212	0.655000	0.94253	GCG		0.637	KCNJ12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255060.2	NM_021012		4	64	0	0	0	1	0	4	64					T	21319343	C	T	21319343	3	4	261	1	0	0	0	0	1	0	0	0	8046	768	27	1	691	1	KCNJ12	17	21319343	Missense_Mutation	SNP	C	TCGA-HI-7171-01A-12D-2114-08	13741777	21319343	59875867	34	12283											
C17orf78	284099	broad.mit.edu	37	chr17	35745662	35745662	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tattgtggtcaaaattctgaTtgctgtcaccctgttgctca	8	16	8	9	0	4	1	3	1	1	0	4	1	4	1	1	1	2	3	1	1	3	5			TCGA-HI-7171-01A-12D-2114-08	TCGA-HI-7171-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880022c4-45e7-4c49-92a2-231924b36310	d26a95e2-53bc-4bf8-8b58-3fe3899d106e	g.chr17:35745662T>A	ENST00000300618.4	+	5	616	c.566T>A	c.(565-567)aTt>aAt	p.I189N	ACACA_ENST00000416895.1_Intron|C17orf78_ENST00000586700.1_Intron|RP11-378E13.3_ENST00000592238.1_RNA|ACACA_ENST00000353139.5_Intron|ACACA_ENST00000589665.1_Intron	NM_173625.3	NP_775896.3	Q8N4C9	CQ078_HUMAN	chromosome 17 open reading frame 78	189						integral component of membrane (GO:0016021)				NS(1)|endometrium(1)|large_intestine(1)|lung(2)|stomach(1)	6		Breast(25;0.00295)|Ovarian(249;0.15)				AAAATTCTGATTGCTGTCACC	0.398																																						ENST00000300618.4																			0				NS(1)|endometrium(1)|large_intestine(1)|lung(2)|stomach(1)	6						c.(565-567)aTt>aAt		chromosome 17 open reading frame 78							167	155	159					17																	35745662		1880	4107	5987	SO:0001583	missense	284099					integral to membrane		g.chr17:35745662T>A	BC034672	CCDS45655.1	17q12	2014-05-06			ENSG00000167230	ENSG00000278505			26831	protein-coding gene	gene with protein product						14702039	Standard	NM_173625		Approved	FLJ39647	uc002hns.3	Q8N4C9	OTTHUMG00000188467	ENST00000300618.4:c.566T>A	17.37:g.35745662T>A	ENSP00000300618:p.Ile189Asn					ACACA_ENST00000589665.1_Intron|C17orf78_ENST00000586700.1_Intron|ACACA_ENST00000353139.5_Intron|ACACA_ENST00000416895.1_Intron	p.I189N	NM_173625.3	NP_775896.3	Q8N4C9	CQ078_HUMAN			5	616	+		Breast(25;0.00295)|Ovarian(249;0.15)	189					Q8N8D2	Missense_Mutation	SNP	ENST00000300618.4	37	c.566T>A	CCDS45655.1	.	.	.	.	.	.	.	.	.	.	T	14.77	2.633800	0.47049	.	.	ENSG00000167230	ENST00000300618	T	0.63417	-0.04	4.96	3.88	0.44766	.	0.000000	0.51477	D	0.000097	T	0.63486	0.2515	L	0.32530	0.975	0.32733	N	0.508797	D	0.63046	0.992	P	0.62184	0.899	T	0.70766	-0.4783	10	0.87932	D	0	-7.6154	7.2045	0.25899	0.0:0.0989:0.0:0.9011	.	189	Q8N4C9	CQ078_HUMAN	N	189	ENSP00000300618:I189N	ENSP00000300618:I189N	I	+	2	0	C17orf78	32819775	1.000000	0.71417	0.998000	0.56505	0.530000	0.34684	1.932000	0.40143	0.934000	0.37316	0.524000	0.50904	ATT		0.398	C17orf78-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451570.2	NM_173625		13	12	0	0	0	1	0	13	12					A	35745662	T	A	35745662	3	1	261	1	0	0	0	0	1	0	0	0	1883	1493	52	5	584	5	C17orf78	17	35745662	Missense_Mutation	SNP	T	TCGA-HI-7171-01A-12D-2114-08	14426319	35745662	45449548	35	12284											
CDH2	1000	broad.mit.edu	37	chr18	25572675	25572675	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcggtctggatggcgaaccGtccagtaggatctccgccac	7	8	13	13	4	2	0	0	0	2	0	5	3	3	2	4	4	1	1	4	4	2	1	rs199882009		TCGA-HI-7171-01A-12D-2114-08	TCGA-HI-7171-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880022c4-45e7-4c49-92a2-231924b36310	d26a95e2-53bc-4bf8-8b58-3fe3899d106e	g.chr18:25572675G>A	ENST00000269141.3	-	9	1711	c.1288C>T	c.(1288-1290)Cgg>Tgg	p.R430W	CDH2_ENST00000399380.3_Missense_Mutation_p.R399W	NM_001792.3	NP_001783.2	P19022	CADH2_HUMAN	cadherin 2, type 1, N-cadherin (neuronal)	430	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|blood vessel morphogenesis (GO:0048514)|calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell migration (GO:0016477)|cell-cell adhesion mediated by cadherin (GO:0044331)|cell-cell junction organization (GO:0045216)|glial cell differentiation (GO:0010001)|heterophilic cell-cell adhesion (GO:0007157)|homophilic cell adhesion (GO:0007156)|muscle cell differentiation (GO:0042692)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|neuronal stem cell maintenance (GO:0097150)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of muscle cell differentiation (GO:0051149)|striated muscle cell differentiation (GO:0051146)	apical plasma membrane (GO:0016324)|catenin complex (GO:0016342)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|synapse (GO:0045202)	alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)|gamma-catenin binding (GO:0045295)			NS(1)|breast(5)|cervix(2)|endometrium(7)|kidney(3)|large_intestine(22)|lung(32)|ovary(4)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						ATGGCGAACCGTCCAGTAGGA	0.527																																						ENST00000269141.3																			0				NS(1)|breast(5)|cervix(2)|endometrium(7)|kidney(3)|large_intestine(22)|lung(32)|ovary(4)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						c.(1288-1290)Cgg>Tgg		cadherin 2, type 1, N-cadherin (neuronal)							207	161	177					18																	25572675		2203	4300	6503	SO:0001583	missense	1000				adherens junction organization|cell junction assembly|positive regulation of muscle cell differentiation	catenin complex|integral to membrane	alpha-catenin binding|beta-catenin binding|calcium ion binding|gamma-catenin binding	g.chr18:25572675G>A	S42303	CCDS11891.1	18q12.1	2010-01-26			ENSG00000170558	ENSG00000170558		"CD molecules", "Cadherins / Major cadherins"	1759	protein-coding gene	gene with protein product	"N-cadherin"	114020		NCAD		2384753, 7731968, 2216790	Standard	NM_001792		Approved	CDHN, CD325	uc002kwg.2	P19022	OTTHUMG00000059940	ENST00000269141.3:c.1288C>T	18.37:g.25572675G>A	ENSP00000269141:p.Arg430Trp					CDH2_ENST00000399380.3_Missense_Mutation_p.R399W	p.R430W	NM_001792.3	NP_001783.2	P19022	CADH2_HUMAN			9	1711	-			430			Cadherin 3.		A8MWK3|B0YIY6|Q14923|Q8N173	Missense_Mutation	SNP	ENST00000269141.3	37	c.1288C>T	CCDS11891.1	.	.	.	.	.	.	.	.	.	.	G	14.81	2.646380	0.47258	.	.	ENSG00000170558	ENST00000269141;ENST00000399380	T;T	0.50813	0.73;0.73	5.39	4.5	0.54988	Cadherin (4);Cadherin-like (1);	0.162822	0.52532	D	0.000075	T	0.60702	0.2289	L	0.43598	1.365	0.40622	D	0.981774	D;D	0.89917	1.0;1.0	D;D	0.79108	0.984;0.992	T	0.62978	-0.6739	10	0.48119	T	0.1	.	15.3486	0.74363	0.0:0.0:0.8551:0.1449	.	399;430	A8MWK3;P19022	.;CADH2_HUMAN	W	430;399	ENSP00000269141:R430W;ENSP00000382312:R399W	ENSP00000269141:R430W	R	-	1	2	CDH2	23826673	0.880000	0.30214	0.071000	0.20095	0.146000	0.21551	3.612000	0.54142	1.334000	0.45468	0.655000	0.94253	CGG		0.527	CDH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133246.3	NM_001792		49	66	0	0	0	1	0	49	66					A	25572675	G	A	25572675	3	1	261	1	0	0	0	0	1	0	0	0	3105	1144	40	1	1464	1	CDH2	18	25572675	Missense_Mutation	SNP	G	TCGA-HI-7171-01A-12D-2114-08		25572675	52504573	36	12285											
CDH2	1000	broad.mit.edu	37	chr18	25583091	25583091	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	acatcccattgagggcattgGgatcgtcagcatcaattgct	10	11	10	10	1	2	1	2	1	0	0	4	2	3	2	1	2	2	3	1	2	1	3			TCGA-HI-7171-01A-12D-2114-08	TCGA-HI-7171-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880022c4-45e7-4c49-92a2-231924b36310	d26a95e2-53bc-4bf8-8b58-3fe3899d106e	g.chr18:25583091G>T	ENST00000269141.3	-	7	1313	c.890C>A	c.(889-891)cCc>cAc	p.P297H	CDH2_ENST00000399380.3_Missense_Mutation_p.P266H	NM_001792.3	NP_001783.2	P19022	CADH2_HUMAN	cadherin 2, type 1, N-cadherin (neuronal)	297	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|blood vessel morphogenesis (GO:0048514)|calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell migration (GO:0016477)|cell-cell adhesion mediated by cadherin (GO:0044331)|cell-cell junction organization (GO:0045216)|glial cell differentiation (GO:0010001)|heterophilic cell-cell adhesion (GO:0007157)|homophilic cell adhesion (GO:0007156)|muscle cell differentiation (GO:0042692)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|neuronal stem cell maintenance (GO:0097150)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of muscle cell differentiation (GO:0051149)|striated muscle cell differentiation (GO:0051146)	apical plasma membrane (GO:0016324)|catenin complex (GO:0016342)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|synapse (GO:0045202)	alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)|gamma-catenin binding (GO:0045295)			NS(1)|breast(5)|cervix(2)|endometrium(7)|kidney(3)|large_intestine(22)|lung(32)|ovary(4)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						GAGGGCATTGGGATCGTCAGC	0.458																																						ENST00000269141.3																			0				NS(1)|breast(5)|cervix(2)|endometrium(7)|kidney(3)|large_intestine(22)|lung(32)|ovary(4)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						c.(889-891)cCc>cAc		cadherin 2, type 1, N-cadherin (neuronal)							208	149	169					18																	25583091		2203	4300	6503	SO:0001583	missense	1000				adherens junction organization|cell junction assembly|positive regulation of muscle cell differentiation	catenin complex|integral to membrane	alpha-catenin binding|beta-catenin binding|calcium ion binding|gamma-catenin binding	g.chr18:25583091G>T	S42303	CCDS11891.1	18q12.1	2010-01-26			ENSG00000170558	ENSG00000170558		"CD molecules", "Cadherins / Major cadherins"	1759	protein-coding gene	gene with protein product	"N-cadherin"	114020		NCAD		2384753, 7731968, 2216790	Standard	NM_001792		Approved	CDHN, CD325	uc002kwg.2	P19022	OTTHUMG00000059940	ENST00000269141.3:c.890C>A	18.37:g.25583091G>T	ENSP00000269141:p.Pro297His					CDH2_ENST00000399380.3_Missense_Mutation_p.P266H	p.P297H	NM_001792.3	NP_001783.2	P19022	CADH2_HUMAN			7	1313	-			297			Cadherin 2.		A8MWK3|B0YIY6|Q14923|Q8N173	Missense_Mutation	SNP	ENST00000269141.3	37	c.890C>A	CCDS11891.1	.	.	.	.	.	.	.	.	.	.	G	19.96	3.923117	0.73213	.	.	ENSG00000170558	ENST00000269141;ENST00000399380	T;T	0.61274	0.12;0.12	5.48	4.59	0.56863	Cadherin (4);Cadherin-like (1);	0.105067	0.64402	D	0.000003	T	0.73984	0.3657	M	0.79805	2.47	0.48975	D	0.999731	D;D	0.89917	0.966;1.0	D;D	0.77557	0.912;0.99	T	0.76476	-0.2945	10	0.72032	D	0.01	.	9.2962	0.37817	0.0726:0.0:0.7817:0.1457	.	266;297	A8MWK3;P19022	.;CADH2_HUMAN	H	297;266	ENSP00000269141:P297H;ENSP00000382312:P266H	ENSP00000269141:P297H	P	-	2	0	CDH2	23837089	1.000000	0.71417	0.461000	0.27105	0.907000	0.53573	5.601000	0.67606	1.396000	0.46663	0.563000	0.77884	CCC		0.458	CDH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133246.3	NM_001792		4	84	1	0	1	1	1	4	84					T	25583091	G	T	25583091	3	4	261	1	0	0	0	0	1	0	0	0	3105	1232	43	5	1870	5	CDH2	18	25583091	Missense_Mutation	SNP	G	TCGA-HI-7171-01A-12D-2114-08	10416	25583091	52494157	37	12286											
SHC2	25759	broad.mit.edu	37	chr19	438989	438989	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctttttcttccaggatcccCggacgccaggcacggcctca	6	9	9	17	3	2	0	1	0	1	0	4	2	4	2	6	4	0	1	6	4	0	3			TCGA-HI-7171-01A-12D-2114-08	TCGA-HI-7171-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880022c4-45e7-4c49-92a2-231924b36310	d26a95e2-53bc-4bf8-8b58-3fe3899d106e	g.chr19:438989C>T	ENST00000264554.6	-	3	580	c.581G>A	c.(580-582)cGg>cAg	p.R194Q		NM_012435.2	NP_036567.2	P98077	SHC2_HUMAN	SHC (Src homology 2 domain containing) transforming protein 2	194	PID. {ECO:0000255|PROSITE- ProRule:PRU00148}.				activation of MAPK activity (GO:0000187)|insulin receptor signaling pathway (GO:0008286)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Ras protein signal transduction (GO:0007265)	cytosol (GO:0005829)				endometrium(2)|kidney(1)|large_intestine(2)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	21		all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCAGGATCCCCGGACGCCAGG	0.677																																						ENST00000264554.6																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	21						c.(580-582)cGg>cAg		SHC (Src homology 2 domain containing) transforming protein 2							23	24	24					19																	438989		1857	4078	5935	SO:0001583	missense	25759				insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|Ras protein signal transduction	cytosol		g.chr19:438989C>T	AB001451	CCDS45891.1	19p13.3	2013-02-14				ENSG00000129946		"SH2 domain containing"	29869	protein-coding gene	gene with protein product	"neuronal Shc adaptor homolog"	605217				7527937, 9507002	Standard	NM_012435		Approved	SLI, SCK, SHCB	uc002loq.4	P98077		ENST00000264554.6:c.581G>A	19.37:g.438989C>T	ENSP00000264554:p.Arg194Gln						p.R194Q	NM_012435.2	NP_036567.2	P98077	SHC2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	3	580	-		all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)	194			PID.		O60230|Q9NPL5|Q9UCX4	Missense_Mutation	SNP	ENST00000264554.6	37	c.581G>A	CCDS45891.1	.	.	.	.	.	.	.	.	.	.	C	17.94	3.511600	0.64522	.	.	ENSG00000129946	ENST00000264554	T	0.13901	2.55	3.35	1.2	0.21068	Phosphotyrosine interaction (PID/PI) (1);Phosphotyrosine interaction domain (3);Pleckstrin homology-type (1);	0.195252	0.39475	N	0.001348	T	0.14830	0.0358	L	0.43152	1.355	0.28349	N	0.920994	D	0.52996	0.957	P	0.50537	0.643	T	0.04522	-1.0945	10	0.54805	T	0.06	-17.0303	6.1684	0.20404	0.0:0.6571:0.0:0.3429	.	194	P98077	SHC2_HUMAN	Q	194	ENSP00000264554:R194Q	ENSP00000264554:R194Q	R	-	2	0	SHC2	389989	0.978000	0.34361	0.962000	0.40283	0.902000	0.53008	2.254000	0.43214	0.713000	0.32060	0.313000	0.20887	CGG		0.677	SHC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451840.3			9	12	0	0	0	1	0	9	12					T	438989	C	T	438989	3	4	261	1	0	0	0	0	1	0	0	0	14271	652	23	2	1207	2	SHC2	19	438989	Missense_Mutation	SNP	C	TCGA-HI-7171-01A-12D-2114-08		438989	58689994	38	12287											
RAB3D	9545	broad.mit.edu	37	chr19	11447929	11447929	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cccacagtactgacgaaggcGggagtgaaggagtcgtccgc	10	5	15	11	4	0	2	0	2	0	0	2	5	1	4	2	3	1	1	2	3	3	1	rs151261006		TCGA-HI-7171-01A-12D-2114-08	TCGA-HI-7171-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880022c4-45e7-4c49-92a2-231924b36310	d26a95e2-53bc-4bf8-8b58-3fe3899d106e	g.chr19:11447929G>A	ENST00000222120.3	-	2	407	c.147C>T	c.(145-147)ccC>ccT	p.P49P	RAB3D_ENST00000589655.1_Silent_p.P49P	NM_004283.3	NP_004274.1	O95716	RAB3D_HUMAN	RAB3D, member RAS oncogene family	49					exocytosis (GO:0006887)|GTP catabolic process (GO:0006184)|peptidyl-cysteine methylation (GO:0018125)|protein transport (GO:0015031)|regulation of exocytosis (GO:0017157)|small GTPase mediated signal transduction (GO:0007264)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|transport vesicle (GO:0030133)|zymogen granule (GO:0042588)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|myosin V binding (GO:0031489)			cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(3)|ovary(2)	14						TGACGAAGGCGGGAGTGAAGG	0.527																																						ENST00000222120.3																			0				cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(3)|ovary(2)	14						c.(145-147)ccC>ccT		RAB3D, member RAS oncogene family		G		2,4404	4.2+/-10.8	0,2,2201	317	266	283		147	-5	1	19	dbSNP_134	283	0,8600		0,0,4300	no	coding-synonymous	RAB3D	NM_004283.3		0,2,6501	AA,AG,GG		0.0,0.0454,0.0154		49/220	11447929	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	9545				exocytosis|protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding|GTPase activity	g.chr19:11447929G>A	AF081353	CCDS12257.1	19p13.2	2012-10-02			ENSG00000105514	ENSG00000105514		"RAB, member RAS oncogene"	9779	protein-coding gene	gene with protein product	"Rab3D upregulated with myeloid differentiation", "glioblastoma overexpressed"	604350		GOV		10023084, 10072586	Standard	NM_004283		Approved	RAB16, D2-2, RAD3D	uc002mqx.3	O95716	OTTHUMG00000180835	ENST00000222120.3:c.147C>T	19.37:g.11447929G>A						RAB3D_ENST00000589655.1_Silent_p.P49P	p.P49P	NM_004283.3	NP_004274.1	O95716	RAB3D_HUMAN			2	407	-			49						Silent	SNP	ENST00000222120.3	37	c.147C>T	CCDS12257.1																																																																																				0.527	RAB3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453211.1	NM_004283		22	294	0	0	0	1	0	22	294					A	11447929	G	A	11447929	2	1	261	1	0	0	0	0	0	0	0	1	12934	1103	39	2		2	RAB3D	19	11447929	Silent	SNP	G	TCGA-HI-7171-01A-12D-2114-08	11008940	11447929	47681054	39	12288											
PRKACA	5566	broad.mit.edu	37	chr19	14204548	14204548	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cgcttggtgagatctacctgCaggaggttccgcagcaggtc	7	9	14	11	2	1	1	0	1	1	1	3	3	2	2	2	4	3	5	2	4	1	3			TCGA-HI-7171-01A-12D-2114-08	TCGA-HI-7171-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880022c4-45e7-4c49-92a2-231924b36310	d26a95e2-53bc-4bf8-8b58-3fe3899d106e	g.chr19:14204548C>A	ENST00000308677.4	-	9	1018	c.822G>T	c.(820-822)ctG>ctT	p.L274L	PRKACA_ENST00000589994.1_Silent_p.L266L|PRKACA_ENST00000350356.3_5'UTR|SAMD1_ENST00000541938.1_5'Flank|PRKACA_ENST00000590853.1_Intron	NM_002730.3	NP_002721.1	P17612	KAPCA_HUMAN	protein kinase, cAMP-dependent, catalytic, alpha	274	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|blood coagulation (GO:0007596)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|carbohydrate metabolic process (GO:0005975)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular response to epinephrine stimulus (GO:0071872)|cellular response to glucagon stimulus (GO:0071377)|cellular response to glucose stimulus (GO:0071333)|cellular response to parathyroid hormone stimulus (GO:0071374)|cytosolic calcium ion homeostasis (GO:0051480)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G2/M transition of mitotic cell cycle (GO:0000086)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|mesoderm formation (GO:0001707)|mitotic cell cycle (GO:0000278)|negative regulation of smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:1901621)|neural tube closure (GO:0001843)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of protein export from nucleus (GO:0046827)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of insulin secretion (GO:0050796)|regulation of osteoblast differentiation (GO:0045667)|regulation of proteasomal protein catabolic process (GO:0061136)|regulation of protein binding (GO:0043393)|regulation of protein processing (GO:0070613)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of synaptic transmission (GO:0050804)|regulation of tight junction assembly (GO:2000810)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|sperm capacitation (GO:0048240)|transmembrane transport (GO:0055085)|triglyceride catabolic process (GO:0019433)|water transport (GO:0006833)	AMP-activated protein kinase complex (GO:0031588)|calcium channel complex (GO:0034704)|cAMP-dependent protein kinase complex (GO:0005952)|centrosome (GO:0005813)|ciliary base (GO:0097546)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|motile cilium (GO:0031514)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sperm midpiece (GO:0097225)	ATP binding (GO:0005524)|cAMP-dependent protein kinase activity (GO:0004691)|protein kinase A regulatory subunit binding (GO:0034237)|protein kinase binding (GO:0019901)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)	16						GATCTACCTGCAGGAGGTTCC	0.542																																						ENST00000308677.4																			0				central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)	16						c.(820-822)ctG>ctT		protein kinase, cAMP-dependent, catalytic, alpha							109	99	102					19																	14204548		2203	4300	6503	SO:0001819	synonymous_variant	5566				activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|G2/M transition of mitotic cell cycle|gluconeogenesis|intracellular protein kinase cascade|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|regulation of insulin secretion|transmembrane transport|triglyceride catabolic process|water transport	cAMP-dependent protein kinase complex|centrosome|cytosol|nucleoplasm|plasma membrane	ATP binding|cAMP-dependent protein kinase activity|cAMP-dependent protein kinase inhibitor activity|protein kinase binding	g.chr19:14204548C>A		CCDS12304.1, CCDS12305.1	19p13.1	2012-10-02				ENSG00000072062	2.7.11.1		9380	protein-coding gene	gene with protein product		601639				8884279	Standard	NM_002730		Approved	PKACa	uc002myc.3	P17612		ENST00000308677.4:c.822G>T	19.37:g.14204548C>A						PRKACA_ENST00000350356.3_5'UTR|PRKACA_ENST00000589994.1_Silent_p.L266L|PRKACA_ENST00000590853.1_Intron	p.L274L	NM_002730.3	NP_002721.1	P17612	KAPCA_HUMAN			9	1018	-			274			Protein kinase.		Q32P54|Q9H2Y0|Q9NRB4|Q9NRH9	Silent	SNP	ENST00000308677.4	37	c.822G>T	CCDS12304.1																																																																																				0.542	PRKACA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459004.1	NM_002730		3	66	1	0	0.115264	1	0.119308	3	66					A	14204548	C	A	14204548	2	1	261	1	0	0	0	0	0	0	0	1	12497	697	25	5		5	PRKACA	19	14204548	Silent	SNP	C	TCGA-HI-7171-01A-12D-2114-08	2756619	14204548	44924435	40	12289											
IRF3	3661	broad.mit.edu	37	chr19	50162974	50162974	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aggtaggccttgtactggtcGgaggtgagggagagtgggtg	7	9	21	4	1	0	2	0	1	0	1	1	4	0	3	1	7	1	2	1	7	2	3	rs149842990	byFrequency	TCGA-HI-7171-01A-12D-2114-08	TCGA-HI-7171-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880022c4-45e7-4c49-92a2-231924b36310	d26a95e2-53bc-4bf8-8b58-3fe3899d106e	g.chr19:50162974G>A	ENST00000597198.1	-	8	1596	c.1215C>T	c.(1213-1215)tcC>tcT	p.S405S	IRF3_ENST00000601291.1_Nonsense_Mutation_p.R411*|IRF3_ENST00000599680.1_5'UTR|IRF3_ENST00000598808.1_Silent_p.S259S|IRF3_ENST00000309877.7_Silent_p.S405S|IRF3_ENST00000593922.1_Silent_p.S259S|IRF3_ENST00000599223.1_Silent_p.S278S|IRF3_ENST00000377135.4_Silent_p.S278S|IRF3_ENST00000599144.1_Silent_p.S259S|IRF3_ENST00000596822.1_Nonsense_Mutation_p.R94*|IRF3_ENST00000596765.1_Silent_p.S132S|IRF3_ENST00000600911.1_Nonsense_Mutation_p.R367*|IRF3_ENST00000377139.3_Silent_p.S405S|IRF3_ENST00000600022.1_Silent_p.S132S			Q14653	IRF3_HUMAN	interferon regulatory factor 3	405					apoptotic process (GO:0006915)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to dsRNA (GO:0071359)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|interferon-gamma-mediated signaling pathway (GO:0060333)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|macrophage apoptotic process (GO:0071888)|MDA-5 signaling pathway (GO:0039530)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of defense response to virus by host (GO:0050689)|negative regulation of interferon-beta biosynthetic process (GO:0045358)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of type I interferon production (GO:0032480)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of type I interferon production (GO:0032481)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340)|programmed necrotic cell death (GO:0097300)|response to exogenous dsRNA (GO:0043330)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|transcription from RNA polymerase II promoter (GO:0006366)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|type I interferon biosynthetic process (GO:0045351)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription cofactor activity (GO:0003712)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|large_intestine(2)|lung(4)|ovary(2)|stomach(1)	10		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.02)		TGTACTGGTCGGAGGTGAGGG	0.617													G|||	2	0.000399361	0.0015	0	5008	,	,		18041	0		0	False		,,,				2504	0					ENST00000600911.1																			0				breast(1)|large_intestine(2)|lung(4)|ovary(2)|stomach(1)	10						c.(1099-1101)Cga>Tga		interferon regulatory factor 3		G	stop/ARG,,,,,,,	15,4391	22.3+/-47.3	0,15,2188	144	126	132		1231,1110,834,777,777,396,396,1215	-8.9	0	19	dbSNP_134	132	1,8599	1.2+/-3.3	0,1,4299	yes	stop-gained,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	IRF3	NM_001197122.1,NM_001197123.1,NM_001197124.1,NM_001197125.1,NM_001197126.1,NM_001197127.1,NM_001197128.1,NM_001571.5	,,,,,,,	0,16,6487	AA,AG,GG		0.0116,0.3404,0.123	,,,,,,,	411/453,370/393,278/301,259/282,259/282,132/155,132/155,405/428	50162974	16,12990	2203	4300	6503	SO:0001819	synonymous_variant	3661				interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|MyD88-independent toll-like receptor signaling pathway|negative regulation of type I interferon production|response to virus|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	cytosol|endosome membrane|nucleoplasm|plasma membrane	DNA binding|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription cofactor activity	g.chr19:50162974G>A		CCDS12775.1, CCDS56099.1, CCDS59407.1, CCDS59408.1, CCDS59409.1	19q13.3-q13.4	2008-07-16				ENSG00000126456			6118	protein-coding gene	gene with protein product		603734				8524823	Standard	NM_001571		Approved		uc002pow.3	Q14653		ENST00000597198.1:c.1215C>T	19.37:g.50162974G>A						IRF3_ENST00000377135.4_Silent_p.S278S|IRF3_ENST00000377139.3_Silent_p.S405S|IRF3_ENST00000597198.1_Silent_p.S405S|IRF3_ENST00000600022.1_Silent_p.S132S|IRF3_ENST00000599680.1_5'UTR|IRF3_ENST00000596822.1_Nonsense_Mutation_p.R94*|IRF3_ENST00000599144.1_Silent_p.S259S|IRF3_ENST00000598808.1_Silent_p.S259S|IRF3_ENST00000596765.1_Silent_p.S132S|IRF3_ENST00000309877.7_Silent_p.S405S|IRF3_ENST00000601291.1_Nonsense_Mutation_p.R411*|IRF3_ENST00000593922.1_Silent_p.S259S|IRF3_ENST00000599223.1_Silent_p.S278S	p.R367*			Q14653	IRF3_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.02)	6	1491	-		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)	0					A8K7L2|B2RAZ3|Q5FBY1|Q5FBY2|Q5FBY4|Q7Z5G6	Nonsense_Mutation	SNP	ENST00000597198.1	37	c.1099C>T	CCDS12775.1																																																																																				0.617	IRF3-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465962.1	NM_001571		34	50	0	0	0	1	0	34	50					A	50162974	G	A	50162974	2	1	261	1	0	0	0	0	0	0	0	1	7831	1103	39	2		2	IRF3	19	50162974	Silent	SNP	G	TCGA-HI-7171-01A-12D-2114-08	35958426	50162974	8966009	41	12290											
DLGAP4	22839	broad.mit.edu	37	chr20	35064517	35064519	+	In_Frame_Del	DEL	CGG	CGG	-																															gtgccccatccccaggtgccCggcggcggcggcgagtggag																										TCGA-HI-7171-01A-12D-2114-08	TCGA-HI-7171-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880022c4-45e7-4c49-92a2-231924b36310	d26a95e2-53bc-4bf8-8b58-3fe3899d106e	g.chr20:35064517_35064519delCGG	ENST00000373907.2	+	3	1204_1206	c.1005_1007delCGG	c.(1003-1008)cccggc>ccc	p.G339del	DLGAP4_ENST00000373913.3_In_Frame_Del_p.G339del|DLGAP4_ENST00000401952.2_In_Frame_Del_p.G339del|DLGAP4_ENST00000339266.5_In_Frame_Del_p.G339del			Q9Y2H0	DLGP4_HUMAN	discs, large (Drosophila) homolog-associated protein 4	339					cell-cell signaling (GO:0007267)	membrane (GO:0016020)|synapse (GO:0045202)				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(20)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	37	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)				CCCAGGTGCCCGGCGGCGGCGGC	0.704																																						ENST00000373913.3																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(20)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	37						c.(1003-1008)ccc>cc		discs, large (Drosophila) homolog-associated protein 4				18,3386		0,18,1684						4.2	1			7	40,6678		2,36,3321	no	coding	DLGAP4	NM_014902.4		2,54,5005	A1A1,A1R,RR		0.5954,0.5288,0.573				58,10064				SO:0001651	inframe_deletion	22839				cell-cell signaling	membrane	protein binding	g.chr20:35064517_35064519delCGG	AF088030	CCDS13274.1, CCDS13275.1	20q11.23	2010-02-05			ENSG00000080845	ENSG00000080845			24476	protein-coding gene	gene with protein product						9115257	Standard	XM_005260329		Approved	DAP4, KIAA0964, SAPAP4	uc010zvp.2	Q9Y2H0	OTTHUMG00000032390	ENST00000373907.2:c.1005_1007delCGG	20.37:g.35064526_35064528delCGG	ENSP00000363014:p.Gly339del					DLGAP4_ENST00000339266.5_In_Frame_Del_p.PG335del|DLGAP4_ENST00000373907.2_In_Frame_Del_p.PG335del|DLGAP4_ENST00000401952.2_In_Frame_Del_p.PG335del	p.PG335del			Q9Y2H0	DLGP4_HUMAN			4	1485_1487	+	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)	335					E1P5T5|Q5QPG4|Q5T2Y4|Q5T2Y5|Q9H137|Q9H138|Q9H1L7	In_Frame_Del	DEL	ENST00000373907.2	37	c.1005_1007delCGG																																																																																					0.704	DLGAP4-007	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000079025.2	NM_014902		3	6						3	6	---	---	---	---	-	35064519	CGG	-	35064517	7	5	261	1	0	1	0	1	0	0	0	0	4562	639	23	0	1011	0	DLGAP4	20	35064517	In_Frame_Del	DEL	CGG	TCGA-HI-7171-01A-12D-2114-08		35064517	27961003	42	12291											
NCOA3	8202	broad.mit.edu	37	chr20	46279833	46279833	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atgcagcagcagcagcagcaGcaacagcagcagcagcagca	15	1	12	13	0	0	0	0	0	0	0	0	0	0	0	0	0	13	12	0	0	1	0			TCGA-HI-7171-01A-12D-2114-08	TCGA-HI-7171-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880022c4-45e7-4c49-92a2-231924b36310	d26a95e2-53bc-4bf8-8b58-3fe3899d106e	g.chr20:46279833G>A	ENST00000371998.3	+	20	3950	c.3759G>A	c.(3757-3759)caG>caA	p.Q1253Q	NCOA3_ENST00000341724.6_Silent_p.Q1179Q|NCOA3_ENST00000372004.3_Silent_p.Q1249Q|NCOA3_ENST00000371997.3_Silent_p.Q1244Q			Q9Y6Q9	NCOA3_HUMAN	nuclear receptor coactivator 3	1253	Acetyltransferase.|Poly-Gln.				androgen receptor signaling pathway (GO:0030521)|developmental growth (GO:0048589)|histone acetylation (GO:0016573)|labyrinthine layer morphogenesis (GO:0060713)|mammary gland branching involved in thelarche (GO:0060744)|multicellular organism growth (GO:0035264)|positive regulation of gene expression (GO:0010628)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|receptor transactivation (GO:0035624)|regulation of RNA biosynthetic process (GO:2001141)|transcription, DNA-templated (GO:0006351)|vagina development (GO:0060068)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|histone acetyltransferase activity (GO:0004402)|ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nuclear hormone receptor binding (GO:0035257)|protein N-terminus binding (GO:0047485)|signal transducer activity (GO:0004871)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)			breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						agcagcagcagcaacagcagc	0.547																																						ENST00000372004.3																			0				breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						c.(3745-3747)caG>caA		nuclear receptor coactivator 3							46	53	50					20																	46279833		2202	4300	6502	SO:0001819	synonymous_variant	8202				androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleoplasm	androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding	g.chr20:46279833G>A	AF012108	CCDS13406.1, CCDS13407.1, CCDS54472.1	20q12	2011-07-01			ENSG00000124151	ENSG00000124151		"Chromatin-modifying enzymes / K-acetyltransferases", "Basic helix-loop-helix proteins"	7670	protein-coding gene	gene with protein product	"receptor-associated coactivator 3", "thyroid hormone receptor activator molecule 1"	601937				9252329, 9346901	Standard	NM_181659		Approved	RAC3, AIB1, ACTR, p/CIP, TRAM-1, CAGH16, TNRC16, KAT13B, bHLHe42, SRC-3, SRC3	uc002xtk.3	Q9Y6Q9	OTTHUMG00000033061	ENST00000371998.3:c.3759G>A	20.37:g.46279833G>A						NCOA3_ENST00000341724.6_Silent_p.Q1179Q|NCOA3_ENST00000371998.3_Silent_p.Q1253Q|NCOA3_ENST00000371997.3_Silent_p.Q1244Q	p.Q1249Q	NM_001174087.1|NM_001174088.1|NM_006534.3|NM_181659.2	NP_001167558.1|NP_001167559.1|NP_006525.2|NP_858045.1	Q9Y6Q9	NCOA3_HUMAN			20	3963	+			1253		Missing.	Acetyltransferase.|Poly-Gln.		A4LAZ5|Q0VF45|Q5JYD9|Q5JYE0|Q9BR49|Q9UPC9|Q9UPG4|Q9UPG7	Silent	SNP	ENST00000371998.3	37	c.3747G>A	CCDS13407.1																																																																																				0.547	NCOA3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080405.1	NM_006534		3	42	0	0	0	1	0	3	42					A	46279833	G	A	46279833	2	1	261	1	0	0	0	0	0	0	0	1	10230	962	34	3		3	NCOA3	20	46279833	Silent	SNP	G	TCGA-HI-7171-01A-12D-2114-08	11215316	46279833	16745687	43	12292											
RAC2	5880	broad.mit.edu	37	chr22	37622732	37622732	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctagaggaggctgcaggcgCgcttctgctgccgcgtgggc	4	7	17	13	4	1	1	0	0	1	1	1	2	1	2	2	4	3	4	2	4	1	2			TCGA-HI-7171-01A-12D-2114-08	TCGA-HI-7171-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880022c4-45e7-4c49-92a2-231924b36310	d26a95e2-53bc-4bf8-8b58-3fe3899d106e	g.chr22:37622732C>T	ENST00000249071.6	-	6	681	c.560G>A	c.(559-561)cGc>cAc	p.R187H	RAC2_ENST00000405484.1_Missense_Mutation_p.R180H|RAC2_ENST00000406508.1_Missense_Mutation_p.R143H	NM_002872.3	NP_002863.1	P15153	RAC2_HUMAN	ras-related C3 botulinum toxin substrate 2 (rho family, small GTP binding protein Rac2)	187					actin filament organization (GO:0007015)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|bone resorption (GO:0045453)|cell projection assembly (GO:0030031)|G-protein coupled receptor signaling pathway (GO:0007186)|lymphocyte aggregation (GO:0071593)|platelet activation (GO:0030168)|positive regulation of cell proliferation (GO:0008284)|positive regulation of lamellipodium assembly (GO:0010592)|positive regulation of neutrophil chemotaxis (GO:0090023)|regulation of cell-substrate adhesion (GO:0010810)|regulation of hydrogen peroxide metabolic process (GO:0010310)|regulation of neutrophil migration (GO:1902622)|regulation of respiratory burst (GO:0060263)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(2)|upper_aerodigestive_tract(1)	12					Dextromethorphan(DB00514)	GCTGCAGGCGCGCTTCTGCTG	0.632																																						ENST00000249071.6																			0				breast(3)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(2)|upper_aerodigestive_tract(1)	12						c.(559-561)cGc>cAc		ras-related C3 botulinum toxin substrate 2 (rho family, small GTP binding protein Rac2)							48	50	49					22																	37622732		2203	4298	6501	SO:0001583	missense	5880				axon guidance|platelet activation|regulation of hydrogen peroxide metabolic process|regulation of respiratory burst|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding|GTPase activity|protein binding	g.chr22:37622732C>T	M64595	CCDS13945.1	22q13.1	2014-09-17			ENSG00000128340	ENSG00000128340		"Endogenous ligands"	9802	protein-coding gene	gene with protein product		602049				2674130	Standard	NM_002872		Approved	EN-7	uc003arc.3	P15153	OTTHUMG00000150540	ENST00000249071.6:c.560G>A	22.37:g.37622732C>T	ENSP00000249071:p.Arg187His					RAC2_ENST00000405484.1_Missense_Mutation_p.R180H|RAC2_ENST00000406508.1_Missense_Mutation_p.R143H	p.R187H	NM_002872.3	NP_002863.1	P15153	RAC2_HUMAN			6	681	-			187					Q9UDJ4	Missense_Mutation	SNP	ENST00000249071.6	37	c.560G>A	CCDS13945.1	.	.	.	.	.	.	.	.	.	.	C	14.89	2.670719	0.47781	.	.	ENSG00000128340	ENST00000249071;ENST00000406508;ENST00000405484	T;T;T	0.67171	-0.25;0.24;-0.12	4.89	4.89	0.63831	.	0.253357	0.32769	N	0.005677	T	0.64940	0.2644	L	0.54323	1.7	0.80722	D	1	B	0.06786	0.001	B	0.08055	0.003	T	0.64512	-0.6390	10	0.72032	D	0.01	.	18.0626	0.89382	0.0:1.0:0.0:0.0	.	187	P15153	RAC2_HUMAN	H	187;143;180	ENSP00000249071:R187H;ENSP00000385270:R143H;ENSP00000385590:R180H	ENSP00000249071:R187H	R	-	2	0	RAC2	35952678	0.998000	0.40836	0.946000	0.38457	0.848000	0.48234	3.751000	0.55165	2.254000	0.74563	0.561000	0.74099	CGC		0.632	RAC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318812.1			7	15	0	0	0	1	0	7	15					T	37622732	C	T	37622732	3	4	261	1	0	0	0	0	1	0	0	0	12975	768	27	1	22	1	RAC2	22	37622732	Missense_Mutation	SNP	C	TCGA-HI-7171-01A-12D-2114-08		37622732	13681834	44	12293											
HTR2C	3358	broad.mit.edu	37	chrX	114082718	114082718	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcatagccgtttcaattcgCggactaaggccatcatgaag	12	9	10	10	3	2	1	2	1	0	0	3	2	2	2	2	2	2	2	2	2	4	4	rs193920954		TCGA-HI-7171-01A-12D-2114-08	TCGA-HI-7171-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880022c4-45e7-4c49-92a2-231924b36310	d26a95e2-53bc-4bf8-8b58-3fe3899d106e	g.chrX:114082718C>T	ENST00000276198.1	+	5	1230	c.502C>T	c.(502-504)Cgg>Tgg	p.R168W	HTR2C_ENST00000371951.1_Missense_Mutation_p.R168W|HTR2C_ENST00000371950.3_Intron	NM_000868.2	NP_000859.1	P28335	5HT2C_HUMAN	5-hydroxytryptamine (serotonin) receptor 2C, G protein-coupled	168					behavioral fear response (GO:0001662)|cellular calcium ion homeostasis (GO:0006874)|cGMP biosynthetic process (GO:0006182)|feeding behavior (GO:0007631)|locomotory behavior (GO:0007626)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|phospholipase C-activating serotonin receptor signaling pathway (GO:0007208)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of phosphatidylinositol biosynthetic process (GO:0010513)|regulation of appetite (GO:0032098)|regulation of corticotropin-releasing hormone secretion (GO:0043397)|regulation of neurological system process (GO:0031644)|release of sequestered calcium ion into cytosol (GO:0051209)|response to drug (GO:0042493)|serotonin receptor signaling pathway (GO:0007210)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding (GO:0071886)|drug binding (GO:0008144)|Gq/11-coupled serotonin receptor activity (GO:0001587)|serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50					Agomelatine(DB06594)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Clomipramine(DB01242)|Clozapine(DB00363)|Cyproheptadine(DB00434)|Desipramine(DB01151)|Dexfenfluramine(DB01191)|Doxepin(DB01142)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Imipramine(DB00458)|Ketamine(DB01221)|Lisuride(DB00589)|Lorcaserin(DB04871)|Loxapine(DB00408)|Maprotiline(DB00934)|Methotrimeprazine(DB01403)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Pramipexole(DB00413)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Ropinirole(DB00268)|Sertindole(DB06144)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Yohimbine(DB01392)|Ziprasidone(DB00246)	TTTCAATTCGCGGACTAAGGC	0.403																																						ENST00000276198.1																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50						c.(502-504)Cgg>Tgg		5-hydroxytryptamine (serotonin) receptor 2C, G protein-coupled	Chlorprothixene(DB01239)|Clozapine(DB00363)|Dexfenfluramine(DB01191)|Fenfluramine(DB00574)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Sertindole(DB06144)|Thiethylperazine(DB00372)|Tramadol(DB00193)|Ziprasidone(DB00246)						123	104	111					X																	114082718		2203	4300	6503	SO:0001583	missense	3358				cGMP biosynthetic process|ERK1 and ERK2 cascade|feeding behavior|phosphatidylinositol biosynthetic process|release of sequestered calcium ion into cytosol|response to drug|synaptic transmission	cytoplasm|integral to membrane|nucleus|plasma membrane	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding|drug binding|phosphatidylinositol phospholipase C activity|protein binding|serotonin binding|serotonin receptor activity	g.chrX:114082718C>T		CCDS14564.1, CCDS59174.1	Xq23	2013-12-19	2012-02-03		ENSG00000147246	ENSG00000147246		"5-HT (serotonin) receptors", "GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"	5295	protein-coding gene	gene with protein product		312861	"5-hydroxytryptamine (serotonin) receptor 2C"	HTR1C		7895773	Standard	NM_000868		Approved	5-HT2C, 5HTR2C	uc004epu.1	P28335	OTTHUMG00000022226	ENST00000276198.1:c.502C>T	X.37:g.114082718C>T	ENSP00000276198:p.Arg168Trp					HTR2C_ENST00000371951.1_Missense_Mutation_p.R168W|HTR2C_ENST00000371950.3_Intron	p.R168W	NM_000868.2	NP_000859.1	P28335	5HT2C_HUMAN			5	1230	+			168					B1AMW4|Q5VUF8|Q9NP28	Missense_Mutation	SNP	ENST00000276198.1	37	c.502C>T	CCDS14564.1	.	.	.	.	.	.	.	.	.	.	C	18.29	3.591880	0.66219	.	.	ENSG00000147246	ENST00000276198;ENST00000371951	T;T	0.73152	-0.72;-0.72	4.27	4.27	0.50696	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000001	T	0.78767	0.4335	M	0.85777	2.775	0.80722	D	1	P	0.50617	0.937	P	0.49528	0.614	T	0.83314	-0.0021	10	0.72032	D	0.01	.	13.3413	0.60547	0.0:1.0:0.0:0.0	.	168	P28335	5HT2C_HUMAN	W	168	ENSP00000276198:R168W;ENSP00000361019:R168W	ENSP00000276198:R168W	R	+	1	2	HTR2C	113988974	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.688000	0.54699	1.704000	0.51252	0.544000	0.68410	CGG		0.403	HTR2C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057962.1	NM_000868		39	12	0	0	0	1	0	39	12					T	114082718	C	T	114082718	3	4	261	1	0	0	0	0	1	0	0	0	7443	759	27	1	512	1	HTR2C	23	114082718	Missense_Mutation	SNP	C	TCGA-HI-7171-01A-12D-2114-08		114082718	41187842	45	12294											
NSDHL	50814	broad.mit.edu	37	chrX	152037459	152037459	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tactacctggccctcctgctAtccctgctggtgatggtgat	5	13	10	13	0	0	2	0	2	0	0	2	2	2	2	4	3	4	2	4	3	3	3	rs375828345		TCGA-HI-7171-01A-12D-2114-08	TCGA-HI-7171-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880022c4-45e7-4c49-92a2-231924b36310	d26a95e2-53bc-4bf8-8b58-3fe3899d106e	g.chrX:152037459A>G	ENST00000370274.3	+	8	1115	c.921A>G	c.(919-921)ctA>ctG	p.L307L	NSDHL_ENST00000440023.1_Silent_p.L307L	NM_015922.2	NP_057006.1	Q15738	NSDHL_HUMAN	NAD(P) dependent steroid dehydrogenase-like	307					cholesterol biosynthetic process (GO:0006695)|hair follicle development (GO:0001942)|labyrinthine layer blood vessel development (GO:0060716)|small molecule metabolic process (GO:0044281)|smoothened signaling pathway (GO:0007224)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|lipid particle (GO:0005811)	3-beta-hydroxy-delta5-steroid dehydrogenase activity (GO:0003854)|sterol-4-alpha-carboxylate 3-dehydrogenase (decarboxylating) activity (GO:0047012)			NS(1)|breast(1)|cervix(1)|endometrium(4)|large_intestine(3)|lung(5)	15	Acute lymphoblastic leukemia(192;6.56e-05)					CCCTCCTGCTATCCCTGCTGG	0.582																																						ENST00000370274.3																			0				NS(1)|breast(1)|cervix(1)|endometrium(4)|large_intestine(3)|lung(5)	15						c.(919-921)ctA>ctG		NAD(P) dependent steroid dehydrogenase-like	NADH(DB00157)	A	,	1,3834		0,1,1631,571	101	83	89		921,921	1	0.8	X		89	0,6728		0,0,2428,1872	no	coding-synonymous,coding-synonymous	NSDHL	NM_001129765.1,NM_015922.2	,	0,1,4059,2443	GG,GA,AA,A		0.0,0.0261,0.0095	,	307/374,307/374	152037459	1,10562	2203	4300	6503	SO:0001819	synonymous_variant	50814				cholesterol biosynthetic process	endoplasmic reticulum membrane|integral to membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|C-3 sterol dehydrogenase (C-4 sterol decarboxylase) activity|sterol-4-alpha-carboxylate 3-dehydrogenase (decarboxylating) activity	g.chrX:152037459A>G	X96621	CCDS14717.1	Xq28	2011-09-14			ENSG00000147383	ENSG00000147383	1.1.1.170	"Short chain dehydrogenase/reductase superfamily / Extended SDR fold"	13398	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 31E, member 1"	300275				10710235, 12837764, 19027726	Standard	NM_015922		Approved	XAP104, H105e3, SDR31E1	uc004fgs.1	Q15738	OTTHUMG00000024185	ENST00000370274.3:c.921A>G	X.37:g.152037459A>G						NSDHL_ENST00000440023.1_Silent_p.L307L	p.L307L	NM_015922.2	NP_057006.1	Q15738	NSDHL_HUMAN			8	1115	+	Acute lymphoblastic leukemia(192;6.56e-05)		307					D3DWT6|O00344	Silent	SNP	ENST00000370274.3	37	c.921A>G	CCDS14717.1																																																																																				0.582	NSDHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060927.1	NM_015922		38	5	0	0	0	1	0	38	5					G	152037459	A	G	152037459	2	3	261	1	0	0	0	0	0	0	0	1	10670	436	16	4		4	NSDHL	23	152037459	Silent	SNP	A	TCGA-HI-7171-01A-12D-2114-08	37954741	152037459	3233101	46	12295											
CASZ1	54897	broad.mit.edu	37	chr1	10699168	10699170	+	In_Frame_Del	DEL	TCG	TCG	-																															cgtcgtcctcgtcgtcgtccTcgtcgtcgtcgtcctcgtcg																										TCGA-J4-8198-01A-11D-2260-08	TCGA-J4-8198-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d289d-fcb7-456e-833f-11f3b2d5a361	5050d3e5-3b45-4d06-b454-7ccd753837dc	g.chr1:10699168_10699170delTCG	ENST00000377022.3	-	21	5426_5428	c.5109_5111delCGA	c.(5107-5112)gacgag>gag	p.D1703del	RP4-734G22.3_ENST00000606802.1_RNA	NM_001079843.2	NP_001073312.1	Q86V15	CASZ1_HUMAN	castor zinc finger 1	1703	Asp-rich.|Glu-rich.				multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|large_intestine(13)|lung(18)|ovary(2)|prostate(5)|skin(2)|urinary_tract(1)	54	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)		gtcgtcgtcctcgtcgtcgtcgt	0.734																																						ENST00000377022.3																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|large_intestine(13)|lung(18)|ovary(2)|prostate(5)|skin(2)|urinary_tract(1)	54						c.(5107-5112)gag>ga		castor zinc finger 1				25,3049		4,17,1516						2	0.9			6	63,6157		5,53,3052	no	coding	CASZ1	NM_001079843.1		9,70,4568	A1A1,A1R,RR		1.0129,0.8133,0.9468				88,9206				SO:0001651	inframe_deletion	54897				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding	g.chr1:10699168_10699170delTCG	AK000328	CCDS120.2, CCDS41246.1	1p36.22	2013-01-07	2007-02-02		ENSG00000130940	ENSG00000130940		"Zinc fingers, C2H2-type"	26002	protein-coding gene	gene with protein product	"zinc finger protein 693", "survival related gene"	609895	"castor homolog 1, zinc finger (Drosophila)"			16631614, 21252912	Standard	NM_001079843		Approved	FLJ20321, ZNF693, castor, cst, SRG	uc001aro.4	Q86V15	OTTHUMG00000002035	ENST00000377022.3:c.5109_5111delCGA	1.37:g.10699177_10699179delTCG	ENSP00000366221:p.Asp1703del						p.DE1703del	NM_001079843.1	NP_001073312.1	Q86V15	CASZ1_HUMAN	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)	21	5426_5428	-	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	1703			Asp-rich.|Glu-rich.		Q078S9|Q2EN02|Q5T9S1|Q6ZNM8|Q8WX49|Q8WX50|Q9BT16|Q9NXC6	In_Frame_Del	DEL	ENST00000377022.3	37	c.5109_5111delCGA	CCDS41246.1																																																																																				0.734	CASZ1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005673.2	NM_017766		2	4						2	4	---	---	---	---	-	10699170	TCG	-	10699168	7	5	262	1	0	1	0	1	0	0	0	0	2685	1551	54	0	172	0	CASZ1	1	10699168	In_Frame_Del	DEL	TCG	TCGA-J4-8198-01A-11D-2260-08		10699168	238551453	1	12296											
HSPG2	3339	broad.mit.edu	37	chr1	22174288	22174288	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggtctgcccttccaccaccGtgggggaagacgactcgatc	8	7	12	14	3	1	1	0	0	1	1	4	4	2	2	4	3	1	0	4	3	1	1	rs374605446		TCGA-J4-8198-01A-11D-2260-08	TCGA-J4-8198-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d289d-fcb7-456e-833f-11f3b2d5a361	5050d3e5-3b45-4d06-b454-7ccd753837dc	g.chr1:22174288G>A	ENST00000374695.3	-	61	7998	c.7919C>T	c.(7918-7920)aCg>aTg	p.T2640M	HSPG2_ENST00000430507.1_3'UTR	NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	2640	Ig-like C2-type 12.				angiogenesis (GO:0001525)|brain development (GO:0007420)|carbohydrate metabolic process (GO:0005975)|cardiac muscle tissue development (GO:0048738)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|chondrocyte differentiation (GO:0002062)|chondroitin sulfate metabolic process (GO:0030204)|embryonic skeletal system morphogenesis (GO:0048704)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|lipoprotein metabolic process (GO:0042157)|phototransduction, visible light (GO:0007603)|protein localization (GO:0008104)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	basal lamina (GO:0005605)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Palifermin(DB00039)	TTCCACCACCGTGGGGGAAGA	0.627																																						ENST00000374695.3																			0				breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127						c.(7918-7920)aCg>aTg		heparan sulfate proteoglycan 2	Becaplermin(DB00102)|Palifermin(DB00039)	G	MET/THR	0,4406		0,0,2203	54	56	55		7919	3	0.1	1		55	1,8599	1.2+/-3.3	0,1,4299	no	missense	HSPG2	NM_005529.5	81	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging	2640/4392	22174288	1,13005	2203	4300	6503	SO:0001583	missense	3339				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding	g.chr1:22174288G>A	M85289	CCDS30625.1	1p36.1-p35	2013-01-29	2007-02-16	2007-02-16	ENSG00000142798	ENSG00000142798		"Proteoglycans / Extracellular Matrix : Other", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5273	protein-coding gene	gene with protein product	"perlecan proteoglycan"	142461	"Schwartz-Jampel syndrome 1 (chondrodystrophic myotonia)"	SJS1		1685141, 11941538	Standard	XM_005245863		Approved	perlecan, PRCAN	uc001bfj.3	P98160	OTTHUMG00000002674	ENST00000374695.3:c.7919C>T	1.37:g.22174288G>A	ENSP00000363827:p.Thr2640Met					HSPG2_ENST00000430507.1_3'UTR	p.T2640M	NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	61	7998	-		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)	2640			Ig-like C2-type 12.		Q16287|Q5SZI3|Q9H3V5	Missense_Mutation	SNP	ENST00000374695.3	37	c.7919C>T	CCDS30625.1	.	.	.	.	.	.	.	.	.	.	G	12.76	2.035510	0.35893	0.0	1.16E-4	ENSG00000142798	ENST00000374695;ENST00000453796	T;T	0.68624	-0.34;-0.34	5.13	3.02	0.34903	Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.420272	0.17487	N	0.172485	T	0.69314	0.3097	M	0.74647	2.275	0.09310	N	1	P;P	0.47841	0.891;0.901	P;P	0.48901	0.594;0.594	T	0.61549	-0.7040	10	0.56958	D	0.05	.	7.4691	0.27338	0.2539:0.0:0.7461:0.0	.	580;2640	Q59EG0;P98160	.;PGBM_HUMAN	M	2640;55	ENSP00000363827:T2640M;ENSP00000396310:T55M	ENSP00000363827:T2640M	T	-	2	0	HSPG2	22046875	0.002000	0.14202	0.104000	0.21259	0.369000	0.29798	1.268000	0.33062	1.177000	0.42855	-0.119000	0.15052	ACG		0.627	HSPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007598.1	NM_005529		3	34	0	0	0	1	0	3	34					A	22174288	G	A	22174288	3	1	262	1	0	0	0	0	1	0	0	0	7430	1145	40	1	5404	1	HSPG2	1	22174288	Missense_Mutation	SNP	G	TCGA-J4-8198-01A-11D-2260-08	11475120	22174288	227076333	2	12297											
DENND4B	9909	broad.mit.edu	37	chr1	153907309	153907309	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgctgctgctgctgctgttgCtgctgctgctgctgttgccg	0	15	14	12	1	0	0	0	0	0	0	0	0	0	0	1	0	11	12	1	0	0	2			TCGA-J4-8198-01A-11D-2260-08	TCGA-J4-8198-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d289d-fcb7-456e-833f-11f3b2d5a361	5050d3e5-3b45-4d06-b454-7ccd753837dc	g.chr1:153907309C>T	ENST00000361217.4	-	18	3118	c.2700G>A	c.(2698-2700)caG>caA	p.Q900Q	DENND4B_ENST00000474386.1_5'Flank	NM_014856.2	NP_055671.2	O75064	DEN4B_HUMAN	DENN/MADD domain containing 4B	900	Gln-rich.				positive regulation of Rab GTPase activity (GO:0032851)|regulation of Rab protein signal transduction (GO:0032483)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)	p.Q788Q(1)|p.Q900Q(1)		NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	36	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			gctgctgttgctgctgctgct	0.642																																						ENST00000361217.4																			2	Substitution - coding silent(2)	p.Q788Q(1)|p.Q900Q(1)	lung(2)	NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	36						c.(2698-2700)caG>caA		DENN/MADD domain containing 4B							33	42	39					1																	153907309		2187	4283	6470	SO:0001819	synonymous_variant	9909							g.chr1:153907309C>T	AB007945	CCDS44228.1	1q21.3	2012-10-03	2006-01-27	2006-01-27	ENSG00000198837	ENSG00000198837		"DENN/MADD domain containing"	29044	protein-coding gene	gene with protein product			"KIAA0476"	KIAA0476		9455484, 12906859	Standard	NM_014856		Approved		uc001fdd.1	O75064	OTTHUMG00000037157	ENST00000361217.4:c.2700G>A	1.37:g.153907309C>T							p.Q900Q	NM_014856.2	NP_055671.2	O75064	DEN4B_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.151)		18	3118	-	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		900			Gln-rich.		Q5T4K0	Silent	SNP	ENST00000361217.4	37	c.2700G>A	CCDS44228.1																																																																																				0.642	DENND4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090278.2	XM_375806		3	67	0	0	0	1	0	3	67					T	153907309	C	T	153907309	2	4	262	1	0	0	0	0	0	0	0	1	4434	796	28	3		3	DENND4B	1	153907309	Silent	SNP	C	TCGA-J4-8198-01A-11D-2260-08	131733021	153907309	95343312	3	12298											
KIAA1614	57710	broad.mit.edu	37	chr1	180907822	180907822	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcctgcagaggacagggtcaGgatctggaggacatgtgctg	9	7	17	8	0	2	1	1	0	1	1	2	5	2	5	1	5	2	2	1	5	0	0			TCGA-J4-8198-01A-11D-2260-08	TCGA-J4-8198-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d289d-fcb7-456e-833f-11f3b2d5a361	5050d3e5-3b45-4d06-b454-7ccd753837dc	g.chr1:180907822G>A	ENST00000367588.4	+	6	2948	c.2893G>A	c.(2893-2895)Gga>Aga	p.G965R	KIAA1614_ENST00000367587.1_Missense_Mutation_p.G586R	NM_020950.1	NP_066001.1	Q5VZ46	K1614_HUMAN	KIAA1614	965	Ser-rich.									NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	33						GACAGGGTCAGGATCTGGAGG	0.582																																						ENST00000367588.4																			0				NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	33						c.(2893-2895)Gga>Aga		KIAA1614							69	76	74					1																	180907822		2150	4274	6424	SO:0001583	missense	57710							g.chr1:180907822G>A	AB046834	CCDS41442.1	1q25.3	2008-02-05			ENSG00000135835	ENSG00000135835			29327	protein-coding gene	gene with protein product							Standard	NM_020950		Approved		uc001gok.2	Q5VZ46	OTTHUMG00000035183	ENST00000367588.4:c.2893G>A	1.37:g.180907822G>A	ENSP00000356560:p.Gly965Arg					KIAA1614_ENST00000367587.1_Missense_Mutation_p.G586R	p.G965R	NM_020950.1	NP_066001.1	Q5VZ46	K1614_HUMAN			6	2948	+			965			Ser-rich.		Q5VZ45|Q9HCF8	Missense_Mutation	SNP	ENST00000367588.4	37	c.2893G>A	CCDS41442.1	.	.	.	.	.	.	.	.	.	.	G	7.261	0.605282	0.14002	.	.	ENSG00000135835	ENST00000367588;ENST00000367587	T;T	0.23147	2.49;1.92	4.6	-1.38	0.09027	.	1.213900	0.06011	N	0.649433	T	0.14485	0.0350	N	0.22421	0.69	0.25192	N	0.990126	B;B	0.09022	0.001;0.002	B;B	0.08055	0.001;0.003	T	0.32666	-0.9898	9	0.51188	T	0.08	0.306	1.2026	0.01888	0.329:0.3688:0.1216:0.1806	.	586;965	Q5VZ46-2;Q5VZ46	.;K1614_HUMAN	R	965;586	ENSP00000356560:G965R;ENSP00000356559:G586R	ENSP00000356559:G586R	G	+	1	0	KIAA1614	179174445	0.000000	0.05858	0.001000	0.08648	0.048000	0.14542	0.153000	0.16323	-0.083000	0.12618	0.561000	0.74099	GGA		0.582	KIAA1614-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000085151.1	XM_046531		3	49	0	0	0	1	0	3	49					A	180907822	G	A	180907822	3	1	262	1	0	0	0	0	1	0	0	0	8248	1001	35	3	2915	3	KIAA1614	1	180907822	Missense_Mutation	SNP	G	TCGA-J4-8198-01A-11D-2260-08	27000513	180907822	68342799	4	12299											
IARS2	55699	broad.mit.edu	37	chr1	220273972	220273972	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gaagctcagaatctttcagcTatggaaattagaaagaaagg	17	9	10	5	0	3	3	2	0	1	3	3	5	3	4	0	2	2	2	0	2	7	3			TCGA-J4-8198-01A-11D-2260-08	TCGA-J4-8198-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d289d-fcb7-456e-833f-11f3b2d5a361	5050d3e5-3b45-4d06-b454-7ccd753837dc	g.chr1:220273972T>C	ENST00000302637.5	+	3	635	c.531T>C	c.(529-531)gcT>gcC	p.A177A	IARS2_ENST00000366922.1_Silent_p.A105A	NM_018060.3	NP_060530.3	Q9NSE4	SYIM_HUMAN	isoleucyl-tRNA synthetase 2, mitochondrial	177					gene expression (GO:0010467)|isoleucyl-tRNA aminoacylation (GO:0006428)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|isoleucine-tRNA ligase activity (GO:0004822)			NS(1)|breast(1)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(17)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	51				GBM - Glioblastoma multiforme(131;0.0554)	L-Isoleucine(DB00167)	ATCTTTCAGCTATGGAAATTA	0.348																																						ENST00000366922.1																			0				NS(1)|breast(1)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(17)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	51						c.(313-315)gcT>gcC		isoleucyl-tRNA synthetase 2, mitochondrial	L-Isoleucine(DB00167)						54	60	58					1																	220273972		2203	4300	6503	SO:0001819	synonymous_variant	55699				isoleucyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|isoleucine-tRNA ligase activity	g.chr1:220273972T>C	AK022665	CCDS1523.1	1q41	2011-07-01	2007-02-26		ENSG00000067704	ENSG00000067704	6.1.1.5	"Aminoacyl tRNA synthetases / Class I"	29685	protein-coding gene	gene with protein product	"isoleucine tRNA ligase 2, mitochondrial"	612801					Standard	NM_018060		Approved	FLJ10326	uc001hmc.3	Q9NSE4	OTTHUMG00000037287	ENST00000302637.5:c.531T>C	1.37:g.220273972T>C						IARS2_ENST00000302637.5_Silent_p.A177A	p.A105A			Q9NSE4	SYIM_HUMAN		GBM - Glioblastoma multiforme(131;0.0554)	3	646	+			177					B2RPG8|Q1M2P9|Q6PI85|Q7L439|Q86WU9|Q96D91|Q9H9Q8|Q9NW42	Silent	SNP	ENST00000302637.5	37	c.315T>C	CCDS1523.1																																																																																				0.348	IARS2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_018060		19	28	0	0	0	1	0	19	28					C	220273972	T	C	220273972	2	2	262	1	0	0	0	0	0	0	0	1	7474	1509	53	4		4	IARS2	1	220273972	Silent	SNP	T	TCGA-J4-8198-01A-11D-2260-08	39366150	220273972	28976649	5	12300											
FMN2	56776	broad.mit.edu	37	chr1	240371422	240371422	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cccctccgccccctctacccGgagtgggcatacctcctccg	4	7	8	22	3	1	0	0	0	1	0	4	1	4	1	9	2	2	1	9	2	2	2			TCGA-J4-8198-01A-11D-2260-08	TCGA-J4-8198-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d289d-fcb7-456e-833f-11f3b2d5a361	5050d3e5-3b45-4d06-b454-7ccd753837dc	g.chr1:240371422G>A	ENST00000319653.9	+	5	3540	c.3310G>A	c.(3310-3312)Gga>Aga	p.G1104R		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	1104	FH1.|Pro-rich.				cellular response to DNA damage stimulus (GO:0006974)|cellular response to hypoxia (GO:0071456)|establishment of meiotic spindle localization (GO:0051295)|formin-nucleated actin cable assembly (GO:0070649)|homologous chromosome movement towards spindle pole involved in homologous chromosome segregation (GO:0051758)|intracellular signal transduction (GO:0035556)|intracellular transport (GO:0046907)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein catabolic process (GO:0042177)|oogenesis (GO:0048477)|polar body extrusion after meiotic divisions (GO:0040038)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cell cortex (GO:0005938)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|microvillus (GO:0005902)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|spindle (GO:0005819)	actin binding (GO:0003779)			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			CCCTCTACCCGGAGTGGGCAT	0.736																																						ENST00000319653.9																			0				NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178						c.(3310-3312)Gga>Aga		formin 2							8	10	10					1																	240371422		2044	4114	6158	SO:0001583	missense	56776				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding	g.chr1:240371422G>A	AF218942	CCDS31069.2	1q43	2008-02-05			ENSG00000155816	ENSG00000155816			14074	protein-coding gene	gene with protein product		606373				10781961	Standard	NM_020066		Approved		uc010pyd.2	Q9NZ56	OTTHUMG00000039883	ENST00000319653.9:c.3310G>A	1.37:g.240371422G>A	ENSP00000318884:p.Gly1104Arg						p.G1104R	NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0106)		5	3540	+	Ovarian(103;0.127)	all_cancers(173;0.013)	1104			FH1.|Pro-rich.		B0QZA7|B4DP05|Q59GF6|Q5VU37|Q9NZ55	Missense_Mutation	SNP	ENST00000319653.9	37	c.3310G>A	CCDS31069.2	.	.	.	.	.	.	.	.	.	.	g	8.191	0.795945	0.16327	.	.	ENSG00000155816	ENST00000319653	T	0.67865	-0.29	3.36	3.36	0.38483	Actin-binding FH2/DRF autoregulatory (1);Formin Homology 1 (2);	0.000000	0.43919	U	0.000513	T	0.66499	0.2795	M	0.90483	3.12	0.20196	N	0.999922	P	0.46912	0.886	B	0.36464	0.225	T	0.68507	-0.5390	9	.	.	.	.	8.8793	0.35365	0.1079:0.0:0.8921:0.0	.	1104	Q9NZ56	FMN2_HUMAN	R	1104	ENSP00000318884:G1104R	.	G	+	1	0	FMN2	238438045	0.018000	0.18449	0.061000	0.19648	0.015000	0.08874	0.781000	0.26774	1.869000	0.54173	0.484000	0.47621	GGA		0.736	FMN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096217.2	XM_371352		42	159	0	0	0	1	0	42	159					A	240371422	G	A	240371422	3	1	262	1	0	0	0	0	1	0	0	0	5950	1117	39	2	3328	2	FMN2	1	240371422	Missense_Mutation	SNP	G	TCGA-J4-8198-01A-11D-2260-08	20097450	240371422	8879199	6	12301											
SLC3A1	6519	broad.mit.edu	37	chr2	44547502	44547502	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	ggcatcgacagaatctttatCgtggttctgaattttggaga	10	14	11	6	2	2	3	0	1	2	2	4	5	2	3	0	3	0	2	0	3	3	5	rs373561366		TCGA-J4-8198-01A-11D-2260-08	TCGA-J4-8198-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d289d-fcb7-456e-833f-11f3b2d5a361	5050d3e5-3b45-4d06-b454-7ccd753837dc	g.chr2:44547502C>G	ENST00000260649.6	+	10	1858	c.1782C>G	c.(1780-1782)atC>atG	p.I594M	SLC3A1_ENST00000409380.1_Missense_Mutation_p.I316M|SLC3A1_ENST00000409740.3_Missense_Mutation_p.I225M|PREPL_ENST00000409411.1_3'UTR|PREPL_ENST00000541738.1_3'UTR|PREPL_ENST00000409936.1_3'UTR|PREPL_ENST00000409957.1_3'UTR	NM_000341.3	NP_000332.2	Q07837	SLC31_HUMAN	solute carrier family 3 (amino acid transporter heavy chain), member 1	594					amino acid transmembrane transport (GO:0003333)|amino acid transport (GO:0006865)|basic amino acid transport (GO:0015802)|carbohydrate metabolic process (GO:0005975)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|L-cystine transport (GO:0015811)|transmembrane transport (GO:0055085)	brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)|vacuolar membrane (GO:0005774)	amino acid transmembrane transporter activity (GO:0015171)|basic amino acid transmembrane transporter activity (GO:0015174)|catalytic activity (GO:0003824)|cation binding (GO:0043169)|L-cystine transmembrane transporter activity (GO:0015184)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(1)|skin(3)	26		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)			L-Cystine(DB00138)	GAATCTTTATCGTGGTTCTGA	0.423																																						ENST00000260649.6																			0				breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(1)|skin(3)	26						c.(1780-1782)atC>atG		solute carrier family 3 (amino acid transporter heavy chain), member 1	L-Cystine(DB00138)						141	125	130					2																	44547502		2203	4300	6503	SO:0001583	missense	6519				carbohydrate metabolic process|cellular amino acid metabolic process|ion transport	integral to plasma membrane|membrane fraction	basic amino acid transmembrane transporter activity|catalytic activity|cation binding|L-cystine transmembrane transporter activity	g.chr2:44547502C>G		CCDS1819.1	2p16.3	2013-07-19	2013-07-19		ENSG00000138079	ENSG00000138079		"Solute carriers"	11025	protein-coding gene	gene with protein product		104614	"solute carrier family 3 (cystine, dibasic and neutral amino acid transporters, activator of cystine, dibasic and neutral amino acid transport), member 1"			8486766, 9186880	Standard	NM_000341		Approved	CSNU1, D2H, RBAT, ATR1, NBAT	uc002ruc.4	Q07837	OTTHUMG00000128759	ENST00000260649.6:c.1782C>G	2.37:g.44547502C>G	ENSP00000260649:p.Ile594Met					SLC3A1_ENST00000409740.3_Missense_Mutation_p.I225M|PREPL_ENST00000409957.1_3'UTR|PREPL_ENST00000409936.1_3'UTR|PREPL_ENST00000409411.1_3'UTR|PREPL_ENST00000541738.1_3'UTR|SLC3A1_ENST00000409380.1_Missense_Mutation_p.I316M	p.I594M	NM_000341.3	NP_000332.2	Q07837	SLC31_HUMAN			10	1858	+		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	594					A8K0S1|O00658|Q15295|Q4J6B4|Q4J6B5|Q4J6B6|Q4J6B7|Q4J6B8|Q4J6B9|Q52M92|Q52M94	Missense_Mutation	SNP	ENST00000260649.6	37	c.1782C>G	CCDS1819.1	.	.	.	.	.	.	.	.	.	.	C	7.553	0.663104	0.14710	.	.	ENSG00000138079	ENST00000260649;ENST00000540334;ENST00000409380;ENST00000409740	D;D;D	0.97161	-4.27;-4.27;-4.27	5.99	-1.18	0.09617	.	0.538850	0.21191	N	0.078659	D	0.89849	0.6834	N	0.16368	0.405	0.23076	N	0.998331	B	0.16396	0.017	B	0.13407	0.009	T	0.80511	-0.1350	10	0.36615	T	0.2	-6.3642	3.6354	0.08147	0.0889:0.422:0.2955:0.1936	.	594	Q07837	SLC31_HUMAN	M	594;530;316;225	ENSP00000260649:I594M;ENSP00000386709:I316M;ENSP00000386677:I225M	ENSP00000260649:I594M	I	+	3	3	SLC3A1	44401006	0.149000	0.22717	0.003000	0.11579	0.517000	0.34286	-0.760000	0.04756	-0.572000	0.06006	-0.169000	0.13324	ATC		0.423	SLC3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250676.1	NM_000341		18	67	0	0	0	1	0	18	67					G	44547502	C	G	44547502	3	3	262	1	0	0	0	0	1	0	0	0	14626	874	31	5	1820	5	SLC3A1	2	44547502	Missense_Mutation	SNP	C	TCGA-J4-8198-01A-11D-2260-08		44547502	198651871	7	12302											
CNTNAP5	129684	broad.mit.edu	37	chr2	125547651	125547651	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cacaacgggggcaagtgtgtGgagaagcacaatggctacct	12	6	14	9	1	0	1	0	0	0	1	0	2	0	1	1	4	3	3	1	4	5	1			TCGA-J4-8198-01A-11D-2260-08	TCGA-J4-8198-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d289d-fcb7-456e-833f-11f3b2d5a361	5050d3e5-3b45-4d06-b454-7ccd753837dc	g.chr2:125547651G>A	ENST00000431078.1	+	18	3286	c.2922G>A	c.(2920-2922)gtG>gtA	p.V974V		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	974	EGF-like 2. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		GCAAGTGTGTGGAGAAGCACA	0.557																																						ENST00000431078.1																			0				NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176						c.(2920-2922)gtG>gtA		contactin associated protein-like 5							62	70	67					2																	125547651		2107	4223	6330	SO:0001819	synonymous_variant	129684				cell adhesion|signal transduction	integral to membrane	receptor binding	g.chr2:125547651G>A	AB077881	CCDS46401.1	2q14.1	2008-02-05			ENSG00000155052	ENSG00000155052			18748	protein-coding gene	gene with protein product		610519					Standard	NM_130773		Approved	caspr5, FLJ31966	uc002tno.3	Q8WYK1	OTTHUMG00000153356	ENST00000431078.1:c.2922G>A	2.37:g.125547651G>A							p.V974V	NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.248)	18	3286	+			974			EGF-like 2.		Q4ZFW2|Q4ZG21|Q53R09|Q53RX1|Q53SG3|Q584P3|Q96MS7	Silent	SNP	ENST00000431078.1	37	c.2922G>A	CCDS46401.1																																																																																				0.557	CNTNAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330864.3			16	22	0	0	0	1	0	16	22					A	125547651	G	A	125547651	2	1	262	1	0	0	0	0	0	0	0	1	3650	1335	47	3		3	CNTNAP5	2	125547651	Silent	SNP	G	TCGA-J4-8198-01A-11D-2260-08	81000149	125547651	117651722	8	12303											
RIF1	55183	broad.mit.edu	37	chr2	152322042	152322042	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tggggaactagatggaggaaAtgatgtatctgatctacact	13	11	12	5	0	2	3	0	2	2	1	2	6	2	6	0	4	2	1	0	4	5	3			TCGA-J4-8198-01A-11D-2260-08	TCGA-J4-8198-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d289d-fcb7-456e-833f-11f3b2d5a361	5050d3e5-3b45-4d06-b454-7ccd753837dc	g.chr2:152322042A>C	ENST00000243326.5	+	29	6491	c.6008A>C	c.(6007-6009)aAt>aCt	p.N2003T	RIF1_ENST00000430328.2_Missense_Mutation_p.N2003T|RIF1_ENST00000428287.2_Missense_Mutation_p.N2003T|RIF1_ENST00000444746.2_Missense_Mutation_p.N2003T|RIF1_ENST00000453091.2_Missense_Mutation_p.N2003T			Q9Y581	INSL6_HUMAN	replication timing regulatory factor 1	0					fertilization (GO:0009566)|male gonad development (GO:0008584)|negative regulation of apoptotic process (GO:0043066)|sperm motility (GO:0030317)|spermatid development (GO:0007286)	extracellular region (GO:0005576)	hormone activity (GO:0005179)			NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	97				BRCA - Breast invasive adenocarcinoma(221;0.0429)		GATGGAGGAAATGATGTATCT	0.368																																						ENST00000243326.4																			0				NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	97						c.(6007-6009)aAt>aCt		RAP1 interacting factor homolog (yeast)							56	57	57					2																	152322042		2203	4300	6503	SO:0001583	missense	55183				cell cycle|response to DNA damage stimulus	chromosome, telomeric region|cytoplasm|nucleus|spindle	binding	g.chr2:152322042A>C	AK022932	CCDS2194.1, CCDS54406.1	2q23.3	2014-06-02	2014-06-02		ENSG00000080345	ENSG00000080345			23207	protein-coding gene	gene with protein product		608952	"RAP1 interacting factor homolog (yeast)"			15342490, 15042697, 22850674	Standard	NM_018151		Approved	FLJ12870, FLJ10599	uc002txm.3	Q5UIP0	OTTHUMG00000131886	ENST00000243326.5:c.6008A>C	2.37:g.152322042A>C	ENSP00000243326:p.Asn2003Thr					RIF1_ENST00000444746.2_Missense_Mutation_p.N2003T|RIF1_ENST00000428287.2_Missense_Mutation_p.N2003T|RIF1_ENST00000430328.2_Missense_Mutation_p.N2003T|RIF1_ENST00000453091.2_Missense_Mutation_p.N2003T	p.N2003T			Q5UIP0	RIF1_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0429)	29	6491	+			2003			Interaction with condensed chromosomes in telophase.		A0AVS0|Q9NS16	Missense_Mutation	SNP	ENST00000243326.5	37	c.6008A>C	CCDS2194.1	.	.	.	.	.	.	.	.	.	.	A	10.50	1.368755	0.24771	.	.	ENSG00000080345	ENST00000444746;ENST00000453091;ENST00000428287;ENST00000243326;ENST00000430328	T;T;T;T;T	0.10668	2.87;2.85;2.85;2.87;2.85	5.6	-5.4	0.02656	.	1.269580	0.04585	N	0.395690	T	0.06781	0.0173	N	0.14661	0.345	0.09310	N	1	B;B	0.19706	0.022;0.038	B;B	0.15870	0.01;0.014	T	0.36529	-0.9744	10	0.19147	T	0.46	0.7654	13.8987	0.63790	0.7105:0.0:0.2895:0.0	.	2003;2003	Q5UIP0;Q5UIP0-2	RIF1_HUMAN;.	T	2003	ENSP00000390181:N2003T;ENSP00000414615:N2003T;ENSP00000415691:N2003T;ENSP00000243326:N2003T;ENSP00000416123:N2003T	ENSP00000243326:N2003T	N	+	2	0	RIF1	152030288	0.130000	0.22417	0.000000	0.03702	0.001000	0.01503	0.438000	0.21559	-1.231000	0.02557	-0.917000	0.02746	AAT		0.368	RIF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254836.3			8	15	0	0	0	1	0	8	15					C	152322042	A	C	152322042	3	2	262	1	0	0	0	0	1	0	0	0	13359	101	4	5	6122	5	RIF1	2	152322042	Missense_Mutation	SNP	A	TCGA-J4-8198-01A-11D-2260-08	26774391	152322042	90877331	9	12304											
CLASP2	23122	broad.mit.edu	37	chr3	33686339	33686339	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcaggaaccttgaaggctgAtgcagctgatgatggcctat	10	10	13	8	0	0	4	0	4	0	0	0	5	0	5	2	3	4	4	2	3	3	2			TCGA-J4-8198-01A-11D-2260-08	TCGA-J4-8198-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d289d-fcb7-456e-833f-11f3b2d5a361	5050d3e5-3b45-4d06-b454-7ccd753837dc	g.chr3:33686339A>G	ENST00000468888.2	-	8	818	c.772T>C	c.(772-774)Tca>Cca	p.S258P	CLASP2_ENST00000399362.4_Missense_Mutation_p.S258P|CLASP2_ENST00000313350.6_Missense_Mutation_p.S31P|CLASP2_ENST00000480013.1_Missense_Mutation_p.S25P|CLASP2_ENST00000359576.5_Missense_Mutation_p.S258P|CLASP2_ENST00000482896.1_5'UTR|CLASP2_ENST00000307312.7_5'UTR|CLASP2_ENST00000487200.1_Missense_Mutation_p.S31P|CLASP2_ENST00000333778.6_Missense_Mutation_p.S35P|CLASP2_ENST00000539981.1_Missense_Mutation_p.S31P|CLASP2_ENST00000461133.3_Missense_Mutation_p.S25P			O75122	CLAP2_HUMAN	cytoplasmic linker associated protein 2	25					axon guidance (GO:0007411)|establishment or maintenance of cell polarity (GO:0007163)|fucosylation (GO:0036065)|microtubule anchoring (GO:0034453)|microtubule nucleation (GO:0007020)|microtubule organizing center organization (GO:0031023)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of microtubule depolymerization (GO:0007026)|regulation of microtubule polymerization or depolymerization (GO:0031110)|regulation of microtubule-based process (GO:0032886)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|kinetochore (GO:0000776)|kinetochore microtubule (GO:0005828)|membrane (GO:0016020)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|trans-Golgi network (GO:0005802)	galactoside 2-alpha-L-fucosyltransferase activity (GO:0008107)|microtubule plus-end binding (GO:0051010)			breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	48						TTGAAGGCTGATGCAGCTGAT	0.438																																						ENST00000399362.4																			0				breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	48						c.(772-774)Tca>Cca		cytoplasmic linker associated protein 2							98	93	94					3																	33686339		1954	4157	6111	SO:0001583	missense	23122							g.chr3:33686339A>G	AB014527		3p24.3	2013-01-18			ENSG00000163539	ENSG00000163539			17078	protein-coding gene	gene with protein product		605853				9734811, 10899121	Standard	NM_015097		Approved	KIAA0627	uc021wvc.1	O75122	OTTHUMG00000156489	ENST00000468888.2:c.772T>C	3.37:g.33686339A>G	ENSP00000419974:p.Ser258Pro					CLASP2_ENST00000359576.5_Missense_Mutation_p.S258P|CLASP2_ENST00000539981.1_Missense_Mutation_p.S31P|CLASP2_ENST00000461133.3_Missense_Mutation_p.S25P|CLASP2_ENST00000468888.2_Missense_Mutation_p.S258P|CLASP2_ENST00000313350.6_Missense_Mutation_p.S31P|CLASP2_ENST00000307312.7_5'UTR|CLASP2_ENST00000482896.1_5'UTR|CLASP2_ENST00000333778.6_Missense_Mutation_p.S35P|CLASP2_ENST00000480013.1_Missense_Mutation_p.S25P|CLASP2_ENST00000487200.1_Missense_Mutation_p.S31P	p.S258P	NM_015097.2	NP_055912.2	B2RTR1	B2RTR1_HUMAN			8	1125	-			258					Q7L8F6|Q8N6R6|Q9BQT3|Q9BQT4|Q9H7A3|Q9NSZ2	Missense_Mutation	SNP	ENST00000468888.2	37	c.772T>C		.	.	.	.	.	.	.	.	.	.	A	18.42	3.619070	0.66787	.	.	ENSG00000163539	ENST00000468888;ENST00000399362;ENST00000359576;ENST00000539981;ENST00000480013;ENST00000461133;ENST00000313350;ENST00000487200;ENST00000333778;ENST00000485378;ENST00000496954	T;T;T	0.22336	1.96;1.99;1.99	5.97	5.97	0.96955	.	0.213930	0.41097	D	0.000957	T	0.35566	0.0936	L	0.43923	1.385	0.80722	D	1	B;D;D;P	0.60575	0.104;0.988;0.973;0.718	B;P;P;P	0.59825	0.04;0.864;0.786;0.528	T	0.04693	-1.0933	10	0.72032	D	0.01	-15.2732	15.0245	0.71659	1.0:0.0:0.0:0.0	.	35;31;31;258	E7ENG2;B3KR06;O75122-2;F5H604	.;.;.;.	P	258;258;258;31;25;25;31;31;35;31;25	ENSP00000419974:S258P;ENSP00000382297:S258P;ENSP00000352581:S258P	ENSP00000324364:S31P	S	-	1	0	CLASP2	33661343	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.812000	0.62613	2.285000	0.76669	0.477000	0.44152	TCA		0.438	CLASP2-001	NOVEL	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000344320.4	NM_001207044		2	10	0	0	0	1	0	2	10					G	33686339	A	G	33686339	3	3	262	1	0	0	0	0	1	0	0	0	3455	333	12	4	3872	4	CLASP2	3	33686339	Missense_Mutation	SNP	A	TCGA-J4-8198-01A-11D-2260-08		33686339	164336091	10	12305											
HELQ	113510	broad.mit.edu	37	chr4	84375053	84375060	+	Frame_Shift_Del	DEL	TAAAGCTA	TAAAGCTA	-																															agctataaaggagttttcagTaaagctatcatagtcaccaa																								rs199666920		TCGA-J4-8198-01A-11D-2260-08	TCGA-J4-8198-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d289d-fcb7-456e-833f-11f3b2d5a361	5050d3e5-3b45-4d06-b454-7ccd753837dc	g.chr4:84375053_84375060delTAAAGCTA	ENST00000295488.3	-	2	498_505	c.336_343delTAGCTTTA	c.(334-345)gatagctttactfs	p.SFT113fs	MRPS18C_ENST00000507019.1_5'Flank|HELQ_ENST00000510985.1_Frame_Shift_Del_p.SFT113fs|HELQ_ENST00000440639.2_5'UTR|MRPS18C_ENST00000295491.4_5'Flank|MRPS18C_ENST00000507349.1_5'Flank	NM_133636.2	NP_598375	Q8TDG4	HELQ_HUMAN	helicase, POLQ-like	113					double-strand break repair via homologous recombination (GO:0000724)	nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)			breast(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(10)|lung(17)|ovary(2)|skin(2)	38						GAGTTTTCAGTAAAGCTATCATAGTCAC	0.375								Other identified genes with known or suspected DNA repair function																														ENST00000295488.3																			0				breast(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(10)|lung(17)|ovary(2)|skin(2)	38						c.(334-345)gactfs	Other identified genes with known or suspected DNA repair function	helicase, POLQ-like																																				SO:0001589	frameshift_variant	113510						ATP binding|ATP-dependent helicase activity|nucleic acid binding	g.chr4:84375053_84375060delTAAAGCTA	AF436845	CCDS3603.1, CCDS75158.1	4q21.23	2009-02-26			ENSG00000163312	ENSG00000163312			18536	protein-coding gene	gene with protein product		606769				11751861	Standard	XM_005262711		Approved	Hel308	uc003hom.3	Q8TDG4	OTTHUMG00000130423	ENST00000295488.3:c.336_343delTAGCTTTA	4.37:g.84375053_84375060delTAAAGCTA	ENSP00000295488:p.Ser113fs					HELQ_ENST00000440639.2_5'UTR|HELQ_ENST00000510985.1_Frame_Shift_Del_p.DSFT112fs	p.DSFT112fs	NM_133636.2	NP_598375.2	Q8TDG4	HELQ_HUMAN			2	498_505	-			112					Q05DF9|Q502W9|Q659B8|Q6ZQX4|Q6ZTS4|Q96EX7	Frame_Shift_Del	DEL	ENST00000295488.3	37	c.336_343delTAGCTTTA	CCDS3603.1																																																																																				0.375	HELQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252810.1	NM_133636		27	135						27	135	---	---	---	---	-	84375060	TAAAGCTA	-	84375053	7	5	262	1	0	1	0	1	0	0	0	0	7047	1638	57	0	3030	0	HELQ	4	84375053	Frame_Shift_Del	DEL	TAAAGCTA	TCGA-J4-8198-01A-11D-2260-08		84375053	106779223	11	12306											
DDX60L	91351	broad.mit.edu	37	chr4	169325133	169325133	+	Splice_Site	DEL	A	A	-																															attaagtttcagttacttacAaaaaaaatattgcaggcaac																										TCGA-J4-8198-01A-11D-2260-08	TCGA-J4-8198-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d289d-fcb7-456e-833f-11f3b2d5a361	5050d3e5-3b45-4d06-b454-7ccd753837dc	g.chr4:169325133delA	ENST00000511577.1	-	25	3585	c.3338delT	c.(3337-3339)ttg>tg	p.L1113fs	DDX60L_ENST00000260184.7_Splice_Site_p.L1113fs|DDX60L_ENST00000505890.1_Splice_Site_p.L1113fs			Q5H9U9	DDX6L_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like	1113							ATP binding (GO:0005524)|helicase activity (GO:0004386)|RNA binding (GO:0003723)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.175)		AGTTACTTACAAAAAAAATAT	0.274																																						ENST00000511577.1																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43						c.e25+1		DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like							30	27	28					4																	169325133		1786	4046	5832	SO:0001630	splice_region_variant	91351						ATP binding|ATP-dependent helicase activity|RNA binding	g.chr4:169325133delA	AK092461	CCDS47161.1	4q32.3	2008-01-08				ENSG00000181381			26429	protein-coding gene	gene with protein product							Standard	XM_005263341		Approved	FLJ31033	uc003irq.4	Q5H9U9		ENST00000511577.1:c.3338+1T>-	4.37:g.169325133delA						DDX60L_ENST00000260184.7_Splice_Site_p.L1113_splice|DDX60L_ENST00000505890.1_Splice_Site_p.L1113_splice	p.L1113_splice			Q5H9U9	DDX6L_HUMAN		GBM - Glioblastoma multiforme(119;0.175)	25	3585	-		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)	1113					Q96ND6	Splice_Site	DEL	ENST00000511577.1	37	c.3338_splice																																																																																					0.274	DDX60L-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000364839.1	NM_001012967	Frame_Shift_Del	3	3						3	3	---	---	---	---	-	169325133	A	-	169325133	8	5	262	1	0	1	0	1	0	0	1	0	4379	144	5	0	1838	0	DDX60L	4	169325133	Splice_Site	DEL	A	TCGA-J4-8198-01A-11D-2260-08	84950080	169325133	21829143	12	12307											
C6	729	broad.mit.edu	37	chr5	41154017	41154017	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcctttggggcaagttagctCaatggattcaccaattctat	10	13	9	9	0	3	0	2	0	1	0	3	1	3	1	2	3	1	3	2	3	5	5	rs545743707		TCGA-J4-8198-01A-11D-2260-08	TCGA-J4-8198-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d289d-fcb7-456e-833f-11f3b2d5a361	5050d3e5-3b45-4d06-b454-7ccd753837dc	g.chr5:41154017C>T	ENST00000263413.3	-	15	2449	c.2185G>A	c.(2185-2187)Gag>Aag	p.E729K	C6_ENST00000337836.5_Missense_Mutation_p.E729K	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	729	C5b-binding domain.|CCP 2.|Sushi 2. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane attack complex (GO:0005579)				central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				CAAGTTAGCTCAATGGATTCA	0.478													C|||	1	0.000199681	0	0	5008	,	,		20228	0		0	False		,,,				2504	0.001					ENST00000263413.3																			0				central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96						c.(2185-2187)Gag>Aag		complement component 6							121	106	111					5																	41154017		2203	4300	6503	SO:0001583	missense	729				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding	g.chr5:41154017C>T	J05024	CCDS3936.1	5p13.1	2014-09-17			ENSG00000039537	ENSG00000039537		"Complement system"	1339	protein-coding gene	gene with protein product		217050					Standard	NM_001115131		Approved		uc003jmk.3	P13671	OTTHUMG00000094781	ENST00000263413.3:c.2185G>A	5.37:g.41154017C>T	ENSP00000263413:p.Glu729Lys					C6_ENST00000337836.5_Missense_Mutation_p.E729K	p.E729K	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN			15	2449	-		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)	729			C5b-binding domain.|Sushi 2.			Missense_Mutation	SNP	ENST00000263413.3	37	c.2185G>A	CCDS3936.1	.	.	.	.	.	.	.	.	.	.	C	4.300	0.054913	0.08291	.	.	ENSG00000039537	ENST00000337836;ENST00000263413	T;T	0.63913	-0.07;-0.07	5.46	2.27	0.28462	Complement control module (2);Sushi/SCR/CCP (3);	0.518334	0.22969	N	0.053446	T	0.43590	0.1254	L	0.38175	1.15	0.39503	D	0.968231	B	0.16166	0.016	B	0.19666	0.026	T	0.23797	-1.0178	10	0.06236	T	0.91	-16.6662	8.1735	0.31268	0.0:0.2625:0.6213:0.1162	.	729	P13671	CO6_HUMAN	K	729	ENSP00000338861:E729K;ENSP00000263413:E729K	ENSP00000263413:E729K	E	-	1	0	C6	41189774	0.921000	0.31238	0.999000	0.59377	0.866000	0.49608	0.288000	0.18939	1.290000	0.44636	-0.315000	0.08773	GAG		0.478	C6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211592.1			17	48	0	0	0	1	0	17	48					T	41154017	C	T	41154017	3	4	262	1	0	0	0	0	1	0	0	0	2315	835	29	3	635	3	C6	5	41154017	Missense_Mutation	SNP	C	TCGA-J4-8198-01A-11D-2260-08		41154017	139761243	13	12308											
LRFN2	57497	broad.mit.edu	37	chr6	40360553	40360553	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgttggtggccgtgagtgtcGtggctgtgtcatcccacatg	4	13	15	9	2	1	1	1	1	0	0	3	1	2	1	2	3	0	2	2	3	0	1			TCGA-J4-8198-01A-11D-2260-08	TCGA-J4-8198-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d289d-fcb7-456e-833f-11f3b2d5a361	5050d3e5-3b45-4d06-b454-7ccd753837dc	g.chr6:40360553G>A	ENST00000338305.6	-	3	2041	c.1499C>T	c.(1498-1500)aCg>aTg	p.T500M		NM_020737.1	NP_065788.1	Q9ULH4	LRFN2_HUMAN	leucine rich repeat and fibronectin type III domain containing 2	500	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.					cell junction (GO:0030054)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	58	Ovarian(28;0.0418)|Colorectal(47;0.196)					CGTGAGTGTCGTGGCTGTGTC	0.602																																						ENST00000338305.6																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	58						c.(1498-1500)aCg>aTg		leucine rich repeat and fibronectin type III domain containing 2							61	49	53					6																	40360553		2203	4300	6503	SO:0001583	missense	57497					cell junction|integral to membrane|postsynaptic membrane		g.chr6:40360553G>A	AB033072	CCDS34443.1	6p21.2-p21.1	2013-02-11	2004-02-02	2004-02-04	ENSG00000156564	ENSG00000156564		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	21226	protein-coding gene	gene with protein product	"fibronectin type III, immunoglobulin and leucine rich repeat domains 2"	612808	"KIAA1246"	KIAA1246, SALM1		16495444, 16828986	Standard	NM_020737		Approved	FIGLER2	uc003oph.1	Q9ULH4	OTTHUMG00000014662	ENST00000338305.6:c.1499C>T	6.37:g.40360553G>A	ENSP00000345985:p.Thr500Met						p.T500M	NM_020737.1	NP_065788.1	Q9ULH4	LRFN2_HUMAN			3	2041	-	Ovarian(28;0.0418)|Colorectal(47;0.196)		500			Fibronectin type-III.		A5PKU3|Q5SYP9	Missense_Mutation	SNP	ENST00000338305.6	37	c.1499C>T	CCDS34443.1	.	.	.	.	.	.	.	.	.	.	g	20.0	3.930706	0.73327	.	.	ENSG00000156564	ENST00000338305	T	0.60672	0.17	5.51	5.51	0.81932	Fibronectin, type III (3);	0.000000	0.85682	D	0.000000	T	0.75280	0.3828	M	0.82716	2.605	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.78954	-0.2000	10	0.87932	D	0	.	17.9744	0.89122	0.0:0.0:1.0:0.0	.	500	Q9ULH4	LRFN2_HUMAN	M	500	ENSP00000345985:T500M	ENSP00000345985:T500M	T	-	2	0	LRFN2	40468531	1.000000	0.71417	0.955000	0.39395	0.704000	0.40688	9.819000	0.99357	2.584000	0.87258	0.651000	0.88453	ACG		0.602	LRFN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040488.1	XM_166372		11	25	0	0	0	1	0	11	25					A	40360553	G	A	40360553	3	1	262	1	0	0	0	0	1	0	0	0	8938	1145	40	1	874	1	LRFN2	6	40360553	Missense_Mutation	SNP	G	TCGA-J4-8198-01A-11D-2260-08		40360553	130754514	14	12309											
LAMA4	3910	broad.mit.edu	37	chr6	112480078	112480078	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tttctgcataaatccctgacGcattctaaagaaaaaaattt	16	13	4	8	1	2	2	0	1	2	1	3	2	3	2	1	0	1	2	1	0	7	5	rs137893207		TCGA-J4-8198-01A-11D-2260-08	TCGA-J4-8198-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d289d-fcb7-456e-833f-11f3b2d5a361	5050d3e5-3b45-4d06-b454-7ccd753837dc	g.chr6:112480078G>A	ENST00000230538.7	-	14	2070	c.1673C>T	c.(1672-1674)gCg>gTg	p.A558V	LAMA4_ENST00000522006.1_Missense_Mutation_p.A551V|RP1-142L7.5_ENST00000585373.1_RNA|LAMA4_ENST00000389463.4_Missense_Mutation_p.A551V|LAMA4_ENST00000424408.2_Missense_Mutation_p.A551V|RP1-142L7.5_ENST00000425503.1_RNA	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN	laminin, alpha 4	558	Domain II and I.				blood vessel development (GO:0001568)|brown fat cell differentiation (GO:0050873)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)	extracellular matrix structural constituent (GO:0005201)	p.A551V(2)		NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		AATCCCTGACGCATTCTAAAG	0.303													G|||	1	0.000199681	8e-04	0	5008	,	,		16725	0		0	False		,,,				2504	0					ENST00000230538.7																			2	Substitution - Missense(2)	p.A551V(2)	large_intestine(2)	NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100						c.(1672-1674)gCg>gTg		laminin, alpha 4		G	VAL/ALA,VAL/ALA,VAL/ALA	0,4404		0,0,2202	95	86	89		1673,1652,1652	5.7	1	6	dbSNP_134	89	2,8598	2.2+/-6.3	0,2,4298	yes	missense,missense,missense	LAMA4	NM_001105206.1,NM_001105207.1,NM_002290.3	64,64,64	0,2,6500	AA,AG,GG		0.0233,0.0,0.0154	benign,benign,benign	558/1824,551/1817,551/1817	112480078	2,13002	2202	4300	6502	SO:0001583	missense	3910				cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	extracellular matrix structural constituent|receptor binding	g.chr6:112480078G>A		CCDS34514.1, CCDS43491.1, CCDS43492.1	6q21	2014-09-17			ENSG00000112769	ENSG00000112769		"Laminins"	6484	protein-coding gene	gene with protein product		600133				7959779	Standard	NM_001105206		Approved	LAMA3	uc003pvu.3	Q16363	OTTHUMG00000015386	ENST00000230538.7:c.1673C>T	6.37:g.112480078G>A	ENSP00000230538:p.Ala558Val					LAMA4_ENST00000424408.2_Missense_Mutation_p.A551V|LAMA4_ENST00000522006.1_Missense_Mutation_p.A551V|LAMA4_ENST00000389463.4_Missense_Mutation_p.A551V|RP1-142L7.5_ENST00000585373.1_RNA	p.A558V	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)	14	2070	-		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)	558			Domain II and I.		Q14731|Q14735|Q15335|Q4LE44|Q5SZG8|Q9BTB8|Q9UE18|Q9UJN9	Missense_Mutation	SNP	ENST00000230538.7	37	c.1673C>T	CCDS43491.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	7.996	0.754395	0.15778	0.0	2.33E-4	ENSG00000112769	ENST00000230538;ENST00000522006;ENST00000389463;ENST00000424408	T;T;T;T	0.12672	2.68;2.66;2.66;2.66	5.68	5.68	0.88126	.	0.251709	0.39210	N	0.001423	T	0.02610	0.0079	N	0.12182	0.205	0.80722	D	1	B;B	0.27971	0.123;0.196	B;B	0.19148	0.008;0.024	T	0.17653	-1.0362	10	0.05959	T	0.93	.	16.695	0.85333	0.0:0.0:1.0:0.0	.	558;551	Q16363;Q16363-2	LAMA4_HUMAN;.	V	558;551;551;551	ENSP00000230538:A558V;ENSP00000429488:A551V;ENSP00000374114:A551V;ENSP00000416470:A551V	ENSP00000230538:A558V	A	-	2	0	LAMA4	112586771	1.000000	0.71417	1.000000	0.80357	0.811000	0.45836	2.197000	0.42696	2.668000	0.90789	0.591000	0.81541	GCG		0.303	LAMA4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041876.2	NM_001105206		6	21	0	0	0	1	0	6	21					A	112480078	G	A	112480078	3	1	262	1	0	0	0	0	1	0	0	0	8608	1087	38	1	3902	1	LAMA4	6	112480078	Missense_Mutation	SNP	G	TCGA-J4-8198-01A-11D-2260-08	72119525	112480078	58634989	15	12310											
PAXIP1	22976	broad.mit.edu	37	chr7	154782739	154782740	+	Frame_Shift_Ins	INS	-	-	A																															gaaaggcaggcagtgattccINSaaaaaaaatctgacatgatt																										TCGA-J4-8198-01A-11D-2260-08	TCGA-J4-8198-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d289d-fcb7-456e-833f-11f3b2d5a361	5050d3e5-3b45-4d06-b454-7ccd753837dc	g.chr7:154782739_154782740insA	ENST00000404141.1	-	4	454_455	c.300_301insT	c.(298-303)tttggafs	p.G101fs	PAXIP1_ENST00000473219.1_5'UTR|PAXIP1_ENST00000397192.1_Frame_Shift_Ins_p.G101fs			Q6ZW49	PAXI1_HUMAN	PAX interacting (with transcription-activation domain) protein 1	101	BRCT 2. {ECO:0000255|PROSITE- ProRule:PRU00033}.|Interaction with PAGR1. {ECO:0000250}.				adipose tissue development (GO:0060612)|chorion development (GO:0060717)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|endothelial cell migration (GO:0043542)|histone H3-K4 methylation (GO:0051568)|positive regulation of histone acetylation (GO:0035066)|positive regulation of histone H3-K36 methylation (GO:0000416)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of isotype switching (GO:0045830)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)|response to ionizing radiation (GO:0010212)|transcription, DNA-templated (GO:0006351)|vasculogenesis (GO:0001570)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)				NS(1)|breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	33	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.0296)	UCEC - Uterine corpus endometrioid carcinoma (81;0.178)		GCAGTGATTCCAAAAAAAATCT	0.332																																						ENST00000404141.1																			0				NS(1)|breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	33						c.(298-303)ttgaatfs		PAX interacting (with transcription-activation domain) protein 1																																				SO:0001589	frameshift_variant	22976				DNA damage response, signal transduction by p53 class mediator|DNA recombination|DNA repair|histone H3-K4 methylation|positive regulation of histone acetylation|positive regulation of histone H3-K36 methylation|positive regulation of histone H3-K4 methylation|positive regulation of isotype switching|positive regulation of protein ubiquitination|positive regulation of transcription initiation from RNA polymerase II promoter|response to ionizing radiation|transcription, DNA-dependent	histone methyltransferase complex|nuclear matrix		g.chr7:154782739_154782740insA	U80735	CCDS47753.1	7q36	2007-07-06	2005-04-05	2005-04-05	ENSG00000157212	ENSG00000157212			8624	protein-coding gene	gene with protein product		608254	"PAX transcription activation domain interacting protein 1 like"	PAXIP1L		9225980	Standard	XM_005249539		Approved	CAGF29, CAGF28, TNRC2, PTIP	uc022aqf.1	Q6ZW49	OTTHUMG00000151322	ENST00000404141.1:c.301dupT	7.37:g.154782747_154782747dupA	ENSP00000384048:p.Gly101fs					PAXIP1_ENST00000397192.1_Frame_Shift_Ins_p.LN100fs|PAXIP1_ENST00000473219.1_5'UTR	p.LN100fs			Q6ZW49	PAXI1_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0296)	UCEC - Uterine corpus endometrioid carcinoma (81;0.178)	4	454_455	-	all_neural(206;0.119)	all_hematologic(28;0.0592)	100			BRCT 2.|Interaction with PA1 (By similarity).		O15404|Q6N099|Q6ZWH9|Q7Z315|Q86UN0|Q8N4P9|Q96HP2	Frame_Shift_Ins	INS	ENST00000404141.1	37	c.300_301insT	CCDS47753.1																																																																																				0.332	PAXIP1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322223.1	NM_007349		3	6						3	6	---	---	---	---	A	154782740	-	A	154782739	7	5	262	1	0	1	1	0	0	0	0	0	11487	603	21	0	2980	0	PAXIP1	7	154782739	Frame_Shift_Ins	INS	-	TCGA-J4-8198-01A-11D-2260-08		154782739	4355924	16	12311											
SH2D4A	63898	broad.mit.edu	37	chr8	19218826	19218826	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcggaatggcaggcatctcGtgagtacccagaggtctcca	9	8	12	12	2	2	2	0	1	2	1	5	3	2	3	2	4	1	3	2	4	2	1	rs145746072	byFrequency	TCGA-J4-8198-01A-11D-2260-08	TCGA-J4-8198-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d289d-fcb7-456e-833f-11f3b2d5a361	5050d3e5-3b45-4d06-b454-7ccd753837dc	g.chr8:19218826G>A	ENST00000265807.3	+	6	1117		c.e6+1		SH2D4A_ENST00000518040.1_Splice_Site|SH2D4A_ENST00000519207.1_Splice_Site	NM_001174160.1|NM_022071.3	NP_001167631.1|NP_071354.2	Q9H788	SH24A_HUMAN	SH2 domain containing 4A						negative regulation of phosphatase activity (GO:0010923)	cytoplasm (GO:0005737)	phosphatase binding (GO:0019902)			endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|stomach(1)	16				Colorectal(111;0.0732)		CAGGCATCTCGTGAGTACCCA	0.418																																						ENST00000265807.3																			0				endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|stomach(1)	16						c.e6+1		SH2 domain containing 4A		G	,,	2,4404	4.2+/-10.8	0,2,2201	59	58	58		,,	5.3	1	8	dbSNP_134	58	19,8581	14.0+/-48.4	0,19,4281	yes	splice-5,splice-5,splice-5	SH2D4A	NM_001174159.1,NM_001174160.1,NM_022071.3	,,	0,21,6482	AA,AG,GG		0.2209,0.0454,0.1615	,,	,,	19218826	21,12985	2203	4300	6503	SO:0001630	splice_region_variant	63898					cytoplasm|nucleus	protein binding	g.chr8:19218826G>A	AY190323	CCDS6009.1, CCDS55206.1	8p21	2013-02-14			ENSG00000104611	ENSG00000104611		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "SH2 domain containing"	26102	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 38"	614968					Standard	NM_022071		Approved	FLJ20967, SH2A, PPP1R38	uc003wzc.3	Q9H788	OTTHUMG00000097005	ENST00000265807.3:c.706+1G>A	8.37:g.19218826G>A						SH2D4A_ENST00000518040.1_Splice_Site|SH2D4A_ENST00000519207.1_Splice_Site		NM_001174160.1|NM_022071.3	NP_001167631.1|NP_071354.2	Q9H788	SH24A_HUMAN		Colorectal(111;0.0732)	6	1117	+								B4DDR1|Q5XKC1|Q6NXE9|Q86YM2|Q96C88|Q9H7F7	Splice_Site	SNP	ENST00000265807.3	37		CCDS6009.1	.	.	.	.	.	.	.	.	.	.	G	12.01	1.809229	0.31961	4.54E-4	0.002209	ENSG00000104611	ENST00000265807;ENST00000518040;ENST00000519207	.	.	.	5.34	5.34	0.76211	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.5321	0.67934	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SH2D4A	19263106	0.999000	0.42202	0.992000	0.48379	0.267000	0.26476	4.449000	0.60034	2.501000	0.84356	0.655000	0.94253	.		0.418	SH2D4A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214094.1	NM_022071	Intron	4	11	0	0	0	1	0	4	11					A	19218826	G	A	19218826	5	1	262	1	0	0	0	0	0	0	1	0	14235	1159	40	1	775	1	SH2D4A	8	19218826	Splice_Site	SNP	G	TCGA-J4-8198-01A-11D-2260-08		19218826	127145196	17	12312											
GTF2E2	2961	broad.mit.edu	37	chr8	30437879	30437879	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	attttctcctcgtccatggaAtctacagtgacactcctcca	9	13	5	14	1	2	1	0	1	2	0	7	2	5	2	4	1	1	0	4	1	2	3			TCGA-J4-8198-01A-11D-2260-08	TCGA-J4-8198-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d289d-fcb7-456e-833f-11f3b2d5a361	5050d3e5-3b45-4d06-b454-7ccd753837dc	g.chr8:30437879A>C	ENST00000355904.4	-	7	960	c.678T>G	c.(676-678)gaT>gaG	p.D226E		NM_002095.4	NP_002086.1	P29084	T2EB_HUMAN	general transcription factor IIE, polypeptide 2, beta 34kDa	226					gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIIE complex (GO:0005673)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12				KIRC - Kidney renal clear cell carcinoma(542;0.113)|Kidney(114;0.135)		CGTCCATGGAATCTACAGTGA	0.373																																						ENST00000355904.4																			0				endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						c.(676-678)gaT>gaG		general transcription factor IIE, polypeptide 2, beta 34kDa							139	127	131					8																	30437879		2203	4300	6503	SO:0001583	missense	2961				regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	transcription factor TFIIE complex	DNA binding|protein binding	g.chr8:30437879A>C	BC030572	CCDS6078.1	8p12	2010-03-23	2002-08-29		ENSG00000197265	ENSG00000197265		"General transcription factors"	4651	protein-coding gene	gene with protein product		189964	"general transcription factor IIE, polypeptide 2 (beta subunit, 34kD)"			1956404	Standard	NM_002095		Approved	TFIIE-B, FE, TF2E2	uc003xig.3	P29084	OTTHUMG00000163934	ENST00000355904.4:c.678T>G	8.37:g.30437879A>C	ENSP00000348168:p.Asp226Glu						p.D226E	NM_002095.4	NP_002086.1	P29084	T2EB_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.113)|Kidney(114;0.135)	7	960	-			226					D3DSV2|Q9H2B9	Missense_Mutation	SNP	ENST00000355904.4	37	c.678T>G	CCDS6078.1	.	.	.	.	.	.	.	.	.	.	A	12.13	1.847039	0.32606	.	.	ENSG00000197265	ENST00000355904	T	0.34667	1.35	5.74	2.05	0.26809	.	0.088679	0.85682	D	0.000000	T	0.25754	0.0627	L	0.43152	1.355	0.58432	D	0.999996	B	0.22080	0.064	B	0.24541	0.054	T	0.05370	-1.0889	10	0.27785	T	0.31	-11.4784	5.6309	0.17510	0.7005:0.145:0.1546:0.0	.	226	P29084	T2EB_HUMAN	E	226	ENSP00000348168:D226E	ENSP00000348168:D226E	D	-	3	2	GTF2E2	30557421	1.000000	0.71417	0.997000	0.53966	0.484000	0.33280	2.084000	0.41625	0.109000	0.17891	-0.316000	0.08728	GAT		0.373	GTF2E2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376459.2	NM_002095		28	59	0	0	0	1	0	28	59					C	30437879	A	C	30437879	3	2	262	1	0	0	0	0	1	0	0	0	6857	98	4	5	205	5	GTF2E2	8	30437879	Missense_Mutation	SNP	A	TCGA-J4-8198-01A-11D-2260-08	11219053	30437879	115926143	18	12313											
MTDH	92140	broad.mit.edu	37	chr8	98657100	98657100	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagaagaaccggaagaaactGtccgagaagcccaaagtgag	18	3	12	8	2	0	5	0	1	0	4	1	7	1	6	3	1	3	0	3	1	7	0			TCGA-J4-8198-01A-11D-2260-08	TCGA-J4-8198-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d289d-fcb7-456e-833f-11f3b2d5a361	5050d3e5-3b45-4d06-b454-7ccd753837dc	g.chr8:98657100G>A	ENST00000336273.3	+	1	694	c.366G>A	c.(364-366)ctG>ctA	p.L122L	MTDH_ENST00000519934.1_Silent_p.L99L	NM_178812.3	NP_848927.2	Q86UE4	LYRIC_HUMAN	metadherin	122	Interaction with BCCIP.|Interaction with RELA.				lipopolysaccharide-mediated signaling pathway (GO:0031663)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of angiogenesis (GO:0045766)|positive regulation of autophagy (GO:0010508)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein kinase B signaling (GO:0051897)|tight junction assembly (GO:0070830)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intercellular canaliculus (GO:0046581)|nuclear body (GO:0016604)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|tight junction (GO:0005923)	double-stranded RNA binding (GO:0003725)|NF-kappaB binding (GO:0051059)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription factor binding (GO:0001085)|transcription coactivator activity (GO:0003713)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(5)|liver(1)|lung(8)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	Breast(36;2.56e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.178)			GGAAGAAACTGTCCGAGAAGC	0.672																																						ENST00000336273.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(5)|liver(1)|lung(8)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32						c.(364-366)ctG>ctA		metadherin							13	15	15					8																	98657100		1864	3765	5629	SO:0001819	synonymous_variant	92140				lipopolysaccharide-mediated signaling pathway|negative regulation of apoptosis|negative regulation of transcription from RNA polymerase II promoter|positive regulation of angiogenesis|positive regulation of autophagy|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of protein kinase B signaling cascade	apical plasma membrane|endoplasmic reticulum membrane|integral to membrane|intercellular canaliculus|nuclear body|nuclear membrane|nucleolus|perinuclear region of cytoplasm|tight junction	NF-kappaB binding|RNA polymerase II transcription factor binding|transcription coactivator activity	g.chr8:98657100G>A	AF411226	CCDS6274.1	8q22.1	2014-07-14			ENSG00000147649	ENSG00000147649			29608	protein-coding gene	gene with protein product	"astrocyte elevated gene 1"	610323				15093543	Standard	NM_178812		Approved	LYRIC, 3D3, AEG-1	uc003yhz.3	Q86UE4	OTTHUMG00000164692	ENST00000336273.3:c.366G>A	8.37:g.98657100G>A						MTDH_ENST00000519934.1_Silent_p.L99L	p.L122L	NM_178812.3	NP_848927.2	Q86UE4	LYRIC_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.178)		1	694	+	Breast(36;2.56e-06)		122			Interaction with BCCIP.|Interaction with RELA.		Q05DH2|Q52QU9|Q6PK07|Q8TCX3	Silent	SNP	ENST00000336273.3	37	c.366G>A	CCDS6274.1	.	.	.	.	.	.	.	.	.	.	G	9.251	1.040768	0.19669	.	.	ENSG00000147649	ENST00000522313	.	.	.	5.19	-5.58	0.02512	.	.	.	.	.	T	0.20251	0.0487	.	.	.	0.09310	N	0.999996	.	.	.	.	.	.	T	0.32295	-0.9912	4	.	.	.	9.1422	4.9844	0.14182	0.0631:0.2786:0.2848:0.3736	.	.	.	.	Y	27	.	.	C	+	2	0	MTDH	98726276	0.000000	0.05858	0.002000	0.10522	0.922000	0.55478	-0.272000	0.08560	-0.696000	0.05098	0.591000	0.81541	TGT		0.672	MTDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379772.2			3	8	0	0	0	1	0	3	8					A	98657100	G	A	98657100	2	1	262	1	0	0	0	0	0	0	0	1	9917	1364	48	3		3	MTDH	8	98657100	Silent	SNP	G	TCGA-J4-8198-01A-11D-2260-08	68219221	98657100	47706922	19	12314											
PKD2L1	9033	broad.mit.edu	37	chr10	102052799	102052799	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaccctctccttcctcagacGcagtcttagtagggtcttgt	7	13	8	13	1	4	1	1	0	3	1	6	1	5	1	3	1	1	2	3	1	3	4	rs147248969	byFrequency	TCGA-J4-8198-01A-11D-2260-08	TCGA-J4-8198-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d289d-fcb7-456e-833f-11f3b2d5a361	5050d3e5-3b45-4d06-b454-7ccd753837dc	g.chr10:102052799G>A	ENST00000318222.3	-	11	2168	c.1786C>T	c.(1786-1788)Cgt>Tgt	p.R596C	PKD2L1_ENST00000338519.3_Missense_Mutation_p.R521C|PKD2L1_ENST00000353274.3_Missense_Mutation_p.R596C	NM_001253837.1|NM_016112.2	NP_001240766.1|NP_057196.2	Q9P0L9	PK2L1_HUMAN	polycystic kidney disease 2-like 1	596					cation transport (GO:0006812)|cellular response to acidic pH (GO:0071468)|detection of chemical stimulus involved in sensory perception of sour taste (GO:0001581)|detection of mechanical stimulus (GO:0050982)|potassium ion transmembrane transport (GO:0071805)|protein homotrimerization (GO:0070207)|sensory perception of sour taste (GO:0050915)|smoothened signaling pathway (GO:0007224)|sodium ion transmembrane transport (GO:0035725)	calcium channel complex (GO:0034704)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nonmotile primary cilium (GO:0031513)|plasma membrane (GO:0005886)	alpha-actinin binding (GO:0051393)|calcium activated cation channel activity (GO:0005227)|calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-activated potassium channel activity (GO:0015269)|cation channel activity (GO:0005261)|cytoskeletal protein binding (GO:0008092)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|sodium channel activity (GO:0005272)|sour taste receptor activity (GO:0033040)			NS(2)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	43		Colorectal(252;0.117)		Epithelial(162;6.15e-10)|all cancers(201;5.14e-08)		TTCCTCAGACGCAGTCTTAGT	0.547													G|||	2	0.000399361	0	0.0014	5008	,	,		20027	0		0.001	False		,,,				2504	0					ENST00000318222.3																			0				NS(2)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	43						c.(1786-1788)Cgt>Tgt		polycystic kidney disease 2-like 1		G	CYS/ARG	0,4406		0,0,2203	125	104	111		1786	5.2	0.8	10	dbSNP_134	111	6,8594	5.0+/-18.6	0,6,4294	yes	missense	PKD2L1	NM_016112.2	180	0,6,6497	AA,AG,GG		0.0698,0.0,0.0461	probably-damaging	596/806	102052799	6,13000	2203	4300	6503	SO:0001583	missense	9033				signal transduction	integral to membrane	calcium activated cation channel activity|calcium ion binding|cytoskeletal protein binding	g.chr10:102052799G>A	AF094827	CCDS7492.1	10q24.31	2011-12-16			ENSG00000107593	ENSG00000107593		"Voltage-gated ion channels / Transient receptor potential cation channels"	9011	protein-coding gene	gene with protein product	"transient receptor potential cation channel, subfamily P, member 3"	604532		PKD2L, PKDL		9878261, 9748274	Standard	NM_016112		Approved	PCL, TRPP3	uc001kqx.1	Q9P0L9	OTTHUMG00000018910	ENST00000318222.3:c.1786C>T	10.37:g.102052799G>A	ENSP00000325296:p.Arg596Cys					PKD2L1_ENST00000338519.3_Missense_Mutation_p.R521C|PKD2L1_ENST00000353274.3_Missense_Mutation_p.R596C	p.R596C	NM_001253837.1|NM_016112.2	NP_001240766.1|NP_057196.2	Q9P0L9	PK2L1_HUMAN		Epithelial(162;6.15e-10)|all cancers(201;5.14e-08)	11	2168	-		Colorectal(252;0.117)	596					O75972|Q5W039|Q9UP35|Q9UPA2	Missense_Mutation	SNP	ENST00000318222.3	37	c.1786C>T	CCDS7492.1	2	9.157509157509158E-4	0	0.0	1	0.0027624309392265192	0	0.0	1	0.0013192612137203166	G	15.89	2.967344	0.53507	0.0	6.98E-4	ENSG00000107593	ENST00000338519;ENST00000353274;ENST00000318222;ENST00000339977	T;T;T	0.61859	0.26;0.07;0.13	6.07	5.17	0.71159	.	0.360746	0.31976	N	0.006777	T	0.57548	0.2061	L	0.59436	1.845	0.45025	D	0.998046	D;D	0.71674	0.998;0.995	P;P	0.48677	0.517;0.586	T	0.60777	-0.7196	10	0.52906	T	0.07	-1.3826	7.9821	0.30190	0.0766:0.0:0.6774:0.246	.	549;596	Q1L4F0;Q9P0L9	.;PK2L1_HUMAN	C	521;596;596;594	ENSP00000345068:R521C;ENSP00000266049:R596C;ENSP00000325296:R596C	ENSP00000325296:R596C	R	-	1	0	PKD2L1	102042789	1.000000	0.71417	0.816000	0.32577	0.157000	0.22087	4.988000	0.63863	1.581000	0.49865	0.655000	0.94253	CGT		0.547	PKD2L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049863.2	NM_016112		16	54	0	0	0	1	0	16	54					A	102052799	G	A	102052799	3	1	262	1	0	0	0	0	1	0	0	0	11967	1087	38	1	655	1	PKD2L1	10	102052799	Missense_Mutation	SNP	G	TCGA-J4-8198-01A-11D-2260-08		102052799	33481948	20	12315											
RAG1	5896	broad.mit.edu	37	chr11	36597064	36597064	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tactctttgtgatgccacccGtctggaagcctctcaaaatc	9	12	7	13	1	3	1	1	1	3	0	5	2	3	2	3	1	3	0	3	1	4	2	rs104894286		TCGA-J4-8198-01A-11D-2260-08	TCGA-J4-8198-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d289d-fcb7-456e-833f-11f3b2d5a361	5050d3e5-3b45-4d06-b454-7ccd753837dc	g.chr11:36597064G>A	ENST00000299440.5	+	2	2322	c.2210G>A	c.(2209-2211)cGt>cAt	p.R737H		NM_000448.2	NP_000439	P15918	RAG1_HUMAN	recombination activating gene 1	737			R -> H (in OS and CHIDG; reduced recombination activity when associated with T-507; dbSNP:rs104894286). {ECO:0000269|PubMed:18463379, ECO:0000269|PubMed:9630231}.		adaptive immune response (GO:0002250)|B cell differentiation (GO:0030183)|DNA recombination (GO:0006310)|histone monoubiquitination (GO:0010390)|immune response (GO:0006955)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of thymocyte apoptotic process (GO:0070244)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|pre-B cell allelic exclusion (GO:0002331)|protein autoubiquitination (GO:0051865)|regulation of T cell differentiation (GO:0045580)|T cell differentiation in thymus (GO:0033077)|T cell homeostasis (GO:0043029)|thymus development (GO:0048538)|V(D)J recombination (GO:0033151)	nucleus (GO:0005634)	acid-amino acid ligase activity (GO:0016881)|DNA binding (GO:0003677)|endonuclease activity (GO:0004519)|histone binding (GO:0042393)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding (GO:0043565)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	65	all_lung(20;0.226)	all_hematologic(20;0.107)				GATGCCACCCGTCTGGAAGCC	0.502									Familial Hemophagocytic Lymphohistiocytosis				G|||	1	0.000199681	8e-04	0	5008	,	,		18590	0		0	False		,,,				2504	0				Pancreas(43;321 1249 3212 48200)|Esophageal Squamous(38;49 1003 17530 24363)	ENST00000299440.5																			0				NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	65	GRCh37	CM981696	RAG1	M	rs104894286	c.(2209-2211)cGt>cAt		recombination activating gene 1		G	HIS/ARG	0,4404		0,0,2202	83	80	81	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	2210	6.1	1	11	dbSNP_132	81	1,8595	1.2+/-3.3	0,1,4297	no	missense	RAG1	NM_000448.2	29	0,1,6499	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	737/1044	36597064	1,12999	2202	4298	6500	SO:0001583	missense	5896	Familial Hemophagocytic Lymphohistiocytosis	Familial Cancer Database	FHLH, FHL, Familial Hemophagocytic Reticulosis, FHR	histone monoubiquitination|immune response|pre-B cell allelic exclusion|protein autoubiquitination|T cell differentiation in thymus|V(D)J recombination	nucleus	endonuclease activity|histone binding|protein homodimerization activity|sequence-specific DNA binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr11:36597064G>A	M29474	CCDS7902.1	11p13	2014-09-17				ENSG00000166349		"RING-type (C3HC4) zinc fingers"	9831	protein-coding gene	gene with protein product	"recombination activating protein 1", "RING finger protein 74", "V(D)J recombination-activating protein 1"	179615				1612612, 1283330	Standard	NM_000448		Approved	RNF74, MGC43321	uc001mwu.4	P15918		ENST00000299440.5:c.2210G>A	11.37:g.36597064G>A	ENSP00000299440:p.Arg737His						p.R737H	NM_000448.2	NP_000439.1	P15918	RAG1_HUMAN			2	2322	+	all_lung(20;0.226)	all_hematologic(20;0.107)	737		R -> H (in OS and CHIDG; reduced recombination activity when associated with T-507).			E9PPC4|Q8IY72|Q8NER2	Missense_Mutation	SNP	ENST00000299440.5	37	c.2210G>A	CCDS7902.1	.	.	.	.	.	.	.	.	.	.	G	24.5	4.542171	0.85917	0.0	1.16E-4	ENSG00000166349	ENST00000534663;ENST00000299440	D;D	0.88664	-2.41;-2.41	6.13	6.13	0.99165	Zinc finger, C2H2-like (1);	0.000000	0.85682	D	0.000000	D	0.96772	0.8946	H	0.96365	3.81	0.80722	A	1	D	0.89917	1.0	D	0.85130	0.997	D	0.96968	0.9706	9	0.87932	D	0	.	20.8401	0.99726	0.0:0.0:1.0:0.0	.	737	P15918	RAG1_HUMAN	H	737	ENSP00000434610:R737H;ENSP00000299440:R737H	ENSP00000299440:R737H	R	+	2	0	RAG1	36553640	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	9.476000	0.97823	2.932000	0.99384	0.644000	0.83932	CGT		0.502	RAG1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389535.1	NM_000448		15	31	0	0	0	1	0	15	31					A	36597064	G	A	36597064	3	1	262	1	0	0	0	0	1	0	0	0	13003	1145	40	1	2212	1	RAG1	11	36597064	Missense_Mutation	SNP	G	TCGA-J4-8198-01A-11D-2260-08		36597064	98409452	21	12316											
POLD3	10714	broad.mit.edu	37	chr11	74303721	74303721	+	Nonsense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accatggcggaccagctttaTctggaaaatatagacgagtt	13	10	10	8	2	1	1	0	0	1	1	1	4	1	3	2	3	1	2	2	3	5	5			TCGA-J4-8198-01A-11D-2260-08	TCGA-J4-8198-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d289d-fcb7-456e-833f-11f3b2d5a361	5050d3e5-3b45-4d06-b454-7ccd753837dc	g.chr11:74303721T>G	ENST00000263681.2	+	1	147	c.18T>G	c.(16-18)taT>taG	p.Y6*	POLD3_ENST00000532784.1_3'UTR|POLD3_ENST00000527458.1_De_novo_Start_InFrame|POLD3_ENST00000532497.1_De_novo_Start_OutOfFrame	NM_006591.2	NP_006582.1	Q15054	DPOD3_HUMAN	polymerase (DNA-directed), delta 3, accessory subunit	6					base-excision repair (GO:0006284)|DNA repair (GO:0006281)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA synthesis involved in DNA repair (GO:0000731)|mismatch repair (GO:0006298)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	delta DNA polymerase complex (GO:0043625)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA-directed DNA polymerase activity (GO:0003887)			breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|stomach(1)	18	Breast(11;3.21e-06)					ACCAGCTTTATCTGGAAAATA	0.622																																						ENST00000263681.2																			0				breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|stomach(1)	18						c.(16-18)taT>taG		polymerase (DNA-directed), delta 3, accessory subunit							30	30	30					11																	74303721		2200	4293	6493	SO:0001587	stop_gained	10714				base-excision repair|DNA strand elongation involved in DNA replication|DNA synthesis involved in DNA repair|mismatch repair|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	delta DNA polymerase complex|nucleoplasm	DNA-directed DNA polymerase activity|protein binding	g.chr11:74303721T>G	D26018	CCDS8233.1	11q14	2014-06-13			ENSG00000077514	ENSG00000077514		"DNA polymerases"	20932	protein-coding gene	gene with protein product	"DNA polymerase delta subunit p66", "Pol delta C subunit (p66)", "protein phosphatase 1, regulatory subunit 128"	611415				10219083	Standard	NM_006591		Approved	P66, KIAA0039, P68, PPP1R128	uc001ovf.2	Q15054	OTTHUMG00000165621	ENST00000263681.2:c.18T>G	11.37:g.74303721T>G	ENSP00000263681:p.Tyr6*					POLD3_ENST00000532497.1_De_novo_Start_OutOfFrame|POLD3_ENST00000527458.1_De_novo_Start_InFrame|POLD3_ENST00000532784.1_3'UTR	p.Y6*	NM_006591.2	NP_006582.1	Q15054	DPOD3_HUMAN			1	147	+	Breast(11;3.21e-06)		6					B7ZAI6|Q32MZ9|Q32N00	Nonsense_Mutation	SNP	ENST00000263681.2	37	c.18T>G	CCDS8233.1	.	.	.	.	.	.	.	.	.	.	T	37	6.436986	0.97568	.	.	ENSG00000077514	ENST00000263681;ENST00000538052	.	.	.	4.95	1.15	0.20763	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-21.1631	6.1859	0.20498	0.0:0.3796:0.0:0.6204	.	.	.	.	X	6	.	ENSP00000263681:Y6X	Y	+	3	2	POLD3	73981369	0.998000	0.40836	0.998000	0.56505	0.963000	0.63663	0.181000	0.16880	0.365000	0.24400	0.533000	0.62120	TAT		0.622	POLD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385376.1	NM_006591		9	11	0	0	0	1	0	9	11					G	74303721	T	G	74303721	4	3	262	1	0	0	0	0	0	1	0	0	12192	1442	50	5	20	5	POLD3	11	74303721	Nonsense_Mutation	SNP	T	TCGA-J4-8198-01A-11D-2260-08	37706657	74303721	60702795	22	12317											
BIRC2	329	broad.mit.edu	37	chr11	102248361	102248361	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atattattaaacaaaaaacaCagatacctttacaagcgaga	21	9	4	7	1	0	2	0	0	0	2	0	3	0	2	1	0	5	0	1	0	10	6			TCGA-J4-8198-01A-11D-2260-08	TCGA-J4-8198-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d289d-fcb7-456e-833f-11f3b2d5a361	5050d3e5-3b45-4d06-b454-7ccd753837dc	g.chr11:102248361C>G	ENST00000227758.2	+	7	2900	c.1501C>G	c.(1501-1503)Cag>Gag	p.Q501E	BIRC2_ENST00000527910.1_3'UTR|BIRC2_ENST00000532672.1_Missense_Mutation_p.Q480E|BIRC2_ENST00000530675.1_Missense_Mutation_p.Q452E	NM_001166.4|NM_001256163.1	NP_001157.1|NP_001243092.1	Q13490	BIRC2_HUMAN	baculoviral IAP repeat containing 2	501	CARD. {ECO:0000255|PROSITE- ProRule:PRU00046}.				apoptotic process (GO:0006915)|cell surface receptor signaling pathway (GO:0007166)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|innate immune response (GO:0045087)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|NIK/NF-kappaB signaling (GO:0038061)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of protein K48-linked ubiquitination (GO:1902524)|positive regulation of protein K63-linked ubiquitination (GO:1902523)|positive regulation of protein monoubiquitination (GO:1902527)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cell cycle (GO:0051726)|regulation of cell differentiation (GO:0045595)|regulation of cell proliferation (GO:0042127)|regulation of cysteine-type endopeptidase activity (GO:2000116)|regulation of inflammatory response (GO:0050727)|regulation of innate immune response (GO:0045088)|regulation of necroptotic process (GO:0060544)|regulation of nucleotide-binding oligomerization domain containing signaling pathway (GO:0070424)|regulation of RIG-I signaling pathway (GO:0039535)|regulation of toll-like receptor signaling pathway (GO:0034121)|regulation of transcription, DNA-templated (GO:0006355)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|transcription, DNA-templated (GO:0006351)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	CD40 receptor complex (GO:0035631)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|nucleus (GO:0005634)	ligase activity (GO:0016874)|protein N-terminus binding (GO:0047485)|transcription coactivator activity (GO:0003713)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|liver(2)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	all_cancers(8;0.00044)|all_epithelial(12;0.00348)|Lung NSC(15;0.227)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0093)	Lung(13;0.109)|Epithelial(9;0.11)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0144)		ACAAAAAACACAGATACCTTT	0.333																																						ENST00000227758.2																			0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|liver(2)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						c.(1501-1503)Cag>Gag		baculoviral IAP repeat containing 2							67	77	74					11																	102248361		2203	4297	6500	SO:0001583	missense	329				cell surface receptor linked signaling pathway|cellular component disassembly involved in apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteasomal ubiquitin-dependent protein catabolic process|protein polyubiquitination	CD40 receptor complex|cytosol|internal side of plasma membrane	protein N-terminus binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr11:102248361C>G	L49431	CCDS8316.1, CCDS58169.1	11q22	2011-01-25	2011-01-25		ENSG00000110330	ENSG00000110330		"Baculoviral IAP repeat containing", "RING-type (C3HC4) zinc fingers"	590	protein-coding gene	gene with protein product	"NFR2-TRAF signalling complex protein", "apoptosis inhibitor 1"	601712	"baculoviral IAP repeat-containing 2"	API1		8552191, 8548810	Standard	NM_001166		Approved	cIAP1, hiap-2, MIHB, RNF48, c-IAP1	uc010ruq.3	Q13490	OTTHUMG00000167325	ENST00000227758.2:c.1501C>G	11.37:g.102248361C>G	ENSP00000227758:p.Gln501Glu					BIRC2_ENST00000532672.1_Missense_Mutation_p.Q480E|BIRC2_ENST00000530675.1_Missense_Mutation_p.Q452E|BIRC2_ENST00000527910.1_3'UTR	p.Q501E	NM_001166.4|NM_001256163.1	NP_001157.1|NP_001243092.1	Q13490	BIRC2_HUMAN	Lung(13;0.109)|Epithelial(9;0.11)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0144)	7	2900	+	all_cancers(8;0.00044)|all_epithelial(12;0.00348)|Lung NSC(15;0.227)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0093)	501			CARD.		B4E026|Q16516|Q4TTG0	Missense_Mutation	SNP	ENST00000227758.2	37	c.1501C>G	CCDS8316.1	.	.	.	.	.	.	.	.	.	.	C	17.99	3.523607	0.64747	.	.	ENSG00000110330	ENST00000530675;ENST00000533742;ENST00000227758;ENST00000541741;ENST00000532672;ENST00000531259	T;T;T;T;T	0.20738	2.05;2.05;2.05;2.05;2.05	5.83	5.83	0.93111	DEATH-like (2);Caspase Recruitment (3);	0.106971	0.64402	D	0.000003	T	0.34048	0.0884	M	0.72479	2.2	0.58432	D	0.999996	B	0.27498	0.18	B	0.38500	0.275	T	0.10132	-1.0643	10	0.15952	T	0.53	-22.1291	20.1316	0.98000	0.0:1.0:0.0:0.0	.	501	Q13490	BIRC2_HUMAN	E	452;163;501;501;480;36	ENSP00000431723:Q452E;ENSP00000433851:Q163E;ENSP00000227758:Q501E;ENSP00000434979:Q480E;ENSP00000436741:Q36E	ENSP00000227758:Q501E	Q	+	1	0	BIRC2	101753571	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.931000	0.63469	2.766000	0.95052	0.650000	0.86243	CAG		0.333	BIRC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000394170.1	NM_001166		12	19	0	0	0	1	0	12	19					G	102248361	C	G	102248361	3	3	262	1	0	0	0	0	1	0	0	0	1435	479	17	5	1523	5	BIRC2	11	102248361	Missense_Mutation	SNP	C	TCGA-J4-8198-01A-11D-2260-08	27944640	102248361	32758155	23	12318											
NAV3	89795	broad.mit.edu	37	chr12	78593154	78593155	+	Frame_Shift_Ins	INS	-	-	T																															atacagaaccagtgaaaggcINStttttaggcagatatcttcg																										TCGA-J4-8198-01A-11D-2260-08	TCGA-J4-8198-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d289d-fcb7-456e-833f-11f3b2d5a361	5050d3e5-3b45-4d06-b454-7ccd753837dc	g.chr12:78593154_78593155insT	ENST00000397909.2	+	37	6731_6732	c.6558_6559insT	c.(6559-6561)tttfs	p.F2187fs	NAV3_ENST00000228327.6_Frame_Shift_Ins_p.F2165fs|NAV3_ENST00000541270.1_Frame_Shift_Ins_p.F17fs|NAV3_ENST00000266692.7_Frame_Shift_Ins_p.F1988fs|NAV3_ENST00000536525.2_Frame_Shift_Ins_p.F2165fs			Q8IVL0	NAV3_HUMAN	neuron navigator 3	2187						membrane (GO:0016020)|nuclear envelope (GO:0005635)				NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						CAGTGAAAGGCTTTTTAGGCAG	0.302										HNSCC(70;0.22)																												ENST00000397909.2																			0				NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						c.(6556-6561)ggttttfs		neuron navigator 3																																				SO:0001589	frameshift_variant	89795					nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity	g.chr12:78593154_78593155insT	AB023155	CCDS41815.1, CCDS66432.1	12q14.3	2008-08-05				ENSG00000067798			15998	protein-coding gene	gene with protein product	"pore membrane and/or filament interacting like protein 1", "steerin 3"	611629				12079279, 12062803	Standard	XM_005269215		Approved	KIAA0938, POMFIL1	uc001syo.3	Q8IVL0	OTTHUMG00000170001	ENST00000397909.2:c.6563dupT	12.37:g.78593159_78593159dupT	ENSP00000381007:p.Phe2187fs	HNSCC(70;0.22)				NAV3_ENST00000266692.7_Frame_Shift_Ins_p.GF1987fs|NAV3_ENST00000536525.2_Frame_Shift_Ins_p.GF2164fs|NAV3_ENST00000228327.6_Frame_Shift_Ins_p.GF2164fs|NAV3_ENST00000541270.1_Frame_Shift_Ins_p.GF16fs	p.GF2186fs			Q8IVL0	NAV3_HUMAN			37	6731_6732	+			2186					Q8NFW7|Q9Y2E7	Frame_Shift_Ins	INS	ENST00000397909.2	37	c.6558_6559insT																																																																																					0.302	NAV3-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000406812.1	NM_001024383		8	92						8	92	---	---	---	---	T	78593155	-	T	78593154	7	5	262	1	0	1	1	0	0	0	0	0	10185	784	28	0	6634	0	NAV3	12	78593154	Frame_Shift_Ins	INS	-	TCGA-J4-8198-01A-11D-2260-08		78593154	55258741	24	12319											
BDKRB1	623	broad.mit.edu	37	chr14	96730362	96730362	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcctctgccgtgtcatcaacGgggtcatcaaggccaatttg	8	11	10	12	2	5	0	4	0	1	0	6	0	6	0	3	3	2	0	3	3	3	1			TCGA-J4-8198-01A-11D-2260-08	TCGA-J4-8198-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d289d-fcb7-456e-833f-11f3b2d5a361	5050d3e5-3b45-4d06-b454-7ccd753837dc	g.chr14:96730362G>C	ENST00000216629.6	+	3	949	c.343G>C	c.(343-345)Ggg>Cgg	p.G115R	BDKRB1_ENST00000553356.1_Missense_Mutation_p.G115R|RP11-404P21.3_ENST00000553638.1_RNA	NM_000710.3	NP_000701.2	P46663	BKRB1_HUMAN	bradykinin receptor B1	115					cell migration (GO:0016477)|inflammatory response (GO:0006954)|negative regulation of blood pressure (GO:0045776)|negative regulation of cell growth (GO:0030308)|negative regulation of protein phosphorylation (GO:0001933)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|response to lipopolysaccharide (GO:0032496)|response to mechanical stimulus (GO:0009612)|sensory perception of pain (GO:0019233)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	bradykinin receptor activity (GO:0004947)|peptide binding (GO:0042277)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(7)|ovary(4)|skin(1)|urinary_tract(1)	16		all_cancers(154;0.0677)|Melanoma(154;0.155)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.208)|Epithelial(152;0.226)		TGTCATCAACGGGGTCATCAA	0.572																																						ENST00000216629.6																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(7)|ovary(4)|skin(1)|urinary_tract(1)	16						c.(343-345)Ggg>Cgg		bradykinin receptor B1							81	79	79					14																	96730362		2203	4300	6503	SO:0001583	missense	0				elevation of cytosolic calcium ion concentration	endoplasmic reticulum|integral to plasma membrane	bradykinin receptor activity	g.chr14:96730362G>C	L42383	CCDS9943.1	14q32.1-q32.2	2012-08-08				ENSG00000100739		"GPCR / Class A : Bradykinin receptors"	1029	protein-coding gene	gene with protein product		600337				8808279	Standard	NM_000710		Approved	BKR1, B1BKR, bradyb1	uc001yfh.3	P46663		ENST00000216629.6:c.343G>C	14.37:g.96730362G>C	ENSP00000216629:p.Gly115Arg					RP11-404P21.3_ENST00000553638.1_RNA|BDKRB1_ENST00000553356.1_Missense_Mutation_p.G115R	p.G115R	NM_000710.3	NP_000701.2	P46663	BKRB1_HUMAN		COAD - Colon adenocarcinoma(157;0.208)|Epithelial(152;0.226)	3	949	+		all_cancers(154;0.0677)|Melanoma(154;0.155)|all_epithelial(191;0.179)	115					A8K7F5|Q546S7|Q8N0Y8	Missense_Mutation	SNP	ENST00000216629.6	37	c.343G>C	CCDS9943.1	.	.	.	.	.	.	.	.	.	.	G	12.82	2.052484	0.36181	.	.	ENSG00000100739	ENST00000216629;ENST00000553356	T;T	0.37752	1.18;1.18	5.47	5.47	0.80525	GPCR, rhodopsin-like superfamily (1);	0.397501	0.24808	N	0.035425	T	0.64713	0.2623	M	0.88512	2.96	0.23889	N	0.996558	D;D	0.76494	0.999;0.999	D;D	0.71656	0.956;0.974	T	0.62905	-0.6755	10	0.72032	D	0.01	-22.8159	13.6725	0.62434	0.0765:0.0:0.9235:0.0	.	115;115	G3V4Y2;P46663	.;BKRB1_HUMAN	R	115	ENSP00000216629:G115R;ENSP00000452064:G115R	ENSP00000216629:G115R	G	+	1	0	BDKRB1	95800115	0.000000	0.05858	0.188000	0.23233	0.300000	0.27592	0.338000	0.19858	2.589000	0.87451	0.555000	0.69702	GGG		0.572	BDKRB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413300.1			24	90	0	0	0	1	0	24	90					C	96730362	G	C	96730362	3	2	262	1	0	0	0	0	1	0	0	0	1392	1116	39	5	345	5	BDKRB1	14	96730362	Missense_Mutation	SNP	G	TCGA-J4-8198-01A-11D-2260-08		96730362	10619178	25	12320											
ISLR	3671	broad.mit.edu	37	chr15	74467265	74467265	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gctcaggcctgccctgagccCtgcgactgtggggaaaagta	8	7	14	12	1	1	1	1	1	0	0	1	3	1	2	3	3	3	2	3	3	3	1			TCGA-J4-8198-01A-11D-2260-08	TCGA-J4-8198-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d289d-fcb7-456e-833f-11f3b2d5a361	5050d3e5-3b45-4d06-b454-7ccd753837dc	g.chr15:74467265C>T	ENST00000249842.3	+	2	423	c.66C>T	c.(64-66)ccC>ccT	p.P22P	ISLR_ENST00000395118.1_Silent_p.P22P|RP11-665J16.1_ENST00000561647.1_RNA	NM_005545.3	NP_005536.1	O14498	ISLR_HUMAN	immunoglobulin superfamily containing leucine-rich repeat	22	LRRNT.				cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)				central_nervous_system(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)	20						GCCCTGAGCCCTGCGACTGTG	0.627																																						ENST00000249842.3																			0				central_nervous_system(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)	20						c.(64-66)ccC>ccT		immunoglobulin superfamily containing leucine-rich repeat							49	45	46					15																	74467265		2198	4297	6495	SO:0001819	synonymous_variant	3671				cell adhesion	extracellular region		g.chr15:74467265C>T	AB003184	CCDS10260.1	15q23-q24	2013-01-11			ENSG00000129009	ENSG00000129009		"Immunoglobulin superfamily / I-set domain containing"	6133	protein-coding gene	gene with protein product		602059				9325048	Standard	NM_005545		Approved	HsT17563	uc002axh.1	O14498	OTTHUMG00000137623	ENST00000249842.3:c.66C>T	15.37:g.74467265C>T						ISLR_ENST00000395118.1_Silent_p.P22P|RP11-665J16.1_ENST00000561647.1_RNA	p.P22P	NM_005545.3	NP_005536.1	O14498	ISLR_HUMAN			2	423	+			22			LRRNT.			Silent	SNP	ENST00000249842.3	37	c.66C>T	CCDS10260.1																																																																																				0.627	ISLR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269044.1	NM_005545		13	34	0	0	0	1	0	13	34					T	74467265	C	T	74467265	2	4	262	1	0	0	0	0	0	0	0	1	7858	668	24	3		3	ISLR	15	74467265	Silent	SNP	C	TCGA-J4-8198-01A-11D-2260-08		74467265	28064127	26	12321											
TBC1D24	57465	broad.mit.edu	37	chr16	2550269	2550269	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acactccccttccaccccagCtgcagcctgaggtgcagcgc	7	6	9	19	1	0	1	0	1	0	0	2	1	2	1	6	1	5	3	6	1	0	1			TCGA-J4-8198-01A-11D-2260-08	TCGA-J4-8198-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d289d-fcb7-456e-833f-11f3b2d5a361	5050d3e5-3b45-4d06-b454-7ccd753837dc	g.chr16:2550269C>A	ENST00000293970.5	+	7	1436	c.1303C>A	c.(1303-1305)Ctg>Atg	p.L435M	TBC1D24_ENST00000567020.1_Splice_Site_p.L429M|RP11-20I23.1_ENST00000564543.1_Intron|TBC1D24_ENST00000434757.2_Splice_Site_p.L435M	NM_001199107.1	NP_001186036.1	Q9ULP9	TBC24_HUMAN	TBC1 domain family, member 24	435	TLD.				neuron projection development (GO:0031175)	cytoplasm (GO:0005737)|neuromuscular junction (GO:0031594)|terminal bouton (GO:0043195)	Rab GTPase activator activity (GO:0005097)			endometrium(2)|kidney(4)|large_intestine(3)|lung(4)	13						TCCACCCCAGCTGCAGCCTGA	0.672																																						ENST00000567020.1																			0				endometrium(2)|kidney(4)|large_intestine(3)|lung(4)	13						c.e6-1		TBC1 domain family, member 24							10	14	12					16																	2550269		2027	4172	6199	SO:0001630	splice_region_variant	57465				neuron projection development	cytoplasm	protein binding|Rab GTPase activator activity	g.chr16:2550269C>A	AB032997	CCDS42107.1, CCDS55980.1	16p13.3	2014-05-07				ENSG00000162065			29203	protein-coding gene	gene with protein product	"TBC/LysM-associated domain containing 6"	613577	"deafness, autosomal recessive 86"	DFNB86		10574461, 24387994, 24729539	Standard	NM_001199107		Approved	KIAA1171, TLDC6, DFNA65	uc002cql.3	Q9ULP9		ENST00000293970.5:c.1303-1C>A	16.37:g.2550269C>A						TBC1D24_ENST00000434757.2_Splice_Site_p.L435_splice|RP11-20I23.1_ENST00000564543.1_Intron|TBC1D24_ENST00000293970.5_Splice_Site_p.L435_splice	p.L429_splice	NM_020705.2	NP_065756.1	Q9ULP9	TBC24_HUMAN			6	1425	+			435			TLD.		A0JNW3|B9A6M6|Q2KJ08	Splice_Site	SNP	ENST00000293970.5	37	c.1284_splice	CCDS55980.1	.	.	.	.	.	.	.	.	.	.	C	16.76	3.212516	0.58452	.	.	ENSG00000162065	ENST00000293970;ENST00000434757	T	0.55760	0.5	5.36	4.4	0.53042	TLDc (2);	0.000000	0.64402	D	0.000001	T	0.54303	0.1850	L	0.52011	1.625	0.58432	D	0.999999	P;P	0.50369	0.934;0.919	P;P	0.51701	0.677;0.548	T	0.52563	-0.8559	9	.	.	.	-20.6826	9.4882	0.38942	0.0:0.8369:0.0:0.1631	.	435;429	Q9ULP9;Q9ULP9-2	TBC24_HUMAN;.	M	429;435	ENSP00000390106:L435M	.	L	+	1	2	TBC1D24	2490270	1.000000	0.71417	1.000000	0.80357	0.742000	0.42306	0.915000	0.28638	1.391000	0.46566	0.561000	0.74099	CTG		0.672	TBC1D24-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000435637.1	NM_020705	Missense_Mutation	5	17	1	0	1	1	1	5	17					A	2550269	C	A	2550269	5	1	262	1	0	0	0	0	0	0	1	0	15611	811	28	5	1303	5	TBC1D24	16	2550269	Splice_Site	SNP	C	TCGA-J4-8198-01A-11D-2260-08		2550269	87804484	27	12322											
MYO15A	51168	broad.mit.edu	37	chr17	18023607	18023607	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagctggaggtgcccctgcCaccctctctggacattcctc	6	9	10	16	0	1	0	0	0	1	0	4	3	2	2	5	3	3	1	5	3	1	1			TCGA-J4-8198-01A-11D-2260-08	TCGA-J4-8198-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d289d-fcb7-456e-833f-11f3b2d5a361	5050d3e5-3b45-4d06-b454-7ccd753837dc	g.chr17:18023607C>T	ENST00000205890.5	+	2	1831	c.1493C>T	c.(1492-1494)cCa>cTa	p.P498L		NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	498					inner ear morphogenesis (GO:0042472)|locomotory behavior (GO:0007626)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|stereocilium (GO:0032420)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					GTGCCCCTGCCACCCTCTCTG	0.642																																						ENST00000205890.5																			0				breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99						c.(1492-1494)cCa>cTa		myosin XVA							36	44	41					17																	18023607		2045	4178	6223	SO:0001583	missense	51168				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity	g.chr17:18023607C>T	AF144094	CCDS42271.1	17p11.2	2011-09-27			ENSG00000091536	ENSG00000091536		"Myosins / Myosin superfamily : Class XV"	7594	protein-coding gene	gene with protein product		602666		DFNB3, MYO15		9603736	Standard	NM_016239		Approved		uc021trl.1	Q9UKN7	OTTHUMG00000059390	ENST00000205890.5:c.1493C>T	17.37:g.18023607C>T	ENSP00000205890:p.Pro498Leu						p.P498L	NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN			2	1831	+	all_neural(463;0.228)		498			Myosin head-like.		B4DFC7	Missense_Mutation	SNP	ENST00000205890.5	37	c.1493C>T	CCDS42271.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.368143	0.82463	.	.	ENSG00000091536	ENST00000205890	T	0.43294	0.95	5.1	5.1	0.69264	.	.	.	.	.	T	0.55893	0.1949	L	0.32530	0.975	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.59820	-0.7382	9	0.72032	D	0.01	.	18.1103	0.89533	0.0:1.0:0.0:0.0	.	498	Q9UKN7	MYO15_HUMAN	L	498	ENSP00000205890:P498L	ENSP00000205890:P498L	P	+	2	0	MYO15A	17964332	0.996000	0.38824	0.752000	0.31206	0.802000	0.45316	3.626000	0.54245	2.374000	0.81015	0.561000	0.74099	CCA		0.642	MYO15A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132048.1	NM_016239		17	37	0	0	0	1	0	17	37					T	18023607	C	T	18023607	3	4	262	1	0	0	0	0	1	0	0	0	10063	594	21	3	1495	3	MYO15A	17	18023607	Missense_Mutation	SNP	C	TCGA-J4-8198-01A-11D-2260-08		18023607	63171603	28	12323											
EPN2	22905	broad.mit.edu	37	chr17	19237548	19237548	+	Frame_Shift_Del	DEL	C	C	-																															agcccaggccactggcacaaCcaaccctttccttctctagt																										TCGA-J4-8198-01A-11D-2260-08	TCGA-J4-8198-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d289d-fcb7-456e-833f-11f3b2d5a361	5050d3e5-3b45-4d06-b454-7ccd753837dc	g.chr17:19237548delC	ENST00000314728.5	+	11	2391	c.1907delC	c.(1906-1908)accfs	p.T636fs	EPN2_ENST00000347697.2_Frame_Shift_Del_p.T579fs|EPN2_ENST00000575595.1_Frame_Shift_Del_p.T344fs|EPN2_ENST00000571254.1_Frame_Shift_Del_p.T572fs|EPN2_ENST00000395620.2_Frame_Shift_Del_p.T579fs|EPN2_ENST00000395626.1_Intron|RP11-135L13.4_ENST00000581122.1_RNA|EPN2_ENST00000395618.3_Frame_Shift_Del_p.T351fs	NM_014964.4	NP_055779.2	O95208	EPN2_HUMAN	epsin 2	636	3 X 3 AA repeats of N-P-F.|6 X 3 AA repeats of [DE]-P-W.				embryonic organ development (GO:0048568)|endocytosis (GO:0006897)|in utero embryonic development (GO:0001701)|Notch signaling pathway (GO:0007219)	clathrin coat of endocytic vesicle (GO:0030128)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	lipid binding (GO:0008289)			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	19	all_cancers(12;3.11e-05)|all_epithelial(12;0.00121)|Hepatocellular(7;0.00345)|Breast(13;0.143)					ACTGGCACAACCAACCCTTTC	0.622																																						ENST00000314728.5																			0				breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	19						c.(1906-1908)acfs		epsin 2							36	28	31					17																	19237548		2196	4277	6473	SO:0001589	frameshift_variant	22905				endocytosis		lipid binding	g.chr17:19237548delC	AB028988	CCDS11203.1, CCDS11204.1, CCDS42277.1	17p11.2	2012-11-19			ENSG00000072134	ENSG00000072134			18639	protein-coding gene	gene with protein product	"Eps15 binding protein"	607263				10567358	Standard	NM_014964		Approved	KIAA1065, EHB21	uc002gvd.4	O95208	OTTHUMG00000178447	ENST00000314728.5:c.1907delC	17.37:g.19237548delC	ENSP00000320543:p.Thr636fs					EPN2_ENST00000571254.1_Frame_Shift_Del_p.T572fs|EPN2_ENST00000395620.2_Frame_Shift_Del_p.T579fs|EPN2_ENST00000395626.1_Intron|EPN2_ENST00000575595.1_Frame_Shift_Del_p.T344fs|EPN2_ENST00000395618.3_Frame_Shift_Del_p.T351fs|EPN2_ENST00000347697.2_Frame_Shift_Del_p.T579fs	p.T636fs	NM_014964.4	NP_055779.2	O95208	EPN2_HUMAN			11	2391	+	all_cancers(12;3.11e-05)|all_epithelial(12;0.00121)|Hepatocellular(7;0.00345)|Breast(13;0.143)		636			3 X 3 AA repeats of N-P-F.|6 X 3 AA repeats of [DE]-P-W.		A8MTV8|B3KRX8|E9PBC2|O95207|Q52LD0|Q9H7Z2|Q9UPT7	Frame_Shift_Del	DEL	ENST00000314728.5	37	c.1907delC	CCDS11203.1																																																																																				0.622	EPN2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000132283.3	NM_014964		2	4						2	4	---	---	---	---	-	19237548	C	-	19237548	7	5	262	1	0	1	0	1	0	0	0	0	5186	507	18	0	1941	0	EPN2	17	19237548	Frame_Shift_Del	DEL	C	TCGA-J4-8198-01A-11D-2260-08	1213941	19237548	61957662	29	12324											
KRT25	147183	broad.mit.edu	37	chr17	38907252	38907252	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tttccagggtttgaagagtgCgcttcatttcagtcagctca	8	14	10	9	1	4	2	4	1	0	1	5	2	5	2	1	1	2	3	1	1	1	4			TCGA-J4-8198-01A-11D-2260-08	TCGA-J4-8198-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d289d-fcb7-456e-833f-11f3b2d5a361	5050d3e5-3b45-4d06-b454-7ccd753837dc	g.chr17:38907252C>T	ENST00000312150.4	-	5	971	c.911G>A	c.(910-912)cGc>cAc	p.R304H		NM_181534.3	NP_853512.1			keratin 25											endometrium(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(4)	16		Breast(137;0.00526)				TTGAAGAGTGCGCTTCATTTC	0.473																																						ENST00000312150.4																			0				endometrium(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(4)	16						c.(910-912)cGc>cAc		keratin 25							124	122	123					17																	38907252		2203	4300	6503	SO:0001583	missense	147183					cytoplasm|intermediate filament	structural molecule activity	g.chr17:38907252C>T	AK129503	CCDS11373.1	17q21.2	2013-01-16	2006-07-17	2006-07-17	ENSG00000204897	ENSG00000204897		"-", "Intermediate filaments type I, keratins (acidic)"	30839	protein-coding gene	gene with protein product			"keratin 25A"	KRT25A		16831889	Standard	NM_181534		Approved		uc002hve.3	Q7Z3Z0	OTTHUMG00000133373	ENST00000312150.4:c.911G>A	17.37:g.38907252C>T	ENSP00000310573:p.Arg304His						p.R304H	NM_181534.3	NP_853512.1	Q7Z3Z0	K1C25_HUMAN			5	971	-		Breast(137;0.00526)	304			Coil 2.|Rod.			Missense_Mutation	SNP	ENST00000312150.4	37	c.911G>A	CCDS11373.1	.	.	.	.	.	.	.	.	.	.	C	28.0	4.878808	0.91740	.	.	ENSG00000204897	ENST00000312150	D	0.90504	-2.68	5.84	5.84	0.93424	Filament (1);	0.000000	0.64402	D	0.000005	D	0.95345	0.8489	M	0.74546	2.27	0.44227	D	0.997062	D	0.89917	1.0	D	0.83275	0.996	D	0.94344	0.7573	9	.	.	.	.	20.1533	0.98095	0.0:1.0:0.0:0.0	.	304	Q7Z3Z0	K1C25_HUMAN	H	304	ENSP00000310573:R304H	.	R	-	2	0	KRT25	36160778	1.000000	0.71417	0.994000	0.49952	0.957000	0.61999	3.708000	0.54845	2.758000	0.94735	0.655000	0.94253	CGC		0.473	KRT25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257218.1	NM_181534		11	100	0	0	0	1	0	11	100					T	38907252	C	T	38907252	3	4	262	1	0	0	0	0	1	0	0	0	8462	768	27	1	457	1	KRT25	17	38907252	Missense_Mutation	SNP	C	TCGA-J4-8198-01A-11D-2260-08	19669704	38907252	42287958	30	12325											
ABCC3	8714	broad.mit.edu	37	chr17	48745031	48745031	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcctgaagcaggtggagggCatcaggcagggtgagctcca	9	7	16	9	0	1	2	1	2	0	0	3	3	3	3	2	5	2	4	2	5	1	1			TCGA-J4-8198-01A-11D-2260-08	TCGA-J4-8198-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d289d-fcb7-456e-833f-11f3b2d5a361	5050d3e5-3b45-4d06-b454-7ccd753837dc	g.chr17:48745031C>A	ENST00000285238.8	+	12	1628	c.1548C>A	c.(1546-1548)ggC>ggA	p.G516G	ABCC3_ENST00000427699.1_Silent_p.G516G	NM_003786.3	NP_003777.2	O15438	MRP3_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 3	516	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33			BRCA - Breast invasive adenocarcinoma(22;3.05e-09)		Cisplatin(DB00515)|Clotrimazole(DB00257)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Doxorubicin(DB00997)|Etoposide(DB00773)|Ezetimibe(DB00973)|Fluorouracil(DB00544)|Folic Acid(DB00158)|Gadoxetate(DB08884)|Glutathione(DB00143)|Glyburide(DB01016)|Indomethacin(DB00328)|Lamivudine(DB00709)|Leucovorin(DB00650)|Methotrexate(DB00563)|Metyrapone(DB01011)|Nifedipine(DB01115)|Omeprazole(DB00338)|Phenobarbital(DB01174)|Probenecid(DB01032)|Rifampicin(DB01045)|Sulfinpyrazone(DB01138)|Verapamil(DB00661)|Vincristine(DB00541)	AGGTGGAGGGCATCAGGCAGG	0.612																																						ENST00000285238.8																			0				breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33						c.(1546-1548)ggC>ggA		ATP-binding cassette, sub-family C (CFTR/MRP), member 3	Glibenclamide(DB01016)						72	59	63					17																	48745031		2203	4300	6503	SO:0001819	synonymous_variant	8714				bile acid metabolic process	integral to plasma membrane|membrane fraction	ATP binding|bile acid-exporting ATPase activity|organic anion transmembrane transporter activity	g.chr17:48745031C>A	Y17151	CCDS32681.1, CCDS45739.1	17q21	2012-03-14			ENSG00000108846	ENSG00000108846		"ATP binding cassette transporters / subfamily C"	54	protein-coding gene	gene with protein product	"canalicular multispecific organic anion transporter 2"	604323				8894702, 9827529	Standard	NM_003786		Approved	MRP3, cMOAT2, EST90757, MLP2, MOAT-D	uc002isl.3	O15438	OTTHUMG00000162245	ENST00000285238.8:c.1548C>A	17.37:g.48745031C>A						ABCC3_ENST00000427699.1_Silent_p.G516G	p.G516G	NM_003786.3	NP_003777.2	O15438	MRP3_HUMAN	BRCA - Breast invasive adenocarcinoma(22;3.05e-09)		12	1628	+			516			ABC transmembrane type-1 1.		B2RPA9|D3DTX9|O60265|O60922|O75621|O95078|O95289|O95290|Q86X85|Q9UN52	Silent	SNP	ENST00000285238.8	37	c.1548C>A	CCDS32681.1																																																																																				0.612	ABCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368083.2	NM_020038		5	59	1	0	1	1	1	5	59					A	48745031	C	A	48745031	2	1	262	1	0	0	0	0	0	0	0	1	54	697	25	5		5	ABCC3	17	48745031	Silent	SNP	C	TCGA-J4-8198-01A-11D-2260-08	9837779	48745031	32450179	31	12326											
MED13	9969	broad.mit.edu	37	chr17	60060259	60060259	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tacaagtctgaattttcataTttgactgaaccttgagcact	12	15	6	8	0	2	4	1	4	1	0	2	4	2	4	1	0	3	1	1	0	5	6			TCGA-J4-8198-01A-11D-2260-08	TCGA-J4-8198-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d289d-fcb7-456e-833f-11f3b2d5a361	5050d3e5-3b45-4d06-b454-7ccd753837dc	g.chr17:60060259T>A	ENST00000397786.2	-	16	3181	c.3105A>T	c.(3103-3105)aaA>aaT	p.K1035N		NM_005121.2	NP_005112.2	Q9UHV7	MED13_HUMAN	mediator complex subunit 13	1035					androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|receptor activity (GO:0004872)|RNA polymerase II transcription cofactor activity (GO:0001104)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			breast(4)|central_nervous_system(1)|endometrium(10)|kidney(24)|large_intestine(15)|liver(1)|lung(20)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						AATTTTCATATTTGACTGAAC	0.507																																						ENST00000397786.2																			0				breast(4)|central_nervous_system(1)|endometrium(10)|kidney(24)|large_intestine(15)|liver(1)|lung(20)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						c.(3103-3105)aaA>aaT		mediator complex subunit 13							84	85	85					17																	60060259		1945	4133	6078	SO:0001583	missense	9969				androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	g.chr17:60060259T>A	AB011165	CCDS42366.1	17q22-q23	2007-07-30	2007-07-30	2007-07-30		ENSG00000108510			22474	protein-coding gene	gene with protein product		603808	"thyroid hormone receptor associated protein 1"	THRAP1		1019863	Standard	NM_005121		Approved	KIAA0593, TRAP240	uc002izo.3	Q9UHV7		ENST00000397786.2:c.3105A>T	17.37:g.60060259T>A	ENSP00000380888:p.Lys1035Asn						p.K1035N	NM_005121.2	NP_005112.2	Q9UHV7	MED13_HUMAN			16	3181	-			1035					B2RU05|O60334	Missense_Mutation	SNP	ENST00000397786.2	37	c.3105A>T	CCDS42366.1	.	.	.	.	.	.	.	.	.	.	T	17.07	3.294136	0.60086	.	.	ENSG00000108510	ENST00000397786;ENST00000262436	T	0.75704	-0.96	5.84	4.77	0.60923	.	0.000000	0.85682	D	0.000000	D	0.82273	0.5001	M	0.68952	2.095	0.58432	D	0.999995	D	0.76494	0.999	D	0.78314	0.991	T	0.82102	-0.0623	10	0.66056	D	0.02	-0.9803	7.6878	0.28550	0.0:0.2281:0.0:0.7719	.	1035	Q9UHV7	MED13_HUMAN	N	1035;1034	ENSP00000380888:K1035N	ENSP00000262436:K1034N	K	-	3	2	MED13	57415041	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	0.587000	0.23909	1.049000	0.40321	0.533000	0.62120	AAA		0.507	MED13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445461.1	NM_005121		17	37	0	0	0	1	0	17	37					A	60060259	T	A	60060259	3	1	262	1	0	0	0	0	1	0	0	0	9430	1490	52	5	3479	5	MED13	17	60060259	Missense_Mutation	SNP	T	TCGA-J4-8198-01A-11D-2260-08	11315228	60060259	21134951	32	12327											
EPB41L3	23136	broad.mit.edu	37	chr18	5416266	5416266	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tctggacggctcataacctgGcagtttgcagtcattctcct	7	13	9	12	1	4	0	2	0	2	0	5	1	4	1	2	3	2	4	2	3	1	3			TCGA-J4-8198-01A-11D-2260-08	TCGA-J4-8198-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d289d-fcb7-456e-833f-11f3b2d5a361	5050d3e5-3b45-4d06-b454-7ccd753837dc	g.chr18:5416266G>T	ENST00000341928.2	-	13	1958	c.1618C>A	c.(1618-1620)Cca>Aca	p.P540T	EPB41L3_ENST00000540638.2_Intron|EPB41L3_ENST00000544123.1_Intron|EPB41L3_ENST00000542652.2_Intron|EPB41L3_ENST00000542146.1_Intron|EPB41L3_ENST00000342933.3_Missense_Mutation_p.P540T|EPB41L3_ENST00000427684.2_Intron|EPB41L3_ENST00000400111.3_Intron	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	540	Spectrin--actin-binding. {ECO:0000255}.				apoptotic process (GO:0006915)|cortical actin cytoskeleton organization (GO:0030866)|cortical cytoskeleton organization (GO:0030865)|cytoskeletal anchoring at plasma membrane (GO:0007016)|myelin maintenance (GO:0043217)|neuron projection morphogenesis (GO:0048812)|paranodal junction assembly (GO:0030913)|protein localization to juxtaparanode region of axon (GO:0071205)|protein localization to paranode region of axon (GO:0002175)|protein localization to plasma membrane (GO:0072659)|regulation of cell shape (GO:0008360)	axolemma (GO:0030673)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)|juxtaparanode region of axon (GO:0044224)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						TCATAACCTGGCAGTTTGCAG	0.582																																						ENST00000341928.2																			0				breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						c.(1618-1620)Cca>Aca		erythrocyte membrane protein band 4.1-like 3							79	80	79					18																	5416266		2203	4300	6503	SO:0001583	missense	23136				cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity	g.chr18:5416266G>T	AB023204	CCDS11838.1, CCDS62381.1, CCDS62382.1	18p11.32	2006-06-28			ENSG00000082397	ENSG00000082397			3380	protein-coding gene	gene with protein product		605331				9828140, 9892180	Standard	NM_012307		Approved	DAL1, KIAA0987, 4.1B	uc002kmt.1	Q9Y2J2	OTTHUMG00000131562	ENST00000341928.2:c.1618C>A	18.37:g.5416266G>T	ENSP00000343158:p.Pro540Thr					EPB41L3_ENST00000542146.1_Intron|EPB41L3_ENST00000400111.3_Intron|EPB41L3_ENST00000342933.3_Missense_Mutation_p.P540T|EPB41L3_ENST00000542652.2_Intron|EPB41L3_ENST00000427684.2_Intron|EPB41L3_ENST00000544123.1_Intron|EPB41L3_ENST00000540638.2_Intron	p.P540T	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN			13	1958	-			540			Spectrin--actin-binding (Potential).		B7Z4I5|F5GX05|O95713|Q9BRP5	Missense_Mutation	SNP	ENST00000341928.2	37	c.1618C>A	CCDS11838.1	.	.	.	.	.	.	.	.	.	.	G	0.096	-1.159027	0.01686	.	.	ENSG00000082397	ENST00000341928;ENST00000342933	T;T	0.80214	-1.35;-1.35	4.82	-1.84	0.07809	.	0.638768	0.15562	N	0.255889	T	0.61337	0.2339	L	0.36672	1.1	0.09310	N	1	B	0.17667	0.023	B	0.14023	0.01	T	0.42050	-0.9474	10	0.12430	T	0.62	.	2.1753	0.03860	0.3175:0.4115:0.1339:0.1371	.	540	Q9Y2J2	E41L3_HUMAN	T	540	ENSP00000343158:P540T;ENSP00000341138:P540T	ENSP00000343158:P540T	P	-	1	0	EPB41L3	5406266	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.135000	0.10420	-0.474000	0.06862	-0.300000	0.09419	CCA		0.582	EPB41L3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254424.1	NM_012307		25	73	1	0	1.75199e-13	1	1.86878e-13	25	73					T	5416266	G	T	5416266	3	4	262	1	0	0	0	0	1	0	0	0	5154	1203	42	5	1685	5	EPB41L3	18	5416266	Missense_Mutation	SNP	G	TCGA-J4-8198-01A-11D-2260-08		5416266	72660982	33	12328											
ATP5A1	498	broad.mit.edu	37	chr18	43666432	43666432	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	taattgcagggcggatacctTtgtagaacaattctgtttcc	10	14	9	8	1	1	1	0	0	1	1	2	2	2	2	2	2	3	3	2	2	5	7			TCGA-J4-8198-01A-11D-2260-08	TCGA-J4-8198-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d289d-fcb7-456e-833f-11f3b2d5a361	5050d3e5-3b45-4d06-b454-7ccd753837dc	g.chr18:43666432T>C	ENST00000398752.6	-	9	1326	c.1205A>G	c.(1204-1206)aAa>aGa	p.K402R	ATP5A1_ENST00000593152.2_Missense_Mutation_p.K352R|ATP5A1_ENST00000282050.2_Missense_Mutation_p.K402R|ATP5A1_ENST00000590665.1_Missense_Mutation_p.K380R	NM_001001935.2|NM_004046.5	NP_001001935.1|NP_004037.1	P25705	ATPA_HUMAN	ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit 1, cardiac muscle	402					ATP biosynthetic process (GO:0006754)|ATP catabolic process (GO:0006200)|ATP hydrolysis coupled proton transport (GO:0015991)|cellular metabolic process (GO:0044237)|embryo development (GO:0009790)|lipid metabolic process (GO:0006629)|mitochondrial ATP synthesis coupled proton transport (GO:0042776)|negative regulation of endothelial cell proliferation (GO:0001937)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial proton-transporting ATP synthase complex (GO:0005753)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|proton-transporting ATP synthase complex, catalytic core F(1) (GO:0045261)	ATP binding (GO:0005524)|MHC class I protein binding (GO:0042288)|poly(A) RNA binding (GO:0044822)|proton-transporting ATP synthase activity, rotational mechanism (GO:0046933)|proton-transporting ATPase activity, rotational mechanism (GO:0046961)|transmembrane transporter activity (GO:0022857)			breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(8)|skin(1)|urinary_tract(1)	22						GCGGATACCTTTGTAGAACAA	0.408																																						ENST00000593152.2																			0				breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(8)|skin(1)|urinary_tract(1)	22						c.(1054-1056)aAa>aGa		ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit 1, cardiac muscle							72	66	68					18																	43666432		2203	4300	6503	SO:0001583	missense	498				ATP hydrolysis coupled proton transport|embryo development|lipid metabolic process|negative regulation of endothelial cell proliferation|respiratory electron transport chain	mitochondrial matrix|plasma membrane	ATP binding|eukaryotic cell surface binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|MHC class I protein binding|proton-transporting ATPase activity, rotational mechanism	g.chr18:43666432T>C	D14710	CCDS11927.1, CCDS58620.1, CCDS59315.1	18q21	2012-10-12	2006-01-13		ENSG00000152234	ENSG00000152234	3.6.1.14	"Mitochondrial respiratory chain complex / Complex V", "ATPases / F-type"	823	protein-coding gene	gene with protein product		164360	"ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit, isoform 2, non-cardiac muscle-like 2", "ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit, isoform 1, cardiac muscle"	ATP5AL2, ATPM		1830491	Standard	NM_001257334		Approved	ATP5A, hATP1, OMR, ORM	uc002lbr.2	P25705	OTTHUMG00000132637	ENST00000398752.6:c.1205A>G	18.37:g.43666432T>C	ENSP00000381736:p.Lys402Arg					ATP5A1_ENST00000398752.6_Missense_Mutation_p.K402R|ATP5A1_ENST00000282050.2_Missense_Mutation_p.K402R|ATP5A1_ENST00000590665.1_Missense_Mutation_p.K380R	p.K352R	NM_001257335.1	NP_001244264.1	P25705	ATPA_HUMAN			9	1594	-			402					A8K092|B4DY56|K7ENP3|Q53XX6|Q8IXV2|Q96FB4|Q96HW2|Q96IR6|Q9BTV8	Missense_Mutation	SNP	ENST00000398752.6	37	c.1055A>G	CCDS11927.1	.	.	.	.	.	.	.	.	.	.	T	17.26	3.345062	0.61073	.	.	ENSG00000152234	ENST00000282050;ENST00000398752;ENST00000542290	T;T	0.77098	-1.07;-1.07	4.66	4.66	0.58398	ATPase, F1/V1/A1 complex, alpha/beta subunit, nucleotide-binding domain (1);	0.000000	0.85682	D	0.000000	T	0.70701	0.3254	L	0.37630	1.12	0.51233	D	0.999911	B	0.15719	0.014	B	0.28991	0.097	T	0.65450	-0.6165	10	0.26408	T	0.33	-17.2407	14.1672	0.65486	0.0:0.0:0.0:1.0	.	402	P25705	ATPA_HUMAN	R	402;402;352	ENSP00000282050:K402R;ENSP00000381736:K402R	ENSP00000282050:K402R	K	-	2	0	ATP5A1	41920430	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	8.037000	0.88933	1.744000	0.51775	0.456000	0.33151	AAA		0.408	ATP5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255884.1	NM_004046		10	20	0	0	0	1	0	10	20					C	43666432	T	C	43666432	3	2	262	1	0	0	0	0	1	0	0	0	1147	1841	64	4	472	4	ATP5A1	18	43666432	Missense_Mutation	SNP	T	TCGA-J4-8198-01A-11D-2260-08	38250166	43666432	34410816	34	12329											
ZNF433	163059	broad.mit.edu	37	chr19	12126896	12126896	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggcatgtggaactatggaaTgctttcccacattcattaca	12	12	8	9	0	1	0	1	0	0	0	2	2	2	2	1	3	3	2	1	3	4	4			TCGA-J4-8198-01A-11D-2260-08	TCGA-J4-8198-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d289d-fcb7-456e-833f-11f3b2d5a361	5050d3e5-3b45-4d06-b454-7ccd753837dc	g.chr19:12126896T>C	ENST00000344980.6	-	4	956	c.786A>G	c.(784-786)gcA>gcG	p.A262A	CTD-2006C1.2_ENST00000495324.1_RNA|CTD-2006C1.2_ENST00000406892.2_RNA|ZNF433_ENST00000419886.2_Silent_p.A227A|CTD-2006C1.2_ENST00000476474.1_RNA	NM_001080411.1	NP_001073880.1	Q8N7K0	ZN433_HUMAN	zinc finger protein 433	262					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(1)|prostate(1)|skin(1)	14						AACTATGGAATGCTTTCCCAC	0.418																																						ENST00000419886.2																			0				breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(1)|prostate(1)|skin(1)	14						c.(679-681)gcA>gcG		zinc finger protein 433							88	88	88					19																	12126896		2202	4299	6501	SO:0001819	synonymous_variant	163059				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12126896T>C	AK098300	CCDS45983.1	19p13.13	2013-01-08			ENSG00000197647	ENSG00000197647		"Zinc fingers, C2H2-type", "-"	20811	protein-coding gene	gene with protein product							Standard	NM_001080411		Approved	FLJ40981	uc002msy.1	Q8N7K0	OTTHUMG00000156427	ENST00000344980.6:c.786A>G	19.37:g.12126896T>C						CTD-2006C1.2_ENST00000495324.1_RNA|CTD-2006C1.2_ENST00000406892.2_RNA|ZNF433_ENST00000344980.6_Silent_p.A262A|CTD-2006C1.2_ENST00000476474.1_RNA	p.A227A			Q8N7K0	ZN433_HUMAN			5	972	-			262					Q86VX3	Silent	SNP	ENST00000344980.6	37	c.681A>G	CCDS45983.1																																																																																				0.418	ZNF433-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403716.1	NM_152602		20	46	0	0	0	1	0	20	46					C	12126896	T	C	12126896	2	2	262	1	0	0	0	0	0	0	0	1	17904	1451	51	4		4	ZNF433	19	12126896	Silent	SNP	T	TCGA-J4-8198-01A-11D-2260-08		12126896	47002087	35	12330											
C19orf44	84167	broad.mit.edu	37	chr19	16620545	16620545	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atctgaagcccccatggtgaAcacagtcagctcagcttatt	11	10	8	12	0	3	2	2	2	1	0	3	2	3	2	2	1	4	2	2	1	3	2			TCGA-J4-8198-01A-11D-2260-08	TCGA-J4-8198-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d289d-fcb7-456e-833f-11f3b2d5a361	5050d3e5-3b45-4d06-b454-7ccd753837dc	g.chr19:16620545A>G	ENST00000221671.3	+	5	1541	c.1385A>G	c.(1384-1386)aAc>aGc	p.N462S	CTD-3222D19.2_ENST00000409035.1_Intron|C19orf44_ENST00000594035.1_Missense_Mutation_p.N462S	NM_032207.2	NP_115583.1	Q9H6X5	CS044_HUMAN	chromosome 19 open reading frame 44	462										endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|stomach(1)|urinary_tract(2)	16						CCCATGGTGAACACAGTCAGC	0.547																																						ENST00000221671.3																			0				endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|stomach(1)|urinary_tract(2)	16						c.(1384-1386)aAc>aGc		chromosome 19 open reading frame 44							79	77	78					19																	16620545		2203	4300	6503	SO:0001583	missense	84167							g.chr19:16620545A>G	AK025395	CCDS12345.1, CCDS74306.1	19p13.11	2011-11-24			ENSG00000105072	ENSG00000105072			26141	protein-coding gene	gene with protein product						12477932	Standard	NM_032207		Approved	FLJ21742	uc002neh.1	Q9H6X5		ENST00000221671.3:c.1385A>G	19.37:g.16620545A>G	ENSP00000221671:p.Asn462Ser					C19orf44_ENST00000594035.1_Missense_Mutation_p.N462S|CTD-3222D19.2_ENST00000409035.1_Intron	p.N462S	NM_032207.2	NP_115583.1	Q9H6X5	CS044_HUMAN			5	1541	+			462					Q8N6Y7	Missense_Mutation	SNP	ENST00000221671.3	37	c.1385A>G	CCDS12345.1	.	.	.	.	.	.	.	.	.	.	A	0.016	-1.518151	0.00967	.	.	ENSG00000105072	ENST00000221671	.	.	.	4.03	-0.04	0.13873	.	0.840154	0.10733	N	0.640416	T	0.07863	0.0197	N	0.00972	-1.085	0.09310	N	1	B;B;B	0.12013	0.002;0.001;0.005	B;B;B	0.06405	0.001;0.0;0.002	T	0.35724	-0.9777	9	0.11794	T	0.64	0.0456	3.9404	0.09325	0.2676:0.1838:0.5486:0.0	.	462;135;462	Q9H6X5;B4DN63;Q9H6X5-2	CS044_HUMAN;.;.	S	462	.	ENSP00000221671:N462S	N	+	2	0	C19orf44	16481545	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.172000	0.16704	-0.263000	0.09378	-0.417000	0.06048	AAC		0.547	C19orf44-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000461218.1	NM_032207		20	33	0	0	0	1	0	20	33					G	16620545	A	G	16620545	3	3	262	1	0	0	0	0	1	0	0	0	1927	43	2	4	1399	4	C19orf44	19	16620545	Missense_Mutation	SNP	A	TCGA-J4-8198-01A-11D-2260-08	4493649	16620545	42508438	36	12331											
RSPH6A	81492	broad.mit.edu	37	chr19	46303813	46303813	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggtggtccagggtgccaggtGcatgatttctgtggtggaga	6	11	18	6	0	1	2	0	1	1	1	2	3	2	2	2	6	2	1	2	6	0	1			TCGA-J4-8198-01A-11D-2260-08	TCGA-J4-8198-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d289d-fcb7-456e-833f-11f3b2d5a361	5050d3e5-3b45-4d06-b454-7ccd753837dc	g.chr19:46303813G>A	ENST00000221538.3	-	5	1949	c.1807C>T	c.(1807-1809)Cac>Tac	p.H603Y	RSPH6A_ENST00000597055.1_Missense_Mutation_p.H603Y|RSPH6A_ENST00000600188.1_Missense_Mutation_p.H339Y	NM_030785.3	NP_110412.1	Q9H0K4	RSH6A_HUMAN	radial spoke head 6 homolog A (Chlamydomonas)	603	Glu-rich.					intracellular (GO:0005622)				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	32						GGTGCCAGGTGCATGATTTCT	0.667																																						ENST00000221538.3																			0				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	32						c.(1807-1809)Cac>Tac		radial spoke head 6 homolog A (Chlamydomonas)							49	44	46					19																	46303813		2203	4298	6501	SO:0001583	missense	81492					intracellular		g.chr19:46303813G>A	AL136761	CCDS12675.1	19q13.3	2010-02-17	2009-11-18	2009-11-18	ENSG00000104941	ENSG00000104941			14241	protein-coding gene	gene with protein product		607548	"radial spokehead-like 1"	RSHL1		11237735	Standard	NM_030785		Approved	RSP4, RSP6, RSPH4B	uc002pdm.3	Q9H0K4		ENST00000221538.3:c.1807C>T	19.37:g.46303813G>A	ENSP00000221538:p.His603Tyr					RSPH6A_ENST00000600188.1_Missense_Mutation_p.H339Y|RSPH6A_ENST00000597055.1_Missense_Mutation_p.H603Y	p.H603Y	NM_030785.3	NP_110412.1	Q9H0K4	RSH6A_HUMAN			5	1949	-			603			Glu-rich.		Q53FE2|Q6PEZ9	Missense_Mutation	SNP	ENST00000221538.3	37	c.1807C>T	CCDS12675.1	.	.	.	.	.	.	.	.	.	.	G	10.96	1.499623	0.26861	.	.	ENSG00000104941	ENST00000221538	T	0.15952	2.38	5.03	2.81	0.32909	.	0.324218	0.36932	N	0.002324	T	0.23611	0.0571	L	0.45581	1.43	0.09310	N	1	D	0.61080	0.989	P	0.55055	0.767	T	0.05784	-1.0864	10	0.29301	T	0.29	-1.8314	10.4857	0.44719	0.0:0.0:0.6589:0.3411	.	603	Q9H0K4	RSH6A_HUMAN	Y	603	ENSP00000221538:H603Y	ENSP00000221538:H603Y	H	-	1	0	RSPH6A	50995653	0.803000	0.28956	0.844000	0.33320	0.224000	0.24922	0.527000	0.22987	0.787000	0.33731	0.555000	0.69702	CAC		0.667	RSPH6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461657.1			12	36	0	0	0	1	0	12	36					A	46303813	G	A	46303813	3	1	262	1	0	0	0	0	1	0	0	0	13707	1319	46	3	354	3	RSPH6A	19	46303813	Missense_Mutation	SNP	G	TCGA-J4-8198-01A-11D-2260-08	29683268	46303813	12825170	37	12332											
NLRP12	91662	broad.mit.edu	37	chr19	54314362	54314362	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctggtgtcccacggtcctcGcgtgtccccggcctgtgtcc	1	10	12	18	4	0	0	0	0	0	0	5	0	4	0	7	3	0	0	7	3	0	0			TCGA-J4-8198-01A-11D-2260-08	TCGA-J4-8198-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d289d-fcb7-456e-833f-11f3b2d5a361	5050d3e5-3b45-4d06-b454-7ccd753837dc	g.chr19:54314362G>A	ENST00000324134.6	-	3	719	c.551C>T	c.(550-552)gCg>gTg	p.A184V	NLRP12_ENST00000354278.3_Missense_Mutation_p.A184V|NLRP12_ENST00000535162.1_Missense_Mutation_p.A184V|NLRP12_ENST00000345770.5_Missense_Mutation_p.A184V|NLRP12_ENST00000351894.4_Missense_Mutation_p.A184V|NLRP12_ENST00000391773.1_Missense_Mutation_p.A184V|NLRP12_ENST00000391772.1_Missense_Mutation_p.A184V|NLRP12_ENST00000391775.3_Missense_Mutation_p.A184V	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12	184					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|cellular response to cytokine stimulus (GO:0071345)|dendritic cell migration (GO:0036336)|negative regulation of cytokine secretion (GO:0050710)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 secretion (GO:0050711)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of NIK/NF-kappaB signaling (GO:1901223)|negative regulation of protein autophosphorylation (GO:0031953)|negative regulation of signal transduction (GO:0009968)|negative regulation of Toll signaling pathway (GO:0045751)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of MHC class I biosynthetic process (GO:0045345)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of interleukin-18 biosynthetic process (GO:0045381)|release of cytoplasmic sequestered NF-kappaB (GO:0008588)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)			NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		CACGGTCCTCGCGTGTCCCCG	0.647																																						ENST00000324134.6																			0				NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80						c.(550-552)gCg>gTg		NLR family, pyrin domain containing 12							85	70	75					19																	54314362		2203	4300	6503	SO:0001583	missense	91662				negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding	g.chr19:54314362G>A	AY095146	CCDS12864.1, CCDS62784.1, CCDS62785.1	19q13.42	2014-09-17	2006-12-08	2006-12-08	ENSG00000142405	ENSG00000142405		"Nucleotide-binding domain and leucine rich repeat containing"	22938	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 12"	609648	"NACHT, leucine rich repeat and PYD containing 12"	NALP12		12563287, 12019269	Standard	NM_001277129		Approved	RNO2, PYPAF7, Monarch1, PAN6, CLR19.3	uc002qcj.5	P59046	OTTHUMG00000060776	ENST00000324134.6:c.551C>T	19.37:g.54314362G>A	ENSP00000319377:p.Ala184Val					NLRP12_ENST00000391773.1_Missense_Mutation_p.A184V|NLRP12_ENST00000345770.5_Missense_Mutation_p.A184V|NLRP12_ENST00000535162.1_Missense_Mutation_p.A184V|NLRP12_ENST00000391775.3_Missense_Mutation_p.A184V|NLRP12_ENST00000354278.3_Missense_Mutation_p.A184V|NLRP12_ENST00000391772.1_Missense_Mutation_p.A184V|NLRP12_ENST00000351894.4_Missense_Mutation_p.A184V	p.A184V	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN		GBM - Glioblastoma multiforme(134;0.026)	3	719	-	Ovarian(34;0.19)		184					A8MTQ2|B3KTE7|Q8NEU4|Q9BY26	Missense_Mutation	SNP	ENST00000324134.6	37	c.551C>T	CCDS12864.1	.	.	.	.	.	.	.	.	.	.	G	8.202	0.798329	0.16397	.	.	ENSG00000142405	ENST00000324134;ENST00000535162;ENST00000351894;ENST00000354278;ENST00000391775;ENST00000391773;ENST00000345770;ENST00000391772	D;D;D;D;D;D;D	0.89123	-2.47;-2.47;-2.47;-2.47;-2.47;-2.47;-2.47	4.04	2.99	0.34606	.	0.569423	0.14536	N	0.313599	D	0.84329	0.5448	M	0.63843	1.955	0.09310	N	0.999999	P;P;P;P	0.52316	0.952;0.858;0.571;0.858	B;B;B;B	0.41174	0.349;0.122;0.048;0.122	T	0.74601	-0.3611	10	0.35671	T	0.21	.	5.4504	0.16563	0.1075:0.0:0.6959:0.1966	.	184;184;184;184	F2Z321;A8K407;A8MTQ2;P59046	.;.;.;NAL12_HUMAN	V	184	ENSP00000319377:A184V;ENSP00000438030:A184V;ENSP00000340473:A184V;ENSP00000346231:A184V;ENSP00000375655:A184V;ENSP00000375653:A184V;ENSP00000375652:A184V	ENSP00000319377:A184V	A	-	2	0	NLRP12	59006174	0.001000	0.12720	0.001000	0.08648	0.305000	0.27757	1.107000	0.31110	0.861000	0.35504	0.297000	0.19635	GCG		0.647	NLRP12-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000134340.1	NM_144687		20	63	0	0	0	1	0	20	63					A	54314362	G	A	54314362	3	1	262	1	0	0	0	0	1	0	0	0	10474	1087	38	1	2762	1	NLRP12	19	54314362	Missense_Mutation	SNP	G	TCGA-J4-8198-01A-11D-2260-08	8010549	54314362	4814621	38	12333											
LRRC3	81543	broad.mit.edu	37	chr21	45877185	45877185	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctggttcgccatggtgatcGcctacgtcgtgtactatgtg	5	13	13	10	4	0	1	0	1	0	0	3	1	0	1	2	2	2	3	2	2	3	4	rs144515231		TCGA-J4-8198-01A-11D-2260-08	TCGA-J4-8198-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d289d-fcb7-456e-833f-11f3b2d5a361	5050d3e5-3b45-4d06-b454-7ccd753837dc	g.chr21:45877185G>A	ENST00000291592.4	+	2	975	c.658G>A	c.(658-660)Gcc>Acc	p.A220T	LRRC3-AS1_ENST00000426578.1_RNA|LRRC3DN_ENST00000596691.1_5'Flank	NM_030891.3	NP_112153.1	Q9BY71	LRRC3_HUMAN	leucine rich repeat containing 3	220						integral component of membrane (GO:0016021)				endometrium(2)|kidney(1)|lung(1)|urinary_tract(1)	5		Breast(209;0.00908)		COAD - Colon adenocarcinoma(84;0.148)|Lung(125;0.195)		CATGGTGATCGCCTACGTCGT	0.642																																						ENST00000291592.4																			0				endometrium(2)|kidney(1)|lung(1)|urinary_tract(1)	5						c.(658-660)Gcc>Acc		leucine rich repeat containing 3		G	THR/ALA	1,4405	2.1+/-5.4	0,1,2202	78	76	77		658	-9.8	0.1	21	dbSNP_134	77	0,8600		0,0,4300	no	missense	LRRC3	NM_030891.3	58	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	220/258	45877185	1,13005	2203	4300	6503	SO:0001583	missense	81543					integral to membrane	protein binding	g.chr21:45877185G>A	AB058646	CCDS13711.1	21q22.3	2011-12-07	2002-06-20		ENSG00000160233	ENSG00000160233			14965	protein-coding gene	gene with protein product			"chromosome 21 open reading frame 102"	C21orf102		12036297	Standard	NM_030891		Approved		uc002zfa.3	Q9BY71	OTTHUMG00000040847	ENST00000291592.4:c.658G>A	21.37:g.45877185G>A	ENSP00000291592:p.Ala220Thr						p.A220T	NM_030891.3	NP_112153.1	Q9BY71	LRRC3_HUMAN		COAD - Colon adenocarcinoma(84;0.148)|Lung(125;0.195)	2	975	+		Breast(209;0.00908)	220					Q0VDJ2	Missense_Mutation	SNP	ENST00000291592.4	37	c.658G>A	CCDS13711.1	.	.	.	.	.	.	.	.	.	.	G	10.06	1.248017	0.22880	2.27E-4	0.0	ENSG00000160233	ENST00000291592	T	0.59083	0.29	4.87	-9.75	0.00506	.	0.350509	0.28784	N	0.014143	T	0.31389	0.0795	N	0.17474	0.49	0.30590	N	0.761654	B	0.15930	0.015	B	0.09377	0.004	T	0.18241	-1.0343	10	0.08837	T	0.75	-21.6312	18.5163	0.90936	0.3622:0.0:0.6378:0.0	.	220	Q9BY71	LRRC3_HUMAN	T	220	ENSP00000291592:A220T	ENSP00000291592:A220T	A	+	1	0	LRRC3	44701613	0.000000	0.05858	0.088000	0.20740	0.434000	0.31775	-0.337000	0.07852	-2.188000	0.00758	-0.424000	0.05967	GCC		0.642	LRRC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098095.3			3	90	0	0	0	1	0	3	90					A	45877185	G	A	45877185	3	1	262	1	0	0	0	0	1	0	0	0	8984	1087	38	1	660	1	LRRC3	21	45877185	Missense_Mutation	SNP	G	TCGA-J4-8198-01A-11D-2260-08		45877185	2252710	39	12334											
DRP2	1821	broad.mit.edu	37	chrX	100513328	100513328	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagagctgaggcgcctgaaGtggcagcatgaggaggcagc	10	4	19	8	1	0	4	0	3	0	1	0	6	0	5	1	5	3	4	1	5	1	0			TCGA-J4-8198-01A-11D-2260-08	TCGA-J4-8198-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d289d-fcb7-456e-833f-11f3b2d5a361	5050d3e5-3b45-4d06-b454-7ccd753837dc	g.chrX:100513328G>A	ENST00000395209.3	+	22	2948	c.2421G>A	c.(2419-2421)aaG>aaA	p.K807K	DRP2_ENST00000541709.1_Silent_p.K729K|DRP2_ENST00000402866.1_Silent_p.K807K|DRP2_ENST00000538510.1_Silent_p.K807K	NM_001939.2	NP_001930.2	Q13474	DRP2_HUMAN	dystrophin related protein 2	807					central nervous system development (GO:0007417)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(10)|ovary(3)|prostate(1)|skin(2)|urinary_tract(2)	31						GGCGCCTGAAGTGGCAGCATG	0.602																																						ENST00000395209.3																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(10)|ovary(3)|prostate(1)|skin(2)|urinary_tract(2)	31						c.(2419-2421)aaG>aaA		dystrophin related protein 2							26	25	25					X																	100513328		2197	4290	6487	SO:0001819	synonymous_variant	1821				central nervous system development	cytoplasm|cytoskeleton	zinc ion binding	g.chrX:100513328G>A	U43519	CCDS14480.2, CCDS55465.1	Xq22	2008-02-05			ENSG00000102385	ENSG00000102385			3032	protein-coding gene	gene with protein product		300052				8640231	Standard	NM_001939		Approved		uc004egz.2	Q13474	OTTHUMG00000022020	ENST00000395209.3:c.2421G>A	X.37:g.100513328G>A						DRP2_ENST00000402866.1_Silent_p.K807K|DRP2_ENST00000541709.1_Silent_p.K729K|DRP2_ENST00000538510.1_Silent_p.K807K	p.K807K	NM_001939.2	NP_001930.2	Q13474	DRP2_HUMAN			22	2948	+			807					A6ZKI5|A8K1B0|B1B1F3|B4DIZ0	Silent	SNP	ENST00000395209.3	37	c.2421G>A	CCDS14480.2																																																																																				0.602	DRP2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057522.3	NM_001939		2	4	0	0	0	1	0	2	4					A	100513328	G	A	100513328	2	1	262	1	0	0	0	0	0	0	0	1	4764	1020	36	3		3	DRP2	23	100513328	Silent	SNP	G	TCGA-J4-8198-01A-11D-2260-08		100513328	54757232	40	12335											
PTPRF	5792	broad.mit.edu	37	chr1	44071948	44071948	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcaaggcggagaggagcagcGgcggcggcggcggcaggcag	8	0	23	10	6	0	1	0	0	0	1	0	3	0	2	0	9	2	4	0	9	1	0	rs377569778	byFrequency	TCGA-J4-8200-01A-11D-A29Q-08	TCGA-J4-8200-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0045d518-7b93-44b2-bb7b-dc11c85b3c93	e0bbf450-eb07-4a04-bfb5-5d1a5e885209	g.chr1:44071948G>A	ENST00000359947.4	+	20	3861	c.3521G>A	c.(3520-3522)cGg>cAg	p.R1174Q	PTPRF_ENST00000422171.2_Missense_Mutation_p.R522Q|PTPRF_ENST00000372414.3_Missense_Mutation_p.R1174Q|PTPRF_ENST00000372413.3_Missense_Mutation_p.R1165Q|PTPRF_ENST00000438120.1_Missense_Mutation_p.R1165Q|PTPRF_ENST00000496447.1_3'UTR	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F	1174					cell adhesion (GO:0007155)|cell migration (GO:0016477)|negative regulation of receptor binding (GO:1900121)|peptidyl-tyrosine dephosphorylation (GO:0035335)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	heparin binding (GO:0008201)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				GAGGAGCAGCGGCGGCGGCGG	0.632													G|||	2	0.000399361	0.0015	0	5008	,	,		15712	0		0	False		,,,				2504	0					ENST00000359947.4																			0				NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72						c.(3520-3522)cGg>cAg		protein tyrosine phosphatase, receptor type, F		G	GLN/ARG,GLN/ARG	1,4363		0,1,2181	41	52	48		3521,3494	2.1	1	1		48	1,8519		0,1,4259	no	missense,missense	PTPRF	NM_002840.3,NM_130440.2	43,43	0,2,6440	AA,AG,GG		0.0117,0.0229,0.0155	benign,benign	1174/1908,1165/1899	44071948	2,12882	2182	4260	6442	SO:0001583	missense	5792				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity	g.chr1:44071948G>A	Y00815	CCDS489.2, CCDS490.2	1p34	2013-02-11			ENSG00000142949	ENSG00000142949		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	9670	protein-coding gene	gene with protein product		179590		LAR		7558042	Standard	NM_130440		Approved		uc001cjr.3	P10586	OTTHUMG00000007501	ENST00000359947.4:c.3521G>A	1.37:g.44071948G>A	ENSP00000353030:p.Arg1174Gln					PTPRF_ENST00000438120.1_Missense_Mutation_p.R1165Q|PTPRF_ENST00000372413.3_Missense_Mutation_p.R1165Q|PTPRF_ENST00000372414.3_Missense_Mutation_p.R1174Q|PTPRF_ENST00000422171.2_Missense_Mutation_p.R522Q|PTPRF_ENST00000496447.1_3'UTR	p.R1174Q	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN			20	3861	+	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)	1174					D3DPX6|D3DPX7|Q5T021|Q5T022|Q5W9G2|Q86WS0	Missense_Mutation	SNP	ENST00000359947.4	37	c.3521G>A	CCDS489.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.74|15.74	2.921439|2.921439	0.52653|0.52653	2.29E-4|2.29E-4	1.17E-4|1.17E-4	ENSG00000142949|ENSG00000142949	ENST00000429895|ENST00000359947;ENST00000438120;ENST00000372414;ENST00000372413;ENST00000422171;ENST00000372407	.|T;T;T;T;T;T	.|0.56275	.|0.47;0.5;0.47;0.5;2.43;4.11	5.2|5.2	2.08|2.08	0.27032|0.27032	.|.	.|0.281004	.|0.18882	.|N	.|0.128559	T|T	0.37348|0.37348	0.1000|0.1000	L|L	0.44542|0.44542	1.39|1.39	0.45415|0.45415	D|D	0.998395|0.998395	.|P;B;B;D;D	.|0.56521	.|0.782;0.051;0.218;0.976;0.963	.|B;B;B;B;B	.|0.41619	.|0.203;0.014;0.063;0.32;0.361	T|T	0.15549|0.15549	-1.0433|-1.0433	5|10	.|0.15952	.|T	.|0.53	.|.	7.092|7.092	0.25289|0.25289	0.0705:0.1205:0.6755:0.1334|0.0705:0.1205:0.6755:0.1334	.|.	.|819;522;740;1165;1174	.|Q59FI2;F2Z3B8;Q5W9G3;P10586-2;P10586	.|.;.;.;.;PTPRF_HUMAN	S|Q	820|1174;1165;1174;1165;522;235	.|ENSP00000353030:R1174Q;ENSP00000398822:R1165Q;ENSP00000361491:R1174Q;ENSP00000361490:R1165Q;ENSP00000387885:R522Q;ENSP00000361484:R235Q	.|ENSP00000353030:R1174Q	G|R	+|+	1|2	0|0	PTPRF|PTPRF	43844535|43844535	0.983000|0.983000	0.35010|0.35010	0.985000|0.985000	0.45067|0.45067	0.858000|0.858000	0.48976|0.48976	0.421000|0.421000	0.21280|0.21280	0.684000|0.684000	0.31448|0.31448	0.561000|0.561000	0.74099|0.74099	GGC|CGG		0.632	PTPRF-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000019710.1			5	156	0	0	0	1	0	5	156					A	44071948	G	A	44071948	3	1	263	1	0	0	0	0	1	0	0	0	12801	1116	39	2	3591	2	PTPRF	1	44071948	Missense_Mutation	SNP	G	TCGA-J4-8200-01A-11D-A29Q-08		44071948	205178673	1	12336											
DIRAS3	9077	broad.mit.edu	37	chr1	68512452	68512452	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cttggctgaaatctccatgaAggcgcaattccactccatcg	10	10	8	13	2	1	2	0	2	1	0	5	2	3	2	3	2	0	2	3	2	3	2			TCGA-J4-8200-01A-11D-A29Q-08	TCGA-J4-8200-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0045d518-7b93-44b2-bb7b-dc11c85b3c93	e0bbf450-eb07-4a04-bfb5-5d1a5e885209	g.chr1:68512452A>C	ENST00000370981.1	-	4	1165	c.529T>G	c.(529-531)Ttc>Gtc	p.F177V	GNG12-AS1_ENST00000413628.1_RNA|DIRAS3_ENST00000395201.1_Missense_Mutation_p.F177V|GNG12-AS1_ENST00000420587.1_RNA			O95661	DIRA3_HUMAN	DIRAS family, GTP-binding RAS-like 3	177					regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of gene expression by genetic imprinting (GO:0006349)|small GTPase mediated signal transduction (GO:0007264)	plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			NS(1)|cervix(1)|endometrium(2)|large_intestine(1)|lung(6)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						ATCTCCATGAAGGCGCAATTC	0.547																																						ENST00000370981.1																			0				NS(1)|cervix(1)|endometrium(2)|large_intestine(1)|lung(6)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						c.(529-531)Ttc>Gtc		DIRAS family, GTP-binding RAS-like 3							120	118	118					1																	68512452		2203	4300	6503	SO:0001583	missense	9077				regulation of cyclin-dependent protein kinase activity|regulation of gene expression by genetic imprinting|small GTPase mediated signal transduction	plasma membrane	GTP binding|GTPase activity	g.chr1:68512452A>C	U96750	CCDS641.1	1p31	2014-05-09		2005-01-27	ENSG00000162595	ENSG00000162595			687	protein-coding gene	gene with protein product		605193	"ras homolog gene family, member I"	ARHI		9874798	Standard	XM_006711027		Approved	NOEY2	uc001ded.3	O95661	OTTHUMG00000009544	ENST00000370981.1:c.529T>G	1.37:g.68512452A>C	ENSP00000360020:p.Phe177Val					GNG12-AS1_ENST00000413628.1_RNA|GNG12-AS1_ENST00000420587.1_RNA|DIRAS3_ENST00000395201.1_Missense_Mutation_p.F177V	p.F177V			O95661	DIRA3_HUMAN			4	1165	-			177					B3KMP3	Missense_Mutation	SNP	ENST00000370981.1	37	c.529T>G	CCDS641.1	.	.	.	.	.	.	.	.	.	.	A	24.8	4.572546	0.86542	.	.	ENSG00000162595	ENST00000370981;ENST00000395201	D;D	0.82619	-1.63;-1.63	4.66	4.66	0.58398	Small GTP-binding protein domain (1);	.	.	.	.	D	0.92519	0.7624	H	0.95574	3.69	0.53688	D	0.999979	D	0.89917	1.0	D	0.85130	0.997	D	0.94620	0.7812	9	0.87932	D	0	.	14.1477	0.65360	1.0:0.0:0.0:0.0	.	177	O95661	DIRA3_HUMAN	V	177	ENSP00000360020:F177V;ENSP00000378627:F177V	ENSP00000360020:F177V	F	-	1	0	DIRAS3	68285040	1.000000	0.71417	0.950000	0.38849	0.730000	0.41778	5.397000	0.66302	1.877000	0.54381	0.529000	0.55759	TTC		0.547	DIRAS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026354.2	NM_004675		14	116	0	0	0	1	0	14	116					C	68512452	A	C	68512452	3	2	263	1	0	0	0	0	1	0	0	0	4532	72	3	5	164	5	DIRAS3	1	68512452	Missense_Mutation	SNP	A	TCGA-J4-8200-01A-11D-A29Q-08	24440504	68512452	180738169	2	12337											
NPHS2	7827	broad.mit.edu	37	chr1	179526351	179526351	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctatctccattataaacatGtctttggtcacgatctaggc	10	15	6	10	1	5	0	1	0	4	0	6	1	5	0	1	2	1	0	1	2	5	5			TCGA-J4-8200-01A-11D-A29Q-08	TCGA-J4-8200-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0045d518-7b93-44b2-bb7b-dc11c85b3c93	e0bbf450-eb07-4a04-bfb5-5d1a5e885209	g.chr1:179526351G>A	ENST00000367615.4	-	5	617	c.549C>T	c.(547-549)gaC>gaT	p.D183D	NPHS2_ENST00000367616.4_Intron	NM_014625.2	NP_055440.1	Q9NP85	PODO_HUMAN	nephrosis 2, idiopathic, steroid-resistant (podocin)	183			D -> Y (in NPHS2). {ECO:0000269|PubMed:24227627}.		actin cytoskeleton reorganization (GO:0031532)|excretion (GO:0007588)|metanephric glomerular visceral epithelial cell development (GO:0072249)	cell-cell junction (GO:0005911)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|slit diaphragm (GO:0036057)				NS(1)|endometrium(1)|large_intestine(3)|lung(10)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	20						TTATAAACATGTCTTTGGTCA	0.418																																						ENST00000367615.4																			0				NS(1)|endometrium(1)|large_intestine(3)|lung(10)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	20						c.(547-549)gaC>gaT		nephrosis 2, idiopathic, steroid-resistant (podocin)							108	98	101					1																	179526351		2203	4300	6503	SO:0001819	synonymous_variant	7827				excretion	integral to plasma membrane	protein binding	g.chr1:179526351G>A	AJ279254	CCDS1331.1, CCDS72988.1	1q25-q31	2014-06-27			ENSG00000116218	ENSG00000116218			13394	protein-coding gene	gene with protein product		604766				8589695, 10742096	Standard	XM_005245483		Approved	SRN1, PDCN	uc001gmq.4	Q9NP85	OTTHUMG00000035252	ENST00000367615.4:c.549C>T	1.37:g.179526351G>A						NPHS2_ENST00000367616.4_Intron	p.D183D	NM_014625.2	NP_055440.1	Q9NP85	PODO_HUMAN			5	617	-			183					B1AM32|B1AM33|Q8N6Q5	Silent	SNP	ENST00000367615.4	37	c.549C>T	CCDS1331.1																																																																																				0.418	NPHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085283.1			12	35	0	0	0	1	0	12	35					A	179526351	G	A	179526351	2	1	263	1	0	0	0	0	0	0	0	1	10583	1368	48	3		3	NPHS2	1	179526351	Silent	SNP	G	TCGA-J4-8200-01A-11D-A29Q-08	111013899	179526351	69724270	3	12338											
GOLT1A	127845	broad.mit.edu	37	chr1	204170816	204170816	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	catgccgaggaggggccagcGtaggagcacgataaccacac	12	3	14	12	3	0	0	0	0	0	0	0	4	0	2	3	4	4	2	3	4	2	2			TCGA-J4-8200-01A-11D-A29Q-08	TCGA-J4-8200-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0045d518-7b93-44b2-bb7b-dc11c85b3c93	e0bbf450-eb07-4a04-bfb5-5d1a5e885209	g.chr1:204170816G>A	ENST00000308302.3	-	3	426	c.241C>T	c.(241-243)Cgc>Tgc	p.R81C	GOLT1A_ENST00000475517.1_5'UTR	NM_198447.1	NP_940849.1			golgi transport 1A											kidney(1)|lung(2)|urinary_tract(1)	4	all_cancers(21;0.0165)|Breast(84;0.179)|all_epithelial(62;0.242)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.244)			AGGGGCCAGCGTAGGAGCACG	0.532																																						ENST00000308302.3																			0				kidney(1)|lung(2)|urinary_tract(1)	4						c.(241-243)Cgc>Tgc		golgi transport 1A							140	148	145					1																	204170816		2203	4300	6503	SO:0001583	missense	127845				protein transport|vesicle-mediated transport	Golgi membrane|integral to membrane		g.chr1:204170816G>A	BC058832	CCDS1443.1	1q32.1	2010-06-24	2010-06-24		ENSG00000174567	ENSG00000174567			24766	protein-coding gene	gene with protein product			"golgi transport 1 homolog A (S. cerevisiae)"			12477932	Standard	NM_198447		Approved	FLJ42654, CGI-141, YMR292W, GOT1, MGC62027	uc001has.1	Q6ZVE7	OTTHUMG00000036056	ENST00000308302.3:c.241C>T	1.37:g.204170816G>A	ENSP00000308535:p.Arg81Cys					GOLT1A_ENST00000475517.1_5'UTR	p.R81C	NM_198447.1	NP_940849.1	Q6ZVE7	GOT1A_HUMAN	KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.244)		3	426	-	all_cancers(21;0.0165)|Breast(84;0.179)|all_epithelial(62;0.242)		81						Missense_Mutation	SNP	ENST00000308302.3	37	c.241C>T	CCDS1443.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.949868	0.73787	.	.	ENSG00000174567	ENST00000308302	.	.	.	5.48	5.48	0.80851	.	0.096565	0.46758	D	0.000279	T	0.79046	0.4380	M	0.89214	3.015	0.58432	D	0.999996	D	0.69078	0.997	P	0.58820	0.846	T	0.83041	-0.0157	9	0.72032	D	0.01	-21.914	13.6306	0.62193	0.0:0.1555:0.8445:0.0	.	81	Q6ZVE7	GOT1A_HUMAN	C	81	.	ENSP00000308535:R81C	R	-	1	0	GOLT1A	202437439	0.994000	0.37717	1.000000	0.80357	0.919000	0.55068	0.897000	0.28390	2.571000	0.86741	0.650000	0.86243	CGC		0.532	GOLT1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087887.1	NM_198447		6	141	0	0	0	1	0	6	141					A	204170816	G	A	204170816	3	1	263	1	0	0	0	0	1	0	0	0	6570	1145	40	1	169	1	GOLT1A	1	204170816	Missense_Mutation	SNP	G	TCGA-J4-8200-01A-11D-A29Q-08	24644465	204170816	45079805	4	12339											
OBSCN	84033	broad.mit.edu	37	chr1	228437915	228437915	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgcgaggccgggggccagcGgctctccttcagcctggacg	4	6	16	15	4	2	0	1	0	1	0	3	2	2	1	4	5	3	1	4	5	0	1			TCGA-J4-8200-01A-11D-A29Q-08	TCGA-J4-8200-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0045d518-7b93-44b2-bb7b-dc11c85b3c93	e0bbf450-eb07-4a04-bfb5-5d1a5e885209	g.chr1:228437915G>A	ENST00000422127.1	+	14	4327	c.4283G>A	c.(4282-4284)cGg>cAg	p.R1428Q	OBSCN_ENST00000284548.11_Missense_Mutation_p.R1428Q|OBSCN_ENST00000570156.2_Missense_Mutation_p.R1520Q|OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000366709.4_5'UTR	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	1428	Ig-like 14.			R -> Q (in Ref. 1; CAC85749). {ECO:0000305}.	apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GGGGGCCAGCGGCTCTCCTTC	0.637																																						ENST00000570156.2																			0				NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223						c.(4558-4560)cGg>cAg		obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF							64	77	73					1																	228437915		2043	4179	6222	SO:0001583	missense	84033				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	g.chr1:228437915G>A	AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"Rho guanine nucleotide exchange factors", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.4283G>A	1.37:g.228437915G>A	ENSP00000409493:p.Arg1428Gln					OBSCN_ENST00000422127.1_Missense_Mutation_p.R1428Q|OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000284548.11_Missense_Mutation_p.R1428Q|OBSCN_ENST00000366707.4_5'UTR	p.R1520Q	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN			15	4633	+		Prostate(94;0.0405)	498			Ig-like 15.		Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Missense_Mutation	SNP	ENST00000422127.1	37	c.4559G>A	CCDS58065.1	.	.	.	.	.	.	.	.	.	.	.	6.152	0.396253	0.11638	.	.	ENSG00000154358	ENST00000284548;ENST00000422127	T;T	0.04809	3.55;3.55	5.2	-5.24	0.02789	Immunoglobulin subtype (1);Immunoglobulin-like (1);	0.302419	0.29280	N	0.012614	T	0.03136	0.0092	L	0.43701	1.375	0.47009	D	0.99928	P;P	0.38677	0.642;0.584	B;B	0.33750	0.169;0.071	T	0.44251	-0.9340	10	0.18710	T	0.47	.	9.6524	0.39906	0.4715:0.1001:0.4284:0.0	.	1428;1428	Q5VST9;Q5VST9-3	OBSCN_HUMAN;.	Q	1428	ENSP00000284548:R1428Q;ENSP00000409493:R1428Q	ENSP00000284548:R1428Q	R	+	2	0	OBSCN	226504538	0.998000	0.40836	0.432000	0.26747	0.000000	0.00434	1.359000	0.34113	-0.967000	0.03582	-2.048000	0.00412	CGG		0.637	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843		9	161	0	0	0	1	0	9	161					A	228437915	G	A	228437915	3	1	263	1	0	0	0	0	1	0	0	0	10812	1116	39	2	4333	2	OBSCN	1	228437915	Missense_Mutation	SNP	G	TCGA-J4-8200-01A-11D-A29Q-08	24267099	228437915	20812706	5	12340											
RYR2	6262	broad.mit.edu	37	chr1	237608788	237608788	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cacgcacagcccgagttatcCggagcacagtcttccttttc	8	10	8	15	3	1	0	0	0	1	0	4	2	3	1	3	1	2	3	3	1	1	4	rs190140598		TCGA-J4-8200-01A-11D-A29Q-08	TCGA-J4-8200-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0045d518-7b93-44b2-bb7b-dc11c85b3c93	e0bbf450-eb07-4a04-bfb5-5d1a5e885209	g.chr1:237608788C>T	ENST00000366574.2	+	14	1575	c.1258C>T	c.(1258-1260)Cgg>Tgg	p.R420W	RYR2_ENST00000542537.1_Missense_Mutation_p.R404W|RYR2_ENST00000360064.6_Missense_Mutation_p.R418W	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	420			R -> W (in CPVT1; dbSNP:rs190140598). {ECO:0000269|PubMed:12106942, ECO:0000269|PubMed:15544015}.		BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			CCGAGTTATCCGGAGCACAGT	0.388													C|||	1	0.000199681	0	0	5008	,	,		18259	0		0.001	False		,,,				2504	0					ENST00000366574.2																			0				NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	GRCh37	CM023669	RYR2	M	rs190140598	c.(1258-1260)Cgg>Tgg		ryanodine receptor 2 (cardiac)							143	138	140					1																	237608788		1891	4118	6009	SO:0001583	missense	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237608788C>T	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"Ion channels / Ryanodine receptors", "EF-hand domain containing"	10484	protein-coding gene	gene with protein product		180902	"arrhythmogenic right ventricular dysplasia 2"	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.1258C>T	1.37:g.237608788C>T	ENSP00000355533:p.Arg420Trp					RYR2_ENST00000542537.1_Missense_Mutation_p.R404W|RYR2_ENST00000360064.6_Missense_Mutation_p.R418W	p.R420W	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		14	1575	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	420		R -> W (in CPVT1).			Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	c.1258C>T	CCDS55691.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	18.31	3.595313	0.66219	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	D;D;D	0.97232	-4.3;-4.28;-4.3	5.84	5.84	0.93424	.	0.000000	0.64402	D	0.000007	D	0.97763	0.9266	M	0.71871	2.18	0.80722	D	1	D	0.89917	1.0	P	0.61874	0.895	D	0.97862	1.0281	10	0.87932	D	0	.	13.3556	0.60625	0.0:0.9281:0.0:0.0719	.	420	Q92736	RYR2_HUMAN	W	420;418;404	ENSP00000355533:R420W;ENSP00000353174:R418W;ENSP00000443798:R404W	ENSP00000353174:R418W	R	+	1	2	RYR2	235675411	1.000000	0.71417	1.000000	0.80357	0.265000	0.26407	4.033000	0.57282	2.751000	0.94390	0.591000	0.81541	CGG		0.388	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		13	39	0	0	0	1	0	13	39					T	237608788	C	T	237608788	3	4	263	1	0	0	0	0	1	0	0	0	13769	643	23	2	1312	2	RYR2	1	237608788	Missense_Mutation	SNP	C	TCGA-J4-8200-01A-11D-A29Q-08	9170873	237608788	11641833	6	12341											
MGAT5	4249	broad.mit.edu	37	chr2	135206227	135206227	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tcttcctcttcaggtacaagGtgacctgccaaagctcagag	10	10	9	12	0	4	2	2	1	2	1	5	2	5	2	3	2	3	2	3	2	3	3			TCGA-J4-8200-01A-11D-A29Q-08	TCGA-J4-8200-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0045d518-7b93-44b2-bb7b-dc11c85b3c93	e0bbf450-eb07-4a04-bfb5-5d1a5e885209	g.chr2:135206227G>T	ENST00000409645.1	+	17	2287	c.2035G>T	c.(2035-2037)Gtg>Ttg	p.V679L	MGAT5_ENST00000281923.2_Missense_Mutation_p.V679L			Q09328	MGT5A_HUMAN	mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase	679					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase activity (GO:0030144)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|liver(1)|lung(18)|ovary(3)|pancreas(1)|skin(3)	36				BRCA - Breast invasive adenocarcinoma(221;0.0964)		CAGGTACAAGGTGACCTGCCA	0.542																																						ENST00000409645.1																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|liver(1)|lung(18)|ovary(3)|pancreas(1)|skin(3)	36						c.(2035-2037)Gtg>Ttg		mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase							205	200	202					2																	135206227		2203	4300	6503	SO:0001583	missense	4249				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,6-mannosyl-glycoprotein 6-beta-N-acetylglucosaminyltransferase activity	g.chr2:135206227G>T	D17716	CCDS2171.1	2q21	2013-02-25			ENSG00000152127	ENSG00000152127	2.4.1.155	"Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"	7049	protein-coding gene	gene with protein product		601774				8292036	Standard	NM_002410		Approved	GNT-V	uc002ttw.4	Q09328	OTTHUMG00000131681	ENST00000409645.1:c.2035G>T	2.37:g.135206227G>T	ENSP00000386377:p.Val679Leu					MGAT5_ENST00000281923.2_Missense_Mutation_p.V679L	p.V679L			Q09328	MGT5A_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0964)	17	2287	+			679					D3DP70	Missense_Mutation	SNP	ENST00000409645.1	37	c.2035G>T	CCDS2171.1	.	.	.	.	.	.	.	.	.	.	G	15.69	2.907007	0.52333	.	.	ENSG00000152127	ENST00000409645;ENST00000281923	.	.	.	5.09	5.09	0.68999	.	0.110693	0.64402	D	0.000012	T	0.52058	0.1711	L	0.44542	1.39	0.51482	D	0.999925	B	0.15141	0.012	B	0.18263	0.021	T	0.48031	-0.9070	9	0.33940	T	0.23	-17.3054	10.1754	0.42935	0.125:0.0:0.875:0.0	.	679	Q09328	MGT5A_HUMAN	L	679	.	ENSP00000281923:V679L	V	+	1	0	MGAT5	134922697	1.000000	0.71417	0.571000	0.28486	0.934000	0.57294	3.167000	0.50793	2.533000	0.85409	0.655000	0.94253	GTG		0.542	MGAT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254584.3	NM_002410		5	223	1	0	1.024e-07	1	1.26494e-07	5	223					T	135206227	G	T	135206227	3	4	263	1	0	0	0	0	1	0	0	0	9548	1261	44	5	2097	5	MGAT5	2	135206227	Missense_Mutation	SNP	G	TCGA-J4-8200-01A-11D-A29Q-08		135206227	107993146	7	12342											
GIGYF2	26058	broad.mit.edu	37	chr2	233671240	233671240	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatggcagaatggtttcaggCgggctattttactatgtctt	8	15	12	6	1	2	1	1	0	1	1	2	2	2	1	0	4	1	3	0	4	4	6			TCGA-J4-8200-01A-11D-A29Q-08	TCGA-J4-8200-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0045d518-7b93-44b2-bb7b-dc11c85b3c93	e0bbf450-eb07-4a04-bfb5-5d1a5e885209	g.chr2:233671240C>T	ENST00000409547.1	+	17	1990	c.1679C>T	c.(1678-1680)gCg>gTg	p.A560V	GIGYF2_ENST00000409196.3_Missense_Mutation_p.A554V|GIGYF2_ENST00000409480.1_Missense_Mutation_p.A582V|GIGYF2_ENST00000452341.2_Missense_Mutation_p.A391V|GIGYF2_ENST00000409451.3_Missense_Mutation_p.A581V|GIGYF2_ENST00000373563.4_Missense_Mutation_p.A560V|GIGYF2_ENST00000373566.3_Missense_Mutation_p.A582V	NM_015575.3	NP_056390.2	Q6Y7W6	PERQ2_HUMAN	GRB10 interacting GYF protein 2	560	GYF. {ECO:0000255|PROSITE- ProRule:PRU00101}.|Required for GRB10-binding. {ECO:0000250}.				adult locomotory behavior (GO:0008344)|cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|feeding behavior (GO:0007631)|homeostasis of number of cells within a tissue (GO:0048873)|insulin-like growth factor receptor signaling pathway (GO:0048009)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|musculoskeletal movement (GO:0050881)|negative regulation of translation (GO:0017148)|neuromuscular process controlling balance (GO:0050885)|post-embryonic development (GO:0009791)|spinal cord motor neuron differentiation (GO:0021522)	membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(17)|lung(11)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	63		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145)		TGGTTTCAGGCGGGCTATTTT	0.403																																						ENST00000373566.3																			0				NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(17)|lung(11)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	63						c.(1744-1746)gCg>gTg		GRB10 interacting GYF protein 2							188	184	185					2																	233671240		2203	4300	6503	SO:0001583	missense	26058				cell death		protein binding	g.chr2:233671240C>T	U80751	CCDS33401.1, CCDS46542.1, CCDS46543.1	2q37.1	2011-07-06	2008-02-11	2008-02-11	ENSG00000204120	ENSG00000204120		"Trinucleotide (CAG) repeat containing"	11960	protein-coding gene	gene with protein product	"GYF domain containing 2"	612003	"PERQ amino acid rich, with GYF domain 2", "PERQ amino acid rich, with GYF domain 3", "trinucleotide repeat containing 15", "Parkinson disease (autosomal recessive, early onset) 11"	PERQ2, PERQ3, TNRC15, PARK11		9225980, 9734811, 12771153, 18358451, 19279319	Standard	NM_015575		Approved	KIAA0642, GYF2	uc002vtk.4	Q6Y7W6	OTTHUMG00000153237	ENST00000409547.1:c.1679C>T	2.37:g.233671240C>T	ENSP00000386537:p.Ala560Val					GIGYF2_ENST00000409480.1_Missense_Mutation_p.A582V|GIGYF2_ENST00000409547.1_Missense_Mutation_p.A560V|GIGYF2_ENST00000409451.3_Missense_Mutation_p.A581V|GIGYF2_ENST00000409196.3_Missense_Mutation_p.A554V|GIGYF2_ENST00000373563.4_Missense_Mutation_p.A560V|GIGYF2_ENST00000452341.2_Missense_Mutation_p.A391V	p.A582V			Q6Y7W6	PERQ2_HUMAN		Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145)	16	1942	+		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)	560					A6H8W4|B9EG55|E9PBB0|O75137|Q7Z2Z8|Q7Z3I2|Q96HU4|Q9NV82	Missense_Mutation	SNP	ENST00000409547.1	37	c.1745C>T	CCDS33401.1	.	.	.	.	.	.	.	.	.	.	C	35	5.507136	0.96386	.	.	ENSG00000204120	ENST00000373566;ENST00000414511;ENST00000373563;ENST00000409480;ENST00000409547;ENST00000535418;ENST00000423659;ENST00000409196;ENST00000409451;ENST00000440945;ENST00000452341	T;T;T;T;T;T;T;T;T	0.81330	-1.35;-1.34;-1.35;-1.34;-1.48;-1.32;-1.35;-1.46;-1.25	5.84	5.84	0.93424	GYF (4);	0.000000	0.85682	D	0.000000	D	0.91895	0.7434	M	0.88105	2.93	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.996;0.999;0.999;0.993	D	0.92422	0.5946	10	0.72032	D	0.01	-12.8345	20.1551	0.98106	0.0:1.0:0.0:0.0	.	391;581;560;554	E9PC50;A6H8W4;Q6Y7W6;E9PBB0	.;.;PERQ2_HUMAN;.	V	582;503;560;582;560;560;503;554;581;554;391	ENSP00000362667:A582V;ENSP00000362664:A560V;ENSP00000386765:A582V;ENSP00000386537:A560V;ENSP00000404195:A503V;ENSP00000387070:A554V;ENSP00000387170:A581V;ENSP00000410297:A554V;ENSP00000411505:A391V	ENSP00000362664:A560V	A	+	2	0	GIGYF2	233379484	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.770000	0.85390	2.760000	0.94817	0.655000	0.94253	GCG		0.403	GIGYF2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000330316.2	NM_001103146		4	142	0	0	0	1	0	4	142					T	233671240	C	T	233671240	3	4	263	1	0	0	0	0	1	0	0	0	6378	768	27	1	1799	1	GIGYF2	2	233671240	Missense_Mutation	SNP	C	TCGA-J4-8200-01A-11D-A29Q-08	98465013	233671240	9528133	8	12343											
CNTN6	27255	broad.mit.edu	37	chr3	1394066	1394066	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atattaccaggtcagatgctGgatcatatacatgcatagcc	13	11	8	9	0	2	1	2	0	0	1	2	2	2	2	2	2	5	2	2	2	5	5			TCGA-J4-8200-01A-11D-A29Q-08	TCGA-J4-8200-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0045d518-7b93-44b2-bb7b-dc11c85b3c93	e0bbf450-eb07-4a04-bfb5-5d1a5e885209	g.chr3:1394066G>T	ENST00000446702.2	+	12	2050	c.1423G>T	c.(1423-1425)Gga>Tga	p.G475*	CNTN6_ENST00000350110.2_Nonsense_Mutation_p.G475*|CNTN6_ENST00000539053.1_Nonsense_Mutation_p.G403*			Q9UQ52	CNTN6_HUMAN	contactin 6	475	Ig-like C2-type 5.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|central nervous system development (GO:0007417)|Notch signaling pathway (GO:0007219)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		all_cancers(2;0.000164)|all_epithelial(2;0.107)		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)		GTCAGATGCTGGATCATATAC	0.358																																						ENST00000446702.2																			0				breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90						c.(1423-1425)Gga>Tga		contactin 6							101	94	97					3																	1394066		2203	4300	6503	SO:0001587	stop_gained	27255				axon guidance|cell adhesion|central nervous system development|Notch signaling pathway	anchored to membrane|plasma membrane		g.chr3:1394066G>T	AB003592	CCDS2557.1	3p26-p25	2013-02-11			ENSG00000134115	ENSG00000134115		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	2176	protein-coding gene	gene with protein product	"neural adhesion molecule"	607220				9486763	Standard	NM_014461		Approved	NB-3	uc003bpa.3	Q9UQ52	OTTHUMG00000119030	ENST00000446702.2:c.1423G>T	3.37:g.1394066G>T	ENSP00000407822:p.Gly475*					CNTN6_ENST00000350110.2_Nonsense_Mutation_p.G475*|CNTN6_ENST00000539053.1_Nonsense_Mutation_p.G403*	p.G475*			Q9UQ52	CNTN6_HUMAN		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)	12	2050	+		all_cancers(2;0.000164)|all_epithelial(2;0.107)	475			Ig-like C2-type 5.		Q2KHM2	Nonsense_Mutation	SNP	ENST00000446702.2	37	c.1423G>T	CCDS2557.1	.	.	.	.	.	.	.	.	.	.	G	45	11.470596	0.99565	.	.	ENSG00000134115	ENST00000446702;ENST00000539053;ENST00000350110	.	.	.	5.68	5.68	0.88126	.	0.000000	0.56097	D	0.000030	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	18.32	0.90234	0.0:0.0:1.0:0.0	.	.	.	.	X	475;403;475	.	ENSP00000341882:G475X	G	+	1	0	CNTN6	1369066	1.000000	0.71417	0.982000	0.44146	0.992000	0.81027	6.358000	0.73055	2.843000	0.97960	0.585000	0.79938	GGA		0.358	CNTN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239235.2	NM_014461		6	38	1	0	0.00116845	1	0.00129144	6	38					T	1394066	G	T	1394066	4	4	263	1	0	0	0	0	0	1	0	0	3645	1349	47	5	1465	5	CNTN6	3	1394066	Nonsense_Mutation	SNP	G	TCGA-J4-8200-01A-11D-A29Q-08		1394066	196628364	9	12344											
ST8SIA4	7903	broad.mit.edu	37	chr5	100222192	100222193	+	Frame_Shift_Ins	INS	-	-	G																															ctatgtagatcatgagaaatINSgtttagtgtccggcgcctgt																										TCGA-J4-8200-01A-11D-A29Q-08	TCGA-J4-8200-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0045d518-7b93-44b2-bb7b-dc11c85b3c93	e0bbf450-eb07-4a04-bfb5-5d1a5e885209	g.chr5:100222192_100222193insG	ENST00000231461.5	-	3	667_668	c.357_358insC	c.(355-360)aacattfs	p.I120fs	ST8SIA4_ENST00000451528.2_Frame_Shift_Ins_p.I120fs|ST8SIA4_ENST00000507360.2_5'UTR	NM_005668.4	NP_005659.1	Q92187	SIA8D_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 4	120					axon guidance (GO:0007411)|cellular protein modification process (GO:0006464)|ganglioside biosynthetic process (GO:0001574)|N-glycan processing (GO:0006491)|nervous system development (GO:0007399)|oligosaccharide metabolic process (GO:0009311)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity (GO:0003828)|sialic acid binding (GO:0033691)			NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(11)|lung(7)|stomach(1)|upper_aerodigestive_tract(1)	25		all_cancers(142;1.5e-07)|all_epithelial(76;1.43e-10)|Prostate(80;0.000644)|Lung NSC(167;0.0059)|all_lung(232;0.00914)|Ovarian(225;0.024)|Colorectal(57;0.09)|Breast(839;0.203)		COAD - Colon adenocarcinoma(37;0.00402)		TCATGAGAAATGTTTAGTGTCC	0.436																																						ENST00000231461.5																			0				NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(11)|lung(7)|stomach(1)|upper_aerodigestive_tract(1)	25						c.(355-360)aatttcfs		ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 4																																				SO:0001589	frameshift_variant	7903				axon guidance|N-glycan processing	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity	g.chr5:100222192_100222193insG	L41680	CCDS4091.1, CCDS47252.1	5q21	2013-03-01	2003-01-14	2005-02-07	ENSG00000113532	ENSG00000113532		"Sialyltransferases"	10871	protein-coding gene	gene with protein product	"ST8Sia IV"	602547	"sialyltransferase 8 (alpha-2, 8-polysialytransferase) D"	SIAT8D		7624364	Standard	NM_005668		Approved	PST, PST1	uc003knk.3	Q92187	OTTHUMG00000128727	ENST00000231461.5:c.358dupC	5.37:g.100222193_100222193dupG	ENSP00000231461:p.Ile120fs					ST8SIA4_ENST00000451528.2_Frame_Shift_Ins_p.NF119fs|ST8SIA4_ENST00000507360.2_5'UTR	p.NF119fs	NM_005668.4	NP_005659.1	Q92187	SIA8D_HUMAN		COAD - Colon adenocarcinoma(37;0.00402)	3	667_668	-		all_cancers(142;1.5e-07)|all_epithelial(76;1.43e-10)|Prostate(80;0.000644)|Lung NSC(167;0.0059)|all_lung(232;0.00914)|Ovarian(225;0.024)|Colorectal(57;0.09)|Breast(839;0.203)	119					A8KA07|G3V104|Q8N1F4|Q92693	Frame_Shift_Ins	INS	ENST00000231461.5	37	c.357_358insC	CCDS4091.1																																																																																				0.436	ST8SIA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250632.3	NM_005668		29	130						29	130	---	---	---	---	G	100222193	-	G	100222192	7	5	263	1	0	1	1	0	0	0	0	0	15233	1464	51	0	737	0	ST8SIA4	5	100222192	Frame_Shift_Ins	INS	-	TCGA-J4-8200-01A-11D-A29Q-08		100222192	80693068	10	12345											
RADIL	55698	broad.mit.edu	37	chr7	4843355	4843355	+	Frame_Shift_Del	DEL	G	G	-																															cgctgggcaggacgatgggtGgggggttttcgtaggactcc																										TCGA-J4-8200-01A-11D-A29Q-08	TCGA-J4-8200-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0045d518-7b93-44b2-bb7b-dc11c85b3c93	e0bbf450-eb07-4a04-bfb5-5d1a5e885209	g.chr7:4843355delG	ENST00000399583.3	-	11	2508	c.2321delC	c.(2320-2322)ccafs	p.P775fs	RADIL_ENST00000536091.1_3'UTR|RADIL_ENST00000538469.1_Frame_Shift_Del_p.P535fs	NM_018059.4	NP_060529.4	Q96JH8	RADIL_HUMAN	Ras association and DIL domains	775					multicellular organismal development (GO:0007275)|signal transduction (GO:0007165)|substrate adhesion-dependent cell spreading (GO:0034446)	microtubule (GO:0005874)				NS(1)|biliary_tract(2)|breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(22)|pancreas(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;7.41e-15)		GACGATGGGTGGGGGGTTTTC	0.632																																						ENST00000399583.3																			0				NS(1)|biliary_tract(2)|breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(22)|pancreas(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						c.(2320-2322)cafs		Ras association and DIL domains				2,3840		0,2,1919	17	24	21			-3.7	1	7		21	1,7947		0,1,3973	no	frameshift	RADIL	NM_018059.4		0,3,5892	A1A1,A1R,RR		0.0126,0.0521,0.0254			4843355	3,11787	2029	4165	6194	SO:0001589	frameshift_variant	55698				cell adhesion|multicellular organismal development|signal transduction		protein binding	g.chr7:4843355delG	AB058752	CCDS43544.1	7p22.1	2010-08-27			ENSG00000157927	ENSG00000157927			22226	protein-coding gene	gene with protein product		611491				16051602, 17704304	Standard	NM_018059		Approved	FLJ10324, KIAA1849, RASIP2	uc003snj.1	Q96JH8	OTTHUMG00000151753	ENST00000399583.3:c.2321delC	7.37:g.4843355delG	ENSP00000382492:p.Pro775fs					RADIL_ENST00000536091.1_3'UTR|RADIL_ENST00000538469.1_Frame_Shift_Del_p.P535fs	p.P775fs	NM_018059.4	NP_060529.4	Q96JH8	RADIL_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;7.41e-15)	11	2508	-		Ovarian(82;0.0175)	775					A4D1Z5|A5YM49|B7ZL20|Q0VFZ9|Q75LH3|Q9BSP5|Q9H0M6|Q9NW43|Q9NWC4	Frame_Shift_Del	DEL	ENST00000399583.3	37	c.2321delC	CCDS43544.1																																																																																				0.632	RADIL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323769.2	NM_018059		2	4						2	4	---	---	---	---	-	4843355	G	-	4843355	7	5	263	1	0	1	0	1	0	0	0	0	12997	1348	47	0	926	0	RADIL	7	4843355	Frame_Shift_Del	DEL	G	TCGA-J4-8200-01A-11D-A29Q-08		4843355	154295308	11	12346											
MMP16	4325	broad.mit.edu	37	chr8	89128918	89128918	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gggcactgtcggtagaggtcTtgtaggtggaggaatcttgt	7	12	17	5	1	2	1	0	0	2	1	3	3	2	3	0	6	0	3	0	6	3	4			TCGA-J4-8200-01A-11D-A29Q-08	TCGA-J4-8200-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0045d518-7b93-44b2-bb7b-dc11c85b3c93	e0bbf450-eb07-4a04-bfb5-5d1a5e885209	g.chr8:89128918T>G	ENST00000286614.6	-	6	1182	c.901A>C	c.(901-903)Aga>Cga	p.R301R	MMP16_ENST00000544227.1_5'UTR	NM_005941.4	NP_005932.2	P51512	MMP16_HUMAN	matrix metallopeptidase 16 (membrane-inserted)	301					chondrocyte proliferation (GO:0035988)|collagen catabolic process (GO:0030574)|craniofacial suture morphogenesis (GO:0097094)|embryonic cranial skeleton morphogenesis (GO:0048701)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of catalytic activity (GO:0043085)	Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|enzyme activator activity (GO:0008047)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.R301*(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(51)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	81					Marimastat(DB00786)	GGTAGAGGTCTTGTAGGTGGA	0.512																																						ENST00000286614.6																			1	Substitution - Nonsense(1)	p.R301*(1)	ovary(1)	breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(51)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	81						c.(901-903)Aga>Cga		matrix metallopeptidase 16 (membrane-inserted)							198	205	202					8																	89128918		2203	4300	6503	SO:0001819	synonymous_variant	4325				collagen catabolic process|proteolysis	cell surface|integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding	g.chr8:89128918T>G	D85511	CCDS6246.1	8q21	2009-01-09	2005-08-08		ENSG00000156103	ENSG00000156103			7162	protein-coding gene	gene with protein product		602262	"matrix metalloproteinase 16 (membrane-inserted)", "chromosome 8 open reading frame 57"	C8orf57		7559440	Standard	NM_005941		Approved	MT3-MMP, DKFZp761D112	uc003yeb.4	P51512	OTTHUMG00000163769	ENST00000286614.6:c.901A>C	8.37:g.89128918T>G						MMP16_ENST00000544227.1_5'UTR	p.R301R	NM_005941.4	NP_005932.2	P51512	MMP16_HUMAN			6	1182	-			301					B2RAN7|Q14824|Q52H48	Silent	SNP	ENST00000286614.6	37	c.901A>C	CCDS6246.1																																																																																				0.512	MMP16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375304.2	NM_005941		6	167	0	0	0	1	0	6	167					G	89128918	T	G	89128918	2	3	263	1	0	0	0	0	0	0	0	1	9655	1617	56	5		5	MMP16	8	89128918	Silent	SNP	T	TCGA-J4-8200-01A-11D-A29Q-08		89128918	57235104	12	12347											
ANKRD26	22852	broad.mit.edu	37	chr10	27381415	27381415	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctgcttttttccacttacTgcaagtaaaagtggtgtgag	9	15	10	7	0	0	1	0	1	0	0	1	1	1	1	1	1	4	4	1	1	4	5			TCGA-J4-8200-01A-11D-A29Q-08	TCGA-J4-8200-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0045d518-7b93-44b2-bb7b-dc11c85b3c93	e0bbf450-eb07-4a04-bfb5-5d1a5e885209	g.chr10:27381415T>A	ENST00000376087.4	-	4	723	c.558A>T	c.(556-558)gcA>gcT	p.A186A	ANKRD26_ENST00000436985.2_Silent_p.A186A	NM_001256053.1|NM_014915.2	NP_001242982.1|NP_055730.2	Q9UPS8	ANR26_HUMAN	ankyrin repeat domain 26	186					glucose homeostasis (GO:0042593)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of organ growth (GO:0046621)|regulation of fatty acid metabolic process (GO:0019217)|regulation of feeding behavior (GO:0060259)	actin filament (GO:0005884)|centrosome (GO:0005813)				breast(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|urinary_tract(2)	70						TTCCACTTACTGCAAGTAAAA	0.338																																						ENST00000376087.4																			0				breast(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|urinary_tract(2)	70						c.(556-558)gcA>gcT		ankyrin repeat domain 26							85	81	82					10																	27381415		1810	4072	5882	SO:0001819	synonymous_variant	22852					centrosome		g.chr10:27381415T>A	AB028997	CCDS41499.1	10p12.1	2014-09-17			ENSG00000107890	ENSG00000107890		"Ankyrin repeat domain containing"	29186	protein-coding gene	gene with protein product		610855	"thrombocytopenia 2 (autosomal dominant)"	THC2		10470851, 21211618	Standard	NM_014915		Approved	KIAA1074	uc009xku.1	Q9UPS8	OTTHUMG00000017851	ENST00000376087.4:c.558A>T	10.37:g.27381415T>A						ANKRD26_ENST00000436985.2_Silent_p.A186A	p.A186A	NM_001256053.1|NM_014915.2	NP_001242982.1|NP_055730.2	Q9UPS8	ANR26_HUMAN			4	723	-			186					A6NH29|Q2TAZ3|Q6ZR14|Q9H1Q1|Q9NSK9|Q9NTD5|Q9NW69	Silent	SNP	ENST00000376087.4	37	c.558A>T	CCDS41499.1																																																																																				0.338	ANKRD26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047296.1			7	30	0	0	0	1	0	7	30					A	27381415	T	A	27381415	2	1	263	1	0	0	0	0	0	0	0	1	654	1567	55	5		5	ANKRD26	10	27381415	Silent	SNP	T	TCGA-J4-8200-01A-11D-A29Q-08		27381415	108153332	13	12348											
BBOX1	8424	broad.mit.edu	37	chr11	27077078	27077078	+	Nonsense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctctacccagctgtatggtTgagagacaactgtccgtgct	8	12	10	11	1	1	2	0	1	1	1	3	3	2	2	2	1	4	4	2	1	3	3			TCGA-J4-8200-01A-11D-A29Q-08	TCGA-J4-8200-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0045d518-7b93-44b2-bb7b-dc11c85b3c93	e0bbf450-eb07-4a04-bfb5-5d1a5e885209	g.chr11:27077078T>A	ENST00000529202.1	+	2	440	c.101T>A	c.(100-102)tTg>tAg	p.L34*	BBOX1_ENST00000263182.3_Nonsense_Mutation_p.L34*|BBOX1_ENST00000527505.1_3'UTR|BBOX1_ENST00000525090.1_Nonsense_Mutation_p.L34*|RP11-1L12.3_ENST00000526061.1_RNA|BBOX1_ENST00000528583.1_Nonsense_Mutation_p.L34*			O75936	BODG_HUMAN	butyrobetaine (gamma), 2-oxoglutarate dioxygenase (gamma-butyrobetaine hydroxylase) 1	34					carnitine biosynthetic process (GO:0045329)|cellular nitrogen compound metabolic process (GO:0034641)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	gamma-butyrobetaine dioxygenase activity (GO:0008336)|iron ion binding (GO:0005506)|zinc ion binding (GO:0008270)			breast(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	23					Succinic acid(DB00139)|Vitamin C(DB00126)	GCTGTATGGTTGAGAGACAAC	0.473																																						ENST00000263182.3																			0				breast(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	23						c.(100-102)tTg>tAg		butyrobetaine (gamma), 2-oxoglutarate dioxygenase (gamma-butyrobetaine hydroxylase) 1	Succinic acid(DB00139)|Vitamin C(DB00126)						102	92	96					11																	27077078		2202	4299	6501	SO:0001587	stop_gained	8424				carnitine biosynthetic process	actin cytoskeleton|cytosol|intracellular membrane-bounded organelle	gamma-butyrobetaine dioxygenase activity|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding	g.chr11:27077078T>A	AF082868	CCDS7862.1	11p	2008-02-01			ENSG00000129151	ENSG00000129151	1.14.11.1		964	protein-coding gene	gene with protein product		603312		BBOX		9753662	Standard	XM_005253159		Approved	gamma-BBH, G-BBH, BBH	uc001mre.1	O75936	OTTHUMG00000166121	ENST00000529202.1:c.101T>A	11.37:g.27077078T>A	ENSP00000435781:p.Leu34*					BBOX1_ENST00000527505.1_3'UTR|BBOX1_ENST00000528583.1_Nonsense_Mutation_p.L34*|BBOX1_ENST00000529202.1_Nonsense_Mutation_p.L34*|RP11-1L12.3_ENST00000526061.1_RNA|BBOX1_ENST00000525090.1_Nonsense_Mutation_p.L34*	p.L34*	NM_003986.2	NP_003977.1	O75936	BODG_HUMAN			3	469	+			34					B2R8L7|D3DQZ1|Q6IBJ2	Nonsense_Mutation	SNP	ENST00000529202.1	37	c.101T>A	CCDS7862.1	.	.	.	.	.	.	.	.	.	.	T	37	6.344172	0.97489	.	.	ENSG00000129151	ENST00000529202;ENST00000533566;ENST00000263182;ENST00000528583;ENST00000525090	.	.	.	5.94	5.94	0.96194	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.3465	0.66668	0.0:0.0:0.0:1.0	.	.	.	.	X	34	.	ENSP00000263182:L34X	L	+	2	0	BBOX1	27033654	1.000000	0.71417	0.999000	0.59377	0.699000	0.40488	5.876000	0.69667	2.265000	0.75225	0.482000	0.46254	TTG		0.473	BBOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387946.1	NM_003986		15	50	0	0	0	1	0	15	50					A	27077078	T	A	27077078	4	1	263	1	0	0	0	0	0	1	0	0	1334	1821	63	5	103	5	BBOX1	11	27077078	Nonsense_Mutation	SNP	T	TCGA-J4-8200-01A-11D-A29Q-08		27077078	107929438	14	12349											
USP28	57646	broad.mit.edu	37	chr11	113683078	113683079	+	In_Frame_Ins	INS	-	-	GAA																															caggcctccataggaatctcINStttcaacttcttcccaggaa																								rs142728209		TCGA-J4-8200-01A-11D-A29Q-08	TCGA-J4-8200-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0045d518-7b93-44b2-bb7b-dc11c85b3c93	e0bbf450-eb07-4a04-bfb5-5d1a5e885209	g.chr11:113683078_113683079insGAA	ENST00000003302.4	-	16	1959_1960	c.1891_1892insTTC	c.(1891-1893)aga>aTTCga	p.630_631insI	USP28_ENST00000544967.1_In_Frame_Ins_p.338_339insI|USP28_ENST00000545540.1_In_Frame_Ins_p.505_506insI|USP28_ENST00000260188.5_In_Frame_Ins_p.630_631insI	NM_020886.2	NP_065937.1	Q96RU2	UBP28_HUMAN	ubiquitin specific peptidase 28	630	USP.				cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|protein deubiquitination (GO:0016579)|response to ionizing radiation (GO:0010212)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			breast(4)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(24)|ovary(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	59		all_cancers(61;3.74e-18)|all_epithelial(67;3.75e-11)|Melanoma(852;1.46e-05)|all_hematologic(158;4.65e-05)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|Prostate(24;0.0153)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|Epithelial(105;0.000122)|all cancers(92;0.00104)		ATAGGAATCTCTTTCAACTTCT	0.416																																					Melanoma(4;162 555 7664)|GBM(79;500 2010 17506)|Esophageal Squamous(9;463 924 15765)	ENST00000003302.4																			0				breast(4)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(24)|ovary(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	59						c.(1891-1893)aga>TTCaga		ubiquitin specific peptidase 28																																				SO:0001652	inframe_insertion	57646				cell proliferation|DNA damage checkpoint|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA repair|protein deubiquitination|response to ionizing radiation|ubiquitin-dependent protein catabolic process	nucleolus|nucleoplasm	protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr11:113683078_113683079insGAA	AB040948	CCDS31680.1, CCDS73394.1	11q23	2008-04-11	2005-08-08		ENSG00000048028	ENSG00000048028		"Ubiquitin-specific peptidases"	12625	protein-coding gene	gene with protein product		610748	"ubiquitin specific protease 28"			12838346, 11597335	Standard	XM_005271630		Approved	KIAA1515	uc001poh.3	Q96RU2	OTTHUMG00000168205	ENST00000003302.4:c.1891_1892insTTC	11.37:g.113683078_113683079insGAA	ENSP00000003302:p.Glu630_Arg631insIle					USP28_ENST00000545540.1_In_Frame_Ins_p.505_506insF|USP28_ENST00000544967.1_In_Frame_Ins_p.338_339insF|USP28_ENST00000260188.5_In_Frame_Ins_p.630_631insF	p.630_631insF	NM_020886.2	NP_065937.1	Q96RU2	UBP28_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|Epithelial(105;0.000122)|all cancers(92;0.00104)	16	1959_1960	-		all_cancers(61;3.74e-18)|all_epithelial(67;3.75e-11)|Melanoma(852;1.46e-05)|all_hematologic(158;4.65e-05)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|Prostate(24;0.0153)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)	630					B0YJC0|B0YJC1|Q9P213	In_Frame_Ins	INS	ENST00000003302.4	37	c.1891_1892insTTC	CCDS31680.1																																																																																				0.416	USP28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398789.1			7	100						7	100	---	---	---	---	GAA	113683079	-	GAA	113683078	7	5	263	1	0	1	1	0	0	0	0	0	17055	913	32	0	1381	0	USP28	11	113683078	In_Frame_Ins	INS	-	TCGA-J4-8200-01A-11D-A29Q-08	86606000	113683078	21323438	15	12350											
DNAJC22	79962	broad.mit.edu	37	chr12	49743299	49743299	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cagctatgtggcagaaacctTtggctccttcttgaattggt	8	14	10	9	0	1	2	0	1	1	1	2	2	2	2	2	3	2	3	2	3	3	5			TCGA-J4-8200-01A-11D-A29Q-08	TCGA-J4-8200-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0045d518-7b93-44b2-bb7b-dc11c85b3c93	e0bbf450-eb07-4a04-bfb5-5d1a5e885209	g.chr12:49743299T>C	ENST00000549441.2	+	3	1848	c.644T>C	c.(643-645)tTt>tCt	p.F215S	DNAJC22_ENST00000395069.3_Missense_Mutation_p.F215S			Q8N4W6	DJC22_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 22	215						integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|liver(2)|lung(1)|ovary(1)|pancreas(1)	10						GCAGAAACCTTTGGCTCCTTC	0.552																																						ENST00000549441.2																			0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|liver(2)|lung(1)|ovary(1)|pancreas(1)	10						c.(643-645)tTt>tCt		DnaJ (Hsp40) homolog, subfamily C, member 22							168	163	165					12																	49743299		2203	4300	6503	SO:0001583	missense	79962				protein folding	integral to membrane	heat shock protein binding|unfolded protein binding	g.chr12:49743299T>C	AK055747	CCDS8785.1	12q13.12	2011-09-02		2008-07-08	ENSG00000178401	ENSG00000178401		"Heat shock proteins / DNAJ (HSP40)"	25802	protein-coding gene	gene with protein product	"wurst homolog (Drosophila)"					17558392	Standard	NM_024902		Approved	wus, FLJ13236	uc001rua.3	Q8N4W6		ENST00000549441.2:c.644T>C	12.37:g.49743299T>C	ENSP00000446830:p.Phe215Ser					DNAJC22_ENST00000395069.3_Missense_Mutation_p.F215S	p.F215S			Q8N4W6	DJC22_HUMAN			3	1848	+			215					B3KP54	Missense_Mutation	SNP	ENST00000549441.2	37	c.644T>C	CCDS8785.1	.	.	.	.	.	.	.	.	.	.	T	15.58	2.877050	0.51801	.	.	ENSG00000178401	ENST00000549441;ENST00000395069	T;T	0.40756	1.02;1.02	4.8	4.8	0.61643	.	0.495326	0.22424	N	0.060241	T	0.26268	0.0641	N	0.08118	0	0.23528	N	0.997485	B	0.15473	0.013	B	0.16722	0.016	T	0.29336	-1.0015	10	0.87932	D	0	-1.284	13.6291	0.62186	0.0:0.0:0.0:1.0	.	215	Q8N4W6	DJC22_HUMAN	S	215	ENSP00000446830:F215S;ENSP00000378508:F215S	ENSP00000378508:F215S	F	+	2	0	DNAJC22	48029566	0.849000	0.29639	0.978000	0.43139	0.932000	0.56968	5.109000	0.64615	1.914000	0.55421	0.459000	0.35465	TTT		0.552	DNAJC22-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404302.2	NM_024902		5	184	0	0	0	1	0	5	184					C	49743299	T	C	49743299	3	2	263	1	0	0	0	0	1	0	0	0	4641	1841	64	4	646	4	DNAJC22	12	49743299	Missense_Mutation	SNP	T	TCGA-J4-8200-01A-11D-A29Q-08		49743299	84108596	16	12351											
SH2B3	10019	broad.mit.edu	37	chr12	111885274	111885274	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agggccctgatgctcatggaGtgttcctggtgcggcagagc	6	9	16	10	1	1	2	1	1	0	1	2	3	2	3	2	4	3	3	2	4	0	1			TCGA-J4-8200-01A-11D-A29Q-08	TCGA-J4-8200-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0045d518-7b93-44b2-bb7b-dc11c85b3c93	e0bbf450-eb07-4a04-bfb5-5d1a5e885209	g.chr12:111885274G>A	ENST00000341259.2	+	6	1519	c.1162G>A	c.(1162-1164)Gtg>Atg	p.V388M	SH2B3_ENST00000538307.1_Missense_Mutation_p.V186M	NM_005475.2	NP_005466.1	Q9UQQ2	SH2B3_HUMAN	SH2B adaptor protein 3	388	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|embryonic hemopoiesis (GO:0035162)|intracellular signal transduction (GO:0035556)	cytosol (GO:0005829)	phosphate ion binding (GO:0042301)|signal transducer activity (GO:0004871)			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	10					Pazopanib(DB06589)	TGCTCATGGAGTGTTCCTGGT	0.612																																						ENST00000341259.2																			0				central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	10						c.(1162-1164)Gtg>Atg		SH2B adaptor protein 3							65	70	69					12																	111885274		2203	4300	6503	SO:0001583	missense	10019				blood coagulation	cytosol	signal transducer activity	g.chr12:111885274G>A	AF055581	CCDS9153.1	12q24.12	2014-09-17				ENSG00000111252		"Pleckstrin homology (PH) domain containing", "SH2 domain containing"	29605	protein-coding gene	gene with protein product	"lymphocyte adaptor protein"	605093				10799879	Standard	NM_005475		Approved	LNK, IDDM20	uc001tse.3	Q9UQQ2		ENST00000341259.2:c.1162G>A	12.37:g.111885274G>A	ENSP00000345492:p.Val388Met					SH2B3_ENST00000538307.1_Missense_Mutation_p.V186M	p.V388M	NM_005475.2	NP_005466.1	Q9UQQ2	SH2B3_HUMAN			6	1519	+			388			SH2.		B9EGG5|O95184	Missense_Mutation	SNP	ENST00000341259.2	37	c.1162G>A	CCDS9153.1	.	.	.	.	.	.	.	.	.	.	G	19.29	3.798827	0.70567	.	.	ENSG00000111252	ENST00000341259;ENST00000551001;ENST00000538307	T;T	0.69685	-0.42;-0.42	5.0	5.0	0.66597	SH2 motif (5);	0.119548	0.56097	D	0.000027	T	0.80417	0.4619	M	0.66939	2.045	0.46478	D	0.999069	D;D;D	0.60575	0.988;0.978;0.976	P;P;D	0.67548	0.709;0.808;0.952	T	0.82067	-0.0641	10	0.62326	D	0.03	-4.3116	18.6561	0.91455	0.0:0.0:1.0:0.0	.	186;252;388	F5GYM4;Q59H48;Q9UQQ2	.;.;SH2B3_HUMAN	M	388;198;186	ENSP00000345492:V388M;ENSP00000440597:V186M	ENSP00000345492:V388M	V	+	1	0	SH2B3	110369657	1.000000	0.71417	0.954000	0.39281	0.945000	0.59286	3.673000	0.54591	2.482000	0.83794	0.462000	0.41574	GTG		0.612	SH2B3-001	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000404779.1	NM_005475		31	126	0	0	0	1	0	31	126					A	111885274	G	A	111885274	3	1	263	1	0	0	0	0	1	0	0	0	14229	1029	36	3	1180	3	SH2B3	12	111885274	Missense_Mutation	SNP	G	TCGA-J4-8200-01A-11D-A29Q-08	62141975	111885274	21966621	17	12352											
C12orf51	283450	broad.mit.edu	37	chr12	112632752	112632752	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtgctccagggtaatgtcccGgatggcagggatgtggaaga	9	8	17	7	1	0	1	0	0	0	1	2	4	2	4	2	5	1	3	2	5	2	1			TCGA-J4-8200-01A-11D-A29Q-08	TCGA-J4-8200-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0045d518-7b93-44b2-bb7b-dc11c85b3c93	e0bbf450-eb07-4a04-bfb5-5d1a5e885209	g.chr12:112632752G>A	ENST00000430131.2	-	55	8565	c.7420C>T	c.(7420-7422)Cgg>Tgg	p.R2474W	HECTD4_ENST00000377560.5_Missense_Mutation_p.R2724W|HECTD4_ENST00000550722.1_Missense_Mutation_p.R2750W			Q9Y4D8	HECD4_HUMAN	HECT domain containing E3 ubiquitin protein ligase 4	2474					glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)										GTAATGTCCCGGATGGCAGGG	0.577																																						ENST00000550722.1																			0											c.(8248-8250)Cgg>Tgg		HECT domain containing E3 ubiquitin protein ligase 4							64	69	68					12																	112632752		2129	4247	6376	SO:0001583	missense	283450							g.chr12:112632752G>A	AK091473		12q24.13	2013-07-17	2012-08-14	2012-08-14	ENSG00000173064	ENSG00000173064			26611	protein-coding gene	gene with protein product			"chromosome 12 open reading frame 51"	C12orf51		21270382	Standard	NM_001109662		Approved	FLJ34154, KIAA0614	uc021reb.1	Q9Y4D8	OTTHUMG00000150719	ENST00000430131.2:c.7420C>T	12.37:g.112632752G>A	ENSP00000404379:p.Arg2474Trp					HECTD4_ENST00000430131.2_Missense_Mutation_p.R2474W|HECTD4_ENST00000377560.5_Missense_Mutation_p.R2724W	p.R2750W	NM_001109662.3	NP_001103132.3					56	8643	-								L8B0P6|Q3MJD5|Q6P0A0|Q7L530|Q8NB70|Q8WU73|Q96NT9|Q9NZS4|Q9UFT6	Missense_Mutation	SNP	ENST00000430131.2	37	c.8248C>T		.	.	.	.	.	.	.	.	.	.	G	28.0	4.878668	0.91740	.	.	ENSG00000173064	ENST00000377560;ENST00000430131;ENST00000550722	T;T;T	0.56103	0.48;0.49;0.48	5.58	3.69	0.42338	.	.	.	.	.	T	0.47284	0.1437	L	0.27053	0.805	0.50171	D	0.999855	D	0.61697	0.99	P	0.47744	0.556	T	0.51521	-0.8695	9	0.87932	D	0	.	14.7515	0.69530	0.0:0.0:0.7367:0.2633	.	2474	Q9Y4D8	K0614_HUMAN	W	2724;2474;2750	ENSP00000366783:R2724W;ENSP00000404379:R2474W;ENSP00000449784:R2750W	ENSP00000366783:R2724W	R	-	1	2	C12orf51	111117135	1.000000	0.71417	0.998000	0.56505	0.994000	0.84299	3.709000	0.54853	0.669000	0.31146	0.655000	0.94253	CGG		0.577	HECTD4-202	KNOWN	basic	protein_coding	protein_coding		NM_173813		4	14	0	0	0	1	0	4	14					A	112632752	G	A	112632752	3	1	263	1	0	0	0	0	1	0	0	0	1696	1115	39	2	4654	2	C12orf51	12	112632752	Missense_Mutation	SNP	G	TCGA-J4-8200-01A-11D-A29Q-08	747478	112632752	21219143	18	12353											
TXNDC16	57544	broad.mit.edu	37	chr14	52936858	52936858	+	Silent	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	tattcttctgcttcttggatCgatgttatattcactggata	8	19	7	7	1	4	0	1	0	3	0	5	3	4	2	0	2	1	2	0	2	4	9	rs576864053		TCGA-J4-8200-01A-11D-A29Q-08	TCGA-J4-8200-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0045d518-7b93-44b2-bb7b-dc11c85b3c93	e0bbf450-eb07-4a04-bfb5-5d1a5e885209	g.chr14:52936858C>G	ENST00000281741.4	-	16	1886	c.1515G>C	c.(1513-1515)tcG>tcC	p.S505S	TXNDC16_ENST00000554399.1_Intron	NM_001160047.1|NM_020784.2	NP_001153519.1|NP_065835.2	Q9P2K2	TXD16_HUMAN	thioredoxin domain containing 16	505					cell redox homeostasis (GO:0045454)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|prostate(3)|skin(1)	21	Breast(41;0.0716)					CTTCTTGGATCGATGTTATAT	0.289																																						ENST00000281741.4																			0				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|prostate(3)|skin(1)	21						c.(1513-1515)tcG>tcC		thioredoxin domain containing 16							82	81	81					14																	52936858		2203	4298	6501	SO:0001819	synonymous_variant	57544				cell redox homeostasis	extracellular region		g.chr14:52936858C>G	AB037765	CCDS32083.1	14q22.1	2007-08-16	2007-08-16	2007-08-16		ENSG00000087301			19965	protein-coding gene	gene with protein product			"KIAA1344"	KIAA1344			Standard	NM_020784		Approved		uc001wzs.3	Q9P2K2		ENST00000281741.4:c.1515G>C	14.37:g.52936858C>G						TXNDC16_ENST00000554399.1_Intron	p.S505S	NM_001160047.1|NM_020784.2	NP_001153519.1|NP_065835.2	Q9P2K2	TXD16_HUMAN			16	1886	-	Breast(41;0.0716)		505					A5PKW9|A7E260|A7MD07|B9EH67|Q9H9W7	Silent	SNP	ENST00000281741.4	37	c.1515G>C	CCDS32083.1																																																																																				0.289	TXNDC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411681.1	XM_051699		5	40	0	0	0	1	0	5	40					G	52936858	C	G	52936858	2	3	263	1	0	0	0	0	0	0	0	1	16792	871	31	5		5	TXNDC16	14	52936858	Silent	SNP	C	TCGA-J4-8200-01A-11D-A29Q-08		52936858	54412682	19	12354											
GPR132	29933	broad.mit.edu	37	chr14	105518068	105518068	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacgaagcggtcgcaggagaTgcagcacaggaagaggatgc	13	3	16	9	3	0	2	0	0	0	2	1	6	0	4	0	4	4	3	0	4	2	0			TCGA-J4-8200-01A-11D-A29Q-08	TCGA-J4-8200-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0045d518-7b93-44b2-bb7b-dc11c85b3c93	e0bbf450-eb07-4a04-bfb5-5d1a5e885209	g.chr14:105518068T>A	ENST00000329797.3	-	4	1317	c.406A>T	c.(406-408)Atc>Ttc	p.I136F	GPR132_ENST00000392585.2_Missense_Mutation_p.I127F|GPR132_ENST00000546679.1_5'UTR|GPR132_ENST00000539291.2_Missense_Mutation_p.I136F	NM_001278694.1|NM_001278696.1|NM_013345.2	NP_001265623.1|NP_001265625.1|NP_037477.1	Q9UNW8	GP132_HUMAN	G protein-coupled receptor 132	136					G1/S transition of mitotic cell cycle (GO:0000082)|response to stress (GO:0006950)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)	18		all_cancers(154;0.0953)|Melanoma(154;0.155)|all_epithelial(191;0.219)	OV - Ovarian serous cystadenocarcinoma(23;0.00778)|all cancers(16;0.00936)|Epithelial(46;0.0227)	Epithelial(152;0.02)|all cancers(159;0.0419)|OV - Ovarian serous cystadenocarcinoma(161;0.0521)		TCGCAGGAGATGCAGCACAGG	0.642																																						ENST00000329797.3																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)	18						c.(406-408)Atc>Ttc		G protein-coupled receptor 132							140	121	127					14																	105518068		2203	4300	6503	SO:0001583	missense	29933				response to stress	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr14:105518068T>A	AF083955	CCDS9997.1, CCDS61567.1	14q32.3	2012-08-21			ENSG00000183484	ENSG00000183484		"GPCR / Class A : Orphans"	17482	protein-coding gene	gene with protein product	"G2 accumulation"	606167				12086852	Standard	NM_013345		Approved	G2A	uc001yqd.3	Q9UNW8	OTTHUMG00000140173	ENST00000329797.3:c.406A>T	14.37:g.105518068T>A	ENSP00000328818:p.Ile136Phe					GPR132_ENST00000546679.1_5'UTR|GPR132_ENST00000539291.2_Missense_Mutation_p.I136F|GPR132_ENST00000392585.2_Missense_Mutation_p.I127F	p.I136F	NM_013345.2	NP_037477.1	Q9UNW8	GP132_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.00778)|all cancers(16;0.00936)|Epithelial(46;0.0227)	Epithelial(152;0.02)|all cancers(159;0.0419)|OV - Ovarian serous cystadenocarcinoma(161;0.0521)	4	1317	-		all_cancers(154;0.0953)|Melanoma(154;0.155)|all_epithelial(191;0.219)	136					A8K7X7|B4E144|Q9BSU2	Missense_Mutation	SNP	ENST00000329797.3	37	c.406A>T	CCDS9997.1	.	.	.	.	.	.	.	.	.	.	T	22.3	4.269751	0.80469	.	.	ENSG00000183484	ENST00000329797;ENST00000392585;ENST00000539291	T;T;T	0.81247	-1.47;-1.47;-1.47	4.83	-0.343	0.12632	GPCR, rhodopsin-like superfamily (1);	0.069306	0.64402	D	0.000015	D	0.89305	0.6677	M	0.92555	3.32	0.53005	D	0.999961	D;D	0.76494	0.999;0.999	D;D	0.72982	0.979;0.979	D	0.86552	0.1835	10	0.62326	D	0.03	.	8.3448	0.32266	0.0:0.3654:0.0:0.6346	.	127;136	B4E144;Q9UNW8	.;GP132_HUMAN	F	136;127;136	ENSP00000328818:I136F;ENSP00000376364:I127F;ENSP00000438094:I136F	ENSP00000328818:I136F	I	-	1	0	GPR132	104589113	0.835000	0.29415	0.981000	0.43875	0.967000	0.64934	-0.103000	0.10940	-0.336000	0.08438	-0.521000	0.04368	ATC		0.642	GPR132-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409278.1	NM_013345		21	166	0	0	0	1	0	21	166					A	105518068	T	A	105518068	3	1	263	1	0	0	0	0	1	0	0	0	6642	1464	51	5	740	5	GPR132	14	105518068	Missense_Mutation	SNP	T	TCGA-J4-8200-01A-11D-A29Q-08	52581210	105518068	1831472	20	12355											
SLFN11	91607	broad.mit.edu	37	chr17	33679579	33679579	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gcatcactgagctgcaccacCcttttcttcctcattgcttt	6	15	5	15	0	3	1	2	1	1	0	4	1	4	1	3	0	3	4	3	0	0	5			TCGA-J4-8200-01A-11D-A29Q-08	TCGA-J4-8200-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0045d518-7b93-44b2-bb7b-dc11c85b3c93	e0bbf450-eb07-4a04-bfb5-5d1a5e885209	g.chr17:33679579C>A	ENST00000394566.1	-	7	2774	c.2502G>T	c.(2500-2502)agG>agT	p.R834S	SLFN11_ENST00000308377.4_Missense_Mutation_p.R834S	NM_001104587.1|NM_001104588.1|NM_001104589.1|NM_001104590.1	NP_001098057.1|NP_001098058.1|NP_001098059.1|NP_001098060.1	Q7Z7L1	SLN11_HUMAN	schlafen family member 11	834					defense response to virus (GO:0051607)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|tRNA binding (GO:0000049)			autonomic_ganglia(1)|breast(1)|kidney(3)|large_intestine(14)|lung(17)|ovary(1)|prostate(4)|skin(2)|stomach(5)|upper_aerodigestive_tract(2)	50		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		GCTGCACCACCCTTTTCTTCC	0.473																																						ENST00000394566.1																			0				autonomic_ganglia(1)|breast(1)|kidney(3)|large_intestine(14)|lung(17)|ovary(1)|prostate(4)|skin(2)|stomach(5)|upper_aerodigestive_tract(2)	50						c.(2500-2502)agG>agT		schlafen family member 11							235	202	213					17																	33679579		2203	4300	6503	SO:0001583	missense	91607					nucleus	ATP binding	g.chr17:33679579C>A	AK074184	CCDS11294.1	17q12	2006-04-05			ENSG00000172716	ENSG00000172716			26633	protein-coding gene	gene with protein product		614953				12477932	Standard	NM_001104587		Approved	FLJ34922	uc010ctr.3	Q7Z7L1	OTTHUMG00000132948	ENST00000394566.1:c.2502G>T	17.37:g.33679579C>A	ENSP00000378067:p.Arg834Ser					SLFN11_ENST00000308377.4_Missense_Mutation_p.R834S	p.R834S	NM_001104587.1|NM_001104588.1|NM_001104589.1|NM_001104590.1	NP_001098057.1|NP_001098058.1|NP_001098059.1|NP_001098060.1	Q7Z7L1	SLN11_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)	7	2774	-		Ovarian(249;0.17)	834					E1P643|Q8N3S8|Q8N762|Q8TEE0	Missense_Mutation	SNP	ENST00000394566.1	37	c.2502G>T	CCDS11294.1	.	.	.	.	.	.	.	.	.	.	c	8.587	0.883740	0.17467	.	.	ENSG00000172716	ENST00000308377;ENST00000394566	T;T	0.01998	4.51;4.51	3.91	0.256	0.15567	.	0.485335	0.17203	N	0.183048	T	0.01976	0.0062	L	0.52905	1.665	0.09310	N	1	B	0.31227	0.314	B	0.29716	0.106	T	0.45702	-0.9243	10	0.11182	T	0.66	.	2.9258	0.05784	0.2069:0.5168:0.0:0.2763	.	834	Q7Z7L1	SLN11_HUMAN	S	834	ENSP00000312402:R834S;ENSP00000378067:R834S	ENSP00000312402:R834S	R	-	3	2	SLFN11	30703692	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-1.697000	0.01910	-0.030000	0.13804	-0.140000	0.14226	AGG		0.473	SLFN11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256480.1	NM_152270		7	134	1	0	8.12818e-05	1	9.48288e-05	7	134					A	33679579	C	A	33679579	3	1	263	1	0	0	0	0	1	0	0	0	14733	622	22	5	207	5	SLFN11	17	33679579	Missense_Mutation	SNP	C	TCGA-J4-8200-01A-11D-A29Q-08		33679579	47515631	21	12356											
ERBB2	2064	broad.mit.edu	37	chr17	37879658	37879658	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgggatcctcatcaagcgacGgcagcagaagatccggaagt	12	6	13	10	3	2	2	2	0	0	2	4	5	4	4	2	3	2	2	2	3	3	0			TCGA-J4-8200-01A-11D-A29Q-08	TCGA-J4-8200-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0045d518-7b93-44b2-bb7b-dc11c85b3c93	e0bbf450-eb07-4a04-bfb5-5d1a5e885209	g.chr17:37879658G>A	ENST00000269571.5	+	17	2192	c.2033G>A	c.(2032-2034)cGg>cAg	p.R678Q	ERBB2_ENST00000584601.1_Missense_Mutation_p.R648Q|ERBB2_ENST00000445658.2_Missense_Mutation_p.R402Q|ERBB2_ENST00000540147.1_Missense_Mutation_p.R648Q|ERBB2_ENST00000406381.2_Missense_Mutation_p.R648Q|ERBB2_ENST00000584450.1_Missense_Mutation_p.R678Q|ERBB2_ENST00000541774.1_Missense_Mutation_p.R663Q			P04626	ERBB2_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2	678	Nuclear localization signal.|Required for interaction with KPNB1 and EEA1.				axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|enzyme linked receptor protein signaling pathway (GO:0007167)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|motor neuron axon guidance (GO:0008045)|myelination (GO:0042552)|negative regulation of immature T cell proliferation in thymus (GO:0033088)|neuromuscular junction development (GO:0007528)|neurotrophin TRK receptor signaling pathway (GO:0048011)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine phosphorylation (GO:0018108)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell growth (GO:0030307)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of transcription from RNA polymerase I promoter (GO:0045943)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of angiogenesis (GO:0045765)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of microtubule-based process (GO:0032886)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|transcription, DNA-templated (GO:0006351)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|ErbB-3 class receptor binding (GO:0043125)|identical protein binding (GO:0042802)|protein C-terminus binding (GO:0008022)|protein dimerization activity (GO:0046983)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|RNA polymerase I core binding (GO:0001042)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4)	247	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	ado-trastuzumab emtansine(DB05773)|Afatinib(DB08916)|Lapatinib(DB01259)|Pertuzumab(DB06366)|Trastuzumab(DB00072)	ATCAAGCGACGGCAGCAGAAG	0.637		1	"A, Mis, O"		"breast, ovarian, other tumour types, NSCLC, gastric"					TCGA GBM(5;<1E-08)																												ENST00000406381.2		1		Dom	yes		17	17q21.1	2064	"A, Mis, O"	"v-erb-b2 erythroblastic leukemia viral oncogene homolog 2, neuro/glioblastoma derived oncogene homolog (avian)"			E			"breast, ovarian, other tumour types, NSCLC, gastric"		0				NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4)	247						c.(1942-1944)cGg>cAg		v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2	Lapatinib(DB01259)|Letrozole(DB01006)|Trastuzumab(DB00072)						110	103	105					17																	37879658		2203	4300	6503	SO:0001583	missense	2064				cell proliferation|heart development|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of cell adhesion|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|protein autophosphorylation|regulation of angiogenesis|regulation of microtubule-based process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|wound healing	integral to membrane|nucleus|perinuclear region of cytoplasm|receptor complex	ATP binding|DNA binding|epidermal growth factor receptor activity|ErbB-3 class receptor binding|identical protein binding|protein C-terminus binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	g.chr17:37879658G>A	X03363	CCDS32642.1, CCDS45667.1, CCDS74052.1	17q11.2-q12	2014-09-17	2013-07-09			ENSG00000141736		"CD molecules"	3430	protein-coding gene	gene with protein product	"neuro/glioblastoma derived oncogene homolog"	164870	"v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2 (neuro/glioblastoma derived oncogene homolog)"	NGL			Standard	XM_005257140		Approved	NEU, HER-2, CD340, HER2	uc002hso.3	P04626		ENST00000269571.5:c.2033G>A	17.37:g.37879658G>A	ENSP00000269571:p.Arg678Gln	TCGA GBM(5;<1E-08)				ERBB2_ENST00000541774.1_Missense_Mutation_p.R663Q|ERBB2_ENST00000540147.1_Missense_Mutation_p.R648Q|ERBB2_ENST00000584601.1_Missense_Mutation_p.R648Q|ERBB2_ENST00000445658.2_Missense_Mutation_p.R402Q|ERBB2_ENST00000269571.5_Missense_Mutation_p.R678Q|ERBB2_ENST00000584450.1_Missense_Mutation_p.R678Q	p.R648Q	NM_001005862.1	NP_001005862.1	P04626	ERBB2_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	19	2453	+	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	678					B2RZG3|B4DHN3|Q14256|Q6LDV1|Q9UMK4|X5D2V5	Missense_Mutation	SNP	ENST00000269571.5	37	c.1943G>A	CCDS32642.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.952183	0.73787	.	.	ENSG00000141736	ENST00000406381;ENST00000541774;ENST00000445658;ENST00000269571;ENST00000540147	T;T;T;T;T	0.79141	-1.23;-1.24;-1.22;-1.24;-1.23	4.97	4.97	0.65823	Cytochrome c1, transmembrane anchor, C-terminal (1);	.	.	.	.	T	0.68742	0.3034	L	0.41710	1.295	0.80722	D	1	P;B;P	0.39003	0.654;0.043;0.654	B;B;B	0.29524	0.103;0.02;0.103	T	0.73285	-0.4031	9	0.52906	T	0.07	.	17.8613	0.88781	0.0:0.0:1.0:0.0	.	402;663;678	B4DTR1;P04626-4;P04626	.;.;ERBB2_HUMAN	Q	648;663;402;678;648	ENSP00000385185:R648Q;ENSP00000446466:R663Q;ENSP00000404047:R402Q;ENSP00000269571:R678Q;ENSP00000443562:R648Q	ENSP00000269571:R678Q	R	+	2	0	ERBB2	35133184	1.000000	0.71417	0.980000	0.43619	0.888000	0.51559	6.363000	0.73082	2.317000	0.78254	0.561000	0.74099	CGG		0.637	ERBB2-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445621.2			39	76	0	0	0	1	0	39	76					A	37879658	G	A	37879658	3	1	263	1	0	0	0	0	1	0	0	0	5206	1116	39	2	2099	2	ERBB2	17	37879658	Missense_Mutation	SNP	G	TCGA-J4-8200-01A-11D-A29Q-08	4200079	37879658	43315552	22	12357											
LIMD2	80774	broad.mit.edu	37	chr17	61776290	61776290	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tccttcacctgggcccgcagGctgaaggactgtgcgggaag	7	7	15	12	2	1	1	1	1	0	0	2	3	2	3	3	4	1	2	3	4	2	1			TCGA-J4-8200-01A-11D-A29Q-08	TCGA-J4-8200-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0045d518-7b93-44b2-bb7b-dc11c85b3c93	e0bbf450-eb07-4a04-bfb5-5d1a5e885209	g.chr17:61776290G>A	ENST00000259006.3	-	4	251	c.93C>T	c.(91-93)agC>agT	p.S31S	LIMD2_ENST00000578993.1_Intron|LIMD2_ENST00000582055.1_5'UTR|LIMD2_ENST00000578061.1_Silent_p.S31S|LIMD2_ENST00000578402.1_Silent_p.S31S|LIMD2_ENST00000583211.1_5'UTR	NM_030576.3	NP_085053.1	Q9BT23	LIMD2_HUMAN	LIM domain containing 2	31							zinc ion binding (GO:0008270)			kidney(1)|lung(2)	3						GGGCCCGCAGGCTGAAGGACT	0.662																																						ENST00000259006.3																			0				kidney(1)|lung(2)	3						c.(91-93)agC>agT		LIM domain containing 2							52	54	53					17																	61776290		2203	4300	6503	SO:0001819	synonymous_variant	80774						zinc ion binding	g.chr17:61776290G>A	AK092301	CCDS11641.1	17q23.3	2006-02-03				ENSG00000136490			28142	protein-coding gene	gene with protein product						12477932	Standard	NM_030576		Approved	MGC10986	uc002jbj.4	Q9BT23		ENST00000259006.3:c.93C>T	17.37:g.61776290G>A						LIMD2_ENST00000583211.1_5'UTR|LIMD2_ENST00000578061.1_Silent_p.S31S|LIMD2_ENST00000582055.1_5'UTR|LIMD2_ENST00000578993.1_Intron|LIMD2_ENST00000578402.1_Silent_p.S31S	p.S31S	NM_030576.3	NP_085053.1	Q9BT23	LIMD2_HUMAN			4	251	-			31					D3DU16|Q96S91	Silent	SNP	ENST00000259006.3	37	c.93C>T	CCDS11641.1																																																																																				0.662	LIMD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443877.1	NM_030576		5	93	0	0	0	1	0	5	93					A	61776290	G	A	61776290	2	1	263	1	0	0	0	0	0	0	0	1	8799	1194	42	3		3	LIMD2	17	61776290	Silent	SNP	G	TCGA-J4-8200-01A-11D-A29Q-08	23896632	61776290	19418920	23	12358											
ADORA2A	135	broad.mit.edu	37	chr22	24837228	24837228	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggagagcaggtcagcctccGtctcaacggccacccgccag	8	4	12	17	4	2	1	2	0	1	1	4	2	3	1	5	3	3	1	5	3	1	0			TCGA-J4-8200-01A-11D-A29Q-08	TCGA-J4-8200-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0045d518-7b93-44b2-bb7b-dc11c85b3c93	e0bbf450-eb07-4a04-bfb5-5d1a5e885209	g.chr22:24837228G>A	ENST00000337539.7	+	3	1469	c.1010G>A	c.(1009-1011)cGt>cAt	p.R337H	ADORA2A-AS1_ENST00000427813.2_RNA|SPECC1L-ADORA2A_ENST00000358654.2_3'UTR|ADORA2A-AS1_ENST00000326341.4_RNA|ADORA2A-AS1_ENST00000543438.1_RNA	NM_000675.4|NM_001278497.1|NM_001278498.1|NM_001278499.1|NM_001278500.1	NP_000666.2|NP_001265426.1|NP_001265427.1|NP_001265428.1|NP_001265429.1	P29274	AA2AR_HUMAN	adenosine A2a receptor	337					activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|apoptotic process (GO:0006915)|blood circulation (GO:0008015)|blood coagulation (GO:0007596)|cAMP biosynthetic process (GO:0006171)|cell-cell signaling (GO:0007267)|cellular defense response (GO:0006968)|central nervous system development (GO:0007417)|inflammatory response (GO:0006954)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phagocytosis (GO:0006909)|positive regulation of adenylate cyclase activity involved in G-protein coupled receptor signaling pathway (GO:0010579)|sensory perception (GO:0007600)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|G-protein coupled adenosine receptor activity (GO:0001609)|identical protein binding (GO:0042802)			breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(1)|lung(7)|skin(1)	21	Colorectal(2;0.196)				Adenosine(DB00640)|Caffeine(DB00201)|Defibrotide(DB04932)|Dyphylline(DB00651)|Enprofylline(DB00824)|Mefloquine(DB00358)|Oxtriphylline(DB01303)|Pentoxifylline(DB00806)|Regadenoson(DB06213)|Theobromine(DB01412)|Theophylline(DB00277)	GTCAGCCTCCGTCTCAACGGC	0.662																																						ENST00000337539.7																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(1)|lung(7)|skin(1)	21						c.(1009-1011)cGt>cAt		adenosine A2a receptor	Caffeine(DB00201)|Defibrotide(DB04932)|Pegademase bovine(DB00061)|Theophylline(DB00277)						32	26	28					22																	24837228		2203	4300	6503	SO:0001583	missense	135				apoptosis|blood coagulation|cAMP biosynthetic process|cellular defense response|inflammatory response|nerve growth factor receptor signaling pathway|phagocytosis|sensory perception	integral to plasma membrane|membrane fraction	enzyme binding	g.chr22:24837228G>A	X68486	CCDS13826.1	22q11.23	2012-08-08			ENSG00000128271	ENSG00000128271		"GPCR / Class A : Adenosine receptors"	263	protein-coding gene	gene with protein product		102776		ADORA2		1662665, 2541503	Standard	NM_001278497		Approved	RDC8	uc002zzy.4	P29274	OTTHUMG00000150761	ENST00000337539.7:c.1010G>A	22.37:g.24837228G>A	ENSP00000336630:p.Arg337His					ADORA2A-AS1_ENST00000543438.1_RNA|ADORA2A-AS1_ENST00000427813.2_RNA|KB-1896H10.1_ENST00000358654.2_3'UTR|ADORA2A-AS1_ENST00000326341.4_RNA	p.R337H	NM_000675.4|NM_001278497.1|NM_001278498.1|NM_001278499.1|NM_001278500.1	NP_000666.2|NP_001265426.1|NP_001265427.1|NP_001265428.1|NP_001265429.1	P29274	AA2AR_HUMAN			3	1469	+	Colorectal(2;0.196)		337					B2R7E0	Missense_Mutation	SNP	ENST00000337539.7	37	c.1010G>A	CCDS13826.1	.	.	.	.	.	.	.	.	.	.	G	19.83	3.899475	0.72754	.	.	ENSG00000128271	ENST00000444262;ENST00000541988;ENST00000337539;ENST00000417596	T;T	0.66280	-0.15;-0.2	4.95	3.93	0.45458	.	0.094039	0.37348	N	0.002127	T	0.57844	0.2081	M	0.63843	1.955	0.35271	D	0.78043	B	0.20988	0.05	B	0.15052	0.012	T	0.64097	-0.6487	10	0.39692	T	0.17	-31.5534	12.6837	0.56936	0.0803:0.0:0.9197:0.0	.	337	P29274	AA2AR_HUMAN	H	337	ENSP00000414802:R337H;ENSP00000336630:R337H	ENSP00000336630:R337H	R	+	2	0	ADORA2A	23167228	0.782000	0.28689	0.991000	0.47740	0.906000	0.53458	4.567000	0.60850	1.230000	0.43646	0.462000	0.41574	CGT		0.662	ADORA2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319971.2	NM_000675		6	21	0	0	0	1	0	6	21					A	24837228	G	A	24837228	3	1	263	1	0	0	0	0	1	0	0	0	327	1145	40	1	1016	1	ADORA2A	22	24837228	Missense_Mutation	SNP	G	TCGA-J4-8200-01A-11D-A29Q-08		24837228	26467338	24	12359											
ALDH4A1	8659	broad.mit.edu	37	chr1	19203914	19203914	+	Frame_Shift_Del	DEL	C	C	-																															tgacggtgccactcacgtcgCccactttgatccgactgtgc																										TCGA-J4-A67K-01A-21D-A30E-08	TCGA-J4-A67K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68e09db6-a35c-43fc-ac1f-c5b66bb3ae2b	838d6528-8be3-48aa-887b-614a711bddf4	g.chr1:19203914delC	ENST00000375341.3	-	10	1390	c.1133delG	c.(1132-1134)ggcfs	p.G378fs	RP13-279N23.2_ENST00000494072.3_3'UTR|ALDH4A1_ENST00000538309.1_Frame_Shift_Del_p.G318fs|ALDH4A1_ENST00000538839.1_Frame_Shift_Del_p.G378fs|ALDH4A1_ENST00000290597.5_Frame_Shift_Del_p.G378fs	NM_003748.3	NP_003739.2	P30038	AL4A1_HUMAN	aldehyde dehydrogenase 4 family, member A1	378					4-hydroxyproline catabolic process (GO:0019470)|cellular nitrogen compound metabolic process (GO:0034641)|glutamate biosynthetic process (GO:0006537)|proline biosynthetic process (GO:0006561)|proline catabolic process (GO:0006562)|proline catabolic process to glutamate (GO:0010133)|proline metabolic process (GO:0006560)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)	1-pyrroline-5-carboxylate dehydrogenase activity (GO:0003842)|aldehyde dehydrogenase (NAD) activity (GO:0004029)|electron carrier activity (GO:0009055)|identical protein binding (GO:0042802)			cervix(2)|endometrium(1)|large_intestine(3)|lung(8)|prostate(1)	15		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00479)|BRCA - Breast invasive adenocarcinoma(304;3.67e-05)|Kidney(64;0.000182)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		ACTCACGTCGCCCACTTTGAT	0.701																																						ENST00000375341.3																			0				cervix(2)|endometrium(1)|large_intestine(3)|lung(8)|prostate(1)	15						c.(1132-1134)gcfs		aldehyde dehydrogenase 4 family, member A1	NADH(DB00157)						23	24	24					1																	19203914		2197	4286	6483	SO:0001589	frameshift_variant	8659				proline biosynthetic process|proline catabolic process	mitochondrial matrix	1-pyrroline-5-carboxylate dehydrogenase activity|aldehyde dehydrogenase (NAD) activity|electron carrier activity	g.chr1:19203914delC	U24266	CCDS188.1, CCDS53272.1	1p36	2008-02-05			ENSG00000159423	ENSG00000159423	1.5.1.12	"Aldehyde dehydrogenases"	406	protein-coding gene	gene with protein product		606811		ALDH4		8621661	Standard	NM_003748		Approved	P5CDh	uc001bbc.3	P30038	OTTHUMG00000002443	ENST00000375341.3:c.1133delG	1.37:g.19203914delC	ENSP00000364490:p.Gly378fs					ALDH4A1_ENST00000290597.5_Frame_Shift_Del_p.G378fs|ALDH4A1_ENST00000538839.1_Frame_Shift_Del_p.G378fs|ALDH4A1_ENST00000538309.1_Frame_Shift_Del_p.G318fs|RP13-279N23.2_ENST00000494072.3_3'UTR	p.G378fs	NM_003748.3	NP_003739.2	P30038	AL4A1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00479)|BRCA - Breast invasive adenocarcinoma(304;3.67e-05)|Kidney(64;0.000182)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	10	1390	-		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)	378					A8K1Q7|B4DGE4|D2D4A3|Q16882|Q53HU4|Q5JNV6|Q8IZ38|Q96IF0|Q9UDI6	Frame_Shift_Del	DEL	ENST00000375341.3	37	c.1133delG	CCDS188.1																																																																																				0.701	ALDH4A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006954.1			2	4						2	4	---	---	---	---	-	19203914	C	-	19203914	7	5	264	1	0	1	0	1	0	0	0	0	501	739	26	0	582	0	ALDH4A1	1	19203914	Frame_Shift_Del	DEL	C	TCGA-J4-A67K-01A-21D-A30E-08		19203914	230046707	1	12360											
FAM176B	55194	broad.mit.edu	37	chr1	36788016	36788016	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcaggatccgttcgcgctcCtccagccgctgcgcccgctc	3	7	11	20	7	0	0	0	0	0	0	5	1	3	1	5	1	2	5	5	1	0	1			TCGA-J4-A67K-01A-21D-A30E-08	TCGA-J4-A67K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68e09db6-a35c-43fc-ac1f-c5b66bb3ae2b	838d6528-8be3-48aa-887b-614a711bddf4	g.chr1:36788016C>T	ENST00000270824.1	-	3	669	c.378G>A	c.(376-378)gaG>gaA	p.E126E	RP11-268J15.5_ENST00000373137.2_5'Flank|SH3D21_ENST00000474766.1_3'UTR|EVA1B_ENST00000490466.1_5'UTR	NM_018166.1	NP_060636.1	Q9NVM1	EVA1B_HUMAN	eva-1 homolog B (C. elegans)	126						integral component of membrane (GO:0016021)											GTTCGCGCTCCTCCAGCCGCT	0.746																																						ENST00000270824.1																			0											c.(376-378)gaG>gaA		eva-1 homolog B (C. elegans)							11	13	13					1																	36788016		2109	4147	6256	SO:0001819	synonymous_variant	55194							g.chr1:36788016C>T	AK001509	CCDS406.1	1p34.3	2012-11-05	2012-11-05	2012-11-05	ENSG00000142694	ENSG00000142694			25558	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 78", "family with sequence similarity 176, member B"	C1orf78, FAM176B		14702039	Standard	XM_005270998		Approved	FLJ10647	uc001caj.1	Q9NVM1	OTTHUMG00000007867	ENST00000270824.1:c.378G>A	1.37:g.36788016C>T						EVA1B_ENST00000490466.1_5'UTR|SH3D21_ENST00000474766.1_3'UTR	p.E126E	NM_018166.1	NP_060636.1					3	669	-								D3DPS7	Silent	SNP	ENST00000270824.1	37	c.378G>A	CCDS406.1																																																																																				0.746	EVA1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021689.1	NM_018166		6	20	0	0	0	1	0	6	20					T	36788016	C	T	36788016	2	4	264	1	0	0	0	0	0	0	0	1	5500	680	24	3		3	FAM176B	1	36788016	Silent	SNP	C	TCGA-J4-A67K-01A-21D-A30E-08	17584102	36788016	212462605	2	12361											
LASS2	29956	broad.mit.edu	37	chr1	150938748	150938748	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctgtttcttcccggtcactgCgttcatcttctaccagctgt	4	16	7	14	2	5	0	2	0	3	0	6	0	6	0	2	1	3	3	2	1	1	5			TCGA-J4-A67K-01A-21D-A30E-08	TCGA-J4-A67K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68e09db6-a35c-43fc-ac1f-c5b66bb3ae2b	838d6528-8be3-48aa-887b-614a711bddf4	g.chr1:150938748C>T	ENST00000271688.6	-	11	1405	c.1019G>A	c.(1018-1020)cGc>cAc	p.R340H	RP11-316M1.12_ENST00000560481.1_RNA|RP11-316M1.12_ENST00000561111.1_RNA|CERS2_ENST00000368954.5_Missense_Mutation_p.R340H|CERS2_ENST00000345896.4_5'UTR|CERS2_ENST00000561294.1_Intron	NM_181746.3	NP_859530.1	Q96G23	CERS2_HUMAN	ceramide synthase 2	340					ceramide biosynthetic process (GO:0046513)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear membrane (GO:0031965)	DNA binding (GO:0003677)|sphingosine N-acyltransferase activity (GO:0050291)										CCGGTCACTGCGTTCATCTTC	0.542																																						ENST00000271688.6																			0											c.(1018-1020)cGc>cAc		ceramide synthase 2							74	70	72					1																	150938748		2203	4300	6503	SO:0001583	missense	29956					endoplasmic reticulum membrane|integral to membrane|nuclear membrane	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sphingosine N-acyltransferase activity	g.chr1:150938748C>T	AF189062	CCDS973.1	1q21.3	2012-09-20	2011-07-08	2011-07-08	ENSG00000143418	ENSG00000143418		"Homeoboxes / CERS class"	14076	protein-coding gene	gene with protein product		606920	"longevity assurance (LAG1, S. cerevisiae) homolog 2", "LAG1 longevity assurance homolog 2 (S. cerevisiae)", "LAG1 homolog, ceramide synthase 2"	LASS2		11543633	Standard	NM_181746		Approved	SP260, FLJ10243	uc001evz.3	Q96G23	OTTHUMG00000035064	ENST00000271688.6:c.1019G>A	1.37:g.150938748C>T	ENSP00000271688:p.Arg340His					CERS2_ENST00000368954.5_Missense_Mutation_p.R340H|CERS2_ENST00000561294.1_Intron|CERS2_ENST00000345896.4_5'UTR	p.R340H	NM_181746.3	NP_859530.1	Q96G23	CERS2_HUMAN			11	1405	-			340					D3DV06|Q5SZE5|Q9HD96|Q9NW79	Missense_Mutation	SNP	ENST00000271688.6	37	c.1019G>A	CCDS973.1	.	.	.	.	.	.	.	.	.	.	C	29.9	5.046949	0.93740	.	.	ENSG00000143418	ENST00000368954;ENST00000271688;ENST00000345896	T;T;T	0.37058	2.21;2.21;1.22	5.54	5.54	0.83059	.	0.066462	0.49916	D	0.000124	T	0.71143	0.3305	H	0.96604	3.85	0.80722	D	1	D	0.76494	0.999	D	0.76071	0.987	T	0.80650	-0.1288	10	0.87932	D	0	-2.4951	19.2866	0.94077	0.0:1.0:0.0:0.0	.	340	Q96G23	CERS2_HUMAN	H	340;340;190	ENSP00000357950:R340H;ENSP00000271688:R340H;ENSP00000337842:R190H	ENSP00000271688:R340H	R	-	2	0	CERS2	149205372	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.858000	0.75461	2.884000	0.98904	0.655000	0.94253	CGC		0.542	CERS2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084897.2	NM_022075		25	62	0	0	0	1	0	25	62					T	150938748	C	T	150938748	3	4	264	1	0	0	0	0	1	0	0	0	8639	768	27	1	127	1	LASS2	1	150938748	Missense_Mutation	SNP	C	TCGA-J4-A67K-01A-21D-A30E-08	114150732	150938748	98311873	3	12362											
RXRG	6258	broad.mit.edu	37	chr1	165414095	165414095	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tacttacctccatagcctgcGggaaacttcatgaagtgaga	12	10	9	10	1	1	2	1	2	0	1	2	4	2	3	3	1	5	0	3	1	5	4			TCGA-J4-A67K-01A-21D-A30E-08	TCGA-J4-A67K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68e09db6-a35c-43fc-ac1f-c5b66bb3ae2b	838d6528-8be3-48aa-887b-614a711bddf4	g.chr1:165414095G>T	ENST00000359842.5	-	1	338	c.36C>A	c.(34-36)ccC>ccA	p.P12P		NM_001256570.1|NM_006917.4	NP_001243499.1|NP_008848.1	P48443	RXRG_HUMAN	retinoid X receptor, gamma	12	Modulating. {ECO:0000250}.				gene expression (GO:0010467)|heart development (GO:0007507)|neuron differentiation (GO:0030182)|peripheral nervous system development (GO:0007422)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of myelination (GO:0031641)|response to retinoic acid (GO:0032526)|skeletal muscle tissue development (GO:0007519)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)	9-cis retinoic acid receptor activity (GO:0004886)|sequence-specific DNA binding (GO:0043565)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(3)|large_intestine(6)|lung(22)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	38	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)				Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Bexarotene(DB00307)|Tretinoin(DB00755)	CATAGCCTGCGGGAAACTTCA	0.448																																						ENST00000359842.5																			0				endometrium(1)|kidney(3)|large_intestine(6)|lung(22)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	38						c.(34-36)ccC>ccA		retinoid X receptor, gamma	Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tretinoin(DB00755)						150	130	137					1																	165414095		2203	4300	6503	SO:0001819	synonymous_variant	6258				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding	g.chr1:165414095G>T	U38480	CCDS1248.1, CCDS72970.1	1q22-q23	2013-01-16			ENSG00000143171	ENSG00000143171		"Nuclear hormone receptors"	10479	protein-coding gene	gene with protein product	"nuclear receptor subfamily 2 group B member 3"	180247				8034312	Standard	NR_033824		Approved	NR2B3	uc001gda.3	P48443	OTTHUMG00000034626	ENST00000359842.5:c.36C>A	1.37:g.165414095G>T							p.P12P	NM_001256570.1|NM_006917.4	NP_001243499.1|NP_008848.1	P48443	RXRG_HUMAN			1	338	-	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)		12			Modulating (By similarity).		A6NIP1|Q6IBU7	Silent	SNP	ENST00000359842.5	37	c.36C>A	CCDS1248.1																																																																																				0.448	RXRG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083794.2	NM_006917		8	44	1	0	1.26484e-09	1	1.3966e-09	8	44					T	165414095	G	T	165414095	2	4	264	1	0	0	0	0	0	0	0	1	13765	1103	39	5		5	RXRG	1	165414095	Silent	SNP	G	TCGA-J4-A67K-01A-21D-A30E-08	14475347	165414095	83836526	4	12363											
APOB	338	broad.mit.edu	37	chr2	21232902	21232902	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttttaactttccagctaggtGctggatgtctatattctgta	8	18	8	7	0	2	0	0	0	2	0	3	1	3	1	1	2	3	3	1	2	5	8			TCGA-J4-A67K-01A-21D-A30E-08	TCGA-J4-A67K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68e09db6-a35c-43fc-ac1f-c5b66bb3ae2b	838d6528-8be3-48aa-887b-614a711bddf4	g.chr2:21232902G>A	ENST00000233242.1	-	26	6965	c.6838C>T	c.(6838-6840)Cac>Tac	p.H2280Y		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	2280					artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCAGCTAGGTGCTGGATGTCT	0.348																																						ENST00000233242.1																			0				NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305						c.(6838-6840)Cac>Tac		apolipoprotein B	Atorvastatin(DB01076)						147	142	144					2																	21232902		2203	4300	6503	SO:0001583	missense	338				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	g.chr2:21232902G>A	M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"Apolipoproteins"	603	protein-coding gene	gene with protein product		107730	"apolipoprotein B (including Ag(x) antigen)"				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.6838C>T	2.37:g.21232902G>A	ENSP00000233242:p.His2280Tyr						p.H2280Y	NM_000384.2	NP_000375.2	P04114	APOB_HUMAN			26	6965	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		2280					O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Missense_Mutation	SNP	ENST00000233242.1	37	c.6838C>T	CCDS1703.1	.	.	.	.	.	.	.	.	.	.	G	2.999	-0.206401	0.06180	.	.	ENSG00000084674	ENST00000233242;ENST00000535079	T	0.00711	5.8	5.76	-0.97	0.10306	.	1.193380	0.05829	N	0.617277	T	0.00875	0.0029	L	0.51422	1.61	0.09310	N	0.999999	B	0.12630	0.006	B	0.06405	0.002	T	0.50154	-0.8861	10	0.13470	T	0.59	.	3.9578	0.09398	0.1188:0.2634:0.4207:0.1971	.	2280	P04114	APOB_HUMAN	Y	2280	ENSP00000233242:H2280Y	ENSP00000233242:H2280Y	H	-	1	0	APOB	21086407	0.000000	0.05858	0.139000	0.22197	0.217000	0.24651	-0.244000	0.08903	0.044000	0.15775	0.561000	0.74099	CAC		0.348	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1			39	89	0	0	0	1	0	39	89					A	21232902	G	A	21232902	3	1	264	1	0	0	0	0	1	0	0	0	785	1319	46	3	6869	3	APOB	2	21232902	Missense_Mutation	SNP	G	TCGA-J4-A67K-01A-21D-A30E-08		21232902	221966471	5	12364											
HTR2B	3357	broad.mit.edu	37	chr2	231988403	231988403	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agaccagttagaagagataaCgtgaacaaaggtgctctgca	16	7	11	7	1	1	4	0	1	1	3	1	5	1	4	1	1	4	3	1	1	5	2			TCGA-J4-A67K-01A-21D-A30E-08	TCGA-J4-A67K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68e09db6-a35c-43fc-ac1f-c5b66bb3ae2b	838d6528-8be3-48aa-887b-614a711bddf4	g.chr2:231988403C>G	ENST00000258400.3	-	2	588	c.76G>C	c.(76-78)Gtt>Ctt	p.V26L	PSMD1_ENST00000409643.1_Intron|PSMD1_ENST00000373635.4_Intron|PSMD1_ENST00000308696.6_Intron	NM_000867.4	NP_000858.3	P41595	5HT2B_HUMAN	5-hydroxytryptamine (serotonin) receptor 2B, G protein-coupled	26					activation of phospholipase C activity (GO:0007202)|behavior (GO:0007610)|calcium-mediated signaling (GO:0019722)|cardiac muscle hypertrophy (GO:0003300)|cellular calcium ion homeostasis (GO:0006874)|cellular response to temperature stimulus (GO:0071502)|cGMP biosynthetic process (GO:0006182)|embryonic morphogenesis (GO:0048598)|ERK1 and ERK2 cascade (GO:0070371)|G-protein coupled receptor internalization (GO:0002031)|G-protein coupled receptor signaling pathway (GO:0007186)|heart morphogenesis (GO:0003007)|intestine smooth muscle contraction (GO:0014827)|negative regulation of apoptotic process (GO:0043066)|negative regulation of autophagy (GO:0010507)|negative regulation of cell death (GO:0060548)|neural crest cell differentiation (GO:0014033)|neural crest cell migration (GO:0001755)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphorylation (GO:0016310)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokine production (GO:0001819)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of phosphatidylinositol biosynthetic process (GO:0010513)|protein kinase C signaling (GO:0070528)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of behavior (GO:0050795)|release of sequestered calcium ion into cytosol (GO:0051209)|response to drug (GO:0042493)|serotonin receptor signaling pathway (GO:0007210)|vasoconstriction (GO:0042310)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)	drug binding (GO:0008144)|G-protein alpha-subunit binding (GO:0001965)|Ras GTPase activator activity (GO:0005099)|serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|urinary_tract(1)	11		Renal(207;0.025)|all_hematologic(139;0.094)|Acute lymphoblastic leukemia(138;0.164)|Medulloblastoma(418;0.232)		Epithelial(121;4.48e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0141)	Amoxapine(DB00543)|Apomorphine(DB00714)|Asenapine(DB06216)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Clomipramine(DB01242)|Dihydroergotamine(DB00320)|Doxepin(DB01142)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Ketamine(DB01221)|Lisuride(DB00589)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Pergolide(DB01186)|Pramipexole(DB00413)|Ropinirole(DB00268)|Triflupromazine(DB00508)|Yohimbine(DB01392)	GAAGAGATAACGTGAACAAAG	0.418																																					Ovarian(155;1331 1891 12853 14038 34991)	ENST00000258400.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|urinary_tract(1)	11						c.(76-78)Gtt>Ctt		5-hydroxytryptamine (serotonin) receptor 2B, G protein-coupled	Chlorprothixene(DB01239)|Eletriptan(DB00216)|Fenfluramine(DB00574)|Methotrimeprazine(DB01403)|Minaprine(DB00805)|Quetiapine(DB01224)|Sumatriptan(DB00669)|Tegaserod(DB01079)|Triflupromazine(DB00508)						167	160	162					2																	231988403		2203	4300	6503	SO:0001583	missense	3357				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cardiac muscle hypertrophy|cellular response to calcium ion|cellular response to temperature stimulus|cGMP biosynthetic process|embryonic morphogenesis|ERK1 and ERK2 cascade|G-protein coupled receptor internalization|heart morphogenesis|intestine smooth muscle contraction|negative regulation of apoptosis|negative regulation of autophagy|neural crest cell migration|phosphatidylinositol 3-kinase cascade|phosphatidylinositol biosynthetic process|phosphorylation|positive regulation of cell division|positive regulation of cytokine production|positive regulation of cytokine secretion|positive regulation of endothelial cell proliferation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAP kinase activity|positive regulation of nitric-oxide synthase activity|protein kinase C signaling cascade|regulation of behavior|release of sequestered calcium ion into cytosol|response to drug|vasoconstriction	cytoplasm|integral to membrane|plasma membrane	calcium channel activity|drug binding|G-protein alpha-subunit binding|phosphatidylinositol phospholipase C activity|Ras GTPase activator activity|serotonin binding|serotonin receptor activity	g.chr2:231988403C>G		CCDS2483.1	2q36.3-q37.1	2012-08-08	2012-02-03		ENSG00000135914	ENSG00000135914		"5-HT (serotonin) receptors", "GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"	5294	protein-coding gene	gene with protein product		601122	"5-hydroxytryptamine (serotonin) receptor 2B"			8143856	Standard	NM_000867		Approved	5-HT(2B), 5-HT2B	uc002vro.3	P41595	OTTHUMG00000133222	ENST00000258400.3:c.76G>C	2.37:g.231988403C>G	ENSP00000258400:p.Val26Leu					PSMD1_ENST00000308696.6_Intron|PSMD1_ENST00000373635.4_Intron|PSMD1_ENST00000409643.1_Intron	p.V26L	NM_000867.4	NP_000858.3	P41595	5HT2B_HUMAN		Epithelial(121;4.48e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0141)	2	588	-		Renal(207;0.025)|all_hematologic(139;0.094)|Acute lymphoblastic leukemia(138;0.164)|Medulloblastoma(418;0.232)	26					B2R9D5|Q53TI1|Q62221|Q6P523	Missense_Mutation	SNP	ENST00000258400.3	37	c.76G>C	CCDS2483.1	.	.	.	.	.	.	.	.	.	.	C	0.031	-1.332186	0.01298	.	.	ENSG00000135914	ENST00000258400	T	0.58358	0.34	5.52	1.9	0.25705	.	0.474536	0.19227	N	0.119516	T	0.10981	0.0268	N	0.00170	-1.935	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.38134	-0.9675	10	0.02654	T	1	.	4.6941	0.12795	0.6606:0.1674:0.172:0.0	.	26	P41595	5HT2B_HUMAN	L	26	ENSP00000258400:V26L	ENSP00000258400:V26L	V	-	1	0	HTR2B	231696647	0.332000	0.24722	0.362000	0.25862	0.494000	0.33585	1.004000	0.29822	0.406000	0.25560	-0.375000	0.07067	GTT		0.418	HTR2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256957.2	NM_000867		12	146	0	0	0	1	0	12	146					G	231988403	C	G	231988403	3	3	264	1	0	0	0	0	1	0	0	0	7442	536	19	5	1381	5	HTR2B	2	231988403	Missense_Mutation	SNP	C	TCGA-J4-A67K-01A-21D-A30E-08	210755501	231988403	11210970	6	12365											
PER2	8864	broad.mit.edu	37	chr2	239160327	239160327	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgaggctgagcagaggtcctCattcagcaggaggtttagga	10	8	15	8	1	2	2	2	1	0	1	3	5	3	4	1	5	2	4	1	5	1	3			TCGA-J4-A67K-01A-21D-A30E-08	TCGA-J4-A67K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68e09db6-a35c-43fc-ac1f-c5b66bb3ae2b	838d6528-8be3-48aa-887b-614a711bddf4	g.chr2:239160327C>A	ENST00000254657.3	-	20	3466	c.3187G>T	c.(3187-3189)Gag>Tag	p.E1063*	PER2_ENST00000254658.3_3'UTR|AC096574.4_ENST00000456601.1_RNA	NM_022817.2	NP_073728.1	O15055	PER2_HUMAN	period circadian clock 2	1063	Interaction with PPARG. {ECO:0000250|UniProtKB:O54943}.				circadian regulation of gene expression (GO:0032922)|circadian regulation of translation (GO:0097167)|circadian rhythm (GO:0007623)|fatty acid metabolic process (GO:0006631)|gluconeogenesis (GO:0006094)|glycogen biosynthetic process (GO:0005978)|histone H3 deacetylation (GO:0070932)|lactate biosynthetic process (GO:0019249)|negative regulation of circadian rhythm (GO:0042754)|negative regulation of DNA-templated transcription, termination (GO:0060567)|negative regulation of fat cell proliferation (GO:0070345)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of cell cycle (GO:0051726)|regulation of circadian rhythm (GO:0042752)|regulation of glutamate uptake involved in transmission of nerve impulse (GO:0051946)|regulation of insulin secretion (GO:0050796)|regulation of neurogenesis (GO:0050767)|regulation of vasoconstriction (GO:0019229)|response to ischemia (GO:0002931)|transcription, DNA-templated (GO:0006351)|white fat cell differentiation (GO:0050872)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	pre-mRNA binding (GO:0036002)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)|transcription factor binding transcription factor activity (GO:0000989)|transcription regulatory region sequence-specific DNA binding (GO:0000976)|ubiquitin binding (GO:0043130)			NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0423)|all_lung(227;0.114)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Lung NSC(271;0.223)|Hepatocellular(293;0.244)		Epithelial(121;6.84e-24)|OV - Ovarian serous cystadenocarcinoma(60;9.73e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;6.77e-05)|Lung(119;0.00941)|LUSC - Lung squamous cell carcinoma(224;0.0161)		CAGAGGTCCTCATTCAGCAGG	0.607																																						ENST00000254657.3																			0				NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						c.(3187-3189)Gag>Tag		period circadian clock 2							147	138	141					2																	239160327		2203	4300	6503	SO:0001587	stop_gained	8864				circadian rhythm|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	protein binding|signal transducer activity	g.chr2:239160327C>A	AB002345	CCDS2528.1	2q37.3	2012-12-13	2012-12-13		ENSG00000132326	ENSG00000132326			8846	protein-coding gene	gene with protein product		603426	"period (Drosophila) homolog 2", "period homolog 2 (Drosophila)"			9427249, 17218255	Standard	NM_022817		Approved	KIAA0347	uc002vyc.3	O15055	OTTHUMG00000152884	ENST00000254657.3:c.3187G>T	2.37:g.239160327C>A	ENSP00000254657:p.Glu1063*					AC096574.4_ENST00000456601.1_RNA|PER2_ENST00000254658.3_3'UTR	p.E1063*	NM_022817.2	NP_073728.1	O15055	PER2_HUMAN		Epithelial(121;6.84e-24)|OV - Ovarian serous cystadenocarcinoma(60;9.73e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;6.77e-05)|Lung(119;0.00941)|LUSC - Lung squamous cell carcinoma(224;0.0161)	20	3466	-		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0423)|all_lung(227;0.114)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Lung NSC(271;0.223)|Hepatocellular(293;0.244)	1063					A2I2P7|Q4ZG49|Q6DT41|Q9UQ45	Nonsense_Mutation	SNP	ENST00000254657.3	37	c.3187G>T	CCDS2528.1	.	.	.	.	.	.	.	.	.	.	C	40	8.364533	0.98779	.	.	ENSG00000132326	ENST00000254657	.	.	.	4.06	4.06	0.47325	.	0.191171	0.30959	U	0.008533	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.52906	T	0.07	-14.0823	12.4938	0.55916	0.0:1.0:0.0:0.0	.	.	.	.	X	1063	.	ENSP00000254657:E1063X	E	-	1	0	PER2	238825066	1.000000	0.71417	0.086000	0.20670	0.070000	0.16714	4.873000	0.63057	2.206000	0.71126	0.557000	0.71058	GAG		0.607	PER2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257167.1	NM_022817		5	77	1	0	0.00116845	1	0.00121427	5	77					A	239160327	C	A	239160327	4	1	264	1	0	0	0	0	0	1	0	0	11730	835	29	5	596	5	PER2	2	239160327	Nonsense_Mutation	SNP	C	TCGA-J4-A67K-01A-21D-A30E-08	7171924	239160327	4039046	7	12366											
CHDH	55349	broad.mit.edu	37	chr3	53852145	53852145	+	Frame_Shift_Del	DEL	G	G	-																															tggctggagctctttccctcGgaacggagccagggcttcct																										TCGA-J4-A67K-01A-21D-A30E-08	TCGA-J4-A67K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68e09db6-a35c-43fc-ac1f-c5b66bb3ae2b	838d6528-8be3-48aa-887b-614a711bddf4	g.chr3:53852145delG	ENST00000315251.6	-	9	1881	c.1444delC	c.(1444-1446)cgafs	p.R482fs		NM_018397.4	NP_060867.2	Q8NE62	CHDH_HUMAN	choline dehydrogenase	482					glycine betaine biosynthetic process from choline (GO:0019285)	mitochondrial inner membrane (GO:0005743)	choline dehydrogenase activity (GO:0008812)|flavin adenine dinucleotide binding (GO:0050660)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)	17		Hepatocellular(537;0.152)		BRCA - Breast invasive adenocarcinoma(193;0.000158)|KIRC - Kidney renal clear cell carcinoma(284;0.00588)|Kidney(284;0.00673)|OV - Ovarian serous cystadenocarcinoma(275;0.118)	Choline(DB00122)	TCTTTCCCTCGGAACGGAGCC	0.522																																						ENST00000315251.5																			0				NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)	17						c.(1444-1446)gafs		choline dehydrogenase	Choline(DB00122)						64	62	63					3																	53852145		2203	4300	6503	SO:0001589	frameshift_variant	55349				alcohol metabolic process		choline dehydrogenase activity|flavin adenine dinucleotide binding	g.chr3:53852145delG	AJ272267	CCDS2873.1	3p21	2004-11-24			ENSG00000016391	ENSG00000016391	1.1.99.1		24288	protein-coding gene	gene with protein product							Standard	NM_018397		Approved		uc003dgz.3	Q8NE62	OTTHUMG00000158281	ENST00000315251.6:c.1444delC	3.37:g.53852145delG	ENSP00000319851:p.Arg482fs						p.R482fs	NM_018397.4	NP_060867.2	Q8NE62	CHDH_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000158)|KIRC - Kidney renal clear cell carcinoma(284;0.00588)|Kidney(284;0.00673)|OV - Ovarian serous cystadenocarcinoma(275;0.118)	9	1881	-		Hepatocellular(537;0.152)	482					Q9NY17	Frame_Shift_Del	DEL	ENST00000315251.6	37	c.1444delC	CCDS2873.1																																																																																				0.522	CHDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350567.2	NM_018397		17	103						17	103	---	---	---	---	-	53852145	G	-	53852145	7	5	264	1	0	1	0	1	0	0	0	0	3333	1124	39	0	344	0	CHDH	3	53852145	Frame_Shift_Del	DEL	G	TCGA-J4-A67K-01A-21D-A30E-08		53852145	144170285	8	12367											
RNF13	11342	broad.mit.edu	37	chr3	149563860	149563860	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gctgtcagccacacaagtctAcaccatcttgactgtccagc	10	9	7	15	0	3	1	1	1	2	0	4	1	4	1	3	0	3	1	3	0	2	2			TCGA-J4-A67K-01A-21D-A30E-08	TCGA-J4-A67K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68e09db6-a35c-43fc-ac1f-c5b66bb3ae2b	838d6528-8be3-48aa-887b-614a711bddf4	g.chr3:149563860A>G	ENST00000344229.3	+	3	749	c.47A>G	c.(46-48)tAc>tGc	p.Y16C	ANKUB1_ENST00000473672.1_5'UTR|RNF13_ENST00000392894.3_Missense_Mutation_p.Y16C	NM_007282.4	NP_009213.1	O43567	RNF13_HUMAN	ring finger protein 13	16					protein autoubiquitination (GO:0051865)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|skin(2)	11		all_neural(597;0.0138)|Myeloproliferative disorder(1037;0.0255)	LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)			ACACAAGTCTACACCATCTTG	0.428																																						ENST00000344229.3																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|skin(2)	11						c.(46-48)tAc>tGc		ring finger protein 13							150	133	139					3																	149563860		2203	4300	6503	SO:0001583	missense	11342				protein autoubiquitination	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|late endosome membrane|lysosomal membrane|nuclear inner membrane	ubiquitin-protein ligase activity|zinc ion binding	g.chr3:149563860A>G	AF037204	CCDS3146.1	3q25.1	2013-01-09			ENSG00000082996	ENSG00000082996		"RING-type (C3HC4) zinc fingers"	10057	protein-coding gene	gene with protein product		609247					Standard	NM_183381		Approved	RZF	uc003exp.4	O43567	OTTHUMG00000150338	ENST00000344229.3:c.47A>G	3.37:g.149563860A>G	ENSP00000341361:p.Tyr16Cys					ANKUB1_ENST00000473672.1_5'UTR|RNF13_ENST00000392894.3_Missense_Mutation_p.Y16C	p.Y16C	NM_007282.4	NP_009213.1	O43567	RNF13_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)		3	749	+		all_neural(597;0.0138)|Myeloproliferative disorder(1037;0.0255)	16					A6NC87|B3KR12|Q05D66|Q6IBJ9	Missense_Mutation	SNP	ENST00000344229.3	37	c.47A>G	CCDS3146.1	.	.	.	.	.	.	.	.	.	.	A	16.42	3.119029	0.56505	.	.	ENSG00000082996	ENST00000392894;ENST00000344229;ENST00000470151;ENST00000466478;ENST00000543506;ENST00000468648;ENST00000459632;ENST00000466795;ENST00000482539;ENST00000490631	T;T;T;T;T;T;T;T	0.49432	3.69;3.69;0.78;2.48;2.89;2.89;0.8;2.89	5.56	5.56	0.83823	.	0.267857	0.38663	N	0.001618	T	0.29028	0.0721	N	0.08118	0	0.80722	D	1	B	0.19445	0.036	B	0.15484	0.013	T	0.09015	-1.0694	10	0.38643	T	0.18	-22.4486	13.5317	0.61625	1.0:0.0:0.0:0.0	.	16	O43567	RNF13_HUMAN	C	16	ENSP00000376628:Y16C;ENSP00000341361:Y16C;ENSP00000419836:Y16C;ENSP00000420067:Y16C;ENSP00000419069:Y16C;ENSP00000417655:Y16C;ENSP00000420691:Y16C;ENSP00000417294:Y16C	ENSP00000341361:Y16C	Y	+	2	0	RNF13	151046550	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	7.953000	0.87836	2.245000	0.73994	0.482000	0.46254	TAC		0.428	RNF13-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356876.1	NM_183384		17	50	0	0	0	1	0	17	50					G	149563860	A	G	149563860	3	3	264	1	0	0	0	0	1	0	0	0	13437	391	14	4	49	4	RNF13	3	149563860	Missense_Mutation	SNP	A	TCGA-J4-A67K-01A-21D-A30E-08	95711715	149563860	48458570	9	12368											
GDNF	2668	broad.mit.edu	37	chr5	37816139	37816139	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ctctcttctaggaagcactgCcatttgtttatctggtgacc	7	15	8	11	0	3	1	0	1	3	0	4	2	3	2	2	2	2	2	2	2	3	5			TCGA-J4-A67K-01A-21D-A30E-08	TCGA-J4-A67K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68e09db6-a35c-43fc-ac1f-c5b66bb3ae2b	838d6528-8be3-48aa-887b-614a711bddf4	g.chr5:37816139C>A	ENST00000326524.2	-	3	449	c.250G>T	c.(250-252)Gca>Tca	p.A84S	GDNF_ENST00000381826.4_Missense_Mutation_p.A75S|GDNF_ENST00000427982.1_Missense_Mutation_p.A101S|GDNF_ENST00000515058.1_Missense_Mutation_p.A58S|GDNF_ENST00000344622.4_Missense_Mutation_p.A58S	NM_000514.3	NP_000505.1	P39905	GDNF_HUMAN	glial cell derived neurotrophic factor	84					adult locomotory behavior (GO:0008344)|axon guidance (GO:0007411)|branching involved in ureteric bud morphogenesis (GO:0001658)|enteric nervous system development (GO:0048484)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|metanephros development (GO:0001656)|mRNA stabilization (GO:0048255)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of neuron apoptotic process (GO:0043524)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|neuron projection development (GO:0031175)|organ induction (GO:0001759)|peristalsis (GO:0030432)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of dopamine secretion (GO:0033603)|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0072108)|positive regulation of monooxygenase activity (GO:0032770)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of ureteric bud formation (GO:0072107)|postganglionic parasympathetic nervous system development (GO:0021784)|postsynaptic membrane organization (GO:0001941)|regulation of dopamine uptake involved in synaptic transmission (GO:0051584)|regulation of morphogenesis of a branching structure (GO:0060688)|signal transduction (GO:0007165)|sympathetic nervous system development (GO:0048485)|ureteric bud formation (GO:0060676)	extracellular region (GO:0005576)	protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)			NS(1)|endometrium(1)|large_intestine(2)|liver(1)|lung(8)|skin(2)	15	all_lung(31;0.00118)					GGAAGCACTGCCATTTGTTTA	0.483																																						ENST00000326524.2																			0				NS(1)|endometrium(1)|large_intestine(2)|liver(1)|lung(8)|skin(2)	15						c.(250-252)Gca>Tca		glial cell derived neurotrophic factor							85	90	88					5																	37816139		2203	4300	6503	SO:0001583	missense	2668				adult locomotory behavior|anti-apoptosis|axon guidance|branching involved in ureteric bud morphogenesis|enteric nervous system development|mRNA stabilization|negative regulation of neuron apoptosis|neural crest cell migration|peristalsis|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of dopamine secretion|positive regulation of monooxygenase activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of ureteric bud formation|postganglionic parasympathetic nervous system development|regulation of dopamine uptake|signal transduction|sympathetic nervous system development	extracellular region	growth factor activity|protein homodimerization activity	g.chr5:37816139C>A		CCDS3922.1, CCDS3923.1, CCDS54845.1, CCDS54846.1, CCDS75237.1	5p13.1-p12	2014-01-30			ENSG00000168621	ENSG00000168621		"Endogenous ligands"	4232	protein-coding gene	gene with protein product	"astrocyte-derived trophic factor", "glial cell line derived neurotrophic factor", "glial derived neurotrophic factor"	600837				8493557	Standard	NM_199231		Approved	ATF1, ATF2, HFB1-GDNF	uc011cpg.2	P39905	OTTHUMG00000090809	ENST00000326524.2:c.250G>T	5.37:g.37816139C>A	ENSP00000317145:p.Ala84Ser					GDNF_ENST00000515058.1_Missense_Mutation_p.A58S|GDNF_ENST00000381826.4_Missense_Mutation_p.A75S|GDNF_ENST00000344622.4_Missense_Mutation_p.A58S|GDNF_ENST00000427982.1_Missense_Mutation_p.A101S	p.A84S	NM_000514.3	NP_000505.1	P39905	GDNF_HUMAN			3	449	-	all_lung(31;0.00118)		84					B7WPK7|O95448|O95449|O95986|Q6FH33|Q96L44|Q9UD32|Q9UD33|Q9UMV2|Q9UP67|Q9UP97	Missense_Mutation	SNP	ENST00000326524.2	37	c.250G>T	CCDS3922.1	.	.	.	.	.	.	.	.	.	.	C	11.69	1.713848	0.30413	.	.	ENSG00000168621	ENST00000326524;ENST00000344622;ENST00000515058;ENST00000427982;ENST00000381826;ENST00000502572;ENST00000510177	D;D;D;D;D;T;T	0.93488	-3.2;-3.21;-3.21;-3.21;-3.23;-1.16;-1.16	5.9	5.04	0.67666	.	0.332745	0.34580	N	0.003847	D	0.89171	0.6639	L	0.56769	1.78	0.26240	N	0.978884	B;B;B;B	0.33549	0.013;0.417;0.029;0.009	B;B;B;B	0.28011	0.002;0.085;0.008;0.012	T	0.78262	-0.2272	10	0.13853	T	0.58	-3.6407	10.8953	0.47019	0.0:0.7602:0.1659:0.0739	.	84;75;101;58	P39905;P39905-4;P39905-3;P39905-2	GDNF_HUMAN;.;.;.	S	84;58;58;101;75;58;58	ENSP00000317145:A84S;ENSP00000339703:A58S;ENSP00000425928:A58S;ENSP00000409007:A101S;ENSP00000371248:A75S;ENSP00000423557:A58S;ENSP00000424592:A58S	ENSP00000317145:A84S	A	-	1	0	GDNF	37851896	0.998000	0.40836	0.998000	0.56505	0.998000	0.95712	2.284000	0.43478	1.511000	0.48818	0.655000	0.94253	GCA		0.483	GDNF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207606.1	NM_000514		11	93	1	0	5.50884e-06	1	5.83937e-06	11	93					A	37816139	C	A	37816139	3	1	264	1	0	0	0	0	1	0	0	0	6322	739	26	5	388	5	GDNF	5	37816139	Missense_Mutation	SNP	C	TCGA-J4-A67K-01A-21D-A30E-08		37816139	143099121	10	12369											
PCDHB10	56126	broad.mit.edu	37	chr5	140574345	140574345	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttccagggcatctggtggaCgtgaggggcgctgagaccct	6	9	16	10	2	1	2	0	2	1	1	2	4	2	3	2	5	0	2	2	5	0	1	rs146513187		TCGA-J4-A67K-01A-21D-A30E-08	TCGA-J4-A67K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68e09db6-a35c-43fc-ac1f-c5b66bb3ae2b	838d6528-8be3-48aa-887b-614a711bddf4	g.chr5:140574345C>T	ENST00000239446.4	+	1	2404	c.2220C>T	c.(2218-2220)gaC>gaT	p.D740D		NM_018930.3	NP_061753.1	Q9UN67	PCDBA_HUMAN	protocadherin beta 10	740					calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(30)|ovary(4)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	76			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ATCTGGTGGACGTGAGGGGCG	0.627																																						ENST00000239446.4																			0				breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(30)|ovary(4)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	76						c.(2218-2220)gaC>gaT									74	83	80					5																	140574345		2203	4300	6503	SO:0001819	synonymous_variant	0				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140574345C>T	AF152489	CCDS4252.1	5q31.3	2010-06-15			ENSG00000120324	ENSG00000120324		"Cadherins / Protocadherins : Clustered"	8681	other	protocadherin		606336				10380929	Standard	NM_018930		Approved		uc003lix.3	Q9UN67	OTTHUMG00000129626	ENST00000239446.4:c.2220C>T	5.37:g.140574345C>T							p.D740D	NM_018930.3	NP_061753.1	Q9UN67	PCDBA_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	2404	+			740					Q96T99	Silent	SNP	ENST00000239446.4	37	c.2220C>T	CCDS4252.1																																																																																				0.627	PCDHB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251821.1	NM_018930		5	189	0	0	0	1	0	5	189					T	140574345	C	T	140574345	2	4	264	1	0	0	0	0	0	0	0	1	11535	535	19	1		1	PCDHB10	5	140574345	Silent	SNP	C	TCGA-J4-A67K-01A-21D-A30E-08	102758206	140574345	40340915	11	12370											
LMAN2	10960	broad.mit.edu	37	chr5	176778547	176778547	+	Frame_Shift_Del	DEL	A	A	-																															gaccccaacaacaaaagaagAaagagaggtgtagtggggcc																										TCGA-J4-A67K-01A-21D-A30E-08	TCGA-J4-A67K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68e09db6-a35c-43fc-ac1f-c5b66bb3ae2b	838d6528-8be3-48aa-887b-614a711bddf4	g.chr5:176778547delA	ENST00000303127.7	-	1	306	c.102delT	c.(100-102)tttfs	p.F34fs	LMAN2_ENST00000506310.1_5'UTR|LMAN2_ENST00000515209.1_Frame_Shift_Del_p.F34fs	NM_006816.2	NP_006807.1	Q12907	LMAN2_HUMAN	lectin, mannose-binding 2	34					positive regulation of phagocytosis (GO:0050766)|protein transport (GO:0015031)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)	carbohydrate binding (GO:0030246)|glycoprotein binding (GO:0001948)|heat shock protein binding (GO:0031072)|mannose binding (GO:0005537)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|upper_aerodigestive_tract(1)	16	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			ACAAAAGAAGAAAGAGAGGTG	0.602																																						ENST00000303127.7																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|upper_aerodigestive_tract(1)	16						c.(100-102)ttfs		lectin, mannose-binding 2							52	52	52					5																	176778547		2203	4300	6503	SO:0001589	frameshift_variant	10960				protein transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane	metal ion binding|sugar binding	g.chr5:176778547delA	U10362	CCDS4417.1	5q35	2008-02-05		2003-07-04	ENSG00000169223	ENSG00000169223			16986	protein-coding gene	gene with protein product		609551	"chromosome 5 open reading frame 8"	C5orf8		12609988	Standard	NM_006816		Approved	GP36B, VIP36	uc003mge.3	Q12907	OTTHUMG00000130860	ENST00000303127.7:c.102delT	5.37:g.176778547delA	ENSP00000303366:p.Phe34fs					LMAN2_ENST00000506310.1_5'UTR|LMAN2_ENST00000515209.1_Frame_Shift_Del_p.F34fs	p.F34fs	NM_006816.2	NP_006807.1	Q12907	LMAN2_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		1	306	-	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	34					Q53HH1	Frame_Shift_Del	DEL	ENST00000303127.7	37	c.102delT	CCDS4417.1																																																																																				0.602	LMAN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253434.1	NM_006816		11	51						11	51	---	---	---	---	-	176778547	A	-	176778547	7	5	264	1	0	1	0	1	0	0	0	0	8838	243	9	0	1000	0	LMAN2	5	176778547	Frame_Shift_Del	DEL	A	TCGA-J4-A67K-01A-21D-A30E-08	36204202	176778547	4136713	12	12371											
RIPK1	8737	broad.mit.edu	37	chr6	3113516	3113516	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gggaagctggcccaggcgctCcaccagtgttccaggatcga	8	6	14	13	2	0	0	0	0	0	0	3	3	2	2	4	4	1	3	4	4	1	1			TCGA-J4-A67K-01A-21D-A30E-08	TCGA-J4-A67K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68e09db6-a35c-43fc-ac1f-c5b66bb3ae2b	838d6528-8be3-48aa-887b-614a711bddf4	g.chr6:3113516C>T	ENST00000259808.4	+	11	2257	c.1959C>T	c.(1957-1959)ctC>ctT	p.L653L	RIPK1_ENST00000380409.2_Silent_p.L653L|RIPK1_ENST00000541791.1_Silent_p.L607L			Q13546	RIPK1_HUMAN	receptor (TNFRSF)-interacting serine-threonine kinase 1	653	Death. {ECO:0000255|PROSITE- ProRule:PRU00064}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of JUN kinase activity (GO:0007257)|amyloid fibril formation (GO:1990000)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cellular protein catabolic process (GO:0044257)|cellular response to growth factor stimulus (GO:0071363)|cellular response to tumor necrosis factor (GO:0071356)|extrinsic apoptotic signaling pathway (GO:0097191)|innate immune response (GO:0045087)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|necroptotic process (GO:0070266)|necroptotic signaling pathway (GO:0097527)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|peptidyl-serine autophosphorylation (GO:0036289)|positive regulation of apoptotic process (GO:0043065)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of JNK cascade (GO:0046330)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of necroptotic process (GO:0060545)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of programmed cell death (GO:0043068)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of type I interferon production (GO:0032481)|protein autophosphorylation (GO:0046777)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|regulation of ATP:ADP antiporter activity (GO:0070926)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|response to tumor necrosis factor (GO:0034612)|ripoptosome assembly (GO:0097343)|ripoptosome assembly involved in necroptotic process (GO:1901026)|T cell apoptotic process (GO:0070231)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	cytosol (GO:0005829)|death-inducing signaling complex (GO:0031264)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|receptor complex (GO:0043235)|ripoptosome (GO:0097342)	ATP binding (GO:0005524)|death domain binding (GO:0070513)|death receptor binding (GO:0005123)|identical protein binding (GO:0042802)|protein complex binding (GO:0032403)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	23	Ovarian(93;0.0386)	all_hematologic(90;0.0895)				CCCAGGCGCTCCACCAGTGTT	0.547																																						ENST00000259808.4																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	23						c.(1957-1959)ctC>ctT		receptor (TNFRSF)-interacting serine-threonine kinase 1							58	52	55					6																	3113516		2203	4300	6503	SO:0001819	synonymous_variant	8737				activation of caspase activity|activation of JUN kinase activity|activation of pro-apoptotic gene products|induction of apoptosis by extracellular signals|induction of necroptosis by extracellular signals|innate immune response|MyD88-independent toll-like receptor signaling pathway|positive regulation of anti-apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-8 production|positive regulation of NF-kappaB transcription factor activity|positive regulation of reactive oxygen species metabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|protein autophosphorylation|regulation of ATP:ADP antiporter activity|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|death-inducing signaling complex|endosome membrane|mitochondrion|receptor complex	ATP binding|death domain binding|death receptor binding|protein serine/threonine kinase activity	g.chr6:3113516C>T	U25994	CCDS4482.1	6p25.2	2008-02-05			ENSG00000137275	ENSG00000137275			10019	protein-coding gene	gene with protein product		603453				7538908, 8612133	Standard	XM_005249458		Approved	RIP	uc003mux.3	Q13546	OTTHUMG00000014134	ENST00000259808.4:c.1959C>T	6.37:g.3113516C>T						RIPK1_ENST00000380409.2_Silent_p.L653L|RIPK1_ENST00000541791.1_Silent_p.L607L	p.L653L			Q13546	RIPK1_HUMAN			11	2257	+	Ovarian(93;0.0386)	all_hematologic(90;0.0895)	653			Death.		A0AV89|B2RAG1|B4E3F9|Q13180|Q59H33	Silent	SNP	ENST00000259808.4	37	c.1959C>T	CCDS4482.1																																																																																				0.547	RIPK1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039659.2	NM_003804		5	47	0	0	0	1	0	5	47					T	3113516	C	T	3113516	2	4	264	1	0	0	0	0	0	0	0	1	13380	842	30	3		3	RIPK1	6	3113516	Silent	SNP	C	TCGA-J4-A67K-01A-21D-A30E-08		3113516	168001551	13	12372											
HIVEP1	3096	broad.mit.edu	37	chr6	12124160	12124160	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttaattgcacgcaaacgtcaAtggaggtctctgatctcaga	12	11	9	9	2	3	2	2	1	2	1	5	3	3	3	0	2	2	2	0	2	3	2	rs147240117		TCGA-J4-A67K-01A-21D-A30E-08	TCGA-J4-A67K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68e09db6-a35c-43fc-ac1f-c5b66bb3ae2b	838d6528-8be3-48aa-887b-614a711bddf4	g.chr6:12124160A>G	ENST00000379388.2	+	4	4464	c.4132A>G	c.(4132-4134)Atg>Gtg	p.M1378V	HIVEP1_ENST00000541134.1_5'Flank	NM_002114.2	NP_002105.2	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer binding protein 1	1378					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				GCAAACGTCAATGGAGGTCTC	0.468													A|||	1	0.000199681	0	0	5008	,	,		20779	0.001		0	False		,,,				2504	0					ENST00000379388.2																			0				NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90						c.(4132-4134)Atg>Gtg		human immunodeficiency virus type I enhancer binding protein 1							116	117	116					6																	12124160		2032	4188	6220	SO:0001583	missense	3096				transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding	g.chr6:12124160A>G	J05011	CCDS43426.1	6p24-p22.3	2012-10-05	2001-11-28		ENSG00000095951	ENSG00000095951		"Zinc fingers, C2H2-type"	4920	protein-coding gene	gene with protein product		194540	"human immunodeficiency virus type I enhancer-binding protein 1", "zinc finger protein 40"	ZNF40		2037300	Standard	XR_241895		Approved	CIRIP, MBP-1, CRYBP1, PRDII-BF1, ZAS1, Schnurri-1, ZNF40A	uc003nac.3	P15822	OTTHUMG00000014265	ENST00000379388.2:c.4132A>G	6.37:g.12124160A>G	ENSP00000368698:p.Met1378Val						p.M1378V	NM_002114.2	NP_002105.2	P15822	ZEP1_HUMAN			4	4464	+	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)	1378					B2RTU3|Q14122|Q5MPB1|Q5VW60	Missense_Mutation	SNP	ENST00000379388.2	37	c.4132A>G	CCDS43426.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	A	9.012	0.982705	0.18889	.	.	ENSG00000095951	ENST00000379388	T	0.10763	2.84	5.79	5.79	0.91817	.	0.000000	0.44097	D	0.000498	T	0.06735	0.0172	M	0.66939	2.045	0.80722	D	1	P	0.36027	0.533	B	0.28784	0.094	T	0.11203	-1.0597	9	.	.	.	-31.7091	16.1354	0.81481	1.0:0.0:0.0:0.0	.	1378	P15822	ZEP1_HUMAN	V	1378	ENSP00000368698:M1378V	.	M	+	1	0	HIVEP1	12232146	1.000000	0.71417	0.924000	0.36721	0.029000	0.11900	5.184000	0.65070	2.207000	0.71202	0.533000	0.62120	ATG		0.468	HIVEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039870.2	NM_002114		12	97	0	0	0	1	0	12	97					G	12124160	A	G	12124160	3	3	264	1	0	0	0	0	1	0	0	0	7186	101	4	4	4142	4	HIVEP1	6	12124160	Missense_Mutation	SNP	A	TCGA-J4-A67K-01A-21D-A30E-08	9010644	12124160	158990907	14	12373											
C6orf89	221477	broad.mit.edu	37	chr6	36887410	36887410	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggtgaggccatgttgcagctCatccctcccttccagtgccg	5	10	11	15	1	1	1	1	1	0	0	4	1	4	1	5	2	3	3	5	2	0	2			TCGA-J4-A67K-01A-21D-A30E-08	TCGA-J4-A67K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68e09db6-a35c-43fc-ac1f-c5b66bb3ae2b	838d6528-8be3-48aa-887b-614a711bddf4	g.chr6:36887410C>T	ENST00000480824.2	+	8	1176	c.882C>T	c.(880-882)ctC>ctT	p.L294L	C6orf89_ENST00000373685.1_Silent_p.L294L|C6orf89_ENST00000355190.3_Silent_p.L301L|C6orf89_ENST00000359359.2_Silent_p.L188L|C6orf89_ENST00000510325.2_Silent_p.L188L			Q6UWU4	CF089_HUMAN	chromosome 6 open reading frame 89	294					epithelial cell proliferation (GO:0050673)|positive regulation of cell cycle (GO:0045787)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|skin(2)	15						TGTTGCAGCTCATCCCTCCCT	0.532																																						ENST00000480824.2																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|skin(2)	15						c.(880-882)ctC>ctT		chromosome 6 open reading frame 89							120	104	110					6																	36887410		2203	4300	6503	SO:0001819	synonymous_variant	221477					integral to membrane		g.chr6:36887410C>T	AK058086	CCDS4827.1, CCDS69100.1, CCDS75444.1	6p21.31	2013-03-14			ENSG00000198663	ENSG00000198663			21114	protein-coding gene	gene with protein product	"bombesin receptor activated protein"					21857995, 23460338	Standard	NM_152734		Approved	FLJ25357, BRAP	uc003omw.3	Q6UWU4	OTTHUMG00000014613	ENST00000480824.2:c.882C>T	6.37:g.36887410C>T						C6orf89_ENST00000373685.1_Silent_p.L294L|C6orf89_ENST00000355190.3_Silent_p.L301L|C6orf89_ENST00000510325.2_Silent_p.L188L|C6orf89_ENST00000359359.2_Silent_p.L188L	p.L294L			Q6UWU4	CF089_HUMAN			8	1176	+			294					B4DTT1|F4NAR0|F4NAR1|Q6ZMG5|Q7Z356|Q8IZ35	Silent	SNP	ENST00000480824.2	37	c.882C>T																																																																																					0.532	C6orf89-004	KNOWN	alternative_5_UTR|basic	protein_coding	protein_coding	OTTHUMT00000040387.2	NM_152734		10	89	0	0	0	1	0	10	89					T	36887410	C	T	36887410	2	4	264	1	0	0	0	0	0	0	0	1	2373	813	29	3		3	C6orf89	6	36887410	Silent	SNP	C	TCGA-J4-A67K-01A-21D-A30E-08	24763250	36887410	134227657	15	12374											
LIN28B	389421	broad.mit.edu	37	chr6	105406094	105406094	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	caatgtgcgcatgggatttgGattcatctccatgataaacc	11	12	9	9	1	2	1	1	1	1	0	3	3	2	3	2	2	2	1	2	2	3	3			TCGA-J4-A67K-01A-21D-A30E-08	TCGA-J4-A67K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68e09db6-a35c-43fc-ac1f-c5b66bb3ae2b	838d6528-8be3-48aa-887b-614a711bddf4	g.chr6:105406094G>T	ENST00000345080.4	+	2	334	c.131G>T	c.(130-132)gGa>gTa	p.G44V		NM_001004317.3	NP_001004317.1	Q6ZN17	LN28B_HUMAN	lin-28 homolog B (C. elegans)	44	CSD.				miRNA catabolic process (GO:0010587)|pre-miRNA processing (GO:0031054)|regulation of transcription, DNA-templated (GO:0006355)|RNA 3'-end processing (GO:0031123)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			large_intestine(1)|lung(10)|ovary(1)	12		all_cancers(87;0.00346)|Acute lymphoblastic leukemia(125;2.26e-08)|all_hematologic(75;2.79e-06)|all_epithelial(87;0.204)				ATGGGATTTGGATTCATCTCC	0.517																																						ENST00000345080.4																			0				large_intestine(1)|lung(10)|ovary(1)	12						c.(130-132)gGa>gTa		lin-28 homolog B (C. elegans)							96	100	99					6																	105406094		2203	4300	6503	SO:0001583	missense	389421				miRNA catabolic process|pre-miRNA processing|regulation of transcription, DNA-dependent|RNA 3'-end processing	cytoplasm|nucleus	DNA binding|protein binding|RNA binding|zinc ion binding	g.chr6:105406094G>T	AK131411	CCDS34504.1	6q21	2010-04-06			ENSG00000187772	ENSG00000187772			32207	protein-coding gene	gene with protein product		611044					Standard	NM_001004317		Approved	FLJ16517, CSDD2	uc003pqv.2	Q6ZN17	OTTHUMG00000015290	ENST00000345080.4:c.131G>T	6.37:g.105406094G>T	ENSP00000344401:p.Gly44Val						p.G44V	NM_001004317.3	NP_001004317.1	Q6ZN17	LN28B_HUMAN			2	334	+		all_cancers(87;0.00346)|Acute lymphoblastic leukemia(125;2.26e-08)|all_hematologic(75;2.79e-06)|all_epithelial(87;0.204)	44			CSD.		A1L165|B2RPN6|Q5TCM4	Missense_Mutation	SNP	ENST00000345080.4	37	c.131G>T	CCDS34504.1	.	.	.	.	.	.	.	.	.	.	G	23.4	4.412528	0.83340	.	.	ENSG00000187772	ENST00000345080	.	.	.	5.78	5.78	0.91487	Cold shock protein (1);Nucleic acid-binding, OB-fold-like (1);Cold-shock protein, DNA-binding (2);Nucleic acid-binding, OB-fold (1);	0.000000	0.85682	D	0.000000	D	0.90208	0.6939	H	0.97806	4.08	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.93172	0.6567	9	0.87932	D	0	-14.9825	20.0044	0.97430	0.0:0.0:1.0:0.0	.	21;44	A7E2T3;Q6ZN17	.;LN28B_HUMAN	V	44	.	ENSP00000344401:G44V	G	+	2	0	LIN28B	105512787	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.869000	0.99810	2.714000	0.92807	0.650000	0.86243	GGA		0.517	LIN28B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041646.2	NM_001004317		19	114	1	0	4.96729e-08	1	5.37278e-08	19	114					T	105406094	G	T	105406094	3	4	264	1	0	0	0	0	1	0	0	0	8806	1174	41	5	137	5	LIN28B	6	105406094	Missense_Mutation	SNP	G	TCGA-J4-A67K-01A-21D-A30E-08	68518684	105406094	65708973	16	12375											
VGLL2	245806	broad.mit.edu	37	chr6	117593620	117593620	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgatcttggtttgcagctcGtcgttattccctctgtggtg	3	17	11	10	2	2	1	0	1	2	0	5	1	3	1	1	2	2	4	1	2	1	4	rs143287461	byFrequency	TCGA-J4-A67K-01A-21D-A30E-08	TCGA-J4-A67K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68e09db6-a35c-43fc-ac1f-c5b66bb3ae2b	838d6528-8be3-48aa-887b-614a711bddf4	g.chr6:117593620G>A	ENST00000326274.5	+	4	1107	c.917G>A	c.(916-918)cGt>cAt	p.R306H	VGLL2_ENST00000352536.3_Missense_Mutation_p.R132H	NM_182645.3	NP_872586.1	Q8N8G2	VGLL2_HUMAN	vestigial-like family member 2	306					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal muscle tissue development (GO:0007519)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)			central_nervous_system(1)|kidney(1)|lung(3)	5				GBM - Glioblastoma multiforme(226;0.0254)|all cancers(137;0.0676)|OV - Ovarian serous cystadenocarcinoma(136;0.0757)		TTTGCAGCTCGTCGTTATTCC	0.537																																						ENST00000326274.5																			0				central_nervous_system(1)|kidney(1)|lung(3)	5						c.(916-918)cGt>cAt		vestigial like 2 (Drosophila)		G	HIS/ARG,HIS/ARG	0,4406		0,0,2203	517	438	465		395,917	1.8	1	6	dbSNP_134	465	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	VGLL2	NM_153453.1,NM_182645.2	29,29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign,benign	132/144,306/318	117593620	1,13005	2203	4300	6503	SO:0001583	missense	245806				transcription, DNA-dependent	nucleus		g.chr6:117593620G>A	AY056583	CCDS5114.1, CCDS5115.1	6q22.31	2014-03-03	2014-03-03		ENSG00000170162	ENSG00000170162			20232	protein-coding gene	gene with protein product		609979	"vestigial like 2 (Drosophila)"			12376544	Standard	NM_153453		Approved		uc003pxn.3	Q8N8G2	OTTHUMG00000015451	ENST00000326274.5:c.917G>A	6.37:g.117593620G>A	ENSP00000320957:p.Arg306His					VGLL2_ENST00000352536.3_Missense_Mutation_p.R132H	p.R306H	NM_182645.2	NP_872586.1	Q8N8G2	VGLL2_HUMAN		GBM - Glioblastoma multiforme(226;0.0254)|all cancers(137;0.0676)|OV - Ovarian serous cystadenocarcinoma(136;0.0757)	4	1107	+			306					Q8WWX1	Missense_Mutation	SNP	ENST00000326274.5	37	c.917G>A	CCDS5115.1	.	.	.	.	.	.	.	.	.	.	G	13.38	2.220769	0.39201	0.0	1.16E-4	ENSG00000170162	ENST00000352536;ENST00000326274	T	0.48201	0.82	4.7	1.8	0.24995	.	0.461223	0.21522	N	0.073188	T	0.18087	0.0434	L	0.40543	1.245	0.49213	D	0.999761	B;B	0.09022	0.001;0.002	B;B	0.04013	0.001;0.001	T	0.05451	-1.0884	10	0.41790	T	0.15	-21.1313	7.2582	0.26189	0.1505:0.2659:0.5836:0.0	.	132;306	Q8N8G2-2;Q8N8G2	.;VGLL2_HUMAN	H	132;306	ENSP00000320957:R306H	ENSP00000320957:R306H	R	+	2	0	VGLL2	117700313	1.000000	0.71417	0.981000	0.43875	0.974000	0.67602	1.443000	0.35057	0.249000	0.21456	0.561000	0.74099	CGT		0.537	VGLL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041975.2	NM_153453		7	323	0	0	0	1	0	7	323					A	117593620	G	A	117593620	3	1	264	1	0	0	0	0	1	0	0	0	17156	1145	40	1	931	1	VGLL2	6	117593620	Missense_Mutation	SNP	G	TCGA-J4-A67K-01A-21D-A30E-08	12187526	117593620	53521447	17	12376											
TIAM2	26230	broad.mit.edu	37	chr6	155572137	155572137	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	taggaaaagctagaaaggacCttgagctcacagtatttggt	14	10	11	6	0	1	2	1	1	0	1	1	4	1	4	1	3	2	3	1	3	6	5			TCGA-J4-A67K-01A-21D-A30E-08	TCGA-J4-A67K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68e09db6-a35c-43fc-ac1f-c5b66bb3ae2b	838d6528-8be3-48aa-887b-614a711bddf4	g.chr6:155572137C>A	ENST00000461783.3	+	24	5315	c.4042C>A	c.(4042-4044)Ctt>Att	p.L1348I	TIAM2_ENST00000456144.1_Missense_Mutation_p.L1377I|TIAM2_ENST00000528391.2_Missense_Mutation_p.L684I|TIAM2_ENST00000529824.2_Missense_Mutation_p.L1377I|TIAM2_ENST00000360366.4_Missense_Mutation_p.L1372I|TIAM2_ENST00000367174.2_Missense_Mutation_p.L724I|TIAM2_ENST00000456877.2_Missense_Mutation_p.L660I|TIAM2_ENST00000275246.7_Missense_Mutation_p.L273I|RP11-477D19.2_ENST00000435295.1_RNA|TIAM2_ENST00000318981.5_Missense_Mutation_p.L1348I			Q8IVF5	TIAM2_HUMAN	T-cell lymphoma invasion and metastasis 2	1348	PH 2. {ECO:0000255|PROSITE- ProRule:PRU00145}.				apoptotic signaling pathway (GO:0097190)|cellular lipid metabolic process (GO:0044255)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	cell projection (GO:0042995)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)|receptor signaling protein activity (GO:0005057)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)		TAGAAAGGACCTTGAGCTCAC	0.453																																						ENST00000461783.3																			0				breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65						c.(4042-4044)Ctt>Att		T-cell lymphoma invasion and metastasis 2							142	134	137					6																	155572137		2203	4300	6503	SO:0001583	missense	26230				apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|filopodium|growth cone|lamellipodium	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity	g.chr6:155572137C>A		CCDS34558.1, CCDS34559.1	6q25	2013-01-10			ENSG00000146426	ENSG00000146426		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	11806	protein-coding gene	gene with protein product		604709				10512681	Standard	NM_012454		Approved	STEF	uc003qqe.3	Q8IVF5	OTTHUMG00000015880	ENST00000461783.3:c.4042C>A	6.37:g.155572137C>A	ENSP00000437188:p.Leu1348Ile					TIAM2_ENST00000318981.5_Missense_Mutation_p.L1348I|TIAM2_ENST00000275246.7_Missense_Mutation_p.L273I|TIAM2_ENST00000367174.2_Missense_Mutation_p.L724I|TIAM2_ENST00000529824.2_Missense_Mutation_p.L1377I|TIAM2_ENST00000456144.1_Missense_Mutation_p.L1377I|TIAM2_ENST00000528391.2_Missense_Mutation_p.L684I|TIAM2_ENST00000360366.4_Missense_Mutation_p.L1372I|TIAM2_ENST00000456877.2_Missense_Mutation_p.L660I	p.L1348I			Q8IVF5	TIAM2_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)	24	5315	+		Ovarian(120;0.196)	1348			PH 2.		B2RP56|C9JZV2|Q6NXN9|Q6ZUP9|Q9UFG6|Q9UKV9|Q9UKW0	Missense_Mutation	SNP	ENST00000461783.3	37	c.4042C>A	CCDS34558.1	.	.	.	.	.	.	.	.	.	.	C	12.17	1.858683	0.32791	.	.	ENSG00000146426	ENST00000461783;ENST00000528928;ENST00000528535;ENST00000456144;ENST00000318981;ENST00000367174;ENST00000360366;ENST00000529824;ENST00000456877;ENST00000528391;ENST00000275246	T;T;T;T;T;T;T;T;T;T	0.07908	3.58;3.46;3.48;3.58;3.39;3.57;3.48;3.38;3.38;3.15	5.43	2.61	0.31194	Pleckstrin homology-type (1);Pleckstrin homology domain (1);	0.198083	0.45126	N	0.000398	T	0.02012	0.0063	L	0.43152	1.355	0.31980	N	0.606002	B;B;B;B	0.13594	0.001;0.008;0.008;0.005	B;B;B;B	0.18871	0.006;0.023;0.023;0.004	T	0.47100	-0.9143	10	0.19147	T	0.46	.	6.0937	0.20008	0.1365:0.6494:0.0:0.2141	.	684;1377;1372;1348	E9PKT1;Q8IVF5-2;Q8IVF5-5;Q8IVF5	.;.;.;TIAM2_HUMAN	I	1348;1594;1348;1377;1348;724;1372;1377;660;684;273	ENSP00000437188:L1348I;ENSP00000434901:L1348I;ENSP00000407746:L1377I;ENSP00000327315:L1348I;ENSP00000356142:L724I;ENSP00000353528:L1372I;ENSP00000433348:L1377I;ENSP00000407183:L660I;ENSP00000435335:L684I;ENSP00000275246:L273I	ENSP00000275246:L273I	L	+	1	0	TIAM2	155613829	1.000000	0.71417	0.941000	0.38009	0.987000	0.75469	3.381000	0.52455	0.245000	0.21373	0.655000	0.94253	CTT		0.453	TIAM2-005	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000387980.2	NM_012454		32	95	1	0	1.99505e-19	1	2.29865e-19	32	95					A	155572137	C	A	155572137	3	1	264	1	0	0	0	0	1	0	0	0	15888	681	24	5	4116	5	TIAM2	6	155572137	Missense_Mutation	SNP	C	TCGA-J4-A67K-01A-21D-A30E-08	37978517	155572137	15542930	18	12377											
VSTM2A	222008	broad.mit.edu	37	chr7	54617801	54617801	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccatggctctgccaaccaacGaacgcactccacctccagcc	10	5	6	20	2	1	0	0	0	1	0	3	1	3	0	7	1	5	2	7	1	3	0	rs200451254		TCGA-J4-A67K-01A-21D-A30E-08	TCGA-J4-A67K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68e09db6-a35c-43fc-ac1f-c5b66bb3ae2b	838d6528-8be3-48aa-887b-614a711bddf4	g.chr7:54617801G>A	ENST00000407838.3	+	4	978	c.572G>A	c.(571-573)cGa>cAa	p.R191Q	VSTM2A_ENST00000404951.1_Missense_Mutation_p.R191Q|VSTM2A_ENST00000402613.3_Missense_Mutation_p.R191Q|VSTM2A_ENST00000302287.3_Missense_Mutation_p.R191Q|VSTM2A_ENST00000498834.1_3'UTR|VSTM2A_ENST00000402026.2_Missense_Mutation_p.R190Q	NM_182546.2	NP_872352.2	Q8TAG5	VTM2A_HUMAN	V-set and transmembrane domain containing 2A	191						extracellular region (GO:0005576)		p.R190Q(2)|p.R191Q(1)		endometrium(1)|large_intestine(2)|lung(12)|prostate(1)	16			STAD - Stomach adenocarcinoma(5;0.0525)			GCCAACCAACGAACGCACTCC	0.547																																						ENST00000302287.3																			3	Substitution - Missense(3)	p.R190Q(2)|p.R191Q(1)	large_intestine(2)|breast(1)	endometrium(1)|large_intestine(2)|lung(12)|prostate(1)	16						c.(571-573)cGa>cAa		V-set and transmembrane domain containing 2A							64	52	56					7																	54617801		2203	4300	6503	SO:0001583	missense	222008					extracellular region		g.chr7:54617801G>A	BC028404	CCDS5512.2, CCDS75604.1	7p11.2	2013-01-11	2007-08-10	2007-08-10	ENSG00000170419	ENSG00000170419		"Immunoglobulin superfamily / V-set domain containing"	28499	protein-coding gene	gene with protein product			"V-set and transmembrane domain containing 2"	VSTM2		12477932	Standard	XM_006715663		Approved	MGC33530	uc010kzf.3	Q8TAG5	OTTHUMG00000129271	ENST00000407838.3:c.572G>A	7.37:g.54617801G>A	ENSP00000384967:p.Arg191Gln					VSTM2A_ENST00000407838.3_Missense_Mutation_p.R191Q|VSTM2A_ENST00000402026.2_Missense_Mutation_p.R190Q|VSTM2A_ENST00000498834.1_3'UTR|VSTM2A_ENST00000402613.3_Missense_Mutation_p.R191Q|VSTM2A_ENST00000404951.1_Missense_Mutation_p.R191Q	p.R191Q			Q8TAG5	VTM2A_HUMAN	STAD - Stomach adenocarcinoma(5;0.0525)		4	978	+			191					A4D2E9|B5MC94	Missense_Mutation	SNP	ENST00000407838.3	37	c.572G>A	CCDS5512.2	.	.	.	.	.	.	.	.	.	.	G	4.326	0.059829	0.08339	.	.	ENSG00000170419	ENST00000302287;ENST00000407838;ENST00000404951;ENST00000402026;ENST00000402613	T;T;T;T;T	0.49720	0.8;0.8;0.77;0.8;0.78	5.06	-0.184	0.13280	.	0.424107	0.25261	N	0.031960	T	0.34135	0.0887	L	0.45581	1.43	0.22880	N	0.998611	B;B;B	0.16166	0.016;0.003;0.002	B;B;B	0.10450	0.002;0.005;0.002	T	0.21075	-1.0256	10	0.22706	T	0.39	-1.6761	8.5239	0.33293	0.6007:0.0:0.3993:0.0	.	191;191;191	Q8TAG5;Q8TAG5-2;B5MCX6	VTM2A_HUMAN;.;.	Q	191;191;191;190;191	ENSP00000303108:R191Q;ENSP00000384967:R191Q;ENSP00000384701:R191Q;ENSP00000385933:R190Q;ENSP00000384103:R191Q	ENSP00000303108:R191Q	R	+	2	0	VSTM2A	54585295	0.004000	0.15560	0.183000	0.23137	0.019000	0.09904	0.052000	0.14163	-0.022000	0.13986	-0.137000	0.14449	CGA		0.547	VSTM2A-003	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318694.1	NM_182546		7	13	0	0	0	1	0	7	13					A	54617801	G	A	54617801	3	1	264	1	0	0	0	0	1	0	0	0	17226	1058	37	2	586	2	VSTM2A	7	54617801	Missense_Mutation	SNP	G	TCGA-J4-A67K-01A-21D-A30E-08		54617801	104520862	19	12378											
MUC17	140453	broad.mit.edu	37	chr7	100680909	100680909	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ttcaacaactcctgttgactCcaaaactcaggtgaccaatt	13	11	5	12	0	2	2	2	2	0	0	4	2	4	2	3	1	3	1	3	1	5	3			TCGA-J4-A67K-01A-21D-A30E-08	TCGA-J4-A67K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68e09db6-a35c-43fc-ac1f-c5b66bb3ae2b	838d6528-8be3-48aa-887b-614a711bddf4	g.chr7:100680909C>T	ENST00000306151.4	+	3	6276	c.6212C>T	c.(6211-6213)tCc>tTc	p.S2071F		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	2071	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CCTGTTGACTCCAAAACTCAG	0.488																																						ENST00000306151.4																			0				NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343						c.(6211-6213)tCc>tTc		mucin 17, cell surface associated							172	168	170					7																	100680909		2203	4300	6503	SO:0001583	missense	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100680909C>T	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"Mucins"	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.6212C>T	7.37:g.100680909C>T	ENSP00000302716:p.Ser2071Phe						p.S2071F	NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN			3	6276	+	Lung NSC(181;0.136)|all_lung(186;0.182)		2071			59 X approximate tandem repeats.|Ser-rich.		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	c.6212C>T	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	C	1.153	-0.646060	0.03531	.	.	ENSG00000169876	ENST00000306151	T	0.02682	4.2	0.512	0.512	0.16994	.	.	.	.	.	T	0.01523	0.0049	N	0.08118	0	0.09310	N	1	B	0.14438	0.01	B	0.12837	0.008	T	0.47497	-0.9113	9	0.36615	T	0.2	.	3.0115	0.06046	0.0:0.6249:0.0:0.3751	.	2071	Q685J3	MUC17_HUMAN	F	2071	ENSP00000302716:S2071F	ENSP00000302716:S2071F	S	+	2	0	MUC17	100467629	0.000000	0.05858	0.002000	0.10522	0.012000	0.07955	-0.158000	0.10070	0.551000	0.29008	0.134000	0.15878	TCC		0.488	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		83	215	0	0	0	1	0	83	215					T	100680909	C	T	100680909	3	4	264	1	0	0	0	0	1	0	0	0	9974	855	30	3	6222	3	MUC17	7	100680909	Missense_Mutation	SNP	C	TCGA-J4-A67K-01A-21D-A30E-08	46063108	100680909	58457754	20	12379											
BNC2	54796	broad.mit.edu	37	chr9	16436375	16436375	+	Frame_Shift_Del	DEL	G	G	-																															ctactggctcagagggtggcGgggggtgctgctctatggta																								rs116528562	byFrequency	TCGA-J4-A67K-01A-21D-A30E-08	TCGA-J4-A67K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68e09db6-a35c-43fc-ac1f-c5b66bb3ae2b	838d6528-8be3-48aa-887b-614a711bddf4	g.chr9:16436375delG	ENST00000380672.4	-	6	1874	c.1817delC	c.(1816-1818)ccgfs	p.P608fs	BNC2_ENST00000545497.1_Frame_Shift_Del_p.P513fs|BNC2_ENST00000380666.2_Frame_Shift_Del_p.P608fs|BNC2_ENST00000380667.2_Frame_Shift_Del_p.P541fs	NM_017637.5	NP_060107.3			basonuclin 2											NS(2)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(16)|liver(1)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(50;9.01e-08)		AGAGGGTGGCGGGGGGTGCTG	0.562																																						ENST00000380672.4																			0				NS(2)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(16)|liver(1)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	60						c.(1816-1818)cgfs		basonuclin 2							61	63	62					9																	16436375		2203	4300	6503	SO:0001589	frameshift_variant	54796				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	zinc ion binding	g.chr9:16436375delG	AK092247	CCDS6482.2	9p22.2	2013-05-20			ENSG00000173068	ENSG00000173068		"Zinc fingers, C2H2-type"	30988	protein-coding gene	gene with protein product		608669				14702039	Standard	XM_006716784		Approved	BSN2, FLJ20043	uc003zml.3	Q6ZN30	OTTHUMG00000019593	ENST00000380672.4:c.1817delC	9.37:g.16436375delG	ENSP00000370047:p.Pro608fs					BNC2_ENST00000380666.2_Frame_Shift_Del_p.P608fs|BNC2_ENST00000545497.1_Frame_Shift_Del_p.P513fs|BNC2_ENST00000380667.2_Frame_Shift_Del_p.P541fs	p.P608fs	NM_017637.5	NP_060107.3	Q6ZN30	BNC2_HUMAN		GBM - Glioblastoma multiforme(50;9.01e-08)	6	1874	-			608			Pro-rich.			Frame_Shift_Del	DEL	ENST00000380672.4	37	c.1817delC	CCDS6482.2																																																																																				0.562	BNC2-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000216901.5	NM_017637		28	127						28	127	---	---	---	---	-	16436375	G	-	16436375	7	5	264	1	0	1	0	1	0	0	0	0	1475	1116	39	0	1490	0	BNC2	9	16436375	Frame_Shift_Del	DEL	G	TCGA-J4-A67K-01A-21D-A30E-08		16436375	124777056	21	12380											
BNC2	54796	broad.mit.edu	37	chr9	16436741	16436741	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cactgtggcgattacgacttCggagggagctaaagaccatg	11	8	13	9	3	0	1	0	0	0	1	1	5	0	3	1	3	2	1	1	3	3	3			TCGA-J4-A67K-01A-21D-A30E-08	TCGA-J4-A67K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68e09db6-a35c-43fc-ac1f-c5b66bb3ae2b	838d6528-8be3-48aa-887b-614a711bddf4	g.chr9:16436741C>T	ENST00000380672.4	-	6	1508	c.1451G>A	c.(1450-1452)cGa>cAa	p.R484Q	BNC2_ENST00000545497.1_Missense_Mutation_p.R389Q|BNC2_ENST00000380666.2_Missense_Mutation_p.R484Q|BNC2_ENST00000380667.2_Missense_Mutation_p.R417Q	NM_017637.5	NP_060107.3			basonuclin 2											NS(2)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(16)|liver(1)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(50;9.01e-08)		ATTACGACTTCGGAGGGAGCT	0.448																																						ENST00000380672.4																			0				NS(2)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(16)|liver(1)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	60						c.(1450-1452)cGa>cAa		basonuclin 2							144	134	137					9																	16436741		2203	4300	6503	SO:0001583	missense	54796				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	zinc ion binding	g.chr9:16436741C>T	AK092247	CCDS6482.2	9p22.2	2013-05-20			ENSG00000173068	ENSG00000173068		"Zinc fingers, C2H2-type"	30988	protein-coding gene	gene with protein product		608669				14702039	Standard	XM_006716784		Approved	BSN2, FLJ20043	uc003zml.3	Q6ZN30	OTTHUMG00000019593	ENST00000380672.4:c.1451G>A	9.37:g.16436741C>T	ENSP00000370047:p.Arg484Gln					BNC2_ENST00000380666.2_Missense_Mutation_p.R484Q|BNC2_ENST00000545497.1_Missense_Mutation_p.R389Q|BNC2_ENST00000380667.2_Missense_Mutation_p.R417Q	p.R484Q	NM_017637.5	NP_060107.3	Q6ZN30	BNC2_HUMAN		GBM - Glioblastoma multiforme(50;9.01e-08)	6	1508	-			484						Missense_Mutation	SNP	ENST00000380672.4	37	c.1451G>A	CCDS6482.2	.	.	.	.	.	.	.	.	.	.	C	22.5	4.303448	0.81136	.	.	ENSG00000173068	ENST00000380672;ENST00000418777;ENST00000380667;ENST00000545497;ENST00000544198;ENST00000380666;ENST00000540340	T;T;T;T;T	0.27890	1.64;1.64;1.64;1.64;1.64	5.88	5.88	0.94601	Zinc finger, C2H2-like (1);	0.000000	0.85682	D	0.000000	T	0.59676	0.2211	M	0.74467	2.265	0.80722	D	1	D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;0.999;1.0;1.0;0.997;1.0;0.999;1.0	D;D;D;D;D;D;D;D;D	0.97110	1.0;0.995;0.99;1.0;0.992;0.953;0.996;0.986;0.996	T	0.59716	-0.7402	10	0.66056	D	0.02	-8.9021	20.2422	0.98381	0.0:1.0:0.0:0.0	.	389;417;484;310;484;441;484;389;249	F5H586;B1APH0;Q6ZN30-2;B4E3J2;F5H8G9;Q5H9S4;Q6ZN30;B4DR27;D3DRJ1	.;.;.;.;.;.;BNC2_HUMAN;.;.	Q	484;441;417;389;310;484;484	ENSP00000370047:R484Q;ENSP00000408370:R441Q;ENSP00000370042:R417Q;ENSP00000444640:R389Q;ENSP00000370041:R484Q	ENSP00000370041:R484Q	R	-	2	0	BNC2	16426741	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.818000	0.86416	2.782000	0.95742	0.655000	0.94253	CGA		0.448	BNC2-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000216901.5	NM_017637		10	105	0	0	0	1	0	10	105					T	16436741	C	T	16436741	3	4	264	1	0	0	0	0	1	0	0	0	1475	884	31	2	1856	2	BNC2	9	16436741	Missense_Mutation	SNP	C	TCGA-J4-A67K-01A-21D-A30E-08	366	16436741	124776690	22	12381											
C9orf156	51531	broad.mit.edu	37	chr9	100675695	100675695	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tgggttaccttctaccttttCcagcttggccagggtcagtc	5	14	10	12	0	2	0	1	0	1	0	4	0	3	0	4	3	3	2	4	3	2	6			TCGA-J4-A67K-01A-21D-A30E-08	TCGA-J4-A67K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68e09db6-a35c-43fc-ac1f-c5b66bb3ae2b	838d6528-8be3-48aa-887b-614a711bddf4	g.chr9:100675695C>T	ENST00000375119.3	-	3	473	c.397G>A	c.(397-399)Gaa>Aaa	p.E133K	C9orf156_ENST00000478126.1_5'UTR|Y_RNA_ENST00000364960.1_RNA	NM_016481.3	NP_057565.3	Q9BU70	NAP1_HUMAN	chromosome 9 open reading frame 156	133	TsaA-like. {ECO:0000255|PROSITE- ProRule:PRU01003}.				viral process (GO:0016032)		hydrolase activity (GO:0016787)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)|prostate(1)|skin(1)	13		Acute lymphoblastic leukemia(62;0.158)				TCTACCTTTTCCAGCTTGGCC	0.433																																						ENST00000375119.3																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)|prostate(1)|skin(1)	13						c.(397-399)Gaa>Aaa		chromosome 9 open reading frame 156							131	128	129					9																	100675695		2203	4300	6503	SO:0001583	missense	51531				interspecies interaction between organisms		hydrolase activity	g.chr9:100675695C>T	AK023069	CCDS6730.1	9q31.1	2011-03-02			ENSG00000136932	ENSG00000136932			30967	protein-coding gene	gene with protein product	"Nef (lentivirus myristoylated factor) associated protein 1"						Standard	NM_016481		Approved	HSPC219, NAP1	uc004axv.1	Q9BU70	OTTHUMG00000021007	ENST00000375119.3:c.397G>A	9.37:g.100675695C>T	ENSP00000364260:p.Glu133Lys					C9orf156_ENST00000478126.1_5'UTR	p.E133K	NM_016481.3	NP_057565.3	Q9BU70	NAP1_HUMAN			3	473	-		Acute lymphoblastic leukemia(62;0.158)	133					Q5T113|Q86SK0|Q9NXJ7|Q9P0Q7	Missense_Mutation	SNP	ENST00000375119.3	37	c.397G>A	CCDS6730.1	.	.	.	.	.	.	.	.	.	.	C	28.9	4.961296	0.92791	.	.	ENSG00000136932	ENST00000375119;ENST00000375117;ENST00000455506	T;T;T	0.44083	0.93;0.93;0.93	5.76	5.76	0.90799	Uncharacterised domain UPF0066, YaeB-like domain (2);Uncharacterised domain UPF0066 (2);	0.340989	0.34435	N	0.003973	T	0.51143	0.1657	L	0.43701	1.375	0.80722	D	1	P	0.46578	0.88	P	0.54965	0.765	T	0.17471	-1.0368	10	0.23302	T	0.38	-3.6266	17.8217	0.88652	0.0:1.0:0.0:0.0	.	133	Q9BU70	NAP1_HUMAN	K	133;132;131	ENSP00000364260:E133K;ENSP00000364258:E132K;ENSP00000408473:E131K	ENSP00000364258:E132K	E	-	1	0	C9orf156	99715516	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.361000	0.73070	2.890000	0.99128	0.655000	0.94253	GAA		0.433	C9orf156-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055401.1	NM_016481		27	62	0	0	0	1	0	27	62					T	100675695	C	T	100675695	3	4	264	1	0	0	0	0	1	0	0	0	2465	864	30	3	940	3	C9orf156	9	100675695	Missense_Mutation	SNP	C	TCGA-J4-A67K-01A-21D-A30E-08	84238954	100675695	40537736	23	12382											
RGS3	5998	broad.mit.edu	37	chr9	116356367	116356367	+	Intron	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	gtccctcccatttcctggctCctcctgtctgagtcccagcc	3	12	7	19	0	1	1	0	1	1	0	7	1	7	1	7	1	1	1	7	1	0	1			TCGA-J4-A67K-01A-21D-A30E-08	TCGA-J4-A67K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68e09db6-a35c-43fc-ac1f-c5b66bb3ae2b	838d6528-8be3-48aa-887b-614a711bddf4	g.chr9:116356367C>G	ENST00000374140.2	+	23	3289				RGS3_ENST00000394646.3_Intron|RGS3_ENST00000374134.3_Intron|RGS3_ENST00000462403.1_Silent_p.L56L|RGS3_ENST00000350696.5_Intron|RGS3_ENST00000343817.5_Intron|RGS3_ENST00000462143.1_Intron|RGS3_ENST00000342620.5_Intron	NM_001282923.1|NM_144488.4	NP_001269852.1|NP_652759.3	P49796	RGS3_HUMAN	regulator of G-protein signaling 3						inactivation of MAPK activity (GO:0000188)|positive regulation of GTPase activity (GO:0043547)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)			cervix(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	48						TTTCCTGGCTCCTCCTGTCTG	0.612																																						ENST00000462403.1																			0				cervix(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	48						c.(166-168)ctC>ctG		regulator of G-protein signaling 3							76	86	82					9																	116356367		2203	4299	6502	SO:0001627	intron_variant	5998				inactivation of MAPK activity|regulation of G-protein coupled receptor protein signaling pathway	cytosol|nucleus|plasma membrane	GTPase activator activity|signal transducer activity	g.chr9:116356367C>G	AF006610	CCDS6797.1, CCDS6798.1, CCDS35113.1, CCDS35114.1, CCDS43869.1, CCDS65111.1	9q32	2008-02-05	2007-08-14		ENSG00000138835	ENSG00000138835		"Regulators of G-protein signaling"	9999	protein-coding gene	gene with protein product		602189	"regulator of G-protein signalling 3"			8602223, 11034339	Standard	NM_001276260		Approved	C2PA, FLJ20370, PDZ-RGS3	uc004bhq.4	P49796	OTTHUMG00000021048	ENST00000374140.2:c.3081-343C>G	9.37:g.116356367C>G						RGS3_ENST00000350696.5_Intron|RGS3_ENST00000462143.1_Intron|RGS3_ENST00000374134.3_Intron|RGS3_ENST00000374140.2_Intron|RGS3_ENST00000394646.3_Intron|RGS3_ENST00000343817.5_Intron|RGS3_ENST00000342620.5_Intron	p.L56L	NM_144489.2	NP_652760.2	P49796	RGS3_HUMAN			1	602	+			0					A6NHA0|A8K0V1|B3KUB2|Q5VXB8|Q5VXC1|Q5VZ05|Q5VZ06|Q6ZRM5|Q8IUQ1|Q8NC47|Q8NFN4|Q8NFN5|Q8NFN6|Q8TD59|Q8TD68|Q8WV02|Q8WXA0	Silent	SNP	ENST00000374140.2	37	c.168C>G	CCDS43869.1																																																																																				0.612	RGS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055561.3	NM_017790		33	212	0	0	0	1	0	33	212					G	116356367	C	G	116356367	1	3	264	0	1	0	0	0	0	0	0	0	13306	842	30	5		5	RGS3	9	116356367	Intron	SNP	C	TCGA-J4-A67K-01A-21D-A30E-08	15680672	116356367	24857064	24	12383											
IFFO1	25900	broad.mit.edu	37	chr12	6657960	6657960	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cctcctcgacggcagccttgCgctcccgcttccgccccccc	2	7	8	24	5	0	0	0	0	0	0	4	1	3	0	8	1	2	3	8	1	0	2	rs149041603		TCGA-J4-A67K-01A-21D-A30E-08	TCGA-J4-A67K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68e09db6-a35c-43fc-ac1f-c5b66bb3ae2b	838d6528-8be3-48aa-887b-614a711bddf4	g.chr12:6657960C>T	ENST00000396840.2	-	5	1144	c.1103G>A	c.(1102-1104)cGc>cAc	p.R368H	IFFO1_ENST00000336604.4_Missense_Mutation_p.R371H|IFFO1_ENST00000356896.4_Missense_Mutation_p.R371H|IFFO1_ENST00000436152.2_Missense_Mutation_p.R64H|IFFO1_ENST00000465801.1_Missense_Mutation_p.R64H			Q0D2I5	IFFO1_HUMAN	intermediate filament family orphan 1	368						intermediate filament (GO:0005882)				central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	20						GGCAGCCTTGCGCTCCCGCTT	0.657																																						ENST00000436152.2																			0				central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	20						c.(190-192)cGc>cAc		intermediate filament family orphan 1		C	HIS/ARG,HIS/ARG,HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	30	27	28		1112,1136,1112	3.3	1	12	dbSNP_134	28	0,8600		0,0,4300	yes	missense,missense,missense	IFFO1	NM_001039670.2,NM_001193457.1,NM_080730.4	29,29,29	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging,probably-damaging,probably-damaging	371/564,379/572,371/563	6657960	1,13005	2203	4300	6503	SO:0001583	missense	25900					intermediate filament		g.chr12:6657960C>T	AF124432	CCDS8550.1, CCDS41741.1, CCDS8550.2, CCDS73425.1	12p13.31	2013-01-16	2008-09-11	2008-09-11	ENSG00000010295	ENSG00000010295		"Intermediate filament family orphans"	24970	protein-coding gene	gene with protein product		610495	"intermediate filament family orphan"	IFFO		8771189, 3052284	Standard	NM_001193457		Approved	HOM-TES-103	uc010sfe.2	Q0D2I5	OTTHUMG00000141264	ENST00000396840.2:c.1103G>A	12.37:g.6657960C>T	ENSP00000380052:p.Arg368His					IFFO1_ENST00000396840.2_Missense_Mutation_p.R368H|IFFO1_ENST00000356896.4_Missense_Mutation_p.R371H|IFFO1_ENST00000465801.1_Missense_Mutation_p.R64H|IFFO1_ENST00000336604.4_Missense_Mutation_p.R371H	p.R64H			Q0D2I5	IFFO1_HUMAN			7	750	-			368					Q24JT6|Q7L5J9|Q7Z5X4|Q9BQ46	Missense_Mutation	SNP	ENST00000396840.2	37	c.191G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.4|21.4	4.137691|4.137691	0.77775|0.77775	2.27E-4|2.27E-4	0.0|0.0	ENSG00000010295|ENSG00000010295	ENST00000416019|ENST00000436152;ENST00000465801;ENST00000336604;ENST00000396840;ENST00000356896;ENST00000423501	.|D;D;D;D;D	.|0.92595	.|-3.07;-3.01;-2.64;-2.6;-2.7	4.26|4.26	3.35|3.35	0.38373|0.38373	.|.	.|0.173953	.|0.39146	.|N	.|0.001456	D|D	0.94801|0.94801	0.8321|0.8321	M|M	0.65498|0.65498	2.005|2.005	0.52501|0.52501	D|D	0.99995|0.99995	.|D;D;D;D;D;D	.|0.89917	.|0.998;1.0;0.998;0.998;0.998;1.0	.|P;D;P;P;P;D	.|0.72338	.|0.881;0.977;0.881;0.881;0.881;0.969	D|D	0.94569|0.94569	0.7769|0.7769	5|10	.|0.62326	.|D	.|0.03	-12.9043|-12.9043	13.5503|13.5503	0.61728|0.61728	0.1572:0.8428:0.0:0.0|0.1572:0.8428:0.0:0.0	.|.	.|370;63;371;368;371;72	.|Q0D2I5-7;Q6P593;Q0D2I5-4;Q0D2I5;Q0D2I5-5;B4DQQ1	.|.;.;.;IFFO1_HUMAN;.;.	T|H	102|64;64;371;368;371;8	.|ENSP00000390721:R64H;ENSP00000436261:R64H;ENSP00000337593:R371H;ENSP00000380052:R368H;ENSP00000349364:R371H	.|ENSP00000337593:R371H	A|R	-|-	1|2	0|0	IFFO1|IFFO1	6528221|6528221	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	6.699000|6.699000	0.74613|0.74613	0.879000|0.879000	0.35944|0.35944	0.655000|0.655000	0.94253|0.94253	GCA|CGC		0.657	IFFO1-008	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000280428.1	NM_080730		3	31	0	0	0	1	0	3	31					T	6657960	C	T	6657960	3	4	264	1	0	0	0	0	1	0	0	0	7510	768	27	1	599	1	IFFO1	12	6657960	Missense_Mutation	SNP	C	TCGA-J4-A67K-01A-21D-A30E-08		6657960	127193935	25	12384											
GUCY2C	2984	broad.mit.edu	37	chr12	14804406	14804406	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtatcaagtttcactgtgcCgtagaacttggtcaggttgt	8	14	12	7	1	3	1	3	0	0	1	3	1	3	1	1	3	2	4	1	3	4	5	rs367698688	byFrequency	TCGA-J4-A67K-01A-21D-A30E-08	TCGA-J4-A67K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68e09db6-a35c-43fc-ac1f-c5b66bb3ae2b	838d6528-8be3-48aa-887b-614a711bddf4	g.chr12:14804406C>G	ENST00000261170.3	-	15	1781	c.1645G>C	c.(1645-1647)Ggc>Cgc	p.G549R		NM_004963.3	NP_004954.2	P25092	GUC2C_HUMAN	guanylate cyclase 2C (heat stable enterotoxin receptor)	549	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				intracellular signal transduction (GO:0035556)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of cell proliferation (GO:0042127)|response to toxic substance (GO:0009636)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|protein kinase activity (GO:0004672)|toxic substance binding (GO:0015643)	p.G549C(1)		breast(3)|endometrium(7)|kidney(3)|large_intestine(9)|lung(17)|ovary(4)|skin(7)|urinary_tract(1)	51					Linaclotide(DB08890)	TTCACTGTGCCGTAGAACTTG	0.403																																						ENST00000261170.3																			1	Substitution - Missense(1)	p.G549C(1)	breast(1)	breast(3)|endometrium(7)|kidney(3)|large_intestine(9)|lung(17)|ovary(4)|skin(7)|urinary_tract(1)	51						c.(1645-1647)Ggc>Cgc		guanylate cyclase 2C (heat stable enterotoxin receptor)							107	95	99					12																	14804406		2203	4300	6503	SO:0001583	missense	2984				intracellular signal transduction|receptor guanylyl cyclase signaling pathway	integral to membrane	ATP binding|GTP binding|guanylate cyclase activity|protein binding|protein kinase activity|receptor activity	g.chr12:14804406C>G		CCDS8664.1	12p12	2008-08-18			ENSG00000070019	ENSG00000070019			4688	protein-coding gene	gene with protein product		601330		GUC2C		8661067	Standard	NM_004963		Approved	STAR	uc001rcd.3	P25092	OTTHUMG00000168732	ENST00000261170.3:c.1645G>C	12.37:g.14804406C>G	ENSP00000261170:p.Gly549Arg						p.G549R	NM_004963.3	NP_004954.2	P25092	GUC2C_HUMAN			15	1781	-			549			Protein kinase.		B2RMY6	Missense_Mutation	SNP	ENST00000261170.3	37	c.1645G>C	CCDS8664.1	.	.	.	.	.	.	.	.	.	.	C	20.1	3.935780	0.73442	.	.	ENSG00000070019	ENST00000261170	D	0.89196	-2.48	5.55	5.55	0.83447	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.95781	0.8627	M	0.90425	3.115	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96226	0.9164	10	0.87932	D	0	.	19.5182	0.95174	0.0:1.0:0.0:0.0	.	549	P25092	GUC2C_HUMAN	R	549	ENSP00000261170:G549R	ENSP00000261170:G549R	G	-	1	0	GUCY2C	14695673	1.000000	0.71417	1.000000	0.80357	0.314000	0.28054	7.420000	0.80191	2.603000	0.88011	0.655000	0.94253	GGC		0.403	GUCY2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400835.1			10	42	0	0	0	1	0	10	42					G	14804406	C	G	14804406	3	3	264	1	0	0	0	0	1	0	0	0	6896	652	23	5	1628	5	GUCY2C	12	14804406	Missense_Mutation	SNP	C	TCGA-J4-A67K-01A-21D-A30E-08	8146446	14804406	119047489	26	12385											
TPTE2	93492	broad.mit.edu	37	chr13	20056679	20056679	+	Missense_Mutation	SNP	T	T	G																															cttcaaacttggaaagtcgtTctaacatactttagccacca																								rs200244531		TCGA-J4-A67K-01A-21D-A30E-08	TCGA-J4-A67K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68e09db6-a35c-43fc-ac1f-c5b66bb3ae2b	838d6528-8be3-48aa-887b-614a711bddf4	g.chr13:20056679T>G	ENST00000400230.2	-	4	172	c.128A>C	c.(127-129)gAa>gCa	p.E43A	TPTE2_ENST00000255310.6_Intron|TPTE2_ENST00000382975.4_Missense_Mutation_p.E43A|TPTE2_ENST00000400103.2_Missense_Mutation_p.E43A|TPTE2_ENST00000390680.2_Intron|TPTE2_ENST00000457266.2_Missense_Mutation_p.E43A|TPTE2_ENST00000382977.4_Missense_Mutation_p.E43A|TPTE2_ENST00000382978.1_Missense_Mutation_p.E43A			Q6XPS3	TPTE2_HUMAN	transmembrane phosphoinositide 3-phosphatase and tensin homolog 2	43					phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	ion channel activity (GO:0005216)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.E43A(1)		NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)		GGAAAGTCGTTCTAACATACT	0.313																																						ENST00000400230.2																			1	Substitution - Missense(1)	p.E43A(1)	kidney(1)	NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						c.(127-129)gAa>gCa		transmembrane phosphoinositide 3-phosphatase and tensin homolog 2							52	51	51					13																	20056679		2201	4299	6500	SO:0001583	missense	93492					endoplasmic reticulum membrane|integral to membrane	ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr13:20056679T>G	AJ421032	CCDS9285.1, CCDS45013.1, CCDS45014.1	13q12.11	2012-12-10			ENSG00000132958	ENSG00000132958		"Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"	17299	protein-coding gene	gene with protein product		606791				11716755, 12717346, 15057823	Standard	NM_130785		Approved	TPIP	uc001umd.3	Q6XPS3	OTTHUMG00000016493	ENST00000400230.2:c.128A>C	13.37:g.20056679T>G	ENSP00000383089:p.Glu43Ala					TPTE2_ENST00000382977.4_Missense_Mutation_p.E43A|TPTE2_ENST00000390680.2_Intron|TPTE2_ENST00000382978.1_Missense_Mutation_p.E43A|TPTE2_ENST00000400103.2_Missense_Mutation_p.E43A|TPTE2_ENST00000255310.6_Intron|TPTE2_ENST00000382975.4_Missense_Mutation_p.E43A|TPTE2_ENST00000457266.2_Missense_Mutation_p.E43A	p.E43A			Q6XPS3	TPTE2_HUMAN		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)	4	172	-		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)	43					A1A4X0|A1A4X1|A8MX64|B1AQ16|B4DWZ2|Q5VUH2|Q8WWL4|Q8WWL5	Missense_Mutation	SNP	ENST00000400230.2	37	c.128A>C	CCDS45014.1	.	.	.	.	.	.	.	.	.	.	T	2.387	-0.340821	0.05243	.	.	ENSG00000132958	ENST00000382978;ENST00000400103;ENST00000400230;ENST00000382977;ENST00000382975;ENST00000457266;ENST00000343548	D;D;D;D;D;D	0.94931	-3.56;-3.53;-3.47;-3.47;-3.56;-3.53	2.06	0.858	0.19030	.	0.878504	0.09602	U	0.780065	D	0.86159	0.5866	N	0.21448	0.665	0.09310	N	1	B;B	0.28850	0.225;0.0	B;B	0.19946	0.027;0.0	T	0.74598	-0.3612	9	.	.	.	-0.5937	3.8365	0.08896	0.0:0.192:0.0:0.808	.	43;43	A8MX64;Q6XPS3	.;TPTE2_HUMAN	A	43	ENSP00000372438:E43A;ENSP00000382974:E43A;ENSP00000383089:E43A;ENSP00000372437:E43A;ENSP00000372435:E43A;ENSP00000442218:E43A	.	E	-	2	0	TPTE2	18954679	0.001000	0.12720	0.001000	0.08648	0.004000	0.04260	0.422000	0.21296	0.241000	0.21283	0.383000	0.25322	GAA		0.313	TPTE2-205	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_199254		3	69	0	0	0	1	0	3	69					G	20056679	T	G	20056679	3	3	264	1	0	0	0	0	1	0	0	0	16428	1783	62	5	1508	5	TPTE2	13	20056679	Missense_Mutation	SNP	T	TCGA-J4-A67K-01A-21D-A30E-08		20056679	95113199	27	12386	64	2									
TPTE2	93492	broad.mit.edu	37	chr13	20056686	20056686	+	Splice_Site	SNP	T	T	C																															cttggaaagtcgttctaacaTactttagccaccaaaaaaaa																								rs201542496		TCGA-J4-A67K-01A-21D-A30E-08	TCGA-J4-A67K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68e09db6-a35c-43fc-ac1f-c5b66bb3ae2b	838d6528-8be3-48aa-887b-614a711bddf4	g.chr13:20056686T>C	ENST00000400230.2	-	4	165	c.121A>G	c.(121-123)Atg>Gtg	p.M41V	TPTE2_ENST00000255310.6_Intron|TPTE2_ENST00000382975.4_Splice_Site_p.M41V|TPTE2_ENST00000400103.2_Splice_Site_p.M41V|TPTE2_ENST00000390680.2_Intron|TPTE2_ENST00000457266.2_Splice_Site_p.M41V|TPTE2_ENST00000382977.4_Splice_Site_p.M41V|TPTE2_ENST00000382978.1_Splice_Site_p.M41V			Q6XPS3	TPTE2_HUMAN	transmembrane phosphoinositide 3-phosphatase and tensin homolog 2	41					phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	ion channel activity (GO:0005216)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)		CGTTCTAACATACTTTAGCCA	0.313																																						ENST00000400230.2																			0				NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						c.e4-1		transmembrane phosphoinositide 3-phosphatase and tensin homolog 2							47	46	47					13																	20056686		2202	4298	6500	SO:0001630	splice_region_variant	93492					endoplasmic reticulum membrane|integral to membrane	ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr13:20056686T>C	AJ421032	CCDS9285.1, CCDS45013.1, CCDS45014.1	13q12.11	2012-12-10			ENSG00000132958	ENSG00000132958		"Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"	17299	protein-coding gene	gene with protein product		606791				11716755, 12717346, 15057823	Standard	NM_130785		Approved	TPIP	uc001umd.3	Q6XPS3	OTTHUMG00000016493	ENST00000400230.2:c.120-1A>G	13.37:g.20056686T>C						TPTE2_ENST00000382977.4_Splice_Site_p.M41_splice|TPTE2_ENST00000390680.2_Intron|TPTE2_ENST00000382978.1_Splice_Site_p.M41_splice|TPTE2_ENST00000400103.2_Splice_Site_p.M41_splice|TPTE2_ENST00000255310.6_Intron|TPTE2_ENST00000382975.4_Splice_Site_p.M41_splice|TPTE2_ENST00000457266.2_Splice_Site_p.M41_splice	p.M41_splice			Q6XPS3	TPTE2_HUMAN		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)	4	165	-		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)	41					A1A4X0|A1A4X1|A8MX64|B1AQ16|B4DWZ2|Q5VUH2|Q8WWL4|Q8WWL5	Splice_Site	SNP	ENST00000400230.2	37	c.119_splice	CCDS45014.1	.	.	.	.	.	.	.	.	.	.	T	0	-2.805163	0.00075	.	.	ENSG00000132958	ENST00000382978;ENST00000400103;ENST00000400230;ENST00000382977;ENST00000382975;ENST00000457266;ENST00000343548	D;D;D;D;D;D	0.94376	-3.41;-3.33;-3.28;-3.28;-3.41;-3.33	2.06	0.838	0.18902	.	0.589765	0.15086	U	0.281346	D	0.83399	0.5246	N	0.19112	0.55	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.68424	-0.5412	9	.	.	.	0.2742	3.9369	0.09310	0.0:0.1886:0.0:0.8114	.	41;41	A8MX64;Q6XPS3	.;TPTE2_HUMAN	V	41	ENSP00000372438:M41V;ENSP00000382974:M41V;ENSP00000383089:M41V;ENSP00000372437:M41V;ENSP00000372435:M41V;ENSP00000442218:M41V	.	M	-	1	0	TPTE2	18954686	0.001000	0.12720	0.000000	0.03702	0.001000	0.01503	-0.105000	0.10907	0.235000	0.21160	0.383000	0.25322	ATG		0.313	TPTE2-205	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_199254	Missense_Mutation	4	66	0	0	0	1	0	4	66					C	20056686	T	C	20056686	5	2	264	1	0	0	0	0	0	0	1	0	16428	1420	49	4	1515	4	TPTE2	13	20056686	Splice_Site	SNP	T	TCGA-J4-A67K-01A-21D-A30E-08	7	20056686	95113192	28	12387	64	2									
PKD1	5310	broad.mit.edu	37	chr16	2161134	2161134	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccgcgtgaagttgtgtgtcAccgtcgggcacccccgcacg	5	8	13	15	6	1	1	1	1	0	0	3	1	2	1	4	1	0	3	4	1	1	1			TCGA-J4-A67K-01A-21D-A30E-08	TCGA-J4-A67K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68e09db6-a35c-43fc-ac1f-c5b66bb3ae2b	838d6528-8be3-48aa-887b-614a711bddf4	g.chr16:2161134A>C	ENST00000262304.4	-	15	4242	c.4034T>G	c.(4033-4035)gTg>gGg	p.V1345G	RP11-304L19.4_ENST00000568795.1_RNA|PKD1_ENST00000423118.1_Missense_Mutation_p.V1345G	NM_001009944.2	NP_001009944	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	1345	PKD 8. {ECO:0000255|PROSITE- ProRule:PRU00151}.				anatomical structure morphogenesis (GO:0009653)|branching morphogenesis of an epithelial tube (GO:0048754)|calcium ion transmembrane transport (GO:0070588)|calcium-independent cell-matrix adhesion (GO:0007161)|cartilage condensation (GO:0001502)|cartilage development (GO:0051216)|cation transmembrane transport (GO:0098655)|cell cycle arrest (GO:0007050)|cell-matrix adhesion (GO:0007160)|cytoplasmic sequestering of transcription factor (GO:0042994)|detection of mechanical stimulus (GO:0050982)|digestive tract development (GO:0048565)|embryonic placenta development (GO:0001892)|genitalia development (GO:0048806)|heart development (GO:0007507)|homophilic cell adhesion (GO:0007156)|in utero embryonic development (GO:0001701)|JAK-STAT cascade (GO:0007259)|kidney development (GO:0001822)|liver development (GO:0001889)|lung epithelium development (GO:0060428)|mesonephric duct development (GO:0072177)|mesonephric tubule development (GO:0072164)|metanephric ascending thin limb development (GO:0072218)|metanephric collecting duct development (GO:0072205)|metanephric distal tubule morphogenesis (GO:0072287)|metanephric proximal tubule development (GO:0072237)|neural tube development (GO:0021915)|neuropeptide signaling pathway (GO:0007218)|nitrogen compound metabolic process (GO:0006807)|peptidyl-serine phosphorylation (GO:0018105)|placenta blood vessel development (GO:0060674)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of protein binding (GO:0032092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein export from nucleus (GO:0006611)|regulation of mitotic spindle organization (GO:0060236)|regulation of proteasomal protein catabolic process (GO:0061136)|response to fluid shear stress (GO:0034405)|skin development (GO:0043588)|spinal cord development (GO:0021510)	basolateral plasma membrane (GO:0016323)|cilium (GO:0005929)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|motile primary cilium (GO:0031512)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|polycystin complex (GO:0002133)	calcium channel activity (GO:0005262)|carbohydrate binding (GO:0030246)|cation channel activity (GO:0005261)|ion channel binding (GO:0044325)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						GTTGTGTGTCACCGTCGGGCA	0.667																																						ENST00000262304.4																			0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						c.(4033-4035)gTg>gGg		polycystic kidney disease 1 (autosomal dominant)							32	34	33					16																	2161134		2191	4293	6484	SO:0001583	missense	5310				calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding	g.chr16:2161134A>C	L33243	CCDS32369.1, CCDS45385.1	16p13.3	2014-01-28			ENSG00000008710	ENSG00000008710		"Voltage-gated ion channels / Transient receptor potential cation channels"	9008	protein-coding gene	gene with protein product	"polycystin 1", "transient receptor potential cation channel, subfamily P, member 1"	601313					Standard	NM_001009944		Approved	PBP, Pc-1, TRPP1	uc002cos.1	P98161	OTTHUMG00000155795	ENST00000262304.4:c.4034T>G	16.37:g.2161134A>C	ENSP00000262304:p.Val1345Gly					PKD1_ENST00000423118.1_Missense_Mutation_p.V1345G	p.V1345G	NM_001009944.2	NP_001009944.2	P98161	PKD1_HUMAN			15	4242	-			1345			PKD 8.		Q15140|Q15141	Missense_Mutation	SNP	ENST00000262304.4	37	c.4034T>G	CCDS32369.1	.	.	.	.	.	.	.	.	.	.	a	15.82	2.947269	0.53186	.	.	ENSG00000008710	ENST00000262304;ENST00000423118;ENST00000306101	T;T	0.70282	-0.47;-0.47	5.58	5.58	0.84498	PKD/Chitinase domain (1);Polycystin cation channel (1);PKD domain (4);	0.202241	0.42053	D	0.000768	D	0.84297	0.5441	M	0.77616	2.38	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.91635	0.999;0.995	D	0.86487	0.1795	10	0.87932	D	0	.	15.7606	0.78076	1.0:0.0:0.0:0.0	.	1345;1345	P98161-3;P98161	.;PKD1_HUMAN	G	1345;1345;1026	ENSP00000262304:V1345G;ENSP00000399501:V1345G	ENSP00000262304:V1345G	V	-	2	0	PKD1	2101135	1.000000	0.71417	0.836000	0.33094	0.010000	0.07245	7.029000	0.76477	2.128000	0.65567	0.370000	0.22315	GTG		0.667	PKD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341688.1			18	45	0	0	0	1	0	18	45					C	2161134	A	C	2161134	3	2	264	1	0	0	0	0	1	0	0	0	11963	159	6	5	9005	5	PKD1	16	2161134	Missense_Mutation	SNP	A	TCGA-J4-A67K-01A-21D-A30E-08		2161134	88193619	29	12388											
DPEP2	64174	broad.mit.edu	37	chr16	68024898	68024898	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cggttcatttctgccaccacCttctgcagggacatgttggg	6	12	11	12	1	3	0	1	0	2	0	3	1	3	1	3	3	2	3	3	3	0	4			TCGA-J4-A67K-01A-21D-A30E-08	TCGA-J4-A67K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68e09db6-a35c-43fc-ac1f-c5b66bb3ae2b	838d6528-8be3-48aa-887b-614a711bddf4	g.chr16:68024898C>A	ENST00000572888.1	-	6	1385	c.735G>T	c.(733-735)aaG>aaT	p.K245N	DPEP2_ENST00000393847.1_Missense_Mutation_p.K245N|DPEP2_ENST00000412757.2_Missense_Mutation_p.K245N			Q9H4A9	DPEP2_HUMAN	dipeptidase 2	245					arachidonic acid metabolic process (GO:0019369)|leukotriene metabolic process (GO:0006691)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)	dipeptidase activity (GO:0016805)|dipeptidyl-peptidase activity (GO:0008239)|metal ion binding (GO:0046872)|metalloexopeptidase activity (GO:0008235)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(10)|skin(2)|upper_aerodigestive_tract(1)	17		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0119)|Epithelial(162;0.0489)|all cancers(182;0.239)		CTGCCACCACCTTCTGCAGGG	0.527																																						ENST00000412757.2																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(10)|skin(2)|upper_aerodigestive_tract(1)	17						c.(733-735)aaG>aaT		dipeptidase 2							99	97	98					16																	68024898		2198	4300	6498	SO:0001583	missense	64174				hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|proteolysis	anchored to membrane|plasma membrane	dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metalloexopeptidase activity	g.chr16:68024898C>A	AJ295149	CCDS10857.1	16q22.1	2011-07-22			ENSG00000167261	ENSG00000167261	3.4.13.19		23028	protein-coding gene	gene with protein product		609925					Standard	NM_022355		Approved		uc002eve.4	Q9H4A9	OTTHUMG00000137542	ENST00000572888.1:c.735G>T	16.37:g.68024898C>A	ENSP00000458977:p.Lys245Asn					DPEP2_ENST00000393847.1_Missense_Mutation_p.K245N|DPEP2_ENST00000572888.1_Missense_Mutation_p.K245N	p.K245N			Q9H4A9	DPEP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0119)|Epithelial(162;0.0489)|all cancers(182;0.239)	8	1400	-		Ovarian(137;0.192)	245					B2RCF8|Q6UX92|Q8TC95	Missense_Mutation	SNP	ENST00000572888.1	37	c.735G>T	CCDS10857.1	.	.	.	.	.	.	.	.	.	.	C	11.31	1.600600	0.28534	.	.	ENSG00000167261	ENST00000393847;ENST00000412757;ENST00000322384	T;T	0.22134	1.97;1.97	4.8	1.83	0.25207	.	0.258408	0.37715	N	0.001978	T	0.17365	0.0417	M	0.64080	1.96	0.80722	D	1	B;B	0.12630	0.004;0.006	B;B	0.17979	0.02;0.012	T	0.07177	-1.0786	10	0.32370	T	0.25	-17.1142	3.3602	0.07184	0.182:0.5333:0.0:0.2847	.	245;158	Q9H4A9;Q9H4A9-2	DPEP2_HUMAN;.	N	245;245;158	ENSP00000377430:K245N;ENSP00000412549:K245N	ENSP00000314702:K158N	K	-	3	2	DPEP2	66582399	0.336000	0.24757	1.000000	0.80357	0.853000	0.48598	-0.187000	0.09656	0.754000	0.32968	-0.143000	0.13931	AAG		0.527	DPEP2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437026.1	NM_022355		41	102	1	0	3.33635e-10	1	3.76227e-10	41	102					A	68024898	C	A	68024898	3	1	264	1	0	0	0	0	1	0	0	0	4714	680	24	5	745	5	DPEP2	16	68024898	Missense_Mutation	SNP	C	TCGA-J4-A67K-01A-21D-A30E-08	65863764	68024898	22329855	30	12389											
RSAD1	55316	broad.mit.edu	37	chr17	48559551	48559551	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcgcctctttcccgggcgcGtgtctgtagacttgatgctg	3	12	14	12	4	2	2	0	1	2	1	3	2	3	2	2	2	1	2	2	2	1	3			TCGA-J4-A67K-01A-21D-A30E-08	TCGA-J4-A67K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68e09db6-a35c-43fc-ac1f-c5b66bb3ae2b	838d6528-8be3-48aa-887b-614a711bddf4	g.chr17:48559551G>A	ENST00000258955.2	+	4	659	c.574G>A	c.(574-576)Gtg>Atg	p.V192M		NM_018346.1	NP_060816.1	Q9HA92	RSAD1_HUMAN	radical S-adenosyl methionine domain containing 1	192					porphyrin-containing compound biosynthetic process (GO:0006779)	mitochondrion (GO:0005739)	4 iron, 4 sulfur cluster binding (GO:0051539)|coproporphyrinogen oxidase activity (GO:0004109)|metal ion binding (GO:0046872)	p.V192M(1)		breast(1)|endometrium(4)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	16	Breast(11;1.93e-18)		BRCA - Breast invasive adenocarcinoma(22;1.55e-09)			TCCCGGGCGCGTGTCTGTAGA	0.667											OREG0024567	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000258955.2																			1	Substitution - Missense(1)	p.V192M(1)	endometrium(1)	breast(1)|endometrium(4)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	16						c.(574-576)Gtg>Atg		radical S-adenosyl methionine domain containing 1							34	39	38					17																	48559551		2203	4299	6502	SO:0001583	missense	55316				porphyrin biosynthetic process	mitochondrion	4 iron, 4 sulfur cluster binding|coproporphyrinogen oxidase activity|metal ion binding	g.chr17:48559551G>A	AK002026	CCDS11569.1	17q21.33	2004-11-08			ENSG00000136444	ENSG00000136444			25634	protein-coding gene	gene with protein product						12477932	Standard	NM_018346		Approved	FLJ11164	uc002iqw.1	Q9HA92	OTTHUMG00000162126	ENST00000258955.2:c.574G>A	17.37:g.48559551G>A	ENSP00000258955:p.Val192Met		OREG0024567	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	955		p.V192M	NM_018346.1	NP_060816.1	Q9HA92	RSAD1_HUMAN	BRCA - Breast invasive adenocarcinoma(22;1.55e-09)		4	659	+	Breast(11;1.93e-18)		192					B4DMW0|Q53HV8|Q86VC4|Q9BRY7|Q9NUS7	Missense_Mutation	SNP	ENST00000258955.2	37	c.574G>A	CCDS11569.1	.	.	.	.	.	.	.	.	.	.	G	18.47	3.629971	0.67015	.	.	ENSG00000136444	ENST00000258955	T	0.27104	1.69	5.48	4.42	0.53409	Elongator protein 3/MiaB/NifB (1);Radical SAM, alpha/beta horseshoe (1);Radical SAM (1);	0.293371	0.32836	N	0.005595	T	0.41050	0.1142	M	0.73430	2.235	0.37155	D	0.90234	D	0.76494	0.999	D	0.67231	0.95	T	0.47289	-0.9129	10	0.31617	T	0.26	-21.8216	3.8023	0.08763	0.3419:0.0:0.6581:0.0	.	192	Q9HA92	RSAD1_HUMAN	M	192	ENSP00000258955:V192M	ENSP00000258955:V192M	V	+	1	0	RSAD1	45914550	1.000000	0.71417	0.147000	0.22382	0.643000	0.38383	5.088000	0.64486	2.563000	0.86464	0.655000	0.94253	GTG		0.667	RSAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367413.1	NM_018346		39	76	0	0	0	1	0	39	76					A	48559551	G	A	48559551	3	1	264	1	0	0	0	0	1	0	0	0	13694	1145	40	1	588	1	RSAD1	17	48559551	Missense_Mutation	SNP	G	TCGA-J4-A67K-01A-21D-A30E-08		48559551	32635659	31	12390											
DSG4	147409	broad.mit.edu	37	chr18	28986327	28986327	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgatggttctgggcatcctgCtactgatttgtaagtactca	8	15	10	8	0	2	2	1	2	1	0	3	2	3	2	1	2	3	5	1	2	3	5			TCGA-J4-A67K-01A-21D-A30E-08	TCGA-J4-A67K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68e09db6-a35c-43fc-ac1f-c5b66bb3ae2b	838d6528-8be3-48aa-887b-614a711bddf4	g.chr18:28986327C>T	ENST00000308128.4	+	12	2059	c.1924C>T	c.(1924-1926)Cta>Tta	p.L642L	RP11-534N16.1_ENST00000581856.1_RNA|DSG4_ENST00000359747.4_Silent_p.L642L|RP11-534N16.1_ENST00000578477.1_RNA	NM_177986.3	NP_817123.1	Q86SJ6	DSG4_HUMAN	desmoglein 4	642					anagen (GO:0042640)|BMP signaling pathway (GO:0030509)|homophilic cell adhesion (GO:0007156)|keratinocyte differentiation (GO:0030216)|single organismal cell-cell adhesion (GO:0016337)	desmosome (GO:0030057)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			GGGCATCCTGCTACTGATTTG	0.458																																						ENST00000359747.4																			0				NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	70						c.(1924-1926)Cta>Tta		desmoglein 4							83	82	83					18																	28986327		2203	4300	6503	SO:0001819	synonymous_variant	147409				homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding	g.chr18:28986327C>T	AY177664, AY168788	CCDS11897.1, CCDS45845.1	18q12.1	2010-01-26			ENSG00000175065	ENSG00000175065		"Cadherins / Major cadherins"	21307	protein-coding gene	gene with protein product		607892				12648213	Standard	NM_001134453		Approved	CDHF13, LAH	uc002kwq.2	Q86SJ6	OTTHUMG00000131979	ENST00000308128.4:c.1924C>T	18.37:g.28986327C>T						DSG4_ENST00000308128.4_Silent_p.L642L|RP11-534N16.1_ENST00000581856.1_RNA|RP11-534N16.1_ENST00000578477.1_RNA	p.L642L	NM_001134453.1	NP_001127925.1	Q86SJ6	DSG4_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.00504)		12	1953	+			642					A2RUI1|Q6Y9L9|Q8IXV4	Silent	SNP	ENST00000308128.4	37	c.1924C>T	CCDS11897.1																																																																																				0.458	DSG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254941.1	NM_177986		23	89	0	0	0	1	0	23	89					T	28986327	C	T	28986327	2	4	264	1	0	0	0	0	0	0	0	1	4779	796	28	3		3	DSG4	18	28986327	Silent	SNP	C	TCGA-J4-A67K-01A-21D-A30E-08		28986327	49090921	32	12391											
IL27RA	9466	broad.mit.edu	37	chr19	14162942	14162942	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ccagccccttggggacttgcCcatcctggaagtggaggaga	8	7	14	12	0	0	1	0	0	0	1	1	5	1	4	5	5	2	0	5	5	1	2			TCGA-J4-A67K-01A-21D-A30E-08	TCGA-J4-A67K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68e09db6-a35c-43fc-ac1f-c5b66bb3ae2b	838d6528-8be3-48aa-887b-614a711bddf4	g.chr19:14162942C>T	ENST00000263379.2	+	14	1876	c.1751C>T	c.(1750-1752)cCc>cTc	p.P584L		NM_004843.3	NP_004834.1	Q6UWB1	I27RA_HUMAN	interleukin 27 receptor, alpha	584					cell surface receptor signaling pathway (GO:0007166)|defense response to Gram-positive bacterium (GO:0050830)|immune response (GO:0006955)|negative regulation of type 2 immune response (GO:0002829)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of T-helper 1 type immune response (GO:0002827)|regulation of isotype switching to IgG isotypes (GO:0048302)	integral component of plasma membrane (GO:0005887)	interleukin-27 receptor activity (GO:0045509)|transmembrane signaling receptor activity (GO:0004888)			breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	26						GGGGACTTGCCCATCCTGGAA	0.652																																					Colon(164;1849 1896 4443 37792 47834)	ENST00000263379.2																			0				breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	26						c.(1750-1752)cCc>cTc		interleukin 27 receptor, alpha							26	29	28					19																	14162942		2203	4300	6503	SO:0001583	missense	9466				cell surface receptor linked signaling pathway|immune response	integral to plasma membrane	transmembrane receptor activity	g.chr19:14162942C>T	AF053004	CCDS12303.1	19p13.11	2013-02-11				ENSG00000104998		"Interleukins and interleukin receptors", "Fibronectin type III domain containing"	17290	protein-coding gene	gene with protein product	"T-cell cytokine receptor type 1"	605350				9600072, 11057672	Standard	NM_004843		Approved	WSX-1, TCCR, CRL1, WSX1, zcytor1, IL-27R	uc002mxx.4	Q6UWB1		ENST00000263379.2:c.1751C>T	19.37:g.14162942C>T	ENSP00000263379:p.Pro584Leu						p.P584L	NM_004843.3	NP_004834.1	Q6UWB1	I27RA_HUMAN			14	1876	+			584					A0N0L1|O60624	Missense_Mutation	SNP	ENST00000263379.2	37	c.1751C>T	CCDS12303.1	.	.	.	.	.	.	.	.	.	.	C	5.685	0.310981	0.10733	.	.	ENSG00000104998	ENST00000263379	T	0.27557	1.66	5.33	4.08	0.47627	.	0.000000	0.53938	D	0.000056	T	0.31104	0.0786	M	0.70595	2.14	0.28519	N	0.913174	B	0.25235	0.121	B	0.17722	0.019	T	0.29150	-1.0021	10	0.62326	D	0.03	-23.1511	9.809	0.40810	0.0:0.8903:0.0:0.1097	.	584	Q6UWB1	I27RA_HUMAN	L	584	ENSP00000263379:P584L	ENSP00000263379:P584L	P	+	2	0	IL27RA	14023942	0.566000	0.26618	0.901000	0.35422	0.297000	0.27493	2.303000	0.43646	2.507000	0.84556	0.450000	0.29827	CCC		0.652	IL27RA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458539.1	NM_004843		7	21	0	0	0	1	0	7	21					T	14162942	C	T	14162942	3	4	264	1	0	0	0	0	1	0	0	0	7681	623	22	3	1805	3	IL27RA	19	14162942	Missense_Mutation	SNP	C	TCGA-J4-A67K-01A-21D-A30E-08		14162942	44966041	33	12392											
ZNF99	7652	broad.mit.edu	37	chr19	22951198	22951198	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aagtctagcttagagacagcGatacctgttttattaaaaat	15	13	7	6	1	1	1	0	0	1	1	1	3	1	1	1	0	3	2	1	0	8	6	rs147397251		TCGA-J4-A67K-01A-21D-A30E-08	TCGA-J4-A67K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68e09db6-a35c-43fc-ac1f-c5b66bb3ae2b	838d6528-8be3-48aa-887b-614a711bddf4	g.chr19:22951198G>A	ENST00000596209.1	-	3	225	c.135C>T	c.(133-135)atC>atT	p.I45I	ZNF99_ENST00000397104.3_Silent_p.I66I	NM_001080409.2	NP_001073878.2	A8MXY4	ZNF99_HUMAN	zinc finger protein 99	45	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.I66I(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				TAGAGACAGCGATACCTGttt	0.333																																						ENST00000397104.3																			1	Substitution - coding silent(1)	p.I66I(1)	skin(1)	NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124						c.(196-198)atC>atT		zinc finger protein 99							45	45	45					19																	22951198		2137	4275	6412	SO:0001819	synonymous_variant	7652							g.chr19:22951198G>A	BC021822	CCDS59369.1	19p12	2013-01-08	2006-01-17		ENSG00000213973	ENSG00000213973		"Zinc fingers, C2H2-type", "-"	13175	protein-coding gene	gene with protein product		603981	"zinc finger protein 99 (F8281)", "chromosome 19 open reading frame 9"	C19orf9			Standard	NM_001080409		Approved	MGC24986	uc021urt.1	A8MXY4		ENST00000596209.1:c.135C>T	19.37:g.22951198G>A						ZNF99_ENST00000596209.1_Silent_p.I45I	p.I66I							3	197	-		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)						M0R335	Silent	SNP	ENST00000596209.1	37	c.198C>T	CCDS59369.1																																																																																				0.333	ZNF99-001	NOVEL	not_best_in_genome_evidence|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000464591.1	XM_065124		16	33	0	0	0	1	0	16	33					A	22951198	G	A	22951198	2	1	264	1	0	0	0	0	0	0	0	1	18201	1048	37	2		2	ZNF99	19	22951198	Silent	SNP	G	TCGA-J4-A67K-01A-21D-A30E-08	8788256	22951198	36177785	34	12393											
FUT1	2523	broad.mit.edu	37	chr19	49253917	49253917	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaggtgcgcgggcggtcccCtgtgcggcccaggcggagct	5	5	18	13	5	0	0	0	0	0	0	1	1	1	1	3	6	3	1	3	6	1	0			TCGA-J4-A67K-01A-21D-A30E-08	TCGA-J4-A67K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68e09db6-a35c-43fc-ac1f-c5b66bb3ae2b	838d6528-8be3-48aa-887b-614a711bddf4	g.chr19:49253917C>T	ENST00000310160.3	-	4	1596	c.622G>A	c.(622-624)Ggg>Agg	p.G208R	FUT1_ENST00000601931.1_5'Flank	NM_000148.3	NP_000139.1	P19526	FUT1_HUMAN	fucosyltransferase 1 (galactoside 2-alpha-L-fucosyltransferase, H blood group)	208					carbohydrate metabolic process (GO:0005975)|L-fucose catabolic process (GO:0042355)|protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	fucosyltransferase activity (GO:0008417)|galactoside 2-alpha-L-fucosyltransferase activity (GO:0008107)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(3)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	17		all_lung(116;1.7e-06)|all_epithelial(76;3.52e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000135)|all cancers(93;0.000354)|Epithelial(262;0.0191)|GBM - Glioblastoma multiforme(486;0.0222)		GGGCGGTCCCCTGTGCGGCCC	0.667																																						ENST00000310160.3																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(3)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	17						c.(622-624)Ggg>Agg		fucosyltransferase 1 (galactoside 2-alpha-L-fucosyltransferase, H blood group)							77	79	79					19																	49253917		2202	4298	6500	SO:0001583	missense	2523				L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to plasma membrane|membrane fraction	galactoside 2-alpha-L-fucosyltransferase activity	g.chr19:49253917C>T		CCDS12733.1	19q13.33	2014-07-19	2006-01-19		ENSG00000174951	ENSG00000174951	2.4.1.69	"Blood group antigens", "Fucosyltransferases"	4012	protein-coding gene	gene with protein product		211100	"fucosyltransferase 1 (galactoside 2-alpha-L-fucosyltransferase, Bombay phenotype included)", "fucosyltransferase 1 (galactoside 2-alpha-L-fucosyltransferase)"	H, HSC			Standard	NM_000148		Approved		uc002pkk.3	P19526		ENST00000310160.3:c.622G>A	19.37:g.49253917C>T	ENSP00000312021:p.Gly208Arg						p.G208R	NM_000148.3	NP_000139.1	P19526	FUT1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000135)|all cancers(93;0.000354)|Epithelial(262;0.0191)|GBM - Glioblastoma multiforme(486;0.0222)	4	1596	-		all_lung(116;1.7e-06)|all_epithelial(76;3.52e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)	208					O14505|O14506|O14507	Missense_Mutation	SNP	ENST00000310160.3	37	c.622G>A	CCDS12733.1	.	.	.	.	.	.	.	.	.	.	C	12.44	1.940045	0.34283	.	.	ENSG00000174951	ENST00000310160;ENST00000539428	D	0.97620	-4.46	4.54	2.43	0.29744	.	0.392122	0.21603	N	0.071916	D	0.97542	0.9195	M	0.84326	2.69	0.09310	N	1	P	0.51653	0.947	P	0.58210	0.835	D	0.92789	0.6247	10	0.62326	D	0.03	-25.4518	8.9189	0.35599	0.0:0.811:0.0:0.189	.	208	P19526	FUT1_HUMAN	R	208;198	ENSP00000312021:G208R	ENSP00000312021:G208R	G	-	1	0	FUT1	53945729	0.000000	0.05858	0.010000	0.14722	0.020000	0.10135	0.417000	0.21214	1.299000	0.44798	-0.214000	0.12660	GGG		0.667	FUT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466194.1	NM_000148		11	257	0	0	0	1	0	11	257					T	49253917	C	T	49253917	3	4	264	1	0	0	0	0	1	0	0	0	6101	681	24	3	479	3	FUT1	19	49253917	Missense_Mutation	SNP	C	TCGA-J4-A67K-01A-21D-A30E-08	26302719	49253917	9875066	35	12394											
ZNF614	80110	broad.mit.edu	37	chr19	52520088	52520088	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gggtatacagattttgtctgTtgtattagttttcagatgct	8	19	10	4	0	2	2	1	0	1	2	2	2	2	2	0	1	2	5	0	1	4	9			TCGA-J4-A67K-01A-21D-A30E-08	TCGA-J4-A67K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68e09db6-a35c-43fc-ac1f-c5b66bb3ae2b	838d6528-8be3-48aa-887b-614a711bddf4	g.chr19:52520088T>C	ENST00000270649.6	-	5	1307	c.763A>G	c.(763-765)Aca>Gca	p.T255A	ZNF614_ENST00000356322.6_Intron	NM_025040.3	NP_079316.2	Q8N883	ZN614_HUMAN	zinc finger protein 614	255					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	24		all_neural(266;0.0505)		GBM - Glioblastoma multiforme(134;0.00513)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)		ATTTTGTCTGTTGTATTAGTT	0.353																																						ENST00000270649.6																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	24						c.(763-765)Aca>Gca		zinc finger protein 614							68	67	67					19																	52520088		2203	4300	6503	SO:0001583	missense	80110				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52520088T>C	BC022246	CCDS12847.1	19q13.41	2013-01-08				ENSG00000142556		"Zinc fingers, C2H2-type", "-"	24722	protein-coding gene	gene with protein product						12477932	Standard	NM_025040		Approved	FLJ21941	uc002pyj.3	Q8N883		ENST00000270649.6:c.763A>G	19.37:g.52520088T>C	ENSP00000270649:p.Thr255Ala					ZNF614_ENST00000356322.6_Intron	p.T255A	NM_025040.3	NP_079316.2	Q8N883	ZN614_HUMAN		GBM - Glioblastoma multiforme(134;0.00513)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)	5	1307	-		all_neural(266;0.0505)	255					Q494T8|Q8TCF4|Q9BSN8	Missense_Mutation	SNP	ENST00000270649.6	37	c.763A>G	CCDS12847.1	.	.	.	.	.	.	.	.	.	.	T	10.24	1.296930	0.23650	.	.	ENSG00000142556	ENST00000270649	T	0.06528	3.29	3.53	-6.05	0.02172	.	.	.	.	.	T	0.01730	0.0055	N	0.01168	-0.975	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.45101	-0.9284	9	0.66056	D	0.02	.	2.2743	0.04098	0.1126:0.3837:0.145:0.3587	.	255	Q8N883	ZN614_HUMAN	A	255	ENSP00000270649:T255A	ENSP00000270649:T255A	T	-	1	0	ZNF614	57211900	0.010000	0.17322	0.000000	0.03702	0.057000	0.15508	0.061000	0.14366	-0.954000	0.03640	0.533000	0.62120	ACA		0.353	ZNF614-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462407.1	NM_025040		15	53	0	0	0	1	0	15	53					C	52520088	T	C	52520088	3	2	264	1	0	0	0	0	1	0	0	0	18036	1725	60	4	998	4	ZNF614	19	52520088	Missense_Mutation	SNP	T	TCGA-J4-A67K-01A-21D-A30E-08	3266171	52520088	6608895	36	12395											
CDC25B	994	broad.mit.edu	37	chr20	3785591	3785591	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gccggcgggagctctgtagcCggctgcaggaccagtgaggg	6	5	19	11	3	1	1	0	1	1	0	1	3	1	3	3	5	3	4	3	5	1	1	rs369357260		TCGA-J4-A67K-01A-21D-A30E-08	TCGA-J4-A67K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68e09db6-a35c-43fc-ac1f-c5b66bb3ae2b	838d6528-8be3-48aa-887b-614a711bddf4	g.chr20:3785591C>T	ENST00000245960.5	+	16	2423	c.1726C>T	c.(1726-1728)Cgg>Tgg	p.R576W	CDC25B_ENST00000439880.2_Missense_Mutation_p.R562W|CDC25B_ENST00000467519.1_3'UTR|CDC25B_ENST00000344256.6_Missense_Mutation_p.R512W|CDC25B_ENST00000340833.4_Missense_Mutation_p.R535W|CDC25B_ENST00000379598.5_Missense_Mutation_p.R485W	NM_004358.3|NM_021872.2|NM_021873.2	NP_004349.1|NP_068658.1|NP_068659.1	P30305	MPIP2_HUMAN	cell division cycle 25B	576					female meiosis I (GO:0007144)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|oocyte maturation (GO:0001556)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokinesis (GO:0032467)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of protein kinase activity (GO:0045860)|protein phosphorylation (GO:0006468)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle pole (GO:0000922)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)			NS(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(1)	18						GCTCTGTAGCCGGCTGCAGGA	0.672																																						ENST00000245960.5																			0				NS(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(1)	18						c.(1726-1728)Cgg>Tgg		cell division cycle 25B		C	TRP/ARG,TRP/ARG,TRP/ARG	0,4406		0,0,2203	31	34	33		1684,1603,1726	2	1	20		33	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	CDC25B	NM_004358.3,NM_021872.2,NM_021873.2	101,101,101	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging	562/567,535/540,576/581	3785591	1,13005	2203	4300	6503	SO:0001583	missense	994				cell division|G2/M transition of mitotic cell cycle|mitosis|positive regulation of cell proliferation	cytosol|microtubule organizing center|nucleoplasm	protein binding|protein tyrosine phosphatase activity	g.chr20:3785591C>T		CCDS13065.1, CCDS13066.1, CCDS13067.1, CCDS74700.1, CCDS74701.1	20p13	2013-01-17	2013-01-17		ENSG00000101224	ENSG00000101224		"Protein tyrosine phosphatases / Class III Cys-based PTPs"	1726	protein-coding gene	gene with protein product		116949	"cell division cycle 25B", "cell division cycle 25 homolog B (S. cerevisiae)", "cell division cycle 25 homolog B (S. pombe)"			1836978	Standard	NM_021873		Approved		uc002wjn.3	P30305	OTTHUMG00000031764	ENST00000245960.5:c.1726C>T	20.37:g.3785591C>T	ENSP00000245960:p.Arg576Trp					CDC25B_ENST00000344256.6_Missense_Mutation_p.R512W|CDC25B_ENST00000439880.2_Missense_Mutation_p.R562W|CDC25B_ENST00000379598.5_Missense_Mutation_p.R485W|CDC25B_ENST00000467519.1_3'UTR|CDC25B_ENST00000340833.4_Missense_Mutation_p.R535W	p.R576W	NM_004358.3|NM_021872.2|NM_021873.2	NP_004349.1|NP_068658.1|NP_068659.1	P30305	MPIP2_HUMAN			16	2423	+			576					D3DVY1|D3DVY2|D3DVY3|D3DVY4|O43551|Q13971|Q5JX77|Q6RSS1|Q9BRA6	Missense_Mutation	SNP	ENST00000245960.5	37	c.1726C>T	CCDS13067.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.152895	0.78001	0.0	1.16E-4	ENSG00000101224	ENST00000344256;ENST00000379598;ENST00000245960;ENST00000439880;ENST00000340833	T;T;T;T;T	0.28666	1.69;1.9;1.6;1.6;1.82	5.35	2.05	0.26809	.	0.000000	0.85682	D	0.000000	T	0.52025	0.1709	M	0.80028	2.48	0.58432	D	0.999994	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;1.0;0.999	T	0.49606	-0.8922	10	0.87932	D	0	-25.5234	7.7864	0.29095	0.3525:0.5696:0.0:0.0779	.	485;498;512;464;535;562;576	B4DQZ3;B4DRC3;B4DIG0;B3KS38;P30305-3;P30305-2;P30305	.;.;.;.;.;.;MPIP2_HUMAN	W	512;485;576;562;535	ENSP00000339125:R512W;ENSP00000368918:R485W;ENSP00000245960:R576W;ENSP00000405972:R562W;ENSP00000339170:R535W	ENSP00000245960:R576W	R	+	1	2	CDC25B	3733591	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	2.581000	0.46077	0.199000	0.20427	-0.261000	0.10672	CGG		0.672	CDC25B-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077779.2	NM_021874		7	78	0	0	0	1	0	7	78					T	3785591	C	T	3785591	3	4	264	1	0	0	0	0	1	0	0	0	3063	643	23	2	1788	2	CDC25B	20	3785591	Missense_Mutation	SNP	C	TCGA-J4-A67K-01A-21D-A30E-08		3785591	59239929	37	12396											
SLC24A3	57419	broad.mit.edu	37	chr20	19565661	19565661	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tggggccacattcatggcagCgggaagttcggccccagagc	8	6	15	12	2	1	1	1	0	0	1	2	2	1	2	3	5	2	2	3	5	1	2			TCGA-J4-A67K-01A-21D-A30E-08	TCGA-J4-A67K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68e09db6-a35c-43fc-ac1f-c5b66bb3ae2b	838d6528-8be3-48aa-887b-614a711bddf4	g.chr20:19565661C>T	ENST00000328041.6	+	5	667	c.470C>T	c.(469-471)gCg>gTg	p.A157V		NM_020689.3	NP_065740.2	Q9HC58	NCKX3_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 3	157					ion transport (GO:0006811)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium, potassium:sodium antiporter activity (GO:0008273)|symporter activity (GO:0015293)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						TTCATGGCAGCGGGAAGTTCG	0.547																																						ENST00000328041.6																			0				breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						c.(469-471)gCg>gTg		solute carrier family 24 (sodium/potassium/calcium exchanger), member 3							95	83	87					20																	19565661		2203	4300	6503	SO:0001583	missense	57419					integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity	g.chr20:19565661C>T	AF169257	CCDS13140.1	20p13	2013-05-22			ENSG00000185052	ENSG00000185052		"Solute carriers"	10977	protein-coding gene	gene with protein product		609839					Standard	NM_020689		Approved		uc002wrl.3	Q9HC58	OTTHUMG00000031993	ENST00000328041.6:c.470C>T	20.37:g.19565661C>T	ENSP00000333519:p.Ala157Val						p.A157V	NM_020689.3	NP_065740.2	Q9HC58	NCKX3_HUMAN			5	667	+			157					B1AKV7|Q9BQJ9|Q9BQL7|Q9BQY3|Q9H519	Missense_Mutation	SNP	ENST00000328041.6	37	c.470C>T	CCDS13140.1	.	.	.	.	.	.	.	.	.	.	C	32	5.190615	0.94923	.	.	ENSG00000185052	ENST00000328041	T	0.63096	-0.02	5.19	5.19	0.71726	Sodium/calcium exchanger membrane region (1);	0.000000	0.85682	D	0.000000	T	0.70666	0.3250	L	0.52266	1.64	0.80722	D	1	D	0.63880	0.993	P	0.59012	0.85	T	0.69639	-0.5091	9	.	.	.	.	16.2033	0.82103	0.0:1.0:0.0:0.0	.	157	Q9HC58	NCKX3_HUMAN	V	157	ENSP00000333519:A157V	.	A	+	2	0	SLC24A3	19513661	1.000000	0.71417	0.980000	0.43619	0.929000	0.56500	7.381000	0.79718	2.435000	0.82474	0.313000	0.20887	GCG		0.547	SLC24A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078207.4	NM_020689		5	98	0	0	0	1	0	5	98					T	19565661	C	T	19565661	3	4	264	1	0	0	0	0	1	0	0	0	14467	768	27	1	488	1	SLC24A3	20	19565661	Missense_Mutation	SNP	C	TCGA-J4-A67K-01A-21D-A30E-08	15780070	19565661	43459859	38	12397											
ASXL1	171023	broad.mit.edu	37	chr20	31023729	31023729	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gggtgtctcgagtatgtgcgGtccgccaaaagatcccagat	9	9	13	10	3	1	2	0	0	1	2	4	3	3	2	3	2	1	1	3	2	3	1			TCGA-J4-A67K-01A-21D-A30E-08	TCGA-J4-A67K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68e09db6-a35c-43fc-ac1f-c5b66bb3ae2b	838d6528-8be3-48aa-887b-614a711bddf4	g.chr20:31023729G>A	ENST00000375687.4	+	13	3638	c.3214G>A	c.(3214-3216)Gtc>Atc	p.V1072I	ASXL1_ENST00000306058.5_Missense_Mutation_p.V1067I	NM_015338.5	NP_056153	Q8IXJ9	ASXL1_HUMAN	additional sex combs like transcriptional regulator 1	1072					bone development (GO:0060348)|monoubiquitinated histone H2A deubiquitination (GO:0035522)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035359)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of retinoic acid receptor signaling pathway (GO:0048386)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to retinoic acid (GO:0032526)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nuclear chromatin (GO:0000790)|PR-DUB complex (GO:0035517)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|peroxisome proliferator activated receptor binding (GO:0042975)|retinoic acid receptor binding (GO:0042974)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(655)|kidney(5)|large_intestine(18)|liver(1)|lung(27)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	722						AGTATGTGCGGTCCGCCAAAA	0.567			"F, N, Mis"		"MDS, CMML"																																	ENST00000375687.4				Rec	yes		20	20q11.1	171023	"F, N, Mis"	additional sex combs like 1			L			"MDS, CMML"		0				NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(655)|kidney(5)|large_intestine(18)|liver(1)|lung(27)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	722						c.(3214-3216)Gtc>Atc		additional sex combs like 1 (Drosophila)							137	113	121					20																	31023729		2203	4300	6503	SO:0001583	missense	171023				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	PR-DUB complex	metal ion binding|protein binding	g.chr20:31023729G>A	AJ438952	CCDS13201.1	20q11	2014-09-17	2014-06-17		ENSG00000171456	ENSG00000171456			18318	protein-coding gene	gene with protein product		612990	"additional sex combs like 1 (Drosophila)"			12657473	Standard	NM_015338		Approved	KIAA0978	uc002wxs.3	Q8IXJ9	OTTHUMG00000032218	ENST00000375687.4:c.3214G>A	20.37:g.31023729G>A	ENSP00000364839:p.Val1072Ile					ASXL1_ENST00000306058.5_Missense_Mutation_p.V1067I	p.V1072I	NM_015338.5	NP_056153.2	Q8IXJ9	ASXL1_HUMAN			13	3638	+			1072					B2RP59|Q5JWS9|Q8IYY7|Q9H466|Q9NQF8|Q9UFJ0|Q9UFP8|Q9Y2I4	Missense_Mutation	SNP	ENST00000375687.4	37	c.3214G>A	CCDS13201.1	.	.	.	.	.	.	.	.	.	.	G	13.34	2.208425	0.39003	.	.	ENSG00000171456	ENST00000358956;ENST00000375687;ENST00000421155;ENST00000412498;ENST00000306058	T;T	0.25085	1.82;1.82	4.17	1.16	0.20824	.	1.231330	0.05415	N	0.543126	T	0.17195	0.0413	L	0.34521	1.04	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.04013	0.001;0.001	T	0.29427	-1.0012	10	0.33141	T	0.24	-0.2541	1.0232	0.01522	0.2759:0.1537:0.4127:0.1577	.	1067;1072	A6NIZ6;Q8IXJ9	.;ASXL1_HUMAN	I	1072;1072;1072;993;1067	ENSP00000364839:V1072I;ENSP00000305119:V1067I	ENSP00000305119:V1067I	V	+	1	0	ASXL1	30487390	0.000000	0.05858	0.002000	0.10522	0.984000	0.73092	0.086000	0.14935	0.306000	0.22856	0.561000	0.74099	GTC		0.567	ASXL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078624.2	NM_015338		4	179	0	0	0	1	0	4	179					A	31023729	G	A	31023729	3	1	264	1	0	0	0	0	1	0	0	0	1066	1261	44	3	3270	3	ASXL1	20	31023729	Missense_Mutation	SNP	G	TCGA-J4-A67K-01A-21D-A30E-08	11458068	31023729	32001791	39	12398											
SLC19A1	6573	broad.mit.edu	37	chr21	46950724	46950727	+	Frame_Shift_Del	DEL	GCAC	GCAC	-																															ctggtaggagccgcggaacaGcacgaaggccgcatagcaca																										TCGA-J4-A67K-01A-21D-A30E-08	TCGA-J4-A67K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68e09db6-a35c-43fc-ac1f-c5b66bb3ae2b	838d6528-8be3-48aa-887b-614a711bddf4	g.chr21:46950724_46950727delGCAC	ENST00000311124.4	-	4	1260_1263	c.1108_1111delGTGC	c.(1108-1113)gtgctgfs	p.VL370fs	SLC19A1_ENST00000380010.4_Frame_Shift_Del_p.VL370fs|SLC19A1_ENST00000567670.1_Frame_Shift_Del_p.VL370fs|SLC19A1_ENST00000485649.2_Frame_Shift_Del_p.VL330fs	NM_194255.2	NP_919231.1	P41440	S19A1_HUMAN	solute carrier family 19 (folate transporter), member 1	370					folic acid metabolic process (GO:0046655)|folic acid transport (GO:0015884)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	folic acid binding (GO:0005542)|folic acid transporter activity (GO:0008517)|methotrexate transporter activity (GO:0015350)			endometrium(4)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	10				Colorectal(79;0.0569)|READ - Rectum adenocarcinoma(84;0.172)	Methotrexate(DB00563)|Pralatrexate(DB06813)	CCGCGGAACAGCACGAAGGCCGCA	0.696																																						ENST00000311124.4																			0				endometrium(4)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	10						c.(1108-1113)tgfs		solute carrier family 19 (folate transporter), member 1																																				SO:0001589	frameshift_variant	6573				folic acid metabolic process	integral to plasma membrane|membrane fraction	folic acid binding|folic acid transporter activity|methotrexate transporter activity|reduced folate carrier activity	g.chr21:46950724_46950727delGCAC	U15939	CCDS13725.1, CCDS56217.1, CCDS56218.1	21q22.3	2013-05-22			ENSG00000173638	ENSG00000173638		"Solute carriers"	10937	protein-coding gene	gene with protein product		600424				9570943	Standard	NM_194255		Approved	FOLT	uc002zhl.2	P41440	OTTHUMG00000090397	ENST00000311124.4:c.1108_1111delGTGC	21.37:g.46950724_46950727delGCAC	ENSP00000308895:p.Val370fs					SLC19A1_ENST00000380010.4_Frame_Shift_Del_p.VL370fs|SLC19A1_ENST00000485649.2_Frame_Shift_Del_p.VL330fs|SLC19A1_ENST00000567670.1_Frame_Shift_Del_p.VL370fs	p.VL370fs	NM_194255.2	NP_919231.1	P41440	S19A1_HUMAN		Colorectal(79;0.0569)|READ - Rectum adenocarcinoma(84;0.172)	4	1260_1263	-			370					B2R7U8|B7Z8C3|E9PFY4|O00553|O60227|Q13026|Q9BTX8	Frame_Shift_Del	DEL	ENST00000311124.4	37	c.1108_1111delGTGC	CCDS13725.1																																																																																				0.696	SLC19A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206796.1			3	4						3	4	---	---	---	---	-	46950727	GCAC	-	46950724	7	5	264	1	0	1	0	1	0	0	0	0	14428	962	34	0	676	0	SLC19A1	21	46950724	Frame_Shift_Del	DEL	GCAC	TCGA-J4-A67K-01A-21D-A30E-08		46950724	1179171	40	12399											
PKDREJ	10343	broad.mit.edu	37	chr22	46653656	46653656	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	cttgaggcttataagtaaatCcattggtactctcatctata	12	15	6	8	0	2	1	1	1	2	0	4	1	3	1	1	2	1	3	1	2	7	8			TCGA-J4-A67K-01A-21D-A30E-08	TCGA-J4-A67K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68e09db6-a35c-43fc-ac1f-c5b66bb3ae2b	838d6528-8be3-48aa-887b-614a711bddf4	g.chr22:46653656C>G	ENST00000253255.5	-	1	5563	c.5564G>C	c.(5563-5565)gGa>gCa	p.G1855A		NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN	polycystin (PKD) family receptor for egg jelly	1855					acrosome reaction (GO:0007340)|calcium ion transmembrane transport (GO:0070588)|detection of mechanical stimulus (GO:0050982)|neuropeptide signaling pathway (GO:0007218)|regulation of acrosome reaction (GO:0060046)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)			NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		ATAAGTAAATCCATTGGTACT	0.388																																						ENST00000253255.5																			0				NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73						c.(5563-5565)gGa>gCa		polycystin (PKD) family receptor for egg jelly							131	134	133					22																	46653656		2203	4300	6503	SO:0001583	missense	10343				acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity	g.chr22:46653656C>G	AF116458	CCDS14073.1	22q13.31	2013-07-31	2013-07-31		ENSG00000130943	ENSG00000130943			9015	protein-coding gene	gene with protein product		604670	"polycystic kidney disease (polycystin) and REJ (sperm receptor for egg jelly, sea urchin homolog)-like", "polycystic kidney disease (polycystin) and REJ (sperm receptor for egg jelly homolog, sea urchin)-like", "polycystic kidney disease (polycystin) and REJ homolog (sperm receptor for egg jelly homolog, sea urchin)"			9949214, 10591208	Standard	NM_006071		Approved		uc003bhh.3	Q9NTG1	OTTHUMG00000150493	ENST00000253255.5:c.5564G>C	22.37:g.46653656C>G	ENSP00000253255:p.Gly1855Ala						p.G1855A	NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)	1	5563	-		Ovarian(80;0.00965)|all_neural(38;0.0416)	1855					B1AJY3|O95850	Missense_Mutation	SNP	ENST00000253255.5	37	c.5564G>C	CCDS14073.1	.	.	.	.	.	.	.	.	.	.	C	15.84	2.951947	0.53293	.	.	ENSG00000130943	ENST00000253255	T	0.68331	-0.32	5.04	5.04	0.67666	Polycystin cation channel, PKD1/PKD2 (1);	0.357875	0.23291	N	0.049787	T	0.75693	0.3884	M	0.70595	2.14	0.28424	N	0.917583	D	0.67145	0.996	D	0.66351	0.943	T	0.68450	-0.5405	10	0.02654	T	1	-33.3215	15.4791	0.75511	0.0:1.0:0.0:0.0	.	1855	Q9NTG1	PKDRE_HUMAN	A	1855	ENSP00000253255:G1855A	ENSP00000253255:G1855A	G	-	2	0	PKDREJ	45032320	0.976000	0.34144	0.498000	0.27564	0.052000	0.14988	3.352000	0.52239	2.515000	0.84797	0.455000	0.32223	GGA		0.388	PKDREJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318466.1	NM_006071		31	121	0	0	0	1	0	31	121					G	46653656	C	G	46653656	3	3	264	1	0	0	0	0	1	0	0	0	11970	855	30	5	1201	5	PKDREJ	22	46653656	Missense_Mutation	SNP	C	TCGA-J4-A67K-01A-21D-A30E-08		46653656	4650910	41	12400											
HMGB3	3149	broad.mit.edu	37	chrX	150156360	150156360	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaagaggaggaggaagaagaGgaggaggaggaggaggagga	17	0	24	0	0	0	3	0	0	0	3	0	14	0	13	0	10	0	0	0	10	3	0			TCGA-J4-A67K-01A-21D-A30E-08	TCGA-J4-A67K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68e09db6-a35c-43fc-ac1f-c5b66bb3ae2b	838d6528-8be3-48aa-887b-614a711bddf4	g.chrX:150156360G>A	ENST00000325307.7	+	5	672	c.576G>A	c.(574-576)gaG>gaA	p.E192E	HMGB3_ENST00000448905.2_Silent_p.E192E	NM_005342.2	NP_005333.2	O15347	HMGB3_HUMAN	high mobility group box 3	192	Asp/Glu-rich (acidic).				DNA recombination (GO:0006310)|multicellular organismal development (GO:0007275)	chromosome (GO:0005694)|nucleus (GO:0005634)	DNA binding, bending (GO:0008301)|double-stranded DNA binding (GO:0003690)|poly(A) RNA binding (GO:0044822)	p.E192E(1)		endometrium(3)|large_intestine(2)|lung(2)|skin(1)	8	Acute lymphoblastic leukemia(192;6.56e-05)					aggaagaagaggaggaggagg	0.443																																						ENST00000325307.7																			1	Substitution - coding silent(1)	p.E192E(1)	large_intestine(1)	endometrium(3)|large_intestine(2)|lung(2)|skin(1)	8						c.(574-576)gaG>gaA		high mobility group box 3							50	48	49					X																	150156360		2202	4299	6501	SO:0001819	synonymous_variant	3149				DNA recombination|multicellular organismal development	chromosome|nucleus	DNA bending activity|double-stranded DNA binding	g.chrX:150156360G>A	AF274572	CCDS35428.1	Xq28	2011-07-01	2011-04-05	2002-08-16	ENSG00000029993	ENSG00000029993		"High-mobility group / Canonical"	5004	protein-coding gene	gene with protein product	"non-histone chromosomal protein"	300193	"high-mobility group (nonhistone chromosomal) protein 4", "high-mobility group box 3"	HMG4		9598312	Standard	XM_005274665		Approved	HMG2A, MGC90319	uc004fep.3	O15347	OTTHUMG00000024162	ENST00000325307.7:c.576G>A	X.37:g.150156360G>A						HMGB3_ENST00000448905.2_Silent_p.E192E	p.E192E	NM_005342.2	NP_005333.2	O15347	HMGB3_HUMAN			5	672	+	Acute lymphoblastic leukemia(192;6.56e-05)		192			Asp/Glu-rich (acidic).		O95556|Q6NS40	Silent	SNP	ENST00000325307.7	37	c.576G>A	CCDS35428.1																																																																																				0.443	HMGB3-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060867.1	NM_005342		4	37	0	0	0	1	0	4	37					A	150156360	G	A	150156360	2	1	264	1	0	0	0	0	0	0	0	1	7227	991	35	3		3	HMGB3	23	150156360	Silent	SNP	G	TCGA-J4-A67K-01A-21D-A30E-08		150156360	5114200	42	12401											
CCDC18	343099	broad.mit.edu	37	chr1	93646352	93646352	+	Intron	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcttccacgcgcaggggccCgggaaagggtcagaggcttc	7	5	17	12	3	1	1	1	0	0	1	3	2	2	2	2	6	0	3	2	6	1	2			TCGA-J4-A67L-01A-11D-A30E-08	TCGA-J4-A67L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7657dad4-c2db-417a-a77c-4de308ef3f61	046e13f7-4c6e-4ee1-97c8-8adf4fa21c42	g.chr1:93646352C>G	ENST00000343253.7	+	1	500				TMED5_ENST00000370282.3_5'Flank|TMED5_ENST00000479918.1_5'Flank|CCDC18_ENST00000334652.5_5'UTR|CCDC18_ENST00000401026.3_5'UTR|CCDC18_ENST00000338949.4_5'UTR|CCDC18_ENST00000557479.1_Missense_Mutation_p.R89G|TMED5_ENST00000370280.1_5'Flank			Q5T9S5	CCD18_HUMAN	coiled-coil domain containing 18											breast(5)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	42		all_lung(203;0.00196)|Lung NSC(277;0.00903)|Melanoma(281;0.099)|all_neural(321;0.185)|Glioma(108;0.203)		all cancers(265;0.00166)|GBM - Glioblastoma multiforme(16;0.00551)|Epithelial(280;0.0967)		CGCAGGGGCCCGGGAAAGGGT	0.672																																						ENST00000557479.1																			0				breast(5)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	42						c.(265-267)Cgg>Ggg		coiled-coil domain containing 18							24	32	30					1																	93646352		1962	4149	6111	SO:0001627	intron_variant	343099							g.chr1:93646352C>G			1p22.1	2008-02-05			ENSG00000122483	ENSG00000122483			30370	protein-coding gene	gene with protein product						12601173	Standard	XM_006710609		Approved	NY-SAR-41	uc021opx.1	Q5T9S5	OTTHUMG00000010598	ENST00000343253.7:c.-3+377C>G	1.37:g.93646352C>G						CCDC18_ENST00000334652.5_5'UTR|CCDC18_ENST00000401026.3_5'UTR|CCDC18_ENST00000338949.4_5'UTR|CCDC18_ENST00000343253.7_Intron	p.R89G	NM_206886.3	NP_996769.3	Q5T9S5	CCD18_HUMAN		all cancers(265;0.00166)|GBM - Glioblastoma multiforme(16;0.00551)|Epithelial(280;0.0967)	1	433	+		all_lung(203;0.00196)|Lung NSC(277;0.00903)|Melanoma(281;0.099)|all_neural(321;0.185)|Glioma(108;0.203)	0					Q6ZU17	Missense_Mutation	SNP	ENST00000343253.7	37	c.265C>G		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.00|14.00	2.406204|2.406204	0.42715|0.42715	.|.	.|.	ENSG00000122483|ENSG00000122483	ENST00000448243|ENST00000557479	.|.	.|.	.|.	4.92|4.92	-7.24|-7.24	0.01475|0.01475	.|.	.|.	.|.	.|.	.|.	T|T	0.08447|0.08447	0.0210|0.0210	.|.	.|.	.|.	0.21355|0.21355	N|N	0.999718|0.999718	.|B	.|0.02656	.|0.0	.|B	.|0.01281	.|0.0	T|T	0.28586|0.28586	-1.0039|-1.0039	4|7	.|0.27785	.|T	.|0.31	.|.	9.0994|9.0994	0.36658|0.36658	0.0:0.1424:0.5171:0.3404|0.0:0.1424:0.5171:0.3404	.|.	.|89	.|G3V388	.|.	R|G	27|89	.|.	.|ENSP00000383808:R89G	P|R	+|+	2|1	0|2	CCDC18|CCDC18	93418940|93418940	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.000000|0.000000	0.00434|0.00434	-0.807000|-0.807000	0.04520|0.04520	-1.422000|-1.422000	0.02004|0.02004	-2.141000|-2.141000	0.00338|0.00338	CCG|CGG		0.672	CCDC18-008	PUTATIVE	basic|appris_principal|exp_conf	protein_coding	protein_coding	OTTHUMT00000382327.1	NM_206886		15	57	0	0	0	1	0	15	57					G	93646352	C	G	93646352	1	3	265	0	1	0	0	0	0	0	0	0	2794	643	23	5		5	CCDC18	1	93646352	Intron	SNP	C	TCGA-J4-A67L-01A-11D-A30E-08		93646352	155604269	1	12402											
CD1E	913	broad.mit.edu	37	chr1	158325304	158325304	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	agccttcttggtcacacctgCcctcgatttctagcggggct	5	12	10	14	2	3	0	1	0	2	0	4	1	3	0	3	3	3	1	3	3	1	4			TCGA-J4-A67L-01A-11D-A30E-08	TCGA-J4-A67L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7657dad4-c2db-417a-a77c-4de308ef3f61	046e13f7-4c6e-4ee1-97c8-8adf4fa21c42	g.chr1:158325304C>T	ENST00000368167.3	+	3	809	c.570C>T	c.(568-570)tgC>tgT	p.C190C	CD1E_ENST00000368164.3_Intron|CD1E_ENST00000368160.3_Silent_p.C190C|CD1E_ENST00000434258.1_Silent_p.C188C|CD1E_ENST00000368154.1_Intron|CD1E_ENST00000368165.3_Intron|CD1E_ENST00000452291.2_Intron|CD1E_ENST00000444681.2_Silent_p.C91C|CD1E_ENST00000368156.1_Intron|CD1E_ENST00000368155.3_Intron|CD1E_ENST00000368166.3_Intron|CD1E_ENST00000368161.3_Silent_p.C190C|CD1E_ENST00000368163.3_Silent_p.C190C|CD1E_ENST00000368157.1_Intron	NM_030893.3	NP_112155.2	P15812	CD1E_HUMAN	CD1e molecule	190					antigen processing and presentation (GO:0019882)|immune response (GO:0006955)	endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)	lipid binding (GO:0008289)			breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(27)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|urinary_tract(1)	49	all_hematologic(112;0.0378)					GTCACACCTGCCCTCGATTTC	0.507																																						ENST00000444681.2																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(27)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|urinary_tract(1)	49						c.(271-273)tgC>tgT		CD1e molecule							52	53	53					1																	158325304		1911	4130	6041	SO:0001819	synonymous_variant	913				antigen processing and presentation|immune response	early endosome|Golgi membrane|integral to plasma membrane|late endosome|lysosomal lumen		g.chr1:158325304C>T	AJ289111	CCDS41417.1, CCDS41418.1, CCDS41419.1, CCDS41420.1, CCDS41421.1, CCDS41422.1, CCDS53387.1, CCDS53388.1, CCDS53389.1, CCDS53390.1, CCDS53384.1, CCDS53385.1, CCDS53386.1	1q23.1	2014-01-14	2006-03-28		ENSG00000158488	ENSG00000158488		"CD molecules", "Immunoglobulin superfamily / C1-set domain containing"	1638	protein-coding gene	gene with protein product		188411	"CD1E antigen, e polypeptide", "CD1e antigen"			10948205	Standard	NM_001042585		Approved		uc001fse.3	P15812	OTTHUMG00000017515	ENST00000368167.3:c.570C>T	1.37:g.158325304C>T						CD1E_ENST00000368164.3_Intron|CD1E_ENST00000368156.1_Intron|CD1E_ENST00000368157.1_Intron|CD1E_ENST00000368163.3_Silent_p.C190C|CD1E_ENST00000368167.3_Silent_p.C190C|CD1E_ENST00000368166.3_Intron|CD1E_ENST00000368161.3_Silent_p.C190C|CD1E_ENST00000368160.3_Silent_p.C190C|CD1E_ENST00000368155.3_Intron|CD1E_ENST00000368165.3_Intron|CD1E_ENST00000368154.1_Intron|CD1E_ENST00000452291.2_Intron|CD1E_ENST00000434258.1_Silent_p.C188C	p.C91C	NM_001185114.1	NP_001172043.1	P15812	CD1E_HUMAN			2	566	+	all_hematologic(112;0.0378)		190					B4DZV3|E7EP01|Q5TDJ9|Q5TDK3|Q5TDK4|Q5TDK5|Q5TDK6|Q5TDK8|Q5TDL1|Q712E4|Q712E5|Q712E6|Q712E7|Q712E8|Q712E9|Q712F0|Q712F1|Q712F2|Q712F3|Q712F4|Q712F5|Q96TD0|Q96TD1|Q9UMM1|Q9Y5M3	Silent	SNP	ENST00000368167.3	37	c.273C>T	CCDS41417.1																																																																																				0.507	CD1E-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000046353.3	NM_030893		16	41	0	0	0	1	0	16	41					T	158325304	C	T	158325304	2	4	265	1	0	0	0	0	0	0	0	1	2978	747	26	3		3	CD1E	1	158325304	Silent	SNP	C	TCGA-J4-A67L-01A-11D-A30E-08	64678952	158325304	90925317	2	12403											
ADCY10	55811	broad.mit.edu	37	chr1	167823646	167823646	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcagactccgtttgttggaaAacgagtacctcatgatgttc	10	13	9	9	2	2	2	2	1	0	1	4	4	3	3	2	1	2	4	2	1	3	4			TCGA-J4-A67L-01A-11D-A30E-08	TCGA-J4-A67L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7657dad4-c2db-417a-a77c-4de308ef3f61	046e13f7-4c6e-4ee1-97c8-8adf4fa21c42	g.chr1:167823646A>C	ENST00000367851.4	-	18	2437	c.2253T>G	c.(2251-2253)gtT>gtG	p.V751V	ADCY10_ENST00000367848.1_Silent_p.V659V|ADCY10_ENST00000545172.1_Silent_p.V598V	NM_018417.4	NP_060887.2	Q96PN6	ADCYA_HUMAN	adenylate cyclase 10 (soluble)	751					cAMP biosynthetic process (GO:0006171)|intracellular signal transduction (GO:0035556)|positive regulation of apoptotic process (GO:0043065)|spermatogenesis (GO:0007283)	apical part of cell (GO:0045177)|axon (GO:0030424)|basal part of cell (GO:0045178)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite (GO:0030425)|growth cone (GO:0030426)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						TTTGTTGGAAAACGAGTACCT	0.443																																						ENST00000367848.1																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						c.(1975-1977)gtT>gtG		adenylate cyclase 10 (soluble)							165	154	158					1																	167823646		2203	4300	6503	SO:0001819	synonymous_variant	55811				intracellular signal transduction|spermatogenesis	cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction	adenylate cyclase activity|ATP binding|magnesium ion binding	g.chr1:167823646A>C	AF271058	CCDS1265.1, CCDS53426.1, CCDS72977.1	1q24	2013-02-04			ENSG00000143199	ENSG00000143199	4.6.1.1	"Adenylate cyclases"	21285	protein-coding gene	gene with protein product	"soluble adenylyl cyclase", "Hypercalciuria, absorptive, 2"	605205					Standard	XM_006711449		Approved	SAC, Sacy, SACI, HCA2, RP1-313L4.2	uc001ger.3	Q96PN6	OTTHUMG00000034573	ENST00000367851.4:c.2253T>G	1.37:g.167823646A>C						ADCY10_ENST00000545172.1_Silent_p.V598V|ADCY10_ENST00000367851.4_Silent_p.V751V	p.V659V			Q96PN6	ADCYA_HUMAN			18	2474	-			751					B4DZF0|F5GWS5|O95558|Q5R329|Q5R330|Q8WXV4|Q9NNX0	Silent	SNP	ENST00000367851.4	37	c.1977T>G	CCDS1265.1																																																																																				0.443	ADCY10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083663.1	NM_018417		22	96	0	0	0	1	0	22	96					C	167823646	A	C	167823646	2	2	265	1	0	0	0	0	0	0	0	1	293	1	1	5		5	ADCY10	1	167823646	Silent	SNP	A	TCGA-J4-A67L-01A-11D-A30E-08	9498342	167823646	81426975	3	12404											
PLXNB1	5364	broad.mit.edu	37	chr3	48465260	48465260	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aggagtagtagtgctggtccCggagacacactcgagataca	12	7	13	9	2	0	2	0	0	0	2	2	5	1	3	1	3	2	3	1	3	3	3			TCGA-J4-A67L-01A-11D-A30E-08	TCGA-J4-A67L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7657dad4-c2db-417a-a77c-4de308ef3f61	046e13f7-4c6e-4ee1-97c8-8adf4fa21c42	g.chr3:48465260C>T	ENST00000358536.4	-	3	1030	c.761G>A	c.(760-762)cGg>cAg	p.R254Q	PLXNB1_ENST00000448774.2_Intron|PLXNB1_ENST00000358459.4_Missense_Mutation_p.R254Q|PLXNB1_ENST00000456774.1_Missense_Mutation_p.R254Q|PLXNB1_ENST00000296440.6_Missense_Mutation_p.R254Q	NM_002673.4	NP_002664.2	O43157	PLXB1_HUMAN	plexin B1	254	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|cell migration (GO:0016477)|intracellular signal transduction (GO:0035556)|negative regulation of cell adhesion (GO:0007162)|negative regulation of osteoblast proliferation (GO:0033689)|neuron projection morphogenesis (GO:0048812)|ossification involved in bone maturation (GO:0043931)|positive regulation of axonogenesis (GO:0050772)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell shape (GO:0008360)|regulation of cytoskeleton organization (GO:0051493)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in bone trabecula morphogenesis (GO:1900220)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	GTPase activating protein binding (GO:0032794)|receptor activity (GO:0004872)|semaphorin receptor activity (GO:0017154)|semaphorin receptor binding (GO:0030215)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		GTGCTGGTCCCGGAGACACAC	0.622																																						ENST00000358536.4																			0				NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47						c.(760-762)cGg>cAg		plexin B1							61	59	60					3																	48465260		2203	4300	6503	SO:0001583	missense	5364				axon guidance|cell migration|intracellular signal transduction|regulation of cell shape|regulation of cytoskeleton organization|regulation of small GTPase mediated signal transduction|semaphorin-plexin signaling pathway	extracellular region|integral to plasma membrane|intracellular|semaphorin receptor complex	GTPase activator activity|semaphorin receptor activity|semaphorin receptor binding	g.chr3:48465260C>T	X87904	CCDS2765.1	3p21.31	2008-07-18			ENSG00000164050	ENSG00000164050		"Plexins"	9103	protein-coding gene	gene with protein product		601053		PLXN5		8570614, 11035813	Standard	XM_005265234		Approved	SEP, KIAA0407	uc003csw.2	O43157	OTTHUMG00000133527	ENST00000358536.4:c.761G>A	3.37:g.48465260C>T	ENSP00000351338:p.Arg254Gln					PLXNB1_ENST00000456774.1_Missense_Mutation_p.R254Q|PLXNB1_ENST00000448774.2_Intron|PLXNB1_ENST00000296440.6_Missense_Mutation_p.R254Q|PLXNB1_ENST00000358459.4_Missense_Mutation_p.R254Q	p.R254Q	NM_002673.4	NP_002664.2	O43157	PLXB1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)	3	1030	-			254			Sema.		A6H8Y2|Q6NY20|Q9UIV7|Q9UJ92|Q9UJ93	Missense_Mutation	SNP	ENST00000358536.4	37	c.761G>A	CCDS2765.1	.	.	.	.	.	.	.	.	.	.	C	3.153	-0.173789	0.06421	.	.	ENSG00000164050	ENST00000296440;ENST00000358459;ENST00000358536;ENST00000456774	T;T;T;T	0.10382	2.88;2.88;2.88;2.88	4.41	2.57	0.30868	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	1.179070	0.06367	N	0.712854	T	0.02610	0.0079	N	0.00413	-1.525	0.80722	D	1	B;B	0.26876	0.001;0.162	B;B	0.14578	0.001;0.011	T	0.41034	-0.9531	10	0.12103	T	0.63	.	6.2599	0.20893	0.0:0.5603:0.0:0.4397	.	254;254	O43157;O43157-2	PLXB1_HUMAN;.	Q	254	ENSP00000296440:R254Q;ENSP00000351242:R254Q;ENSP00000351338:R254Q;ENSP00000414199:R254Q	ENSP00000296440:R254Q	R	-	2	0	PLXNB1	48440264	0.925000	0.31364	0.990000	0.47175	0.113000	0.19764	1.323000	0.33701	0.296000	0.22592	0.591000	0.81541	CGG		0.622	PLXNB1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344454.1	NM_002673		10	92	0	0	0	1	0	10	92					T	48465260	C	T	48465260	3	4	265	1	0	0	0	0	1	0	0	0	12123	652	23	2	5790	2	PLXNB1	3	48465260	Missense_Mutation	SNP	C	TCGA-J4-A67L-01A-11D-A30E-08		48465260	149557170	4	12405											
CD200R1L	344807	broad.mit.edu	37	chr3	112538718	112538718	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaatgatcagtaaggacaacGctggagatcctgaggttctg	12	9	13	7	1	2	3	1	2	1	1	3	6	3	4	1	3	1	3	1	3	3	2	rs191314755		TCGA-J4-A67L-01A-11D-A30E-08	TCGA-J4-A67L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7657dad4-c2db-417a-a77c-4de308ef3f61	046e13f7-4c6e-4ee1-97c8-8adf4fa21c42	g.chr3:112538718G>A	ENST00000398214.1	-	5	929	c.704C>T	c.(703-705)gCg>gTg	p.A235V	CD200R1L_ENST00000448932.1_Missense_Mutation_p.A214V|CD200R1L_ENST00000488794.1_Missense_Mutation_p.A214V	NM_001008784.2	NP_001008784.2	Q6Q8B3	MO2R2_HUMAN	CD200 receptor 1-like	235						integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|urinary_tract(2)	19						TAAGGACAACGCTGGAGATCC	0.373													G|||	1	0.000199681	0	0.0014	5008	,	,		18463	0		0	False		,,,				2504	0					ENST00000488794.1																			0				breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|urinary_tract(2)	19						c.(640-642)gCg>gTg		CD200 receptor 1-like		G	VAL/ALA,VAL/ALA	0,3710		0,0,1855	88	85	86		704,641	-7.7	0	3		86	1,8197		0,1,4098	no	missense,missense	CD200R1L	NM_001008784.2,NM_001199215.1	64,64	0,1,5953	AA,AG,GG		0.0122,0.0,0.0084	benign,benign	235/272,214/251	112538718	1,11907	1855	4099	5954	SO:0001583	missense	344807					integral to membrane	receptor activity	g.chr3:112538718G>A	AY284976	CCDS43131.1, CCDS56267.1	3q13.2	2014-05-15	2008-10-08		ENSG00000206531	ENSG00000206531		"Immunoglobulin superfamily / C2-set domain containing"	24665	protein-coding gene	gene with protein product	"CD200 receptor 2"						Standard	NM_001008784		Approved	CD200RLa, CD200R2	uc003dzi.1	Q6Q8B3	OTTHUMG00000159283	ENST00000398214.1:c.704C>T	3.37:g.112538718G>A	ENSP00000381272:p.Ala235Val					CD200R1L_ENST00000398214.1_Missense_Mutation_p.A235V|CD200R1L_ENST00000448932.1_Missense_Mutation_p.A214V	p.A214V			Q6Q8B3	MO2R2_HUMAN			7	1230	-			235			Ig-like C2-type.		Q6WHB7	Missense_Mutation	SNP	ENST00000398214.1	37	c.641C>T	CCDS43131.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	9.757	1.169002	0.21621	0.0	1.22E-4	ENSG00000206531	ENST00000398214;ENST00000488794;ENST00000448932	T;T;T	0.17691	2.26;2.26;2.26	3.84	-7.67	0.01272	.	.	.	.	.	T	0.09686	0.0238	L	0.43152	1.355	0.09310	N	1	B	0.18461	0.028	B	0.04013	0.001	T	0.25293	-1.0136	9	0.34782	T	0.22	.	1.7974	0.03064	0.2208:0.2273:0.4189:0.1329	.	235	Q6Q8B3	MO2R2_HUMAN	V	235;214;214	ENSP00000381272:A235V;ENSP00000418413:A214V;ENSP00000415132:A214V	ENSP00000381272:A235V	A	-	2	0	CD200R1L	114021408	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-1.225000	0.02956	-2.342000	0.00624	-0.142000	0.14014	GCG		0.373	CD200R1L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000354365.1	NM_001008784		15	50	0	0	0	1	0	15	50					A	112538718	G	A	112538718	3	1	265	1	0	0	0	0	1	0	0	0	2982	1087	38	1	119	1	CD200R1L	3	112538718	Missense_Mutation	SNP	G	TCGA-J4-A67L-01A-11D-A30E-08	64073458	112538718	85483712	5	12406											
ZNF595	152687	broad.mit.edu	37	chr4	59355	59355	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttcagggatgtggccatagaAttctcccctgaagagtggaa	11	10	12	8	0	2	3	1	1	1	2	3	5	2	5	3	3	0	0	3	3	4	3			TCGA-J4-A67L-01A-11D-A30E-08	TCGA-J4-A67L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7657dad4-c2db-417a-a77c-4de308ef3f61	046e13f7-4c6e-4ee1-97c8-8adf4fa21c42	g.chr4:59355A>T	ENST00000509152.2	+	2	221	c.36A>T	c.(34-36)gaA>gaT	p.E12D	ZNF595_ENST00000339368.6_3'UTR|ZNF595_ENST00000526473.2_Missense_Mutation_p.E12D			Q8IYB9	ZN595_HUMAN	zinc finger protein 595	12	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(5)|kidney(1)|large_intestine(1)|lung(11)|prostate(2)	20		all_cancers(4;0.0738)|all_epithelial(65;0.139)		Lung(54;0.0654)|Epithelial(2;0.0921)|all cancers(2;0.146)|LUSC - Lung squamous cell carcinoma(95;0.173)		TGGCCATAGAATTCTCCCCTG	0.428																																						ENST00000509152.2																			0				endometrium(5)|kidney(1)|large_intestine(1)|lung(11)|prostate(2)	20						c.(34-36)gaA>gaT		zinc finger protein 595							359	389	379					4																	59355		2203	4300	6503	SO:0001583	missense	152687							g.chr4:59355A>T	BX537887	CCDS75075.1, CCDS75076.1, CCDS75077.1	4p16.3	2013-01-08				ENSG00000272602		"Zinc fingers, C2H2-type", "-"	27196	protein-coding gene	gene with protein product						12477932	Standard	NM_182524		Approved	FLJ31740		Q8IYB9		ENST00000509152.2:c.36A>T	4.37:g.59355A>T	ENSP00000434858:p.Glu12Asp					ZNF595_ENST00000339368.6_3'UTR|ZNF595_ENST00000526473.2_Missense_Mutation_p.E12D	p.E12D						Lung(54;0.0654)|Epithelial(2;0.0921)|all cancers(2;0.146)|LUSC - Lung squamous cell carcinoma(95;0.173)	2	221	+		all_cancers(4;0.0738)|all_epithelial(65;0.139)							Missense_Mutation	SNP	ENST00000509152.2	37	c.36A>T		.	.	.	.	.	.	.	.	.	.	A	11.88	1.771346	0.31320	.	.	ENSG00000197701	ENST00000509152;ENST00000526473	T;T	0.01438	4.89;4.89	1.26	-0.566	0.11767	Krueppel-associated box (8);	.	.	.	.	T	0.03827	0.0108	.	.	.	0.19575	N	0.999967	D;D	0.89917	1.0;0.996	D;D	0.87578	0.998;0.987	T	0.46190	-0.9209	8	0.39692	T	0.17	.	1.8405	0.03149	0.399:0.3014:0.0:0.2996	.	12;12	Q8IYB9;Q3SXZ3	ZN595_HUMAN;ZN718_HUMAN	D	12	ENSP00000434858:E12D;ENSP00000437878:E12D	ENSP00000434858:E12D	E	+	3	2	ZNF595	49355	0.015000	0.18098	0.697000	0.30258	0.296000	0.27459	-1.612000	0.02061	0.549000	0.28973	0.397000	0.26171	GAA		0.428	ZNF595-004	PUTATIVE	basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000357817.2	NM_182524		13	516	0	0	0	1	0	13	516					T	59355	A	T	59355	3	4	265	1	0	0	0	0	1	0	0	0	18022	98	4	5	42	5	ZNF595	4	59355	Missense_Mutation	SNP	A	TCGA-J4-A67L-01A-11D-A30E-08		59355	191094921	6	12407											
LPHN3	23284	broad.mit.edu	37	chr4	62758468	62758468	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaggaaggagtaccaccccGtcagtgtcaggaagaagaaa	15	4	12	10	1	2	2	2	0	0	2	2	5	2	5	4	3	1	1	4	3	5	1	rs145773574	byFrequency	TCGA-J4-A67L-01A-11D-A30E-08	TCGA-J4-A67L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7657dad4-c2db-417a-a77c-4de308ef3f61	046e13f7-4c6e-4ee1-97c8-8adf4fa21c42	g.chr4:62758468G>A	ENST00000514591.1	+	9	1700	c.1371G>A	c.(1369-1371)ccG>ccA	p.P457P	LPHN3_ENST00000512091.2_Silent_p.P457P|LPHN3_ENST00000508693.1_Silent_p.P525P|LPHN3_ENST00000511324.1_Silent_p.P525P|LPHN3_ENST00000514996.1_Silent_p.P457P|LPHN3_ENST00000545650.1_Silent_p.P457P|LPHN3_ENST00000506700.1_Silent_p.P457P|LPHN3_ENST00000514157.1_Silent_p.P457P|LPHN3_ENST00000507164.1_Silent_p.P525P|LPHN3_ENST00000508946.1_Silent_p.P457P|LPHN3_ENST00000506746.1_Silent_p.P525P|LPHN3_ENST00000507625.1_Silent_p.P525P|LPHN3_ENST00000509896.1_Silent_p.P525P|LPHN3_ENST00000504896.1_Silent_p.P457P|LPHN3_ENST00000506720.1_Silent_p.P525P			Q9HAR2	LPHN3_HUMAN	latrophilin 3	457					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|G-protein coupled receptor activity (GO:0004930)			breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						GTACCACCCCGTCAGTGTCAG	0.522													G|||	2	0.000399361	0	0	5008	,	,		16196	0		0.001	False		,,,				2504	0.001					ENST00000512091.1																			0				breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						c.(1369-1371)ccG>ccA		latrophilin 3		G		0,4026		0,0,2013	123	117	119		1371	-11.7	0	4	dbSNP_134	119	1,8335		0,1,4167	no	coding-synonymous	LPHN3	NM_015236.4		0,1,6180	AA,AG,GG		0.012,0.0,0.0081		457/1470	62758468	1,12361	2013	4168	6181	SO:0001819	synonymous_variant	23284				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding	g.chr4:62758468G>A	AB018311	CCDS54768.1	4q13.1	2014-08-08				ENSG00000150471		"-", "GPCR / Class B : Orphans"	20974	protein-coding gene	gene with protein product						10994649	Standard	NM_015236		Approved	KIAA0768, LEC3	uc010ihh.3	Q9HAR2		ENST00000514591.1:c.1371G>A	4.37:g.62758468G>A						LPHN3_ENST00000514157.1_Silent_p.P457P|LPHN3_ENST00000509896.1_Silent_p.P525P|LPHN3_ENST00000508946.1_Silent_p.P457P|LPHN3_ENST00000545650.1_Silent_p.P457P|LPHN3_ENST00000508693.1_Silent_p.P525P|LPHN3_ENST00000507625.1_Silent_p.P525P|LPHN3_ENST00000514591.1_Silent_p.P457P|LPHN3_ENST00000507164.1_Silent_p.P525P|LPHN3_ENST00000506746.1_Silent_p.P525P|LPHN3_ENST00000511324.1_Silent_p.P525P|LPHN3_ENST00000506720.1_Silent_p.P525P|LPHN3_ENST00000504896.1_Silent_p.P457P|LPHN3_ENST00000514996.1_Silent_p.P457P|LPHN3_ENST00000506700.1_Silent_p.P457P	p.P457P			Q9HAR2	LPHN3_HUMAN			9	2118	+			457					E9PE04|O94867|Q9NWK5	Silent	SNP	ENST00000514591.1	37	c.1371G>A	CCDS54768.1																																																																																				0.522	LPHN3-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000361765.1			24	131	0	0	0	1	0	24	131					A	62758468	G	A	62758468	2	1	265	1	0	0	0	0	0	0	0	1	8917	1132	40	1		1	LPHN3	4	62758468	Silent	SNP	G	TCGA-J4-A67L-01A-11D-A30E-08	62699113	62758468	128395808	7	12408											
PRDM8	56978	broad.mit.edu	37	chr4	81123567	81123567	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaaggaaagaggaaattcccGgaggaggcggcggagggcgg	13	2	20	6	4	0	1	0	0	0	1	1	6	1	6	1	9	0	0	1	9	3	1			TCGA-J4-A67L-01A-11D-A30E-08	TCGA-J4-A67L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7657dad4-c2db-417a-a77c-4de308ef3f61	046e13f7-4c6e-4ee1-97c8-8adf4fa21c42	g.chr4:81123567G>A	ENST00000504452.1	+	8	1790	c.951G>A	c.(949-951)ccG>ccA	p.P317P	PRDM8_ENST00000339711.4_Silent_p.P317P|PRDM8_ENST00000415738.2_Silent_p.P317P			Q9NQV8	PRDM8_HUMAN	PR domain containing 8	317	Gly-rich.				corpus callosum morphogenesis (GO:0021540)|corticospinal tract morphogenesis (GO:0021957)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone methyltransferase activity (H3-K9 specific) (GO:0046974)|metal ion binding (GO:0046872)|transcription corepressor activity (GO:0003714)			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(2)	10						GGAAATTCCCGGAGGAGGCGG	0.741																																						ENST00000339711.4																			0				breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(2)	10						c.(949-951)ccG>ccA		PR domain containing 8							2	3	3					4																	81123567		1242	3005	4247	SO:0001819	synonymous_variant	56978				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr4:81123567G>A	AF275815	CCDS43243.1	4q21	2008-08-21				ENSG00000152784			13993	protein-coding gene	gene with protein product							Standard	NM_020226		Approved		uc003hmc.4	Q9NQV8		ENST00000504452.1:c.951G>A	4.37:g.81123567G>A						PRDM8_ENST00000415738.2_Silent_p.P317P|PRDM8_ENST00000504452.1_Silent_p.P317P	p.P317P	NM_020226.3	NP_064611.3	Q9NQV8	PRDM8_HUMAN			10	2182	+			317			Gly-rich.		A8K7X2|Q6IQ36	Silent	SNP	ENST00000504452.1	37	c.951G>A	CCDS43243.1																																																																																				0.741	PRDM8-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362793.1			3	11	0	0	0	1	0	3	11					A	81123567	G	A	81123567	2	1	265	1	0	0	0	0	0	0	0	1	12462	1103	39	2		2	PRDM8	4	81123567	Silent	SNP	G	TCGA-J4-A67L-01A-11D-A30E-08	18365099	81123567	110030709	8	12409											
MRPS18C	51023	broad.mit.edu	37	chr4	84377254	84377254	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gccgctgtggttgctgtttgCggtggtctagggaggaagaa	6	11	18	6	2	1	1	0	0	1	1	1	3	1	3	1	5	2	4	1	5	3	3	rs141532727	byFrequency	TCGA-J4-A67L-01A-11D-A30E-08	TCGA-J4-A67L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7657dad4-c2db-417a-a77c-4de308ef3f61	046e13f7-4c6e-4ee1-97c8-8adf4fa21c42	g.chr4:84377254C>T	ENST00000295491.4	+	1	137	c.24C>T	c.(22-24)tgC>tgT	p.C8C	MRPS18C_ENST00000507349.1_Silent_p.C8C|HELQ_ENST00000440639.2_5'Flank|HELQ_ENST00000510985.1_5'Flank|HELQ_ENST00000295488.3_5'Flank|MRPS18C_ENST00000507019.1_Silent_p.C8C	NM_016067.2	NP_057151.1	Q9Y3D5	RT18C_HUMAN	mitochondrial ribosomal protein S18C	8					translation (GO:0006412)	mitochondrial small ribosomal subunit (GO:0005763)	structural constituent of ribosome (GO:0003735)			endometrium(1)|kidney(1)|large_intestine(2)|lung(1)	5		Hepatocellular(203;0.114)				TTGCTGTTTGCGGTGGTCTAG	0.552																																						ENST00000295491.4																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(1)	5						c.(22-24)tgC>tgT		mitochondrial ribosomal protein S18C		C		4,4402	8.1+/-20.4	0,4,2199	190	195	193		24	0	0	4	dbSNP_134	193	0,8600		0,0,4300	no	coding-synonymous	MRPS18C	NM_016067.2		0,4,6499	TT,TC,CC		0.0,0.0908,0.0308		8/143	84377254	4,13002	2203	4300	6503	SO:0001819	synonymous_variant	51023				translation	mitochondrial small ribosomal subunit	structural constituent of ribosome	g.chr4:84377254C>T		CCDS3604.1, CCDS75159.1	4q21.21-q21.23	2012-09-13			ENSG00000163319	ENSG00000163319		"Mitochondrial ribosomal proteins / small subunits"	16633	protein-coding gene	gene with protein product		611983				11279123, 10810093	Standard	XM_005263043		Approved	MRPS18-1, CGI-134, FLJ11146, FLJ22967	uc003hor.4	Q9Y3D5	OTTHUMG00000130430	ENST00000295491.4:c.24C>T	4.37:g.84377254C>T						MRPS18C_ENST00000507349.1_Silent_p.C8C|MRPS18C_ENST00000507019.1_Silent_p.C8C	p.C8C	NM_016067.2	NP_057151.1	Q9Y3D5	RT18C_HUMAN			1	137	+		Hepatocellular(203;0.114)	8						Silent	SNP	ENST00000295491.4	37	c.24C>T	CCDS3604.1	.	.	.	.	.	.	.	.	.	.	C	5.334	0.246952	0.10130	9.08E-4	0.0	ENSG00000163319	ENST00000509970	.	.	.	4.72	-0.0422	0.13864	.	.	.	.	.	T	0.23451	0.0567	.	.	.	0.19775	N	0.999951	.	.	.	.	.	.	T	0.25537	-1.0129	4	.	.	.	0.0289	4.1526	0.10245	0.0:0.4496:0.1685:0.3819	.	.	.	.	W	7	.	.	R	+	1	2	MRPS18C	84596278	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.225000	0.02956	0.037000	0.15575	-0.137000	0.14449	CGG		0.552	MRPS18C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252820.2			5	315	0	0	0	1	0	5	315					T	84377254	C	T	84377254	2	4	265	1	0	0	0	0	0	0	0	1	9830	776	27	1		1	MRPS18C	4	84377254	Silent	SNP	C	TCGA-J4-A67L-01A-11D-A30E-08	3253687	84377254	106777022	9	12410											
EXOSC9	5393	broad.mit.edu	37	chr4	122723880	122723880	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctccaaaactcaatcgggcAacagaaggtattcttttttt	12	14	6	9	1	3	1	1	0	2	1	5	1	3	1	1	2	2	2	1	2	6	5			TCGA-J4-A67L-01A-11D-A30E-08	TCGA-J4-A67L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7657dad4-c2db-417a-a77c-4de308ef3f61	046e13f7-4c6e-4ee1-97c8-8adf4fa21c42	g.chr4:122723880A>C	ENST00000243498.5	+	3	321	c.213A>C	c.(211-213)gcA>gcC	p.A71A	EXOSC9_ENST00000512454.1_Silent_p.A55A|EXOSC9_ENST00000379663.3_Silent_p.A71A|EXOSC9_ENST00000509980.1_3'UTR	NM_005033.2	NP_005024.2	Q06265	EXOS9_HUMAN	exosome component 9	71	ARE binding.				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|immune response (GO:0006955)|mRNA metabolic process (GO:0016071)|nuclear mRNA surveillance (GO:0071028)|nuclear polyadenylation-dependent rRNA catabolic process (GO:0071035)|nuclear-transcribed mRNA catabolic process (GO:0000956)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|positive regulation of cell growth (GO:0030307)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|exosome (RNase complex) (GO:0000178)|intermediate filament cytoskeleton (GO:0045111)|nuclear exosome (RNase complex) (GO:0000176)|nucleolus (GO:0005730)|nucleus (GO:0005634)	3'-5'-exoribonuclease activity (GO:0000175)|AU-rich element binding (GO:0017091)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(4)|urinary_tract(1)	16						TCAATCGGGCAACAGAAGGTA	0.388																																						ENST00000512454.1																			0				cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(4)|urinary_tract(1)	16						c.(163-165)gcA>gcC		exosome component 9							96	100	99					4																	122723880		2203	4300	6503	SO:0001819	synonymous_variant	5393				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|immune response|nuclear mRNA surveillance|nuclear polyadenylation-dependent rRNA catabolic process|positive regulation of cell growth|rRNA processing	cytosol|nuclear exosome (RNase complex)|nucleolus|nucleus	3'-5'-exoribonuclease activity|AU-rich element binding|protein binding	g.chr4:122723880A>C	M58460	CCDS3722.2, CCDS34057.1	4q27	2010-05-07	2004-06-16	2004-06-18	ENSG00000123737	ENSG00000123737	3.1.13.-		9137	protein-coding gene	gene with protein product	"polymyositis/scleroderma autoantigen 1 (75kD)"	606180	"polymyositis/scleroderma autoantigen 1, 75kDa"	PMSCL1			Standard	XR_427545		Approved	PM/Scl-75, Rrp45p, RRP45, p5, p6	uc003idz.3	Q06265	OTTHUMG00000128783	ENST00000243498.5:c.213A>C	4.37:g.122723880A>C						EXOSC9_ENST00000243498.5_Silent_p.A71A|EXOSC9_ENST00000379663.3_Silent_p.A71A|EXOSC9_ENST00000509980.1_3'UTR	p.A55A			Q06265	EXOS9_HUMAN			2	381	+			71			ARE binding.		Q12883|Q4W5P5|Q86Y41|Q86Y48	Silent	SNP	ENST00000243498.5	37	c.165A>C	CCDS3722.2																																																																																				0.388	EXOSC9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250708.2	NM_005033		19	78	0	0	0	1	0	19	78					C	122723880	A	C	122723880	2	2	265	1	0	0	0	0	0	0	0	1	5321	117	5	5		5	EXOSC9	4	122723880	Silent	SNP	A	TCGA-J4-A67L-01A-11D-A30E-08	38346626	122723880	68430396	10	12411											
ZNF827	152485	broad.mit.edu	37	chr4	146823320	146823320	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aaagaaaagatgccatacctGaattggagggtttagaaact	17	9	10	5	0	0	4	0	1	0	3	0	5	0	5	2	2	3	1	2	2	7	4			TCGA-J4-A67L-01A-11D-A30E-08	TCGA-J4-A67L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7657dad4-c2db-417a-a77c-4de308ef3f61	046e13f7-4c6e-4ee1-97c8-8adf4fa21c42	g.chr4:146823320G>C	ENST00000508784.1	-	2	1318	c.1091C>G	c.(1090-1092)tCa>tGa	p.S364*	ZNF827_ENST00000379448.4_Nonsense_Mutation_p.S364*|ZNF827_ENST00000513320.1_Intron			Q17R98	ZN827_HUMAN	zinc finger protein 827	364					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48	all_hematologic(180;0.151)					TGCCATACCTGAATTGGAGGG	0.448																																						ENST00000508784.1																			0				NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						c.(1090-1092)tCa>tGa		zinc finger protein 827							62	64	63					4																	146823320		2203	4300	6503	SO:0001587	stop_gained	152485				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr4:146823320G>C	AK091130	CCDS34072.1	4q31.22	2013-01-08			ENSG00000151612	ENSG00000151612		"Zinc fingers, C2H2-type"	27193	protein-coding gene	gene with protein product						12477932	Standard	NM_178835		Approved		uc003ikm.3	Q17R98	OTTHUMG00000161362	ENST00000508784.1:c.1091C>G	4.37:g.146823320G>C	ENSP00000421863:p.Ser364*					ZNF827_ENST00000513320.1_Intron|ZNF827_ENST00000379448.4_Nonsense_Mutation_p.S364*	p.S364*			Q17R98	ZN827_HUMAN			2	1318	-	all_hematologic(180;0.151)		364					B7ZL52|Q7Z4S7|Q8N279	Nonsense_Mutation	SNP	ENST00000508784.1	37	c.1091C>G		.	.	.	.	.	.	.	.	.	.	G	39	7.447705	0.98289	.	.	ENSG00000151612	ENST00000508784;ENST00000379448;ENST00000281318	.	.	.	5.17	5.17	0.71159	.	0.323582	0.33144	N	0.005238	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.10902	T	0.67	-17.5947	13.6073	0.62054	0.0:0.0:0.8448:0.1552	.	.	.	.	X	364;364;363	.	ENSP00000281318:S363X	S	-	2	0	ZNF827	147042770	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.880000	0.63107	2.424000	0.82194	0.555000	0.69702	TCA		0.448	ZNF827-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000364654.2	NM_178835		5	39	0	0	0	1	0	5	39					C	146823320	G	C	146823320	4	2	265	1	0	0	0	0	0	1	0	0	18177	1294	45	5	2190	5	ZNF827	4	146823320	Nonsense_Mutation	SNP	G	TCGA-J4-A67L-01A-11D-A30E-08	24099440	146823320	44330956	11	12412											
WDR17	116966	broad.mit.edu	37	chr4	177071069	177071069	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctgtacaaataaatattcTggcagacagatcttgggaag	14	11	9	7	0	2	2	0	0	2	2	3	3	3	3	1	2	1	2	1	2	6	5			TCGA-J4-A67L-01A-11D-A30E-08	TCGA-J4-A67L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7657dad4-c2db-417a-a77c-4de308ef3f61	046e13f7-4c6e-4ee1-97c8-8adf4fa21c42	g.chr4:177071069T>C	ENST00000280190.4	+	15	2237	c.2081T>C	c.(2080-2082)cTg>cCg	p.L694P	WDR17_ENST00000508596.1_Missense_Mutation_p.L670P|WDR17_ENST00000393643.2_Missense_Mutation_p.L670P|WDR17_ENST00000507824.2_Missense_Mutation_p.L677P			Q8IZU2	WDR17_HUMAN	WD repeat domain 17	694										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(18)|lung(46)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	92		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)		ATAAATATTCTGGCAGACAGA	0.393																																						ENST00000393643.2																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(18)|lung(46)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	92						c.(2008-2010)cTg>cCg		WD repeat domain 17							103	107	106					4																	177071069		2203	4300	6503	SO:0001583	missense	116966							g.chr4:177071069T>C	AF492460	CCDS3825.1, CCDS43284.1, CCDS43284.2	4q34	2013-01-09			ENSG00000150627	ENSG00000150627		"WD repeat domain containing"	16661	protein-coding gene	gene with protein product		609005				12401215	Standard	NM_170710		Approved		uc003iuj.3	Q8IZU2	OTTHUMG00000160791	ENST00000280190.4:c.2081T>C	4.37:g.177071069T>C	ENSP00000280190:p.Leu694Pro					WDR17_ENST00000507824.2_Missense_Mutation_p.L677P|WDR17_ENST00000508596.1_Missense_Mutation_p.L670P|WDR17_ENST00000280190.4_Missense_Mutation_p.L694P	p.L670P	NM_170710.4	NP_733828.2	Q8IZU2	WDR17_HUMAN		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)	14	2261	+		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)	694					E7EQX0|Q0QD35	Missense_Mutation	SNP	ENST00000280190.4	37	c.2009T>C	CCDS3825.1	.	.	.	.	.	.	.	.	.	.	T	20.4	3.989759	0.74589	.	.	ENSG00000150627	ENST00000508596;ENST00000393643;ENST00000280190;ENST00000507824	T;T;T	0.61274	0.15;0.18;0.12	5.38	5.38	0.77491	WD40/YVTN repeat-like-containing domain (1);	0.193219	0.33075	N	0.005307	T	0.74831	0.3768	M	0.75447	2.3	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.68621	0.959;0.959	T	0.78003	-0.2374	10	0.62326	D	0.03	-0.0139	15.3784	0.74633	0.0:0.0:0.0:1.0	.	670;694	E7EQX0;Q8IZU2	.;WDR17_HUMAN	P	670;670;694;677	ENSP00000422763:L670P;ENSP00000377258:L670P;ENSP00000280190:L694P	ENSP00000280190:L694P	L	+	2	0	WDR17	177308063	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.320000	0.79064	2.026000	0.59711	0.460000	0.39030	CTG		0.393	WDR17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362334.2			4	155	0	0	0	1	0	4	155					C	177071069	T	C	177071069	3	2	265	1	0	0	0	0	1	0	0	0	17274	1580	55	4	2135	4	WDR17	4	177071069	Missense_Mutation	SNP	T	TCGA-J4-A67L-01A-11D-A30E-08	30247749	177071069	14083207	12	12413											
PCDHA6	56142	broad.mit.edu	37	chr5	140209377	140209377	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacgcgccggcgctgctggcGcctcgggtgggtggtactgg	3	7	19	12	6	0	0	0	0	0	0	1	0	0	0	2	6	3	3	2	6	2	1			TCGA-J4-A67L-01A-11D-A30E-08	TCGA-J4-A67L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7657dad4-c2db-417a-a77c-4de308ef3f61	046e13f7-4c6e-4ee1-97c8-8adf4fa21c42	g.chr5:140209377G>A	ENST00000529310.1	+	1	1815	c.1701G>A	c.(1699-1701)gcG>gcA	p.A567A	PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron	NM_018909.2|NM_031848.2|NM_031849.1	NP_061732.1|NP_114036.1|NP_114037.1	Q9UN73	PCDA6_HUMAN	protocadherin alpha 6	567					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	89			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGCTGCTGGCGCCTCGGGTGG	0.701																																						ENST00000529310.1																			0				NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						c.(1699-1701)gcG>gcA									69	74	72					5																	140209377		2203	4299	6502	SO:0001819	synonymous_variant	0							g.chr5:140209377G>A	AF152484	CCDS47281.1, CCDS47282.1	5q31	2010-11-26			ENSG00000081842	ENSG00000081842		"Cadherins / Protocadherins : Clustered"	8672	other	complex locus constituent	"KIAA0345-like 8"	606312		CNRS2		10380929, 10662547	Standard	NM_018909		Approved	CNR2, CRNR2, PCDH-ALPHA6		Q9UN73	OTTHUMG00000163353	ENST00000529310.1:c.1701G>A	5.37:g.140209377G>A						PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron	p.A567A	NM_018909.2|NM_031848.1|NM_031849.1	NP_061732.1|NP_114036.1|NP_114037.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1815	+								O75283|Q9NRT8	Silent	SNP	ENST00000529310.1	37	c.1701G>A	CCDS47281.1																																																																																				0.701	PCDHA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372829.3	NM_018909		38	186	0	0	0	1	0	38	186					A	140209377	G	A	140209377	2	1	265	1	0	0	0	0	0	0	0	1	11528	1074	38	1		1	PCDHA6	5	140209377	Silent	SNP	G	TCGA-J4-A67L-01A-11D-A30E-08		140209377	40705883	13	12414											
HK3	3101	broad.mit.edu	37	chr5	176308519	176308519	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctaggatggctcggacctgcCgcagggccaggctgtcactg	6	7	15	13	2	1	0	1	0	0	0	2	2	1	2	3	5	1	3	3	5	1	1	rs201695375	byFrequency	TCGA-J4-A67L-01A-11D-A30E-08	TCGA-J4-A67L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7657dad4-c2db-417a-a77c-4de308ef3f61	046e13f7-4c6e-4ee1-97c8-8adf4fa21c42	g.chr5:176308519C>T	ENST00000292432.5	-	18	2502	c.2411G>A	c.(2410-2412)cGg>cAg	p.R804Q		NM_002115.2	NP_002106.2	P52790	HXK3_HUMAN	hexokinase 3 (white cell)	804	Catalytic.|Hexokinase type-2 2.				carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|cellular glucose homeostasis (GO:0001678)|glucose 6-phosphate metabolic process (GO:0051156)|glucose transport (GO:0015758)|glycolytic process (GO:0006096)|hexose metabolic process (GO:0019318)|hexose transport (GO:0008645)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|protein complex (GO:0043234)	ATP binding (GO:0005524)|fructokinase activity (GO:0008865)|glucokinase activity (GO:0004340)|hexokinase activity (GO:0004396)|hormone binding (GO:0042562)|mannokinase activity (GO:0019158)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47	all_cancers(89;0.000104)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TCGGACCTGCCGCAGGGCCAG	0.637													C|||	2	0.000399361	0	0	5008	,	,		17558	0.001		0	False		,,,				2504	0.001					ENST00000292432.5																			0				breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						c.(2410-2412)cGg>cAg		hexokinase 3 (white cell)							17	21	19					5																	176308519		2202	4297	6499	SO:0001583	missense	3101				glucose transport|glycolysis|transmembrane transport	cytosol|membrane	ATP binding|glucokinase activity	g.chr5:176308519C>T		CCDS4407.1	5q35.2	2008-02-05			ENSG00000160883	ENSG00000160883	2.7.1.1		4925	protein-coding gene	gene with protein product		142570				8812439	Standard	NM_002115		Approved		uc003mfa.3	P52790	OTTHUMG00000130855	ENST00000292432.5:c.2411G>A	5.37:g.176308519C>T	ENSP00000292432:p.Arg804Gln						p.R804Q	NM_002115.2	NP_002106.2	P52790	HXK3_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		18	2502	-	all_cancers(89;0.000104)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	804			Catalytic.		Q8N1E7	Missense_Mutation	SNP	ENST00000292432.5	37	c.2411G>A	CCDS4407.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	8.842	0.942389	0.18281	.	.	ENSG00000160883	ENST00000292432	D	0.96365	-3.99	5.35	4.47	0.54385	Hexokinase, C-terminal (1);	0.000000	0.50627	D	0.000107	D	0.90789	0.7108	L	0.33485	1.01	0.34173	D	0.670049	B	0.21520	0.057	B	0.15484	0.013	D	0.86356	0.1714	10	0.13108	T	0.6	.	7.7173	0.28712	0.1641:0.752:0.0:0.0838	.	804	P52790	HXK3_HUMAN	Q	804	ENSP00000292432:R804Q	ENSP00000292432:R804Q	R	-	2	0	HK3	176241125	0.788000	0.28762	1.000000	0.80357	0.995000	0.86356	0.430000	0.21428	2.667000	0.90743	0.561000	0.74099	CGG		0.637	HK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253428.1			5	37	0	0	0	1	0	5	37					T	176308519	C	T	176308519	3	4	265	1	0	0	0	0	1	0	0	0	7192	652	23	2	368	2	HK3	5	176308519	Missense_Mutation	SNP	C	TCGA-J4-A67L-01A-11D-A30E-08	36099142	176308519	4606741	14	12415											
UTRN	7402	broad.mit.edu	37	chr6	144844318	144844318	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	taatagaatgtacagtgatcGgaaagggtatgtgtaaatga	16	11	12	2	1	0	3	0	2	0	1	1	4	0	4	0	2	1	3	0	2	8	5			TCGA-J4-A67L-01A-11D-A30E-08	TCGA-J4-A67L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7657dad4-c2db-417a-a77c-4de308ef3f61	046e13f7-4c6e-4ee1-97c8-8adf4fa21c42	g.chr6:144844318G>A	ENST00000367545.3	+	40	5900	c.5900G>A	c.(5899-5901)cGg>cAg	p.R1967Q		NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	1967					aging (GO:0007568)|muscle cell differentiation (GO:0042692)|muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|neuron projection morphogenesis (GO:0048812)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of sodium ion transmembrane transporter activity (GO:2000649)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dystrophin-associated glycoprotein complex (GO:0016010)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane (GO:0016020)|membrane raft (GO:0045121)|myofibril (GO:0030016)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|protein kinase binding (GO:0019901)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)	p.R1967L(1)		NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		TACAGTGATCGGAAAGGGTAT	0.378																																						ENST00000367545.3																			1	Substitution - Missense(1)	p.R1967L(1)	lung(1)	NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148						c.(5899-5901)cGg>cAg		utrophin							69	67	68					6																	144844318		2203	4300	6503	SO:0001583	missense	7402				muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding	g.chr6:144844318G>A	AK023675	CCDS34547.1	6q24	2008-02-05	2006-12-13		ENSG00000152818	ENSG00000152818			12635	protein-coding gene	gene with protein product		128240	"utrophin (homologous to dystrophin)"	DMDL		1426262	Standard	NM_007124		Approved	DRP, DRP1	uc003qkt.3	P46939	OTTHUMG00000015746	ENST00000367545.3:c.5900G>A	6.37:g.144844318G>A	ENSP00000356515:p.Arg1967Gln						p.R1967Q	NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)	40	5900	+		Ovarian(120;0.218)	1967					Q5SYY1|Q5SZ57|Q9UJ40	Missense_Mutation	SNP	ENST00000367545.3	37	c.5900G>A	CCDS34547.1	.	.	.	.	.	.	.	.	.	.	G	14.43	2.534221	0.45073	.	.	ENSG00000152818	ENST00000367545	T	0.48836	0.8	5.8	0.956	0.19608	.	0.119448	0.38217	N	0.001778	T	0.26448	0.0646	M	0.77103	2.36	0.80722	D	1	B	0.32396	0.369	B	0.21917	0.037	T	0.10706	-1.0618	10	0.38643	T	0.18	.	10.5887	0.45298	0.3182:0.0:0.6818:0.0	.	1967	P46939	UTRO_HUMAN	Q	1967	ENSP00000356515:R1967Q	ENSP00000356515:R1967Q	R	+	2	0	UTRN	144886011	0.930000	0.31532	0.526000	0.27913	0.755000	0.42902	1.422000	0.34826	0.097000	0.17492	-0.216000	0.12614	CGG		0.378	UTRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042551.1			11	38	0	0	0	1	0	11	38					A	144844318	G	A	144844318	3	1	265	1	0	0	0	0	1	0	0	0	17100	1116	39	2	6058	2	UTRN	6	144844318	Missense_Mutation	SNP	G	TCGA-J4-A67L-01A-11D-A30E-08		144844318	26270749	15	12416											
GRM8	2918	broad.mit.edu	37	chr7	126173392	126173392	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgggcgctgtgacagattTcttcccctgctcaaatattc	7	14	8	12	1	2	2	1	1	1	1	4	2	3	2	2	1	1	2	2	1	2	5			TCGA-J4-A67L-01A-11D-A30E-08	TCGA-J4-A67L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7657dad4-c2db-417a-a77c-4de308ef3f61	046e13f7-4c6e-4ee1-97c8-8adf4fa21c42	g.chr7:126173392T>C	ENST00000339582.2	-	9	2852	c.2044A>G	c.(2044-2046)Aaa>Gaa	p.K682E	GRM8_ENST00000480995.1_5'UTR|GRM8_ENST00000444921.2_Missense_Mutation_p.K682E|GRM8_ENST00000358373.3_Missense_Mutation_p.K682E			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	682					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|negative regulation of cAMP biosynthetic process (GO:0030818)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of smell (GO:0007608)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)				GTGACAGATTTCTTCCCCTGC	0.507										HNSCC(24;0.065)																												ENST00000339582.2																			0				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125						c.(2044-2046)Aaa>Gaa		glutamate receptor, metabotropic 8	L-Glutamic Acid(DB00142)						93	83	87					7																	126173392		2203	4300	6503	SO:0001583	missense	0				negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane		g.chr7:126173392T>C		CCDS5794.1, CCDS47696.1	7q31.3-q32.1	2012-08-29			ENSG00000179603	ENSG00000179603		"GPCR / Class C : Glutamate receptors, metabotropic", "Glutamate receptors"	4600	protein-coding gene	gene with protein product		601116				8824806	Standard	NM_000845		Approved	GLUR8, GPRC1H, mGlu8, MGLUR8	uc003vlr.2	O00222	OTTHUMG00000022888	ENST00000339582.2:c.2044A>G	7.37:g.126173392T>C	ENSP00000344173:p.Lys682Glu	HNSCC(24;0.065)				GRM8_ENST00000444921.2_Missense_Mutation_p.K682E|GRM8_ENST00000480995.1_5'UTR|GRM8_ENST00000358373.3_Missense_Mutation_p.K682E	p.K682E			O00222	GRM8_HUMAN			9	2852	-		Prostate(267;0.186)	682					A4D0Y3|B0FZ74|B0M0L0|O15493|O95945|O95946|Q3MIV9|Q52M02|Q6J165	Missense_Mutation	SNP	ENST00000339582.2	37	c.2044A>G	CCDS5794.1	.	.	.	.	.	.	.	.	.	.	T	14.12	2.441982	0.43326	.	.	ENSG00000179603	ENST00000339582;ENST00000444921;ENST00000358373	D;D;D	0.88354	-2.37;-2.37;-2.37	5.82	5.82	0.92795	GPCR, family 3, C-terminal (2);	0.000000	0.85682	D	0.000000	D	0.89508	0.6735	L	0.58810	1.83	0.80722	D	1	D;P	0.53151	0.958;0.741	P;B	0.48982	0.597;0.41	D	0.88311	0.2956	10	0.32370	T	0.25	.	15.3625	0.74492	0.0:0.0:0.0:1.0	.	682;682	O00222-2;O00222	.;GRM8_HUMAN	E	682	ENSP00000344173:K682E;ENSP00000409790:K682E;ENSP00000351142:K682E	ENSP00000344173:K682E	K	-	1	0	GRM8	125960628	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.194000	0.42668	2.234000	0.73211	0.533000	0.62120	AAA		0.507	GRM8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059209.4			7	91	0	0	0	1	0	7	91					C	126173392	T	C	126173392	3	2	265	1	0	0	0	0	1	0	0	0	6803	1792	62	4	744	4	GRM8	7	126173392	Missense_Mutation	SNP	T	TCGA-J4-A67L-01A-11D-A30E-08		126173392	32965271	16	12417											
NUP205	23165	broad.mit.edu	37	chr7	135300708	135300708	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agatgtcatggcttatgaaaActgcctcaatagagctaagg	14	10	10	7	0	2	3	2	1	0	2	2	3	2	3	1	2	3	2	1	2	6	3			TCGA-J4-A67L-01A-11D-A30E-08	TCGA-J4-A67L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7657dad4-c2db-417a-a77c-4de308ef3f61	046e13f7-4c6e-4ee1-97c8-8adf4fa21c42	g.chr7:135300708A>G	ENST00000285968.6	+	24	3381	c.3355A>G	c.(3355-3357)Act>Gct	p.T1119A		NM_015135.2	NP_055950	Q92621	NU205_HUMAN	nucleoporin 205kDa	1119					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|nucleocytoplasmic transport (GO:0006913)|protein import into nucleus, docking (GO:0000059)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)	structural constituent of nuclear pore (GO:0017056)			breast(4)|central_nervous_system(2)|endometrium(9)|kidney(7)|large_intestine(17)|liver(4)|lung(36)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	93						GCTTATGAAAACTGCCTCAAT	0.393																																						ENST00000285968.6																			0				breast(4)|central_nervous_system(2)|endometrium(9)|kidney(7)|large_intestine(17)|liver(4)|lung(36)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	93						c.(3355-3357)Act>Gct		nucleoporin 205kDa							121	109	113					7																	135300708		2203	4300	6503	SO:0001583	missense	23165				carbohydrate metabolic process|glucose transport|mRNA transport|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding	g.chr7:135300708A>G	D86978	CCDS34759.1	7q31.32	2007-03-26	2004-01-06	2004-01-07	ENSG00000155561	ENSG00000155561			18658	protein-coding gene	gene with protein product		614352	"chromosome 7 open reading frame 14"	C7orf14		9039502, 9348540	Standard	NM_015135		Approved	KIAA0225	uc003vsw.3	Q92621	OTTHUMG00000155497	ENST00000285968.6:c.3355A>G	7.37:g.135300708A>G	ENSP00000285968:p.Thr1119Ala						p.T1119A	NM_015135.2	NP_055950.1	Q92621	NU205_HUMAN			24	3381	+			1119					A6H8X3|Q86YC1	Missense_Mutation	SNP	ENST00000285968.6	37	c.3355A>G	CCDS34759.1	.	.	.	.	.	.	.	.	.	.	A	17.15	3.317143	0.60524	.	.	ENSG00000155561	ENST00000285968	T	0.29655	1.56	6.16	6.16	0.99307	.	0.000000	0.85682	D	0.000000	T	0.28566	0.0707	L	0.41710	1.295	0.80722	D	1	B	0.30326	0.276	B	0.32393	0.145	T	0.05007	-1.0912	10	0.18710	T	0.47	-18.0923	16.8061	0.85666	1.0:0.0:0.0:0.0	.	1119	Q92621	NU205_HUMAN	A	1119	ENSP00000285968:T1119A	ENSP00000285968:T1119A	T	+	1	0	NUP205	134951248	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	8.962000	0.93254	2.367000	0.80283	0.528000	0.53228	ACT		0.393	NUP205-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340358.1			17	45	0	0	0	1	0	17	45					G	135300708	A	G	135300708	3	3	265	1	0	0	0	0	1	0	0	0	10759	43	2	4	3449	4	NUP205	7	135300708	Missense_Mutation	SNP	A	TCGA-J4-A67L-01A-11D-A30E-08	9127316	135300708	23837955	17	12418											
SSPO	23145	broad.mit.edu	37	chr7	149509149	149509149	+	RNA	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgccagccacccccacacCtctctgctcaggccccgagg	6	5	8	22	1	2	0	1	0	1	0	3	1	2	0	8	2	3	1	8	2	0	0			TCGA-J4-A67L-01A-11D-A30E-08	TCGA-J4-A67L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7657dad4-c2db-417a-a77c-4de308ef3f61	046e13f7-4c6e-4ee1-97c8-8adf4fa21c42	g.chr7:149509149C>T	ENST00000378016.2	+	0	9695							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion (GO:0007155)	extracellular space (GO:0005615)	peptidase inhibitor activity (GO:0030414)					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			ACCCCCACACCTCTCTGCTCA	0.697																																						ENST00000378016.2																			0													SCO-spondin							31	37	35					7																	149509149		2077	4198	6275			23145				cell adhesion	extracellular space	peptidase inhibitor activity	g.chr7:149509149C>T	AK093431		7q36.1	2013-08-07	2013-08-06		ENSG00000197558	ENSG00000197558			21998	protein-coding gene	gene with protein product	"subcommissural organ spondin", "SCO protein, thrombospondin domain containing"		"SCO-spondin homolog (Bos taurus)"			8743952, 11008217	Standard	NM_198455		Approved	SCO-spondin, KIAA0543, FLJ36112	uc010lpk.3	A2VEC9	OTTHUMG00000157884		7.37:g.149509149C>T										A2VEC9	SSPO_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00625)		0	9695	+	Melanoma(164;0.165)|Ovarian(565;0.177)							Q76B61	RNA	SNP	ENST00000378016.2	37																																																																																						0.697	SSPO-202	KNOWN	basic	processed_transcript	processed_transcript				20	56	0	0	0	1	0	20	56					T	149509149	C	T	149509149	1	4	265	0	1	0	0	0	0	0	0	0	15188	681	24	3		3	SSPO	7	149509149	RNA	SNP	C	TCGA-J4-A67L-01A-11D-A30E-08	14208441	149509149	9629514	18	12419											
SDCBP	6386	broad.mit.edu	37	chr8	59490716	59490716	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gagctctgataaagcgcacaAggtgctcaaacaggcttttg	12	9	11	9	1	2	1	1	1	1	0	2	2	2	1	0	2	4	4	0	2	4	3			TCGA-J4-A67L-01A-11D-A30E-08	TCGA-J4-A67L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7657dad4-c2db-417a-a77c-4de308ef3f61	046e13f7-4c6e-4ee1-97c8-8adf4fa21c42	g.chr8:59490716A>T	ENST00000260130.4	+	6	677	c.527A>T	c.(526-528)aAg>aTg	p.K176M	SDCBP_ENST00000422546.2_Missense_Mutation_p.K175M|SDCBP_ENST00000424270.2_Missense_Mutation_p.K170M|SDCBP_ENST00000413219.2_Missense_Mutation_p.K176M|SDCBP_ENST00000523483.1_Missense_Mutation_p.K196M|SDCBP_ENST00000520168.1_Missense_Mutation_p.K117M|SDCBP_ENST00000447267.2_Missense_Mutation_p.K122M|SDCBP_ENST00000447182.2_Missense_Mutation_p.K175M	NM_001007068.1|NM_001007069.1|NM_005625.3	NP_001007069.1|NP_001007070.1|NP_005616.2	O00560	SDCB1_HUMAN	syndecan binding protein (syntenin)	176	PDZ 1. {ECO:0000255|PROSITE- ProRule:PRU00143}.				actin cytoskeleton organization (GO:0030036)|axon guidance (GO:0007411)|intracellular signal transduction (GO:0035556)|positive regulation of JNK cascade (GO:0046330)|positive regulation of phosphorylation (GO:0042327)|protein targeting to membrane (GO:0006612)|Ras protein signal transduction (GO:0007265)|substrate-dependent cell migration, cell extension (GO:0006930)|synaptic transmission (GO:0007268)	adherens junction (GO:0005912)|blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|interleukin-5 receptor complex (GO:0005895)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	cytoskeletal adaptor activity (GO:0008093)|frizzled binding (GO:0005109)|identical protein binding (GO:0042802)|interleukin-5 receptor binding (GO:0005137)|protein heterodimerization activity (GO:0046982)|protein N-terminus binding (GO:0047485)|syndecan binding (GO:0045545)			breast(1)|cervix(2)|kidney(1)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(1)	8		all_lung(136;0.0271)|Lung NSC(129;0.0351)|all_epithelial(80;0.0554)				AAAGCGCACAAGGTGCTCAAA	0.428																																						ENST00000523483.1																			0				breast(1)|cervix(2)|kidney(1)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(1)	8						c.(586-588)aAg>aTg		syndecan binding protein (syntenin)							102	89	93					8																	59490716		2203	4300	6503	SO:0001583	missense	6386				actin cytoskeleton organization|axon guidance|positive regulation of phosphorylation|protein targeting to membrane|substrate-dependent cell migration, cell extension|synaptic transmission	cytoskeleton|cytosol|endoplasmic reticulum membrane|focal adhesion|interleukin-5 receptor complex|melanosome|nucleus	cytoskeletal adaptor activity|frizzled binding|interleukin-5 receptor binding|protein heterodimerization activity|protein N-terminus binding|syndecan binding	g.chr8:59490716A>T	AF000652	CCDS6172.1, CCDS47862.1, CCDS47863.1	8q12.1	2012-12-04			ENSG00000137575	ENSG00000137575			10662	protein-coding gene	gene with protein product		602217				9391086	Standard	NM_001007067		Approved	SYCL	uc003xtq.3	O00560	OTTHUMG00000164303	ENST00000260130.4:c.527A>T	8.37:g.59490716A>T	ENSP00000260130:p.Lys176Met					SDCBP_ENST00000520168.1_Missense_Mutation_p.K117M|SDCBP_ENST00000424270.2_Missense_Mutation_p.K170M|SDCBP_ENST00000447182.2_Missense_Mutation_p.K175M|SDCBP_ENST00000447267.2_Missense_Mutation_p.K122M|SDCBP_ENST00000413219.2_Missense_Mutation_p.K176M|SDCBP_ENST00000260130.4_Missense_Mutation_p.K176M|SDCBP_ENST00000422546.2_Missense_Mutation_p.K175M	p.K196M			O00560	SDCB1_HUMAN			7	2101	+		all_lung(136;0.0271)|Lung NSC(129;0.0351)|all_epithelial(80;0.0554)	176					B2R5Q7|B4DUH3|B7ZLN2|O00173|O43391|Q14CP2	Missense_Mutation	SNP	ENST00000260130.4	37	c.587A>T	CCDS6172.1	.	.	.	.	.	.	.	.	.	.	A	28.0	4.882005	0.91740	.	.	ENSG00000137575	ENST00000260130;ENST00000422546;ENST00000447182;ENST00000413219;ENST00000424270;ENST00000523483;ENST00000520168;ENST00000447267	T;T;T;T;T;T;T;T	0.41758	1.62;1.62;1.62;1.62;1.62;0.99;1.62;1.62	5.77	5.77	0.91146	PDZ/DHR/GLGF (4);	0.000000	0.85682	D	0.000000	T	0.68384	0.2995	M	0.84585	2.705	0.80722	D	1	D;D;D;D	0.71674	0.994;0.993;0.998;0.998	D;D;D;D	0.72338	0.929;0.933;0.951;0.977	T	0.72371	-0.4314	9	.	.	.	-19.1785	16.3948	0.83586	1.0:0.0:0.0:0.0	.	117;196;170;176	B4DHN5;G5EA09;O00560-3;O00560	.;.;.;SDCB1_HUMAN	M	176;175;175;176;170;196;117;122	ENSP00000260130:K176M;ENSP00000391687:K175M;ENSP00000409288:K175M;ENSP00000411771:K176M;ENSP00000395351:K170M;ENSP00000428184:K196M;ENSP00000430730:K117M;ENSP00000397820:K122M	.	K	+	2	0	SDCBP	59653270	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.287000	0.95975	2.326000	0.78906	0.533000	0.62120	AAG		0.428	SDCBP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000378193.1	NM_005625		19	64	0	0	0	1	0	19	64					T	59490716	A	T	59490716	3	4	265	1	0	0	0	0	1	0	0	0	13955	72	3	5	545	5	SDCBP	8	59490716	Missense_Mutation	SNP	A	TCGA-J4-A67L-01A-11D-A30E-08		59490716	86873306	19	12420											
FBXL6	26233	broad.mit.edu	37	chr8	145579796	145579796	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gtgtatggcaccacttctggGtcaaaaaggggctgccctcc	8	9	12	12	0	2	0	1	0	1	0	3	0	3	0	3	4	1	3	3	4	3	2			TCGA-J4-A67L-01A-11D-A30E-08	TCGA-J4-A67L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7657dad4-c2db-417a-a77c-4de308ef3f61	046e13f7-4c6e-4ee1-97c8-8adf4fa21c42	g.chr8:145579796G>T	ENST00000331890.5	-	8	1368	c.1304C>A	c.(1303-1305)aCc>aAc	p.T435N	TMEM249_ENST00000531225.1_5'Flank|SLC52A2_ENST00000527078.1_5'Flank|SLC52A2_ENST00000329994.2_5'Flank|SLC52A2_ENST00000532887.1_5'Flank|FBXL6_ENST00000455319.2_Missense_Mutation_p.T429N|SLC52A2_ENST00000530047.1_5'Flank|TMEM249_ENST00000398633.3_5'Flank|SLC52A2_ENST00000402965.1_5'Flank|FBXL6_ENST00000526524.1_Intron|SLC52A2_ENST00000540505.1_5'Flank	NM_012162.2	NP_036294.2	Q8N531	FBXL6_HUMAN	F-box and leucine-rich repeat protein 6	435					protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)		ubiquitin-protein transferase activity (GO:0004842)			endometrium(1)|lung(3)|ovary(1)	5	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;4.43e-40)|Epithelial(56;1.48e-39)|all cancers(56;1.49e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0441)|Colorectal(110;0.055)			CCACTTCTGGGTCAAAAAGGG	0.582																																						ENST00000331890.5																			0				endometrium(1)|lung(3)|ovary(1)	5						c.(1303-1305)aCc>aAc		F-box and leucine-rich repeat protein 6							69	75	73					8																	145579796		2203	4299	6502	SO:0001583	missense	26233				proteolysis		ubiquitin-protein ligase activity	g.chr8:145579796G>T	AF174592	CCDS6422.1, CCDS47942.1	8q24.3	2011-06-09			ENSG00000182325	ENSG00000182325		"F-boxes / Leucine-rich repeats"	13603	protein-coding gene	gene with protein product		609076				10531035, 10531037	Standard	NM_012162		Approved	FBL6	uc003zcb.3	Q8N531	OTTHUMG00000165169	ENST00000331890.5:c.1304C>A	8.37:g.145579796G>T	ENSP00000330098:p.Thr435Asn					FBXL6_ENST00000526524.1_Intron|FBXL6_ENST00000455319.2_Missense_Mutation_p.T429N	p.T435N	NM_012162.2	NP_036294.1	Q8N531	FBXL6_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;4.43e-40)|Epithelial(56;1.48e-39)|all cancers(56;1.49e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0441)|Colorectal(110;0.055)		8	1368	-	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		435					Q53G43|Q9H5W9|Q9UKC7	Missense_Mutation	SNP	ENST00000331890.5	37	c.1304C>A	CCDS6422.1	.	.	.	.	.	.	.	.	.	.	G	23.9	4.472325	0.84533	.	.	ENSG00000182325	ENST00000455319;ENST00000331890	T;T	0.26957	1.74;1.7	5.13	5.13	0.70059	.	0.066042	0.64402	D	0.000017	T	0.52224	0.1721	M	0.80508	2.5	0.42132	D	0.991471	D;D	0.89917	1.0;1.0	D;D	0.74674	0.963;0.984	T	0.57608	-0.7782	10	0.62326	D	0.03	-8.3486	14.0679	0.64841	0.0:0.0:1.0:0.0	.	435;429	Q8N531;Q8N531-2	FBXL6_HUMAN;.	N	429;435	ENSP00000403873:T429N;ENSP00000330098:T435N	ENSP00000330098:T435N	T	-	2	0	FBXL6	145550604	0.998000	0.40836	0.986000	0.45419	0.798000	0.45092	3.210000	0.51129	2.361000	0.80049	0.563000	0.77884	ACC		0.582	FBXL6-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382413.1	NM_024555		4	134	1	0	0.00909568	1	0.00929341	4	134					T	145579796	G	T	145579796	3	4	265	1	0	0	0	0	1	0	0	0	5723	1261	44	5	323	5	FBXL6	8	145579796	Missense_Mutation	SNP	G	TCGA-J4-A67L-01A-11D-A30E-08	86089080	145579796	784226	20	12421											
ZFP37	7539	broad.mit.edu	37	chr9	115805634	115805634	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgtatgtgttctcacatgttCggtaagagatgagttatacc	10	15	10	6	1	1	2	1	1	1	1	3	3	1	2	1	1	1	5	1	1	4	6	rs200826735		TCGA-J4-A67L-01A-11D-A30E-08	TCGA-J4-A67L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7657dad4-c2db-417a-a77c-4de308ef3f61	046e13f7-4c6e-4ee1-97c8-8adf4fa21c42	g.chr9:115805634C>T	ENST00000374227.3	-	4	1291	c.1264G>A	c.(1264-1266)Gaa>Aaa	p.E422K	ZFP37_ENST00000553380.1_Missense_Mutation_p.E437K|ZFP37_ENST00000555206.1_Missense_Mutation_p.E423K	NM_001282515.1|NM_001282518.1	NP_001269444.1|NP_001269447.1	Q9Y6Q3	ZFP37_HUMAN	ZFP37 zinc finger protein	422					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	38						CTCACATGTTCGGTAAGAGAT	0.378																																						ENST00000374227.3																			0				NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	38						c.(1264-1266)Gaa>Aaa		ZFP37 zinc finger protein							125	119	121					9																	115805634		2203	4300	6503	SO:0001583	missense	7539					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr9:115805634C>T	AF022158	CCDS6787.1, CCDS65109.1, CCDS65110.1	9q32	2013-01-08	2012-11-27		ENSG00000136866	ENSG00000136866		"Zinc fingers, C2H2-type", "-"	12863	protein-coding gene	gene with protein product		602951	"zinc finger protein homologous to Zfp37 in mouse", "zinc finger protein 37 homolog (mouse)"				Standard	NM_001282515		Approved	ZNF906	uc004bgm.1	Q9Y6Q3	OTTHUMG00000021019	ENST00000374227.3:c.1264G>A	9.37:g.115805634C>T	ENSP00000363344:p.Glu422Lys					ZFP37_ENST00000555206.1_Missense_Mutation_p.E423K|ZFP37_ENST00000553380.1_Missense_Mutation_p.E437K	p.E422K			Q9Y6Q3	ZFP37_HUMAN			4	1291	-			422					A0AVJ9|B4DVX4|G3V3L7|Q5T7Q4	Missense_Mutation	SNP	ENST00000374227.3	37	c.1264G>A	CCDS6787.1	.	.	.	.	.	.	.	.	.	.	C	6.276	0.419001	0.11870	.	.	ENSG00000136866	ENST00000374227;ENST00000555206;ENST00000553380	T;T;T	0.08193	3.12;3.12;3.12	4.02	4.02	0.46733	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.45606	D	0.000359	T	0.02970	0.0088	N	0.02775	-0.495	0.24134	N	0.995753	D;D;P	0.61697	0.974;0.99;0.953	B;B;B	0.43082	0.317;0.407;0.319	T	0.39643	-0.9604	10	0.06365	T	0.9	-23.0622	9.3676	0.38234	0.2129:0.7871:0.0:0.0	.	423;437;422	G3V3L7;Q9Y6Q3-2;Q9Y6Q3	.;.;ZFP37_HUMAN	K	422;423;437	ENSP00000363344:E422K;ENSP00000451310:E423K;ENSP00000452552:E437K	ENSP00000363344:E422K	E	-	1	0	ZFP37	114845455	0.000000	0.05858	0.993000	0.49108	0.986000	0.74619	-0.774000	0.04684	2.528000	0.85240	0.655000	0.94253	GAA		0.378	ZFP37-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000055439.1	NM_003408		18	79	0	0	0	1	0	18	79					T	115805634	C	T	115805634	3	4	265	1	0	0	0	0	1	0	0	0	17645	893	31	2	632	2	ZFP37	9	115805634	Missense_Mutation	SNP	C	TCGA-J4-A67L-01A-11D-A30E-08		115805634	25407797	21	12422											
FAM129B	64855	broad.mit.edu	37	chr9	130286023	130286023	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtcctgctcggcttctgtcAtcatgcagaagtagtagtga	8	13	11	9	1	3	2	2	1	1	1	5	2	4	2	1	1	2	5	1	1	3	3			TCGA-J4-A67L-01A-11D-A30E-08	TCGA-J4-A67L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7657dad4-c2db-417a-a77c-4de308ef3f61	046e13f7-4c6e-4ee1-97c8-8adf4fa21c42	g.chr9:130286023A>G	ENST00000373312.3	-	5	737	c.524T>C	c.(523-525)aTg>aCg	p.M175T	FAM129B_ENST00000373314.3_Missense_Mutation_p.M162T|FAM129B_ENST00000468379.1_Intron	NM_022833.2	NP_073744.2	Q96TA1	NIBL1_HUMAN	family with sequence similarity 129, member B	175	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				negative regulation of apoptotic process (GO:0043066)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25						GGCTTCTGTCATCATGCAGAA	0.607											OREG0019507	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000373312.3																			0				breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25						c.(523-525)aTg>aCg		family with sequence similarity 129, member B							113	94	100					9																	130286023		2203	4300	6503	SO:0001583	missense	64855						protein binding	g.chr9:130286023A>G	AF151783	CCDS35144.1, CCDS35145.1	9q34.13	2010-02-01	2006-11-23	2006-11-23	ENSG00000136830	ENSG00000136830			25282	protein-coding gene	gene with protein product		614045	"chromosome 9 open reading frame 88"	C9orf88		14702039, 19362540	Standard	XM_005252135		Approved	DKFZP434H0820, FLJ13518, FLJ22151, FLJ22298, bA356B19.6, MINERVA	uc004brh.3	Q96TA1	OTTHUMG00000020705	ENST00000373312.3:c.524T>C	9.37:g.130286023A>G	ENSP00000362409:p.Met175Thr		OREG0019507	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1579	FAM129B_ENST00000468379.1_Intron|FAM129B_ENST00000373314.3_Missense_Mutation_p.M162T	p.M175T	NM_022833.2	NP_073744.2	Q96TA1	NIBL1_HUMAN			5	737	-			175			PH.		Q4LE55|Q5VVW6|Q5VVW7|Q9BUS2|Q9NT35	Missense_Mutation	SNP	ENST00000373312.3	37	c.524T>C	CCDS35145.1	.	.	.	.	.	.	.	.	.	.	A	10.63	1.403375	0.25291	.	.	ENSG00000136830	ENST00000373314;ENST00000373312	T;T	0.16196	2.36;2.36	5.24	5.24	0.73138	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	0.257141	0.42294	D	0.000735	T	0.14527	0.0351	L	0.45581	1.43	0.40977	D	0.984748	B;B	0.21452	0.056;0.056	B;B	0.27715	0.082;0.082	T	0.10683	-1.0619	10	0.14252	T	0.57	-51.6426	7.7945	0.29140	0.9075:0.0:0.0925:0.0	.	162;175	Q96TA1-2;Q96TA1	.;NIBL1_HUMAN	T	162;175	ENSP00000362411:M162T;ENSP00000362409:M175T	ENSP00000362409:M175T	M	-	2	0	FAM129B	129325844	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	2.557000	0.45871	1.983000	0.57843	0.459000	0.35465	ATG		0.607	FAM129B-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054196.1	NM_022833		26	80	0	0	0	1	0	26	80					G	130286023	A	G	130286023	3	3	265	1	0	0	0	0	1	0	0	0	5437	217	8	4	1756	4	FAM129B	9	130286023	Missense_Mutation	SNP	A	TCGA-J4-A67L-01A-11D-A30E-08	14480389	130286023	10927408	22	12423											
WDR85	92715	broad.mit.edu	37	chr9	140468754	140468754	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gccactttctgcagcctgggCctcgtctcattcaccatcag	6	11	8	16	1	4	0	3	0	2	0	6	0	4	0	4	1	2	1	4	1	0	2			TCGA-J4-A67L-01A-11D-A30E-08	TCGA-J4-A67L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7657dad4-c2db-417a-a77c-4de308ef3f61	046e13f7-4c6e-4ee1-97c8-8adf4fa21c42	g.chr9:140468754C>G	ENST00000277540.2	-	5	703	c.546G>C	c.(544-546)agG>agC	p.R182S	DPH7_ENST00000479650.1_5'UTR	NM_138778.2	NP_620133.1	Q9BTV6	DPH7_HUMAN	diphthamide biosynthesis 7	182					peptidyl-diphthamide biosynthetic process from peptidyl-histidine (GO:0017183)												GCAGCCTGGGCCTCGTCTCAT	0.542																																						ENST00000277540.2																			0											c.(544-546)agG>agC		diphthamide biosynthesis 7							131	123	126					9																	140468754		2203	4300	6503	SO:0001583	missense	92715							g.chr9:140468754C>G	AK075115	CCDS7047.1	9q34.3	2013-06-20	2013-06-20	2013-06-20	ENSG00000148399	ENSG00000148399		"WD repeat domain containing"	25199	protein-coding gene	gene with protein product		613210	"chromosome 9 open reading frame 112", "WD repeat domain 85"	C9orf112, WDR85		23486472	Standard	NM_138778		Approved	FLJ90634, RRT2	uc004cnk.1	Q9BTV6	OTTHUMG00000020991	ENST00000277540.2:c.546G>C	9.37:g.140468754C>G	ENSP00000277540:p.Arg182Ser					DPH7_ENST00000479650.1_5'UTR	p.R182S	NM_138778.2	NP_620133.1					5	703	-								Q96AB7	Missense_Mutation	SNP	ENST00000277540.2	37	c.546G>C	CCDS7047.1	.	.	.	.	.	.	.	.	.	.	C	6.783	0.513382	0.12944	.	.	ENSG00000148399	ENST00000277540	T	0.65732	-0.17	4.67	-0.00352	0.14025	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	1.561550	0.03818	N	0.266997	T	0.24661	0.0598	N	0.00583	-1.355	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.17349	-1.0372	10	0.19147	T	0.46	.	1.1977	0.01878	0.2596:0.3494:0.2196:0.1714	.	182	Q9BTV6	WDR85_HUMAN	S	182	ENSP00000277540:R182S	ENSP00000277540:R182S	R	-	3	2	WDR85	139588575	0.000000	0.05858	0.000000	0.03702	0.253000	0.25986	-0.795000	0.04580	0.338000	0.23692	0.306000	0.20318	AGG		0.542	DPH7-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055350.1	NM_138778		37	150	0	0	0	1	0	37	150					G	140468754	C	G	140468754	3	3	265	1	0	0	0	0	1	0	0	0	17330	738	26	5	832	5	WDR85	9	140468754	Missense_Mutation	SNP	C	TCGA-J4-A67L-01A-11D-A30E-08	10182731	140468754	744677	23	12424											
ARAP1	116985	broad.mit.edu	37	chr11	72403811	72403811	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tactcacggtctcaggggccCcgctccacggcctctggctc	4	8	11	18	3	3	0	2	0	2	0	6	0	4	0	4	5	1	2	4	5	1	1			TCGA-J4-A67L-01A-11D-A30E-08	TCGA-J4-A67L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7657dad4-c2db-417a-a77c-4de308ef3f61	046e13f7-4c6e-4ee1-97c8-8adf4fa21c42	g.chr11:72403811C>T	ENST00000393609.3	-	30	4176	c.3974G>A	c.(3973-3975)gGg>gAg	p.G1325E	ARAP1-AS1_ENST00000542022.1_RNA|ARAP1_ENST00000426523.1_Intron|ARAP1_ENST00000334211.8_Missense_Mutation_p.G1080E|ARAP1_ENST00000455638.2_Intron|ARAP1_ENST00000393605.3_Missense_Mutation_p.G1085E|ARAP1_ENST00000429686.1_Intron|ARAP1_ENST00000495878.1_Intron|ARAP1_ENST00000359373.5_Intron	NM_001040118.2	NP_001035207.1	Q96P48	ARAP1_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1	1325	PH 4. {ECO:0000255|PROSITE- ProRule:PRU00145}.				actin filament reorganization involved in cell cycle (GO:0030037)|negative regulation of stress fiber assembly (GO:0051497)|positive regulation of Cdc42 GTPase activity (GO:0043089)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of receptor recycling (GO:0001921)|regulation of ARF GTPase activity (GO:0032312)|regulation of cell shape (GO:0008360)|regulation of cellular component movement (GO:0051270)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|Rho GTPase activator activity (GO:0005100)|zinc ion binding (GO:0008270)			cervix(2)|endometrium(2)|large_intestine(10)|lung(8)|ovary(1)|skin(3)|urinary_tract(1)	27						CTCAGGGGCCCCGCTCCACGG	0.612																																					Ovarian(102;1198 1520 13195 17913 37529)	ENST00000393609.3																			0				cervix(2)|endometrium(2)|large_intestine(10)|lung(8)|ovary(1)|skin(3)|urinary_tract(1)	27						c.(3973-3975)gGg>gAg		ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1							51	50	51					11																	72403811		2200	4293	6493	SO:0001583	missense	116985				actin filament reorganization involved in cell cycle|negative regulation of stress fiber assembly|positive regulation of Cdc42 GTPase activity|positive regulation of filopodium assembly|regulation of ARF GTPase activity|regulation of cell shape|regulation of cellular component movement|small GTPase mediated signal transduction	cytosol|Golgi cisterna membrane|plasma membrane	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|Rho GTPase activator activity|zinc ion binding	g.chr11:72403811C>T	AF411983	CCDS8217.2, CCDS41687.1, CCDS44671.1	11q13.3	2013-01-11	2008-09-22	2008-09-22	ENSG00000186635	ENSG00000186635		"ADP-ribosylation factor GTPase activating proteins", "Sterile alpha motif (SAM) domain containing", "Pleckstrin homology (PH) domain containing", "Ankyrin repeat domain containing"	16925	protein-coding gene	gene with protein product		606646	"centaurin, delta 2"	CENTD2			Standard	NM_001040118		Approved		uc001osu.3	Q96P48	OTTHUMG00000157102	ENST00000393609.3:c.3974G>A	11.37:g.72403811C>T	ENSP00000377233:p.Gly1325Glu					ARAP1_ENST00000393605.3_Missense_Mutation_p.G1085E|ARAP1_ENST00000359373.5_Intron|ARAP1_ENST00000334211.8_Missense_Mutation_p.G1080E|ARAP1-AS1_ENST00000542022.1_RNA|ARAP1_ENST00000495878.1_Intron|ARAP1_ENST00000455638.2_Intron|ARAP1_ENST00000429686.1_Intron|ARAP1_ENST00000426523.1_Intron	p.G1325E	NM_001040118.2	NP_001035207.1	Q96P48	ARAP1_HUMAN			30	4176	-			1325			PH 4.		A3KLL7|B2RTS2|O94879|Q4LDD5|Q59FI7|Q6PHS3|Q8WU51|Q96HP6|Q96L71	Missense_Mutation	SNP	ENST00000393609.3	37	c.3974G>A	CCDS41687.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.168864	0.78339	.	.	ENSG00000186635	ENST00000393605;ENST00000334211;ENST00000393609	T;T;T	0.06933	3.28;3.33;3.24	5.73	4.82	0.62117	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.950475	0.08542	U	0.930383	T	0.09024	0.0223	N	0.08118	0	0.80722	D	1	D;D	0.59357	0.985;0.985	P;P	0.61070	0.883;0.833	T	0.15009	-1.0452	10	0.02654	T	1	.	9.6684	0.39998	0.0:0.908:0.0:0.092	.	1325;1085	Q96P48;Q96P48-1	ARAP1_HUMAN;.	E	1085;1080;1325	ENSP00000377230:G1085E;ENSP00000335506:G1080E;ENSP00000377233:G1325E	ENSP00000335506:G1080E	G	-	2	0	ARAP1	72081459	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.389000	0.34453	2.704000	0.92352	0.549000	0.68633	GGG		0.612	ARAP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000347428.1	NM_001040118		18	44	0	0	0	1	0	18	44					T	72403811	C	T	72403811	3	4	265	1	0	0	0	0	1	0	0	0	838	623	22	3	402	3	ARAP1	11	72403811	Missense_Mutation	SNP	C	TCGA-J4-A67L-01A-11D-A30E-08		72403811	62602705	24	12425											
ST8SIA1	6489	broad.mit.edu	37	chr12	22354692	22354692	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagccatagatggccacctCttcacagagacccagagctg	12	6	10	13	0	2	3	1	0	1	3	2	5	2	3	4	1	2	1	4	1	2	2	rs537133913		TCGA-J4-A67L-01A-11D-A30E-08	TCGA-J4-A67L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7657dad4-c2db-417a-a77c-4de308ef3f61	046e13f7-4c6e-4ee1-97c8-8adf4fa21c42	g.chr12:22354692C>A	ENST00000396037.4	-	5	1346	c.865G>T	c.(865-867)Gag>Tag	p.E289*	ST8SIA1_ENST00000539510.1_Nonsense_Mutation_p.E146*	NM_003034.3	NP_003025.1	Q92185	SIA8A_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 1	289					carbohydrate metabolic process (GO:0005975)|cellular response to heat (GO:0034605)|glycosphingolipid biosynthetic process (GO:0006688)|positive regulation of cell proliferation (GO:0008284)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	integral component of Golgi membrane (GO:0030173)|integral component of membrane (GO:0016021)	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity (GO:0003828)|sialyltransferase activity (GO:0008373)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	25						ATGGCCACCTCTTCACAGAGA	0.512																																						ENST00000396037.4																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	25						c.(865-867)Gag>Tag		ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 1							63	65	64					12																	22354692		2203	4300	6503	SO:0001587	stop_gained	6489				glycosphingolipid biosynthetic process|protein glycosylation	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity	g.chr12:22354692C>A	L32867	CCDS8697.1	12p12.1-p11.2	2013-03-01	2003-01-14	2005-02-07	ENSG00000111728	ENSG00000111728	2.4.99.8	"Sialyltransferases"	10869	protein-coding gene	gene with protein product	"ST8Sia I"	601123	"sialyltransferase 8 (alpha-N-acetylneuraminate: alpha-2,8-sialytransferase, GD3 synthase) A"	SIAT8, SIAT8A		7901202	Standard	NM_003034		Approved		uc001rfo.4	Q92185	OTTHUMG00000169098	ENST00000396037.4:c.865G>T	12.37:g.22354692C>A	ENSP00000379353:p.Glu289*					ST8SIA1_ENST00000539510.1_Nonsense_Mutation_p.E146*	p.E289*	NM_003034.3	NP_003025.1	Q92185	SIA8A_HUMAN			5	1346	-			289					A8K4H6|Q17RL0|Q6PZN5|Q93064	Nonsense_Mutation	SNP	ENST00000396037.4	37	c.865G>T	CCDS8697.1	.	.	.	.	.	.	.	.	.	.	C	40	8.513430	0.98843	.	.	ENSG00000111728	ENST00000396037;ENST00000539510	.	.	.	5.73	5.73	0.89815	.	0.090812	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.49607	T	0.09	-16.1461	20.2602	0.98440	0.0:1.0:0.0:0.0	.	.	.	.	X	289;146	.	ENSP00000379353:E289X	E	-	1	0	ST8SIA1	22245959	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.752000	0.85141	2.861000	0.98227	0.655000	0.94253	GAG		0.512	ST8SIA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402245.2	NM_003034		19	80	1	0	1.67942e-08	1	1.75406e-08	19	80					A	22354692	C	A	22354692	4	1	265	1	0	0	0	0	0	1	0	0	15230	922	32	5	209	5	ST8SIA1	12	22354692	Nonsense_Mutation	SNP	C	TCGA-J4-A67L-01A-11D-A30E-08		22354692	111497203	25	12426											
NRXN3	9369	broad.mit.edu	37	chr14	79434627	79434627	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcagtggacttgaatggacGcctgccagacctcatcaatg	11	9	10	11	1	3	2	3	1	0	1	3	4	3	4	3	2	1	0	3	2	2	1	rs368490229		TCGA-J4-A67L-01A-11D-A30E-08	TCGA-J4-A67L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7657dad4-c2db-417a-a77c-4de308ef3f61	046e13f7-4c6e-4ee1-97c8-8adf4fa21c42	g.chr14:79434627G>A	ENST00000554719.1	+	11	2452	c.1961G>A	c.(1960-1962)cGc>cAc	p.R654H	NRXN3_ENST00000335750.5_Missense_Mutation_p.R654H	NM_004796.4	NP_004787.2	Q9HDB5	NRX3B_HUMAN	neurexin 3	260					adult behavior (GO:0030534)|angiogenesis (GO:0001525)|learning (GO:0007612)|neuron cell-cell adhesion (GO:0007158)|neurotransmitter secretion (GO:0007269)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synapse maturation (GO:0090129)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|vocalization behavior (GO:0071625)	integral component of membrane (GO:0016021)	cell adhesion molecule binding (GO:0050839)|neuroligin family protein binding (GO:0097109)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		TTGAATGGACGCCTGCCAGAC	0.522																																						ENST00000554719.1																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104						c.(1960-1962)cGc>cAc		neurexin 3		G	HIS/ARG	0,4406		0,0,2203	135	115	121		1961	6	1	14		121	1,8599	1.2+/-3.3	0,1,4299	no	missense	NRXN3	NM_004796.4	29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	654/1062	79434627	1,13005	2203	4300	6503	SO:0001583	missense	9369				angiogenesis|cell adhesion	integral to membrane		g.chr14:79434627G>A	AB018286	CCDS9870.1, CCDS9871.1, CCDS45145.1, CCDS61515.1	14q31	2010-01-19				ENSG00000021645			8010	protein-coding gene	gene with protein product		600567	"chromosome 14 open reading frame 60"	C14orf60		11944992, 12379233	Standard	NM_004796		Approved	KIAA0743	uc001xun.4	Q9HDB5		ENST00000554719.1:c.1961G>A	14.37:g.79434627G>A	ENSP00000451648:p.Arg654His					NRXN3_ENST00000335750.5_Missense_Mutation_p.R654H	p.R654H	NM_004796.4	NP_004787.2	Q9HDB5	NRX3B_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)	11	2452	+		Renal(4;0.00876)	260					A5PKW8|A8MPU5|B3KPM7|Q6NUR0|Q8IUD8	Missense_Mutation	SNP	ENST00000554719.1	37	c.1961G>A	CCDS9870.1	.	.	.	.	.	.	.	.	.	.	G	36	5.841621	0.97016	0.0	1.16E-4	ENSG00000021645	ENST00000330071;ENST00000332068;ENST00000554719;ENST00000335750	T;T	0.76709	-1.04;-1.04	6.03	6.03	0.97812	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.000000	0.85682	D	0.000000	D	0.88987	0.6587	.	.	.	0.80722	D	1	D;D	0.89917	1.0;1.0	D;P	0.87578	0.998;0.908	D	0.87571	0.2478	8	.	.	.	.	20.5666	0.99351	0.0:0.0:1.0:0.0	.	1027;654	Q9Y4C0;Q9Y4C0-3	NRX3A_HUMAN;.	H	1027;1016;654;654	ENSP00000451648:R654H;ENSP00000338349:R654H	.	R	+	2	0	NRXN3	78504380	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.854000	0.98071	0.655000	0.94253	CGC		0.522	NRXN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413787.1	NM_001105250		20	65	0	0	0	1	0	20	65					A	79434627	G	A	79434627	3	1	265	1	0	0	0	0	1	0	0	0	10667	1087	38	1	1995	1	NRXN3	14	79434627	Missense_Mutation	SNP	G	TCGA-J4-A67L-01A-11D-A30E-08		79434627	27914913	26	12427											
AQR	9716	broad.mit.edu	37	chr15	35210531	35210531	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcagttggatacaaaggcaTctggttcaactgctgaatct	11	12	9	9	0	4	1	2	1	2	0	4	2	4	2	0	3	3	4	0	3	4	3			TCGA-J4-A67L-01A-11D-A30E-08	TCGA-J4-A67L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7657dad4-c2db-417a-a77c-4de308ef3f61	046e13f7-4c6e-4ee1-97c8-8adf4fa21c42	g.chr15:35210531T>C	ENST00000156471.5	-	15	1495	c.1270A>G	c.(1270-1272)Atg>Gtg	p.M424V		NM_014691.2	NP_055506.1	O60306	AQR_HUMAN	aquarius intron-binding spliceosomal factor	424					mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(10)|lung(18)|ovary(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	57		Lung NSC(122;8.7e-10)|all_lung(180;1.47e-08)		all cancers(64;4.34e-18)|GBM - Glioblastoma multiforme(113;4.59e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0283)		TACAAAGGCATCTGGTTCAAC	0.368																																						ENST00000156471.5																			0				breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(10)|lung(18)|ovary(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	57						c.(1270-1272)Atg>Gtg		aquarius intron-binding spliceosomal factor							104	95	98					15																	35210531		1836	4079	5915	SO:0001583	missense	9716					catalytic step 2 spliceosome	RNA binding	g.chr15:35210531T>C	AB011132	CCDS42013.1	15q13	2013-09-12	2013-09-12			ENSG00000021776			29513	protein-coding gene	gene with protein product	"functional spliceosome-associated protein 164"	610548	"aquarius homolog (mouse)"			9626505, 16949364	Standard	NM_014691		Approved	KIAA0560, fSAP164, IBP160	uc001ziv.3	O60306		ENST00000156471.5:c.1270A>G	15.37:g.35210531T>C	ENSP00000156471:p.Met424Val						p.M424V	NM_014691.2	NP_055506.1	O60306	AQR_HUMAN		all cancers(64;4.34e-18)|GBM - Glioblastoma multiforme(113;4.59e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0283)	15	1495	-		Lung NSC(122;8.7e-10)|all_lung(180;1.47e-08)	424					A0JP17|A5YKK3|Q2YDX9|Q6IRU8|Q6PIC8	Missense_Mutation	SNP	ENST00000156471.5	37	c.1270A>G	CCDS42013.1	.	.	.	.	.	.	.	.	.	.	T	17.57	3.422614	0.62622	.	.	ENSG00000021776	ENST00000156471;ENST00000543879	D	0.93366	-3.21	4.74	4.74	0.60224	.	0.072986	0.85682	D	0.000000	D	0.92437	0.7599	M	0.75777	2.31	0.52099	D	0.999947	B	0.26400	0.148	B	0.26416	0.069	D	0.91161	0.4961	10	0.46703	T	0.11	-20.2217	14.411	0.67115	0.0:0.0:0.0:1.0	.	424	O60306	AQR_HUMAN	V	424	ENSP00000156471:M424V	ENSP00000156471:M424V	M	-	1	0	AQR	32997823	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.747000	0.85070	2.002000	0.58637	0.402000	0.26972	ATG		0.368	AQR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417526.2	NM_014691		11	49	0	0	0	1	0	11	49					C	35210531	T	C	35210531	3	2	265	1	0	0	0	0	1	0	0	0	835	1435	50	4	3271	4	AQR	15	35210531	Missense_Mutation	SNP	T	TCGA-J4-A67L-01A-11D-A30E-08		35210531	67320861	27	12428											
SPPL2A	84888	broad.mit.edu	37	chr15	51028899	51028899	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aagacagttgtacagactcaTtgctgatgctatgcagaaaa	15	10	9	7	0	1	4	1	1	0	3	1	4	1	4	0	0	4	5	0	0	5	4	rs367778266		TCGA-J4-A67L-01A-11D-A30E-08	TCGA-J4-A67L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7657dad4-c2db-417a-a77c-4de308ef3f61	046e13f7-4c6e-4ee1-97c8-8adf4fa21c42	g.chr15:51028899T>C	ENST00000261854.5	-	7	1046	c.772A>G	c.(772-774)Atg>Gtg	p.M258V		NM_032802.3	NP_116191.2	Q8TCT8	SPP2A_HUMAN	signal peptide peptidase like 2A	258					membrane protein ectodomain proteolysis (GO:0006509)|membrane protein intracellular domain proteolysis (GO:0031293)|regulation of immune response (GO:0050776)	extracellular vesicular exosome (GO:0070062)|Golgi-associated vesicle membrane (GO:0030660)|integral component of cytoplasmic side of endoplasmic reticulum membrane (GO:0071458)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	aspartic-type endopeptidase activity (GO:0004190)|protein homodimerization activity (GO:0042803)			endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	15				all cancers(107;0.000712)|GBM - Glioblastoma multiforme(94;0.00314)		TACAGACTCATTGCTGATGCT	0.318																																					Melanoma(50;790 1209 4069 22965 33125)	ENST00000261854.5																			0				endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	15						c.(772-774)Atg>Gtg		signal peptide peptidase like 2A		T	VAL/MET	0,4392		0,0,2196	102	99	100		772	4.4	1	15		100	1,8583		0,1,4291	no	missense	SPPL2A	NM_032802.3	21	0,1,6487	CC,CT,TT		0.0116,0.0,0.0077	benign	258/521	51028899	1,12975	2196	4292	6488	SO:0001583	missense	84888					integral to membrane	aspartic-type endopeptidase activity	g.chr15:51028899T>C		CCDS10138.1	15q21.2	2012-02-21			ENSG00000138600	ENSG00000138600			30227	protein-coding gene	gene with protein product	"intramembrane protease 3", "presenilin-like protein 2"	608238				12077416, 12139484	Standard	NM_032802		Approved	IMP3, PSL2	uc001zyv.3	Q8TCT8	OTTHUMG00000131647	ENST00000261854.5:c.772A>G	15.37:g.51028899T>C	ENSP00000261854:p.Met258Val						p.M258V	NM_032802.3	NP_116191.2	Q8TCT8	PSL2_HUMAN		all cancers(107;0.000712)|GBM - Glioblastoma multiforme(94;0.00314)	7	1046	-			258					B2RDS0|Q8TAW1|Q96SZ8	Missense_Mutation	SNP	ENST00000261854.5	37	c.772A>G	CCDS10138.1	.	.	.	.	.	.	.	.	.	.	T	10.70	1.424445	0.25639	0.0	1.16E-4	ENSG00000138600	ENST00000261854	T	0.15603	2.41	5.57	4.45	0.53987	.	0.288277	0.40728	N	0.001030	T	0.11623	0.0283	L	0.27053	0.805	0.32272	N	0.568724	B	0.09022	0.002	B	0.11329	0.006	T	0.15407	-1.0438	10	0.15499	T	0.54	-3.1359	11.4328	0.50052	0.0:0.0706:0.0:0.9294	.	258	Q8TCT8	PSL2_HUMAN	V	258	ENSP00000261854:M258V	ENSP00000261854:M258V	M	-	1	0	AC012100.1	48816191	1.000000	0.71417	0.998000	0.56505	0.999000	0.98932	1.694000	0.37752	1.056000	0.40484	0.533000	0.62120	ATG		0.318	SPPL2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254543.3	NM_032802		4	49	0	0	0	1	0	4	49					C	51028899	T	C	51028899	3	2	265	1	0	0	0	0	1	0	0	0	15087	1493	52	4	826	4	SPPL2A	15	51028899	Missense_Mutation	SNP	T	TCGA-J4-A67L-01A-11D-A30E-08	15818368	51028899	51502493	28	12429											
METRN	79006	broad.mit.edu	37	chr16	767073	767073	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccacatgcctccccacagtaAttcacgggatcatccatggg	10	8	8	15	1	2	0	2	0	0	0	4	1	4	1	5	2	1	1	5	2	1	2			TCGA-J4-A67L-01A-11D-A30E-08	TCGA-J4-A67L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7657dad4-c2db-417a-a77c-4de308ef3f61	046e13f7-4c6e-4ee1-97c8-8adf4fa21c42	g.chr16:767073A>G	ENST00000568223.2	+	4	743	c.568A>G	c.(568-570)Att>Gtt	p.I190V	METRN_ENST00000568415.1_Missense_Mutation_p.I57V	NM_024042.2	NP_076947.1	Q9UJH8	METRN_HUMAN	meteorin, glial cell differentiation regulator	190					glial cell differentiation (GO:0010001)|positive regulation of axonogenesis (GO:0050772)	extracellular space (GO:0005615)				skin(1)	1		Hepatocellular(780;0.00335)				CCCCACAGTAATTCACGGGAT	0.642																																						ENST00000568223.2																			0				skin(1)	1						c.(568-570)Att>Gtt		meteorin, glial cell differentiation regulator							38	45	42					16																	767073		2198	4294	6492	SO:0001583	missense	79006							g.chr16:767073A>G	BC000662	CCDS10422.1	16p13.3	2008-02-05	2004-11-26	2004-12-01	ENSG00000103260	ENSG00000103260			14151	protein-coding gene	gene with protein product		610998	"chromosome 16 open reading frame 23"	C16orf23		15085178	Standard	NM_024042		Approved	MGC2601	uc002cjd.3	Q9UJH8	OTTHUMG00000047851	ENST00000568223.2:c.568A>G	16.37:g.767073A>G	ENSP00000455068:p.Ile190Val					METRN_ENST00000568415.1_Missense_Mutation_p.I57V	p.I190V	NM_024042.2	NP_076947.1	Q9UJH8	METRN_HUMAN			4	743	+		Hepatocellular(780;0.00335)	190					Q9UJH9	Missense_Mutation	SNP	ENST00000568223.2	37	c.568A>G	CCDS10422.1	.	.	.	.	.	.	.	.	.	.	A	1.793	-0.479106	0.04383	.	.	ENSG00000103260	ENST00000219542	.	.	.	4.47	0.679	0.17975	.	0.146689	0.44483	D	0.000441	T	0.20007	0.0481	N	0.05031	-0.125	0.44168	D	0.996977	B	0.02656	0.0	B	0.06405	0.002	T	0.23940	-1.0174	9	0.02654	T	1	-6.9633	4.3557	0.11178	0.58:0.1707:0.2493:0.0	.	190	Q9UJH8	METRN_HUMAN	V	190	.	ENSP00000219542:I190V	I	+	1	0	METRN	707074	0.885000	0.30320	0.059000	0.19551	0.021000	0.10359	1.333000	0.33816	0.666000	0.31087	0.456000	0.33151	ATT		0.642	METRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109074.4	NM_024042		19	31	0	0	0	1	0	19	31					G	767073	A	G	767073	3	3	265	1	0	0	0	0	1	0	0	0	9488	101	4	4	582	4	METRN	16	767073	Missense_Mutation	SNP	A	TCGA-J4-A67L-01A-11D-A30E-08		767073	89587680	29	12430											
RBBP6	5930	broad.mit.edu	37	chr16	24567694	24567694	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	attcccagaagtttcatgatGgaagtgaaagatcctaatat	15	12	8	6	0	1	4	1	2	0	2	3	5	3	5	2	1	0	1	2	1	5	4			TCGA-J4-A67L-01A-11D-A30E-08	TCGA-J4-A67L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7657dad4-c2db-417a-a77c-4de308ef3f61	046e13f7-4c6e-4ee1-97c8-8adf4fa21c42	g.chr16:24567694G>C	ENST00000319715.4	+	7	1032	c.600G>C	c.(598-600)atG>atC	p.M200I	RBBP6_ENST00000348022.2_Missense_Mutation_p.M200I|RBBP6_ENST00000381039.3_Missense_Mutation_p.M200I	NM_006910.4	NP_008841.2	Q7Z6E9	RBBP6_HUMAN	retinoblastoma binding protein 6	200					embryonic organ development (GO:0048568)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|somite development (GO:0061053)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(1)	46				GBM - Glioblastoma multiforme(48;0.0518)		GTTTCATGATGGAAGTGAAAG	0.378																																						ENST00000319715.4																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(1)	46						c.(598-600)atG>atC		retinoblastoma binding protein 6							100	93	95					16																	24567694		2197	4300	6497	SO:0001583	missense	5930				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	chromosome|nucleolus|ubiquitin ligase complex	nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr16:24567694G>C		CCDS10621.1, CCDS10622.1, CCDS45444.1	16p12.2	2008-08-04	2001-11-28		ENSG00000122257	ENSG00000122257			9889	protein-coding gene	gene with protein product	"proliferation potential-related protein"	600938	"retinoblastoma-binding protein 6"			8595913, 16396680	Standard	NM_006910		Approved	P2P-R, PACT, SNAMA	uc002dmh.3	Q7Z6E9	OTTHUMG00000096991	ENST00000319715.4:c.600G>C	16.37:g.24567694G>C	ENSP00000317872:p.Met200Ile					RBBP6_ENST00000381039.3_Missense_Mutation_p.M200I|RBBP6_ENST00000348022.2_Missense_Mutation_p.M200I	p.M200I	NM_006910.4	NP_008841.2	Q7Z6E9	RBBP6_HUMAN		GBM - Glioblastoma multiforme(48;0.0518)	7	1032	+			200					Q147T5|Q15290|Q6DKH4|Q6P4C2|Q6YNC9|Q7Z6E8|Q8N0V2|Q96PH3|Q9H3I8|Q9H5M5|Q9NPX4	Missense_Mutation	SNP	ENST00000319715.4	37	c.600G>C	CCDS10621.1	.	.	.	.	.	.	.	.	.	.	G	15.32	2.797406	0.50208	.	.	ENSG00000122257	ENST00000381039;ENST00000319715;ENST00000348022	T;T;T	0.17054	2.3;2.54;2.56	5.68	5.68	0.88126	.	0.050052	0.85682	D	0.000000	T	0.12987	0.0315	N	0.19112	0.55	0.39901	D	0.973896	B;B;B	0.33288	0.406;0.27;0.176	B;B;B	0.32022	0.139;0.054;0.025	T	0.08785	-1.0705	10	0.44086	T	0.13	-17.0301	15.6193	0.76793	0.0:0.1368:0.8631:0.0	.	200;200;200	Q7Z6E9-4;Q7Z6E9-2;Q7Z6E9	.;.;RBBP6_HUMAN	I	200	ENSP00000370427:M200I;ENSP00000317872:M200I;ENSP00000316291:M200I	ENSP00000317872:M200I	M	+	3	0	RBBP6	24475195	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.170000	0.50816	2.838000	0.97847	0.591000	0.81541	ATG		0.378	RBBP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214067.2	NM_006910		14	66	0	0	0	1	0	14	66					C	24567694	G	C	24567694	3	2	265	1	0	0	0	0	1	0	0	0	13103	1348	47	5	680	5	RBBP6	16	24567694	Missense_Mutation	SNP	G	TCGA-J4-A67L-01A-11D-A30E-08	23800621	24567694	65787059	30	12431											
GTF3C1	2975	broad.mit.edu	37	chr16	27481507	27481507	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctgacatccacagaaatgAggcccagagagaagagggtc	14	5	12	10	0	0	6	0	2	0	4	3	7	2	6	3	2	0	0	3	2	2	0			TCGA-J4-A67L-01A-11D-A30E-08	TCGA-J4-A67L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7657dad4-c2db-417a-a77c-4de308ef3f61	046e13f7-4c6e-4ee1-97c8-8adf4fa21c42	g.chr16:27481507A>G	ENST00000356183.4	-	31	4751	c.4736T>C	c.(4735-4737)cTc>cCc	p.L1579P	GTF3C1_ENST00000561623.1_Missense_Mutation_p.L1579P	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide 1, alpha 220kDa	1579					5S class rRNA transcription from RNA polymerase III type 1 promoter (GO:0042791)|gene expression (GO:0010467)|rRNA transcription (GO:0009303)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)|tRNA transcription (GO:0009304)|tRNA transcription from RNA polymerase III promoter (GO:0042797)	membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|transcription factor TFIIIC complex (GO:0000127)	DNA binding (GO:0003677)			breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						CACAGAAATGAGGCCCAGAGA	0.542																																						ENST00000356183.4																			0				breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						c.(4735-4737)cTc>cCc		general transcription factor IIIC, polypeptide 1, alpha 220kDa							137	127	130					16																	27481507		2197	4300	6497	SO:0001583	missense	2975					transcription factor TFIIIC complex	DNA binding|protein binding	g.chr16:27481507A>G	U06485	CCDS32414.1, CCDS66988.1	16p12	2010-03-23	2002-08-29			ENSG00000077235		"General transcription factors"	4664	protein-coding gene	gene with protein product		603246	"general transcription factor IIIC, polypeptide 1 (alpha subunit, 220kD )"			8164661, 8127861	Standard	NM_001520		Approved	TFIIIC220	uc002dov.2	Q12789		ENST00000356183.4:c.4736T>C	16.37:g.27481507A>G	ENSP00000348510:p.Leu1579Pro					GTF3C1_ENST00000561623.1_Missense_Mutation_p.L1579P	p.L1579P	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN			31	4751	-			1579					B2RP21|Q12838|Q6DKN9|Q9Y4W9	Missense_Mutation	SNP	ENST00000356183.4	37	c.4736T>C	CCDS32414.1	.	.	.	.	.	.	.	.	.	.	A	14.94	2.683922	0.47991	.	.	ENSG00000077235	ENST00000356183;ENST00000388971	T	0.27890	1.64	5.57	5.57	0.84162	.	0.067735	0.64402	D	0.000013	T	0.55955	0.1953	M	0.73962	2.25	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.985;0.999	T	0.56481	-0.7972	10	0.42905	T	0.14	-19.5898	15.4082	0.74897	1.0:0.0:0.0:0.0	.	1579;1579	Q12789;Q12789-3	TF3C1_HUMAN;.	P	1579;1575	ENSP00000348510:L1579P	ENSP00000348510:L1579P	L	-	2	0	GTF3C1	27389008	1.000000	0.71417	0.911000	0.35937	0.103000	0.19146	6.491000	0.73649	2.116000	0.64780	0.482000	0.46254	CTC		0.542	GTF3C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433856.1	NM_001520		5	219	0	0	0	1	0	5	219					G	27481507	A	G	27481507	3	3	265	1	0	0	0	0	1	0	0	0	6872	304	11	4	1621	4	GTF3C1	16	27481507	Missense_Mutation	SNP	A	TCGA-J4-A67L-01A-11D-A30E-08	2913813	27481507	62873246	31	12432											
ATP2A1	487	broad.mit.edu	37	chr16	28900188	28900188	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	atgccattgtaagaagcttgCcctccgtagagaccctgggc	9	9	11	12	1	0	2	0	0	0	2	1	3	1	2	4	1	3	3	4	1	3	4			TCGA-J4-A67L-01A-11D-A30E-08	TCGA-J4-A67L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7657dad4-c2db-417a-a77c-4de308ef3f61	046e13f7-4c6e-4ee1-97c8-8adf4fa21c42	g.chr16:28900188C>T	ENST00000357084.3	+	9	1276	c.1009C>T	c.(1009-1011)Ccc>Tcc	p.P337S	ATP2A1_ENST00000536376.1_Missense_Mutation_p.P212S|ATP2A1_ENST00000395503.4_Missense_Mutation_p.P337S	NM_173201.3	NP_775293.1	O14983	AT2A1_HUMAN	ATPase, Ca++ transporting, cardiac muscle, fast twitch 1	337					apoptotic mitochondrial changes (GO:0008637)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|ion transmembrane transport (GO:0034220)|maintenance of mitochondrion location (GO:0051659)|negative regulation of endoplasmic reticulum calcium ion concentration (GO:0032471)|negative regulation of striated muscle contraction (GO:0045988)|positive regulation of endoplasmic reticulum calcium ion concentration (GO:0032470)|positive regulation of fast-twitch skeletal muscle fiber contraction (GO:0031448)|positive regulation of mitochondrial calcium ion concentration (GO:0051561)|regulation of striated muscle contraction (GO:0006942)|relaxation of skeletal muscle (GO:0090076)|response to endoplasmic reticulum stress (GO:0034976)|transmembrane transport (GO:0055085)	calcium channel complex (GO:0034704)|endoplasmic reticulum membrane (GO:0005789)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|H zone (GO:0031673)|I band (GO:0031674)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|platelet dense tubular network membrane (GO:0031095)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calcium-transporting ATPase activity (GO:0005388)|protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	38						AAGAAGCTTGCCCTCCGTAGA	0.587																																						ENST00000395503.4																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	38						c.(1009-1011)Ccc>Tcc		ATPase, Ca++ transporting, cardiac muscle, fast twitch 1							204	176	186					16																	28900188		2197	4300	6497	SO:0001583	missense	487				apoptosis in response to endoplasmic reticulum stress|apoptotic mitochondrial changes|ATP biosynthetic process|calcium ion import|elevation of endoplasmic reticulum calcium ion concentration|elevation of mitochondrial calcium ion concentration|maintenance of mitochondrion location|negative regulation of striated muscle contraction|platelet activation|positive regulation of fast-twitch skeletal muscle fiber contraction|reduction of endoplasmic reticulum calcium ion concentration|relaxation of skeletal muscle|response to endoplasmic reticulum stress	endoplasmic reticulum membrane|ER-Golgi intermediate compartment|H zone|I band|microsome|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum|sarcoplasmic reticulum membrane	ATP binding|calcium ion binding|calcium-transporting ATPase activity|protein homodimerization activity	g.chr16:28900188C>T		CCDS10643.1, CCDS42139.1, CCDS66997.1	16p12.1	2012-10-22			ENSG00000196296	ENSG00000196296	3.6.3.8	"ATPases / P-type"	811	protein-coding gene	gene with protein product	"sarcoplasmic/endoplasmic reticulum calcium ATPase 1", "calcium pump 1"	108730		ATP2A			Standard	NM_004320		Approved	SERCA1	uc002dro.1	O14983	OTTHUMG00000131760	ENST00000357084.3:c.1009C>T	16.37:g.28900188C>T	ENSP00000349595:p.Pro337Ser					ATP2A1_ENST00000357084.3_Missense_Mutation_p.P337S|ATP2A1_ENST00000536376.1_Missense_Mutation_p.P212S	p.P337S	NM_004320.4	NP_004311.1	O14983	AT2A1_HUMAN			9	1193	+			337					A8K5J9|B3KY17|O14984	Missense_Mutation	SNP	ENST00000357084.3	37	c.1009C>T	CCDS10643.1	.	.	.	.	.	.	.	.	.	.	C	32	5.125458	0.94429	.	.	ENSG00000196296	ENST00000357084;ENST00000395503;ENST00000395498;ENST00000536376	D;D;D	0.88354	-2.37;-2.37;-2.27	5.55	5.55	0.83447	ATPase, P-type, ATPase-associated domain (1);	0.000000	0.85682	D	0.000000	D	0.92234	0.7537	L	0.42581	1.335	0.80722	D	1	D;P;P	0.71674	0.998;0.814;0.906	D;P;P	0.68621	0.959;0.583;0.567	D	0.92796	0.6252	10	0.72032	D	0.01	.	18.2637	0.90044	0.0:1.0:0.0:0.0	.	212;337;337	B3KY17;O14983;O14983-2	.;AT2A1_HUMAN;.	S	337;337;374;212	ENSP00000349595:P337S;ENSP00000378879:P337S;ENSP00000443101:P212S	ENSP00000349595:P337S	P	+	1	0	ATP2A1	28807689	1.000000	0.71417	0.999000	0.59377	0.847000	0.48162	7.794000	0.85869	2.603000	0.88011	0.563000	0.77884	CCC		0.587	ATP2A1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254686.2	NM_004320		5	302	0	0	0	1	0	5	302					T	28900188	C	T	28900188	3	4	265	1	0	0	0	0	1	0	0	0	1136	739	26	3	1043	3	ATP2A1	16	28900188	Missense_Mutation	SNP	C	TCGA-J4-A67L-01A-11D-A30E-08	1418681	28900188	61454565	32	12433											
ZC3H18	124245	broad.mit.edu	37	chr16	88688650	88688650	+	Silent	SNP	G	G	C																															gaggctgccaccacggggccGcaggtgaagagagcagatga																								rs370135967		TCGA-J4-A67L-01A-11D-A30E-08	TCGA-J4-A67L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7657dad4-c2db-417a-a77c-4de308ef3f61	046e13f7-4c6e-4ee1-97c8-8adf4fa21c42	g.chr16:88688650G>C	ENST00000301011.5	+	9	1721	c.1521G>C	c.(1519-1521)ccG>ccC	p.P507P	ZC3H18_ENST00000452588.2_Silent_p.P531P	NM_144604.3	NP_653205.3	Q86VM9	ZCH18_HUMAN	zinc finger CCCH-type containing 18	507						nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(9)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	42				BRCA - Breast invasive adenocarcinoma(80;0.0542)		CCACGGGGCCGCAGGTGAAGA	0.602																																					Ovarian(121;375 2276 20373 38669)	ENST00000301011.5																			0				endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(9)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	42						c.(1519-1521)ccG>ccC		zinc finger CCCH-type containing 18							50	52	52					16																	88688650		2198	4300	6498	SO:0001819	synonymous_variant	124245					nucleus	nucleic acid binding|zinc ion binding	g.chr16:88688650G>C	BC001584	CCDS10967.1, CCDS73924.1	16q24.2-q24.3	2012-07-05			ENSG00000158545	ENSG00000158545		"Zinc fingers, CCCH-type domain containing"	25091	protein-coding gene	gene with protein product						17579712	Standard	NM_144604		Approved	NHN1	uc002fky.3	Q86VM9	OTTHUMG00000137679	ENST00000301011.5:c.1521G>C	16.37:g.88688650G>C						ZC3H18_ENST00000452588.2_Silent_p.P531P	p.P507P	NM_144604.3	NP_653205.3	Q86VM9	ZCH18_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0542)	9	1721	+			507					Q96DG4|Q96MP7	Silent	SNP	ENST00000301011.5	37	c.1521G>C	CCDS10967.1	.	.	.	.	.	.	.	.	.	.	G	2.043	-0.419600	0.04734	.	.	ENSG00000158545	ENST00000545404	.	.	.	5.64	-11.3	0.00108	.	.	.	.	.	T	0.39545	0.1082	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.53858	-0.8379	4	.	.	.	-20.3562	3.7808	0.08680	0.3389:0.2888:0.2899:0.0825	.	.	.	.	P	331	.	.	R	+	2	0	ZC3H18	87216151	0.000000	0.05858	0.119000	0.21687	0.358000	0.29455	-4.480000	0.00227	-4.082000	0.00075	-0.812000	0.03155	CGC		0.602	ZC3H18-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000269168.1	NM_144604		5	28	0	0	0	1	0	5	28					C	88688650	G	C	88688650	2	2	265	1	0	0	0	0	0	0	0	1	17565	1074	38	5		5	ZC3H18	16	88688650	Silent	SNP	G	TCGA-J4-A67L-01A-11D-A30E-08	59788462	88688650	1666103	33	12434	65	2									
ZC3H18	124245	broad.mit.edu	37	chr16	88688651	88688651	+	Nonsense_Mutation	SNP	C	C	T																															aggctgccaccacggggccgCaggtgaagagagcagatgag																										TCGA-J4-A67L-01A-11D-A30E-08	TCGA-J4-A67L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7657dad4-c2db-417a-a77c-4de308ef3f61	046e13f7-4c6e-4ee1-97c8-8adf4fa21c42	g.chr16:88688651C>T	ENST00000301011.5	+	9	1722	c.1522C>T	c.(1522-1524)Cag>Tag	p.Q508*	ZC3H18_ENST00000452588.2_Nonsense_Mutation_p.Q532*	NM_144604.3	NP_653205.3	Q86VM9	ZCH18_HUMAN	zinc finger CCCH-type containing 18	508						nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(9)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	42				BRCA - Breast invasive adenocarcinoma(80;0.0542)		CACGGGGCCGCAGGTGAAGAG	0.602																																					Ovarian(121;375 2276 20373 38669)	ENST00000301011.5																			0				endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(9)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	42						c.(1522-1524)Cag>Tag		zinc finger CCCH-type containing 18							51	53	52					16																	88688651		2198	4300	6498	SO:0001587	stop_gained	124245					nucleus	nucleic acid binding|zinc ion binding	g.chr16:88688651C>T	BC001584	CCDS10967.1, CCDS73924.1	16q24.2-q24.3	2012-07-05			ENSG00000158545	ENSG00000158545		"Zinc fingers, CCCH-type domain containing"	25091	protein-coding gene	gene with protein product						17579712	Standard	NM_144604		Approved	NHN1	uc002fky.3	Q86VM9	OTTHUMG00000137679	ENST00000301011.5:c.1522C>T	16.37:g.88688651C>T	ENSP00000301011:p.Gln508*					ZC3H18_ENST00000452588.2_Nonsense_Mutation_p.Q532*	p.Q508*	NM_144604.3	NP_653205.3	Q86VM9	ZCH18_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0542)	9	1722	+			508					Q96DG4|Q96MP7	Nonsense_Mutation	SNP	ENST00000301011.5	37	c.1522C>T	CCDS10967.1	.	.	.	.	.	.	.	.	.	.	C	37	6.555420	0.97658	.	.	ENSG00000158545	ENST00000301011;ENST00000289509;ENST00000452588	.	.	.	5.64	5.64	0.86602	.	0.130023	0.53938	D	0.000058	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.18276	T	0.48	-37.6005	19.3118	0.94189	0.0:1.0:0.0:0.0	.	.	.	.	X	508;476;532	.	ENSP00000289509:Q476X	Q	+	1	0	ZC3H18	87216152	0.998000	0.40836	0.964000	0.40570	0.415000	0.31203	4.911000	0.63328	2.667000	0.90743	0.655000	0.94253	CAG		0.602	ZC3H18-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000269168.1	NM_144604		5	28	0	0	0	1	0	5	28					T	88688651	C	T	88688651	4	4	265	1	0	0	0	0	0	1	0	0	17565	711	25	3	1552	3	ZC3H18	16	88688651	Nonsense_Mutation	SNP	C	TCGA-J4-A67L-01A-11D-A30E-08	1	88688651	1666102	34	12435	65	2									
TP53	7157	broad.mit.edu	37	chr17	7577536	7577536	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgatggtgaggatgggccTccggttcatgccgcccatgc	6	9	15	11	2	1	2	1	2	0	0	2	4	2	3	4	4	2	1	4	4	0	1	rs587782082		TCGA-J4-A67L-01A-11D-A30E-08	TCGA-J4-A67L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7657dad4-c2db-417a-a77c-4de308ef3f61	046e13f7-4c6e-4ee1-97c8-8adf4fa21c42	g.chr17:7577536T>C	ENST00000269305.4	-	7	934	c.745A>G	c.(745-747)Agg>Ggg	p.R249G	TP53_ENST00000445888.2_Missense_Mutation_p.R249G|TP53_ENST00000413465.2_Missense_Mutation_p.R249G|TP53_ENST00000455263.2_Missense_Mutation_p.R249G|TP53_ENST00000420246.2_Missense_Mutation_p.R249G|TP53_ENST00000359597.4_Missense_Mutation_p.R249G|TP53_ENST00000574684.1_5'Flank	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	249	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		R -> G (in sporadic cancers; somatic mutation).|R -> I (in a sporadic cancer; somatic mutation).|R -> K (in sporadic cancers; somatic mutation).|R -> M (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:17224074}.|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> S (in sporadic cancers; somatic mutation; does not induce SNAI1 degradation; dbSNP:rs28934571). {ECO:0000269|PubMed:1694291, ECO:0000269|PubMed:16959974}.|R -> T (in sporadic cancers; somatic mutation).|R -> W (in sporadic cancers; somatic mutation).|RP -> SA (in a sporadic cancer; somatic mutation).|RP -> SS (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R249W(37)|p.R249G(30)|p.0?(8)|p.?(5)|p.M246_P250delMNRRP(2)|p.R249R(1)|p.R248_P250delRRP(1)|p.R249_P250delRP(1)|p.N247_R248delNR(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R249fs*96(1)|p.G245fs*14(1)|p.R249fs*15(1)|p.R249fs*14(1)|p.R249_T256delRPILTIIT(1)|p.R249fs*19(1)|p.R249_I251delRPI(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	AGGATGGGCCTCCGGTTCATG	0.567		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"Mis, N, F"	tumor protein p53			"L, E, M, O"		"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"	"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"		95	Substitution - Missense(67)|Deletion - In frame(9)|Whole gene deletion(8)|Unknown(5)|Deletion - Frameshift(3)|Insertion - Frameshift(2)|Substitution - coding silent(1)	p.R249W(37)|p.R249G(30)|p.0?(8)|p.?(5)|p.M246_P250delMNRRP(2)|p.R249R(1)|p.R248_P250delRRP(1)|p.R249_P250delRP(1)|p.N247_R248delNR(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R249fs*96(1)|p.G245fs*14(1)|p.R249fs*15(1)|p.R249fs*14(1)|p.R249_T256delRPILTIIT(1)|p.R249fs*19(1)|p.R249_I251delRPI(1)	lung(22)|upper_aerodigestive_tract(10)|urinary_tract(9)|large_intestine(7)|breast(7)|central_nervous_system(5)|biliary_tract(5)|oesophagus(5)|haematopoietic_and_lymphoid_tissue(4)|bone(4)|stomach(3)|endometrium(3)|ovary(3)|soft_tissue(2)|skin(2)|peritoneum(1)|small_intestine(1)|pancreas(1)|liver(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185						c.(745-747)Agg>Ggg	Other conserved DNA damage response genes	tumor protein p53							153	113	126					17																	7577536		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577536T>C	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"Li-Fraumeni syndrome"	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.745A>G	17.37:g.7577536T>C	ENSP00000269305:p.Arg249Gly	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_ENST00000359597.4_Missense_Mutation_p.R249G|TP53_ENST00000455263.2_Missense_Mutation_p.R249G|TP53_ENST00000413465.2_Missense_Mutation_p.R249G|TP53_ENST00000445888.2_Missense_Mutation_p.R249G|TP53_ENST00000269305.4_Missense_Mutation_p.R249G	p.R249G	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	7	877	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	249		R -> G (in sporadic cancers; somatic mutation).|R -> I (in a sporadic cancer; somatic mutation).|R -> K (in sporadic cancers; somatic mutation).|R -> M (in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> S (in sporadic cancers; somatic mutation; dbSNP:rs28934571).|R -> T (in sporadic cancers; somatic mutation).|R -> W (in sporadic cancers; somatic mutation).|RP -> SA (in a sporadic cancer; somatic mutation).|RP -> SS (in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.745A>G	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	T	17.88	3.496716	0.64186	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D;D	0.99867	-7.31;-7.31;-7.31;-7.31;-7.31;-7.31;-7.31	4.62	-0.0234	0.13943	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99854	0.9932	M	0.92367	3.3	0.48185	D	0.9996	D;D;D;D;D	0.89917	0.998;1.0;0.998;0.995;0.999	D;D;D;D;D	0.81914	0.976;0.995;0.99;0.967;0.988	D	0.97987	1.0352	10	0.87932	D	0	-3.0658	12.7443	0.57273	0.0:0.0:0.4175:0.5825	.	249;249;249;249;249	P04637-2;P04637-3;P04637;Q1MSW8;E7EQX7	.;.;P53_HUMAN;.;.	G	249;249;249;249;249;249;238;117	ENSP00000410739:R249G;ENSP00000352610:R249G;ENSP00000269305:R249G;ENSP00000398846:R249G;ENSP00000391127:R249G;ENSP00000391478:R249G;ENSP00000425104:R117G	ENSP00000269305:R249G	R	-	1	2	TP53	7518261	0.009000	0.17119	0.995000	0.50966	0.814000	0.46013	0.039000	0.13884	-0.029000	0.13827	-0.648000	0.03929	AGG		0.567	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		16	54	0	0	0	1	0	16	54					C	7577536	T	C	7577536	3	2	265	1	0	0	0	0	1	0	0	0	16378	1550	54	4	545	4	TP53	17	7577536	Missense_Mutation	SNP	T	TCGA-J4-A67L-01A-11D-A30E-08		7577536	73617674	35	12436											
HELZ	9931	broad.mit.edu	37	chr17	65174992	65174992	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cttagaggaagaatcccaacGtttagctgtggttactagct	11	12	10	8	1	0	2	0	0	0	2	1	3	1	3	1	2	4	4	1	2	7	5			TCGA-J4-A67L-01A-11D-A30E-08	TCGA-J4-A67L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7657dad4-c2db-417a-a77c-4de308ef3f61	046e13f7-4c6e-4ee1-97c8-8adf4fa21c42	g.chr17:65174992G>A	ENST00000358691.5	-	13	1379	c.1213C>T	c.(1213-1215)Cgt>Tgt	p.R405C	HELZ_ENST00000580168.1_Missense_Mutation_p.R405C	NM_014877.3	NP_055692	P42694	HELZ_HUMAN	helicase with zinc finger	405						membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(5)|endometrium(9)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13)					GAATCCCAACGTTTAGCTGTG	0.348																																						ENST00000358691.5																			0				NS(1)|breast(5)|endometrium(9)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						c.(1213-1215)Cgt>Tgt		helicase with zinc finger							102	100	100					17																	65174992		1833	4086	5919	SO:0001583	missense	9931							g.chr17:65174992G>A	D29677	CCDS42374.1	17q24.2	2013-01-18			ENSG00000198265	ENSG00000198265		"Zinc fingers, CCCH-type domain containing"	16878	protein-coding gene	gene with protein product	"down-regulated in human cancers"	606699				10471385, 12691822	Standard	NM_014877		Approved	KIAA0054, HUMORF5, DHRC	uc002jfx.4	P42694	OTTHUMG00000179555	ENST00000358691.5:c.1213C>T	17.37:g.65174992G>A	ENSP00000351524:p.Arg405Cys					HELZ_ENST00000580168.1_Missense_Mutation_p.R405C	p.R405C	NM_014877.3	NP_055692.2					13	1379	-	all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13)							I6L9H4	Missense_Mutation	SNP	ENST00000358691.5	37	c.1213C>T	CCDS42374.1	.	.	.	.	.	.	.	.	.	.	G	16.62	3.174026	0.57692	.	.	ENSG00000198265	ENST00000358691;ENST00000417253	D;T	0.86030	-2.06;1.1	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	D	0.90273	0.6958	L	0.44542	1.39	0.80722	D	1	D;P	0.89917	1.0;0.953	D;P	0.73380	0.98;0.475	D	0.89300	0.3625	10	0.52906	T	0.07	-16.4745	20.6525	0.99598	0.0:0.0:1.0:0.0	.	405;405	B7ZLW2;P42694	.;HELZ_HUMAN	C	405	ENSP00000351524:R405C;ENSP00000411144:R405C	ENSP00000351524:R405C	R	-	1	0	HELZ	62605454	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.342000	0.97044	2.890000	0.99128	0.585000	0.79938	CGT		0.348	HELZ-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000447068.1	NM_014877		13	92	0	0	0	1	0	13	92					A	65174992	G	A	65174992	3	1	265	1	0	0	0	0	1	0	0	0	7049	1145	40	1	4699	1	HELZ	17	65174992	Missense_Mutation	SNP	G	TCGA-J4-A67L-01A-11D-A30E-08	57597456	65174992	16020218	36	12437											
CDH2	1000	broad.mit.edu	37	chr18	25565628	25565628	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaattggggtctggagtttcGcaagtctctgcctcttgagg	6	13	14	8	1	3	1	0	1	3	0	5	3	3	2	1	4	1	2	1	4	2	3			TCGA-J4-A67L-01A-11D-A30E-08	TCGA-J4-A67L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7657dad4-c2db-417a-a77c-4de308ef3f61	046e13f7-4c6e-4ee1-97c8-8adf4fa21c42	g.chr18:25565628G>A	ENST00000269141.3	-	12	2262	c.1839C>T	c.(1837-1839)tgC>tgT	p.C613C	CDH2_ENST00000399380.3_Silent_p.C582C	NM_001792.3	NP_001783.2	P19022	CADH2_HUMAN	cadherin 2, type 1, N-cadherin (neuronal)	613	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|blood vessel morphogenesis (GO:0048514)|calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell migration (GO:0016477)|cell-cell adhesion mediated by cadherin (GO:0044331)|cell-cell junction organization (GO:0045216)|glial cell differentiation (GO:0010001)|heterophilic cell-cell adhesion (GO:0007157)|homophilic cell adhesion (GO:0007156)|muscle cell differentiation (GO:0042692)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|neuronal stem cell maintenance (GO:0097150)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of muscle cell differentiation (GO:0051149)|striated muscle cell differentiation (GO:0051146)	apical plasma membrane (GO:0016324)|catenin complex (GO:0016342)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|synapse (GO:0045202)	alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)|gamma-catenin binding (GO:0045295)			NS(1)|breast(5)|cervix(2)|endometrium(7)|kidney(3)|large_intestine(22)|lung(32)|ovary(4)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						CTGGAGTTTCGCAAGTCTCTG	0.408																																						ENST00000269141.3																			0				NS(1)|breast(5)|cervix(2)|endometrium(7)|kidney(3)|large_intestine(22)|lung(32)|ovary(4)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						c.(1837-1839)tgC>tgT		cadherin 2, type 1, N-cadherin (neuronal)							100	101	101					18																	25565628		2203	4300	6503	SO:0001819	synonymous_variant	1000				adherens junction organization|cell junction assembly|positive regulation of muscle cell differentiation	catenin complex|integral to membrane	alpha-catenin binding|beta-catenin binding|calcium ion binding|gamma-catenin binding	g.chr18:25565628G>A	S42303	CCDS11891.1	18q12.1	2010-01-26			ENSG00000170558	ENSG00000170558		"CD molecules", "Cadherins / Major cadherins"	1759	protein-coding gene	gene with protein product	"N-cadherin"	114020		NCAD		2384753, 7731968, 2216790	Standard	NM_001792		Approved	CDHN, CD325	uc002kwg.2	P19022	OTTHUMG00000059940	ENST00000269141.3:c.1839C>T	18.37:g.25565628G>A						CDH2_ENST00000399380.3_Silent_p.C582C	p.C613C	NM_001792.3	NP_001783.2	P19022	CADH2_HUMAN			12	2262	-			613			Cadherin 5.		A8MWK3|B0YIY6|Q14923|Q8N173	Silent	SNP	ENST00000269141.3	37	c.1839C>T	CCDS11891.1																																																																																				0.408	CDH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133246.3	NM_001792		4	62	0	0	0	1	0	4	62					A	25565628	G	A	25565628	2	1	265	1	0	0	0	0	0	0	0	1	3105	1079	38	1		1	CDH2	18	25565628	Silent	SNP	G	TCGA-J4-A67L-01A-11D-A30E-08		25565628	52511620	37	12438											
GMIP	51291	broad.mit.edu	37	chr19	19748340	19748340	+	Frame_Shift_Del	DEL	C	C	-																															ggggccacgctctgcctgcgCcccccgcagcccgaagagac																										TCGA-J4-A67L-01A-11D-A30E-08	TCGA-J4-A67L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7657dad4-c2db-417a-a77c-4de308ef3f61	046e13f7-4c6e-4ee1-97c8-8adf4fa21c42	g.chr19:19748340delC	ENST00000203556.4	-	11	1095	c.958delG	c.(958-960)gcgfs	p.A320fs	GMIP_ENST00000445806.2_Frame_Shift_Del_p.A320fs|GMIP_ENST00000587238.1_Frame_Shift_Del_p.A320fs|GMIP_ENST00000586269.1_5'Flank	NM_016573.2	NP_057657.2	Q9P107	GMIP_HUMAN	GEM interacting protein	320					intracellular signal transduction (GO:0035556)|negative regulation of Rho GTPase activity (GO:0034259)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|intracellular (GO:0005622)	metal ion binding (GO:0046872)|Rho GTPase activator activity (GO:0005100)			breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						TCTGCCTGCGCCCCCCGCAGC	0.741																																						ENST00000203556.4																			0				breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						c.(958-960)cgfs		GEM interacting protein							2	2	2					19																	19748340		1436	2879	4315	SO:0001589	frameshift_variant	51291				negative regulation of Rho GTPase activity|small GTPase mediated signal transduction	cytosol	metal ion binding|protein binding|Rho GTPase activator activity	g.chr19:19748340delC	AF132541	CCDS12408.1, CCDS74318.1	19p13.11	2011-09-07				ENSG00000089639		"Rho GTPase activating proteins"	24852	protein-coding gene	gene with protein product		609694				12093360, 16086184	Standard	XM_005259927		Approved	ARHGAP46	uc002nnd.3	Q9P107		ENST00000203556.4:c.958delG	19.37:g.19748340delC	ENSP00000203556:p.Ala320fs					GMIP_ENST00000445806.2_Frame_Shift_Del_p.A320fs|GMIP_ENST00000587238.1_Frame_Shift_Del_p.A320fs	p.A320fs	NM_016573.2	NP_057657.2	Q9P107	GMIP_HUMAN			11	1095	-			320					A0AVN9|B7ZLZ0	Frame_Shift_Del	DEL	ENST00000203556.4	37	c.958delG	CCDS12408.1																																																																																				0.741	GMIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460551.1	NM_016573		2	4						2	4	---	---	---	---	-	19748340	C	-	19748340	7	5	265	1	0	1	0	1	0	0	0	0	6491	739	26	0	1998	0	GMIP	19	19748340	Frame_Shift_Del	DEL	C	TCGA-J4-A67L-01A-11D-A30E-08		19748340	39380643	38	12439											
ZNF253	56242	broad.mit.edu	37	chr19	20002792	20002792	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtcctcaaaccttactacaCataagaaaattcatactgga	17	10	4	10	0	2	1	2	0	0	1	3	2	3	2	2	1	4	0	2	1	7	5			TCGA-J4-A67L-01A-11D-A30E-08	TCGA-J4-A67L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7657dad4-c2db-417a-a77c-4de308ef3f61	046e13f7-4c6e-4ee1-97c8-8adf4fa21c42	g.chr19:20002792C>T	ENST00000589717.1	+	4	828	c.736C>T	c.(736-738)Cat>Tat	p.H246Y	AC011477.1_ENST00000578823.1_RNA|ZNF253_ENST00000355650.4_Missense_Mutation_p.H170Y|CTC-559E9.8_ENST00000585571.1_RNA	NM_021047.2	NP_066385.2	O75346	ZN253_HUMAN	zinc finger protein 253	246				Missing (in Ref. 1; AAC26844). {ECO:0000305}.	negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|large_intestine(6)|lung(11)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						CCTTACTACACATAAGAAAAT	0.398																																						ENST00000589717.1																			0				endometrium(1)|kidney(1)|large_intestine(6)|lung(11)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						c.(736-738)Cat>Tat		zinc finger protein 253							46	51	49					19																	20002792		2169	4282	6451	SO:0001583	missense	56242				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:20002792C>T	AF038951	CCDS42532.1	19p12	2014-02-12	2003-12-17		ENSG00000256771	ENSG00000256771		"Zinc fingers, C2H2-type", "-"	13497	protein-coding gene	gene with protein product		606954	"zinc finger protein 411"	ZNF411		10585455	Standard	NM_021047		Approved	BMZF-1, FLJ90391	uc002noj.3	O75346	OTTHUMG00000182369	ENST00000589717.1:c.736C>T	19.37:g.20002792C>T	ENSP00000468720:p.His246Tyr					ZNF253_ENST00000355650.4_Missense_Mutation_p.H170Y	p.H246Y	NM_021047.2	NP_066385.2	O75346	ZN253_HUMAN			4	828	+			246	Missing (in Ref. 1; AAC26844).				A4FVA7|Q0P6G3|Q6P0L2|Q8NCA3|Q8NCF9	Missense_Mutation	SNP	ENST00000589717.1	37	c.736C>T	CCDS42532.1	.	.	.	.	.	.	.	.	.	.	c	14.56	2.571445	0.45798	.	.	ENSG00000256771	ENST00000355650	.	.	.	0.876	0.876	0.19138	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.82066	0.4956	H	0.96430	3.82	0.36239	D	0.853113	D	0.89917	1.0	D	0.87578	0.998	T	0.82934	-0.0211	7	.	.	.	.	7.1488	0.25597	0.0:1.0:0.0:0.0	.	246	O75346	ZN253_HUMAN	Y	246	.	.	H	+	1	0	ZNF253	19863792	0.996000	0.38824	0.035000	0.18076	0.035000	0.12851	5.226000	0.65299	0.293000	0.22520	0.298000	0.19748	CAT		0.398	ZNF253-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460802.1	NM_021047		9	83	0	0	0	1	0	9	83					T	20002792	C	T	20002792	3	4	265	1	0	0	0	0	1	0	0	0	17794	478	17	3	750	3	ZNF253	19	20002792	Missense_Mutation	SNP	C	TCGA-J4-A67L-01A-11D-A30E-08	254452	20002792	39126191	39	12440											
PSG3	5671	broad.mit.edu	37	chr19	43233351	43233351	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acagagcaagcatagagcccGctatgctttgtagtaatctg	12	10	10	9	1	1	2	0	0	1	2	1	2	1	2	1	0	4	6	1	0	5	5	rs374575970		TCGA-J4-A67L-01A-11D-A30E-08	TCGA-J4-A67L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7657dad4-c2db-417a-a77c-4de308ef3f61	046e13f7-4c6e-4ee1-97c8-8adf4fa21c42	g.chr19:43233351G>A	ENST00000327495.5	-	5	1351	c.1167C>T	c.(1165-1167)agC>agT	p.S389S	PSG3_ENST00000595140.1_Silent_p.S389S	NM_021016.3	NP_066296.2	Q16557	PSG3_HUMAN	pregnancy specific beta-1-glycoprotein 3	389	Ig-like C2-type 3.				defense response (GO:0006952)|female pregnancy (GO:0007565)	extracellular region (GO:0005576)				central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36		Prostate(69;0.00682)				CATAGAGCCCGCTATGCTTTG	0.468																																						ENST00000327495.5																			0				central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36						c.(1165-1167)agC>agT		pregnancy specific beta-1-glycoprotein 3		G		0,4406		0,0,2203	183	190	187		1167	-1.1	0	19		187	1,8599		0,1,4299	no	coding-synonymous	PSG3	NM_021016.3		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		389/429	43233351	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	5671				defense response|female pregnancy	extracellular region		g.chr19:43233351G>A		CCDS12611.1	19q13.2	2013-01-29			ENSG00000221826	ENSG00000221826		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	9520	protein-coding gene	gene with protein product		176392				2341148	Standard	NM_021016		Approved		uc002oue.3	Q16557	OTTHUMG00000151120	ENST00000327495.5:c.1167C>T	19.37:g.43233351G>A						PSG3_ENST00000595140.1_Silent_p.S389S	p.S389S	NM_021016.3	NP_066296.2	Q16557	PSG3_HUMAN			5	1351	-		Prostate(69;0.00682)	389			Ig-like C2-type 3.		Q08265|Q9BRW2|Q9UPL4|Q9UQ77	Silent	SNP	ENST00000327495.5	37	c.1167C>T	CCDS12611.1																																																																																				0.468	PSG3-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321423.2	NM_021016		5	378	0	0	0	1	0	5	378					A	43233351	G	A	43233351	2	1	265	1	0	0	0	0	0	0	0	1	12656	1078	38	1		1	PSG3	19	43233351	Silent	SNP	G	TCGA-J4-A67L-01A-11D-A30E-08	23230559	43233351	15895632	40	12441											
ZNF528	84436	broad.mit.edu	37	chr19	52919156	52919156	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaacggttcatactggtgagAaaccttacaaatgtgaagaa	17	9	9	6	1	1	3	1	2	0	2	1	4	1	3	1	2	4	1	1	2	7	3			TCGA-J4-A67L-01A-11D-A30E-08	TCGA-J4-A67L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7657dad4-c2db-417a-a77c-4de308ef3f61	046e13f7-4c6e-4ee1-97c8-8adf4fa21c42	g.chr19:52919156A>G	ENST00000360465.3	+	7	1477	c.1051A>G	c.(1051-1053)Aaa>Gaa	p.K351E	ZNF528_ENST00000391788.2_3'UTR	NM_032423.2	NP_115799.2	Q3MIS6	ZN528_HUMAN	zinc finger protein 528	351					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(6)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	39				GBM - Glioblastoma multiforme(134;0.00249)|OV - Ovarian serous cystadenocarcinoma(262;0.00817)		TACTGGTGAGAAACCTTACAA	0.388																																						ENST00000360465.3																			0				breast(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(6)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	39						c.(1051-1053)Aaa>Gaa		zinc finger protein 528							67	66	66					19																	52919156		2203	4300	6503	SO:0001583	missense	84436				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52919156A>G	AB058730	CCDS33091.1	19q13	2013-01-08			ENSG00000167555	ENSG00000167555		"Zinc fingers, C2H2-type", "-"	29384	protein-coding gene	gene with protein product		615580				11347906	Standard	NM_032423		Approved	KIAA1827	uc002pzh.3	Q3MIS6	OTTHUMG00000156494	ENST00000360465.3:c.1051A>G	19.37:g.52919156A>G	ENSP00000353652:p.Lys351Glu					ZNF528_ENST00000391788.2_3'UTR	p.K351E	NM_032423.2	NP_115799.2	Q3MIS6	ZN528_HUMAN		GBM - Glioblastoma multiforme(134;0.00249)|OV - Ovarian serous cystadenocarcinoma(262;0.00817)	7	1477	+			351					B3KPN4|Q86T88|Q96JK0	Missense_Mutation	SNP	ENST00000360465.3	37	c.1051A>G	CCDS33091.1	.	.	.	.	.	.	.	.	.	.	A	13.07	2.128686	0.37533	.	.	ENSG00000167555	ENST00000360465	T	0.27104	1.69	2.08	0.972	0.19704	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.34454	0.0898	L	0.52823	1.66	0.24187	N	0.995564	P	0.50066	0.931	P	0.54856	0.762	T	0.15037	-1.0451	9	0.87932	D	0	.	7.0666	0.25156	0.7683:0.2317:0.0:0.0	.	351	Q3MIS6	ZN528_HUMAN	E	351	ENSP00000353652:K351E	ENSP00000353652:K351E	K	+	1	0	ZNF528	57610968	0.994000	0.37717	0.923000	0.36655	0.124000	0.20399	3.234000	0.51320	0.050000	0.15949	0.533000	0.62120	AAA		0.388	ZNF528-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344336.1	NM_032423		16	68	0	0	0	1	0	16	68					G	52919156	A	G	52919156	3	3	265	1	0	0	0	0	1	0	0	0	17966	247	9	4	1065	4	ZNF528	19	52919156	Missense_Mutation	SNP	A	TCGA-J4-A67L-01A-11D-A30E-08	9685805	52919156	6209827	41	12442											
NLRP4	147945	broad.mit.edu	37	chr19	56379186	56379186	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcaaccagttagacacaggCgtgccccttttgtgtgaagc	9	10	11	11	1	0	2	0	1	0	1	0	2	0	2	3	1	4	2	3	1	3	3			TCGA-J4-A67L-01A-11D-A30E-08	TCGA-J4-A67L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7657dad4-c2db-417a-a77c-4de308ef3f61	046e13f7-4c6e-4ee1-97c8-8adf4fa21c42	g.chr19:56379186C>T	ENST00000301295.6	+	6	2720	c.2298C>T	c.(2296-2298)ggC>ggT	p.G766G	NLRP4_ENST00000346986.5_Intron|NLRP4_ENST00000587891.1_Silent_p.G691G	NM_134444.4	NP_604393.2	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	766					inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of type I interferon production (GO:0032481)|regulation of type I interferon production (GO:0032479)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)	p.G766G(1)		breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		TAGACACAGGCGTGCCCCTTT	0.542																																						ENST00000301295.6																			1	Substitution - coding silent(1)	p.G766G(1)	large_intestine(1)	breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42						c.(2296-2298)ggC>ggT		NLR family, pyrin domain containing 4							172	141	151					19																	56379186		2203	4300	6503	SO:0001819	synonymous_variant	147945						ATP binding	g.chr19:56379186C>T	AF479747	CCDS12936.1	19q13.43	2009-03-27	2006-12-08	2006-12-08				"Nucleotide-binding domain and leucine rich repeat containing"	22943	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 4", "cancer/testis antigen 58"	609645	"NACHT, leucine rich repeat and PYD containing 4"	NALP4		12563287, 12019269	Standard	NM_134444		Approved	PYPAF4, FLJ32126, PAN2, RNH2, CLR19.5, CT58	uc002qmd.4	Q96MN2		ENST00000301295.6:c.2298C>T	19.37:g.56379186C>T						NLRP4_ENST00000346986.5_Intron|NLRP4_ENST00000587891.1_Silent_p.G691G	p.G766G	NM_134444.4	NP_604393.2	Q96MN2	NALP4_HUMAN		GBM - Glioblastoma multiforme(193;0.0606)	6	2720	+		Colorectal(82;0.0002)|Ovarian(87;0.221)	766					Q86W87|Q96AY6	Silent	SNP	ENST00000301295.6	37	c.2298C>T	CCDS12936.1																																																																																				0.542	NLRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457367.2	NM_134444		5	102	0	0	0	1	0	5	102					T	56379186	C	T	56379186	2	4	265	1	0	0	0	0	0	0	0	1	10479	755	27	1		1	NLRP4	19	56379186	Silent	SNP	C	TCGA-J4-A67L-01A-11D-A30E-08	3460030	56379186	2749797	42	12443											
ORC1L	4998	broad.mit.edu	37	chr1	52847357	52847358	+	Frame_Shift_Del	DEL	AG	AG	-																															catcatcttcaaaggcctttAgatgcttgagccgggacctt																										TCGA-J4-A67M-01A-11D-A30E-08	TCGA-J4-A67M-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da36622f-b6d4-427f-b233-ed97fc76abc5	085bf8ec-1841-4a4b-81c2-3ea1da79c1ed	g.chr1:52847357_52847358delAG	ENST00000371568.3	-	14	2307_2308	c.2089_2090delCT	c.(2089-2091)ctafs	p.L697fs	ORC1_ENST00000371566.1_Frame_Shift_Del_p.L697fs	NM_001190818.1|NM_001190819.1|NM_004153.3	NP_001177747.1|NP_001177748.1|NP_004144.2	Q13415	ORC1_HUMAN	origin recognition complex, subunit 1	697	Necessary and sufficient for ORC complex assembly.				DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear origin of replication recognition complex (GO:0005664)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|origin recognition complex (GO:0000808)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)			breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						AAAGGCCTTTAGATGCTTGAGC	0.515																																						ENST00000371568.3																			0				breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						c.(2089-2091)afs		origin recognition complex, subunit 1																																				SO:0001589	frameshift_variant	4998				cell cycle checkpoint|DNA-dependent DNA replication initiation|M/G1 transition of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle	cytosol|nuclear origin of replication recognition complex|nucleolus|nucleoplasm|plasma membrane	ATP binding|DNA binding|nucleoside-triphosphatase activity|protein binding	g.chr1:52847357_52847358delAG		CCDS566.1	1p32	2010-10-12	2010-10-12	2010-10-12	ENSG00000085840	ENSG00000085840		"ATPases / AAA-type"	8487	protein-coding gene	gene with protein product	"origin recognition complex, subunit 1, S. cerevisiae, homolog-like", "origin recognition complex 1", "replication control protein 1"	601902	"origin recognition complex, subunit 1 (yeast homolog)-like", "origin recognition complex, subunit 1-like (yeast)", "origin recognition complex, subunit 1 homolog (S. cerevisiae)"	ORC1L		8884289	Standard	NM_004153		Approved	HSORC1, PARC1	uc001ctu.3	Q13415	OTTHUMG00000008104	ENST00000371568.3:c.2089_2090delCT	1.37:g.52847357_52847358delAG	ENSP00000360623:p.Leu697fs					ORC1_ENST00000371566.1_Frame_Shift_Del_p.L697fs	p.L697fs	NM_001190818.1|NM_001190819.1|NM_004153.3	NP_001177747.1|NP_001177748.1|NP_004144.2	Q13415	ORC1_HUMAN			14	2307_2308	-			697			Necessary and sufficient for ORC complex assembly.		D3DQ34|Q13471|Q5T0F5	Frame_Shift_Del	DEL	ENST00000371568.3	37	c.2089_2090delCT	CCDS566.1																																																																																				0.515	ORC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022202.1	NM_004153		10	87						10	87	---	---	---	---	-	52847358	AG	-	52847357	7	5	266	1	0	1	0	1	0	0	0	0	11261	420	15	0	511	0	ORC1L	1	52847357	Frame_Shift_Del	DEL	AG	TCGA-J4-A67M-01A-11D-A30E-08		52847357	196403264	1	12444											
SGIP1	84251	broad.mit.edu	37	chr1	67148041	67148041	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tggctcgggccctggtccggGgaccaccagtggtatgtctt	4	10	15	12	2	1	0	0	0	1	0	3	1	2	1	4	6	0	2	4	6	1	2			TCGA-J4-A67M-01A-11D-A30E-08	TCGA-J4-A67M-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da36622f-b6d4-427f-b233-ed97fc76abc5	085bf8ec-1841-4a4b-81c2-3ea1da79c1ed	g.chr1:67148041G>A	ENST00000371037.4	+	15	1381	c.1304G>A	c.(1303-1305)gGg>gAg	p.G435E	SGIP1_ENST00000371035.3_Intron|SGIP1_ENST00000237247.6_Missense_Mutation_p.G439E|SGIP1_ENST00000371036.3_Intron|SGIP1_ENST00000371039.1_Intron	NM_032291.2	NP_115667.2	Q9BQI5	SGIP1_HUMAN	SH3-domain GRB2-like (endophilin) interacting protein 1	435	Pro-rich.				endocytosis (GO:0006897)|membrane tubulation (GO:0097320)|positive regulation of energy homeostasis (GO:2000507)|positive regulation of feeding behavior (GO:2000253)|positive regulation of receptor-mediated endocytosis (GO:0048260)|response to dietary excess (GO:0002021)	AP-2 adaptor complex (GO:0030122)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	microtubule binding (GO:0008017)|phospholipid binding (GO:0005543)|SH3 domain binding (GO:0017124)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(43)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	71						CCTGGTCCGGGGACCACCAGT	0.607																																						ENST00000371037.4																			0				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(43)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	71						c.(1303-1305)gGg>gAg		SH3-domain GRB2-like (endophilin) interacting protein 1							111	125	120					1																	67148041		2191	4280	6471	SO:0001583	missense	84251				positive regulation of energy homeostasis|positive regulation of feeding behavior|positive regulation of receptor-mediated endocytosis|response to dietary excess	AP-2 adaptor complex	microtubule binding|phospholipid binding|SH3 domain binding	g.chr1:67148041G>A	AL136561	CCDS30744.1	1p31.3	2008-02-05			ENSG00000118473	ENSG00000118473			25412	protein-coding gene	gene with protein product		611540				11230166	Standard	NM_032291		Approved	DKFZp761D221	uc001dcr.3	Q9BQI5	OTTHUMG00000009161	ENST00000371037.4:c.1304G>A	1.37:g.67148041G>A	ENSP00000360076:p.Gly435Glu					SGIP1_ENST00000371035.3_Intron|SGIP1_ENST00000371036.3_Intron|SGIP1_ENST00000371039.1_Intron|SGIP1_ENST00000237247.6_Missense_Mutation_p.G439E	p.G435E	NM_032291.2	NP_115667.2	Q9BQI5	SGIP1_HUMAN			15	1381	+			435			Pro-rich.		A6NL81|A6NLD1|Q4LE32|Q5VYE2|Q5VYE3|Q5VYE4|Q68D76|Q6MZY6|Q8IWC2	Missense_Mutation	SNP	ENST00000371037.4	37	c.1304G>A	CCDS30744.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.104667	0.77096	.	.	ENSG00000118473	ENST00000237247;ENST00000371038;ENST00000407289;ENST00000371037	T;T	0.03124	4.07;4.04	5.49	5.49	0.81192	.	0.370287	0.30869	N	0.008711	T	0.06554	0.0168	L	0.44542	1.39	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.80764	0.922;0.994	T	0.51934	-0.8642	10	0.10902	T	0.67	-8.7713	19.3716	0.94490	0.0:0.0:1.0:0.0	.	438;435	A6NEV3;Q9BQI5	.;SGIP1_HUMAN	E	439;438;438;435	ENSP00000237247:G439E;ENSP00000360076:G435E	ENSP00000237247:G439E	G	+	2	0	SGIP1	66920629	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	6.793000	0.75130	2.570000	0.86706	0.455000	0.32223	GGG		0.607	SGIP1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000025395.4	NM_032291		53	271	0	0	0	1	0	53	271					A	67148041	G	A	67148041	3	1	266	1	0	0	0	0	1	0	0	0	14206	1232	43	3	1362	3	SGIP1	1	67148041	Missense_Mutation	SNP	G	TCGA-J4-A67M-01A-11D-A30E-08	14300684	67148041	182102580	2	12445											
OR10J5	127385	broad.mit.edu	37	chr1	159505651	159505651	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tggagatgatggtcaatgcaGatgatagtcacaatgatgat	14	11	12	4	0	2	6	2	4	0	2	2	7	2	6	0	2	1	1	0	2	3	1			TCGA-J4-A67M-01A-11D-A30E-08	TCGA-J4-A67M-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da36622f-b6d4-427f-b233-ed97fc76abc5	085bf8ec-1841-4a4b-81c2-3ea1da79c1ed	g.chr1:159505651G>A	ENST00000334857.2	-	1	191	c.147C>T	c.(145-147)atC>atT	p.I49I		NM_001004469.1	NP_001004469.1	Q8NHC4	O10J5_HUMAN	olfactory receptor, family 10, subfamily J, member 5	49						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	22	all_hematologic(112;0.0429)					GGTCAATGCAGATGATAGTCA	0.418																																						ENST00000334857.2																			0				kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	22						c.(145-147)atC>atT		olfactory receptor, family 10, subfamily J, member 5							175	146	156					1																	159505651		2203	4300	6503	SO:0001819	synonymous_variant	127385				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:159505651G>A		CCDS30910.1	1q23.2	2012-08-09			ENSG00000184155	ENSG00000184155		"GPCR / Class A : Olfactory receptors"	14993	protein-coding gene	gene with protein product							Standard	NM_001004469		Approved		uc010piw.2	Q8NHC4	OTTHUMG00000022738	ENST00000334857.2:c.147C>T	1.37:g.159505651G>A							p.I49I	NM_001004469.1	NP_001004469.1	Q8NHC4	O10J5_HUMAN			1	191	-	all_hematologic(112;0.0429)		49					B9EH35|Q6IFH2	Silent	SNP	ENST00000334857.2	37	c.147C>T	CCDS30910.1																																																																																				0.418	OR10J5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059021.1	NM_001004469		27	114	0	0	0	1	0	27	114					A	159505651	G	A	159505651	2	1	266	1	0	0	0	0	0	0	0	1	10912	932	33	3		3	OR10J5	1	159505651	Silent	SNP	G	TCGA-J4-A67M-01A-11D-A30E-08	92357610	159505651	89744970	3	12446											
C2orf48	348738	broad.mit.edu	37	chr2	10350627	10350627	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	accaagaatgcacagagggcGctgggctccaagcttcagca	12	5	12	12	1	1	2	1	0	0	2	2	2	2	2	2	2	3	5	2	2	3	1	rs372624987		TCGA-J4-A67M-01A-11D-A30E-08	TCGA-J4-A67M-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da36622f-b6d4-427f-b233-ed97fc76abc5	085bf8ec-1841-4a4b-81c2-3ea1da79c1ed	g.chr2:10350627G>A	ENST00000381786.3	+	4	673	c.384G>A	c.(382-384)gcG>gcA	p.A128A		NM_182626.2	NP_872432.1	Q96LS8	CB048_HUMAN	chromosome 2 open reading frame 48	128										endometrium(1)|lung(7)	8	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.188)		CACAGAGGGCGCTGGGCTCCA	0.582													G|||	1	0.000199681	8e-04	0	5008	,	,		17688	0		0	False		,,,				2504	0					ENST00000381786.3																			0				endometrium(1)|lung(7)	8						c.(382-384)gcG>gcA		chromosome 2 open reading frame 48		G		1,4405	2.1+/-5.4	0,1,2202	63	68	66		384	-2.8	0	2		66	0,8600		0,0,4300	no	coding-synonymous	C2orf48	NM_182626.2		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		128/160	10350627	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	348738							g.chr2:10350627G>A	AK057831	CCDS1670.1	2p25.1	2006-09-01			ENSG00000163009	ENSG00000163009			26322	protein-coding gene	gene with protein product						12477932	Standard	NM_182626		Approved	FLJ25102	uc021vds.1	Q96LS8	OTTHUMG00000119017	ENST00000381786.3:c.384G>A	2.37:g.10350627G>A							p.A128A	NM_182626.2	NP_872432.1	Q96LS8	CB048_HUMAN		Epithelial(75;0.188)	4	673	+	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		128						Silent	SNP	ENST00000381786.3	37	c.384G>A	CCDS1670.1																																																																																				0.582	C2orf48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239217.1	NM_182626		4	146	0	0	0	1	0	4	146					A	10350627	G	A	10350627	2	1	266	1	0	0	0	0	0	0	0	1	2170	1074	38	1		1	C2orf48	2	10350627	Silent	SNP	G	TCGA-J4-A67M-01A-11D-A30E-08		10350627	232848746	4	12447											
KCNF1	3754	broad.mit.edu	37	chr2	11053086	11053086	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggagaagcccgagtcgtcGtgcccggcgcgggtggtggc	4	6	19	12	6	0	1	0	0	0	1	2	3	0	1	2	5	2	0	2	5	1	0			TCGA-J4-A67M-01A-11D-A30E-08	TCGA-J4-A67M-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da36622f-b6d4-427f-b233-ed97fc76abc5	085bf8ec-1841-4a4b-81c2-3ea1da79c1ed	g.chr2:11053086G>A	ENST00000295082.1	+	1	1024	c.534G>A	c.(532-534)tcG>tcA	p.S178S		NM_002236.4	NP_002227.2	Q9H3M0	KCNF1_HUMAN	potassium voltage-gated channel, subfamily F, member 1	178					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)			NS(1)|endometrium(2)|large_intestine(2)|lung(10)|ovary(2)|skin(1)|urinary_tract(1)	19	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.128)		CCGAGTCGTCGTGCCCGGCGC	0.682																																						ENST00000295082.1																			0				NS(1)|endometrium(2)|large_intestine(2)|lung(10)|ovary(2)|skin(1)|urinary_tract(1)	19						c.(532-534)tcG>tcA		potassium voltage-gated channel, subfamily F, member 1							34	45	41					2																	11053086		2198	4295	6493	SO:0001819	synonymous_variant	3754					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr2:11053086G>A	AF033382	CCDS1676.1	2p25	2011-07-05			ENSG00000162975	ENSG00000162975		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6246	protein-coding gene	gene with protein product		603787		KCNF		9434767, 16382104	Standard	NM_002236		Approved	Kv5.1, kH1, IK8	uc002rax.3	Q9H3M0	OTTHUMG00000119054	ENST00000295082.1:c.534G>A	2.37:g.11053086G>A							p.S178S	NM_002236.4	NP_002227.2	Q9H3M0	KCNF1_HUMAN		Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.128)	1	1024	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)		178					O43527|Q585L3	Silent	SNP	ENST00000295082.1	37	c.534G>A	CCDS1676.1																																																																																				0.682	KCNF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239265.1	NM_002236		5	84	0	0	0	1	0	5	84					A	11053086	G	A	11053086	2	1	266	1	0	0	0	0	0	0	0	1	8026	1132	40	1		1	KCNF1	2	11053086	Silent	SNP	G	TCGA-J4-A67M-01A-11D-A30E-08	702459	11053086	232146287	5	12448											
DHX57	90957	broad.mit.edu	37	chr2	39053764	39053764	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	aatcttagttactcctgcagGaggttttacaaacacagcct	12	12	7	10	0	1	0	0	0	1	0	2	1	2	1	2	2	5	3	2	2	5	4			TCGA-J4-A67M-01A-11D-A30E-08	TCGA-J4-A67M-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da36622f-b6d4-427f-b233-ed97fc76abc5	085bf8ec-1841-4a4b-81c2-3ea1da79c1ed	g.chr2:39053764G>A	ENST00000295373.6	-	15	2833	c.2707C>T	c.(2707-2709)Cct>Tct	p.P903S		NM_198963.1	NP_945314.1	Q6P158	DHX57_HUMAN	DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57	903	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.						ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(20)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	62		all_hematologic(82;0.248)				ACTCCTGCAGGAGGTTTTACA	0.378																																					Melanoma(191;1090 2095 4375 23729 47341)	ENST00000295373.6																			0				NS(2)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(20)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						c.(2707-2709)Cct>Tct		DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57							103	95	97					2																	39053764		2203	4300	6503	SO:0001583	missense	90957						ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding|zinc ion binding	g.chr2:39053764G>A	AF070590	CCDS1800.1	2p22.3	2008-02-05			ENSG00000163214	ENSG00000163214		"DEAH-boxes"	20086	protein-coding gene	gene with protein product							Standard	NM_198963		Approved	DDX57	uc002rrf.3	Q6P158	OTTHUMG00000102103	ENST00000295373.6:c.2707C>T	2.37:g.39053764G>A	ENSP00000295373:p.Pro903Ser						p.P903S	NM_198963.1	NP_945314.1	Q6P158	DHX57_HUMAN			15	2833	-		all_hematologic(82;0.248)	903			Helicase C-terminal.		A2RRC7|Q53SI4|Q6P9G1|Q7Z6H3|Q8NG17|Q96M33	Missense_Mutation	SNP	ENST00000295373.6	37	c.2707C>T	CCDS1800.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.6|20.6	4.025984|4.025984	0.75390|0.75390	.|.	.|.	ENSG00000163214|ENSG00000163214	ENST00000295373|ENST00000452978	T|.	0.03065|.	4.06|.	5.38|5.38	5.38|5.38	0.77491|0.77491	Helicase, C-terminal (3);|.	0.000000|.	0.52532|.	D|.	0.000073|.	T|T	0.70482|0.70482	0.3229|0.3229	L|L	0.52364|0.52364	1.645|1.645	0.80722|0.80722	D|D	1|1	P;D;D|.	0.60575|.	0.908;0.988;0.971|.	P;D;P|.	0.67231|.	0.777;0.95;0.812|.	T|T	0.67055|0.67055	-0.5767|-0.5767	10|5	0.72032|.	D|.	0.01|.	.|.	19.1177|19.1177	0.93348|0.93348	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	903;903;295|.	Q6P158;B4DKW2;Q59G60|.	DHX57_HUMAN;.;.|.	S|F	903|226	ENSP00000295373:P903S|.	ENSP00000295373:P903S|.	P|S	-|-	1|2	0|0	DHX57|DHX57	38907268|38907268	1.000000|1.000000	0.71417|0.71417	0.953000|0.953000	0.39169|0.39169	0.728000|0.728000	0.41692|0.41692	9.731000|9.731000	0.98807|0.98807	2.504000|2.504000	0.84457|0.84457	0.563000|0.563000	0.77884|0.77884	CCT|TCC		0.378	DHX57-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219940.2	NM_145646		13	37	0	0	0	1	0	13	37					A	39053764	G	A	39053764	3	1	266	1	0	0	0	0	1	0	0	0	4513	1174	41	3	1493	3	DHX57	2	39053764	Missense_Mutation	SNP	G	TCGA-J4-A67M-01A-11D-A30E-08	28000678	39053764	204145609	6	12449											
ZEB2	9839	broad.mit.edu	37	chr2	145162525	145162525	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgatgctgactgcatgaccaTcgcgttcctccagttttctt	6	14	8	13	3	1	2	0	2	1	0	4	3	3	2	3	0	2	4	3	0	0	4			TCGA-J4-A67M-01A-11D-A30E-08	TCGA-J4-A67M-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da36622f-b6d4-427f-b233-ed97fc76abc5	085bf8ec-1841-4a4b-81c2-3ea1da79c1ed	g.chr2:145162525T>C	ENST00000558170.2	-	5	1654	c.470A>G	c.(469-471)gAt>gGt	p.D157G	ZEB2_ENST00000539609.3_Missense_Mutation_p.D133G|ZEB2_ENST00000409487.3_Missense_Mutation_p.D157G|ZEB2_ENST00000303660.4_Missense_Mutation_p.D157G	NM_014795.3	NP_055610.1	O60315	ZEB2_HUMAN	zinc finger E-box binding homeobox 2	157					cell proliferation in forebrain (GO:0021846)|developmental pigmentation (GO:0048066)|hippocampus development (GO:0021766)|melanocyte migration (GO:0097324)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|neural tube closure (GO:0001843)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of melanin biosynthetic process (GO:0048023)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of melanosome organization (GO:1903056)|somitogenesis (GO:0001756)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|phosphatase regulator activity (GO:0019208)			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(6)|large_intestine(23)|lung(45)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	107				BRCA - Breast invasive adenocarcinoma(221;0.112)		TGCATGACCATCGCGTTCCTC	0.468																																					Melanoma(33;1235 1264 5755 16332)	ENST00000558170.2																			0				breast(3)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(6)|large_intestine(23)|lung(45)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	107						c.(469-471)gAt>gGt		zinc finger E-box binding homeobox 2							107	91	97					2																	145162525		2203	4300	6503	SO:0001583	missense	9839					cytoplasm|nucleolus	phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|SMAD binding|zinc ion binding	g.chr2:145162525T>C	AB011141	CCDS2186.1, CCDS54403.1	2q22.3	2013-01-08	2007-02-15	2007-02-15	ENSG00000169554	ENSG00000169554		"Zinc fingers, C2H2-type", "Homeoboxes / ZF class"	14881	protein-coding gene	gene with protein product	"SMAD interacting protein 1"	605802	"zinc finger homeobox 1b"	ZFHX1B			Standard	NM_014795		Approved	KIAA0569, SIP-1, SIP1	uc002tvu.3	O60315	OTTHUMG00000131834	ENST00000558170.2:c.470A>G	2.37:g.145162525T>C	ENSP00000454157:p.Asp157Gly					ZEB2_ENST00000539609.3_Missense_Mutation_p.D133G|ZEB2_ENST00000409487.3_Missense_Mutation_p.D157G|ZEB2_ENST00000303660.4_Missense_Mutation_p.D157G	p.D157G	NM_014795.3	NP_055610.1	O60315	ZEB2_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.112)	5	1654	-			157					A0JP09|B7Z2P2|F5H814|Q9UED1	Missense_Mutation	SNP	ENST00000558170.2	37	c.470A>G	CCDS2186.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	15.21|15.21	2.765895|2.765895	0.49574|0.49574	.|.	.|.	ENSG00000169554|ENSG00000169554	ENST00000392860;ENST00000539609;ENST00000303660;ENST00000409487;ENST00000427902;ENST00000392861|ENST00000431672;ENST00000440875	T;T;T;T;T|.	0.76578|.	-1.03;-1.03;-1.03;-1.03;-1.03|.	5.62|5.62	5.62|5.62	0.85841|0.85841	.|.	0.045489|.	0.85682|.	D|.	0.000000|.	T|T	0.62024|0.62024	0.2394|0.2394	L|L	0.44542|0.44542	1.39|1.39	0.80722|0.80722	D|D	1|1	P;P;P;P|.	0.42692|.	0.787;0.565;0.565;0.565|.	B;B;B;B|.	0.39027|.	0.288;0.142;0.142;0.142|.	T|T	0.58589|0.58589	-0.7610|-0.7610	10|5	0.56958|.	D|.	0.05|.	-14.4273|-14.4273	16.1067|16.1067	0.81230|0.81230	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	133;22;156;157|.	F5H814;Q53TD9;A0JP08;O60315|.	.;.;.;ZEB2_HUMAN|.	G|V	152;133;157;157;157;157|123;144	ENSP00000443792:D133G;ENSP00000302501:D157G;ENSP00000386854:D157G;ENSP00000395496:D157G;ENSP00000376601:D157G|.	ENSP00000302501:D157G|.	D|M	-|-	2|1	0|0	ZEB2|ZEB2	144878995|144878995	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	7.997000|7.997000	0.88414|0.88414	2.255000|2.255000	0.74692|0.74692	0.533000|0.533000	0.62120|0.62120	GAT|ATG		0.468	ZEB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254778.5	NM_014795		10	42	0	0	0	1	0	10	42					C	145162525	T	C	145162525	3	2	266	1	0	0	0	0	1	0	0	0	17621	1435	50	4	3198	4	ZEB2	2	145162525	Missense_Mutation	SNP	T	TCGA-J4-A67M-01A-11D-A30E-08	106108761	145162525	98036848	7	12450											
TTN	7273	broad.mit.edu	37	chr2	179476111	179476111	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctcttacagtctgggtcttTggcaaccacattttcagaga	9	13	9	10	0	4	1	1	0	3	1	4	2	4	1	1	2	2	2	1	2	2	4			TCGA-J4-A67M-01A-11D-A30E-08	TCGA-J4-A67M-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da36622f-b6d4-427f-b233-ed97fc76abc5	085bf8ec-1841-4a4b-81c2-3ea1da79c1ed	g.chr2:179476111T>C	ENST00000591111.1	-	219	46146	c.45922A>G	c.(45922-45924)Aaa>Gaa	p.K15308E	TTN_ENST00000359218.5_Missense_Mutation_p.K8009E|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.K7884E|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.K8076E|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.K16949E|TTN_ENST00000342992.6_Missense_Mutation_p.K14381E|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589830.1_RNA			Q8WZ42	TITIN_HUMAN	titin	15308	Fibronectin type-III 11. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCTGGGTCTTTGGCAACCACA	0.383																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(50845-50847)Aaa>Gaa		titin							69	66	67					2																	179476111		1980	4164	6144	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179476111T>C	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.45922A>G	2.37:g.179476111T>C	ENSP00000465570:p.Lys15308Glu					TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.K7884E|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.K8076E|TTN_ENST00000342992.6_Missense_Mutation_p.K14381E|TTN_ENST00000591111.1_Missense_Mutation_p.K15308E|TTN_ENST00000359218.5_Missense_Mutation_p.K8009E|TTN-AS1_ENST00000456053.1_RNA	p.K16949E	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		269	51069	-			15308			Fibronectin type-III 23.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.50845A>G		.	.	.	.	.	.	.	.	.	.	T	13.72	2.322870	0.41096	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.50813	0.73;0.73;0.73;0.73	5.95	5.95	0.96441	Fibronectin, type III (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.56381	0.1981	L	0.49778	1.585	0.53005	D	0.999969	D;D;D;D	0.63046	0.992;0.992;0.992;0.992	P;P;P;P	0.53006	0.715;0.715;0.715;0.715	T	0.59862	-0.7374	9	0.87932	D	0	.	16.4237	0.83790	0.0:0.0:0.0:1.0	.	7884;8009;8076;15308	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	E	14381;7884;8076;8009;7884	ENSP00000343764:K14381E;ENSP00000434586:K7884E;ENSP00000340554:K8076E;ENSP00000352154:K8009E	ENSP00000340554:K8076E	K	-	1	0	TTN	179184356	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.991000	0.88244	2.279000	0.76181	0.533000	0.62120	AAA		0.383	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		4	68	0	0	0	1	0	4	68					C	179476111	T	C	179476111	3	2	266	1	0	0	0	0	1	0	0	0	16732	1821	63	4	57224	4	TTN	2	179476111	Missense_Mutation	SNP	T	TCGA-J4-A67M-01A-11D-A30E-08	34313586	179476111	63723262	8	12451											
RUFY4	285180	broad.mit.edu	37	chr2	218940309	218940309	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atcagggagcaggcaggggtCggggggctctagcatcctgg	7	6	19	9	1	2	0	1	0	1	0	4	1	3	1	1	8	2	4	1	8	1	1			TCGA-J4-A67M-01A-11D-A30E-08	TCGA-J4-A67M-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da36622f-b6d4-427f-b233-ed97fc76abc5	085bf8ec-1841-4a4b-81c2-3ea1da79c1ed	g.chr2:218940309C>T	ENST00000344321.7	+	9	1612	c.1094C>T	c.(1093-1095)tCg>tTg	p.S365L	RUFY4_ENST00000463872.1_3'UTR|RUFY4_ENST00000374155.3_Missense_Mutation_p.S385L|RUFY4_ENST00000441828.2_3'UTR	NM_198483.3	NP_940885.2	Q6ZNE9	RUFY4_HUMAN	RUN and FYVE domain containing 4	365							metal ion binding (GO:0046872)			endometrium(2)|kidney(2)|large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(1)	10		Renal(207;0.0915)		Epithelial(149;4.11e-06)|all cancers(144;0.000519)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		AGGCAGGGGTCGGGGGGCTCT	0.592																																						ENST00000374155.3																			0				endometrium(2)|kidney(2)|large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(1)	10						c.(1153-1155)tCg>tTg		RUN and FYVE domain containing 4							31	34	33					2																	218940309		1932	4132	6064	SO:0001583	missense	285180						metal ion binding	g.chr2:218940309C>T	AK128393		2q35	2007-01-29			ENSG00000188282	ENSG00000188282		"Zinc fingers, FYVE domain containing"	24804	protein-coding gene	gene with protein product							Standard	NM_198483		Approved	FLJ46536	uc010fvl.2	Q6ZNE9	OTTHUMG00000155235	ENST00000344321.7:c.1094C>T	2.37:g.218940309C>T	ENSP00000345900:p.Ser365Leu					RUFY4_ENST00000441828.2_3'UTR|RUFY4_ENST00000344321.7_Missense_Mutation_p.S365L|RUFY4_ENST00000463872.1_3'UTR	p.S385L			Q6ZNE9	RUFY4_HUMAN		Epithelial(149;4.11e-06)|all cancers(144;0.000519)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	8	1564	+		Renal(207;0.0915)	365					Q6ZR96	Missense_Mutation	SNP	ENST00000344321.7	37	c.1154C>T		.	.	.	.	.	.	.	.	.	.	C	4.512	0.095075	0.08681	.	.	ENSG00000188282	ENST00000344321;ENST00000374155	T;T	0.42900	1.58;0.96	4.87	-3.15	0.05233	.	3.602240	0.00447	N	0.000088	T	0.19604	0.0471	N	0.08118	0	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.05835	-1.0861	10	0.27082	T	0.32	3.01	1.471	0.02416	0.3662:0.2975:0.2132:0.1231	.	365	Q6ZNE9	RUFY4_HUMAN	L	365;385	ENSP00000345900:S365L;ENSP00000363270:S385L	ENSP00000345900:S365L	S	+	2	0	RUFY4	218648554	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.774000	0.04684	-0.510000	0.06523	-0.538000	0.04264	TCG		0.592	RUFY4-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_198483		7	40	0	0	0	1	0	7	40					T	218940309	C	T	218940309	3	4	266	1	0	0	0	0	1	0	0	0	13741	893	31	2	1120	2	RUFY4	2	218940309	Missense_Mutation	SNP	C	TCGA-J4-A67M-01A-11D-A30E-08	39464198	218940309	24259064	9	12452											
ALPPL2	251	broad.mit.edu	37	chr2	233271853	233271853	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcagcctgcacagacagccGccaagaacctcatcatcttc	11	7	7	16	1	3	2	2	0	1	2	4	2	3	2	4	0	5	2	4	0	2	1	rs568507509		TCGA-J4-A67M-01A-11D-A30E-08	TCGA-J4-A67M-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da36622f-b6d4-427f-b233-ed97fc76abc5	085bf8ec-1841-4a4b-81c2-3ea1da79c1ed	g.chr2:233271853G>A	ENST00000295453.3	+	2	206	c.154G>A	c.(154-156)Gcc>Acc	p.A52T		NM_031313.2	NP_112603.2	P10696	PPBN_HUMAN	alkaline phosphatase, placental-like 2	52					dephosphorylation (GO:0016311)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)	alkaline phosphatase activity (GO:0004035)|metal ion binding (GO:0046872)			breast(2)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(1)	13		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)	Amifostine(DB01143)	ACAGACAGCCGCCAAGAACCT	0.677													g|||	1	0.000199681	0	0	5008	,	,		15433	0		0.001	False		,,,				2504	0					ENST00000295453.3																			0				breast(2)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(1)	13						c.(154-156)Gcc>Acc		alkaline phosphatase, placental-like 2	Amifostine(DB01143)|Levamisole(DB00848)						68	81	76					2																	233271853		2203	4300	6503	SO:0001583	missense	251				phosphorylation	anchored to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding	g.chr2:233271853G>A	J04948	CCDS2491.1	2q37	2008-05-20			ENSG00000163286	ENSG00000163286			441	protein-coding gene	gene with protein product		171810					Standard	NM_031313		Approved		uc002vss.4	P10696	OTTHUMG00000133257	ENST00000295453.3:c.154G>A	2.37:g.233271853G>A	ENSP00000295453:p.Ala52Thr						p.A52T	NM_031313.2	NP_112603.2	P10696	PPBN_HUMAN		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)	2	206	+		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)	52					A8KAF2|Q16727|Q53S81|Q96CM1	Missense_Mutation	SNP	ENST00000295453.3	37	c.154G>A	CCDS2491.1	.	.	.	.	.	.	.	.	.	.	G	17.79	3.476232	0.63737	.	.	ENSG00000163286	ENST00000295453	D	0.96745	-4.11	2.19	2.19	0.27852	Alkaline phosphatase-like, alpha/beta/alpha (1);Alkaline-phosphatase-like, core domain (1);	0.000000	0.85682	D	0.000000	D	0.98235	0.9416	M	0.93720	3.45	0.58432	D	0.999993	D	0.89917	1.0	D	0.77004	0.989	D	0.98331	1.0533	10	0.87932	D	0	.	11.5762	0.50862	0.0:0.0:1.0:0.0	.	52	P10696	PPBN_HUMAN	T	52	ENSP00000295453:A52T	ENSP00000295453:A52T	A	+	1	0	ALPPL2	232980097	1.000000	0.71417	0.694000	0.30210	0.442000	0.32017	8.858000	0.92256	1.528000	0.49103	0.205000	0.17691	GCC		0.677	ALPPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257034.2	NM_031313		18	199	0	0	0	1	0	18	199					A	233271853	G	A	233271853	3	1	266	1	0	0	0	0	1	0	0	0	549	1087	38	1	160	1	ALPPL2	2	233271853	Missense_Mutation	SNP	G	TCGA-J4-A67M-01A-11D-A30E-08	14331544	233271853	9927520	10	12453											
NDUFA10	4705	broad.mit.edu	37	chr2	240961655	240961655	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatattgccatctacagttaTcactctgctgcgttctgtca	8	16	6	11	1	5	0	2	0	3	0	5	0	5	0	1	0	4	3	1	0	4	6			TCGA-J4-A67M-01A-11D-A30E-08	TCGA-J4-A67M-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da36622f-b6d4-427f-b233-ed97fc76abc5	085bf8ec-1841-4a4b-81c2-3ea1da79c1ed	g.chr2:240961655T>C	ENST00000252711.2	-	2	278	c.178A>G	c.(178-180)Ata>Gta	p.I60V	NDUFA10_ENST00000407129.3_Missense_Mutation_p.I60V|NDUFA10_ENST00000404554.1_Missense_Mutation_p.I60V|NDUFA10_ENST00000307300.4_Missense_Mutation_p.I60V	NM_004544.3	NP_004535.1	O95299	NDUAA_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 10, 42kDa	60					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)	ATP binding (GO:0005524)|NADH dehydrogenase (ubiquinone) activity (GO:0008137)|nucleoside kinase activity (GO:0019206)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)	16		all_epithelial(40;4.26e-15)|Breast(86;4.4e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0396)|Lung NSC(271;0.128)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(121;7.82e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.5e-13)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;2.39e-05)|Lung(119;0.00519)|LUSC - Lung squamous cell carcinoma(224;0.0202)		TCTACAGTTATCACTCTGCTG	0.393																																						ENST00000252711.2																			0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)	16						c.(178-180)Ata>Gta		NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 10, 42kDa	NADH(DB00157)						178	159	165					2																	240961655		2203	4300	6503	SO:0001583	missense	4705				mitochondrial electron transport, NADH to ubiquinone|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|transport	mitochondrial matrix|mitochondrial respiratory chain complex I	ATP binding|NADH dehydrogenase (ubiquinone) activity|phosphotransferase activity, alcohol group as acceptor	g.chr2:240961655T>C	AF087661	CCDS2531.1	2q37.3	2011-07-04	2002-08-29		ENSG00000130414	ENSG00000130414		"Mitochondrial respiratory chain complex / Complex I"	7684	protein-coding gene	gene with protein product	"complex I 42kDa subunit"	603835	"NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 10 (42kD)"			9878551	Standard	NM_004544		Approved	CI-42k	uc002vyn.3	O95299	OTTHUMG00000133350	ENST00000252711.2:c.178A>G	2.37:g.240961655T>C	ENSP00000252711:p.Ile60Val					NDUFA10_ENST00000307300.4_Missense_Mutation_p.I60V|NDUFA10_ENST00000407129.3_Missense_Mutation_p.I60V|NDUFA10_ENST00000404554.1_Missense_Mutation_p.I60V	p.I60V	NM_004544.3	NP_004535.1	O95299	NDUAA_HUMAN		Epithelial(121;7.82e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.5e-13)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;2.39e-05)|Lung(119;0.00519)|LUSC - Lung squamous cell carcinoma(224;0.0202)	2	278	-		all_epithelial(40;4.26e-15)|Breast(86;4.4e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0396)|Lung NSC(271;0.128)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)	60					Q8WXC9	Missense_Mutation	SNP	ENST00000252711.2	37	c.178A>G	CCDS2531.1	.	.	.	.	.	.	.	.	.	.	T	16.08	3.020168	0.54576	.	.	ENSG00000130414	ENST00000252711;ENST00000404554;ENST00000422018;ENST00000443626;ENST00000307300;ENST00000407129	D;D;D;D;D	0.97404	-4.37;-4.37;-4.37;-4.37;-4.37	4.54	4.54	0.55810	.	0.046670	0.85682	D	0.000000	D	0.96128	0.8738	L	0.58810	1.83	0.58432	D	0.999999	P;B;P;P	0.51147	0.702;0.28;0.942;0.553	P;B;P;B	0.49421	0.61;0.13;0.541;0.178	D	0.95110	0.8237	10	0.42905	T	0.14	-26.1022	10.8344	0.46679	0.0:0.0:0.0:1.0	.	60;60;65;60	Q8WXC9;Q8N1B9;Q59FM0;O95299	.;.;.;NDUAA_HUMAN	V	60	ENSP00000252711:I60V;ENSP00000385697:I60V;ENSP00000411527:I60V;ENSP00000302321:I60V;ENSP00000383975:I60V	ENSP00000252711:I60V	I	-	1	0	NDUFA10	240610328	1.000000	0.71417	0.983000	0.44433	0.504000	0.33889	3.904000	0.56325	2.003000	0.58678	0.383000	0.25322	ATA		0.393	NDUFA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257180.2	NM_004544		13	62	0	0	0	1	0	13	62					C	240961655	T	C	240961655	3	2	266	1	0	0	0	0	1	0	0	0	10260	1435	50	4	925	4	NDUFA10	2	240961655	Missense_Mutation	SNP	T	TCGA-J4-A67M-01A-11D-A30E-08	7689802	240961655	2237718	11	12454											
DNAJB8	165721	broad.mit.edu	37	chr3	128182004	128182004	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gttcttgtcggggtgccaacGaagggccagcttgcggtagg	6	9	17	9	3	1	0	0	0	1	0	2	1	1	0	2	5	4	3	2	5	3	4			TCGA-J4-A67M-01A-11D-A30E-08	TCGA-J4-A67M-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da36622f-b6d4-427f-b233-ed97fc76abc5	085bf8ec-1841-4a4b-81c2-3ea1da79c1ed	g.chr3:128182004G>A	ENST00000469083.1	-	2	2642	c.85C>T	c.(85-87)Cgt>Tgt	p.R29C	DNAJB8-AS1_ENST00000471626.1_RNA|DNAJB8_ENST00000319153.3_Missense_Mutation_p.R29C			Q8NHS0	DNJB8_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 8	29	J. {ECO:0000255|PROSITE- ProRule:PRU00286}.				chaperone-mediated protein folding (GO:0061077)|negative regulation of inclusion body assembly (GO:0090084)	cytosol (GO:0005829)|nucleus (GO:0005634)	chaperone binding (GO:0051087)|protein binding involved in protein folding (GO:0044183)|unfolded protein binding (GO:0051082)			kidney(1)|large_intestine(4)|lung(4)|prostate(1)|skin(1)	11				GBM - Glioblastoma multiforme(114;0.177)		GGGTGCCAACGAAGGGCCAGC	0.577																																						ENST00000469083.1																			0				kidney(1)|large_intestine(4)|lung(4)|prostate(1)|skin(1)	11						c.(85-87)Cgt>Tgt		DnaJ (Hsp40) homolog, subfamily B, member 8							132	133	133					3																	128182004		2203	4300	6503	SO:0001583	missense	165721				protein folding		heat shock protein binding|unfolded protein binding	g.chr3:128182004G>A		CCDS3048.1	3q21.3	2014-01-21			ENSG00000179407	ENSG00000179407		"Heat shock proteins / DNAJ (HSP40)"	23699	protein-coding gene	gene with protein product		611337					Standard	NM_153330		Approved	MGC33884, CT156	uc003ekk.2	Q8NHS0	OTTHUMG00000159690	ENST00000469083.1:c.85C>T	3.37:g.128182004G>A	ENSP00000417418:p.Arg29Cys					DNAJB8_ENST00000319153.3_Missense_Mutation_p.R29C	p.R29C			Q8NHS0	DNJB8_HUMAN		GBM - Glioblastoma multiforme(114;0.177)	2	2642	-			29			J.		B3KWV7	Missense_Mutation	SNP	ENST00000469083.1	37	c.85C>T	CCDS3048.1	.	.	.	.	.	.	.	.	.	.	G	19.97	3.925250	0.73213	.	.	ENSG00000179407	ENST00000469083;ENST00000319153	T;T	0.74106	-0.81;-0.81	4.4	2.42	0.29668	Heat shock protein DnaJ, N-terminal (5);	0.119938	0.51477	D	0.000100	T	0.78201	0.4246	L	0.54965	1.715	0.58432	D	0.999999	D	0.89917	1.0	D	0.65773	0.938	T	0.76798	-0.2826	10	0.87932	D	0	.	5.9409	0.19192	0.1018:0.0:0.5184:0.3797	.	29	Q8NHS0	DNJB8_HUMAN	C	29	ENSP00000417418:R29C;ENSP00000316053:R29C	ENSP00000316053:R29C	R	-	1	0	DNAJB8	129664694	1.000000	0.71417	0.999000	0.59377	0.928000	0.56348	5.540000	0.67205	0.824000	0.34613	0.491000	0.48974	CGT		0.577	DNAJB8-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356933.1	NM_153330		38	182	0	0	0	1	0	38	182					A	128182004	G	A	128182004	3	1	266	1	0	0	0	0	1	0	0	0	4626	1058	37	2	617	2	DNAJB8	3	128182004	Missense_Mutation	SNP	G	TCGA-J4-A67M-01A-11D-A30E-08		128182004	69840426	12	12455											
GP5	2814	broad.mit.edu	37	chr3	194118797	194118797	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ggcgctgcaggacggtcatgCcgctgaagctctggctctgc	5	8	15	13	3	3	1	1	1	2	0	3	2	3	2	1	4	4	5	1	4	1	0			TCGA-J4-A67M-01A-11D-A30E-08	TCGA-J4-A67M-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da36622f-b6d4-427f-b233-ed97fc76abc5	085bf8ec-1841-4a4b-81c2-3ea1da79c1ed	g.chr3:194118797C>T	ENST00000401815.1	-	1	286	c.215G>A	c.(214-216)gGc>gAc	p.G72D	GP5_ENST00000323007.3_Missense_Mutation_p.G72D			P40197	GPV_HUMAN	glycoprotein V (platelet)	72					blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|negative regulation of platelet activation (GO:0010544)|platelet activation (GO:0030168)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				breast(3)|central_nervous_system(2)|endometrium(2)|large_intestine(9)|lung(14)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	35	all_cancers(143;6.64e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	OV - Ovarian serous cystadenocarcinoma(49;7.38e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.06e-05)		GACGGTCATGCCGCTGAAGCT	0.632																																						ENST00000401815.1																			0				breast(3)|central_nervous_system(2)|endometrium(2)|large_intestine(9)|lung(14)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	35						c.(214-216)gGc>gAc		glycoprotein V (platelet)							55	55	55					3																	194118797		2202	4300	6502	SO:0001583	missense	2814				blood coagulation, intrinsic pathway|cell adhesion|platelet activation	integral to plasma membrane		g.chr3:194118797C>T	L11238	CCDS3307.1	3q29	2008-02-01			ENSG00000178732	ENSG00000178732		"CD molecules"	4443	protein-coding gene	gene with protein product		173511				7690959	Standard	NM_004488		Approved	CD42d	uc003ftv.1	P40197	OTTHUMG00000150345	ENST00000401815.1:c.215G>A	3.37:g.194118797C>T	ENSP00000383931:p.Gly72Asp					GP5_ENST00000323007.3_Missense_Mutation_p.G72D	p.G72D			P40197	GPV_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;7.38e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.06e-05)	1	286	-	all_cancers(143;6.64e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	72					D1MER9	Missense_Mutation	SNP	ENST00000401815.1	37	c.215G>A	CCDS3307.1	.	.	.	.	.	.	.	.	.	.	C	10.17	1.277812	0.23307	.	.	ENSG00000178732	ENST00000401815;ENST00000323007	D;D	0.91068	-2.78;-2.78	4.72	3.85	0.44370	.	0.378154	0.19435	N	0.114328	D	0.83949	0.5365	L	0.50333	1.59	0.32552	N	0.532272	B	0.29508	0.246	B	0.26094	0.066	T	0.79132	-0.1929	10	0.19147	T	0.46	.	5.2789	0.15665	0.0:0.5248:0.2315:0.2437	.	72	P40197	GPV_HUMAN	D	72	ENSP00000383931:G72D;ENSP00000319286:G72D	ENSP00000319286:G72D	G	-	2	0	GP5	195600086	0.013000	0.17824	0.935000	0.37517	0.340000	0.28889	0.811000	0.27198	1.292000	0.44672	0.561000	0.74099	GGC		0.632	GP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317710.1	NM_004488		4	137	0	0	0	1	0	4	137					T	194118797	C	T	194118797	3	4	266	1	0	0	0	0	1	0	0	0	6583	739	26	3	1471	3	GP5	3	194118797	Missense_Mutation	SNP	C	TCGA-J4-A67M-01A-11D-A30E-08	65936793	194118797	3903633	13	12456											
ZNF721	170960	broad.mit.edu	37	chr4	435941	435941	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctttccagtatgaattttcTcatgtctattcaggtgtgag	8	18	8	7	0	4	2	2	2	3	0	6	2	5	2	1	1	0	1	1	1	3	6			TCGA-J4-A67M-01A-11D-A30E-08	TCGA-J4-A67M-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da36622f-b6d4-427f-b233-ed97fc76abc5	085bf8ec-1841-4a4b-81c2-3ea1da79c1ed	g.chr4:435941T>A	ENST00000338977.5	-	2	2327	c.2279A>T	c.(2278-2280)gAg>gTg	p.E760V	ZNF721_ENST00000507078.1_Intron|ABCA11P_ENST00000451020.2_RNA|ZNF721_ENST00000506646.1_Intron|ZNF721_ENST00000511833.2_Missense_Mutation_p.E772V			Q8TF20	ZN721_HUMAN	zinc finger protein 721	760					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(2)|kidney(2)|large_intestine(15)|lung(6)|ovary(1)|skin(1)|stomach(5)|urinary_tract(1)	33						ATGAATTTTCTCATGTCTATT	0.353																																						ENST00000338977.5																			0				endometrium(2)|kidney(2)|large_intestine(15)|lung(6)|ovary(1)|skin(1)|stomach(5)|urinary_tract(1)	33						c.(2278-2280)gAg>gTg		zinc finger protein 721							42	44	43					4																	435941		2064	4223	6287	SO:0001583	missense	170960							g.chr4:435941T>A	AK092362	CCDS46991.1	4p16.3	2013-01-08			ENSG00000182903	ENSG00000182903		"Zinc fingers, C2H2-type", "-"	29425	protein-coding gene	gene with protein product						11853319	Standard	NM_133474		Approved	KIAA1982	uc003gag.4	Q8TF20		ENST00000338977.5:c.2279A>T	4.37:g.435941T>A	ENSP00000340524:p.Glu760Val					ZNF721_ENST00000511833.2_Missense_Mutation_p.E772V|ABCA11P_ENST00000451020.2_RNA|ZNF721_ENST00000506646.1_Intron|ZNF721_ENST00000507078.1_Intron	p.E760V							2	2327	-								Q69YG7	Missense_Mutation	SNP	ENST00000338977.5	37	c.2279A>T		.	.	.	.	.	.	.	.	.	.	T	11.39	1.623638	0.28889	.	.	ENSG00000182903	ENST00000338977;ENST00000511833	T;T	0.06528	3.29;3.29	1.28	1.28	0.21552	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.12050	0.0293	L	0.33245	0.995	0.09310	N	1	P;P;P	0.48407	0.91;0.862;0.833	D;P;P	0.65140	0.932;0.587;0.451	T	0.18209	-1.0344	9	0.59425	D	0.04	.	6.3325	0.21279	0.0:0.0:0.0:1.0	.	760;772;772	Q8TF20;D9N162;Q8TF20-2	ZN721_HUMAN;.;.	V	760;772	ENSP00000340524:E760V;ENSP00000428878:E772V	ENSP00000340524:E760V	E	-	2	0	ZNF721	425941	0.000000	0.05858	0.001000	0.08648	0.080000	0.17528	0.102000	0.15272	0.561000	0.29186	0.155000	0.16302	GAG		0.353	ZNF721-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000357939.1	NM_133474		6	24	0	0	0	1	0	6	24					A	435941	T	A	435941	3	1	266	1	0	0	0	0	1	0	0	0	18119	1551	54	5	460	5	ZNF721	4	435941	Missense_Mutation	SNP	T	TCGA-J4-A67M-01A-11D-A30E-08		435941	190718335	14	12457											
LPHN3	23284	broad.mit.edu	37	chr4	62903476	62903476	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aagagtatgggaaatgcctgCgaacacattgctgtagtggc	12	9	13	7	1	0	1	0	0	0	1	0	3	0	2	1	2	4	3	1	2	5	3			TCGA-J4-A67M-01A-11D-A30E-08	TCGA-J4-A67M-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da36622f-b6d4-427f-b233-ed97fc76abc5	085bf8ec-1841-4a4b-81c2-3ea1da79c1ed	g.chr4:62903476C>T	ENST00000514591.1	+	23	3744	c.3415C>T	c.(3415-3417)Cga>Tga	p.R1139*	LPHN3_ENST00000508946.1_Nonsense_Mutation_p.R1139*|LPHN3_ENST00000545650.1_Nonsense_Mutation_p.R1139*|LPHN3_ENST00000511324.1_Nonsense_Mutation_p.R1198*|LPHN3_ENST00000514157.1_Nonsense_Mutation_p.R1130*|LPHN3_ENST00000512091.2_Nonsense_Mutation_p.R1139*|LPHN3_ENST00000507625.1_Nonsense_Mutation_p.R1198*|LPHN3_ENST00000514996.1_Nonsense_Mutation_p.R1130*|LPHN3_ENST00000504896.1_Nonsense_Mutation_p.R1139*|LPHN3_ENST00000508693.1_Nonsense_Mutation_p.R1207*|LPHN3_ENST00000506720.1_Nonsense_Mutation_p.R1207*|LPHN3_ENST00000506746.1_Nonsense_Mutation_p.R1198*|LPHN3_ENST00000509896.1_Nonsense_Mutation_p.R1207*|LPHN3_ENST00000506700.1_Nonsense_Mutation_p.R1130*|LPHN3_ENST00000507164.1_Nonsense_Mutation_p.R1198*			Q9HAR2	LPHN3_HUMAN	latrophilin 3	1117					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|G-protein coupled receptor activity (GO:0004930)			breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						GAAATGCCTGCGAACACATTG	0.423																																						ENST00000512091.1																			0				breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						c.(3415-3417)Cga>Tga		latrophilin 3							139	139	139					4																	62903476		1939	4159	6098	SO:0001587	stop_gained	23284				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding	g.chr4:62903476C>T	AB018311	CCDS54768.1	4q13.1	2014-08-08				ENSG00000150471		"-", "GPCR / Class B : Orphans"	20974	protein-coding gene	gene with protein product						10994649	Standard	NM_015236		Approved	KIAA0768, LEC3	uc010ihh.3	Q9HAR2		ENST00000514591.1:c.3415C>T	4.37:g.62903476C>T	ENSP00000422533:p.Arg1139*					LPHN3_ENST00000507164.1_Nonsense_Mutation_p.R1198*|LPHN3_ENST00000514157.1_Nonsense_Mutation_p.R1130*|LPHN3_ENST00000511324.1_Nonsense_Mutation_p.R1198*|LPHN3_ENST00000504896.1_Nonsense_Mutation_p.R1139*|LPHN3_ENST00000545650.1_Nonsense_Mutation_p.R1139*|LPHN3_ENST00000506700.1_Nonsense_Mutation_p.R1130*|LPHN3_ENST00000506720.1_Nonsense_Mutation_p.R1207*|LPHN3_ENST00000506746.1_Nonsense_Mutation_p.R1198*|LPHN3_ENST00000509896.1_Nonsense_Mutation_p.R1207*|LPHN3_ENST00000508946.1_Nonsense_Mutation_p.R1139*|LPHN3_ENST00000508693.1_Nonsense_Mutation_p.R1207*|LPHN3_ENST00000514996.1_Nonsense_Mutation_p.R1130*|LPHN3_ENST00000507625.1_Nonsense_Mutation_p.R1198*|LPHN3_ENST00000514591.1_Nonsense_Mutation_p.R1139*	p.R1139*			Q9HAR2	LPHN3_HUMAN			23	4162	+			1117					E9PE04|O94867|Q9NWK5	Nonsense_Mutation	SNP	ENST00000514591.1	37	c.3415C>T	CCDS54768.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	43|43	10.191525|10.191525	0.99355|0.99355	.|.	.|.	ENSG00000150471|ENSG00000150471	ENST00000502815|ENST00000512091;ENST00000514591;ENST00000509896;ENST00000511324;ENST00000506700;ENST00000545650;ENST00000295349;ENST00000280009;ENST00000507164;ENST00000508693;ENST00000507625;ENST00000514157;ENST00000504896;ENST00000508946;ENST00000506720;ENST00000506746;ENST00000514996	.|.	.|.	.|.	5.33|5.33	4.48|4.48	0.54585|0.54585	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|.	0.37156|.	0.0993|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.34329|.	-0.9833|.	3|.	.|0.02654	.|T	.|1	.|.	15.7043|15.7043	0.77565|0.77565	0.138:0.862:0.0:0.0|0.138:0.862:0.0:0.0	.|.	.|.	.|.	.|.	V|X	587|1139;1139;1207;1198;1130;1139;1117;1139;1198;1207;1198;1130;1139;1139;1207;1198;1130	.|.	.|ENSP00000280009:R1139X	A|R	+|+	2|1	0|2	LPHN3|LPHN3	62586071|62586071	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.940000|0.940000	0.58332|0.58332	3.728000|3.728000	0.54991|0.54991	1.356000|1.356000	0.45884|0.45884	0.650000|0.650000	0.86243|0.86243	GCG|CGA		0.423	LPHN3-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000361765.1			7	84	0	0	0	1	0	7	84					T	62903476	C	T	62903476	4	4	266	1	0	0	0	0	0	1	0	0	8917	760	27	1	3497	1	LPHN3	4	62903476	Nonsense_Mutation	SNP	C	TCGA-J4-A67M-01A-11D-A30E-08	62467535	62903476	128250800	15	12458											
HCN1	348980	broad.mit.edu	37	chr5	45262467	45262467	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctgtggctgagtctgcggCggctgggactgctgtacctg	3	11	17	10	2	1	1	0	1	1	0	1	2	1	2	1	4	4	5	1	4	1	1	rs143994644		TCGA-J4-A67M-01A-11D-A30E-08	TCGA-J4-A67M-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da36622f-b6d4-427f-b233-ed97fc76abc5	085bf8ec-1841-4a4b-81c2-3ea1da79c1ed	g.chr5:45262467C>T	ENST00000303230.4	-	8	2286	c.2229G>A	c.(2227-2229)ccG>ccA	p.P743P		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	743	Gln-rich.				apical protein localization (GO:0045176)|cellular response to cAMP (GO:0071320)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|retinal cone cell development (GO:0046549)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|intracellular cAMP activated cation channel activity (GO:0005222)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated sodium channel activity (GO:0005248)	p.P743P(1)		NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						gagtctgcggcggctgggact	0.637																																						ENST00000303230.4																			1	Substitution - coding silent(1)	p.P743P(1)	lung(1)	NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						c.(2227-2229)ccG>ccA		hyperpolarization activated cyclic nucleotide-gated potassium channel 1							32	34	33					5																	45262467		2203	4299	6502	SO:0001819	synonymous_variant	348980					integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity	g.chr5:45262467C>T	AF064876	CCDS3952.1	5p12	2011-07-05			ENSG00000164588	ENSG00000164588		"Voltage-gated ion channels / Cyclic nucleotide-regulated channels"	4845	protein-coding gene	gene with protein product		602780		BCNG1		9405696, 9630217, 16382102	Standard	NM_021072		Approved	BCNG-1, HAC-2	uc003jok.3	O60741	OTTHUMG00000131155	ENST00000303230.4:c.2229G>A	5.37:g.45262467C>T							p.P743P	NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN			8	2286	-			743			Gln-rich.			Silent	SNP	ENST00000303230.4	37	c.2229G>A	CCDS3952.1																																																																																				0.637	HCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253847.1	NM_021072		9	66	0	0	0	1	0	9	66					T	45262467	C	T	45262467	2	4	266	1	0	0	0	0	0	0	0	1	6996	755	27	1		1	HCN1	5	45262467	Silent	SNP	C	TCGA-J4-A67M-01A-11D-A30E-08		45262467	135652793	16	12459											
HMGCR	3156	broad.mit.edu	37	chr5	74641424	74641424	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctttgccctttttcctacttTtgattgacctttccagagca	6	18	5	12	0	0	3	0	2	0	1	2	3	2	3	4	0	3	1	4	0	1	8			TCGA-J4-A67M-01A-11D-A30E-08	TCGA-J4-A67M-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da36622f-b6d4-427f-b233-ed97fc76abc5	085bf8ec-1841-4a4b-81c2-3ea1da79c1ed	g.chr5:74641424T>C	ENST00000287936.4	+	5	547	c.391T>C	c.(391-393)Ttg>Ctg	p.L131L	HMGCR_ENST00000511206.1_Silent_p.L131L|HMGCR_ENST00000343975.5_Silent_p.L131L	NM_000859.2	NP_000850.1	P04035	HMDH_HUMAN	3-hydroxy-3-methylglutaryl-CoA reductase	131	SSD. {ECO:0000255|PROSITE- ProRule:PRU00199}.				aging (GO:0007568)|cellular lipid metabolic process (GO:0044255)|cholesterol biosynthetic process (GO:0006695)|coenzyme A metabolic process (GO:0015936)|isoprenoid biosynthetic process (GO:0008299)|myoblast differentiation (GO:0045445)|negative regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061179)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of striated muscle cell apoptotic process (GO:0010664)|negative regulation of vasodilation (GO:0045908)|negative regulation of wound healing (GO:0061045)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of skeletal muscle tissue development (GO:0048643)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein tetramerization (GO:0051262)|response to ethanol (GO:0045471)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)|ubiquinone metabolic process (GO:0006743)|visual learning (GO:0008542)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|peroxisomal membrane (GO:0005778)	coenzyme binding (GO:0050662)|hydroxymethylglutaryl-CoA reductase (NADPH) activity (GO:0004420)|hydroxymethylglutaryl-CoA reductase activity (GO:0042282)|NADPH binding (GO:0070402)			breast(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	20		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Prostate(461;0.174)		OV - Ovarian serous cystadenocarcinoma(47;2.24e-54)	Atorvastatin(DB01076)|Fluvastatin(DB01095)|Lovastatin(DB00227)|Pitavastatin(DB08860)|Pravastatin(DB00175)|Rosuvastatin(DB01098)|Simvastatin(DB00641)	TTTCCTACTTTTGATTGACCT	0.318																																						ENST00000287936.4																			0				breast(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	20						c.(391-393)Ttg>Ctg		3-hydroxy-3-methylglutaryl-CoA reductase	Atorvastatin(DB01076)|Bezafibrate(DB01393)|Cerivastatin(DB00439)|Fluvastatin(DB01095)|Lovastatin(DB00227)|NADH(DB00157)|Pravastatin(DB00175)|Rosuvastatin(DB01098)|Simvastatin(DB00641)						106	103	104					5																	74641424		2203	4300	6503	SO:0001819	synonymous_variant	3156				cholesterol biosynthetic process|coenzyme A metabolic process|germ cell migration|gonad development|isoprenoid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|peroxisomal membrane	hydroxymethylglutaryl-CoA reductase (NADPH) activity|NADP binding	g.chr5:74641424T>C		CCDS4027.1, CCDS47234.1	5q13.3-q14	2012-10-02	2010-04-30		ENSG00000113161	ENSG00000113161	1.1.1.88, 1.1.1.34		5006	protein-coding gene	gene with protein product	"hydroxymethylglutaryl-CoA reductase", "3-hydroxy-3-methylglutaryl CoA reductase (NADPH)"	142910	"3-hydroxy-3-methylglutaryl-Coenzyme A reductase"				Standard	NM_000859		Approved		uc003kdp.3	P04035	OTTHUMG00000102069	ENST00000287936.4:c.391T>C	5.37:g.74641424T>C						HMGCR_ENST00000343975.5_Silent_p.L131L|HMGCR_ENST00000511206.1_Silent_p.L131L	p.L131L	NM_000859.2	NP_000850.1	P04035	HMDH_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;2.24e-54)	5	547	+		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Prostate(461;0.174)	131					B7Z3Y9|Q8N190	Silent	SNP	ENST00000287936.4	37	c.391T>C	CCDS4027.1																																																																																				0.318	HMGCR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219877.2			8	60	0	0	0	1	0	8	60					C	74641424	T	C	74641424	2	2	266	1	0	0	0	0	0	0	0	1	7231	1838	64	4		4	HMGCR	5	74641424	Silent	SNP	T	TCGA-J4-A67M-01A-11D-A30E-08	29378957	74641424	106273836	17	12460											
SLCO6A1	133482	broad.mit.edu	37	chr5	101795412	101795412	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	attaatgtacaccatgcaacGacagcggcaaaaagaaaatt	19	7	7	8	2	0	1	0	0	0	1	0	2	0	1	1	1	4	3	1	1	7	3			TCGA-J4-A67M-01A-11D-A30E-08	TCGA-J4-A67M-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da36622f-b6d4-427f-b233-ed97fc76abc5	085bf8ec-1841-4a4b-81c2-3ea1da79c1ed	g.chr5:101795412G>A	ENST00000506729.1	-	5	1140	c.969C>T	c.(967-969)gtC>gtT	p.V323V	SLCO6A1_ENST00000379810.1_Intron|SLCO6A1_ENST00000513675.1_Intron|SLCO6A1_ENST00000514551.1_5'UTR|SLCO6A1_ENST00000389019.3_Silent_p.V261V|SLCO6A1_ENST00000379807.3_Silent_p.V323V			Q86UG4	SO6A1_HUMAN	solute carrier organic anion transporter family, member 6A1	323						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(17)|lung(22)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	60		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)		ACCATGCAACGACAGCGGCAA	0.338																																						ENST00000506729.1																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(17)|lung(22)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						c.(967-969)gtC>gtT		solute carrier organic anion transporter family, member 6A1							109	104	106					5																	101795412		2203	4300	6503	SO:0001819	synonymous_variant	133482					integral to membrane|plasma membrane	transporter activity	g.chr5:101795412G>A	AF505657	CCDS34206.1, CCDS75282.1	5q21.2	2013-05-22			ENSG00000205359	ENSG00000205359		"Solute carriers"	23613	protein-coding gene	gene with protein product	"cancer/testis antigen 48"	613365					Standard	XM_005271874		Approved	OATP6A1, OATPY, MGC26949, CT48	uc003knp.3	Q86UG4	OTTHUMG00000162759	ENST00000506729.1:c.969C>T	5.37:g.101795412G>A						SLCO6A1_ENST00000514551.1_5'UTR|SLCO6A1_ENST00000389019.3_Silent_p.V261V|SLCO6A1_ENST00000379810.1_Intron|SLCO6A1_ENST00000379807.3_Silent_p.V323V|SLCO6A1_ENST00000513675.1_Intron	p.V323V			Q86UG4	SO6A1_HUMAN		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)	5	1140	-		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)	323					A6NHC1|Q6ZMY5|Q86UV2|Q8IYU5	Silent	SNP	ENST00000506729.1	37	c.969C>T	CCDS34206.1																																																																																				0.338	SLCO6A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370335.1	NM_173488		12	53	0	0	0	1	0	12	53					A	101795412	G	A	101795412	2	1	266	1	0	0	0	0	0	0	0	1	14732	1045	37	2		2	SLCO6A1	5	101795412	Silent	SNP	G	TCGA-J4-A67M-01A-11D-A30E-08	27153988	101795412	79119848	18	12461											
GRIA1	2890	broad.mit.edu	37	chr5	153144022	153144022	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggtcgcatcgttggtggcGtctggtggttcttcacctta	3	15	13	10	3	3	0	1	0	2	0	5	0	3	0	1	5	0	3	1	5	1	4			TCGA-J4-A67M-01A-11D-A30E-08	TCGA-J4-A67M-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da36622f-b6d4-427f-b233-ed97fc76abc5	085bf8ec-1841-4a4b-81c2-3ea1da79c1ed	g.chr5:153144022G>A	ENST00000285900.5	+	12	2195	c.1852G>A	c.(1852-1854)Gtc>Atc	p.V618I	GRIA1_ENST00000521843.2_Missense_Mutation_p.V549I|GRIA1_ENST00000518142.1_Missense_Mutation_p.V538I|GRIA1_ENST00000448073.4_Missense_Mutation_p.V628I|GRIA1_ENST00000340592.5_Missense_Mutation_p.V618I|GRIA1_ENST00000518783.1_Missense_Mutation_p.V628I	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1	618					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|long-term memory (GO:0007616)|receptor internalization (GO:0031623)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|axonal spine (GO:0044308)|cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|dendrite membrane (GO:0032590)|dendritic spine (GO:0043197)|endocytic vesicle membrane (GO:0030666)|endoplasmic reticulum (GO:0005783)|neuron spine (GO:0044309)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|PDZ domain binding (GO:0030165)	p.V618I(1)		NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Perampanel(DB08883)|Sevoflurane(DB01236)	CGTTGGTGGCGTCTGGTGGTT	0.552																																						ENST00000285900.5																			1	Substitution - Missense(1)	p.V618I(1)	prostate(1)	NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81						c.(1852-1854)Gtc>Atc		glutamate receptor, ionotropic, AMPA 1	Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)						137	113	121					5																	153144022		2203	4300	6503	SO:0001583	missense	0				synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding	g.chr5:153144022G>A		CCDS4322.1, CCDS47318.1, CCDS58986.1, CCDS58987.1, CCDS58988.1, CCDS58989.1	5q33	2012-08-29			ENSG00000155511	ENSG00000155511		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4571	protein-coding gene	gene with protein product		138248		GLUR1		1652753, 1319477	Standard	NM_000827		Approved	GluA1, GLURA	uc011dcy.2	P42261	OTTHUMG00000130148	ENST00000285900.5:c.1852G>A	5.37:g.153144022G>A	ENSP00000285900:p.Val618Ile					GRIA1_ENST00000521843.2_Missense_Mutation_p.V549I|GRIA1_ENST00000340592.5_Missense_Mutation_p.V618I|GRIA1_ENST00000518142.1_Missense_Mutation_p.V538I|GRIA1_ENST00000448073.4_Missense_Mutation_p.V628I|GRIA1_ENST00000518783.1_Missense_Mutation_p.V628I	p.V618I	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		12	2195	+		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	618					B7Z2S0|B7Z2W8|B7Z3F6|B7Z9G9|D3DQI4|E7ESV8|Q2NKM6	Missense_Mutation	SNP	ENST00000285900.5	37	c.1852G>A	CCDS4322.1	.	.	.	.	.	.	.	.	.	.	G	24.1	4.495597	0.85069	.	.	ENSG00000155511	ENST00000285900;ENST00000544403;ENST00000518142;ENST00000537037;ENST00000340592;ENST00000521843;ENST00000544794;ENST00000518783;ENST00000448073	T;T;T;D;T;T;T	0.97480	1.91;1.91;1.91;-4.4;1.91;1.91;1.91	5.26	5.26	0.73747	Ionotropic glutamate receptor (2);	0.000000	0.85682	D	0.000000	D	0.96870	0.8978	L	0.35487	1.065	0.80722	D	1	D;D;P;D;D	0.89917	1.0;1.0;0.937;0.999;0.997	D;D;P;D;D	0.83275	0.996;0.996;0.693;0.993;0.95	D	0.94909	0.8063	10	0.10636	T	0.68	.	17.8377	0.88704	0.0:0.0:1.0:0.0	.	628;628;538;618;618	E7ESV8;B7Z9G9;B7Z3F6;P42261-2;P42261	.;.;.;.;GRIA1_HUMAN	I	618;618;538;572;618;551;549;628;628	ENSP00000285900:V618I;ENSP00000427920:V538I;ENSP00000339343:V618I;ENSP00000427864:V551I;ENSP00000442108:V549I;ENSP00000428994:V628I;ENSP00000415569:V628I	ENSP00000285900:V618I	V	+	1	0	GRIA1	153124215	1.000000	0.71417	0.995000	0.50966	0.921000	0.55340	9.632000	0.98428	2.443000	0.82685	0.555000	0.69702	GTC		0.552	GRIA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252456.3			21	57	0	0	0	1	0	21	57					A	153144022	G	A	153144022	3	1	266	1	0	0	0	0	1	0	0	0	6767	1145	40	1	1898	1	GRIA1	5	153144022	Missense_Mutation	SNP	G	TCGA-J4-A67M-01A-11D-A30E-08	51348610	153144022	27771238	19	12462											
SYNE1	23345	broad.mit.edu	37	chr6	152776617	152776617	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttcctccaggccctcctgagCaatccgcagtaccttctcca	7	10	6	18	1	1	1	0	1	1	0	6	1	5	1	7	1	2	3	7	1	2	3			TCGA-J4-A67M-01A-11D-A30E-08	TCGA-J4-A67M-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da36622f-b6d4-427f-b233-ed97fc76abc5	085bf8ec-1841-4a4b-81c2-3ea1da79c1ed	g.chr6:152776617C>A	ENST00000367255.5	-	24	3437	c.2836G>T	c.(2836-2838)Gct>Tct	p.A946S	SYNE1_ENST00000341594.5_Missense_Mutation_p.A1012S|SYNE1_ENST00000413186.2_Missense_Mutation_p.A946S|SYNE1_ENST00000367248.3_Missense_Mutation_p.A936S|SYNE1_ENST00000448038.1_Missense_Mutation_p.A953S|SYNE1_ENST00000495090.2_Missense_Mutation_p.A513S|SYNE1_ENST00000423061.1_Missense_Mutation_p.A953S|SYNE1_ENST00000265368.4_Missense_Mutation_p.A946S|SYNE1_ENST00000367253.4_Missense_Mutation_p.A946S	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	946					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CCCTCCTGAGCAATCCGCAGT	0.512										HNSCC(10;0.0054)																												ENST00000367255.5																			0				NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524						c.(2836-2838)Gct>Tct		spectrin repeat containing, nuclear envelope 1							109	104	106					6																	152776617		2203	4300	6503	SO:0001583	missense	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152776617C>A	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"myocyte nuclear envelope protein 1", "nuclear envelope spectrin repeat-1"	608441	"chromosome 6 open reading frame 98"	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.2836G>T	6.37:g.152776617C>A	ENSP00000356224:p.Ala946Ser	HNSCC(10;0.0054)				SYNE1_ENST00000413186.2_Missense_Mutation_p.A946S|SYNE1_ENST00000341594.5_Missense_Mutation_p.A1012S|SYNE1_ENST00000423061.1_Missense_Mutation_p.A953S|SYNE1_ENST00000367248.3_Missense_Mutation_p.A936S|SYNE1_ENST00000367253.4_Missense_Mutation_p.A946S|SYNE1_ENST00000265368.4_Missense_Mutation_p.A946S|SYNE1_ENST00000495090.2_Missense_Mutation_p.A513S|SYNE1_ENST00000448038.1_Missense_Mutation_p.A953S	p.A946S	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	24	3437	-		Ovarian(120;0.0955)	946					E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	c.2836G>T	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	C	35	5.459694	0.96240	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000367253;ENST00000367248;ENST00000413186;ENST00000495090	T;T;T;T;T;T;T;T;T	0.37584	1.19;1.19;1.19;1.19;1.19;1.19;1.19;1.19;1.19	5.48	5.48	0.80851	.	0.000000	0.56097	D	0.000032	T	0.50171	0.1600	M	0.68952	2.095	0.80722	D	1	D;P;D;D;D;P;D	0.89917	0.999;0.941;0.965;0.984;1.0;0.941;0.965	D;P;P;P;D;P;P	0.91635	0.945;0.493;0.69;0.753;0.999;0.493;0.69	T	0.30679	-0.9970	10	0.21540	T	0.41	.	19.3456	0.94361	0.0:1.0:0.0:0.0	.	929;946;513;936;946;946;953	B3W695;Q8NF91;F5H422;F5GXQ8;Q8NF91-6;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.;.;.;.	S	946;953;946;953;1012;946;936;946;513	ENSP00000356224:A946S;ENSP00000396024:A953S;ENSP00000265368:A946S;ENSP00000390975:A953S;ENSP00000341887:A1012S;ENSP00000356222:A946S;ENSP00000356217:A936S;ENSP00000414510:A946S;ENSP00000438508:A513S	ENSP00000265368:A946S	A	-	1	0	SYNE1	152818310	1.000000	0.71417	0.685000	0.30070	0.972000	0.66771	7.433000	0.80362	2.559000	0.86315	0.655000	0.94253	GCT		0.512	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		16	76	1	0	0.000308642	1	0.000318287	16	76					A	152776617	C	A	152776617	3	1	266	1	0	0	0	0	1	0	0	0	15442	710	25	5	24122	5	SYNE1	6	152776617	Missense_Mutation	SNP	C	TCGA-J4-A67M-01A-11D-A30E-08		152776617	18338450	20	12463											
ABCB1	5243	broad.mit.edu	37	chr7	87165839	87165839	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tccagtggtgtttttagggtCatcaaaccaactcacatcct	10	13	7	11	0	3	0	3	0	0	0	5	0	5	0	3	2	2	1	3	2	3	3			TCGA-J4-A67M-01A-11D-A30E-08	TCGA-J4-A67M-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da36622f-b6d4-427f-b233-ed97fc76abc5	085bf8ec-1841-4a4b-81c2-3ea1da79c1ed	g.chr7:87165839C>T	ENST00000265724.3	-	21	2833	c.2416G>A	c.(2416-2418)Gac>Aac	p.D806N	ABCB1_ENST00000543898.1_Missense_Mutation_p.D742N	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 1	806	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.				drug transmembrane transport (GO:0006855)|G2/M transition of mitotic cell cycle (GO:0000086)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|stem cell proliferation (GO:0072089)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)|xenobiotic-transporting ATPase activity (GO:0008559)			NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111	Esophageal squamous(14;0.00164)				Acebutolol(DB01193)|Acetaminophen(DB00316)|Acetylsalicylic acid(DB00945)|Adenosine triphosphate(DB00171)|ado-trastuzumab emtansine(DB05773)|Afatinib(DB08916)|Albendazole(DB00518)|Alfentanil(DB00802)|Alitretinoin(DB00523)|Amantadine(DB00915)|Aminohippurate(DB00345)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amprenavir(DB00701)|Amsacrine(DB00276)|Apixaban(DB06605)|Arsenic trioxide(DB01169)|Astemizole(DB00637)|Atazanavir(DB01072)|Atenolol(DB00335)|Atorvastatin(DB01076)|Axitinib(DB06626)|Azelastine(DB00972)|Azithromycin(DB00207)|Benzocaine(DB01086)|Bepridil(DB01244)|Betamethasone(DB00443)|Biperiden(DB00810)|Boceprevir(DB08873)|Bosutinib(DB06616)|Brentuximab vedotin(DB08870)|Bromocriptine(DB01200)|Buprenorphine(DB00921)|Buspirone(DB00490)|Cabazitaxel(DB06772)|Caffeine(DB00201)|Canagliflozin(DB08907)|Candesartan(DB00796)|Captopril(DB01197)|Carbamazepine(DB00564)|Carfilzomib(DB08889)|Carvedilol(DB01136)|Caspofungin(DB00520)|Chloroquine(DB00608)|Chlorpromazine(DB00477)|Chlorpropamide(DB00672)|Chlorprothixene(DB01239)|Cilazapril(DB01340)|Cimetidine(DB00501)|Ciprofloxacin(DB00537)|Cisplatin(DB00515)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Clofazimine(DB00845)|Clomifene(DB00882)|Clomipramine(DB01242)|Clonidine(DB00575)|Clopidogrel(DB00758)|Clotrimazole(DB00257)|Clozapine(DB00363)|Colchicine(DB01394)|Conjugated Estrogens(DB00286)|Crizotinib(DB08865)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dabigatran etexilate(DB06695)|Dabrafenib(DB08912)|Dactinomycin(DB00970)|Dapagliflozin(DB06292)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Debrisoquin(DB04840)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexamethasone(DB01234)|Dextromethorphan(DB00514)|Diazepam(DB00829)|Diclofenac(DB00586)|Diethylstilbestrol(DB00255)|Digitoxin(DB01396)|Digoxin(DB00390)|Dihydroergotamine(DB00320)|Diltiazem(DB00343)|Dipyridamole(DB00975)|Docetaxel(DB01248)|Domperidone(DB01184)|Doxazosin(DB00590)|Doxepin(DB01142)|Doxorubicin(DB00997)|Dronabinol(DB00470)|Dronedarone(DB04855)|Eletriptan(DB00216)|Enalapril(DB00584)|Enzalutamide(DB08899)|Epinastine(DB00751)|Ergonovine(DB01253)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estrone(DB00655)|Ethinyl Estradiol(DB00977)|Etoposide(DB00773)|Etravirine(DB06414)|Ezetimibe(DB00973)|Felodipine(DB01023)|Fentanyl(DB00813)|Fesoterodine(DB06702)|Fexofenadine(DB00950)|Fidaxomicin(DB08874)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flupentixol(DB00875)|Fluphenazine(DB00623)|Flurazepam(DB00690)|Fluticasone furoate(DB08906)|Fluvoxamine(DB00176)|Gefitinib(DB00317)|Gemcitabine(DB00441)|Glyburide(DB01016)|Gramicidin D(DB00027)|Haloperidol(DB00502)|Hydrocortisone(DB00741)|Ibuprofen(DB01050)|Imatinib(DB00619)|Imipramine(DB00458)|Indacaterol(DB05039)|Indinavir(DB00224)|Indomethacin(DB00328)|Irinotecan(DB00762)|Itraconazole(DB01167)|Ivacaftor(DB08820)|Ivermectin(DB00602)|Ketamine(DB01221)|Ketazolam(DB01587)|Ketoconazole(DB01026)|Lamivudine(DB00709)|Lamotrigine(DB00555)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Lenalidomide(DB00480)|Levetiracetam(DB01202)|Levofloxacin(DB01137)|Levomilnacipran(DB08918)|Levothyroxine(DB00451)|Lidocaine(DB00281)|Linagliptin(DB08882)|Liothyronine(DB00279)|Liotrix(DB01583)|Lisinopril(DB00722)|Lomitapide(DB08827)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Losartan(DB00678)|Lovastatin(DB00227)|Mannitol(DB00742)|Maprotiline(DB00934)|Mebendazole(DB00643)|Mefloquine(DB00358)|Megestrol acetate(DB00351)|Meprobamate(DB00371)|Methadone(DB00333)|Methotrexate(DB00563)|Methylprednisolone(DB00959)|Metoprolol(DB00264)|Miconazole(DB01110)|Midazolam(DB00683)|Mifepristone(DB00834)|Mirabegron(DB08893)|Mitomycin(DB00305)|Mitoxantrone(DB01204)|Morphine(DB00295)|Mycophenolate mofetil(DB00688)|Nadolol(DB01203)|Naloxone(DB01183)|Naltrexone(DB00704)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Neostigmine(DB01400)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nisoldipine(DB00401)|Nitrazepam(DB01595)|Nitrendipine(DB01054)|Nizatidine(DB00585)|Norethindrone(DB00717)|Olanzapine(DB00334)|Omeprazole(DB00338)|Paclitaxel(DB01229)|Pantoprazole(DB00213)|Paroxetine(DB00715)|Pazopanib(DB06589)|Perindopril(DB00790)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Pimozide(DB01100)|Pitavastatin(DB08860)|Pomalidomide(DB08910)|Ponatinib(DB08901)|Posaconazole(DB01263)|Pravastatin(DB00175)|Prazosin(DB00457)|Prednisolone(DB00860)|Prednisone(DB00635)|Probenecid(DB01032)|Progesterone(DB00396)|Promethazine(DB01069)|Propafenone(DB01182)|Propranolol(DB00571)|Protriptyline(DB00344)|Quetiapine(DB01224)|Quinacrine(DB01103)|Quinidine(DB00908)|Quinine(DB00468)|Ranitidine(DB00863)|Reboxetine(DB00234)|Regorafenib(DB08896)|Reserpine(DB00206)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Risperidone(DB00734)|Ritonavir(DB00503)|Rivaroxaban(DB06228)|Roxithromycin(DB00778)|Salicylic acid(DB00936)|Saquinavir(DB01232)|Scopolamine(DB00747)|Selegiline(DB01037)|Sertraline(DB01104)|Silodosin(DB06207)|SIMEPREVIR(DB06290)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sitagliptin(DB01261)|SOFOSBUVIR(DB08934)|Sorafenib(DB00398)|Sparfloxacin(DB01208)|Spironolactone(DB00421)|Streptozocin(DB00428)|Sulfinpyrazone(DB01138)|Sumatriptan(DB00669)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tamoxifen(DB00675)|Telaprevir(DB05521)|Telmisartan(DB00966)|Temsirolimus(DB06287)|Terazosin(DB01162)|Testosterone(DB00624)|Ticagrelor(DB08816)|Timolol(DB00373)|Tolvaptan(DB06212)|Topotecan(DB01030)|Toremifene(DB00539)|Trazodone(DB00656)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Trimethoprim(DB00440)|Trimipramine(DB00726)|Troleandomycin(DB01361)|Vecuronium(DB01339)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)|Vinorelbine(DB00361)|Vismodegib(DB08828)|Voacamine(DB04877)|Zidovudine(DB00495)	TTTTTAGGGTCATCAAACCAA	0.453																																						ENST00000265724.3																			0				NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111						c.(2416-2418)Gac>Aac		ATP-binding cassette, sub-family B (MDR/TAP), member 1	Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570)						148	133	138					7																	87165839		2203	4300	6503	SO:0001583	missense	5243				G2/M transition of mitotic cell cycle|stem cell proliferation	apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction	ATP binding|protein binding|xenobiotic-transporting ATPase activity	g.chr7:87165839C>T	M14758	CCDS5608.1	7q21.12	2012-03-14	2004-05-12		ENSG00000085563	ENSG00000085563		"CD molecules", "ATP binding cassette transporters / subfamily B"	40	protein-coding gene	gene with protein product	"multidrug resistance protein 1"	171050	"colchicin sensitivity"	PGY1, MDR1, CLCS		3027054	Standard	NM_000927		Approved	P-gp, CD243, GP170, ABC20	uc003uiz.2	P08183	OTTHUMG00000023393	ENST00000265724.3:c.2416G>A	7.37:g.87165839C>T	ENSP00000265724:p.Asp806Asn					ABCB1_ENST00000543898.1_Missense_Mutation_p.D742N	p.D806N	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN			21	2833	-	Esophageal squamous(14;0.00164)		806			ABC transmembrane type-1 2.		A8K294|B5AK60|Q12755|Q14812	Missense_Mutation	SNP	ENST00000265724.3	37	c.2416G>A	CCDS5608.1	.	.	.	.	.	.	.	.	.	.	C	14.34	2.505810	0.44558	.	.	ENSG00000085563	ENST00000543174;ENST00000265724;ENST00000543898	D;D	0.89415	-2.51;-2.51	5.64	2.89	0.33648	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.271192	0.40302	N	0.001125	D	0.86464	0.5939	L	0.56396	1.775	0.50632	D	0.999887	B;B	0.21225	0.006;0.053	B;B	0.28849	0.014;0.095	T	0.81123	-0.1076	10	0.52906	T	0.07	-12.6309	10.5519	0.45095	0.0:0.7342:0.0:0.2658	.	742;806	B5AK60;P08183	.;MDR1_HUMAN	N	587;806;742	ENSP00000265724:D806N;ENSP00000444095:D742N	ENSP00000265724:D806N	D	-	1	0	ABCB1	87003775	0.968000	0.33430	0.999000	0.59377	0.992000	0.81027	0.226000	0.17776	0.424000	0.26061	-0.218000	0.12543	GAC		0.453	ABCB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335444.2	NM_000927		10	46	0	0	0	1	0	10	46					T	87165839	C	T	87165839	3	4	266	1	0	0	0	0	1	0	0	0	40	826	29	3	1462	3	ABCB1	7	87165839	Missense_Mutation	SNP	C	TCGA-J4-A67M-01A-11D-A30E-08		87165839	71972824	21	12464											
PDIA4	9601	broad.mit.edu	37	chr7	148701024	148701024	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ggggcgaagtagatggtgggGaagccctccaccttatagcg	9	7	16	9	2	0	1	0	0	0	1	1	3	1	2	3	5	2	1	3	5	5	3	rs374274813		TCGA-J4-A67M-01A-11D-A30E-08	TCGA-J4-A67M-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da36622f-b6d4-427f-b233-ed97fc76abc5	085bf8ec-1841-4a4b-81c2-3ea1da79c1ed	g.chr7:148701024G>A	ENST00000286091.4	-	10	2032	c.1800C>T	c.(1798-1800)ttC>ttT	p.F600F		NM_004911.4	NP_004902.1	P13667	PDIA4_HUMAN	protein disulfide isomerase family A, member 4	600	Thioredoxin 3. {ECO:0000255|PROSITE- ProRule:PRU00691}.				cell redox homeostasis (GO:0045454)|chaperone-mediated protein folding (GO:0061077)|protein folding (GO:0006457)|protein secretion (GO:0009306)|response to endoplasmic reticulum stress (GO:0034976)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)	poly(A) RNA binding (GO:0044822)|protein disulfide isomerase activity (GO:0003756)			large_intestine(6)|lung(15)|ovary(2)|prostate(1)	24	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00385)			AGATGGTGGGGAAGCCCTCCA	0.542																																						ENST00000286091.4																			0				large_intestine(6)|lung(15)|ovary(2)|prostate(1)	24						c.(1798-1800)ttC>ttT		protein disulfide isomerase family A, member 4		G		0,4406		0,0,2203	88	90	89		1800	4.8	1	7		89	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	PDIA4	NM_004911.4		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		600/646	148701024	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	9601				cell redox homeostasis|glycerol ether metabolic process|protein secretion	endoplasmic reticulum lumen|melanosome	electron carrier activity|protein binding|protein disulfide isomerase activity|protein disulfide oxidoreductase activity	g.chr7:148701024G>A	BC001928	CCDS5893.1	7q35	2009-11-20	2005-06-29		ENSG00000155660	ENSG00000155660	5.3.4.1	"Protein disulfide isomerases"	30167	protein-coding gene	gene with protein product			"protein disulfide isomerase-associated 4"			2549034, 2002068	Standard	NM_004911		Approved	ERP70, ERP72	uc003wff.2	P13667	OTTHUMG00000150248	ENST00000286091.4:c.1800C>T	7.37:g.148701024G>A							p.F600F	NM_004911.4	NP_004902.1	P13667	PDIA4_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00385)		10	2032	-	Melanoma(164;0.15)		600			Thioredoxin 3.		A8K4K6|Q549T6	Silent	SNP	ENST00000286091.4	37	c.1800C>T	CCDS5893.1																																																																																				0.542	PDIA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317077.1	NM_004911		8	80	0	0	0	1	0	8	80					A	148701024	G	A	148701024	2	1	266	1	0	0	0	0	0	0	0	1	11670	1165	41	3		3	PDIA4	7	148701024	Silent	SNP	G	TCGA-J4-A67M-01A-11D-A30E-08	61535185	148701024	10437639	22	12465											
MMP16	4325	broad.mit.edu	37	chr8	89068388	89068388	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagaaataggttttcccgacGtcctcccaccaaatggctga	12	9	8	12	2	0	2	0	1	0	1	3	3	3	2	4	2	0	2	4	2	4	3	rs200751407	byFrequency	TCGA-J4-A67M-01A-11D-A30E-08	TCGA-J4-A67M-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da36622f-b6d4-427f-b233-ed97fc76abc5	085bf8ec-1841-4a4b-81c2-3ea1da79c1ed	g.chr8:89068388G>A	ENST00000286614.6	-	8	1622	c.1341C>T	c.(1339-1341)gaC>gaT	p.D447D		NM_005941.4	NP_005932.2	P51512	MMP16_HUMAN	matrix metallopeptidase 16 (membrane-inserted)	447					chondrocyte proliferation (GO:0035988)|collagen catabolic process (GO:0030574)|craniofacial suture morphogenesis (GO:0097094)|embryonic cranial skeleton morphogenesis (GO:0048701)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of catalytic activity (GO:0043085)	Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|enzyme activator activity (GO:0008047)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(51)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	81					Marimastat(DB00786)	TTTTCCCGACGTCCTCCCACC	0.413													g|||	3	0.000599042	0	0	5008	,	,		11053	0.003		0	False		,,,				2504	0					ENST00000286614.6																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(51)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	81						c.(1339-1341)gaC>gaT		matrix metallopeptidase 16 (membrane-inserted)							120	113	115					8																	89068388		2203	4300	6503	SO:0001819	synonymous_variant	4325				collagen catabolic process|proteolysis	cell surface|integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding	g.chr8:89068388G>A	D85511	CCDS6246.1	8q21	2009-01-09	2005-08-08		ENSG00000156103	ENSG00000156103			7162	protein-coding gene	gene with protein product		602262	"matrix metalloproteinase 16 (membrane-inserted)", "chromosome 8 open reading frame 57"	C8orf57		7559440	Standard	NM_005941		Approved	MT3-MMP, DKFZp761D112	uc003yeb.4	P51512	OTTHUMG00000163769	ENST00000286614.6:c.1341C>T	8.37:g.89068388G>A							p.D447D	NM_005941.4	NP_005932.2	P51512	MMP16_HUMAN			8	1622	-			447			Hemopexin-like 3.		B2RAN7|Q14824|Q52H48	Silent	SNP	ENST00000286614.6	37	c.1341C>T	CCDS6246.1																																																																																				0.413	MMP16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375304.2	NM_005941		27	66	0	0	0	1	0	27	66					A	89068388	G	A	89068388	2	1	266	1	0	0	0	0	0	0	0	1	9655	1136	40	1		1	MMP16	8	89068388	Silent	SNP	G	TCGA-J4-A67M-01A-11D-A30E-08		89068388	57295634	23	12466											
PIGO	84720	broad.mit.edu	37	chr9	35093455	35093455	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggaagactgctgtggggctaTacagaaagagagcagctgag	13	6	16	6	0	0	4	0	1	0	3	0	6	0	5	0	3	4	4	0	3	4	2			TCGA-J4-A67M-01A-11D-A30E-08	TCGA-J4-A67M-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da36622f-b6d4-427f-b233-ed97fc76abc5	085bf8ec-1841-4a4b-81c2-3ea1da79c1ed	g.chr9:35093455T>C	ENST00000378617.3	-	5	1296	c.902A>G	c.(901-903)tAt>tGt	p.Y301C	RP11-182N22.8_ENST00000431804.1_RNA|PIGO_ENST00000298004.5_Missense_Mutation_p.Y301C|PIGO_ENST00000341666.3_Missense_Mutation_p.Y301C|PIGO_ENST00000361778.2_Missense_Mutation_p.Y301C|PIGO_ENST00000492770.1_5'Flank	NM_032634.3	NP_116023.2	Q8TEQ8	PIGO_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class O	301					C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|GPI anchor biosynthetic process (GO:0006506)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	transferase activity (GO:0016740)			endometrium(3)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)	38			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			TGTGGGGCTATACAGAAAGAG	0.547																																						ENST00000378617.3																			0				endometrium(3)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)	38						c.(901-903)tAt>tGt		phosphatidylinositol glycan anchor biosynthesis, class O							85	82	83					9																	35093455		2203	4300	6503	SO:0001583	missense	84720				C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	transferase activity	g.chr9:35093455T>C	AB083625	CCDS6575.1, CCDS6576.1	9p13.2	2013-02-26	2006-06-28		ENSG00000165282	ENSG00000165282		"Phosphatidylinositol glycan anchor biosynthesis"	23215	protein-coding gene	gene with protein product		614730	"phosphatidylinositol glycan, class O"			10781593	Standard	NM_032634		Approved	DKFZp434M222, FLJ00135	uc003zwd.3	Q8TEQ8	OTTHUMG00000019854	ENST00000378617.3:c.902A>G	9.37:g.35093455T>C	ENSP00000367880:p.Tyr301Cys					PIGO_ENST00000298004.5_Missense_Mutation_p.Y301C|PIGO_ENST00000341666.3_Missense_Mutation_p.Y301C|PIGO_ENST00000361778.2_Missense_Mutation_p.Y301C	p.Y301C	NM_032634.3	NP_116023.2	Q8TEQ8	PIGO_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)		5	1296	-			301					B1AML3|Q6P154|Q6UX80|Q8TDS8|Q96CS9|Q9BVN9|Q9Y4B0	Missense_Mutation	SNP	ENST00000378617.3	37	c.902A>G	CCDS6575.1	.	.	.	.	.	.	.	.	.	.	T	24.8	4.574372	0.86542	.	.	ENSG00000165282	ENST00000298004;ENST00000378617;ENST00000341666;ENST00000361778	T;T;T;T	0.33654	1.4;1.4;1.4;1.4	5.3	5.3	0.74995	Alkaline phosphatase-like, alpha/beta/alpha (1);Alkaline-phosphatase-like, core domain (1);	0.129161	0.53938	D	0.000048	T	0.67230	0.2871	M	0.90595	3.13	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.995	T	0.75071	-0.3447	10	0.72032	D	0.01	-7.6763	15.4159	0.74966	0.0:0.0:0.0:1.0	.	301;301	Q8TEQ8-2;Q8TEQ8	.;PIGO_HUMAN	C	301	ENSP00000298004:Y301C;ENSP00000367880:Y301C;ENSP00000339382:Y301C;ENSP00000354678:Y301C	ENSP00000298004:Y301C	Y	-	2	0	PIGO	35083455	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.725000	0.84808	2.226000	0.72624	0.533000	0.62120	TAT		0.547	PIGO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052284.1	NM_032634		14	54	0	0	0	1	0	14	54					C	35093455	T	C	35093455	3	2	266	1	0	0	0	0	1	0	0	0	11894	1406	49	4	2395	4	PIGO	9	35093455	Missense_Mutation	SNP	T	TCGA-J4-A67M-01A-11D-A30E-08		35093455	106119976	24	12467											
CTNNAL1	8727	broad.mit.edu	37	chr9	111745457	111745457	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aattccagtaaaaatactgaTagatgaaatgtcagtctctc	16	12	6	7	0	2	3	1	2	1	1	5	3	3	3	1	0	1	1	1	0	7	4	rs553703596		TCGA-J4-A67M-01A-11D-A30E-08	TCGA-J4-A67M-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da36622f-b6d4-427f-b233-ed97fc76abc5	085bf8ec-1841-4a4b-81c2-3ea1da79c1ed	g.chr9:111745457T>C	ENST00000325551.4	-	6	954	c.868A>G	c.(868-870)Atc>Gtc	p.I290V	CTNNAL1_ENST00000374595.4_Missense_Mutation_p.I290V|CTNNAL1_ENST00000325580.6_Missense_Mutation_p.I290V	NM_003798.2	NP_003789.1	Q9UBT7	CTNL1_HUMAN	catenin (cadherin-associated protein), alpha-like 1	290					cell adhesion (GO:0007155)|Rho protein signal transduction (GO:0007266)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	structural molecule activity (GO:0005198)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(4)|urinary_tract(2)	25				STAD - Stomach adenocarcinoma(157;0.0768)		AAAATACTGATAGATGAAATG	0.279																																						ENST00000374595.4																			0				cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(4)|urinary_tract(2)	25						c.(868-870)Atc>Gtc		catenin (cadherin-associated protein), alpha-like 1							103	96	98					9																	111745457		2202	4300	6502	SO:0001583	missense	8727				cell adhesion|Rho protein signal transduction	actin cytoskeleton|cytosol|plasma membrane	cadherin binding|structural molecule activity	g.chr9:111745457T>C	AF030233	CCDS6775.1, CCDS69638.1	9q31.2	2008-07-21			ENSG00000119326	ENSG00000119326			2512	protein-coding gene	gene with protein product	"alpha-catulin", "alpha2-catulin"	604785				9806841	Standard	XM_005252291		Approved	CLLP, alpha-CATU	uc004bdo.1	Q9UBT7	OTTHUMG00000020466	ENST00000325551.4:c.868A>G	9.37:g.111745457T>C	ENSP00000320434:p.Ile290Val					CTNNAL1_ENST00000325580.6_Missense_Mutation_p.I290V|CTNNAL1_ENST00000325551.4_Missense_Mutation_p.I290V	p.I290V			Q9UBT7	CTNL1_HUMAN		STAD - Stomach adenocarcinoma(157;0.0768)	6	947	-			290					B5BU47|O76084|Q53FQ2|Q5JTQ7|Q5JTQ8|Q9Y401	Missense_Mutation	SNP	ENST00000325551.4	37	c.868A>G	CCDS6775.1	.	.	.	.	.	.	.	.	.	.	T	0.834	-0.744114	0.03088	.	.	ENSG00000119326	ENST00000374595;ENST00000325551;ENST00000325580	T;T;T	0.27256	1.68;1.83;1.69	5.91	-4.23	0.03789	.	0.778683	0.13058	N	0.417094	T	0.10766	0.0263	N	0.04203	-0.255	0.09310	N	1	B;B;B;B	0.15930	0.0;0.015;0.0;0.0	B;B;B;B	0.17722	0.001;0.019;0.001;0.001	T	0.30679	-0.9970	10	0.15499	T	0.54	0.6662	15.2709	0.73699	0.0:0.5498:0.0:0.4502	.	290;290;290;290	B2RBI4;Q9UBT7-3;Q9UBT7-2;Q9UBT7	.;.;.;CTNL1_HUMAN	V	290	ENSP00000363723:I290V;ENSP00000320434:I290V;ENSP00000323351:I290V	ENSP00000320434:I290V	I	-	1	0	CTNNAL1	110785278	0.004000	0.15560	0.016000	0.15963	0.977000	0.68977	-0.469000	0.06648	-1.129000	0.02918	-1.162000	0.01777	ATC		0.279	CTNNAL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053577.1	NM_003798		5	46	0	0	0	1	0	5	46					C	111745457	T	C	111745457	3	2	266	1	0	0	0	0	1	0	0	0	4015	1406	49	4	1392	4	CTNNAL1	9	111745457	Missense_Mutation	SNP	T	TCGA-J4-A67M-01A-11D-A30E-08	76652002	111745457	29467974	25	12468											
UPF2	26019	broad.mit.edu	37	chr10	12046639	12046639	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaggttctcataaaaattcCgagcatcttcatcttcccat	11	14	5	11	1	4	1	2	1	3	0	7	2	6	1	2	1	1	2	2	1	3	5			TCGA-J4-A67M-01A-11D-A30E-08	TCGA-J4-A67M-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da36622f-b6d4-427f-b233-ed97fc76abc5	085bf8ec-1841-4a4b-81c2-3ea1da79c1ed	g.chr10:12046639C>T	ENST00000356352.2	-	4	1867	c.1394G>A	c.(1393-1395)cGg>cAg	p.R465Q	UPF2_ENST00000397053.2_Missense_Mutation_p.R465Q|UPF2_ENST00000357604.5_Missense_Mutation_p.R465Q			Q9HAU5	RENT2_HUMAN	UPF2 regulator of nonsense transcripts homolog (yeast)	465					gene expression (GO:0010467)|liver development (GO:0001889)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|organ regeneration (GO:0031100)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|exon-exon junction complex (GO:0035145)|nucleus (GO:0005634)	RNA binding (GO:0003723)			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(14)|lung(17)|ovary(2)|skin(3)|urinary_tract(2)	56		Renal(717;0.228)				ATAAAAATTCCGAGCATCTTC	0.363																																						ENST00000356352.2																			0				breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(14)|lung(17)|ovary(2)|skin(3)|urinary_tract(2)	56						c.(1393-1395)cGg>cAg		UPF2 regulator of nonsense transcripts homolog (yeast)							110	102	104					10																	12046639		2203	4300	6503	SO:0001583	missense	26019				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	exon-exon junction complex|perinuclear region of cytoplasm	identical protein binding|RNA binding	g.chr10:12046639C>T	AB037829	CCDS7086.1	10p14-p13	2011-06-21			ENSG00000151461	ENSG00000151461			17854	protein-coding gene	gene with protein product	"smg-3 homolog, nonsense mediated mRNA decay factor (C. elegans)"	605529				11073994, 11113196	Standard	NM_080599		Approved	RENT2, DKFZP434D222, KIAA1408, smg-3	uc001ilb.3	Q9HAU5	OTTHUMG00000017678	ENST00000356352.2:c.1394G>A	10.37:g.12046639C>T	ENSP00000348708:p.Arg465Gln					UPF2_ENST00000357604.5_Missense_Mutation_p.R465Q|UPF2_ENST00000397053.2_Missense_Mutation_p.R465Q	p.R465Q			Q9HAU5	RENT2_HUMAN			4	1867	-		Renal(717;0.228)	465					A6NLJ5|D3DRS0|Q14BM1|Q5W0J4|Q8N8U1|Q9H1J2|Q9NWL1|Q9P2D9|Q9Y4M9	Missense_Mutation	SNP	ENST00000356352.2	37	c.1394G>A	CCDS7086.1	.	.	.	.	.	.	.	.	.	.	C	34	5.310250	0.95629	.	.	ENSG00000151461	ENST00000356352;ENST00000357604;ENST00000379172;ENST00000397053;ENST00000313977	T;T;T	0.62639	0.01;0.01;0.01	5.33	5.33	0.75918	.	0.000000	0.85682	D	0.000000	T	0.76343	0.3974	L	0.53249	1.67	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.944	T	0.75082	-0.3443	10	0.42905	T	0.14	.	19.0304	0.92953	0.0:1.0:0.0:0.0	.	435;465	Q9HAU5-2;Q9HAU5	.;RENT2_HUMAN	Q	465;465;435;465;435	ENSP00000348708:R465Q;ENSP00000350221:R465Q;ENSP00000380244:R465Q	ENSP00000313617:R435Q	R	-	2	0	UPF2	12086645	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.770000	0.85390	2.508000	0.84585	0.563000	0.77884	CGG		0.363	UPF2-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046783.1			8	77	0	0	0	1	0	8	77					T	12046639	C	T	12046639	3	4	266	1	0	0	0	0	1	0	0	0	17001	652	23	2	2496	2	UPF2	10	12046639	Missense_Mutation	SNP	C	TCGA-J4-A67M-01A-11D-A30E-08		12046639	123488108	26	12469											
UNC5B	219699	broad.mit.edu	37	chr10	73053281	73053281	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtgccgaagtcagtgcccGtgactggatctttcagctca	7	11	11	12	2	4	1	3	1	1	0	4	3	4	2	2	1	3	1	2	1	1	1	rs142079000		TCGA-J4-A67M-01A-11D-A30E-08	TCGA-J4-A67M-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da36622f-b6d4-427f-b233-ed97fc76abc5	085bf8ec-1841-4a4b-81c2-3ea1da79c1ed	g.chr10:73053281G>A	ENST00000335350.6	+	12	2308	c.1892G>A	c.(1891-1893)cGt>cAt	p.R631H	UNC5B_ENST00000373192.4_Missense_Mutation_p.R620H	NM_170744.4	NP_734465.2	Q8IZJ1	UNC5B_HUMAN	unc-5 homolog B (C. elegans)	631	ZU5. {ECO:0000255|PROSITE- ProRule:PRU00485}.				anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of apoptotic process (GO:0043065)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(4)|skin(4)	49						GTCAGTGCCCGTGACTGGATC	0.652																																						ENST00000335350.6																			0				breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(4)|skin(4)	49						c.(1891-1893)cGt>cAt		unc-5 homolog B (C. elegans)		G	HIS/ARG	0,4406		0,0,2203	93	91	92		1892	4	0.1	10	dbSNP_134	92	3,8597	3.0+/-9.4	0,3,4297	yes	missense	UNC5B	NM_170744.4	29	0,3,6500	AA,AG,GG		0.0349,0.0,0.0231	possibly-damaging	631/946	73053281	3,13003	2203	4300	6503	SO:0001583	missense	219699				apoptosis|axon guidance|regulation of apoptosis	integral to membrane		g.chr10:73053281G>A	AB096256	CCDS7309.1, CCDS58083.1	10q22.2	2013-01-11	2001-11-28		ENSG00000107731	ENSG00000107731		"Immunoglobulin superfamily / I-set domain containing"	12568	protein-coding gene	gene with protein product		607870	"unc5 (C.elegans homolog) b"				Standard	NM_170744		Approved	UNC5H2, p53RDL1	uc001jro.3	Q8IZJ1	OTTHUMG00000018422	ENST00000335350.6:c.1892G>A	10.37:g.73053281G>A	ENSP00000334329:p.Arg631His					UNC5B_ENST00000373192.4_Missense_Mutation_p.R620H	p.R631H	NM_170744.4	NP_734465.2	Q8IZJ1	UNC5B_HUMAN			12	2308	+			631			ZU5.		Q5T3R9|Q5T3S0|Q86SN3|Q8N1Y2|Q9H9F3	Missense_Mutation	SNP	ENST00000335350.6	37	c.1892G>A	CCDS7309.1	.	.	.	.	.	.	.	.	.	.	G	11.43	1.635617	0.29068	0.0	3.49E-4	ENSG00000107731	ENST00000335350;ENST00000373192	T;T	0.42513	0.97;0.97	4.9	3.99	0.46301	ZU5 (3);	0.594858	0.17184	N	0.183772	T	0.24812	0.0602	N	0.14661	0.345	0.09310	N	1	P;P	0.45768	0.838;0.866	B;B	0.40741	0.229;0.339	T	0.08452	-1.0721	10	0.59425	D	0.04	-14.6205	7.5093	0.27564	0.0953:0.3287:0.576:0.0	.	620;631	Q8IZJ1-2;Q8IZJ1	.;UNC5B_HUMAN	H	631;620	ENSP00000334329:R631H;ENSP00000362288:R620H	ENSP00000334329:R631H	R	+	2	0	UNC5B	72723287	0.983000	0.35010	0.062000	0.19696	0.131000	0.20780	4.652000	0.61454	2.279000	0.76181	0.462000	0.41574	CGT		0.652	UNC5B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048541.1	NM_170744		20	183	0	0	0	1	0	20	183					A	73053281	G	A	73053281	3	1	266	1	0	0	0	0	1	0	0	0	16989	1145	40	1	1938	1	UNC5B	10	73053281	Missense_Mutation	SNP	G	TCGA-J4-A67M-01A-11D-A30E-08	61006642	73053281	62481466	27	12470											
SAA2	6289	broad.mit.edu	37	chr11	18267020	18267020	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgatcggccagcgagtcctcCgcaccacggcctgtgagtct	6	8	12	15	4	1	2	0	2	1	0	4	3	3	2	5	2	1	1	5	2	0	0	rs200634677		TCGA-J4-A67M-01A-11D-A30E-08	TCGA-J4-A67M-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da36622f-b6d4-427f-b233-ed97fc76abc5	085bf8ec-1841-4a4b-81c2-3ea1da79c1ed	g.chr11:18267020C>T	ENST00000526900.1	-	4	456	c.273G>A	c.(271-273)gcG>gcA	p.A91A	RNA5SP333_ENST00000363466.1_RNA|SAA2_ENST00000414546.2_Intron|SAA2_ENST00000256733.4_Silent_p.A91A|SAA2-SAA4_ENST00000524555.1_RNA|SAA2_ENST00000528349.1_Intron|SAA2_ENST00000529528.1_Silent_p.A91A|SAA2_ENST00000530400.1_Intron			P0DJI9	SAA2_HUMAN	serum amyloid A2	91					acute-phase response (GO:0006953)	extracellular vesicular exosome (GO:0070062)|high-density lipoprotein particle (GO:0034364)				central_nervous_system(1)|large_intestine(2)|lung(2)|prostate(1)	6						GCGAGTCCTCCGCACCACGGC	0.557																																						ENST00000526900.1																			0				central_nervous_system(1)|large_intestine(2)|lung(2)|prostate(1)	6						c.(271-273)gcG>gcA		serum amyloid A2							88	78	81					11																	18267020		2199	4293	6492	SO:0001819	synonymous_variant	6289							g.chr11:18267020C>T	M26152	CCDS7833.1, CCDS44548.1	11p15.1-p14	2008-07-21			ENSG00000134339	ENSG00000134339			10514	protein-coding gene	gene with protein product		104751				7686132	Standard	NM_030754		Approved			P0DJI9	OTTHUMG00000166484	ENST00000526900.1:c.273G>A	11.37:g.18267020C>T						SAA2_ENST00000530400.1_Intron|SAA2_ENST00000529528.1_Silent_p.A91A|SAA2_ENST00000528349.1_Intron|SAA2_ENST00000256733.4_Silent_p.A91A|SAA2-SAA4_ENST00000524555.1_RNA|SAA2_ENST00000414546.2_Intron	p.A91A							4	456	-								G3XAK9|P02735|P02736|P02737|Q16730|Q16834|Q16835|Q16879|Q3KRB3|Q6FG67|Q96QN0|Q9UCK9|Q9UCL0	Silent	SNP	ENST00000526900.1	37	c.273G>A	CCDS7833.1																																																																																				0.557	SAA2-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389983.1	NM_030754		20	81	0	0	0	1	0	20	81					T	18267020	C	T	18267020	2	4	266	1	0	0	0	0	0	0	0	1	13799	639	23	2		2	SAA2	11	18267020	Silent	SNP	C	TCGA-J4-A67M-01A-11D-A30E-08		18267020	116739496	28	12471											
CLEC1A	51267	broad.mit.edu	37	chr12	10223969	10223969	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgtttcaggggggacatggAggctctctggcttcaccatt	7	12	13	9	0	3	0	2	0	1	0	4	2	3	2	1	6	0	3	1	6	0	3			TCGA-J4-A67M-01A-11D-A30E-08	TCGA-J4-A67M-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da36622f-b6d4-427f-b233-ed97fc76abc5	085bf8ec-1841-4a4b-81c2-3ea1da79c1ed	g.chr12:10223969A>G	ENST00000315330.4	-	6	868	c.806T>C	c.(805-807)cTc>cCc	p.L269P	CLEC1A_ENST00000420265.2_Missense_Mutation_p.L177P|CLEC1A_ENST00000457018.2_Missense_Mutation_p.L236P	NM_016511.2	NP_057595.2	Q8NC01	CLC1A_HUMAN	C-type lectin domain family 1, member A	269					cell surface receptor signaling pathway (GO:0007166)|defense response (GO:0006952)	integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)	carbohydrate binding (GO:0030246)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(9)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)	23						GGGGACATGGAGGCTCTCTGG	0.512																																						ENST00000315330.4																			0				breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(9)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)	23						c.(805-807)cTc>cCc		C-type lectin domain family 1, member A							175	155	162					12																	10223969		2203	4300	6503	SO:0001583	missense	51267				cell surface receptor linked signaling pathway|defense response	integral to plasma membrane|intracellular	sugar binding|transmembrane receptor activity	g.chr12:10223969A>G	AY358587	CCDS8612.1, CCDS73443.1	12p13.31	2005-02-09				ENSG00000150048		"C-type lectin domain containing"	24355	protein-coding gene	gene with protein product		606782				10671229, 11745369	Standard	XM_005253383		Approved	CLEC1, MGC34328	uc001qxb.3	Q8NC01		ENST00000315330.4:c.806T>C	12.37:g.10223969A>G	ENSP00000326407:p.Leu269Pro					CLEC1A_ENST00000457018.2_Missense_Mutation_p.L236P|CLEC1A_ENST00000420265.2_Missense_Mutation_p.L177P	p.L269P	NM_016511.2	NP_057595.2	Q8NC01	CLC1A_HUMAN			6	868	-			269					Q8IUW7|Q9NZH3	Missense_Mutation	SNP	ENST00000315330.4	37	c.806T>C	CCDS8612.1	.	.	.	.	.	.	.	.	.	.	A	16.41	3.114529	0.56505	.	.	ENSG00000150048	ENST00000315330;ENST00000457018;ENST00000420265	T;T;T	0.01505	4.9;4.89;4.82	5.33	5.33	0.75918	.	0.327160	0.22238	N	0.062737	T	0.07188	0.0182	L	0.52011	1.625	0.27556	N	0.950331	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.87578	0.998;0.97;0.991	T	0.04737	-1.0930	10	0.87932	D	0	.	11.6772	0.51436	1.0:0.0:0.0:0.0	.	177;236;269	E7ESV9;E9PFB4;Q8NC01	.;.;CLC1A_HUMAN	P	269;236;177	ENSP00000326407:L269P;ENSP00000415048:L236P;ENSP00000417010:L177P	ENSP00000326407:L269P	L	-	2	0	CLEC1A	10115236	0.206000	0.23470	0.017000	0.16124	0.037000	0.13140	4.243000	0.58721	2.002000	0.58637	0.460000	0.39030	CTC		0.512	CLEC1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399924.1	NM_016511		19	120	0	0	0	1	0	19	120					G	10223969	A	G	10223969	3	3	266	1	0	0	0	0	1	0	0	0	3505	304	11	4	40	4	CLEC1A	12	10223969	Missense_Mutation	SNP	A	TCGA-J4-A67M-01A-11D-A30E-08		10223969	123627926	29	12472											
C12orf64	283310	broad.mit.edu	37	chr12	80707349	80707349	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtttgtgcactagtatagctGcatatgcatacaagtgttgt	10	15	10	6	0	0	0	0	0	0	0	0	0	0	0	0	0	5	7	0	0	6	7			TCGA-J4-A67M-01A-11D-A30E-08	TCGA-J4-A67M-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da36622f-b6d4-427f-b233-ed97fc76abc5	085bf8ec-1841-4a4b-81c2-3ea1da79c1ed	g.chr12:80707349G>A	ENST00000547103.1	+	30	3523	c.3517G>A	c.(3517-3519)Gca>Aca	p.A1173T	OTOGL_ENST00000458043.2_Missense_Mutation_p.A1173T			Q3ZCN5	OTOGL_HUMAN	otogelin-like	1173					L-arabinose metabolic process (GO:0046373)	extracellular region (GO:0005576)	alpha-L-arabinofuranosidase activity (GO:0046556)			breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						TAGTATAGCTGCATATGCATA	0.368																																						ENST00000458043.2																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						c.(3517-3519)Gca>Aca		otogelin-like							180	190	187					12																	80707349		2184	4285	6469	SO:0001583	missense	283310							g.chr12:80707349G>A	AK096852		12q21.31	2011-02-11	2011-02-11	2011-02-11	ENSG00000165899	ENSG00000165899			26901	protein-coding gene	gene with protein product		614925	"chromosome 12 open reading frame 64"	C12orf64			Standard	NM_173591		Approved	FLJ90579	uc001szd.3	Q3ZCN5	OTTHUMG00000150509	ENST00000547103.1:c.3517G>A	12.37:g.80707349G>A	ENSP00000447211:p.Ala1173Thr					OTOGL_ENST00000547103.1_Missense_Mutation_p.A1173T	p.A1173T	NM_173591.3	NP_775862.3					30	3523	+								F8W0C3|Q495U8|Q8N8G5|Q8NC28	Missense_Mutation	SNP	ENST00000547103.1	37	c.3517G>A		.	.	.	.	.	.	.	.	.	.	G	22.5	4.293726	0.80914	.	.	ENSG00000165899	ENST00000547103;ENST00000458043	T;T	0.78707	-1.2;-1.2	5.61	5.61	0.85477	.	.	.	.	.	D	0.87513	0.6196	M	0.77406	2.37	0.80722	D	1	.	.	.	.	.	.	D	0.87465	0.2410	7	0.52906	T	0.07	.	19.6248	0.95674	0.0:0.0:1.0:0.0	.	.	.	.	T	1173	ENSP00000447211:A1173T;ENSP00000400895:A1173T	ENSP00000400895:A1173T	A	+	1	0	OTOGL	79231480	1.000000	0.71417	0.668000	0.29813	0.346000	0.29079	9.335000	0.96500	2.629000	0.89072	0.650000	0.86243	GCA		0.368	OTOGL-001	NOVEL	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000407438.1	NM_173591		4	79	0	0	0	1	0	4	79					A	80707349	G	A	80707349	3	1	266	1	0	0	0	0	1	0	0	0	1707	1319	46	3	3635	3	C12orf64	12	80707349	Missense_Mutation	SNP	G	TCGA-J4-A67M-01A-11D-A30E-08	70483380	80707349	53144546	30	12473											
DNAH10	196385	broad.mit.edu	37	chr12	124403289	124403289	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acaggctgcgggatggctacCggccagcagccaggaggggg	8	3	19	11	2	0	0	0	0	0	0	0	2	0	2	3	7	4	3	3	7	1	1	rs200977125		TCGA-J4-A67M-01A-11D-A30E-08	TCGA-J4-A67M-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da36622f-b6d4-427f-b233-ed97fc76abc5	085bf8ec-1841-4a4b-81c2-3ea1da79c1ed	g.chr12:124403289C>T	ENST00000409039.3	+	64	10970	c.10945C>T	c.(10945-10947)Cgg>Tgg	p.R3649W		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	3649					microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		GGATGGCTACCGGCCAGCAGC	0.567													C|||	1	0.000199681	0	0	5008	,	,		17681	0.001		0	False		,,,				2504	0					ENST00000409039.3																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52						c.(10945-10947)Cgg>Tgg		dynein, axonemal, heavy chain 10		C	TRP/ARG	0,3828		0,0,1914	34	38	37		10945	4.9	1	12		37	1,8233		0,1,4116	no	missense	DNAH10	NM_207437.3	101	0,1,6030	TT,TC,CC		0.0121,0.0,0.0083	probably-damaging	3649/4472	124403289	1,12061	1914	4117	6031	SO:0001583	missense	196385				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr12:124403289C>T	AJ132089	CCDS9255.2	12q24	2008-02-05	2006-09-04		ENSG00000197653	ENSG00000197653		"Axonemal dyneins"	2941	protein-coding gene	gene with protein product		605884	"dynein, axonemal, heavy polypeptide 10"				Standard	NM_207437		Approved	FLJ43808	uc001uft.4	Q8IVF4	OTTHUMG00000154477	ENST00000409039.3:c.10945C>T	12.37:g.124403289C>T	ENSP00000386770:p.Arg3649Trp						p.R3649W	NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)	64	10970	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		3649					C9JMF5|O95495|Q6ZUC9|Q6ZUP6|Q8N761	Missense_Mutation	SNP	ENST00000409039.3	37	c.10945C>T	CCDS9255.2	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	C	22.4	4.289379	0.80914	0.0	1.21E-4	ENSG00000197653	ENST00000409039	T	0.55413	0.52	5.79	4.88	0.63580	.	0.000000	0.85682	D	0.000000	D	0.83399	0.5246	H	0.99074	4.42	0.80722	D	1	D	0.89917	1.0	D	0.69142	0.962	D	0.90395	0.4398	10	0.72032	D	0.01	.	14.9896	0.71377	0.2587:0.7413:0.0:0.0	.	3649	Q8IVF4	DYH10_HUMAN	W	3649	ENSP00000386770:R3649W	ENSP00000386770:R3649W	R	+	1	2	DNAH10	122969242	0.996000	0.38824	1.000000	0.80357	0.848000	0.48234	0.506000	0.22658	1.394000	0.46624	0.561000	0.74099	CGG		0.567	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335420.3			5	36	0	0	0	1	0	5	36					T	124403289	C	T	124403289	3	4	266	1	0	0	0	0	1	0	0	0	4598	643	23	2	11199	2	DNAH10	12	124403289	Missense_Mutation	SNP	C	TCGA-J4-A67M-01A-11D-A30E-08	43695940	124403289	9448606	31	12474											
OR4K15	81127	broad.mit.edu	37	chr14	20444014	20444014	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttgcagactttctggttgagCgcaagactatttcttttgat	8	17	9	7	1	2	4	0	2	2	2	2	4	2	4	0	1	2	3	0	1	2	7	rs201446213		TCGA-J4-A67M-01A-11D-A30E-08	TCGA-J4-A67M-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da36622f-b6d4-427f-b233-ed97fc76abc5	085bf8ec-1841-4a4b-81c2-3ea1da79c1ed	g.chr14:20444014C>T	ENST00000305051.5	+	1	412	c.337C>T	c.(337-339)Cgc>Tgc	p.R113C		NM_001005486.1	NP_001005486.1	Q8NH41	OR4KF_HUMAN	olfactory receptor, family 4, subfamily K, member 15	113						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|ovary(1)|prostate(2)|skin(1)|stomach(1)	39	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;3.58e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TCTGGTTGAGCGCAAGACTAT	0.453													C|||	1	0.000199681	0	0	5008	,	,		22190	0		0	False		,,,				2504	0.001					ENST00000305051.5																			0				endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|ovary(1)|prostate(2)|skin(1)|stomach(1)	39						c.(337-339)Cgc>Tgc		olfactory receptor, family 4, subfamily K, member 15							126	131	130					14																	20444014		2203	4297	6500	SO:0001583	missense	81127				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20444014C>T		CCDS32026.1	14q11.2	2013-09-23			ENSG00000169488	ENSG00000169488		"GPCR / Class A : Olfactory receptors"	15353	protein-coding gene	gene with protein product							Standard	NM_001005486		Approved	OR4K15Q	uc010tkx.2	Q8NH41	OTTHUMG00000170635	ENST00000305051.5:c.337C>T	14.37:g.20444014C>T	ENSP00000304077:p.Arg113Cys						p.R113C	NM_001005486.1	NP_001005486.1	Q8NH41	OR4KF_HUMAN	Epithelial(56;9.96e-07)|all cancers(55;3.58e-06)	GBM - Glioblastoma multiforme(265;0.00327)	1	412	+	all_cancers(95;0.00108)		113					B9EIL3|Q6IEZ4	Missense_Mutation	SNP	ENST00000305051.5	37	c.337C>T	CCDS32026.1	.	.	.	.	.	.	.	.	.	.	.	0.939	-0.710032	0.03230	.	.	ENSG00000169488	ENST00000305051	T	0.03124	4.04	3.6	1.6	0.23607	GPCR, rhodopsin-like superfamily (1);	1.002150	0.08047	N	0.996093	T	0.04497	0.0123	L	0.54323	1.7	0.09310	N	1	B	0.11235	0.004	B	0.06405	0.002	T	0.42982	-0.9419	10	0.42905	T	0.14	.	3.0888	0.06286	0.2117:0.5497:0.0:0.2385	.	113	Q8NH41	OR4KF_HUMAN	C	113	ENSP00000304077:R113C	ENSP00000304077:R113C	R	+	1	0	OR4K15	19513854	0.000000	0.05858	0.001000	0.08648	0.016000	0.09150	-1.218000	0.02976	0.709000	0.31976	0.585000	0.79938	CGC		0.453	OR4K15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409883.1			24	154	0	0	0	1	0	24	154					T	20444014	C	T	20444014	3	4	266	1	0	0	0	0	1	0	0	0	11070	768	27	1	339	1	OR4K15	14	20444014	Missense_Mutation	SNP	C	TCGA-J4-A67M-01A-11D-A30E-08		20444014	86905526	32	12475											
KIAA1409	57578	broad.mit.edu	37	chr14	94004514	94004514	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctcctccgcccatcaacacGcgggaatgcggcgctgagga	8	6	12	15	5	2	1	1	1	1	0	4	3	3	3	3	3	2	1	3	3	2	0			TCGA-J4-A67M-01A-11D-A30E-08	TCGA-J4-A67M-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da36622f-b6d4-427f-b233-ed97fc76abc5	085bf8ec-1841-4a4b-81c2-3ea1da79c1ed	g.chr14:94004514G>A	ENST00000393151.2	+	12	1302	c.1302G>A	c.(1300-1302)acG>acA	p.T434T	UNC79_ENST00000553484.1_Silent_p.T434T|UNC79_ENST00000555664.1_Silent_p.T434T|UNC79_ENST00000256339.4_Silent_p.T257T			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	434					behavioral response to ethanol (GO:0048149)|ion transmembrane transport (GO:0034220)|multicellular organism growth (GO:0035264)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						CCATCAACACGCGGGAATGCG	0.567																																						ENST00000553484.1																			0				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						c.(1300-1302)acG>acA		unc-79 homolog (C. elegans)							40	39	39					14																	94004514		2203	4300	6503	SO:0001819	synonymous_variant	57578					integral to membrane		g.chr14:94004514G>A	AB037830	CCDS9911.2	14q32.13	2011-08-18	2011-08-18	2011-08-18	ENSG00000133958	ENSG00000133958			19966	protein-coding gene	gene with protein product			"KIAA1409"	KIAA1409		20714347, 21040849	Standard	NM_020818		Approved		uc001ybs.1	Q9P2D8	OTTHUMG00000029783	ENST00000393151.2:c.1302G>A	14.37:g.94004514G>A						UNC79_ENST00000393151.2_Silent_p.T434T|UNC79_ENST00000555664.1_Silent_p.T434T|UNC79_ENST00000256339.4_Silent_p.T257T	p.T434T			Q9P2D8	UNC79_HUMAN			12	1456	+			434					B5MDL6|Q6ZUT7	Silent	SNP	ENST00000393151.2	37	c.1302G>A																																																																																					0.567	UNC79-006	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000412766.1	XM_028395		6	30	0	0	0	1	0	6	30					A	94004514	G	A	94004514	2	1	266	1	0	0	0	0	0	0	0	1	8230	1074	38	1		1	KIAA1409	14	94004514	Silent	SNP	G	TCGA-J4-A67M-01A-11D-A30E-08	73560500	94004514	13345026	33	12476											
MTMR15	22909	broad.mit.edu	37	chr15	31229359	31229359	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccccaatgatcgtctttcacAtaagcagatgatctggctgg	10	11	9	11	1	3	3	1	2	2	1	4	3	3	3	2	2	1	2	2	2	2	2			TCGA-J4-A67M-01A-11D-A30E-08	TCGA-J4-A67M-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da36622f-b6d4-427f-b233-ed97fc76abc5	085bf8ec-1841-4a4b-81c2-3ea1da79c1ed	g.chr15:31229359A>G	ENST00000362065.4	+	14	3245	c.2954A>G	c.(2953-2955)cAt>cGt	p.H985R		NM_014967.4	NP_055782.3	Q9Y2M0	FAN1_HUMAN	FANCD2/FANCI-associated nuclease 1	985	VRR-NUC.				DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA incision (GO:0033683)	nucleus (GO:0005634)	5'-3' exonuclease activity (GO:0008409)|5'-flap endonuclease activity (GO:0017108)|DNA binding (GO:0003677)|magnesium ion binding (GO:0000287)|phosphodiesterase I activity (GO:0004528)|ubiquitin binding (GO:0043130)			autonomic_ganglia(2)|breast(2)|cervix(2)|endometrium(7)|kidney(1)|large_intestine(6)|lung(8)|skin(1)	29						CGTCTTTCACATAAGCAGATG	0.423								Direct reversal of damage																														ENST00000362065.4																			0				autonomic_ganglia(2)|breast(2)|cervix(2)|endometrium(7)|kidney(1)|large_intestine(6)|lung(8)|skin(1)	29						c.(2953-2955)cAt>cGt	Direct reversal of damage	FANCD2/FANCI-associated nuclease 1							96	96	96					15																	31229359		2202	4300	6502	SO:0001583	missense	22909				double-strand break repair via homologous recombination|nucleotide-excision repair, DNA incision	nucleus	5'-3' exonuclease activity|5'-flap endonuclease activity|DNA binding|magnesium ion binding|phosphodiesterase I activity|ubiquitin binding	g.chr15:31229359A>G		CCDS32186.1, CCDS58344.1	15q13.2-q13.3	2010-08-04	2010-08-04	2010-08-04		ENSG00000198690			29170	protein-coding gene	gene with protein product		613534	"KIAA1018", "myotubularin related protein 15"	KIAA1018, MTMR15		20603015, 20603016, 20603073	Standard	NM_014967		Approved		uc001zff.3	Q9Y2M0		ENST00000362065.4:c.2954A>G	15.37:g.31229359A>G	ENSP00000354497:p.His985Arg						p.H985R	NM_014967.4	NP_055782.3	Q9Y2M0	FAN1_HUMAN			14	3245	+			985			VRR-NUC.		A8K4M2|Q86WU8	Missense_Mutation	SNP	ENST00000362065.4	37	c.2954A>G	CCDS32186.1	.	.	.	.	.	.	.	.	.	.	A	11.84	1.757474	0.31137	.	.	ENSG00000198690	ENST00000362065	D	0.85013	-1.93	5.2	-0.128	0.13506	VRR-NUC (1);	0.461717	0.24465	N	0.038282	T	0.81494	0.4834	M	0.64997	1.995	0.80722	D	1	P;P	0.40360	0.714;0.714	B;B	0.43386	0.34;0.418	T	0.72972	-0.4129	10	0.18710	T	0.47	-0.0474	9.9041	0.41366	0.4239:0.5079:0.0682:0.0	.	985;985	Q9Y2M0;D9MXF4	FAN1_HUMAN;.	R	985	ENSP00000354497:H985R	ENSP00000354497:H985R	H	+	2	0	FAN1	29016651	0.644000	0.27277	0.005000	0.12908	0.924000	0.55760	1.763000	0.38461	-0.194000	0.10399	0.459000	0.35465	CAT		0.423	FAN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430740.1	NM_014967		14	102	0	0	0	1	0	14	102					G	31229359	A	G	31229359	3	3	266	1	0	0	0	0	1	0	0	0	9943	217	8	4	3029	4	MTMR15	15	31229359	Missense_Mutation	SNP	A	TCGA-J4-A67M-01A-11D-A30E-08		31229359	71302033	34	12477											
FAM96A	84191	broad.mit.edu	37	chr15	64365169	64365169	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cactgttccacaatttcccgTaagttggggttttccattgc	7	15	8	11	1	0	0	0	0	0	0	3	0	3	0	3	2	1	4	3	2	2	7			TCGA-J4-A67M-01A-11D-A30E-08	TCGA-J4-A67M-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da36622f-b6d4-427f-b233-ed97fc76abc5	085bf8ec-1841-4a4b-81c2-3ea1da79c1ed	g.chr15:64365169T>C	ENST00000300030.3	-	5	693	c.444A>G	c.(442-444)ttA>ttG	p.L148L	FAM96A_ENST00000380290.3_3'UTR|FAM96A_ENST00000558779.1_5'UTR	NM_032231.4	NP_115607.1	Q9H5X1	FA96A_HUMAN	family with sequence similarity 96, member A	148					chromosome segregation (GO:0007059)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)	p.L148F(1)		kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	9						CAATTTCCCGTAAGTTGGGGT	0.388																																						ENST00000300030.3																			1	Substitution - Missense(1)	p.L148F(1)	lung(1)	kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	9						c.(442-444)ttA>ttG		family with sequence similarity 96, member A							163	138	146					15																	64365169		2203	4300	6503	SO:0001819	synonymous_variant	84191				chromosome segregation			g.chr15:64365169T>C		CCDS10189.1, CCDS45278.1	15q22.31	2014-01-16			ENSG00000166797	ENSG00000166797			26235	protein-coding gene	gene with protein product						23891004	Standard	NM_032231		Approved	FLJ22875	uc002amt.1	Q9H5X1	OTTHUMG00000132961	ENST00000300030.3:c.444A>G	15.37:g.64365169T>C						FAM96A_ENST00000380290.3_3'UTR|FAM96A_ENST00000558779.1_5'UTR	p.L148L	NM_032231.4	NP_115607.1	Q9H5X1	FA96A_HUMAN			5	693	-			148					A6NKS1|B2R5F8|B7Z8Z5	Silent	SNP	ENST00000300030.3	37	c.444A>G	CCDS10189.1																																																																																				0.388	FAM96A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256520.1	NM_032231		17	97	0	0	0	1	0	17	97					C	64365169	T	C	64365169	2	2	266	1	0	0	0	0	0	0	0	1	5654	1635	57	4		4	FAM96A	15	64365169	Silent	SNP	T	TCGA-J4-A67M-01A-11D-A30E-08	33135810	64365169	38166223	35	12478											
WDR59	79726	broad.mit.edu	37	chr16	74955991	74955991	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccatcacagtcaccaatccaTtgctgaaaggctaaggcagg	13	7	9	12	0	2	1	2	1	0	0	3	1	3	1	3	3	1	3	3	3	3	2	rs377268861		TCGA-J4-A67M-01A-11D-A30E-08	TCGA-J4-A67M-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da36622f-b6d4-427f-b233-ed97fc76abc5	085bf8ec-1841-4a4b-81c2-3ea1da79c1ed	g.chr16:74955991T>C	ENST00000262144.6	-	10	870	c.740A>G	c.(739-741)aAt>aGt	p.N247S		NM_030581.3	NP_085058.3	Q6PJI9	WDR59_HUMAN	WD repeat domain 59	247										breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)	27						CACCAATCCATTGCTGAAAGG	0.493																																						ENST00000262144.6																			0				breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)	27						c.(739-741)aAt>aGt		WD repeat domain 59		T	SER/ASN	0,4396		0,0,2198	94	79	84		740	5.1	0.9	16		84	1,8599	1.2+/-3.3	0,1,4299	no	missense	WDR59	NM_030581.3	46	0,1,6497	CC,CT,TT		0.0116,0.0,0.0077	benign	247/975	74955991	1,12995	2198	4300	6498	SO:0001583	missense	79726							g.chr16:74955991T>C	AB067510	CCDS32488.1	16q22.3	2013-01-09				ENSG00000103091		"WD repeat domain containing"	25706	protein-coding gene	gene with protein product						11572484	Standard	XM_005256146		Approved	FLJ12270	uc002fdh.1	Q6PJI9		ENST00000262144.6:c.740A>G	16.37:g.74955991T>C	ENSP00000262144:p.Asn247Ser						p.N247S	NM_030581.3	NP_085058.3	Q6PJI9	WDR59_HUMAN			10	870	-			247					B3KRC3|Q71RE7|Q96PW5|Q9BSW6|Q9HA43	Missense_Mutation	SNP	ENST00000262144.6	37	c.740A>G	CCDS32488.1	.	.	.	.	.	.	.	.	.	.	T	15.95	2.983096	0.53827	0.0	1.16E-4	ENSG00000103091	ENST00000262144;ENST00000536050	T	0.70631	-0.5	6.17	5.05	0.67936	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.044909	0.85682	D	0.000000	T	0.62159	0.2405	L	0.43152	1.355	0.80722	D	1	B;B	0.31077	0.231;0.307	B;B	0.34452	0.183;0.138	T	0.55101	-0.8193	10	0.10377	T	0.69	-28.1835	13.5131	0.61524	0.0:0.0:0.1302:0.8698	.	247;247	Q6PJI9-2;Q6PJI9	.;WDR59_HUMAN	S	247;226	ENSP00000262144:N247S	ENSP00000262144:N247S	N	-	2	0	WDR59	73513492	1.000000	0.71417	0.850000	0.33497	0.701000	0.40568	4.161000	0.58170	1.104000	0.41587	0.533000	0.62120	AAT		0.493	WDR59-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410601.3	NM_030581		4	98	0	0	0	1	0	4	98					C	74955991	T	C	74955991	3	2	266	1	0	0	0	0	1	0	0	0	17305	1493	52	4	2252	4	WDR59	16	74955991	Missense_Mutation	SNP	T	TCGA-J4-A67M-01A-11D-A30E-08		74955991	15398762	36	12479											
FMNL1	752	broad.mit.edu	37	chr17	43311099	43311099	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tttgcccagtgctctgtcacGtaagccccctgctcccagcc	5	10	8	18	1	2	0	1	0	1	0	3	0	3	0	5	0	5	3	5	0	1	2			TCGA-J4-A67M-01A-11D-A30E-08	TCGA-J4-A67M-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da36622f-b6d4-427f-b233-ed97fc76abc5	085bf8ec-1841-4a4b-81c2-3ea1da79c1ed	g.chr17:43311099G>A	ENST00000331495.3	+	5	821		c.e5+1		FMNL1_ENST00000328118.3_Splice_Site|FMNL1_ENST00000592006.1_Splice_Site	NM_005892.3	NP_005883	O95466	FMNL_HUMAN	formin-like 1						actin filament severing (GO:0051014)|cortical actin cytoskeleton organization (GO:0030866)|regulation of cell shape (GO:0008360)|substrate-dependent cell migration (GO:0006929)	cell projection (GO:0042995)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)|GTPase activating protein binding (GO:0032794)|Rac GTPase binding (GO:0048365)			biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(12)|pancreas(1)|skin(1)|urinary_tract(2)	33						GCTCTGTCACGTAAGCCCCCT	0.622																																					GBM(164;1247 1997 8702 11086 51972)	ENST00000331495.3																			0				biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(12)|pancreas(1)|skin(1)|urinary_tract(2)	33						c.e5+1		formin-like 1							121	107	112					17																	43311099		2203	4300	6503	SO:0001630	splice_region_variant	752				actin cytoskeleton organization		actin binding|Rho GTPase binding	g.chr17:43311099G>A	AJ008112	CCDS11497.1	17q21.31	2008-05-14	2003-12-02	2003-12-03		ENSG00000184922			1212	protein-coding gene	gene with protein product		604656	"formin-like"	C17orf1B, FMNL		9799091	Standard	NM_005892		Approved	C17orf1	uc002iin.3	O95466		ENST00000331495.3:c.485+1G>A	17.37:g.43311099G>A						FMNL1_ENST00000328118.3_Splice_Site|FMNL1_ENST00000592006.1_Splice_Site		NM_005892.3	NP_005883.2	O95466	FMNL_HUMAN			5	821	+								D2DGW2|Q6DKG5|Q6IBP3|Q86UH1|Q8N671|Q8TDH1|Q96H10	Splice_Site	SNP	ENST00000331495.3	37		CCDS11497.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.335361	0.81801	.	.	ENSG00000184922	ENST00000328118;ENST00000331495	.	.	.	5.14	5.14	0.70334	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.1831	0.86859	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	FMNL1	40666882	1.000000	0.71417	1.000000	0.80357	0.798000	0.45092	7.771000	0.85420	2.401000	0.81631	0.561000	0.74099	.		0.622	FMNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450198.1	NM_005892	Intron	6	68	0	0	0	1	0	6	68					A	43311099	G	A	43311099	5	1	266	1	0	0	0	0	0	0	1	0	5951	1159	40	1	504	1	FMNL1	17	43311099	Splice_Site	SNP	G	TCGA-J4-A67M-01A-11D-A30E-08		43311099	37884111	37	12480											
EMILIN2	84034	broad.mit.edu	37	chr18	2890715	2890715	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggttcttcgactcacaaggaCggttcttgacctccagtctt	7	13	9	12	2	4	1	1	1	3	0	6	3	5	2	2	3	0	2	2	3	1	5	rs79649705	byFrequency	TCGA-J4-A67M-01A-11D-A30E-08	TCGA-J4-A67M-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da36622f-b6d4-427f-b233-ed97fc76abc5	085bf8ec-1841-4a4b-81c2-3ea1da79c1ed	g.chr18:2890715C>T	ENST00000254528.3	+	4	749	c.590C>T	c.(589-591)aCg>aTg	p.T197M		NM_032048.2	NP_114437.2	Q9BXX0	EMIL2_HUMAN	elastin microfibril interfacer 2	197					cell adhesion (GO:0007155)	collagen trimer (GO:0005581)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix constituent conferring elasticity (GO:0030023)			breast(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(4)	48				READ - Rectum adenocarcinoma(2;0.1)		CTCACAAGGACGGTTCTTGAC	0.527													C|||	5	0.000998403	0	0	5008	,	,		20234	0.004		0	False		,,,				2504	0.001					ENST00000254528.3																			0				breast(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(4)	48						c.(589-591)aCg>aTg		elastin microfibril interfacer 2		C	MET/THR	0,4406		0,0,2203	79	79	79		590	4.3	0.9	18	dbSNP_131	79	1,8599	1.2+/-3.3	0,1,4299	yes	missense	EMILIN2	NM_032048.2	81	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	197/1054	2890715	1,13005	2203	4300	6503	SO:0001583	missense	84034				cell adhesion	collagen	extracellular matrix constituent conferring elasticity|protein binding	g.chr18:2890715C>T	AF270513	CCDS11828.1	18p11.3	2008-02-05			ENSG00000132205	ENSG00000132205		"EMI domain containing"	19881	protein-coding gene	gene with protein product		608928					Standard	NM_032048		Approved	FLJ33200, FOAP-10	uc002kln.3	Q9BXX0	OTTHUMG00000128525	ENST00000254528.3:c.590C>T	18.37:g.2890715C>T	ENSP00000254528:p.Thr197Met						p.T197M	NM_032048.2	NP_114437.2	Q9BXX0	EMIL2_HUMAN		READ - Rectum adenocarcinoma(2;0.1)	4	749	+			197					B2RMY3|Q8NBH3|Q96JQ4	Missense_Mutation	SNP	ENST00000254528.3	37	c.590C>T	CCDS11828.1	.	.	.	.	.	.	.	.	.	.	C	10.74	1.436620	0.25813	0.0	1.16E-4	ENSG00000132205	ENST00000254528	T	0.37915	1.17	5.41	4.29	0.51040	.	0.248741	0.34507	N	0.003908	T	0.21674	0.0522	L	0.31845	0.965	0.29037	N	0.885336	P	0.37612	0.602	B	0.25614	0.062	T	0.08330	-1.0727	10	0.19590	T	0.45	-11.8256	11.7268	0.51714	0.0:0.8933:0.0:0.1067	.	197	Q9BXX0	EMIL2_HUMAN	M	197	ENSP00000254528:T197M	ENSP00000254528:T197M	T	+	2	0	EMILIN2	2880715	0.997000	0.39634	0.903000	0.35520	0.994000	0.84299	3.424000	0.52764	0.918000	0.36919	0.557000	0.71058	ACG		0.527	EMILIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250337.2	NM_032048		13	123	0	0	0	1	0	13	123					T	2890715	C	T	2890715	3	4	266	1	0	0	0	0	1	0	0	0	5094	536	19	1	604	1	EMILIN2	18	2890715	Missense_Mutation	SNP	C	TCGA-J4-A67M-01A-11D-A30E-08		2890715	75186533	38	12481											
EPB41L3	23136	broad.mit.edu	37	chr18	5406823	5406823	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggggcatcctcctgcctggCggccagtcgcacgggggagg	4	5	19	13	3	0	0	0	0	0	0	3	1	2	1	4	7	1	2	4	7	0	0	rs558098862		TCGA-J4-A67M-01A-11D-A30E-08	TCGA-J4-A67M-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da36622f-b6d4-427f-b233-ed97fc76abc5	085bf8ec-1841-4a4b-81c2-3ea1da79c1ed	g.chr18:5406823C>T	ENST00000341928.2	-	16	2642	c.2302G>A	c.(2302-2304)Gcc>Acc	p.A768T	EPB41L3_ENST00000540638.2_Missense_Mutation_p.A587T|EPB41L3_ENST00000544123.1_Missense_Mutation_p.A599T|EPB41L3_ENST00000542146.1_Missense_Mutation_p.A40T|EPB41L3_ENST00000427684.2_Missense_Mutation_p.A40T|EPB41L3_ENST00000542652.2_5'UTR|EPB41L3_ENST00000400111.3_Missense_Mutation_p.A587T|EPB41L3_ENST00000342933.3_Missense_Mutation_p.A768T	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	768	Spectrin--actin-binding. {ECO:0000255}.				apoptotic process (GO:0006915)|cortical actin cytoskeleton organization (GO:0030866)|cortical cytoskeleton organization (GO:0030865)|cytoskeletal anchoring at plasma membrane (GO:0007016)|myelin maintenance (GO:0043217)|neuron projection morphogenesis (GO:0048812)|paranodal junction assembly (GO:0030913)|protein localization to juxtaparanode region of axon (GO:0071205)|protein localization to paranode region of axon (GO:0002175)|protein localization to plasma membrane (GO:0072659)|regulation of cell shape (GO:0008360)	axolemma (GO:0030673)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)|juxtaparanode region of axon (GO:0044224)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)	p.A768S(1)		breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						TCCTGCCTGGCGGCCAGTCGC	0.532																																						ENST00000341928.2																			1	Substitution - Missense(1)	p.A768S(1)	large_intestine(1)	breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						c.(2302-2304)Gcc>Acc		erythrocyte membrane protein band 4.1-like 3							120	100	107					18																	5406823		2203	4300	6503	SO:0001583	missense	23136				cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity	g.chr18:5406823C>T	AB023204	CCDS11838.1, CCDS62381.1, CCDS62382.1	18p11.32	2006-06-28			ENSG00000082397	ENSG00000082397			3380	protein-coding gene	gene with protein product		605331				9828140, 9892180	Standard	NM_012307		Approved	DAL1, KIAA0987, 4.1B	uc002kmt.1	Q9Y2J2	OTTHUMG00000131562	ENST00000341928.2:c.2302G>A	18.37:g.5406823C>T	ENSP00000343158:p.Ala768Thr					EPB41L3_ENST00000544123.1_Missense_Mutation_p.A599T|EPB41L3_ENST00000542652.2_5'UTR|EPB41L3_ENST00000427684.2_Missense_Mutation_p.A40T|EPB41L3_ENST00000342933.3_Missense_Mutation_p.A768T|EPB41L3_ENST00000542146.1_Missense_Mutation_p.A40T|EPB41L3_ENST00000540638.2_Missense_Mutation_p.A587T|EPB41L3_ENST00000400111.3_Missense_Mutation_p.A587T	p.A768T	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN			16	2642	-			768			Spectrin--actin-binding (Potential).		B7Z4I5|F5GX05|O95713|Q9BRP5	Missense_Mutation	SNP	ENST00000341928.2	37	c.2302G>A	CCDS11838.1	.	.	.	.	.	.	.	.	.	.	C	11.32	1.605429	0.28623	.	.	ENSG00000082397	ENST00000341928;ENST00000540638;ENST00000544123;ENST00000545076;ENST00000427684;ENST00000542146;ENST00000342933;ENST00000400111	T;D;T;T;T;D	0.82433	-1.42;-1.58;-0.06;-0.07;-1.42;-1.61	6.02	4.98	0.66077	.	0.283151	0.40818	N	0.001004	D	0.86802	0.6020	L	0.60455	1.87	0.34986	D	0.754539	P;D;D;P;P;P;P;D	0.89917	0.921;1.0;1.0;0.9;0.826;0.524;0.731;0.971	B;D;D;B;B;B;B;B	0.87578	0.361;0.993;0.998;0.349;0.238;0.155;0.139;0.298	D	0.83537	0.0094	10	0.09084	T	0.74	.	12.5199	0.56054	0.0:0.8598:0.0:0.1402	.	599;40;40;160;478;587;768;40	F5GX05;E7EUF8;F5H7W5;B7Z8M8;A8K968;Q9Y2J2-2;Q9Y2J2;B3KT50	.;.;.;.;.;.;E41L3_HUMAN;.	T	768;478;599;478;40;40;768;587	ENSP00000343158:A768T;ENSP00000441174:A599T;ENSP00000392195:A40T;ENSP00000442233:A40T;ENSP00000341138:A768T;ENSP00000382981:A587T	ENSP00000343158:A768T	A	-	1	0	EPB41L3	5396823	0.513000	0.26194	0.973000	0.42090	0.716000	0.41182	0.855000	0.27805	2.865000	0.98341	0.655000	0.94253	GCC		0.532	EPB41L3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254424.1	NM_012307		11	87	0	0	0	1	0	11	87					T	5406823	C	T	5406823	3	4	266	1	0	0	0	0	1	0	0	0	5154	768	27	1	989	1	EPB41L3	18	5406823	Missense_Mutation	SNP	C	TCGA-J4-A67M-01A-11D-A30E-08	2516108	5406823	72670425	39	12482											
ZNF28	7576	broad.mit.edu	37	chr19	53303676	53303677	+	Frame_Shift_Del	DEL	TT	TT	-																															tgtgatttgcacctgaaaacTttgtcacattcttcacattt																										TCGA-J4-A67M-01A-11D-A30E-08	TCGA-J4-A67M-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da36622f-b6d4-427f-b233-ed97fc76abc5	085bf8ec-1841-4a4b-81c2-3ea1da79c1ed	g.chr19:53303676_53303677delTT	ENST00000457749.2	-	4	1540_1541	c.1421_1422delAA	c.(1420-1422)aaafs	p.K474fs	ZNF28_ENST00000438150.2_Frame_Shift_Del_p.K421fs|ZNF28_ENST00000414252.2_Frame_Shift_Del_p.K421fs|ZNF28_ENST00000360272.4_Frame_Shift_Del_p.K421fs	NM_006969.3	NP_008900.3	P17035	ZNF28_HUMAN	zinc finger protein 28	474					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|liver(1)|lung(10)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(134;0.0386)|Lung(386;0.145)		ACCTGAAAACTTTGTCACATTC	0.386																																						ENST00000438150.2																			0				breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|liver(1)|lung(10)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						c.(1261-1263)afs		zinc finger protein 28																																				SO:0001589	frameshift_variant	7576				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53303676_53303677delTT	X52355	CCDS33093.1, CCDS33093.2	19q13.41	2013-01-08	2006-05-10		ENSG00000198538	ENSG00000198538		"Zinc fingers, C2H2-type", "-"	13073	protein-coding gene	gene with protein product			"zinc finger protein 28 (KOX 24)"				Standard	NR_036599		Approved	KOX24, DKFZp781D0275	uc002qad.3	P17035	OTTHUMG00000154564	ENST00000457749.2:c.1421_1422delAA	19.37:g.53303676_53303677delTT	ENSP00000397693:p.Lys474fs					ZNF28_ENST00000360272.4_Frame_Shift_Del_p.K421fs|ZNF28_ENST00000414252.2_Frame_Shift_Del_p.K421fs|ZNF28_ENST00000457749.2_Frame_Shift_Del_p.K474fs	p.K421fs			P17035	ZNF28_HUMAN		GBM - Glioblastoma multiforme(134;0.0386)|Lung(386;0.145)	2	2155_2156	-			474					A8KAK9|B4E3G0|B9EIK7|Q5H9V1|Q5HYM9|Q6ZML9|Q6ZN56	Frame_Shift_Del	DEL	ENST00000457749.2	37	c.1262_1263delAA	CCDS33093.2																																																																																				0.386	ZNF28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336038.2	NM_006969		15	163						15	163	---	---	---	---	-	53303677	TT	-	53303676	7	5	266	1	0	1	0	1	0	0	0	0	17810	1606	56	0	738	0	ZNF28	19	53303676	Frame_Shift_Del	DEL	TT	TCGA-J4-A67M-01A-11D-A30E-08		53303676	5825307	40	12483											
SPO11	23626	broad.mit.edu	37	chr20	55914070	55914070	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaaataatgtgcatctataaGtatggatctatggtaagtat	15	14	9	3	0	2	0	0	0	2	0	2	2	2	1	0	2	1	4	0	2	8	7			TCGA-J4-A67M-01A-11D-A30E-08	TCGA-J4-A67M-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da36622f-b6d4-427f-b233-ed97fc76abc5	085bf8ec-1841-4a4b-81c2-3ea1da79c1ed	g.chr20:55914070G>A	ENST00000371263.3	+	10	979	c.870G>A	c.(868-870)aaG>aaA	p.K290K	SPO11_ENST00000371260.4_Silent_p.K248K|SPO11_ENST00000345868.4_Silent_p.K252K	NM_012444.2	NP_036576.1	Q9Y5K1	SPO11_HUMAN	SPO11 meiotic protein covalently bound to DSB	290					DNA catabolic process, endonucleolytic (GO:0000737)|female gamete generation (GO:0007292)|male meiosis I (GO:0007141)|ovarian follicle development (GO:0001541)|protein localization to chromosome (GO:0034502)|reciprocal meiotic recombination (GO:0007131)|spermatid development (GO:0007286)|spermatogenesis (GO:0007283)|synapsis (GO:0007129)	chromosome, telomeric region (GO:0000781)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|hydrolase activity (GO:0016787)			autonomic_ganglia(1)|breast(3)|large_intestine(4)|lung(8)|skin(2)	18	Lung NSC(12;0.0066)|all_lung(29;0.0188)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(4;1.73e-14)|Epithelial(14;9.02e-10)|all cancers(14;9.31e-09)			GCATCTATAAGTATGGATCTA	0.274								Editing and processing nucleases																														ENST00000371263.3																			0				autonomic_ganglia(1)|breast(3)|large_intestine(4)|lung(8)|skin(2)	18						c.(868-870)aaG>aaA	Editing and processing nucleases	SPO11 meiotic protein covalently bound to DSB							57	63	61					20																	55914070		2200	4295	6495	SO:0001819	synonymous_variant	23626				female gamete generation|reciprocal meiotic recombination	chromosome|nucleus	ATP binding|DNA binding|hydrolase activity	g.chr20:55914070G>A	AF169385	CCDS13456.1, CCDS13457.1	20q13.31	2013-06-05	2013-06-05		ENSG00000054796	ENSG00000054796			11250	protein-coding gene	gene with protein product	"cancer/testis antigen 35", "spermatogenesis associated 43"	605114	"SPO11, meiotic protein covalently bound to DSB (S. cerevisiae)-like", "SPO11 meiotic protein covalently bound to DSB-like (S. cerevisiae)", "SPO11 meiotic protein covalently bound to DSB homolog (S. cerevisiae)"			10534401	Standard	NM_012444		Approved	CT35, SPATA43, TOPVIA	uc002xye.3	Q9Y5K1	OTTHUMG00000032817	ENST00000371263.3:c.870G>A	20.37:g.55914070G>A						SPO11_ENST00000371260.4_Silent_p.K248K|SPO11_ENST00000345868.4_Silent_p.K252K	p.K290K	NM_012444.2	NP_036576.1	Q9Y5K1	SPO11_HUMAN	BRCA - Breast invasive adenocarcinoma(4;1.73e-14)|Epithelial(14;9.02e-10)|all cancers(14;9.31e-09)		10	979	+	Lung NSC(12;0.0066)|all_lung(29;0.0188)|Melanoma(10;0.242)		290					Q5TCI1|Q8N4V0|Q9NQM7|Q9NQM8	Silent	SNP	ENST00000371263.3	37	c.870G>A	CCDS13456.1																																																																																				0.274	SPO11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079836.2	NM_012444		4	43	0	0	0	1	0	4	43					A	55914070	G	A	55914070	2	1	266	1	0	0	0	0	0	0	0	1	15076	1020	36	3		3	SPO11	20	55914070	Silent	SNP	G	TCGA-J4-A67M-01A-11D-A30E-08		55914070	7111450	41	12484											
NCAM2	4685	broad.mit.edu	37	chr21	22804447	22804447	+	Nonsense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacgtgccatccagtccctaTggagtgaagatcatagagct	11	9	11	10	1	1	3	1	1	0	2	3	5	3	4	3	1	2	1	3	1	3	2	rs368831351		TCGA-J4-A67M-01A-11D-A30E-08	TCGA-J4-A67M-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da36622f-b6d4-427f-b233-ed97fc76abc5	085bf8ec-1841-4a4b-81c2-3ea1da79c1ed	g.chr21:22804447T>A	ENST00000400546.1	+	12	1749	c.1500T>A	c.(1498-1500)taT>taA	p.Y500*	NCAM2_ENST00000284894.7_Nonsense_Mutation_p.Y358*	NM_004540.3	NP_004531.2	O15394	NCAM2_HUMAN	neural cell adhesion molecule 2	500	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axonal fasciculation (GO:0007413)|neuron cell-cell adhesion (GO:0007158)|sensory perception of smell (GO:0007608)	axon (GO:0030424)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(4)|cervix(2)|endometrium(8)|kidney(6)|large_intestine(22)|liver(4)|lung(49)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	108		Lung NSC(9;0.195)		all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174)		CCAGTCCCTATGGAGTGAAGA	0.448																																						ENST00000400546.1																			0				breast(4)|cervix(2)|endometrium(8)|kidney(6)|large_intestine(22)|liver(4)|lung(49)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	108						c.(1498-1500)taT>taA		neural cell adhesion molecule 2							66	62	64					21																	22804447		1917	4129	6046	SO:0001587	stop_gained	4685				neuron cell-cell adhesion	integral to membrane|plasma membrane		g.chr21:22804447T>A		CCDS42910.1	21q21	2013-02-11			ENSG00000154654	ENSG00000154654		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	7657	protein-coding gene	gene with protein product		602040				9226371	Standard	NM_004540		Approved	NCAM21, MGC51008	uc002yld.2	O15394	OTTHUMG00000078121	ENST00000400546.1:c.1500T>A	21.37:g.22804447T>A	ENSP00000383392:p.Tyr500*					NCAM2_ENST00000284894.7_Nonsense_Mutation_p.Y358*	p.Y500*	NM_004540.3	NP_004531.2	O15394	NCAM2_HUMAN		all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174)	12	1749	+		Lung NSC(9;0.195)	500			Fibronectin type-III 1.		A8MQ06|B7Z841|Q7Z7F2	Nonsense_Mutation	SNP	ENST00000400546.1	37	c.1500T>A	CCDS42910.1	.	.	.	.	.	.	.	.	.	.	T	40	8.048062	0.98627	.	.	ENSG00000154654	ENST00000400546;ENST00000284894	.	.	.	5.27	0.325	0.15903	.	0.297977	0.38436	N	0.001687	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-4.186	8.6312	0.33919	0.0:0.3118:0.0:0.6882	.	.	.	.	X	500;358	.	ENSP00000284894:Y358X	Y	+	3	2	NCAM2	21726318	0.922000	0.31269	0.997000	0.53966	0.929000	0.56500	-0.161000	0.10026	0.031000	0.15407	-0.484000	0.04775	TAT		0.448	NCAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000170915.1	NM_004540		11	58	0	0	0	1	0	11	58					A	22804447	T	A	22804447	4	1	266	1	0	0	0	0	0	1	0	0	10203	1471	51	5	1546	5	NCAM2	21	22804447	Nonsense_Mutation	SNP	T	TCGA-J4-A67M-01A-11D-A30E-08		22804447	25325448	42	12485											
SYNJ1	8867	broad.mit.edu	37	chr21	34058198	34058198	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaattcaccatctggatatcAgcagcatgttcagaagcttt	13	12	7	9	0	4	1	3	0	1	1	4	2	4	2	1	1	3	4	1	1	3	4			TCGA-J4-A67M-01A-11D-A30E-08	TCGA-J4-A67M-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da36622f-b6d4-427f-b233-ed97fc76abc5	085bf8ec-1841-4a4b-81c2-3ea1da79c1ed	g.chr21:34058198A>G	ENST00000322229.7	-	8	977	c.978T>C	c.(976-978)gcT>gcC	p.A326A	SYNJ1_ENST00000382491.3_Silent_p.A326A|SYNJ1_ENST00000357345.3_Silent_p.A326A|SYNJ1_ENST00000433931.2_Silent_p.A365A|SYNJ1_ENST00000382499.2_Silent_p.A365A			O43426	SYNJ1_HUMAN	synaptojanin 1	326	SAC. {ECO:0000255|PROSITE- ProRule:PRU00183}.				cell death (GO:0008219)|inositol phosphate metabolic process (GO:0043647)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|positive regulation of synaptic vesicle uncoating (GO:1903390)|regulation of synaptic vesicle membrane organization (GO:1901632)|small molecule metabolic process (GO:0044281)|synaptic vesicle endocytosis (GO:0048488)	cytosol (GO:0005829)	inositol-polyphosphate 5-phosphatase activity (GO:0004445)|nucleotide binding (GO:0000166)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)|RNA binding (GO:0003723)			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|lung(11)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	57						TCTGGATATCAGCAGCATGTT	0.333																																						ENST00000382499.2																			0				breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|lung(11)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	57						c.(1093-1095)gcT>gcC		synaptojanin 1							87	83	85					21																	34058198		2203	4300	6503	SO:0001819	synonymous_variant	8867						inositol-polyphosphate 5-phosphatase activity|nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding	g.chr21:34058198A>G	AF009040	CCDS33539.1, CCDS33540.1, CCDS33539.2, CCDS33540.2, CCDS54483.1	21q22.2	2008-06-23			ENSG00000159082	ENSG00000159082			11503	protein-coding gene	gene with protein product		604297				9428629, 10773674	Standard	NM_203446		Approved	INPP5G	uc002yqh.2	O43426	OTTHUMG00000064926	ENST00000322229.7:c.978T>C	21.37:g.34058198A>G						SYNJ1_ENST00000322229.7_Silent_p.A326A|SYNJ1_ENST00000382491.3_Silent_p.A326A|SYNJ1_ENST00000433931.2_Silent_p.A365A|SYNJ1_ENST00000357345.3_Silent_p.A326A	p.A365A	NM_203446.2	NP_982271.2	O43426	SYNJ1_HUMAN			9	1094	-			326			SAC.		O43425|O94984|Q4KMR1	Silent	SNP	ENST00000322229.7	37	c.1095T>C	CCDS54484.1																																																																																				0.333	SYNJ1-201	KNOWN	basic|CCDS	protein_coding	protein_coding				14	49	0	0	0	1	0	14	49					G	34058198	A	G	34058198	2	3	266	1	0	0	0	0	0	0	0	1	15449	175	7	4		4	SYNJ1	21	34058198	Silent	SNP	A	TCGA-J4-A67M-01A-11D-A30E-08	11253751	34058198	14071697	43	12486											
SNAP29	9342	broad.mit.edu	37	chr22	21213458	21213458	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gacggggaggacgaaggcgcCcggccggccccttggaggga	7	2	20	12	5	0	0	0	0	0	0	0	6	0	4	4	8	0	0	4	8	1	1			TCGA-J4-A67M-01A-11D-A30E-08	TCGA-J4-A67M-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da36622f-b6d4-427f-b233-ed97fc76abc5	085bf8ec-1841-4a4b-81c2-3ea1da79c1ed	g.chr22:21213458C>T	ENST00000215730.7	+	1	188	c.60C>T	c.(58-60)gcC>gcT	p.A20A	PI4KA_ENST00000572273.1_5'Flank|PI4KA_ENST00000255882.6_5'Flank	NM_004782.3	NP_004773.1	O95721	SNP29_HUMAN	synaptosomal-associated protein, 29kDa	20					autophagic vacuole fusion (GO:0000046)|exocytosis (GO:0006887)|membrane fusion (GO:0061025)|protein transport (GO:0015031)|vesicle targeting (GO:0006903)	cell junction (GO:0030054)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|SNARE complex (GO:0031201)|synapse (GO:0045202)	SNAP receptor activity (GO:0005484)			breast(1)|endometrium(1)|large_intestine(5)|lung(1)|upper_aerodigestive_tract(1)	9	all_cancers(11;2.77e-25)|all_epithelial(7;8.92e-24)|Lung NSC(8;1.49e-15)|all_lung(8;2.54e-14)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000592)|Lung(15;0.0117)			ACGAAGGCGCCCGGCCGGCCC	0.692																																						ENST00000215730.6																			0				breast(1)|endometrium(1)|large_intestine(5)|lung(1)|upper_aerodigestive_tract(1)	9						c.(58-60)gcC>gcT		synaptosomal-associated protein, 29kDa							8	11	10					22																	21213458		2174	4267	6441	SO:0001819	synonymous_variant	9342				cellular membrane fusion|exocytosis|protein transport|vesicle targeting	cell junction|cytoplasm|nucleus|synapse|synaptosome	SNAP receptor activity	g.chr22:21213458C>T	AF115436	CCDS13784.1	22q11.21	2008-06-10	2002-08-29		ENSG00000099940	ENSG00000099940			11133	protein-coding gene	gene with protein product	"soluble 29 kDa NSF attachment protein"	604202	"synaptosomal-associated protein, 29kD"			9852078, 10591208	Standard	NM_004782		Approved	SNAP-29, CEDNIK	uc011ahw.2	O95721	OTTHUMG00000150765	ENST00000215730.7:c.60C>T	22.37:g.21213458C>T							p.A20A	NM_004782.3	NP_004773.1	O95721	SNP29_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.000592)|Lung(15;0.0117)		1	188	+	all_cancers(11;2.77e-25)|all_epithelial(7;8.92e-24)|Lung NSC(8;1.49e-15)|all_lung(8;2.54e-14)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	20						Silent	SNP	ENST00000215730.7	37	c.60C>T	CCDS13784.1																																																																																				0.692	SNAP29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320000.4	NM_004782		7	37	0	0	0	1	0	7	37					T	21213458	C	T	21213458	2	4	266	1	0	0	0	0	0	0	0	1	14831	610	22	3		3	SNAP29	22	21213458	Silent	SNP	C	TCGA-J4-A67M-01A-11D-A30E-08		21213458	30091108	44	12487											
EP300	2033	broad.mit.edu	37	chr22	41573205	41573205	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	caggcccaaatgcttcgcagGaggatggccagcatgcagcg	10	5	14	12	2	0	0	0	0	0	0	1	2	0	2	2	4	4	4	2	4	1	1			TCGA-J4-A67M-01A-11D-A30E-08	TCGA-J4-A67M-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da36622f-b6d4-427f-b233-ed97fc76abc5	085bf8ec-1841-4a4b-81c2-3ea1da79c1ed	g.chr22:41573205G>T	ENST00000263253.7	+	31	6709	c.5490G>T	c.(5488-5490)agG>agT	p.R1830S	RP1-85F18.5_ENST00000420537.1_RNA|RP1-85F18.6_ENST00000415054.1_RNA	NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	1830					apoptotic process (GO:0006915)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|circadian rhythm (GO:0007623)|G2/M transition of mitotic cell cycle (GO:0000086)|heart development (GO:0007507)|histone H2B acetylation (GO:0043969)|histone H4 acetylation (GO:0043967)|innate immune response (GO:0045087)|internal peptidyl-lysine acetylation (GO:0018393)|internal protein amino acid acetylation (GO:0006475)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|lung development (GO:0030324)|mitotic cell cycle (GO:0000278)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of protein binding (GO:0032092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of cell cycle (GO:0051726)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|regulation of tubulin deacetylation (GO:0090043)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|skeletal muscle tissue development (GO:0007519)|somitogenesis (GO:0001756)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|activating transcription factor binding (GO:0033613)|androgen receptor binding (GO:0050681)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine N-acetyltransferase activity, acting on acetyl phosphate as donor (GO:0004468)|nuclear hormone receptor binding (GO:0035257)|pre-mRNA intronic binding (GO:0097157)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transferase activity, transferring acyl groups (GO:0016746)|zinc ion binding (GO:0008270)			NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						TGCTTCGCAGGAGGATGGCCA	0.602			"T,  N, F, Mis, O"	"MLL, RUNXBP2"	"colorectal, breast, pancreatic, AML, ALL, DLBCL"				Rubinstein-Taybi syndrome																													ENST00000263253.7				Rec	yes		22	22q13	2033	"T,  N, F, Mis, O"	300 kd E1A-Binding protein gene			"L, E"	"MLL, RUNXBP2"		"colorectal, breast, pancreatic, AML, ALL, DLBCL"		0				NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						c.(5488-5490)agG>agT		E1A binding protein p300							65	69	68					22																	41573205		2203	4300	6503	SO:0001583	missense	2033	Rubinstein-Taybi syndrome	Familial Cancer Database	Broad Thumb-Hallux syndrome	apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding	g.chr22:41573205G>T	U01877	CCDS14010.1	22q13.2	2011-07-01			ENSG00000100393	ENSG00000100393		"Chromatin-modifying enzymes / K-acetyltransferases"	3373	protein-coding gene	gene with protein product	"histone acetyltransferase p300"	602700				7523245	Standard	NM_001429		Approved	p300, KAT3B	uc003azl.4	Q09472	OTTHUMG00000150937	ENST00000263253.7:c.5490G>T	22.37:g.41573205G>T	ENSP00000263253:p.Arg1830Ser					RP1-85F18.5_ENST00000420537.1_RNA|RP1-85F18.6_ENST00000415054.1_RNA	p.R1830S	NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN			31	6709	+			1830					B1AKC2	Missense_Mutation	SNP	ENST00000263253.7	37	c.5490G>T	CCDS14010.1	.	.	.	.	.	.	.	.	.	.	G	12.80	2.045184	0.36085	.	.	ENSG00000100393	ENST00000263253	D	0.90197	-2.63	5.62	0.439	0.16567	.	0.000000	0.53938	D	0.000046	D	0.93726	0.7995	M	0.81497	2.545	0.40846	D	0.983711	D	0.76494	0.999	D	0.78314	0.991	D	0.92204	0.5770	10	0.87932	D	0	-10.4019	8.4469	0.32847	0.1387:0.2294:0.6319:0.0	.	1830	Q09472	EP300_HUMAN	S	1830	ENSP00000263253:R1830S	ENSP00000263253:R1830S	R	+	3	2	EP300	39903151	1.000000	0.71417	1.000000	0.80357	0.561000	0.35649	2.161000	0.42358	0.220000	0.20860	-0.219000	0.12488	AGG		0.602	EP300-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320600.1	NM_001429		13	93	1	0	5.50884e-06	1	5.77116e-06	13	93					T	41573205	G	T	41573205	3	4	266	1	0	0	0	0	1	0	0	0	5148	1165	41	5	5612	5	EP300	22	41573205	Missense_Mutation	SNP	G	TCGA-J4-A67M-01A-11D-A30E-08	20359747	41573205	9731361	45	12488											
EIF4G3	8672	broad.mit.edu	37	chr1	21329207	21329207	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caagcttctgcttacttaccGgagaacgggtttgaggttgt	8	13	12	8	2	1	2	0	1	1	1	1	3	1	2	1	3	5	4	1	3	4	5			TCGA-J4-A67N-01A-11D-A30E-08	TCGA-J4-A67N-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f07d2982-6313-4e21-a0a1-cf713daff114	f73b4226-3788-4704-acae-67420da417dd	g.chr1:21329207G>A	ENST00000264211.8	-	2	223	c.29C>T	c.(28-30)cCg>cTg	p.P10L	EIF4G3_ENST00000374935.3_Splice_Site_p.P10L|EIF4G3_ENST00000374927.4_Splice_Site_p.P10L|EIF4G3_ENST00000356916.3_Splice_Site_p.P10L|EIF4G3_ENST00000602326.1_Splice_Site_p.P10L|EIF4G3_ENST00000400422.1_Splice_Site_p.P10L|EIF4G3_ENST00000374937.3_Splice_Site_p.P10L	NM_003760.4	NP_003751.2	O43432	IF4G3_HUMAN	eukaryotic translation initiation factor 4 gamma, 3	10					cytokine-mediated signaling pathway (GO:0019221)|positive regulation of meiosis I (GO:0060903)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of translation (GO:0045727)|regulation of translational initiation (GO:0006446)|spermatogenesis (GO:0007283)|viral process (GO:0016032)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)	poly(A) RNA binding (GO:0044822)|RNA cap binding (GO:0000339)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(18)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(1)|urinary_tract(3)	70		all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191)		CTTACTTACCGGAGAACGGGT	0.448																																						ENST00000602326.1																			0				endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(18)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(1)|urinary_tract(3)	70						c.e5+1		eukaryotic translation initiation factor 4 gamma, 3							306	298	300					1																	21329207		2203	4300	6503	SO:0001630	splice_region_variant	8672				interspecies interaction between organisms|regulation of translational initiation|RNA metabolic process	eukaryotic translation initiation factor 4F complex	protein binding|RNA cap binding|translation initiation factor activity	g.chr1:21329207G>A	AF012072	CCDS214.1, CCDS55580.1, CCDS59192.1, CCDS72723.1	1p36.12	2008-02-05			ENSG00000075151	ENSG00000075151			3298	protein-coding gene	gene with protein product		603929				9418880	Standard	NM_001198801		Approved	eIF4GII	uc001bef.3	O43432	OTTHUMG00000002624	ENST00000264211.8:c.30+1C>T	1.37:g.21329207G>A						EIF4G3_ENST00000356916.3_Splice_Site_p.P10_splice|EIF4G3_ENST00000400422.1_Splice_Site_p.P10_splice|EIF4G3_ENST00000264211.8_Splice_Site_p.P10_splice|EIF4G3_ENST00000374927.4_Splice_Site_p.P10_splice|EIF4G3_ENST00000374935.3_Splice_Site_p.P10_splice|EIF4G3_ENST00000374937.3_Splice_Site_p.P10_splice	p.P10_splice	NM_001198802.1	NP_001185731.1	O43432	IF4G3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191)	5	612	-		all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256)	10					B9EGQ7|Q15597|Q504Z1|Q5SWC3|Q8NEN1	Splice_Site	SNP	ENST00000264211.8	37	c.30_splice	CCDS214.1	.	.	.	.	.	.	.	.	.	.	G	18.55	3.647342	0.67358	.	.	ENSG00000075151	ENST00000264211;ENST00000400415;ENST00000400422;ENST00000374935;ENST00000374937;ENST00000356916;ENST00000374927;ENST00000438975;ENST00000411888	T;T;T;T;T;T;T;T	0.38887	2.12;2.12;2.12;2.1;2.0;2.12;2.12;1.11	5.6	5.6	0.85130	.	0.380726	0.30051	N	0.010534	T	0.49712	0.1573	N	0.14661	0.345	0.49130	D	0.999752	D;D;D;D;D	0.89917	1.0;1.0;0.986;1.0;1.0	D;D;P;D;D	0.91635	0.999;0.988;0.455;0.998;0.997	T	0.54583	-0.8272	10	0.52906	T	0.07	-9.397	17.8508	0.88747	0.0:0.0:1.0:0.0	.	10;10;125;10;10	B4DXR2;Q504Z1;B1AN89;B9EGQ7;O43432	.;.;.;.;IF4G3_HUMAN	L	10;200;10;10;10;125;10;10;10	ENSP00000264211:P10L;ENSP00000383274:P10L;ENSP00000364071:P10L;ENSP00000364073:P10L;ENSP00000349386:P125L;ENSP00000364062:P10L;ENSP00000395381:P10L;ENSP00000396083:P10L	ENSP00000264211:P10L	P	-	2	0	EIF4G3	21201794	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.669000	0.74462	2.641000	0.89580	0.650000	0.86243	CCG		0.448	EIF4G3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000007467.3	NM_003760	Missense_Mutation	13	248	0	0	0	1	0	13	248					A	21329207	G	A	21329207	5	1	267	1	0	0	0	0	0	0	1	0	5038	1130	39	2	4848	2	EIF4G3	1	21329207	Splice_Site	SNP	G	TCGA-J4-A67N-01A-11D-A30E-08		21329207	227921414	1	12489											
GJA4	2701	broad.mit.edu	37	chr1	35260022	35260022	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acgtctgctatgaccaggccTtccccatctcccacatccgc	7	9	6	19	2	2	1	0	1	2	0	5	1	4	1	6	1	1	1	6	1	1	2			TCGA-J4-A67N-01A-11D-A30E-08	TCGA-J4-A67N-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f07d2982-6313-4e21-a0a1-cf713daff114	f73b4226-3788-4704-acae-67420da417dd	g.chr1:35260022T>G	ENST00000342280.4	+	2	296	c.208T>G	c.(208-210)Ttc>Gtc	p.F70V		NM_002060.2	NP_002051.2	P35212	CXA4_HUMAN	gap junction protein, alpha 4, 37kDa	70					blood vessel development (GO:0001568)|calcium ion transport (GO:0006816)|cell-cell junction assembly (GO:0007043)|cell-cell signaling (GO:0007267)|endothelium development (GO:0003158)|response to pain (GO:0048265)|transport (GO:0006810)	connexon complex (GO:0005922)|gap junction (GO:0005921)|integral component of plasma membrane (GO:0005887)				NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(3)|prostate(4)|stomach(1)	14		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.234)				TGACCAGGCCTTCCCCATCTC	0.607																																						ENST00000342280.4																			0				NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(3)|prostate(4)|stomach(1)	14						c.(208-210)Ttc>Gtc		gap junction protein, alpha 4, 37kDa							134	114	121					1																	35260022		2203	4300	6503	SO:0001583	missense	2701				cell-cell junction assembly	integral to plasma membrane		g.chr1:35260022T>G	M96789	CCDS30669.1	1p35.1	2008-02-05	2007-01-16		ENSG00000187513	ENSG00000187513		"Ion channels / Gap junction proteins (connexins)"	4278	protein-coding gene	gene with protein product	"connexin 37"	121012	"gap junction protein, alpha 4, 37kD (connexin 37)", "gap junction protein, alpha 4, 37kDa (connexin 37)"			9843209, 7680674	Standard	XM_005270750		Approved	CX37	uc001bya.3	P35212	OTTHUMG00000004050	ENST00000342280.4:c.208T>G	1.37:g.35260022T>G	ENSP00000343676:p.Phe70Val						p.F70V	NM_002060.2	NP_002051.2	P35212	CXA4_HUMAN			2	296	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.234)	70					A8K698|D3DPR4|Q9P106|Q9UBL1|Q9UNA9|Q9UNB0|Q9UNB1|Q9Y5N7	Missense_Mutation	SNP	ENST00000342280.4	37	c.208T>G	CCDS30669.1	.	.	.	.	.	.	.	.	.	.	T	24.5	4.542379	0.85917	.	.	ENSG00000187513	ENST00000342280;ENST00000450137;ENST00000543143	D;D	0.99186	-5.53;-5.53	5.48	5.48	0.80851	Connexin, N-terminal (2);	0.000000	0.85682	D	0.000000	D	0.99527	0.9831	H	0.95884	3.735	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.85130	0.995;0.997	D	0.98019	1.0370	10	0.87932	D	0	.	15.5702	0.76330	0.0:0.0:0.0:1.0	.	70;70	Q5JW71;P35212	.;CXA4_HUMAN	V	70	ENSP00000343676:F70V;ENSP00000409186:F70V	ENSP00000343676:F70V	F	+	1	0	GJA4	35032609	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.991000	0.88244	2.060000	0.61445	0.533000	0.62120	TTC		0.607	GJA4-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011556.1	NM_002060		5	112	0	0	0	1	0	5	112					G	35260022	T	G	35260022	3	3	267	1	0	0	0	0	1	0	0	0	6403	1609	56	5	210	5	GJA4	1	35260022	Missense_Mutation	SNP	T	TCGA-J4-A67N-01A-11D-A30E-08	13930815	35260022	213990599	2	12490											
SORT1	6272	broad.mit.edu	37	chr1	109867585	109867585	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cactggctggtcaggaaagaTtctgtgaagccccaaatgct	11	9	11	10	0	2	2	1	1	1	1	2	3	2	3	2	3	2	2	2	3	3	1			TCGA-J4-A67N-01A-11D-A30E-08	TCGA-J4-A67N-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f07d2982-6313-4e21-a0a1-cf713daff114	f73b4226-3788-4704-acae-67420da417dd	g.chr1:109867585T>G	ENST00000256637.6	-	14	1828	c.1770A>C	c.(1768-1770)gaA>gaC	p.E590D	SORT1_ENST00000538502.1_Missense_Mutation_p.E453D	NM_002959.5	NP_002950.3	Q99523	SORT_HUMAN	sortilin 1	590					endocytosis (GO:0006897)|endosome to lysosome transport (GO:0008333)|endosome transport via multivesicular body sorting pathway (GO:0032509)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose import (GO:0046323)|Golgi to endosome transport (GO:0006895)|multicellular organismal development (GO:0007275)|myotube differentiation (GO:0014902)|negative regulation of lipoprotein lipase activity (GO:0051005)|nerve growth factor signaling pathway (GO:0038180)|neuropeptide signaling pathway (GO:0007218)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|plasma membrane to endosome transport (GO:0048227)|regulation of gene expression (GO:0010468)|response to insulin (GO:0032868)|vesicle organization (GO:0016050)	cell surface (GO:0009986)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasmic membrane-bounded vesicle (GO:0016023)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|trans-Golgi network transport vesicle (GO:0030140)	enzyme binding (GO:0019899)|nerve growth factor binding (GO:0048406)|nerve growth factor receptor activity (GO:0010465)|neurotensin receptor activity, non-G-protein coupled (GO:0030379)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(2)|prostate(1)|skin(1)	26		all_epithelial(167;4.69e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Lung(183;0.0529)|Colorectal(144;0.142)|Epithelial(280;0.145)|Kidney(133;0.169)|all cancers(265;0.184)		TCAGGAAAGATTCTGTGAAGC	0.463																																						ENST00000256637.6																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(2)|prostate(1)|skin(1)	26						c.(1768-1770)gaA>gaC		sortilin 1							96	99	98					1																	109867585		2203	4300	6503	SO:0001583	missense	6272				endocytosis|endosome to lysosome transport|endosome transport via multivesicular body sorting pathway|glucose import|Golgi to endosome transport|induction of apoptosis by extracellular signals|myotube differentiation|negative regulation of apoptosis|negative regulation of lipoprotein lipase activity|neuropeptide signaling pathway|ossification|plasma membrane to endosome transport|regulation of gene expression|response to insulin stimulus|vesicle organization	cell surface|coated pit|early endosome|endoplasmic reticulum membrane|endosome membrane|Golgi cisterna membrane|integral to membrane|lysosomal membrane|microsome|nuclear membrane|perinuclear region of cytoplasm|plasma membrane	enzyme binding|nerve growth factor binding|nerve growth factor receptor activity|neurotensin receptor activity, non-G-protein coupled	g.chr1:109867585T>G	BC023542	CCDS798.1, CCDS55618.1	1p13.3	2008-05-14			ENSG00000134243	ENSG00000134243			11186	protein-coding gene	gene with protein product		602458					Standard	NM_002959		Approved	Gp95, NT3	uc001dxm.2	Q99523	OTTHUMG00000011999	ENST00000256637.6:c.1770A>C	1.37:g.109867585T>G	ENSP00000256637:p.Glu590Asp					SORT1_ENST00000538502.1_Missense_Mutation_p.E453D	p.E590D	NM_002959.5	NP_002950.3	Q99523	SORT_HUMAN		Lung(183;0.0529)|Colorectal(144;0.142)|Epithelial(280;0.145)|Kidney(133;0.169)|all cancers(265;0.184)	14	1828	-		all_epithelial(167;4.69e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)	590					B4DWI3|C0JYZ0|Q8IZ49	Missense_Mutation	SNP	ENST00000256637.6	37	c.1770A>C	CCDS798.1	.	.	.	.	.	.	.	.	.	.	T	11.40	1.628451	0.28978	.	.	ENSG00000134243	ENST00000256637;ENST00000538502	T;T	0.21932	1.98;1.98	5.73	-2.64	0.06114	VPS10 (1);	0.518564	0.21655	N	0.071117	T	0.01061	0.0035	N	0.00879	-1.12	0.30728	N	0.747477	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.38200	-0.9672	10	0.14656	T	0.56	-12.8366	2.9021	0.05709	0.1252:0.39:0.1291:0.3556	.	453;590	B4DWI3;Q99523	.;SORT_HUMAN	D	590;453	ENSP00000256637:E590D;ENSP00000438597:E453D	ENSP00000256637:E590D	E	-	3	2	SORT1	109669108	0.206000	0.23470	0.950000	0.38849	0.942000	0.58702	-0.518000	0.06267	-0.777000	0.04572	-0.466000	0.05196	GAA		0.463	SORT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033179.1	NM_002959		22	23	0	0	0	1	0	22	23					G	109867585	T	G	109867585	3	3	267	1	0	0	0	0	1	0	0	0	14935	1490	52	5	753	5	SORT1	1	109867585	Missense_Mutation	SNP	T	TCGA-J4-A67N-01A-11D-A30E-08	74607563	109867585	139383036	3	12491											
EFEMP1	2202	broad.mit.edu	37	chr2	56104979	56104979	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atctttggtggcaatatggaGggatggtacattcatctatg	10	14	12	5	0	3	0	1	0	2	0	3	2	3	2	0	5	1	2	0	5	4	5			TCGA-J4-A67N-01A-11D-A30E-08	TCGA-J4-A67N-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f07d2982-6313-4e21-a0a1-cf713daff114	f73b4226-3788-4704-acae-67420da417dd	g.chr2:56104979G>A	ENST00000394555.2	-	6	1097	c.662C>T	c.(661-663)cCt>cTt	p.P221L	EFEMP1_ENST00000394554.1_Missense_Mutation_p.P221L|EFEMP1_ENST00000424836.2_Intron|EFEMP1_ENST00000355426.3_Missense_Mutation_p.P221L	NM_001039348.2|NM_001039349.2	NP_001034437.1|NP_001034438.1	Q12805	FBLN3_HUMAN	EGF containing fibulin-like extracellular matrix protein 1	221	EGF-like 3; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				epidermal growth factor receptor signaling pathway (GO:0007173)|extracellular matrix organization (GO:0030198)|negative regulation of chondrocyte differentiation (GO:0032331)|peptidyl-tyrosine phosphorylation (GO:0018108)|regulation of transcription, DNA-templated (GO:0006355)|visual perception (GO:0007601)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|epidermal growth factor receptor binding (GO:0005154)|epidermal growth factor-activated receptor activity (GO:0005006)			NS(1)|breast(2)|endometrium(4)|large_intestine(6)|lung(5)|ovary(5)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			GCAATATGGAGGGATGGTACA	0.408																																					GBM(92;934 1319 7714 28760 40110)	ENST00000394555.2																			0				NS(1)|breast(2)|endometrium(4)|large_intestine(6)|lung(5)|ovary(5)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28						c.(661-663)cCt>cTt		EGF containing fibulin-like extracellular matrix protein 1							200	187	191					2																	56104979		2203	4300	6503	SO:0001583	missense	2202				negative regulation of chondrocyte differentiation|peptidyl-tyrosine phosphorylation|regulation of transcription, DNA-dependent|visual perception	extracellular space|proteinaceous extracellular matrix	calcium ion binding|epidermal growth factor receptor activity|epidermal growth factor receptor binding|growth factor activity	g.chr2:56104979G>A	U03877	CCDS1857.1	2p16	2013-01-08	2011-01-25		ENSG00000115380	ENSG00000115380		"Fibulins"	3218	protein-coding gene	gene with protein product	"fibulin 3"	601548	"fibrillin-like", "EGF-containing fibulin-like extracellular matrix protein 1"	DHRD, FBNL		8812496, 7799918	Standard	NM_001039348		Approved	S1-5, FBLN3, MTLV	uc002rzi.3	Q12805	OTTHUMG00000129343	ENST00000394555.2:c.662C>T	2.37:g.56104979G>A	ENSP00000378058:p.Pro221Leu					EFEMP1_ENST00000424836.2_Intron|EFEMP1_ENST00000355426.3_Missense_Mutation_p.P221L|EFEMP1_ENST00000394554.1_Missense_Mutation_p.P221L	p.P221L	NM_001039348.2|NM_001039349.2	NP_001034437.1|NP_001034438.1	Q12805	FBLN3_HUMAN	LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)		6	1097	-			221			EGF-like 3; calcium-binding (Potential).		A8K3I4|B4DW75|D6W5D2|Q541U7	Missense_Mutation	SNP	ENST00000394555.2	37	c.662C>T	CCDS1857.1	.	.	.	.	.	.	.	.	.	.	G	12.77	2.037171	0.35893	.	.	ENSG00000115380	ENST00000394555;ENST00000394554;ENST00000405693;ENST00000355426	D;D;D	0.87966	-2.32;-2.32;-2.32	5.87	5.87	0.94306	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.64402	D	0.000006	D	0.85622	0.5739	L	0.52823	1.66	0.80722	D	1	B	0.24258	0.1	B	0.21151	0.033	T	0.80162	-0.1497	10	0.30854	T	0.27	.	20.2181	0.98305	0.0:0.0:1.0:0.0	.	221	Q12805	FBLN3_HUMAN	L	221;221;77;221	ENSP00000378058:P221L;ENSP00000378057:P221L;ENSP00000347596:P221L	ENSP00000347596:P221L	P	-	2	0	EFEMP1	55958483	1.000000	0.71417	0.999000	0.59377	0.972000	0.66771	4.855000	0.62925	2.785000	0.95823	0.655000	0.94253	CCT		0.408	EFEMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251491.2			51	115	0	0	0	1	0	51	115					A	56104979	G	A	56104979	3	1	267	1	0	0	0	0	1	0	0	0	4941	1000	35	3	843	3	EFEMP1	2	56104979	Missense_Mutation	SNP	G	TCGA-J4-A67N-01A-11D-A30E-08		56104979	187094394	4	12492											
ALMS1	7840	broad.mit.edu	37	chr2	73646386	73646386	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctggaggagggcatattgAcgcaatcagaaaatcaagta	15	8	11	7	1	3	2	2	1	1	1	3	4	3	4	0	3	0	3	0	3	6	3			TCGA-J4-A67N-01A-11D-A30E-08	TCGA-J4-A67N-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f07d2982-6313-4e21-a0a1-cf713daff114	f73b4226-3788-4704-acae-67420da417dd	g.chr2:73646386A>G	ENST00000264448.6	+	3	697	c.586A>G	c.(586-588)Acg>Gcg	p.T196A	ALMS1_ENST00000409009.1_Missense_Mutation_p.T154A|ALMS1_ENST00000377715.1_Missense_Mutation_p.T196A	NM_015120.4	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	196					endosomal transport (GO:0016197)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of stress fiber assembly (GO:0051492)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						GGGCATATTGACGCAATCAGA	0.428																																						ENST00000264448.6																			0				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						c.(586-588)Acg>Gcg		Alstrom syndrome 1							140	135	137					2																	73646386		1844	4099	5943	SO:0001583	missense	7840				G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole		g.chr2:73646386A>G	AB002326	CCDS42697.1	2p13.1	2014-09-17			ENSG00000116127	ENSG00000116127			428	protein-coding gene	gene with protein product		606844				9063741	Standard	NM_015120		Approved	KIAA0328	uc002sje.1	Q8TCU4	OTTHUMG00000152812	ENST00000264448.6:c.586A>G	2.37:g.73646386A>G	ENSP00000264448:p.Thr196Ala					ALMS1_ENST00000409009.1_Missense_Mutation_p.T154A|ALMS1_ENST00000377715.1_Missense_Mutation_p.T196A	p.T196A	NM_015120.4	NP_055935.4	Q8TCU4	ALMS1_HUMAN			3	697	+			196					Q53S05|Q580Q8|Q86VP9|Q9Y4G4	Missense_Mutation	SNP	ENST00000264448.6	37	c.586A>G	CCDS42697.1	.	.	.	.	.	.	.	.	.	.	A	4.218	0.039195	0.08148	.	.	ENSG00000116127	ENST00000409009;ENST00000264448;ENST00000377715	T;T;T	0.13901	3.43;3.43;2.55	4.51	2.13	0.27403	.	0.882509	0.09434	N	0.802773	T	0.11196	0.0273	L	0.36672	1.1	0.09310	N	1	B;B	0.19331	0.035;0.035	B;B	0.17722	0.019;0.019	T	0.32903	-0.9889	10	0.51188	T	0.08	.	5.6663	0.17697	0.7722:0.0:0.2278:0.0	.	154;196	B8ZZJ3;Q8TCU4	.;ALMS1_HUMAN	A	154;196;196	ENSP00000386627:T154A;ENSP00000264448:T196A;ENSP00000366944:T196A	ENSP00000264448:T196A	T	+	1	0	ALMS1	73499894	0.354000	0.24912	0.023000	0.16930	0.272000	0.26649	1.353000	0.34045	0.351000	0.24027	0.533000	0.62120	ACG		0.428	ALMS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000327776.1	NM_015120		4	80	0	0	0	1	0	4	80					G	73646386	A	G	73646386	3	3	267	1	0	0	0	0	1	0	0	0	535	275	10	4	596	4	ALMS1	2	73646386	Missense_Mutation	SNP	A	TCGA-J4-A67N-01A-11D-A30E-08	17541407	73646386	169552987	5	12493											
NCAPH	23397	broad.mit.edu	37	chr2	97019969	97019969	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaagaatgaccaggtatttGacatcaatgctgaagttgac	15	10	10	6	0	1	6	1	4	0	2	1	6	1	6	1	1	1	3	1	1	5	3			TCGA-J4-A67N-01A-11D-A30E-08	TCGA-J4-A67N-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f07d2982-6313-4e21-a0a1-cf713daff114	f73b4226-3788-4704-acae-67420da417dd	g.chr2:97019969G>T	ENST00000240423.4	+	9	1094	c.1051G>T	c.(1051-1053)Gac>Tac	p.D351Y	NCAPH_ENST00000427946.1_Missense_Mutation_p.D215Y|NCAPH_ENST00000455200.1_Missense_Mutation_p.D340Y	NM_001281710.1|NM_001281711.1|NM_015341.3	NP_001268639.1|NP_001268640.1|NP_056156.2	Q15003	CND2_HUMAN	non-SMC condensin I complex, subunit H	351					mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	condensin complex (GO:0000796)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Ovarian(717;0.0221)				CCAGGTATTTGACATCAATGC	0.493																																						ENST00000455200.1																			0				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						c.(1018-1020)Gac>Tac		non-SMC condensin I complex, subunit H							175	173	174					2																	97019969		2203	4300	6503	SO:0001583	missense	23397				cell division|mitotic chromosome condensation	condensin complex|cytoplasm|microtubule cytoskeleton|nucleus		g.chr2:97019969G>T	BC024211	CCDS2021.1, CCDS62960.1	2q11.2	2008-02-05	2006-09-04	2006-09-04	ENSG00000121152	ENSG00000121152			1112	protein-coding gene	gene with protein product		602332	"barren (Drosophila) homolog", "barren homolog (Drosophila)", "barren homolog 1 (Drosophila)"	BRRN1		9417923	Standard	NM_015341		Approved	CAP-H, hCAP-H	uc002svz.1	Q15003	OTTHUMG00000130451	ENST00000240423.4:c.1051G>T	2.37:g.97019969G>T	ENSP00000240423:p.Asp351Tyr					NCAPH_ENST00000240423.4_Missense_Mutation_p.D351Y|NCAPH_ENST00000427946.1_Missense_Mutation_p.D215Y	p.D340Y			Q15003	CND2_HUMAN			9	1313	+		Ovarian(717;0.0221)	351					B4E189|Q8TB87	Missense_Mutation	SNP	ENST00000240423.4	37	c.1018G>T	CCDS2021.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.990758	0.74589	.	.	ENSG00000121152	ENST00000240423;ENST00000427946;ENST00000435975;ENST00000455200	T;T;T;T	0.66099	-0.19;-0.19;-0.19;-0.19	5.38	5.38	0.77491	.	0.000000	0.85682	D	0.000000	T	0.80481	0.4631	M	0.80847	2.515	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	T	0.83086	-0.0135	10	0.87932	D	0	-26.7825	16.6203	0.84928	0.0:0.0:1.0:0.0	.	327;340;340;351	B4DRG7;E9PHA2;C9J470;Q15003	.;.;.;CND2_HUMAN	Y	351;215;340;340	ENSP00000240423:D351Y;ENSP00000400774:D215Y;ENSP00000405237:D340Y;ENSP00000407308:D340Y	ENSP00000240423:D351Y	D	+	1	0	NCAPH	96383696	1.000000	0.71417	0.547000	0.28179	0.815000	0.46073	5.641000	0.67881	2.534000	0.85438	0.561000	0.74099	GAC		0.493	NCAPH-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252842.2	NM_015341		56	147	1	0	1.72845e-40	1	1.99147e-40	56	147					T	97019969	G	T	97019969	3	4	267	1	0	0	0	0	1	0	0	0	10209	1290	45	5	1085	5	NCAPH	2	97019969	Missense_Mutation	SNP	G	TCGA-J4-A67N-01A-11D-A30E-08	23373583	97019969	146179404	6	12494											
SLC11A1	6556	broad.mit.edu	37	chr2	219259418	219259418	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gccatcaacctctacttcgtGgtcagctatctgcccagcct	7	11	7	16	1	4	0	2	0	2	0	5	0	4	0	4	1	5	1	4	1	3	3			TCGA-J4-A67N-01A-11D-A30E-08	TCGA-J4-A67N-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f07d2982-6313-4e21-a0a1-cf713daff114	f73b4226-3788-4704-acae-67420da417dd	g.chr2:219259418G>T	ENST00000233202.6	+	14	1792	c.1452G>T	c.(1450-1452)gtG>gtT	p.V484V	SLC11A1_ENST00000539932.1_Silent_p.V366V	NM_000578.3	NP_000569.3	P49279	NRAM1_HUMAN	solute carrier family 11 (proton-coupled divalent metal ion transporter), member 1	484					activation of protein kinase activity (GO:0032147)|antigen processing and presentation of peptide antigen (GO:0048002)|cadmium ion transmembrane transport (GO:0070574)|cellular cadmium ion homeostasis (GO:0006876)|cellular iron ion homeostasis (GO:0006879)|defense response to bacterium (GO:0042742)|defense response to Gram-negative bacterium (GO:0050829)|defense response to protozoan (GO:0042832)|divalent metal ion export (GO:0070839)|inflammatory response (GO:0006954)|interaction with host (GO:0051701)|interleukin-2 production (GO:0032623)|interleukin-3 production (GO:0032632)|iron ion homeostasis (GO:0055072)|iron ion transport (GO:0006826)|L-arginine import (GO:0043091)|macrophage activation (GO:0042116)|manganese ion transport (GO:0006828)|MHC class II biosynthetic process (GO:0045342)|mRNA stabilization (GO:0048255)|multicellular organismal iron ion homeostasis (GO:0060586)|negative regulation of cytokine production (GO:0001818)|nitrite transport (GO:0015707)|phagocytosis (GO:0006909)|phagosome maturation (GO:0090382)|positive regulation of cytokine production (GO:0001819)|positive regulation of dendritic cell antigen processing and presentation (GO:0002606)|positive regulation of gene expression (GO:0010628)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of phagocytosis (GO:0050766)|positive regulation of T-helper 1 type immune response (GO:0002827)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein import into nucleus, translocation (GO:0000060)|respiratory burst (GO:0045730)|response to bacterium (GO:0009617)|response to interferon-gamma (GO:0034341)|response to lipopolysaccharide (GO:0032496)|T cell cytokine production (GO:0002369)|T cell proliferation involved in immune response (GO:0002309)|transmembrane transport (GO:0055085)|vacuolar acidification (GO:0007035)|wound healing (GO:0042060)	cell outer membrane (GO:0009279)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|late endosome membrane (GO:0031902)|lysosome (GO:0005764)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)|tertiary granule membrane (GO:0070821)	manganese ion transmembrane transporter activity (GO:0005384)|metal ion:proton antiporter activity (GO:0051139)|protein homodimerization activity (GO:0042803)|transition metal ion transmembrane transporter activity (GO:0046915)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	19		Renal(207;0.0474)		Epithelial(149;1.16e-06)|all cancers(144;0.000195)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TCTACTTCGTGGTCAGCTATC	0.612																																						ENST00000233202.6																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	19						c.(1450-1452)gtG>gtT		solute carrier family 11 (proton-coupled divalent metal ion transporter), member 1							137	127	130					2																	219259418		2203	4300	6503	SO:0001819	synonymous_variant	6556				activation of protein kinase activity|antigen processing and presentation of peptide antigen|cadmium ion transmembrane transport|cellular cadmium ion homeostasis|cellular iron ion homeostasis|defense response to Gram-negative bacterium|defense response to protozoan|divalent metal ion export|inflammatory response|interleukin-2 production|interleukin-3 production|iron ion transport|L-arginine import|macrophage activation|MHC class II biosynthetic process|mRNA stabilization|multicellular organismal iron ion homeostasis|negative regulation of cytokine production|nitrite transport|phagocytosis|positive regulation of dendritic cell antigen processing and presentation|positive regulation of interferon-gamma production|positive regulation of phagocytosis|positive regulation of T-helper 1 type immune response|positive regulation of transcription from RNA polymerase II promoter|respiratory burst|response to interferon-gamma|response to lipopolysaccharide|T cell cytokine production|T cell proliferation involved in immune response|vacuolar acidification|wound healing	integral to plasma membrane|late endosome membrane|lysosome|phagocytic vesicle membrane|tertiary granule membrane	manganese ion transmembrane transporter activity|metal ion:hydrogen antiporter activity|protein homodimerization activity	g.chr2:219259418G>T	D38171	CCDS2415.1	2q35	2013-07-18	2013-07-18		ENSG00000018280	ENSG00000018280		"Solute carriers"	10907	protein-coding gene	gene with protein product	"natural resistance-associated macrophage protein 1"	600266		LSH, NRAMP, NRAMP1		7964458, 7980580	Standard	NM_000578		Approved		uc002vhv.3	P49279	OTTHUMG00000086747	ENST00000233202.6:c.1452G>T	2.37:g.219259418G>T						SLC11A1_ENST00000539932.1_Silent_p.V366V	p.V484V	NM_000578.3	NP_000569.3	P49279	NRAM1_HUMAN		Epithelial(149;1.16e-06)|all cancers(144;0.000195)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	14	1792	+		Renal(207;0.0474)	484					C0H5Y3	Silent	SNP	ENST00000233202.6	37	c.1452G>T	CCDS2415.1																																																																																				0.612	SLC11A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195076.2	NM_000578		12	121	1	0	9.31168e-06	1	1.02816e-05	12	121					T	219259418	G	T	219259418	2	4	267	1	0	0	0	0	0	0	0	1	14380	1335	47	5		5	SLC11A1	2	219259418	Silent	SNP	G	TCGA-J4-A67N-01A-11D-A30E-08	122239449	219259418	23939955	7	12495											
RBM44	375316	broad.mit.edu	37	chr2	238737984	238737984	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaattcttggagaatatacaTcaccactttcctccaaaaat	16	12	3	10	0	2	1	1	0	1	1	4	2	4	1	3	1	1	0	3	1	6	5			TCGA-J4-A67N-01A-11D-A30E-08	TCGA-J4-A67N-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f07d2982-6313-4e21-a0a1-cf713daff114	f73b4226-3788-4704-acae-67420da417dd	g.chr2:238737984T>A	ENST00000409864.1	+	13	2982	c.2728T>A	c.(2728-2730)Tca>Aca	p.S910T	RBM44_ENST00000316997.4_Missense_Mutation_p.S910T			Q6ZP01	RBM44_HUMAN	RNA binding motif protein 44	909						cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)	nucleotide binding (GO:0000166)|protein homodimerization activity (GO:0042803)|RNA binding (GO:0003723)			breast(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(7)|ovary(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	33		Breast(86;0.0042)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)		Epithelial(121;3.74e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.3e-11)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000118)|Lung(119;0.0112)|LUSC - Lung squamous cell carcinoma(224;0.0266)		AGAATATACATCACCACTTTC	0.348																																						ENST00000316997.4																			0				breast(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(7)|ovary(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						c.(2728-2730)Tca>Aca		RNA binding motif protein 44							111	108	109					2																	238737984		1828	4084	5912	SO:0001583	missense	375316						nucleotide binding|RNA binding	g.chr2:238737984T>A	AK097730	CCDS46554.1	2q37.3	2013-02-12			ENSG00000177483	ENSG00000177483		"RNA binding motif (RRM) containing"	24756	protein-coding gene	gene with protein product							Standard	NM_001080504		Approved	FLJ40411	uc002vxi.4	Q6ZP01	OTTHUMG00000152937	ENST00000409864.1:c.2728T>A	2.37:g.238737984T>A	ENSP00000386727:p.Ser910Thr					RBM44_ENST00000409864.1_Missense_Mutation_p.S910T	p.S910T	NM_001080504.2	NP_001073973.2	Q6ZP01	RBM44_HUMAN		Epithelial(121;3.74e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.3e-11)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000118)|Lung(119;0.0112)|LUSC - Lung squamous cell carcinoma(224;0.0266)	13	2860	+		Breast(86;0.0042)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)	909					A0AUW3	Missense_Mutation	SNP	ENST00000409864.1	37	c.2728T>A	CCDS46554.1	.	.	.	.	.	.	.	.	.	.	T	10.85	1.466584	0.26335	.	.	ENSG00000177483	ENST00000316997;ENST00000409864	T;T	0.25749	1.78;1.78	4.58	0.719	0.18208	.	.	.	.	.	T	0.28665	0.0710	L	0.47716	1.5	0.09310	N	1	D	0.55172	0.97	P	0.54346	0.749	T	0.11591	-1.0581	9	0.36615	T	0.2	-2.1053	3.8554	0.08973	0.0:0.222:0.1902:0.5879	.	909	Q6ZP01	RBM44_HUMAN	T	910	ENSP00000321179:S910T;ENSP00000386727:S910T	ENSP00000321179:S910T	S	+	1	0	RBM44	238402723	0.000000	0.05858	0.007000	0.13788	0.878000	0.50629	-0.114000	0.10757	0.215000	0.20761	0.450000	0.29827	TCA		0.348	RBM44-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328733.2	NM_001080504		7	53	0	0	0	1	0	7	53					A	238737984	T	A	238737984	3	1	267	1	0	0	0	0	1	0	0	0	13138	1435	50	5	2774	5	RBM44	2	238737984	Missense_Mutation	SNP	T	TCGA-J4-A67N-01A-11D-A30E-08	19478566	238737984	4461389	8	12496											
TRANK1	9881	broad.mit.edu	37	chr3	36873598	36873598	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tccttgtccttcttgctaaaCaggaactcccagtagtgcaa	10	12	7	12	0	1	0	0	0	1	0	4	1	4	1	3	1	4	3	3	1	5	5			TCGA-J4-A67N-01A-11D-A30E-08	TCGA-J4-A67N-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f07d2982-6313-4e21-a0a1-cf713daff114	f73b4226-3788-4704-acae-67420da417dd	g.chr3:36873598C>A	ENST00000429976.2	-	21	7591	c.7344G>T	c.(7342-7344)ctG>ctT	p.L2448L	TRANK1_ENST00000428977.2_Silent_p.L1898L|TRANK1_ENST00000301807.6_Silent_p.L1898L	NM_014831.2	NP_055646.2	O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	2448							ATP binding (GO:0005524)|hydrolase activity (GO:0016787)			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						TCTTGCTAAACAGGAACTCCC	0.507																																						ENST00000301807.6																			0				NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						c.(5692-5694)ctG>ctT		tetratricopeptide repeat and ankyrin repeat containing 1							103	105	104					3																	36873598		1952	4153	6105	SO:0001819	synonymous_variant	9881				DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding	g.chr3:36873598C>A	AK096678	CCDS46789.1, CCDS46789.2	3p22.2	2013-01-11			ENSG00000168016	ENSG00000168016		"Ankyrin repeat domain containing", "Tetratricopeptide (TTC) repeat domain containing"	29011	protein-coding gene	gene with protein product	"lupus brain antigen 1", "KIAA0342"					9205841	Standard	NM_014831		Approved	LBA1, KIAA0342	uc003cgj.3	O15050	OTTHUMG00000155848	ENST00000429976.2:c.7344G>T	3.37:g.36873598C>A						TRANK1_ENST00000428977.2_Silent_p.L1898L|TRANK1_ENST00000429976.2_Silent_p.L2448L	p.L1898L	NM_014831.2	NP_055646.2	O15050	TRNK1_HUMAN			21	7591	-			2448					Q8N8K0	Silent	SNP	ENST00000429976.2	37	c.5694G>T	CCDS46789.2																																																																																				0.507	TRANK1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_014831		7	119	1	0	0.00198382	1	0.00214576	7	119					A	36873598	C	A	36873598	2	1	267	1	0	0	0	0	0	0	0	1	16451	465	17	5		5	TRANK1	3	36873598	Silent	SNP	C	TCGA-J4-A67N-01A-11D-A30E-08		36873598	161148832	9	12497											
FAM53A	152877	broad.mit.edu	37	chr4	1657001	1657001	+	Frame_Shift_Del	DEL	C	C	-																															cgcactgccctcgctgctgtCcacgaagccgccgctggcgg																								rs561741907	byFrequency	TCGA-J4-A67N-01A-11D-A30E-08	TCGA-J4-A67N-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f07d2982-6313-4e21-a0a1-cf713daff114	f73b4226-3788-4704-acae-67420da417dd	g.chr4:1657001delC	ENST00000308132.6	-	4	778	c.586delG	c.(586-588)gacfs	p.D196fs	FAM53A_ENST00000472884.2_Frame_Shift_Del_p.D196fs|FAM53A_ENST00000489363.1_Frame_Shift_Del_p.D196fs|FAM53A_ENST00000461064.1_Frame_Shift_Del_p.D196fs	NM_001174070.1	NP_001167541.1	Q6NSI3	FA53A_HUMAN	family with sequence similarity 53, member A	196						nucleus (GO:0005634)				breast(2)|central_nervous_system(2)|large_intestine(1)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10		all_epithelial(65;0.206)|Breast(71;0.212)	OV - Ovarian serous cystadenocarcinoma(23;0.0145)			TCGCTGCTGTCCACGAAGCCG	0.746																																						ENST00000308132.6																			0				breast(2)|central_nervous_system(2)|large_intestine(1)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10						c.(586-588)acfs		family with sequence similarity 53, member A							3	4	4					4																	1657001		1683	3598	5281	SO:0001589	frameshift_variant	152877					nucleus		g.chr4:1657001delC	BC070112	CCDS33939.1, CCDS75091.1	4p16.3	2005-08-09			ENSG00000174137	ENSG00000174137			31860	protein-coding gene	gene with protein product							Standard	NM_001013622		Approved	DNTNP	uc021xkl.1	Q6NSI3	OTTHUMG00000159855	ENST00000308132.6:c.586delG	4.37:g.1657001delC	ENSP00000310057:p.Asp196fs					FAM53A_ENST00000461064.1_Frame_Shift_Del_p.D196fs|FAM53A_ENST00000489363.1_Frame_Shift_Del_p.D196fs|FAM53A_ENST00000472884.2_Frame_Shift_Del_p.D196fs	p.D196fs	NM_001174070.1	NP_001167541.1	Q6NSI3	FA53A_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.0145)		4	778	-		all_epithelial(65;0.206)|Breast(71;0.212)	196					Q6ZUL5	Frame_Shift_Del	DEL	ENST00000308132.6	37	c.586delG	CCDS33939.1																																																																																				0.746	FAM53A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359224.1	NM_001013622		2	4						2	4	---	---	---	---	-	1657001	C	-	1657001	7	5	267	1	0	1	0	1	0	0	0	0	5579	855	30	0	618	0	FAM53A	4	1657001	Frame_Shift_Del	DEL	C	TCGA-J4-A67N-01A-11D-A30E-08		1657001	189497275	10	12498											
PPARGC1A	10891	broad.mit.edu	37	chr4	23886556	23886556	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caccaaccagagcagcacacTgcaggaggcagaaaaaaaaa	20	1	9	11	0	0	2	0	0	0	2	0	3	0	3	2	2	4	4	2	2	5	0			TCGA-J4-A67N-01A-11D-A30E-08	TCGA-J4-A67N-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f07d2982-6313-4e21-a0a1-cf713daff114	f73b4226-3788-4704-acae-67420da417dd	g.chr4:23886556T>C	ENST00000264867.2	-	2	174		c.e2-2		PPARGC1A_ENST00000509702.1_5'Flank|PPARGC1A_ENST00000507380.1_Splice_Site	NM_013261.3	NP_037393.1	Q9UBK2	PRGC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator 1 alpha						androgen metabolic process (GO:0008209)|androgen receptor signaling pathway (GO:0030521)|brown fat cell differentiation (GO:0050873)|cellular glucose homeostasis (GO:0001678)|cellular respiration (GO:0045333)|cellular response to fatty acid (GO:0071398)|cellular response to hypoxia (GO:0071456)|cellular response to nitrite (GO:0071250)|cellular response to oxidative stress (GO:0034599)|cellular response to thyroid hormone stimulus (GO:0097067)|cellular response to tumor necrosis factor (GO:0071356)|circadian regulation of gene expression (GO:0032922)|digestion (GO:0007586)|fatty acid oxidation (GO:0019395)|flavone metabolic process (GO:0051552)|galactose metabolic process (GO:0006012)|gluconeogenesis (GO:0006094)|mitochondrion organization (GO:0007005)|mRNA processing (GO:0006397)|negative regulation of glycolytic process (GO:0045820)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of neuron death (GO:1901215)|negative regulation of receptor activity (GO:2000272)|positive regulation of ATP biosynthetic process (GO:2001171)|positive regulation of cellular respiration (GO:1901857)|positive regulation of energy homeostasis (GO:2000507)|positive regulation of fatty acid oxidation (GO:0046321)|positive regulation of gluconeogenesis (GO:0045722)|positive regulation of histone acetylation (GO:0035066)|positive regulation of mitochondrial DNA metabolic process (GO:1901860)|positive regulation of mitochondrion organization (GO:0010822)|positive regulation of muscle tissue development (GO:1901863)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein stabilization (GO:0050821)|regulation of circadian rhythm (GO:0042752)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of transcription, DNA-templated (GO:0006355)|respiratory electron transport chain (GO:0022904)|response to cold (GO:0009409)|response to epinephrine (GO:0071871)|response to leucine (GO:0043201)|response to muscle activity (GO:0014850)|response to norepinephrine (GO:0071873)|response to starvation (GO:0042594)|response to statin (GO:0036273)|RNA splicing (GO:0008380)|temperature homeostasis (GO:0001659)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytosol (GO:0005829)|DNA-directed RNA polymerase II, core complex (GO:0005665)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin DNA binding (GO:0031490)|DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)|RNA polymerase II transcription cofactor activity (GO:0001104)|sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|liver(1)|lung(24)|ovary(3)|skin(5)	51		Breast(46;0.0503)				AGCAGCACACTGCAGGAGGCA	0.388																																					Esophageal Squamous(29;694 744 13796 34866 44181)	ENST00000264867.2																			0				central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|liver(1)|lung(24)|ovary(3)|skin(5)	51						c.e2-2		peroxisome proliferator-activated receptor gamma, coactivator 1 alpha							44	41	42					4																	23886556		2203	4300	6503	SO:0001630	splice_region_variant	10891				androgen receptor signaling pathway|brown fat cell differentiation|cellular glucose homeostasis|digestion|fatty acid oxidation|gluconeogenesis|mitochondrion organization|mRNA processing|neuron death|positive regulation of fatty acid oxidation|positive regulation of gluconeogenesis|positive regulation of histone acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|protein complex assembly|protein stabilization|response to muscle activity|response to starvation|RNA splicing|temperature homeostasis|transcription initiation from RNA polymerase II promoter	DNA-directed RNA polymerase II, core complex	androgen receptor binding|DNA binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|RNA binding|RNA polymerase II transcription cofactor activity|transcription factor binding	g.chr4:23886556T>C	AF106698	CCDS3429.1	4p15.1	2013-02-12	2006-10-17	2004-02-04	ENSG00000109819	ENSG00000109819		"RNA binding motif (RRM) containing"	9237	protein-coding gene	gene with protein product		604517	"peroxisome proliferative activated receptor, gamma, coactivator 1", "peroxisome proliferative activated receptor, gamma, coactivator 1, alpha"	PPARGC1		10585775	Standard	NM_013261		Approved	PGC1, PGC1A	uc003gqs.3	Q9UBK2	OTTHUMG00000097747	ENST00000264867.2:c.55-2A>G	4.37:g.23886556T>C						PPARGC1A_ENST00000507380.1_Splice_Site		NM_013261.3	NP_037393.1	Q9UBK2	PRGC1_HUMAN			2	174	-		Breast(46;0.0503)						B7Z406|G8DM16|I3RTT5|I3RTT6|I3RTT7|I3RTT8|I3RTT9|Q3LIG1|Q4W5M7|Q9UN32	Splice_Site	SNP	ENST00000264867.2	37		CCDS3429.1	.	.	.	.	.	.	.	.	.	.	T	18.04	3.535509	0.64972	.	.	ENSG00000109819	ENST00000264867;ENST00000507380	.	.	.	6.07	6.07	0.98685	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.6288	0.85011	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	PPARGC1A	23495654	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	7.336000	0.79245	2.326000	0.78906	0.533000	0.62120	.		0.388	PPARGC1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214976.1	NM_013261	Intron	12	32	0	0	0	1	0	12	32					C	23886556	T	C	23886556	5	2	267	1	0	0	0	0	0	0	1	0	12300	1594	55	4	2391	4	PPARGC1A	4	23886556	Splice_Site	SNP	T	TCGA-J4-A67N-01A-11D-A30E-08	22229555	23886556	167267720	11	12499											
UGDH	7358	broad.mit.edu	37	chr4	39522980	39522980	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aatatgtttacctcataaatAggaagtgtaggagaattcca	16	12	8	5	0	1	1	1	0	0	1	2	3	2	2	2	2	1	2	2	2	9	7			TCGA-J4-A67N-01A-11D-A30E-08	TCGA-J4-A67N-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f07d2982-6313-4e21-a0a1-cf713daff114	f73b4226-3788-4704-acae-67420da417dd	g.chr4:39522980A>G	ENST00000316423.6	-	2	495	c.153T>C	c.(151-153)ccT>ccC	p.P51P	UGDH_ENST00000507089.1_Intron|UGDH_ENST00000506179.1_Silent_p.P51P|UGDH_ENST00000501493.2_Silent_p.P51P|UGDH_ENST00000515398.1_Intron	NM_001184701.1|NM_003359.3	NP_001171630.1|NP_003350.1	O60701	UGDH_HUMAN	UDP-glucose 6-dehydrogenase	51					cellular glucuronidation (GO:0052695)|gastrulation with mouth forming second (GO:0001702)|glycosaminoglycan biosynthetic process (GO:0006024)|small molecule metabolic process (GO:0044281)|UDP-glucose metabolic process (GO:0006011)|UDP-glucuronate biosynthetic process (GO:0006065)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	electron carrier activity (GO:0009055)|NAD binding (GO:0051287)|UDP-glucose 6-dehydrogenase activity (GO:0003979)			breast(1)|central_nervous_system(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(10)|ovary(3)|skin(1)|urinary_tract(2)	27						CCTCATAAATAGGAAGTGTAG	0.303																																						ENST00000316423.6																			0				breast(1)|central_nervous_system(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(10)|ovary(3)|skin(1)|urinary_tract(2)	27						c.(151-153)ccT>ccC		UDP-glucose 6-dehydrogenase	NADH(DB00157)						121	112	115					4																	39522980		2203	4300	6503	SO:0001819	synonymous_variant	7358				glycosaminoglycan biosynthetic process|UDP-glucose metabolic process|UDP-glucuronate biosynthetic process|xenobiotic metabolic process	cytosol	electron carrier activity|NAD binding|UDP-glucose 6-dehydrogenase activity	g.chr4:39522980A>G	AF061016	CCDS3455.1, CCDS54757.1, CCDS54758.1	4p14	2011-11-16	2010-04-28		ENSG00000109814	ENSG00000109814	1.1.1.22		12525	protein-coding gene	gene with protein product		603370	"UDP-glucose dehydrogenase"			9737970, 10575217	Standard	NM_003359		Approved		uc003guk.2	O60701	OTTHUMG00000099371	ENST00000316423.6:c.153T>C	4.37:g.39522980A>G						UGDH_ENST00000506179.1_Silent_p.P51P|UGDH_ENST00000515398.1_Intron|UGDH_ENST00000507089.1_Intron|UGDH_ENST00000501493.2_Silent_p.P51P	p.P51P	NM_001184701.1|NM_003359.3	NP_001171630.1|NP_003350.1	O60701	UGDH_HUMAN			2	495	-			51					B3KUU2|B4DN25|O60589	Silent	SNP	ENST00000316423.6	37	c.153T>C	CCDS3455.1																																																																																				0.303	UGDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216818.3	NM_003359		13	84	0	0	0	1	0	13	84					G	39522980	A	G	39522980	2	3	267	1	0	0	0	0	0	0	0	1	16937	407	15	4		4	UGDH	4	39522980	Silent	SNP	A	TCGA-J4-A67N-01A-11D-A30E-08	15636424	39522980	151631296	12	12500											
LPHN3	23284	broad.mit.edu	37	chr4	62812714	62812714	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gccagtatgaagttgggaacGgaagctttgtccacaaatca	13	9	11	8	1	1	1	1	1	0	0	2	3	2	3	2	2	2	3	2	2	5	3	rs35637502	byFrequency	TCGA-J4-A67N-01A-11D-A30E-08	TCGA-J4-A67N-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f07d2982-6313-4e21-a0a1-cf713daff114	f73b4226-3788-4704-acae-67420da417dd	g.chr4:62812714G>A	ENST00000514591.1	+	15	2627	c.2298G>A	c.(2296-2298)acG>acA	p.T766T	LPHN3_ENST00000508946.1_Silent_p.T766T|LPHN3_ENST00000506720.1_Silent_p.T834T|LPHN3_ENST00000507625.1_Silent_p.T834T|LPHN3_ENST00000514157.1_Silent_p.T766T|LPHN3_ENST00000509896.1_Silent_p.T834T|LPHN3_ENST00000507164.1_Silent_p.T834T|LPHN3_ENST00000506746.1_Silent_p.T834T|LPHN3_ENST00000508693.1_Silent_p.T834T|LPHN3_ENST00000504896.1_Silent_p.T766T|LPHN3_ENST00000506700.1_Silent_p.T766T|LPHN3_ENST00000511324.1_Silent_p.T834T|LPHN3_ENST00000508078.1_3'UTR|LPHN3_ENST00000545650.1_Silent_p.T766T|LPHN3_ENST00000514996.1_Silent_p.T766T|LPHN3_ENST00000512091.2_Silent_p.T766T			Q9HAR2	LPHN3_HUMAN	latrophilin 3	753					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|G-protein coupled receptor activity (GO:0004930)			breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						AGTTGGGAACGGAAGCTTTGT	0.403													G|||	16	0.00319489	0.0113	0.0014	5008	,	,		16768	0		0	False		,,,				2504	0					ENST00000512091.1																			0				breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						c.(2296-2298)acG>acA		latrophilin 3		G		41,3731		0,41,1845	252	236	241		2298	-4.8	1	4	dbSNP_126	241	4,8236		0,4,4116	no	coding-synonymous	LPHN3	NM_015236.4		0,45,5961	AA,AG,GG		0.0485,1.087,0.3746		766/1470	62812714	45,11967	1886	4120	6006	SO:0001819	synonymous_variant	23284				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding	g.chr4:62812714G>A	AB018311	CCDS54768.1	4q13.1	2014-08-08				ENSG00000150471		"-", "GPCR / Class B : Orphans"	20974	protein-coding gene	gene with protein product						10994649	Standard	NM_015236		Approved	KIAA0768, LEC3	uc010ihh.3	Q9HAR2		ENST00000514591.1:c.2298G>A	4.37:g.62812714G>A						LPHN3_ENST00000507625.1_Silent_p.T834T|LPHN3_ENST00000514591.1_Silent_p.T766T|LPHN3_ENST00000514157.1_Silent_p.T766T|LPHN3_ENST00000506746.1_Silent_p.T834T|LPHN3_ENST00000545650.1_Silent_p.T766T|LPHN3_ENST00000508078.1_3'UTR|LPHN3_ENST00000504896.1_Silent_p.T766T|LPHN3_ENST00000511324.1_Silent_p.T834T|LPHN3_ENST00000507164.1_Silent_p.T834T|LPHN3_ENST00000514996.1_Silent_p.T766T|LPHN3_ENST00000509896.1_Silent_p.T834T|LPHN3_ENST00000506700.1_Silent_p.T766T|LPHN3_ENST00000508693.1_Silent_p.T834T|LPHN3_ENST00000508946.1_Silent_p.T766T|LPHN3_ENST00000506720.1_Silent_p.T834T	p.T766T			Q9HAR2	LPHN3_HUMAN			15	3045	+			753					E9PE04|O94867|Q9NWK5	Silent	SNP	ENST00000514591.1	37	c.2298G>A	CCDS54768.1	4	0.0018315018315018315	3	0.006097560975609756	1	0.0027624309392265192	0	0.0	0	0.0	G	8.415	0.845025	0.16963	0.01087	4.85E-4	ENSG00000150471	ENST00000502815	.	.	.	5.51	-4.83	0.03161	.	.	.	.	.	T	0.27489	0.0675	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.42565	-0.9444	4	.	.	.	.	0.4788	0.00544	0.3555:0.183:0.2523:0.2092	rs35637502	.	.	.	R	224	.	.	G	+	1	0	LPHN3	62495309	0.047000	0.20315	0.966000	0.40874	0.971000	0.66376	-0.197000	0.09518	-0.242000	0.09667	-0.455000	0.05494	GGA		0.403	LPHN3-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000361765.1			9	246	0	0	0	1	0	9	246					A	62812714	G	A	62812714	2	1	267	1	0	0	0	0	0	0	0	1	8917	1103	39	2		2	LPHN3	4	62812714	Silent	SNP	G	TCGA-J4-A67N-01A-11D-A30E-08	23289734	62812714	128341562	13	12501											
PAPD7	11044	broad.mit.edu	37	chr5	6748612	6748612	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggagctcctatggcgccatgCaggtgaagcaggtcttcgat	8	9	14	10	2	1	1	0	1	1	0	3	3	2	2	2	4	3	3	2	4	2	2			TCGA-J4-A67N-01A-11D-A30E-08	TCGA-J4-A67N-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f07d2982-6313-4e21-a0a1-cf713daff114	f73b4226-3788-4704-acae-67420da417dd	g.chr5:6748612C>T	ENST00000230859.6	+	8	874	c.745C>T	c.(745-747)Cag>Tag	p.Q249*		NM_001171805.1|NM_001171806.1|NM_006999.4	NP_001165276.1|NP_001165277.1|NP_008930.1	Q5XG87	PAPD7_HUMAN	PAP associated domain containing 7	479					double-strand break repair (GO:0006302)|mitotic chromosome condensation (GO:0007076)|response to drug (GO:0042493)|sister chromatid cohesion (GO:0007062)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|polynucleotide adenylyltransferase activity (GO:0004652)|SMC family protein binding (GO:0043221)			cervix(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(2)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						TGGCGCCATGCAGGTGAAGCA	0.542																																					NSCLC(7;212 333 5667 23379 46547)	ENST00000230859.6																			0				cervix(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(2)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						c.(745-747)Cag>Tag		PAP associated domain containing 7							317	289	298					5																	6748612		2203	4300	6503	SO:0001587	stop_gained	11044				cell division|DNA replication|double-strand break repair|mitotic chromosome condensation|response to drug|sister chromatid cohesion	nucleus	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|SMC protein binding	g.chr5:6748612C>T	AF089896	CCDS3871.1	5p15	2010-11-18	2010-01-19	2010-01-19	ENSG00000112941	ENSG00000112941			16705	protein-coding gene	gene with protein product	"topoisomerase-related function protein 4-1", "polymerase (DNA-directed) sigma", "DNA polymerase kappa", "TUTase5"	605198	"polymerase (DNA directed) sigma"	POLS		10066793, 10926539	Standard	NM_006999		Approved	POLK, TRF4, LAK-1, TRF4-1	uc003jdx.1	Q5XG87	OTTHUMG00000090457	ENST00000230859.6:c.745C>T	5.37:g.6748612C>T	ENSP00000230859:p.Gln249*						p.Q249*	NM_001171805.1|NM_001171806.1|NM_006999.4	NP_001165276.1|NP_001165277.1|NP_008930.1	Q5XG87	PAPD7_HUMAN			8	874	+			249					A8K1E2|M1JCE6|O43289|Q17RZ1|Q9Y6C1	Nonsense_Mutation	SNP	ENST00000230859.6	37	c.745C>T	CCDS3871.1	.	.	.	.	.	.	.	.	.	.	C	37	6.480735	0.97603	.	.	ENSG00000112941	ENST00000230859	.	.	.	5.43	4.56	0.56223	.	0.120483	0.64402	D	0.000020	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.18710	T	0.47	-10.7358	13.8039	0.63218	0.0:0.9267:0.0:0.0733	.	.	.	.	X	249	.	ENSP00000230859:Q249X	Q	+	1	0	PAPD7	6801612	1.000000	0.71417	1.000000	0.80357	0.766000	0.43426	5.483000	0.66838	1.286000	0.44565	0.561000	0.74099	CAG		0.542	PAPD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206904.1	NM_006999		5	323	0	0	0	1	0	5	323					T	6748612	C	T	6748612	4	4	267	1	0	0	0	0	0	1	0	0	11426	711	25	3	771	3	PAPD7	5	6748612	Nonsense_Mutation	SNP	C	TCGA-J4-A67N-01A-11D-A30E-08		6748612	174166648	14	12502											
TMEM171	134285	broad.mit.edu	37	chr5	72419573	72419573	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgttcttgacaagcggcatgCtcatcagcgtcctgggcatt	7	12	11	11	2	3	1	2	1	1	0	4	1	4	1	1	2	3	4	1	2	1	3			TCGA-J4-A67N-01A-11D-A30E-08	TCGA-J4-A67N-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f07d2982-6313-4e21-a0a1-cf713daff114	f73b4226-3788-4704-acae-67420da417dd	g.chr5:72419573C>G	ENST00000454765.2	+	2	846	c.373C>G	c.(373-375)Ctc>Gtc	p.L125V	TMEM171_ENST00000287773.5_Missense_Mutation_p.L125V			Q8WVE6	TM171_HUMAN	transmembrane protein 171	125						integral component of membrane (GO:0016021)				endometrium(5)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)|stomach(1)	15		Lung NSC(167;0.0378)|Ovarian(174;0.0908)|Prostate(461;0.165)		OV - Ovarian serous cystadenocarcinoma(47;1.87e-54)|Lung(70;0.115)		AAGCGGCATGCTCATCAGCGT	0.587																																					NSCLC(112;638 2280 27369 30736)	ENST00000454765.2																			0				endometrium(5)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)|stomach(1)	15						c.(373-375)Ctc>Gtc		transmembrane protein 171							126	128	127					5																	72419573		2203	4300	6503	SO:0001583	missense	134285					integral to membrane		g.chr5:72419573C>G	BC018083	CCDS4017.1, CCDS54869.1	5q13.2	2008-02-05			ENSG00000157111	ENSG00000157111			27031	protein-coding gene	gene with protein product						12477932	Standard	NM_173490		Approved	PRP2	uc003kcm.2	Q8WVE6	OTTHUMG00000131269	ENST00000454765.2:c.373C>G	5.37:g.72419573C>G	ENSP00000415030:p.Leu125Val					TMEM171_ENST00000287773.5_Missense_Mutation_p.L125V	p.L125V			Q8WVE6	TM171_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;1.87e-54)|Lung(70;0.115)	2	846	+		Lung NSC(167;0.0378)|Ovarian(174;0.0908)|Prostate(461;0.165)	125					Q8N0S1|Q8TDT7	Missense_Mutation	SNP	ENST00000454765.2	37	c.373C>G	CCDS4017.1	.	.	.	.	.	.	.	.	.	.	C	14.32	2.499064	0.44455	.	.	ENSG00000157111	ENST00000454765;ENST00000287773	T;T	0.36878	1.23;1.23	5.34	4.47	0.54385	.	0.000000	0.64402	D	0.000008	T	0.37265	0.0997	L	0.36672	1.1	0.37748	D	0.925874	P;P	0.42961	0.795;0.795	P;P	0.47528	0.549;0.549	T	0.41980	-0.9478	10	0.72032	D	0.01	-26.4583	12.2163	0.54408	0.0:0.8575:0.0:0.1425	.	125;125	Q8WVE6-2;Q8WVE6	.;TM171_HUMAN	V	125	ENSP00000415030:L125V;ENSP00000287773:L125V	ENSP00000287773:L125V	L	+	1	0	TMEM171	72455329	1.000000	0.71417	1.000000	0.80357	0.913000	0.54294	2.791000	0.47829	1.262000	0.44165	-0.463000	0.05309	CTC		0.587	TMEM171-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254037.2	NM_173490		6	122	0	0	0	1	0	6	122					G	72419573	C	G	72419573	3	3	267	1	0	0	0	0	1	0	0	0	16085	797	28	5	375	5	TMEM171	5	72419573	Missense_Mutation	SNP	C	TCGA-J4-A67N-01A-11D-A30E-08	65670961	72419573	108495687	15	12503											
GRIA1	2890	broad.mit.edu	37	chr5	153144159	153144159	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acagaaattgcctacgggacGctggaagcaggatctactaa	14	7	11	9	2	1	1	0	0	1	1	1	4	1	4	1	3	4	2	1	3	5	4	rs535451229		TCGA-J4-A67N-01A-11D-A30E-08	TCGA-J4-A67N-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f07d2982-6313-4e21-a0a1-cf713daff114	f73b4226-3788-4704-acae-67420da417dd	g.chr5:153144159G>A	ENST00000285900.5	+	12	2332	c.1989G>A	c.(1987-1989)acG>acA	p.T663T	GRIA1_ENST00000521843.2_Silent_p.T594T|GRIA1_ENST00000448073.4_Silent_p.T673T|GRIA1_ENST00000518783.1_Silent_p.T673T|GRIA1_ENST00000340592.5_Silent_p.T663T|GRIA1_ENST00000518142.1_Silent_p.T583T	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1	663					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|long-term memory (GO:0007616)|receptor internalization (GO:0031623)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|axonal spine (GO:0044308)|cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|dendrite membrane (GO:0032590)|dendritic spine (GO:0043197)|endocytic vesicle membrane (GO:0030666)|endoplasmic reticulum (GO:0005783)|neuron spine (GO:0044309)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|PDZ domain binding (GO:0030165)			NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Perampanel(DB08883)|Sevoflurane(DB01236)	CCTACGGGACGCTGGAAGCAG	0.502													G|||	1	0.000199681	0	0	5008	,	,		20910	0.001		0	False		,,,				2504	0					ENST00000285900.5																			0				NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81						c.(1987-1989)acG>acA		glutamate receptor, ionotropic, AMPA 1	Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)						99	83	88					5																	153144159		2203	4300	6503	SO:0001819	synonymous_variant	0				synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding	g.chr5:153144159G>A		CCDS4322.1, CCDS47318.1, CCDS58986.1, CCDS58987.1, CCDS58988.1, CCDS58989.1	5q33	2012-08-29			ENSG00000155511	ENSG00000155511		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4571	protein-coding gene	gene with protein product		138248		GLUR1		1652753, 1319477	Standard	NM_000827		Approved	GluA1, GLURA	uc011dcy.2	P42261	OTTHUMG00000130148	ENST00000285900.5:c.1989G>A	5.37:g.153144159G>A						GRIA1_ENST00000518783.1_Silent_p.T673T|GRIA1_ENST00000340592.5_Silent_p.T663T|GRIA1_ENST00000521843.2_Silent_p.T594T|GRIA1_ENST00000518142.1_Silent_p.T583T|GRIA1_ENST00000448073.4_Silent_p.T673T	p.T663T	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		12	2332	+		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	663					B7Z2S0|B7Z2W8|B7Z3F6|B7Z9G9|D3DQI4|E7ESV8|Q2NKM6	Silent	SNP	ENST00000285900.5	37	c.1989G>A	CCDS4322.1																																																																																				0.502	GRIA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252456.3			18	41	0	0	0	1	0	18	41					A	153144159	G	A	153144159	2	1	267	1	0	0	0	0	0	0	0	1	6767	1074	38	1		1	GRIA1	5	153144159	Silent	SNP	G	TCGA-J4-A67N-01A-11D-A30E-08	80724586	153144159	27771101	16	12504											
MSH5	4439	broad.mit.edu	37	chr6	31709057	31709058	+	Frame_Shift_Ins	INS	-	-	AG																															cgagagcctcaagcttctccINSagagaggtggggatggaacc																										TCGA-J4-A67N-01A-11D-A30E-08	TCGA-J4-A67N-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f07d2982-6313-4e21-a0a1-cf713daff114	f73b4226-3788-4704-acae-67420da417dd	g.chr6:31709057_31709058insAG	ENST00000375755.3	+	3	551_552	c.265_266insAG	c.(265-267)cagfs	p.Q89fs	MSH5-SAPCD1_ENST00000493662.2_Frame_Shift_Ins_p.Q89fs|MSH5_ENST00000534153.4_Frame_Shift_Ins_p.Q89fs|MSH5_ENST00000375740.3_Frame_Shift_Ins_p.Q89fs|MSH5_ENST00000375742.3_Frame_Shift_Ins_p.Q89fs|MSH5_ENST00000375750.3_Frame_Shift_Ins_p.Q89fs|MSH5_ENST00000482280.1_3'UTR|CLIC1_ENST00000395892.1_5'Flank|MSH5_ENST00000375703.3_Frame_Shift_Ins_p.Q89fs	NM_002441.4	NP_002432.1	O43196	MSH5_HUMAN	mutS homolog 5	89					ATP catabolic process (GO:0006200)|chiasma assembly (GO:0051026)|homologous chromosome segregation (GO:0045143)|mismatch repair (GO:0006298)|reciprocal meiotic recombination (GO:0007131)	synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|DNA-dependent ATPase activity (GO:0008094)|mismatched DNA binding (GO:0030983)			breast(1)|ovary(2)|skin(2)	5						CAAGCTTCTCCAGAGAGGTGGG	0.5								Direct reversal of damage;Mismatch excision repair (MMR)																														ENST00000493662.2																			0											c.(265-267)gagfs																																						SO:0001589	frameshift_variant	0							g.chr6:31709057_31709058insAG	AF070071	CCDS4720.1, CCDS34409.1, CCDS34410.1, CCDS34409.2	6p21.3	2013-09-12	2013-09-12		ENSG00000204410	ENSG00000204410			7328	protein-coding gene	gene with protein product		603382	"mutS (E. coli) homolog 5", "mutS homolog 5 (E. coli)"			9740671, 9787078, 17977839	Standard	NM_002441		Approved		uc011hbg.2	O43196	OTTHUMG00000167551	ENST00000375755.3:c.270_271dupAG	6.37:g.31709062_31709063dupAG	ENSP00000364908:p.Gln89fs					MSH5_ENST00000375703.3_Frame_Shift_Ins_p.E89fs|MSH5_ENST00000375740.3_Frame_Shift_Ins_p.E89fs|MSH5_ENST00000375742.3_Frame_Shift_Ins_p.E89fs|MSH5_ENST00000375750.3_Frame_Shift_Ins_p.E89fs|MSH5_ENST00000375755.3_Frame_Shift_Ins_p.E89fs|MSH5_ENST00000534153.4_Frame_Shift_Ins_p.E89fs|MSH5_ENST00000482280.1_3'UTR	p.E89fs							3	321_322	+								B0V033|B0V034|O60586|Q5BLU9|Q5SSR1|Q8IW44|Q9BQC7	Frame_Shift_Ins	INS	ENST00000375755.3	37	c.265_266insAG	CCDS4720.1																																																																																				0.5	MSH5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000076243.4			28	125						28	125	---	---	---	---	AG	31709058	-	AG	31709057	7	5	267	1	0	1	1	0	0	0	0	0	9873	595	21	0	271	0	MSH5	6	31709057	Frame_Shift_Ins	INS	-	TCGA-J4-A67N-01A-11D-A30E-08		31709057	139406010	17	12505											
AIM1	202	broad.mit.edu	37	chr6	106968542	106968542	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catttagaaaaggtgtttgaTcccaaagtgtttacctttgg	11	15	9	6	0	0	2	0	1	0	1	1	2	1	2	2	2	1	2	2	2	5	6			TCGA-J4-A67N-01A-11D-A30E-08	TCGA-J4-A67N-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f07d2982-6313-4e21-a0a1-cf713daff114	f73b4226-3788-4704-acae-67420da417dd	g.chr6:106968542T>G	ENST00000369066.3	+	2	2722	c.2235T>G	c.(2233-2235)gaT>gaG	p.D745E		NM_001624.2	NP_001615	Q9UMX9	S45A2_HUMAN	absent in melanoma 1	0					developmental pigmentation (GO:0048066)|melanin biosynthetic process (GO:0042438)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)				breast(8)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(7)|large_intestine(13)|lung(20)|ovary(5)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	69	Breast(9;0.0138)|all_epithelial(6;0.169)	all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473)	Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305)	all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858)		AGGTGTTTGATCCCAAAGTGT	0.443																																						ENST00000369066.3																			0				breast(8)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(7)|large_intestine(13)|lung(20)|ovary(5)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	69						c.(2233-2235)gaT>gaG		absent in melanoma 1							63	66	65					6																	106968542		2203	4300	6503	SO:0001583	missense	202						sugar binding	g.chr6:106968542T>G	U83115	CCDS34506.1	6q21	2014-01-29			ENSG00000112297	ENSG00000112297			356	protein-coding gene	gene with protein product	"suppression of tumorigenicity 4", "beta-gamma crystallin domain containing 1"	601797	"suppression of tumorigenicity 4 (malignant melanoma)"	ST4		1680551, 12693952	Standard	NM_001624		Approved	CRYBG1	uc003prh.3	Q9Y4K1	OTTHUMG00000015302	ENST00000369066.3:c.2235T>G	6.37:g.106968542T>G	ENSP00000358062:p.Asp745Glu						p.D745E	NM_001624.2	NP_001615.1	Q9Y4K1	AIM1_HUMAN	Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305)	all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858)	2	2722	+	Breast(9;0.0138)|all_epithelial(6;0.169)	all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473)	745					Q6P2P0|Q9BTM3	Missense_Mutation	SNP	ENST00000369066.3	37	c.2235T>G	CCDS34506.1	.	.	.	.	.	.	.	.	.	.	T	23.0	4.357333	0.82243	.	.	ENSG00000112297	ENST00000285105;ENST00000369066	D	0.85171	-1.95	6.16	-2.91	0.05631	.	0.281183	0.34200	N	0.004180	D	0.88104	0.6347	M	0.78637	2.42	0.80722	D	1	D	0.76494	0.999	D	0.78314	0.991	D	0.89189	0.3549	10	0.72032	D	0.01	.	14.1385	0.65303	0.0:0.5038:0.0:0.4962	.	745	Q9Y4K1	AIM1_HUMAN	E	1153;745	ENSP00000358062:D745E	ENSP00000285105:D1153E	D	+	3	2	AIM1	107075235	0.997000	0.39634	0.986000	0.45419	0.947000	0.59692	0.248000	0.18198	-0.248000	0.09583	0.528000	0.53228	GAT		0.443	AIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041669.1			4	104	0	0	0	1	0	4	104					G	106968542	T	G	106968542	3	3	267	1	0	0	0	0	1	0	0	0	430	1432	50	5	2241	5	AIM1	6	106968542	Missense_Mutation	SNP	T	TCGA-J4-A67N-01A-11D-A30E-08	75259485	106968542	64146525	18	12506											
AOAH	313	broad.mit.edu	37	chr7	36561718	36561718	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctctcttctgccactcctgtAtgactgcagggcacataacg	8	11	8	14	1	2	1	0	1	2	0	4	1	3	1	2	1	3	3	2	1	2	3			TCGA-J4-A67N-01A-11D-A30E-08	TCGA-J4-A67N-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f07d2982-6313-4e21-a0a1-cf713daff114	f73b4226-3788-4704-acae-67420da417dd	g.chr7:36561718A>G	ENST00000258749.5	-	20	1925	c.1526T>C	c.(1525-1527)aTa>aCa	p.I509T	AOAH_ENST00000538464.1_Missense_Mutation_p.I231T|AOAH_ENST00000431169.1_Missense_Mutation_p.I509T|AOAH_ENST00000535891.1_Missense_Mutation_p.I477T	NM_001637.3	NP_001628.1	P28039	AOAH_HUMAN	acyloxyacyl hydrolase (neutrophil)	509					inflammatory response (GO:0006954)|lipid metabolic process (GO:0006629)|lipopolysaccharide metabolic process (GO:0008653)|negative regulation of inflammatory response (GO:0050728)	extracellular region (GO:0005576)	acyloxyacyl hydrolase activity (GO:0050528)|catalytic activity (GO:0003824)|lipoprotein lipase activity (GO:0004465)			NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(21)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	41						CCACTCCTGTATGACTGCAGG	0.582																																						ENST00000431169.1																			0				NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(21)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	41						c.(1525-1527)aTa>aCa		acyloxyacyl hydrolase (neutrophil)							83	67	73					7																	36561718		2203	4300	6503	SO:0001583	missense	313				inflammatory response|lipid metabolic process	extracellular region	acyloxyacyl hydrolase activity|lipoprotein lipase activity	g.chr7:36561718A>G	BC025698	CCDS5448.1, CCDS55102.1, CCDS75584.1	7p14-p12	2014-03-14			ENSG00000136250	ENSG00000136250	3.1.1.77		548	protein-coding gene	gene with protein product		102593				1883828	Standard	NM_001637		Approved		uc022abu.1	P28039	OTTHUMG00000023566	ENST00000258749.5:c.1526T>C	7.37:g.36561718A>G	ENSP00000258749:p.Ile509Thr					AOAH_ENST00000538464.1_Missense_Mutation_p.I231T|AOAH_ENST00000535891.1_Missense_Mutation_p.I477T|AOAH_ENST00000258749.5_Missense_Mutation_p.I509T	p.I509T	NM_001177506.1	NP_001170977.1	P28039	AOAH_HUMAN			20	1826	-			509					A4D1Y5|B7Z490|Q53F13	Missense_Mutation	SNP	ENST00000258749.5	37	c.1526T>C	CCDS5448.1	.	.	.	.	.	.	.	.	.	.	A	12.90	2.076474	0.36662	.	.	ENSG00000136250	ENST00000538464;ENST00000535891;ENST00000258749;ENST00000431169;ENST00000544647	T;T;T;T	0.13778	2.56;2.56;2.56;2.56	4.92	-5.53	0.02552	Esterase, SGNH hydrolase-type (1);Esterase, SGNH hydrolase-type, subgroup (1);Lipase, GDSL (1);	1.826510	0.02655	N	0.106906	T	0.11024	0.0269	.	.	.	0.09310	N	1	B;B;B	0.22003	0.0;0.063;0.001	B;B;B	0.19666	0.002;0.026;0.005	T	0.21415	-1.0246	9	0.33940	T	0.23	.	12.815	0.57660	0.7364:0.0:0.2636:0.0	.	477;509;509	B7Z490;C9J8T1;P28039	.;.;AOAH_HUMAN	T	231;477;509;509;509	ENSP00000439283:I231T;ENSP00000441101:I477T;ENSP00000258749:I509T;ENSP00000405683:I509T	ENSP00000258749:I509T	I	-	2	0	AOAH	36528243	0.000000	0.05858	0.000000	0.03702	0.874000	0.50279	-1.782000	0.01772	-1.561000	0.01684	0.379000	0.24179	ATA		0.582	AOAH-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000219829.2	NM_001637		5	52	0	0	0	1	0	5	52					G	36561718	A	G	36561718	3	3	267	1	0	0	0	0	1	0	0	0	726	449	16	4	550	4	AOAH	7	36561718	Missense_Mutation	SNP	A	TCGA-J4-A67N-01A-11D-A30E-08		36561718	122576945	19	12507											
GNGT1	2792	broad.mit.edu	37	chr7	93536062	93536062	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cttcagcaggcaaaaagatgCcagtaatcaatattgaggac	16	8	9	8	0	2	2	2	1	0	1	2	3	2	3	1	2	2	3	1	2	5	4			TCGA-J4-A67N-01A-11D-A30E-08	TCGA-J4-A67N-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f07d2982-6313-4e21-a0a1-cf713daff114	f73b4226-3788-4704-acae-67420da417dd	g.chr7:93536062C>A	ENST00000248572.5	+	2	152	c.4C>A	c.(4-6)Cca>Aca	p.P2T	GNGT1_ENST00000429473.1_Missense_Mutation_p.P2T|GNGT1_ENST00000455502.1_Missense_Mutation_p.P2T|GNGT1_ENST00000430875.1_Missense_Mutation_p.P2T|GNGT1_ENST00000428834.1_Missense_Mutation_p.P2T	NM_021955.3	NP_068774.1	P63211	GBG1_HUMAN	guanine nucleotide binding protein (G protein), gamma transducing activity polypeptide 1	2					cardiac muscle cell apoptotic process (GO:0010659)|cellular response to hypoxia (GO:0071456)|eye photoreceptor cell development (GO:0042462)|GTP catabolic process (GO:0006184)|phototransduction, visible light (GO:0007603)|protein localization (GO:0008104)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	heterotrimeric G-protein complex (GO:0005834)|photoreceptor disc membrane (GO:0097381)|photoreceptor inner segment (GO:0001917)|plasma membrane (GO:0005886)	GTPase activity (GO:0003924)|signal transducer activity (GO:0004871)			endometrium(1)|large_intestine(1)|lung(3)|prostate(1)	6	all_cancers(62;2.39e-10)|all_epithelial(64;1.54e-09)|Lung NSC(181;0.218)		STAD - Stomach adenocarcinoma(171;0.000967)			CAAAAAGATGCCAGTAATCAA	0.403																																						ENST00000455502.1																			0				endometrium(1)|large_intestine(1)|lung(3)|prostate(1)	6						c.(4-6)Cca>Aca		guanine nucleotide binding protein (G protein), gamma transducing activity polypeptide 1							115	112	113					7																	93536062		2203	4300	6503	SO:0001583	missense	2792				G-protein coupled receptor protein signaling pathway|synaptic transmission	heterotrimeric G-protein complex	GTPase activity|signal transducer activity	g.chr7:93536062C>A		CCDS5633.1	7q21.3	2008-07-18			ENSG00000127928	ENSG00000127928			4411	protein-coding gene	gene with protein product		189970				8661128	Standard	NM_021955		Approved	GNG1	uc003unc.1	P63211	OTTHUMG00000022908	ENST00000248572.5:c.4C>A	7.37:g.93536062C>A	ENSP00000248572:p.Pro2Thr					GNGT1_ENST00000428834.1_Missense_Mutation_p.P2T|GNGT1_ENST00000429473.1_Missense_Mutation_p.P2T|GNGT1_ENST00000430875.1_Missense_Mutation_p.P2T|GNGT1_ENST00000248572.5_Missense_Mutation_p.P2T	p.P2T			P63211	GBG1_HUMAN	STAD - Stomach adenocarcinoma(171;0.000967)		3	258	+	all_cancers(62;2.39e-10)|all_epithelial(64;1.54e-09)|Lung NSC(181;0.218)		2					A4D1H2|O43835|Q08447|Q16026|Q6LCP6	Missense_Mutation	SNP	ENST00000248572.5	37	c.4C>A	CCDS5633.1	.	.	.	.	.	.	.	.	.	.	C	14.38	2.518307	0.44763	.	.	ENSG00000127928	ENST00000455502;ENST00000248572;ENST00000429473;ENST00000430875;ENST00000428834	T;T;T;T;T	0.28069	1.63;1.63;1.63;1.63;1.63	5.75	5.75	0.90469	G-protein gamma domain (2);	0.000000	0.85682	D	0.000000	T	0.41259	0.1151	.	.	.	0.54753	D	0.999989	D	0.58268	0.982	P	0.47118	0.538	T	0.29671	-1.0004	9	0.72032	D	0.01	-8.3311	19.0975	0.93258	0.0:1.0:0.0:0.0	.	2	P63211	GBG1_HUMAN	T	2	ENSP00000395857:P2T;ENSP00000248572:P2T;ENSP00000388777:P2T;ENSP00000395756:P2T;ENSP00000401781:P2T	ENSP00000248572:P2T	P	+	1	0	GNGT1	93373998	1.000000	0.71417	1.000000	0.80357	0.827000	0.46813	6.631000	0.74277	2.885000	0.99019	0.655000	0.94253	CCA		0.403	GNGT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254718.2	NM_021955		20	66	1	0	8.00594e-06	1	9.02797e-06	20	66					A	93536062	C	A	93536062	3	1	267	1	0	0	0	0	1	0	0	0	6533	739	26	5	6	5	GNGT1	7	93536062	Missense_Mutation	SNP	C	TCGA-J4-A67N-01A-11D-A30E-08	56974344	93536062	65602601	20	12508											
FOXP2	93986	broad.mit.edu	37	chr7	114270015	114270015	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	caacagcagcagcagcagcaAcagcagcagcagcagcaaca	17	0	10	14	0	0	0	0	0	0	0	0	0	0	0	0	0	13	10	0	0	3	0	rs146945410	byFrequency	TCGA-J4-A67N-01A-11D-A30E-08	TCGA-J4-A67N-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f07d2982-6313-4e21-a0a1-cf713daff114	f73b4226-3788-4704-acae-67420da417dd	g.chr7:114270015A>G	ENST00000393494.2	+	5	831	c.552A>G	c.(550-552)caA>caG	p.Q184Q	FOXP2_ENST00000393491.3_Silent_p.Q92Q|FOXP2_ENST00000393489.3_Silent_p.Q92Q|FOXP2_ENST00000378237.3_Silent_p.Q184Q|FOXP2_ENST00000390668.3_Silent_p.Q208Q|FOXP2_ENST00000403559.4_Silent_p.Q201Q|AC020606.1_ENST00000580664.1_RNA|FOXP2_ENST00000393498.2_Silent_p.Q164Q|FOXP2_ENST00000350908.4_Silent_p.Q184Q|FOXP2_ENST00000393500.3_Silent_p.Q109Q|FOXP2_ENST00000408937.3_Silent_p.Q209Q|FOXP2_ENST00000360232.4_Silent_p.Q184Q			O15409	FOXP2_HUMAN	forkhead box P2	184	Gln-rich.				camera-type eye development (GO:0043010)|caudate nucleus development (GO:0021757)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|growth (GO:0040007)|lung alveolus development (GO:0048286)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of epithelial cell proliferation involved in lung morphogenesis (GO:0060501)|positive regulation of mesenchymal cell proliferation (GO:0002053)|post-embryonic development (GO:0009791)|putamen development (GO:0021758)|righting reflex (GO:0060013)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|vocal learning (GO:0042297)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						agcagcagcaacagcagcagc	0.502													A|||	2	0.000399361	0	0	5008	,	,		15840	0.001		0.001	False		,,,				2504	0					ENST00000393500.3																			0				breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						c.(325-327)caA>caG		forkhead box P2		A	,,,,,	5,4383		0,5,2189	47	43	45		552,627,552,627,552,603	-2.6	0.9	7	dbSNP_134	45	13,8553		0,13,4270	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	FOXP2	NM_001172766.2,NM_001172767.2,NM_014491.3,NM_148898.3,NM_148899.3,NM_148900.3	,,,,,	0,18,6459	GG,GA,AA		0.1518,0.1139,0.139	,,,,,	184/715,209/458,184/716,209/741,184/433,201/733	114270015	18,12936	2194	4283	6477	SO:0001819	synonymous_variant	93986				camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding	g.chr7:114270015A>G	U80741	CCDS5760.1, CCDS5761.1, CCDS43635.1, CCDS5761.2, CCDS55154.1	7q31	2008-07-18			ENSG00000128573	ENSG00000128573		"Forkhead boxes"	13875	protein-coding gene	gene with protein product	"trinucleotide repeat containing 10", "forkhead/winged-helix transcription factor", "speech and language disorder 1", "CAG repeat protein 44"	605317		TNRC10, SPCH1		11586359, 9225980	Standard	NM_014491		Approved	CAGH44	uc003vgz.3	O15409	OTTHUMG00000023131	ENST00000393494.2:c.552A>G	7.37:g.114270015A>G						FOXP2_ENST00000378237.3_Silent_p.Q184Q|FOXP2_ENST00000350908.4_Silent_p.Q184Q|FOXP2_ENST00000390668.3_Silent_p.Q208Q|FOXP2_ENST00000393498.2_Silent_p.Q164Q|FOXP2_ENST00000360232.4_Silent_p.Q184Q|FOXP2_ENST00000408937.3_Silent_p.Q209Q|FOXP2_ENST00000403559.4_Silent_p.Q201Q|FOXP2_ENST00000393491.3_Silent_p.Q92Q|FOXP2_ENST00000393489.3_Silent_p.Q92Q|FOXP2_ENST00000393494.2_Silent_p.Q184Q	p.Q109Q			O15409	FOXP2_HUMAN			11	1147	+			184			Gln-rich.		A0AUV6|A4D0U8|A6NNW4|B4DLD9|Q6ZND1|Q75MJ3|Q8IZE0|Q8N0W2|Q8N6B7|Q8N6B8|Q8NFQ1|Q8NFQ2|Q8NFQ3|Q8NFQ4|Q8TD74	Silent	SNP	ENST00000393494.2	37	c.327A>G	CCDS5760.1																																																																																				0.502	FOXP2-014	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317366.1	NM_014491		4	76	0	0	0	1	0	4	76					G	114270015	A	G	114270015	2	3	267	1	0	0	0	0	0	0	0	1	6027	40	2	4		4	FOXP2	7	114270015	Silent	SNP	A	TCGA-J4-A67N-01A-11D-A30E-08	20733953	114270015	44868648	21	12509											
FAM75A6	389730	broad.mit.edu	37	chr9	43627263	43627263	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggatgaaataaagggttggCggtgggacaggggctgggcc	9	7	20	5	1	0	1	0	1	0	0	0	3	0	3	1	8	0	2	1	8	3	2	rs559415564	byFrequency	TCGA-J4-A67N-01A-11D-A30E-08	TCGA-J4-A67N-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f07d2982-6313-4e21-a0a1-cf713daff114	f73b4226-3788-4704-acae-67420da417dd	g.chr9:43627263C>T	ENST00000332857.6	-	4	1452	c.1424G>A	c.(1423-1425)cGc>cAc	p.R475H	SPATA31A6_ENST00000496386.1_5'Flank	NM_001145196.1	NP_001138668.1	Q5VVP1	S31A6_HUMAN	SPATA31 subfamily A, member 6	475					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											AAAGGGTTGGCGGTGGGACAG	0.527																																						ENST00000332857.6																			0											c.(1423-1425)cGc>cAc		SPATA31 subfamily A, member 6							103	117	113					9																	43627263		617	1533	2150	SO:0001583	missense	389730							g.chr9:43627263C>T		CCDS75837.1	9p11.2	2012-10-15	2012-10-12	2012-10-12	ENSG00000185775	ENSG00000185775			32006	protein-coding gene	gene with protein product			"family with sequence similarity 75, member A6"	FAM75A6		20850414	Standard	NM_001145196		Approved	OTTHUMG00000013224	uc011lrb.2	Q5VVP1	OTTHUMG00000013224	ENST00000332857.6:c.1424G>A	9.37:g.43627263C>T	ENSP00000329825:p.Arg475His						p.R475H	NM_001145196.1	NP_001138668.1					4	1452	-									Missense_Mutation	SNP	ENST00000332857.6	37	c.1424G>A	CCDS47973.1	.	.	.	.	.	.	.	.	.	.	C	0.370	-0.934478	0.02340	.	.	ENSG00000185775	ENST00000332857	T	0.06449	3.3	2.13	0.22	0.15279	.	1.217210	0.05894	N	0.628683	T	0.03053	0.0090	N	0.08118	0	0.09310	N	1	B	0.17465	0.022	B	0.11329	0.006	T	0.46414	-0.9193	10	0.15066	T	0.55	-0.2466	3.398	0.07313	0.1687:0.2738:0.5575:0.0	.	475	Q5VVP1	F75A6_HUMAN	H	475	ENSP00000329825:R475H	ENSP00000329825:R475H	R	-	2	0	FAM75A6	43567259	0.001000	0.12720	0.000000	0.03702	0.019000	0.09904	-1.478000	0.02329	0.056000	0.16144	-1.398000	0.01145	CGC		0.527	SPATA31A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036987.1	NM_001145196		215	332	0	0	0	1	0	215	332					T	43627263	C	T	43627263	3	4	267	1	0	0	0	0	1	0	0	0	5622	768	27	1	2611	1	FAM75A6	9	43627263	Missense_Mutation	SNP	C	TCGA-J4-A67N-01A-11D-A30E-08		43627263	97586168	22	12510											
ABLIM1	3983	broad.mit.edu	37	chr10	116207677	116207677	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggggaccaggccagtggtccGtctcaatctttggtgtctcg	5	11	14	11	2	3	0	1	0	3	0	6	1	4	1	3	5	0	0	3	5	1	1	rs549919699	byFrequency	TCGA-J4-A67N-01A-11D-A30E-08	TCGA-J4-A67N-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f07d2982-6313-4e21-a0a1-cf713daff114	f73b4226-3788-4704-acae-67420da417dd	g.chr10:116207677G>A	ENST00000277895.5	-	15	1794	c.1697C>T	c.(1696-1698)aCg>aTg	p.T566M	ABLIM1_ENST00000369266.3_Missense_Mutation_p.T243M|ABLIM1_ENST00000533213.2_Missense_Mutation_p.T506M|ABLIM1_ENST00000392952.3_Missense_Mutation_p.T243M|ABLIM1_ENST00000369252.4_Missense_Mutation_p.T506M|ABLIM1_ENST00000369253.2_Missense_Mutation_p.T189M	NM_002313.5	NP_002304.3	O14639	ABLM1_HUMAN	actin binding LIM protein 1	566					axon guidance (GO:0007411)|cilium assembly (GO:0042384)|cytoskeleton organization (GO:0007010)|lamellipodium assembly (GO:0030032)|organ morphogenesis (GO:0009887)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|visual perception (GO:0007601)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|lamellipodium (GO:0030027)|stress fiber (GO:0001725)	actin binding (GO:0003779)|zinc ion binding (GO:0008270)			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	30		Colorectal(252;0.0373)|Breast(234;0.231)		Epithelial(162;0.0132)|all cancers(201;0.0383)		CCAGTGGTCCGTCTCAATCTT	0.542													G|||	2	0.000399361	0.0015	0	5008	,	,		18602	0		0	False		,,,				2504	0					ENST00000369252.4																			0				breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	30						c.(1516-1518)aCg>aTg		actin binding LIM protein 1							131	109	116					10																	116207677		2203	4300	6503	SO:0001583	missense	3983				axon guidance|cytoskeleton organization|organ morphogenesis|visual perception	actin cytoskeleton|cytoplasm	actin binding|zinc ion binding	g.chr10:116207677G>A	AF005654	CCDS7590.1, CCDS31289.1	10q25	2008-07-07		2002-09-13	ENSG00000099204	ENSG00000099204			78	protein-coding gene	gene with protein product		602330		LIMAB1, ABLIM		9245787	Standard	NM_002313		Approved	abLIM, limatin	uc021pyw.1	O14639	OTTHUMG00000019088	ENST00000277895.5:c.1697C>T	10.37:g.116207677G>A	ENSP00000277895:p.Thr566Met					ABLIM1_ENST00000392952.3_Missense_Mutation_p.T243M|ABLIM1_ENST00000369253.2_Missense_Mutation_p.T189M|ABLIM1_ENST00000277895.5_Missense_Mutation_p.T566M|ABLIM1_ENST00000533213.2_Missense_Mutation_p.T506M|ABLIM1_ENST00000369266.3_Missense_Mutation_p.T243M	p.T506M	NM_001003407.1|NM_001003408.1	NP_001003407.1|NP_001003408.1	O14639	ABLM1_HUMAN		Epithelial(162;0.0132)|all cancers(201;0.0383)	15	1818	-		Colorectal(252;0.0373)|Breast(234;0.231)	566					A6NI16|A6NJ06|A8MXA9|B3KVH2|Q15039|Q5JVV1|Q5JVV2|Q5T6N2|Q5T6N3|Q5T6N5|Q68CQ9|Q9BUP1	Missense_Mutation	SNP	ENST00000277895.5	37	c.1517C>T	CCDS7590.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.45|12.45	1.942603|1.942603	0.34283|0.34283	.|.	.|.	ENSG00000099204|ENSG00000099204	ENST00000392955|ENST00000336585;ENST00000369252;ENST00000392952;ENST00000369257;ENST00000369267;ENST00000533213;ENST00000369262;ENST00000369263;ENST00000369266;ENST00000369256;ENST00000277895;ENST00000369253	.|T;T;T;T	.|0.30182	.|1.54;1.54;1.54;1.54	5.83|5.83	4.93|4.93	0.64822|0.64822	.|.	.|0.446133	.|0.24516	.|N	.|0.037856	T|T	0.42899|0.42899	0.1223|0.1223	L|L	0.41492|0.41492	1.28|1.28	0.43777|0.43777	D|D	0.996306|0.996306	.|B;D;P;B;P;P;B	.|0.71674	.|0.354;0.998;0.896;0.158;0.911;0.863;0.119	.|B;P;P;B;P;B;B	.|0.61722	.|0.124;0.893;0.635;0.066;0.614;0.205;0.018	T|T	0.17592|0.17592	-1.0364|-1.0364	5|10	.|0.35671	.|T	.|0.21	.|.	14.9035|14.9035	0.70699|0.70699	0.0685:0.0:0.9315:0.0|0.0685:0.0:0.9315:0.0	.|.	.|506;534;566;243;536;490;189	.|F8W8M4;A6NKJ2;O14639;O14639-5;B3KVH2;C9K0X4;O14639-4	.|.;.;ABLM1_HUMAN;.;.;.;.	W|M	440|566;506;243;189;534;506;634;490;243;490;634;318	.|ENSP00000358256:T506M;ENSP00000376679:T243M;ENSP00000433629:T506M;ENSP00000358270:T243M	.|ENSP00000277895:T634M	R|T	-|-	1|2	2|0	ABLIM1|ABLIM1	116197667|116197667	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.971000|0.971000	0.66376|0.66376	4.419000|4.419000	0.59835|0.59835	1.471000|1.471000	0.48121|0.48121	-0.136000|-0.136000	0.14681|0.14681	CGG|ACG		0.542	ABLIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050469.3			27	60	0	0	0	1	0	27	60					A	116207677	G	A	116207677	3	1	267	1	0	0	0	0	1	0	0	0	94	1145	40	1	671	1	ABLIM1	10	116207677	Missense_Mutation	SNP	G	TCGA-J4-A67N-01A-11D-A30E-08		116207677	19327070	23	12511											
CHST15	51363	broad.mit.edu	37	chr10	125780846	125780852	+	Frame_Shift_Del	DEL	GCTGCAG	GCTGCAG	-																															aagcatgcaattttcaaacaGctgcagtgcttctgtcactt																										TCGA-J4-A67N-01A-11D-A30E-08	TCGA-J4-A67N-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f07d2982-6313-4e21-a0a1-cf713daff114	f73b4226-3788-4704-acae-67420da417dd	g.chr10:125780846_125780852delGCTGCAG	ENST00000346248.5	-	6	1909_1915	c.1267_1273delCTGCAGC	c.(1267-1275)ctgcagctgfs	p.LQL423fs	CHST15_ENST00000435907.1_Frame_Shift_Del_p.LQL423fs|CHST15_ENST00000421115.1_Frame_Shift_Del_p.LQL423fs	NM_015892.4	NP_056976.2	Q7LFX5	CHSTF_HUMAN	carbohydrate (N-acetylgalactosamine 4-sulfate 6-O) sulfotransferase 15	423					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|hexose biosynthetic process (GO:0019319)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	3'-phosphoadenosine 5'-phosphosulfate binding (GO:0050656)|N-acetylgalactosamine 4-sulfate 6-O-sulfotransferase activity (GO:0050659)			endometrium(4)|kidney(1)|large_intestine(11)|lung(6)|ovary(3)|stomach(1)	26						TTTTCAAACAGCTGCAGTGCTTCTGTC	0.473																																						ENST00000346248.5																			0				endometrium(4)|kidney(1)|large_intestine(11)|lung(6)|ovary(3)|stomach(1)	26						c.(1267-1275)tgfs		carbohydrate (N-acetylgalactosamine 4-sulfate 6-O) sulfotransferase 15																																				SO:0001589	frameshift_variant	51363				hexose biosynthetic process	Golgi membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate binding|N-acetylgalactosamine 4-sulfate 6-O-sulfotransferase activity	g.chr10:125780846_125780852delGCTGCAG	AB011170	CCDS7638.1	10q26	2009-07-09			ENSG00000182022	ENSG00000182022	2.8.2.33	"Sulfotransferases, membrane-bound"	18137	protein-coding gene	gene with protein product	"B cell RAG associated protein", "N-acetylgalactosamine 4-sulfate 6-O-sulfotransferase"	608277				9628581, 9754571, 11572857	Standard	NM_014863		Approved	GALNAC4S-6ST, BRAG, KIAA0598	uc001lhm.4	Q7LFX5	OTTHUMG00000019208	ENST00000346248.5:c.1267_1273delCTGCAGC	10.37:g.125780846_125780852delGCTGCAG	ENSP00000333947:p.Leu423fs					CHST15_ENST00000421115.1_Frame_Shift_Del_p.LQL423fs|CHST15_ENST00000435907.1_Frame_Shift_Del_p.LQL423fs	p.LQL423fs	NM_001270764.1|NM_015892.3	NP_001257693.1|NP_056976.2	Q7LFX5	CHSTF_HUMAN			6	1909_1915	-			423					O60338|O60474|Q86VM4	Frame_Shift_Del	DEL	ENST00000346248.5	37	c.1267_1273delCTGCAGC	CCDS7638.1																																																																																				0.473	CHST15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050856.1	NM_015892		12	24						12	24	---	---	---	---	-	125780852	GCTGCAG	-	125780846	7	5	267	1	0	1	0	1	0	0	0	0	3403	962	34	0	424	0	CHST15	10	125780846	Frame_Shift_Del	DEL	GCTGCAG	TCGA-J4-A67N-01A-11D-A30E-08	9573169	125780846	9753901	24	12512											
OR5AK2	390181	broad.mit.edu	37	chr11	56756464	56756464	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cccagcatgagttttggtgtAtcctcttcattgtattcctt	6	18	7	10	0	2	1	1	1	1	0	4	1	4	1	3	1	1	4	3	1	2	8			TCGA-J4-A67N-01A-11D-A30E-08	TCGA-J4-A67N-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f07d2982-6313-4e21-a0a1-cf713daff114	f73b4226-3788-4704-acae-67420da417dd	g.chr11:56756464A>G	ENST00000326855.2	+	1	118	c.76A>G	c.(76-78)Atc>Gtc	p.I26V		NM_001005323.1	NP_001005323.1	Q8NH90	O5AK2_HUMAN	olfactory receptor, family 5, subfamily AK, member 2	26						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(3)|endometrium(1)|large_intestine(4)|lung(3)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	21						GTTTTGGTGTATCCTCTTCAT	0.398																																						ENST00000326855.2																			0				breast(3)|endometrium(1)|large_intestine(4)|lung(3)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	21						c.(76-78)Atc>Gtc		olfactory receptor, family 5, subfamily AK, member 2							154	144	147					11																	56756464		2201	4296	6497	SO:0001583	missense	390181				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56756464A>G	AB065496	CCDS31538.1	11q11	2012-08-09			ENSG00000181273	ENSG00000181273		"GPCR / Class A : Olfactory receptors"	15251	protein-coding gene	gene with protein product							Standard	NM_001005323		Approved		uc010rjp.2	Q8NH90	OTTHUMG00000167019	ENST00000326855.2:c.76A>G	11.37:g.56756464A>G	ENSP00000322784:p.Ile26Val						p.I26V	NM_001005323.1	NP_001005323.1	Q8NH90	O5AK2_HUMAN			1	118	+			26					B2RNZ9	Missense_Mutation	SNP	ENST00000326855.2	37	c.76A>G	CCDS31538.1	.	.	.	.	.	.	.	.	.	.	A	0	-2.835709	0.00069	.	.	ENSG00000181273	ENST00000326855	T	0.00438	7.42	3.66	-7.32	0.01436	.	1.388660	0.05333	N	0.528642	T	0.00144	0.0004	N	0.02985	-0.445	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.38222	-0.9671	10	0.09084	T	0.74	-6.414	5.5393	0.17030	0.158:0.1524:0.5966:0.093	.	26	Q8NH90	O5AK2_HUMAN	V	26	ENSP00000322784:I26V	ENSP00000322784:I26V	I	+	1	0	OR5AK2	56513040	0.000000	0.05858	0.001000	0.08648	0.069000	0.16628	-4.211000	0.00273	-2.295000	0.00662	0.163000	0.16589	ATC		0.398	OR5AK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392446.1	NM_001005323		4	135	0	0	0	1	0	4	135					G	56756464	A	G	56756464	3	3	267	1	0	0	0	0	1	0	0	0	11142	449	16	4	78	4	OR5AK2	11	56756464	Missense_Mutation	SNP	A	TCGA-J4-A67N-01A-11D-A30E-08		56756464	78250052	25	12513											
FAM111A	63901	broad.mit.edu	37	chr11	58920765	58920765	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aatttttctttggggcttccGgctcccctgtgtttgattca	4	18	9	10	1	2	1	1	1	1	0	4	1	4	1	3	3	0	3	3	3	1	6			TCGA-J4-A67N-01A-11D-A30E-08	TCGA-J4-A67N-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f07d2982-6313-4e21-a0a1-cf713daff114	f73b4226-3788-4704-acae-67420da417dd	g.chr11:58920765G>A	ENST00000528737.1	+	5	4442	c.1624G>A	c.(1624-1626)Ggc>Agc	p.G542S	FAM111A_ENST00000420244.1_Missense_Mutation_p.G542S|FAM111A_ENST00000533703.1_Missense_Mutation_p.G542S|FAM111A_ENST00000531147.1_Missense_Mutation_p.G542S|FAM111A_ENST00000361723.3_Missense_Mutation_p.G542S			Q96PZ2	F111A_HUMAN	family with sequence similarity 111, member A	542	Interaction with SV40 large T antigen.				defense response to virus (GO:0051607)|DNA replication (GO:0006260)|negative regulation of viral genome replication (GO:0045071)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	catalytic activity (GO:0003824)			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22		all_epithelial(135;0.139)				TGGGGCTTCCGGCTCCCCTGT	0.413																																						ENST00000528737.1																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22						c.(1624-1626)Ggc>Agc		family with sequence similarity 111, member A							104	109	107					11																	58920765		2201	4295	6496	SO:0001583	missense	63901				proteolysis		serine-type endopeptidase activity	g.chr11:58920765G>A	AK092953	CCDS7973.1	11q12.1	2014-03-13				ENSG00000166801			24725	protein-coding gene	gene with protein product		615292				11572484, 23996431, 23684011	Standard	NM_022074		Approved	FLJ22794, KIAA1895	uc001nnq.3	Q96PZ2		ENST00000528737.1:c.1624G>A	11.37:g.58920765G>A	ENSP00000434435:p.Gly542Ser					FAM111A_ENST00000531147.1_Missense_Mutation_p.G542S|FAM111A_ENST00000361723.3_Missense_Mutation_p.G542S|FAM111A_ENST00000533703.1_Missense_Mutation_p.G542S|FAM111A_ENST00000420244.1_Missense_Mutation_p.G542S	p.G542S			Q96PZ2	F111A_HUMAN			5	4442	+		all_epithelial(135;0.139)	542					A8K5Y8|Q5RKS9|Q5XKM2|Q68DK9|Q6IPR7|Q9H5Y1	Missense_Mutation	SNP	ENST00000528737.1	37	c.1624G>A	CCDS7973.1	.	.	.	.	.	.	.	.	.	.	G	23.4	4.407432	0.83230	.	.	ENSG00000166801	ENST00000528737;ENST00000420244;ENST00000361723;ENST00000533703;ENST00000531147	D;D;D;D;D	0.99121	-5.45;-5.45;-5.45;-5.45;-5.45	5.57	5.57	0.84162	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (1);	0.062017	0.64402	D	0.000007	D	0.99345	0.9770	M	0.87381	2.88	0.42735	D	0.993722	D	0.89917	1.0	D	0.97110	1.0	D	0.99293	1.0899	10	0.87932	D	0	-12.6521	16.8262	0.85931	0.0:0.0:1.0:0.0	.	542	Q96PZ2	F111A_HUMAN	S	542	ENSP00000434435:G542S;ENSP00000406683:G542S;ENSP00000355264:G542S;ENSP00000433154:G542S;ENSP00000431631:G542S	ENSP00000355264:G542S	G	+	1	0	FAM111A	58677341	1.000000	0.71417	0.998000	0.56505	0.494000	0.33585	4.629000	0.61290	2.791000	0.96007	0.655000	0.94253	GGC		0.413	FAM111A-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393975.1	NM_022074		4	148	0	0	0	1	0	4	148					A	58920765	G	A	58920765	3	1	267	1	0	0	0	0	1	0	0	0	5399	1116	39	2	1630	2	FAM111A	11	58920765	Missense_Mutation	SNP	G	TCGA-J4-A67N-01A-11D-A30E-08	2164301	58920765	76085751	26	12514											
FGF9	2254	broad.mit.edu	37	chr13	22246172	22246172	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtgaccacctgggtcagtccGaagcaggggggctccccagg	7	5	16	13	1	1	1	1	1	0	0	3	2	3	1	5	5	1	2	5	5	1	0			TCGA-J4-A67N-01A-11D-A30E-08	TCGA-J4-A67N-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f07d2982-6313-4e21-a0a1-cf713daff114	f73b4226-3788-4704-acae-67420da417dd	g.chr13:22246172G>A	ENST00000382353.5	+	1	651	c.121G>A	c.(121-123)Gaa>Aaa	p.E41K		NM_002010.2	NP_002001.1	P31371	FGF9_HUMAN	fibroblast growth factor 9	41					angiogenesis (GO:0001525)|cell-cell signaling (GO:0007267)|chondrocyte differentiation (GO:0002062)|embryonic digestive tract development (GO:0048566)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal system development (GO:0048706)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inner ear morphogenesis (GO:0042472)|insulin receptor signaling pathway (GO:0008286)|lung-associated mesenchyme development (GO:0060484)|male gonad development (GO:0008584)|male sex determination (GO:0030238)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of Wnt signaling pathway (GO:0030178)|neurotrophin TRK receptor signaling pathway (GO:0048011)|osteoblast differentiation (GO:0001649)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of gene expression (GO:0010628)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein import into nucleus (GO:0006606)|regulation of timing of cell differentiation (GO:0048505)|signal transduction (GO:0007165)|substantia nigra development (GO:0021762)	basement membrane (GO:0005604)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	growth factor activity (GO:0008083)|heparin binding (GO:0008201)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|skin(2)	9		all_cancers(29;1.23e-20)|all_epithelial(30;9.83e-19)|all_lung(29;9.64e-17)|Lung SC(185;0.0262)|Breast(139;0.106)		all cancers(112;3.92e-05)|Epithelial(112;0.000166)|OV - Ovarian serous cystadenocarcinoma(117;0.00314)|Lung(94;0.163)		GGGTCAGTCCGAAGCAGGGGG	0.572																																					Melanoma(195;1939 2127 12623 13963 52730)	ENST00000382353.5																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|skin(2)	9						c.(121-123)Gaa>Aaa		fibroblast growth factor 9							70	75	74					13																	22246172		2203	4300	6503	SO:0001583	missense	2254				cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|male gonad development|positive regulation of cell division	extracellular space	growth factor activity|heparin binding	g.chr13:22246172G>A	D14838	CCDS9298.1	13q11-q12	2014-01-30	2013-06-18		ENSG00000102678	ENSG00000102678		"Endogenous ligands"	3687	protein-coding gene	gene with protein product	"glia-activating factor"	600921	"fibroblast growth factor 9 (glia-activating factor)"			8321227	Standard	NM_002010		Approved		uc001uog.2	P31371	OTTHUMG00000017412	ENST00000382353.5:c.121G>A	13.37:g.22246172G>A	ENSP00000371790:p.Glu41Lys						p.E41K	NM_002010.2	NP_002001.1	P31371	FGF9_HUMAN		all cancers(112;3.92e-05)|Epithelial(112;0.000166)|OV - Ovarian serous cystadenocarcinoma(117;0.00314)|Lung(94;0.163)	1	651	+		all_cancers(29;1.23e-20)|all_epithelial(30;9.83e-19)|all_lung(29;9.64e-17)|Lung SC(185;0.0262)|Breast(139;0.106)	41					A8K427|Q3SY32	Missense_Mutation	SNP	ENST00000382353.5	37	c.121G>A	CCDS9298.1	.	.	.	.	.	.	.	.	.	.	G	15.98	2.991386	0.54041	.	.	ENSG00000102678	ENST00000382353	T	0.76186	-1.0	5.28	5.28	0.74379	.	0.000000	0.85682	D	0.000000	T	0.63331	0.2502	N	0.22421	0.69	0.46279	D	0.998964	D	0.58620	0.983	B	0.39706	0.307	T	0.68704	-0.5338	10	0.48119	T	0.1	.	18.9133	0.92494	0.0:0.0:1.0:0.0	.	41	P31371	FGF9_HUMAN	K	41	ENSP00000371790:E41K	ENSP00000371790:E41K	E	+	1	0	FGF9	21144172	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.976000	0.70484	2.483000	0.83821	0.561000	0.74099	GAA		0.572	FGF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046002.2			6	107	0	0	0	1	0	6	107					A	22246172	G	A	22246172	3	1	267	1	0	0	0	0	1	0	0	0	5859	1059	37	2	123	2	FGF9	13	22246172	Missense_Mutation	SNP	G	TCGA-J4-A67N-01A-11D-A30E-08		22246172	92923706	27	12515											
TEX9	374618	broad.mit.edu	37	chr15	56657675	56657675	+	Splice_Site	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gggcgaagtctgtgtctcacGgtcagttcaactccaggctc	7	10	12	12	2	4	0	3	0	2	0	7	1	5	0	1	3	1	2	1	3	2	1			TCGA-J4-A67N-01A-11D-A30E-08	TCGA-J4-A67N-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f07d2982-6313-4e21-a0a1-cf713daff114	f73b4226-3788-4704-acae-67420da417dd	g.chr15:56657675G>C	ENST00000352903.2	+	1	51	c.27G>C	c.(25-27)acG>acC	p.T9T	TEX9_ENST00000561221.2_Splice_Site_p.T9T|TEX9_ENST00000537232.1_5'UTR|TEX9_ENST00000558083.2_5'UTR	NM_198524.1	NP_940926.1	Q8N6V9	TEX9_HUMAN	testis expressed 9	9										cervix(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(1)	14				all cancers(107;0.0394)|GBM - Glioblastoma multiforme(80;0.056)		TGTGTCTCACGGTCAGTTCAA	0.587																																						ENST00000561221.2																			0				cervix(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(1)	14						c.e1+1		testis expressed 9							53	50	51					15																	56657675		2193	4292	6485	SO:0001630	splice_region_variant	374618							g.chr15:56657675G>C	BC028119	CCDS10157.1, CCDS66776.1	15q21.3	2007-03-13	2007-03-13		ENSG00000151575	ENSG00000151575			29585	protein-coding gene	gene with protein product			"testis expressed sequence 9"				Standard	XM_005254361		Approved		uc002adp.3	Q8N6V9	OTTHUMG00000132035	ENST00000352903.2:c.27+1G>C	15.37:g.56657675G>C						TEX9_ENST00000352903.2_Splice_Site_p.T9_splice|TEX9_ENST00000537232.1_5'UTR|TEX9_ENST00000558083.2_5'UTR	p.T9_splice			Q8N6V9	TEX9_HUMAN		all cancers(107;0.0394)|GBM - Glioblastoma multiforme(80;0.056)	1	32	+			9					B4DH73	Splice_Site	SNP	ENST00000352903.2	37	c.27_splice	CCDS10157.1																																																																																				0.587	TEX9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255048.2	NM_198524	Silent	11	43	0	0	0	1	0	11	43					C	56657675	G	C	56657675	5	2	267	1	0	0	0	0	0	0	1	0	15781	1130	39	5	29	5	TEX9	15	56657675	Splice_Site	SNP	G	TCGA-J4-A67N-01A-11D-A30E-08		56657675	45873717	28	12516											
SCNN1B	6338	broad.mit.edu	37	chr16	23391983	23391983	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tggcttccagcctgacacggCcccccgcagccccaacactg	7	5	9	20	2	0	1	0	1	0	0	1	1	1	1	7	2	3	2	7	2	1	1			TCGA-J4-A67N-01A-11D-A30E-08	TCGA-J4-A67N-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f07d2982-6313-4e21-a0a1-cf713daff114	f73b4226-3788-4704-acae-67420da417dd	g.chr16:23391983C>T	ENST00000343070.2	+	13	1960	c.1784C>T	c.(1783-1785)gCc>gTc	p.A595V	SCNN1B_ENST00000568923.1_Missense_Mutation_p.A568V|SCNN1B_ENST00000307331.5_Missense_Mutation_p.A640V|SCNN1B_ENST00000568085.1_Missense_Mutation_p.A559V	NM_000336.2	NP_000327.2	P51168	SCNNB_HUMAN	sodium channel, non-voltage-gated 1, beta subunit	595					excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|multicellular organismal water homeostasis (GO:0050891)|response to stimulus (GO:0050896)|sensory perception of taste (GO:0050909)|sodium ion homeostasis (GO:0055078)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|sodium channel complex (GO:0034706)	ligand-gated sodium channel activity (GO:0015280)|WW domain binding (GO:0050699)			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	32				GBM - Glioblastoma multiforme(48;0.0465)	Amiloride(DB00594)|Triamterene(DB00384)	CCTGACACGGCCCCCCGCAGC	0.711																																						ENST00000343070.2																			0				breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	32						c.(1783-1785)gCc>gTc		sodium channel, non-voltage-gated 1, beta subunit	Amiloride(DB00594)|Triamterene(DB00384)						26	31	29					16																	23391983		2194	4297	6491	SO:0001583	missense	0				excretion|sensory perception of taste	apical plasma membrane	ligand-gated sodium channel activity|WW domain binding	g.chr16:23391983C>T	X87159	CCDS10609.1	16p12.2-p12.1	2012-02-28	2012-02-28		ENSG00000168447	ENSG00000168447		"Ion channels / Sodium channel, nonvoltage-gated", "Sodium channels"	10600	protein-coding gene	gene with protein product	"Liddle syndrome"	600760	"sodium channel, nonvoltage-gated 1, beta", "sodium channel, non-voltage-gated 1, beta"				Standard	NM_000336		Approved	ENaCbeta	uc002dln.3	P51168	OTTHUMG00000131608	ENST00000343070.2:c.1784C>T	16.37:g.23391983C>T	ENSP00000345751:p.Ala595Val					SCNN1B_ENST00000568085.1_Missense_Mutation_p.A559V|SCNN1B_ENST00000307331.5_Missense_Mutation_p.A640V|SCNN1B_ENST00000568923.1_Missense_Mutation_p.A568V	p.A595V	NM_000336.2	NP_000327.2	P51168	SCNNB_HUMAN		GBM - Glioblastoma multiforme(48;0.0465)	13	1960	+			595					C5HTZ2|O60891|Q96KG2|Q9UJ32|Q9UMU5	Missense_Mutation	SNP	ENST00000343070.2	37	c.1784C>T	CCDS10609.1	.	.	.	.	.	.	.	.	.	.	C	3.189	-0.166204	0.06461	.	.	ENSG00000168447	ENST00000343070;ENST00000307331	T;T	0.80214	-1.35;-1.35	4.61	1.47	0.22746	.	1.414580	0.04442	N	0.371026	T	0.60894	0.2304	N	0.08118	0	0.09310	N	1	B	0.10296	0.003	B	0.04013	0.001	T	0.47005	-0.9150	10	0.12430	T	0.62	-15.8937	5.3525	0.16043	0.3563:0.5464:0.0:0.0973	.	595	P51168	SCNNB_HUMAN	V	595;640	ENSP00000345751:A595V;ENSP00000302874:A640V	ENSP00000302874:A640V	A	+	2	0	SCNN1B	23299484	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	0.122000	0.15687	0.034000	0.15491	-0.165000	0.13383	GCC		0.711	SCNN1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254495.2			26	59	0	0	0	1	0	26	59					T	23391983	C	T	23391983	3	4	267	1	0	0	0	0	1	0	0	0	13928	739	26	3	1830	3	SCNN1B	16	23391983	Missense_Mutation	SNP	C	TCGA-J4-A67N-01A-11D-A30E-08		23391983	66962770	29	12517											
CCDC144A	9720	broad.mit.edu	37	chr17	16593944	16593944	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagccccagcacgacgtccGcctggaagatcttggcgagc	8	5	12	16	4	1	1	0	0	1	1	2	4	2	2	5	2	3	1	5	2	1	1			TCGA-J4-A67N-01A-11D-A30E-08	TCGA-J4-A67N-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f07d2982-6313-4e21-a0a1-cf713daff114	f73b4226-3788-4704-acae-67420da417dd	g.chr17:16593944G>T	ENST00000360524.8	+	1	306	c.230G>T	c.(229-231)cGc>cTc	p.R77L	CCDC144A_ENST00000436374.1_3'UTR|CCDC144A_ENST00000340621.5_Missense_Mutation_p.R77L|RP11-219A15.1_ENST00000448331.3_Missense_Mutation_p.R77L|RNU6-405P_ENST00000516637.1_RNA|CCDC144A_ENST00000456009.1_Missense_Mutation_p.R77L|CCDC144A_ENST00000443444.2_Missense_Mutation_p.R77L|CCDC144A_ENST00000399273.1_Missense_Mutation_p.R77L	NM_014695.1	NP_055510.1	A2RUR9	C144A_HUMAN	coiled-coil domain containing 144A	77																	CACGACGTCCGCCTGGAAGAT	0.647																																						ENST00000443444.2																			0											c.(229-231)cGc>cTc		coiled-coil domain containing 144A							78	87	84					17																	16593944		2203	4296	6499	SO:0001583	missense	9720							g.chr17:16593944G>T	BC133019	CCDS45621.1	17p11.2	2008-10-23			ENSG00000170160	ENSG00000170160			29072	protein-coding gene	gene with protein product						9628581, 11997339	Standard	NM_014695		Approved	KIAA0565, FLJ43983	uc002gqk.1	A2RUR9	OTTHUMG00000059178	ENST00000360524.8:c.230G>T	17.37:g.16593944G>T	ENSP00000353717:p.Arg77Leu					CCDC144A_ENST00000436374.1_3'UTR|CCDC144A_ENST00000360524.8_Missense_Mutation_p.R77L|RP11-219A15.1_ENST00000448331.3_Missense_Mutation_p.R77L|CCDC144A_ENST00000399273.1_Missense_Mutation_p.R77L|CCDC144A_ENST00000456009.1_Missense_Mutation_p.R77L|CCDC144A_ENST00000340621.5_Missense_Mutation_p.R77L	p.R77L			A2RUR9	C144A_HUMAN			1	370	+			77					O60311|Q6ZU57	Missense_Mutation	SNP	ENST00000360524.8	37	c.230G>T	CCDS45621.1	.	.	.	.	.	.	.	.	.	.	.	2.965	-0.213791	0.06140	.	.	ENSG00000170160	ENST00000420937;ENST00000340621;ENST00000399273;ENST00000436374;ENST00000399264;ENST00000443444;ENST00000448331;ENST00000360524;ENST00000456009;ENST00000360495	T;T;T;T;T;T;T	0.19105	2.17;2.17;2.17;2.17;2.17;2.17;2.17	0.311	-0.622	0.11560	.	.	.	.	.	T	0.09113	0.0225	N	0.08118	0	0.09310	N	1	B	0.15473	0.013	B	0.08055	0.003	T	0.28004	-1.0057	8	0.66056	D	0.02	.	.	.	.	.	77	A2RUR9	C144A_HUMAN	L	77	ENSP00000344740:R77L;ENSP00000382215:R77L;ENSP00000439262:R77L;ENSP00000440655:R77L;ENSP00000353717:R77L;ENSP00000394201:R77L;ENSP00000353685:R77L	ENSP00000344740:R77L	R	+	2	0	CCDC144A	16534669	0.019000	0.18553	0.000000	0.03702	0.000000	0.00434	-0.728000	0.04925	-0.522000	0.06417	-0.523000	0.04350	CGC		0.647	CCDC144A-013	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000444093.1			7	167	1	0	0.248553	1	0.248553	7	167					T	16593944	G	T	16593944	3	4	267	1	0	0	0	0	1	0	0	0	2777	1087	38	5	232	5	CCDC144A	17	16593944	Missense_Mutation	SNP	G	TCGA-J4-A67N-01A-11D-A30E-08		16593944	64601266	30	12518											
NOS2	4843	broad.mit.edu	37	chr17	26099431	26099431	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agaggatggtgactctgactCgggacgccattgtcttgcgc	7	10	14	10	3	2	3	0	2	2	1	3	5	2	5	1	3	1	0	1	3	0	2			TCGA-J4-A67N-01A-11D-A30E-08	TCGA-J4-A67N-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f07d2982-6313-4e21-a0a1-cf713daff114	f73b4226-3788-4704-acae-67420da417dd	g.chr17:26099431C>T	ENST00000313735.6	-	14	1840	c.1607G>A	c.(1606-1608)cGa>cAa	p.R536Q		NM_000625.4	NP_000616.3	P35228	NOS2_HUMAN	nitric oxide synthase 2, inducible	536					arginine catabolic process (GO:0006527)|blood coagulation (GO:0007596)|cellular response to interferon-gamma (GO:0071346)|cellular response to lipopolysaccharide (GO:0071222)|circadian rhythm (GO:0007623)|defense response to bacterium (GO:0042742)|defense response to Gram-negative bacterium (GO:0050829)|inflammatory response (GO:0006954)|innate immune response in mucosa (GO:0002227)|interaction with host (GO:0051701)|negative regulation of blood pressure (GO:0045776)|negative regulation of gene expression (GO:0010629)|negative regulation of protein catabolic process (GO:0042177)|nitric oxide biosynthetic process (GO:0006809)|nitric oxide mediated signal transduction (GO:0007263)|peptidyl-cysteine S-nitrosylation (GO:0018119)|phagosome maturation (GO:0090382)|positive regulation of guanylate cyclase activity (GO:0031284)|positive regulation of killing of cells of other organism (GO:0051712)|positive regulation of leukocyte mediated cytotoxicity (GO:0001912)|positive regulation of vasodilation (GO:0045909)|regulation of cell proliferation (GO:0042127)|regulation of cellular respiration (GO:0043457)|regulation of insulin secretion (GO:0050796)|response to bacterium (GO:0009617)|response to hypoxia (GO:0001666)|superoxide metabolic process (GO:0006801)	cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular (GO:0005622)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|peroxisome (GO:0005777)	arginine binding (GO:0034618)|flavin adenine dinucleotide binding (GO:0050660)|FMN binding (GO:0010181)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|NADP binding (GO:0050661)|NADPH-hemoprotein reductase activity (GO:0003958)|nitric-oxide synthase activity (GO:0004517)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|tetrahydrobiopterin binding (GO:0034617)			autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(28)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	56					Dexamethasone(DB01234)|Doxorubicin(DB00997)|L-Arginine(DB00125)|L-Citrulline(DB00155)|Miconazole(DB01110)|Triflusal(DB08814)	GACTCTGACTCGGGACGCCAT	0.572																																						ENST00000313735.6																			0				autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(28)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	56						c.(1606-1608)cGa>cAa		nitric oxide synthase 2, inducible	Dexamethasone(DB01234)|Hydrocortisone(DB00741)|L-Arginine(DB00125)|L-Citrulline(DB00155)						83	70	74					17																	26099431		2203	4300	6503	SO:0001583	missense	4843				arginine catabolic process|defense response to Gram-negative bacterium|innate immune response in mucosa|nitric oxide biosynthetic process|peptidyl-cysteine S-nitrosylation|platelet activation|positive regulation of killing of cells of other organism|positive regulation of leukocyte mediated cytotoxicity|regulation of cellular respiration|regulation of insulin secretion|superoxide metabolic process	cytosol|nucleus	arginine binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|protein homodimerization activity|tetrahydrobiopterin binding	g.chr17:26099431C>T	U20141	CCDS11223.1	17q11.2	2014-06-12	2008-09-16	2008-09-16	ENSG00000007171	ENSG00000007171	1.14.13.39		7873	protein-coding gene	gene with protein product		163730	"nitric oxide synthase 2A (inducible, hepatocytes)"	NOS2A		7682706	Standard	NM_000625		Approved	iNOS, NOS, HEP-NOS	uc002gzu.3	P35228	OTTHUMG00000132445	ENST00000313735.6:c.1607G>A	17.37:g.26099431C>T	ENSP00000327251:p.Arg536Gln						p.R536Q	NM_000625.4	NP_000616.3	P35228	NOS2_HUMAN			14	1840	-			536					A1L3U5|B7ZLY2|O60757|O94994|Q16263|Q16692|Q4TTS5|Q9UD42	Missense_Mutation	SNP	ENST00000313735.6	37	c.1607G>A	CCDS11223.1	.	.	.	.	.	.	.	.	.	.	C	36	5.838450	0.97009	.	.	ENSG00000007171	ENST00000313735;ENST00000379105;ENST00000302153	T	0.60040	0.22	5.97	5.97	0.96955	.	0.000000	0.64402	D	0.000001	T	0.80529	0.4640	M	0.87617	2.895	0.58432	D	0.999997	D;D	0.89917	0.999;1.0	D;D	0.91635	0.974;0.999	T	0.80839	-0.1203	10	0.49607	T	0.09	.	19.4269	0.94746	0.0:1.0:0.0:0.0	.	536;536	F8WEM3;P35228	.;NOS2_HUMAN	Q	536;497;536	ENSP00000327251:R536Q	ENSP00000305638:R536Q	R	-	2	0	NOS2	23123558	1.000000	0.71417	0.990000	0.47175	0.889000	0.51656	7.818000	0.86416	2.836000	0.97738	0.655000	0.94253	CGA		0.572	NOS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255597.1	NM_000625		17	43	0	0	0	1	0	17	43					T	26099431	C	T	26099431	3	4	267	1	0	0	0	0	1	0	0	0	10543	884	31	2	1910	2	NOS2	17	26099431	Missense_Mutation	SNP	C	TCGA-J4-A67N-01A-11D-A30E-08	9505487	26099431	55095779	31	12519											
KRT15	3866	broad.mit.edu	37	chr17	39673194	39673194	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtcagcctcaacgccctggcGcagggccagctcattctcat	7	8	10	16	2	4	0	4	0	1	0	5	0	4	0	3	2	3	2	3	2	1	1	rs201818657		TCGA-J4-A67N-01A-11D-A30E-08	TCGA-J4-A67N-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f07d2982-6313-4e21-a0a1-cf713daff114	f73b4226-3788-4704-acae-67420da417dd	g.chr17:39673194G>A	ENST00000254043.3	-	3	4189	c.604C>T	c.(604-606)Cgc>Tgc	p.R202C	KRT15_ENST00000393981.3_Missense_Mutation_p.R37C|KRT15_ENST00000393974.3_Missense_Mutation_p.R37C|KRT15_ENST00000393976.2_Missense_Mutation_p.R202C	NM_002275.3	NP_002266	P19012	K1C15_HUMAN	keratin 15	202	Coil 1B.|Rod.				epidermis development (GO:0008544)	extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	scaffold protein binding (GO:0097110)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16		Breast(137;0.000286)				ACGCCCTGGCGCAGGGCCAGC	0.597																																						ENST00000254043.3																			0				NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16						c.(604-606)Cgc>Tgc		keratin 15		G	CYS/ARG	0,4406		0,0,2203	72	74	73		604	4.9	1	17		73	1,8599		0,1,4299	yes	missense	KRT15	NM_002275.3	180	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging	202/457	39673194	1,13005	2203	4300	6503	SO:0001583	missense	3866				epidermis development	intermediate filament	protein binding|structural constituent of cytoskeleton	g.chr17:39673194G>A		CCDS11398.1	17q21.2	2013-06-20			ENSG00000171346	ENSG00000171346		"-", "Intermediate filaments type I, keratins (acidic)"	6421	protein-coding gene	gene with protein product	"keratin-15, basic", "keratin-15, beta", "type I cytoskeletal 15", "cytokeratin 15"	148030				16831889	Standard	NM_002275		Approved	K15, CK15, K1CO	uc002hwy.3	P19012	OTTHUMG00000133435	ENST00000254043.3:c.604C>T	17.37:g.39673194G>A	ENSP00000254043:p.Arg202Cys					KRT15_ENST00000393981.3_Missense_Mutation_p.R37C|KRT15_ENST00000393974.3_Missense_Mutation_p.R37C|KRT15_ENST00000393976.2_Missense_Mutation_p.R202C	p.R202C	NM_002275.3	NP_002266.2	P19012	K1C15_HUMAN			3	4189	-		Breast(137;0.000286)	202			Coil 1B.|Rod.		B3KQY1|B3KRA2|E0CX14|Q53XV8|Q9BUG4	Missense_Mutation	SNP	ENST00000254043.3	37	c.604C>T	CCDS11398.1	.	.	.	.	.	.	.	.	.	.	G	16.90	3.250801	0.59212	0.0	1.16E-4	ENSG00000171346	ENST00000254043;ENST00000393974;ENST00000393976;ENST00000393981;ENST00000458290	D;D;D;D;D	0.91792	-2.91;-2.91;-2.91;-2.91;-2.91	4.86	4.86	0.63082	Filament (1);	0.000000	0.50627	D	0.000119	D	0.95526	0.8546	M	0.78916	2.43	0.80722	D	1	D;P;D	0.89917	1.0;0.928;0.989	D;P;P	0.87578	0.998;0.632;0.808	D	0.95614	0.8675	10	0.72032	D	0.01	.	13.1878	0.59691	0.0:0.0:0.8407:0.1593	.	37;202;202	A8MT21;B3KVF5;P19012	.;.;K1C15_HUMAN	C	202;37;202;37;37	ENSP00000254043:R202C;ENSP00000377544:R37C;ENSP00000377546:R202C;ENSP00000377550:R37C;ENSP00000409282:R37C	ENSP00000254043:R202C	R	-	1	0	KRT15	36926720	0.998000	0.40836	1.000000	0.80357	0.351000	0.29236	4.362000	0.59467	2.514000	0.84764	0.650000	0.86243	CGC		0.597	KRT15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257301.1	NM_002275		4	111	0	0	0	1	0	4	111					A	39673194	G	A	39673194	3	1	267	1	0	0	0	0	1	0	0	0	8452	1087	38	1	790	1	KRT15	17	39673194	Missense_Mutation	SNP	G	TCGA-J4-A67N-01A-11D-A30E-08	13573763	39673194	41522016	32	12520											
PALM	5064	broad.mit.edu	37	chr19	726159	726159	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcctggcggcagagaccacGtcccagcaggagcggctgca	8	4	15	14	3	0	1	0	0	0	1	2	3	2	2	3	4	3	4	3	4	0	0	rs377213814		TCGA-J4-A67N-01A-11D-A30E-08	TCGA-J4-A67N-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f07d2982-6313-4e21-a0a1-cf713daff114	f73b4226-3788-4704-acae-67420da417dd	g.chr19:726159G>A	ENST00000338448.5	+	2	73	c.27G>A	c.(25-27)acG>acA	p.T9T	PALM_ENST00000264560.7_Silent_p.T9T	NM_002579.2	NP_002570.2	O75781	PALM_HUMAN	paralemmin	9					cellular component movement (GO:0006928)|cellular response to electrical stimulus (GO:0071257)|cytoskeleton organization (GO:0007010)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of dopamine receptor signaling pathway (GO:0060160)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of filopodium assembly (GO:0051491)|protein targeting to plasma membrane (GO:0072661)|regulation of cell shape (GO:0008360)|synapse maturation (GO:0060074)	apicolateral plasma membrane (GO:0016327)|axon (GO:0030424)|basolateral plasma membrane (GO:0016323)|cytoplasmic membrane-bounded vesicle (GO:0016023)|dendrite membrane (GO:0032590)|dendritic spine membrane (GO:0032591)|filopodium membrane (GO:0031527)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				endometrium(2)|large_intestine(1)|lung(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	11		all_epithelial(18;2.19e-21)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)|Lung(535;0.201)		CAGAGACCACGTCCCAGCAGG	0.672																																						ENST00000264560.7																			0				endometrium(2)|large_intestine(1)|lung(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						c.(25-27)acG>acA		paralemmin		G	,	0,4406		0,0,2203	70	66	67		27,27	-7.3	0	19		67	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	PALM	NM_001040134.1,NM_002579.2	,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,	9/344,9/388	726159	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	5064				cellular component movement|negative regulation of adenylate cyclase activity|negative regulation of dopamine receptor signaling pathway|positive regulation of filopodium assembly|regulation of cell shape	cytoplasmic membrane-bounded vesicle|filopodium membrane|integral to plasma membrane		g.chr19:726159G>A	Y16270	CCDS32857.1, CCDS32858.1	19p13.3	2008-07-17				ENSG00000099864			8594	protein-coding gene	gene with protein product		608134				9615234, 9813098	Standard	XM_005259565		Approved	KIAA0270	uc002lpm.1	O75781		ENST00000338448.5:c.27G>A	19.37:g.726159G>A						PALM_ENST00000338448.5_Silent_p.T9T|PALM_ENST00000606643.1_3'UTR	p.T9T	NM_001040134.1	NP_001035224.1	O75781	PALM_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)|Lung(535;0.201)	2	221	+		all_epithelial(18;2.19e-21)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)	9					O43359|O95673|Q92559|Q9UPJ4|Q9UQS2|Q9UQS3	Silent	SNP	ENST00000338448.5	37	c.27G>A	CCDS32857.1																																																																																				0.672	PALM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457592.1	NM_002579		33	79	0	0	0	1	0	33	79					A	726159	G	A	726159	2	1	267	1	0	0	0	0	0	0	0	1	11408	1132	40	1		1	PALM	19	726159	Silent	SNP	G	TCGA-J4-A67N-01A-11D-A30E-08		726159	58402824	33	12521											
FCGBP	8857	broad.mit.edu	37	chr19	40357401	40357401	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acacccttgtttggagtcaaCgtcaccatcccatcctggaa	10	10	7	14	1	2	0	2	0	0	0	4	2	4	2	4	2	1	1	4	2	2	2			TCGA-J4-A67N-01A-11D-A30E-08	TCGA-J4-A67N-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f07d2982-6313-4e21-a0a1-cf713daff114	f73b4226-3788-4704-acae-67420da417dd	g.chr19:40357401C>A	ENST00000221347.6	-	34	15919	c.15912G>T	c.(15910-15912)acG>acT	p.T5304T		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	5304	VWFD 13. {ECO:0000255|PROSITE- ProRule:PRU00580}.					extracellular vesicular exosome (GO:0070062)				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			TTGGAGTCAACGTCACCATCC	0.542																																						ENST00000221347.6																			0				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165						c.(15910-15912)acG>acT		Fc fragment of IgG binding protein							134	127	129					19																	40357401		2203	4300	6503	SO:0001819	synonymous_variant	8857					extracellular region	protein binding	g.chr19:40357401C>A	D84239		19q13.2	2013-09-20			ENSG00000090920	ENSG00000275395			13572	protein-coding gene	gene with protein product	"IgG Fc binding protein", "Human Fc gamma BP"					9182547	Standard	NM_003890		Approved	FC(GAMMA)BP	uc002omp.4	Q9Y6R7	OTTHUMG00000182580	ENST00000221347.6:c.15912G>T	19.37:g.40357401C>A							p.T5304T	NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)		34	15919	-	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		5304			VWFD 13.		O95784	Silent	SNP	ENST00000221347.6	37	c.15912G>T	CCDS12546.1																																																																																				0.542	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462507.1	NM_003890		4	82	1	0	0.00909568	1	0.00964142	4	82					A	40357401	C	A	40357401	2	1	267	1	0	0	0	0	0	0	0	1	5778	523	19	5		5	FCGBP	19	40357401	Silent	SNP	C	TCGA-J4-A67N-01A-11D-A30E-08	39631242	40357401	18771582	34	12522											
CCT8L2	150160	broad.mit.edu	37	chr22	17073401	17073401	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccttgggttcagtgccagccGctggggcagctccagggctg	4	8	16	13	1	1	0	1	0	0	0	2	0	2	0	4	4	3	5	4	4	0	2	rs553618420		TCGA-J4-A67N-01A-11D-A30E-08	TCGA-J4-A67N-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f07d2982-6313-4e21-a0a1-cf713daff114	f73b4226-3788-4704-acae-67420da417dd	g.chr22:17073401G>A	ENST00000359963.3	-	1	299	c.40C>T	c.(40-42)Cgg>Tgg	p.R14W		NM_014406.4	NP_055221.1	Q96SF2	TCPQM_HUMAN	chaperonin containing TCP1, subunit 8 (theta)-like 2	14					anion transport (GO:0006820)|cellular protein metabolic process (GO:0044267)|potassium ion transmembrane transport (GO:0071805)|transport (GO:0006810)	cytoplasm (GO:0005737)	anion channel activity (GO:0005253)|ATP binding (GO:0005524)|calcium-activated potassium channel activity (GO:0015269)			breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1)	67	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				AGTGCCAGCCGCTGGGGCAGC	0.637													g|||	1	0.000199681	0	0	5008	,	,		16237	0.001		0	False		,,,				2504	0					ENST00000359963.3																			0				breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1)	67						c.(40-42)Cgg>Tgg		chaperonin containing TCP1, subunit 8 (theta)-like 2							32	38	36					22																	17073401		2203	4297	6500	SO:0001583	missense	150160				cellular protein metabolic process	cytoplasm	anion channel activity|ATP binding|calcium-activated potassium channel activity	g.chr22:17073401G>A	AP003553	CCDS13738.1	22q11.1	2011-09-01			ENSG00000198445	ENSG00000198445			15553	protein-coding gene	gene with protein product							Standard	NM_014406		Approved	CESK1	uc002zlp.1	Q96SF2	OTTHUMG00000141302	ENST00000359963.3:c.40C>T	22.37:g.17073401G>A	ENSP00000353048:p.Arg14Trp						p.R14W	NM_014406.4	NP_055221.1	Q96SF2	TCPQM_HUMAN			1	299	-	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)	14					A4QPH3|Q9UJS3	Missense_Mutation	SNP	ENST00000359963.3	37	c.40C>T	CCDS13738.1	.	.	.	.	.	.	.	.	.	.	g	8.460	0.855168	0.17106	.	.	ENSG00000198445	ENST00000359963	T	0.58506	0.33	2.0	-2.6	0.06190	.	0.248450	0.21118	U	0.079861	T	0.22322	0.0538	N	0.08118	0	0.09310	N	1	D	0.62365	0.991	B	0.31812	0.136	T	0.43925	-0.9361	10	0.72032	D	0.01	-4.57	5.2189	0.15358	0.0:0.2087:0.5615:0.2297	.	14	Q96SF2	TCPQM_HUMAN	W	14	ENSP00000353048:R14W	ENSP00000353048:R14W	R	-	1	2	CCT8L2	15453401	0.000000	0.05858	0.031000	0.17742	0.042000	0.13812	0.007000	0.13174	-0.193000	0.10415	-2.528000	0.00182	CGG		0.637	CCT8L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280580.1			25	37	0	0	0	1	0	25	37					A	17073401	G	A	17073401	3	1	267	1	0	0	0	0	1	0	0	0	2961	1086	38	1	1637	1	CCT8L2	22	17073401	Missense_Mutation	SNP	G	TCGA-J4-A67N-01A-11D-A30E-08		17073401	34231165	35	12523											
ARHGEF9	23229	broad.mit.edu	37	chrX	62863890	62863890	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agggacttttctcacagtcaTtgcagcctgcctcttctggt	6	14	9	12	0	4	0	2	0	3	0	5	1	4	1	2	2	3	1	2	2	0	4			TCGA-J4-A67N-01A-11D-A30E-08	TCGA-J4-A67N-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f07d2982-6313-4e21-a0a1-cf713daff114	f73b4226-3788-4704-acae-67420da417dd	g.chrX:62863890T>C	ENST00000253401.6	-	9	2139	c.1339A>G	c.(1339-1341)Atg>Gtg	p.M447V	ARHGEF9_ENST00000374878.1_Missense_Mutation_p.M445V|ARHGEF9_ENST00000433323.2_Missense_Mutation_p.M174V|ARHGEF9_ENST00000374870.4_Missense_Mutation_p.M345V|ARHGEF9_ENST00000374872.1_Missense_Mutation_p.M426V|ARHGEF9_ENST00000437457.2_Missense_Mutation_p.M394V|ARHGEF9_ENST00000495564.1_5'UTR	NM_015185.2	NP_056000.1	O43307	ARHG9_HUMAN	Cdc42 guanine nucleotide exchange factor (GEF) 9	447					apoptotic signaling pathway (GO:0097190)|ion transmembrane transport (GO:0034220)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(14)|ovary(5)|pancreas(1)|skin(1)	35						CTCACAGTCATTGCAGCCTGC	0.358																																						ENST00000253401.6																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(14)|ovary(5)|pancreas(1)|skin(1)	35						c.(1339-1341)Atg>Gtg		Cdc42 guanine nucleotide exchange factor (GEF) 9							144	122	129					X																	62863890		2203	4300	6503	SO:0001583	missense	23229				apoptosis|induction of apoptosis by extracellular signals|ion transmembrane transport|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol	Rho guanyl-nucleotide exchange factor activity	g.chrX:62863890T>C	AB007884	CCDS35315.1, CCDS55429.1, CCDS55430.1	Xq11.1	2013-01-10			ENSG00000131089	ENSG00000131089		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	14561	protein-coding gene	gene with protein product	"collybistin"	300429				10559246, 9455477	Standard	NM_015185		Approved	KIAA0424, PEM-2	uc011mot.2	O43307	OTTHUMG00000021700	ENST00000253401.6:c.1339A>G	X.37:g.62863890T>C	ENSP00000253401:p.Met447Val					ARHGEF9_ENST00000437457.2_Missense_Mutation_p.M394V|ARHGEF9_ENST00000374870.4_Missense_Mutation_p.M345V|ARHGEF9_ENST00000374878.1_Missense_Mutation_p.M445V|ARHGEF9_ENST00000374872.1_Missense_Mutation_p.M426V|ARHGEF9_ENST00000433323.2_Missense_Mutation_p.M174V|ARHGEF9_ENST00000495564.1_5'UTR	p.M447V	NM_015185.2	NP_056000.1	O43307	ARHG9_HUMAN			9	2139	-			447					A8K1S8|B4DHC7|F8W7P8|Q5JSL6	Missense_Mutation	SNP	ENST00000253401.6	37	c.1339A>G	CCDS35315.1	.	.	.	.	.	.	.	.	.	.	T	11.28	1.591629	0.28357	.	.	ENSG00000131089	ENST00000253401;ENST00000374878;ENST00000437457;ENST00000374870;ENST00000433323;ENST00000374872	D;D;D;D;D;D	0.87103	-2.21;-2.21;-2.21;-2.21;-2.21;-2.21	5.56	4.37	0.52481	.	0.093109	0.64402	D	0.000001	T	0.77505	0.4140	N	0.22421	0.69	0.42558	D	0.993134	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.01281	0.0;0.0;0.0;0.0	T	0.68500	-0.5392	10	0.32370	T	0.25	.	10.0998	0.42497	0.1523:0.0:0.0:0.8477	.	394;445;447;447	B4DHC7;B1AMR4;O43307;A8K1S8	.;.;ARHG9_HUMAN;.	V	447;445;394;345;174;426	ENSP00000253401:M447V;ENSP00000364012:M445V;ENSP00000399994:M394V;ENSP00000364004:M345V;ENSP00000404478:M174V;ENSP00000364006:M426V	ENSP00000253401:M447V	M	-	1	0	ARHGEF9	62780615	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	3.714000	0.54889	0.734000	0.32515	-0.422000	0.05995	ATG		0.358	ARHGEF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056937.1			4	22	0	0	0	1	0	4	22					C	62863890	T	C	62863890	3	2	267	1	0	0	0	0	1	0	0	0	912	1493	52	4	219	4	ARHGEF9	23	62863890	Missense_Mutation	SNP	T	TCGA-J4-A67N-01A-11D-A30E-08		62863890	92406670	36	12524											
PCDH11X	27328	broad.mit.edu	37	chrX	91133813	91133813	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tctgaatgggctaccccaaaCccagaaaacaggcagatgat	15	6	9	11	0	1	4	0	2	1	2	1	4	1	4	3	2	3	2	3	2	5	1			TCGA-J4-A67N-01A-11D-A30E-08	TCGA-J4-A67N-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f07d2982-6313-4e21-a0a1-cf713daff114	f73b4226-3788-4704-acae-67420da417dd	g.chrX:91133813C>T	ENST00000373094.1	+	2	3419	c.2574C>T	c.(2572-2574)aaC>aaT	p.N858N	PCDH11X_ENST00000406881.1_Silent_p.N858N|PCDH11X_ENST00000373088.1_Silent_p.N858N|PCDH11X_ENST00000373097.1_Silent_p.N858N|PCDH11X_ENST00000361724.1_Silent_p.N858N|PCDH11X_ENST00000298274.8_Silent_p.N858N|PCDH11X_ENST00000395337.2_Silent_p.N858N|PCDH11X_ENST00000504220.2_Silent_p.N858N|PCDH11X_ENST00000361655.2_Silent_p.N858N	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	858					homophilic cell adhesion (GO:0007156)|negative regulation of phosphatase activity (GO:0010923)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						CTACCCCAAACCCAGAAAACA	0.393																																					NSCLC(38;925 1092 2571 38200 45895)	ENST00000373094.1																			0				NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						c.(2572-2574)aaC>aaT		protocadherin 11 X-linked							58	55	56					X																	91133813		2203	4300	6503	SO:0001819	synonymous_variant	27328				homophilic cell adhesion	integral to plasma membrane	calcium ion binding	g.chrX:91133813C>T	AB026187	CCDS14461.1, CCDS14462.1, CCDS55458.1, CCDS55459.1, CCDS55460.1, CCDS55461.1	Xq21.3	2014-06-13	2002-05-22	2002-05-24	ENSG00000102290	ENSG00000102290		"Cadherins / Protocadherins : Non-clustered"	8656	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 119"	300246	"protocadherin 11"	PCDH11		10644456	Standard	NM_001168360		Approved	PCDH-X, PCDHX, PPP1R119	uc004efm.2	Q9BZA7	OTTHUMG00000021965	ENST00000373094.1:c.2574C>T	X.37:g.91133813C>T						PCDH11X_ENST00000395337.2_Silent_p.N858N|PCDH11X_ENST00000361724.1_Silent_p.N858N|PCDH11X_ENST00000406881.1_Silent_p.N858N|PCDH11X_ENST00000298274.8_Silent_p.N858N|PCDH11X_ENST00000373097.1_Silent_p.N858N|PCDH11X_ENST00000373088.1_Silent_p.N858N|PCDH11X_ENST00000361655.2_Silent_p.N858N|PCDH11X_ENST00000504220.1_Silent_p.N858N	p.N858N	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN			2	3419	+			858					A6NIQ4|Q2TJH0|Q2TJH1|Q2TJH3|Q5JVZ0|Q70LR8|Q70LS7|Q70LS8|Q70LS9|Q70LT7|Q70LT8|Q70LT9|Q70LU0|Q70LU1|Q96RV4|Q96RW0|Q9BZA6|Q9H4E0|Q9P2M0|Q9P2X5	Silent	SNP	ENST00000373094.1	37	c.2574C>T	CCDS14461.1																																																																																				0.393	PCDH11X-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057436.1	NM_032969		31	13	0	0	0	1	0	31	13					T	91133813	C	T	91133813	2	4	267	1	0	0	0	0	0	0	0	1	11508	506	18	3		3	PCDH11X	23	91133813	Silent	SNP	C	TCGA-J4-A67N-01A-11D-A30E-08	28269923	91133813	64136747	37	12525											
FHL1	2273	broad.mit.edu	37	chrX	135290740	135290740	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggaggaccagtattactgcGtggattgctacaagaacttt	11	12	11	7	1	0	1	0	0	0	1	0	4	0	4	1	3	5	2	1	3	5	5			TCGA-J4-A67N-01A-11D-A30E-08	TCGA-J4-A67N-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f07d2982-6313-4e21-a0a1-cf713daff114	f73b4226-3788-4704-acae-67420da417dd	g.chrX:135290740G>A	ENST00000345434.3	+	5	709	c.628G>A	c.(628-630)Gtg>Atg	p.V210M	FHL1_ENST00000394155.2_Missense_Mutation_p.V210M|FHL1_ENST00000543669.1_Missense_Mutation_p.V210M|FHL1_ENST00000370683.1_Missense_Mutation_p.V226M|FHL1_ENST00000370690.3_Missense_Mutation_p.V210M|FHL1_ENST00000535737.1_Missense_Mutation_p.V210M|FHL1_ENST00000370676.3_Intron|FHL1_ENST00000539015.1_Missense_Mutation_p.V239M|FHL1_ENST00000394153.2_Missense_Mutation_p.V210M			Q13642	FHL1_HUMAN	four and a half LIM domains 1	210	LIM zinc-binding 3. {ECO:0000255|PROSITE- ProRule:PRU00125}.				cell differentiation (GO:0030154)|muscle organ development (GO:0007517)|negative regulation of cell growth (GO:0030308)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of G2/M transition of mitotic cell cycle (GO:0010972)|organ morphogenesis (GO:0009887)|positive regulation of potassium ion transport (GO:0043268)|regulation of membrane depolarization (GO:0003254)|regulation of potassium ion transmembrane transporter activity (GO:1901016)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ion channel binding (GO:0044325)|zinc ion binding (GO:0008270)			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	19	Acute lymphoblastic leukemia(192;0.000127)					GTATTACTGCGTGGATTGCTA	0.527																																						ENST00000543669.1																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	19						c.(628-630)Gtg>Atg		four and a half LIM domains 1							239	205	217					X																	135290740		2203	4300	6503	SO:0001583	missense	2273				cell differentiation|cell growth|muscle organ development|organ morphogenesis	cytosol|nucleus|plasma membrane	protein binding|zinc ion binding	g.chrX:135290740G>A	U60115	CCDS14655.1, CCDS55505.1, CCDS55506.1, CCDS55507.1, CCDS76036.1	Xq26.3	2014-09-17			ENSG00000022267	ENSG00000022267			3702	protein-coding gene	gene with protein product	"Four-and-a-half LIM domains 1", "LIM protein SLIMMER"	300163				8753811, 9714789	Standard	NM_001449		Approved	SLIM1, KYO-T, bA535K18.1, FHL1B, XMPMA, FLH1A, MGC111107	uc004ezo.3	Q13642	OTTHUMG00000022504	ENST00000345434.3:c.628G>A	X.37:g.135290740G>A	ENSP00000071281:p.Val210Met					FHL1_ENST00000370676.3_Intron|FHL1_ENST00000370683.1_Missense_Mutation_p.V226M|FHL1_ENST00000394153.2_Missense_Mutation_p.V210M|FHL1_ENST00000394155.2_Missense_Mutation_p.V210M|FHL1_ENST00000370690.3_Missense_Mutation_p.V210M|FHL1_ENST00000345434.3_Missense_Mutation_p.V210M|FHL1_ENST00000535737.1_Missense_Mutation_p.V210M|FHL1_ENST00000539015.1_Missense_Mutation_p.V239M	p.V210M	NM_001159704.1	NP_001153176.1	Q13642	FHL1_HUMAN			5	1339	+	Acute lymphoblastic leukemia(192;0.000127)		210			LIM zinc-binding 3.		B7Z5T4|B7Z793|O95212|Q13230|Q13645|Q5JXI7|Q5M7Y6|Q6IB30|Q9NZ40|Q9UKZ8|Q9Y630	Missense_Mutation	SNP	ENST00000345434.3	37	c.628G>A	CCDS55507.1	.	.	.	.	.	.	.	.	.	.	g	19.14	3.770456	0.69992	.	.	ENSG00000022267	ENST00000394155;ENST00000370690;ENST00000536581;ENST00000535737;ENST00000543669;ENST00000394153;ENST00000456218;ENST00000345434;ENST00000539015;ENST00000370683;ENST00000542704;ENST00000370674	D;D;D;D;D;D;D;D;D	0.87334	-2.24;-2.24;-2.24;-2.24;-2.24;-2.24;-2.24;-2.24;-2.24	4.55	4.55	0.56014	Zinc finger, LIM-type (4);	0.000000	0.85682	D	0.000000	D	0.93452	0.7911	M	0.80746	2.51	0.80722	D	1	D;D;D	0.89917	0.991;1.0;1.0	P;D;D	0.97110	0.782;0.998;1.0	D	0.94171	0.7423	10	0.56958	D	0.05	.	16.7068	0.85374	0.0:0.0:1.0:0.0	.	239;226;210	B7Z793;B7Z5T4;Q13642	.;.;FHL1_HUMAN	M	210;210;190;210;210;210;250;210;239;226;205;210	ENSP00000377710:V210M;ENSP00000359724:V210M;ENSP00000444815:V210M;ENSP00000443333:V210M;ENSP00000377709:V210M;ENSP00000071281:V210M;ENSP00000437673:V239M;ENSP00000359717:V226M;ENSP00000359708:V210M	ENSP00000071281:V210M	V	+	1	0	FHL1	135118406	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.939000	0.87685	1.857000	0.53885	0.431000	0.28591	GTG		0.527	FHL1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058461.1	NM_001449		115	42	0	0	0	1	0	115	42					A	135290740	G	A	135290740	3	1	267	1	0	0	0	0	1	0	0	0	5878	1145	40	1	759	1	FHL1	23	135290740	Missense_Mutation	SNP	G	TCGA-J4-A67N-01A-11D-A30E-08	44156927	135290740	19979820	38	12526											
LRRC8C	84230	broad.mit.edu	37	chr1	90178510	90178510	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cactggtatgccaagtatttCccttaccttgtcctcatcca	8	14	5	14	0	1	0	1	0	0	0	4	0	4	0	5	1	2	2	5	1	4	5			TCGA-J4-A67O-01A-11D-A30E-08	TCGA-J4-A67O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86a0580e-36fc-4afd-ae47-966d6b1dc108	f8e39928-9a59-4e5a-ba1e-f22910129528	g.chr1:90178510C>T	ENST00000370454.4	+	3	636	c.381C>T	c.(379-381)ttC>ttT	p.F127F	RP11-302M6.4_ENST00000370453.5_Intron|LRRC8C_ENST00000479252.1_Intron	NM_032270.4	NP_115646	Q8TDW0	LRC8C_HUMAN	leucine rich repeat containing 8 family, member C	127					fat cell differentiation (GO:0045444)|ion transport (GO:0006811)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|large_intestine(5)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	28		all_lung(203;0.126)		all cancers(265;0.00756)|Epithelial(280;0.0313)		CCAAGTATTTCCCTTACCTTG	0.433																																						ENST00000370454.4																			0				breast(1)|central_nervous_system(1)|large_intestine(5)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	28						c.(379-381)ttC>ttT		leucine rich repeat containing 8 family, member C							143	138	140					1																	90178510		2203	4300	6503	SO:0001819	synonymous_variant	84230					endoplasmic reticulum membrane|integral to membrane		g.chr1:90178510C>T		CCDS725.1	1p22.2	2011-02-10			ENSG00000171488	ENSG00000171488			25075	protein-coding gene	gene with protein product	"hypothetical protein AD158"	612889				11230166	Standard	NM_032270		Approved	AD158	uc001dnl.4	Q8TDW0	OTTHUMG00000010305	ENST00000370454.4:c.381C>T	1.37:g.90178510C>T						RP11-302M6.4_ENST00000370453.5_Intron|LRRC8C_ENST00000479252.1_Intron	p.F127F	NM_032270.4	NP_115646.2	Q8TDW0	LRC8C_HUMAN		all cancers(265;0.00756)|Epithelial(280;0.0313)	3	636	+		all_lung(203;0.126)	127					B3KXS9|Q29RV6|Q9H075	Silent	SNP	ENST00000370454.4	37	c.381C>T	CCDS725.1																																																																																				0.433	LRRC8C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028435.2	NM_032270		14	150	0	0	0	1	0	14	150					T	90178510	C	T	90178510	2	4	268	1	0	0	0	0	0	0	0	1	9023	854	30	3		3	LRRC8C	1	90178510	Silent	SNP	C	TCGA-J4-A67O-01A-11D-A30E-08		90178510	159072111	1	12527											
ZNF644	84146	broad.mit.edu	37	chr1	91406702	91406702	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cttcaggcagagtcaacgtaTtatttttctgaaatgatgtt	11	16	8	6	1	3	3	2	2	1	1	3	3	3	3	0	1	1	3	0	1	4	6			TCGA-J4-A67O-01A-11D-A30E-08	TCGA-J4-A67O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86a0580e-36fc-4afd-ae47-966d6b1dc108	f8e39928-9a59-4e5a-ba1e-f22910129528	g.chr1:91406702T>A	ENST00000370440.1	-	3	426	c.209A>T	c.(208-210)aAt>aTt	p.N70I	ZNF644_ENST00000361321.5_Intron|ZNF644_ENST00000337393.5_Missense_Mutation_p.N70I|ZNF644_ENST00000467231.1_Intron|ZNF644_ENST00000347275.5_Intron			Q9H582	ZN644_HUMAN	zinc finger protein 644	70					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(4)|endometrium(2)|large_intestine(10)|lung(21)|ovary(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	47		all_lung(203;0.00206)|Lung NSC(277;0.0519)|Lung SC(238;0.101)		all cancers(265;0.00102)|Epithelial(280;0.00766)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)|OV - Ovarian serous cystadenocarcinoma(397;0.173)		AGTCAACGTATTATTTTTCTG	0.393																																						ENST00000370440.1																			0				breast(4)|endometrium(2)|large_intestine(10)|lung(21)|ovary(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						c.(208-210)aAt>aTt		zinc finger protein 644							157	151	153					1																	91406702		2203	4300	6503	SO:0001583	missense	84146				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:91406702T>A	AB033047	CCDS731.1, CCDS732.1	1p22.2	2008-02-05			ENSG00000122482	ENSG00000122482			29222	protein-coding gene	gene with protein product		614159				10574462	Standard	NM_032186		Approved	KIAA1221, BM-005, MGC60165, MGC70410	uc001dnw.3	Q9H582	OTTHUMG00000010078	ENST00000370440.1:c.209A>T	1.37:g.91406702T>A	ENSP00000359469:p.Asn70Ile					ZNF644_ENST00000347275.5_Intron|ZNF644_ENST00000361321.5_Intron|ZNF644_ENST00000337393.5_Missense_Mutation_p.N70I|ZNF644_ENST00000467231.1_Intron	p.N70I			Q9H582	ZN644_HUMAN		all cancers(265;0.00102)|Epithelial(280;0.00766)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)|OV - Ovarian serous cystadenocarcinoma(397;0.173)	3	426	-		all_lung(203;0.00206)|Lung NSC(277;0.0519)|Lung SC(238;0.101)	70					A2RU71|Q2TAM0|Q5TCC0|Q6BEP7|Q6P446|Q6PI06|Q7LG67|Q9ULJ9	Missense_Mutation	SNP	ENST00000370440.1	37	c.209A>T	CCDS731.1	.	.	.	.	.	.	.	.	.	.	T	9.476	1.096858	0.20552	.	.	ENSG00000122482	ENST00000370440;ENST00000337393;ENST00000541557	T;T	0.00608	6.25;6.25	5.91	-0.221	0.13126	.	0.402683	0.26411	N	0.024539	T	0.00210	0.0006	N	0.24115	0.695	0.38624	D	0.951213	B	0.34103	0.437	B	0.32289	0.143	T	0.66440	-0.5923	10	0.87932	D	0	-2.3517	10.1787	0.42955	0.0:0.437:0.0:0.563	.	70	Q9H582	ZN644_HUMAN	I	70	ENSP00000359469:N70I;ENSP00000337008:N70I	ENSP00000337008:N70I	N	-	2	0	ZNF644	91179290	0.484000	0.25964	0.034000	0.17996	0.787000	0.44495	0.033000	0.13754	-0.272000	0.09259	-0.256000	0.11100	AAT		0.393	ZNF644-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027846.2	NM_032186		14	94	0	0	0	1	0	14	94					A	91406702	T	A	91406702	3	1	268	1	0	0	0	0	1	0	0	0	18057	1493	52	5	3790	5	ZNF644	1	91406702	Missense_Mutation	SNP	T	TCGA-J4-A67O-01A-11D-A30E-08	1228192	91406702	157843919	2	12528											
ZAP70	7535	broad.mit.edu	37	chr2	98349377	98349377	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaaggagcagggcacatacGccctgtccctcatctatggg	9	7	13	12	1	2	0	1	0	1	0	3	2	3	2	2	4	2	2	2	4	3	2			TCGA-J4-A67O-01A-11D-A30E-08	TCGA-J4-A67O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86a0580e-36fc-4afd-ae47-966d6b1dc108	f8e39928-9a59-4e5a-ba1e-f22910129528	g.chr2:98349377G>A	ENST00000264972.5	+	5	810	c.595G>A	c.(595-597)Gcc>Acc	p.A199T	ZAP70_ENST00000442208.1_Missense_Mutation_p.A73T|ZAP70_ENST00000451498.2_5'Flank|ZAP70_ENST00000463643.1_3'UTR	NM_001079.3	NP_001070.2	P43403	ZAP70_HUMAN	zeta-chain (TCR) associated protein kinase 70kDa	199	SH2 2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				adaptive immune response (GO:0002250)|B cell activation (GO:0042113)|beta selection (GO:0043366)|immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|negative thymic T cell selection (GO:0045060)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of alpha-beta T cell proliferation (GO:0046641)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of T cell differentiation (GO:0045582)|positive thymic T cell selection (GO:0045059)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|T cell activation (GO:0042110)|T cell aggregation (GO:0070489)|T cell differentiation (GO:0030217)|T cell migration (GO:0072678)|T cell receptor signaling pathway (GO:0050852)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|immunological synapse (GO:0001772)|plasma membrane (GO:0005886)|T cell receptor complex (GO:0042101)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	29						GGGCACATACGCCCTGTCCCT	0.627																																						ENST00000264972.5																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	29						c.(595-597)Gcc>Acc		zeta-chain (TCR) associated protein kinase 70kDa							94	71	79					2																	98349377		2203	4300	6503	SO:0001583	missense	7535				immune response|intracellular protein kinase cascade|positive thymic T cell selection|T cell receptor signaling pathway	cytosol|T cell receptor complex	ATP binding|non-membrane spanning protein tyrosine kinase activity	g.chr2:98349377G>A	L05148	CCDS33254.1, CCDS33255.1	2q11-q13	2014-09-17	2002-08-29		ENSG00000115085	ENSG00000115085		"SH2 domain containing"	12858	protein-coding gene	gene with protein product		176947	"zeta-chain (TCR) associated protein kinase (70 kD)"	SRK		1423621	Standard	NM_001079		Approved	ZAP-70, STD	uc002syd.1	P43403	OTTHUMG00000153060	ENST00000264972.5:c.595G>A	2.37:g.98349377G>A	ENSP00000264972:p.Ala199Thr					ZAP70_ENST00000442208.1_Missense_Mutation_p.A73T|ZAP70_ENST00000463643.1_3'UTR	p.A199T	NM_001079.3	NP_001070.2	P43403	ZAP70_HUMAN			5	810	+			199			SH2 2.		A6NFP4|Q6PIA4|Q8IXD6|Q9UBS6	Missense_Mutation	SNP	ENST00000264972.5	37	c.595G>A	CCDS33254.1	.	.	.	.	.	.	.	.	.	.	G	34	5.396875	0.96009	.	.	ENSG00000115085	ENST00000264972;ENST00000442208	D;D	0.87029	-2.2;-2.2	5.61	5.61	0.85477	SH2 motif (5);	0.000000	0.49916	D	0.000130	D	0.88555	0.6468	N	0.21282	0.65	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.63877	0.919;0.918	D	0.89754	0.3942	10	0.72032	D	0.01	.	17.5077	0.87750	0.0:0.0:1.0:0.0	.	73;199	P43403-3;P43403	.;ZAP70_HUMAN	T	199;73	ENSP00000264972:A199T;ENSP00000411141:A73T	ENSP00000264972:A199T	A	+	1	0	ZAP70	97715809	1.000000	0.71417	0.465000	0.27155	0.924000	0.55760	7.649000	0.83500	2.808000	0.96608	0.655000	0.94253	GCC		0.627	ZAP70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329278.1			5	59	0	0	0	1	0	5	59					A	98349377	G	A	98349377	3	1	268	1	0	0	0	0	1	0	0	0	17511	1087	38	1	605	1	ZAP70	2	98349377	Missense_Mutation	SNP	G	TCGA-J4-A67O-01A-11D-A30E-08		98349377	144849996	3	12529											
TMF1	7110	broad.mit.edu	37	chr3	69097585	69097585	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gaagaaattttcagattcatCgaccacagtcctccgaactg	13	10	7	11	2	2	2	2	0	0	2	5	5	4	2	3	0	1	0	3	0	3	3			TCGA-J4-A67O-01A-11D-A30E-08	TCGA-J4-A67O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86a0580e-36fc-4afd-ae47-966d6b1dc108	f8e39928-9a59-4e5a-ba1e-f22910129528	g.chr3:69097585C>T	ENST00000398559.2	-	2	487	c.271G>A	c.(271-273)Gat>Aat	p.D91N	CTD-2013N24.2_ENST00000596523.1_RNA|CTD-2013N24.2_ENST00000595925.1_RNA|CTD-2013N24.2_ENST00000596274.1_RNA|CTD-2013N24.2_ENST00000482368.2_RNA|CTD-2013N24.2_ENST00000601735.1_RNA|CTD-2013N24.2_ENST00000597950.1_RNA|CTD-2013N24.2_ENST00000596732.1_RNA|CTD-2013N24.2_ENST00000598783.1_RNA|MIR3136_ENST00000583498.1_RNA|TMF1_ENST00000543976.1_Missense_Mutation_p.D91N			P82094	TMF1_HUMAN	TATA element modulatory factor 1	91					acrosome assembly (GO:0001675)|cellular response to organic cyclic compound (GO:0071407)|defense response to bacterium (GO:0042742)|Leydig cell differentiation (GO:0033327)|luteinizing hormone secretion (GO:0032275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of gene expression (GO:0010629)|positive regulation of cytokine production (GO:0001819)|positive regulation of testosterone secretion (GO:2000845)|regulation of proteasomal protein catabolic process (GO:0061136)|regulation of transcription, DNA-templated (GO:0006355)|sperm motility (GO:0030317)|spermatid nucleus differentiation (GO:0007289)|transcription from RNA polymerase II promoter (GO:0006366)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|transcription cofactor activity (GO:0003712)			cervix(1)|kidney(1)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22		Lung NSC(201;0.0193)|Prostate(884;0.174)		BRCA - Breast invasive adenocarcinoma(55;4.48e-05)|Epithelial(33;0.000274)|LUSC - Lung squamous cell carcinoma(21;0.0123)|KIRC - Kidney renal clear cell carcinoma(39;0.211)|Kidney(39;0.247)		TCAGATTCATCGACCACAGTC	0.463																																						ENST00000543976.1																			0				cervix(1)|kidney(1)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						c.(271-273)Gat>Aat		TATA element modulatory factor 1							209	202	204					3																	69097585		1933	4138	6071	SO:0001583	missense	7110				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Golgi membrane|nucleus	DNA binding|protein binding|transcription cofactor activity	g.chr3:69097585C>T		CCDS43105.1	3p21-p12	2009-02-11			ENSG00000144747	ENSG00000144747			11870	protein-coding gene	gene with protein product		601126				1409643	Standard	NM_007114		Approved	ARA160, TMF	uc003dnn.3	P82094	OTTHUMG00000158771	ENST00000398559.2:c.271G>A	3.37:g.69097585C>T	ENSP00000381567:p.Asp91Asn					CTD-2013N24.2_ENST00000482368.2_RNA|CTD-2013N24.2_ENST00000597950.1_RNA|CTD-2013N24.2_ENST00000596274.1_RNA|CTD-2013N24.2_ENST00000596732.1_RNA|CTD-2013N24.2_ENST00000596523.1_RNA|CTD-2013N24.2_ENST00000601735.1_RNA|CTD-2013N24.2_ENST00000595925.1_RNA|TMF1_ENST00000398559.2_Missense_Mutation_p.D91N|CTD-2013N24.2_ENST00000598783.1_RNA	p.D91N	NM_007114.2	NP_009045.2	P82094	TMF1_HUMAN		BRCA - Breast invasive adenocarcinoma(55;4.48e-05)|Epithelial(33;0.000274)|LUSC - Lung squamous cell carcinoma(21;0.0123)|KIRC - Kidney renal clear cell carcinoma(39;0.211)|Kidney(39;0.247)	2	517	-		Lung NSC(201;0.0193)|Prostate(884;0.174)	91					B7ZLJ2|Q17R87|Q59GK0	Missense_Mutation	SNP	ENST00000398559.2	37	c.271G>A	CCDS43105.1	.	.	.	.	.	.	.	.	.	.	C	31	5.101879	0.94245	.	.	ENSG00000144747	ENST00000398559;ENST00000543976;ENST00000356248;ENST00000438636	T;T	0.25749	1.79;1.78	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	T	0.52306	0.1726	M	0.71581	2.175	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.996	T	0.32693	-0.9897	10	0.28530	T	0.3	-26.4945	20.0545	0.97645	0.0:1.0:0.0:0.0	.	91;91	P82094-2;P82094	.;TMF1_HUMAN	N	91	ENSP00000381567:D91N;ENSP00000438706:D91N	ENSP00000348582:D91N	D	-	1	0	TMF1	69180275	1.000000	0.71417	1.000000	0.80357	0.886000	0.51366	7.487000	0.81328	2.748000	0.94277	0.655000	0.94253	GAT		0.463	TMF1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000352106.1	NM_007114		31	229	0	0	0	1	0	31	229					T	69097585	C	T	69097585	3	4	268	1	0	0	0	0	1	0	0	0	16225	884	31	2	3074	2	TMF1	3	69097585	Missense_Mutation	SNP	C	TCGA-J4-A67O-01A-11D-A30E-08		69097585	128924845	4	12530											
ANKRD17	26057	broad.mit.edu	37	chr4	73951097	73951097	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gacctcctgaaatgtttgaaGcaaagtttcccaaatgtgtt	12	13	8	8	0	0	2	0	2	0	0	2	3	2	2	3	0	1	4	3	0	4	3			TCGA-J4-A67O-01A-11D-A30E-08	TCGA-J4-A67O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86a0580e-36fc-4afd-ae47-966d6b1dc108	f8e39928-9a59-4e5a-ba1e-f22910129528	g.chr4:73951097G>A	ENST00000358602.4	-	30	7144	c.7028C>T	c.(7027-7029)gCt>gTt	p.A2343V	ANKRD17_ENST00000509867.2_Missense_Mutation_p.A2230V|ANKRD17_ENST00000330838.6_Missense_Mutation_p.A2092V	NM_032217.3	NP_115593.3	O75179	ANR17_HUMAN	ankyrin repeat domain 17	2343					blood vessel maturation (GO:0001955)|negative regulation of smooth muscle cell differentiation (GO:0051151)|viral process (GO:0016032)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)	96	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			AATGTTTGAAGCAAAGTTTCC	0.428																																						ENST00000358602.4																			0				NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)	96						c.(7027-7029)gCt>gTt		ankyrin repeat domain 17							108	110	109					4																	73951097		2203	4300	6503	SO:0001583	missense	26057				interspecies interaction between organisms	cytoplasm|nucleus	RNA binding	g.chr4:73951097G>A	AB014597	CCDS34003.1, CCDS34004.1, CCDS68721.1	4q21.1-q21.21	2013-01-10			ENSG00000132466	ENSG00000132466		"Ankyrin repeat domain containing"	23575	protein-coding gene	gene with protein product		615929				11165478	Standard	NM_032217		Approved	GTAR, KIAA0697, FLJ22206, NY-BR-16	uc003hgp.3	O75179	OTTHUMG00000160826	ENST00000358602.4:c.7028C>T	4.37:g.73951097G>A	ENSP00000351416:p.Ala2343Val					ANKRD17_ENST00000509867.2_Missense_Mutation_p.A2230V|ANKRD17_ENST00000330838.6_Missense_Mutation_p.A2092V	p.A2343V	NM_032217.3	NP_115593.3	O75179	ANR17_HUMAN	Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		30	7144	-	Breast(15;0.000295)		2343					E7EUV3|G5E964|Q6PJ85|Q6PK85|Q6PKA2|Q86XI3|Q8NDR5|Q96I86|Q9H288|Q9H6J9	Missense_Mutation	SNP	ENST00000358602.4	37	c.7028C>T	CCDS34004.1	.	.	.	.	.	.	.	.	.	.	G	19.33	3.807817	0.70797	.	.	ENSG00000132466	ENST00000358602;ENST00000426990;ENST00000330838;ENST00000509867;ENST00000426917	T;T;T	0.69561	-0.41;-0.39;-0.36	5.81	5.81	0.92471	.	0.000000	0.64402	D	0.000003	T	0.78246	0.4253	L	0.43152	1.355	0.42167	D	0.991628	D;D;D;D	0.67145	0.996;0.996;0.993;0.993	D;D;D;D	0.73380	0.98;0.98;0.956;0.935	T	0.78406	-0.2216	10	0.72032	D	0.01	.	20.4375	0.99097	0.0:0.0:1.0:0.0	.	2342;2092;2343;2230	O75179-2;G5E964;O75179;E7EUV3	.;.;ANR17_HUMAN;.	V	2343;1750;2092;2230;727	ENSP00000351416:A2343V;ENSP00000332265:A2092V;ENSP00000427151:A2230V	ENSP00000332265:A2092V	A	-	2	0	ANKRD17	74169961	1.000000	0.71417	1.000000	0.80357	0.892000	0.51952	7.103000	0.77014	2.906000	0.99361	0.655000	0.94253	GCT		0.428	ANKRD17-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000362475.1	NM_032217		4	161	0	0	0	1	0	4	161					A	73951097	G	A	73951097	3	1	268	1	0	0	0	0	1	0	0	0	646	971	34	3	803	3	ANKRD17	4	73951097	Missense_Mutation	SNP	G	TCGA-J4-A67O-01A-11D-A30E-08		73951097	117203179	5	12531											
OR11A1	26531	broad.mit.edu	37	chr6	29395335	29395335	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcagtgaatacaataaaaaaCaagaaatgcagttcagggat	20	7	9	5	0	1	2	1	1	0	1	1	3	1	3	0	1	3	3	0	1	8	3			TCGA-J4-A67O-01A-11D-A30E-08	TCGA-J4-A67O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86a0580e-36fc-4afd-ae47-966d6b1dc108	f8e39928-9a59-4e5a-ba1e-f22910129528	g.chr6:29395335C>T	ENST00000377149.1	-	5	556	c.84G>A	c.(82-84)ttG>ttA	p.L28L	OR11A1_ENST00000377147.2_Silent_p.L28L|OR11A1_ENST00000377148.1_Silent_p.L28L|OR5V1_ENST00000377154.1_Intron			Q9GZK7	O11A1_HUMAN	olfactory receptor, family 11, subfamily A, member 1	28						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(1)|large_intestine(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	19						CAATAAAAAACAAGAAATGCA	0.408																																						ENST00000377149.1																			0				cervix(1)|large_intestine(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	19						c.(82-84)ttG>ttA		olfactory receptor, family 11, subfamily A, member 1							74	74	74					6																	29395335		1510	2708	4218	SO:0001819	synonymous_variant	0				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr6:29395335C>T		CCDS34363.1	6p22.2-p21.31	2014-02-19	2002-02-28		ENSG00000204694	ENSG00000204694		"GPCR / Class A : Olfactory receptors"	8176	protein-coding gene	gene with protein product			"olfactory receptor, family 11, subfamily A, member 2"	OR11A2			Standard	XM_005249001		Approved	hs6M1-18	uc003nmg.3	Q9GZK7	OTTHUMG00000031225	ENST00000377149.1:c.84G>A	6.37:g.29395335C>T						OR11A1_ENST00000377148.1_Silent_p.L28L|OR11A1_ENST00000377147.2_Silent_p.L28L|OR5V1_ENST00000377154.1_Intron	p.L28L			Q9GZK7	O11A1_HUMAN			5	556	-			28					A2BF33|A6NFQ3|B0S7T2|Q5ST16|Q9GZK8	Silent	SNP	ENST00000377149.1	37	c.84G>A	CCDS34363.1																																																																																				0.408	OR11A1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000193778.1			4	83	0	0	0	1	0	4	83					T	29395335	C	T	29395335	2	4	268	1	0	0	0	0	0	0	0	1	10924	477	17	3		3	OR11A1	6	29395335	Silent	SNP	C	TCGA-J4-A67O-01A-11D-A30E-08		29395335	141719732	6	12532											
CAPN11	11131	broad.mit.edu	37	chr6	44144631	44144631	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctggagatctgcaacctcaCgcctgatacactctctgggg	8	9	10	14	1	3	2	1	1	2	1	4	3	3	2	3	3	3	1	3	3	2	1			TCGA-J4-A67O-01A-11D-A30E-08	TCGA-J4-A67O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86a0580e-36fc-4afd-ae47-966d6b1dc108	f8e39928-9a59-4e5a-ba1e-f22910129528	g.chr6:44144631C>A	ENST00000398776.1	+	11	1171	c.1133C>A	c.(1132-1134)aCg>aAg	p.T378K	CAPN11_ENST00000542245.1_Missense_Mutation_p.T378K	NM_007058.3	NP_008989.2	Q9UMQ6	CAN11_HUMAN	calpain 11	378	Calpain catalytic. {ECO:0000255|PROSITE- ProRule:PRU00239}.				proteolysis (GO:0006508)	acrosomal vesicle (GO:0001669)|cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|peptidase activity (GO:0008233)			breast(3)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)	36	all_cancers(18;3.19e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			TGCAACCTCACGCCTGATACA	0.597																																						ENST00000398776.1																			0				breast(3)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)	36						c.(1132-1134)aCg>aAg		calpain 11							198	193	195					6																	44144631		2092	4227	6319	SO:0001583	missense	11131				proteolysis	acrosomal vesicle	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity	g.chr6:44144631C>A	AJ242832	CCDS47436.1	6p12	2013-01-10			ENSG00000137225	ENSG00000137225		"EF-hand domain containing"	1478	protein-coding gene	gene with protein product		604822				10409436	Standard	NM_007058		Approved		uc003owt.1	Q9UMQ6	OTTHUMG00000014758	ENST00000398776.1:c.1133C>A	6.37:g.44144631C>A	ENSP00000381758:p.Thr378Lys					CAPN11_ENST00000542245.1_Missense_Mutation_p.T378K	p.T378K	NM_007058.3	NP_008989.2	Q9UMQ6	CAN11_HUMAN	Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		11	1171	+	all_cancers(18;3.19e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		378			Calpain catalytic.		B2RA64|Q5T3G1|Q8N4R5	Missense_Mutation	SNP	ENST00000398776.1	37	c.1133C>A	CCDS47436.1	.	.	.	.	.	.	.	.	.	.	C	16.65	3.183038	0.57800	.	.	ENSG00000137225	ENST00000398776;ENST00000542245	D;D	0.88201	-2.35;-2.35	4.55	1.46	0.22682	Peptidase C2, calpain, catalytic domain (3);	0.702507	0.12852	N	0.433875	D	0.93232	0.7844	M	0.93507	3.425	0.39076	D	0.960805	D;D	0.69078	0.987;0.997	D;P	0.64321	0.924;0.794	D	0.91828	0.5473	10	0.87932	D	0	.	9.3082	0.37887	0.0:0.7646:0.0:0.2354	.	32;378	B4DT90;Q9UMQ6	.;CAN11_HUMAN	K	378	ENSP00000381758:T378K;ENSP00000441078:T378K	ENSP00000381758:T378K	T	+	2	0	CAPN11	44252609	0.995000	0.38212	0.590000	0.28732	0.590000	0.36582	3.202000	0.51067	0.437000	0.26423	0.561000	0.74099	ACG		0.597	CAPN11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040714.3			6	263	1	0	0.00198382	1	0.00203341	6	263					A	44144631	C	A	44144631	3	1	268	1	0	0	0	0	1	0	0	0	2624	536	19	5	1175	5	CAPN11	6	44144631	Missense_Mutation	SNP	C	TCGA-J4-A67O-01A-11D-A30E-08	14749296	44144631	126970436	7	12533											
TXNDC3	51314	broad.mit.edu	37	chr7	37903970	37903970	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aggaattatacagtattgctAttatcaaaccggatgctgtg	13	13	9	6	1	1	0	1	0	0	0	1	2	1	2	1	2	4	3	1	2	7	6			TCGA-J4-A67O-01A-11D-A30E-08	TCGA-J4-A67O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86a0580e-36fc-4afd-ae47-966d6b1dc108	f8e39928-9a59-4e5a-ba1e-f22910129528	g.chr7:37903970A>C	ENST00000199447.4	+	9	847	c.475A>C	c.(475-477)Att>Ctt	p.I159L	NME8_ENST00000440017.1_Missense_Mutation_p.I159L|EPDR1_ENST00000476620.1_Intron	NM_016616.4	NP_057700.3	Q8N427	TXND3_HUMAN	NME/NM23 family member 8	159	NDK 1.				cell differentiation (GO:0030154)|cell redox homeostasis (GO:0045454)|CTP biosynthetic process (GO:0006241)|GTP biosynthetic process (GO:0006183)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)|UTP biosynthetic process (GO:0006228)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|nucleoside diphosphate kinase activity (GO:0004550)										CAGTATTGCTATTATCAAACC	0.279																																						ENST00000199447.4																			0											c.(475-477)Att>Ctt		NME/NM23 family member 8							24	26	25					7																	37903970		2193	4287	6480	SO:0001583	missense	51314				cell differentiation|cell redox homeostasis|CTP biosynthetic process|GTP biosynthetic process|multicellular organismal development|spermatogenesis|UTP biosynthetic process	cytoplasm|microtubule cytoskeleton	ATP binding|nucleoside diphosphate kinase activity	g.chr7:37903970A>C	AF202051	CCDS5452.1	7p15.2	2012-05-18	2012-05-18	2012-05-18	ENSG00000086288	ENSG00000086288			16473	protein-coding gene	gene with protein product	"sperm-specific thioredoxin 2"	607421	"thioredoxin domain containing 3 (spermatozoa)"	TXNDC3		11737268, 11768308, 19852809	Standard	NM_016616		Approved	CILD6, SPTRX2, NM23-H8	uc003tfn.3	Q8N427	OTTHUMG00000023716	ENST00000199447.4:c.475A>C	7.37:g.37903970A>C	ENSP00000199447:p.Ile159Leu					EPDR1_ENST00000476620.1_Intron|NME8_ENST00000440017.1_Missense_Mutation_p.I159L	p.I159L	NM_016616.4	NP_057700.3	Q8N427	TXND3_HUMAN			9	847	+			159			NDK 1.		Q9NZH1	Missense_Mutation	SNP	ENST00000199447.4	37	c.475A>C	CCDS5452.1	.	.	.	.	.	.	.	.	.	.	A	15.90	2.969137	0.53614	.	.	ENSG00000086288	ENST00000199447;ENST00000455500;ENST00000444718;ENST00000440017	T;T;T	0.54071	0.96;0.59;0.96	4.65	-0.876	0.10624	.	0.379512	0.21928	N	0.067074	T	0.48429	0.1499	L	0.52905	1.665	0.09310	N	1	P	0.42556	0.783	P	0.50617	0.646	T	0.40478	-0.9561	10	0.20519	T	0.43	-16.6801	4.6962	0.12804	0.5844:0.156:0.2596:0.0	.	159	Q8N427	TXND3_HUMAN	L	159;104;104;159	ENSP00000199447:I159L;ENSP00000390596:I104L;ENSP00000397063:I159L	ENSP00000199447:I159L	I	+	1	0	TXNDC3	37870495	0.646000	0.27295	0.009000	0.14445	0.076000	0.17211	1.051000	0.30417	-0.221000	0.09973	-0.374000	0.07098	ATT		0.279	NME8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219946.1	NM_016616		3	13	0	0	0	1	0	3	13					C	37903970	A	C	37903970	3	2	268	1	0	0	0	0	1	0	0	0	16795	449	16	5	501	5	TXNDC3	7	37903970	Missense_Mutation	SNP	A	TCGA-J4-A67O-01A-11D-A30E-08		37903970	121234693	8	12534											
NOS3	4846	broad.mit.edu	37	chr7	150699374	150699374	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcacatttgggaatggggaTcccccggagaatggagaggt	11	7	16	7	1	0	2	0	0	0	2	1	6	1	4	2	6	1	1	2	6	2	1			TCGA-J4-A67O-01A-11D-A30E-08	TCGA-J4-A67O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86a0580e-36fc-4afd-ae47-966d6b1dc108	f8e39928-9a59-4e5a-ba1e-f22910129528	g.chr7:150699374T>C	ENST00000484524.1	+	13	1734	c.1734T>C	c.(1732-1734)gaT>gaC	p.D578D	NOS3_ENST00000461406.1_Silent_p.D372D|NOS3_ENST00000297494.3_Silent_p.D578D|NOS3_ENST00000467517.1_Silent_p.D578D	NM_001160111.1	NP_001153583.1	P60323	NANO3_HUMAN	nitric oxide synthase 3 (endothelial cell)	0					germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic signaling pathway (GO:2001234)|oogenesis (GO:0048477)|regulation of cell cycle (GO:0051726)|regulation of translation (GO:0006417)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytoplasmic stress granule (GO:0010494)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			NS(3)|breast(3)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(11)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	50	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GGAATGGGGATCCCCCGGAGA	0.562																																						ENST00000297494.3																			0				NS(3)|breast(3)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(11)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						c.(1732-1734)gaT>gaC		nitric oxide synthase 3 (endothelial cell)	L-Arginine(DB00125)|L-Citrulline(DB00155)|Rosuvastatin(DB01098)|Tetrahydrobiopterin(DB00360)						50	42	45					7																	150699374		2202	4296	6498	SO:0001819	synonymous_variant	4846				anti-apoptosis|arginine catabolic process|blood vessel remodeling|endothelial cell migration|mitochondrion organization|negative regulation of muscle hyperplasia|negative regulation of platelet activation|nitric oxide biosynthetic process|platelet activation|positive regulation of angiogenesis|positive regulation of guanylate cyclase activity|positive regulation of vasodilation|regulation of blood vessel size|regulation of nitric-oxide synthase activity|regulation of systemic arterial blood pressure by endothelin|response to fluid shear stress|response to heat|smooth muscle hyperplasia	caveola|cytoskeleton|cytosol|Golgi membrane	actin monomer binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding	g.chr7:150699374T>C		CCDS5912.1, CCDS55182.1, CCDS55183.1	7q36	2007-02-15			ENSG00000164867	ENSG00000164867	1.14.13.39		7876	protein-coding gene	gene with protein product	"endothelial nitric oxide synthase"	163729				1379542	Standard	NM_000603		Approved	ECNOS, eNOS	uc003wif.3	P29474	OTTHUMG00000158343	ENST00000484524.1:c.1734T>C	7.37:g.150699374T>C						NOS3_ENST00000461406.1_Silent_p.D372D|NOS3_ENST00000467517.1_Silent_p.D578D|NOS3_ENST00000484524.1_Silent_p.D578D	p.D578D	NM_000603.4	NP_000594.2	P29474	NOS3_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	14	2091	+	all_neural(206;0.219)		578			Flavodoxin-like.		Q495E5	Silent	SNP	ENST00000484524.1	37	c.1734T>C	CCDS55182.1																																																																																				0.562	NOS3-004	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000351550.1	NM_000603		3	10	0	0	0	1	0	3	10					C	150699374	T	C	150699374	2	2	268	1	0	0	0	0	0	0	0	1	10544	1432	50	4		4	NOS3	7	150699374	Silent	SNP	T	TCGA-J4-A67O-01A-11D-A30E-08	112795404	150699374	8439289	9	12535											
TATDN1	83940	broad.mit.edu	37	chr8	125535240	125535240	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggtcagtcaagttgataccaAtatctgtagaaagcaaaagt	16	10	9	6	0	3	2	2	1	1	1	3	2	3	2	1	1	2	3	1	1	8	4			TCGA-J4-A67O-01A-11D-A30E-08	TCGA-J4-A67O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86a0580e-36fc-4afd-ae47-966d6b1dc108	f8e39928-9a59-4e5a-ba1e-f22910129528	g.chr8:125535240A>G	ENST00000276692.6	-	2	63	c.26T>C	c.(25-27)aTt>aCt	p.I9T	TATDN1_ENST00000519548.1_Intron|TATDN1_ENST00000605953.1_Missense_Mutation_p.I9T|TATDN1_ENST00000517678.1_5'UTR|TATDN1_ENST00000521546.1_5'UTR	NM_032026.3	NP_114415.1	Q6P1N9	TATD1_HUMAN	TatD DNase domain containing 1	9					DNA catabolic process (GO:0006308)	intracellular organelle (GO:0043229)|nucleus (GO:0005634)	deoxyribonuclease activity (GO:0004536)|endodeoxyribonuclease activity, producing 5'-phosphomonoesters (GO:0016888)|metal ion binding (GO:0046872)			endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)	15	Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)			GTTGATACCAATATCTGTAGA	0.328																																						ENST00000276692.6																			0				endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)	15						c.(25-27)aTt>aCt		TatD DNase domain containing 1							76	81	79					8																	125535240		2203	4300	6503	SO:0001583	missense	83940					nucleus	endodeoxyribonuclease activity, producing 5'-phosphomonoesters|metal ion binding	g.chr8:125535240A>G	AF212250	CCDS6351.1, CCDS55273.1	8q24.13	2004-06-07			ENSG00000147687	ENSG00000147687			24220	protein-coding gene	gene with protein product						12477932	Standard	NM_032026		Approved	CDA11	uc003yrd.2	Q6P1N9	OTTHUMG00000165068	ENST00000276692.6:c.26T>C	8.37:g.125535240A>G	ENSP00000276692:p.Ile9Thr					TATDN1_ENST00000521546.1_5'UTR|TATDN1_ENST00000519548.1_Intron|TATDN1_ENST00000517678.1_5'UTR|TATDN1_ENST00000605953.1_Missense_Mutation_p.I9T	p.I9T	NM_032026.3	NP_114415.1	Q6P1N9	TATD1_HUMAN	STAD - Stomach adenocarcinoma(47;0.00288)		2	63	-	Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108)		9					B2R5J0|Q8TD02|Q9BY40	Missense_Mutation	SNP	ENST00000276692.6	37	c.26T>C	CCDS6351.1	.	.	.	.	.	.	.	.	.	.	a	18.84	3.709440	0.68730	.	.	ENSG00000147687	ENST00000276692;ENST00000522810	.	.	.	5.54	4.38	0.52667	.	0.048370	0.85682	N	0.000000	T	0.76090	0.3939	M	0.75777	2.31	0.80722	D	1	P;D	0.67145	0.803;0.996	P;D	0.73708	0.539;0.981	T	0.76503	-0.2935	9	0.51188	T	0.08	-14.4509	11.1089	0.48221	0.9274:0.0:0.0726:0.0	.	9;9	E5RG17;Q6P1N9	.;TATD1_HUMAN	T	9	.	ENSP00000276692:I9T	I	-	2	0	TATDN1	125604421	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	5.427000	0.66483	1.036000	0.39998	-0.267000	0.10333	ATT		0.328	TATDN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381655.1	NM_032026		9	49	0	0	0	1	0	9	49					G	125535240	A	G	125535240	3	3	268	1	0	0	0	0	1	0	0	0	15588	101	4	4	911	4	TATDN1	8	125535240	Missense_Mutation	SNP	A	TCGA-J4-A67O-01A-11D-A30E-08		125535240	20828782	10	12536											
FRMD3	257019	broad.mit.edu	37	chr9	85863145	85863145	+	Missense_Mutation	SNP	C	C	G																															agctcctcttcttcagcaatCaaaaaggcgttttcatctgc																										TCGA-J4-A67O-01A-11D-A30E-08	TCGA-J4-A67O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86a0580e-36fc-4afd-ae47-966d6b1dc108	f8e39928-9a59-4e5a-ba1e-f22910129528	g.chr9:85863145C>G	ENST00000304195.3	-	14	1688	c.1482G>C	c.(1480-1482)ttG>ttC	p.L494F	FRMD3_ENST00000328788.1_Missense_Mutation_p.L151F|FRMD3_ENST00000465485.1_5'UTR|FRMD3_ENST00000376438.1_Missense_Mutation_p.L494F|FRMD3_ENST00000376434.1_Missense_Mutation_p.L300F	NM_001244960.1|NM_174938.5	NP_001231889.1|NP_777598.3	A2A2Y4	FRMD3_HUMAN	FERM domain containing 3	494						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)|integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|liver(1)|lung(15)|ovary(1)|upper_aerodigestive_tract(1)	30						CTTCAGCAATCAAAAAGGCGT	0.468																																						ENST00000304195.3																			0				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|liver(1)|lung(15)|ovary(1)|upper_aerodigestive_tract(1)	30						c.(1480-1482)ttG>ttC		FERM domain containing 3							127	127	127					9																	85863145		1966	4161	6127	SO:0001583	missense	257019					cytoplasm|cytoskeleton|extrinsic to membrane|integral to membrane	cytoskeletal protein binding	g.chr9:85863145C>G	AK094281	CCDS43840.1, CCDS59131.1, CCDS59132.1, CCDS59133.1, CCDS75852.1	9q21.33	2008-02-05			ENSG00000172159	ENSG00000172159			24125	protein-coding gene	gene with protein product		607619				12601556	Standard	NM_174938		Approved	EPB41L4O, MGC20553	uc004ams.2	A2A2Y4	OTTHUMG00000020103	ENST00000304195.3:c.1482G>C	9.37:g.85863145C>G	ENSP00000303508:p.Leu494Phe					FRMD3_ENST00000465485.1_5'UTR|FRMD3_ENST00000328788.1_Missense_Mutation_p.L151F|FRMD3_ENST00000376438.1_Missense_Mutation_p.L494F|FRMD3_ENST00000376434.1_Missense_Mutation_p.L300F	p.L494F	NM_001244960.1|NM_174938.5	NP_001231889.1|NP_777598.3	A2A2Y4	FRMD3_HUMAN			14	1688	-			494					A8MQB0|B4DN14|Q53EP2|Q5JV59|Q5VZA1|Q86WP8|Q8IZ44|Q8N3Y5|Q8N9L2	Missense_Mutation	SNP	ENST00000304195.3	37	c.1482G>C	CCDS43840.1	.	.	.	.	.	.	.	.	.	.	C	7.376	0.627745	0.14257	.	.	ENSG00000172159	ENST00000376438;ENST00000376434;ENST00000328788;ENST00000304195	D;D;T;D	0.86366	-1.71;-2.11;0.76;-1.71	5.72	4.78	0.61160	.	0.251398	0.35495	N	0.003172	D	0.90947	0.7154	L	0.54323	1.7	0.38104	D	0.937362	D;D;D	0.89917	0.985;0.982;1.0	P;P;D	0.85130	0.724;0.764;0.997	D	0.91882	0.5516	10	0.56958	D	0.05	.	11.7183	0.51666	0.0:0.8454:0.0:0.1546	.	494;494;151	A2A2Y4;A2A2Y4-2;A2A2Y4-4	FRMD3_HUMAN;.;.	F	494;300;151;494	ENSP00000365621:L494F;ENSP00000365617:L300F;ENSP00000328615:L151F;ENSP00000303508:L494F	ENSP00000303508:L494F	L	-	3	2	FRMD3	85052965	1.000000	0.71417	0.988000	0.46212	0.937000	0.57800	4.606000	0.61126	1.319000	0.45190	0.655000	0.94253	TTG		0.468	FRMD3-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157355.1	NM_174938		20	148	0	0	0	1	0	20	148					G	85863145	C	G	85863145	3	3	268	1	0	0	0	0	1	0	0	0	6050	825	29	5	315	5	FRMD3	9	85863145	Missense_Mutation	SNP	C	TCGA-J4-A67O-01A-11D-A30E-08		85863145	55350286	11	12537	66	2									
FRMD3	257019	broad.mit.edu	37	chr9	85863147	85863147	+	Missense_Mutation	SNP	A	A	C																															ctcctcttcttcagcaatcaAaaaggcgttttcatctgctt																										TCGA-J4-A67O-01A-11D-A30E-08	TCGA-J4-A67O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86a0580e-36fc-4afd-ae47-966d6b1dc108	f8e39928-9a59-4e5a-ba1e-f22910129528	g.chr9:85863147A>C	ENST00000304195.3	-	14	1686	c.1480T>G	c.(1480-1482)Ttg>Gtg	p.L494V	FRMD3_ENST00000328788.1_Missense_Mutation_p.L151V|FRMD3_ENST00000465485.1_5'UTR|FRMD3_ENST00000376438.1_Missense_Mutation_p.L494V|FRMD3_ENST00000376434.1_Missense_Mutation_p.L300V	NM_001244960.1|NM_174938.5	NP_001231889.1|NP_777598.3	A2A2Y4	FRMD3_HUMAN	FERM domain containing 3	494						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)|integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|liver(1)|lung(15)|ovary(1)|upper_aerodigestive_tract(1)	30						TCAGCAATCAAAAAGGCGTTT	0.478																																						ENST00000304195.3																			0				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|liver(1)|lung(15)|ovary(1)|upper_aerodigestive_tract(1)	30						c.(1480-1482)Ttg>Gtg		FERM domain containing 3							130	129	130					9																	85863147		1962	4160	6122	SO:0001583	missense	257019					cytoplasm|cytoskeleton|extrinsic to membrane|integral to membrane	cytoskeletal protein binding	g.chr9:85863147A>C	AK094281	CCDS43840.1, CCDS59131.1, CCDS59132.1, CCDS59133.1, CCDS75852.1	9q21.33	2008-02-05			ENSG00000172159	ENSG00000172159			24125	protein-coding gene	gene with protein product		607619				12601556	Standard	NM_174938		Approved	EPB41L4O, MGC20553	uc004ams.2	A2A2Y4	OTTHUMG00000020103	ENST00000304195.3:c.1480T>G	9.37:g.85863147A>C	ENSP00000303508:p.Leu494Val					FRMD3_ENST00000465485.1_5'UTR|FRMD3_ENST00000328788.1_Missense_Mutation_p.L151V|FRMD3_ENST00000376438.1_Missense_Mutation_p.L494V|FRMD3_ENST00000376434.1_Missense_Mutation_p.L300V	p.L494V	NM_001244960.1|NM_174938.5	NP_001231889.1|NP_777598.3	A2A2Y4	FRMD3_HUMAN			14	1686	-			494					A8MQB0|B4DN14|Q53EP2|Q5JV59|Q5VZA1|Q86WP8|Q8IZ44|Q8N3Y5|Q8N9L2	Missense_Mutation	SNP	ENST00000304195.3	37	c.1480T>G	CCDS43840.1	.	.	.	.	.	.	.	.	.	.	A	4.706	0.131342	0.08981	.	.	ENSG00000172159	ENST00000376438;ENST00000376434;ENST00000328788;ENST00000304195	D;D;T;D	0.86164	-1.67;-2.08;0.81;-1.67	5.72	-4.87	0.03123	.	0.251398	0.35495	N	0.003172	D	0.87277	0.6137	L	0.43152	1.355	0.25610	N	0.986502	P;P;D	0.71674	0.9;0.884;0.998	B;B;D	0.77557	0.219;0.256;0.99	T	0.81822	-0.0756	10	0.30078	T	0.28	.	12.2418	0.54546	0.3842:0.0:0.527:0.0888	.	494;494;151	A2A2Y4;A2A2Y4-2;A2A2Y4-4	FRMD3_HUMAN;.;.	V	494;300;151;494	ENSP00000365621:L494V;ENSP00000365617:L300V;ENSP00000328615:L151V;ENSP00000303508:L494V	ENSP00000303508:L494V	L	-	1	2	FRMD3	85052967	0.111000	0.22076	0.846000	0.33378	0.915000	0.54546	-0.592000	0.05747	-1.388000	0.02092	-1.139000	0.01908	TTG		0.478	FRMD3-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157355.1	NM_174938		20	150	0	0	0	1	0	20	150					C	85863147	A	C	85863147	3	2	268	1	0	0	0	0	1	0	0	0	6050	11	1	5	317	5	FRMD3	9	85863147	Missense_Mutation	SNP	A	TCGA-J4-A67O-01A-11D-A30E-08	2	85863147	55350284	12	12538	66	2									
COBRA1	25920	broad.mit.edu	37	chr9	140157669	140157669	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgcaccgtggacccgtgcCacaaggtagcactgccctcc	7	7	10	17	2	1	0	0	0	1	0	2	1	2	1	5	2	4	3	5	2	2	1			TCGA-J4-A67O-01A-11D-A30E-08	TCGA-J4-A67O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86a0580e-36fc-4afd-ae47-966d6b1dc108	f8e39928-9a59-4e5a-ba1e-f22910129528	g.chr9:140157669C>T	ENST00000343053.4	+	5	1115	c.778C>T	c.(778-780)Cac>Tac	p.H260Y		NM_015456.3	NP_056271.2	Q8WX92	NELFB_HUMAN	negative elongation factor complex member B	260					gene expression (GO:0010467)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of viral transcription (GO:0050434)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	cytoplasm (GO:0005737)|NELF complex (GO:0032021)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)											GGACCCGTGCCACAAGGTAGC	0.662																																						ENST00000343053.4																			0											c.(778-780)Cac>Tac		negative elongation factor complex member B							138	120	126					9																	140157669		2203	4300	6503	SO:0001583	missense	25920							g.chr9:140157669C>T	AF464935	CCDS7040.1	9q34	2013-01-31	2013-01-31	2013-01-31	ENSG00000188986	ENSG00000188986			24324	protein-coding gene	gene with protein product		611180	"cofactor of BRCA1"	COBRA1		11230166, 10574461, 17910036, 17659869	Standard	NM_015456		Approved	KIAA1182, NELF-B	uc004cmm.4	Q8WX92	OTTHUMG00000131778	ENST00000343053.4:c.778C>T	9.37:g.140157669C>T	ENSP00000339495:p.His260Tyr						p.H260Y	NM_015456.3	NP_056271.2					5	1115	+								A2BFA3|Q96EW5|Q9H9R4|Q9ULN8|Q9Y3W0	Missense_Mutation	SNP	ENST00000343053.4	37	c.778C>T	CCDS7040.1	.	.	.	.	.	.	.	.	.	.	c	14.86	2.662841	0.47572	.	.	ENSG00000188986	ENST00000343053	.	.	.	4.97	4.97	0.65823	.	0.000000	0.85682	D	0.000000	T	0.76608	0.4011	M	0.64260	1.97	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	T	0.76353	-0.2990	9	0.41790	T	0.15	-41.7143	16.8077	0.85710	0.0:1.0:0.0:0.0	.	260	Q8WX92	NELFB_HUMAN	Y	260	.	ENSP00000339495:H260Y	H	+	1	0	COBRA1	139277490	1.000000	0.71417	1.000000	0.80357	0.333000	0.28666	7.741000	0.84997	2.285000	0.76669	0.298000	0.19748	CAC		0.662	NELFB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254710.1	NM_015456		11	67	0	0	0	1	0	11	67					T	140157669	C	T	140157669	3	4	268	1	0	0	0	0	1	0	0	0	3655	594	21	3	796	3	COBRA1	9	140157669	Missense_Mutation	SNP	C	TCGA-J4-A67O-01A-11D-A30E-08	54294522	140157669	1055762	13	12539											
PANK1	53354	broad.mit.edu	37	chr10	91371708	91371708	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cggatgctcttcaggttctcCacttcctcttgctcctcttc	3	16	6	16	1	5	0	1	0	4	0	9	1	7	1	3	2	2	3	3	2	0	5			TCGA-J4-A67O-01A-11D-A30E-08	TCGA-J4-A67O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86a0580e-36fc-4afd-ae47-966d6b1dc108	f8e39928-9a59-4e5a-ba1e-f22910129528	g.chr10:91371708C>G	ENST00000307534.4	-	2	956	c.801G>C	c.(799-801)gtG>gtC	p.V267V	PANK1_ENST00000342512.3_Silent_p.V42V|PANK1_ENST00000371774.2_Silent_p.V69V|PANK1_ENST00000322191.6_Silent_p.V42V	NM_148977.2	NP_683878.1	Q8TE04	PANK1_HUMAN	pantothenate kinase 1	267					coenzyme A biosynthetic process (GO:0015937)|coenzyme biosynthetic process (GO:0009108)|pantothenate metabolic process (GO:0015939)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cell periphery (GO:0071944)|clathrin coat (GO:0030118)|cytosol (GO:0005829)|nucleus (GO:0005634)|recycling endosome (GO:0055037)	ATP binding (GO:0005524)|pantothenate kinase activity (GO:0004594)			cervix(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)	11						TCAGGTTCTCCACTTCCTCTT	0.473																																						ENST00000307534.4																			0				cervix(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)	11						c.(799-801)gtG>gtC		pantothenate kinase 1	Bezafibrate(DB01393)						116	105	108					10																	91371708		2203	4300	6503	SO:0001819	synonymous_variant	53354				coenzyme A biosynthetic process|pantothenate metabolic process	cytosol|nucleus	ATP binding|pantothenate kinase activity	g.chr10:91371708C>G	AF355198	CCDS7405.1, CCDS7406.1, CCDS31244.1	10q23.31	2008-05-14	2002-11-13	2002-11-15	ENSG00000152782	ENSG00000152782			8598	protein-coding gene	gene with protein product		606160	"pantothenate kinase"	PANK		11809413	Standard	NM_148977		Approved	MGC24596, PANK1a, PANK1b	uc001kgp.2	Q8TE04	OTTHUMG00000018718	ENST00000307534.4:c.801G>C	10.37:g.91371708C>G						PANK1_ENST00000371774.2_Silent_p.V69V|PANK1_ENST00000342512.3_Silent_p.V42V|PANK1_ENST00000322191.6_Silent_p.V42V	p.V267V	NM_148977.2	NP_683878.1	Q8TE04	PANK1_HUMAN			2	956	-			267					A6NIP0|Q7RTX6|Q7Z495|Q8TBQ8	Silent	SNP	ENST00000307534.4	37	c.801G>C	CCDS31244.1																																																																																				0.473	PANK1-201	KNOWN	basic|CCDS	protein_coding	protein_coding				11	79	0	0	0	1	0	11	79					G	91371708	C	G	91371708	2	3	268	1	0	0	0	0	0	0	0	1	11416	581	21	5		5	PANK1	10	91371708	Silent	SNP	C	TCGA-J4-A67O-01A-11D-A30E-08		91371708	44163039	14	12540											
MAP4K2	5871	broad.mit.edu	37	chr11	64559403	64559403	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtgggatgaggatgtcgggCgtcaggccagcctccagggg	6	6	20	9	2	1	1	1	1	0	0	3	3	2	3	3	7	1	0	3	7	0	0			TCGA-J4-A67O-01A-11D-A30E-08	TCGA-J4-A67O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86a0580e-36fc-4afd-ae47-966d6b1dc108	f8e39928-9a59-4e5a-ba1e-f22910129528	g.chr11:64559403C>T	ENST00000294066.2	-	27	2161	c.2070G>A	c.(2068-2070)acG>acA	p.T690T	MAP4K2_ENST00000377350.3_Silent_p.T682T	NM_004579.3	NP_004570.2	Q12851	M4K2_HUMAN	mitogen-activated protein kinase kinase kinase kinase 2	690	CNH. {ECO:0000255|PROSITE- ProRule:PRU00795}.				activation of JUN kinase activity (GO:0007257)|immune response (GO:0006955)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|JNK cascade (GO:0007254)|positive regulation of JNK cascade (GO:0046330)|protein phosphorylation (GO:0006468)|vesicle targeting (GO:0006903)	Golgi membrane (GO:0000139)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|mitogen-activated protein kinase kinase kinase binding (GO:0031435)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			cervix(1)|lung(3)|ovary(1)|pancreas(1)|urinary_tract(2)	8						GGATGTCGGGCGTCAGGCCAG	0.692																																						ENST00000294066.2																			0				cervix(1)|lung(3)|ovary(1)|pancreas(1)|urinary_tract(2)	8						c.(2068-2070)acG>acA		mitogen-activated protein kinase kinase kinase kinase 2							11	13	13					11																	64559403		2187	4283	6470	SO:0001819	synonymous_variant	5871				activation of JUN kinase activity|immune response|positive regulation of JNK cascade|vesicle targeting	basolateral plasma membrane|Golgi membrane|soluble fraction	ATP binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chr11:64559403C>T	BC047865	CCDS8082.1	11q13.1	2011-06-09			ENSG00000168067	ENSG00000168067		"Mitogen-activated protein kinase cascade / Kinase kinase kinase kinases"	6864	protein-coding gene	gene with protein product		603166		RAB8IP		7515885	Standard	NM_004579		Approved	GCK, BL44	uc001obh.3	Q12851	OTTHUMG00000045328	ENST00000294066.2:c.2070G>A	11.37:g.64559403C>T						MAP4K2_ENST00000377350.3_Silent_p.T682T	p.T690T	NM_004579.3	NP_004570.2	Q12851	M4K2_HUMAN			27	2161	-			690			CNH.		Q86VU3	Silent	SNP	ENST00000294066.2	37	c.2070G>A	CCDS8082.1																																																																																				0.692	MAP4K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000105239.1	NM_004579		5	7	0	0	0	1	0	5	7					T	64559403	C	T	64559403	2	4	268	1	0	0	0	0	0	0	0	1	9260	755	27	1		1	MAP4K2	11	64559403	Silent	SNP	C	TCGA-J4-A67O-01A-11D-A30E-08		64559403	70447113	15	12541											
OR6T1	219874	broad.mit.edu	37	chr11	123814182	123814182	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcggcagattgccaggtaacGatccagagacatgacggcca	12	6	12	11	3	0	3	0	1	0	2	2	5	1	3	3	3	2	2	3	3	1	2			TCGA-J4-A67O-01A-11D-A30E-08	TCGA-J4-A67O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86a0580e-36fc-4afd-ae47-966d6b1dc108	f8e39928-9a59-4e5a-ba1e-f22910129528	g.chr11:123814182G>A	ENST00000321252.2	-	1	398	c.364C>T	c.(364-366)Cgt>Tgt	p.R122C		NM_001005187.1	NP_001005187.1	Q8NGN1	OR6T1_HUMAN	olfactory receptor, family 6, subfamily T, member 1	122						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R122S(1)|p.R122C(1)		breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401)		GCCAGGTAACGATCCAGAGAC	0.527																																						ENST00000321252.2																			2	Substitution - Missense(2)	p.R122S(1)|p.R122C(1)	kidney(1)|skin(1)	breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						c.(364-366)Cgt>Tgt		olfactory receptor, family 6, subfamily T, member 1							89	75	80					11																	123814182		2202	4299	6501	SO:0001583	missense	219874				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:123814182G>A	AB065759	CCDS31700.1	11q24.1	2012-08-09			ENSG00000181499	ENSG00000181499		"GPCR / Class A : Olfactory receptors"	14848	protein-coding gene	gene with protein product							Standard	NM_001005187		Approved		uc010sab.2	Q8NGN1	OTTHUMG00000165962	ENST00000321252.2:c.364C>T	11.37:g.123814182G>A	ENSP00000325203:p.Arg122Cys						p.R122C	NM_001005187.1	NP_001005187.1	Q8NGN1	OR6T1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401)	1	398	-		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	122					Q6IFE7	Missense_Mutation	SNP	ENST00000321252.2	37	c.364C>T	CCDS31700.1	.	.	.	.	.	.	.	.	.	.	G	15.66	2.899531	0.52227	.	.	ENSG00000181499	ENST00000321252	T	0.77358	-1.09	3.85	2.9	0.33743	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	D	0.87410	0.6170	M	0.85462	2.755	0.34811	D	0.737747	D	0.89917	1.0	D	0.91635	0.999	D	0.90045	0.4145	9	0.66056	D	0.02	-40.5181	10.1214	0.42623	0.0:0.0:0.7982:0.2018	.	122	Q8NGN1	OR6T1_HUMAN	C	122	ENSP00000325203:R122C	ENSP00000325203:R122C	R	-	1	0	OR6T1	123319392	0.791000	0.28800	0.018000	0.16275	0.986000	0.74619	1.792000	0.38754	0.768000	0.33290	0.563000	0.77884	CGT		0.527	OR6T1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387264.1	NM_001005187		3	34	0	0	0	1	0	3	34					A	123814182	G	A	123814182	3	1	268	1	0	0	0	0	1	0	0	0	11210	1058	37	2	610	2	OR6T1	11	123814182	Missense_Mutation	SNP	G	TCGA-J4-A67O-01A-11D-A30E-08	59254779	123814182	11192334	16	12542											
SLC6A13	6540	broad.mit.edu	37	chr12	369173	369173	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ttccatgactggatacactgGttttgtctctccattactgg	7	16	8	10	0	1	1	0	1	1	0	4	2	3	2	2	3	2	1	2	3	2	5			TCGA-J4-A67O-01A-11D-A30E-08	TCGA-J4-A67O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86a0580e-36fc-4afd-ae47-966d6b1dc108	f8e39928-9a59-4e5a-ba1e-f22910129528	g.chr12:369173G>A	ENST00000343164.4	-	2	98	c.46C>T	c.(46-48)Cca>Tca	p.P16S	RP11-283I3.4_ENST00000540868.1_RNA|SLC6A13_ENST00000445055.2_Missense_Mutation_p.P16S|SLC6A13_ENST00000436453.1_Missense_Mutation_p.P16S	NM_016615.4	NP_057699.2	Q9NSD5	S6A13_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 13	16					neurotransmitter secretion (GO:0007269)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	gamma-aminobutyric acid:sodium symporter activity (GO:0005332)|neurotransmitter:sodium symporter activity (GO:0005328)			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(1)	28	all_cancers(10;0.0416)|all_epithelial(11;0.0537)|all_lung(10;0.0989)|Lung NSC(10;0.139)|Ovarian(42;0.142)		OV - Ovarian serous cystadenocarcinoma(31;0.00153)|BRCA - Breast invasive adenocarcinoma(9;0.239)			GGATACACTGGTTTTGTCTCT	0.517																																						ENST00000343164.4																			0				NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(1)	28						c.(46-48)Cca>Tca		solute carrier family 6 (neurotransmitter transporter), member 13							203	189	194					12																	369173		2203	4300	6503	SO:0001583	missense	6540				neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity	g.chr12:369173G>A	U76343	CCDS8502.1, CCDS53729.1, CCDS58198.1	12p13.33	2013-07-19	2013-07-19		ENSG00000010379	ENSG00000010379		"Solute carriers"	11046	protein-coding gene	gene with protein product	"GABA transporter 2"	615097	"solute carrier family 6 (neurotransmitter transporter, GABA), member 13"				Standard	NM_001243392		Approved	GAT2	uc001qic.2	Q9NSD5	OTTHUMG00000168053	ENST00000343164.4:c.46C>T	12.37:g.369173G>A	ENSP00000339260:p.Pro16Ser					SLC6A13_ENST00000436453.1_Missense_Mutation_p.P16S|SLC6A13_ENST00000445055.2_Missense_Mutation_p.P16S	p.P16S	NM_016615.4	NP_057699.2	Q9NSD5	S6A13_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00153)|BRCA - Breast invasive adenocarcinoma(9;0.239)		2	98	-	all_cancers(10;0.0416)|all_epithelial(11;0.0537)|all_lung(10;0.0989)|Lung NSC(10;0.139)|Ovarian(42;0.142)		16					B4DJL1|Q8TCC2|Q8WW56	Missense_Mutation	SNP	ENST00000343164.4	37	c.46C>T	CCDS8502.1	.	.	.	.	.	.	.	.	.	.	G	7.879	0.729754	0.15507	.	.	ENSG00000010379	ENST00000445055;ENST00000343164;ENST00000546319;ENST00000436453	T;T;T;T	0.73047	-0.7;-0.71;0.12;0.44	5.94	4.08	0.47627	.	0.770957	0.12320	N	0.479312	T	0.49440	0.1557	N	0.19112	0.55	0.19300	N	0.99997	B;P;B	0.40731	0.001;0.728;0.0	B;B;B	0.35114	0.002;0.196;0.001	T	0.24083	-1.0170	10	0.07813	T	0.8	.	10.2229	0.43207	0.067:0.2592:0.6738:0.0	.	16;16;16	B4DJL1;Q8WW56;Q9NSD5	.;.;S6A13_HUMAN	S	16	ENSP00000407104:P16S;ENSP00000339260:P16S;ENSP00000444606:P16S;ENSP00000389316:P16S	ENSP00000339260:P16S	P	-	1	0	SLC6A13	239434	0.999000	0.42202	0.170000	0.22879	0.058000	0.15608	2.760000	0.47581	0.806000	0.34183	0.563000	0.77884	CCA		0.517	SLC6A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397801.1	NM_016615		20	179	0	0	0	1	0	20	179					A	369173	G	A	369173	3	1	268	1	0	0	0	0	1	0	0	0	14676	1261	44	3	1818	3	SLC6A13	12	369173	Missense_Mutation	SNP	G	TCGA-J4-A67O-01A-11D-A30E-08		369173	133482722	17	12543											
GPC5	2262	broad.mit.edu	37	chr13	92345964	92345964	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtcatgcgaggctgcctggcGcacatggcggagcttaatcc	7	8	14	12	3	1	0	1	0	0	0	2	2	2	1	2	4	3	3	2	4	1	1	rs147274494	byFrequency	TCGA-J4-A67O-01A-11D-A30E-08	TCGA-J4-A67O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86a0580e-36fc-4afd-ae47-966d6b1dc108	f8e39928-9a59-4e5a-ba1e-f22910129528	g.chr13:92345964G>A	ENST00000377067.3	+	3	1221	c.849G>A	c.(847-849)gcG>gcA	p.A283A		NM_004466.4	NP_004457.1	P78333	GPC5_HUMAN	glypican 5	283					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|breast(4)|endometrium(6)|kidney(4)|large_intestine(7)|lung(34)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69	all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	Lung NSC(4;0.00454)				GCTGCCTGGCGCACATGGCGG	0.552																																						ENST00000377067.3																			0				NS(1)|breast(4)|endometrium(6)|kidney(4)|large_intestine(7)|lung(34)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69						c.(847-849)gcG>gcA		glypican 5		G		0,4406		0,0,2203	113	100	104		849	-11.2	0.5	13	dbSNP_134	104	3,8597	3.0+/-9.4	0,3,4297	no	coding-synonymous	GPC5	NM_004466.4		0,3,6500	AA,AG,GG		0.0349,0.0,0.0231		283/573	92345964	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	2262					anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding	g.chr13:92345964G>A	AF001462	CCDS9468.1	13q32	2011-08-01			ENSG00000179399	ENSG00000179399		"Proteoglycans / Cell Surface : Glypicans"	4453	protein-coding gene	gene with protein product	"glypican proteoglycan 5"	602446				9070915, 20304703, 19556317, 15057823	Standard	NM_004466		Approved		uc010tif.2	P78333	OTTHUMG00000017200	ENST00000377067.3:c.849G>A	13.37:g.92345964G>A							p.A283A	NM_004466.4	NP_004457.1	P78333	GPC5_HUMAN			3	1221	+	all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	Lung NSC(4;0.00454)	283					B2R726|O60436|Q9BX27	Silent	SNP	ENST00000377067.3	37	c.849G>A	CCDS9468.1																																																																																				0.552	GPC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045454.1	NM_004466		13	84	0	0	0	1	0	13	84					A	92345964	G	A	92345964	2	1	268	1	0	0	0	0	0	0	0	1	6601	1074	38	1		1	GPC5	13	92345964	Silent	SNP	G	TCGA-J4-A67O-01A-11D-A30E-08		92345964	22823914	18	12544											
CDC42BPB	9578	broad.mit.edu	37	chr14	103416203	103416203	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcacagacgactgcatatgcGcgctgccatcccttcttcac	8	10	7	16	3	3	1	2	0	1	1	4	2	4	1	2	0	3	2	2	0	1	3			TCGA-J4-A67O-01A-11D-A30E-08	TCGA-J4-A67O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86a0580e-36fc-4afd-ae47-966d6b1dc108	f8e39928-9a59-4e5a-ba1e-f22910129528	g.chr14:103416203G>T	ENST00000361246.2	-	26	3636	c.3348C>A	c.(3346-3348)cgC>cgA	p.R1116R		NM_006035.3	NP_006026.3			CDC42 binding protein kinase beta (DMPK-like)											NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(11)|liver(1)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	49		Melanoma(154;0.155)		Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199)		CTGCATATGCGCGCTGCCATC	0.557																																						ENST00000361246.2																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(11)|liver(1)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	49						c.(3346-3348)cgC>cgA		CDC42 binding protein kinase beta (DMPK-like)							132	125	128					14																	103416203		2203	4300	6503	SO:0001819	synonymous_variant	9578				actin cytoskeleton reorganization|establishment or maintenance of cell polarity|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm|cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chr14:103416203G>T	AF128625	CCDS9978.1	14q32.32	2010-05-12	2001-11-28		ENSG00000198752	ENSG00000198752			1738	protein-coding gene	gene with protein product		614062	"CDC42-binding protein kinase beta (DMPK-like)"			10198171	Standard	NM_006035		Approved	MRCKB, KIAA1124	uc001ymi.1	Q9Y5S2		ENST00000361246.2:c.3348C>A	14.37:g.103416203G>T							p.R1116R	NM_006035.3	NP_006026.3	Q9Y5S2	MRCKB_HUMAN		Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199)	26	3636	-		Melanoma(154;0.155)	1116			PH.			Silent	SNP	ENST00000361246.2	37	c.3348C>A	CCDS9978.1																																																																																				0.557	CDC42BPB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415711.1	NM_006035		18	115	1	0	3.51602e-12	1	3.89613e-12	18	115					T	103416203	G	T	103416203	2	4	268	1	0	0	0	0	0	0	0	1	3073	1074	38	5		5	CDC42BPB	14	103416203	Silent	SNP	G	TCGA-J4-A67O-01A-11D-A30E-08		103416203	3933337	19	12545											
MGA	23269	broad.mit.edu	37	chr15	42035035	42035035	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgacgtggaaactaaagaaaCtacttattcttctggtgcca	13	12	8	8	1	2	2	0	1	2	1	2	3	2	3	1	2	4	0	1	2	6	5			TCGA-J4-A67O-01A-11D-A30E-08	TCGA-J4-A67O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86a0580e-36fc-4afd-ae47-966d6b1dc108	f8e39928-9a59-4e5a-ba1e-f22910129528	g.chr15:42035035C>T	ENST00000570161.1	+	14	4877	c.4877C>T	c.(4876-4878)aCt>aTt	p.T1626I	MGA_ENST00000219905.7_Missense_Mutation_p.T1626I|MGA_ENST00000389936.4_Missense_Mutation_p.T1626I|MGA_ENST00000566586.1_Intron|MGA_ENST00000545763.1_Intron			O43451	MGA_HUMAN	MGA, MAX dimerization protein	0	Glucoamylase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)			NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)	Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	ACTAAAGAAACTACTTATTCT	0.448																																						ENST00000219905.7																			0				NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95						c.(4876-4878)aCt>aTt		MGA, MAX dimerization protein							82	79	80					15																	42035035		1882	4115	5997	SO:0001583	missense	23269					MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr15:42035035C>T	AB011090	CCDS55959.1, CCDS55960.1	15q15	2012-11-15	2012-11-15		ENSG00000174197	ENSG00000174197		"MAX dimerization proteins", "T-boxes"	14010	protein-coding gene	gene with protein product			"MAX gene associated"				Standard	NM_001080541		Approved	KIAA0518, MAD5, MXD5, FLJ12634	uc010ucy.2	Q8IWI9		ENST00000570161.1:c.4877C>T	15.37:g.42035035C>T	ENSP00000457035:p.Thr1626Ile					MGA_ENST00000389936.4_Missense_Mutation_p.T1626I|MGA_ENST00000566586.1_Intron|MGA_ENST00000570161.1_Missense_Mutation_p.T1626I|MGA_ENST00000545763.1_Intron	p.T1626I	NM_001164273.1	NP_001157745.1	Q8IWI9	MGAP_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)	15	5058	+		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)	1626			Thr-rich.		Q0VAX6|Q75ME7|Q86UM5	Missense_Mutation	SNP	ENST00000570161.1	37	c.4877C>T	CCDS55959.1	.	.	.	.	.	.	.	.	.	.	C	17.03	3.283566	0.59867	.	.	ENSG00000174197	ENST00000219905;ENST00000389936	D;D	0.84516	-1.86;-1.78	4.96	4.96	0.65561	.	1.675130	0.03485	N	0.215708	T	0.74535	0.3729	N	0.08118	0	0.80722	D	1	P;P	0.40476	0.718;0.578	B;B	0.33890	0.172;0.172	T	0.60490	-0.7253	10	0.20046	T	0.44	.	16.5776	0.84705	0.0:1.0:0.0:0.0	.	242;1626	B4DVS1;E7ENI0	.;.	I	1626	ENSP00000219905:T1626I;ENSP00000374586:T1626I	ENSP00000219905:T1626I	T	+	2	0	MGA	39822327	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.832000	0.62759	2.577000	0.86979	0.563000	0.77884	ACT		0.448	MGA-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000420229.1	NM_001164273.1		8	78	0	0	0	1	0	8	78					T	42035035	C	T	42035035	3	4	268	1	0	0	0	0	1	0	0	0	9540	565	20	3	4931	3	MGA	15	42035035	Missense_Mutation	SNP	C	TCGA-J4-A67O-01A-11D-A30E-08		42035035	60496357	20	12546											
UBN1	29855	broad.mit.edu	37	chr16	4910802	4910802	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggaggagcataagcctgttgCggtcccatcagcggaagctc	9	7	14	11	2	1	0	1	0	0	0	3	3	2	3	2	4	5	3	2	4	2	2	rs368743671	byFrequency	TCGA-J4-A67O-01A-11D-A30E-08	TCGA-J4-A67O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86a0580e-36fc-4afd-ae47-966d6b1dc108	f8e39928-9a59-4e5a-ba1e-f22910129528	g.chr16:4910802C>T	ENST00000396658.4	+	6	1512	c.809C>T	c.(808-810)gCg>gTg	p.A270V	UBN1_ENST00000262376.6_Missense_Mutation_p.A270V|UBN1_ENST00000545171.1_Missense_Mutation_p.A270V|UBN1_ENST00000585857.1_3'UTR|UBN1_ENST00000590769.1_Missense_Mutation_p.A270V	NM_016936.3	NP_058632.2	Q9NPG3	UBN1_HUMAN	ubinuclein 1	270					chromatin modification (GO:0016568)|DNA replication-independent nucleosome assembly (GO:0006336)|negative regulation of phosphatase activity (GO:0010923)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|viral process (GO:0016032)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|tight junction (GO:0005923)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(6)|kidney(4)|large_intestine(10)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38						AAGCCTGTTGCGGTCCCATCA	0.498													C|||	3	0.000599042	0	0	5008	,	,		19888	0		0	False		,,,				2504	0.0031					ENST00000396658.4																			0				NS(1)|endometrium(6)|kidney(4)|large_intestine(10)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38						c.(808-810)gCg>gTg		ubinuclein 1							128	117	121					16																	4910802		2197	4300	6497	SO:0001583	missense	29855				chromatin modification|interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter	PML body|tight junction	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr16:4910802C>T	AF108460	CCDS10525.1, CCDS73822.1	16p13.3	2010-11-09			ENSG00000118900	ENSG00000118900			12506	protein-coding gene	gene with protein product		609771				10725330	Standard	XM_005255277		Approved		uc002cyb.3	Q9NPG3	OTTHUMG00000129531	ENST00000396658.4:c.809C>T	16.37:g.4910802C>T	ENSP00000379894:p.Ala270Val					UBN1_ENST00000262376.6_Missense_Mutation_p.A270V|UBN1_ENST00000585857.1_3'UTR|UBN1_ENST00000590769.1_Missense_Mutation_p.A270V|UBN1_ENST00000545171.1_Missense_Mutation_p.A270V	p.A270V	NM_016936.3	NP_058632.2	Q9NPG3	UBN1_HUMAN			6	1512	+			270					B7Z6D3|D3DUE8|Q13079|Q9P1P7	Missense_Mutation	SNP	ENST00000396658.4	37	c.809C>T	CCDS10525.1	.	.	.	.	.	.	.	.	.	.	C	2.613	-0.290364	0.05568	.	.	ENSG00000118900	ENST00000262376;ENST00000545171;ENST00000396658	T;T;T	0.46451	1.43;0.87;1.43	5.77	-0.683	0.11335	.	0.637179	0.17167	N	0.184412	T	0.24160	0.0585	N	0.19112	0.55	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.06405	0.002;0.001	T	0.17868	-1.0355	10	0.23891	T	0.37	0.3154	11.0282	0.47757	0.0:0.4951:0.0:0.5049	.	270;270	Q9NPG3-2;Q9NPG3	.;UBN1_HUMAN	V	270	ENSP00000262376:A270V;ENSP00000442379:A270V;ENSP00000379894:A270V	ENSP00000262376:A270V	A	+	2	0	UBN1	4850803	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.028000	0.12350	-0.236000	0.09753	-1.202000	0.01658	GCG		0.498	UBN1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251719.1	NM_016936		4	113	0	0	0	1	0	4	113					T	4910802	C	T	4910802	3	4	268	1	0	0	0	0	1	0	0	0	16889	768	27	1	831	1	UBN1	16	4910802	Missense_Mutation	SNP	C	TCGA-J4-A67O-01A-11D-A30E-08		4910802	85443951	21	12547											
KLHDC4	54758	broad.mit.edu	37	chr16	87788845	87788845	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggactggggatgtcaactttGgtccaggtgtcctttctggt	5	14	14	8	0	2	0	1	0	1	0	4	2	4	2	2	6	1	0	2	6	1	2	rs374665017		TCGA-J4-A67O-01A-11D-A30E-08	TCGA-J4-A67O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86a0580e-36fc-4afd-ae47-966d6b1dc108	f8e39928-9a59-4e5a-ba1e-f22910129528	g.chr16:87788845G>T	ENST00000270583.5	-	4	382	c.324C>A	c.(322-324)acC>acA	p.T108T	KLHDC4_ENST00000353170.5_Silent_p.T51T|KLHDC4_ENST00000347925.5_Silent_p.T108T	NM_017566.3	NP_060036.2	Q8TBB5	KLDC4_HUMAN	kelch domain containing 4	108										breast(2)|endometrium(3)|lung(10)|pancreas(2)|prostate(1)|skin(1)|urinary_tract(2)	21				BRCA - Breast invasive adenocarcinoma(80;0.0283)		TGTCAACTTTGGTCCAGGTGT	0.502																																						ENST00000270583.5																			0				breast(2)|endometrium(3)|lung(10)|pancreas(2)|prostate(1)|skin(1)|urinary_tract(2)	21						c.(322-324)acC>acA		kelch domain containing 4							212	193	199					16																	87788845		2198	4300	6498	SO:0001819	synonymous_variant	54758							g.chr16:87788845G>T	AK001742	CCDS10963.1, CCDS54050.1, CCDS54051.1	16q24	2008-02-05			ENSG00000104731	ENSG00000104731			25272	protein-coding gene	gene with protein product							Standard	NM_001184854		Approved	DKFZp434G0522	uc002fki.3	Q8TBB5	OTTHUMG00000137657	ENST00000270583.5:c.324C>A	16.37:g.87788845G>T						KLHDC4_ENST00000353170.5_Silent_p.T51T|KLHDC4_ENST00000347925.5_Silent_p.T108T	p.T108T	NM_017566.3	NP_060036.2	Q8TBB5	KLDC4_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0283)	4	382	-			108					D3DUN3|D3DUN4|D3DUN5|Q96F29|Q9BVN3	Silent	SNP	ENST00000270583.5	37	c.324C>A	CCDS10963.1																																																																																				0.502	KLHDC4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000269109.2	NM_017566		10	47	1	0	3.86212e-05	1	4.06018e-05	10	47					T	87788845	G	T	87788845	2	4	268	1	0	0	0	0	0	0	0	1	8358	1335	47	5		5	KLHDC4	16	87788845	Silent	SNP	G	TCGA-J4-A67O-01A-11D-A30E-08	82878043	87788845	2565908	22	12548											
ZNF232	7775	broad.mit.edu	37	chr17	5009595	5009595	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atggatgacaaccatctgccTgaaactttcctcctgggcag	10	10	9	12	0	1	2	0	2	1	0	3	3	3	3	4	2	3	1	4	2	2	1			TCGA-J4-A67O-01A-11D-A30E-08	TCGA-J4-A67O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86a0580e-36fc-4afd-ae47-966d6b1dc108	f8e39928-9a59-4e5a-ba1e-f22910129528	g.chr17:5009595T>C	ENST00000250076.3	-	5	1513	c.859A>G	c.(859-861)Agg>Ggg	p.R287G	ZNF232_ENST00000575898.1_Missense_Mutation_p.R278G|ZNF232_ENST00000416429.2_3'UTR|ZNF232_ENST00000575538.1_5'Flank	NM_014519.2	NP_055334.2	Q9UNY5	ZN232_HUMAN	zinc finger protein 232	260					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			kidney(1)|large_intestine(2)|liver(1)|lung(4)|ovary(1)|prostate(2)	11						ACCATCTGCCTGAAACTTTCC	0.453																																						ENST00000250076.3																			0				kidney(1)|large_intestine(2)|liver(1)|lung(4)|ovary(1)|prostate(2)	11						c.(859-861)Agg>Ggg		zinc finger protein 232							99	99	99					17																	5009595		2203	4300	6503	SO:0001583	missense	7775				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr17:5009595T>C	AF080169	CCDS11068.1	17p13.2	2013-01-09			ENSG00000167840	ENSG00000167840		"-", "Zinc fingers, C2H2-type"	13026	protein-coding gene	gene with protein product						11311944	Standard	NM_014519		Approved	ZSCAN11	uc002gat.3	Q9UNY5	OTTHUMG00000099450	ENST00000250076.3:c.859A>G	17.37:g.5009595T>C	ENSP00000250076:p.Arg287Gly					ZNF232_ENST00000416429.2_3'UTR|ZNF232_ENST00000575898.1_Missense_Mutation_p.R278G	p.R287G	NM_014519.2	NP_055334.2	Q9UNY5	ZN232_HUMAN			5	1513	-			260						Missense_Mutation	SNP	ENST00000250076.3	37	c.859A>G	CCDS11068.1	.	.	.	.	.	.	.	.	.	.	T	4.296	0.054088	0.08291	.	.	ENSG00000167840	ENST00000250076	T	0.00760	5.73	2.99	0.618	0.17624	.	0.000000	0.34986	N	0.003539	T	0.00637	0.0021	L	0.37630	1.12	0.35160	D	0.770559	B;B	0.09022	0.001;0.002	B;B	0.09377	0.001;0.004	T	0.53034	-0.8495	10	0.30854	T	0.27	.	2.3312	0.04236	0.2182:0.2805:0.0:0.5013	.	260;251	Q9UNY5;Q9UNY5-2	ZN232_HUMAN;.	G	287	ENSP00000250076:R287G	ENSP00000250076:R287G	R	-	1	2	ZNF232	4950319	0.027000	0.19231	0.027000	0.17364	0.214000	0.24535	0.091000	0.15046	0.080000	0.16959	0.533000	0.62120	AGG		0.453	ZNF232-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216915.1	NM_014519		4	111	0	0	0	1	0	4	111					C	5009595	T	C	5009595	3	2	268	1	0	0	0	0	1	0	0	0	17782	1579	55	4	479	4	ZNF232	17	5009595	Missense_Mutation	SNP	T	TCGA-J4-A67O-01A-11D-A30E-08		5009595	76185615	23	12549											
RNF213	57674	broad.mit.edu	37	chr17	78328255	78328255	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gtacagcctctttcttgcggGtatccaagatgcgcctcagt	7	12	10	12	2	3	1	1	0	2	1	4	1	4	1	3	1	4	2	3	1	3	4			TCGA-J4-A67O-01A-11D-A30E-08	TCGA-J4-A67O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86a0580e-36fc-4afd-ae47-966d6b1dc108	f8e39928-9a59-4e5a-ba1e-f22910129528	g.chr17:78328255G>A	ENST00000582970.1	+	36	10884	c.10741G>A	c.(10741-10743)Gta>Ata	p.V3581I	CTD-2047H16.4_ENST00000575034.1_RNA|RNF213_ENST00000336301.6_Missense_Mutation_p.V1654I|CTD-2047H16.4_ENST00000572151.1_RNA|RNF213_ENST00000508628.2_Missense_Mutation_p.V3630I	NM_001256071.1	NP_001243000.1	Q63HN8	RN213_HUMAN	ring finger protein 213	3581					ATP catabolic process (GO:0006200)|protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATPase activity (GO:0016887)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			TTTCTTGCGGGTATCCAAGAT	0.552																																						ENST00000582970.1																			0				NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130						c.(10741-10743)Gta>Ata		ring finger protein 213							98	91	94					17																	78328255		2203	4300	6503	SO:0001583	missense	57674							g.chr17:78328255G>A	AK074030	CCDS58606.1	17q25.3	2013-01-09	2007-02-08	2007-02-08		ENSG00000173821		"RING-type (C3HC4) zinc fingers"	14539	protein-coding gene	gene with protein product		613768	"chromosome 17 open reading frame 27", "KIAA1618", "moyamoya disease 2", "Moyamoya disease 2"	C17orf27, KIAA1618, MYMY2		10997877, 21048783, 21799892	Standard	NM_020954		Approved	KIAA1554, NET57	uc021uen.2	Q63HN8		ENST00000582970.1:c.10741G>A	17.37:g.78328255G>A	ENSP00000464087:p.Val3581Ile					CTD-2047H16.4_ENST00000575034.1_RNA|CTD-2047H16.4_ENST00000572151.1_RNA|RNF213_ENST00000508628.2_Missense_Mutation_p.V3630I|RNF213_ENST00000336301.6_Missense_Mutation_p.V1654I	p.V3581I	NM_001256071.1	NP_001243000.1	Q9HCF4	ALO17_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)		36	10884	+	all_neural(118;0.0538)		0					C9JCP4|D6RI12|F8WKS1|Q658P6|Q69YK7|Q6MZR1|Q8IWF4|Q8IZX1|Q8IZX2|Q8N406|Q8TEU0|Q9H6C9|Q9H6H9|Q9H6P3|Q9H8A9|Q9HCF4|Q9HCL8	Missense_Mutation	SNP	ENST00000582970.1	37	c.10741G>A	CCDS58606.1	.	.	.	.	.	.	.	.	.	.	G	5.882	0.346833	0.11126	.	.	ENSG00000173821	ENST00000508628;ENST00000411702;ENST00000336301	T	0.23348	1.91	4.93	1.8	0.24995	.	0.533866	0.20025	N	0.100833	T	0.21103	0.0508	M	0.62723	1.935	0.09310	N	1	B;B	0.22146	0.018;0.065	B;B	0.16722	0.016;0.015	T	0.26985	-1.0087	10	0.13853	T	0.58	.	7.7552	0.28919	0.4727:0.0:0.5273:0.0	.	3630;1654	C9JCP4;Q63HN8	.;RN213_HUMAN	I	3581;3630;1654	ENSP00000338218:V1654I	ENSP00000338218:V1654I	V	+	1	0	RNF213	75942850	0.142000	0.22610	0.014000	0.15608	0.252000	0.25951	1.379000	0.34340	0.503000	0.28060	0.650000	0.86243	GTA		0.552	RNF213-020	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000443298.1	NM_020914		11	96	0	0	0	1	0	11	96					A	78328255	G	A	78328255	3	1	268	1	0	0	0	0	1	0	0	0	13477	1261	44	3	11198	3	RNF213	17	78328255	Missense_Mutation	SNP	G	TCGA-J4-A67O-01A-11D-A30E-08	73318660	78328255	2866955	24	12550											
CACNA1A	773	broad.mit.edu	37	chr19	13441098	13441098	+	Frame_Shift_Del	DEL	G	G	-																															agctgatcctcagcctcttcGgggttgagcaaatctgtctt																								rs376451601		TCGA-J4-A67O-01A-11D-A30E-08	TCGA-J4-A67O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86a0580e-36fc-4afd-ae47-966d6b1dc108	f8e39928-9a59-4e5a-ba1e-f22910129528	g.chr19:13441098delG	ENST00000360228.5	-	10	1304	c.1305delC	c.(1303-1305)cccfs	p.P435fs	CACNA1A_ENST00000573710.2_Frame_Shift_Del_p.P436fs	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	436					adult walking behavior (GO:0007628)|behavioral response to pain (GO:0048266)|calcium ion import (GO:0070509)|calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cell death (GO:0008219)|cell growth (GO:0016049)|cellular chloride ion homeostasis (GO:0030644)|cerebellar molecular layer development (GO:0021679)|cerebellar Purkinje cell differentiation (GO:0021702)|cerebellum maturation (GO:0021590)|dendrite morphogenesis (GO:0048813)|energy reserve metabolic process (GO:0006112)|gamma-aminobutyric acid secretion (GO:0014051)|gamma-aminobutyric acid signaling pathway (GO:0007214)|glucose metabolic process (GO:0006006)|hormone metabolic process (GO:0042445)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|musculoskeletal movement, spinal reflex action (GO:0050883)|negative regulation of hormone biosynthetic process (GO:0032353)|negative regulation of neuron apoptotic process (GO:0043524)|neuromuscular process controlling balance (GO:0050885)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter metabolic process (GO:0042133)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|receptor clustering (GO:0043113)|regulation of acetylcholine secretion, neurotransmission (GO:0014056)|regulation of axonogenesis (GO:0050770)|regulation of calcium ion-dependent exocytosis (GO:0017158)|regulation of insulin secretion (GO:0050796)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|spinal cord motor neuron differentiation (GO:0021522)|sulfur amino acid metabolic process (GO:0000096)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transmission of nerve impulse (GO:0019226)|vestibular nucleus development (GO:0021750)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|syntaxin binding (GO:0019905)|voltage-gated calcium channel activity (GO:0005245)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Loperamide(DB00836)|Pregabalin(DB00230)|Spironolactone(DB00421)|Verapamil(DB00661)	CAGCCTCTTCGGGGTTGAGCA	0.488																																						ENST00000360228.5																			0				breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42						c.(1303-1305)ccfs		calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)						81	81	81					19																	13441098		1895	4121	6016	SO:0001589	frameshift_variant	773				cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding	g.chr19:13441098delG	U79666	CCDS45998.1, CCDS45999.1	19p13	2014-09-17			ENSG00000141837	ENSG00000141837		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1388	protein-coding gene	gene with protein product		601011		CACNL1A4, SCA6, MHP1, MHP		8825650, 16382099, 23827678	Standard	NM_000068		Approved	Cav2.1, EA2, APCA, HPCA, FHM	uc010xne.2	O00555	OTTHUMG00000044590	ENST00000360228.5:c.1305delC	19.37:g.13441098delG	ENSP00000353362:p.Pro435fs					CACNA1A_ENST00000573710.2_Frame_Shift_Del_p.P436fs	p.P435fs	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		10	1304	-			436					J3KP41|P78510|P78511|Q16290|Q92690|Q99790|Q99791|Q99792|Q99793|Q9NS88|Q9UDC4	Frame_Shift_Del	DEL	ENST00000360228.5	37	c.1305delC	CCDS45998.1																																																																																				0.488	CACNA1A-001	KNOWN	non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000104062.2	NM_000068		2	4						2	4	---	---	---	---	-	13441098	G	-	13441098	7	5	268	1	0	1	0	1	0	0	0	0	2538	1103	39	0	6478	0	CACNA1A	19	13441098	Frame_Shift_Del	DEL	G	TCGA-J4-A67O-01A-11D-A30E-08		13441098	45687885	25	12551											
PRIC285	85441	broad.mit.edu	37	chr20	62196338	62196338	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acctcccggacgatgcccagCgggtagtagaagccttgccg	8	6	13	14	4	0	1	0	0	0	1	1	3	1	2	5	2	4	2	5	2	3	3			TCGA-J4-A67O-01A-11D-A30E-08	TCGA-J4-A67O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86a0580e-36fc-4afd-ae47-966d6b1dc108	f8e39928-9a59-4e5a-ba1e-f22910129528	g.chr20:62196338C>T	ENST00000467148.1	-	8	3906	c.3837G>A	c.(3835-3837)ccG>ccA	p.P1279P	HELZ2_ENST00000427522.2_Silent_p.P710P	NM_001037335.2	NP_001032412.2	Q9BYK8	HELZ2_HUMAN	helicase with zinc finger 2, transcriptional coactivator	1279					cellular lipid metabolic process (GO:0044255)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	membrane (GO:0016020)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)										CGATGCCCAGCGGGTAGTAGA	0.687																																						ENST00000467148.1																			0											c.(3835-3837)ccG>ccA		helicase with zinc finger 2, transcriptional coactivator							13	16	15					20																	62196338		2176	4289	6465	SO:0001819	synonymous_variant	85441							g.chr20:62196338C>T	AB201715	CCDS13527.1, CCDS33508.1	20q13.33	2012-09-26			ENSG00000130589	ENSG00000130589			30021	protein-coding gene	gene with protein product	"peroxisomal proliferator activated receptor A interacting complex 285", "PPARG-DBD-interacting protein 1"	611265				11214970, 12189208, 16239304	Standard	NM_001037335		Approved	PDIP1, PRIC285, KIAA1769	uc002yfm.2	Q9BYK8	OTTHUMG00000032969	ENST00000467148.1:c.3837G>A	20.37:g.62196338C>T						HELZ2_ENST00000427522.2_Silent_p.P710P	p.P1279P	NM_001037335.2	NP_001032412.2					8	3906	-								Q3C2G2|Q4VXQ1|Q8TEF3|Q96ND3|Q9C094	Silent	SNP	ENST00000467148.1	37	c.3837G>A	CCDS33508.1																																																																																				0.687	HELZ2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354127.1	NM_001037335		3	28	0	0	0	1	0	3	28					T	62196338	C	T	62196338	2	4	268	1	0	0	0	0	0	0	0	1	12485	755	27	1		1	PRIC285	20	62196338	Silent	SNP	C	TCGA-J4-A67O-01A-11D-A30E-08		62196338	829182	26	12552											
L1CAM	3897	broad.mit.edu	37	chrX	153136389	153136389	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gttctggcccatcgtcacccGctcgtcctgcttgatgtgca	4	12	10	15	3	2	1	1	1	1	0	5	1	3	1	3	1	2	4	3	1	0	2			TCGA-J4-A67O-01A-11D-A30E-08	TCGA-J4-A67O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86a0580e-36fc-4afd-ae47-966d6b1dc108	f8e39928-9a59-4e5a-ba1e-f22910129528	g.chrX:153136389G>A	ENST00000370060.1	-	7	739	c.550C>T	c.(550-552)Cgg>Tgg	p.R184W	L1CAM_ENST00000538883.1_Missense_Mutation_p.R186W|L1CAM_ENST00000370057.3_Missense_Mutation_p.R184W|L1CAM_ENST00000361981.3_Missense_Mutation_p.R179W|L1CAM_ENST00000543994.1_Missense_Mutation_p.R186W|L1CAM_ENST00000370055.1_Missense_Mutation_p.R179W|L1CAM_ENST00000361699.4_Missense_Mutation_p.R184W	NM_001278116.1	NP_001265045.1	P32004	L1CAM_HUMAN	L1 cell adhesion molecule	184	Ig-like C2-type 2.		R -> Q (in HSAS; severe). {ECO:0000269|PubMed:7920659, ECO:0000269|PubMed:8556302, ECO:0000269|PubMed:9195224}.|R -> W (in HSAS). {ECO:0000269|PubMed:10797421}.		axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell death (GO:0008219)|cell surface receptor signaling pathway (GO:0007166)|cell-cell adhesion mediated by integrin (GO:0033631)|chemotaxis (GO:0006935)|heterophilic cell-cell adhesion (GO:0007157)|homophilic cell adhesion (GO:0007156)|homotypic cell-cell adhesion (GO:0034109)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|nervous system development (GO:0007399)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of cell-cell adhesion (GO:0022409)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	sialic acid binding (GO:0033691)			NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	81	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					ATCGTCACCCGCTCGTCCTGC	0.612																																						ENST00000370060.1																			0				NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	81	GRCh37	CM064090|CM960913	L1CAM	M		c.(550-552)Cgg>Tgg		L1 cell adhesion molecule							199	139	159					X																	153136389		2203	4300	6503	SO:0001583	missense	3897				axon guidance|blood coagulation|cell death|leukocyte migration	integral to membrane		g.chrX:153136389G>A	M74387	CCDS14733.1, CCDS14734.1, CCDS48192.1	Xq28	2014-09-17	2003-04-07		ENSG00000198910	ENSG00000198910		"CD molecules", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	6470	protein-coding gene	gene with protein product		308840	"antigen identified by monoclonal antibody R1"	HSAS1, SPG1, HSAS, MASA, MIC5, S10			Standard	NM_001278116		Approved	CD171	uc031tks.1	P32004	OTTHUMG00000024221	ENST00000370060.1:c.550C>T	X.37:g.153136389G>A	ENSP00000359077:p.Arg184Trp					L1CAM_ENST00000361699.4_Missense_Mutation_p.R184W|L1CAM_ENST00000370057.3_Missense_Mutation_p.R184W|L1CAM_ENST00000370055.1_Missense_Mutation_p.R179W|L1CAM_ENST00000361981.3_Missense_Mutation_p.R179W|L1CAM_ENST00000543994.1_Missense_Mutation_p.R186W|L1CAM_ENST00000538883.1_Missense_Mutation_p.R186W	p.R184W	NM_001278116.1	NP_001265045.1	P32004	L1CAM_HUMAN			7	739	-	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		184		R -> Q (in HSAS; severe).|R -> W (in HSAS).	Ig-like C2-type 2.		A0AV65|A4ZYW4|B2RMU7|G3XAF4|Q8TA87	Missense_Mutation	SNP	ENST00000370060.1	37	c.550C>T	CCDS14733.1	.	.	.	.	.	.	.	.	.	.	G	19.40	3.819448	0.71028	.	.	ENSG00000198910	ENST00000370060;ENST00000543994;ENST00000370057;ENST00000538883;ENST00000361981;ENST00000540065;ENST00000370055;ENST00000361699	D;D;D;D;D;D;D	0.82081	-1.57;-1.57;-1.57;-1.57;-1.57;-1.57;-1.57	4.57	3.69	0.42338	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.56097	D	0.000035	D	0.93044	0.7786	H	0.95224	3.64	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.992;1.0	D	0.94038	0.7307	10	0.87932	D	0	.	12.2438	0.54558	0.0:0.0:0.8283:0.1716	.	179;184;184	G3XAF4;P32004-2;P32004	.;.;L1CAM_HUMAN	W	184;186;184;186;179;54;179;184	ENSP00000359077:R184W;ENSP00000438430:R186W;ENSP00000359074:R184W;ENSP00000439645:R186W;ENSP00000354712:R179W;ENSP00000359072:R179W;ENSP00000355380:R184W	ENSP00000355380:R184W	R	-	1	2	L1CAM	152789583	0.989000	0.36119	0.999000	0.59377	0.622000	0.37654	1.997000	0.40786	1.029000	0.39812	0.436000	0.28706	CGG		0.612	L1CAM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000061094.2	NM_024003		16	74	0	0	0	1	0	16	74					A	153136389	G	A	153136389	3	1	268	1	0	0	0	0	1	0	0	0	8588	1086	38	1	3315	1	L1CAM	23	153136389	Missense_Mutation	SNP	G	TCGA-J4-A67O-01A-11D-A30E-08		153136389	2134171	27	12553											
COL16A1	1307	broad.mit.edu	37	chr1	32120919	32120919	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	cagccttcccccttaccatgGagccaggcacaccaggcaag	10	5	9	17	0	0	0	0	0	0	0	1	1	1	1	6	3	3	2	6	3	2	2			TCGA-J4-A67Q-01A-21D-A30E-08	TCGA-J4-A67Q-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	282f9df5-390b-4f67-a898-44746b337dc6	59ffc3d4-1659-40c8-89fe-d48475608509	g.chr1:32120919G>A	ENST00000373672.3	-	67	4802	c.4286C>T	c.(4285-4287)tCc>tTc	p.S1429F	RP11-73M7.6_ENST00000609033.1_RNA|RP11-73M7.6_ENST00000609549.1_RNA|RP11-73M7.6_ENST00000445166.1_RNA|RP11-73M7.6_ENST00000587445.1_RNA|RP11-73M7.6_ENST00000589462.1_RNA|RP11-73M7.6_ENST00000608332.1_RNA|RP11-73M7.6_ENST00000609625.1_RNA|RP11-73M7.6_ENST00000607926.1_RNA|COL16A1_ENST00000271069.6_Missense_Mutation_p.S1429F|RP11-73M7.6_ENST00000591592.1_RNA|RP11-73M7.6_ENST00000588288.1_RNA|RP11-73M7.6_ENST00000585413.1_RNA|RP11-73M7.6_ENST00000608246.1_RNA|RP11-73M7.6_ENST00000610043.1_RNA|COL16A1_ENST00000461217.1_5'UTR|RP11-73M7.6_ENST00000591929.1_RNA|RP11-73M7.6_ENST00000608888.1_RNA|RP11-73M7.6_ENST00000609338.1_RNA|RP11-73M7.6_ENST00000585660.1_RNA|RP11-73M7.6_ENST00000609373.1_RNA|RP11-73M7.6_ENST00000593188.1_RNA|RP11-73M7.6_ENST00000610216.1_RNA	NM_001856.3	NP_001847.3	Q07092	COGA1_HUMAN	collagen, type XVI, alpha 1	1429	Triple-helical region 2 (COL2) with 2 imperfections.				cell adhesion (GO:0007155)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|female pregnancy (GO:0007565)|integrin-mediated signaling pathway (GO:0007229)	collagen type XVI trimer (GO:0005597)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	integrin binding (GO:0005178)			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(15)|ovary(8)|prostate(4)	48		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0423)|all_neural(195;0.0837)|Breast(348;0.116)		STAD - Stomach adenocarcinoma(196;0.059)		CCTTACCATGGAGCCAGGCAC	0.652																																					Colon(143;498 1786 21362 25193 36625)	ENST00000373672.3																			0				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(15)|ovary(8)|prostate(4)	48						c.(4285-4287)tCc>tTc		collagen, type XVI, alpha 1							28	32	31					1																	32120919		1986	4152	6138	SO:0001583	missense	1307				cell adhesion|female pregnancy|integrin-mediated signaling pathway	collagen type XVI	integrin binding|structural molecule activity	g.chr1:32120919G>A	M92642	CCDS41297.1	1p35-p34	2013-01-16			ENSG00000084636	ENSG00000084636		"Collagens"	2193	protein-coding gene	gene with protein product		120326				1631157	Standard	NM_001856		Approved		uc001btk.1	Q07092	OTTHUMG00000003883	ENST00000373672.3:c.4286C>T	1.37:g.32120919G>A	ENSP00000362776:p.Ser1429Phe					RP11-73M7.6_ENST00000593188.1_RNA|RP11-73M7.6_ENST00000591929.1_RNA|RP11-73M7.6_ENST00000587445.1_RNA|COL16A1_ENST00000461217.1_5'UTR|RP11-73M7.6_ENST00000585660.1_RNA|RP11-73M7.6_ENST00000585413.1_RNA|COL16A1_ENST00000271069.6_Missense_Mutation_p.S1429F|RP11-73M7.6_ENST00000591592.1_RNA|RP11-73M7.6_ENST00000589462.1_RNA	p.S1429F	NM_001856.3	NP_001847.3	Q07092	COGA1_HUMAN		STAD - Stomach adenocarcinoma(196;0.059)	67	4802	-		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0423)|all_neural(195;0.0837)|Breast(348;0.116)	1429			Triple-helical region 2 (COL2) with 2 imperfections.		Q16593|Q59F89|Q71RG9	Missense_Mutation	SNP	ENST00000373672.3	37	c.4286C>T	CCDS41297.1	.	.	.	.	.	.	.	.	.	.	G	16.27	3.075286	0.55646	.	.	ENSG00000084636	ENST00000373672;ENST00000271069	D;D	0.90261	-2.63;-2.64	5.07	5.07	0.68467	.	0.141236	0.46145	D	0.000314	D	0.90225	0.6944	L	0.38175	1.15	0.38954	D	0.958403	P;P	0.52061	0.917;0.95	P;P	0.53809	0.548;0.735	D	0.89979	0.4099	10	0.35671	T	0.21	.	15.7158	0.77667	0.0:0.0:1.0:0.0	.	1429;1427	Q07092;Q07092-2	COGA1_HUMAN;.	F	1429	ENSP00000362776:S1429F;ENSP00000271069:S1429F	ENSP00000271069:S1429F	S	-	2	0	COL16A1	31893506	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	3.839000	0.55835	2.522000	0.85027	0.561000	0.74099	TCC		0.652	COL16A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011057.2	NM_001856		11	62	0	0	0	1	0	11	62					A	32120919	G	A	32120919	3	1	269	1	0	0	0	0	1	0	0	0	3673	1174	41	3	548	3	COL16A1	1	32120919	Missense_Mutation	SNP	G	TCGA-J4-A67Q-01A-21D-A30E-08		32120919	217129702	1	12554											
CCDC76	54482	broad.mit.edu	37	chr1	100609646	100609646	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caagattcctgtgctaagagAagaaaaactacctgtggtag	15	9	10	7	0	0	3	0	0	0	3	1	4	1	3	2	1	3	2	2	1	7	4			TCGA-J4-A67Q-01A-21D-A30E-08	TCGA-J4-A67Q-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	282f9df5-390b-4f67-a898-44746b337dc6	59ffc3d4-1659-40c8-89fe-d48475608509	g.chr1:100609646A>C	ENST00000370141.2	+	9	770	c.764A>C	c.(763-765)gAa>gCa	p.E255A	TRMT13_ENST00000493651.1_3'UTR	NM_019083.2	NP_061956.2	Q9NUP7	TRM13_HUMAN	tRNA methyltransferase 13 homolog (S. cerevisiae)	255					tRNA processing (GO:0008033)		metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)										GTGCTAAGAGAAGAAAAACTA	0.338																																						ENST00000370141.2																			0											c.(763-765)gAa>gCa		tRNA methyltransferase 13 homolog (S. cerevisiae)							94	91	92					1																	100609646		2203	4300	6503	SO:0001583	missense	54482							g.chr1:100609646A>C	BC075811	CCDS765.1	1p21.2	2012-06-07	2012-06-07	2012-06-07	ENSG00000122435	ENSG00000122435			25502	protein-coding gene	gene with protein product			"coiled-coil domain containing 76"	CCDC76		11799066	Standard	NM_019083		Approved	FLJ10287, FLJ11219	uc001dsv.3	Q9NUP7	OTTHUMG00000010841	ENST00000370141.2:c.764A>C	1.37:g.100609646A>C	ENSP00000359160:p.Glu255Ala					TRMT13_ENST00000493651.1_3'UTR	p.E255A	NM_019083.2	NP_061956.2					9	770	+								Q5VVL0|Q9NW65	Missense_Mutation	SNP	ENST00000370141.2	37	c.764A>C	CCDS765.1	.	.	.	.	.	.	.	.	.	.	A	12.71	2.019509	0.35606	.	.	ENSG00000122435	ENST00000370141	T	0.43688	0.94	5.77	4.64	0.57946	Methyltransferase TRM13 (1);	0.498441	0.24126	N	0.041310	T	0.13884	0.0336	L	0.31664	0.95	0.80722	D	1	B;B	0.22983	0.042;0.078	B;B	0.26969	0.055;0.075	T	0.05903	-1.0857	10	0.11485	T	0.65	-9.491	11.6928	0.51525	0.9311:0.0:0.0689:0.0	.	241;255	B4DQS9;Q9NUP7	.;TRM13_HUMAN	A	255	ENSP00000359160:E255A	ENSP00000359160:E255A	E	+	2	0	CCDC76	100382234	1.000000	0.71417	1.000000	0.80357	0.520000	0.34377	5.406000	0.66357	1.013000	0.39391	0.533000	0.62120	GAA		0.338	TRMT13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029919.1	NM_019083		3	36	0	0	0	1	0	3	36					C	100609646	A	C	100609646	3	2	269	1	0	0	0	0	1	0	0	0	2850	246	9	5	798	5	CCDC76	1	100609646	Missense_Mutation	SNP	A	TCGA-J4-A67Q-01A-21D-A30E-08	68488727	100609646	148640975	2	12555											
NFASC	23114	broad.mit.edu	37	chr1	204951036	204951036	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acagtgtggggctctcgctaCgtggtggggcagaccccagt	6	8	16	11	2	1	1	0	0	1	1	2	1	1	1	2	5	1	3	2	5	1	1			TCGA-J4-A67Q-01A-21D-A30E-08	TCGA-J4-A67Q-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	282f9df5-390b-4f67-a898-44746b337dc6	59ffc3d4-1659-40c8-89fe-d48475608509	g.chr1:204951036C>T	ENST00000401399.1	+	20	2557	c.2358C>T	c.(2356-2358)taC>taT	p.Y786Y	NFASC_ENST00000360049.4_Silent_p.Y782Y|NFASC_ENST00000367169.4_Silent_p.Y786Y|NFASC_ENST00000367170.4_Silent_p.Y786Y|NFASC_ENST00000339876.6_Silent_p.Y786Y|NFASC_ENST00000404076.1_Silent_p.Y765Y|NFASC_ENST00000338586.6_Silent_p.Y786Y|NFASC_ENST00000367171.4_Silent_p.Y771Y|NFASC_ENST00000513543.1_Silent_p.Y782Y|NFASC_ENST00000367172.4_Silent_p.Y786Y|NFASC_ENST00000539706.1_Silent_p.Y782Y|NFASC_ENST00000338515.6_Silent_p.Y786Y|NFASC_ENST00000404907.1_Silent_p.Y782Y			O94856	NFASC_HUMAN	neurofascin	786	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|clustering of voltage-gated sodium channels (GO:0045162)|heterotypic cell-cell adhesion (GO:0034113)|myelination (GO:0042552)|paranodal junction assembly (GO:0030913)|peripheral nervous system development (GO:0007422)|protein localization to juxtaparanode region of axon (GO:0071205)|protein localization to paranode region of axon (GO:0002175)|synapse organization (GO:0050808)|transmission of nerve impulse (GO:0019226)	axon initial segment (GO:0043194)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|node of Ranvier (GO:0033268)|paranodal junction (GO:0033010)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)				NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	81	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			GCTCTCGCTACGTGGTGGGGC	0.602																																						ENST00000367172.4																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	81						c.(2356-2358)taC>taT		neurofascin							89	73	79					1																	204951036		2203	4300	6503	SO:0001819	synonymous_variant	23114				axon guidance|cell adhesion|myelination|peripheral nervous system development	integral to membrane|node of Ranvier|plasma membrane	protein binding	g.chr1:204951036C>T	AK027553	CCDS30982.1, CCDS53460.1, CCDS53461.1, CCDS53462.1	1q32.1	2013-02-11	2010-06-24		ENSG00000163531	ENSG00000163531		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	29866	protein-coding gene	gene with protein product		609145	"neurofascin homolog (chicken)"			1377696, 8672144	Standard	NM_015090		Approved	NRCAML, KIAA0756, FLJ46866, NF	uc001hbj.3	O94856	OTTHUMG00000151697	ENST00000401399.1:c.2358C>T	1.37:g.204951036C>T						NFASC_ENST00000367171.4_Silent_p.Y771Y|NFASC_ENST00000338515.6_Silent_p.Y786Y|NFASC_ENST00000513543.1_Silent_p.Y782Y|NFASC_ENST00000367169.4_Silent_p.Y786Y|NFASC_ENST00000339876.6_Silent_p.Y786Y|NFASC_ENST00000539706.1_Silent_p.Y782Y|NFASC_ENST00000404076.1_Silent_p.Y765Y|NFASC_ENST00000360049.4_Silent_p.Y782Y|NFASC_ENST00000401399.1_Silent_p.Y786Y|NFASC_ENST00000338586.6_Silent_p.Y786Y|NFASC_ENST00000404907.1_Silent_p.Y782Y|NFASC_ENST00000367170.4_Silent_p.Y786Y	p.Y786Y			O94856	NFASC_HUMAN	KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)		21	2686	+	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		786			Fibronectin type-III 2.		B2RNN8|B3KQZ1|B5MDP6|B5MDR6|B7ZMD8|Q149P5|Q5T2F0|Q5T2F1|Q5T2F2|Q5T2F3|Q5T2F4|Q5T2F5|Q5T2F6|Q5T2F7|Q5T2F9|Q5T2G0|Q5W9F8|Q68DH3|Q6ZQV6|Q7Z3K1|Q96HT1|Q96K50	Silent	SNP	ENST00000401399.1	37	c.2358C>T	CCDS53460.1	.	.	.	.	.	.	.	.	.	.	C	10.48	1.361415	0.24684	.	.	ENSG00000163531	ENST00000367173;ENST00000425360	.	.	.	5.55	-4.84	0.03151	.	.	.	.	.	T	0.62816	0.2459	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.63883	-0.6536	4	.	.	.	.	14.378	0.66892	0.0:0.4011:0.0:0.5989	.	.	.	.	M	756;18	.	.	T	+	2	0	NFASC	203217659	0.001000	0.12720	0.918000	0.36340	0.997000	0.91878	-1.323000	0.02692	-0.793000	0.04475	0.563000	0.77884	ACG		0.602	NFASC-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000131237.1	NM_001005388		12	50	0	0	0	1	0	12	50					T	204951036	C	T	204951036	2	4	269	1	0	0	0	0	0	0	0	1	10359	547	19	1		1	NFASC	1	204951036	Silent	SNP	C	TCGA-J4-A67Q-01A-21D-A30E-08	104341390	204951036	44299585	3	12556											
RYBP	23429	broad.mit.edu	37	chr3	72427735	72427735	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taatgacggtgacgttgcccAcagttactgccaactgctgt	9	11	10	11	2	0	2	0	2	0	0	0	2	0	2	2	1	5	3	2	1	3	3			TCGA-J4-A67Q-01A-21D-A30E-08	TCGA-J4-A67Q-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	282f9df5-390b-4f67-a898-44746b337dc6	59ffc3d4-1659-40c8-89fe-d48475608509	g.chr3:72427735A>C	ENST00000477973.2	-	4	752	c.753T>G	c.(751-753)tgT>tgG	p.C251W		NM_012234.5	NP_036366.3	Q8N488	RYBP_HUMAN	RING1 and YY1 binding protein	0					apoptotic process (GO:0006915)|histone H2A monoubiquitination (GO:0035518)|multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			prostate(1)|upper_aerodigestive_tract(1)	2		Prostate(10;0.00174)|Lung NSC(201;0.0659)|Myeloproliferative disorder(1037;0.204)		BRCA - Breast invasive adenocarcinoma(55;0.000197)|Epithelial(33;0.00068)|LUSC - Lung squamous cell carcinoma(21;0.00228)|Lung(16;0.00677)|KIRC - Kidney renal clear cell carcinoma(39;0.198)|Kidney(39;0.232)		GACGTTGCCCACAGTTACTGC	0.512																																						ENST00000477973.1																			0				prostate(1)|upper_aerodigestive_tract(1)	2						c.(751-753)tgT>tgG		RING1 and YY1 binding protein							125	120	122					3																	72427735		2100	4204	6304	SO:0001583	missense	23429				apoptosis|histone H2A monoubiquitination|multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleoplasm	DNA binding|protein binding|transcription corepressor activity|zinc ion binding	g.chr3:72427735A>C	AF179286		3p14.2	2008-07-18			ENSG00000163602	ENSG00000163602			10480	protein-coding gene	gene with protein product	"YY1 and E4TF1 associated factor 1", "ring1 interactor RYBP", "apoptin-associating protein 1", "death effector domain-associated factor"	607535				10369680	Standard	NM_012234		Approved	YEAF1, AAP1, DEDAF	uc003dpe.3	Q8N488	OTTHUMG00000159190	ENST00000477973.2:c.753T>G	3.37:g.72427735A>C	ENSP00000419494:p.Cys251Trp						p.C251W	NM_012234.5	NP_036366.3	Q8N488	RYBP_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000197)|Epithelial(33;0.00068)|LUSC - Lung squamous cell carcinoma(21;0.00228)|Lung(16;0.00677)|KIRC - Kidney renal clear cell carcinoma(39;0.198)|Kidney(39;0.232)	4	752	-		Prostate(10;0.00174)|Lung NSC(201;0.0659)|Myeloproliferative disorder(1037;0.204)	0					Q9P2W5|Q9UMW4	Missense_Mutation	SNP	ENST00000477973.2	37	c.753T>G		.	.	.	.	.	.	.	.	.	.	A	18.17	3.565339	0.65651	.	.	ENSG00000163602	ENST00000477973	.	.	.	5.86	4.7	0.59300	.	.	.	.	.	T	0.69486	0.3116	M	0.77486	2.375	.	.	.	.	.	.	.	.	.	T	0.77075	-0.2722	4	.	.	.	-22.1114	12.6901	0.56970	0.8763:0.0:0.0:0.1237	.	.	.	.	W	251	.	.	C	-	3	2	RYBP	72510425	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.287000	0.95975	1.131000	0.42111	0.528000	0.53228	TGT		0.512	RYBP-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000353762.3	NM_012234		8	83	0	0	0	1	0	8	83					C	72427735	A	C	72427735	3	2	269	1	0	0	0	0	1	0	0	0	13766	159	6	5	202	5	RYBP	3	72427735	Missense_Mutation	SNP	A	TCGA-J4-A67Q-01A-21D-A30E-08		72427735	125594695	4	12557											
HNRNPAB	85007	broad.mit.edu	37	chr5	177636394	177636394	+	Intron	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agcagtatggctctgggggcCgtggaaaccgcaaccgaggg	9	5	17	10	3	1	0	0	0	1	0	1	2	1	1	3	5	3	4	3	5	3	1			TCGA-J4-A67Q-01A-21D-A30E-08	TCGA-J4-A67Q-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	282f9df5-390b-4f67-a898-44746b337dc6	59ffc3d4-1659-40c8-89fe-d48475608509	g.chr5:177636394C>T	ENST00000308158.5	-	13	1619				HNRNPAB_ENST00000506339.1_Missense_Mutation_p.R245C|HNRNPAB_ENST00000504898.1_Missense_Mutation_p.R245C|HNRNPAB_ENST00000506259.1_Missense_Mutation_p.R245C|HNRNPAB_ENST00000358344.3_Missense_Mutation_p.R245C|HNRNPAB_ENST00000514633.1_Missense_Mutation_p.R245C|HNRNPAB_ENST00000355836.5_Missense_Mutation_p.R245C|PHYKPL_ENST00000481811.1_Intron|HNRNPAB_ENST00000515193.1_Missense_Mutation_p.R245C	NM_153373.2	NP_699204.1	Q8IUZ5	AT2L2_HUMAN	5-phosphohydroxy-L-lysine phospho-lyase							mitochondrion (GO:0005739)	lyase activity (GO:0016829)|pyridoxal phosphate binding (GO:0030170)|transaminase activity (GO:0008483)									L-Alanine(DB00160)	CTCTGGGGGCCGTGGAAACCG	0.572																																						ENST00000358344.3																			0				large_intestine(4)|prostate(1)|urinary_tract(1)	6						c.(733-735)Cgt>Tgt		heterogeneous nuclear ribonucleoprotein A/B							86	79	81					5																	177636394		2203	4300	6503	SO:0001627	intron_variant	3182				epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|ribonucleoprotein complex	mRNA binding|nucleotide binding|protein binding	g.chr5:177636394C>T	BC037567	CCDS4434.1	5q35.3	2013-06-12	2013-06-12	2013-06-12	ENSG00000175309	ENSG00000175309	4.2.3.134		28249	protein-coding gene	gene with protein product	"5-phosphonooxy-L-lysine phospho-lyase"	614683	"alanine-glyoxylate aminotransferase 2-like 2"	AGXT2L2		22241472	Standard	NM_153373		Approved	MGC15875	uc003miz.3	Q8IUZ5	OTTHUMG00000130892	ENST00000308158.5:c.1351-478G>A	5.37:g.177636394C>T						HNRNPAB_ENST00000506339.1_Missense_Mutation_p.R245C|HNRNPAB_ENST00000515193.1_Missense_Mutation_p.R245C|PHYKPL_ENST00000481811.1_Intron|HNRNPAB_ENST00000504898.1_Missense_Mutation_p.R245C|HNRNPAB_ENST00000514633.1_Missense_Mutation_p.R245C|PHYKPL_ENST00000308158.5_Intron|HNRNPAB_ENST00000355836.5_Missense_Mutation_p.R245C|HNRNPAB_ENST00000506259.1_Missense_Mutation_p.R245C	p.R245C	NM_031266.2	NP_112556.2	Q99729	ROAA_HUMAN			6	990	+			245			Gly-rich.		A8K7P6|B3KN36|D3DWP9|Q8WYS6|Q96HW8	Missense_Mutation	SNP	ENST00000308158.5	37	c.733C>T	CCDS4434.1	.	.	.	.	.	.	.	.	.	.	C	9.579	1.122991	0.20959	.	.	ENSG00000197451	ENST00000358344;ENST00000506339;ENST00000355836;ENST00000514633;ENST00000515193;ENST00000506259;ENST00000504898	D;D;D;D;D;D;D	0.85773	-2.03;-2.03;-2.03;-2.03;-2.03;-2.03;-2.03	4.96	1.97	0.26223	.	0.459334	0.23189	N	0.050936	T	0.80144	0.4569	M	0.92459	3.31	0.80722	D	1	P;P;B	0.46277	0.803;0.875;0.01	B;B;B	0.22386	0.018;0.039;0.003	T	0.75557	-0.3276	10	0.39692	T	0.17	.	2.9852	0.05965	0.3125:0.4456:0.1523:0.0896	.	245;245;245	D6RD18;Q99729-3;Q99729-2	.;.;.	C	245	ENSP00000351108:R245C;ENSP00000422501:R245C;ENSP00000348093:R245C;ENSP00000427110:R245C;ENSP00000423495:R245C;ENSP00000427465:R245C;ENSP00000425031:R245C	ENSP00000348093:R245C	R	+	1	0	HNRNPAB	177569000	0.995000	0.38212	0.770000	0.31555	0.975000	0.68041	1.458000	0.35223	0.461000	0.27071	0.305000	0.20034	CGT		0.572	PHYKPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253477.1	NM_032921		9	89	0	0	0	1	0	9	89					T	177636394	C	T	177636394	1	4	269	0	1	0	0	0	0	0	0	0	7261	652	23	2		2	HNRNPAB	5	177636394	Intron	SNP	C	TCGA-J4-A67Q-01A-21D-A30E-08		177636394	3278866	5	12558											
CRIP3	401262	broad.mit.edu	37	chr6	43275384	43275384	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gggaggccagtccttggcctGggagggctgaagctgctggg	5	7	20	9	0	0	1	0	1	0	0	1	3	1	3	3	6	2	3	3	6	1	1	rs536850980		TCGA-J4-A67Q-01A-21D-A30E-08	TCGA-J4-A67Q-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	282f9df5-390b-4f67-a898-44746b337dc6	59ffc3d4-1659-40c8-89fe-d48475608509	g.chr6:43275384G>C	ENST00000274990.4	-	4	298	c.294C>G	c.(292-294)ccC>ccG	p.P98P	ZNF318_ENST00000607252.1_5'UTR|CRIP3_ENST00000372569.3_Silent_p.P98P			Q6Q6R5	CRIP3_HUMAN	cysteine-rich protein 3	98					T cell proliferation (GO:0042098)	cytoplasm (GO:0005737)	zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00998)|OV - Ovarian serous cystadenocarcinoma(102;0.0305)			TCCTTGGCCTGGGAGGGCTGA	0.632																																						ENST00000372569.3																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10						c.(292-294)ccC>ccG		cysteine-rich protein 3							46	51	49					6																	43275384		2203	4300	6503	SO:0001819	synonymous_variant	401262					cytoplasm	zinc ion binding	g.chr6:43275384G>C	AY555741	CCDS4894.2	6p21	2008-02-05			ENSG00000146215	ENSG00000146215			17751	protein-coding gene	gene with protein product						15380775	Standard	NM_206922		Approved	TLP-A, bA480N24.2, TLP	uc003ouu.1	Q6Q6R5	OTTHUMG00000014727	ENST00000274990.4:c.294C>G	6.37:g.43275384G>C						ZNF318_ENST00000607252.1_5'UTR|CRIP3_ENST00000274990.4_Silent_p.P98P	p.P98P	NM_206922.2	NP_996805.2	Q6Q6R5	CRIP3_HUMAN	Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00998)|OV - Ovarian serous cystadenocarcinoma(102;0.0305)		4	298	-			98					A2A436|Q5T043|Q6Q6R4|Q6Q6R6|Q6Q6R7	Silent	SNP	ENST00000274990.4	37	c.294C>G		.	.	.	.	.	.	.	.	.	.	G	9.568	1.120372	0.20877	.	.	ENSG00000146215	ENST00000416431	.	.	.	5.28	-2.53	0.06326	.	.	.	.	.	T	0.21427	0.0516	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.34204	-0.9838	4	.	.	.	-35.1792	1.0579	0.01594	0.2812:0.1128:0.3755:0.2305	.	.	.	.	E	46	.	.	Q	-	1	0	CRIP3	43383362	0.983000	0.35010	0.969000	0.41365	0.998000	0.95712	0.181000	0.16880	-0.497000	0.06641	0.655000	0.94253	CAG		0.632	CRIP3-004	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000313968.1			13	68	0	0	0	1	0	13	68					C	43275384	G	C	43275384	2	2	269	1	0	0	0	0	0	0	0	1	3876	1335	47	5		5	CRIP3	6	43275384	Silent	SNP	G	TCGA-J4-A67Q-01A-21D-A30E-08		43275384	127839683	6	12559											
SF3B5	83443	broad.mit.edu	37	chr6	144416413	144416413	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcggctggcggtccacaaggCtgaagcatcttttccatcaa	9	10	10	12	2	2	1	1	1	1	0	5	1	4	1	2	4	1	3	2	4	3	2			TCGA-J4-A67Q-01A-21D-A30E-08	TCGA-J4-A67Q-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	282f9df5-390b-4f67-a898-44746b337dc6	59ffc3d4-1659-40c8-89fe-d48475608509	g.chr6:144416413C>G	ENST00000367569.2	-	1	341	c.222G>C	c.(220-222)caG>caC	p.Q74H		NM_031287.2	NP_112577.1	Q9BWJ5	SF3B5_HUMAN	splicing factor 3b, subunit 5, 10kDa	74					gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|U12-type spliceosomal complex (GO:0005689)				lung(2)|prostate(1)	3				OV - Ovarian serous cystadenocarcinoma(155;1.68e-06)|GBM - Glioblastoma multiforme(68;0.0638)		GTCCACAAGGCTGAAGCATCT	0.572																																						ENST00000367569.2																			0				lung(2)|prostate(1)	3						c.(220-222)caG>caC		splicing factor 3b, subunit 5, 10kDa							106	100	102					6																	144416413		2203	4300	6503	SO:0001583	missense	83443				nuclear mRNA splicing, via spliceosome	nucleoplasm|U12-type spliceosomal complex		g.chr6:144416413C>G	BC000198	CCDS5204.1	6q24.1	2010-01-26			ENSG00000169976	ENSG00000169976			21083	protein-coding gene	gene with protein product						12234937	Standard	NM_031287		Approved	SF3b10, MGC3133, Ysf3	uc003qkr.1	Q9BWJ5	OTTHUMG00000015737	ENST00000367569.2:c.222G>C	6.37:g.144416413C>G	ENSP00000356541:p.Gln74His						p.Q74H	NM_031287.2	NP_112577.1	Q9BWJ5	SF3B5_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;1.68e-06)|GBM - Glioblastoma multiforme(68;0.0638)	1	341	-			74					B2R568|Q7RTV1	Missense_Mutation	SNP	ENST00000367569.2	37	c.222G>C	CCDS5204.1	.	.	.	.	.	.	.	.	.	.	C	18.46	3.627900	0.66901	.	.	ENSG00000169976	ENST00000367569	.	.	.	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	T	0.47451	0.1446	.	.	.	0.80722	D	1	B	0.23058	0.079	B	0.22386	0.039	T	0.40757	-0.9546	8	0.46703	T	0.11	-25.1392	19.9801	0.97322	0.0:1.0:0.0:0.0	.	74	Q9BWJ5	SF3B5_HUMAN	H	74	.	ENSP00000356541:Q74H	Q	-	3	2	SF3B5	144458106	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	5.967000	0.70403	2.811000	0.96726	0.655000	0.94253	CAG		0.572	SF3B5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042537.1	NM_031287		28	125	0	0	0	1	0	28	125					G	144416413	C	G	144416413	3	3	269	1	0	0	0	0	1	0	0	0	14154	796	28	5	42	5	SF3B5	6	144416413	Missense_Mutation	SNP	C	TCGA-J4-A67Q-01A-21D-A30E-08	101141029	144416413	26698654	7	12560											
TBL2	26608	broad.mit.edu	37	chr7	72988435	72988435	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctgctaaagtccatgcaagaTatgttcccgctgtggctcta	9	12	9	11	1	1	1	0	0	1	1	3	1	3	1	2	1	2	5	2	1	5	4			TCGA-J4-A67Q-01A-21D-A30E-08	TCGA-J4-A67Q-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	282f9df5-390b-4f67-a898-44746b337dc6	59ffc3d4-1659-40c8-89fe-d48475608509	g.chr7:72988435T>A	ENST00000305632.5	-	3	520	c.279A>T	c.(277-279)atA>atT	p.I93I	TBL2_ENST00000452475.1_Silent_p.I93I|TBL2_ENST00000432538.1_Silent_p.I57I|TBL2_ENST00000459913.1_5'UTR	NM_012453.2	NP_036585.1	Q9Y4P3	TBL2_HUMAN	transducin (beta)-like 2	93							poly(A) RNA binding (GO:0044822)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	19		Lung NSC(55;0.0659)|all_lung(88;0.152)				CCATGCAAGATATGTTCCCGC	0.582																																						ENST00000305632.5																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	19						c.(277-279)atA>atT		transducin (beta)-like 2							135	112	120					7																	72988435		2203	4300	6503	SO:0001819	synonymous_variant	26608							g.chr7:72988435T>A	AF056183	CCDS5551.1	7q11.23	2013-01-10			ENSG00000106638	ENSG00000106638		"WD repeat domain containing"	11586	protein-coding gene	gene with protein product	"Williams-Beuren syndrome chromosome region 13"	605842				9860302, 10575226	Standard	XM_006715923		Approved	WS-betaTRP, WBSCR13, DKFZP43N024	uc003tyh.3	Q9Y4P3	OTTHUMG00000023427	ENST00000305632.5:c.279A>T	7.37:g.72988435T>A						TBL2_ENST00000432538.1_Silent_p.I57I|TBL2_ENST00000459913.1_5'UTR|TBL2_ENST00000452475.1_Silent_p.I93I	p.I93I	NM_012453.2	NP_036585.1	Q9Y4P3	TBL2_HUMAN			3	520	-		Lung NSC(55;0.0659)|all_lung(88;0.152)	93					Q9UQE2	Silent	SNP	ENST00000305632.5	37	c.279A>T	CCDS5551.1																																																																																				0.582	TBL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252233.3	NM_012453		11	56	0	0	0	1	0	11	56					A	72988435	T	A	72988435	2	1	269	1	0	0	0	0	0	0	0	1	15639	1396	49	5		5	TBL2	7	72988435	Silent	SNP	T	TCGA-J4-A67Q-01A-21D-A30E-08		72988435	86150228	8	12561											
LMOD2	442721	broad.mit.edu	37	chr7	123301995	123301997	+	In_Frame_Del	DEL	GAG	GAG	-																															tttctgaggaagtgtatacaGaggaggaggaggaggagtcc																										TCGA-J4-A67Q-01A-21D-A30E-08	TCGA-J4-A67Q-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	282f9df5-390b-4f67-a898-44746b337dc6	59ffc3d4-1659-40c8-89fe-d48475608509	g.chr7:123301995_123301997delGAG	ENST00000458573.2	+	2	512_514	c.355_357delGAG	c.(355-357)gagdel	p.E124del	LMOD2_ENST00000456238.2_Intron	NM_207163.1	NP_997046.1	Q6P5Q4	LMOD2_HUMAN	leiomodin 2 (cardiac)	124	Glu-rich.					cytoskeleton (GO:0005856)											AGTGTATACAgaggaggaggagg	0.409																																						ENST00000458573.2																			0											c.(355-357)del		leiomodin 2 (cardiac)				66,3558		3,60,1749						-9.4	0			37	117,7687		5,107,3790	no	coding	LMOD2	NM_207163.1		8,167,5539	A1A1,A1R,RR		1.4992,1.8212,1.6013				183,11245				SO:0001651	inframe_deletion	442721					cytoskeleton	actin binding|tropomyosin binding	g.chr7:123301995_123301997delGAG	AC006333	CCDS47693.1	7q31.32	2008-08-08			ENSG00000170807	ENSG00000170807			6648	protein-coding gene	gene with protein product		608006					Standard	NM_207163		Approved		uc003vky.2	Q6P5Q4	OTTHUMG00000157149	ENST00000458573.2:c.355_357delGAG	7.37:g.123302004_123302006delGAG	ENSP00000411932:p.Glu124del					LMOD2_ENST00000456238.2_Intron	p.E124del	NM_207163.1	NP_997046.1	Q6P5Q4	LMOD2_HUMAN			2	512_514	+			124			Glu-rich.		A4D0W9|A4D0Y2|Q8WVJ8	In_Frame_Del	DEL	ENST00000458573.2	37	c.355_357delGAG	CCDS47693.1																																																																																				0.409	LMOD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348525.1			3	5						3	5	---	---	---	---	-	123301997	GAG	-	123301995	7	5	269	1	0	1	0	1	0	0	0	0	8857	943	33	0	361	0	LMOD2	7	123301995	In_Frame_Del	DEL	GAG	TCGA-J4-A67Q-01A-21D-A30E-08	50313560	123301995	35836668	9	12562											
MYOM2	9172	broad.mit.edu	37	chr8	2021549	2021549	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atcgtgtctcggggcggcgtCagcgaccacagcgccttcct	5	8	13	15	6	2	0	1	0	1	0	5	1	3	0	3	3	2	0	3	3	0	1			TCGA-J4-A67Q-01A-21D-A30E-08	TCGA-J4-A67Q-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	282f9df5-390b-4f67-a898-44746b337dc6	59ffc3d4-1659-40c8-89fe-d48475608509	g.chr8:2021549C>T	ENST00000262113.4	+	10	1230	c.1089C>T	c.(1087-1089)gtC>gtT	p.V363V	MYOM2_ENST00000523438.1_Intron	NM_003970.2	NP_003961.2	P54296	MYOM2_HUMAN	myomesin 2	363	Ig-like C2-type 2.		V -> I (in dbSNP:rs34316994).		muscle contraction (GO:0006936)	M band (GO:0031430)|mitochondrion (GO:0005739)|myosin filament (GO:0032982)	structural constituent of muscle (GO:0008307)			autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		GGGGCGGCGTCAGCGACCACA	0.652																																						ENST00000262113.4																			0				autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104						c.(1087-1089)gtC>gtT		myomesin 2							53	45	48					8																	2021549		2203	4300	6503	SO:0001819	synonymous_variant	9172				muscle contraction	myosin filament	structural constituent of muscle	g.chr8:2021549C>T		CCDS5957.1	8p23.3	2014-06-06	2012-10-17		ENSG00000036448	ENSG00000036448		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	7614	protein-coding gene	gene with protein product		603509	"myomesin (M-protein) 2 (165kD)", "myomesin (M-protein) 2, 165kDa"				Standard	XM_006716237		Approved		uc003wpx.4	P54296	OTTHUMG00000129175	ENST00000262113.4:c.1089C>T	8.37:g.2021549C>T						MYOM2_ENST00000523438.1_Intron	p.V363V	NM_003970.2	NP_003961.2	P54296	MYOM2_HUMAN		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)	10	1230	+		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)	363		V -> I (in dbSNP:rs34316994).	Ig-like C2-type 2.		Q7Z3Y2	Silent	SNP	ENST00000262113.4	37	c.1089C>T	CCDS5957.1																																																																																				0.652	MYOM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251249.1	NM_003970		12	39	0	0	0	1	0	12	39					T	2021549	C	T	2021549	2	4	269	1	0	0	0	0	0	0	0	1	10092	813	29	3		3	MYOM2	8	2021549	Silent	SNP	C	TCGA-J4-A67Q-01A-21D-A30E-08		2021549	144342473	10	12563											
KLHL9	55958	broad.mit.edu	37	chr9	21334407	21334408	+	Frame_Shift_Del	DEL	AA	AA	-																															caacctcaacacagttatccAaagagactcctgatataaga																										TCGA-J4-A67Q-01A-21D-A30E-08	TCGA-J4-A67Q-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	282f9df5-390b-4f67-a898-44746b337dc6	59ffc3d4-1659-40c8-89fe-d48475608509	g.chr9:21334407_21334408delAA	ENST00000359039.4	-	1	971_972	c.451_452delTT	c.(451-453)ttgfs	p.L151fs	KLHL9_ENST00000537938.1_Frame_Shift_Del_p.L83fs			Q9P2J3	KLHL9_HUMAN	kelch-like family member 9	151					cytokinesis (GO:0000910)|mitotic nuclear division (GO:0007067)|protein ubiquitination (GO:0016567)	Cul3-RING ubiquitin ligase complex (GO:0031463)|midbody (GO:0030496)				endometrium(9)|large_intestine(7)|lung(10)|ovary(4)|skin(2)	32				Lung(24;8.52e-27)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.118)		ACAGTTATCCAAAGAGACTCCT	0.337																																						ENST00000359039.4																			0				endometrium(9)|large_intestine(7)|lung(10)|ovary(4)|skin(2)	32						c.(451-453)gfs		kelch-like family member 9																																				SO:0001589	frameshift_variant	55958				cytokinesis|mitosis|protein ubiquitination	Cul3-RING ubiquitin ligase complex|midbody		g.chr9:21334407_21334408delAA	AB037775	CCDS6503.1	9p22	2013-01-30	2013-01-30		ENSG00000198642	ENSG00000198642		"Kelch-like", "BTB/POZ domain containing"	18732	protein-coding gene	gene with protein product		611201	"kelch-like 9 (Drosophila)"				Standard	NM_018847		Approved	KIAA1354, FLJ13568	uc003zoy.3	Q9P2J3	OTTHUMG00000019669	ENST00000359039.4:c.451_452delTT	9.37:g.21334407_21334408delAA	ENSP00000351933:p.Leu151fs					KLHL9_ENST00000537938.1_Frame_Shift_Del_p.L83fs	p.L151fs			Q9P2J3	KLHL9_HUMAN		Lung(24;8.52e-27)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.118)	1	971_972	-			151					Q8TCQ2	Frame_Shift_Del	DEL	ENST00000359039.4	37	c.451_452delTT	CCDS6503.1																																																																																				0.337	KLHL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051898.2	NM_018847		9	44						9	44	---	---	---	---	-	21334408	AA	-	21334407	7	5	269	1	0	1	0	1	0	0	0	0	8396	131	5	0	1405	0	KLHL9	9	21334407	Frame_Shift_Del	DEL	AA	TCGA-J4-A67Q-01A-21D-A30E-08		21334407	119879024	11	12564											
KIAA1161	57462	broad.mit.edu	37	chr9	34372001	34372001	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	atgtggaccaaatggggtctCggaaggcctcgggtgctggc	7	8	17	9	2	1	0	0	0	1	0	3	2	1	2	2	7	1	1	2	7	2	0			TCGA-J4-A67Q-01A-21D-A30E-08	TCGA-J4-A67Q-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	282f9df5-390b-4f67-a898-44746b337dc6	59ffc3d4-1659-40c8-89fe-d48475608509	g.chr9:34372001C>G	ENST00000297625.7	-	2	1064	c.839G>C	c.(838-840)cGa>cCa	p.R280P		NM_020702.3	NP_065753.2	Q6NSJ0	K1161_HUMAN	KIAA1161	314					carbohydrate metabolic process (GO:0005975)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of protein kinase B signaling (GO:0051897)|skeletal muscle fiber development (GO:0048741)	integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965)	hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)	12			LUSC - Lung squamous cell carcinoma(29;0.0107)	GBM - Glioblastoma multiforme(74;0.126)		AATGGGGTCTCGGAAGGCCTC	0.612																																						ENST00000297625.7																			0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)	12						c.(838-840)cGa>cCa		KIAA1161							60	63	62					9																	34372001		2063	4187	6250	SO:0001583	missense	57462				carbohydrate metabolic process	integral to membrane	hydrolase activity, hydrolyzing O-glycosyl compounds	g.chr9:34372001C>G	AB032987		9p11.2	2009-11-06			ENSG00000164976	ENSG00000164976			19918	protein-coding gene	gene with protein product						10574461	Standard	XM_006716808		Approved	NET37	uc003zue.4	Q6NSJ0	OTTHUMG00000019816	ENST00000297625.7:c.839G>C	9.37:g.34372001C>G	ENSP00000297625:p.Arg280Pro						p.R280P	NM_020702.3	NP_065753.2	Q6NSJ0	K1161_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0107)	GBM - Glioblastoma multiforme(74;0.126)	2	1064	-			314					Q5T587|Q5T588|Q9ULQ9	Missense_Mutation	SNP	ENST00000297625.7	37	c.839G>C		.	.	.	.	.	.	.	.	.	.	C	18.55	3.647966	0.67358	.	.	ENSG00000164976	ENST00000297625	T	0.38077	1.16	6.08	5.18	0.71444	Aldolase-type TIM barrel (1);Glycoside hydrolase, superfamily (1);	0.376195	0.27219	N	0.020368	T	0.50034	0.1592	M	0.79123	2.44	0.45118	D	0.998137	P	0.48694	0.914	P	0.51999	0.687	T	0.52873	-0.8517	10	0.49607	T	0.09	-9.6627	10.1365	0.42710	0.0:0.8486:0.0:0.1514	.	314	Q6NSJ0	K1161_HUMAN	P	280	ENSP00000297625:R280P	ENSP00000297625:R280P	R	-	2	0	KIAA1161	34362001	0.923000	0.31300	0.995000	0.50966	0.991000	0.79684	2.082000	0.41605	1.591000	0.50007	0.655000	0.94253	CGA		0.612	KIAA1161-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000052158.1	XM_351807		10	61	0	0	0	1	0	10	61					G	34372001	C	G	34372001	3	3	269	1	0	0	0	0	1	0	0	0	8211	884	31	5	1207	5	KIAA1161	9	34372001	Missense_Mutation	SNP	C	TCGA-J4-A67Q-01A-21D-A30E-08	13037594	34372001	106841430	12	12565											
TLE4	7091	broad.mit.edu	37	chr9	82339965	82339965	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttcctagtccaaagaatcctCatcggtgcttagctgtgaca	10	12	8	11	1	1	2	1	1	0	1	5	2	4	2	3	1	2	2	3	1	4	3			TCGA-J4-A67Q-01A-21D-A30E-08	TCGA-J4-A67Q-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	282f9df5-390b-4f67-a898-44746b337dc6	59ffc3d4-1659-40c8-89fe-d48475608509	g.chr9:82339965C>T	ENST00000376552.2	+	20	3246	c.2228C>T	c.(2227-2229)tCa>tTa	p.S743L	TLE4_ENST00000376534.4_Missense_Mutation_p.S380L|TLE4_ENST00000376520.4_Missense_Mutation_p.S775L|TLE4_ENST00000265284.6_Missense_Mutation_p.S718L|TLE4_ENST00000376544.3_Missense_Mutation_p.S674L|TLE4_ENST00000376537.4_Missense_Mutation_p.S775L	NM_007005.3	NP_008936.2	Q04727	TLE4_HUMAN	transducin-like enhancer of split 4	743					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|Wnt signaling pathway (GO:0016055)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|transcription corepressor activity (GO:0003714)			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	39						AAAGAATCCTCATCGGTGCTT	0.368																																						ENST00000376520.4																			0				breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	39						c.(2323-2325)tCa>tTa		transducin-like enhancer of split 4 (E(sp1) homolog, Drosophila)							120	114	116					9																	82339965		1962	4199	6161	SO:0001583	missense	7091							g.chr9:82339965C>T	M99439	CCDS43837.1, CCDS65069.1, CCDS65070.1, CCDS75851.1	9q21.32	2014-03-07	2014-03-07		ENSG00000106829	ENSG00000106829		"WD repeat domain containing"	11840	protein-coding gene	gene with protein product		605132	"transducin-like enhancer of split 4, homolog of Drosophila E(sp1)", "transducin-like enhancer of split 4 (E(sp1) homolog, Drosophila)"			8365415	Standard	XM_005252167		Approved	E(spI), ESG, GRG4	uc004alc.3	Q04727	OTTHUMG00000020072	ENST00000376552.2:c.2228C>T	9.37:g.82339965C>T	ENSP00000365735:p.Ser743Leu					TLE4_ENST00000376534.4_Missense_Mutation_p.S380L|TLE4_ENST00000376537.4_Missense_Mutation_p.S775L|TLE4_ENST00000376544.3_Missense_Mutation_p.S674L|TLE4_ENST00000376552.2_Missense_Mutation_p.S743L|TLE4_ENST00000265284.6_Missense_Mutation_p.S718L	p.S775L			O60756	BCE1_HUMAN			21	3152	+			0					F8W6T6|Q3ZCS1|Q5T1Y2|Q6PCB3|Q9BZ07|Q9BZ08|Q9BZ09|Q9NSL3|Q9ULF9	Missense_Mutation	SNP	ENST00000376552.2	37	c.2324C>T	CCDS43837.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.409241	0.83340	.	.	ENSG00000106829	ENST00000376552;ENST00000376544;ENST00000376520;ENST00000376537;ENST00000376534;ENST00000265284	T;T;T;T;T;T	0.62788	2.69;0.0;2.69;2.69;0.0;2.69	6.03	6.03	0.97812	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.060929	0.64402	D	0.000002	T	0.81941	0.4929	M	0.80847	2.515	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;1.0;1.0	D;D;D;D	0.97110	0.999;0.992;0.999;1.0	T	0.82621	-0.0367	10	0.87932	D	0	-13.1218	20.5568	0.99304	0.0:1.0:0.0:0.0	.	718;674;775;743	F8W6T6;Q04727-2;Q04727-3;Q04727	.;.;.;TLE4_HUMAN	L	743;674;775;775;380;718	ENSP00000365735:S743L;ENSP00000365727:S674L;ENSP00000365703:S775L;ENSP00000365720:S775L;ENSP00000365717:S380L;ENSP00000265284:S718L	ENSP00000265284:S718L	S	+	2	0	TLE4	81529785	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.757000	0.85209	2.861000	0.98227	0.655000	0.94253	TCA		0.368	TLE4-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052792.4	XM_212237		7	63	0	0	0	1	0	7	63					T	82339965	C	T	82339965	3	4	269	1	0	0	0	0	1	0	0	0	15938	838	29	3	2306	3	TLE4	9	82339965	Missense_Mutation	SNP	C	TCGA-J4-A67Q-01A-21D-A30E-08	47967964	82339965	58873466	13	12566											
ROR2	4920	broad.mit.edu	37	chr9	94486363	94486363	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catgggtctgatctggccctTcatggggatgaactggggct	6	11	15	9	0	3	2	1	2	2	0	3	3	3	3	1	6	1	1	1	6	1	1			TCGA-J4-A67Q-01A-21D-A30E-08	TCGA-J4-A67Q-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	282f9df5-390b-4f67-a898-44746b337dc6	59ffc3d4-1659-40c8-89fe-d48475608509	g.chr9:94486363T>C	ENST00000375708.3	-	9	2611	c.2413A>G	c.(2413-2415)Aag>Gag	p.K805E	ROR2_ENST00000550066.1_5'UTR|ROR2_ENST00000375715.1_Intron	NM_004560.3	NP_004551.2	Q01974	ROR2_HUMAN	receptor tyrosine kinase-like orphan receptor 2	805	Pro-rich.				cartilage condensation (GO:0001502)|cell differentiation (GO:0030154)|embryonic genitalia morphogenesis (GO:0030538)|inner ear morphogenesis (GO:0042472)|JNK cascade (GO:0007254)|multicellular organismal development (GO:0007275)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell migration (GO:0030335)|positive regulation of transcription, DNA-templated (GO:0045893)|signal transduction (GO:0007165)|somitogenesis (GO:0001756)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|Wnt signaling pathway, calcium modulating pathway (GO:0007223)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	clathrin-coated endocytic vesicle membrane (GO:0030669)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|Wnt-protein binding (GO:0017147)			autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						ATCTGGCCCTTCATGGGGATG	0.662																																						ENST00000375708.3																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						c.(2413-2415)Aag>Gag		receptor tyrosine kinase-like orphan receptor 2							43	51	48					9																	94486363		2201	4300	6501	SO:0001583	missense	4920				negative regulation of cell proliferation|positive regulation of cell migration|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding	g.chr9:94486363T>C	M97639	CCDS6691.1	9q22	2013-01-11			ENSG00000169071	ENSG00000169071		"Immunoglobulin superfamily / I-set domain containing"	10257	protein-coding gene	gene with protein product		602337		NTRKR2, BDB, BDB1		1334494, 10700182	Standard	NM_004560		Approved		uc004arj.2	Q01974	OTTHUMG00000020211	ENST00000375708.3:c.2413A>G	9.37:g.94486363T>C	ENSP00000364860:p.Lys805Glu					ROR2_ENST00000375715.1_Intron|ROR2_ENST00000550066.1_5'UTR	p.K805E	NM_004560.3	NP_004551.2	Q01974	ROR2_HUMAN			9	2611	-			805			Pro-rich.		Q59GF5|Q5SPI5|Q9HAY7|Q9HB61	Missense_Mutation	SNP	ENST00000375708.3	37	c.2413A>G	CCDS6691.1	.	.	.	.	.	.	.	.	.	.	T	13.24	2.179186	0.38511	.	.	ENSG00000169071	ENST00000375708	T	0.76316	-1.01	4.65	4.65	0.58169	.	0.000000	0.44097	D	0.000485	T	0.70290	0.3207	N	0.24115	0.695	0.40707	D	0.982538	D	0.59767	0.986	P	0.49922	0.626	T	0.67597	-0.5630	10	0.15499	T	0.54	.	14.2745	0.66170	0.0:0.0:0.0:1.0	.	805	Q01974	ROR2_HUMAN	E	805	ENSP00000364860:K805E	ENSP00000364860:K805E	K	-	1	0	ROR2	93526184	1.000000	0.71417	1.000000	0.80357	0.755000	0.42902	1.833000	0.39161	1.957000	0.56846	0.459000	0.35465	AAG		0.662	ROR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053040.1			8	77	0	0	0	1	0	8	77					C	94486363	T	C	94486363	3	2	269	1	0	0	0	0	1	0	0	0	13527	1792	62	4	422	4	ROR2	9	94486363	Missense_Mutation	SNP	T	TCGA-J4-A67Q-01A-21D-A30E-08	12146398	94486363	46727068	14	12567											
ADAMTS14	140766	broad.mit.edu	37	chr10	72498708	72498708	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgttcgcggtcatgtgggggCggggtgcgatcccgcagccg	3	8	19	11	6	1	0	1	0	0	0	3	1	2	0	2	5	2	2	2	5	0	1	rs564750212	byFrequency	TCGA-J4-A67Q-01A-21D-A30E-08	TCGA-J4-A67Q-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	282f9df5-390b-4f67-a898-44746b337dc6	59ffc3d4-1659-40c8-89fe-d48475608509	g.chr10:72498708C>T	ENST00000373207.1	+	11	1710	c.1710C>T	c.(1708-1710)ggC>ggT	p.G570G	ADAMTS14_ENST00000373208.1_Silent_p.G573G	NM_080722.3	NP_542453.2	Q8WXS8	ATS14_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 14	570	TSP type-1 1. {ECO:0000255|PROSITE- ProRule:PRU00210}.				collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(15)|ovary(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						CATGTGGGGGCGGGGTGCGAT	0.652													C|||	2	0.000399361	0	0	5008	,	,		18293	0		0	False		,,,				2504	0.002					ENST00000373208.1																			0				NS(1)|autonomic_ganglia(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(15)|ovary(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						c.(1717-1719)ggC>ggT		ADAM metallopeptidase with thrombospondin type 1 motif, 14							57	53	54					10																	72498708		2203	4300	6503	SO:0001819	synonymous_variant	140766				collagen catabolic process|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr10:72498708C>T	AF358666	CCDS7306.1, CCDS7307.1	10q21	2008-08-01	2005-08-19		ENSG00000138316	ENSG00000138316		"ADAM metallopeptidases with thrombospondin type 1 motif"	14899	protein-coding gene	gene with protein product		607506	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 14"			11779638	Standard	NM_139155		Approved		uc001jrg.3	Q8WXS8	OTTHUMG00000018414	ENST00000373207.1:c.1710C>T	10.37:g.72498708C>T						ADAMTS14_ENST00000373207.1_Silent_p.G570G	p.G573G	NM_139155.2	NP_631894.2	Q8WXS8	ATS14_HUMAN			11	1719	+			570			TSP type-1 1.		Q5T4G0|Q5T4G1|Q8TE55|Q8TEY8	Silent	SNP	ENST00000373207.1	37	c.1719C>T	CCDS7306.1																																																																																				0.652	ADAMTS14-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000048522.1	NM_080722		5	48	0	0	0	1	0	5	48					T	72498708	C	T	72498708	2	4	269	1	0	0	0	0	0	0	0	1	259	755	27	1		1	ADAMTS14	10	72498708	Silent	SNP	C	TCGA-J4-A67Q-01A-21D-A30E-08		72498708	63036039	15	12568											
KIF11	3832	broad.mit.edu	37	chr10	94413536	94413536	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agagcagattacctctgcgaGcccagatcaacctttaattc	12	10	7	12	1	2	3	1	0	1	3	3	4	2	3	3	0	5	1	3	0	3	4			TCGA-J4-A67Q-01A-21D-A30E-08	TCGA-J4-A67Q-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	282f9df5-390b-4f67-a898-44746b337dc6	59ffc3d4-1659-40c8-89fe-d48475608509	g.chr10:94413536G>C	ENST00000260731.3	+	22	3244	c.3154G>C	c.(3154-3156)Gcc>Ccc	p.A1052P		NM_004523.3	NP_004514.2	P52732	KIF11_HUMAN	kinesin family member 11	1052					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|chromosome segregation (GO:0007059)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic centrosome separation (GO:0007100)|mitotic nuclear division (GO:0007067)|mitotic spindle organization (GO:0007052)|spindle assembly involved in mitosis (GO:0090307)|spindle organization (GO:0007051)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)|spindle (GO:0005819)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)|protein complex binding (GO:0032403)|protein kinase binding (GO:0019901)			breast(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						ACCTCTGCGAGCCCAGATCAA	0.388																																					Colon(47;212 1003 2764 4062 8431)	ENST00000260731.3																			0				breast(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(3154-3156)Gcc>Ccc		kinesin family member 11							72	66	68					10																	94413536		2203	4300	6503	SO:0001583	missense	3832				blood coagulation|cell division|microtubule-based movement|spindle assembly involved in mitosis	chromatin remodeling complex|cytosol|kinesin complex|microtubule|spindle pole	ATP binding|microtubule motor activity|protein kinase binding	g.chr10:94413536G>C	X85137	CCDS7422.1	10q24.1	2008-03-03	2003-01-09	2003-01-10	ENSG00000138160	ENSG00000138160		"Kinesins"	6388	protein-coding gene	gene with protein product		148760	"kinesin-like 1"	KNSL1		1505978, 8548803	Standard	NM_004523		Approved	Eg5, HKSP, TRIP5	uc001kic.3	P52732	OTTHUMG00000018761	ENST00000260731.3:c.3154G>C	10.37:g.94413536G>C	ENSP00000260731:p.Ala1052Pro						p.A1052P	NM_004523.3	NP_004514.2	P52732	KIF11_HUMAN			22	3244	+			1052					A0AV49|B2RMV3|Q15716|Q5VWX0	Missense_Mutation	SNP	ENST00000260731.3	37	c.3154G>C	CCDS7422.1	.	.	.	.	.	.	.	.	.	.	G	11.84	1.759472	0.31137	.	.	ENSG00000138160	ENST00000260731	T	0.65732	-0.17	5.31	1.34	0.21922	.	0.657231	0.15768	N	0.245562	T	0.61565	0.2357	L	0.60455	1.87	0.21325	N	0.999723	P	0.46142	0.873	P	0.49192	0.602	T	0.51631	-0.8681	10	0.41790	T	0.15	.	7.8143	0.29249	0.3364:0.0:0.6636:0.0	.	1052	P52732	KIF11_HUMAN	P	1052	ENSP00000260731:A1052P	ENSP00000260731:A1052P	A	+	1	0	KIF11	94403516	0.992000	0.36948	0.961000	0.40146	0.038000	0.13279	0.673000	0.25203	0.168000	0.19655	-0.145000	0.13849	GCC		0.388	KIF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049401.1	NM_004523		6	48	0	0	0	1	0	6	48					C	94413536	G	C	94413536	3	2	269	1	0	0	0	0	1	0	0	0	8272	971	34	5	3240	5	KIF11	10	94413536	Missense_Mutation	SNP	G	TCGA-J4-A67Q-01A-21D-A30E-08	21914828	94413536	41121211	16	12569											
C10orf12	26148	broad.mit.edu	37	chr10	98741523	98741523	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tgccagctgtacacaaagcgGcaaatggacactcaagaacc	15	5	9	12	1	1	1	1	0	0	1	1	2	1	2	2	2	5	3	2	2	5	1			TCGA-J4-A67Q-01A-21D-A30E-08	TCGA-J4-A67Q-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	282f9df5-390b-4f67-a898-44746b337dc6	59ffc3d4-1659-40c8-89fe-d48475608509	g.chr10:98741523G>A	ENST00000286067.2	+	1	483	c.376G>A	c.(376-378)Gca>Aca	p.A126T		NM_015652.2	NP_056467.2	Q8N655	CJ012_HUMAN	chromosome 10 open reading frame 12	126										NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(3)|prostate(2)|skin(2)|stomach(4)	45		Colorectal(252;0.172)		Epithelial(162;6.35e-09)|all cancers(201;3.21e-07)		ACACAAAGCGGCAAATGGACA	0.458																																						ENST00000286067.2																			0				NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(3)|prostate(2)|skin(2)|stomach(4)	45						c.(376-378)Gca>Aca		chromosome 10 open reading frame 12							91	94	93					10																	98741523		2203	4300	6503	SO:0001583	missense	26148							g.chr10:98741523G>A	BC024315	CCDS7452.1	10q24.2	2014-03-11			ENSG00000155640	ENSG00000155640			23420	protein-coding gene	gene with protein product						24550272	Standard	NM_015652		Approved	DKFZP564P1916, FLJ13022	uc001kmv.3	Q8N655	OTTHUMG00000018840	ENST00000286067.2:c.376G>A	10.37:g.98741523G>A	ENSP00000286067:p.Ala126Thr						p.A126T	NM_015652.2	NP_056467.2	Q8N655	CJ012_HUMAN		Epithelial(162;6.35e-09)|all cancers(201;3.21e-07)	1	483	+		Colorectal(252;0.172)	126					Q9H945|Q9Y457	Missense_Mutation	SNP	ENST00000286067.2	37	c.376G>A	CCDS7452.1	.	.	.	.	.	.	.	.	.	.	G	5.780	0.328259	0.10956	.	.	ENSG00000155640	ENST00000286067	T	0.06687	3.27	5.95	3.64	0.41730	.	0.413567	0.20454	N	0.092022	T	0.03564	0.0102	N	0.08118	0	0.27491	N	0.952274	B	0.15141	0.012	B	0.13407	0.009	T	0.36237	-0.9756	10	0.38643	T	0.18	-6.4832	1.3673	0.02204	0.1398:0.162:0.1585:0.5397	.	126	Q8N655	CJ012_HUMAN	T	126	ENSP00000286067:A126T	ENSP00000286067:A126T	A	+	1	0	C10orf12	98731513	0.999000	0.42202	0.995000	0.50966	0.007000	0.05969	0.475000	0.22164	0.518000	0.28383	-0.262000	0.10625	GCA		0.458	C10orf12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049627.1	NM_015652		4	77	0	0	0	1	0	4	77					A	98741523	G	A	98741523	3	1	269	1	0	0	0	0	1	0	0	0	1589	1203	42	3	378	3	C10orf12	10	98741523	Missense_Mutation	SNP	G	TCGA-J4-A67Q-01A-21D-A30E-08	4327987	98741523	36793224	17	12570											
ATM	472	broad.mit.edu	37	chr11	108143527	108143527	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atgaagtatttacacaatttCttgctgacaatcatcaccaa	15	13	4	9	0	3	2	2	2	1	0	3	2	3	2	1	0	2	2	1	0	6	5			TCGA-J4-A67Q-01A-21D-A30E-08	TCGA-J4-A67Q-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	282f9df5-390b-4f67-a898-44746b337dc6	59ffc3d4-1659-40c8-89fe-d48475608509	g.chr11:108143527C>G	ENST00000452508.2	+	23	3421	c.3232C>G	c.(3232-3234)Ctt>Gtt	p.L1078V	ATM_ENST00000278616.4_Missense_Mutation_p.L1078V			Q13315	ATM_HUMAN	ATM serine/threonine kinase	1078					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|DNA damage induced protein phosphorylation (GO:0006975)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|heart development (GO:0007507)|histone mRNA catabolic process (GO:0071044)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|lipoprotein catabolic process (GO:0042159)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of B cell proliferation (GO:0030889)|neuron apoptotic process (GO:0051402)|oocyte development (GO:0048599)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of neuron apoptotic process (GO:0043525)|pre-B cell allelic exclusion (GO:0002331)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reciprocal meiotic recombination (GO:0007131)|replicative senescence (GO:0090399)|response to hypoxia (GO:0001666)|response to ionizing radiation (GO:0010212)|signal transduction (GO:0007165)|signal transduction involved in mitotic G2 DNA damage checkpoint (GO:0072434)|somitogenesis (GO:0001756)|telomere maintenance (GO:0000723)	cytoplasmic vesicle (GO:0031410)|nucleoplasm (GO:0005654)|spindle (GO:0005819)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|histone serine kinase activity (GO:0035174)|protein complex binding (GO:0032403)|protein dimerization activity (GO:0046983)|protein N-terminus binding (GO:0047485)|protein serine/threonine kinase activity (GO:0004674)			NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	Caffeine(DB00201)	TACACAATTTCTTGCTGACAA	0.388			"D, Mis, N, F, S"		T-PLL	"leukemia, lymphoma, medulloblastoma, glioma"		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)																												ENST00000278616.4			yes	Rec	yes	Ataxia-telangiectasia	11	11q22.3	472	"D, Mis, N, F, S"	ataxia telangiectasia mutated			"L, O"		"leukemia, lymphoma, medulloblastoma, glioma"	T-PLL		0				NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448						c.(3232-3234)Ctt>Gtt	Genes defective in diseases associated with sensitivity to DNA damaging agents	ataxia telangiectasia mutated							138	129	132					11																	108143527		2201	4298	6499	SO:0001583	missense	472	Ataxia Telangiectasia	Familial Cancer Database	AT, Louis-Bar syndrome	cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding	g.chr11:108143527C>G	AB209133	CCDS31669.1	11q22-q23	2014-09-17	2014-06-17		ENSG00000149311	ENSG00000149311			795	protein-coding gene	gene with protein product	"TEL1, telomere maintenance 1, homolog (S. cerevisiae)"	607585	"ataxia telangiectasia mutated (includes complementation groups A, C and D)", "ataxia telangiectasia mutated"	ATA, ATDC, ATC, ATD			Standard	XM_005271561		Approved	TEL1, TELO1	uc001pkb.1	Q13315	OTTHUMG00000166480	ENST00000452508.2:c.3232C>G	11.37:g.108143527C>G	ENSP00000388058:p.Leu1078Val	TSP Lung(14;0.12)				ATM_ENST00000452508.2_Missense_Mutation_p.L1078V	p.L1078V	NM_000051.3	NP_000042.3	Q13315	ATM_HUMAN		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	22	3617	+		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)	1078					B2RNX5|O15429|Q12758|Q16551|Q93007|Q9NP02|Q9UCX7	Missense_Mutation	SNP	ENST00000452508.2	37	c.3232C>G	CCDS31669.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.359961	0.82353	.	.	ENSG00000149311	ENST00000527805;ENST00000278616;ENST00000452508	T;T;T	0.76186	-1.0;-1.0;-1.0	5.63	5.63	0.86233	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.86481	0.5943	M	0.71581	2.175	0.45239	D	0.998247	D	0.89917	1.0	D	0.83275	0.996	D	0.86719	0.1941	10	0.72032	D	0.01	.	20.0499	0.97621	0.0:1.0:0.0:0.0	.	1078	Q13315	ATM_HUMAN	V	1078	ENSP00000435747:L1078V;ENSP00000278616:L1078V;ENSP00000388058:L1078V	ENSP00000278616:L1078V	L	+	1	0	ATM	107648737	1.000000	0.71417	1.000000	0.80357	0.875000	0.50365	6.305000	0.72805	2.798000	0.96311	0.655000	0.94253	CTT		0.388	ATM-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389938.1	NM_000051		6	56	0	0	0	1	0	6	56					G	108143527	C	G	108143527	3	3	269	1	0	0	0	0	1	0	0	0	1109	913	32	5	3314	5	ATM	11	108143527	Missense_Mutation	SNP	C	TCGA-J4-A67Q-01A-21D-A30E-08		108143527	26862989	18	12571											
LMO3	55885	broad.mit.edu	37	chr12	16704208	16704208	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttaaaccttcctcgtagtccGtctggcaaaggatcatgtta	10	13	8	10	2	2	0	1	0	1	0	5	1	4	1	3	2	1	3	3	2	5	4	rs145877643		TCGA-J4-A67Q-01A-21D-A30E-08	TCGA-J4-A67Q-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	282f9df5-390b-4f67-a898-44746b337dc6	59ffc3d4-1659-40c8-89fe-d48475608509	g.chr12:16704208G>A	ENST00000320122.6	-	4	908	c.386C>T	c.(385-387)aCg>aTg	p.T129M	LMO3_ENST00000541295.1_Missense_Mutation_p.T147M|LMO3_ENST00000540445.1_Missense_Mutation_p.T151M|LMO3_ENST00000534946.1_Missense_Mutation_p.T129M|LMO3_ENST00000261169.6_Missense_Mutation_p.T140M|LMO3_ENST00000537304.1_Missense_Mutation_p.T129M|LMO3_ENST00000541846.1_Missense_Mutation_p.T129M|LMO3_ENST00000535535.1_Missense_Mutation_p.T129M|LMO3_ENST00000354662.1_Missense_Mutation_p.T129M|LMO3_ENST00000540848.1_Missense_Mutation_p.T129M|LMO3_ENST00000441439.2_Missense_Mutation_p.T129M|LMO3_ENST00000447609.1_Missense_Mutation_p.T129M	NM_001243611.1	NP_001230540.1	Q8TAP4	LMO3_HUMAN	LIM domain only 3 (rhombotin-like 2)	129	LIM zinc-binding 2. {ECO:0000255|PROSITE- ProRule:PRU00125}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)		zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(2)|skin(1)	5		Hepatocellular(102;0.244)				CTCGTAGTCCGTCTGGCAAAG	0.348																																						ENST00000320122.6																			0				endometrium(2)|large_intestine(2)|skin(1)	5						c.(385-387)aCg>aTg		LIM domain only 3 (rhombotin-like 2)		G	MET/THR,MET/THR	0,4406		0,0,2203	159	148	152		386,386	5.2	1	12	dbSNP_134	152	2,8598	2.2+/-6.3	0,2,4298	no	missense,missense	LMO3	NM_001001395.2,NM_018640.4	81,81	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	benign,benign	129/146,129/146	16704208	2,13004	2203	4300	6503	SO:0001583	missense	55885				regulation of transcription, DNA-dependent|transcription, DNA-dependent		zinc ion binding	g.chr12:16704208G>A	BC026311	CCDS8678.1, CCDS58210.1, CCDS58211.1, CCDS58212.1	12p13	2004-05-19			ENSG00000048540	ENSG00000048540			6643	protein-coding gene	gene with protein product		180386		RBTNL2		11489251	Standard	NM_018640		Approved	Rhom-3, DAT1	uc010shy.2	Q8TAP4	OTTHUMG00000168837	ENST00000320122.6:c.386C>T	12.37:g.16704208G>A	ENSP00000312856:p.Thr129Met					LMO3_ENST00000354662.1_Missense_Mutation_p.T129M|LMO3_ENST00000534946.1_Missense_Mutation_p.T129M|LMO3_ENST00000535535.1_Missense_Mutation_p.T129M|LMO3_ENST00000541846.1_Missense_Mutation_p.T129M|LMO3_ENST00000447609.1_Missense_Mutation_p.T129M|LMO3_ENST00000541295.1_Missense_Mutation_p.T147M|LMO3_ENST00000540848.1_Missense_Mutation_p.T129M|LMO3_ENST00000261169.6_Missense_Mutation_p.T140M|LMO3_ENST00000540445.1_Missense_Mutation_p.T151M|LMO3_ENST00000441439.2_Missense_Mutation_p.T129M|LMO3_ENST00000537304.1_Missense_Mutation_p.T129M	p.T129M	NM_001243611.1	NP_001230540.1	Q8TAP4	LMO3_HUMAN			4	908	-		Hepatocellular(102;0.244)	129			LIM zinc-binding 2.		B4DG90|B4DH35|Q58A66|Q58A67|Q8N974|Q9UDD5	Missense_Mutation	SNP	ENST00000320122.6	37	c.386C>T	CCDS8678.1	.	.	.	.	.	.	.	.	.	.	G	11.02	1.516897	0.27123	0.0	2.33E-4	ENSG00000048540	ENST00000354662;ENST00000441439;ENST00000447609;ENST00000320122;ENST00000261169;ENST00000542544;ENST00000540848;ENST00000535535;ENST00000537304;ENST00000541295;ENST00000534946;ENST00000540445;ENST00000541846	D;D;D;D;D;D;D;D;D;D;D;D	0.87729	-2.29;-2.29;-2.29;-2.29;-2.29;-2.29;-2.29;-2.29;-2.29;-2.29;-2.29;-2.29	5.18	5.18	0.71444	Zinc finger, LIM-type (4);	0.055129	0.64402	D	0.000001	D	0.83510	0.5270	L	0.43554	1.36	0.58432	D	0.999999	B;B;B;B	0.30114	0.269;0.165;0.015;0.037	B;B;B;B	0.26094	0.066;0.046;0.028;0.046	T	0.80899	-0.1176	10	0.36615	T	0.2	.	19.0444	0.93013	0.0:0.0:1.0:0.0	.	151;147;129;140	B4DH35;B4DG90;Q8TAP4;Q58A67	.;.;LMO3_HUMAN;.	M	129;129;129;129;140;109;129;129;129;147;129;151;129	ENSP00000346689:T129M;ENSP00000412479:T129M;ENSP00000413703:T129M;ENSP00000312856:T129M;ENSP00000261169:T140M;ENSP00000445751:T129M;ENSP00000446115:T129M;ENSP00000440099:T129M;ENSP00000446463:T147M;ENSP00000439275:T129M;ENSP00000442786:T151M;ENSP00000444393:T129M	ENSP00000261169:T140M	T	-	2	0	LMO3	16595475	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.036000	0.93758	2.536000	0.85505	0.563000	0.77884	ACG		0.348	LMO3-014	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401279.1	NM_018640		5	74	0	0	0	1	0	5	74					A	16704208	G	A	16704208	3	1	269	1	0	0	0	0	1	0	0	0	8853	1145	40	1	55	1	LMO3	12	16704208	Missense_Mutation	SNP	G	TCGA-J4-A67Q-01A-21D-A30E-08		16704208	117147687	19	12572											
HELB	92797	broad.mit.edu	37	chr12	66703846	66703846	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacctccttggcatttatgtGtcgatgtcgaaaaggtgctt	9	14	10	8	2	0	0	0	0	0	0	3	2	1	0	2	2	2	2	2	2	4	4			TCGA-J4-A67Q-01A-21D-A30E-08	TCGA-J4-A67Q-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	282f9df5-390b-4f67-a898-44746b337dc6	59ffc3d4-1659-40c8-89fe-d48475608509	g.chr12:66703846G>A	ENST00000247815.4	+	4	1197	c.1138G>A	c.(1138-1140)Gtc>Atc	p.V380I		NM_033647.3	NP_387467.2	Q8NG08	HELB_HUMAN	helicase (DNA) B	380					DNA duplex unwinding (GO:0032508)|DNA replication (GO:0006260)|DNA replication, synthesis of RNA primer (GO:0006269)		ATP binding (GO:0005524)|ATP-dependent 5'-3' DNA helicase activity (GO:0043141)|single-stranded DNA-dependent ATP-dependent DNA helicase activity (GO:0017116)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	40			GBM - Glioblastoma multiforme(2;0.000142)	GBM - Glioblastoma multiforme(28;0.0265)		GCATTTATGTGTCGATGTCGA	0.423																																						ENST00000247815.4																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	40						c.(1138-1140)Gtc>Atc		helicase (DNA) B							198	194	195					12																	66703846		2203	4300	6503	SO:0001583	missense	92797				DNA replication, synthesis of RNA primer		ATP binding|ATP-dependent 5'-3' DNA helicase activity|single-stranded DNA-dependent ATP-dependent DNA helicase activity	g.chr12:66703846G>A	AF319995	CCDS8976.1	12q14.2	2009-01-15			ENSG00000127311	ENSG00000127311			17196	protein-coding gene	gene with protein product		614539				12181327	Standard	NM_033647		Approved		uc001sti.3	Q8NG08	OTTHUMG00000169006	ENST00000247815.4:c.1138G>A	12.37:g.66703846G>A	ENSP00000247815:p.Val380Ile						p.V380I	NM_033647.3	NP_387467.2	Q8NG08	HELB_HUMAN	GBM - Glioblastoma multiforme(2;0.000142)	GBM - Glioblastoma multiforme(28;0.0265)	4	1197	+			380					A8K4C9|Q4G0T2|Q9H7L5	Missense_Mutation	SNP	ENST00000247815.4	37	c.1138G>A	CCDS8976.1	.	.	.	.	.	.	.	.	.	.	G	18.55	3.647854	0.67358	.	.	ENSG00000127311	ENST00000247815	T	0.54279	0.58	6.17	5.28	0.74379	.	0.135991	0.49916	D	0.000133	T	0.57577	0.2063	M	0.68952	2.095	0.21762	N	0.999559	D	0.56521	0.976	P	0.49922	0.626	T	0.57412	-0.7816	9	.	.	.	-23.5297	10.7191	0.46030	0.0663:0.0:0.8043:0.1294	.	380	Q8NG08	HELB_HUMAN	I	380	ENSP00000247815:V380I	.	V	+	1	0	HELB	64990113	0.999000	0.42202	0.361000	0.25849	0.006000	0.05464	3.922000	0.56462	2.941000	0.99782	0.655000	0.94253	GTC		0.423	HELB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401919.1			55	165	0	0	0	1	0	55	165					A	66703846	G	A	66703846	3	1	269	1	0	0	0	0	1	0	0	0	7045	1377	48	3	1152	3	HELB	12	66703846	Missense_Mutation	SNP	G	TCGA-J4-A67Q-01A-21D-A30E-08	49999638	66703846	67148049	20	12573											
OR4K2	390431	broad.mit.edu	37	chr14	20344654	20344654	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gatatgtctcttgcttctttCgccaccccaaagatgattac	9	14	6	12	1	2	2	0	1	2	1	4	3	2	2	3	0	2	1	3	0	3	5	rs370258306		TCGA-J4-A67Q-01A-21D-A30E-08	TCGA-J4-A67Q-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	282f9df5-390b-4f67-a898-44746b337dc6	59ffc3d4-1659-40c8-89fe-d48475608509	g.chr14:20344654C>T	ENST00000298642.2	+	1	264	c.228C>T	c.(226-228)ttC>ttT	p.F76F		NM_001005501.1	NP_001005501.1	Q8NGD2	OR4K2_HUMAN	olfactory receptor, family 4, subfamily K, member 2	76						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(16)|ovary(2)|skin(9)|upper_aerodigestive_tract(2)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TTGCTTCTTTCGCCACCCCAA	0.418																																						ENST00000298642.2																			0				NS(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(16)|ovary(2)|skin(9)|upper_aerodigestive_tract(2)	43						c.(226-228)ttC>ttT		olfactory receptor, family 4, subfamily K, member 2		C		0,4406		0,0,2203	291	280	284		228	4.1	1	14		284	1,8599		0,1,4299	no	coding-synonymous	OR4K2	NM_001005501.1		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		76/315	20344654	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	390431				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20344654C>T		CCDS32023.1	14q11.2	2013-09-23			ENSG00000165762	ENSG00000165762		"GPCR / Class A : Olfactory receptors"	14728	protein-coding gene	gene with protein product							Standard	NM_001005501		Approved		uc001vwh.1	Q8NGD2	OTTHUMG00000170624	ENST00000298642.2:c.228C>T	14.37:g.20344654C>T							p.F76F	NM_001005501.1	NP_001005501.1	Q8NGD2	OR4K2_HUMAN	Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)	1	264	+	all_cancers(95;0.00108)		76					B2RNK8|Q6IFA5	Silent	SNP	ENST00000298642.2	37	c.228C>T	CCDS32023.1																																																																																				0.418	OR4K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409864.1			52	326	0	0	0	1	0	52	326					T	20344654	C	T	20344654	2	4	269	1	0	0	0	0	0	0	0	1	11072	883	31	2		2	OR4K2	14	20344654	Silent	SNP	C	TCGA-J4-A67Q-01A-21D-A30E-08		20344654	87004886	21	12574											
CCDC88C	440193	broad.mit.edu	37	chr14	91791146	91791146	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ctgacaagtctgcgttcttgGacagctgctccagctcccag	7	10	10	14	1	2	1	0	1	2	0	4	2	4	2	2	1	4	4	2	1	1	2	rs368455174		TCGA-J4-A67Q-01A-21D-A30E-08	TCGA-J4-A67Q-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	282f9df5-390b-4f67-a898-44746b337dc6	59ffc3d4-1659-40c8-89fe-d48475608509	g.chr14:91791146G>A	ENST00000389857.6	-	12	1405	c.1319C>T	c.(1318-1320)tCc>tTc	p.S440F		NM_001080414.3	NP_001073883.2	Q9P219	DAPLE_HUMAN	coiled-coil domain containing 88C	440					protein destabilization (GO:0031648)|protein homooligomerization (GO:0051260)|regulation of protein phosphorylation (GO:0001932)|Wnt signaling pathway (GO:0016055)		PDZ domain binding (GO:0030165)|protein self-association (GO:0043621)			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1)	24		all_cancers(154;0.0468)				TGCGTTCTTGGACAGCTGCTC	0.612																																						ENST00000389857.6																			0				central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1)	24						c.(1318-1320)tCc>tTc		coiled-coil domain containing 88C							102	111	108					14																	91791146		2146	4255	6401	SO:0001583	missense	440193				microtubule cytoskeleton organization|protein destabilization|protein homooligomerization|regulation of protein phosphorylation|Wnt receptor signaling pathway	cytoplasm|insoluble fraction	microtubule binding|PDZ domain binding|protein self-association	g.chr14:91791146G>A		CCDS45151.1	14q32.12	2014-07-30	2007-05-31	2007-05-31		ENSG00000015133			19967	protein-coding gene	gene with protein product	"Dvl-associating protein with a high frequency of leucine residues", "spinocerebellar ataxia 40"	611204	"KIAA1509"	KIAA1509		17185515, 25062847	Standard	NM_001080414		Approved	DAPLE, HkRP2, SCA40	uc010aty.3	Q9P219		ENST00000389857.6:c.1319C>T	14.37:g.91791146G>A	ENSP00000374507:p.Ser440Phe						p.S440F	NM_001080414.3	NP_001073883.2	Q9P219	DAPLE_HUMAN			12	1405	-		all_cancers(154;0.0468)	440					Q69YK1|Q7L1M2|Q86SX7|Q8IYG8	Missense_Mutation	SNP	ENST00000389857.6	37	c.1319C>T	CCDS45151.1	.	.	.	.	.	.	.	.	.	.	G	26.7	4.759958	0.89932	.	.	ENSG00000015133	ENST00000389857	T	0.18338	2.22	5.76	5.76	0.90799	.	0.000000	0.48286	U	0.000188	T	0.45657	0.1353	M	0.76328	2.33	0.80722	D	1	D	0.69078	0.997	D	0.72982	0.979	T	0.36962	-0.9726	10	0.87932	D	0	-23.7719	19.9592	0.97233	0.0:0.0:1.0:0.0	.	440	Q9P219	DAPLE_HUMAN	F	440	ENSP00000374507:S440F	ENSP00000374507:S440F	S	-	2	0	CCDC88C	90860899	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.366000	0.73095	2.728000	0.93425	0.555000	0.69702	TCC		0.612	CCDC88C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411650.1	XM_029353		6	111	0	0	0	1	0	6	111					A	91791146	G	A	91791146	3	1	269	1	0	0	0	0	1	0	0	0	2865	1174	41	3	4843	3	CCDC88C	14	91791146	Missense_Mutation	SNP	G	TCGA-J4-A67Q-01A-21D-A30E-08	71446492	91791146	15558394	22	12575											
DYNC1H1	1778	broad.mit.edu	37	chr14	102452709	102452709	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caacctcggtgtctcggggcGcattttcaccatcgaaagta	9	10	10	12	4	2	0	1	0	1	0	5	1	2	0	2	3	1	2	2	3	3	3			TCGA-J4-A67Q-01A-21D-A30E-08	TCGA-J4-A67Q-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	282f9df5-390b-4f67-a898-44746b337dc6	59ffc3d4-1659-40c8-89fe-d48475608509	g.chr14:102452709G>A	ENST00000360184.4	+	8	2311	c.2147G>A	c.(2146-2148)cGc>cAc	p.R716H		NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	716	Interaction with DYNC1LI2. {ECO:0000250}.|Stem. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|cytoplasmic mRNA processing body assembly (GO:0033962)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic spindle organization (GO:0007052)|stress granule assembly (GO:0034063)|transport (GO:0006810)	centrosome (GO:0005813)|cytoplasmic dynein complex (GO:0005868)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|poly(A) RNA binding (GO:0044822)			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						GTCTCGGGGCGCATTTTCACC	0.502																																						ENST00000360184.4																			0				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						c.(2146-2148)cGc>cAc		dynein, cytoplasmic 1, heavy chain 1							75	62	67					14																	102452709		2203	4300	6503	SO:0001583	missense	1778				cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding	g.chr14:102452709G>A	AB002323	CCDS9966.1	14q32.31	2006-12-21	2005-11-24	2005-11-24		ENSG00000197102		"Cytoplasmic dyneins"	2961	protein-coding gene	gene with protein product		600112	"dynein, cytoplasmic, heavy polypeptide 1"	DNECL, DNCL, DNCH1		16260502, 8666668	Standard	NM_001376		Approved	Dnchc1, HL-3, p22, DHC1	uc001yks.2	Q14204		ENST00000360184.4:c.2147G>A	14.37:g.102452709G>A	ENSP00000348965:p.Arg716His						p.R716H	NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN			8	2311	+			716			Interaction with DYNC1LI2 (By similarity).|Stem (By similarity).		B0I1R0|Q6DKQ7|Q8WU28|Q92814|Q9Y4G5	Missense_Mutation	SNP	ENST00000360184.4	37	c.2147G>A	CCDS9966.1	.	.	.	.	.	.	.	.	.	.	G	17.29	3.351377	0.61183	.	.	ENSG00000197102	ENST00000360184	T	0.56611	0.45	5.71	5.71	0.89125	Dynein heavy chain, domain-1 (1);	0.000000	0.85682	D	0.000000	T	0.58395	0.2119	M	0.75150	2.29	0.80722	D	1	B	0.28350	0.208	B	0.28553	0.091	T	0.58470	-0.7631	10	0.52906	T	0.07	.	19.8442	0.96702	0.0:0.0:1.0:0.0	.	716	Q14204	DYHC1_HUMAN	H	716	ENSP00000348965:R716H	ENSP00000348965:R716H	R	+	2	0	DYNC1H1	101522462	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	7.643000	0.83403	2.696000	0.92011	0.655000	0.94253	CGC		0.502	DYNC1H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414574.1	NM_001376		3	41	0	0	0	1	0	3	41					A	102452709	G	A	102452709	3	1	269	1	0	0	0	0	1	0	0	0	4841	1087	38	1	2177	1	DYNC1H1	14	102452709	Missense_Mutation	SNP	G	TCGA-J4-A67Q-01A-21D-A30E-08	10661563	102452709	4896831	23	12576											
SLC24A5	283652	broad.mit.edu	37	chr15	48414122	48414122	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggtttttcacgagacaggagCgcagagatggaggcatcata	12	8	14	7	2	2	2	2	0	0	2	2	6	2	4	0	4	1	3	0	4	1	3			TCGA-J4-A67Q-01A-21D-A30E-08	TCGA-J4-A67Q-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	282f9df5-390b-4f67-a898-44746b337dc6	59ffc3d4-1659-40c8-89fe-d48475608509	g.chr15:48414122C>T	ENST00000341459.3	+	2	263	c.190C>T	c.(190-192)Cgc>Tgc	p.R64C	SLC24A5_ENST00000482911.2_Missense_Mutation_p.R64C|SLC24A5_ENST00000449382.2_Intron	NM_205850.2	NP_995322.1	Q71RS6	NCKX5_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 5	64					ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|negative regulation of melanin biosynthetic process (GO:0048022)|response to stimulus (GO:0050896)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	calcium, potassium:sodium antiporter activity (GO:0008273)|symporter activity (GO:0015293)	p.R64S(1)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|skin(1)|upper_aerodigestive_tract(1)	27		all_lung(180;0.00217)		all cancers(107;3.29e-10)|GBM - Glioblastoma multiforme(94;7.32e-07)		GAGACAGGAGCGCAGAGATGG	0.413																																						ENST00000482911.2																			1	Substitution - Missense(1)	p.R64S(1)	lung(1)	cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|skin(1)|upper_aerodigestive_tract(1)	27						c.(190-192)Cgc>Tgc		solute carrier family 24 (sodium/potassium/calcium exchanger), member 5							161	158	159					15																	48414122		2198	4297	6495	SO:0001583	missense	283652				response to stimulus	integral to membrane|melanosome|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity	g.chr15:48414122C>T	AF348468	CCDS10128.1	15q21.1	2014-01-28	2013-07-18		ENSG00000188467	ENSG00000188467		"Solute carriers"	20611	protein-coding gene	gene with protein product	"oculocutaneous albinism 6 (autosomal recessive)"	609802	"solute carrier family 24, member 5"			23364476	Standard	XM_005254308		Approved	JSX, OCA6	uc001zwe.3	Q71RS6	OTTHUMG00000131494	ENST00000341459.3:c.190C>T	15.37:g.48414122C>T	ENSP00000341550:p.Arg64Cys					SLC24A5_ENST00000341459.3_Missense_Mutation_p.R64C|SLC24A5_ENST00000449382.2_Intron	p.R64C			Q71RS6	NCKX5_HUMAN		all cancers(107;3.29e-10)|GBM - Glioblastoma multiforme(94;7.32e-07)	2	231	+		all_lung(180;0.00217)	64					A5X8Z8|A5X8Z9|Q14CT4|Q6DKH3	Missense_Mutation	SNP	ENST00000341459.3	37	c.190C>T	CCDS10128.1	.	.	.	.	.	.	.	.	.	.	C	17.53	3.411872	0.62511	.	.	ENSG00000188467	ENST00000341459	T	0.78481	-1.18	5.73	3.66	0.41972	.	0.097810	0.64402	D	0.000002	T	0.81044	0.4741	M	0.68952	2.095	0.23016	N	0.998422	D;D	0.76494	0.971;0.999	B;P	0.53689	0.333;0.732	T	0.73363	-0.4006	10	0.72032	D	0.01	.	10.4283	0.44391	0.4392:0.4468:0.114:0.0	.	64;64	Q71RS6;A5X8Z8	NCKX5_HUMAN;.	C	64	ENSP00000341550:R64C	ENSP00000341550:R64C	R	+	1	0	SLC24A5	46201414	0.993000	0.37304	0.098000	0.21074	0.914000	0.54420	0.918000	0.28678	0.685000	0.31468	0.655000	0.94253	CGC		0.413	SLC24A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254340.2	NM_205850		4	107	0	0	0	1	0	4	107					T	48414122	C	T	48414122	3	4	269	1	0	0	0	0	1	0	0	0	14469	768	27	1	196	1	SLC24A5	15	48414122	Missense_Mutation	SNP	C	TCGA-J4-A67Q-01A-21D-A30E-08		48414122	54117270	24	12577											
RAB11FIP3	9727	broad.mit.edu	37	chr16	570797	570797	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tacatcgacaggatcatcgtGgccatcatggagaccaaccc	12	7	9	13	2	2	1	2	0	0	1	4	4	2	2	3	3	2	0	3	3	2	1			TCGA-J4-A67Q-01A-21D-A30E-08	TCGA-J4-A67Q-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	282f9df5-390b-4f67-a898-44746b337dc6	59ffc3d4-1659-40c8-89fe-d48475608509	g.chr16:570797G>A	ENST00000262305.4	+	14	2617	c.2229G>A	c.(2227-2229)gtG>gtA	p.V743V	RAB11FIP3_ENST00000457159.1_Silent_p.V788V|RAB11FIP3_ENST00000450428.1_Silent_p.V447V	NM_014700.3	NP_055515.1	O75154	RFIP3_HUMAN	RAB11 family interacting protein 3 (class II)	743	FIP-RBD. {ECO:0000255|PROSITE- ProRule:PRU00844}.				cytokinesis (GO:0000910)|endocytic recycling (GO:0032456)|vesicle-mediated transport (GO:0016192)	centrosome (GO:0005813)|cleavage furrow (GO:0032154)|endosome (GO:0005768)|intercellular bridge (GO:0045171)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|midbody (GO:0030496)|nucleus (GO:0005634)|recycling endosome (GO:0055037)	ADP-ribosylation factor binding (GO:0030306)|calcium ion binding (GO:0005509)|protein homodimerization activity (GO:0042803)|Rab GTPase binding (GO:0017137)			breast(1)|endometrium(2)|kidney(3)|lung(5)|upper_aerodigestive_tract(1)	12		Hepatocellular(16;0.0218)				GGATCATCGTGGCCATCATGG	0.577																																					Melanoma(160;2366 2595 4474 8099)	ENST00000262305.4																			0				breast(1)|endometrium(2)|kidney(3)|lung(5)|upper_aerodigestive_tract(1)	12						c.(2227-2229)gtG>gtA		RAB11 family interacting protein 3 (class II)							164	130	142					16																	570797		2201	4300	6501	SO:0001819	synonymous_variant	9727				cell cycle|cytokinesis|endocytic recycling|protein transport	centrosome|cleavage furrow|midbody|recycling endosome membrane	ADP-ribosylation factor binding|calcium ion binding|protein homodimerization activity|Rab GTPase binding	g.chr16:570797G>A	AB014565	CCDS32351.1, CCDS45364.1	16p13.3	2013-01-10			ENSG00000090565	ENSG00000090565		"EF-hand domain containing"	17224	protein-coding gene	gene with protein product		608738				9734811, 11481332	Standard	NM_014700		Approved	KIAA0665, Rab11-FIP3, eferin	uc002chf.3	O75154	OTTHUMG00000047843	ENST00000262305.4:c.2229G>A	16.37:g.570797G>A						RAB11FIP3_ENST00000457159.1_Silent_p.V788V|RAB11FIP3_ENST00000450428.1_Silent_p.V447V	p.V743V	NM_014700.3	NP_055515.1	O75154	RFIP3_HUMAN			14	2617	+		Hepatocellular(16;0.0218)	743			FIP-RBD.		B0QYI8|B0QYT8|B1AHQ0|B4DEI7|B4DZR6|Q4VXV7|Q7Z5E9|Q9H155|Q9H1G0|Q9NUI0	Silent	SNP	ENST00000262305.4	37	c.2229G>A	CCDS32351.1																																																																																				0.577	RAB11FIP3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000109066.4	NM_014700		21	61	0	0	0	1	0	21	61					A	570797	G	A	570797	2	1	269	1	0	0	0	0	0	0	0	1	12895	1335	47	3		3	RAB11FIP3	16	570797	Silent	SNP	G	TCGA-J4-A67Q-01A-21D-A30E-08		570797	89783956	25	12578											
FAM96B	51647	broad.mit.edu	37	chr16	66967968	66967968	+	Splice_Site	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcattgatggagcgaatcagAtgtgggaagtgaaggaaaag	15	8	15	3	1	2	3	2	2	0	1	2	7	2	6	0	3	1	0	0	3	5	1			TCGA-J4-A67Q-01A-21D-A30E-08	TCGA-J4-A67Q-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	282f9df5-390b-4f67-a898-44746b337dc6	59ffc3d4-1659-40c8-89fe-d48475608509	g.chr16:66967968A>T	ENST00000422424.2	-	2	179	c.144T>A	c.(142-144)gaT>gaA	p.D48E	CES2_ENST00000417689.1_5'Flank|CES2_ENST00000317091.4_5'Flank	NM_016062.3	NP_057146.1	Q9Y3D0	MIP18_HUMAN	family with sequence similarity 96, member B	48					chromosome segregation (GO:0007059)|small molecule metabolic process (GO:0044281)	CIA complex (GO:0097361)|cytoplasm (GO:0005737)|MMXD complex (GO:0071817)|nucleus (GO:0005634)|spindle (GO:0005819)				kidney(1)	1		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0862)|Epithelial(162;0.198)		AGCGAATCAGATGTGGGAAGT	0.582																																						ENST00000422424.2																			0				kidney(1)	1						c.e2-1		family with sequence similarity 96, member B							68	73	71					16																	66967968		2086	4208	6294	SO:0001630	splice_region_variant	51647				chromosome segregation	cytoplasm|MMXD complex|nucleus	protein binding	g.chr16:66967968A>T		CCDS45506.1	16q22.1	2014-01-16			ENSG00000166595	ENSG00000166595			24261	protein-coding gene	gene with protein product		614778				11042152, 10810093, 23891004	Standard	NM_016062		Approved	CGI-128	uc021tjy.2	Q9Y3D0	OTTHUMG00000175408	ENST00000422424.2:c.143-1T>A	16.37:g.66967968A>T							p.D48_splice	NM_016062.3	NP_057146.1	Q9Y3D0	MIP18_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0862)|Epithelial(162;0.198)	2	179	-		Ovarian(137;0.192)	48						Splice_Site	SNP	ENST00000422424.2	37	c.142_splice	CCDS45506.1	.	.	.	.	.	.	.	.	.	.	A	26.1	4.705630	0.89018	.	.	ENSG00000166595	ENST00000422424	.	.	.	5.3	4.18	0.49190	.	.	.	.	.	T	0.61986	0.2391	L	0.60455	1.87	0.51482	D	0.999921	.	.	.	.	.	.	T	0.60505	-0.7250	6	0.38643	T	0.18	.	10.0472	0.42195	0.9097:0.0:0.0903:0.0	.	.	.	.	E	48	.	ENSP00000387471:D48E	D	-	3	2	FAM96B	65525469	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	4.513000	0.60476	2.225000	0.72522	0.460000	0.39030	GAT		0.582	FAM96B-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000429890.1	NM_016062	Missense_Mutation	6	22	0	0	0	1	0	6	22					T	66967968	A	T	66967968	5	4	269	1	0	0	0	0	0	0	1	0	5655	347	12	5	363	5	FAM96B	16	66967968	Splice_Site	SNP	A	TCGA-J4-A67Q-01A-21D-A30E-08	66397171	66967968	23386785	26	12579											
DEF8	54849	broad.mit.edu	37	chr16	90028248	90028248	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atccctgcacgcgttgtacaCaactgggactttgagcctcg	8	10	10	13	3	0	1	0	1	0	0	2	2	1	2	2	1	4	3	2	1	2	3			TCGA-J4-A67Q-01A-21D-A30E-08	TCGA-J4-A67Q-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	282f9df5-390b-4f67-a898-44746b337dc6	59ffc3d4-1659-40c8-89fe-d48475608509	g.chr16:90028248C>G	ENST00000268676.7	+	8	1055	c.966C>G	c.(964-966)caC>caG	p.H322Q	DEF8_ENST00000563795.1_Missense_Mutation_p.H261Q|DEF8_ENST00000567874.1_Missense_Mutation_p.H201Q|DEF8_ENST00000569453.1_Missense_Mutation_p.H261Q|DEF8_ENST00000563594.1_Missense_Mutation_p.H261Q|DEF8_ENST00000563848.1_3'UTR|DEF8_ENST00000570182.1_Missense_Mutation_p.H251Q	NM_207514.2	NP_997397.1	Q6ZN54	DEFI8_HUMAN	differentially expressed in FDCP 8 homolog (mouse)	322					intracellular signal transduction (GO:0035556)		zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	12		all_cancers(9;7.59e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.0019)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0274)		GCGTTGTACACAACTGGGACT	0.637																																						ENST00000563594.1																			0				central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	12						c.(781-783)caC>caG		differentially expressed in FDCP 8 homolog (mouse)							53	48	50					16																	90028248		2198	4300	6498	SO:0001583	missense	54849				intracellular signal transduction		zinc ion binding	g.chr16:90028248C>G	AK131370	CCDS10989.1, CCDS45555.1, CCDS58493.1, CCDS58494.1, CCDS58495.1, CCDS58496.1	16q24.3	2011-01-31			ENSG00000140995	ENSG00000140995			25969	protein-coding gene	gene with protein product						12477932	Standard	NM_207514		Approved	FLJ20186	uc002fpn.2	Q6ZN54	OTTHUMG00000138989	ENST00000268676.7:c.966C>G	16.37:g.90028248C>G	ENSP00000268676:p.His322Gln					DEF8_ENST00000567874.1_Missense_Mutation_p.H201Q|DEF8_ENST00000563795.1_Missense_Mutation_p.H261Q|DEF8_ENST00000569453.1_Missense_Mutation_p.H261Q|DEF8_ENST00000268676.7_Missense_Mutation_p.H322Q|DEF8_ENST00000570182.1_Missense_Mutation_p.H251Q|DEF8_ENST00000563848.1_3'UTR	p.H261Q	NM_001242818.1|NM_001242819.1	NP_001229747.1|NP_001229748.1	Q6ZN54	DEFI8_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0274)	8	1780	+		all_cancers(9;7.59e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.0019)|all_hematologic(23;0.0194)	322					B3KT65|B4DK62|B4E0S9|B7Z3H6|H3BUG7|Q8N8N3|Q9NXL0	Missense_Mutation	SNP	ENST00000268676.7	37	c.783C>G	CCDS10989.1	.	.	.	.	.	.	.	.	.	.	c	14.07	2.426102	0.43020	.	.	ENSG00000140995	ENST00000268676	T	0.47869	0.83	3.38	1.39	0.22231	.	0.069846	0.56097	D	0.000025	T	0.58552	0.2130	L	0.58969	1.84	0.50813	D	0.999894	D;D;D	0.71674	0.994;0.988;0.998	P;P;D	0.70935	0.902;0.867;0.971	T	0.58951	-0.7545	10	0.59425	D	0.04	-18.37	9.333	0.38034	0.0:0.802:0.0:0.198	.	261;251;322	Q6ZN54-5;Q6ZN54-3;Q6ZN54	.;.;DEFI8_HUMAN	Q	322	ENSP00000268676:H322Q	ENSP00000268676:H322Q	H	+	3	2	DEF8	88555749	1.000000	0.71417	0.995000	0.50966	0.470000	0.32858	2.012000	0.40932	0.771000	0.33359	-0.348000	0.07805	CAC		0.637	DEF8-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000272878.1	NM_207514		3	56	0	0	0	1	0	3	56					G	90028248	C	G	90028248	3	3	269	1	0	0	0	0	1	0	0	0	4387	477	17	5	1072	5	DEF8	16	90028248	Missense_Mutation	SNP	C	TCGA-J4-A67Q-01A-21D-A30E-08	23060280	90028248	326505	27	12580											
HOXB13	10481	broad.mit.edu	37	chr17	46805666	46805666	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcctgggcacagggtttcAgcgagctccgggacactcgg	6	7	15	13	3	1	0	1	0	0	0	3	2	2	1	2	4	3	3	2	4	0	1			TCGA-J4-A67Q-01A-21D-A30E-08	TCGA-J4-A67Q-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	282f9df5-390b-4f67-a898-44746b337dc6	59ffc3d4-1659-40c8-89fe-d48475608509	g.chr17:46805666A>G	ENST00000290295.7	-	1	874	c.290T>C	c.(289-291)cTg>cCg	p.L97P	PRAC2_ENST00000422730.2_RNA	NM_006361.5	NP_006352.2	Q92826	HXB13_HUMAN	homeobox B13	97					angiogenesis (GO:0001525)|epidermis development (GO:0008544)|epithelial cell maturation involved in prostate gland development (GO:0060743)|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis (GO:0060527)|regulation of growth (GO:0040008)|regulation of transcription, DNA-templated (GO:0006355)|response to testosterone (GO:0033574)|response to wounding (GO:0009611)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	sequence-specific DNA binding (GO:0043565)			endometrium(2)|kidney(2)|lung(6)|prostate(1)	11						ACAGGGTTTCAGCGAGCTCCG	0.672																																						ENST00000290295.7																			0				endometrium(2)|kidney(2)|lung(6)|prostate(1)	11						c.(289-291)cTg>cCg		homeobox B13							46	57	53					17																	46805666		2203	4300	6503	SO:0001583	missense	10481				angiogenesis|epidermis development|response to wounding		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr17:46805666A>G	U57052	CCDS11536.1	17q21.32	2014-09-17	2005-12-22		ENSG00000159184	ENSG00000159184		"Homeoboxes / ANTP class : HOXL subclass"	5112	protein-coding gene	gene with protein product		604607	"homeo box B13"			8756292, 9665387	Standard	NM_006361		Approved		uc002ioa.3	Q92826	OTTHUMG00000159900	ENST00000290295.7:c.290T>C	17.37:g.46805666A>G	ENSP00000290295:p.Leu97Pro						p.L97P	NM_006361.5	NP_006352.2	Q92826	HXB13_HUMAN			1	874	-			97					B2R878|Q96QM4|Q99810	Missense_Mutation	SNP	ENST00000290295.7	37	c.290T>C	CCDS11536.1	.	.	.	.	.	.	.	.	.	.	A	19.26	3.792771	0.70452	.	.	ENSG00000159184	ENST00000290295	T	0.46819	0.86	4.55	4.55	0.56014	.	0.000000	0.64402	D	0.000002	T	0.63414	0.2509	M	0.64997	1.995	0.80722	D	1	D	0.89917	1.0	D	0.76071	0.987	T	0.63060	-0.6721	10	0.39692	T	0.17	.	12.8765	0.57994	1.0:0.0:0.0:0.0	.	97	Q92826	HXB13_HUMAN	P	97	ENSP00000290295:L97P	ENSP00000290295:L97P	L	-	2	0	HOXB13	44160665	1.000000	0.71417	1.000000	0.80357	0.888000	0.51559	4.650000	0.61440	1.904000	0.55121	0.379000	0.24179	CTG		0.672	HOXB13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358087.3	NM_006361		20	127	0	0	0	1	0	20	127					G	46805666	A	G	46805666	3	3	269	1	0	0	0	0	1	0	0	0	7300	188	7	4	572	4	HOXB13	17	46805666	Missense_Mutation	SNP	A	TCGA-J4-A67Q-01A-21D-A30E-08		46805666	34389544	28	12581											
ALPK2	115701	broad.mit.edu	37	chr18	56246844	56246844	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	accataggcccagcgtcaccCgacacccgagacccacaacc	12	2	7	20	3	1	1	1	0	0	1	1	3	1	1	6	1	2	0	6	1	2	1	rs78302914	byFrequency	TCGA-J4-A67Q-01A-21D-A30E-08	TCGA-J4-A67Q-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	282f9df5-390b-4f67-a898-44746b337dc6	59ffc3d4-1659-40c8-89fe-d48475608509	g.chr18:56246844C>T	ENST00000361673.3	-	4	1377	c.1164G>A	c.(1162-1164)tcG>tcA	p.S388S	ALPK2_ENST00000587399.1_5'Flank	NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	388						nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						CAGCGTCACCCGACACCCGAG	0.547											OREG0025011	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	c|||	6	0.00119808	0.0045	0	5008	,	,		18677	0		0	False		,,,				2504	0					ENST00000361673.3																			0				NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						c.(1162-1164)tcG>tcA		alpha-kinase 2		T		10,4396	16.8+/-37.8	0,10,2193	100	92	95		1164	-10.6	0	18	dbSNP_131	95	0,8600		0,0,4300	no	coding-synonymous	ALPK2	NM_052947.3		0,10,6493	TT,TC,CC		0.0,0.227,0.0769		388/2171	56246844	10,12996	2203	4300	6503	SO:0001819	synonymous_variant	115701						ATP binding|protein serine/threonine kinase activity	g.chr18:56246844C>T	AY044450	CCDS11966.2	18q21.31	2013-01-11			ENSG00000198796	ENSG00000198796		"Immunoglobulin superfamily / I-set domain containing"	20565	protein-coding gene	gene with protein product	"heart alpha-kinase"					10021370	Standard	NM_052947		Approved	HAK	uc002lhj.4	Q86TB3	OTTHUMG00000132755	ENST00000361673.3:c.1164G>A	18.37:g.56246844C>T			OREG0025011	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1014		p.S388S	NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN			4	1377	-			388					Q6ZUX0|Q8NAT5|Q96L95	Silent	SNP	ENST00000361673.3	37	c.1164G>A	CCDS11966.2																																																																																				0.547	ALPK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256126.1	NM_052947		12	69	0	0	0	1	0	12	69					T	56246844	C	T	56246844	2	4	269	1	0	0	0	0	0	0	0	1	545	639	23	2		2	ALPK2	18	56246844	Silent	SNP	C	TCGA-J4-A67Q-01A-21D-A30E-08		56246844	21830404	29	12582											
KRTAP13-3	337960	broad.mit.edu	37	chr21	31798058	31798058	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgttgggcctccagcaggtcTcctgacagcccctatagaga	8	9	11	13	0	1	2	0	1	1	1	3	3	2	2	5	2	2	2	5	2	2	3			TCGA-J4-A67Q-01A-21D-A30E-08	TCGA-J4-A67Q-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	282f9df5-390b-4f67-a898-44746b337dc6	59ffc3d4-1659-40c8-89fe-d48475608509	g.chr21:31798058T>C	ENST00000390690.2	-	1	228	c.173A>G	c.(172-174)gAg>gGg	p.E58G		NM_181622.1	NP_853653.1	Q3SY46	KR133_HUMAN	keratin associated protein 13-3	58	5 X 10 AA approximate repeats.					intermediate filament (GO:0005882)				endometrium(1)|large_intestine(1)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	14						CCAGCAGGTCTCCTGACAGCC	0.582																																						ENST00000390690.2																			0				endometrium(1)|large_intestine(1)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	14						c.(172-174)gAg>gGg		keratin associated protein 13-3							59	66	64					21																	31798058		2203	4300	6503	SO:0001583	missense	337960					intermediate filament		g.chr21:31798058T>C	AP001708	CCDS13591.1	21q22.1	2006-03-13			ENSG00000240432	ENSG00000240432		"Keratin associated proteins"	18925	protein-coding gene	gene with protein product						12359730	Standard	NM_181622		Approved	KAP13.3	uc002yob.1	Q3SY46	OTTHUMG00000057776	ENST00000390690.2:c.173A>G	21.37:g.31798058T>C	ENSP00000375109:p.Glu58Gly						p.E58G	NM_181622.1	NP_853653.1	Q3SY46	KR133_HUMAN			1	228	-			58			5 X 10 AA approximate repeats.		Q3LI78	Missense_Mutation	SNP	ENST00000390690.2	37	c.173A>G	CCDS13591.1	.	.	.	.	.	.	.	.	.	.	-	13.78	2.340256	0.41398	.	.	ENSG00000240432	ENST00000390690;ENST00000448917	T	0.07216	3.21	4.6	4.6	0.57074	.	0.168404	0.27016	U	0.021356	T	0.16896	0.0406	M	0.64170	1.965	0.23063	N	0.998354	P	0.47484	0.896	P	0.51550	0.673	T	0.03325	-1.1048	10	0.66056	D	0.02	-4.602	10.9299	0.47211	0.0:0.0:0.0:1.0	.	58	Q3SY46	KR133_HUMAN	G	58	ENSP00000375109:E58G	ENSP00000375109:E58G	E	-	2	0	KRTAP13-3	30719929	0.986000	0.35501	0.263000	0.24496	0.053000	0.15095	1.886000	0.39688	2.006000	0.58801	0.477000	0.44152	GAG		0.582	KRTAP13-3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128228.2			4	100	0	0	0	1	0	4	100					C	31798058	T	C	31798058	3	2	269	1	0	0	0	0	1	0	0	0	8524	1551	54	4	349	4	KRTAP13-3	21	31798058	Missense_Mutation	SNP	T	TCGA-J4-A67Q-01A-21D-A30E-08		31798058	16331837	30	12583											
SIM2	6493	broad.mit.edu	37	chr21	38114059	38114059	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccaccaagtactaccggctgCtgtccaagcggggcggctgg	7	6	14	14	3	0	0	0	0	0	0	1	0	1	0	4	5	4	4	4	5	4	2			TCGA-J4-A67Q-01A-21D-A30E-08	TCGA-J4-A67Q-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	282f9df5-390b-4f67-a898-44746b337dc6	59ffc3d4-1659-40c8-89fe-d48475608509	g.chr21:38114059C>T	ENST00000290399.6	+	8	1505	c.892C>T	c.(892-894)Ctg>Ttg	p.L298L	SIM2_ENST00000430056.3_Silent_p.L298L	NM_005069.3	NP_005060.1	Q14190	SIM2_HUMAN	single-minded family bHLH transcription factor 2	298	PAC.				cell differentiation (GO:0030154)|embryonic pattern specification (GO:0009880)|lung development (GO:0030324)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(6)|prostate(1)|skin(2)	16						CTACCGGCTGCTGTCCAAGCG	0.627																																						ENST00000290399.6																			0				breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(6)|prostate(1)|skin(2)	16						c.(892-894)Ctg>Ttg		single-minded family bHLH transcription factor 2							51	36	41					21																	38114059		2203	4300	6503	SO:0001819	synonymous_variant	6493				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr21:38114059C>T		CCDS13646.1	21q22.2	2013-10-17	2013-10-17		ENSG00000159263	ENSG00000159263		"Basic helix-loop-helix proteins"	10883	protein-coding gene	gene with protein product	"transcription factor SIM2"	600892	"single-minded (Drosophila) homolog 2", "single-minded homolog 2 (Drosophila)"	SIM		7485157	Standard	NM_009586		Approved	MGC119447, bHLHe15	uc002yvr.2	Q14190	OTTHUMG00000086637	ENST00000290399.6:c.892C>T	21.37:g.38114059C>T						SIM2_ENST00000430056.3_Silent_p.L298L	p.L298L	NM_005069.3	NP_005060.1	Q14190	SIM2_HUMAN			8	1505	+			298			PAC.		O60766|Q15470|Q15471|Q15472|Q15473|Q16532|Q2TBD8	Silent	SNP	ENST00000290399.6	37	c.892C>T	CCDS13646.1	.	.	.	.	.	.	.	.	.	.	C	10.58	1.389776	0.25118	.	.	ENSG00000159263	ENST00000431229	.	.	.	5.25	4.35	0.52113	.	.	.	.	.	T	0.68851	0.3046	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.67673	-0.5610	4	.	.	.	.	14.0921	0.64998	0.0:0.9262:0.0:0.0738	.	.	.	.	V	235	.	.	A	+	2	0	SIM2	37035929	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.544000	0.45761	2.416000	0.81992	0.655000	0.94253	GCT		0.627	SIM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194692.1	NM_009586		3	25	0	0	0	1	0	3	25					T	38114059	C	T	38114059	2	4	269	1	0	0	0	0	0	0	0	1	14324	796	28	3		3	SIM2	21	38114059	Silent	SNP	C	TCGA-J4-A67Q-01A-21D-A30E-08	6316001	38114059	10015836	31	12584											
ZBTB48	3104	broad.mit.edu	37	chr1	6649154	6649154	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggagtccctggcccagggcgGcctggcctcccagctccccg	3	5	14	19	2	0	0	0	0	0	0	3	1	3	1	7	5	1	1	7	5	0	0			TCGA-J4-A67R-01A-21D-A30E-08	TCGA-J4-A67R-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df8a2b1-72de-4a9c-a20d-f659cefe1ed4	ecef180f-ebad-4421-8489-69ff5a12d716	g.chr1:6649154G>A	ENST00000377674.4	+	11	2107	c.1949G>A	c.(1948-1950)gGc>gAc	p.G650D		NM_001278647.1|NM_001278648.1|NM_005341.2	NP_001265576.1|NP_001265577.1|NP_005332.1	P10074	ZBT48_HUMAN	zinc finger and BTB domain containing 48	650					transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|kidney(1)|large_intestine(1)|liver(2)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	11	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;7.39e-28)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156)		Colorectal(212;1.35e-07)|COAD - Colon adenocarcinoma(227;1.36e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|BRCA - Breast invasive adenocarcinoma(304;0.00109)|STAD - Stomach adenocarcinoma(132;0.017)|READ - Rectum adenocarcinoma(331;0.0642)		GCCCAGGGCGGCCTGGCCTCC	0.672																																					Esophageal Squamous(125;1449 1657 4031 29866 49542)	ENST00000377674.4																			0				central_nervous_system(1)|kidney(1)|large_intestine(1)|liver(2)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	11						c.(1948-1950)gGc>gAc		zinc finger and BTB domain containing 48							43	50	48					1																	6649154		2203	4300	6503	SO:0001583	missense	3104					cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr1:6649154G>A	BC013573	CCDS84.1	1p36.3	2013-01-08	2006-09-20	2006-09-20	ENSG00000204859	ENSG00000204859		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	4930	protein-coding gene	gene with protein product		165270	"GLI-Kruppel family member HKR3"	HKR3		2850480, 8661141	Standard	NM_001278647		Approved	ZNF855	uc001anx.3	P10074	OTTHUMG00000001438	ENST00000377674.4:c.1949G>A	1.37:g.6649154G>A	ENSP00000366902:p.Gly650Asp						p.G650D	NM_001278647.1|NM_001278648.1|NM_005341.2	NP_001265576.1|NP_001265577.1|NP_005332.1	P10074	ZBT48_HUMAN		Colorectal(212;1.35e-07)|COAD - Colon adenocarcinoma(227;1.36e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|BRCA - Breast invasive adenocarcinoma(304;0.00109)|STAD - Stomach adenocarcinoma(132;0.017)|READ - Rectum adenocarcinoma(331;0.0642)	11	2107	+	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;7.39e-28)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156)	650					Q5SY19	Missense_Mutation	SNP	ENST00000377674.4	37	c.1949G>A	CCDS84.1	.	.	.	.	.	.	.	.	.	.	G	13.20	2.165703	0.38217	.	.	ENSG00000204859	ENST00000377674	T	0.10477	2.87	5.75	1.33	0.21861	.	1.094580	0.06807	N	0.789692	T	0.07503	0.0189	N	0.14661	0.345	0.09310	N	1	B	0.15473	0.013	B	0.18561	0.022	T	0.40869	-0.9540	10	0.12430	T	0.62	-8.1441	12.7459	0.57281	0.0:0.4921:0.4044:0.1034	.	650	P10074	ZBT48_HUMAN	D	650	ENSP00000366902:G650D	ENSP00000366902:G650D	G	+	2	0	ZBTB48	6571741	0.881000	0.30235	0.432000	0.26747	0.943000	0.58893	3.438000	0.52871	0.382000	0.24878	0.655000	0.94253	GGC		0.672	ZBTB48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004193.1	NM_005341		5	175	0	0	0	1	0	5	175					A	6649154	G	A	6649154	3	1	270	1	0	0	0	0	1	0	0	0	17546	1203	42	3	1987	3	ZBTB48	1	6649154	Missense_Mutation	SNP	G	TCGA-J4-A67R-01A-21D-A30E-08		6649154	242601467	1	12585											
FBXO42	54455	broad.mit.edu	37	chr1	16577790	16577790	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	catccatgggattactactgGaagcgggtttcagatcccaa	11	10	10	10	1	1	1	1	0	0	1	3	3	3	3	2	3	3	1	2	3	4	3			TCGA-J4-A67R-01A-21D-A30E-08	TCGA-J4-A67R-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df8a2b1-72de-4a9c-a20d-f659cefe1ed4	ecef180f-ebad-4421-8489-69ff5a12d716	g.chr1:16577790G>A	ENST00000375592.3	-	10	1745	c.1529C>T	c.(1528-1530)tCc>tTc	p.S510F		NM_018994.1	NP_061867.1	Q6P3S6	FBX42_HUMAN	F-box protein 42	510										autonomic_ganglia(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	26		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00475)|all_lung(284;0.00671)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0193)|Colorectal(212;3.16e-07)|COAD - Colon adenocarcinoma(227;1.46e-05)|BRCA - Breast invasive adenocarcinoma(304;4.37e-05)|Kidney(64;0.000246)|KIRC - Kidney renal clear cell carcinoma(64;0.00336)|STAD - Stomach adenocarcinoma(313;0.0139)|READ - Rectum adenocarcinoma(331;0.0693)		ATTACTACTGGAAGCGGGTTT	0.483																																						ENST00000375592.3																			0				autonomic_ganglia(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	26						c.(1528-1530)tCc>tTc		F-box protein 42							105	86	93					1																	16577790		2203	4300	6503	SO:0001583	missense	54455							g.chr1:16577790G>A	BC063864	CCDS30613.1	1p36.23-p36.11	2008-02-05			ENSG00000037637	ENSG00000037637		"F-boxes /  "other""	29249	protein-coding gene	gene with protein product		609109				10718198	Standard	XM_006710698		Approved	KIAA1332, Fbx42	uc001ayg.3	Q6P3S6	OTTHUMG00000002218	ENST00000375592.3:c.1529C>T	1.37:g.16577790G>A	ENSP00000364742:p.Ser510Phe						p.S510F	NM_018994.1	NP_061867.1	Q6P3S6	FBX42_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0193)|Colorectal(212;3.16e-07)|COAD - Colon adenocarcinoma(227;1.46e-05)|BRCA - Breast invasive adenocarcinoma(304;4.37e-05)|Kidney(64;0.000246)|KIRC - Kidney renal clear cell carcinoma(64;0.00336)|STAD - Stomach adenocarcinoma(313;0.0139)|READ - Rectum adenocarcinoma(331;0.0693)	10	1745	-		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00475)|all_lung(284;0.00671)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)	510					B3KP30|Q5TEU8|Q86XI0|Q8N3N4|Q8N5F8|Q9BRM0|Q9P2L4	Missense_Mutation	SNP	ENST00000375592.3	37	c.1529C>T	CCDS30613.1	.	.	.	.	.	.	.	.	.	.	G	15.57	2.872372	0.51695	.	.	ENSG00000037637	ENST00000375592;ENST00000456164;ENST00000444116	T;T;T	0.52057	3.74;0.68;0.68	5.51	5.51	0.81932	.	0.189141	0.46442	D	0.000286	T	0.49626	0.1568	N	0.08118	0	0.58432	D	0.999998	D	0.61697	0.99	D	0.69142	0.962	T	0.59354	-0.7470	10	0.66056	D	0.02	-15.6528	16.9339	0.86198	0.0:0.0:1.0:0.0	.	510	Q6P3S6	FBX42_HUMAN	F	510;228;228	ENSP00000364742:S510F;ENSP00000415663:S228F;ENSP00000412416:S228F	ENSP00000364742:S510F	S	-	2	0	FBXO42	16450377	1.000000	0.71417	0.906000	0.35671	0.569000	0.35902	5.782000	0.68973	2.763000	0.94921	0.650000	0.86243	TCC		0.483	FBXO42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006285.1			17	161	0	0	0	1	0	17	161					A	16577790	G	A	16577790	3	1	270	1	0	0	0	0	1	0	0	0	5751	1174	41	3	628	3	FBXO42	1	16577790	Missense_Mutation	SNP	G	TCGA-J4-A67R-01A-21D-A30E-08	9928636	16577790	232672831	2	12586											
C1orf173	127254	broad.mit.edu	37	chr1	75107127	75107127	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcatgttattttcaacagacCttcttgtgtgctctccctag	7	16	7	11	0	3	1	1	0	2	1	4	1	3	1	2	0	2	3	2	0	3	6	rs201835185		TCGA-J4-A67R-01A-21D-A30E-08	TCGA-J4-A67R-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df8a2b1-72de-4a9c-a20d-f659cefe1ed4	ecef180f-ebad-4421-8489-69ff5a12d716	g.chr1:75107127C>A	ENST00000326665.5	-	5	550	c.332G>T	c.(331-333)aGg>aTg	p.R111M		NM_001002912.4	NP_001002912.4	Q5RHP9	ERIC3_HUMAN		111										NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						TTCAACAGACCTTCTTGTGTG	0.408																																						ENST00000326665.5																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						c.(331-333)aGg>aTg		chromosome 1 open reading frame 173							128	115	120					1																	75107127		2203	4300	6503	SO:0001583	missense	127254							g.chr1:75107127C>A																												ENST00000326665.5:c.332G>T	1.37:g.75107127C>A	ENSP00000322609:p.Arg111Met						p.R111M	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN			5	550	-			111					Q68DL8|Q6GMR8|Q6ZSF9|Q8ND41	Missense_Mutation	SNP	ENST00000326665.5	37	c.332G>T	CCDS30755.1	.	.	.	.	.	.	.	.	.	.	C	11.13	1.548105	0.27652	.	.	ENSG00000178965	ENST00000326665	T	0.13778	2.56	5.41	3.12	0.35913	.	.	.	.	.	T	0.11965	0.0291	L	0.46157	1.445	0.22639	N	0.99891	D	0.67145	0.996	P	0.59288	0.855	T	0.08006	-1.0743	9	0.56958	D	0.05	-0.0045	9.6434	0.39853	0.0:0.8761:0.0:0.1239	.	111	Q5RHP9	CA173_HUMAN	M	111	ENSP00000322609:R111M	ENSP00000322609:R111M	R	-	2	0	C1orf173	74879715	0.962000	0.33011	0.010000	0.14722	0.042000	0.13812	2.114000	0.41911	0.521000	0.28445	0.557000	0.71058	AGG		0.408	C1orf173-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026516.1			7	105	1	0	8.12818e-05	1	8.50333e-05	7	105					A	75107127	C	A	75107127	3	1	270	1	0	0	0	0	1	0	0	0	2014	681	24	5	4300	5	C1orf173	1	75107127	Missense_Mutation	SNP	C	TCGA-J4-A67R-01A-21D-A30E-08	58529337	75107127	174143494	3	12587											
CD1D	912	broad.mit.edu	37	chr1	158151489	158151489	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	accagggacgtgaaggaattCgccaaaatgctacgcttatc	13	8	10	10	3	0	1	0	1	0	0	2	3	0	3	2	2	2	2	2	2	6	3			TCGA-J4-A67R-01A-21D-A30E-08	TCGA-J4-A67R-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df8a2b1-72de-4a9c-a20d-f659cefe1ed4	ecef180f-ebad-4421-8489-69ff5a12d716	g.chr1:158151489C>T	ENST00000368171.3	+	3	805	c.306C>T	c.(304-306)ttC>ttT	p.F102F		NM_001766.3	NP_001757.1	P15813	CD1D_HUMAN	CD1d molecule	102					antigen processing and presentation, endogenous lipid antigen via MHC class Ib (GO:0048006)|detection of bacterium (GO:0016045)|heterotypic cell-cell adhesion (GO:0034113)|innate immune response (GO:0045087)|positive regulation of innate immune response (GO:0045089)|positive regulation of T cell proliferation (GO:0042102)|T cell selection (GO:0045058)|viral process (GO:0016032)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)	beta-2-microglobulin binding (GO:0030881)|cell adhesion molecule binding (GO:0050839)|exogenous lipid antigen binding (GO:0030884)|histone binding (GO:0042393)|lipid antigen binding (GO:0030882)|receptor activity (GO:0004872)			endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(1)|prostate(3)|urinary_tract(2)	30	all_hematologic(112;0.0378)					TGAAGGAATTCGCCAAAATGC	0.557																																						ENST00000368171.3																			0				endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(1)|prostate(3)|urinary_tract(2)	30						c.(304-306)ttC>ttT		CD1d molecule							52	54	53					1																	158151489		2203	4300	6503	SO:0001819	synonymous_variant	912				antigen processing and presentation, endogenous lipid antigen via MHC class Ib|detection of bacterium|innate immune response|interspecies interaction between organisms|positive regulation of innate immune response|T cell selection	endosome membrane|integral to plasma membrane|lysosomal membrane	beta-2-microglobulin binding|exogenous lipid antigen binding|histone binding	g.chr1:158151489C>T	BC027926	CCDS1173.1	1q23.1	2014-01-14	2006-03-28		ENSG00000158473	ENSG00000158473		"CD molecules", "Immunoglobulin superfamily / C1-set domain containing"	1637	protein-coding gene	gene with protein product		188410	"CD1D antigen, d polypeptide", "CD1d antigen"			2463622	Standard	NM_001766		Approved		uc001frr.3	P15813	OTTHUMG00000022436	ENST00000368171.3:c.306C>T	1.37:g.158151489C>T							p.F102F	NM_001766.3	NP_001757.1	P15813	CD1D_HUMAN			3	805	+	all_hematologic(112;0.0378)		102					D3DVD5|Q5W0J3|Q9UMM3|Q9Y5M4	Silent	SNP	ENST00000368171.3	37	c.306C>T	CCDS1173.1																																																																																				0.557	CD1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058340.1	NM_001766		9	133	0	0	0	1	0	9	133					T	158151489	C	T	158151489	2	4	270	1	0	0	0	0	0	0	0	1	2977	883	31	2		2	CD1D	1	158151489	Silent	SNP	C	TCGA-J4-A67R-01A-21D-A30E-08	83044362	158151489	91099132	4	12588											
ZNF638	27332	broad.mit.edu	37	chr2	71649963	71649963	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gccctggcttgaaaaacagtCcaattgatgaaagtgaggtg	13	9	12	7	0	0	4	0	4	0	0	1	4	1	4	2	2	1	1	2	2	4	2			TCGA-J4-A67R-01A-21D-A30E-08	TCGA-J4-A67R-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df8a2b1-72de-4a9c-a20d-f659cefe1ed4	ecef180f-ebad-4421-8489-69ff5a12d716	g.chr2:71649963C>A	ENST00000409544.1	+	22	3949	c.3319C>A	c.(3319-3321)Cca>Aca	p.P1107T	ZNF638_ENST00000264447.4_Missense_Mutation_p.P1107T|ZNF638_ENST00000355812.3_Intron|ZNF638_ENST00000409407.1_Missense_Mutation_p.P47T	NM_001252612.1	NP_001239541.1	Q14966	ZN638_HUMAN	zinc finger protein 638	1107	Glu-rich.				regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|lung(28)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	63						GAAAAACAGTCCAATTGATGA	0.338																																						ENST00000409544.1																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|lung(28)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	63						c.(3319-3321)Cca>Aca		zinc finger protein 638							56	57	57					2																	71649963		2203	4300	6503	SO:0001583	missense	27332				RNA splicing	cytoplasm|nuclear speck	double-stranded DNA binding|nucleotide binding|RNA binding|zinc ion binding	g.chr2:71649963C>A	D83032	CCDS1917.1	2p13.1	2013-02-12	2004-07-29	2004-07-30	ENSG00000075292	ENSG00000075292		"RNA binding motif (RRM) containing"	17894	protein-coding gene	gene with protein product		614349	"zinc finger, matrin-like"	ZFML		8647861	Standard	NM_014497		Approved	NP220, MGC26130, Zfp638	uc002shy.3	Q14966	OTTHUMG00000129735	ENST00000409544.1:c.3319C>A	2.37:g.71649963C>A	ENSP00000386433:p.Pro1107Thr					ZNF638_ENST00000355812.3_Intron|ZNF638_ENST00000264447.4_Missense_Mutation_p.P1107T|ZNF638_ENST00000409407.1_Missense_Mutation_p.P47T	p.P1107T	NM_001252612.1	NP_001239541.1	Q14966	ZN638_HUMAN			22	3949	+			1107			Glu-rich.		B5MDV1|B7ZLD1|Q53R34|Q5XJ05|Q68DP3|Q6P2H2|Q7Z3T7|Q8NF92|Q8TCA1|Q9H2G1|Q9NP37	Missense_Mutation	SNP	ENST00000409544.1	37	c.3319C>A	CCDS1917.1	.	.	.	.	.	.	.	.	.	.	C	16.87	3.243267	0.58995	.	.	ENSG00000075292	ENST00000394137;ENST00000264447;ENST00000409544;ENST00000409407;ENST00000462695	T;T;T	0.46063	1.46;1.46;0.88	5.32	5.32	0.75619	.	0.000000	0.53938	D	0.000058	T	0.51753	0.1693	L	0.34521	1.04	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.996;0.998;0.996	T	0.36138	-0.9760	10	0.24483	T	0.36	-3.6728	14.8465	0.70264	0.0:1.0:0.0:0.0	.	1107;1107;1107	A8K583;Q14966-3;Q14966	.;.;ZN638_HUMAN	T	686;1107;1107;47;47	ENSP00000264447:P1107T;ENSP00000386433:P1107T;ENSP00000386813:P47T	ENSP00000264447:P1107T	P	+	1	0	ZNF638	71503471	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	4.543000	0.60684	2.646000	0.89796	0.655000	0.94253	CCA		0.338	ZNF638-002	NOVEL	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000327431.1	NM_014497		4	124	1	0	0.217242	1	0.217242	4	124					A	71649963	C	A	71649963	3	1	270	1	0	0	0	0	1	0	0	0	18052	855	30	5	3401	5	ZNF638	2	71649963	Missense_Mutation	SNP	C	TCGA-J4-A67R-01A-21D-A30E-08		71649963	171549410	5	12589											
C2orf55	343990	broad.mit.edu	37	chr2	99413924	99413924	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	aaggtccccctccgcttctgCcgagtgacggtgatccaggg	6	8	13	14	3	1	2	0	2	1	0	4	3	4	2	5	3	1	1	5	3	1	1			TCGA-J4-A67R-01A-21D-A30E-08	TCGA-J4-A67R-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df8a2b1-72de-4a9c-a20d-f659cefe1ed4	ecef180f-ebad-4421-8489-69ff5a12d716	g.chr2:99413924C>T	ENST00000397899.2	-	8	2824	c.2493G>A	c.(2491-2493)cgG>cgA	p.R831R		NM_207362.2	NP_997245.2	Q6NV74	K121L_HUMAN	KIAA1211-like	831								p.R831R(1)									TCCGCTTCTGCCGAGTGACGG	0.612																																						ENST00000397899.2																			1	Substitution - coding silent(1)	p.R831R(1)	lung(1)								c.(2491-2493)cgG>cgA		KIAA1211-like							80	85	84					2																	99413924		2082	4206	6288	SO:0001819	synonymous_variant	343990							g.chr2:99413924C>T	BC068277	CCDS42720.1	2q11.2	2012-08-03	2012-08-03	2012-08-03	ENSG00000196872	ENSG00000196872			33454	protein-coding gene	gene with protein product			"chromosome 2 open reading frame 55"	C2orf55			Standard	NM_207362		Approved	MGC42367	uc002szf.1	Q6NV74	OTTHUMG00000153171	ENST00000397899.2:c.2493G>A	2.37:g.99413924C>T							p.R831R	NM_207362.2	NP_997245.2					8	2824	-									Silent	SNP	ENST00000397899.2	37	c.2493G>A	CCDS42720.1																																																																																				0.612	KIAA1211L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329933.1	NM_207362		5	205	0	0	0	1	0	5	205					T	99413924	C	T	99413924	2	4	270	1	0	0	0	0	0	0	0	1	2176	726	26	3		3	C2orf55	2	99413924	Silent	SNP	C	TCGA-J4-A67R-01A-21D-A30E-08	27763961	99413924	143785449	6	12590											
POTEE	445582	broad.mit.edu	37	chr2	131976470	131976470	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcatgctcagggacactgaCgtgaacaagaaggacaagca	15	5	12	9	1	2	3	2	2	0	1	2	5	2	5	0	2	3	2	0	2	4	0			TCGA-J4-A67R-01A-21D-A30E-08	TCGA-J4-A67R-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df8a2b1-72de-4a9c-a20d-f659cefe1ed4	ecef180f-ebad-4421-8489-69ff5a12d716	g.chr2:131976470C>T	ENST00000356920.5	+	1	589	c.495C>T	c.(493-495)gaC>gaT	p.D165D	POTEE_ENST00000358087.5_Silent_p.D165D|PLEKHB2_ENST00000303908.3_Intron|PLEKHB2_ENST00000404460.1_Intron	NM_001083538.1	NP_001077007.1	Q6S8J3	POTEE_HUMAN	POTE ankyrin domain family, member E	165					retina homeostasis (GO:0001895)|substantia nigra development (GO:0021762)	blood microparticle (GO:0072562)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)											GGGACACTGACGTGAACAAGA	0.592																																						ENST00000356920.5																			0											c.(493-495)gaC>gaT		POTE ankyrin domain family, member E							141	143	143					2																	131976470		2202	4300	6502	SO:0001819	synonymous_variant	445582						ATP binding	g.chr2:131976470C>T	AY462868	CCDS46414.1	2q21.1	2014-04-10	2008-11-26	2008-11-26	ENSG00000188219	ENSG00000188219		"POTE ankyrin domain containing", "Ankyrin repeat domain containing"	33895	protein-coding gene	gene with protein product	"cancer/testis antigen family 104, member 2"	608914	"ANKRD26-like family C, member 1A"	A26C1A			Standard	NM_001083538		Approved	POTE2, POTE-2, A26C1, POTE2gamma, CT104.2	uc002tsn.2	Q6S8J3	OTTHUMG00000186974	ENST00000356920.5:c.495C>T	2.37:g.131976470C>T						PLEKHB2_ENST00000303908.3_Intron|PLEKHB2_ENST00000404460.1_Intron|POTEE_ENST00000358087.5_Silent_p.D165D	p.D165D	NM_001083538.1	NP_001077007.1	Q6S8J3	POTEE_HUMAN			1	589	+			165					Q6S8J4|Q6S8J5|Q6S8J8	Silent	SNP	ENST00000356920.5	37	c.495C>T	CCDS46414.1																																																																																				0.592	POTEE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001083538		16	443	0	0	0	1	0	16	443					T	131976470	C	T	131976470	2	4	270	1	0	0	0	0	0	0	0	1	12264	535	19	1		1	POTEE	2	131976470	Silent	SNP	C	TCGA-J4-A67R-01A-21D-A30E-08	32562546	131976470	111222903	7	12591											
PDHA2	5161	broad.mit.edu	37	chr4	96762205	96762205	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggagtcagttatcgtacaCgagaagaaattcaggaagta	15	9	11	6	2	2	2	2	0	0	2	3	5	2	4	0	2	1	3	0	2	6	4			TCGA-J4-A67R-01A-21D-A30E-08	TCGA-J4-A67R-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df8a2b1-72de-4a9c-a20d-f659cefe1ed4	ecef180f-ebad-4421-8489-69ff5a12d716	g.chr4:96762205C>T	ENST00000295266.4	+	1	967	c.904C>T	c.(904-906)Cga>Tga	p.R302*		NM_005390.4	NP_005381.1	P29803	ODPAT_HUMAN	pyruvate dehydrogenase (lipoamide) alpha 2	302					glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|pyruvate metabolic process (GO:0006090)|tricarboxylic acid cycle (GO:0006099)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	pyruvate dehydrogenase (acetyl-transferring) activity (GO:0004739)			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(23)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	46		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.23e-06)		TTATCGTACACGAGAAGAAAT	0.423																																						ENST00000295266.4																			0				NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(23)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	46						c.(904-906)Cga>Tga		pyruvate dehydrogenase (lipoamide) alpha 2	NADH(DB00157)						94	92	93					4																	96762205		2203	4300	6503	SO:0001587	stop_gained	5161				glycolysis	mitochondrial matrix	pyruvate dehydrogenase (acetyl-transferring) activity	g.chr4:96762205C>T		CCDS3644.1	4q22-q23	2009-11-09			ENSG00000163114	ENSG00000163114	1.2.4.1		8807	protein-coding gene	gene with protein product		179061		PDHAL			Standard	NM_005390		Approved		uc003htr.4	P29803	OTTHUMG00000130990	ENST00000295266.4:c.904C>T	4.37:g.96762205C>T	ENSP00000295266:p.Arg302*						p.R302*	NM_005390.4	NP_005381.1	P29803	ODPAT_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;1.23e-06)	1	967	+		Hepatocellular(203;0.114)	302					B2R9Q3|Q0VDI5|Q4VC02|Q6NXQ1	Nonsense_Mutation	SNP	ENST00000295266.4	37	c.904C>T	CCDS3644.1	.	.	.	.	.	.	.	.	.	.	C	15.94	2.980352	0.53827	.	.	ENSG00000163114	ENST00000295266	.	.	.	4.91	1.04	0.20106	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-10.0511	13.5147	0.61533	0.689:0.311:0.0:0.0	.	.	.	.	X	302	.	ENSP00000295266:R302X	R	+	1	2	PDHA2	96981228	0.937000	0.31787	0.001000	0.08648	0.313000	0.28021	2.006000	0.40874	0.051000	0.15978	-0.366000	0.07423	CGA		0.423	PDHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253608.1			15	136	0	0	0	1	0	15	136					T	96762205	C	T	96762205	4	4	270	1	0	0	0	0	0	1	0	0	11665	528	19	1	906	1	PDHA2	4	96762205	Nonsense_Mutation	SNP	C	TCGA-J4-A67R-01A-21D-A30E-08		96762205	94392071	8	12592											
HADH	3033	broad.mit.edu	37	chr4	108953498	108953498	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aacagacttccaaacgtgtgGtgattctaactcgggtttgg	10	12	11	8	2	1	2	0	1	1	1	3	2	2	2	1	3	3	1	1	3	3	4			TCGA-J4-A67R-01A-21D-A30E-08	TCGA-J4-A67R-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df8a2b1-72de-4a9c-a20d-f659cefe1ed4	ecef180f-ebad-4421-8489-69ff5a12d716	g.chr4:108953498G>A	ENST00000403312.1	+	7	944	c.902G>A	c.(901-903)gGt>gAt	p.G301D	HADH_ENST00000454409.2_Intron|HADH_ENST00000510728.1_Intron|HADH_ENST00000309522.3_Intron|HADH_ENST00000603302.1_Missense_Mutation_p.G242D|HADH_ENST00000505878.1_Intron	NM_001184705.2	NP_001171634.2	P40939	ECHA_HUMAN	hydroxyacyl-CoA dehydrogenase	566					cardiolipin acyl-chain remodeling (GO:0035965)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|glycerophospholipid biosynthetic process (GO:0046474)|phospholipid metabolic process (GO:0006644)|response to drug (GO:0042493)|response to insulin (GO:0032868)|small molecule metabolic process (GO:0044281)	mitochondrial fatty acid beta-oxidation multienzyme complex (GO:0016507)|mitochondrial inner membrane (GO:0005743)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	3-hydroxyacyl-CoA dehydrogenase activity (GO:0003857)|acetyl-CoA C-acetyltransferase activity (GO:0003985)|enoyl-CoA hydratase activity (GO:0004300)|fatty-acyl-CoA binding (GO:0000062)|long-chain-3-hydroxyacyl-CoA dehydrogenase activity (GO:0016509)|long-chain-enoyl-CoA hydratase activity (GO:0016508)|NAD binding (GO:0051287)			endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	15		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000168)		CAAACGTGTGGTGATTCTAAC	0.423																																						ENST00000403312.1																			0				endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	15						c.(901-903)gGt>gAt		hydroxyacyl-CoA dehydrogenase	NADH(DB00157)						285	285	285					4																	108953498		876	1991	2867	SO:0001583	missense	3033				fatty acid beta-oxidation	mitochondrial matrix	3-hydroxyacyl-CoA dehydrogenase activity|NAD+ binding	g.chr4:108953498G>A	X96752	CCDS3678.1, CCDS54790.1	4q22-q26	2012-10-02	2010-04-30		ENSG00000138796	ENSG00000138796	1.1.1.35		4799	protein-coding gene	gene with protein product		601609	"L-3-hydroxyacyl-Coenzyme A dehydrogenase, short chain", "hydroxyacyl-Coenzyme A dehydrogenase"	HADHSC		975867, 16176262	Standard	NM_001184705		Approved	HADH1, SCHAD	uc010ilx.3	Q16836	OTTHUMG00000131810	ENST00000403312.1:c.902G>A	4.37:g.108953498G>A	ENSP00000385638:p.Gly301Asp					HADH_ENST00000603302.1_Missense_Mutation_p.G242D|HADH_ENST00000454409.2_Intron|HADH_ENST00000510728.1_Intron|HADH_ENST00000309522.3_Intron|HADH_ENST00000505878.1_Intron	p.G301D	NM_001184705.2	NP_001171634.2	Q16836	HCDH_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000168)	7	944	+		Hepatocellular(203;0.217)	236					B2R7L4|B4DYP2|Q16679|Q53T69|Q53TA2|Q96GT7|Q9UQC5	Missense_Mutation	SNP	ENST00000403312.1	37	c.902G>A		.	.	.	.	.	.	.	.	.	.	G	4.239	0.043385	0.08196	.	.	ENSG00000138796	ENST00000403312	.	.	.	2.38	0.495	0.16890	.	.	.	.	.	T	0.25082	0.0609	.	.	.	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.18777	-1.0326	7	0.33940	T	0.23	.	4.3022	0.10930	0.3822:0.0:0.6178:0.0	.	301	Q16836-2	.	D	242	.	ENSP00000385638:G242D	G	+	2	0	HADH	109172947	0.000000	0.05858	0.001000	0.08648	0.005000	0.04900	0.187000	0.16998	0.092000	0.17331	0.655000	0.94253	GGT		0.423	HADH-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000254751.3	NM_005327		8	358	0	0	0	1	0	8	358					A	108953498	G	A	108953498	3	1	270	1	0	0	0	0	1	0	0	0	6942	1261	44	3	751	3	HADH	4	108953498	Missense_Mutation	SNP	G	TCGA-J4-A67R-01A-21D-A30E-08	12191293	108953498	82200778	9	12593											
HCN1	348980	broad.mit.edu	37	chr5	45645337	45645337	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccttgaaagtcgtaataaacGcaagagactgagaatttttg	15	11	9	6	2	0	3	0	2	0	2	1	5	0	3	1	0	1	2	1	0	6	5			TCGA-J4-A67R-01A-21D-A30E-08	TCGA-J4-A67R-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df8a2b1-72de-4a9c-a20d-f659cefe1ed4	ecef180f-ebad-4421-8489-69ff5a12d716	g.chr5:45645337G>A	ENST00000303230.4	-	2	856	c.799C>T	c.(799-801)Cgt>Tgt	p.R267C		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	267					apical protein localization (GO:0045176)|cellular response to cAMP (GO:0071320)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|retinal cone cell development (GO:0046549)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|intracellular cAMP activated cation channel activity (GO:0005222)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated sodium channel activity (GO:0005248)			NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						CGTAATAAACGCAAGAGACTG	0.313																																						ENST00000303230.4																			0				NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						c.(799-801)Cgt>Tgt		hyperpolarization activated cyclic nucleotide-gated potassium channel 1							46	46	46					5																	45645337		2203	4300	6503	SO:0001583	missense	348980					integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity	g.chr5:45645337G>A	AF064876	CCDS3952.1	5p12	2011-07-05			ENSG00000164588	ENSG00000164588		"Voltage-gated ion channels / Cyclic nucleotide-regulated channels"	4845	protein-coding gene	gene with protein product		602780		BCNG1		9405696, 9630217, 16382102	Standard	NM_021072		Approved	BCNG-1, HAC-2	uc003jok.3	O60741	OTTHUMG00000131155	ENST00000303230.4:c.799C>T	5.37:g.45645337G>A	ENSP00000307342:p.Arg267Cys						p.R267C	NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN			2	856	-			267						Missense_Mutation	SNP	ENST00000303230.4	37	c.799C>T	CCDS3952.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.980931	0.74474	.	.	ENSG00000164588	ENST00000303230	D	0.98835	-5.17	5.5	5.5	0.81552	Ion transport (1);	0.000000	0.64402	D	0.000012	D	0.99245	0.9737	H	0.94808	3.585	0.80722	D	1	D	0.56746	0.977	P	0.55713	0.782	D	0.99271	1.0893	10	0.87932	D	0	.	19.403	0.94639	0.0:0.0:1.0:0.0	.	267	O60741	HCN1_HUMAN	C	267	ENSP00000307342:R267C	ENSP00000307342:R267C	R	-	1	0	HCN1	45681094	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.405000	0.66351	2.589000	0.87451	0.650000	0.86243	CGT		0.313	HCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253847.1	NM_021072		7	52	0	0	0	1	0	7	52					A	45645337	G	A	45645337	3	1	270	1	0	0	0	0	1	0	0	0	6996	1087	38	1	1901	1	HCN1	5	45645337	Missense_Mutation	SNP	G	TCGA-J4-A67R-01A-21D-A30E-08		45645337	135269923	10	12594											
HK3	3101	broad.mit.edu	37	chr5	176310790	176310790	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccgacaatgaggcctatctcGcaacgggggtcctcatagcc	9	7	11	14	3	2	1	1	1	1	0	4	2	3	1	4	3	2	1	4	3	4	2	rs140261586	byFrequency	TCGA-J4-A67R-01A-21D-A30E-08	TCGA-J4-A67R-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df8a2b1-72de-4a9c-a20d-f659cefe1ed4	ecef180f-ebad-4421-8489-69ff5a12d716	g.chr5:176310790G>A	ENST00000292432.5	-	15	2125	c.2034C>T	c.(2032-2034)tgC>tgT	p.C678C		NM_002115.2	NP_002106.2	P52790	HXK3_HUMAN	hexokinase 3 (white cell)	678	Catalytic.|Hexokinase type-2 2.				carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|cellular glucose homeostasis (GO:0001678)|glucose 6-phosphate metabolic process (GO:0051156)|glucose transport (GO:0015758)|glycolytic process (GO:0006096)|hexose metabolic process (GO:0019318)|hexose transport (GO:0008645)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|protein complex (GO:0043234)	ATP binding (GO:0005524)|fructokinase activity (GO:0008865)|glucokinase activity (GO:0004340)|hexokinase activity (GO:0004396)|hormone binding (GO:0042562)|mannokinase activity (GO:0019158)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47	all_cancers(89;0.000104)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GGCCTATCTCGCAACGGGGGT	0.547													G|||	9	0.00179712	0	0.0029	5008	,	,		20514	0		0.007	False		,,,				2504	0					ENST00000292432.5																			0				breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						c.(2032-2034)tgC>tgT		hexokinase 3 (white cell)		G		3,4403	6.2+/-15.9	0,3,2200	177	143	154		2034	-4.4	0.9	5	dbSNP_134	154	20,8580	15.3+/-51.7	0,20,4280	no	coding-synonymous	HK3	NM_002115.2		0,23,6480	AA,AG,GG		0.2326,0.0681,0.1768		678/924	176310790	23,12983	2203	4300	6503	SO:0001819	synonymous_variant	3101				glucose transport|glycolysis|transmembrane transport	cytosol|membrane	ATP binding|glucokinase activity	g.chr5:176310790G>A		CCDS4407.1	5q35.2	2008-02-05			ENSG00000160883	ENSG00000160883	2.7.1.1		4925	protein-coding gene	gene with protein product		142570				8812439	Standard	NM_002115		Approved		uc003mfa.3	P52790	OTTHUMG00000130855	ENST00000292432.5:c.2034C>T	5.37:g.176310790G>A							p.C678C	NM_002115.2	NP_002106.2	P52790	HXK3_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		15	2125	-	all_cancers(89;0.000104)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	678			Catalytic.		Q8N1E7	Silent	SNP	ENST00000292432.5	37	c.2034C>T	CCDS4407.1																																																																																				0.547	HK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253428.1			6	142	0	0	0	1	0	6	142					A	176310790	G	A	176310790	2	1	270	1	0	0	0	0	0	0	0	1	7192	1079	38	1		1	HK3	5	176310790	Silent	SNP	G	TCGA-J4-A67R-01A-21D-A30E-08	130665453	176310790	4604470	11	12595											
FLT4	2324	broad.mit.edu	37	chr5	180053141	180053141	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagctccaggctgatgttgcGcctcaggccagcagcggagt	7	7	14	13	2	1	1	1	1	0	0	2	2	2	2	3	3	4	4	3	3	0	1			TCGA-J4-A67R-01A-21D-A30E-08	TCGA-J4-A67R-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df8a2b1-72de-4a9c-a20d-f659cefe1ed4	ecef180f-ebad-4421-8489-69ff5a12d716	g.chr5:180053141G>A	ENST00000261937.6	-	9	1306	c.1228C>T	c.(1228-1230)Cgc>Tgc	p.R410C	FLT4_ENST00000502649.1_Missense_Mutation_p.R410C|FLT4_ENST00000393347.3_Missense_Mutation_p.R410C|FLT4_ENST00000424276.2_5'UTR	NM_182925.4	NP_891555.2	P35916	VGFR3_HUMAN	fms-related tyrosine kinase 4	410	Ig-like C2-type 4.				blood vessel morphogenesis (GO:0048514)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|lymph vessel development (GO:0001945)|lymphangiogenesis (GO:0001946)|negative regulation of apoptotic process (GO:0043066)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of JNK cascade (GO:0046330)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of protein kinase C signaling (GO:0090037)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation vascular endothelial growth factor production (GO:0010575)|protein autophosphorylation (GO:0046777)|regulation of blood vessel remodeling (GO:0060312)|sprouting angiogenesis (GO:0002040)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor signaling pathway (GO:0038084)|vasculature development (GO:0001944)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|protein phosphatase binding (GO:0019903)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Axitinib(DB06626)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	CTGATGTTGCGCCTCAGGCCA	0.667																																					Colon(97;1075 1466 27033 27547 35871)	ENST00000261937.6																			0				NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						c.(1228-1230)Cgc>Tgc		fms-related tyrosine kinase 4	Sorafenib(DB00398)|Sunitinib(DB01268)						90	85	86					5																	180053141		2203	4299	6502	SO:0001583	missense	2324				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity	g.chr5:180053141G>A	X68203	CCDS4457.1, CCDS43412.1	5q34-q35	2013-01-29			ENSG00000037280	ENSG00000037280	2.7.10.1	"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	3767	protein-coding gene	gene with protein product		136352				1319394	Standard	NM_002020		Approved	VEGFR3, PCL	uc003mlz.4	P35916	OTTHUMG00000130931	ENST00000261937.6:c.1228C>T	5.37:g.180053141G>A	ENSP00000261937:p.Arg410Cys					FLT4_ENST00000502649.1_Missense_Mutation_p.R410C|FLT4_ENST00000424276.2_5'UTR|FLT4_ENST00000393347.3_Missense_Mutation_p.R410C	p.R410C	NM_182925.4	NP_891555.2	P35916	VGFR3_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	9	1306	-	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	410			Ig-like C2-type 4.		A8K6L4|B5A926|Q16067|Q86W07|Q86W08	Missense_Mutation	SNP	ENST00000261937.6	37	c.1228C>T	CCDS4457.1	.	.	.	.	.	.	.	.	.	.	G	2.798	-0.249756	0.05867	.	.	ENSG00000037280	ENST00000261937;ENST00000393347;ENST00000502649;ENST00000376868	T;T;T	0.13196	2.61;2.61;2.61	4.5	0.343	0.16001	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.11965	0.0291	M	0.66939	2.045	0.09310	N	1	B;B;B	0.31351	0.32;0.077;0.077	B;B;B	0.27170	0.055;0.077;0.077	T	0.34329	-0.9833	9	0.59425	D	0.04	.	0.6293	0.00791	0.2316:0.2078:0.3413:0.2193	.	410;410;410	P35916-3;E9PD35;P35916	.;.;VGFR3_HUMAN	C	410;410;410;220	ENSP00000261937:R410C;ENSP00000377016:R410C;ENSP00000426057:R410C	ENSP00000261937:R410C	R	-	1	0	FLT4	179985747	0.000000	0.05858	0.000000	0.03702	0.042000	0.13812	-1.173000	0.03108	-0.169000	0.10834	-1.073000	0.02249	CGC		0.667	FLT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253527.4			17	197	0	0	0	1	0	17	197					A	180053141	G	A	180053141	3	1	270	1	0	0	0	0	1	0	0	0	5944	1087	38	1	2959	1	FLT4	5	180053141	Missense_Mutation	SNP	G	TCGA-J4-A67R-01A-21D-A30E-08	3742351	180053141	862119	12	12596											
F13A1	2162	broad.mit.edu	37	chr6	6224992	6224992	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcagagctccggtattccaaTagaatgtcaacgcttccagt	11	11	8	11	2	2	2	2	0	0	2	5	2	5	2	3	1	2	3	3	1	5	4			TCGA-J4-A67R-01A-21D-A30E-08	TCGA-J4-A67R-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df8a2b1-72de-4a9c-a20d-f659cefe1ed4	ecef180f-ebad-4421-8489-69ff5a12d716	g.chr6:6224992T>C	ENST00000264870.3	-	7	1165	c.900A>G	c.(898-900)ctA>ctG	p.L300L		NM_000129.3	NP_000120.2	P00488	F13A_HUMAN	coagulation factor XIII, A1 polypeptide	300					blood coagulation (GO:0007596)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|platelet alpha granule lumen (GO:0031093)	metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	62	Ovarian(93;0.0816)	all_hematologic(90;0.152)			L-Glutamine(DB00130)	GGTATTCCAATAGAATGTCAA	0.478																																						ENST00000264870.3																			0				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	62						c.(898-900)ctA>ctG		coagulation factor XIII, A1 polypeptide	L-Glutamine(DB00130)						97	101	100					6																	6224992		2203	4300	6503	SO:0001819	synonymous_variant	2162				peptide cross-linking|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity	g.chr6:6224992T>C	M14539	CCDS4496.1	6p24.2-p23	2014-01-24			ENSG00000124491	ENSG00000124491		"Transglutaminases"	3531	protein-coding gene	gene with protein product		134570		F13A			Standard	NM_000129		Approved		uc003mwv.3	P00488	OTTHUMG00000014186	ENST00000264870.3:c.900A>G	6.37:g.6224992T>C							p.L300L	NM_000129.3	NP_000120.2	P00488	F13A_HUMAN			7	1165	-	Ovarian(93;0.0816)	all_hematologic(90;0.152)	300					Q59HA7|Q8N6X2|Q96P24|Q9BX29	Silent	SNP	ENST00000264870.3	37	c.900A>G	CCDS4496.1	.	.	.	.	.	.	.	.	.	.	T	7.516	0.655656	0.14580	.	.	ENSG00000124491	ENST00000445223	.	.	.	5.51	-8.9	0.00782	.	.	.	.	.	T	0.19805	0.0476	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.47522	-0.9111	4	.	.	.	.	3.3433	0.07126	0.2278:0.3049:0.364:0.1033	.	.	.	.	C	17	.	.	Y	-	2	0	F13A1	6169991	0.000000	0.05858	0.310000	0.25168	0.707000	0.40811	-1.694000	0.01915	-0.829000	0.04268	-0.461000	0.05368	TAT		0.478	F13A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039756.3	NM_000129		5	254	0	0	0	1	0	5	254					C	6224992	T	C	6224992	2	2	270	1	0	0	0	0	0	0	0	1	5340	1393	49	4		4	F13A1	6	6224992	Silent	SNP	T	TCGA-J4-A67R-01A-21D-A30E-08		6224992	164890075	13	12597											
TRA2A	29896	broad.mit.edu	37	chr7	23561395	23561395	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttgatggactacgagatcctGacctgctctccgattttaca	9	13	8	11	2	1	3	0	2	1	1	3	6	2	4	3	1	3	1	3	1	2	4			TCGA-J4-A67R-01A-21D-A30E-08	TCGA-J4-A67R-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df8a2b1-72de-4a9c-a20d-f659cefe1ed4	ecef180f-ebad-4421-8489-69ff5a12d716	g.chr7:23561395G>A	ENST00000297071.4	-	2	317	c.101C>T	c.(100-102)tCa>tTa	p.S34L	TRA2A_ENST00000538367.1_5'UTR|TRA2A_ENST00000474586.1_5'UTR|TRA2A_ENST00000392502.4_5'UTR	NM_013293.3	NP_037425.1	Q13595	TRA2A_HUMAN	transformer 2 alpha homolog (Drosophila)	34	Arg/Ser-rich (RS1 domain).				mRNA splicing, via spliceosome (GO:0000398)	intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	10						ACGAGATCCTGACCTGCTCTC	0.418																																					Pancreas(121;2137 2973 46590)	ENST00000297071.4																			0				endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	10						c.(100-102)tCa>tTa		transformer 2 alpha homolog (Drosophila)							111	106	108					7																	23561395		2203	4300	6503	SO:0001583	missense	29896				nuclear mRNA splicing, via spliceosome	nucleus	nucleotide binding|RNA binding	g.chr7:23561395G>A	U53209	CCDS5383.1, CCDS64609.1, CCDS75569.1	7p15.3	2014-02-12			ENSG00000164548	ENSG00000164548		"RNA binding motif (RRM) containing"	16645	protein-coding gene	gene with protein product		602718				8799144, 9546399	Standard	XM_005249725		Approved	htra-2-alpha, tra2a, AWMS1	uc003swi.3	Q13595	OTTHUMG00000128459	ENST00000297071.4:c.101C>T	7.37:g.23561395G>A	ENSP00000297071:p.Ser34Leu					TRA2A_ENST00000538367.1_5'UTR|TRA2A_ENST00000474586.1_5'UTR|TRA2A_ENST00000392502.4_5'UTR	p.S34L	NM_013293.3	NP_037425.1	Q13595	TRA2A_HUMAN			2	317	-			34			Arg/Ser-rich (RS1 domain).		B4DUA9	Missense_Mutation	SNP	ENST00000297071.4	37	c.101C>T	CCDS5383.1	.	.	.	.	.	.	.	.	.	.	G	18.06	3.538900	0.65085	.	.	ENSG00000164548	ENST00000297071	T	0.51817	0.69	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	T	0.67144	0.2862	M	0.68317	2.08	0.80722	D	1	D	0.54601	0.967	P	0.60789	0.879	T	0.66448	-0.5921	10	0.62326	D	0.03	-4.8862	20.4323	0.99082	0.0:0.0:1.0:0.0	.	34	Q13595	TRA2A_HUMAN	L	34	ENSP00000297071:S34L	ENSP00000297071:S34L	S	-	2	0	TRA2A	23527920	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.574000	0.82434	2.834000	0.97654	0.585000	0.79938	TCA		0.418	TRA2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250257.1	NM_013293		4	140	0	0	0	1	0	4	140					A	23561395	G	A	23561395	3	1	270	1	0	0	0	0	1	0	0	0	16430	1294	45	3	775	3	TRA2A	7	23561395	Missense_Mutation	SNP	G	TCGA-J4-A67R-01A-21D-A30E-08		23561395	135577268	14	12598											
ZNF789	285989	broad.mit.edu	37	chr7	99084225	99084225	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	actttcagaaaagttacataAgtgtaaagaatttgtggaca	17	12	8	4	0	1	2	1	0	0	2	1	3	1	3	0	1	1	2	0	1	7	5			TCGA-J4-A67R-01A-21D-A30E-08	TCGA-J4-A67R-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df8a2b1-72de-4a9c-a20d-f659cefe1ed4	ecef180f-ebad-4421-8489-69ff5a12d716	g.chr7:99084225A>C	ENST00000331410.5	+	5	662	c.392A>C	c.(391-393)aAg>aCg	p.K131T	ZNF789_ENST00000493485.1_Intron|ZNF789_ENST00000448667.1_3'UTR|ZNF789_ENST00000494186.1_Intron	NM_213603.2	NP_998768.2	Q5FWF6	ZN789_HUMAN	zinc finger protein 789	131					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|kidney(2)|large_intestine(4)|lung(2)|ovary(1)	11	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)					AAGTTACATAAGTGTAAAGAA	0.368																																						ENST00000331410.5																			0				endometrium(2)|kidney(2)|large_intestine(4)|lung(2)|ovary(1)	11						c.(391-393)aAg>aCg		zinc finger protein 789							82	84	84					7																	99084225		2203	4300	6503	SO:0001583	missense	285989				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:99084225A>C	AK093141	CCDS34693.1, CCDS34694.1	7q22.1	2013-01-08			ENSG00000198556	ENSG00000198556		"Zinc fingers, C2H2-type", "-"	27801	protein-coding gene	gene with protein product						12477932	Standard	XM_005250281		Approved		uc003uqq.1	Q5FWF6	OTTHUMG00000154601	ENST00000331410.5:c.392A>C	7.37:g.99084225A>C	ENSP00000331927:p.Lys131Thr					ZNF789_ENST00000493485.1_Intron|ZNF789_ENST00000448667.1_3'UTR|ZNF789_ENST00000494186.1_Intron	p.K131T	NM_213603.2	NP_998768.2	Q5FWF6	ZN789_HUMAN			5	662	+	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)		131					A4D282|A6NH61|Q6ZMZ9	Missense_Mutation	SNP	ENST00000331410.5	37	c.392A>C	CCDS34693.1	.	.	.	.	.	.	.	.	.	.	A	7.961	0.746915	0.15710	.	.	ENSG00000198556	ENST00000331410	T	0.05447	3.44	2.45	-0.0298	0.13917	.	.	.	.	.	T	0.05502	0.0145	L	0.48174	1.505	0.09310	N	1	B	0.14438	0.01	B	0.09377	0.004	T	0.40021	-0.9585	9	0.40728	T	0.16	.	2.7155	0.05186	0.5628:0.2773:0.1599:0.0	.	131	Q5FWF6	ZN789_HUMAN	T	131	ENSP00000331927:K131T	ENSP00000331927:K131T	K	+	2	0	ZNF789	98922161	0.000000	0.05858	0.001000	0.08648	0.189000	0.23516	0.286000	0.18902	-0.011000	0.14247	0.528000	0.53228	AAG		0.368	ZNF789-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336266.1	NM_213603		25	161	0	0	0	1	0	25	161					C	99084225	A	C	99084225	3	2	270	1	0	0	0	0	1	0	0	0	18157	72	3	5	448	5	ZNF789	7	99084225	Missense_Mutation	SNP	A	TCGA-J4-A67R-01A-21D-A30E-08	75522830	99084225	60054438	15	12599											
LZTS1	11178	broad.mit.edu	37	chr8	20107496	20107496	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttgccgctcctcccgcagctCggcccgcagccgctccagct	3	7	10	21	5	0	0	0	0	0	0	4	0	3	0	6	1	4	6	6	1	0	1	rs199603808		TCGA-J4-A67R-01A-21D-A30E-08	TCGA-J4-A67R-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df8a2b1-72de-4a9c-a20d-f659cefe1ed4	ecef180f-ebad-4421-8489-69ff5a12d716	g.chr8:20107496C>T	ENST00000381569.1	-	4	1885	c.1528G>A	c.(1528-1530)Gag>Aag	p.E510K	LZTS1_ENST00000265801.6_Missense_Mutation_p.E510K|LZTS1_ENST00000522290.1_Intron			Q9Y250	LZTS1_HUMAN	leucine zipper, putative tumor suppressor 1	510					cell cycle (GO:0007049)|gene expression (GO:0010467)|innate immune response (GO:0045087)|negative regulation of macroautophagy (GO:0016242)|positive regulation of type I interferon production (GO:0032481)|regulation of dendrite morphogenesis (GO:0048814)|regulation of transcription, DNA-templated (GO:0006355)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)	apical plasma membrane (GO:0016324)|cell body (GO:0044297)|cell junction (GO:0030054)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|nucleoplasm (GO:0005654)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(16)|ovary(2)|skin(1)|urinary_tract(1)	29				Colorectal(74;0.0511)|COAD - Colon adenocarcinoma(73;0.207)		TCCCGCAGCTCGGCCCGCAGC	0.701																																						ENST00000381569.1																			0				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(16)|ovary(2)|skin(1)|urinary_tract(1)	29						c.(1528-1530)Gag>Aag		leucine zipper, putative tumor suppressor 1							46	50	49					8																	20107496		2203	4300	6503	SO:0001583	missense	11178				cell cycle|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	cell junction|dendritic spine|Golgi apparatus|nucleolus|nucleoplasm|postsynaptic density|postsynaptic membrane	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr8:20107496C>T	AF123659	CCDS6015.1	8p22	2012-10-05			ENSG00000061337	ENSG00000061337			13861	protein-coding gene	gene with protein product		606551	"F37/Esophageal cancer-related gene-coding leucine-zipper motif"			10097140, 17349584	Standard	NM_021020		Approved	FEZ1	uc003wzr.3	Q9Y250	OTTHUMG00000097027	ENST00000381569.1:c.1528G>A	8.37:g.20107496C>T	ENSP00000370981:p.Glu510Lys					LZTS1_ENST00000265801.6_Missense_Mutation_p.E510K|LZTS1_ENST00000522290.1_Intron	p.E510K			Q9Y250	LZTS1_HUMAN		Colorectal(74;0.0511)|COAD - Colon adenocarcinoma(73;0.207)	4	1885	-			510					D3DSQ6|Q9Y5V7|Q9Y5V8|Q9Y5V9|Q9Y5W0|Q9Y5W1|Q9Y5W2	Missense_Mutation	SNP	ENST00000381569.1	37	c.1528G>A	CCDS6015.1	.	.	.	.	.	.	.	.	.	.	c	26.2	4.713867	0.89112	.	.	ENSG00000061337	ENST00000381569;ENST00000265801	T;T	0.52983	0.64;0.64	4.97	4.1	0.47936	.	0.176391	0.49916	N	0.000128	T	0.51890	0.1701	M	0.83603	2.65	0.58432	D	0.999992	D	0.56746	0.977	B	0.43123	0.409	T	0.59150	-0.7508	10	0.46703	T	0.11	-41.8419	11.9069	0.52717	0.0:0.9145:0.0:0.0855	.	510	Q9Y250	LZTS1_HUMAN	K	510	ENSP00000370981:E510K;ENSP00000265801:E510K	ENSP00000265801:E510K	E	-	1	0	LZTS1	20151776	1.000000	0.71417	0.938000	0.37757	0.940000	0.58332	3.859000	0.55987	1.101000	0.41535	0.556000	0.70494	GAG		0.701	LZTS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214122.1	NM_021020		4	154	0	0	0	1	0	4	154					T	20107496	C	T	20107496	3	4	270	1	0	0	0	0	1	0	0	0	9138	893	31	2	266	2	LZTS1	8	20107496	Missense_Mutation	SNP	C	TCGA-J4-A67R-01A-21D-A30E-08		20107496	126256526	16	12600											
LRRC27	80313	broad.mit.edu	37	chr10	134158049	134158049	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	acctaagacactgccctctgGaattccctcctcagctcgtt	8	11	6	16	1	2	1	1	0	1	1	5	2	4	2	4	1	2	2	4	1	2	3			TCGA-J4-A67R-01A-21D-A30E-08	TCGA-J4-A67R-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df8a2b1-72de-4a9c-a20d-f659cefe1ed4	ecef180f-ebad-4421-8489-69ff5a12d716	g.chr10:134158049G>T	ENST00000368614.3	+	5	553	c.448G>T	c.(448-450)Gaa>Taa	p.E150*	LRRC27_ENST00000368615.3_Nonsense_Mutation_p.E150*|LRRC27_ENST00000356571.4_Missense_Mutation_p.G130V|LRRC27_ENST00000392638.2_Nonsense_Mutation_p.E150*|LRRC27_ENST00000368613.4_Nonsense_Mutation_p.E150*|LRRC27_ENST00000344079.5_Nonsense_Mutation_p.E150*|LRRC27_ENST00000368612.1_Nonsense_Mutation_p.E88*|LRRC27_ENST00000432555.2_Nonsense_Mutation_p.E23*|LRRC27_ENST00000368610.3_Nonsense_Mutation_p.E88*	NM_030626.2	NP_085129.1	Q9C0I9	LRC27_HUMAN	leucine rich repeat containing 27	150										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)	18		all_cancers(35;6.28e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19)		OV - Ovarian serous cystadenocarcinoma(35;9.12e-05)|Epithelial(32;0.000116)|all cancers(32;0.000145)|BRCA - Breast invasive adenocarcinoma(275;0.218)		CTGCCCTCTGGAATTCCCTCC	0.498																																						ENST00000392638.2																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)	18						c.(448-450)Gaa>Taa		leucine rich repeat containing 27							137	130	133					10																	134158049		2203	4300	6503	SO:0001587	stop_gained	80313							g.chr10:134158049G>T	AB051461	CCDS31316.1, CCDS44496.1	10q26.3	2013-09-20			ENSG00000148814	ENSG00000148814			29346	protein-coding gene	gene with protein product						11214970	Standard	NM_030626		Approved	KIAA1674	uc010quw.1	Q9C0I9	OTTHUMG00000019284	ENST00000368614.3:c.448G>T	10.37:g.134158049G>T	ENSP00000357603:p.Glu150*					LRRC27_ENST00000368615.3_Nonsense_Mutation_p.E150*|LRRC27_ENST00000432555.2_Nonsense_Mutation_p.E23*|LRRC27_ENST00000368614.3_Nonsense_Mutation_p.E150*|LRRC27_ENST00000356571.4_Missense_Mutation_p.G130V|LRRC27_ENST00000344079.5_Nonsense_Mutation_p.E150*|LRRC27_ENST00000368610.3_Nonsense_Mutation_p.E88*|LRRC27_ENST00000368613.4_Nonsense_Mutation_p.E150*|LRRC27_ENST00000368612.1_Nonsense_Mutation_p.E88*	p.E150*			Q9C0I9	LRC27_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;9.12e-05)|Epithelial(32;0.000116)|all cancers(32;0.000145)|BRCA - Breast invasive adenocarcinoma(275;0.218)	5	643	+		all_cancers(35;6.28e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19)	150					A6NE72|A6NJB4|A6NKD3|D3DRH0|Q5SZH6|Q5SZH8|Q5SZH9|Q86XT5|Q8N7C8|Q8NA21	Nonsense_Mutation	SNP	ENST00000368614.3	37	c.448G>T	CCDS31316.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	G|G|G	23.0|23.0|23.0	4.360861|4.360861|4.360861	0.82353|0.82353|0.82353	.|.|.	.|.|.	ENSG00000148814|ENSG00000148814|ENSG00000148814	ENST00000368615;ENST00000392638;ENST00000344079;ENST00000368614;ENST00000368613;ENST00000368612;ENST00000368610;ENST00000432555|ENST00000356571|ENST00000450442	.|T|.	.|0.62941|.	.|-0.01|.	5.16|5.16|5.16	4.26|4.26|4.26	0.50523|0.50523|0.50523	.|.|.	0.000000|.|.	0.42821|.|.	D|.|.	0.000656|.|.	.|T|T	.|0.53997|0.53997	.|0.1831|0.1831	.|.|.	.|.|.	.|.|.	0.80722|0.80722|0.80722	A|A|A	1|1|1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|T|T	.|0.63800|0.63800	.|-0.6555|-0.6555	.|5|3	0.39692|0.87932|.	T|D|.	0.17|0|.	-33.6976|-33.6976|-33.6976	10.2559|10.2559|10.2559	0.43397|0.43397|0.43397	0.0928:0.0:0.9072:0.0|0.0928:0.0:0.9072:0.0|0.0928:0.0:0.9072:0.0	.|.|.	.|.|.	.|.|.	.|.|.	X|V|C	150;150;150;150;150;88;88;23|130|101	.|ENSP00000348978:G130V|.	ENSP00000342641:E150X|ENSP00000348978:G130V|.	E|G|W	+|+|+	1|2|3	0|0|0	LRRC27|LRRC27|LRRC27	134008039|134008039|134008039	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	0.997000|0.997000|0.997000	0.53966|0.53966|0.53966	0.353000|0.353000|0.353000	0.29299|0.29299|0.29299	2.740000|2.740000|2.740000	0.47418|0.47418|0.47418	1.311000|1.311000|1.311000	0.45024|0.45024|0.45024	0.655000|0.655000|0.655000	0.94253|0.94253|0.94253	GAA|GGA|TGG		0.498	LRRC27-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051058.2	XM_290462		12	189	1	0	3.07112e-06	1	3.26306e-06	12	189					T	134158049	G	T	134158049	4	4	270	1	0	0	0	0	0	1	0	0	8981	1175	41	5	462	5	LRRC27	10	134158049	Nonsense_Mutation	SNP	G	TCGA-J4-A67R-01A-21D-A30E-08		134158049	1376698	17	12601											
AP2A2	161	broad.mit.edu	37	chr11	977124	977124	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggacagcgtgaagcagagcgCggccctgtgcttgctgcgcc	6	6	16	13	4	0	2	0	1	0	1	0	3	0	3	2	2	6	3	2	2	1	1			TCGA-J4-A67R-01A-21D-A30E-08	TCGA-J4-A67R-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df8a2b1-72de-4a9c-a20d-f659cefe1ed4	ecef180f-ebad-4421-8489-69ff5a12d716	g.chr11:977124C>T	ENST00000448903.2	+	5	644	c.503C>T	c.(502-504)gCg>gTg	p.A168V	AP2A2_ENST00000332231.5_Missense_Mutation_p.A168V|AP2A2_ENST00000534328.1_Missense_Mutation_p.A168V	NM_001242837.1|NM_012305.3	NP_001229766.1|NP_036437.1	O94973	AP2A2_HUMAN	adaptor-related protein complex 2, alpha 2 subunit	168					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon guidance (GO:0007411)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|intracellular protein transport (GO:0006886)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of defense response to virus by virus (GO:0050690)|synaptic transmission (GO:0007268)|viral process (GO:0016032)	clathrin adaptor complex (GO:0030131)|clathrin-coated endocytic vesicle membrane (GO:0030669)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)|protein kinase binding (GO:0019901)|protein transporter activity (GO:0008565)			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(2)	21		all_cancers(49;9.46e-06)|Breast(177;0.00257)|all_epithelial(84;0.0027)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.75e-24)|BRCA - Breast invasive adenocarcinoma(625;5.73e-05)|Lung(200;0.0696)|LUSC - Lung squamous cell carcinoma(625;0.082)		AAGCAGAGCGCGGCCCTGTGC	0.612																																						ENST00000448903.2																			0				breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(2)	21						c.(502-504)gCg>gTg		adaptor-related protein complex 2, alpha 2 subunit							57	67	64					11																	977124		2150	4234	6384	SO:0001583	missense	161				axon guidance|endocytosis|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|viral reproduction	AP-2 adaptor complex|cytosol	lipid binding|protein transporter activity	g.chr11:977124C>T	AB020706	CCDS44512.1, CCDS73234.1	11p15.5	2008-07-18			ENSG00000183020	ENSG00000183020			562	protein-coding gene	gene with protein product	"alpha-adaptin C; Huntingtin interacting protein J", "adaptin, alpha B", "clathrin-associated/assembly/adaptor protein, large, alpha 2"	607242		CLAPA2, ADTAB		9700202, 2564002	Standard	NM_012305		Approved	DKFZP564D1864, HYPJ, KIAA0899, HIP9	uc001lst.2	O94973	OTTHUMG00000165627	ENST00000448903.2:c.503C>T	11.37:g.977124C>T	ENSP00000413234:p.Ala168Val					AP2A2_ENST00000332231.5_Missense_Mutation_p.A168V|AP2A2_ENST00000534328.1_Missense_Mutation_p.A168V	p.A168V	NM_001242837.1|NM_012305.3	NP_001229766.1|NP_036437.1	O94973	AP2A2_HUMAN		all cancers(45;1.75e-24)|BRCA - Breast invasive adenocarcinoma(625;5.73e-05)|Lung(200;0.0696)|LUSC - Lung squamous cell carcinoma(625;0.082)	5	644	+		all_cancers(49;9.46e-06)|Breast(177;0.00257)|all_epithelial(84;0.0027)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)	168					O75403|Q53ET1|Q96SI8	Missense_Mutation	SNP	ENST00000448903.2	37	c.503C>T	CCDS44512.1	.	.	.	.	.	.	.	.	.	.	C	16.89	3.248208	0.59103	.	.	ENSG00000183020	ENST00000525796;ENST00000534328;ENST00000417081;ENST00000448903;ENST00000332231;ENST00000448757;ENST00000531548;ENST00000534485;ENST00000329626	T;T;T;T;T;T	0.61392	0.11;0.11;0.11;0.11;0.11;0.11	2.96	2.05	0.26809	Clathrin/coatomer adaptor, adaptin-like, N-terminal (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.80433	0.4622	H	0.95645	3.7	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.83275	0.996;0.996;0.995	D	0.83729	0.0197	10	0.87932	D	0	-14.1979	10.6704	0.45755	0.0:0.9022:0.0:0.0978	.	61;168;168	Q59FN8;O94973-2;O94973	.;.;AP2A2_HUMAN	V	8;168;168;168;168;168;174;158;41	ENSP00000437228:A8V;ENSP00000436059:A168V;ENSP00000413234:A168V;ENSP00000327694:A168V;ENSP00000433498:A174V;ENSP00000435756:A158V	ENSP00000328024:A41V	A	+	2	0	AP2A2	967124	1.000000	0.71417	0.638000	0.29380	0.083000	0.17756	7.543000	0.82106	0.835000	0.34877	-0.229000	0.12294	GCG		0.612	AP2A2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000385431.2	NM_012305		4	81	0	0	0	1	0	4	81					T	977124	C	T	977124	3	4	270	1	0	0	0	0	1	0	0	0	740	768	27	1	521	1	AP2A2	11	977124	Missense_Mutation	SNP	C	TCGA-J4-A67R-01A-21D-A30E-08		977124	134029392	18	12602											
OR56B1	387748	broad.mit.edu	37	chr11	5758619	5758619	+	Frame_Shift_Del	DEL	C	C	-																															aatgtgttgcacaacatcatCcccccttccctcaaccctac																										TCGA-J4-A67R-01A-21D-A30E-08	TCGA-J4-A67R-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df8a2b1-72de-4a9c-a20d-f659cefe1ed4	ecef180f-ebad-4421-8489-69ff5a12d716	g.chr11:5758619delC	ENST00000317121.3	+	1	939	c.873delC	c.(871-873)atcfs	p.I291fs	TRIM5_ENST00000380027.1_Intron	NM_001005180.2	NP_001005180.1	Q8NGI3	O56B1_HUMAN	olfactory receptor, family 56, subfamily B, member 1	291						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|prostate(1)|skin(1)	13		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.086)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.184)		ACAACATCATCCCCCCTTCCC	0.403																																						ENST00000317121.3																			0				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|prostate(1)|skin(1)	13						c.(871-873)atfs		olfactory receptor, family 56, subfamily B, member 1							290	270	277					11																	5758619		2201	4297	6498	SO:0001589	frameshift_variant	387748				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5758619delC	BK004386	CCDS31395.1	11p15.4	2012-08-09		2004-03-10	ENSG00000181023	ENSG00000181023		"GPCR / Class A : Olfactory receptors"	15245	protein-coding gene	gene with protein product				OR56B1P			Standard	NM_001005180		Approved		uc001mbt.2	Q8NGI3	OTTHUMG00000066891	ENST00000317121.3:c.873delC	11.37:g.5758619delC	ENSP00000322939:p.Ile291fs					TRIM5_ENST00000380027.1_Intron	p.I291fs	NM_001005180.2	NP_001005180.1	Q8NGI3	O56B1_HUMAN		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.184)	1	939	+		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.086)	291					B2RNY6|B3KV42|Q6IF76	Frame_Shift_Del	DEL	ENST00000317121.3	37	c.873delC	CCDS31395.1																																																																																				0.403	OR56B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143354.1	NM_001005180		7	585						7	585	---	---	---	---	-	5758619	C	-	5758619	7	5	270	1	0	1	0	1	0	0	0	0	11137	845	30	0	875	0	OR56B1	11	5758619	Frame_Shift_Del	DEL	C	TCGA-J4-A67R-01A-21D-A30E-08	4781495	5758619	129247897	19	12603											
NUP160	23279	broad.mit.edu	37	chr11	47857211	47857211	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tttgtttcatacctgtcctcGttttggtgcatgcatgtata	6	19	8	8	1	1	0	1	0	0	0	3	0	2	0	2	1	3	5	2	1	3	7			TCGA-J4-A67R-01A-21D-A30E-08	TCGA-J4-A67R-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df8a2b1-72de-4a9c-a20d-f659cefe1ed4	ecef180f-ebad-4421-8489-69ff5a12d716	g.chr11:47857211G>A	ENST00000378460.2	-	7	1139	c.1093C>T	c.(1093-1095)Cga>Tga	p.R365*	NUP160_ENST00000530326.1_Nonsense_Mutation_p.R251*|NUP160_ENST00000528071.1_Nonsense_Mutation_p.R251*	NM_015231.1	NP_056046.1	Q12769	NU160_HUMAN	nucleoporin 160kDa	365					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA export from nucleus (GO:0006406)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)|nuclear pore outer ring (GO:0031080)	nucleocytoplasmic transporter activity (GO:0005487)			NS(1)|biliary_tract(2)|breast(7)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(6)|prostate(2)|skin(2)|urinary_tract(2)	53						ACCTGTCCTCGTTTTGGTGCA	0.448																																						ENST00000378460.2																			0				NS(1)|biliary_tract(2)|breast(7)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(6)|prostate(2)|skin(2)|urinary_tract(2)	53						c.(1093-1095)Cga>Tga		nucleoporin 160kDa							170	154	160					11																	47857211		2201	4298	6499	SO:0001587	stop_gained	23279				carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|Nup107-160 complex	nucleocytoplasmic transporter activity|protein binding	g.chr11:47857211G>A	D83781	CCDS31484.1	11p11.12	2008-07-21	2002-08-29		ENSG00000030066	ENSG00000030066			18017	protein-coding gene	gene with protein product		607614	"nucleoporin 160kD"			11684705	Standard	NM_015231		Approved	KIAA0197, FLJ22583	uc001ngm.3	Q12769	OTTHUMG00000166534	ENST00000378460.2:c.1093C>T	11.37:g.47857211G>A	ENSP00000367721:p.Arg365*					NUP160_ENST00000528071.1_Nonsense_Mutation_p.R251*|NUP160_ENST00000530326.1_Nonsense_Mutation_p.R251*	p.R365*	NM_015231.1	NP_056046.1	Q12769	NU160_HUMAN			7	1139	-			365					B4DYE8|B4E2J9|Q08AD3|Q7Z5X6|Q96GB3|Q9H660	Nonsense_Mutation	SNP	ENST00000378460.2	37	c.1093C>T	CCDS31484.1	.	.	.	.	.	.	.	.	.	.	G	15.28	2.787130	0.49997	.	.	ENSG00000030066	ENST00000378460;ENST00000426372;ENST00000530326;ENST00000528071	.	.	.	5.38	5.38	0.77491	.	0.128159	0.51477	D	0.000083	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.13470	T	0.59	.	19.1316	0.93410	0.0:0.0:1.0:0.0	.	.	.	.	X	365;115;251;251	.	ENSP00000367721:R365X	R	-	1	2	NUP160	47813787	0.912000	0.30974	0.721000	0.30653	0.371000	0.29859	3.309000	0.51903	2.545000	0.85829	0.591000	0.81541	CGA		0.448	NUP160-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390239.2	NM_015231		10	122	0	0	0	1	0	10	122					A	47857211	G	A	47857211	4	1	270	1	0	0	0	0	0	1	0	0	10757	1153	40	1	3337	1	NUP160	11	47857211	Nonsense_Mutation	SNP	G	TCGA-J4-A67R-01A-21D-A30E-08	42098592	47857211	87149305	20	12604											
A2M	2	broad.mit.edu	37	chr12	9243051	9243051	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cactgggacagctaggaaggCgggagaggcttccagctgca	10	5	16	10	1	0	1	0	0	0	1	1	4	1	3	1	5	3	4	1	5	2	2			TCGA-J4-A67R-01A-21D-A30E-08	TCGA-J4-A67R-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df8a2b1-72de-4a9c-a20d-f659cefe1ed4	ecef180f-ebad-4421-8489-69ff5a12d716	g.chr12:9243051C>T	ENST00000318602.7	-	20	2804	c.2497G>A	c.(2497-2499)Gcc>Acc	p.A833T		NM_000014.4	NP_000005	P01023	A2MG_HUMAN	alpha-2-macroglobulin	833					blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of complement activation, lectin pathway (GO:0001869)|negative regulation of endopeptidase activity (GO:0010951)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|stem cell differentiation (GO:0048863)	blood microparticle (GO:0072562)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule lumen (GO:0031093)	calcium-dependent protein binding (GO:0048306)|enzyme binding (GO:0019899)|growth factor binding (GO:0019838)|interleukin-1 binding (GO:0019966)|interleukin-8 binding (GO:0019959)|protease binding (GO:0002020)|receptor binding (GO:0005102)|serine-type endopeptidase inhibitor activity (GO:0004867)|tumor necrosis factor binding (GO:0043120)			breast(1)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(17)|lung(30)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	77					Bacitracin(DB00626)|Becaplermin(DB00102)|Ocriplasmin(DB08888)	GCTAGGAAGGCGGGAGAGGCT	0.532																																						ENST00000318602.7																			0				breast(1)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(17)|lung(30)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	77						c.(2497-2499)Gcc>Acc		alpha-2-macroglobulin	Bacitracin(DB00626)|Becaplermin(DB00102)						82	85	84					12																	9243051		2134	4278	6412	SO:0001583	missense	2				blood coagulation, intrinsic pathway|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|extracellular space|platelet alpha granule lumen	enzyme binding|GTPase activator activity|interleukin-1 binding|interleukin-8 binding|serine-type endopeptidase inhibitor activity|tumor necrosis factor binding	g.chr12:9243051C>T	BX647329, X68728, M11313	CCDS44827.1	12p13.31	2010-02-24			ENSG00000175899	ENSG00000175899			7	protein-coding gene	gene with protein product		103950					Standard	XM_006719056		Approved	FWP007, S863-7, CPAMD5	uc001qvk.1	P01023	OTTHUMG00000150267	ENST00000318602.7:c.2497G>A	12.37:g.9243051C>T	ENSP00000323929:p.Ala833Thr						p.A833T	NM_000014.4	NP_000005.2	P01023	A2MG_HUMAN			20	2804	-			833					Q13677|Q59F47|Q5QTS0|Q68DN2|Q6PIY3|Q6PN97	Missense_Mutation	SNP	ENST00000318602.7	37	c.2497G>A	CCDS44827.1	.	.	.	.	.	.	.	.	.	.	C	6.565	0.472592	0.12461	.	.	ENSG00000175899	ENST00000318602;ENST00000540099	T	0.13538	2.58	5.23	-4.03	0.04021	.	1.487420	0.03674	N	0.244538	T	0.12732	0.0309	L	0.51422	1.61	0.09310	N	1	B	0.27765	0.188	B	0.20184	0.028	T	0.31806	-0.9930	10	0.40728	T	0.16	.	8.161	0.31198	0.0:0.2383:0.3677:0.394	.	833	P01023	A2MG_HUMAN	T	833;848	ENSP00000323929:A833T	ENSP00000323929:A833T	A	-	1	0	A2M	9134318	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-0.391000	0.07323	-0.810000	0.04375	-0.768000	0.03414	GCC		0.532	A2M-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317233.2	NM_000014		12	137	0	0	0	1	0	12	137					T	9243051	C	T	9243051	3	4	270	1	0	0	0	0	1	0	0	0	4	768	27	1	1995	1	A2M	12	9243051	Missense_Mutation	SNP	C	TCGA-J4-A67R-01A-21D-A30E-08		9243051	124608844	21	12605											
CD69	969	broad.mit.edu	37	chr12	9913395	9913395	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caaagagctgttctctgctaCgaaacaattttcagagctca	13	11	7	10	1	3	2	2	0	1	2	4	3	3	2	0	0	5	4	0	0	4	4			TCGA-J4-A67R-01A-21D-A30E-08	TCGA-J4-A67R-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df8a2b1-72de-4a9c-a20d-f659cefe1ed4	ecef180f-ebad-4421-8489-69ff5a12d716	g.chr12:9913395C>T	ENST00000228434.3	-	1	102	c.22G>A	c.(22-24)Gta>Ata	p.V8I	CD69_ENST00000536709.1_Missense_Mutation_p.V8I	NM_001781.2	NP_001772.1	Q07108	CD69_HUMAN	CD69 molecule	8					cellular response to drug (GO:0035690)|signal transduction (GO:0007165)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|transmembrane signaling receptor activity (GO:0004888)			endometrium(1)|large_intestine(3)|lung(4)|pancreas(1)|upper_aerodigestive_tract(1)	10						TTCTCTGCTACGAAACAATTT	0.393													C|||	2	0.000399361	0	0.0029	5008	,	,		-128	0		0	False		,,,				2504	0					ENST00000228434.3																			0				endometrium(1)|large_intestine(3)|lung(4)|pancreas(1)|upper_aerodigestive_tract(1)	10						c.(22-24)Gta>Ata		CD69 molecule							150	136	140					12																	9913395		2203	4300	6503	SO:0001583	missense	969					integral to plasma membrane	sugar binding|transmembrane receptor activity	g.chr12:9913395C>T	Z22576	CCDS8604.1	12p13	2011-08-30	2006-03-28		ENSG00000110848	ENSG00000110848		"C-type lectin domain containing", "CD molecules"	1694	protein-coding gene	gene with protein product		107273	"CD69 antigen (p60, early T-cell activation antigen)"			1612643	Standard	NM_001781		Approved	CLEC2C	uc001qwk.3	Q07108	OTTHUMG00000168481	ENST00000228434.3:c.22G>A	12.37:g.9913395C>T	ENSP00000228434:p.Val8Ile					CD69_ENST00000536709.1_Missense_Mutation_p.V8I	p.V8I	NM_001781.2	NP_001772.1	Q07108	CD69_HUMAN			1	102	-			8						Missense_Mutation	SNP	ENST00000228434.3	37	c.22G>A	CCDS8604.1	.	.	.	.	.	.	.	.	.	.	C	0.005	-2.174561	0.00312	.	.	ENSG00000110848	ENST00000228434;ENST00000536709	T;T	0.01548	5.1;4.78	5.14	-10.3	0.00346	.	1.457910	0.03588	N	0.231416	T	0.00468	0.0015	N	0.00368	-1.59	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.06405	0.002;0.0	T	0.49615	-0.8921	9	.	.	.	-0.2631	3.7687	0.08633	0.1839:0.4305:0.1035:0.2821	.	8;8	B4E0H7;Q07108	.;CD69_HUMAN	I	8	ENSP00000228434:V8I;ENSP00000442597:V8I	.	V	-	1	0	CD69	9804662	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.010000	0.01454	-2.284000	0.00671	-2.070000	0.00385	GTA		0.393	CD69-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399876.1			4	174	0	0	0	1	0	4	174					T	9913395	C	T	9913395	3	4	270	1	0	0	0	0	1	0	0	0	3031	536	19	1	597	1	CD69	12	9913395	Missense_Mutation	SNP	C	TCGA-J4-A67R-01A-21D-A30E-08	670344	9913395	123938500	22	12606											
FAM124A	220108	broad.mit.edu	37	chr13	51825914	51825914	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caccacaccgagcaggtgcaCggccggttcctgccctacct	7	6	10	18	3	0	0	0	0	0	0	1	1	1	0	6	3	4	3	6	3	1	2			TCGA-J4-A67R-01A-21D-A30E-08	TCGA-J4-A67R-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df8a2b1-72de-4a9c-a20d-f659cefe1ed4	ecef180f-ebad-4421-8489-69ff5a12d716	g.chr13:51825914C>T	ENST00000322475.8	+	3	546	c.411C>T	c.(409-411)caC>caT	p.H137H	FAM124A_ENST00000280057.6_Silent_p.H173H	NM_001242312.1	NP_001229241.1	Q86V42	F124A_HUMAN	family with sequence similarity 124A	137										breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|skin(1)	26		Acute lymphoblastic leukemia(7;0.000334)|Breast(56;0.00156)|Prostate(109;0.00538)|Lung NSC(96;0.0216)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;4.25e-07)		AGCAGGTGCACGGCCGGTTCC	0.672																																						ENST00000322475.8																			0				breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|skin(1)	26						c.(409-411)caC>caT		family with sequence similarity 124A							11	10	10					13																	51825914		2190	4271	6461	SO:0001819	synonymous_variant	220108							g.chr13:51825914C>T	AK096364	CCDS9427.1, CCDS55900.1	13q14.3	2006-08-11			ENSG00000150510	ENSG00000150510			26413	protein-coding gene	gene with protein product						12975309	Standard	NM_145019		Approved	FLJ30707	uc001vff.2	Q86V42	OTTHUMG00000016942	ENST00000322475.8:c.411C>T	13.37:g.51825914C>T						FAM124A_ENST00000280057.6_Silent_p.H173H	p.H137H	NM_001242312.1	NP_001229241.1	Q86V42	F124A_HUMAN		GBM - Glioblastoma multiforme(99;4.25e-07)	3	546	+		Acute lymphoblastic leukemia(7;0.000334)|Breast(56;0.00156)|Prostate(109;0.00538)|Lung NSC(96;0.0216)|Hepatocellular(98;0.152)|Glioma(44;0.236)	137					A2A324|Q8N8P9|Q8NE66|Q96NJ9	Silent	SNP	ENST00000322475.8	37	c.411C>T	CCDS55900.1																																																																																				0.672	FAM124A-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045019.3	NM_145019		4	16	0	0	0	1	0	4	16					T	51825914	C	T	51825914	2	4	270	1	0	0	0	0	0	0	0	1	5425	535	19	1		1	FAM124A	13	51825914	Silent	SNP	C	TCGA-J4-A67R-01A-21D-A30E-08		51825914	63343964	23	12607											
OR5AU1	390445	broad.mit.edu	37	chr14	21623156	21623156	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttcttcacatccttgtttctCaaagagtacatgagggggtt	9	15	9	8	0	3	2	2	1	2	1	5	2	4	2	1	2	1	3	1	2	2	6			TCGA-J4-A67R-01A-21D-A30E-08	TCGA-J4-A67R-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df8a2b1-72de-4a9c-a20d-f659cefe1ed4	ecef180f-ebad-4421-8489-69ff5a12d716	g.chr14:21623156C>T	ENST00000304418.3	-	1	1066	c.1029G>A	c.(1027-1029)ttG>ttA	p.L343L		NM_001004731.1	NP_001004731.1	Q8NGC0	O5AU1_HUMAN	olfactory receptor, family 5, subfamily AU, member 1	343						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(12)|pancreas(1)	21	all_cancers(95;0.00238)		Epithelial(56;6.88e-07)|all cancers(55;6.02e-06)	GBM - Glioblastoma multiforme(265;0.0192)		CCTTGTTTCTCAAAGAGTACA	0.463																																						ENST00000304418.3																			0				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(12)|pancreas(1)	21						c.(1027-1029)ttG>ttA		olfactory receptor, family 5, subfamily AU, member 1							83	83	83					14																	21623156		2203	4300	6503	SO:0001819	synonymous_variant	390445				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:21623156C>T	AL157687	CCDS32042.1	14q11.2	2013-09-23			ENSG00000169327	ENSG00000169327		"GPCR / Class A : Olfactory receptors"	15362	protein-coding gene	gene with protein product							Standard	NM_001004731		Approved		uc010tlp.2	Q8NGC0	OTTHUMG00000170753	ENST00000304418.3:c.1029G>A	14.37:g.21623156C>T							p.L343L	NM_001004731.1	NP_001004731.1	Q8NGC0	O5AU1_HUMAN	Epithelial(56;6.88e-07)|all cancers(55;6.02e-06)	GBM - Glioblastoma multiforme(265;0.0192)	1	1066	-	all_cancers(95;0.00238)		343					B2RP78|Q6IEU2|Q96R10	Silent	SNP	ENST00000304418.3	37	c.1029G>A	CCDS32042.1																																																																																				0.463	OR5AU1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410213.1			19	133	0	0	0	1	0	19	133					T	21623156	C	T	21623156	2	4	270	1	0	0	0	0	0	0	0	1	11147	825	29	3		3	OR5AU1	14	21623156	Silent	SNP	C	TCGA-J4-A67R-01A-21D-A30E-08		21623156	85726384	24	12608											
PAX9	5083	broad.mit.edu	37	chr14	37132662	37132662	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tccccggttcggtggccatgCcgcgcacctggccctcctcg	2	8	12	19	5	0	0	0	0	0	0	4	0	2	0	7	4	1	2	7	4	0	1			TCGA-J4-A67R-01A-21D-A30E-08	TCGA-J4-A67R-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df8a2b1-72de-4a9c-a20d-f659cefe1ed4	ecef180f-ebad-4421-8489-69ff5a12d716	g.chr14:37132662C>T	ENST00000361487.6	+	2	790	c.565C>T	c.(565-567)Ccg>Tcg	p.P189S	PAX9_ENST00000554201.1_Missense_Mutation_p.P2S|PAX9_ENST00000402703.2_Missense_Mutation_p.P189S			P55771	PAX9_HUMAN	paired box 9	189	Interaction with KDM5B.				cellular response to growth factor stimulus (GO:0071363)|endoderm development (GO:0007492)|face morphogenesis (GO:0060325)|negative regulation of transcription, DNA-templated (GO:0045892)|odontogenesis (GO:0042476)|regulation of odontogenesis (GO:0042481)	nucleus (GO:0005634)	RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(3)	12	Hepatocellular(127;0.158)|Esophageal squamous(585;0.164)|Breast(36;0.218)		Lung(8;1.12e-09)|LUAD - Lung adenocarcinoma(9;2.16e-07)|Epithelial(34;0.00357)|all cancers(34;0.00998)|LUSC - Lung squamous cell carcinoma(13;0.0189)	GBM - Glioblastoma multiforme(112;0.0181)		GGTGGCCATGCCGCGCACCTG	0.682																																						ENST00000361487.6																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(3)	12						c.(565-567)Ccg>Tcg		paired box 9							32	32	32					14																	37132662		2203	4298	6501	SO:0001583	missense	5083				multicellular organismal development|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	g.chr14:37132662C>T	AJ238381	CCDS9662.1	14q13.3	2007-07-12	2007-07-12		ENSG00000198807	ENSG00000198807		"Paired boxes"	8623	protein-coding gene	gene with protein product		167416	"paired box gene 9"			7981748	Standard	NM_006194		Approved		uc001wty.4	P55771	OTTHUMG00000140251	ENST00000361487.6:c.565C>T	14.37:g.37132662C>T	ENSP00000355245:p.Pro189Ser					PAX9_ENST00000554201.1_Missense_Mutation_p.P2S|PAX9_ENST00000402703.2_Missense_Mutation_p.P189S	p.P189S			P55771	PAX9_HUMAN	Lung(8;1.12e-09)|LUAD - Lung adenocarcinoma(9;2.16e-07)|Epithelial(34;0.00357)|all cancers(34;0.00998)|LUSC - Lung squamous cell carcinoma(13;0.0189)	GBM - Glioblastoma multiforme(112;0.0181)	2	790	+	Hepatocellular(127;0.158)|Esophageal squamous(585;0.164)|Breast(36;0.218)		189			Interaction with KDM5B.		Q99582|Q9UQR4	Missense_Mutation	SNP	ENST00000361487.6	37	c.565C>T	CCDS9662.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.956446	0.73902	.	.	ENSG00000198807	ENST00000402703;ENST00000361487;ENST00000554201	D;D;T	0.98926	-5.24;-5.24;0.82	5.25	5.25	0.73442	.	0.047247	0.85682	D	0.000000	D	0.97129	0.9062	L	0.49350	1.555	0.58432	D	0.999997	P	0.38922	0.651	B	0.35931	0.214	D	0.97324	0.9946	10	0.41790	T	0.15	.	18.8295	0.92132	0.0:1.0:0.0:0.0	.	189	P55771	PAX9_HUMAN	S	189;189;2	ENSP00000384817:P189S;ENSP00000355245:P189S;ENSP00000450434:P2S	ENSP00000355245:P189S	P	+	1	0	PAX9	36202413	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.952000	0.63618	2.445000	0.82738	0.561000	0.74099	CCG		0.682	PAX9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276733.2			4	117	0	0	0	1	0	4	117					T	37132662	C	T	37132662	3	4	270	1	0	0	0	0	1	0	0	0	11486	739	26	3	571	3	PAX9	14	37132662	Missense_Mutation	SNP	C	TCGA-J4-A67R-01A-21D-A30E-08	15509506	37132662	70216878	25	12609											
CYP1A1	1543	broad.mit.edu	37	chr15	75013055	75013055	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcacttaacaccttgtcgatAgcaccatcaggggtgagaaa	13	9	9	10	1	2	1	2	1	0	1	3	3	2	1	2	2	2	1	2	2	3	3			TCGA-J4-A67R-01A-21D-A30E-08	TCGA-J4-A67R-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df8a2b1-72de-4a9c-a20d-f659cefe1ed4	ecef180f-ebad-4421-8489-69ff5a12d716	g.chr15:75013055A>T	ENST00000379727.3	-	7	1512	c.1314T>A	c.(1312-1314)gcT>gcA	p.A438A	CYP1A1_ENST00000395049.4_Silent_p.A409A|CYP1A1_ENST00000395048.2_Silent_p.A438A|CYP1A1_ENST00000567032.1_Silent_p.A438A			P04798	CP1A1_HUMAN	cytochrome P450, family 1, subfamily A, polypeptide 1	438					9-cis-retinoic acid biosynthetic process (GO:0042904)|aging (GO:0007568)|amine metabolic process (GO:0009308)|arachidonic acid metabolic process (GO:0019369)|camera-type eye development (GO:0043010)|cell proliferation (GO:0008283)|cellular lipid metabolic process (GO:0044255)|cellular response to organic cyclic compound (GO:0071407)|coumarin metabolic process (GO:0009804)|dibenzo-p-dioxin catabolic process (GO:0019341)|digestive tract development (GO:0048565)|drug metabolic process (GO:0017144)|embryo development ending in birth or egg hatching (GO:0009792)|epoxygenase P450 pathway (GO:0019373)|flavonoid metabolic process (GO:0009812)|hepatocyte differentiation (GO:0070365)|hydrogen peroxide biosynthetic process (GO:0050665)|insecticide metabolic process (GO:0017143)|maternal process involved in parturition (GO:0060137)|omega-hydroxylase P450 pathway (GO:0097267)|oxidation-reduction process (GO:0055114)|porphyrin-containing compound metabolic process (GO:0006778)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|response to antibiotic (GO:0046677)|response to arsenic-containing substance (GO:0046685)|response to drug (GO:0042493)|response to food (GO:0032094)|response to herbicide (GO:0009635)|response to hyperoxia (GO:0055093)|response to hypoxia (GO:0001666)|response to iron(III) ion (GO:0010041)|response to lipopolysaccharide (GO:0032496)|response to nematode (GO:0009624)|response to virus (GO:0009615)|response to vitamin A (GO:0033189)|response to wounding (GO:0009611)|small molecule metabolic process (GO:0044281)|vitamin D metabolic process (GO:0042359)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|mitochondrion (GO:0005739)	aromatase activity (GO:0070330)|demethylase activity (GO:0032451)|flavonoid 3'-monooxygenase activity (GO:0016711)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxidoreductase activity (GO:0016491)|oxidoreductase activity, acting on diphenols and related substances as donors (GO:0016679)|oxygen binding (GO:0019825)|steroid hydroxylase activity (GO:0008395)|vitamin D 24-hydroxylase activity (GO:0070576)			autonomic_ganglia(1)|breast(2)|endometrium(1)|large_intestine(7)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34					Acetaminophen(DB00316)|Albendazole(DB00518)|Amiodarone(DB01118)|Amlodipine(DB00381)|Amodiaquine(DB00613)|Arsenic trioxide(DB01169)|Azelastine(DB00972)|Benzyl alcohol(DB06770)|Bezafibrate(DB01393)|Bortezomib(DB00188)|Caffeine(DB00201)|Carvedilol(DB01136)|Chloroquine(DB00608)|Chlorzoxazone(DB00356)|Cholecalciferol(DB00169)|Cinnarizine(DB00568)|Clenbuterol(DB01407)|Clobetasol propionate(DB01013)|Clofibrate(DB00636)|Clomifene(DB00882)|Clonidine(DB00575)|Clozapine(DB00363)|Dacarbazine(DB00851)|Dapagliflozin(DB06292)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Debrisoquin(DB04840)|Dexamethasone(DB01234)|Dexmedetomidine(DB00633)|Diclofenac(DB00586)|Dicyclomine(DB00804)|Dronabinol(DB00470)|Erlotinib(DB00530)|Estradiol(DB00783)|Estrone(DB00655)|Ethanol(DB00898)|Flunarizine(DB04841)|Fluorescein(DB00693)|Flutamide(DB00499)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Gefitinib(DB00317)|Granisetron(DB00889)|Haloperidol(DB00502)|Isoprenaline(DB01064)|Itraconazole(DB01167)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lorcaserin(DB04871)|Mebendazole(DB00643)|Melatonin(DB01065)|Menadione(DB00170)|Methoxsalen(DB00553)|Nicotine(DB00184)|Nifedipine(DB01115)|Nitroprusside(DB00325)|Norfloxacin(DB01059)|Omeprazole(DB00338)|Ouabain(DB01092)|Oxaliplatin(DB00526)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Prazosin(DB00457)|Primaquine(DB01087)|Progesterone(DB00396)|Propofol(DB00818)|Propranolol(DB00571)|Pyridoxine(DB00165)|Quinidine(DB00908)|Quinine(DB00468)|Rabeprazole(DB01129)|Riluzole(DB00740)|Sildenafil(DB00203)|Streptozocin(DB00428)|Sulindac(DB00605)|Tamoxifen(DB00675)|Testosterone(DB00624)|Thalidomide(DB01041)|Theophylline(DB00277)|Thiabendazole(DB00730)|Ticlopidine(DB00208)|Toremifene(DB00539)|Tretinoin(DB00755)|Vitamin A(DB00162)|Warfarin(DB00682)	CCTTGTCGATAGCACCATCAG	0.527									Endometrial Cancer, Familial Clustering of;ACTH-independent macronodular adrenal hyperplasia																													ENST00000379727.3																			0				autonomic_ganglia(1)|breast(2)|endometrium(1)|large_intestine(7)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						c.(1312-1314)gcT>gcA		cytochrome P450, family 1, subfamily A, polypeptide 1	Arsenic trioxide(DB01169)|Benzphetamine(DB00865)|Bleomycin(DB00290)|Chlorzoxazone(DB00356)|Dacarbazine(DB00851)|Dactinomycin(DB00970)|Esomeprazole(DB00736)|Estrone(DB00655)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Ginseng(DB01404)|Granisetron(DB00889)|Ketoconazole(DB01026)|Menadione(DB00170)|Picrotoxin(DB00466)|Primaquine(DB01087)|Quinidine(DB00908)|Quinine(DB00468)|Thiabendazole(DB00730)						146	141	143					15																	75013055		2197	4296	6493	SO:0001819	synonymous_variant	1543	Endometrial Cancer, Familial Clustering of;ACTH-independent macronodular adrenal hyperplasia	Familial Cancer Database	;AIMAH, Cushing disease, Adrenal, Familial	cellular lipid metabolic process|drug metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding|vitamin D 24-hydroxylase activity	g.chr15:75013055A>T	BC023019	CCDS10268.1	15q24.1	2007-12-14	2003-01-14		ENSG00000140465	ENSG00000140465	1.14.14.1	"Cytochrome P450s"	2595	protein-coding gene	gene with protein product		108330	"cytochrome P450, subfamily I (aromatic compound-inducible), polypeptide 1"	CYP1		15128046	Standard	NM_000499		Approved	P450DX, P1-450, P450-C, CP11	uc002ayp.4	P04798	OTTHUMG00000142812	ENST00000379727.3:c.1314T>A	15.37:g.75013055A>T						CYP1A1_ENST00000567032.1_Silent_p.A438A|CYP1A1_ENST00000395049.4_Silent_p.A409A|CYP1A1_ENST00000395048.2_Silent_p.A438A	p.A438A			P04798	CP1A1_HUMAN			7	1512	-			438					A4F3V9|A4F3W0|Q53G18	Silent	SNP	ENST00000379727.3	37	c.1314T>A	CCDS10268.1																																																																																				0.527	CYP1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286396.1	NM_000499		6	283	0	0	0	1	0	6	283					T	75013055	A	T	75013055	2	4	270	1	0	0	0	0	0	0	0	1	4149	407	15	5		5	CYP1A1	15	75013055	Silent	SNP	A	TCGA-J4-A67R-01A-21D-A30E-08		75013055	27518337	26	12610											
MT4	84560	broad.mit.edu	37	chr16	56602769	56602769	+	Frame_Shift_Del	DEL	C	C	-																															tcaggctgctgtccctgctgCcccccgggctgtgccaaatg																										TCGA-J4-A67R-01A-21D-A30E-08	TCGA-J4-A67R-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df8a2b1-72de-4a9c-a20d-f659cefe1ed4	ecef180f-ebad-4421-8489-69ff5a12d716	g.chr16:56602769delC	ENST00000219162.3	+	3	194	c.114delC	c.(112-114)tgcfs	p.C38fs		NM_032935.2	NP_116324	P47944	MT4_HUMAN	metallothionein 4	38					cellular metal ion homeostasis (GO:0006875)		metal ion binding (GO:0046872)			ovary(1)|upper_aerodigestive_tract(1)	2						GTCCCTGCTGCCCCCCGGGCT	0.597																																						ENST00000219162.3																			0				ovary(1)|upper_aerodigestive_tract(1)	2						c.(112-114)tgfs		metallothionein 4							113	123	120					16																	56602769		2193	4296	6489	SO:0001589	frameshift_variant	84560					cytoplasm	copper ion binding|zinc ion binding	g.chr16:56602769delC	BC113442	CCDS42165.1	16q13	2014-09-04	2007-01-26		ENSG00000102891	ENSG00000102891		"Metallothioneins"	18705	protein-coding gene	gene with protein product		606206	"metallothionein IV"			8003488	Standard	NM_032935		Approved	MTIV	uc002eje.1	P47944	OTTHUMG00000176863	ENST00000219162.3:c.114delC	16.37:g.56602769delC	ENSP00000219162:p.Cys38fs						p.C38fs	NM_032935.2	NP_116324.1	P47944	MT4_HUMAN			3	194	+			38					Q14DA1	Frame_Shift_Del	DEL	ENST00000219162.3	37	c.114delC	CCDS42165.1																																																																																				0.597	MT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434118.1	NM_032935		8	485						8	485	---	---	---	---	-	56602769	C	-	56602769	7	5	270	1	0	1	0	1	0	0	0	0	9907	747	26	0	124	0	MT4	16	56602769	Frame_Shift_Del	DEL	C	TCGA-J4-A67R-01A-21D-A30E-08		56602769	33751984	27	12611											
TNK1	8711	broad.mit.edu	37	chr17	7286330	7286330	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tttactggcccatccttgagGagcttaatgtcactcggcca	8	12	9	12	1	1	1	1	1	0	0	3	2	2	2	3	3	2	1	3	3	2	4			TCGA-J4-A67R-01A-21D-A30E-08	TCGA-J4-A67R-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df8a2b1-72de-4a9c-a20d-f659cefe1ed4	ecef180f-ebad-4421-8489-69ff5a12d716	g.chr17:7286330G>A	ENST00000576812.1	+	2	454	c.85G>A	c.(85-87)Gag>Aag	p.E29K	TNK1_ENST00000311668.2_Missense_Mutation_p.E29K|TNK1_ENST00000570896.1_Missense_Mutation_p.E29K	NM_001251902.1	NP_001238831.1			tyrosine kinase, non-receptor, 1											central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(2)|pancreas(1)	16		Prostate(122;0.157)				CATCCTTGAGGAGCTTAATGT	0.597																																						ENST00000570896.1																			0				central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(2)|pancreas(1)	16						c.(85-87)Gag>Aag		tyrosine kinase, non-receptor, 1							58	63	61					17																	7286330		2143	4248	6391	SO:0001583	missense	8711				protein autophosphorylation	membrane	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding|signal transducer activity	g.chr17:7286330G>A	U43408	CCDS45602.1, CCDS58510.1	17p13.1	2005-09-22				ENSG00000174292			11940	protein-coding gene	gene with protein product		608076				8632913	Standard	NM_003985		Approved		uc002ggi.4	Q13470		ENST00000576812.1:c.85G>A	17.37:g.7286330G>A	ENSP00000459799:p.Glu29Lys					TNK1_ENST00000576812.1_Missense_Mutation_p.E29K|TNK1_ENST00000311668.2_Missense_Mutation_p.E29K	p.E29K			Q13470	TNK1_HUMAN			3	531	+		Prostate(122;0.157)	29						Missense_Mutation	SNP	ENST00000576812.1	37	c.85G>A	CCDS58510.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.157638	0.78114	.	.	ENSG00000174292	ENST00000311668	T	0.21734	1.99	5.03	3.97	0.46021	.	0.000000	0.50627	D	0.000115	T	0.27169	0.0666	L	0.46157	1.445	0.33731	D	0.618248	D;P	0.56035	0.974;0.956	P;B	0.50659	0.647;0.444	T	0.27434	-1.0074	10	0.45353	T	0.12	.	13.0726	0.59070	0.0:0.1632:0.8368:0.0	.	29;29	Q13470-2;Q13470	.;TNK1_HUMAN	K	29	ENSP00000312309:E29K	ENSP00000312309:E29K	E	+	1	0	TNK1	7227054	1.000000	0.71417	0.998000	0.56505	0.994000	0.84299	4.419000	0.59835	2.723000	0.93209	0.650000	0.86243	GAG		0.597	TNK1-001	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000440832.2	NM_003985		6	100	0	0	0	1	0	6	100					A	7286330	G	A	7286330	3	1	270	1	0	0	0	0	1	0	0	0	16314	1175	41	3	87	3	TNK1	17	7286330	Missense_Mutation	SNP	G	TCGA-J4-A67R-01A-21D-A30E-08		7286330	73908880	28	12612											
NOS2	4843	broad.mit.edu	37	chr17	26094758	26094758	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gaggtccaaaggctgtgagtCctgcacgagcctgtagtggt	8	9	15	9	1	0	1	0	1	0	0	2	3	2	1	3	3	2	3	3	3	2	1			TCGA-J4-A67R-01A-21D-A30E-08	TCGA-J4-A67R-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df8a2b1-72de-4a9c-a20d-f659cefe1ed4	ecef180f-ebad-4421-8489-69ff5a12d716	g.chr17:26094758C>T	ENST00000313735.6	-	18	2373	c.2140G>A	c.(2140-2142)Gac>Aac	p.D714N		NM_000625.4	NP_000616.3	P35228	NOS2_HUMAN	nitric oxide synthase 2, inducible	714					arginine catabolic process (GO:0006527)|blood coagulation (GO:0007596)|cellular response to interferon-gamma (GO:0071346)|cellular response to lipopolysaccharide (GO:0071222)|circadian rhythm (GO:0007623)|defense response to bacterium (GO:0042742)|defense response to Gram-negative bacterium (GO:0050829)|inflammatory response (GO:0006954)|innate immune response in mucosa (GO:0002227)|interaction with host (GO:0051701)|negative regulation of blood pressure (GO:0045776)|negative regulation of gene expression (GO:0010629)|negative regulation of protein catabolic process (GO:0042177)|nitric oxide biosynthetic process (GO:0006809)|nitric oxide mediated signal transduction (GO:0007263)|peptidyl-cysteine S-nitrosylation (GO:0018119)|phagosome maturation (GO:0090382)|positive regulation of guanylate cyclase activity (GO:0031284)|positive regulation of killing of cells of other organism (GO:0051712)|positive regulation of leukocyte mediated cytotoxicity (GO:0001912)|positive regulation of vasodilation (GO:0045909)|regulation of cell proliferation (GO:0042127)|regulation of cellular respiration (GO:0043457)|regulation of insulin secretion (GO:0050796)|response to bacterium (GO:0009617)|response to hypoxia (GO:0001666)|superoxide metabolic process (GO:0006801)	cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular (GO:0005622)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|peroxisome (GO:0005777)	arginine binding (GO:0034618)|flavin adenine dinucleotide binding (GO:0050660)|FMN binding (GO:0010181)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|NADP binding (GO:0050661)|NADPH-hemoprotein reductase activity (GO:0003958)|nitric-oxide synthase activity (GO:0004517)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|tetrahydrobiopterin binding (GO:0034617)			autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(28)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	56					Dexamethasone(DB01234)|Doxorubicin(DB00997)|L-Arginine(DB00125)|L-Citrulline(DB00155)|Miconazole(DB01110)|Triflusal(DB08814)	GGCTGTGAGTCCTGCACGAGC	0.557																																						ENST00000313735.6																			0				autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(28)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	56						c.(2140-2142)Gac>Aac		nitric oxide synthase 2, inducible	Dexamethasone(DB01234)|Hydrocortisone(DB00741)|L-Arginine(DB00125)|L-Citrulline(DB00155)						74	58	63					17																	26094758		2203	4300	6503	SO:0001583	missense	4843				arginine catabolic process|defense response to Gram-negative bacterium|innate immune response in mucosa|nitric oxide biosynthetic process|peptidyl-cysteine S-nitrosylation|platelet activation|positive regulation of killing of cells of other organism|positive regulation of leukocyte mediated cytotoxicity|regulation of cellular respiration|regulation of insulin secretion|superoxide metabolic process	cytosol|nucleus	arginine binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|protein homodimerization activity|tetrahydrobiopterin binding	g.chr17:26094758C>T	U20141	CCDS11223.1	17q11.2	2014-06-12	2008-09-16	2008-09-16	ENSG00000007171	ENSG00000007171	1.14.13.39		7873	protein-coding gene	gene with protein product		163730	"nitric oxide synthase 2A (inducible, hepatocytes)"	NOS2A		7682706	Standard	NM_000625		Approved	iNOS, NOS, HEP-NOS	uc002gzu.3	P35228	OTTHUMG00000132445	ENST00000313735.6:c.2140G>A	17.37:g.26094758C>T	ENSP00000327251:p.Asp714Asn						p.D714N	NM_000625.4	NP_000616.3	P35228	NOS2_HUMAN			18	2373	-			714					A1L3U5|B7ZLY2|O60757|O94994|Q16263|Q16692|Q4TTS5|Q9UD42	Missense_Mutation	SNP	ENST00000313735.6	37	c.2140G>A	CCDS11223.1	.	.	.	.	.	.	.	.	.	.	C	13.37	2.216369	0.39201	.	.	ENSG00000007171	ENST00000313735;ENST00000379105;ENST00000302153	T	0.32753	1.44	5.18	3.93	0.45458	Riboflavin synthase-like beta-barrel (1);	0.180824	0.45606	D	0.000342	T	0.26557	0.0649	L	0.52126	1.63	0.28861	N	0.895519	B;B	0.16802	0.019;0.003	B;B	0.18561	0.022;0.009	T	0.15896	-1.0421	10	0.23891	T	0.37	.	10.5411	0.45033	0.0:0.8813:0.0:0.1187	.	679;714	F8WEM3;P35228	.;NOS2_HUMAN	N	714;675;679	ENSP00000327251:D714N	ENSP00000305638:D679N	D	-	1	0	NOS2	23118885	0.996000	0.38824	0.436000	0.26797	0.991000	0.79684	3.387000	0.52501	0.853000	0.35312	0.456000	0.33151	GAC		0.557	NOS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255597.1	NM_000625		8	65	0	0	0	1	0	8	65					T	26094758	C	T	26094758	3	4	270	1	0	0	0	0	1	0	0	0	10543	855	30	3	1361	3	NOS2	17	26094758	Missense_Mutation	SNP	C	TCGA-J4-A67R-01A-21D-A30E-08	18808428	26094758	55100452	29	12613											
ANKRD24	170961	broad.mit.edu	37	chr19	4217746	4217746	+	Frame_Shift_Del	DEL	G	G	-																															ctggccacggccagggccacGggggagcagcagcgcacggc																								rs548651465	byFrequency	TCGA-J4-A67R-01A-21D-A30E-08	TCGA-J4-A67R-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df8a2b1-72de-4a9c-a20d-f659cefe1ed4	ecef180f-ebad-4421-8489-69ff5a12d716	g.chr19:4217746delG	ENST00000600132.1	+	18	2865	c.2589delG	c.(2587-2589)acgfs	p.T863fs	ANKRD24_ENST00000262970.5_Frame_Shift_Del_p.T953fs|ANKRD24_ENST00000318934.4_Frame_Shift_Del_p.T863fs	NM_133475.1	NP_597732.1	Q8TF21	ANR24_HUMAN	ankyrin repeat domain 24	863										endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)	21				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0233)|STAD - Stomach adenocarcinoma(1328;0.181)		CCAGGGCCACGGGGGAGCAGC	0.791																																						ENST00000600132.1																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)	21						c.(2587-2589)acfs		ankyrin repeat domain 24							1	2	2					19																	4217746		949	2239	3188	SO:0001589	frameshift_variant	170961							g.chr19:4217746delG	AB075861	CCDS45925.1	19p13.3	2013-01-10				ENSG00000089847		"Ankyrin repeat domain containing"	29424	protein-coding gene	gene with protein product						11853319	Standard	NM_133475		Approved	KIAA1981	uc010dtt.1	Q8TF21		ENST00000600132.1:c.2589delG	19.37:g.4217746delG	ENSP00000471252:p.Thr863fs					ANKRD24_ENST00000262970.5_Frame_Shift_Del_p.T953fs|ANKRD24_ENST00000318934.4_Frame_Shift_Del_p.T863fs	p.T863fs	NM_133475.1	NP_597732.1	Q8TF21	ANR24_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0233)|STAD - Stomach adenocarcinoma(1328;0.181)	18	2865	+			863					O75268|O95781	Frame_Shift_Del	DEL	ENST00000600132.1	37	c.2589delG	CCDS45925.1																																																																																				0.791	ANKRD24-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000458188.1	XM_114000		2	4						2	4	---	---	---	---	-	4217746	G	-	4217746	7	5	270	1	0	1	0	1	0	0	0	0	653	1103	39	0	2655	0	ANKRD24	19	4217746	Frame_Shift_Del	DEL	G	TCGA-J4-A67R-01A-21D-A30E-08		4217746	54911237	30	12614											
MUC16	94025	broad.mit.edu	37	chr19	9073638	9073638	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggagggtgctgttctcttttCgtccagcagtcagggaggat	6	12	15	8	1	2	0	1	0	1	0	5	3	3	3	1	4	2	3	1	4	0	3	rs201713021	byFrequency	TCGA-J4-A67R-01A-21D-A30E-08	TCGA-J4-A67R-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df8a2b1-72de-4a9c-a20d-f659cefe1ed4	ecef180f-ebad-4421-8489-69ff5a12d716	g.chr19:9073638C>T	ENST00000397910.4	-	3	14011	c.13808G>A	c.(13807-13809)cGa>cAa	p.R4603Q		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	4605	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)		p.R4603Q(3)|p.R236Q(2)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GTTCTCTTTTCGTCCAGCAGT	0.502													C|||	3	0.000599042	0.0023	0	5008	,	,		20960	0		0	False		,,,				2504	0					ENST00000397910.4																			5	Substitution - Missense(5)	p.R4603Q(3)|p.R236Q(2)	lung(3)|ovary(2)	NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(13807-13809)cGa>cAa		mucin 16, cell surface associated		C	GLN/ARG	19,3967		1,17,1975	93	88	90		13808	-0.8	0	19		90	1,8343		0,1,4171	yes	missense	MUC16	NM_024690.2	43	1,18,6146	TT,TC,CC		0.012,0.4767,0.1622	benign	4603/14508	9073638	20,12310	1993	4172	6165	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9073638C>T	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.13808G>A	19.37:g.9073638C>T	ENSP00000381008:p.Arg4603Gln						p.R4603Q	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			3	14011	-			4605			Thr-rich.		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.13808G>A	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	c	2.656	-0.280750	0.05642	0.004767	1.2E-4	ENSG00000181143	ENST00000397910	T	0.02812	4.15	1.63	-0.829	0.10796	.	.	.	.	.	T	0.01222	0.0040	N	0.02011	-0.69	.	.	.	B	0.06786	0.001	B	0.01281	0.0	T	0.44862	-0.9300	8	0.87932	D	0	.	3.5428	0.07818	0.3197:0.4572:0.0:0.2231	.	4603	B5ME49	.	Q	4603	ENSP00000381008:R4603Q	ENSP00000381008:R4603Q	R	-	2	0	MUC16	8934638	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.445000	0.02401	-0.818000	0.04329	-1.786000	0.00637	CGA		0.502	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		5	71	0	0	0	1	0	5	71					T	9073638	C	T	9073638	3	4	270	1	0	0	0	0	1	0	0	0	9973	884	31	2	30043	2	MUC16	19	9073638	Missense_Mutation	SNP	C	TCGA-J4-A67R-01A-21D-A30E-08	4855892	9073638	50055345	31	12615											
SAMD1	646457	broad.mit.edu	37	chr19	14199510	14199510	+	5'Flank	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tggaaagctgtcgcctgctcCgggaatccagcctcagtaaa	10	8	11	12	2	1	0	1	0	0	0	4	2	3	2	4	2	3	3	4	2	4	1			TCGA-J4-A67R-01A-21D-A30E-08	TCGA-J4-A67R-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df8a2b1-72de-4a9c-a20d-f659cefe1ed4	ecef180f-ebad-4421-8489-69ff5a12d716	g.chr19:14199510C>T	ENST00000548523.1	-	0	0				C19orf67_ENST00000547589.1_5'Flank|SAMD1_ENST00000541938.1_5'Flank|PRKACA_ENST00000350356.3_5'Flank|SAMD1_ENST00000533683.2_Silent_p.P371P	NM_001277378.1	NP_001264307.1	A6NJJ6	CS067_HUMAN	chromosome 19 open reading frame 67											central_nervous_system(1)	1						TCGCCTGCTCCGGGAATCCAG	0.567																																						ENST00000533683.2																			0				endometrium(3)	3						c.(1111-1113)ccG>ccA		sterile alpha motif domain containing 1							51	56	54					19																	14199510		2012	4170	6182	SO:0001631	upstream_gene_variant	90378					cytoplasm|extracellular region		g.chr19:14199510C>T		CCDS59360.1	19p13.12	2008-07-02			ENSG00000188032	ENSG00000188032			34354	protein-coding gene	gene with protein product							Standard	NM_001277378		Approved		uc031rjr.1	A6NJJ6			19.37:g.14199510C>T	Exception_encountered						p.P371P	NM_138352.1	NP_612361.1	Q6SPF0	SAMD1_HUMAN		GBM - Glioblastoma multiforme(1328;0.000411)|STAD - Stomach adenocarcinoma(1328;0.00644)|Lung(535;0.199)	4	1400	-		Renal(1328;0.00183)|Hepatocellular(1079;0.00826)	477						Silent	SNP	ENST00000548523.1	37	c.1113G>A	CCDS59360.1																																																																																				0.567	C19orf67-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000403368.1	XM_929382		4	89	0	0	0	1	0	4	89					T	14199510	C	T	14199510	1	4	270	0	1	0	0	0	0	0	0	0	13814	639	23	2		2	SAMD1	19	14199510	5'Flank	SNP	C	TCGA-J4-A67R-01A-21D-A30E-08	5125872	14199510	44929473	32	12616											
RYR1	6261	broad.mit.edu	37	chr19	38958369	38958369	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cagtcaccacaggcgagatgCgcgtgggctgggcgaggccc	7	4	17	13	4	1	1	1	0	0	1	1	3	1	1	2	4	1	1	2	4	0	0			TCGA-J4-A67R-01A-21D-A30E-08	TCGA-J4-A67R-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df8a2b1-72de-4a9c-a20d-f659cefe1ed4	ecef180f-ebad-4421-8489-69ff5a12d716	g.chr19:38958369C>T	ENST00000359596.3	+	25	3298	c.3298C>T	c.(3298-3300)Cgc>Tgc	p.R1100C	RYR1_ENST00000360985.3_Missense_Mutation_p.R1100C|RYR1_ENST00000355481.4_Missense_Mutation_p.R1100C			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	1100	6 X approximate repeats.|B30.2/SPRY 2. {ECO:0000255|PROSITE- ProRule:PRU00548}.				calcium ion transport (GO:0006816)|cellular response to caffeine (GO:0071313)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|ossification involved in bone maturation (GO:0043931)|outflow tract morphogenesis (GO:0003151)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|skeletal muscle fiber development (GO:0048741)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|integral component of plasma membrane (GO:0005887)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|voltage-gated calcium channel activity (GO:0005245)			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	AGGCGAGATGCGCGTGGGCTG	0.622																																						ENST00000355481.4																			0				NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285						c.(3298-3300)Cgc>Tgc		ryanodine receptor 1 (skeletal)	Dantrolene(DB01219)						89	75	80					19																	38958369		2203	4300	6503	SO:0001583	missense	6261				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr19:38958369C>T	J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"Ion channels / Ryanodine receptors"	10483	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 137"	180901	"central core disease of muscle"	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.3298C>T	19.37:g.38958369C>T	ENSP00000352608:p.Arg1100Cys					RYR1_ENST00000359596.3_Missense_Mutation_p.R1100C|RYR1_ENST00000360985.3_Missense_Mutation_p.R1100C	p.R1100C	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		25	3429	+	all_cancers(60;7.91e-06)		1100			6 X approximate repeats.|B30.2/SPRY 2.		Q16314|Q16368|Q9NPK1|Q9P1U4	Missense_Mutation	SNP	ENST00000359596.3	37	c.3298C>T	CCDS33011.1	.	.	.	.	.	.	.	.	.	.	c	14.82	2.650545	0.47362	.	.	ENSG00000196218	ENST00000359596;ENST00000355481;ENST00000360985	T;T;T	0.71222	-0.55;-0.55;-0.55	2.94	2.94	0.34122	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.177658	0.34200	U	0.004163	D	0.85496	0.5710	M	0.93062	3.375	0.53688	D	0.999975	D;D	0.89917	1.0;1.0	D;D	0.97110	0.998;1.0	D	0.87643	0.2523	10	0.87932	D	0	.	10.2497	0.43362	0.1988:0.8012:0.0:0.0	.	1100;1100	P21817-2;P21817	.;RYR1_HUMAN	C	1100	ENSP00000352608:R1100C;ENSP00000347667:R1100C;ENSP00000354254:R1100C	ENSP00000347667:R1100C	R	+	1	0	RYR1	43650209	0.998000	0.40836	1.000000	0.80357	0.958000	0.62258	0.531000	0.23052	1.972000	0.57404	0.403000	0.27427	CGC		0.622	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1			5	191	0	0	0	1	0	5	191					T	38958369	C	T	38958369	3	4	270	1	0	0	0	0	1	0	0	0	13768	768	27	1	3396	1	RYR1	19	38958369	Missense_Mutation	SNP	C	TCGA-J4-A67R-01A-21D-A30E-08	24758859	38958369	20170614	33	12617											
ZNF417	147687	broad.mit.edu	37	chr19	58423500	58423500	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cctctgagcctcactaagaaGacaccactcctcctgggaaa	12	7	7	15	0	2	3	1	1	1	2	4	4	4	4	5	1	1	0	5	1	3	1			TCGA-J4-A67R-01A-21D-A30E-08	TCGA-J4-A67R-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df8a2b1-72de-4a9c-a20d-f659cefe1ed4	ecef180f-ebad-4421-8489-69ff5a12d716	g.chr19:58423500G>C	ENST00000312026.5	-	2	255	c.91C>G	c.(91-93)Ctt>Gtt	p.L31V	ZNF417_ENST00000536263.1_5'UTR|ZNF417_ENST00000595559.1_Missense_Mutation_p.L30V|CTD-2583A14.9_ENST00000602124.1_5'UTR	NM_152475.2	NP_689688.2	Q8TAU3	ZN417_HUMAN	zinc finger protein 417	31	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|stomach(3)|upper_aerodigestive_tract(1)	18		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0151)		TCACTAAGAAGACACCACTCC	0.507																																						ENST00000312026.5																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|stomach(3)|upper_aerodigestive_tract(1)	18						c.(91-93)Ctt>Gtt		zinc finger protein 417							70	69	69					19																	58423500		2202	4281	6483	SO:0001583	missense	147687				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58423500G>C	BC025783	CCDS12965.1, CCDS74469.1	19q13.43	2013-01-08				ENSG00000173480		"Zinc fingers, C2H2-type", "-"	20646	protein-coding gene	gene with protein product							Standard	NM_152475		Approved	MGC34079	uc002qqq.3	Q8TAU3		ENST00000312026.5:c.91C>G	19.37:g.58423500G>C	ENSP00000311319:p.Leu31Val					ZNF417_ENST00000536263.1_5'UTR|ZNF417_ENST00000595559.1_Missense_Mutation_p.L30V|CTD-2583A14.9_ENST00000602124.1_5'UTR	p.L31V	NM_152475.2	NP_689688.2	Q8TAU3	ZN417_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0151)	2	255	-		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)	31			KRAB.		B4DEU1	Missense_Mutation	SNP	ENST00000312026.5	37	c.91C>G	CCDS12965.1	.	.	.	.	.	.	.	.	.	.	.	4.780	0.145038	0.09134	.	.	ENSG00000173480	ENST00000312026	T	0.02158	4.42	1.9	0.85	0.18980	Krueppel-associated box (4);	.	.	.	.	T	0.08133	0.0203	H	0.95079	3.62	0.19300	N	0.999971	P;P	0.52316	0.928;0.952	B;P	0.48141	0.201;0.568	T	0.17961	-1.0352	9	0.54805	T	0.06	.	2.4508	0.04517	0.1798:0.0:0.5279:0.2923	.	31;31	F5H0M9;Q8TAU3	.;ZN417_HUMAN	V	31	ENSP00000311319:L31V	ENSP00000311319:L31V	L	-	1	0	ZNF417	63115312	0.054000	0.20591	0.032000	0.17829	0.068000	0.16541	1.276000	0.33156	0.355000	0.24131	0.305000	0.20034	CTT		0.507	ZNF417-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466860.1	NM_152475		9	212	0	0	0	1	0	9	212					C	58423500	G	C	58423500	3	2	270	1	0	0	0	0	1	0	0	0	17891	942	33	5	1644	5	ZNF417	19	58423500	Missense_Mutation	SNP	G	TCGA-J4-A67R-01A-21D-A30E-08	19465131	58423500	705483	34	12618											
TUBGCP6	85378	broad.mit.edu	37	chr22	50682700	50682700	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atcttgtttctcgctggtagTtttgacatgtcaggctgcag	6	16	11	8	1	3	1	1	1	2	0	4	1	3	1	0	2	1	6	0	2	1	5			TCGA-J4-A67R-01A-21D-A30E-08	TCGA-J4-A67R-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df8a2b1-72de-4a9c-a20d-f659cefe1ed4	ecef180f-ebad-4421-8489-69ff5a12d716	g.chr22:50682700T>C	ENST00000248846.5	-	1	293	c.189A>G	c.(187-189)aaA>aaG	p.K63K	MAPK12_ENST00000497036.1_5'Flank|HDAC10_ENST00000498366.1_5'Flank|TUBGCP6_ENST00000439308.2_Silent_p.K63K			Q96RT7	GCP6_HUMAN	tubulin, gamma complex associated protein 6	63					G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|gamma-tubulin ring complex (GO:0008274)|membrane (GO:0016020)|microtubule (GO:0005874)|spindle pole (GO:0000922)	microtubule binding (GO:0008017)			breast(4)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(13)|ovary(3)|prostate(2)|skin(2)	45		all_cancers(38;5.79e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21)		TCGCTGGTAGTTTTGACATGT	0.522																																						ENST00000439308.2																			0				breast(4)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(13)|ovary(3)|prostate(2)|skin(2)	45						c.(187-189)aaA>aaG		tubulin, gamma complex associated protein 6							83	77	79					22																	50682700		2202	4300	6502	SO:0001819	synonymous_variant	85378				G2/M transition of mitotic cell cycle|microtubule nucleation	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	microtubule binding	g.chr22:50682700T>C	AB051456	CCDS14087.1	22q13.31-q13.33	2008-07-01			ENSG00000128159	ENSG00000128159			18127	protein-coding gene	gene with protein product	"gamma-tubulin complex component 6"	610053				11694571, 11258795	Standard	XR_244458		Approved	GCP6, KIAA1669, DJ402G11.6	uc003bkb.1	Q96RT7	OTTHUMG00000030150	ENST00000248846.5:c.189A>G	22.37:g.50682700T>C						TUBGCP6_ENST00000248846.5_Silent_p.K63K	p.K63K	NM_020461.3	NP_065194.2	Q96RT7	GCP6_HUMAN		LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21)	1	681	-		all_cancers(38;5.79e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)	63					Q5JZ80|Q6PJ40|Q86YE9|Q9BY91|Q9UGX3|Q9UGX4	Silent	SNP	ENST00000248846.5	37	c.189A>G	CCDS14087.1																																																																																				0.522	TUBGCP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075004.3	NM_020461		14	165	0	0	0	1	0	14	165					C	50682700	T	C	50682700	2	2	270	1	0	0	0	0	0	0	0	1	16767	1722	60	4		4	TUBGCP6	22	50682700	Silent	SNP	T	TCGA-J4-A67R-01A-21D-A30E-08		50682700	621866	35	12619											
FAM47C	442444	broad.mit.edu	37	chrX	37028425	37028425	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtctccgcccggagcctcccAatactggagtgtcccatctc	6	9	9	17	2	2	0	0	0	2	0	6	2	4	2	5	2	2	0	5	2	2	1	rs145580328		TCGA-J4-A67R-01A-21D-A30E-08	TCGA-J4-A67R-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df8a2b1-72de-4a9c-a20d-f659cefe1ed4	ecef180f-ebad-4421-8489-69ff5a12d716	g.chrX:37028425A>G	ENST00000358047.3	+	1	1994	c.1942A>G	c.(1942-1944)Aat>Gat	p.N648D		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	648								p.N648D(7)		breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						GGAGCCTCCCAATACTGGAGT	0.642																																						ENST00000358047.3																			7	Substitution - Missense(7)	p.N648D(7)	urinary_tract(2)|prostate(2)|lung(2)|skin(1)	breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						c.(1942-1944)Aat>Gat		family with sequence similarity 47, member C							51	56	55					X																	37028425		2201	4299	6500	SO:0001583	missense	442444							g.chrX:37028425A>G	AK125992	CCDS35227.1	Xp21.1	2006-07-04			ENSG00000198173	ENSG00000198173			25301	protein-coding gene	gene with protein product							Standard	NM_001013736		Approved		uc004ddl.2	Q5HY64	OTTHUMG00000024025	ENST00000358047.3:c.1942A>G	X.37:g.37028425A>G	ENSP00000367913:p.Asn648Asp						p.N648D	NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN			1	1994	+			648					Q6ZU46	Missense_Mutation	SNP	ENST00000358047.3	37	c.1942A>G	CCDS35227.1	.	.	.	.	.	.	.	.	.	.	-	3.343	-0.134139	0.06711	.	.	ENSG00000198173	ENST00000358047	T	0.13196	2.61	1.61	-3.22	0.05125	.	.	.	.	.	T	0.04543	0.0124	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.38993	-0.9635	9	0.20519	T	0.43	.	0.6811	0.00875	0.2356:0.2078:0.3498:0.2069	.	648	Q5HY64	FA47C_HUMAN	D	648	ENSP00000367913:N648D	ENSP00000367913:N648D	N	+	1	0	FAM47C	36938346	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.937000	0.01547	-1.437000	0.01967	-1.178000	0.01721	AAT		0.642	FAM47C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060508.1	NM_001013736		5	140	0	0	0	1	0	5	140					G	37028425	A	G	37028425	3	3	270	1	0	0	0	0	1	0	0	0	5571	130	5	4	1944	4	FAM47C	23	37028425	Missense_Mutation	SNP	A	TCGA-J4-A67R-01A-21D-A30E-08		37028425	118242135	36	12620											
ERMAP	114625	broad.mit.edu	37	chr1	43296726	43296726	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgaggaccaagggtcttacCgatgtctgatccaagttgga	10	11	12	8	1	2	2	0	2	2	0	3	5	3	4	3	3	1	1	3	3	3	3			TCGA-J4-A67S-01A-11D-A30E-08	TCGA-J4-A67S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f76caec-6872-4f66-a84d-5c31c5cc24c5	b384da3b-69cc-4f3a-a804-090440fa25f6	g.chr1:43296726C>T	ENST00000372517.2	+	4	617	c.373C>T	c.(373-375)Cga>Tga	p.R125*	ERMAP_ENST00000372514.3_Nonsense_Mutation_p.R125*|ERMAP_ENST00000487556.1_Intron|ERMAP_ENST00000328249.3_Nonsense_Mutation_p.R35*	NM_001017922.1	NP_001017922.1	Q96PL5	ERMAP_HUMAN	erythroblast membrane-associated protein (Scianna blood group)	125	Ig-like V-type.		Missing (in Sc-3 allele).			cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	11	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				AGGGTCTTACCGATGTCTGAT	0.527																																						ENST00000328249.3																			0				breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	11						c.(103-105)Cga>Tga		erythroblast membrane-associated protein (Scianna blood group)							130	111	117					1																	43296726		2203	4300	6503	SO:0001587	stop_gained	114625					integral to membrane|plasma membrane		g.chr1:43296726C>T	AF311284	CCDS475.1	1p34	2014-07-19	2006-02-23		ENSG00000164010	ENSG00000164010		"Blood group antigens", "Immunoglobulin superfamily / V-set domain containing", "Butyrophilins"	15743	protein-coding gene	gene with protein product		609017	"Radin blood group", "Scianna blood group", "erythroblast membrane-associated protein", "erythroblast membrane-associated protein (RD and SC blood groups)"	RD, SC		11549310	Standard	XM_005270415		Approved	BTN5	uc001cie.1	Q96PL5	OTTHUMG00000007619	ENST00000372517.2:c.373C>T	1.37:g.43296726C>T	ENSP00000361595:p.Arg125*					ERMAP_ENST00000487556.1_Intron|ERMAP_ENST00000372514.3_Nonsense_Mutation_p.R125*|ERMAP_ENST00000372517.2_Nonsense_Mutation_p.R125*	p.R35*			Q96PL5	ERMAP_HUMAN			1	1141	+	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)	125		G -> S (in Sc7 antigen).	Ig-like V-type.		D3DPW8|Q5VV53|Q6DUE0|Q7Z3X0|Q8NCV8|Q8NCW2|Q8NCW3|Q96PL6	Nonsense_Mutation	SNP	ENST00000372517.2	37	c.103C>T	CCDS475.1	.	.	.	.	.	.	.	.	.	.	C	44	11.038751	0.99507	.	.	ENSG00000164010	ENST00000372517;ENST00000372514;ENST00000328249	.	.	.	5.1	0.779	0.18550	.	1.955520	0.03116	N	0.163140	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.34782	T	0.22	.	3.21	0.06678	0.3689:0.4277:0.0:0.2034	.	.	.	.	X	125;125;35	.	ENSP00000332439:R35X	R	+	1	2	ERMAP	43069313	0.012000	0.17670	0.014000	0.15608	0.572000	0.35998	-0.144000	0.10280	0.308000	0.22923	0.557000	0.71058	CGA		0.527	ERMAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000020180.1	NM_018538		9	48	0	0	0	1	0	9	48					T	43296726	C	T	43296726	4	4	271	1	0	0	0	0	0	1	0	0	5234	644	23	2	379	2	ERMAP	1	43296726	Nonsense_Mutation	SNP	C	TCGA-J4-A67S-01A-11D-A30E-08		43296726	205953895	1	12621											
RGS16	6004	broad.mit.edu	37	chr1	182571581	182571581	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	tgctcagcagcaggtcgaacGactctctccaccccagcaca	10	6	8	17	2	2	0	1	0	1	0	5	2	3	0	3	1	5	4	3	1	1	0	rs368228931		TCGA-J4-A67S-01A-11D-A30E-08	TCGA-J4-A67S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f76caec-6872-4f66-a84d-5c31c5cc24c5	b384da3b-69cc-4f3a-a804-090440fa25f6	g.chr1:182571581G>C	ENST00000367558.5	-	3	342	c.194C>G	c.(193-195)tCg>tGg	p.S65W		NM_002928.3	NP_002919.3	O15492	RGS16_HUMAN	regulator of G-protein signaling 16	65	RGS. {ECO:0000255|PROSITE- ProRule:PRU00171}.				positive regulation of GTPase activity (GO:0043547)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	calmodulin binding (GO:0005516)|GTPase activator activity (GO:0005096)			NS(1)|endometrium(3)|large_intestine(2)|lung(4)|ovary(1)	11						CAGGTCGAACGACTCTCTCCA	0.438																																						ENST00000367558.5																			0				NS(1)|endometrium(3)|large_intestine(2)|lung(4)|ovary(1)	11						c.(193-195)tCg>tGg		regulator of G-protein signaling 16							80	76	77					1																	182571581		2203	4300	6503	SO:0001583	missense	6004				negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway|visual perception	cytoplasm|plasma membrane	calmodulin binding|GTPase activator activity|signal transducer activity	g.chr1:182571581G>C	U70426	CCDS1348.1	1q25-q31	2008-02-05	2007-08-14		ENSG00000143333	ENSG00000143333		"Regulators of G-protein signaling"	9997	protein-coding gene	gene with protein product		602514	"regulator of G-protein signalling 16"			9469939	Standard	NM_002928		Approved	A28-RGS14, RGS-r	uc001gpl.4	O15492	OTTHUMG00000035212	ENST00000367558.5:c.194C>G	1.37:g.182571581G>C	ENSP00000356529:p.Ser65Trp						p.S65W	NM_002928.3	NP_002919.3	O15492	RGS16_HUMAN			3	342	-			65			RGS.		B2R4M4|Q5VYN9|Q99701	Missense_Mutation	SNP	ENST00000367558.5	37	c.194C>G	CCDS1348.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.216275	0.79352	.	.	ENSG00000143333	ENST00000367558	T	0.02498	4.27	5.23	5.23	0.72850	Regulator of G protein signalling (4);Regulator of G protein signalling superfamily (1);Regulator of G-protein signaling, domain 1 (1);	0.000000	0.85682	D	0.000000	T	0.25531	0.0621	H	0.96175	3.78	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.30592	-0.9973	10	0.87932	D	0	.	16.0754	0.80965	0.0:0.0:1.0:0.0	.	65;65	B4DVW5;O15492	.;RGS16_HUMAN	W	65	ENSP00000356529:S65W	ENSP00000356529:S65W	S	-	2	0	RGS16	180838204	1.000000	0.71417	0.946000	0.38457	0.996000	0.88848	7.915000	0.87484	2.594000	0.87642	0.655000	0.94253	TCG		0.438	RGS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085188.1	NM_002928		11	54	0	0	0	1	0	11	54					C	182571581	G	C	182571581	3	2	271	1	0	0	0	0	1	0	0	0	13298	1059	37	5	426	5	RGS16	1	182571581	Missense_Mutation	SNP	G	TCGA-J4-A67S-01A-11D-A30E-08	139274855	182571581	66679040	2	12622											
ARHGAP25	9938	broad.mit.edu	37	chr2	69002491	69002491	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gaagaactggcagcagaggtActttgtgctgagggcgcagc	10	7	16	8	1	0	3	0	1	0	2	0	4	0	3	0	3	5	5	0	3	3	2			TCGA-J4-A67S-01A-11D-A30E-08	TCGA-J4-A67S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f76caec-6872-4f66-a84d-5c31c5cc24c5	b384da3b-69cc-4f3a-a804-090440fa25f6	g.chr2:69002491A>G	ENST00000295381.3	+	2	619	c.200A>G	c.(199-201)tAc>tGc	p.Y67C	ARHGAP25_ENST00000409220.1_Missense_Mutation_p.Y60C|ARHGAP25_ENST00000497079.1_Missense_Mutation_p.Y60C|ARHGAP25_ENST00000544262.1_Missense_Mutation_p.Y41C|ARHGAP25_ENST00000409202.3_Missense_Mutation_p.Y67C|ARHGAP25_ENST00000409030.3_Missense_Mutation_p.Y60C|ARHGAP25_ENST00000456116.2_3'UTR|ARHGAP25_ENST00000467265.1_Missense_Mutation_p.Y67C	NM_001007231.2	NP_001007232.2	P42331	RHG25_HUMAN	Rho GTPase activating protein 25	67	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)			breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(20)|ovary(3)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	52						CAGCAGAGGTACTTTGTGCTG	0.577																																						ENST00000295381.3																			0				breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(20)|ovary(3)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	52						c.(199-201)tAc>tGc		Rho GTPase activating protein 25							131	139	136					2																	69002491		2203	4300	6503	SO:0001583	missense	9938				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	g.chr2:69002491A>G	D29642	CCDS33214.1, CCDS46312.1, CCDS33214.2, CCDS54363.1, CCDS54364.1	2p13.3	2013-01-10			ENSG00000163219	ENSG00000163219		"Rho GTPase activating proteins", "Pleckstrin homology (PH) domain containing"	28951	protein-coding gene	gene with protein product		610587				7584044	Standard	NM_001007231		Approved	KIAA0053	uc010fdg.3	P42331	OTTHUMG00000152621	ENST00000295381.3:c.200A>G	2.37:g.69002491A>G	ENSP00000295381:p.Tyr67Cys					ARHGAP25_ENST00000409202.3_Missense_Mutation_p.Y67C|ARHGAP25_ENST00000467265.1_Missense_Mutation_p.Y67C|ARHGAP25_ENST00000544262.1_Missense_Mutation_p.Y41C|ARHGAP25_ENST00000409030.3_Missense_Mutation_p.Y60C|ARHGAP25_ENST00000456116.2_3'UTR|ARHGAP25_ENST00000497079.1_Missense_Mutation_p.Y60C|ARHGAP25_ENST00000409220.1_Missense_Mutation_p.Y60C	p.Y67C	NM_001007231.2	NP_001007232.2	P42331	RHG25_HUMAN			2	619	+			67			PH.		A8K2Y1|B7Z498|E9PFQ7|G5E9G2|Q8IXQ2	Missense_Mutation	SNP	ENST00000295381.3	37	c.200A>G		.	.	.	.	.	.	.	.	.	.	A	20.1	3.940283	0.73557	.	.	ENSG00000163219	ENST00000544262;ENST00000295381;ENST00000409202;ENST00000467265;ENST00000409030;ENST00000409220;ENST00000482106;ENST00000497079	T;T;T;T;T;T;T	0.15603	2.41;2.41;2.41;2.41;2.41;2.41;2.41	5.58	5.58	0.84498	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.131154	0.53938	D	0.000055	T	0.51839	0.1698	M	0.92784	3.345	0.49798	D	0.999829	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.87578	0.997;0.996;0.998;0.996;0.996;0.992;0.997	T	0.64206	-0.6462	10	0.87932	D	0	.	14.5679	0.68191	1.0:0.0:0.0:0.0	.	67;41;67;60;60;60;67	E9PFQ7;B7Z8K7;P42331-4;G5E9G2;P42331-3;P42331-2;P42331	.;.;.;.;.;.;RHG25_HUMAN	C	41;67;67;67;60;60;60;60	ENSP00000439917:Y41C;ENSP00000295381:Y67C;ENSP00000386911:Y67C;ENSP00000420583:Y67C;ENSP00000386863:Y60C;ENSP00000386241:Y60C;ENSP00000417139:Y60C	ENSP00000295381:Y67C	Y	+	2	0	ARHGAP25	68855995	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	2.596000	0.46205	2.111000	0.64477	0.460000	0.39030	TAC		0.577	ARHGAP25-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_014882		7	223	0	0	0	1	0	7	223					G	69002491	A	G	69002491	3	3	271	1	0	0	0	0	1	0	0	0	874	391	14	4	246	4	ARHGAP25	2	69002491	Missense_Mutation	SNP	A	TCGA-J4-A67S-01A-11D-A30E-08		69002491	174196882	3	12623											
ACCN4	55515	broad.mit.edu	37	chr2	220402012	220402012	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cattggggccagcatcctcaCgttgctggagatcctcgact	7	10	11	13	2	1	1	1	0	0	1	4	3	3	1	3	3	2	3	3	3	0	2			TCGA-J4-A67S-01A-11D-A30E-08	TCGA-J4-A67S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f76caec-6872-4f66-a84d-5c31c5cc24c5	b384da3b-69cc-4f3a-a804-090440fa25f6	g.chr2:220402012C>T	ENST00000347842.3	+	7	1708	c.1694C>T	c.(1693-1695)aCg>aTg	p.T565M	ASIC4_ENST00000358078.4_Missense_Mutation_p.T584M	NM_182847.2	NP_878267.2	Q96FT7	ASIC4_HUMAN	acid-sensing (proton-gated) ion channel family member 4	565					ion transmembrane transport (GO:0034220)|sodium ion transmembrane transport (GO:0035725)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)	ion channel activity (GO:0005216)|sodium channel activity (GO:0005272)|sodium ion transmembrane transporter activity (GO:0015081)										AGCATCCTCACGTTGCTGGAG	0.657																																						ENST00000358078.4																			0											c.(1750-1752)aCg>aTg		acid-sensing (proton-gated) ion channel family member 4							38	34	35					2																	220402012		2203	4300	6503	SO:0001583	missense	55515					integral to plasma membrane	sodium channel activity|sodium ion transmembrane transporter activity	g.chr2:220402012C>T	AJ271643	CCDS2442.1	2q36.1	2012-02-22	2012-02-22	2012-02-22	ENSG00000072182	ENSG00000072182		"Ion channels / Acid-sensing (proton-gated) ion channels"	21263	protein-coding gene	gene with protein product		606715	"amiloride-sensitive cation channel 4, pituitary", "amiloride-sensitive cation channel family member 4, pituitary"	ACCN4		10852210	Standard	NM_182847		Approved	BNAC4	uc002vma.3	Q96FT7	OTTHUMG00000058928	ENST00000347842.3:c.1694C>T	2.37:g.220402012C>T	ENSP00000326627:p.Thr565Met					ASIC4_ENST00000347842.3_Missense_Mutation_p.T565M	p.T584M			Q96FT7	ACCN4_HUMAN			8	1765	+			565					Q53SB7|Q6GMS1|Q6PIN9|Q9NQA4	Missense_Mutation	SNP	ENST00000347842.3	37	c.1751C>T	CCDS2442.1	.	.	.	.	.	.	.	.	.	.	C	19.42	3.825060	0.71143	.	.	ENSG00000072182	ENST00000347842;ENST00000358078	T;T	0.72615	-0.67;-0.67	5.32	5.32	0.75619	.	0.051662	0.85682	D	0.000000	D	0.88757	0.6523	H	0.94183	3.505	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	D	0.91584	0.5281	10	0.87932	D	0	-18.7771	17.5723	0.87937	0.0:1.0:0.0:0.0	.	565;584	Q96FT7;Q96FT7-4	ACCN4_HUMAN;.	M	565;584	ENSP00000326627:T565M;ENSP00000350786:T584M	ENSP00000326627:T565M	T	+	2	0	ACCN4	220110256	1.000000	0.71417	0.958000	0.39756	0.273000	0.26683	7.775000	0.85489	2.659000	0.90383	0.655000	0.94253	ACG		0.657	ASIC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000130263.1	NM_018674		9	30	0	0	0	1	0	9	30					T	220402012	C	T	220402012	3	4	271	1	0	0	0	0	1	0	0	0	131	536	19	1	1781	1	ACCN4	2	220402012	Missense_Mutation	SNP	C	TCGA-J4-A67S-01A-11D-A30E-08	151399521	220402012	22797361	4	12624											
WDR49	151790	broad.mit.edu	37	chr3	167217986	167217986	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatttggggacgctcttcctCtggttctttcctaaagtatt	7	17	8	9	1	3	0	0	0	3	0	5	1	5	1	2	3	0	3	2	3	4	7			TCGA-J4-A67S-01A-11D-A30E-08	TCGA-J4-A67S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f76caec-6872-4f66-a84d-5c31c5cc24c5	b384da3b-69cc-4f3a-a804-090440fa25f6	g.chr3:167217986C>A	ENST00000308378.3	-	14	2235	c.1930G>T	c.(1930-1932)Gag>Tag	p.E644*	WDR49_ENST00000479765.1_Intron|WDR49_ENST00000453925.2_Nonsense_Mutation_p.E609*|WDR49_ENST00000476376.1_Nonsense_Mutation_p.E469*	NM_178824.3	NP_849146.1	Q8IV35	WDR49_HUMAN	WD repeat domain 49	644										breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	50						CGCTCTTCCTCTGGTTCTTTC	0.428																																						ENST00000308378.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	50						c.(1930-1932)Gag>Tag		WD repeat domain 49							141	158	152					3																	167217986		2203	4300	6503	SO:0001587	stop_gained	151790							g.chr3:167217986C>A	AK097556	CCDS3201.1	3q26.1	2013-01-11			ENSG00000174776	ENSG00000174776		"WD repeat domain containing"	26587	protein-coding gene	gene with protein product						12477932	Standard	NM_178824		Approved	FLJ33620	uc003fev.1	Q8IV35	OTTHUMG00000158290	ENST00000308378.3:c.1930G>T	3.37:g.167217986C>A	ENSP00000311343:p.Glu644*					WDR49_ENST00000453925.2_Nonsense_Mutation_p.E609*|WDR49_ENST00000479765.1_Intron|WDR49_ENST00000476376.1_Nonsense_Mutation_p.E469*	p.E644*	NM_178824.3	NP_849146.1	Q8IV35	WDR49_HUMAN			14	2235	-			644					Q8N297	Nonsense_Mutation	SNP	ENST00000308378.3	37	c.1930G>T	CCDS3201.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.90|15.90	2.970002|2.970002	0.53614|0.53614	.|.	.|.	ENSG00000174776|ENSG00000174776	ENST00000308378;ENST00000476376;ENST00000453925|ENST00000472600	.|.	.|.	.|.	5.13|5.13	3.3|3.3	0.37823|0.37823	.|.	0.444046|.	0.19821|.	N|.	0.105320|.	.|T	.|0.63070	.|0.2480	.|.	.|.	.|.	0.40799|0.40799	D|D	0.983324|0.983324	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.60826	.|-0.7186	.|4	0.54805|.	T|.	0.06|.	.|.	12.9061|12.9061	0.58154|0.58154	0.0:0.6579:0.3421:0.0|0.0:0.6579:0.3421:0.0	.|.	.|.	.|.	.|.	X|H	644;469;609|620	.|.	ENSP00000311343:E644X|.	E|Q	-|-	1|3	0|2	WDR49|WDR49	168700680|168700680	0.428000|0.428000	0.25522|0.25522	0.001000|0.001000	0.08648|0.08648	0.007000|0.007000	0.05969|0.05969	0.878000|0.878000	0.28126|0.28126	0.518000|0.518000	0.28383|0.28383	0.467000|0.467000	0.42956|0.42956	GAG|CAG		0.428	WDR49-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000350592.3	NM_178824		47	206	1	0	2.52991e-16	1	2.70438e-16	47	206					A	167217986	C	A	167217986	4	1	271	1	0	0	0	0	0	1	0	0	17299	922	32	5	171	5	WDR49	3	167217986	Nonsense_Mutation	SNP	C	TCGA-J4-A67S-01A-11D-A30E-08		167217986	30804444	5	12625											
SPINK9	643394	broad.mit.edu	37	chr5	147718067	147718067	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgcagtcattataaaaagttAccaccaggacaacagagatt	17	9	7	8	0	1	1	1	0	0	1	1	3	1	2	2	1	3	2	2	1	6	4			TCGA-J4-A67S-01A-11D-A30E-08	TCGA-J4-A67S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f76caec-6872-4f66-a84d-5c31c5cc24c5	b384da3b-69cc-4f3a-a804-090440fa25f6	g.chr5:147718067A>C	ENST00000377906.1	+	3	169	c.114A>C	c.(112-114)ttA>ttC	p.L38F	SPINK9_ENST00000511717.2_Missense_Mutation_p.L59F|RP11-373N22.3_ENST00000501695.3_RNA	NM_001040433.1	NP_001035523.1	Q5DT21	ISK9_HUMAN	serine peptidase inhibitor, Kazal type 9	38	Kazal-like. {ECO:0000255|PROSITE- ProRule:PRU00798}.				negative regulation of endopeptidase activity (GO:0010951)	extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)			ovary(1)|urinary_tract(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATAAAAAGTTACCACCAGGAC	0.308																																						ENST00000511717.2																			0				ovary(1)|urinary_tract(1)	2						c.(175-177)ttA>ttC		serine peptidase inhibitor, Kazal type 9							86	90	88					5																	147718067		2202	4299	6501	SO:0001583	missense	643394					extracellular region	protein binding|serine-type endopeptidase inhibitor activity	g.chr5:147718067A>C	AY396740	CCDS34269.1	5q33.1	2011-08-31				ENSG00000204909		"Serine peptidase inhibitors, Kazal type"	32951	protein-coding gene	gene with protein product		613511					Standard	NM_001040433		Approved		uc003lpe.1	Q5DT21		ENST00000377906.1:c.114A>C	5.37:g.147718067A>C	ENSP00000367139:p.Leu38Phe					RP11-373N22.3_ENST00000501695.3_RNA|SPINK9_ENST00000377906.1_Missense_Mutation_p.L38F	p.L59F			Q5DT21	ISK9_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		4	447	+			38			Kazal-like.		B2RPN9	Missense_Mutation	SNP	ENST00000377906.1	37	c.177A>C	CCDS34269.1	.	.	.	.	.	.	.	.	.	.	A	15.34	2.804728	0.50315	.	.	ENSG00000204909	ENST00000511717;ENST00000377906	T;T	0.74947	-0.89;-0.89	4.1	4.1	0.47936	Proteinase inhibitor I1, Kazal (2);	0.702810	0.11098	N	0.599992	T	0.73916	0.3648	.	.	.	0.09310	N	1	D	0.58970	0.984	P	0.59643	0.861	T	0.59757	-0.7394	9	0.10111	T	0.7	-3.3487	9.6761	0.40041	1.0:0.0:0.0:0.0	.	38	Q5DT21	ISK9_HUMAN	F	59;38	ENSP00000427240:L59F;ENSP00000367139:L38F	ENSP00000367139:L38F	L	+	3	2	SPINK9	147698260	0.001000	0.12720	0.549000	0.28204	0.022000	0.10575	0.705000	0.25675	1.845000	0.53610	0.528000	0.53228	TTA		0.308	SPINK9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373382.1	NM_001040433		14	33	0	0	0	1	0	14	33					C	147718067	A	C	147718067	3	2	271	1	0	0	0	0	1	0	0	0	15065	388	14	5	124	5	SPINK9	5	147718067	Missense_Mutation	SNP	A	TCGA-J4-A67S-01A-11D-A30E-08		147718067	33197193	6	12626											
CYP2W1	54905	broad.mit.edu	37	chr7	1026363	1026363	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgaggaccctcctggaggCgcggaggccccacgtgtgcc	5	6	15	15	3	1	1	0	1	1	0	2	4	2	4	5	5	1	0	5	5	0	0			TCGA-J4-A67S-01A-11D-A30E-08	TCGA-J4-A67S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f76caec-6872-4f66-a84d-5c31c5cc24c5	b384da3b-69cc-4f3a-a804-090440fa25f6	g.chr7:1026363C>T	ENST00000308919.7	+	5	762	c.749C>T	c.(748-750)gCg>gTg	p.A250V	CYP2W1_ENST00000340150.6_Missense_Mutation_p.A194V	NM_017781.2	NP_060251.2	Q8TAV3	CP2W1_HUMAN	cytochrome P450, family 2, subfamily W, polypeptide 1	250					small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen (GO:0016705)			breast(1)|large_intestine(1)|lung(4)|urinary_tract(1)	7		Ovarian(82;0.0112)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;1.74e-15)		CTCCTGGAGGCGCGGAGGCCC	0.672																																						ENST00000340150.6																			0				breast(1)|large_intestine(1)|lung(4)|urinary_tract(1)	7						c.(580-582)gCg>gTg		cytochrome P450, family 2, subfamily W, polypeptide 1							26	29	28					7																	1026363		2197	4298	6495	SO:0001583	missense	54905				xenobiotic metabolic process	endoplasmic reticulum membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen	g.chr7:1026363C>T	AK000366	CCDS5319.2	7p22.3	2004-07-05			ENSG00000073067	ENSG00000073067		"Cytochrome P450s"	20243	protein-coding gene	gene with protein product		615967					Standard	XM_005249792		Approved	FLJ20359, MGC34287	uc003sjq.1	Q8TAV3	OTTHUMG00000074071	ENST00000308919.7:c.749C>T	7.37:g.1026363C>T	ENSP00000310149:p.Ala250Val					CYP2W1_ENST00000308919.7_Missense_Mutation_p.A250V	p.A194V			Q8TAV3	CP2W1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;1.74e-15)	5	603	+		Ovarian(82;0.0112)	250						Missense_Mutation	SNP	ENST00000308919.7	37	c.581C>T	CCDS5319.2	.	.	.	.	.	.	.	.	.	.	C	10.88	1.476010	0.26511	.	.	ENSG00000073067	ENST00000308919;ENST00000340150;ENST00000415893	T;T;T	0.68765	-0.35;-0.35;-0.35	4.05	-1.45	0.08828	.	0.834169	0.11118	N	0.597694	T	0.53012	0.1770	M	0.62723	1.935	0.09310	N	1	B;P	0.43633	0.29;0.813	B;B	0.33568	0.066;0.166	T	0.49370	-0.8947	10	0.87932	D	0	.	4.7088	0.12863	0.4926:0.2884:0.0:0.219	.	194;250	A6NJ10;Q8TAV3	.;CP2W1_HUMAN	V	250;194;24	ENSP00000310149:A250V;ENSP00000344178:A194V;ENSP00000392581:A24V	ENSP00000310149:A250V	A	+	2	0	CYP2W1	992889	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.105000	0.03323	-0.173000	0.10761	-1.156000	0.01807	GCG		0.672	CYP2W1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157249.1	NM_017781		10	21	0	0	0	1	0	10	21					T	1026363	C	T	1026363	3	4	271	1	0	0	0	0	1	0	0	0	4176	768	27	1	767	1	CYP2W1	7	1026363	Missense_Mutation	SNP	C	TCGA-J4-A67S-01A-11D-A30E-08		1026363	158112300	7	12627											
RSPO2	340419	broad.mit.edu	37	chr8	109001362	109001362	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caggcactctccatactggcGcatcccttctcttcgaagga	8	10	8	15	2	2	0	0	0	2	0	6	2	3	1	2	3	1	2	2	3	2	3			TCGA-J4-A67S-01A-11D-A30E-08	TCGA-J4-A67S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f76caec-6872-4f66-a84d-5c31c5cc24c5	b384da3b-69cc-4f3a-a804-090440fa25f6	g.chr8:109001362G>A	ENST00000276659.5	-	3	825	c.205C>T	c.(205-207)Cgc>Tgc	p.R69C	RSPO2_ENST00000517781.1_Intron|RSPO2_ENST00000378439.2_Intron|RSPO2_ENST00000517939.1_Missense_Mutation_p.R2C	NM_178565.4	NP_848660.3	Q6UXX9	RSPO2_HUMAN	R-spondin 2	69					bone mineralization (GO:0030282)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|lung growth (GO:0060437)|osteoblast differentiation (GO:0001649)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|trachea cartilage morphogenesis (GO:0060535)|Wnt signaling pathway (GO:0016055)	cell surface (GO:0009986)|extracellular region (GO:0005576)	heparin binding (GO:0008201)|receptor binding (GO:0005102)		EIF3E/RSPO2(6)	haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	28			OV - Ovarian serous cystadenocarcinoma(57;1.55e-09)			CCATACTGGCGCATCCCTTCT	0.473																																						ENST00000276659.5																		EIF3E/RSPO2(6)	0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	28						c.(205-207)Cgc>Tgc		R-spondin 2							121	99	106					8																	109001362		2203	4300	6503	SO:0001583	missense	340419				Wnt receptor signaling pathway	extracellular region	heparin binding	g.chr8:109001362G>A	AK123023	CCDS6307.1, CCDS64953.1	8q23.1	2014-01-30	2011-06-29		ENSG00000147655	ENSG00000147655		"Endogenous ligands"	28583	protein-coding gene	gene with protein product		610575	"R-spondin 2 homolog (Xenopus laevis)"			15469841	Standard	NM_178565		Approved	MGC35555	uc003yms.3	Q6UXX9	OTTHUMG00000164893	ENST00000276659.5:c.205C>T	8.37:g.109001362G>A	ENSP00000276659:p.Arg69Cys					RSPO2_ENST00000378439.2_Intron|RSPO2_ENST00000517939.1_Missense_Mutation_p.R2C|RSPO2_ENST00000517781.1_Intron	p.R69C	NM_178565.4	NP_848660.3	Q6UXX9	RSPO2_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;1.55e-09)		3	825	-			69					B3KVP0|Q4G0U4|Q8N6X6	Missense_Mutation	SNP	ENST00000276659.5	37	c.205C>T	CCDS6307.1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.257135	0.80246	.	.	ENSG00000147655	ENST00000517939;ENST00000276659;ENST00000521502;ENST00000521757;ENST00000521956;ENST00000520026;ENST00000522333	T;T;T;T;T;T;T	0.79033	-1.23;-1.23;-1.23;-1.23;-1.23;-1.23;-1.23	5.04	2.85	0.33270	Growth factor, receptor (1);	0.048247	0.64402	D	0.000001	D	0.85885	0.5801	M	0.74467	2.265	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.86809	0.1997	10	0.72032	D	0.01	-1.5052	11.5156	0.50520	0.0:0.0:0.3984:0.6016	.	69	Q6UXX9	RSPO2_HUMAN	C	2;69;2;2;69;41;69	ENSP00000428940:R2C;ENSP00000276659:R69C;ENSP00000428614:R2C;ENSP00000430485:R2C;ENSP00000430010:R69C;ENSP00000429159:R41C;ENSP00000430973:R69C	ENSP00000276659:R69C	R	-	1	0	RSPO2	109070538	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.320000	0.59203	1.205000	0.43262	0.557000	0.71058	CGC		0.473	RSPO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380830.1	NM_178565		15	66	0	0	0	1	0	15	66					A	109001362	G	A	109001362	3	1	271	1	0	0	0	0	1	0	0	0	13710	1087	38	1	542	1	RSPO2	8	109001362	Missense_Mutation	SNP	G	TCGA-J4-A67S-01A-11D-A30E-08		109001362	37362660	8	12628											
CDH23	64072	broad.mit.edu	37	chr10	73544680	73544680	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atccgggtgctggacatcaaCgacaacgaccctgtgctgct	9	8	11	13	3	1	0	1	0	0	0	2	3	2	1	2	2	5	3	2	2	2	0			TCGA-J4-A67S-01A-11D-A30E-08	TCGA-J4-A67S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f76caec-6872-4f66-a84d-5c31c5cc24c5	b384da3b-69cc-4f3a-a804-090440fa25f6	g.chr10:73544680C>T	ENST00000224721.6	+	42	5555	c.5550C>T	c.(5548-5550)aaC>aaT	p.N1850N		NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	1845	Cadherin 17. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium ion transport (GO:0006816)|calcium-dependent cell-cell adhesion (GO:0016339)|cytosolic calcium ion homeostasis (GO:0051480)|equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						TGGACATCAACGACAACGACC	0.597																																						ENST00000224721.6																			0				NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						c.(5548-5550)aaC>aaT		cadherin-related 23							84	89	87					10																	73544680		2184	4279	6463	SO:0001819	synonymous_variant	64072				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding	g.chr10:73544680C>T	AY010111	CCDS53540.1, CCDS73146.1	10q22.1	2014-08-08	2010-01-25		ENSG00000107736	ENSG00000107736		"Cadherins / Cadherin-related"	13733	protein-coding gene	gene with protein product	"cadherin-related family member 23"	605516	"cadherin related 23", "cadherin-like 23"	DFNB12, USH1D		11090341	Standard	NM_022124		Approved	CDHR23	uc001jrx.4	Q9H251	OTTHUMG00000019347	ENST00000224721.6:c.5550C>T	10.37:g.73544680C>T							p.N1850N	NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN			42	5555	+			1845			Cadherin 17.		C4IXS9|F6U049|Q5QGS1|Q5QGS2|Q5QGS5|Q5QGS6|Q5XKN2|Q6UWW1|Q96JL3|Q9H4K9	Silent	SNP	ENST00000224721.6	37	c.5550C>T																																																																																					0.597	CDH23-001	PUTATIVE	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000051227.4	NM_052836		20	43	0	0	0	1	0	20	43					T	73544680	C	T	73544680	2	4	271	1	0	0	0	0	0	0	0	1	3108	535	19	1		1	CDH23	10	73544680	Silent	SNP	C	TCGA-J4-A67S-01A-11D-A30E-08		73544680	61990067	9	12629											
OR5B17	219965	broad.mit.edu	37	chr11	58126185	58126185	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gttacacactgctgcgtagcGgtcataggccattgaggaca	10	9	12	10	2	1	1	1	1	0	0	1	2	1	2	1	3	4	3	1	3	3	4	rs142474037		TCGA-J4-A67S-01A-11D-A30E-08	TCGA-J4-A67S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f76caec-6872-4f66-a84d-5c31c5cc24c5	b384da3b-69cc-4f3a-a804-090440fa25f6	g.chr11:58126185G>A	ENST00000357377.3	-	1	357	c.358C>T	c.(358-360)Cgc>Tgc	p.R120C		NM_001005489.1	NP_001005489.1	Q8NGF7	OR5BH_HUMAN	olfactory receptor, family 5, subfamily B, member 17	120						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R120C(1)		NS(1)|autonomic_ganglia(1)|endometrium(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				GCTGCGTAGCGGTCATAGGCC	0.473																																						ENST00000357377.3																			1	Substitution - Missense(1)	p.R120C(1)	large_intestine(1)	NS(1)|autonomic_ganglia(1)|endometrium(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						c.(358-360)Cgc>Tgc		olfactory receptor, family 5, subfamily B, member 17		G	CYS/ARG	1,4401	2.1+/-5.4	0,1,2200	124	111	115		358	2.7	0.8	11	dbSNP_134	115	2,8588	2.2+/-6.3	0,2,4293	yes	missense	OR5B17	NM_001005489.1	180	0,3,6493	AA,AG,GG		0.0233,0.0227,0.0231	benign	120/315	58126185	3,12989	2201	4295	6496	SO:0001583	missense	219965				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:58126185G>A	AB065849	CCDS31548.1	11q12.1	2012-08-09			ENSG00000197786	ENSG00000197786		"GPCR / Class A : Olfactory receptors"	15267	protein-coding gene	gene with protein product				OR5B20P			Standard	NM_001005489		Approved		uc010rke.2	Q8NGF7	OTTHUMG00000167465	ENST00000357377.3:c.358C>T	11.37:g.58126185G>A	ENSP00000349945:p.Arg120Cys						p.R120C	NM_001005489.1	NP_001005489.1	Q8NGF7	OR5BH_HUMAN			1	357	-	Esophageal squamous(5;0.0027)	Breast(21;0.0778)	120					Q6IEX1	Missense_Mutation	SNP	ENST00000357377.3	37	c.358C>T	CCDS31548.1	.	.	.	.	.	.	.	.	.	.	g	11.97	1.797199	0.31777	2.27E-4	2.33E-4	ENSG00000197786	ENST00000357377	T	0.77358	-1.09	3.6	2.67	0.31697	GPCR, rhodopsin-like superfamily (1);	0.208574	0.24033	N	0.042165	T	0.77212	0.4097	M	0.86268	2.805	0.31811	N	0.627163	P	0.34412	0.453	B	0.32928	0.155	T	0.79843	-0.1632	10	0.72032	D	0.01	-0.7041	9.8508	0.41055	0.1056:0.0:0.8944:0.0	.	120	Q8NGF7	OR5BH_HUMAN	C	120	ENSP00000349945:R120C	ENSP00000349945:R120C	R	-	1	0	OR5B17	57882761	0.018000	0.18449	0.811000	0.32455	0.649000	0.38597	1.672000	0.37523	0.717000	0.32145	0.461000	0.40582	CGC		0.473	OR5B17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394708.2	NM_001005489		4	84	0	0	0	1	0	4	84					A	58126185	G	A	58126185	3	1	271	1	0	0	0	0	1	0	0	0	11149	1116	39	2	588	2	OR5B17	11	58126185	Missense_Mutation	SNP	G	TCGA-J4-A67S-01A-11D-A30E-08		58126185	76880331	10	12630											
NARS2	79731	broad.mit.edu	37	chr11	78277282	78277282	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aggatattgtcgcagatactCcagaggatgcctctctttat	10	13	9	9	1	1	2	0	0	1	2	4	4	2	4	2	2	2	1	2	2	3	5			TCGA-J4-A67S-01A-11D-A30E-08	TCGA-J4-A67S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f76caec-6872-4f66-a84d-5c31c5cc24c5	b384da3b-69cc-4f3a-a804-090440fa25f6	g.chr11:78277282C>A	ENST00000281038.5	-	4	784	c.409G>T	c.(409-411)Gag>Tag	p.E137*	NARS2_ENST00000528850.1_5'UTR	NM_001243251.1|NM_024678.5	NP_001230180.1|NP_078954.4	Q96I59	SYNM_HUMAN	asparaginyl-tRNA synthetase 2, mitochondrial (putative)	137					asparaginyl-tRNA aminoacylation (GO:0006421)|gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrion (GO:0005739)	asparagine-tRNA ligase activity (GO:0004816)|ATP binding (GO:0005524)|nucleic acid binding (GO:0003676)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(9)|ovary(2)|prostate(2)|skin(1)	27	all_cancers(14;2.63e-17)|all_epithelial(13;1.85e-19)				L-Asparagine(DB00174)	CGCAGATACTCCAGAGGATGC	0.373																																						ENST00000281038.5																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(9)|ovary(2)|prostate(2)|skin(1)	27						c.(409-411)Gag>Tag		asparaginyl-tRNA synthetase 2, mitochondrial (putative)	L-Asparagine(DB00174)						82	80	80					11																	78277282		2200	4291	6491	SO:0001587	stop_gained	79731				asparaginyl-tRNA aminoacylation	mitochondrial matrix	asparagine-tRNA ligase activity|ATP binding|nucleic acid binding	g.chr11:78277282C>A	BC007800	CCDS8261.1, CCDS58164.1	11q14.1	2011-07-01	2007-02-23		ENSG00000137513	ENSG00000137513	6.1.1.22	"Aminoacyl tRNA synthetases / Class II"	26274	protein-coding gene	gene with protein product	"asparagine tRNA ligase 2, mitochondrial (putative)"	612803				15779907	Standard	NM_024678		Approved	FLJ23441, SLM5	uc001ozi.3	Q96I59	OTTHUMG00000166702	ENST00000281038.5:c.409G>T	11.37:g.78277282C>A	ENSP00000281038:p.Glu137*					NARS2_ENST00000528850.1_5'UTR	p.E137*	NM_001243251.1|NM_024678.5	NP_001230180.1|NP_078954.4	Q96I59	SYNM_HUMAN			4	784	-	all_cancers(14;2.63e-17)|all_epithelial(13;1.85e-19)		137					G3V178	Nonsense_Mutation	SNP	ENST00000281038.5	37	c.409G>T	CCDS8261.1	.	.	.	.	.	.	.	.	.	.	C	37	6.027549	0.97216	.	.	ENSG00000137513	ENST00000281038;ENST00000529880	.	.	.	5.13	5.13	0.70059	.	0.050939	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-16.3883	17.7175	0.88342	0.0:1.0:0.0:0.0	.	.	.	.	X	137	.	ENSP00000281038:E137X	E	-	1	0	NARS2	77954930	1.000000	0.71417	0.998000	0.56505	0.592000	0.36648	6.850000	0.75420	2.547000	0.85894	0.655000	0.94253	GAG		0.373	NARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391138.2	NM_024678		5	82	1	0	0.000602214	1	0.000622288	5	82					A	78277282	C	A	78277282	4	1	271	1	0	0	0	0	0	1	0	0	10171	864	30	5	1068	5	NARS2	11	78277282	Nonsense_Mutation	SNP	C	TCGA-J4-A67S-01A-11D-A30E-08	20151097	78277282	56729234	11	12631											
NCAPD3	23310	broad.mit.edu	37	chr11	134079319	134079319	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcgaatttgagaaaggtccCgggcagaaaaacaaatattc	16	9	9	7	2	0	2	0	1	0	2	3	4	1	2	1	2	1	1	1	2	6	4			TCGA-J4-A67S-01A-11D-A30E-08	TCGA-J4-A67S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f76caec-6872-4f66-a84d-5c31c5cc24c5	b384da3b-69cc-4f3a-a804-090440fa25f6	g.chr11:134079319C>T	ENST00000534548.2	-	5	684	c.620G>A	c.(619-621)cGg>cAg	p.R207Q		NM_015261.2	NP_056076.1	P42695	CNDD3_HUMAN	non-SMC condensin II complex, subunit D3	207					mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	germinal vesicle (GO:0042585)|membrane (GO:0016020)|nuclear condensin complex (GO:0000799)|nuclear pericentric heterochromatin (GO:0031618)|nucleoplasm (GO:0005654)	methylated histone binding (GO:0035064)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_hematologic(175;0.127)	all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227)		AGAAAGGTCCCGGGCAGAAAA	0.343																																						ENST00000534548.2																			0				NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						c.(619-621)cGg>cAg		non-SMC condensin II complex, subunit D3							43	47	45					11																	134079319		2200	4297	6497	SO:0001583	missense	23310				cell division|mitotic chromosome condensation	nuclear centromeric heterochromatin|nuclear condensin complex	methylated histone residue binding	g.chr11:134079319C>T	AK124878	CCDS31723.1	11q25	2008-02-04			ENSG00000151503	ENSG00000151503			28952	protein-coding gene	gene with protein product		609276				7584044, 8619474, 14532007	Standard	NM_015261		Approved	hCAP-D3, CAP-D3, hHCP-6, KIAA0056, FLJ42888, hcp-6	uc001qhd.1	P42695	OTTHUMG00000167172	ENST00000534548.2:c.620G>A	11.37:g.134079319C>T	ENSP00000433681:p.Arg207Gln						p.R207Q	NM_015261.2	NP_056076.1	P42695	CNDD3_HUMAN		Epithelial(10;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227)	5	684	-	all_hematologic(175;0.127)	all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)	207					A6NFS2|Q4KMQ9	Missense_Mutation	SNP	ENST00000534548.2	37	c.620G>A	CCDS31723.1	.	.	.	.	.	.	.	.	.	.	C	0.171	-1.071169	0.01918	.	.	ENSG00000151503	ENST00000534548	T	0.20463	2.07	5.43	0.233	0.15386	.	0.657045	0.16975	N	0.191925	T	0.11836	0.0288	L	0.33485	1.01	0.09310	N	1	B	0.12630	0.006	B	0.06405	0.002	T	0.38779	-0.9645	10	0.09843	T	0.71	-1.6014	7.3951	0.26931	0.1103:0.5329:0.0:0.3568	.	207	P42695	CNDD3_HUMAN	Q	207	ENSP00000433681:R207Q	ENSP00000431612:R207Q	R	-	2	0	NCAPD3	133584529	0.000000	0.05858	0.017000	0.16124	0.180000	0.23129	0.033000	0.13754	-0.065000	0.13021	-0.813000	0.03139	CGG		0.343	NCAPD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393575.2	NM_015261		4	56	0	0	0	1	0	4	56					T	134079319	C	T	134079319	3	4	271	1	0	0	0	0	1	0	0	0	10206	652	23	2	4000	2	NCAPD3	11	134079319	Missense_Mutation	SNP	C	TCGA-J4-A67S-01A-11D-A30E-08	55802037	134079319	927197	12	12632											
VPS13C	54832	broad.mit.edu	37	chr15	62173140	62173140	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	taaggccatttcctgaatgaGgaccataaaatacctaagaa	17	9	7	8	0	0	3	0	2	0	1	1	4	1	4	4	2	1	0	4	2	7	5			TCGA-J4-A67S-01A-11D-A30E-08	TCGA-J4-A67S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f76caec-6872-4f66-a84d-5c31c5cc24c5	b384da3b-69cc-4f3a-a804-090440fa25f6	g.chr15:62173140G>T	ENST00000261517.5	-	72	9863	c.9790C>A	c.(9790-9792)Ctc>Atc	p.L3264I	VPS13C_ENST00000558919.1_5'UTR|VPS13C_ENST00000395896.4_Missense_Mutation_p.L3264I|VPS13C_ENST00000249837.3_Missense_Mutation_p.L3221I|VPS13C_ENST00000395898.3_Missense_Mutation_p.L3221I	NM_020821.2	NP_065872.1			vacuolar protein sorting 13 homolog C (S. cerevisiae)											NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						TCCTGAATGAGGACCATAAAA	0.338																																						ENST00000261517.5																			0				NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						c.(9790-9792)Ctc>Atc		vacuolar protein sorting 13 homolog C (S. cerevisiae)							44	47	46					15																	62173140		2198	4296	6494	SO:0001583	missense	54832				protein localization			g.chr15:62173140G>T	AJ608770	CCDS10180.1, CCDS32257.1, CCDS45272.1, CCDS58367.1	15q21.3	2009-07-09	2006-04-04		ENSG00000129003	ENSG00000129003			23594	protein-coding gene	gene with protein product		608879	"vacuolar protein sorting 13C (yeast)"				Standard	NM_018080		Approved	FLJ20136, FLJ10381, KIAA1421	uc002agz.3	Q709C8	OTTHUMG00000132801	ENST00000261517.5:c.9790C>A	15.37:g.62173140G>T	ENSP00000261517:p.Leu3264Ile					VPS13C_ENST00000395898.3_Missense_Mutation_p.L3221I|VPS13C_ENST00000395896.4_Missense_Mutation_p.L3264I|VPS13C_ENST00000249837.3_Missense_Mutation_p.L3221I|VPS13C_ENST00000558919.1_5'UTR	p.L3264I	NM_020821.2	NP_065872.1	Q709C8	VP13C_HUMAN			72	9863	-			3264						Missense_Mutation	SNP	ENST00000261517.5	37	c.9790C>A	CCDS32257.1	.	.	.	.	.	.	.	.	.	.	G	18.00	3.524619	0.64747	.	.	ENSG00000129003	ENST00000249837;ENST00000261517;ENST00000395896;ENST00000395898	D;D;D;T	0.83673	-1.75;-1.75;-1.75;-1.37	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	D	0.91274	0.7249	M	0.86097	2.795	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;0.996	D	0.92147	0.5725	10	0.87932	D	0	.	12.7906	0.57530	0.0747:0.0:0.9253:0.0	.	3221;3264;3221;3264	Q709C8-4;Q709C8-2;Q709C8-3;Q709C8	.;.;.;VP13C_HUMAN	I	3221;3264;3264;3264	ENSP00000249837:L3221I;ENSP00000261517:L3264I;ENSP00000379233:L3264I;ENSP00000379235:L3264I	ENSP00000249837:L3221I	L	-	1	0	VPS13C	59960432	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.157000	0.50716	2.616000	0.88540	0.650000	0.86243	CTC		0.338	VPS13C-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000415997.1	NM_017684		3	54	1	0	1	1	1	3	54					T	62173140	G	T	62173140	3	4	271	1	0	0	0	0	1	0	0	0	17188	1000	35	5	1555	5	VPS13C	15	62173140	Missense_Mutation	SNP	G	TCGA-J4-A67S-01A-11D-A30E-08		62173140	40358252	13	12633											
ZNF774	342132	broad.mit.edu	37	chr15	90904247	90904247	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cgccctcattaagcaccaacGaatccacaccggagaaagac	15	4	7	15	3	1	2	1	0	0	2	2	4	2	2	4	1	2	1	4	1	4	1			TCGA-J4-A67S-01A-11D-A30E-08	TCGA-J4-A67S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f76caec-6872-4f66-a84d-5c31c5cc24c5	b384da3b-69cc-4f3a-a804-090440fa25f6	g.chr15:90904247G>A	ENST00000354377.3	+	4	1370	c.1184G>A	c.(1183-1185)cGa>cAa	p.R395Q	ZNF774_ENST00000379090.5_Intron	NM_001004309.2	NP_001004309.2	Q6NX45	ZN774_HUMAN	zinc finger protein 774	395					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(4)|prostate(1)|stomach(1)	14	Melanoma(11;0.00551)|Lung NSC(78;0.0158)|all_lung(78;0.0331)		BRCA - Breast invasive adenocarcinoma(143;0.0224)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)			AAGCACCAACGAATCCACACC	0.498																																						ENST00000354377.3																			0				breast(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(4)|prostate(1)|stomach(1)	14						c.(1183-1185)cGa>cAa		zinc finger protein 774							72	67	68					15																	90904247		2199	4298	6497	SO:0001583	missense	342132				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr15:90904247G>A	BC067279	CCDS32330.1	15q26.1	2013-01-08				ENSG00000196391		"Zinc fingers, C2H2-type"	33108	protein-coding gene	gene with protein product							Standard	NM_001004309		Approved	MGC75360	uc002bpk.4	Q6NX45		ENST00000354377.3:c.1184G>A	15.37:g.90904247G>A	ENSP00000346348:p.Arg395Gln					ZNF774_ENST00000379090.5_Intron	p.R395Q	NM_001004309.2	NP_001004309.2	Q6NX45	ZN774_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0224)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)		4	1370	+	Melanoma(11;0.00551)|Lung NSC(78;0.0158)|all_lung(78;0.0331)		395					A8K020	Missense_Mutation	SNP	ENST00000354377.3	37	c.1184G>A	CCDS32330.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.273349	0.80580	.	.	ENSG00000196391	ENST00000354377	T	0.24723	1.84	5.51	4.6	0.57074	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.32028	N	0.006685	T	0.46946	0.1419	M	0.64567	1.98	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.46062	-0.9218	10	0.66056	D	0.02	.	12.3334	0.55051	0.083:0.0:0.917:0.0	.	395	Q6NX45	ZN774_HUMAN	Q	395	ENSP00000346348:R395Q	ENSP00000346348:R395Q	R	+	2	0	ZNF774	88705251	0.073000	0.21202	0.018000	0.16275	0.823000	0.46562	1.995000	0.40767	1.334000	0.45468	-0.254000	0.11334	CGA		0.498	ZNF774-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418048.1	NM_001004309		27	79	0	0	0	1	0	27	79					A	90904247	G	A	90904247	3	1	271	1	0	0	0	0	1	0	0	0	18144	1058	37	2	1194	2	ZNF774	15	90904247	Missense_Mutation	SNP	G	TCGA-J4-A67S-01A-11D-A30E-08	28731107	90904247	11627145	14	12634											
SRCAP	10847	broad.mit.edu	37	chr16	30715429	30715429	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agcaatcctgtgtcccctgcCtcatccagttccccagcctc	6	10	6	19	0	1	0	1	0	0	0	6	0	5	0	8	0	3	2	8	0	1	1			TCGA-J4-A67S-01A-11D-A30E-08	TCGA-J4-A67S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f76caec-6872-4f66-a84d-5c31c5cc24c5	b384da3b-69cc-4f3a-a804-090440fa25f6	g.chr16:30715429C>T	ENST00000262518.4	+	4	484	c.99C>T	c.(97-99)gcC>gcT	p.A33A	SRCAP_ENST00000395059.2_Silent_p.A33A|RNU6-1043P_ENST00000410355.1_RNA|SRCAP_ENST00000344771.4_Silent_p.A33A	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	33					histone acetylation (GO:0016573)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			TGTCCCCTGCCTCATCCAGTT	0.552																																						ENST00000262518.4																			0				NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136						c.(97-99)gcC>gcT		Snf2-related CREBBP activator protein							70	72	71					16																	30715429		1986	4156	6142	SO:0001819	synonymous_variant	10847				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity	g.chr16:30715429C>T	AB002307	CCDS10689.2	16p11.2	2009-08-06			ENSG00000080603	ENSG00000080603			16974	protein-coding gene	gene with protein product	"Swi2/Snf2-related ATPase homolog (S. cerevisiae)", "domino homolog 1 (Drosophila)"	611421				10347196, 9205841	Standard	NM_006662		Approved	KIAA0309, EAF1, SWR1, DOMO1	uc002dze.1	Q6ZRS2	OTTHUMG00000132393	ENST00000262518.4:c.99C>T	16.37:g.30715429C>T						SRCAP_ENST00000395059.2_Silent_p.A33A|SRCAP_ENST00000344771.4_Silent_p.A33A	p.A33A	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Colorectal(24;0.198)		4	484	+			33					B0JZA6|O15026|Q7Z744|Q9Y5L9	Silent	SNP	ENST00000262518.4	37	c.99C>T	CCDS10689.2																																																																																				0.552	SRCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255523.1	NM_006662		31	108	0	0	0	1	0	31	108					T	30715429	C	T	30715429	2	4	271	1	0	0	0	0	0	0	0	1	15134	668	24	3		3	SRCAP	16	30715429	Silent	SNP	C	TCGA-J4-A67S-01A-11D-A30E-08		30715429	59639324	15	12635											
SLC38A8	146167	broad.mit.edu	37	chr16	84075582	84075582	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ccggggacttaccagctccaCcaggaaggcagggaccactc	10	4	12	15	1	0	0	0	0	0	0	2	3	1	3	5	5	2	2	5	5	2	1			TCGA-J4-A67S-01A-11D-A30E-08	TCGA-J4-A67S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f76caec-6872-4f66-a84d-5c31c5cc24c5	b384da3b-69cc-4f3a-a804-090440fa25f6	g.chr16:84075582C>T	ENST00000299709.3	-	1	180	c.181G>A	c.(181-183)Gtg>Atg	p.V61M	RNA5SP432_ENST00000362480.1_RNA	NM_001080442.1	NP_001073911.1	A6NNN8	S38A8_HUMAN	solute carrier family 38, member 8	61					amino acid transport (GO:0006865)|sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	26						ACCAGCTCCACCAGGAAGGCA	0.632																																						ENST00000299709.3																			0				central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	26						c.(181-183)Gtg>Atg		solute carrier family 38, member 8							72	81	78					16																	84075582		2200	4300	6500	SO:0001583	missense	146167				amino acid transport|sodium ion transport	integral to membrane		g.chr16:84075582C>T		CCDS32495.1	16q23.3	2013-05-22				ENSG00000166558		"Solute carriers"	32434	protein-coding gene	gene with protein product		615585					Standard	XM_006721135		Approved		uc002fhg.1	A6NNN8		ENST00000299709.3:c.181G>A	16.37:g.84075582C>T	ENSP00000299709:p.Val61Met						p.V61M	NM_001080442.1	NP_001073911.1	A6NNN8	S38A8_HUMAN			1	180	-			61						Missense_Mutation	SNP	ENST00000299709.3	37	c.181G>A	CCDS32495.1	.	.	.	.	.	.	.	.	.	.	C	10.87	1.473459	0.26423	.	.	ENSG00000166558	ENST00000299709	T	0.02280	4.36	4.91	2.57	0.30868	.	0.310296	0.30302	N	0.009935	T	0.02970	0.0088	L	0.39085	1.19	0.51233	D	0.999912	P	0.46578	0.88	B	0.44133	0.442	T	0.60929	-0.7165	10	0.44086	T	0.13	.	12.1404	0.53994	0.0:0.8338:0.0:0.1662	.	61	A6NNN8	S38A8_HUMAN	M	61	ENSP00000299709:V61M	ENSP00000299709:V61M	V	-	1	0	SLC38A8	82633083	1.000000	0.71417	0.997000	0.53966	0.911000	0.54048	2.852000	0.48310	1.067000	0.40740	0.650000	0.86243	GTG		0.632	SLC38A8-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432623.1	NM_001080442		33	119	0	0	0	1	0	33	119					T	84075582	C	T	84075582	3	4	271	1	0	0	0	0	1	0	0	0	14610	507	18	3	1166	3	SLC38A8	16	84075582	Missense_Mutation	SNP	C	TCGA-J4-A67S-01A-11D-A30E-08	53360153	84075582	6279171	16	12636											
KRT27	342574	broad.mit.edu	37	chr17	38938515	38938515	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcattgccagagaggaggccGtgctcattccctgtgaaggc	8	9	13	11	1	2	2	2	1	0	1	3	4	3	3	3	3	2	1	3	3	1	2			TCGA-J4-A67S-01A-11D-A30E-08	TCGA-J4-A67S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f76caec-6872-4f66-a84d-5c31c5cc24c5	b384da3b-69cc-4f3a-a804-090440fa25f6	g.chr17:38938515G>A	ENST00000301656.3	-	1	271	c.231C>T	c.(229-231)caC>caT	p.H77H		NM_181537.3	NP_853515.2			keratin 27											NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(3)|skin(1)|stomach(1)	21		Breast(137;0.000812)				AGAGGAGGCCGTGCTCATTCC	0.597																																						ENST00000301656.3																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(3)|skin(1)|stomach(1)	21						c.(229-231)caC>caT		keratin 27							135	118	124					17																	38938515		2203	4300	6503	SO:0001819	synonymous_variant	342574					cytoplasm|intermediate filament	structural molecule activity	g.chr17:38938515G>A	AJ564206	CCDS11375.1	17q21.2	2013-01-16	2006-07-17	2006-07-17	ENSG00000171446	ENSG00000171446		"-", "Intermediate filaments type I, keratins (acidic)"	30841	protein-coding gene	gene with protein product			"keratin 25C"	KRT25C		16831889	Standard	NM_181537		Approved		uc002hvg.3	Q7Z3Y8	OTTHUMG00000133371	ENST00000301656.3:c.231C>T	17.37:g.38938515G>A							p.H77H	NM_181537.3	NP_853515.2	Q7Z3Y8	K1C27_HUMAN			1	271	-		Breast(137;0.000812)	77			Gly-rich.|Head.			Silent	SNP	ENST00000301656.3	37	c.231C>T	CCDS11375.1																																																																																				0.597	KRT27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257216.1	NM_181537		31	93	0	0	0	1	0	31	93					A	38938515	G	A	38938515	2	1	271	1	0	0	0	0	0	0	0	1	8464	1136	40	1		1	KRT27	17	38938515	Silent	SNP	G	TCGA-J4-A67S-01A-11D-A30E-08		38938515	42256695	17	12637											
AXIN2	8313	broad.mit.edu	37	chr17	63526188	63526188	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cctcaaacaccgctccacagGcaaactcatcgcttgctttt	10	10	5	16	2	2	0	2	0	0	0	4	0	3	0	3	1	3	4	3	1	2	3			TCGA-J4-A67S-01A-11D-A30E-08	TCGA-J4-A67S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f76caec-6872-4f66-a84d-5c31c5cc24c5	b384da3b-69cc-4f3a-a804-090440fa25f6	g.chr17:63526188G>A	ENST00000375702.5	-	9	2351	c.2243C>T	c.(2242-2244)gCc>gTc	p.A748V	AXIN2_ENST00000307078.5_Missense_Mutation_p.A813V			Q9Y2T1	AXIN2_HUMAN	axin 2	813					bone mineralization (GO:0030282)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to organic cyclic compound (GO:0071407)|chondrocyte differentiation involved in endochondral bone morphogenesis (GO:0003413)|dorsal/ventral axis specification (GO:0009950)|intramembranous ossification (GO:0001957)|maintenance of DNA repeat elements (GO:0043570)|mRNA stabilization (GO:0048255)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catenin import into nucleus (GO:0035414)|negative regulation of cell proliferation (GO:0008285)|negative regulation of osteoblast differentiation (GO:0045668)|odontogenesis (GO:0042476)|positive regulation of cell death (GO:0010942)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein phosphorylation (GO:0001934)|regulation of centromeric sister chromatid cohesion (GO:0070602)|regulation of chondrocyte development (GO:0061181)|regulation of mismatch repair (GO:0032423)|secondary heart field specification (GO:0003139)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|Wnt signaling pathway involved in somitogenesis (GO:0090244)	beta-catenin destruction complex (GO:0030877)|cell cortex (GO:0005938)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoplasmic microtubule (GO:0005881)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	armadillo repeat domain binding (GO:0070016)|beta-catenin binding (GO:0008013)|enzyme binding (GO:0019899)|GTPase activator activity (GO:0005096)|protein kinase binding (GO:0019901)|ubiquitin protein ligase binding (GO:0031625)			NS(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	34						CGCTCCACAGGCAAACTCATC	0.453									Oligodontia, Ectodermal Dysplasia and Colorectal Polyp syndrome																													ENST00000307078.5																			0				NS(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	34						c.(2437-2439)gCc>gTc		axin 2							129	114	119					17																	63526188		2203	4300	6503	SO:0001583	missense	8313	Oligodontia, Ectodermal Dysplasia and Colorectal Polyp syndrome	Familial Cancer Database	Oligodontia-Colorectal Cancer syndrome, Tooth Agenesis-Colorectal Cancer Syndrome	cellular protein localization|cellular response to organic cyclic compound|dorsal/ventral axis specification|intramembranous ossification|maintenance of DNA repeat elements|mRNA stabilization|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of cell proliferation|negative regulation of osteoblast differentiation|odontogenesis|positive regulation of cell death|positive regulation of epithelial to mesenchymal transition|positive regulation of protein phosphorylation|regulation of centromeric sister chromatid cohesion|regulation of mismatch repair|Wnt receptor signaling pathway involved in somitogenesis	Axin-APC-beta-catenin-GSK3B complex|cell cortex|centrosome|cytoplasmic membrane-bounded vesicle|cytoplasmic microtubule|nucleus|plasma membrane|postsynaptic density	armadillo repeat domain binding|beta-catenin binding|GTPase activator activity|protein kinase binding|signal transducer activity|ubiquitin protein ligase binding	g.chr17:63526188G>A	AF078165	CCDS11662.1	17q24.1	2014-09-17	2008-08-01		ENSG00000168646				904	protein-coding gene	gene with protein product	"conductin", "axil"	604025				10049590	Standard	NM_004655		Approved	MGC126582, DKFZp781B0869	uc002jfi.3	Q9Y2T1	OTTHUMG00000179353	ENST00000375702.5:c.2243C>T	17.37:g.63526188G>A	ENSP00000364854:p.Ala748Val					AXIN2_ENST00000375702.5_Missense_Mutation_p.A748V	p.A813V	NM_004655.3	NP_004646.3	Q9Y2T1	AXIN2_HUMAN			11	2751	-			813			DIX.		Q3MJ88|Q9H3M6|Q9UH84	Missense_Mutation	SNP	ENST00000375702.5	37	c.2438C>T		.	.	.	.	.	.	.	.	.	.	G	20.8	4.053338	0.75960	.	.	ENSG00000168646	ENST00000307078;ENST00000375702	T;T	0.43688	0.94;0.94	5.57	4.55	0.56014	DIX (3);	0.095068	0.64402	D	0.000001	T	0.27900	0.0687	N	0.03608	-0.345	0.42210	D	0.991807	P;P	0.46142	0.873;0.671	P;B	0.48654	0.585;0.202	T	0.22068	-1.0227	10	0.66056	D	0.02	-29.6899	11.1206	0.48287	0.0:0.0:0.5924:0.4076	.	813;748	Q9Y2T1;E7ES00	AXIN2_HUMAN;.	V	813;748	ENSP00000302625:A813V;ENSP00000364854:A748V	ENSP00000302625:A813V	A	-	2	0	AXIN2	60956650	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	6.859000	0.75467	2.619000	0.88677	0.561000	0.74099	GCC		0.453	AXIN2-004	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000445901.1	NM_004655		4	128	0	0	0	1	0	4	128					A	63526188	G	A	63526188	3	1	271	1	0	0	0	0	1	0	0	0	1237	1203	42	3	97	3	AXIN2	17	63526188	Missense_Mutation	SNP	G	TCGA-J4-A67S-01A-11D-A30E-08	24587673	63526188	17669022	18	12638											
EPB41L3	23136	broad.mit.edu	37	chr18	5423443	5423443	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttcaaagtaaggtgctgggcGatctatcaacgcactggctc	10	10	11	10	2	3	0	2	0	1	0	4	1	3	0	0	3	2	4	0	3	4	3			TCGA-J4-A67S-01A-11D-A30E-08	TCGA-J4-A67S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f76caec-6872-4f66-a84d-5c31c5cc24c5	b384da3b-69cc-4f3a-a804-090440fa25f6	g.chr18:5423443G>A	ENST00000341928.2	-	11	1613	c.1273C>T	c.(1273-1275)Cgc>Tgc	p.R425C	EPB41L3_ENST00000400111.3_Missense_Mutation_p.R425C|EPB41L3_ENST00000542652.2_5'UTR|EPB41L3_ENST00000342933.3_Missense_Mutation_p.R425C|EPB41L3_ENST00000544123.1_Missense_Mutation_p.R425C|EPB41L3_ENST00000540638.2_Missense_Mutation_p.R425C	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	425	Hydrophilic.				apoptotic process (GO:0006915)|cortical actin cytoskeleton organization (GO:0030866)|cortical cytoskeleton organization (GO:0030865)|cytoskeletal anchoring at plasma membrane (GO:0007016)|myelin maintenance (GO:0043217)|neuron projection morphogenesis (GO:0048812)|paranodal junction assembly (GO:0030913)|protein localization to juxtaparanode region of axon (GO:0071205)|protein localization to paranode region of axon (GO:0002175)|protein localization to plasma membrane (GO:0072659)|regulation of cell shape (GO:0008360)	axolemma (GO:0030673)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)|juxtaparanode region of axon (GO:0044224)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						GGTGCTGGGCGATCTATCAAC	0.493																																						ENST00000341928.2																			0				breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						c.(1273-1275)Cgc>Tgc		erythrocyte membrane protein band 4.1-like 3							201	151	168					18																	5423443		2203	4300	6503	SO:0001583	missense	23136				cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity	g.chr18:5423443G>A	AB023204	CCDS11838.1, CCDS62381.1, CCDS62382.1	18p11.32	2006-06-28			ENSG00000082397	ENSG00000082397			3380	protein-coding gene	gene with protein product		605331				9828140, 9892180	Standard	NM_012307		Approved	DAL1, KIAA0987, 4.1B	uc002kmt.1	Q9Y2J2	OTTHUMG00000131562	ENST00000341928.2:c.1273C>T	18.37:g.5423443G>A	ENSP00000343158:p.Arg425Cys					EPB41L3_ENST00000540638.2_Missense_Mutation_p.R425C|EPB41L3_ENST00000544123.1_Missense_Mutation_p.R425C|EPB41L3_ENST00000400111.3_Missense_Mutation_p.R425C|EPB41L3_ENST00000342933.3_Missense_Mutation_p.R425C|EPB41L3_ENST00000542652.2_5'UTR	p.R425C	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN			11	1613	-			425			Hydrophilic.		B7Z4I5|F5GX05|O95713|Q9BRP5	Missense_Mutation	SNP	ENST00000341928.2	37	c.1273C>T	CCDS11838.1	.	.	.	.	.	.	.	.	.	.	G	24.3	4.518106	0.85495	.	.	ENSG00000082397	ENST00000341928;ENST00000540638;ENST00000544123;ENST00000545076;ENST00000342933;ENST00000400111	D;D;D;D	0.91686	-2.89;-2.89;-2.89;-2.89	6.08	6.08	0.98989	FERM adjacent (FA) (1);	0.000000	0.85682	D	0.000000	D	0.97417	0.9155	M	0.94021	3.485	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.997;0.999;0.998;0.999	D	0.97499	1.0059	10	0.87932	D	0	.	20.6721	0.99693	0.0:0.0:1.0:0.0	.	425;316;425;425	F5GX05;A8K968;Q9Y2J2-2;Q9Y2J2	.;.;.;E41L3_HUMAN	C	425;316;425;316;425;425	ENSP00000343158:R425C;ENSP00000441174:R425C;ENSP00000341138:R425C;ENSP00000382981:R425C	ENSP00000343158:R425C	R	-	1	0	EPB41L3	5413443	1.000000	0.71417	0.990000	0.47175	0.926000	0.56050	6.347000	0.73004	2.894000	0.99253	0.591000	0.81541	CGC		0.493	EPB41L3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254424.1	NM_012307		12	49	0	0	0	1	0	12	49					A	5423443	G	A	5423443	3	1	271	1	0	0	0	0	1	0	0	0	5154	1058	37	2	2038	2	EPB41L3	18	5423443	Missense_Mutation	SNP	G	TCGA-J4-A67S-01A-11D-A30E-08		5423443	72653805	19	12639											
PDE4A	5141	broad.mit.edu	37	chr19	10561280	10561280	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catttttttttttctgcaggCggtccccgctgggcggcccc	2	14	11	14	3	1	0	0	0	1	0	2	0	2	0	4	4	1	2	4	4	0	5	rs201436121		TCGA-J4-A67S-01A-11D-A30E-08	TCGA-J4-A67S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f76caec-6872-4f66-a84d-5c31c5cc24c5	b384da3b-69cc-4f3a-a804-090440fa25f6	g.chr19:10561280C>T	ENST00000352831.6	+	5	732	c.622C>T	c.(622-624)Cgg>Tgg	p.R208W	PDE4A_ENST00000592685.1_Splice_Site_p.R186W|PDE4A_ENST00000293683.5_Splice_Site_p.R182W|PDE4A_ENST00000344979.3_5'Flank|PDE4A_ENST00000440014.2_Splice_Site_p.R147W|PDE4A_ENST00000380702.2_Splice_Site_p.R186W	NM_001111307.1	NP_001104777.1	P27815	PDE4A_HUMAN	phosphodiesterase 4A, cAMP-specific	208					cAMP catabolic process (GO:0006198)|cellular response to drug (GO:0035690)|regulation of cAMP-mediated signaling (GO:0043949)|regulation of protein kinase A signaling (GO:0010738)|sensory perception of smell (GO:0007608)|signal transduction (GO:0007165)	cell projection (GO:0042995)|cytosol (GO:0005829)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|cAMP binding (GO:0030552)|metal ion binding (GO:0046872)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	27			OV - Ovarian serous cystadenocarcinoma(20;5.8e-10)|Epithelial(33;7.58e-07)|all cancers(31;3.91e-06)		Caffeine(DB00201)|Dipyridamole(DB00975)|Drotaverine(DB06751)|Dyphylline(DB00651)|Enprofylline(DB00824)|Ibudilast(DB05266)|Iloprost(DB01088)|Ketotifen(DB00920)|Oxtriphylline(DB01303)|Pentoxifylline(DB00806)|Roflumilast(DB01656)|Theophylline(DB00277)|Tofisopam(DB08811)	TTTCTGCAGGCGGTCCCCGCT	0.627																																						ENST00000380702.2																			0				NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	27						c.e6-1		phosphodiesterase 4A, cAMP-specific	Cilostazol(DB01166)|Dipyridamole(DB00975)|Dyphylline(DB00651)|Enprofylline(DB00824)|Iloprost(DB01088)|Milrinone(DB00235)|Pentoxifylline(DB00806)|Phentolamine(DB00692)|Tadalafil(DB00820)|Theophylline(DB00277)						11	15	14					19																	10561280		1564	3567	5131	SO:0001630	splice_region_variant	5141				signal transduction	cytosol|membrane fraction|perinuclear region of cytoplasm|ruffle membrane|soluble fraction	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|protein binding	g.chr19:10561280C>T		CCDS12238.1, CCDS45961.1, CCDS45962.1, CCDS45963.1, CCDS58649.1	19p13.2	2010-06-24	2010-06-24			ENSG00000065989	3.1.4.17	"Phosphodiesterases"	8780	protein-coding gene	gene with protein product	"phosphodiesterase E2 dunce homolog (Drosophila)"	600126	"phosphodiesterase 4A, cAMP-specific (dunce (Drosophila)-homolog phosphodiesterase E2)"	DPDE2		8009369	Standard	NM_006202		Approved		uc002moj.2	P27815		ENST00000352831.6:c.621-1C>T	19.37:g.10561280C>T						PDE4A_ENST00000352831.6_Splice_Site_p.R208_splice|PDE4A_ENST00000293683.5_Splice_Site_p.R182_splice|PDE4A_ENST00000592685.1_Splice_Site_p.R186_splice|PDE4A_ENST00000440014.2_Splice_Site_p.R147_splice	p.R186_splice			P27815	PDE4A_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;5.8e-10)|Epithelial(33;7.58e-07)|all cancers(31;3.91e-06)		6	556	+			208					O75522|O76092|Q16255|Q16691|Q5DM53|Q6PMT2|Q8IVA7|Q8WUQ3|Q9H3H2	Splice_Site	SNP	ENST00000352831.6	37	c.554_splice	CCDS45961.1	.	.	.	.	.	.	.	.	.	.	C	12.91	2.080803	0.36758	.	.	ENSG00000065989	ENST00000380702;ENST00000352831;ENST00000293683;ENST00000440014	T;T;T;T	0.71817	-0.6;-0.57;-0.58;-0.57	4.43	-0.879	0.10613	.	1.125910	0.06872	N	0.801005	T	0.74122	0.3675	M	0.87827	2.91	0.44908	D	0.997927	B;B;B	0.27351	0.054;0.176;0.056	B;B;B	0.23716	0.017;0.048;0.022	T	0.71027	-0.4711	10	0.87932	D	0	.	12.3236	0.54999	0.5783:0.4217:0.0:0.0	.	147;182;208	P27815-6;P27815-2;P27815	.;.;PDE4A_HUMAN	W	186;208;182;147	ENSP00000370078:R186W;ENSP00000270474:R208W;ENSP00000293683:R182W;ENSP00000394754:R147W	ENSP00000293683:R182W	R	+	1	2	PDE4A	10422280	0.715000	0.27946	0.985000	0.45067	0.714000	0.41099	-0.403000	0.07214	0.098000	0.17522	-0.196000	0.12772	CGG		0.627	PDE4A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000451244.1		Missense_Mutation	6	15	0	0	0	1	0	6	15					T	10561280	C	T	10561280	5	4	271	1	0	0	0	0	0	0	1	0	11639	782	27	1	1027	1	PDE4A	19	10561280	Splice_Site	SNP	C	TCGA-J4-A67S-01A-11D-A30E-08		10561280	48567703	20	12640											
CYP2F1	1572	broad.mit.edu	37	chr19	41622408	41622408	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagtgcacctgggacccaggCgggtggtggtcctcagcggg	5	6	18	12	2	1	0	1	0	0	0	2	1	2	1	3	6	2	1	3	6	0	0			TCGA-J4-A67S-01A-11D-A30E-08	TCGA-J4-A67S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f76caec-6872-4f66-a84d-5c31c5cc24c5	b384da3b-69cc-4f3a-a804-090440fa25f6	g.chr19:41622408C>T	ENST00000331105.2	+	3	292	c.220C>T	c.(220-222)Cgg>Tgg	p.R74W		NM_000774.3	NP_000765.2	P24903	CP2F1_HUMAN	cytochrome P450, family 2, subfamily F, polypeptide 1	74					naphthalene metabolic process (GO:0018931)|response to toxic substance (GO:0009636)|small molecule metabolic process (GO:0044281)|trichloroethylene metabolic process (GO:0018979)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen (GO:0016712)|oxygen binding (GO:0019825)			central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(2)|lung(11)|ovary(2)|skin(2)	29						GGGACCCAGGCGGGTGGTGGT	0.602																																						ENST00000331105.2																			0				central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(2)|lung(11)|ovary(2)|skin(2)	29						c.(220-222)Cgg>Tgg		cytochrome P450, family 2, subfamily F, polypeptide 1							116	112	113					19																	41622408		2203	4300	6503	SO:0001583	missense	1572				naphthalene metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding	g.chr19:41622408C>T	J02906	CCDS12572.1	19q13.1-q13.2	2008-02-05	2003-01-14		ENSG00000197446	ENSG00000197446		"Cytochrome P450s"	2632	protein-coding gene	gene with protein product		124070	"cytochrome P450, subfamily IIF, polypeptide 1"	CYP2F			Standard	NM_000774		Approved		uc002opu.1	P24903	OTTHUMG00000167412	ENST00000331105.2:c.220C>T	19.37:g.41622408C>T	ENSP00000333534:p.Arg74Trp						p.R74W	NM_000774.3	NP_000765.2	P24903	CP2F1_HUMAN			3	292	+			74					A7KAU6|A7KAU7|A7KAU8|A7KAU9|A7KAV0|Q32MN5|Q8WWJ2	Missense_Mutation	SNP	ENST00000331105.2	37	c.220C>T	CCDS12572.1	.	.	.	.	.	.	.	.	.	.	C	11.42	1.634616	0.29068	.	.	ENSG00000197446	ENST00000331105	T	0.12879	2.64	3.91	1.68	0.24146	.	0.312538	0.26719	N	0.022842	T	0.29976	0.0750	M	0.75264	2.295	0.09310	N	1	D;D	0.89917	1.0;1.0	D;D	0.68039	0.954;0.955	T	0.04373	-1.0956	10	0.87932	D	0	.	7.1498	0.25604	0.1696:0.735:0.0:0.0955	.	74;74	Q32MN5;P24903	.;CP2F1_HUMAN	W	74	ENSP00000333534:R74W	ENSP00000333534:R74W	R	+	1	2	CYP2F1	46314248	0.000000	0.05858	0.000000	0.03702	0.182000	0.23217	0.285000	0.18883	0.297000	0.22615	-0.282000	0.10007	CGG		0.602	CYP2F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394527.2			23	178	0	0	0	1	0	23	178					T	41622408	C	T	41622408	3	4	271	1	0	0	0	0	1	0	0	0	4171	759	27	1	226	1	CYP2F1	19	41622408	Missense_Mutation	SNP	C	TCGA-J4-A67S-01A-11D-A30E-08	31061128	41622408	17506575	21	12641											
GRIK1	2897	broad.mit.edu	37	chr21	30963507	30963507	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gacttgtctttgttgctgtcCgtcatgttaagcccactgtt	5	17	9	10	1	2	0	1	0	1	0	3	1	3	0	2	0	2	4	2	0	1	5	rs144528849		TCGA-J4-A67S-01A-11D-A30E-08	TCGA-J4-A67S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f76caec-6872-4f66-a84d-5c31c5cc24c5	b384da3b-69cc-4f3a-a804-090440fa25f6	g.chr21:30963507C>T	ENST00000399907.1	-	10	1701	c.1290G>A	c.(1288-1290)acG>acA	p.T430T	GRIK1_ENST00000389124.2_Silent_p.T430T|GRIK1_ENST00000535441.1_Silent_p.T432T|GRIK1_ENST00000309434.7_Silent_p.T432T|GRIK1_ENST00000399909.1_Silent_p.T415T|GRIK1_ENST00000327783.4_Silent_p.T430T|GRIK1_ENST00000389125.3_Silent_p.T415T|GRIK1_ENST00000399914.1_Silent_p.T415T|GRIK1_ENST00000399913.1_Silent_p.T430T	NM_000830.3	NP_000821.1	P39086	GRIK1_HUMAN	glutamate receptor, ionotropic, kainate 1	430					adult behavior (GO:0030534)|behavioral response to pain (GO:0048266)|central nervous system development (GO:0007417)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|nervous system development (GO:0007399)|positive regulation of gamma-aminobutyric acid secretion (GO:0014054)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	extracellular-glutamate-gated ion channel activity (GO:0005234)|kainate selective glutamate receptor activity (GO:0015277)	p.T430T(1)|p.T415T(1)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(18)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	45					Topiramate(DB00273)	TGTTGCTGTCCGTCATGTTAA	0.448																																						ENST00000399914.1																			2	Substitution - coding silent(2)	p.T430T(1)|p.T415T(1)	large_intestine(2)	NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(18)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	45						c.(1243-1245)acG>acA		glutamate receptor, ionotropic, kainate 1	L-Glutamic Acid(DB00142)|Topiramate(DB00273)	C	,	2,4404	4.2+/-10.8	0,2,2201	397	313	341		1290,1245	-10.1	0.1	21	dbSNP_134	341	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	GRIK1	NM_000830.3,NM_175611.2	,	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	,	430/919,415/906	30963507	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	2897				central nervous system development|synaptic transmission	cell junction|postsynaptic membrane	kainate selective glutamate receptor activity	g.chr21:30963507C>T		CCDS33530.1, CCDS42913.1	21q22	2012-08-29			ENSG00000171189	ENSG00000171189		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4579	protein-coding gene	gene with protein product		138245		GLUR5		8468067	Standard	XM_005260942		Approved	GluK1	uc002yno.1	P39086	OTTHUMG00000078879	ENST00000399907.1:c.1290G>A	21.37:g.30963507C>T						GRIK1_ENST00000535441.1_Silent_p.T432T|GRIK1_ENST00000309434.7_Silent_p.T432T|GRIK1_ENST00000389125.3_Silent_p.T415T|GRIK1_ENST00000399913.1_Silent_p.T430T|GRIK1_ENST00000399909.1_Silent_p.T415T|GRIK1_ENST00000327783.4_Silent_p.T430T|GRIK1_ENST00000389124.2_Silent_p.T430T|GRIK1_ENST00000399907.1_Silent_p.T430T	p.T415T			P39086	GRIK1_HUMAN			9	1766	-			430					Q13001|Q86SU9	Silent	SNP	ENST00000399907.1	37	c.1245G>A	CCDS42913.1																																																																																				0.448	GRIK1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000171979.1			6	175	0	0	0	1	0	6	175					T	30963507	C	T	30963507	2	4	271	1	0	0	0	0	0	0	0	1	6773	639	23	2		2	GRIK1	21	30963507	Silent	SNP	C	TCGA-J4-A67S-01A-11D-A30E-08		30963507	17166388	22	12642											
TRIOBP	11078	broad.mit.edu	37	chr22	38165192	38165192	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aggagctgctgcgccacaacCaggtgggcctggccccaggt	7	5	15	14	1	0	0	0	0	0	0	0	1	0	1	5	5	4	2	5	5	1	0			TCGA-J4-A67S-01A-11D-A30E-08	TCGA-J4-A67S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f76caec-6872-4f66-a84d-5c31c5cc24c5	b384da3b-69cc-4f3a-a804-090440fa25f6	g.chr22:38165192C>T	ENST00000406386.3	+	20	6988	c.6733C>T	c.(6733-6735)Cag>Tag	p.Q2245*	TRIOBP_ENST00000403663.2_Nonsense_Mutation_p.Q532*	NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	2245					actin modification (GO:0030047)|barbed-end actin filament capping (GO:0051016)|mitotic nuclear division (GO:0007067)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	actin filament binding (GO:0051015)|GTP-Rho binding (GO:0017049)|myosin II binding (GO:0045159)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					GCGCCACAACCAGGTGGGCCT	0.711																																						ENST00000406386.3																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						c.(6733-6735)Cag>Tag		TRIO and F-actin binding protein							11	14	13					22																	38165192		2138	4244	6382	SO:0001587	stop_gained	11078				actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding	g.chr22:38165192C>T	AB051449	CCDS33644.1, CCDS43015.1, CCDS43016.1	22q13.1	2014-06-03			ENSG00000100106	ENSG00000100106		"Pleckstrin homology (PH) domain containing"	17009	protein-coding gene	gene with protein product		609761		DFNB28		11148140, 16385457, 16385458	Standard	NM_001039141		Approved	HRIHFB2122, KIAA1662, Tara, TAP68	uc003atr.3	Q9H2D6	OTTHUMG00000150657	ENST00000406386.3:c.6733C>T	22.37:g.38165192C>T	ENSP00000384312:p.Gln2245*					TRIOBP_ENST00000403663.2_Nonsense_Mutation_p.Q532*|RP1-37E16.12_ENST00000455236.1_RNA	p.Q2245*	NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN			20	6988	+	Melanoma(58;0.0574)		2245					B1AHD4|B1AHD7|F2Z2W0|F8W6V6|O94797|Q2PZW8|Q2Q3Z9|Q2Q400|Q5R3M6|Q96DW1|Q9BT77|Q9BTL7|Q9BY98|Q9Y3L4	Nonsense_Mutation	SNP	ENST00000406386.3	37	c.6733C>T	CCDS43015.1	.	.	.	.	.	.	.	.	.	.	C	49	15.302683	0.99829	.	.	ENSG00000100106	ENST00000406386;ENST00000403663	.	.	.	4.96	4.96	0.65561	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.39692	T	0.17	.	18.2065	0.89857	0.0:1.0:0.0:0.0	.	.	.	.	X	2245;532	.	ENSP00000386026:Q532X	Q	+	1	0	TRIOBP	36495138	1.000000	0.71417	1.000000	0.80357	0.896000	0.52359	5.496000	0.66918	2.320000	0.78422	0.462000	0.41574	CAG		0.711	TRIOBP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319439.2			7	14	0	0	0	1	0	7	14					T	38165192	C	T	38165192	4	4	271	1	0	0	0	0	0	1	0	0	16550	595	21	3	7105	3	TRIOBP	22	38165192	Nonsense_Mutation	SNP	C	TCGA-J4-A67S-01A-11D-A30E-08		38165192	13139374	23	12643											
IRS4	8471	broad.mit.edu	37	chrX	107976000	107976000	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctctggcaaggtttgcagatGggttgtgggctccagggttc	5	12	16	8	0	1	1	0	0	1	1	3	1	2	1	1	5	1	6	1	5	1	3			TCGA-J4-A67S-01A-11D-A30E-08	TCGA-J4-A67S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f76caec-6872-4f66-a84d-5c31c5cc24c5	b384da3b-69cc-4f3a-a804-090440fa25f6	g.chrX:107976000G>A	ENST00000372129.2	-	1	3651	c.3575C>T	c.(3574-3576)cCa>cTa	p.P1192L	RP6-24A23.6_ENST00000563887.1_5'Flank	NM_003604.2	NP_003595.1	O14654	IRS4_HUMAN	insulin receptor substrate 4	1192	Ala-rich.				positive regulation of signal transduction (GO:0009967)|signal transduction (GO:0007165)	plasma membrane (GO:0005886)	SH3/SH2 adaptor activity (GO:0005070)|signal transducer activity (GO:0004871)			NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						GTTTGCAGATGGGTTGTGGGC	0.637																																						ENST00000372129.2																			0				NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						c.(3574-3576)cCa>cTa		insulin receptor substrate 4							68	71	70					X																	107976000		2202	4299	6501	SO:0001583	missense	8471					plasma membrane	insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity	g.chrX:107976000G>A	AF007567	CCDS14544.1	Xq22.3	2008-08-01			ENSG00000133124	ENSG00000133124			6128	protein-coding gene	gene with protein product		300904				9261155, 9553137	Standard	NM_003604		Approved	PY160, IRS-4	uc004eoc.2	O14654	OTTHUMG00000022181	ENST00000372129.2:c.3575C>T	X.37:g.107976000G>A	ENSP00000361202:p.Pro1192Leu						p.P1192L	NM_003604.2	NP_003595.1	O14654	IRS4_HUMAN			1	3651	-			1192			Ala-rich.			Missense_Mutation	SNP	ENST00000372129.2	37	c.3575C>T	CCDS14544.1	.	.	.	.	.	.	.	.	.	.	G	14.18	2.457842	0.43634	.	.	ENSG00000133124	ENST00000372129	T	0.37584	1.19	4.39	0.527	0.17084	.	0.882047	0.09806	N	0.753483	T	0.20941	0.0504	N	0.24115	0.695	0.09310	N	1	B	0.09022	0.002	B	0.08055	0.003	T	0.23940	-1.0174	10	0.48119	T	0.1	3.2935	2.9353	0.05812	0.342:0.0:0.4529:0.2051	.	1192	O14654	IRS4_HUMAN	L	1192	ENSP00000361202:P1192L	ENSP00000361202:P1192L	P	-	2	0	IRS4	107862656	0.085000	0.21516	0.001000	0.08648	0.001000	0.01503	0.533000	0.23082	-0.035000	0.13691	-0.191000	0.12829	CCA		0.637	IRS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057879.1	NM_003604		6	130	0	0	0	1	0	6	130					A	107976000	G	A	107976000	3	1	271	1	0	0	0	0	1	0	0	0	7842	1348	47	3	202	3	IRS4	23	107976000	Missense_Mutation	SNP	G	TCGA-J4-A67S-01A-11D-A30E-08		107976000	47294560	24	12644											
ENO1	2023	broad.mit.edu	37	chr1	8926458	8926458	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtaaacctctgctccaatgcGcatggcttccctgaagtttg	8	12	9	12	1	1	1	0	1	1	0	3	1	3	1	3	1	3	5	3	1	4	3			TCGA-J4-A67T-01A-11D-A30X-08	TCGA-J4-A67T-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb55b533-2220-4d8f-acd7-7ac806c1d861	cb7197cc-fc88-47ec-918b-d942f90df5cf	g.chr1:8926458G>A	ENST00000234590.4	-	7	666	c.547C>T	c.(547-549)Cgc>Tgc	p.R183C		NM_001428.3	NP_001419.1	P06733	ENOA_HUMAN	enolase 1, (alpha)	183	Required for repression of c-myc promoter activity.				carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|negative regulation of cell growth (GO:0030308)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|response to virus (GO:0009615)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|phosphopyruvate hydratase complex (GO:0000015)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|magnesium ion binding (GO:0000287)|phosphopyruvate hydratase activity (GO:0004634)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	10	Ovarian(185;0.0661)|all_lung(157;0.127)	all_epithelial(116;2.54e-20)|all_lung(118;2.99e-06)|Lung NSC(185;6.25e-06)|Renal(390;0.000147)|Breast(348;0.00086)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;2.42e-07)|COAD - Colon adenocarcinoma(227;2.78e-05)|Kidney(185;0.000249)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.00177)|BRCA - Breast invasive adenocarcinoma(304;0.00185)|READ - Rectum adenocarcinoma(331;0.0642)		GCTCCAATGCGCATGGCTTCC	0.512																																					Esophageal Squamous(21;302 608 19946 22210 33560)	ENST00000234590.4																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	10						c.(547-549)Cgc>Tgc		enolase 1, (alpha)							141	132	135					1																	8926458		2203	4300	6503	SO:0001583	missense	2023				gluconeogenesis|glycolysis|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|response to virus	phosphopyruvate hydratase complex|plasma membrane|sarcomere	DNA binding|magnesium ion binding|phosphopyruvate hydratase activity|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr1:8926458G>A	BC022545	CCDS97.1	1p36.2	2010-03-11			ENSG00000074800	ENSG00000074800	4.2.1.11		3350	protein-coding gene	gene with protein product		172430		ENO1L1, MPB1		9653645, 9691177	Standard	NM_001428		Approved	PPH, MBP-1	uc001apj.2	P06733	OTTHUMG00000001773	ENST00000234590.4:c.547C>T	1.37:g.8926458G>A	ENSP00000234590:p.Arg183Cys						p.R183C	NM_001428.3	NP_001419.1	P06733	ENOA_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;2.42e-07)|COAD - Colon adenocarcinoma(227;2.78e-05)|Kidney(185;0.000249)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.00177)|BRCA - Breast invasive adenocarcinoma(304;0.00185)|READ - Rectum adenocarcinoma(331;0.0642)	7	666	-	Ovarian(185;0.0661)|all_lung(157;0.127)	all_epithelial(116;2.54e-20)|all_lung(118;2.99e-06)|Lung NSC(185;6.25e-06)|Renal(390;0.000147)|Breast(348;0.00086)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)	183			Required for repression of c-myc promoter activity.		B2RD59|P22712|Q16704|Q4TUS4|Q53FT9|Q53HR3|Q658M5|Q6GMP2|Q71V37|Q7Z3V6|Q8WU71|Q96GV1|Q9BT62|Q9UCH6|Q9UM55	Missense_Mutation	SNP	ENST00000234590.4	37	c.547C>T	CCDS97.1	.	.	.	.	.	.	.	.	.	.	G	19.56	3.849934	0.71603	.	.	ENSG00000074800	ENST00000234590	T	0.58358	0.34	5.33	5.33	0.75918	Enolase, C-terminal (1);	0.052249	0.85682	N	0.000000	T	0.63792	0.2541	M	0.87097	2.86	0.80722	D	1	B;B;B;B;B	0.31769	0.194;0.238;0.339;0.161;0.194	B;B;B;B;B	0.34991	0.102;0.123;0.193;0.061;0.102	T	0.69720	-0.5069	10	0.87932	D	0	-2.9305	18.013	0.89230	0.0:0.0:1.0:0.0	.	87;150;21;90;183	E2DRY6;A4UCS8;Q9BT62;P06733-2;P06733	.;.;.;.;ENOA_HUMAN	C	183	ENSP00000234590:R183C	ENSP00000234590:R183C	R	-	1	0	ENO1	8849045	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	7.984000	0.88150	2.492000	0.84095	0.563000	0.77884	CGC		0.512	ENO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004945.1	NM_001428		4	122	0	0	0	1	0	4	122					A	8926458	G	A	8926458	3	1	272	1	0	0	0	0	1	0	0	0	5121	1087	38	1	781	1	ENO1	1	8926458	Missense_Mutation	SNP	G	TCGA-J4-A67T-01A-11D-A30X-08		8926458	240324163	1	12645											
KPRP	448834	broad.mit.edu	37	chr1	152733118	152733118	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgagattcctcccatcagaCgccgctcccagagctgtggc	7	9	10	15	2	1	3	1	1	0	3	4	4	4	3	4	1	1	2	4	1	0	2			TCGA-J4-A67T-01A-11D-A30X-08	TCGA-J4-A67T-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb55b533-2220-4d8f-acd7-7ac806c1d861	cb7197cc-fc88-47ec-918b-d942f90df5cf	g.chr1:152733118C>T	ENST00000606109.1	+	1	1082	c.1054C>T	c.(1054-1056)Cgc>Tgc	p.R352C	KPRP_ENST00000368773.1_Missense_Mutation_p.R352C			Q5T749	KPRP_HUMAN	keratinocyte proline-rich protein	352	Pro-rich.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)				NS(1)|breast(1)|endometrium(9)|kidney(1)|large_intestine(10)|lung(21)|ovary(6)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCCCATCAGACGCCGCTCCCA	0.652																																						ENST00000368773.1																			0				NS(1)|breast(1)|endometrium(9)|kidney(1)|large_intestine(10)|lung(21)|ovary(6)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						c.(1054-1056)Cgc>Tgc		keratinocyte proline-rich protein							45	48	47					1																	152733118		2203	4300	6503	SO:0001583	missense	448834					cytoplasm		g.chr1:152733118C>T	AY960854	CCDS30862.1	1q21.3	2008-02-05	2007-02-02	2006-12-07	ENSG00000203786	ENSG00000203786			31823	protein-coding gene	gene with protein product		613260	"chromosome 1 open reading frame 45"	C1orf45		16297201	Standard	NM_001025231		Approved		uc001fal.1	Q5T749	OTTHUMG00000012402	ENST00000606109.1:c.1054C>T	1.37:g.152733118C>T	ENSP00000475216:p.Arg352Cys					KPRP_ENST00000606109.1_Missense_Mutation_p.R352C	p.R352C	NM_001025231.1	NP_001020402.1	Q5T749	KPRP_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	1112	+	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		352			Pro-rich.			Missense_Mutation	SNP	ENST00000606109.1	37	c.1054C>T	CCDS30862.1	.	.	.	.	.	.	.	.	.	.	C	15.12	2.740417	0.49045	.	.	ENSG00000203786	ENST00000368773	T	0.13420	2.59	5.3	4.38	0.52667	.	0.142018	0.32769	N	0.005675	T	0.09774	0.0240	L	0.27053	0.805	0.33555	D	0.596616	D	0.69078	0.997	P	0.56474	0.799	T	0.04551	-1.0943	10	0.66056	D	0.02	-13.5765	11.0822	0.48066	0.0:0.7053:0.2947:0.0	.	352	Q5T749	KPRP_HUMAN	C	352	ENSP00000357762:R352C	ENSP00000357762:R352C	R	+	1	0	KPRP	150999742	0.483000	0.25956	0.730000	0.30809	0.644000	0.38419	0.422000	0.21296	1.336000	0.45506	0.462000	0.41574	CGC		0.652	KPRP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034522.2	NM_001025231		6	61	0	0	0	1	0	6	61					T	152733118	C	T	152733118	3	4	272	1	0	0	0	0	1	0	0	0	8436	536	19	1	1056	1	KPRP	1	152733118	Missense_Mutation	SNP	C	TCGA-J4-A67T-01A-11D-A30X-08	143806660	152733118	96517503	2	12646											
F5	2153	broad.mit.edu	37	chr1	169511343	169511343	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaaactttgggtggccactCtgctttccaggcttgttggc	5	13	13	10	0	1	0	0	0	1	0	2	1	2	1	2	5	2	3	2	5	1	4			TCGA-J4-A67T-01A-11D-A30X-08	TCGA-J4-A67T-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb55b533-2220-4d8f-acd7-7ac806c1d861	cb7197cc-fc88-47ec-918b-d942f90df5cf	g.chr1:169511343C>A	ENST00000367797.3	-	13	3186	c.2985G>T	c.(2983-2985)caG>caT	p.Q995H	F5_ENST00000367796.3_Missense_Mutation_p.Q1000H	NM_000130.4	NP_000121	P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	995	B.				blood circulation (GO:0008015)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)|vesicle (GO:0031982)	copper ion binding (GO:0005507)			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				ART-123(DB05777)|Drotrecogin alfa(DB00055)	GGTGGCCACTCTGCTTTCCAG	0.468																																						ENST00000367796.3																			0				NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128						c.(2998-3000)caG>caT		coagulation factor V (proaccelerin, labile factor)	Drotrecogin alfa(DB00055)						135	143	140					1																	169511343		2203	4300	6503	SO:0001583	missense	2153				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity	g.chr1:169511343C>A	M14335	CCDS1281.1	1q23	2012-10-02			ENSG00000198734	ENSG00000198734			3542	protein-coding gene	gene with protein product		612309					Standard	NM_000130		Approved		uc001ggg.1	P12259	OTTHUMG00000034595	ENST00000367797.3:c.2985G>T	1.37:g.169511343C>A	ENSP00000356771:p.Gln995His					F5_ENST00000367797.3_Missense_Mutation_p.Q995H	p.Q1000H			P12259	FA5_HUMAN			13	3201	-	all_hematologic(923;0.208)		995			B.		A8K6E8|Q14285|Q2EHR5|Q5R346|Q5R347|Q6UPU6|Q8WWQ6	Missense_Mutation	SNP	ENST00000367797.3	37	c.3000G>T	CCDS1281.1	.	.	.	.	.	.	.	.	.	.	C	9.201	1.028536	0.19512	.	.	ENSG00000198734	ENST00000367797;ENST00000367796	T;T	0.20881	2.04;2.04	5.08	-5.02	0.02982	.	0.922522	0.09211	N	0.833265	T	0.02767	0.0083	N	0.24115	0.695	0.21355	N	0.999715	B	0.06786	0.001	B	0.04013	0.001	T	0.41734	-0.9492	9	0.44086	T	0.13	0.0848	0.2349	0.00184	0.2299:0.1982:0.2387:0.3332	.	995	P12259	FA5_HUMAN	H	995;1000	ENSP00000356771:Q995H;ENSP00000356770:Q1000H	ENSP00000356770:Q1000H	Q	-	3	2	F5	167777967	0.000000	0.05858	0.000000	0.03702	0.023000	0.10783	-0.293000	0.08320	-0.801000	0.04427	-0.262000	0.10625	CAG		0.468	F5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000083712.1	NM_000130		34	130	1	0	2.87052e-16	1	2.98534e-16	34	130					A	169511343	C	A	169511343	3	1	272	1	0	0	0	0	1	0	0	0	5348	912	32	5	3741	5	F5	1	169511343	Missense_Mutation	SNP	C	TCGA-J4-A67T-01A-11D-A30X-08	16778225	169511343	79739278	3	12647											
LCT	3938	broad.mit.edu	37	chr2	136558282	136558282	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcacgccaccttgactggcGcggtacacatcgttgtacag	9	9	10	13	4	1	1	1	1	0	0	2	1	1	1	2	2	2	3	2	2	2	4	rs573401319	byFrequency	TCGA-J4-A67T-01A-11D-A30X-08	TCGA-J4-A67T-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb55b533-2220-4d8f-acd7-7ac806c1d861	cb7197cc-fc88-47ec-918b-d942f90df5cf	g.chr2:136558282G>A	ENST00000264162.2	-	12	4771	c.4761C>T	c.(4759-4761)cgC>cgT	p.R1587R		NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	1587	4 X approximate repeats.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	glycosylceramidase activity (GO:0017042)|lactase activity (GO:0000016)			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)	Vitamin C(DB00126)	CTTGACTGGCGCGGTACACAT	0.547													G|||	2	0.000399361	8e-04	0.0014	5008	,	,		19917	0		0	False		,,,				2504	0					ENST00000264162.2																			0				breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124						c.(4759-4761)cgC>cgT		lactase							102	93	96					2																	136558282		2203	4300	6503	SO:0001819	synonymous_variant	3938				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity	g.chr2:136558282G>A	X07994	CCDS2178.1	2q21	2014-09-17			ENSG00000115850	ENSG00000115850	3.2.1.108, 3.2.1.62		6530	protein-coding gene	gene with protein product		603202					Standard	NM_002299		Approved		uc002tuu.1	P09848	OTTHUMG00000131738	ENST00000264162.2:c.4761C>T	2.37:g.136558282G>A							p.R1587R	NM_002299.2	NP_002290.2	P09848	LPH_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.169)	12	4771	-			1587			4 X approximate repeats.		Q4ZG58	Silent	SNP	ENST00000264162.2	37	c.4761C>T	CCDS2178.1																																																																																				0.547	LCT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254657.1	NM_002299		11	55	0	0	0	1	0	11	55					A	136558282	G	A	136558282	2	1	272	1	0	0	0	0	0	0	0	1	8693	1074	38	1		1	LCT	2	136558282	Silent	SNP	G	TCGA-J4-A67T-01A-11D-A30X-08		136558282	106641091	4	12648											
PTH2R	5746	broad.mit.edu	37	chr2	209307106	209307106	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cagcaagaattctttgaacgCctctatgtaatgtataccgt	12	13	7	9	2	2	2	0	1	2	1	2	2	2	2	2	0	3	3	2	0	7	6			TCGA-J4-A67T-01A-11D-A30X-08	TCGA-J4-A67T-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb55b533-2220-4d8f-acd7-7ac806c1d861	cb7197cc-fc88-47ec-918b-d942f90df5cf	g.chr2:209307106C>T	ENST00000272847.2	+	5	642	c.429C>T	c.(427-429)cgC>cgT	p.R143R	PTH2R_ENST00000413482.1_3'UTR	NM_005048.2	NP_005039.1	P49190	PTH2R_HUMAN	parathyroid hormone 2 receptor	143					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	parathyroid hormone receptor activity (GO:0004991)			breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(21)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43				Epithelial(149;0.0684)|Lung(261;0.0785)|LUSC - Lung squamous cell carcinoma(261;0.0836)	Preotact(DB05829)	TCTTTGAACGCCTCTATGTAA	0.398																																						ENST00000272847.2																			0				breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(21)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43						c.(427-429)cgC>cgT		parathyroid hormone 2 receptor							375	324	341					2																	209307106		2203	4300	6503	SO:0001819	synonymous_variant	5746					integral to plasma membrane	parathyroid hormone receptor activity	g.chr2:209307106C>T	BC036811	CCDS2383.1	2q33	2012-08-10	2007-08-24	2007-08-24	ENSG00000144407	ENSG00000144407		"GPCR / Class B : Parathyroid hormone receptors"	9609	protein-coding gene	gene with protein product		601469	"parathyroid hormone receptor 2"	PTHR2			Standard	NM_005048		Approved		uc002vdb.4	P49190	OTTHUMG00000132960	ENST00000272847.2:c.429C>T	2.37:g.209307106C>T						PTH2R_ENST00000413482.1_3'UTR	p.R143R	NM_005048.2	NP_005039.1	P49190	PTH2R_HUMAN		Epithelial(149;0.0684)|Lung(261;0.0785)|LUSC - Lung squamous cell carcinoma(261;0.0836)	5	642	+			143					Q8N429	Silent	SNP	ENST00000272847.2	37	c.429C>T	CCDS2383.1																																																																																				0.398	PTH2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256519.2	NM_005048		18	116	0	0	0	1	0	18	116					T	209307106	C	T	209307106	2	4	272	1	0	0	0	0	0	0	0	1	12760	726	26	3		3	PTH2R	2	209307106	Silent	SNP	C	TCGA-J4-A67T-01A-11D-A30X-08	72748824	209307106	33892267	5	12649											
ROBO1	6091	broad.mit.edu	37	chr3	78666863	78666863	+	Frame_Shift_Del	DEL	C	C	-																															tgcgactgcctgggcaaagtCagcatcagtgaaaaaggagc																										TCGA-J4-A67T-01A-11D-A30X-08	TCGA-J4-A67T-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb55b533-2220-4d8f-acd7-7ac806c1d861	cb7197cc-fc88-47ec-918b-d942f90df5cf	g.chr3:78666863delC	ENST00000464233.1	-	27	4317	c.4204delG	c.(4204-4206)gacfs	p.D1402fs	ROBO1_ENST00000495273.1_Frame_Shift_Del_p.D1357fs|ROBO1_ENST00000436010.2_Frame_Shift_Del_p.D1363fs|ROBO1_ENST00000467549.1_Frame_Shift_Del_p.D1302fs	NM_002941.3	NP_002932.1	Q9Y6N7	ROBO1_HUMAN	roundabout, axon guidance receptor, homolog 1 (Drosophila)	1402					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|cell adhesion (GO:0007155)|cell migration involved in sprouting angiogenesis (GO:0002042)|chemorepulsion involved in postnatal olfactory bulb interneuron migration (GO:0021836)|homophilic cell adhesion (GO:0007156)|mammary duct terminal end bud growth (GO:0060763)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|negative regulation of negative chemotaxis (GO:0050925)|nervous system development (GO:0007399)|positive regulation of axonogenesis (GO:0050772)|Roundabout signaling pathway (GO:0035385)	axolemma (GO:0030673)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	axon guidance receptor activity (GO:0008046)|identical protein binding (GO:0042802)|LRR domain binding (GO:0030275)			breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1)	44		Lung SC(41;0.0257)|Lung NSC(201;0.0439)		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)		TGGGCAAAGTCAGCATCAGTG	0.552																																						ENST00000436010.2																			0				breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1)	44						c.(4087-4089)acfs		roundabout, axon guidance receptor, homolog 1 (Drosophila)							61	65	64					3																	78666863		1976	4139	6115	SO:0001589	frameshift_variant	6091				activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis|Roundabout signaling pathway	cell surface|cytoplasm|integral to plasma membrane	axon guidance receptor activity|identical protein binding|LRR domain binding	g.chr3:78666863delC	AF040990	CCDS46872.1, CCDS46872.2, CCDS54610.1, CCDS54611.1	3p12.3	2013-02-11	2001-11-28		ENSG00000169855	ENSG00000169855		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	10249	protein-coding gene	gene with protein product		602430	"roundabout (axon guidance receptor, Drosophila) homolog 1"			9458045, 9608531	Standard	NM_002941		Approved	DUTT1, FLJ21882, SAX3	uc003dqe.2	Q9Y6N7	OTTHUMG00000158843	ENST00000464233.1:c.4204delG	3.37:g.78666863delC	ENSP00000420321:p.Asp1402fs					ROBO1_ENST00000467549.1_Frame_Shift_Del_p.D1302fs|ROBO1_ENST00000495273.1_Frame_Shift_Del_p.D1357fs|ROBO1_ENST00000464233.1_Frame_Shift_Del_p.D1402fs	p.D1363fs			Q9Y6N7	ROBO1_HUMAN		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)	25	5084	-		Lung SC(41;0.0257)|Lung NSC(201;0.0439)	1402					B2RXI1|D3DU36|E9PD49|Q1RMC7|Q7Z300|Q9BUS7	Frame_Shift_Del	DEL	ENST00000464233.1	37	c.4087delG	CCDS54611.1																																																																																				0.552	ROBO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352610.1	NM_002941		9	41						9	41	---	---	---	---	-	78666863	C	-	78666863	7	5	272	1	0	1	0	1	0	0	0	0	13513	826	29	0	771	0	ROBO1	3	78666863	Frame_Shift_Del	DEL	C	TCGA-J4-A67T-01A-11D-A30X-08		78666863	119355567	6	12650											
DPPA4	55211	broad.mit.edu	37	chr3	109050826	109050826	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aatggagggattggtatcttCttctgaggtctggggttgtc	6	15	15	5	0	4	1	0	1	4	0	5	3	4	3	0	6	0	2	0	6	2	5			TCGA-J4-A67T-01A-11D-A30X-08	TCGA-J4-A67T-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb55b533-2220-4d8f-acd7-7ac806c1d861	cb7197cc-fc88-47ec-918b-d942f90df5cf	g.chr3:109050826C>T	ENST00000335658.6	-	3	285	c.231G>A	c.(229-231)aaG>aaA	p.K77K	DPPA4_ENST00000478791.1_5'UTR	NM_018189.3	NP_060659.3	Q7L190	DPPA4_HUMAN	developmental pluripotency associated 4	77					lung-associated mesenchyme development (GO:0060484)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(17)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	25						TTGGTATCTTCTTCTGAGGTC	0.463																																						ENST00000335658.6																			0				central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(17)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	25						c.(229-231)aaG>aaA		developmental pluripotency associated 4							188	185	186					3																	109050826		2203	4300	6503	SO:0001819	synonymous_variant	55211					nucleus	protein binding	g.chr3:109050826C>T	AK001575	CCDS33814.1	3q13.13	2014-01-28			ENSG00000121570	ENSG00000121570			19200	protein-coding gene	gene with protein product		614125					Standard	NM_018189		Approved	FLJ10713	uc003dxq.4	Q7L190	OTTHUMG00000159222	ENST00000335658.6:c.231G>A	3.37:g.109050826C>T						DPPA4_ENST00000478791.1_5'UTR	p.K77K	NM_018189.3	NP_060659.3	Q7L190	DPPA4_HUMAN			3	285	-			77					A8K4M7|Q9H9N5|Q9NVI6	Silent	SNP	ENST00000335658.6	37	c.231G>A	CCDS33814.1																																																																																				0.463	DPPA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353897.1	NM_018189		7	134	0	0	0	1	0	7	134					T	109050826	C	T	109050826	2	4	272	1	0	0	0	0	0	0	0	1	4736	912	32	3		3	DPPA4	3	109050826	Silent	SNP	C	TCGA-J4-A67T-01A-11D-A30X-08	30383963	109050826	88971604	7	12651											
COL25A1	84570	broad.mit.edu	37	chr4	109767343	109767343	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ttttcacctgtcatacctggGtcccccatgtctccctttga	5	15	6	15	0	3	1	2	1	1	0	5	1	4	1	5	1	1	0	5	1	1	4			TCGA-J4-A67T-01A-11D-A30X-08	TCGA-J4-A67T-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb55b533-2220-4d8f-acd7-7ac806c1d861	cb7197cc-fc88-47ec-918b-d942f90df5cf	g.chr4:109767343G>A	ENST00000399132.1	-	28	1997	c.1467C>T	c.(1465-1467)gaC>gaT	p.D489D	COL25A1_ENST00000399127.1_Silent_p.D462D|COL25A1_ENST00000399126.1_Silent_p.D489D	NM_198721.2	NP_942014.1			collagen, type XXV, alpha 1											NS(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	49		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000173)		TCATACCTGGGTCCCCCATGT	0.388																																						ENST00000399132.1																			0				NS(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	49						c.(1465-1467)gaC>gaT		collagen, type XXV, alpha 1							123	119	120					4																	109767343		1840	4091	5931	SO:0001819	synonymous_variant	84570					collagen|extracellular space	beta-amyloid binding|heparin binding	g.chr4:109767343G>A	AF293340	CCDS43258.1, CCDS43259.1, CCDS58922.1	4q25	2013-01-16			ENSG00000188517	ENSG00000188517		"Collagens"	18603	protein-coding gene	gene with protein product		610004				11927537	Standard	NM_001256074		Approved		uc003hze.2	Q9BXS0	OTTHUMG00000150039	ENST00000399132.1:c.1467C>T	4.37:g.109767343G>A						COL25A1_ENST00000399127.1_Silent_p.D462D|COL25A1_ENST00000399126.1_Silent_p.D489D	p.D489D	NM_198721.2	NP_942014.1	Q9BXS0	COPA1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000173)	28	1997	-		Hepatocellular(203;0.217)	489			Collagen-like 6.			Silent	SNP	ENST00000399132.1	37	c.1467C>T	CCDS43258.1																																																																																				0.388	COL25A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315938.2	NM_032518		23	69	0	0	0	1	0	23	69					A	109767343	G	A	109767343	2	1	272	1	0	0	0	0	0	0	0	1	3684	1252	44	3		3	COL25A1	4	109767343	Silent	SNP	G	TCGA-J4-A67T-01A-11D-A30X-08		109767343	81386933	8	12652											
ZFR	51663	broad.mit.edu	37	chr5	32403259	32403259	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tttcttggcagccatatttgTaggcactgctgatactttag	8	16	9	8	0	1	1	0	1	1	0	1	1	1	1	1	2	3	4	1	2	4	8			TCGA-J4-A67T-01A-11D-A30X-08	TCGA-J4-A67T-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb55b533-2220-4d8f-acd7-7ac806c1d861	cb7197cc-fc88-47ec-918b-d942f90df5cf	g.chr5:32403259T>A	ENST00000265069.8	-	8	1570	c.1468A>T	c.(1468-1470)Aca>Tca	p.T490S		NM_016107.3	NP_057191.2	Q96KR1	ZFR_HUMAN	zinc finger RNA binding protein	490					multicellular organismal development (GO:0007275)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|upper_aerodigestive_tract(2)	32				STAD - Stomach adenocarcinoma(35;0.19)		GCCATATTTGTAGGCACTGCT	0.403																																						ENST00000265069.8																			0				breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|upper_aerodigestive_tract(2)	32						c.(1468-1470)Aca>Tca		zinc finger RNA binding protein							157	151	153					5																	32403259		2203	4300	6503	SO:0001583	missense	51663				multicellular organismal development	chromosome|cytoplasm|nucleus	DNA binding|RNA binding|zinc ion binding	g.chr5:32403259T>A	AF100742	CCDS34139.1	5p15.2	2014-03-03			ENSG00000056097	ENSG00000056097			17277	protein-coding gene	gene with protein product		615635				11574164, 24482476	Standard	NM_016107		Approved	ZFR1, SPG71	uc003jhr.1	Q96KR1	OTTHUMG00000161979	ENST00000265069.8:c.1468A>T	5.37:g.32403259T>A	ENSP00000265069:p.Thr490Ser						p.T490S	NM_016107.3	NP_057191.2	Q96KR1	ZFR_HUMAN		STAD - Stomach adenocarcinoma(35;0.19)	8	1570	-			490					B2RNR5|Q05C08|Q3B7X5|Q6P5A3|Q86UA0|Q9H6V4|Q9NTI1|Q9Y687	Missense_Mutation	SNP	ENST00000265069.8	37	c.1468A>T	CCDS34139.1	.	.	.	.	.	.	.	.	.	.	T	11.71	1.720464	0.30503	.	.	ENSG00000056097	ENST00000265069;ENST00000382126	T	0.04654	3.58	5.73	3.41	0.39046	.	0.527191	0.22501	N	0.059228	T	0.02119	0.0066	N	0.03608	-0.345	0.34064	D	0.657588	B	0.12013	0.005	B	0.14023	0.01	T	0.39165	-0.9627	10	0.20046	T	0.44	.	7.2587	0.26191	0.0:0.2891:0.0:0.7109	.	490	Q96KR1	ZFR_HUMAN	S	490;468	ENSP00000265069:T490S	ENSP00000265069:T490S	T	-	1	0	ZFR	32439016	0.998000	0.40836	1.000000	0.80357	0.963000	0.63663	0.375000	0.20518	1.020000	0.39573	0.402000	0.26972	ACA		0.403	ZFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366586.1			15	83	0	0	0	1	0	15	83					A	32403259	T	A	32403259	3	1	272	1	0	0	0	0	1	0	0	0	17656	1638	57	5	1808	5	ZFR	5	32403259	Missense_Mutation	SNP	T	TCGA-J4-A67T-01A-11D-A30X-08		32403259	148512001	9	12653											
PCDHB2	56133	broad.mit.edu	37	chr5	140474539	140474539	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	aatttgttaaaagacctgggGctggagataggagaacttgc	13	10	13	5	0	0	3	0	0	0	3	0	5	0	3	1	4	2	2	1	4	5	4			TCGA-J4-A67T-01A-11D-A30X-08	TCGA-J4-A67T-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb55b533-2220-4d8f-acd7-7ac806c1d861	cb7197cc-fc88-47ec-918b-d942f90df5cf	g.chr5:140474539G>T	ENST00000194155.4	+	1	313	c.165G>T	c.(163-165)ggG>ggT	p.G55G		NM_018936.2	NP_061759.1	Q9Y5E7	PCDB2_HUMAN	protocadherin beta 2	55	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AAGACCTGGGGCTGGAGATAG	0.512																																						ENST00000194155.4																			0				NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	71						c.(163-165)ggG>ggT									59	66	63					5																	140474539		2203	4300	6503	SO:0001819	synonymous_variant	0				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	g.chr5:140474539G>T	AF152495	CCDS4244.1	5q31	2010-01-26			ENSG00000112852	ENSG00000112852		"Cadherins / Protocadherins : Clustered"	8687	other	protocadherin		606328				10380929	Standard	NM_018936		Approved	PCDH-BETA2	uc003lil.3	Q9Y5E7	OTTHUMG00000129606	ENST00000194155.4:c.165G>T	5.37:g.140474539G>T							p.G55G	NM_018936.2	NP_061759.1	Q9Y5E7	PCDB2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	313	+			55			Cadherin 1.		Q4KMU1	Silent	SNP	ENST00000194155.4	37	c.165G>T	CCDS4244.1																																																																																				0.512	PCDHB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251801.2	NM_018936		4	57	1	0	0.00024832	1	0.00024832	4	57					T	140474539	G	T	140474539	2	4	272	1	0	0	0	0	0	0	0	1	11542	1190	42	5		5	PCDHB2	5	140474539	Silent	SNP	G	TCGA-J4-A67T-01A-11D-A30X-08	108071280	140474539	40440721	10	12654											
FAM135B	51059	broad.mit.edu	37	chr8	139278013	139278013	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttatgggtacctcttcattcCggtataagatctgaaagacc	11	13	8	9	1	3	3	1	1	2	2	4	3	4	3	3	2	1	2	3	2	5	6	rs370398438		TCGA-J4-A67T-01A-11D-A30X-08	TCGA-J4-A67T-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb55b533-2220-4d8f-acd7-7ac806c1d861	cb7197cc-fc88-47ec-918b-d942f90df5cf	g.chr8:139278013C>T	ENST00000395297.1	-	4	400	c.230G>A	c.(229-231)cGg>cAg	p.R77Q		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	77										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			CTCTTCATTCCGGTATAAGAT	0.488										HNSCC(54;0.14)			C|||	1	0.000199681	0	0	5008	,	,		18715	0		0	False		,,,				2504	0.001					ENST00000395297.1																			0				NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238						c.(229-231)cGg>cAg		family with sequence similarity 135, member B		C	GLN/ARG	0,3894		0,0,1947	97	96	96		230	5.9	1	8		96	1,8309		0,1,4154	no	missense	FAM135B	NM_015912.3	43	0,1,6101	TT,TC,CC		0.012,0.0,0.0082	probably-damaging	77/1407	139278013	1,12203	1947	4155	6102	SO:0001583	missense	51059							g.chr8:139278013C>T	AB196635	CCDS6375.2	8q24.23	2008-11-05			ENSG00000147724	ENSG00000147724			28029	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_015912		Approved	C8ORFK32	uc003yuy.3	Q49AJ0	OTTHUMG00000149864	ENST00000395297.1:c.230G>A	8.37:g.139278013C>T	ENSP00000378710:p.Arg77Gln	HNSCC(54;0.14)					p.R77Q	NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0805)		4	400	-	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		77					B5MDB3|O95879|Q2WGJ7|Q3KP46	Missense_Mutation	SNP	ENST00000395297.1	37	c.230G>A	CCDS6375.2	.	.	.	.	.	.	.	.	.	.	C	36	5.659650	0.96734	0.0	1.2E-4	ENSG00000147724	ENST00000395297;ENST00000160713	T	0.16073	2.37	5.92	5.92	0.95590	.	0.000000	0.64402	U	0.000003	T	0.43344	0.1243	M	0.77820	2.39	0.42742	D	0.993747	D	0.89917	1.0	D	0.87578	0.998	T	0.11518	-1.0584	10	0.33141	T	0.24	-15.4773	15.8207	0.78638	0.0:1.0:0.0:0.0	.	77	Q49AJ0	F135B_HUMAN	Q	77	ENSP00000378710:R77Q	ENSP00000160713:R77Q	R	-	2	0	FAM135B	139347195	1.000000	0.71417	1.000000	0.80357	0.923000	0.55619	6.215000	0.72206	2.809000	0.96659	0.655000	0.94253	CGG		0.488	FAM135B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313590.3	NM_015912		4	51	0	0	0	1	0	4	51					T	139278013	C	T	139278013	3	4	272	1	0	0	0	0	1	0	0	0	5449	652	23	2	4058	2	FAM135B	8	139278013	Missense_Mutation	SNP	C	TCGA-J4-A67T-01A-11D-A30X-08		139278013	7086009	11	12655											
PPRC1	23082	broad.mit.edu	37	chr10	103906642	103906642	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gggctctggggaccatgactAttgtgtccggagcaggaccc	7	8	15	11	1	1	1	0	1	1	0	2	4	2	4	3	5	1	2	3	5	1	2			TCGA-J4-A67T-01A-11D-A30X-08	TCGA-J4-A67T-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb55b533-2220-4d8f-acd7-7ac806c1d861	cb7197cc-fc88-47ec-918b-d942f90df5cf	g.chr10:103906642A>G	ENST00000278070.2	+	9	3932	c.3893A>G	c.(3892-3894)tAt>tGt	p.Y1298C	PPRC1_ENST00000489648.1_Intron|PPRC1_ENST00000413464.2_Intron|PPRC1_ENST00000370012.1_Missense_Mutation_p.Y265C	NM_015062.3	NP_055877.3	Q5VV67	PPRC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator-related 1	1298					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(10)|lung(19)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Colorectal(252;0.122)		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)		GACCATGACTATTGTGTCCGG	0.577																																						ENST00000278070.2																			0				central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(10)|lung(19)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56						c.(3892-3894)tAt>tGt		peroxisome proliferator-activated receptor gamma, coactivator-related 1							85	77	80					10																	103906642		2203	4300	6503	SO:0001583	missense	23082				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleotide binding|RNA binding	g.chr10:103906642A>G	AF325193	CCDS7529.1, CCDS73186.1	10q24.32	2013-02-12	2006-10-17		ENSG00000148840	ENSG00000148840		"RNA binding motif (RRM) containing"	30025	protein-coding gene	gene with protein product			"peroxisome proliferative activated receptor, gamma, coactivator-related 1"			9628581, 11340167	Standard	XM_005269656		Approved	PRC, KIAA0595, MGC74642	uc001kum.3	Q5VV67	OTTHUMG00000018948	ENST00000278070.2:c.3893A>G	10.37:g.103906642A>G	ENSP00000278070:p.Tyr1298Cys					PPRC1_ENST00000413464.2_Intron|PPRC1_ENST00000489648.1_Intron|PPRC1_ENST00000370012.1_Missense_Mutation_p.Y265C	p.Y1298C	NM_015062.3	NP_055877.3	Q5VV67	PPRC1_HUMAN		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)	9	3932	+		Colorectal(252;0.122)	1298					Q5VV66|Q6P3U5|Q6P3W1|Q76N31|Q9BUJ3|Q9BZE5|Q9Y4E0	Missense_Mutation	SNP	ENST00000278070.2	37	c.3893A>G	CCDS7529.1	.	.	.	.	.	.	.	.	.	.	A	20.8	4.056938	0.76074	.	.	ENSG00000148840	ENST00000278070;ENST00000370012	T;T	0.70164	-0.11;-0.46	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	T	0.80465	0.4628	M	0.65498	2.005	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.82577	-0.0388	10	0.72032	D	0.01	.	15.5376	0.76016	1.0:0.0:0.0:0.0	.	1178;1298	Q5VV67-2;Q5VV67	.;PPRC1_HUMAN	C	1298;265	ENSP00000278070:Y1298C;ENSP00000359029:Y265C	ENSP00000278070:Y1298C	Y	+	2	0	PPRC1	103896632	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	8.797000	0.91882	2.072000	0.62099	0.379000	0.24179	TAT		0.577	PPRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050021.1	NM_015062		9	31	0	0	0	1	0	9	31					G	103906642	A	G	103906642	3	3	272	1	0	0	0	0	1	0	0	0	12410	449	16	4	3927	4	PPRC1	10	103906642	Missense_Mutation	SNP	A	TCGA-J4-A67T-01A-11D-A30X-08		103906642	31628105	12	12656											
C10orf91	170393	broad.mit.edu	37	chr10	134261457	134261457	+	Silent	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gacctggctgaggcagctccCgtggtagatcaagcctcaca	9	7	12	13	1	2	2	2	1	0	1	3	3	3	2	3	3	2	4	3	3	2	1	rs376778262		TCGA-J4-A67T-01A-11D-A30X-08	TCGA-J4-A67T-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb55b533-2220-4d8f-acd7-7ac806c1d861	cb7197cc-fc88-47ec-918b-d942f90df5cf	g.chr10:134261457C>G	ENST00000392630.3	+	3	391	c.330C>G	c.(328-330)ccC>ccG	p.P110P	C10orf91_ENST00000321248.2_Silent_p.P110P	NM_173541.2	NP_775812.1	Q5T1B1	CJ091_HUMAN	chromosome 10 open reading frame 91	110										endometrium(1)|kidney(1)|lung(1)|ovary(2)	5		all_cancers(35;6.69e-12)|all_epithelial(44;1.55e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Breast(234;0.106)|Colorectal(31;0.109)|Melanoma(40;0.123)|Glioma(114;0.203)|all_hematologic(284;0.224)		OV - Ovarian serous cystadenocarcinoma(35;6.95e-05)|Epithelial(32;0.000142)|all cancers(32;0.000162)		AGGCAGCTCCCGTGGTAGATC	0.677																																						ENST00000392630.3																			0				endometrium(1)|kidney(1)|lung(1)|ovary(2)	5						c.(328-330)ccC>ccG		chromosome 10 open reading frame 91							49	61	57					10																	134261457		2203	4298	6501	SO:0001819	synonymous_variant	170393							g.chr10:134261457C>G	BC030794	CCDS7668.1	10q26.3	2004-03-16			ENSG00000180066	ENSG00000180066			27275	protein-coding gene	gene with protein product						12477932	Standard	NM_173541		Approved	bA432J24.4	uc001llm.3	Q5T1B1	OTTHUMG00000019289	ENST00000392630.3:c.330C>G	10.37:g.134261457C>G						C10orf91_ENST00000321248.2_Silent_p.P110P	p.P110P	NM_173541.2	NP_775812.1	Q5T1B1	CJ091_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;6.95e-05)|Epithelial(32;0.000142)|all cancers(32;0.000162)	3	391	+		all_cancers(35;6.69e-12)|all_epithelial(44;1.55e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Breast(234;0.106)|Colorectal(31;0.109)|Melanoma(40;0.123)|Glioma(114;0.203)|all_hematologic(284;0.224)	110					Q8N0T7	Silent	SNP	ENST00000392630.3	37	c.330C>G	CCDS7668.1																																																																																				0.677	C10orf91-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051078.2	NM_173541		8	131	0	0	0	1	0	8	131					G	134261457	C	G	134261457	2	3	272	1	0	0	0	0	0	0	0	1	1624	639	23	5		5	C10orf91	10	134261457	Silent	SNP	C	TCGA-J4-A67T-01A-11D-A30X-08	30354815	134261457	1273290	13	12657											
GAB2	9846	broad.mit.edu	37	chr11	77991848	77991848	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaagttcaggttgatgatccGcagaggcttcttggagtgat	9	12	14	6	1	2	4	1	3	1	1	3	6	3	5	1	3	0	4	1	3	1	4			TCGA-J4-A67T-01A-11D-A30X-08	TCGA-J4-A67T-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb55b533-2220-4d8f-acd7-7ac806c1d861	cb7197cc-fc88-47ec-918b-d942f90df5cf	g.chr11:77991848G>A	ENST00000361507.4	-	2	260	c.175C>T	c.(175-177)Cgg>Tgg	p.R59W	GAB2_ENST00000526030.1_5'UTR|GAB2_ENST00000340149.2_Missense_Mutation_p.R21W	NM_080491.2	NP_536739.1	Q9UQC2	GAB2_HUMAN	GRB2-associated binding protein 2	59	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				cell migration (GO:0016477)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|osteoclast differentiation (GO:0030316)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell proliferation (GO:0008284)|positive regulation of mast cell degranulation (GO:0043306)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)		INTS4/GAB2(2)	NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(8)|ovary(5)|skin(1)|upper_aerodigestive_tract(1)	24	all_cancers(14;3.31e-18)|all_epithelial(13;5.3e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.58e-23)			TTGATGATCCGCAGAGGCTTC	0.502																																						ENST00000361507.4																		INTS4/GAB2(2)	0				NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(8)|ovary(5)|skin(1)|upper_aerodigestive_tract(1)	24						c.(175-177)Cgg>Tgg		GRB2-associated binding protein 2							127	119	122					11																	77991848		2200	4292	6492	SO:0001583	missense	9846				osteoclast differentiation|phosphatidylinositol-mediated signaling|positive regulation of cell proliferation|positive regulation of mast cell degranulation	cytosol|plasma membrane	phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|transmembrane receptor protein tyrosine kinase adaptor activity	g.chr11:77991848G>A	AB011143	CCDS8259.1, CCDS8260.1	11q13.4-q13.5	2013-01-10			ENSG00000033327	ENSG00000033327		"Pleckstrin homology (PH) domain containing"	14458	protein-coding gene	gene with protein product	"Grb2-associated binder 2"	606203				10391903, 10068651	Standard	NM_080491		Approved	KIAA0571	uc001ozh.3	Q9UQC2	OTTHUMG00000166673	ENST00000361507.4:c.175C>T	11.37:g.77991848G>A	ENSP00000354952:p.Arg59Trp					GAB2_ENST00000526030.1_5'UTR|GAB2_ENST00000340149.2_Missense_Mutation_p.R21W	p.R59W	NM_080491.2	NP_536739.1	Q9UQC2	GAB2_HUMAN	OV - Ovarian serous cystadenocarcinoma(8;1.58e-23)		2	260	-	all_cancers(14;3.31e-18)|all_epithelial(13;5.3e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		59			PH.		A2RRM2|A6NEW9|A7MD36|O60317	Missense_Mutation	SNP	ENST00000361507.4	37	c.175C>T	CCDS8259.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.217402	0.79352	.	.	ENSG00000033327	ENST00000340149;ENST00000361507;ENST00000528886;ENST00000530915	T;T;T;T	0.76448	-1.02;2.66;-1.02;-1.02	5.37	3.43	0.39272	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.64402	U	0.000003	D	0.88829	0.6543	M	0.86343	2.81	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.90074	0.4165	10	0.72032	D	0.01	-11.5112	14.4277	0.67227	0.0:0.0:0.7171:0.2829	.	59	Q9UQC2	GAB2_HUMAN	W	21;59;21;21	ENSP00000343959:R21W;ENSP00000354952:R59W;ENSP00000433762:R21W;ENSP00000431868:R21W	ENSP00000343959:R21W	R	-	1	2	GAB2	77669496	1.000000	0.71417	0.998000	0.56505	0.989000	0.77384	3.942000	0.56614	0.680000	0.31366	0.563000	0.77884	CGG		0.502	GAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391085.1	NM_080491		4	111	0	0	0	1	0	4	111					A	77991848	G	A	77991848	3	1	272	1	0	0	0	0	1	0	0	0	6149	1086	38	1	1891	1	GAB2	11	77991848	Missense_Mutation	SNP	G	TCGA-J4-A67T-01A-11D-A30X-08		77991848	57014668	14	12658											
MFRP	83552	broad.mit.edu	37	chr11	119216272	119216273	+	Frame_Shift_Ins	INS	-	-	G																															tgccacacgcagtgggtgttINSgggggggtaagggtctgggt																								rs200825785	byFrequency	TCGA-J4-A67T-01A-11D-A30X-08	TCGA-J4-A67T-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb55b533-2220-4d8f-acd7-7ac806c1d861	cb7197cc-fc88-47ec-918b-d942f90df5cf	g.chr11:119216272_119216273insG	ENST00000530681.1	-	5	642_643	c.498_499insC	c.(496-501)cccaacfs	p.N167fs	C1QTNF5_ENST00000445041.2_5'UTR|MFRP_ENST00000449574.2_Frame_Shift_Ins_p.N167fs|MFRP_ENST00000529147.1_5'UTR|MFRP_ENST00000360167.4_Frame_Shift_Ins_p.N167fs|MFRP_ENST00000555262.1_Frame_Shift_Ins_p.N167fs	NM_001278431.1	NP_001265360.1	Q9BY79	MFRP_HUMAN	membrane frizzled-related protein	167	CUB 1. {ECO:0000255|PROSITE- ProRule:PRU00059}.				embryo development (GO:0009790)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)|urinary_tract(1)	18		Medulloblastoma(222;0.0523)|Breast(348;0.174)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;3.84e-05)		CAGTGGGTGTTGGGGGGGTAAG	0.564																																						ENST00000555262.1																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)|urinary_tract(1)	18	GRCh37	CD052468|CI067239	MFRP	D|I		c.(496-501)ccacacfs		membrane frizzled-related protein																																				SO:0001589	frameshift_variant	83552							g.chr11:119216272_119216273insG	AB055505	CCDS8421.1	11q23.3	2014-01-28			ENSG00000235718	ENSG00000235718			18121	protein-coding gene	gene with protein product	"membrane-type frizzled-related protein", "complement C1q tumor necrosis factor-related protein 5 precursor variant 1"	606227				11263980	Standard	NM_031433		Approved	FLJ30570, rd6, NNO2, C1QTNF5	uc001pwj.2	Q9BY79		ENST00000530681.1:c.499dupC	11.37:g.119216279_119216279dupG	ENSP00000456533:p.Asn167fs					MFRP_ENST00000449574.2_Frame_Shift_Ins_p.H167fs|MFRP_ENST00000530681.1_Frame_Shift_Ins_p.H167fs|MFRP_ENST00000360167.4_Frame_Shift_Ins_p.H167fs|MFRP_ENST00000529147.1_5'UTR|C1QTNF5_ENST00000445041.2_5'UTR	p.H167fs	NM_001278431.1	NP_001265360.1				BRCA - Breast invasive adenocarcinoma(274;3.84e-05)	5	657_658	-		Medulloblastoma(222;0.0523)|Breast(348;0.174)|all_neural(223;0.224)						B0YJ36|B0YJ37|B4DHN8|Q335M3|Q96DQ9	Frame_Shift_Ins	INS	ENST00000530681.1	37	c.498_499insC	CCDS8421.1																																																																																				0.564	MFRP-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	nonsense_mediated_decay	protein_coding	OTTHUMT00000415179.1	NM_031433		7	45						7	45	---	---	---	---	G	119216273	-	G	119216272	7	5	272	1	0	1	1	0	0	0	0	0	9526	1812	63	0	1276	0	MFRP	11	119216272	Frame_Shift_Ins	INS	-	TCGA-J4-A67T-01A-11D-A30X-08	41224424	119216272	15790244	15	12659											
ADAMTS20	80070	broad.mit.edu	37	chr12	43944936	43944936	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agtgaagcgatagtgggttcGgaacggcatgggttccagcg	9	8	17	7	4	0	1	0	1	0	0	2	3	1	2	1	4	3	3	1	4	3	3			TCGA-J4-A67T-01A-11D-A30X-08	TCGA-J4-A67T-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb55b533-2220-4d8f-acd7-7ac806c1d861	cb7197cc-fc88-47ec-918b-d942f90df5cf	g.chr12:43944936G>A	ENST00000389420.3	-	2	228	c.229C>T	c.(229-231)Cga>Tga	p.R77*	ADAMTS20_ENST00000553158.1_Nonsense_Mutation_p.R77*	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	77					extracellular matrix organization (GO:0030198)|negative regulation of apoptotic process (GO:0043066)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of signal transduction (GO:0009967)	extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		TAGTGGGTTCGGAACGGCATG	0.617																																						ENST00000389420.3																			0				breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						c.(229-231)Cga>Tga		ADAM metallopeptidase with thrombospondin type 1 motif, 20							110	105	106					12																	43944936		2203	4300	6503	SO:0001587	stop_gained	80070					proteinaceous extracellular matrix	zinc ion binding	g.chr12:43944936G>A	AF488804	CCDS31778.2	12q12	2005-08-19	2005-08-19			ENSG00000173157		"ADAM metallopeptidases with thrombospondin type 1 motif"	17178	protein-coding gene	gene with protein product		611681	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 20"			12514189, 12562771	Standard	NM_025003		Approved	GON-1	uc010skx.2	P59510		ENST00000389420.3:c.229C>T	12.37:g.43944936G>A	ENSP00000374071:p.Arg77*					ADAMTS20_ENST00000553158.1_Nonsense_Mutation_p.R77*	p.R77*	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN		GBM - Glioblastoma multiforme(48;0.0473)	2	228	-	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)	77					A6NNC9|J3QT00	Nonsense_Mutation	SNP	ENST00000389420.3	37	c.229C>T	CCDS31778.2	.	.	.	.	.	.	.	.	.	.	G	25.4	4.633380	0.87660	.	.	ENSG00000173157	ENST00000389420;ENST00000553158;ENST00000389417	.	.	.	3.57	-2.09	0.07232	.	0.308963	0.18223	N	0.147801	.	.	.	.	.	.	0.58432	D	0.999996	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	16.3976	0.83621	0.0:0.0:0.7072:0.2927	.	.	.	.	X	77	.	ENSP00000374068:R77X	R	-	1	2	ADAMTS20	42231203	0.633000	0.27181	0.094000	0.20943	0.933000	0.57130	0.340000	0.19892	-0.381000	0.07882	-0.264000	0.10439	CGA		0.617	ADAMTS20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403643.1	NM_025003		24	72	0	0	0	1	0	24	72					A	43944936	G	A	43944936	4	1	272	1	0	0	0	0	0	1	0	0	266	1124	39	2	5654	2	ADAMTS20	12	43944936	Nonsense_Mutation	SNP	G	TCGA-J4-A67T-01A-11D-A30X-08		43944936	89906959	16	12660											
MTUS2	23281	broad.mit.edu	37	chr13	29599579	29599579	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtcatcctaaaccatctacCtcagaaagcaagcagagcac	15	6	6	14	1	3	2	2	0	1	2	4	2	4	2	3	0	5	3	3	0	5	2	rs376465256		TCGA-J4-A67T-01A-11D-A30X-08	TCGA-J4-A67T-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb55b533-2220-4d8f-acd7-7ac806c1d861	cb7197cc-fc88-47ec-918b-d942f90df5cf	g.chr13:29599579C>T	ENST00000431530.3	+	1	832	c.774C>T	c.(772-774)acC>acT	p.T258T		NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN	microtubule associated tumor suppressor candidate 2	248						cytoplasm (GO:0005737)|microtubule (GO:0005874)	microtubule binding (GO:0008017)|protein homodimerization activity (GO:0042803)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						AACCATCTACCTCAGAAAGCA	0.557																																						ENST00000431530.3																			0				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						c.(772-774)acC>acT		microtubule associated tumor suppressor candidate 2		C		0,4398		0,0,2199	43	44	44		774	5.5	1	13		44	1,8595	1.2+/-3.3	0,1,4297	no	coding-synonymous	MTUS2	NM_001033602.2		0,1,6496	TT,TC,CC		0.0116,0.0,0.0077		258/1380	29599579	1,12993	2199	4298	6497	SO:0001819	synonymous_variant	23281					cytoplasm|microtubule	microtubule binding|protein homodimerization activity	g.chr13:29599579C>T	AB018317	CCDS41874.1, CCDS45022.1	13q12.3	2013-01-17	2009-10-20	2009-10-20	ENSG00000132938	ENSG00000132938			20595	protein-coding gene	gene with protein product	"+TIP of 150 kDa", "cardiac zipper protein"		"KIAA0774"	KIAA0774		19543227	Standard	NM_001033602		Approved	TIP150, CAZIP, ICIS	uc001usl.4	Q5JR59	OTTHUMG00000016657	ENST00000431530.3:c.774C>T	13.37:g.29599579C>T							p.T258T	NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN			1	832	+			248					A7E292|B4DF81|O94872|Q08E97|Q5JQR3|Q8N5E2	Silent	SNP	ENST00000431530.3	37	c.774C>T	CCDS45022.1																																																																																				0.557	MTUS2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000044336.3	XM_166270		5	23	0	0	0	1	0	5	23					T	29599579	C	T	29599579	2	4	272	1	0	0	0	0	0	0	0	1	9966	668	24	3		3	MTUS2	13	29599579	Silent	SNP	C	TCGA-J4-A67T-01A-11D-A30X-08		29599579	85570299	17	12661											
ZC3H13	23091	broad.mit.edu	37	chr13	46543691	46543691	+	Frame_Shift_Del	DEL	T	T	-																															atgcttttctttttctgtccTttttttggtgaaaatacttg																										TCGA-J4-A67T-01A-11D-A30X-08	TCGA-J4-A67T-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb55b533-2220-4d8f-acd7-7ac806c1d861	cb7197cc-fc88-47ec-918b-d942f90df5cf	g.chr13:46543691delT	ENST00000242848.4	-	14	3336	c.2988delA	c.(2986-2988)aaafs	p.K996fs	ZC3H13_ENST00000282007.3_Frame_Shift_Del_p.K996fs|ZC3H13_ENST00000378921.2_5'UTR			Q5T200	ZC3HD_HUMAN	zinc finger CCCH-type containing 13	996	Lys-rich.						metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|lung(25)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	79		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;4.18e-05)		TTTTCTGTCCTTTTTTTGGTG	0.333																																					Esophageal Squamous(187;747 2077 11056 31291 44172)	ENST00000242848.4																			0				cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|lung(25)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	79						c.(2986-2988)aafs		zinc finger CCCH-type containing 13							133	133	133					13																	46543691		2203	4300	6503	SO:0001589	frameshift_variant	23091						nucleic acid binding|zinc ion binding	g.chr13:46543691delT	AB020660	CCDS9400.1	13q14.11	2012-07-05	2006-05-15	2006-05-15	ENSG00000123200	ENSG00000123200		"Zinc fingers, CCCH-type domain containing"	20368	protein-coding gene	gene with protein product			"KIAA0853"	KIAA0853		10048485	Standard	XM_005266301		Approved	DKFZp434D1812	uc001vas.1	Q5T200	OTTHUMG00000016863	ENST00000242848.4:c.2988delA	13.37:g.46543691delT	ENSP00000242848:p.Lys996fs					ZC3H13_ENST00000378921.2_5'UTR|ZC3H13_ENST00000282007.3_Frame_Shift_Del_p.K996fs	p.K996fs			Q5T200	ZC3HD_HUMAN	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;4.18e-05)	14	3336	-		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	996			Lys-rich.		A2A323|O94936|Q5T1Z9|Q7Z7J3|Q8NDT6|Q9H0L6	Frame_Shift_Del	DEL	ENST00000242848.4	37	c.2988delA																																																																																					0.333	ZC3H13-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000044789.1	NM_015070		16	60						16	60	---	---	---	---	-	46543691	T	-	46543691	7	5	272	1	0	1	0	1	0	0	0	0	17562	1606	56	0	1722	0	ZC3H13	13	46543691	Frame_Shift_Del	DEL	T	TCGA-J4-A67T-01A-11D-A30X-08	16944112	46543691	68626187	18	12662											
LTBP2	4053	broad.mit.edu	37	chr14	74991895	74991895	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cttcctgtatctctgcaatcCcctgttcaggcattggtggg	5	14	10	12	0	2	0	1	0	1	0	5	0	4	0	3	3	1	4	3	3	2	4			TCGA-J4-A67T-01A-11D-A30X-08	TCGA-J4-A67T-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb55b533-2220-4d8f-acd7-7ac806c1d861	cb7197cc-fc88-47ec-918b-d942f90df5cf	g.chr14:74991895C>T	ENST00000261978.4	-	15	2848	c.2462G>A	c.(2461-2463)gGg>gAg	p.G821E	LTBP2_ENST00000556690.1_Missense_Mutation_p.G821E	NM_000428.2	NP_000419.1	Q14767	LTBP2_HUMAN	latent transforming growth factor beta binding protein 2	821					protein secretion (GO:0009306)|protein targeting (GO:0006605)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)		CTCTGCAATCCCCTGTTCAGG	0.612																																						ENST00000261978.4																			0				breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						c.(2461-2463)gGg>gAg		latent transforming growth factor beta binding protein 2							264	213	230					14																	74991895		2203	4300	6503	SO:0001583	missense	4053				protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|growth factor binding	g.chr14:74991895C>T		CCDS9831.1	14q24.3	2011-10-20	2001-12-04			ENSG00000119681		"Latent transforming growth factor, beta binding proteins"	6715	protein-coding gene	gene with protein product		602091	"chromosome 14 open reading frame 141"	LTBP3, C14orf141		7798248	Standard	NM_000428		Approved		uc001xqa.3	Q14767		ENST00000261978.4:c.2462G>A	14.37:g.74991895C>T	ENSP00000261978:p.Gly821Glu					LTBP2_ENST00000556690.1_Missense_Mutation_p.G821E	p.G821E	NM_000428.2	NP_000419.1	Q14767	LTBP2_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)	15	2848	-			821					Q99907|Q9NS51	Missense_Mutation	SNP	ENST00000261978.4	37	c.2462G>A	CCDS9831.1	.	.	.	.	.	.	.	.	.	.	C	0.214	-1.033766	0.02029	.	.	ENSG00000119681	ENST00000261978;ENST00000556690	T;T	0.77620	-1.11;-1.11	4.9	-0.851	0.10716	.	0.541544	0.15301	N	0.269617	T	0.54481	0.1861	L	0.29908	0.895	0.09310	N	1	B	0.09022	0.002	B	0.08055	0.003	T	0.40136	-0.9579	10	0.05525	T	0.97	.	3.8913	0.09120	0.238:0.3037:0.0:0.4583	.	821	Q14767	LTBP2_HUMAN	E	821	ENSP00000261978:G821E;ENSP00000451477:G821E	ENSP00000261978:G821E	G	-	2	0	LTBP2	74061648	0.000000	0.05858	0.008000	0.14137	0.017000	0.09413	-0.749000	0.04813	-0.374000	0.07967	-0.136000	0.14681	GGG		0.612	LTBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413595.1	NM_000428		11	75	0	0	0	1	0	11	75					T	74991895	C	T	74991895	3	4	272	1	0	0	0	0	1	0	0	0	9074	623	22	3	3091	3	LTBP2	14	74991895	Missense_Mutation	SNP	C	TCGA-J4-A67T-01A-11D-A30X-08		74991895	32357645	19	12663											
TUBB3	10381	broad.mit.edu	37	chr16	90001622	90001622	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgacctgcgcaagctggccGtcaacatggtgcccttcccg	6	8	11	16	3	1	1	1	1	0	0	2	1	2	1	4	2	4	2	4	2	2	1			TCGA-J4-A67T-01A-11D-A30X-08	TCGA-J4-A67T-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb55b533-2220-4d8f-acd7-7ac806c1d861	cb7197cc-fc88-47ec-918b-d942f90df5cf	g.chr16:90001622G>A	ENST00000315491.7	+	4	886	c.763G>A	c.(763-765)Gtc>Atc	p.V255I	TUBB3_ENST00000554444.1_Missense_Mutation_p.V183I|TUBB3_ENST00000304984.5_Missense_Mutation_p.V183I|TUBB3_ENST00000556922.1_Missense_Mutation_p.V602I|TUBB3_ENST00000555576.1_Intron	NM_006086.3	NP_006077.2	Q13509	TBB3_HUMAN	tubulin, beta 3 class III	255					'de novo' posttranslational protein folding (GO:0051084)|axon guidance (GO:0007411)|cellular protein metabolic process (GO:0044267)|microtubule-based process (GO:0007017)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(3)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	17		all_cancers(9;1.69e-11)|Lung NSC(15;8.94e-06)|all_lung(18;1.39e-05)|all_neural(9;0.00581)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0273)	Ixabepilone(DB04845)	CAAGCTGGCCGTCAACATGGT	0.682																																						ENST00000304984.5																			0				cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(3)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	17						c.(547-549)Gtc>Atc		tubulin, beta 3 class III							43	43	43					16																	90001622		2198	4299	6497	SO:0001583	missense	10381				'de novo' posttranslational protein folding|axon guidance|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity	g.chr16:90001622G>A	BC000748	CCDS10988.1, CCDS56012.1	16q24.3	2014-02-04	2011-10-10		ENSG00000198211	ENSG00000198211		"Tubulins"	20772	protein-coding gene	gene with protein product	"class III beta-tubulin"	602661	"tubulin, beta 3", "fibrosis of extraocular muscles, congenital, 3"	FEOM3		9473684, 8098743, 20074521	Standard	NM_006086		Approved	beta-4, CFEOM3, CFEOM3A	uc002fph.2	Q13509	OTTHUMG00000138985	ENST00000315491.7:c.763G>A	16.37:g.90001622G>A	ENSP00000320295:p.Val255Ile					TUBB3_ENST00000555576.1_Intron|TUBB3_ENST00000556922.1_Missense_Mutation_p.V602I|TUBB3_ENST00000315491.7_Missense_Mutation_p.V255I|TUBB3_ENST00000554444.1_Missense_Mutation_p.V183I	p.V183I			Q13509	TBB3_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0273)	3	2842	+		all_cancers(9;1.69e-11)|Lung NSC(15;8.94e-06)|all_lung(18;1.39e-05)|all_neural(9;0.00581)|all_hematologic(23;0.0194)	255					A8K854|Q9BTZ0|Q9BW10	Missense_Mutation	SNP	ENST00000315491.7	37	c.547G>A	CCDS10988.1	.	.	.	.	.	.	.	.	.	.	G	15.17	2.754462	0.49362	.	.	ENSG00000258947;ENSG00000258947;ENSG00000258947;ENSG00000198211;ENSG00000198211;ENSG00000198211	ENST00000556922;ENST00000555399;ENST00000304984;ENST00000555810;ENST00000554444;ENST00000315491	D;D;T;D;D	0.84516	-1.86;-1.86;-0.92;-1.86;-1.86	4.67	4.67	0.58626	Tubulin/FtsZ, 2-layer sandwich domain (1);Tubulin/FtsZ, GTPase domain (1);Tubulin/FtsZ, C-terminal (1);	0.000000	0.51477	D	0.000090	D	0.90109	0.6910	M	0.88704	2.975	0.51767	D	0.999937	D;P	0.54772	0.968;0.884	P;P	0.48654	0.585;0.499	D	0.92048	0.5646	9	.	.	.	.	17.5189	0.87782	0.0:0.0:1.0:0.0	.	255;255	Q13509;B2RBD5	TBB3_HUMAN;.	I	602;255;183;183;183;255	ENSP00000451560:V602I;ENSP00000302777:V183I;ENSP00000450538:V183I;ENSP00000451617:V183I;ENSP00000320295:V255I	.	V	+	1	0	RP11-566K11.2;TUBB3	88529123	1.000000	0.71417	0.897000	0.35233	0.397000	0.30659	9.541000	0.98083	2.316000	0.78162	0.407000	0.27541	GTC		0.682	TUBB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000272874.1	NM_006086		4	69	0	0	0	1	0	4	69					A	90001622	G	A	90001622	3	1	272	1	0	0	0	0	1	0	0	0	16754	1145	40	1	777	1	TUBB3	16	90001622	Missense_Mutation	SNP	G	TCGA-J4-A67T-01A-11D-A30X-08		90001622	353131	20	12664											
KCNC3	3748	broad.mit.edu	37	chr19	50823518	50823518	+	Frame_Shift_Del	DEL	G	G	-																															gtccactagggggatatccaGgccgcggcgttggcgttgag																										TCGA-J4-A67T-01A-11D-A30X-08	TCGA-J4-A67T-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb55b533-2220-4d8f-acd7-7ac806c1d861	cb7197cc-fc88-47ec-918b-d942f90df5cf	g.chr19:50823518delG	ENST00000477616.1	-	4	2553	c.2259delC	c.(2257-2259)gccfs	p.A753fs	KCNC3_ENST00000376959.2_Intron|KCNC3_ENST00000474951.1_Intron|KCNC3_ENST00000391818.2_Intron	NM_004977.2	NP_004968.2	Q14003	KCNC3_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 3	753					cell death (GO:0008219)|potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of neurotransmitter secretion (GO:0046928)|synaptic transmission (GO:0007268)	axolemma (GO:0030673)|axon terminus (GO:0043679)|dendrite membrane (GO:0032590)|neuromuscular junction (GO:0031594)|neuronal cell body membrane (GO:0032809)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|voltage-gated potassium channel activity (GO:0005249)			endometrium(2)|large_intestine(4)|lung(5)|pancreas(1)|skin(1)	13		all_neural(266;0.057)|Ovarian(192;0.208)		OV - Ovarian serous cystadenocarcinoma(262;0.00283)|GBM - Glioblastoma multiforme(134;0.0181)	Dalfampridine(DB06637)	GGGATATCCAGGCCGCGGCGT	0.692																																					Melanoma(91;1496 2324 50908)	ENST00000477616.1																			0				endometrium(2)|large_intestine(4)|lung(5)|pancreas(1)|skin(1)	13						c.(2257-2259)gcfs		potassium voltage-gated channel, Shaw-related subfamily, member 3							2	3	3					19																	50823518		1689	3482	5171	SO:0001589	frameshift_variant	3748				cell death	voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr19:50823518delG	AB208930	CCDS12793.1	19q13.33	2014-09-17			ENSG00000131398	ENSG00000131398		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6235	protein-coding gene	gene with protein product		176264	"spinocerebellar ataxia 13"	SCA13		1740329, 8111118, 16382104	Standard	NM_004977		Approved	Kv3.3	uc002pru.1	Q14003	OTTHUMG00000044580	ENST00000477616.1:c.2259delC	19.37:g.50823518delG	ENSP00000434241:p.Ala753fs					KCNC3_ENST00000391818.2_Intron|KCNC3_ENST00000474951.1_Intron|KCNC3_ENST00000376959.2_Intron	p.A753fs	NM_004977.2	NP_004968.2	Q14003	KCNC3_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00283)|GBM - Glioblastoma multiforme(134;0.0181)	4	2553	-		all_neural(266;0.057)|Ovarian(192;0.208)	753						Frame_Shift_Del	DEL	ENST00000477616.1	37	c.2259delC	CCDS12793.1																																																																																				0.692	KCNC3-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314288.2	NM_004977		2	4						2	4	---	---	---	---	-	50823518	G	-	50823518	7	5	272	1	0	1	0	1	0	0	0	0	8016	987	35	0	18	0	KCNC3	19	50823518	Frame_Shift_Del	DEL	G	TCGA-J4-A67T-01A-11D-A30X-08		50823518	8305465	21	12665											
USP48	84196	broad.mit.edu	37	chr1	22074643	22074643	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	acatttacctgtcaaagacaAaacgcattagctgcaagttc	15	10	6	10	1	1	1	1	0	0	1	2	1	1	1	1	0	4	4	1	0	6	4			TCGA-J4-A6G1-01A-11D-A30X-08	TCGA-J4-A6G1-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2f45990-6e87-46f9-893c-8db4e8eec983	42a1f7a6-b577-4000-9a4f-c6cd38462317	g.chr1:22074643A>C	ENST00000308271.9	-	7	1544	c.896T>G	c.(895-897)tTt>tGt	p.F299C	USP48_ENST00000400301.1_Missense_Mutation_p.F299C|USP48_ENST00000529637.1_Missense_Mutation_p.F299C|USP48_ENST00000421625.2_Missense_Mutation_p.F299C	NM_032236.5	NP_115612.4	Q86UV5	UBP48_HUMAN	ubiquitin specific peptidase 48	299	USP.				ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ubiquitin-specific protease activity (GO:0004843)			NS(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(14)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42		Colorectal(325;3.46e-05)|all_lung(284;4.29e-05)|Lung NSC(340;4.66e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|OV - Ovarian serous cystadenocarcinoma(117;4.74e-26)|COAD - Colon adenocarcinoma(152;1.3e-05)|GBM - Glioblastoma multiforme(114;1.86e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000614)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(1967;0.00711)|Lung(427;0.0327)|READ - Rectum adenocarcinoma(331;0.0657)|LUSC - Lung squamous cell carcinoma(448;0.0753)		GTCAAAGACAAAACGCATTAG	0.368																																						ENST00000308271.9																			0				NS(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(14)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						c.(895-897)tTt>tGt		ubiquitin specific peptidase 48							167	141	150					1																	22074643		2203	4300	6503	SO:0001583	missense	84196				ubiquitin-dependent protein catabolic process	mitochondrion|nucleus	cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr1:22074643A>C	AF502942	CCDS30623.1, CCDS44084.1	1p36.12	2008-02-05	2005-08-08	2004-04-07	ENSG00000090686	ENSG00000090686		"Ubiquitin-specific peptidases"	18533	protein-coding gene	gene with protein product			"ubiquitin specific protease 31", "ubiquitin specific protease 48"	USP31		12838346	Standard	XM_005246009		Approved	FLJ23277, FLJ11328, FLJ20103, FLJ23054, MGC14879	uc001bfb.3	Q86UV5	OTTHUMG00000007798	ENST00000308271.9:c.896T>G	1.37:g.22074643A>C	ENSP00000309262:p.Phe299Cys					USP48_ENST00000421625.2_Missense_Mutation_p.F299C|USP48_ENST00000400301.1_Missense_Mutation_p.F299C|USP48_ENST00000529637.1_Missense_Mutation_p.F299C	p.F299C	NM_032236.5	NP_115612.4	Q86UV5	UBP48_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|OV - Ovarian serous cystadenocarcinoma(117;4.74e-26)|COAD - Colon adenocarcinoma(152;1.3e-05)|GBM - Glioblastoma multiforme(114;1.86e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000614)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(1967;0.00711)|Lung(427;0.0327)|READ - Rectum adenocarcinoma(331;0.0657)|LUSC - Lung squamous cell carcinoma(448;0.0753)	7	1544	-		Colorectal(325;3.46e-05)|all_lung(284;4.29e-05)|Lung NSC(340;4.66e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)	299					B7ZKS7|Q2M3I4|Q5SZI4|Q5T3T5|Q6NX53|Q8N3F6|Q96F64|Q96IQ3|Q9H5N3|Q9H5T7|Q9NUJ6|Q9NXR0	Missense_Mutation	SNP	ENST00000308271.9	37	c.896T>G	CCDS30623.1	.	.	.	.	.	.	.	.	.	.	A	21.7	4.180808	0.78677	.	.	ENSG00000090686	ENST00000400301;ENST00000308271;ENST00000529637;ENST00000421625	T;T;T;T	0.47177	0.85;0.85;0.85;0.85	5.55	5.55	0.83447	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.000000	0.85682	D	0.000000	T	0.76983	0.4064	H	0.94734	3.575	0.80722	D	1	D;P;D;D;D;D	0.89917	0.999;0.925;0.999;1.0;1.0;1.0	D;P;D;D;D;D	0.79108	0.973;0.77;0.956;0.991;0.982;0.992	D	0.84048	0.0368	10	0.87932	D	0	.	14.8759	0.70493	1.0:0.0:0.0:0.0	.	299;299;299;299;299;299	B7ZKS7;B7ZKS3;Q86UV5-7;Q86UV5-3;Q86UV5-2;Q86UV5	.;.;.;.;.;UBP48_HUMAN	C	299	ENSP00000383157:F299C;ENSP00000309262:F299C;ENSP00000431949:F299C;ENSP00000406256:F299C	ENSP00000309262:F299C	F	-	2	0	USP48	21947230	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.248000	0.95456	2.101000	0.63845	0.460000	0.39030	TTT		0.368	USP48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021372.1	NM_032236		3	47	0	0	0	1	0	3	47					C	22074643	A	C	22074643	3	2	273	1	0	0	0	0	1	0	0	0	17076	14	1	5	2303	5	USP48	1	22074643	Missense_Mutation	SNP	A	TCGA-J4-A6G1-01A-11D-A30X-08		22074643	227175978	1	12666											
MATN1	4146	broad.mit.edu	37	chr1	31189120	31189120	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcctcacactcttggatccGtcaatgaggaagaccaggtc	10	8	11	12	1	3	2	2	1	1	1	5	4	4	4	3	4	0	0	3	4	2	1	rs367627173		TCGA-J4-A6G1-01A-11D-A30X-08	TCGA-J4-A6G1-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2f45990-6e87-46f9-893c-8db4e8eec983	42a1f7a6-b577-4000-9a4f-c6cd38462317	g.chr1:31189120G>A	ENST00000373765.4	-	5	878	c.843C>T	c.(841-843)gaC>gaT	p.D281D	MATN1-AS1_ENST00000454613.1_RNA|MATN1_ENST00000477320.1_5'UTR|MATN1-AS1_ENST00000414763.1_RNA|MATN1-AS1_ENST00000414532.2_RNA	NM_002379.3	NP_002370.1	P21941	MATN1_HUMAN	matrilin 1, cartilage matrix protein	281	VWFA 2. {ECO:0000255|PROSITE- ProRule:PRU00219}.				extracellular matrix organization (GO:0030198)|growth plate cartilage chondrocyte morphogenesis (GO:0003429)|protein complex assembly (GO:0006461)|regulation of bone mineralization (GO:0030500)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	12		Colorectal(325;0.00792)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)|Ovarian(437;0.0563)|Breast(348;0.0848)|Medulloblastoma(700;0.123)		Colorectal(126;1.29e-05)|COAD - Colon adenocarcinoma(152;0.000726)|STAD - Stomach adenocarcinoma(196;0.0183)|READ - Rectum adenocarcinoma(331;0.0649)		TCTTGGATCCGTCAATGAGGA	0.557																																						ENST00000373765.4																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	12						c.(841-843)gaC>gaT		matrilin 1, cartilage matrix protein		G		0,4406		0,0,2203	77	67	70		843	0.3	1	1		70	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	MATN1	NM_002379.3		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		281/497	31189120	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	4146				protein complex assembly	proteinaceous extracellular matrix	extracellular matrix structural constituent|protein binding	g.chr1:31189120G>A	M55675	CCDS336.1	1p35	2008-02-05			ENSG00000162510	ENSG00000162510			6907	protein-coding gene	gene with protein product		115437		CRTM, CMP		2246248, 9083061	Standard	NM_002379		Approved		uc001brz.3	P21941	OTTHUMG00000003705	ENST00000373765.4:c.843C>T	1.37:g.31189120G>A						MATN1_ENST00000477320.1_5'UTR	p.D281D	NM_002379.3	NP_002370.1	P21941	MATN1_HUMAN		Colorectal(126;1.29e-05)|COAD - Colon adenocarcinoma(152;0.000726)|STAD - Stomach adenocarcinoma(196;0.0183)|READ - Rectum adenocarcinoma(331;0.0649)	5	878	-		Colorectal(325;0.00792)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)|Ovarian(437;0.0563)|Breast(348;0.0848)|Medulloblastoma(700;0.123)	281			VWFA 2.		B2R7E3|Q5TBB9	Silent	SNP	ENST00000373765.4	37	c.843C>T	CCDS336.1																																																																																				0.557	MATN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010458.1	NM_002379		4	45	0	0	0	1	0	4	45					A	31189120	G	A	31189120	2	1	273	1	0	0	0	0	0	0	0	1	9333	1136	40	1		1	MATN1	1	31189120	Silent	SNP	G	TCGA-J4-A6G1-01A-11D-A30X-08	9114477	31189120	218061501	2	12667											
RSPO1	284654	broad.mit.edu	37	chr1	38082185	38082185	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgttcatgtcggggttgcggGcgtcgaagtatccaggtggg	5	11	18	7	4	1	0	1	0	0	0	4	1	2	0	1	5	1	3	1	5	2	3			TCGA-J4-A6G1-01A-11D-A30X-08	TCGA-J4-A6G1-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2f45990-6e87-46f9-893c-8db4e8eec983	42a1f7a6-b577-4000-9a4f-c6cd38462317	g.chr1:38082185G>A	ENST00000401069.1	-	4	969	c.257C>T	c.(256-258)gCc>gTc	p.A86V	RSPO1_ENST00000356545.2_Missense_Mutation_p.A86V|RSPO1_ENST00000401071.2_Missense_Mutation_p.A86V|RSPO1_ENST00000373059.1_Missense_Mutation_p.A59V|RSPO1_ENST00000401068.1_Missense_Mutation_p.A86V|RSPO1_ENST00000401070.1_Missense_Mutation_p.A86V	NM_001242908.1	NP_001229837.1	Q2MKA7	RSPO1_HUMAN	R-spondin 1	86					canonical Wnt signaling pathway (GO:0060070)|male meiosis (GO:0007140)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of non-canonical Wnt signaling pathway (GO:2000052)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of gene expression (GO:0010468)|regulation of male germ cell proliferation (GO:2000254)|regulation of receptor internalization (GO:0002090)	extracellular space (GO:0005615)|nucleus (GO:0005634)	G-protein coupled receptor binding (GO:0001664)|heparin binding (GO:0008201)|receptor binding (GO:0005102)			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)	12		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				GGGGTTGCGGGCGTCGAAGTA	0.612																																					GBM(122;680 2230 27822 42821)	ENST00000356545.2																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)	12						c.(256-258)gCc>gTc		R-spondin 1							51	54	53					1																	38082185		2007	4167	6174	SO:0001583	missense	284654				positive regulation of canonical Wnt receptor signaling pathway|regulation of receptor internalization		heparin binding	g.chr1:38082185G>A	AK098225	CCDS41304.1, CCDS55590.1, CCDS55591.1	1p34.2	2014-01-30	2011-06-29		ENSG00000169218	ENSG00000169218		"Endogenous ligands"	21679	protein-coding gene	gene with protein product		609595	"R-spondin homolog (Xenopus laevis)"				Standard	NM_001038633		Approved	FLJ40906, RSPONDIN	uc001cbm.2	Q2MKA7	OTTHUMG00000004321	ENST00000401069.1:c.257C>T	1.37:g.38082185G>A	ENSP00000383847:p.Ala86Val					RSPO1_ENST00000401070.1_Missense_Mutation_p.A86V|RSPO1_ENST00000401071.2_Missense_Mutation_p.A86V|RSPO1_ENST00000373059.1_Missense_Mutation_p.A59V|RSPO1_ENST00000401068.1_Missense_Mutation_p.A86V|RSPO1_ENST00000401069.1_Missense_Mutation_p.A86V	p.A86V	NM_001038633.3	NP_001033722.1	Q2MKA7	RSPO1_HUMAN			5	1044	-		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)	86					A2A420|Q0H8S6|Q14C72|Q5T0F2|Q8N7L5	Missense_Mutation	SNP	ENST00000401069.1	37	c.257C>T	CCDS41304.1	.	.	.	.	.	.	.	.	.	.	G	16.17	3.048349	0.55110	.	.	ENSG00000169218	ENST00000373059;ENST00000401070;ENST00000356545;ENST00000401071;ENST00000401069;ENST00000401068	T;T;T;T;T;T	0.76448	-1.02;-1.02;-1.02;-1.02;-1.02;-1.02	5.79	5.79	0.91817	Growth factor, receptor (1);	0.231111	0.46442	D	0.000296	T	0.53481	0.1799	N	0.17474	0.49	0.34788	D	0.735442	B;B;B	0.29988	0.264;0.019;0.011	B;B;B	0.24701	0.055;0.011;0.005	T	0.58081	-0.7699	10	0.02654	T	1	.	6.0986	0.20035	0.1108:0.0:0.7055:0.1838	.	86;59;86	Q0H8S6;Q2MKA7-2;Q2MKA7	.;.;RSPO1_HUMAN	V	59;86;86;86;86;86	ENSP00000362150:A59V;ENSP00000383848:A86V;ENSP00000348944:A86V;ENSP00000383849:A86V;ENSP00000383847:A86V;ENSP00000383846:A86V	ENSP00000348944:A86V	A	-	2	0	RSPO1	37854772	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.009000	0.63998	2.753000	0.94483	0.555000	0.69702	GCC		0.612	RSPO1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012477.2	NM_173640		5	68	0	0	0	1	0	5	68					A	38082185	G	A	38082185	3	1	273	1	0	0	0	0	1	0	0	0	13709	1203	42	3	550	3	RSPO1	1	38082185	Missense_Mutation	SNP	G	TCGA-J4-A6G1-01A-11D-A30X-08	6893065	38082185	211168436	3	12668											
C1orf173	127254	broad.mit.edu	37	chr1	75038567	75038567	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcttcctcttcactttctcCgacatcactcacagccaccc	7	12	3	19	1	5	0	3	0	2	0	7	1	6	0	4	0	2	1	4	0	0	3			TCGA-J4-A6G1-01A-11D-A30X-08	TCGA-J4-A6G1-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2f45990-6e87-46f9-893c-8db4e8eec983	42a1f7a6-b577-4000-9a4f-c6cd38462317	g.chr1:75038567C>T	ENST00000326665.5	-	14	3045	c.2827G>A	c.(2827-2829)Gga>Aga	p.G943R	C1orf173_ENST00000433746.2_5'UTR	NM_001002912.4	NP_001002912.4	Q5RHP9	ERIC3_HUMAN		943	Glu-rich.									NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						TCACTTTCTCCGACATCACTC	0.547																																						ENST00000326665.5																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						c.(2827-2829)Gga>Aga		chromosome 1 open reading frame 173							145	142	143					1																	75038567		2203	4300	6503	SO:0001583	missense	127254							g.chr1:75038567C>T																												ENST00000326665.5:c.2827G>A	1.37:g.75038567C>T	ENSP00000322609:p.Gly943Arg					C1orf173_ENST00000433746.2_5'UTR	p.G943R	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN			14	3045	-			943			Glu-rich.		Q68DL8|Q6GMR8|Q6ZSF9|Q8ND41	Missense_Mutation	SNP	ENST00000326665.5	37	c.2827G>A	CCDS30755.1	.	.	.	.	.	.	.	.	.	.	C	8.432	0.848927	0.17034	.	.	ENSG00000178965	ENST00000326665	T	0.12879	2.64	4.97	-1.53	0.08611	.	.	.	.	.	T	0.01627	0.0052	N	0.12182	0.205	0.09310	N	1	B	0.15473	0.013	B	0.09377	0.004	T	0.47995	-0.9073	9	0.16896	T	0.51	-0.0454	7.2693	0.26248	0.0:0.5435:0.1084:0.348	.	943	Q5RHP9	CA173_HUMAN	R	943	ENSP00000322609:G943R	ENSP00000322609:G943R	G	-	1	0	C1orf173	74811155	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.685000	0.05167	-0.671000	0.05274	-2.780000	0.00118	GGA		0.547	C1orf173-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026516.1			10	130	0	0	0	1	0	10	130					T	75038567	C	T	75038567	3	4	273	1	0	0	0	0	1	0	0	0	2014	661	23	2	1769	2	C1orf173	1	75038567	Missense_Mutation	SNP	C	TCGA-J4-A6G1-01A-11D-A30X-08	36956382	75038567	174212054	4	12669											
FLG	2312	broad.mit.edu	37	chr1	152276820	152276820	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gactgtgagtgtctagagctGtccgcctgagtggaagcttc	7	11	14	9	1	1	3	0	2	1	1	3	5	2	4	2	1	2	2	2	1	2	2			TCGA-J4-A6G1-01A-11D-A30X-08	TCGA-J4-A6G1-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2f45990-6e87-46f9-893c-8db4e8eec983	42a1f7a6-b577-4000-9a4f-c6cd38462317	g.chr1:152276820G>C	ENST00000368799.1	-	3	10577	c.10542C>G	c.(10540-10542)gaC>gaG	p.D3514E	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3514	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GTCTAGAGCTGTCCGCCTGAG	0.567									Ichthyosis																													ENST00000368799.1																			0				autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424						c.(10540-10542)gaC>gaG		filaggrin							226	221	222					1																	152276820		2203	4298	6501	SO:0001583	missense	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152276820G>C	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"EF-hand domain containing"	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.10542C>G	1.37:g.152276820G>C	ENSP00000357789:p.Asp3514Glu					FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	p.D3514E	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	10577	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		3514			Ser-rich.		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	c.10542C>G	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	G	9.067	0.996024	0.19043	.	.	ENSG00000143631	ENST00000368799	T	0.08634	3.07	2.77	-0.976	0.10286	.	.	.	.	.	T	0.04272	0.0118	L	0.52126	1.63	0.09310	N	1	D	0.76494	0.999	D	0.66497	0.944	T	0.12319	-1.0552	9	0.02654	T	1	.	5.0193	0.14352	0.0:0.1689:0.3167:0.5144	.	3514	P20930	FILA_HUMAN	E	3514	ENSP00000357789:D3514E	ENSP00000357789:D3514E	D	-	3	2	FLG	150543444	0.052000	0.20516	0.000000	0.03702	0.046000	0.14306	0.711000	0.25764	-0.371000	0.08004	-0.551000	0.04211	GAC		0.567	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		15	281	0	0	0	1	0	15	281					C	152276820	G	C	152276820	3	2	273	1	0	0	0	0	1	0	0	0	5922	1368	48	5	1647	5	FLG	1	152276820	Missense_Mutation	SNP	G	TCGA-J4-A6G1-01A-11D-A30X-08	77238253	152276820	96973801	5	12670											
SYT11	23208	broad.mit.edu	37	chr1	155851027	155851027	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acgtctactacggcagaaagCgcattgccaagaagaaaacc	16	5	9	11	3	1	3	0	0	1	3	1	3	1	3	2	1	5	2	2	1	7	3			TCGA-J4-A6G1-01A-11D-A30X-08	TCGA-J4-A6G1-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2f45990-6e87-46f9-893c-8db4e8eec983	42a1f7a6-b577-4000-9a4f-c6cd38462317	g.chr1:155851027C>T	ENST00000368324.4	+	4	1277	c.1024C>T	c.(1024-1026)Cgc>Tgc	p.R342C	SYT11_ENST00000539162.1_Missense_Mutation_p.R35C	NM_152280.4	NP_689493.3	Q9BT88	SYT11_HUMAN	synaptotagmin XI	342	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				negative regulation of neurotransmitter secretion (GO:0046929)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|synaptic vesicle (GO:0008021)	metal ion binding (GO:0046872)|transporter activity (GO:0005215)			breast(2)|central_nervous_system(1)|endometrium(1)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;0.000162)			CGGCAGAAAGCGCATTGCCAA	0.468																																						ENST00000368324.4																			0				breast(2)|central_nervous_system(1)|endometrium(1)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						c.(1024-1026)Cgc>Tgc		synaptotagmin XI							234	247	243					1																	155851027		2203	4300	6503	SO:0001583	missense	23208					cell junction|synaptic vesicle membrane	protein binding|transporter activity	g.chr1:155851027C>T	D38522	CCDS1122.1	1q22	2013-01-21			ENSG00000132718	ENSG00000132718		"Synaptotagmins"	19239	protein-coding gene	gene with protein product		608741				11543631	Standard	NM_152280		Approved	KIAA0080, MGC10881, MGC17226, DKFZp781D015	uc001fmg.3	Q9BT88	OTTHUMG00000014105	ENST00000368324.4:c.1024C>T	1.37:g.155851027C>T	ENSP00000357307:p.Arg342Cys					SYT11_ENST00000539162.1_Missense_Mutation_p.R35C	p.R342C	NM_152280.4	NP_689493.3	Q9BT88	SYT11_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;0.000162)		4	1277	+	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		342			C2 2.		Q14998|Q5W0D4|Q68CT5|Q8IXU3|Q96SU2	Missense_Mutation	SNP	ENST00000368324.4	37	c.1024C>T	CCDS1122.1	.	.	.	.	.	.	.	.	.	.	C	24.2	4.508183	0.85282	.	.	ENSG00000132718	ENST00000368324;ENST00000539162	T;T	0.72725	-0.68;-0.68	5.17	5.17	0.71159	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	D	0.84092	0.5396	M	0.90542	3.125	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.86669	0.1909	10	0.87932	D	0	.	13.4247	0.61018	0.157:0.843:0.0:0.0	.	342	Q9BT88	SYT11_HUMAN	C	342;35	ENSP00000357307:R342C;ENSP00000441657:R35C	ENSP00000357307:R342C	R	+	1	0	SYT11	154117651	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.809000	0.55606	2.691000	0.91804	0.655000	0.94253	CGC		0.468	SYT11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039597.1	NM_152280		26	233	0	0	0	1	0	26	233					T	155851027	C	T	155851027	3	4	273	1	0	0	0	0	1	0	0	0	15464	768	27	1	1038	1	SYT11	1	155851027	Missense_Mutation	SNP	C	TCGA-J4-A6G1-01A-11D-A30X-08	3574207	155851027	93399594	6	12671											
FCGR2A	2212	broad.mit.edu	37	chr1	161480636	161480636	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ttccctagtgcccagcatggGcagctcttcaccaatgggga	8	9	11	13	0	2	0	1	0	1	0	3	1	3	1	3	3	3	3	3	3	2	3			TCGA-J4-A6G1-01A-11D-A30X-08	TCGA-J4-A6G1-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2f45990-6e87-46f9-893c-8db4e8eec983	42a1f7a6-b577-4000-9a4f-c6cd38462317	g.chr1:161480636G>T	ENST00000271450.6	+	5	670	c.632G>T	c.(631-633)gGc>gTc	p.G211V	RP11-25K21.6_ENST00000537821.2_RNA|FCGR2A_ENST00000367972.4_Missense_Mutation_p.G210V	NM_001136219.1|NM_021642.3	NP_001129691.1|NP_067674.2	P12318	FCG2A_HUMAN	Fc fragment of IgG, low affinity IIa, receptor (CD32)	211					Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(2)|endometrium(2)|large_intestine(2)|lung(11)|ovary(1)	19	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Intravenous Immunoglobulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	CCCAGCATGGGCAGCTCTTCA	0.512																																						ENST00000271450.6																			0				autonomic_ganglia(1)|breast(2)|endometrium(2)|large_intestine(2)|lung(11)|ovary(1)	19						c.(631-633)gGc>gTc		Fc fragment of IgG, low affinity IIa, receptor (CD32)	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)						213	210	211					1																	161480636		2203	4300	6503	SO:0001583	missense	2212					integral to membrane|plasma membrane	IgG binding|receptor activity	g.chr1:161480636G>T	J03619	CCDS30922.1, CCDS44264.1	1q23	2013-01-11	2005-02-02		ENSG00000143226	ENSG00000143226		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	3616	protein-coding gene	gene with protein product	"Immunoglobulin G Fc receptor II"	146790	"Fc fragment of IgG, low affinity IIa, receptor for (CD32)"	FCG2, FCGR2A1, FCGR2		2139735	Standard	NM_021642		Approved	CD32, CD32A, IGFR2, CDw32	uc001gan.3	P12318	OTTHUMG00000034469	ENST00000271450.6:c.632G>T	1.37:g.161480636G>T	ENSP00000271450:p.Gly211Val					FCGR2A_ENST00000467525.1_3'UTR|FCGR2A_ENST00000367972.4_Missense_Mutation_p.G210V	p.G211V	NM_001136219.1|NM_021642.3	NP_001129691.1|NP_067674.2	P12318	FCG2A_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00376)		5	670	+	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		211					Q8WUN1|Q8WW64	Missense_Mutation	SNP	ENST00000271450.6	37	c.632G>T	CCDS44264.1	.	.	.	.	.	.	.	.	.	.	.	4.329	0.060442	0.08339	.	.	ENSG00000143226	ENST00000367972;ENST00000271450	T;T	0.01981	4.52;4.52	2.25	1.32	0.21799	.	8.365550	0.00166	N	0.000001	T	0.00875	0.0029	L	0.36672	1.1	0.26292	N	0.978114	B;B	0.15141	0.002;0.012	B;B	0.19666	0.005;0.026	T	0.46527	-0.9185	9	0.51188	T	0.08	.	4.7047	0.12844	0.1854:0.0:0.8146:0.0	.	211;210	P12318;P12318-2	FCG2A_HUMAN;.	V	210;211	ENSP00000356949:G210V;ENSP00000271450:G211V	ENSP00000271450:G211V	G	+	2	0	FCGR2A	159747260	0.000000	0.05858	0.001000	0.08648	0.006000	0.05464	-0.114000	0.10757	0.498000	0.27948	0.549000	0.68633	GGC		0.512	FCGR2A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000083318.3	NM_021642		7	114	1	0	0.0293803	1	0.0293803	7	114					T	161480636	G	T	161480636	3	4	273	1	0	0	0	0	1	0	0	0	5781	1203	42	5	650	5	FCGR2A	1	161480636	Missense_Mutation	SNP	G	TCGA-J4-A6G1-01A-11D-A30X-08	5629609	161480636	87769985	7	12672											
HMCN1	83872	broad.mit.edu	37	chr1	186106992	186106992	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcacaaggagctgtggacgCggcaaccaaaccaggaccag	13	3	13	12	2	0	0	0	0	0	0	0	3	0	3	3	4	4	3	3	4	3	0			TCGA-J4-A6G1-01A-11D-A30X-08	TCGA-J4-A6G1-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2f45990-6e87-46f9-893c-8db4e8eec983	42a1f7a6-b577-4000-9a4f-c6cd38462317	g.chr1:186106992C>T	ENST00000271588.4	+	89	14041	c.13812C>T	c.(13810-13812)cgC>cgT	p.R4604R	HMCN1_ENST00000367492.2_Silent_p.R4604R	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	4604	TSP type-1 2. {ECO:0000255|PROSITE- ProRule:PRU00210}.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)	p.R4604R(1)		NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						GCTGTGGACGCGGCAACCAAA	0.463																																						ENST00000271588.4																			1	Substitution - coding silent(1)	p.R4604R(1)	breast(1)	NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						c.(13810-13812)cgC>cgT		hemicentin 1							182	171	175					1																	186106992		2203	4300	6503	SO:0001819	synonymous_variant	83872				response to stimulus|visual perception	basement membrane	calcium ion binding	g.chr1:186106992C>T	AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"Fibulins", "Immunoglobulin superfamily / I-set domain containing"	19194	protein-coding gene	gene with protein product	"fibulin 6"	608548	"age-related macular degeneration 1 (senile macular degeneration)"	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.13812C>T	1.37:g.186106992C>T						HMCN1_ENST00000367492.2_Silent_p.R4604R	p.R4604R	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN			89	14041	+			4604			TSP type-1 2.		A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Silent	SNP	ENST00000271588.4	37	c.13812C>T	CCDS30956.1																																																																																				0.463	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935		5	95	0	0	0	1	0	5	95					T	186106992	C	T	186106992	2	4	273	1	0	0	0	0	0	0	0	1	7220	755	27	1		1	HMCN1	1	186106992	Silent	SNP	C	TCGA-J4-A6G1-01A-11D-A30X-08	24626356	186106992	63143629	8	12673											
RYR2	6262	broad.mit.edu	37	chr1	237991726	237991726	+	Frame_Shift_Del	DEL	A	A	-																															actaagagaccaacaggaacAagtcaaagaagacatggagg																										TCGA-J4-A6G1-01A-11D-A30X-08	TCGA-J4-A6G1-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2f45990-6e87-46f9-893c-8db4e8eec983	42a1f7a6-b577-4000-9a4f-c6cd38462317	g.chr1:237991726delA	ENST00000366574.2	+	102	14953	c.14636delA	c.(14635-14637)caafs	p.Q4879fs	RYR2_ENST00000542537.1_Frame_Shift_Del_p.Q4863fs|RYR2_ENST00000360064.6_Frame_Shift_Del_p.Q4885fs	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4879					BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			CAACAGGAACAAGTCAAAGAA	0.363																																						ENST00000366574.2																			0				NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586						c.(14635-14637)cafs		ryanodine receptor 2 (cardiac)							99	100	100					1																	237991726		1868	4103	5971	SO:0001589	frameshift_variant	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237991726delA	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"Ion channels / Ryanodine receptors", "EF-hand domain containing"	10484	protein-coding gene	gene with protein product		180902	"arrhythmogenic right ventricular dysplasia 2"	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.14636delA	1.37:g.237991726delA	ENSP00000355533:p.Gln4879fs					RYR2_ENST00000542537.1_Frame_Shift_Del_p.Q4863fs|RYR2_ENST00000360064.6_Frame_Shift_Del_p.Q4885fs	p.Q4879fs	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		102	14953	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	4879					Q15411|Q546N8|Q5T3P2	Frame_Shift_Del	DEL	ENST00000366574.2	37	c.14636delA	CCDS55691.1																																																																																				0.363	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		2	4						2	4	---	---	---	---	-	237991726	A	-	237991726	7	5	273	1	0	1	0	1	0	0	0	0	13769	130	5	0	15042	0	RYR2	1	237991726	Frame_Shift_Del	DEL	A	TCGA-J4-A6G1-01A-11D-A30X-08	51884734	237991726	11258895	9	12674											
NEU2	4759	broad.mit.edu	37	chr2	233899740	233899740	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atgttcaccctgaagcaagcCttcccagctgagtacctgcc	9	9	8	15	0	1	2	1	2	0	0	2	2	2	2	5	0	5	4	5	0	3	3			TCGA-J4-A6G1-01A-11D-A30X-08	TCGA-J4-A6G1-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2f45990-6e87-46f9-893c-8db4e8eec983	42a1f7a6-b577-4000-9a4f-c6cd38462317	g.chr2:233899740C>A	ENST00000233840.3	+	2	1116	c.1116C>A	c.(1114-1116)gcC>gcA	p.A372A		NM_005383.2	NP_005374.2	Q9Y3R4	NEUR2_HUMAN	sialidase 2 (cytosolic sialidase)	372					ganglioside catabolic process (GO:0006689)|glycosphingolipid metabolic process (GO:0006687)|oligosaccharide catabolic process (GO:0009313)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	exo-alpha-(2->3)-sialidase activity (GO:0052794)|exo-alpha-(2->6)-sialidase activity (GO:0052795)|exo-alpha-(2->8)-sialidase activity (GO:0052796)			endometrium(3)|large_intestine(2)|lung(10)|skin(2)|urinary_tract(1)	18		Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0271)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0839)		Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000311)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)|GBM - Glioblastoma multiforme(43;0.0488)	Oseltamivir(DB00198)|Zanamivir(DB00558)	TGAAGCAAGCCTTCCCAGCTG	0.597																																						ENST00000233840.3																			0				endometrium(3)|large_intestine(2)|lung(10)|skin(2)|urinary_tract(1)	18						c.(1114-1116)gcC>gcA		sialidase 2 (cytosolic sialidase)							118	123	121					2																	233899740		2203	4299	6502	SO:0001819	synonymous_variant	4759						exo-alpha-sialidase activity	g.chr2:233899740C>A	Y16535	CCDS2501.1	2q37	2008-05-27			ENSG00000115488	ENSG00000115488			7759	protein-coding gene	gene with protein product	"N-acetyl-alpha-neuraminidase 2"	605528				10191093, 14613940	Standard	NM_005383		Approved	SIAL2	uc010zmn.2	Q9Y3R4	OTTHUMG00000133274	ENST00000233840.3:c.1116C>A	2.37:g.233899740C>A							p.A372A	NM_005383.2	NP_005374.2	Q9Y3R4	NEUR2_HUMAN		Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000311)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)|GBM - Glioblastoma multiforme(43;0.0488)	2	1116	+		Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0271)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0839)	372					Q3KNW4|Q6NTB4	Silent	SNP	ENST00000233840.3	37	c.1116C>A	CCDS2501.1																																																																																				0.597	NEU2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257053.2	NM_005383		7	136	1	0	5.18039e-06	1	5.68172e-06	7	136					A	233899740	C	A	233899740	2	1	273	1	0	0	0	0	0	0	0	1	10342	668	24	5		5	NEU2	2	233899740	Silent	SNP	C	TCGA-J4-A6G1-01A-11D-A30X-08		233899740	9299633	10	12675											
HYAL1	3373	broad.mit.edu	37	chr3	50340316	50340316	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggccggttgggtagcaagggGcccctaaagccttgggccat	7	7	16	11	1	0	0	0	0	0	0	0	0	0	0	5	6	2	3	5	6	4	4			TCGA-J4-A6G1-01A-11D-A30X-08	TCGA-J4-A6G1-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2f45990-6e87-46f9-893c-8db4e8eec983	42a1f7a6-b577-4000-9a4f-c6cd38462317	g.chr3:50340316G>T	ENST00000266031.4	-	1	687	c.72C>A	c.(70-72)ggC>ggA	p.G24G	HYAL1_ENST00000395144.2_Silent_p.G24G|HYAL1_ENST00000457214.2_Intron|HYAL1_ENST00000447605.2_Intron|HYAL1_ENST00000395143.2_Silent_p.G24G|HYAL1_ENST00000320295.8_Silent_p.G24G			Q12794	HYAL1_HUMAN	hyaluronoglucosaminidase 1	24					carbohydrate metabolic process (GO:0005975)|cartilage development (GO:0051216)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to interleukin-1 (GO:0071347)|cellular response to pH (GO:0071467)|cellular response to platelet-derived growth factor stimulus (GO:0036120)|cellular response to tumor necrosis factor (GO:0071356)|cellular response to UV-B (GO:0071493)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|embryonic skeletal joint morphogenesis (GO:0060272)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan biosynthetic process (GO:0030213)|hyaluronan catabolic process (GO:0030214)|hyaluronan metabolic process (GO:0030212)|inflammatory response (GO:0006954)|negative regulation of cell growth (GO:0030308)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell growth (GO:0030307)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of growth (GO:0045927)|positive regulation of hyaluranon cable assembly (GO:1900106)|response to antibiotic (GO:0046677)|response to reactive oxygen species (GO:0000302)|response to virus (GO:0009615)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|hyaluranon cable (GO:0036117)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)	hyaluronan synthase activity (GO:0050501)|hyalurononglucosaminidase activity (GO:0004415)|transcription factor binding (GO:0008134)			cervix(1)|endometrium(2)|large_intestine(1)|lung(6)|prostate(1)	11				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		GTAGCAAGGGGCCCCTAAAGC	0.612																																						ENST00000266031.4																			0				cervix(1)|endometrium(2)|large_intestine(1)|lung(6)|prostate(1)	11						c.(70-72)ggC>ggA		hyaluronoglucosaminidase 1	Hyaluronidase(DB00070)						54	54	54					3																	50340316		2203	4300	6503	SO:0001819	synonymous_variant	3373					extracellular space|lysosome	hyalurononglucosaminidase activity	g.chr3:50340316G>T	U90094	CCDS2816.1, CCDS2817.1, CCDS46832.1, CCDS46833.1	3p21.31	2014-07-17			ENSG00000114378	ENSG00000114378	3.2.1.35		5320	protein-coding gene	gene with protein product		607071				9223416, 9409739	Standard	NM_153281		Approved	LUCA1, HYAL-1, FUS2, NAT6	uc003czp.4	Q12794	OTTHUMG00000156941	ENST00000266031.4:c.72C>A	3.37:g.50340316G>T						HYAL1_ENST00000447605.2_Intron|HYAL1_ENST00000395144.2_Silent_p.G24G|HYAL1_ENST00000320295.8_Silent_p.G24G|HYAL1_ENST00000395143.2_Silent_p.G24G|HYAL1_ENST00000457214.2_Intron	p.G24G			Q12794	HYAL1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)	1	687	-			24					Q6FH23|Q6PIZ6|Q7KYU2|Q7LE34|Q8NFK5|Q8NFK6|Q8NFK7|Q8NFK8|Q8NFK9|Q93013|Q9UKD5|Q9UNI8	Silent	SNP	ENST00000266031.4	37	c.72C>A	CCDS2816.1																																																																																				0.612	HYAL1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346703.1			4	53	1	0	0.000602214	1	0.000620463	4	53					T	50340316	G	T	50340316	2	4	273	1	0	0	0	0	0	0	0	1	7463	1190	42	5		5	HYAL1	3	50340316	Silent	SNP	G	TCGA-J4-A6G1-01A-11D-A30X-08		50340316	147682114	11	12676											
ZCCHC4	29063	broad.mit.edu	37	chr4	25314511	25314511	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggaagctcgggaatggaggTggtgcttcctttggatcctg	6	11	17	7	1	0	0	0	0	0	0	3	4	2	4	2	6	2	2	2	6	2	2			TCGA-J4-A6G1-01A-11D-A30X-08	TCGA-J4-A6G1-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2f45990-6e87-46f9-893c-8db4e8eec983	42a1f7a6-b577-4000-9a4f-c6cd38462317	g.chr4:25314511T>C	ENST00000302874.4	+	1	104	c.80T>C	c.(79-81)gTg>gCg	p.V27A	ZCCHC4_ENST00000505451.1_3'UTR	NM_024936.2	NP_079212.2	Q9H5U6	ZCHC4_HUMAN	zinc finger, CCHC domain containing 4	27							methyltransferase activity (GO:0008168)|nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|pancreas(1)	9		Breast(46;0.0503)				GGAATGGAGGTGGTGCTTCCT	0.672											OREG0016141	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000302874.4																			0				endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|pancreas(1)	9						c.(79-81)gTg>gCg		zinc finger, CCHC domain containing 4							68	84	79					4																	25314511		2078	4209	6287	SO:0001583	missense	29063						methyltransferase activity|nucleic acid binding|zinc ion binding	g.chr4:25314511T>C	AF161537	CCDS43218.1	4p15.31	2014-02-18			ENSG00000168228	ENSG00000168228		"Zinc fingers, CCHC domain containing"	22917	protein-coding gene	gene with protein product	"zinc finger, GRF-type containing 4"	611792				11042152	Standard	NM_024936		Approved	HSPC052, FLJ23024, ZGRF4	uc003grl.4	Q9H5U6	OTTHUMG00000160563	ENST00000302874.4:c.80T>C	4.37:g.25314511T>C	ENSP00000303468:p.Val27Ala		OREG0016141	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	778	ZCCHC4_ENST00000505451.1_3'UTR	p.V27A	NM_024936.2	NP_079212.2	Q9H5U6	ZCHC4_HUMAN			1	104	+		Breast(46;0.0503)	27					B2RXF6|B4DRD8|B7ZW20|Q5IW78|Q96AN7	Missense_Mutation	SNP	ENST00000302874.4	37	c.80T>C	CCDS43218.1	.	.	.	.	.	.	.	.	.	.	T	16.33	3.092553	0.56075	.	.	ENSG00000168228	ENST00000302874;ENST00000450254	T	0.30182	1.54	5.71	4.55	0.56014	.	0.232106	0.42682	D	0.000669	T	0.19886	0.0478	L	0.29908	0.895	0.37807	D	0.927918	B	0.29378	0.243	B	0.27380	0.079	T	0.14727	-1.0462	10	0.72032	D	0.01	-7.7492	5.4209	0.16400	0.0:0.0874:0.1779:0.7347	.	27	Q9H5U6	ZCHC4_HUMAN	A	27;3	ENSP00000303468:V27A	ENSP00000303468:V27A	V	+	2	0	ZCCHC4	24923609	1.000000	0.71417	1.000000	0.80357	0.157000	0.22087	2.539000	0.45718	2.176000	0.68965	0.533000	0.62120	GTG		0.672	ZCCHC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361151.1			7	100	0	0	0	1	0	7	100					C	25314511	T	C	25314511	3	2	273	1	0	0	0	0	1	0	0	0	17587	1696	59	4	82	4	ZCCHC4	4	25314511	Missense_Mutation	SNP	T	TCGA-J4-A6G1-01A-11D-A30X-08		25314511	165839765	12	12677											
PCDHB15	56121	broad.mit.edu	37	chr5	140626461	140626461	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaccgagcagagcataaccGtgctggtgtcggacgtcaat	12	7	12	10	4	1	1	1	0	0	1	2	3	1	2	2	2	5	3	2	2	3	1	rs201928276		TCGA-J4-A6G1-01A-11D-A30X-08	TCGA-J4-A6G1-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2f45990-6e87-46f9-893c-8db4e8eec983	42a1f7a6-b577-4000-9a4f-c6cd38462317	g.chr5:140626461G>A	ENST00000231173.3	+	1	1315	c.1315G>A	c.(1315-1317)Gtg>Atg	p.V439M		NM_018935.2	NP_061758.1	Q9Y5E8	PCDBF_HUMAN	protocadherin beta 15	439	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|endometrium(8)|kidney(3)|large_intestine(14)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	61			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GAGCATAACCGTGCTGGTGTC	0.592																																						ENST00000231173.3																			0				NS(1)|breast(3)|endometrium(8)|kidney(3)|large_intestine(14)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	61						c.(1315-1317)Gtg>Atg									122	114	117					5																	140626461		2203	4300	6503	SO:0001583	missense	0				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	g.chr5:140626461G>A	AF152494	CCDS4257.1	5q31	2011-06-07			ENSG00000113248	ENSG00000113248		"Cadherins / Protocadherins : Clustered"	8686	other	protocadherin		606341				10380929	Standard	NM_018935		Approved	PCDH-BETA15	uc003lje.3	Q9Y5E8	OTTHUMG00000129609	ENST00000231173.3:c.1315G>A	5.37:g.140626461G>A	ENSP00000231173:p.Val439Met						p.V439M	NM_018935.2	NP_061758.1	Q9Y5E8	PCDBF_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1315	+			439			Cadherin 4.		Q8IUX5	Missense_Mutation	SNP	ENST00000231173.3	37	c.1315G>A	CCDS4257.1	.	.	.	.	.	.	.	.	.	.	G	7.300	0.612885	0.14066	.	.	ENSG00000113248	ENST00000231173	T	0.72725	-0.68	4.52	1.47	0.22746	Cadherin (4);Cadherin conserved site (1);Cadherin-like (1);	.	.	.	.	D	0.83912	0.5357	H	0.99182	4.46	0.09310	N	1	P	0.48350	0.909	P	0.50192	0.634	T	0.75300	-0.3366	9	0.66056	D	0.02	.	3.7034	0.08391	0.0863:0.3182:0.3874:0.208	.	439	Q9Y5E8	PCDBF_HUMAN	M	439	ENSP00000231173:V439M	ENSP00000231173:V439M	V	+	1	0	PCDHB15	140606645	0.000000	0.05858	0.023000	0.16930	0.029000	0.11900	-0.382000	0.07408	0.445000	0.26639	0.485000	0.47835	GTG		0.592	PCDHB15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251804.2	NM_018935		7	133	0	0	0	1	0	7	133					A	140626461	G	A	140626461	3	1	273	1	0	0	0	0	1	0	0	0	11540	1145	40	1	1317	1	PCDHB15	5	140626461	Missense_Mutation	SNP	G	TCGA-J4-A6G1-01A-11D-A30X-08		140626461	40288799	13	12678											
EPO	2056	broad.mit.edu	37	chr7	100320666	100320666	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cgaacaatcactgctgacacTttccgcaaactcttccgagt	11	10	6	14	3	2	1	1	1	1	0	4	3	4	1	2	0	3	2	2	0	3	2			TCGA-J4-A6G1-01A-11D-A30X-08	TCGA-J4-A6G1-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2f45990-6e87-46f9-893c-8db4e8eec983	42a1f7a6-b577-4000-9a4f-c6cd38462317	g.chr7:100320666T>G	ENST00000252723.2	+	5	673	c.492T>G	c.(490-492)acT>acG	p.T164T		NM_000799.2	NP_000790.2	P01588	EPO_HUMAN	erythropoietin	164					aging (GO:0007568)|apoptotic process (GO:0006915)|blood circulation (GO:0008015)|cellular hyperosmotic response (GO:0071474)|cellular response to hypoxia (GO:0071456)|embryo implantation (GO:0007566)|erythrocyte maturation (GO:0043249)|hemoglobin biosynthetic process (GO:0042541)|negative regulation of calcium ion transport into cytosol (GO:0010523)|negative regulation of cation channel activity (GO:2001258)|negative regulation of erythrocyte apoptotic process (GO:1902251)|negative regulation of intrinsic apoptotic signaling pathway in response to osmotic stress (GO:1902219)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of Ras protein signal transduction (GO:0046579)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|response to axon injury (GO:0048678)|response to electrical stimulus (GO:0051602)|response to estrogen (GO:0043627)|response to hyperoxia (GO:0055093)|response to interleukin-1 (GO:0070555)|response to lipopolysaccharide (GO:0032496)|response to salt stress (GO:0009651)|response to testosterone (GO:0033574)|response to vitamin A (GO:0033189)|signal transduction (GO:0007165)	cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	protein kinase activator activity (GO:0030295)			central_nervous_system(2)|endometrium(2)|lung(7)|prostate(1)	12	Lung NSC(181;0.041)|all_lung(186;0.0581)					CTGCTGACACTTTCCGCAAAC	0.572																																						ENST00000252723.2																			0				central_nervous_system(2)|endometrium(2)|lung(7)|prostate(1)	12						c.(490-492)acT>acG		erythropoietin	Darbepoetin alfa(DB00012)|Epoetin alfa(DB00016)						131	133	132					7																	100320666		2203	4300	6503	SO:0001819	synonymous_variant	2056				blood circulation|cellular hyperosmotic response|erythrocyte maturation|negative regulation of apoptosis|negative regulation of ion transmembrane transporter activity|negative regulation of sodium ion transport|positive regulation of cell proliferation|positive regulation of DNA replication|positive regulation of Ras protein signal transduction|positive regulation of transcription, DNA-dependent|positive regulation of tyrosine phosphorylation of Stat5 protein|signal transduction	extracellular space	erythropoietin receptor binding|eukaryotic cell surface binding|hormone activity	g.chr7:100320666T>G	X02157	CCDS5705.1	7q21	2014-01-30			ENSG00000130427	ENSG00000130427		"Endogenous ligands"	3415	protein-coding gene	gene with protein product		133170				9799793, 3838366	Standard	NM_000799		Approved	EP	uc003uwi.3	P01588	OTTHUMG00000152121	ENST00000252723.2:c.492T>G	7.37:g.100320666T>G							p.T164T	NM_000799.2	NP_000790.2	P01588	EPO_HUMAN			5	673	+	Lung NSC(181;0.041)|all_lung(186;0.0581)		164					Q2M2L6|Q549U2|Q9UDZ0|Q9UEZ5|Q9UHA0	Silent	SNP	ENST00000252723.2	37	c.492T>G	CCDS5705.1																																																																																				0.572	EPO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325323.1	NM_000799		7	149	0	0	0	1	0	7	149					G	100320666	T	G	100320666	2	3	273	1	0	0	0	0	0	0	0	1	5188	1596	56	5		5	EPO	7	100320666	Silent	SNP	T	TCGA-J4-A6G1-01A-11D-A30X-08		100320666	58817997	14	12679											
TBC1D2	55357	broad.mit.edu	37	chr9	100970983	100970983	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggcagtagccgatggtggggTtctgccaggagaaggccagc	8	6	18	9	1	1	1	0	0	1	1	1	3	1	1	3	6	3	3	3	6	2	2			TCGA-J4-A6G1-01A-11D-A30X-08	TCGA-J4-A6G1-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2f45990-6e87-46f9-893c-8db4e8eec983	42a1f7a6-b577-4000-9a4f-c6cd38462317	g.chr9:100970983T>G	ENST00000375064.1	-	9	2155	c.2117A>C	c.(2116-2118)aAc>aCc	p.N706T	TBC1D2_ENST00000375063.1_Missense_Mutation_p.N246T|TBC1D2_ENST00000493589.2_5'UTR|TBC1D2_ENST00000375066.5_Missense_Mutation_p.N706T|TBC1D2_ENST00000342112.5_Missense_Mutation_p.N488T	NM_001267571.1	NP_001254500.1	Q9BYX2	TBD2A_HUMAN	TBC1 domain family, member 2	706	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.				positive regulation of Rab GTPase activity (GO:0032851)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)	cadherin binding (GO:0045296)|Rab GTPase activator activity (GO:0005097)			breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;2.55e-37)		GATGGTGGGGTTCTGCCAGGA	0.602																																						ENST00000375066.5																			0				breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24						c.(2116-2118)aAc>aCc		TBC1 domain family, member 2							72	71	71					9																	100970983		2203	4300	6503	SO:0001583	missense	55357					cell junction|cytoplasmic membrane-bounded vesicle|nucleus	Rab GTPase activator activity	g.chr9:100970983T>G	AY026527	CCDS35080.1, CCDS59137.1, CCDS75865.1	9q22.32	2011-11-30			ENSG00000095383	ENSG00000095383			18026	protein-coding gene	gene with protein product	"prostate antigen recognized and identified by SEREX"	609871					Standard	NM_018421		Approved	PARIS1, TBC1D2A, Armus	uc011lvb.2	Q9BYX2	OTTHUMG00000020343	ENST00000375064.1:c.2117A>C	9.37:g.100970983T>G	ENSP00000364205:p.Asn706Thr					TBC1D2_ENST00000493589.2_5'UTR|TBC1D2_ENST00000342112.5_Missense_Mutation_p.N488T|TBC1D2_ENST00000375064.1_Missense_Mutation_p.N706T|TBC1D2_ENST00000375063.1_Missense_Mutation_p.N246T	p.N706T	NM_018421.3	NP_060891.3	Q9BYX2	TBD2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(323;2.55e-37)	9	2208	-		Myeloproliferative disorder(762;0.0255)	706			Rab-GAP TBC.		B3KWD1|B4DQ05|B9A6J7|Q59EU0|Q5TBQ5|Q6IPC7|Q7L1K8|Q8WYT1|Q9H6A2|Q9NSH4	Missense_Mutation	SNP	ENST00000375064.1	37	c.2117A>C		.	.	.	.	.	.	.	.	.	.	T	20.4	3.982093	0.74474	.	.	ENSG00000095383	ENST00000375064;ENST00000375066;ENST00000342112;ENST00000375063	T;T;T;T	0.06687	3.27;3.27;3.27;3.27	5.66	5.66	0.87406	Rab-GAP/TBC domain (4);	0.000000	0.85682	D	0.000000	T	0.33440	0.0863	H	0.96015	3.755	0.58432	D	0.999999	D;P	0.56746	0.977;0.948	P;P	0.51974	0.686;0.558	T	0.54029	-0.8354	10	0.87932	D	0	.	14.8687	0.70437	0.0:0.0:0.0:1.0	.	706;706	Q9BYX2;Q9BYX2-2	TBD2A_HUMAN;.	T	706;706;488;246	ENSP00000364205:N706T;ENSP00000364207:N706T;ENSP00000341567:N488T;ENSP00000364203:N246T	ENSP00000341567:N488T	N	-	2	0	TBC1D2	100010804	1.000000	0.71417	1.000000	0.80357	0.549000	0.35272	7.965000	0.87945	2.160000	0.67779	0.533000	0.62120	AAC		0.602	TBC1D2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000053366.1	NM_018421		4	49	0	0	0	1	0	4	49					G	100970983	T	G	100970983	3	3	273	1	0	0	0	0	1	0	0	0	15605	1725	60	5	656	5	TBC1D2	9	100970983	Missense_Mutation	SNP	T	TCGA-J4-A6G1-01A-11D-A30X-08		100970983	40242448	15	12680											
MAPKAP1	79109	broad.mit.edu	37	chr9	128268595	128268595	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	ggcggccaacgtactgttctCgcggaccaggcagaactccc	8	6	12	15	4	1	1	0	0	1	1	3	2	2	2	3	4	3	3	3	4	3	2			TCGA-J4-A6G1-01A-11D-A30X-08	TCGA-J4-A6G1-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2f45990-6e87-46f9-893c-8db4e8eec983	42a1f7a6-b577-4000-9a4f-c6cd38462317	g.chr9:128268595C>G	ENST00000373498.1	-	7	1128	c.1060G>C	c.(1060-1062)Gag>Cag	p.E354Q	MAPKAP1_ENST00000373497.5_Intron|MAPKAP1_ENST00000373503.3_Missense_Mutation_p.E162Q|MAPKAP1_ENST00000394063.1_Missense_Mutation_p.E162Q|MAPKAP1_ENST00000265960.3_Missense_Mutation_p.E354Q|MAPKAP1_ENST00000350766.3_Intron|MAPKAP1_ENST00000373511.2_Missense_Mutation_p.E354Q			Q9BPZ7	SIN1_HUMAN	mitogen-activated protein kinase associated protein 1	354					epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|negative regulation of Ras protein signal transduction (GO:0046580)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|substantia nigra development (GO:0021762)|T cell costimulation (GO:0031295)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	phosphatidic acid binding (GO:0070300)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein kinase binding (GO:0019901)|Ras GTPase binding (GO:0017016)			endometrium(2)|kidney(1)|large_intestine(2)|lung(15)|ovary(3)	23						GTACTGTTCTCGCGGACCAGG	0.577																																						ENST00000265960.3																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(15)|ovary(3)	23						c.(1060-1062)Gag>Cag		mitogen-activated protein kinase associated protein 1							103	86	91					9																	128268595		2203	4300	6503	SO:0001583	missense	79109				nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|response to stress|T cell costimulation	cytoplasmic membrane-bounded vesicle|cytosol|nucleus|plasma membrane	Ras GTPase binding	g.chr9:128268595C>G	M37191	CCDS6864.1, CCDS35139.1, CCDS35140.1, CCDS35141.1, CCDS48020.1	9q34.11	2008-02-05			ENSG00000119487	ENSG00000119487			18752	protein-coding gene	gene with protein product	"stress-activated protein kinase-interacting 1"	610558				15363842	Standard	NM_001006620		Approved	MGC2745, SIN1, MIP1	uc004bpv.3	Q9BPZ7	OTTHUMG00000020683	ENST00000373498.1:c.1060G>C	9.37:g.128268595C>G	ENSP00000362597:p.Glu354Gln					MAPKAP1_ENST00000373511.2_Missense_Mutation_p.E354Q|MAPKAP1_ENST00000373503.3_Missense_Mutation_p.E162Q|MAPKAP1_ENST00000350766.3_Intron|MAPKAP1_ENST00000373498.1_Missense_Mutation_p.E354Q|MAPKAP1_ENST00000373497.5_Intron|MAPKAP1_ENST00000394063.1_Missense_Mutation_p.E162Q	p.E354Q	NM_001006617.1	NP_001006618.1	Q9BPZ7	SIN1_HUMAN			8	1392	-			354					A8K1Z5|B1AMA4|B7Z309|Q00426|Q5JSV5|Q5JSV6|Q5JSV9|Q658R0|Q699U1|Q699U2|Q699U3|Q699U4|Q6GVJ0|Q6GVJ1|Q6GVJ2	Missense_Mutation	SNP	ENST00000373498.1	37	c.1060G>C	CCDS35140.1	.	.	.	.	.	.	.	.	.	.	C	18.13	3.555629	0.65425	.	.	ENSG00000119487	ENST00000373511;ENST00000373503;ENST00000373498;ENST00000265960;ENST00000394063	.	.	.	5.93	5.02	0.67125	.	0.000000	0.85682	D	0.000000	T	0.46288	0.1385	L	0.38175	1.15	0.80722	D	1	B;B	0.32693	0.38;0.151	B;B	0.32805	0.13;0.153	T	0.32295	-0.9912	9	0.12766	T	0.61	-9.2912	15.5195	0.75854	0.0:0.9328:0.0:0.0672	.	354;354	Q9BPZ7-3;Q9BPZ7	.;SIN1_HUMAN	Q	354;162;354;354;162	.	ENSP00000265960:E354Q	E	-	1	0	MAPKAP1	127308416	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.803000	0.85983	2.818000	0.97014	0.591000	0.81541	GAG		0.577	MAPKAP1-009	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054092.1			3	53	0	0	0	1	0	3	53					G	128268595	C	G	128268595	3	3	273	1	0	0	0	0	1	0	0	0	9288	893	31	5	528	5	MAPKAP1	9	128268595	Missense_Mutation	SNP	C	TCGA-J4-A6G1-01A-11D-A30X-08	27297612	128268595	12944836	16	12681											
RBM17	84991	broad.mit.edu	37	chr10	6157238	6157238	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atgatgaagcagtacggataTttttagaatttgagagagtt	14	14	11	2	1	0	5	0	3	0	2	0	7	0	6	0	1	2	3	0	1	5	7			TCGA-J4-A6G1-01A-11D-A30X-08	TCGA-J4-A6G1-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2f45990-6e87-46f9-893c-8db4e8eec983	42a1f7a6-b577-4000-9a4f-c6cd38462317	g.chr10:6157238T>C	ENST00000446108.1	+	11	1710	c.1066T>C	c.(1066-1068)Ttt>Ctt	p.F356L	RBM17_ENST00000379888.4_Missense_Mutation_p.F356L|RBM17_ENST00000476706.1_3'UTR	NM_001145547.1	NP_001139019.1	Q96I25	SPF45_HUMAN	RNA binding motif protein 17	356	RRM.				alternative mRNA splicing, via spliceosome (GO:0000380)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(2)|lung(4)|prostate(1)|urinary_tract(2)	19						AGTACGGATATTTTTAGAATT	0.343																																						ENST00000446108.1																			0				NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(2)|lung(4)|prostate(1)|urinary_tract(2)	19						c.(1066-1068)Ttt>Ctt		RNA binding motif protein 17							59	59	59					10																	6157238		2203	4300	6503	SO:0001583	missense	84991				mRNA processing|RNA splicing	spliceosomal complex	nucleotide binding|protein binding|RNA binding	g.chr10:6157238T>C	AF083384	CCDS7077.1	10p15.1	2013-01-28			ENSG00000134453	ENSG00000134453		"RNA binding motif (RRM) containing", "G patch domain containing"	16944	protein-coding gene	gene with protein product	"splicing factor 45kDa"	606935				9731529	Standard	NM_032905		Approved	SPF45, MGC14439	uc001ijb.3	Q96I25	OTTHUMG00000017618	ENST00000446108.1:c.1066T>C	10.37:g.6157238T>C	ENSP00000388638:p.Phe356Leu					RBM17_ENST00000379888.4_Missense_Mutation_p.F356L|RBM17_ENST00000476706.1_3'UTR	p.F356L	NM_001145547.1	NP_001139019.1	Q96I25	SPF45_HUMAN			11	1710	+			356			RRM.		Q96GY6	Missense_Mutation	SNP	ENST00000446108.1	37	c.1066T>C	CCDS7077.1	.	.	.	.	.	.	.	.	.	.	T	24.6	4.549573	0.86127	.	.	ENSG00000134453	ENST00000379888;ENST00000446108	.	.	.	4.74	4.74	0.60224	RNA recognition motif domain, eukaryote (1);Nucleotide-binding, alpha-beta plait (1);	0.000000	0.85682	D	0.000000	D	0.83746	0.5321	M	0.92880	3.355	0.80722	D	1	D	0.67145	0.996	P	0.61800	0.894	D	0.88175	0.2867	9	0.72032	D	0.01	-14.8869	14.5653	0.68171	0.0:0.0:0.0:1.0	.	356	Q96I25	SPF45_HUMAN	L	356	.	ENSP00000369218:F356L	F	+	1	0	RBM17	6197244	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.069000	0.76755	1.874000	0.54306	0.533000	0.62120	TTT		0.343	RBM17-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046635.1	NM_032905		3	24	0	0	0	1	0	3	24					C	6157238	T	C	6157238	3	2	273	1	0	0	0	0	1	0	0	0	13119	1493	52	4	1104	4	RBM17	10	6157238	Missense_Mutation	SNP	T	TCGA-J4-A6G1-01A-11D-A30X-08		6157238	129377509	17	12682											
DHX8	1659	broad.mit.edu	37	chr17	41582116	41582116	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggggcaacaaagcctcttacGgaaaaaagacccagatgtca	16	5	10	10	1	2	2	1	0	1	2	2	3	2	3	2	3	3	1	2	3	6	1			TCGA-J4-A6G1-01A-11D-A30X-08	TCGA-J4-A6G1-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2f45990-6e87-46f9-893c-8db4e8eec983	42a1f7a6-b577-4000-9a4f-c6cd38462317	g.chr17:41582116G>A	ENST00000262415.3	+	12	1723	c.1651G>A	c.(1651-1653)Gga>Aga	p.G551R	DHX8_ENST00000540306.1_Missense_Mutation_p.G551R	NM_004941.1	NP_004932.1	Q14562	DHX8_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 8	551					ATP catabolic process (GO:0006200)|mRNA splicing, via spliceosome (GO:0000398)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.08)		AGCCTCTTACGGAAAAAAGAC	0.478																																					NSCLC(56;1548 1661 49258 49987)	ENST00000262415.3																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42						c.(1651-1653)Gga>Aga		DEAH (Asp-Glu-Ala-His) box polypeptide 8							128	129	129					17																	41582116		2203	4300	6503	SO:0001583	missense	1659					catalytic step 2 spliceosome	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding	g.chr17:41582116G>A	D50487	CCDS11464.1	17q21.31	2005-08-19	2003-06-13	2003-06-20		ENSG00000067596		"DEAH-boxes"	2749	protein-coding gene	gene with protein product		600396	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 8 (RNA helicase)"	DDX8		7935475	Standard	NM_004941		Approved	HRH1, PRP22, PRPF22	uc002idu.1	Q14562		ENST00000262415.3:c.1651G>A	17.37:g.41582116G>A	ENSP00000262415:p.Gly551Arg					DHX8_ENST00000540306.1_Missense_Mutation_p.G551R	p.G551R	NM_004941.1	NP_004932.1	Q14562	DHX8_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.08)	12	1723	+		Breast(137;0.00908)	551						Missense_Mutation	SNP	ENST00000262415.3	37	c.1651G>A	CCDS11464.1	.	.	.	.	.	.	.	.	.	.	G	27.5	4.836276	0.91117	.	.	ENSG00000067596	ENST00000540306;ENST00000262415	T;T	0.08193	3.12;3.12	5.36	5.36	0.76844	.	0.000000	0.85682	D	0.000000	T	0.33118	0.0852	M	0.80508	2.5	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.91635	0.999;0.909	T	0.05451	-1.0884	10	0.66056	D	0.02	.	18.0709	0.89405	0.0:0.0:1.0:0.0	.	551;551	F5H658;Q14562	.;DHX8_HUMAN	R	551	ENSP00000437886:G551R;ENSP00000262415:G551R	ENSP00000262415:G551R	G	+	1	0	DHX8	38937642	1.000000	0.71417	0.781000	0.31783	0.944000	0.59088	9.752000	0.98900	2.526000	0.85167	0.555000	0.69702	GGA		0.478	DHX8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453485.1			9	118	0	0	0	1	0	9	118					A	41582116	G	A	41582116	3	1	273	1	0	0	0	0	1	0	0	0	4515	1117	39	2	1697	2	DHX8	17	41582116	Missense_Mutation	SNP	G	TCGA-J4-A6G1-01A-11D-A30X-08		41582116	39613094	18	12683											
GATAD2A	54815	broad.mit.edu	37	chr19	19576172	19576172	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	agaatgaccgaagaagcatgCcgaacacggagtcagaaacg	17	3	12	9	4	1	4	1	1	0	3	1	7	1	5	2	1	4	1	2	1	5	0			TCGA-J4-A6G1-01A-11D-A30X-08	TCGA-J4-A6G1-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2f45990-6e87-46f9-893c-8db4e8eec983	42a1f7a6-b577-4000-9a4f-c6cd38462317	g.chr19:19576172C>T	ENST00000360315.3	+	2	330	c.18C>T	c.(16-18)tgC>tgT	p.C6C	GATAD2A_ENST00000358713.3_Silent_p.C6C|GATAD2A_ENST00000429563.2_5'Flank|GATAD2A_ENST00000252577.5_Silent_p.C6C|GATAD2A_ENST00000404158.1_Silent_p.C6C|GATAD2A_ENST00000537887.1_5'UTR	NM_017660.3	NP_060130.3	Q86YP4	P66A_HUMAN	GATA zinc finger domain containing 2A	6					anterior neuropore closure (GO:0021506)|blood vessel development (GO:0001568)|DNA methylation (GO:0006306)|embryonic body morphogenesis (GO:0010172)|in utero embryonic development (GO:0001701)|negative regulation of transcription, DNA-templated (GO:0045892)|neural fold formation (GO:0001842)|programmed cell death (GO:0012501)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|NuRD complex (GO:0016581)	protein binding, bridging (GO:0030674)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1)	13						AAGAAGCATGCCGAACACGGA	0.473																																						ENST00000404158.1																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1)	13						c.(16-18)tgC>tgT		GATA zinc finger domain containing 2A							111	106	108					19																	19576172		1568	3582	5150	SO:0001819	synonymous_variant	54815				DNA methylation|negative regulation of transcription, DNA-dependent	nuclear speck|NuRD complex	protein binding, bridging|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:19576172C>T	AL390164	CCDS12402.2	19p13.11	2013-01-25			ENSG00000167491	ENSG00000167491		"GATA zinc finger domain containing"	29989	protein-coding gene	gene with protein product	"p66 alpha"	614997				12183469	Standard	NM_017660		Approved	p66alpha	uc010xqt.2	Q86YP4	OTTHUMG00000152541	ENST00000360315.3:c.18C>T	19.37:g.19576172C>T						GATAD2A_ENST00000252577.5_Silent_p.C6C|GATAD2A_ENST00000358713.3_Silent_p.C6C|GATAD2A_ENST00000360315.3_Silent_p.C6C|GATAD2A_ENST00000537887.1_5'UTR|GATAD2A_ENST00000494516.1_3'UTR	p.C6C			Q86YP4	P66A_HUMAN			4	436	+			6					B5MC40|Q7L3J2|Q96F28|Q9NPU2|Q9NXS1	Silent	SNP	ENST00000360315.3	37	c.18C>T	CCDS12402.2																																																																																				0.473	GATAD2A-202	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000326671.4	NM_017660		4	49	0	0	0	1	0	4	49					T	19576172	C	T	19576172	2	4	273	1	0	0	0	0	0	0	0	1	6260	747	26	3		3	GATAD2A	19	19576172	Silent	SNP	C	TCGA-J4-A6G1-01A-11D-A30X-08		19576172	39552811	19	12684											
DDX27	55661	broad.mit.edu	37	chr20	47850144	47850144	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tctccttgaagaatcctgtcCggatatttgtgaacagcaac	11	12	8	10	1	1	3	0	2	1	1	4	4	3	4	3	1	3	1	3	1	5	3			TCGA-J4-A6G1-01A-11D-A30X-08	TCGA-J4-A6G1-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2f45990-6e87-46f9-893c-8db4e8eec983	42a1f7a6-b577-4000-9a4f-c6cd38462317	g.chr20:47850144C>T	ENST00000371764.4	+	11	1273	c.1264C>T	c.(1264-1266)Cgg>Tgg	p.R422W	DDX27_ENST00000484427.1_3'UTR	NM_017895.7	NP_060365.7	Q96GQ7	DDX27_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 27	422	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.					nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	45			BRCA - Breast invasive adenocarcinoma(12;0.000899)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			GAATCCTGTCCGGATATTTGT	0.547																																						ENST00000371764.4																			0				NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	45						c.(1264-1266)Cgg>Tgg		DEAD (Asp-Glu-Ala-Asp) box polypeptide 27							129	124	126					20																	47850144		2203	4300	6503	SO:0001583	missense	55661					nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding	g.chr20:47850144C>T	AL049766	CCDS13416.1	20q13.13	2010-07-06	2003-06-13		ENSG00000124228	ENSG00000124228		"DEAD-boxes"	15837	protein-coding gene	gene with protein product			"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 27"				Standard	NM_017895		Approved	dJ686N3.1, DRS1	uc002xuh.3	Q96GQ7	OTTHUMG00000033072	ENST00000371764.4:c.1264C>T	20.37:g.47850144C>T	ENSP00000360828:p.Arg422Trp					DDX27_ENST00000484427.1_3'UTR	p.R422W	NM_017895.7	NP_060365.7	Q96GQ7	DDX27_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.000899)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		11	1273	+			422			Helicase ATP-binding.		A0AVB6|B7ZLY1|Q5VXM7|Q8WYG4|Q969N7|Q96F57|Q96L97|Q9BWY9|Q9BXF0|Q9H990|Q9NWU3|Q9P0C2|Q9UGD6	Missense_Mutation	SNP	ENST00000371764.4	37	c.1264C>T	CCDS13416.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.992389	0.74703	.	.	ENSG00000124228	ENST00000371764	T	0.45276	0.9	5.84	3.84	0.44239	DEAD-like helicase (2);	0.047550	0.85682	D	0.000000	T	0.64605	0.2613	M	0.80982	2.52	0.51233	D	0.999913	D	0.89917	1.0	D	0.74023	0.982	T	0.68864	-0.5296	10	0.87932	D	0	-12.4072	13.1218	0.59331	0.2914:0.7086:0.0:0.0	.	422	Q96GQ7	DDX27_HUMAN	W	422	ENSP00000360828:R422W	ENSP00000360828:R422W	R	+	1	2	DDX27	47283551	1.000000	0.71417	0.893000	0.35052	0.946000	0.59487	4.960000	0.63673	0.757000	0.33036	-0.310000	0.09108	CGG		0.547	DDX27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080485.1			8	174	0	0	0	1	0	8	174					T	47850144	C	T	47850144	3	4	273	1	0	0	0	0	1	0	0	0	4354	643	23	2	1306	2	DDX27	20	47850144	Missense_Mutation	SNP	C	TCGA-J4-A6G1-01A-11D-A30X-08		47850144	15175376	20	12685											
IFT27	11020	broad.mit.edu	37	chr22	37163883	37163883	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcggaagatctgtgccagggCggtcttgcccactgctgggt	5	9	16	11	2	2	1	0	0	2	1	2	2	2	2	2	4	3	1	2	4	1	1			TCGA-J4-A6G1-01A-11D-A30X-08	TCGA-J4-A6G1-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2f45990-6e87-46f9-893c-8db4e8eec983	42a1f7a6-b577-4000-9a4f-c6cd38462317	g.chr22:37163883C>T	ENST00000433985.2	-	2	478	c.58G>A	c.(58-60)Gcc>Acc	p.A20T	IFT27_ENST00000340630.5_Missense_Mutation_p.A19T|IFT27_ENST00000453009.2_5'UTR	NM_001177701.2	NP_001171172.1	Q9BW83	IFT27_HUMAN	intraflagellar transport 27	20					small GTPase mediated signal transduction (GO:0007264)	centrosome (GO:0005813)|intraciliary transport particle B (GO:0030992)|motile cilium (GO:0031514)|sperm midpiece (GO:0097225)|sperm principal piece (GO:0097228)	GTP binding (GO:0005525)			endometrium(3)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	7						TGTGCCAGGGCGGTCTTGCCC	0.512																																						ENST00000340630.5																			0				endometrium(3)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	7						c.(55-57)Gcc>Acc		intraflagellar transport 27 homolog (Chlamydomonas)							210	198	202					22																	37163883		2203	4300	6503	SO:0001583	missense	11020				small GTPase mediated signal transduction	intraflagellar transport particle B|microtubule-based flagellum	GTP binding	g.chr22:37163883C>T	Z80897	CCDS13932.1, CCDS54523.1	22q13.1	2014-07-03	2014-07-03	2010-04-22	ENSG00000100360	ENSG00000100360		"Intraflagellar transport homologs", "RAB, member RAS oncogene"	18626	protein-coding gene	gene with protein product		615870	"RAB, member of RAS oncogene family-like 4", "intraflagellar transport 27 homolog (Chlamydomonas)"	RABL4		12529303, 17276912	Standard	NM_001177701		Approved	RAYL, BBS19	uc003apv.3	Q9BW83	OTTHUMG00000150544	ENST00000433985.2:c.58G>A	22.37:g.37163883C>T	ENSP00000393541:p.Ala20Thr					IFT27_ENST00000433985.2_Missense_Mutation_p.A20T|IFT27_ENST00000453009.2_5'UTR	p.A19T	NM_006860.4	NP_006851.1	Q9BW83	IFT27_HUMAN			2	500	-			20					O60897	Missense_Mutation	SNP	ENST00000433985.2	37	c.55G>A	CCDS54523.1	.	.	.	.	.	.	.	.	.	.	C	13.42	2.231071	0.39399	.	.	ENSG00000100360	ENST00000340630;ENST00000433985;ENST00000417951;ENST00000430701	T;T;T;T	0.75260	-0.92;-0.92;-0.92;-0.92	4.5	3.46	0.39613	Small GTP-binding protein domain (1);	0.209151	0.41294	D	0.000903	T	0.76111	0.3942	L	0.49126	1.545	0.80722	D	1	D;P;P;P	0.69078	0.997;0.899;0.954;0.835	P;B;B;B	0.57960	0.83;0.236;0.313;0.416	T	0.75897	-0.3155	10	0.49607	T	0.09	.	8.4676	0.32966	0.0:0.8151:0.0:0.1849	.	59;19;20;19	F5GZ09;B1AH58;Q9BW83;Q9BW83-2	.;.;IFT27_HUMAN;.	T	19;20;59;19	ENSP00000343593:A19T;ENSP00000393541:A20T;ENSP00000392016:A59T;ENSP00000390016:A19T	ENSP00000343593:A19T	A	-	1	0	IFT27	35493829	0.763000	0.28462	0.921000	0.36526	0.487000	0.33371	1.307000	0.33516	2.060000	0.61445	0.561000	0.74099	GCC		0.512	IFT27-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_006860		13	218	0	0	0	1	0	13	218					T	37163883	C	T	37163883	3	4	273	1	0	0	0	0	1	0	0	0	7559	768	27	1	526	1	IFT27	22	37163883	Missense_Mutation	SNP	C	TCGA-J4-A6G1-01A-11D-A30X-08		37163883	14140683	21	12686											
GTSE1	51512	broad.mit.edu	37	chr22	46724668	46724668	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggggttctcctccttcccGtgtgcctcaggcacttaact	5	12	9	15	1	2	0	1	0	1	0	5	0	4	0	4	3	2	2	4	3	1	3			TCGA-J4-A6G1-01A-11D-A30X-08	TCGA-J4-A6G1-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2f45990-6e87-46f9-893c-8db4e8eec983	42a1f7a6-b577-4000-9a4f-c6cd38462317	g.chr22:46724668G>A	ENST00000454366.1	+	10	2020	c.1808G>A	c.(1807-1809)cGt>cAt	p.R603H		NM_016426.6	NP_057510	Q9NYZ3	GTSE1_HUMAN	G-2 and S-phase expressed 1	584					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|microtubule-based process (GO:0007017)	cytoplasmic microtubule (GO:0005881)|membrane (GO:0016020)				NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	27		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00462)		CCTCCTTCCCGTGTGCCTCAG	0.517																																					GBM(153;542 1915 12487 29016 50495)	ENST00000454366.1																			0				NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	27						c.(1807-1809)cGt>cAt		G-2 and S-phase expressed 1							109	110	110					22																	46724668		2203	4300	6503	SO:0001583	missense	51512				DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G2 phase of mitotic cell cycle|microtubule-based process	cytoplasmic microtubule		g.chr22:46724668G>A	AF223408	CCDS14074.2	22q13.2-q13.3	2008-06-10			ENSG00000075218	ENSG00000075218			13698	protein-coding gene	gene with protein product		607477				10974554, 10984615, 12750368	Standard	NM_016426		Approved	GTSE-1, B99	uc011aqy.2	Q9NYZ3	OTTHUMG00000150486	ENST00000454366.1:c.1808G>A	22.37:g.46724668G>A	ENSP00000415430:p.Arg603His						p.R603H	NM_016426.6	NP_057510.4	Q9NYZ3	GTSE1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.00462)	10	2020	+		Ovarian(80;0.00965)|all_neural(38;0.0416)	584					B0QYM3|Q20WK2|Q53GX5|Q5R3I6|Q6DHX4|Q9BRE0|Q9UGZ9|Q9Y557	Missense_Mutation	SNP	ENST00000454366.1	37	c.1808G>A	CCDS14074.2	.	.	.	.	.	.	.	.	.	.	G	12.34	1.908538	0.33721	.	.	ENSG00000075218	ENST00000454366;ENST00000361934	T	0.06528	3.29	4.41	-1.34	0.09143	.	1.691540	0.03064	N	0.156245	T	0.02970	0.0088	N	0.08118	0	0.09310	N	1	P;P	0.39782	0.688;0.688	B;B	0.34722	0.188;0.188	T	0.20338	-1.0278	10	0.51188	T	0.08	1.0979	0.697	0.00900	0.1577:0.3315:0.1988:0.312	.	584;563	Q9NYZ3;B4DZT6	GTSE1_HUMAN;.	H	603;563	ENSP00000415430:R603H	ENSP00000354634:R563H	R	+	2	0	GTSE1	45103332	0.000000	0.05858	0.022000	0.16811	0.124000	0.20399	-0.427000	0.06999	-0.040000	0.13580	-0.825000	0.03093	CGT		0.517	GTSE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318360.2	NM_016426		4	111	0	0	0	1	0	4	111					A	46724668	G	A	46724668	3	1	273	1	0	0	0	0	1	0	0	0	6885	1145	40	1	1842	1	GTSE1	22	46724668	Missense_Mutation	SNP	G	TCGA-J4-A6G1-01A-11D-A30X-08	9560785	46724668	4579898	22	12687											
MTOR	2475	broad.mit.edu	37	chr1	11169351	11169351	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacatgacacactcaccagtGagcttatctcgaaccctgtt	11	10	6	14	1	2	2	1	2	1	0	3	3	2	2	2	0	2	2	2	0	2	2			TCGA-J4-A6G3-01A-11D-A30X-08	TCGA-J4-A6G3-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68b542b2-f763-47c4-9df4-3f92060c8495	5f191346-ea91-4227-861e-18f4cd4ecc5f	g.chr1:11169351G>T	ENST00000361445.4	-	56	7600	c.7524C>A	c.(7522-7524)ctC>ctA	p.L2508L	MTOR_ENST00000376838.1_Silent_p.L713L	NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN	mechanistic target of rapamycin (serine/threonine kinase)	2508	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.				cell growth (GO:0016049)|cellular response to hypoxia (GO:0071456)|cellular response to nutrient levels (GO:0031669)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|germ cell development (GO:0007281)|growth (GO:0040007)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|negative regulation of autophagy (GO:0010507)|negative regulation of cell size (GO:0045792)|negative regulation of macroautophagy (GO:0016242)|negative regulation of NFAT protein import into nucleus (GO:0051534)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|phosphatidylinositol-mediated signaling (GO:0048015)|phosphorylation (GO:0016310)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of gene expression (GO:0010628)|positive regulation of lamellipodium assembly (GO:0010592)|positive regulation of lipid biosynthetic process (GO:0046889)|positive regulation of myotube differentiation (GO:0010831)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein catabolic process (GO:0030163)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of carbohydrate utilization (GO:0043610)|regulation of fatty acid beta-oxidation (GO:0031998)|regulation of glycogen biosynthetic process (GO:0005979)|regulation of protein kinase activity (GO:0045859)|regulation of Rac GTPase activity (GO:0032314)|regulation of response to food (GO:0032095)|response to amino acid (GO:0043200)|response to nutrient (GO:0007584)|response to stress (GO:0006950)|ruffle organization (GO:0031529)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endomembrane system (GO:0012505)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|phosphatidylinositol 3-kinase complex (GO:0005942)|PML body (GO:0016605)|TORC1 complex (GO:0031931)|TORC2 complex (GO:0031932)	ATP binding (GO:0005524)|drug binding (GO:0008144)|kinase activity (GO:0016301)|phosphoprotein binding (GO:0051219)|protein serine/threonine kinase activity (GO:0004674)|ribosome binding (GO:0043022)|RNA polymerase III type 1 promoter DNA binding (GO:0001030)|RNA polymerase III type 2 promoter DNA binding (GO:0001031)|RNA polymerase III type 3 promoter DNA binding (GO:0001032)|TFIIIC-class transcription factor binding (GO:0001156)			breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149					Everolimus(DB01590)|Pimecrolimus(DB00337)|Sirolimus(DB00877)|Temsirolimus(DB06287)	ACTCACCAGTGAGCTTATCTC	0.428																																						ENST00000361445.4																			0				breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149						c.(7522-7524)ctC>ctA		mechanistic target of rapamycin (serine/threonine kinase)							174	152	159					1																	11169351		2203	4300	6503	SO:0001819	synonymous_variant	2475				cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient|T cell costimulation|TOR signaling cascade	endoplasmic reticulum membrane|Golgi membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex|PML body|TORC1 complex|TORC2 complex	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity	g.chr1:11169351G>T	L34075	CCDS127.1	1p36	2014-09-17	2009-05-29	2009-05-29	ENSG00000198793	ENSG00000198793			3942	protein-coding gene	gene with protein product	"FK506 binding protein 12-rapamycin associated protein 2", "rapamycin target protein", "FKBP12-rapamycin complex-associated protein 1", "FKBP-rapamycin associated protein", "rapamycin associated protein FRAP2", "dJ576K7.1 (FK506 binding protein 12-rapamycin associated protein 1)", "rapamycin and FKBP12 target 1", "mammalian target of rapamycin"	601231	"FK506 binding protein 12-rapamycin associated protein 1"	FRAP, FRAP2, FRAP1		8008069, 8660990	Standard	NM_004958		Approved	RAFT1, RAPT1, FLJ44809	uc001asd.3	P42345	OTTHUMG00000002001	ENST00000361445.4:c.7524C>A	1.37:g.11169351G>T						MTOR_ENST00000376838.1_Silent_p.L713L	p.L2508L	NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN			56	7600	-			2508			PI3K/PI4K.		Q4LE76|Q5TER1|Q6LE87|Q96QG3|Q9Y4I3	Silent	SNP	ENST00000361445.4	37	c.7524C>A	CCDS127.1																																																																																				0.428	MTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005558.1	NM_004958		4	87	1	0	0.150653	1	0.154001	4	87					T	11169351	G	T	11169351	2	4	274	1	0	0	0	0	0	0	0	1	9954	1277	45	5		5	MTOR	1	11169351	Silent	SNP	G	TCGA-J4-A6G3-01A-11D-A30X-08		11169351	238081270	1	12688											
THRAP3	9967	broad.mit.edu	37	chr1	36748270	36748273	+	Frame_Shift_Del	DEL	TCTC	TCTC	-																															agtctcggtcccgaagccgaTctctctctcgttcaaggaag																										TCGA-J4-A6G3-01A-11D-A30X-08	TCGA-J4-A6G3-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68b542b2-f763-47c4-9df4-3f92060c8495	5f191346-ea91-4227-861e-18f4cd4ecc5f	g.chr1:36748270_36748273delTCTC	ENST00000354618.5	+	3	330_333	c.106_109delTCTC	c.(106-111)tctctcfs	p.SL36fs	THRAP3_ENST00000469141.2_Frame_Shift_Del_p.SL36fs	NM_005119.3	NP_005110.2	Q9Y2W1	TR150_HUMAN	thyroid hormone receptor associated protein 3	36	Arg-rich.|Required for mRNA splicing activation.|Ser-rich.				androgen receptor signaling pathway (GO:0030521)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|mRNA processing (GO:0006397)|mRNA stabilization (GO:0048255)|nuclear-transcribed mRNA catabolic process (GO:0000956)|positive regulation of mRNA splicing, via spliceosome (GO:0048026)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing (GO:0008380)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|phosphoprotein binding (GO:0051219)|poly(A) RNA binding (GO:0044822)|receptor activity (GO:0004872)|RNA polymerase II transcription cofactor activity (GO:0001104)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(5)|stomach(1)	37		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				CCGAAGCCGATCTCTCTCTCGTTC	0.446			T	USP6	aneurysmal bone cysts																																Pancreas(129;785 1795 20938 23278 32581)	ENST00000354618.5				Dom	yes		1	1p34.3	9967	T	thyroid hormone receptor associated protein 3 (TRAP150)			M	USP6		aneurysmal bone cysts		0				breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(5)|stomach(1)	37						c.(106-111)tcfs		thyroid hormone receptor associated protein 3																																				SO:0001589	frameshift_variant	9967				androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ATP binding|ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	g.chr1:36748270_36748273delTCTC	AF117756	CCDS405.1	1p34.3	2008-02-05			ENSG00000054118	ENSG00000054118			22964	protein-coding gene	gene with protein product		603809					Standard	NM_005119		Approved	TRAP150	uc001cae.4	Q9Y2W1	OTTHUMG00000007866	ENST00000354618.5:c.106_109delTCTC	1.37:g.36748274_36748277delTCTC	ENSP00000346634:p.Ser36fs					THRAP3_ENST00000469141.2_Frame_Shift_Del_p.SL36fs	p.SL36fs	NM_005119.3	NP_005110.2	Q9Y2W1	TR150_HUMAN			3	330_333	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)	36			Arg-rich.|Ser-rich.		D3DPS5|Q5VTK6	Frame_Shift_Del	DEL	ENST00000354618.5	37	c.106_109delTCTC	CCDS405.1																																																																																				0.446	THRAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021688.2	NM_005119		9	64						9	64	---	---	---	---	-	36748273	TCTC	-	36748270	7	5	274	1	0	1	0	1	0	0	0	0	15871	1435	50	0	108	0	THRAP3	1	36748270	Frame_Shift_Del	DEL	TCTC	TCGA-J4-A6G3-01A-11D-A30X-08	25578919	36748270	212502351	2	12689											
LRRIQ3	127255	broad.mit.edu	37	chr1	74507071	74507071	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttaagttttgaactaataaaCgctctgaagccttttgggat	12	15	8	6	1	1	2	0	2	1	0	1	3	1	3	1	1	3	2	1	1	6	7	rs534493116	byFrequency	TCGA-J4-A6G3-01A-11D-A30X-08	TCGA-J4-A6G3-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68b542b2-f763-47c4-9df4-3f92060c8495	5f191346-ea91-4227-861e-18f4cd4ecc5f	g.chr1:74507071C>T	ENST00000395089.1	-	6	1543	c.1544G>A	c.(1543-1545)cGt>cAt	p.R515H	LRRIQ3_ENST00000354431.4_Missense_Mutation_p.R515H			A6PVS8	LRIQ3_HUMAN	leucine-rich repeats and IQ motif containing 3	515								p.R515H(1)		NS(2)|breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(13)|liver(1)|lung(27)|ovary(3)|prostate(1)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(5)	73						AACTAATAAACGCTCTGAAGC	0.363													C|||	2	0.000399361	0	0.0029	5008	,	,		15266	0		0	False		,,,				2504	0					ENST00000354431.4																			1	Substitution - Missense(1)	p.R515H(1)	large_intestine(1)	NS(2)|breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(13)|liver(1)|lung(27)|ovary(3)|prostate(1)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(5)	73						c.(1543-1545)cGt>cAt		leucine-rich repeats and IQ motif containing 3							102	100	101					1																	74507071		1797	4070	5867	SO:0001583	missense	127255							g.chr1:74507071C>T	BX647210	CCDS41350.1	1p31.1	2008-06-12	2008-06-12	2008-06-12	ENSG00000162620	ENSG00000162620			28318	protein-coding gene	gene with protein product			"leucine rich repeat containing 44"	LRRC44		12477932	Standard	NM_001105659		Approved	MGC22773	uc001dfy.4	A6PVS8	OTTHUMG00000009508	ENST00000395089.1:c.1544G>A	1.37:g.74507071C>T	ENSP00000378524:p.Arg515His					LRRIQ3_ENST00000395089.1_Missense_Mutation_p.R515H	p.R515H	NM_001105659.1	NP_001099129.1	A6PVS8	LRIQ3_HUMAN			7	1735	-			515					A6PVS9|Q6P5P7|Q6ZMV4|Q8WUE0	Missense_Mutation	SNP	ENST00000395089.1	37	c.1544G>A	CCDS41350.1	.	.	.	.	.	.	.	.	.	.	C	6.084	0.383714	0.11524	.	.	ENSG00000162620	ENST00000395089;ENST00000354431	T;T	0.10382	2.88;2.88	5.86	2.52	0.30459	.	.	.	.	.	T	0.02047	0.0064	L	0.29908	0.895	0.09310	N	1	B	0.34255	0.445	B	0.20184	0.028	T	0.44452	-0.9327	9	0.35671	T	0.21	.	8.4238	0.32716	0.0:0.7631:0.0:0.2369	.	515	A6PVS8	LRIQ3_HUMAN	H	515	ENSP00000378524:R515H;ENSP00000346414:R515H	ENSP00000346414:R515H	R	-	2	0	LRRIQ3	74279659	0.273000	0.24181	0.016000	0.15963	0.029000	0.11900	0.609000	0.24238	0.295000	0.22570	0.650000	0.86243	CGT		0.363	LRRIQ3-008	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316539.1	NM_145258		5	82	0	0	0	1	0	5	82					T	74507071	C	T	74507071	3	4	274	1	0	0	0	0	1	0	0	0	9030	536	19	1	338	1	LRRIQ3	1	74507071	Missense_Mutation	SNP	C	TCGA-J4-A6G3-01A-11D-A30X-08	37758801	74507071	174743550	3	12690											
SSX2IP	117178	broad.mit.edu	37	chr1	85127952	85127952	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aagaagagaaatcatttcctTtttcatttgttgaagaacct	14	15	6	6	0	2	4	2	1	0	3	3	5	3	4	2	0	1	1	2	0	5	5			TCGA-J4-A6G3-01A-11D-A30X-08	TCGA-J4-A6G3-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68b542b2-f763-47c4-9df4-3f92060c8495	5f191346-ea91-4227-861e-18f4cd4ecc5f	g.chr1:85127952T>C	ENST00000342203.3	-	8	1119	c.856A>G	c.(856-858)Aag>Gag	p.K286E	SSX2IP_ENST00000603677.1_Intron|SSX2IP_ENST00000605755.1_Missense_Mutation_p.K259E|SSX2IP_ENST00000437941.2_Missense_Mutation_p.K259E|SSX2IP_ENST00000370612.4_Missense_Mutation_p.K286E	NM_001166293.1|NM_001166294.1|NM_014021.3	NP_001159765.1|NP_001159766.1|NP_054740.3	Q9Y2D8	ADIP_HUMAN	synovial sarcoma, X breakpoint 2 interacting protein	286					cell adhesion (GO:0007155)|centrosome organization (GO:0051297)|regulation of cell motility (GO:2000145)|regulation of Rac protein signal transduction (GO:0035020)	cell leading edge (GO:0031252)|cell-cell adherens junction (GO:0005913)|centriolar satellite (GO:0034451)|nucleus (GO:0005634)|protein complex (GO:0043234)				endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|urinary_tract(1)	19				all cancers(265;0.0053)|Epithelial(280;0.0214)|OV - Ovarian serous cystadenocarcinoma(397;0.173)		ATCATTTCCTTTTTCATTTGT	0.328																																						ENST00000437941.2																			0				endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|urinary_tract(1)	19						c.(775-777)Aag>Gag		synovial sarcoma, X breakpoint 2 interacting protein							157	175	169					1																	85127952		2203	4300	6503	SO:0001583	missense	117178				cell adhesion	nucleus|protein complex		g.chr1:85127952T>C		CCDS699.1, CCDS53337.1	1p22.3	2008-02-05			ENSG00000117155	ENSG00000117155			16509	protein-coding gene	gene with protein product		608690					Standard	NM_014021		Approved		uc001dkj.3	Q9Y2D8	OTTHUMG00000009926	ENST00000342203.3:c.856A>G	1.37:g.85127952T>C	ENSP00000340279:p.Lys286Glu					SSX2IP_ENST00000370612.4_Missense_Mutation_p.K286E|SSX2IP_ENST00000342203.3_Missense_Mutation_p.K286E|SSX2IP_ENST00000605755.1_Missense_Mutation_p.K259E|SSX2IP_ENST00000603677.1_Intron	p.K259E	NM_001166295.1|NM_001166417.1	NP_001159767.1|NP_001159889.1	Q9Y2D8	ADIP_HUMAN		all cancers(265;0.0053)|Epithelial(280;0.0214)|OV - Ovarian serous cystadenocarcinoma(397;0.173)	7	1127	-			286					A8K8W0|B4DFE3|D3DT13|J3KR02|Q6P2P8|Q6ULS1|Q7L168|Q9UIX0	Missense_Mutation	SNP	ENST00000342203.3	37	c.775A>G	CCDS699.1	.	.	.	.	.	.	.	.	.	.	T	16.68	3.190426	0.58017	.	.	ENSG00000117155	ENST00000342203;ENST00000437941;ENST00000544699;ENST00000370612	T;T	0.48522	0.81;0.81	5.48	5.48	0.80851	.	0.178498	0.64402	D	0.000019	T	0.40694	0.1127	M	0.65975	2.015	0.36455	D	0.866333	P;P;P	0.40619	0.724;0.604;0.604	B;B;B	0.41988	0.372;0.205;0.205	T	0.52533	-0.8563	10	0.66056	D	0.02	-0.6298	15.5628	0.76262	0.0:0.0:0.0:1.0	.	282;286;259	F5H549;Q9Y2D8;B4DFE3	.;ADIP_HUMAN;.	E	286;259;282;286	ENSP00000340279:K286E;ENSP00000412781:K259E	ENSP00000340279:K286E	K	-	1	0	SSX2IP	84900540	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.750000	0.62162	2.096000	0.63516	0.482000	0.46254	AAG		0.328	SSX2IP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027469.1	NM_014021		4	88	0	0	0	1	0	4	88					C	85127952	T	C	85127952	3	2	274	1	0	0	0	0	1	0	0	0	15203	1850	64	4	1016	4	SSX2IP	1	85127952	Missense_Mutation	SNP	T	TCGA-J4-A6G3-01A-11D-A30X-08	10620881	85127952	164122669	4	12691											
PRSS38	339501	broad.mit.edu	37	chr1	228003856	228003856	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctgcgcccgagaggaagtggCcgtggcaggtcagcgtgcac	7	5	17	12	4	1	1	1	0	0	1	1	3	1	2	2	4	3	2	2	4	1	0			TCGA-J4-A6G3-01A-11D-A30X-08	TCGA-J4-A6G3-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68b542b2-f763-47c4-9df4-3f92060c8495	5f191346-ea91-4227-861e-18f4cd4ecc5f	g.chr1:228003856C>T	ENST00000366757.3	+	2	238	c.214C>T	c.(214-216)Ccg>Tcg	p.P72S		NM_183062.2	NP_898885.1	A1L453	PRS38_HUMAN	protease, serine, 38	72	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						GAGGAAGTGGCCGTGGCAGGT	0.652																																						ENST00000366757.3																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						c.(214-216)Ccg>Tcg		protease, serine, 38							68	76	73					1																	228003856		2203	4299	6502	SO:0001583	missense	339501				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr1:228003856C>T		CCDS1563.1	1q42.13	2010-05-07			ENSG00000185888	ENSG00000185888		"Serine peptidases / Serine peptidases"	29625	protein-coding gene	gene with protein product	"marapsin 2"					12838346	Standard	NM_183062		Approved	MPN2	uc001hrh.3	A1L453	OTTHUMG00000037701	ENST00000366757.3:c.214C>T	1.37:g.228003856C>T	ENSP00000355719:p.Pro72Ser						p.P72S	NM_183062.2	NP_898885.1	A1L453	PRS38_HUMAN			2	238	+			72			Peptidase S1.		Q7RTY6	Missense_Mutation	SNP	ENST00000366757.3	37	c.214C>T	CCDS1563.1	.	.	.	.	.	.	.	.	.	.	C	17.06	3.293713	0.60086	.	.	ENSG00000185888	ENST00000366757	D	0.85484	-1.99	4.13	4.13	0.48395	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.41001	D	0.000965	D	0.94039	0.8090	H	0.94503	3.545	0.54753	D	0.99998	D	0.89917	1.0	D	0.97110	1.0	D	0.95440	0.8524	10	0.87932	D	0	.	13.9194	0.63921	0.0:1.0:0.0:0.0	.	72	A1L453	PRS38_HUMAN	S	72	ENSP00000355719:P72S	ENSP00000355719:P72S	P	+	1	0	PRSS38	226070479	1.000000	0.71417	0.993000	0.49108	0.244000	0.25665	4.256000	0.58810	2.140000	0.66376	0.467000	0.42956	CCG		0.652	PRSS38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091981.1	NM_183062		4	130	0	0	0	1	0	4	130					T	228003856	C	T	228003856	3	4	274	1	0	0	0	0	1	0	0	0	12627	739	26	3	220	3	PRSS38	1	228003856	Missense_Mutation	SNP	C	TCGA-J4-A6G3-01A-11D-A30X-08	142875904	228003856	21246765	5	12692											
FGD5	152273	broad.mit.edu	37	chr3	14861542	14861542	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atgcacaggatgagtccgccGaggagagctgccagattgtc	10	7	14	10	2	0	3	0	1	0	2	2	6	1	4	3	2	3	2	3	2	0	1			TCGA-J4-A6G3-01A-11D-A30X-08	TCGA-J4-A6G3-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68b542b2-f763-47c4-9df4-3f92060c8495	5f191346-ea91-4227-861e-18f4cd4ecc5f	g.chr3:14861542G>A	ENST00000285046.5	+	1	1074	c.964G>A	c.(964-966)Gag>Aag	p.E322K	FGD5_ENST00000543601.1_Missense_Mutation_p.E81K	NM_152536.3	NP_689749.3	Q6ZNL6	FGD5_HUMAN	FYVE, RhoGEF and PH domain containing 5	322	Glu-rich.				actin cytoskeleton organization (GO:0030036)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|small GTPase binding (GO:0031267)			NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1)	54						TGAGTCCGCCGAGGAGAGCTG	0.552																																						ENST00000285046.5																			0				NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1)	54						c.(964-966)Gag>Aag		FYVE, RhoGEF and PH domain containing 5							71	76	74					3																	14861542		2004	4182	6186	SO:0001583	missense	152273				actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding	g.chr3:14861542G>A	AK097276	CCDS46767.1	3p25.1	2013-01-10			ENSG00000154783	ENSG00000154783		"Zinc fingers, FYVE domain containing", "Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	19117	protein-coding gene	gene with protein product		614788					Standard	NM_152536		Approved	ZFYVE23, FLJ39957, FLJ00274	uc003bzc.3	Q6ZNL6	OTTHUMG00000155556	ENST00000285046.5:c.964G>A	3.37:g.14861542G>A	ENSP00000285046:p.Glu322Lys					FGD5_ENST00000543601.1_Missense_Mutation_p.E81K	p.E322K	NM_152536.3	NP_689749.3	Q6ZNL6	FGD5_HUMAN			1	1074	+			322			Glu-rich.		B3KVQ3|Q6MZY1|Q7Z303|Q8IYP3|Q8N861|Q8N8G4	Missense_Mutation	SNP	ENST00000285046.5	37	c.964G>A	CCDS46767.1	.	.	.	.	.	.	.	.	.	.	G	17.03	3.284211	0.59867	.	.	ENSG00000154783	ENST00000285046;ENST00000543601	T;T	0.78003	-1.14;-1.02	5.34	5.34	0.76211	.	0.212230	0.32624	N	0.005845	T	0.74951	0.3784	L	0.29908	0.895	0.35240	D	0.777746	D;D	0.62365	0.991;0.991	P;P	0.50617	0.646;0.646	T	0.82673	-0.0341	10	0.62326	D	0.03	-32.7299	14.3506	0.66699	0.0729:0.0:0.9271:0.0	.	81;322	B7ZM68;Q6ZNL6	.;FGD5_HUMAN	K	322;81	ENSP00000285046:E322K;ENSP00000445949:E81K	ENSP00000285046:E322K	E	+	1	0	FGD5	14836546	1.000000	0.71417	0.986000	0.45419	0.046000	0.14306	5.319000	0.65835	2.492000	0.84095	0.655000	0.94253	GAG		0.552	FGD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340628.1	NM_152536		4	61	0	0	0	1	0	4	61					A	14861542	G	A	14861542	3	1	274	1	0	0	0	0	1	0	0	0	5836	1059	37	2	966	2	FGD5	3	14861542	Missense_Mutation	SNP	G	TCGA-J4-A6G3-01A-11D-A30X-08		14861542	183160888	6	12693											
CLASP2	23122	broad.mit.edu	37	chr3	33552238	33552238	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ggccaacactgatgccgcttCctcagcagatctcaccacct	9	8	7	17	1	2	2	2	1	1	1	4	2	3	2	5	1	3	2	5	1	1	1			TCGA-J4-A6G3-01A-11D-A30X-08	TCGA-J4-A6G3-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68b542b2-f763-47c4-9df4-3f92060c8495	5f191346-ea91-4227-861e-18f4cd4ecc5f	g.chr3:33552238C>T	ENST00000468888.2	-	37	4199	c.4153G>A	c.(4153-4155)Gaa>Aaa	p.E1385K	CLASP2_ENST00000539981.1_3'UTR|CLASP2_ENST00000307312.7_Missense_Mutation_p.E866K|CLASP2_ENST00000480013.1_Missense_Mutation_p.E1164K|CLASP2_ENST00000359576.5_Missense_Mutation_p.E1376K|CLASP2_ENST00000461133.3_Missense_Mutation_p.E1144K|CLASP2_ENST00000399362.4_Missense_Mutation_p.E1384K			O75122	CLAP2_HUMAN	cytoplasmic linker associated protein 2	1165					axon guidance (GO:0007411)|establishment or maintenance of cell polarity (GO:0007163)|fucosylation (GO:0036065)|microtubule anchoring (GO:0034453)|microtubule nucleation (GO:0007020)|microtubule organizing center organization (GO:0031023)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of microtubule depolymerization (GO:0007026)|regulation of microtubule polymerization or depolymerization (GO:0031110)|regulation of microtubule-based process (GO:0032886)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|kinetochore (GO:0000776)|kinetochore microtubule (GO:0005828)|membrane (GO:0016020)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|trans-Golgi network (GO:0005802)	galactoside 2-alpha-L-fucosyltransferase activity (GO:0008107)|microtubule plus-end binding (GO:0051010)			breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	48						GATGCCGCTTCCTCAGCAGAT	0.383																																						ENST00000399362.4																			0				breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	48						c.(4150-4152)Gaa>Aaa		cytoplasmic linker associated protein 2							64	54	57					3																	33552238		1931	4132	6063	SO:0001583	missense	23122							g.chr3:33552238C>T	AB014527		3p24.3	2013-01-18			ENSG00000163539	ENSG00000163539			17078	protein-coding gene	gene with protein product		605853				9734811, 10899121	Standard	NM_015097		Approved	KIAA0627	uc021wvc.1	O75122	OTTHUMG00000156489	ENST00000468888.2:c.4153G>A	3.37:g.33552238C>T	ENSP00000419974:p.Glu1385Lys					CLASP2_ENST00000359576.5_Missense_Mutation_p.E1376K|CLASP2_ENST00000307312.7_Missense_Mutation_p.E866K|CLASP2_ENST00000539981.1_3'UTR|CLASP2_ENST00000480013.1_Missense_Mutation_p.E1164K|CLASP2_ENST00000468888.2_Missense_Mutation_p.E1385K|CLASP2_ENST00000461133.3_Missense_Mutation_p.E1144K	p.E1384K	NM_015097.2	NP_055912.2	B2RTR1	B2RTR1_HUMAN			37	4503	-			1386					Q7L8F6|Q8N6R6|Q9BQT3|Q9BQT4|Q9H7A3|Q9NSZ2	Missense_Mutation	SNP	ENST00000468888.2	37	c.4150G>A		.	.	.	.	.	.	.	.	.	.	C	35	5.413111	0.96072	.	.	ENSG00000163539	ENST00000468888;ENST00000399362;ENST00000359576;ENST00000307312;ENST00000480013;ENST00000461133	T;T;T;T;T;T	0.66280	-0.2;-0.2;-0.2;-0.2;-0.2;-0.2	6.08	6.08	0.98989	.	0.047128	0.85682	D	0.000000	T	0.78685	0.4322	M	0.70903	2.155	0.80722	D	1	P;D	0.89917	0.882;1.0	P;D	0.91635	0.6;0.999	T	0.70802	-0.4773	10	0.18276	T	0.48	-24.7863	20.6634	0.99662	0.0:1.0:0.0:0.0	.	1376;1384	F5H604;E7ERI8	.;.	K	1385;1384;1376;866;1164;1144	ENSP00000419974:E1385K;ENSP00000382297:E1384K;ENSP00000352581:E1376K;ENSP00000304743:E866K;ENSP00000417518:E1164K;ENSP00000419305:E1144K	ENSP00000304743:E866K	E	-	1	0	CLASP2	33527242	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.506000	0.81665	2.894000	0.99253	0.655000	0.94253	GAA		0.383	CLASP2-001	NOVEL	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000344320.4	NM_001207044		3	17	0	0	0	1	0	3	17					T	33552238	C	T	33552238	3	4	274	1	0	0	0	0	1	0	0	0	3455	864	30	3	403	3	CLASP2	3	33552238	Missense_Mutation	SNP	C	TCGA-J4-A6G3-01A-11D-A30X-08	18690696	33552238	164470192	7	12694											
IQCG	84223	broad.mit.edu	37	chr3	197665464	197665464	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctccgtagtcatgatggtcTgccttgtaggttttttgaag	6	17	11	7	1	3	2	1	2	2	0	4	2	3	2	2	2	1	3	2	2	3	6			TCGA-J4-A6G3-01A-11D-A30X-08	TCGA-J4-A6G3-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68b542b2-f763-47c4-9df4-3f92060c8495	5f191346-ea91-4227-861e-18f4cd4ecc5f	g.chr3:197665464T>A	ENST00000265239.6	-	5	894	c.470A>T	c.(469-471)cAg>cTg	p.Q157L	IQCG_ENST00000455191.1_Missense_Mutation_p.Q157L|IQCG_ENST00000453254.1_Missense_Mutation_p.Q157L|IQCG_ENST00000480302.1_5'Flank	NM_032263.3	NP_115639.1	Q9H095	IQCG_HUMAN	IQ motif containing G	157						extracellular vesicular exosome (GO:0070062)				autonomic_ganglia(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(3)|lung(10)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;7.19e-24)|all cancers(36;3.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.149)		CATGATGGTCTGCCTTGTAGG	0.428																																						ENST00000265239.6																			0				autonomic_ganglia(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(3)|lung(10)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(469-471)cAg>cTg		IQ motif containing G							266	256	260					3																	197665464		2203	4300	6503	SO:0001583	missense	84223							g.chr3:197665464T>A	AL136889	CCDS3331.1	3q29	2014-07-18			ENSG00000114473	ENSG00000114473			25251	protein-coding gene	gene with protein product	"dynein regulatory complex subunit 9"	612477				11230166, 23427265, 24362311	Standard	NM_032263		Approved	DKFZp434B227, DRC9, CFAP122	uc003fyo.3	Q9H095	OTTHUMG00000155408	ENST00000265239.6:c.470A>T	3.37:g.197665464T>A	ENSP00000265239:p.Gln157Leu					IQCG_ENST00000455191.1_Missense_Mutation_p.Q157L|IQCG_ENST00000453254.1_Missense_Mutation_p.Q157L	p.Q157L	NM_032263.3	NP_115639.1	Q9H095	IQCG_HUMAN	Epithelial(36;7.19e-24)|all cancers(36;3.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.149)	5	894	-	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)		157					Q9BST2|Q9HAG8	Missense_Mutation	SNP	ENST00000265239.6	37	c.470A>T	CCDS3331.1	.	.	.	.	.	.	.	.	.	.	T	14.55	2.569766	0.45798	.	.	ENSG00000114473	ENST00000265239;ENST00000455191;ENST00000453254;ENST00000416896	T;T;T;T	0.56776	0.68;0.68;0.95;0.44	5.5	5.5	0.81552	.	0.237398	0.36066	N	0.002807	T	0.69788	0.3150	M	0.80746	2.51	0.36109	D	0.844656	D;D	0.76494	0.999;0.969	D;P	0.69479	0.964;0.59	T	0.76977	-0.2759	10	0.41790	T	0.15	-21.269	10.0768	0.42366	0.0:0.0:0.1683:0.8317	.	157;157	C9JKX8;Q9H095	.;IQCG_HUMAN	L	157;157;157;138	ENSP00000265239:Q157L;ENSP00000407736:Q157L;ENSP00000389897:Q157L;ENSP00000406411:Q138L	ENSP00000265239:Q157L	Q	-	2	0	IQCG	199149861	0.998000	0.40836	0.441000	0.26858	0.199000	0.23934	1.640000	0.37186	2.227000	0.72691	0.456000	0.33151	CAG		0.428	IQCG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339730.1	NM_032263		17	198	0	0	0	1	0	17	198					A	197665464	T	A	197665464	3	1	274	1	0	0	0	0	1	0	0	0	7810	1580	55	5	893	5	IQCG	3	197665464	Missense_Mutation	SNP	T	TCGA-J4-A6G3-01A-11D-A30X-08	164113226	197665464	356966	8	12695											
FGA	2243	broad.mit.edu	37	chr4	155510000	155510000	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	attatattagtggtcaacgaAtgagaatccttattgttctt	12	17	7	5	1	2	1	1	1	1	1	3	3	3	1	1	1	1	1	1	1	7	7			TCGA-J4-A6G3-01A-11D-A30X-08	TCGA-J4-A6G3-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68b542b2-f763-47c4-9df4-3f92060c8495	5f191346-ea91-4227-861e-18f4cd4ecc5f	g.chr4:155510000A>G	ENST00000302053.3	-	3	387	c.309T>C	c.(307-309)caT>caC	p.H103H	FGA_ENST00000403106.3_Silent_p.H103H	NM_000508.3	NP_000499.1	P02671	FIBA_HUMAN	fibrinogen alpha chain	103					blood coagulation (GO:0007596)|blood coagulation, common pathway (GO:0072377)|cell-matrix adhesion (GO:0007160)|cellular protein complex assembly (GO:0043623)|extracellular matrix organization (GO:0030198)|negative regulation of blood coagulation, common pathway (GO:2000261)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of exocytosis (GO:0045921)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of peptide hormone secretion (GO:0090277)|positive regulation of protein secretion (GO:0050714)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive regulation of vasoconstriction (GO:0045907)|protein polymerization (GO:0051258)|response to calcium ion (GO:0051592)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|cell cortex (GO:0005938)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|plasma membrane (GO:0005886)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|vesicle (GO:0031982)	structural molecule activity (GO:0005198)			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	73	all_hematologic(180;0.215)	Renal(120;0.0458)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)	TGGTCAACGAATGAGAATCCT	0.299																																					NSCLC(143;340 1922 20892 22370 48145)	ENST00000302053.3																			0				NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	73						c.(307-309)caT>caC		fibrinogen alpha chain	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)						141	154	150					4																	155510000		2202	4299	6501	SO:0001819	synonymous_variant	2243				platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding	g.chr4:155510000A>G		CCDS3787.1, CCDS47152.1	4q28	2014-09-17			ENSG00000171560	ENSG00000171560		"Fibrinogen C domain containing", "Endogenous ligands"	3661	protein-coding gene	gene with protein product		134820	"fibrinogen, A alpha polypeptide"				Standard	NM_000508		Approved		uc003iod.1	P02671	OTTHUMG00000150330	ENST00000302053.3:c.309T>C	4.37:g.155510000A>G						FGA_ENST00000403106.3_Silent_p.H103H	p.H103H	NM_000508.3	NP_000499.1	P02671	FIBA_HUMAN			3	387	-	all_hematologic(180;0.215)	Renal(120;0.0458)	103					A8K3E4|D3DP14|D3DP15|Q4QQH7|Q9BX62|Q9UCH2	Silent	SNP	ENST00000302053.3	37	c.309T>C	CCDS3787.1																																																																																				0.299	FGA-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317593.1	NM_000508		8	100	0	0	0	1	0	8	100					G	155510000	A	G	155510000	2	3	274	1	0	0	0	0	0	0	0	1	5830	98	4	4		4	FGA	4	155510000	Silent	SNP	A	TCGA-J4-A6G3-01A-11D-A30X-08		155510000	35644276	9	12696											
SHROOM1	134549	broad.mit.edu	37	chr5	132158689	132158689	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcagggcgcaatagacgcgCagctcctccaccggtagtgc	9	5	13	14	4	0	1	0	0	0	1	2	1	2	1	3	2	3	5	3	2	3	2			TCGA-J4-A6G3-01A-11D-A30X-08	TCGA-J4-A6G3-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68b542b2-f763-47c4-9df4-3f92060c8495	5f191346-ea91-4227-861e-18f4cd4ecc5f	g.chr5:132158689C>T	ENST00000378679.3	-	10	3162	c.2358G>A	c.(2356-2358)ctG>ctA	p.L786L	SHROOM1_ENST00000378676.1_Silent_p.L717L|SHROOM1_ENST00000488072.1_5'Flank|SHROOM1_ENST00000319854.3_Silent_p.L781L	NM_001172700.1	NP_001166171.1	Q2M3G4	SHRM1_HUMAN	shroom family member 1	786	ASD2. {ECO:0000255|PROSITE- ProRule:PRU00638}.				actin filament bundle assembly (GO:0051017)|cell morphogenesis (GO:0000902)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|myosin II complex (GO:0016460)	actin filament binding (GO:0051015)			endometrium(1)|kidney(4)|large_intestine(2)|lung(4)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	17			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			AATAGACGCGCAGCTCCTCCA	0.706																																						ENST00000378679.3																			0				endometrium(1)|kidney(4)|large_intestine(2)|lung(4)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	17						c.(2356-2358)ctG>ctA		shroom family member 1							32	30	31					5																	132158689		2200	4298	6498	SO:0001819	synonymous_variant	134549				actin filament bundle assembly|cell morphogenesis	cytoplasm|microtubule	actin filament binding	g.chr5:132158689C>T	AF314142	CCDS4161.1, CCDS54902.1	5q31.1	2007-05-03			ENSG00000164403	ENSG00000164403			24084	protein-coding gene	gene with protein product		611179				11853319, 16615870	Standard	NM_133456		Approved	APXL2, KIAA1960	uc003kxy.2	Q2M3G4	OTTHUMG00000059835	ENST00000378679.3:c.2358G>A	5.37:g.132158689C>T						SHROOM1_ENST00000319854.3_Silent_p.L781L|SHROOM1_ENST00000378676.1_Silent_p.L717L	p.L786L	NM_001172700.1	NP_001166171.1	Q2M3G4	SHRM1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		10	3162	-			786			ASD2.		B7WP40|B7ZL01|Q8TDP0|Q8TF41	Silent	SNP	ENST00000378679.3	37	c.2358G>A	CCDS54902.1																																																																																				0.706	SHROOM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000133033.1	NM_133456		4	39	0	0	0	1	0	4	39					T	132158689	C	T	132158689	2	4	274	1	0	0	0	0	0	0	0	1	14293	697	25	3		3	SHROOM1	5	132158689	Silent	SNP	C	TCGA-J4-A6G3-01A-11D-A30X-08		132158689	48756571	10	12697											
ROS1	6098	broad.mit.edu	37	chr6	117662426	117662426	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttaaacatttccacagtgaCaggatgactctctgtacacc	12	11	7	11	0	1	2	0	2	1	0	3	3	2	3	2	1	2	2	2	1	3	3			TCGA-J4-A6G3-01A-11D-A30X-08	TCGA-J4-A6G3-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68b542b2-f763-47c4-9df4-3f92060c8495	5f191346-ea91-4227-861e-18f4cd4ecc5f	g.chr6:117662426C>T	ENST00000368508.3	-	30	5149	c.4951G>A	c.(4951-4953)Gtc>Atc	p.V1651I	GOPC_ENST00000467125.1_Intron|ROS1_ENST00000368507.3_Missense_Mutation_p.V1645I	NM_002944.2	NP_002935.2	P08922	ROS1_HUMAN	ROS proto-oncogene 1 , receptor tyrosine kinase	1651	Fibronectin type-III 7. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell differentiation (GO:0030154)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|columnar/cuboidal epithelial cell development (GO:0002066)|negative regulation of gene expression (GO:0010629)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein phosphorylation (GO:0006468)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of phosphate transport (GO:0010966)|regulation of TOR signaling (GO:0032006)|spermatogenesis (GO:0007283)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		TCCACAGTGACAGGATGACTC	0.408			T	"GOPC, SDC4, SLC34A2, EZR, LRIG3"	"glioblastoma, NSCLC"																																	ENST00000368508.3				Dom	yes		6	6q22	6098	T	v-ros UR2 sarcoma virus oncogene homolog 1 (avian)			"O, E"	"GOPC, SDC4, SLC34A2, EZR, LRIG3"		"glioblastoma, NSCLC"	TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	0				NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162						c.(4951-4953)Gtc>Atc		c-ros oncogene 1 , receptor tyrosine kinase							130	123	125					6																	117662426		2203	4300	6503	SO:0001583	missense	6098				transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr6:117662426C>T	M13599	CCDS5116.1	6q21-q22	2014-06-26	2014-06-26		ENSG00000047936	ENSG00000047936		"Fibronectin type III domain containing"	10261	protein-coding gene	gene with protein product		165020	"v-ros avian UR2 sarcoma virus oncogene homolog 1", "v-ros UR2 sarcoma virus oncogene homolog 1 (avian)", "c-ros oncogene 1 , receptor tyrosine kinase"			1611909	Standard	NM_002944		Approved	MCF3, ROS, c-ros-1	uc003pxp.1	P08922	OTTHUMG00000016188	ENST00000368508.3:c.4951G>A	6.37:g.117662426C>T	ENSP00000357494:p.Val1651Ile					GOPC_ENST00000467125.1_Intron|ROS1_ENST00000368507.3_Missense_Mutation_p.V1645I	p.V1651I	NM_002944.2	NP_002935.2	P08922	ROS_HUMAN		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)	30	5149	-		all_cancers(87;0.00846)|all_epithelial(87;0.0242)	1651			Fibronectin type-III 7.		Q15368|Q5TDB5	Missense_Mutation	SNP	ENST00000368508.3	37	c.4951G>A	CCDS5116.1	.	.	.	.	.	.	.	.	.	.	C	17.68	3.448983	0.63178	.	.	ENSG00000047936	ENST00000368508;ENST00000368507	T;T	0.71817	-0.6;-0.6	5.1	4.22	0.49857	.	0.109437	0.40144	N	0.001168	T	0.65502	0.2697	L	0.32530	0.975	0.54753	D	0.999985	D	0.58970	0.984	D	0.70016	0.967	T	0.69453	-0.5141	10	0.52906	T	0.07	.	9.469	0.38831	0.0:0.9008:0.0:0.0992	.	1651	P08922	ROS1_HUMAN	I	1651;1645	ENSP00000357494:V1651I;ENSP00000357493:V1645I	ENSP00000357493:V1645I	V	-	1	0	ROS1	117769119	0.994000	0.37717	1.000000	0.80357	0.923000	0.55619	3.458000	0.53014	1.149000	0.42402	0.650000	0.86243	GTC		0.408	ROS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043464.1			4	71	0	0	0	1	0	4	71					T	117662426	C	T	117662426	3	4	274	1	0	0	0	0	1	0	0	0	13531	478	17	3	2148	3	ROS1	6	117662426	Missense_Mutation	SNP	C	TCGA-J4-A6G3-01A-11D-A30X-08		117662426	53452641	11	12698											
SAMD9	54809	broad.mit.edu	37	chr7	92734007	92734007	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtggttttctgttctacataTacacttggaaagtgaaggtt	10	16	10	5	0	2	1	0	1	2	0	2	2	2	2	0	3	2	3	0	3	5	8			TCGA-J4-A6G3-01A-11D-A30X-08	TCGA-J4-A6G3-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68b542b2-f763-47c4-9df4-3f92060c8495	5f191346-ea91-4227-861e-18f4cd4ecc5f	g.chr7:92734007T>C	ENST00000379958.2	-	3	1673	c.1404A>G	c.(1402-1404)gtA>gtG	p.V468V		NM_001193307.1|NM_017654.3	NP_001180236.1|NP_060124.2	Q5K651	SAMD9_HUMAN	sterile alpha motif domain containing 9	468						cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)				NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)			GTTCTACATATACACTTGGAA	0.403																																						ENST00000379958.2																			0				NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						c.(1402-1404)gtA>gtG		sterile alpha motif domain containing 9							67	64	65					7																	92734007		2203	4299	6502	SO:0001819	synonymous_variant	54809					cytoplasm		g.chr7:92734007T>C	AB095925	CCDS34680.1	7q21.2	2013-01-10	2004-07-15	2004-07-16	ENSG00000205413	ENSG00000205413		"Sterile alpha motif (SAM) domain containing"	1348	protein-coding gene	gene with protein product		610456	"chromosome 7 open reading frame 5"	C7orf5			Standard	NM_017654		Approved	KIAA2004, FLJ20073	uc003umg.3	Q5K651	OTTHUMG00000155809	ENST00000379958.2:c.1404A>G	7.37:g.92734007T>C							p.V468V	NM_001193307.1|NM_017654.3	NP_001180236.1|NP_060124.2	Q5K651	SAMD9_HUMAN	STAD - Stomach adenocarcinoma(171;0.000302)		3	1673	-	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		468					A2RU68|Q5K649|Q6P080|Q75N21|Q8IVG6|Q9NXS8	Silent	SNP	ENST00000379958.2	37	c.1404A>G	CCDS34680.1																																																																																				0.403	SAMD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341761.1	NM_017654		7	32	0	0	0	1	0	7	32					C	92734007	T	C	92734007	2	2	274	1	0	0	0	0	0	0	0	1	13826	1393	49	4		4	SAMD9	7	92734007	Silent	SNP	T	TCGA-J4-A6G3-01A-11D-A30X-08		92734007	66404656	12	12699											
NUP205	23165	broad.mit.edu	37	chr7	135279306	135279306	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aattcttagagtgaaaatgcTcgcttggcactctgtgaaca	12	12	9	8	1	2	3	0	2	2	1	3	3	2	3	0	1	2	3	0	1	5	3			TCGA-J4-A6G3-01A-11D-A30X-08	TCGA-J4-A6G3-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68b542b2-f763-47c4-9df4-3f92060c8495	5f191346-ea91-4227-861e-18f4cd4ecc5f	g.chr7:135279306T>C	ENST00000285968.6	+	13	1868	c.1842T>C	c.(1840-1842)gcT>gcC	p.A614A	NUP205_ENST00000440390.2_Intron	NM_015135.2	NP_055950	Q92621	NU205_HUMAN	nucleoporin 205kDa	614					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|nucleocytoplasmic transport (GO:0006913)|protein import into nucleus, docking (GO:0000059)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)	structural constituent of nuclear pore (GO:0017056)			breast(4)|central_nervous_system(2)|endometrium(9)|kidney(7)|large_intestine(17)|liver(4)|lung(36)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	93						GTGAAAATGCTCGCTTGGCAC	0.403																																						ENST00000285968.6																			0				breast(4)|central_nervous_system(2)|endometrium(9)|kidney(7)|large_intestine(17)|liver(4)|lung(36)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	93						c.(1840-1842)gcT>gcC		nucleoporin 205kDa							93	95	94					7																	135279306		2203	4300	6503	SO:0001819	synonymous_variant	23165				carbohydrate metabolic process|glucose transport|mRNA transport|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding	g.chr7:135279306T>C	D86978	CCDS34759.1	7q31.32	2007-03-26	2004-01-06	2004-01-07	ENSG00000155561	ENSG00000155561			18658	protein-coding gene	gene with protein product		614352	"chromosome 7 open reading frame 14"	C7orf14		9039502, 9348540	Standard	NM_015135		Approved	KIAA0225	uc003vsw.3	Q92621	OTTHUMG00000155497	ENST00000285968.6:c.1842T>C	7.37:g.135279306T>C						NUP205_ENST00000440390.2_Intron	p.A614A	NM_015135.2	NP_055950.1	Q92621	NU205_HUMAN			13	1868	+			614					A6H8X3|Q86YC1	Silent	SNP	ENST00000285968.6	37	c.1842T>C	CCDS34759.1																																																																																				0.403	NUP205-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340358.1			5	67	0	0	0	1	0	5	67					C	135279306	T	C	135279306	2	2	274	1	0	0	0	0	0	0	0	1	10759	1538	54	4		4	NUP205	7	135279306	Silent	SNP	T	TCGA-J4-A6G3-01A-11D-A30X-08	42545299	135279306	23859357	13	12700											
PAG1	55824	broad.mit.edu	37	chr8	81897133	81897133	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	tggtggggcctcctcttctgGatcacatgaatttccaagga	8	12	11	10	0	3	1	1	1	2	0	5	3	5	3	3	5	0	0	3	5	2	2			TCGA-J4-A6G3-01A-11D-A30X-08	TCGA-J4-A6G3-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68b542b2-f763-47c4-9df4-3f92060c8495	5f191346-ea91-4227-861e-18f4cd4ecc5f	g.chr8:81897133G>C	ENST00000220597.4	-	7	1464	c.754C>G	c.(754-756)Cca>Gca	p.P252A		NM_018440.3	NP_060910.3	Q9NWQ8	PHAG1_HUMAN	phosphoprotein membrane anchor with glycosphingolipid microdomains 1	252					epidermal growth factor receptor signaling pathway (GO:0007173)|intracellular signal transduction (GO:0035556)|negative regulation of T cell activation (GO:0050868)|positive regulation of signal transduction (GO:0009967)|regulation of T cell activation (GO:0050863)|signal transduction (GO:0007165)|T cell receptor signaling pathway (GO:0050852)	integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	SH2 domain binding (GO:0042169)|SH3/SH2 adaptor activity (GO:0005070)			breast(2)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|prostate(2)	11	Lung NSC(7;5.76e-06)|all_lung(9;2e-05)		BRCA - Breast invasive adenocarcinoma(6;0.0567)|Epithelial(68;0.0634)|all cancers(69;0.197)			TCCTCTTCTGGATCACATGAA	0.478																																						ENST00000220597.4																			0				breast(2)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|prostate(2)	11						c.(754-756)Cca>Gca		phosphoprotein associated with glycosphingolipid microdomains 1							146	143	144					8																	81897133		2203	4300	6503	SO:0001583	missense	55824				epidermal growth factor receptor signaling pathway|intracellular signal transduction|T cell receptor signaling pathway	integral to membrane|intracellular|membrane raft|plasma membrane	SH2 domain binding|SH3/SH2 adaptor activity	g.chr8:81897133G>C	AF240634	CCDS6227.1	8q21.13	2014-04-30	2014-04-30						30043	protein-coding gene	gene with protein product	"Csk-binding protein", "transmembrane adaptor protein PAG"	605767	"phosphoprotein associated with glycosphingolipid microdomains 1"			10790433	Standard	XM_006716461		Approved	PAG, CBP	uc003ybz.3	Q9NWQ8		ENST00000220597.4:c.754C>G	8.37:g.81897133G>C	ENSP00000220597:p.Pro252Ala						p.P252A	NM_018440.3	NP_060910.3	Q9NWQ8	PAG1_HUMAN	BRCA - Breast invasive adenocarcinoma(6;0.0567)|Epithelial(68;0.0634)|all cancers(69;0.197)		7	1464	-	Lung NSC(7;5.76e-06)|all_lung(9;2e-05)		252					A8K1A3|Q2M1Z9|Q5BKU4|Q9NYK0	Missense_Mutation	SNP	ENST00000220597.4	37	c.754C>G	CCDS6227.1	.	.	.	.	.	.	.	.	.	.	G	6.274	0.418577	0.11870	.	.	ENSG00000076641	ENST00000220597	.	.	.	5.33	-2.09	0.07232	.	1.435330	0.04031	N	0.301427	T	0.52191	0.1719	L	0.47716	1.5	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.52245	-0.8601	9	0.17369	T	0.5	1.4441	23.3323	0.99982	0.0:0.6698:0.3302:0.0	.	252	Q9NWQ8	PAG1_HUMAN	A	252	.	ENSP00000220597:P252A	P	-	1	0	PAG1	82059688	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.295000	0.08298	-0.247000	0.09597	-0.181000	0.13052	CCA		0.478	PAG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379352.3	NM_018440		7	93	0	0	0	1	0	7	93					C	81897133	G	C	81897133	3	2	274	1	0	0	0	0	1	0	0	0	11388	1174	41	5	556	5	PAG1	8	81897133	Missense_Mutation	SNP	G	TCGA-J4-A6G3-01A-11D-A30X-08		81897133	64466889	14	12701											
PKHD1L1	93035	broad.mit.edu	37	chr8	110442248	110442248	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	acattactcccctagtcttgGcgataagcccttctcaaggt	9	12	7	13	1	2	0	1	0	2	0	4	1	3	0	3	2	2	0	3	2	4	5			TCGA-J4-A6G3-01A-11D-A30X-08	TCGA-J4-A6G3-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68b542b2-f763-47c4-9df4-3f92060c8495	5f191346-ea91-4227-861e-18f4cd4ecc5f	g.chr8:110442248G>A	ENST00000378402.5	+	27	3315	c.3211G>A	c.(3211-3213)Gcg>Acg	p.A1071T		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	1071	IPT/TIG 4.				immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			CCTAGTCTTGGCGATAAGCCC	0.368										HNSCC(38;0.096)																												ENST00000378402.5																			0				NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263						c.(3211-3213)Gcg>Acg		polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1							121	107	111					8																	110442248		1870	4113	5983	SO:0001583	missense	93035				immune response	cytosol|extracellular space|integral to membrane	receptor activity	g.chr8:110442248G>A	AY219181	CCDS47911.1	8q23	2003-03-28			ENSG00000205038	ENSG00000205038			20313	protein-coding gene	gene with protein product		607843				12620974	Standard	NM_177531		Approved		uc003yne.3	Q86WI1	OTTHUMG00000164934	ENST00000378402.5:c.3211G>A	8.37:g.110442248G>A	ENSP00000367655:p.Ala1071Thr	HNSCC(38;0.096)					p.A1071T	NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)		27	3315	+			1071			IPT/TIG 4.		Q567P2|Q9UF27	Missense_Mutation	SNP	ENST00000378402.5	37	c.3211G>A	CCDS47911.1	.	.	.	.	.	.	.	.	.	.	G	9.042	0.989916	0.18966	.	.	ENSG00000205038	ENST00000378402	T	0.78003	-1.14	5.44	0.0583	0.14327	Cell surface receptor IPT/TIG (2);Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.842433	0.10435	N	0.674990	T	0.57577	0.2063	N	0.25332	0.735	0.09310	N	1	B	0.10296	0.003	B	0.13407	0.009	T	0.35773	-0.9775	10	0.12766	T	0.61	.	2.9311	0.05800	0.2832:0.0:0.3849:0.332	.	1071	Q86WI1	PKHL1_HUMAN	T	1071	ENSP00000367655:A1071T	ENSP00000367655:A1071T	A	+	1	0	PKHD1L1	110511424	0.000000	0.05858	0.000000	0.03702	0.085000	0.17905	0.416000	0.21198	0.054000	0.16065	0.650000	0.86243	GCG		0.368	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381017.1	NM_177531		3	22	0	0	0	1	0	3	22					A	110442248	G	A	110442248	3	1	274	1	0	0	0	0	1	0	0	0	11972	1203	42	3	3317	3	PKHD1L1	8	110442248	Missense_Mutation	SNP	G	TCGA-J4-A6G3-01A-11D-A30X-08	28545115	110442248	35921774	15	12702											
CYBASC3	220002	broad.mit.edu	37	chr11	61118523	61118523	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gatgaagccagaaggatgtaGagcaccagcagcccaaaggc	15	3	13	10	0	0	3	0	1	0	2	0	5	0	4	3	2	4	3	3	2	4	1			TCGA-J4-A6G3-01A-11D-A30X-08	TCGA-J4-A6G3-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68b542b2-f763-47c4-9df4-3f92060c8495	5f191346-ea91-4227-861e-18f4cd4ecc5f	g.chr11:61118523G>A	ENST00000294072.4	-	6	1322	c.645C>T	c.(643-645)ctC>ctT	p.L215L	CYB561A3_ENST00000536915.1_Silent_p.L215L|CYB561A3_ENST00000539890.1_Missense_Mutation_p.S94F|CYB561A3_ENST00000426130.2_Silent_p.L232L|CYB561A3_ENST00000540317.1_5'UTR|CYB561A3_ENST00000546151.1_3'UTR|CYB561A3_ENST00000447532.2_Silent_p.L215L|CYB561A3_ENST00000544118.1_Missense_Mutation_p.S89F	NM_001161452.1|NM_153611.4	NP_001154924.1|NP_705839.3	Q8NBI2	CYAC3_HUMAN	cytochrome b561 family, member A3	215	Cytochrome b561. {ECO:0000255|PROSITE- ProRule:PRU00242}.					integral component of membrane (GO:0016021)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)	metal ion binding (GO:0046872)|oxidoreductase activity (GO:0016491)										GAAGGATGTAGAGCACCAGCA	0.607																																						ENST00000544118.1																			0											c.(265-267)tCt>tTt		cytochrome b561 family, member A3							60	59	59					11																	61118523		2203	4299	6502	SO:0001819	synonymous_variant	220002							g.chr11:61118523G>A	AK024953	CCDS8004.1, CCDS53639.1, CCDS73296.1	11q12.2	2013-03-14	2013-03-14	2013-03-14		ENSG00000162144		"Cytochrome b genes"	23014	protein-coding gene	gene with protein product			"cytochrome b, ascorbate dependent 3"	CYBASC3		23249217	Standard	NM_153611		Approved		uc001nrf.4	Q8NBI2		ENST00000294072.4:c.645C>T	11.37:g.61118523G>A						CYB561A3_ENST00000536915.1_Silent_p.L215L|CYB561A3_ENST00000539890.1_Missense_Mutation_p.S94F|CYB561A3_ENST00000294072.4_Silent_p.L215L|CYB561A3_ENST00000447532.2_Silent_p.L215L|CYB561A3_ENST00000426130.2_Silent_p.L232L|CYB561A3_ENST00000546151.1_3'UTR|CYB561A3_ENST00000540317.1_5'UTR	p.S89F							4	493	-								B3KPU2|B4DLN9|J3KQH4|Q6PK96	Missense_Mutation	SNP	ENST00000294072.4	37	c.266C>T	CCDS8004.1	.	.	.	.	.	.	.	.	.	.	G	15.60	2.882470	0.51908	.	.	ENSG00000162144	ENST00000544118;ENST00000539890	.	.	.	5.68	3.75	0.43078	.	.	.	.	.	T	0.70596	0.3242	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.71846	-0.4469	5	0.87932	D	0	-35.8401	10.5811	0.45257	0.0741:0.4816:0.4442:0.0	.	.	.	.	F	89;94	.	ENSP00000443756:S94F	S	-	2	0	CYBASC3	60875099	1.000000	0.71417	0.999000	0.59377	0.982000	0.71751	1.166000	0.31834	0.706000	0.31912	0.563000	0.77884	TCT		0.607	CYB561A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398714.2	NM_153611		5	27	0	0	0	1	0	5	27					A	61118523	G	A	61118523	2	1	274	1	0	0	0	0	0	0	0	1	4132	929	33	3		3	CYBASC3	11	61118523	Silent	SNP	G	TCGA-J4-A6G3-01A-11D-A30X-08		61118523	73887993	16	12703											
CFL1	1072	broad.mit.edu	37	chr11	65623504	65623504	+	Frame_Shift_Del	DEL	A	A	-																															ttatctggcagcatcttgacAaaggtggcgtaggggtcgtc																										TCGA-J4-A6G3-01A-11D-A30X-08	TCGA-J4-A6G3-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68b542b2-f763-47c4-9df4-3f92060c8495	5f191346-ea91-4227-861e-18f4cd4ecc5f	g.chr11:65623504delA	ENST00000525451.2	-	3	928	c.213delT	c.(211-213)tttfs	p.F71fs	CFL1_ENST00000531413.1_Frame_Shift_Del_p.F54fs|CFL1_ENST00000531407.1_Frame_Shift_Del_p.F54fs|CFL1_ENST00000524553.1_Frame_Shift_Del_p.F54fs|CFL1_ENST00000308162.5_Frame_Shift_Del_p.F71fs|CFL1_ENST00000527344.1_Frame_Shift_Del_p.F54fs|CFL1_ENST00000534769.1_Frame_Shift_Del_p.F109fs			P23528	COF1_HUMAN	cofilin 1 (non-muscle)	71	ADF-H. {ECO:0000255|PROSITE- ProRule:PRU00599}.				actin cytoskeleton organization (GO:0030036)|actin filament depolymerization (GO:0030042)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cytoskeleton organization (GO:0007010)|establishment of cell polarity (GO:0030010)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|mitotic cytokinesis (GO:0000281)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell size (GO:0045792)|neural crest cell migration (GO:0001755)|neural fold formation (GO:0001842)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of actin filament depolymerization (GO:0030836)|protein import into nucleus (GO:0006606)|protein phosphorylation (GO:0006468)|regulation of cell morphogenesis (GO:0022604)|response to amino acid (GO:0043200)|response to virus (GO:0009615)|Rho protein signal transduction (GO:0007266)	cell-cell junction (GO:0005911)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				breast(1)|kidney(1)|large_intestine(2)|lung(2)	6				READ - Rectum adenocarcinoma(159;0.169)		GCATCTTGACAAAGGTGGCGT	0.537																																					Esophageal Squamous(90;820 1366 3932 32351 42291)	ENST00000525451.2																			0				breast(1)|kidney(1)|large_intestine(2)|lung(2)	6						c.(211-213)ttfs		cofilin 1 (non-muscle)							157	142	147					11																	65623504		2201	4297	6498	SO:0001589	frameshift_variant	1072				actin cytoskeleton organization|anti-apoptosis|axon guidance|platelet activation|platelet degranulation|response to virus|Rho protein signal transduction	cytoplasm|cytoskeleton|nuclear matrix	actin binding	g.chr11:65623504delA	X95404	CCDS8114.1	11q13.1	2010-12-03			ENSG00000172757	ENSG00000172757			1874	protein-coding gene	gene with protein product		601442		CFL		8800436	Standard	NM_005507		Approved		uc001ofs.3	P23528		ENST00000525451.2:c.213delT	11.37:g.65623504delA	ENSP00000432660:p.Phe71fs					CFL1_ENST00000531407.1_Frame_Shift_Del_p.F54fs|CFL1_ENST00000531413.1_Frame_Shift_Del_p.F54fs|CFL1_ENST00000524553.1_Frame_Shift_Del_p.F54fs|CFL1_ENST00000527344.1_Frame_Shift_Del_p.F54fs|CFL1_ENST00000308162.5_Frame_Shift_Del_p.F71fs|CFL1_ENST00000534769.1_Frame_Shift_Del_p.F109fs	p.F71fs			P23528	COF1_HUMAN		READ - Rectum adenocarcinoma(159;0.169)	3	928	-			71			ADF-H.		B3KUQ1|Q53Y87|Q9UCA2	Frame_Shift_Del	DEL	ENST00000525451.2	37	c.213delT	CCDS8114.1																																																																																				0.537	CFL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390701.3	NM_005507		16	121						16	121	---	---	---	---	-	65623504	A	-	65623504	7	5	274	1	0	1	0	1	0	0	0	0	3290	127	5	0	299	0	CFL1	11	65623504	Frame_Shift_Del	DEL	A	TCGA-J4-A6G3-01A-11D-A30X-08	4504981	65623504	69383012	17	12704											
CCDC87	55231	broad.mit.edu	37	chr11	66358990	66358990	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tggtcagaagagacatggctCatcaactccttgtagacctc	11	10	9	11	0	3	3	3	0	0	3	5	4	4	3	2	2	1	2	2	2	3	2			TCGA-J4-A6G3-01A-11D-A30X-08	TCGA-J4-A6G3-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68b542b2-f763-47c4-9df4-3f92060c8495	5f191346-ea91-4227-861e-18f4cd4ecc5f	g.chr11:66358990C>T	ENST00000333861.3	-	1	1564	c.1497G>A	c.(1495-1497)atG>atA	p.M499I	CCS_ENST00000533244.1_5'Flank|CCS_ENST00000310190.4_5'Flank	NM_018219.2	NP_060689.2	Q9NVE4	CCD87_HUMAN	coiled-coil domain containing 87	499					cytokinesis (GO:0000910)|microtubule cytoskeleton organization (GO:0000226)					central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						AGACATGGCTCATCAACTCCT	0.463																																						ENST00000333861.3																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						c.(1495-1497)atG>atA		coiled-coil domain containing 87							112	112	112					11																	66358990		2200	4295	6495	SO:0001583	missense	55231							g.chr11:66358990C>T	BC034469	CCDS8145.1	11q13.2	2006-03-15			ENSG00000182791	ENSG00000182791			25579	protein-coding gene	gene with protein product						12477932	Standard	NM_018219		Approved	FLJ10786	uc001oiq.4	Q9NVE4	OTTHUMG00000167237	ENST00000333861.3:c.1497G>A	11.37:g.66358990C>T	ENSP00000328487:p.Met499Ile						p.M499I	NM_018219.2	NP_060689.2	Q9NVE4	CCD87_HUMAN			1	1564	-			499					Q8NE76	Missense_Mutation	SNP	ENST00000333861.3	37	c.1497G>A	CCDS8145.1	.	.	.	.	.	.	.	.	.	.	C	6.241	0.412538	0.11812	.	.	ENSG00000182791	ENST00000333861	T	0.33216	1.42	5.3	3.37	0.38596	.	0.386734	0.22040	N	0.065462	T	0.21509	0.0518	L	0.38531	1.155	0.31495	N	0.665548	B	0.21821	0.061	B	0.15870	0.014	T	0.12760	-1.0535	10	0.38643	T	0.18	-4.3813	7.4557	0.27266	0.0:0.7442:0.1664:0.0894	.	499	Q9NVE4	CCD87_HUMAN	I	499	ENSP00000328487:M499I	ENSP00000328487:M499I	M	-	3	0	CCDC87	66115566	1.000000	0.71417	0.999000	0.59377	0.233000	0.25261	0.664000	0.25068	0.755000	0.32990	0.563000	0.77884	ATG		0.463	CCDC87-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393825.1	NM_018219		21	106	0	0	0	1	0	21	106					T	66358990	C	T	66358990	3	4	274	1	0	0	0	0	1	0	0	0	2862	826	29	3	1056	3	CCDC87	11	66358990	Missense_Mutation	SNP	C	TCGA-J4-A6G3-01A-11D-A30X-08	735486	66358990	68647526	18	12705											
CTTN	2017	broad.mit.edu	37	chr11	70282413	70282413	+	3'UTR	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcatctccttcctgaggagcCgggaggctggaccagtcccg	6	8	13	14	2	2	1	1	1	1	0	5	4	4	4	5	4	1	1	5	4	0	1	rs200495186		TCGA-J4-A6G3-01A-11D-A30X-08	TCGA-J4-A6G3-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68b542b2-f763-47c4-9df4-3f92060c8495	5f191346-ea91-4227-861e-18f4cd4ecc5f	g.chr11:70282413C>T	ENST00000301843.8	+	0	3004				CTTN_ENST00000346329.3_3'UTR|CTTN_ENST00000376561.3_Missense_Mutation_p.R602W	NM_005231.3	NP_005222.2	Q14247	SRC8_HUMAN	cortactin						negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|mitotic spindle midzone (GO:1990023)|ruffle (GO:0001726)				breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	31			BRCA - Breast invasive adenocarcinoma(2;4.34e-41)|LUSC - Lung squamous cell carcinoma(11;1.51e-13)|STAD - Stomach adenocarcinoma(18;0.0513)	Lung(977;0.0234)|LUSC - Lung squamous cell carcinoma(976;0.133)		CCTGAGGAGCCGGGAGGCTGG	0.607																																						ENST00000376561.3																			0				breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	31						c.(1804-1806)Cgg>Tgg		cortactin		C	TRP/ARG,,	1,1745		0,1,872	102	100	100		1804,,	-2.7	0	11		100	6,3964		0,6,1979	yes	missense,utr-3,utr-3	CTTN	NM_001184740.1,NM_005231.3,NM_138565.2	101,,	0,7,2851	TT,TC,CC		0.1511,0.0573,0.1225	,,	602/635,,	70282413	7,5709	873	1985	2858	SO:0001624	3_prime_UTR_variant	2017					cell cortex|cytoskeleton|lamellipodium|ruffle|soluble fraction	protein binding	g.chr11:70282413C>T	AJ288897	CCDS8197.1, CCDS41680.1, CCDS53676.1	11q13	2008-02-05	2004-06-08	2004-06-09	ENSG00000085733	ENSG00000085733			3338	protein-coding gene	gene with protein product		164765	"ems1 sequence (mammary tumor and squamous cell carcinoma-associated (p80/85 src substrate)"	EMS1		7685625	Standard	NM_005231		Approved		uc001opu.3	Q14247	OTTHUMG00000134307	ENST00000301843.8:c.*1145C>T	11.37:g.70282413C>T						CTTN_ENST00000346329.3_3'UTR|CTTN_ENST00000301843.8_3'UTR	p.R602W	NM_001184740.1	NP_001171669.1	Q14247	SRC8_HUMAN	BRCA - Breast invasive adenocarcinoma(2;4.34e-41)|LUSC - Lung squamous cell carcinoma(11;1.51e-13)|STAD - Stomach adenocarcinoma(18;0.0513)	Lung(977;0.0234)|LUSC - Lung squamous cell carcinoma(976;0.133)	19	1975	+			0					Q8N707|Q96H99	Missense_Mutation	SNP	ENST00000301843.8	37	c.1804C>T	CCDS41680.1	.	.	.	.	.	.	.	.	.	.	C	10.98	1.504048	0.26949	5.73E-4	0.001511	ENSG00000085733	ENST00000376561;ENST00000529736	T;T	0.37584	1.19;1.29	4.11	-2.72	0.05968	.	.	.	.	.	T	0.22742	0.0549	.	.	.	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.25152	-1.0140	8	0.87932	D	0	.	4.5347	0.12022	0.0:0.3371:0.2941:0.3688	.	602	Q8N707	.	W	602;233	ENSP00000365745:R602W;ENSP00000431421:R233W	ENSP00000365745:R602W	R	+	1	2	CTTN	69960061	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.307000	0.08167	-0.707000	0.05022	-0.136000	0.14681	CGG		0.607	CTTN-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259233.2	NM_138565		4	66	0	0	0	1	0	4	66					T	70282413	C	T	70282413	1	4	274	0	1	0	0	0	0	0	0	0	4044	643	23	2		2	CTTN	11	70282413	3'UTR	SNP	C	TCGA-J4-A6G3-01A-11D-A30X-08	3923423	70282413	64724103	19	12706											
ERBB3	2065	broad.mit.edu	37	chr12	56492616	56492616	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cgattggctgaagtaccagaCctgctagagaagggggagcg	11	6	16	8	2	0	3	0	1	0	2	0	6	0	4	2	3	3	3	2	3	4	3			TCGA-J4-A6G3-01A-11D-A30X-08	TCGA-J4-A6G3-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68b542b2-f763-47c4-9df4-3f92060c8495	5f191346-ea91-4227-861e-18f4cd4ecc5f	g.chr12:56492616C>T	ENST00000267101.3	+	23	3206	c.2766C>T	c.(2764-2766)gaC>gaT	p.D922D	ERBB3_ENST00000549832.1_Silent_p.D42D|ERBB3_ENST00000553131.1_Silent_p.D163D|RP11-603J24.9_ENST00000548861.1_5'Flank|ERBB3_ENST00000415288.2_Silent_p.D863D|ERBB3_ENST00000450146.2_Silent_p.D279D	NM_001982.3	NP_001973.2	P21860	ERBB3_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3	922	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cranial nerve development (GO:0021545)|endocardial cushion development (GO:0003197)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|negative regulation of cell adhesion (GO:0007162)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of secretion (GO:0051048)|negative regulation of signal transduction (GO:0009968)|neuron apoptotic process (GO:0051402)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein tyrosine kinase activity (GO:0061098)|regulation of cell proliferation (GO:0042127)|Schwann cell differentiation (GO:0014037)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein tyrosine kinase activator activity (GO:0030296)|transmembrane signaling receptor activity (GO:0004888)			central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	8			OV - Ovarian serous cystadenocarcinoma(18;0.112)			AAGTACCAGACCTGCTAGAGA	0.532																																						ENST00000267101.3																			0				central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	8						c.(2764-2766)gaC>gaT		v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3							129	115	120					12																	56492616		2203	4300	6503	SO:0001819	synonymous_variant	2065				cranial nerve development|heart development|negative regulation of cell adhesion|negative regulation of neuron apoptosis|negative regulation of secretion|negative regulation of signal transduction|neuron apoptosis|phosphatidylinositol 3-kinase cascade|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of cell proliferation|Schwann cell differentiation|transmembrane receptor protein tyrosine kinase signaling pathway|wound healing	basolateral plasma membrane|extracellular space|integral to plasma membrane|receptor complex	ATP binding|growth factor binding|protein heterodimerization activity|protein homodimerization activity|protein tyrosine kinase activator activity|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity	g.chr12:56492616C>T	M34309	CCDS31833.1, CCDS44918.1	12q13	2013-07-09	2013-07-09			ENSG00000065361			3431	protein-coding gene	gene with protein product		190151	"lethal congenital contracture syndrome 2"	LCCS2			Standard	NM_001982		Approved	HER3	uc001sjh.3	P21860	OTTHUMG00000170140	ENST00000267101.3:c.2766C>T	12.37:g.56492616C>T						ERBB3_ENST00000553131.1_Silent_p.D163D|ERBB3_ENST00000450146.2_Silent_p.D279D|ERBB3_ENST00000415288.2_Silent_p.D863D|ERBB3_ENST00000549832.1_Silent_p.D42D	p.D922D	NM_001982.3	NP_001973.2	P21860	ERBB3_HUMAN	OV - Ovarian serous cystadenocarcinoma(18;0.112)		23	3206	+			922			Protein kinase.		A8K6L6|B4DIK7|B4DV32|E9PDT8|Q9BUD7	Silent	SNP	ENST00000267101.3	37	c.2766C>T	CCDS31833.1																																																																																				0.532	ERBB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407619.3			4	78	0	0	0	1	0	4	78					T	56492616	C	T	56492616	2	4	274	1	0	0	0	0	0	0	0	1	5208	506	18	3		3	ERBB3	12	56492616	Silent	SNP	C	TCGA-J4-A6G3-01A-11D-A30X-08		56492616	77359279	20	12707											
GRIP1	23426	broad.mit.edu	37	chr12	66788097	66788097	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccgtagcgtttaagctccaCggtgtaaataattgctccgg	9	11	10	11	4	0	0	0	0	0	0	2	0	2	0	3	2	3	5	3	2	5	6			TCGA-J4-A6G3-01A-11D-A30X-08	TCGA-J4-A6G3-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68b542b2-f763-47c4-9df4-3f92060c8495	5f191346-ea91-4227-861e-18f4cd4ecc5f	g.chr12:66788097C>T	ENST00000398016.3	-	16	1932	c.1864G>A	c.(1864-1866)Gtg>Atg	p.V622M	GRIP1_ENST00000286445.7_Missense_Mutation_p.V674M|GRIP1_ENST00000542021.1_5'Flank|GRIP1_ENST00000359742.4_Missense_Mutation_p.V674M	NM_021150.3	NP_066973.2	Q96DT0	LEG12_HUMAN	glutamate receptor interacting protein 1	0					intrinsic apoptotic signaling pathway (GO:0097193)	nucleus (GO:0005634)	lactose binding (GO:0030395)			NS(3)|breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(19)|ovary(2)|prostate(2)|skin(1)	50			GBM - Glioblastoma multiforme(2;0.00069)	GBM - Glioblastoma multiforme(28;0.0933)		TTAAGCTCCACGGTGTAAATA	0.413																																						ENST00000359742.4																			0				NS(3)|breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(19)|ovary(2)|prostate(2)|skin(1)	50						c.(2020-2022)Gtg>Atg		glutamate receptor interacting protein 1							77	73	74					12																	66788097		1815	4074	5889	SO:0001583	missense	23426				androgen receptor signaling pathway|intracellular signal transduction|positive regulation of transcription, DNA-dependent|synaptic transmission	cell junction|cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|postsynaptic membrane	androgen receptor binding|beta-catenin binding|protein C-terminus binding|receptor signaling complex scaffold activity|transcription coactivator activity	g.chr12:66788097C>T	AJ133439	CCDS41807.1	12q13.13	2008-05-02			ENSG00000155974	ENSG00000155974			18708	protein-coding gene	gene with protein product		604597				10197531	Standard	NM_021150		Approved		uc001stk.3	Q9Y3R0	OTTHUMG00000169019	ENST00000398016.3:c.1864G>A	12.37:g.66788097C>T	ENSP00000381098:p.Val622Met					GRIP1_ENST00000398016.3_Missense_Mutation_p.V622M|GRIP1_ENST00000286445.7_Missense_Mutation_p.V674M	p.V674M			Q9Y3R0	GRIP1_HUMAN	GBM - Glioblastoma multiforme(2;0.00069)	GBM - Glioblastoma multiforme(28;0.0933)	17	2260	-			674			PDZ 6.		B2R9N2|G5E970|Q96DS9|Q96PR9|Q9H258|Q9H259|Q9NZ02	Missense_Mutation	SNP	ENST00000398016.3	37	c.2020G>A	CCDS41807.1	.	.	.	.	.	.	.	.	.	.	C	27.3	4.815383	0.90790	.	.	ENSG00000155974	ENST00000398016;ENST00000359742;ENST00000286445;ENST00000538211;ENST00000540433;ENST00000536215	T;T;T;T;T;T	0.42900	0.96;0.96;0.96;0.96;0.96;0.96	4.2	4.2	0.49525	PDZ/DHR/GLGF (3);	0.250432	0.39146	N	0.001446	T	0.71584	0.3357	M	0.92122	3.275	0.80722	D	1	D;D;D;D	0.89917	1.0;0.998;0.997;0.999	D;D;P;D	0.66979	0.921;0.92;0.908;0.948	T	0.80070	-0.1536	9	.	.	.	-18.3282	17.8456	0.88729	0.0:1.0:0.0:0.0	.	622;674;622;674	F5H4N6;Q9Y3R0;Q9Y3R0-3;Q9Y3R0-2	.;GRIP1_HUMAN;.;.	M	622;674;674;622;566;514	ENSP00000381098:V622M;ENSP00000352780:V674M;ENSP00000286445:V674M;ENSP00000446047:V622M;ENSP00000446024:V566M;ENSP00000446011:V514M	.	V	-	1	0	GRIP1	65074364	1.000000	0.71417	0.997000	0.53966	0.993000	0.82548	7.609000	0.82925	2.644000	0.89710	0.655000	0.94253	GTG		0.413	GRIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401975.2			7	55	0	0	0	1	0	7	55					T	66788097	C	T	66788097	3	4	274	1	0	0	0	0	1	0	0	0	6787	536	19	1	1402	1	GRIP1	12	66788097	Missense_Mutation	SNP	C	TCGA-J4-A6G3-01A-11D-A30X-08	10295481	66788097	67063798	21	12708											
MBNL2	10150	broad.mit.edu	37	chr13	98043657	98043657	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	taaacattgttactgtacatActatcctgtttcctcctcaa	11	16	3	11	0	1	0	1	0	0	0	4	0	4	0	3	0	4	3	3	0	7	7			TCGA-J4-A6G3-01A-11D-A30X-08	TCGA-J4-A6G3-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68b542b2-f763-47c4-9df4-3f92060c8495	5f191346-ea91-4227-861e-18f4cd4ecc5f	g.chr13:98043657A>G	ENST00000376673.3	+	8	1857	c.1076A>G	c.(1075-1077)tAc>tGc	p.Y359C	MBNL2_ENST00000397601.1_Missense_Mutation_p.Y347C|MBNL2_ENST00000345429.6_3'UTR|MBNL2_ENST00000445661.2_Missense_Mutation_p.Y192C|MBNL2_ENST00000343600.4_Missense_Mutation_p.Y347C			Q5VZF2	MBNL2_HUMAN	muscleblind-like splicing regulator 2	359					mRNA processing (GO:0006397)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			endometrium(4)|large_intestine(4)|lung(7)|prostate(1)|skin(1)	17	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.218)			TACTGTACATACTATCCTGTT	0.363																																						ENST00000376673.3																			0				endometrium(4)|large_intestine(4)|lung(7)|prostate(1)|skin(1)	17						c.(1075-1077)tAc>tGc		muscleblind-like splicing regulator 2							178	155	163					13																	98043657		2203	4300	6503	SO:0001583	missense	10150				mRNA processing|regulation of RNA splicing|RNA splicing	cytoplasm|nucleus	RNA binding|zinc ion binding	g.chr13:98043657A>G	AF061261	CCDS9483.1, CCDS9484.1	13q31.1	2013-01-18	2012-02-23		ENSG00000139793	ENSG00000139793		"Zinc fingers, CCCH-type domain containing"	16746	protein-coding gene	gene with protein product		607327	"muscleblind-like 2 (Drosophila)"			11929853	Standard	NM_207304		Approved	MBLL, MBLL39	uc001vmz.4	Q5VZF2	OTTHUMG00000017239	ENST00000376673.3:c.1076A>G	13.37:g.98043657A>G	ENSP00000365861:p.Tyr359Cys					MBNL2_ENST00000343600.4_Missense_Mutation_p.Y347C|MBNL2_ENST00000445661.2_Missense_Mutation_p.Y192C|MBNL2_ENST00000397601.1_Missense_Mutation_p.Y347C|MBNL2_ENST00000345429.6_3'UTR	p.Y359C			Q5VZF2	MBNL2_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.218)		8	1857	+	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		359					Q3SXY5|Q58F19|Q8NEV3|Q8TD82	Missense_Mutation	SNP	ENST00000376673.3	37	c.1076A>G		.	.	.	.	.	.	.	.	.	.	A	19.69	3.875122	0.72180	.	.	ENSG00000139793	ENST00000397601;ENST00000343600;ENST00000376673;ENST00000445661	T;T;T;T	0.57595	0.48;0.48;0.45;0.39	5.27	5.27	0.74061	.	0.350601	0.28119	N	0.016535	T	0.54175	0.1842	N	0.08118	0	0.37493	D	0.916463	D;B;D	0.71674	0.998;0.0;0.998	D;B;D	0.77557	0.966;0.002;0.99	T	0.68059	-0.5509	10	0.87932	D	0	.	15.4911	0.75605	1.0:0.0:0.0:0.0	.	192;359;347	B4E3F7;Q5VZF2;A2A3S3	.;MBNL2_HUMAN;.	C	347;347;359;192	ENSP00000380726:Y347C;ENSP00000344214:Y347C;ENSP00000365861:Y359C;ENSP00000406842:Y192C	ENSP00000344214:Y347C	Y	+	2	0	MBNL2	96841658	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.135000	0.77276	2.122000	0.65172	0.379000	0.24179	TAC		0.363	MBNL2-202	KNOWN	basic	protein_coding	protein_coding		NM_144778		6	66	0	0	0	1	0	6	66					G	98043657	A	G	98043657	3	3	274	1	0	0	0	0	1	0	0	0	9354	391	14	4	1201	4	MBNL2	13	98043657	Missense_Mutation	SNP	A	TCGA-J4-A6G3-01A-11D-A30X-08		98043657	17126221	22	12709											
PAX9	5083	broad.mit.edu	37	chr14	37132444	37132444	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cggcgtgtgcgacaagtacaAtgtgccctccgtgagctcca	8	8	12	13	4	0	1	0	1	0	0	2	2	2	1	3	1	4	2	3	1	3	1			TCGA-J4-A6G3-01A-11D-A30X-08	TCGA-J4-A6G3-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68b542b2-f763-47c4-9df4-3f92060c8495	5f191346-ea91-4227-861e-18f4cd4ecc5f	g.chr14:37132444A>G	ENST00000361487.6	+	2	572	c.347A>G	c.(346-348)aAt>aGt	p.N116S	PAX9_ENST00000402703.2_Missense_Mutation_p.N116S|PAX9_ENST00000554201.1_5'UTR			P55771	PAX9_HUMAN	paired box 9	116	Paired. {ECO:0000255|PROSITE- ProRule:PRU00381}.				cellular response to growth factor stimulus (GO:0071363)|endoderm development (GO:0007492)|face morphogenesis (GO:0060325)|negative regulation of transcription, DNA-templated (GO:0045892)|odontogenesis (GO:0042476)|regulation of odontogenesis (GO:0042481)	nucleus (GO:0005634)	RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(3)	12	Hepatocellular(127;0.158)|Esophageal squamous(585;0.164)|Breast(36;0.218)		Lung(8;1.12e-09)|LUAD - Lung adenocarcinoma(9;2.16e-07)|Epithelial(34;0.00357)|all cancers(34;0.00998)|LUSC - Lung squamous cell carcinoma(13;0.0189)	GBM - Glioblastoma multiforme(112;0.0181)		GACAAGTACAATGTGCCCTCC	0.607																																						ENST00000361487.6																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(3)	12						c.(346-348)aAt>aGt		paired box 9							88	81	84					14																	37132444		2203	4300	6503	SO:0001583	missense	5083				multicellular organismal development|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	g.chr14:37132444A>G	AJ238381	CCDS9662.1	14q13.3	2007-07-12	2007-07-12		ENSG00000198807	ENSG00000198807		"Paired boxes"	8623	protein-coding gene	gene with protein product		167416	"paired box gene 9"			7981748	Standard	NM_006194		Approved		uc001wty.4	P55771	OTTHUMG00000140251	ENST00000361487.6:c.347A>G	14.37:g.37132444A>G	ENSP00000355245:p.Asn116Ser					PAX9_ENST00000402703.2_Missense_Mutation_p.N116S|PAX9_ENST00000554201.1_5'UTR	p.N116S			P55771	PAX9_HUMAN	Lung(8;1.12e-09)|LUAD - Lung adenocarcinoma(9;2.16e-07)|Epithelial(34;0.00357)|all cancers(34;0.00998)|LUSC - Lung squamous cell carcinoma(13;0.0189)	GBM - Glioblastoma multiforme(112;0.0181)	2	572	+	Hepatocellular(127;0.158)|Esophageal squamous(585;0.164)|Breast(36;0.218)		116			Paired.		Q99582|Q9UQR4	Missense_Mutation	SNP	ENST00000361487.6	37	c.347A>G	CCDS9662.1	.	.	.	.	.	.	.	.	.	.	A	22.8	4.332645	0.81801	.	.	ENSG00000198807	ENST00000402703;ENST00000361487	D;D	0.99394	-5.82;-5.82	5.25	5.25	0.73442	Paired box protein, N-terminal (3);Winged helix-turn-helix transcription repressor DNA-binding (1);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	D	0.98686	0.9559	L	0.31526	0.94	0.80722	D	1	D	0.61080	0.989	D	0.64144	0.922	D	0.99904	1.1174	10	0.62326	D	0.03	.	15.1383	0.72586	1.0:0.0:0.0:0.0	.	116	P55771	PAX9_HUMAN	S	116	ENSP00000384817:N116S;ENSP00000355245:N116S	ENSP00000355245:N116S	N	+	2	0	PAX9	36202195	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	7.493000	0.81493	1.978000	0.57642	0.459000	0.35465	AAT		0.607	PAX9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276733.2			13	117	0	0	0	1	0	13	117					G	37132444	A	G	37132444	3	3	274	1	0	0	0	0	1	0	0	0	11486	101	4	4	353	4	PAX9	14	37132444	Missense_Mutation	SNP	A	TCGA-J4-A6G3-01A-11D-A30X-08		37132444	70217096	23	12710											
NPC2	10577	broad.mit.edu	37	chr14	74959974	74959974	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaatgtagctgccaggaaacGcatcgcggataacgaagttc	13	7	12	9	4	0	0	0	0	0	0	2	4	0	2	1	2	4	4	1	2	5	3			TCGA-J4-A6G3-01A-11D-A30X-08	TCGA-J4-A6G3-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68b542b2-f763-47c4-9df4-3f92060c8495	5f191346-ea91-4227-861e-18f4cd4ecc5f	g.chr14:74959974G>A	ENST00000555619.1	-	1	241	c.4C>T	c.(4-6)Cgt>Tgt	p.R2C	NPC2_ENST00000434013.2_Missense_Mutation_p.R2C|NPC2_ENST00000541064.1_Missense_Mutation_p.R2C|NPC2_ENST00000557510.1_Missense_Mutation_p.R2C|NPC2_ENST00000238633.2_Missense_Mutation_p.R2C|ISCA2_ENST00000554924.1_5'Flank|ISCA2_ENST00000556816.1_5'Flank|ISCA2_ENST00000298818.8_5'Flank	NM_006432.3	NP_006423.1	P61916	NPC2_HUMAN	Niemann-Pick disease, type C2	2					cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|glycolipid transport (GO:0046836)|intracellular cholesterol transport (GO:0032367)|intracellular sterol transport (GO:0032366)|phospholipid transport (GO:0015914)|regulation of isoprenoid metabolic process (GO:0019747)|response to virus (GO:0009615)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	cholesterol binding (GO:0015485)|enzyme binding (GO:0019899)			breast(1)|endometrium(2)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(2)	7				BRCA - Breast invasive adenocarcinoma(234;0.00149)		GCCAGGAAACGCATCGCGGAT	0.667																																					Pancreas(93;260 1497 8575 30964 48133)	ENST00000541064.1																			0				breast(1)|endometrium(2)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(2)	7						c.(4-6)Cgt>Tgt		Niemann-Pick disease, type C2							34	38	37					14																	74959974		2203	4300	6503	SO:0001583	missense	10577				cholesterol efflux|cholesterol homeostasis|glycolipid transport|intracellular cholesterol transport|phospholipid transport|regulation of isoprenoid metabolic process|response to virus	extracellular region|lysosome	cholesterol binding|enzyme binding	g.chr14:74959974G>A	X67698	CCDS32121.1	14q24.3	2009-09-12				ENSG00000119655			14537	protein-coding gene	gene with protein product	"epididymal protein 1"	601015				8418812, 11125141	Standard	NM_006432		Approved	HE1, NP-C2, EDDM1	uc001xpy.3	P61916		ENST00000555619.1:c.4C>T	14.37:g.74959974G>A	ENSP00000451112:p.Arg2Cys					NPC2_ENST00000238633.2_Missense_Mutation_p.R2C|NPC2_ENST00000557510.1_Missense_Mutation_p.R2C|NPC2_ENST00000555619.1_Missense_Mutation_p.R2C|NPC2_ENST00000434013.2_Missense_Mutation_p.R2C	p.R2C			P61916	NPC2_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00149)	1	10	-			2					B4DQV7|Q15668|Q29413	Missense_Mutation	SNP	ENST00000555619.1	37	c.4C>T	CCDS32121.1	.	.	.	.	.	.	.	.	.	.	G	17.17	3.321316	0.60634	.	.	ENSG00000119655	ENST00000434013;ENST00000541064;ENST00000555619;ENST00000238633;ENST00000553490;ENST00000557510;ENST00000555592	D;D;D;D;D;D;D	0.90788	-2.7;-2.55;-2.52;-2.53;-2.73;-2.6;-2.53	5.07	-1.7	0.08159	.	1.408580	0.03784	N	0.261798	D	0.84188	0.5417	L	0.34521	1.04	0.22446	N	0.9991	B;B	0.09022	0.002;0.002	B;B	0.04013	0.001;0.001	T	0.68985	-0.5265	10	0.66056	D	0.02	-0.0712	4.4954	0.11835	0.0765:0.1251:0.2859:0.5125	.	2;2	B4DQV7;P61916	.;NPC2_HUMAN	C	2	ENSP00000412103:R2C;ENSP00000442488:R2C;ENSP00000451112:R2C;ENSP00000238633:R2C;ENSP00000451180:R2C;ENSP00000451206:R2C;ENSP00000450887:R2C	ENSP00000238633:R2C	R	-	1	0	NPC2	74029727	0.000000	0.05858	0.003000	0.11579	0.001000	0.01503	-1.206000	0.03011	-0.408000	0.07565	-0.989000	0.02550	CGT		0.667	NPC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412346.1	NM_006432		3	18	0	0	0	1	0	3	18					A	74959974	G	A	74959974	3	1	274	1	0	0	0	0	1	0	0	0	10572	1087	38	1	471	1	NPC2	14	74959974	Missense_Mutation	SNP	G	TCGA-J4-A6G3-01A-11D-A30X-08	37827530	74959974	32389566	24	12711											
C14orf49	161176	broad.mit.edu	37	chr14	95921914	95921914	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctcctcctcccagagggcgcGcagcttctccagaactttcc	6	9	8	18	2	1	2	0	0	1	2	6	2	5	2	5	1	2	2	5	1	1	2	rs201816324	byFrequency	TCGA-J4-A6G3-01A-11D-A30X-08	TCGA-J4-A6G3-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68b542b2-f763-47c4-9df4-3f92060c8495	5f191346-ea91-4227-861e-18f4cd4ecc5f	g.chr14:95921914G>A	ENST00000334258.5	-	5	951	c.937C>T	c.(937-939)Cgc>Tgc	p.R313C	SYNE3_ENST00000553340.1_Missense_Mutation_p.R313C|SYNE3_ENST00000557275.1_Missense_Mutation_p.R313C|SYNE3_ENST00000554873.1_Missense_Mutation_p.R70C	NM_152592.3	NP_689805.3	Q6ZMZ3	SYNE3_HUMAN	spectrin repeat containing, nuclear envelope family member 3	313					cytoskeletal anchoring at nuclear membrane (GO:0090286)|cytoskeleton organization (GO:0007010)|establishment of protein localization to membrane (GO:0090150)|regulation of cell shape (GO:0008360)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear outer membrane (GO:0005640)|SUN-KASH complex (GO:0034993)	actin filament binding (GO:0051015)			breast(1)|endometrium(2)|lung(25)	28						CAGAGGGCGCGCAGCTTCTCC	0.617													G|||	3	0.000599042	0	0	5008	,	,		17818	0.002		0.001	False		,,,				2504	0					ENST00000334258.5																			0				breast(1)|endometrium(2)|lung(25)	28						c.(937-939)Cgc>Tgc		spectrin repeat containing, nuclear envelope family member 3		G	CYS/ARG	0,4406		0,0,2203	82	88	86		937	1.4	0.3	14		86	1,8599	1.2+/-3.3	0,1,4299	yes	missense	C14orf49	NM_152592.3	180	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	313/976	95921914	1,13005	2203	4300	6503	SO:0001583	missense	161176							g.chr14:95921914G>A	AK098471	CCDS9935.1	14q32.13	2012-05-31	2012-05-31	2012-05-31	ENSG00000176438	ENSG00000176438			19861	protein-coding gene	gene with protein product		610861	"chromosome 14 open reading frame 49"	C14orf49			Standard	NM_152592		Approved	FLJ25605, NET53, Nesprin-3, Nesp3	uc001yei.4	Q6ZMZ3	OTTHUMG00000171632	ENST00000334258.5:c.937C>T	14.37:g.95921914G>A	ENSP00000334308:p.Arg313Cys					SYNE3_ENST00000553340.1_Missense_Mutation_p.R313C|SYNE3_ENST00000554873.1_Missense_Mutation_p.R70C|SYNE3_ENST00000557275.1_Missense_Mutation_p.R313C	p.R313C	NM_152592.3	NP_689805.3					5	951	-								A6H8H3|Q86SX5|Q8N7G8	Missense_Mutation	SNP	ENST00000334258.5	37	c.937C>T	CCDS9935.1	2	9.157509157509158E-4	0	0.0	0	0.0	1	0.0017482517482517483	1	0.0013192612137203166	G	13.49	2.253119	0.39797	0.0	1.16E-4	ENSG00000176438	ENST00000334258;ENST00000554873;ENST00000557275;ENST00000553340	T;T;T;T	0.35421	3.41;1.31;3.4;2.82	4.99	1.38	0.22167	.	0.539289	0.13989	N	0.348960	T	0.51890	0.1701	M	0.70595	2.14	0.43622	D	0.996004	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.68765	0.96;0.927;0.912	T	0.49943	-0.8885	10	0.66056	D	0.02	-4.8666	6.2119	0.20633	0.1151:0.0:0.2845:0.6004	.	313;313;313	Q6ZMZ3-2;Q6ZMZ3-3;Q6ZMZ3	.;.;SYNE3_HUMAN	C	313;70;313;313	ENSP00000334308:R313C;ENSP00000452154:R70C;ENSP00000450562:R313C;ENSP00000450774:R313C	ENSP00000334308:R313C	R	-	1	0	C14orf49	94991667	0.997000	0.39634	0.285000	0.24819	0.108000	0.19459	0.977000	0.29475	0.373000	0.24621	0.455000	0.32223	CGC		0.617	SYNE3-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000420529.2	NM_152592		6	157	0	0	0	1	0	6	157					A	95921914	G	A	95921914	3	1	274	1	0	0	0	0	1	0	0	0	1776	1087	38	1	2042	1	C14orf49	14	95921914	Missense_Mutation	SNP	G	TCGA-J4-A6G3-01A-11D-A30X-08	20961940	95921914	11427626	25	12712											
CYFIP1	23191	broad.mit.edu	37	chr15	22933658	22933658	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	atcataacaagatcacacagGtaaggctggtgtttgcacac	14	9	9	9	0	2	1	2	0	0	1	2	1	2	1	0	3	2	4	0	3	3	3			TCGA-J4-A6G3-01A-11D-A30X-08	TCGA-J4-A6G3-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68b542b2-f763-47c4-9df4-3f92060c8495	5f191346-ea91-4227-861e-18f4cd4ecc5f	g.chr15:22933658G>T	ENST00000313077.7	+	7	791		c.e7+1		CYFIP1_ENST00000560848.1_Splice_Site	NM_014608.2	NP_055423.1			cytoplasmic FMR1 interacting protein 1											endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(1)|lung(14)|ovary(4)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	40		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;2.22e-06)|Epithelial(43;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00101)		GATCACACAGGTAAGGCTGGT	0.537																																						ENST00000313077.7																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(1)|lung(14)|ovary(4)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	40						c.e7+1		cytoplasmic FMR1 interacting protein 1							104	90	95					15																	22933658		2203	4300	6503	SO:0001630	splice_region_variant	23191				axon extension|lamellipodium assembly|regulation of cell shape|ruffle organization	cell junction|lamellipodium|mRNA cap binding complex|perinuclear region of cytoplasm|ruffle|synapse|synaptosome	actin filament binding|Rac GTPase binding	g.chr15:22933658G>T	D38549	CCDS73695.1, CCDS73696.1	15q11	2008-07-18			ENSG00000068793	ENSG00000273749			13759	protein-coding gene	gene with protein product	"selective hybridizing clone", "cytoplasmic FMRP interacting protein 1"	606322				11438699	Standard	XM_005272543		Approved	KIAA0068, P140SRA-1, SHYC	uc001yus.3	Q7L576	OTTHUMG00000129100	ENST00000313077.7:c.666+1G>T	15.37:g.22933658G>T						CYFIP1_ENST00000560848.1_Splice_Site		NM_014608.2	NP_055423.1	Q7L576	CYFP1_HUMAN		all cancers(64;2.22e-06)|Epithelial(43;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00101)	7	791	+		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)							Splice_Site	SNP	ENST00000313077.7	37		CCDS10009.1	.	.	.	.	.	.	.	.	.	.	G	14.03	2.414946	0.42817	.	.	ENSG00000068793	ENST00000313077;ENST00000412127	.	.	.	5.94	5.02	0.67125	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.4843	0.84180	0.0:0.0:0.8679:0.1321	.	.	.	.	.	-1	.	.	.	+	.	.	CYFIP1	20485099	1.000000	0.71417	0.186000	0.23195	0.210000	0.24377	9.705000	0.98719	1.498000	0.48600	0.650000	0.86243	.		0.537	CYFIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251136.2	NM_014608	Intron	4	65	1	0	1	1	1	4	65					T	22933658	G	T	22933658	5	4	274	1	0	0	0	0	0	0	1	0	4137	1275	44	5	689	5	CYFIP1	15	22933658	Splice_Site	SNP	G	TCGA-J4-A6G3-01A-11D-A30X-08		22933658	79597734	26	12713											
SPOP	8405	broad.mit.edu	37	chr17	47696426	47696426	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tctacggatgaatttcttgaAtccccagtctttgccttgca	8	15	7	11	1	3	2	0	2	3	0	4	3	4	3	3	1	3	1	3	1	3	5			TCGA-J4-A6G3-01A-11D-A30X-08	TCGA-J4-A6G3-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68b542b2-f763-47c4-9df4-3f92060c8495	5f191346-ea91-4227-861e-18f4cd4ecc5f	g.chr17:47696426A>C	ENST00000393328.2	-	6	762	c.397T>G	c.(397-399)Ttc>Gtc	p.F133V	SPOP_ENST00000513080.1_5'Flank|SPOP_ENST00000504102.1_Missense_Mutation_p.F133V|SPOP_ENST00000347630.2_Missense_Mutation_p.F133V|SPOP_ENST00000503676.1_Missense_Mutation_p.F133V|SPOP_ENST00000393331.3_Missense_Mutation_p.F133V	NM_003563.3	NP_003554.1	O43791	SPOP_HUMAN	speckle-type POZ protein	133	Important for binding substrate proteins.|MATH. {ECO:0000255|PROSITE- ProRule:PRU00129}.|Required for nuclear localization.				glucose homeostasis (GO:0042593)|positive regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902237)|positive regulation of type B pancreatic cell apoptotic process (GO:2000676)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	Cul3-RING ubiquitin ligase complex (GO:0031463)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	ubiquitin protein ligase binding (GO:0031625)	p.F133V(4)		endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						AATTTCTTGAATCCCCAGTCT	0.448										Prostate(2;0.17)																												ENST00000393331.3																			4	Substitution - Missense(4)	p.F133V(4)	prostate(4)	endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						c.(397-399)Ttc>Gtc		speckle-type POZ protein							119	121	120					17																	47696426		2203	4300	6503	SO:0001583	missense	8405				mRNA processing	nucleus	protein binding	g.chr17:47696426A>C	AJ000644	CCDS11551.1	17q21.33	2013-01-09			ENSG00000121067	ENSG00000121067		"BTB/POZ domain containing"	11254	protein-coding gene	gene with protein product		602650				9414087	Standard	NM_001007227		Approved	TEF2, BTBD32	uc002ipg.3	O43791	OTTHUMG00000161496	ENST00000393328.2:c.397T>G	17.37:g.47696426A>C	ENSP00000377001:p.Phe133Val	Prostate(2;0.17)				SPOP_ENST00000504102.1_Missense_Mutation_p.F133V|SPOP_ENST00000503676.1_Missense_Mutation_p.F133V|SPOP_ENST00000393328.2_Missense_Mutation_p.F133V|SPOP_ENST00000347630.2_Missense_Mutation_p.F133V	p.F133V	NM_001007226.1|NM_001007227.1	NP_001007227.1|NP_001007228.1	O43791	SPOP_HUMAN			7	867	-			133			MATH.|Required for nuclear localization.		B2R6S3|D3DTW7|Q53HJ1	Missense_Mutation	SNP	ENST00000393328.2	37	c.397T>G	CCDS11551.1	.	.	.	.	.	.	.	.	.	.	A	24.6	4.550963	0.86127	.	.	ENSG00000121067	ENST00000393328;ENST00000393331;ENST00000347630;ENST00000504102;ENST00000503536;ENST00000503676;ENST00000513872;ENST00000509079;ENST00000505581;ENST00000507970;ENST00000514121	T;T;T;T;T;T;T;T;T	0.42513	0.97;0.97;0.97;0.97;0.97;0.97;0.97;0.97;0.97	5.41	5.41	0.78517	TRAF-type (1);TRAF-like (1);MATH (3);	0.000000	0.85682	D	0.000000	T	0.68632	0.3022	M	0.94021	3.485	0.80722	D	1	P	0.35155	0.487	P	0.49637	0.617	T	0.74861	-0.3520	10	0.66056	D	0.02	-9.6576	15.258	0.73599	1.0:0.0:0.0:0.0	.	133	O43791	SPOP_HUMAN	V	133;133;133;133;17;133;86;133;133;133;133	ENSP00000377001:F133V;ENSP00000377004:F133V;ENSP00000240327:F133V;ENSP00000425905:F133V;ENSP00000420908:F133V;ENSP00000426986:F133V;ENSP00000420960:F133V;ENSP00000426262:F133V;ENSP00000424119:F133V	ENSP00000240327:F133V	F	-	1	0	SPOP	45051425	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.131000	0.94446	2.261000	0.74972	0.460000	0.39030	TTC		0.448	SPOP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365154.2	NM_003563		11	105	0	0	0	1	0	11	105					C	47696426	A	C	47696426	3	2	274	1	0	0	0	0	1	0	0	0	15083	101	4	5	751	5	SPOP	17	47696426	Missense_Mutation	SNP	A	TCGA-J4-A6G3-01A-11D-A30X-08		47696426	33498784	27	12714											
AXIN2	8313	broad.mit.edu	37	chr17	63554729	63554729	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gaggcaagtcaccaacatagCgctactcatggtgagggagc	12	6	13	10	1	2	1	2	1	0	0	2	3	2	2	1	3	4	2	1	3	4	2			TCGA-J4-A6G3-01A-11D-A30X-08	TCGA-J4-A6G3-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68b542b2-f763-47c4-9df4-3f92060c8495	5f191346-ea91-4227-861e-18f4cd4ecc5f	g.chr17:63554729C>A	ENST00000375702.5	-	1	118	c.10G>T	c.(10-12)Gct>Tct	p.A4S	AXIN2_ENST00000307078.5_Missense_Mutation_p.A4S|CTD-2535L24.2_ENST00000577662.1_3'UTR			Q9Y2T1	AXIN2_HUMAN	axin 2	4					bone mineralization (GO:0030282)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to organic cyclic compound (GO:0071407)|chondrocyte differentiation involved in endochondral bone morphogenesis (GO:0003413)|dorsal/ventral axis specification (GO:0009950)|intramembranous ossification (GO:0001957)|maintenance of DNA repeat elements (GO:0043570)|mRNA stabilization (GO:0048255)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catenin import into nucleus (GO:0035414)|negative regulation of cell proliferation (GO:0008285)|negative regulation of osteoblast differentiation (GO:0045668)|odontogenesis (GO:0042476)|positive regulation of cell death (GO:0010942)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein phosphorylation (GO:0001934)|regulation of centromeric sister chromatid cohesion (GO:0070602)|regulation of chondrocyte development (GO:0061181)|regulation of mismatch repair (GO:0032423)|secondary heart field specification (GO:0003139)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|Wnt signaling pathway involved in somitogenesis (GO:0090244)	beta-catenin destruction complex (GO:0030877)|cell cortex (GO:0005938)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoplasmic microtubule (GO:0005881)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	armadillo repeat domain binding (GO:0070016)|beta-catenin binding (GO:0008013)|enzyme binding (GO:0019899)|GTPase activator activity (GO:0005096)|protein kinase binding (GO:0019901)|ubiquitin protein ligase binding (GO:0031625)			NS(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	34						ACCAACATAGCGCTACTCATG	0.592									Oligodontia, Ectodermal Dysplasia and Colorectal Polyp syndrome																													ENST00000307078.5																			0				NS(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	34						c.(10-12)Gct>Tct		axin 2							23	27	26					17																	63554729		2200	4294	6494	SO:0001583	missense	8313	Oligodontia, Ectodermal Dysplasia and Colorectal Polyp syndrome	Familial Cancer Database	Oligodontia-Colorectal Cancer syndrome, Tooth Agenesis-Colorectal Cancer Syndrome	cellular protein localization|cellular response to organic cyclic compound|dorsal/ventral axis specification|intramembranous ossification|maintenance of DNA repeat elements|mRNA stabilization|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of cell proliferation|negative regulation of osteoblast differentiation|odontogenesis|positive regulation of cell death|positive regulation of epithelial to mesenchymal transition|positive regulation of protein phosphorylation|regulation of centromeric sister chromatid cohesion|regulation of mismatch repair|Wnt receptor signaling pathway involved in somitogenesis	Axin-APC-beta-catenin-GSK3B complex|cell cortex|centrosome|cytoplasmic membrane-bounded vesicle|cytoplasmic microtubule|nucleus|plasma membrane|postsynaptic density	armadillo repeat domain binding|beta-catenin binding|GTPase activator activity|protein kinase binding|signal transducer activity|ubiquitin protein ligase binding	g.chr17:63554729C>A	AF078165	CCDS11662.1	17q24.1	2014-09-17	2008-08-01		ENSG00000168646				904	protein-coding gene	gene with protein product	"conductin", "axil"	604025				10049590	Standard	NM_004655		Approved	MGC126582, DKFZp781B0869	uc002jfi.3	Q9Y2T1	OTTHUMG00000179353	ENST00000375702.5:c.10G>T	17.37:g.63554729C>A	ENSP00000364854:p.Ala4Ser					AXIN2_ENST00000375702.5_Missense_Mutation_p.A4S|CTD-2535L24.2_ENST00000577662.1_3'UTR	p.A4S	NM_004655.3	NP_004646.3	Q9Y2T1	AXIN2_HUMAN			2	323	-			4					Q3MJ88|Q9H3M6|Q9UH84	Missense_Mutation	SNP	ENST00000375702.5	37	c.10G>T		.	.	.	.	.	.	.	.	.	.	C	9.740	1.164525	0.21538	.	.	ENSG00000168646	ENST00000307078;ENST00000544103;ENST00000375702	T;T;T	0.78364	-0.21;-1.17;-0.22	4.61	2.62	0.31277	.	0.259107	0.28964	N	0.013574	T	0.62392	0.2424	L	0.32530	0.975	0.28610	N	0.908701	B;B;B	0.22909	0.077;0.008;0.077	B;B;B	0.17098	0.017;0.016;0.017	T	0.53837	-0.8382	10	0.44086	T	0.13	-4.4115	5.1076	0.14793	0.1643:0.657:0.0:0.1788	.	4;4;4	B7ZKL5;Q9Y2T1;E7ES00	.;AXIN2_HUMAN;.	S	4	ENSP00000302625:A4S;ENSP00000441151:A4S;ENSP00000364854:A4S	ENSP00000302625:A4S	A	-	1	0	AXIN2	60985191	1.000000	0.71417	0.006000	0.13384	0.882000	0.50991	3.331000	0.52075	0.385000	0.24970	0.462000	0.41574	GCT		0.592	AXIN2-004	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000445901.1	NM_004655		3	35	1	0	0.004672	1	0.00488436	3	35					A	63554729	C	A	63554729	3	1	274	1	0	0	0	0	1	0	0	0	1237	768	27	5	2561	5	AXIN2	17	63554729	Missense_Mutation	SNP	C	TCGA-J4-A6G3-01A-11D-A30X-08	15858303	63554729	17640481	28	12715											
RAB37	326624	broad.mit.edu	37	chr17	72736966	72736966	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcctgatccaattcaaagaCggggccttcctgtccggaac	9	10	9	13	2	1	2	1	1	0	1	5	3	5	3	5	3	1	0	5	3	3	3	rs530556816		TCGA-J4-A6G3-01A-11D-A30X-08	TCGA-J4-A6G3-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68b542b2-f763-47c4-9df4-3f92060c8495	5f191346-ea91-4227-861e-18f4cd4ecc5f	g.chr17:72736966C>T	ENST00000392613.5	+	2	209	c.153C>T	c.(151-153)gaC>gaT	p.D51D	RAB37_ENST00000392615.5_Intron|RAB37_ENST00000528438.1_Silent_p.D24D|RAB37_ENST00000392610.1_Silent_p.D51D|RAB37_ENST00000392612.3_Intron|RAB37_ENST00000402449.4_Intron|RAB37_ENST00000392614.4_Silent_p.D56D|RAB37_ENST00000340415.3_Intron	NM_001006638.2	NP_001006639.1	Q96AX2	RAB37_HUMAN	RAB37, member RAS oncogene family	51					protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|secretory granule (GO:0030141)	GTP binding (GO:0005525)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	12						AATTCAAAGACGGGGCCTTCC	0.587																																						ENST00000392610.1																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	12						c.(151-153)gaC>gaT		RAB37, member RAS oncogene family							140	139	139					17																	72736966		2203	4300	6503	SO:0001819	synonymous_variant	326624				protein transport|small GTPase mediated signal transduction	ER-Golgi intermediate compartment	GTP binding	g.chr17:72736966C>T	BC040547	CCDS11703.1, CCDS32722.1, CCDS54161.1, CCDS54162.1	17q25.2	2008-02-05			ENSG00000172794	ENSG00000172794		"RAB, member RAS oncogene"	30268	protein-coding gene	gene with protein product		609956				10722846	Standard	NM_175738		Approved		uc002jlk.3	Q96AX2	OTTHUMG00000134282	ENST00000392613.5:c.153C>T	17.37:g.72736966C>T						RAB37_ENST00000392613.5_Silent_p.D51D|RAB37_ENST00000402449.4_Intron|RAB37_ENST00000392612.3_Intron|RAB37_ENST00000528438.1_Silent_p.D24D|RAB37_ENST00000392614.4_Silent_p.D56D|RAB37_ENST00000392615.5_Intron|RAB37_ENST00000340415.3_Intron	p.D51D			Q96AX2	RAB37_HUMAN			2	194	+			51					A8MXF5|A8MYT0|Q8IWA7	Silent	SNP	ENST00000392613.5	37	c.153C>T	CCDS32722.1																																																																																				0.587	RAB37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258872.2	NM_175738		18	190	0	0	0	1	0	18	190					T	72736966	C	T	72736966	2	4	274	1	0	0	0	0	0	0	0	1	12927	535	19	1		1	RAB37	17	72736966	Silent	SNP	C	TCGA-J4-A6G3-01A-11D-A30X-08	9182237	72736966	8458244	29	12716											
PLCB1	23236	broad.mit.edu	37	chr20	8639228	8639228	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ttaccgttgatcagatgatgGattttatcaaccttaagcag	12	14	8	7	1	2	3	2	2	0	1	2	4	2	4	2	1	3	2	2	1	4	5			TCGA-J4-A6G3-01A-11D-A30X-08	TCGA-J4-A6G3-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68b542b2-f763-47c4-9df4-3f92060c8495	5f191346-ea91-4227-861e-18f4cd4ecc5f	g.chr20:8639228G>A	ENST00000338037.6	+	9	766	c.739G>A	c.(739-741)Gat>Aat	p.D247N	PLCB1_ENST00000378637.2_Missense_Mutation_p.D247N|PLCB1_ENST00000378641.3_Missense_Mutation_p.D247N	NM_015192.2	NP_056007.1	Q9NQ66	PLCB1_HUMAN	phospholipase C, beta 1 (phosphoinositide-specific)	247					activation of meiosis involved in egg activation (GO:0060466)|cerebral cortex development (GO:0021987)|fat cell differentiation (GO:0045444)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|G2/M transition of mitotic cell cycle (GO:0000086)|glutamate receptor signaling pathway (GO:0007215)|inositol phosphate metabolic process (GO:0043647)|insulin-like growth factor receptor signaling pathway (GO:0048009)|interleukin-1-mediated signaling pathway (GO:0070498)|interleukin-12-mediated signaling pathway (GO:0035722)|interleukin-15-mediated signaling pathway (GO:0035723)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|memory (GO:0007613)|negative regulation of monocyte extravasation (GO:2000438)|negative regulation of transcription, DNA-templated (GO:0045892)|phosphatidylinositol metabolic process (GO:0046488)|positive regulation of acrosome reaction (GO:2000344)|positive regulation of CD24 biosynthetic process (GO:2000560)|positive regulation of developmental growth (GO:0048639)|positive regulation of embryonic development (GO:0040019)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of GTPase activity (GO:0043547)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of JNK cascade (GO:0046330)|positive regulation of myoblast differentiation (GO:0045663)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of fertilization (GO:0080154)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|GTPase activator activity (GO:0005096)|phosphatidylinositol phospholipase C activity (GO:0004435)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein homodimerization activity (GO:0042803)|signal transducer activity (GO:0004871)			NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						TCAGATGATGGATTTTATCAA	0.333																																						ENST00000378641.3																			0				NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						c.(739-741)Gat>Aat		phospholipase C, beta 1 (phosphoinositide-specific)							106	102	104					20																	8639228		2203	4300	6503	SO:0001583	missense	23236				activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission	cytosol|nuclear chromatin|nuclear speck	calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity	g.chr20:8639228G>A	AB011153	CCDS13102.1, CCDS13103.1	20p12	2008-03-18			ENSG00000182621	ENSG00000182621	3.1.4.11		15917	protein-coding gene	gene with protein product		607120				10760467, 11118617	Standard	NM_015192		Approved	KIAA0581, PLC-I, PLC154	uc002wnb.4	Q9NQ66	OTTHUMG00000031849	ENST00000338037.6:c.739G>A	20.37:g.8639228G>A	ENSP00000338185:p.Asp247Asn					PLCB1_ENST00000378637.2_Missense_Mutation_p.D247N|PLCB1_ENST00000338037.6_Missense_Mutation_p.D247N	p.D247N	NM_182734.1	NP_877398.1	Q9NQ66	PLCB1_HUMAN			9	1214	+			247					D3DW12|D3DW13|O60325|Q17RQ6|Q5TFF7|Q5TGC9|Q8IV93|Q9BQW2|Q9H4H2|Q9H8H5|Q9NQ65|Q9NQH9|Q9NTH4|Q9UJP6|Q9UM26	Missense_Mutation	SNP	ENST00000338037.6	37	c.739G>A	CCDS13102.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.391924	0.83011	.	.	ENSG00000182621	ENST00000378641;ENST00000338037;ENST00000378637;ENST00000441163;ENST00000535719	T;T;T	0.17528	2.27;2.27;2.27	5.95	5.95	0.96441	Phospholipase C, phosphoinositol-specific, EF-hand-like (1);EF-hand-like domain (1);	0.044614	0.85682	D	0.000000	T	0.19208	0.0461	N	0.25201	0.72	0.53005	D	0.999964	B;P	0.45176	0.063;0.852	B;P	0.45753	0.044;0.492	T	0.00653	-1.1625	10	0.37606	T	0.19	.	20.3921	0.98947	0.0:0.0:1.0:0.0	.	247;247	Q9NQ66;Q9NQ66-2	PLCB1_HUMAN;.	N	247;247;247;167;167	ENSP00000367908:D247N;ENSP00000338185:D247N;ENSP00000367904:D247N	ENSP00000338185:D247N	D	+	1	0	PLCB1	8587228	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.751000	0.98889	2.822000	0.97130	0.650000	0.86243	GAT		0.333	PLCB1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077938.3			9	48	0	0	0	1	0	9	48					A	8639228	G	A	8639228	3	1	274	1	0	0	0	0	1	0	0	0	12027	1174	41	3	773	3	PLCB1	20	8639228	Missense_Mutation	SNP	G	TCGA-J4-A6G3-01A-11D-A30X-08		8639228	54386292	30	12717											
SMARCA1	6594	broad.mit.edu	37	chrX	128599496	128599496	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cggtaagaaaggaatacataCcatggcagtcctagacttga	15	8	10	8	1	0	3	0	1	0	2	1	4	1	4	2	3	2	2	2	3	6	5			TCGA-J4-A6G3-01A-11D-A30X-08	TCGA-J4-A6G3-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68b542b2-f763-47c4-9df4-3f92060c8495	5f191346-ea91-4227-861e-18f4cd4ecc5f	g.chrX:128599496C>T	ENST00000371122.4	-	23	3160		c.e23+1		SMARCA1_ENST00000371123.1_Splice_Site|SMARCA1_ENST00000371121.3_Splice_Site	NM_003069.3	NP_003060.2	P28370	SMCA1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1						ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|brain development (GO:0007420)|chromatin remodeling (GO:0006338)|DNA strand renaturation (GO:0000733)|neuron differentiation (GO:0030182)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of neural precursor cell proliferation (GO:2000177)|transcription, DNA-templated (GO:0006351)	CERF complex (GO:0090537)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|NURF complex (GO:0016589)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(13)|ovary(5)|prostate(1)|skin(1)	45						GGAATACATACCATGGCAGTC	0.353																																						ENST00000371122.4																			0				biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(13)|ovary(5)|prostate(1)|skin(1)	45						c.e23+1		SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1							144	130	135					X																	128599496		2203	4300	6503	SO:0001630	splice_region_variant	6594				ATP-dependent chromatin remodeling|brain development|neuron differentiation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	NURF complex	ATP binding|DNA binding|helicase activity|nucleosome binding|protein binding	g.chrX:128599496C>T	M88163	CCDS14612.1, CCDS76018.1, CCDS76019.1	Xq25	2008-02-05			ENSG00000102038	ENSG00000102038			11097	protein-coding gene	gene with protein product		300012		SNF2L1, SNF2L		1408766, 14609955	Standard	XM_005262461		Approved	SNF2LB, NURF140, ISWI, SWI	uc004eun.4	P28370	OTTHUMG00000022370	ENST00000371122.4:c.3030+1G>A	X.37:g.128599496C>T						SMARCA1_ENST00000371123.1_Splice_Site|SMARCA1_ENST00000371121.3_Splice_Site		NM_003069.3	NP_003060.2	P28370	SMCA1_HUMAN			23	3160	-								Q5JV41|Q5JV42	Splice_Site	SNP	ENST00000371122.4	37		CCDS14612.1	.	.	.	.	.	.	.	.	.	.	C	25.0	4.596193	0.86953	.	.	ENSG00000102038	ENST00000371121;ENST00000371123;ENST00000371122;ENST00000450039	.	.	.	5.63	5.63	0.86233	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.6879	0.91571	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SMARCA1	128427177	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	7.769000	0.85360	2.358000	0.79984	0.538000	0.68166	.		0.353	SMARCA1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058206.1	NM_003069	Intron	12	38	0	0	0	1	0	12	38					T	128599496	C	T	128599496	5	4	274	1	0	0	0	0	0	0	1	0	14768	521	18	3	141	3	SMARCA1	23	128599496	Splice_Site	SNP	C	TCGA-J4-A6G3-01A-11D-A30X-08		128599496	26671064	31	12718											
ALX3	257	broad.mit.edu	37	chr1	110604148	110604148	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggatcttcccataacgctcgCgcttccgccacttggctctg	5	11	9	16	4	2	0	0	0	2	0	5	1	4	1	3	2	1	3	3	2	1	4			TCGA-J4-A6M7-01A-11D-A31L-08	TCGA-J4-A6M7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68eadfba-d2ec-47a5-9ae8-cbbf066962e8	a8d17ab3-05e9-4f09-a76b-c5740ee14f41	g.chr1:110604148C>T	ENST00000369792.4	-	3	719	c.632G>A	c.(631-633)cGc>cAc	p.R211H	RP4-773N10.4_ENST00000554749.1_RNA|RP4-773N10.4_ENST00000596959.1_RNA	NM_006492.2	NP_006483.2	O95076	ALX3_HUMAN	ALX homeobox 3	211					embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic skeletal system morphogenesis (GO:0048704)|pattern specification process (GO:0007389)|regulation of apoptotic process (GO:0042981)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	6		all_cancers(81;2.35e-05)|all_epithelial(167;7.69e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.015)|all cancers(265;0.0706)|Epithelial(280;0.0758)|Colorectal(144;0.113)|LUSC - Lung squamous cell carcinoma(189;0.135)		ATAACGCTCGCGCTTCCGCCA	0.622																																						ENST00000369792.4																			0				large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	6						c.(631-633)cGc>cAc		ALX homeobox 3							65	65	65					1																	110604148		2203	4300	6503	SO:0001583	missense	257					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr1:110604148C>T	AF008203	CCDS819.1	1p13.3	2014-02-04	2008-11-04		ENSG00000156150	ENSG00000156150		"Homeoboxes / PRD class"	449	protein-coding gene	gene with protein product		606014	"aristaless-like homeobox 3", "frontonasal dysplasia"	FND		15226305, 11807986, 19409524	Standard	NM_006492		Approved		uc001dzb.3	O95076	OTTHUMG00000011650	ENST00000369792.4:c.632G>A	1.37:g.110604148C>T	ENSP00000358807:p.Arg211His					RP4-773N10.4_ENST00000554749.1_RNA	p.R211H	NM_006492.2	NP_006483.2	O95076	ALX3_HUMAN		Lung(183;0.015)|all cancers(265;0.0706)|Epithelial(280;0.0758)|Colorectal(144;0.113)|LUSC - Lung squamous cell carcinoma(189;0.135)	3	719	-		all_cancers(81;2.35e-05)|all_epithelial(167;7.69e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)	211					O95075|Q5T8M4	Missense_Mutation	SNP	ENST00000369792.4	37	c.632G>A	CCDS819.1	.	.	.	.	.	.	.	.	.	.	C	24.0	4.484194	0.84854	.	.	ENSG00000156150	ENST00000369792	D	0.95853	-3.83	4.98	4.98	0.66077	Homeodomain-related (1);Homeobox (2);Homeodomain-like (1);	0.000000	0.64402	D	0.000001	D	0.97461	0.9169	M	0.80183	2.485	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.98316	1.0526	10	0.87932	D	0	.	16.8274	0.85935	0.0:1.0:0.0:0.0	.	211	O95076	ALX3_HUMAN	H	211	ENSP00000358807:R211H	ENSP00000358807:R211H	R	-	2	0	ALX3	110405671	1.000000	0.71417	0.939000	0.37840	0.971000	0.66376	7.794000	0.85869	2.333000	0.79357	0.655000	0.94253	CGC		0.622	ALX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032232.2	NM_006492		23	42	0	0	0	1	0	23	42					T	110604148	C	T	110604148	3	4	275	1	0	0	0	0	1	0	0	0	557	768	27	1	407	1	ALX3	1	110604148	Missense_Mutation	SNP	C	TCGA-J4-A6M7-01A-11D-A31L-08		110604148	138646473	1	12719											
LRIG2	9860	broad.mit.edu	37	chr1	113658960	113658960	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctacttgtcttcccaaggaaCgctgtctgagccacaggaag	10	9	10	12	1	2	1	0	1	2	0	3	3	3	3	2	2	3	1	2	2	4	3	rs371835362		TCGA-J4-A6M7-01A-11D-A31L-08	TCGA-J4-A6M7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68eadfba-d2ec-47a5-9ae8-cbbf066962e8	a8d17ab3-05e9-4f09-a76b-c5740ee14f41	g.chr1:113658960C>T	ENST00000361127.5	+	16	2780	c.2582C>T	c.(2581-2583)aCg>aTg	p.T861M	LRIG2_ENST00000492207.1_3'UTR	NM_014813.1	NP_055628.1	O94898	LRIG2_HUMAN	leucine-rich repeats and immunoglobulin-like domains 2	861					innervation (GO:0060384)|regulation of platelet-derived growth factor receptor signaling pathway (GO:0010640)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(10)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1)	31	Lung SC(450;0.246)	all_cancers(81;1.56e-05)|all_epithelial(167;2.62e-05)|all_lung(203;0.000665)|Lung NSC(69;0.000986)		Lung(183;0.0279)|Colorectal(144;0.0885)|COAD - Colon adenocarcinoma(174;0.134)|all cancers(265;0.139)|Epithelial(280;0.143)|LUSC - Lung squamous cell carcinoma(189;0.15)		TCCCAAGGAACGCTGTCTGAG	0.488																																						ENST00000361127.4																			0				breast(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(10)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1)	31						c.(2581-2583)aCg>aTg		leucine-rich repeats and immunoglobulin-like domains 2		C	MET/THR	1,4405	2.1+/-5.4	0,1,2202	81	74	76		2582	5.9	1	1		76	0,8600		0,0,4300	no	missense	LRIG2	NM_014813.1	81	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	861/1066	113658960	1,13005	2203	4300	6503	SO:0001583	missense	9860					cytoplasm|integral to membrane|plasma membrane		g.chr1:113658960C>T	AB018349	CCDS30808.1	1p13.1	2013-01-11			ENSG00000198799	ENSG00000198799		"Immunoglobulin superfamily / I-set domain containing"	20889	protein-coding gene	gene with protein product		608869					Standard	XM_005271369		Approved	KIAA0806	uc001edf.1	O94898	OTTHUMG00000012133	ENST00000361127.5:c.2582C>T	1.37:g.113658960C>T	ENSP00000355396:p.Thr861Met					LRIG2_ENST00000492207.1_3'UTR	p.T861M	NM_014813.1	NP_055628.1	O94898	LRIG2_HUMAN		Lung(183;0.0279)|Colorectal(144;0.0885)|COAD - Colon adenocarcinoma(174;0.134)|all cancers(265;0.139)|Epithelial(280;0.143)|LUSC - Lung squamous cell carcinoma(189;0.15)	16	2780	+	Lung SC(450;0.246)	all_cancers(81;1.56e-05)|all_epithelial(167;2.62e-05)|all_lung(203;0.000665)|Lung NSC(69;0.000986)	861					Q9NSN2	Missense_Mutation	SNP	ENST00000361127.5	37	c.2582C>T	CCDS30808.1	.	.	.	.	.	.	.	.	.	.	C	31	5.104072	0.94245	2.27E-4	0.0	ENSG00000198799	ENST00000361127	T	0.63255	-0.03	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	T	0.79137	0.4395	M	0.80616	2.505	0.58432	D	0.999999	D	0.89917	1.0	D	0.78314	0.991	T	0.80261	-0.1456	10	0.87932	D	0	.	20.3207	0.98668	0.0:1.0:0.0:0.0	.	861	O94898	LRIG2_HUMAN	M	861	ENSP00000355396:T861M	ENSP00000355396:T861M	T	+	2	0	LRIG2	113460483	1.000000	0.71417	0.994000	0.49952	0.987000	0.75469	7.818000	0.86416	2.813000	0.96785	0.561000	0.74099	ACG		0.488	LRIG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033549.2	NM_014813		14	18	0	0	0	1	0	14	18					T	113658960	C	T	113658960	3	4	275	1	0	0	0	0	1	0	0	0	8945	536	19	1	2644	1	LRIG2	1	113658960	Missense_Mutation	SNP	C	TCGA-J4-A6M7-01A-11D-A31L-08	3054812	113658960	135591661	2	12720											
PTPRC	5788	broad.mit.edu	37	chr1	198721481	198721481	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aacttatacccttcgtgtctTtgaactgagacattccaagg	11	13	7	10	1	1	2	0	2	1	1	3	3	2	2	2	1	3	0	2	1	5	5			TCGA-J4-A6M7-01A-11D-A31L-08	TCGA-J4-A6M7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68eadfba-d2ec-47a5-9ae8-cbbf066962e8	a8d17ab3-05e9-4f09-a76b-c5740ee14f41	g.chr1:198721481T>C	ENST00000367376.2	+	30	3476	c.3305T>C	c.(3304-3306)tTt>tCt	p.F1102S	PTPRC_ENST00000352140.3_Missense_Mutation_p.F1054S|PTPRC_ENST00000348564.6_Missense_Mutation_p.F943S|PTPRC_ENST00000594404.1_Missense_Mutation_p.F941S|PTPRC_ENST00000442510.2_Missense_Mutation_p.F1104S	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	1102	Tyrosine-protein phosphatase 2. {ECO:0000255|PROSITE-ProRule:PRU00160}.				axon guidance (GO:0007411)|B cell proliferation (GO:0042100)|B cell receptor signaling pathway (GO:0050853)|bone marrow development (GO:0048539)|cell cycle phase transition (GO:0044770)|cell surface receptor signaling pathway (GO:0007166)|defense response to virus (GO:0051607)|dephosphorylation (GO:0016311)|hematopoietic progenitor cell differentiation (GO:0002244)|immunoglobulin biosynthetic process (GO:0002378)|negative regulation of cell adhesion involved in substrate-bound cell migration (GO:0006933)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of T cell mediated cytotoxicity (GO:0001915)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of antigen receptor-mediated signaling pathway (GO:0050857)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of hematopoietic stem cell migration (GO:2000473)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of stem cell proliferation (GO:2000648)|positive regulation of T cell proliferation (GO:0042102)|protein dephosphorylation (GO:0006470)|regulation of cell cycle (GO:0051726)|release of sequestered calcium ion into cytosol (GO:0051209)|stem cell development (GO:0048864)|T cell differentiation (GO:0030217)|T cell receptor signaling pathway (GO:0050852)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						CTTCGTGTCTTTGAACTGAGA	0.373																																						ENST00000367376.2																			0				breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						c.(3304-3306)tTt>tCt		protein tyrosine phosphatase, receptor type, C							105	99	101					1																	198721481		2203	4300	6503	SO:0001583	missense	5788				axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway	focal adhesion|integral to plasma membrane|membrane raft	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr1:198721481T>C	Y00062	CCDS1397.1, CCDS1398.1, CCDS44291.1, CCDS1397.2, CCDS1398.2, CCDS44291.2	1q31-q32	2014-09-17			ENSG00000081237	ENSG00000081237		"CD molecules", "Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Fibronectin type III domain containing"	9666	protein-coding gene	gene with protein product		151460		CD45		2169617	Standard	NM_001267798		Approved	LCA, T200, GP180	uc001gur.2	P08575	OTTHUMG00000035702	ENST00000367376.2:c.3305T>C	1.37:g.198721481T>C	ENSP00000356346:p.Phe1102Ser					PTPRC_ENST00000442510.2_Missense_Mutation_p.F1104S|PTPRC_ENST00000352140.3_Missense_Mutation_p.F1054S|PTPRC_ENST00000348564.6_Missense_Mutation_p.F943S|PTPRC_ENST00000594404.1_Missense_Mutation_p.F941S	p.F1102S	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN			30	3476	+			1102			Tyrosine-protein phosphatase 2.		A8K7W6|Q16614|Q9H0Y6	Missense_Mutation	SNP	ENST00000367376.2	37	c.3305T>C		.	.	.	.	.	.	.	.	.	.	T	24.0	4.486089	0.84854	.	.	ENSG00000081237	ENST00000367376;ENST00000352140;ENST00000442510;ENST00000348564	T	0.16324	2.35	5.92	5.92	0.95590	Protein-tyrosine phosphatase, receptor/non-receptor type (3);	0.000000	0.48286	D	0.000189	T	0.59715	0.2214	H	0.97783	4.075	0.54753	D	0.999987	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.79784	0.984;0.993;0.984	T	0.76143	-0.3067	10	0.87932	D	0	.	16.0396	0.80654	0.0:0.0:0.0:1.0	.	943;1054;1102	B1ALS3;E9PC28;P08575	.;.;PTPRC_HUMAN	S	1104;1054;1102;941	ENSP00000193532:F1054S	ENSP00000306782:F941S	F	+	2	0	PTPRC	196988104	1.000000	0.71417	0.981000	0.43875	0.915000	0.54546	6.697000	0.74603	2.277000	0.76020	0.528000	0.53228	TTT		0.373	PTPRC-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding				16	26	0	0	0	1	0	16	26					C	198721481	T	C	198721481	3	2	275	1	0	0	0	0	1	0	0	0	12797	1841	64	4	3430	4	PTPRC	1	198721481	Missense_Mutation	SNP	T	TCGA-J4-A6M7-01A-11D-A31L-08	85062521	198721481	50529140	3	12721											
OTOF	9381	broad.mit.edu	37	chr2	26696866	26696866	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agagccctcgcacctccactCggtacttgctgagcacgggc	7	7	11	16	3	0	2	0	1	0	1	3	2	1	2	3	2	4	4	3	2	1	2	rs397517943		TCGA-J4-A6M7-01A-11D-A31L-08	TCGA-J4-A6M7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68eadfba-d2ec-47a5-9ae8-cbbf066962e8	a8d17ab3-05e9-4f09-a76b-c5740ee14f41	g.chr2:26696866C>T	ENST00000272371.2	-	27	3527	c.3401G>A	c.(3400-3402)cGa>cAa	p.R1134Q	OTOF_ENST00000403946.3_Missense_Mutation_p.R1134Q|OTOF_ENST00000338581.6_Missense_Mutation_p.R387Q|OTOF_ENST00000402415.3_Missense_Mutation_p.R444Q|OTOF_ENST00000339598.3_Missense_Mutation_p.R387Q	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN	otoferlin	1134					membrane fusion (GO:0061025)|sensory perception of sound (GO:0007605)|synaptic vesicle exocytosis (GO:0016079)	cell junction (GO:0030054)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synaptic vesicle membrane (GO:0030672)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CACCTCCACTCGGTACTTGCT	0.647																																					GBM(102;732 1451 20652 24062 31372)	ENST00000272371.2																			0				NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106						c.(3400-3402)cGa>cAa		otoferlin							55	57	56					2																	26696866		2203	4298	6501	SO:0001583	missense	9381				cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis	basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane	calcium ion binding	g.chr2:26696866C>T	AF107403	CCDS1724.1, CCDS1725.1, CCDS1726.1, CCDS46241.1, CCDS74497.1	2p23.1	2014-06-27			ENSG00000115155	ENSG00000115155			8515	protein-coding gene	gene with protein product	"fer-1-like family member 2"	603681		DFNB9		10192385, 18381613	Standard	NM_194248		Approved	FER1L2, DFNB6	uc002rhk.3	Q9HC10	OTTHUMG00000096977	ENST00000272371.2:c.3401G>A	2.37:g.26696866C>T	ENSP00000272371:p.Arg1134Gln					OTOF_ENST00000338581.6_Missense_Mutation_p.R387Q|OTOF_ENST00000339598.3_Missense_Mutation_p.R387Q|OTOF_ENST00000403946.3_Missense_Mutation_p.R1134Q|OTOF_ENST00000402415.3_Missense_Mutation_p.R444Q	p.R1134Q	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN			27	3527	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		1134					B4DJX0|B5MCC1|B9A0H6|Q53R90|Q9HC08|Q9HC09|Q9Y650	Missense_Mutation	SNP	ENST00000272371.2	37	c.3401G>A	CCDS1725.1	.	.	.	.	.	.	.	.	.	.	c	28.7	4.940463	0.92526	.	.	ENSG00000115155	ENST00000338581;ENST00000339598;ENST00000402415;ENST00000272371;ENST00000403946	D;D;D;D;D	0.82433	-1.61;-1.61;-1.61;-1.61;-1.61	5.45	4.57	0.56435	C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	D	0.91212	0.7231	M	0.87456	2.885	0.54753	D	0.999982	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.994;0.999;0.999;0.998	D	0.90514	0.4483	10	0.30078	T	0.28	-8.0506	13.9385	0.64041	0.0:0.9259:0.0:0.0741	.	1134;387;444;387	Q9HC10;Q9HC10-2;Q9HC10-3;Q9HC10-4	OTOF_HUMAN;.;.;.	Q	387;387;444;1134;1134	ENSP00000345137:R387Q;ENSP00000344521:R387Q;ENSP00000383906:R444Q;ENSP00000272371:R1134Q;ENSP00000385255:R1134Q	ENSP00000272371:R1134Q	R	-	2	0	OTOF	26550370	1.000000	0.71417	0.807000	0.32361	0.744000	0.42396	5.954000	0.70298	1.317000	0.45149	0.479000	0.44913	CGA		0.647	OTOF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214047.3			30	43	0	0	0	1	0	30	43					T	26696866	C	T	26696866	3	4	275	1	0	0	0	0	1	0	0	0	11303	884	31	2	2857	2	OTOF	2	26696866	Missense_Mutation	SNP	C	TCGA-J4-A6M7-01A-11D-A31L-08		26696866	216502507	4	12722											
GRB14	2888	broad.mit.edu	37	chr2	165365287	165365288	+	Frame_Shift_Ins	INS	-	-	T																															tagttagtcggtgctccatgINStttttttttgcctgccagtg																										TCGA-J4-A6M7-01A-11D-A31L-08	TCGA-J4-A6M7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68eadfba-d2ec-47a5-9ae8-cbbf066962e8	a8d17ab3-05e9-4f09-a76b-c5740ee14f41	g.chr2:165365287_165365288insT	ENST00000263915.3	-	7	1429_1430	c.891_892insA	c.(889-894)aaacatfs	p.H298fs	GRB14_ENST00000543549.1_Frame_Shift_Ins_p.H211fs	NM_004490.2	NP_004481.2	Q14449	GRB14_HUMAN	growth factor receptor-bound protein 14	298	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				blood coagulation (GO:0007596)|leukocyte migration (GO:0050900)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	SH3/SH2 adaptor activity (GO:0005070)	p.K297fs*23(2)		breast(3)|endometrium(2)|large_intestine(6)|lung(10)|ovary(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	32						GGTGCTCCATGTTTTTTTTTGC	0.371																																						ENST00000263915.3																			2	Deletion - Frameshift(2)	p.K297fs*23(2)	ovary(1)|breast(1)	breast(3)|endometrium(2)|large_intestine(6)|lung(10)|ovary(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	32						c.(889-894)aaatggfs		growth factor receptor-bound protein 14																																				SO:0001589	frameshift_variant	2888				blood coagulation|leukocyte migration	cytosol|endosome membrane|Golgi membrane|microsome|plasma membrane	SH3/SH2 adaptor activity	g.chr2:165365287_165365288insT		CCDS2222.1	2q22-q24	2013-02-14			ENSG00000115290	ENSG00000115290		"Pleckstrin homology (PH) domain containing", "SH2 domain containing"	4565	protein-coding gene	gene with protein product		601524				8812444	Standard	XM_005246477		Approved		uc002ucl.3	Q14449	OTTHUMG00000132135	ENST00000263915.3:c.892dupA	2.37:g.165365296_165365296dupT	ENSP00000263915:p.His298fs					GRB14_ENST00000543549.1_Frame_Shift_Ins_p.W211fs	p.W298fs	NM_004490.2	NP_004481.2	Q14449	GRB14_HUMAN			7	1429_1430	-			298			PH.		B7Z7F9|Q7Z6I1	Frame_Shift_Ins	INS	ENST00000263915.3	37	c.891_892insA	CCDS2222.1																																																																																				0.371	GRB14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255180.2			7	126						7	126	---	---	---	---	T	165365288	-	T	165365287	7	5	275	1	0	1	1	0	0	0	0	0	6757	1377	48	0	762	0	GRB14	2	165365287	Frame_Shift_Ins	INS	-	TCGA-J4-A6M7-01A-11D-A31L-08	138668421	165365287	77834086	5	12723											
GRID2	2895	broad.mit.edu	37	chr4	94138039	94138039	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	caacattgtgtgatccaaagGatccatttgctcagaatatg	13	12	8	8	0	1	2	1	1	0	1	3	3	3	3	2	1	2	1	2	1	4	3			TCGA-J4-A6M7-01A-11D-A31L-08	TCGA-J4-A6M7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68eadfba-d2ec-47a5-9ae8-cbbf066962e8	a8d17ab3-05e9-4f09-a76b-c5740ee14f41	g.chr4:94138039G>T	ENST00000282020.4	+	6	1198	c.940G>T	c.(940-942)Gat>Tat	p.D314Y	GRID2_ENST00000505687.1_3'UTR|GRID2_ENST00000510992.1_Missense_Mutation_p.D219Y	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	314					cellular protein localization (GO:0034613)|cerebellar granule cell differentiation (GO:0021707)|glutamate receptor signaling pathway (GO:0007215)|heterophilic cell-cell adhesion (GO:0007157)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|prepulse inhibition (GO:0060134)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of neuron apoptotic process (GO:0043523)|regulation of neuron projection development (GO:0010975)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|ionotropic glutamate receptor complex (GO:0008328)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|ionotropic glutamate receptor activity (GO:0004970)|PDZ domain binding (GO:0030165)|scaffold protein binding (GO:0097110)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)		TGATCCAAAGGATCCATTTGC	0.413																																						ENST00000282020.4																			0				NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100						c.(940-942)Gat>Tat		glutamate receptor, ionotropic, delta 2	L-Glutamic Acid(DB00142)						139	140	140					4																	94138039		2203	4300	6503	SO:0001583	missense	2895				glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity	g.chr4:94138039G>T	AF009014	CCDS3637.1, CCDS68758.1	4q22	2012-08-29			ENSG00000152208	ENSG00000152208		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4576	protein-coding gene	gene with protein product		602368				9465309	Standard	NM_001510		Approved	GluD2, GluR-delta-2	uc011cdt.2	O43424	OTTHUMG00000130975	ENST00000282020.4:c.940G>T	4.37:g.94138039G>T	ENSP00000282020:p.Asp314Tyr					GRID2_ENST00000510992.1_Missense_Mutation_p.D219Y|GRID2_ENST00000505687.1_3'UTR	p.D314Y	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	6	1198	+		Hepatocellular(203;0.114)|all_hematologic(202;0.177)	314					E9PH24|Q4KKU8|Q4KKU9|Q4KKV0|Q59FZ1	Missense_Mutation	SNP	ENST00000282020.4	37	c.940G>T	CCDS3637.1	.	.	.	.	.	.	.	.	.	.	G	18.48	3.633431	0.67015	.	.	ENSG00000152208	ENST00000282020;ENST00000510992	D;D	0.83250	-1.7;-1.7	4.76	3.92	0.45320	Extracellular ligand-binding receptor (1);	0.218432	0.38897	N	0.001522	D	0.82476	0.5045	N	0.22421	0.69	0.50313	D	0.999867	D;D	0.59767	0.986;0.986	P;P	0.61397	0.888;0.888	D	0.83549	0.0100	10	0.59425	D	0.04	.	12.1217	0.53895	0.0839:0.0:0.9161:0.0	.	219;314	E9PH24;O43424	.;GRID2_HUMAN	Y	314;219	ENSP00000282020:D314Y;ENSP00000421257:D219Y	ENSP00000282020:D314Y	D	+	1	0	GRID2	94357062	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	4.092000	0.57707	1.134000	0.42165	0.591000	0.81541	GAT		0.413	GRID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253588.2			50	66	1	0	1.67886e-27	1	2.09857e-27	50	66					T	94138039	G	T	94138039	3	4	275	1	0	0	0	0	1	0	0	0	6772	1174	41	5	962	5	GRID2	4	94138039	Missense_Mutation	SNP	G	TCGA-J4-A6M7-01A-11D-A31L-08		94138039	97016237	6	12724											
PDZD2	23037	broad.mit.edu	37	chr5	32089674	32089674	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggccggtgagtccggcagcGtctaggaacggcatgtccgt	6	7	17	11	5	1	1	0	1	1	0	3	2	3	2	3	5	2	2	3	5	2	1	rs150986745	byFrequency	TCGA-J4-A6M7-01A-11D-A31L-08	TCGA-J4-A6M7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68eadfba-d2ec-47a5-9ae8-cbbf066962e8	a8d17ab3-05e9-4f09-a76b-c5740ee14f41	g.chr5:32089674G>A	ENST00000438447.1	+	20	6508	c.6120G>A	c.(6118-6120)gcG>gcA	p.A2040A	PDZD2_ENST00000282493.3_Silent_p.A2040A			O15018	PDZD2_HUMAN	PDZ domain containing 2	2040					cell adhesion (GO:0007155)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|nucleus (GO:0005634)				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						GTCCGGCAGCGTCTAGGAACG	0.647																																						ENST00000438447.1																			0				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						c.(6118-6120)gcG>gcA		PDZ domain containing 2		A		0,4406		0,0,2203	106	117	113		6120	-8.8	0	5	dbSNP_134	113	4,8594	801.6+/-407.4	0,4,4295	no	coding-synonymous	PDZD2	NM_178140.2		0,4,6498	AA,AG,GG		0.0465,0.0,0.0308		2040/2840	32089674	4,13000	2203	4299	6502	SO:0001819	synonymous_variant	23037				cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus		g.chr5:32089674G>A	AB002298	CCDS34137.1	5p14.1	2008-02-05	2006-01-24	2006-01-24		ENSG00000133401			18486	protein-coding gene	gene with protein product		610697	"PDZ domain containing 3"	PDZK3		9205841	Standard	XM_005248271		Approved	KIAA0300	uc003jhm.3	O15018		ENST00000438447.1:c.6120G>A	5.37:g.32089674G>A						PDZD2_ENST00000282493.3_Silent_p.A2040A	p.A2040A			O15018	PDZD2_HUMAN			20	6508	+			2040					Q9BXD4	Silent	SNP	ENST00000438447.1	37	c.6120G>A	CCDS34137.1																																																																																				0.647	PDZD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366608.1			12	248	0	0	0	1	0	12	248					A	32089674	G	A	32089674	2	1	275	1	0	0	0	0	0	0	0	1	11701	1132	40	1		1	PDZD2	5	32089674	Silent	SNP	G	TCGA-J4-A6M7-01A-11D-A31L-08		32089674	148825586	7	12725											
C6orf127	340204	broad.mit.edu	37	chr6	35754858	35754858	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gacaattgcgagtcgcactgCgcggagaaggggtccgaggg	9	5	18	9	5	0	1	0	0	0	1	2	5	1	1	1	4	2	1	1	4	2	1			TCGA-J4-A6M7-01A-11D-A31L-08	TCGA-J4-A6M7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68eadfba-d2ec-47a5-9ae8-cbbf066962e8	a8d17ab3-05e9-4f09-a76b-c5740ee14f41	g.chr6:35754858C>T	ENST00000373861.5	+	2	277	c.183C>T	c.(181-183)tgC>tgT	p.C61C	CLPSL1_ENST00000542261.1_Silent_p.C60C			A2RUU4	COLL1_HUMAN	colipase-like 1	61					digestion (GO:0007586)|lipid catabolic process (GO:0016042)	extracellular region (GO:0005576)	enzyme activator activity (GO:0008047)										AGTCGCACTGCGCGGAGAAGG	0.662																																						ENST00000373861.5																			0											c.(181-183)tgC>tgT		colipase-like 1							26	35	32					6																	35754858		2154	4251	6405	SO:0001819	synonymous_variant	340204				digestion|lipid catabolic process	extracellular region	enzyme activator activity	g.chr6:35754858C>T		CCDS43456.1	6p21.31	2014-01-28	2012-02-06	2012-02-06	ENSG00000204140	ENSG00000204140			21251	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 127"	C6orf127			Standard	NM_001010886		Approved	dJ510O8.6	uc003old.4	A2RUU4	OTTHUMG00000014582	ENST00000373861.5:c.183C>T	6.37:g.35754858C>T						CLPSL1_ENST00000542261.1_Silent_p.C60C	p.C61C			A2RUU4	CF127_HUMAN			2	277	+			61					A7E2T6|B2RPE2|B5G4V2|B6ZDM9|Q5T9G1	Silent	SNP	ENST00000373861.5	37	c.183C>T	CCDS43456.1																																																																																				0.662	CLPSL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040317.2	NM_001010886		6	32	0	0	0	1	0	6	32					T	35754858	C	T	35754858	2	4	275	1	0	0	0	0	0	0	0	1	2327	776	27	1		1	C6orf127	6	35754858	Silent	SNP	C	TCGA-J4-A6M7-01A-11D-A31L-08		35754858	135360209	8	12726											
BCLAF1	9774	broad.mit.edu	37	chr6	136599814	136599814	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctctgtacccataaggtcGtctcattcctctattatttc	7	17	4	13	1	3	0	1	0	3	0	8	0	5	0	3	1	1	1	3	1	4	6	rs201790829		TCGA-J4-A6M7-01A-11D-A31L-08	TCGA-J4-A6M7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68eadfba-d2ec-47a5-9ae8-cbbf066962e8	a8d17ab3-05e9-4f09-a76b-c5740ee14f41	g.chr6:136599814G>A	ENST00000531224.1	-	4	457	c.205C>T	c.(205-207)Cga>Tga	p.R69*	BCLAF1_ENST00000392348.2_Nonsense_Mutation_p.R67*|BCLAF1_ENST00000353331.4_Nonsense_Mutation_p.R67*|BCLAF1_ENST00000527759.1_Nonsense_Mutation_p.R67*|BCLAF1_ENST00000530767.1_Nonsense_Mutation_p.R69*|BCLAF1_ENST00000527536.1_Nonsense_Mutation_p.R69*	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1	69					apoptotic process (GO:0006915)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA-templated transcription, initiation (GO:2000144)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of response to DNA damage stimulus (GO:2001022)|regulation of DNA-templated transcription in response to stress (GO:0043620)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		CCATAAGGTCGTCTCATTCCT	0.433																																					Colon(142;1534 1789 5427 7063 28491)	ENST00000531224.1																			0				haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9						c.(205-207)Cga>Tga		BCL2-associated transcription factor 1																																				SO:0001587	stop_gained	9774				induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding	g.chr6:136599814G>A	AF249273	CCDS5177.1, CCDS47485.1, CCDS47486.1, CCDS75525.1	6q22-q23	2007-03-02			ENSG00000029363	ENSG00000029363			16863	protein-coding gene	gene with protein product		612588				8724849, 10330179	Standard	NM_001077440		Approved	KIAA0164, BTF	uc003qgx.1	Q9NYF8	OTTHUMG00000033323	ENST00000531224.1:c.205C>T	6.37:g.136599814G>A	ENSP00000435210:p.Arg69*					BCLAF1_ENST00000353331.4_Nonsense_Mutation_p.R67*|BCLAF1_ENST00000527759.1_Nonsense_Mutation_p.R67*|BCLAF1_ENST00000527536.1_Nonsense_Mutation_p.R69*|BCLAF1_ENST00000392348.2_Nonsense_Mutation_p.R67*|BCLAF1_ENST00000530767.1_Nonsense_Mutation_p.R69*	p.R69*	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN		GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)	4	457	-	Colorectal(23;0.24)		69					A2RU75|B7ZM58|E1P586|Q14673|Q86WU6|Q86WY0	Nonsense_Mutation	SNP	ENST00000531224.1	37	c.205C>T	CCDS5177.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.201669	0.79015	.	.	ENSG00000029363	ENST00000531224;ENST00000353331;ENST00000527536;ENST00000530767;ENST00000527759;ENST00000392348;ENST00000529826	.	.	.	5.64	3.59	0.41128	.	0.000000	0.52532	D	0.000064	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-4.5909	16.2474	0.82450	0.0:0.0:0.7701:0.2299	.	.	.	.	X	69;67;69;69;67;67;69	.	ENSP00000229446:R67X	R	-	1	2	BCLAF1	136641507	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.151000	0.58105	1.318000	0.45170	0.557000	0.71058	CGA		0.433	BCLAF1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042375.2	NM_014739		9	79	0	0	0	1	0	9	79					A	136599814	G	A	136599814	4	1	275	1	0	0	0	0	0	1	0	0	1383	1153	40	1	2597	1	BCLAF1	6	136599814	Nonsense_Mutation	SNP	G	TCGA-J4-A6M7-01A-11D-A31L-08	100844956	136599814	34515253	9	12727											
TAB2	23118	broad.mit.edu	37	chr6	149700269	149700269	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcatgcggaatcagcccacActcttcatatccacaaactc	12	9	5	15	1	4	0	3	0	1	0	6	1	5	1	2	1	3	0	2	1	3	2			TCGA-J4-A6M7-01A-11D-A31L-08	TCGA-J4-A6M7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68eadfba-d2ec-47a5-9ae8-cbbf066962e8	a8d17ab3-05e9-4f09-a76b-c5740ee14f41	g.chr6:149700269A>G	ENST00000367456.1	+	4	1795	c.1218A>G	c.(1216-1218)acA>acG	p.T406T	TAB2_ENST00000392282.1_Silent_p.T406T|TAB2_ENST00000536230.1_Silent_p.T374T|TAB2_ENST00000286332.5_Silent_p.T406T|TAB2_ENST00000538427.1_Silent_p.T406T			Q9NYJ8	TAB2_HUMAN	TGF-beta activated kinase 1/MAP3K7 binding protein 2	406					activation of MAPK activity (GO:0000187)|Fc-epsilon receptor signaling pathway (GO:0038095)|heart development (GO:0007507)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein kinase activity (GO:0045860)|stress-activated MAPK cascade (GO:0051403)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|endosome membrane (GO:0010008)|plasma membrane (GO:0005886)	K63-linked polyubiquitin binding (GO:0070530)|zinc ion binding (GO:0008270)			breast(2)|endometrium(6)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1)	22						ATCAGCCCACACTCTTCATAT	0.502																																						ENST00000367456.1																			0				breast(2)|endometrium(6)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1)	22						c.(1216-1218)acA>acG		TGF-beta activated kinase 1/MAP3K7 binding protein 2							74	69	71					6																	149700269		2203	4300	6503	SO:0001819	synonymous_variant	23118				activation of MAPK activity|heart development|I-kappaB kinase/NF-kappaB cascade|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane	K63-linked polyubiquitin binding|zinc ion binding	g.chr6:149700269A>G	AF241230	CCDS5214.1	6q25.1	2010-08-05	2010-02-05	2010-02-05	ENSG00000055208	ENSG00000055208			17075	protein-coding gene	gene with protein product		605101	"mitogen-activated protein kinase kinase kinase 7 interacting protein 2"	MAP3K7IP2		9872452, 10882101	Standard	XR_250046		Approved	KIAA0733	uc010kib.2	Q9NYJ8	OTTHUMG00000015783	ENST00000367456.1:c.1218A>G	6.37:g.149700269A>G						TAB2_ENST00000538427.1_Silent_p.T406T|TAB2_ENST00000536230.1_Silent_p.T374T|TAB2_ENST00000392282.1_Silent_p.T406T|TAB2_ENST00000286332.5_Silent_p.T406T	p.T406T			Q9NYJ8	TAB2_HUMAN			4	1795	+			406					B2RCC4|E1P5A0|O94838|Q6I9W8|Q76N06|Q9UFP7	Silent	SNP	ENST00000367456.1	37	c.1218A>G	CCDS5214.1																																																																																				0.502	TAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042633.3			13	25	0	0	0	1	0	13	25					G	149700269	A	G	149700269	2	3	275	1	0	0	0	0	0	0	0	1	15493	146	6	4		4	TAB2	6	149700269	Silent	SNP	A	TCGA-J4-A6M7-01A-11D-A31L-08	13100455	149700269	21414798	10	12728											
AMZ1	155185	broad.mit.edu	37	chr7	2752278	2752278	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atccaggccctgcagcgggaAgtggcagaggaggacctggt	9	5	17	10	1	0	1	0	0	0	1	1	4	1	4	3	6	2	2	3	6	1	0	rs148314719	byFrequency	TCGA-J4-A6M7-01A-11D-A31L-08	TCGA-J4-A6M7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68eadfba-d2ec-47a5-9ae8-cbbf066962e8	a8d17ab3-05e9-4f09-a76b-c5740ee14f41	g.chr7:2752278A>C	ENST00000312371.4	+	7	1631	c.1263A>C	c.(1261-1263)gaA>gaC	p.E421D	AMZ1_ENST00000489665.1_Intron|AMZ1_ENST00000407112.1_3'UTR	NM_133463.1	NP_597720.1	Q400G9	AMZ1_HUMAN	archaelysin family metallopeptidase 1	421							metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(2)|kidney(1)|large_intestine(4)|lung(8)|skin(1)	16		Ovarian(82;0.0779)		OV - Ovarian serous cystadenocarcinoma(56;5.03e-14)		TGCAGCGGGAAGTGGCAGAGG	0.692																																						ENST00000312371.4																			0				breast(2)|kidney(1)|large_intestine(4)|lung(8)|skin(1)	16						c.(1261-1263)gaA>gaC		archaelysin family metallopeptidase 1		A	ASP/GLU	8,4396	12.9+/-30.5	0,8,2194	43	41	42		1263	-5.4	0	7	dbSNP_134	42	0,8596		0,0,4298	yes	missense	AMZ1	NM_133463.1	45	0,8,6492	CC,CA,AA		0.0,0.1817,0.0615	benign	421/499	2752278	8,12992	2202	4298	6500	SO:0001583	missense	155185						metallopeptidase activity|zinc ion binding	g.chr7:2752278A>C	AB075830	CCDS34589.1, CCDS64582.1	7p22.3	2008-01-17			ENSG00000174945	ENSG00000174945			22231	protein-coding gene	gene with protein product	"archaemetzincin-1"	615168				15972818	Standard	NM_133463		Approved	KIAA1950	uc003smr.1	Q400G9	OTTHUMG00000152111	ENST00000312371.4:c.1263A>C	7.37:g.2752278A>C	ENSP00000308149:p.Glu421Asp					AMZ1_ENST00000489665.1_Intron|AMZ1_ENST00000407112.1_3'UTR	p.E421D	NM_133463.1	NP_597720.1	Q400G9	AMZ1_HUMAN		OV - Ovarian serous cystadenocarcinoma(56;5.03e-14)	7	1631	+		Ovarian(82;0.0779)	421					B3KRS0|Q8TF51	Missense_Mutation	SNP	ENST00000312371.4	37	c.1263A>C	CCDS34589.1	.	.	.	.	.	.	.	.	.	.	A	5.497	0.276691	0.10403	0.001817	0.0	ENSG00000174945	ENST00000312371	T	0.24151	1.87	4.67	-5.41	0.02648	.	0.505441	0.18590	N	0.136751	T	0.10594	0.0259	L	0.29908	0.895	0.28043	N	0.933671	B	0.02656	0.0	B	0.04013	0.001	T	0.19679	-1.0298	10	0.20519	T	0.43	-6.246	1.5163	0.02506	0.2593:0.3826:0.1573:0.2008	.	421	Q400G9	AMZ1_HUMAN	D	421	ENSP00000308149:E421D	ENSP00000308149:E421D	E	+	3	2	AMZ1	2718804	0.006000	0.16342	0.002000	0.10522	0.061000	0.15899	-2.333000	0.01108	-1.159000	0.02807	0.379000	0.24179	GAA		0.692	AMZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325244.1	NM_133463		16	25	0	0	0	1	0	16	25					C	2752278	A	C	2752278	3	2	275	1	0	0	0	0	1	0	0	0	596	69	3	5	1285	5	AMZ1	7	2752278	Missense_Mutation	SNP	A	TCGA-J4-A6M7-01A-11D-A31L-08		2752278	156386385	11	12729											
SLC18A1	6570	broad.mit.edu	37	chr8	20004825	20004825	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtagcagagtggagcatagaCgatgttgatgaccccagtga	12	8	14	7	1	0	5	0	3	0	2	0	7	0	6	2	1	2	4	2	1	2	3	rs201904218	byFrequency	TCGA-J4-A6M7-01A-11D-A31L-08	TCGA-J4-A6M7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68eadfba-d2ec-47a5-9ae8-cbbf066962e8	a8d17ab3-05e9-4f09-a76b-c5740ee14f41	g.chr8:20004825C>T	ENST00000276373.5	-	15	1674	c.1408G>A	c.(1408-1410)Gtc>Atc	p.V470I	SLC18A1_ENST00000519026.1_Missense_Mutation_p.V438I|SLC18A1_ENST00000381608.4_Intron|SLC18A1_ENST00000437980.1_Intron|SLC18A1_ENST00000440926.1_Missense_Mutation_p.V470I|SLC18A1_ENST00000265808.7_Missense_Mutation_p.V438I	NM_003053.3	NP_003044.1	P54219	VMAT1_HUMAN	solute carrier family 18 (vesicular monoamine transporter), member 1	470					monoamine transport (GO:0015844)|neurotransmitter transport (GO:0006836)|transmembrane transport (GO:0055085)	clathrin-sculpted monoamine transport vesicle membrane (GO:0070083)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	drug transmembrane transporter activity (GO:0015238)|monoamine transmembrane transporter activity (GO:0008504)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	29				Colorectal(74;0.0747)	Ephedra(DB01363)|Methamphetamine(DB01577)|Norepinephrine(DB00368)|Reserpine(DB00206)	GGAGCATAGACGATGTTGATG	0.512													C|||	2	0.000399361	0	0	5008	,	,		19889	0		0.002	False		,,,				2504	0					ENST00000440926.1																			0				central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	29						c.(1408-1410)Gtc>Atc		solute carrier family 18 (vesicular monoamine transporter), member 1		C	,ILE/VAL,ILE/VAL,ILE/VAL	0,4406		0,0,2203	94	81	85		,1408,1312,1408	-6.6	0	8		85	1,8599	1.2+/-3.3	0,1,4299	yes	intron,missense,missense,missense	SLC18A1	NM_001142325.1,NM_003053.3,NM_001142324.1,NM_001135691.2	,29,29,29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,benign,benign,benign	,470/526,438/494,470/526	20004825	1,13005	2203	4300	6503	SO:0001583	missense	6570				neurotransmitter transport	clathrin sculpted monoamine transport vesicle membrane|integral to membrane|membrane fraction	drug transmembrane transporter activity|monoamine transmembrane transporter activity	g.chr8:20004825C>T		CCDS6013.1, CCDS47814.1, CCDS47815.1	8p21.3	2013-07-18	2013-07-18		ENSG00000036565	ENSG00000036565		"Solute carriers"	10934	protein-coding gene	gene with protein product		193002		VMAT1, VAT1			Standard	NM_003053		Approved	CGAT	uc003wzm.3	P54219	OTTHUMG00000097017	ENST00000276373.5:c.1408G>A	8.37:g.20004825C>T	ENSP00000276373:p.Val470Ile					SLC18A1_ENST00000265808.7_Missense_Mutation_p.V438I|SLC18A1_ENST00000519026.1_Missense_Mutation_p.V438I|SLC18A1_ENST00000276373.5_Missense_Mutation_p.V470I|SLC18A1_ENST00000437980.1_Intron|SLC18A1_ENST00000381608.4_Intron	p.V470I	NM_001135691.2	NP_001129163.1	P54219	VMAT1_HUMAN		Colorectal(74;0.0747)	16	1878	-			470					E9PDJ5|Q9BRE4	Missense_Mutation	SNP	ENST00000276373.5	37	c.1408G>A	CCDS6013.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	10.31	1.314971	0.23908	0.0	1.16E-4	ENSG00000036565	ENST00000265808;ENST00000276373;ENST00000440926;ENST00000519026	T;T;T;T	0.80480	0.48;-1.38;-1.38;0.48	5.02	-6.63	0.01807	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	1.953950	0.01968	N	0.043847	T	0.51109	0.1655	N	0.01267	-0.92	0.09310	N	0.999999	B;B	0.09022	0.002;0.001	B;B	0.04013	0.001;0.001	T	0.51787	-0.8661	10	0.24483	T	0.36	-0.0164	6.8568	0.24044	0.0:0.2671:0.3064:0.4265	.	438;470	E9PDJ5;P54219	.;VMAT1_HUMAN	I	438;470;470;438	ENSP00000265808:V438I;ENSP00000276373:V470I;ENSP00000387549:V470I;ENSP00000429664:V438I	ENSP00000265808:V438I	V	-	1	0	SLC18A1	20049105	0.000000	0.05858	0.037000	0.18230	0.943000	0.58893	-3.042000	0.00632	-1.782000	0.01275	-1.012000	0.02466	GTC		0.512	SLC18A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214106.1			13	51	0	0	0	1	0	13	51					T	20004825	C	T	20004825	3	4	275	1	0	0	0	0	1	0	0	0	14425	536	19	1	177	1	SLC18A1	8	20004825	Missense_Mutation	SNP	C	TCGA-J4-A6M7-01A-11D-A31L-08		20004825	126359197	12	12730											
VAV2	7410	broad.mit.edu	37	chr9	136857224	136857224	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atctgcggccggaagttgatGtccttgaggtcgatggagcc	7	10	15	9	3	1	2	0	2	1	0	3	5	2	4	3	4	2	1	3	4	1	2			TCGA-J4-A6M7-01A-11D-A31L-08	TCGA-J4-A6M7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68eadfba-d2ec-47a5-9ae8-cbbf066962e8	a8d17ab3-05e9-4f09-a76b-c5740ee14f41	g.chr9:136857224G>T	ENST00000371850.3	-	1	208	c.177C>A	c.(175-177)gaC>gaA	p.D59E	VAV2_ENST00000371851.1_Missense_Mutation_p.D59E|VAV2_ENST00000406606.3_Missense_Mutation_p.D59E|VAV2_ENST00000486113.1_5'UTR	NM_001134398.1	NP_001127870.1	P52735	VAV2_HUMAN	vav 2 guanine nucleotide exchange factor	59	CH. {ECO:0000255|PROSITE- ProRule:PRU00044}.				angiogenesis (GO:0001525)|apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|lamellipodium assembly (GO:0030032)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|central_nervous_system(3)|endometrium(1)|kidney(3)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(1)	35				OV - Ovarian serous cystadenocarcinoma(145;3.9e-07)|Epithelial(140;2.07e-06)|all cancers(34;9.39e-06)		GGAAGTTGATGTCCTTGAGGT	0.726																																						ENST00000371851.1																			0				breast(1)|central_nervous_system(3)|endometrium(1)|kidney(3)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(1)	35						c.(175-177)gaC>gaA		vav 2 guanine nucleotide exchange factor							17	17	17					9																	136857224		2197	4295	6492	SO:0001583	missense	7410				angiogenesis|apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	metal ion binding|Rho guanyl-nucleotide exchange factor activity	g.chr9:136857224G>T		CCDS6979.1, CCDS48053.1	9q34.1	2013-02-14	2007-07-25		ENSG00000160293	ENSG00000160293		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing", "SH2 domain containing"	12658	protein-coding gene	gene with protein product		600428	"vav 2 oncogene"			7762982	Standard	NM_003371		Approved		uc004ces.3	P52735	OTTHUMG00000020882	ENST00000371850.3:c.177C>A	9.37:g.136857224G>T	ENSP00000360916:p.Asp59Glu					VAV2_ENST00000406606.3_Missense_Mutation_p.D59E|VAV2_ENST00000486113.1_5'UTR|VAV2_ENST00000371850.3_Missense_Mutation_p.D59E	p.D59E			P52735	VAV2_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;3.9e-07)|Epithelial(140;2.07e-06)|all cancers(34;9.39e-06)	1	502	-			59			CH.		A2RUM4|A8MQ12|B6ZDF5|Q5SYV3|Q5SYV4|Q5SYV5|Q6N012|Q6PIJ9|Q6Q317	Missense_Mutation	SNP	ENST00000371850.3	37	c.177C>A	CCDS48053.1	.	.	.	.	.	.	.	.	.	.	G	3.925	-0.017362	0.07681	.	.	ENSG00000160293	ENST00000371850;ENST00000371851;ENST00000406606;ENST00000325440	T;T;T	0.58060	0.36;0.36;0.36	3.56	1.49	0.22878	Calponin homology domain (5);	0.000000	0.49305	U	0.000154	T	0.19366	0.0465	N	0.02379	-0.575	0.41562	D	0.988639	B;B	0.11235	0.004;0.001	B;B	0.17722	0.019;0.005	T	0.27157	-1.0082	10	0.02654	T	1	.	7.2601	0.26199	0.1021:0.1691:0.7287:0.0	.	59;59	P52735;P52735-3	VAV2_HUMAN;.	E	59	ENSP00000360916:D59E;ENSP00000360917:D59E;ENSP00000385362:D59E	ENSP00000317258:D59E	D	-	3	2	VAV2	135847045	1.000000	0.71417	1.000000	0.80357	0.770000	0.43624	2.763000	0.47605	0.406000	0.25560	0.205000	0.17691	GAC		0.726	VAV2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054939.1			8	17	1	0	0.000274275	1	0.000309665	8	17					T	136857224	G	T	136857224	3	4	275	1	0	0	0	0	1	0	0	0	17129	1368	48	5	2579	5	VAV2	9	136857224	Missense_Mutation	SNP	G	TCGA-J4-A6M7-01A-11D-A31L-08		136857224	4356207	13	12731											
CACNB2	783	broad.mit.edu	37	chr10	18429692	18429692	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caaagggacatgtccaagtcGcctcccacagcggcggcggc	9	4	13	15	4	0	0	0	0	0	0	3	1	2	1	3	4	1	0	3	4	2	0			TCGA-J4-A6M7-01A-11D-A31L-08	TCGA-J4-A6M7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68eadfba-d2ec-47a5-9ae8-cbbf066962e8	a8d17ab3-05e9-4f09-a76b-c5740ee14f41	g.chr10:18429692G>T	ENST00000324631.7	+	1	87	c.27G>T	c.(25-27)tcG>tcT	p.S9S	CACNB2_ENST00000377328.1_Silent_p.S9S|CACNB2_ENST00000352115.6_Silent_p.S9S|CACNB2_ENST00000282343.8_5'Flank|CACNB2_ENST00000377331.2_5'Flank	NM_201593.2|NM_201596.2	NP_963887.2|NP_963890.2	Q08289	CACB2_HUMAN	calcium channel, voltage-dependent, beta 2 subunit	9					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|neuromuscular junction development (GO:0007528)|positive regulation of calcium ion transport (GO:0051928)|synaptic transmission (GO:0007268)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|voltage-gated calcium channel complex (GO:0005891)	calcium channel activity (GO:0005262)|voltage-gated calcium channel activity (GO:0005245)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|stomach(2)	31					Amlodipine(DB00381)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	TGTCCAAGTCGCCTCCCACAG	0.711																																						ENST00000324631.7																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|stomach(2)	31						c.(25-27)tcG>tcT		calcium channel, voltage-dependent, beta 2 subunit	Magnesium Sulfate(DB00653)|Verapamil(DB00661)						7	11	10					10																	18429692		2179	4258	6437	SO:0001819	synonymous_variant	783				axon guidance|neuromuscular junction development	integral to plasma membrane|sarcolemma|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity	g.chr10:18429692G>T	U95019	CCDS7125.1, CCDS7126.1, CCDS7127.1, CCDS7128.1, CCDS7129.1, CCDS41493.1, CCDS41494.1	10p12	2014-09-17			ENSG00000165995	ENSG00000165995		"Calcium channel subunits"	1402	protein-coding gene	gene with protein product		600003		MYSB, CACNLB2		9254841, 8494331	Standard	NM_201596		Approved		uc001ipr.2	Q08289	OTTHUMG00000017764	ENST00000324631.7:c.27G>T	10.37:g.18429692G>T						CACNB2_ENST00000352115.6_Silent_p.S9S|CACNB2_ENST00000377328.1_Silent_p.S9S	p.S9S	NM_201593.2|NM_201596.2	NP_963887.2|NP_963890.2	Q08289	CACB2_HUMAN			1	87	+			9					A6PVM5|A6PVM7|A6PVM8|O00304|Q5QJ99|Q5QJA0|Q5VVG9|Q5VVH0|Q5VWV6|Q6TME1|Q6TME2|Q6TME3|Q8WX81|Q96NZ3|Q96NZ4|Q96NZ5|Q9BWU2|Q9HD32|Q9Y340|Q9Y341	Silent	SNP	ENST00000324631.7	37	c.27G>T	CCDS7125.1																																																																																				0.711	CACNB2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047072.2	NM_000724		9	2	1	0	0.000442599	1	0.000484093	9	2					T	18429692	G	T	18429692	2	4	275	1	0	0	0	0	0	0	0	1	2553	1074	38	5		5	CACNB2	10	18429692	Silent	SNP	G	TCGA-J4-A6M7-01A-11D-A31L-08		18429692	117105055	14	12732											
OR52D1	390066	broad.mit.edu	37	chr11	5510687	5510688	+	Frame_Shift_Ins	INS	-	-	C																															tggctcccacattggcatcaINStcctggttttctacatccct																								rs7101919	byFrequency	TCGA-J4-A6M7-01A-11D-A31L-08	TCGA-J4-A6M7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68eadfba-d2ec-47a5-9ae8-cbbf066962e8	a8d17ab3-05e9-4f09-a76b-c5740ee14f41	g.chr11:5510687_5510688insC	ENST00000322641.5	+	1	773_774	c.751_752insC	c.(751-753)atcfs	p.I251fs	HBE1_ENST00000380237.1_Intron|AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380259.2_Intron|HBG2_ENST00000380252.1_Intron	NM_001005163.2	NP_001005163.1	Q9H346	O52D1_HUMAN	olfactory receptor, family 52, subfamily D, member 1	251			I -> T (in dbSNP:rs7101919).		detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	22		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;3.46e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CATTGGCATCATCCTGGTTTTC	0.495																																						ENST00000322641.5																			0				central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	22						c.(751-753)cctfs		olfactory receptor, family 52, subfamily D, member 1																																				SO:0001589	frameshift_variant	390066				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5510687_5510688insC	BK004276	CCDS31384.1	11p15.4	2012-08-09			ENSG00000181609	ENSG00000181609		"GPCR / Class A : Olfactory receptors"	15212	protein-coding gene	gene with protein product							Standard	NM_001005163		Approved		uc010qzg.2	Q9H346	OTTHUMG00000066895	Exception_encountered	11.37:g.5510687_5510688insC	ENSP00000326232:p.Ile251fs					AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380259.2_Intron|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron	p.P251fs	NM_001005163.2	NP_001005163.1	Q9H346	O52D1_HUMAN		Epithelial(150;3.46e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	773_774	+		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)	251		I -> T (in dbSNP:rs7101919).			B9EGY9|Q6IFI6	Frame_Shift_Ins	INS	ENST00000322641.5	37	c.751_752insC	CCDS31384.1																																																																																				0.495	OR52D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143372.1	NM_001005163		13	111						13	111	---	---	---	---	C	5510688	-	C	5510687	7	5	275	1	0	1	1	0	0	0	0	0	11114	217	8	0	753	0	OR52D1	11	5510687	Frame_Shift_Ins	INS	-	TCGA-J4-A6M7-01A-11D-A31L-08		5510687	129495829	15	12733											
PDE1B	5153	broad.mit.edu	37	chr12	54966490	54966490	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acgcagccgatgttacccagAcagtccattgcttcttgctc	8	11	8	14	2	1	1	0	0	1	1	3	2	2	1	3	0	4	4	3	0	1	4			TCGA-J4-A6M7-01A-11D-A31L-08	TCGA-J4-A6M7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68eadfba-d2ec-47a5-9ae8-cbbf066962e8	a8d17ab3-05e9-4f09-a76b-c5740ee14f41	g.chr12:54966490A>G	ENST00000243052.3	+	7	1136	c.700A>G	c.(700-702)Aca>Gca	p.T234A	PDE1B_ENST00000538346.1_Missense_Mutation_p.T193A|PDE1B_ENST00000394277.3_3'UTR|PDE1B_ENST00000550620.1_Missense_Mutation_p.T214A	NM_000924.3	NP_000915.1	Q01064	PDE1B_HUMAN	phosphodiesterase 1B, calmodulin-dependent	234	Catalytic. {ECO:0000250}.				activation of phospholipase C activity (GO:0007202)|apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cellular response to granulocyte macrophage colony-stimulating factor stimulus (GO:0097011)|cellular response to macrophage colony-stimulating factor stimulus (GO:0036006)|cGMP catabolic process (GO:0046069)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|locomotory behavior (GO:0007626)|monocyte differentiation (GO:0030224)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of dopamine metabolic process (GO:0042053)|regulation of neurotransmitter levels (GO:0001505)|response to amphetamine (GO:0001975)|serotonin metabolic process (GO:0042428)|signal transduction (GO:0007165)|visual learning (GO:0008542)	cytosol (GO:0005829)|neuronal cell body (GO:0043025)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|calcium- and calmodulin-regulated 3',5'-cyclic-GMP phosphodiesterase activity (GO:0048101)|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity (GO:0004117)|metal ion binding (GO:0046872)			endometrium(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(4)	31					Bepridil(DB01244)|Caffeine(DB00201)|Felodipine(DB01023)|Nicardipine(DB00622)	TGTTACCCAGACAGTCCATTG	0.512																																						ENST00000243052.3																			0				endometrium(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(4)	31						c.(700-702)Aca>Gca		phosphodiesterase 1B, calmodulin-dependent							311	289	297					12																	54966490		2203	4300	6503	SO:0001583	missense	0				activation of phospholipase C activity|apoptosis|nerve growth factor receptor signaling pathway|platelet activation	cytosol|nucleus	3',5'-cyclic-AMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding	g.chr12:54966490A>G	U56976	CCDS8882.1, CCDS53800.1, CCDS73477.1	12q13	2008-03-18				ENSG00000123360	3.1.4.17	"Phosphodiesterases"	8775	protein-coding gene	gene with protein product		171891		PDES1B		8855339, 9419816	Standard	NM_000924		Approved		uc001sgd.2	Q01064	OTTHUMG00000169844	ENST00000243052.3:c.700A>G	12.37:g.54966490A>G	ENSP00000243052:p.Thr234Ala					PDE1B_ENST00000394277.3_3'UTR|PDE1B_ENST00000550620.1_Missense_Mutation_p.T214A|PDE1B_ENST00000538346.1_Missense_Mutation_p.T193A	p.T234A	NM_000924.3	NP_000915.1	Q01064	PDE1B_HUMAN			7	1136	+			234			Catalytic (By similarity).		Q92825|Q96KP3	Missense_Mutation	SNP	ENST00000243052.3	37	c.700A>G	CCDS8882.1	.	.	.	.	.	.	.	.	.	.	A	23.6	4.437468	0.83885	.	.	ENSG00000123360	ENST00000243052;ENST00000538346;ENST00000550620	T;T;T	0.81330	-1.48;-1.48;-1.48	4.98	4.98	0.66077	Metal-dependent phosphohydrolase, HD domain (1);5&apos (2);-cyclic nucleotide phosphodiesterase, catalytic domain (2);3&apos (2);	0.113900	0.56097	D	0.000023	D	0.84696	0.5529	L	0.41079	1.255	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.81914	0.991;0.995	D	0.86168	0.1598	10	0.87932	D	0	.	12.9592	0.58447	1.0:0.0:0.0:0.0	.	214;234	Q01064-2;Q01064	.;PDE1B_HUMAN	A	234;193;214	ENSP00000243052:T234A;ENSP00000442559:T193A;ENSP00000448519:T214A	ENSP00000243052:T234A	T	+	1	0	PDE1B	53252757	1.000000	0.71417	0.997000	0.53966	0.822000	0.46500	8.979000	0.93455	2.234000	0.73211	0.533000	0.62120	ACA		0.512	PDE1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406203.1			32	301	0	0	0	1	0	32	301					G	54966490	A	G	54966490	3	3	275	1	0	0	0	0	1	0	0	0	11634	275	10	4	779	4	PDE1B	12	54966490	Missense_Mutation	SNP	A	TCGA-J4-A6M7-01A-11D-A31L-08		54966490	78885405	16	12734											
GLI1	2735	broad.mit.edu	37	chr12	57865272	57865272	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggagggtgggggcagggaaGatgcccccgcccaggaacct	8	3	19	11	1	0	1	0	0	0	1	0	4	0	4	4	6	2	1	4	6	2	0			TCGA-J4-A6M7-01A-11D-A31L-08	TCGA-J4-A6M7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68eadfba-d2ec-47a5-9ae8-cbbf066962e8	a8d17ab3-05e9-4f09-a76b-c5740ee14f41	g.chr12:57865272G>T	ENST00000228682.2	+	12	2840	c.2749G>T	c.(2749-2751)Gat>Tat	p.D917Y	GLI1_ENST00000546141.1_Missense_Mutation_p.D876Y|GLI1_ENST00000543426.1_Missense_Mutation_p.D789Y	NM_005269.2	NP_005260.1	P08151	GLI1_HUMAN	GLI family zinc finger 1	917					cerebellar cortex morphogenesis (GO:0021696)|digestive tract morphogenesis (GO:0048546)|dorsal/ventral pattern formation (GO:0009953)|epidermal cell differentiation (GO:0009913)|lung development (GO:0030324)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|notochord regression (GO:0060032)|osteoblast differentiation (GO:0001649)|pituitary gland development (GO:0021983)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|proximal/distal pattern formation (GO:0009954)|regulation of smoothened signaling pathway (GO:0008589)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation (GO:0021938)|spermatogenesis (GO:0007283)|ventral midline development (GO:0007418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|primary cilium (GO:0072372)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(8)|lung(22)|ovary(6)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69			GBM - Glioblastoma multiforme(3;3.99e-32)			GGGCAGGGAAGATGCCCCCGC	0.562																																					Pancreas(157;841 1936 10503 41495 50368)	ENST00000228682.2																			0				NS(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(8)|lung(22)|ovary(6)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69						c.(2749-2751)Gat>Tat		GLI family zinc finger 1							36	40	38					12																	57865272		2203	4300	6503	SO:0001583	missense	2735				epidermal cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|osteoblast differentiation|positive regulation of DNA replication|positive regulation of smoothened signaling pathway|positive regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	transcription regulatory region DNA binding|zinc ion binding	g.chr12:57865272G>T		CCDS8940.1, CCDS53806.1, CCDS53807.1	12q13.2-q13.3	2013-01-25	2009-03-05	2005-01-14		ENSG00000111087		"Zinc fingers, C2H2-type"	4317	protein-coding gene	gene with protein product		165220	"glioma-associated oncogene homolog 1 (zinc finger protein)", "glioma-associated oncogene family zinc finger 1"	GLI		2850480	Standard	NM_005269		Approved		uc001snx.3	P08151		ENST00000228682.2:c.2749G>T	12.37:g.57865272G>T	ENSP00000228682:p.Asp917Tyr					GLI1_ENST00000543426.1_Missense_Mutation_p.D789Y|GLI1_ENST00000546141.1_Missense_Mutation_p.D876Y	p.D917Y	NM_005269.2	NP_005260.1	P08151	GLI1_HUMAN	GBM - Glioblastoma multiforme(3;3.99e-32)		12	2840	+			917					D0EUY3|E9PQQ9|F5H6H8|Q8TDN9	Missense_Mutation	SNP	ENST00000228682.2	37	c.2749G>T	CCDS8940.1	.	.	.	.	.	.	.	.	.	.	G	10.88	1.475442	0.26511	.	.	ENSG00000111087	ENST00000543426;ENST00000228682;ENST00000546141;ENST00000528467;ENST00000443131	T;T;T;T	0.14022	2.65;2.54;2.61;2.61	4.53	3.61	0.41365	.	0.879530	0.09605	N	0.779686	T	0.09069	0.0224	N	0.22421	0.69	0.09310	N	1	P	0.44195	0.828	B	0.44085	0.44	T	0.03184	-1.1063	10	0.02654	T	1	.	6.231	0.20734	0.0995:0.1917:0.7088:0.0	.	917	P08151	GLI1_HUMAN	Y	789;917;876;876;385	ENSP00000437607:D789Y;ENSP00000228682:D917Y;ENSP00000441006:D876Y;ENSP00000434408:D876Y	ENSP00000228682:D917Y	D	+	1	0	GLI1	56151539	0.003000	0.15002	0.524000	0.27887	0.693000	0.40251	0.718000	0.25866	1.221000	0.43506	0.555000	0.69702	GAT		0.562	GLI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394197.1	NM_005269		5	64	1	0	1	1	1	5	64					T	57865272	G	T	57865272	3	4	275	1	0	0	0	0	1	0	0	0	6437	942	33	5	2791	5	GLI1	12	57865272	Missense_Mutation	SNP	G	TCGA-J4-A6M7-01A-11D-A31L-08	2898782	57865272	75986623	17	12735											
TBX5	6910	broad.mit.edu	37	chr12	114841632	114841632	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcgctctcgggtttcgaatcGcagggcaggtcttttgcgtc	4	12	14	11	5	2	0	0	0	2	0	6	1	2	0	0	3	1	4	0	3	1	3			TCGA-J4-A6M7-01A-11D-A31L-08	TCGA-J4-A6M7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68eadfba-d2ec-47a5-9ae8-cbbf066962e8	a8d17ab3-05e9-4f09-a76b-c5740ee14f41	g.chr12:114841632G>A	ENST00000310346.4	-	2	738	c.72C>T	c.(70-72)tgC>tgT	p.C24C	TBX5_ENST00000349716.5_Intron|TBX5_ENST00000552726.1_5'UTR|TBX5_ENST00000405440.2_Silent_p.C24C|TBX5_ENST00000526441.1_Silent_p.C24C	NM_000192.3	NP_000183.2	Q99593	TBX5_HUMAN	T-box 5	24				GFGLAHTPLEPDAKDLPCDSKPESALGAPSKSPSSPQAAFT QQ -> ALAGAHLWSLTQKTCLRFEPRARSGPPASPPGRPR SRLHPA (in Ref. 1; CAA70592). {ECO:0000305}.	apoptotic nuclear changes (GO:0030262)|atrial septum morphogenesis (GO:0060413)|atrioventricular valve morphogenesis (GO:0003181)|bundle of His development (GO:0003166)|cardiac left ventricle formation (GO:0003218)|cardiac muscle cell differentiation (GO:0055007)|cell migration involved in coronary vasculogenesis (GO:0060980)|cell-cell signaling (GO:0007267)|embryonic forelimb morphogenesis (GO:0035115)|embryonic limb morphogenesis (GO:0030326)|endocardial cushion development (GO:0003197)|forelimb morphogenesis (GO:0035136)|gene expression (GO:0010467)|heart development (GO:0007507)|lung development (GO:0030324)|morphogenesis of an epithelium (GO:0002009)|negative regulation of cardiac muscle cell proliferation (GO:0060044)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|pattern specification process (GO:0007389)|pericardium development (GO:0060039)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cardioblast differentiation (GO:0051891)|positive regulation of secondary heart field cardioblast proliferation (GO:0072513)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of execution phase of apoptosis (GO:1900117)|transcription initiation from RNA polymerase II promoter (GO:0006367)|ventricular cardiac muscle tissue development (GO:0003229)|ventricular septum development (GO:0003281)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(29)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0893)		GTTTCGAATCGCAGGGCAGGT	0.701																																					NSCLC(152;1358 1980 4050 23898 40356)	ENST00000310346.4																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(29)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	56						c.(70-72)tgC>tgT		T-box 5							33	41	39					12																	114841632		2203	4299	6502	SO:0001819	synonymous_variant	6910				cardiac left ventricle formation|cell migration involved in coronary vasculogenesis|cell-cell signaling|embryonic arm morphogenesis|induction of apoptosis|negative regulation of cardiac muscle cell proliferation|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|pericardium development|positive regulation of cardioblast differentiation|positive regulation of transcription from RNA polymerase II promoter|ventricular septum development	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding	g.chr12:114841632G>A	U89353	CCDS9173.1, CCDS9174.1	12q24.1	2014-09-17			ENSG00000089225	ENSG00000089225		"T-boxes"	11604	protein-coding gene	gene with protein product		601620		HOS		8988165, 8054982	Standard	NM_000192		Approved		uc001tvo.4	Q99593	OTTHUMG00000166191	ENST00000310346.4:c.72C>T	12.37:g.114841632G>A						TBX5_ENST00000552726.1_5'UTR|TBX5_ENST00000526441.1_Silent_p.C24C|TBX5_ENST00000349716.5_Intron|TBX5_ENST00000405440.2_Silent_p.C24C	p.C24C	NM_000192.3	NP_000183.2	Q99593	TBX5_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.0893)	2	738	-	Medulloblastoma(191;0.163)|all_neural(191;0.178)		24	GFGLAHTPLEPDAKDLPCDSKPESALGAPSKSPSSPQAAFT QQ -> ALAGAHLWSLTQKTCLRFEPRARSGPPASPPGRPR SRLHPA (in Ref. 1; CAA70592).				A6ND77|O15301|Q96TB0|Q9Y4I2	Silent	SNP	ENST00000310346.4	37	c.72C>T	CCDS9173.1																																																																																				0.701	TBX5-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388297.1	NM_080717		25	41	0	0	0	1	0	25	41					A	114841632	G	A	114841632	2	1	275	1	0	0	0	0	0	0	0	1	15658	1079	38	1		1	TBX5	12	114841632	Silent	SNP	G	TCGA-J4-A6M7-01A-11D-A31L-08	56976360	114841632	19010263	18	12736											
RYR3	6263	broad.mit.edu	37	chr15	33795933	33795933	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacacaggtgaaaatggcggCgaaggggtgagtacccgaat	14	5	15	7	3	0	2	0	2	0	0	0	4	0	2	1	5	2	1	1	5	6	1	rs375622890		TCGA-J4-A6M7-01A-11D-A31L-08	TCGA-J4-A6M7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68eadfba-d2ec-47a5-9ae8-cbbf066962e8	a8d17ab3-05e9-4f09-a76b-c5740ee14f41	g.chr15:33795933C>T	ENST00000389232.4	+	3	343	c.273C>T	c.(271-273)ggC>ggT	p.G91G	RYR3_ENST00000415757.3_Silent_p.G91G	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	91					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		AAAATGGCGGCGAAGGGGTGA	0.478																																						ENST00000389232.4																			0				NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311						c.(271-273)ggC>ggT		ryanodine receptor 3		C		1,3811		0,1,1905	45	47	47		273	-7.1	0.6	15		47	0,8254		0,0,4127	no	coding-synonymous	RYR3	NM_001036.3		0,1,6032	TT,TC,CC		0.0,0.0262,0.0083		91/4871	33795933	1,12065	1906	4127	6033	SO:0001819	synonymous_variant	6263				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr15:33795933C>T		CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"Ion channels / Ryanodine receptors", "EF-hand domain containing"	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.273C>T	15.37:g.33795933C>T						RYR3_ENST00000415757.3_Silent_p.G91G	p.G91G	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)	3	343	+		all_lung(180;7.18e-09)	91					O15175|Q15412	Silent	SNP	ENST00000389232.4	37	c.273C>T	CCDS45210.1																																																																																				0.478	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1			6	15	0	0	0	1	0	6	15					T	33795933	C	T	33795933	2	4	275	1	0	0	0	0	0	0	0	1	13770	755	27	1		1	RYR3	15	33795933	Silent	SNP	C	TCGA-J4-A6M7-01A-11D-A31L-08		33795933	68735459	19	12737											
CNTNAP1	8506	broad.mit.edu	37	chr17	40843294	40843294	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccttgtactgcaactgtgaCgctgaccagccccagtggtg	7	9	12	13	1	0	2	0	2	0	0	0	2	0	2	4	1	4	3	4	1	2	2	rs144310425		TCGA-J4-A6M7-01A-11D-A31L-08	TCGA-J4-A6M7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68eadfba-d2ec-47a5-9ae8-cbbf066962e8	a8d17ab3-05e9-4f09-a76b-c5740ee14f41	g.chr17:40843294C>T	ENST00000264638.4	+	14	2416	c.2199C>T	c.(2197-2199)gaC>gaT	p.D733D	CTD-3193K9.3_ENST00000592440.1_RNA	NM_003632.2	NP_003623.1	P78357	CNTP1_HUMAN	contactin associated protein 1	733	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				axon cargo transport (GO:0008088)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cytoskeleton organization (GO:0007010)|neuromuscular process controlling balance (GO:0050885)|neuromuscular process controlling posture (GO:0050884)|neuron projection morphogenesis (GO:0048812)|neuronal action potential propagation (GO:0019227)|paranodal junction assembly (GO:0030913)|positive regulation of signal transduction (GO:0009967)|protein localization to paranode region of axon (GO:0002175)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|paranode region of axon (GO:0033270)|voltage-gated potassium channel complex (GO:0008076)	receptor activity (GO:0004872)|SH3 domain binding (GO:0017124)|SH3/SH2 adaptor activity (GO:0005070)			NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|lung(15)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.143)		GCAACTGTGACGCTGACCAGC	0.632																																						ENST00000264638.4																			0				NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|lung(15)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						c.(2197-2199)gaC>gaT		contactin associated protein 1		C		2,4404	4.2+/-10.8	0,2,2201	110	112	111		2199	-5.7	0.8	17	dbSNP_134	111	0,8600		0,0,4300	no	coding-synonymous	CNTNAP1	NM_003632.2		0,2,6501	TT,TC,CC		0.0,0.0454,0.0154		733/1385	40843294	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	8506				axon guidance|cell adhesion	paranode region of axon	receptor activity|receptor binding|SH3 domain binding|SH3/SH2 adaptor activity	g.chr17:40843294C>T	U87223	CCDS11436.1	17q21	2008-07-18				ENSG00000108797			8011	protein-coding gene	gene with protein product	"neurexin 4"	602346		NRXN4		9118959	Standard	NM_003632		Approved	p190, Caspr, CNTNAP	uc002iay.3	P78357		ENST00000264638.4:c.2199C>T	17.37:g.40843294C>T						CTD-3193K9.3_ENST00000592440.1_RNA	p.D733D	NM_003632.2	NP_003623.1	P78357	CNTP1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.143)	14	2416	+		Breast(137;0.000143)	733			Fibrinogen C-terminal.			Silent	SNP	ENST00000264638.4	37	c.2199C>T	CCDS11436.1																																																																																				0.632	CNTNAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452342.1	NM_003632		65	109	0	0	0	1	0	65	109					T	40843294	C	T	40843294	2	4	275	1	0	0	0	0	0	0	0	1	3646	535	19	1		1	CNTNAP1	17	40843294	Silent	SNP	C	TCGA-J4-A6M7-01A-11D-A31L-08		40843294	40351916	20	12738											
MC3R	4159	broad.mit.edu	37	chr20	54823920	54823920	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgaatgcttcgtgctgcctGccctctgttcagccaacact	7	12	8	14	1	2	1	1	1	1	0	3	1	2	1	3	0	6	3	3	0	2	2			TCGA-J4-A6M7-01A-11D-A31L-08	TCGA-J4-A6M7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68eadfba-d2ec-47a5-9ae8-cbbf066962e8	a8d17ab3-05e9-4f09-a76b-c5740ee14f41	g.chr20:54823920G>T	ENST00000243911.2	+	1	133	c.21G>T	c.(19-21)ctG>ctT	p.L7L		NM_019888.3	NP_063941.3	P41968	MC3R_HUMAN	melanocortin 3 receptor	7					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|homoiothermy (GO:0042309)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cAMP biosynthetic process (GO:0030819)|regulation of blood pressure (GO:0008217)|regulation of heart rate (GO:0002027)|sodium ion homeostasis (GO:0055078)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	melanocortin receptor activity (GO:0004977)|melanocyte-stimulating hormone receptor activity (GO:0004980)|neuropeptide binding (GO:0042923)|peptide hormone binding (GO:0017046)			breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(3)|skin(1)	26			Colorectal(105;0.202)			CGTGCTGCCTGCCCTCTGTTC	0.567																																						ENST00000243911.2																			0				breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(3)|skin(1)	26						c.(19-21)ctG>ctT		melanocortin 3 receptor							144	145	145					20																	54823920		2203	4300	6503	SO:0001819	synonymous_variant	4159				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	melanocyte-stimulating hormone receptor activity|neuropeptide binding|protein binding	g.chr20:54823920G>T		CCDS13449.2	20q13.2-q13.3	2012-08-10			ENSG00000124089	ENSG00000124089		"GPCR / Class A : Melanocortin receptors"	6931	protein-coding gene	gene with protein product		155540				8463333	Standard	NM_019888		Approved	MC3	uc002xxb.2	P41968	OTTHUMG00000032785	ENST00000243911.2:c.21G>T	20.37:g.54823920G>T							p.L7L	NM_019888.3	NP_063941.3	P41968	MC3R_HUMAN	Colorectal(105;0.202)		1	133	+			44					Q4KN27|Q9H517	Silent	SNP	ENST00000243911.2	37	c.21G>T	CCDS13449.2																																																																																				0.567	MC3R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079786.2			66	117	1	0	1.53134e-21	1	1.84817e-21	66	117					T	54823920	G	T	54823920	2	4	275	1	0	0	0	0	0	0	0	1	9365	1306	46	5		5	MC3R	20	54823920	Silent	SNP	G	TCGA-J4-A6M7-01A-11D-A31L-08		54823920	8201600	21	12739											
CCT8L2	150160	broad.mit.edu	37	chr22	17071981	17071981	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acaccccttcctgggccacaTttattatcccttcagttccc	7	13	4	17	0	1	0	1	0	0	0	4	0	4	0	6	1	0	1	6	1	2	6			TCGA-J4-A6M7-01A-11D-A31L-08	TCGA-J4-A6M7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68eadfba-d2ec-47a5-9ae8-cbbf066962e8	a8d17ab3-05e9-4f09-a76b-c5740ee14f41	g.chr22:17071981T>A	ENST00000359963.3	-	1	1719	c.1460A>T	c.(1459-1461)aAt>aTt	p.N487I		NM_014406.4	NP_055221.1	Q96SF2	TCPQM_HUMAN	chaperonin containing TCP1, subunit 8 (theta)-like 2	487					anion transport (GO:0006820)|cellular protein metabolic process (GO:0044267)|potassium ion transmembrane transport (GO:0071805)|transport (GO:0006810)	cytoplasm (GO:0005737)	anion channel activity (GO:0005253)|ATP binding (GO:0005524)|calcium-activated potassium channel activity (GO:0015269)			breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1)	67	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				CTGGGCCACATTTATTATCCC	0.517																																						ENST00000359963.3																			0				breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1)	67						c.(1459-1461)aAt>aTt		chaperonin containing TCP1, subunit 8 (theta)-like 2							137	132	134					22																	17071981		2203	4300	6503	SO:0001583	missense	150160				cellular protein metabolic process	cytoplasm	anion channel activity|ATP binding|calcium-activated potassium channel activity	g.chr22:17071981T>A	AP003553	CCDS13738.1	22q11.1	2011-09-01			ENSG00000198445	ENSG00000198445			15553	protein-coding gene	gene with protein product							Standard	NM_014406		Approved	CESK1	uc002zlp.1	Q96SF2	OTTHUMG00000141302	ENST00000359963.3:c.1460A>T	22.37:g.17071981T>A	ENSP00000353048:p.Asn487Ile						p.N487I	NM_014406.4	NP_055221.1	Q96SF2	TCPQM_HUMAN			1	1719	-	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)	487					A4QPH3|Q9UJS3	Missense_Mutation	SNP	ENST00000359963.3	37	c.1460A>T	CCDS13738.1	.	.	.	.	.	.	.	.	.	.	t	10.13	1.266780	0.23136	.	.	ENSG00000198445	ENST00000359963	T	0.80480	-1.38	1.98	1.98	0.26296	.	0.000000	0.42172	U	0.000748	D	0.84889	0.5572	M	0.65498	2.005	0.21325	N	0.999723	D	0.76494	0.999	D	0.72982	0.979	T	0.73433	-0.3984	10	0.87932	D	0	-21.6851	5.9203	0.19078	0.0:0.0:0.0:1.0	.	487	Q96SF2	TCPQM_HUMAN	I	487	ENSP00000353048:N487I	ENSP00000353048:N487I	N	-	2	0	CCT8L2	15451981	0.030000	0.19436	0.031000	0.17742	0.249000	0.25844	3.036000	0.49767	0.922000	0.37019	0.312000	0.20444	AAT		0.517	CCT8L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280580.1			64	92	0	0	0	1	0	64	92					A	17071981	T	A	17071981	3	1	275	1	0	0	0	0	1	0	0	0	2961	1493	52	5	217	5	CCT8L2	22	17071981	Missense_Mutation	SNP	T	TCGA-J4-A6M7-01A-11D-A31L-08		17071981	34232585	22	12740											
KCNJ4	3761	broad.mit.edu	37	chr22	38823055	38823055	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagggggcggtggggcgggCagcacggtgatcttactctc	5	7	20	9	3	2	1	0	1	2	0	3	2	2	2	0	8	2	2	0	8	1	1			TCGA-J4-A6M7-01A-11D-A31L-08	TCGA-J4-A6M7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68eadfba-d2ec-47a5-9ae8-cbbf066962e8	a8d17ab3-05e9-4f09-a76b-c5740ee14f41	g.chr22:38823055C>G	ENST00000303592.3	-	2	1341	c.1083G>C	c.(1081-1083)ctG>ctC	p.L361L	RP3-434P1.6_ENST00000433230.1_RNA	NM_004981.1|NM_152868.2	NP_004972.1|NP_690607.1	P48050	KCNJ4_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 4	361					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	basolateral plasma membrane (GO:0016323)|cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|voltage-gated potassium channel complex (GO:0008076)	inward rectifier potassium channel activity (GO:0005242)|PDZ domain binding (GO:0030165)			endometrium(7)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	23	Melanoma(58;0.0286)					GTGGGGCGGGCAGCACGGTGA	0.642																																						ENST00000303592.3																			0				endometrium(7)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	23						c.(1081-1083)ctG>ctC		potassium inwardly-rectifying channel, subfamily J, member 4							22	28	26					22																	38823055		2201	4297	6498	SO:0001819	synonymous_variant	3761				synaptic transmission	basolateral plasma membrane|voltage-gated potassium channel complex	inward rectifier potassium channel activity|PDZ domain binding	g.chr22:38823055C>G	U07364	CCDS13971.1	22q13.1	2011-07-05			ENSG00000168135	ENSG00000168135		"Potassium channels", "Voltage-gated ion channels / Potassium channels, Inwardly rectifying"	6265	protein-coding gene	gene with protein product		600504				8016146, 16382105	Standard	NM_152868		Approved	Kir2.3, HIR, HRK1, hIRK2, IRK3	uc003avs.1	P48050	OTTHUMG00000151131	ENST00000303592.3:c.1083G>C	22.37:g.38823055C>G						RP3-434P1.6_ENST00000433230.1_RNA	p.L361L	NM_004981.1|NM_152868.2	NP_004972.1|NP_690607.1	P48050	IRK4_HUMAN			2	1341	-	Melanoma(58;0.0286)		361					Q14D44	Silent	SNP	ENST00000303592.3	37	c.1083G>C	CCDS13971.1																																																																																				0.642	KCNJ4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321447.1	NM_004981		4	59	0	0	0	1	0	4	59					G	38823055	C	G	38823055	2	3	275	1	0	0	0	0	0	0	0	1	8053	697	25	5		5	KCNJ4	22	38823055	Silent	SNP	C	TCGA-J4-A6M7-01A-11D-A31L-08	21751074	38823055	12481511	23	12741											
PNPLA4	8228	broad.mit.edu	37	chrX	7880088	7880088	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cctgccctttgtattccactAgcttcagtcctgcataaatg	8	14	6	13	0	1	0	1	0	0	0	3	0	3	0	4	0	3	3	4	0	4	6			TCGA-J4-A6M7-01A-11D-A31L-08	TCGA-J4-A6M7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68eadfba-d2ec-47a5-9ae8-cbbf066962e8	a8d17ab3-05e9-4f09-a76b-c5740ee14f41	g.chrX:7880088A>G	ENST00000381042.4	-	5	628	c.458T>C	c.(457-459)cTa>cCa	p.L153P	PNPLA4_ENST00000537427.1_Missense_Mutation_p.L66P|PNPLA4_ENST00000444736.1_Missense_Mutation_p.L153P	NM_004650.2	NP_004641.1	P41247	PLPL4_HUMAN	patatin-like phospholipase domain containing 4	153	Patatin.				lipid catabolic process (GO:0016042)		triglyceride lipase activity (GO:0004806)			kidney(1)|large_intestine(3)|lung(2)|prostate(1)	7		Colorectal(8;0.0329)|Medulloblastoma(8;0.232)				GTATTCCACTAGCTTCAGTCC	0.378																																						ENST00000381042.4																			0				kidney(1)|large_intestine(3)|lung(2)|prostate(1)	7						c.(457-459)cTa>cCa		patatin-like phospholipase domain containing 4							121	106	111					X																	7880088		2203	4299	6502	SO:0001583	missense	8228				lipid catabolic process		triglyceride lipase activity	g.chrX:7880088A>G	U03886	CCDS14129.1, CCDS55368.1	Xp22.3	2014-03-14			ENSG00000006757	ENSG00000006757	3.1.1.3	"Patatin-like phospholipase domain containing"	24887	protein-coding gene	gene with protein product		300102				7806223, 16799181, 19029121	Standard	NM_004650		Approved	DXS1283E, GS2, iPLA2eta	uc011mhr.1	P41247	OTTHUMG00000021103	ENST00000381042.4:c.458T>C	X.37:g.7880088A>G	ENSP00000370430:p.Leu153Pro					PNPLA4_ENST00000444736.1_Missense_Mutation_p.L153P|PNPLA4_ENST00000537427.1_Missense_Mutation_p.L66P	p.L153P	NM_004650.2	NP_004641.1	P41247	PLPL4_HUMAN			5	628	-		Colorectal(8;0.0329)|Medulloblastoma(8;0.232)	153			Patatin.		A8K1H3|B4E362|Q8WW83	Missense_Mutation	SNP	ENST00000381042.4	37	c.458T>C	CCDS14129.1	.	.	.	.	.	.	.	.	.	.	G	0.027	-1.362058	0.01235	.	.	ENSG00000006757	ENST00000381042;ENST00000444736;ENST00000537427;ENST00000442940	T;T;T;T	0.60299	0.2;0.2;0.2;0.2	4.41	3.54	0.40534	Acyl transferase/acyl hydrolase/lysophospholipase (1);Patatin/Phospholipase A2-related (1);	0.463963	0.22524	N	0.058940	T	0.11239	0.0274	N	0.00018	-2.82	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.40720	-0.9548	10	0.02654	T	1	-2.7291	7.7431	0.28853	0.2065:0.0:0.7935:0.0	.	153	P41247	PLPL4_HUMAN	P	153;153;66;153	ENSP00000370430:L153P;ENSP00000415245:L153P;ENSP00000443157:L66P;ENSP00000406698:L153P	ENSP00000370430:L153P	L	-	2	0	PNPLA4	7840088	1.000000	0.71417	0.000000	0.03702	0.876000	0.50452	5.132000	0.64758	0.221000	0.20879	-0.170000	0.13304	CTA		0.378	PNPLA4-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055687.1	NM_004650		34	5	0	0	0	1	0	34	5					G	7880088	A	G	7880088	3	3	275	1	0	0	0	0	1	0	0	0	12167	420	15	4	315	4	PNPLA4	23	7880088	Missense_Mutation	SNP	A	TCGA-J4-A6M7-01A-11D-A31L-08		7880088	147390472	24	12742											
EXOSC10	5394	broad.mit.edu	37	chr1	11155880	11155881	+	Frame_Shift_Ins	INS	-	-	T																															ttgtcttccagctcagtcacINStttacttcgatccttaatgt																										TCGA-J4-A83I-01A-11D-A364-08	TCGA-J4-A83I-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdeb9e4e-d715-4565-9cb4-40525a0575ad	13d07794-c0fa-4070-9dcd-9cee45840284	g.chr1:11155880_11155881insT	ENST00000376936.4	-	3	355_356	c.306_307insA	c.(304-309)aaagtgfs	p.V103fs	EXOSC10_ENST00000544779.1_Frame_Shift_Ins_p.V103fs|EXOSC10_ENST00000304457.7_Frame_Shift_Ins_p.V103fs	NM_001001998.1	NP_001001998.1	Q01780	EXOSX_HUMAN	exosome component 10	103					CUT catabolic process (GO:0071034)|dosage compensation by inactivation of X chromosome (GO:0009048)|histone mRNA catabolic process (GO:0071044)|maturation of 5.8S rRNA (GO:0000460)|nuclear mRNA surveillance (GO:0071028)|nuclear polyadenylation-dependent rRNA catabolic process (GO:0071035)|nuclear retention of unspliced pre-mRNA at the site of transcription (GO:0071048)|nuclear-transcribed mRNA catabolic process (GO:0000956)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)	cytoplasm (GO:0005737)|exosome (RNase complex) (GO:0000178)|membrane (GO:0016020)|nuclear exosome (RNase complex) (GO:0000176)|nucleolus (GO:0005730)|nucleus (GO:0005634)|transcriptionally active chromatin (GO:0035327)	3'-5' exonuclease activity (GO:0008408)|exoribonuclease activity (GO:0004532)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|stomach(3)|upper_aerodigestive_tract(1)	27	Ovarian(185;0.249)	Lung NSC(185;1.74e-05)|all_lung(284;2.05e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;4.18e-07)|COAD - Colon adenocarcinoma(227;8.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000315)|Kidney(185;0.000832)|KIRC - Kidney renal clear cell carcinoma(229;0.00269)|READ - Rectum adenocarcinoma(331;0.0526)|STAD - Stomach adenocarcinoma(313;0.202)		AGCTCAGTCACTTTACTTCGAT	0.381																																					Colon(179;105 1987 14326 27364 29542)	ENST00000544779.1																			0				central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|stomach(3)|upper_aerodigestive_tract(1)	27						c.(304-309)aatgacfs		exosome component 10																																				SO:0001589	frameshift_variant	5394				CUT catabolic process|histone mRNA catabolic process|maturation of 5.8S rRNA|nuclear polyadenylation-dependent rRNA catabolic process|nuclear retention of unspliced pre-mRNA at the site of transcription|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytoplasm|nuclear exosome (RNase complex)|nucleolus|transcriptionally active chromatin	3'-5' exonuclease activity|exoribonuclease activity|identical protein binding|nucleotide binding|protein serine/threonine kinase activity|RNA binding	g.chr1:11155880_11155881insT	BC073788	CCDS126.1, CCDS30584.1	1p36.22	2008-02-05	2004-06-16	2004-06-18	ENSG00000171824	ENSG00000171824			9138	protein-coding gene	gene with protein product	"polymyositis/scleroderma autoantigen 2 (100kD)"	605960	"polymyositis/scleroderma autoantigen 2, 100kDa"	PMSCL2		1383382, 1644924	Standard	NM_001001998		Approved	PM-Scl, PM/Scl-100, Rrp6p, RRP6, p2, p3, p4	uc001asa.3	Q01780	OTTHUMG00000002123	ENST00000376936.4:c.307dupA	1.37:g.11155883_11155883dupT	ENSP00000366135:p.Val103fs					EXOSC10_ENST00000376936.4_Frame_Shift_Ins_p.ND102fs|EXOSC10_ENST00000304457.7_Frame_Shift_Ins_p.ND102fs	p.ND102fs			Q01780	EXOSX_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;4.18e-07)|COAD - Colon adenocarcinoma(227;8.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000315)|Kidney(185;0.000832)|KIRC - Kidney renal clear cell carcinoma(229;0.00269)|READ - Rectum adenocarcinoma(331;0.0526)|STAD - Stomach adenocarcinoma(313;0.202)	3	311_312	-	Ovarian(185;0.249)	Lung NSC(185;1.74e-05)|all_lung(284;2.05e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	102					B1AKQ0|B1AKQ1|Q15158	Frame_Shift_Ins	INS	ENST00000376936.4	37	c.306_307insA	CCDS30584.1																																																																																				0.381	EXOSC10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000006078.1	NM_001001998		74	127						74	127	---	---	---	---	T	11155881	-	T	11155880	7	5	276	1	0	1	1	0	0	0	0	0	5314	565	20	0	2442	0	EXOSC10	1	11155880	Frame_Shift_Ins	INS	-	TCGA-J4-A83I-01A-11D-A364-08		11155880	238094741	1	12743											
LRRC8C	84230	broad.mit.edu	37	chr1	90180327	90180327	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cttctgcaagaaacttaaaaCtctgaagattggaaaaaaca	19	9	6	7	0	2	3	0	1	2	2	2	4	2	4	0	1	4	1	0	1	8	3			TCGA-J4-A83I-01A-11D-A364-08	TCGA-J4-A83I-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdeb9e4e-d715-4565-9cb4-40525a0575ad	13d07794-c0fa-4070-9dcd-9cee45840284	g.chr1:90180327C>G	ENST00000370454.4	+	3	2453	c.2198C>G	c.(2197-2199)aCt>aGt	p.T733S	LRRC8C_ENST00000479252.1_Intron|RP11-302M6.4_ENST00000370453.5_Intron	NM_032270.4	NP_115646	Q8TDW0	LRC8C_HUMAN	leucine rich repeat containing 8 family, member C	733					fat cell differentiation (GO:0045444)|ion transport (GO:0006811)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|large_intestine(5)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	28		all_lung(203;0.126)		all cancers(265;0.00756)|Epithelial(280;0.0313)		AAACTTAAAACTCTGAAGATT	0.338																																						ENST00000370454.4																			0				breast(1)|central_nervous_system(1)|large_intestine(5)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	28						c.(2197-2199)aCt>aGt		leucine rich repeat containing 8 family, member C							61	63	62					1																	90180327		2203	4300	6503	SO:0001583	missense	84230					endoplasmic reticulum membrane|integral to membrane		g.chr1:90180327C>G		CCDS725.1	1p22.2	2011-02-10			ENSG00000171488	ENSG00000171488			25075	protein-coding gene	gene with protein product	"hypothetical protein AD158"	612889				11230166	Standard	NM_032270		Approved	AD158	uc001dnl.4	Q8TDW0	OTTHUMG00000010305	ENST00000370454.4:c.2198C>G	1.37:g.90180327C>G	ENSP00000359483:p.Thr733Ser					RP11-302M6.4_ENST00000370453.5_Intron|LRRC8C_ENST00000479252.1_Intron	p.T733S	NM_032270.4	NP_115646.2	Q8TDW0	LRC8C_HUMAN		all cancers(265;0.00756)|Epithelial(280;0.0313)	3	2453	+		all_lung(203;0.126)	733					B3KXS9|Q29RV6|Q9H075	Missense_Mutation	SNP	ENST00000370454.4	37	c.2198C>G	CCDS725.1	.	.	.	.	.	.	.	.	.	.	C	16.05	3.013789	0.54468	.	.	ENSG00000171488	ENST00000370454	T	0.24350	1.86	5.87	4.95	0.65309	.	0.043054	0.85682	D	0.000000	T	0.08846	0.0219	N	0.20685	0.6	0.54753	D	0.999989	B	0.30542	0.284	B	0.24155	0.051	T	0.07966	-1.0745	10	0.32370	T	0.25	.	15.9441	0.79779	0.0:0.9325:0.0:0.0675	.	733	Q8TDW0	LRC8C_HUMAN	S	733	ENSP00000359483:T733S	ENSP00000359483:T733S	T	+	2	0	LRRC8C	89952915	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.696000	0.68287	2.941000	0.99782	0.655000	0.94253	ACT		0.338	LRRC8C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028435.2	NM_032270		4	99	0	0	0	1	0	4	99					G	90180327	C	G	90180327	3	3	276	1	0	0	0	0	1	0	0	0	9023	565	20	5	2204	5	LRRC8C	1	90180327	Missense_Mutation	SNP	C	TCGA-J4-A83I-01A-11D-A364-08	79024447	90180327	159070294	2	12744											
COL11A1	1301	broad.mit.edu	37	chr1	103540313	103540313	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgtcacagttttcttctccAcgctgattgctacccgatgc	6	15	7	13	2	3	1	1	1	2	0	4	2	3	1	2	0	3	3	2	0	1	6			TCGA-J4-A83I-01A-11D-A364-08	TCGA-J4-A83I-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdeb9e4e-d715-4565-9cb4-40525a0575ad	13d07794-c0fa-4070-9dcd-9cee45840284	g.chr1:103540313A>T	ENST00000370096.3	-	4	824	c.512T>A	c.(511-513)gTg>gAg	p.V171E	COL11A1_ENST00000358392.2_Missense_Mutation_p.V171E|COL11A1_ENST00000512756.1_Missense_Mutation_p.V171E|COL11A1_ENST00000353414.4_Missense_Mutation_p.V171E	NM_001854.3	NP_001845.3	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	171	Laminin G-like.				cartilage condensation (GO:0001502)|chondrocyte development (GO:0002063)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|embryonic skeletal system morphogenesis (GO:0048704)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|proteoglycan metabolic process (GO:0006029)|sensory perception of sound (GO:0007605)|tendon development (GO:0035989)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visual perception (GO:0007601)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		TTTCTTCTCCACGCTGATTGC	0.383																																						ENST00000358392.2																			0				NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258						c.(511-513)gTg>gAg		collagen, type XI, alpha 1							144	125	131					1																	103540313		2202	4300	6502	SO:0001583	missense	1301				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging	g.chr1:103540313A>T	J04177	CCDS778.1, CCDS780.1, CCDS780.2, CCDS53348.1	1p21	2013-01-16			ENSG00000060718	ENSG00000060718		"Collagens"	2186	protein-coding gene	gene with protein product	"collagen XI, alpha-1 polypeptide"	120280		COLL6		3182841	Standard	NM_080630		Approved	STL2, CO11A1	uc001dul.3	P12107	OTTHUMG00000010872	ENST00000370096.3:c.512T>A	1.37:g.103540313A>T	ENSP00000359114:p.Val171Glu					COL11A1_ENST00000353414.4_Missense_Mutation_p.V171E|COL11A1_ENST00000370096.3_Missense_Mutation_p.V171E|COL11A1_ENST00000512756.1_Missense_Mutation_p.V171E	p.V171E	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)	4	829	-		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)	171			TSP N-terminal.		B1ASK7|D3DT73|E9PCU0|Q14034|Q149N0|Q9UIT4|Q9UIT5|Q9UIT6	Missense_Mutation	SNP	ENST00000370096.3	37	c.512T>A	CCDS778.1	.	.	.	.	.	.	.	.	.	.	A	18.33	3.599638	0.66332	.	.	ENSG00000060718	ENST00000370096;ENST00000358392;ENST00000353414;ENST00000512756;ENST00000427239;ENST00000447608	T;T;T;T;T;T	0.03242	4.0;4.0;4.0;4.0;4.0;4.0	5.73	5.73	0.89815	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (1);Laminin G, thrombospondin-type, N-terminal (1);Laminin G, subdomain 2 (1);	0.000000	0.85682	D	0.000000	T	0.20373	0.0490	H	0.94582	3.555	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.998;0.996;0.996;0.998	T	0.17592	-1.0364	10	0.87932	D	0	.	16.0191	0.80468	1.0:0.0:0.0:0.0	.	171;171;171;171	E9PCU0;P12107-3;P12107-2;P12107	.;.;.;COBA1_HUMAN	E	171;171;171;171;171;98	ENSP00000359114:V171E;ENSP00000351163:V171E;ENSP00000302551:V171E;ENSP00000426533:V171E;ENSP00000408640:V171E;ENSP00000410177:V98E	ENSP00000302551:V171E	V	-	2	0	COL11A1	103312901	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.335000	0.96500	2.174000	0.68829	0.528000	0.53228	GTG		0.383	COL11A1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000029997.1	NM_080630		25	40	0	0	0	1	0	25	40					T	103540313	A	T	103540313	3	4	276	1	0	0	0	0	1	0	0	0	3667	159	6	5	5321	5	COL11A1	1	103540313	Missense_Mutation	SNP	A	TCGA-J4-A83I-01A-11D-A364-08	13359986	103540313	145710308	3	12745											
HRNR	388697	broad.mit.edu	37	chr1	152192080	152192080	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gagccagacccatgttggccGtagctggaagagtgcccaaa	11	6	13	11	1	0	2	0	0	0	2	0	4	0	3	4	2	3	3	4	2	3	2			TCGA-J4-A83I-01A-11D-A364-08	TCGA-J4-A83I-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdeb9e4e-d715-4565-9cb4-40525a0575ad	13d07794-c0fa-4070-9dcd-9cee45840284	g.chr1:152192080G>A	ENST00000368801.2	-	3	2100	c.2025C>T	c.(2023-2025)taC>taT	p.Y675Y	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	675					establishment of skin barrier (GO:0061436)|hematopoietic progenitor cell differentiation (GO:0002244)|keratinization (GO:0031424)	cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CATGTTGGCCGTAGCTGGAAG	0.592																																						ENST00000368801.2																			0				autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192						c.(2023-2025)taC>taT		hornerin							127	139	135					1																	152192080		2203	4300	6503	SO:0001819	synonymous_variant	388697				keratinization		calcium ion binding|protein binding	g.chr1:152192080G>A	AB104446	CCDS30859.1	1q21.3	2013-01-10			ENSG00000197915	ENSG00000197915		"EF-hand domain containing"	20846	protein-coding gene	gene with protein product	"filaggrin family member 3"						Standard	NM_001009931		Approved	S100a18, S100A16, FLG3	uc001ezt.2	Q86YZ3	OTTHUMG00000012243	ENST00000368801.2:c.2025C>T	1.37:g.152192080G>A						FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	p.Y675Y	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	2100	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		675					Q5DT20|Q5U1F4	Silent	SNP	ENST00000368801.2	37	c.2025C>T	CCDS30859.1																																																																																				0.592	HRNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034016.1	XM_373868		4	222	0	0	0	1	0	4	222					A	152192080	G	A	152192080	2	1	276	1	0	0	0	0	0	0	0	1	7359	1140	40	1		1	HRNR	1	152192080	Silent	SNP	G	TCGA-J4-A83I-01A-11D-A364-08	48651767	152192080	97058541	4	12746											
LCE1C	353133	broad.mit.edu	37	chr1	152777632	152777632	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cagagtgctggccactccccCcgccacagcagctggagccc	7	4	11	19	1	0	1	0	0	0	1	1	2	1	2	6	2	4	3	6	2	0	0			TCGA-J4-A83I-01A-11D-A364-08	TCGA-J4-A83I-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdeb9e4e-d715-4565-9cb4-40525a0575ad	13d07794-c0fa-4070-9dcd-9cee45840284	g.chr1:152777632C>G	ENST00000607093.1	-	1	322	c.323G>C	c.(322-324)gGg>gCg	p.G108A	LCE1C_ENST00000368768.1_Missense_Mutation_p.G108A			Q5T751	LCE1C_HUMAN	late cornified envelope 1C	108	Gly-rich.				keratinization (GO:0031424)					NS(1)|lung(4)|prostate(1)|skin(2)|urinary_tract(1)	9	Lung NSC(65;9.06e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			GCCACTCCCCCCGCCACAGCA	0.662																																						ENST00000368768.1																			0				NS(1)|lung(4)|prostate(1)|skin(2)|urinary_tract(1)	9						c.(322-324)gGg>gCg		late cornified envelope 1C							38	45	42					1																	152777632		2184	4277	6461	SO:0001583	missense	353133				keratinization			g.chr1:152777632C>G		CCDS1026.1	1q21.3	2008-02-05			ENSG00000197084	ENSG00000197084		"Late cornified envelopes"	29464	protein-coding gene	gene with protein product		612605				11698679	Standard	NM_001276331		Approved	LEP3	uc001fap.1	Q5T751	OTTHUMG00000012445	ENST00000607093.1:c.323G>C	1.37:g.152777632C>G	ENSP00000475270:p.Gly108Ala					LCE1C_ENST00000607093.1_Missense_Mutation_p.G108A	p.G108A	NM_178351.3	NP_848128.1	Q5T751	LCE1C_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		2	373	-	Lung NSC(65;9.06e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		108			Gly-rich.			Missense_Mutation	SNP	ENST00000607093.1	37	c.323G>C	CCDS1026.1	.	.	.	.	.	.	.	.	.	.	C	0.053	-1.244901	0.01481	.	.	ENSG00000197084	ENST00000368768	T	0.03663	3.85	2.82	1.91	0.25777	.	.	.	.	.	T	0.05044	0.0135	L	0.51422	1.61	0.09310	N	1	D	0.71674	0.998	D	0.83275	0.996	T	0.31861	-0.9928	9	0.87932	D	0	.	7.2167	0.25963	0.2649:0.7351:0.0:0.0	.	108	Q5T751	LCE1C_HUMAN	A	108	ENSP00000357757:G108A	ENSP00000357757:G108A	G	-	2	0	LCE1C	151044256	0.001000	0.12720	0.022000	0.16811	0.004000	0.04260	0.976000	0.29462	0.758000	0.33059	-0.127000	0.14921	GGG		0.662	LCE1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034658.2	NM_178351		5	48	0	0	0	1	0	5	48					G	152777632	C	G	152777632	3	3	276	1	0	0	0	0	1	0	0	0	8661	623	22	5	37	5	LCE1C	1	152777632	Missense_Mutation	SNP	C	TCGA-J4-A83I-01A-11D-A364-08	585552	152777632	96472989	5	12747											
ORMDL1	94101	broad.mit.edu	37	chr2	190636618	190636618	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	atacttcgtatagaaacttgCcagaaaatatctgtagagat	16	12	7	6	1	1	3	0	0	1	3	2	4	1	3	1	0	3	2	1	0	8	7			TCGA-J4-A83I-01A-11D-A364-08	TCGA-J4-A83I-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdeb9e4e-d715-4565-9cb4-40525a0575ad	13d07794-c0fa-4070-9dcd-9cee45840284	g.chr2:190636618C>T	ENST00000325795.3	-	3	1123	c.337G>A	c.(337-339)Gca>Aca	p.A113T	ORMDL1_ENST00000392350.3_Missense_Mutation_p.A113T|ORMDL1_ENST00000392349.4_Missense_Mutation_p.A113T|ORMDL1_ENST00000496543.1_5'UTR			Q9P0S3	ORML1_HUMAN	ORMDL sphingolipid biosynthesis regulator 1	113					ceramide metabolic process (GO:0006672)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)				breast(1)|urinary_tract(1)	2			OV - Ovarian serous cystadenocarcinoma(117;0.00177)|Epithelial(96;0.0317)|all cancers(119;0.0889)			TAGAAACTTGCCAGAAAATAT	0.328																																						ENST00000325795.3																			0				breast(1)|urinary_tract(1)	2						c.(337-339)Gca>Aca		ORM1-like 1 (S. cerevisiae)							56	57	56					2																	190636618		2203	4300	6503	SO:0001583	missense	94101				ceramide metabolic process	endoplasmic reticulum membrane|integral to membrane		g.chr2:190636618C>T		CCDS2301.1	2q32	2014-06-16	2014-06-16		ENSG00000128699	ENSG00000128699			16036	protein-coding gene	gene with protein product		610073	"ORM1 (S. cerevisiae)-like 1", "ORM1-like 1 (S. cerevisiae)"			12093374, 23066021	Standard	NM_016467		Approved		uc002ure.4	Q9P0S3	OTTHUMG00000132661	ENST00000325795.3:c.337G>A	2.37:g.190636618C>T	ENSP00000326869:p.Ala113Thr					ORMDL1_ENST00000496543.1_5'UTR|ORMDL1_ENST00000392349.4_Missense_Mutation_p.A113T|ORMDL1_ENST00000392350.3_Missense_Mutation_p.A113T	p.A113T			Q9P0S3	ORML1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00177)|Epithelial(96;0.0317)|all cancers(119;0.0889)		3	1123	-			113					B2R8W3|D3DPH9	Missense_Mutation	SNP	ENST00000325795.3	37	c.337G>A	CCDS2301.1	.	.	.	.	.	.	.	.	.	.	C	6.906	0.536702	0.13188	.	.	ENSG00000128699	ENST00000392350;ENST00000325795;ENST00000392349	.	.	.	5.21	5.21	0.72293	.	0.052491	0.85682	D	0.000000	T	0.39145	0.1067	N	0.19112	0.55	0.80722	D	1	B	0.10296	0.003	B	0.12156	0.007	T	0.21415	-1.0246	9	0.17832	T	0.49	-22.2973	10.5252	0.44943	0.0:0.8508:0.0:0.1492	.	113	Q9P0S3	ORML1_HUMAN	T	113	.	ENSP00000326869:A113T	A	-	1	0	ORMDL1	190344863	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.247000	0.51422	2.707000	0.92482	0.655000	0.94253	GCA		0.328	ORMDL1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335275.1	NM_016467		3	39	0	0	0	1	0	3	39					T	190636618	C	T	190636618	3	4	276	1	0	0	0	0	1	0	0	0	11269	739	26	3	128	3	ORMDL1	2	190636618	Missense_Mutation	SNP	C	TCGA-J4-A83I-01A-11D-A364-08		190636618	52562755	6	12748											
PASK	23178	broad.mit.edu	37	chr2	242066448	242066448	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tgccatcccagaggggctggGggccaagtcctggcttcgcc	5	7	15	14	1	0	1	0	0	0	1	3	1	2	1	5	5	1	2	5	5	1	1	rs375258850		TCGA-J4-A83I-01A-11D-A364-08	TCGA-J4-A83I-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdeb9e4e-d715-4565-9cb4-40525a0575ad	13d07794-c0fa-4070-9dcd-9cee45840284	g.chr2:242066448G>A	ENST00000405260.1	-	10	2580	c.1882C>T	c.(1882-1884)Ccc>Tcc	p.P628S	PASK_ENST00000539818.1_Missense_Mutation_p.P412S|PASK_ENST00000358649.4_Missense_Mutation_p.P628S|PASK_ENST00000544142.1_Missense_Mutation_p.P442S|PASK_ENST00000403638.3_Missense_Mutation_p.P628S|PASK_ENST00000234040.4_Missense_Mutation_p.P628S	NM_001252120.1	NP_001239049.1	Q96RG2	PASK_HUMAN	PAS domain containing serine/threonine kinase	628					negative regulation of glycogen biosynthetic process (GO:0045719)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of energy homeostasis (GO:2000505)|regulation of glucagon secretion (GO:0070092)|regulation of respiratory gaseous exchange (GO:0043576)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	ATP binding (GO:0005524)|phosphatidylinositol binding (GO:0035091)|protein serine/threonine kinase activity (GO:0004674)|signal transducer activity (GO:0004871)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(20)|ovary(4)|prostate(4)|skin(1)|stomach(1)|urinary_tract(2)	53		all_cancers(19;4.46e-39)|all_epithelial(40;1.34e-17)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00481)|Lung NSC(271;0.017)|Ovarian(221;0.0228)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;1.34e-31)|all cancers(36;1e-28)|OV - Ovarian serous cystadenocarcinoma(60;3.53e-14)|Kidney(56;4.31e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.35e-08)|BRCA - Breast invasive adenocarcinoma(100;5.64e-06)|Lung(119;0.000596)|LUSC - Lung squamous cell carcinoma(224;0.00481)|Colorectal(34;0.014)|COAD - Colon adenocarcinoma(134;0.0968)		GAGGGGCTGGGGGCCAAGTCC	0.637																																						ENST00000403638.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(20)|ovary(4)|prostate(4)|skin(1)|stomach(1)|urinary_tract(2)	53						c.(1882-1884)Ccc>Tcc		PAS domain containing serine/threonine kinase							64	70	68					2																	242066448		2203	4300	6503	SO:0001583	missense	23178				regulation of transcription, DNA-dependent	Golgi apparatus	ATP binding|identical protein binding|protein serine/threonine kinase activity|signal transducer activity	g.chr2:242066448G>A	U79240	CCDS2545.1, CCDS58758.1, CCDS58759.1	2q37.3	2008-05-23			ENSG00000115687	ENSG00000115687			17270	protein-coding gene	gene with protein product		607505				11688972, 11459942, 15148392	Standard	NM_001252119		Approved	PASKIN, KIAA0135, STK37	uc010fzl.2	Q96RG2	OTTHUMG00000133392	ENST00000405260.1:c.1882C>T	2.37:g.242066448G>A	ENSP00000384016:p.Pro628Ser					PASK_ENST00000405260.1_Missense_Mutation_p.P628S|PASK_ENST00000234040.4_Missense_Mutation_p.P628S|PASK_ENST00000539818.1_Missense_Mutation_p.P412S|PASK_ENST00000544142.1_Missense_Mutation_p.P442S|PASK_ENST00000358649.4_Missense_Mutation_p.P628S	p.P628S	NM_001252124.1	NP_001239053.1	Q96RG2	PASK_HUMAN		Epithelial(32;1.34e-31)|all cancers(36;1e-28)|OV - Ovarian serous cystadenocarcinoma(60;3.53e-14)|Kidney(56;4.31e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.35e-08)|BRCA - Breast invasive adenocarcinoma(100;5.64e-06)|Lung(119;0.000596)|LUSC - Lung squamous cell carcinoma(224;0.00481)|Colorectal(34;0.014)|COAD - Colon adenocarcinoma(134;0.0968)	10	1973	-		all_cancers(19;4.46e-39)|all_epithelial(40;1.34e-17)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00481)|Lung NSC(271;0.017)|Ovarian(221;0.0228)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)	628					G5E9F1|Q05BE4|Q68DY3|Q6GSJ5|Q86XH6|Q99763|Q9UFR7	Missense_Mutation	SNP	ENST00000405260.1	37	c.1882C>T	CCDS2545.1	.	.	.	.	.	.	.	.	.	.	G	6.990	0.552812	0.13374	.	.	ENSG00000115687	ENST00000234040;ENST00000544142;ENST00000405260;ENST00000358649;ENST00000539818;ENST00000403638	T;T;T;T;T;T	0.73363	-0.74;-0.74;-0.74;-0.7;-0.72;0.1	3.17	2.25	0.28309	.	0.903952	0.09397	N	0.807798	T	0.61887	0.2383	L	0.27053	0.805	0.09310	N	1	B;B;B;B;B	0.26809	0.02;0.16;0.16;0.16;0.099	B;B;B;B;B	0.28305	0.016;0.037;0.037;0.088;0.016	T	0.52041	-0.8628	10	0.41790	T	0.15	.	8.6458	0.34005	0.0:0.2376:0.7624:0.0	.	593;442;628;628;628	B7Z7R6;F5GYW7;Q96RG2-2;G5E9F1;Q96RG2	.;.;.;.;PASK_HUMAN	S	628;442;628;628;412;628	ENSP00000234040:P628S;ENSP00000441374:P442S;ENSP00000384016:P628S;ENSP00000351475:P628S;ENSP00000443083:P412S;ENSP00000384438:P628S	ENSP00000234040:P628S	P	-	1	0	PASK	241715121	0.000000	0.05858	0.025000	0.17156	0.006000	0.05464	0.210000	0.17455	0.604000	0.29930	0.561000	0.74099	CCC		0.637	PASK-003	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000323753.1	NM_015148		53	44	0	0	0	1	0	53	44					A	242066448	G	A	242066448	3	1	276	1	0	0	0	0	1	0	0	0	11472	1232	43	3	2125	3	PASK	2	242066448	Missense_Mutation	SNP	G	TCGA-J4-A83I-01A-11D-A364-08	51429830	242066448	1132925	7	12749											
MFI2	4241	broad.mit.edu	37	chr3	196742335	196742335	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccacggccatgtctccacaCttctggatctcgggagtgga	7	9	12	13	2	3	0	0	0	3	0	5	3	3	3	3	4	0	0	3	4	0	1			TCGA-J4-A83I-01A-11D-A364-08	TCGA-J4-A83I-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdeb9e4e-d715-4565-9cb4-40525a0575ad	13d07794-c0fa-4070-9dcd-9cee45840284	g.chr3:196742335C>T	ENST00000296350.5	-	9	1247	c.1134G>A	c.(1132-1134)aaG>aaA	p.K378K		NM_005929.5	NP_005920.2	P08582	TRFM_HUMAN	antigen p97 (melanoma associated) identified by monoclonal antibodies 133.2 and 96.5	378	Transferrin-like 2. {ECO:0000255|PROSITE- ProRule:PRU00741}.				cellular iron ion homeostasis (GO:0006879)|iron ion import (GO:0097286)|negative regulation of substrate adhesion-dependent cell spreading (GO:1900025)|positive regulation of extracellular matrix disassembly (GO:0090091)|positive regulation of plasminogen activation (GO:0010756)	anchored component of plasma membrane (GO:0046658)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	ferric iron binding (GO:0008199)|iron ion binding (GO:0005506)			breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|prostate(1)	20	all_cancers(143;3.95e-09)|Ovarian(172;0.0634)|Breast(254;0.0838)		Epithelial(36;4.55e-24)|all cancers(36;2.87e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00536)		TGTCTCCACACTTCTGGATCT	0.657																																						ENST00000296350.5																			0				breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|prostate(1)	20						c.(1132-1134)aaG>aaA		antigen p97 (melanoma associated) identified by monoclonal antibodies 133.2 and 96.5							28	25	26					3																	196742335		2201	4300	6501	SO:0001819	synonymous_variant	4241				cellular iron ion homeostasis|iron ion transport	anchored to membrane|extracellular region|integral to plasma membrane	ferric iron binding|protein binding	g.chr3:196742335C>T		CCDS3325.1, CCDS3326.1	3q28-q29	2012-10-02			ENSG00000163975	ENSG00000163975		"CD molecules"	7037	protein-coding gene	gene with protein product	"melanotransferrin", "membrane-bound transferrin-like protein"	155750					Standard	NM_033316		Approved	CD228, FLJ38863, MAP97, MGC4856, MTF1	uc003fxk.4	P08582	OTTHUMG00000155518	ENST00000296350.5:c.1134G>A	3.37:g.196742335C>T							p.K378K	NM_005929.5	NP_005920.2	P08582	TRFM_HUMAN	Epithelial(36;4.55e-24)|all cancers(36;2.87e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00536)	9	1247	-	all_cancers(143;3.95e-09)|Ovarian(172;0.0634)|Breast(254;0.0838)		378			Transferrin-like 2.		Q9BQE2	Silent	SNP	ENST00000296350.5	37	c.1134G>A	CCDS3325.1																																																																																				0.657	MFI2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340458.1			6	6	0	0	0	1	0	6	6					T	196742335	C	T	196742335	2	4	276	1	0	0	0	0	0	0	0	1	9522	564	20	3		3	MFI2	3	196742335	Silent	SNP	C	TCGA-J4-A83I-01A-11D-A364-08		196742335	1280095	8	12750											
DCHS2	54798	broad.mit.edu	37	chr4	155254287	155254287	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctctgtcgatggcaaagaCgcctggctgcgggctggcga	6	7	17	11	4	1	1	0	0	1	1	2	3	1	1	1	5	1	4	1	5	1	0			TCGA-J4-A83I-01A-11D-A364-08	TCGA-J4-A83I-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdeb9e4e-d715-4565-9cb4-40525a0575ad	13d07794-c0fa-4070-9dcd-9cee45840284	g.chr4:155254287C>T	ENST00000357232.4	-	9	1575	c.1576G>A	c.(1576-1578)Gtc>Atc	p.V526I	DCHS2_ENST00000339452.1_Missense_Mutation_p.V1025I|DCHS2_ENST00000507542.1_5'UTR	NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	526	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		ATGGCAAAGACGCCTGGCTGC	0.677																																						ENST00000357232.3																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176						c.(1576-1578)Gtc>Atc		dachsous cadherin-related 2							27	30	29					4																	155254287		2203	4300	6503	SO:0001583	missense	54798				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:155254287C>T	BC140919	CCDS3785.1, CCDS47150.1	4q32.1	2014-06-04	2013-10-04	2004-09-03		ENSG00000197410		"Cadherins / Cadherin-related"	23111	protein-coding gene	gene with protein product	"cadherin-related family member 7"	612486	"cadherin-like 27", "dachsous 2 (Drosophila)"	CDH27, PCDH23		15003449	Standard	NM_017639		Approved	CDHJ, FLJ20047, PCDHJ, CDHR7	uc003inw.2	Q6V1P9		ENST00000357232.4:c.1576G>A	4.37:g.155254287C>T	ENSP00000349768:p.Val526Ile					DCHS2_ENST00000507542.1_5'UTR|DCHS2_ENST00000339452.1_Missense_Mutation_p.V1025I	p.V526I	NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN		LUSC - Lung squamous cell carcinoma(193;0.107)	9	1575	-	all_hematologic(180;0.208)	Renal(120;0.0854)	526			Cadherin 4.		B2RU14|E9PC11|Q4W5P9|Q6ZS61|Q9NXU8	Missense_Mutation	SNP	ENST00000357232.4	37	c.1576G>A	CCDS3785.1	.	.	.	.	.	.	.	.	.	.	C	10.20	1.284203	0.23392	.	.	ENSG00000197410	ENST00000357232;ENST00000339452;ENST00000544161	T;T	0.50548	0.74;0.74	5.6	-7.94	0.01152	Cadherin (4);Cadherin-like (1);	1.215770	0.06219	N	0.686378	T	0.18173	0.0436	N	0.02368	-0.58	0.09310	N	0.999999	B;B	0.16396	0.017;0.013	B;B	0.10450	0.005;0.003	T	0.29549	-1.0008	10	0.19147	T	0.46	.	9.9551	0.41661	0.0:0.2571:0.1665:0.5763	.	1025;526	E9PC11;Q6V1P9	.;PCD23_HUMAN	I	526;1025;1025	ENSP00000349768:V526I;ENSP00000345062:V1025I	ENSP00000345062:V1025I	V	-	1	0	DCHS2	155473737	0.000000	0.05858	0.000000	0.03702	0.013000	0.08279	-1.442000	0.02407	-1.601000	0.01601	-0.251000	0.11542	GTC		0.677	DCHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365281.2	NM_001142552		17	29	0	0	0	1	0	17	29					T	155254287	C	T	155254287	3	4	276	1	0	0	0	0	1	0	0	0	4288	536	19	1	7338	1	DCHS2	4	155254287	Missense_Mutation	SNP	C	TCGA-J4-A83I-01A-11D-A364-08		155254287	35899989	9	12751											
MFAP3L	9848	broad.mit.edu	37	chr4	170912697	170912697	+	Silent	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtagaaggttctgcagtttcGggggaatgttccgccgacag	8	10	15	8	3	1	1	0	0	1	1	3	3	2	2	2	3	1	5	2	3	3	4			TCGA-J4-A83I-01A-11D-A364-08	TCGA-J4-A83I-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdeb9e4e-d715-4565-9cb4-40525a0575ad	13d07794-c0fa-4070-9dcd-9cee45840284	g.chr4:170912697G>C	ENST00000361618.3	-	3	1369	c.1062C>G	c.(1060-1062)ccC>ccG	p.P354P	RP11-6E9.4_ENST00000508955.1_RNA|MFAP3L_ENST00000393704.3_Silent_p.P251P	NM_021647.6	NP_067679.6	O75121	MFA3L_HUMAN	microfibrillar-associated protein 3-like	354						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.P354P(1)		cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22		Prostate(90;0.00601)|Renal(120;0.0183)|all_neural(102;0.122)|Melanoma(52;0.17)		GBM - Glioblastoma multiforme(119;0.0201)|LUSC - Lung squamous cell carcinoma(193;0.116)		CTGCAGTTTCGGGGGAATGTT	0.512																																						ENST00000361618.3																			1	Substitution - coding silent(1)	p.P354P(1)	lung(1)	cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						c.(1060-1062)ccC>ccG		microfibrillar-associated protein 3-like							185	155	165					4																	170912697		2203	4300	6503	SO:0001819	synonymous_variant	9848					integral to membrane|plasma membrane		g.chr4:170912697G>C	AB014526	CCDS34103.1, CCDS43281.1	4q33	2014-08-12			ENSG00000198948	ENSG00000198948		"Immunoglobulin superfamily / I-set domain containing"	29083	protein-coding gene	gene with protein product						9734811	Standard	XM_005263366		Approved	KIAA0626, NYD-sp9	uc003isp.4	O75121	OTTHUMG00000160942	ENST00000361618.3:c.1062C>G	4.37:g.170912697G>C						MFAP3L_ENST00000393704.3_Silent_p.P251P|RP11-6E9.4_ENST00000508955.1_RNA	p.P354P	NM_021647.6	NP_067679.6	O75121	MFA3L_HUMAN		GBM - Glioblastoma multiforme(119;0.0201)|LUSC - Lung squamous cell carcinoma(193;0.116)	3	1369	-		Prostate(90;0.00601)|Renal(120;0.0183)|all_neural(102;0.122)|Melanoma(52;0.17)	354					A8K1X6|D3DP35|Q4W5N7|Q4W5N9|Q6TNA8|Q9BVE1|Q9BXK0	Silent	SNP	ENST00000361618.3	37	c.1062C>G	CCDS34103.1																																																																																				0.512	MFAP3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363043.2	NM_021647		37	67	0	0	0	1	0	37	67					C	170912697	G	C	170912697	2	2	276	1	0	0	0	0	0	0	0	1	9516	1103	39	5		5	MFAP3L	4	170912697	Silent	SNP	G	TCGA-J4-A83I-01A-11D-A364-08	15658410	170912697	20241579	10	12752											
DDX46	9879	broad.mit.edu	37	chr5	134152276	134152276	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gaatcaatgcccagaagaatTtgggcatcgagtctcaggta	13	9	11	8	1	2	2	2	0	1	2	4	4	2	2	1	2	1	2	1	2	5	2			TCGA-J4-A83I-01A-11D-A364-08	TCGA-J4-A83I-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdeb9e4e-d715-4565-9cb4-40525a0575ad	13d07794-c0fa-4070-9dcd-9cee45840284	g.chr5:134152276T>C	ENST00000354283.4	+	19	2728	c.2593T>C	c.(2593-2595)Ttg>Ctg	p.L865L	DDX46_ENST00000452510.2_Silent_p.L865L			Q7L014	DDX46_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 46	865					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)			NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			CCAGAAGAATTTGGGCATCGA	0.373																																					Colon(13;391 453 4901 21675 24897)	ENST00000452510.2																			0				NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						c.(2593-2595)Ttg>Ctg		DEAD (Asp-Glu-Ala-Asp) box polypeptide 46							42	45	44					5																	134152276		2203	4300	6503	SO:0001819	synonymous_variant	9879				mRNA processing|RNA splicing	Cajal body|nuclear speck	ATP binding|ATP-dependent helicase activity|RNA binding	g.chr5:134152276T>C		CCDS34240.1, CCDS75306.1	5q31.1	2010-01-25			ENSG00000145833	ENSG00000145833		"DEAD-boxes"	18681	protein-coding gene	gene with protein product							Standard	XM_005272142		Approved	KIAA0801, FLJ25329, PRPF5, Prp5	uc003kzw.3	Q7L014	OTTHUMG00000163072	ENST00000354283.4:c.2593T>C	5.37:g.134152276T>C						DDX46_ENST00000354283.4_Silent_p.L865L	p.L865L	NM_014829.2	NP_055644.2	Q7L014	DDX46_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)		19	2751	+			865					O94894|Q96EI0|Q9Y658	Silent	SNP	ENST00000354283.4	37	c.2593T>C	CCDS34240.1																																																																																				0.373	DDX46-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371584.1	NM_014829		36	45	0	0	0	1	0	36	45					C	134152276	T	C	134152276	2	2	276	1	0	0	0	0	0	0	0	1	4364	1838	64	4		4	DDX46	5	134152276	Silent	SNP	T	TCGA-J4-A83I-01A-11D-A364-08		134152276	46762984	11	12753											
PCDHB6	56130	broad.mit.edu	37	chr5	140531920	140531920	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctggtggtggcgttggcctcGgtgtcgtcgctcttcctctt	0	15	14	12	4	2	0	0	0	2	0	6	0	3	0	2	5	0	2	2	5	0	3	rs558040784		TCGA-J4-A83I-01A-11D-A364-08	TCGA-J4-A83I-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdeb9e4e-d715-4565-9cb4-40525a0575ad	13d07794-c0fa-4070-9dcd-9cee45840284	g.chr5:140531920G>A	ENST00000231136.1	+	1	2082	c.2082G>A	c.(2080-2082)tcG>tcA	p.S694S	PCDHB6_ENST00000543635.1_Silent_p.S558S	NM_018939.2	NP_061762.1	Q9Y5E3	PCDB6_HUMAN	protocadherin beta 6	694					calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CGTTGGCCTCGGTGTCGTCGC	0.692													G|||	1	0.000199681	0	0.0014	5008	,	,		16504	0		0	False		,,,				2504	0					ENST00000231136.1																			0				cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84						c.(2080-2082)tcG>tcA									78	85	82					5																	140531920		2199	4291	6490	SO:0001819	synonymous_variant	0				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	g.chr5:140531920G>A	AF152499	CCDS4248.1	5q31	2010-01-26			ENSG00000113211	ENSG00000113211		"Cadherins / Protocadherins : Clustered"	8691	other	protocadherin		606332				10380929	Standard	NM_018939		Approved	PCDH-BETA6	uc003lir.3	Q9Y5E3	OTTHUMG00000129623	ENST00000231136.1:c.2082G>A	5.37:g.140531920G>A						PCDHB6_ENST00000543635.1_Silent_p.S558S	p.S694S	NM_018939.2	NP_061762.1	Q9Y5E3	PCDB6_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	2082	+			694					B2R8R9	Silent	SNP	ENST00000231136.1	37	c.2082G>A	CCDS4248.1																																																																																				0.692	PCDHB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251818.2	NM_018939		77	123	0	0	0	1	0	77	123					A	140531920	G	A	140531920	2	1	276	1	0	0	0	0	0	0	0	1	11546	1103	39	2		2	PCDHB6	5	140531920	Silent	SNP	G	TCGA-J4-A83I-01A-11D-A364-08	6379644	140531920	40383340	12	12754											
HLA-A	3105	broad.mit.edu	37	chr6	29912007	29912007	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gatcacactgacctggcagcGggatggggaggaccagaccc	10	4	15	12	1	1	2	1	1	0	1	1	6	1	5	3	5	1	1	3	5	0	0	rs41553815		TCGA-J4-A83I-01A-11D-A364-08	TCGA-J4-A83I-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdeb9e4e-d715-4565-9cb4-40525a0575ad	13d07794-c0fa-4070-9dcd-9cee45840284	g.chr6:29912007G>A	ENST00000396634.1	+	6	1069	c.728G>A	c.(727-729)cGg>cAg	p.R243Q	HLA-A_ENST00000376806.5_Missense_Mutation_p.R243Q|HLA-A_ENST00000376809.5_Missense_Mutation_p.R243Q|HLA-A_ENST00000376802.2_Missense_Mutation_p.R243Q			P16189	1A31_HUMAN	major histocompatibility complex, class I, A	243	Alpha-3.|Ig-like C1-type.				antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|regulation of immune response (GO:0050776)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cell surface (GO:0009986)|early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|MHC class I protein complex (GO:0042612)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)	beta-2-microglobulin binding (GO:0030881)|peptide antigen binding (GO:0042605)|TAP binding (GO:0046977)			central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	30						ACCTGGCAGCGGGATGGGGAG	0.632									Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of	Multiple Myeloma(9;0.094)																												ENST00000396634.1																			0				central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	30						c.(727-729)cGg>cAg		major histocompatibility complex, class I, A							41	53	49					6																	29912007		1509	2696	4205	SO:0001583	missense	3105	Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;incl.: Familial Head and Neck Cancer; ;Lichen Sclerosis, Familial	antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway	integral to plasma membrane|MHC class I protein complex	MHC class I receptor activity	g.chr6:29912007G>A	D32129	CCDS34373.1	6p21.3	2013-01-11			ENSG00000206503	ENSG00000206503		"Histocompatibility complex", "Immunoglobulin superfamily / C1-set domain containing"	4931	protein-coding gene	gene with protein product		142800				8838351	Standard	NM_001242758		Approved		uc003nol.3	P01891	OTTHUMG00000130501	ENST00000396634.1:c.728G>A	6.37:g.29912007G>A	ENSP00000379873:p.Arg243Gln	Multiple Myeloma(9;0.094)				HLA-A_ENST00000376802.2_Missense_Mutation_p.R243Q|HLA-A_ENST00000376809.5_Missense_Mutation_p.R243Q|HLA-A_ENST00000376806.5_Missense_Mutation_p.R243Q	p.R243Q			P30443	1A01_HUMAN			6	1069	+			243			Alpha-3.|Ig-like C1-type.		O62924|O98009|O98137|Q8MHM1|Q9TPQ3|Q9TQ24|Q9UQU6|Q9UQU7	Missense_Mutation	SNP	ENST00000396634.1	37	c.728G>A	CCDS34373.1	.	.	.	.	.	.	.	.	.	.	.	11.72	1.724225	0.30593	.	.	ENSG00000206503	ENST00000396634;ENST00000376806;ENST00000536480;ENST00000376809;ENST00000376802	T;T;T;T	0.02916	4.11;4.11;4.11;4.11	3.69	2.8	0.32819	Immunoglobulin-like (4);Immunoglobulin C1-set (8);Immunoglobulin-like fold (4);	0.235279	0.21360	U	0.075807	T	0.01254	0.0041	L	0.57130	1.785	0.22500	N	0.999041	B;B;B;B;B;B;B	0.31485	0.044;0.325;0.015;0.008;0.004;0.008;0.128	B;B;B;B;B;B;B	0.23018	0.001;0.043;0.007;0.003;0.004;0.005;0.019	T	0.42699	-0.9436	10	0.72032	D	0.01	.	8.6885	0.34251	0.0:0.0:0.7739:0.2261	rs41553815	122;243;243;243;243;243;243	B4DVB9;P13746;Q5SRN7;P16188;Q5SRN5;P30455;P04439	.;1A11_HUMAN;.;1A30_HUMAN;.;1A36_HUMAN;1A03_HUMAN	Q	243;243;31;243;243	ENSP00000379873:R243Q;ENSP00000366002:R243Q;ENSP00000366005:R243Q;ENSP00000365998:R243Q	ENSP00000365998:R243Q	R	+	2	0	HLA-A	30019986	0.000000	0.05858	0.993000	0.49108	0.985000	0.73830	0.058000	0.14301	0.870000	0.35726	0.485000	0.47835	CGG		0.632	HLA-A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252909.1	NM_002116		11	93	0	0	0	1	0	11	93					A	29912007	G	A	29912007	3	1	276	1	0	0	0	0	1	0	0	0	7195	1116	39	2	742	2	HLA-A	6	29912007	Missense_Mutation	SNP	G	TCGA-J4-A83I-01A-11D-A364-08		29912007	141203060	13	12755											
FILIP1	27145	broad.mit.edu	37	chr6	76124576	76124576	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcctatttgatttcttcttcTtttttgcatcttctgagaga	6	22	5	8	0	5	3	0	2	5	1	6	4	6	3	1	0	1	1	1	0	1	9			TCGA-J4-A83I-01A-11D-A364-08	TCGA-J4-A83I-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdeb9e4e-d715-4565-9cb4-40525a0575ad	13d07794-c0fa-4070-9dcd-9cee45840284	g.chr6:76124576T>G	ENST00000237172.7	-	2	443	c.113A>C	c.(112-114)aAg>aCg	p.K38T	FILIP1_ENST00000393004.2_Missense_Mutation_p.K38T	NM_015687.2	NP_056502.1	Q7Z7B0	FLIP1_HUMAN	filamin A interacting protein 1	38	Poly-Lys.									breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						TTTCTTCTTCTTTTTTGCATC	0.428																																						ENST00000393004.2																			0				breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						c.(112-114)aAg>aCg		filamin A interacting protein 1							200	196	198					6																	76124576		2203	4300	6503	SO:0001583	missense	27145							g.chr6:76124576T>G	AB033101	CCDS4984.1, CCDS75480.1	6q14.1	2008-02-05			ENSG00000118407	ENSG00000118407			21015	protein-coding gene	gene with protein product		607307				10574462	Standard	XM_005248713		Approved	FILIP, KIAA1275	uc003pia.3	Q7Z7B0	OTTHUMG00000015056	ENST00000237172.7:c.113A>C	6.37:g.76124576T>G	ENSP00000237172:p.Lys38Thr					FILIP1_ENST00000237172.7_Missense_Mutation_p.K38T	p.K38T			Q7Z7B0	FLIP1_HUMAN			2	334	-			38			Poly-Lys.		B2RMU6|Q5VUL6|Q86TC3|Q8N8B9|Q96SK6|Q9NVI8|Q9ULE5	Missense_Mutation	SNP	ENST00000237172.7	37	c.113A>C	CCDS4984.1	.	.	.	.	.	.	.	.	.	.	T	13.41	2.228688	0.39399	.	.	ENSG00000118407	ENST00000393004;ENST00000237172	T;T	0.19669	2.13;2.13	5.55	3.15	0.36227	.	0.114441	0.64402	D	0.000016	T	0.10165	0.0249	L	0.27053	0.805	0.30524	N	0.768125	P;P;D	0.55385	0.759;0.917;0.971	B;B;P	0.52343	0.245;0.401;0.696	T	0.08889	-1.0700	10	0.40728	T	0.16	-13.9808	9.9176	0.41444	0.0:0.1385:0.0:0.8615	.	38;38;38	A8K2G7;Q7Z7B0;Q7Z7B0-2	.;FLIP1_HUMAN;.	T	38	ENSP00000376728:K38T;ENSP00000237172:K38T	ENSP00000237172:K38T	K	-	2	0	FILIP1	76181296	1.000000	0.71417	0.999000	0.59377	0.982000	0.71751	4.119000	0.57891	0.391000	0.25143	-0.256000	0.11100	AAG		0.428	FILIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041263.1	XM_029179		80	92	0	0	0	1	0	80	92					G	76124576	T	G	76124576	3	3	276	1	0	0	0	0	1	0	0	0	5894	1609	56	5	3548	5	FILIP1	6	76124576	Missense_Mutation	SNP	T	TCGA-J4-A83I-01A-11D-A364-08	46212569	76124576	94990491	14	12756											
FOXP2	93986	broad.mit.edu	37	chr7	114271580	114271582	+	Splice_Site	DEL	CAG	CAG	-																															tggtttgggttttctgatacCagcagcagcagcagcagcag																										TCGA-J4-A83I-01A-11D-A364-08	TCGA-J4-A83I-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdeb9e4e-d715-4565-9cb4-40525a0575ad	13d07794-c0fa-4070-9dcd-9cee45840284	g.chr7:114271580_114271582delCAG	ENST00000393494.2	+	6	876		c.e6-1		AC020606.1_ENST00000580664.1_RNA|FOXP2_ENST00000393491.3_Splice_Site|FOXP2_ENST00000393500.3_Splice_Site|FOXP2_ENST00000408937.3_Splice_Site|FOXP2_ENST00000390668.3_Splice_Site|FOXP2_ENST00000378237.3_Splice_Site|FOXP2_ENST00000393489.3_Splice_Site|FOXP2_ENST00000350908.4_Splice_Site|FOXP2_ENST00000360232.4_Splice_Site|FOXP2_ENST00000403559.4_Splice_Site|FOXP2_ENST00000393498.2_Intron			O15409	FOXP2_HUMAN	forkhead box P2						camera-type eye development (GO:0043010)|caudate nucleus development (GO:0021757)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|growth (GO:0040007)|lung alveolus development (GO:0048286)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of epithelial cell proliferation involved in lung morphogenesis (GO:0060501)|positive regulation of mesenchymal cell proliferation (GO:0002053)|post-embryonic development (GO:0009791)|putamen development (GO:0021758)|righting reflex (GO:0060013)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|vocal learning (GO:0042297)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.?(3)		breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						TTTCTGATACcagcagcagcagc	0.512																																						ENST00000393500.3																			3	Unknown(3)	p.?(3)	endometrium(3)	breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						c.e12-1		forkhead box P2																																				SO:0001630	splice_region_variant	93986				camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding	g.chr7:114271580_114271582delCAG	U80741	CCDS5760.1, CCDS5761.1, CCDS43635.1, CCDS5761.2, CCDS55154.1	7q31	2008-07-18			ENSG00000128573	ENSG00000128573		"Forkhead boxes"	13875	protein-coding gene	gene with protein product	"trinucleotide repeat containing 10", "forkhead/winged-helix transcription factor", "speech and language disorder 1", "CAG repeat protein 44"	605317		TNRC10, SPCH1		11586359, 9225980	Standard	NM_014491		Approved	CAGH44	uc003vgz.3	O15409	OTTHUMG00000023131	ENST00000393494.2:c.598-1CAG>-	7.37:g.114271589_114271591delCAG						FOXP2_ENST00000360232.4_Splice_Site|FOXP2_ENST00000408937.3_Splice_Site|FOXP2_ENST00000393494.2_Splice_Site|FOXP2_ENST00000403559.4_Splice_Site|FOXP2_ENST00000393489.3_Splice_Site|FOXP2_ENST00000378237.3_Splice_Site|FOXP2_ENST00000390668.3_Splice_Site|FOXP2_ENST00000393498.2_Intron|FOXP2_ENST00000350908.4_Splice_Site|FOXP2_ENST00000393491.3_Splice_Site				O15409	FOXP2_HUMAN			12	1192	+								A0AUV6|A4D0U8|A6NNW4|B4DLD9|Q6ZND1|Q75MJ3|Q8IZE0|Q8N0W2|Q8N6B7|Q8N6B8|Q8NFQ1|Q8NFQ2|Q8NFQ3|Q8NFQ4|Q8TD74	Splice_Site	DEL	ENST00000393494.2	37		CCDS5760.1																																																																																				0.512	FOXP2-014	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317366.1	NM_014491	Intron	4	6						4	6	---	---	---	---	-	114271582	CAG	-	114271580	8	5	276	1	0	1	0	1	0	0	1	0	6027	609	21	0		0	FOXP2	7	114271580	Splice_Site	DEL	CAG	TCGA-J4-A83I-01A-11D-A364-08		114271580	44867083	15	12757											
FZD6	8323	broad.mit.edu	37	chr8	104330852	104330852	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcaaatctggaatgttcacCaaacattgaaactttcctct	13	12	5	11	1	3	1	1	1	2	0	4	2	4	2	2	1	2	2	2	1	4	3			TCGA-J4-A83I-01A-11D-A364-08	TCGA-J4-A83I-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdeb9e4e-d715-4565-9cb4-40525a0575ad	13d07794-c0fa-4070-9dcd-9cee45840284	g.chr8:104330852C>T	ENST00000358755.4	+	3	529	c.212C>T	c.(211-213)cCa>cTa	p.P71L	FZD6_ENST00000522566.1_Missense_Mutation_p.P71L|FZD6_ENST00000523739.1_Missense_Mutation_p.P39L|FZD6_ENST00000540287.1_Intron	NM_001164616.1|NM_003506.3	NP_001158088.1|NP_003497.2	O60353	FZD6_HUMAN	frizzled class receptor 6	71	FZ. {ECO:0000255|PROSITE- ProRule:PRU00090}.				angiogenesis (GO:0001525)|axonogenesis (GO:0007409)|cell proliferation in midbrain (GO:0033278)|embryonic nail plate morphogenesis (GO:0035880)|establishment of planar polarity (GO:0001736)|G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:0007199)|gonad development (GO:0008406)|hair follicle development (GO:0001942)|inner ear morphogenesis (GO:0042472)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|neural tube closure (GO:0001843)|non-canonical Wnt signaling pathway (GO:0035567)|platelet activation (GO:0030168)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	apical part of cell (GO:0045177)|apicolateral plasma membrane (GO:0016327)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|neuron projection membrane (GO:0032589)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|ubiquitin protein ligase binding (GO:0031625)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	24			OV - Ovarian serous cystadenocarcinoma(57;2.86e-05)|STAD - Stomach adenocarcinoma(118;0.197)			GAATGTTCACCAAACATTGAA	0.308																																						ENST00000358755.4																			0				central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	24						c.(211-213)cCa>cTa		frizzled family receptor 6							86	86	86					8																	104330852		2203	4300	6503	SO:0001583	missense	8323				angiogenesis|axonogenesis|cell proliferation in midbrain|establishment of planar polarity|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|inner ear morphogenesis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of sequence-specific DNA binding transcription factor activity|neural tube closure|non-canonical Wnt receptor signaling pathway	apical part of cell|apicolateral plasma membrane|cytoplasm|integral to plasma membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding	g.chr8:104330852C>T	AB012911	CCDS6298.1, CCDS55268.1	8q22.3-q23.1	2014-01-29	2014-01-29		ENSG00000164930	ENSG00000164930		"GPCR / Class F : Frizzled receptors"	4044	protein-coding gene	gene with protein product		603409	"frizzled (Drosophila) homolog 6", "frizzled homolog 6 (Drosophila)", "frizzled 6, seven transmembrane spanning receptor", "frizzled family receptor 6"			9480858, 14747478	Standard	NM_003506		Approved	Hfz6	uc003ylh.3	O60353	OTTHUMG00000164840	ENST00000358755.4:c.212C>T	8.37:g.104330852C>T	ENSP00000351605:p.Pro71Leu					FZD6_ENST00000540287.1_Intron|FZD6_ENST00000523739.1_Missense_Mutation_p.P39L|FZD6_ENST00000522566.1_Missense_Mutation_p.P71L	p.P71L	NM_001164616.1|NM_003506.3	NP_001158088.1|NP_003497.2	O60353	FZD6_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;2.86e-05)|STAD - Stomach adenocarcinoma(118;0.197)		3	529	+			71			FZ.		B4DRN0|Q6N0A5|Q6P9C3|Q8WXR9	Missense_Mutation	SNP	ENST00000358755.4	37	c.212C>T	CCDS6298.1	.	.	.	.	.	.	.	.	.	.	C	24.8	4.566744	0.86439	.	.	ENSG00000164930	ENST00000522566;ENST00000358755;ENST00000523739;ENST00000539487	T;T;T	0.76709	-1.04;-1.04;-1.04	5.75	4.87	0.63330	Frizzled domain (5);	0.100132	0.64402	N	0.000001	D	0.88724	0.6514	M	0.84846	2.72	0.80722	D	1	D;D;D	0.89917	0.998;1.0;0.998	D;D;D	0.87578	0.983;0.998;0.983	D	0.90078	0.4168	10	0.59425	D	0.04	.	14.514	0.67807	0.0:0.93:0.0:0.07	.	16;71;71	B4E236;B2R9H9;O60353	.;.;FZD6_HUMAN	L	71;71;39;16	ENSP00000429055:P71L;ENSP00000351605:P71L;ENSP00000429528:P39L	ENSP00000351605:P71L	P	+	2	0	FZD6	104400028	0.987000	0.35691	0.975000	0.42487	0.976000	0.68499	3.007000	0.49536	1.435000	0.47434	0.655000	0.94253	CCA		0.308	FZD6-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380560.1	NM_003506		43	50	0	0	0	1	0	43	50					T	104330852	C	T	104330852	3	4	276	1	0	0	0	0	1	0	0	0	6134	594	21	3	218	3	FZD6	8	104330852	Missense_Mutation	SNP	C	TCGA-J4-A83I-01A-11D-A364-08		104330852	42033170	16	12758											
RNF20	56254	broad.mit.edu	37	chr9	104314097	104314097	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	acccttgctgccaatgaacaAgcaggtataatgattctcac	13	10	7	11	0	1	2	1	2	1	0	2	2	1	2	2	1	4	3	2	1	5	4			TCGA-J4-A83I-01A-11D-A364-08	TCGA-J4-A83I-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdeb9e4e-d715-4565-9cb4-40525a0575ad	13d07794-c0fa-4070-9dcd-9cee45840284	g.chr9:104314097A>G	ENST00000389120.3	+	11	1494	c.1404A>G	c.(1402-1404)caA>caG	p.Q468Q	AL591377.1_ENST00000584534.1_RNA	NM_019592.5	NP_062538.5	Q5VTR2	BRE1A_HUMAN	ring finger protein 20, E3 ubiquitin protein ligase	468					histone H2B ubiquitination (GO:0033523)|histone monoubiquitination (GO:0010390)|negative regulation of cell migration (GO:0030336)|positive regulation of histone methylation (GO:0031062)|positive regulation of transcription, DNA-templated (GO:0045893)|protein polyubiquitination (GO:0000209)|regulation of transcription, DNA-templated (GO:0006355)|ubiquitin-dependent protein catabolic process (GO:0006511)	HULC complex (GO:0033503)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	chromatin binding (GO:0003682)|histone binding (GO:0042393)|ligase activity (GO:0016874)|p53 binding (GO:0002039)|transcription coactivator activity (GO:0003713)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|endometrium(3)|kidney(6)|large_intestine(7)|lung(23)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	54		all_hematologic(171;8.99e-06)|Acute lymphoblastic leukemia(62;0.000365)|Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;2.88e-19)|STAD - Stomach adenocarcinoma(157;0.00311)		CCAATGAACAAGCAGGTATAA	0.433																																						ENST00000389120.3																			0				breast(3)|endometrium(3)|kidney(6)|large_intestine(7)|lung(23)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						c.(1402-1404)caA>caG		ring finger protein 20, E3 ubiquitin protein ligase							87	84	85					9																	104314097		2203	4300	6503	SO:0001819	synonymous_variant	56254				histone H2B ubiquitination|histone monoubiquitination|negative regulation of cell migration|positive regulation of transcription, DNA-dependent|protein polyubiquitination|ubiquitin-dependent protein catabolic process	nucleolus|ubiquitin ligase complex	histone binding|p53 binding|transcription coactivator activity|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr9:104314097A>G	AF265230	CCDS35084.1	9q22	2012-02-23	2012-02-23	2008-12-12	ENSG00000155827	ENSG00000155827		"RING-type (C3HC4) zinc fingers"	10062	protein-coding gene	gene with protein product	"BRE1 E3 ubiquitin ligase homolog (S. cerevisiae)"	607699	"ring finger protein 20"			16337599, 12876294, 18832071, 19037095	Standard	NM_019592		Approved	FLJ20382, FLJ11189, KAIA2779, BRE1A, hBRE1, BRE1	uc004bbn.3	Q5VTR2	OTTHUMG00000020385	ENST00000389120.3:c.1404A>G	9.37:g.104314097A>G							p.Q468Q	NM_019592.5	NP_062538.5	Q5VTR2	BRE1A_HUMAN		OV - Ovarian serous cystadenocarcinoma(323;2.88e-19)|STAD - Stomach adenocarcinoma(157;0.00311)	11	1494	+		all_hematologic(171;8.99e-06)|Acute lymphoblastic leukemia(62;0.000365)|Myeloproliferative disorder(762;0.0255)	468					A7MCT5|Q2TB34|Q69YL5|Q6P527|Q8N3J4|Q96JD3|Q9H9Y7|Q9HA51|Q9NUR4|Q9NWQ3|Q9NX83	Silent	SNP	ENST00000389120.3	37	c.1404A>G	CCDS35084.1																																																																																				0.433	RNF20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356402.1	NM_019592		31	44	0	0	0	1	0	31	44					G	104314097	A	G	104314097	2	3	276	1	0	0	0	0	0	0	0	1	13473	69	3	4		4	RNF20	9	104314097	Silent	SNP	A	TCGA-J4-A83I-01A-11D-A364-08		104314097	36899334	17	12759											
TOR1B	27348	broad.mit.edu	37	chr9	132571230	132571230	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agacggctcttgacttttggCgggccggaagaaagagggaa	11	7	16	7	3	1	4	0	1	1	3	1	6	1	6	1	5	0	1	1	5	3	3			TCGA-J4-A83I-01A-11D-A364-08	TCGA-J4-A83I-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdeb9e4e-d715-4565-9cb4-40525a0575ad	13d07794-c0fa-4070-9dcd-9cee45840284	g.chr9:132571230C>T	ENST00000259339.2	+	4	748	c.688C>T	c.(688-690)Cgg>Tgg	p.R230W		NM_014506.1	NP_055321.1	O14657	TOR1B_HUMAN	torsin family 1, member B (torsin B)	230					ATP catabolic process (GO:0006200)|chaperone mediated protein folding requiring cofactor (GO:0051085)|endoplasmic reticulum organization (GO:0007029)|nuclear membrane organization (GO:0071763)|protein homooligomerization (GO:0051260)|response to unfolded protein (GO:0006986)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear envelope (GO:0005635)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			endometrium(3)|kidney(1)|large_intestine(1)|lung(7)	12		Ovarian(14;0.0586)				TGACTTTTGGCGGGCCGGAAG	0.448																																						ENST00000259339.2																			0				endometrium(3)|kidney(1)|large_intestine(1)|lung(7)	12						c.(688-690)Cgg>Tgg		torsin family 1, member B (torsin B)							79	89	86					9																	132571230		2203	4300	6503	SO:0001583	missense	27348				chaperone mediated protein folding requiring cofactor|response to unfolded protein	endoplasmic reticulum lumen	ATP binding|nucleoside-triphosphatase activity|unfolded protein binding	g.chr9:132571230C>T	AF007872	CCDS6929.1	9q34	2008-07-21			ENSG00000136816	ENSG00000136816			11995	protein-coding gene	gene with protein product		608050				9288096, 10644435	Standard	NM_014506		Approved	DQ1, MGC4386	uc004byk.1	O14657	OTTHUMG00000020795	ENST00000259339.2:c.688C>T	9.37:g.132571230C>T	ENSP00000259339:p.Arg230Trp						p.R230W	NM_014506.1	NP_055321.1	O14657	TOR1B_HUMAN			4	748	+		Ovarian(14;0.0586)	230						Missense_Mutation	SNP	ENST00000259339.2	37	c.688C>T	CCDS6929.1	.	.	.	.	.	.	.	.	.	.	C	12.67	2.006915	0.35415	.	.	ENSG00000136816	ENST00000259339;ENST00000437263	T	0.31510	1.49	4.72	0.246	0.15516	ATPase, AAA+ type, core (1);	0.427868	0.26616	N	0.023396	T	0.40473	0.1118	M	0.75777	2.31	0.31068	N	0.713378	D	0.76494	0.999	P	0.55455	0.776	T	0.46119	-0.9214	10	0.87932	D	0	-20.7739	4.9503	0.14011	0.6293:0.1885:0.0964:0.0858	.	230	O14657	TOR1B_HUMAN	W	230;199	ENSP00000259339:R230W	ENSP00000259339:R230W	R	+	1	2	TOR1B	131611051	0.902000	0.30710	0.248000	0.24265	0.033000	0.12548	1.825000	0.39081	-0.108000	0.12066	-0.145000	0.13849	CGG		0.448	TOR1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054615.1	NM_014506		4	74	0	0	0	1	0	4	74					T	132571230	C	T	132571230	3	4	276	1	0	0	0	0	1	0	0	0	16371	759	27	1	702	1	TOR1B	9	132571230	Missense_Mutation	SNP	C	TCGA-J4-A83I-01A-11D-A364-08	28257133	132571230	8642201	18	12760											
C9orf37	85026	broad.mit.edu	37	chr9	140510297	140510297	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgctgcttctcccctgcccaCgtctccaaggcctgaaaggc	6	8	9	18	2	2	1	0	1	2	0	4	1	2	1	5	2	2	2	5	2	2	1	rs111459138	byFrequency	TCGA-J4-A83I-01A-11D-A364-08	TCGA-J4-A83I-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdeb9e4e-d715-4565-9cb4-40525a0575ad	13d07794-c0fa-4070-9dcd-9cee45840284	g.chr9:140510297C>T	ENST00000371417.3	-	3	895	c.355G>A	c.(355-357)Gtg>Atg	p.V119M	C9orf37_ENST00000496793.1_5'UTR	NM_032937.4	NP_116326.2	Q9H2J1	CI037_HUMAN		119										breast(1)|large_intestine(2)	3	all_cancers(76;0.106)			OV - Ovarian serous cystadenocarcinoma(145;0.000275)|Epithelial(140;0.00047)		CCCCTGCCCACGTCTCCAAGG	0.657																																						ENST00000371417.3																			0				breast(1)|large_intestine(2)	3						c.(355-357)Gtg>Atg		chromosome 9 open reading frame 37							42	43	43					9																	140510297		2202	4300	6502	SO:0001583	missense	85026							g.chr9:140510297C>T																												ENST00000371417.3:c.355G>A	9.37:g.140510297C>T	ENSP00000360471:p.Val119Met					C9orf37_ENST00000496793.1_5'UTR	p.V119M	NM_032937.4	NP_116326.2	Q9H2J1	CI037_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;0.000275)|Epithelial(140;0.00047)	3	895	-	all_cancers(76;0.106)		119					Q17RM5|Q5T368	Missense_Mutation	SNP	ENST00000371417.3	37	c.355G>A	CCDS35189.1	.	.	.	.	.	.	.	.	.	.	C	13.30	2.195146	0.38806	.	.	ENSG00000203993	ENST00000371417	.	.	.	2.72	-5.45	0.02616	.	.	.	.	.	T	0.18467	0.0443	N	0.08118	0	0.09310	N	1	D	0.61697	0.99	P	0.54431	0.752	T	0.11084	-1.0602	8	0.87932	D	0	.	1.602	0.02676	0.295:0.3217:0.2657:0.1175	.	119	Q9H2J1	CI037_HUMAN	M	119	.	ENSP00000360471:V119M	V	-	1	0	C9orf37	139630118	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	-1.511000	0.02260	-1.491000	0.01840	-0.538000	0.04264	GTG		0.657	C9orf37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055328.1			22	37	0	0	0	1	0	22	37					T	140510297	C	T	140510297	3	4	276	1	0	0	0	0	1	0	0	0	2479	536	19	1	179	1	C9orf37	9	140510297	Missense_Mutation	SNP	C	TCGA-J4-A83I-01A-11D-A364-08	7939067	140510297	703134	19	12761											
C10orf140	387640	broad.mit.edu	37	chr10	21804625	21804625	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccctttgtatcattgcactcGcactttagcttatttgtaaa	9	17	5	10	1	1	0	1	0	0	0	2	0	1	0	1	0	2	5	1	0	5	8			TCGA-J4-A83I-01A-11D-A364-08	TCGA-J4-A83I-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdeb9e4e-d715-4565-9cb4-40525a0575ad	13d07794-c0fa-4070-9dcd-9cee45840284	g.chr10:21804625G>A	ENST00000449193.2	-	4	4379	c.2127C>T	c.(2125-2127)tgC>tgT	p.C709C	SKIDA1_ENST00000444772.3_Silent_p.C630C	NM_207371.3	NP_997254.3	Q1XH10	SKDA1_HUMAN	SKI/DACH domain containing 1	628						nucleus (GO:0005634)											CATTGCACTCGCACTTTAGCT	0.393																																						ENST00000449193.2																			0											c.(2125-2127)tgC>tgT		SKI/DACH domain containing 1							213	215	215					10																	21804625		1933	4132	6065	SO:0001819	synonymous_variant	387640							g.chr10:21804625G>A	AK131456	CCDS44363.1	10p12.31	2012-06-13	2012-06-13	2012-06-13	ENSG00000180592	ENSG00000180592			32697	protein-coding gene	gene with protein product			"chromosome 10 open reading frame 140"	C10orf140			Standard	NM_207371		Approved	FLJ45187	uc021pnx.1	Q1XH10	OTTHUMG00000017797	ENST00000449193.2:c.2127C>T	10.37:g.21804625G>A						SKIDA1_ENST00000444772.3_Silent_p.C630C	p.C709C	NM_207371.3	NP_997254.3					4	4379	-								B1ANA5|Q6ZMX4|Q8N3C3	Silent	SNP	ENST00000449193.2	37	c.2127C>T	CCDS44363.1																																																																																				0.393	SKIDA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286950.2	NM_207371		4	195	0	0	0	1	0	4	195					A	21804625	G	A	21804625	2	1	276	1	0	0	0	0	0	0	0	1	1595	1079	38	1		1	C10orf140	10	21804625	Silent	SNP	G	TCGA-J4-A83I-01A-11D-A364-08		21804625	113730122	20	12762											
KRTAP5-3	387266	broad.mit.edu	37	chr11	1629259	1629259	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cagccacaagaaccgcagccCcccttggagcccccacgaaa	12	2	8	19	2	0	1	0	0	0	1	0	3	0	2	7	1	4	1	7	1	3	1			TCGA-J4-A83I-01A-11D-A364-08	TCGA-J4-A83I-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdeb9e4e-d715-4565-9cb4-40525a0575ad	13d07794-c0fa-4070-9dcd-9cee45840284	g.chr11:1629259C>T	ENST00000399685.1	-	1	434	c.357G>A	c.(355-357)ggG>ggA	p.G119G		NM_001012708.2	NP_001012726.1	Q6L8H2	KRA53_HUMAN	keratin associated protein 5-3	119	11 X 4 AA repeats of C-C-X-P.					keratin filament (GO:0045095)				endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	8		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000618)|Lung(200;0.0684)|LUSC - Lung squamous cell carcinoma(625;0.0822)		AACCGCAGCCCCCCTTGGAGC	0.647																																						ENST00000399685.1																			0				endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	8						c.(355-357)ggG>ggA		keratin associated protein 5-3							70	91	84					11																	1629259		2198	4299	6497	SO:0001819	synonymous_variant	387266					keratin filament		g.chr11:1629259C>T	AB126072	CCDS41591.1	11p15.5	2008-02-05			ENSG00000196224	ENSG00000196224		"Keratin associated proteins"	23598	protein-coding gene	gene with protein product						15144888	Standard	NM_001012708		Approved	KRTAP5.3, KRTAP5-9	uc001ltw.1	Q6L8H2	OTTHUMG00000057559	ENST00000399685.1:c.357G>A	11.37:g.1629259C>T							p.G119G	NM_001012708.2	NP_001012726.1	Q6L8H2	KRA53_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.000618)|Lung(200;0.0684)|LUSC - Lung squamous cell carcinoma(625;0.0822)	1	434	-		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	119			11 X 4 AA repeats of C-C-X-P.		Q6PL44|Q701N3	Silent	SNP	ENST00000399685.1	37	c.357G>A	CCDS41591.1																																																																																				0.647	KRTAP5-3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127924.1			6	171	0	0	0	1	0	6	171					T	1629259	C	T	1629259	2	4	276	1	0	0	0	0	0	0	0	1	8562	610	22	3		3	KRTAP5-3	11	1629259	Silent	SNP	C	TCGA-J4-A83I-01A-11D-A364-08		1629259	133377257	21	12763											
NAT10	55226	broad.mit.edu	37	chr11	34144132	34144132	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tggcgattgctggggcggtgGcatttgggtaaggggattca	6	11	19	5	2	1	0	1	0	0	0	1	2	1	1	0	8	1	3	0	8	1	4			TCGA-J4-A83I-01A-11D-A364-08	TCGA-J4-A83I-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdeb9e4e-d715-4565-9cb4-40525a0575ad	13d07794-c0fa-4070-9dcd-9cee45840284	g.chr11:34144132G>A	ENST00000257829.3	+	9	1113	c.907G>A	c.(907-909)Gca>Aca	p.A303T	NAT10_ENST00000527971.1_Intron|NAT10_ENST00000531159.2_Missense_Mutation_p.A231T	NM_024662.2	NP_078938	Q9H0A0	NAT10_HUMAN	N-acetyltransferase 10 (GCN5-related)	303						membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|N-acetyltransferase activity (GO:0008080)|poly(A) RNA binding (GO:0044822)			endometrium(4)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	23		Acute lymphoblastic leukemia(5;0.0119)|all_hematologic(20;0.0231)				TGGGGCGGTGGCATTTGGGTA	0.572																																						ENST00000257829.3																			0				endometrium(4)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	23						c.(907-909)Gca>Aca		N-acetyltransferase 10 (GCN5-related)							52	50	50					11																	34144132		2202	4298	6500	SO:0001583	missense	55226					nucleolus	ATP binding|N-acetyltransferase activity|protein binding	g.chr11:34144132G>A	AF489535	CCDS7889.1, CCDS44568.1	11p13	2011-11-16	2008-09-24		ENSG00000135372	ENSG00000135372	2.3.1.-		29830	protein-coding gene	gene with protein product		609221	"N-acetyltransferase 10"			14592445, 21177859	Standard	NM_024662		Approved	hALP, FLJ10774, FLJ12179, NET43, KIAA1709	uc001mvk.3	Q9H0A0	OTTHUMG00000166249	ENST00000257829.3:c.907G>A	11.37:g.34144132G>A	ENSP00000257829:p.Ala303Thr					NAT10_ENST00000527971.1_Intron|NAT10_ENST00000531159.2_Missense_Mutation_p.A231T	p.A303T	NM_024662.2	NP_078938.2	Q9H0A0	NAT10_HUMAN			9	1113	+		Acute lymphoblastic leukemia(5;0.0119)|all_hematologic(20;0.0231)	303					B4DFD5|E7ESU4|E9PMN9|Q86WK5|Q9C0F4|Q9HA61|Q9NVF2	Missense_Mutation	SNP	ENST00000257829.3	37	c.907G>A	CCDS7889.1	.	.	.	.	.	.	.	.	.	.	G	28.4	4.918876	0.92249	.	.	ENSG00000135372	ENST00000257829;ENST00000531159	T;T	0.46063	0.88;0.88	5.88	5.88	0.94601	Domain of unknown function DUF699, exodeoxyribonuclease V alpha chain (1);	0.046712	0.85682	D	0.000000	T	0.53867	0.1823	M	0.77313	2.365	0.80722	D	1	P	0.35192	0.489	B	0.39935	0.314	T	0.54741	-0.8248	10	0.51188	T	0.08	-14.4296	19.8509	0.96740	0.0:0.0:1.0:0.0	.	303	Q9H0A0	NAT10_HUMAN	T	303;231	ENSP00000257829:A303T;ENSP00000433011:A231T	ENSP00000257829:A303T	A	+	1	0	NAT10	34100708	1.000000	0.71417	1.000000	0.80357	0.895000	0.52256	9.591000	0.98241	2.797000	0.96272	0.561000	0.74099	GCA		0.572	NAT10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388693.1	NM_024662		3	58	0	0	0	1	0	3	58					A	34144132	G	A	34144132	3	1	276	1	0	0	0	0	1	0	0	0	10174	1203	42	3	937	3	NAT10	11	34144132	Missense_Mutation	SNP	G	TCGA-J4-A83I-01A-11D-A364-08	32514873	34144132	100862384	22	12764											
OR4P4	81300	broad.mit.edu	37	chr11	55405837	55405838	+	Frame_Shift_Ins	INS	-	-	A																															ctatctacactggaccatggINSaaaaaagcaataatagcact																										TCGA-J4-A83I-01A-11D-A364-08	TCGA-J4-A83I-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdeb9e4e-d715-4565-9cb4-40525a0575ad	13d07794-c0fa-4070-9dcd-9cee45840284	g.chr11:55405837_55405838insA	ENST00000314612.2	+	1	4_5	c.4_5insA	c.(4-6)gaafs	p.E2fs		NM_001004124.1	NP_001004124.1	Q8NGL7	OR4P4_HUMAN	olfactory receptor, family 4, subfamily P, member 4	2						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			autonomic_ganglia(1)|central_nervous_system(1)|kidney(4)|large_intestine(4)|lung(28)|ovary(1)|upper_aerodigestive_tract(1)	40						CTGGACCATGGAAAAAAGCAAT	0.302																																						ENST00000314612.2																			0				autonomic_ganglia(1)|central_nervous_system(1)|kidney(4)|large_intestine(4)|lung(28)|ovary(1)|upper_aerodigestive_tract(1)	40						c.(4-6)aaafs		olfactory receptor, family 4, subfamily P, member 4																																				SO:0001589	frameshift_variant	81300				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55405837_55405838insA	AB065775	CCDS31504.1	11q11	2012-08-09			ENSG00000181927	ENSG00000181927		"GPCR / Class A : Olfactory receptors"	15180	protein-coding gene	gene with protein product				OR4P3P			Standard	NM_001004124		Approved		uc010rij.2	Q8NGL7	OTTHUMG00000165300	ENST00000314612.2:c.10dupA	11.37:g.55405843_55405843dupA	ENSP00000324831:p.Glu2fs						p.K2fs	NM_001004124.1	NP_001004124.1	Q8NGL7	OR4P4_HUMAN			1	4_5	+			2						Frame_Shift_Ins	INS	ENST00000314612.2	37	c.4_5insA	CCDS31504.1																																																																																				0.302	OR4P4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383356.1	NM_001004124		61	28						61	28	---	---	---	---	A	55405838	-	A	55405837	7	5	276	1	0	1	1	0	0	0	0	0	11080	1175	41	0	6	0	OR4P4	11	55405837	Frame_Shift_Ins	INS	-	TCGA-J4-A83I-01A-11D-A364-08	21261705	55405837	79600679	23	12765											
ZW10	9183	broad.mit.edu	37	chr11	113639666	113639666	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aggaattcactgtacttcttGctaatcatattgcacacctc	11	14	5	11	0	3	0	2	0	1	0	4	1	3	1	1	1	3	3	1	1	4	7			TCGA-J4-A83I-01A-11D-A364-08	TCGA-J4-A83I-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdeb9e4e-d715-4565-9cb4-40525a0575ad	13d07794-c0fa-4070-9dcd-9cee45840284	g.chr11:113639666G>C	ENST00000200135.3	-	2	273	c.129C>G	c.(127-129)agC>agG	p.S43R	RP11-667M19.2_ENST00000543486.1_RNA	NM_004724.3	NP_004715.1	O43264	ZW10_HUMAN	zw10 kinetochore protein	43	Interaction with RINT1.|Interaction with ZWINT.				ER to Golgi vesicle-mediated transport (GO:0006888)|establishment of mitotic spindle orientation (GO:0000132)|meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic metaphase plate congression (GO:0007080)|mitotic sister chromatid segregation (GO:0000070)|protein complex assembly (GO:0006461)|protein localization to kinetochore (GO:0034501)|protein transport (GO:0015031)|regulation of exit from mitosis (GO:0007096)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|kinetochore (GO:0000776)|kinetochore microtubule (GO:0005828)|membrane (GO:0016020)|nucleus (GO:0005634)|spindle pole (GO:0000922)	centromeric DNA binding (GO:0019237)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)	18		all_cancers(61;3.84e-16)|all_epithelial(67;1e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000237)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0421)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;2.94e-06)|Epithelial(105;0.000103)|all cancers(92;0.000786)		TGTACTTCTTGCTAATCATAT	0.393																																						ENST00000200135.3																			0				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)	18						c.(127-129)agC>agG		zw10 kinetochore protein							132	127	129					11																	113639666		2201	4296	6497	SO:0001583	missense	9183				cell division|ER to Golgi vesicle-mediated transport|establishment of mitotic spindle orientation|meiosis|mitotic cell cycle checkpoint|mitotic metaphase plate congression|mitotic prometaphase|protein complex assembly|protein localization to kinetochore|protein transport|regulation of exit from mitosis	condensed chromosome kinetochore|cytosol|endoplasmic reticulum membrane|kinetochore microtubule|nucleus|spindle pole	centromeric DNA binding|protein binding	g.chr11:113639666G>C	U54996	CCDS8363.1	11q23	2013-01-17	2012-12-13		ENSG00000086827	ENSG00000086827			13194	protein-coding gene	gene with protein product		603954	"ZW10 (Drosophila) homolog, centromere/kinetochore protein", "ZW10, kinetochore associated, homolog (Drosophila)"			9298984	Standard	NM_004724		Approved	KNTC1AP	uc001poe.3	O43264	OTTHUMG00000168190	ENST00000200135.3:c.129C>G	11.37:g.113639666G>C	ENSP00000200135:p.Ser43Arg						p.S43R	NM_004724.3	NP_004715.1	O43264	ZW10_HUMAN		BRCA - Breast invasive adenocarcinoma(274;2.94e-06)|Epithelial(105;0.000103)|all cancers(92;0.000786)	2	273	-		all_cancers(61;3.84e-16)|all_epithelial(67;1e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000237)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0421)|Medulloblastoma(222;0.0425)	43			Interaction with RINT1.|Interaction with ZWINT.		A1A528	Missense_Mutation	SNP	ENST00000200135.3	37	c.129C>G	CCDS8363.1	.	.	.	.	.	.	.	.	.	.	G	13.05	2.120782	0.37436	.	.	ENSG00000086827	ENST00000200135	T	0.44482	0.92	4.98	2.98	0.34508	.	0.095704	0.64402	D	0.000001	T	0.27278	0.0669	L	0.36672	1.1	0.35554	D	0.804147	B	0.16802	0.019	B	0.21151	0.033	T	0.17806	-1.0357	10	0.09084	T	0.74	-11.7974	8.3588	0.32346	0.2616:0.0:0.7384:0.0	.	43	O43264	ZW10_HUMAN	R	43	ENSP00000200135:S43R	ENSP00000200135:S43R	S	-	3	2	ZW10	113144876	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	2.132000	0.42083	1.346000	0.45694	-0.244000	0.11960	AGC		0.393	ZW10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398700.1	NM_004724		35	59	0	0	0	1	0	35	59					C	113639666	G	C	113639666	3	2	276	1	0	0	0	0	1	0	0	0	18244	1310	46	5	2270	5	ZW10	11	113639666	Missense_Mutation	SNP	G	TCGA-J4-A83I-01A-11D-A364-08	58233829	113639666	21366850	24	12766											
NINJ2	4815	broad.mit.edu	37	chr12	772599	772599	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggctcctccaggctccgcCgtctgagtctctgctgcttt	2	13	11	15	2	2	1	0	1	2	0	6	1	5	1	4	2	2	4	4	2	0	1			TCGA-J4-A83I-01A-11D-A364-08	TCGA-J4-A83I-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdeb9e4e-d715-4565-9cb4-40525a0575ad	13d07794-c0fa-4070-9dcd-9cee45840284	g.chr12:772599C>T	ENST00000305108.4	-	1	346	c.66G>A	c.(64-66)acG>acA	p.T22T	RP11-218M22.1_ENST00000543884.1_RNA	NM_016533.4	NP_057617.2	Q9NZG7	NINJ2_HUMAN	ninjurin 2	0					nervous system development (GO:0007399)|neuron cell-cell adhesion (GO:0007158)|tissue regeneration (GO:0042246)	integral component of plasma membrane (GO:0005887)				large_intestine(3)|lung(1)|ovary(2)	6	all_cancers(10;0.0101)|all_epithelial(11;0.0174)|Ovarian(42;0.0512)|all_lung(10;0.103)|Lung NSC(10;0.185)		OV - Ovarian serous cystadenocarcinoma(31;3.26e-05)|BRCA - Breast invasive adenocarcinoma(9;0.0508)			CAGGCTCCGCCGTCTGAGTCT	0.612																																						ENST00000305108.4																			0				large_intestine(3)|lung(1)|ovary(2)	6						c.(64-66)acG>acA		ninjurin 2							88	94	92					12																	772599		2203	4300	6503	SO:0001819	synonymous_variant	4815				nervous system development|neuron cell-cell adhesion|tissue regeneration	integral to plasma membrane		g.chr12:772599C>T	AF205633	CCDS8505.1, CCDS73418.1	12p13	2008-08-05			ENSG00000171840	ENSG00000171840			7825	protein-coding gene	gene with protein product		607297				10627596	Standard	XM_005253689		Approved		uc001qil.3	Q9NZG7	OTTHUMG00000090311	ENST00000305108.4:c.66G>A	12.37:g.772599C>T						RP11-218M22.1_ENST00000543884.1_RNA	p.T22T	NM_016533.4	NP_057617.2	Q9NZG7	NINJ2_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;3.26e-05)|BRCA - Breast invasive adenocarcinoma(9;0.0508)		1	346	-	all_cancers(10;0.0101)|all_epithelial(11;0.0174)|Ovarian(42;0.0512)|all_lung(10;0.103)|Lung NSC(10;0.185)		0						Silent	SNP	ENST00000305108.4	37	c.66G>A	CCDS8505.1																																																																																				0.612	NINJ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206673.2	NM_016533		4	92	0	0	0	1	0	4	92					T	772599	C	T	772599	2	4	276	1	0	0	0	0	0	0	0	1	10419	639	23	2		2	NINJ2	12	772599	Silent	SNP	C	TCGA-J4-A83I-01A-11D-A364-08		772599	133079296	25	12767											
KIF5A	3798	broad.mit.edu	37	chr12	57957899	57957899	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttcactcgccagggaaagctGcacgaccctcagctgatggg	9	7	12	13	2	2	1	2	1	0	0	3	3	2	2	2	2	3	3	2	2	1	1			TCGA-J4-A83I-01A-11D-A364-08	TCGA-J4-A83I-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdeb9e4e-d715-4565-9cb4-40525a0575ad	13d07794-c0fa-4070-9dcd-9cee45840284	g.chr12:57957899G>A	ENST00000455537.2	+	4	574	c.300G>A	c.(298-300)ctG>ctA	p.L100L	KIF5A_ENST00000286452.5_Intron	NM_004984.2	NP_004975.2	Q12840	KIF5A_HUMAN	kinesin family member 5A	100	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell death (GO:0008219)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|protein localization (GO:0008104)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|motor activity (GO:0003774)|plus-end-directed microtubule motor activity (GO:0008574)			breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(32)|ovary(2)|prostate(2)|skin(2)	62						AGGGAAAGCTGCACGACCCTC	0.498																																						ENST00000455537.2																			0				breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(32)|ovary(2)|prostate(2)|skin(2)	62						c.(298-300)ctG>ctA		kinesin family member 5A							85	71	76					12																	57957899		2203	4300	6503	SO:0001819	synonymous_variant	3798				blood coagulation|cell death|microtubule-based movement|synaptic transmission	cytosol|kinesin complex|membrane fraction|microtubule|perinuclear region of cytoplasm	ATP binding|microtubule motor activity	g.chr12:57957899G>A	U06698	CCDS8945.1	12q13.13	2011-07-15	2004-02-13			ENSG00000155980		"Kinesins"	6323	protein-coding gene	gene with protein product		602821	"spastic paraplegia 10 (autosomal dominant)"	SPG10		9858832, 10441583, 16489470	Standard	NM_004984		Approved	D12S1889, NKHC, MY050	uc001sor.1	Q12840	OTTHUMG00000170143	ENST00000455537.2:c.300G>A	12.37:g.57957899G>A						KIF5A_ENST00000286452.5_Intron	p.L100L	NM_004984.2	NP_004975.2	Q12840	KIF5A_HUMAN			4	574	+			100			Kinesin-motor.		A6H8M5|Q4LE26	Silent	SNP	ENST00000455537.2	37	c.300G>A	CCDS8945.1																																																																																				0.498	KIF5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407634.1	NM_004984		18	31	0	0	0	1	0	18	31					A	57957899	G	A	57957899	2	1	276	1	0	0	0	0	0	0	0	1	8305	1306	46	3		3	KIF5A	12	57957899	Silent	SNP	G	TCGA-J4-A83I-01A-11D-A364-08	57185300	57957899	75893996	26	12768											
FAM71C	196472	broad.mit.edu	37	chr12	100042107	100042107	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtttgagagcgactttatccAgatcagcaaaagaggagaag	15	8	12	6	1	1	4	1	1	0	4	2	7	2	4	1	1	2	2	1	1	4	3			TCGA-J4-A83I-01A-11D-A364-08	TCGA-J4-A83I-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdeb9e4e-d715-4565-9cb4-40525a0575ad	13d07794-c0fa-4070-9dcd-9cee45840284	g.chr12:100042107A>G	ENST00000324341.1	+	1	577	c.155A>G	c.(154-156)cAg>cGg	p.Q52R	ANKS1B_ENST00000547776.2_Intron|ANKS1B_ENST00000329257.7_Intron|ANKS1B_ENST00000547010.1_Intron	NM_153364.3	NP_699195.1	Q8NEG0	FA71C_HUMAN	family with sequence similarity 71, member C	52										breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1)	18				OV - Ovarian serous cystadenocarcinoma(2;0.00733)|Epithelial(2;0.0385)|all cancers(2;0.19)		GACTTTATCCAGATCAGCAAA	0.507																																						ENST00000324341.1																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						c.(154-156)cAg>cGg		family with sequence similarity 71, member C							148	132	137					12																	100042107		2203	4300	6503	SO:0001583	missense	196472							g.chr12:100042107A>G		CCDS9072.1	12q23.1	2006-02-03				ENSG00000180219			28594	protein-coding gene	gene with protein product						12477932	Standard	NM_153364		Approved	MGC39520	uc001tgn.3	Q8NEG0		ENST00000324341.1:c.155A>G	12.37:g.100042107A>G	ENSP00000315247:p.Gln52Arg					ANKS1B_ENST00000547776.2_Intron|ANKS1B_ENST00000329257.7_Intron|ANKS1B_ENST00000547010.1_Intron	p.Q52R	NM_153364.3	NP_699195.1	Q8NEG0	FA71C_HUMAN		OV - Ovarian serous cystadenocarcinoma(2;0.00733)|Epithelial(2;0.0385)|all cancers(2;0.19)	1	577	+			52					B2R6Y6	Missense_Mutation	SNP	ENST00000324341.1	37	c.155A>G	CCDS9072.1	.	.	.	.	.	.	.	.	.	.	A	13.74	2.325887	0.41197	.	.	ENSG00000180219	ENST00000324341	T	0.25579	1.79	3.75	2.55	0.30701	.	0.121217	0.37095	N	0.002243	T	0.43478	0.1249	M	0.72894	2.215	0.21527	N	0.999659	D	0.89917	1.0	D	0.91635	0.999	T	0.13361	-1.0512	9	.	.	.	-8.3223	6.2063	0.20604	0.7763:0.0:0.0:0.2237	.	52	Q8NEG0	FA71C_HUMAN	R	52	ENSP00000315247:Q52R	.	Q	+	2	0	FAM71C	98566238	1.000000	0.71417	0.960000	0.40013	0.263000	0.26337	2.013000	0.40942	0.734000	0.32515	0.454000	0.30748	CAG		0.507	FAM71C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408458.1	NM_153364		31	64	0	0	0	1	0	31	64					G	100042107	A	G	100042107	3	3	276	1	0	0	0	0	1	0	0	0	5609	188	7	4	157	4	FAM71C	12	100042107	Missense_Mutation	SNP	A	TCGA-J4-A83I-01A-11D-A364-08	42084208	100042107	33809788	27	12769											
SRRM4	84530	broad.mit.edu	37	chr12	119592130	119592130	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ggagacgtcggtcctactcgCctatgagaaagcgccggaga	10	6	14	11	5	0	3	0	1	0	3	3	6	1	3	3	3	2	0	3	3	3	2			TCGA-J4-A83I-01A-11D-A364-08	TCGA-J4-A83I-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdeb9e4e-d715-4565-9cb4-40525a0575ad	13d07794-c0fa-4070-9dcd-9cee45840284	g.chr12:119592130C>A	ENST00000267260.4	+	12	1862	c.1474C>A	c.(1474-1476)Cct>Act	p.P492T		NM_194286.3	NP_919262.2	A7MD48	SRRM4_HUMAN	serine/arginine repetitive matrix 4	492	Arg-rich.|Ser-rich.				cell differentiation (GO:0030154)|mRNA processing (GO:0006397)|nervous system development (GO:0007399)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)|sensory perception of sound (GO:0007605)	nucleus (GO:0005634)	mRNA binding (GO:0003729)			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	24						GTCCTACTCGCCTATGAGAAA	0.672																																						ENST00000267260.4																			0				breast(2)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	24						c.(1474-1476)Cct>Act		serine/arginine repetitive matrix 4							17	21	20					12																	119592130		1855	4093	5948	SO:0001583	missense	84530				cell differentiation|mRNA processing|nervous system development|regulation of RNA splicing|RNA splicing	nucleus	mRNA binding	g.chr12:119592130C>A	AB058756	CCDS44994.1	12q24.23	2009-09-22	2009-09-21	2009-09-21	ENSG00000139767	ENSG00000139767			29389	protein-coding gene	gene with protein product	"neural-specific SR-related protein of 100 kDa"	613103	"KIAA1853"	KIAA1853		19737518	Standard	NM_194286		Approved	nSR100	uc001txa.2	A7MD48	OTTHUMG00000168928	ENST00000267260.4:c.1474C>A	12.37:g.119592130C>A	ENSP00000267260:p.Pro492Thr						p.P492T	NM_194286.3	NP_919262.2	A7MD48	SRRM4_HUMAN			12	1862	+			492			Arg-rich.|Ser-rich.		A8K5P6|B2RZH7|Q7Z5F0|Q96JH4	Missense_Mutation	SNP	ENST00000267260.4	37	c.1474C>A	CCDS44994.1	.	.	.	.	.	.	.	.	.	.	C	35	5.567514	0.96540	.	.	ENSG00000139767	ENST00000267260	T	0.61980	0.06	5.44	5.44	0.79542	.	0.000000	0.85682	D	0.000000	T	0.77130	0.4085	L	0.59436	1.845	0.58432	D	0.999995	D	0.89917	1.0	D	0.91635	0.999	T	0.75193	-0.3404	9	.	.	.	-30.1907	19.2685	0.93998	0.0:1.0:0.0:0.0	.	492	A7MD48	SRRM4_HUMAN	T	492	ENSP00000267260:P492T	.	P	+	1	0	SRRM4	118076513	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.300000	0.78841	2.562000	0.86427	0.655000	0.94253	CCT		0.672	SRRM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401640.2	NM_194286		6	16	1	0	1	1	1	6	16					A	119592130	C	A	119592130	3	1	276	1	0	0	0	0	1	0	0	0	15170	739	26	5	1520	5	SRRM4	12	119592130	Missense_Mutation	SNP	C	TCGA-J4-A83I-01A-11D-A364-08	19550023	119592130	14259765	28	12770											
HSPB8	26353	broad.mit.edu	37	chr12	119624850	119624850	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcaaacatgaagagaaacagCaagaaggtggcattgtttct	16	8	11	6	0	1	3	0	1	1	2	1	4	1	3	0	2	3	4	0	2	5	2	rs372596104		TCGA-J4-A83I-01A-11D-A364-08	TCGA-J4-A83I-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdeb9e4e-d715-4565-9cb4-40525a0575ad	13d07794-c0fa-4070-9dcd-9cee45840284	g.chr12:119624850C>A	ENST00000281938.2	+	2	1059	c.388C>A	c.(388-390)Caa>Aaa	p.Q130K	HSPB8_ENST00000542496.1_3'UTR	NM_014365.2	NP_055180.1	Q9UJY1	HSPB8_HUMAN	heat shock 22kDa protein 8	130					cell death (GO:0008219)|response to stress (GO:0006950)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634)	identical protein binding (GO:0042802)			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(9)|skin(1)	14	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					AGAGAAACAGCAAGAAGGTGG	0.493																																						ENST00000281938.2																			0				central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(9)|skin(1)	14						c.(388-390)Caa>Aaa		heat shock 22kDa protein 8							106	100	102					12																	119624850		2203	4300	6503	SO:0001583	missense	26353				cell death|response to heat	cytoplasm|nucleus	identical protein binding|protein serine/threonine kinase activity	g.chr12:119624850C>A	AF191017	CCDS9189.1	12q24.23	2014-09-17	2004-04-23					"Heat shock proteins / HSPB"	30171	protein-coding gene	gene with protein product		608014	"heat shock 27kDa protein 8"			10833516, 11085516	Standard	NM_014365		Approved	H11, E2IG1, HSP22, HspB8	uc001txb.3	Q9UJY1		ENST00000281938.2:c.388C>A	12.37:g.119624850C>A	ENSP00000281938:p.Gln130Lys					HSPB8_ENST00000542496.1_3'UTR	p.Q130K	NM_014365.2	NP_055180.1	Q9UJY1	HSPB8_HUMAN			2	1059	+	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		130					B2R6A6|Q6FIH3|Q9UKS3	Missense_Mutation	SNP	ENST00000281938.2	37	c.388C>A	CCDS9189.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.48|16.48	3.136017|3.136017	0.56936|0.56936	.|.	.|.	ENSG00000152137|ENSG00000152137	ENST00000281938|ENST00000541798	D|.	0.91792|.	-2.91|.	5.7|5.7	5.7|5.7	0.88788|0.88788	Heat shock protein Hsp20 (2);HSP20-like chaperone (1);|.	0.548518|.	0.19532|.	N|.	0.112004|.	T|T	0.42245|0.42245	0.1194|0.1194	N|N	0.13168|0.13168	0.305|0.305	0.38149|0.38149	D|D	0.938676|0.938676	B|.	0.06786|.	0.001|.	B|.	0.14578|.	0.011|.	T|T	0.40646|0.40646	-0.9552|-0.9552	9|5	.|.	.|.	.|.	.|.	13.6747|13.6747	0.62447|0.62447	0.0:0.7997:0.2003:0.0|0.0:0.7997:0.2003:0.0	.|.	130|.	Q9UJY1|.	HSPB8_HUMAN|.	K|R	130|37	ENSP00000281938:Q130K|.	.|.	Q|S	+|+	1|3	0|2	HSPB8|HSPB8	118109233|118109233	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.995000|0.995000	0.86356|0.86356	6.223000|6.223000	0.72257|0.72257	2.683000|2.683000	0.91414|0.91414	0.655000|0.655000	0.94253|0.94253	CAA|AGC		0.493	HSPB8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401647.1	NM_014365		4	50	1	0	0.00024832	1	0.000267422	4	50					A	119624850	C	A	119624850	3	1	276	1	0	0	0	0	1	0	0	0	7423	711	25	5	394	5	HSPB8	12	119624850	Missense_Mutation	SNP	C	TCGA-J4-A83I-01A-11D-A364-08	32720	119624850	14227045	29	12771											
TMEM132D	121256	broad.mit.edu	37	chr12	130184522	130184522	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgataaaggaagatgctcccGatcctctgcaaggggggccc	10	7	13	11	1	1	2	0	1	1	1	3	4	3	3	3	4	2	2	3	4	4	1			TCGA-J4-A83I-01A-11D-A364-08	TCGA-J4-A83I-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdeb9e4e-d715-4565-9cb4-40525a0575ad	13d07794-c0fa-4070-9dcd-9cee45840284	g.chr12:130184522G>A	ENST00000422113.2	-	2	1127	c.801C>T	c.(799-801)atC>atT	p.I267I	RP11-174M13.2_ENST00000544036.1_lincRNA	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	267					negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)		p.I267I(1)		NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		AGATGCTCCCGATCCTCTGCA	0.572																																						ENST00000422113.2																			1	Substitution - coding silent(1)	p.I267I(1)	ovary(1)	NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152						c.(799-801)atC>atT		transmembrane protein 132D							92	82	86					12																	130184522		2203	4300	6503	SO:0001819	synonymous_variant	121256					integral to membrane		g.chr12:130184522G>A	AB061814	CCDS9266.1	12q24.32-q24.33	2014-06-13			ENSG00000151952	ENSG00000151952			29411	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 153"	611257				11853319, 12966072	Standard	NM_133448		Approved	KIAA1944, MOLT, PPP1R153	uc009zyl.1	Q14C87	OTTHUMG00000168400	ENST00000422113.2:c.801C>T	12.37:g.130184522G>A							p.I267I	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)	2	1127	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)	267					Q14C96|Q76M59|Q8N1W9|Q8N3Q5|Q8TF57	Silent	SNP	ENST00000422113.2	37	c.801C>T	CCDS9266.1																																																																																				0.572	TMEM132D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399592.1	NM_133448		13	38	0	0	0	1	0	13	38					A	130184522	G	A	130184522	2	1	276	1	0	0	0	0	0	0	0	1	16044	1048	37	2		2	TMEM132D	12	130184522	Silent	SNP	G	TCGA-J4-A83I-01A-11D-A364-08	10559672	130184522	3667373	30	12772											
MMP17	4326	broad.mit.edu	37	chr12	132322841	132322841	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gccatcacagccatgcagcaGtttggtggcctggaggccac	8	7	13	13	0	1	0	1	0	0	0	1	1	1	1	4	4	3	3	4	4	0	1			TCGA-J4-A83I-01A-11D-A364-08	TCGA-J4-A83I-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdeb9e4e-d715-4565-9cb4-40525a0575ad	13d07794-c0fa-4070-9dcd-9cee45840284	g.chr12:132322841G>A	ENST00000360564.1	+	2	363	c.261G>A	c.(259-261)caG>caA	p.Q87Q	MMP17_ENST00000535291.1_Silent_p.Q3Q	NM_016155.4	NP_057239.4	Q9ULZ9	MMP17_HUMAN	matrix metallopeptidase 17 (membrane-inserted)	87					positive regulation of catalytic activity (GO:0043085)	anchored component of membrane (GO:0031225)|integral component of plasma membrane (GO:0005887)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|enzyme activator activity (GO:0008047)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(3)|lung(1)	5	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.82e-07)|Epithelial(86;1.51e-06)|all cancers(50;2.35e-05)	Marimastat(DB00786)	CCATGCAGCAGTTTGGTGGCC	0.677																																						ENST00000360564.1																			0				endometrium(1)|large_intestine(3)|lung(1)	5						c.(259-261)caG>caA		matrix metallopeptidase 17 (membrane-inserted)							26	28	28					12																	132322841		2203	4300	6503	SO:0001819	synonymous_variant	4326				proteolysis	anchored to membrane|integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding	g.chr12:132322841G>A	X89576	CCDS31927.1	12q24.3	2005-08-08	2005-08-08		ENSG00000198598	ENSG00000198598			7163	protein-coding gene	gene with protein product		602285	"matrix metalloproteinase 17 (membrane-inserted)"			9878265	Standard	NM_016155		Approved	MT4-MMP	uc001ujc.1	Q9ULZ9	OTTHUMG00000168050	ENST00000360564.1:c.261G>A	12.37:g.132322841G>A						MMP17_ENST00000535291.1_Silent_p.Q3Q	p.Q87Q	NM_016155.4	NP_057239.4	Q9ULZ9	MMP17_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;1.82e-07)|Epithelial(86;1.51e-06)|all cancers(50;2.35e-05)	2	363	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)		87					Q14850	Silent	SNP	ENST00000360564.1	37	c.261G>A	CCDS31927.1																																																																																				0.677	MMP17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397757.1	NM_016155		8	14	0	0	0	1	0	8	14					A	132322841	G	A	132322841	2	1	276	1	0	0	0	0	0	0	0	1	9656	1020	36	3		3	MMP17	12	132322841	Silent	SNP	G	TCGA-J4-A83I-01A-11D-A364-08	2138319	132322841	1529054	31	12773											
ITGAX	3687	broad.mit.edu	37	chr16	31382406	31382406	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccttctctcctctggccagcGgatcgcgggctcccagctct	3	10	10	18	3	3	0	0	0	3	0	7	1	5	1	4	3	2	2	4	3	0	1			TCGA-J4-A83I-01A-11D-A364-08	TCGA-J4-A83I-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdeb9e4e-d715-4565-9cb4-40525a0575ad	13d07794-c0fa-4070-9dcd-9cee45840284	g.chr16:31382406G>A	ENST00000268296.4	+	15	1833	c.1712G>A	c.(1711-1713)cGg>cAg	p.R571Q	ITGAX_ENST00000562522.1_Splice_Site_p.R571Q	NM_000887.3	NP_000878.2	P20702	ITAX_HUMAN	integrin, alpha X (complement component 3 receptor 4 subunit)	571					blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|organ morphogenesis (GO:0009887)	cell surface (GO:0009986)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|receptor activity (GO:0004872)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	77						TCTGGCCAGCGGATCGCGGGC	0.562																																						ENST00000268296.4																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	77						c.e15-1		integrin, alpha X (complement component 3 receptor 4 subunit)							79	88	85					16																	31382406		2197	4300	6497	SO:0001630	splice_region_variant	3687				blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis	integrin complex	protein binding|receptor activity	g.chr16:31382406G>A	BC038237	CCDS10711.1, CCDS67014.1	16p11.2	2010-03-23	2006-02-10		ENSG00000140678	ENSG00000140678		"CD molecules", "Complement system", "Integrins"	6152	protein-coding gene	gene with protein product		151510	"integrin, alpha X (antigen CD11C (p150), alpha polypeptide)"	CD11C		3284962, 2303426	Standard	NM_001286375		Approved	CD11c	uc002ebu.1	P20702	OTTHUMG00000132465	ENST00000268296.4:c.1711-1G>A	16.37:g.31382406G>A						ITGAX_ENST00000562522.1_Splice_Site_p.R571_splice	p.R571_splice	NM_000887.3	NP_000878.2	P20702	ITAX_HUMAN			15	1833	+			571					Q8IVA6	Splice_Site	SNP	ENST00000268296.4	37	c.1710_splice	CCDS10711.1	.	.	.	.	.	.	.	.	.	.	G	27.5	4.840575	0.91197	.	.	ENSG00000140678	ENST00000268296	T	0.64260	-0.09	5.24	5.24	0.73138	.	.	.	.	.	T	0.80859	0.4704	M	0.91717	3.235	0.80722	D	1	D	0.89917	1.0	P	0.58780	0.845	D	0.85576	0.1237	9	0.87932	D	0	.	16.1017	0.81175	0.0:0.0:1.0:0.0	.	571	P20702	ITAX_HUMAN	Q	571	ENSP00000268296:R571Q	ENSP00000268296:R571Q	R	+	2	0	ITGAX	31289907	1.000000	0.71417	0.147000	0.22382	0.030000	0.12068	5.351000	0.66022	2.577000	0.86979	0.655000	0.94253	CGG		0.562	ITGAX-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000255628.2	NM_000887	Missense_Mutation	4	117	0	0	0	1	0	4	117					A	31382406	G	A	31382406	5	1	276	1	0	0	0	0	0	0	1	0	7889	1130	39	2	1770	2	ITGAX	16	31382406	Splice_Site	SNP	G	TCGA-J4-A83I-01A-11D-A364-08		31382406	58972347	32	12774											
RABEP1	9135	broad.mit.edu	37	chr17	5264971	5264971	+	Splice_Site	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggaatctcttgcagaaagagGtgagttacctttctcacgtt	10	13	10	8	1	2	3	1	1	2	2	4	4	2	4	1	2	2	3	1	2	3	4			TCGA-J4-A83I-01A-11D-A364-08	TCGA-J4-A83I-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdeb9e4e-d715-4565-9cb4-40525a0575ad	13d07794-c0fa-4070-9dcd-9cee45840284	g.chr17:5264971G>C	ENST00000546142.2	+	9	1750		c.e9+1		RP11-420A6.2_ENST00000572792.1_RNA|RABEP1_ENST00000408982.2_Splice_Site|RABEP1_ENST00000537505.1_Splice_Site|NUP88_ENST00000573169.1_5'UTR|RABEP1_ENST00000262477.6_Splice_Site|RABEP1_ENST00000341923.6_Splice_Site			Q15276	RABE1_HUMAN	rabaptin, RAB GTPase binding effector protein 1						apoptotic process (GO:0006915)|endocytosis (GO:0006897)|membrane fusion (GO:0061025)|protein transport (GO:0015031)	early endosome (GO:0005769)|endocytic vesicle (GO:0030139)|endosome (GO:0005768)|intracellular membrane-bounded organelle (GO:0043231)	GTPase activator activity (GO:0005096)|protein homodimerization activity (GO:0042803)			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	8						GCAGAAAGAGGTGAGTTACCT	0.498																																						ENST00000262477.6																			0				NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	8						c.e9+1		rabaptin, RAB GTPase binding effector protein 1							70	72	71					17																	5264971		2053	4197	6250	SO:0001630	splice_region_variant	9135				apoptosis|cellular membrane fusion|endocytosis|protein transport	centrosome|early endosome|endocytic vesicle|recycling endosome	growth factor activity|GTPase activator activity|protein homodimerization activity	g.chr17:5264971G>C	AF098638	CCDS42243.1, CCDS45592.1	17p13.2	2008-02-05				ENSG00000029725			17677	protein-coding gene	gene with protein product		603616				8521472	Standard	NM_001291582		Approved	neurocrescin, RAB5EP, RABPT5, rabaptin-5	uc002gbm.4	Q15276		ENST00000546142.2:c.1563+1G>C	17.37:g.5264971G>C						NUP88_ENST00000573169.1_5'UTR|RABEP1_ENST00000546142.2_Splice_Site|RABEP1_ENST00000537505.1_Splice_Site|RABEP1_ENST00000408982.2_Splice_Site|RABEP1_ENST00000341923.6_Splice_Site		NM_004703.4	NP_004694.2	Q15276	RABE1_HUMAN			9	1787	+								B2RAG7|O95369|Q8IVX3	Splice_Site	SNP	ENST00000546142.2	37		CCDS45592.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.227413	0.79576	.	.	ENSG00000029725	ENST00000262477;ENST00000408982;ENST00000539669;ENST00000546142;ENST00000341923;ENST00000537505	.	.	.	5.54	5.54	0.83059	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.8588	0.92264	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	RABEP1	5205695	1.000000	0.71417	1.000000	0.80357	0.934000	0.57294	9.696000	0.98695	2.779000	0.95612	0.655000	0.94253	.		0.498	RABEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439349.1	NM_004703	Intron	6	9	0	0	0	1	0	6	9					C	5264971	G	C	5264971	5	2	276	1	0	0	0	0	0	0	1	0	12961	1275	44	5	1598	5	RABEP1	17	5264971	Splice_Site	SNP	G	TCGA-J4-A83I-01A-11D-A364-08		5264971	75930239	33	12775											
CYP4F3	4051	broad.mit.edu	37	chr19	15763396	15763396	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caggatgaagatgggaagaaGttgtccgatgaggacataag	15	7	15	4	1	0	4	0	2	0	2	1	8	1	7	1	3	0	1	1	3	4	2			TCGA-J4-A83I-01A-11D-A364-08	TCGA-J4-A83I-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdeb9e4e-d715-4565-9cb4-40525a0575ad	13d07794-c0fa-4070-9dcd-9cee45840284	g.chr19:15763396G>A	ENST00000221307.8	+	8	983	c.936G>A	c.(934-936)aaG>aaA	p.K312K	CYP4F3_ENST00000585846.1_Silent_p.K312K|CYP4F3_ENST00000591058.1_Silent_p.K312K|CYP4F3_ENST00000586182.2_Silent_p.K312K	NM_000896.2	NP_000887.2	Q08477	CP4F3_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 3	312					arachidonic acid metabolic process (GO:0019369)|icosanoid metabolic process (GO:0006690)|leukotriene metabolic process (GO:0006691)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	alpha-tocopherol omega-hydroxylase activity (GO:0052871)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|leukotriene-B4 20-monooxygenase activity (GO:0050051)|monooxygenase activity (GO:0004497)			endometrium(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|stomach(1)	34						ATGGGAAGAAGTTGTCCGATG	0.517																																						ENST00000221307.7																			0				endometrium(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|stomach(1)	34						c.(934-936)aaG>aaA		cytochrome P450, family 4, subfamily F, polypeptide 3							170	162	165					19																	15763396		2203	4300	6503	SO:0001819	synonymous_variant	4051				leukotriene metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding	g.chr19:15763396G>A	AB002454	CCDS12332.1, CCDS59362.1	19p13.12	2013-02-21	2003-01-14		ENSG00000186529	ENSG00000186529		"Cytochrome P450s"	2646	protein-coding gene	gene with protein product		601270	"cytochrome P450, subfamily IVF, polypeptide 3 (leukotriene B4 omega hydroxylase)"	LTB4H		8486631, 9539102	Standard	NM_000896		Approved	CYP4F	uc010xol.2	Q08477	OTTHUMG00000182374	ENST00000221307.8:c.936G>A	19.37:g.15763396G>A						CYP4F3_ENST00000586182.1_Silent_p.K312K|CYP4F3_ENST00000585846.1_Silent_p.K312K|CYP4F3_ENST00000592424.1_3'UTR|CYP4F3_ENST00000591058.1_Silent_p.K312K	p.K312K	NM_000896.2	NP_000887.2	Q08477	CP4F3_HUMAN			8	984	+			312					B7Z8Z3|O60634|Q5U740	Silent	SNP	ENST00000221307.8	37	c.936G>A	CCDS12332.1																																																																																				0.517	CYP4F3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460819.3	NM_000896		5	119	0	0	0	1	0	5	119					A	15763396	G	A	15763396	2	1	276	1	0	0	0	0	0	0	0	1	4190	1020	36	3		3	CYP4F3	19	15763396	Silent	SNP	G	TCGA-J4-A83I-01A-11D-A364-08		15763396	43365587	34	12776											
EPB41L1	2036	broad.mit.edu	37	chr20	34782245	34782245	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	acggtcagaggctgaggaggGagaggtcaggactccaacca	12	4	16	9	1	2	3	2	1	0	2	3	6	3	5	2	6	1	1	2	6	1	0			TCGA-J4-A83I-01A-11D-A364-08	TCGA-J4-A83I-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdeb9e4e-d715-4565-9cb4-40525a0575ad	13d07794-c0fa-4070-9dcd-9cee45840284	g.chr20:34782245G>A	ENST00000338074.2	+	12	1573	c.1412G>A	c.(1411-1413)gGa>gAa	p.G471E	EPB41L1_ENST00000373941.1_Missense_Mutation_p.G471E|EPB41L1_ENST00000441639.1_Missense_Mutation_p.G409E|EPB41L1_ENST00000202028.5_Missense_Mutation_p.G409E|EPB41L1_ENST00000373946.3_Missense_Mutation_p.G440E|EPB41L1_ENST00000373950.2_Missense_Mutation_p.G374E	NM_001258329.1|NM_012156.2	NP_001245258.1|NP_036288.2	Q9H4G0	E41L1_HUMAN	erythrocyte membrane protein band 4.1-like 1	471					cortical actin cytoskeleton organization (GO:0030866)|synaptic transmission (GO:0007268)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extrinsic component of membrane (GO:0019898)|plasma membrane (GO:0005886)	structural molecule activity (GO:0005198)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(10)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	37	Breast(12;0.0239)					GCTGAGGAGGGAGAGGTCAGG	0.607																																						ENST00000338074.2																			0				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(10)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	37						c.(1411-1413)gGa>gAa		erythrocyte membrane protein band 4.1-like 1							79	46	57					20																	34782245		2203	4300	6503	SO:0001583	missense	2036				cortical actin cytoskeleton organization|synaptic transmission	cytoskeleton|cytosol|extrinsic to membrane|plasma membrane	actin binding|structural molecule activity	g.chr20:34782245G>A	AB002336	CCDS13271.1, CCDS13272.1, CCDS58771.1	20q11.2-q12	2003-03-17			ENSG00000088367	ENSG00000088367			3378	protein-coding gene	gene with protein product		602879				9570967, 9828140	Standard	NM_012156		Approved	KIAA0338	uc002xfb.3	Q9H4G0	OTTHUMG00000032378	ENST00000338074.2:c.1412G>A	20.37:g.34782245G>A	ENSP00000337168:p.Gly471Glu					EPB41L1_ENST00000373941.1_Missense_Mutation_p.G471E|EPB41L1_ENST00000373950.2_Missense_Mutation_p.G374E|EPB41L1_ENST00000441639.1_Missense_Mutation_p.G409E|EPB41L1_ENST00000373946.3_Missense_Mutation_p.G440E|EPB41L1_ENST00000202028.5_Missense_Mutation_p.G409E	p.G471E	NM_001258329.1|NM_012156.2	NP_001245258.1|NP_036288.2	Q9H4G0	E41L1_HUMAN			12	1573	+	Breast(12;0.0239)		471					O15046|Q4VXM6|Q4VXM7|Q4VXM8|Q4VXN4|Q6ZT61|Q8IUU7|Q96CV5|Q96L65	Missense_Mutation	SNP	ENST00000338074.2	37	c.1412G>A	CCDS13271.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	3.677|3.677	-0.066239|-0.066239	0.07273|0.07273	.|.	.|.	ENSG00000088367|ENSG00000088367	ENST00000451082|ENST00000202028;ENST00000373950;ENST00000397315;ENST00000373951;ENST00000441639;ENST00000373946;ENST00000344237;ENST00000338074;ENST00000373941	.|D;D;D;D;D;D	.|0.82893	.|-1.56;-1.54;-1.56;-1.61;-1.66;-1.66	5.34|5.34	4.39|4.39	0.52855|0.52855	.|.	.|1.567920	.|0.03274	.|N	.|0.185200	T|T	0.63546|0.63546	0.2520|0.2520	N|N	0.04508|0.04508	-0.205|-0.205	0.28687|0.28687	N|N	0.904777|0.904777	.|B;B;B;B;B;B	.|0.09022	.|0.002;0.0;0.002;0.0;0.001;0.0	.|B;B;B;B;B;B	.|0.11329	.|0.004;0.001;0.006;0.001;0.003;0.002	T|T	0.62709|0.62709	-0.6797|-0.6797	5|10	.|0.02654	.|T	.|1	.|.	5.7266|5.7266	0.18017|0.18017	0.2517:0.0:0.7483:0.0|0.2517:0.0:0.7483:0.0	.|.	.|471;471;440;374;374;409	.|B7Z653;Q9H4G0;Q9H4G0-4;Q9H4G0-3;B3KUB6;Q9H4G0-2	.|.;E41L1_HUMAN;.;.;.;.	K|E	49|409;374;471;374;409;440;45;471;471	.|ENSP00000202028:G409E;ENSP00000363061:G374E;ENSP00000399214:G409E;ENSP00000363057:G440E;ENSP00000337168:G471E;ENSP00000363052:G471E	.|ENSP00000202028:G409E	E|G	+|+	1|2	0|0	EPB41L1|EPB41L1	34245659|34245659	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.718000|0.718000	0.41266|0.41266	4.189000|4.189000	0.58358|0.58358	2.502000|2.502000	0.84385|0.84385	0.655000|0.655000	0.94253|0.94253	GAG|GGA		0.607	EPB41L1-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078978.3	NM_012156		4	11	0	0	0	1	0	4	11					A	34782245	G	A	34782245	3	1	276	1	0	0	0	0	1	0	0	0	5152	1174	41	3	1454	3	EPB41L1	20	34782245	Missense_Mutation	SNP	G	TCGA-J4-A83I-01A-11D-A364-08		34782245	28243275	35	12777											
SLC12A5	57468	broad.mit.edu	37	chr20	44671824	44671824	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctcctacctgaccaagggcGtgattgtggagaggagtggg	8	8	17	8	1	0	3	0	2	0	1	1	5	1	4	3	4	1	1	3	4	2	2			TCGA-J4-A83I-01A-11D-A364-08	TCGA-J4-A83I-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdeb9e4e-d715-4565-9cb4-40525a0575ad	13d07794-c0fa-4070-9dcd-9cee45840284	g.chr20:44671824G>A	ENST00000454036.2	+	9	1217	c.1168G>A	c.(1168-1170)Gtg>Atg	p.V390M	SLC12A5_ENST00000243964.3_Missense_Mutation_p.V367M	NM_001134771.1	NP_001128243.1	Q9H2X9	S12A5_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 5	390					cellular ion homeostasis (GO:0006873)|chloride transmembrane transport (GO:1902476)|ion transport (GO:0006811)|learning (GO:0007612)|multicellular organism growth (GO:0035264)|potassium ion transport (GO:0006813)|response to drug (GO:0042493)|synaptic transmission (GO:0007268)|thermosensory behavior (GO:0040040)|transmembrane transport (GO:0055085)|transport (GO:0006810)	dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	GACCAAGGGCGTGATTGTGGA	0.582																																						ENST00000454036.1																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80						c.(1168-1170)Gtg>Atg		solute carrier family 12 (potassium/chloride transporter), member 5	Bumetanide(DB00887)|Potassium Chloride(DB00761)						207	183	191					20																	44671824		2203	4300	6503	SO:0001583	missense	57468				potassium ion transport|sodium ion transport	integral to membrane	potassium:chloride symporter activity	g.chr20:44671824G>A	AB033002	CCDS13391.1, CCDS46610.1	20q13.12	2013-05-22	2010-04-20		ENSG00000124140	ENSG00000124140		"Solute carriers"	13818	protein-coding gene	gene with protein product		606726					Standard	NM_020708		Approved	KIAA1176, KCC2	uc010zxl.1	Q9H2X9	OTTHUMG00000032638	ENST00000454036.2:c.1168G>A	20.37:g.44671824G>A	ENSP00000387694:p.Val390Met					SLC12A5_ENST00000539566.1_Intron|SLC12A5_ENST00000243964.3_Missense_Mutation_p.V367M	p.V390M	NM_001134771.1	NP_001128243.1	Q9H2X9	S12A5_HUMAN			9	1244	+		Myeloproliferative disorder(115;0.0122)	390					A2RTX2|Q5VZ41|Q9H4Z0|Q9ULP4	Missense_Mutation	SNP	ENST00000454036.2	37	c.1168G>A	CCDS46610.1	.	.	.	.	.	.	.	.	.	.	G	15.94	2.979908	0.53827	.	.	ENSG00000124140	ENST00000454036;ENST00000243964	T;T	0.59224	0.28;0.28	4.47	4.47	0.54385	.	0.285196	0.31257	N	0.007964	T	0.41903	0.1179	N	0.24115	0.695	0.80722	D	1	B;B	0.19817	0.023;0.039	B;B	0.14023	0.007;0.01	T	0.39961	-0.9588	10	0.62326	D	0.03	.	10.2986	0.43639	0.0907:0.0:0.9093:0.0	.	390;367	Q9H2X9;Q9H2X9-2	S12A5_HUMAN;.	M	390;367	ENSP00000387694:V390M;ENSP00000243964:V367M	ENSP00000243964:V367M	V	+	1	0	SLC12A5	44105231	0.967000	0.33354	1.000000	0.80357	0.967000	0.64934	2.554000	0.45845	2.470000	0.83445	0.462000	0.41574	GTG		0.582	SLC12A5-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000471538.1			77	105	0	0	0	1	0	77	105					A	44671824	G	A	44671824	3	1	276	1	0	0	0	0	1	0	0	0	14386	1145	40	1	1258	1	SLC12A5	20	44671824	Missense_Mutation	SNP	G	TCGA-J4-A83I-01A-11D-A364-08	9889579	44671824	18353696	36	12778											
RIMBP3	85376	broad.mit.edu	37	chr22	20457165	20457165	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agtgcctcctgctcctccttCaaaacgttatggaagtcaga	10	11	8	12	1	2	1	2	0	0	1	5	2	5	2	4	1	3	2	4	1	4	2			TCGA-J4-A83I-01A-11D-A364-08	TCGA-J4-A83I-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdeb9e4e-d715-4565-9cb4-40525a0575ad	13d07794-c0fa-4070-9dcd-9cee45840284	g.chr22:20457165C>G	ENST00000426804.1	-	1	4621	c.4137G>C	c.(4135-4137)ttG>ttC	p.L1379F	RN7SKP131_ENST00000363006.1_RNA|SCARNA18_ENST00000516215.1_RNA|SCARNA17_ENST00000516762.1_RNA	NM_015672.1	NP_056487.1	Q9UFD9	RIM3A_HUMAN	RIMS binding protein 3	1379										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	13	Colorectal(54;0.0993)|Melanoma(16;0.165)		LUSC - Lung squamous cell carcinoma(15;0.0405)|Lung(15;0.224)			GCTCCTCCTTCAAAACGTTAT	0.587																																						ENST00000426804.1																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	13						c.(4135-4137)ttG>ttC		RIMS binding protein 3							59	69	66					22																	20457165		1962	4177	6139	SO:0001583	missense	85376							g.chr22:20457165C>G	AB051453	CCDS46665.1	22q11.21	2014-05-06			ENSG00000196622	ENSG00000275793			29344	protein-coding gene	gene with protein product		612699				11258795, 17855024	Standard	NM_015672		Approved	KIAA1666, RIMBP3.1, RIMBP3A	uc002zsd.4	Q9UFD9	OTTHUMG00000188355	ENST00000426804.1:c.4137G>C	22.37:g.20457165C>G	ENSP00000391564:p.Leu1379Phe						p.L1379F	NM_015672.1	NP_056487.1			LUSC - Lung squamous cell carcinoma(15;0.0405)|Lung(15;0.224)		1	4621	-	Colorectal(54;0.0993)|Melanoma(16;0.165)							Q8IYP7|Q9BY94|Q9UFQ5	Missense_Mutation	SNP	ENST00000426804.1	37	c.4137G>C	CCDS46665.1	.	.	.	.	.	.	.	.	.	.	C	7.566	0.665685	0.14710	.	.	ENSG00000196622	ENST00000355186;ENST00000426804	T	0.25085	1.82	3.58	0.0786	0.14413	.	3.215400	0.00979	N	0.003344	T	0.14270	0.0345	N	0.19112	0.55	0.09310	N	1	B	0.09022	0.002	B	0.10450	0.005	T	0.11767	-1.0574	10	0.08179	T	0.78	-0.8074	2.8306	0.05498	0.231:0.5115:0.0:0.2574	.	1285	Q9UFD9	RIM3A_HUMAN	F	1285;1379	ENSP00000391564:L1379F	ENSP00000347318:L1285F	L	-	3	2	RIMBP3	18837165	0.000000	0.05858	0.001000	0.08648	0.174000	0.22865	-0.029000	0.12329	-0.011000	0.14247	0.423000	0.28283	TTG		0.587	RIMBP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318945.2	NM_015672		4	50	0	0	0	1	0	4	50					G	20457165	C	G	20457165	3	3	276	1	0	0	0	0	1	0	0	0	13364	825	29	5	786	5	RIMBP3	22	20457165	Missense_Mutation	SNP	C	TCGA-J4-A83I-01A-11D-A364-08		20457165	30847401	37	12779											
MXRA5	25878	broad.mit.edu	37	chrX	3235405	3235405	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgaggttgcggatgtagagcGtcccgttggggaaaacaaac	11	7	15	8	4	0	1	0	0	0	1	1	4	1	3	1	4	4	3	1	4	4	3			TCGA-J4-A83I-01A-11D-A364-08	TCGA-J4-A83I-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdeb9e4e-d715-4565-9cb4-40525a0575ad	13d07794-c0fa-4070-9dcd-9cee45840284	g.chrX:3235405G>C	ENST00000217939.6	-	6	6471	c.6317C>G	c.(6316-6318)aCg>aGg	p.T2106R		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	2106	Ig-like C2-type 5.					extracellular vesicular exosome (GO:0070062)				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				GATGTAGAGCGTCCCGTTGGG	0.677																																						ENST00000217939.6																			0				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157						c.(6316-6318)aCg>aGg		matrix-remodelling associated 5							43	37	39					X																	3235405		2203	4300	6503	SO:0001583	missense	25878					extracellular region		g.chrX:3235405G>C	AF245505	CCDS14124.1	Xp22.33	2013-01-29			ENSG00000101825	ENSG00000101825		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	7539	protein-coding gene	gene with protein product	"adlican"					12101425	Standard	NM_015419		Approved	DKFZp564I1922	uc004crg.4	Q9NR99	OTTHUMG00000021083	ENST00000217939.6:c.6317C>G	X.37:g.3235405G>C	ENSP00000217939:p.Thr2106Arg						p.T2106R	NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN			6	6471	-		all_lung(23;0.00031)|Lung NSC(23;0.000946)	2106			Ig-like C2-type 5.		Q6P1M7|Q9Y3Y8	Missense_Mutation	SNP	ENST00000217939.6	37	c.6317C>G	CCDS14124.1	.	.	.	.	.	.	.	.	.	.	g	17.42	3.385655	0.61956	.	.	ENSG00000101825	ENST00000381114;ENST00000217939	T	0.69926	-0.44	3.63	3.63	0.41609	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.37906	U	0.001891	T	0.81049	0.4742	M	0.77616	2.38	0.52501	D	0.999955	D	0.89917	1.0	D	0.97110	1.0	T	0.83095	-0.0131	10	0.49607	T	0.09	.	15.1094	0.72343	0.0:0.0:1.0:0.0	.	2106	Q9NR99	MXRA5_HUMAN	R	2106	ENSP00000217939:T2106R	ENSP00000217939:T2106R	T	-	2	0	MXRA5	3245405	1.000000	0.71417	0.963000	0.40424	0.649000	0.38597	8.394000	0.90185	1.440000	0.47531	0.597000	0.82753	ACG		0.677	MXRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055655.2	NM_015419		10	2	0	0	0	1	0	10	2					C	3235405	G	C	3235405	3	2	276	1	0	0	0	0	1	0	0	0	10003	1145	40	5	2177	5	MXRA5	23	3235405	Missense_Mutation	SNP	G	TCGA-J4-A83I-01A-11D-A364-08		3235405	152035155	38	12780											
FANCB	2187	broad.mit.edu	37	chrX	14883152	14883152	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aaagttacctgacacactaaCaactttgccagtttgagaag	15	10	7	9	0	0	2	0	2	0	1	0	3	0	2	2	0	4	2	2	0	5	4			TCGA-J4-A83I-01A-11D-A364-08	TCGA-J4-A83I-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdeb9e4e-d715-4565-9cb4-40525a0575ad	13d07794-c0fa-4070-9dcd-9cee45840284	g.chrX:14883152C>A	ENST00000324138.3	-	2	634	c.481G>T	c.(481-483)Gtt>Ttt	p.V161F	FANCB_ENST00000398334.1_Missense_Mutation_p.V161F	NM_152633.2	NP_689846.1	Q8NB91	FANCB_HUMAN	Fanconi anemia, complementation group B	161					DNA repair (GO:0006281)	Fanconi anaemia nuclear complex (GO:0043240)|nucleoplasm (GO:0005654)				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	24	Hepatocellular(33;0.183)					GACACACTAACAACTTTGCCA	0.393								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																													ENST00000398334.1																			0				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	24						c.(481-483)Gtt>Ttt	Involved in tolerance or repair of DNA crosslinks	Fanconi anemia, complementation group B							76	75	75					X																	14883152		2203	4299	6502	SO:0001583	missense	2187	Fanconi Anemia	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	DNA repair	nucleoplasm		g.chrX:14883152C>A	AK091383	CCDS14161.1	Xp22.2	2014-09-17			ENSG00000181544	ENSG00000181544		"Fanconi anemia, complementation groups"	3583	protein-coding gene	gene with protein product		300515				9382107, 15502827	Standard	NM_152633		Approved	FAB, FLJ34064, FAAP95	uc004cwh.1	Q8NB91	OTTHUMG00000021168	ENST00000324138.3:c.481G>T	X.37:g.14883152C>A	ENSP00000326819:p.Val161Phe					FANCB_ENST00000324138.3_Missense_Mutation_p.V161F	p.V161F	NM_001018113.1	NP_001018123.1	Q8NB91	FANCB_HUMAN			3	748	-	Hepatocellular(33;0.183)		161					B2RMZ4|Q7Z2U2|Q86XG1	Missense_Mutation	SNP	ENST00000324138.3	37	c.481G>T	CCDS14161.1	.	.	.	.	.	.	.	.	.	.	C	8.300	0.819677	0.16607	.	.	ENSG00000181544	ENST00000324138;ENST00000398334;ENST00000452869	T;T;T	0.35789	1.29;1.29;1.29	5.52	-5.98	0.02220	.	1.318640	0.04652	N	0.407292	T	0.29190	0.0726	L	0.34521	1.04	0.09310	N	1	P	0.41188	0.741	B	0.42422	0.387	T	0.45056	-0.9287	10	0.62326	D	0.03	0.0295	8.9105	0.35550	0.1415:0.6417:0.0848:0.132	.	161	Q8NB91	FANCB_HUMAN	F	161	ENSP00000326819:V161F;ENSP00000381378:V161F;ENSP00000397849:V161F	ENSP00000326819:V161F	V	-	1	0	FANCB	14793073	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.074000	0.03427	-1.526000	0.01760	-0.354000	0.07668	GTT		0.393	FANCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055835.1	NM_152633		35	8	1	0	6.53348e-20	1	7.17401e-20	35	8					A	14883152	C	A	14883152	3	1	276	1	0	0	0	0	1	0	0	0	5663	478	17	5	2130	5	FANCB	23	14883152	Missense_Mutation	SNP	C	TCGA-J4-A83I-01A-11D-A364-08	11647747	14883152	140387408	39	12781											
SAMD11	148398	broad.mit.edu	37	chr1	877557	877557	+	Frame_Shift_Del	DEL	C	C	-																															cttgctgtcgccgcagaatgCccctcacgtcgccctgggcc																										TCGA-J4-A83J-01A-11D-A364-08	TCGA-J4-A83J-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26425bd7-6764-40d8-bfc9-fe8738359cc2	1da444be-497e-4cd9-96a8-1643c6f3d878	g.chr1:877557delC	ENST00000342066.3	+	9	994	c.911delC	c.(910-912)gccfs	p.A304fs		NM_152486.2	NP_689699	Q96NU1	SAM11_HUMAN	sterile alpha motif domain containing 11	304					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	nucleus (GO:0005634)				breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.74e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.93e-23)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.000472)|Kidney(185;0.0023)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.199)		CCGCAGAATGCCCCTCACGTC	0.736																																						ENST00000342066.3																			0				breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						c.(910-912)gcfs		sterile alpha motif domain containing 11							5	7	6					1																	877557		2027	4059	6086	SO:0001589	frameshift_variant	148398					nucleus		g.chr1:877557delC	BC024295	CCDS2.2	1p36.33	2013-01-10			ENSG00000187634	ENSG00000187634		"Sterile alpha motif (SAM) domain containing"	28706	protein-coding gene	gene with protein product						12477932	Standard	NM_152486		Approved	MGC45873	uc001abw.1	Q96NU1	OTTHUMG00000040719	ENST00000342066.3:c.911delC	1.37:g.877557delC	ENSP00000342313:p.Ala304fs						p.A304fs	NM_152486.2	NP_689699.2	Q96NU1	SAM11_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.74e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.93e-23)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.000472)|Kidney(185;0.0023)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.199)	9	994	+	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)	304					A2AA76|I7FV78|I7FV81|I7G0Z6|Q5SV96|Q5SV99|Q5SVA0|Q8N195|Q8TB59	Frame_Shift_Del	DEL	ENST00000342066.3	37	c.911delC	CCDS2.2																																																																																				0.736	SAMD11-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276866.2	NM_152486		2	4						2	4	---	---	---	---	-	877557	C	-	877557	7	5	277	1	0	1	0	1	0	0	0	0	13816	739	26	0	941	0	SAMD11	1	877557	Frame_Shift_Del	DEL	C	TCGA-J4-A83J-01A-11D-A364-08		877557	248373064	1	12782											
RSC1A1	6248	broad.mit.edu	37	chr1	15986477	15986477	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tctgtctctgcttcagtctgCcctatcaagcccagtgactc	6	13	7	15	0	5	1	2	1	3	0	7	1	5	1	2	0	3	1	2	0	2	2	rs533088478		TCGA-J4-A83J-01A-11D-A364-08	TCGA-J4-A83J-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26425bd7-6764-40d8-bfc9-fe8738359cc2	1da444be-497e-4cd9-96a8-1643c6f3d878	g.chr1:15986477C>T	ENST00000345034.1	+	1	114	c.114C>T	c.(112-114)tgC>tgT	p.C38C	DDI2_ENST00000480945.1_3'UTR	NM_006511.1	NP_006502.1	Q92681	RSCA1_HUMAN	regulatory solute carrier protein, family 1, member 1	38					intestinal absorption (GO:0050892)|negative regulation of transport (GO:0051051)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|transport (GO:0006810)	brush border (GO:0005903)|cell junction (GO:0030054)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ion channel inhibitor activity (GO:0008200)			kidney(1)|large_intestine(3)|lung(6)|ovary(1)	11		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00276)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.73e-07)|COAD - Colon adenocarcinoma(227;3.49e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000114)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		CTTCAGTCTGCCCTATCAAGC	0.473													C|||	1	0.000199681	0	0	5008	,	,		21016	0		0	False		,,,				2504	0.001					ENST00000345034.1																			0				kidney(1)|large_intestine(3)|lung(6)|ovary(1)	11						c.(112-114)tgC>tgT		regulatory solute carrier protein, family 1, member 1							184	191	189					1																	15986477		2203	4300	6503	SO:0001819	synonymous_variant	6248				negative regulation of transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transport	cell junction|Golgi apparatus|nucleus	ion channel inhibitor activity	g.chr1:15986477C>T	BN000122, X82877	CCDS161.1	1p36.1	1998-08-25			ENSG00000215695	ENSG00000215695			10458	protein-coding gene	gene with protein product		601966					Standard	NM_006511		Approved	RS1	uc010obn.2	Q92681	OTTHUMG00000067830	ENST00000345034.1:c.114C>T	1.37:g.15986477C>T						DDI2_ENST00000480945.1_3'UTR	p.C38C	NM_006511.1	NP_006502.1	Q92681	RSCA1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.73e-07)|COAD - Colon adenocarcinoma(227;3.49e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000114)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)	1	114	+		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00276)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)	38					B2RBP5	Silent	SNP	ENST00000345034.1	37	c.114C>T	CCDS161.1																																																																																				0.473	RSC1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000145500.1	NM_006511		5	152	0	0	0	1	0	5	152					T	15986477	C	T	15986477	2	4	277	1	0	0	0	0	0	0	0	1	13698	747	26	3		3	RSC1A1	1	15986477	Silent	SNP	C	TCGA-J4-A83J-01A-11D-A364-08	15108920	15986477	233264144	2	12783											
GRIK3	2899	broad.mit.edu	37	chr1	37267464	37267464	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agctgtgcctaggggaacacAggggctaaggatgtgctgca	10	7	16	8	0	0	0	0	0	0	0	0	2	0	2	1	5	5	4	1	5	3	2			TCGA-J4-A83J-01A-11D-A364-08	TCGA-J4-A83J-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26425bd7-6764-40d8-bfc9-fe8738359cc2	1da444be-497e-4cd9-96a8-1643c6f3d878	g.chr1:37267464A>T	ENST00000373091.3	-	16	2764	c.2748T>A	c.(2746-2748)ccT>ccA	p.P916P		NM_000831.3	NP_000822.2	Q13003	GRIK3_HUMAN	glutamate receptor, ionotropic, kainate 3	916					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	axon (GO:0030424)|cell junction (GO:0030054)|dendrite (GO:0030425)|dendrite cytoplasm (GO:0032839)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	adenylate cyclase inhibiting G-protein coupled glutamate receptor activity (GO:0001640)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|ionotropic glutamate receptor activity (GO:0004970)|kainate selective glutamate receptor activity (GO:0015277)			breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	89		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)				AGGGGAACACAGGGGCTAAGG	0.612																																						ENST00000373091.3																			0				breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	89						c.(2746-2748)ccT>ccA		glutamate receptor, ionotropic, kainate 3	L-Glutamic Acid(DB00142)						75	62	67					1																	37267464		2203	4300	6503	SO:0001819	synonymous_variant	2899				negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission	cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button	adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|G-protein-coupled receptor binding|kainate selective glutamate receptor activity	g.chr1:37267464A>T	U16127	CCDS416.1	1p34.3	2012-08-29			ENSG00000163873	ENSG00000163873		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4581	protein-coding gene	gene with protein product		138243				8128318	Standard	NM_000831		Approved	GluK3, GLUR7	uc001caz.2	Q13003	OTTHUMG00000004189	ENST00000373091.3:c.2748T>A	1.37:g.37267464A>T							p.P916P	NM_000831.3	NP_000822.2	Q13003	GRIK3_HUMAN			16	2764	-		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)	916					A9Z1Z8|B1AMS6|Q13004|Q16136	Silent	SNP	ENST00000373091.3	37	c.2748T>A	CCDS416.1																																																																																				0.612	GRIK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012053.1	NM_000831		3	33	0	0	0	1	0	3	33					T	37267464	A	T	37267464	2	4	277	1	0	0	0	0	0	0	0	1	6775	175	7	5		5	GRIK3	1	37267464	Silent	SNP	A	TCGA-J4-A83J-01A-11D-A364-08	21280987	37267464	211983157	3	12784											
F13B	2165	broad.mit.edu	37	chr1	197030039	197030039	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagaacctactggtacatttTggtgtgagagaccatccgta	11	11	11	8	1	0	3	0	1	0	2	1	5	1	3	3	2	3	2	3	2	4	5			TCGA-J4-A83J-01A-11D-A364-08	TCGA-J4-A83J-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26425bd7-6764-40d8-bfc9-fe8738359cc2	1da444be-497e-4cd9-96a8-1643c6f3d878	g.chr1:197030039T>A	ENST00000367412.1	-	4	661	c.618A>T	c.(616-618)ccA>ccT	p.P206P		NM_001994.2	NP_001985.2	P05160	F13B_HUMAN	coagulation factor XIII, B polypeptide	206	Sushi 3. {ECO:0000255|PROSITE- ProRule:PRU00302}.				blood coagulation (GO:0007596)	extracellular region (GO:0005576)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(40)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	66						TGGTACATTTTGGTGTGAGAG	0.393																																						ENST00000367412.1																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(40)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	66						c.(616-618)ccA>ccT		coagulation factor XIII, B polypeptide							208	190	196					1																	197030039		2203	4300	6503	SO:0001819	synonymous_variant	2165				blood coagulation	extracellular region		g.chr1:197030039T>A	M14057	CCDS1388.1	1q31-q32.1	2012-10-02			ENSG00000143278	ENSG00000143278			3534	protein-coding gene	gene with protein product		134580				2339067, 2271707	Standard	NM_001994		Approved	FXIIIB	uc001gtt.1	P05160	OTTHUMG00000036519	ENST00000367412.1:c.618A>T	1.37:g.197030039T>A							p.P206P	NM_001994.2	NP_001985.2	P05160	F13B_HUMAN			4	661	-			206			Sushi 3.		A8K3E5|Q5VYL5	Silent	SNP	ENST00000367412.1	37	c.618A>T	CCDS1388.1																																																																																				0.393	F13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088821.2	NM_001994		23	52	0	0	0	1	0	23	52					A	197030039	T	A	197030039	2	1	277	1	0	0	0	0	0	0	0	1	5341	1799	63	5		5	F13B	1	197030039	Silent	SNP	T	TCGA-J4-A83J-01A-11D-A364-08	159762575	197030039	52220582	4	12785											
OR2L3	391192	broad.mit.edu	37	chr1	248224169	248224169	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acacccatgtatttcctactTagtcagctctccctcattga	9	14	4	14	0	3	1	2	1	1	0	5	1	4	1	3	0	2	2	3	0	3	5			TCGA-J4-A83J-01A-11D-A364-08	TCGA-J4-A83J-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26425bd7-6764-40d8-bfc9-fe8738359cc2	1da444be-497e-4cd9-96a8-1643c6f3d878	g.chr1:248224169T>G	ENST00000359959.3	+	1	186	c.186T>G	c.(184-186)ctT>ctG	p.L62L	OR2L13_ENST00000366478.2_Intron	NM_001004687.1	NP_001004687.1	Q8NG85	OR2L3_HUMAN	olfactory receptor, family 2, subfamily L, member 3	62						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L62L(1)		cervix(1)|endometrium(2)|large_intestine(7)|lung(28)|prostate(1)|skin(1)|urinary_tract(1)	41	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0278)			ATTTCCTACTTAGTCAGCTCT	0.408																																						ENST00000359959.3																			1	Substitution - coding silent(1)	p.L62L(1)	urinary_tract(1)	cervix(1)|endometrium(2)|large_intestine(7)|lung(28)|prostate(1)|skin(1)|urinary_tract(1)	41						c.(184-186)ctT>ctG		olfactory receptor, family 2, subfamily L, member 3							333	313	320					1																	248224169		2203	4297	6500	SO:0001819	synonymous_variant	391192				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248224169T>G	AB065950	CCDS31104.1	1q44	2012-08-09			ENSG00000198128	ENSG00000198128		"GPCR / Class A : Olfactory receptors"	15009	protein-coding gene	gene with protein product							Standard	NM_001004687		Approved		uc001idx.1	Q8NG85	OTTHUMG00000040195	ENST00000359959.3:c.186T>G	1.37:g.248224169T>G						OR2L13_ENST00000366478.2_Intron	p.L62L	NM_001004687.1	NP_001004687.1	Q8NG85	OR2L3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0278)		1	186	+	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		62					B9EH44	Silent	SNP	ENST00000359959.3	37	c.186T>G	CCDS31104.1																																																																																				0.408	OR2L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096852.1	NM_001004687		4	295	0	0	0	1	0	4	295					G	248224169	T	G	248224169	2	3	277	1	0	0	0	0	0	0	0	1	11008	1741	61	5		5	OR2L3	1	248224169	Silent	SNP	T	TCGA-J4-A83J-01A-11D-A364-08	51194130	248224169	1026452	5	12786											
DPYSL5	56896	broad.mit.edu	37	chr2	27147850	27147850	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tatgagaagtgccgaggtctGgccgaccccaaggtctgctg	8	8	14	11	2	2	1	0	1	2	1	2	4	2	1	4	3	2	1	4	3	3	1			TCGA-J4-A83J-01A-11D-A364-08	TCGA-J4-A83J-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26425bd7-6764-40d8-bfc9-fe8738359cc2	1da444be-497e-4cd9-96a8-1643c6f3d878	g.chr2:27147850G>A	ENST00000288699.6	+	3	515	c.357G>A	c.(355-357)ctG>ctA	p.L119L	DPYSL5_ENST00000401478.1_Silent_p.L119L	NM_001253724.1|NM_020134.3	NP_001240653.1|NP_064519.2	Q9BPU6	DPYL5_HUMAN	dihydropyrimidinase-like 5	119					axon guidance (GO:0007411)|nervous system development (GO:0007399)|pyrimidine nucleobase catabolic process (GO:0006208)|signal transduction (GO:0007165)	cytosol (GO:0005829)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides (GO:0016812)			breast(1)|endometrium(5)|large_intestine(2)|lung(13)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	27	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCCGAGGTCTGGCCGACCCCA	0.617																																						ENST00000288699.6																			0				breast(1)|endometrium(5)|large_intestine(2)|lung(13)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	27						c.(355-357)ctG>ctA		dihydropyrimidinase-like 5							99	85	90					2																	27147850		2203	4300	6503	SO:0001819	synonymous_variant	56896				axon guidance|pyrimidine base catabolic process|signal transduction	cytosol	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides	g.chr2:27147850G>A	AF264015	CCDS1730.1	2p23.3	2008-02-05			ENSG00000157851	ENSG00000157851			20637	protein-coding gene	gene with protein product		608383				10851247, 11034345	Standard	NM_020134		Approved	CRMP5, Ulip6, CRMP-5, CRAM	uc002rhu.4	Q9BPU6	OTTHUMG00000097071	ENST00000288699.6:c.357G>A	2.37:g.27147850G>A						DPYSL5_ENST00000401478.1_Silent_p.L119L	p.L119L	NM_001253724.1|NM_020134.3	NP_001240653.1|NP_064519.2	Q9BPU6	DPYL5_HUMAN			3	515	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		119					Q8TCL6|Q9NQC4|Q9NRY9	Silent	SNP	ENST00000288699.6	37	c.357G>A	CCDS1730.1																																																																																				0.617	DPYSL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214187.2	NM_020134		9	13	0	0	0	1	0	9	13					A	27147850	G	A	27147850	2	1	277	1	0	0	0	0	0	0	0	1	4750	1335	47	3		3	DPYSL5	2	27147850	Silent	SNP	G	TCGA-J4-A83J-01A-11D-A364-08		27147850	216051523	6	12787											
KIAA1310	55683	broad.mit.edu	37	chr2	97276875	97276875	+	Splice_Site	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gacatactccattactgacaCctgtaaataacagaacagtt	16	10	5	10	0	0	2	0	1	0	1	1	3	1	2	2	0	4	2	2	0	6	5	rs532815065		TCGA-J4-A83J-01A-11D-A364-08	TCGA-J4-A83J-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26425bd7-6764-40d8-bfc9-fe8738359cc2	1da444be-497e-4cd9-96a8-1643c6f3d878	g.chr2:97276875C>G	ENST00000431828.1	-	10	1163	c.1087G>C	c.(1087-1089)Gtg>Ctg	p.V363L	KANSL3_ENST00000441706.2_Splice_Site_p.V276L|KANSL3_ENST00000599854.1_Splice_Site_p.V276L|KANSL3_ENST00000487070.1_5'UTR|KANSL3_ENST00000440133.1_Splice_Site_p.V157L			Q9P2N6	KANL3_HUMAN	KAT8 regulatory NSL complex subunit 3	363					chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)	histone acetyltransferase complex (GO:0000123)|intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)											ATTACTGACACCTGTAAATAA	0.498																																						ENST00000599854.1																			0											c.e10-1		KAT8 regulatory NSL complex subunit 3							128	129	129					2																	97276875		2067	4197	6264	SO:0001630	splice_region_variant	55683							g.chr2:97276875C>G	BC063792	CCDS46361.1	2q11.2	2011-10-31	2011-10-31	2011-10-31	ENSG00000114982	ENSG00000114982			25473	protein-coding gene	gene with protein product			"KIAA1310"	KIAA1310			Standard	NM_001115016		Approved	FLJ10081, Rcd1, NSL3	uc002swn.5	Q9P2N6	OTTHUMG00000155249	ENST00000431828.1:c.1087-1G>C	2.37:g.97276875C>G						KANSL3_ENST00000431828.1_Splice_Site_p.V363_splice|KANSL3_ENST00000441706.2_Splice_Site_p.V276_splice|KANSL3_ENST00000440133.1_Splice_Site_p.V157_splice|KANSL3_ENST00000487070.1_5'UTR	p.V276_splice	NM_001115016.2	NP_001108488.1	Q9P2N6	K1310_HUMAN			10	1293	-			363					A1L184|D3DXH3|D3DXH4|Q05BU4|Q6P3X2|Q6PJH6|Q86T19|Q96L64|Q9H0C9|Q9H8C9|Q9HAP8|Q9NWE5	Splice_Site	SNP	ENST00000431828.1	37	c.825_splice	CCDS46361.1	.	.	.	.	.	.	.	.	.	.	C	19.30	3.801738	0.70682	.	.	ENSG00000114982	ENST00000354204;ENST00000447759;ENST00000431828;ENST00000441706;ENST00000440133;ENST00000444759;ENST00000452268	T;T;T	0.18338	2.22;2.22;2.22	5.08	5.08	0.68730	.	0.000000	0.85682	D	0.000000	T	0.41096	0.1144	M	0.70275	2.135	0.80722	D	1	D;D;D;D	0.69078	0.997;0.99;0.996;0.99	D;D;D;D	0.80764	0.994;0.98;0.99;0.986	T	0.08249	-1.0731	10	0.41790	T	0.15	.	16.0044	0.80349	0.0:1.0:0.0:0.0	.	157;363;276;251	B4E1W4;Q9P2N6-3;Q9P2N6-5;Q9P2N6-6	.;.;.;.	L	276;251;363;276;157;157;276	ENSP00000396749:V363L;ENSP00000400678:V276L;ENSP00000406207:V157L	ENSP00000346144:V276L	V	-	1	0	KIAA1310	96640602	1.000000	0.71417	0.998000	0.56505	0.714000	0.41099	5.967000	0.70403	2.648000	0.89879	0.462000	0.41574	GTG		0.498	KANSL3-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339040.2	NM_017991	Missense_Mutation	10	38	0	0	0	1	0	10	38					G	97276875	C	G	97276875	5	3	277	1	0	0	0	0	0	0	1	0	8222	521	18	5	1597	5	KIAA1310	2	97276875	Splice_Site	SNP	C	TCGA-J4-A83J-01A-11D-A364-08	70129025	97276875	145922498	7	12788											
NCKAP5	344148	broad.mit.edu	37	chr2	133636429	133636429	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catcccccttacctcatcaaGacatcgctcatattgttccc	9	12	3	17	1	3	1	3	0	0	1	6	1	5	1	4	0	1	2	4	0	3	4			TCGA-J4-A83J-01A-11D-A364-08	TCGA-J4-A83J-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26425bd7-6764-40d8-bfc9-fe8738359cc2	1da444be-497e-4cd9-96a8-1643c6f3d878	g.chr2:133636429G>T	ENST00000409261.1	-	9	1013	c.640C>A	c.(640-642)Ctt>Att	p.L214I	NCKAP5_ENST00000405974.3_Missense_Mutation_p.L214I|NCKAP5_ENST00000409213.1_Missense_Mutation_p.L214I|NCKAP5_ENST00000317721.6_Missense_Mutation_p.L214I	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	214										NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						ACCTCATCAAGACATCGCTCA	0.418																																						ENST00000409261.1																			0				NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						c.(640-642)Ctt>Att		NCK-associated protein 5							181	176	178					2																	133636429		2001	4156	6157	SO:0001583	missense	344148						protein binding	g.chr2:133636429G>T	AB005217	CCDS46417.1, CCDS46418.1	2q21.2	2010-02-17			ENSG00000176771	ENSG00000176771			29847	protein-coding gene	gene with protein product	"Nck associated protein 5", "peripheral clock protein"	608789				9344857	Standard	NM_207363		Approved	NAP5, ERIH1, ERIH2	uc002ttp.3	O14513	OTTHUMG00000153573	ENST00000409261.1:c.640C>A	2.37:g.133636429G>T	ENSP00000387128:p.Leu214Ile					NCKAP5_ENST00000409213.1_Missense_Mutation_p.L214I|NCKAP5_ENST00000405974.3_Missense_Mutation_p.L214I|NCKAP5_ENST00000317721.6_Missense_Mutation_p.L214I	p.L214I	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN			9	1013	-			214					B8ZZL0|Q29SS9|Q29ST0|Q2NL90|Q6ZVE2|Q8NAS3	Missense_Mutation	SNP	ENST00000409261.1	37	c.640C>A	CCDS46418.1	.	.	.	.	.	.	.	.	.	.	G	16.26	3.073672	0.55646	.	.	ENSG00000176771	ENST00000409261;ENST00000409213;ENST00000317721;ENST00000405974;ENST00000537661	T;T;T;T	0.78126	0.74;-1.15;0.74;-1.15	5.7	5.7	0.88788	.	0.000000	0.28209	U	0.016191	D	0.85771	0.5774	L	0.52573	1.65	0.30147	N	0.803404	D;P	0.89917	1.0;0.633	D;P	0.83275	0.996;0.686	D	0.83535	0.0093	10	0.87932	D	0	.	18.0183	0.89248	0.0:0.0:1.0:0.0	.	214;214	O14513-2;O14513	.;NCKP5_HUMAN	I	214	ENSP00000387128:L214I;ENSP00000386952:L214I;ENSP00000380603:L214I;ENSP00000385692:L214I	ENSP00000380603:L214I	L	-	1	0	NCKAP5	133352899	1.000000	0.71417	1.000000	0.80357	0.903000	0.53119	7.151000	0.77411	2.711000	0.92665	0.561000	0.74099	CTT		0.418	NCKAP5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331663.1	NM_207481		7	17	1	0	8.12818e-05	1	8.47163e-05	7	17					T	133636429	G	T	133636429	3	4	277	1	0	0	0	0	1	0	0	0	10223	942	33	5	5137	5	NCKAP5	2	133636429	Missense_Mutation	SNP	G	TCGA-J4-A83J-01A-11D-A364-08	36359554	133636429	109562944	8	12789											
ASNSD1	54529	broad.mit.edu	37	chr2	190531908	190531910	+	In_Frame_Del	DEL	TCT	TCT	-																															cctttagatgaaccaattgaTcttcttaatgtagctttcat																										TCGA-J4-A83J-01A-11D-A364-08	TCGA-J4-A83J-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26425bd7-6764-40d8-bfc9-fe8738359cc2	1da444be-497e-4cd9-96a8-1643c6f3d878	g.chr2:190531908_190531910delTCT	ENST00000260952.4	+	4	1463_1465	c.1050_1052delTCT	c.(1048-1053)gatctt>gat	p.L352del	ASNSD1_ENST00000607062.1_Intron	NM_019048.2	NP_061921	Q9NWL6	ASND1_HUMAN	asparagine synthetase domain containing 1	352	Asparagine synthetase.				asparagine biosynthetic process (GO:0006529)|glutamine metabolic process (GO:0006541)		asparagine synthase (glutamine-hydrolyzing) activity (GO:0004066)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(3)	25			OV - Ovarian serous cystadenocarcinoma(117;0.00318)|Epithelial(96;0.0449)|all cancers(119;0.118)			AACCAATTGATCTTCTTAATGTA	0.369																																						ENST00000260952.4																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(3)	25						c.(1048-1053)gat>ga		asparagine synthetase domain containing 1																																				SO:0001651	inframe_deletion	54529				asparagine biosynthetic process|glutamine metabolic process		asparagine synthase (glutamine-hydrolyzing) activity	g.chr2:190531908_190531910delTCT	AY116969	CCDS2300.1	2q32.2	2012-09-20			ENSG00000138381	ENSG00000138381			24910	protein-coding gene	gene with protein product							Standard	NM_019048		Approved	NS3TP1, FLJ20752, NBLA00058	uc002uqt.3	Q9NWL6	OTTHUMG00000132665	ENST00000260952.4:c.1050_1052delTCT	2.37:g.190531911_190531913delTCT	ENSP00000260952:p.Leu352del					ASNSD1_ENST00000607062.1_Intron	p.DL350del	NM_019048.2	NP_061921.1	Q9NWL6	ASND1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00318)|Epithelial(96;0.0449)|all cancers(119;0.118)		4	1463_1465	+			350			Asparagine synthetase.		D3DPH6|Q3LIC3|Q4ZG45	In_Frame_Del	DEL	ENST00000260952.4	37	c.1050_1052delTCT	CCDS2300.1																																																																																				0.369	ASNSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255919.3	NM_019048		27	97						27	97	---	---	---	---	-	190531910	TCT	-	190531908	7	5	277	1	0	1	0	1	0	0	0	0	1049	1432	50	0	1052	0	ASNSD1	2	190531908	In_Frame_Del	DEL	TCT	TCGA-J4-A83J-01A-11D-A364-08	56895479	190531908	52667465	9	12790											
OSGEPL1	64172	broad.mit.edu	37	chr2	190626231	190626231	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcagctgctgtatcatcacAactagtttcaattcccaata	13	12	5	11	0	3	0	3	0	0	0	4	0	4	0	1	0	4	5	1	0	6	5			TCGA-J4-A83J-01A-11D-A364-08	TCGA-J4-A83J-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26425bd7-6764-40d8-bfc9-fe8738359cc2	1da444be-497e-4cd9-96a8-1643c6f3d878	g.chr2:190626231A>G	ENST00000264151.5	-	2	238	c.136T>C	c.(136-138)Tgt>Cgt	p.C46R	OSGEPL1_ENST00000522700.1_Missense_Mutation_p.C46R|OSGEPL1_ENST00000519810.1_Missense_Mutation_p.C46R|OSGEPL1-AS1_ENST00000523895.1_RNA|OSGEPL1-AS1_ENST00000521819.1_RNA|OSGEPL1-AS1_ENST00000520651.1_RNA|RP11-455J20.3_ENST00000608680.1_RNA	NM_022353.2	NP_071748.2			O-sialoglycoprotein endopeptidase-like 1											large_intestine(2)|upper_aerodigestive_tract(1)	3			OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0293)|all cancers(119;0.0831)			GTATCATCACAACTAGTTTCA	0.318																																						ENST00000519810.1																			0				large_intestine(2)|upper_aerodigestive_tract(1)	3						c.(136-138)Tgt>Cgt		O-sialoglycoprotein endopeptidase-like 1							84	82	83					2																	190626231		1846	4097	5943	SO:0001583	missense	64172				proteolysis|tRNA processing		metalloendopeptidase activity	g.chr2:190626231A>G	AJ295148	CCDS46472.1	2q32	2011-08-12			ENSG00000128694	ENSG00000128694			23075	protein-coding gene	gene with protein product						19578062	Standard	NM_022353		Approved	Qri7	uc002uqz.1	Q9H4B0	OTTHUMG00000164096	ENST00000264151.5:c.136T>C	2.37:g.190626231A>G	ENSP00000264151:p.Cys46Arg					OSGEPL1_ENST00000264151.5_Missense_Mutation_p.C46R|OSGEPL1_ENST00000522700.1_Missense_Mutation_p.C46R	p.C46R			Q9H4B0	OSGP2_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0293)|all cancers(119;0.0831)		3	478	-			46						Missense_Mutation	SNP	ENST00000264151.5	37	c.136T>C	CCDS46472.1	.	.	.	.	.	.	.	.	.	.	A	21.9	4.214302	0.79352	.	.	ENSG00000128694	ENST00000264151;ENST00000519810;ENST00000522700;ENST00000517895;ENST00000521630	T;T;T	0.17528	2.27;2.27;2.27	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	T	0.46073	0.1374	M	0.80183	2.485	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.996;0.998	T	0.49661	-0.8916	10	0.87932	D	0	-13.089	16.0829	0.81017	1.0:0.0:0.0:0.0	.	46;46	B4DGY7;Q9H4B0	.;OSGP2_HUMAN	R	46	ENSP00000264151:C46R;ENSP00000428859:C46R;ENSP00000429697:C46R	ENSP00000264151:C46R	C	-	1	0	OSGEPL1	190334476	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	8.779000	0.91792	2.194000	0.70268	0.482000	0.46254	TGT		0.318	OSGEPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377257.1	NM_022353		3	73	0	0	0	1	0	3	73					G	190626231	A	G	190626231	3	3	277	1	0	0	0	0	1	0	0	0	11288	130	5	4	1136	4	OSGEPL1	2	190626231	Missense_Mutation	SNP	A	TCGA-J4-A83J-01A-11D-A364-08	94323	190626231	52573142	10	12791											
CAB39	51719	broad.mit.edu	37	chr2	231663527	231663527	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accacttgcaaaaatcatttTgtggtcggaacagttttatg	12	14	8	7	1	1	0	1	0	0	0	2	1	1	1	1	2	2	2	1	2	4	5			TCGA-J4-A83J-01A-11D-A364-08	TCGA-J4-A83J-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26425bd7-6764-40d8-bfc9-fe8738359cc2	1da444be-497e-4cd9-96a8-1643c6f3d878	g.chr2:231663527T>C	ENST00000258418.5	+	5	911	c.482T>C	c.(481-483)tTg>tCg	p.L161S	CAB39_ENST00000409788.3_Missense_Mutation_p.L161S|CAB39_ENST00000410084.3_Missense_Mutation_p.L161S	NM_016289.3	NP_057373.1	Q9Y376	CAB39_HUMAN	calcium binding protein 39	161					activation of protein kinase activity (GO:0032147)|cell cycle arrest (GO:0007050)|cellular hypotonic response (GO:0071476)|insulin receptor signaling pathway (GO:0008286)|intracellular signal transduction (GO:0035556)|negative regulation of potassium ion transmembrane transport (GO:1901380)|negative regulation of potassium ion transmembrane transporter activity (GO:1901017)|negative regulation of rubidium ion transmembrane transporter activity (GO:2000687)|negative regulation of rubidium ion transport (GO:2000681)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|protein heterooligomerization (GO:0051291)|signal transduction by phosphorylation (GO:0023014)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)	kinase binding (GO:0019900)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activator activity (GO:0043539)			central_nervous_system(1)|large_intestine(1)|skin(1)	3		all_lung(227;4.63e-07)|all_hematologic(139;1.83e-06)|Lung NSC(271;2.11e-05)|Acute lymphoblastic leukemia(138;5.51e-05)|Hepatocellular(293;0.0207)|Lung SC(224;0.187)		all cancers(144;1.64e-12)|Epithelial(121;5.29e-11)|LUSC - Lung squamous cell carcinoma(224;0.0154)|Lung(119;0.0177)|COAD - Colon adenocarcinoma(134;0.226)		AAAATCATTTTGTGGTCGGAA	0.338																																						ENST00000258418.5																			0				central_nervous_system(1)|large_intestine(1)|skin(1)	3						c.(481-483)tTg>tCg		calcium binding protein 39							88	87	88					2																	231663527		2203	4300	6503	SO:0001583	missense	51719				cell cycle arrest|insulin receptor signaling pathway|regulation of fatty acid oxidation	cytosol	kinase binding	g.chr2:231663527T>C	AF113536	CCDS2478.1	2q37.1	2008-02-05			ENSG00000135932	ENSG00000135932			20292	protein-coding gene	gene with protein product		612174					Standard	NM_016289		Approved	CGI-66, MO25	uc002vqx.3	Q9Y376	OTTHUMG00000133220	ENST00000258418.5:c.482T>C	2.37:g.231663527T>C	ENSP00000258418:p.Leu161Ser					CAB39_ENST00000410084.3_Missense_Mutation_p.L161S|CAB39_ENST00000409788.3_Missense_Mutation_p.L161S	p.L161S	NM_016289.3	NP_057373.1	Q9Y376	CAB39_HUMAN		all cancers(144;1.64e-12)|Epithelial(121;5.29e-11)|LUSC - Lung squamous cell carcinoma(224;0.0154)|Lung(119;0.0177)|COAD - Colon adenocarcinoma(134;0.226)	5	911	+		all_lung(227;4.63e-07)|all_hematologic(139;1.83e-06)|Lung NSC(271;2.11e-05)|Acute lymphoblastic leukemia(138;5.51e-05)|Hepatocellular(293;0.0207)|Lung SC(224;0.187)	161					A8K8L7	Missense_Mutation	SNP	ENST00000258418.5	37	c.482T>C	CCDS2478.1	.	.	.	.	.	.	.	.	.	.	T	23.0	4.357701	0.82243	.	.	ENSG00000135932	ENST00000258418;ENST00000409788;ENST00000410084	T;T;T	0.38077	1.16;1.16;1.16	5.58	5.58	0.84498	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.70666	0.3250	H	0.95780	3.72	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.80125	-0.1513	10	0.87932	D	0	.	13.6933	0.62562	0.0:0.0:0.0:1.0	.	161	Q9Y376	CAB39_HUMAN	S	161	ENSP00000258418:L161S;ENSP00000386238:L161S;ENSP00000386642:L161S	ENSP00000258418:L161S	L	+	2	0	CAB39	231371771	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	8.040000	0.89188	2.114000	0.64651	0.383000	0.25322	TTG		0.338	CAB39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256955.2	NM_016289		16	37	0	0	0	1	0	16	37					C	231663527	T	C	231663527	3	2	277	1	0	0	0	0	1	0	0	0	2525	1821	63	4	496	4	CAB39	2	231663527	Missense_Mutation	SNP	T	TCGA-J4-A83J-01A-11D-A364-08	41037296	231663527	11535846	11	12792											
KIF1A	547	broad.mit.edu	37	chr2	241726712	241726712	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gttggtcgtgtcgttgatccGagagaagaggtcctcgcaga	8	10	15	8	4	0	4	0	1	0	3	5	6	2	4	2	2	0	3	2	2	1	2			TCGA-J4-A83J-01A-11D-A364-08	TCGA-J4-A83J-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26425bd7-6764-40d8-bfc9-fe8738359cc2	1da444be-497e-4cd9-96a8-1643c6f3d878	g.chr2:241726712G>A	ENST00000320389.7	-	5	543	c.385C>T	c.(385-387)Cgg>Tgg	p.R129W	KIF1A_ENST00000498729.2_Missense_Mutation_p.R129W	NM_004321.6	NP_004312.2	Q12756	KIF1A_HUMAN	kinesin family member 1A	129	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				anterograde axon cargo transport (GO:0008089)|ATP catabolic process (GO:0006200)|cell death (GO:0008219)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|motor activity (GO:0003774)|plus-end-directed microtubule motor activity (GO:0008574)			NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)		TCGTTGATCCGAGAGAAGAGG	0.652																																						ENST00000498729.2																			0				NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66						c.(385-387)Cgg>Tgg		kinesin family member 1A							84	102	96					2																	241726712		2066	4200	6266	SO:0001583	missense	547				anterograde axon cargo transport	cytoplasm|microtubule|nucleus	ATP binding|microtubule motor activity	g.chr2:241726712G>A	AF004425	CCDS46561.1, CCDS58757.1	2q37.2	2014-09-17	2004-01-09	2004-01-14	ENSG00000130294	ENSG00000130294		"Kinesins", "Pleckstrin homology (PH) domain containing"	888	protein-coding gene	gene with protein product		601255	"axonal transport of synaptic vesicles", "chromosome 2 open reading frame 20", "spastic paraplegia 30 (autosomal recessive)"	ATSV, C2orf20, SPG30		7539720, 10323250, 22258533	Standard	NM_001244008		Approved	UNC104	uc010fzk.3	Q12756	OTTHUMG00000151940	ENST00000320389.7:c.385C>T	2.37:g.241726712G>A	ENSP00000322791:p.Arg129Trp					KIF1A_ENST00000320389.7_Missense_Mutation_p.R129W	p.R129W	NM_001244008.1	NP_001230937.1	Q12756	KIF1A_HUMAN		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)	5	631	-		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)	129			Kinesin-motor.		B0I1S5|F5H045|O95068|Q13355|Q14752|Q2NKJ6|Q4LE42|Q53T78|Q59GH1|Q63Z40|Q6P1R9|Q7KZ57	Missense_Mutation	SNP	ENST00000320389.7	37	c.385C>T	CCDS46561.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.980193	0.74474	.	.	ENSG00000130294	ENST00000320389;ENST00000498729;ENST00000373308;ENST00000404283	T;T;T	0.76060	-0.99;-0.99;-0.99	4.51	4.51	0.55191	Kinesin, motor domain (4);	0.069857	0.56097	U	0.000025	D	0.88858	0.6551	M	0.90922	3.16	0.58432	D	0.999998	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.78314	0.991;0.983;0.985	D	0.91877	0.5512	10	0.87932	D	0	.	16.8348	0.85954	0.0:0.0:1.0:0.0	.	129;129;129	F5H045;Q12756-2;Q12756	.;.;KIF1A_HUMAN	W	129	ENSP00000322791:R129W;ENSP00000438388:R129W;ENSP00000384231:R129W	ENSP00000322791:R129W	R	-	1	2	KIF1A	241375385	1.000000	0.71417	0.735000	0.30896	0.716000	0.41182	3.109000	0.50345	2.066000	0.61787	0.655000	0.94253	CGG		0.652	KIF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324536.3	NM_138483		15	32	0	0	0	1	0	15	32					A	241726712	G	A	241726712	3	1	277	1	0	0	0	0	1	0	0	0	8283	1057	37	2	4859	2	KIF1A	2	241726712	Missense_Mutation	SNP	G	TCGA-J4-A83J-01A-11D-A364-08	10063185	241726712	1472661	12	12793											
RBM6	10180	broad.mit.edu	37	chr3	50005613	50005613	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agactttagggacagggataCgccacattcagatttcagag	13	9	11	8	1	2	3	2	0	0	3	2	5	2	5	1	2	1	0	1	2	2	5	rs369268393		TCGA-J4-A83J-01A-11D-A364-08	TCGA-J4-A83J-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26425bd7-6764-40d8-bfc9-fe8738359cc2	1da444be-497e-4cd9-96a8-1643c6f3d878	g.chr3:50005613C>T	ENST00000266022.4	+	3	1014	c.755C>T	c.(754-756)aCg>aTg	p.T252M	RBM6_ENST00000422955.1_Intron|RBM6_ENST00000539992.1_Intron|RBM6_ENST00000441115.1_Intron|RBM6_ENST00000442092.1_Intron|RBM6_ENST00000443081.1_Missense_Mutation_p.T120M	NM_005777.2	NP_005768.1	P78332	RBM6_HUMAN	RNA binding motif protein 6	252					RNA processing (GO:0006396)	nucleus (GO:0005634)	DNA binding (GO:0003677)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|skin(4)|urinary_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;6.81e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0084)|Kidney(197;0.00977)		GACAGGGATACGCCACATTCA	0.438																																						ENST00000443081.1																			0				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|skin(4)|urinary_tract(1)	33						c.(358-360)aCg>aTg		RNA binding motif protein 6		C	,MET/THR	0,4406		0,0,2203	87	87	87		,755	3.3	0.1	3		87	1,8599	1.2+/-3.3	0,1,4299	no	intron,missense	RBM6	NM_001167582.1,NM_005777.2	,81	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,benign	,252/1124	50005613	1,13005	2203	4300	6503	SO:0001583	missense	10180				RNA processing	nucleus	DNA binding|nucleotide binding|RNA binding|zinc ion binding	g.chr3:50005613C>T	AF069517	CCDS2809.1, CCDS54586.1	3p21.3	2013-01-28			ENSG00000004534	ENSG00000004534		"RNA binding motif (RRM) containing", "G patch domain containing"	9903	protein-coding gene	gene with protein product		606886				10352938	Standard	NM_001167582		Approved	DEF-3, 3G2, NY-LU-12, g16, DEF3	uc003cyc.3	P78332	OTTHUMG00000156736	ENST00000266022.4:c.755C>T	3.37:g.50005613C>T	ENSP00000266022:p.Thr252Met					RBM6_ENST00000539992.1_Intron|RBM6_ENST00000442092.1_Intron|RBM6_ENST00000441115.1_Intron|RBM6_ENST00000266022.4_Missense_Mutation_p.T252M|RBM6_ENST00000422955.1_Intron	p.T120M			P78332	RBM6_HUMAN		BRCA - Breast invasive adenocarcinoma(193;6.81e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0084)|Kidney(197;0.00977)	3	1278	+			252					O60549|O75524|Q86SS3	Missense_Mutation	SNP	ENST00000266022.4	37	c.359C>T	CCDS2809.1	.	.	.	.	.	.	.	.	.	.	C	2.284	-0.364011	0.05103	0.0	1.16E-4	ENSG00000004534	ENST00000266022;ENST00000443081	T;T	0.33216	1.42;1.48	6.04	3.32	0.38043	.	0.667620	0.15749	N	0.246534	T	0.19287	0.0463	N	0.24115	0.695	0.09310	N	0.999992	B	0.19583	0.037	B	0.08055	0.003	T	0.20338	-1.0278	9	.	.	.	0.1238	10.3998	0.44222	0.0:0.7413:0.0:0.2587	.	252	P78332	RBM6_HUMAN	M	252;120	ENSP00000266022:T252M;ENSP00000396466:T120M	.	T	+	2	0	RBM6	49980617	0.000000	0.05858	0.082000	0.20525	0.832000	0.47134	0.107000	0.15375	0.452000	0.26830	-1.036000	0.02392	ACG		0.438	RBM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345528.4	NM_005777		19	43	0	0	0	1	0	19	43					T	50005613	C	T	50005613	3	4	277	1	0	0	0	0	1	0	0	0	13144	536	19	1	761	1	RBM6	3	50005613	Missense_Mutation	SNP	C	TCGA-J4-A83J-01A-11D-A364-08		50005613	148016817	13	12794											
FOXP1	27086	broad.mit.edu	37	chr3	71027139	71027139	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aagctctgtggagaagcctcCgatgcggacttggagagagt	10	8	15	8	2	1	2	0	0	1	2	2	7	2	4	2	3	3	1	2	3	2	1	rs138465768		TCGA-J4-A83J-01A-11D-A364-08	TCGA-J4-A83J-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26425bd7-6764-40d8-bfc9-fe8738359cc2	1da444be-497e-4cd9-96a8-1643c6f3d878	g.chr3:71027139C>T	ENST00000318789.4	-	15	1713	c.1188G>A	c.(1186-1188)tcG>tcA	p.S396S	FOXP1_ENST00000498215.1_Silent_p.S396S|FOXP1_ENST00000468577.1_Silent_p.S396S|FOXP1_ENST00000475937.1_Silent_p.S396S|FOXP1_ENST00000491238.1_Silent_p.S398S|FOXP1_ENST00000493089.1_Silent_p.S396S|FOXP1_ENST00000484350.1_Silent_p.S320S	NM_001244810.1|NM_001244813.1|NM_032682.5	NP_001231739.1|NP_001231742.1|NP_116071.2	Q9H334	FOXP1_HUMAN	forkhead box P1	396					negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	31		Lung NSC(201;4.62e-05)|Prostate(10;0.0181)|Hepatocellular(537;0.186)|Myeloproliferative disorder(1037;0.209)		BRCA - Breast invasive adenocarcinoma(55;1.17e-05)|Epithelial(33;1.39e-05)|LUSC - Lung squamous cell carcinoma(21;2.35e-05)|Lung(16;4.26e-05)		GAGAAGCCTCCGATGCGGACT	0.532			T	PAX5	ALL																																	ENST00000318789.4				Dom	yes		3	3p14.1	27086	T	forkhead box P1			L	PAX5		ALL		0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	31						c.(1186-1188)tcG>tcA		forkhead box P1		C		0,4406		0,0,2203	104	110	108		1188	-7.3	0.6	3	dbSNP_134	108	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	FOXP1	NM_032682.5		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		396/678	71027139	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	27086				cardiac muscle cell differentiation|embryo development|immunoglobulin V(D)J recombination|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of immunoglobulin production|positive regulation of mesenchymal cell proliferation|pre-B cell differentiation|regulation of sequence-specific DNA binding transcription factor activity|skeletal muscle tissue development|smooth muscle tissue development	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding	g.chr3:71027139C>T	AF146696	CCDS2914.1, CCDS33785.1, CCDS58837.1, CCDS58838.1, CCDS58839.1, CCDS74963.1, CCDS74964.1	3p14.1	2008-07-18			ENSG00000114861	ENSG00000114861		"Forkhead boxes"	3823	protein-coding gene	gene with protein product	"fork head-related protein like B", "glutamine-rich factor 1", "PAX5/FOXP1 fusion protein"	605515				8265594, 11751404	Standard	NM_032682		Approved	QRF1, 12CC4, HSPC215, hFKH1B	uc003doj.3	Q9H334	OTTHUMG00000158803	ENST00000318789.4:c.1188G>A	3.37:g.71027139C>T						FOXP1_ENST00000484350.1_Silent_p.S320S|FOXP1_ENST00000491238.1_Silent_p.S398S|FOXP1_ENST00000493089.1_Silent_p.S396S|FOXP1_ENST00000475937.1_Silent_p.S396S|FOXP1_ENST00000468577.1_Silent_p.S396S|FOXP1_ENST00000498215.1_Silent_p.S396S	p.S396S	NM_001244810.1|NM_001244813.1|NM_032682.5	NP_001231739.1|NP_001231742.1|NP_116071.2	Q9H334	FOXP1_HUMAN		BRCA - Breast invasive adenocarcinoma(55;1.17e-05)|Epithelial(33;1.39e-05)|LUSC - Lung squamous cell carcinoma(21;2.35e-05)|Lung(16;4.26e-05)	15	1713	-		Lung NSC(201;4.62e-05)|Prostate(10;0.0181)|Hepatocellular(537;0.186)|Myeloproliferative disorder(1037;0.209)	396					A3QVP8|B3KV70|G5E9V8|Q8NAN6|Q9BSG9|Q9H332|Q9H333|Q9P0R1	Silent	SNP	ENST00000318789.4	37	c.1188G>A	CCDS2914.1																																																																																				0.532	FOXP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000352250.1	NM_032682		34	64	0	0	0	1	0	34	64					T	71027139	C	T	71027139	2	4	277	1	0	0	0	0	0	0	0	1	6026	639	23	2		2	FOXP1	3	71027139	Silent	SNP	C	TCGA-J4-A83J-01A-11D-A364-08	21021526	71027139	126995291	14	12795											
TP63	8626	broad.mit.edu	37	chr3	189612175	189612175	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agcgtgttattgatgctgtgCgattcaccctccgccagacc	7	11	10	13	3	1	2	1	1	0	1	2	3	2	2	4	0	3	2	4	0	1	3			TCGA-J4-A83J-01A-11D-A364-08	TCGA-J4-A83J-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26425bd7-6764-40d8-bfc9-fe8738359cc2	1da444be-497e-4cd9-96a8-1643c6f3d878	g.chr3:189612175C>T	ENST00000264731.3	+	14	2016	c.1927C>T	c.(1927-1929)Cga>Tga	p.R643*	TP63_ENST00000440651.2_Nonsense_Mutation_p.R639*|TP63_ENST00000456148.1_Nonsense_Mutation_p.R545*|TP63_ENST00000382063.4_Nonsense_Mutation_p.R558*|TP63_ENST00000320472.5_3'UTR|TP63_ENST00000354600.5_Nonsense_Mutation_p.R549*|TP63_ENST00000449992.1_Nonsense_Mutation_p.R464*	NM_001114978.1|NM_003722.4	NP_001108450.1|NP_003713.3	Q9H3D4	P63_HUMAN	tumor protein p63	643	Transactivation inhibition.				apoptotic process (GO:0006915)|cell aging (GO:0007569)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|chromatin remodeling (GO:0006338)|cloacal septation (GO:0060197)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|ectoderm and mesoderm interaction (GO:0007499)|embryonic limb morphogenesis (GO:0030326)|epidermal cell division (GO:0010481)|epithelial cell development (GO:0002064)|establishment of planar polarity (GO:0001736)|establishment of skin barrier (GO:0061436)|female genitalia morphogenesis (GO:0048807)|hair follicle morphogenesis (GO:0031069)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|keratinocyte differentiation (GO:0030216)|keratinocyte proliferation (GO:0043616)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organismal aging (GO:0010259)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular senescence (GO:2000773)|negative regulation of keratinocyte differentiation (GO:0045617)|negative regulation of mesoderm development (GO:2000381)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|odontogenesis of dentin-containing tooth (GO:0042475)|polarized epithelial cell differentiation (GO:0030859)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell cycle G1/S phase transition (GO:1902808)|positive regulation of fibroblast apoptotic process (GO:2000271)|positive regulation of keratinocyte proliferation (GO:0010838)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|post-anal tail morphogenesis (GO:0036342)|prostatic bud formation (GO:0060513)|protein homotetramerization (GO:0051289)|proximal/distal pattern formation (GO:0009954)|regulation of epidermal cell division (GO:0010482)|regulation of neuron apoptotic process (GO:0043523)|response to gamma radiation (GO:0010332)|response to X-ray (GO:0010165)|skeletal system development (GO:0001501)|smooth muscle tissue development (GO:0048745)|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development (GO:0060529)|sympathetic nervous system development (GO:0048485)|urinary bladder development (GO:0060157)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|p53 binding (GO:0002039)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding transcription factor activity (GO:0000989)|transcription regulatory region DNA binding (GO:0044212)|WW domain binding (GO:0050699)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6)	61	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)		TGATGCTGTGCGATTCACCCT	0.552										HNSCC(45;0.13)																												ENST00000264731.3																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6)	61						c.(1927-1929)Cga>Tga		tumor protein p63							125	115	118					3																	189612175		2203	4300	6503	SO:0001587	stop_gained	8626				anti-apoptosis|cellular response to UV|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|Notch signaling pathway|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to gamma radiation|response to X-ray	chromatin|cytosol|dendrite|Golgi apparatus|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr3:189612175C>T	AB010153	CCDS3293.1, CCDS46976.1, CCDS46977.1, CCDS46978.1, CCDS46979.1, CCDS46980.1	3q27-q29	2014-09-17			ENSG00000073282	ENSG00000073282			15979	protein-coding gene	gene with protein product		603273	"tumor protein p73-like", "tumor protein p53-like", "tumor protein p53-competing protein"	TP73L, TP53L, TP53CP		9774969, 9662378, 11181441, 11181451	Standard	NM_003722		Approved	p51, SHFM4, EEC3, p63, p73L, OFC8, KET, p73H, NBP, p53CP	uc003fry.2	Q9H3D4	OTTHUMG00000156313	ENST00000264731.3:c.1927C>T	3.37:g.189612175C>T	ENSP00000264731:p.Arg643*	HNSCC(45;0.13)				TP63_ENST00000382063.4_Nonsense_Mutation_p.R558*|TP63_ENST00000456148.1_Nonsense_Mutation_p.R545*|TP63_ENST00000449992.1_Nonsense_Mutation_p.R464*|TP63_ENST00000440651.2_Nonsense_Mutation_p.R639*|TP63_ENST00000354600.5_Nonsense_Mutation_p.R549*|TP63_ENST00000320472.5_3'UTR	p.R643*	NM_001114978.1|NM_003722.4	NP_001108450.1|NP_003713.3	Q9H3D4	P63_HUMAN	Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)	14	2016	+	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		643			Transactivation inhibition.		O75080|O75195|O75922|O76078|Q6VEG2|Q6VEG3|Q6VEG4|Q6VFJ1|Q6VFJ2|Q6VFJ3|Q6VH20|Q7LDI3|Q7LDI4|Q7LDI5|Q96KR0|Q9H3D2|Q9H3D3|Q9H3P8|Q9NPH7|Q9P1B4|Q9P1B5|Q9P1B6|Q9P1B7|Q9UBV9|Q9UE10|Q9UP26|Q9UP27|Q9UP28|Q9UP74	Nonsense_Mutation	SNP	ENST00000264731.3	37	c.1927C>T	CCDS3293.1	.	.	.	.	.	.	.	.	.	.	C	36	5.821471	0.96989	.	.	ENSG00000073282	ENST00000264731;ENST00000440651;ENST00000382063;ENST00000354600;ENST00000449992;ENST00000456148	.	.	.	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-14.6124	19.2867	0.94077	0.0:1.0:0.0:0.0	.	.	.	.	X	643;639;558;549;464;545	.	.	R	+	1	2	TP63	191094869	1.000000	0.71417	1.000000	0.80357	0.530000	0.34684	7.290000	0.78711	2.793000	0.96121	0.655000	0.94253	CGA		0.552	TP63-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000343865.1	NM_003722		9	39	0	0	0	1	0	9	39					T	189612175	C	T	189612175	4	4	277	1	0	0	0	0	0	1	0	0	16389	760	27	1	2146	1	TP63	3	189612175	Nonsense_Mutation	SNP	C	TCGA-J4-A83J-01A-11D-A364-08	118585036	189612175	8410255	15	12796											
CORIN	10699	broad.mit.edu	37	chr4	47788869	47788869	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtatttgtaagaataacatcGgacccttggatttcaccatc	12	13	7	9	1	1	1	1	0	0	1	3	3	1	3	2	2	1	2	2	2	4	6	rs61764289		TCGA-J4-A83J-01A-11D-A364-08	TCGA-J4-A83J-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26425bd7-6764-40d8-bfc9-fe8738359cc2	1da444be-497e-4cd9-96a8-1643c6f3d878	g.chr4:47788869G>T	ENST00000273857.4	-	3	281	c.282C>A	c.(280-282)tcC>tcA	p.S94S	CORIN_ENST00000505909.1_Silent_p.S94S|CORIN_ENST00000502252.1_Intron|CORIN_ENST00000504584.1_Silent_p.S94S|CORIN_ENST00000508498.1_5'UTR	NM_006587.2	NP_006578.2	Q9Y5Q5	CORIN_HUMAN	corin, serine peptidase	94					female pregnancy (GO:0007565)|peptide hormone processing (GO:0016486)|proteolysis (GO:0006508)|regulation of blood pressure (GO:0008217)|regulation of renal sodium excretion (GO:0035813)|regulation of systemic arterial blood pressure by atrial natriuretic peptide (GO:0003050)	cell surface (GO:0009986)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)|serine-type exopeptidase activity (GO:0070008)			NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(18)|lung(39)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	79						GAATAACATCGGACCCTTGGA	0.408																																						ENST00000273857.4																			0				NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(18)|lung(39)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	79						c.(280-282)tcC>tcA		corin, serine peptidase							94	86	89					4																	47788869		2203	4300	6503	SO:0001819	synonymous_variant	10699				peptide hormone processing|regulation of systemic arterial blood pressure by atrial natriuretic peptide	integral to membrane|plasma membrane	scavenger receptor activity|serine-type endopeptidase activity|serine-type exopeptidase activity	g.chr4:47788869G>T	AF133845	CCDS3477.1, CCDS63958.1, CCDS75122.1	4p13-p12	2011-08-31	2005-08-17		ENSG00000145244	ENSG00000145244		"Serine peptidases / Transmembrane"	19012	protein-coding gene	gene with protein product		605236	"corin, serine protease"			10329693	Standard	NM_006587		Approved	PRSC, CRN, ATC2, Lrp4, TMPRSS10	uc003gxm.3	Q9Y5Q5	OTTHUMG00000099441	ENST00000273857.4:c.282C>A	4.37:g.47788869G>T						CORIN_ENST00000504584.1_Silent_p.S94S|CORIN_ENST00000508498.1_5'UTR|CORIN_ENST00000505909.1_Silent_p.S94S|CORIN_ENST00000502252.1_Intron	p.S94S	NM_006587.2	NP_006578.2	Q9Y5Q5	CORIN_HUMAN			3	281	-			94					B0ZBE3|Q2TBD2|Q4W5E5|Q4W5G6|Q9UHY2	Silent	SNP	ENST00000273857.4	37	c.282C>A	CCDS3477.1																																																																																				0.408	CORIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216906.2			3	35	1	0	1	1	1	3	35					T	47788869	G	T	47788869	2	4	277	1	0	0	0	0	0	0	0	1	3752	1103	39	5		5	CORIN	4	47788869	Silent	SNP	G	TCGA-J4-A83J-01A-11D-A364-08		47788869	143365407	16	12797											
UGT2B7	7364	broad.mit.edu	37	chr4	69962451	69962451	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatcccaacaactcatccgcTcttaaaattgaaatttatcc	14	12	3	12	1	2	1	1	1	1	0	5	2	5	1	3	0	2	1	3	0	6	4			TCGA-J4-A83J-01A-11D-A364-08	TCGA-J4-A83J-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26425bd7-6764-40d8-bfc9-fe8738359cc2	1da444be-497e-4cd9-96a8-1643c6f3d878	g.chr4:69962451T>C	ENST00000508661.1	+	1	240	c.213T>C	c.(211-213)gcT>gcC	p.A71A	UGT2B7_ENST00000305231.7_Silent_p.A71A|UGT2B7_ENST00000509763.1_Intron			P16662	UD2B7_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B7	71			A -> S (in dbSNP:rs12233719).		androgen metabolic process (GO:0008209)|cellular glucuronidation (GO:0052695)|lipid metabolic process (GO:0006629)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	glucuronosyltransferase activity (GO:0015020)			autonomic_ganglia(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38					Atorvastatin(DB01076)|Carbamazepine(DB00564)|Chenodeoxycholic acid(DB06777)|Codeine(DB00318)|Dabigatran etexilate(DB06695)|Dapagliflozin(DB06292)|Diclofenac(DB00586)|Epirubicin(DB00445)|Etodolac(DB00749)|Ezetimibe(DB00973)|Flunitrazepam(DB01544)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Ibuprofen(DB01050)|Indomethacin(DB00328)|Losartan(DB00678)|Lovastatin(DB00227)|Mitiglinide(DB01252)|Morphine(DB00295)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Naproxen(DB00788)|Oxazepam(DB00842)|Pitavastatin(DB08860)|Silodosin(DB06207)|Simvastatin(DB00641)|Suprofen(DB00870)|Tapentadol(DB06204)|Valproic Acid(DB00313)|Zidovudine(DB00495)	ACTCATCCGCTCTTAAAATTG	0.373																																						ENST00000305231.7																			0				autonomic_ganglia(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						c.(211-213)gcT>gcC		UDP glucuronosyltransferase 2 family, polypeptide B7							68	75	72					4																	69962451		2203	4299	6502	SO:0001819	synonymous_variant	7364				lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	g.chr4:69962451T>C	BC030974	CCDS3526.1	4q13	2008-02-05	2005-07-20		ENSG00000171234	ENSG00000171234		"UDP glucuronosyltransferases"	12554	protein-coding gene	gene with protein product		600068	"UDP glycosyltransferase 2 family, polypeptide B7"			2159463, 7835904	Standard	NM_001074		Approved	UGT2B9	uc003heg.4	P16662	OTTHUMG00000129404	ENST00000508661.1:c.213T>C	4.37:g.69962451T>C						UGT2B7_ENST00000509763.1_Intron|UGT2B7_ENST00000508661.1_Silent_p.A71A	p.A71A	NM_001074.2	NP_001065.2	P16662	UD2B7_HUMAN			1	259	+			71		A -> S (in dbSNP:rs12233719).			B2R810|Q6GTW0	Silent	SNP	ENST00000508661.1	37	c.213T>C																																																																																					0.373	UGT2B7-002	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000362103.1	NM_001074		23	61	0	0	0	1	0	23	61					C	69962451	T	C	69962451	2	2	277	1	0	0	0	0	0	0	0	1	16959	1538	54	4		4	UGT2B7	4	69962451	Silent	SNP	T	TCGA-J4-A83J-01A-11D-A364-08	22173582	69962451	121191825	17	12798											
UGT2B7	7364	broad.mit.edu	37	chr4	69962788	69962788	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gctacacttttgaaaagcatAgtggaggatttattttccct	11	15	8	7	0	0	1	0	1	0	0	1	3	1	3	1	2	2	2	1	2	5	8			TCGA-J4-A83J-01A-11D-A364-08	TCGA-J4-A83J-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26425bd7-6764-40d8-bfc9-fe8738359cc2	1da444be-497e-4cd9-96a8-1643c6f3d878	g.chr4:69962788A>G	ENST00000508661.1	+	1	577	c.550A>G	c.(550-552)Agt>Ggt	p.S184G	UGT2B7_ENST00000305231.7_Missense_Mutation_p.S184G|UGT2B7_ENST00000509763.1_Intron			P16662	UD2B7_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B7	184					androgen metabolic process (GO:0008209)|cellular glucuronidation (GO:0052695)|lipid metabolic process (GO:0006629)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	glucuronosyltransferase activity (GO:0015020)			autonomic_ganglia(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38					Atorvastatin(DB01076)|Carbamazepine(DB00564)|Chenodeoxycholic acid(DB06777)|Codeine(DB00318)|Dabigatran etexilate(DB06695)|Dapagliflozin(DB06292)|Diclofenac(DB00586)|Epirubicin(DB00445)|Etodolac(DB00749)|Ezetimibe(DB00973)|Flunitrazepam(DB01544)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Ibuprofen(DB01050)|Indomethacin(DB00328)|Losartan(DB00678)|Lovastatin(DB00227)|Mitiglinide(DB01252)|Morphine(DB00295)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Naproxen(DB00788)|Oxazepam(DB00842)|Pitavastatin(DB08860)|Silodosin(DB06207)|Simvastatin(DB00641)|Suprofen(DB00870)|Tapentadol(DB06204)|Valproic Acid(DB00313)|Zidovudine(DB00495)	TGAAAAGCATAGTGGAGGATT	0.393																																						ENST00000305231.7																			0				autonomic_ganglia(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						c.(550-552)Agt>Ggt		UDP glucuronosyltransferase 2 family, polypeptide B7							122	121	121					4																	69962788		2203	4298	6501	SO:0001583	missense	7364				lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	g.chr4:69962788A>G	BC030974	CCDS3526.1	4q13	2008-02-05	2005-07-20		ENSG00000171234	ENSG00000171234		"UDP glucuronosyltransferases"	12554	protein-coding gene	gene with protein product		600068	"UDP glycosyltransferase 2 family, polypeptide B7"			2159463, 7835904	Standard	NM_001074		Approved	UGT2B9	uc003heg.4	P16662	OTTHUMG00000129404	ENST00000508661.1:c.550A>G	4.37:g.69962788A>G	ENSP00000427659:p.Ser184Gly					UGT2B7_ENST00000509763.1_Intron|UGT2B7_ENST00000508661.1_Missense_Mutation_p.S184G	p.S184G	NM_001074.2	NP_001065.2	P16662	UD2B7_HUMAN			1	596	+			184					B2R810|Q6GTW0	Missense_Mutation	SNP	ENST00000508661.1	37	c.550A>G		.	.	.	.	.	.	.	.	.	.	A	0.354	-0.943159	0.02322	.	.	ENSG00000171234	ENST00000305231;ENST00000508661	T;T	0.61980	0.06;0.06	2.54	-5.08	0.02929	.	0.076940	0.53938	U	0.000060	T	0.35770	0.0943	L	0.35542	1.07	0.09310	N	1	B;B	0.10296	0.003;0.001	B;B	0.17722	0.019;0.012	T	0.16719	-1.0393	9	.	.	.	.	0.4631	0.00519	0.2314:0.1415:0.2281:0.3991	.	184;184	E9PBP8;P16662	.;UD2B7_HUMAN	G	184	ENSP00000304811:S184G;ENSP00000427659:S184G	.	S	+	1	0	UGT2B7	69997377	0.131000	0.22433	0.000000	0.03702	0.015000	0.08874	0.477000	0.22196	-1.411000	0.02032	-2.980000	0.00080	AGT		0.393	UGT2B7-002	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000362103.1	NM_001074		29	89	0	0	0	1	0	29	89					G	69962788	A	G	69962788	3	3	277	1	0	0	0	0	1	0	0	0	16959	420	15	4	552	4	UGT2B7	4	69962788	Missense_Mutation	SNP	A	TCGA-J4-A83J-01A-11D-A364-08	337	69962788	121191488	18	12799											
NDST3	9348	broad.mit.edu	37	chr4	119059263	119059263	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggcccctcaccattcgggcGtctaccctgtacatgttcag	6	11	9	15	2	3	0	2	0	1	0	4	0	3	0	4	2	2	2	4	2	2	4	rs150758016	byFrequency	TCGA-J4-A83J-01A-11D-A364-08	TCGA-J4-A83J-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26425bd7-6764-40d8-bfc9-fe8738359cc2	1da444be-497e-4cd9-96a8-1643c6f3d878	g.chr4:119059263G>A	ENST00000296499.5	+	5	1682	c.1279G>A	c.(1279-1281)Gtc>Atc	p.V427I	NDST3_ENST00000433996.2_Missense_Mutation_p.V346I	NM_004784.2	NP_004775.1	O95803	NDST3_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 3	427	Heparan sulfate N-deacetylase 3.				heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparin biosynthetic process (GO:0030210)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine N-sulfotransferase activity (GO:0015016)|deacetylase activity (GO:0019213)	p.V427I(3)		NS(1)|breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	54						CCATTCGGGCGTCTACCCTGT	0.468																																						ENST00000296499.5																			3	Substitution - Missense(3)	p.V427I(3)	lung(2)|large_intestine(1)	NS(1)|breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	54						c.(1279-1281)Gtc>Atc		N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 3		G	ILE/VAL	0,4406		0,0,2203	102	98	100		1279	5.4	1	4	dbSNP_134	100	2,8598	2.2+/-6.3	0,2,4298	no	missense	NDST3	NM_004784.2	29	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	probably-damaging	427/874	119059263	2,13004	2203	4300	6503	SO:0001583	missense	9348					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity	g.chr4:119059263G>A	AF074924	CCDS3708.1	4q26	2008-08-04			ENSG00000164100	ENSG00000164100		"Sulfotransferases, membrane-bound"	7682	protein-coding gene	gene with protein product		603950				9915799	Standard	NM_004784		Approved	HSST3	uc003ibx.3	O95803	OTTHUMG00000132959	ENST00000296499.5:c.1279G>A	4.37:g.119059263G>A	ENSP00000296499:p.Val427Ile					NDST3_ENST00000433996.2_Missense_Mutation_p.V346I	p.V427I	NM_004784.2	NP_004775.1	O95803	NDST3_HUMAN			5	1682	+			427			Heparan sulfate N-deacetylase 3.		B4DI67|Q4W5C1|Q4W5D0|Q6UWC5|Q9UP21	Missense_Mutation	SNP	ENST00000296499.5	37	c.1279G>A	CCDS3708.1	.	.	.	.	.	.	.	.	.	.	G	25.9	4.685475	0.88639	0.0	2.33E-4	ENSG00000164100	ENST00000296499;ENST00000433996	T;T	0.53857	0.88;0.6	5.39	5.39	0.77823	.	0.114616	0.64402	D	0.000018	T	0.70272	0.3205	M	0.68317	2.08	0.43724	D	0.996204	D;D	0.62365	0.987;0.991	P;P	0.62885	0.826;0.908	T	0.71567	-0.4554	10	0.54805	T	0.06	.	19.1484	0.93477	0.0:0.0:1.0:0.0	.	346;427	B4DI67;O95803	.;NDST3_HUMAN	I	427;346	ENSP00000296499:V427I;ENSP00000396625:V346I	ENSP00000296499:V427I	V	+	1	0	NDST3	119278711	1.000000	0.71417	0.986000	0.45419	0.630000	0.37929	9.778000	0.99011	2.519000	0.84933	0.557000	0.71058	GTC		0.468	NDST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256517.4	NM_004784		24	44	0	0	0	1	0	24	44					A	119059263	G	A	119059263	3	1	277	1	0	0	0	0	1	0	0	0	10257	1145	40	1	1293	1	NDST3	4	119059263	Missense_Mutation	SNP	G	TCGA-J4-A83J-01A-11D-A364-08	49096475	119059263	72095013	19	12800											
TMEM192	201931	broad.mit.edu	37	chr4	166021832	166021832	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agatgccttgttgatcggtaGatcaagttatagcctcggtt	9	14	11	7	2	1	3	1	1	0	2	3	3	1	3	2	2	2	4	2	2	4	6			TCGA-J4-A83J-01A-11D-A364-08	TCGA-J4-A83J-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26425bd7-6764-40d8-bfc9-fe8738359cc2	1da444be-497e-4cd9-96a8-1643c6f3d878	g.chr4:166021832G>T	ENST00000306480.6	-	3	532	c.387C>A	c.(385-387)atC>atA	p.I129I	TMEM192_ENST00000506087.1_Silent_p.I125I	NM_001100389.1	NP_001093859.1	Q8IY95	TM192_HUMAN	transmembrane protein 192	129						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|perinuclear region of cytoplasm (GO:0048471)	protein homodimerization activity (GO:0042803)			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|prostate(1)|skin(1)	7	all_hematologic(180;0.221)	Prostate(90;0.0959)|Melanoma(52;0.18)		GBM - Glioblastoma multiforme(119;0.0926)		TTGATCGGTAGATCAAGTTAT	0.413																																						ENST00000306480.5																			0				NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|prostate(1)|skin(1)	7						c.(385-387)atC>atA		transmembrane protein 192							97	96	96					4																	166021832		1889	4124	6013	SO:0001819	synonymous_variant	201931					Golgi apparatus|integral to membrane|late endosome|lysosomal membrane|nucleus		g.chr4:166021832G>T	BC036301	CCDS43279.1	4q32.3	2008-04-22			ENSG00000170088	ENSG00000170088			26775	protein-coding gene	gene with protein product						12477932	Standard	NM_001100389		Approved	FLJ38482	uc003iqz.4	Q8IY95	OTTHUMG00000161254	ENST00000306480.6:c.387C>A	4.37:g.166021832G>T						TMEM192_ENST00000506087.1_Silent_p.I125I	p.I129I	NM_001100389.1	NP_001093859.1	Q8IY95	TM192_HUMAN		GBM - Glioblastoma multiforme(119;0.0926)	3	532	-	all_hematologic(180;0.221)	Prostate(90;0.0959)|Melanoma(52;0.18)	129					Q7Z3A1|Q8N928	Silent	SNP	ENST00000306480.6	37	c.387C>A	CCDS43279.1																																																																																				0.413	TMEM192-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364310.3	NM_152681		14	45	1	0	4.3838e-07	1	4.77061e-07	14	45					T	166021832	G	T	166021832	2	4	277	1	0	0	0	0	0	0	0	1	16112	932	33	5		5	TMEM192	4	166021832	Silent	SNP	G	TCGA-J4-A83J-01A-11D-A364-08	46962569	166021832	25132444	20	12801											
CAMK4	814	broad.mit.edu	37	chr5	110819729	110819729	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tctgtttccaatcaggcagcGgtgaaggctgtggtggcctc	6	11	14	10	1	2	1	1	1	1	0	4	1	3	1	2	5	1	3	2	5	2	1			TCGA-J4-A83J-01A-11D-A364-08	TCGA-J4-A83J-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26425bd7-6764-40d8-bfc9-fe8738359cc2	1da444be-497e-4cd9-96a8-1643c6f3d878	g.chr5:110819729G>A	ENST00000282356.4	+	11	1385	c.987G>A	c.(985-987)gcG>gcA	p.A329A	CAMK4_ENST00000512890.1_3'UTR|CAMK4_ENST00000512453.1_Silent_p.A329A	NM_001744.4	NP_001735.1	Q16566	KCC4_HUMAN	calcium/calmodulin-dependent protein kinase IV	329	Calmodulin-binding. {ECO:0000255}.				activation of phospholipase C activity (GO:0007202)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|long-term memory (GO:0007616)|myeloid dendritic cell differentiation (GO:0043011)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nucleocytoplasmic transport (GO:0006913)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of osteoclast differentiation (GO:0045670)|regulation of T cell differentiation in thymus (GO:0033081)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(3)|prostate(2)|skin(1)|urinary_tract(1)	30		all_cancers(142;1.49e-05)|all_epithelial(76;1.82e-07)|Prostate(80;0.00964)|all_lung(232;0.0181)|Lung NSC(167;0.0298)|Ovarian(225;0.0446)|Colorectal(57;0.0478)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;3.79e-08)|Epithelial(69;5.29e-08)|all cancers(49;1.1e-05)|COAD - Colon adenocarcinoma(37;0.109)		ATCAGGCAGCGGTGAAGGCTG	0.547																																						ENST00000282356.4																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(3)|prostate(2)|skin(1)|urinary_tract(1)	30						c.(985-987)gcG>gcA		calcium/calmodulin-dependent protein kinase IV							33	35	34					5																	110819729		2202	4299	6501	SO:0001819	synonymous_variant	814				activation of phospholipase C activity|nerve growth factor receptor signaling pathway|synaptic transmission	cytosol|nucleoplasm	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity	g.chr5:110819729G>A	D30742	CCDS4103.1	5q22.1	2012-09-20			ENSG00000152495	ENSG00000152495	2.7.11.17		1464	protein-coding gene	gene with protein product	"brain Ca++-calmodulin-dependent protein kinase type IV", "calcium/calmodulin-dependent protein kinase type IV catalytic chain", "CAM kinase IV", "CAM kinase- GR"	114080				2536634	Standard	NM_001744		Approved	CaMK-GR	uc003kpf.3	Q16566	OTTHUMG00000128792	ENST00000282356.4:c.987G>A	5.37:g.110819729G>A						CAMK4_ENST00000512453.1_Silent_p.A329A|CAMK4_ENST00000512890.1_3'UTR	p.A329A	NM_001744.4	NP_001735.1	Q16566	KCC4_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;3.79e-08)|Epithelial(69;5.29e-08)|all cancers(49;1.1e-05)|COAD - Colon adenocarcinoma(37;0.109)	11	1385	+		all_cancers(142;1.49e-05)|all_epithelial(76;1.82e-07)|Prostate(80;0.00964)|all_lung(232;0.0181)|Lung NSC(167;0.0298)|Ovarian(225;0.0446)|Colorectal(57;0.0478)|Breast(839;0.244)	329			Calmodulin-binding (Potential).		D3DSZ7	Silent	SNP	ENST00000282356.4	37	c.987G>A	CCDS4103.1																																																																																				0.547	CAMK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250719.2	NM_001744		18	19	0	0	0	1	0	18	19					A	110819729	G	A	110819729	2	1	277	1	0	0	0	0	0	0	0	1	2605	1103	39	2		2	CAMK4	5	110819729	Silent	SNP	G	TCGA-J4-A83J-01A-11D-A364-08		110819729	70095531	21	12802											
DAAM2	23500	broad.mit.edu	37	chr6	39847179	39847179	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acccctaccccagcagtgacGtcccactcaggaaaaagcgt	12	5	8	16	2	1	1	1	1	0	0	2	2	2	2	5	1	3	1	5	1	3	1	rs564327973		TCGA-J4-A83J-01A-11D-A364-08	TCGA-J4-A83J-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26425bd7-6764-40d8-bfc9-fe8738359cc2	1da444be-497e-4cd9-96a8-1643c6f3d878	g.chr6:39847179G>A	ENST00000398904.2	+	14	1953	c.1771G>A	c.(1771-1773)Gtc>Atc	p.V591I	RP11-61I13.3_ENST00000607675.1_RNA|DAAM2_ENST00000538976.1_Missense_Mutation_p.V591I|DAAM2_ENST00000274867.4_Missense_Mutation_p.V591I			Q86T65	DAAM2_HUMAN	dishevelled associated activator of morphogenesis 2	591	FH1.|Pro-rich.				actin cytoskeleton organization (GO:0030036)|determination of left/right symmetry (GO:0007368)					NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(18)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)	49	Ovarian(28;0.0355)|Colorectal(47;0.196)					CAGCAGTGACGTCCCACTCAG	0.652													G|||	1	0.000199681	0	0	5008	,	,		13740	0		0	False		,,,				2504	0.001					ENST00000538976.1																			0				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(18)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)	49						c.(1771-1773)Gtc>Atc		dishevelled associated activator of morphogenesis 2							63	65	64					6																	39847179		1955	4125	6080	SO:0001583	missense	23500				actin cytoskeleton organization		actin binding|Rho GTPase binding	g.chr6:39847179G>A	AB002379	CCDS54999.1, CCDS56426.1	6p21.1	2008-07-30			ENSG00000146122	ENSG00000146122			18143	protein-coding gene	gene with protein product		606627				11779461, 12632087	Standard	NM_015345		Approved	KIAA0381	uc003oow.3	Q86T65	OTTHUMG00000014653	ENST00000398904.2:c.1771G>A	6.37:g.39847179G>A	ENSP00000381876:p.Val591Ile					DAAM2_ENST00000274867.4_Missense_Mutation_p.V591I|DAAM2_ENST00000398904.2_Missense_Mutation_p.V591I	p.V591I	NM_015345.3	NP_056160.2	Q86T65	DAAM2_HUMAN			14	1953	+	Ovarian(28;0.0355)|Colorectal(47;0.196)		591			FH1.|Pro-rich.		G5EA45|Q5T4T8|Q5T4U0|Q9NQI5|Q9Y4G0	Missense_Mutation	SNP	ENST00000398904.2	37	c.1771G>A	CCDS56426.1	.	.	.	.	.	.	.	.	.	.	G	8.227	0.803882	0.16467	.	.	ENSG00000146122	ENST00000274867;ENST00000398904;ENST00000538976	T;T;T	0.79749	-1.29;-1.29;-1.3	5.15	-10.3	0.00346	Actin-binding FH2 (1);	2.233800	0.01883	N	0.038000	T	0.27832	0.0685	N	0.08118	0	0.21105	N	0.999781	B;B	0.29988	0.031;0.264	B;B	0.16722	0.016;0.014	T	0.33548	-0.9864	10	0.21014	T	0.42	.	4.1081	0.10047	0.3169:0.2367:0.3678:0.0786	.	591;591	G5EA45;Q86T65	.;DAAM2_HUMAN	I	591	ENSP00000274867:V591I;ENSP00000381876:V591I;ENSP00000437808:V591I	ENSP00000274867:V591I	V	+	1	0	DAAM2	39955157	0.000000	0.05858	0.000000	0.03702	0.495000	0.33615	-0.016000	0.12613	-1.824000	0.01209	-0.172000	0.13284	GTC		0.652	DAAM2-003	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000280648.1			16	61	0	0	0	1	0	16	61					A	39847179	G	A	39847179	3	1	277	1	0	0	0	0	1	0	0	0	4216	1145	40	1	1821	1	DAAM2	6	39847179	Missense_Mutation	SNP	G	TCGA-J4-A83J-01A-11D-A364-08		39847179	131267888	22	12803											
FIG4	9896	broad.mit.edu	37	chr6	110081568	110081568	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtttatattccctgggacaTggccaagtataccaaaaggt	12	12	9	8	0	0	0	0	0	0	0	1	1	1	1	3	3	1	2	3	3	7	6			TCGA-J4-A83J-01A-11D-A364-08	TCGA-J4-A83J-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26425bd7-6764-40d8-bfc9-fe8738359cc2	1da444be-497e-4cd9-96a8-1643c6f3d878	g.chr6:110081568T>G	ENST00000230124.3	+	11	1377	c.1253T>G	c.(1252-1254)aTg>aGg	p.M418R	FIG4_ENST00000441478.2_Missense_Mutation_p.M141R	NM_014845.5	NP_055660.1	Q92562	FIG4_HUMAN	FIG4 phosphoinositide 5-phosphatase	418	SAC. {ECO:0000255|PROSITE- ProRule:PRU00183}.				cell death (GO:0008219)|locomotory behavior (GO:0007626)|myelin assembly (GO:0032288)|negative regulation of myelination (GO:0031642)|neuron development (GO:0048666)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phospholipid metabolic process (GO:0006644)|pigmentation (GO:0043473)|positive regulation of neuron projection development (GO:0010976)|small molecule metabolic process (GO:0044281)|vacuole organization (GO:0007033)	early endosome membrane (GO:0031901)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|late endosome membrane (GO:0031902)	phosphatidylinositol-3,5-bisphosphate 5-phosphatase activity (GO:0043813)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphatidylinositol-4-phosphate phosphatase activity (GO:0043812)			central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)	32		all_cancers(87;8.63e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000124)|all_lung(197;0.0187)|Colorectal(196;0.0492)|Lung SC(18;0.0548)		OV - Ovarian serous cystadenocarcinoma(136;0.0355)|Epithelial(106;0.038)|all cancers(137;0.0425)|BRCA - Breast invasive adenocarcinoma(108;0.079)		CCCTGGGACATGGCCAAGTAT	0.408																																						ENST00000230124.3																			0				central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)	32						c.(1252-1254)aTg>aGg		FIG4 homolog, SAC1 lipid phosphatase domain containing (S. cerevisiae)							186	149	162					6																	110081568		2203	4300	6503	SO:0001583	missense	9896				cell death	endosome membrane	protein binding	g.chr6:110081568T>G	D87464	CCDS5078.1	6q21	2014-09-17	2014-08-04	2007-07-30	ENSG00000112367	ENSG00000112367			16873	protein-coding gene	gene with protein product		609390	"KIAA0274", "FIG4 homolog (S. cerevisiae)", "FIG4 homolog, SAC1 lipid phosphatase domain containing (S. cerevisiae)"	KIAA0274		9039502, 11274189, 17572665	Standard	NM_014845		Approved	SAC3, hSac3, dJ249I4.1, ALS11, CMT4J	uc003ptt.2	Q92562	OTTHUMG00000015352	ENST00000230124.3:c.1253T>G	6.37:g.110081568T>G	ENSP00000230124:p.Met418Arg					FIG4_ENST00000441478.2_Missense_Mutation_p.M141R	p.M418R	NM_014845.5	NP_055660.1	Q92562	FIG4_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.0355)|Epithelial(106;0.038)|all cancers(137;0.0425)|BRCA - Breast invasive adenocarcinoma(108;0.079)	11	1377	+		all_cancers(87;8.63e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000124)|all_lung(197;0.0187)|Colorectal(196;0.0492)|Lung SC(18;0.0548)	418			SAC.		Q53H49|Q5TCS6	Missense_Mutation	SNP	ENST00000230124.3	37	c.1253T>G	CCDS5078.1	.	.	.	.	.	.	.	.	.	.	T	21.3	4.128044	0.77549	.	.	ENSG00000112367	ENST00000441478;ENST00000230124	T;T	0.58210	0.35;0.35	5.49	5.49	0.81192	Synaptojanin, N-terminal (2);	0.000000	0.85682	D	0.000000	T	0.74114	0.3674	M	0.91038	3.17	0.80722	D	1	D;D	0.89917	0.998;1.0	D;D	0.97110	0.988;1.0	T	0.81543	-0.0885	10	0.87932	D	0	-31.1626	15.5902	0.76521	0.0:0.0:0.0:1.0	.	141;418	F5H8L9;Q92562	.;FIG4_HUMAN	R	141;418	ENSP00000399443:M141R;ENSP00000230124:M418R	ENSP00000230124:M418R	M	+	2	0	FIG4	110188261	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.698000	0.84413	2.081000	0.62600	0.460000	0.39030	ATG		0.408	FIG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041768.1	NM_014845		4	62	0	0	0	1	0	4	62					G	110081568	T	G	110081568	3	3	277	1	0	0	0	0	1	0	0	0	5888	1464	51	5	1295	5	FIG4	6	110081568	Missense_Mutation	SNP	T	TCGA-J4-A83J-01A-11D-A364-08	70234389	110081568	61033499	23	12804											
EPB41L2	2037	broad.mit.edu	37	chr6	131277399	131277399	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	taagccatggcggtatgaacCgagaaatacccctgctctcc	11	8	9	13	2	1	2	0	1	1	1	2	3	1	2	5	2	4	2	5	2	5	3			TCGA-J4-A83J-01A-11D-A364-08	TCGA-J4-A83J-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26425bd7-6764-40d8-bfc9-fe8738359cc2	1da444be-497e-4cd9-96a8-1643c6f3d878	g.chr6:131277399C>T	ENST00000337057.3	-	2	408	c.227G>A	c.(226-228)cGg>cAg	p.R76Q	EPB41L2_ENST00000525193.1_Missense_Mutation_p.R76Q|EPB41L2_ENST00000528282.1_Missense_Mutation_p.R76Q|EPB41L2_ENST00000529208.1_Missense_Mutation_p.R76Q|EPB41L2_ENST00000392427.3_Missense_Mutation_p.R76Q|EPB41L2_ENST00000530481.1_Missense_Mutation_p.R76Q|EPB41L2_ENST00000368128.2_Missense_Mutation_p.R76Q|EPB41L2_ENST00000525271.1_Missense_Mutation_p.R76Q|EPB41L2_ENST00000445890.2_Missense_Mutation_p.R76Q|EPB41L2_ENST00000530148.1_Intron|EPB41L2_ENST00000527411.1_Missense_Mutation_p.R76Q|EPB41L2_ENST00000527659.1_Missense_Mutation_p.R76Q	NM_001431.3	NP_001422.1	O43491	E41L2_HUMAN	erythrocyte membrane protein band 4.1-like 2	76					cortical actin cytoskeleton organization (GO:0030866)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|spectrin (GO:0008091)	structural molecule activity (GO:0005198)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(23)|prostate(1)|skin(2)	44	Breast(56;0.0639)			OV - Ovarian serous cystadenocarcinoma(155;0.0271)|GBM - Glioblastoma multiforme(226;0.0355)		CGGTATGAACCGAGAAATACC	0.478																																						ENST00000337057.3																			0				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(23)|prostate(1)|skin(2)	44						c.(226-228)cGg>cAg		erythrocyte membrane protein band 4.1-like 2							153	150	151					6																	131277399		2203	4300	6503	SO:0001583	missense	2037				cortical actin cytoskeleton organization	extrinsic to membrane|plasma membrane|spectrin	actin binding|structural molecule activity	g.chr6:131277399C>T	AF027299	CCDS5141.1, CCDS47474.1, CCDS56450.1, CCDS59037.1	6q23	2008-08-29			ENSG00000079819	ENSG00000079819			3379	protein-coding gene	gene with protein product		603237				9598318, 9828140	Standard	NM_001431		Approved	4.1-G	uc003qch.2	O43491	OTTHUMG00000015560	ENST00000337057.3:c.227G>A	6.37:g.131277399C>T	ENSP00000338481:p.Arg76Gln					EPB41L2_ENST00000527411.1_Missense_Mutation_p.R76Q|EPB41L2_ENST00000529208.1_Missense_Mutation_p.R76Q|EPB41L2_ENST00000445890.2_Missense_Mutation_p.R76Q|EPB41L2_ENST00000525271.1_Missense_Mutation_p.R76Q|EPB41L2_ENST00000528282.1_Missense_Mutation_p.R76Q|EPB41L2_ENST00000525193.1_Missense_Mutation_p.R76Q|EPB41L2_ENST00000527659.1_Missense_Mutation_p.R76Q|EPB41L2_ENST00000530148.1_Intron|EPB41L2_ENST00000392427.3_Missense_Mutation_p.R76Q|EPB41L2_ENST00000368128.2_Missense_Mutation_p.R76Q|EPB41L2_ENST00000530481.1_Missense_Mutation_p.R76Q	p.R76Q	NM_001431.3	NP_001422.1	O43491	E41L2_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.0271)|GBM - Glioblastoma multiforme(226;0.0355)	2	408	-	Breast(56;0.0639)		76					B4DHI8|E9PPD9|Q5T4F0|Q68DV2	Missense_Mutation	SNP	ENST00000337057.3	37	c.227G>A	CCDS5141.1	.	.	.	.	.	.	.	.	.	.	C	26.3	4.726777	0.89390	.	.	ENSG00000079819	ENST00000528282;ENST00000530481;ENST00000445890;ENST00000337057;ENST00000392427;ENST00000425439;ENST00000368128;ENST00000527411;ENST00000525271;ENST00000525193;ENST00000527659;ENST00000529208;ENST00000529709;ENST00000532499;ENST00000526983;ENST00000531356;ENST00000530707	D;D;D;D;D;D;D;D;D;D;D;T;T;T;T;T	0.90563	-2.61;-2.56;-2.61;-2.69;-2.58;-2.69;-2.6;-2.58;-2.55;-2.56;-2.6;-0.45;-0.39;-0.32;-0.25;-0.21	6.17	6.17	0.99709	.	0.000000	0.53938	D	0.000049	D	0.92492	0.7616	L	0.36672	1.1	0.42849	D	0.99407	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.83275	0.992;0.992;0.992;0.996;0.992	D	0.92864	0.6308	10	0.87932	D	0	.	19.0599	0.93085	0.0:1.0:0.0:0.0	.	76;76;76;76;76	E9PHY5;B4DHI8;E9PPD9;O43491;Q68DV2	.;.;.;E41L2_HUMAN;.	Q	76	ENSP00000434308:R76Q;ENSP00000434576:R76Q;ENSP00000402041:R76Q;ENSP00000338481:R76Q;ENSP00000376222:R76Q;ENSP00000357110:R76Q;ENSP00000436348:R76Q;ENSP00000432803:R76Q;ENSP00000431988:R76Q;ENSP00000431647:R76Q;ENSP00000436641:R76Q;ENSP00000436871:R76Q;ENSP00000432013:R76Q;ENSP00000432329:R76Q;ENSP00000436145:R76Q;ENSP00000435556:R76Q	ENSP00000338481:R76Q	R	-	2	0	EPB41L2	131319092	0.998000	0.40836	0.996000	0.52242	0.579000	0.36224	4.962000	0.63687	2.941000	0.99782	0.655000	0.94253	CGG		0.478	EPB41L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042204.3			9	95	0	0	0	1	0	9	95					T	131277399	C	T	131277399	3	4	277	1	0	0	0	0	1	0	0	0	5153	652	23	2	2862	2	EPB41L2	6	131277399	Missense_Mutation	SNP	C	TCGA-J4-A83J-01A-11D-A364-08	21195831	131277399	39837668	24	12805											
UTRN	7402	broad.mit.edu	37	chr6	144783990	144783990	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gaggaaattgctctcacactCagagcttttgaggtaaatcc	12	11	9	9	0	2	2	2	1	1	1	4	4	3	3	1	2	2	3	1	2	3	4			TCGA-J4-A83J-01A-11D-A364-08	TCGA-J4-A83J-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26425bd7-6764-40d8-bfc9-fe8738359cc2	1da444be-497e-4cd9-96a8-1643c6f3d878	g.chr6:144783990C>T	ENST00000367545.3	+	22	3054	c.3054C>T	c.(3052-3054)ctC>ctT	p.L1018L		NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	1018					aging (GO:0007568)|muscle cell differentiation (GO:0042692)|muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|neuron projection morphogenesis (GO:0048812)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of sodium ion transmembrane transporter activity (GO:2000649)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dystrophin-associated glycoprotein complex (GO:0016010)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane (GO:0016020)|membrane raft (GO:0045121)|myofibril (GO:0030016)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|protein kinase binding (GO:0019901)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		CTCTCACACTCAGAGCTTTTG	0.338																																						ENST00000367545.3																			0				NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148						c.(3052-3054)ctC>ctT		utrophin							77	87	84					6																	144783990		2203	4300	6503	SO:0001819	synonymous_variant	7402				muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding	g.chr6:144783990C>T	AK023675	CCDS34547.1	6q24	2008-02-05	2006-12-13		ENSG00000152818	ENSG00000152818			12635	protein-coding gene	gene with protein product		128240	"utrophin (homologous to dystrophin)"	DMDL		1426262	Standard	NM_007124		Approved	DRP, DRP1	uc003qkt.3	P46939	OTTHUMG00000015746	ENST00000367545.3:c.3054C>T	6.37:g.144783990C>T							p.L1018L	NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)	22	3054	+		Ovarian(120;0.218)	1018					Q5SYY1|Q5SZ57|Q9UJ40	Silent	SNP	ENST00000367545.3	37	c.3054C>T	CCDS34547.1																																																																																				0.338	UTRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042551.1			12	54	0	0	0	1	0	12	54					T	144783990	C	T	144783990	2	4	277	1	0	0	0	0	0	0	0	1	17100	813	29	3		3	UTRN	6	144783990	Silent	SNP	C	TCGA-J4-A83J-01A-11D-A364-08	13506591	144783990	26331077	25	12806											
PDGFA	5154	broad.mit.edu	37	chr7	540867	540867	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tggcttcttcctgacgtattCcaccttggccacctgccaga	6	12	8	15	1	1	2	0	1	1	1	3	2	3	2	6	2	1	2	6	2	1	5			TCGA-J4-A83J-01A-11D-A364-08	TCGA-J4-A83J-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26425bd7-6764-40d8-bfc9-fe8738359cc2	1da444be-497e-4cd9-96a8-1643c6f3d878	g.chr7:540867C>T	ENST00000354513.5	-	5	858	c.466G>A	c.(466-468)Gaa>Aaa	p.E156K	PDGFA_ENST00000402802.3_Missense_Mutation_p.E156K	NM_002607.5	NP_002598.4	P04085	PDGFA_HUMAN	platelet-derived growth factor alpha polypeptide	156					actin cytoskeleton organization (GO:0030036)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cell activation (GO:0001775)|cell projection assembly (GO:0030031)|cell-cell signaling (GO:0007267)|embryo development (GO:0009790)|epidermal growth factor receptor signaling pathway (GO:0007173)|extracellular matrix organization (GO:0030198)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hair follicle development (GO:0001942)|innate immune response (GO:0045087)|inner ear development (GO:0048839)|lung alveolus development (GO:0048286)|negative chemotaxis (GO:0050919)|negative regulation of phosphatidylinositol biosynthetic process (GO:0010512)|negative regulation of platelet activation (GO:0010544)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of cell division (GO:0051781)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway (GO:0035793)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein autophosphorylation (GO:0031954)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of branching involved in salivary gland morphogenesis by epithelial-mesenchymal signaling (GO:0060683)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|regulation of smooth muscle cell migration (GO:0014910)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to hypoxia (GO:0001666)|response to inorganic substance (GO:0010035)|response to retinoic acid (GO:0032526)|response to wounding (GO:0009611)|skin development (GO:0043588)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	cell surface (GO:0009986)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi membrane (GO:0000139)|microvillus (GO:0005902)|platelet alpha granule lumen (GO:0031093)	collagen binding (GO:0005518)|growth factor activity (GO:0008083)|platelet-derived growth factor binding (GO:0048407)|platelet-derived growth factor receptor binding (GO:0005161)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	16		Ovarian(82;0.0112)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|Epithelial(4;1.1e-17)|OV - Ovarian serous cystadenocarcinoma(56;1.7e-17)|all cancers(6;4.89e-15)		CTGACGTATTCCACCTTGGCC	0.567																																						ENST00000402802.3																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	16						c.(466-468)Gaa>Aaa		platelet-derived growth factor alpha polypeptide							257	250	252					7																	540867		2203	4296	6499	SO:0001583	missense	0				actin cytoskeleton organization|angiogenesis|cell projection assembly|embryo development|hair follicle development|lung alveolus development|negative chemotaxis|negative regulation of phosphatidylinositol biosynthetic process|negative regulation of platelet activation|organ morphogenesis|platelet activation|platelet degranulation|positive regulation of cell division|positive regulation of DNA replication|positive regulation of ERK1 and ERK2 cascade|positive regulation of fibroblast proliferation|positive regulation of MAP kinase activity|positive regulation of mesenchymal cell proliferation|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein autophosphorylation|positive regulation of protein kinase B signaling cascade|regulation of actin cytoskeleton organization|regulation of branching involved in salivary gland morphogenesis by epithelial-mesenchymal signaling|regulation of peptidyl-tyrosine phosphorylation|regulation of smooth muscle cell migration|skin development	cell surface|endoplasmic reticulum lumen|extracellular space|Golgi membrane|microvillus|platelet alpha granule lumen	collagen binding|eukaryotic cell surface binding|growth factor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein heterodimerization activity|protein homodimerization activity	g.chr7:540867C>T		CCDS34578.1, CCDS47524.1	7p22	2008-07-18			ENSG00000197461	ENSG00000197461			8799	protein-coding gene	gene with protein product	"PDGF A-chain", "platelet-derived growth factor alpha chain"	173430				1505216, 2536956	Standard	NM_002607		Approved	PDGF1, PDGF-A	uc003sir.3	P04085	OTTHUMG00000151412	ENST00000354513.5:c.466G>A	7.37:g.540867C>T	ENSP00000346508:p.Glu156Lys					PDGFA_ENST00000354513.5_Missense_Mutation_p.E156K	p.E156K	NM_033023.4	NP_148983.1	P04085	PDGFA_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|Epithelial(4;1.1e-17)|OV - Ovarian serous cystadenocarcinoma(56;1.7e-17)|all cancers(6;4.89e-15)	5	873	-		Ovarian(82;0.0112)	156					B5BU73	Missense_Mutation	SNP	ENST00000354513.5	37	c.466G>A	CCDS34578.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.0|21.0	4.088931|4.088931	0.76756|0.76756	.|.	.|.	ENSG00000197461|ENSG00000197461	ENST00000402802;ENST00000354513|ENST00000400761	T;T|.	0.47177|.	0.85;0.86|.	4.84|4.84	4.84|4.84	0.62591|0.62591	Platelet-derived growth factor (PDGF) (3);|.	0.052661|.	0.64402|.	D|.	0.000001|.	T|T	0.68787|0.68787	0.3039|0.3039	L|L	0.49513|0.49513	1.565|1.565	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	1.0;0.999;0.999|.	D;D;D|.	0.87578|.	0.998;0.99;0.998|.	T|T	0.66893|0.66893	-0.5808|-0.5808	10|5	0.30078|.	T|.	0.28|.	-18.5081|-18.5081	17.546|17.546	0.87861|0.87861	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	170;156;156|.	Q32M96;P04085-2;P04085|.	.;.;PDGFA_HUMAN|.	K|E	156|162	ENSP00000383889:E156K;ENSP00000346508:E156K|.	ENSP00000346508:E156K|.	E|G	-|-	1|2	0|0	PDGFA|PDGFA	507393|507393	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.782000|0.782000	0.44232|0.44232	6.602000|6.602000	0.74141|0.74141	2.211000|2.211000	0.71520|0.71520	0.655000|0.655000	0.94253|0.94253	GAA|GGA		0.567	PDGFA-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000322534.1			4	182	0	0	0	1	0	4	182					T	540867	C	T	540867	3	4	277	1	0	0	0	0	1	0	0	0	11657	864	30	3	192	3	PDGFA	7	540867	Missense_Mutation	SNP	C	TCGA-J4-A83J-01A-11D-A364-08		540867	158597796	26	12807											
MLL5	55904	broad.mit.edu	37	chr7	104750743	104750743	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaggactgcctcaacttcaGtggaacaagtcagagaaagg	16	6	11	8	0	3	1	3	0	0	1	3	4	3	3	1	3	3	0	1	3	5	1			TCGA-J4-A83J-01A-11D-A364-08	TCGA-J4-A83J-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26425bd7-6764-40d8-bfc9-fe8738359cc2	1da444be-497e-4cd9-96a8-1643c6f3d878	g.chr7:104750743G>T	ENST00000311117.3	+	24	4317	c.3772G>T	c.(3772-3774)Gtg>Ttg	p.V1258L	KMT2E_ENST00000334914.7_Missense_Mutation_p.V313L|KMT2E_ENST00000257745.4_Missense_Mutation_p.V1258L|KMT2E_ENST00000334877.4_Missense_Mutation_p.V1258L|SRPK2_ENST00000493638.1_5'Flank	NM_182931.2	NP_891847.1	Q8IZD2	KMT2E_HUMAN	lysine (K)-specific methyltransferase 2E	1258					cell cycle arrest (GO:0007050)|cellular response to retinoic acid (GO:0071300)|DNA methylation (GO:0006306)|erythrocyte differentiation (GO:0030218)|histone H3-K4 methylation (GO:0051568)|neutrophil activation (GO:0042119)|neutrophil mediated immunity (GO:0002446)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of transcription, DNA-templated (GO:0045893)|retinoic acid receptor signaling pathway (GO:0048384)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|MLL5-L complex (GO:0070688)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)										CTCAACTTCAGTGGAACAAGT	0.378																																						ENST00000334877.4																			0											c.(3772-3774)Gtg>Ttg		lysine (K)-specific methyltransferase 2E							117	119	118					7																	104750743		2203	4300	6503	SO:0001583	missense	55904							g.chr7:104750743G>T	AF067804	CCDS34723.1	7q22.1	2013-05-09	2013-05-09	2013-05-09	ENSG00000005483	ENSG00000005483		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	18541	protein-coding gene	gene with protein product		608444	"myeloid/lymphoid or mixed-lineage leukemia 5 (trithorax homolog, Drosophila)"	MLL5		9218106, 7672722	Standard	XM_005250493		Approved	HDCMC04P		Q8IZD2	OTTHUMG00000157403	ENST00000311117.3:c.3772G>T	7.37:g.104750743G>T	ENSP00000312379:p.Val1258Leu					KMT2E_ENST00000257745.4_Missense_Mutation_p.V1258L|KMT2E_ENST00000311117.3_Missense_Mutation_p.V1258L|KMT2E_ENST00000334914.7_Missense_Mutation_p.V313L	p.V1258L							24	4306	+								B6ZDE4|B6ZDM3|M4K8J3|Q6P5Y2|Q6PKG4|Q6T316|Q86TI3|Q86W12|Q86WG0|Q86WL2|Q8IV78|Q8IWR5|Q8NFF8|Q9NWE7	Missense_Mutation	SNP	ENST00000311117.3	37	c.3772G>T	CCDS34723.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	27.3|27.3	4.820609|4.820609	0.90873|0.90873	.|.	.|.	ENSG00000005483|ENSG00000005483	ENST00000473063|ENST00000311117;ENST00000393656;ENST00000334877;ENST00000351043;ENST00000257745;ENST00000334914	.|D;D;D;T	.|0.97066	.|-4.23;-3.61;-4.23;-0.15	5.27|5.27	5.27|5.27	0.74061|0.74061	.|.	.|0.000000	.|0.64402	.|D	.|0.000002	D|D	0.97331|0.97331	0.9127|0.9127	L|L	0.32530|0.32530	0.975|0.975	0.52501|0.52501	D|D	0.999957|0.999957	.|D	.|0.64830	.|0.994	.|D	.|0.72625	.|0.978	D|D	0.98501|0.98501	1.0614|1.0614	6|10	0.72032|0.66056	D|D	0.01|0.02	.|.	18.8917|18.8917	0.92407|0.92407	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|1258	.|Q8IZD2	.|MLL5_HUMAN	I|L	69|1258;1258;1258;1178;1258;313	.|ENSP00000312379:V1258L;ENSP00000335599:V1258L;ENSP00000257745:V1258L;ENSP00000333986:V313L	ENSP00000417156:S69I|ENSP00000257745:V1258L	S|V	+|+	2|1	0|0	MLL5|MLL5	104537979|104537979	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.966000|0.966000	0.64601|0.64601	8.648000|8.648000	0.91062|0.91062	2.468000|2.468000	0.83385|0.83385	0.561000|0.561000	0.74099|0.74099	AGT|GTG		0.378	KMT2E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348697.1			8	61	1	0	0.00448238	1	0.00460689	8	61					T	104750743	G	T	104750743	3	4	277	1	0	0	0	0	1	0	0	0	9624	1029	36	5	3858	5	MLL5	7	104750743	Missense_Mutation	SNP	G	TCGA-J4-A83J-01A-11D-A364-08	104209876	104750743	54387920	27	12808											
MET	4233	broad.mit.edu	37	chr7	116399499	116399499	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctgaattcagttagtgtcccGagaatggtcataaatgtgca	12	12	10	7	1	2	2	2	1	0	1	3	3	3	2	1	1	1	2	1	1	5	3	rs141733128	byFrequency	TCGA-J4-A83J-01A-11D-A364-08	TCGA-J4-A83J-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26425bd7-6764-40d8-bfc9-fe8738359cc2	1da444be-497e-4cd9-96a8-1643c6f3d878	g.chr7:116399499G>A	ENST00000318493.6	+	10	2560	c.2373G>A	c.(2371-2373)ccG>ccA	p.P791P	MET_ENST00000436117.2_Intron|MET_ENST00000397752.3_Silent_p.P773P			Q9NWH9	SLTM_HUMAN	MET proto-oncogene, receptor tyrosine kinase	0	Arg/Glu-rich.				apoptotic process (GO:0006915)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3)	233	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)			TTAGTGTCCCGAGAATGGTCA	0.433			Mis		"papillary renal, head-neck squamous cell "	papillary renal			Hereditary Papillary Renal Carcinoma (type 1)				G|||	3	0.000599042	0.0015	0	5008	,	,		19128	0		0.001	False		,,,				2504	0					ENST00000397752.3				Dom	yes	Familial Papillary Renal Cancer	7	7q31	4233	Mis	met proto-oncogene (hepatocyte growth factor receptor)			E		papillary renal	"papillary renal, head-neck squamous cell "		0				NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3)	233						c.(2317-2319)ccG>ccA		met proto-oncogene							120	117	118					7																	116399499		1914	4121	6035	SO:0001819	synonymous_variant	0	Hereditary Papillary Renal Carcinoma (type 1)	Familial Cancer Database	HPRC, Hereditary Papillary Renal Cell Cancer	axon guidance|cell proliferation	basal plasma membrane|integral to plasma membrane	ATP binding|hepatocyte growth factor receptor activity|protein binding	g.chr7:116399499G>A	M35073	CCDS43636.1, CCDS47689.1	7q31	2014-09-17	2014-06-26		ENSG00000105976	ENSG00000105976	2.7.10.1		7029	protein-coding gene	gene with protein product	"hepatocyte growth factor receptor"	164860	"met proto-oncogene"			1846706, 1611909	Standard	NM_001127500		Approved	HGFR, RCCP2	uc010lkh.3	P08581	OTTHUMG00000023299	ENST00000318493.6:c.2373G>A	7.37:g.116399499G>A						MET_ENST00000436117.2_Intron|MET_ENST00000318493.6_Silent_p.P791P	p.P773P	NM_000245.2|NM_001127500.1	NP_000236.2|NP_001120972.1	P08581	MET_HUMAN	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)		10	2519	+	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	773		P -> L (in gastric cancer).	IPT/TIG 3.		A8K5V8|B2RTX3|Q2VPK7|Q52MB3|Q658J7|Q6ZNF2|Q86TK6|Q9H7C3|Q9H8U9	Silent	SNP	ENST00000318493.6	37	c.2319G>A	CCDS47689.1																																																																																				0.433	MET-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059620.3			5	14	0	0	0	1	0	5	14					A	116399499	G	A	116399499	2	1	277	1	0	0	0	0	0	0	0	1	9485	1045	37	2		2	MET	7	116399499	Silent	SNP	G	TCGA-J4-A83J-01A-11D-A364-08	11648756	116399499	42739164	28	12809											
MFHAS1	9258	broad.mit.edu	37	chr8	8748174	8748174	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	caaccgaatgacatgagctgGcaagagcccatgcaacagaa	16	4	10	11	1	0	4	0	2	0	2	0	5	0	4	2	1	5	3	2	1	5	0			TCGA-J4-A83J-01A-11D-A364-08	TCGA-J4-A83J-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26425bd7-6764-40d8-bfc9-fe8738359cc2	1da444be-497e-4cd9-96a8-1643c6f3d878	g.chr8:8748174G>A	ENST00000276282.6	-	1	2981	c.2395C>T	c.(2395-2397)Cca>Tca	p.P799S		NM_004225.2	NP_004216.2	Q9Y4C4	MFHA1_HUMAN	malignant fibrous histiocytoma amplified sequence 1	799										endometrium(1)|kidney(3)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|stomach(1)	21		Hepatocellular(245;0.217)		COAD - Colon adenocarcinoma(149;0.124)		ACATGAGCTGGCAAGAGCCCA	0.602																																					Melanoma(103;1201 2045 17515 28966)	ENST00000276282.6																			0				endometrium(1)|kidney(3)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|stomach(1)	21						c.(2395-2397)Cca>Tca		malignant fibrous histiocytoma amplified sequence 1							65	65	65					8																	8748174		2203	4300	6503	SO:0001583	missense	9258							g.chr8:8748174G>A	AB016816	CCDS34844.1	8p23.1	2014-03-07			ENSG00000147324	ENSG00000147324			16982	protein-coding gene	gene with protein product	"leucine rich repeat containing 65", "malignant fibrous histiocytoma-amplified sequences with leucine-rich tandem repeats 1"	605352				9973190	Standard	NM_004225		Approved	MASL1, LRRC65	uc003wsj.1	Q9Y4C4	OTTHUMG00000163676	ENST00000276282.6:c.2395C>T	8.37:g.8748174G>A	ENSP00000276282:p.Pro799Ser						p.P799S	NM_004225.2	NP_004216.2	Q9Y4C4	MFHA1_HUMAN		COAD - Colon adenocarcinoma(149;0.124)	1	2981	-		Hepatocellular(245;0.217)	799					Q96CI0	Missense_Mutation	SNP	ENST00000276282.6	37	c.2395C>T	CCDS34844.1	.	.	.	.	.	.	.	.	.	.	G	17.19	3.326664	0.60743	.	.	ENSG00000147324	ENST00000276282	T	0.32272	1.46	5.14	5.14	0.70334	.	0.000000	0.85682	D	0.000000	T	0.46521	0.1397	L	0.43152	1.355	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.11690	-1.0577	10	0.15066	T	0.55	.	17.7729	0.88499	0.0:0.0:1.0:0.0	.	799	Q9Y4C4	MFHA1_HUMAN	S	799	ENSP00000276282:P799S	ENSP00000276282:P799S	P	-	1	0	MFHAS1	8785584	1.000000	0.71417	1.000000	0.80357	0.757000	0.42996	9.225000	0.95219	2.679000	0.91253	0.655000	0.94253	CCA		0.602	MFHAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374724.2	NM_004225		19	39	0	0	0	1	0	19	39					A	8748174	G	A	8748174	3	1	277	1	0	0	0	0	1	0	0	0	9521	1203	42	3	775	3	MFHAS1	8	8748174	Missense_Mutation	SNP	G	TCGA-J4-A83J-01A-11D-A364-08		8748174	137615848	29	12810											
CDCA2	157313	broad.mit.edu	37	chr8	25364244	25364244	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atataatgaacattaatgaaAataaaaatattccaaaagca	24	10	3	4	0	0	2	0	2	0	0	1	2	1	2	1	0	2	1	1	0	12	6			TCGA-J4-A83J-01A-11D-A364-08	TCGA-J4-A83J-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26425bd7-6764-40d8-bfc9-fe8738359cc2	1da444be-497e-4cd9-96a8-1643c6f3d878	g.chr8:25364244A>C	ENST00000330560.3	+	15	2539	c.2062A>C	c.(2062-2064)Aat>Cat	p.N688H	CDCA2_ENST00000380665.3_Missense_Mutation_p.N673H|CDCA2_ENST00000521098.2_3'UTR	NM_152562.2	NP_689775.2	Q69YH5	CDCA2_HUMAN	cell division cycle associated 2	688					mitotic nuclear division (GO:0007067)|positive regulation of protein dephosphorylation (GO:0035307)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(3)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(7)|lung(10)|ovary(1)|prostate(3)	35		all_cancers(63;0.0378)|Ovarian(32;0.000878)|all_epithelial(46;0.0162)|Breast(100;0.0164)|Prostate(55;0.191)		UCEC - Uterine corpus endometrioid carcinoma (27;0.022)|Epithelial(17;1.37e-11)|Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0443)		CATTAATGAAAATAAAAATAT	0.328																																						ENST00000330560.3																			0				breast(3)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(7)|lung(10)|ovary(1)|prostate(3)	35						c.(2062-2064)Aat>Cat		cell division cycle associated 2							33	36	35					8																	25364244		2195	4296	6491	SO:0001583	missense	157313				cell division|mitosis	cytoplasm|nucleus		g.chr8:25364244A>C	BG354575	CCDS6049.1	8p21.2	2014-06-12			ENSG00000184661	ENSG00000184661			14623	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 81"					12188893, 16492807	Standard	NM_152562		Approved	Repo-Man, PPP1R81	uc003xep.1	Q69YH5	OTTHUMG00000099429	ENST00000330560.3:c.2062A>C	8.37:g.25364244A>C	ENSP00000328228:p.Asn688His					CDCA2_ENST00000380665.3_Missense_Mutation_p.N673H|CDCA2_ENST00000521098.2_3'UTR	p.N688H	NM_152562.2	NP_689775.2	Q69YH5	CDCA2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.022)|Epithelial(17;1.37e-11)|Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0443)	15	2539	+		all_cancers(63;0.0378)|Ovarian(32;0.000878)|all_epithelial(46;0.0162)|Breast(100;0.0164)|Prostate(55;0.191)	688					Q3SX74|Q4G0W0|Q5RKN0|Q69YI4|Q6P464|Q8N7C1	Missense_Mutation	SNP	ENST00000330560.3	37	c.2062A>C	CCDS6049.1	.	.	.	.	.	.	.	.	.	.	A	7.974	0.749785	0.15778	.	.	ENSG00000184661	ENST00000330560;ENST00000380665;ENST00000434814	T;T	0.45668	0.89;0.89	5.18	2.84	0.33178	.	0.949616	0.08803	N	0.891411	T	0.28830	0.0715	L	0.27053	0.805	0.09310	N	1	B;B	0.20261	0.043;0.043	B;B	0.21546	0.035;0.035	T	0.28235	-1.0050	10	0.36615	T	0.2	-3.9463	4.692	0.12785	0.6864:0.2119:0.1018:0.0	.	673;688	E9PEI0;Q69YH5	.;CDCA2_HUMAN	H	688;673;87	ENSP00000328228:N688H;ENSP00000370040:N673H	ENSP00000328228:N688H	N	+	1	0	CDCA2	25420161	0.002000	0.14202	0.000000	0.03702	0.012000	0.07955	1.205000	0.32308	0.457000	0.26962	0.528000	0.53228	AAT		0.328	CDCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216891.3	NM_152562		15	50	0	0	0	1	0	15	50					C	25364244	A	C	25364244	3	2	277	1	0	0	0	0	1	0	0	0	3086	14	1	5	2116	5	CDCA2	8	25364244	Missense_Mutation	SNP	A	TCGA-J4-A83J-01A-11D-A364-08	16616070	25364244	120999778	30	12811											
TEX15	56154	broad.mit.edu	37	chr8	30694898	30694898	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	agtattgggattcaatgtatCcttcatgtatttgtcctctg	8	18	8	7	0	3	0	2	0	1	0	5	1	5	1	2	1	0	3	2	1	4	7			TCGA-J4-A83J-01A-11D-A364-08	TCGA-J4-A83J-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26425bd7-6764-40d8-bfc9-fe8738359cc2	1da444be-497e-4cd9-96a8-1643c6f3d878	g.chr8:30694898C>T	ENST00000256246.2	-	3	7827	c.7753G>A	c.(7753-7755)Gat>Aat	p.D2585N		NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	2585					fertilization (GO:0009566)|homeostasis of number of cells within a tissue (GO:0048873)|male genitalia development (GO:0030539)|male meiosis (GO:0007140)|protein localization to chromosome (GO:0034502)|regulation of double-strand break repair via homologous recombination (GO:0010569)|regulation of protein localization (GO:0032880)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)					NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		TTCAATGTATCCTTCATGTAT	0.403																																						ENST00000256246.2																			0				NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138						c.(7753-7755)Gat>Aat		testis expressed 15							94	92	93					8																	30694898		2203	4300	6503	SO:0001583	missense	56154							g.chr8:30694898C>T	AF285605	CCDS6080.1	8p22	2009-03-25	2007-03-13			ENSG00000133863			11738	protein-coding gene	gene with protein product	"cancer/testis antigen 42"	605795	"testis expressed sequence 15"			11279525	Standard	NM_031271		Approved	CT42	uc003xil.3	Q9BXT5		ENST00000256246.2:c.7753G>A	8.37:g.30694898C>T	ENSP00000256246:p.Asp2585Asn						p.D2585N	NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)	3	7827	-			2585						Missense_Mutation	SNP	ENST00000256246.2	37	c.7753G>A	CCDS6080.1	.	.	.	.	.	.	.	.	.	.	C	13.81	2.348330	0.41599	.	.	ENSG00000133863	ENST00000256246	T	0.18657	2.2	4.95	2.16	0.27623	.	0.253349	0.28393	N	0.015509	T	0.15305	0.0369	L	0.32530	0.975	0.09310	N	1	B	0.12013	0.005	B	0.14578	0.011	T	0.20806	-1.0264	10	0.87932	D	0	.	8.8057	0.34936	0.0:0.733:0.0:0.267	.	2585	Q9BXT5	TEX15_HUMAN	N	2585	ENSP00000256246:D2585N	ENSP00000256246:D2585N	D	-	1	0	TEX15	30814440	0.008000	0.16893	0.005000	0.12908	0.002000	0.02628	0.504000	0.22626	0.356000	0.24157	-0.813000	0.03139	GAT		0.403	TEX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376193.1			23	66	0	0	0	1	0	23	66					T	30694898	C	T	30694898	3	4	277	1	0	0	0	0	1	0	0	0	15776	855	30	3	624	3	TEX15	8	30694898	Missense_Mutation	SNP	C	TCGA-J4-A83J-01A-11D-A364-08	5330654	30694898	115669124	31	12812											
NRG1	3084	broad.mit.edu	37	chr8	32453407	32453407	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gctgcaggttccaaactagtCcttcggtgtgaaaccagttc	9	11	10	11	1	0	1	0	1	0	0	4	1	2	1	3	2	3	4	3	2	3	4			TCGA-J4-A83J-01A-11D-A364-08	TCGA-J4-A83J-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26425bd7-6764-40d8-bfc9-fe8738359cc2	1da444be-497e-4cd9-96a8-1643c6f3d878	g.chr8:32453407C>T	ENST00000405005.3	+	2	162	c.162C>T	c.(160-162)gtC>gtT	p.V54V	NRG1_ENST00000521670.1_Silent_p.V54V|NRG1_ENST00000356819.4_Silent_p.V54V|NRG1_ENST00000519301.1_Silent_p.V33V|NRG1_ENST00000520407.1_Silent_p.V269V|NRG1_ENST00000523079.1_Silent_p.V54V|NRG1_ENST00000338921.4_Silent_p.V54V|NRG1_ENST00000287842.3_Silent_p.V54V|NRG1_ENST00000341377.5_Silent_p.V54V|NRG1_ENST00000287845.5_Silent_p.V54V			Q02297	NRG1_HUMAN	neuregulin 1	54	Ig-like C2-type.				activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|cardiac conduction system development (GO:0003161)|cardiac muscle cell differentiation (GO:0055007)|cardiac muscle cell myoblast differentiation (GO:0060379)|cell communication (GO:0007154)|cell migration (GO:0016477)|cell morphogenesis (GO:0000902)|cell proliferation (GO:0008283)|cellular protein complex disassembly (GO:0043624)|embryo development (GO:0009790)|endocardial cell differentiation (GO:0060956)|epidermal growth factor receptor signaling pathway (GO:0007173)|ERBB signaling pathway (GO:0038127)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glial cell fate commitment (GO:0021781)|innate immune response (GO:0045087)|locomotory behavior (GO:0007626)|mammary gland development (GO:0030879)|MAPK cascade (GO:0000165)|negative regulation of cardiac muscle cell apoptotic process (GO:0010667)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of secretion (GO:0051048)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|neural crest cell development (GO:0014032)|neuron fate commitment (GO:0048663)|neurotransmitter receptor metabolic process (GO:0045213)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peripheral nervous system development (GO:0007422)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell growth (GO:0030307)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of Ras protein signal transduction (GO:0046579)|positive regulation of striated muscle cell differentiation (GO:0051155)|regulation of protein heterodimerization activity (GO:0043497)|regulation of protein homodimerization activity (GO:0043496)|synapse assembly (GO:0007416)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|ventricular cardiac muscle cell differentiation (GO:0055012)|ventricular trabecula myocardium morphogenesis (GO:0003222)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|axon (GO:0030424)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)	cytokine activity (GO:0005125)|ErbB-3 class receptor binding (GO:0043125)|growth factor activity (GO:0008083)|protein tyrosine kinase activator activity (GO:0030296)|receptor binding (GO:0005102)|receptor tyrosine kinase binding (GO:0030971)|transcription cofactor activity (GO:0003712)|transmembrane receptor protein tyrosine kinase activator activity (GO:0030297)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(1)|skin(1)	39		Breast(100;0.203)		KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943)		CCAAACTAGTCCTTCGGTGTG	0.403																																						ENST00000341377.5																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(1)|skin(1)	39						c.(160-162)gtC>gtT		neuregulin 1							115	127	123					8																	32453407		2203	4300	6503	SO:0001819	synonymous_variant	3084				activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|cardiac muscle cell differentiation|cell communication|cell proliferation|cellular protein complex disassembly|embryo development|mammary gland development|negative regulation of cardiac muscle cell apoptosis|negative regulation of secretion|negative regulation of transcription, DNA-dependent|nervous system development|neural crest cell development|Notch signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of striated muscle cell differentiation|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|transmembrane receptor protein tyrosine kinase signaling pathway|ventricular cardiac muscle cell differentiation|wound healing	apical plasma membrane|extracellular region|extracellular space|integral to membrane|nucleus|plasma membrane	cytokine activity|ErbB-3 class receptor binding|growth factor activity|protein binding|protein tyrosine kinase activator activity|receptor tyrosine kinase binding|transcription cofactor activity|transmembrane receptor protein tyrosine kinase activator activity	g.chr8:32453407C>T	L12261	CCDS6084.1, CCDS6085.1, CCDS6086.1, CCDS6087.1, CCDS47836.1, CCDS55218.1, CCDS55219.1, CCDS75727.1	8p21-p12	2014-06-23			ENSG00000157168	ENSG00000157168		"Immunoglobulin superfamily / I-set domain containing"	7997	protein-coding gene	gene with protein product		142445	"NRG1 intronic transcript 2 (non-protein coding)"	HGL, NRG1-IT2		1350381, 8095334	Standard	NM_013962		Approved	HRG, NDF, GGF	uc003xiu.2	Q02297	OTTHUMG00000163918	ENST00000405005.3:c.162C>T	8.37:g.32453407C>T						NRG1_ENST00000287840.5_Silent_p.V54V|NRG1_ENST00000521670.1_Silent_p.V54V|NRG1_ENST00000287842.3_Silent_p.V54V|NRG1_ENST00000287845.5_Silent_p.V54V|NRG1_ENST00000356819.4_Silent_p.V54V|NRG1_ENST00000523079.1_Silent_p.V54V|NRG1_ENST00000405005.2_Silent_p.V54V|NRG1_ENST00000520407.1_Silent_p.V269V|NRG1_ENST00000338921.4_Silent_p.V54V|NRG1_ENST00000519301.1_Silent_p.V33V	p.V54V			Q02297	NRG1_HUMAN		KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943)	2	679	+		Breast(100;0.203)	54			Ig-like C2-type.		A5YAK4|A5YAK5|A8K1L2|B7Z4Z3|E9PHH4|O14667|P98202|Q02298|Q02299|Q07110|Q07111|Q12779|Q12780|Q12781|Q12782|Q12783|Q12784|Q15491|Q7RTV9|Q7RTW0|Q7RTW1|Q7RTW2|Q8NFN1|Q8NFN2|Q8NFN3|Q9UPE3	Silent	SNP	ENST00000405005.3	37	c.162C>T	CCDS6085.1																																																																																				0.403	NRG1-017	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000472504.1			5	104	0	0	0	1	0	5	104					T	32453407	C	T	32453407	2	4	277	1	0	0	0	0	0	0	0	1	10647	855	30	3		3	NRG1	8	32453407	Silent	SNP	C	TCGA-J4-A83J-01A-11D-A364-08	1758509	32453407	113910615	32	12813											
C8orf38	137682	broad.mit.edu	37	chr8	96070121	96070121	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tacagcagaagaatacattaCttccattatatttgtatatt	15	16	4	6	0	0	2	0	0	0	2	1	2	1	2	1	0	4	2	1	0	9	10			TCGA-J4-A83J-01A-11D-A364-08	TCGA-J4-A83J-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26425bd7-6764-40d8-bfc9-fe8738359cc2	1da444be-497e-4cd9-96a8-1643c6f3d878	g.chr8:96070121C>G	ENST00000396124.4	+	9	981	c.958C>G	c.(958-960)Ctt>Gtt	p.L320V	NDUFAF6_ENST00000396113.1_Missense_Mutation_p.L228V|RNU6-1209P_ENST00000363655.1_RNA|NDUFAF6_ENST00000286687.4_Intron|NDUFAF6_ENST00000542894.1_Missense_Mutation_p.L268V|NDUFAF6_ENST00000396111.2_Missense_Mutation_p.L228V	NM_152416.3	NP_689629.2	Q330K2	NDUF6_HUMAN	NADH dehydrogenase (ubiquinone) complex I, assembly factor 6	320					biosynthetic process (GO:0009058)|mitochondrial respiratory chain complex I assembly (GO:0032981)	cytoplasm (GO:0005737)|mitochondrial inner membrane (GO:0005743)|nucleus (GO:0005634)	transferase activity (GO:0016740)										GAATACATTACTTCCATTATA	0.289																																						ENST00000396113.1																			0											c.(682-684)Ctt>Gtt		NADH dehydrogenase (ubiquinone) complex I, assembly factor 6							48	47	47					8																	96070121		1785	4054	5839	SO:0001583	missense	137682				biosynthetic process	mitochondrion	transferase activity	g.chr8:96070121C>G	BC028166	CCDS6266.2	8q22.1	2013-10-21	2012-05-08	2012-05-08	ENSG00000156170	ENSG00000156170		"Mitochondrial respiratory chain complex assembly factors"	28625	protein-coding gene	gene with protein product		612392	"chromosome 8 open reading frame 38"	C8orf38		22019594, 23509070	Standard	NM_152416		Approved	MGC40214	uc003yhj.3	Q330K2	OTTHUMG00000150173	ENST00000396124.4:c.958C>G	8.37:g.96070121C>G	ENSP00000379430:p.Leu320Val					NDUFAF6_ENST00000396111.2_Missense_Mutation_p.L228V|NDUFAF6_ENST00000286687.4_Intron|NDUFAF6_ENST00000542894.1_Missense_Mutation_p.L268V|NDUFAF6_ENST00000396124.4_Missense_Mutation_p.L320V	p.L228V			Q330K2	CH038_HUMAN			15	1732	+			320					A8MT28|A8MWF0|B4DQ45|Q8N6U6	Missense_Mutation	SNP	ENST00000396124.4	37	c.682C>G	CCDS6266.2	.	.	.	.	.	.	.	.	.	.	C	16.77	3.214199	0.58452	.	.	ENSG00000156170	ENST00000396113;ENST00000396111;ENST00000542894;ENST00000396124	T;T;T;T	0.72051	-0.62;-0.62;-0.62;-0.62	5.9	3.79	0.43588	Terpenoid synthase (1);	0.517370	0.17464	N	0.173355	D	0.82440	0.5037	M	0.87381	2.88	0.80722	D	1	P;P;D	0.59357	0.833;0.577;0.985	P;B;P	0.57009	0.6;0.273;0.811	D	0.85262	0.1051	10	0.66056	D	0.02	-13.0234	12.9517	0.58405	0.0:0.8417:0.0:0.1583	.	320;268;288	Q330K2;Q330K2-2;B4DQ45	CH038_HUMAN;.;.	V	228;228;268;320	ENSP00000379419:L228V;ENSP00000379417:L228V;ENSP00000444515:L268V;ENSP00000379430:L320V	ENSP00000379417:L228V	L	+	1	0	C8orf38	96139297	1.000000	0.71417	0.604000	0.28916	0.990000	0.78478	2.713000	0.47194	1.499000	0.48617	0.563000	0.77884	CTT		0.289	NDUFAF6-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316700.2	NM_152416		21	64	0	0	0	1	0	21	64					G	96070121	C	G	96070121	3	3	277	1	0	0	0	0	1	0	0	0	2424	565	20	5	992	5	C8orf38	8	96070121	Missense_Mutation	SNP	C	TCGA-J4-A83J-01A-11D-A364-08	63616714	96070121	50293901	33	12814											
CSMD3	114788	broad.mit.edu	37	chr8	113812389	113812389	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctatgtagaaattaatcattAcctttgtagttaaccttgaa	14	16	5	6	0	1	2	1	1	0	1	1	2	1	2	2	0	2	3	2	0	8	8			TCGA-J4-A83J-01A-11D-A364-08	TCGA-J4-A83J-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26425bd7-6764-40d8-bfc9-fe8738359cc2	1da444be-497e-4cd9-96a8-1643c6f3d878	g.chr8:113812389A>G	ENST00000297405.5	-	13	2217		c.e13+1		CSMD3_ENST00000352409.3_Splice_Site|CSMD3_ENST00000455883.2_Splice_Site|CSMD3_ENST00000343508.3_Splice_Site	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3							integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						ATTAATCATTACCTTTGTAGT	0.338										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												ENST00000297405.5																			0				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						c.e13+1		CUB and Sushi multiple domains 3							100	93	96					8																	113812389		2203	4300	6503	SO:0001630	splice_region_variant	114788					integral to membrane|plasma membrane		g.chr8:113812389A>G	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.1972+1T>C	8.37:g.113812389A>G		HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_ENST00000343508.3_Splice_Site|CSMD3_ENST00000352409.3_Splice_Site|CSMD3_ENST00000455883.2_Splice_Site		NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN			13	2217	-								Q96PZ3	Splice_Site	SNP	ENST00000297405.5	37		CCDS6315.1	.	.	.	.	.	.	.	.	.	.	A	26.9	4.780779	0.90195	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000455883;ENST00000352409	.	.	.	5.83	5.83	0.93111	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.2002	0.82067	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CSMD3	113881565	1.000000	0.71417	1.000000	0.80357	0.929000	0.56500	9.127000	0.94417	2.231000	0.72958	0.454000	0.30748	.		0.338	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900	Intron	14	36	0	0	0	1	0	14	36					G	113812389	A	G	113812389	5	3	277	1	0	0	0	0	0	0	1	0	3946	405	14	4	9385	4	CSMD3	8	113812389	Splice_Site	SNP	A	TCGA-J4-A83J-01A-11D-A364-08	17742268	113812389	32551633	34	12815											
ABCA1	19	broad.mit.edu	37	chr9	107645339	107645339	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cttgagctggatttcttgatCtgctgtaatgttctcagaac	8	16	9	8	0	3	3	1	2	3	1	4	4	3	4	0	1	3	4	0	1	2	5			TCGA-J4-A83J-01A-11D-A364-08	TCGA-J4-A83J-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26425bd7-6764-40d8-bfc9-fe8738359cc2	1da444be-497e-4cd9-96a8-1643c6f3d878	g.chr9:107645339C>T	ENST00000374736.3	-	5	796	c.402G>A	c.(400-402)caG>caA	p.Q134Q	ABCA1_ENST00000423487.2_Silent_p.Q134Q|ABCA1_ENST00000374733.1_Silent_p.Q74Q	NM_005502.3	NP_005493.2	O95477	ABCA1_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 1	134					apolipoprotein A-I-mediated signaling pathway (GO:0038027)|cellular lipid metabolic process (GO:0044255)|cellular response to cholesterol (GO:0071397)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to retinoic acid (GO:0071300)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|endosomal transport (GO:0016197)|G-protein coupled receptor signaling pathway (GO:0007186)|high-density lipoprotein particle assembly (GO:0034380)|interleukin-1 beta secretion (GO:0050702)|intracellular cholesterol transport (GO:0032367)|lipoprotein metabolic process (GO:0042157)|lysosome organization (GO:0007040)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|peptide secretion (GO:0002790)|phagocytosis, engulfment (GO:0006911)|phospholipid efflux (GO:0033700)|phospholipid homeostasis (GO:0055091)|phospholipid translocation (GO:0045332)|platelet dense granule organization (GO:0060155)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cholesterol efflux (GO:0010875)|protein lipidation (GO:0006497)|regulation of Cdc42 protein signal transduction (GO:0032489)|response to drug (GO:0042493)|response to laminar fluid shear stress (GO:0034616)|response to low-density lipoprotein particle (GO:0055098)|response to nutrient (GO:0007584)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)	endocytic vesicle (GO:0030139)|external side of plasma membrane (GO:0009897)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)	anion transmembrane transporter activity (GO:0008509)|apolipoprotein A-I binding (GO:0034186)|apolipoprotein A-I receptor activity (GO:0034188)|apolipoprotein binding (GO:0034185)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase binding (GO:0051117)|cholesterol binding (GO:0015485)|cholesterol transporter activity (GO:0017127)|phospholipid binding (GO:0005543)|phospholipid transporter activity (GO:0005548)|receptor binding (GO:0005102)|small GTPase binding (GO:0031267)|syntaxin binding (GO:0019905)			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	115				OV - Ovarian serous cystadenocarcinoma(323;0.023)	Adenosine triphosphate(DB00171)|Glyburide(DB01016)|Probucol(DB01599)	ATTTCTTGATCTGCTGTAATG	0.468																																						ENST00000374736.3																			0				NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	115						c.(400-402)caG>caA		ATP-binding cassette, sub-family A (ABC1), member 1	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)						174	164	167					9																	107645339		2203	4300	6503	SO:0001819	synonymous_variant	19				Cdc42 protein signal transduction|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport	integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle	anion transmembrane transporter activity|apolipoprotein A-I receptor activity|ATP binding|ATPase activity|cholesterol transporter activity|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding	g.chr9:107645339C>T	AJ012376	CCDS6762.1	9q31	2014-03-14			ENSG00000165029	ENSG00000165029		"ATP binding cassette transporters / subfamily A"	29	protein-coding gene	gene with protein product	"Tangier disease"	600046		ABC1, HDLDT1		8088782, 10431236, 10431237, 10431238	Standard	NM_005502		Approved	TGD	uc004bcl.3	O95477	OTTHUMG00000020417	ENST00000374736.3:c.402G>A	9.37:g.107645339C>T						ABCA1_ENST00000423487.2_Silent_p.Q134Q|ABCA1_ENST00000374733.1_Silent_p.Q74Q	p.Q134Q	NM_005502.3	NP_005493.2	O95477	ABCA1_HUMAN		OV - Ovarian serous cystadenocarcinoma(323;0.023)	5	796	-			134					Q5VX33|Q96S56|Q96T85|Q9NQV4|Q9UN06|Q9UN07|Q9UN08|Q9UN09	Silent	SNP	ENST00000374736.3	37	c.402G>A	CCDS6762.1																																																																																				0.468	ABCA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053491.1	NM_005502		8	103	0	0	0	1	0	8	103					T	107645339	C	T	107645339	2	4	277	1	0	0	0	0	0	0	0	1	28	912	32	3		3	ABCA1	9	107645339	Silent	SNP	C	TCGA-J4-A83J-01A-11D-A364-08		107645339	33568092	35	12816											
PITRM1	10531	broad.mit.edu	37	chr10	3208477	3208477	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaacattttgaagaaagggTctctgcacggatatttctga	12	13	9	7	1	3	3	1	2	2	1	4	4	3	4	0	2	2	1	0	2	4	4			TCGA-J4-A83J-01A-11D-A364-08	TCGA-J4-A83J-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26425bd7-6764-40d8-bfc9-fe8738359cc2	1da444be-497e-4cd9-96a8-1643c6f3d878	g.chr10:3208477T>C	ENST00000224949.4	-	4	396	c.362A>G	c.(361-363)gAc>gGc	p.D121G	PITRM1_ENST00000451104.2_Missense_Mutation_p.D89G|PITRM1-AS1_ENST00000601046.1_RNA|PITRM1-AS1_ENST00000598280.1_RNA|PITRM1_ENST00000380989.2_Missense_Mutation_p.D121G			Q5JRX3	PREP_HUMAN	pitrilysin metallopeptidase 1	121				D -> N (in Ref. 1; AAC67244). {ECO:0000305}.	positive regulation of catalytic activity (GO:0043085)|proteolysis (GO:0006508)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	enzyme activator activity (GO:0008047)|metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			breast(2)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|urinary_tract(3)	33						GAAGAAAGGGTCTCTGCACGG	0.498																																						ENST00000380989.2																			0				breast(2)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|urinary_tract(3)	33						c.(361-363)gAc>gGc		pitrilysin metallopeptidase 1							192	191	191					10																	3208477		1952	4147	6099	SO:0001583	missense	10531				proteolysis		metalloendopeptidase activity|zinc ion binding	g.chr10:3208477T>C	AB029027	CCDS55699.1, CCDS55700.1, CCDS59208.1	10p15.2	2008-07-30	2005-08-17		ENSG00000107959	ENSG00000107959			17663	protein-coding gene	gene with protein product	"PreP peptidasome"		"pitrilysin metalloproteinase 1"			1036083, 10470851, 16849325	Standard	NM_014889		Approved	MP1, KIAA1104, hMP1, PreP	uc009xhv.2	Q5JRX3	OTTHUMG00000017557	ENST00000224949.4:c.362A>G	10.37:g.3208477T>C	ENSP00000224949:p.Asp121Gly					PITRM1_ENST00000451104.2_Missense_Mutation_p.D89G|PITRM1_ENST00000224949.4_Missense_Mutation_p.D121G|PITRM1-AS1_ENST00000598280.1_RNA	p.D121G	NM_001242307.1|NM_014889.3	NP_001229236.1|NP_055704.2	E7ES23	E7ES23_HUMAN			4	400	-			89					B3KMJ6|B4E0J8|C9JSL2|E7ES23|O95204|Q2M2G6|Q4VBR1|Q5JRW7|Q7L5Z7|Q9BSI6|Q9BVJ5|Q9UPP8	Missense_Mutation	SNP	ENST00000224949.4	37	c.362A>G	CCDS59208.1	.	.	.	.	.	.	.	.	.	.	t	20.9	4.065008	0.76187	.	.	ENSG00000107959	ENST00000224949;ENST00000380980;ENST00000380989;ENST00000451104	T;T;T	0.32023	1.47;1.47;1.47	5.55	5.55	0.83447	Peptidase M16, core (1);Metalloenzyme, LuxS/M16 peptidase-like, metal-binding (1);Peptidase M16, N-terminal (1);	0.129088	0.64402	N	0.000001	T	0.54464	0.1860	M	0.77313	2.365	0.80722	D	1	P;P;P;P;P;P	0.52842	0.956;0.866;0.757;0.878;0.795;0.931	P;P;B;P;P;P	0.59948	0.73;0.866;0.422;0.823;0.823;0.823	T	0.60125	-0.7324	10	0.87932	D	0	.	15.7592	0.78063	0.0:0.0:0.0:1.0	.	114;89;121;121;121;114	E9PDX6;E7ES23;Q5JRX3-2;C9JSL2;Q5JRX3;B4DH07	.;.;.;.;PREP_HUMAN;.	G	121;114;121;89	ENSP00000224949:D121G;ENSP00000370377:D121G;ENSP00000401201:D89G	ENSP00000224949:D121G	D	-	2	0	PITRM1	3198477	1.000000	0.71417	0.998000	0.56505	0.457000	0.32468	7.447000	0.80620	2.128000	0.65567	0.374000	0.22700	GAC		0.498	PITRM1-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000046469.2			34	67	0	0	0	1	0	34	67					C	3208477	T	C	3208477	3	2	277	1	0	0	0	0	1	0	0	0	11953	1667	58	4	2847	4	PITRM1	10	3208477	Missense_Mutation	SNP	T	TCGA-J4-A83J-01A-11D-A364-08		3208477	132326270	36	12817											
PTF1A	256297	broad.mit.edu	37	chr10	23482633	23482633	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ttctcttctcacctgtccagGgtccccctcccccagcgacc	4	10	6	21	1	2	0	1	0	2	0	7	1	5	0	7	1	1	0	7	1	0	2			TCGA-J4-A83J-01A-11D-A364-08	TCGA-J4-A83J-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26425bd7-6764-40d8-bfc9-fe8738359cc2	1da444be-497e-4cd9-96a8-1643c6f3d878	g.chr10:23482633G>T	ENST00000376504.3	+	2	989	c.785G>T	c.(784-786)cGg>cTg	p.R262L		NM_178161.2	NP_835455.1	Q7RTS3	PTF1A_HUMAN	pancreas specific transcription factor, 1a	262					amacrine cell differentiation (GO:0035881)|cerebellum development (GO:0021549)|embryo development (GO:0009790)|endocrine pancreas development (GO:0031018)|exocrine pancreas development (GO:0031017)|neuron fate commitment (GO:0048663)|pancreas development (GO:0031016)|regulation of neural retina development (GO:0061074)|regulation of transcription, DNA-templated (GO:0006355)|retina layer formation (GO:0010842)|retinoic acid receptor signaling pathway (GO:0048384)|tissue development (GO:0009888)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|E-box binding (GO:0070888)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)			endometrium(1)|large_intestine(1)|lung(3)|pancreas(1)|skin(1)	7						ACCTGTCCAGGGTCCCCCTCC	0.507																																						ENST00000376504.3																			0				endometrium(1)|large_intestine(1)|lung(3)|pancreas(1)|skin(1)	7						c.e2-1		pancreas specific transcription factor, 1a							151	171	165					10																	23482633		2203	4300	6503	SO:0001630	splice_region_variant	256297				endocrine pancreas development|exocrine pancreas development|regulation of transcription, DNA-dependent|tissue development|transcription, DNA-dependent	cytoplasm|transcription factor complex		g.chr10:23482633G>T	BK000272	CCDS7143.1	10p12.31	2013-05-21			ENSG00000168267	ENSG00000168267		"Basic helix-loop-helix proteins"	23734	protein-coding gene	gene with protein product		607194				8703005	Standard	NM_178161		Approved	PTF1-p48, bHLHa29	uc001irp.3	Q7RTS3	OTTHUMG00000017815	ENST00000376504.3:c.785-1G>T	10.37:g.23482633G>T							p.R262_splice	NM_178161.2	NP_835455.1	Q7RTS3	PTF1A_HUMAN			2	989	+			262					Q9HC25	Splice_Site	SNP	ENST00000376504.3	37	c.784_splice	CCDS7143.1	.	.	.	.	.	.	.	.	.	.	G	19.94	3.919066	0.73098	.	.	ENSG00000168267	ENST00000376504	D	0.94793	-3.52	5.34	5.34	0.76211	.	0.063256	0.64402	D	0.000014	D	0.96349	0.8809	L	0.54323	1.7	0.80722	D	1	D	0.71674	0.998	D	0.76071	0.987	D	0.95646	0.8702	9	.	.	.	.	18.6906	0.91581	0.0:0.0:1.0:0.0	.	262	Q7RTS3	PTF1A_HUMAN	L	262	ENSP00000365687:R262L	.	R	+	2	0	PTF1A	23522639	1.000000	0.71417	0.995000	0.50966	0.778000	0.44026	9.711000	0.98735	2.519000	0.84933	0.555000	0.69702	CGG		0.507	PTF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047210.1	NM_178161	Missense_Mutation	6	151	1	0	3.59834e-05	1	3.80396e-05	6	151					T	23482633	G	T	23482633	5	4	277	1	0	0	0	0	0	0	1	0	12740	1246	43	5	791	5	PTF1A	10	23482633	Splice_Site	SNP	G	TCGA-J4-A83J-01A-11D-A364-08	20274156	23482633	112052114	37	12818											
GPR158	57512	broad.mit.edu	37	chr10	25887198	25887198	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttggtgtgcaagtcagcaagCgctcacaacctcagctcaga	11	8	10	12	1	4	1	4	0	0	1	4	1	4	1	1	1	5	4	1	1	3	1			TCGA-J4-A83J-01A-11D-A364-08	TCGA-J4-A83J-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26425bd7-6764-40d8-bfc9-fe8738359cc2	1da444be-497e-4cd9-96a8-1643c6f3d878	g.chr10:25887198C>T	ENST00000376351.3	+	11	3002	c.2643C>T	c.(2641-2643)agC>agT	p.S881S	GPR158_ENST00000490549.1_3'UTR	NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158	881					protein localization to plasma membrane (GO:0072659)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						AGTCAGCAAGCGCTCACAACC	0.502																																						ENST00000376351.3																			0				breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						c.(2641-2643)agC>agT		G protein-coupled receptor 158							93	95	94					10																	25887198		2203	4300	6503	SO:0001819	synonymous_variant	57512					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr10:25887198C>T	AB032962	CCDS31166.1	10p12.31	2012-08-21			ENSG00000151025	ENSG00000151025		"GPCR / Class C : Orphans"	23689	protein-coding gene	gene with protein product		614573					Standard	NM_020752		Approved	KIAA1136	uc001isj.3	Q5T848	OTTHUMG00000017832	ENST00000376351.3:c.2643C>T	10.37:g.25887198C>T						GPR158_ENST00000490549.1_3'UTR	p.S881S	NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN			11	3002	+			881					Q6QR81|Q9ULT3	Silent	SNP	ENST00000376351.3	37	c.2643C>T	CCDS31166.1																																																																																				0.502	GPR158-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047248.2	XM_166110		24	69	0	0	0	1	0	24	69					T	25887198	C	T	25887198	2	4	277	1	0	0	0	0	0	0	0	1	6663	767	27	1		1	GPR158	10	25887198	Silent	SNP	C	TCGA-J4-A83J-01A-11D-A364-08	2404565	25887198	109647549	38	12819											
MAP3K8	1326	broad.mit.edu	37	chr10	30739283	30739283	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atggcgcagtcctgtggggtGaaactgtccatctctttatg	7	13	12	9	1	1	1	0	1	1	0	4	1	3	1	2	3	1	1	2	3	2	2			TCGA-J4-A83J-01A-11D-A364-08	TCGA-J4-A83J-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26425bd7-6764-40d8-bfc9-fe8738359cc2	1da444be-497e-4cd9-96a8-1643c6f3d878	g.chr10:30739283G>A	ENST00000263056.1	+	5	1297	c.601G>A	c.(601-603)Gaa>Aaa	p.E201K	MAP3K8_ENST00000542547.1_Missense_Mutation_p.E201K|MAP3K8_ENST00000375321.1_Missense_Mutation_p.E201K	NM_001244134.1|NM_005204.3	NP_001231063.1|NP_005195.2	P41279	M3K8_HUMAN	mitogen-activated protein kinase kinase kinase 8	201	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell cycle (GO:0007049)|protein phosphorylation (GO:0006468)|T cell costimulation (GO:0031295)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|MAP kinase kinase kinase activity (GO:0004709)|protein serine/threonine kinase activity (GO:0004674)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23		Prostate(175;0.151)				CCTGTGGGGTGAAACTGTCCA	0.493																																						ENST00000263056.1																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						c.(601-603)Gaa>Aaa		mitogen-activated protein kinase kinase kinase 8							123	119	120					10																	30739283		2203	4300	6503	SO:0001583	missense	1326				cell cycle|T cell costimulation	cytosol	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein binding	g.chr10:30739283G>A	D14497	CCDS7166.1	10p11.2	2011-06-09			ENSG00000107968	ENSG00000107968		"Mitogen-activated protein kinase cascade / Kinase kinase kinases"	6860	protein-coding gene	gene with protein product		191195		COT, ESTF		2072910, 8479752	Standard	NM_005204		Approved	Tpl-2, EST, c-COT, MEKK8	uc009xlf.2	P41279	OTTHUMG00000017889	ENST00000263056.1:c.601G>A	10.37:g.30739283G>A	ENSP00000263056:p.Glu201Lys					MAP3K8_ENST00000375321.1_Missense_Mutation_p.E201K|MAP3K8_ENST00000542547.1_Missense_Mutation_p.E201K	p.E201K	NM_001244134.1|NM_005204.3	NP_001231063.1|NP_005195.2	P41279	M3K8_HUMAN			5	1297	+		Prostate(175;0.151)	201			Protein kinase.		A8K2Q5|D3DRX1|Q14275|Q5T855|Q9HC81	Missense_Mutation	SNP	ENST00000263056.1	37	c.601G>A	CCDS7166.1	.	.	.	.	.	.	.	.	.	.	G	14.66	2.602480	0.46423	.	.	ENSG00000107968	ENST00000375328;ENST00000263056;ENST00000542547;ENST00000415139;ENST00000413724;ENST00000375321	T;T;T;T;T	0.64618	1.07;1.07;-0.11;-0.11;1.07	5.33	5.33	0.75918	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.259259	0.45126	D	0.000382	T	0.47210	0.1433	N	0.17922	0.545	0.40344	D	0.979066	B	0.12013	0.005	B	0.19391	0.025	T	0.40794	-0.9544	10	0.33940	T	0.23	.	12.7111	0.57089	0.0758:0.0:0.9241:0.0	.	201	P41279	M3K8_HUMAN	K	201	ENSP00000263056:E201K;ENSP00000443610:E201K;ENSP00000409653:E201K;ENSP00000391275:E201K;ENSP00000364470:E201K	ENSP00000263056:E201K	E	+	1	0	MAP3K8	30779289	1.000000	0.71417	0.559000	0.28332	0.925000	0.55904	5.603000	0.67619	2.658000	0.90341	0.650000	0.86243	GAA		0.493	MAP3K8-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047416.2	NM_005204		19	46	0	0	0	1	0	19	46					A	30739283	G	A	30739283	3	1	277	1	0	0	0	0	1	0	0	0	9256	1291	45	3	611	3	MAP3K8	10	30739283	Missense_Mutation	SNP	G	TCGA-J4-A83J-01A-11D-A364-08	4852085	30739283	104795464	39	12820											
DOCK1	1793	broad.mit.edu	37	chr10	129224169	129224169	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggccgaagggatcagaatccAtggagacaaagtcacggagg	14	4	15	8	2	2	2	2	0	0	2	3	6	3	4	2	5	0	0	2	5	3	0			TCGA-J4-A83J-01A-11D-A364-08	TCGA-J4-A83J-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26425bd7-6764-40d8-bfc9-fe8738359cc2	1da444be-497e-4cd9-96a8-1643c6f3d878	g.chr10:129224169A>G	ENST00000280333.6	+	47	4854	c.4745A>G	c.(4744-4746)cAt>cGt	p.H1582R		NM_001380.3	NP_001371.1	Q14185	DOCK1_HUMAN	dedicator of cytokinesis 1	1582	DHR-2.				apoptotic process (GO:0006915)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|hematopoietic progenitor cell differentiation (GO:0002244)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|phagocytosis, engulfment (GO:0006911)|positive regulation of GTPase activity (GO:0043547)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)			NS(2)|breast(1)|central_nervous_system(7)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(10)|lung(15)|ovary(4)|prostate(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	72		all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14)		BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115)		ATCAGAATCCATGGAGACAAA	0.498																																						ENST00000280333.6																			0				NS(2)|breast(1)|central_nervous_system(7)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(10)|lung(15)|ovary(4)|prostate(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	72						c.(4744-4746)cAt>cGt		dedicator of cytokinesis 1							189	189	189					10																	129224169		1924	4140	6064	SO:0001583	missense	1793				apoptosis|axon guidance|blood coagulation|integrin-mediated signaling pathway|phagocytosis, engulfment|small GTPase mediated signal transduction	cytosol|membrane	GTP binding|GTPase activator activity|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding	g.chr10:129224169A>G	D50857	CCDS73222.1	10q26.13-q26.3	2009-10-28			ENSG00000150760	ENSG00000150760			2987	protein-coding gene	gene with protein product	"DOwnstream of CrK"	601403	"dedicator of cyto-kinesis 1"			8657152, 8661160	Standard	XM_006717681		Approved	DOCK180, ced5	uc001ljt.3	Q14185	OTTHUMG00000019249	ENST00000280333.6:c.4745A>G	10.37:g.129224169A>G	ENSP00000280333:p.His1582Arg						p.H1582R	NM_001380.3	NP_001371.1	Q14185	DOCK1_HUMAN		BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115)	47	4854	+		all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14)	1582			DHR-2.		A9Z1Z5	Missense_Mutation	SNP	ENST00000280333.6	37	c.4745A>G		.	.	.	.	.	.	.	.	.	.	a	15.68	2.904931	0.52333	.	.	ENSG00000150760	ENST00000280333	T	0.19394	2.15	4.98	4.98	0.66077	.	0.110077	0.64402	D	0.000009	T	0.56093	0.1962	M	0.92122	3.275	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;0.995	T	0.68375	-0.5425	10	0.87932	D	0	.	14.8644	0.70404	1.0:0.0:0.0:0.0	.	1582;1648;1582	B2RUU3;A8MU08;Q14185	.;.;DOCK1_HUMAN	R	1582	ENSP00000280333:H1582R	ENSP00000280333:H1582R	H	+	2	0	DOCK1	129114159	1.000000	0.71417	0.998000	0.56505	0.031000	0.12232	9.078000	0.94023	2.094000	0.63399	0.370000	0.22315	CAT		0.498	DOCK1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000050979.2	NM_001380		37	89	0	0	0	1	0	37	89					G	129224169	A	G	129224169	3	3	277	1	0	0	0	0	1	0	0	0	4684	217	8	4	4931	4	DOCK1	10	129224169	Missense_Mutation	SNP	A	TCGA-J4-A83J-01A-11D-A364-08	98484886	129224169	6310578	40	12821											
LRRC27	80313	broad.mit.edu	37	chr10	134165247	134165247	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agaagcaggctctgatggagCagcagagacggtgagtccac	12	5	15	9	1	1	4	0	2	1	2	2	6	2	5	1	3	3	4	1	3	1	0			TCGA-J4-A83J-01A-11D-A364-08	TCGA-J4-A83J-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26425bd7-6764-40d8-bfc9-fe8738359cc2	1da444be-497e-4cd9-96a8-1643c6f3d878	g.chr10:134165247C>T	ENST00000368614.3	+	7	1168	c.1063C>T	c.(1063-1065)Cag>Tag	p.Q355*	LRRC27_ENST00000368613.4_Nonsense_Mutation_p.Q355*|LRRC27_ENST00000432555.2_Nonsense_Mutation_p.Q228*|LRRC27_ENST00000368615.3_Nonsense_Mutation_p.Q355*|LRRC27_ENST00000368610.3_Nonsense_Mutation_p.Q293*|LRRC27_ENST00000344079.5_3'UTR|LRRC27_ENST00000475747.1_3'UTR|LRRC27_ENST00000392638.2_3'UTR|LRRC27_ENST00000368612.1_Nonsense_Mutation_p.Q293*	NM_030626.2	NP_085129.1	Q9C0I9	LRC27_HUMAN	leucine rich repeat containing 27	355										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)	18		all_cancers(35;6.28e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19)		OV - Ovarian serous cystadenocarcinoma(35;9.12e-05)|Epithelial(32;0.000116)|all cancers(32;0.000145)|BRCA - Breast invasive adenocarcinoma(275;0.218)		TCTGATGGAGCAGCAGAGACG	0.622																																						ENST00000368610.3																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)	18						c.(877-879)Cag>Tag		leucine rich repeat containing 27							38	42	41					10																	134165247		2203	4300	6503	SO:0001587	stop_gained	80313							g.chr10:134165247C>T	AB051461	CCDS31316.1, CCDS44496.1	10q26.3	2013-09-20			ENSG00000148814	ENSG00000148814			29346	protein-coding gene	gene with protein product						11214970	Standard	NM_030626		Approved	KIAA1674	uc010quw.1	Q9C0I9	OTTHUMG00000019284	ENST00000368614.3:c.1063C>T	10.37:g.134165247C>T	ENSP00000357603:p.Gln355*					LRRC27_ENST00000368614.3_Nonsense_Mutation_p.Q355*|LRRC27_ENST00000344079.5_3'UTR|LRRC27_ENST00000475747.1_3'UTR|LRRC27_ENST00000432555.2_Nonsense_Mutation_p.Q228*|LRRC27_ENST00000392638.2_3'UTR|LRRC27_ENST00000368612.1_Nonsense_Mutation_p.Q293*|LRRC27_ENST00000368613.4_Nonsense_Mutation_p.Q355*|LRRC27_ENST00000368615.3_Nonsense_Mutation_p.Q355*	p.Q293*			Q9C0I9	LRC27_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;9.12e-05)|Epithelial(32;0.000116)|all cancers(32;0.000145)|BRCA - Breast invasive adenocarcinoma(275;0.218)	6	877	+		all_cancers(35;6.28e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19)	355					A6NE72|A6NJB4|A6NKD3|D3DRH0|Q5SZH6|Q5SZH8|Q5SZH9|Q86XT5|Q8N7C8|Q8NA21	Nonsense_Mutation	SNP	ENST00000368614.3	37	c.877C>T	CCDS31316.1	.	.	.	.	.	.	.	.	.	.	C	25.8	4.679283	0.88542	.	.	ENSG00000148814	ENST00000368615;ENST00000368614;ENST00000368613;ENST00000368612;ENST00000368610;ENST00000432555	.	.	.	4.16	3.24	0.37175	.	0.102871	0.37095	N	0.002250	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.49607	T	0.09	-31.2381	9.899	0.41335	0.2045:0.7955:0.0:0.0	.	.	.	.	X	355;355;355;293;293;228	.	ENSP00000357599:Q293X	Q	+	1	0	LRRC27	134015237	0.994000	0.37717	0.056000	0.19401	0.001000	0.01503	1.151000	0.31651	1.051000	0.40369	-0.310000	0.09108	CAG		0.622	LRRC27-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051058.2	XM_290462		6	72	0	0	0	1	0	6	72					T	134165247	C	T	134165247	4	4	277	1	0	0	0	0	0	1	0	0	8981	711	25	3	1184	3	LRRC27	10	134165247	Nonsense_Mutation	SNP	C	TCGA-J4-A83J-01A-11D-A364-08	4941078	134165247	1369500	41	12822											
C10orf93	54777	broad.mit.edu	37	chr10	134743283	134743283	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttcaaggtcaaggaaaaacGcgccaattcaaaaagcaaaa	20	6	7	8	2	3	0	3	0	0	0	3	1	3	1	1	2	2	1	1	2	9	2	rs141623050		TCGA-J4-A83J-01A-11D-A364-08	TCGA-J4-A83J-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26425bd7-6764-40d8-bfc9-fe8738359cc2	1da444be-497e-4cd9-96a8-1643c6f3d878	g.chr10:134743283G>A	ENST00000368586.5	-	9	992	c.892C>T	c.(892-894)Cgt>Tgt	p.R298C	TTC40_ENST00000368585.3_Missense_Mutation_p.R298C|TTC40_ENST00000368582.2_Missense_Mutation_p.R298C	NM_001200049.2	NP_001186978.2														breast(1)|endometrium(5)|lung(19)|urinary_tract(3)	28						AAGGAAAAACGCGCCAATTCA	0.493																																						ENST00000368586.5																			0				breast(1)|endometrium(5)|lung(19)|urinary_tract(3)	28						c.(892-894)Cgt>Tgt		tetratricopeptide repeat domain 40		G	CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	51	53	52		892	2.1	0	10	dbSNP_134	52	1,8599	1.2+/-3.3	0,1,4299	no	missense	C10orf93	NM_173572.3	180	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	probably-damaging	298/406	134743283	2,13004	2203	4300	6503	SO:0001583	missense	54777							g.chr10:134743283G>A																												ENST00000368586.5:c.892C>T	10.37:g.134743283G>A	ENSP00000357575:p.Arg298Cys					TTC40_ENST00000368585.3_Missense_Mutation_p.R298C|TTC40_ENST00000368582.2_Missense_Mutation_p.R298C	p.R298C	NM_001200049.2	NP_001186978.2	Q8IYW2	CJ092_HUMAN			9	992	-			0						Missense_Mutation	SNP	ENST00000368586.5	37	c.892C>T	CCDS58101.1	.	.	.	.	.	.	.	.	.	.	G	11.62	1.691723	0.30052	2.27E-4	1.16E-4	ENSG00000171811	ENST00000368586;ENST00000368582;ENST00000368585	T;T;T	0.56103	0.48;0.48;0.48	4.02	2.13	0.27403	.	1.394770	0.05045	U	0.477054	T	0.67116	0.2859	L	0.59436	1.845	0.09310	N	0.999999	D	0.76494	0.999	P	0.62014	0.897	T	0.50406	-0.8832	10	0.87932	D	0	.	9.6642	0.39974	0.1833:0.0:0.8167:0.0	.	298	Q5SR76-1	.	C	298	ENSP00000357575:R298C;ENSP00000357571:R298C;ENSP00000357574:R298C	ENSP00000357571:R298C	R	-	1	0	C10orf93	134593273	0.942000	0.31987	0.000000	0.03702	0.000000	0.00434	5.784000	0.68990	0.418000	0.25898	-0.291000	0.09656	CGT		0.493	TTC40-001	PUTATIVE	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000051095.3			8	32	0	0	0	1	0	8	32					A	134743283	G	A	134743283	3	1	277	1	0	0	0	0	1	0	0	0	1625	1087	38	1	329	1	C10orf93	10	134743283	Missense_Mutation	SNP	G	TCGA-J4-A83J-01A-11D-A364-08	578036	134743283	791464	42	12823											
OR5L1	219437	broad.mit.edu	37	chr11	55579005	55579005	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttggactatcagatgtcccTgagttgagagtctgcctctt	7	14	10	10	0	3	3	1	2	2	2	4	5	4	4	2	1	1	1	2	1	1	4	rs201075284		TCGA-J4-A83J-01A-11D-A364-08	TCGA-J4-A83J-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26425bd7-6764-40d8-bfc9-fe8738359cc2	1da444be-497e-4cd9-96a8-1643c6f3d878	g.chr11:55579005T>A	ENST00000333973.2	+	1	152	c.63T>A	c.(61-63)ccT>ccA	p.P21P		NM_001004738.1	NP_001004738.1	Q8NGL2	OR5L1_HUMAN	olfactory receptor, family 5, subfamily L, member 1	21						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(4)|liver(4)|lung(36)|ovary(2)|pancreas(1)|prostate(5)|skin(9)|stomach(4)|upper_aerodigestive_tract(3)	78		all_epithelial(135;0.208)				CAGATGTCCCTGAGTTGAGAG	0.473																																						ENST00000333973.2																			0				NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(4)|liver(4)|lung(36)|ovary(2)|pancreas(1)|prostate(5)|skin(9)|stomach(4)|upper_aerodigestive_tract(3)	78						c.(61-63)ccT>ccA		olfactory receptor, family 5, subfamily L, member 1							226	209	215					11																	55579005		2200	4293	6493	SO:0001819	synonymous_variant	219437				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55579005T>A	AB065780	CCDS31509.1	11q11	2012-08-09			ENSG00000186117	ENSG00000186117		"GPCR / Class A : Olfactory receptors"	8350	protein-coding gene	gene with protein product							Standard	NM_001004738		Approved	OST262	uc001nhw.1	Q8NGL2	OTTHUMG00000166810	ENST00000333973.2:c.63T>A	11.37:g.55579005T>A							p.P21P	NM_001004738.1	NP_001004738.1	Q8NGL2	OR5L1_HUMAN			1	152	+		all_epithelial(135;0.208)	21					B2RNK6|Q6IFD0	Silent	SNP	ENST00000333973.2	37	c.63T>A	CCDS31509.1																																																																																				0.473	OR5L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391514.1	NM_001004738		48	118	0	0	0	1	0	48	118					A	55579005	T	A	55579005	2	1	277	1	0	0	0	0	0	0	0	1	11170	1567	55	5		5	OR5L1	11	55579005	Silent	SNP	T	TCGA-J4-A83J-01A-11D-A364-08		55579005	79427511	43	12824											
OR10Q1	219960	broad.mit.edu	37	chr11	57995629	57995629	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcaggtggagaaggcccggCggcggccctcggcagaacgg	8	2	19	12	5	0	2	0	0	0	2	1	3	0	2	2	8	2	2	2	8	2	0			TCGA-J4-A83J-01A-11D-A364-08	TCGA-J4-A83J-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26425bd7-6764-40d8-bfc9-fe8738359cc2	1da444be-497e-4cd9-96a8-1643c6f3d878	g.chr11:57995629C>T	ENST00000316770.2	-	1	761	c.719G>A	c.(718-720)cGc>cAc	p.R240H		NM_001004471.2	NP_001004471.1	Q8NGQ4	O10Q1_HUMAN	olfactory receptor, family 10, subfamily Q, member 1	240						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)	35		Breast(21;0.0589)				GAAGGCCCGGCGGCGGCCCTC	0.632																																						ENST00000316770.2																			0				autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)	35						c.(718-720)cGc>cAc		olfactory receptor, family 10, subfamily Q, member 1							56	52	53					11																	57995629		2201	4295	6496	SO:0001583	missense	219960				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:57995629C>T	AB065735	CCDS31547.1	11q12.1	2012-08-09			ENSG00000180475	ENSG00000180475		"GPCR / Class A : Olfactory receptors"	15134	protein-coding gene	gene with protein product							Standard	NM_001004471		Approved		uc010rkd.2	Q8NGQ4	OTTHUMG00000167542	ENST00000316770.2:c.719G>A	11.37:g.57995629C>T	ENSP00000314324:p.Arg240His						p.R240H	NM_001004471.2	NP_001004471.1	Q8NGQ4	O10Q1_HUMAN			1	761	-		Breast(21;0.0589)	240					Q6IFG4	Missense_Mutation	SNP	ENST00000316770.2	37	c.719G>A	CCDS31547.1	.	.	.	.	.	.	.	.	.	.	C	12.50	1.957098	0.34565	.	.	ENSG00000180475	ENST00000316770	T	0.00034	8.87	4.84	1.13	0.20643	GPCR, rhodopsin-like superfamily (1);	0.392096	0.19178	N	0.120769	T	0.00109	0.0003	N	0.16478	0.41	0.20638	N	0.999874	D	0.55385	0.971	P	0.49192	0.602	T	0.52457	-0.8573	10	0.30854	T	0.27	.	7.8127	0.29241	0.0:0.4201:0.0:0.5799	.	240	Q8NGQ4	O10Q1_HUMAN	H	240	ENSP00000314324:R240H	ENSP00000314324:R240H	R	-	2	0	OR10Q1	57752205	0.000000	0.05858	0.701000	0.30321	0.894000	0.52154	-1.055000	0.03493	0.378000	0.24764	-0.232000	0.12228	CGC		0.632	OR10Q1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394706.1	NM_001004471		7	46	0	0	0	1	0	7	46					T	57995629	C	T	57995629	3	4	277	1	0	0	0	0	1	0	0	0	10916	768	27	1	244	1	OR10Q1	11	57995629	Missense_Mutation	SNP	C	TCGA-J4-A83J-01A-11D-A364-08	2416624	57995629	77010887	44	12825											
CHD4	1108	broad.mit.edu	37	chr12	6702291	6702291	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttcagccgatgggcttcaTccacgatgaggcaggcccaa	9	8	11	13	2	3	1	2	1	1	0	4	3	4	1	3	3	1	2	3	3	1	2			TCGA-J4-A83J-01A-11D-A364-08	TCGA-J4-A83J-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26425bd7-6764-40d8-bfc9-fe8738359cc2	1da444be-497e-4cd9-96a8-1643c6f3d878	g.chr12:6702291T>C	ENST00000357008.2	-	17	2781	c.2618A>G	c.(2617-2619)gAt>gGt	p.D873G	CHD4_ENST00000544040.1_Missense_Mutation_p.D866G|CHD4_ENST00000544484.1_Missense_Mutation_p.D870G|CHD4_ENST00000309577.6_Missense_Mutation_p.D873G	NM_001273.2	NP_001264.2	Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	873	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				ATP-dependent chromatin remodeling (GO:0043044)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|spindle assembly (GO:0051225)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|NuRD complex (GO:0016581)|protein complex (GO:0043234)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|RNA polymerase II repressing transcription factor binding (GO:0001103)|zinc ion binding (GO:0008270)			central_nervous_system(2)	2						ATGGGCTTCATCCACGATGAG	0.473																																					Colon(32;586 792 4568 16848 45314)	ENST00000309577.6																			0				central_nervous_system(2)	2						c.(2617-2619)gAt>gGt		chromodomain helicase DNA binding protein 4							101	91	95					12																	6702291		2203	4300	6503	SO:0001583	missense	1108				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding	g.chr12:6702291T>C	X86691	CCDS8552.1	12p13	2013-01-28				ENSG00000111642		"Zinc fingers, PHD-type"	1919	protein-coding gene	gene with protein product		603277				7575689, 8843877	Standard	XM_006718958		Approved	Mi-2b, Mi2-BETA	uc001qpo.3	Q14839		ENST00000357008.2:c.2618A>G	12.37:g.6702291T>C	ENSP00000349508:p.Asp873Gly					CHD4_ENST00000544484.1_Missense_Mutation_p.D870G|CHD4_ENST00000544040.1_Missense_Mutation_p.D866G|CHD4_ENST00000357008.2_Missense_Mutation_p.D873G	p.D873G			Q14839	CHD4_HUMAN			17	2781	-			873			Helicase ATP-binding.		Q8IXZ5	Missense_Mutation	SNP	ENST00000357008.2	37	c.2618A>G	CCDS8552.1	.	.	.	.	.	.	.	.	.	.	T	25.6	4.653904	0.88056	.	.	ENSG00000111642	ENST00000544484;ENST00000544040;ENST00000309577;ENST00000357008;ENST00000537464	D;D;D;D	0.99857	-7.22;-7.22;-7.22;-7.22	5.3	5.3	0.74995	DEAD-like helicase (2);DNA/RNA helicase, ATP-dependent, DEAH-box type, conserved site (1);SNF2-related (1);	0.000000	0.85682	D	0.000000	D	0.99928	0.9967	H	0.99609	4.655	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.996	D;D;D	0.91635	0.997;0.999;0.993	D	0.95831	0.8858	10	0.87932	D	0	-6.8555	15.2641	0.73649	0.0:0.0:0.0:1.0	.	873;873;866	Q14839-2;Q14839;F5GWX5	.;CHD4_HUMAN;.	G	870;866;873;873;847	ENSP00000440392:D870G;ENSP00000440542:D866G;ENSP00000312419:D873G;ENSP00000349508:D873G	ENSP00000312419:D873G	D	-	2	0	CHD4	6572552	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	7.671000	0.83941	2.013000	0.59113	0.383000	0.25322	GAT		0.473	CHD4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001273		7	44	0	0	0	1	0	7	44					C	6702291	T	C	6702291	3	2	277	1	0	0	0	0	1	0	0	0	3327	1435	50	4	3216	4	CHD4	12	6702291	Missense_Mutation	SNP	T	TCGA-J4-A83J-01A-11D-A364-08		6702291	127149604	45	12826											
IRAK3	11213	broad.mit.edu	37	chr12	66620595	66620595	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atacatgagaaatggaacacTttttgacagattgcagtgtg	14	12	10	5	0	0	3	0	2	0	2	0	5	0	4	0	1	3	1	0	1	3	4			TCGA-J4-A83J-01A-11D-A364-08	TCGA-J4-A83J-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26425bd7-6764-40d8-bfc9-fe8738359cc2	1da444be-497e-4cd9-96a8-1643c6f3d878	g.chr12:66620595T>A	ENST00000261233.4	+	7	1167	c.746T>A	c.(745-747)cTt>cAt	p.L249H	IRAK3_ENST00000457197.2_Missense_Mutation_p.L188H	NM_007199.2	NP_009130.2			interleukin-1 receptor-associated kinase 3											breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(28;0.0203)		AATGGAACACTTTTTGACAGA	0.418																																						ENST00000261233.4																			0				breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	36						c.(745-747)cTt>cAt		interleukin-1 receptor-associated kinase 3							167	150	156					12																	66620595		2203	4300	6503	SO:0001583	missense	0				interleukin-1-mediated signaling pathway|MyD88-dependent toll-like receptor signaling pathway|negative regulation of innate immune response|negative regulation of interleukin-12 production|negative regulation of interleukin-6 production|negative regulation of macrophage cytokine production|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein catabolic process|negative regulation of protein complex disassembly|negative regulation of toll-like receptor signaling pathway|negative regulation of tumor necrosis factor production|positive regulation of macrophage tolerance induction|positive regulation of NF-kappaB transcription factor activity|response to exogenous dsRNA|response to lipopolysaccharide|response to peptidoglycan	cytoplasm|nucleus	ATP binding|magnesium ion binding|protein heterodimerization activity|protein homodimerization activity|protein serine/threonine kinase activity	g.chr12:66620595T>A	AF113136	CCDS8975.1, CCDS44937.1	12q13.13	2008-05-02			ENSG00000090376	ENSG00000090376			17020	protein-coding gene	gene with protein product		604459				10383454	Standard	NM_001142523		Approved	IRAK-M	uc001sth.3	Q9Y616	OTTHUMG00000169002	ENST00000261233.4:c.746T>A	12.37:g.66620595T>A	ENSP00000261233:p.Leu249His					IRAK3_ENST00000457197.2_Missense_Mutation_p.L188H	p.L249H	NM_007199.2	NP_009130.2	Q9Y616	IRAK3_HUMAN		GBM - Glioblastoma multiforme(28;0.0203)	7	1167	+			249			Protein kinase.			Missense_Mutation	SNP	ENST00000261233.4	37	c.746T>A	CCDS8975.1	.	.	.	.	.	.	.	.	.	.	T	14.83	2.653817	0.47362	.	.	ENSG00000090376	ENST00000261233;ENST00000457197	T;T	0.71222	-0.55;-0.55	5.7	5.7	0.88788	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	D	0.000002	D	0.89770	0.6811	H	0.98333	4.205	0.54753	D	0.99998	D;D	0.89917	1.0;1.0	D;D	0.78314	0.991;0.99	D	0.92946	0.6376	9	.	.	.	-22.0585	12.6654	0.56840	0.0:0.0:0.0:1.0	.	188;249	Q9Y616-2;Q9Y616	.;IRAK3_HUMAN	H	249;188	ENSP00000261233:L249H;ENSP00000409852:L188H	.	L	+	2	0	IRAK3	64906862	1.000000	0.71417	0.997000	0.53966	0.055000	0.15305	4.472000	0.60189	2.308000	0.77769	0.533000	0.62120	CTT		0.418	IRAK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401908.1			11	21	0	0	0	1	0	11	21					A	66620595	T	A	66620595	3	1	277	1	0	0	0	0	1	0	0	0	7824	1609	56	5	772	5	IRAK3	12	66620595	Missense_Mutation	SNP	T	TCGA-J4-A83J-01A-11D-A364-08	59918304	66620595	67231300	46	12827											
SGK269	79834	broad.mit.edu	37	chr15	77473916	77473918	+	In_Frame_Del	DEL	TTG	TTG	-																															cttcatcatcttcattattaTtgttaagtggtttctgactc																										TCGA-J4-A83J-01A-11D-A364-08	TCGA-J4-A83J-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26425bd7-6764-40d8-bfc9-fe8738359cc2	1da444be-497e-4cd9-96a8-1643c6f3d878	g.chr15:77473916_77473918delTTG	ENST00000560626.2	-	4	826_828	c.351_353delCAA	c.(349-354)aacaat>aat	p.117_118NN>N	PEAK1_ENST00000312493.4_In_Frame_Del_p.117_118NN>N|PEAK1_ENST00000558305.1_In_Frame_Del_p.117_118NN>N			Q9H792	PEAK1_HUMAN	pseudopodium-enriched atypical kinase 1	117	Poly-Asn.				cell migration (GO:0016477)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein autophosphorylation (GO:0046777)|substrate adhesion-dependent cell spreading (GO:0034446)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)										TTCATTATTATTGTTAAGTGGTT	0.389																																						ENST00000560626.2																			0											c.(349-354)aat>aa		pseudopodium-enriched atypical kinase 1																																				SO:0001651	inframe_deletion	79834				cell migration|protein autophosphorylation|substrate adhesion-dependent cell spreading	actin cytoskeleton|cytoplasm|focal adhesion	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding	g.chr15:77473916_77473918delTTG		CCDS42062.1	15q24.3	2013-09-27			ENSG00000173517	ENSG00000173517			29431	protein-coding gene	gene with protein product		614248				16879967, 20534451	Standard	NM_024776		Approved	KIAA2002, sgk269		Q9H792	OTTHUMG00000172618	ENST00000560626.2:c.351_353delCAA	15.37:g.77473916_77473918delTTG	ENSP00000452796:p.Asn120del					PEAK1_ENST00000312493.4_In_Frame_Del_p.NN119del|PEAK1_ENST00000558305.1_In_Frame_Del_p.NN119del	p.NN119del			Q9H792	PEAK1_HUMAN			4	826_828	-			119			Poly-Asn.		Q6ZS78|Q8NAZ4|Q8NCM3|Q8TEG7	In_Frame_Del	DEL	ENST00000560626.2	37	c.351_353delCAA	CCDS42062.1																																																																																				0.389	PEAK1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419483.3			35	131						35	131	---	---	---	---	-	77473918	TTG	-	77473916	7	5	277	1	0	1	0	1	0	0	0	0	14211	1493	52	0	4903	0	SGK269	15	77473916	In_Frame_Del	DEL	TTG	TCGA-J4-A83J-01A-11D-A364-08		77473916	25057476	47	12828											
KIAA1199	57214	broad.mit.edu	37	chr15	81224300	81224300	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggagggccggcacaccagcGccctggccttccgcctgaat	6	6	13	16	3	0	1	0	1	0	0	1	2	1	2	6	4	1	1	6	4	1	1			TCGA-J4-A83J-01A-11D-A364-08	TCGA-J4-A83J-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26425bd7-6764-40d8-bfc9-fe8738359cc2	1da444be-497e-4cd9-96a8-1643c6f3d878	g.chr15:81224300G>A	ENST00000394685.3	+	22	3132	c.2713G>A	c.(2713-2715)Gcc>Acc	p.A905T	KIAA1199_ENST00000356249.5_Missense_Mutation_p.A905T|KIAA1199_ENST00000220244.3_Missense_Mutation_p.A905T|RP11-351M8.2_ENST00000560873.1_RNA			Q8WUJ3	CEMIP_HUMAN		905					hyaluronan catabolic process (GO:0030214)|positive regulation of cell migration (GO:0030335)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of protein kinase C activity (GO:1900020)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|sensory perception of sound (GO:0007605)	clathrin-coated vesicle membrane (GO:0030665)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	clathrin heavy chain binding (GO:0032050)|ER retention sequence binding (GO:0046923)|hyaluronic acid binding (GO:0005540)|hyalurononglucosaminidase activity (GO:0004415)			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						GCACACCAGCGCCCTGGCCTT	0.552																																						ENST00000394685.3																			0				breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						c.(2713-2715)Gcc>Acc		KIAA1199							86	97	93					15																	81224300		2203	4300	6503	SO:0001583	missense	57214							g.chr15:81224300G>A																												ENST00000394685.3:c.2713G>A	15.37:g.81224300G>A	ENSP00000378177:p.Ala905Thr					RP11-351M8.2_ENST00000560873.1_RNA|KIAA1199_ENST00000220244.3_Missense_Mutation_p.A905T|KIAA1199_ENST00000356249.5_Missense_Mutation_p.A905T	p.A905T			Q8WUJ3	K1199_HUMAN			22	3132	+			905					Q6L9J5|Q9H1K5|Q9NPN9|Q9ULM1	Missense_Mutation	SNP	ENST00000394685.3	37	c.2713G>A	CCDS10315.1	.	.	.	.	.	.	.	.	.	.	G	35	5.540067	0.96474	.	.	ENSG00000103888	ENST00000220244;ENST00000394685;ENST00000356249;ENST00000394683	T;T;T	0.62788	-0.0;-0.0;-0.0	5.2	5.2	0.72013	Pectin lyase fold/virulence factor (1);	0.060118	0.64402	D	0.000004	T	0.76905	0.4053	M	0.83774	2.66	0.53688	D	0.999976	D	0.69078	0.997	P	0.54238	0.746	T	0.80367	-0.1412	10	0.59425	D	0.04	-40.4005	18.9274	0.92550	0.0:0.0:1.0:0.0	.	905	Q8WUJ3	K1199_HUMAN	T	905	ENSP00000220244:A905T;ENSP00000378177:A905T;ENSP00000348583:A905T	ENSP00000220244:A905T	A	+	1	0	KIAA1199	79011355	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	8.736000	0.91554	2.709000	0.92574	0.563000	0.77884	GCC		0.552	KIAA1199-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000291389.1			36	81	0	0	0	1	0	36	81					A	81224300	G	A	81224300	3	1	277	1	0	0	0	0	1	0	0	0	8213	1087	38	1	2791	1	KIAA1199	15	81224300	Missense_Mutation	SNP	G	TCGA-J4-A83J-01A-11D-A364-08	3750384	81224300	21307092	48	12829											
BTBD12	84464	broad.mit.edu	37	chr16	3658512	3658512	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgtgctgtttcccggagcaCaggtggatctggagcagagg	7	10	16	8	1	1	1	0	0	1	1	2	4	2	4	1	5	3	4	1	5	0	2			TCGA-J4-A83J-01A-11D-A364-08	TCGA-J4-A83J-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26425bd7-6764-40d8-bfc9-fe8738359cc2	1da444be-497e-4cd9-96a8-1643c6f3d878	g.chr16:3658512C>G	ENST00000294008.3	-	2	1094	c.454G>C	c.(454-456)Gtg>Ctg	p.V152L		NM_032444.2	NP_115820.2	Q8IY92	SLX4_HUMAN	SLX4 structure-specific endonuclease subunit	152	Interaction with SLX4IP, ERCC4 and MSH2.				DNA catabolic process, endonucleolytic (GO:0000737)|DNA double-strand break processing involved in repair via single-strand annealing (GO:0010792)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|double-strand break repair via homologous recombination (GO:0000724)|nucleotide-excision repair (GO:0006289)|positive regulation of catalytic activity (GO:0043085)|response to intra-S DNA damage checkpoint signaling (GO:0072429)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|Slx1-Slx4 complex (GO:0033557)	5'-flap endonuclease activity (GO:0017108)|enzyme activator activity (GO:0008047)			breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	76						TCCCGGAGCACAGGTGGATCT	0.502								Direct reversal of damage																														ENST00000294008.3																			0				breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	76						c.(454-456)Gtg>Ctg	Direct reversal of damage	SLX4 structure-specific endonuclease subunit							105	105	105					16																	3658512		2197	4300	6497	SO:0001583	missense	84464				DNA double-strand break processing involved in repair via single-strand annealing|double-strand break repair via homologous recombination|nucleotide-excision repair	Slx1-Slx4 complex	enzyme activator activity|protein binding	g.chr16:3658512C>G	AB058687	CCDS10506.2	16p13.3	2014-09-17	2013-06-05	2010-09-13	ENSG00000188827	ENSG00000188827		"Fanconi anemia, complementation groups", "BTB/POZ domain containing"	23845	protein-coding gene	gene with protein product	"Fanconi anemia, complementation group P"	613278	"BTB (POZ) domain containing 12", "SLX4 structure-specific endonuclease subunit homolog (S. cerevisiae)"	BTBD12		11347906, 19595721	Standard	NM_032444		Approved	KIAA1784, KIAA1987, FANCP	uc002cvp.2	Q8IY92	OTTHUMG00000074089	ENST00000294008.3:c.454G>C	16.37:g.3658512C>G	ENSP00000294008:p.Val152Leu						p.V152L	NM_032444.2	NP_115820.2	Q8IY92	SLX4_HUMAN			2	1094	-			152			Interaction with C20orf94, ERCC4 and MSH2.		Q69YT8|Q8TF15|Q96JP1	Missense_Mutation	SNP	ENST00000294008.3	37	c.454G>C	CCDS10506.2	.	.	.	.	.	.	.	.	.	.	C	13.88	2.369452	0.42003	.	.	ENSG00000188827	ENST00000294008	T	0.01209	5.17	5.27	-0.18	0.13295	.	1.212500	0.06359	N	0.711260	T	0.00666	0.0022	N	0.02011	-0.69	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.46762	-0.9168	10	0.56958	D	0.05	.	5.2138	0.15332	0.0:0.466:0.2826:0.2514	.	152	Q8IY92	SLX4_HUMAN	L	152	ENSP00000294008:V152L	ENSP00000294008:V152L	V	-	1	0	SLX4	3598513	0.000000	0.05858	0.001000	0.08648	0.634000	0.38068	-0.528000	0.06193	0.048000	0.15891	-0.156000	0.13503	GTG		0.502	SLX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157301.3	NM_032444		19	39	0	0	0	1	0	19	39					G	3658512	C	G	3658512	3	3	277	1	0	0	0	0	1	0	0	0	1540	478	17	5	5106	5	BTBD12	16	3658512	Missense_Mutation	SNP	C	TCGA-J4-A83J-01A-11D-A364-08		3658512	86696241	49	12830											
DNAH3	55567	broad.mit.edu	37	chr16	21082111	21082111	+	Frame_Shift_Del	DEL	T	T	-																															cacgtgatcatcaagtagcaTttgaatgtcatcaattgcac																										TCGA-J4-A83J-01A-11D-A364-08	TCGA-J4-A83J-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26425bd7-6764-40d8-bfc9-fe8738359cc2	1da444be-497e-4cd9-96a8-1643c6f3d878	g.chr16:21082111delT	ENST00000261383.3	-	22	3120	c.3121delA	c.(3121-3123)atgfs	p.M1041fs	DNAH3_ENST00000415178.1_Frame_Shift_Del_p.M1041fs	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	1041	Stem. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		TCAAGTAGCATTTGAATGTCA	0.408																																						ENST00000261383.3																			0				NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202						c.(3121-3123)tgfs		dynein, axonemal, heavy chain 3							205	179	188					16																	21082111		2201	4300	6501	SO:0001589	frameshift_variant	55567				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr16:21082111delT	U83574	CCDS10594.1	16p12.2	2008-08-01	2006-09-04		ENSG00000158486	ENSG00000158486		"Axonemal dyneins"	2949	protein-coding gene	gene with protein product		603334	"dynein, axonemal, heavy polypeptide 3"			9256245, 9373155	Standard	NM_017539		Approved	Dnahc3b, DLP3, Hsadhc3, DKFZp434N074	uc010vbe.2	Q8TD57	OTTHUMG00000090677	ENST00000261383.3:c.3121delA	16.37:g.21082111delT	ENSP00000261383:p.Met1041fs					DNAH3_ENST00000415178.1_Frame_Shift_Del_p.M1041fs	p.M1041fs	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN		GBM - Glioblastoma multiforme(48;0.207)	22	3120	-			1041			Stem (By similarity).		O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Frame_Shift_Del	DEL	ENST00000261383.3	37	c.3121delA	CCDS10594.1																																																																																				0.408	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207361.1	NM_017539		30	77						30	77	---	---	---	---	-	21082111	T	-	21082111	7	5	277	1	0	1	0	1	0	0	0	0	4603	1493	52	0	9392	0	DNAH3	16	21082111	Frame_Shift_Del	DEL	T	TCGA-J4-A83J-01A-11D-A364-08	17423599	21082111	69272642	50	12831											
COG7	91949	broad.mit.edu	37	chr16	23436137	23436137	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtggcgtcgtagaactccagCagcctggtgagctcctgctc	6	9	13	13	2	0	2	0	1	0	1	4	2	2	2	3	2	5	4	3	2	2	1			TCGA-J4-A83J-01A-11D-A364-08	TCGA-J4-A83J-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26425bd7-6764-40d8-bfc9-fe8738359cc2	1da444be-497e-4cd9-96a8-1643c6f3d878	g.chr16:23436137C>A	ENST00000307149.5	-	7	1127	c.942G>T	c.(940-942)ctG>ctT	p.L314L		NM_153603.3	NP_705831.1	P83436	COG7_HUMAN	component of oligomeric golgi complex 7	314					intracellular protein transport (GO:0006886)|protein glycosylation (GO:0006486)|protein localization to Golgi apparatus (GO:0034067)|protein localization to organelle (GO:0033365)|protein stabilization (GO:0050821)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	Golgi apparatus (GO:0005794)|Golgi transport complex (GO:0017119)|membrane (GO:0016020)				breast(1)|central_nervous_system(1)|endometrium(7)|large_intestine(9)|liver(1)|lung(7)|urinary_tract(1)	27				GBM - Glioblastoma multiforme(48;0.0401)		AGAACTCCAGCAGCCTGGTGA	0.637																																						ENST00000307149.5																			0				breast(1)|central_nervous_system(1)|endometrium(7)|large_intestine(9)|liver(1)|lung(7)|urinary_tract(1)	27						c.(940-942)ctG>ctT		component of oligomeric golgi complex 7							87	91	90					16																	23436137		2197	4300	6497	SO:0001819	synonymous_variant	91949				intracellular protein transport|protein glycosylation|protein localization in Golgi apparatus|protein stabilization|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane|Golgi transport complex	protein binding	g.chr16:23436137C>A	AF070568	CCDS10610.1	16p12.2	2008-02-05			ENSG00000168434	ENSG00000168434		"Components of oligomeric golgi complex"	18622	protein-coding gene	gene with protein product		606978				11980916	Standard	NM_153603		Approved		uc002dlo.3	P83436	OTTHUMG00000094807	ENST00000307149.5:c.942G>T	16.37:g.23436137C>A							p.L314L	NM_153603.3	NP_705831.1	P83436	COG7_HUMAN		GBM - Glioblastoma multiforme(48;0.0401)	7	1127	-			314					Q6UWU7	Silent	SNP	ENST00000307149.5	37	c.942G>T	CCDS10610.1																																																																																				0.637	COG7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211625.1			24	59	1	0	2.21704e-12	1	2.44867e-12	24	59					A	23436137	C	A	23436137	2	1	277	1	0	0	0	0	0	0	0	1	3663	697	25	5		5	COG7	16	23436137	Silent	SNP	C	TCGA-J4-A83J-01A-11D-A364-08	2354026	23436137	66918616	51	12832											
ZNF688	146542	broad.mit.edu	37	chr16	30581273	30581273	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	aagatgtctgggtagtgccgGaagagcacaggcgggtcccg	9	6	17	9	3	1	2	0	0	1	2	2	3	2	3	2	4	2	2	2	4	3	1			TCGA-J4-A83J-01A-11D-A364-08	TCGA-J4-A83J-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26425bd7-6764-40d8-bfc9-fe8738359cc2	1da444be-497e-4cd9-96a8-1643c6f3d878	g.chr16:30581273G>A	ENST00000223459.6	-	3	1899	c.795C>T	c.(793-795)ttC>ttT	p.F265F	ZNF688_ENST00000395219.1_Silent_p.F251F|AC002310.7_ENST00000492040.1_RNA|AC002310.7_ENST00000486926.1_RNA	NM_145271.3	NP_660314.1	P0C7X2	ZN688_HUMAN	zinc finger protein 688	265					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|large_intestine(2)|lung(2)|ovary(1)	8						GGTAGTGCCGGAAGAGCACAG	0.711																																						ENST00000223459.6																			0				endometrium(3)|large_intestine(2)|lung(2)|ovary(1)	8						c.(793-795)ttC>ttT		zinc finger protein 688							28	31	30					16																	30581273		2042	4084	6126	SO:0001819	synonymous_variant	146542				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:30581273G>A	AK122680	CCDS10684.1	16p11.2	2013-01-08			ENSG00000229809	ENSG00000229809		"Zinc fingers, C2H2-type", "-"	30489	protein-coding gene	gene with protein product						10493829	Standard	XM_005255139		Approved		uc002dys.2	P0C7X2	OTTHUMG00000132408	ENST00000223459.6:c.795C>T	16.37:g.30581273G>A						ZNF688_ENST00000395219.1_Silent_p.F251F	p.F265F	NM_145271.3	NP_660314.1	P0C7X2	ZN688_HUMAN			3	1899	-			265					A8MV39|B3KV51|O75701|Q8IW91|Q8WV14|Q96MN0	Silent	SNP	ENST00000223459.6	37	c.795C>T	CCDS10684.1																																																																																				0.711	ZNF688-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255544.2	NM_145271		15	33	0	0	0	1	0	15	33					A	30581273	G	A	30581273	2	1	277	1	0	0	0	0	0	0	0	1	18090	1165	41	3		3	ZNF688	16	30581273	Silent	SNP	G	TCGA-J4-A83J-01A-11D-A364-08	7145136	30581273	59773480	52	12833											
NOD2	64127	broad.mit.edu	37	chr16	50733414	50733414	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cccaggttgtgaaatgtgctCgcaggaggcttttcaggcac	8	10	13	10	1	1	1	1	1	0	0	2	2	1	2	1	4	1	5	1	4	1	3			TCGA-J4-A83J-01A-11D-A364-08	TCGA-J4-A83J-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26425bd7-6764-40d8-bfc9-fe8738359cc2	1da444be-497e-4cd9-96a8-1643c6f3d878	g.chr16:50733414C>T	ENST00000300589.2	+	2	194	c.89C>T	c.(88-90)tCg>tTg	p.S30L	NOD2_ENST00000526417.2_3'UTR	NM_022162.1	NP_071445.1	Q9HC29	NOD2_HUMAN	nucleotide-binding oligomerization domain containing 2	30	CARD 1. {ECO:0000255|PROSITE- ProRule:PRU00046}.				activation of MAPK activity (GO:0000187)|activation of MAPK activity involved in innate immune response (GO:0035419)|cellular response to muramyl dipeptide (GO:0071225)|cellular response to peptidoglycan (GO:0071224)|cytokine production involved in immune response (GO:0002367)|defense response (GO:0006952)|defense response to bacterium (GO:0042742)|defense response to Gram-positive bacterium (GO:0050830)|detection of bacterium (GO:0016045)|detection of biotic stimulus (GO:0009595)|detection of muramyl dipeptide (GO:0032498)|immunoglobulin production involved in immunoglobulin mediated immune response (GO:0002381)|innate immune response (GO:0045087)|innate immune response in mucosa (GO:0002227)|intracellular signal transduction (GO:0035556)|JNK cascade (GO:0007254)|macrophage inflammatory protein-1 alpha production (GO:0071608)|maintenance of gastrointestinal epithelium (GO:0030277)|microglial cell activation involved in immune response (GO:0002282)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of inflammatory response to antigenic stimulus (GO:0002862)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of interleukin-18 production (GO:0032701)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of macrophage apoptotic process (GO:2000110)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of T cell mediated immunity (GO:0002710)|negative regulation of toll-like receptor 2 signaling pathway (GO:0034136)|negative regulation of tumor necrosis factor production (GO:0032720)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing 2 signaling pathway (GO:0070431)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of B cell activation (GO:0050871)|positive regulation of biosynthetic process of antibacterial peptides active against Gram-positive bacteria (GO:0006965)|positive regulation of dendritic cell antigen processing and presentation (GO:0002606)|positive regulation of dendritic cell cytokine production (GO:0002732)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gamma-delta T cell activation (GO:0046645)|positive regulation of humoral immune response mediated by circulating immunoglobulin (GO:0002925)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-1 beta production (GO:0032731)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-17 production (GO:0032740)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of JNK cascade (GO:0046330)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of oxidoreductase activity (GO:0051353)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phagocytosis (GO:0050766)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of prostaglandin-E synthase activity (GO:2000363)|positive regulation of prostaglandin-endoperoxide synthase activity (GO:0060585)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of stress-activated MAPK cascade (GO:0032874)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of type 2 immune response (GO:0002830)|protein oligomerization (GO:0051259)|regulation of inflammatory response (GO:0050727)|regulation of neutrophil chemotaxis (GO:0090022)|response to exogenous dsRNA (GO:0043330)|response to lipopolysaccharide (GO:0032496)|response to muramyl dipeptide (GO:0032495)|response to nutrient (GO:0007584)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|vesicle (GO:0031982)	ATP binding (GO:0005524)|CARD domain binding (GO:0050700)|enzyme binding (GO:0019899)|muramyl dipeptide binding (GO:0032500)|peptidoglycan binding (GO:0042834)|protein kinase binding (GO:0019901)			cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(30)|ovary(3)|skin(3)	52		all_cancers(37;0.0156)				GAAATGTGCTCGCAGGAGGCT	0.612																																						ENST00000300589.2																			0				cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(30)|ovary(3)|skin(3)	52						c.(88-90)tCg>tTg		nucleotide-binding oligomerization domain containing 2							114	121	119					16																	50733414		2198	4300	6498	SO:0001583	missense	64127				activation of MAPK activity involved in innate immune response|cytokine production involved in immune response|detection of bacterium|detection of muramyl dipeptide|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of macrophage apoptosis|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of B cell activation|positive regulation of dendritic cell antigen processing and presentation|positive regulation of epithelial cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of gamma-delta T cell activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-10 production|positive regulation of interleukin-17 production|positive regulation of interleukin-6 production|positive regulation of JNK cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of Notch signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of prostaglandin-E synthase activity|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of stress-activated MAPK cascade|positive regulation of tumor necrosis factor production|positive regulation of type 2 immune response|protein oligomerization|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cell surface|cytosol|plasma membrane|vesicle	ATP binding|CARD domain binding|muramyl dipeptide binding|protein kinase binding	g.chr16:50733414C>T	AF178930	CCDS10746.1	16q12	2014-09-17	2006-12-08	2006-12-08	ENSG00000167207	ENSG00000167207		"Nucleotide-binding domain and leucine rich repeat containing"	5331	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 2", "NOD-like receptor C2", "NLR family, CARD domain containing 2"	605956	"caspase recruitment domain family, member 15"	IBD1, CARD15		7809109, 8587604	Standard	XM_005256084		Approved	BLAU, CD, PSORAS1, CLR16.3, NLRC2	uc002egm.1	Q9HC29	OTTHUMG00000133171	ENST00000300589.2:c.89C>T	16.37:g.50733414C>T	ENSP00000300589:p.Ser30Leu					NOD2_ENST00000526417.2_3'UTR	p.S30L	NM_022162.1	NP_071445.1	Q9HC29	NOD2_HUMAN			2	194	+		all_cancers(37;0.0156)	30			CARD 1.		E2JEQ6|Q96RH5|Q96RH6|Q96RH8	Missense_Mutation	SNP	ENST00000300589.2	37	c.89C>T	CCDS10746.1	.	.	.	.	.	.	.	.	.	.	C	15.77	2.930981	0.52866	.	.	ENSG00000167207	ENST00000526417;ENST00000531674;ENST00000300589	T;T	0.70045	0.35;-0.45	5.52	5.52	0.82312	Caspase Recruitment (2);	0.715003	0.12529	N	0.460966	T	0.53465	0.1798	N	0.22421	0.69	0.22171	N	0.999315	B	0.31837	0.342	B	0.22753	0.041	T	0.52779	-0.8530	10	0.62326	D	0.03	.	14.9482	0.71050	0.0:1.0:0.0:0.0	.	30	Q9HC29	NOD2_HUMAN	L	3;3;30	ENSP00000431681:S3L;ENSP00000300589:S30L	ENSP00000300589:S30L	S	+	2	0	NOD2	49290915	0.090000	0.21635	0.655000	0.29622	0.991000	0.79684	2.644000	0.46613	2.617000	0.88574	0.655000	0.94253	TCG		0.612	NOD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256876.2	NM_022162		4	133	0	0	0	1	0	4	133					T	50733414	C	T	50733414	3	4	277	1	0	0	0	0	1	0	0	0	10517	893	31	2	95	2	NOD2	16	50733414	Missense_Mutation	SNP	C	TCGA-J4-A83J-01A-11D-A364-08	20152141	50733414	39621339	53	12834											
MED24	9862	broad.mit.edu	37	chr17	38182486	38182486	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcatctgcagcgacttctcAcgctcatccagccccagcat	9	9	6	17	2	4	0	3	0	2	0	6	1	5	0	3	0	4	3	3	0	0	1			TCGA-J4-A83J-01A-11D-A364-08	TCGA-J4-A83J-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26425bd7-6764-40d8-bfc9-fe8738359cc2	1da444be-497e-4cd9-96a8-1643c6f3d878	g.chr17:38182486A>T	ENST00000394128.2	-	19	1989	c.1908T>A	c.(1906-1908)cgT>cgA	p.R636R	MED24_ENST00000394127.2_Silent_p.R623R|MED24_ENST00000394126.1_Silent_p.R661R|SNORD124_ENST00000459577.1_RNA|MED24_ENST00000356271.3_Silent_p.R623R|MED24_ENST00000501516.3_Silent_p.R655R	NM_014815.3	NP_055630.2	O75448	MED24_HUMAN	mediator complex subunit 24	636					androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of transcription, DNA-templated (GO:0045893)|protein heterooligomerization (GO:0051291)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	histone acetyltransferase activity (GO:0004402)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|receptor activity (GO:0004872)|RNA polymerase II transcription cofactor activity (GO:0001104)|thyroid hormone receptor binding (GO:0046966)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			autonomic_ganglia(1)|breast(2)|endometrium(9)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	41	Colorectal(19;0.000442)					GCGACTTCTCACGCTCATCCA	0.552																																						ENST00000394126.1																			0				autonomic_ganglia(1)|breast(2)|endometrium(9)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	41						c.(1981-1983)cgT>cgA		mediator complex subunit 24							149	133	138					17																	38182486		2203	4300	6503	SO:0001819	synonymous_variant	9862				androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	g.chr17:38182486A>T	AF055995	CCDS11359.1, CCDS42315.1	17q21.2	2007-07-30	2007-07-30	2007-07-30	ENSG00000008838	ENSG00000008838			22963	protein-coding gene	gene with protein product		607000	"thyroid hormone receptor associated protein 4", "cofactor required for Sp1 transcriptional activation, subunit 4, 100kDa"	THRAP4, CRSP4			Standard	NM_001079518		Approved	TRAP100, KIAA0130, DRIP100, CRSP100	uc002htt.3	O75448	OTTHUMG00000133329	ENST00000394128.2:c.1908T>A	17.37:g.38182486A>T						MED24_ENST00000394127.2_Silent_p.R623R|MED24_ENST00000394128.2_Silent_p.R636R|MED24_ENST00000356271.3_Silent_p.R623R|MED24_ENST00000501516.3_Silent_p.R655R	p.R661R			O75448	MED24_HUMAN			18	2401	-	Colorectal(19;0.000442)		636					A8K4S5|B3KMR9|Q14143|Q9NNY5	Silent	SNP	ENST00000394128.2	37	c.1983T>A	CCDS11359.1																																																																																				0.552	MED24-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257147.2	NM_014815		6	72	0	0	0	1	0	6	72					T	38182486	A	T	38182486	2	4	277	1	0	0	0	0	0	0	0	1	9442	146	6	5		5	MED24	17	38182486	Silent	SNP	A	TCGA-J4-A83J-01A-11D-A364-08		38182486	43012724	54	12835											
G6PC3	92579	broad.mit.edu	37	chr17	42152704	42152704	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tcctgggctggctgatgactCcccgagtgcctatggagcgg	5	9	15	12	2	0	2	0	2	0	0	2	4	2	3	4	4	2	2	4	4	1	1			TCGA-J4-A83J-01A-11D-A364-08	TCGA-J4-A83J-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26425bd7-6764-40d8-bfc9-fe8738359cc2	1da444be-497e-4cd9-96a8-1643c6f3d878	g.chr17:42152704C>A	ENST00000269097.4	+	5	793	c.562C>A	c.(562-564)Ccc>Acc	p.P188T		NM_138387.3	NP_612396.1	Q9BUM1	G6PC3_HUMAN	glucose 6 phosphatase, catalytic, 3	188					carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose 6-phosphate metabolic process (GO:0051156)|glucose transport (GO:0015758)|glucose-6-phosphate transport (GO:0015760)|hexose transport (GO:0008645)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	glucose-6-phosphatase activity (GO:0004346)			endometrium(2)|large_intestine(5)|lung(1)|ovary(2)|skin(1)	11		Breast(137;0.00637)|Prostate(33;0.0313)		BRCA - Breast invasive adenocarcinoma(366;0.113)		GCTGATGACTCCCCGAGTGCC	0.597																																						ENST00000269097.4																			0				endometrium(2)|large_intestine(5)|lung(1)|ovary(2)|skin(1)	11						c.(562-564)Ccc>Acc		glucose 6 phosphatase, catalytic, 3							109	97	101					17																	42152704		2203	4300	6503	SO:0001583	missense	92579				gluconeogenesis|transmembrane transport	endoplasmic reticulum membrane|integral to membrane	glucose-6-phosphatase activity	g.chr17:42152704C>A	BC021574	CCDS11476.1	17q21.31	2014-09-17				ENSG00000141349			24861	protein-coding gene	gene with protein product		611045				12370122, 12965222	Standard	NM_138387		Approved	UGRP	uc002iex.3	Q9BUM1		ENST00000269097.4:c.562C>A	17.37:g.42152704C>A	ENSP00000269097:p.Pro188Thr						p.P188T	NM_138387.3	NP_612396.1	Q9BUM1	G6PC3_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.113)	5	793	+		Breast(137;0.00637)|Prostate(33;0.0313)	188					Q8WU15	Missense_Mutation	SNP	ENST00000269097.4	37	c.562C>A	CCDS11476.1	.	.	.	.	.	.	.	.	.	.	C	10.81	1.456303	0.26161	.	.	ENSG00000141349	ENST00000269097	T	0.73681	-0.77	5.27	5.27	0.74061	Phosphatidic acid phosphatase/chloroperoxidase, N-terminal (1);	0.607303	0.17344	N	0.177639	T	0.54382	0.1855	N	0.03154	-0.405	0.39245	D	0.963931	P	0.43231	0.801	B	0.40741	0.339	T	0.59144	-0.7509	10	0.22706	T	0.39	-4.4477	15.9118	0.79477	0.0:1.0:0.0:0.0	.	188	Q9BUM1	G6PC3_HUMAN	T	188	ENSP00000269097:P188T	ENSP00000269097:P188T	P	+	1	0	G6PC3	39508230	0.161000	0.22892	0.950000	0.38849	0.942000	0.58702	1.673000	0.37534	2.750000	0.94351	0.563000	0.77884	CCC		0.597	G6PC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457675.1	NM_138387		14	27	1	0	2.31682e-05	1	2.48471e-05	14	27					A	42152704	C	A	42152704	3	1	277	1	0	0	0	0	1	0	0	0	6145	855	30	5	580	5	G6PC3	17	42152704	Missense_Mutation	SNP	C	TCGA-J4-A83J-01A-11D-A364-08	3970218	42152704	39042506	55	12836											
SPOP	8405	broad.mit.edu	37	chr17	47696425	47696425	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctacggatgaatttcttgAatccccagtctttgccttgc	7	15	7	12	1	3	2	0	2	3	0	4	3	4	3	3	1	3	0	3	1	3	5			TCGA-J4-A83J-01A-11D-A364-08	TCGA-J4-A83J-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26425bd7-6764-40d8-bfc9-fe8738359cc2	1da444be-497e-4cd9-96a8-1643c6f3d878	g.chr17:47696425A>C	ENST00000393328.2	-	6	763	c.398T>G	c.(397-399)tTc>tGc	p.F133C	SPOP_ENST00000513080.1_5'Flank|SPOP_ENST00000503676.1_Missense_Mutation_p.F133C|SPOP_ENST00000393331.3_Missense_Mutation_p.F133C|SPOP_ENST00000504102.1_Missense_Mutation_p.F133C|SPOP_ENST00000347630.2_Missense_Mutation_p.F133C	NM_003563.3	NP_003554.1	O43791	SPOP_HUMAN	speckle-type POZ protein	133	Important for binding substrate proteins.|MATH. {ECO:0000255|PROSITE- ProRule:PRU00129}.|Required for nuclear localization.				glucose homeostasis (GO:0042593)|positive regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902237)|positive regulation of type B pancreatic cell apoptotic process (GO:2000676)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	Cul3-RING ubiquitin ligase complex (GO:0031463)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	ubiquitin protein ligase binding (GO:0031625)	p.F133C(3)|p.F133S(2)		endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						GAATTTCTTGAATCCCCAGTC	0.448										Prostate(2;0.17)																												ENST00000393331.3																			5	Substitution - Missense(5)	p.F133C(3)|p.F133S(2)	prostate(5)	endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						c.(397-399)tTc>tGc		speckle-type POZ protein							119	120	120					17																	47696425		2203	4300	6503	SO:0001583	missense	8405				mRNA processing	nucleus	protein binding	g.chr17:47696425A>C	AJ000644	CCDS11551.1	17q21.33	2013-01-09			ENSG00000121067	ENSG00000121067		"BTB/POZ domain containing"	11254	protein-coding gene	gene with protein product		602650				9414087	Standard	NM_001007227		Approved	TEF2, BTBD32	uc002ipg.3	O43791	OTTHUMG00000161496	ENST00000393328.2:c.398T>G	17.37:g.47696425A>C	ENSP00000377001:p.Phe133Cys	Prostate(2;0.17)				SPOP_ENST00000347630.2_Missense_Mutation_p.F133C|SPOP_ENST00000504102.1_Missense_Mutation_p.F133C|SPOP_ENST00000503676.1_Missense_Mutation_p.F133C|SPOP_ENST00000393328.2_Missense_Mutation_p.F133C	p.F133C	NM_001007226.1|NM_001007227.1	NP_001007227.1|NP_001007228.1	O43791	SPOP_HUMAN			7	868	-			133			MATH.|Required for nuclear localization.		B2R6S3|D3DTW7|Q53HJ1	Missense_Mutation	SNP	ENST00000393328.2	37	c.398T>G	CCDS11551.1	.	.	.	.	.	.	.	.	.	.	A	20.8	4.055575	0.75960	.	.	ENSG00000121067	ENST00000393328;ENST00000393331;ENST00000347630;ENST00000504102;ENST00000503536;ENST00000503676;ENST00000513872;ENST00000509079;ENST00000505581;ENST00000507970;ENST00000514121	T;T;T;T;T;T;T;T;T	0.46063	0.88;0.88;0.88;0.88;0.88;0.88;0.88;0.88;0.88	5.41	5.41	0.78517	TRAF-type (1);TRAF-like (1);MATH (3);	0.000000	0.85682	D	0.000000	T	0.64789	0.2630	M	0.76328	2.33	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.67321	-0.5700	10	0.54805	T	0.06	-9.6576	15.258	0.73599	1.0:0.0:0.0:0.0	.	133	O43791	SPOP_HUMAN	C	133;133;133;133;17;133;86;133;133;133;133	ENSP00000377001:F133C;ENSP00000377004:F133C;ENSP00000240327:F133C;ENSP00000425905:F133C;ENSP00000420908:F133C;ENSP00000426986:F133C;ENSP00000420960:F133C;ENSP00000426262:F133C;ENSP00000424119:F133C	ENSP00000240327:F133C	F	-	2	0	SPOP	45051424	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.131000	0.94446	2.261000	0.74972	0.460000	0.39030	TTC		0.448	SPOP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365154.2	NM_003563		38	94	0	0	0	1	0	38	94					C	47696425	A	C	47696425	3	2	277	1	0	0	0	0	1	0	0	0	15083	246	9	5	750	5	SPOP	17	47696425	Missense_Mutation	SNP	A	TCGA-J4-A83J-01A-11D-A364-08	5543721	47696425	33498785	56	12837											
ERN1	2081	broad.mit.edu	37	chr17	62130676	62130676	+	Frame_Shift_Del	DEL	T	T	-																															ccaggcccgaggtggtctgcTgcagcaaggtgatgggctcc																										TCGA-J4-A83J-01A-11D-A364-08	TCGA-J4-A83J-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26425bd7-6764-40d8-bfc9-fe8738359cc2	1da444be-497e-4cd9-96a8-1643c6f3d878	g.chr17:62130676delT	ENST00000433197.3	-	16	2104	c.2009delA	c.(2008-2010)cagfs	p.Q671fs		NM_001433.3	NP_001424.3			endoplasmic reticulum to nucleus signaling 1											central_nervous_system(4)|kidney(1)|lung(2)|ovary(1)|stomach(1)	9						GGTGGTCTGCTGCAGCAAGGT	0.612																																						ENST00000433197.2																			0				central_nervous_system(4)|kidney(1)|lung(2)|ovary(1)|stomach(1)	9						c.(2008-2010)cgfs		endoplasmic reticulum to nucleus signaling 1							62	68	66					17																	62130676		2079	4225	6304	SO:0001589	frameshift_variant	2081				activation of signaling protein activity involved in unfolded protein response|apoptosis|cell cycle arrest|induction of apoptosis|mRNA processing|regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to endoplasmic reticulum membrane	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein binding|protein serine/threonine kinase activity	g.chr17:62130676delT	AF059198	CCDS45762.1	17q23	2011-08-12	2007-08-14			ENSG00000178607			3449	protein-coding gene	gene with protein product	"inositol-requiring enzyme 1"	604033	"ER to nucleus signalling 1"			9637683	Standard	NM_001433		Approved	IRE1, IRE1P	uc002jdz.2	O75460		ENST00000433197.3:c.2009delA	17.37:g.62130676delT	ENSP00000401445:p.Gln671fs						p.Q671fs	NM_001433.3	NP_001424.3	O75460	ERN1_HUMAN			16	2104	-			671			Protein kinase.			Frame_Shift_Del	DEL	ENST00000433197.3	37	c.2009delA	CCDS45762.1																																																																																				0.612	ERN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443734.2	NM_001433		13	37						13	37	---	---	---	---	-	62130676	T	-	62130676	7	5	277	1	0	1	0	1	0	0	0	0	5237	1580	55	0	952	0	ERN1	17	62130676	Frame_Shift_Del	DEL	T	TCGA-J4-A83J-01A-11D-A364-08	14434251	62130676	19064534	57	12838											
LAMA3	3909	broad.mit.edu	37	chr18	21441709	21441709	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gtatggtggcggatctccagGagctgcccgcaaccatccac	8	7	12	14	2	1	0	0	0	1	0	3	2	2	2	4	4	3	3	4	4	2	1			TCGA-J4-A83J-01A-11D-A364-08	TCGA-J4-A83J-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26425bd7-6764-40d8-bfc9-fe8738359cc2	1da444be-497e-4cd9-96a8-1643c6f3d878	g.chr18:21441709G>T	ENST00000313654.9	+	35	4763	c.4522G>T	c.(4522-4524)Gag>Tag	p.E1508*	LAMA3_ENST00000399516.3_Nonsense_Mutation_p.E1508*	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	1508	Laminin IV type A. {ECO:0000255|PROSITE- ProRule:PRU00458}.				cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-5 complex (GO:0005610)	structural molecule activity (GO:0005198)			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)					GGATCTCCAGGAGCTGCCCGC	0.597																																						ENST00000313654.9																			0				NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128						c.(4522-4524)Gag>Tag		laminin, alpha 3	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						39	42	41					18																	21441709		2020	4181	6201	SO:0001587	stop_gained	3909				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	g.chr18:21441709G>T	L34155	CCDS11880.1, CCDS42419.1, CCDS45838.1, CCDS59307.1	18q11.2	2013-03-01	2002-08-29		ENSG00000053747	ENSG00000053747		"Laminins"	6483	protein-coding gene	gene with protein product		600805	"laminin, alpha 3 (nicein (150kD), kalinin (165kD), BM600 (150kD), epilegrin)"	LAMNA		8077230	Standard	NM_000227		Approved	nicein-150kDa, kalinin-165kDa, BM600-150kDa, epiligrin	uc002kuq.3	Q16787	OTTHUMG00000131874	ENST00000313654.9:c.4522G>T	18.37:g.21441709G>T	ENSP00000324532:p.Glu1508*					LAMA3_ENST00000399516.3_Nonsense_Mutation_p.E1508*	p.E1508*	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN			35	4763	+	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)		1508			Laminin IV type A.		B0YJ33|Q13679|Q13680|Q6VU67|Q6VU68|Q6VU69|Q76E14|Q96TG0	Nonsense_Mutation	SNP	ENST00000313654.9	37	c.4522G>T	CCDS42419.1	.	.	.	.	.	.	.	.	.	.	G	42	9.795377	0.99266	.	.	ENSG00000053747	ENST00000313654;ENST00000399516;ENST00000416669	.	.	.	5.5	4.63	0.57726	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.08599	T	0.76	.	14.096	0.65021	0.0721:0.0:0.9278:0.0	.	.	.	.	X	1508;1508;1506	.	ENSP00000324532:E1508X	E	+	1	0	LAMA3	19695707	1.000000	0.71417	1.000000	0.80357	0.242000	0.25591	7.313000	0.78978	1.322000	0.45245	0.555000	0.69702	GAG		0.597	LAMA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254824.3	NM_000227, NM_198129		3	20	1	0	0.004672	1	0.004736	3	20					T	21441709	G	T	21441709	4	4	277	1	0	0	0	0	0	1	0	0	8607	1175	41	5	4660	5	LAMA3	18	21441709	Nonsense_Mutation	SNP	G	TCGA-J4-A83J-01A-11D-A364-08		21441709	56635539	58	12839											
ZNF236	7776	broad.mit.edu	37	chr18	74620343	74620343	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tagatgacagcactgtagacCagcagagcatgcaggcctcc	12	6	11	12	0	0	4	0	1	0	3	1	4	1	4	3	1	4	5	3	1	2	2			TCGA-J4-A83J-01A-11D-A364-08	TCGA-J4-A83J-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26425bd7-6764-40d8-bfc9-fe8738359cc2	1da444be-497e-4cd9-96a8-1643c6f3d878	g.chr18:74620343C>T	ENST00000253159.8	+	14	2557	c.2359C>T	c.(2359-2361)Cag>Tag	p.Q787*	ZNF236_ENST00000320610.9_Nonsense_Mutation_p.Q789*	NM_007345.3	NP_031371.3	Q9UL36	ZN236_HUMAN	zinc finger protein 236	787					cellular response to glucose stimulus (GO:0071333)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(43)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	94		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)		CACTGTAGACCAGCAGAGCAT	0.552																																						ENST00000253159.8																			0				NS(1)|breast(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(43)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	94						c.(2359-2361)Cag>Tag		zinc finger protein 236							101	109	106					18																	74620343		2097	4216	6313	SO:0001587	stop_gained	7776				cellular response to glucose stimulus	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr18:74620343C>T	AF085243	CCDS42447.1	18q22-q23	2013-01-08				ENSG00000130856		"Zinc fingers, C2H2-type"	13028	protein-coding gene	gene with protein product		604760				10458916	Standard	NM_007345		Approved		uc002lmi.3	Q9UL36		ENST00000253159.8:c.2359C>T	18.37:g.74620343C>T	ENSP00000253159:p.Gln787*					ZNF236_ENST00000320610.9_Nonsense_Mutation_p.Q789*	p.Q787*	NM_007345.3	NP_031371.3	Q9UL36	ZN236_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)	14	2557	+		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)	787					B2RTX9|Q9UL37	Nonsense_Mutation	SNP	ENST00000253159.8	37	c.2359C>T	CCDS42447.1	.	.	.	.	.	.	.	.	.	.	C	40	8.388693	0.98789	.	.	ENSG00000130856	ENST00000253159;ENST00000543926;ENST00000320610	.	.	.	5.23	5.23	0.72850	.	0.065812	0.64402	D	0.000008	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	.	19.1458	0.93467	0.0:1.0:0.0:0.0	.	.	.	.	X	787	.	ENSP00000253159:Q787X	Q	+	1	0	ZNF236	72749331	1.000000	0.71417	1.000000	0.80357	0.409000	0.31022	4.678000	0.61641	2.600000	0.87896	0.563000	0.77884	CAG		0.552	ZNF236-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000445776.1			7	165	0	0	0	1	0	7	165					T	74620343	C	T	74620343	4	4	277	1	0	0	0	0	0	1	0	0	17786	595	21	3	2413	3	ZNF236	18	74620343	Nonsense_Mutation	SNP	C	TCGA-J4-A83J-01A-11D-A364-08	53178634	74620343	3456905	59	12840											
TMEM143	55260	broad.mit.edu	37	chr19	48845943	48845943	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agggcgcgctgcagggtgggCgtgcgcaccttcagctccgg	4	6	18	13	5	1	0	1	0	0	0	2	0	2	0	2	4	3	4	2	4	0	1			TCGA-J4-A83J-01A-11D-A364-08	TCGA-J4-A83J-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26425bd7-6764-40d8-bfc9-fe8738359cc2	1da444be-497e-4cd9-96a8-1643c6f3d878	g.chr19:48845943C>T	ENST00000293261.3	-	6	1135	c.819G>A	c.(817-819)acG>acA	p.T273T	TMEM143_ENST00000435956.3_Silent_p.T238T|TMEM143_ENST00000541566.1_Silent_p.T163T|TMEM143_ENST00000436660.2_Silent_p.T208T|TMEM143_ENST00000377431.2_Silent_p.T173T	NM_018273.2	NP_060743.2	Q96AN5	TM143_HUMAN	transmembrane protein 143	273					hematopoietic progenitor cell differentiation (GO:0002244)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)				endometrium(2)|kidney(1)|large_intestine(2)|lung(9)	14		all_epithelial(76;9.64e-05)|all_lung(116;0.000147)|Lung NSC(112;0.000251)|Prostate(7;0.0187)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000149)|all cancers(93;0.000198)|Epithelial(262;0.0151)|GBM - Glioblastoma multiforme(486;0.0157)		GCAGGGTGGGCGTGCGCACCT	0.642																																						ENST00000293261.3																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(9)	14						c.(817-819)acG>acA		transmembrane protein 143							58	48	51					19																	48845943		2203	4300	6503	SO:0001819	synonymous_variant	55260					integral to membrane|mitochondrion		g.chr19:48845943C>T	AK129801	CCDS12716.1	19q13.32	2008-02-05				ENSG00000161558			25603	protein-coding gene	gene with protein product						12975309	Standard	NM_018273		Approved	FLJ10922	uc002pix.1	Q96AN5		ENST00000293261.3:c.819G>A	19.37:g.48845943C>T						TMEM143_ENST00000435956.3_Silent_p.T238T|TMEM143_ENST00000377431.2_Silent_p.T173T|TMEM143_ENST00000541566.1_Silent_p.T163T|TMEM143_ENST00000436660.2_Silent_p.T208T	p.T273T	NM_018273.2	NP_060743.2	Q96AN5	TM143_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000149)|all cancers(93;0.000198)|Epithelial(262;0.0151)|GBM - Glioblastoma multiforme(486;0.0157)	6	1135	-		all_epithelial(76;9.64e-05)|all_lung(116;0.000147)|Lung NSC(112;0.000251)|Prostate(7;0.0187)|all_neural(266;0.0506)|Ovarian(192;0.113)	273					A8K656|Q6UXY4|Q9NV49	Silent	SNP	ENST00000293261.3	37	c.819G>A	CCDS12716.1																																																																																				0.642	TMEM143-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465622.1	NM_018273		6	16	0	0	0	1	0	6	16					T	48845943	C	T	48845943	2	4	277	1	0	0	0	0	0	0	0	1	16054	755	27	1		1	TMEM143	19	48845943	Silent	SNP	C	TCGA-J4-A83J-01A-11D-A364-08		48845943	10283040	60	12841											
RPS9	6203	broad.mit.edu	37	chr19	54710321	54710321	+	Missense_Mutation	SNP	G	G	C																															tcgcgtgctgatccgccagcGccatatcaggtaccacctcg																										TCGA-J4-A83J-01A-11D-A364-08	TCGA-J4-A83J-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26425bd7-6764-40d8-bfc9-fe8738359cc2	1da444be-497e-4cd9-96a8-1643c6f3d878	g.chr19:54710321G>C	ENST00000302907.4	+	4	570	c.398G>C	c.(397-399)cGc>cCc	p.R133P	RPS9_ENST00000441429.1_Missense_Mutation_p.R133P|RPS9_ENST00000391751.3_Intron|RPS9_ENST00000391752.1_Missense_Mutation_p.R133P|RPS9_ENST00000402367.1_Missense_Mutation_p.R133P|RPS9_ENST00000391753.2_Missense_Mutation_p.R133P	NM_001013.3	NP_001004.2	P46781	RS9_HUMAN	ribosomal protein S9	133	S4 RNA-binding. {ECO:0000255|PROSITE- ProRule:PRU00182}.				cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|positive regulation of cell proliferation (GO:0008284)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic small ribosomal subunit (GO:0022627)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|rRNA binding (GO:0019843)|structural constituent of ribosome (GO:0003735)|translation regulator activity (GO:0045182)			NS(1)|breast(1)|kidney(11)|large_intestine(3)|lung(2)|ovary(1)|urinary_tract(1)	20	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.18)		ATCCGCCAGCGCCATATCAGG	0.577																																						ENST00000402367.1																			0				NS(1)|breast(1)|kidney(11)|large_intestine(3)|lung(2)|ovary(1)|urinary_tract(1)	20						c.(397-399)cGc>cCc		ribosomal protein S9							31	33	32					19																	54710321		2203	4300	6503	SO:0001583	missense	6203				endocrine pancreas development|positive regulation of cell proliferation|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit|nucleolus	protein binding|rRNA binding|structural constituent of ribosome|translation regulator activity	g.chr19:54710321G>C	U14971	CCDS12884.1	19q13.4	2011-04-05			ENSG00000170889	ENSG00000170889		"S ribosomal proteins"	10442	protein-coding gene	gene with protein product	"40S ribosomal protein S9"	603631				7772601, 9582194	Standard	XM_005259135		Approved	S9	uc002qdx.3	P46781	OTTHUMG00000066618	ENST00000302907.4:c.398G>C	19.37:g.54710321G>C	ENSP00000302896:p.Arg133Pro					RPS9_ENST00000391752.1_Missense_Mutation_p.R133P|RPS9_ENST00000391751.3_Intron|RPS9_ENST00000302907.4_Missense_Mutation_p.R133P|RPS9_ENST00000441429.1_Missense_Mutation_p.R133P|RPS9_ENST00000391753.2_Missense_Mutation_p.R133P	p.R133P			P46781	RS9_HUMAN		GBM - Glioblastoma multiforme(193;0.18)	4	513	+	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)		133			S4 RNA-binding.		A9C4C1|Q4QRK7|Q9BVZ0	Missense_Mutation	SNP	ENST00000302907.4	37	c.398G>C	CCDS12884.1	.	.	.	.	.	.	.	.	.	.	G	29.3	4.994615	0.93167	.	.	ENSG00000170889	ENST00000302907;ENST00000391752;ENST00000402367;ENST00000391753;ENST00000441429	T;T;T;T;T	0.46819	0.86;0.86;0.86;0.86;0.86	4.7	4.7	0.59300	RNA-binding S4 (4);	0.152878	0.56097	D	0.000035	T	0.78786	0.4338	H	0.97732	4.065	0.80722	D	1	P;D;P	0.63046	0.946;0.992;0.912	P;D;D	0.68039	0.873;0.955;0.955	D	0.86466	0.1782	10	0.72032	D	0.01	-8.2444	15.9326	0.79675	0.0:0.0:1.0:0.0	.	133;133;133	B5MCT8;C9JM19;P46781	.;.;RS9_HUMAN	P	133	ENSP00000302896:R133P;ENSP00000375632:R133P;ENSP00000383937:R133P;ENSP00000375633:R133P;ENSP00000414314:R133P	ENSP00000302896:R133P	R	+	2	0	RPS9	59402133	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	9.009000	0.93606	2.539000	0.85634	0.655000	0.94253	CGC		0.577	RPS9-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142834.3	NM_001013		4	17	0	0	0	1	0	4	17					C	54710321	G	C	54710321	3	2	277	1	0	0	0	0	1	0	0	0	13662	1087	38	5	408	5	RPS9	19	54710321	Missense_Mutation	SNP	G	TCGA-J4-A83J-01A-11D-A364-08	5864378	54710321	4418662	61	12842	67	2									
RPS9	6203	broad.mit.edu	37	chr19	54710322	54710322	+	Silent	SNP	C	C	T																															cgcgtgctgatccgccagcgCcatatcaggtaccacctcgg																										TCGA-J4-A83J-01A-11D-A364-08	TCGA-J4-A83J-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26425bd7-6764-40d8-bfc9-fe8738359cc2	1da444be-497e-4cd9-96a8-1643c6f3d878	g.chr19:54710322C>T	ENST00000302907.4	+	4	571	c.399C>T	c.(397-399)cgC>cgT	p.R133R	RPS9_ENST00000441429.1_Silent_p.R133R|RPS9_ENST00000391751.3_Intron|RPS9_ENST00000391752.1_Silent_p.R133R|RPS9_ENST00000402367.1_Silent_p.R133R|RPS9_ENST00000391753.2_Silent_p.R133R	NM_001013.3	NP_001004.2	P46781	RS9_HUMAN	ribosomal protein S9	133	S4 RNA-binding. {ECO:0000255|PROSITE- ProRule:PRU00182}.				cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|positive regulation of cell proliferation (GO:0008284)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic small ribosomal subunit (GO:0022627)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|rRNA binding (GO:0019843)|structural constituent of ribosome (GO:0003735)|translation regulator activity (GO:0045182)			NS(1)|breast(1)|kidney(11)|large_intestine(3)|lung(2)|ovary(1)|urinary_tract(1)	20	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.18)		TCCGCCAGCGCCATATCAGGT	0.577																																						ENST00000402367.1																			0				NS(1)|breast(1)|kidney(11)|large_intestine(3)|lung(2)|ovary(1)|urinary_tract(1)	20						c.(397-399)cgC>cgT		ribosomal protein S9							31	33	32					19																	54710322		2203	4300	6503	SO:0001819	synonymous_variant	6203				endocrine pancreas development|positive regulation of cell proliferation|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit|nucleolus	protein binding|rRNA binding|structural constituent of ribosome|translation regulator activity	g.chr19:54710322C>T	U14971	CCDS12884.1	19q13.4	2011-04-05			ENSG00000170889	ENSG00000170889		"S ribosomal proteins"	10442	protein-coding gene	gene with protein product	"40S ribosomal protein S9"	603631				7772601, 9582194	Standard	XM_005259135		Approved	S9	uc002qdx.3	P46781	OTTHUMG00000066618	ENST00000302907.4:c.399C>T	19.37:g.54710322C>T						RPS9_ENST00000391752.1_Silent_p.R133R|RPS9_ENST00000391751.3_Intron|RPS9_ENST00000302907.4_Silent_p.R133R|RPS9_ENST00000441429.1_Silent_p.R133R|RPS9_ENST00000391753.2_Silent_p.R133R	p.R133R			P46781	RS9_HUMAN		GBM - Glioblastoma multiforme(193;0.18)	4	514	+	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)		133			S4 RNA-binding.		A9C4C1|Q4QRK7|Q9BVZ0	Silent	SNP	ENST00000302907.4	37	c.399C>T	CCDS12884.1																																																																																				0.577	RPS9-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142834.3	NM_001013		4	17	0	0	0	1	0	4	17					T	54710322	C	T	54710322	2	4	277	1	0	0	0	0	0	0	0	1	13662	726	26	3		3	RPS9	19	54710322	Silent	SNP	C	TCGA-J4-A83J-01A-11D-A364-08	1	54710322	4418661	62	12843	67	2									
CECR5	27440	broad.mit.edu	37	chr22	17621968	17621968	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cctgggcatcttggcttcagCcatccacaggagatccatgt	8	10	10	13	0	2	1	1	0	1	1	4	2	4	1	4	3	1	2	4	3	0	2			TCGA-J4-A83J-01A-11D-A364-08	TCGA-J4-A83J-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26425bd7-6764-40d8-bfc9-fe8738359cc2	1da444be-497e-4cd9-96a8-1643c6f3d878	g.chr22:17621968C>T	ENST00000336737.4	-	6	752	c.727G>A	c.(727-729)Gct>Act	p.A243T	CECR5_ENST00000155674.5_Missense_Mutation_p.A213T|CECR5_ENST00000399852.3_Missense_Mutation_p.A106T	NM_033070.2	NP_149061.1	Q9BXW7	CECR5_HUMAN	cat eye syndrome chromosome region, candidate 5	243						mitochondrion (GO:0005739)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|liver(1)|lung(10)|pancreas(1)|prostate(1)	21		all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132)				TTGGCTTCAGCCATCCACAGG	0.632																																						ENST00000336737.4																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|liver(1)|lung(10)|pancreas(1)|prostate(1)	21						c.(727-729)Gct>Act		cat eye syndrome chromosome region, candidate 5							52	53	53					22																	17621968		2203	4300	6503	SO:0001583	missense	27440						hydrolase activity	g.chr22:17621968C>T	AF273270	CCDS13741.1, CCDS33595.1	22q11.2	2008-06-12			ENSG00000069998	ENSG00000069998			1843	protein-coding gene	gene with protein product						11381032	Standard	NM_017829		Approved		uc002zmf.3	Q9BXW7	OTTHUMG00000150071	ENST00000336737.4:c.727G>A	22.37:g.17621968C>T	ENSP00000337358:p.Ala243Thr					CECR5_ENST00000155674.5_Missense_Mutation_p.A213T|CECR5_ENST00000399852.3_Missense_Mutation_p.A106T	p.A243T	NM_033070.2	NP_149061.1	Q9BXW7	CECR5_HUMAN			6	752	-		all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132)	243					B2RCK5|Q9BXW8|Q9NWA8|Q9NX41	Missense_Mutation	SNP	ENST00000336737.4	37	c.727G>A	CCDS33595.1	.	.	.	.	.	.	.	.	.	.	C	31	5.065712	0.93898	.	.	ENSG00000069998	ENST00000155674;ENST00000336737;ENST00000399852	T;T;T	0.25749	1.78;1.78;1.78	5.28	5.28	0.74379	HAD-like domain (1);	0.105124	0.64402	D	0.000005	T	0.41743	0.1172	L	0.42008	1.315	0.53005	D	0.999965	P;D;D;D	0.89917	0.733;1.0;0.996;0.997	P;D;D;D	0.74348	0.525;0.983;0.916;0.972	T	0.08106	-1.0738	10	0.11485	T	0.65	-15.7789	18.8971	0.92427	0.0:1.0:0.0:0.0	.	213;106;243;107	Q9BXW7-2;A8MYZ9;Q9BXW7;B3KVW8	.;.;CECR5_HUMAN;.	T	213;243;106	ENSP00000155674:A213T;ENSP00000337358:A243T;ENSP00000382745:A106T	ENSP00000155674:A213T	A	-	1	0	CECR5	16001968	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	7.364000	0.79526	2.471000	0.83476	0.655000	0.94253	GCT		0.632	CECR5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316100.1	NM_017829		3	36	0	0	0	1	0	3	36					T	17621968	C	T	17621968	3	4	277	1	0	0	0	0	1	0	0	0	3207	739	26	3	556	3	CECR5	22	17621968	Missense_Mutation	SNP	C	TCGA-J4-A83J-01A-11D-A364-08		17621968	33682598	63	12844											
FAM47B	170062	broad.mit.edu	37	chrX	34962650	34962652	+	In_Frame_Del	DEL	ATT	ATT	-																															taagaagtgatgaacctttgAttgaccccaagcccgtactt																										TCGA-J4-A83J-01A-11D-A364-08	TCGA-J4-A83J-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26425bd7-6764-40d8-bfc9-fe8738359cc2	1da444be-497e-4cd9-96a8-1643c6f3d878	g.chrX:34962650_34962652delATT	ENST00000329357.5	+	1	1738_1740	c.1702_1704delATT	c.(1702-1704)attdel	p.I568del		NM_152631.2	NP_689844.2	Q8NA70	FA47B_HUMAN	family with sequence similarity 47, member B	568										breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	71						TGAACCTTTGATTGACCCCAAGC	0.463																																						ENST00000329357.5																			0				breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	71						c.(1702-1704)del		family with sequence similarity 47, member B																																				SO:0001651	inframe_deletion	170062							g.chrX:34962650_34962652delATT	BC035026	CCDS14236.1	Xp21.1	2004-08-09			ENSG00000189132	ENSG00000189132			26659	protein-coding gene	gene with protein product						14702039	Standard	NM_152631		Approved	FLJ35782	uc004ddi.2	Q8NA70	OTTHUMG00000021345	ENST00000329357.5:c.1702_1704delATT	X.37:g.34962650_34962652delATT	ENSP00000328307:p.Ile568del						p.I568del	NM_152631.2	NP_689844.2	Q8NA70	FA47B_HUMAN			1	1738_1740	+			568					Q5JQN5|Q6PIG3	In_Frame_Del	DEL	ENST00000329357.5	37	c.1702_1704delATT	CCDS14236.1																																																																																				0.463	FAM47B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056211.1	NM_152631		49	30						49	30	---	---	---	---	-	34962652	ATT	-	34962650	7	5	277	1	0	1	0	1	0	0	0	0	5570	333	12	0	1704	0	FAM47B	23	34962650	In_Frame_Del	DEL	ATT	TCGA-J4-A83J-01A-11D-A364-08		34962650	120307910	64	12845											
CHM	1121	broad.mit.edu	37	chrX	85212902	85212902	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctcatattccatacaaaatgTaagaaatttcattagcattc	16	14	3	8	0	2	1	2	0	0	1	4	1	3	1	1	0	2	2	1	0	7	7			TCGA-J4-A83J-01A-11D-A364-08	TCGA-J4-A83J-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26425bd7-6764-40d8-bfc9-fe8738359cc2	1da444be-497e-4cd9-96a8-1643c6f3d878	g.chrX:85212902T>C	ENST00000357749.2	-	7	927	c.898A>G	c.(898-900)Aca>Gca	p.T300A	CHM_ENST00000467744.2_Intron|CHM_ENST00000537751.1_Missense_Mutation_p.T152A	NM_000390.2	NP_000381.1	P24386	RAE1_HUMAN	choroideremia (Rab escort protein 1)	300					blood vessel development (GO:0001568)|protein geranylgeranylation (GO:0018344)|protein targeting to membrane (GO:0006612)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	cytosol (GO:0005829)|Rab-protein geranylgeranyltransferase complex (GO:0005968)	GTPase activator activity (GO:0005096)|Rab geranylgeranyltransferase activity (GO:0004663)|Rab GTPase binding (GO:0017137)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(12)|ovary(1)|prostate(1)	20		all_lung(315;5.41e-06)				ATACAAAATGTAAGAAATTTC	0.274																																						ENST00000357749.2																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(12)|ovary(1)|prostate(1)	20						c.(898-900)Aca>Gca		choroideremia (Rab escort protein 1)							48	47	47					X																	85212902		2202	4292	6494	SO:0001583	missense	1121				intracellular protein transport|protein geranylgeranylation|response to stimulus|visual perception	Rab-protein geranylgeranyltransferase complex	GTPase activator activity|Rab geranylgeranyltransferase activity	g.chrX:85212902T>C	X78121	CCDS14454.1, CCDS48139.1	Xq21.1-q21.3	2014-09-17			ENSG00000188419	ENSG00000188419			1940	protein-coding gene	gene with protein product		300390		TCD, DXS540		1373238	Standard	XM_006724615		Approved	REP-1	uc004eet.3	P24386	OTTHUMG00000021937	ENST00000357749.2:c.898A>G	X.37:g.85212902T>C	ENSP00000350386:p.Thr300Ala					CHM_ENST00000467744.1_Intron|CHM_ENST00000537751.1_Missense_Mutation_p.T152A	p.T300A	NM_000390.2	NP_000381.1	P24386	RAE1_HUMAN			7	927	-		all_lung(315;5.41e-06)	300					A1L4D2|O43732	Missense_Mutation	SNP	ENST00000357749.2	37	c.898A>G	CCDS14454.1	.	.	.	.	.	.	.	.	.	.	T	20.9	4.072908	0.76415	.	.	ENSG00000188419	ENST00000357749;ENST00000537751	D;D	0.85702	-2.02;-2.02	4.36	4.36	0.52297	.	0.047572	0.85682	D	0.000000	D	0.91085	0.7194	M	0.88570	2.965	0.58432	D	0.999995	P	0.48834	0.916	P	0.55087	0.768	D	0.91445	0.5177	10	0.44086	T	0.13	-10.8818	13.1157	0.59299	0.0:0.0:0.0:1.0	.	300	P24386	RAE1_HUMAN	A	300;152	ENSP00000350386:T300A;ENSP00000441728:T152A	ENSP00000350386:T300A	T	-	1	0	CHM	85099558	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	6.915000	0.75770	1.535000	0.49220	0.339000	0.21740	ACA		0.274	CHM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057396.3	NM_000390		23	11	0	0	0	1	0	23	11					C	85212902	T	C	85212902	3	2	277	1	0	0	0	0	1	0	0	0	3350	1638	57	4	1099	4	CHM	23	85212902	Missense_Mutation	SNP	T	TCGA-J4-A83J-01A-11D-A364-08	50250252	85212902	70057658	65	12846											
DBT	1629	broad.mit.edu	37	chr1	100681632	100681632	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ttttggctttggtggaggtgGcataatttcaactttgggtg	6	17	14	4	0	1	0	1	0	0	0	1	1	1	1	0	6	1	2	0	6	2	6			TCGA-J4-A83K-01A-11D-A34U-08	TCGA-J4-A83K-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4d93fb9-005b-4fc2-9c1d-409da6817ba8	03fd3a9c-8dae-4e30-9439-2c509bcaae9c	g.chr1:100681632G>A	ENST00000370132.4	-	6	692	c.679C>T	c.(679-681)Cca>Tca	p.P227S	DBT_ENST00000370131.3_Missense_Mutation_p.P227S	NM_001918.3	NP_001909.3	P11182	ODB2_HUMAN	dihydrolipoamide branched chain transacylase E2	227					branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|small molecule metabolic process (GO:0044281)	mitochondrial alpha-ketoglutarate dehydrogenase complex (GO:0005947)|mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	dihydrolipoyllysine-residue (2-methylpropanoyl)transferase activity (GO:0043754)			NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|pancreas(1)|prostate(1)|skin(1)	19		all_epithelial(167;5.4e-06)|all_lung(203;0.00125)|Lung NSC(277;0.00131)		Epithelial(280;0.0739)|all cancers(265;0.123)|COAD - Colon adenocarcinoma(174;0.154)|Lung(183;0.199)		GGTGGAGGTGGCATAATTTCA	0.398																																						ENST00000370132.3																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|pancreas(1)|prostate(1)|skin(1)	19						c.(679-681)Cca>Tca		dihydrolipoamide branched chain transacylase E2							262	256	258					1																	100681632		2203	4300	6503	SO:0001583	missense	1629				branched chain family amino acid catabolic process|fatty-acyl-CoA biosynthetic process	microtubule cytoskeleton|mitochondrial alpha-ketoglutarate dehydrogenase complex|mitochondrial nucleoid	acyltransferase activity|cofactor binding|dihydrolipoyllysine-residue (2-methylpropanoyl)transferase activity|protein binding	g.chr1:100681632G>A	BC016675	CCDS767.1	1p31	2008-02-05	2004-11-15		ENSG00000137992	ENSG00000137992			2698	protein-coding gene	gene with protein product		248610	"dihydrolipoamide branched chain transacylase (E2 component of branched chain keto acid dehydrogenase complex; maple syrup urine disease)"			1420314, 1429740	Standard	NM_001918		Approved		uc001dta.3	P11182	OTTHUMG00000010921	ENST00000370132.4:c.679C>T	1.37:g.100681632G>A	ENSP00000359151:p.Pro227Ser					DBT_ENST00000370131.3_Missense_Mutation_p.P227S	p.P227S	NM_001918.3	NP_001909.3	P11182	ODB2_HUMAN		Epithelial(280;0.0739)|all cancers(265;0.123)|COAD - Colon adenocarcinoma(174;0.154)|Lung(183;0.199)	6	692	-		all_epithelial(167;5.4e-06)|all_lung(203;0.00125)|Lung NSC(277;0.00131)	227					B2R811|Q5VVL8	Missense_Mutation	SNP	ENST00000370132.4	37	c.679C>T	CCDS767.1	.	.	.	.	.	.	.	.	.	.	g	11.02	1.517223	0.27123	.	.	ENSG00000137992	ENST00000543138;ENST00000370132;ENST00000370131	T;T	0.34667	1.4;1.35	5.66	3.69	0.42338	.	0.164392	0.53938	D	0.000046	T	0.08802	0.0218	N	0.19112	0.55	0.58432	D	0.999991	B;B	0.02656	0.0;0.0	B;B	0.08055	0.003;0.001	T	0.10965	-1.0607	10	0.17369	T	0.5	-4.0862	8.4231	0.32712	0.0652:0.113:0.7052:0.1166	.	46;227	F5H1F9;P11182	.;ODB2_HUMAN	S	46;227;227	ENSP00000359151:P227S;ENSP00000359150:P227S	ENSP00000359150:P227S	P	-	1	0	DBT	100454220	0.994000	0.37717	0.999000	0.59377	0.427000	0.31564	1.602000	0.36783	1.531000	0.49152	0.645000	0.84053	CCA		0.398	DBT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030101.2	NM_001918		5	128	0	0	0	1	0	5	128					A	100681632	G	A	100681632	3	1	278	1	0	0	0	0	1	0	0	0	4258	1203	42	3	793	3	DBT	1	100681632	Missense_Mutation	SNP	G	TCGA-J4-A83K-01A-11D-A34U-08		100681632	148568989	1	12847											
LRP1B	53353	broad.mit.edu	37	chr2	141739814	141739814	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggaatgcaacgcccatttccGcaagaaaactggtctacctg	12	8	9	12	2	1	1	0	0	1	1	2	2	2	2	3	2	4	2	3	2	6	2	rs138953199	byFrequency	TCGA-J4-A83K-01A-11D-A34U-08	TCGA-J4-A83K-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4d93fb9-005b-4fc2-9c1d-409da6817ba8	03fd3a9c-8dae-4e30-9439-2c509bcaae9c	g.chr2:141739814G>A	ENST00000389484.3	-	18	3773	c.2802C>T	c.(2800-2802)tgC>tgT	p.C934C		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	934	LDL-receptor class A 5. {ECO:0000255|PROSITE-ProRule:PRU00124}.				protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		GCCCATTTCCGCAAGAAAACT	0.418										TSP Lung(27;0.18)			G|||	2	0.000399361	0.0015	0	5008	,	,		17110	0		0	False		,,,				2504	0				Colon(99;50 2074 2507 20106)	ENST00000389484.3																			0				NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606						c.(2800-2802)tgC>tgT		low density lipoprotein receptor-related protein 1B		G		11,4395	17.9+/-39.9	0,11,2192	118	105	109		2802	3	1	2	dbSNP_134	109	0,8600		0,0,4300	no	coding-synonymous	LRP1B	NM_018557.2		0,11,6492	AA,AG,GG		0.0,0.2497,0.0846		934/4600	141739814	11,12995	2203	4300	6503	SO:0001819	synonymous_variant	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141739814G>A	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"Low density lipoprotein receptors"	6693	protein-coding gene	gene with protein product	"LRP-deleted in tumors"	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.2802C>T	2.37:g.141739814G>A		TSP Lung(27;0.18)					p.C934C	NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)	18	3773	-		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)	934			LDL-receptor class A 5.		Q8WY29|Q8WY30|Q8WY31	Silent	SNP	ENST00000389484.3	37	c.2802C>T	CCDS2182.1																																																																																				0.418	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		13	30	0	0	0	1	0	13	30					A	141739814	G	A	141739814	2	1	278	1	0	0	0	0	0	0	0	1	8955	1079	38	1		1	LRP1B	2	141739814	Silent	SNP	G	TCGA-J4-A83K-01A-11D-A34U-08		141739814	101459559	2	12848											
CPNE9	151835	broad.mit.edu	37	chr3	9754692	9754692	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cacaagacagaggttgtgaaAaacacgctgaatcctgtgtg	14	8	11	8	1	0	4	0	2	0	2	1	4	1	4	1	1	1	2	1	1	4	1			TCGA-J4-A83K-01A-11D-A34U-08	TCGA-J4-A83K-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4d93fb9-005b-4fc2-9c1d-409da6817ba8	03fd3a9c-8dae-4e30-9439-2c509bcaae9c	g.chr3:9754692A>C	ENST00000383832.3	+	10	769	c.579A>C	c.(577-579)aaA>aaC	p.K193N	CPNE9_ENST00000383831.3_Missense_Mutation_p.K193N	NM_153635.2	NP_705899.2	Q8IYJ1	CPNE9_HUMAN	copine family member IX	193	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.					extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	16	Medulloblastoma(99;0.227)					AGGTTGTGAAAAACACGCTGA	0.527																																						ENST00000383832.3																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	16						c.(577-579)aaA>aaC		copine family member IX							43	43	43					3																	9754692		2040	4223	6263	SO:0001583	missense	151835							g.chr3:9754692A>C		CCDS2574.2	3p25.3	2008-10-30			ENSG00000144550	ENSG00000144550			24336	protein-coding gene	gene with protein product						9430674	Standard	XM_006712990		Approved	KIAA4217	uc003bsd.3	Q8IYJ1	OTTHUMG00000128418	ENST00000383832.3:c.579A>C	3.37:g.9754692A>C	ENSP00000373343:p.Lys193Asn					CPNE9_ENST00000383831.3_Missense_Mutation_p.K193N	p.K193N	NM_153635.2	NP_705899.2	Q8IYJ1	CPNE9_HUMAN			10	769	+	Medulloblastoma(99;0.227)		193			C2 2.		A1L430|A6NDX6|A8MSP8	Missense_Mutation	SNP	ENST00000383832.3	37	c.579A>C	CCDS2574.2	.	.	.	.	.	.	.	.	.	.	A	19.96	3.924258	0.73213	.	.	ENSG00000144550	ENST00000383832;ENST00000383831	T;T	0.71579	-0.58;-0.58	4.76	-0.84	0.10755	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.056776	0.64402	D	0.000002	T	0.79470	0.4451	M	0.84773	2.715	0.44067	D	0.99681	P	0.45011	0.848	P	0.56278	0.795	T	0.78420	-0.2211	10	0.54805	T	0.06	.	9.952	0.41645	0.4031:0.0:0.5969:0.0	.	193	Q8IYJ1	CPNE9_HUMAN	N	193	ENSP00000373343:K193N;ENSP00000373342:K193N	ENSP00000373342:K193N	K	+	3	2	CPNE9	9729692	1.000000	0.71417	0.998000	0.56505	0.970000	0.65996	0.615000	0.24329	-0.102000	0.12197	0.260000	0.18958	AAA		0.527	CPNE9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250205.4	NM_001033755		6	19	0	0	0	1	0	6	19					C	9754692	A	C	9754692	3	2	278	1	0	0	0	0	1	0	0	0	3819	11	1	5	613	5	CPNE9	3	9754692	Missense_Mutation	SNP	A	TCGA-J4-A83K-01A-11D-A34U-08		9754692	188267738	3	12849											
BCHE	590	broad.mit.edu	37	chr3	165491285	165491285	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccactcccattctgcttcaTcaatatttcctgtaaaatat	11	16	2	12	0	3	0	2	0	1	0	6	0	6	0	3	0	1	2	3	0	5	6			TCGA-J4-A83K-01A-11D-A34U-08	TCGA-J4-A83K-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4d93fb9-005b-4fc2-9c1d-409da6817ba8	03fd3a9c-8dae-4e30-9439-2c509bcaae9c	g.chr3:165491285T>A	ENST00000264381.3	-	4	1860	c.1694A>T	c.(1693-1695)gAt>gTt	p.D565V	BCHE_ENST00000540653.1_Missense_Mutation_p.D27V	NM_000055.2	NP_000046.1	P06276	CHLE_HUMAN	butyrylcholinesterase	565					cellular protein metabolic process (GO:0044267)|choline metabolic process (GO:0019695)|cocaine metabolic process (GO:0050783)|learning (GO:0007612)|negative regulation of cell proliferation (GO:0008285)|negative regulation of synaptic transmission (GO:0050805)|neuroblast differentiation (GO:0014016)|response to alkaloid (GO:0043279)|response to drug (GO:0042493)|response to folic acid (GO:0051593)|response to glucocorticoid (GO:0051384)|synaptic transmission, cholinergic (GO:0007271)	blood microparticle (GO:0072562)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|nuclear envelope lumen (GO:0005641)	acetylcholinesterase activity (GO:0003990)|beta-amyloid binding (GO:0001540)|catalytic activity (GO:0003824)|choline binding (GO:0033265)|cholinesterase activity (GO:0004104)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)			breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(34)|ovary(4)|pancreas(2)|stomach(1)	55					Aclidinium(DB08897)|Ambenonium(DB01122)|Bambuterol(DB01408)|Chloroprocaine(DB01161)|Chlorphenesin(DB00856)|Chlorpromazine(DB00477)|Choline(DB00122)|Cinchocaine(DB00527)|Cisplatin(DB00515)|Clevidipine(DB04920)|Cyclopentolate(DB00979)|Decamethonium(DB01245)|Demecarium(DB00944)|Diethylcarbamazine(DB00711)|Dipivefrin(DB00449)|Doxacurium chloride(DB01135)|Drospirenone(DB01395)|Echothiophate(DB01057)|Edrophonium(DB01010)|Ephedrine(DB01364)|Ethopropazine(DB00392)|Galantamine(DB00674)|Hexafluronium(DB00941)|Irinotecan(DB00762)|Isoflurophate(DB00677)|Malathion(DB00772)|Mefloquine(DB00358)|Mirabegron(DB08893)|Mivacurium(DB01226)|Neostigmine(DB01400)|Nizatidine(DB00585)|Oxybuprocaine(DB00892)|Pancuronium(DB01337)|Pegvisomant(DB00082)|Pentagastrin(DB00183)|Perindopril(DB00790)|Pipecuronium(DB01338)|Pralidoxime(DB00733)|Procainamide(DB01035)|Procaine(DB00721)|Pyridostigmine(DB00545)|Ramipril(DB00178)|Rivastigmine(DB00989)|Succinylcholine(DB00202)|Sulpiride(DB00391)|Terbutaline(DB00871)|Triamcinolone(DB00620)|Triflupromazine(DB00508)|Trimethaphan(DB01116)	TTCTGCTTCATCAATATTTCC	0.303																																						ENST00000264381.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(34)|ovary(4)|pancreas(2)|stomach(1)	55						c.(1693-1695)gAt>gTt		butyrylcholinesterase	Ambenonium(DB01122)|Atropine(DB00572)|Bambuterol(DB01408)|Chlorpromazine(DB00477)|Choline(DB00122)|Cinnarizine(DB00568)|Demecarium bromide(DB00944)|Dibucaine(DB00527)|Donepezil(DB00843)|Echothiophate Iodide(DB01057)|Edrophonium(DB01010)|Ethopropazine(DB00392)|Etomidate(DB00292)|Galantamine(DB00674)|Hexafluronium bromide(DB00941)|Isoflurophate(DB00677)|Mefloquine(DB00358)|Mivacurium(DB01226)|Neostigmine(DB01400)|Pancuronium(DB01337)|Pralidoxime(DB00733)|Procainamide(DB01035)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Succinylcholine(DB00202)|Terbutaline(DB00871)|Trimethaphan(DB01116)						82	77	79					3																	165491285		2202	4299	6501	SO:0001583	missense	590				choline metabolic process|cocaine metabolic process|synaptic transmission, cholinergic	endoplasmic reticulum lumen|extracellular space|membrane	acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|enzyme binding	g.chr3:165491285T>A	M16541	CCDS3198.1	3q26.1-q26.2	2013-07-10			ENSG00000114200	ENSG00000114200	3.1.1.8		983	protein-coding gene	gene with protein product		177400	"cholinesterase 1", "cholinesterase (serum) 2"	CHE1, CHE2		1769657, 2318303	Standard	NM_000055		Approved	E1	uc003fem.4	P06276	OTTHUMG00000158131	ENST00000264381.3:c.1694A>T	3.37:g.165491285T>A	ENSP00000264381:p.Asp565Val					BCHE_ENST00000540653.1_Missense_Mutation_p.D27V	p.D565V	NM_000055.2	NP_000046.1	P06276	CHLE_HUMAN			4	1860	-			565					A8K7P8	Missense_Mutation	SNP	ENST00000264381.3	37	c.1694A>T	CCDS3198.1	.	.	.	.	.	.	.	.	.	.	T	19.37	3.814935	0.70912	.	.	ENSG00000114200	ENST00000264381;ENST00000479451;ENST00000540653	T;T;T	0.80304	-0.25;-1.34;-1.36	5.03	5.03	0.67393	Acetylcholinesterase, tetramerisation (2);	0.266848	0.31221	N	0.008023	D	0.88171	0.6365	M	0.71581	2.175	0.80722	D	1	D	0.67145	0.996	D	0.70016	0.967	D	0.89478	0.3748	10	0.72032	D	0.01	.	14.2318	0.65898	0.0:0.0:0.0:1.0	.	565	P06276	CHLE_HUMAN	V	565;95;27	ENSP00000264381:D565V;ENSP00000418325:D95V;ENSP00000443583:D27V	ENSP00000264381:D565V	D	-	2	0	BCHE	166973979	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.719000	0.74718	2.008000	0.58898	0.528000	0.53228	GAT		0.303	BCHE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350254.1			20	52	0	0	0	1	0	20	52					A	165491285	T	A	165491285	3	1	278	1	0	0	0	0	1	0	0	0	1358	1435	50	5	118	5	BCHE	3	165491285	Missense_Mutation	SNP	T	TCGA-J4-A83K-01A-11D-A34U-08	155736593	165491285	32531145	4	12850											
C6	729	broad.mit.edu	37	chr5	41172406	41172406	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaaataaaacgcgtttcttTgtttcaatcctgacacagtg	12	13	7	9	2	2	1	1	1	1	0	3	1	3	1	1	0	1	3	1	0	4	4			TCGA-J4-A83K-01A-11D-A34U-08	TCGA-J4-A83K-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4d93fb9-005b-4fc2-9c1d-409da6817ba8	03fd3a9c-8dae-4e30-9439-2c509bcaae9c	g.chr5:41172406T>A	ENST00000263413.3	-	9	1476	c.1212A>T	c.(1210-1212)acA>acT	p.T404T	C6_ENST00000475349.1_5'UTR|C6_ENST00000337836.5_Silent_p.T404T	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	404	MACPF. {ECO:0000255|PROSITE- ProRule:PRU00745}.				complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane attack complex (GO:0005579)				central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				CGCGTTTCTTTGTTTCAATCC	0.403																																						ENST00000263413.3																			0				central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96						c.(1210-1212)acA>acT		complement component 6							240	199	213					5																	41172406		2203	4300	6503	SO:0001819	synonymous_variant	729				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding	g.chr5:41172406T>A	J05024	CCDS3936.1	5p13.1	2014-09-17			ENSG00000039537	ENSG00000039537		"Complement system"	1339	protein-coding gene	gene with protein product		217050					Standard	NM_001115131		Approved		uc003jmk.3	P13671	OTTHUMG00000094781	ENST00000263413.3:c.1212A>T	5.37:g.41172406T>A						C6_ENST00000337836.5_Silent_p.T404T|C6_ENST00000475349.1_5'UTR	p.T404T	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN			9	1476	-		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)	404			MACPF.			Silent	SNP	ENST00000263413.3	37	c.1212A>T	CCDS3936.1																																																																																				0.403	C6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211592.1			5	53	0	0	0	1	0	5	53					A	41172406	T	A	41172406	2	1	278	1	0	0	0	0	0	0	0	1	2315	1799	63	5		5	C6	5	41172406	Silent	SNP	T	TCGA-J4-A83K-01A-11D-A34U-08		41172406	139742854	5	12851											
AGGF1	55109	broad.mit.edu	37	chr5	76332448	76332448	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atcattagctgaaagtttgaGagctgcagcagaagcggctg	12	9	13	7	1	1	3	1	2	0	2	1	4	1	3	0	1	5	6	0	1	3	2			TCGA-J4-A83K-01A-11D-A34U-08	TCGA-J4-A83K-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4d93fb9-005b-4fc2-9c1d-409da6817ba8	03fd3a9c-8dae-4e30-9439-2c509bcaae9c	g.chr5:76332448G>A	ENST00000312916.7	+	4	966	c.584G>A	c.(583-585)aGa>aAa	p.R195K		NM_018046.4	NP_060516.2	Q8N302	AGGF1_HUMAN	angiogenic factor with G patch and FHA domains 1	195					angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell proliferation (GO:0001938)|RNA processing (GO:0006396)|vasculogenesis (GO:0001570)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|perinuclear region of cytoplasm (GO:0048471)	nucleic acid binding (GO:0003676)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|liver(2)|lung(4)|ovary(1)|prostate(1)|skin(2)	20		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)		OV - Ovarian serous cystadenocarcinoma(54;4.51e-51)|Epithelial(54;2.2e-45)|all cancers(79;6.68e-41)		GAAAGTTTGAGAGCTGCAGCA	0.393																																						ENST00000312916.7																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|liver(2)|lung(4)|ovary(1)|prostate(1)|skin(2)	20						c.(583-585)aGa>aAa		angiogenic factor with G patch and FHA domains 1							85	86	86					5																	76332448		2203	4300	6503	SO:0001583	missense	55109				angiogenesis|cell adhesion|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|RNA processing|vasculogenesis	extracellular region|perinuclear region of cytoplasm	eukaryotic cell surface binding|nucleic acid binding|protein binding	g.chr5:76332448G>A	AK001145	CCDS4035.1	5q13.3	2013-10-11			ENSG00000164252	ENSG00000164252		"G patch domain containing"	24684	protein-coding gene	gene with protein product		608464				18564129, 17103452	Standard	NM_018046		Approved	VG5Q, HSU84971, FLJ10283, GPATC7, GPATCH7	uc003ket.3	Q8N302	OTTHUMG00000102132	ENST00000312916.7:c.584G>A	5.37:g.76332448G>A	ENSP00000316109:p.Arg195Lys						p.R195K	NM_018046.4	NP_060516.2	Q8N302	AGGF1_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;4.51e-51)|Epithelial(54;2.2e-45)|all cancers(79;6.68e-41)	4	966	+		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)	195					O00581|Q53YS3|Q9BU84|Q9NW66	Missense_Mutation	SNP	ENST00000312916.7	37	c.584G>A	CCDS4035.1	.	.	.	.	.	.	.	.	.	.	G	25.1	4.599327	0.87055	.	.	ENSG00000164252	ENST00000312916	D	0.86097	-2.07	5.09	5.09	0.68999	.	0.105838	0.64402	D	0.000004	D	0.91078	0.7192	M	0.63843	1.955	0.80722	D	1	D	0.69078	0.997	D	0.72625	0.978	D	0.90581	0.4529	9	.	.	.	-7.9691	18.4903	0.90844	0.0:0.0:1.0:0.0	.	195	Q8N302	AGGF1_HUMAN	K	195	ENSP00000316109:R195K	.	R	+	2	0	AGGF1	76368204	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	8.833000	0.92089	2.363000	0.80096	0.585000	0.79938	AGA		0.393	AGGF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219971.2	NM_018046		4	141	0	0	0	1	0	4	141					A	76332448	G	A	76332448	3	1	278	1	0	0	0	0	1	0	0	0	382	942	33	3	598	3	AGGF1	5	76332448	Missense_Mutation	SNP	G	TCGA-J4-A83K-01A-11D-A34U-08	35160042	76332448	104582812	6	12852											
PCDHA2	56146	broad.mit.edu	37	chr5	140175828	140175828	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cctatgagctggtggtgaccGcacgggacgggggctcgcct	5	7	17	12	4	0	2	0	2	0	0	1	3	0	3	3	5	1	3	3	5	1	1			TCGA-J4-A83K-01A-11D-A34U-08	TCGA-J4-A83K-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4d93fb9-005b-4fc2-9c1d-409da6817ba8	03fd3a9c-8dae-4e30-9439-2c509bcaae9c	g.chr5:140175828G>A	ENST00000526136.1	+	1	1279	c.1279G>A	c.(1279-1281)Gca>Aca	p.A427T	PCDHA2_ENST00000520672.2_Missense_Mutation_p.A427T|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000378132.1_Missense_Mutation_p.A427T|PCDHA1_ENST00000394633.3_Intron	NM_018905.2	NP_061728.1	Q9Y5H9	PCDA2_HUMAN	protocadherin alpha 2	427	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGTGGTGACCGCACGGGACGG	0.632																																						ENST00000526136.1																			0				NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)	71						c.(1279-1281)Gca>Aca									101	96	98					5																	140175828		2203	4300	6503	SO:0001583	missense	0							g.chr5:140175828G>A	AF152480	CCDS54914.1, CCDS64269.1	5q31	2010-11-26				ENSG00000204969		"Cadherins / Protocadherins : Clustered"	8668	other	complex locus constituent	"KIAA0345-like 12"	606308				10380929	Standard	NM_018905		Approved			Q9Y5H9		ENST00000526136.1:c.1279G>A	5.37:g.140175828G>A	ENSP00000431748:p.Ala427Thr					PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000378132.1_Missense_Mutation_p.A427T|PCDHA2_ENST00000520672.2_Missense_Mutation_p.A427T|PCDHA1_ENST00000504120.2_Intron	p.A427T	NM_018905.2	NP_061728.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1279	+								O75287|Q9BTV3	Missense_Mutation	SNP	ENST00000526136.1	37	c.1279G>A	CCDS54914.1	.	.	.	.	.	.	.	.	.	.	g	18.42	3.620473	0.66787	.	.	ENSG00000204969	ENST00000520672;ENST00000378132;ENST00000526136	T;T;T	0.71341	-0.56;-0.56;-0.56	3.98	3.98	0.46160	Cadherin (5);Cadherin-like (1);	0.000000	0.39475	U	0.001346	D	0.89441	0.6716	H	0.98525	4.255	0.44247	D	0.997095	D;D;D	0.76494	0.993;0.996;0.999	P;P;D	0.63793	0.867;0.884;0.918	D	0.94032	0.7302	10	0.72032	D	0.01	.	16.4215	0.83760	0.0:0.0:1.0:0.0	.	427;427;427	Q9Y5H9-3;Q9Y5H9;Q9Y5H9-2	.;PCDA2_HUMAN;.	T	427	ENSP00000430584:A427T;ENSP00000367372:A427T;ENSP00000431748:A427T	ENSP00000367372:A427T	A	+	1	0	PCDHA2	140156012	1.000000	0.71417	0.094000	0.20943	0.237000	0.25408	9.665000	0.98609	1.920000	0.55613	0.650000	0.86243	GCA		0.632	PCDHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372877.3	NM_018905		20	106	0	0	0	1	0	20	106					A	140175828	G	A	140175828	3	1	278	1	0	0	0	0	1	0	0	0	11524	1087	38	1	1281	1	PCDHA2	5	140175828	Missense_Mutation	SNP	G	TCGA-J4-A83K-01A-11D-A34U-08	63843380	140175828	40739432	7	12853											
SH3TC2	79628	broad.mit.edu	37	chr5	148407722	148407722	+	Frame_Shift_Del	DEL	A	A	-																															gcagagacgggcatgggcccAggtcatgtggctcttcttgg																										TCGA-J4-A83K-01A-11D-A34U-08	TCGA-J4-A83K-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4d93fb9-005b-4fc2-9c1d-409da6817ba8	03fd3a9c-8dae-4e30-9439-2c509bcaae9c	g.chr5:148407722delA	ENST00000515425.1	-	11	1674	c.1573delT	c.(1573-1575)tggfs	p.W525fs	SH3TC2_ENST00000538184.1_Frame_Shift_Del_p.W72fs|SH3TC2_ENST00000513340.1_5'Flank|SH3TC2_ENST00000394358.2_Frame_Shift_Del_p.W410fs|SH3TC2_ENST00000512049.1_Frame_Shift_Del_p.W518fs	NM_024577.3	NP_078853.2	Q8TF17	S3TC2_HUMAN	SH3 domain and tetratricopeptide repeats 2	525					cell death (GO:0008219)|peripheral nervous system myelin maintenance (GO:0032287)|regulation of ERBB signaling pathway (GO:1901184)|regulation of intracellular protein transport (GO:0033157)	cytoplasmic vesicle (GO:0031410)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	39			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCATGGGCCCAGGTCATGTGG	0.547																																						ENST00000538184.1																			0				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	39						c.(214-216)ggfs		SH3 domain and tetratricopeptide repeats 2							84	92	90					5																	148407722		2203	4300	6503	SO:0001589	frameshift_variant	79628						binding	g.chr5:148407722delA	AK127248	CCDS4293.1	5q32	2014-09-17			ENSG00000169247	ENSG00000169247		"Tetratricopeptide (TTC) repeat domain containing"	29427	protein-coding gene	gene with protein product		608206				14574644	Standard	NM_024577		Approved	KIAA1985, CMT4C	uc003lpu.3	Q8TF17	OTTHUMG00000129930	ENST00000515425.1:c.1573delT	5.37:g.148407722delA	ENSP00000423660:p.Trp525fs					SH3TC2_ENST00000512049.1_Frame_Shift_Del_p.W518fs|SH3TC2_ENST00000515425.1_Frame_Shift_Del_p.W525fs|SH3TC2_ENST00000394358.2_Frame_Shift_Del_p.W410fs	p.W72fs			Q8TF17	S3TC2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		7	1102	-			525					B3KWE5|Q14CC0|Q14CF5|Q9H8I5	Frame_Shift_Del	DEL	ENST00000515425.1	37	c.214delT	CCDS4293.1																																																																																				0.547	SH3TC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252186.2	NM_024577		55	86						55	86	---	---	---	---	-	148407722	A	-	148407722	7	5	278	1	0	1	0	1	0	0	0	0	14262	188	7	0	2321	0	SH3TC2	5	148407722	Frame_Shift_Del	DEL	A	TCGA-J4-A83K-01A-11D-A34U-08	8231894	148407722	32507538	8	12854											
HIST1H1D	3007	broad.mit.edu	37	chr6	26235094	26235094	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttgcgcctgccttcttcgccTttttcttcacaggtgttttt	2	20	7	12	2	3	0	1	0	2	0	4	0	3	0	3	1	2	1	3	1	0	8			TCGA-J4-A83K-01A-11D-A34U-08	TCGA-J4-A83K-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4d93fb9-005b-4fc2-9c1d-409da6817ba8	03fd3a9c-8dae-4e30-9439-2c509bcaae9c	g.chr6:26235094T>C	ENST00000244534.5	-	1	122	c.68A>G	c.(67-69)aAg>aGg	p.K23R		NM_005320.2	NP_005311.1	P16402	H13_HUMAN	histone cluster 1, H1d	23					nucleosome assembly (GO:0006334)|nucleosome positioning (GO:0016584)	nuclear chromatin (GO:0000790)|nuclear euchromatin (GO:0005719)|nucleosome (GO:0000786)	chromatin DNA binding (GO:0031490)|poly(A) RNA binding (GO:0044822)			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	23		all_hematologic(11;0.0945)|Acute lymphoblastic leukemia(11;0.167)				CTTCTTCGCCTTTTTCTTCAC	0.507																																						ENST00000244534.5																			0				breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	23						c.(67-69)aAg>aGg		histone cluster 1, H1d							70	65	67					6																	26235094		2203	4300	6503	SO:0001583	missense	3007				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr6:26235094T>C	M60747	CCDS4597.1	6p21.3	2012-10-02	2006-10-11	2003-02-21	ENSG00000124575	ENSG00000124575		"Histones / Replication-dependent"	4717	protein-coding gene	gene with protein product		142210	"H1 histone family, member 3", "histone 1, H1d"	H1F3		1916825, 12408966	Standard	NM_005320		Approved	H1.3, H1d, H1s-2	uc003nhd.3	P16402	OTTHUMG00000014432	ENST00000244534.5:c.68A>G	6.37:g.26235094T>C	ENSP00000244534:p.Lys23Arg						p.K23R	NM_005320.2	NP_005311.1	P16402	H13_HUMAN			1	122	-		all_hematologic(11;0.0945)|Acute lymphoblastic leukemia(11;0.167)	23					B2R751|Q2M2I2	Missense_Mutation	SNP	ENST00000244534.5	37	c.68A>G	CCDS4597.1	.	.	.	.	.	.	.	.	.	.	.	3.225	-0.158697	0.06544	.	.	ENSG00000124575	ENST00000244534	T	0.10960	2.82	5.12	5.12	0.69794	.	0.338812	0.27464	N	0.019249	T	0.02083	0.0065	N	0.08118	0	0.46376	D	0.99901	B	0.28512	0.214	B	0.24269	0.052	T	0.47471	-0.9115	10	0.15499	T	0.54	-8.8832	14.3897	0.66970	0.0:0.0:0.0:1.0	.	23	P16402	H13_HUMAN	R	23	ENSP00000244534:K23R	ENSP00000244534:K23R	K	-	2	0	HIST1H1D	26343073	0.998000	0.40836	0.998000	0.56505	0.073000	0.16967	3.034000	0.49751	2.072000	0.62099	0.533000	0.62120	AAG		0.507	HIST1H1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040095.1	NM_005320		4	80	0	0	0	1	0	4	80					C	26235094	T	C	26235094	3	2	278	1	0	0	0	0	1	0	0	0	7125	1609	56	4	601	4	HIST1H1D	6	26235094	Missense_Mutation	SNP	T	TCGA-J4-A83K-01A-11D-A34U-08		26235094	144879973	9	12855											
ZSCAN16	80345	broad.mit.edu	37	chr6	28097612	28097612	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcacaggtcttattcagcatCagagaatccacacaggtgaa	14	8	9	10	0	3	2	2	1	1	1	4	3	4	2	1	2	1	2	1	2	3	2			TCGA-J4-A83K-01A-11D-A34U-08	TCGA-J4-A83K-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4d93fb9-005b-4fc2-9c1d-409da6817ba8	03fd3a9c-8dae-4e30-9439-2c509bcaae9c	g.chr6:28097612C>T	ENST00000340487.4	+	4	1080	c.931C>T	c.(931-933)Cag>Tag	p.Q311*	ZSCAN16-AS1_ENST00000602810.1_RNA|ZSCAN16-AS1_ENST00000600652.1_RNA	NM_025231.1	NP_079507.1	Q9H4T2	ZSC16_HUMAN	zinc finger and SCAN domain containing 16	311					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			large_intestine(5)|liver(1)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	10						TATTCAGCATCAGAGAATCCA	0.423																																						ENST00000340487.4																			0				large_intestine(5)|liver(1)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	10						c.(931-933)Cag>Tag		zinc finger and SCAN domain containing 16							63	61	61					6																	28097612		2203	4300	6503	SO:0001587	stop_gained	80345				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr6:28097612C>T	AK025844	CCDS4644.1	6p21.33	2013-01-08	2007-02-20	2007-02-20	ENSG00000196812	ENSG00000196812		"-", "Zinc fingers, C2H2-type"	20813	protein-coding gene	gene with protein product			"zinc finger protein 392", "zinc finger protein 435"	ZNF392, ZNF435			Standard	NM_025231		Approved	FLJ22191, dJ265C24.3	uc003nkm.3	Q9H4T2	OTTHUMG00000014509	ENST00000340487.4:c.931C>T	6.37:g.28097612C>T	ENSP00000366527:p.Gln311*					RP1-265C24.9_ENST00000600652.1_RNA|RP1-265C24.9_ENST00000602810.1_RNA	p.Q311*	NM_025231.1	NP_079507.1	Q9H4T2	ZSC16_HUMAN			4	1080	+			311					Q9H6K2	Nonsense_Mutation	SNP	ENST00000340487.4	37	c.931C>T	CCDS4644.1	.	.	.	.	.	.	.	.	.	.	C	34	5.361654	0.95877	.	.	ENSG00000196812	ENST00000340487	.	.	.	4.93	4.93	0.64822	.	0.000000	0.33144	N	0.005239	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.38643	T	0.18	.	16.9216	0.86166	0.0:1.0:0.0:0.0	.	.	.	.	X	311	.	ENSP00000366527:Q311X	Q	+	1	0	ZSCAN16	28205591	0.003000	0.15002	0.934000	0.37439	0.982000	0.71751	1.661000	0.37408	2.291000	0.77112	0.655000	0.94253	CAG		0.423	ZSCAN16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040177.1	NM_025231		5	48	0	0	0	1	0	5	48					T	28097612	C	T	28097612	4	4	278	1	0	0	0	0	0	1	0	0	18226	827	29	3	941	3	ZSCAN16	6	28097612	Nonsense_Mutation	SNP	C	TCGA-J4-A83K-01A-11D-A34U-08	1862518	28097612	143017455	10	12856											
TCP11	6954	broad.mit.edu	37	chr6	35089986	35089986	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaagccatcatgttgagaacGtacttagagagatagaggac	16	8	11	6	1	1	4	1	1	0	4	1	7	1	5	1	1	3	2	1	1	5	4	rs144798611		TCGA-J4-A83K-01A-11D-A34U-08	TCGA-J4-A83K-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4d93fb9-005b-4fc2-9c1d-409da6817ba8	03fd3a9c-8dae-4e30-9439-2c509bcaae9c	g.chr6:35089986G>A	ENST00000512012.1	-	4	642	c.486C>T	c.(484-486)taC>taT	p.Y162Y	TCP11_ENST00000412155.2_Silent_p.Y124Y|TCP11_ENST00000444780.2_Silent_p.Y170Y|TCP11_ENST00000373979.2_Silent_p.Y100Y|TCP11_ENST00000311875.5_Silent_p.Y175Y|TCP11_ENST00000373974.4_Silent_p.Y129Y|TCP11_ENST00000418521.2_Silent_p.Y99Y|TCP11_ENST00000244645.3_Silent_p.Y100Y			Q8WWU5	TCP11_HUMAN	t-complex 11, testis-specific	162					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)				breast(1)|kidney(5)|large_intestine(3)|lung(10)|ovary(3)|prostate(1)|skin(4)	27						TGTTGAGAACGTACTTAGAGA	0.468																																						ENST00000311875.5																			0				breast(1)|kidney(5)|large_intestine(3)|lung(10)|ovary(3)|prostate(1)|skin(4)	27						c.(523-525)taC>taT		t-complex 11, testis-specific		G	,	0,4406		0,0,2203	150	135	140		525,300	-1.4	0.6	6	dbSNP_134	140	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	TCP11	NM_001093728.1,NM_018679.4	,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,	175/517,100/442	35089986	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	6954				cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane		g.chr6:35089986G>A		CCDS4799.1, CCDS47413.1, CCDS59015.1, CCDS59016.1, CCDS59017.1, CCDS59018.1	6p21.31	2012-09-20	2012-09-20		ENSG00000124678	ENSG00000124678			11658	protein-coding gene	gene with protein product	"fertilization-promoting peptide receptor"	186982	"t-complex 11 (a murine tcp homolog)", "t-complex 11 homolog (mouse)"	D6S230E		1427894, 11756566, 21597245	Standard	NM_001093728		Approved	KIAA0229, FPPR	uc003okd.2	Q8WWU5	OTTHUMG00000014560	ENST00000512012.1:c.486C>T	6.37:g.35089986G>A						TCP11_ENST00000412155.2_Silent_p.Y124Y|TCP11_ENST00000244645.3_Silent_p.Y100Y|TCP11_ENST00000512012.1_Silent_p.Y162Y|TCP11_ENST00000373979.2_Silent_p.Y100Y|TCP11_ENST00000373974.4_Silent_p.Y129Y|TCP11_ENST00000418521.2_Silent_p.Y99Y|TCP11_ENST00000444780.2_Silent_p.Y170Y	p.Y175Y			Q8WWU5	TCP11_HUMAN			5	942	-			162					B2RCE9|B3KQ27|B7Z7B5|B7Z7G1|B7Z7H4|B7Z7S8|E7EP29|J3KNG1|Q8NF85|Q9NQZ9|Q9NR39	Silent	SNP	ENST00000512012.1	37	c.525C>T																																																																																					0.468	TCP11-014	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000370354.1	NM_001093728		4	129	0	0	0	1	0	4	129					A	35089986	G	A	35089986	2	1	278	1	0	0	0	0	0	0	0	1	15710	1140	40	1		1	TCP11	6	35089986	Silent	SNP	G	TCGA-J4-A83K-01A-11D-A34U-08	6992374	35089986	136025081	11	12857											
BACH2	60468	broad.mit.edu	37	chr6	90660405	90660405	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtaggcctgcgagctggggaGggactggccggctcccaccc	5	5	17	14	2	0	0	0	0	0	0	1	3	1	2	4	6	2	3	4	6	1	1			TCGA-J4-A83K-01A-11D-A34U-08	TCGA-J4-A83K-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4d93fb9-005b-4fc2-9c1d-409da6817ba8	03fd3a9c-8dae-4e30-9439-2c509bcaae9c	g.chr6:90660405G>A	ENST00000257749.4	-	7	2127	c.1420C>T	c.(1420-1422)Ctc>Ttc	p.L474F	BACH2_ENST00000343122.3_Missense_Mutation_p.L474F|RP3-512E2.2_ENST00000445838.1_RNA|RP3-512E2.2_ENST00000413986.1_RNA|BACH2_ENST00000537989.1_Missense_Mutation_p.L474F	NM_021813.2	NP_068585.1	Q9BYV9	BACH2_HUMAN	BTB and CNC homology 1, basic leucine zipper transcription factor 2	474						cytoplasm (GO:0005737)|nucleus (GO:0005634)	RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001206)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	45		all_cancers(76;7.37e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.0063)		BRCA - Breast invasive adenocarcinoma(108;0.0799)		GAGCTGGGGAGGGACTGGCCG	0.617																																						ENST00000257749.4																			0				central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	45						c.(1420-1422)Ctc>Ttc		BTB and CNC homology 1, basic leucine zipper transcription factor 2							42	48	46					6																	90660405		2203	4300	6503	SO:0001583	missense	60468					nucleus	protein dimerization activity|sequence-specific DNA binding	g.chr6:90660405G>A	AL121787	CCDS5026.1	6q15	2013-01-10			ENSG00000112182	ENSG00000112182		"BTB/POZ domain containing", "basic leucine zipper proteins"	14078	protein-coding gene	gene with protein product		605394				10949928, 12829606	Standard	NM_001170794		Approved	BTBD25	uc003pnw.3	Q9BYV9	OTTHUMG00000015216	ENST00000257749.4:c.1420C>T	6.37:g.90660405G>A	ENSP00000257749:p.Leu474Phe					BACH2_ENST00000343122.3_Missense_Mutation_p.L474F|BACH2_ENST00000537989.1_Missense_Mutation_p.L474F|RP3-512E2.2_ENST00000445838.1_RNA|RP3-512E2.2_ENST00000413986.1_RNA	p.L474F	NM_021813.2	NP_068585.1	Q9BYV9	BACH2_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0799)	7	2127	-		all_cancers(76;7.37e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.0063)	474					E1P518|Q59H70|Q5T793|Q9NTS5	Missense_Mutation	SNP	ENST00000257749.4	37	c.1420C>T	CCDS5026.1	.	.	.	.	.	.	.	.	.	.	G	13.63	2.295449	0.40594	.	.	ENSG00000112182	ENST00000257749;ENST00000537989;ENST00000343122	T;T;T	0.55588	0.51;0.51;0.51	4.69	4.69	0.59074	.	0.000000	0.85682	D	0.000000	T	0.26702	0.0653	L	0.29908	0.895	0.58432	D	0.999994	P	0.42409	0.779	B	0.35182	0.197	T	0.07829	-1.0752	10	0.29301	T	0.29	-13.2298	17.8011	0.88587	0.0:0.0:1.0:0.0	.	474	Q9BYV9	BACH2_HUMAN	F	474	ENSP00000257749:L474F;ENSP00000437473:L474F;ENSP00000345642:L474F	ENSP00000257749:L474F	L	-	1	0	BACH2	90717126	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	9.013000	0.93629	2.428000	0.82296	0.557000	0.71058	CTC		0.617	BACH2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041522.2	NM_021813		17	31	0	0	0	1	0	17	31					A	90660405	G	A	90660405	3	1	278	1	0	0	0	0	1	0	0	0	1284	1000	35	3	1117	3	BACH2	6	90660405	Missense_Mutation	SNP	G	TCGA-J4-A83K-01A-11D-A34U-08	55570419	90660405	80454662	12	12858											
GRM3	2913	broad.mit.edu	37	chr7	86493648	86493648	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcaatgggcgggaagtcctcGactccaccacctcatctctg	8	8	10	15	2	2	0	1	0	1	0	6	2	4	1	4	2	0	1	4	2	2	0	rs369532307		TCGA-J4-A83K-01A-11D-A34U-08	TCGA-J4-A83K-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4d93fb9-005b-4fc2-9c1d-409da6817ba8	03fd3a9c-8dae-4e30-9439-2c509bcaae9c	g.chr7:86493648G>A	ENST00000361669.2	+	6	3716	c.2617G>A	c.(2617-2619)Gac>Aac	p.D873N	GRM3_ENST00000394720.2_Missense_Mutation_p.R515Q|GRM3_ENST00000546348.1_Missense_Mutation_p.D465N|GRM3_ENST00000536043.1_Missense_Mutation_p.D745N|GRM3_ENST00000439827.1_Missense_Mutation_p.R517Q	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3	873					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|negative regulation of adenylate cyclase activity (GO:0007194)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)	astrocyte projection (GO:0097449)|axon (GO:0030424)|dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	calcium channel regulator activity (GO:0005246)|G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group II metabotropic glutamate receptor activity (GO:0001641)			NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)					GGAAGTCCTCGACTCCACCAC	0.468																																					GBM(52;969 1098 3139 52280)	ENST00000361669.2																			0				NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109						c.(2617-2619)Gac>Aac		glutamate receptor, metabotropic 3	Acamprosate(DB00659)|Nicotine(DB00184)	G	ASN/ASP	0,4406		0,0,2203	281	229	246		2617	6	1	7		246	1,8599	1.2+/-3.3	0,1,4299	no	missense	GRM3	NM_000840.2	23	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	873/880	86493648	1,13005	2203	4300	6503	SO:0001583	missense	0				synaptic transmission	integral to plasma membrane		g.chr7:86493648G>A		CCDS5600.1	7q21.1-q21.2	2012-08-29			ENSG00000198822	ENSG00000198822		"GPCR / Class C : Glutamate receptors, metabotropic", "Glutamate receptors"	4595	protein-coding gene	gene with protein product		601115				8824806	Standard	NM_000840		Approved	GPRC1C, mGlu3, MGLUR3	uc003uid.3	Q14832	OTTHUMG00000022884	ENST00000361669.2:c.2617G>A	7.37:g.86493648G>A	ENSP00000355316:p.Asp873Asn					GRM3_ENST00000546348.1_Missense_Mutation_p.D465N|GRM3_ENST00000536043.1_Missense_Mutation_p.D745N|GRM3_ENST00000439827.1_Missense_Mutation_p.R517Q|GRM3_ENST00000394720.2_Missense_Mutation_p.R515Q	p.D873N	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN			6	3716	+	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)		873					Q2PNZ6|Q75MV4|Q75N17|Q86YG6|Q8TBH9	Missense_Mutation	SNP	ENST00000361669.2	37	c.2617G>A	CCDS5600.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	34|34	5.291993|5.291993	0.95546|0.95546	0.0|0.0	1.16E-4|1.16E-4	ENSG00000198822|ENSG00000198822	ENST00000361669;ENST00000546348;ENST00000536043|ENST00000439827;ENST00000394720	D;D;D|D;D	0.88509|0.88741	-2.39;-2.34;-2.17|-2.42;-2.42	5.99|5.99	5.99|5.99	0.97316|0.97316	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.85478|0.85478	0.5706|0.5706	L|L	0.32530|0.32530	0.975|0.975	0.28844|0.28844	N|N	0.896453|0.896453	D;D;D|B	0.89917|0.31318	0.996;1.0;0.998|0.319	P;D;P|B	0.91635|0.27887	0.844;0.999;0.856|0.084	T|T	0.81042|0.81042	-0.1112|-0.1112	10|9	0.72032|0.87932	D|D	0.01|0	.|.	19.4659|19.4659	0.94939|0.94939	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	465;745;873|517	B7Z204;F5GYZ2;Q14832|G5E9K2	.;.;GRM3_HUMAN|.	N|Q	873;465;745|517;515	ENSP00000355316:D873N;ENSP00000444064:D465N;ENSP00000441407:D745N|ENSP00000398767:R517Q;ENSP00000378209:R515Q	ENSP00000355316:D873N|ENSP00000378209:R515Q	D|R	+|+	1|2	0|0	GRM3|GRM3	86331584|86331584	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	8.502000|8.502000	0.90505|0.90505	2.840000|2.840000	0.97914|0.97914	0.655000|0.655000	0.94253|0.94253	GAC|CGA		0.468	GRM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253362.2			9	133	0	0	0	1	0	9	133					A	86493648	G	A	86493648	3	1	278	1	0	0	0	0	1	0	0	0	6798	1058	37	2	2635	2	GRM3	7	86493648	Missense_Mutation	SNP	G	TCGA-J4-A83K-01A-11D-A34U-08		86493648	72645015	13	12859											
CDK5	1020	broad.mit.edu	37	chr7	150752140	150752140	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcctcttcaactggtcatcGacatcattgccgggaaaaag	12	10	8	11	2	4	0	3	0	1	0	6	2	5	1	2	2	2	0	2	2	3	2			TCGA-J4-A83K-01A-11D-A34U-08	TCGA-J4-A83K-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4d93fb9-005b-4fc2-9c1d-409da6817ba8	03fd3a9c-8dae-4e30-9439-2c509bcaae9c	g.chr7:150752140G>T	ENST00000485972.1	-	9	1305	c.624C>A	c.(622-624)gtC>gtA	p.V208V	CDK5_ENST00000297518.4_Silent_p.V176V	NM_004935.3	NP_004926.1	Q00535	CDK5_HUMAN	cyclin-dependent kinase 5	208	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon extension (GO:0048675)|axon guidance (GO:0007411)|behavioral response to cocaine (GO:0048148)|blood coagulation (GO:0007596)|calcium ion import (GO:0070509)|cell cycle (GO:0007049)|cell division (GO:0051301)|cell proliferation (GO:0008283)|cell-matrix adhesion (GO:0007160)|central nervous system neuron development (GO:0021954)|cerebellar cortex formation (GO:0021697)|corpus callosum development (GO:0022038)|cortical actin cytoskeleton organization (GO:0030866)|dendrite morphogenesis (GO:0048813)|embryo development (GO:0009790)|hippocampus development (GO:0021766)|intracellular protein transport (GO:0006886)|layer formation in cerebral cortex (GO:0021819)|motor neuron axon guidance (GO:0008045)|negative regulation of axon extension (GO:0030517)|negative regulation of cell cycle (GO:0045786)|negative regulation of neuron death (GO:1901215)|negative regulation of protein export from nucleus (GO:0046826)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of proteolysis (GO:0045861)|negative regulation of synaptic plasticity (GO:0031914)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron apoptotic process (GO:0051402)|neuron differentiation (GO:0030182)|neuron migration (GO:0001764)|neuron projection development (GO:0031175)|nucleocytoplasmic transport (GO:0006913)|oligodendrocyte differentiation (GO:0048709)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|phosphorylation (GO:0016310)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of calcium ion-dependent exocytosis (GO:0045956)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of protein binding (GO:0032092)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein targeting to membrane (GO:0090314)|protein autophosphorylation (GO:0046777)|protein localization to synapse (GO:0035418)|receptor catabolic process (GO:0032801)|receptor clustering (GO:0043113)|regulated secretory pathway (GO:0045055)|regulation of apoptotic process (GO:0042981)|regulation of cell cycle arrest (GO:0071156)|regulation of cell migration (GO:0030334)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of synaptic plasticity (GO:0048167)|rhythmic process (GO:0048511)|Schwann cell development (GO:0014044)|sensory perception of pain (GO:0019233)|serine phosphorylation of STAT3 protein (GO:0033136)|skeletal muscle tissue development (GO:0007519)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic transmission, dopaminergic (GO:0001963)|synaptic transmission, glutamatergic (GO:0035249)|synaptic vesicle endocytosis (GO:0048488)|synaptic vesicle exocytosis (GO:0016079)|visual learning (GO:0008542)	axon (GO:0030424)|cell junction (GO:0030054)|cyclin-dependent protein kinase 5 holoenzyme complex (GO:0016533)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|filopodium (GO:0030175)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|membrane (GO:0016020)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	acetylcholine receptor activator activity (GO:0030549)|ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|ErbB-2 class receptor binding (GO:0005176)|ErbB-3 class receptor binding (GO:0043125)|kinase activity (GO:0016301)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|tau-protein kinase activity (GO:0050321)			central_nervous_system(1)|endometrium(2)|lung(5)|urinary_tract(1)	9		Breast(660;0.159)|Ovarian(593;0.182)	OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)|LUSC - Lung squamous cell carcinoma(290;0.008)|Lung(243;0.00942)|BRCA - Breast invasive adenocarcinoma(188;0.242)		ACTGGTCATCGACATCATTGC	0.552																																						ENST00000485972.1																			0				central_nervous_system(1)|endometrium(2)|lung(5)|urinary_tract(1)	9						c.(622-624)gtC>gtA		cyclin-dependent kinase 5							50	53	52					7																	150752140		1999	4168	6167	SO:0001819	synonymous_variant	1020				activation of pro-apoptotic gene products|blood coagulation|cell division|cell proliferation|embryo development|negative regulation of transcription, DNA-dependent|positive regulation of neuron apoptosis	axon|cytosol|dendrite|growth cone|lamellipodium|membrane|neuromuscular junction|neuronal cell body	acetylcholine receptor activator activity|ATP binding|cyclin-dependent protein kinase activity|ErbB-2 class receptor binding|ErbB-3 class receptor binding|tau-protein kinase activity	g.chr7:150752140G>T	X66364	CCDS47748.1, CCDS55184.1	7q36	2011-11-08			ENSG00000164885	ENSG00000164885		"Cyclin-dependent kinases"	1774	protein-coding gene	gene with protein product		123831				8275715, 1639063	Standard	NM_001164410		Approved	PSSALRE	uc003wir.2	Q00535	OTTHUMG00000158414	ENST00000485972.1:c.624C>A	7.37:g.150752140G>T						CDK5_ENST00000297518.4_Silent_p.V176V	p.V208V	NM_004935.3	NP_004926.1	Q00535	CDK5_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)|LUSC - Lung squamous cell carcinoma(290;0.008)|Lung(243;0.00942)|BRCA - Breast invasive adenocarcinoma(188;0.242)	9	1305	-		Breast(660;0.159)|Ovarian(593;0.182)	208			Protein kinase.		A1XKG3	Silent	SNP	ENST00000485972.1	37	c.624C>A	CCDS47748.1																																																																																				0.552	CDK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350965.3			7	28	1	0	0.248553	1	0.252838	7	28					T	150752140	G	T	150752140	2	4	278	1	0	0	0	0	0	0	0	1	3142	1045	37	5		5	CDK5	7	150752140	Silent	SNP	G	TCGA-J4-A83K-01A-11D-A34U-08	64258492	150752140	8386523	14	12860											
CDK5RAP2	55755	broad.mit.edu	37	chr9	123215999	123215999	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tcagttcatcatgtggcttgGaaaatgagttggtttggaca	10	14	12	5	0	3	1	3	1	0	0	3	3	3	3	0	4	0	4	0	4	2	4			TCGA-J4-A83K-01A-11D-A34U-08	TCGA-J4-A83K-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4d93fb9-005b-4fc2-9c1d-409da6817ba8	03fd3a9c-8dae-4e30-9439-2c509bcaae9c	g.chr9:123215999G>A	ENST00000349780.4	-	21	2707	c.2528C>T	c.(2527-2529)tCc>tTc	p.S843F	CDK5RAP2_ENST00000360190.4_Missense_Mutation_p.S843F|CDK5RAP2_ENST00000359309.3_Missense_Mutation_p.S843F|CDK5RAP2_ENST00000360822.3_Missense_Mutation_p.S811F	NM_018249.4	NP_060719.4	Q96SN8	CK5P2_HUMAN	CDK5 regulatory subunit associated protein 2	843					brain development (GO:0007420)|centrosome organization (GO:0051297)|chromosome segregation (GO:0007059)|establishment of mitotic spindle orientation (GO:0000132)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule bundle formation (GO:0001578)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|negative regulation of centriole replication (GO:0046600)|negative regulation of neuron differentiation (GO:0045665)|neurogenesis (GO:0022008)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of neuron differentiation (GO:0045664)|regulation of spindle checkpoint (GO:0090231)	cell junction (GO:0030054)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|pericentriolar material (GO:0000242)|perinuclear region of cytoplasm (GO:0048471)|spindle pole (GO:0000922)	calmodulin binding (GO:0005516)|microtubule binding (GO:0008017)|protein kinase binding (GO:0019901)|transcription regulatory region DNA binding (GO:0044212)|tubulin binding (GO:0015631)			breast(6)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	58						ATGTGGCTTGGAAAATGAGTT	0.458																																						ENST00000349780.4																			0				breast(6)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	58						c.(2527-2529)tCc>tTc		CDK5 regulatory subunit associated protein 2							171	154	160					9																	123215999		2203	4300	6503	SO:0001583	missense	55755				brain development|centrosome organization|chromosome segregation|G2/M transition of mitotic cell cycle|microtubule bundle formation|negative regulation of centriole replication|positive regulation of transcription, DNA-dependent|regulation of neuron differentiation|regulation of spindle checkpoint	cytosol|Golgi apparatus|microtubule|pericentriolar material|perinuclear region of cytoplasm|spindle pole	calmodulin binding|microtubule binding|neuronal Cdc2-like kinase binding|transcription regulatory region DNA binding	g.chr9:123215999G>A	BK005504	CCDS6823.1, CCDS43871.1, CCDS75888.1	9q33.3	2014-02-21			ENSG00000136861	ENSG00000136861			18672	protein-coding gene	gene with protein product	"centrosomin"	608201	"microcephaly, primary autosomal recessive 3"	MCPH3		10721722, 17764569, 24466316	Standard	NM_018249		Approved	C48, FLJ10867, CEP215	uc004bkf.4	Q96SN8	OTTHUMG00000021043	ENST00000349780.4:c.2528C>T	9.37:g.123215999G>A	ENSP00000343818:p.Ser843Phe					CDK5RAP2_ENST00000360190.4_Missense_Mutation_p.S843F|CDK5RAP2_ENST00000359309.3_Missense_Mutation_p.S843F|CDK5RAP2_ENST00000360822.3_Missense_Mutation_p.S811F	p.S843F	NM_018249.4	NP_060719.4	Q96SN8	CK5P2_HUMAN			21	2707	-			843					Q5JV18|Q7Z3L4|Q7Z3U1|Q7Z7I6|Q9BSW0|Q9H6J6|Q9HCD9|Q9NV90|Q9UIW9	Missense_Mutation	SNP	ENST00000349780.4	37	c.2528C>T	CCDS6823.1	.	.	.	.	.	.	.	.	.	.	G	15.86	2.958619	0.53400	.	.	ENSG00000136861	ENST00000360822;ENST00000359309;ENST00000349780;ENST00000360190;ENST00000416449	T;T;T;T;T	0.19394	3.82;3.76;3.87;3.77;2.15	5.78	2.52	0.30459	.	0.681258	0.13884	N	0.356107	T	0.22322	0.0538	L	0.29908	0.895	0.09310	N	1	B;D;B;B	0.53151	0.051;0.958;0.006;0.02	B;P;B;B	0.56700	0.015;0.804;0.007;0.01	T	0.07673	-1.0760	10	0.48119	T	0.1	.	3.2007	0.06649	0.2812:0.2255:0.4933:0.0	.	612;843;843;237	Q6MZT4;Q96SN8-4;Q96SN8;B1AMJ5	.;.;CK5P2_HUMAN;.	F	811;843;843;843;237	ENSP00000354065:S811F;ENSP00000352258:S843F;ENSP00000343818:S843F;ENSP00000353317:S843F;ENSP00000400395:S237F	ENSP00000343818:S843F	S	-	2	0	CDK5RAP2	122255820	0.686000	0.27661	0.002000	0.10522	0.039000	0.13416	1.348000	0.33987	0.761000	0.33130	0.650000	0.86243	TCC		0.458	CDK5RAP2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055535.1	NM_018249		5	127	0	0	0	1	0	5	127					A	123215999	G	A	123215999	3	1	278	1	0	0	0	0	1	0	0	0	3146	1174	41	3	3225	3	CDK5RAP2	9	123215999	Missense_Mutation	SNP	G	TCGA-J4-A83K-01A-11D-A34U-08		123215999	17997432	15	12861											
INPP5E	56623	broad.mit.edu	37	chr9	139326360	139326360	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggcacaggagggcgtccaCgactgtgcgcccgccactca	7	5	13	16	4	1	0	1	0	0	0	2	2	2	1	3	3	1	1	3	3	0	0			TCGA-J4-A83K-01A-11D-A34U-08	TCGA-J4-A83K-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4d93fb9-005b-4fc2-9c1d-409da6817ba8	03fd3a9c-8dae-4e30-9439-2c509bcaae9c	g.chr9:139326360C>T	ENST00000371712.3	-	7	1867	c.1465G>A	c.(1465-1467)Gtg>Atg	p.V489M		NM_019892.4	NP_063945.2	Q10713	MPPA_HUMAN	inositol polyphosphate-5-phosphatase, 72 kDa	0					cellular protein metabolic process (GO:0044267)|protein targeting to mitochondrion (GO:0006626)|proteolysis (GO:0006508)	extracellular space (GO:0005615)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			NS(1)|endometrium(1)|lung(4)|skin(3)	9		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;8.36e-06)|Epithelial(140;1.4e-05)		AGGGCGTCCACGACTGTGCGC	0.667																																						ENST00000371712.3																			0				NS(1)|endometrium(1)|lung(4)|skin(3)	9						c.(1465-1467)Gtg>Atg		inositol polyphosphate-5-phosphatase, 72 kDa							38	36	37					9																	139326360		2200	4299	6499	SO:0001583	missense	56623					cilium axoneme|cytoskeleton|Golgi cisterna membrane	inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity	g.chr9:139326360C>T	AF187891	CCDS7000.1	9q34.3	2011-02-11			ENSG00000148384	ENSG00000148384			21474	protein-coding gene	gene with protein product		613037	"Joubert syndrome 1"	JBTS1		10764818, 10577920, 19668216	Standard	NM_019892		Approved	PPI5PIV, CORS1	uc004cho.3	Q9NRR6	OTTHUMG00000020927	ENST00000371712.3:c.1465G>A	9.37:g.139326360C>T	ENSP00000360777:p.Val489Met						p.V489M	NM_019892.4	NP_063945.2	Q9NRR6	INP5E_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;8.36e-06)|Epithelial(140;1.4e-05)	7	1867	-		Myeloproliferative disorder(178;0.0511)	489					B4DKL3|E7ET61|Q16639|Q5SXM9|Q8N513	Missense_Mutation	SNP	ENST00000371712.3	37	c.1465G>A	CCDS7000.1	.	.	.	.	.	.	.	.	.	.	c	13.48	2.251155	0.39797	.	.	ENSG00000148384	ENST00000371712	D	0.95980	-3.87	5.11	4.21	0.49690	Endonuclease/exonuclease/phosphatase (2);Inositol polyphosphate-related phosphatase (1);	0.000000	0.85682	D	0.000000	D	0.94644	0.8273	M	0.73962	2.25	0.80722	D	1	P;P	0.44659	0.84;0.84	B;B	0.42138	0.255;0.377	D	0.94191	0.7441	10	0.62326	D	0.03	-23.9739	12.9698	0.58505	0.0:0.9211:0.0:0.0789	.	455;489	Q9NRR6-2;Q9NRR6	.;INP5E_HUMAN	M	489	ENSP00000360777:V489M	ENSP00000360777:V489M	V	-	1	0	INPP5E	138446181	1.000000	0.71417	0.818000	0.32626	0.008000	0.06430	3.067000	0.50010	1.286000	0.44565	0.650000	0.86243	GTG		0.667	INPP5E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055058.1	NM_019892		6	21	0	0	0	1	0	6	21					T	139326360	C	T	139326360	3	4	278	1	0	0	0	0	1	0	0	0	7757	536	19	1	485	1	INPP5E	9	139326360	Missense_Mutation	SNP	C	TCGA-J4-A83K-01A-11D-A34U-08	16110361	139326360	1887071	16	12862											
KIAA1217	56243	broad.mit.edu	37	chr10	24832821	24832821	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aggacaggaaatgaacagaaCggagctgaacaagttcagcc	17	4	12	8	1	1	3	1	2	0	1	1	6	1	6	1	3	5	2	1	3	5	1	rs148213717		TCGA-J4-A83K-01A-11D-A34U-08	TCGA-J4-A83K-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4d93fb9-005b-4fc2-9c1d-409da6817ba8	03fd3a9c-8dae-4e30-9439-2c509bcaae9c	g.chr10:24832821C>T	ENST00000376454.3	+	19	4652	c.4622C>T	c.(4621-4623)aCg>aTg	p.T1541M	KIAA1217_ENST00000396445.1_Intron|KIAA1217_ENST00000396446.1_Intron|KIAA1217_ENST00000458595.1_Intron|KIAA1217_ENST00000376452.3_Intron|KIAA1217_ENST00000376462.1_Intron|KIAA1217_ENST00000307544.6_Intron|KIAA1217_ENST00000376451.2_Missense_Mutation_p.T1224M	NM_019590.3	NP_062536.2	Q5T5P2	SKT_HUMAN	KIAA1217	1541					embryonic skeletal system development (GO:0048706)	cytoplasm (GO:0005737)				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						ATGAACAGAACGGAGCTGAAC	0.502													C|||	1	0.000199681	0	0	5008	,	,		19575	0.001		0	False		,,,				2504	0					ENST00000376451.2																			0				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						c.(3670-3672)aCg>aTg		KIAA1217		C	,,MET/THR	1,4405	2.1+/-5.4	0,1,2202	78	76	77		,,4622	-1.1	0	10	dbSNP_134	77	0,8600		0,0,4300	no	intron,intron,missense	KIAA1217	NM_001098500.1,NM_001098501.1,NM_019590.3	,,81	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,,possibly-damaging	,,1541/1944	24832821	1,13005	2203	4300	6503	SO:0001583	missense	56243				embryonic skeletal system development	cytoplasm		g.chr10:24832821C>T	BX640796	CCDS31165.1, CCDS41496.1, CCDS60501.1, CCDS60502.1, CCDS60504.1, CCDS60505.1	10p12.31	2009-09-16			ENSG00000120549	ENSG00000120549			25428	protein-coding gene	gene with protein product	"sickle tail"					10574462	Standard	XM_005252500		Approved	DKFZP761L0424, SKT	uc001iru.4	Q5T5P2	OTTHUMG00000017824	ENST00000376454.3:c.4622C>T	10.37:g.24832821C>T	ENSP00000365637:p.Thr1541Met					KIAA1217_ENST00000376462.1_Intron|KIAA1217_ENST00000458595.1_Intron|KIAA1217_ENST00000376452.3_Intron|KIAA1217_ENST00000396445.1_Intron|KIAA1217_ENST00000396446.1_Intron|KIAA1217_ENST00000307544.6_Intron|KIAA1217_ENST00000376454.3_Missense_Mutation_p.T1541M	p.T1224M			Q5T5P2	SKT_HUMAN			14	3931	+			1541					A5LHW9|A6NLF3|A6PVQ5|A6PVQ6|A6PVQ7|B9EGK4|Q4KMG4|Q5T5P3|Q5T7H3|Q6MZZ6|Q6ZUI4|Q8WV45|Q9NSR2|Q9ULK3	Missense_Mutation	SNP	ENST00000376454.3	37	c.3671C>T	CCDS31165.1	.	.	.	.	.	.	.	.	.	.	C	8.020	0.759463	0.15846	2.27E-4	0.0	ENSG00000120549	ENST00000442879;ENST00000376454;ENST00000450158;ENST00000376451	T;T	0.32753	1.86;1.44	5.46	-1.07	0.09968	.	2.573990	0.01323	N	0.010993	T	0.18593	0.0446	L	0.29908	0.895	0.09310	N	1	B;P;B	0.35982	0.18;0.531;0.087	B;B;B	0.28465	0.057;0.09;0.006	T	0.05146	-1.0903	10	0.29301	T	0.29	.	3.209	0.06676	0.0952:0.392:0.2796:0.2332	.	1224;1224;1541	C9JRK3;Q5T5P2-3;Q5T5P2	.;.;SKT_HUMAN	M	1224;1541;1224;1224	ENSP00000365637:T1541M;ENSP00000365634:T1224M	ENSP00000365634:T1224M	T	+	2	0	KIAA1217	24872827	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.343000	0.07791	-0.854000	0.04131	-1.134000	0.01955	ACG		0.502	KIAA1217-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047223.2	NM_019590		12	34	0	0	0	1	0	12	34					T	24832821	C	T	24832821	3	4	278	1	0	0	0	0	1	0	0	0	8216	536	19	1	4696	1	KIAA1217	10	24832821	Missense_Mutation	SNP	C	TCGA-J4-A83K-01A-11D-A34U-08		24832821	110701926	17	12863											
C10orf54	64115	broad.mit.edu	37	chr10	73521442	73521442	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caccaggcagcagtagaggcCgctatccagcagggtcaggt	10	5	14	12	1	1	1	1	0	0	1	2	1	2	1	3	4	2	5	3	4	2	2			TCGA-J4-A83K-01A-11D-A34U-08	TCGA-J4-A83K-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4d93fb9-005b-4fc2-9c1d-409da6817ba8	03fd3a9c-8dae-4e30-9439-2c509bcaae9c	g.chr10:73521442C>T	ENST00000394957.3	-	2	482	c.424G>A	c.(424-426)Ggc>Agc	p.G142S	CDH23_ENST00000224721.6_Intron|C10orf54_ENST00000481568.2_5'UTR	NM_022153.1	NP_071436.1	Q9H7M9	GI24_HUMAN	chromosome 10 open reading frame 54	142	Ig-like.				BMP signaling pathway (GO:0030509)|negative regulation of CD4-positive, alpha-beta T cell proliferation (GO:2000562)|negative regulation of T cell cytokine production (GO:0002725)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of stem cell differentiation (GO:2000738)|stem cell differentiation (GO:0048863)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(2)|endometrium(1)|lung(1)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	9						CAGTAGAGGCCGCTATCCAGC	0.642																																						ENST00000394957.3																			0				breast(1)|central_nervous_system(2)|endometrium(1)|lung(1)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	9						c.(424-426)Ggc>Agc		chromosome 10 open reading frame 54							57	52	54					10																	73521442		2203	4300	6503	SO:0001583	missense	64115					integral to membrane	receptor activity	g.chr10:73521442C>T	AF193048	CCDS31218.1	10q22.1	2013-11-28			ENSG00000107738	ENSG00000107738		"Immunoglobulin superfamily / V-set domain containing"	30085	protein-coding gene	gene with protein product	"stress induced secreted protein 1"	615608				12975309	Standard	NM_022153		Approved	SISP1, GI24, B7-H5, B7H5	uc001jsd.3	Q9H7M9	OTTHUMG00000018426	ENST00000394957.3:c.424G>A	10.37:g.73521442C>T	ENSP00000378409:p.Gly142Ser					CDH23_ENST00000224721.6_Intron|C10orf54_ENST00000481568.1_5'UTR	p.G142S	NM_022153.1	NP_071436.1	Q9H7M9	GI24_HUMAN			2	482	-			142			Ig-like.		A1L0X9|A4ZYV1|A8MVH5|Q6UXF3|Q8WUG3|Q8WYZ8	Missense_Mutation	SNP	ENST00000394957.3	37	c.424G>A	CCDS31218.1	.	.	.	.	.	.	.	.	.	.	C	29.9	5.043517	0.93685	.	.	ENSG00000107738	ENST00000394957;ENST00000263569	T	0.14144	2.53	5.75	5.75	0.90469	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.40767	0.1130	M	0.72894	2.215	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.12372	-1.0550	10	0.87932	D	0	-16.6049	19.9417	0.97165	0.0:1.0:0.0:0.0	.	138;142	Q2TA85;Q9H7M9	.;GI24_HUMAN	S	142;138	ENSP00000378409:G142S	ENSP00000263569:G138S	G	-	1	0	C10orf54	73191448	1.000000	0.71417	0.965000	0.40720	0.689000	0.40095	5.617000	0.67716	2.720000	0.93068	0.655000	0.94253	GGC		0.642	C10orf54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048548.1	NM_022153		3	21	0	0	0	1	0	3	21					T	73521442	C	T	73521442	3	4	278	1	0	0	0	0	1	0	0	0	1607	652	23	2	535	2	C10orf54	10	73521442	Missense_Mutation	SNP	C	TCGA-J4-A83K-01A-11D-A34U-08	48688621	73521442	62013305	18	12864											
SORCS1	114815	broad.mit.edu	37	chr10	108431072	108431072	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttccttgcatacacttccgCtctgattttcgcttcttata	6	19	4	12	2	2	1	0	1	2	0	5	1	4	1	2	0	2	3	2	0	3	9			TCGA-J4-A83K-01A-11D-A34U-08	TCGA-J4-A83K-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4d93fb9-005b-4fc2-9c1d-409da6817ba8	03fd3a9c-8dae-4e30-9439-2c509bcaae9c	g.chr10:108431072C>G	ENST00000263054.6	-	16	2119	c.2112G>C	c.(2110-2112)gaG>gaC	p.E704D	SORCS1_ENST00000344440.6_Missense_Mutation_p.E704D|SORCS1_ENST00000369698.1_Missense_Mutation_p.E239D	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN	sortilin-related VPS10 domain containing receptor 1	704					neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	neuropeptide receptor activity (GO:0008188)			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		TACACTTCCGCTCTGATTTTC	0.443																																						ENST00000263054.6																			0				breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127						c.(2110-2112)gaG>gaC		sortilin-related VPS10 domain containing receptor 1							257	214	229					10																	108431072		2203	4300	6503	SO:0001583	missense	114815					integral to membrane	neuropeptide receptor activity|protein binding	g.chr10:108431072C>G	AF284756	CCDS7559.1	10q23-q25	2004-04-20			ENSG00000108018	ENSG00000108018			16697	protein-coding gene	gene with protein product		606283				11499680	Standard	NM_001206570		Approved	sorCS1	uc001kyl.3	Q8WY21	OTTHUMG00000019018	ENST00000263054.6:c.2112G>C	10.37:g.108431072C>G	ENSP00000263054:p.Glu704Asp					SORCS1_ENST00000369698.1_Missense_Mutation_p.E239D|SORCS1_ENST00000344440.6_Missense_Mutation_p.E704D	p.E704D	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN		Epithelial(162;1.66e-05)|all cancers(201;0.000689)	16	2119	-		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)	704					A2RRF4|Q59GG7|Q5JVT7|Q5JVT8|Q5VY14|Q86WQ1|Q86WQ2|Q9H1Y1|Q9H1Y2	Missense_Mutation	SNP	ENST00000263054.6	37	c.2112G>C	CCDS7559.1	.	.	.	.	.	.	.	.	.	.	C	7.662	0.685056	0.14973	.	.	ENSG00000108018	ENST00000369698;ENST00000263054;ENST00000344440	T;T;T	0.29655	1.56;1.56;1.56	5.45	2.46	0.29980	VPS10 (1);	0.178264	0.49305	D	0.000141	T	0.11495	0.0280	N	0.02916	-0.46	0.31775	N	0.631592	B;P;P;P;P	0.37352	0.295;0.458;0.591;0.456;0.591	B;B;B;B;B	0.36186	0.109;0.219;0.219;0.109;0.219	T	0.17048	-1.0382	9	.	.	.	-29.8449	9.0599	0.36427	0.0:0.6902:0.0:0.3098	.	704;704;704;704;704	A8K182;Q8WY21-4;Q8WY21-3;Q8WY21;Q8WY21-2	.;.;.;SORC1_HUMAN;.	D	239;704;704	ENSP00000358712:E239D;ENSP00000263054:E704D;ENSP00000345964:E704D	.	E	-	3	2	SORCS1	108421062	0.887000	0.30362	1.000000	0.80357	0.989000	0.77384	0.190000	0.17057	0.724000	0.32296	0.655000	0.94253	GAG		0.443	SORCS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050232.4	NM_052918		5	80	0	0	0	1	0	5	80					G	108431072	C	G	108431072	3	3	278	1	0	0	0	0	1	0	0	0	14930	796	28	5	1672	5	SORCS1	10	108431072	Missense_Mutation	SNP	C	TCGA-J4-A83K-01A-11D-A34U-08	34909630	108431072	27103675	19	12865											
FGFR2	2263	broad.mit.edu	37	chr10	123325040	123325040	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccggagtctctaggcgtggcGccctttatctgcaagtactc	6	11	11	13	3	2	0	0	0	2	0	4	1	2	1	2	3	2	2	2	3	4	4	rs55806379		TCGA-J4-A83K-01A-11D-A34U-08	TCGA-J4-A83K-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4d93fb9-005b-4fc2-9c1d-409da6817ba8	03fd3a9c-8dae-4e30-9439-2c509bcaae9c	g.chr10:123325040G>A	ENST00000358487.5	-	3	560	c.288C>T	c.(286-288)ggC>ggT	p.G96G	FGFR2_ENST00000346997.2_Silent_p.G96G|FGFR2_ENST00000369059.1_Intron|FGFR2_ENST00000351936.6_Silent_p.G96G|FGFR2_ENST00000357555.5_Intron|FGFR2_ENST00000360144.3_Intron|FGFR2_ENST00000490349.1_5'UTR|FGFR2_ENST00000369061.4_Silent_p.G96G|FGFR2_ENST00000359354.2_Silent_p.G96G|FGFR2_ENST00000369056.1_Silent_p.G96G|FGFR2_ENST00000369060.4_Silent_p.G96G|FGFR2_ENST00000457416.2_Silent_p.G96G|FGFR2_ENST00000356226.4_Intron	NM_000141.4	NP_000132.3	P21802	FGFR2_HUMAN	fibroblast growth factor receptor 2	96	Ig-like C2-type 1.				angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|axonogenesis (GO:0007409)|bone development (GO:0060348)|bone mineralization (GO:0030282)|bone morphogenesis (GO:0060349)|branch elongation involved in salivary gland morphogenesis (GO:0060667)|branching involved in labyrinthine layer morphogenesis (GO:0060670)|branching involved in prostate gland morphogenesis (GO:0060442)|branching involved in salivary gland morphogenesis (GO:0060445)|branching morphogenesis of a nerve (GO:0048755)|bud elongation involved in lung branching (GO:0060449)|cell fate commitment (GO:0045165)|cell-cell signaling (GO:0007267)|coronal suture morphogenesis (GO:0060365)|digestive tract development (GO:0048565)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic organ development (GO:0048568)|embryonic organ morphogenesis (GO:0048562)|embryonic pattern specification (GO:0009880)|endodermal digestive tract morphogenesis (GO:0061031)|epidermal growth factor receptor signaling pathway (GO:0007173)|epidermis morphogenesis (GO:0048730)|epithelial cell differentiation (GO:0030855)|epithelial cell proliferation involved in salivary gland morphogenesis (GO:0060664)|epithelial to mesenchymal transition (GO:0001837)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|fibroblast growth factor receptor signaling pathway involved in hemopoiesis (GO:0035603)|fibroblast growth factor receptor signaling pathway involved in mammary gland specification (GO:0060595)|fibroblast growth factor receptor signaling pathway involved in negative regulation of apoptotic process in bone marrow (GO:0035602)|fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development (GO:0035607)|fibroblast growth factor receptor signaling pathway involved in positive regulation of cell proliferation in bone marrow (GO:0035604)|gland morphogenesis (GO:0022612)|hair follicle morphogenesis (GO:0031069)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inner ear morphogenesis (GO:0042472)|insulin receptor signaling pathway (GO:0008286)|lacrimal gland development (GO:0032808)|lateral sprouting from an epithelium (GO:0060601)|lens fiber cell development (GO:0070307)|limb bud formation (GO:0060174)|lung alveolus development (GO:0048286)|lung development (GO:0030324)|lung lobe morphogenesis (GO:0060463)|lung-associated mesenchyme development (GO:0060484)|mammary gland bud formation (GO:0060615)|membranous septum morphogenesis (GO:0003149)|mesenchymal cell differentiation (GO:0048762)|mesenchymal cell differentiation involved in lung development (GO:0060915)|mesenchymal cell proliferation involved in lung development (GO:0060916)|mesodermal cell differentiation (GO:0048333)|midbrain development (GO:0030901)|morphogenesis of embryonic epithelium (GO:0016331)|multicellular organism growth (GO:0035264)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of mitosis (GO:0045839)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuromuscular junction development (GO:0007528)|neurotrophin TRK receptor signaling pathway (GO:0048011)|odontogenesis (GO:0042476)|orbitofrontal cortex development (GO:0021769)|organ growth (GO:0035265)|organ morphogenesis (GO:0009887)|otic vesicle formation (GO:0030916)|outflow tract septum morphogenesis (GO:0003148)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial cell proliferation involved in lung morphogenesis (GO:0060501)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of Wnt signaling pathway (GO:0030177)|post-embryonic development (GO:0009791)|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis (GO:0060527)|prostate epithelial cord elongation (GO:0060523)|prostate gland morphogenesis (GO:0060512)|protein autophosphorylation (GO:0046777)|pyramidal neuron development (GO:0021860)|regulation of branching involved in prostate gland morphogenesis (GO:0060687)|regulation of cell fate commitment (GO:0010453)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|regulation of morphogenesis of a branching structure (GO:0060688)|regulation of multicellular organism growth (GO:0040014)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoblast proliferation (GO:0033688)|regulation of smooth muscle cell differentiation (GO:0051150)|regulation of smoothened signaling pathway (GO:0008589)|reproductive structure development (GO:0048608)|skeletal system morphogenesis (GO:0048705)|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development (GO:0060529)|synaptic vesicle transport (GO:0048489)|ureteric bud development (GO:0001657)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|ventricular zone neuroblast division (GO:0021847)	cell cortex (GO:0005938)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|excitatory synapse (GO:0060076)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|fibroblast growth factor binding (GO:0017134)|fibroblast growth factor-activated receptor activity (GO:0005007)|heparin binding (GO:0008201)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)			breast(3)|central_nervous_system(3)|cervix(2)|endometrium(98)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|lung(21)|ovary(4)|skin(30)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(2)	181		Lung NSC(174;0.0841)|all_lung(145;0.106)|all_neural(114;0.107)	STAD - Stomach adenocarcinoma(1;7.52e-05)|all cancers(1;0.0722)	all cancers(201;9.73e-05)|GBM - Glioblastoma multiforme(135;0.0845)	Palifermin(DB00039)|Ponatinib(DB08901)|Regorafenib(DB08896)|Thalidomide(DB01041)	TAGGCGTGGCGCCCTTTATCT	0.522		5	Mis		"gastric. NSCLC, endometrial"		"Crouzon, Pfeiffer, and Apert syndromes"		Saethre-Chotzen syndrome;Apert syndrome				G|||	1	0.000199681	8e-04	0	5008	,	,		17730	0		0	False		,,,				2504	0					ENST00000358487.5		5		Dom	yes		10	10q26	2263	Mis	fibroblast growth factor receptor 2	yes	"Crouzon, Pfeiffer, and Apert syndromes"	E			"gastric. NSCLC, endometrial"		0				breast(3)|central_nervous_system(3)|cervix(2)|endometrium(98)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|lung(21)|ovary(4)|skin(30)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(2)	181						c.(286-288)ggC>ggT		fibroblast growth factor receptor 2	Palifermin(DB00039)						182	154	164					10																	123325040		2203	4300	6503	SO:0001819	synonymous_variant	2263	Saethre-Chotzen syndrome;Apert syndrome	Familial Cancer Database	Acrocephalosyndactyly type III;Acrocephalosyndactyly type I and II, ACS1. ACS2, incl Apert-Crouzon s.	angiogenesis|axonogenesis|bone mineralization|bone morphogenesis|branch elongation involved in salivary gland morphogenesis|branching involved in embryonic placenta morphogenesis|branching morphogenesis of a nerve|bud elongation involved in lung branching|cell fate commitment|cell growth|cell-cell signaling|cellular response to protein stimulus|embryonic digestive tract morphogenesis|embryonic pattern specification|epithelial cell proliferation involved in salivary gland morphogenesis|fibroblast growth factor receptor signaling pathway involved in hemopoiesis|fibroblast growth factor receptor signaling pathway involved in mammary gland specification|fibroblast growth factor receptor signaling pathway involved in negative regulation of apoptosis in bone marrow|fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development|fibroblast growth factor receptor signaling pathway involved in positive regulation of cell proliferation in bone marrow|hair follicle morphogenesis|insulin receptor signaling pathway|lacrimal gland development|lateral sprouting from an epithelium|limb bud formation|lung alveolus development|lung lobe morphogenesis|lung-associated mesenchyme development|mammary gland bud formation|membranous septum morphogenesis|mesenchymal cell differentiation involved in lung development|mesenchymal cell proliferation involved in lung development|midbrain development|multicellular organism growth|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|organ growth|otic vesicle formation|outflow tract septum morphogenesis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell cycle|positive regulation of cell division|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of ERK1 and ERK2 cascade|positive regulation of mesenchymal cell proliferation|positive regulation of transcription from RNA polymerase II promoter|post-embryonic development|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis|prostate epithelial cord elongation|pyramidal neuron development|regulation of branching involved in prostate gland morphogenesis|regulation of cell fate commitment|regulation of fibroblast growth factor receptor signaling pathway|regulation of multicellular organism growth|regulation of smooth muscle cell differentiation|regulation of smoothened signaling pathway|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development|ureteric bud development|ventricular cardiac muscle tissue morphogenesis|ventricular zone neuroblast division	cell cortex|cell surface|excitatory synapse|extracellular region|integral to membrane|nucleus|plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|heparin binding|protein binding	g.chr10:123325040G>A	AK026508	CCDS7620.2, CCDS31298.1, CCDS44485.1, CCDS44486.1, CCDS44487.1, CCDS44488.1, CCDS44489.1, CCDS53584.1, CCDS73210.1	10q25.3-q26	2013-01-11	2008-08-01		ENSG00000066468	ENSG00000066468		"CD molecules", "Immunoglobulin superfamily / I-set domain containing"	3689	protein-coding gene	gene with protein product	"Crouzon syndrome", "Pfeiffer syndrome"	176943	"bacteria-expressed kinase", "keratinocyte growth factor receptor", "craniofacial dysostosis 1", "Jackson-Weiss syndrome"	KGFR, BEK, CFD1, JWS			Standard	NM_022970		Approved	CEK3, TK14, TK25, ECT1, K-SAM, CD332	uc021pzy.1	P21802	OTTHUMG00000019175	ENST00000358487.5:c.288C>T	10.37:g.123325040G>A						FGFR2_ENST00000357555.5_Intron|FGFR2_ENST00000369059.1_Intron|FGFR2_ENST00000457416.2_Silent_p.G96G|FGFR2_ENST00000360144.3_Intron|FGFR2_ENST00000346997.2_Silent_p.G96G|FGFR2_ENST00000359354.2_Silent_p.G96G|FGFR2_ENST00000369056.1_Silent_p.G96G|FGFR2_ENST00000369060.4_Silent_p.G96G|FGFR2_ENST00000369061.4_Silent_p.G96G|FGFR2_ENST00000356226.4_Intron|FGFR2_ENST00000351936.6_Silent_p.G96G|FGFR2_ENST00000490349.1_5'UTR	p.G96G	NM_000141.4	NP_000132.3	P21802	FGFR2_HUMAN	STAD - Stomach adenocarcinoma(1;7.52e-05)|all cancers(1;0.0722)	all cancers(201;9.73e-05)|GBM - Glioblastoma multiforme(135;0.0845)	3	560	-		Lung NSC(174;0.0841)|all_lung(145;0.106)|all_neural(114;0.107)	96			Ig-like C2-type 1.		B4DFC2|E7EVR6|E9PCR0|P18443|Q01742|Q12922|Q14300|Q14301|Q14302|Q14303|Q14304|Q14305|Q14672|Q14718|Q14719|Q1KHY5|Q86YI4|Q8IXC7|Q96KL9|Q96KM0|Q96KM1|Q96KM2|Q9NZU2|Q9NZU3|Q9UD01|Q9UD02|Q9UIH3|Q9UIH4|Q9UIH5|Q9UIH6|Q9UIH7|Q9UIH8|Q9UM87|Q9UMC6|Q9UNS7|Q9UQH7|Q9UQH8|Q9UQH9|Q9UQI0	Silent	SNP	ENST00000358487.5	37	c.288C>T	CCDS31298.1																																																																																				0.522	FGFR2-001	KNOWN	non_canonical_conserved|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000050715.1	NM_022976, NM_000141		6	123	0	0	0	1	0	6	123					A	123325040	G	A	123325040	2	1	278	1	0	0	0	0	0	0	0	1	5866	1074	38	1		1	FGFR2	10	123325040	Silent	SNP	G	TCGA-J4-A83K-01A-11D-A34U-08	14893968	123325040	12209707	20	12866											
PTPN5	84867	broad.mit.edu	37	chr11	18762159	18762159	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agggaactcacaaagaattcCgcctgcagcaggaaagggtc	14	5	12	10	1	1	1	1	0	0	1	3	3	2	3	2	3	3	2	2	3	4	1			TCGA-J4-A83K-01A-11D-A34U-08	TCGA-J4-A83K-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4d93fb9-005b-4fc2-9c1d-409da6817ba8	03fd3a9c-8dae-4e30-9439-2c509bcaae9c	g.chr11:18762159C>T	ENST00000358540.2	-	8	1336	c.906G>A	c.(904-906)gcG>gcA	p.A302A	PTPN5_ENST00000477854.1_Silent_p.A106A|PTPN5_ENST00000496201.2_5'Flank|PTPN5_ENST00000396171.4_Silent_p.A302A|RP11-1081L13.4_ENST00000527285.1_RNA|PTPN5_ENST00000396167.2_Silent_p.A270A|PTPN5_ENST00000396170.1_Silent_p.A270A|PTPN5_ENST00000396168.1_Silent_p.A278A	NM_006906.1	NP_008837.1	P54829	PTN5_HUMAN	protein tyrosine phosphatase, non-receptor type 5 (striatum-enriched)	302	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	phosphotyrosine binding (GO:0001784)|protein tyrosine phosphatase activity (GO:0004725)			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(13)|ovary(2)|prostate(1)|skin(4)	27						CAAAGAATTCCGCCTGCAGCA	0.607																																						ENST00000396170.1																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(13)|ovary(2)|prostate(1)|skin(4)	27						c.(808-810)gcG>gcA		protein tyrosine phosphatase, non-receptor type 5 (striatum-enriched)							64	68	67					11																	18762159		2199	4293	6492	SO:0001819	synonymous_variant	84867					integral to membrane	phosphotyrosine binding|protein tyrosine phosphatase activity	g.chr11:18762159C>T	BC064807	CCDS7845.1, CCDS41626.1, CCDS60746.1	11p15.1	2011-06-09			ENSG00000110786	ENSG00000110786		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"	9657	protein-coding gene	gene with protein product		176879				1714595	Standard	NM_001278236		Approved	STEP, PTPSTEP	uc001mpc.4	P54829	OTTHUMG00000134304	ENST00000358540.2:c.906G>A	11.37:g.18762159C>T						PTPN5_ENST00000396171.4_Silent_p.A302A|PTPN5_ENST00000396168.1_Silent_p.A278A|PTPN5_ENST00000396167.2_Silent_p.A270A|PTPN5_ENST00000477854.1_Silent_p.A106A|PTPN5_ENST00000358540.2_Silent_p.A302A	p.A270A	NM_001278236.1	NP_001265165.1	P54829	PTN5_HUMAN			8	2074	-			302					B3KXG7|B7Z386|B7ZAF5|D3DQY7|Q6P1Z2|Q8N2A1|Q8NDP8	Silent	SNP	ENST00000358540.2	37	c.810G>A	CCDS7845.1																																																																																				0.607	PTPN5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000259196.2	NM_001039970		15	23	0	0	0	1	0	15	23					T	18762159	C	T	18762159	2	4	278	1	0	0	0	0	0	0	0	1	12791	639	23	2		2	PTPN5	11	18762159	Silent	SNP	C	TCGA-J4-A83K-01A-11D-A34U-08		18762159	116244357	21	12867											
LGR5	8549	broad.mit.edu	37	chr12	71978097	71978097	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tctatggtaaaacacattgcCctgttgctcttcaccaactg	10	13	6	12	0	3	0	1	0	2	0	3	0	3	0	2	1	4	3	2	1	4	5			TCGA-J4-A83K-01A-11D-A34U-08	TCGA-J4-A83K-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4d93fb9-005b-4fc2-9c1d-409da6817ba8	03fd3a9c-8dae-4e30-9439-2c509bcaae9c	g.chr12:71978097C>A	ENST00000266674.5	+	18	2618	c.2307C>A	c.(2305-2307)gcC>gcA	p.A769A	RP11-186F10.2_ENST00000546601.1_RNA|LGR5_ENST00000540815.2_Silent_p.A745A|LGR5_ENST00000536515.1_Silent_p.A697A			O75473	LGR5_HUMAN	leucine-rich repeat containing G protein-coupled receptor 5	769					G-protein coupled receptor signaling pathway (GO:0007186)|inner ear development (GO:0048839)|positive regulation of canonical Wnt signaling pathway (GO:0090263)	integral component of plasma membrane (GO:0005887)|trans-Golgi network membrane (GO:0032588)	G-protein coupled receptor activity (GO:0004930)|transmembrane signaling receptor activity (GO:0004888)	p.A769A(1)	NUP107/LGR5(2)	endometrium(2)|kidney(3)|large_intestine(2)|lung(24)|ovary(1)|pancreas(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	48						AACACATTGCCCTGTTGCTCT	0.433																																						ENST00000266674.5																		NUP107/LGR5(2)	1	Substitution - coding silent(1)	p.A769A(1)	lung(1)	endometrium(2)|kidney(3)|large_intestine(2)|lung(24)|ovary(1)|pancreas(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	48						c.(2305-2307)gcC>gcA		leucine-rich repeat containing G protein-coupled receptor 5							148	144	146					12																	71978097		2203	4300	6503	SO:0001819	synonymous_variant	8549					integral to plasma membrane	protein-hormone receptor activity	g.chr12:71978097C>A	AF062006	CCDS9000.1, CCDS61194.1, CCDS61195.1	12q22-q23	2012-08-21	2011-01-25	2004-11-12				"GPCR / Class A : Orphans"	4504	protein-coding gene	gene with protein product		606667	"G protein-coupled receptor 49", "leucine-rich repeat-containing G protein-coupled receptor 5"	GPR67, GPR49		9642114	Standard	NM_003667		Approved	HG38, FEX	uc001swl.4	O75473	OTTHUMG00000169543	ENST00000266674.5:c.2307C>A	12.37:g.71978097C>A						LGR5_ENST00000536515.1_Silent_p.A697A|LGR5_ENST00000540815.2_Silent_p.A745A	p.A769A			O75473	LGR5_HUMAN			18	2618	+			769					D8MCT0|Q4VAM0|Q4VAM2|Q9UP75	Silent	SNP	ENST00000266674.5	37	c.2307C>A	CCDS9000.1	.	.	.	.	.	.	.	.	.	.	C	6.362	0.434811	0.12045	.	.	ENSG00000139292	ENST00000451585	.	.	.	5.85	-11.7	0.00046	.	.	.	.	.	T	0.55657	0.1934	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.70506	-0.4853	5	0.31617	T	0.26	.	12.05	0.53501	0.0783:0.6226:0.1578:0.1413	.	.	.	.	T	749	.	ENSP00000414152:P749T	P	+	1	0	LGR5	70264364	0.535000	0.26370	0.021000	0.16686	0.976000	0.68499	-0.180000	0.09754	-2.925000	0.00303	0.655000	0.94253	CCT		0.433	LGR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404744.1	NM_003667		24	85	1	0	3.7963e-18	1	4.14781e-18	24	85					A	71978097	C	A	71978097	2	1	278	1	0	0	0	0	0	0	0	1	8757	610	22	5		5	LGR5	12	71978097	Silent	SNP	C	TCGA-J4-A83K-01A-11D-A34U-08		71978097	61873798	22	12868											
TRHDE	29953	broad.mit.edu	37	chr12	72969157	72969157	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tattaattgatcaattaatcCggaatcatgaggtacactcc	14	13	6	8	1	2	2	2	2	0	0	4	3	4	3	2	2	1	1	2	2	6	5	rs138433001	byFrequency	TCGA-J4-A83K-01A-11D-A34U-08	TCGA-J4-A83K-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4d93fb9-005b-4fc2-9c1d-409da6817ba8	03fd3a9c-8dae-4e30-9439-2c509bcaae9c	g.chr12:72969157C>T	ENST00000261180.4	+	11	2215	c.2119C>T	c.(2119-2121)Cgg>Tgg	p.R707W	TRHDE_ENST00000549138.1_3'UTR	NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	707					cell-cell signaling (GO:0007267)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.R707W(1)		NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						TCAATTAATCCGGAATCATGA	0.343																																						ENST00000261180.4																			1	Substitution - Missense(1)	p.R707W(1)	lung(1)	NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						c.(2119-2121)Cgg>Tgg		thyrotropin-releasing hormone degrading enzyme		C	TRP/ARG	0,4406		0,0,2203	98	97	97		2119	3	1	12	dbSNP_134	97	3,8597	3.0+/-9.4	0,3,4297	no	missense	TRHDE	NM_013381.2	101	0,3,6500	TT,TC,CC		0.0349,0.0,0.0231	probably-damaging	707/1025	72969157	3,13003	2203	4300	6503	SO:0001583	missense	29953				cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding	g.chr12:72969157C>T	AF126372	CCDS9004.1	12q15-q21	2012-07-25		2005-08-09		ENSG00000072657	3.4.19.6		30748	protein-coding gene	gene with protein product	"pyroglutamyl-peptidase II", "pyroglutamyl aminopeptidase II", "TRH-specific aminopeptidase"	606950				10491199, 12975309	Standard	NM_013381		Approved	PGPEP2, TRH-DE, PAP-II	uc001sxa.3	Q9UKU6		ENST00000261180.4:c.2119C>T	12.37:g.72969157C>T	ENSP00000261180:p.Arg707Trp					TRHDE_ENST00000549138.1_3'UTR	p.R707W	NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN			11	2215	+			707					A5PL19|Q6UWJ4	Missense_Mutation	SNP	ENST00000261180.4	37	c.2119C>T	CCDS9004.1	.	.	.	.	.	.	.	.	.	.	C	15.98	2.992886	0.54041	0.0	3.49E-4	ENSG00000072657	ENST00000261180	T	0.03496	3.91	5.52	3.0	0.34707	.	0.149026	0.64402	D	0.000011	T	0.11324	0.0276	L	0.52573	1.65	0.53688	D	0.999974	D	0.76494	0.999	D	0.63793	0.918	T	0.01688	-1.1295	10	0.72032	D	0.01	.	12.9458	0.58371	0.7439:0.2561:0.0:0.0	.	707	Q9UKU6	TRHDE_HUMAN	W	707	ENSP00000261180:R707W	ENSP00000261180:R707W	R	+	1	2	TRHDE	71255424	1.000000	0.71417	1.000000	0.80357	0.780000	0.44128	2.731000	0.47343	1.032000	0.39892	-0.402000	0.06365	CGG		0.343	TRHDE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405380.1	NM_013381		11	75	0	0	0	1	0	11	75					T	72969157	C	T	72969157	3	4	278	1	0	0	0	0	1	0	0	0	16476	643	23	2	2161	2	TRHDE	12	72969157	Missense_Mutation	SNP	C	TCGA-J4-A83K-01A-11D-A34U-08	991060	72969157	60882738	23	12869											
VPS29	51699	broad.mit.edu	37	chr12	110930973	110930973	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatggaataacttgatgtcCatggatcagaccaattttga	13	12	8	8	0	1	3	1	2	0	1	2	5	2	5	3	2	1	0	3	2	3	4			TCGA-J4-A83K-01A-11D-A34U-08	TCGA-J4-A83K-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4d93fb9-005b-4fc2-9c1d-409da6817ba8	03fd3a9c-8dae-4e30-9439-2c509bcaae9c	g.chr12:110930973C>T	ENST00000549578.1	-	3	324	c.259G>A	c.(259-261)Gga>Aga	p.G87R	VPS29_ENST00000360579.7_Missense_Mutation_p.G91R|VPS29_ENST00000549970.1_5'UTR|VPS29_ENST00000552130.2_5'UTR|VPS29_ENST00000447578.2_5'UTR|VPS29_ENST00000546588.1_Missense_Mutation_p.G119R	NM_016226.3	NP_057310.1	Q9UBQ0	VPS29_HUMAN	vacuolar protein sorting 29 homolog (S. cerevisiae)	87					protein transport (GO:0015031)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)	metal ion binding (GO:0046872)|phosphoserine phosphatase activity (GO:0004647)			kidney(1)|large_intestine(1)|lung(1)|prostate(1)	4						ACTTGATGTCCATGGATCAGA	0.383																																						ENST00000549578.1																			0				kidney(1)|large_intestine(1)|lung(1)|prostate(1)	4						c.(259-261)Gga>Aga		vacuolar protein sorting 29 homolog (S. cerevisiae)							76	71	73					12																	110930973		1876	4110	5986	SO:0001583	missense	51699				protein transport	endosome membrane	metal ion binding|phosphoserine phosphatase activity	g.chr12:110930973C>T	AF193795	CCDS41832.1, CCDS53832.1, CCDS73525.1	12q24	2006-12-19	2006-12-19			ENSG00000111237			14340	protein-coding gene	gene with protein product		606932	"vacuolar protein sorting 29 (yeast homolog)", "vacuolar protein sorting 29 (yeast)"			11062004	Standard	NM_001282151		Approved	PEP11, DC7, DC15	uc001tqx.3	Q9UBQ0	OTTHUMG00000169527	ENST00000549578.1:c.259G>A	12.37:g.110930973C>T	ENSP00000447058:p.Gly87Arg					VPS29_ENST00000549970.1_5'UTR|VPS29_ENST00000546588.1_Missense_Mutation_p.G119R|VPS29_ENST00000552130.2_5'UTR|VPS29_ENST00000447578.2_5'UTR|VPS29_ENST00000360579.7_Missense_Mutation_p.G91R	p.G87R	NM_016226.3	NP_057310.1	Q9UBQ0	VPS29_HUMAN			3	324	-			87					Q502Y5|Q6FIF8|Q6IAH3|Q9H0W0|Q9NRP1|Q9NRU7	Missense_Mutation	SNP	ENST00000549578.1	37	c.259G>A	CCDS41832.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	34|34	5.386097|5.386097	0.95967|0.95967	.|.	.|.	ENSG00000111237|ENSG00000111237	ENST00000549578;ENST00000397678;ENST00000546588|ENST00000360579	T;T|.	0.25085|.	1.82;1.82|.	6.03|6.03	6.03|6.03	0.97812|0.97812	Calcineurin-like phosphoesterase superfamily domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|.	0.88709|.	0.6510|.	H|H	0.96175|0.96175	3.78|3.78	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.97110|.	1.0;1.0|.	D|.	0.91080|.	0.4899|.	10|.	0.87932|.	D|.	0|.	-5.1632|-5.1632	20.5596|20.5596	0.99324|0.99324	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	87;91|.	Q9UBQ0;Q9UBQ0-2|.	VPS29_HUMAN;.|.	R|X	87;91;119|103	ENSP00000447058:G87R;ENSP00000449044:G119R|.	ENSP00000380795:G91R|.	G|W	-|-	1|2	0|0	VPS29|VPS29	109415356|109415356	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.970000|0.970000	0.65996|0.65996	7.758000|7.758000	0.85224|0.85224	2.868000|2.868000	0.98415|0.98415	0.555000|0.555000	0.69702|0.69702	GGA|TGG		0.383	VPS29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404623.1			3	46	0	0	0	1	0	3	46					T	110930973	C	T	110930973	3	4	278	1	0	0	0	0	1	0	0	0	17197	603	21	3	297	3	VPS29	12	110930973	Missense_Mutation	SNP	C	TCGA-J4-A83K-01A-11D-A34U-08	37961816	110930973	22920922	24	12870											
THSD1	55901	broad.mit.edu	37	chr13	52951824	52951824	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtgactgggggacggtccccGacgagctctgtggggctctg	4	8	18	11	3	2	1	0	1	2	0	3	4	3	2	2	5	1	2	2	5	0	0			TCGA-J4-A83K-01A-11D-A34U-08	TCGA-J4-A83K-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4d93fb9-005b-4fc2-9c1d-409da6817ba8	03fd3a9c-8dae-4e30-9439-2c509bcaae9c	g.chr13:52951824G>A	ENST00000258613.4	-	5	2459	c.2281C>T	c.(2281-2283)Cgg>Tgg	p.R761W	THSD1_ENST00000349258.4_Missense_Mutation_p.R708W|THSD1_ENST00000544466.1_Missense_Mutation_p.R382W	NM_018676.3	NP_061146.1	Q9NS62	THSD1_HUMAN	thrombospondin, type I, domain containing 1	761					hematopoietic progenitor cell differentiation (GO:0002244)	cell periphery (GO:0071944)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)				breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		Breast(56;0.000207)|Lung NSC(96;0.00145)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.8e-08)		GACGGTCCCCGACGAGCTCTG	0.552																																						ENST00000349258.4																			0				breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						c.(2122-2124)Cgg>Tgg		thrombospondin, type I, domain containing 1							120	126	124					13																	52951824		2203	4300	6503	SO:0001583	missense	55901					extracellular region|integral to membrane|intracellular membrane-bounded organelle		g.chr13:52951824G>A	AK096289	CCDS9432.1, CCDS9433.1	13q14.13	2010-04-20	2004-03-11		ENSG00000136114	ENSG00000136114			17754	protein-coding gene	gene with protein product			"thrombospondin, type I, domain 1"				Standard	NM_018676		Approved	TMTSP	uc001vgo.3	Q9NS62	OTTHUMG00000016963	ENST00000258613.4:c.2281C>T	13.37:g.52951824G>A	ENSP00000258613:p.Arg761Trp					THSD1_ENST00000544466.1_Missense_Mutation_p.R382W|THSD1_ENST00000258613.4_Missense_Mutation_p.R761W	p.R708W	NM_199263.2	NP_954872.1	Q9NS62	THSD1_HUMAN		GBM - Glioblastoma multiforme(99;2.8e-08)	4	2666	-		Breast(56;0.000207)|Lung NSC(96;0.00145)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)	761					A2A3J3|B2RCF5|Q6P3U1|Q6UXZ2	Missense_Mutation	SNP	ENST00000258613.4	37	c.2122C>T	CCDS9432.1	.	.	.	.	.	.	.	.	.	.	G	10.84	1.462806	0.26248	.	.	ENSG00000136114	ENST00000349258;ENST00000544466;ENST00000258613	T;T;T	0.42900	1.65;0.96;1.82	5.38	2.89	0.33648	.	0.049277	0.85682	D	0.000000	T	0.38772	0.1053	M	0.71581	2.175	0.45284	D	0.998283	P;D	0.53745	0.75;0.962	B;B	0.36808	0.073;0.233	T	0.45483	-0.9258	10	0.72032	D	0.01	-18.6555	12.8782	0.58001	0.0:0.0:0.3894:0.6106	.	708;761	Q9NS62-2;Q9NS62	.;THSD1_HUMAN	W	708;382;761	ENSP00000340650:R708W;ENSP00000438512:R382W;ENSP00000258613:R761W	ENSP00000258613:R761W	R	-	1	2	THSD1	51849825	0.378000	0.25114	0.901000	0.35422	0.541000	0.35023	0.809000	0.27168	0.422000	0.26005	-0.474000	0.04947	CGG		0.552	THSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045058.3			13	106	0	0	0	1	0	13	106					A	52951824	G	A	52951824	3	1	278	1	0	0	0	0	1	0	0	0	15874	1057	37	2	281	2	THSD1	13	52951824	Missense_Mutation	SNP	G	TCGA-J4-A83K-01A-11D-A34U-08		52951824	62218054	25	12871											
IRS2	8660	broad.mit.edu	37	chr13	110436686	110436686	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcagggagtaggtcctcttgCgcagccctcggtccaggtcc	5	9	13	14	2	2	0	1	0	1	0	6	1	5	1	4	4	2	2	4	4	1	2			TCGA-J4-A83K-01A-11D-A34U-08	TCGA-J4-A83K-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4d93fb9-005b-4fc2-9c1d-409da6817ba8	03fd3a9c-8dae-4e30-9439-2c509bcaae9c	g.chr13:110436686C>T	ENST00000375856.3	-	1	2229	c.1715G>A	c.(1714-1716)cGc>cAc	p.R572H		NM_003749.2	NP_003740.2	Q9Y4H2	IRS2_HUMAN	insulin receptor substrate 2	572					brain development (GO:0007420)|cell proliferation (GO:0008283)|cellular response to glucose stimulus (GO:0071333)|cellular response to insulin stimulus (GO:0032869)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lipid homeostasis (GO:0055088)|mammary gland development (GO:0030879)|negative regulation of B cell apoptotic process (GO:0002903)|negative regulation of kinase activity (GO:0033673)|negative regulation of plasma membrane long-chain fatty acid transport (GO:0010748)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fatty acid beta-oxidation (GO:0032000)|positive regulation of glucose import (GO:0046326)|positive regulation of glucose metabolic process (GO:0010907)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of insulin secretion (GO:0032024)|positive regulation of mesenchymal cell proliferation (GO:0002053)|regulation of lipid metabolic process (GO:0019216)|response to glucose (GO:0009749)|signal transduction (GO:0007165)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	signal transducer activity (GO:0004871)			kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	19	all_cancers(4;7.57e-15)|all_epithelial(4;5.91e-09)|all_lung(23;7.64e-07)|Lung NSC(43;0.000183)|Colorectal(4;0.00159)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0155)	Breast(118;0.159)	all cancers(43;0.00815)|BRCA - Breast invasive adenocarcinoma(86;0.11)|Epithelial(84;0.127)|GBM - Glioblastoma multiforme(44;0.147)			GGTCCTCTTGCGCAGCCCTCG	0.692																																					Melanoma(100;613 2409 40847)	ENST00000375856.3																			0				kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	19						c.(1714-1716)cGc>cAc		insulin receptor substrate 2							12	15	14					13																	110436686		2170	4266	6436	SO:0001583	missense	8660				fibroblast growth factor receptor signaling pathway|glucose metabolic process|insulin receptor signaling pathway|lipid homeostasis|negative regulation of B cell apoptosis|negative regulation of kinase activity|negative regulation of plasma membrane long-chain fatty acid transport|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of B cell proliferation|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin secretion|response to glucose stimulus	cytosol|plasma membrane	insulin receptor binding|signal transducer activity	g.chr13:110436686C>T	AB000732	CCDS9510.1	13q34	2013-01-10			ENSG00000185950	ENSG00000185950		"Pleckstrin homology (PH) domain containing"	6126	protein-coding gene	gene with protein product		600797				9312143	Standard	NM_003749		Approved		uc001vqv.3	Q9Y4H2	OTTHUMG00000017338	ENST00000375856.3:c.1715G>A	13.37:g.110436686C>T	ENSP00000365016:p.Arg572His						p.R572H	NM_003749.2	NP_003740.2	Q9Y4H2	IRS2_HUMAN	all cancers(43;0.00815)|BRCA - Breast invasive adenocarcinoma(86;0.11)|Epithelial(84;0.127)|GBM - Glioblastoma multiforme(44;0.147)		1	2229	-	all_cancers(4;7.57e-15)|all_epithelial(4;5.91e-09)|all_lung(23;7.64e-07)|Lung NSC(43;0.000183)|Colorectal(4;0.00159)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0155)	Breast(118;0.159)	572					Q96RR2|Q9BZG0|Q9Y6I5	Missense_Mutation	SNP	ENST00000375856.3	37	c.1715G>A	CCDS9510.1	.	.	.	.	.	.	.	.	.	.	C	16.90	3.250842	0.59212	.	.	ENSG00000185950	ENST00000375856	T	0.19669	2.13	3.62	3.62	0.41486	.	0.000000	0.85682	U	0.000000	T	0.45637	0.1352	M	0.73217	2.22	0.47905	D	0.99954	D	0.89917	1.0	D	0.85130	0.997	T	0.53251	-0.8465	10	0.87932	D	0	-13.8666	15.5047	0.75728	0.0:1.0:0.0:0.0	.	572	Q9Y4H2	IRS2_HUMAN	H	572	ENSP00000365016:R572H	ENSP00000365016:R572H	R	-	2	0	IRS2	109234687	0.487000	0.25988	0.990000	0.47175	0.599000	0.36880	4.674000	0.61612	1.857000	0.53885	0.549000	0.68633	CGC		0.692	IRS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045755.1	NM_003749		6	18	0	0	0	1	0	6	18					T	110436686	C	T	110436686	3	4	278	1	0	0	0	0	1	0	0	0	7841	768	27	1	2309	1	IRS2	13	110436686	Missense_Mutation	SNP	C	TCGA-J4-A83K-01A-11D-A34U-08	57484862	110436686	4733192	26	12872											
ARNT2	9915	broad.mit.edu	37	chr15	80806707	80806707	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gagaagcccaatatgctgtgGtccactgtacaggatacatc	12	9	10	10	0	0	1	0	0	0	1	2	3	1	2	2	2	4	2	2	2	5	3			TCGA-J4-A83K-01A-11D-A34U-08	TCGA-J4-A83K-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4d93fb9-005b-4fc2-9c1d-409da6817ba8	03fd3a9c-8dae-4e30-9439-2c509bcaae9c	g.chr15:80806707G>C	ENST00000303329.4	+	8	1003	c.838G>C	c.(838-840)Gtc>Ctc	p.V280L	ARNT2_ENST00000527771.1_Missense_Mutation_p.V269L|ARNT2_ENST00000533983.1_Missense_Mutation_p.V269L	NM_014862.3	NP_055677.3	Q9HBZ2	ARNT2_HUMAN	aryl-hydrocarbon receptor nuclear translocator 2	280					central nervous system development (GO:0007417)|in utero embryonic development (GO:0001701)|negative regulation of apoptotic process (GO:0043066)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|response to estradiol (GO:0032355)|response to hypoxia (GO:0001666)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	aryl hydrocarbon receptor binding (GO:0017162)|DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|pancreas(2)|prostate(2)|skin(1)	35			BRCA - Breast invasive adenocarcinoma(143;0.134)			ATATGCTGTGGTCCACTGTAC	0.488																																						ENST00000533983.1																			0				NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|pancreas(2)|prostate(2)|skin(1)	35						c.(805-807)Gtc>Ctc		aryl-hydrocarbon receptor nuclear translocator 2							181	176	178					15																	80806707		2203	4300	6503	SO:0001583	missense	9915				central nervous system development|in utero embryonic development|response to hypoxia		aryl hydrocarbon receptor binding|DNA binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr15:80806707G>C	AB002305	CCDS32307.1	15q25.1	2013-05-21			ENSG00000172379	ENSG00000172379		"Basic helix-loop-helix proteins"	16876	protein-coding gene	gene with protein product		606036				11247670	Standard	NM_014862		Approved	KIAA0307, bHLHe1	uc002bfr.3	Q9HBZ2	OTTHUMG00000165478	ENST00000303329.4:c.838G>C	15.37:g.80806707G>C	ENSP00000307479:p.Val280Leu					ARNT2_ENST00000527771.1_Missense_Mutation_p.V269L|ARNT2_ENST00000303329.4_Missense_Mutation_p.V280L	p.V269L			Q9HBZ2	ARNT2_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.134)		9	1144	+			280					B4DIS7|O15024|Q8IYC2	Missense_Mutation	SNP	ENST00000303329.4	37	c.805G>C	CCDS32307.1	.	.	.	.	.	.	.	.	.	.	G	27.1	4.800120	0.90538	.	.	ENSG00000172379	ENST00000360062;ENST00000303329;ENST00000540859	T	0.17370	2.28	4.72	4.72	0.59763	.	0.000000	0.85682	D	0.000000	T	0.38772	0.1053	M	0.85945	2.785	0.80722	D	1	P	0.39094	0.659	P	0.50136	0.632	T	0.16453	-1.0402	10	0.33141	T	0.24	.	16.9578	0.86264	0.0:0.0:1.0:0.0	.	280	Q9HBZ2	ARNT2_HUMAN	L	269;280;280	ENSP00000307479:V280L	ENSP00000307479:V280L	V	+	1	0	ARNT2	78593762	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	8.170000	0.89673	2.614000	0.88457	0.585000	0.79938	GTC		0.488	ARNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384389.2			55	121	0	0	0	1	0	55	121					C	80806707	G	C	80806707	3	2	278	1	0	0	0	0	1	0	0	0	966	1261	44	5	868	5	ARNT2	15	80806707	Missense_Mutation	SNP	G	TCGA-J4-A83K-01A-11D-A34U-08		80806707	21724685	27	12873											
ALPK3	57538	broad.mit.edu	37	chr15	85403112	85403112	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gagcacggctcggcctccacCgacttctgcctcagccctga	6	7	10	18	3	2	1	1	1	1	0	4	3	3	1	5	2	3	2	5	2	0	1	rs145385507	byFrequency	TCGA-J4-A83K-01A-11D-A34U-08	TCGA-J4-A83K-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4d93fb9-005b-4fc2-9c1d-409da6817ba8	03fd3a9c-8dae-4e30-9439-2c509bcaae9c	g.chr15:85403112C>T	ENST00000258888.5	+	8	4844	c.4677C>T	c.(4675-4677)acC>acT	p.T1559T		NM_020778.4	NP_065829.3	Q96L96	ALPK3_HUMAN	alpha-kinase 3	1559	Ig-like 2.				heart development (GO:0007507)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	81			BRCA - Breast invasive adenocarcinoma(143;0.0587)			CGGCCTCCACCGACTTCTGCC	0.677																																						ENST00000258888.5																			0				NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	81						c.(4675-4677)acC>acT		alpha-kinase 3		C		10,4396	17.9+/-39.9	0,10,2193	57	55	56		4677	-11	0	15	dbSNP_134	56	0,8598		0,0,4299	no	coding-synonymous	ALPK3	NM_020778.4		0,10,6492	TT,TC,CC		0.0,0.227,0.0769		1559/1908	85403112	10,12994	2203	4299	6502	SO:0001819	synonymous_variant	57538				heart development	nucleus	ATP binding|protein serine/threonine kinase activity	g.chr15:85403112C>T	AY044449	CCDS10333.1	15q25.2	2013-01-29			ENSG00000136383	ENSG00000136383		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	17574	protein-coding gene	gene with protein product	"myocyte induction differentiation originator", "muscle alpha-kinase"					10021370	Standard	NM_020778		Approved	MAK, KIAA1330, Midori	uc002ble.3	Q96L96	OTTHUMG00000148667	ENST00000258888.5:c.4677C>T	15.37:g.85403112C>T							p.T1559T	NM_020778.4	NP_065829.3	Q96L96	ALPK3_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0587)		8	4844	+			1559			Ig-like 2.		Q9P2L6	Silent	SNP	ENST00000258888.5	37	c.4677C>T	CCDS10333.1																																																																																				0.677	ALPK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000308997.1	NM_020778		24	70	0	0	0	1	0	24	70					T	85403112	C	T	85403112	2	4	278	1	0	0	0	0	0	0	0	1	546	639	23	2		2	ALPK3	15	85403112	Silent	SNP	C	TCGA-J4-A83K-01A-11D-A34U-08	4596405	85403112	17128280	28	12874											
CREBBP	1387	broad.mit.edu	37	chr16	3817735	3817735	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctactttttttgcgcggcTgcgaaggagatgttgactga	7	13	13	8	3	0	3	0	2	0	1	0	5	0	3	1	2	3	2	1	2	2	5			TCGA-J4-A83K-01A-11D-A34U-08	TCGA-J4-A83K-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4d93fb9-005b-4fc2-9c1d-409da6817ba8	03fd3a9c-8dae-4e30-9439-2c509bcaae9c	g.chr16:3817735T>C	ENST00000262367.5	-	16	4045	c.3236A>G	c.(3235-3237)cAg>cGg	p.Q1079R	CREBBP_ENST00000382070.3_Missense_Mutation_p.Q1041R	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	1079					cellular lipid metabolic process (GO:0044255)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|embryonic digit morphogenesis (GO:0042733)|gene expression (GO:0010467)|germ-line stem cell maintenance (GO:0030718)|histone acetylation (GO:0016573)|homeostatic process (GO:0042592)|innate immune response (GO:0045087)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein complex assembly (GO:0006461)|regulation of smoothened signaling pathway (GO:0008589)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|response to hypoxia (GO:0001666)|rhythmic process (GO:0048511)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nuclear body (GO:0016604)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|histone acetyltransferase activity (GO:0004402)|MRF binding (GO:0043426)|p53 binding (GO:0002039)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		TTTGCGCGGCTGCGAAGGAGA	0.418			"T, N, F, Mis, O"	"MLL, MORF, RUNXBP2"	"ALL, AML, DLBCL, B-NHL "		Rubinstein-Taybi syndrome																															ENST00000262367.5				Dom/Rec	yes		16	16p13.3	1387	"T, N, F, Mis, O"	CREB binding protein (CBP)	yes	Rubinstein-Taybi syndrome	L	"MLL, MORF, RUNXBP2"		"ALL, AML, DLBCL, B-NHL "		0				NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295						c.(3235-3237)cAg>cGg		CREB binding protein							185	170	175					16																	3817735		2197	4300	6497	SO:0001583	missense	1387				cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding	g.chr16:3817735T>C	U85962	CCDS10509.1, CCDS45399.1	16p13.3	2011-07-01	2008-08-01		ENSG00000005339	ENSG00000005339		"Chromatin-modifying enzymes / K-acetyltransferases"	2348	protein-coding gene	gene with protein product		600140	"Rubinstein-Taybi syndrome"	RSTS		8413673	Standard	NM_001079846		Approved	RTS, CBP, KAT3A	uc002cvv.3	Q92793	OTTHUMG00000129431	ENST00000262367.5:c.3236A>G	16.37:g.3817735T>C	ENSP00000262367:p.Gln1079Arg					CREBBP_ENST00000382070.3_Missense_Mutation_p.Q1041R	p.Q1079R	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)	16	4045	-		Ovarian(90;0.0266)	1079					D3DUC9|O00147|Q16376|Q4LE28	Missense_Mutation	SNP	ENST00000262367.5	37	c.3236A>G	CCDS10509.1	.	.	.	.	.	.	.	.	.	.	T	10.53	1.375527	0.24857	.	.	ENSG00000005339	ENST00000262367;ENST00000543883;ENST00000382070	T;T	0.16597	2.33;2.33	5.61	5.61	0.85477	Bromodomain (1);	0.000000	0.64402	D	0.000001	T	0.37404	0.1002	M	0.62723	1.935	0.80722	D	1	D;D	0.54601	0.967;0.967	D;D	0.65140	0.932;0.932	T	0.02774	-1.1112	10	0.31617	T	0.26	-12.9594	16.1054	0.81216	0.0:0.0:0.0:1.0	.	1109;1079	Q4LE28;Q92793	.;CBP_HUMAN	R	1079;1109;1041	ENSP00000262367:Q1079R;ENSP00000371502:Q1041R	ENSP00000262367:Q1079R	Q	-	2	0	CREBBP	3757736	1.000000	0.71417	0.997000	0.53966	0.031000	0.12232	7.158000	0.77470	2.266000	0.75297	0.533000	0.62120	CAG		0.418	CREBBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251591.2	NM_004380		5	110	0	0	0	1	0	5	110					C	3817735	T	C	3817735	3	2	278	1	0	0	0	0	1	0	0	0	3861	1580	55	4	4156	4	CREBBP	16	3817735	Missense_Mutation	SNP	T	TCGA-J4-A83K-01A-11D-A34U-08		3817735	86537018	29	12875											
STAT3	6774	broad.mit.edu	37	chr17	40485979	40485979	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ccggtgctgtacaatggggtCccctttgtaggaaacttttt	7	14	11	9	1	0	0	0	0	0	0	1	1	1	1	3	4	3	3	3	4	4	5			TCGA-J4-A83K-01A-11D-A34U-08	TCGA-J4-A83K-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4d93fb9-005b-4fc2-9c1d-409da6817ba8	03fd3a9c-8dae-4e30-9439-2c509bcaae9c	g.chr17:40485979C>A	ENST00000264657.5	-	9	1198	c.886G>T	c.(886-888)Gac>Tac	p.D296Y	STAT3_ENST00000389272.3_Missense_Mutation_p.D198Y|STAT3_ENST00000404395.3_Missense_Mutation_p.D296Y|STAT3_ENST00000588969.1_Missense_Mutation_p.D296Y|STAT3_ENST00000585517.1_Missense_Mutation_p.D296Y	NM_003150.3|NM_139276.2	NP_003141.2|NP_644805.1	P40763	STAT3_HUMAN	signal transducer and activator of transcription 3 (acute-phase response factor)	296					acute-phase response (GO:0006953)|astrocyte differentiation (GO:0048708)|cell proliferation (GO:0008283)|cellular component movement (GO:0006928)|cellular response to hormone stimulus (GO:0032870)|cytokine-mediated signaling pathway (GO:0019221)|eating behavior (GO:0042755)|eye photoreceptor cell differentiation (GO:0001754)|glucose homeostasis (GO:0042593)|growth hormone receptor signaling pathway (GO:0060396)|interleukin-6-mediated signaling pathway (GO:0070102)|intracellular receptor signaling pathway (GO:0030522)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|negative regulation of cell death (GO:0060548)|negative regulation of cell proliferation (GO:0008285)|negative regulation of glycolytic process (GO:0045820)|negative regulation of neuron migration (GO:2001223)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphorylation (GO:0016310)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein import into nucleus (GO:0006606)|radial glial cell differentiation (GO:0060019)|regulation of multicellular organism growth (GO:0040014)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|sexual reproduction (GO:0019953)|signal transduction (GO:0007165)|stem cell maintenance (GO:0019827)|temperature homeostasis (GO:0001659)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein dimerization activity (GO:0046983)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|RNA polymerase II repressing transcription factor binding (GO:0001103)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		all_cancers(22;1.39e-06)|all_epithelial(22;2.95e-05)|Breast(137;0.000135)		BRCA - Breast invasive adenocarcinoma(366;0.139)		ACAATGGGGTCCCCTTTGTAG	0.438									Hyperimmunoglobulin E Recurrent Infection Syndrome																													ENST00000264657.5																			0				breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						c.(886-888)Gac>Tac		signal transducer and activator of transcription 3 (acute-phase response factor)							69	69	69					17																	40485979		2203	4300	6503	SO:0001583	missense	6774	Hyperimmunoglobulin E Recurrent Infection Syndrome	Familial Cancer Database	HIES, Hyper IgE syndrome, autosomal dominant (Job syndrome) / recessive	cellular component movement|eating behavior|eye photoreceptor cell differentiation|glucose homeostasis|interleukin-6-mediated signaling pathway|interspecies interaction between organisms|JAK-STAT cascade involved in growth hormone signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|protein import into nucleus|response to estradiol stimulus|sexual reproduction|temperature homeostasis	cytosol|nucleus|plasma membrane	calcium ion binding|ligand-regulated transcription factor activity|protein dimerization activity|protein kinase binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription factor binding|transcription regulatory region DNA binding	g.chr17:40485979C>A	BC014482	CCDS32656.1, CCDS32657.1, CCDS59288.1	17q21	2014-09-17			ENSG00000168610	ENSG00000168610		"SH2 domain containing"	11364	protein-coding gene	gene with protein product		102582				7512451	Standard	NM_139276		Approved	APRF	uc002hzl.1	P40763	OTTHUMG00000150645	ENST00000264657.5:c.886G>T	17.37:g.40485979C>A	ENSP00000264657:p.Asp296Tyr					STAT3_ENST00000404395.3_Missense_Mutation_p.D296Y|STAT3_ENST00000389272.3_Missense_Mutation_p.D198Y|STAT3_ENST00000585517.1_Missense_Mutation_p.D296Y|STAT3_ENST00000588969.1_Missense_Mutation_p.D296Y	p.D296Y	NM_003150.3|NM_139276.2	NP_003141.2|NP_644805.1	P40763	STAT3_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.139)	9	1198	-		all_cancers(22;1.39e-06)|all_epithelial(22;2.95e-05)|Breast(137;0.000135)	296					A8K7B8|K7ENL3|O14916|Q9BW54	Missense_Mutation	SNP	ENST00000264657.5	37	c.886G>T	CCDS32656.1	.	.	.	.	.	.	.	.	.	.	C	29.1	4.978082	0.92982	.	.	ENSG00000168610	ENST00000264657;ENST00000389272;ENST00000404395	T;T;T	0.67523	-0.27;-0.27;-0.27	5.61	5.61	0.85477	STAT transcription factor, all-alpha (2);STAT transcription factor, coiled coil (1);	0.000000	0.85682	D	0.000000	D	0.82742	0.5103	M	0.74467	2.265	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.84100	0.0395	10	0.87932	D	0	-26.9262	19.6394	0.95751	0.0:1.0:0.0:0.0	.	296;296	P40763-2;P40763	.;STAT3_HUMAN	Y	296;198;296	ENSP00000264657:D296Y;ENSP00000373923:D198Y;ENSP00000384943:D296Y	ENSP00000264657:D296Y	D	-	1	0	STAT3	37739505	1.000000	0.71417	0.997000	0.53966	0.973000	0.67179	7.783000	0.85696	2.637000	0.89404	0.655000	0.94253	GAC		0.438	STAT3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319353.3	NM_139276, NM_003150		22	55	1	0	1.55795e-14	1	1.67125e-14	22	55					A	40485979	C	A	40485979	3	1	278	1	0	0	0	0	1	0	0	0	15265	855	30	5	1490	5	STAT3	17	40485979	Missense_Mutation	SNP	C	TCGA-J4-A83K-01A-11D-A34U-08		40485979	40709231	30	12876											
COIL	8161	broad.mit.edu	37	chr17	55028138	55028138	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttttttgctgacagtctgAtctgtgacagcttttggttc	5	20	9	7	0	2	3	0	3	2	0	3	3	2	3	0	1	2	3	0	1	0	7			TCGA-J4-A83K-01A-11D-A34U-08	TCGA-J4-A83K-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4d93fb9-005b-4fc2-9c1d-409da6817ba8	03fd3a9c-8dae-4e30-9439-2c509bcaae9c	g.chr17:55028138A>C	ENST00000240316.4	-	2	499	c.465T>G	c.(463-465)gaT>gaG	p.D155E		NM_004645.2	NP_004636.1	P38432	COIL_HUMAN	coilin	155						Cajal body (GO:0015030)|cytoplasm (GO:0005737)|female germ cell nucleus (GO:0001674)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	disulfide oxidoreductase activity (GO:0015036)|identical protein binding (GO:0042802)|protein C-terminus binding (GO:0008022)			NS(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|urinary_tract(1)	15	Breast(9;6.15e-08)					TGACAGTCTGATCTGTGACAG	0.388																																						ENST00000240316.4																			0				NS(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|urinary_tract(1)	15						c.(463-465)gaT>gaG		coilin							154	146	148					17																	55028138		2203	4300	6503	SO:0001583	missense	8161					Cajal body|nucleolus	protein C-terminus binding	g.chr17:55028138A>C	U06632	CCDS11592.1	17q22	2012-10-02			ENSG00000121058	ENSG00000121058			2184	protein-coding gene	gene with protein product		600272				7971277	Standard	NM_004645		Approved	CLN80, p80-coilin	uc002iuu.3	P38432	OTTHUMG00000178126	ENST00000240316.4:c.465T>G	17.37:g.55028138A>C	ENSP00000240316:p.Asp155Glu						p.D155E	NM_004645.2	NP_004636.1	P38432	COIL_HUMAN			2	499	-	Breast(9;6.15e-08)		155					B2R931	Missense_Mutation	SNP	ENST00000240316.4	37	c.465T>G	CCDS11592.1	.	.	.	.	.	.	.	.	.	.	A	13.44	2.238436	0.39598	.	.	ENSG00000121058	ENST00000240316	T	0.39406	1.08	5.66	-5.36	0.02689	.	1.028920	0.07634	N	0.929089	T	0.22898	0.0553	L	0.29908	0.895	0.09310	N	1	B	0.09022	0.002	B	0.11329	0.006	T	0.20907	-1.0261	10	0.28530	T	0.3	-1.6388	2.5299	0.04700	0.2851:0.4181:0.1398:0.1569	.	155	P38432	COIL_HUMAN	E	155	ENSP00000240316:D155E	ENSP00000240316:D155E	D	-	3	2	COIL	52383137	0.001000	0.12720	0.000000	0.03702	0.686000	0.39977	-0.307000	0.08167	-0.982000	0.03515	0.528000	0.53228	GAT		0.388	COIL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440618.1			4	165	0	0	0	1	0	4	165					C	55028138	A	C	55028138	3	2	278	1	0	0	0	0	1	0	0	0	3665	330	12	5	1289	5	COIL	17	55028138	Missense_Mutation	SNP	A	TCGA-J4-A83K-01A-11D-A34U-08	14542159	55028138	26167072	31	12877											
MUC16	94025	broad.mit.edu	37	chr19	9074563	9074563	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgtctcaatctctgtggtctCggaggagccaaatactgatg	9	12	11	9	1	3	1	1	1	3	0	6	3	3	3	1	3	2	0	1	3	3	1			TCGA-J4-A83K-01A-11D-A34U-08	TCGA-J4-A83K-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4d93fb9-005b-4fc2-9c1d-409da6817ba8	03fd3a9c-8dae-4e30-9439-2c509bcaae9c	g.chr19:9074563C>T	ENST00000397910.4	-	3	13086	c.12883G>A	c.(12883-12885)Gag>Aag	p.E4295K		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	4297	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)		p.E4295K(2)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TCTGTGGTCTCGGAGGAGCCA	0.517																																						ENST00000397910.4																			2	Substitution - Missense(2)	p.E4295K(2)	endometrium(2)	NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(12883-12885)Gag>Aag		mucin 16, cell surface associated							104	102	103					19																	9074563		2035	4183	6218	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9074563C>T	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.12883G>A	19.37:g.9074563C>T	ENSP00000381008:p.Glu4295Lys						p.E4295K	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			3	13086	-			4297			Ser-rich.|Thr-rich.		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.12883G>A	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	c	5.300	0.240794	0.10077	.	.	ENSG00000181143	ENST00000397910	T	0.40225	1.04	1.98	-0.267	0.12938	.	.	.	.	.	T	0.31358	0.0794	L	0.48642	1.525	.	.	.	B	0.06786	0.001	B	0.08055	0.003	T	0.32534	-0.9903	8	0.87932	D	0	.	4.4423	0.11580	0.0:0.6403:0.0:0.3597	.	4295	B5ME49	.	K	4295	ENSP00000381008:E4295K	ENSP00000381008:E4295K	E	-	1	0	MUC16	8935563	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	0.096000	0.15147	-0.004000	0.14419	-0.671000	0.03813	GAG		0.517	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		21	35	0	0	0	1	0	21	35					T	9074563	C	T	9074563	3	4	278	1	0	0	0	0	1	0	0	0	9973	893	31	2	30968	2	MUC16	19	9074563	Missense_Mutation	SNP	C	TCGA-J4-A83K-01A-11D-A34U-08		9074563	50054420	32	12878											
POU2F2	5452	broad.mit.edu	37	chr19	42597984	42597984	+	Missense_Mutation	SNP	T	T	G																															tttctgccctccctgacctgTtgtgctcagactgctggaag																										TCGA-J4-A83K-01A-11D-A34U-08	TCGA-J4-A83K-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4d93fb9-005b-4fc2-9c1d-409da6817ba8	03fd3a9c-8dae-4e30-9439-2c509bcaae9c	g.chr19:42597984T>G	ENST00000526816.2	-	12	1210	c.1195A>C	c.(1195-1197)Aca>Cca	p.T399P	POU2F2_ENST00000533720.1_Missense_Mutation_p.T383P|POU2F2_ENST00000560558.1_Missense_Mutation_p.T344P|POU2F2_ENST00000529952.1_Missense_Mutation_p.T399P|POU2F2_ENST00000342301.4_Missense_Mutation_p.T399P|POU2F2_ENST00000529067.1_Missense_Mutation_p.T383P|POU2F2_ENST00000389341.5_Missense_Mutation_p.T383P|POU2F2_ENST00000560398.1_Missense_Mutation_p.T405P			P09086	PO2F2_HUMAN	POU class 2 homeobox 2	399	Leucine-zipper.				cell maturation (GO:0048469)|humoral immune response (GO:0006959)|immunoglobulin secretion involved in immune response (GO:0002380)|mature B cell differentiation (GO:0002335)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			kidney(1)|large_intestine(5)|lung(4)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Prostate(69;0.059)			Dolutegravir(DB08930)	CCCTGACCTGTTGTGCTCAGA	0.607																																						ENST00000389341.5																			0				kidney(1)|large_intestine(5)|lung(4)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						c.(1147-1149)Aca>Cca		POU class 2 homeobox 2							155	142	146					19																	42597984		2203	4300	6503	SO:0001583	missense	5452				humoral immune response|transcription from RNA polymerase II promoter	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr19:42597984T>G		CCDS33035.1, CCDS56094.1, CCDS56095.1, CCDS58665.1	19q13.2	2011-06-20	2007-07-13					"Homeoboxes / POU class"	9213	protein-coding gene	gene with protein product		164176	"POU domain class 2, transcription factor 2"	OTF2			Standard	NM_001207026		Approved	OCT2	uc002osp.3	P09086		ENST00000526816.2:c.1195A>C	19.37:g.42597984T>G	ENSP00000431603:p.Thr399Pro					POU2F2_ENST00000560558.1_Missense_Mutation_p.T344P|POU2F2_ENST00000560398.1_Missense_Mutation_p.T405P|POU2F2_ENST00000533720.1_Missense_Mutation_p.T383P|POU2F2_ENST00000342301.4_Missense_Mutation_p.T399P|POU2F2_ENST00000526816.2_Missense_Mutation_p.T399P|POU2F2_ENST00000529067.1_Missense_Mutation_p.T383P|POU2F2_ENST00000529952.1_Missense_Mutation_p.T399P	p.T383P	NM_001207025.2|NM_001247994.1|NM_002698.4	NP_001193954.1|NP_001234923.1|NP_002689.1	P09086	PO2F2_HUMAN			12	1213	-		Prostate(69;0.059)	399					Q16648|Q7M4M8|Q9BRS4	Missense_Mutation	SNP	ENST00000526816.2	37	c.1147A>C	CCDS56095.1	.	.	.	.	.	.	.	.	.	.	T	20.8	4.058355	0.76074	.	.	ENSG00000028277	ENST00000389341;ENST00000342301;ENST00000292077;ENST00000533720;ENST00000526816;ENST00000529067;ENST00000529952	D;D;D;D;D;D	0.84442	-1.73;-1.85;-1.84;-1.66;-1.51;-1.72	3.98	3.98	0.46160	.	7.719930	0.00166	N	0.000001	D	0.88629	0.6488	N	0.19112	0.55	0.51767	D	0.999938	D;P;D	0.76494	0.997;0.932;0.999	D;P;D	0.78314	0.986;0.84;0.991	T	0.77832	-0.2441	10	0.66056	D	0.02	.	12.2972	0.54854	0.0:0.0:0.0:1.0	.	383;399;383	P09086-4;P09086;P09086-3	.;PO2F2_HUMAN;.	P	383;399;399;383;398;383;399	ENSP00000373992:T383P;ENSP00000339369:T399P;ENSP00000437221:T383P;ENSP00000431603:T398P;ENSP00000437224:T383P;ENSP00000436988:T399P	ENSP00000292077:T399P	T	-	1	0	POU2F2	47289824	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.719000	0.68462	1.815000	0.52974	0.459000	0.35465	ACA		0.607	POU2F2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000387329.3			5	142	0	0	0	1	0	5	142					G	42597984	T	G	42597984	3	3	278	1	0	0	0	0	1	0	0	0	12272	1725	60	5	256	5	POU2F2	19	42597984	Missense_Mutation	SNP	T	TCGA-J4-A83K-01A-11D-A34U-08	33523421	42597984	16530999	33	12879	68	2									
POU2F2	5452	broad.mit.edu	37	chr19	42597985	42597985	+	Silent	SNP	T	T	C																															ttctgccctccctgacctgtTgtgctcagactgctggaagc																										TCGA-J4-A83K-01A-11D-A34U-08	TCGA-J4-A83K-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4d93fb9-005b-4fc2-9c1d-409da6817ba8	03fd3a9c-8dae-4e30-9439-2c509bcaae9c	g.chr19:42597985T>C	ENST00000526816.2	-	12	1209	c.1194A>G	c.(1192-1194)acA>acG	p.T398T	POU2F2_ENST00000533720.1_Silent_p.T382T|POU2F2_ENST00000560558.1_Silent_p.T343T|POU2F2_ENST00000529952.1_Silent_p.T398T|POU2F2_ENST00000342301.4_Silent_p.T398T|POU2F2_ENST00000529067.1_Silent_p.T382T|POU2F2_ENST00000389341.5_Silent_p.T382T|POU2F2_ENST00000560398.1_Silent_p.T404T			P09086	PO2F2_HUMAN	POU class 2 homeobox 2	398	Leucine-zipper.				cell maturation (GO:0048469)|humoral immune response (GO:0006959)|immunoglobulin secretion involved in immune response (GO:0002380)|mature B cell differentiation (GO:0002335)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			kidney(1)|large_intestine(5)|lung(4)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Prostate(69;0.059)			Dolutegravir(DB08930)	CCTGACCTGTTGTGCTCAGAC	0.612																																						ENST00000389341.5																			0				kidney(1)|large_intestine(5)|lung(4)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						c.(1144-1146)acA>acG		POU class 2 homeobox 2							156	142	147					19																	42597985		2203	4300	6503	SO:0001819	synonymous_variant	5452				humoral immune response|transcription from RNA polymerase II promoter	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr19:42597985T>C		CCDS33035.1, CCDS56094.1, CCDS56095.1, CCDS58665.1	19q13.2	2011-06-20	2007-07-13					"Homeoboxes / POU class"	9213	protein-coding gene	gene with protein product		164176	"POU domain class 2, transcription factor 2"	OTF2			Standard	NM_001207026		Approved	OCT2	uc002osp.3	P09086		ENST00000526816.2:c.1194A>G	19.37:g.42597985T>C						POU2F2_ENST00000560558.1_Silent_p.T343T|POU2F2_ENST00000560398.1_Silent_p.T404T|POU2F2_ENST00000533720.1_Silent_p.T382T|POU2F2_ENST00000342301.4_Silent_p.T398T|POU2F2_ENST00000526816.2_Silent_p.T398T|POU2F2_ENST00000529067.1_Silent_p.T382T|POU2F2_ENST00000529952.1_Silent_p.T398T	p.T382T	NM_001207025.2|NM_001247994.1|NM_002698.4	NP_001193954.1|NP_001234923.1|NP_002689.1	P09086	PO2F2_HUMAN			12	1212	-		Prostate(69;0.059)	398					Q16648|Q7M4M8|Q9BRS4	Silent	SNP	ENST00000526816.2	37	c.1146A>G	CCDS56095.1																																																																																				0.612	POU2F2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000387329.3			5	141	0	0	0	1	0	5	141					C	42597985	T	C	42597985	2	2	278	1	0	0	0	0	0	0	0	1	12272	1799	63	4		4	POU2F2	19	42597985	Silent	SNP	T	TCGA-J4-A83K-01A-11D-A34U-08	1	42597985	16530998	34	12880	68	2									
PNMAL2	57469	broad.mit.edu	37	chr19	46997772	46997772	+	Intron	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtttcttggtccccactttcCtgcgagtcgctctccgaagt	4	14	9	14	3	2	0	0	0	2	0	6	2	4	0	4	1	1	2	4	1	1	3			TCGA-J4-A83K-01A-11D-A34U-08	TCGA-J4-A83K-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4d93fb9-005b-4fc2-9c1d-409da6817ba8	03fd3a9c-8dae-4e30-9439-2c509bcaae9c	g.chr19:46997772C>T	ENST00000377655.2	-	1	734				AC011484.1_ENST00000377652.3_5'UTR|PNMAL2_ENST00000594749.1_Intron|PNMAL2_ENST00000599531.1_Silent_p.Q317Q			Q9ULN7	PNML2_HUMAN	paraneoplastic Ma antigen family-like 2											central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(4)	8		Ovarian(192;0.00965)|all_neural(266;0.0459)		OV - Ovarian serous cystadenocarcinoma(262;0.000322)|all cancers(93;0.00233)|GBM - Glioblastoma multiforme(486;0.0421)|Epithelial(262;0.0427)		CCCCACTTTCCTGCGAGTCGC	0.597																																						ENST00000599531.1																			0				central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(4)	8						c.(949-951)caG>caA		paraneoplastic Ma antigen family-like 2							73	81	78					19																	46997772		2192	4291	6483	SO:0001627	intron_variant	57469							g.chr19:46997772C>T	AB033009	CCDS59400.1	19q13.32	2014-02-12	2012-02-09		ENSG00000204851	ENSG00000204851		"Paraneoplastic Ma antigens"	29206	protein-coding gene	gene with protein product			"PNMA-like 2"			10574461	Standard	NM_020709		Approved	KIAA1183	uc002pes.2	Q9ULN7		ENST00000377655.2:c.734+216G>A	19.37:g.46997772C>T						PNMAL2_ENST00000594749.1_Intron|PNMAL2_ENST00000377655.2_Intron|AC011484.1_ENST00000377652.3_5'UTR	p.Q317Q	NM_020709.1	NP_065760.1	Q9ULN7	PNML2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000322)|all cancers(93;0.00233)|GBM - Glioblastoma multiforme(486;0.0421)|Epithelial(262;0.0427)	1	1983	-		Ovarian(192;0.00965)|all_neural(266;0.0459)	317					C9JGD5|M0R374|Q08E79|Q0D2F9|Q6ZVD1	Silent	SNP	ENST00000377655.2	37	c.951G>A																																																																																					0.597	PNMAL2-201	KNOWN	basic	protein_coding	protein_coding		NM_020709		10	86	0	0	0	1	0	10	86					T	46997772	C	T	46997772	1	4	278	0	1	0	0	0	0	0	0	0	12158	680	24	3		3	PNMAL2	19	46997772	Intron	SNP	C	TCGA-J4-A83K-01A-11D-A34U-08	4399787	46997772	12131211	35	12881											
DEFB118	117285	broad.mit.edu	37	chr20	29960700	29960700	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctggaacagatcagggcaCtgcaggaaacaatgcaaaga	16	5	12	8	0	1	2	1	0	0	2	1	4	1	4	0	3	5	4	0	3	4	0			TCGA-J4-A83K-01A-11D-A34U-08	TCGA-J4-A83K-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4d93fb9-005b-4fc2-9c1d-409da6817ba8	03fd3a9c-8dae-4e30-9439-2c509bcaae9c	g.chr20:29960700C>G	ENST00000253381.2	+	2	132	c.99C>G	c.(97-99)caC>caG	p.H33Q		NM_054112.2	NP_473453.1	Q96PH6	DB118_HUMAN	defensin, beta 118	33					cell-matrix adhesion (GO:0007160)|defense response to bacterium (GO:0042742)|innate immune response (GO:0045087)|spermatogenesis (GO:0007283)	extracellular region (GO:0005576)				breast(1)|endometrium(1)|lung(7)|ovary(3)|pancreas(1)|prostate(1)	14	all_hematologic(12;0.158)		Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)			GATCAGGGCACTGCAGGAAAC	0.418																																						ENST00000253381.2																			0				breast(1)|endometrium(1)|lung(7)|ovary(3)|pancreas(1)|prostate(1)	14						c.(97-99)caC>caG		defensin, beta 118							104	95	98					20																	29960700		2203	4300	6503	SO:0001583	missense	117285				cell-matrix adhesion|defense response to bacterium|innate immune response|spermatogenesis	extracellular region		g.chr20:29960700C>G	AF347073	CCDS13177.1	20q11.21	2008-02-01	2002-05-09	2002-05-10	ENSG00000131068	ENSG00000131068		"Defensins, beta"	16196	protein-coding gene	gene with protein product		607650	"chromosome 20 open reading frame 63"	C20orf63		11564719, 15033915	Standard	NM_054112		Approved	dJ1018D12.3, DEFB-18, ESC42	uc002wvr.3	Q96PH6	OTTHUMG00000032161	ENST00000253381.2:c.99C>G	20.37:g.29960700C>G	ENSP00000253381:p.His33Gln						p.H33Q	NM_054112.2	NP_473453.1	Q96PH6	DB118_HUMAN	Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)		2	132	+	all_hematologic(12;0.158)		33					Q17RC4|Q8N691|Q9NUH0	Missense_Mutation	SNP	ENST00000253381.2	37	c.99C>G	CCDS13177.1	.	.	.	.	.	.	.	.	.	.	C	13.08	2.129565	0.37630	.	.	ENSG00000131068	ENST00000253381	T	0.12672	2.66	3.82	0.672	0.17935	.	1.667740	0.03442	N	0.209430	T	0.13415	0.0325	L	0.47190	1.495	0.21553	N	0.999644	B	0.34349	0.45	B	0.34180	0.177	T	0.28004	-1.0057	10	0.72032	D	0.01	-8.9027	2.3709	0.04331	0.1974:0.502:0.1916:0.109	.	33	Q96PH6	DB118_HUMAN	Q	33	ENSP00000253381:H33Q	ENSP00000253381:H33Q	H	+	3	2	DEFB118	29424361	0.165000	0.22948	0.208000	0.23602	0.047000	0.14425	0.138000	0.16016	0.171000	0.19730	-0.136000	0.14681	CAC		0.418	DEFB118-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078501.2	NM_054112		4	43	0	0	0	1	0	4	43					G	29960700	C	G	29960700	3	3	278	1	0	0	0	0	1	0	0	0	4406	564	20	5	105	5	DEFB118	20	29960700	Missense_Mutation	SNP	C	TCGA-J4-A83K-01A-11D-A34U-08		29960700	33064820	36	12882											
GAB4	128954	broad.mit.edu	37	chr22	17443635	17443635	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcccgagtcacagcttggcGcccctgggaggctctgagga	6	6	16	13	2	2	1	1	1	1	0	2	4	2	3	3	5	1	2	3	5	0	1	rs372257366		TCGA-J4-A83K-01A-11D-A34U-08	TCGA-J4-A83K-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4d93fb9-005b-4fc2-9c1d-409da6817ba8	03fd3a9c-8dae-4e30-9439-2c509bcaae9c	g.chr22:17443635G>A	ENST00000400588.1	-	10	1820	c.1713C>T	c.(1711-1713)ggC>ggT	p.G571G		NM_001037814.1	NP_001032903.1	Q2WGN9	GAB4_HUMAN	GRB2-associated binding protein family, member 4	571								p.G571G(1)		breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(24)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44		all_epithelial(15;0.112)|Lung NSC(13;0.248)				ACAGCTTGGCGCCCCTGGGAG	0.597																																						ENST00000400588.1																			1	Substitution - coding silent(1)	p.G571G(1)	lung(1)	breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(24)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44						c.(1711-1713)ggC>ggT		GRB2-associated binding protein family, member 4		G		0,4378		0,0,2189	44	50	48		1713	-4.9	0.2	22		48	1,8593		0,1,4296	no	coding-synonymous	GAB4	NM_001037814.1		0,1,6485	AA,AG,GG		0.0116,0.0,0.0077		571/575	17443635	1,12971	2189	4297	6486	SO:0001819	synonymous_variant	128954							g.chr22:17443635G>A	AK057252	CCDS42976.1	22q11.2	2013-01-10			ENSG00000215568	ENSG00000215568		"Pleckstrin homology (PH) domain containing"	18325	protein-coding gene	gene with protein product							Standard	NM_001037814		Approved		uc002zlw.3	Q2WGN9	OTTHUMG00000149992	ENST00000400588.1:c.1713C>T	22.37:g.17443635G>A							p.G571G	NM_001037814.1	NP_001032903.1	Q2WGN9	GAB4_HUMAN			10	1820	-		all_epithelial(15;0.112)|Lung NSC(13;0.248)	571						Silent	SNP	ENST00000400588.1	37	c.1713C>T	CCDS42976.1																																																																																				0.597	GAB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315426.1	XM_372882		8	43	0	0	0	1	0	8	43					A	17443635	G	A	17443635	2	1	278	1	0	0	0	0	0	0	0	1	6151	1074	38	1		1	GAB4	22	17443635	Silent	SNP	G	TCGA-J4-A83K-01A-11D-A34U-08		17443635	33860931	37	12883											
GLUD2	2747	broad.mit.edu	37	chrX	120182502	120182502	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	actctatgagatatttacatCgttttggtgctaaatgtatt	11	18	7	5	1	1	1	0	1	1	1	2	2	1	1	0	1	2	3	0	1	6	9			TCGA-J4-A83K-01A-11D-A34U-08	TCGA-J4-A83K-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4d93fb9-005b-4fc2-9c1d-409da6817ba8	03fd3a9c-8dae-4e30-9439-2c509bcaae9c	g.chrX:120182502C>T	ENST00000328078.1	+	1	1041	c.964C>T	c.(964-966)Cgt>Tgt	p.R322C		NM_012084.3	NP_036216.2	P49448	DHE4_HUMAN	glutamate dehydrogenase 2	322					glutamate biosynthetic process (GO:0006537)|glutamate catabolic process (GO:0006538)|glutamate metabolic process (GO:0006536)|oxidation-reduction process (GO:0055114)	mitochondrion (GO:0005739)	ADP binding (GO:0043531)|glutamate dehydrogenase (NAD+) activity (GO:0004352)|glutamate dehydrogenase [NAD(P)+] activity (GO:0004353)|GTP binding (GO:0005525)|leucine binding (GO:0070728)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|urinary_tract(1)	38						ATATTTACATCGTTTTGGTGC	0.388																																						ENST00000328078.1																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|urinary_tract(1)	38						c.(964-966)Cgt>Tgt		glutamate dehydrogenase 2	L-Glutamic Acid(DB00142)|NADH(DB00157)						232	214	220					X																	120182502		2203	4298	6501	SO:0001583	missense	2747				glutamate biosynthetic process|glutamate catabolic process	mitochondrial matrix	ADP binding|glutamate dehydrogenase|glutamate dehydrogenase activity|GTP binding|leucine binding	g.chrX:120182502C>T	U08997	CCDS14603.1	Xq24-q25	2008-02-05	2003-02-24	2003-02-28	ENSG00000182890	ENSG00000182890			4336	protein-coding gene	gene with protein product		300144	"glutamate dehydrogenase pseudogene 1"	GLUDP1		8207021, 9109504	Standard	NM_012084		Approved		uc004eto.3	P49448	OTTHUMG00000022320	ENST00000328078.1:c.964C>T	X.37:g.120182502C>T	ENSP00000327589:p.Arg322Cys						p.R322C	NM_012084.3	NP_036216.2	P49448	DHE4_HUMAN			1	1041	+			322					B2R8G0|Q9UDQ4	Missense_Mutation	SNP	ENST00000328078.1	37	c.964C>T	CCDS14603.1	.	.	.	.	.	.	.	.	.	.	C	11.26	1.585948	0.28268	.	.	ENSG00000182890	ENST00000328078	D	0.96619	-4.07	1.61	-3.22	0.05125	Glutamate/phenylalanine/leucine/valine dehydrogenase, C-terminal (2);NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.97542	0.9195	H	0.95574	3.69	0.80722	D	1	D	0.89917	1.0	D	0.68765	0.96	D	0.91385	0.5130	10	0.87932	D	0	-23.188	1.1669	0.01817	0.1558:0.3718:0.1544:0.3181	.	322	P49448	DHE4_HUMAN	C	322	ENSP00000327589:R322C	ENSP00000327589:R322C	R	+	1	0	GLUD2	120010183	1.000000	0.71417	0.007000	0.13788	0.878000	0.50629	1.209000	0.32357	-2.136000	0.00810	0.472000	0.43445	CGT		0.388	GLUD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058133.1	NM_012084		21	145	0	0	0	1	0	21	145					T	120182502	C	T	120182502	3	4	278	1	0	0	0	0	1	0	0	0	6477	884	31	2	966	2	GLUD2	23	120182502	Missense_Mutation	SNP	C	TCGA-J4-A83K-01A-11D-A34U-08		120182502	35088058	38	12884											
NFIA	4774	broad.mit.edu	37	chr1	61818241	61818241	+	Splice_Site	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccagcacatcctctacgaggTaattttattggcagctcttg	9	13	8	11	1	2	0	0	0	2	0	3	1	3	0	2	2	3	4	2	2	3	6			TCGA-J4-A83L-01A-11D-A34U-08	TCGA-J4-A83L-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe51bd58-bb0e-41cd-aeee-4bf7aa9579a2	fab25240-6b31-4570-b1dc-8e37d42997d0	g.chr1:61818241T>G	ENST00000403491.3	+	5	1302		c.e5+2		NFIA_ENST00000371185.2_Splice_Site|NFIA_ENST00000485903.2_Splice_Site|NFIA_ENST00000371187.3_Splice_Site|NFIA_ENST00000371184.2_Intron|NFIA_ENST00000407417.3_Splice_Site|NFIA_ENST00000371189.4_Splice_Site|NFIA_ENST00000479364.1_Splice_Site|NFIA_ENST00000371191.1_Splice_Site	NM_001134673.3|NM_005595.4	NP_001128145.1|NP_005586.1	Q12857	NFIA_HUMAN	nuclear factor I/A						DNA replication (GO:0006260)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to organic cyclic compound (GO:0014070)|viral genome replication (GO:0019079)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)		NFIA/EHF(2)	endometrium(1)|kidney(2)|large_intestine(8)|lung(20)|pancreas(1)|prostate(1)|skin(1)	34						CTCTACGAGGTAATTTTATTG	0.418																																						ENST00000403491.3																		NFIA/EHF(2)	0				endometrium(1)|kidney(2)|large_intestine(8)|lung(20)|pancreas(1)|prostate(1)|skin(1)	34						c.e5+2		nuclear factor I/A							81	79	80					1																	61818241		2203	4300	6503	SO:0001630	splice_region_variant	4774				DNA replication|viral genome replication	cell junction|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding	g.chr1:61818241T>G	U07809	CCDS615.1, CCDS44156.1, CCDS53322.1, CCDS53321.1	1p31.3-p31.2	2008-02-05			ENSG00000162599	ENSG00000162599			7784	protein-coding gene	gene with protein product		600727				7590749	Standard	NM_001134673		Approved	NFI-L, KIAA1439	uc010oos.2	Q12857	OTTHUMG00000008618	ENST00000403491.3:c.818+2T>G	1.37:g.61818241T>G						NFIA_ENST00000371189.4_Splice_Site|NFIA_ENST00000371191.1_Splice_Site|NFIA_ENST00000485903.2_Splice_Site|NFIA_ENST00000479364.1_Splice_Site|NFIA_ENST00000407417.3_Splice_Site|NFIA_ENST00000371185.2_Splice_Site|NFIA_ENST00000371184.2_Intron|NFIA_ENST00000371187.3_Splice_Site		NM_001134673.3|NM_005595.4	NP_001128145.1|NP_005586.1	Q12857	NFIA_HUMAN			5	1302	+								B4DRJ3|B4DS53|F5H0R0|F8W8W3|Q8TA97|Q9H3X9|Q9P2A9	Splice_Site	SNP	ENST00000403491.3	37		CCDS44156.1	.	.	.	.	.	.	.	.	.	.	T	21.6	4.168710	0.78339	.	.	ENSG00000162599	ENST00000371191;ENST00000407417;ENST00000371189;ENST00000403491;ENST00000485903;ENST00000371185;ENST00000371187	.	.	.	5.85	5.85	0.93711	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.2291	0.82321	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	NFIA	61590829	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	7.414000	0.80117	2.238000	0.73509	0.528000	0.53228	.		0.418	NFIA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023799.3	NM_005595	Intron	3	70	0	0	0	1	0	3	70					G	61818241	T	G	61818241	5	3	279	1	0	0	0	0	0	0	1	0	10370	1652	57	5	984	5	NFIA	1	61818241	Splice_Site	SNP	T	TCGA-J4-A83L-01A-11D-A34U-08		61818241	187432380	1	12885											
MCOLN3	55283	broad.mit.edu	37	chr1	85486891	85486891	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttttgctgcatttttgcaaaCgtggcaaacatatcatctcc	10	15	6	10	1	2	0	1	0	1	0	3	0	2	0	1	1	5	4	1	1	3	5	rs190549172	byFrequency	TCGA-J4-A83L-01A-11D-A34U-08	TCGA-J4-A83L-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe51bd58-bb0e-41cd-aeee-4bf7aa9579a2	fab25240-6b31-4570-b1dc-8e37d42997d0	g.chr1:85486891C>T	ENST00000370589.2	-	12	1441	c.1389G>A	c.(1387-1389)acG>acA	p.T463T	MCOLN3_ENST00000474447.1_5'UTR|MCOLN3_ENST00000341115.4_Silent_p.T407T|WDR63_ENST00000370596.1_Intron	NM_018298.10	NP_060768.8	Q8TDD5	MCLN3_HUMAN	mucolipin 3	463					auditory receptor cell differentiation (GO:0042491)|calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|locomotory behavior (GO:0007626)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(6)|kidney(3)|large_intestine(9)|lung(12)|prostate(3)|skin(1)	34				all cancers(265;0.00957)|Epithelial(280;0.0254)		TTTTTGCAAACGTGGCAAACA	0.338													C|||	5	0.000998403	0	0	5008	,	,		19663	0.002		0	False		,,,				2504	0.0031					ENST00000370589.2																			0				endometrium(6)|kidney(3)|large_intestine(9)|lung(12)|prostate(3)|skin(1)	34						c.(1387-1389)acG>acA		mucolipin 3		C		0,4406		0,0,2203	87	90	89		1389	0.4	1	1		89	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	MCOLN3	NM_018298.9		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		463/554	85486891	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	55283					integral to membrane	ion channel activity	g.chr1:85486891C>T	AF475085	CCDS701.1, CCDS58009.1	1p22.3	2011-12-16			ENSG00000055732	ENSG00000055732		"Voltage-gated ion channels / Transient receptor potential cation channels"	13358	protein-coding gene	gene with protein product		607400				16382100	Standard	NM_018298		Approved	TRPML3, FLJ11006, TRP-ML3	uc001dkp.3	Q8TDD5	OTTHUMG00000009955	ENST00000370589.2:c.1389G>A	1.37:g.85486891C>T						MCOLN3_ENST00000341115.4_Silent_p.T407T|MCOLN3_ENST00000474447.1_5'UTR|WDR63_ENST00000370596.1_Intron	p.T463T	NM_018298.10	NP_060768.8	Q8TDD5	MCLN3_HUMAN		all cancers(265;0.00957)|Epithelial(280;0.0254)	12	1441	-			463					Q5T4H5|Q5T4H6|Q9NV09	Silent	SNP	ENST00000370589.2	37	c.1389G>A	CCDS701.1																																																																																				0.338	MCOLN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027569.2	NM_018298		5	62	0	0	0	1	0	5	62					T	85486891	C	T	85486891	2	4	279	1	0	0	0	0	0	0	0	1	9397	523	19	1		1	MCOLN3	1	85486891	Silent	SNP	C	TCGA-J4-A83L-01A-11D-A34U-08	23668650	85486891	163763730	2	12886											
PAQR6	79957	broad.mit.edu	37	chr1	156213664	156213664	+	3'UTR	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggcatcttcagcctggacaCgcatgcatctcccctctcag	7	9	9	16	1	4	0	2	0	3	0	6	1	4	1	3	2	2	3	3	2	0	1	rs535452914		TCGA-J4-A83L-01A-11D-A34U-08	TCGA-J4-A83L-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe51bd58-bb0e-41cd-aeee-4bf7aa9579a2	fab25240-6b31-4570-b1dc-8e37d42997d0	g.chr1:156213664C>T	ENST00000292291.5	-	0	1449				PAQR6_ENST00000356983.2_Silent_p.A348A|PAQR6_ENST00000335852.1_Silent_p.A348A|PAQR6_ENST00000492619.1_5'UTR|PAQR6_ENST00000368270.1_3'UTR	NM_001272104.1|NM_001272105.1|NM_198406.2	NP_001259033.1|NP_001259034.1|NP_940798.1	Q6TCH4	PAQR6_HUMAN	progestin and adipoQ receptor family member VI							integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			lung(4)|ovary(1)	5	Hepatocellular(266;0.158)					AGCCTGGACACGCATGCATCT	0.582													C|||	1	0.000199681	0	0	5008	,	,		17951	0		0	False		,,,				2504	0.001				GBM(16;219 398 12385 32425 38531)	ENST00000335852.1																			0				lung(4)|ovary(1)	5						c.(1042-1044)gcG>gcA		progestin and adipoQ receptor family member VI							245	263	257					1																	156213664		2203	4300	6503	SO:0001624	3_prime_UTR_variant	79957					integral to membrane	receptor activity	g.chr1:156213664C>T	AF455045	CCDS1135.1, CCDS1136.1, CCDS60301.1, CCDS72945.1, CCDS72946.1	1q23	2008-02-05			ENSG00000160781	ENSG00000160781			30132	protein-coding gene	gene with protein product		614579				12477932	Standard	NM_024897		Approved	FLJ22672	uc010phh.2	Q6TCH4	OTTHUMG00000017490	ENST00000292291.5:c.*256G>A	1.37:g.156213664C>T						PAQR6_ENST00000368270.1_3'UTR|PAQR6_ENST00000492619.1_5'UTR|PAQR6_ENST00000356983.2_Silent_p.A348A|PAQR6_ENST00000360733.2_Silent_p.A348A|PAQR6_ENST00000292291.5_3'UTR	p.A348A	NM_024897.2	NP_079173.2	Q6TCH4	PAQR6_HUMAN			7	1659	-	Hepatocellular(266;0.158)		0					B7Z9R9|D3DVB4|D3DVB6|Q5TCK9|Q6PDU0|Q7Z4Q7|Q7Z4Q9|Q8N121|Q8N3M2|Q9H621	Silent	SNP	ENST00000292291.5	37	c.1044G>A	CCDS1136.1																																																																																				0.582	PAQR6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000046297.2	NM_024897		12	202	0	0	0	1	0	12	202					T	156213664	C	T	156213664	1	4	279	0	1	0	0	0	0	0	0	0	11439	523	19	1		1	PAQR6	1	156213664	3'UTR	SNP	C	TCGA-J4-A83L-01A-11D-A34U-08	70726773	156213664	93036957	3	12887											
CNTNAP5	129684	broad.mit.edu	37	chr2	125262060	125262060	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gagggctcgggaaccctgctGctgagcctggagggtggaat	7	7	18	9	1	0	1	0	1	0	0	1	5	0	4	2	5	4	3	2	5	2	0			TCGA-J4-A83L-01A-11D-A34U-08	TCGA-J4-A83L-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe51bd58-bb0e-41cd-aeee-4bf7aa9579a2	fab25240-6b31-4570-b1dc-8e37d42997d0	g.chr2:125262060G>T	ENST00000431078.1	+	8	1615	c.1251G>T	c.(1249-1251)ctG>ctT	p.L417L		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	417	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		GAACCCTGCTGCTGAGCCTGG	0.522																																						ENST00000431078.1																			0				NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176						c.(1249-1251)ctG>ctT		contactin associated protein-like 5							71	74	73					2																	125262060		1960	4151	6111	SO:0001819	synonymous_variant	129684				cell adhesion|signal transduction	integral to membrane	receptor binding	g.chr2:125262060G>T	AB077881	CCDS46401.1	2q14.1	2008-02-05			ENSG00000155052	ENSG00000155052			18748	protein-coding gene	gene with protein product		610519					Standard	NM_130773		Approved	caspr5, FLJ31966	uc002tno.3	Q8WYK1	OTTHUMG00000153356	ENST00000431078.1:c.1251G>T	2.37:g.125262060G>T							p.L417L	NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.248)	8	1615	+			417			Laminin G-like 2.		Q4ZFW2|Q4ZG21|Q53R09|Q53RX1|Q53SG3|Q584P3|Q96MS7	Silent	SNP	ENST00000431078.1	37	c.1251G>T	CCDS46401.1																																																																																				0.522	CNTNAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330864.3			9	57	1	0	0.00448238	1	0.00461045	9	57					T	125262060	G	T	125262060	2	4	279	1	0	0	0	0	0	0	0	1	3650	1306	46	5		5	CNTNAP5	2	125262060	Silent	SNP	G	TCGA-J4-A83L-01A-11D-A34U-08		125262060	117937313	4	12888											
SCN1A	6323	broad.mit.edu	37	chr2	166900411	166900411	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcacaaacaaggaatctctaCggctctcgttatcctcaaag	13	9	7	12	2	3	0	1	0	2	0	6	1	4	1	1	2	2	3	1	2	6	2	rs121918769	byFrequency	TCGA-J4-A83L-01A-11D-A34U-08	TCGA-J4-A83L-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe51bd58-bb0e-41cd-aeee-4bf7aa9579a2	fab25240-6b31-4570-b1dc-8e37d42997d0	g.chr2:166900411C>T	ENST00000303395.4	-	11	1810	c.1811G>A	c.(1810-1812)cGt>cAt	p.R604H	SCN1A_ENST00000409050.1_Missense_Mutation_p.R604H|SCN1A_ENST00000423058.2_Missense_Mutation_p.R604H|AC010127.3_ENST00000599041.1_RNA|AC010127.3_ENST00000595268.1_RNA|AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000375405.3_Missense_Mutation_p.R604H			P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	604			R -> H (in EIEE6; dbSNP:rs121918769). {ECO:0000269|PubMed:19589774}.		adult walking behavior (GO:0007628)|membrane depolarization during action potential (GO:0086010)|neuromuscular process controlling posture (GO:0050884)|neuronal action potential (GO:0019228)|neuronal action potential propagation (GO:0019227)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon initial segment (GO:0043194)|intercalated disc (GO:0014704)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)|Z disc (GO:0030018)	voltage-gated sodium channel activity (GO:0005248)			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Dronedarone(DB04855)|Nitrazepam(DB01595)|Permethrin(DB04930)|Phenacemide(DB01121)|Phenazopyridine(DB01438)|Phenytoin(DB00252)|Topiramate(DB00273)|Valproic Acid(DB00313)|Zonisamide(DB00909)	GGAATCTCTACGGCTCTCGTT	0.532													C|||	7	0.00139776	0	0.0014	5008	,	,		20386	0		0	False		,,,				2504	0.0061					ENST00000423058.2																			0				NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200						c.(1810-1812)cGt>cAt		sodium channel, voltage-gated, type I, alpha subunit	Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	C	HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG	0,4406		0,0,2203	174	150	158	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	1811,1811,1811,1811	5.4	1	2	dbSNP_133	158	14,8586	10.5+/-38.8	0,14,4286	yes	missense,missense,missense,missense	SCN1A	NM_001165963.1,NM_001165964.1,NM_001202435.1,NM_006920.4	29,29,29,29	0,14,6489	TT,TC,CC		0.1628,0.0,0.1076	probably-damaging,probably-damaging,probably-damaging,probably-damaging	604/2010,604/1982,604/2010,604/1999	166900411	14,12992	2203	4300	6503	SO:0001583	missense	6323					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:166900411C>T	AB093548	CCDS33316.1, CCDS54413.1, CCDS54414.1	2q24.3	2014-09-17	2007-01-23		ENSG00000144285	ENSG00000144285		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10585	protein-coding gene	gene with protein product		182389	"febrile convulsions 3"	SCN1, FEB3		8062593, 16382098, 11823106	Standard	NM_006920		Approved	Nav1.1, GEFSP2, HBSCI, NAC1, SMEI	uc021vsb.1	P35498	OTTHUMG00000044173	ENST00000303395.4:c.1811G>A	2.37:g.166900411C>T	ENSP00000303540:p.Arg604His					SCN1A_ENST00000375405.3_Missense_Mutation_p.R604H|SCN1A_ENST00000409050.1_Missense_Mutation_p.R604H|SCN1A_ENST00000303395.4_Missense_Mutation_p.R604H|AC010127.3_ENST00000595268.1_RNA|AC010127.3_ENST00000599041.1_RNA|AC010127.3_ENST00000595647.1_RNA	p.R604H	NM_001165963.1|NM_001202435.1	NP_001159435.1|NP_001189364.1	P35498	SCN1A_HUMAN			11	1828	-			604		R -> H (in SMEI; uncertain pathological significance; dbSNP:rs121918769).			E9PG49|Q16172|Q585T7|Q8IUJ6|Q96LA3|Q9C008	Missense_Mutation	SNP	ENST00000303395.4	37	c.1811G>A	CCDS54413.1	.	.	.	.	.	.	.	.	.	.	C	13.67	2.305169	0.40795	0.0	0.001628	ENSG00000144285	ENST00000423058;ENST00000303395;ENST00000375405;ENST00000409050	D;D;D;D	0.91945	-2.94;-2.94;-2.94;-2.94	5.37	5.37	0.77165	Domain of unknown function DUF3451 (1);	0.000000	0.64402	D	0.000009	D	0.94768	0.8311	M	0.64567	1.98	0.58432	D	0.999993	D;D;B	0.76494	0.999;0.999;0.219	P;D;B	0.64144	0.855;0.922;0.108	D	0.93070	0.6482	10	0.27082	T	0.32	.	19.0949	0.93246	0.0:1.0:0.0:0.0	.	604;604;604	P35498-2;E9PG49;P35498	.;.;SCN1A_HUMAN	H	604	ENSP00000407030:R604H;ENSP00000303540:R604H;ENSP00000364554:R604H;ENSP00000386312:R604H	ENSP00000303540:R604H	R	-	2	0	SCN1A	166608657	1.000000	0.71417	0.966000	0.40874	0.069000	0.16628	7.773000	0.85462	2.502000	0.84385	0.561000	0.74099	CGT		0.532	SCN1A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102661.1	NM_006920		11	51	0	0	0	1	0	11	51					T	166900411	C	T	166900411	3	4	279	1	0	0	0	0	1	0	0	0	13914	536	19	1	4282	1	SCN1A	2	166900411	Missense_Mutation	SNP	C	TCGA-J4-A83L-01A-11D-A34U-08	41638351	166900411	76298962	5	12889											
SF3B1	23451	broad.mit.edu	37	chr2	198267491	198267491	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gctgttgtgttacggacataCtcatccatgttatctatatc	9	16	7	9	1	2	0	1	0	1	0	4	1	3	1	1	1	2	4	1	1	5	6			TCGA-J4-A83L-01A-11D-A34U-08	TCGA-J4-A83L-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe51bd58-bb0e-41cd-aeee-4bf7aa9579a2	fab25240-6b31-4570-b1dc-8e37d42997d0	g.chr2:198267491C>G	ENST00000335508.6	-	14	1957	c.1866G>C	c.(1864-1866)gaG>gaC	p.E622D	SF3B1_ENST00000462613.1_5'Flank|SNORA4_ENST00000365564.1_RNA	NM_012433.2	NP_036565.2	O75533	SF3B1_HUMAN	splicing factor 3b, subunit 1, 155kDa	622					anterior/posterior pattern specification (GO:0009952)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U12-type spliceosomal complex (GO:0005689)	chromatin binding (GO:0003682)|poly(A) RNA binding (GO:0044822)	p.E622D(16)		NS(35)|breast(10)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(524)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|pancreas(4)|prostate(6)|salivary_gland(1)|skin(4)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	633			OV - Ovarian serous cystadenocarcinoma(117;0.246)			TACGGACATACTCATCCATGT	0.423			Mis		myelodysplastic syndrome																																	ENST00000335508.5				Dom	yes		2	2q33.1	23451	Mis	"splicing factor 3b, subunit 1, 155kDa"			L			myelodysplastic syndrome		16	Substitution - Missense(16)	p.E622D(16)	haematopoietic_and_lymphoid_tissue(12)|NS(4)	NS(35)|breast(10)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(524)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|pancreas(4)|prostate(6)|salivary_gland(1)|skin(4)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	633						c.(1864-1866)gaG>gaC		splicing factor 3b, subunit 1, 155kDa							92	88	90					2																	198267491		2203	4300	6503	SO:0001583	missense	23451				nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|nuclear speck|U12-type spliceosomal complex	protein binding	g.chr2:198267491C>G	AF054284	CCDS33356.1, CCDS46479.1	2q33.1	2014-09-17	2002-08-29		ENSG00000115524	ENSG00000115524			10768	protein-coding gene	gene with protein product		605590	"splicing factor 3b, subunit 1, 155kD"			9585501	Standard	XM_005246428		Approved	SAP155, SF3b155, PRPF10, Prp10, Hsh155	uc002uue.3	O75533	OTTHUMG00000154447	ENST00000335508.6:c.1866G>C	2.37:g.198267491C>G	ENSP00000335321:p.Glu622Asp						p.E622D	NM_012433.2	NP_036565.2	O75533	SF3B1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.246)		14	1957	-			622					E9PCH3	Missense_Mutation	SNP	ENST00000335508.6	37	c.1866G>C	CCDS33356.1	.	.	.	.	.	.	.	.	.	.	C	19.70	3.876884	0.72180	.	.	ENSG00000115524	ENST00000335508	T	0.66280	-0.2	5.69	-4.71	0.03279	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.65811	0.2727	M	0.76328	2.33	0.80722	D	1	P	0.46395	0.877	P	0.49301	0.606	T	0.71998	-0.4423	10	0.56958	D	0.05	.	15.7844	0.78291	0.0:0.3726:0.0:0.6274	.	622	O75533	SF3B1_HUMAN	D	622	ENSP00000335321:E622D	ENSP00000335321:E622D	E	-	3	2	SF3B1	197975736	0.718000	0.27976	0.927000	0.36925	0.994000	0.84299	-0.086000	0.11233	-0.879000	0.04002	-0.471000	0.05019	GAG		0.423	SF3B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335245.2			6	49	0	0	0	1	0	6	49					G	198267491	C	G	198267491	3	3	279	1	0	0	0	0	1	0	0	0	14149	564	20	5	2096	5	SF3B1	2	198267491	Missense_Mutation	SNP	C	TCGA-J4-A83L-01A-11D-A34U-08	31367080	198267491	44931882	6	12890											
WDR48	57599	broad.mit.edu	37	chr3	39093536	39093536	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatggcggcccatcaccggcAgaacacagcagggcggagga	11	2	16	12	3	1	1	1	0	0	1	1	4	1	3	2	6	2	2	2	6	1	0			TCGA-J4-A83L-01A-11D-A34U-08	TCGA-J4-A83L-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe51bd58-bb0e-41cd-aeee-4bf7aa9579a2	fab25240-6b31-4570-b1dc-8e37d42997d0	g.chr3:39093536A>G	ENST00000302313.5	+	1	48	c.20A>G	c.(19-21)cAg>cGg	p.Q7R	WDR48_ENST00000418020.1_5'UTR|WDR48_ENST00000396258.3_5'UTR|WDR48_ENST00000544962.1_Missense_Mutation_p.Q7R	NM_020839.2	NP_065890.1	Q8TAF3	WDR48_HUMAN	WD repeat domain 48	7					double-strand break repair via homologous recombination (GO:0000724)|embryonic organ development (GO:0048568)|homeostasis of number of cells (GO:0048872)|multicellular organism growth (GO:0035264)|positive regulation of epithelial cell proliferation (GO:0050679)|protein deubiquitination (GO:0016579)|regulation of protein monoubiquitination (GO:1902525)|seminiferous tubule development (GO:0072520)|single fertilization (GO:0007338)|skeletal system morphogenesis (GO:0048705)|skin development (GO:0043588)|spermatogenesis (GO:0007283)|viral process (GO:0016032)	intracellular membrane-bounded organelle (GO:0043231)|lysosome (GO:0005764)|nucleus (GO:0005634)				breast(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)		CATCACCGGCAGAACACAGCA	0.647																																						ENST00000302313.5																			0				breast(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15						c.(19-21)cAg>cGg		WD repeat domain 48							73	68	70					3																	39093536		2203	4300	6503	SO:0001583	missense	57599				interspecies interaction between organisms|protein deubiquitination	lysosome|nucleus	protein binding	g.chr3:39093536A>G	AF468833	CCDS33738.1	3p21.33	2014-06-16			ENSG00000114742	ENSG00000114742		"WD repeat domain containing"	30914	protein-coding gene	gene with protein product		612167				10819331, 12196293, 24482476	Standard	NM_020839		Approved	KIAA1449, P80, SPG60	uc003cit.3	Q8TAF3	OTTHUMG00000155972	ENST00000302313.5:c.20A>G	3.37:g.39093536A>G	ENSP00000307491:p.Gln7Arg					WDR48_ENST00000418020.1_5'UTR|WDR48_ENST00000396258.3_5'UTR|WDR48_ENST00000544962.1_Missense_Mutation_p.Q7R	p.Q7R	NM_020839.2	NP_065890.1	Q8TAF3	WDR48_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)	1	48	+			7					B4DM86|B4DQI2|B4DY84|Q63HJ2|Q658Y1|Q8N3Z1|Q9NSK8|Q9P279	Missense_Mutation	SNP	ENST00000302313.5	37	c.20A>G	CCDS33738.1	.	.	.	.	.	.	.	.	.	.	A	14.96	2.690203	0.48097	.	.	ENSG00000114742	ENST00000302313;ENST00000544962	T;D	0.88046	1.21;-2.33	3.94	3.94	0.45596	.	0.000000	0.85682	D	0.000000	T	0.81987	0.4939	L	0.40543	1.245	0.80722	D	1	B;B;B	0.31256	0.219;0.316;0.312	B;B;B	0.33254	0.145;0.16;0.031	T	0.80705	-0.1263	10	0.39692	T	0.17	0.0201	12.9192	0.58222	1.0:0.0:0.0:0.0	.	7;7;7	Q8TAF3-5;Q8TAF3-3;Q8TAF3	.;.;WDR48_HUMAN	R	7	ENSP00000307491:Q7R;ENSP00000445187:Q7R	ENSP00000307491:Q7R	Q	+	2	0	WDR48	39068540	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.176000	0.77643	1.782000	0.52362	0.533000	0.62120	CAG		0.647	WDR48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342529.1	NM_020839		6	17	0	0	0	1	0	6	17					G	39093536	A	G	39093536	3	3	279	1	0	0	0	0	1	0	0	0	17298	188	7	4	22	4	WDR48	3	39093536	Missense_Mutation	SNP	A	TCGA-J4-A83L-01A-11D-A34U-08		39093536	158928894	7	12891											
ALS2CL	259173	broad.mit.edu	37	chr3	46723007	46723007	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tactcacagatgccgtagccAcacatgctgccttctcgcca	9	9	7	16	2	2	1	1	0	1	1	3	1	2	1	4	0	5	2	4	0	2	3			TCGA-J4-A83L-01A-11D-A34U-08	TCGA-J4-A83L-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe51bd58-bb0e-41cd-aeee-4bf7aa9579a2	fab25240-6b31-4570-b1dc-8e37d42997d0	g.chr3:46723007A>C	ENST00000318962.4	-	12	1340	c.1257T>G	c.(1255-1257)tgT>tgG	p.C419W	ALS2CL_ENST00000415953.1_Missense_Mutation_p.C419W	NM_147129.3	NP_667340.2	Q60I27	AL2CL_HUMAN	ALS2 C-terminal like	419					endosome organization (GO:0007032)|protein localization (GO:0008104)	cytoplasmic membrane-bounded vesicle (GO:0016023)	GTPase activator activity (GO:0005096)|identical protein binding (GO:0042802)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(3)|stomach(2)	29				BRCA - Breast invasive adenocarcinoma(193;0.000726)|KIRC - Kidney renal clear cell carcinoma(197;0.0171)|Kidney(197;0.0202)		TGCCGTAGCCACACATGCTGC	0.602																																						ENST00000318962.4																			0				NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(3)|stomach(2)	29						c.(1255-1257)tgT>tgG		ALS2 C-terminal like							133	121	125					3																	46723007		2203	4300	6503	SO:0001583	missense	259173				endosome organization|regulation of Rho protein signal transduction		GTPase activator activity|identical protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr3:46723007A>C	AK074118	CCDS2743.1, CCDS43080.1	3p21.31	2008-01-30			ENSG00000178038	ENSG00000178038			20605	protein-coding gene	gene with protein product		612402				15388334, 8889548, 17239822	Standard	NM_147129		Approved	FLJ36525, RN49018, DKFZp686I0110	uc003cqb.2	Q60I27	OTTHUMG00000128673	ENST00000318962.4:c.1257T>G	3.37:g.46723007A>C	ENSP00000313670:p.Cys419Trp					ALS2CL_ENST00000415953.1_Missense_Mutation_p.C419W	p.C419W	NM_147129.3	NP_667340.2	Q60I27	AL2CL_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000726)|KIRC - Kidney renal clear cell carcinoma(197;0.0171)|Kidney(197;0.0202)	12	1340	-			419					Q32MA1|Q6AI56|Q6ZNC5|Q6ZNC7|Q6ZTL4|Q86YD2|Q8N9U1|Q8NAL7	Missense_Mutation	SNP	ENST00000318962.4	37	c.1257T>G	CCDS2743.1	.	.	.	.	.	.	.	.	.	.	A	11.05	1.523970	0.27299	.	.	ENSG00000178038	ENST00000318962;ENST00000415953	T;T	0.42513	0.97;0.97	3.94	-6.84	0.01687	.	1.760210	0.02688	N	0.110304	T	0.35158	0.0922	L	0.35487	1.065	0.80722	D	1	D	0.53885	0.963	P	0.50754	0.649	T	0.55075	-0.8197	10	0.56958	D	0.05	.	2.8127	0.05446	0.2024:0.2738:0.3999:0.1239	.	419	Q60I27	AL2CL_HUMAN	W	419	ENSP00000313670:C419W;ENSP00000413223:C419W	ENSP00000313670:C419W	C	-	3	2	ALS2CL	46698011	0.000000	0.05858	0.772000	0.31596	0.179000	0.23085	-1.972000	0.01502	-0.986000	0.03498	-0.563000	0.04171	TGT		0.602	ALS2CL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250567.3	NM_147129		8	52	0	0	0	1	0	8	52					C	46723007	A	C	46723007	3	2	279	1	0	0	0	0	1	0	0	0	551	157	6	5	1664	5	ALS2CL	3	46723007	Missense_Mutation	SNP	A	TCGA-J4-A83L-01A-11D-A34U-08	7629471	46723007	151299423	8	12892											
CDH10	1008	broad.mit.edu	37	chr5	24509761	24509761	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atatcttcatgaacttcaaaCagataggaggacctactaaa	17	10	6	8	0	3	2	2	1	1	1	3	4	3	4	1	2	3	0	1	2	7	6			TCGA-J4-A83L-01A-11D-A34U-08	TCGA-J4-A83L-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe51bd58-bb0e-41cd-aeee-4bf7aa9579a2	fab25240-6b31-4570-b1dc-8e37d42997d0	g.chr5:24509761C>G	ENST00000264463.4	-	7	1677	c.1170G>C	c.(1168-1170)ctG>ctC	p.L390L		NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	390	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.L390L(1)		NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		GAACTTCAAACAGATAGGAGG	0.398										HNSCC(23;0.051)																												ENST00000264463.4																			1	Substitution - coding silent(1)	p.L390L(1)	lung(1)	NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185						c.(1168-1170)ctG>ctC		cadherin 10, type 2 (T2-cadherin)							103	103	103					5																	24509761		2203	4300	6503	SO:0001819	synonymous_variant	1008				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:24509761C>G	AF039747	CCDS3892.1	5p14.2	2010-01-26			ENSG00000040731	ENSG00000040731		"Cadherins / Major cadherins"	1749	protein-coding gene	gene with protein product		604555				2059658	Standard	NM_006727		Approved		uc003jgr.2	Q9Y6N8	OTTHUMG00000090667	ENST00000264463.4:c.1170G>C	5.37:g.24509761C>G		HNSCC(23;0.051)					p.L390L	NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN		STAD - Stomach adenocarcinoma(35;0.0556)	7	1677	-			390			Cadherin 4.		Q9ULB3	Silent	SNP	ENST00000264463.4	37	c.1170G>C	CCDS3892.1																																																																																				0.398	CDH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207345.2	NM_006727		13	51	0	0	0	1	0	13	51					G	24509761	C	G	24509761	2	3	279	1	0	0	0	0	0	0	0	1	3096	465	17	5		5	CDH10	5	24509761	Silent	SNP	C	TCGA-J4-A83L-01A-11D-A34U-08		24509761	156405499	9	12893											
ZNF322A	79692	broad.mit.edu	37	chr6	26637700	26637700	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagaagggctgaactctggTggaagcttttatcacataca	13	10	11	7	0	2	2	1	1	1	1	2	4	2	3	0	3	3	2	0	3	6	3			TCGA-J4-A83L-01A-11D-A34U-08	TCGA-J4-A83L-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe51bd58-bb0e-41cd-aeee-4bf7aa9579a2	fab25240-6b31-4570-b1dc-8e37d42997d0	g.chr6:26637700T>A	ENST00000415922.2	-	4	1727	c.1082A>T	c.(1081-1083)cAc>cTc	p.H361L	RP11-457M11.2_ENST00000456172.1_RNA|ZNF322_ENST00000461899.1_5'Flank|ZNF322_ENST00000471278.1_Missense_Mutation_p.H361L	NM_024639.4	NP_078915.2	Q6U7Q0	ZN322_HUMAN	zinc finger protein 322	361					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)										TGAACTCTGGTGGAAGCTTTT	0.428																																						ENST00000415922.2																			0											c.(1081-1083)cAc>cTc		zinc finger protein 322							250	192	212					6																	26637700		2202	4298	6500	SO:0001583	missense	79692				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding	g.chr6:26637700T>A	AY376736	CCDS4617.1	6p22.1	2013-01-08	2011-07-29	2011-07-29	ENSG00000181315	ENSG00000181315		"Zinc fingers, C2H2-type"	23640	protein-coding gene	gene with protein product		610847	"zinc finger protein 489", "HLA complex group 12", "zinc finger protein 322A"	ZNF489, ZNF388, HCG12, ZNF322A		15555580	Standard	NM_024639		Approved	bA457M11.3, bA457M11.2	uc021yny.1	Q6U7Q0	OTTHUMG00000014460	ENST00000415922.2:c.1082A>T	6.37:g.26637700T>A	ENSP00000418897:p.His361Leu					ZNF322_ENST00000471278.1_Missense_Mutation_p.H361L	p.H361L	NM_024639.4	NP_078915.2	Q6U7Q0	Z322A_HUMAN			4	1727	-			361					A8K1X3|Q0VDH6|Q6B0G2|Q86W72|Q9H5I9	Missense_Mutation	SNP	ENST00000415922.2	37	c.1082A>T	CCDS4617.1	.	.	.	.	.	.	.	.	.	.	t	7.937	0.741938	0.15642	.	.	ENSG00000181315	ENST00000415922;ENST00000471278	T;T	0.14022	2.54;2.54	4.9	2.36	0.29203	.	0.139267	0.33235	N	0.005129	T	0.01421	0.0046	N	0.03967	-0.31	0.09310	N	1	B	0.14805	0.011	B	0.14578	0.011	T	0.41840	-0.9486	10	0.52906	T	0.07	-9.2604	1.6502	0.02770	0.1675:0.0949:0.1742:0.5633	.	361	Q6U7Q0	ZN322_HUMAN	L	361	ENSP00000418897:H361L;ENSP00000419728:H361L	ENSP00000418897:H361L	H	-	2	0	ZNF322	26745679	0.000000	0.05858	1.000000	0.80357	0.991000	0.79684	-2.236000	0.01201	1.000000	0.39049	0.533000	0.62120	CAC		0.428	ZNF322-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040126.2	NM_024639		8	373	0	0	0	1	0	8	373					A	26637700	T	A	26637700	3	1	279	1	0	0	0	0	1	0	0	0	17838	1696	59	5	130	5	ZNF322A	6	26637700	Missense_Mutation	SNP	T	TCGA-J4-A83L-01A-11D-A34U-08		26637700	144477367	10	12894											
B3GALT4	8705	broad.mit.edu	37	chr6	33245516	33245516	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgggggctcagggtacagaCgctattcttgctgggagagc	7	8	16	10	2	2	2	1	0	1	2	2	3	2	2	1	4	3	4	1	4	2	4			TCGA-J4-A83L-01A-11D-A34U-08	TCGA-J4-A83L-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe51bd58-bb0e-41cd-aeee-4bf7aa9579a2	fab25240-6b31-4570-b1dc-8e37d42997d0	g.chr6:33245516C>G	ENST00000451237.1	+	1	600	c.320C>G	c.(319-321)aCg>aGg	p.T107R		NM_003782.3	NP_003773.1	O96024	B3GT4_HUMAN	UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 4	107					protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	ganglioside galactosyltransferase activity (GO:0047915)|UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity (GO:0008499)			breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|pancreas(1)|prostate(1)|soft_tissue(1)|urinary_tract(2)	13						AGGGTACAGACGCTATTCTTG	0.657																																						ENST00000451237.1																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|pancreas(1)|prostate(1)|soft_tissue(1)|urinary_tract(2)	13						c.(319-321)aCg>aGg		UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 4							63	78	73					6																	33245516		2203	4300	6503	SO:0001583	missense	8705				protein glycosylation	Golgi membrane|integral to membrane	ganglioside galactosyltransferase activity|UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity	g.chr6:33245516C>G	Y15061	CCDS34425.1	6p21.3	2013-02-19			ENSG00000235863	ENSG00000235863		"Beta 3-glycosyltransferases"	919	protein-coding gene	gene with protein product		603095				9582303	Standard	NM_003782		Approved	beta3Gal-T4, GalT4	uc003odr.3	O96024	OTTHUMG00000031100	ENST00000451237.1:c.320C>G	6.37:g.33245516C>G	ENSP00000390784:p.Thr107Arg						p.T107R	NM_003782.3	NP_003773.1	O96024	B3GT4_HUMAN			1	600	+			107						Missense_Mutation	SNP	ENST00000451237.1	37	c.320C>G	CCDS34425.1	.	.	.	.	.	.	.	.	.	.	C	16.00	2.999675	0.54147	.	.	ENSG00000235863	ENST00000451237	T	0.43688	0.94	4.54	3.67	0.42095	.	0.000000	0.85682	D	0.000000	T	0.21227	0.0511	L	0.31752	0.955	0.43399	D	0.995526	P	0.43607	0.812	P	0.47251	0.542	T	0.02196	-1.1197	10	0.24483	T	0.36	.	10.4706	0.44635	0.0:0.9046:0.0:0.0954	.	107	O96024	B3GT4_HUMAN	R	107	ENSP00000390784:T107R	ENSP00000390784:T107R	T	+	2	0	B3GALT4	33353494	0.873000	0.30073	0.992000	0.48379	0.544000	0.35116	1.717000	0.37991	1.132000	0.42129	0.549000	0.68633	ACG		0.657	B3GALT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076162.2			12	92	0	0	0	1	0	12	92					G	33245516	C	G	33245516	3	3	279	1	0	0	0	0	1	0	0	0	1249	536	19	5	322	5	B3GALT4	6	33245516	Missense_Mutation	SNP	C	TCGA-J4-A83L-01A-11D-A34U-08	6607816	33245516	137869551	11	12895											
COL12A1	1303	broad.mit.edu	37	chr6	75887568	75887568	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tataattcgatatcttaaaaCtctccctggagcttgagtcc	11	14	6	10	1	2	1	0	1	2	0	5	3	3	2	2	1	2	1	2	1	5	6			TCGA-J4-A83L-01A-11D-A34U-08	TCGA-J4-A83L-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe51bd58-bb0e-41cd-aeee-4bf7aa9579a2	fab25240-6b31-4570-b1dc-8e37d42997d0	g.chr6:75887568C>G	ENST00000322507.8	-	12	2557	c.2248G>C	c.(2248-2250)Gtt>Ctt	p.V750L	COL12A1_ENST00000416123.2_Missense_Mutation_p.V750L|COL12A1_ENST00000483888.2_Missense_Mutation_p.V750L|COL12A1_ENST00000345356.6_Intron	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	750	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	collagen type XII trimer (GO:0005595)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|vesicle (GO:0031982)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)			breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						TATCTTAAAACTCTCCCTGGA	0.413																																						ENST00000322507.8																			0				breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						c.(2248-2250)Gtt>Ctt		collagen, type XII, alpha 1							152	150	151					6																	75887568		1848	4098	5946	SO:0001583	missense	1303				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength	g.chr6:75887568C>G	U73779	CCDS43481.1, CCDS43482.1	6q12-q13	2013-02-11	2003-07-24		ENSG00000111799	ENSG00000111799		"Proteoglycans / Extracellular Matrix : Collagen proteoglycans", "Collagens", "Fibronectin type III domain containing"	2188	protein-coding gene	gene with protein product	"collagen type XII proteoglycan"	120320	"collagen, type XII, alpha 1-like"	COL12A1L		9143499	Standard	XM_006715334		Approved		uc003phs.3	Q99715	OTTHUMG00000015051	ENST00000322507.8:c.2248G>C	6.37:g.75887568C>G	ENSP00000325146:p.Val750Leu					COL12A1_ENST00000416123.2_Missense_Mutation_p.V750L|COL12A1_ENST00000345356.6_Intron|COL12A1_ENST00000483888.2_Missense_Mutation_p.V750L	p.V750L	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN			12	2557	-			750			Fibronectin type-III 4.		O43853|Q15955|Q5VYK1|Q5VYK2|Q71UR3|Q99716	Missense_Mutation	SNP	ENST00000322507.8	37	c.2248G>C	CCDS43482.1	.	.	.	.	.	.	.	.	.	.	C	34	5.301152	0.95601	.	.	ENSG00000111799	ENST00000322507;ENST00000432784;ENST00000416123;ENST00000483888	T;T;T	0.57436	0.4;0.4;0.4	5.87	5.87	0.94306	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000007	T	0.69797	0.3151	M	0.72576	2.205	0.58432	D	0.999998	D;D	0.71674	0.998;0.998	D;D	0.83275	0.996;0.996	T	0.71251	-0.4648	10	0.87932	D	0	.	20.1991	0.98252	0.0:1.0:0.0:0.0	.	750;750	D6RGG3;Q99715	.;COCA1_HUMAN	L	750	ENSP00000325146:V750L;ENSP00000412864:V750L;ENSP00000421216:V750L	ENSP00000325146:V750L	V	-	1	0	COL12A1	75944288	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.277000	0.78572	2.775000	0.95449	0.650000	0.86243	GTT		0.413	COL12A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041249.3	NM_004370		8	147	0	0	0	1	0	8	147					G	75887568	C	G	75887568	3	3	279	1	0	0	0	0	1	0	0	0	3669	565	20	5	7163	5	COL12A1	6	75887568	Missense_Mutation	SNP	C	TCGA-J4-A83L-01A-11D-A34U-08	42642052	75887568	95227499	12	12896											
USP45	85015	broad.mit.edu	37	chr6	99936563	99936563	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctgatgactcttacctgcatGactgcattaaaaaagcaagt	14	11	7	9	0	1	3	0	3	1	0	1	3	1	3	1	0	4	3	1	0	5	2			TCGA-J4-A83L-01A-11D-A34U-08	TCGA-J4-A83L-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe51bd58-bb0e-41cd-aeee-4bf7aa9579a2	fab25240-6b31-4570-b1dc-8e37d42997d0	g.chr6:99936563G>C	ENST00000327681.6	-	6	1144	c.612C>G	c.(610-612)gtC>gtG	p.V204V	USP45_ENST00000472914.2_Silent_p.V204V|USP45_ENST00000392738.2_5'UTR|USP45_ENST00000329966.6_Silent_p.V204V|USP45_ENST00000369233.2_Silent_p.V204V|USP45_ENST00000500704.2_Silent_p.V204V	NM_001080481.1	NP_001073950.1	Q70EL2	UBP45_HUMAN	ubiquitin specific peptidase 45	204	USP.				protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(6)|lung(2)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	22		all_cancers(76;0.000208)|Acute lymphoblastic leukemia(125;8.41e-11)|all_hematologic(75;2.56e-07)|all_epithelial(107;0.122)|Colorectal(196;0.133)		BRCA - Breast invasive adenocarcinoma(108;0.0718)		TTACCTGCATGACTGCATTAA	0.318																																						ENST00000327681.6																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(6)|lung(2)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	22						c.(610-612)gtC>gtG		ubiquitin specific peptidase 45							80	81	81					6																	99936563		2202	4294	6496	SO:0001819	synonymous_variant	85015				ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity|zinc ion binding	g.chr6:99936563G>C	AL832030	CCDS34501.1	6q16.2	2008-02-05	2005-08-08		ENSG00000123552	ENSG00000123552		"Ubiquitin-specific peptidases"	20080	protein-coding gene	gene with protein product			"ubiquitin specific protease 45"			12838346	Standard	NM_001080481		Approved	MGC14793	uc003ppx.2	Q70EL2	OTTHUMG00000015267	ENST00000327681.6:c.612C>G	6.37:g.99936563G>C						USP45_ENST00000500704.2_Silent_p.V204V|USP45_ENST00000329966.5_Silent_p.V204V|USP45_ENST00000392738.2_5'UTR|USP45_ENST00000369233.2_Silent_p.V204V|USP45_ENST00000472914.2_Silent_p.V204V	p.V204V	NM_001080481.1	NP_001073950.1	Q70EL2	UBP45_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0718)	6	1144	-		all_cancers(76;0.000208)|Acute lymphoblastic leukemia(125;8.41e-11)|all_hematologic(75;2.56e-07)|all_epithelial(107;0.122)|Colorectal(196;0.133)	204					B2RXG0|Q5T062|Q86T44|Q86TC0|Q9BRU1	Silent	SNP	ENST00000327681.6	37	c.612C>G	CCDS34501.1																																																																																				0.318	USP45-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041609.2	NM_032929		4	138	0	0	0	1	0	4	138					C	99936563	G	C	99936563	2	2	279	1	0	0	0	0	0	0	0	1	17073	1277	45	5		5	USP45	6	99936563	Silent	SNP	G	TCGA-J4-A83L-01A-11D-A34U-08	24048995	99936563	71178504	13	12897											
MYCT1	80177	broad.mit.edu	37	chr6	153043043	153043043	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcttacacccacggcctcaaCagaactggattttaccgcca	11	9	6	15	2	2	1	1	0	1	1	2	2	2	2	4	2	4	0	4	2	4	3			TCGA-J4-A83L-01A-11D-A34U-08	TCGA-J4-A83L-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe51bd58-bb0e-41cd-aeee-4bf7aa9579a2	fab25240-6b31-4570-b1dc-8e37d42997d0	g.chr6:153043043C>A	ENST00000367245.5	+	2	371	c.363C>A	c.(361-363)aaC>aaA	p.N121K	MYCT1_ENST00000529453.1_Intron	NM_025107.2	NP_079383.2	Q8N699	MYCT1_HUMAN	myc target 1	121						nucleus (GO:0005634)				NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	20		Ovarian(120;0.0654)		OV - Ovarian serous cystadenocarcinoma(155;1.33e-10)|BRCA - Breast invasive adenocarcinoma(81;0.143)		ACGGCCTCAACAGAACTGGAT	0.517																																						ENST00000367245.5																			0				NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	20						c.(361-363)aaC>aaA		myc target 1							121	115	117					6																	153043043		2203	4300	6503	SO:0001583	missense	80177					nucleus		g.chr6:153043043C>A	AF527367	CCDS5239.1	6q25.1	2008-02-05			ENSG00000120279	ENSG00000120279			23172	protein-coding gene	gene with protein product						12477932	Standard	NM_025107		Approved	MTLC, FLJ21269	uc003qpc.4	Q8N699	OTTHUMG00000015850	ENST00000367245.5:c.363C>A	6.37:g.153043043C>A	ENSP00000356214:p.Asn121Lys					MYCT1_ENST00000529453.1_Intron	p.N121K	NM_025107.2	NP_079383.2	Q8N699	MYCT1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;1.33e-10)|BRCA - Breast invasive adenocarcinoma(81;0.143)	2	371	+		Ovarian(120;0.0654)	121					Q8N396|Q8TBE8|Q9H763	Missense_Mutation	SNP	ENST00000367245.5	37	c.363C>A	CCDS5239.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.34|17.34	3.365162|3.365162	0.61513|0.61513	.|.	.|.	ENSG00000120279|ENSG00000120279	ENST00000367245|ENST00000532295	T|.	0.32515|.	1.45|.	5.78|5.78	5.78|5.78	0.91487|0.91487	.|.	0.611268|.	0.18963|.	N|.	0.126332|.	T|T	0.56455|0.56455	0.1986|0.1986	L|L	0.60455|0.60455	1.87|1.87	0.80722|0.80722	D|D	1|1	B|.	0.31548|.	0.328|.	B|.	0.27380|.	0.079|.	T|T	0.55108|0.55108	-0.8192|-0.8192	10|5	0.25751|.	T|.	0.34|.	-7.4053|-7.4053	13.2405|13.2405	0.59994|0.59994	0.0:0.9275:0.0:0.0724|0.0:0.9275:0.0:0.0724	.|.	121|.	Q8N699|.	MYCT1_HUMAN|.	K|K	121|102	ENSP00000356214:N121K|.	ENSP00000356214:N121K|.	N|T	+|+	3|2	2|0	MYCT1|MYCT1	153084736|153084736	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.989000|0.989000	0.77384|0.77384	2.956000|2.956000	0.49129|0.49129	2.727000|2.727000	0.93392|0.93392	0.579000|0.579000	0.79373|0.79373	AAC|ACA		0.517	MYCT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042750.2	NM_025107		4	72	1	0	0.014758	1	0.014758	4	72					A	153043043	C	A	153043043	3	1	279	1	0	0	0	0	1	0	0	0	10022	477	17	5	369	5	MYCT1	6	153043043	Missense_Mutation	SNP	C	TCGA-J4-A83L-01A-11D-A34U-08	53106480	153043043	18072024	14	12898											
SERPINE1	5054	broad.mit.edu	37	chr7	100779051	100779051	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aaagtgaagatcgaggtgaaCgagagtggcacggtggcctc	12	6	16	7	3	0	4	0	2	0	2	2	6	0	4	1	4	1	1	1	4	3	0	rs538551265		TCGA-J4-A83L-01A-11D-A34U-08	TCGA-J4-A83L-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe51bd58-bb0e-41cd-aeee-4bf7aa9579a2	fab25240-6b31-4570-b1dc-8e37d42997d0	g.chr7:100779051C>T	ENST00000223095.4	+	7	1213	c.1056C>T	c.(1054-1056)aaC>aaT	p.N352N	SERPINE1_ENST00000445463.2_Silent_p.N337N	NM_000602.4	NP_000593.1	P05121	PAI1_HUMAN	serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1	352					angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cellular response to lipopolysaccharide (GO:0071222)|chronological cell aging (GO:0001300)|defense response to Gram-negative bacterium (GO:0050829)|extracellular matrix organization (GO:0030198)|fibrinolysis (GO:0042730)|gene expression (GO:0010467)|negative regulation of blood coagulation (GO:0030195)|negative regulation of cell adhesion mediated by integrin (GO:0033629)|negative regulation of cell migration (GO:0030336)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of fibrinolysis (GO:0051918)|negative regulation of plasminogen activation (GO:0010757)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of smooth muscle cell-matrix adhesion (GO:2000098)|negative regulation of vascular wound healing (GO:0061044)|negative regulation of wound healing (GO:0061045)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood coagulation (GO:0030194)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of leukotriene production involved in inflammatory response (GO:0035491)|positive regulation of monocyte chemotaxis (GO:0090026)|positive regulation of receptor-mediated endocytosis (GO:0048260)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell proliferation (GO:0042127)|regulation of receptor activity (GO:0010469)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	protease binding (GO:0002020)|serine-type endopeptidase inhibitor activity (GO:0004867)			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(3)	20	Lung NSC(181;0.136)|all_lung(186;0.182)				Alteplase(DB00009)|Anistreplase(DB00029)|Drotrecogin alfa(DB00055)|Reteplase(DB00015)|Tenecteplase(DB00031)|Urokinase(DB00013)	TCGAGGTGAACGAGAGTGGCA	0.582																																						ENST00000223095.4																			0				central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(3)	20						c.(1054-1056)aaC>aaT		serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1	Atorvastatin(DB01076)|Dimethyl sulfoxide(DB01093)|Drotrecogin alfa(DB00055)|Simvastatin(DB00641)|Tenecteplase(DB00031)|Troglitazone(DB00197)|Urokinase(DB00013)						86	77	80					7																	100779051		2203	4300	6503	SO:0001819	synonymous_variant	5054				angiogenesis|cellular response to chemical stimulus|cellular response to lipopolysaccharide|chronological cell aging|defense response to Gram-negative bacterium|fibrinolysis|negative regulation of apoptosis|negative regulation of cell adhesion mediated by integrin|negative regulation of fibrinolysis|negative regulation of plasminogen activation|negative regulation of smooth muscle cell migration|negative regulation of smooth muscle cell-matrix adhesion|negative regulation of vascular wound healing|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of interleukin-8 production|positive regulation of leukotriene production involved in inflammatory response|positive regulation of monocyte chemotaxis|positive regulation of receptor-mediated endocytosis|regulation of receptor activity	extracellular matrix|extracellular space|plasma membrane|platelet alpha granule lumen	protease binding|serine-type endopeptidase inhibitor activity	g.chr7:100779051C>T	M16006	CCDS5711.1	7q22.1	2014-02-18	2005-08-18		ENSG00000106366	ENSG00000106366		"Serine (or cysteine) peptidase inhibitors"	8583	protein-coding gene	gene with protein product	"plasminogen activator inhibitor, type I"	173360	"serine (or cysteine) proteinase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1"	PLANH1, PAI1		3097076, 2891140, 24172014	Standard	NM_000602		Approved	PAI	uc003uxt.4	P05121	OTTHUMG00000157107	ENST00000223095.4:c.1056C>T	7.37:g.100779051C>T						SERPINE1_ENST00000445463.2_Silent_p.N337N	p.N352N	NM_000602.4	NP_000593.1	P05121	PAI1_HUMAN			7	1213	+	Lung NSC(181;0.136)|all_lung(186;0.182)		352					B7Z4S0|F8WD53	Silent	SNP	ENST00000223095.4	37	c.1056C>T	CCDS5711.1																																																																																				0.582	SERPINE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347458.1	NM_000602		5	50	0	0	0	1	0	5	50					T	100779051	C	T	100779051	2	4	279	1	0	0	0	0	0	0	0	1	14111	535	19	1		1	SERPINE1	7	100779051	Silent	SNP	C	TCGA-J4-A83L-01A-11D-A34U-08		100779051	58359612	15	12899											
MLL3	58508	broad.mit.edu	37	chr7	151836813	151836813	+	Frame_Shift_Del	DEL	T	T	-																															tacttcgtttcgaatgatagTcccgatgtactcaatgacca																										TCGA-J4-A83L-01A-11D-A34U-08	TCGA-J4-A83L-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe51bd58-bb0e-41cd-aeee-4bf7aa9579a2	fab25240-6b31-4570-b1dc-8e37d42997d0	g.chr7:151836813delT	ENST00000262189.6	-	56	14625	c.14407delA	c.(14407-14409)actfs	p.T4803fs	KMT2C_ENST00000485655.2_Frame_Shift_Del_p.T8fs|KMT2C_ENST00000355193.2_Frame_Shift_Del_p.T4860fs	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	4803	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										CGAATGATAGTCCCGATGTAC	0.448																																						ENST00000355193.2																			0											c.(14578-14580)ctfs		lysine (K)-specific methyltransferase 2C							286	218	241					7																	151836813		2203	4300	6503	SO:0001589	frameshift_variant	58508							g.chr7:151836813delT	AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	13726	protein-coding gene	gene with protein product		606833	"myeloid/lymphoid or mixed-lineage leukemia 3"	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.14407delA	7.37:g.151836813delT	ENSP00000262189:p.Thr4803fs					KMT2C_ENST00000485655.2_Frame_Shift_Del_p.T8fs|KMT2C_ENST00000262189.6_Frame_Shift_Del_p.T4803fs	p.T4860fs							57	14796	-								Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Frame_Shift_Del	DEL	ENST00000262189.6	37	c.14578delA	CCDS5931.1																																																																																				0.448	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3			9	95						9	95	---	---	---	---	-	151836813	T	-	151836813	7	5	279	1	0	1	0	1	0	0	0	0	9622	1667	58	0	344	0	MLL3	7	151836813	Frame_Shift_Del	DEL	T	TCGA-J4-A83L-01A-11D-A34U-08	51057762	151836813	7301850	16	12900											
TNFRSF10D	8793	broad.mit.edu	37	chr8	23002139	23002139	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgaaggacatgaacgccgccGgaaaaggaccttgggaagac	14	4	14	9	3	0	3	0	2	0	1	0	7	0	7	3	4	1	0	3	4	5	1			TCGA-J4-A83L-01A-11D-A34U-08	TCGA-J4-A83L-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe51bd58-bb0e-41cd-aeee-4bf7aa9579a2	fab25240-6b31-4570-b1dc-8e37d42997d0	g.chr8:23002139G>A	ENST00000312584.3	-	7	872	c.778C>T	c.(778-780)Cgg>Tgg	p.R260W		NM_003840.4	NP_003831.2	Q9UBN6	TR10D_HUMAN	tumor necrosis factor receptor superfamily, member 10d, decoy with truncated death domain	260					apoptotic process (GO:0006915)|negative regulation of apoptotic process (GO:0043066)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	transmembrane signaling receptor activity (GO:0004888)			endometrium(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	9		Prostate(55;0.0421)|Breast(100;0.067)		Colorectal(74;0.0147)|COAD - Colon adenocarcinoma(73;0.0612)		GAACGCCGCCGGAAAAGGACC	0.602																																						ENST00000312584.3																			0				endometrium(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	9						c.(778-780)Cgg>Tgg		tumor necrosis factor receptor superfamily, member 10d, decoy with truncated death domain							51	50	50					8																	23002139		2203	4300	6503	SO:0001583	missense	8793				anti-apoptosis|apoptosis	integral to membrane	TRAIL binding|transmembrane receptor activity	g.chr8:23002139G>A	AF029761	CCDS6038.1	8p21	2006-02-22			ENSG00000173530	ENSG00000173530		"Tumor necrosis factor receptor superfamily", "CD molecules"	11907	protein-coding gene	gene with protein product		603614				9382840, 9537512	Standard	NM_003840		Approved	DcR2, TRUNDD, TRAILR4, CD264	uc003xcz.2	Q9UBN6	OTTHUMG00000097845	ENST00000312584.3:c.778C>T	8.37:g.23002139G>A	ENSP00000310263:p.Arg260Trp						p.R260W	NM_003840.4	NP_003831.2	Q9UBN6	TR10D_HUMAN		Colorectal(74;0.0147)|COAD - Colon adenocarcinoma(73;0.0612)	7	872	-		Prostate(55;0.0421)|Breast(100;0.067)	260					B2R8W0|Q9Y6Q4	Missense_Mutation	SNP	ENST00000312584.3	37	c.778C>T	CCDS6038.1	.	.	.	.	.	.	.	.	.	.	G	9.645	1.140050	0.21205	.	.	ENSG00000173530	ENST00000312584	D	0.82433	-1.61	1.87	-2.53	0.06326	.	2.353560	0.02301	U	0.071212	T	0.63165	0.2488	N	0.05078	-0.115	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.51411	-0.8709	10	0.42905	T	0.14	.	1.8841	0.03235	0.3911:0.0:0.2082:0.4006	.	260	Q9UBN6	TR10D_HUMAN	W	260	ENSP00000310263:R260W	ENSP00000310263:R260W	R	-	1	2	TNFRSF10D	23058084	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	-2.821000	0.00749	-0.360000	0.08138	-0.672000	0.03802	CGG		0.602	TNFRSF10D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215135.1			3	42	0	0	0	1	0	3	42					A	23002139	G	A	23002139	3	1	279	1	0	0	0	0	1	0	0	0	16280	1115	39	2	394	2	TNFRSF10D	8	23002139	Missense_Mutation	SNP	G	TCGA-J4-A83L-01A-11D-A34U-08		23002139	123361883	17	12901											
UNC5D	137970	broad.mit.edu	37	chr8	35579908	35579908	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttcaacttcaaaacagtccGtcaaggtcagcggcataggt	12	9	9	11	2	4	0	4	0	0	0	5	0	5	0	1	3	3	1	1	3	5	3	rs144081400	byFrequency	TCGA-J4-A83L-01A-11D-A34U-08	TCGA-J4-A83L-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe51bd58-bb0e-41cd-aeee-4bf7aa9579a2	fab25240-6b31-4570-b1dc-8e37d42997d0	g.chr8:35579908G>A	ENST00000404895.2	+	9	1626	c.1298G>A	c.(1297-1299)cGt>cAt	p.R433H	UNC5D_ENST00000449677.1_5'Flank|UNC5D_ENST00000453357.2_Missense_Mutation_p.R428H|UNC5D_ENST00000287272.2_Intron|UNC5D_ENST00000420357.1_Missense_Mutation_p.R366H|UNC5D_ENST00000416672.1_Missense_Mutation_p.R438H	NM_080872.2	NP_543148.2	Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D (C. elegans)	433					apoptotic process (GO:0006915)|axon guidance (GO:0007411)|pyramidal neuron differentiation (GO:0021859)|regulation of neuron migration (GO:2001222)|signal transduction (GO:0007165)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)				NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		AAAACAGTCCGTCAAGGTCAG	0.552																																						ENST00000453357.2																			0				NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112						c.(1282-1284)cGt>cAt		unc-5 homolog D (C. elegans)		G	HIS/ARG	2,4404	4.2+/-10.8	0,2,2201	166	139	148		1298	5.1	1	8	dbSNP_134	148	24,8576	17.3+/-56.4	0,24,4276	yes	missense	UNC5D	NM_080872.2	29	0,26,6477	AA,AG,GG		0.2791,0.0454,0.1999	possibly-damaging	433/954	35579908	26,12980	2203	4300	6503	SO:0001583	missense	137970				apoptosis|axon guidance	integral to membrane	receptor activity	g.chr8:35579908G>A	AB055056	CCDS6093.2	8p12	2013-01-11			ENSG00000156687	ENSG00000156687		"Immunoglobulin superfamily / I-set domain containing"	18634	protein-coding gene	gene with protein product						18402767	Standard	NM_080872		Approved	KIAA1777, Unc5h4	uc003xjr.2	Q6UXZ4	OTTHUMG00000157145	ENST00000404895.2:c.1298G>A	8.37:g.35579908G>A	ENSP00000385143:p.Arg433His					UNC5D_ENST00000416672.1_Missense_Mutation_p.R438H|UNC5D_ENST00000420357.1_Missense_Mutation_p.R366H|UNC5D_ENST00000287272.2_Intron|UNC5D_ENST00000404895.2_Missense_Mutation_p.R433H	p.R428H			Q6UXZ4	UNC5D_HUMAN		READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)	9	1339	+			433					Q8WYP7	Missense_Mutation	SNP	ENST00000404895.2	37	c.1283G>A	CCDS6093.2	.	.	.	.	.	.	.	.	.	.	G	20.8	4.045855	0.75846	4.54E-4	0.002791	ENSG00000156687	ENST00000404895;ENST00000420357;ENST00000416672;ENST00000453357	T;T;T;T	0.57907	0.4;0.81;0.4;0.37	5.95	5.07	0.68467	.	0.045689	0.85682	D	0.000000	T	0.58119	0.2100	M	0.77486	2.375	0.80722	D	1	P;P;P	0.49559	0.877;0.925;0.877	B;B;B	0.43052	0.23;0.406;0.23	T	0.66654	-0.5869	10	0.72032	D	0.01	-12.6544	15.003	0.71489	0.069:0.0:0.931:0.0	.	438;428;433	C9J2B6;Q6UXZ4-2;Q6UXZ4	.;.;UNC5D_HUMAN	H	433;366;438;428	ENSP00000385143:R433H;ENSP00000392739:R366H;ENSP00000412652:R438H;ENSP00000394303:R428H	ENSP00000385143:R433H	R	+	2	0	UNC5D	35699450	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.418000	0.73341	1.513000	0.48852	0.650000	0.86243	CGT		0.552	UNC5D-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000347586.2			19	80	0	0	0	1	0	19	80					A	35579908	G	A	35579908	3	1	279	1	0	0	0	0	1	0	0	0	16992	1145	40	1	1332	1	UNC5D	8	35579908	Missense_Mutation	SNP	G	TCGA-J4-A83L-01A-11D-A34U-08	12577769	35579908	110784114	18	12902											
ACO1	48	broad.mit.edu	37	chr9	32408558	32408558	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcaatgcgtgatgctgtgAaaaagttaggaggagatcca	13	9	13	6	1	0	3	0	2	0	1	1	5	1	4	1	2	3	3	1	2	4	1			TCGA-J4-A83L-01A-11D-A34U-08	TCGA-J4-A83L-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe51bd58-bb0e-41cd-aeee-4bf7aa9579a2	fab25240-6b31-4570-b1dc-8e37d42997d0	g.chr9:32408558A>G	ENST00000309951.6	+	4	451	c.313A>G	c.(313-315)Aaa>Gaa	p.K105E	ACO1_ENST00000379923.1_Missense_Mutation_p.K105E|ACO1_ENST00000541043.1_Missense_Mutation_p.K6E	NM_002197.2	NP_002188.1	P21399	ACOC_HUMAN	aconitase 1, soluble	105					cellular iron ion homeostasis (GO:0006879)|citrate metabolic process (GO:0006101)|intestinal absorption (GO:0050892)|post-embryonic development (GO:0009791)|regulation of translation (GO:0006417)|response to iron(II) ion (GO:0010040)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)	4 iron, 4 sulfur cluster binding (GO:0051539)|aconitate hydratase activity (GO:0003994)|iron-responsive element binding (GO:0030350)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)			breast(1)|endometrium(7)|kidney(5)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	30			LUSC - Lung squamous cell carcinoma(29;0.00813)	GBM - Glioblastoma multiforme(74;3.94e-06)		TGATGCTGTGAAAAAGTTAGG	0.428																																						ENST00000379923.1																			0				breast(1)|endometrium(7)|kidney(5)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	30						c.(313-315)Aaa>Gaa		aconitase 1, soluble							171	161	164					9																	32408558		2203	4300	6503	SO:0001583	missense	48				citrate metabolic process|response to iron(II) ion|tricarboxylic acid cycle	cytosol|endoplasmic reticulum|Golgi apparatus	4 iron, 4 sulfur cluster binding|aconitate hydratase activity|citrate hydro-lyase (cis-aconitate-forming) activity|iron-responsive element binding|isocitrate hydro-lyase (cis-aconitate-forming) activity|metal ion binding|protein binding	g.chr9:32408558A>G	M58510	CCDS6525.1	9p21.1	2013-05-21			ENSG00000122729	ENSG00000122729	4.2.1.3		117	protein-coding gene	gene with protein product	"aconitate hydratase, cytoplasmic"	100880		IREB1		2172968, 2771641	Standard	NM_002197		Approved	IRP1, IREBP	uc003zqw.4	P21399	OTTHUMG00000019740	ENST00000309951.6:c.313A>G	9.37:g.32408558A>G	ENSP00000309477:p.Lys105Glu					ACO1_ENST00000309951.5_Missense_Mutation_p.K105E|ACO1_ENST00000541043.1_Missense_Mutation_p.K6E	p.K105E	NM_001278352.1	NP_001265281.1	P21399	ACOC_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.00813)	GBM - Glioblastoma multiforme(74;3.94e-06)	5	519	+			105					D3DRK7|Q14652|Q5VZA7	Missense_Mutation	SNP	ENST00000309951.6	37	c.313A>G	CCDS6525.1	.	.	.	.	.	.	.	.	.	.	A	10.85	1.465832	0.26335	.	.	ENSG00000122729	ENST00000432017;ENST00000309951;ENST00000379923;ENST00000379921;ENST00000541043	T;T;T	0.44482	0.92;0.92;2.27	5.75	4.59	0.56863	Aconitase/3-isopropylmalate dehydratase large subunit, alpha/beta/alpha, subdomain 1/3 (1);Aconitase/3-isopropylmalate dehydratase large subunit, alpha/beta/alpha (2);	0.083437	0.85682	N	0.000000	T	0.34948	0.0915	L	0.46614	1.455	0.48395	D	0.999647	B	0.02656	0.0	B	0.04013	0.001	T	0.08911	-1.0699	10	0.28530	T	0.3	-4.7312	11.0522	0.47896	0.9252:0.0:0.0748:0.0	.	105	P21399	ACOC_HUMAN	E	141;105;105;105;6	ENSP00000309477:K105E;ENSP00000369255:K105E;ENSP00000438733:K6E	ENSP00000309477:K105E	K	+	1	0	ACO1	32398558	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.228000	0.72288	0.964000	0.38108	0.533000	0.62120	AAA		0.428	ACO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051998.3	NM_002197		12	102	0	0	0	1	0	12	102					G	32408558	A	G	32408558	3	3	279	1	0	0	0	0	1	0	0	0	146	247	9	4	323	4	ACO1	9	32408558	Missense_Mutation	SNP	A	TCGA-J4-A83L-01A-11D-A34U-08		32408558	108804873	19	12903											
MCM10	55388	broad.mit.edu	37	chr10	13213058	13213058	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tttgatgagctctttgatgcCgacggcgacggtgaatctta	8	13	12	8	4	2	4	0	4	2	0	2	6	2	4	1	2	2	1	1	2	2	3			TCGA-J4-A83L-01A-11D-A34U-08	TCGA-J4-A83L-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe51bd58-bb0e-41cd-aeee-4bf7aa9579a2	fab25240-6b31-4570-b1dc-8e37d42997d0	g.chr10:13213058C>T	ENST00000484800.2	+	3	247	c.144C>T	c.(142-144)gcC>gcT	p.A48A	MCM10_ENST00000378714.3_Silent_p.A48A|MCM10_ENST00000378694.1_Silent_p.A48A			Q7L590	MCM10_HUMAN	minichromosome maintenance complex component 10	48	N-terminal domain. {ECO:0000250}.				cell proliferation (GO:0008283)|DNA replication (GO:0006260)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)			central_nervous_system(1)|large_intestine(4)|ovary(2)|skin(1)|stomach(1)	9						TCTTTGATGCCGACGGCGACG	0.458																																						ENST00000378694.1																			0				central_nervous_system(1)|large_intestine(4)|ovary(2)|skin(1)|stomach(1)	9						c.(142-144)gcC>gcT		minichromosome maintenance complex component 10							141	145	143					10																	13213058		2203	4300	6503	SO:0001819	synonymous_variant	55388				cell cycle checkpoint|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle	nucleoplasm	metal ion binding|protein binding	g.chr10:13213058C>T	AB042719	CCDS7095.1, CCDS7096.1	10p13	2008-08-01	2007-04-04		ENSG00000065328	ENSG00000065328			18043	protein-coding gene	gene with protein product		609357	"MCM10 minichromosome maintenance deficient 10 (S. cerevisiae)"			11095689, 17699597	Standard	NM_018518		Approved	PRO2249, CNA43, DNA43	uc001ima.3	Q7L590	OTTHUMG00000017694	ENST00000484800.2:c.144C>T	10.37:g.13213058C>T						MCM10_ENST00000484800.2_Silent_p.A48A|MCM10_ENST00000378714.3_Silent_p.A48A	p.A48A			Q7L590	MCM10_HUMAN			2	219	+			48					A8K9I6|B7ZKZ8|Q3MIR3|Q7LD55|Q96GX4|Q96NB6|Q9H0D7|Q9H3P9|Q9P177	Silent	SNP	ENST00000484800.2	37	c.144C>T	CCDS7096.1																																																																																				0.458	MCM10-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356853.1	NM_182751		19	98	0	0	0	1	0	19	98					T	13213058	C	T	13213058	2	4	279	1	0	0	0	0	0	0	0	1	9385	639	23	2		2	MCM10	10	13213058	Silent	SNP	C	TCGA-J4-A83L-01A-11D-A34U-08		13213058	122321689	20	12904											
BMS1	9790	broad.mit.edu	37	chr10	43315737	43315737	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaagccagagttcagtatgaGggttttcgacctgggatgta	10	11	14	6	1	1	2	1	1	0	1	2	5	1	3	2	2	1	4	2	2	3	5			TCGA-J4-A83L-01A-11D-A34U-08	TCGA-J4-A83L-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe51bd58-bb0e-41cd-aeee-4bf7aa9579a2	fab25240-6b31-4570-b1dc-8e37d42997d0	g.chr10:43315737G>T	ENST00000374518.5	+	16	2697	c.2634G>T	c.(2632-2634)gaG>gaT	p.E878D		NM_014753.3	NP_055568.3	Q14692	BMS1_HUMAN	BMS1 ribosome biogenesis factor	878					ribosome assembly (GO:0042255)	nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(23)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						TTCAGTATGAGGGTTTTCGAC	0.433																																						ENST00000374518.4																			0				NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(23)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						c.(2632-2634)gaG>gaT		BMS1 ribosome biogenesis factor							120	118	118					10																	43315737		2203	4300	6503	SO:0001583	missense	9790				ribosome assembly	nucleolus	ATP binding|GTP binding|GTPase activity	g.chr10:43315737G>T	BC043345	CCDS7199.1	10q11.21	2013-05-01	2013-05-01	2007-03-20	ENSG00000165733	ENSG00000165733			23505	protein-coding gene	gene with protein product		611448	"BMS1-like, ribosome assembly protein (yeast)", "BMS1 homolog, ribosome assembly protein (yeast)"	BMS1L		11779832	Standard	NM_014753		Approved	KIAA0187	uc001jaj.3	Q14692	OTTHUMG00000018020	ENST00000374518.5:c.2634G>T	10.37:g.43315737G>T	ENSP00000363642:p.Glu878Asp						p.E878D	NM_014753.3	NP_055568.3	Q14692	BMS1_HUMAN			16	2697	+			878					Q5QPT5|Q86XJ9	Missense_Mutation	SNP	ENST00000374518.5	37	c.2634G>T	CCDS7199.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.115516	0.77323	.	.	ENSG00000165733	ENST00000374518	T	0.17854	2.25	5.05	-4.55	0.03441	Ribosome biogenesis protein BMS1/TSR1, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.38506	0.1043	M	0.92122	3.275	0.47778	D	0.999516	D	0.53462	0.96	P	0.58077	0.832	T	0.53995	-0.8359	10	0.39692	T	0.17	.	13.1374	0.59417	0.6341:0.0:0.3659:0.0	.	878	Q14692	BMS1_HUMAN	D	878	ENSP00000363642:E878D	ENSP00000363642:E878D	E	+	3	2	BMS1	42635743	0.998000	0.40836	0.969000	0.41365	0.964000	0.63967	0.474000	0.22148	-0.725000	0.04901	-0.396000	0.06452	GAG		0.433	BMS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047690.2	NM_014753		6	99	1	0	3.59834e-05	1	3.81e-05	6	99					T	43315737	G	T	43315737	3	4	279	1	0	0	0	0	1	0	0	0	1472	991	35	5	2692	5	BMS1	10	43315737	Missense_Mutation	SNP	G	TCGA-J4-A83L-01A-11D-A34U-08	30102679	43315737	92219010	21	12905											
NLRP10	338322	broad.mit.edu	37	chr11	7982638	7982638	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttgtctttccagtgccagccGacccctgtagcacaactaag	9	10	8	14	1	1	0	0	0	1	0	2	1	2	0	5	0	4	2	5	0	3	4			TCGA-J4-A83L-01A-11D-A34U-08	TCGA-J4-A83L-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe51bd58-bb0e-41cd-aeee-4bf7aa9579a2	fab25240-6b31-4570-b1dc-8e37d42997d0	g.chr11:7982638G>A	ENST00000328600.2	-	2	682	c.521C>T	c.(520-522)tCg>tTg	p.S174L		NM_176821.3	NP_789791.1	Q86W26	NAL10_HUMAN	NLR family, pyrin domain containing 10	174	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				defense response to fungus (GO:0050832)|defense response to Gram-negative bacterium (GO:0050829)|dendritic cell migration (GO:0036336)|helper T cell enhancement of adaptive immune response (GO:0035397)|innate immune response (GO:0045087)|positive regulation of interleukin-6 secretion (GO:2000778)|positive regulation of interleukin-8 secretion (GO:2000484)|positive regulation of T-helper 1 type immune response (GO:0002827)|positive regulation of T-helper 17 type immune response (GO:2000318)	cytoplasm (GO:0005737)|extrinsic component of plasma membrane (GO:0019897)	ATP binding (GO:0005524)			breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		AGTGCCAGCCGACCCCTGTAG	0.547																																						ENST00000328600.2																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						c.(520-522)tCg>tTg		NLR family, pyrin domain containing 10							53	54	54					11																	7982638		2201	4296	6497	SO:0001583	missense	338322						ATP binding	g.chr11:7982638G>A	AY154465	CCDS7784.1	11p15.4	2006-12-08	2006-12-08	2006-12-08		ENSG00000182261		"Nucleotide-binding domain and leucine rich repeat containing"	21464	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 10"	609662	"NACHT, leucine rich repeat and PYD containing 10"	NALP10		12563287	Standard	NM_176821		Approved	NOD8, PAN5, Pynod, CLR11.1	uc001mfv.1	Q86W26		ENST00000328600.2:c.521C>T	11.37:g.7982638G>A	ENSP00000327763:p.Ser174Leu						p.S174L	NM_176821.3	NP_789791.1	Q86W26	NAL10_HUMAN		Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)	2	682	-			174			NACHT.		Q2M3C4|Q6JGT0	Missense_Mutation	SNP	ENST00000328600.2	37	c.521C>T	CCDS7784.1	.	.	.	.	.	.	.	.	.	.	G	11.60	1.686998	0.29962	.	.	ENSG00000182261	ENST00000328600	T	0.80304	-1.36	5.25	-0.519	0.11939	NACHT nucleoside triphosphatase (1);	1.130040	0.06837	N	0.794968	T	0.67878	0.2940	N	0.24115	0.695	0.09310	N	1	P	0.42039	0.769	B	0.43386	0.418	T	0.57825	-0.7744	10	0.36615	T	0.2	.	3.1186	0.06383	0.0879:0.1455:0.3204:0.4462	.	174	Q86W26	NAL10_HUMAN	L	174	ENSP00000327763:S174L	ENSP00000327763:S174L	S	-	2	0	NLRP10	7939214	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	0.126000	0.15769	0.017000	0.15025	0.655000	0.94253	TCG		0.547	NLRP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385705.1	NM_176821		4	41	0	0	0	1	0	4	41					A	7982638	G	A	7982638	3	1	279	1	0	0	0	0	1	0	0	0	10472	1059	37	2	1450	2	NLRP10	11	7982638	Missense_Mutation	SNP	G	TCGA-J4-A83L-01A-11D-A34U-08		7982638	127023878	22	12906											
MRVI1	10335	broad.mit.edu	37	chr11	10649268	10649268	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aaagctcaaactcacaggctCgccagggtgaggtgaagaga	14	5	13	9	1	2	3	2	2	0	1	3	4	2	3	1	3	2	2	1	3	3	0			TCGA-J4-A83L-01A-11D-A34U-08	TCGA-J4-A83L-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe51bd58-bb0e-41cd-aeee-4bf7aa9579a2	fab25240-6b31-4570-b1dc-8e37d42997d0	g.chr11:10649268C>T	ENST00000436272.1	-	7	742	c.664G>A	c.(664-666)Gag>Aag	p.E222K	MRVI1_ENST00000552103.1_Missense_Mutation_p.E158K|MRVI1_ENST00000534266.2_5'UTR|MRVI1_ENST00000532037.1_5'Flank|MRVI1_ENST00000558540.1_5'UTR|MRVI1_ENST00000423302.2_Missense_Mutation_p.E249K|MRVI1_ENST00000424001.1_5'UTR|MRVI1_ENST00000527509.2_Missense_Mutation_p.E158K|MRVI1_ENST00000545852.1_5'UTR|MRVI1_ENST00000421747.1_Missense_Mutation_p.E240K|MRVI1_ENST00000531107.1_Missense_Mutation_p.E241K|MRVI1_ENST00000541483.1_Missense_Mutation_p.E249K|MRVI1_ENST00000547195.1_Missense_Mutation_p.E158K			Q9Y6F6	MRVI1_HUMAN	murine retrovirus integration site 1 homolog	222					blood coagulation (GO:0007596)|cGMP-mediated signaling (GO:0019934)|relaxation of vascular smooth muscle (GO:0060087)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|platelet dense tubular network membrane (GO:0031095)|sarcoplasmic reticulum (GO:0016529)				central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(2)	22				all cancers(16;2.68e-07)|Epithelial(150;3.04e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0723)		CTCACAGGCTCGCCAGGGTGA	0.557																																						ENST00000547195.1																			0				central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(2)	22						c.(472-474)Gag>Aag		murine retrovirus integration site 1 homolog							89	98	95					11																	10649268		2018	4171	6189	SO:0001583	missense	10335				platelet activation	endoplasmic reticulum membrane|integral to membrane|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum		g.chr11:10649268C>T	AF081249	CCDS44538.1, CCDS44539.1, CCDS44540.1, CCDS44538.2, CCDS55745.1, CCDS55746.1	11p15.4	2014-09-11			ENSG00000072952	ENSG00000072952			7237	protein-coding gene	gene with protein product	"inositol 1,4,5-triphosphate-associated cGMP kinase substrate", "IP3R-associated cGMP kinase substrate"	604673				10321731	Standard	NM_001098579		Approved	JAW1L, IRAG	uc010rcb.1	Q9Y6F6	OTTHUMG00000165773	ENST00000436272.1:c.664G>A	11.37:g.10649268C>T	ENSP00000412229:p.Glu222Lys					MRVI1_ENST00000421747.1_Missense_Mutation_p.E240K|MRVI1_ENST00000552103.1_Missense_Mutation_p.E158K|MRVI1_ENST00000527509.2_Missense_Mutation_p.E158K|MRVI1_ENST00000424001.1_5'UTR|MRVI1_ENST00000423302.2_Missense_Mutation_p.E249K|MRVI1_ENST00000541483.1_Missense_Mutation_p.E249K|MRVI1_ENST00000436272.1_Missense_Mutation_p.E222K|MRVI1_ENST00000558540.1_5'UTR|MRVI1_ENST00000545852.1_5'UTR|MRVI1_ENST00000534266.2_5'UTR|MRVI1_ENST00000531107.1_Missense_Mutation_p.E241K	p.E158K	NM_001100163.2|NM_001206881.1	NP_001093633.1|NP_001193810.1	Q9Y6F6	MRVI1_HUMAN		all cancers(16;2.68e-07)|Epithelial(150;3.04e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0723)	7	972	-			222			Interaction with PRKG1 (By similarity).		B7Z3T4|B7Z6I2|B7Z9A3|E9PQY6|F5H6A1|J3KQZ7|Q17S00|Q9UNY1	Missense_Mutation	SNP	ENST00000436272.1	37	c.472G>A		.	.	.	.	.	.	.	.	.	.	C	13.09	2.133428	0.37630	.	.	ENSG00000072952	ENST00000421747;ENST00000308763;ENST00000436272;ENST00000547195;ENST00000552103;ENST00000423302;ENST00000541483;ENST00000531107;ENST00000527509	T;T;T;T;T;T;T;T	0.15139	3.1;3.12;2.52;2.52;2.92;2.45;3.1;2.52	4.28	1.43	0.22495	.	0.789898	0.12154	N	0.494613	T	0.11324	0.0276	L	0.29908	0.895	0.80722	D	1	B;B;B;B	0.12630	0.006;0.0;0.0;0.0	B;B;B;B	0.06405	0.002;0.0;0.0;0.001	T	0.10497	-1.0627	10	0.37606	T	0.19	-4.5306	6.2848	0.21027	0.0:0.6907:0.0:0.3093	.	249;222;241;240	F5H6A1;Q9Y6F6;E9PQY6;Q9Y6F6-4	.;MRVI1_HUMAN;.;.	K	240;223;222;158;158;249;249;241;158	ENSP00000414598:E240K;ENSP00000412229:E222K;ENSP00000448278:E158K;ENSP00000446764:E158K;ENSP00000412130:E249K;ENSP00000437784:E249K;ENSP00000432436:E241K;ENSP00000432067:E158K	ENSP00000307885:E223K	E	-	1	0	MRVI1	10605844	0.984000	0.35163	0.983000	0.44433	0.974000	0.67602	0.352000	0.20113	0.361000	0.24292	0.655000	0.94253	GAG		0.557	MRVI1-203	KNOWN	basic	protein_coding	protein_coding		NM_001098579		16	50	0	0	0	1	0	16	50					T	10649268	C	T	10649268	3	4	279	1	0	0	0	0	1	0	0	0	9853	893	31	2	2049	2	MRVI1	11	10649268	Missense_Mutation	SNP	C	TCGA-J4-A83L-01A-11D-A34U-08	2666630	10649268	124357248	23	12907											
SIK3	23387	broad.mit.edu	37	chr11	116827691	116827691	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	agcctgatgatatgggggtgGcaaagcatcttcataatttg	11	12	12	6	0	2	2	1	2	1	0	2	2	2	2	1	3	2	2	1	3	3	4			TCGA-J4-A83L-01A-11D-A34U-08	TCGA-J4-A83L-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe51bd58-bb0e-41cd-aeee-4bf7aa9579a2	fab25240-6b31-4570-b1dc-8e37d42997d0	g.chr11:116827691G>A	ENST00000292055.4	-	2	224	c.189C>T	c.(187-189)tgC>tgT	p.C63C	SIK3_ENST00000375288.1_5'UTR|SIK3_ENST00000375300.1_Silent_p.C121C|SIK3_ENST00000542607.1_Silent_p.C63C|SIK3_ENST00000446921.2_Silent_p.C121C|SIK3_ENST00000434315.2_5'UTR	NM_025164.3	NP_079440.3	Q9Y2K2	SIK3_HUMAN	SIK family kinase 3	63	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	57						TATGGGGGTGGCAAAGCATCT	0.408																																						ENST00000375300.1																			0				breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	57						c.(361-363)tgC>tgT		SIK family kinase 3							230	247	241					11																	116827691		2201	4296	6497	SO:0001819	synonymous_variant	23387					cytoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity	g.chr11:116827691G>A	AB023216	CCDS8379.1, CCDS60974.1, CCDS8379.2	11q23.3	2010-02-17			ENSG00000160584	ENSG00000160584			29165	protein-coding gene	gene with protein product		614776				10231032, 8889548	Standard	NM_025164		Approved	FLJ12240, L19, KIAA0999, QSK	uc001ppy.3	Q9Y2K2	OTTHUMG00000066628	ENST00000292055.4:c.189C>T	11.37:g.116827691G>A						SIK3_ENST00000434315.2_5'UTR|SIK3_ENST00000292055.4_Silent_p.C63C|SIK3_ENST00000375288.1_5'UTR|SIK3_ENST00000542607.1_Silent_p.C63C|SIK3_ENST00000446921.2_Silent_p.C121C	p.C121C			Q9Y2K2	SIK3_HUMAN			2	368	-			63			Protein kinase.		A1A5A8|Q59FY2|Q5M9N1|Q6P3R6|Q8IYM8|Q9HA50	Silent	SNP	ENST00000292055.4	37	c.363C>T	CCDS8379.1	.	.	.	.	.	.	.	.	.	.	G	10.26	1.301120	0.23650	.	.	ENSG00000160584	ENST00000445177;ENST00000446921;ENST00000413553	.	.	.	6.17	4.01	0.46588	.	.	.	.	.	T	0.62660	0.2446	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.61554	-0.7039	4	.	.	.	.	11.5865	0.50920	0.2071:0.0:0.7929:0.0	.	.	.	.	S	115;86;24	.	.	P	-	1	0	SIK3	116332901	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.560000	0.45896	1.630000	0.50440	0.655000	0.94253	CCA		0.408	SIK3-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		NM_025164		5	259	0	0	0	1	0	5	259					A	116827691	G	A	116827691	2	1	279	1	0	0	0	0	0	0	0	1	14319	1195	42	3		3	SIK3	11	116827691	Silent	SNP	G	TCGA-J4-A83L-01A-11D-A34U-08	106178423	116827691	18178825	24	12908											
RNF10	9921	broad.mit.edu	37	chr12	120990388	120990388	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aaccacttgttgaatttcacTtttgaaccccgtggccagac	10	12	7	12	1	1	3	1	2	0	1	1	3	1	3	4	1	2	1	4	1	3	5			TCGA-J4-A83L-01A-11D-A34U-08	TCGA-J4-A83L-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe51bd58-bb0e-41cd-aeee-4bf7aa9579a2	fab25240-6b31-4570-b1dc-8e37d42997d0	g.chr12:120990388T>G	ENST00000325954.4	+	3	902	c.441T>G	c.(439-441)acT>acG	p.T147T	RNF10_ENST00000413266.2_Silent_p.T147T	NM_014868.4	NP_055683.3	Q8N5U6	RNF10_HUMAN	ring finger protein 10	147	Interaction with MEOX2.				negative regulation of Schwann cell proliferation (GO:0010626)|positive regulation of myelination (GO:0031643)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autoubiquitination (GO:0051865)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	transcription regulatory region DNA binding (GO:0044212)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)	27	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TGAATTTCACTTTTGAACCCC	0.498																																						ENST00000325954.4																			0				breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)	27						c.(439-441)acT>acG		ring finger protein 10							92	86	88					12																	120990388		2203	4300	6503	SO:0001819	synonymous_variant	9921				negative regulation of Schwann cell proliferation|positive regulation of myelination|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	protein binding|transcription regulatory region DNA binding|zinc ion binding	g.chr12:120990388T>G	AB027196	CCDS9201.1	12q23-q24	2013-01-09			ENSG00000022840	ENSG00000022840		"RING-type (C3HC4) zinc fingers"	10055	protein-coding gene	gene with protein product							Standard	NM_014868		Approved	KIAA0262, RIE2	uc001typ.4	Q8N5U6	OTTHUMG00000168999	ENST00000325954.4:c.441T>G	12.37:g.120990388T>G						RNF10_ENST00000413266.2_Silent_p.T147T	p.T147T	NM_014868.4	NP_055683.3	Q8N5U6	RNF10_HUMAN			3	902	+	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		147			Interaction with MEOX2.		Q92550|Q9NPP8|Q9ULW4	Silent	SNP	ENST00000325954.4	37	c.441T>G	CCDS9201.1																																																																																				0.498	RNF10-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000401898.4			5	52	0	0	0	1	0	5	52					G	120990388	T	G	120990388	2	3	279	1	0	0	0	0	0	0	0	1	13422	1596	56	5		5	RNF10	12	120990388	Silent	SNP	T	TCGA-J4-A83L-01A-11D-A34U-08		120990388	12861507	25	12909											
MTUS2	23281	broad.mit.edu	37	chr13	29599806	29599806	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	caggagagttgaacaggaggGaaaggcagcccaggaagggt	14	3	18	6	0	0	2	0	1	0	1	0	6	0	5	1	6	2	2	1	6	3	1			TCGA-J4-A83L-01A-11D-A34U-08	TCGA-J4-A83L-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe51bd58-bb0e-41cd-aeee-4bf7aa9579a2	fab25240-6b31-4570-b1dc-8e37d42997d0	g.chr13:29599806G>A	ENST00000431530.3	+	1	1059	c.1001G>A	c.(1000-1002)gGa>gAa	p.G334E		NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN	microtubule associated tumor suppressor candidate 2	324						cytoplasm (GO:0005737)|microtubule (GO:0005874)	microtubule binding (GO:0008017)|protein homodimerization activity (GO:0042803)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						GAACAGGAGGGAAAGGCAGCC	0.532																																						ENST00000431530.3																			0				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						c.(1000-1002)gGa>gAa		microtubule associated tumor suppressor candidate 2							49	51	50					13																	29599806		1962	4143	6105	SO:0001583	missense	23281					cytoplasm|microtubule	microtubule binding|protein homodimerization activity	g.chr13:29599806G>A	AB018317	CCDS41874.1, CCDS45022.1	13q12.3	2013-01-17	2009-10-20	2009-10-20	ENSG00000132938	ENSG00000132938			20595	protein-coding gene	gene with protein product	"+TIP of 150 kDa", "cardiac zipper protein"		"KIAA0774"	KIAA0774		19543227	Standard	NM_001033602		Approved	TIP150, CAZIP, ICIS	uc001usl.4	Q5JR59	OTTHUMG00000016657	ENST00000431530.3:c.1001G>A	13.37:g.29599806G>A	ENSP00000392057:p.Gly334Glu						p.G334E	NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN			1	1059	+			324					A7E292|B4DF81|O94872|Q08E97|Q5JQR3|Q8N5E2	Missense_Mutation	SNP	ENST00000431530.3	37	c.1001G>A	CCDS45022.1	.	.	.	.	.	.	.	.	.	.	g	10.06	1.246543	0.22796	.	.	ENSG00000132938	ENST00000431530	T	0.11063	2.81	5.47	-0.0459	0.13849	.	2.907410	0.01056	N	0.004543	T	0.09774	0.0240	L	0.44542	1.39	0.09310	N	1	B	0.23442	0.085	B	0.21917	0.037	T	0.29212	-1.0019	9	.	.	.	.	1.7737	0.03017	0.1382:0.1642:0.1362:0.5614	.	324	Q5JR59	MTUS2_HUMAN	E	334	ENSP00000392057:G334E	.	G	+	2	0	MTUS2	28497806	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.321000	0.19558	0.382000	0.24878	-0.262000	0.10625	GGA		0.532	MTUS2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000044336.3	XM_166270		6	30	0	0	0	1	0	6	30					A	29599806	G	A	29599806	3	1	279	1	0	0	0	0	1	0	0	0	9966	1174	41	3	1003	3	MTUS2	13	29599806	Missense_Mutation	SNP	G	TCGA-J4-A83L-01A-11D-A34U-08		29599806	85570072	26	12910											
TBPL2	387332	broad.mit.edu	37	chr14	55903530	55903530	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcagaattttcttcagtttcGtgtttgctaatgacaggctg	8	17	9	7	1	3	2	2	1	1	1	4	2	3	2	0	1	1	4	0	1	2	6	rs369692725		TCGA-J4-A83L-01A-11D-A34U-08	TCGA-J4-A83L-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe51bd58-bb0e-41cd-aeee-4bf7aa9579a2	fab25240-6b31-4570-b1dc-8e37d42997d0	g.chr14:55903530G>A	ENST00000247219.5	-	2	427	c.357C>T	c.(355-357)caC>caT	p.H119H		NM_199047.2	NP_950248.1			TATA box binding protein like 2											endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	8						CTTCAGTTTCGTGTTTGCTAA	0.438																																						ENST00000247219.5																			0				endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	8						c.(355-357)caC>caT		TATA box binding protein like 2		G		2,4404	4.2+/-10.8	0,2,2201	194	163	174		357	-3.1	0	14		174	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	TBPL2	NM_199047.2		0,3,6500	AA,AG,GG		0.0116,0.0454,0.0231		119/376	55903530	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	387332				multicellular organismal development|transcription initiation from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding	g.chr14:55903530G>A	AY457923	CCDS9724.1	14q22.2	2004-06-03			ENSG00000182521	ENSG00000182521			19841	protein-coding gene	gene with protein product		608964				14634207	Standard	NM_199047		Approved	TRF3, TBP2	uc001xby.3	Q6SJ96	OTTHUMG00000140313	ENST00000247219.5:c.357C>T	14.37:g.55903530G>A							p.H119H	NM_199047.2	NP_950248.1	Q6SJ96	TBPL2_HUMAN			2	427	-			119						Silent	SNP	ENST00000247219.5	37	c.357C>T	CCDS9724.1																																																																																				0.438	TBPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276916.1	NM_199047		9	44	0	0	0	1	0	9	44					A	55903530	G	A	55903530	2	1	279	1	0	0	0	0	0	0	0	1	15643	1136	40	1		1	TBPL2	14	55903530	Silent	SNP	G	TCGA-J4-A83L-01A-11D-A34U-08		55903530	51446010	27	12911											
SECISBP2L	9728	broad.mit.edu	37	chr15	49288768	49288768	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctcctcagtgagttctactaAtttattaaacaggctctgaa	12	14	6	9	0	3	2	1	2	2	0	4	2	4	2	1	1	2	2	1	1	6	6			TCGA-J4-A83L-01A-11D-A34U-08	TCGA-J4-A83L-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe51bd58-bb0e-41cd-aeee-4bf7aa9579a2	fab25240-6b31-4570-b1dc-8e37d42997d0	g.chr15:49288768A>C	ENST00000559471.1	-	17	2682	c.2419T>G	c.(2419-2421)Tta>Gta	p.L807V	Y_RNA_ENST00000384377.1_RNA|SECISBP2L_ENST00000261847.3_Missense_Mutation_p.L762V	NM_001193489.1	NP_001180418.1	Q93073	SBP2L_HUMAN	SECIS binding protein 2-like	807							poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(5)|kidney(8)|large_intestine(12)|lung(11)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	46						AGTTCTACTAATTTATTAAAC	0.343																																						ENST00000559471.1																			0				breast(1)|endometrium(5)|kidney(8)|large_intestine(12)|lung(11)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	46						c.(2419-2421)Tta>Gta		SECIS binding protein 2-like							135	138	137					15																	49288768		2197	4295	6492	SO:0001583	missense	9728							g.chr15:49288768A>C	BC033001	CCDS32234.1, CCDS53942.1	15q21.1	2014-02-12				ENSG00000138593			28997	protein-coding gene	gene with protein product		615756					Standard	NM_001193489		Approved	KIAA0256	uc001zxe.2	Q93073		ENST00000559471.1:c.2419T>G	15.37:g.49288768A>C	ENSP00000453854:p.Leu807Val					SECISBP2L_ENST00000261847.3_Missense_Mutation_p.L762V	p.L807V	NM_001193489.1	NP_001180418.1	Q93073	SBP2L_HUMAN			17	2682	-			807					Q8N767	Missense_Mutation	SNP	ENST00000559471.1	37	c.2419T>G	CCDS53942.1	.	.	.	.	.	.	.	.	.	.	A	17.30	3.354667	0.61293	.	.	ENSG00000138593	ENST00000261847;ENST00000380927	D	0.92752	-3.1	4.94	2.67	0.31697	.	0.000000	0.64402	D	0.000003	D	0.91700	0.7376	L	0.29908	0.895	0.44477	D	0.997414	D;D	0.89917	0.999;1.0	D;D	0.83275	0.968;0.996	D	0.89298	0.3624	10	0.52906	T	0.07	.	7.9605	0.30068	0.7408:0.0:0.2592:0.0	.	807;762	Q93073;Q93073-2	SBP2L_HUMAN;.	V	762;807	ENSP00000261847:L762V	ENSP00000261847:L762V	L	-	1	2	SECISBP2L	47076060	1.000000	0.71417	0.998000	0.56505	0.993000	0.82548	2.853000	0.48317	0.405000	0.25532	0.528000	0.53228	TTA		0.343	SECISBP2L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417277.1	NM_014701		9	118	0	0	0	1	0	9	118					C	49288768	A	C	49288768	3	2	279	1	0	0	0	0	1	0	0	0	14007	98	4	5	894	5	SECISBP2L	15	49288768	Missense_Mutation	SNP	A	TCGA-J4-A83L-01A-11D-A34U-08		49288768	53242624	28	12912											
DENND4A	10260	broad.mit.edu	37	chr15	66030066	66030066	+	Frame_Shift_Del	DEL	G	G	-																															tctcaattggaaggacatgaGgcccagagatggaataacga																										TCGA-J4-A83L-01A-11D-A34U-08	TCGA-J4-A83L-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe51bd58-bb0e-41cd-aeee-4bf7aa9579a2	fab25240-6b31-4570-b1dc-8e37d42997d0	g.chr15:66030066delG	ENST00000431932.2	-	7	1227	c.1019delC	c.(1018-1020)cctfs	p.P340fs	DENND4A_ENST00000443035.3_Frame_Shift_Del_p.P340fs	NM_005848.3	NP_005839.3	Q7Z401	MYCPP_HUMAN	DENN/MADD domain containing 4A	340	DENN. {ECO:0000255|PROSITE- ProRule:PRU00304}.				positive regulation of Rab GTPase activity (GO:0032851)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(11)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	51						AAGGACATGAGGCCCAGAGAT	0.378																																						ENST00000443035.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(11)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	51						c.(1018-1020)ctfs		DENN/MADD domain containing 4A							67	61	63					15																	66030066		1869	4105	5974	SO:0001589	frameshift_variant	10260				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	g.chr15:66030066delG	AF534403	CCDS45285.1, CCDS53949.1	15q22.31	2012-10-03	2006-01-27	2006-01-27				"DENN/MADD domain containing"	24321	protein-coding gene	gene with protein product		600382	"c-myc promoter binding protein"	MYCPBP		8056341, 12906859	Standard	NM_005848		Approved	IRLB	uc002api.3	Q7Z401		ENST00000431932.2:c.1019delC	15.37:g.66030066delG	ENSP00000396830:p.Pro340fs					DENND4A_ENST00000431932.2_Frame_Shift_Del_p.P340fs	p.P340fs	NM_001144823.1	NP_001138295.1	Q7Z401	MYCPP_HUMAN			7	1234	-			340			DENN.		E7EPL3|Q14655|Q86T77|Q8IVX2|Q8NB93	Frame_Shift_Del	DEL	ENST00000431932.2	37	c.1019delC	CCDS45285.1																																																																																				0.378	DENND4A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419611.1	NM_005848		2	4						2	4	---	---	---	---	-	66030066	G	-	66030066	7	5	279	1	0	1	0	1	0	0	0	0	4433	1000	35	0	4809	0	DENND4A	15	66030066	Frame_Shift_Del	DEL	G	TCGA-J4-A83L-01A-11D-A34U-08	16741298	66030066	36501326	29	12913											
NCOR1	9611	broad.mit.edu	37	chr17	15989710	15989710	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgagttgtcggaagccgaacGccttcagggagattagttat	10	10	13	8	4	1	1	1	0	0	1	2	5	1	2	2	2	2	2	2	2	4	4	rs546064182		TCGA-J4-A83L-01A-11D-A34U-08	TCGA-J4-A83L-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe51bd58-bb0e-41cd-aeee-4bf7aa9579a2	fab25240-6b31-4570-b1dc-8e37d42997d0	g.chr17:15989710G>A	ENST00000268712.3	-	23	3320	c.3063C>T	c.(3061-3063)ggC>ggT	p.G1021G	NCOR1_ENST00000395851.1_Silent_p.G1037G	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN	nuclear receptor corepressor 1	1021	Interaction with ETO.				CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation (GO:0002361)|cellular lipid metabolic process (GO:0044255)|cholesterol homeostasis (GO:0042632)|chromatin modification (GO:0016568)|circadian regulation of gene expression (GO:0032922)|definitive erythrocyte differentiation (GO:0060318)|gene expression (GO:0010467)|negative regulation of JNK cascade (GO:0046329)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of histone deacetylation (GO:0031065)|regulation of fatty acid transport (GO:2000191)|regulation of glycolytic process by negative regulation of transcription from RNA polymerase II promoter (GO:0072362)|regulation of lipid transport by negative regulation of transcription from RNA polymerase II promoter (GO:0072368)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|spindle assembly (GO:0051225)|thalamus development (GO:0021794)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|histone deacetylase binding (GO:0042826)|histone deacetylase regulator activity (GO:0035033)|nuclear hormone receptor binding (GO:0035257)|RNA polymerase II activating transcription factor binding (GO:0001102)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		GAAGCCGAACGCCTTCAGGGA	0.448													G|||	1	0.000199681	8e-04	0	5008	,	,		17809	0		0	False		,,,				2504	0					ENST00000268712.3																			0				NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107						c.(3061-3063)ggC>ggT		nuclear receptor corepressor 1							93	93	93					17																	15989710		2203	4300	6503	SO:0001819	synonymous_variant	9611				cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter	nuclear chromatin|spindle microtubule|transcriptional repressor complex	histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding	g.chr17:15989710G>A	AF044209	CCDS11175.1, CCDS54094.1, CCDS54095.1	17p11.2	2014-06-12	2010-06-10		ENSG00000141027	ENSG00000141027			7672	protein-coding gene	gene with protein product	"thyroid hormone- and retinoic acid receptor-associated corepressor 1", "protein phosphatase 1, regulatory subunit 109"	600849	"nuclear receptor co-repressor 1"			7566114, 9724795	Standard	NM_006311		Approved	N-CoR, hCIT529I10, TRAC1, hN-CoR, KIAA1047, MGC104216, PPP1R109	uc002gpo.3	O75376	OTTHUMG00000059309	ENST00000268712.3:c.3063C>T	17.37:g.15989710G>A						NCOR1_ENST00000395851.1_Silent_p.G1037G	p.G1021G	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.101)	23	3320	-			1021			Interaction with ETO.		B3DLF8|E9PGV6|Q86YY0|Q9UPV5|Q9UQ18	Silent	SNP	ENST00000268712.3	37	c.3063C>T	CCDS11175.1																																																																																				0.448	NCOR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131751.5	NM_006311		21	40	0	0	0	1	0	21	40					A	15989710	G	A	15989710	2	1	279	1	0	0	0	0	0	0	0	1	10235	1074	38	1		1	NCOR1	17	15989710	Silent	SNP	G	TCGA-J4-A83L-01A-11D-A34U-08		15989710	65205500	30	12914											
CANT1	124583	broad.mit.edu	37	chr17	76993228	76993228	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tccatgcctctccccttctcCgccaggtgggactccaggac	5	9	9	18	1	2	0	0	0	2	0	6	2	4	2	7	3	1	0	7	3	0	1	rs149367726		TCGA-J4-A83L-01A-11D-A34U-08	TCGA-J4-A83L-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe51bd58-bb0e-41cd-aeee-4bf7aa9579a2	fab25240-6b31-4570-b1dc-8e37d42997d0	g.chr17:76993228C>T	ENST00000302345.2	-	2	971	c.477G>A	c.(475-477)gcG>gcA	p.A159A	CANT1_ENST00000392446.5_Silent_p.A159A|CANT1_ENST00000591732.1_5'Flank|CANT1_ENST00000591773.1_Silent_p.A159A	NM_001159773.1|NM_138793.3	NP_001153245.1|NP_620148.1	Q8WVQ1	CANT1_HUMAN	calcium activated nucleotidase 1	159					positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|proteoglycan biosynthetic process (GO:0030166)|signal transduction (GO:0007165)	endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|signal transducer activity (GO:0004871)|uridine-diphosphatase activity (GO:0045134)		CANT1/ETV4(3)	cervix(1)|endometrium(1)|large_intestine(2)|lung(10)|prostate(1)|skin(1)	16			BRCA - Breast invasive adenocarcinoma(99;0.0362)|OV - Ovarian serous cystadenocarcinoma(97;0.139)			TCCCCTTCTCCGCCAGGTGGG	0.567			T	ETV4	prostate																																	ENST00000302345.2				Dom	yes		17	17q25	124583	T	calcium activated nucleotidase 1			E	ETV4		prostate	CANT1/ETV4(3)	0				cervix(1)|endometrium(1)|large_intestine(2)|lung(10)|prostate(1)|skin(1)	16						c.(475-477)gcG>gcA		calcium activated nucleotidase 1		C	,,	1,4405	2.1+/-5.4	0,1,2202	120	121	121		477,477,477	-10.5	0.2	17	dbSNP_134	121	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous	CANT1	NM_001159772.1,NM_001159773.1,NM_138793.3	,,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,,	159/402,159/402,159/402	76993228	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	124583				positive regulation of I-kappaB kinase/NF-kappaB cascade	endoplasmic reticulum membrane|Golgi cisterna membrane|integral to membrane	calcium ion binding|nucleoside-diphosphatase activity|signal transducer activity	g.chr17:76993228C>T	AJ312208	CCDS11760.1	17q25.3	2008-02-05	2004-10-12	2004-10-15		ENSG00000171302			19721	protein-coding gene	gene with protein product	"Soluble Ca-Activated Nucleotidase, isozyme 1"	613165				12167635	Standard	NM_138793		Approved	SHAPY, SCAN-1	uc002jwk.3	Q8WVQ1		ENST00000302345.2:c.477G>A	17.37:g.76993228C>T						CANT1_ENST00000392446.5_Silent_p.A159A|CANT1_ENST00000591773.1_Silent_p.A159A	p.A159A	NM_001159773.1|NM_138793.3	NP_001153245.1|NP_620148.1	Q8WVQ1	CANT1_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0362)|OV - Ovarian serous cystadenocarcinoma(97;0.139)		2	971	-			159					B4DJ54|Q7Z2J7|Q8NG05|Q8NHP0|Q9BSD5	Silent	SNP	ENST00000302345.2	37	c.477G>A	CCDS11760.1																																																																																				0.567	CANT1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437723.2	NM_138793		14	155	0	0	0	1	0	14	155					T	76993228	C	T	76993228	2	4	279	1	0	0	0	0	0	0	0	1	2617	639	23	2		2	CANT1	17	76993228	Silent	SNP	C	TCGA-J4-A83L-01A-11D-A34U-08	61003518	76993228	4201982	31	12915											
PTPRS	5802	broad.mit.edu	37	chr19	5223271	5223271	+	Frame_Shift_Del	DEL	G	G	-																															cgtgccagcaggctgccctcGggggtctgctgcaccgacag																										TCGA-J4-A83L-01A-11D-A34U-08	TCGA-J4-A83L-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe51bd58-bb0e-41cd-aeee-4bf7aa9579a2	fab25240-6b31-4570-b1dc-8e37d42997d0	g.chr19:5223271delG	ENST00000587303.1	-	17	2631	c.2532delC	c.(2530-2532)cccfs	p.P844fs	PTPRS_ENST00000348075.2_Frame_Shift_Del_p.P822fs|PTPRS_ENST00000262963.6_Frame_Shift_Del_p.P840fs|PTPRS_ENST00000588012.1_Frame_Shift_Del_p.P822fs|PTPRS_ENST00000372412.4_Frame_Shift_Del_p.P845fs|PTPRS_ENST00000588552.1_Intron|PTPRS_ENST00000353284.2_Intron|PTPRS_ENST00000357368.4_Frame_Shift_Del_p.P844fs|PTPRS_ENST00000592099.1_Intron			Q13332	PTPRS_HUMAN	protein tyrosine phosphatase, receptor type, S	844	Fibronectin type-III 6. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|corpus callosum development (GO:0022038)|extracellular matrix organization (GO:0030198)|hippocampus development (GO:0021766)|peptidyl-tyrosine dephosphorylation (GO:0035335)|spinal cord development (GO:0021510)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)	61				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)	Alendronate(DB00630)|Etidronic acid(DB01077)	GGCTGCCCTCGGGGGTCTGCT	0.726																																						ENST00000372412.4																			0				NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)	61						c.(2533-2535)ccfs		protein tyrosine phosphatase, receptor type, S							5	6	6					19																	5223271		2115	4123	6238	SO:0001589	frameshift_variant	5802				cell adhesion	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr19:5223271delG	U35234	CCDS12139.1, CCDS12140.1, CCDS45930.1, CCDS74265.1	19p13.3	2013-02-11				ENSG00000105426		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	9681	protein-coding gene	gene with protein product		601576				8954782, 8524829	Standard	NM_002850		Approved		uc002mbv.3	Q13332		ENST00000587303.1:c.2532delC	19.37:g.5223271delG	ENSP00000467537:p.Pro844fs					PTPRS_ENST00000262963.6_Frame_Shift_Del_p.P840fs|PTPRS_ENST00000588552.1_Intron|PTPRS_ENST00000587303.1_Frame_Shift_Del_p.P844fs|PTPRS_ENST00000348075.2_Frame_Shift_Del_p.P822fs|PTPRS_ENST00000353284.2_Intron|PTPRS_ENST00000588012.1_Frame_Shift_Del_p.P822fs|PTPRS_ENST00000592099.1_Intron|PTPRS_ENST00000357368.4_Frame_Shift_Del_p.P844fs	p.P845fs			Q13332	PTPRS_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)	18	2768	-			844			Fibronectin type-III 6.		O75255|O75870|Q15718|Q16341|Q2M3R7	Frame_Shift_Del	DEL	ENST00000587303.1	37	c.2535delC	CCDS45930.1																																																																																				0.726	PTPRS-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000450762.2			2	4						2	4	---	---	---	---	-	5223271	G	-	5223271	7	5	279	1	0	1	0	1	0	0	0	0	12811	1103	39	0	3398	0	PTPRS	19	5223271	Frame_Shift_Del	DEL	G	TCGA-J4-A83L-01A-11D-A34U-08		5223271	53905712	32	12916											
CCDC8	83987	broad.mit.edu	37	chr19	46914722	46914722	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cttcagcttcctggatacctGgggcccctgccctctgatta	5	12	9	15	0	2	1	1	1	1	0	3	2	3	2	5	3	3	1	5	3	2	4			TCGA-J4-A83L-01A-11D-A34U-08	TCGA-J4-A83L-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe51bd58-bb0e-41cd-aeee-4bf7aa9579a2	fab25240-6b31-4570-b1dc-8e37d42997d0	g.chr19:46914722G>A	ENST00000307522.3	-	1	2119	c.1346C>T	c.(1345-1347)cCa>cTa	p.P449L		NM_032040.4	NP_114429.2	Q9H0W5	CCDC8_HUMAN	coiled-coil domain containing 8	449					microtubule cytoskeleton organization (GO:0000226)|negative regulation of phosphatase activity (GO:0010923)|regulation of mitosis (GO:0007088)	3M complex (GO:1990393)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(262;4.66e-05)|all cancers(93;0.000582)|Epithelial(262;0.00428)|GBM - Glioblastoma multiforme(486;0.0421)		CTGGATACCTGGGGCCCCTGC	0.627																																						ENST00000307522.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	23						c.(1345-1347)cCa>cTa		coiled-coil domain containing 8							56	53	54					19																	46914722		2203	4300	6503	SO:0001583	missense	83987					plasma membrane		g.chr19:46914722G>A	BC025243	CCDS12685.1	19q13.33	2012-04-17			ENSG00000169515	ENSG00000169515		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	25367	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 20"	614145				11230166	Standard	NM_032040		Approved	DKFZp564K0322, 3M3, PPP1R20	uc002pep.3	Q9H0W5	OTTHUMG00000162348	ENST00000307522.3:c.1346C>T	19.37:g.46914722G>A	ENSP00000303158:p.Pro449Leu						p.P449L	NM_032040.4	NP_114429.2	Q9H0W5	CCDC8_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;4.66e-05)|all cancers(93;0.000582)|Epithelial(262;0.00428)|GBM - Glioblastoma multiforme(486;0.0421)	1	2119	-			449					Q8TB26	Missense_Mutation	SNP	ENST00000307522.3	37	c.1346C>T	CCDS12685.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	10.54|10.54	1.379108|1.379108	0.24944|0.24944	.|.	.|.	ENSG00000169515|ENSG00000169515	ENST00000307522|ENST00000540252	T|.	0.11169|.	2.8|.	2.56|2.56	0.183|0.183	0.15082|0.15082	.|.	2.636380|.	0.01805|.	N|.	0.033142|.	T|.	0.38719|.	0.1051|.	L|L	0.50333|0.50333	1.59|1.59	0.09310|0.09310	N|N	1|1	B|.	0.09022|.	0.002|.	B|.	0.08055|.	0.003|.	T|.	0.33394|.	-0.9870|.	10|.	0.38643|0.41790	T|T	0.18|0.15	7.5679|7.5679	6.0203|6.0203	0.19625|0.19625	0.323:0.0:0.677:0.0|0.323:0.0:0.677:0.0	.|.	449|.	Q9H0W5|.	CCDC8_HUMAN|.	L|X	449|296	ENSP00000303158:P449L|.	ENSP00000303158:P449L|ENSP00000441180:Q296X	P|Q	-|-	2|1	0|0	CCDC8|CCDC8	51606562|51606562	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.009000|0.009000	0.06853|0.06853	-0.001000|-0.001000	0.12947|0.12947	0.109000|0.109000	0.17891|0.17891	-0.367000|-0.367000	0.07326|0.07326	CCA|CAG		0.627	CCDC8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368598.1	NM_032040		8	29	0	0	0	1	0	8	29					A	46914722	G	A	46914722	3	1	279	1	0	0	0	0	1	0	0	0	2853	1348	47	3	274	3	CCDC8	19	46914722	Missense_Mutation	SNP	G	TCGA-J4-A83L-01A-11D-A34U-08	41691451	46914722	12214261	33	12917											
ETS2	2114	broad.mit.edu	37	chr21	40190389	40190389	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccctatggaatgcagacacaGaattaccccaaaggcggcct	13	6	9	13	1	0	2	0	0	0	2	0	3	0	3	4	3	2	1	4	3	5	2			TCGA-J4-A83L-01A-11D-A34U-08	TCGA-J4-A83L-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe51bd58-bb0e-41cd-aeee-4bf7aa9579a2	fab25240-6b31-4570-b1dc-8e37d42997d0	g.chr21:40190389G>A	ENST00000360214.3	+	8	1090	c.630G>A	c.(628-630)caG>caA	p.Q210Q	ETS2_ENST00000360938.3_Silent_p.Q210Q	NM_001256295.1	NP_001243224.1	P15036	ETS2_HUMAN	v-ets avian erythroblastosis virus E26 oncogene homolog 2	210					cell differentiation (GO:0030154)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|skeletal system development (GO:0001501)|transcription from RNA polymerase II promoter (GO:0006366)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(2)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	18		Prostate(19;6.33e-08)|all_epithelial(19;0.123)				TGCAGACACAGAATTACCCCA	0.552																																						ENST00000360214.3																			0				NS(1)|breast(2)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	18						c.(628-630)caG>caA		v-ets avian erythroblastosis virus E26 oncogene homolog 2							121	130	127					21																	40190389		2203	4300	6503	SO:0001819	synonymous_variant	2114				positive regulation of transcription, DNA-dependent|skeletal system development	nucleus	protein binding|sequence-specific DNA binding transcription factor activity	g.chr21:40190389G>A		CCDS13659.1	21q22.3	2013-07-09	2013-07-09		ENSG00000157557	ENSG00000157557			3489	protein-coding gene	gene with protein product		164740	"v-ets erythroblastosis virus E26 oncogene homolog 2 (avian)"			17986575	Standard	NM_001256295		Approved		uc002yxf.3	P15036	OTTHUMG00000090769	ENST00000360214.3:c.630G>A	21.37:g.40190389G>A						ETS2_ENST00000360938.3_Silent_p.Q210Q	p.Q210Q	NM_001256295.1	NP_001243224.1	P15036	ETS2_HUMAN			8	1090	+		Prostate(19;6.33e-08)|all_epithelial(19;0.123)	210					A6NM68|D3DSH6|Q53Y89	Silent	SNP	ENST00000360214.3	37	c.630G>A	CCDS13659.1																																																																																				0.552	ETS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207544.1			5	132	0	0	0	1	0	5	132					A	40190389	G	A	40190389	2	1	279	1	0	0	0	0	0	0	0	1	5276	933	33	3		3	ETS2	21	40190389	Silent	SNP	G	TCGA-J4-A83L-01A-11D-A34U-08		40190389	7939506	34	12918											
MEGF6	1953	broad.mit.edu	37	chr1	3422030	3422030	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agccagccttgcaggagcagCtgccatccctcttgtcacag	8	8	10	15	0	2	0	1	0	1	0	3	1	3	1	4	1	6	3	4	1	0	2			TCGA-J4-A83M-01A-11D-A34U-08	TCGA-J4-A83M-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9da3aab7-ebaa-437d-baab-a11571b586d6	a57c0f87-eec2-4a38-998d-294959df3d34	g.chr1:3422030C>T	ENST00000356575.4	-	16	2235	c.2009G>A	c.(2008-2010)aGc>aAc	p.S670N	MEGF6_ENST00000294599.4_Missense_Mutation_p.S565N	NM_001409.3	NP_001400.3	O75095	MEGF6_HUMAN	multiple EGF-like-domains 6	670						extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			cervix(2)|endometrium(3)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_cancers(77;0.00681)|all_epithelial(69;0.00301)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.105)	all_epithelial(116;7.41e-22)|all_lung(118;8.3e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211)		Epithelial(90;3.78e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.86e-22)|GBM - Glioblastoma multiforme(42;1.96e-12)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.000448)|BRCA - Breast invasive adenocarcinoma(365;0.000779)|KIRC - Kidney renal clear cell carcinoma(229;0.00645)|STAD - Stomach adenocarcinoma(132;0.00669)|Lung(427;0.213)		GCAGGAGCAGCTGCCATCCCT	0.706																																					Ovarian(73;978 3658)	ENST00000356575.4																			0				cervix(2)|endometrium(3)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19						c.(2008-2010)aGc>aAc		multiple EGF-like-domains 6							13	17	16					1																	3422030		2111	4229	6340	SO:0001583	missense	1953					extracellular region	calcium ion binding	g.chr1:3422030C>T	AB011539	CCDS41237.1	1p36.3	2008-02-05	2006-03-31	2006-03-31	ENSG00000162591	ENSG00000162591			3232	protein-coding gene	gene with protein product		604266	"EGF-like-domain, multiple 3"	EGFL3		9693030	Standard	NM_001409		Approved		uc001akl.3	O75095	OTTHUMG00000000611	ENST00000356575.4:c.2009G>A	1.37:g.3422030C>T	ENSP00000348982:p.Ser670Asn					MEGF6_ENST00000294599.4_Missense_Mutation_p.S565N	p.S670N	NM_001409.3	NP_001400.3	O75095	MEGF6_HUMAN		Epithelial(90;3.78e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.86e-22)|GBM - Glioblastoma multiforme(42;1.96e-12)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.000448)|BRCA - Breast invasive adenocarcinoma(365;0.000779)|KIRC - Kidney renal clear cell carcinoma(229;0.00645)|STAD - Stomach adenocarcinoma(132;0.00669)|Lung(427;0.213)	16	2235	-	all_cancers(77;0.00681)|all_epithelial(69;0.00301)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.105)	all_epithelial(116;7.41e-22)|all_lung(118;8.3e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211)	670					Q4AC86|Q5VV39	Missense_Mutation	SNP	ENST00000356575.4	37	c.2009G>A	CCDS41237.1	.	.	.	.	.	.	.	.	.	.	C	14.19	2.462937	0.43736	.	.	ENSG00000162591	ENST00000294599;ENST00000356575	T;T	0.35789	1.29;1.29	4.73	3.8	0.43715	EGF-like, laminin (1);	0.319497	0.33110	N	0.005275	T	0.25158	0.0611	L	0.32530	0.975	0.24988	N	0.991559	P;P	0.44521	0.588;0.837	B;P	0.44673	0.269;0.457	T	0.09015	-1.0694	10	0.26408	T	0.33	-20.859	3.2844	0.06926	0.1567:0.521:0.2257:0.0966	.	670;565	O75095;O75095-2	MEGF6_HUMAN;.	N	565;670	ENSP00000294599:S565N;ENSP00000348982:S670N	ENSP00000294599:S565N	S	-	2	0	MEGF6	3411890	0.996000	0.38824	0.971000	0.41717	0.899000	0.52679	0.442000	0.21628	2.160000	0.67779	0.462000	0.41574	AGC		0.706	MEGF6-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354866.1	NM_001409		3	17	0	0	0	1	0	3	17					T	3422030	C	T	3422030	3	4	280	1	0	0	0	0	1	0	0	0	9462	797	28	3	2704	3	MEGF6	1	3422030	Missense_Mutation	SNP	C	TCGA-J4-A83M-01A-11D-A34U-08		3422030	245828591	1	12919											
UBR4	23352	broad.mit.edu	37	chr1	19480294	19480294	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aggaagagtcttaatctcctGgataagaaaagtgtctggtt	13	12	11	5	0	3	2	0	0	3	2	4	4	3	4	1	3	0	1	1	3	5	3	rs267598259		TCGA-J4-A83M-01A-11D-A34U-08	TCGA-J4-A83M-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9da3aab7-ebaa-437d-baab-a11571b586d6	a57c0f87-eec2-4a38-998d-294959df3d34	g.chr1:19480294G>A	ENST00000375254.3	-	45	6625	c.6598C>T	c.(6598-6600)Cag>Tag	p.Q2200*	UBR4_ENST00000375217.2_Nonsense_Mutation_p.Q2200*|UBR4_ENST00000375226.2_Nonsense_Mutation_p.Q2200*|UBR4_ENST00000375267.2_Nonsense_Mutation_p.Q2200*	NM_020765.2	NP_065816.2	Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	2200					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		TTAATCTCCTGGATAAGAAAA	0.458																																						ENST00000375267.2																			0				breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171						c.(6598-6600)Cag>Tag		ubiquitin protein ligase E3 component n-recognin 4							99	101	100					1																	19480294		2203	4300	6503	SO:0001587	stop_gained	23352				interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr1:19480294G>A	AF348492	CCDS189.1	1p36.13	2008-06-23	2007-06-19	2007-06-19	ENSG00000127481	ENSG00000127481		"Ubiquitin protein ligase E3 component n-recognins"	30313	protein-coding gene	gene with protein product		609890	"zinc finger, UBR1 type 1"	ZUBR1		14702039, 10718198, 16055722	Standard	XM_005245802		Approved	KIAA1307, KIAA0462, RBAF600	uc001bbi.3	Q5T4S7	OTTHUMG00000002498	ENST00000375254.3:c.6598C>T	1.37:g.19480294G>A	ENSP00000364403:p.Gln2200*					UBR4_ENST00000375254.3_Nonsense_Mutation_p.Q2200*|UBR4_ENST00000375226.2_Nonsense_Mutation_p.Q2200*|UBR4_ENST00000375217.2_Nonsense_Mutation_p.Q2200*	p.Q2200*			Q5T4S7	UBR4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)	45	6601	-		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)	2200					A8MPT2|A8MQ33|A8MQB1|O60646|O75050|Q4QRK5|Q5T4S8|Q5T4S9|Q5TBN8|Q5TBP2|Q6DKH8|Q6P4A4|Q7L8P7|Q8IXJ4|Q8TDN5|Q8WV67|Q9HA46|Q9P2N9|Q9UG82	Nonsense_Mutation	SNP	ENST00000375254.3	37	c.6598C>T	CCDS189.1	.	.	.	.	.	.	.	.	.	.	G	47	13.200288	0.99726	.	.	ENSG00000127481	ENST00000375254;ENST00000375267;ENST00000375217;ENST00000375226;ENST00000417040;ENST00000419533	.	.	.	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	.	18.6837	0.91556	0.0:0.0:1.0:0.0	.	.	.	.	X	2200;2200;2200;2200;910;1417	.	ENSP00000364365:Q2200X	Q	-	1	0	UBR4	19352881	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.025000	0.93694	2.894000	0.99253	0.591000	0.81541	CAG		0.458	UBR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007085.1	NM_020765		27	66	0	0	0	1	0	27	66					A	19480294	G	A	19480294	4	1	280	1	0	0	0	0	0	1	0	0	16901	1357	47	3	9201	3	UBR4	1	19480294	Nonsense_Mutation	SNP	G	TCGA-J4-A83M-01A-11D-A34U-08	16058264	19480294	229770327	2	12920											
MACF1	23499	broad.mit.edu	37	chr1	39853894	39853894	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gattggccagtttcactgccGggtccgagagatgttctctc	6	12	12	11	2	2	1	1	0	1	1	5	4	3	1	3	2	1	2	3	2	0	3	rs199498174		TCGA-J4-A83M-01A-11D-A34U-08	TCGA-J4-A83M-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9da3aab7-ebaa-437d-baab-a11571b586d6	a57c0f87-eec2-4a38-998d-294959df3d34	g.chr1:39853894G>T	ENST00000372915.3	+	57	15482	c.15395G>T	c.(15394-15396)cGg>cTg	p.R5132L	MACF1_ENST00000317713.7_Missense_Mutation_p.R3065L|MACF1_ENST00000361689.2_Missense_Mutation_p.R3065L|MACF1_ENST00000567887.1_Missense_Mutation_p.R5164L|MACF1_ENST00000564288.1_Missense_Mutation_p.R5127L|MACF1_ENST00000545844.1_Missense_Mutation_p.R3065L|MACF1_ENST00000289893.4_Missense_Mutation_p.R3567L|MACF1_ENST00000539005.1_Missense_Mutation_p.R3044L			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	5132					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			TTTCACTGCCGGGTCCGAGAG	0.517																																						ENST00000564288.1																			0				breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203						c.(15379-15381)cGg>cTg		microtubule-actin crosslinking factor 1							104	89	94					1																	39853894		2203	4300	6503	SO:0001583	missense	23499				cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding	g.chr1:39853894G>T	AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"EF-hand domain containing"	13664	protein-coding gene	gene with protein product	"actin cross-linking factor", "620 kDa actin binding protein", "macrophin 1", "trabeculin-alpha", "actin cross-linking family protein 7"	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.15395G>T	1.37:g.39853894G>T	ENSP00000362006:p.Arg5132Leu					MACF1_ENST00000289893.4_Missense_Mutation_p.R3567L|MACF1_ENST00000372915.3_Missense_Mutation_p.R5132L|MACF1_ENST00000317713.7_Missense_Mutation_p.R3065L|MACF1_ENST00000567887.1_Missense_Mutation_p.R5164L|MACF1_ENST00000545844.1_Missense_Mutation_p.R3065L|MACF1_ENST00000361689.2_Missense_Mutation_p.R3065L|MACF1_ENST00000539005.1_Missense_Mutation_p.R3044L	p.R5127L			Q9UPN3	MACF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)		58	16157	+	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	5132					B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Missense_Mutation	SNP	ENST00000372915.3	37	c.15380G>T		.	.	.	.	.	.	.	.	.	.	G	16.67	3.187735	0.57909	.	.	ENSG00000127603	ENST00000545844;ENST00000372915;ENST00000361689;ENST00000317713;ENST00000539005;ENST00000289893	T;T;T;T;T;T	0.33865	1.39;1.39;1.39;1.39;1.39;1.39	5.9	5.9	0.94986	.	0.000000	0.52532	D	0.000079	T	0.48187	0.1486	L	0.47716	1.5	0.80722	D	1	D;D;P	0.71674	0.998;0.965;0.889	D;P;P	0.68943	0.961;0.653;0.653	T	0.26608	-1.0098	10	0.27082	T	0.32	.	10.6065	0.45398	0.1419:0.0:0.8581:0.0	.	5132;3065;3009	Q9UPN3;F8W8Q1;Q9UPN3-3	MACF1_HUMAN;.;.	L	3065;5132;3065;3065;3044;3567	ENSP00000439537:R3065L;ENSP00000362006:R5132L;ENSP00000354573:R3065L;ENSP00000313438:R3065L;ENSP00000444364:R3044L;ENSP00000289893:R3567L	ENSP00000289893:R3567L	R	+	2	0	MACF1	39626481	0.999000	0.42202	1.000000	0.80357	0.978000	0.69477	4.304000	0.59104	2.793000	0.96121	0.563000	0.77884	CGG		0.517	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1	NM_033044		8	29	1	0	5.4927e-09	1	6.2466e-09	8	29					T	39853894	G	T	39853894	3	4	280	1	0	0	0	0	1	0	0	0	9144	1116	39	5	15555	5	MACF1	1	39853894	Missense_Mutation	SNP	G	TCGA-J4-A83M-01A-11D-A34U-08	20373600	39853894	209396727	3	12921											
SLC6A9	6536	broad.mit.edu	37	chr1	44463552	44463552	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggagggtgtccccgtctgtgCggcagagccggaacatggcg	6	6	18	11	4	1	1	0	0	1	1	2	3	2	3	3	5	3	1	3	5	1	0			TCGA-J4-A83M-01A-11D-A34U-08	TCGA-J4-A83M-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9da3aab7-ebaa-437d-baab-a11571b586d6	a57c0f87-eec2-4a38-998d-294959df3d34	g.chr1:44463552C>T	ENST00000360584.2	-	13	2092	c.1901G>A	c.(1900-1902)cGc>cAc	p.R634H	SLC6A9_ENST00000372310.3_Missense_Mutation_p.R561H|SLC6A9_ENST00000372307.3_Intron|SLC6A9_ENST00000372306.3_Intron|SLC6A9_ENST00000475075.2_Missense_Mutation_p.R450H|SLC6A9_ENST00000357730.2_Missense_Mutation_p.R580H	NM_201649.3	NP_964012.2	P48067	SC6A9_HUMAN	solute carrier family 6 (neurotransmitter transporter, glycine), member 9	634					transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	glycine:sodium symporter activity (GO:0015375)|neurotransmitter:sodium symporter activity (GO:0005328)			endometrium(3)|large_intestine(8)|lung(7)|ovary(1)|skin(1)|urinary_tract(2)	22	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)			Glycine(DB00145)	CCCGTCTGTGCGGCAGAGCCG	0.647																																						ENST00000372310.3																			0				endometrium(3)|large_intestine(8)|lung(7)|ovary(1)|skin(1)|urinary_tract(2)	22						c.(1681-1683)cGc>cAc		solute carrier family 6 (neurotransmitter transporter, glycine), member 9	Glycine(DB00145)						78	80	79					1																	44463552		2203	4300	6503	SO:0001583	missense	6536					integral to plasma membrane|membrane fraction	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity	g.chr1:44463552C>T	S70609	CCDS30695.1, CCDS41316.1, CCDS41317.1	1p33	2013-05-22			ENSG00000196517	ENSG00000196517		"Solute carriers"	11056	protein-coding gene	gene with protein product		601019				8183239, 7587377	Standard	NM_006934		Approved	GLYT1	uc001cll.4	P48067	OTTHUMG00000008294	ENST00000360584.2:c.1901G>A	1.37:g.44463552C>T	ENSP00000353791:p.Arg634His					SLC6A9_ENST00000475075.2_Missense_Mutation_p.R450H|SLC6A9_ENST00000372307.3_Intron|SLC6A9_ENST00000372306.3_Intron|SLC6A9_ENST00000360584.2_Missense_Mutation_p.R634H|SLC6A9_ENST00000357730.2_Missense_Mutation_p.R580H	p.R561H	NM_001024845.2	NP_001020016.1	P48067	SC6A9_HUMAN			13	1847	-	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)	634					A6NDH1|A6NII2|A6NNZ8|Q5TAB8|Q5TAB9|Q5TAC0	Missense_Mutation	SNP	ENST00000360584.2	37	c.1682G>A	CCDS41317.1	.	.	.	.	.	.	.	.	.	.	C	13.59	2.281316	0.40394	.	.	ENSG00000196517	ENST00000372310;ENST00000475075;ENST00000360584;ENST00000357730	T;T;T;T	0.76316	-1.01;-1.01;-1.01;-1.01	5.45	5.45	0.79879	.	0.747709	0.12967	N	0.424540	T	0.72574	0.3477	L	0.52011	1.625	0.80722	D	1	B;B;B;B	0.24368	0.021;0.06;0.102;0.039	B;B;B;B	0.21151	0.012;0.021;0.033;0.017	T	0.65038	-0.6265	10	0.25751	T	0.34	.	13.6352	0.62219	0.0:0.9229:0.0:0.0771	.	565;561;580;634	B7Z3W8;P48067-2;P48067-3;P48067	.;.;.;SC6A9_HUMAN	H	561;450;634;580	ENSP00000361384:R561H;ENSP00000434460:R450H;ENSP00000353791:R634H;ENSP00000350362:R580H	ENSP00000350362:R580H	R	-	2	0	SLC6A9	44236139	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	1.949000	0.40313	2.553000	0.86117	0.609000	0.83330	CGC		0.647	SLC6A9-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000022825.2	NM_201649		11	23	0	0	0	1	0	11	23					T	44463552	C	T	44463552	3	4	280	1	0	0	0	0	1	0	0	0	14691	768	27	1	227	1	SLC6A9	1	44463552	Missense_Mutation	SNP	C	TCGA-J4-A83M-01A-11D-A34U-08	4609658	44463552	204787069	4	12922											
DOCK7	85440	broad.mit.edu	37	chr1	63048923	63048923	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cagctagatttaccaaagatTacctgaaacaaataacagca	19	8	5	9	0	0	3	0	1	0	2	0	3	0	3	2	0	6	2	2	0	7	5			TCGA-J4-A83M-01A-11D-A34U-08	TCGA-J4-A83M-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9da3aab7-ebaa-437d-baab-a11571b586d6	a57c0f87-eec2-4a38-998d-294959df3d34	g.chr1:63048923T>C	ENST00000340370.5	-	16	1820	c.1803A>G	c.(1801-1803)gtA>gtG	p.V601V	DOCK7_ENST00000251157.5_Silent_p.V601V	NM_033407.2	NP_212132.2	Q96N67	DOCK7_HUMAN	dedicator of cytokinesis 7	601	DHR-1.				activation of Rac GTPase activity (GO:0032863)|axonogenesis (GO:0007409)|establishment of neuroblast polarity (GO:0045200)|hematopoietic progenitor cell differentiation (GO:0002244)|interkinetic nuclear migration (GO:0022027)|microtubule cytoskeleton organization (GO:0000226)|neuron projection development (GO:0031175)|pigmentation (GO:0043473)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of neurogenesis (GO:0050767)|small GTPase mediated signal transduction (GO:0007264)	axon (GO:0030424)|basal part of cell (GO:0045178)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|neuron projection (GO:0043005)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rac GTPase binding (GO:0048365)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(19)|lung(42)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	92						TACCAAAGATTACCTGAAACA	0.299																																						ENST00000251157.5																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(19)|lung(42)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	92						c.(1801-1803)gtA>gtG		dedicator of cytokinesis 7							94	102	99					1																	63048923		2202	4300	6502	SO:0001819	synonymous_variant	85440				activation of Rac GTPase activity|axonogenesis|establishment of neuroblast polarity|microtubule cytoskeleton organization|positive regulation of peptidyl-serine phosphorylation	axon|basal part of cell|growth cone	GTP binding|guanyl-nucleotide exchange factor activity|Rac GTPase binding	g.chr1:63048923T>C		CCDS30734.1, CCDS60156.1, CCDS60157.1	1p32.1	2008-02-05			ENSG00000116641	ENSG00000116641			19190	protein-coding gene	gene with protein product		615730				12432077	Standard	NM_033407		Approved	KIAA1771, ZIR2	uc001daq.4	Q96N67	OTTHUMG00000013131	ENST00000340370.5:c.1803A>G	1.37:g.63048923T>C						DOCK7_ENST00000340370.5_Silent_p.V601V	p.V601V	NM_001271999.1	NP_001258928.1	Q96N67	DOCK7_HUMAN			16	1836	-			601			DHR-1.		Q00M63|Q2PPY7|Q45RE8|Q45RE9|Q5T1B9|Q5T1C0|Q6ZV32|Q8TB82|Q96NG6|Q96NI0|Q9C092	Silent	SNP	ENST00000340370.5	37	c.1803A>G	CCDS30734.1																																																																																				0.299	DOCK7-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036806.1	NM_033407		4	124	0	0	0	1	0	4	124					C	63048923	T	C	63048923	2	2	280	1	0	0	0	0	0	0	0	1	4692	1741	61	4		4	DOCK7	1	63048923	Silent	SNP	T	TCGA-J4-A83M-01A-11D-A34U-08	18585371	63048923	186201698	5	12923											
LPPR4	9890	broad.mit.edu	37	chr1	99772185	99772185	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggcccatcatacagatcccGtccactgaaggtgaaggcag	12	6	11	12	1	1	3	1	2	0	1	3	3	3	3	3	3	1	1	3	3	3	1	rs201385642		TCGA-J4-A83M-01A-11D-A34U-08	TCGA-J4-A83M-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9da3aab7-ebaa-437d-baab-a11571b586d6	a57c0f87-eec2-4a38-998d-294959df3d34	g.chr1:99772185G>A	ENST00000370185.3	+	7	2408	c.1911G>A	c.(1909-1911)ccG>ccA	p.P637P	LPPR4_ENST00000457765.1_Silent_p.P579P|LPPR4_ENST00000370184.1_Silent_p.P479P	NM_014839.4	NP_055654.2	Q7Z2D5	LPPR4_HUMAN		637					axonogenesis (GO:0007409)|inner ear development (GO:0048839)|phospholipid dephosphorylation (GO:0046839)	integral component of plasma membrane (GO:0005887)	lipid phosphatase activity (GO:0042577)|phosphatidate phosphatase activity (GO:0008195)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(39)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	72		all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202)		Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22)		TACAGATCCCGTCCACTGAAG	0.547																																						ENST00000370185.3																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(39)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	72						c.(1909-1911)ccG>ccA				G	,	0,4406		0,0,2203	81	78	79		1737,1911	-7.4	0.6	1		79	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	LPPR4	NM_001166252.1,NM_014839.4	,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,	579/706,637/764	99772185	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0						phosphatidate phosphatase activity	g.chr1:99772185G>A																												ENST00000370185.3:c.1911G>A	1.37:g.99772185G>A						LPPR4_ENST00000457765.1_Silent_p.P579P|LPPR4_ENST00000370184.1_Silent_p.P479P	p.P637P	NM_014839.4	NP_055654.2	Q7Z2D5	LPPR4_HUMAN		Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22)	7	2408	+		all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202)	637					E7EPS1|O75043|Q5T9R9|Q86XQ5|Q8N3F1|Q96MP0	Silent	SNP	ENST00000370185.3	37	c.1911G>A	CCDS757.1																																																																																				0.547	LPPR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029670.2			7	20	0	0	0	1	0	7	20					A	99772185	G	A	99772185	2	1	280	1	0	0	0	0	0	0	0	1	8927	1132	40	1		1	LPPR4	1	99772185	Silent	SNP	G	TCGA-J4-A83M-01A-11D-A34U-08	36723262	99772185	149478436	6	12924											
IFI16	3428	broad.mit.edu	37	chr1	159002391	159002391	+	Nonsense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaacagcgtcagcttccataTccttcagaggccagcacaac	12	7	8	14	1	2	1	2	0	0	1	4	2	4	1	3	1	5	2	3	1	3	3			TCGA-J4-A83M-01A-11D-A34U-08	TCGA-J4-A83M-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9da3aab7-ebaa-437d-baab-a11571b586d6	a57c0f87-eec2-4a38-998d-294959df3d34	g.chr1:159002391T>A	ENST00000295809.7	+	7	1494	c.1239T>A	c.(1237-1239)taT>taA	p.Y413*	IFI16_ENST00000448393.2_Nonsense_Mutation_p.Y413*|IFI16_ENST00000430894.2_Nonsense_Mutation_p.Y361*|IFI16_ENST00000359709.3_Nonsense_Mutation_p.Y357*|IFI16_ENST00000368131.4_Nonsense_Mutation_p.Y413*|IFI16_ENST00000340979.6_Nonsense_Mutation_p.Y413*|IFI16_ENST00000368132.3_Nonsense_Mutation_p.Y413*			Q16666	IF16_HUMAN	interferon, gamma-inducible protein 16	413			Y -> N (in dbSNP:rs1057028). {ECO:0000269|PubMed:12894224, ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334, ECO:0000269|Ref.6}.		activation of cysteine-type endopeptidase activity (GO:0097202)|activation of innate immune response (GO:0002218)|autophagy (GO:0006914)|cell proliferation (GO:0008283)|cellular response to glucose starvation (GO:0042149)|cellular response to ionizing radiation (GO:0071479)|defense response to virus (GO:0051607)|hemopoiesis (GO:0030097)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|monocyte differentiation (GO:0030224)|myeloid cell differentiation (GO:0030099)|negative regulation of cysteine-type endopeptidase activity (GO:2000117)|negative regulation of DNA binding (GO:0043392)|negative regulation of innate immune response (GO:0045824)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of viral genome replication (GO:0045071)|positive regulation of cytokine production (GO:0001819)|positive regulation of interleukin-1 beta production (GO:0032731)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of autophagy (GO:0010506)|regulation of gene expression, epigenetic (GO:0040029)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	core promoter binding (GO:0001047)|double-stranded DNA binding (GO:0003690)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|transcription factor binding (GO:0008134)			cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_hematologic(112;0.0429)					AGCTTCCATATCCTTCAGAGG	0.458																																						ENST00000295809.7																			0				cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(1237-1239)taT>taA		interferon, gamma-inducible protein 16							129	121	124					1																	159002391		2203	4300	6503	SO:0001587	stop_gained	3428				cell proliferation|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|monocyte differentiation|negative regulation of transcription, DNA-dependent|response to virus|transcription, DNA-dependent	cytoplasm|nuclear speck|nucleolus	double-stranded DNA binding|protein binding	g.chr1:159002391T>A	M63838	CCDS1180.3, CCDS58039.1	1q22	2008-02-05			ENSG00000163565	ENSG00000163565			5395	protein-coding gene	gene with protein product		147586				1526658, 7959953	Standard	NM_005531		Approved	IFNGIP1, PYHIN2	uc010pis.2	Q16666	OTTHUMG00000037108	ENST00000295809.7:c.1239T>A	1.37:g.159002391T>A	ENSP00000295809:p.Tyr413*					IFI16_ENST00000368131.4_Nonsense_Mutation_p.Y413*|IFI16_ENST00000368132.3_Nonsense_Mutation_p.Y413*|IFI16_ENST00000340979.6_Nonsense_Mutation_p.Y413*|IFI16_ENST00000430894.2_Nonsense_Mutation_p.Y361*|IFI16_ENST00000359709.3_Nonsense_Mutation_p.Y357*|IFI16_ENST00000448393.2_Nonsense_Mutation_p.Y413*	p.Y413*			Q16666	IF16_HUMAN			7	1494	+	all_hematologic(112;0.0429)		413		Y -> N (in dbSNP:rs1057028).			B4DJT8|H3BLV7|Q59GX0|Q5T3W7|Q5T3W8|Q5T3X0|Q5T3X1|Q5T3X2|Q8N9E5|Q8NEQ7|Q96AJ5|Q9UH78	Nonsense_Mutation	SNP	ENST00000295809.7	37	c.1239T>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	36|36	5.608190|5.608190	0.96626|0.96626	.|.	.|.	ENSG00000163565|ENSG00000163565	ENST00000448393|ENST00000295809;ENST00000340979;ENST00000368131;ENST00000368132;ENST00000430894	.|.	.|.	.|.	2.14|2.14	-2.42|-2.42	0.06542|0.06542	.|.	.|.	.|.	.|.	.|.	T|.	0.11707|.	0.0285|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.26608|.	-1.0098|.	3|.	.|0.37606	.|T	.|0.19	.|.	2.3042|2.3042	0.04170|0.04170	0.313:0.0:0.1891:0.4979|0.313:0.0:0.1891:0.4979	.|.	.|.	.|.	.|.	N|X	234|413;413;413;413;361	.|.	.|ENSP00000295809:Y413X	I|Y	+|+	2|3	0|2	IFI16|IFI16	157269015|157269015	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.004000|0.004000	0.04260|0.04260	-0.626000|-0.626000	0.05527|0.05527	-0.590000|-0.590000	0.05866|0.05866	-0.714000|-0.714000	0.03626|0.03626	ATC|TAT		0.458	IFI16-013	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000421720.1	NM_005531		8	35	0	0	0	1	0	8	35					A	159002391	T	A	159002391	4	1	280	1	0	0	0	0	0	1	0	0	7511	1442	50	5	1261	5	IFI16	1	159002391	Nonsense_Mutation	SNP	T	TCGA-J4-A83M-01A-11D-A34U-08	59230206	159002391	90248230	7	12925											
CTSE	1510	broad.mit.edu	37	chr1	206320204	206320204	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtgcacttctttccagagaCgcacagcaggttccagcctt	9	10	9	13	1	1	1	0	0	1	1	3	2	3	1	3	1	3	4	3	1	0	4	rs199778962		TCGA-J4-A83M-01A-11D-A34U-08	TCGA-J4-A83M-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9da3aab7-ebaa-437d-baab-a11571b586d6	a57c0f87-eec2-4a38-998d-294959df3d34	g.chr1:206320204C>T	ENST00000358184.2	+	4	465	c.347C>T	c.(346-348)aCg>aTg	p.T116M	CTSE_ENST00000432969.2_Missense_Mutation_p.T41M|CTSE_ENST00000468617.1_3'UTR|CTSE_ENST00000361052.3_Missense_Mutation_p.T116M|CTSE_ENST00000360218.2_Missense_Mutation_p.T116M	NM_001910.3	NP_001901.1	P14091	CATE_HUMAN	cathepsin E	116					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|digestion (GO:0007586)|protein autoprocessing (GO:0016540)	endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)	aspartic-type endopeptidase activity (GO:0004190)			endometrium(2)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|skin(3)	16			BRCA - Breast invasive adenocarcinoma(75;0.0754)			TTTCCAGAGACGCACAGCAGG	0.577													C|||	1	0.000199681	0	0	5008	,	,		19316	0.001		0	False		,,,				2504	0					ENST00000361052.3																			0				endometrium(2)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|skin(3)	16						c.(346-348)aCg>aTg		cathepsin E							114	101	105					1																	206320204		2203	4300	6503	SO:0001583	missense	1510				antigen processing and presentation of exogenous peptide antigen via MHC class II|digestion|proteolysis	endosome	aspartic-type endopeptidase activity	g.chr1:206320204C>T	BC042537	CCDS73012.1, CCDS73013.1	1q32.1	2008-02-05			ENSG00000196188	ENSG00000196188	3.4.23.5	"Cathepsins"	2530	protein-coding gene	gene with protein product		116890				2369841, 2674141	Standard	NM_001910		Approved		uc001hdu.3	P14091	OTTHUMG00000036121	ENST00000358184.2:c.347C>T	1.37:g.206320204C>T	ENSP00000350911:p.Thr116Met					CTSE_ENST00000468617.1_3'UTR|CTSE_ENST00000360218.2_Missense_Mutation_p.T116M|CTSE_ENST00000432969.2_Missense_Mutation_p.T41M|CTSE_ENST00000358184.2_Missense_Mutation_p.T116M	p.T116M			P14091	CATE_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.0754)		4	465	+			116					Q5TZ01|Q5TZ02|Q9NY58|Q9UCE3|Q9UCE4	Missense_Mutation	SNP	ENST00000358184.2	37	c.347C>T	CCDS1462.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	2.995	-0.207288	0.06180	.	.	ENSG00000196188	ENST00000358184;ENST00000361052;ENST00000360218;ENST00000432969	T;T;T;T	0.57907	0.37;0.37;0.37;0.37	4.6	-1.54	0.08584	.	0.842078	0.10339	N	0.686491	T	0.21841	0.0526	N	0.12443	0.215	0.09310	N	1	P;B;B	0.35208	0.49;0.311;0.016	B;B;B	0.21360	0.034;0.02;0.005	T	0.11155	-1.0599	10	0.34782	T	0.22	.	1.4698	0.02414	0.4668:0.2352:0.1105:0.1874	.	41;116;116	B4DNU8;P14091-2;P14091-1	.;.;.	M	116;116;116;41	ENSP00000350911:T116M;ENSP00000354337:T116M;ENSP00000353350:T116M;ENSP00000394607:T41M	ENSP00000350911:T116M	T	+	2	0	CTSE	204486827	0.000000	0.05858	0.067000	0.19924	0.014000	0.08584	-0.156000	0.10100	0.045000	0.15804	-1.398000	0.01145	ACG		0.577	CTSE-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000087998.1	NM_001910		4	50	0	0	0	1	0	4	50					T	206320204	C	T	206320204	3	4	280	1	0	0	0	0	1	0	0	0	4033	536	19	1	361	1	CTSE	1	206320204	Missense_Mutation	SNP	C	TCGA-J4-A83M-01A-11D-A34U-08	47317813	206320204	42930417	8	12926											
TTN	7273	broad.mit.edu	37	chr2	179635207	179635207	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cataaacagactcatccacgAtggcacagtttttaatcctc	13	11	5	12	1	1	1	1	0	0	1	4	2	3	1	2	1	1	2	2	1	3	4			TCGA-J4-A83M-01A-11D-A34U-08	TCGA-J4-A83M-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9da3aab7-ebaa-437d-baab-a11571b586d6	a57c0f87-eec2-4a38-998d-294959df3d34	g.chr2:179635207A>G	ENST00000591111.1	-	35	8536	c.8312T>C	c.(8311-8313)aTc>aCc	p.I2771T	TTN_ENST00000460472.2_Missense_Mutation_p.I2725T|TTN_ENST00000589042.1_Missense_Mutation_p.I2771T|TTN_ENST00000360870.5_Missense_Mutation_p.I2771T|TTN_ENST00000342992.6_Missense_Mutation_p.I2771T|TTN-AS1_ENST00000610005.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.I2725T|TTN-AS1_ENST00000584485.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.I2725T			Q8WZ42	TITIN_HUMAN	titin	13097			I -> M (in a breast infiltrating ductal carcinoma sample; somatic mutation). {ECO:0000269|PubMed:17344846}.		adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTCATCCACGATGGCACAGTT	0.433																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(8311-8313)aTc>aCc		titin							113	112	112					2																	179635207		2203	4300	6503	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179635207A>G	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.8312T>C	2.37:g.179635207A>G	ENSP00000465570:p.Ile2771Thr					TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.I2771T|TTN_ENST00000360870.5_Missense_Mutation_p.I2771T|TTN_ENST00000359218.5_Missense_Mutation_p.I2725T|TTN_ENST00000342992.6_Missense_Mutation_p.I2771T|TTN_ENST00000342175.6_Missense_Mutation_p.I2725T|TTN_ENST00000460472.2_Missense_Mutation_p.I2725T	p.I2771T	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		35	8536	-			2509		I -> M (in a breast infiltrating ductal carcinoma sample; somatic mutation).			A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.8312T>C		.	.	.	.	.	.	.	.	.	.	A	9.934	1.215677	0.22373	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127;ENST00000360870	T;T;T;T;T	0.76186	-1.0;-1.0;-1.0;-1.0;-1.0	6.06	4.9	0.64082	Immunoglobulin I-set (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.55226	0.1907	N	0.04018	-0.295	0.09310	N	1	B;B;B;B;B	0.06786	0.0;0.0;0.0;0.0;0.001	B;B;B;B;B	0.06405	0.0;0.0;0.0;0.0;0.002	T	0.52147	-0.8614	9	0.87932	D	0	.	12.3952	0.55380	0.9338:0.0:0.0662:0.0	.	2725;2725;2725;2771;2771	D3DPF9;E7EQE6;E7ET18;Q8WZ42;Q8WZ42-6	.;.;.;TITIN_HUMAN;.	T	2771;2725;2725;2725;2725;2771	ENSP00000343764:I2771T;ENSP00000434586:I2725T;ENSP00000340554:I2725T;ENSP00000352154:I2725T;ENSP00000354117:I2771T	ENSP00000340554:I2725T	I	-	2	0	TTN	179343452	0.933000	0.31639	0.017000	0.16124	0.939000	0.58152	5.275000	0.65575	2.315000	0.78130	0.533000	0.62120	ATC		0.433	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		4	96	0	0	0	1	0	4	96					G	179635207	A	G	179635207	3	3	280	1	0	0	0	0	1	0	0	0	16732	333	12	4	102988	4	TTN	2	179635207	Missense_Mutation	SNP	A	TCGA-J4-A83M-01A-11D-A34U-08		179635207	63564166	9	12927											
PAX3	5077	broad.mit.edu	37	chr2	223085988	223085988	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aggtctccgacagctggtacGttggcaaggtcggcatggca	8	8	15	10	3	1	0	0	0	1	0	3	1	1	0	1	6	2	6	1	6	2	2	rs372190620		TCGA-J4-A83M-01A-11D-A34U-08	TCGA-J4-A83M-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9da3aab7-ebaa-437d-baab-a11571b586d6	a57c0f87-eec2-4a38-998d-294959df3d34	g.chr2:223085988G>A	ENST00000350526.4	-	6	1047	c.911C>T	c.(910-912)aCg>aTg	p.T304M	PAX3_ENST00000392070.2_Missense_Mutation_p.T304M|PAX3_ENST00000344493.4_Missense_Mutation_p.T304M|PAX3_ENST00000336840.6_Missense_Mutation_p.T304M|PAX3_ENST00000392069.2_Missense_Mutation_p.T304M|PAX3_ENST00000409551.3_Missense_Mutation_p.T303M|PAX3_ENST00000464706.1_5'UTR	NM_181457.3	NP_852122.1	P23760	PAX3_HUMAN	paired box 3	304					apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|developmental pigmentation (GO:0048066)|heart development (GO:0007507)|mammary gland specification (GO:0060594)|muscle organ development (GO:0007517)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural crest cell migration (GO:0001755)|neural tube closure (GO:0001843)|neuron fate commitment (GO:0048663)|organ morphogenesis (GO:0009887)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of somitogenesis (GO:0014807)|sensory perception of sound (GO:0007605)|spinal cord association neuron differentiation (GO:0021527)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)		PAX3/NCOA2(4)|PAX3/NCOA1(8)|PAX3/FOXO1(749)	NS(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(13)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	38		Renal(207;0.0183)		Epithelial(121;4.13e-10)|all cancers(144;1.85e-07)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CAGCTGGTACGTTGGCAAGGT	0.537			T	"FOXO1A, NCOA1"	alveolar rhabdomyosarcoma		Waardenburg syndrome; craniofacial-deafness-hand syndrome																															ENST00000350526.4				Dom	yes		2	2q35	5077	T	paired box gene 3	yes	Waardenburg syndrome; craniofacial-deafness-hand syndrome	M	"FOXO1A, NCOA1"		alveolar rhabdomyosarcoma	PAX3/NCOA2(4)|PAX3/NCOA1(8)|PAX3/FOXO1(749)	0				NS(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(13)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	38						c.(910-912)aCg>aTg		paired box 3		G	MET/THR,MET/THR,MET/THR,MET/THR,MET/THR,MET/THR	0,4406		0,0,2203	204	211	209		908,911,911,911,911,911	6.1	1	2		209	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense,missense,missense	PAX3	NM_001127366.2,NM_181457.3,NM_181458.3,NM_181459.3,NM_181460.3,NM_181461.3	81,81,81,81,81,81	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging	303/484,304/480,304/485,304/506,304/408,304/404	223085988	1,13005	2203	4300	6503	SO:0001583	missense	5077				apoptosis|organ morphogenesis|positive regulation of transcription from RNA polymerase II promoter|sensory perception of sound|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:223085988G>A		CCDS2449.1, CCDS2450.1, CCDS2451.1, CCDS42825.1, CCDS2448.1, CCDS42826.1, CCDS46522.1, CCDS46523.1	2q36.1	2011-06-20	2007-07-12		ENSG00000135903	ENSG00000135903		"Paired boxes", "Homeoboxes / PRD class"	8617	protein-coding gene	gene with protein product		606597	"Waardenburg syndrome 1", "paired box gene 3 (Waardenburg syndrome 1)"	WS1		1347149	Standard	NM_181461		Approved	HUP2	uc002vmt.2	P23760	OTTHUMG00000133157	ENST00000350526.4:c.911C>T	2.37:g.223085988G>A	ENSP00000343052:p.Thr304Met					PAX3_ENST00000392070.2_Missense_Mutation_p.T304M|PAX3_ENST00000392069.2_Missense_Mutation_p.T304M|PAX3_ENST00000344493.4_Missense_Mutation_p.T304M|PAX3_ENST00000409551.3_Missense_Mutation_p.T303M|PAX3_ENST00000464706.1_5'UTR|PAX3_ENST00000336840.6_Missense_Mutation_p.T304M	p.T304M	NM_181457.3	NP_852122.1	P23760	PAX3_HUMAN		Epithelial(121;4.13e-10)|all cancers(144;1.85e-07)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	6	1047	-		Renal(207;0.0183)	304					G5E9C1|Q16448|Q494Z3|Q494Z4|Q53T90|Q6GSJ9|Q86UQ2|Q86UQ3	Missense_Mutation	SNP	ENST00000350526.4	37	c.911C>T	CCDS42826.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.946475	0.73672	0.0	1.16E-4	ENSG00000135903	ENST00000392069;ENST00000344493;ENST00000350526;ENST00000392070;ENST00000336840;ENST00000409551;ENST00000464706;ENST00000555548	D;D;D;D;D;D	0.94497	-3.42;-3.44;-3.42;-3.41;-3.44;-3.42	6.06	6.06	0.98353	.	0.156083	0.64402	D	0.000016	D	0.94456	0.8216	L	0.34521	1.04	0.80722	D	1	P;P;D;D;D	0.59357	0.934;0.952;0.985;0.978;0.966	B;B;B;P;B	0.54270	0.301;0.186;0.343;0.747;0.257	D	0.93548	0.6884	10	0.42905	T	0.14	.	20.6208	0.99490	0.0:0.0:1.0:0.0	.	304;303;304;304;304	P23760;Q494Z4;P23760-4;P23760-5;G5E9C1	PAX3_HUMAN;.;.;.;.	M	304;304;304;304;304;303;21;21	ENSP00000375921:T304M;ENSP00000342092:T304M;ENSP00000343052:T304M;ENSP00000375922:T304M;ENSP00000338767:T304M;ENSP00000386750:T303M	ENSP00000338767:T304M	T	-	2	0	PAX3	222794232	1.000000	0.71417	1.000000	0.80357	0.931000	0.56810	7.573000	0.82421	2.882000	0.98803	0.655000	0.94253	ACG		0.537	PAX3-006	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000328670.1			4	185	0	0	0	1	0	4	185					A	223085988	G	A	223085988	3	1	280	1	0	0	0	0	1	0	0	0	11480	1145	40	1	654	1	PAX3	2	223085988	Missense_Mutation	SNP	G	TCGA-J4-A83M-01A-11D-A34U-08	43450781	223085988	20113385	10	12928											
CAPN7	23473	broad.mit.edu	37	chr3	15292459	15292459	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caatatagcgttggatttgaGgttgtaacagtttctactct	10	16	9	6	1	2	1	0	1	2	0	2	2	2	2	0	2	3	4	0	2	5	8	rs575083078		TCGA-J4-A83M-01A-11D-A34U-08	TCGA-J4-A83M-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9da3aab7-ebaa-437d-baab-a11571b586d6	a57c0f87-eec2-4a38-998d-294959df3d34	g.chr3:15292459G>T	ENST00000253693.2	+	20	2479	c.2226G>T	c.(2224-2226)gaG>gaT	p.E742D		NM_014296.2	NP_055111.1	Q9Y6W3	CAN7_HUMAN	calpain 7	742	Domain N.				positive regulation of epithelial cell migration (GO:0010634)|self proteolysis (GO:0097264)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|endopeptidase activity (GO:0004175)|MIT domain binding (GO:0090541)			breast(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(5)|ovary(1)|skin(2)	22						TTGGATTTGAGGTTGTAACAG	0.333																																						ENST00000253693.2																			0				breast(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(5)|ovary(1)|skin(2)	22						c.(2224-2226)gaG>gaT		calpain 7							155	152	153					3																	15292459		2203	4300	6503	SO:0001583	missense	23473				proteolysis	nucleus	calcium-dependent cysteine-type endopeptidase activity	g.chr3:15292459G>T	AB028639	CCDS2624.1	3p24	2008-07-18			ENSG00000131375	ENSG00000131375			1484	protein-coding gene	gene with protein product	"calpain like protease", "homolog of Aspergillus Nidulans PALB"	606400				8163008, 10051333	Standard	NM_014296		Approved	PalBH	uc003bzn.3	Q9Y6W3	OTTHUMG00000129863	ENST00000253693.2:c.2226G>T	3.37:g.15292459G>T	ENSP00000253693:p.Glu742Asp						p.E742D	NM_014296.2	NP_055111.1	Q9Y6W3	CAN7_HUMAN			20	2479	+			742			Domain N.			Missense_Mutation	SNP	ENST00000253693.2	37	c.2226G>T	CCDS2624.1	.	.	.	.	.	.	.	.	.	.	G	12.40	1.925821	0.34002	.	.	ENSG00000131375	ENST00000253693	D	0.87412	-2.25	6.04	-1.28	0.09318	Peptidase C2, calpain, large subunit, domain III (2);Peptidase C2, calpain, domain III (1);	0.045721	0.85682	D	0.000000	T	0.77068	0.4076	L	0.34521	1.04	0.58432	D	0.999991	B	0.14012	0.009	B	0.18871	0.023	T	0.61559	-0.7038	10	0.22706	T	0.39	-27.3609	11.3399	0.49527	0.7855:0.0:0.2145:0.0	.	742	Q9Y6W3	CAN7_HUMAN	D	742	ENSP00000253693:E742D	ENSP00000253693:E742D	E	+	3	2	CAPN7	15267463	1.000000	0.71417	0.932000	0.37286	0.848000	0.48234	1.367000	0.34204	-0.114000	0.11936	-0.781000	0.03364	GAG		0.333	CAPN7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252105.2	NM_014296		3	78	1	0	1	1	1	3	78					T	15292459	G	T	15292459	3	4	280	1	0	0	0	0	1	0	0	0	2631	991	35	5	2304	5	CAPN7	3	15292459	Missense_Mutation	SNP	G	TCGA-J4-A83M-01A-11D-A34U-08		15292459	182729971	11	12929											
ABHD6	57406	broad.mit.edu	37	chr3	58279458	58279458	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatcgactttttagcttctgTgcacaacacagacaacaaca	15	10	5	11	1	1	1	0	0	1	1	2	2	1	1	0	0	5	2	0	0	5	4			TCGA-J4-A83M-01A-11D-A34U-08	TCGA-J4-A83M-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9da3aab7-ebaa-437d-baab-a11571b586d6	a57c0f87-eec2-4a38-998d-294959df3d34	g.chr3:58279458T>G	ENST00000478253.1	+	10	1481	c.980T>G	c.(979-981)gTg>gGg	p.V327G	ABHD6_ENST00000295962.4_Missense_Mutation_p.V327G			Q9BV23	ABHD6_HUMAN	abhydrolase domain containing 6	327					long term synaptic depression (GO:0060292)|negative regulation of cell migration (GO:0030336)|regulation of endocannabinoid signaling pathway (GO:2000124)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	acylglycerol lipase activity (GO:0047372)			NS(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1)	16				BRCA - Breast invasive adenocarcinoma(55;0.000225)|KIRC - Kidney renal clear cell carcinoma(284;0.0471)|Kidney(284;0.0589)|OV - Ovarian serous cystadenocarcinoma(275;0.209)		TTAGCTTCTGTGCACAACACA	0.537																																						ENST00000478253.1																			0				NS(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1)	16						c.(979-981)gTg>gGg		abhydrolase domain containing 6							86	75	78					3																	58279458		2203	4300	6503	SO:0001583	missense	57406					integral to membrane	acylglycerol lipase activity	g.chr3:58279458T>G	AF225418	CCDS2887.1	3p21.2	2006-03-10			ENSG00000163686	ENSG00000163686		"Abhydrolase domain containing"	21398	protein-coding gene	gene with protein product							Standard	NM_020676		Approved		uc003djs.4	Q9BV23	OTTHUMG00000159150	ENST00000478253.1:c.980T>G	3.37:g.58279458T>G	ENSP00000420315:p.Val327Gly					ABHD6_ENST00000295962.4_Missense_Mutation_p.V327G	p.V327G			Q9BV23	ABHD6_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000225)|KIRC - Kidney renal clear cell carcinoma(284;0.0471)|Kidney(284;0.0589)|OV - Ovarian serous cystadenocarcinoma(275;0.209)	10	1481	+			327					B2R7Y9|Q6ZMF7	Missense_Mutation	SNP	ENST00000478253.1	37	c.980T>G	CCDS2887.1	.	.	.	.	.	.	.	.	.	.	T	15.29	2.788740	0.49997	.	.	ENSG00000163686	ENST00000478253;ENST00000295962	D;D	0.81996	-1.56;-1.56	5.84	3.44	0.39384	.	0.311519	0.34853	N	0.003640	T	0.73976	0.3656	L	0.41906	1.305	0.51012	D	0.999905	B	0.27380	0.177	B	0.28553	0.091	T	0.65434	-0.6169	10	0.37606	T	0.19	-9.9948	7.9954	0.30265	0.0:0.0713:0.1369:0.7918	.	327	Q9BV23	ABHD6_HUMAN	G	327	ENSP00000420315:V327G;ENSP00000295962:V327G	ENSP00000295962:V327G	V	+	2	0	ABHD6	58254498	1.000000	0.71417	0.993000	0.49108	0.977000	0.68977	3.839000	0.55835	0.459000	0.27016	0.533000	0.62120	GTG		0.537	ABHD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353511.1	NM_020676		10	36	0	0	0	1	0	10	36					G	58279458	T	G	58279458	3	3	280	1	0	0	0	0	1	0	0	0	86	1696	59	5	1010	5	ABHD6	3	58279458	Missense_Mutation	SNP	T	TCGA-J4-A83M-01A-11D-A34U-08	42986999	58279458	139742972	12	12930											
ADAMTS12	81792	broad.mit.edu	37	chr5	33658389	33658389	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acacattcctgaaaggtgagAcaggcccagggtctcgcagg	11	6	13	11	1	1	2	0	2	1	1	3	3	2	2	2	4	0	1	2	4	1	1			TCGA-J4-A83M-01A-11D-A34U-08	TCGA-J4-A83M-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9da3aab7-ebaa-437d-baab-a11571b586d6	a57c0f87-eec2-4a38-998d-294959df3d34	g.chr5:33658389A>T	ENST00000504830.1	-	7	1425	c.1090T>A	c.(1090-1092)Tct>Act	p.S364T	ADAMTS12_ENST00000504582.1_5'UTR|ADAMTS12_ENST00000352040.3_Missense_Mutation_p.S364T	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	364	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cellular response to BMP stimulus (GO:0071773)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of cellular response to hepatocyte growth factor stimulus (GO:2001113)|negative regulation of cellular response to vascular endothelial growth factor stimulus (GO:1902548)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of hepatocyte growth factor receptor signaling pathway (GO:1902203)|proteoglycan catabolic process (GO:0030167)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of endothelial tube morphogenesis (GO:1901509)|regulation of inflammatory response (GO:0050727)	extracellular matrix (GO:0031012)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						GAAAGGTGAGACAGGCCCAGG	0.507										HNSCC(64;0.19)																												ENST00000504830.1																			0				NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						c.(1090-1092)Tct>Act		ADAM metallopeptidase with thrombospondin type 1 motif, 12							138	139	139					5																	33658389		2203	4300	6503	SO:0001583	missense	81792				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:33658389A>T	AJ250725	CCDS34140.1	5q35	2008-07-18	2005-08-19		ENSG00000151388	ENSG00000151388		"ADAM metallopeptidases with thrombospondin type 1 motif"	14605	protein-coding gene	gene with protein product		606184	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 12"			11279086	Standard	NM_030955		Approved		uc003jia.1	P58397	OTTHUMG00000162088	ENST00000504830.1:c.1090T>A	5.37:g.33658389A>T	ENSP00000422554:p.Ser364Thr	HNSCC(64;0.19)				ADAMTS12_ENST00000504582.1_5'UTR|ADAMTS12_ENST00000352040.3_Missense_Mutation_p.S364T	p.S364T	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN			7	1425	-			364			Peptidase M12B.		A2RRN9|A5D6V6|Q6UWL3	Missense_Mutation	SNP	ENST00000504830.1	37	c.1090T>A	CCDS34140.1	.	.	.	.	.	.	.	.	.	.	A	32	5.106424	0.94292	.	.	ENSG00000151388	ENST00000504830;ENST00000352040	D;D	0.87029	-2.2;-2.2	6.17	6.17	0.99709	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.000000	0.85682	D	0.000000	D	0.90373	0.6987	L	0.35542	1.07	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.988	D	0.91363	0.5113	10	0.72032	D	0.01	.	16.8222	0.85835	1.0:0.0:0.0:0.0	.	364;364	P58397-3;P58397	.;ATS12_HUMAN	T	364	ENSP00000422554:S364T;ENSP00000344847:S364T	ENSP00000344847:S364T	S	-	1	0	ADAMTS12	33694146	1.000000	0.71417	0.997000	0.53966	0.889000	0.51656	9.339000	0.96797	2.371000	0.80710	0.533000	0.62120	TCT		0.507	ADAMTS12-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367164.2	NM_030955		30	50	0	0	0	1	0	30	50					T	33658389	A	T	33658389	3	4	280	1	0	0	0	0	1	0	0	0	257	275	10	5	3766	5	ADAMTS12	5	33658389	Missense_Mutation	SNP	A	TCGA-J4-A83M-01A-11D-A34U-08		33658389	147256871	13	12931											
KCTD16	57528	broad.mit.edu	37	chr5	143853387	143853387	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agacggtcatctgtggtcccGtgacacgccagaccaacatc	10	7	10	14	3	2	3	1	1	1	2	4	3	3	3	3	2	1	0	3	2	1	0			TCGA-J4-A83M-01A-11D-A34U-08	TCGA-J4-A83M-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9da3aab7-ebaa-437d-baab-a11571b586d6	a57c0f87-eec2-4a38-998d-294959df3d34	g.chr5:143853387G>T	ENST00000507359.3	+	3	2088	c.997G>T	c.(997-999)Gtg>Ttg	p.V333L	KCTD16_ENST00000512467.1_Missense_Mutation_p.V333L	NM_020768.3	NP_065819.1	Q68DU8	KCD16_HUMAN	potassium channel tetramerization domain containing 16	333					protein homooligomerization (GO:0051260)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|receptor complex (GO:0043235)				large_intestine(5)|lung(9)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	21		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176)			CTGTGGTCCCGTGACACGCCA	0.587																																						ENST00000507359.2																			0				large_intestine(5)|lung(9)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	21						c.(997-999)Gtg>Ttg		potassium channel tetramerization domain containing 16							87	81	83					5																	143853387		2203	4300	6503	SO:0001583	missense	57528					cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr5:143853387G>T	AB037738	CCDS34260.1	5q32	2013-06-20	2013-06-20		ENSG00000183775	ENSG00000183775			29244	protein-coding gene	gene with protein product		613423	"potassium channel tetramerisation domain containing 16"			10718198	Standard	NM_020768		Approved	KIAA1317	uc003lnm.1	Q68DU8	OTTHUMG00000163172	ENST00000507359.3:c.997G>T	5.37:g.143853387G>T	ENSP00000426548:p.Val333Leu					KCTD16_ENST00000512467.1_Missense_Mutation_p.V333L	p.V333L	NM_020768.3	NP_065819.1	Q68DU8	KCD16_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176)		3	2088	+		all_hematologic(541;0.118)	333					Q9P2M9	Missense_Mutation	SNP	ENST00000507359.3	37	c.997G>T	CCDS34260.1	.	.	.	.	.	.	.	.	.	.	G	25.2	4.609002	0.87258	.	.	ENSG00000183775	ENST00000512467;ENST00000507359	T;T	0.44482	0.92;0.92	6.17	6.17	0.99709	.	0.000000	0.64402	D	0.000001	T	0.51007	0.1649	N	0.14661	0.345	0.58432	D	0.999998	D	0.63880	0.993	D	0.69479	0.964	T	0.55127	-0.8189	10	0.66056	D	0.02	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	333	Q68DU8	KCD16_HUMAN	L	333	ENSP00000424151:V333L;ENSP00000426548:V333L	ENSP00000426548:V333L	V	+	1	0	KCTD16	143833580	1.000000	0.71417	0.972000	0.41901	0.973000	0.67179	9.363000	0.97131	2.941000	0.99782	0.655000	0.94253	GTG		0.587	KCTD16-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371898.3	XM_098368		3	46	1	0	0.150653	1	0.156034	3	46					T	143853387	G	T	143853387	3	4	280	1	0	0	0	0	1	0	0	0	8103	1145	40	5	1003	5	KCTD16	5	143853387	Missense_Mutation	SNP	G	TCGA-J4-A83M-01A-11D-A34U-08	110194998	143853387	37061873	14	12932											
ATP10B	23120	broad.mit.edu	37	chr5	160061406	160061406	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcccatgatggtgcaacgtcGgaacaccatcttgttctctg	8	11	10	12	2	2	1	0	1	2	0	4	2	2	2	2	2	3	2	2	2	2	2			TCGA-J4-A83M-01A-11D-A34U-08	TCGA-J4-A83M-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9da3aab7-ebaa-437d-baab-a11571b586d6	a57c0f87-eec2-4a38-998d-294959df3d34	g.chr5:160061406G>A	ENST00000327245.5	-	12	2182	c.1336C>T	c.(1336-1338)Cga>Tga	p.R446*	CTC-348L5.1_ENST00000523598.1_RNA	NM_025153.2	NP_079429.2	O94823	AT10B_HUMAN	ATPase, class V, type 10B	446					phospholipid translocation (GO:0045332)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GTGCAACGTCGGAACACCATC	0.502																																						ENST00000327245.5																			0				NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75						c.(1336-1338)Cga>Tga		ATPase, class V, type 10B							130	130	130					5																	160061406		1968	4154	6122	SO:0001587	stop_gained	23120				ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr5:160061406G>A	AB018258	CCDS43394.1	5q34	2010-04-20	2007-09-19		ENSG00000118322	ENSG00000118322		"ATPases / P-type"	13543	protein-coding gene	gene with protein product			"ATPase, Class V, type 10B"			9872452, 11015572	Standard	NM_025153		Approved	ATPVB, KIAA0715, FLJ21477	uc003lym.1	O94823	OTTHUMG00000163551	ENST00000327245.5:c.1336C>T	5.37:g.160061406G>A	ENSP00000313600:p.Arg446*					CTC-348L5.1_ENST00000523598.1_RNA	p.R446*	NM_025153.2	NP_079429.2	O94823	AT10B_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		12	2182	-	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	446					Q9H725	Nonsense_Mutation	SNP	ENST00000327245.5	37	c.1336C>T	CCDS43394.1	.	.	.	.	.	.	.	.	.	.	G	46	12.956525	0.99709	.	.	ENSG00000118322	ENST00000327245;ENST00000520108	.	.	.	5.53	2.7	0.31948	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.1362	0.65289	0.0:0.0:0.611:0.389	.	.	.	.	X	446;54	.	.	R	-	1	2	ATP10B	159993984	1.000000	0.71417	0.180000	0.23079	0.897000	0.52465	2.547000	0.45786	0.261000	0.21753	0.655000	0.94253	CGA		0.502	ATP10B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374127.1	NM_025153		5	112	0	0	0	1	0	5	112					A	160061406	G	A	160061406	4	1	280	1	0	0	0	0	0	1	0	0	1117	1124	39	2	3109	2	ATP10B	5	160061406	Nonsense_Mutation	SNP	G	TCGA-J4-A83M-01A-11D-A34U-08	16208019	160061406	20853854	15	12933											
PDE1C	5137	broad.mit.edu	37	chr7	31920468	31920468	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctaattgtttgaccaaagacCgtaatctagaaaaataaaaa	20	10	5	6	1	1	3	0	1	1	2	1	3	1	3	2	0	0	2	2	0	9	6			TCGA-J4-A83M-01A-11D-A34U-08	TCGA-J4-A83M-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9da3aab7-ebaa-437d-baab-a11571b586d6	a57c0f87-eec2-4a38-998d-294959df3d34	g.chr7:31920468C>T	ENST00000396191.1	-	3	589	c.134G>A	c.(133-135)cGg>cAg	p.R45Q	PDE1C_ENST00000321453.7_Missense_Mutation_p.R45Q|PDE1C_ENST00000396182.2_Missense_Mutation_p.R45Q|PDE1C_ENST00000396193.1_Missense_Mutation_p.R105Q|PDE1C_ENST00000396184.3_Missense_Mutation_p.R45Q	NM_001191057.1	NP_001177986.1	Q14123	PDE1C_HUMAN	phosphodiesterase 1C, calmodulin-dependent 70kDa	45					activation of phospholipase C activity (GO:0007202)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|metabolic process (GO:0008152)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)	cytosol (GO:0005829)	calmodulin-dependent cyclic-nucleotide phosphodiesterase activity (GO:0004117)|metal ion binding (GO:0046872)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	81			GBM - Glioblastoma multiforme(11;0.216)		Caffeine(DB00201)	GACCAAAGACCGTAATCTAGA	0.328																																						ENST00000396184.3																			0				NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	81						c.(133-135)cGg>cAg		phosphodiesterase 1C, calmodulin-dependent 70kDa							111	107	108					7																	31920468		2203	4300	6503	SO:0001583	missense	5137				activation of phospholipase C activity|nerve growth factor receptor signaling pathway	cytosol	calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding	g.chr7:31920468C>T	U40371	CCDS5437.1, CCDS55099.1, CCDS55100.1	7p15.1-p14.3	2008-05-15	2002-08-29		ENSG00000154678	ENSG00000154678	3.1.4.17	"Phosphodiesterases"	8776	protein-coding gene	gene with protein product		602987	"phosphodiesterase 1C, calmodulin-dependent (70kD)"			8557689	Standard	XM_005249769		Approved	Hcam3	uc003tco.2	Q14123	OTTHUMG00000023836	ENST00000396191.1:c.134G>A	7.37:g.31920468C>T	ENSP00000379494:p.Arg45Gln					PDE1C_ENST00000396182.2_Missense_Mutation_p.R45Q|PDE1C_ENST00000396191.1_Missense_Mutation_p.R45Q|PDE1C_ENST00000396193.1_Missense_Mutation_p.R105Q|PDE1C_ENST00000321453.7_Missense_Mutation_p.R45Q	p.R45Q	NM_005020.2	NP_005011.1	Q14123	PDE1C_HUMAN	GBM - Glioblastoma multiforme(11;0.216)		4	338	-			45					B3KPC6|E9PE92|Q14124|Q8NB10	Missense_Mutation	SNP	ENST00000396191.1	37	c.134G>A	CCDS55099.1	.	.	.	.	.	.	.	.	.	.	C	33	5.195039	0.94960	.	.	ENSG00000154678	ENST00000396193;ENST00000396191;ENST00000321453;ENST00000396184;ENST00000396182;ENST00000396189	T;T;T;T;T	0.80393	-1.37;-1.23;-1.23;-1.15;-1.15	5.43	5.43	0.79202	.	0.466541	0.24922	N	0.034522	D	0.89210	0.6650	M	0.72894	2.215	0.58432	D	0.999999	D;D;D	0.89917	0.997;1.0;0.999	D;D;P	0.68353	0.918;0.957;0.851	D	0.89663	0.3878	10	0.72032	D	0.01	.	19.1911	0.93667	0.0:1.0:0.0:0.0	.	45;105;45	Q14123-2;E9PE92;Q14123	.;.;PDE1C_HUMAN	Q	105;45;45;45;45;45	ENSP00000379496:R105Q;ENSP00000379494:R45Q;ENSP00000318105:R45Q;ENSP00000379487:R45Q;ENSP00000379485:R45Q	ENSP00000318105:R45Q	R	-	2	0	PDE1C	31886993	1.000000	0.71417	0.985000	0.45067	0.624000	0.37722	7.752000	0.85141	2.713000	0.92767	0.591000	0.81541	CGG		0.328	PDE1C-006	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000328458.1			7	72	0	0	0	1	0	7	72					T	31920468	C	T	31920468	3	4	280	1	0	0	0	0	1	0	0	0	11635	652	23	2	1830	2	PDE1C	7	31920468	Missense_Mutation	SNP	C	TCGA-J4-A83M-01A-11D-A34U-08		31920468	127218195	16	12934											
CCDC146	57639	broad.mit.edu	37	chr7	76885704	76885704	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcactgaagaattacgtaaaGaaataatgcagaagaaatta	21	8	8	4	1	0	5	0	1	0	4	0	5	0	5	0	0	2	3	0	0	10	4			TCGA-J4-A83M-01A-11D-A34U-08	TCGA-J4-A83M-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9da3aab7-ebaa-437d-baab-a11571b586d6	a57c0f87-eec2-4a38-998d-294959df3d34	g.chr7:76885704G>T	ENST00000285871.4	+	6	689	c.562G>T	c.(562-564)Gaa>Taa	p.E188*	CCDC146_ENST00000431197.1_5'UTR|AC073635.5_ENST00000476561.2_RNA	NM_020879.2	NP_065930.2	Q8IYE0	CC146_HUMAN	coiled-coil domain containing 146	188										breast(3)|central_nervous_system(3)|endometrium(1)|kidney(4)|large_intestine(7)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	34		all_cancers(73;0.128)|all_lung(88;0.0986)|all_epithelial(88;0.163)|Myeloproliferative disorder(862;0.205)				ATTACGTAAAGAAATAATGCA	0.294																																						ENST00000285871.4																			0				breast(3)|central_nervous_system(3)|endometrium(1)|kidney(4)|large_intestine(7)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	34						c.(562-564)Gaa>Taa		coiled-coil domain containing 146							45	47	46					7																	76885704		2203	4296	6499	SO:0001587	stop_gained	57639							g.chr7:76885704G>T	BC029458	CCDS34671.1	7q11.23	2011-09-07			ENSG00000135205	ENSG00000135205			29296	protein-coding gene	gene with protein product						10819331	Standard	NM_020879		Approved	KIAA1505	uc003uga.3	Q8IYE0	OTTHUMG00000162595	ENST00000285871.4:c.562G>T	7.37:g.76885704G>T	ENSP00000285871:p.Glu188*					CCDC146_ENST00000431197.1_5'UTR|AC073635.5_ENST00000476561.2_RNA	p.E188*	NM_020879.2	NP_065930.2	Q8IYE0	CC146_HUMAN			6	689	+		all_cancers(73;0.128)|all_lung(88;0.0986)|all_epithelial(88;0.163)|Myeloproliferative disorder(862;0.205)	188					A8K8X6|Q9P223	Nonsense_Mutation	SNP	ENST00000285871.4	37	c.562G>T	CCDS34671.1	.	.	.	.	.	.	.	.	.	.	G	38	6.857808	0.97889	.	.	ENSG00000135205	ENST00000285871	.	.	.	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.51188	T	0.08	-24.2753	19.1462	0.93469	0.0:0.0:1.0:0.0	.	.	.	.	X	188	.	ENSP00000285871:E188X	E	+	1	0	AC007000.1	76723640	1.000000	0.71417	0.992000	0.48379	0.984000	0.73092	6.678000	0.74508	2.817000	0.96982	0.563000	0.77884	GAA		0.294	CCDC146-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341449.1	NM_020879		6	26	1	0	0.217242	1	0.221053	6	26					T	76885704	G	T	76885704	4	4	280	1	0	0	0	0	0	1	0	0	2780	943	33	5	580	5	CCDC146	7	76885704	Nonsense_Mutation	SNP	G	TCGA-J4-A83M-01A-11D-A34U-08	44965236	76885704	82252959	17	12935											
PCLO	27445	broad.mit.edu	37	chr7	82580216	82580216	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctccaattcctcagcaaagcGctgttgcttaattttctcca	9	14	5	13	1	2	0	1	0	1	0	5	0	4	0	3	0	3	4	3	0	3	5	rs372228421		TCGA-J4-A83M-01A-11D-A34U-08	TCGA-J4-A83M-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9da3aab7-ebaa-437d-baab-a11571b586d6	a57c0f87-eec2-4a38-998d-294959df3d34	g.chr7:82580216G>A	ENST00000333891.9	-	6	10025	c.9688C>T	c.(9688-9690)Cgc>Tgc	p.R3230C	PCLO_ENST00000423517.2_Missense_Mutation_p.R3230C|PCLO_ENST00000437081.1_5'Flank	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein											breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TCAGCAAAGCGCTGTTGCTTA	0.438																																						ENST00000423517.2																			0				breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						c.(9688-9690)Cgc>Tgc		piccolo presynaptic cytomatrix protein		G	CYS/ARG,CYS/ARG	1,3711		0,1,1855	67	65	66		9688,9688	4.6	1	7		66	1,8209		0,1,4104	no	missense,missense	PCLO	NM_014510.2,NM_033026.5	180,180	0,2,5959	AA,AG,GG		0.0122,0.0269,0.0168	possibly-damaging,possibly-damaging	3230/4936,3230/5143	82580216	2,11920	1856	4105	5961	SO:0001583	missense	27445				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	g.chr7:82580216G>A	AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"aczonin"	604918	"piccolo (presynaptic cytomatrix protein)"			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.9688C>T	7.37:g.82580216G>A	ENSP00000334319:p.Arg3230Cys					PCLO_ENST00000333891.8_Missense_Mutation_p.R3230C	p.R3230C	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN			6	10025	-			3161			Gln-rich.			Missense_Mutation	SNP	ENST00000333891.9	37	c.9688C>T	CCDS47630.1	.	.	.	.	.	.	.	.	.	.	G	0.034	-1.318314	0.01320	2.69E-4	1.22E-4	ENSG00000186472	ENST00000431819;ENST00000333891;ENST00000423517	T;T	0.27557	1.66;1.68	5.45	4.56	0.56223	.	.	.	.	.	T	0.26304	0.0642	L	0.55213	1.73	0.80722	D	1	B;P;P	0.36249	0.002;0.545;0.545	B;B;B	0.22386	0.001;0.039;0.039	T	0.09907	-1.0653	9	0.87932	D	0	.	12.9995	0.58667	0.0:0.0:0.706:0.294	.	3161;3230;3230	Q9Y6V0;Q9Y6V0-5;Q9Y6V0-6	PCLO_HUMAN;.;.	C	3161;3230;3230	ENSP00000334319:R3230C;ENSP00000388393:R3230C	ENSP00000334319:R3230C	R	-	1	0	PCLO	82418152	1.000000	0.71417	0.997000	0.53966	0.022000	0.10575	2.955000	0.49121	1.288000	0.44600	-0.521000	0.04368	CGC		0.438	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510		14	37	0	0	0	1	0	14	37					A	82580216	G	A	82580216	3	1	280	1	0	0	0	0	1	0	0	0	11583	1087	38	1	5837	1	PCLO	7	82580216	Missense_Mutation	SNP	G	TCGA-J4-A83M-01A-11D-A34U-08	5694512	82580216	76558447	18	12936											
PON3	5446	broad.mit.edu	37	chr7	94996690	94996690	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ataccttttgagaagttcatGttttatagttttcaggtata	11	19	7	4	0	2	1	2	1	0	1	2	2	2	1	1	1	1	4	1	1	6	11			TCGA-J4-A83M-01A-11D-A34U-08	TCGA-J4-A83M-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9da3aab7-ebaa-437d-baab-a11571b586d6	a57c0f87-eec2-4a38-998d-294959df3d34	g.chr7:94996690G>T	ENST00000265627.5	-	5	488	c.478C>A	c.(478-480)Cat>Aat	p.H160N	PON3_ENST00000451904.1_Missense_Mutation_p.H160N|PON1_ENST00000542556.1_Intron|PON3_ENST00000427422.1_Missense_Mutation_p.H160N	NM_000940.2	NP_000931.1	Q15166	PON3_HUMAN	paraoxonase 3	160					aromatic compound catabolic process (GO:0019439)|carboxylic acid catabolic process (GO:0046395)|coumarin catabolic process (GO:0046226)|phenylacetate catabolic process (GO:0010124)|response to external stimulus (GO:0009605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)	3,4-dihydrocoumarin hydrolase activity (GO:0018733)|aryldialkylphosphatase activity (GO:0004063)|arylesterase activity (GO:0004064)|dihydrocoumarin hydrolase activity (GO:0047856)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(2)	24	all_cancers(62;1.04e-10)|all_epithelial(64;3.67e-09)|Lung NSC(181;0.239)		STAD - Stomach adenocarcinoma(171;0.0151)		Edetic Acid(DB00974)|Lovastatin(DB00227)	AGAAGTTCATGTTTTATAGTT	0.368																																						ENST00000265627.5																			0				breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(2)	24						c.(478-480)Cat>Aat		paraoxonase 3							121	122	122					7																	94996690		2203	4300	6503	SO:0001583	missense	5446							g.chr7:94996690G>T	L48516, AF320003	CCDS5639.1	7q21.3	2014-03-14			ENSG00000105852	ENSG00000105852	3.1.1.2	"Paraoxonases"	9206	protein-coding gene	gene with protein product	"arylesterase 3"	602720				8661009	Standard	NM_000940		Approved			Q15166	OTTHUMG00000153917	ENST00000265627.5:c.478C>A	7.37:g.94996690G>T	ENSP00000265627:p.His160Asn					PON1_ENST00000542556.1_Intron|PON3_ENST00000427422.1_Missense_Mutation_p.H160N	p.H160N	NM_000940.2	NP_000931.1			STAD - Stomach adenocarcinoma(171;0.0151)		5	488	-	all_cancers(62;1.04e-10)|all_epithelial(64;3.67e-09)|Lung NSC(181;0.239)							A4D1H8|O75855|O76060|Q6IRU9|Q8IX97|Q9BZH9	Missense_Mutation	SNP	ENST00000265627.5	37	c.478C>A	CCDS5639.1	.	.	.	.	.	.	.	.	.	.	G	14.31	2.498158	0.44455	.	.	ENSG00000105852	ENST00000265627;ENST00000427422	T;T	0.16457	2.34;2.34	4.78	4.78	0.61160	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.85682	D	0.000000	T	0.46737	0.1408	M	0.83118	2.625	0.80722	D	1	D;D	0.76494	0.997;0.999	D;D	0.77004	0.989;0.966	T	0.50415	-0.8831	10	0.59425	D	0.04	-21.7234	17.9931	0.89175	0.0:0.0:1.0:0.0	.	208;160	B4E2I0;Q15166	.;PON3_HUMAN	N	160	ENSP00000265627:H160N;ENSP00000413276:H160N	ENSP00000265627:H160N	H	-	1	0	PON3	94834626	1.000000	0.71417	0.808000	0.32385	0.011000	0.07611	8.645000	0.91049	2.669000	0.90835	0.585000	0.79938	CAT		0.368	PON3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333007.1	NM_000940		5	94	1	0	0.00116845	1	0.00130327	5	94					T	94996690	G	T	94996690	3	4	280	1	0	0	0	0	1	0	0	0	12250	1377	48	5	606	5	PON3	7	94996690	Missense_Mutation	SNP	G	TCGA-J4-A83M-01A-11D-A34U-08	12416474	94996690	64141973	19	12937											
GIMAP4	55303	broad.mit.edu	37	chr7	150269711	150269711	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgatggacattttcggtgacCgctactgtgcgttaaacaac	10	12	10	9	3	0	2	0	2	0	0	1	3	0	3	1	2	4	2	1	2	4	4			TCGA-J4-A83M-01A-11D-A34U-08	TCGA-J4-A83M-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9da3aab7-ebaa-437d-baab-a11571b586d6	a57c0f87-eec2-4a38-998d-294959df3d34	g.chr7:150269711C>T	ENST00000255945.2	+	3	728	c.553C>T	c.(553-555)Cgc>Tgc	p.R185C	GIMAP4_ENST00000461940.1_Missense_Mutation_p.R199C|GIMAP4_ENST00000494750.1_3'UTR	NM_018326.2	NP_060796.1	Q9NUV9	GIMA4_HUMAN	GTPase, IMAP family member 4	185	AIG1-type G.					cytosol (GO:0005829)	GTP binding (GO:0005525)			breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(82;0.0179)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TTTCGGTGACCGCTACTGTGC	0.517																																						ENST00000255945.2																			0				breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	14						c.(553-555)Cgc>Tgc		GTPase, IMAP family member 4							99	99	99					7																	150269711		2203	4300	6503	SO:0001583	missense	55303						GTP binding	g.chr7:150269711C>T	AK001972	CCDS5904.1	7q36.1	2014-04-04			ENSG00000133574	ENSG00000133574		"GTPases, IMAP"	21872	protein-coding gene	gene with protein product	"immune-associated nucleotide-binding protein 1"	608087				15474311, 18701445	Standard	NM_018326		Approved	HIMAP4, FLJ11110, IMAP4, IAN1	uc003whl.3	Q9NUV9	OTTHUMG00000157475	ENST00000255945.2:c.553C>T	7.37:g.150269711C>T	ENSP00000255945:p.Arg185Cys					GIMAP4_ENST00000461940.1_Missense_Mutation_p.R199C|GIMAP4_ENST00000494750.1_3'UTR	p.R185C	NM_018326.2	NP_060796.1	Q9NUV9	GIMA4_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0179)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	3	728	+			185						Missense_Mutation	SNP	ENST00000255945.2	37	c.553C>T	CCDS5904.1	.	.	.	.	.	.	.	.	.	.	C	15.84	2.951952	0.53293	.	.	ENSG00000133574	ENST00000255945;ENST00000461940;ENST00000466938	T;T	0.22945	1.93;1.93	4.72	3.76	0.43208	AIG1 (1);	0.059132	0.64402	D	0.000002	T	0.57198	0.2037	H	0.94423	3.535	0.09310	N	0.999995	D;D	0.89917	1.0;0.995	D;D	0.74023	0.982;0.911	T	0.54866	-0.8229	10	0.87932	D	0	.	9.1422	0.36910	0.2337:0.7663:0.0:0.0	.	199;185	G5E9W9;Q9NUV9	.;GIMA4_HUMAN	C	185;199;117	ENSP00000255945:R185C;ENSP00000419545:R199C	ENSP00000255945:R185C	R	+	1	0	GIMAP4	149900644	0.001000	0.12720	0.168000	0.22838	0.002000	0.02628	0.149000	0.16243	2.473000	0.83533	0.655000	0.94253	CGC		0.517	GIMAP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348927.1	NM_018326		6	90	0	0	0	1	0	6	90					T	150269711	C	T	150269711	3	4	280	1	0	0	0	0	1	0	0	0	6381	652	23	2	559	2	GIMAP4	7	150269711	Missense_Mutation	SNP	C	TCGA-J4-A83M-01A-11D-A34U-08	55273021	150269711	8868952	20	12938											
GPR124	25960	broad.mit.edu	37	chr8	37654983	37654983	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggcccggctcggcggagggTggtgtgcagcggcggggacc	3	5	22	11	5	0	0	0	0	0	0	1	2	0	2	2	9	2	2	2	9	0	0			TCGA-J4-A83M-01A-11D-A34U-08	TCGA-J4-A83M-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9da3aab7-ebaa-437d-baab-a11571b586d6	a57c0f87-eec2-4a38-998d-294959df3d34	g.chr8:37654983T>G	ENST00000412232.2	+	1	210	c.197T>G	c.(196-198)gTg>gGg	p.V66G	GPR124_ENST00000315215.7_Missense_Mutation_p.V66G	NM_032777.9	NP_116166.9	Q96PE1	GP124_HUMAN	G protein-coupled receptor 124	66	LRRNT.				central nervous system development (GO:0007417)|endothelial cell migration (GO:0043542)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of vascular endothelial growth factor signaling pathway (GO:1900747)|neuropeptide signaling pathway (GO:0007218)|positive regulation of endothelial cell migration (GO:0010595)|regulation of angiogenesis (GO:0045765)|regulation of chemotaxis (GO:0050920)|regulation of establishment of blood-brain barrier (GO:0090210)|sprouting angiogenesis (GO:0002040)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(16)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	37			BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)			CGGCGGAGGGTGGTGTGCAGC	0.736																																						ENST00000315215.7																			0				central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(16)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	37						c.(196-198)gTg>gGg		G protein-coupled receptor 124							4	5	5					8																	37654983		1458	3102	4560	SO:0001583	missense	25960				central nervous system development|endothelial cell migration|neuropeptide signaling pathway|regulation of angiogenesis|regulation of chemotaxis|sprouting angiogenesis	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr8:37654983T>G	AB040964	CCDS6097.2	8p11.22	2014-08-08			ENSG00000020181	ENSG00000020181		"-", "GPCR / Class B : Orphans", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	17849	protein-coding gene	gene with protein product	"tumor endothelial marker 5"	606823				11559528, 12565841	Standard	NM_032777		Approved	TEM5, DKFZp434C211, DKFZp434J0911, KIAA1531, FLJ14390	uc003xkj.3	Q96PE1	OTTHUMG00000156182	ENST00000412232.2:c.197T>G	8.37:g.37654983T>G	ENSP00000406367:p.Val66Gly					GPR124_ENST00000412232.2_Missense_Mutation_p.V66G	p.V66G			Q96PE1	GP124_HUMAN	BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)		1	560	+			66			LRRNT.		A6H8W3|D3DSW4|Q8N3R1|Q8TEM3|Q96KB2|Q9P1Z7|Q9UFY4	Missense_Mutation	SNP	ENST00000412232.2	37	c.197T>G	CCDS6097.2	.	.	.	.	.	.	.	.	.	.	T	18.91	3.722842	0.68959	.	.	ENSG00000020181	ENST00000416514;ENST00000315215;ENST00000412232	T;T	0.65364	-0.15;-0.06	4.61	4.61	0.57282	.	0.000000	0.37715	U	0.001977	T	0.69287	0.3094	L	0.32530	0.975	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.997	T	0.72921	-0.4145	10	0.87932	D	0	-17.1848	12.9829	0.58575	0.0:0.0:0.0:1.0	.	66;66	Q96PE1-2;Q96PE1	.;GP124_HUMAN	G	59;66;66	ENSP00000323508:V66G;ENSP00000406367:V66G	ENSP00000323508:V66G	V	+	2	0	GPR124	37774141	1.000000	0.71417	1.000000	0.80357	0.822000	0.46500	4.539000	0.60657	1.695000	0.51148	0.459000	0.35465	GTG		0.736	GPR124-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343331.2			3	0	0	0	0	1	0	3	0					G	37654983	T	G	37654983	3	3	280	1	0	0	0	0	1	0	0	0	6638	1696	59	5	178	5	GPR124	8	37654983	Missense_Mutation	SNP	T	TCGA-J4-A83M-01A-11D-A34U-08		37654983	108709039	21	12939											
TP53INP1	94241	broad.mit.edu	37	chr8	95952206	95952206	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttcaatgagaaggttttccaTaggacttgtttccaccttga	10	15	8	8	0	1	2	1	2	0	1	3	4	3	3	3	2	0	2	3	2	3	7	rs201012799		TCGA-J4-A83M-01A-11D-A34U-08	TCGA-J4-A83M-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9da3aab7-ebaa-437d-baab-a11571b586d6	a57c0f87-eec2-4a38-998d-294959df3d34	g.chr8:95952206T>C	ENST00000342697.4	-	3	762	c.355A>G	c.(355-357)Atg>Gtg	p.M119V	TP53INP1_ENST00000378776.4_Missense_Mutation_p.M119V|TP53INP1_ENST00000448464.2_Missense_Mutation_p.M119V|NDUFAF6_ENST00000396113.1_Intron	NM_033285.3	NP_150601.1	Q96A56	T53I1_HUMAN	tumor protein p53 inducible nuclear protein 1	119					apoptotic process (GO:0006915)|autophagic cell death (GO:0048102)|autophagy (GO:0006914)|cell cycle arrest (GO:0007050)|cellular response to ethanol (GO:0071361)|cellular response to hydroperoxide (GO:0071447)|cellular response to methyl methanesulfonate (GO:0072703)|cellular response to UV (GO:0034644)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of autophagy (GO:0010508)|positive regulation of transcription, DNA-templated (GO:0045893)|response to heat (GO:0009408)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	autophagic vacuole (GO:0005776)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|nucleus (GO:0005634)	antioxidant activity (GO:0016209)			kidney(2)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	9	Breast(36;8.75e-07)					AGGTTTTCCATAGGACTTGTT	0.488													T|||	1	0.000199681	0	0	5008	,	,		21861	0		0	False		,,,				2504	0.001					ENST00000342697.4																			0				kidney(2)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	9						c.(355-357)Atg>Gtg		tumor protein p53 inducible nuclear protein 1		T	VAL/MET,VAL/MET	0,4406		0,0,2203	168	144	152		355,355	0	1	8		152	2,8598	2.2+/-6.3	0,2,4298	yes	missense,missense	TP53INP1	NM_001135733.1,NM_033285.3	21,21	0,2,6501	CC,CT,TT		0.0233,0.0,0.0154	benign,benign	119/165,119/241	95952206	2,13004	2203	4300	6503	SO:0001583	missense	0				apoptosis	PML body		g.chr8:95952206T>C	AF409115	CCDS6265.1, CCDS47899.1	8q22	2004-03-11				ENSG00000164938			18022	protein-coding gene	gene with protein product		606185				11511362, 12438758	Standard	NM_033285		Approved	DKFZp434M1317, FLJ22139, P53DINP1, SIP, TP53INP1A, TP53INP1B, Teap	uc003yhg.3	Q96A56		ENST00000342697.4:c.355A>G	8.37:g.95952206T>C	ENSP00000344215:p.Met119Val					NDUFAF6_ENST00000396113.1_Intron|TP53INP1_ENST00000448464.2_Missense_Mutation_p.M119V|TP53INP1_ENST00000378776.4_Missense_Mutation_p.M119V	p.M119V	NM_033285.3	NP_150601.1	Q96A56	T53I1_HUMAN			3	762	-	Breast(36;8.75e-07)		119					B2RCE5|Q969R9	Missense_Mutation	SNP	ENST00000342697.4	37	c.355A>G	CCDS6265.1	.	.	.	.	.	.	.	.	.	.	T	13.01	2.108309	0.37242	0.0	2.33E-4	ENSG00000164938	ENST00000448464;ENST00000342697;ENST00000378776	T;T;T	0.49720	0.77;0.77;0.77	6.17	0.0339	0.14181	.	0.215020	0.56097	D	0.000026	T	0.41949	0.1181	M	0.66939	2.045	0.30046	N	0.812225	B;B	0.23806	0.038;0.091	B;B	0.23419	0.033;0.046	T	0.45920	-0.9228	10	0.66056	D	0.02	-8.4663	8.488	0.33082	0.1737:0.0:0.2772:0.5492	.	119;119	Q96A56-2;Q96A56	.;T53I1_HUMAN	V	119	ENSP00000390063:M119V;ENSP00000344215:M119V;ENSP00000368052:M119V	ENSP00000344215:M119V	M	-	1	0	TP53INP1	96021382	0.863000	0.29885	0.993000	0.49108	0.997000	0.91878	1.123000	0.31308	0.139000	0.18822	0.533000	0.62120	ATG		0.488	TP53INP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379818.1			10	45	0	0	0	1	0	10	45					C	95952206	T	C	95952206	3	2	280	1	0	0	0	0	1	0	0	0	16385	1406	49	4	401	4	TP53INP1	8	95952206	Missense_Mutation	SNP	T	TCGA-J4-A83M-01A-11D-A34U-08	58297223	95952206	50411816	22	12940											
CBWD6	644019	broad.mit.edu	37	chr9	69238296	69238296	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgttttattaatgagaatgAtatctgccaaagcaacttgc	13	14	7	7	0	1	2	0	2	1	1	1	3	1	2	1	0	4	2	1	0	6	5			TCGA-J4-A83M-01A-11D-A34U-08	TCGA-J4-A83M-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9da3aab7-ebaa-437d-baab-a11571b586d6	a57c0f87-eec2-4a38-998d-294959df3d34	g.chr9:69238296A>C	ENST00000377457.5	-	8	701	c.596T>G	c.(595-597)aTc>aGc	p.I199S	CBWD6_ENST00000382399.4_Missense_Mutation_p.I179S|CBWD6_ENST00000377449.1_Missense_Mutation_p.I163S	NM_001085457.1	NP_001078926.1	Q4V339	CBWD6_HUMAN	COBW domain containing 6	199							ATP binding (GO:0005524)			lung(4)	4						AATGAGAATGATATCTGCCAA	0.308																																						ENST00000377457.5																			0				lung(4)	4						c.(595-597)aTc>aGc		COBW domain containing 6							95	135	120					9																	69238296		1332	2285	3617	SO:0001583	missense	644019						ATP binding	g.chr9:69238296A>C		CCDS43827.1	9q13	2006-06-30			ENSG00000204790	ENSG00000204790			31978	protein-coding gene	gene with protein product							Standard	NM_001085457		Approved	OTTHUMG00000066820	uc004afj.4	Q4V339	OTTHUMG00000066820	ENST00000377457.5:c.596T>G	9.37:g.69238296A>C	ENSP00000366677:p.Ile199Ser					CBWD6_ENST00000382399.4_Missense_Mutation_p.I179S|CBWD6_ENST00000377449.1_Missense_Mutation_p.I163S	p.I199S	NM_001085457.1	NP_001078926.1	Q4V339	CBWD6_HUMAN			8	701	-			199						Missense_Mutation	SNP	ENST00000377457.5	37	c.596T>G	CCDS43827.1	.	.	.	.	.	.	.	.	.	.	.	10.33	1.320341	0.23994	.	.	ENSG00000204790	ENST00000377457;ENST00000377449;ENST00000382399;ENST00000377445	T;T;T	0.52057	0.68;0.68;0.68	2.49	2.49	0.30216	Cobalamin (vitamin B12) biosynthesis CobW-like (1);	0.266919	0.35615	N	0.003084	T	0.45397	0.1340	M	0.62209	1.925	0.29652	N	0.843866	B	0.23316	0.083	B	0.32289	0.143	T	0.52381	-0.8583	10	0.72032	D	0.01	-9.2062	8.5159	0.33246	1.0:0.0:0.0:0.0	.	199	Q4V339	CBWD6_HUMAN	S	199;163;179;199	ENSP00000366677:I199S;ENSP00000366668:I163S;ENSP00000371836:I179S	ENSP00000366664:I199S	I	-	2	0	CBWD6	68528116	1.000000	0.71417	0.997000	0.53966	0.568000	0.35870	6.532000	0.73825	1.150000	0.42419	0.155000	0.16302	ATC		0.308	CBWD6-001	KNOWN	non_canonical_polymorphism|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143172.2	XM_928822		11	152	0	0	0	1	0	11	152					C	69238296	A	C	69238296	3	2	280	1	0	0	0	0	1	0	0	0	2716	333	12	5	623	5	CBWD6	9	69238296	Missense_Mutation	SNP	A	TCGA-J4-A83M-01A-11D-A34U-08		69238296	71975135	23	12941											
NPDC1	56654	broad.mit.edu	37	chr9	139935547	139935547	+	Frame_Shift_Del	DEL	G	G	-																															ccgctgtcggtccttgggtaGgggcggagttgagtgtccag																										TCGA-J4-A83M-01A-11D-A34U-08	TCGA-J4-A83M-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9da3aab7-ebaa-437d-baab-a11571b586d6	a57c0f87-eec2-4a38-998d-294959df3d34	g.chr9:139935547delG	ENST00000371601.4	-	3	565	c.352delC	c.(352-354)ctafs	p.L118fs	NPDC1_ENST00000488145.1_5'UTR|NPDC1_ENST00000371600.3_Frame_Shift_Del_p.L196fs	NM_015392.3	NP_056207.3	Q9NQX5	NPDC1_HUMAN	neural proliferation, differentiation and control, 1	118						integral component of membrane (GO:0016021)				NS(1)|large_intestine(1)|lung(1)|prostate(1)|urinary_tract(1)	5	all_cancers(76;0.0926)	Myeloproliferative disorder(178;0.0821)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.96e-05)|Epithelial(140;0.000486)		TCCTTGGGTAGGGGCGGAGTT	0.672																																						ENST00000371600.3																			0				NS(1)|large_intestine(1)|lung(1)|prostate(1)|urinary_tract(1)	5						c.(586-588)tafs		neural proliferation, differentiation and control, 1							36	37	37					9																	139935547		2194	4296	6490	SO:0001589	frameshift_variant	56654					integral to membrane		g.chr9:139935547delG	AF285836	CCDS7024.1	9q34.3	2008-07-21			ENSG00000107281	ENSG00000107281			7899	protein-coding gene	gene with protein product		605798				11245976	Standard	NM_015392		Approved	DKFZp586J0523, CAB-, CAB1	uc004ckt.2	Q9NQX5	OTTHUMG00000020956	ENST00000371601.4:c.352delC	9.37:g.139935547delG	ENSP00000360660:p.Leu118fs					NPDC1_ENST00000488145.1_5'UTR|NPDC1_ENST00000371601.4_Frame_Shift_Del_p.L118fs	p.L196fs			Q9NQX5	NPDC1_HUMAN	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.96e-05)|Epithelial(140;0.000486)	2	1258	-	all_cancers(76;0.0926)	Myeloproliferative disorder(178;0.0821)	118					Q5SPY8|Q9BTD6|Q9BXT3|Q9NQS2|Q9Y434	Frame_Shift_Del	DEL	ENST00000371601.4	37	c.586delC	CCDS7024.1																																																																																				0.672	NPDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055182.1	NM_015392		2	4						2	4	---	---	---	---	-	139935547	G	-	139935547	7	5	280	1	0	1	0	1	0	0	0	0	10573	991	35	0	653	0	NPDC1	9	139935547	Frame_Shift_Del	DEL	G	TCGA-J4-A83M-01A-11D-A34U-08	70697251	139935547	1277884	24	12942											
ZEB1	6935	broad.mit.edu	37	chr10	31815612	31815612	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttgcaggtaaaagacctcAtgagtgtggaatctgtaaaa	14	12	10	5	0	2	2	1	1	1	1	2	3	2	3	1	2	1	3	1	2	5	4			TCGA-J4-A83M-01A-11D-A34U-08	TCGA-J4-A83M-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9da3aab7-ebaa-437d-baab-a11571b586d6	a57c0f87-eec2-4a38-998d-294959df3d34	g.chr10:31815612A>G	ENST00000320985.10	+	9	2905	c.2795A>G	c.(2794-2796)cAt>cGt	p.H932R	ZEB1_ENST00000446923.2_Missense_Mutation_p.H916R|ZEB1_ENST00000560721.2_Missense_Mutation_p.H912R|ZEB1_ENST00000542815.3_Missense_Mutation_p.H865R|ZEB1_ENST00000361642.5_Missense_Mutation_p.H933R			P37275	ZEB1_HUMAN	zinc finger E-box binding homeobox 1	932					cartilage development (GO:0051216)|cell proliferation (GO:0008283)|cellular response to amino acid stimulus (GO:0071230)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cochlea morphogenesis (GO:0090103)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic skeletal system morphogenesis (GO:0048704)|forebrain development (GO:0030900)|immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial cell differentiation (GO:0030857)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|pattern specification process (GO:0007389)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of mesenchymal cell proliferation (GO:0010464)|regulation of smooth muscle cell differentiation (GO:0051150)|regulation of T cell differentiation in thymus (GO:0033081)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|response to activity (GO:0014823)|response to nutrient levels (GO:0031667)|semicircular canal morphogenesis (GO:0048752)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|E-box binding (GO:0070888)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(2)|breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(38)|ovary(3)|skin(6)|upper_aerodigestive_tract(4)	77		Prostate(175;0.0156)				AAAAGACCTCATGAGTGTGGA	0.333																																					Ovarian(40;423 959 14296 36701 49589)	ENST00000446923.2																			0				NS(2)|breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(38)|ovary(3)|skin(6)|upper_aerodigestive_tract(4)	77						c.(2746-2748)cAt>cGt		zinc finger E-box binding homeobox 1							56	57	57					10																	31815612		2203	4300	6503	SO:0001583	missense	6935				cell proliferation|immune response|negative regulation of transcription from RNA polymerase II promoter|positive regulation of neuron differentiation	cytoplasm	E-box binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding	g.chr10:31815612A>G	AK091478	CCDS7169.1, CCDS44370.1, CCDS53505.1, CCDS53506.1, CCDS53507.1	10p11.22	2014-02-14	2007-02-15	2007-02-15	ENSG00000148516	ENSG00000148516		"Zinc fingers, C2H2-type", "Homeoboxes / ZF class"	11642	protein-coding gene	gene with protein product		189909	"transcription factor 8 (represses interleukin 2 expression)", "posterior polymorphous corneal dystrophy 3"	TCF8, PPCD3		1427828, 1840704, 15384081, 16252232	Standard	NM_001128128		Approved	BZP, ZEB, AREB6, NIL-2-A, Zfhep, Zfhx1a, FECD6	uc001ivu.4	P37275	OTTHUMG00000017907	ENST00000320985.10:c.2795A>G	10.37:g.31815612A>G	ENSP00000319248:p.His932Arg					ZEB1_ENST00000542815.3_Missense_Mutation_p.H865R|ZEB1_ENST00000560721.2_Missense_Mutation_p.H912R|ZEB1_ENST00000320985.10_Missense_Mutation_p.H932R|ZEB1_ENST00000361642.5_Missense_Mutation_p.H933R	p.H916R	NM_001128128.2|NM_001174094.1	NP_001121600.1|NP_001167565.1	P37275	ZEB1_HUMAN			9	3138	+		Prostate(175;0.0156)	932					B4DJV0|B4DUW9|E9PCM7|F5H4I8|Q12924|Q13800|Q2KJ05|Q5T968|Q5VZ84|Q8NB68	Missense_Mutation	SNP	ENST00000320985.10	37	c.2747A>G	CCDS7169.1	.	.	.	.	.	.	.	.	.	.	A	21.1	4.102100	0.76983	.	.	ENSG00000148516	ENST00000542879;ENST00000537225;ENST00000361642;ENST00000546250;ENST00000542815;ENST00000320985;ENST00000437844;ENST00000543514;ENST00000446923	T;T;T;T;T	0.61859	0.07;0.07;0.07;0.07;0.07	5.13	5.13	0.70059	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.502966	0.18585	N	0.136889	T	0.72692	0.3492	M	0.69358	2.11	0.80722	D	1	D;P;P;P;P	0.65815	0.995;0.684;0.915;0.801;0.801	D;B;P;B;B	0.64321	0.924;0.419;0.783;0.419;0.419	T	0.75714	-0.3221	10	0.87932	D	0	-2.0149	14.9143	0.70781	1.0:0.0:0.0:0.0	.	865;916;912;933;932	F5H4I8;E9PCM7;Q5VZ84;Q2KJ05;P37275	.;.;.;.;ZEB1_HUMAN	R	714;932;933;927;865;932;912;823;916	ENSP00000444282:H714R;ENSP00000354487:H933R;ENSP00000444891:H865R;ENSP00000319248:H932R;ENSP00000391612:H916R	ENSP00000319248:H932R	H	+	2	0	ZEB1	31855618	1.000000	0.71417	0.998000	0.56505	0.979000	0.70002	9.283000	0.95860	1.946000	0.56461	0.477000	0.44152	CAT		0.333	ZEB1-018	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000419083.2	NM_030751		9	27	0	0	0	1	0	9	27					G	31815612	A	G	31815612	3	3	280	1	0	0	0	0	1	0	0	0	17620	217	8	4	2843	4	ZEB1	10	31815612	Missense_Mutation	SNP	A	TCGA-J4-A83M-01A-11D-A34U-08		31815612	103719135	25	12943											
TSG101	7251	broad.mit.edu	37	chr11	18541081	18541081	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctcaccatatgaatccaaaaCaggtttgagatctttgtata	14	13	6	8	0	2	2	1	2	1	1	3	3	3	2	2	1	1	2	2	1	6	5			TCGA-J4-A83M-01A-11D-A34U-08	TCGA-J4-A83M-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9da3aab7-ebaa-437d-baab-a11571b586d6	a57c0f87-eec2-4a38-998d-294959df3d34	g.chr11:18541081C>T	ENST00000251968.3	-	2	527	c.112G>A	c.(112-114)Gtt>Att	p.V38I	TSG101_ENST00000357193.3_Intron|TSG101_ENST00000536719.1_Missense_Mutation_p.V38I	NM_006292.3	NP_006283.1	Q99816	TS101_HUMAN	tumor susceptibility 101	38	UEV. {ECO:0000255|PROSITE- ProRule:PRU00652}.				cell cycle arrest (GO:0007050)|cell division (GO:0051301)|cellular protein modification process (GO:0006464)|endosomal transport (GO:0016197)|intracellular transport of virus (GO:0075733)|keratinocyte differentiation (GO:0030216)|membrane organization (GO:0061024)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription, DNA-templated (GO:0045892)|protein transport (GO:0015031)|regulation of cell growth (GO:0001558)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)|viral budding (GO:0046755)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral protein processing (GO:0019082)|virion assembly (GO:0019068)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|endosome membrane (GO:0010008)|ESCRT I complex (GO:0000813)|extracellular vesicular exosome (GO:0070062)|late endosome (GO:0005770)|multivesicular body (GO:0005771)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	calcium-dependent protein binding (GO:0048306)|DNA binding (GO:0003677)|protein homodimerization activity (GO:0042803)|transcription corepressor activity (GO:0003714)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)			kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	22						GAATCCAAAACAGGTTTGAGA	0.299																																					GBM(99;1348 1396 8611 26475 50572)	ENST00000536719.1																			0				kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	22						c.(112-114)Gtt>Att		tumor susceptibility 101							136	134	134					11																	18541081		2199	4292	6491	SO:0001583	missense	7251				cell division|cellular membrane organization|endosome transport|interspecies interaction between organisms|non-lytic virus budding|protein transport|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway	early endosome|late endosome membrane|multivesicular body|nucleolus|plasma membrane	calcium-dependent protein binding|DNA binding|transcription corepressor activity|ubiquitin binding|ubiquitin protein ligase binding	g.chr11:18541081C>T	U82130	CCDS7842.1	11p15	2013-08-22	2013-08-22		ENSG00000074319	ENSG00000074319			15971	protein-coding gene	gene with protein product		601387	"tumor susceptibility gene 10", "tumor susceptibility gene 101"	TSG10		9019400, 9241264	Standard	NM_006292		Approved	VPS23	uc001mor.3	Q99816	OTTHUMG00000167725	ENST00000251968.3:c.112G>A	11.37:g.18541081C>T	ENSP00000251968:p.Val38Ile					TSG101_ENST00000357193.3_Intron|TSG101_ENST00000251968.3_Missense_Mutation_p.V38I	p.V38I			Q99816	TS101_HUMAN			2	246	-			38			UEV.		Q9BUM5	Missense_Mutation	SNP	ENST00000251968.3	37	c.112G>A	CCDS7842.1	.	.	.	.	.	.	.	.	.	.	C	13.46	2.243186	0.39697	.	.	ENSG00000074319	ENST00000536719;ENST00000251968	T;T	0.42513	0.97;0.98	5.4	3.36	0.38483	Ubiquitin E2 variant, N-terminal (2);Ubiquitin-conjugating enzyme/RWD-like (2);	0.072290	0.56097	D	0.000039	T	0.28200	0.0696	L	0.33485	1.01	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.10567	-1.0624	10	0.38643	T	0.18	-19.7365	7.4843	0.27423	0.0:0.7159:0.1383:0.1457	.	38	Q99816	TS101_HUMAN	I	38	ENSP00000438471:V38I;ENSP00000251968:V38I	ENSP00000251968:V38I	V	-	1	0	TSG101	18497657	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	1.003000	0.29809	2.535000	0.85469	0.313000	0.20887	GTT		0.299	TSG101-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395906.1	NM_006292		53	110	0	0	0	1	0	53	110					T	18541081	C	T	18541081	3	4	280	1	0	0	0	0	1	0	0	0	16613	478	17	3	1096	3	TSG101	11	18541081	Missense_Mutation	SNP	C	TCGA-J4-A83M-01A-11D-A34U-08		18541081	116465435	26	12944											
MUC15	143662	broad.mit.edu	37	chr11	26586956	26586956	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtgtcattgaccaaagaccaAgtgaagttttctgaagacag	14	10	10	7	0	2	5	1	3	1	2	2	5	2	5	2	0	0	1	2	0	4	3			TCGA-J4-A83M-01A-11D-A34U-08	TCGA-J4-A83M-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9da3aab7-ebaa-437d-baab-a11571b586d6	a57c0f87-eec2-4a38-998d-294959df3d34	g.chr11:26586956A>G	ENST00000455601.2	-	2	568	c.450T>C	c.(448-450)acT>acC	p.T150T	ANO3_ENST00000531568.1_Intron|MUC15_ENST00000281268.8_Silent_p.T177T|ANO3_ENST00000537978.1_Intron|ANO3_ENST00000256737.3_Intron|MUC15_ENST00000529533.1_Silent_p.T177T|ANO3_ENST00000525139.1_Intron|MUC15_ENST00000436318.2_Silent_p.T177T|MUC15_ENST00000527569.1_Silent_p.T177T	NM_145650.3	NP_663625.2	Q8N387	MUC15_HUMAN	mucin 15, cell surface associated	150					cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	25						CCAAAGACCAAGTGAAGTTTT	0.443																																						ENST00000436318.2																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	25						c.(529-531)acT>acC		mucin 15, cell surface associated							158	148	152					11																	26586956		2203	4300	6503	SO:0001819	synonymous_variant	143662					extracellular region|integral to membrane|plasma membrane		g.chr11:26586956A>G	AJ417818	CCDS7859.1, CCDS44556.1, CCDS44557.1	11p14.3	2007-01-17	2006-03-14					"Mucins"	14956	protein-coding gene	gene with protein product		608566				12047385	Standard	NM_145650		Approved		uc001mqw.3	Q8N387		ENST00000455601.2:c.450T>C	11.37:g.26586956A>G						ANO3_ENST00000256737.3_Intron|ANO3_ENST00000537978.1_Intron|ANO3_ENST00000531568.1_Intron|MUC15_ENST00000455601.2_Silent_p.T150T|MUC15_ENST00000527569.1_Silent_p.T177T|ANO3_ENST00000525139.1_Intron|MUC15_ENST00000281268.8_Silent_p.T177T|MUC15_ENST00000529533.1_Silent_p.T177T	p.T177T			Q8N387	MUC15_HUMAN			2	664	-			150					B3KY00|E9PII6|F8W945|Q6UWS3|Q8IXI8|Q8WW41	Silent	SNP	ENST00000455601.2	37	c.531T>C	CCDS7859.1																																																																																				0.443	MUC15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387866.1	NM_145650		24	87	0	0	0	1	0	24	87					G	26586956	A	G	26586956	2	3	280	1	0	0	0	0	0	0	0	1	9972	59	3	4		4	MUC15	11	26586956	Silent	SNP	A	TCGA-J4-A83M-01A-11D-A34U-08	8045875	26586956	108419560	27	12945											
PAMR1	25891	broad.mit.edu	37	chr11	35515649	35515649	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccattccacactcacctgggTggatcaggcaggagtcacac	10	7	10	14	0	3	0	3	0	0	0	4	2	4	2	3	4	0	1	3	4	0	1			TCGA-J4-A83M-01A-11D-A34U-08	TCGA-J4-A83M-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9da3aab7-ebaa-437d-baab-a11571b586d6	a57c0f87-eec2-4a38-998d-294959df3d34	g.chr11:35515649T>A	ENST00000378880.2	-	2	690	c.245A>T	c.(244-246)cAc>cTc	p.H82L	PAMR1_ENST00000532848.1_Missense_Mutation_p.H42L|PAMR1_ENST00000534803.1_5'UTR|PAMR1_ENST00000278360.3_Missense_Mutation_p.H82L|PAMR1_ENST00000378878.3_Missense_Mutation_p.H82L	NM_001001991.1	NP_001001991.1	Q6UXH9	PAMR1_HUMAN	peptidase domain containing associated with muscle regeneration 1	82	Cys-rich.					extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	26						CTCACCTGGGTGGATCAGGCA	0.527																																						ENST00000378880.2																			0				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	26						c.(244-246)cAc>cTc		peptidase domain containing associated with muscle regeneration 1							233	159	184					11																	35515649		2202	4298	6500	SO:0001583	missense	25891				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr11:35515649T>A		CCDS7898.1, CCDS31460.1, CCDS60759.1, CCDS60760.1	11p13	2009-09-30			ENSG00000149090	ENSG00000149090			24554	protein-coding gene	gene with protein product	"regeneration-associated muscle protease"					15111323	Standard	NM_001282675		Approved	RAMP, DKFZP586H2123	uc001mwf.3	Q6UXH9	OTTHUMG00000166328	ENST00000378880.2:c.245A>T	11.37:g.35515649T>A	ENSP00000368158:p.His82Leu					PAMR1_ENST00000534803.1_5'UTR|PAMR1_ENST00000532848.1_Missense_Mutation_p.H42L|PAMR1_ENST00000278360.3_Missense_Mutation_p.H82L|PAMR1_ENST00000378878.3_Missense_Mutation_p.H82L	p.H82L	NM_001001991.1	NP_001001991.1	Q6UXH9	PAMR1_HUMAN			2	690	-			82			Cys-rich.		A8MQ58|B7ZA73|Q5EBL7|Q5JPI4|Q6N062|Q71RE9|Q96JW2|Q9Y432	Missense_Mutation	SNP	ENST00000378880.2	37	c.245A>T	CCDS31460.1	.	.	.	.	.	.	.	.	.	.	T	23.0	4.364465	0.82463	.	.	ENSG00000149090	ENST00000278360;ENST00000378880;ENST00000378878;ENST00000532848;ENST00000527605;ENST00000529303	D;D;D;D;D;D	0.90676	-2.23;-2.26;-2.47;-2.22;-2.23;-2.71	4.85	4.85	0.62838	.	0.061202	0.64402	D	0.000010	D	0.91456	0.7303	N	0.24115	0.695	0.37401	D	0.91285	D;D;D	0.89917	1.0;0.998;1.0	D;D;D	0.91635	0.999;0.986;0.998	D	0.94006	0.7280	10	0.87932	D	0	.	14.4246	0.67207	0.0:0.0:0.0:1.0	.	82;82;82	A8MQ58;Q6UXH9;Q6UXH9-2	.;PAMR1_HUMAN;.	L	82;82;82;42;42;82	ENSP00000278360:H82L;ENSP00000368158:H82L;ENSP00000368156:H82L;ENSP00000433868:H42L;ENSP00000432591:H42L;ENSP00000433024:H82L	ENSP00000278360:H82L	H	-	2	0	PAMR1	35472225	1.000000	0.71417	1.000000	0.80357	0.807000	0.45602	7.978000	0.88095	1.821000	0.53095	0.459000	0.35465	CAC		0.527	PAMR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389177.1	NM_015430		8	69	0	0	0	1	0	8	69					A	35515649	T	A	35515649	3	1	280	1	0	0	0	0	1	0	0	0	11413	1696	59	5	2012	5	PAMR1	11	35515649	Missense_Mutation	SNP	T	TCGA-J4-A83M-01A-11D-A34U-08	8928693	35515649	99490867	28	12946											
AHNAK	79026	broad.mit.edu	37	chr11	62296740	62296740	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aggcatactgaacttgggcaTtttcatcttgggcattttca	9	15	9	8	0	3	1	2	1	1	0	3	1	3	1	0	3	2	3	0	3	2	7			TCGA-J4-A83M-01A-11D-A34U-08	TCGA-J4-A83M-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9da3aab7-ebaa-437d-baab-a11571b586d6	a57c0f87-eec2-4a38-998d-294959df3d34	g.chr11:62296740T>A	ENST00000378024.4	-	5	5423	c.5149A>T	c.(5149-5151)Atg>Ttg	p.M1717L	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	1717					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				AACTTGGGCATTTTCATCTTG	0.507																																						ENST00000378024.4																			0				NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268						c.(5149-5151)Atg>Ttg		AHNAK nucleoprotein							211	218	216					11																	62296740		2202	4299	6501	SO:0001583	missense	79026				nervous system development	nucleus	protein binding	g.chr11:62296740T>A	M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"desmoyokin"	103390	"AHNAK nucleoprotein (desmoyokin)"			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.5149A>T	11.37:g.62296740T>A	ENSP00000367263:p.Met1717Leu					AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	p.M1717L	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN			5	5423	-		Melanoma(852;0.155)	1717					A1A586	Missense_Mutation	SNP	ENST00000378024.4	37	c.5149A>T	CCDS31584.1	.	.	.	.	.	.	.	.	.	.	T	10.83	1.461695	0.26248	.	.	ENSG00000124942	ENST00000378024	T	0.01221	5.15	3.9	1.32	0.21799	.	0.000000	0.44902	U	0.000414	T	0.03520	0.0101	L	0.59967	1.855	0.28100	N	0.931443	P	0.34826	0.471	P	0.50791	0.65	T	0.25710	-1.0124	10	0.13470	T	0.59	.	10.1562	0.42825	0.0:0.0:0.3215:0.6785	.	1717	Q09666	AHNK_HUMAN	L	1717	ENSP00000367263:M1717L	ENSP00000367263:M1717L	M	-	1	0	AHNAK	62053316	0.943000	0.32029	0.420000	0.26596	0.170000	0.22686	0.994000	0.29693	0.018000	0.15052	0.254000	0.18369	ATG		0.507	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060		8	299	0	0	0	1	0	8	299					A	62296740	T	A	62296740	3	1	280	1	0	0	0	0	1	0	0	0	414	1493	52	5	12643	5	AHNAK	11	62296740	Missense_Mutation	SNP	T	TCGA-J4-A83M-01A-11D-A34U-08	26781091	62296740	72709776	29	12947											
C11orf30	56946	broad.mit.edu	37	chr11	76257110	76257110	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgccactagcatgctcacTggtgaagcaggatcattacc	10	10	9	12	0	2	1	2	1	0	0	2	2	2	2	2	2	5	3	2	2	3	3			TCGA-J4-A83M-01A-11D-A34U-08	TCGA-J4-A83M-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9da3aab7-ebaa-437d-baab-a11571b586d6	a57c0f87-eec2-4a38-998d-294959df3d34	g.chr11:76257110T>C	ENST00000529032.1	+	19	3543	c.3543T>C	c.(3541-3543)acT>acC	p.T1181T	C11orf30_ENST00000524490.1_Silent_p.T1083T|C11orf30_ENST00000343878.3_Intron|C11orf30_ENST00000334736.3_Silent_p.T1181T|C11orf30_ENST00000524767.1_Silent_p.T1196T|C11orf30_ENST00000533248.1_Silent_p.T1090T|C11orf30_ENST00000525038.1_Silent_p.T1182T|C11orf30_ENST00000525919.1_Silent_p.T1182T			Q7Z589	EMSY_HUMAN	chromosome 11 open reading frame 30	1181					chromatin modification (GO:0016568)|DNA repair (GO:0006281)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(10)|liver(1)|lung(23)|ovary(5)|prostate(2)|skin(4)|stomach(1)|urinary_tract(2)	60						GCATGCTCACTGGTGAAGCAG	0.468																																						ENST00000529032.1																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(10)|liver(1)|lung(23)|ovary(5)|prostate(2)|skin(4)|stomach(1)|urinary_tract(2)	60						c.(3541-3543)acT>acC		chromosome 11 open reading frame 30							90	89	89					11																	76257110		2200	4292	6492	SO:0001819	synonymous_variant	56946				chromatin modification|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chr11:76257110T>C	AF226047	CCDS8244.1, CCDS73349.1, CCDS73350.1, CCDS73351.1	11q13.5	2010-07-01			ENSG00000158636	ENSG00000158636			18071	protein-coding gene	gene with protein product		608574					Standard	XM_005274106		Approved	EMSY	uc001oxl.3	Q7Z589	OTTHUMG00000165282	ENST00000529032.1:c.3543T>C	11.37:g.76257110T>C						C11orf30_ENST00000334736.3_Silent_p.T1181T|C11orf30_ENST00000343878.3_Intron|C11orf30_ENST00000533248.1_Silent_p.T1090T|C11orf30_ENST00000524490.1_Silent_p.T1083T|C11orf30_ENST00000525038.1_Silent_p.T1182T|C11orf30_ENST00000524767.1_Silent_p.T1196T|C11orf30_ENST00000525919.1_Silent_p.T1182T	p.T1181T			Q7Z589	EMSY_HUMAN			19	3543	+			1181					B7ZKT8|B7ZKU0|B7ZKU2|Q17RM7|Q4G109|Q8NBU6|Q8TE50|Q9H8I9|Q9NRH0	Silent	SNP	ENST00000529032.1	37	c.3543T>C	CCDS8244.1	.	.	.	.	.	.	.	.	.	.	T	3.830	-0.036049	0.07497	.	.	ENSG00000158636	ENST00000531793	.	.	.	5.53	4.39	0.52855	.	.	.	.	.	T	0.63379	0.2506	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.61028	-0.7145	4	.	.	.	-3.7938	12.1326	0.53952	0.0:0.0:0.2708:0.7292	.	.	.	.	P	40	.	.	L	+	2	0	C11orf30	75934758	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.924000	0.40065	1.090000	0.41315	0.528000	0.53228	CTG		0.468	C11orf30-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000383288.2	NM_020193		29	30	0	0	0	1	0	29	30					C	76257110	T	C	76257110	2	2	280	1	0	0	0	0	0	0	0	1	1636	1567	55	4		4	C11orf30	11	76257110	Silent	SNP	T	TCGA-J4-A83M-01A-11D-A34U-08	13960370	76257110	58749406	30	12948											
FAT3	120114	broad.mit.edu	37	chr11	92543011	92543011	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgccatttattttcacaggcGagttaaaaaccttggctctg	10	14	8	9	1	2	0	1	0	1	0	2	1	2	0	2	2	2	2	2	2	4	6			TCGA-J4-A83M-01A-11D-A34U-08	TCGA-J4-A83M-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9da3aab7-ebaa-437d-baab-a11571b586d6	a57c0f87-eec2-4a38-998d-294959df3d34	g.chr11:92543011G>A	ENST00000298047.6	+	12	9267	c.9250G>A	c.(9250-9252)Gag>Aag	p.E3084K	FAT3_ENST00000525166.1_Missense_Mutation_p.E2934K|FAT3_ENST00000409404.2_Missense_Mutation_p.E3084K			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	3084	Cadherin 28. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				TTTCACAGGCGAGTTAAAAAC	0.478										TCGA Ovarian(4;0.039)																												ENST00000298047.6																			0				NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85						c.(9250-9252)Gag>Aag		FAT atypical cadherin 3							67	64	65					11																	92543011		1843	4088	5931	SO:0001583	missense	120114				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr11:92543011G>A	AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"Cadherins / Cadherin-related"	23112	protein-coding gene	gene with protein product	"cadherin-related family member 10"	612483	"FAT tumor suppressor homolog 3 (Drosophila)"			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.9250G>A	11.37:g.92543011G>A	ENSP00000298047:p.Glu3084Lys	TCGA Ovarian(4;0.039)				FAT3_ENST00000409404.2_Missense_Mutation_p.E3084K|FAT3_ENST00000525166.1_Missense_Mutation_p.E2934K	p.E3084K			Q8TDW7	FAT3_HUMAN			12	9267	+		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)	3084			Cadherin 28.		B5MDB0|Q96AU6	Missense_Mutation	SNP	ENST00000298047.6	37	c.9250G>A		.	.	.	.	.	.	.	.	.	.	G	29.9	5.045496	0.93685	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000525166	T;T;T	0.01705	4.68;4.68;4.68	5.4	4.48	0.54585	.	.	.	.	.	T	0.10337	0.0253	M	0.82323	2.585	0.80722	D	1	D	0.89917	1.0	D	0.68943	0.961	T	0.21724	-1.0237	9	0.26408	T	0.33	.	16.1021	0.81178	0.0:0.1342:0.8658:0.0	.	3084	Q8TDW7-3	.	K	3084;3084;2934	ENSP00000298047:E3084K;ENSP00000387040:E3084K;ENSP00000432586:E2934K	ENSP00000298047:E3084K	E	+	1	0	FAT3	92182659	1.000000	0.71417	0.992000	0.48379	0.976000	0.68499	7.912000	0.87465	1.249000	0.43950	0.563000	0.77884	GAG		0.478	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781		4	20	0	0	0	1	0	4	20					A	92543011	G	A	92543011	3	1	280	1	0	0	0	0	1	0	0	0	5691	1059	37	2	9296	2	FAT3	11	92543011	Missense_Mutation	SNP	G	TCGA-J4-A83M-01A-11D-A34U-08	16285901	92543011	42463505	31	12949											
DSCAML1	57453	broad.mit.edu	37	chr11	117301609	117301609	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtcatctggtcagaggaacTgtcagagatgaagcactcgg	11	8	14	8	1	4	3	3	1	1	2	5	5	4	4	0	4	2	1	0	4	2	0			TCGA-J4-A83M-01A-11D-A34U-08	TCGA-J4-A83M-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9da3aab7-ebaa-437d-baab-a11571b586d6	a57c0f87-eec2-4a38-998d-294959df3d34	g.chr11:117301609T>C	ENST00000321322.6	-	32	5696	c.5695A>G	c.(5695-5697)Agt>Ggt	p.S1899G	DSCAML1_ENST00000527706.1_Missense_Mutation_p.S1629G	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	1839					axonogenesis (GO:0007409)|brain development (GO:0007420)|cell fate determination (GO:0001709)|central nervous system development (GO:0007417)|dendrite self-avoidance (GO:0070593)|dorsal/ventral pattern formation (GO:0009953)|embryonic skeletal system morphogenesis (GO:0048704)|homophilic cell adhesion (GO:0007156)|negative regulation of cell adhesion (GO:0007162)	cell surface (GO:0009986)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		TCAGAGGAACTGTCAGAGATG	0.587																																						ENST00000321322.6																			0				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110						c.(5695-5697)Agt>Ggt		Down syndrome cell adhesion molecule like 1							300	252	268					11																	117301609		2201	4296	6497	SO:0001583	missense	57453				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity	g.chr11:117301609T>C		CCDS8384.1	11q22.2-q22.3	2013-02-11			ENSG00000177103	ENSG00000177103		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	14656	protein-coding gene	gene with protein product		611782				11453658	Standard	NM_020693		Approved	KIAA1132	uc001prh.1	Q8TD84	OTTHUMG00000167071	ENST00000321322.6:c.5695A>G	11.37:g.117301609T>C	ENSP00000315465:p.Ser1899Gly					DSCAML1_ENST00000527706.1_Missense_Mutation_p.S1629G	p.S1899G	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)	32	5696	-	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)	1839					Q76MU9|Q8IZY3|Q8IZY4|Q8WXU7|Q9ULT7	Missense_Mutation	SNP	ENST00000321322.6	37	c.5695A>G	CCDS8384.1	.	.	.	.	.	.	.	.	.	.	T	21.6	4.171437	0.78452	.	.	ENSG00000177103	ENST00000527706;ENST00000321322;ENST00000446508	T;T	0.63744	-0.02;-0.06	5.04	5.04	0.67666	.	.	.	.	.	T	0.54775	0.1879	N	0.19112	0.55	0.58432	D	0.999993	P	0.52316	0.952	P	0.47573	0.55	T	0.62263	-0.6891	9	0.72032	D	0.01	.	14.9328	0.70929	0.0:0.0:0.0:1.0	.	1839	Q8TD84	DSCL1_HUMAN	G	1629;1899;1606	ENSP00000434335:S1629G;ENSP00000315465:S1899G	ENSP00000315465:S1899G	S	-	1	0	DSCAML1	116806819	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.868000	0.87116	2.123000	0.65237	0.482000	0.46254	AGT		0.587	DSCAML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392907.2	NM_020693		5	155	0	0	0	1	0	5	155					C	117301609	T	C	117301609	3	2	280	1	0	0	0	0	1	0	0	0	4769	1580	55	4	654	4	DSCAML1	11	117301609	Missense_Mutation	SNP	T	TCGA-J4-A83M-01A-11D-A34U-08	24758598	117301609	17704907	32	12950											
OR10G8	219869	broad.mit.edu	37	chr11	123900402	123900402	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccccagcgctggacgcccccCtctttggagtcttcctggtg	3	10	11	17	2	2	0	0	0	2	0	3	2	3	2	6	3	1	1	6	3	0	2	rs147950397	byFrequency	TCGA-J4-A83M-01A-11D-A34U-08	TCGA-J4-A83M-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9da3aab7-ebaa-437d-baab-a11571b586d6	a57c0f87-eec2-4a38-998d-294959df3d34	g.chr11:123900402C>T	ENST00000431524.1	+	1	106	c.73C>T	c.(73-75)Ctc>Ttc	p.L25F		NM_001004464.1	NP_001004464.1	Q8NGN5	O10G8_HUMAN	olfactory receptor, family 10, subfamily G, member 8	25						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(7)|large_intestine(2)|lung(21)|ovary(1)|prostate(5)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	44		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		GGACGCCCCCCTCTTTGGAGT	0.582																																						ENST00000431524.1																			0				breast(1)|endometrium(7)|large_intestine(2)|lung(21)|ovary(1)|prostate(5)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	44						c.(73-75)Ctc>Ttc		olfactory receptor, family 10, subfamily G, member 8							184	172	176					11																	123900402		2201	4299	6500	SO:0001583	missense	219869				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:123900402C>T	AB065755	CCDS31704.1	11q24.1	2012-08-09			ENSG00000234560	ENSG00000234560		"GPCR / Class A : Olfactory receptors"	14845	protein-coding gene	gene with protein product							Standard	NM_001004464		Approved		uc001pzp.1	Q8NGN5	OTTHUMG00000165968	ENST00000431524.1:c.73C>T	11.37:g.123900402C>T	ENSP00000389072:p.Leu25Phe						p.L25F	NM_001004464.1	NP_001004464.1	Q8NGN5	O10G8_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)	1	106	+		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	25					B2RNJ3|Q6IEV2	Missense_Mutation	SNP	ENST00000431524.1	37	c.73C>T	CCDS31704.1	.	.	.	.	.	.	.	.	.	.	C	7.428	0.638055	0.14386	.	.	ENSG00000234560	ENST00000431524	T	0.17213	2.29	2.95	2.95	0.34219	.	0.000000	0.43747	D	0.000532	T	0.14570	0.0352	L	0.42529	1.33	0.21473	N	0.999676	B	0.25609	0.13	B	0.33042	0.157	T	0.13124	-1.0521	10	0.37606	T	0.19	.	5.9973	0.19501	0.0:0.8523:0.0:0.1477	.	25	Q8NGN5	O10G8_HUMAN	F	25	ENSP00000389072:L25F	ENSP00000389072:L25F	L	+	1	0	OR10G8	123405612	0.867000	0.29959	0.215000	0.23724	0.022000	0.10575	1.277000	0.33167	1.634000	0.50500	0.585000	0.79938	CTC		0.582	OR10G8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387270.1	NM_001004464		38	108	0	0	0	1	0	38	108					T	123900402	C	T	123900402	3	4	280	1	0	0	0	0	1	0	0	0	10903	681	24	3	75	3	OR10G8	11	123900402	Missense_Mutation	SNP	C	TCGA-J4-A83M-01A-11D-A34U-08	6598793	123900402	11106114	33	12951											
AICDA	57379	broad.mit.edu	37	chr12	8758040	8758040	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagggtctaggtcccagtcCgagatgtagcggaggaagag	10	6	16	9	2	1	2	0	0	1	2	3	5	3	4	3	4	1	1	3	4	3	2			TCGA-J4-A83M-01A-11D-A34U-08	TCGA-J4-A83M-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9da3aab7-ebaa-437d-baab-a11571b586d6	a57c0f87-eec2-4a38-998d-294959df3d34	g.chr12:8758040C>T	ENST00000229335.6	-	3	301	c.198G>A	c.(196-198)tcG>tcA	p.S66S	AICDA_ENST00000537228.1_Silent_p.S66S	NM_020661.2	NP_065712.1	Q9GZX7	AICDA_HUMAN	activation-induced cytidine deaminase	66					B cell differentiation (GO:0030183)|cellular response to lipopolysaccharide (GO:0071222)|DNA demethylation (GO:0080111)|isotype switching (GO:0045190)|mRNA processing (GO:0006397)|negative regulation of methylation-dependent chromatin silencing (GO:0090310)|somatic diversification of immunoglobulins (GO:0016445)|somatic hypermutation of immunoglobulin genes (GO:0016446)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	cytidine deaminase activity (GO:0004126)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(4)|ovary(2)|pancreas(1)	16	Lung SC(5;0.184)					GGTCCCAGTCCGAGATGTAGC	0.587																																					GBM(62;896 1067 5527 26594 30137)	ENST00000229335.6																			0				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(4)|ovary(2)|pancreas(1)	16						c.(196-198)tcG>tcA		activation-induced cytidine deaminase							54	57	56					12																	8758040		2074	4233	6307	SO:0001819	synonymous_variant	57379				B cell differentiation|DNA demethylation|mRNA processing|negative regulation of methylation-dependent chromatin silencing	cytoplasm	cytidine deaminase activity|protein binding|zinc ion binding	g.chr12:8758040C>T	AB040430	CCDS41747.1	12p13	2014-09-17			ENSG00000111732	ENSG00000111732		"Apolipoprotein B mRNA editing enzymes"	13203	protein-coding gene	gene with protein product		605257					Standard	NM_020661		Approved	HIGM2, CDA2, ARP2, AID	uc001qur.2	Q9GZX7	OTTHUMG00000168676	ENST00000229335.6:c.198G>A	12.37:g.8758040C>T						AICDA_ENST00000537228.1_Silent_p.S66S	p.S66S	NM_020661.2	NP_065712.1	Q9GZX7	AICDA_HUMAN			3	301	-	Lung SC(5;0.184)		66					Q6QJ81|Q8NFC1	Silent	SNP	ENST00000229335.6	37	c.198G>A	CCDS41747.1	.	.	.	.	.	.	.	.	.	.	C	9.358	1.067144	0.20067	.	.	ENSG00000111732	ENST00000543081;ENST00000545512	.	.	.	5.43	-7.06	0.01568	.	.	.	.	.	T	0.33498	0.0865	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.40590	-0.9555	4	.	.	.	-33.7651	0.3338	0.00323	0.2795:0.1818:0.2809:0.2579	.	.	.	.	Q	65	.	.	R	-	2	0	AICDA	8649307	0.022000	0.18835	0.700000	0.30305	0.887000	0.51463	-1.353000	0.02617	-1.311000	0.02309	-1.508000	0.00951	CGG		0.587	AICDA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000400575.1	NM_020661		3	41	0	0	0	1	0	3	41					T	8758040	C	T	8758040	2	4	280	1	0	0	0	0	0	0	0	1	422	639	23	2		2	AICDA	12	8758040	Silent	SNP	C	TCGA-J4-A83M-01A-11D-A34U-08		8758040	125093855	34	12952											
CS	1431	broad.mit.edu	37	chr12	56679800	56679800	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcaggtcagccaatatgtctTtcaaattctaaaaagaaaag	17	11	6	7	0	5	1	3	0	2	1	5	1	5	1	1	1	1	0	1	1	8	4			TCGA-J4-A83M-01A-11D-A34U-08	TCGA-J4-A83M-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9da3aab7-ebaa-437d-baab-a11571b586d6	a57c0f87-eec2-4a38-998d-294959df3d34	g.chr12:56679800T>C	ENST00000351328.3	-	3	291	c.101A>G	c.(100-102)aAa>aGa	p.K34R	CS_ENST00000542324.2_Missense_Mutation_p.K21R|RP11-977G19.10_ENST00000549318.1_Missense_Mutation_p.K230R|CS_ENST00000548567.1_5'UTR	NM_004077.2	NP_004068.2	O75390	CISY_HUMAN	citrate synthase	34					carbohydrate metabolic process (GO:0005975)|cellular carbohydrate metabolic process (GO:0044262)|cellular metabolic process (GO:0044237)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	citrate (Si)-synthase activity (GO:0004108)|poly(A) RNA binding (GO:0044822)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	17		Myeloproliferative disorder(1001;0.000374)		BRCA - Breast invasive adenocarcinoma(357;6.17e-07)		CAATATGTCTTTCAAATTCTA	0.403																																						ENST00000351328.3																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	17						c.(100-102)aAa>aGa		citrate synthase							110	106	108					12																	56679800		2203	4300	6503	SO:0001583	missense	1431				cellular carbohydrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix	citrate (Si)-synthase activity	g.chr12:56679800T>C		CCDS8913.1	12q13.2	2012-10-02				ENSG00000062485	2.3.3.1		2422	protein-coding gene	gene with protein product		118950					Standard	NM_004077		Approved		uc001sks.1	O75390	OTTHUMG00000170344	ENST00000351328.3:c.101A>G	12.37:g.56679800T>C	ENSP00000342056:p.Lys34Arg					CS_ENST00000548567.1_5'UTR|RP11-977G19.10_ENST00000549318.1_Missense_Mutation_p.K230R|CS_ENST00000542324.2_Missense_Mutation_p.K21R	p.K34R	NM_004077.2	NP_004068.2	O75390	CISY_HUMAN		BRCA - Breast invasive adenocarcinoma(357;6.17e-07)	3	291	-		Myeloproliferative disorder(1001;0.000374)	34					Q71UT9|Q7KZH0|Q96FZ8|Q9BWN8	Missense_Mutation	SNP	ENST00000351328.3	37	c.101A>G	CCDS8913.1	.	.	.	.	.	.	.	.	.	.	T	23.1	4.380345	0.82682	.	.	ENSG00000062485;ENSG00000062485;ENSG00000062485;ENSG00000062485;ENSG00000062485;ENSG00000062485;ENSG00000062485;ENSG00000144785;ENSG00000144785	ENST00000351328;ENST00000542324;ENST00000546930;ENST00000548041;ENST00000546554;ENST00000550655;ENST00000551968;ENST00000549318;ENST00000547423	.	.	.	3.79	3.79	0.43588	Citrate synthase-like, large alpha subdomain (1);Citrate synthase-like, core (1);	0.000000	0.85682	D	0.000000	T	0.50222	0.1603	L	0.46741	1.465	0.58432	D	0.999998	B;B	0.28324	0.207;0.207	B;B	0.29440	0.102;0.066	T	0.54523	-0.8281	9	0.49607	T	0.09	-12.6527	12.4999	0.55950	0.0:0.0:0.0:1.0	.	21;34	B4DJV2;O75390	.;CISY_HUMAN	R	34;21;34;34;34;34;34;230;88	.	ENSP00000342056:K34R	K	-	2	0	RP11-977G19.10;CS	54966067	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.340000	0.79292	1.956000	0.56807	0.533000	0.62120	AAA		0.403	CS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408588.2	NM_004077		12	81	0	0	0	1	0	12	81					C	56679800	T	C	56679800	3	2	280	1	0	0	0	0	1	0	0	0	3924	1841	64	4	1335	4	CS	12	56679800	Missense_Mutation	SNP	T	TCGA-J4-A83M-01A-11D-A34U-08	47921760	56679800	77172095	35	12953											
PLXNC1	10154	broad.mit.edu	37	chr12	94641683	94641683	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttctttttgtccaggtctCtgaatattgtgtggcgactt	5	20	9	7	1	2	1	0	1	2	0	4	2	3	1	1	2	0	0	1	2	2	7			TCGA-J4-A83M-01A-11D-A34U-08	TCGA-J4-A83M-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9da3aab7-ebaa-437d-baab-a11571b586d6	a57c0f87-eec2-4a38-998d-294959df3d34	g.chr12:94641683C>A	ENST00000258526.4	+	13	2642	c.2393C>A	c.(2392-2394)tCt>tAt	p.S798Y		NM_005761.2	NP_005752.1	O60486	PLXC1_HUMAN	plexin C1	798					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)|receptor binding (GO:0005102)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(12)|lung(30)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						GTCCAGGTCTCTGAATATTGT	0.423																																						ENST00000258526.4																			0				breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(12)|lung(30)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						c.(2392-2394)tCt>tAt		plexin C1							124	130	128					12																	94641683		2203	4300	6503	SO:0001583	missense	10154				axon guidance|cell adhesion	integral to membrane|intracellular|plasma membrane	receptor activity|receptor binding	g.chr12:94641683C>A	AF030339	CCDS9049.1	12q23	2009-04-17				ENSG00000136040		"CD molecules", "Plexins"	9106	protein-coding gene	gene with protein product		604259					Standard	NR_037687		Approved	VESPR, CD232	uc001tdc.3	O60486	OTTHUMG00000170235	ENST00000258526.4:c.2393C>A	12.37:g.94641683C>A	ENSP00000258526:p.Ser798Tyr						p.S798Y	NM_005761.2	NP_005752.1	O60486	PLXC1_HUMAN			13	2642	+			798					Q59H25	Missense_Mutation	SNP	ENST00000258526.4	37	c.2393C>A	CCDS9049.1	.	.	.	.	.	.	.	.	.	.	C	17.56	3.421098	0.62622	.	.	ENSG00000136040	ENST00000258526	T	0.80994	-1.44	5.94	5.05	0.67936	Cell surface receptor IPT/TIG (2);	1.171210	0.05849	N	0.620769	D	0.83830	0.5339	L	0.29908	0.895	0.80722	D	1	D	0.65815	0.995	P	0.60541	0.876	T	0.75158	-0.3416	10	0.66056	D	0.02	.	11.9242	0.52810	0.0:0.9211:0.0:0.0789	.	798	O60486	PLXC1_HUMAN	Y	798	ENSP00000258526:S798Y	ENSP00000258526:S798Y	S	+	2	0	PLXNC1	93165814	1.000000	0.71417	0.998000	0.56505	0.544000	0.35116	1.399000	0.34566	2.820000	0.97059	0.650000	0.86243	TCT		0.423	PLXNC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408126.2			6	106	1	0	0.0293803	1	0.0309829	6	106					A	94641683	C	A	94641683	3	1	280	1	0	0	0	0	1	0	0	0	12126	913	32	5	2443	5	PLXNC1	12	94641683	Missense_Mutation	SNP	C	TCGA-J4-A83M-01A-11D-A34U-08	37961883	94641683	39210212	36	12954											
TBC1D4	9882	broad.mit.edu	37	chr13	75923344	75923344	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcttatgcaaagagtgcatcGggcaggcctcacacagttta	11	9	11	10	1	1	1	1	0	0	1	2	1	1	1	1	2	2	5	1	2	3	3	rs375499221	byFrequency	TCGA-J4-A83M-01A-11D-A34U-08	TCGA-J4-A83M-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9da3aab7-ebaa-437d-baab-a11571b586d6	a57c0f87-eec2-4a38-998d-294959df3d34	g.chr13:75923344G>C	ENST00000377636.3	-	5	1716	c.1370C>G	c.(1369-1371)cCg>cGg	p.P457R	TBC1D4_ENST00000431480.2_Missense_Mutation_p.P457R|TBC1D4_ENST00000425511.1_5'UTR|TBC1D4_ENST00000377625.2_Missense_Mutation_p.P457R	NM_014832.2	NP_055647.2	O60343	TBCD4_HUMAN	TBC1 domain family, member 4	457	PID 2. {ECO:0000255|PROSITE- ProRule:PRU00148}.				cellular response to insulin stimulus (GO:0032869)|membrane organization (GO:0061024)|negative regulation of vesicle fusion (GO:0031339)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|extracellular vesicular exosome (GO:0070062)	Rab GTPase activator activity (GO:0005097)	p.P457R(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(12)|lung(18)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Prostate(6;0.014)|Breast(118;0.0982)		GBM - Glioblastoma multiforme(99;0.0116)		AGAGTGCATCGGGCAGGCCTC	0.478																																						ENST00000377636.3																			1	Substitution - Missense(1)	p.P457R(1)	breast(1)	breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(12)|lung(18)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						c.(1369-1371)cCg>cGg		TBC1 domain family, member 4							69	69	69					13																	75923344		1931	4129	6060	SO:0001583	missense	9882					cytoplasm	Rab GTPase activator activity	g.chr13:75923344G>C	AB011175	CCDS41901.1, CCDS66563.1, CCDS66564.1	13q22.2	2013-07-09			ENSG00000136111	ENSG00000136111			19165	protein-coding gene	gene with protein product	"Akt substrate of 160 kDa"	612465				11829485, 11994271, 15304337	Standard	XM_005266603		Approved	KIAA0603, AS160, DKFZp779C0666	uc001vjl.1	O60343	OTTHUMG00000017088	ENST00000377636.3:c.1370C>G	13.37:g.75923344G>C	ENSP00000366863:p.Pro457Arg					TBC1D4_ENST00000425511.1_5'UTR|TBC1D4_ENST00000431480.2_Missense_Mutation_p.P457R|TBC1D4_ENST00000377625.2_Missense_Mutation_p.P457R	p.P457R	NM_014832.2	NP_055647.2	O60343	TBCD4_HUMAN		GBM - Glioblastoma multiforme(99;0.0116)	5	1716	-		Prostate(6;0.014)|Breast(118;0.0982)	457			PID 2.		A7E2X8|B4DU25|B4E235|B6ETN8|B6ETN9|Q5W0B9|Q68D14	Missense_Mutation	SNP	ENST00000377636.3	37	c.1370C>G	CCDS41901.1	.	.	.	.	.	.	.	.	.	.	G	29.7	5.025993	0.93518	.	.	ENSG00000136111	ENST00000377636;ENST00000431480;ENST00000377625	T;T;T	0.19669	2.2;2.13;2.26	6.04	6.04	0.98038	.	0.000000	0.64402	D	0.000001	T	0.52125	0.1715	M	0.77486	2.375	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.50750	-0.8791	10	0.87932	D	0	-22.5512	20.5875	0.99426	0.0:0.0:1.0:0.0	.	457;457;457	O60343-2;O60343-3;O60343	.;.;TBCD4_HUMAN	R	457	ENSP00000366863:P457R;ENSP00000395986:P457R;ENSP00000366852:P457R	ENSP00000366852:P457R	P	-	2	0	TBC1D4	74821345	1.000000	0.71417	0.979000	0.43373	0.955000	0.61496	9.326000	0.96389	2.861000	0.98227	0.643000	0.83706	CCG		0.478	TBC1D4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045283.1	NM_014832		4	66	0	0	0	1	0	4	66					C	75923344	G	C	75923344	3	2	280	1	0	0	0	0	1	0	0	0	15619	1116	39	5	2594	5	TBC1D4	13	75923344	Missense_Mutation	SNP	G	TCGA-J4-A83M-01A-11D-A34U-08		75923344	39246534	37	12955											
F7	2155	broad.mit.edu	37	chr13	113772752	113772752	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacgacctcagcgagcacgaCggggatgagcagagccggcg	10	2	16	13	6	1	2	1	1	0	1	1	6	1	3	2	3	4	2	2	3	0	0			TCGA-J4-A83M-01A-11D-A34U-08	TCGA-J4-A83M-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9da3aab7-ebaa-437d-baab-a11571b586d6	a57c0f87-eec2-4a38-998d-294959df3d34	g.chr13:113772752C>T	ENST00000375581.3	+	9	866	c.831C>T	c.(829-831)gaC>gaT	p.D277D	F7_ENST00000541084.1_Silent_p.D208D|F7_ENST00000346342.3_Silent_p.D255D	NM_000131.4	NP_000122.1	P08709	FA7_HUMAN	coagulation factor VII (serum prothrombin conversion accelerator)	277	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.		D -> N (in FA7D). {ECO:0000269|PubMed:18976247}.		blood coagulation (GO:0007596)|blood coagulation, extrinsic pathway (GO:0007598)|cellular protein metabolic process (GO:0044267)|circadian rhythm (GO:0007623)|organ regeneration (GO:0031100)|peptidyl-glutamic acid carboxylation (GO:0017187)|positive regulation of blood coagulation (GO:0030194)|positive regulation of cell migration (GO:0030335)|positive regulation of leukocyte chemotaxis (GO:0002690)|positive regulation of platelet-derived growth factor receptor signaling pathway (GO:0010641)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of protein kinase B signaling (GO:0051897)|post-translational protein modification (GO:0043687)|proteolysis (GO:0006508)|response to estrogen (GO:0043627)|response to growth hormone (GO:0060416)|response to vitamin K (GO:0032571)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	calcium ion binding (GO:0005509)|glycoprotein binding (GO:0001948)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			large_intestine(4)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	16	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0364)|all_epithelial(44;0.0393)|Lung NSC(25;0.128)|Breast(118;0.188)	all cancers(43;0.0737)|Epithelial(84;0.213)|BRCA - Breast invasive adenocarcinoma(86;0.218)		Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Menadione(DB00170)	GCGAGCACGACGGGGATGAGC	0.682																																						ENST00000375581.3																			0				large_intestine(4)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	16	GRCh37	CI010146	F7	I		c.(829-831)gaC>gaT		coagulation factor VII (serum prothrombin conversion accelerator)	Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Menadione(DB00170)						65	66	66					13																	113772752		2202	4299	6501	SO:0001819	synonymous_variant	2155				anti-apoptosis|blood coagulation, extrinsic pathway|peptidyl-glutamic acid carboxylation|positive regulation of leukocyte chemotaxis|positive regulation of platelet-derived growth factor receptor signaling pathway|positive regulation of positive chemotaxis|positive regulation of protein kinase B signaling cascade|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|Golgi lumen|plasma membrane	calcium ion binding|glycoprotein binding|serine-type endopeptidase activity	g.chr13:113772752C>T		CCDS9528.1, CCDS9529.1, CCDS73602.1	13q34	2014-02-03			ENSG00000057593	ENSG00000057593	3.4.21.21		3544	protein-coding gene	gene with protein product	"eptacog alfa", "FVII coagulation protein", "factor VII"	613878				3264725, 2511201	Standard	NM_000131		Approved		uc001vsv.4	P08709	OTTHUMG00000017373	ENST00000375581.3:c.831C>T	13.37:g.113772752C>T						F7_ENST00000541084.1_Silent_p.D208D|F7_ENST00000346342.3_Silent_p.D255D	p.D277D	NM_000131.4	NP_000122.1	P08709	FA7_HUMAN	all cancers(43;0.0737)|Epithelial(84;0.213)|BRCA - Breast invasive adenocarcinoma(86;0.218)		9	866	+	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0364)|all_epithelial(44;0.0393)|Lung NSC(25;0.128)|Breast(118;0.188)	277		D -> N (in FA7D).	Peptidase S1.		B0YJC8|Q14339|Q5JVF1|Q5JVF2|Q9UD52|Q9UD53|Q9UD54	Silent	SNP	ENST00000375581.3	37	c.831C>T	CCDS9528.1																																																																																				0.682	F7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045838.4	NM_000131		13	38	0	0	0	1	0	13	38					T	113772752	C	T	113772752	2	4	280	1	0	0	0	0	0	0	0	1	5349	535	19	1		1	F7	13	113772752	Silent	SNP	C	TCGA-J4-A83M-01A-11D-A34U-08	37849408	113772752	1397126	38	12956											
AKT1	207	broad.mit.edu	37	chr14	105239420	105239420	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tgcacggccgtagtcattgtCctccagcacctgcacgggtg	6	9	12	14	3	1	0	1	0	0	0	3	0	3	0	4	2	3	4	4	2	1	2			TCGA-J4-A83M-01A-11D-A34U-08	TCGA-J4-A83M-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9da3aab7-ebaa-437d-baab-a11571b586d6	a57c0f87-eec2-4a38-998d-294959df3d34	g.chr14:105239420C>A	ENST00000554581.1	-	10	2447	c.967G>T	c.(967-969)Gac>Tac	p.D323Y	AKT1_ENST00000554192.1_Intron|AKT1_ENST00000407796.2_Missense_Mutation_p.D323Y|AKT1_ENST00000402615.2_Missense_Mutation_p.D323Y|AKT1_ENST00000544168.1_Missense_Mutation_p.D261Y|AKT1_ENST00000554848.1_Missense_Mutation_p.D323Y|AKT1_ENST00000555528.1_Missense_Mutation_p.D323Y|RP11-982M15.2_ENST00000557223.1_RNA|AKT1_ENST00000554585.1_5'UTR|AKT1_ENST00000349310.3_Missense_Mutation_p.D323Y|AKT1_ENST00000555458.1_Missense_Mutation_p.D18Y			P31749	AKT1_HUMAN	v-akt murine thymoma viral oncogene homolog 1	323	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation-induced cell death of T cells (GO:0006924)|aging (GO:0007568)|anagen (GO:0042640)|apoptotic mitochondrial changes (GO:0008637)|apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|cell projection organization (GO:0030030)|cell proliferation (GO:0008283)|cellular protein modification process (GO:0006464)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to granulocyte macrophage colony-stimulating factor stimulus (GO:0097011)|cellular response to hypoxia (GO:0071456)|cellular response to insulin stimulus (GO:0032869)|cellular response to mechanical stimulus (GO:0071260)|endocrine pancreas development (GO:0031018)|epidermal growth factor receptor signaling pathway (GO:0007173)|execution phase of apoptosis (GO:0097194)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|gene expression (GO:0010467)|germ cell development (GO:0007281)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glucose transport (GO:0015758)|glycogen biosynthetic process (GO:0005978)|glycogen cell differentiation involved in embryonic placenta development (GO:0060709)|hyaluronan metabolic process (GO:0030212)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|intracellular signal transduction (GO:0035556)|intrinsic apoptotic signaling pathway (GO:0097193)|labyrinthine layer blood vessel development (GO:0060716)|mammary gland epithelial cell differentiation (GO:0060644)|maternal placenta development (GO:0001893)|membrane organization (GO:0061024)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of autophagy (GO:0010507)|negative regulation of cell size (GO:0045792)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of fatty acid beta-oxidation (GO:0031999)|negative regulation of JNK cascade (GO:0046329)|negative regulation of neuron death (GO:1901215)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|negative regulation of plasma membrane long-chain fatty acid transport (GO:0010748)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of proteolysis (GO:0045861)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nitric oxide biosynthetic process (GO:0006809)|nitric oxide metabolic process (GO:0046209)|osteoblast differentiation (GO:0001649)|peptidyl-serine phosphorylation (GO:0018105)|peripheral nervous system myelin maintenance (GO:0032287)|phosphatidylinositol-mediated signaling (GO:0048015)|phosphorylation (GO:0016310)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell growth (GO:0030307)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of glucose import (GO:0046326)|positive regulation of glucose metabolic process (GO:0010907)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of lipid biosynthetic process (GO:0046889)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of sodium ion transport (GO:0010765)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasoconstriction (GO:0045907)|protein autophosphorylation (GO:0046777)|protein catabolic process (GO:0030163)|protein import into nucleus, translocation (GO:0000060)|protein kinase B signaling (GO:0043491)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cell cycle checkpoint (GO:1901976)|regulation of cell migration (GO:0030334)|regulation of glycogen biosynthetic process (GO:0005979)|regulation of neuron projection development (GO:0010975)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of translation (GO:0006417)|response to fluid shear stress (GO:0034405)|response to food (GO:0032094)|response to heat (GO:0009408)|response to UV-A (GO:0070141)|RNA metabolic process (GO:0016070)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|striated muscle cell differentiation (GO:0051146)|T cell costimulation (GO:0031295)|translation (GO:0006412)	cell-cell junction (GO:0005911)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle (GO:0005819)	14-3-3 protein binding (GO:0071889)|ATP binding (GO:0005524)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|kinase activity (GO:0016301)|nitric-oxide synthase regulator activity (GO:0030235)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)			NS(3)|breast(97)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(7)|lung(10)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|thyroid(10)|urinary_tract(15)	176		all_cancers(154;3.77e-06)|all_lung(585;3.24e-07)|all_epithelial(191;3.45e-05)|all_neural(303;0.0459)|Melanoma(154;0.155)	all cancers(16;0.000486)|OV - Ovarian serous cystadenocarcinoma(23;0.00647)|Epithelial(46;0.0153)|GBM - Glioblastoma multiforme(11;0.116)	all cancers(159;0.0107)|OV - Ovarian serous cystadenocarcinoma(161;0.0132)|Epithelial(152;0.243)	Adenosine triphosphate(DB00171)|Arsenic trioxide(DB01169)	TAGTCATTGTCCTCCAGCACC	0.632		1	Mis		"breast, colorectal, ovarian, NSCLC"																																	ENST00000554581.1		1		Dom	yes		14	14q32.32	207	Mis	v-akt murine thymoma viral oncogene homolog 1			E			"breast, colorectal, ovarian, NSCLC"		0				NS(3)|breast(97)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(7)|lung(10)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|thyroid(10)|urinary_tract(15)	176						c.(967-969)Gac>Tac		v-akt murine thymoma viral oncogene homolog 1	Adenosine triphosphate(DB00171)|Arsenic trioxide(DB01169)						94	67	76					14																	105239420		2203	4300	6503	SO:0001583	missense	207				activation of pro-apoptotic gene products|activation-induced cell death of T cells|endocrine pancreas development|G-protein coupled receptor protein signaling pathway|glucose metabolic process|glycogen biosynthetic process|induction of apoptosis by intracellular signals|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|mRNA metabolic process|negative regulation of fatty acid beta-oxidation|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of protein kinase activity|nerve growth factor receptor signaling pathway|nitric oxide biosynthetic process|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of blood vessel endothelial cell migration|positive regulation of cell growth|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of establishment of protein localization in plasma membrane|positive regulation of fat cell differentiation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of lipid biosynthetic process|positive regulation of nitric oxide biosynthetic process|positive regulation of nitric-oxide synthase activity|positive regulation of peptidyl-serine phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|protein autophosphorylation|protein import into nucleus, translocation|regulation of neuron projection development|regulation of translation|response to fluid shear stress|response to heat|response to UV-A|T cell costimulation	cytosol|nucleoplasm|plasma membrane	enzyme binding|identical protein binding|nitric-oxide synthase regulator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|protein serine/threonine kinase activity	g.chr14:105239420C>A	M63167	CCDS9994.1	14q32.33	2014-09-17			ENSG00000142208	ENSG00000142208	2.7.11.1	"Pleckstrin homology (PH) domain containing"	391	protein-coding gene	gene with protein product		164730					Standard	XM_005267401		Approved	RAC, PKB, PRKBA, AKT	uc001ypn.3	P31749	OTTHUMG00000170795	ENST00000554581.1:c.967G>T	14.37:g.105239420C>A	ENSP00000451828:p.Asp323Tyr					AKT1_ENST00000402615.2_Missense_Mutation_p.D323Y|AKT1_ENST00000349310.3_Missense_Mutation_p.D323Y|AKT1_ENST00000555528.1_Missense_Mutation_p.D323Y|AKT1_ENST00000555458.1_Missense_Mutation_p.D18Y|AKT1_ENST00000554192.1_Intron|AKT1_ENST00000554585.1_5'UTR|AKT1_ENST00000554848.1_Missense_Mutation_p.D323Y|AKT1_ENST00000544168.1_Missense_Mutation_p.D261Y|AKT1_ENST00000407796.2_Missense_Mutation_p.D323Y	p.D323Y			P31749	AKT1_HUMAN	all cancers(16;0.000486)|OV - Ovarian serous cystadenocarcinoma(23;0.00647)|Epithelial(46;0.0153)|GBM - Glioblastoma multiforme(11;0.116)	all cancers(159;0.0107)|OV - Ovarian serous cystadenocarcinoma(161;0.0132)|Epithelial(152;0.243)	10	2447	-		all_cancers(154;3.77e-06)|all_lung(585;3.24e-07)|all_epithelial(191;3.45e-05)|all_neural(303;0.0459)|Melanoma(154;0.155)	323			Protein kinase.		B2RAM5|B7Z5R1|Q9BWB6	Missense_Mutation	SNP	ENST00000554581.1	37	c.967G>T	CCDS9994.1	.	.	.	.	.	.	.	.	.	.	c	21.8	4.198690	0.79015	.	.	ENSG00000142208	ENST00000554581;ENST00000407796;ENST00000349310;ENST00000402615;ENST00000555528;ENST00000555458;ENST00000544168;ENST00000554848	T;T;T;T;T;T;T;T	0.25749	1.78;1.78;1.78;1.78;1.78;1.78;1.78;1.78	3.28	3.28	0.37604	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.38852	0.1056	L	0.33753	1.03	0.80722	D	1	D	0.76494	0.999	D	0.75020	0.985	T	0.40664	-0.9551	10	0.87932	D	0	.	15.0673	0.72005	0.0:1.0:0.0:0.0	.	323	P31749	AKT1_HUMAN	Y	323;323;323;323;323;18;261;323	ENSP00000451828:D323Y;ENSP00000384293:D323Y;ENSP00000270202:D323Y;ENSP00000385326:D323Y;ENSP00000450688:D323Y;ENSP00000451470:D18Y;ENSP00000443897:D261Y;ENSP00000451166:D323Y	ENSP00000270202:D323Y	D	-	1	0	AKT1	104310465	1.000000	0.71417	1.000000	0.80357	0.895000	0.52256	5.714000	0.68422	1.820000	0.53075	0.401000	0.26515	GAC		0.632	AKT1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410418.1	NM_005163		5	48	1	0	0.014758	1	0.0158512	5	48					A	105239420	C	A	105239420	3	1	280	1	0	0	0	0	1	0	0	0	478	855	30	5	491	5	AKT1	14	105239420	Missense_Mutation	SNP	C	TCGA-J4-A83M-01A-11D-A34U-08		105239420	2110120	39	12957											
PALB2	79728	broad.mit.edu	37	chr16	23632759	23632759	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gacctcagcaaaagttagtaTagtctcctcagggggcatca	12	9	10	10	0	4	0	3	0	1	0	5	1	4	0	2	2	1	4	2	2	5	3			TCGA-J4-A83M-01A-11D-A34U-08	TCGA-J4-A83M-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9da3aab7-ebaa-437d-baab-a11571b586d6	a57c0f87-eec2-4a38-998d-294959df3d34	g.chr16:23632759T>C	ENST00000261584.4	-	10	3189	c.3037A>G	c.(3037-3039)Ata>Gta	p.I1013V	CTD-2196E14.3_ENST00000561764.1_RNA	NM_024675.3	NP_078951.2	Q86YC2	PALB2_HUMAN	partner and localizer of BRCA2	1013	Interaction with RAD51, BRCA2 and POLH.|Required for interaction with POLH and POLH DNA synthesis stimulation.				DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|inner cell mass cell proliferation (GO:0001833)|mesoderm development (GO:0007498)|negative regulation of apoptotic process (GO:0043066)|organ morphogenesis (GO:0009887)|post-anal tail morphogenesis (GO:0036342)|somitogenesis (GO:0001756)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(3)	55				GBM - Glioblastoma multiforme(48;0.0167)		AAAGTTAGTATAGTCTCCTCA	0.408			"F, N, Mis"			"Wilms tumor, medulloblastoma, AML ,breast"		Involved in tolerance or repair of DNA crosslinks																														ENST00000261584.4			yes	Rec		"Fanconi anaemia N, breast cancer susceptibility "	16	16p12.1	79728	"F, N, Mis"	partner and localizer of BRCA2			"L, O, E"		"Wilms tumor, medulloblastoma, AML ,breast"			0				breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(3)	55						c.(3037-3039)Ata>Gta	Involved in tolerance or repair of DNA crosslinks	partner and localizer of BRCA2							110	105	107					16																	23632759		2197	4300	6497	SO:0001583	missense	79728				double-strand break repair via homologous recombination	nucleoplasm	DNA binding|protein binding	g.chr16:23632759T>C		CCDS32406.1	16p12.1	2014-09-17				ENSG00000083093		"Fanconi anemia, complementation groups"	26144	protein-coding gene	gene with protein product	"Fanconi anemia, complementation group N"	610355				16793542, 17200672	Standard	NM_024675		Approved	FLJ21816, FANCN	uc002dlx.1	Q86YC2		ENST00000261584.4:c.3037A>G	16.37:g.23632759T>C	ENSP00000261584:p.Ile1013Val					CTD-2196E14.3_ENST00000561764.1_RNA	p.I1013V	NM_024675.3	NP_078951.2	Q86YC2	PALB2_HUMAN		GBM - Glioblastoma multiforme(48;0.0167)	10	3189	-			1013			Interaction with RAD51 and BRCA2.		A6NIE1|Q8N7Y6|Q8ND31|Q9H6W1	Missense_Mutation	SNP	ENST00000261584.4	37	c.3037A>G	CCDS32406.1	.	.	.	.	.	.	.	.	.	.	T	2.335	-0.352394	0.05173	.	.	ENSG00000083093	ENST00000261584	T	0.25579	1.79	5.31	-6.59	0.01830	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.630820	0.16193	N	0.225295	T	0.13157	0.0319	N	0.25144	0.715	0.09310	N	1	B	0.09022	0.002	B	0.14578	0.011	T	0.26744	-1.0094	10	0.12103	T	0.63	-1.7695	14.9729	0.71249	0.0:0.6298:0.0:0.3702	.	1013	Q86YC2	PALB2_HUMAN	V	1013	ENSP00000261584:I1013V	ENSP00000261584:I1013V	I	-	1	0	PALB2	23540260	0.000000	0.05858	0.000000	0.03702	0.114000	0.19823	-2.159000	0.01280	-1.670000	0.01468	-1.466000	0.01016	ATA		0.408	PALB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435287.2	NM_024675		5	56	0	0	0	1	0	5	56					C	23632759	T	C	23632759	3	2	280	1	0	0	0	0	1	0	0	0	11406	1406	49	4	539	4	PALB2	16	23632759	Missense_Mutation	SNP	T	TCGA-J4-A83M-01A-11D-A34U-08		23632759	66721994	40	12958											
ZNF689	115509	broad.mit.edu	37	chr16	30616438	30616438	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggtgctgggagaggttcttgCgctgggagaaacgtttgcca	7	10	17	7	2	1	2	0	0	1	2	1	4	1	2	1	4	4	4	1	4	1	3			TCGA-J4-A83M-01A-11D-A34U-08	TCGA-J4-A83M-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9da3aab7-ebaa-437d-baab-a11571b586d6	a57c0f87-eec2-4a38-998d-294959df3d34	g.chr16:30616438C>T	ENST00000287461.3	-	3	987	c.650G>A	c.(649-651)cGc>cAc	p.R217H	RP11-146F11.5_ENST00000563540.1_RNA|ZNF689_ENST00000566673.1_5'UTR	NM_138447.1	NP_612456.1	Q96CS4	ZN689_HUMAN	zinc finger protein 689	217					regulation of transcription, DNA-templated (GO:0006355)|skeletal muscle cell differentiation (GO:0035914)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|prostate(1)|urinary_tract(1)	14			Colorectal(24;0.198)			GAGGTTCTTGCGCTGGGAGAA	0.607																																						ENST00000287461.3																			0				NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|prostate(1)|urinary_tract(1)	14						c.(649-651)cGc>cAc		zinc finger protein 689							89	80	83					16																	30616438		2197	4300	6497	SO:0001583	missense	115509				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:30616438C>T	BC014000	CCDS10686.1	16p11.2	2013-01-08			ENSG00000156853	ENSG00000156853		"Zinc fingers, C2H2-type", "-"	25173	protein-coding gene	gene with protein product							Standard	NM_138447		Approved	FLJ90415	uc031qvq.1	Q96CS4	OTTHUMG00000132415	ENST00000287461.3:c.650G>A	16.37:g.30616438C>T	ENSP00000287461:p.Arg217His					RP11-146F11.5_ENST00000563540.1_RNA|ZNF689_ENST00000566673.1_5'UTR	p.R217H	NM_138447.1	NP_612456.1	Q96CS4	ZN689_HUMAN	Colorectal(24;0.198)		3	987	-			217					Q658J5	Missense_Mutation	SNP	ENST00000287461.3	37	c.650G>A	CCDS10686.1	.	.	.	.	.	.	.	.	.	.	c	17.51	3.407875	0.62399	.	.	ENSG00000156853	ENST00000287461;ENST00000443190	T	0.15834	2.39	4.75	3.77	0.43336	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.38663	N	0.001615	T	0.25082	0.0609	L	0.41356	1.27	0.32610	N	0.524687	D	0.76494	0.999	P	0.59357	0.856	T	0.08126	-1.0737	10	0.36615	T	0.2	-21.8544	11.0471	0.47865	0.0:0.9065:0.0:0.0935	.	217	Q96CS4	ZN689_HUMAN	H	217	ENSP00000287461:R217H	ENSP00000287461:R217H	R	-	2	0	ZNF689	30523939	0.000000	0.05858	1.000000	0.80357	0.854000	0.48673	0.477000	0.22196	2.469000	0.83416	0.455000	0.32223	CGC		0.607	ZNF689-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255552.1	NM_138447		16	43	0	0	0	1	0	16	43					T	30616438	C	T	30616438	3	4	280	1	0	0	0	0	1	0	0	0	18091	768	27	1	856	1	ZNF689	16	30616438	Missense_Mutation	SNP	C	TCGA-J4-A83M-01A-11D-A34U-08	6983679	30616438	59738315	41	12959											
CCL11	6356	broad.mit.edu	37	chr17	32614638	32614638	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tggccaaggatatctgtgccGaccccaagaagaagtgggtg	11	7	14	9	1	1	2	0	0	1	2	1	4	1	3	4	3	1	0	4	3	5	1	rs56358892		TCGA-J4-A83M-01A-11D-A34U-08	TCGA-J4-A83M-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9da3aab7-ebaa-437d-baab-a11571b586d6	a57c0f87-eec2-4a38-998d-294959df3d34	g.chr17:32614638G>A	ENST00000305869.3	+	3	364	c.223G>A	c.(223-225)Gac>Aac	p.D75N		NM_002986.2	NP_002977.1	P51671	CCL11_HUMAN	chemokine (C-C motif) ligand 11	75					actin filament organization (GO:0007015)|branching involved in mammary gland duct morphogenesis (GO:0060444)|cell adhesion (GO:0007155)|cellular calcium ion homeostasis (GO:0006874)|chemotaxis (GO:0006935)|chronic inflammatory response (GO:0002544)|cytoskeleton organization (GO:0007010)|eosinophil chemotaxis (GO:0048245)|ERK1 and ERK2 cascade (GO:0070371)|immune response (GO:0006955)|inflammatory response (GO:0006954)|mammary duct terminal end bud growth (GO:0060763)|mast cell chemotaxis (GO:0002551)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of Rac GTPase activity (GO:0032855)|protein phosphorylation (GO:0006468)|regulation of cell shape (GO:0008360)|response to interleukin-4 (GO:0070670)|response to radiation (GO:0009314)|response to virus (GO:0009615)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	chemokine activity (GO:0008009)			breast(1)|lung(1)|prostate(1)	3	Breast(3;0.00224)	Breast(31;0.151)|Ovarian(249;0.17)		BRCA - Breast invasive adenocarcinoma(366;0.155)		TATCTGTGCCGACCCCAAGAA	0.423																																						ENST00000305869.3																			0				breast(1)|lung(1)|prostate(1)	3						c.(223-225)Gac>Aac		chemokine (C-C motif) ligand 11							77	71	73					17																	32614638		2203	4300	6503	SO:0001583	missense	6356				cell adhesion|cellular calcium ion homeostasis|immune response|positive regulation of actin filament polymerization|positive regulation of cell migration|positive regulation of endothelial cell proliferation|positive regulation of Rac GTPase activity|protein phosphorylation|response to radiation|response to virus|signal transduction	extracellular space	chemokine activity	g.chr17:32614638G>A	AB063614	CCDS11279.1	17q21.1-q21.2	2013-02-25	2002-08-22	2002-08-23	ENSG00000172156	ENSG00000172156		"Chemokine ligands", "Endogenous ligands"	10610	protein-coding gene	gene with protein product	"eotaxin-1"	601156	"small inducible cytokine subfamily A (Cys-Cys), member 11 (eotaxin)"	SCYA11		9169149	Standard	NM_002986		Approved	eotaxin, MGC22554	uc002hia.1	P51671	OTTHUMG00000132884	ENST00000305869.3:c.223G>A	17.37:g.32614638G>A	ENSP00000302234:p.Asp75Asn						p.D75N	NM_002986.2	NP_002977.1	P51671	CCL11_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.155)	3	364	+	Breast(3;0.00224)	Breast(31;0.151)|Ovarian(249;0.17)	75					P50877|Q92490|Q92491	Missense_Mutation	SNP	ENST00000305869.3	37	c.223G>A	CCDS11279.1	.	.	.	.	.	.	.	.	.	.	G	16.46	3.129359	0.56721	.	.	ENSG00000172156	ENST00000305869	T	0.04317	3.65	5.1	3.12	0.35913	Chemokine interleukin-8-like domain (3);	0.000000	0.56097	D	0.000031	T	0.11623	0.0283	.	.	.	0.28630	N	0.907725	D	0.89917	1.0	D	0.63793	0.918	T	0.02301	-1.1180	9	0.38643	T	0.18	.	7.1568	0.25643	0.1921:0.0:0.8079:0.0	rs56358892	75	P51671	CCL11_HUMAN	N	75	ENSP00000302234:D75N	ENSP00000302234:D75N	D	+	1	0	CCL11	29638751	0.319000	0.24607	0.990000	0.47175	0.591000	0.36615	0.386000	0.20702	1.525000	0.49052	0.561000	0.74099	GAC		0.423	CCL11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256377.2	NM_002986		6	28	0	0	0	1	0	6	28					A	32614638	G	A	32614638	3	1	280	1	0	0	0	0	1	0	0	0	2883	1058	37	2	233	2	CCL11	17	32614638	Missense_Mutation	SNP	G	TCGA-J4-A83M-01A-11D-A34U-08		32614638	48580572	42	12960											
ACACA	31	broad.mit.edu	37	chr17	35536315	35536315	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagatggaagaaatgcttgAgtggacatagactcccagag	14	7	14	6	0	0	5	0	1	0	4	1	8	1	7	1	3	1	1	1	3	3	2			TCGA-J4-A83M-01A-11D-A34U-08	TCGA-J4-A83M-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9da3aab7-ebaa-437d-baab-a11571b586d6	a57c0f87-eec2-4a38-998d-294959df3d34	g.chr17:35536315A>T	ENST00000394406.2	-	41	5044	c.4854T>A	c.(4852-4854)acT>acA	p.T1618T	ACACA_ENST00000353139.5_Silent_p.T1655T|ACACA_ENST00000335166.5_Silent_p.T1540T|ACACA_ENST00000360679.3_Silent_p.T1560T	NM_198836.1	NP_942133.1	Q13085	ACACA_HUMAN	acetyl-CoA carboxylase alpha	1618					acetyl-CoA metabolic process (GO:0006084)|biotin metabolic process (GO:0006768)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|lipid homeostasis (GO:0055088)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|malonyl-CoA biosynthetic process (GO:2001295)|multicellular organismal protein metabolic process (GO:0044268)|positive regulation of cellular metabolic process (GO:0031325)|protein homotetramerization (GO:0051289)|small molecule metabolic process (GO:0044281)|tissue homeostasis (GO:0001894)|triglyceride biosynthetic process (GO:0019432)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	acetyl-CoA carboxylase activity (GO:0003989)|ATP binding (GO:0005524)|biotin carboxylase activity (GO:0004075)|metal ion binding (GO:0046872)			NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	GAAATGCTTGAGTGGACATAG	0.413																																					Colon(23;82 258 739 2117 10493 24037 27661 34815 35438 36249)	ENST00000353139.5																			0				NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83						c.(4963-4965)acT>acA		acetyl-CoA carboxylase alpha	Biotin(DB00121)						114	105	108					17																	35536315		2203	4300	6503	SO:0001819	synonymous_variant	31				acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding	g.chr17:35536315A>T	U19822	CCDS11317.1, CCDS11318.1, CCDS42302.1, CCDS42303.1	17q21	2014-05-06	2010-04-30		ENSG00000132142	ENSG00000278540	6.4.1.2		84	protein-coding gene	gene with protein product	"acetyl-CoA carboxylase 1"	200350	"acetyl-Coenzyme A carboxylase alpha"	ACAC, ACC			Standard	NM_198837		Approved	ACC1	uc002hno.3	Q13085	OTTHUMG00000188463	ENST00000394406.2:c.4854T>A	17.37:g.35536315A>T						ACACA_ENST00000394406.2_Silent_p.T1618T|ACACA_ENST00000360679.3_Silent_p.T1560T|ACACA_ENST00000335166.5_Silent_p.T1540T	p.T1655T	NM_198834.1|NM_198839.1	NP_942131.1|NP_942136.1	Q13085	ACACA_HUMAN			41	5446	-		Breast(25;0.00157)|Ovarian(249;0.15)	1618					B2RP68|Q6KEV6|Q6XDA8|Q7Z2G8|Q7Z561|Q7Z563|Q7Z564|Q86WB2|Q86WB3	Silent	SNP	ENST00000394406.2	37	c.4965T>A	CCDS11317.1																																																																																				0.413	ACACA-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256696.1	NM_198836		9	34	0	0	0	1	0	9	34					T	35536315	A	T	35536315	2	4	280	1	0	0	0	0	0	0	0	1	106	291	11	5		5	ACACA	17	35536315	Silent	SNP	A	TCGA-J4-A83M-01A-11D-A34U-08	2921677	35536315	45658895	43	12961											
DNAH17	8632	broad.mit.edu	37	chr17	76510934	76510934	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgctcacggcacgcagggaCgtgatcacgtttttcacggt	7	10	12	12	6	3	1	3	1	0	0	4	2	3	2	0	3	0	4	0	3	0	2	rs539639486		TCGA-J4-A83M-01A-11D-A34U-08	TCGA-J4-A83M-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9da3aab7-ebaa-437d-baab-a11571b586d6	a57c0f87-eec2-4a38-998d-294959df3d34	g.chr17:76510934C>T	ENST00000585328.1	-	26	4150	c.4026G>A	c.(4024-4026)acG>acA	p.T1342T	DNAH17_ENST00000389840.5_Silent_p.T1341T	NM_173628.3	NP_775899.3	Q9UFH2	DYH17_HUMAN	dynein, axonemal, heavy chain 17	1341	Stem. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			CACGCAGGGACGTGATCACGT	0.572													.|||	1	0.000199681	8e-04	0	5008	,	,		18254	0		0	False		,,,				2504	0					ENST00000389840.5																			0				NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116						c.(4021-4023)acG>acA		dynein, axonemal, heavy chain 17							131	135	133					17																	76510934		2131	4243	6374	SO:0001819	synonymous_variant	8632							g.chr17:76510934C>T	AJ000522		17q25.3	2012-04-19	2006-09-04		ENSG00000187775	ENSG00000187775		"Axonemal dyneins"	2946	protein-coding gene	gene with protein product		610063	"dynein, axonemal, heavy polypeptide 17", "dynein, axonemal, heavy chain like 1", "dynein, axonemal, heavy like 1"	DNAHL1		9545504	Standard	NM_173628		Approved	DNEL2, FLJ40457	uc010dhp.2	Q9UFH2		ENST00000585328.1:c.4026G>A	17.37:g.76510934C>T						DNAH17_ENST00000585328.1_Silent_p.T1342T	p.T1341T					BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)		26	4147	-								O00431|O15206|Q2M2Y1|Q6ZRQ2|Q8N7Q7	Silent	SNP	ENST00000585328.1	37	c.4023G>A																																																																																					0.572	DNAH17-001	PUTATIVE	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000318962.2	NM_173628		18	57	0	0	0	1	0	18	57					T	76510934	C	T	76510934	2	4	280	1	0	0	0	0	0	0	0	1	4601	523	19	1		1	DNAH17	17	76510934	Silent	SNP	C	TCGA-J4-A83M-01A-11D-A34U-08	40974619	76510934	4684276	44	12962											
LAMA3	3909	broad.mit.edu	37	chr18	21330980	21330980	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gcaacaaacatccgcttgcgTtttcttagaaccaatacgct	12	11	6	12	3	1	1	0	0	1	1	2	1	2	1	2	0	5	4	2	0	6	5			TCGA-J4-A83M-01A-11D-A34U-08	TCGA-J4-A83M-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9da3aab7-ebaa-437d-baab-a11571b586d6	a57c0f87-eec2-4a38-998d-294959df3d34	g.chr18:21330980T>C	ENST00000313654.9	+	5	1024	c.783T>C	c.(781-783)cgT>cgC	p.R261R	LAMA3_ENST00000399516.3_Silent_p.R261R	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	261	Laminin N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00466}.				cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-5 complex (GO:0005610)	structural molecule activity (GO:0005198)			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)					TCCGCTTGCGTTTTCTTAGAA	0.468																																						ENST00000313654.9																			0				NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128						c.(781-783)cgT>cgC		laminin, alpha 3	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						117	115	116					18																	21330980		1887	4118	6005	SO:0001819	synonymous_variant	3909				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	g.chr18:21330980T>C	L34155	CCDS11880.1, CCDS42419.1, CCDS45838.1, CCDS59307.1	18q11.2	2013-03-01	2002-08-29		ENSG00000053747	ENSG00000053747		"Laminins"	6483	protein-coding gene	gene with protein product		600805	"laminin, alpha 3 (nicein (150kD), kalinin (165kD), BM600 (150kD), epilegrin)"	LAMNA		8077230	Standard	NM_000227		Approved	nicein-150kDa, kalinin-165kDa, BM600-150kDa, epiligrin	uc002kuq.3	Q16787	OTTHUMG00000131874	ENST00000313654.9:c.783T>C	18.37:g.21330980T>C						LAMA3_ENST00000399516.3_Silent_p.R261R	p.R261R	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN			5	1024	+	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)		261			Laminin N-terminal.		B0YJ33|Q13679|Q13680|Q6VU67|Q6VU68|Q6VU69|Q76E14|Q96TG0	Silent	SNP	ENST00000313654.9	37	c.783T>C	CCDS42419.1	.	.	.	.	.	.	.	.	.	.	T	8.895	0.955053	0.18507	.	.	ENSG00000053747	ENST00000416669	.	.	.	5.64	1.39	0.22231	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.9699	0.24642	0.0:0.0889:0.2753:0.6358	.	.	.	.	.	-1	.	.	.	+	.	.	LAMA3	19584978	0.828000	0.29307	0.998000	0.56505	0.716000	0.41182	-0.108000	0.10857	-0.006000	0.14370	-0.313000	0.08912	.		0.468	LAMA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254824.3	NM_000227, NM_198129		4	98	0	0	0	1	0	4	98					C	21330980	T	C	21330980	2	2	280	1	0	0	0	0	0	0	0	1	8607	1712	60	4		4	LAMA3	18	21330980	Silent	SNP	T	TCGA-J4-A83M-01A-11D-A34U-08		21330980	56746268	45	12963											
DUS3L	56931	broad.mit.edu	37	chr19	5790154	5790154	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cgggccctcttctgagtctgTagctgctccccgggctctgc	2	11	12	16	2	4	1	0	1	4	0	5	1	5	1	3	2	3	4	3	2	1	2			TCGA-J4-A83M-01A-11D-A34U-08	TCGA-J4-A83M-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9da3aab7-ebaa-437d-baab-a11571b586d6	a57c0f87-eec2-4a38-998d-294959df3d34	g.chr19:5790154T>C	ENST00000309061.7	-	2	387	c.291A>G	c.(289-291)ctA>ctG	p.L97L	DUS3L_ENST00000590681.1_5'UTR|DUS3L_ENST00000320699.8_Intron	NM_020175.2	NP_064560.2	Q96G46	DUS3L_HUMAN	dihydrouridine synthase 3-like (S. cerevisiae)	97							flavin adenine dinucleotide binding (GO:0050660)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|tRNA dihydrouridine synthase activity (GO:0017150)			endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(2)	14						TCTGAGTCTGTAGCTGCTCCC	0.627																																						ENST00000309061.7																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(2)	14						c.(289-291)ctA>ctG		dihydrouridine synthase 3-like (S. cerevisiae)							72	73	73					19																	5790154		2203	4300	6503	SO:0001819	synonymous_variant	56931				tRNA processing		flavin adenine dinucleotide binding|nucleic acid binding|tRNA dihydrouridine synthase activity|zinc ion binding	g.chr19:5790154T>C		CCDS32880.1, CCDS54202.1	19p13.3	2014-02-12			ENSG00000141994	ENSG00000141994			26920	protein-coding gene	gene with protein product						12477932	Standard	NM_020175		Approved	DUS3, FLJ13896	uc002mdc.3	Q96G46	OTTHUMG00000162311	ENST00000309061.7:c.291A>G	19.37:g.5790154T>C						DUS3L_ENST00000320699.8_Intron|DUS3L_ENST00000590681.1_5'UTR	p.L97L	NM_020175.2	NP_064560.2	Q96G46	DUS3L_HUMAN			2	387	-			97					Q96HM5|Q9BSU4|Q9H877|Q9NPR1	Silent	SNP	ENST00000309061.7	37	c.291A>G	CCDS32880.1																																																																																				0.627	DUS3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451870.2	NM_020175		15	37	0	0	0	1	0	15	37					C	5790154	T	C	5790154	2	2	280	1	0	0	0	0	0	0	0	1	4807	1625	57	4		4	DUS3L	19	5790154	Silent	SNP	T	TCGA-J4-A83M-01A-11D-A34U-08		5790154	53338829	46	12964											
MED15	51586	broad.mit.edu	37	chr22	20937036	20937036	+	Splice_Site	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agcccaactccaacgtcaggTaggcctggcctggggtgccc	7	6	13	15	1	1	0	1	0	0	0	2	0	2	0	5	5	4	1	5	5	3	1			TCGA-J4-A83M-01A-11D-A34U-08	TCGA-J4-A83M-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9da3aab7-ebaa-437d-baab-a11571b586d6	a57c0f87-eec2-4a38-998d-294959df3d34	g.chr22:20937036T>A	ENST00000263205.7	+	10	1478		c.e10+2		MED15_ENST00000292733.7_Splice_Site|MED15_ENST00000542773.1_Intron|MED15_ENST00000478831.1_Intron|MED15_ENST00000382974.2_Splice_Site|MED15_ENST00000425759.2_Splice_Site|MED15_ENST00000406969.1_Splice_Site|MED15_ENST00000541476.1_Splice_Site	NM_001003891.1	NP_001003891.1	Q96RN5	MED15_HUMAN	mediator complex subunit 15						gene expression (GO:0010467)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	RNA polymerase II transcription cofactor activity (GO:0001104)			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	25	all_cancers(11;2.07e-24)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)|Epithelial(17;0.209)			CAACGTCAGGTAGGCCTGGCC	0.716																																						ENST00000263205.7																			0				central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	25						c.e10+2		mediator complex subunit 15							33	41	38					22																	20937036		2197	4294	6491	SO:0001630	splice_region_variant	51586				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|mediator complex	protein binding	g.chr22:20937036T>A	AF056191	CCDS13781.1, CCDS33602.1, CCDS74824.1	22q11.2	2007-07-30	2007-07-30	2007-07-30	ENSG00000099917	ENSG00000099917			14248	protein-coding gene	gene with protein product		607372	"trinucleotide repeat containing 7", "PC2 (positive cofactor 2, multiprotein complex) glutamine/Q-rich-associated protein"	TNRC7, PCQAP		11024300, 11414760, 15175163	Standard	XM_005261632		Approved	TIG-1, CAG7A, Arc105	uc002zsp.3	Q96RN5	OTTHUMG00000150810	ENST00000263205.7:c.1409+2T>A	22.37:g.20937036T>A						MED15_ENST00000382974.2_Splice_Site|MED15_ENST00000542773.1_Intron|MED15_ENST00000292733.7_Splice_Site|MED15_ENST00000541476.1_Splice_Site|MED15_ENST00000425759.2_Splice_Site|MED15_ENST00000406969.1_Splice_Site|MED15_ENST00000478831.1_Intron		NM_001003891.1	NP_001003891.1	Q96RN5	MED15_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)|Epithelial(17;0.209)		10	1478	+	all_cancers(11;2.07e-24)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)						D3DX31|D3DX32|O15413|Q6IC31|Q8NF16|Q96CT0|Q96IH7|Q9P1T3	Splice_Site	SNP	ENST00000263205.7	37		CCDS33602.1	.	.	.	.	.	.	.	.	.	.	T	21.0	4.077809	0.76528	.	.	ENSG00000099917	ENST00000425759;ENST00000292733;ENST00000263205;ENST00000406969;ENST00000382974;ENST00000541476;ENST00000542312	.	.	.	5.49	5.49	0.81192	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.5229	0.61578	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	MED15	19267036	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	5.672000	0.68102	2.080000	0.62538	0.459000	0.35465	.		0.716	MED15-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000320177.2	NM_015889	Intron	4	38	0	0	0	1	0	4	38					A	20937036	T	A	20937036	5	1	280	1	0	0	0	0	0	0	1	0	9433	1652	57	5	1449	5	MED15	22	20937036	Splice_Site	SNP	T	TCGA-J4-A83M-01A-11D-A34U-08		20937036	30367530	47	12965											
LRRC7	57554	broad.mit.edu	37	chr1	70484494	70484494	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttccccagcagcctcgtggTgatgaaggtaaattgtcagt	9	12	11	9	1	1	2	1	2	0	0	3	2	2	2	3	2	2	2	3	2	3	3			TCGA-J4-A83N-01A-11D-A34U-08	TCGA-J4-A83N-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc3cdabd-8915-4d8e-99f6-84a7fa9bd27a	67b19aa7-53d6-481f-9a70-6667a6dfd141	g.chr1:70484494T>C	ENST00000035383.5	+	13	1329	c.1299T>C	c.(1297-1299)ggT>ggC	p.G433G	LRRC7_ENST00000310961.5_Silent_p.G438G|LRRC7_ENST00000415775.2_5'UTR|RP11-181B18.1_ENST00000414132.1_RNA|RP11-181B18.1_ENST00000425754.1_RNA	NM_020794.2	NP_065845.1	Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	433						cell junction (GO:0030054)|cytoplasm (GO:0005737)|postsynaptic membrane (GO:0045211)				breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						AGCCTCGTGGTGATGAAGGTA	0.393																																						ENST00000310961.5																			0				breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						c.(1312-1314)ggT>ggC		leucine rich repeat containing 7							94	86	89					1																	70484494		2203	4300	6503	SO:0001819	synonymous_variant	57554					centrosome|focal adhesion|nucleolus	protein binding	g.chr1:70484494T>C		CCDS645.1	1p31.1	2008-02-05			ENSG00000033122	ENSG00000033122			18531	protein-coding gene	gene with protein product		614453				12525888	Standard	NM_020794		Approved	KIAA1365, densin-180	uc001dep.3	Q96NW7	OTTHUMG00000059194	ENST00000035383.5:c.1299T>C	1.37:g.70484494T>C						LRRC7_ENST00000035383.5_Silent_p.G433G|LRRC7_ENST00000415775.2_5'UTR|RP11-181B18.1_ENST00000414132.1_RNA	p.G438G			Q96NW7	LRRC7_HUMAN			16	1732	+			433					Q5VXC2|Q5VXC3|Q68D07|Q86VE8|Q8WX20|Q9P2I2	Silent	SNP	ENST00000035383.5	37	c.1314T>C	CCDS645.1																																																																																				0.393	LRRC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131261.1	NM_020794		8	27	0	0	0	1	0	8	27					C	70484494	T	C	70484494	2	2	281	1	0	0	0	0	0	0	0	1	9020	1683	59	4		4	LRRC7	1	70484494	Silent	SNP	T	TCGA-J4-A83N-01A-11D-A34U-08		70484494	178766127	1	12966											
KIRREL	55243	broad.mit.edu	37	chr1	158064805	158064805	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gagcggaccccatatgaggcGtatgaccccattggcaagta	11	7	12	11	2	0	2	0	2	0	0	0	4	0	3	4	3	1	3	4	3	4	4			TCGA-J4-A83N-01A-11D-A34U-08	TCGA-J4-A83N-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc3cdabd-8915-4d8e-99f6-84a7fa9bd27a	67b19aa7-53d6-481f-9a70-6667a6dfd141	g.chr1:158064805G>A	ENST00000359209.6	+	15	2236	c.2169G>A	c.(2167-2169)gcG>gcA	p.A723A	KIRREL_ENST00000360089.4_Silent_p.A559A|KIRREL_ENST00000368172.1_Silent_p.A537A|KIRREL_ENST00000392272.2_Silent_p.A620A|KIRREL_ENST00000416935.2_Silent_p.A623A|KIRREL_ENST00000368173.3_Silent_p.A739A			Q96J84	KIRR1_HUMAN	kin of IRRE like (Drosophila)	723					excretion (GO:0007588)|negative regulation of protein phosphorylation (GO:0001933)|positive regulation of actin filament polymerization (GO:0030838)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|dendritic shaft (GO:0043198)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	myosin binding (GO:0017022)			NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(5)|skin(3)|stomach(1)	38	all_hematologic(112;0.0378)					CATATGAGGCGTATGACCCCA	0.637																																						ENST00000368172.1																			0				NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(5)|skin(3)|stomach(1)	38						c.(1609-1611)gcG>gcA		kin of IRRE like (Drosophila)							45	41	42					1																	158064805		2203	4300	6503	SO:0001819	synonymous_variant	55243					integral to membrane		g.chr1:158064805G>A	AK001707	CCDS1172.2, CCDS72952.1	1q21-q25	2013-01-29			ENSG00000183853	ENSG00000183853		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	15734	protein-coding gene	gene with protein product	"nephrin-like protein 1"	607428				12424224	Standard	NM_001286349		Approved	NEPH1	uc001frn.4	Q96J84	OTTHUMG00000022438	ENST00000359209.6:c.2169G>A	1.37:g.158064805G>A						KIRREL_ENST00000359209.6_Silent_p.A723A|KIRREL_ENST00000368173.3_Silent_p.A739A|KIRREL_ENST00000360089.4_Silent_p.A559A|KIRREL_ENST00000392272.2_Silent_p.A620A|KIRREL_ENST00000416935.2_Silent_p.A623A	p.A537A			Q96J84	KIRR1_HUMAN			11	1623	+	all_hematologic(112;0.0378)		723					Q5W0F8|Q5XKC6|Q7Z696|Q7Z7N8|Q8TB15|Q9H9N1|Q9NVA5	Silent	SNP	ENST00000359209.6	37	c.1611G>A	CCDS1172.2																																																																																				0.637	KIRREL-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058342.3	NM_018240		3	12	0	0	0	1	0	3	12					A	158064805	G	A	158064805	2	1	281	1	0	0	0	0	0	0	0	1	8324	1132	40	1		1	KIRREL	1	158064805	Silent	SNP	G	TCGA-J4-A83N-01A-11D-A34U-08	87580311	158064805	91185816	2	12967											
XDH	7498	broad.mit.edu	37	chr2	31604515	31604515	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcacctctggacacaagtgtCagcttggccccactggccat	8	9	9	15	0	3	0	2	0	1	0	3	1	3	1	4	3	1	1	4	3	1	1			TCGA-J4-A83N-01A-11D-A34U-08	TCGA-J4-A83N-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc3cdabd-8915-4d8e-99f6-84a7fa9bd27a	67b19aa7-53d6-481f-9a70-6667a6dfd141	g.chr2:31604515C>T	ENST00000379416.3	-	12	1164	c.1116G>A	c.(1114-1116)ctG>ctA	p.L372L	XDH_ENST00000491727.1_5'Flank	NM_000379.3	NP_000370.2	P47989	XDH_HUMAN	xanthine dehydrogenase	372	FAD-binding PCMH-type. {ECO:0000255|PROSITE-ProRule:PRU00718}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|lactation (GO:0007595)|negative regulation of endothelial cell differentiation (GO:0045602)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of gene expression (GO:0010629)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of vascular endothelial growth factor signaling pathway (GO:1900747)|negative regulation of vasculogenesis (GO:2001213)|nucleobase-containing small molecule metabolic process (GO:0055086)|positive regulation of p38MAPK cascade (GO:1900745)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide catabolic process (GO:0006195)|small molecule metabolic process (GO:0044281)|xanthine catabolic process (GO:0009115)	cytosol (GO:0005829)|extracellular space (GO:0005615)|peroxisome (GO:0005777)	2 iron, 2 sulfur cluster binding (GO:0051537)|electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|iron ion binding (GO:0005506)|molybdopterin cofactor binding (GO:0043546)|protein homodimerization activity (GO:0042803)|UDP-N-acetylmuramate dehydrogenase activity (GO:0008762)|xanthine dehydrogenase activity (GO:0004854)|xanthine oxidase activity (GO:0004855)			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74	Acute lymphoblastic leukemia(172;0.155)				Aldesleukin(DB00041)|Allopurinol(DB00437)|Azathioprine(DB00993)|Carboplatin(DB00958)|Carvedilol(DB01136)|Chlorphenesin(DB00856)|Cisplatin(DB00515)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Doxorubicin(DB00997)|Flavin adenine dinucleotide(DB03147)|L-Carnitine(DB00583)|Menadione(DB00170)|Mercaptopurine(DB01033)|Nitrofural(DB00336)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Spermine(DB00127)|Trifluoperazine(DB00831)	ACACAAGTGTCAGCTTGGCCC	0.537																																					Colon(66;682 1445 30109 40147)	ENST00000379416.3																			0				breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74						c.(1114-1116)ctG>ctA		xanthine dehydrogenase	Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163)						77	72	74					2																	31604515		2203	4300	6503	SO:0001819	synonymous_variant	7498				purine nucleotide catabolic process|xanthine catabolic process	cytosol|extracellular region|peroxisome	2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity	g.chr2:31604515C>T	D11456	CCDS1775.1	2p23.1	2009-07-10	2003-03-20		ENSG00000158125	ENSG00000158125	1.17.1.4		12805	protein-coding gene	gene with protein product		607633	"xanthene dehydrogenase"			8224915	Standard	NM_000379		Approved	XOR, XO	uc002rnv.1	P47989	OTTHUMG00000099385	ENST00000379416.3:c.1116G>A	2.37:g.31604515C>T							p.L372L	NM_000379.3	NP_000370.2	P47989	XDH_HUMAN			12	1164	-	Acute lymphoblastic leukemia(172;0.155)		372			FAD-binding PCMH-type.		Q16681|Q16712|Q4PJ16	Silent	SNP	ENST00000379416.3	37	c.1116G>A	CCDS1775.1																																																																																				0.537	XDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216840.1	NM_000379		4	18	0	0	0	1	0	4	18					T	31604515	C	T	31604515	2	4	281	1	0	0	0	0	0	0	0	1	17423	813	29	3		3	XDH	2	31604515	Silent	SNP	C	TCGA-J4-A83N-01A-11D-A34U-08		31604515	211594858	3	12968											
KIAA1486	57624	broad.mit.edu	37	chr2	226378223	226378223	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcttttctgtgagatcacagTccctgcactcggttgggggc	5	12	13	11	1	2	1	1	1	1	1	4	2	3	1	1	3	1	3	1	3	0	3			TCGA-J4-A83N-01A-11D-A34U-08	TCGA-J4-A83N-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc3cdabd-8915-4d8e-99f6-84a7fa9bd27a	67b19aa7-53d6-481f-9a70-6667a6dfd141	g.chr2:226378223T>C	ENST00000272907.6	+	3	771	c.358T>C	c.(358-360)Tcc>Ccc	p.S120P	NYAP2_ENST00000409269.2_Intron	NM_020864.1	NP_065915.1	Q9P242	NYAP2_HUMAN	neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2	120					neuron projection morphogenesis (GO:0048812)|phosphatidylinositol 3-kinase signaling (GO:0014065)												GAGATCACAGTCCCTGCACTC	0.567																																						ENST00000272907.6																			0											c.(358-360)Tcc>Ccc		neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2							66	75	72					2																	226378223		2107	4224	6331	SO:0001583	missense	57624							g.chr2:226378223T>C	AB040919	CCDS46529.1	2q36.3	2011-11-30	2011-11-30	2011-11-30	ENSG00000144460	ENSG00000144460			29291	protein-coding gene	gene with protein product		615478	"KIAA1486"	KIAA1486		10819331, 21946561	Standard	NM_020864		Approved		uc002voe.2	Q9P242	OTTHUMG00000153450	ENST00000272907.6:c.358T>C	2.37:g.226378223T>C	ENSP00000272907:p.Ser120Pro					NYAP2_ENST00000409269.2_Intron	p.S120P	NM_020864.1	NP_065915.1	Q9P242	K1486_HUMAN			3	771	+			120					A2RRN4|Q96NL2	Missense_Mutation	SNP	ENST00000272907.6	37	c.358T>C	CCDS46529.1	.	.	.	.	.	.	.	.	.	.	T	26.7	4.766658	0.90020	.	.	ENSG00000144460	ENST00000272907	T	0.54675	0.56	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	T	0.72542	0.3473	M	0.79123	2.44	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	T	0.73694	-0.3902	10	0.41790	T	0.15	-13.4026	15.6398	0.76989	0.0:0.0:0.0:1.0	.	120	Q9P242	K1486_HUMAN	P	120	ENSP00000272907:S120P	ENSP00000272907:S120P	S	+	1	0	KIAA1486	226086467	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	7.638000	0.83328	2.094000	0.63399	0.460000	0.39030	TCC		0.567	NYAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331258.1	NM_020864		3	29	0	0	0	1	0	3	29					C	226378223	T	C	226378223	3	2	281	1	0	0	0	0	1	0	0	0	8237	1667	58	4	364	4	KIAA1486	2	226378223	Missense_Mutation	SNP	T	TCGA-J4-A83N-01A-11D-A34U-08	194773708	226378223	16821150	4	12969											
KIF1A	547	broad.mit.edu	37	chr2	241658545	241658545	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ataggggcgccgcaccaccaCgaagcgcctggcccagcctg	8	3	13	17	4	0	0	0	0	0	0	0	1	0	0	6	3	2	1	6	3	2	1			TCGA-J4-A83N-01A-11D-A34U-08	TCGA-J4-A83N-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc3cdabd-8915-4d8e-99f6-84a7fa9bd27a	67b19aa7-53d6-481f-9a70-6667a6dfd141	g.chr2:241658545C>T	ENST00000320389.7	-	45	4947	c.4789G>A	c.(4789-4791)Gtg>Atg	p.V1597M	KIF1A_ENST00000498729.2_Missense_Mutation_p.V1698M	NM_004321.6	NP_004312.2	Q12756	KIF1A_HUMAN	kinesin family member 1A	1597	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				anterograde axon cargo transport (GO:0008089)|ATP catabolic process (GO:0006200)|cell death (GO:0008219)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|motor activity (GO:0003774)|plus-end-directed microtubule motor activity (GO:0008574)			NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)		CGCACCACCACGAAGCGCCTG	0.632																																						ENST00000498729.2																			0				NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66						c.(5092-5094)Gtg>Atg		kinesin family member 1A							84	98	93					2																	241658545		2143	4265	6408	SO:0001583	missense	547				anterograde axon cargo transport	cytoplasm|microtubule|nucleus	ATP binding|microtubule motor activity	g.chr2:241658545C>T	AF004425	CCDS46561.1, CCDS58757.1	2q37.2	2014-09-17	2004-01-09	2004-01-14	ENSG00000130294	ENSG00000130294		"Kinesins", "Pleckstrin homology (PH) domain containing"	888	protein-coding gene	gene with protein product		601255	"axonal transport of synaptic vesicles", "chromosome 2 open reading frame 20", "spastic paraplegia 30 (autosomal recessive)"	ATSV, C2orf20, SPG30		7539720, 10323250, 22258533	Standard	NM_001244008		Approved	UNC104	uc010fzk.3	Q12756	OTTHUMG00000151940	ENST00000320389.7:c.4789G>A	2.37:g.241658545C>T	ENSP00000322791:p.Val1597Met					KIF1A_ENST00000320389.7_Missense_Mutation_p.V1597M	p.V1698M	NM_001244008.1	NP_001230937.1	Q12756	KIF1A_HUMAN		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)	47	5338	-		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)	1597					B0I1S5|F5H045|O95068|Q13355|Q14752|Q2NKJ6|Q4LE42|Q53T78|Q59GH1|Q63Z40|Q6P1R9|Q7KZ57	Missense_Mutation	SNP	ENST00000320389.7	37	c.5092G>A	CCDS46561.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.238030	0.79800	.	.	ENSG00000130294	ENST00000320389;ENST00000498729;ENST00000373308	T;T	0.14391	2.51;2.51	4.06	4.06	0.47325	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.147277	0.44902	U	0.000417	T	0.40272	0.1110	M	0.83118	2.625	0.46564	D	0.999108	D;D	0.76494	0.999;0.998	D;D	0.68943	0.961;0.937	T	0.50816	-0.8783	10	0.87932	D	0	.	16.24	0.82402	0.0:1.0:0.0:0.0	.	1698;1597	F5H045;Q12756	.;KIF1A_HUMAN	M	1597;1698;1706	ENSP00000322791:V1597M;ENSP00000438388:V1698M	ENSP00000322791:V1597M	V	-	1	0	KIF1A	241307218	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	4.605000	0.61119	1.818000	0.53035	0.467000	0.42956	GTG		0.632	KIF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324536.3	NM_138483		39	109	0	0	0	1	0	39	109					T	241658545	C	T	241658545	3	4	281	1	0	0	0	0	1	0	0	0	8283	536	19	1	295	1	KIF1A	2	241658545	Missense_Mutation	SNP	C	TCGA-J4-A83N-01A-11D-A34U-08	15280322	241658545	1540828	5	12970											
ATP2B2	491	broad.mit.edu	37	chr3	10443891	10443891	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgatgcggctctgcaggcccCggaactgtttctctttgctc	4	12	11	14	3	2	0	0	0	2	0	4	2	2	1	2	3	4	4	2	3	1	2			TCGA-J4-A83N-01A-11D-A34U-08	TCGA-J4-A83N-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc3cdabd-8915-4d8e-99f6-84a7fa9bd27a	67b19aa7-53d6-481f-9a70-6667a6dfd141	g.chr3:10443891C>T	ENST00000352432.4	-	3	608	c.539G>A	c.(538-540)cGg>cAg	p.R180Q	ATP2B2_ENST00000383800.4_Missense_Mutation_p.R180Q|ATP2B2_ENST00000397077.1_Missense_Mutation_p.R180Q|ATP2B2_ENST00000360273.2_Missense_Mutation_p.R180Q|ATP2B2_ENST00000343816.4_Missense_Mutation_p.R180Q			Q01814	AT2B2_HUMAN	ATPase, Ca++ transporting, plasma membrane 2	180					auditory receptor cell stereocilium organization (GO:0060088)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cerebellar granule cell differentiation (GO:0021707)|cerebellar Purkinje cell differentiation (GO:0021702)|cGMP metabolic process (GO:0046068)|cochlea development (GO:0090102)|cytosolic calcium ion homeostasis (GO:0051480)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|ion transmembrane transport (GO:0034220)|lactation (GO:0007595)|locomotion (GO:0040011)|locomotory behavior (GO:0007626)|neuromuscular process controlling balance (GO:0050885)|neuron differentiation (GO:0030182)|organelle organization (GO:0006996)|otolith mineralization (GO:0045299)|positive regulation of calcium ion transport (GO:0051928)|regulation of cell size (GO:0008361)|regulation of synaptic plasticity (GO:0048167)|sensory perception of sound (GO:0007605)|serotonin metabolic process (GO:0042428)|synapse organization (GO:0050808)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cilium (GO:0005929)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calcium-dependent ATPase activity (GO:0030899)|calcium-transporting ATPase activity (GO:0005388)|calmodulin binding (GO:0005516)|metal ion binding (GO:0046872)|PDZ domain binding (GO:0030165)|protein C-terminus binding (GO:0008022)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						CTGCAGGCCCCGGAACTGTTT	0.587																																					Ovarian(125;1619 1709 15675 19819 38835)	ENST00000397077.1																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						c.(538-540)cGg>cAg		ATPase, Ca++ transporting, plasma membrane 2							131	142	138					3																	10443891		2203	4300	6503	SO:0001583	missense	491				ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation	cytosol|integral to membrane|plasma membrane	ATP binding|calcium ion binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding	g.chr3:10443891C>T	X63575	CCDS2601.1, CCDS33701.1	3p25.3	2010-04-20	2001-12-04		ENSG00000157087	ENSG00000157087	3.6.3.8	"ATPases / P-type"	815	protein-coding gene	gene with protein product	"plasma membrane Ca2+ pump 2", "plasma membrane calcium-transporting ATPase 2"	108733				1313367	Standard	NM_001001331		Approved	PMCA2	uc003bvt.3	Q01814	OTTHUMG00000128679	ENST00000352432.4:c.539G>A	3.37:g.10443891C>T	ENSP00000324172:p.Arg180Gln					ATP2B2_ENST00000352432.4_Missense_Mutation_p.R180Q|ATP2B2_ENST00000343816.4_Missense_Mutation_p.R180Q|ATP2B2_ENST00000383800.4_Missense_Mutation_p.R180Q|ATP2B2_ENST00000360273.2_Missense_Mutation_p.R180Q	p.R180Q			Q01814	AT2B2_HUMAN			6	1114	-			180					O00766|Q12994|Q16818	Missense_Mutation	SNP	ENST00000352432.4	37	c.539G>A	CCDS33701.1	.	.	.	.	.	.	.	.	.	.	C	36	5.777887	0.96929	.	.	ENSG00000157087	ENST00000352432;ENST00000383800;ENST00000397077;ENST00000360273;ENST00000343816;ENST00000535386;ENST00000452124;ENST00000342354	D;D;D;D;D;D	0.88818	-2.43;-2.43;-2.43;-2.43;-2.43;-2.43	5.43	5.43	0.79202	ATPase, P-type, ATPase-associated domain (1);ATPase,  P-type, cytoplasmic transduction domain A (1);	0.000000	0.85682	D	0.000000	D	0.92756	0.7697	L	0.45470	1.425	0.80722	D	1	D;D;D	0.76494	0.999;0.965;0.978	D;P;P	0.80764	0.994;0.74;0.791	D	0.92695	0.6170	10	0.52906	T	0.07	-27.9247	19.2437	0.93893	0.0:1.0:0.0:0.0	.	180;192;180	Q01814-7;Q4LE63;Q01814	.;.;AT2B2_HUMAN	Q	180;180;180;180;180;146;67;180	ENSP00000324172:R180Q;ENSP00000373311:R180Q;ENSP00000380267:R180Q;ENSP00000353414:R180Q;ENSP00000344677:R180Q;ENSP00000414854:R67Q	ENSP00000342954:R180Q	R	-	2	0	ATP2B2	10418891	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.527000	0.85204	0.563000	0.77884	CGG		0.587	ATP2B2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000250576.2	NM_001683		5	139	0	0	0	1	0	5	139					T	10443891	C	T	10443891	3	4	281	1	0	0	0	0	1	0	0	0	1140	652	23	2	3272	2	ATP2B2	3	10443891	Missense_Mutation	SNP	C	TCGA-J4-A83N-01A-11D-A34U-08		10443891	187578539	6	12971											
RBM46	166863	broad.mit.edu	37	chr4	155719382	155719382	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtggttttgcatttgtggaaTatgaatctcacagagctgct	9	15	11	6	0	1	2	1	1	1	1	2	3	1	3	0	2	3	4	0	2	3	4			TCGA-J4-A83N-01A-11D-A34U-08	TCGA-J4-A83N-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc3cdabd-8915-4d8e-99f6-84a7fa9bd27a	67b19aa7-53d6-481f-9a70-6667a6dfd141	g.chr4:155719382T>G	ENST00000281722.3	+	3	806	c.571T>G	c.(571-573)Tat>Gat	p.Y191D	RBM46_ENST00000510397.1_Missense_Mutation_p.Y191D|RBM46_ENST00000514866.1_Missense_Mutation_p.Y191D	NM_144979.3	NP_659416.1	Q8TBY0	RBM46_HUMAN	RNA binding motif protein 46	191	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.						nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(7)|skin(3)|urinary_tract(2)	26	all_hematologic(180;0.24)	Renal(120;0.0854)				ATTTGTGGAATATGAATCTCA	0.343																																						ENST00000510397.1																			0				central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(7)|skin(3)|urinary_tract(2)	26						c.(571-573)Tat>Gat		RNA binding motif protein 46							58	55	56					4																	155719382		2203	4294	6497	SO:0001583	missense	166863						nucleotide binding|RNA binding	g.chr4:155719382T>G	BC028588	CCDS3790.1, CCDS64085.1, CCDS64086.1	4q32.1	2013-02-12				ENSG00000151962		"RNA binding motif (RRM) containing"	28401	protein-coding gene	gene with protein product	"cancer/testis antigen 68"					12477932	Standard	NM_144979		Approved	MGC27016, CT68	uc003ioo.4	Q8TBY0		ENST00000281722.3:c.571T>G	4.37:g.155719382T>G	ENSP00000281722:p.Tyr191Asp					RBM46_ENST00000281722.3_Missense_Mutation_p.Y191D|RBM46_ENST00000514866.1_Missense_Mutation_p.Y191D	p.Y191D	NM_001277173.1	NP_001264102.1	Q8TBY0	RBM46_HUMAN			3	750	+	all_hematologic(180;0.24)	Renal(120;0.0854)	191			RRM 2.		B3KWU8|B4DZ27	Missense_Mutation	SNP	ENST00000281722.3	37	c.571T>G	CCDS3790.1	.	.	.	.	.	.	.	.	.	.	T	18.74	3.687700	0.68157	.	.	ENSG00000151962	ENST00000514866;ENST00000281722;ENST00000510397	T;T;T	0.21191	2.02;2.02;2.02	5.79	5.79	0.91817	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	T	0.63283	0.2498	H	0.97390	3.995	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.83275	0.996;0.995;0.992	T	0.77816	-0.2447	10	0.87932	D	0	-14.6393	16.1311	0.81442	0.0:0.0:0.0:1.0	.	191;191;191	B4DZ27;B3KWU8;Q8TBY0	.;.;RBM46_HUMAN	D	191	ENSP00000424500:Y191D;ENSP00000281722:Y191D;ENSP00000422813:Y191D	ENSP00000281722:Y191D	Y	+	1	0	RBM46	155938832	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.873000	0.87193	2.208000	0.71279	0.460000	0.39030	TAT		0.343	RBM46-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365259.1	NM_144979		15	34	0	0	0	1	0	15	34					G	155719382	T	G	155719382	3	3	281	1	0	0	0	0	1	0	0	0	13140	1406	49	5	577	5	RBM46	4	155719382	Missense_Mutation	SNP	T	TCGA-J4-A83N-01A-11D-A34U-08		155719382	35434894	7	12972											
CTNNA1	1495	broad.mit.edu	37	chr5	138163328	138163328	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcgtcctgcacgcgtgatgAccgtcgtgagcgaattgtgg	6	10	14	11	6	0	3	0	3	0	0	3	4	1	3	2	1	2	1	2	1	1	1			TCGA-J4-A83N-01A-11D-A34U-08	TCGA-J4-A83N-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc3cdabd-8915-4d8e-99f6-84a7fa9bd27a	67b19aa7-53d6-481f-9a70-6667a6dfd141	g.chr5:138163328A>G	ENST00000302763.7	+	7	1073	c.983A>G	c.(982-984)gAc>gGc	p.D328G	CTNNA1_ENST00000355078.5_Missense_Mutation_p.D225G|CTNNA1_ENST00000518825.1_Missense_Mutation_p.D328G	NM_001903.2	NP_001894.2	P35221	CTNA1_HUMAN	catenin (cadherin-associated protein), alpha 1, 102kDa	328	Interaction with alpha-actinin.				adherens junction organization (GO:0034332)|aging (GO:0007568)|apical junction assembly (GO:0043297)|axon regeneration (GO:0031103)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cellular protein localization (GO:0034613)|cellular response to indole-3-methanol (GO:0071681)|epithelial cell-cell adhesion (GO:0090136)|establishment or maintenance of cell polarity (GO:0007163)|gap junction assembly (GO:0016264)|male gonad development (GO:0008584)|muscle cell differentiation (GO:0042692)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell motility (GO:2000146)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of integrin-mediated signaling pathway (GO:2001045)|negative regulation of neuroblast proliferation (GO:0007406)|odontogenesis of dentin-containing tooth (GO:0042475)|ovarian follicle development (GO:0001541)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of smoothened signaling pathway (GO:0045880)|protein heterooligomerization (GO:0051291)|response to estrogen (GO:0043627)	acrosomal vesicle (GO:0001669)|actin cytoskeleton (GO:0015629)|catenin complex (GO:0016342)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|intercalated disc (GO:0014704)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|zonula adherens (GO:0005915)	beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|gamma-catenin binding (GO:0045295)|poly(A) RNA binding (GO:0044822)|structural molecule activity (GO:0005198)|vinculin binding (GO:0017166)			NS(1)|breast(7)|cervix(2)|endometrium(4)|kidney(6)|large_intestine(16)|lung(9)|oesophagus(2)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	52			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			ACGCGTGATGACCGTCGTGAG	0.567																																						ENST00000302763.7																			0				NS(1)|breast(7)|cervix(2)|endometrium(4)|kidney(6)|large_intestine(16)|lung(9)|oesophagus(2)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	52						c.(982-984)gAc>gGc		catenin (cadherin-associated protein), alpha 1, 102kDa							121	104	110					5																	138163328		2203	4300	6503	SO:0001583	missense	1495				adherens junction organization|apical junction assembly|cell adhesion|cellular response to indole-3-methanol|muscle cell differentiation|positive regulation of muscle cell differentiation	actin cytoskeleton|catenin complex|cytosol	beta-catenin binding|cadherin binding|gamma-catenin binding|structural molecule activity|vinculin binding	g.chr5:138163328A>G	D13866	CCDS34243.1, CCDS75315.1	5q31.2	2008-02-05	2002-08-29			ENSG00000044115			2509	protein-coding gene	gene with protein product		116805	"catenin (cadherin-associated protein), alpha 1 (102kD)"			1924379	Standard	XM_005271898		Approved	CAP102	uc003ldh.3	P35221		ENST00000302763.7:c.983A>G	5.37:g.138163328A>G	ENSP00000304669:p.Asp328Gly					CTNNA1_ENST00000518825.1_Missense_Mutation_p.D328G|CTNNA1_ENST00000355078.5_Missense_Mutation_p.D225G	p.D328G	NM_001903.2	NP_001894.2	P35221	CTNA1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)		7	1073	+			328			Interaction with alpha-actinin.		Q12795|Q8N1C0	Missense_Mutation	SNP	ENST00000302763.7	37	c.983A>G	CCDS34243.1	.	.	.	.	.	.	.	.	.	.	A	26.8	4.774466	0.90108	.	.	ENSG00000044115	ENST00000355078;ENST00000302763;ENST00000537034;ENST00000541863;ENST00000518825	T;T;T	0.38722	1.12;1.12;1.12	5.89	5.89	0.94794	.	0.000000	0.85682	D	0.000000	T	0.59418	0.2192	M	0.65498	2.005	0.80722	D	1	P;P;P	0.46621	0.868;0.664;0.881	P;P;P	0.56960	0.467;0.484;0.81	T	0.59658	-0.7413	10	0.51188	T	0.08	-22.5059	15.9724	0.80031	1.0:0.0:0.0:0.0	.	328;205;328	G3XAM7;B4DKT9;P35221	.;.;CTNA1_HUMAN	G	225;328;328;313;328	ENSP00000347190:D225G;ENSP00000304669:D328G;ENSP00000427821:D328G	ENSP00000304669:D328G	D	+	2	0	CTNNA1	138191227	1.000000	0.71417	1.000000	0.80357	0.864000	0.49448	9.287000	0.95975	2.257000	0.74773	0.460000	0.39030	GAC		0.567	CTNNA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373868.1	NM_001903		3	39	0	0	0	1	0	3	39					G	138163328	A	G	138163328	3	3	281	1	0	0	0	0	1	0	0	0	4012	275	10	4	1005	4	CTNNA1	5	138163328	Missense_Mutation	SNP	A	TCGA-J4-A83N-01A-11D-A34U-08		138163328	42751932	8	12973											
PCDHA12	56137	broad.mit.edu	37	chr5	140255780	140255780	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtgaatgacaatggtccggcGtttgataagcccagctataa	12	10	11	8	2	0	3	0	3	0	0	1	3	1	3	2	2	2	2	2	2	5	4			TCGA-J4-A83N-01A-11D-A34U-08	TCGA-J4-A83N-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc3cdabd-8915-4d8e-99f6-84a7fa9bd27a	67b19aa7-53d6-481f-9a70-6667a6dfd141	g.chr5:140255780G>A	ENST00000398631.2	+	1	723	c.723G>A	c.(721-723)gcG>gcA	p.A241A	PCDHA7_ENST00000525929.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA5_ENST00000529859.1_Intron	NM_018903.2|NM_031864.2	NP_061726.1|NP_114070.1	Q9UN75	PCDAC_HUMAN	protocadherin alpha 12	241	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(4)|breast(2)|cervix(1)|endometrium(19)|kidney(8)|large_intestine(8)|liver(2)|lung(25)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATGGTCCGGCGTTTGATAAGC	0.428																																					Pancreas(113;759 1672 13322 24104 50104)	ENST00000398631.2																			0				NS(4)|breast(2)|cervix(1)|endometrium(19)|kidney(8)|large_intestine(8)|liver(2)|lung(25)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	78						c.(721-723)gcG>gcA									101	98	99					5																	140255780		1878	4099	5977	SO:0001819	synonymous_variant	0							g.chr5:140255780G>A	AF152477	CCDS47285.1, CCDS75327.1	5q31	2010-11-26			ENSG00000251664	ENSG00000251664		"Cadherins / Protocadherins : Clustered"	8666	other	complex locus constituent	"KIAA0345-like 2"	606318				10380929	Standard	NM_018903		Approved	PCDH-ALPHA12	uc003lic.2	Q9UN75	OTTHUMG00000163366	ENST00000398631.2:c.723G>A	5.37:g.140255780G>A						PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron	p.A241A	NM_018903.2|NM_031864.1	NP_061726.1|NP_114070.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	723	+								O75278|Q2M1N8	Silent	SNP	ENST00000398631.2	37	c.723G>A	CCDS47285.1																																																																																				0.428	PCDHA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372882.2	NM_018903		5	49	0	0	0	1	0	5	49					A	140255780	G	A	140255780	2	1	281	1	0	0	0	0	0	0	0	1	11522	1132	40	1		1	PCDHA12	5	140255780	Silent	SNP	G	TCGA-J4-A83N-01A-11D-A34U-08	2092452	140255780	40659480	9	12974											
C6orf170	221322	broad.mit.edu	37	chr6	121604993	121604993	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagctgatgtcatctttggaCaacttggtgagtaatagata	12	13	10	6	0	2	3	1	2	1	1	2	4	2	4	0	2	2	2	0	2	4	5			TCGA-J4-A83N-01A-11D-A34U-08	TCGA-J4-A83N-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc3cdabd-8915-4d8e-99f6-84a7fa9bd27a	67b19aa7-53d6-481f-9a70-6667a6dfd141	g.chr6:121604993C>T	ENST00000398212.2	-	13	1485	c.1436G>A	c.(1435-1437)tGt>tAt	p.C479Y	TBC1D32_ENST00000275159.6_Missense_Mutation_p.C479Y	NM_152730.4	NP_689943.4	Q96NH3	BROMI_HUMAN	TBC1 domain family, member 32	479					cilium morphogenesis (GO:0060271)|embryonic digit morphogenesis (GO:0042733)|lens development in camera-type eye (GO:0002088)|protein localization to cilium (GO:0061512)|retinal pigment epithelium development (GO:0003406)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)	cilium (GO:0005929)|cytoplasm (GO:0005737)	Rab GTPase activator activity (GO:0005097)										CATCTTTGGACAACTTGGTGA	0.289																																						ENST00000275159.6																			0											c.(1435-1437)tGt>tAt		TBC1 domain family, member 32							76	73	74					6																	121604993		1804	4074	5878	SO:0001583	missense	221322							g.chr6:121604993C>T	AK055461	CCDS43501.1	6q22.31	2014-02-20	2013-07-10	2013-07-10	ENSG00000146350	ENSG00000146350			21485	protein-coding gene	gene with protein product	"broad-minded homolog"	615867	"chromosome 6 open reading frame 171", "chromosome 6 open reading frame 170"	C6orf171, C6orf170		20159594, 24285566	Standard	NM_152730		Approved	FLJ30899, dJ310J6.1, FLJ34235, bA57L9.1, BROMI	uc003pyo.1	Q96NH3	OTTHUMG00000015474	ENST00000398212.2:c.1436G>A	6.37:g.121604993C>T	ENSP00000381270:p.Cys479Tyr					TBC1D32_ENST00000398212.2_Missense_Mutation_p.C479Y	p.C479Y							13	1435	-								Q5SZD6|Q5SZM6|Q6ZMY4|Q6ZUR7|Q8NB47	Missense_Mutation	SNP	ENST00000398212.2	37	c.1436G>A	CCDS43501.1	.	.	.	.	.	.	.	.	.	.	C	6.458	0.452608	0.12283	.	.	ENSG00000146350	ENST00000275159;ENST00000398212	T;T	0.21361	2.01;2.01	5.58	4.7	0.59300	.	0.176571	0.41001	D	0.000961	T	0.04318	0.0119	L	0.35723	1.085	0.33296	D	0.564221	B	0.09022	0.002	B	0.06405	0.002	T	0.29640	-1.0005	10	0.02654	T	1	-11.862	8.8122	0.34974	0.0:0.7623:0.1529:0.0848	.	479	Q96NH3	BROMI_HUMAN	Y	479	ENSP00000275159:C479Y;ENSP00000381270:C479Y	ENSP00000275159:C479Y	C	-	2	0	C6orf170	121646692	1.000000	0.71417	1.000000	0.80357	0.874000	0.50279	0.889000	0.28282	1.357000	0.45904	0.561000	0.74099	TGT		0.289	TBC1D32-005	PUTATIVE	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380937.2	NM_152730		5	26	0	0	0	1	0	5	26					T	121604993	C	T	121604993	3	4	281	1	0	0	0	0	1	0	0	0	2344	478	17	3	2417	3	C6orf170	6	121604993	Missense_Mutation	SNP	C	TCGA-J4-A83N-01A-11D-A34U-08		121604993	49510074	10	12975											
TMEM181	57583	broad.mit.edu	37	chr6	159046201	159046201	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacctcttgttcttgatagtGcgggcgtgttccgagctacg	5	14	12	10	4	2	1	0	1	2	0	3	2	3	1	2	1	4	3	2	1	3	7			TCGA-J4-A83N-01A-11D-A34U-08	TCGA-J4-A83N-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc3cdabd-8915-4d8e-99f6-84a7fa9bd27a	67b19aa7-53d6-481f-9a70-6667a6dfd141	g.chr6:159046201G>A	ENST00000367090.3	+	12	1442	c.1431G>A	c.(1429-1431)gtG>gtA	p.V477V	AL591025.1_ENST00000397897.1_5'Flank	NM_020823.1	NP_065874.1	Q9P2C4	TM181_HUMAN	transmembrane protein 181	477					pathogenesis (GO:0009405)	integral component of membrane (GO:0016021)	toxic substance binding (GO:0015643)			central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(1)	22		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;8.15e-18)|BRCA - Breast invasive adenocarcinoma(81;1.38e-05)		TCTTGATAGTGCGGGCGTGTT	0.537																																						ENST00000367090.3																			0				central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(1)	22						c.(1429-1431)gtG>gtA		transmembrane protein 181							236	238	237					6																	159046201		2121	4219	6340	SO:0001819	synonymous_variant	57583				pathogenesis	integral to membrane	toxin binding	g.chr6:159046201G>A	AB037844	CCDS43520.1	6q25.3	2012-08-10	2006-10-19	2006-10-19	ENSG00000146433	ENSG00000146433			20958	protein-coding gene	gene with protein product		613209	"G protein-coupled receptor 178", "KIAA1423"	KIAA1423, GPR178		16452613	Standard	NM_020823		Approved		uc003qrm.4	Q9P2C4	OTTHUMG00000015913	ENST00000367090.3:c.1431G>A	6.37:g.159046201G>A							p.V477V	NM_020823.1	NP_065874.1	Q9P2C4	TM181_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;8.15e-18)|BRCA - Breast invasive adenocarcinoma(81;1.38e-05)	12	1442	+		Breast(66;0.000776)|Ovarian(120;0.0303)	477					Q5VTU1	Silent	SNP	ENST00000367090.3	37	c.1431G>A	CCDS43520.1																																																																																				0.537	TMEM181-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042873.1	NM_020823		5	99	0	0	0	1	0	5	99					A	159046201	G	A	159046201	2	1	281	1	0	0	0	0	0	0	0	1	16097	1306	46	3		3	TMEM181	6	159046201	Silent	SNP	G	TCGA-J4-A83N-01A-11D-A34U-08	37441208	159046201	12068866	11	12976											
C6orf118	168090	broad.mit.edu	37	chr6	165715296	165715296	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gccggagttcttccctcctgCgccatccaggagggccccgt	4	8	12	17	3	1	0	0	0	1	0	4	2	4	2	7	3	1	1	7	3	0	2	rs545305011		TCGA-J4-A83N-01A-11D-A34U-08	TCGA-J4-A83N-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc3cdabd-8915-4d8e-99f6-84a7fa9bd27a	67b19aa7-53d6-481f-9a70-6667a6dfd141	g.chr6:165715296C>A	ENST00000230301.8	-	2	535	c.515G>T	c.(514-516)cGc>cTc	p.R172L	C6orf118_ENST00000543069.1_Missense_Mutation_p.R68L	NM_144980.3	NP_659417.2	Q5T5N4	CF118_HUMAN	chromosome 6 open reading frame 118	172										breast(1)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40		Breast(66;6.27e-05)|Ovarian(120;0.0228)|Prostate(117;0.0906)|all_neural(5;0.157)		OV - Ovarian serous cystadenocarcinoma(33;3.23e-18)|BRCA - Breast invasive adenocarcinoma(81;3.11e-06)|GBM - Glioblastoma multiforme(31;0.000313)		TTCCCTCCTGCGCCATCCAGG	0.617																																						ENST00000543069.1																			0				breast(1)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40						c.(202-204)cGc>cTc		chromosome 6 open reading frame 118							36	43	40					6																	165715296		2203	4300	6503	SO:0001583	missense	168090							g.chr6:165715296C>A		CCDS5288.1	6q27	2012-02-06			ENSG00000112539	ENSG00000112539			21233	protein-coding gene	gene with protein product							Standard	NM_144980		Approved	MGC23884, bA85G2.1	uc003qum.4	Q5T5N4	OTTHUMG00000015984	ENST00000230301.8:c.515G>T	6.37:g.165715296C>A	ENSP00000230301:p.Arg172Leu					C6orf118_ENST00000230301.8_Missense_Mutation_p.R172L	p.R68L			Q5T5N4	CF118_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;3.23e-18)|BRCA - Breast invasive adenocarcinoma(81;3.11e-06)|GBM - Glioblastoma multiforme(31;0.000313)	2	784	-		Breast(66;6.27e-05)|Ovarian(120;0.0228)|Prostate(117;0.0906)|all_neural(5;0.157)	172					Q8TC11	Missense_Mutation	SNP	ENST00000230301.8	37	c.203G>T	CCDS5288.1	.	.	.	.	.	.	.	.	.	.	C	11.35	1.612446	0.28712	.	.	ENSG00000112539	ENST00000230301;ENST00000543069	T;T	0.15834	2.39;2.39	4.9	-9.8	0.00490	.	1.078630	0.07128	N	0.845119	T	0.03220	0.0094	L	0.53249	1.67	0.09310	N	1	B	0.22346	0.068	B	0.17979	0.02	T	0.31251	-0.9950	10	0.37606	T	0.19	-2.1062	1.2922	0.02062	0.2599:0.122:0.1758:0.4423	.	172	Q5T5N4	CF118_HUMAN	L	172;68	ENSP00000230301:R172L;ENSP00000439288:R68L	ENSP00000230301:R172L	R	-	2	0	C6orf118	165635286	0.000000	0.05858	0.003000	0.11579	0.001000	0.01503	-0.470000	0.06639	-1.832000	0.01196	-0.768000	0.03414	CGC		0.617	C6orf118-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043026.1	NM_144980		12	33	1	0	7.03913e-09	1	7.76109e-09	12	33					A	165715296	C	A	165715296	3	1	281	1	0	0	0	0	1	0	0	0	2323	768	27	5	926	5	C6orf118	6	165715296	Missense_Mutation	SNP	C	TCGA-J4-A83N-01A-11D-A34U-08	6669095	165715296	5399771	12	12977											
RP1	6101	broad.mit.edu	37	chr8	55534032	55534032	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cgacccgaagacgaggcgtgCggttcttctgagcaggaggg	8	6	17	10	5	2	2	0	1	2	1	2	6	2	3	1	4	2	2	1	4	1	2			TCGA-J4-A83N-01A-11D-A34U-08	TCGA-J4-A83N-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc3cdabd-8915-4d8e-99f6-84a7fa9bd27a	67b19aa7-53d6-481f-9a70-6667a6dfd141	g.chr8:55534032C>T	ENST00000220676.1	+	2	654	c.506C>T	c.(505-507)gCg>gTg	p.A169V		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	169	Doublecortin 2. {ECO:0000255|PROSITE- ProRule:PRU00072}.				axoneme assembly (GO:0035082)|cellular response to light stimulus (GO:0071482)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|photoreceptor cell outer segment organization (GO:0035845)|phototransduction, visible light (GO:0007603)|retinal cone cell development (GO:0046549)|retinal rod cell development (GO:0046548)|visual perception (GO:0007601)	axoneme (GO:0005930)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)	microtubule binding (GO:0008017)			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			ACGAGGCGTGCGGTTCTTCTG	0.647																																					Colon(91;1014 1389 7634 14542 40420)	ENST00000220676.1																			0				NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169						c.(505-507)gCg>gTg		retinitis pigmentosa 1 (autosomal dominant)							96	96	96					8																	55534032		2203	4300	6503	SO:0001583	missense	6101				axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding	g.chr8:55534032C>T	AF146592	CCDS6160.1	8q12.1	2013-01-08				ENSG00000104237			10263	protein-coding gene	gene with protein product		603937				1783394	Standard	NM_006269		Approved	DCDC4A	uc003xsd.1	P56715		ENST00000220676.1:c.506C>T	8.37:g.55534032C>T	ENSP00000220676:p.Ala169Val						p.A169V	NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)		2	654	+		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	169			Doublecortin 2.			Missense_Mutation	SNP	ENST00000220676.1	37	c.506C>T	CCDS6160.1	.	.	.	.	.	.	.	.	.	.	C	4.238	0.043117	0.08196	.	.	ENSG00000104237	ENST00000220676	D	0.86030	-2.06	5.14	-2.98	0.05513	Doublecortin domain (4);	1.059910	0.07389	N	0.888687	T	0.61048	0.2316	N	0.02775	-0.495	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.50841	-0.8780	10	0.10377	T	0.69	6.9507	6.6116	0.22755	0.1102:0.4328:0.0:0.457	.	169	P56715	RP1_HUMAN	V	169	ENSP00000220676:A169V	ENSP00000220676:A169V	A	+	2	0	RP1	55696585	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.216000	0.17585	-0.643000	0.05473	0.650000	0.86243	GCG		0.647	RP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378532.2	NM_006269		23	50	0	0	0	1	0	23	50					T	55534032	C	T	55534032	3	4	281	1	0	0	0	0	1	0	0	0	13532	768	27	1	508	1	RP1	8	55534032	Missense_Mutation	SNP	C	TCGA-J4-A83N-01A-11D-A34U-08		55534032	90829990	13	12978											
CSPP1	79848	broad.mit.edu	37	chr8	68087551	68087551	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	attcagaaacacgagttgatCtgaaatttatgtacctggat	14	13	8	6	1	2	3	1	2	1	1	2	5	2	4	1	1	2	2	1	1	4	5			TCGA-J4-A83N-01A-11D-A34U-08	TCGA-J4-A83N-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc3cdabd-8915-4d8e-99f6-84a7fa9bd27a	67b19aa7-53d6-481f-9a70-6667a6dfd141	g.chr8:68087551C>T	ENST00000262210.5	+	24	3005	c.2974C>T	c.(2974-2976)Ctg>Ttg	p.L992L	CSPP1_ENST00000412460.1_Silent_p.L647L|CSPP1_ENST00000521168.1_3'UTR|ARFGEF1_ENST00000520381.1_3'UTR	NM_024790.6	NP_079066.5	Q1MSJ5	CSPP1_HUMAN	centrosome and spindle pole associated protein 1	1027					positive regulation of cell division (GO:0051781)|positive regulation of cytokinesis (GO:0032467)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|spindle (GO:0005819)|spindle pole (GO:0000922)				NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|prostate(3)|skin(1)|urinary_tract(1)	49	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.00145)|OV - Ovarian serous cystadenocarcinoma(28;0.00589)|all cancers(69;0.0069)|BRCA - Breast invasive adenocarcinoma(89;0.153)			ACGAGTTGATCTGAAATTTAT	0.353																																						ENST00000262210.5																			0				NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|prostate(3)|skin(1)|urinary_tract(1)	49						c.(2974-2976)Ctg>Ttg		centrosome and spindle pole associated protein 1							72	71	71					8																	68087551		1839	4086	5925	SO:0001819	synonymous_variant	79848					centrosome|microtubule|spindle		g.chr8:68087551C>T	AJ583433	CCDS43744.1	8q13.2	2014-02-24			ENSG00000104218	ENSG00000104218			26193	protein-coding gene	gene with protein product		611654				15580290, 24360807	Standard	NM_024790		Approved	FLJ22490, CSPP, JBTS21	uc003xxj.3	Q1MSJ5	OTTHUMG00000164564	ENST00000262210.5:c.2974C>T	8.37:g.68087551C>T						CSPP1_ENST00000412460.1_Silent_p.L647L|ARFGEF1_ENST00000520381.1_3'UTR|CSPP1_ENST00000521168.1_3'UTR	p.L992L	NM_024790.6	NP_079066.5	Q1MSJ5	CSPP1_HUMAN	Epithelial(68;0.00145)|OV - Ovarian serous cystadenocarcinoma(28;0.00589)|all cancers(69;0.0069)|BRCA - Breast invasive adenocarcinoma(89;0.153)		24	3005	+	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	1027					A6ND63|Q70F00|Q8TBC1	Silent	SNP	ENST00000262210.5	37	c.2974C>T	CCDS43744.1																																																																																				0.353	CSPP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379254.1	NM_024790		12	54	0	0	0	1	0	12	54					T	68087551	C	T	68087551	2	4	281	1	0	0	0	0	0	0	0	1	3962	912	32	3		3	CSPP1	8	68087551	Silent	SNP	C	TCGA-J4-A83N-01A-11D-A34U-08	12553519	68087551	78276471	14	12979											
TEK	7010	broad.mit.edu	37	chr9	27202983	27202983	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tgatgtgaagataaagaatgCcaccatcactcagtatcagc	15	9	8	9	0	3	4	3	2	0	2	3	4	3	4	2	0	2	1	2	0	5	2			TCGA-J4-A83N-01A-11D-A34U-08	TCGA-J4-A83N-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc3cdabd-8915-4d8e-99f6-84a7fa9bd27a	67b19aa7-53d6-481f-9a70-6667a6dfd141	g.chr9:27202983C>T	ENST00000380036.4	+	13	2517	c.2075C>T	c.(2074-2076)gCc>gTc	p.A692V	TEK_ENST00000406359.4_Missense_Mutation_p.A649V|TEK_ENST00000519097.1_Missense_Mutation_p.A545V	NM_000459.3	NP_000450	Q02763	TIE2_HUMAN	TEK tyrosine kinase, endothelial	692	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cell-cell signaling (GO:0007267)|cell-matrix adhesion (GO:0007160)|definitive hemopoiesis (GO:0060216)|endochondral ossification (GO:0001958)|endothelial cell proliferation (GO:0001935)|glomerulus vasculature development (GO:0072012)|heart development (GO:0007507)|heart trabecula formation (GO:0060347)|intracellular signal transduction (GO:0035556)|leukocyte migration (GO:0050900)|negative regulation of angiogenesis (GO:0016525)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of inflammatory response (GO:0050728)|organ regeneration (GO:0031100)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|protein autophosphorylation (GO:0046777)|protein oligomerization (GO:0051259)|regulation of endothelial cell apoptotic process (GO:2000351)|regulation of establishment or maintenance of cell polarity (GO:0032878)|regulation of vascular permeability (GO:0043114)|response to cAMP (GO:0051591)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|response to peptide hormone (GO:0043434)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|sprouting angiogenesis (GO:0002040)|substrate adhesion-dependent cell spreading (GO:0034446)|Tie signaling pathway (GO:0048014)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)|receptor activity (GO:0004872)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(3)|central_nervous_system(3)|kidney(1)|lung(2)|ovary(3)|skin(3)	15		all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255)		Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027)	Ponatinib(DB08901)|Regorafenib(DB08896)|Vandetanib(DB05294)	ATAAAGAATGCCACCATCACT	0.433																																						ENST00000380036.4																			0				breast(3)|central_nervous_system(3)|kidney(1)|lung(2)|ovary(3)|skin(3)	15						c.(2074-2076)gCc>gTc		TEK tyrosine kinase, endothelial							163	138	147					9																	27202983		2203	4300	6503	SO:0001583	missense	7010				angiogenesis|blood coagulation|cell-cell signaling|leukocyte migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase B signaling cascade|protein oligomerization|transmembrane receptor protein tyrosine kinase signaling pathway	apical plasma membrane|basolateral plasma membrane|cell surface|integral to plasma membrane|membrane raft|microvillus	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity	g.chr9:27202983C>T	L06139	CCDS6519.1, CCDS75825.1	9p21	2013-02-11	2008-07-31		ENSG00000120156	ENSG00000120156		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	11724	protein-coding gene	gene with protein product		600221	"venous malformations, multiple cutaneous and mucosal"	VMCM		1312667, 7833915	Standard	XM_005251561		Approved	TIE2, TIE-2, VMCM1, CD202b	uc003zqi.4	Q02763	OTTHUMG00000019712	ENST00000380036.4:c.2075C>T	9.37:g.27202983C>T	ENSP00000369375:p.Ala692Val					TEK_ENST00000406359.4_Missense_Mutation_p.A649V|TEK_ENST00000519097.1_Missense_Mutation_p.A545V	p.A692V	NM_000459.3	NP_000450.2	Q02763	TIE2_HUMAN		Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027)	13	2517	+		all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255)	692			Fibronectin type-III 3.		A8K6W0|B4DH20|B4DHD3|D3DRK5|E7EWI2|Q5TCU2|Q8IV34	Missense_Mutation	SNP	ENST00000380036.4	37	c.2075C>T	CCDS6519.1	.	.	.	.	.	.	.	.	.	.	C	14.45	2.539092	0.45176	.	.	ENSG00000120156	ENST00000519097;ENST00000380036;ENST00000406359	T;T;T	0.56776	0.44;0.44;0.44	5.48	3.65	0.41850	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.270197	0.26289	N	0.025227	T	0.34745	0.0908	N	0.19112	0.55	0.26513	N	0.974562	B;B;B;B	0.12630	0.0;0.006;0.0;0.0	B;B;B;B	0.15870	0.005;0.014;0.003;0.003	T	0.18304	-1.0341	10	0.33141	T	0.24	.	9.4198	0.38544	0.0:0.7837:0.0:0.2163	.	545;725;649;692	E7EWI2;Q59HG2;B4DHD3;Q02763	.;.;.;TIE2_HUMAN	V	545;692;649	ENSP00000430686:A545V;ENSP00000369375:A692V;ENSP00000383977:A649V	ENSP00000369375:A692V	A	+	2	0	TEK	27192983	0.963000	0.33076	1.000000	0.80357	0.999000	0.98932	0.627000	0.24506	0.801000	0.34066	0.637000	0.83480	GCC		0.433	TEK-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051965.3			4	60	0	0	0	1	0	4	60					T	27202983	C	T	27202983	3	4	281	1	0	0	0	0	1	0	0	0	15748	739	26	3	2125	3	TEK	9	27202983	Missense_Mutation	SNP	C	TCGA-J4-A83N-01A-11D-A34U-08		27202983	114010448	15	12980											
RBP3	5949	broad.mit.edu	37	chr10	48388461	48388461	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agacagaatacaggtgctggCggggctctgcctcaaagaag	12	6	14	9	1	2	3	1	0	1	3	2	3	2	3	1	4	3	2	1	4	4	1			TCGA-J4-A83N-01A-11D-A34U-08	TCGA-J4-A83N-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc3cdabd-8915-4d8e-99f6-84a7fa9bd27a	67b19aa7-53d6-481f-9a70-6667a6dfd141	g.chr10:48388461C>T	ENST00000224600.4	-	1	2530	c.2417G>A	c.(2416-2418)cGc>cAc	p.R806H	AL731561.2_ENST00000581861.1_RNA	NM_002900.2	NP_002891.1	P10745	RET3_HUMAN	retinol binding protein 3, interstitial	806	4 X approximate tandem repeats.				lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|transport (GO:0006810)|visual perception (GO:0007601)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|interphotoreceptor matrix (GO:0033165)|vesicle (GO:0031982)	retinal binding (GO:0016918)|retinoid binding (GO:0005501)|retinol binding (GO:0019841)|serine-type peptidase activity (GO:0008236)			central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59					Vitamin A(DB00162)	CAGGTGCTGGCGGGGCTCTGC	0.627																																						ENST00000224600.4																			0				central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59						c.(2416-2418)cGc>cAc		retinol binding protein 3, interstitial	Vitamin A(DB00162)						18	18	18					10																	48388461		2196	4286	6482	SO:0001583	missense	5949				lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity	g.chr10:48388461C>T	M22453	CCDS73119.1	10q11.2	2014-05-06	2001-11-28		ENSG00000107618	ENSG00000265203			9921	protein-coding gene	gene with protein product		180290	"retinol-binding protein 3, interstitial"				Standard	NM_002900		Approved	D10S64, D10S65, D10S66, RP66	uc001jez.3	P10745	OTTHUMG00000188321	ENST00000224600.4:c.2417G>A	10.37:g.48388461C>T	ENSP00000224600:p.Arg806His						p.R806H	NM_002900.2	NP_002891.1	P10745	RET3_HUMAN			1	2530	-			806			4 X approximate tandem repeats.		Q0QD34|Q5VSR0|Q8IXN0	Missense_Mutation	SNP	ENST00000224600.4	37	c.2417G>A	CCDS7218.1	.	.	.	.	.	.	.	.	.	.	C	6.703	0.498387	0.12762	.	.	ENSG00000107618	ENST00000224600	T	0.63417	-0.04	5.21	-0.665	0.11403	Interphotoreceptor retinol-binding (2);	0.419439	0.22045	N	0.065395	T	0.48750	0.1517	L	0.54323	1.7	0.21915	N	0.999477	B	0.11235	0.004	B	0.10450	0.005	T	0.41858	-0.9485	10	0.56958	D	0.05	-9.2812	3.777	0.08665	0.3943:0.2974:0.2353:0.073	.	806	P10745	RET3_HUMAN	H	806	ENSP00000224600:R806H	ENSP00000224600:R806H	R	-	2	0	RBP3	48008467	0.000000	0.05858	0.982000	0.44146	0.146000	0.21551	-0.204000	0.09425	-0.090000	0.12462	-0.397000	0.06425	CGC		0.627	RBP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047888.1	NM_002900		3	10	0	0	0	1	0	3	10					T	48388461	C	T	48388461	3	4	281	1	0	0	0	0	1	0	0	0	13157	768	27	1	1342	1	RBP3	10	48388461	Missense_Mutation	SNP	C	TCGA-J4-A83N-01A-11D-A34U-08		48388461	87146286	16	12981											
SEC31B	25956	broad.mit.edu	37	chr10	102257878	102257878	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgggccaggataatggcatCagcaaagcgctcctccttca	10	8	10	13	1	2	0	2	0	0	0	4	1	4	1	3	3	2	3	3	3	2	2	rs543510700	byFrequency	TCGA-J4-A83N-01A-11D-A34U-08	TCGA-J4-A83N-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc3cdabd-8915-4d8e-99f6-84a7fa9bd27a	67b19aa7-53d6-481f-9a70-6667a6dfd141	g.chr10:102257878C>A	ENST00000370345.3	-	15	1868	c.1771G>T	c.(1771-1773)Gat>Tat	p.D591Y	SEC31B_ENST00000494350.1_5'UTR	NM_015490.3	NP_056305.1	Q9NQW1	SC31B_HUMAN	SEC31 homolog B (S. cerevisiae)	591					protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|vesicle coat (GO:0030120)				NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(3)|lung(17)|ovary(1)|urinary_tract(1)	36		Colorectal(252;0.117)		Epithelial(162;2.36e-10)|all cancers(201;2.09e-08)		ATAATGGCATCAGCAAAGCGC	0.557																																						ENST00000370345.3																			0				NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(3)|lung(17)|ovary(1)|urinary_tract(1)	36						c.(1771-1773)Gat>Tat		SEC31 homolog B (S. cerevisiae)							130	112	118					10																	102257878		2203	4300	6503	SO:0001583	missense	25956				protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane		g.chr10:102257878C>A	AF274863	CCDS7495.1	10q24.32	2013-01-10	2006-10-05	2006-09-07	ENSG00000075826	ENSG00000075826		"WD repeat domain containing"	23197	protein-coding gene	gene with protein product		610258	"SEC31-like 2 (S. cerevisiae)"	SEC31L2		16495487	Standard	NM_015490		Approved	SEC31B-1, DKFZP434M183	uc001krc.1	Q9NQW1	OTTHUMG00000019342	ENST00000370345.3:c.1771G>T	10.37:g.102257878C>A	ENSP00000359370:p.Asp591Tyr					SEC31B_ENST00000494350.1_5'UTR	p.D591Y	NM_015490.3	NP_056305.1	Q9NQW1	SC31B_HUMAN		Epithelial(162;2.36e-10)|all cancers(201;2.09e-08)	15	1868	-		Colorectal(252;0.117)	591					B7ZM75|Q6MZS3|Q86UF0|Q9Y4Q8	Missense_Mutation	SNP	ENST00000370345.3	37	c.1771G>T	CCDS7495.1	.	.	.	.	.	.	.	.	.	.	C	26.8	4.774273	0.90108	.	.	ENSG00000075826	ENST00000370345	T	0.72051	-0.62	5.54	5.54	0.83059	.	0.090555	0.85682	D	0.000000	D	0.88194	0.6371	M	0.92219	3.285	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.78314	0.991;0.98	D	0.90675	0.4601	10	0.87932	D	0	-5.379	18.45	0.90700	0.0:1.0:0.0:0.0	.	590;591	Q9NQW1-5;Q9NQW1	.;SC31B_HUMAN	Y	591	ENSP00000359370:D591Y	ENSP00000359370:D591Y	D	-	1	0	SEC31B	102247868	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	7.704000	0.84595	2.617000	0.88574	0.491000	0.48974	GAT		0.557	SEC31B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051198.1	NM_015490		13	33	1	0	3.27435e-08	1	3.51993e-08	13	33					A	102257878	C	A	102257878	3	1	281	1	0	0	0	0	1	0	0	0	13999	826	29	5	1816	5	SEC31B	10	102257878	Missense_Mutation	SNP	C	TCGA-J4-A83N-01A-11D-A34U-08	53869417	102257878	33276869	17	12982											
MGMT	4255	broad.mit.edu	37	chr10	131506294	131506294	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgccggctcttcaccatccCgttttccagcaaggtcggta	6	11	10	14	3	2	0	1	0	1	0	5	0	4	0	4	3	2	4	4	3	2	4	rs144397748		TCGA-J4-A83N-01A-11D-A34U-08	TCGA-J4-A83N-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc3cdabd-8915-4d8e-99f6-84a7fa9bd27a	67b19aa7-53d6-481f-9a70-6667a6dfd141	g.chr10:131506294C>A	ENST00000306010.7	+	3	386	c.354C>A	c.(352-354)ccC>ccA	p.P118P	MGMT_ENST00000462672.1_3'UTR	NM_002412.3	NP_002403.2	P16455	MGMT_HUMAN	O-6-methylguanine-DNA methyltransferase	87					cellular response to ionizing radiation (GO:0071479)|cellular response to organic cyclic compound (GO:0071407)|cellular response to oxidative stress (GO:0034599)|DNA dealkylation involved in DNA repair (GO:0006307)|DNA ligation (GO:0006266)|DNA methylation (GO:0006306)|DNA repair (GO:0006281)|mammary gland epithelial cell differentiation (GO:0060644)|negative regulation of cell death (GO:0060548)|positive regulation of DNA repair (GO:0045739)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to folic acid (GO:0051593)|response to toxic substance (GO:0009636)	membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|DNA-methyltransferase activity (GO:0009008)|methylated-DNA-[protein]-cysteine S-methyltransferase activity (GO:0003908)|methyltransferase activity (GO:0008168)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	10		all_cancers(35;9.44e-09)|all_epithelial(44;6.98e-08)|Lung NSC(174;0.0157)|all_lung(145;0.0201)|all_neural(114;0.0732)|Colorectal(57;0.0792)|Breast(234;0.167)		OV - Ovarian serous cystadenocarcinoma(35;0.00291)	L-Cysteine(DB00151)	TTCACCATCCCGTTTTCCAGC	0.527								Direct reversal of damage																														ENST00000306010.7																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	10						c.(352-354)ccC>ccA	Direct reversal of damage	O-6-methylguanine-DNA methyltransferase							114	110	112					10																	131506294		2203	4300	6503	SO:0001819	synonymous_variant	4255							g.chr10:131506294C>A	M29971	CCDS7660.2	10q26	2005-10-06			ENSG00000170430	ENSG00000170430			7059	protein-coding gene	gene with protein product		156569					Standard	NM_002412		Approved		uc001lkh.2	P16455	OTTHUMG00000019261	ENST00000306010.7:c.354C>A	10.37:g.131506294C>A						MGMT_ENST00000462672.1_3'UTR	p.P118P	NM_002412.3	NP_002403.2	B4DEE8	B4DEE8_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;0.00291)	3	386	+		all_cancers(35;9.44e-09)|all_epithelial(44;6.98e-08)|Lung NSC(174;0.0157)|all_lung(145;0.0201)|all_neural(114;0.0732)|Colorectal(57;0.0792)|Breast(234;0.167)	118					Q5VY78	Silent	SNP	ENST00000306010.7	37	c.354C>A	CCDS7660.2																																																																																				0.527	MGMT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051009.3	NM_002412		4	84	1	0	0.150653	1	0.15424	4	84					A	131506294	C	A	131506294	2	1	281	1	0	0	0	0	0	0	0	1	9557	639	23	5		5	MGMT	10	131506294	Silent	SNP	C	TCGA-J4-A83N-01A-11D-A34U-08	29248416	131506294	4028453	18	12983											
CCDC73	493860	broad.mit.edu	37	chr11	32697164	32697164	+	Frame_Shift_Del	DEL	T	T	-																															tttatttaaagctgaaagtcTtttgtttgattgtattgctt																										TCGA-J4-A83N-01A-11D-A34U-08	TCGA-J4-A83N-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc3cdabd-8915-4d8e-99f6-84a7fa9bd27a	67b19aa7-53d6-481f-9a70-6667a6dfd141	g.chr11:32697164delT	ENST00000335185.5	-	9	635	c.592delA	c.(592-594)agafs	p.R198fs	CCDC73_ENST00000534415.1_5'UTR	NM_001008391.2	NP_001008392.2	Q6ZRK6	CCD73_HUMAN	coiled-coil domain containing 73	198										NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	51	Breast(20;0.112)					GCTGAAAGTCTTTTGTTTGAT	0.259																																						ENST00000335185.5																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	51						c.(592-594)gafs		coiled-coil domain containing 73							34	32	33					11																	32697164		1791	4040	5831	SO:0001589	frameshift_variant	493860							g.chr11:32697164delT	AK128159	CCDS41630.1	11p13	2006-02-11			ENSG00000186714	ENSG00000186714			23261	protein-coding gene	gene with protein product		612328					Standard	NM_001008391		Approved	NY-SAR-79	uc001mtv.4	Q6ZRK6	OTTHUMG00000166279	ENST00000335185.5:c.592delA	11.37:g.32697164delT	ENSP00000335325:p.Arg198fs					CCDC73_ENST00000534415.1_5'UTR	p.R198fs	NM_001008391.2	NP_001008392.2	Q6ZRK6	CCD73_HUMAN			9	635	-	Breast(20;0.112)		198					Q6P5Q7|Q6ZMW0|Q86WE7	Frame_Shift_Del	DEL	ENST00000335185.5	37	c.592delA	CCDS41630.1																																																																																				0.259	CCDC73-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388874.2	NM_001008391		24	44						24	44	---	---	---	---	-	32697164	T	-	32697164	7	5	281	1	0	1	0	1	0	0	0	0	2846	1617	56	0	2687	0	CCDC73	11	32697164	Frame_Shift_Del	DEL	T	TCGA-J4-A83N-01A-11D-A34U-08		32697164	102309352	19	12984											
OR5M10	390167	broad.mit.edu	37	chr11	56344294	56344294	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttttcccctaatcatttgttGtatggcaaggattacatctc	9	17	6	9	0	2	0	1	0	1	0	4	1	3	1	2	2	1	3	2	2	4	7			TCGA-J4-A83N-01A-11D-A34U-08	TCGA-J4-A83N-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc3cdabd-8915-4d8e-99f6-84a7fa9bd27a	67b19aa7-53d6-481f-9a70-6667a6dfd141	g.chr11:56344294G>C	ENST00000526812.2	-	1	969	c.904C>G	c.(904-906)Caa>Gaa	p.Q302E		NM_001004741.1	NP_001004741.1	Q6IEU7	OR5MA_HUMAN	olfactory receptor, family 5, subfamily M, member 10	302						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(15)|upper_aerodigestive_tract(2)|urinary_tract(2)	25						ATCATTTGTTGTATGGCAAGG	0.378																																						ENST00000526812.2																			0				central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(15)|upper_aerodigestive_tract(2)|urinary_tract(2)	25						c.(904-906)Caa>Gaa		olfactory receptor, family 5, subfamily M, member 10							175	175	175					11																	56344294		1837	4082	5919	SO:0001583	missense	390167				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56344294G>C	BK004515	CCDS53630.1	11q11	2012-08-09				ENSG00000254834		"GPCR / Class A : Olfactory receptors"	15290	protein-coding gene	gene with protein product							Standard	NM_001004741		Approved		uc001niz.1	Q6IEU7		ENST00000526812.2:c.904C>G	11.37:g.56344294G>C	ENSP00000436004:p.Gln302Glu						p.Q302E	NM_001004741.1	NP_001004741.1	Q6IEU7	OR5MA_HUMAN			1	969	-			302					B9EIL9	Missense_Mutation	SNP	ENST00000526812.2	37	c.904C>G	CCDS53630.1	.	.	.	.	.	.	.	.	.	.	G	12.09	1.832370	0.32421	.	.	ENSG00000254834	ENST00000526812	T	0.37752	1.18	4.2	-4.3	0.03710	.	.	.	.	.	T	0.21468	0.0517	N	0.20328	0.56	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.32161	-0.9917	9	0.72032	D	0.01	.	10.1758	0.42937	0.0878:0.0:0.1544:0.7578	.	302	Q6IEU7	OR5MA_HUMAN	E	302	ENSP00000436004:Q302E	ENSP00000436004:Q302E	Q	-	1	0	OR5M10	56100870	0.000000	0.05858	0.000000	0.03702	0.386000	0.30323	-0.950000	0.03889	-0.524000	0.06400	0.632000	0.83419	CAA		0.378	OR5M10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391609.1	NM_001004741		5	169	0	0	0	1	0	5	169					C	56344294	G	C	56344294	3	2	281	1	0	0	0	0	1	0	0	0	11173	1386	48	5	47	5	OR5M10	11	56344294	Missense_Mutation	SNP	G	TCGA-J4-A83N-01A-11D-A34U-08	23647130	56344294	78662222	20	12985											
TBK1	29110	broad.mit.edu	37	chr12	64890177	64890177	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	taatgaagaacaaatccacaAatttgataagtaagtatcca	20	10	5	6	0	0	3	0	2	0	1	2	3	2	3	2	0	1	2	2	0	8	5	rs375610142		TCGA-J4-A83N-01A-11D-A34U-08	TCGA-J4-A83N-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc3cdabd-8915-4d8e-99f6-84a7fa9bd27a	67b19aa7-53d6-481f-9a70-6667a6dfd141	g.chr12:64890177A>G	ENST00000331710.5	+	16	2090	c.1751A>G	c.(1750-1752)aAa>aGa	p.K584R		NM_013254.3	NP_037386.1	Q9UHD2	TBK1_HUMAN	TANK-binding kinase 1	584					defense response to Gram-positive bacterium (GO:0050830)|defense response to virus (GO:0051607)|dendritic cell proliferation (GO:0044565)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of gene expression (GO:0010629)|negative regulation of type I interferon production (GO:0032480)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|response to virus (GO:0009615)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|type I interferon production (GO:0032606)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome membrane (GO:0010008)	ATP binding (GO:0005524)|nucleic acid binding (GO:0003676)|phosphoprotein binding (GO:0051219)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)	20				GBM - Glioblastoma multiforme(28;0.0386)		CAAATCCACAAATTTGATAAG	0.214																																						ENST00000331710.5																			0				breast(2)|central_nervous_system(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)	20						c.(1750-1752)aAa>aGa		TANK-binding kinase 1		A	ARG/LYS	1,4293		0,1,2146	23	27	26		1751	3.7	1	12		26	1,8481		0,1,4240	no	missense	TBK1	NM_013254.3	26	0,2,6386	GG,GA,AA		0.0118,0.0233,0.0157	possibly-damaging	584/730	64890177	2,12774	2147	4241	6388	SO:0001583	missense	29110				I-kappaB kinase/NF-kappaB cascade|innate immune response|interspecies interaction between organisms|MyD88-independent toll-like receptor signaling pathway|negative regulation of type I interferon production|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of transcription from RNA polymerase II promoter|response to virus|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity	g.chr12:64890177A>G	AF191838	CCDS8968.1	12q14.2	2006-06-10			ENSG00000183735	ENSG00000183735			11584	protein-coding gene	gene with protein product		604834				10581243, 10783893	Standard	NM_013254		Approved	NAK	uc001ssc.2	Q9UHD2	OTTHUMG00000168796	ENST00000331710.5:c.1751A>G	12.37:g.64890177A>G	ENSP00000329967:p.Lys584Arg						p.K584R	NM_013254.3	NP_037386.1	Q9UHD2	TBK1_HUMAN		GBM - Glioblastoma multiforme(28;0.0386)	16	2090	+			584					A8K4S4|Q8IYV3|Q9NUJ5	Missense_Mutation	SNP	ENST00000331710.5	37	c.1751A>G	CCDS8968.1	.	.	.	.	.	.	.	.	.	.	A	21.3	4.130308	0.77549	2.33E-4	1.18E-4	ENSG00000183735	ENST00000331710	T	0.15487	2.42	4.86	3.69	0.42338	.	0.106309	0.64402	D	0.000007	T	0.26919	0.0659	L	0.32530	0.975	0.48901	D	0.999722	D	0.63880	0.993	D	0.70935	0.971	T	0.01013	-1.1481	9	.	.	.	-12.5628	11.2471	0.49004	0.926:0.0:0.074:0.0	.	584	Q9UHD2	TBK1_HUMAN	R	584	ENSP00000329967:K584R	.	K	+	2	0	TBK1	63176444	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.233000	0.72320	0.935000	0.37341	0.459000	0.35465	AAA		0.214	TBK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401130.1	NM_013254		3	69	0	0	0	1	0	3	69					G	64890177	A	G	64890177	3	3	281	1	0	0	0	0	1	0	0	0	15634	14	1	4	1809	4	TBK1	12	64890177	Missense_Mutation	SNP	A	TCGA-J4-A83N-01A-11D-A34U-08		64890177	68961718	21	12986											
MAP3K3	4215	broad.mit.edu	37	chr17	61744336	61744336	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	actctggggtgtccagacagGtgcggatcaaggcttcccag	8	8	14	11	1	2	1	1	0	1	1	4	2	4	2	2	5	1	1	2	5	1	1			TCGA-J4-A83N-01A-11D-A34U-08	TCGA-J4-A83N-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc3cdabd-8915-4d8e-99f6-84a7fa9bd27a	67b19aa7-53d6-481f-9a70-6667a6dfd141	g.chr17:61744336G>T	ENST00000361733.3	+	6	738	c.418G>T	c.(418-420)Gtg>Ttg	p.V140L	MAP3K3_ENST00000579585.1_Missense_Mutation_p.V171L|MAP3K3_ENST00000361357.3_Missense_Mutation_p.V171L|MAP3K3_ENST00000584573.1_Missense_Mutation_p.V171L|MAP3K3_ENST00000577395.1_Missense_Mutation_p.V140L	NM_002401.3	NP_002392.2	Q99759	M3K3_HUMAN	mitogen-activated protein kinase kinase kinase 3	140					activation of MAPKK activity (GO:0000186)|intracellular signal transduction (GO:0035556)|MAPK cascade (GO:0000165)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|protein autophosphorylation (GO:0046777)	cytosol (GO:0005829)	ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)			breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	28						GTCCAGACAGGTGCGGATCAA	0.517																																						ENST00000361357.3																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	28						c.(511-513)Gtg>Ttg		mitogen-activated protein kinase kinase kinase 3							121	112	115					17																	61744336		2203	4300	6503	SO:0001583	missense	4215				MAPKKK cascade|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein autophosphorylation	cytosol	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding	g.chr17:61744336G>T	U78876	CCDS32701.1, CCDS32702.1	17q	2011-06-09				ENSG00000198909		"Mitogen-activated protein kinase cascade / Kinase kinase kinases"	6855	protein-coding gene	gene with protein product	"MAP/ERK kinase kinase 3", "MAPK/ERK kinase kinase 3"	602539		MEKK3		9006902	Standard	NM_002401		Approved	MAPKKK3	uc002jbf.3	Q99759		ENST00000361733.3:c.418G>T	17.37:g.61744336G>T	ENSP00000354485:p.Val140Leu					MAP3K3_ENST00000579585.1_Missense_Mutation_p.V171L|MAP3K3_ENST00000577395.1_Missense_Mutation_p.V140L|MAP3K3_ENST00000361733.3_Missense_Mutation_p.V140L|MAP3K3_ENST00000584573.1_Missense_Mutation_p.V171L	p.V171L	NM_203351.1	NP_976226.1	Q99759	M3K3_HUMAN			7	829	+			140					B2RCW2|D3DU15|Q5BKZ6|Q8N3I9	Missense_Mutation	SNP	ENST00000361733.3	37	c.511G>T	CCDS32702.1	.	.	.	.	.	.	.	.	.	.	G	12.91	2.080967	0.36758	.	.	ENSG00000198909	ENST00000361357;ENST00000361733	T;T	0.66995	-0.24;-0.23	6.17	5.21	0.72293	.	0.064532	0.64402	D	0.000010	T	0.52709	0.1751	N	0.22421	0.69	0.58432	D	0.999993	B;B;B;B	0.09022	0.0;0.001;0.001;0.002	B;B;B;B	0.08055	0.003;0.003;0.001;0.003	T	0.46034	-0.9220	10	0.22109	T	0.4	.	15.4435	0.75208	0.0669:0.0:0.9331:0.0	.	140;108;140;171	Q1PBM3;Q96HN9;Q99759;Q99759-2	.;.;M3K3_HUMAN;.	L	171;140	ENSP00000354927:V171L;ENSP00000354485:V140L	ENSP00000354927:V171L	V	+	1	0	MAP3K3	59098068	1.000000	0.71417	1.000000	0.80357	0.901000	0.52897	7.723000	0.84788	1.626000	0.50381	0.655000	0.94253	GTG		0.517	MAP3K3-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000443867.1	NM_002401		3	39	1	0	1	1	1	3	39					T	61744336	G	T	61744336	3	4	281	1	0	0	0	0	1	0	0	0	9251	1261	44	5	537	5	MAP3K3	17	61744336	Missense_Mutation	SNP	G	TCGA-J4-A83N-01A-11D-A34U-08		61744336	19450874	22	12987											
SLC35E1	79939	broad.mit.edu	37	chr19	16664533	16664533	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtacgagtttgggtagctcTgccggctgtattggaagtgg	6	13	16	6	2	1	0	0	0	1	0	1	2	1	1	1	4	3	6	1	4	4	5			TCGA-J4-A83N-01A-11D-A34U-08	TCGA-J4-A83N-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc3cdabd-8915-4d8e-99f6-84a7fa9bd27a	67b19aa7-53d6-481f-9a70-6667a6dfd141	g.chr19:16664533T>C	ENST00000595753.1	-	6	1207	c.1190A>G	c.(1189-1191)cAg>cGg	p.Q397R	CTD-3222D19.11_ENST00000597357.1_RNA|SLC35E1_ENST00000593812.1_5'Flank|CTD-3222D19.2_ENST00000409035.1_Intron	NM_024881.4	NP_079157.3	Q96K37	S35E1_HUMAN	solute carrier family 35, member E1	397					transport (GO:0006810)	integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(3)|large_intestine(7)|liver(1)|lung(2)|ovary(1)	15						TGGGTAGCTCTGCCGGCTGTA	0.562																																						ENST00000595753.1																			0				central_nervous_system(1)|endometrium(3)|large_intestine(7)|liver(1)|lung(2)|ovary(1)	15						c.(1189-1191)cAg>cGg		solute carrier family 35, member E1							202	182	189					19																	16664533		2203	4300	6503	SO:0001583	missense	79939				transport	integral to membrane		g.chr19:16664533T>C	AK024313	CCDS12346.2	19p13.11	2013-05-22			ENSG00000127526	ENSG00000127526		"Solute carriers"	20803	protein-coding gene	gene with protein product							Standard	NM_024881		Approved	FLJ14251	uc010xph.2	Q96K37	OTTHUMG00000152575	ENST00000595753.1:c.1190A>G	19.37:g.16664533T>C	ENSP00000470652:p.Gln397Arg					CTD-3222D19.2_ENST00000409035.1_Intron	p.Q397R	NM_024881.4	NP_079157.3	Q96K37	S35E1_HUMAN			6	1207	-			397					Q8NBQ2|Q96JV7	Missense_Mutation	SNP	ENST00000595753.1	37	c.1190A>G	CCDS12346.2	.	.	.	.	.	.	.	.	.	.	T	15.08	2.727818	0.48833	.	.	ENSG00000127526	ENST00000409648	.	.	.	4.96	2.79	0.32731	.	0.178227	0.51477	D	0.000087	T	0.35653	0.0939	L	0.27053	0.805	0.80722	D	1	P	0.39480	0.675	B	0.33960	0.173	T	0.12502	-1.0545	9	0.59425	D	0.04	-11.0748	11.001	0.47604	0.0:0.0:0.2986:0.7014	.	397	Q96K37	S35E1_HUMAN	R	397	.	ENSP00000387152:Q397R	Q	-	2	0	SLC35E1	16525533	1.000000	0.71417	0.994000	0.49952	0.787000	0.44495	3.590000	0.53979	0.220000	0.20860	0.459000	0.35465	CAG		0.562	SLC35E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326809.2	NM_024881		5	103	0	0	0	1	0	5	103					C	16664533	T	C	16664533	3	2	281	1	0	0	0	0	1	0	0	0	14584	1580	55	4	46	4	SLC35E1	19	16664533	Missense_Mutation	SNP	T	TCGA-J4-A83N-01A-11D-A34U-08		16664533	42464450	23	12988											
PSG11	5680	broad.mit.edu	37	chr19	43528993	43528993	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tgtttctcgtccactgtatgCcggtccatatataattattt	8	18	6	9	2	1	0	0	0	1	0	4	0	3	0	3	1	1	2	3	1	5	7			TCGA-J4-A83N-01A-11D-A34U-08	TCGA-J4-A83N-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc3cdabd-8915-4d8e-99f6-84a7fa9bd27a	67b19aa7-53d6-481f-9a70-6667a6dfd141	g.chr19:43528993C>T	ENST00000401740.1	-	2	383	c.280G>A	c.(280-282)Gca>Aca	p.A94T	PSG11_ENST00000403486.1_Intron|PSG11_ENST00000320078.7_Missense_Mutation_p.A94T|PSG11_ENST00000306322.7_Intron			Q00887	PSG9_HUMAN	pregnancy specific beta-1-glycoprotein 11	94	Ig-like V-type.				female pregnancy (GO:0007565)	extracellular region (GO:0005576)				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	26		Prostate(69;0.00682)				CCACTGTATGCCGGTCCATAT	0.443																																						ENST00000401740.1																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	26						c.(280-282)Gca>Aca		pregnancy specific beta-1-glycoprotein 11							247	230	236					19																	43528993		2199	4298	6497	SO:0001583	missense	5680				female pregnancy	extracellular region		g.chr19:43528993C>T	U25988	CCDS12614.2, CCDS12615.2	19q13.2	2013-01-29			ENSG00000243130	ENSG00000243130		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	9516	protein-coding gene	gene with protein product	"pregnancy specific beta-1-glycoprotein 13"	176401		PSG13, PSG14		7794280	Standard	NM_001113410		Approved	MGC22484	uc002ovm.1	Q9UQ72	OTTHUMG00000151546	ENST00000401740.1:c.280G>A	19.37:g.43528993C>T	ENSP00000384995:p.Ala94Thr					PSG11_ENST00000403486.1_Intron|PSG11_ENST00000320078.7_Missense_Mutation_p.A94T|PSG11_ENST00000306322.7_Intron	p.A94T			Q9UQ72	PSG11_HUMAN			2	383	-		Prostate(69;0.00682)	94			Ig-like V-type.		B2R869|Q15227|Q15236|Q15237|Q8WW78|Q9UQ73	Missense_Mutation	SNP	ENST00000401740.1	37	c.280G>A	CCDS12614.2	.	.	.	.	.	.	.	.	.	.	c	9.498	1.102465	0.20632	.	.	ENSG00000243130	ENST00000320078;ENST00000401740	T;T	0.66280	-0.2;-0.2	0.929	-1.86	0.07760	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.64023	0.2561	M	0.80746	2.51	0.09310	N	1	B	0.25563	0.129	B	0.39904	0.313	T	0.63812	-0.6552	9	0.62326	D	0.03	.	2.5413	0.04726	0.0:0.4411:0.3119:0.247	.	94	Q9UQ72	PSG11_HUMAN	T	94	ENSP00000319140:A94T;ENSP00000384995:A94T	ENSP00000319140:A94T	A	-	1	0	PSG11	48220833	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	-0.352000	0.07701	-0.979000	0.03529	-1.140000	0.01884	GCA		0.443	PSG11-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323079.1	NM_002785		4	234	0	0	0	1	0	4	234					T	43528993	C	T	43528993	3	4	281	1	0	0	0	0	1	0	0	0	12654	739	26	3	743	3	PSG11	19	43528993	Missense_Mutation	SNP	C	TCGA-J4-A83N-01A-11D-A34U-08	26864460	43528993	15599990	24	12989											
CNOT3	4849	broad.mit.edu	37	chr19	54656631	54656631	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctcccccggaacccctgtccGacgcccccctaccaccacca	7	4	5	25	3	0	0	0	0	0	0	2	2	2	1	11	1	2	0	11	1	2	1			TCGA-J4-A83N-01A-11D-A34U-08	TCGA-J4-A83N-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc3cdabd-8915-4d8e-99f6-84a7fa9bd27a	67b19aa7-53d6-481f-9a70-6667a6dfd141	g.chr19:54656631G>A	ENST00000406403.1	+	15	3535	c.1932G>A	c.(1930-1932)ccG>ccA	p.P644P	CNOT3_ENST00000221232.5_Silent_p.P644P|CNOT3_ENST00000358389.3_Silent_p.P463P|CNOT3_ENST00000496327.1_3'UTR			O75175	CNOT3_HUMAN	CCR4-NOT transcription complex, subunit 3	644	Pro-rich.				gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|regulation of stem cell maintenance (GO:2000036)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|transcription, DNA-templated (GO:0006351)|trophectodermal cell differentiation (GO:0001829)	CCR4-NOT complex (GO:0030014)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|nucleus (GO:0005634)				endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(7)|urinary_tract(3)	28	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					ACCCCTGTCCGACGCCCCCCT	0.577																																						ENST00000406403.1																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(7)|urinary_tract(3)	28						c.(1930-1932)ccG>ccA		CCR4-NOT transcription complex, subunit 3							127	117	121					19																	54656631		2203	4300	6503	SO:0001819	synonymous_variant	4849				nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding	g.chr19:54656631G>A	AF180474	CCDS12880.1	19q13.4	2011-02-14			ENSG00000088038	ENSG00000088038			7879	protein-coding gene	gene with protein product	"NOT3 (negative regulator of transcription 3, yeast) homolog"	604910		NOT3		10637334, 9734811	Standard	NM_014516		Approved	NOT3H, KIAA0691, LENG2	uc002qdj.2	O75175	OTTHUMG00000066468	ENST00000406403.1:c.1932G>A	19.37:g.54656631G>A						CNOT3_ENST00000496327.1_3'UTR|CNOT3_ENST00000221232.5_Silent_p.P644P|CNOT3_ENST00000358389.3_Silent_p.P463P	p.P644P			O75175	CNOT3_HUMAN			15	3535	+	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)		644			Pro-rich.		Q9NZN7|Q9UF76	Silent	SNP	ENST00000406403.1	37	c.1932G>A	CCDS12880.1	.	.	.	.	.	.	.	.	.	.	G	9.583	1.124046	0.20959	.	.	ENSG00000088038	ENST00000457463	.	.	.	3.46	2.39	0.29439	.	.	.	.	.	T	0.52709	0.1751	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.45556	-0.9253	4	.	.	.	-23.0561	5.703	0.17893	0.1094:0.3977:0.4929:0.0	.	.	.	.	N	176	.	.	D	+	1	0	CNOT3	59348443	0.998000	0.40836	1.000000	0.80357	0.988000	0.76386	0.435000	0.21510	1.003000	0.39130	0.561000	0.74099	GAC		0.577	CNOT3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142130.3	NM_014516		7	69	0	0	0	1	0	7	69					A	54656631	G	A	54656631	2	1	281	1	0	0	0	0	0	0	0	1	3620	1045	37	2		2	CNOT3	19	54656631	Silent	SNP	G	TCGA-J4-A83N-01A-11D-A34U-08	11127638	54656631	4472352	25	12990											
GPCPD1	56261	broad.mit.edu	37	chr20	5556578	5556578	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agagacaagctgtacccacaTgtccaggaagggcatcaccc	13	5	10	13	0	1	1	1	0	0	1	2	3	2	2	3	2	2	3	3	2	3	1			TCGA-J4-A83N-01A-11D-A34U-08	TCGA-J4-A83N-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc3cdabd-8915-4d8e-99f6-84a7fa9bd27a	67b19aa7-53d6-481f-9a70-6667a6dfd141	g.chr20:5556578T>C	ENST00000379019.4	-	9	964	c.752A>G	c.(751-753)cAt>cGt	p.H251R	GPCPD1_ENST00000481038.1_5'UTR	NM_019593.3	NP_062539.1	Q9NPB8	GPCP1_HUMAN	glycerophosphocholine phosphodiesterase GDE1 homolog (S. cerevisiae)	251					glycerophospholipid biosynthetic process (GO:0046474)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)	glycerophosphocholine phosphodiesterase activity (GO:0047389)|starch binding (GO:2001070)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(2)|skin(1)	16						TGTACCCACATGTCCAGGAAG	0.398																																						ENST00000379019.4																			0				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(2)|skin(1)	16						c.(751-753)cAt>cGt		glycerophosphocholine phosphodiesterase GDE1 homolog (S. cerevisiae)							89	78	82					20																	5556578		2203	4300	6503	SO:0001583	missense	56261				glycerol metabolic process|lipid metabolic process		carbohydrate binding|glycerophosphodiester phosphodiesterase activity	g.chr20:5556578T>C		CCDS13090.1	20p12.3	2011-01-25			ENSG00000125772	ENSG00000125772			26957	protein-coding gene	gene with protein product		614124				10718198, 20576599	Standard	NM_019593		Approved	KIAA1434, GDE5, GDPD6	uc002wme.4	Q9NPB8	OTTHUMG00000031806	ENST00000379019.4:c.752A>G	20.37:g.5556578T>C	ENSP00000368305:p.His251Arg					GPCPD1_ENST00000481038.1_5'UTR	p.H251R	NM_019593.3	NP_062539.1	Q9NPB8	GPCP1_HUMAN			9	964	-			251					D3DW06|Q9BQL8|Q9NUX0	Missense_Mutation	SNP	ENST00000379019.4	37	c.752A>G	CCDS13090.1	.	.	.	.	.	.	.	.	.	.	T	18.80	3.700209	0.68501	.	.	ENSG00000125772	ENST00000379019	T	0.46063	0.88	5.31	5.31	0.75309	.	0.049397	0.85682	D	0.000000	T	0.34366	0.0895	L	0.34521	1.04	0.58432	D	0.999999	P	0.48764	0.915	B	0.42062	0.374	T	0.07481	-1.0770	10	0.27082	T	0.32	-10.3068	15.5449	0.76090	0.0:0.0:0.0:1.0	.	251	Q9NPB8	GPCP1_HUMAN	R	251	ENSP00000368305:H251R	ENSP00000368305:H251R	H	-	2	0	GPCPD1	5504578	1.000000	0.71417	0.969000	0.41365	0.720000	0.41350	3.899000	0.56288	2.124000	0.65301	0.528000	0.53228	CAT		0.398	GPCPD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077869.1	NM_019593		12	28	0	0	0	1	0	12	28					C	5556578	T	C	5556578	3	2	281	1	0	0	0	0	1	0	0	0	6603	1464	51	4	1314	4	GPCPD1	20	5556578	Missense_Mutation	SNP	T	TCGA-J4-A83N-01A-11D-A34U-08		5556578	57468942	26	12991											
HCK	3055	broad.mit.edu	37	chr20	30681780	30681780	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agattgctgactttggcctgGcccgggtcattgaggacaac	8	10	13	10	1	1	3	1	2	0	1	1	4	1	4	2	4	2	1	2	4	1	3			TCGA-J4-A83N-01A-11D-A34U-08	TCGA-J4-A83N-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc3cdabd-8915-4d8e-99f6-84a7fa9bd27a	67b19aa7-53d6-481f-9a70-6667a6dfd141	g.chr20:30681780G>A	ENST00000520553.1	+	11	1390	c.1144G>A	c.(1144-1146)Gcc>Acc	p.A382T	HCK_ENST00000375862.2_Missense_Mutation_p.A402T|HCK_ENST00000538448.1_Missense_Mutation_p.A382T|HCK_ENST00000375852.2_Missense_Mutation_p.A403T|HCK_ENST00000534862.1_Missense_Mutation_p.A383T|HCK_ENST00000518730.1_Missense_Mutation_p.A381T	NM_001172129.1|NM_001172130.1|NM_001172131.1|NM_002110.3	NP_001165600.1|NP_001165601.1|NP_001165602.1|NP_002101.2	P08631	HCK_HUMAN	HCK proto-oncogene, Src family tyrosine kinase	403	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell adhesion (GO:0007155)|cytokine-mediated signaling pathway (GO:0019221)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|innate immune response-activating signal transduction (GO:0002758)|integrin-mediated signaling pathway (GO:0007229)|interferon-gamma-mediated signaling pathway (GO:0060333)|leukocyte degranulation (GO:0043299)|leukocyte migration involved in immune response (GO:0002522)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|mesoderm development (GO:0007498)|negative regulation of apoptotic process (GO:0043066)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell proliferation (GO:0008284)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of cell shape (GO:0008360)|regulation of defense response to virus by virus (GO:0050690)|regulation of inflammatory response (GO:0050727)|regulation of phagocytosis (GO:0050764)|regulation of podosome assembly (GO:0071801)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|respiratory burst after phagocytosis (GO:0045728)|viral process (GO:0016032)	caveola (GO:0005901)|cell projection (GO:0042995)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|lysosome (GO:0005764)|nucleus (GO:0005634)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			NS(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(4)	36			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)		Bosutinib(DB06616)	CTTTGGCCTGGCCCGGGTCAT	0.567																																						ENST00000534862.1																			0				NS(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(4)	36						c.(1147-1149)Gcc>Acc		hemopoietic cell kinase							177	138	151					20																	30681780		2203	4300	6503	SO:0001583	missense	3055				interspecies interaction between organisms|mesoderm development|regulation of defense response to virus by virus|viral reproduction	caveola|cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding	g.chr20:30681780G>A	AK026432	CCDS33460.1, CCDS54453.1, CCDS54455.1, CCDS54456.1	20q11-q12	2014-06-25	2014-06-25		ENSG00000101336	ENSG00000101336		"SH2 domain containing"	4840	protein-coding gene	gene with protein product		142370	"hemopoietic cell kinase"			3496523	Standard	NM_002110		Approved	JTK9	uc002wxh.3	P08631	OTTHUMG00000032204	ENST00000520553.1:c.1144G>A	20.37:g.30681780G>A	ENSP00000429848:p.Ala382Thr					HCK_ENST00000538448.1_Missense_Mutation_p.A382T|HCK_ENST00000375852.2_Missense_Mutation_p.A403T|HCK_ENST00000520553.1_Missense_Mutation_p.A382T|HCK_ENST00000375862.2_Missense_Mutation_p.A402T|HCK_ENST00000518730.1_Missense_Mutation_p.A381T	p.A383T	NM_001172132.1	NP_001165603.1	P08631	HCK_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)		12	1510	+			403			Protein kinase.		A8K1I1|B4DQB6|E1P5M2|Q29RX1|Q2VPE2|Q504R5|Q5T7K1|Q5T7K2|Q96CC0|Q9H5Y5|Q9NUA4|Q9UMJ5	Missense_Mutation	SNP	ENST00000520553.1	37	c.1147G>A	CCDS54455.1	.	.	.	.	.	.	.	.	.	.	G	36	5.693523	0.96793	.	.	ENSG00000101336	ENST00000534862;ENST00000538448;ENST00000375862;ENST00000520553;ENST00000518730;ENST00000375852	T;T;T;T;T;T	0.15834	2.39;2.39;2.39;2.39;2.39;2.39	4.87	4.87	0.63330	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	D	0.000001	T	0.34048	0.0884	L	0.47016	1.485	0.80722	D	1	D;D	0.63880	0.991;0.993	P;P	0.62813	0.85;0.907	T	0.04427	-1.0952	10	0.87932	D	0	.	17.1851	0.86865	0.0:0.0:1.0:0.0	.	381;403	P08631-3;P08631	.;HCK_HUMAN	T	383;382;402;382;381;403	ENSP00000444986:A383T;ENSP00000441169:A382T;ENSP00000365022:A402T;ENSP00000429848:A382T;ENSP00000427757:A381T;ENSP00000365012:A403T	ENSP00000365012:A403T	A	+	1	0	HCK	30145441	1.000000	0.71417	0.998000	0.56505	0.871000	0.50021	9.555000	0.98123	2.530000	0.85305	0.542000	0.68232	GCC		0.567	HCK-006	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000375751.1			25	36	0	0	0	1	0	25	36					A	30681780	G	A	30681780	3	1	281	1	0	0	0	0	1	0	0	0	6994	1203	42	3	1255	3	HCK	20	30681780	Missense_Mutation	SNP	G	TCGA-J4-A83N-01A-11D-A34U-08	25125202	30681780	32343740	27	12992											
C1orf216	127703	broad.mit.edu	37	chr1	36181895	36181895	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccccaggaattggcccccctCagctagccctggctggatgg	6	7	12	16	0	1	0	1	0	0	0	1	2	1	2	6	5	2	2	6	5	2	2			TCGA-J4-AATV-01A-11D-A41K-08	TCGA-J4-AATV-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fbdfb5d-faed-48d4-a2e3-daea6ac7e9b1	93f8b7dd-abc6-4e05-b850-16523635aa29	g.chr1:36181895C>A	ENST00000270815.4	-	2	798	c.28G>T	c.(28-30)Gag>Tag	p.E10*	C1orf216_ENST00000503824.1_5'UTR	NM_152374.1	NP_689587.1	Q8TAB5	CA216_HUMAN	chromosome 1 open reading frame 216	10										kidney(2)|lung(3)|skin(2)|urinary_tract(1)	8		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.196)				TGGCCCCCCTCAGCTAGCCCT	0.572											OREG0013357	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000270815.4																			0				kidney(2)|lung(3)|skin(2)|urinary_tract(1)	8						c.(28-30)Gag>Tag		chromosome 1 open reading frame 216							34	33	33					1																	36181895		2203	4300	6503	SO:0001587	stop_gained	127703							g.chr1:36181895C>A	AK096303	CCDS395.1	1p34.3	2007-08-10			ENSG00000142686	ENSG00000142686			26800	protein-coding gene	gene with protein product						12477932	Standard	NM_152374		Approved	FLJ38984	uc001bzh.1	Q8TAB5	OTTHUMG00000004167	ENST00000270815.4:c.28G>T	1.37:g.36181895C>A	ENSP00000425166:p.Glu10*		OREG0013357	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	861	C1orf216_ENST00000503824.1_5'UTR	p.E10*	NM_152374.1	NP_689587.1	Q8TAB5	CA216_HUMAN			2	798	-		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.196)	10					D3DPS1|Q8N8N6	Nonsense_Mutation	SNP	ENST00000270815.4	37	c.28G>T	CCDS395.1	.	.	.	.	.	.	.	.	.	.	C	41	8.672431	0.98910	.	.	ENSG00000142686	ENST00000270815;ENST00000422623	.	.	.	5.1	4.15	0.48705	.	0.324144	0.25645	N	0.029248	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.42905	T	0.14	-2.1983	11.7217	0.51685	0.0:0.8232:0.1768:0.0	.	.	.	.	X	10	.	ENSP00000425166:E10X	E	-	1	0	C1orf216	35954482	0.949000	0.32298	1.000000	0.80357	0.940000	0.58332	1.175000	0.31944	2.357000	0.79964	0.555000	0.69702	GAG		0.572	C1orf216-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012013.3	NM_152374		3	18	1	0	1	1	1	3	18					A	36181895	C	A	36181895	4	1	282	1	0	0	0	0	0	1	0	0	2031	835	29	5	665	5	C1orf216	1	36181895	Nonsense_Mutation	SNP	C	TCGA-J4-AATV-01A-11D-A41K-08		36181895	213068726	1	12993											
TBC1D2	55357	broad.mit.edu	37	chr9	101014206	101014206	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agcatcgcttgcttggtggcGgcctgagaagcacaaggatt	9	9	14	9	2	0	1	0	1	0	1	1	3	0	2	1	4	3	4	1	4	2	3	rs143910740		TCGA-J4-AATV-01A-11D-A41K-08	TCGA-J4-AATV-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fbdfb5d-faed-48d4-a2e3-daea6ac7e9b1	93f8b7dd-abc6-4e05-b850-16523635aa29	g.chr9:101014206G>A	ENST00000375064.1	-	2	410	c.372C>T	c.(370-372)gcC>gcT	p.A124A	TBC1D2_ENST00000375066.5_Silent_p.A124A|TBC1D2_ENST00000342112.5_Intron	NM_001267571.1	NP_001254500.1	Q9BYX2	TBD2A_HUMAN	TBC1 domain family, member 2	124	Interaction with CADH1.|PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				positive regulation of Rab GTPase activity (GO:0032851)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)	cadherin binding (GO:0045296)|Rab GTPase activator activity (GO:0005097)			breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;2.55e-37)		GCTTGGTGGCGGCCTGAGAAG	0.607													G|||	1	0.000199681	0	0	5008	,	,		19316	0.001		0	False		,,,				2504	0					ENST00000375066.5																			0				breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24						c.(370-372)gcC>gcT		TBC1 domain family, member 2		G		0,4406		0,0,2203	62	59	60		372	-8.5	0.5	9	dbSNP_134	60	1,8599	1.2+/-3.3	0,1,4299	yes	coding-synonymous	TBC1D2	NM_018421.3		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		124/918	101014206	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	55357					cell junction|cytoplasmic membrane-bounded vesicle|nucleus	Rab GTPase activator activity	g.chr9:101014206G>A	AY026527	CCDS35080.1, CCDS59137.1, CCDS75865.1	9q22.32	2011-11-30			ENSG00000095383	ENSG00000095383			18026	protein-coding gene	gene with protein product	"prostate antigen recognized and identified by SEREX"	609871					Standard	NM_018421		Approved	PARIS1, TBC1D2A, Armus	uc011lvb.2	Q9BYX2	OTTHUMG00000020343	ENST00000375064.1:c.372C>T	9.37:g.101014206G>A						TBC1D2_ENST00000375064.1_Silent_p.A124A|TBC1D2_ENST00000342112.5_Intron	p.A124A	NM_018421.3	NP_060891.3	Q9BYX2	TBD2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(323;2.55e-37)	2	463	-		Myeloproliferative disorder(762;0.0255)	124			Interaction with CADH1.|PH.		B3KWD1|B4DQ05|B9A6J7|Q59EU0|Q5TBQ5|Q6IPC7|Q7L1K8|Q8WYT1|Q9H6A2|Q9NSH4	Silent	SNP	ENST00000375064.1	37	c.372C>T																																																																																					0.607	TBC1D2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000053366.1	NM_018421		3	57	0	0	0	1	0	3	57					A	101014206	G	A	101014206	2	1	282	1	0	0	0	0	0	0	0	1	15605	1103	39	2		2	TBC1D2	9	101014206	Silent	SNP	G	TCGA-J4-AATV-01A-11D-A41K-08		101014206	40199225	2	12994											
ZNF518A	9849	broad.mit.edu	37	chr10	97918507	97918507	+	RNA	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	acactccaaataaaggcttgCcacttcattgtgaccagtca	13	10	6	12	0	2	1	2	1	0	0	3	1	3	1	3	1	1	1	3	1	3	4			TCGA-J4-AATV-01A-11D-A41K-08	TCGA-J4-AATV-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fbdfb5d-faed-48d4-a2e3-daea6ac7e9b1	93f8b7dd-abc6-4e05-b850-16523635aa29	g.chr10:97918507C>T	ENST00000534948.1	+	0	3285							Q6AHZ1	Z518A_HUMAN	zinc finger protein 518A						transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|urinary_tract(2)	24		Colorectal(252;0.0815)		Epithelial(162;4.23e-08)|all cancers(201;1.85e-06)		TAAAGGCTTGCCACTTCATTG	0.383																																						ENST00000534948.1																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|urinary_tract(2)	24								zinc finger protein 518A							51	50	50					10																	97918507		1860	4087	5947			9849				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr10:97918507C>T	AB002333	CCDS73170.1	10q23.33	2012-08-08	2007-12-07	2007-12-07	ENSG00000177853	ENSG00000177853		"Zinc fingers, C2H2-type"	29009	protein-coding gene	gene with protein product			"zinc finger protein 518"	ZNF518		9205841	Standard	NM_014803		Approved	KIAA0335	uc001klp.3	Q6AHZ1	OTTHUMG00000018828		10.37:g.97918507C>T										Q6AHZ1	Z518A_HUMAN		Epithelial(162;4.23e-08)|all cancers(201;1.85e-06)	0	3285	+		Colorectal(252;0.0815)						A0PJI5|O15044|Q32MP4	RNA	SNP	ENST00000534948.1	37																																																																																						0.383	ZNF518A-202	KNOWN	basic	processed_transcript	processed_transcript		NM_014803		3	26	0	0	0	1	0	3	26					T	97918507	C	T	97918507	1	4	282	0	1	0	0	0	0	0	0	0	17959	739	26	3		3	ZNF518A	10	97918507	RNA	SNP	C	TCGA-J4-AATV-01A-11D-A41K-08		97918507	37616240	3	12995											
MYH7	4625	broad.mit.edu	37	chr14	23887535	23887535	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcagctcggccttggcctcCgtctcctcctcgtactgctc	2	12	9	18	3	1	0	0	0	1	0	7	0	3	0	5	2	4	4	5	2	1	2	rs397516200		TCGA-J4-AATV-01A-11D-A41K-08	TCGA-J4-AATV-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fbdfb5d-faed-48d4-a2e3-daea6ac7e9b1	93f8b7dd-abc6-4e05-b850-16523635aa29	g.chr14:23887535C>T	ENST00000355349.3	-	30	4215	c.4053G>A	c.(4051-4053)acG>acA	p.T1351T	MIR208B_ENST00000401172.1_RNA|CTD-2201G16.1_ENST00000557368.1_RNA	NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	1351					adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|myosin complex (GO:0016459)|myosin filament (GO:0032982)|nucleus (GO:0005634)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)	p.T1351T(1)		NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		CCTTGGCCTCCGTCTCCTCCT	0.672																																						ENST00000355349.3																			1	Substitution - coding silent(1)	p.T1351T(1)	lung(1)	NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137						c.(4051-4053)acG>acA		myosin, heavy chain 7, cardiac muscle, beta							64	57	60					14																	23887535		2203	4300	6503	SO:0001819	synonymous_variant	4625				adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr14:23887535C>T	M58018	CCDS9601.1	14q11.2-q13	2014-09-17	2006-09-29		ENSG00000092054	ENSG00000092054		"Myosins / Myosin superfamily : Class II"	7577	protein-coding gene	gene with protein product		160760	"myopathy, distal 1", "myosin, heavy polypeptide 7, cardiac muscle, beta"	CMH1, MPD1		2494889, 8483915, 15322983	Standard	XM_005267696		Approved	CMD1S	uc001wjx.3	P12883	OTTHUMG00000028755	ENST00000355349.3:c.4053G>A	14.37:g.23887535C>T							p.T1351T	NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN		GBM - Glioblastoma multiforme(265;0.00725)	30	4215	-	all_cancers(95;2.54e-05)		1351					A2TDB6|B6D424|Q14836|Q14837|Q14904|Q16579|Q2M1Y6|Q92679|Q9H1D5|Q9UDA2|Q9UMM8	Silent	SNP	ENST00000355349.3	37	c.4053G>A	CCDS9601.1																																																																																				0.672	MYH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071798.3	NM_000257		3	69	0	0	0	1	0	3	69					T	23887535	C	T	23887535	2	4	282	1	0	0	0	0	0	0	0	1	10039	639	23	2		2	MYH7	14	23887535	Silent	SNP	C	TCGA-J4-AATV-01A-11D-A41K-08		23887535	83462005	4	12996											
ZFP106	64397	broad.mit.edu	37	chr15	42740292	42740292	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagtggctcttcgtttctttCtaatactttggccatcattt	6	19	6	10	1	4	0	1	0	3	0	5	0	4	0	1	2	1	2	1	2	2	7			TCGA-J4-AATV-01A-11D-A41K-08	TCGA-J4-AATV-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fbdfb5d-faed-48d4-a2e3-daea6ac7e9b1	93f8b7dd-abc6-4e05-b850-16523635aa29	g.chr15:42740292C>A	ENST00000263805.4	-	3	3370	c.3044G>T	c.(3043-3045)aGa>aTa	p.R1015I	ZNF106_ENST00000565611.1_Missense_Mutation_p.R200I|ZNF106_ENST00000565380.1_Missense_Mutation_p.R243I	NM_001284306.1|NM_001284307.1|NM_022473.1	NP_001271235.1|NP_001271236.1|NP_071918.1	Q9H2Y7	ZN106_HUMAN	zinc finger protein 106	1015					insulin receptor signaling pathway (GO:0008286)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)										TCGTTTCTTTCTAATACTTTG	0.448																																						ENST00000263805.4																			0											c.(3043-3045)aGa>aTa		zinc finger protein 106							161	149	153					15																	42740292		2203	4299	6502	SO:0001583	missense	64397							g.chr15:42740292C>A	AF205632	CCDS32208.1, CCDS61602.1, CCDS61603.1	15q15.1	2012-11-27	2012-11-27		ENSG00000103994	ENSG00000103994		"Zinc fingers, C2H2-type"	12886	protein-coding gene	gene with protein product	"SH3-domain binding protein 3"		"zinc finger protein 106 homolog (mouse)"	ZFP106			Standard	XM_005254591		Approved	ZNF474, SH3BP3	uc001zpw.3	Q9H2Y7	OTTHUMG00000173244	ENST00000263805.4:c.3044G>T	15.37:g.42740292C>A	ENSP00000263805:p.Arg1015Ile					ZNF106_ENST00000565380.1_Missense_Mutation_p.R243I|ZNF106_ENST00000565611.1_Missense_Mutation_p.R200I	p.R1015I	NM_022473.1	NP_071918.1					3	3370	-								B4DZ40|E9PE29|Q6NSD9|Q6PEK1|Q86T43|Q86T45|Q86T50|Q86T58|Q86TA9|Q96M37|Q9H7B8	Missense_Mutation	SNP	ENST00000263805.4	37	c.3044G>T	CCDS32208.1	.	.	.	.	.	.	.	.	.	.	C	15.69	2.908865	0.52439	.	.	ENSG00000103994	ENST00000263805;ENST00000434903	T	0.47528	0.84	5.23	4.28	0.50868	.	0.060843	0.64402	D	0.000002	T	0.56321	0.1977	L	0.47716	1.5	0.48901	D	0.999729	D;D;D	0.63880	0.993;0.991;0.993	P;P;P	0.57548	0.823;0.77;0.823	T	0.58047	-0.7705	10	0.56958	D	0.05	-22.3198	15.3941	0.74778	0.1393:0.8607:0.0:0.0	.	243;1015;243	E9PE29;Q9H2Y7;B4DZ40	.;ZF106_HUMAN;.	I	1015;243	ENSP00000263805:R1015I	ENSP00000263805:R1015I	R	-	2	0	ZFP106	40527584	1.000000	0.71417	0.977000	0.42913	0.089000	0.18198	6.455000	0.73497	2.709000	0.92574	0.655000	0.94253	AGA		0.448	ZNF106-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422587.1	NM_022473		4	124	1	0	0.014758	1	0.0177096	4	124					A	42740292	C	A	42740292	3	1	282	1	0	0	0	0	1	0	0	0	17634	913	32	5	2675	5	ZFP106	15	42740292	Missense_Mutation	SNP	C	TCGA-J4-AATV-01A-11D-A41K-08		42740292	59791100	5	12997											
EIF3J	8669	broad.mit.edu	37	chr15	44829572	44829572	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgcggaaggtggggggcggcGgcactgccggcggggaccgc	4	3	23	11	6	0	0	0	0	0	0	0	2	0	2	2	10	2	1	2	10	1	0			TCGA-J4-AATV-01A-11D-A41K-08	TCGA-J4-AATV-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fbdfb5d-faed-48d4-a2e3-daea6ac7e9b1	93f8b7dd-abc6-4e05-b850-16523635aa29	g.chr15:44829572G>T	ENST00000535391.1	+	2	106	c.94G>T	c.(94-96)Ggc>Tgc	p.G32C	EIF3J_ENST00000424492.3_Missense_Mutation_p.G32C|EIF3J-AS1_ENST00000313807.4_lincRNA|EIF3J_ENST00000261868.5_Missense_Mutation_p.G32C					eukaryotic translation initiation factor 3, subunit J											endometrium(1)|large_intestine(5)|liver(2)|skin(1)	9		all_cancers(109;2.81e-14)|all_epithelial(112;2.8e-12)|Lung NSC(122;1.66e-07)|all_lung(180;1.47e-06)|Melanoma(134;0.0122)		all cancers(107;3.13e-20)|GBM - Glioblastoma multiforme(94;9.81e-07)|COAD - Colon adenocarcinoma(120;0.0754)|Colorectal(105;0.0758)		GGGGGGCGGCGGCACTGCCGG	0.721																																						ENST00000261868.5																			0				endometrium(1)|large_intestine(5)|liver(2)|skin(1)	9						c.(94-96)Ggc>Tgc		eukaryotic translation initiation factor 3, subunit J							6	7	7					15																	44829572		2084	4089	6173	SO:0001583	missense	8669					cytosol|eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity	g.chr15:44829572G>T	U97670	CCDS10111.1, CCDS61612.1, CCDS61613.1	15q21.1	2014-05-13	2007-07-27	2007-07-27	ENSG00000104131	ENSG00000104131			3270	protein-coding gene	gene with protein product		603910	"eukaryotic translation initiation factor 3, subunit 1 alpha, 35kDa"	EIF3S1		9822659	Standard	NM_001284335		Approved	eIF3-p35, eIF3-alpha, eIF3j	uc001ztv.3	O75822	OTTHUMG00000131158	ENST00000535391.1:c.94G>T	15.37:g.44829572G>T	ENSP00000440221:p.Gly32Cys					EIF3J_ENST00000424492.3_Missense_Mutation_p.G32C|EIF3J_ENST00000535391.1_Missense_Mutation_p.G32C	p.G32C	NM_003758.2	NP_003749.2	O75822	EIF3J_HUMAN		all cancers(107;3.13e-20)|GBM - Glioblastoma multiforme(94;9.81e-07)|COAD - Colon adenocarcinoma(120;0.0754)|Colorectal(105;0.0758)	2	232	+		all_cancers(109;2.81e-14)|all_epithelial(112;2.8e-12)|Lung NSC(122;1.66e-07)|all_lung(180;1.47e-06)|Melanoma(134;0.0122)	32			Poly-Gly.|Sufficient for interaction with EIF3B.			Missense_Mutation	SNP	ENST00000535391.1	37	c.94G>T		.	.	.	.	.	.	.	.	.	.	G	13.62	2.292789	0.40594	.	.	ENSG00000104131	ENST00000261868;ENST00000535391;ENST00000424492	T;T	0.50001	0.91;0.76	4.38	4.38	0.52667	.	0.459127	0.16951	N	0.192906	T	0.59756	0.2217	L	0.40543	1.245	0.29640	N	0.844757	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.997;0.995;0.999	T	0.56655	-0.7943	10	0.56958	D	0.05	.	14.1267	0.65225	0.0:0.0:1.0:0.0	.	32;32;32	B4DUI3;F5H425;O75822	.;.;EIF3J_HUMAN	C	32	ENSP00000261868:G32C;ENSP00000414548:G32C	ENSP00000261868:G32C	G	+	1	0	EIF3J	42616864	1.000000	0.71417	1.000000	0.80357	0.095000	0.18619	1.894000	0.39768	2.441000	0.82636	0.650000	0.86243	GGC		0.721	EIF3J-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000396804.1	NM_003758		2	2	1	0	1	1	1	2	2					T	44829572	G	T	44829572	3	4	282	1	0	0	0	0	1	0	0	0	5020	1116	39	5	100	5	EIF3J	15	44829572	Missense_Mutation	SNP	G	TCGA-J4-AATV-01A-11D-A41K-08	2089280	44829572	57701820	6	12998											
GTF3C1	2975	broad.mit.edu	37	chr16	27472773	27472773	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagaaagccatggggctctcGtccaggctggagggcacttc	8	8	14	11	1	1	1	0	0	1	1	4	2	2	2	2	5	1	3	2	5	2	2			TCGA-J4-AATV-01A-11D-A41K-08	TCGA-J4-AATV-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fbdfb5d-faed-48d4-a2e3-daea6ac7e9b1	93f8b7dd-abc6-4e05-b850-16523635aa29	g.chr16:27472773G>A	ENST00000356183.4	-	37	6243	c.6228C>T	c.(6226-6228)gaC>gaT	p.D2076D	GTF3C1_ENST00000567806.1_5'Flank|GTF3C1_ENST00000561623.1_Silent_p.D2051D	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide 1, alpha 220kDa	2076					5S class rRNA transcription from RNA polymerase III type 1 promoter (GO:0042791)|gene expression (GO:0010467)|rRNA transcription (GO:0009303)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)|tRNA transcription (GO:0009304)|tRNA transcription from RNA polymerase III promoter (GO:0042797)	membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|transcription factor TFIIIC complex (GO:0000127)	DNA binding (GO:0003677)			breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						TGGGGCTCTCGTCCAGGCTGG	0.617																																						ENST00000356183.4																			0				breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						c.(6226-6228)gaC>gaT		general transcription factor IIIC, polypeptide 1, alpha 220kDa							99	89	93					16																	27472773		2197	4300	6497	SO:0001819	synonymous_variant	2975					transcription factor TFIIIC complex	DNA binding|protein binding	g.chr16:27472773G>A	U06485	CCDS32414.1, CCDS66988.1	16p12	2010-03-23	2002-08-29			ENSG00000077235		"General transcription factors"	4664	protein-coding gene	gene with protein product		603246	"general transcription factor IIIC, polypeptide 1 (alpha subunit, 220kD )"			8164661, 8127861	Standard	NM_001520		Approved	TFIIIC220	uc002dov.2	Q12789		ENST00000356183.4:c.6228C>T	16.37:g.27472773G>A						GTF3C1_ENST00000561623.1_Silent_p.D2051D	p.D2076D	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN			37	6243	-			2076					B2RP21|Q12838|Q6DKN9|Q9Y4W9	Silent	SNP	ENST00000356183.4	37	c.6228C>T	CCDS32414.1																																																																																				0.617	GTF3C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433856.1	NM_001520		5	87	0	0	0	1	0	5	87					A	27472773	G	A	27472773	2	1	282	1	0	0	0	0	0	0	0	1	6872	1136	40	1		1	GTF3C1	16	27472773	Silent	SNP	G	TCGA-J4-AATV-01A-11D-A41K-08		27472773	62881980	7	12999											
IKZF3	22806	broad.mit.edu	37	chr17	37985743	37985743	+	Splice_Site	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttcaaaaccgctgcactttcTaaaagataaaaggaatttta	17	12	5	7	1	2	1	1	0	1	1	2	2	2	2	1	1	2	2	1	1	8	6			TCGA-J4-AATV-01A-11D-A41K-08	TCGA-J4-AATV-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fbdfb5d-faed-48d4-a2e3-daea6ac7e9b1	93f8b7dd-abc6-4e05-b850-16523635aa29	g.chr17:37985743T>G	ENST00000346872.3	-	3	123		c.e3-2		IKZF3_ENST00000535189.1_Intron|IKZF3_ENST00000351680.3_Splice_Site|IKZF3_ENST00000377952.2_Splice_Site|IKZF3_ENST00000439016.2_Splice_Site|IKZF3_ENST00000377945.3_Splice_Site|IKZF3_ENST00000377958.2_Splice_Site|IKZF3_ENST00000394189.2_Splice_Site|IKZF3_ENST00000377944.3_Splice_Site|IKZF3_ENST00000439167.2_Intron|IKZF3_ENST00000467757.1_Splice_Site|IKZF3_ENST00000346243.3_Splice_Site|IKZF3_ENST00000350532.3_Splice_Site	NM_012481.4	NP_036613.2	Q9UKT9	IKZF3_HUMAN	IKAROS family zinc finger 3 (Aiolos)						B cell activation (GO:0042113)|mesoderm development (GO:0007498)|regulation of apoptotic process (GO:0042981)|regulation of B cell differentiation (GO:0045577)|regulation of B cell proliferation (GO:0030888)|regulation of lymphocyte differentiation (GO:0045619)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(6)|large_intestine(4)|liver(1)|lung(13)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	42	Breast(7;4.5e-103)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			CTGCACTTTCTAAAAGATAAA	0.348																																						ENST00000346872.3																			0				NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(6)|large_intestine(4)|liver(1)|lung(13)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	42						c.e3-2		IKAROS family zinc finger 3 (Aiolos)							75	67	70					17																	37985743		2203	4300	6503	SO:0001630	splice_region_variant	22806				B cell activation|mesoderm development|regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr17:37985743T>G	AF129512	CCDS11346.1, CCDS11347.1, CCDS11348.1, CCDS11349.1, CCDS11350.1, CCDS11351.1, CCDS58539.1, CCDS58540.1, CCDS58541.1, CCDS58542.1, CCDS58543.1, CCDS58544.1, CCDS58545.1, CCDS74055.1	17q11.2	2013-01-08	2006-08-25	2006-08-25	ENSG00000161405	ENSG00000161405		"Zinc fingers, C2H2-type", "IKAROS zinc fingers"	13178	protein-coding gene	gene with protein product		606221	"zinc finger protein, subfamily 1A, 3 (Aiolos)"	ZNFN1A3		9155026, 10552935	Standard	NM_012481		Approved	Aiolos	uc002hsu.4	Q9UKT9	OTTHUMG00000133250	ENST00000346872.3:c.62-2A>C	17.37:g.37985743T>G						IKZF3_ENST00000377958.2_Splice_Site|IKZF3_ENST00000351680.3_Splice_Site|IKZF3_ENST00000350532.3_Splice_Site|IKZF3_ENST00000346243.3_Splice_Site|IKZF3_ENST00000394189.2_Splice_Site|IKZF3_ENST00000467757.1_Splice_Site|IKZF3_ENST00000377944.3_Splice_Site|IKZF3_ENST00000377945.3_Splice_Site|IKZF3_ENST00000439016.2_Splice_Site|IKZF3_ENST00000535189.1_Intron|IKZF3_ENST00000439167.2_Intron|IKZF3_ENST00000377952.2_Splice_Site		NM_012481.4	NP_036613.2	Q9UKT9	IKZF3_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)		3	123	-	Breast(7;4.5e-103)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)							B4DVV5|Q69BL6|Q69BL7|Q69BL8|Q69BL9|Q69BM0|Q69BM1|Q69BM2|Q69BM3|Q69BM5|Q8N574|Q8WWQ9|Q8WWR0|Q8WWR1|Q8WWR2|Q8WWR3	Splice_Site	SNP	ENST00000346872.3	37		CCDS11346.1	.	.	.	.	.	.	.	.	.	.	T	13.48	2.251006	0.39797	.	.	ENSG00000161405	ENST00000488188;ENST00000346872;ENST00000377945;ENST00000394189;ENST00000377944;ENST00000377958;ENST00000377952;ENST00000351680;ENST00000346243;ENST00000350532;ENST00000467757	.	.	.	5.44	5.44	0.79542	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.8827	0.52583	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	IKZF3	35239269	1.000000	0.71417	0.997000	0.53966	0.385000	0.30292	4.051000	0.57412	2.061000	0.61500	0.528000	0.53228	.		0.348	IKZF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257004.2	NM_012481	Intron	4	59	0	0	0	1	0	4	59					G	37985743	T	G	37985743	5	3	282	1	0	0	0	0	0	0	1	0	7616	1536	53	5	1493	5	IKZF3	17	37985743	Splice_Site	SNP	T	TCGA-J4-AATV-01A-11D-A41K-08		37985743	43209467	8	13000											
CAPN6	827	broad.mit.edu	37	chrX	110494483	110494483	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagccccaggttcttgcgatCtgatgcagtcagttgctgcc	7	11	11	12	1	3	1	1	1	2	0	3	2	3	1	3	1	5	4	3	1	1	3			TCGA-J4-AATV-01A-11D-A41K-08	TCGA-J4-AATV-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fbdfb5d-faed-48d4-a2e3-daea6ac7e9b1	93f8b7dd-abc6-4e05-b850-16523635aa29	g.chrX:110494483C>A	ENST00000324068.1	-	7	1092	c.925G>T	c.(925-927)Gat>Tat	p.D309Y	CAPN6_ENST00000541758.1_Missense_Mutation_p.D54Y	NM_014289.3	NP_055104.2	Q9Y6Q1	CAN6_HUMAN	calpain 6	309	Calpain catalytic. {ECO:0000255|PROSITE- ProRule:PRU00239}.				microtubule bundle formation (GO:0001578)|proteolysis (GO:0006508)|regulation of cytoskeleton organization (GO:0051493)	perinuclear region of cytoplasm (GO:0048471)|spindle microtubule (GO:0005876)	calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|microtubule binding (GO:0008017)			cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(25)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	47						TTCTTGCGATCTGATGCAGTC	0.398																																						ENST00000324068.1																			0				cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(25)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	47						c.(925-927)Gat>Tat		calpain 6							44	38	40					X																	110494483		2203	4300	6503	SO:0001583	missense	827				microtubule bundle formation|proteolysis|regulation of cytoskeleton organization	perinuclear region of cytoplasm|spindle microtubule	calcium-dependent cysteine-type endopeptidase activity|microtubule binding	g.chrX:110494483C>A	AF029232	CCDS14555.1	Xq23	2008-07-29			ENSG00000077274	ENSG00000077274			1483	protein-coding gene	gene with protein product		300146				9503024, 9339374	Standard	NM_014289		Approved	CAPNX, CalpM, CANPX	uc004epc.2	Q9Y6Q1	OTTHUMG00000022203	ENST00000324068.1:c.925G>T	X.37:g.110494483C>A	ENSP00000317214:p.Asp309Tyr					CAPN6_ENST00000541758.1_Missense_Mutation_p.D54Y	p.D309Y	NM_014289.3	NP_055104.2	Q9Y6Q1	CAN6_HUMAN			7	1092	-			309			Calpain catalytic.		D3DUY7|Q9UEQ1|Q9UJA8	Missense_Mutation	SNP	ENST00000324068.1	37	c.925G>T	CCDS14555.1	.	.	.	.	.	.	.	.	.	.	C	13.23	2.174904	0.38413	.	.	ENSG00000077274	ENST00000324068;ENST00000541758	T;D	0.87887	0.99;-2.31	5.82	5.82	0.92795	Peptidase C2, calpain, catalytic domain (3);	0.268061	0.38164	N	0.001800	D	0.91106	0.7200	L	0.42744	1.35	0.58432	D	0.999999	D	0.64830	0.994	D	0.66196	0.942	D	0.91810	0.5459	10	0.87932	D	0	.	19.0651	0.93108	0.0:1.0:0.0:0.0	.	309	Q9Y6Q1	CAN6_HUMAN	Y	309;54	ENSP00000317214:D309Y;ENSP00000441736:D54Y	ENSP00000317214:D309Y	D	-	1	0	CAPN6	110381139	1.000000	0.71417	0.939000	0.37840	0.108000	0.19459	7.486000	0.81215	2.451000	0.82905	0.529000	0.55759	GAT		0.398	CAPN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057922.1			3	32	1	0	0.115264	1	0.129672	3	32					A	110494483	C	A	110494483	3	1	282	1	0	0	0	0	1	0	0	0	2630	913	32	5	1028	5	CAPN6	23	110494483	Missense_Mutation	SNP	C	TCGA-J4-AATV-01A-11D-A41K-08		110494483	44776077	9	13001											
ACTRT1	139741	broad.mit.edu	37	chrX	127185903	127185903	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gggttttactccaagctcccGctcaaagagatgtttccaga	10	11	9	11	1	1	2	1	0	0	2	4	3	4	2	3	1	2	4	3	1	3	3	rs373657442		TCGA-J4-AATV-01A-11D-A41K-08	TCGA-J4-AATV-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fbdfb5d-faed-48d4-a2e3-daea6ac7e9b1	93f8b7dd-abc6-4e05-b850-16523635aa29	g.chrX:127185903G>A	ENST00000371124.3	-	1	479	c.283C>T	c.(283-285)Cgg>Tgg	p.R95W		NM_138289.3	NP_612146.1	Q8TDG2	ACTT1_HUMAN	actin-related protein T1	95						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3)	34						CCAAGCTCCCGCTCAAAGAGA	0.473																																						ENST00000371124.3																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3)	34						c.(283-285)Cgg>Tgg		actin-related protein T1							219	209	212					X																	127185903		2203	4300	6503	SO:0001583	missense	139741					cytoplasm|cytoskeleton		g.chrX:127185903G>A	AF440739	CCDS14611.1	Xq25	2008-02-05	2005-11-22		ENSG00000123165	ENSG00000123165			24027	protein-coding gene	gene with protein product		300487				12243744	Standard	NM_138289		Approved	AIP1, KIAA0705, ARIP1, Arp-T1	uc004eum.3	Q8TDG2	OTTHUMG00000022359	ENST00000371124.3:c.283C>T	X.37:g.127185903G>A	ENSP00000360165:p.Arg95Trp						p.R95W	NM_138289.3	NP_612146.1	Q8TDG2	ACTT1_HUMAN			1	479	-			95					Q6X7C1|Q96L10	Missense_Mutation	SNP	ENST00000371124.3	37	c.283C>T	CCDS14611.1	.	.	.	.	.	.	.	.	.	.	G	0.793	-0.758173	0.03019	.	.	ENSG00000123165	ENST00000371124	D	0.94687	-3.49	3.76	-0.262	0.12958	.	0.998161	0.08111	N	0.996162	T	0.81389	0.4812	N	0.01824	-0.7	0.09310	N	0.999993	B	0.02656	0.0	B	0.01281	0.0	T	0.70890	-0.4749	10	0.87932	D	0	.	0.6231	0.00782	0.3598:0.1785:0.1092:0.3526	.	95	Q8TDG2	ACTT1_HUMAN	W	95	ENSP00000360165:R95W	ENSP00000360165:R95W	R	-	1	2	ACTRT1	127013584	0.000000	0.05858	0.002000	0.10522	0.007000	0.05969	0.148000	0.16224	-0.138000	0.11434	-1.938000	0.00498	CGG		0.473	ACTRT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058192.1	NM_138289		4	166	0	0	0	1	0	4	166					A	127185903	G	A	127185903	3	1	282	1	0	0	0	0	1	0	0	0	218	1086	38	1	851	1	ACTRT1	23	127185903	Missense_Mutation	SNP	G	TCGA-J4-AATV-01A-11D-A41K-08	16691420	127185903	28084657	10	13002											
ATP11C	286410	broad.mit.edu	37	chrX	138856996	138856996	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gctcagtgttggtctggaaaAggcggcaggcatagcatgtg	9	9	16	7	1	2	0	1	0	1	0	2	1	2	1	0	5	1	5	0	5	3	2			TCGA-J4-AATV-01A-11D-A41K-08	TCGA-J4-AATV-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fbdfb5d-faed-48d4-a2e3-daea6ac7e9b1	93f8b7dd-abc6-4e05-b850-16523635aa29	g.chrX:138856996A>G	ENST00000327569.3	-	19	2176	c.2078T>C	c.(2077-2079)cTt>cCt	p.L693P	ATP11C_ENST00000370543.1_Missense_Mutation_p.L693P|ATP11C_ENST00000370557.1_Missense_Mutation_p.L690P|ATP11C_ENST00000359686.2_Missense_Mutation_p.L693P|ATP11C_ENST00000361648.2_Missense_Mutation_p.L693P|ATP11C_ENST00000460773.1_5'UTR	NM_173694.4	NP_775965	Q8NB49	AT11C_HUMAN	ATPase, class VI, type 11C	693					ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|positive regulation of B cell differentiation (GO:0045579)|pre-B cell differentiation (GO:0002329)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			breast(2)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(31)|ovary(5)|prostate(1)|skin(3)	75	Acute lymphoblastic leukemia(192;0.000127)					GGTCTGGAAAAGGCGGCAGGC	0.453																																						ENST00000370557.1																			0				breast(2)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(31)|ovary(5)|prostate(1)|skin(3)	75						c.(2068-2070)cTt>cCt		ATPase, class VI, type 11C							184	159	167					X																	138856996		2203	4300	6503	SO:0001583	missense	286410				ATP biosynthetic process	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chrX:138856996A>G	AJ580094	CCDS14668.1, CCDS35410.1	Xq27.1	2011-06-09	2007-09-19		ENSG00000101974	ENSG00000101974		"ATPases / P-type"	13554	protein-coding gene	gene with protein product		300516	"ATPase, Class VI, type 11C"			11015572	Standard	NM_173694		Approved	ATPIG, ATPIQ	uc004faz.3	Q8NB49	OTTHUMG00000022538	ENST00000327569.3:c.2078T>C	X.37:g.138856996A>G	ENSP00000332756:p.Leu693Pro					ATP11C_ENST00000370543.1_Missense_Mutation_p.L693P|ATP11C_ENST00000361648.2_Missense_Mutation_p.L693P|ATP11C_ENST00000359686.2_Missense_Mutation_p.L693P|ATP11C_ENST00000460773.1_5'UTR|ATP11C_ENST00000327569.3_Missense_Mutation_p.L693P	p.L690P			Q8NB49	AT11C_HUMAN			19	3096	-	Acute lymphoblastic leukemia(192;0.000127)		693					Q5JT69|Q5JT70|Q5JT71|Q5JT72|Q5JT73|Q6ZND5|Q6ZU50|Q6ZUP7|Q70IJ9|Q70IK0|Q8WX24	Missense_Mutation	SNP	ENST00000327569.3	37	c.2069T>C	CCDS14668.1	.	.	.	.	.	.	.	.	.	.	A	21.1	4.100175	0.76983	.	.	ENSG00000101974	ENST00000370557;ENST00000361648;ENST00000327569;ENST00000370543;ENST00000359686	D;D;D;D;D	0.94092	-3.35;-3.35;-3.35;-3.35;-3.35	5.75	5.75	0.90469	HAD-like domain (2);	0.000000	0.85682	D	0.000000	D	0.98314	0.9441	H	0.99475	4.585	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.99331	1.0909	10	0.87932	D	0	.	14.1698	0.65503	1.0:0.0:0.0:0.0	.	693;693	Q8NB49-3;Q8NB49	.;AT11C_HUMAN	P	690;693;693;693;693	ENSP00000359588:L690P;ENSP00000355165:L693P;ENSP00000332756:L693P;ENSP00000359574:L693P;ENSP00000352715:L693P	ENSP00000332756:L693P	L	-	2	0	ATP11C	138684662	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	8.962000	0.93254	1.944000	0.56390	0.381000	0.24937	CTT		0.453	ATP11C-008	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000354945.1	NM_173694		3	74	0	0	0	1	0	3	74					G	138856996	A	G	138856996	3	3	282	1	0	0	0	0	1	0	0	0	1121	72	3	4	1431	4	ATP11C	23	138856996	Missense_Mutation	SNP	A	TCGA-J4-AATV-01A-11D-A41K-08	11671093	138856996	16413564	11	13003											
WDR3	10885	broad.mit.edu	37	chr1	118476063	118476063	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agaaaggacgttatgtggcaGtaccagcttgtgaacacgtt	12	10	12	7	2	0	2	0	1	0	1	0	3	0	3	1	2	3	5	1	2	4	4			TCGA-J4-AATZ-01A-11D-A41K-08	TCGA-J4-AATZ-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e172e5-0c3a-46a6-9a66-78f0c77d8f7f	5d6e5f5b-51e4-47f3-835d-ea897c775d3a	g.chr1:118476063G>A	ENST00000349139.5	+	2	168	c.121G>A	c.(121-123)Gta>Ata	p.V41I	WDR3_ENST00000369441.3_Intron|WDR3_ENST00000471680.1_3'UTR	NM_006784.2	NP_006775.1	Q9UNX4	WDR3_HUMAN	WD repeat domain 3	41						nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(9)|liver(2)|lung(22)|prostate(2)|upper_aerodigestive_tract(1)	49	Esophageal squamous(2;0.162)	all_cancers(81;2.72e-05)|Acute lymphoblastic leukemia(138;1e-08)|all_epithelial(167;4.4e-07)|all_lung(203;1.7e-06)|Lung NSC(69;1.98e-05)|Prostate(1639;0.00955)|Breast(1374;0.244)		OV - Ovarian serous cystadenocarcinoma(397;1.39e-08)|Epithelial(280;1.82e-07)|all cancers(265;2.04e-05)|Lung(183;0.0525)|BRCA - Breast invasive adenocarcinoma(282;0.0695)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.185)		TTATGTGGCAGTACCAGCTTG	0.438																																						ENST00000349139.4																			0				breast(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(9)|liver(2)|lung(22)|prostate(2)|upper_aerodigestive_tract(1)	49						c.(121-123)Gta>Ata		WD repeat domain 3							217	179	192					1																	118476063		2203	4300	6503	SO:0001583	missense	10885					nuclear membrane|nucleolus		g.chr1:118476063G>A	AF083217	CCDS898.1	1p12	2013-01-09			ENSG00000065183	ENSG00000065183		"WD repeat domain containing"	12755	protein-coding gene	gene with protein product		604737				10395803	Standard	NM_006784		Approved	FLJ12796, UTP12, DIP2	uc010oxe.1	Q9UNX4	OTTHUMG00000012197	ENST00000349139.5:c.121G>A	1.37:g.118476063G>A	ENSP00000308179:p.Val41Ile					WDR3_ENST00000369441.3_Intron|WDR3_ENST00000471680.1_3'UTR	p.V41I	NM_006784.2	NP_006775.1	Q9UNX4	WDR3_HUMAN		OV - Ovarian serous cystadenocarcinoma(397;1.39e-08)|Epithelial(280;1.82e-07)|all cancers(265;2.04e-05)|Lung(183;0.0525)|BRCA - Breast invasive adenocarcinoma(282;0.0695)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.185)	2	168	+	Esophageal squamous(2;0.162)	all_cancers(81;2.72e-05)|Acute lymphoblastic leukemia(138;1e-08)|all_epithelial(167;4.4e-07)|all_lung(203;1.7e-06)|Lung NSC(69;1.98e-05)|Prostate(1639;0.00955)|Breast(1374;0.244)	41						Missense_Mutation	SNP	ENST00000349139.5	37	c.121G>A	CCDS898.1	.	.	.	.	.	.	.	.	.	.	G	29.0	4.966398	0.92855	.	.	ENSG00000065183	ENST00000349139	D	0.81579	-1.51	5.19	5.19	0.71726	WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.111003	0.64402	D	0.000011	T	0.80248	0.4588	M	0.84219	2.685	0.80722	D	1	P	0.46395	0.877	B	0.43194	0.411	T	0.82878	-0.0239	9	.	.	.	-7.5478	18.7146	0.91671	0.0:0.0:1.0:0.0	.	41	Q9UNX4	WDR3_HUMAN	I	41	ENSP00000308179:V41I	.	V	+	1	0	WDR3	118277586	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	9.375000	0.97178	2.403000	0.81681	0.655000	0.94253	GTA		0.438	WDR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033720.2	NM_006784		4	96	0	0	0	1	0	4	96					A	118476063	G	A	118476063	3	1	283	1	0	0	0	0	1	0	0	0	17282	1029	36	3	123	3	WDR3	1	118476063	Missense_Mutation	SNP	G	TCGA-J4-AATZ-01A-11D-A41K-08		118476063	130774558	1	13004											
THBS3	7059	broad.mit.edu	37	chr1	155169845	155169845	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	atctcccaccccgtcctcatCcctgtctgtctgtagtgggt	4	13	8	16	1	4	0	1	0	3	0	7	0	6	0	5	1	0	1	5	1	1	1			TCGA-J4-AATZ-01A-11D-A41K-08	TCGA-J4-AATZ-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e172e5-0c3a-46a6-9a66-78f0c77d8f7f	5d6e5f5b-51e4-47f3-835d-ea897c775d3a	g.chr1:155169845C>G	ENST00000368378.3	-	15	1788	c.1768G>C	c.(1768-1770)Gat>Cat	p.D590H	RP11-263K19.4_ENST00000436772.1_RNA|RP11-263K19.4_ENST00000454348.1_RNA|THBS3_ENST00000457183.2_Missense_Mutation_p.D470H|RP11-263K19.4_ENST00000422665.1_RNA|RP11-263K19.4_ENST00000453136.1_RNA|THBS3_ENST00000541990.1_Missense_Mutation_p.D119H|THBS3_ENST00000541576.1_5'UTR|RP11-263K19.4_ENST00000447623.1_RNA|THBS3_ENST00000486260.1_5'Flank|RP11-263K19.4_ENST00000430312.1_RNA	NM_001252607.1|NM_007112.4	NP_001239536.1|NP_009043.1	P49746	TSP3_HUMAN	thrombospondin 3	590					bone trabecula formation (GO:0060346)|cell-matrix adhesion (GO:0007160)|growth plate cartilage development (GO:0003417)|ossification involved in bone maturation (GO:0043931)	extracellular region (GO:0005576)|perinuclear region of cytoplasm (GO:0048471)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)			breast(6)|endometrium(4)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(3)	48	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			CCGTCCTCATCCCTGTCTGTC	0.532																																						ENST00000368378.3																			0				breast(6)|endometrium(4)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(3)	48						c.(1768-1770)Gat>Cat		thrombospondin 3							134	119	124					1																	155169845		2203	4300	6503	SO:0001583	missense	7059				cell-matrix adhesion	extracellular region|perinuclear region of cytoplasm	calcium ion binding|heparin binding|structural molecule activity	g.chr1:155169845C>G	L38969	CCDS1099.1, CCDS58034.1, CCDS72937.1	1q21	2008-02-05			ENSG00000169231	ENSG00000169231			11787	protein-coding gene	gene with protein product		188062				1601886	Standard	NM_007112		Approved		uc001fix.3	P49746	OTTHUMG00000035710	ENST00000368378.3:c.1768G>C	1.37:g.155169845C>G	ENSP00000357362:p.Asp590His					THBS3_ENST00000541990.1_Missense_Mutation_p.D119H|THBS3_ENST00000541576.1_5'UTR|THBS3_ENST00000428962.2_Silent_p.G386G|RP11-263K19.4_ENST00000447623.1_RNA|RP11-263K19.4_ENST00000436772.1_RNA|THBS3_ENST00000487250.1_5'UTR|THBS3_ENST00000457183.2_Missense_Mutation_p.D470H|RP11-263K19.4_ENST00000453136.1_RNA|RP11-263K19.4_ENST00000454348.1_RNA	p.D590H	NM_001252607.1|NM_007112.4	NP_001239536.1|NP_009043.1	P49746	TSP3_HUMAN	Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)		15	1788	-	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		590					B1AVR8|B4DQ20|Q8WV34	Missense_Mutation	SNP	ENST00000368378.3	37	c.1768G>C	CCDS1099.1	.	.	.	.	.	.	.	.	.	.	C	26.8	4.767775	0.90020	.	.	ENSG00000169231	ENST00000368378;ENST00000457183;ENST00000541990	D;D;D	0.99923	-8.01;-8.01;-8.01	5.14	5.14	0.70334	.	0.000000	0.85682	D	0.000000	D	0.99957	0.9982	H	0.98295	4.195	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	D	0.96388	0.9287	10	0.87932	D	0	-21.4199	16.4898	0.84197	0.0:1.0:0.0:0.0	.	470;590;590;590	B4DQ20;Q53FK6;Q2HIZ0;P49746	.;.;.;TSP3_HUMAN	H	590;470;119	ENSP00000357362:D590H;ENSP00000392207:D470H;ENSP00000437353:D119H	ENSP00000357362:D590H	D	-	1	0	THBS3	153436469	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.609000	0.82925	2.837000	0.97791	0.655000	0.94253	GAT		0.532	THBS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086856.1	NM_007112		27	39	0	0	0	1	0	27	39					G	155169845	C	G	155169845	3	3	283	1	0	0	0	0	1	0	0	0	15852	855	30	5	1138	5	THBS3	1	155169845	Missense_Mutation	SNP	C	TCGA-J4-AATZ-01A-11D-A41K-08	36693782	155169845	94080776	2	13005											
THBS3	7059	broad.mit.edu	37	chr1	155173028	155173028	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccaaacctggtctcgtatatCatcccgcagctccaccagga	10	8	7	16	2	2	0	1	0	1	0	5	1	4	1	5	2	2	3	5	2	3	2	rs372530953		TCGA-J4-AATZ-01A-11D-A41K-08	TCGA-J4-AATZ-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e172e5-0c3a-46a6-9a66-78f0c77d8f7f	5d6e5f5b-51e4-47f3-835d-ea897c775d3a	g.chr1:155173028C>T	ENST00000368378.3	-	6	762	c.742G>A	c.(742-744)Gat>Aat	p.D248N	RP11-263K19.4_ENST00000436772.1_RNA|RP11-263K19.4_ENST00000454348.1_RNA|THBS3_ENST00000457183.2_Missense_Mutation_p.D128N|RP11-263K19.4_ENST00000422665.1_RNA|RP11-263K19.4_ENST00000453136.1_RNA|THBS3_ENST00000541990.1_5'UTR|THBS3_ENST00000541576.1_5'Flank|RP11-263K19.4_ENST00000447623.1_RNA|THBS3_ENST00000486260.1_5'UTR|RP11-263K19.4_ENST00000430312.1_RNA	NM_001252607.1|NM_007112.4	NP_001239536.1|NP_009043.1	P49746	TSP3_HUMAN	thrombospondin 3	248					bone trabecula formation (GO:0060346)|cell-matrix adhesion (GO:0007160)|growth plate cartilage development (GO:0003417)|ossification involved in bone maturation (GO:0043931)	extracellular region (GO:0005576)|perinuclear region of cytoplasm (GO:0048471)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)			breast(6)|endometrium(4)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(3)	48	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			TCTCGTATATCATCCCGCAGC	0.602																																						ENST00000368378.3																			0				breast(6)|endometrium(4)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(3)	48						c.(742-744)Gat>Aat		thrombospondin 3		C	ASN/ASP	0,4406		0,0,2203	91	85	87		742	5.9	1	1		87	1,8599	1.2+/-3.3	0,1,4299	no	missense	THBS3	NM_007112.3	23	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging	248/957	155173028	1,13005	2203	4300	6503	SO:0001583	missense	7059				cell-matrix adhesion	extracellular region|perinuclear region of cytoplasm	calcium ion binding|heparin binding|structural molecule activity	g.chr1:155173028C>T	L38969	CCDS1099.1, CCDS58034.1, CCDS72937.1	1q21	2008-02-05			ENSG00000169231	ENSG00000169231			11787	protein-coding gene	gene with protein product		188062				1601886	Standard	NM_007112		Approved		uc001fix.3	P49746	OTTHUMG00000035710	ENST00000368378.3:c.742G>A	1.37:g.155173028C>T	ENSP00000357362:p.Asp248Asn					THBS3_ENST00000541990.1_5'UTR|THBS3_ENST00000428962.2_Intron|RP11-263K19.4_ENST00000422665.1_RNA|RP11-263K19.4_ENST00000430312.1_RNA|THBS3_ENST00000487250.1_5'UTR|THBS3_ENST00000457183.2_Missense_Mutation_p.D128N|RP11-263K19.4_ENST00000453136.1_RNA	p.D248N	NM_001252607.1|NM_007112.4	NP_001239536.1|NP_009043.1	P49746	TSP3_HUMAN	Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)		6	762	-	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		248					B1AVR8|B4DQ20|Q8WV34	Missense_Mutation	SNP	ENST00000368378.3	37	c.742G>A	CCDS1099.1	.	.	.	.	.	.	.	.	.	.	C	35	5.435346	0.96150	0.0	1.16E-4	ENSG00000169231	ENST00000368378;ENST00000457183	T;T	0.37752	1.18;1.18	5.87	5.87	0.94306	Thrombospondin/cartilage oligomeric matrix protein, coiled-coil domain (1);	0.000000	0.85682	D	0.000000	T	0.43389	0.1245	L	0.54323	1.7	0.80722	D	1	P;D;P;D	0.58620	0.891;0.983;0.943;0.983	P;D;P;D	0.63703	0.588;0.917;0.817;0.917	T	0.03121	-1.1070	10	0.19147	T	0.46	-26.6924	18.0718	0.89410	0.0:1.0:0.0:0.0	.	128;248;248;248	B4DQ20;Q53FK6;Q2HIZ0;P49746	.;.;.;TSP3_HUMAN	N	248;128	ENSP00000357362:D248N;ENSP00000392207:D128N	ENSP00000357362:D248N	D	-	1	0	THBS3	153439652	1.000000	0.71417	0.999000	0.59377	0.990000	0.78478	6.815000	0.75242	2.941000	0.99782	0.655000	0.94253	GAT		0.602	THBS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086856.1	NM_007112		21	21	0	0	0	1	0	21	21					T	155173028	C	T	155173028	3	4	283	1	0	0	0	0	1	0	0	0	15852	826	29	3	2200	3	THBS3	1	155173028	Missense_Mutation	SNP	C	TCGA-J4-AATZ-01A-11D-A41K-08	3183	155173028	94077593	3	13006											
FMO1	2326	broad.mit.edu	37	chr1	171251205	171251205	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tcaggccaagcataaaagagGtaaaggaaaactctgtcata	18	7	9	7	0	3	1	2	0	1	1	3	2	3	2	1	3	2	2	1	3	8	3			TCGA-J4-AATZ-01A-11D-A41K-08	TCGA-J4-AATZ-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e172e5-0c3a-46a6-9a66-78f0c77d8f7f	5d6e5f5b-51e4-47f3-835d-ea897c775d3a	g.chr1:171251205G>A	ENST00000354841.4	+	6	1047	c.916G>A	c.(916-918)Gta>Ata	p.V306I	FMO1_ENST00000367750.3_Missense_Mutation_p.V306I|FMO1_ENST00000402921.2_Missense_Mutation_p.V243I|FMO1_ENST00000469112.1_3'UTR	NM_001282692.1	NP_001269621.1	Q01740	FMO1_HUMAN	flavin containing monooxygenase 1	306					NADPH oxidation (GO:0070995)|organic acid metabolic process (GO:0006082)|small molecule metabolic process (GO:0044281)|toxin metabolic process (GO:0009404)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum lumen (GO:0005788)|integral component of membrane (GO:0016021)	flavin adenine dinucleotide binding (GO:0050660)|monooxygenase activity (GO:0004497)|N,N-dimethylaniline monooxygenase activity (GO:0004499)|NADP binding (GO:0050661)			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(2)|skin(2)	27	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)				Cevimeline(DB00185)|Cimetidine(DB00501)|Lorcaserin(DB04871)|Tamoxifen(DB00675)|Vandetanib(DB05294)|Voriconazole(DB00582)	CATAAAAGAGGTAAAGGAAAA	0.408																																						ENST00000354841.4																			0				NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(2)|skin(2)	27						c.(916-918)Gta>Ata		flavin containing monooxygenase 1							105	97	100					1																	171251205		2203	4300	6503	SO:0001583	missense	2326				NADPH oxidation|organic acid metabolic process|toxin metabolic process|xenobiotic metabolic process	endoplasmic reticulum lumen|integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding	g.chr1:171251205G>A	M64082	CCDS1294.1, CCDS60351.1	1q24.3	2011-08-04			ENSG00000010932	ENSG00000010932	1.14.13.8		3769	protein-coding gene	gene with protein product		136130					Standard	XM_005245037		Approved		uc001ghl.3	Q01740	OTTHUMG00000035502	ENST00000354841.4:c.916G>A	1.37:g.171251205G>A	ENSP00000346901:p.Val306Ile					FMO1_ENST00000402921.2_Missense_Mutation_p.V243I|FMO1_ENST00000367750.3_Missense_Mutation_p.V306I|FMO1_ENST00000469112.1_3'UTR	p.V306I			Q01740	FMO1_HUMAN			6	1047	+	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)		306					A8K248|B7Z3P4|Q5QPT2|Q9UJC2	Missense_Mutation	SNP	ENST00000354841.4	37	c.916G>A	CCDS1294.1	.	.	.	.	.	.	.	.	.	.	G	4.974	0.180828	0.09443	.	.	ENSG00000010932	ENST00000367750;ENST00000402921;ENST00000354841	T;T;T	0.53423	0.62;0.62;0.62	6.16	5.26	0.73747	.	0.210963	0.42053	D	0.000770	T	0.12944	0.0314	N	0.20807	0.61	0.28999	N	0.88759	P;B;B	0.40398	0.716;0.024;0.195	B;B;B	0.35039	0.194;0.141;0.114	T	0.04678	-1.0934	10	0.44086	T	0.13	-15.704	6.2736	0.20969	0.1497:0.0:0.7002:0.1501	.	243;306;306	B7Z3P4;B2RCG5;Q01740	.;.;FMO1_HUMAN	I	306;243;306	ENSP00000356724:V306I;ENSP00000385543:V243I;ENSP00000346901:V306I	ENSP00000346901:V306I	V	+	1	0	FMO1	169517829	1.000000	0.71417	0.983000	0.44433	0.065000	0.16274	1.498000	0.35660	1.628000	0.50416	-0.145000	0.13849	GTA		0.408	FMO1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086212.1	NM_002021		13	78	0	0	0	1	0	13	78					A	171251205	G	A	171251205	3	1	283	1	0	0	0	0	1	0	0	0	5954	1261	44	3	938	3	FMO1	1	171251205	Missense_Mutation	SNP	G	TCGA-J4-AATZ-01A-11D-A41K-08	16078177	171251205	77999416	4	13007											
KCNT2	343450	broad.mit.edu	37	chr1	196254839	196254839	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	taaacaccctcccagcagcaAaaggcagtcgaaacataaag	18	4	7	12	1	0	0	0	0	0	0	2	1	1	0	2	1	4	3	2	1	7	2			TCGA-J4-AATZ-01A-11D-A41K-08	TCGA-J4-AATZ-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e172e5-0c3a-46a6-9a66-78f0c77d8f7f	5d6e5f5b-51e4-47f3-835d-ea897c775d3a	g.chr1:196254839A>G	ENST00000294725.9	-	23	3560	c.2645T>C	c.(2644-2646)tTt>tCt	p.F882S	KCNT2_ENST00000609185.1_Missense_Mutation_p.F808S|KCNT2_ENST00000367433.5_Missense_Mutation_p.F858S|KCNT2_ENST00000367431.4_Missense_Mutation_p.F808S|KCNT2_ENST00000498426.1_5'UTR|KCNT2_ENST00000451324.2_3'UTR			Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	882					potassium ion transmembrane transport (GO:0071805)	voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|calcium-activated potassium channel activity (GO:0015269)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						CCCAGCAGCAAAAGGCAGTCG	0.373																																						ENST00000367433.5																			0				NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						c.(2572-2574)tTt>tCt		potassium channel, subfamily T, member 2							85	83	83					1																	196254839		2203	4300	6503	SO:0001583	missense	343450					voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity	g.chr1:196254839A>G	BX647852, AY359444, AK127807	CCDS1384.1, CCDS72994.1, CCDS72995.1	1q31.3	2012-07-05			ENSG00000162687	ENSG00000162687		"Potassium channels", "Voltage-gated ion channels / Potassium channels, calcium-activated"	18866	protein-coding gene	gene with protein product	"sodium and chloride activated ATP sensitive potassium channel"	610044				16382103	Standard	NM_198503		Approved	KCa4.2, SLICK, SLO2.1	uc001gtd.1	Q6UVM3	OTTHUMG00000035611	ENST00000294725.9:c.2645T>C	1.37:g.196254839A>G	ENSP00000294725:p.Phe882Ser					KCNT2_ENST00000367431.4_Missense_Mutation_p.F808S|KCNT2_ENST00000294725.8_Missense_Mutation_p.F882S|KCNT2_ENST00000498426.1_5'UTR|KCNT2_ENST00000451324.2_3'UTR	p.F858S			Q6UVM3	KCNT2_HUMAN			22	2674	-			882					Q3SY59|Q5VTN1|Q6ZMT3	Missense_Mutation	SNP	ENST00000294725.9	37	c.2573T>C	CCDS1384.1	.	.	.	.	.	.	.	.	.	.	A	24.9	4.583224	0.86748	.	.	ENSG00000162687	ENST00000367433;ENST00000367431;ENST00000294725	T;T;T	0.77620	-1.11;-1.11;-1.11	5.67	5.67	0.87782	.	0.000000	0.64402	D	0.000002	D	0.89602	0.6762	M	0.88031	2.925	0.80722	D	1	D;D;D;D;D	0.69078	0.994;0.997;0.996;0.997;0.994	D;D;D;D;D	0.76575	0.915;0.98;0.961;0.988;0.915	D	0.91474	0.5199	10	0.87932	D	0	-27.8216	15.1733	0.72891	1.0:0.0:0.0:0.0	.	882;840;858;808;882	A9LNM6;Q6UVM3-4;Q6UVM3-2;Q6UVM3-3;Q6UVM3	.;.;.;.;KCNT2_HUMAN	S	858;808;882	ENSP00000356403:F858S;ENSP00000356401:F808S;ENSP00000294725:F882S	ENSP00000294725:F882S	F	-	2	0	KCNT2	194521462	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.608000	0.90895	2.287000	0.76781	0.482000	0.46254	TTT		0.373	KCNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086418.2	NM_198503		5	17	0	0	0	1	0	5	17					G	196254839	A	G	196254839	3	3	283	1	0	0	0	0	1	0	0	0	8092	14	1	4	786	4	KCNT2	1	196254839	Missense_Mutation	SNP	A	TCGA-J4-AATZ-01A-11D-A41K-08	25003634	196254839	52995782	5	13008											
SLC30A10	55532	broad.mit.edu	37	chr1	220091654	220091654	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tagcagaatggcagcggtctCcttgataagcgggaaggcag	11	7	15	8	2	1	2	0	1	1	1	2	3	1	3	1	4	3	3	1	4	4	3			TCGA-J4-AATZ-01A-11D-A41K-08	TCGA-J4-AATZ-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e172e5-0c3a-46a6-9a66-78f0c77d8f7f	5d6e5f5b-51e4-47f3-835d-ea897c775d3a	g.chr1:220091654C>T	ENST00000366926.3	-	3	1062	c.901G>A	c.(901-903)Gag>Aag	p.E301K	SLC30A10_ENST00000484079.1_5'UTR|SLC30A10_ENST00000536446.1_Missense_Mutation_p.E56K	NM_018713.2	NP_061183.2	Q6XR72	ZNT10_HUMAN	solute carrier family 30, member 10	301					zinc ion transport (GO:0006829)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cation transmembrane transporter activity (GO:0008324)			NS(1)|endometrium(1)|large_intestine(1)|lung(9)|skin(1)	13				GBM - Glioblastoma multiforme(131;0.051)|all cancers(67;0.209)		GCAGCGGTCTCCTTGATAAGC	0.468																																					Colon(76;360 1614 43677 51136)	ENST00000366926.3																			0				NS(1)|endometrium(1)|large_intestine(1)|lung(9)|skin(1)	13						c.(901-903)Gag>Aag		solute carrier family 30, member 10							149	150	150					1																	220091654		2203	4300	6503	SO:0001583	missense	55532				zinc ion transport	integral to membrane|plasma membrane	cation transmembrane transporter activity	g.chr1:220091654C>T	AY212919	CCDS31026.1	1q41	2013-05-22			ENSG00000196660	ENSG00000196660		"Solute carriers"	25355	protein-coding gene	gene with protein product	"zinc transporter 8"	611146				15154973	Standard	NR_046437		Approved	DKFZp547M236, ZnT-10, ZRC1, ZNT8	uc001hlw.3	Q6XR72	OTTHUMG00000037434	ENST00000366926.3:c.901G>A	1.37:g.220091654C>T	ENSP00000355893:p.Glu301Lys					SLC30A10_ENST00000484079.1_5'UTR|SLC30A10_ENST00000536446.1_Missense_Mutation_p.E56K	p.E301K	NM_018713.2	NP_061183.2	Q6XR72	ZNT10_HUMAN		GBM - Glioblastoma multiforme(131;0.051)|all cancers(67;0.209)	3	1062	-			301					Q49AL9|Q9NPW0	Missense_Mutation	SNP	ENST00000366926.3	37	c.901G>A	CCDS31026.1	.	.	.	.	.	.	.	.	.	.	C	36	5.818102	0.96982	.	.	ENSG00000196660	ENST00000366926;ENST00000536446	T;T	0.65732	-0.17;-0.17	6.01	6.01	0.97437	.	0.131603	0.53938	D	0.000050	T	0.76176	0.3951	L	0.51422	1.61	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	T	0.71715	-0.4509	9	.	.	.	-44.3032	20.5073	0.99209	0.0:1.0:0.0:0.0	.	301	Q6XR72	ZNT10_HUMAN	K	301;56	ENSP00000355893:E301K;ENSP00000439489:E56K	.	E	-	1	0	SLC30A10	218158277	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.585000	0.82584	2.855000	0.98099	0.585000	0.79938	GAG		0.468	SLC30A10-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357709.1	NM_018713		4	75	0	0	0	1	0	4	75					T	220091654	C	T	220091654	3	4	283	1	0	0	0	0	1	0	0	0	14554	864	30	3	564	3	SLC30A10	1	220091654	Missense_Mutation	SNP	C	TCGA-J4-AATZ-01A-11D-A41K-08	23836815	220091654	29158967	6	13009											
GCKR	2646	broad.mit.edu	37	chr2	27746165	27746165	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atcgccttgctgagcctcctAttccggtgctcgatcactga	6	12	9	14	3	1	2	1	2	0	0	5	3	3	2	4	1	3	2	4	1	1	3			TCGA-J4-AATZ-01A-11D-A41K-08	TCGA-J4-AATZ-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e172e5-0c3a-46a6-9a66-78f0c77d8f7f	5d6e5f5b-51e4-47f3-835d-ea897c775d3a	g.chr2:27746165A>T	ENST00000264717.2	+	19	1800	c.1737A>T	c.(1735-1737)ctA>ctT	p.L579L	GCKR_ENST00000424318.2_Silent_p.L389L	NM_001486.3	NP_001477.2	Q14397	GCKR_HUMAN	glucokinase (hexokinase 4) regulator	579					carbohydrate metabolic process (GO:0005975)|cellular glucose homeostasis (GO:0001678)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|negative regulation of glucokinase activity (GO:0033132)|positive regulation of glucokinase activity (GO:0033133)|protein import into nucleus, translocation (GO:0000060)|regulation of glucose transport (GO:0010827)|response to fructose (GO:0009750)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|triglyceride homeostasis (GO:0070328)|urate metabolic process (GO:0046415)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)	carbohydrate binding (GO:0030246)|enzyme inhibitor activity (GO:0004857)|fructose-6-phosphate binding (GO:0070095)			breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(2)|lung(13)|ovary(2)	29	Acute lymphoblastic leukemia(172;0.155)					TGAGCCTCCTATTCCGGTGCT	0.592																																						ENST00000264717.2																			0				breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(2)|lung(13)|ovary(2)	29						c.(1735-1737)ctA>ctT		glucokinase (hexokinase 4) regulator							61	52	55					2																	27746165		2203	4300	6503	SO:0001819	synonymous_variant	2646				carbohydrate metabolic process|glucose transport|negative regulation of glucokinase activity|positive regulation of gene expression|protein import into nucleus, translocation|regulation of glucose transport|response to fructose stimulus|transmembrane transport|triglyceride homeostasis|urate metabolic process	cytosol|nucleoplasm	fructose-6-phosphate binding|protein binding	g.chr2:27746165A>T	Z48475	CCDS1757.1	2p23	2008-05-21	2004-05-20		ENSG00000084734	ENSG00000084734			4196	protein-coding gene	gene with protein product		600842	"glucokinase (hexokinase 4) regulatory protein"			9570959, 8662230	Standard	NM_001486		Approved		uc002rky.3	Q14397	OTTHUMG00000128426	ENST00000264717.2:c.1737A>T	2.37:g.27746165A>T						GCKR_ENST00000424318.2_Silent_p.L389L	p.L579L	NM_001486.3	NP_001477.2	Q14397	GCKR_HUMAN			19	1800	+	Acute lymphoblastic leukemia(172;0.155)		579					A1L4C2|B4DPQ2|Q53RY6|Q99522	Silent	SNP	ENST00000264717.2	37	c.1737A>T	CCDS1757.1																																																																																				0.592	GCKR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250214.1	NM_001486		8	19	0	0	0	1	0	8	19					T	27746165	A	T	27746165	2	4	283	1	0	0	0	0	0	0	0	1	6294	436	16	5		5	GCKR	2	27746165	Silent	SNP	A	TCGA-J4-AATZ-01A-11D-A41K-08		27746165	215453208	7	13010											
VPS54	51542	broad.mit.edu	37	chr2	64211107	64211107	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgctgcttccttgaggcacTggtgaagaactgtggcttga	7	12	13	9	0	0	4	0	3	0	1	1	4	1	4	1	3	3	4	1	3	2	3			TCGA-J4-AATZ-01A-11D-A41K-08	TCGA-J4-AATZ-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e172e5-0c3a-46a6-9a66-78f0c77d8f7f	5d6e5f5b-51e4-47f3-835d-ea897c775d3a	g.chr2:64211107T>G	ENST00000272322.4	-	2	181	c.27A>C	c.(25-27)ccA>ccC	p.P9P	VPS54_ENST00000409558.4_Silent_p.P9P			Q9P1Q0	VPS54_HUMAN	vacuolar protein sorting 54 homolog (S. cerevisiae)	9					growth (GO:0040007)|homeostasis of number of cells within a tissue (GO:0048873)|musculoskeletal movement (GO:0050881)|neurofilament cytoskeleton organization (GO:0060052)|protein transport (GO:0015031)|retrograde transport, endosome to Golgi (GO:0042147)	GARP complex (GO:0000938)				endometrium(3)|kidney(4)|large_intestine(8)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	27						CTTGAGGCACTGGTGAAGAAC	0.413																																						ENST00000272322.4																			0				endometrium(3)|kidney(4)|large_intestine(8)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	27						c.(25-27)ccA>ccC		vacuolar protein sorting 54 homolog (S. cerevisiae)							131	129	130					2																	64211107		2203	4300	6503	SO:0001819	synonymous_variant	51542				protein transport|retrograde transport, endosome to Golgi			g.chr2:64211107T>G	AF102177	CCDS33208.1, CCDS46302.1	2p15-p14	2014-06-13	2006-12-19		ENSG00000143952	ENSG00000143952			18652	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 164"	614633	"vacuolar protein sorting 54 (yeast)"			12039048	Standard	NM_016516		Approved	HCC8, PPP1R164	uc002scq.3	Q9P1Q0	OTTHUMG00000152627	ENST00000272322.4:c.27A>C	2.37:g.64211107T>G						VPS54_ENST00000409558.3_Silent_p.P9P	p.P9P	NM_016516.2	NP_057600.2	Q9P1Q0	VPS54_HUMAN			2	181	-			9					Q5VIR5|Q86YF7|Q8N6G3|Q9NPV0|Q9NT07|Q9NUJ0	Silent	SNP	ENST00000272322.4	37	c.27A>C	CCDS33208.1																																																																																				0.413	VPS54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327062.2	NM_016516		35	77	0	0	0	1	0	35	77					G	64211107	T	G	64211107	2	3	283	1	0	0	0	0	0	0	0	1	17213	1567	55	5		5	VPS54	2	64211107	Silent	SNP	T	TCGA-J4-AATZ-01A-11D-A41K-08	36464942	64211107	178988266	8	13011											
RAB11FIP5	26056	broad.mit.edu	37	chr2	73316401	73316401	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtgacttcaatctcgccgcgTtccttctccttcttgcctgg	3	15	8	15	3	4	1	1	1	3	0	7	1	5	1	4	1	1	1	4	1	1	5			TCGA-J4-AATZ-01A-11D-A41K-08	TCGA-J4-AATZ-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e172e5-0c3a-46a6-9a66-78f0c77d8f7f	5d6e5f5b-51e4-47f3-835d-ea897c775d3a	g.chr2:73316401T>C	ENST00000258098.6	-	2	714	c.474A>G	c.(472-474)gaA>gaG	p.E158E	RAB11FIP5_ENST00000493523.2_5'UTR	NM_015470.2	NP_056285.1	Q9BXF6	RFIP5_HUMAN	RAB11 family interacting protein 5 (class I)	158					cellular response to acidic pH (GO:0071468)|insulin secretion involved in cellular response to glucose stimulus (GO:0035773)|protein transport (GO:0015031)|regulated secretory pathway (GO:0045055)|regulation of protein localization to cell surface (GO:2000008)	early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|microtubule organizing center (GO:0005815)|mitochondrial outer membrane (GO:0005741)|recycling endosome (GO:0055037)|secretory granule (GO:0030141)	gamma-tubulin binding (GO:0043015)			biliary_tract(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	23						TCTCGCCGCGTTCCTTCTCCT	0.582																																						ENST00000258098.6																			0				biliary_tract(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	23						c.(472-474)gaA>gaG		RAB11 family interacting protein 5 (class I)							305	288	294					2																	73316401		2203	4300	6503	SO:0001819	synonymous_variant	26056				protein transport	mitochondrial outer membrane|recycling endosome membrane	gamma-tubulin binding	g.chr2:73316401T>C	AF334812	CCDS1923.1	2p13	2008-02-05			ENSG00000135631	ENSG00000135631			24845	protein-coding gene	gene with protein product		605536				10048485, 11163216	Standard	NM_015470		Approved	GAF1, KIAA0857, RIP11, pp75	uc002sis.4	Q9BXF6	OTTHUMG00000129779	ENST00000258098.6:c.474A>G	2.37:g.73316401T>C						RAB11FIP5_ENST00000493523.2_5'UTR	p.E158E	NM_015470.2	NP_056285.1	Q9BXF6	RFIP5_HUMAN			2	714	-			158					O94939|Q9P0M1	Silent	SNP	ENST00000258098.6	37	c.474A>G	CCDS1923.1																																																																																				0.582	RAB11FIP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251995.1	NM_015470		36	229	0	0	0	1	0	36	229					C	73316401	T	C	73316401	2	2	283	1	0	0	0	0	0	0	0	1	12897	1722	60	4		4	RAB11FIP5	2	73316401	Silent	SNP	T	TCGA-J4-AATZ-01A-11D-A41K-08	9105294	73316401	169882972	9	13012											
FIGN	55137	broad.mit.edu	37	chr2	164467412	164467412	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttgagagaacttgctgaactGtttgtcagagccgacggtgc	9	11	13	8	2	1	4	1	2	0	2	1	6	1	4	1	1	5	2	1	1	2	3			TCGA-J4-AATZ-01A-11D-A41K-08	TCGA-J4-AATZ-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e172e5-0c3a-46a6-9a66-78f0c77d8f7f	5d6e5f5b-51e4-47f3-835d-ea897c775d3a	g.chr2:164467412G>C	ENST00000333129.3	-	3	1244	c.930C>G	c.(928-930)aaC>aaG	p.N310K	FIGN_ENST00000409634.1_Intron|FIGN_ENST00000482917.1_5'Flank	NM_018086.2	NP_060556.2	Q5HY92	FIGN_HUMAN	fidgetin	310					mitotic nuclear division (GO:0007067)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nuclear matrix (GO:0016363)	ATP binding (GO:0005524)			breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(1)|prostate(2)|skin(1)	47						TTGCTGAACTGTTTGTCAGAG	0.512																																						ENST00000333129.3																			0				breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(1)|prostate(2)|skin(1)	47						c.(928-930)aaC>aaG		fidgetin							76	78	77					2																	164467412		1972	4151	6123	SO:0001583	missense	55137					nuclear matrix	ATP binding|nucleoside-triphosphatase activity	g.chr2:164467412G>C	AK001267	CCDS2221.2	2q24	2010-04-21			ENSG00000182263	ENSG00000182263		"ATPases / AAA-type"	13285	protein-coding gene	gene with protein product		605295				11017077	Standard	XM_005246661		Approved		uc002uck.1	Q5HY92	OTTHUMG00000074059	ENST00000333129.3:c.930C>G	2.37:g.164467412G>C	ENSP00000333836:p.Asn310Lys					FIGN_ENST00000409634.1_Intron	p.N310K	NM_018086.2	NP_060556.2	Q5HY92	FIGN_HUMAN			3	1244	-			310					B3KWM0|Q9H6M5|Q9NVZ9	Missense_Mutation	SNP	ENST00000333129.3	37	c.930C>G	CCDS2221.2	.	.	.	.	.	.	.	.	.	.	G	12.37	1.918886	0.33908	.	.	ENSG00000182263	ENST00000333129	D	0.91792	-2.91	5.73	5.73	0.89815	.	0.260763	0.44688	D	0.000425	D	0.84147	0.5408	N	0.22421	0.69	0.51767	D	0.999932	B	0.20261	0.043	B	0.19391	0.025	T	0.77474	-0.2574	10	0.06365	T	0.9	-4.9171	13.1512	0.59490	0.0728:0.0:0.9271:0.0	.	310	Q5HY92	FIGN_HUMAN	K	310	ENSP00000333836:N310K	ENSP00000333836:N310K	N	-	3	2	FIGN	164175658	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.667000	0.68067	2.705000	0.92388	0.563000	0.77884	AAC		0.512	FIGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157220.2	NM_018086		5	47	0	0	0	1	0	5	47					C	164467412	G	C	164467412	3	2	283	1	0	0	0	0	1	0	0	0	5891	1368	48	5	1353	5	FIGN	2	164467412	Missense_Mutation	SNP	G	TCGA-J4-AATZ-01A-11D-A41K-08	91151011	164467412	78731961	10	13013											
DLEC1	9940	broad.mit.edu	37	chr3	38101265	38101265	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccagatggtgtatagacagcGagttgctacggaaacatcat	13	9	11	8	2	1	2	1	0	0	2	1	4	1	3	1	2	4	3	1	2	4	4			TCGA-J4-AATZ-01A-11D-A41K-08	TCGA-J4-AATZ-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e172e5-0c3a-46a6-9a66-78f0c77d8f7f	5d6e5f5b-51e4-47f3-835d-ea897c775d3a	g.chr3:38101265G>A	ENST00000308059.6	+	3	616	c.595G>A	c.(595-597)Gag>Aag	p.E199K	DLEC1_ENST00000452631.2_Missense_Mutation_p.E199K|DLEC1_ENST00000346219.3_Missense_Mutation_p.E199K					deleted in lung and esophageal cancer 1											NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(3)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	51				KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)		TATAGACAGCGAGTTGCTACG	0.468																																						ENST00000308059.6																			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(3)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	51						c.(595-597)Gag>Aag		deleted in lung and esophageal cancer 1							196	192	193					3																	38101265		1936	4147	6083	SO:0001583	missense	9940				negative regulation of cell proliferation	cytoplasm		g.chr3:38101265G>A	AB020522	CCDS2672.2	3p21.3	2014-07-31			ENSG00000008226	ENSG00000008226			2899	protein-coding gene	gene with protein product	"cilia and flagella associated protein 81"	604050				10213508	Standard	XM_005265630		Approved	DLC1, CFAP81	uc003chp.1	Q9Y238	OTTHUMG00000131085	ENST00000308059.6:c.595G>A	3.37:g.38101265G>A	ENSP00000308597:p.Glu199Lys					DLEC1_ENST00000452631.2_Missense_Mutation_p.E199K|DLEC1_ENST00000346219.3_Missense_Mutation_p.E199K	p.E199K			Q9Y238	DLEC1_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)	3	616	+			199						Missense_Mutation	SNP	ENST00000308059.6	37	c.595G>A	CCDS2672.2	.	.	.	.	.	.	.	.	.	.	G	5.905	0.351141	0.11182	.	.	ENSG00000008226	ENST00000308059;ENST00000346219;ENST00000452631	T;T;T	0.05925	3.39;3.37;3.62	4.99	0.0447	0.14227	.	0.639148	0.17125	N	0.186079	T	0.03095	0.0091	L	0.37850	1.14	0.09310	N	1	B;P;B	0.43392	0.252;0.805;0.252	B;B;B	0.27796	0.049;0.083;0.049	T	0.47222	-0.9134	10	0.23891	T	0.37	-10.0239	4.8199	0.13385	0.3467:0.1607:0.4926:0.0	.	199;199;199	F8W6T4;Q9Y238-3;Q9Y238	.;.;DLEC1_HUMAN	K	199	ENSP00000308597:E199K;ENSP00000315914:E199K;ENSP00000410427:E199K	ENSP00000308597:E199K	E	+	1	0	DLEC1	38076269	0.067000	0.21026	0.000000	0.03702	0.501000	0.33797	0.838000	0.27572	-0.192000	0.10432	-1.869000	0.00555	GAG		0.468	DLEC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253745.3	NM_007337		8	191	0	0	0	1	0	8	191					A	38101265	G	A	38101265	3	1	283	1	0	0	0	0	1	0	0	0	4552	1059	37	2	605	2	DLEC1	3	38101265	Missense_Mutation	SNP	G	TCGA-J4-AATZ-01A-11D-A41K-08		38101265	159921165	11	13014											
ZNF619	285267	broad.mit.edu	37	chr3	40529533	40529533	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gcctccccaacatacctgctCtgccctagccccaccagggc	7	6	7	21	0	1	0	0	0	1	0	2	0	2	0	8	1	5	1	8	1	3	2			TCGA-J4-AATZ-01A-11D-A41K-08	TCGA-J4-AATZ-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e172e5-0c3a-46a6-9a66-78f0c77d8f7f	5d6e5f5b-51e4-47f3-835d-ea897c775d3a	g.chr3:40529533C>G	ENST00000314686.5	+	6	1889	c.1484C>G	c.(1483-1485)tCt>tGt	p.S495C	ZNF619_ENST00000447116.2_Missense_Mutation_p.S551C|ZNF619_ENST00000522736.1_Missense_Mutation_p.S502C|ZNF619_ENST00000456778.1_Missense_Mutation_p.S467C|ZNF619_ENST00000520737.1_3'UTR|ZNF619_ENST00000521353.1_Missense_Mutation_p.S551C|ZNF619_ENST00000432264.2_Missense_Mutation_p.S511C|ZNF619_ENST00000429348.2_Missense_Mutation_p.S511C			Q8N2I2	ZN619_HUMAN	zinc finger protein 619	495					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	21				KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)		CATACCTGCTCTGCCCTAGCC	0.547																																						ENST00000447116.2																			0				breast(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	21						c.(1651-1653)tCt>tGt		zinc finger protein 619							145	102	117					3																	40529533		2203	4300	6503	SO:0001583	missense	285267				regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	g.chr3:40529533C>G	AK075245	CCDS46801.1, CCDS46802.1, CCDS46803.1	3p21.33	2013-01-08			ENSG00000177873	ENSG00000177873		"Zinc fingers, C2H2-type", "-"	26910	protein-coding gene	gene with protein product							Standard	NM_001145083		Approved	FLJ90764	uc011azb.2	Q8N2I2	OTTHUMG00000131391	ENST00000314686.5:c.1484C>G	3.37:g.40529533C>G	ENSP00000322529:p.Ser495Cys					ZNF619_ENST00000456778.1_Missense_Mutation_p.S467C|ZNF619_ENST00000314686.5_Missense_Mutation_p.S495C|ZNF619_ENST00000429348.2_Missense_Mutation_p.S511C|ZNF619_ENST00000432264.2_Missense_Mutation_p.S511C|ZNF619_ENST00000521353.1_Missense_Mutation_p.S551C|ZNF619_ENST00000520737.1_3'UTR|ZNF619_ENST00000522736.1_Missense_Mutation_p.S502C	p.S551C	NM_001145082.2	NP_001138554.1	E9PCD9	E9PCD9_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)	6	1959	+			551					B4E271|C9JRN5|D4PHA2|E9PCD9	Missense_Mutation	SNP	ENST00000314686.5	37	c.1652C>G		.	.	.	.	.	.	.	.	.	.	C	3.288	-0.145533	0.06627	.	.	ENSG00000177873	ENST00000314686;ENST00000447116;ENST00000429348;ENST00000456778;ENST00000442066;ENST00000522736;ENST00000521353;ENST00000432264	T;T;T;T;T;T;T	0.07021	3.23;3.29;3.44;3.25;3.25;3.29;3.44	1.97	-0.0424	0.13863	.	.	.	.	.	T	0.05135	0.0137	N	0.14661	0.345	0.09310	N	1	B;B;B;B;B;B	0.06786	0.001;0.001;0.001;0.001;0.001;0.001	B;B;B;B;B;B	0.04013	0.001;0.001;0.001;0.001;0.001;0.001	T	0.38090	-0.9677	9	0.87932	D	0	.	7.5774	0.27944	0.0:0.4703:0.5297:0.0	.	467;511;551;453;502;495	B4E271;C9JRN5;E9PCD9;B7Z9B3;Q17RW3;Q8N2I2	.;.;.;.;.;ZN619_HUMAN	C	495;551;511;467;132;502;551;511	ENSP00000322529:S495C;ENSP00000411132:S551C;ENSP00000398024:S511C;ENSP00000397232:S467C;ENSP00000428004:S502C;ENSP00000430705:S551C;ENSP00000388710:S511C	ENSP00000322529:S495C	S	+	2	0	ZNF619	40504537	0.000000	0.05858	0.002000	0.10522	0.010000	0.07245	-0.850000	0.04317	-0.025000	0.13918	0.462000	0.41574	TCT		0.547	ZNF619-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000254180.2	NM_173656		12	22	0	0	0	1	0	12	22					G	40529533	C	G	40529533	3	3	283	1	0	0	0	0	1	0	0	0	18040	913	32	5	1692	5	ZNF619	3	40529533	Missense_Mutation	SNP	C	TCGA-J4-AATZ-01A-11D-A41K-08	2428268	40529533	157492897	12	13015											
SEMA3F	6405	broad.mit.edu	37	chr3	50214257	50214257	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcagggaagggcaagtgtccGtacgatcccaagctggacac	11	6	13	11	2	1	0	1	0	0	0	3	3	3	2	2	3	2	3	2	3	4	1	rs201821675	byFrequency	TCGA-J4-AATZ-01A-11D-A41K-08	TCGA-J4-AATZ-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e172e5-0c3a-46a6-9a66-78f0c77d8f7f	5d6e5f5b-51e4-47f3-835d-ea897c775d3a	g.chr3:50214257G>A	ENST00000002829.3	+	7	1090	c.606G>A	c.(604-606)ccG>ccA	p.P202P	SEMA3F_ENST00000413852.1_Silent_p.P103P|SEMA3F_ENST00000434342.1_Silent_p.P171P	NM_004186.3	NP_004177.3	Q13275	SEM3F_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3F	202	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|branchiomotor neuron axon guidance (GO:0021785)|facial nerve structural organization (GO:0021612)|negative regulation of axon extension involved in axon guidance (GO:0048843)|nerve development (GO:0021675)|neural crest cell migration (GO:0001755)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|semaphorin-plexin signaling pathway involved in neuron projection guidance (GO:1902285)|sympathetic ganglion development (GO:0061549)|sympathetic neuron projection extension (GO:0097490)|sympathetic neuron projection guidance (GO:0097491)|trigeminal nerve structural organization (GO:0021637)	extracellular space (GO:0005615)|membrane (GO:0016020)	chemorepellent activity (GO:0045499)|receptor activity (GO:0004872)			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(2)	17				BRCA - Breast invasive adenocarcinoma(193;0.00013)|KIRC - Kidney renal clear cell carcinoma(197;0.00599)|Kidney(197;0.00688)		GCAAGTGTCCGTACGATCCCA	0.617													G|||	2	0.000399361	8e-04	0	5008	,	,		17234	0		0	False		,,,				2504	0.001					ENST00000002829.3																			0				central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(2)	17						c.(604-606)ccG>ccA		sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3F							172	142	152					3																	50214257		2203	4300	6503	SO:0001819	synonymous_variant	6405				axon guidance	extracellular space|membrane	chemorepellent activity|receptor activity	g.chr3:50214257G>A	U33920	CCDS2811.1	3p21.3	2013-01-11			ENSG00000001617	ENSG00000001617		"Semaphorins", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	10728	protein-coding gene	gene with protein product	"sema IV"	601124				8786119, 8649831	Standard	NM_004186		Approved	SEMAK, Sema4	uc003cyj.3	Q13275	OTTHUMG00000156806	ENST00000002829.3:c.606G>A	3.37:g.50214257G>A						SEMA3F_ENST00000434342.1_Silent_p.P171P|SEMA3F_ENST00000413852.1_Silent_p.P103P	p.P202P	NM_004186.3	NP_004177.3	Q13275	SEM3F_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00013)|KIRC - Kidney renal clear cell carcinoma(197;0.00599)|Kidney(197;0.00688)	7	1090	+			202			Sema.		C9JQ85|Q13274|Q13372|Q15704|Q6GTR4	Silent	SNP	ENST00000002829.3	37	c.606G>A	CCDS2811.1																																																																																				0.617	SEMA3F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345929.1	NM_004186		3	37	0	0	0	1	0	3	37					A	50214257	G	A	50214257	2	1	283	1	0	0	0	0	0	0	0	1	14029	1132	40	1		1	SEMA3F	3	50214257	Silent	SNP	G	TCGA-J4-AATZ-01A-11D-A41K-08	9684724	50214257	147808173	13	13016											
DCHS2	54798	broad.mit.edu	37	chr4	155237056	155237056	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ctgggatgaagaaagtgctgGtgtgccatcatccagtgcca	10	9	13	9	0	1	2	1	1	0	1	2	3	2	3	3	2	3	1	3	2	2	0			TCGA-J4-AATZ-01A-11D-A41K-08	TCGA-J4-AATZ-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e172e5-0c3a-46a6-9a66-78f0c77d8f7f	5d6e5f5b-51e4-47f3-835d-ea897c775d3a	g.chr4:155237056G>T	ENST00000357232.4	-	15	3738	c.3739C>A	c.(3739-3741)Cca>Aca	p.P1247T		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	1247	Cadherin 10. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		GAAAGTGCTGGTGTGCCATCA	0.408																																						ENST00000357232.3																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176						c.(3739-3741)Cca>Aca		dachsous cadherin-related 2							124	117	119					4																	155237056		2203	4300	6503	SO:0001583	missense	54798				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:155237056G>T	BC140919	CCDS3785.1, CCDS47150.1	4q32.1	2014-06-04	2013-10-04	2004-09-03		ENSG00000197410		"Cadherins / Cadherin-related"	23111	protein-coding gene	gene with protein product	"cadherin-related family member 7"	612486	"cadherin-like 27", "dachsous 2 (Drosophila)"	CDH27, PCDH23		15003449	Standard	NM_017639		Approved	CDHJ, FLJ20047, PCDHJ, CDHR7	uc003inw.2	Q6V1P9		ENST00000357232.4:c.3739C>A	4.37:g.155237056G>T	ENSP00000349768:p.Pro1247Thr						p.P1247T	NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN		LUSC - Lung squamous cell carcinoma(193;0.107)	15	3738	-	all_hematologic(180;0.208)	Renal(120;0.0854)	1247			Cadherin 10.		B2RU14|E9PC11|Q4W5P9|Q6ZS61|Q9NXU8	Missense_Mutation	SNP	ENST00000357232.4	37	c.3739C>A	CCDS3785.1	.	.	.	.	.	.	.	.	.	.	G	20.5	3.998623	0.74818	.	.	ENSG00000197410	ENST00000357232	T	0.56275	0.47	5.25	5.25	0.73442	Cadherin (4);Cadherin-like (1);	0.000000	0.64402	D	0.000002	T	0.78207	0.4247	M	0.88775	2.98	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.81611	-0.0854	10	0.59425	D	0.04	.	19.2148	0.93772	0.0:0.0:1.0:0.0	.	1247	Q6V1P9	PCD23_HUMAN	T	1247	ENSP00000349768:P1247T	ENSP00000349768:P1247T	P	-	1	0	DCHS2	155456506	1.000000	0.71417	0.128000	0.21923	0.767000	0.43475	9.174000	0.94824	2.630000	0.89119	0.460000	0.39030	CCA		0.408	DCHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365281.2	NM_001142552		17	23	1	0	2.48551e-13	1	2.74263e-13	17	23					T	155237056	G	T	155237056	3	4	283	1	0	0	0	0	1	0	0	0	4288	1261	44	5	5055	5	DCHS2	4	155237056	Missense_Mutation	SNP	G	TCGA-J4-AATZ-01A-11D-A41K-08		155237056	35917220	14	13017											
GRIA2	2891	broad.mit.edu	37	chr4	158255214	158255214	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgttacccttactgagctccCttctggaaatgacacctctg	8	13	7	13	0	2	2	0	2	2	0	3	3	3	3	3	1	3	2	3	1	3	3			TCGA-J4-AATZ-01A-11D-A41K-08	TCGA-J4-AATZ-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e172e5-0c3a-46a6-9a66-78f0c77d8f7f	5d6e5f5b-51e4-47f3-835d-ea897c775d3a	g.chr4:158255214C>T	ENST00000264426.9	+	9	1487	c.1208C>T	c.(1207-1209)cCt>cTt	p.P403L	GRIA2_ENST00000507898.1_Missense_Mutation_p.P356L|GRIA2_ENST00000393815.2_Missense_Mutation_p.P356L|GRIA2_ENST00000296526.7_Missense_Mutation_p.P403L|GRIA2_ENST00000449365.1_Missense_Mutation_p.P356L	NM_001083619.1	NP_001077088	P42262	GRIA2_HUMAN	glutamate receptor, ionotropic, AMPA 2	403					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)|ionotropic glutamate receptor activity (GO:0004970)			NS(1)|breast(2)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(2)|lung(32)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	79	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0294)	Amobarbital(DB01351)|Aprobarbital(DB01352)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Methylphenobarbital(DB00849)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Primidone(DB00794)|Quinidine barbiturate(DB01346)|Secobarbital(DB00418)|Talbutal(DB00306)|Thiopental(DB00599)	ACTGAGCTCCCTTCTGGAAAT	0.393																																						ENST00000296526.7																			0				NS(1)|breast(2)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(2)|lung(32)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	79						c.(1207-1209)cCt>cTt		glutamate receptor, ionotropic, AMPA 2	L-Glutamic Acid(DB00142)						193	178	183					4																	158255214		2203	4300	6503	SO:0001583	missense	2891				synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|endoplasmic reticulum membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity	g.chr4:158255214C>T		CCDS3797.1, CCDS43274.1, CCDS43275.1	4q32.1	2012-08-29			ENSG00000120251	ENSG00000120251		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4572	protein-coding gene	gene with protein product		138247		GLUR2		1311100	Standard	NM_001083619		Approved	GluA2, GLURB	uc003ipl.4	P42262	OTTHUMG00000133836	ENST00000264426.9:c.1208C>T	4.37:g.158255214C>T	ENSP00000264426:p.Pro403Leu					GRIA2_ENST00000507898.1_Missense_Mutation_p.P356L|GRIA2_ENST00000449365.1_Missense_Mutation_p.P356L|GRIA2_ENST00000264426.9_Missense_Mutation_p.P403L|GRIA2_ENST00000393815.2_Missense_Mutation_p.P356L	p.P403L	NM_000826.3	NP_000817.2	P42262	GRIA2_HUMAN		COAD - Colon adenocarcinoma(41;0.0294)	9	1533	+	all_hematologic(180;0.24)	Renal(120;0.0458)	403					A8MT92|I6L997|Q96FP6	Missense_Mutation	SNP	ENST00000264426.9	37	c.1208C>T	CCDS43274.1	.	.	.	.	.	.	.	.	.	.	C	7.286	0.610186	0.14066	.	.	ENSG00000120251	ENST00000507898;ENST00000393815;ENST00000296526;ENST00000264426;ENST00000449365	T;T;T;T;T	0.13778	2.56;2.56;2.61;2.61;2.56	5.5	5.5	0.81552	.	0.064489	0.64402	D	0.000006	T	0.05777	0.0151	N	0.02539	-0.55	0.48511	D	0.999666	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.08055	0.0;0.003;0.0	T	0.36625	-0.9740	10	0.37606	T	0.19	.	10.2675	0.43464	0.0:0.8526:0.0:0.1474	.	403;403;356	P42262;P42262-2;A8MT92	GRIA2_HUMAN;.;.	L	356;356;403;403;356	ENSP00000426845:P356L;ENSP00000377403:P356L;ENSP00000296526:P403L;ENSP00000264426:P403L;ENSP00000389837:P356L	ENSP00000264426:P403L	P	+	2	0	GRIA2	158474664	0.980000	0.34600	0.984000	0.44739	0.961000	0.63080	2.899000	0.48679	2.736000	0.93811	0.591000	0.81541	CCT		0.393	GRIA2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000258367.2			9	106	0	0	0	1	0	9	106					T	158255214	C	T	158255214	3	4	283	1	0	0	0	0	1	0	0	0	6768	681	24	3	1242	3	GRIA2	4	158255214	Missense_Mutation	SNP	C	TCGA-J4-AATZ-01A-11D-A41K-08	3018158	158255214	32899062	15	13018											
CDH12	1010	broad.mit.edu	37	chr5	21842308	21842308	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gattgtcattgacatcggtgAgagtgatgttgactattgtt	9	16	12	4	1	1	4	1	4	0	1	2	6	1	4	0	1	0	2	0	1	1	6			TCGA-J4-AATZ-01A-11D-A41K-08	TCGA-J4-AATZ-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e172e5-0c3a-46a6-9a66-78f0c77d8f7f	5d6e5f5b-51e4-47f3-835d-ea897c775d3a	g.chr5:21842308A>T	ENST00000382254.1	-	8	1862	c.776T>A	c.(775-777)cTc>cAc	p.L259H	CDH12_ENST00000522262.1_Missense_Mutation_p.L219H|CDH12_ENST00000504376.2_Missense_Mutation_p.L259H|CDH12_ENST00000521384.1_5'UTR	NM_004061.3	NP_004052.2	P55289	CAD12_HUMAN	cadherin 12, type 2 (N-cadherin 2)	259	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						GACATCGGTGAGAGTGATGTT	0.403										HNSCC(59;0.17)																												ENST00000382254.1																			0				NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						c.(775-777)cTc>cAc		cadherin 12, type 2 (N-cadherin 2)							384	289	322					5																	21842308		2203	4300	6503	SO:0001583	missense	1010				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:21842308A>T	L33477	CCDS3890.1	5p14.3	2010-01-26			ENSG00000154162	ENSG00000154162		"Cadherins / Major cadherins"	1751	protein-coding gene	gene with protein product		600562				7731968	Standard	NM_004061		Approved	Br-cadherin, CDHB	uc003jgk.2	P55289	OTTHUMG00000090591	ENST00000382254.1:c.776T>A	5.37:g.21842308A>T	ENSP00000371689:p.Leu259His	HNSCC(59;0.17)				CDH12_ENST00000504376.2_Missense_Mutation_p.L259H|CDH12_ENST00000522262.1_Missense_Mutation_p.L219H|CDH12_ENST00000521384.1_5'UTR	p.L259H	NM_004061.3	NP_004052.2	P55289	CAD12_HUMAN			8	1862	-			259			Cadherin 2.		B2RBT1|B7Z2U6|Q86UD2	Missense_Mutation	SNP	ENST00000382254.1	37	c.776T>A	CCDS3890.1	.	.	.	.	.	.	.	.	.	.	A	22.6	4.314636	0.81358	.	.	ENSG00000154162	ENST00000504376;ENST00000382254;ENST00000522262	T;T;T	0.63096	0.46;0.46;-0.02	5.73	4.55	0.56014	Cadherin (5);Cadherin conserved site (1);Cadherin-like (1);	0.053759	0.85682	D	0.000000	T	0.81356	0.4805	M	0.89478	3.035	0.58432	D	0.999996	D;D	0.89917	1.0;1.0	D;D	0.97110	0.993;1.0	D	0.84175	0.0436	10	0.87932	D	0	.	12.9127	0.58189	0.8641:0.1359:0.0:0.0	.	219;259	B7Z2U6;P55289	.;CAD12_HUMAN	H	259;259;219	ENSP00000423577:L259H;ENSP00000371689:L259H;ENSP00000428786:L219H	ENSP00000371689:L259H	L	-	2	0	CDH12	21878065	1.000000	0.71417	0.997000	0.53966	0.972000	0.66771	9.152000	0.94680	0.961000	0.38030	0.533000	0.62120	CTC		0.403	CDH12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207139.1	NM_004061		6	71	0	0	0	1	0	6	71					T	21842308	A	T	21842308	3	4	283	1	0	0	0	0	1	0	0	0	3098	304	11	5	1640	5	CDH12	5	21842308	Missense_Mutation	SNP	A	TCGA-J4-AATZ-01A-11D-A41K-08		21842308	159072952	16	13019											
AGXT2	64902	broad.mit.edu	37	chr5	35014092	35014092	+	Splice_Site	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aaactgcctgtgggtcctacCtggagtggttatgactgctg	7	12	13	9	0	0	1	0	1	0	0	1	2	1	2	3	3	4	2	3	3	3	2			TCGA-J4-AATZ-01A-11D-A41K-08	TCGA-J4-AATZ-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e172e5-0c3a-46a6-9a66-78f0c77d8f7f	5d6e5f5b-51e4-47f3-835d-ea897c775d3a	g.chr5:35014092C>G	ENST00000231420.6	-	10	1296	c.1096G>C	c.(1096-1098)Gag>Cag	p.E366Q		NM_031900.3	NP_114106.1	Q9BYV1	AGT2_HUMAN	alanine--glyoxylate aminotransferase 2	366					cellular nitrogen compound metabolic process (GO:0034641)|glycine biosynthetic process, by transamination of glyoxylate (GO:0019265)|glyoxylate catabolic process (GO:0009436)|glyoxylate metabolic process (GO:0046487)|L-alanine catabolic process, by transamination (GO:0019481)|nucleobase-containing small molecule metabolic process (GO:0055086)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	(R)-3-amino-2-methylpropionate-pyruvate transaminase activity (GO:0047305)|alanine-glyoxylate transaminase activity (GO:0008453)|beta-alanine-pyruvate transaminase activity (GO:0016223)|pyridoxal phosphate binding (GO:0030170)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(18)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	41	all_lung(31;4.52e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)	GBM - Glioblastoma multiforme(108;0.181)	Glycine(DB00145)|L-Alanine(DB00160)|Pyruvic acid(DB00119)	TGGGTCCTACCTGGAGTGGTT	0.507																																						ENST00000231420.6																			0				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(18)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	41						c.e10+1		alanine--glyoxylate aminotransferase 2	Glycine(DB00145)|L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114)|Pyruvic acid(DB00119)						204	163	177					5																	35014092		2203	4300	6503	SO:0001630	splice_region_variant	64902				glyoxylate metabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	mitochondrial matrix	(R)-3-amino-2-methylpropionate-pyruvate transaminase activity|alanine-glyoxylate transaminase activity|pyridoxal phosphate binding	g.chr5:35014092C>G	AJ292204	CCDS3908.1	5p13	2010-05-07	2010-05-07		ENSG00000113492	ENSG00000113492	2.6.1.44		14412	protein-coding gene	gene with protein product	"beta-alanine-pyruvate aminotransferase", "beta-ALAAT II"	612471	"alanine-glyoxylate aminotransferase 2"			15240345	Standard	NM_031900		Approved	AGT2	uc003jjf.3	Q9BYV1	OTTHUMG00000090788	ENST00000231420.6:c.1096+1G>C	5.37:g.35014092C>G							p.E366_splice	NM_031900.3	NP_114106.1	Q9BYV1	AGT2_HUMAN	COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)	GBM - Glioblastoma multiforme(108;0.181)	10	1296	-	all_lung(31;4.52e-05)		366					B7ZM47|E9PDL7|Q53FB4|Q53FY7|Q53G03|Q5W7Q1	Splice_Site	SNP	ENST00000231420.6	37	c.1096_splice	CCDS3908.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.105644	0.77096	.	.	ENSG00000113492	ENST00000231420	T	0.24350	1.86	5.88	5.88	0.94601	Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.046579	0.85682	D	0.000000	T	0.51346	0.1669	M	0.81341	2.54	0.80722	D	1	D	0.63046	0.992	P	0.59012	0.85	T	0.49532	-0.8930	9	.	.	.	-15.6581	18.7904	0.91971	0.0:1.0:0.0:0.0	.	366	Q9BYV1	AGT2_HUMAN	Q	366	ENSP00000231420:E366Q	.	E	-	1	0	AGXT2	35049849	1.000000	0.71417	1.000000	0.80357	0.903000	0.53119	6.892000	0.75644	2.769000	0.95229	0.655000	0.94253	GAG		0.507	AGXT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207574.2	NM_031900	Missense_Mutation	33	45	0	0	0	1	0	33	45					G	35014092	C	G	35014092	5	3	283	1	0	0	0	0	0	0	1	0	405	695	24	5	468	5	AGXT2	5	35014092	Splice_Site	SNP	C	TCGA-J4-AATZ-01A-11D-A41K-08	13171784	35014092	145901168	17	13020											
FSTL4	23105	broad.mit.edu	37	chr5	132537700	132537700	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caaagggtgtgcggatgaggTgctggctctggccggtgctg	5	9	19	8	2	1	1	0	1	1	0	1	2	1	2	1	6	3	3	1	6	1	0			TCGA-J4-AATZ-01A-11D-A41K-08	TCGA-J4-AATZ-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e172e5-0c3a-46a6-9a66-78f0c77d8f7f	5d6e5f5b-51e4-47f3-835d-ea897c775d3a	g.chr5:132537700T>C	ENST00000265342.7	-	15	2000	c.1751A>G	c.(1750-1752)cAc>cGc	p.H584R	CTB-49A3.2_ENST00000509051.1_RNA	NM_015082.1	NP_055897.1	Q6MZW2	FSTL4_HUMAN	follistatin-like 4	584						extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(8)|skin(2)|upper_aerodigestive_tract(1)	23		all_cancers(142;0.244)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GCGGATGAGGTGCTGGCTCTG	0.557																																						ENST00000265342.7																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(8)|skin(2)|upper_aerodigestive_tract(1)	23						c.(1750-1752)cAc>cGc		follistatin-like 4							181	169	173					5																	132537700		2203	4300	6503	SO:0001583	missense	23105					extracellular region	calcium ion binding	g.chr5:132537700T>C	AB028984	CCDS34238.1	5q31.1	2013-01-29			ENSG00000053108	ENSG00000053108		"EF-hand domain containing", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	21389	protein-coding gene	gene with protein product						10470851, 15527507	Standard	NM_015082		Approved	KIAA1061	uc003kyn.1	Q6MZW2	OTTHUMG00000162729	ENST00000265342.7:c.1751A>G	5.37:g.132537700T>C	ENSP00000265342:p.His584Arg					CTB-49A3.2_ENST00000509051.1_RNA	p.H584R	NM_015082.1	NP_055897.1	Q6MZW2	FSTL4_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		15	2000	-		all_cancers(142;0.244)	584					Q8TBU0|Q9UPU1	Missense_Mutation	SNP	ENST00000265342.7	37	c.1751A>G	CCDS34238.1	.	.	.	.	.	.	.	.	.	.	T	10.30	1.311541	0.23821	.	.	ENSG00000053108	ENST00000265342;ENST00000360575	T	0.27890	1.64	5.37	4.21	0.49690	WD40/YVTN repeat-like-containing domain (1);	0.097576	0.64402	N	0.000002	T	0.25195	0.0612	L	0.41632	1.29	0.48040	D	0.99957	B;B	0.15473	0.001;0.013	B;B	0.20955	0.003;0.032	T	0.03840	-1.0999	10	0.33141	T	0.24	-25.3831	10.6606	0.45700	0.0:0.0756:0.0:0.9244	.	584;233	Q6MZW2;B3KPF3	FSTL4_HUMAN;.	R	584;415	ENSP00000265342:H584R	ENSP00000265342:H584R	H	-	2	0	FSTL4	132565599	1.000000	0.71417	1.000000	0.80357	0.339000	0.28857	2.261000	0.43276	0.990000	0.38787	0.482000	0.46254	CAC		0.557	FSTL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370212.1	XM_048786		8	83	0	0	0	1	0	8	83					C	132537700	T	C	132537700	3	2	283	1	0	0	0	0	1	0	0	0	6079	1696	59	4	785	4	FSTL4	5	132537700	Missense_Mutation	SNP	T	TCGA-J4-AATZ-01A-11D-A41K-08	97523608	132537700	48377560	18	13021											
MSX2	4488	broad.mit.edu	37	chr5	174156222	174156222	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaccaatcggaagccgcgcaCgccctttaccacatcccagc	10	5	8	18	4	0	0	0	0	0	0	2	2	1	1	5	1	3	1	5	1	3	2			TCGA-J4-AATZ-01A-11D-A41K-08	TCGA-J4-AATZ-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e172e5-0c3a-46a6-9a66-78f0c77d8f7f	5d6e5f5b-51e4-47f3-835d-ea897c775d3a	g.chr5:174156222C>T	ENST00000239243.6	+	2	567	c.440C>T	c.(439-441)aCg>aTg	p.T147M	MSX2_ENST00000507785.1_3'UTR	NM_002449.4	NP_002440.2	P35548	MSX2_HUMAN	msh homeobox 2	147					activation of meiosis (GO:0090427)|anagen (GO:0042640)|anterior/posterior pattern specification (GO:0009952)|BMP signaling pathway involved in heart development (GO:0061312)|bone trabecula formation (GO:0060346)|branching involved in mammary gland duct morphogenesis (GO:0060444)|cellular response to estradiol stimulus (GO:0071392)|cellular response to growth factor stimulus (GO:0071363)|chondrocyte development (GO:0002063)|cranial suture morphogenesis (GO:0060363)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic nail plate morphogenesis (GO:0035880)|enamel mineralization (GO:0070166)|endochondral bone growth (GO:0003416)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|frontal suture morphogenesis (GO:0060364)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of CREB transcription factor activity (GO:0032792)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of keratinocyte differentiation (GO:0045617)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|negative regulation of transcription, DNA-templated (GO:0045892)|osteoblast development (GO:0002076)|osteoblast differentiation (GO:0001649)|outflow tract septum morphogenesis (GO:0003148)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of catagen (GO:0051795)|positive regulation of mesenchymal cell apoptotic process (GO:2001055)|positive regulation of osteoblast differentiation (GO:0045669)|signal transduction involved in regulation of gene expression (GO:0023019)|wound healing, spreading of epidermal cells (GO:0035313)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity (GO:0000982)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding (GO:0043565)|transcription cofactor activity (GO:0003712)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)	10	Renal(175;0.000159)|Lung NSC(126;0.0196)|all_lung(126;0.0303)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			AAGCCGCGCACGCCCTTTACC	0.542																																						ENST00000239243.6																			0				breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)	10						c.(439-441)aCg>aTg		msh homeobox 2							61	54	56					5																	174156222		2203	4300	6503	SO:0001583	missense	4488				cranial suture morphogenesis|negative regulation of transcription, DNA-dependent|osteoblast differentiation	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	g.chr5:174156222C>T	D26145	CCDS4392.1	5q35.2	2011-06-20	2006-11-21		ENSG00000120149	ENSG00000120149		"Homeoboxes / ANTP class : NKL subclass"	7392	protein-coding gene	gene with protein product	"craniosynostosis, type 2"	123101	"msh (Drosophila) homeo box homolog 2", "parietal foramina 1", "msh homeobox homolog 2 (Drosophila)"	PFM1		8668339, 8786091	Standard	XM_006714868		Approved	CRS2, FPP, HOX8, MSH, PFM	uc003mcy.3	P35548	OTTHUMG00000130556	ENST00000239243.6:c.440C>T	5.37:g.174156222C>T	ENSP00000239243:p.Thr147Met					MSX2_ENST00000507785.1_3'UTR	p.T147M	NM_002449.4	NP_002440.2	P35548	MSX2_HUMAN	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)		2	567	+	Renal(175;0.000159)|Lung NSC(126;0.0196)|all_lung(126;0.0303)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214)	147					D3DQN1|Q53XM4|Q9UD60	Missense_Mutation	SNP	ENST00000239243.6	37	c.440C>T	CCDS4392.1	.	.	.	.	.	.	.	.	.	.	C	19.46	3.831347	0.71258	.	.	ENSG00000120149	ENST00000239243	D	0.97352	-4.35	5.72	5.72	0.89469	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	D	0.98947	0.9642	M	0.94021	3.485	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.99402	1.0928	10	0.87932	D	0	-18.3114	19.8548	0.96752	0.0:1.0:0.0:0.0	.	147	P35548	MSX2_HUMAN	M	147	ENSP00000239243:T147M	ENSP00000239243:T147M	T	+	2	0	MSX2	174088828	1.000000	0.71417	0.723000	0.30687	0.208000	0.24298	7.770000	0.85390	2.702000	0.92279	0.591000	0.81541	ACG		0.542	MSX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252981.3			8	12	0	0	0	1	0	8	12					T	174156222	C	T	174156222	3	4	283	1	0	0	0	0	1	0	0	0	9896	536	19	1	446	1	MSX2	5	174156222	Missense_Mutation	SNP	C	TCGA-J4-AATZ-01A-11D-A41K-08	41618522	174156222	6759038	19	13022											
SYNCRIP	10492	broad.mit.edu	37	chr6	86324853	86324853	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cccttgctcctctaccacccCttcctctagctccaacttga	6	12	3	20	0	2	1	0	1	2	0	5	1	5	1	7	0	4	2	7	0	3	5			TCGA-J4-AATZ-01A-11D-A41K-08	TCGA-J4-AATZ-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e172e5-0c3a-46a6-9a66-78f0c77d8f7f	5d6e5f5b-51e4-47f3-835d-ea897c775d3a	g.chr6:86324853C>A	ENST00000369622.3	-	11	1993	c.1493G>T	c.(1492-1494)aGg>aTg	p.R498M	SYNCRIP_ENST00000355238.6_Missense_Mutation_p.R498M|RP11-321N4.5_ENST00000503906.1_Missense_Mutation_p.G34W	NM_001159675.1|NM_006372.4	NP_001153147.1|NP_006363.4	O60506	HNRPQ_HUMAN	synaptotagmin binding, cytoplasmic RNA interacting protein	498	8 X 3 AA repeats of R-G-G.|Interaction with APOBEC1.				cellular response to interferon-gamma (GO:0071346)|CRD-mediated mRNA stabilization (GO:0070934)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of translation (GO:0017148)|osteoblast differentiation (GO:0001649)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|viral process (GO:0016032)	catalytic step 2 spliceosome (GO:0071013)|CRD-mediated mRNA stability complex (GO:0070937)|endoplasmic reticulum (GO:0005783)|GAIT complex (GO:0097452)|histone pre-mRNA 3'end processing complex (GO:0071204)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	33		all_cancers(76;0.000137)|Acute lymphoblastic leukemia(125;3.66e-08)|Prostate(29;8.2e-07)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0297)		BRCA - Breast invasive adenocarcinoma(108;0.0389)		TCTACCACCCCTTCCTCTAGC	0.478																																						ENST00000355238.6																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	33						c.(1492-1494)aGg>aTg		synaptotagmin binding, cytoplasmic RNA interacting protein							62	58	59					6																	86324853		2203	4300	6503	SO:0001583	missense	10492				CRD-mediated mRNA stabilization|interspecies interaction between organisms	catalytic step 2 spliceosome|CRD-mediated mRNA stability complex|endoplasmic reticulum|histone pre-mRNA 3'end processing complex|microsome|nucleoplasm	nucleotide binding|protein binding	g.chr6:86324853C>A	AF037448	CCDS5005.1, CCDS55041.1, CCDS75491.1	6q14-q15	2013-05-23			ENSG00000135316	ENSG00000135316		"RNA binding motif (RRM) containing"	16918	protein-coding gene	gene with protein product	"heterogeneous nuclear ribonucleoprotein Q"					9847309, 11352648	Standard	NM_006372		Approved	NSAP1, GRY-RBP, dJ3J17.2, HNRPQ1, hnRNP-Q, HNRNPQ	uc003pla.2	O60506	OTTHUMG00000015141	ENST00000369622.3:c.1493G>T	6.37:g.86324853C>A	ENSP00000358635:p.Arg498Met					RP11-321N4.5_ENST00000503906.1_Missense_Mutation_p.G34W|SYNCRIP_ENST00000369622.3_Missense_Mutation_p.R498M	p.R498M	NM_001159673.1|NM_001159674.1|NM_001159676.1|NM_001159677.1|NM_001253771.1	NP_001153145.1|NP_001153146.1|NP_001153148.1|NP_001153149.1|NP_001240700.1	O60506	HNRPQ_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0389)	11	1699	-		all_cancers(76;0.000137)|Acute lymphoblastic leukemia(125;3.66e-08)|Prostate(29;8.2e-07)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0297)	498			8 X 3 AA repeats of R-G-G.|Interaction with APOBEC1.		E1P501|E1P502|Q53H05|Q5TCG2|Q5TCG3|Q8IW78|Q8N599|Q96LC1|Q96LC2|Q9Y583	Missense_Mutation	SNP	ENST00000369622.3	37	c.1493G>T	CCDS5005.1	.	.	.	.	.	.	.	.	.	.	C	13.25	2.180467	0.38511	.	.	ENSG00000135316	ENST00000355238;ENST00000369622	T;T	0.29397	1.57;1.57	5.4	4.51	0.55191	.	0.044666	0.85682	D	0.000000	T	0.21145	0.0509	M	0.63843	1.955	0.80722	D	1	P;P;B;B;P;P;B	0.47910	0.742;0.902;0.054;0.264;0.729;0.478;0.346	B;B;B;B;B;B;B	0.41946	0.205;0.371;0.085;0.176;0.371;0.371;0.135	T	0.02457	-1.1156	10	0.34782	T	0.22	.	15.908	0.79445	0.0:0.8643:0.1357:0.0	.	498;463;400;346;463;498;498	O60506;O60506-2;B7Z645;O60506-5;O60506-4;O60506-3;B2R8Z8	HNRPQ_HUMAN;.;.;.;.;.;.	M	498	ENSP00000347380:R498M;ENSP00000358635:R498M	ENSP00000347380:R498M	R	-	2	0	SYNCRIP	86381572	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.818000	0.86416	1.233000	0.43693	0.563000	0.77884	AGG		0.478	SYNCRIP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041396.1	NM_006372		4	40	1	0	1	1	1	4	40					A	86324853	C	A	86324853	3	1	283	1	0	0	0	0	1	0	0	0	15441	681	24	5	428	5	SYNCRIP	6	86324853	Missense_Mutation	SNP	C	TCGA-J4-AATZ-01A-11D-A41K-08		86324853	84790214	20	13023											
FNDC1	84624	broad.mit.edu	37	chr6	159653589	159653589	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtccccgtccagcgttctccGcgacagaagctctgtgcacc	6	8	10	17	4	2	1	0	0	2	1	5	2	4	1	5	0	3	3	5	0	1	1			TCGA-J4-AATZ-01A-11D-A41K-08	TCGA-J4-AATZ-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e172e5-0c3a-46a6-9a66-78f0c77d8f7f	5d6e5f5b-51e4-47f3-835d-ea897c775d3a	g.chr6:159653589G>A	ENST00000297267.9	+	11	2245	c.2045G>A	c.(2044-2046)cGc>cAc	p.R682H	FNDC1_ENST00000340366.6_Missense_Mutation_p.R619H	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	682	Ser-rich.				cellular response to hypoxia (GO:0071456)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of protein phosphorylation (GO:0001934)|regulation of protein transport (GO:0051223)	cell-cell junction (GO:0005911)|extracellular region (GO:0005576)|mitochondrial membrane (GO:0031966)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.R682H(1)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		AGCGTTCTCCGCGACAGAAGC	0.716																																						ENST00000297267.9																			1	Substitution - Missense(1)	p.R682H(1)	large_intestine(1)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93						c.(2044-2046)cGc>cAc		fibronectin type III domain containing 1							15	18	17					6																	159653589		1954	4109	6063	SO:0001583	missense	84624					extracellular region		g.chr6:159653589G>A	AB058769	CCDS47512.1	6q25	2013-02-11			ENSG00000164694	ENSG00000164694		"Fibronectin type III domain containing"	21184	protein-coding gene	gene with protein product		609991	"fibronectin type III domain containing 2"	FNDC2		11347906	Standard	NM_032532		Approved	bA243O10.1, KIAA1866, dJ322A24.1	uc010kjv.3	Q4ZHG4	OTTHUMG00000015927	ENST00000297267.9:c.2045G>A	6.37:g.159653589G>A	ENSP00000297267:p.Arg682His					FNDC1_ENST00000340366.6_Missense_Mutation_p.R619H	p.R682H	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)	11	2245	+		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)	682			Ser-rich.		A6H8X2|B7ZBR4|B7ZBR5|B9EK49|Q5JPI0|Q5VU31|Q5VU32|Q5VXX4|Q70CQ6|Q96JG1	Missense_Mutation	SNP	ENST00000297267.9	37	c.2045G>A	CCDS47512.1	.	.	.	.	.	.	.	.	.	.	G	13.49	2.251546	0.39797	.	.	ENSG00000164694	ENST00000297267;ENST00000340366	T;T	0.09445	2.98;3.86	4.87	0.863	0.19062	.	0.929336	0.09006	N	0.862294	T	0.02455	0.0075	L	0.34521	1.04	0.09310	N	1	B;B	0.13594	0.008;0.004	B;B	0.13407	0.009;0.002	T	0.45308	-0.9270	10	0.46703	T	0.11	-2.4532	4.2237	0.10570	0.2908:0.1701:0.5391:0.0	.	619;682	Q4ZHG4-2;Q4ZHG4	.;FNDC1_HUMAN	H	682;619	ENSP00000297267:R682H;ENSP00000342460:R619H	ENSP00000297267:R682H	R	+	2	0	FNDC1	159573579	0.029000	0.19370	0.000000	0.03702	0.070000	0.16714	2.496000	0.45346	0.488000	0.27723	-0.122000	0.15005	CGC		0.716	FNDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042897.3	NM_032532		3	34	0	0	0	1	0	3	34					A	159653589	G	A	159653589	3	1	283	1	0	0	0	0	1	0	0	0	5968	1087	38	1	2087	1	FNDC1	6	159653589	Missense_Mutation	SNP	G	TCGA-J4-AATZ-01A-11D-A41K-08	73328736	159653589	11461478	21	13024											
EPB41L4B	54566	broad.mit.edu	37	chr9	111976095	111976095	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggcaggtgttcctggactcAgttctacaaagcagccagga	11	8	12	10	0	2	0	1	0	1	0	3	2	3	2	2	4	3	4	2	4	2	3			TCGA-J4-AATZ-01A-11D-A41K-08	TCGA-J4-AATZ-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e172e5-0c3a-46a6-9a66-78f0c77d8f7f	5d6e5f5b-51e4-47f3-835d-ea897c775d3a	g.chr9:111976095A>G	ENST00000374566.3	-	17	2154	c.1637T>C	c.(1636-1638)cTg>cCg	p.L546P		NM_019114.3	NP_061987.3	Q9H329	E41LB_HUMAN	erythrocyte membrane protein band 4.1 like 4B	546					actomyosin structure organization (GO:0031032)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)	structural constituent of cytoskeleton (GO:0005200)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TCCTGGACTCAGTTCTACAAA	0.527																																						ENST00000374566.3																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						c.(1636-1638)cTg>cCg		erythrocyte membrane protein band 4.1 like 4B							55	54	54					9																	111976095		1894	4122	6016	SO:0001583	missense	54566					cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|structural constituent of cytoskeleton	g.chr9:111976095A>G	AB032179	CCDS43859.1, CCDS43860.1	9q22.1-q22.3	2008-02-05			ENSG00000095203	ENSG00000095203			19818	protein-coding gene	gene with protein product		610340				10783258	Standard	NM_018424		Approved	EHM2	uc004bdz.1	Q9H329	OTTHUMG00000020470	ENST00000374566.3:c.1637T>C	9.37:g.111976095A>G	ENSP00000363694:p.Leu546Pro						p.L546P	NM_019114.3	NP_061987.3	Q9H329	E41LB_HUMAN			17	2154	-			546					Q5T4G5|Q5T4G6|Q9H328|Q9P2V3	Missense_Mutation	SNP	ENST00000374566.3	37	c.1637T>C	CCDS43859.1	.	.	.	.	.	.	.	.	.	.	A	15.63	2.890989	0.52014	.	.	ENSG00000095203	ENST00000262536;ENST00000374566	D	0.88509	-2.39	5.47	4.31	0.51392	.	0.317346	0.17675	N	0.165824	T	0.82240	0.4994	L	0.27053	0.805	0.80722	D	1	D	0.56521	0.976	P	0.44597	0.454	T	0.78094	-0.2338	10	0.34782	T	0.22	.	9.5814	0.39490	0.8234:0.1766:0.0:0.0	.	546	Q9H329	E41LB_HUMAN	P	231;546	ENSP00000363694:L546P	ENSP00000262536:L231P	L	-	2	0	EPB41L4B	111015916	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	5.687000	0.68219	0.899000	0.36444	-0.501000	0.04562	CTG		0.527	EPB41L4B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053592.1	NM_018424		11	31	0	0	0	1	0	11	31					G	111976095	A	G	111976095	3	3	283	1	0	0	0	0	1	0	0	0	5156	188	7	4	1105	4	EPB41L4B	9	111976095	Missense_Mutation	SNP	A	TCGA-J4-AATZ-01A-11D-A41K-08		111976095	29237336	22	13025											
ZFP37	7539	broad.mit.edu	37	chr9	115805369	115805369	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agggactttcacctgtatgaGttctcatatggtaagtaaga	12	13	10	6	0	2	2	2	1	1	1	3	3	2	3	1	2	0	4	1	2	4	6			TCGA-J4-AATZ-01A-11D-A41K-08	TCGA-J4-AATZ-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e172e5-0c3a-46a6-9a66-78f0c77d8f7f	5d6e5f5b-51e4-47f3-835d-ea897c775d3a	g.chr9:115805369G>C	ENST00000374227.3	-	4	1556	c.1529C>G	c.(1528-1530)aCt>aGt	p.T510S	ZFP37_ENST00000555206.1_Missense_Mutation_p.T511S|ZFP37_ENST00000553380.1_Missense_Mutation_p.T525S	NM_001282515.1|NM_001282518.1	NP_001269444.1|NP_001269447.1	Q9Y6Q3	ZFP37_HUMAN	ZFP37 zinc finger protein	510					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	38						ACCTGTATGAGTTCTCATATG	0.358																																						ENST00000374227.3																			0				NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	38						c.(1528-1530)aCt>aGt		ZFP37 zinc finger protein							74	74	74					9																	115805369		2203	4300	6503	SO:0001583	missense	7539					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr9:115805369G>C	AF022158	CCDS6787.1, CCDS65109.1, CCDS65110.1	9q32	2013-01-08	2012-11-27		ENSG00000136866	ENSG00000136866		"Zinc fingers, C2H2-type", "-"	12863	protein-coding gene	gene with protein product		602951	"zinc finger protein homologous to Zfp37 in mouse", "zinc finger protein 37 homolog (mouse)"				Standard	NM_001282515		Approved	ZNF906	uc004bgm.1	Q9Y6Q3	OTTHUMG00000021019	ENST00000374227.3:c.1529C>G	9.37:g.115805369G>C	ENSP00000363344:p.Thr510Ser					ZFP37_ENST00000555206.1_Missense_Mutation_p.T511S|ZFP37_ENST00000553380.1_Missense_Mutation_p.T525S	p.T510S			Q9Y6Q3	ZFP37_HUMAN			4	1556	-			510					A0AVJ9|B4DVX4|G3V3L7|Q5T7Q4	Missense_Mutation	SNP	ENST00000374227.3	37	c.1529C>G	CCDS6787.1	.	.	.	.	.	.	.	.	.	.	G	10.08	1.251881	0.22880	.	.	ENSG00000136866	ENST00000374227;ENST00000555206;ENST00000553380	T;T;T	0.07567	3.18;3.18;3.18	4.32	4.32	0.51571	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.45606	D	0.000350	T	0.06554	0.0168	L	0.29908	0.895	0.23277	N	0.997993	P;P;B	0.40107	0.703;0.703;0.164	B;B;B	0.36030	0.216;0.216;0.147	T	0.30592	-0.9973	10	0.51188	T	0.08	-3.5427	10.6022	0.45373	0.0:0.1948:0.8052:0.0	.	511;525;510	G3V3L7;Q9Y6Q3-2;Q9Y6Q3	.;.;ZFP37_HUMAN	S	510;511;525	ENSP00000363344:T510S;ENSP00000451310:T511S;ENSP00000452552:T525S	ENSP00000363344:T510S	T	-	2	0	ZFP37	114845190	0.000000	0.05858	1.000000	0.80357	0.997000	0.91878	0.569000	0.23638	2.681000	0.91329	0.655000	0.94253	ACT		0.358	ZFP37-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000055439.1	NM_003408		40	50	0	0	0	1	0	40	50					C	115805369	G	C	115805369	3	2	283	1	0	0	0	0	1	0	0	0	17645	1029	36	5	367	5	ZFP37	9	115805369	Missense_Mutation	SNP	G	TCGA-J4-AATZ-01A-11D-A41K-08	3829274	115805369	25408062	23	13026											
SEMA4G	57715	broad.mit.edu	37	chr10	102732921	102732921	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcacttcaagggccaagccCagaactactcaacactgctg	12	6	9	14	0	2	1	2	0	0	1	2	1	2	1	2	2	5	2	2	2	5	2			TCGA-J4-AATZ-01A-11D-A41K-08	TCGA-J4-AATZ-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e172e5-0c3a-46a6-9a66-78f0c77d8f7f	5d6e5f5b-51e4-47f3-835d-ea897c775d3a	g.chr10:102732921C>G	ENST00000370250.4	+	2	533	c.160C>G	c.(160-162)Cag>Gag	p.Q54E	SEMA4G_ENST00000210633.3_Missense_Mutation_p.Q54E|MIR608_ENST00000384820.1_RNA|SEMA4G_ENST00000519756.1_3'UTR|SEMA4G_ENST00000517724.1_Missense_Mutation_p.Q54E	NM_017893.3	NP_060363.2	Q9NTN9	SEM4G_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4G	54	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			breast(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		Colorectal(252;0.234)		Epithelial(162;3.71e-09)|all cancers(201;2.1e-07)		GGGCCAAGCCCAGAACTACTC	0.627																																						ENST00000210633.3																			0				breast(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						c.(160-162)Cag>Gag		sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4G							42	43	43					10																	102732921		2203	4300	6503	SO:0001583	missense	57715				cell differentiation|nervous system development	integral to membrane	receptor activity	g.chr10:102732921C>G	AB046839	CCDS7501.1, CCDS55724.1	10q24.31	2013-01-11			ENSG00000095539	ENSG00000095539		"Semaphorins", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	10735	protein-coding gene	gene with protein product							Standard	NM_017893		Approved	FLJ20590, KIAA1619	uc001krw.2	Q9NTN9	OTTHUMG00000018922	ENST00000370250.4:c.160C>G	10.37:g.102732921C>G	ENSP00000359270:p.Gln54Glu					SEMA4G_ENST00000519756.1_3'UTR|SEMA4G_ENST00000517724.1_Missense_Mutation_p.Q54E|SEMA4G_ENST00000370250.4_Missense_Mutation_p.Q54E	p.Q54E			Q9NTN9	SEM4G_HUMAN		Epithelial(162;3.71e-09)|all cancers(201;2.1e-07)	2	238	+		Colorectal(252;0.234)	54			Sema.		A1A5C6|A6NJY8|Q58EY1|Q9HCF3	Missense_Mutation	SNP	ENST00000370250.4	37	c.160C>G		.	.	.	.	.	.	.	.	.	.	C	12.39	1.924396	0.34002	.	.	ENSG00000095539	ENST00000519649;ENST00000518124;ENST00000457585;ENST00000370250;ENST00000517724;ENST00000210633	T;T;T;T;T	0.28069	1.63;1.63;1.63;1.63;1.63	5.12	5.12	0.69794	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (2);	0.399676	0.26000	N	0.026946	T	0.32675	0.0837	M	0.69358	2.11	0.32689	N	0.514493	B;P;B	0.34546	0.121;0.456;0.125	B;B;B	0.29077	0.025;0.09;0.098	T	0.46803	-0.9165	10	0.30854	T	0.27	.	17.1147	0.86685	0.0:1.0:0.0:0.0	.	54;54;54	Q9NTN9;A1A5C6;Q9NTN9-2	SEM4G_HUMAN;.;.	E	54	ENSP00000428896:Q54E;ENSP00000430103:Q54E;ENSP00000359270:Q54E;ENSP00000430175:Q54E;ENSP00000210633:Q54E	ENSP00000210633:Q54E	Q	+	1	0	SEMA4G	102722911	0.001000	0.12720	1.000000	0.80357	0.664000	0.39144	1.037000	0.30241	2.353000	0.79882	0.585000	0.79938	CAG		0.627	SEMA4G-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000049920.2			9	10	0	0	0	1	0	9	10					G	102732921	C	G	102732921	3	3	283	1	0	0	0	0	1	0	0	0	14036	595	21	5	166	5	SEMA4G	10	102732921	Missense_Mutation	SNP	C	TCGA-J4-AATZ-01A-11D-A41K-08		102732921	32801826	24	13027											
SEMA4G	57715	broad.mit.edu	37	chr10	102732996	102732996	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cccgaggtgccctgttctctCtcagtgccaacgacatagga	8	9	10	14	2	2	0	1	0	2	0	4	3	2	1	3	2	3	1	3	2	2	2			TCGA-J4-AATZ-01A-11D-A41K-08	TCGA-J4-AATZ-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e172e5-0c3a-46a6-9a66-78f0c77d8f7f	5d6e5f5b-51e4-47f3-835d-ea897c775d3a	g.chr10:102732996C>T	ENST00000370250.4	+	2	608	c.235C>T	c.(235-237)Ctc>Ttc	p.L79F	SEMA4G_ENST00000210633.3_Missense_Mutation_p.L79F|MIR608_ENST00000384820.1_RNA|SEMA4G_ENST00000519756.1_3'UTR|SEMA4G_ENST00000517724.1_Missense_Mutation_p.L79F	NM_017893.3	NP_060363.2	Q9NTN9	SEM4G_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4G	79	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			breast(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		Colorectal(252;0.234)		Epithelial(162;3.71e-09)|all cancers(201;2.1e-07)		CCTGTTCTCTCTCAGTGCCAA	0.607																																						ENST00000210633.3																			0				breast(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						c.(235-237)Ctc>Ttc		sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4G							40	42	41					10																	102732996		2203	4300	6503	SO:0001583	missense	57715				cell differentiation|nervous system development	integral to membrane	receptor activity	g.chr10:102732996C>T	AB046839	CCDS7501.1, CCDS55724.1	10q24.31	2013-01-11			ENSG00000095539	ENSG00000095539		"Semaphorins", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	10735	protein-coding gene	gene with protein product							Standard	NM_017893		Approved	FLJ20590, KIAA1619	uc001krw.2	Q9NTN9	OTTHUMG00000018922	ENST00000370250.4:c.235C>T	10.37:g.102732996C>T	ENSP00000359270:p.Leu79Phe					SEMA4G_ENST00000519756.1_3'UTR|SEMA4G_ENST00000517724.1_Missense_Mutation_p.L79F|SEMA4G_ENST00000370250.4_Missense_Mutation_p.L79F	p.L79F			Q9NTN9	SEM4G_HUMAN		Epithelial(162;3.71e-09)|all cancers(201;2.1e-07)	2	313	+		Colorectal(252;0.234)	79			Sema.		A1A5C6|A6NJY8|Q58EY1|Q9HCF3	Missense_Mutation	SNP	ENST00000370250.4	37	c.235C>T		.	.	.	.	.	.	.	.	.	.	C	20.8	4.051743	0.75960	.	.	ENSG00000095539	ENST00000519649;ENST00000518124;ENST00000457585;ENST00000370250;ENST00000517724;ENST00000210633	T;T;T;T;T	0.21932	1.98;1.98;1.98;1.98;1.98	5.18	5.18	0.71444	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.000000	0.64402	D	0.000001	T	0.35219	0.0924	M	0.75150	2.29	0.58432	D	0.999995	D;P;D	0.54772	0.965;0.739;0.968	P;P;P	0.52881	0.712;0.593;0.654	T	0.07947	-1.0746	10	0.42905	T	0.14	.	10.8591	0.46817	0.0:0.9124:0.0:0.0876	.	79;79;79	Q9NTN9;A1A5C6;Q9NTN9-2	SEM4G_HUMAN;.;.	F	79	ENSP00000428896:L79F;ENSP00000430103:L79F;ENSP00000359270:L79F;ENSP00000430175:L79F;ENSP00000210633:L79F	ENSP00000210633:L79F	L	+	1	0	SEMA4G	102722986	1.000000	0.71417	1.000000	0.80357	0.926000	0.56050	2.574000	0.46016	2.389000	0.81357	0.585000	0.79938	CTC		0.607	SEMA4G-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000049920.2			6	15	0	0	0	1	0	6	15					T	102732996	C	T	102732996	3	4	283	1	0	0	0	0	1	0	0	0	14036	913	32	3	241	3	SEMA4G	10	102732996	Missense_Mutation	SNP	C	TCGA-J4-AATZ-01A-11D-A41K-08	75	102732996	32801751	25	13028											
CARS	833	broad.mit.edu	37	chr11	3039171	3039171	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cgcgaaggatatctttcacaTttaagaaaaactcctgaagt	15	11	7	8	2	2	2	1	1	1	1	3	4	3	3	1	1	1	0	1	1	6	4			TCGA-J4-AATZ-01A-11D-A41K-08	TCGA-J4-AATZ-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e172e5-0c3a-46a6-9a66-78f0c77d8f7f	5d6e5f5b-51e4-47f3-835d-ea897c775d3a	g.chr11:3039171T>C	ENST00000397111.5	-	14	1639	c.1394A>G	c.(1393-1395)aAt>aGt	p.N465S	CARS_ENST00000278224.9_Missense_Mutation_p.N465S|CARS_ENST00000380525.4_Missense_Mutation_p.N548S|CARS_ENST00000401769.3_Missense_Mutation_p.N478S|CARS_ENST00000397114.3_Missense_Mutation_p.N455S			P49589	SYCC_HUMAN	cysteinyl-tRNA synthetase	465					cysteinyl-tRNA aminoacylation (GO:0006423)|gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|cysteine-tRNA ligase activity (GO:0004817)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|tRNA binding (GO:0000049)		CARS/ALK(5)	central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)	31		all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)		BRCA - Breast invasive adenocarcinoma(625;0.00317)|LUSC - Lung squamous cell carcinoma(625;0.218)	L-Cysteine(DB00151)	ATCTTTCACATTTAAGAAAAA	0.378			T	ALK	ALCL																																Ovarian(61;932 1157 5961 20446 52152)	ENST00000397114.3				Dom	yes		11	11p15.5	833	T	cysteinyl-tRNA synthetase			L	ALK		ALCL	CARS/ALK(5)	0				central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)	31						c.(1363-1365)aAt>aGt		cysteinyl-tRNA synthetase	L-Cysteine(DB00151)						115	108	110					11																	3039171		2202	4298	6500	SO:0001583	missense	833				cysteinyl-tRNA aminoacylation	cytoplasm|cytosol	ATP binding|cysteine-tRNA ligase activity|metal ion binding|protein homodimerization activity|tRNA binding	g.chr11:3039171T>C	AF288207	CCDS7742.1, CCDS41600.1, CCDS41602.1	11p15.5	2011-07-01			ENSG00000110619	ENSG00000110619	6.1.1.16	"Aminoacyl tRNA synthetases / Class I"	1493	protein-coding gene	gene with protein product	"cysteine tRNA ligase 1, cytoplasmic"	123859				8468064	Standard	NM_139273		Approved	CARS1	uc001lxf.3	P49589	OTTHUMG00000010927	ENST00000397111.5:c.1394A>G	11.37:g.3039171T>C	ENSP00000380300:p.Asn465Ser					CARS_ENST00000380525.4_Missense_Mutation_p.N548S|CARS_ENST00000278224.9_Missense_Mutation_p.N465S|CARS_ENST00000401769.3_Missense_Mutation_p.N478S|CARS_ENST00000397111.5_Missense_Mutation_p.N465S	p.N455S			P49589	SYCC_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00317)|LUSC - Lung squamous cell carcinoma(625;0.218)	15	1740	-		all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)	465					Q53XI8|Q5HYE4|Q9HD24|Q9HD25	Missense_Mutation	SNP	ENST00000397111.5	37	c.1364A>G	CCDS7742.1	.	.	.	.	.	.	.	.	.	.	T	16.00	2.999369	0.54147	.	.	ENSG00000110619	ENST00000380525;ENST00000397111;ENST00000278224;ENST00000397114;ENST00000401769	T;T;T;T;T	0.46819	0.86;0.87;0.86;0.87;0.86	4.24	3.09	0.35607	.	0.050114	0.85682	D	0.000000	T	0.54759	0.1878	M	0.75085	2.285	0.58432	D	0.999999	B;B;B;P;B;P	0.44690	0.146;0.065;0.415;0.841;0.035;0.754	B;B;B;P;B;B	0.49561	0.045;0.067;0.314;0.615;0.091;0.41	T	0.52793	-0.8528	10	0.34782	T	0.22	-27.5365	11.0222	0.47724	0.0:0.0:0.1558:0.8442	.	478;548;465;465;548;455	B4DKY1;B4DPV7;P49589;P49589-2;Q5HYE4;A8MVQ3	.;.;SYCC_HUMAN;.;.;.	S	548;465;465;455;478	ENSP00000369897:N548S;ENSP00000380300:N465S;ENSP00000278224:N465S;ENSP00000380303:N455S;ENSP00000384069:N478S	ENSP00000278224:N465S	N	-	2	0	CARS	2995747	1.000000	0.71417	0.433000	0.26760	0.765000	0.43378	5.513000	0.67037	0.658000	0.30925	0.459000	0.35465	AAT		0.378	CARS-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000030117.4	NM_001751		26	32	0	0	0	1	0	26	32					C	3039171	T	C	3039171	3	2	283	1	0	0	0	0	1	0	0	0	2657	1493	52	4	896	4	CARS	11	3039171	Missense_Mutation	SNP	T	TCGA-J4-AATZ-01A-11D-A41K-08		3039171	131967345	26	13029											
FAT3	120114	broad.mit.edu	37	chr11	92600067	92600067	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggatgacagctacgtggagcGgcgccgggcgcccctctact	6	6	15	14	5	1	1	0	1	1	0	1	3	1	3	3	4	4	1	3	4	2	2			TCGA-J4-AATZ-01A-11D-A41K-08	TCGA-J4-AATZ-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e172e5-0c3a-46a6-9a66-78f0c77d8f7f	5d6e5f5b-51e4-47f3-835d-ea897c775d3a	g.chr11:92600067G>A	ENST00000298047.6	+	21	11836	c.11819G>A	c.(11818-11820)cGg>cAg	p.R3940Q	FAT3_ENST00000533797.1_Missense_Mutation_p.R275Q|FAT3_ENST00000409404.2_Missense_Mutation_p.R3940Q|FAT3_ENST00000525166.1_Missense_Mutation_p.R3790Q			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	3940	Laminin G-like. {ECO:0000255|PROSITE- ProRule:PRU00122}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				TACGTGGAGCGGCGCCGGGCG	0.622										TCGA Ovarian(4;0.039)																												ENST00000298047.6																			0				NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85						c.(11818-11820)cGg>cAg		FAT atypical cadherin 3							31	35	34					11																	92600067		1941	4120	6061	SO:0001583	missense	120114				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr11:92600067G>A	AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"Cadherins / Cadherin-related"	23112	protein-coding gene	gene with protein product	"cadherin-related family member 10"	612483	"FAT tumor suppressor homolog 3 (Drosophila)"			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.11819G>A	11.37:g.92600067G>A	ENSP00000298047:p.Arg3940Gln	TCGA Ovarian(4;0.039)				FAT3_ENST00000525166.1_Missense_Mutation_p.R3790Q|FAT3_ENST00000409404.2_Missense_Mutation_p.R3940Q|FAT3_ENST00000533797.1_Missense_Mutation_p.R275Q	p.R3940Q			Q8TDW7	FAT3_HUMAN			21	11836	+		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)	3940			Laminin G-like.		B5MDB0|Q96AU6	Missense_Mutation	SNP	ENST00000298047.6	37	c.11819G>A		.	.	.	.	.	.	.	.	.	.	G	29.4	5.001270	0.93227	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000525166;ENST00000533797	T;T;T;T	0.78003	-1.14;-1.14;-1.14;-1.14	5.74	5.74	0.90152	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	.	.	.	.	D	0.82365	0.5021	L	0.31752	0.955	0.80722	D	1	D;B	0.89917	1.0;0.175	D;B	0.70227	0.968;0.053	T	0.79885	-0.1614	9	0.32370	T	0.25	.	19.9226	0.97093	0.0:0.0:1.0:0.0	.	3940;3940	Q8TDW7-3;Q8TDW7	.;FAT3_HUMAN	Q	3940;3940;3790;275	ENSP00000298047:R3940Q;ENSP00000387040:R3940Q;ENSP00000432586:R3790Q;ENSP00000436399:R275Q	ENSP00000298047:R3940Q	R	+	2	0	FAT3	92239715	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.190000	0.77755	2.720000	0.93068	0.561000	0.74099	CGG		0.622	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781		3	23	0	0	0	1	0	3	23					A	92600067	G	A	92600067	3	1	283	1	0	0	0	0	1	0	0	0	5691	1116	39	2	11901	2	FAT3	11	92600067	Missense_Mutation	SNP	G	TCGA-J4-AATZ-01A-11D-A41K-08	89560896	92600067	42406449	27	13030											
MVK	4598	broad.mit.edu	37	chr12	110019342	110019342	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	caaacccgctgaaggacgggGattgcgtcaacaggtaacca	13	5	12	11	3	1	1	1	1	0	0	1	3	1	3	2	4	4	2	2	4	4	2	rs104895310		TCGA-J4-AATZ-01A-11D-A41K-08	TCGA-J4-AATZ-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e172e5-0c3a-46a6-9a66-78f0c77d8f7f	5d6e5f5b-51e4-47f3-835d-ea897c775d3a	g.chr12:110019342G>C	ENST00000228510.3	+	5	590	c.514G>C	c.(514-516)Gat>Cat	p.D172H	MVK_ENST00000392727.3_Intron|MVK_ENST00000539696.1_Intron|MVK_ENST00000539575.1_Intron|MVK_ENST00000541384.1_Intron|MVK_ENST00000535044.1_Intron	NM_000431.2|NM_001114185.1	NP_000422.1|NP_001107657.1	Q03426	KIME_HUMAN	mevalonate kinase	172					cholesterol biosynthetic process (GO:0006695)|isopentenyl diphosphate biosynthetic process, mevalonate pathway (GO:0019287)|isoprenoid biosynthetic process (GO:0008299)|negative regulation of inflammatory response (GO:0050728)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|mevalonate kinase activity (GO:0004496)			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	8						GAAGGACGGGGATTGCGTCAA	0.652																																						ENST00000228510.3																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	8						c.(514-516)Gat>Cat		mevalonate kinase							87	84	85					12																	110019342		2203	4300	6503	SO:0001583	missense	4598				cholesterol biosynthetic process|isoprenoid biosynthetic process	cytosol|peroxisome	ATP binding|identical protein binding|mevalonate kinase activity	g.chr12:110019342G>C	M88468	CCDS9132.1, CCDS73522.1	12q24	2014-09-17	2008-01-30		ENSG00000110921	ENSG00000110921	2.7.1.36		7530	protein-coding gene	gene with protein product	"LH receptor mRNA-binding protein", "mevalonic aciduria"	251170	"mevalonate kinase (mevalonic aciduria)"			1377680	Standard	XM_005253883		Approved	LRBP, MK	uc001toy.4	Q03426	OTTHUMG00000169256	ENST00000228510.3:c.514G>C	12.37:g.110019342G>C	ENSP00000228510:p.Asp172His					MVK_ENST00000392727.3_Intron|MVK_ENST00000539696.1_Intron|MVK_ENST00000535044.1_Intron|MVK_ENST00000541384.1_Intron|MVK_ENST00000539575.1_Intron	p.D172H	NM_000431.2|NM_001114185.1	NP_000422.1|NP_001107657.1	Q03426	KIME_HUMAN			5	590	+			172						Missense_Mutation	SNP	ENST00000228510.3	37	c.514G>C	CCDS9132.1	.	.	.	.	.	.	.	.	.	.	G	11.63	1.695922	0.30052	.	.	ENSG00000110921	ENST00000546277;ENST00000228510	D;D	0.91945	-2.94;-2.94	4.84	3.93	0.45458	Ribosomal protein S5 domain 2-type fold (1);GHMP kinase (1);Ribosomal protein S5 domain 2-type fold, subgroup (1);	1.036630	0.07545	N	0.914508	D	0.89245	0.6660	L	0.42245	1.32	0.25629	N	0.986322	B	0.29627	0.252	B	0.29598	0.104	T	0.79203	-0.1900	10	0.44086	T	0.13	-2.704	11.3064	0.49338	0.0:0.1847:0.8153:0.0	.	172	Q03426	KIME_HUMAN	H	172	ENSP00000438153:D172H;ENSP00000228510:D172H	ENSP00000228510:D172H	D	+	1	0	MVK	108503725	0.037000	0.19845	0.001000	0.08648	0.003000	0.03518	1.313000	0.33585	1.135000	0.42183	0.650000	0.86243	GAT		0.652	MVK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403143.1	NM_000431		7	15	0	0	0	1	0	7	15					C	110019342	G	C	110019342	3	2	283	1	0	0	0	0	1	0	0	0	9995	1174	41	5	528	5	MVK	12	110019342	Missense_Mutation	SNP	G	TCGA-J4-AATZ-01A-11D-A41K-08		110019342	23832553	28	13031											
KSR2	283455	broad.mit.edu	37	chr12	117977676	117977676	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgctggagtctggctggtaaGggacagggatgtggtcctgc	6	10	18	7	0	1	0	0	0	1	0	2	3	2	3	1	6	2	3	1	6	1	1			TCGA-J4-AATZ-01A-11D-A41K-08	TCGA-J4-AATZ-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e172e5-0c3a-46a6-9a66-78f0c77d8f7f	5d6e5f5b-51e4-47f3-835d-ea897c775d3a	g.chr12:117977676G>C	ENST00000339824.5	-	10	2262	c.1535C>G	c.(1534-1536)cCt>cGt	p.P512R	KSR2_ENST00000302438.5_Missense_Mutation_p.P209R|KSR2_ENST00000425217.1_Missense_Mutation_p.P483R|KSR2_ENST00000545002.1_5'UTR			Q6VAB6	KSR2_HUMAN	kinase suppressor of ras 2	512	Pro-rich.				intracellular signal transduction (GO:0035556)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TGGCTGGTAAGGGACAGGGAT	0.637																																						ENST00000425217.1																			0				NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						c.(1447-1449)cCt>cGt		kinase suppressor of ras 2							91	112	105					12																	117977676		2160	4261	6421	SO:0001583	missense	283455				intracellular signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity	g.chr12:117977676G>C	AY345972	CCDS61250.1	12q24.22-q24.23	2014-08-12			ENSG00000171435	ENSG00000171435			18610	protein-coding gene	gene with protein product		610737				12471243	Standard	NM_173598		Approved	FLJ25965	uc001two.2	Q6VAB6	OTTHUMG00000169020	ENST00000339824.5:c.1535C>G	12.37:g.117977676G>C	ENSP00000339952:p.Pro512Arg					KSR2_ENST00000339824.5_Missense_Mutation_p.P512R|KSR2_ENST00000302438.5_Missense_Mutation_p.P209R|KSR2_ENST00000545002.1_5'UTR	p.P483R	NM_173598.4	NP_775869.3	Q6VAB6	KSR2_HUMAN			10	1502	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		512					A0PJT2|Q3B828|Q8N775	Missense_Mutation	SNP	ENST00000339824.5	37	c.1448C>G		.	.	.	.	.	.	.	.	.	.	G	24.0	4.478921	0.84747	.	.	ENSG00000171435	ENST00000425217;ENST00000339824;ENST00000302438;ENST00000542378	T;T;D	0.87179	-1.36;-1.37;-2.22	4.89	4.89	0.63831	.	0.000000	0.85682	D	0.000000	D	0.86117	0.5856	L	0.39898	1.24	0.80722	D	1	D	0.57257	0.979	P	0.48840	0.592	D	0.85183	0.1005	10	0.33141	T	0.24	.	18.2499	0.89998	0.0:0.0:1.0:0.0	.	512	Q6VAB6	KSR2_HUMAN	R	483;512;209;184	ENSP00000389715:P483R;ENSP00000339952:P512R;ENSP00000305466:P209R	ENSP00000305466:P209R	P	-	2	0	KSR2	116462059	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.564000	0.98151	2.509000	0.84616	0.655000	0.94253	CCT		0.637	KSR2-001	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000401987.2	NM_173598		22	20	0	0	0	1	0	22	20					C	117977676	G	C	117977676	3	2	283	1	0	0	0	0	1	0	0	0	8582	1000	35	5	1361	5	KSR2	12	117977676	Missense_Mutation	SNP	G	TCGA-J4-AATZ-01A-11D-A41K-08	7958334	117977676	15874219	29	13032											
UBC	7316	broad.mit.edu	37	chr12	125397652	125397652	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atcccacctctgagacggagTaccaggtgcaaggtggactc	10	7	12	12	1	1	1	0	1	1	1	3	4	2	3	3	4	2	2	3	4	2	1	rs533073686	byFrequency	TCGA-J4-AATZ-01A-11D-A41K-08	TCGA-J4-AATZ-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e172e5-0c3a-46a6-9a66-78f0c77d8f7f	5d6e5f5b-51e4-47f3-835d-ea897c775d3a	g.chr12:125397652T>C	ENST00000536769.1	-	1	2242	c.666A>G	c.(664-666)gtA>gtG	p.V222V	UBC_ENST00000339647.5_Silent_p.V222V|UBC_ENST00000538617.1_Intron|MIR5188_ENST00000583467.1_RNA|UBC_ENST00000546120.1_Silent_p.V146V|UBC_ENST00000536661.1_5'Flank			P0CG48	UBC_HUMAN	ubiquitin C	222	Ubiquitin-like 3. {ECO:0000255|PROSITE- ProRule:PRU00214}.				activation of MAPK activity (GO:0000187)|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|carbohydrate metabolic process (GO:0005975)|cellular response to hypoxia (GO:0071456)|cytokine-mediated signaling pathway (GO:0019221)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|endosomal transport (GO:0016197)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|intracellular transport of virus (GO:0075733)|ion transmembrane transport (GO:0034220)|JNK cascade (GO:0007254)|membrane organization (GO:0061024)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of type I interferon production (GO:0032480)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of apoptotic process (GO:0043065)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of type I interferon production (GO:0032479)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|stress-activated MAPK cascade (GO:0051403)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|transmembrane transport (GO:0055085)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral protein processing (GO:0019082)|virion assembly (GO:0019068)	cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|protease binding (GO:0002020)			breast(3)|endometrium(4)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308)		TGAGACGGAGTACCAGGTGCA	0.512													-|||	5	0.000998403	0	0	5008	,	,		27834	0.004		0	False		,,,				2504	0.001					ENST00000536769.1																			0				breast(3)|endometrium(4)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(664-666)gtA>gtG		ubiquitin C							228	202	211					12																	125397652		2203	4299	6502	SO:0001819	synonymous_variant	7316				activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|viral reproduction	cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane	protein binding	g.chr12:125397652T>C		CCDS9260.1	12q24.3	2008-09-08			ENSG00000150991	ENSG00000150991			12468	protein-coding gene	gene with protein product	"polyubiquitin-C"	191340				1315303, 11872750	Standard	NM_021009		Approved		uc001ugs.4	P0CG48		ENST00000536769.1:c.666A>G	12.37:g.125397652T>C						UBC_ENST00000546120.1_Silent_p.V146V|UBC_ENST00000538617.1_Intron|UBC_ENST00000339647.5_Silent_p.V222V	p.V222V			P0CG48	UBC_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308)	1	2242	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		222			Ubiquitin-like 3.		P02248|P02249|P02250|P62988|Q29120|Q6LBL4|Q6LDU5|Q8WYN8|Q91887|Q91888|Q9BWD6|Q9BX98|Q9UEF2|Q9UEG1|Q9UEK8|Q9UPK7	Silent	SNP	ENST00000536769.1	37	c.666A>G	CCDS9260.1																																																																																				0.512	UBC-007	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400177.1	NM_021009		4	149	0	0	0	1	0	4	149					C	125397652	T	C	125397652	2	2	283	1	0	0	0	0	0	0	0	1	16839	1625	57	4		4	UBC	12	125397652	Silent	SNP	T	TCGA-J4-AATZ-01A-11D-A41K-08	7419976	125397652	8454243	30	13033											
KIAA0391	9692	broad.mit.edu	37	chr14	35592592	35592592	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaccagcagaggttgttttcTcttaaaacaatgtctccaca	13	12	6	10	0	2	1	0	0	2	1	4	1	2	1	2	1	3	3	2	1	4	4			TCGA-J4-AATZ-01A-11D-A41K-08	TCGA-J4-AATZ-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e172e5-0c3a-46a6-9a66-78f0c77d8f7f	5d6e5f5b-51e4-47f3-835d-ea897c775d3a	g.chr14:35592592T>C	ENST00000557565.1	+	2	522	c.141T>C	c.(139-141)tcT>tcC	p.S47S	KIAA0391_ENST00000604948.1_Intron|PPP2R3C_ENST00000555644.1_5'Flank|KIAA0391_ENST00000605870.1_Intron|KIAA0391_ENST00000321130.10_Silent_p.S47S|KIAA0391_ENST00000603544.1_Silent_p.S47S|KIAA0391_ENST00000250377.7_5'UTR|KIAA0391_ENST00000603588.1_Intron|KIAA0391_ENST00000534898.4_Silent_p.S47S|PPP2R3C_ENST00000261475.5_5'Flank	NM_001282234.1	NP_001269163.1	O15091	MRRP3_HUMAN	KIAA0391	47					tRNA processing (GO:0008033)	mitochondrion (GO:0005739)				central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	14	Breast(36;0.0545)|Hepatocellular(127;0.158)|Prostate(35;0.184)		Lung(238;2.93e-05)|LUAD - Lung adenocarcinoma(48;3.86e-05)|Epithelial(34;0.0114)|all cancers(34;0.0277)	GBM - Glioblastoma multiforme(112;0.0593)		GGTTGTTTTCTCTTAAAACAA	0.473																																						ENST00000557565.1																			0				central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	14						c.(139-141)tcT>tcC		KIAA0391							63	58	60					14																	35592592		2203	4300	6503	SO:0001819	synonymous_variant	9692				tRNA processing	mitochondrion		g.chr14:35592592T>C	AB002389	CCDS32063.1, CCDS58312.1, CCDS58313.1, CCDS58314.1	14q13.2	2013-06-18			ENSG00000100890	ENSG00000100890			19958	protein-coding gene	gene with protein product	"mitochondrial RNase P subunit 3", "proteinaceous RNase P"	609947				9205841, 18984158	Standard	NM_001256678		Approved	MRPP3, PRORP	uc001wsy.2	O15091		ENST00000557565.1:c.141T>C	14.37:g.35592592T>C						KIAA0391_ENST00000605870.1_Intron|KIAA0391_ENST00000604948.1_Intron|KIAA0391_ENST00000603544.1_Silent_p.S47S|KIAA0391_ENST00000603588.1_Intron|KIAA0391_ENST00000534898.4_Silent_p.S47S|KIAA0391_ENST00000321130.10_Silent_p.S47S|KIAA0391_ENST00000250377.7_5'UTR	p.S47S			O15091	MRRP3_HUMAN	Lung(238;2.93e-05)|LUAD - Lung adenocarcinoma(48;3.86e-05)|Epithelial(34;0.0114)|all cancers(34;0.0277)	GBM - Glioblastoma multiforme(112;0.0593)	2	522	+	Breast(36;0.0545)|Hepatocellular(127;0.158)|Prostate(35;0.184)		47					B4DXD9|B4E0S8|B4E211|C4AM93|D3DS99|D3DSA1|Q86SZ4|Q86YB5|Q8N5L5	Silent	SNP	ENST00000557565.1	37	c.141T>C	CCDS32063.1																																																																																				0.473	KIAA0391-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	nonsense_mediated_decay	protein_coding	OTTHUMT00000411280.1	NM_014672		4	40	0	0	0	1	0	4	40					C	35592592	T	C	35592592	2	2	283	1	0	0	0	0	0	0	0	1	8172	1538	54	4		4	KIAA0391	14	35592592	Silent	SNP	T	TCGA-J4-AATZ-01A-11D-A41K-08		35592592	71756948	31	13034											
FSCB	84075	broad.mit.edu	37	chr14	44975667	44975667	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gggcatcttcctttgactttGtagaagaactatctggcctg	8	14	10	9	0	2	3	0	1	2	2	3	3	3	3	2	2	1	2	2	2	4	5			TCGA-J4-AATZ-01A-11D-A41K-08	TCGA-J4-AATZ-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e172e5-0c3a-46a6-9a66-78f0c77d8f7f	5d6e5f5b-51e4-47f3-835d-ea897c775d3a	g.chr14:44975667G>T	ENST00000340446.4	-	1	815	c.524C>A	c.(523-525)aCa>aAa	p.T175K	RP11-163M18.1_ENST00000555433.1_RNA|RP11-163M18.1_ENST00000557465.1_RNA|RP11-163M18.1_ENST00000556228.1_RNA	NM_032135.3	NP_115511.3	Q5H9T9	FSCB_HUMAN	fibrous sheath CABYR binding protein	175						sperm fibrous sheath (GO:0035686)|sperm principal piece (GO:0097228)	calcium ion binding (GO:0005509)			breast(4)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(47)|ovary(2)|pancreas(1)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	89				GBM - Glioblastoma multiforme(112;0.128)		CTTTGACTTTGTAGAAGAACT	0.388																																						ENST00000340446.4																			0				breast(4)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(47)|ovary(2)|pancreas(1)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	89						c.(523-525)aCa>aAa		fibrous sheath CABYR binding protein							159	164	162					14																	44975667		2203	4300	6503	SO:0001583	missense	84075					cilium		g.chr14:44975667G>T	AK124110	CCDS9679.1	14q21.3	2007-11-22	2007-11-22	2007-11-22	ENSG00000189139	ENSG00000189139			20494	protein-coding gene	gene with protein product		611779	"chromosome 14 open reading frame 155"	C14orf155		17855365	Standard	NM_032135		Approved	DKFZP434F1017	uc001wvn.3	Q5H9T9	OTTHUMG00000140262	ENST00000340446.4:c.524C>A	14.37:g.44975667G>T	ENSP00000344579:p.Thr175Lys						p.T175K	NM_032135.3	NP_115511.3	Q5H9T9	FSCB_HUMAN		GBM - Glioblastoma multiforme(112;0.128)	1	815	-			175					Q5H9U7|Q86YI2|Q9H0J3	Missense_Mutation	SNP	ENST00000340446.4	37	c.524C>A	CCDS9679.1	.	.	.	.	.	.	.	.	.	.	G	10.32	1.317048	0.23908	.	.	ENSG00000189139	ENST00000340446;ENST00000537803	T	0.22336	1.96	4.58	1.71	0.24356	.	.	.	.	.	T	0.19127	0.0459	L	0.29908	0.895	0.09310	N	1	P	0.46512	0.879	P	0.47744	0.556	T	0.10497	-1.0627	9	0.49607	T	0.09	-1.0787	6.9797	0.24696	0.3743:0.0:0.6257:0.0	.	175	Q5H9T9	FSCB_HUMAN	K	175	ENSP00000344579:T175K	ENSP00000344579:T175K	T	-	2	0	FSCB	44045417	0.000000	0.05858	0.004000	0.12327	0.054000	0.15201	-0.642000	0.05427	0.269000	0.21961	0.609000	0.83330	ACA		0.388	FSCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276788.1	NM_032135		29	136	1	0	1.16021e-09	1	1.25853e-09	29	136					T	44975667	G	T	44975667	3	4	283	1	0	0	0	0	1	0	0	0	6066	1377	48	5	1957	5	FSCB	14	44975667	Missense_Mutation	SNP	G	TCGA-J4-AATZ-01A-11D-A41K-08	9383075	44975667	62373873	32	13035											
LCMT2	9836	broad.mit.edu	37	chr15	43621659	43621659	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccctcgctactgactacgctGgcagggaatacccctgaagg	9	7	11	14	2	0	2	0	2	0	0	1	3	0	3	3	3	3	3	3	3	5	3			TCGA-J4-AATZ-01A-11D-A41K-08	TCGA-J4-AATZ-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e172e5-0c3a-46a6-9a66-78f0c77d8f7f	5d6e5f5b-51e4-47f3-835d-ea897c775d3a	g.chr15:43621659G>C	ENST00000305641.5	-	1	1144	c.1029C>G	c.(1027-1029)gcC>gcG	p.A343A	ADAL_ENST00000428046.3_5'Flank|LCMT2_ENST00000544735.1_5'UTR|ADAL_ENST00000422466.2_5'Flank|LCMT2_ENST00000567039.1_3'UTR|ADAL_ENST00000389651.4_5'Flank	NM_014793.4	NP_055608.2	O60294	TYW4_HUMAN	leucine carboxyl methyltransferase 2	343					tRNA processing (GO:0008033)		methyltransferase activity (GO:0008168)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(2)|liver(1)|lung(9)|skin(1)|urinary_tract(1)	20		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;8.1e-07)	L-Leucine(DB00149)	TGACTACGCTGGCAGGGAATA	0.552																																						ENST00000305641.5																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(2)|liver(1)|lung(9)|skin(1)|urinary_tract(1)	20						c.(1027-1029)gcC>gcG		leucine carboxyl methyltransferase 2	L-Leucine(DB00149)						45	47	47					15																	43621659		2201	4297	6498	SO:0001819	synonymous_variant	9836				tRNA processing		methyltransferase activity|protein binding	g.chr15:43621659G>C	AF265443	CCDS10094.1	15q15.3	2007-01-26			ENSG00000168806	ENSG00000168806			17558	protein-coding gene	gene with protein product	"tRNA-yW synthesizing protein 4"	611246				9628581, 17150819	Standard	NM_014793		Approved	KIAA0547, MGC9534, TYW4, PPM2	uc001zrg.3	O60294	OTTHUMG00000130705	ENST00000305641.5:c.1029C>G	15.37:g.43621659G>C						LCMT2_ENST00000567039.1_3'UTR|LCMT2_ENST00000544735.1_5'UTR	p.A343A	NM_014793.4	NP_055608.2	O60294	LCMT2_HUMAN		GBM - Glioblastoma multiforme(94;8.1e-07)	1	1144	-		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)	343					Q4JFT6|Q96B55|Q9NR10	Silent	SNP	ENST00000305641.5	37	c.1029C>G	CCDS10094.1																																																																																				0.552	LCMT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253205.1	NM_014793		9	21	0	0	0	1	0	9	21					C	43621659	G	C	43621659	2	2	283	1	0	0	0	0	0	0	0	1	8679	1335	47	5		5	LCMT2	15	43621659	Silent	SNP	G	TCGA-J4-AATZ-01A-11D-A41K-08		43621659	58909733	33	13036											
UNC13C	440279	broad.mit.edu	37	chr15	54586209	54586209	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agatgattttctgggacaaaCaattgtagaagtgaggacct	14	11	11	5	0	1	4	0	2	1	2	1	6	1	6	1	2	1	1	1	2	4	4	rs540590852		TCGA-J4-AATZ-01A-11D-A41K-08	TCGA-J4-AATZ-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e172e5-0c3a-46a6-9a66-78f0c77d8f7f	5d6e5f5b-51e4-47f3-835d-ea897c775d3a	g.chr15:54586209C>G	ENST00000260323.11	+	10	3935	c.3935C>G	c.(3934-3936)aCa>aGa	p.T1312R	UNC13C_ENST00000537900.1_Missense_Mutation_p.T1310R|UNC13C_ENST00000545554.1_Missense_Mutation_p.T1312R	NM_001080534.1	NP_001074003.1	Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	1312	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.				exocytosis (GO:0006887)|intracellular signal transduction (GO:0035556)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		CTGGGACAAACAATTGTAGAA	0.353																																						ENST00000545554.1																			0				breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121						c.(3934-3936)aCa>aGa		unc-13 homolog C (C. elegans)							232	236	235					15																	54586209		1893	4120	6013	SO:0001583	missense	440279				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding	g.chr15:54586209C>G	AK091491	CCDS45264.1	15q21.3	2012-10-02			ENSG00000137766	ENSG00000137766			23149	protein-coding gene	gene with protein product		614568					Standard	NM_001080534		Approved	Munc13-3, DKFZp547H074	uc021smr.1	Q8NB66	OTTHUMG00000172542	ENST00000260323.11:c.3935C>G	15.37:g.54586209C>G	ENSP00000260323:p.Thr1312Arg					UNC13C_ENST00000260323.11_Missense_Mutation_p.T1312R|UNC13C_ENST00000537900.1_Missense_Mutation_p.T1310R	p.T1312R			Q8NB66	UN13C_HUMAN		GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)	10	3935	+			1312			C2 1.		Q0P613|Q8ND48|Q96NP3	Missense_Mutation	SNP	ENST00000260323.11	37	c.3935C>G	CCDS45264.1	.	.	.	.	.	.	.	.	.	.	C	26.5	4.741279	0.89573	.	.	ENSG00000137766	ENST00000260323;ENST00000545554;ENST00000537900	T;T;T	0.69806	-0.43;-0.43;-0.43	5.91	5.91	0.95273	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.047508	0.85682	D	0.000000	T	0.76198	0.3954	L	0.35288	1.05	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.998;1.0	T	0.77477	-0.2573	10	0.87932	D	0	.	19.2934	0.94112	0.0:1.0:0.0:0.0	.	1312;1312	F5H090;Q8NB66	.;UN13C_HUMAN	R	1312;1312;1310	ENSP00000260323:T1312R;ENSP00000438156:T1312R;ENSP00000442569:T1310R	ENSP00000260323:T1312R	T	+	2	0	UNC13C	52373501	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.776000	0.85560	2.814000	0.96858	0.650000	0.86243	ACA		0.353	UNC13C-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000419028.3	NM_173166		4	82	0	0	0	1	0	4	82					G	54586209	C	G	54586209	3	3	283	1	0	0	0	0	1	0	0	0	16983	478	17	5	3969	5	UNC13C	15	54586209	Missense_Mutation	SNP	C	TCGA-J4-AATZ-01A-11D-A41K-08	10964550	54586209	47945183	34	13037											
HS3ST6	64711	broad.mit.edu	37	chr16	1962141	1962141	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcggcggggggcctctcgcGtcacgaagtagctgggggtc	4	7	19	11	5	2	0	1	0	1	0	4	1	2	0	1	6	2	2	1	6	2	1	rs200566367	byFrequency	TCGA-J4-AATZ-01A-11D-A41K-08	TCGA-J4-AATZ-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e172e5-0c3a-46a6-9a66-78f0c77d8f7f	5d6e5f5b-51e4-47f3-835d-ea897c775d3a	g.chr16:1962141G>A	ENST00000293937.3	-	2	478	c.479C>T	c.(478-480)aCg>aTg	p.T160M	HS3ST6_ENST00000443547.1_Missense_Mutation_p.T129M|HS3ST6_ENST00000454677.2_Missense_Mutation_p.T177M			Q96QI5	HS3S6_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 6	160					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity (GO:0008467)			endometrium(2)|lung(2)	4						GGCCTCTCGCGTCACGAAGTA	0.677													g|||	3	0.000599042	0	0	5008	,	,		11362	0		0.003	False		,,,				2504	0					ENST00000454677.2																			0				endometrium(2)|lung(2)	4						c.(529-531)aCg>aTg		heparan sulfate (glucosamine) 3-O-sulfotransferase 6		G	MET/THR	1,4385		0,1,2192	15	18	17		386	4.8	0.9	16		17	14,8576		0,14,4281	yes	missense	HS3ST6	NM_001009606.2	81	0,15,6473	AA,AG,GG		0.163,0.0228,0.1156	probably-damaging	129/312	1962141	15,12961	2193	4295	6488	SO:0001583	missense	64711							g.chr16:1962141G>A			16p13.3	2008-10-30	2003-06-11	2003-06-13	ENSG00000162040	ENSG00000162040		"Sulfotransferases, membrane-bound"	14178	protein-coding gene	gene with protein product			"heparan sulfate (glucosamine) 3-O-sulfotransferase 5"	HS3ST5		11157797	Standard	NM_001009606		Approved		uc002cnf.3	Q96QI5	OTTHUMG00000047860	ENST00000293937.3:c.479C>T	16.37:g.1962141G>A	ENSP00000293937:p.Thr160Met					HS3ST6_ENST00000443547.1_Missense_Mutation_p.T129M|HS3ST6_ENST00000293937.3_Missense_Mutation_p.T160M	p.T177M			C9JH64	C9JH64_HUMAN			2	595	-			129					Q96RX7	Missense_Mutation	SNP	ENST00000293937.3	37	c.530C>T		2	9.157509157509158E-4	0	0.0	0	0.0	0	0.0	2	0.002638522427440633	g	21.2	4.111889	0.77210	2.28E-4	0.00163	ENSG00000162040	ENST00000293937;ENST00000443547;ENST00000454677	D;D	0.82167	-1.58;-1.58	4.83	4.83	0.62350	Sulfotransferase domain (1);	0.000000	0.85682	D	0.000000	D	0.93585	0.7952	H	0.94306	3.52	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.95450	0.8533	10	0.87932	D	0	.	16.9711	0.86300	0.0:0.0:1.0:0.0	.	160	Q96QI5	HS3S6_HUMAN	M	160;129;199	ENSP00000293937:T160M;ENSP00000390354:T129M	ENSP00000293937:T160M	T	-	2	0	HS3ST6	1902142	1.000000	0.71417	0.925000	0.36789	0.621000	0.37620	7.728000	0.84847	2.248000	0.74166	0.500000	0.49745	ACG		0.677	HS3ST6-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001009606		7	17	0	0	0	1	0	7	17					A	1962141	G	A	1962141	3	1	283	1	0	0	0	0	1	0	0	0	7369	1145	40	1	553	1	HS3ST6	16	1962141	Missense_Mutation	SNP	G	TCGA-J4-AATZ-01A-11D-A41K-08		1962141	88392612	35	13038											
USP7	7874	broad.mit.edu	37	chr16	8989539	8989539	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgttgcaggagataaacatTctaatagttcatcttcttga	12	15	7	7	1	4	2	1	1	3	1	5	3	4	2	0	1	2	3	0	1	4	8			TCGA-J4-AATZ-01A-11D-A41K-08	TCGA-J4-AATZ-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e172e5-0c3a-46a6-9a66-78f0c77d8f7f	5d6e5f5b-51e4-47f3-835d-ea897c775d3a	g.chr16:8989539T>G	ENST00000344836.4	-	27	3077	c.2879A>C	c.(2878-2880)gAa>gCa	p.E960A	USP7_ENST00000535863.1_Missense_Mutation_p.E861A|USP7_ENST00000381886.4_Missense_Mutation_p.E944A	NM_003470.2	NP_003461.2	Q93009	UBP7_HUMAN	ubiquitin specific peptidase 7 (herpes virus-associated)	960					maintenance of DNA methylation (GO:0010216)|multicellular organismal development (GO:0007275)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|protein deubiquitination (GO:0016579)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|transcription-coupled nucleotide-excision repair (GO:0006283)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|p53 binding (GO:0002039)|protein C-terminus binding (GO:0008022)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(13)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	48						AGATAAACATTCTAATAGTTC	0.408																																						ENST00000344836.4																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(13)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	48						c.(2878-2880)gAa>gCa		ubiquitin specific peptidase 7 (herpes virus-associated)							73	71	72					16																	8989539		2197	4300	6497	SO:0001583	missense	7874				interspecies interaction between organisms|multicellular organismal development|protein deubiquitination|regulation of sequence-specific DNA binding transcription factor activity|ubiquitin-dependent protein catabolic process	cytoplasm|PML body	cysteine-type endopeptidase activity|p53 binding|protein C-terminus binding|transcription factor binding|ubiquitin protein ligase binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr16:8989539T>G	Z72499	CCDS32385.1, CCDS66941.1	16p13.3	2008-04-11	2005-08-08			ENSG00000187555		"Ubiquitin-specific peptidases"	12630	protein-coding gene	gene with protein product		602519	"ubiquitin specific protease 7 (herpes virus-associated)"	HAUSP		12838346, 9925944	Standard	NM_003470		Approved		uc002czl.2	Q93009		ENST00000344836.4:c.2879A>C	16.37:g.8989539T>G	ENSP00000343535:p.Glu960Ala					USP7_ENST00000381886.4_Missense_Mutation_p.E944A|USP7_ENST00000535863.1_Missense_Mutation_p.E861A	p.E960A	NM_003470.2	NP_003461.2	Q93009	UBP7_HUMAN			27	3077	-			960					A6NMY8|B7Z815|H0Y3G8	Missense_Mutation	SNP	ENST00000344836.4	37	c.2879A>C	CCDS32385.1	.	.	.	.	.	.	.	.	.	.	T	18.46	3.628799	0.67015	.	.	ENSG00000187555	ENST00000344836;ENST00000381886;ENST00000535863	T;T	0.07327	3.2;3.2	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	T	0.10078	0.0247	L	0.50333	1.59	0.80722	D	1	B;B	0.14012	0.009;0.009	B;B	0.17433	0.018;0.018	T	0.14727	-1.0462	10	0.12766	T	0.61	.	15.8527	0.78947	0.0:0.0:0.0:1.0	.	960;944	Q93009;B7Z815	UBP7_HUMAN;.	A	960;968;861	ENSP00000343535:E960A;ENSP00000443646:E861A	ENSP00000343535:E960A	E	-	2	0	USP7	8897040	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.919000	0.87513	2.146000	0.66826	0.528000	0.53228	GAA		0.408	USP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434268.2			4	35	0	0	0	1	0	4	35					G	8989539	T	G	8989539	3	3	283	1	0	0	0	0	1	0	0	0	17085	1783	62	5	449	5	USP7	16	8989539	Missense_Mutation	SNP	T	TCGA-J4-AATZ-01A-11D-A41K-08	7027398	8989539	81365214	36	13039											
HYDIN	54768	broad.mit.edu	37	chr16	70866774	70866774	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttaccgcaggtggtcccaCgcagactccagacagggtta	9	9	11	12	2	0	2	0	0	0	2	2	2	2	2	3	3	1	3	3	3	2	3			TCGA-J4-AATZ-01A-11D-A41K-08	TCGA-J4-AATZ-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e172e5-0c3a-46a6-9a66-78f0c77d8f7f	5d6e5f5b-51e4-47f3-835d-ea897c775d3a	g.chr16:70866774C>T	ENST00000393567.2	-	80	14026	c.13876G>A	c.(13876-13878)Gtg>Atg	p.V4626M		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	4626					cilium assembly (GO:0042384)|cilium movement (GO:0003341)|epithelial cell development (GO:0002064)|trachea development (GO:0060438)|ventricular system development (GO:0021591)	cell projection (GO:0042995)				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				GGTGGTCCCACGCAGACTCCA	0.572																																						ENST00000393567.2																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43						c.(13876-13878)Gtg>Atg		HYDIN, axonemal central pair apparatus protein							29	41	37					16																	70866774		2027	4266	6293	SO:0001583	missense	54768							g.chr16:70866774C>T	AK074472	CCDS10897.1, CCDS56004.1, CCDS56005.1, CCDS59269.1	16q22.2	2014-02-05	2012-01-06		ENSG00000157423	ENSG00000157423		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	19368	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 31"	610812	"hydrocephalus inducing", "hydrocephalus inducing homolog (mouse)"			12719380, 23022101	Standard	NM_001198542		Approved	DKFZp434D0513, KIAA1864, PPP1R31, CILD5	uc031qwy.1	Q4G0P3	OTTHUMG00000137584	ENST00000393567.2:c.13876G>A	16.37:g.70866774C>T	ENSP00000377197:p.Val4626Met						p.V4626M	NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN			80	14026	-		Ovarian(137;0.0654)	4626					A6NC70|A6NLZ0|B4DQY4|B4DRN4|F5H6V3|Q8N3H8|Q8N3P6|Q8TC08|Q96JG3|Q96SS4|Q9H5U3|Q9H9B8|Q9NTI0|Q9UBE5	Missense_Mutation	SNP	ENST00000393567.2	37	c.13876G>A	CCDS59269.1	.	.	.	.	.	.	.	.	.	.	C	11.47	1.646925	0.29246	.	.	ENSG00000157423	ENST00000393567;ENST00000316490	T	0.01240	5.12	4.62	4.62	0.57501	.	0.247017	0.19924	U	0.103015	T	0.02727	0.0082	L	0.55103	1.725	0.80722	D	1	B	0.28636	0.218	B	0.35813	0.211	T	0.52946	-0.8507	10	0.48119	T	0.1	.	12.0234	0.53356	0.0:0.9128:0.0:0.0872	.	4625	F8WD23	.	M	4626;4625	ENSP00000377197:V4626M	ENSP00000313052:V4625M	V	-	1	0	HYDIN	69424275	0.417000	0.25432	0.995000	0.50966	0.797000	0.45037	0.947000	0.29082	2.113000	0.64589	0.511000	0.50034	GTG		0.572	HYDIN-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000398624.3			9	24	0	0	0	1	0	9	24					T	70866774	C	T	70866774	3	4	283	1	0	0	0	0	1	0	0	0	7467	536	19	1	1517	1	HYDIN	16	70866774	Missense_Mutation	SNP	C	TCGA-J4-AATZ-01A-11D-A41K-08	61877235	70866774	19487979	37	13040											
ZNF23	7571	broad.mit.edu	37	chr16	71482059	71482059	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tggaagctaaacctgaatgcTttcccacacacactacacat	14	9	5	13	0	0	1	0	1	0	0	1	2	1	2	2	1	4	2	2	1	5	3			TCGA-J4-AATZ-01A-11D-A41K-08	TCGA-J4-AATZ-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e172e5-0c3a-46a6-9a66-78f0c77d8f7f	5d6e5f5b-51e4-47f3-835d-ea897c775d3a	g.chr16:71482059T>A	ENST00000393539.2	-	6	2682	c.1869A>T	c.(1867-1869)aaA>aaT	p.K623N	ZNF23_ENST00000564528.1_Missense_Mutation_p.K565N|ZNF23_ENST00000428724.2_Missense_Mutation_p.K565N|ZNF23_ENST00000497160.1_3'UTR|ZNF23_ENST00000357254.4_Missense_Mutation_p.K623N|ZNF23_ENST00000539742.1_5'UTR|AC010547.9_ENST00000561908.1_3'UTR|ZNF23_ENST00000358700.2_3'UTR|ZNF23_ENST00000417828.1_Missense_Mutation_p.K623N	NM_145911.1	NP_666016.1	P17027	ZNF23_HUMAN	zinc finger protein 23	623					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(14)|stomach(1)|urinary_tract(1)	29		Ovarian(137;0.00768)		BRCA - Breast invasive adenocarcinoma(221;0.0686)		ACCTGAATGCTTTCCCACACA	0.403																																						ENST00000393539.2																			0				NS(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(14)|stomach(1)|urinary_tract(1)	29						c.(1867-1869)aaA>aaT		zinc finger protein 23							105	103	103					16																	71482059		2198	4300	6498	SO:0001583	missense	7571				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:71482059T>A	X52347	CCDS10900.1	16q22.2	2013-03-28	2012-07-12		ENSG00000167377	ENSG00000167377		"Zinc fingers, C2H2-type"	13023	protein-coding gene	gene with protein product		194527	"zinc finger protein 359"	ZNF359			Standard	NM_145911		Approved	KOX16, Zfp612, ZNF612	uc002faf.3	P17027	OTTHUMG00000176797	ENST00000393539.2:c.1869A>T	16.37:g.71482059T>A	ENSP00000377171:p.Lys623Asn					RP11-510M2.10_ENST00000576258.1_RNA|ZNF23_ENST00000539742.1_5'UTR|ZNF23_ENST00000497160.1_3'UTR|ZNF23_ENST00000417828.1_Missense_Mutation_p.K623N|AC010547.9_ENST00000561908.1_3'UTR|ZNF23_ENST00000428724.2_Missense_Mutation_p.K565N|ZNF23_ENST00000564528.1_Missense_Mutation_p.K565N|ZNF23_ENST00000358700.2_3'UTR|ZNF23_ENST00000357254.4_Missense_Mutation_p.K623N	p.K623N	NM_145911.1	NP_666016.1	P17027	ZNF23_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0686)	6	2682	-		Ovarian(137;0.00768)	623					Q8NDP5|Q96IT3|Q9UG42	Missense_Mutation	SNP	ENST00000393539.2	37	c.1869A>T	CCDS10900.1	.	.	.	.	.	.	.	.	.	.	T	16.33	3.091939	0.55968	.	.	ENSG00000167377	ENST00000393539;ENST00000357254;ENST00000417828;ENST00000428724;ENST00000539742;ENST00000358700	T;T;T;T	0.35973	1.28;1.28;1.28;1.28	4.01	2.92	0.33932	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.181579	0.27027	N	0.021298	T	0.63768	0.2539	M	0.92077	3.27	0.32346	N	0.55906	D;D	0.89917	0.999;1.0	D;D	0.87578	0.974;0.998	T	0.72250	-0.4348	10	0.87932	D	0	.	7.8008	0.29174	0.0:0.1021:0.0:0.8979	.	623;623	B3KR55;P17027	.;ZNF23_HUMAN	N	623;623;623;565;565;395	ENSP00000377171:K623N;ENSP00000349796:K623N;ENSP00000395712:K623N;ENSP00000387673:K565N	ENSP00000349796:K623N	K	-	3	2	ZNF23	70039560	0.005000	0.15991	1.000000	0.80357	0.985000	0.73830	0.019000	0.13444	0.897000	0.36392	0.533000	0.62120	AAA		0.403	ZNF23-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268985.23	NM_145911		5	113	0	0	0	1	0	5	113					A	71482059	T	A	71482059	3	1	283	1	0	0	0	0	1	0	0	0	17780	1606	56	5	66	5	ZNF23	16	71482059	Missense_Mutation	SNP	T	TCGA-J4-AATZ-01A-11D-A41K-08	615285	71482059	18872694	38	13041											
MYO15A	51168	broad.mit.edu	37	chr17	18025164	18025164	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gaagcctgaagaagaggccaCcctgggggacccccagctgc	10	3	14	14	0	0	3	0	1	0	2	0	5	0	4	5	3	3	1	5	3	3	0			TCGA-J4-AATZ-01A-11D-A41K-08	TCGA-J4-AATZ-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e172e5-0c3a-46a6-9a66-78f0c77d8f7f	5d6e5f5b-51e4-47f3-835d-ea897c775d3a	g.chr17:18025164C>A	ENST00000205890.5	+	2	3388	c.3050C>A	c.(3049-3051)aCc>aAc	p.T1017N		NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	1017					inner ear morphogenesis (GO:0042472)|locomotory behavior (GO:0007626)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|stereocilium (GO:0032420)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					GAAGAGGCCACCCTGGGGGAC	0.622																																						ENST00000205890.5																			0				breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99						c.(3049-3051)aCc>aAc		myosin XVA							33	39	37					17																	18025164		1912	4123	6035	SO:0001583	missense	51168				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity	g.chr17:18025164C>A	AF144094	CCDS42271.1	17p11.2	2011-09-27			ENSG00000091536	ENSG00000091536		"Myosins / Myosin superfamily : Class XV"	7594	protein-coding gene	gene with protein product		602666		DFNB3, MYO15		9603736	Standard	NM_016239		Approved		uc021trl.1	Q9UKN7	OTTHUMG00000059390	ENST00000205890.5:c.3050C>A	17.37:g.18025164C>A	ENSP00000205890:p.Thr1017Asn						p.T1017N	NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN			2	3388	+	all_neural(463;0.228)		1017			Myosin head-like.		B4DFC7	Missense_Mutation	SNP	ENST00000205890.5	37	c.3050C>A	CCDS42271.1	.	.	.	.	.	.	.	.	.	.	c	12.75	2.031926	0.35893	.	.	ENSG00000091536	ENST00000205890	D	0.87650	-2.28	4.83	-8.82	0.00810	.	.	.	.	.	T	0.72906	0.3519	N	0.24115	0.695	0.09310	N	1	B	0.21309	0.054	B	0.16722	0.016	T	0.57493	-0.7802	9	0.36615	T	0.2	.	8.3316	0.32189	0.0:0.1624:0.4955:0.342	.	1017	Q9UKN7	MYO15_HUMAN	N	1017	ENSP00000205890:T1017N	ENSP00000205890:T1017N	T	+	2	0	MYO15A	17965889	0.000000	0.05858	0.000000	0.03702	0.033000	0.12548	-1.245000	0.02899	-1.360000	0.02172	-0.266000	0.10368	ACC		0.622	MYO15A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132048.1	NM_016239		3	43	1	0	0.115264	1	0.117094	3	43					A	18025164	C	A	18025164	3	1	283	1	0	0	0	0	1	0	0	0	10063	507	18	5	3052	5	MYO15A	17	18025164	Missense_Mutation	SNP	C	TCGA-J4-AATZ-01A-11D-A41K-08		18025164	63170046	39	13042											
GPATCH8	23131	broad.mit.edu	37	chr17	42476814	42476815	+	Frame_Shift_Ins	INS	-	-	T																															tatagcagctctggtctgaaINSgaggcatctgagctacttga																										TCGA-J4-AATZ-01A-11D-A41K-08	TCGA-J4-AATZ-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e172e5-0c3a-46a6-9a66-78f0c77d8f7f	5d6e5f5b-51e4-47f3-835d-ea897c775d3a	g.chr17:42476814_42476815insT	ENST00000591680.1	-	8	2660_2661	c.2630_2631insA	c.(2629-2631)tctfs	p.S877fs	GPATCH8_ENST00000434000.1_Frame_Shift_Ins_p.S799fs	NM_001002909.2	NP_001002909.1	Q9UKJ3	GPTC8_HUMAN	G patch domain containing 8	877	Ser-rich.						metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			breast(4)|endometrium(7)|kidney(6)|large_intestine(4)|liver(2)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.206)		TCTGGTCTGAAGAGGCATCTGA	0.554																																						ENST00000434000.1																			0				breast(4)|endometrium(7)|kidney(6)|large_intestine(4)|liver(2)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50						c.(2395-2397)ttcfs		G patch domain containing 8																																				SO:0001589	frameshift_variant	23131					intracellular	nucleic acid binding|zinc ion binding	g.chr17:42476814_42476815insT	AB011125	CCDS32666.1	17q21.31	2013-01-28	2006-08-22	2006-12-13	ENSG00000186566	ENSG00000186566		"G patch domain containing"	29066	protein-coding gene	gene with protein product		614396	"KIAA0553"	KIAA0553, GPATC8		9628581	Standard	NM_001002909		Approved		uc002igw.2	Q9UKJ3	OTTHUMG00000181818	ENST00000591680.1:c.2630_2631insA	17.37:g.42476814_42476815insT	ENSP00000467556:p.Ser877fs					GPATCH8_ENST00000591680.1_Frame_Shift_Ins_p.F877fs	p.F799fs			Q9UKJ3	GPTC8_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.206)	9	2678_2679	-		Prostate(33;0.0181)	877					B9EGP9|O60300|Q8TB99	Frame_Shift_Ins	INS	ENST00000591680.1	37	c.2396_2397insA	CCDS32666.1																																																																																				0.554	GPATCH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457797.1	NM_001002909		22	39						22	39	---	---	---	---	T	42476815	-	T	42476814	7	5	283	1	0	1	1	0	0	0	0	0	6594	59	3	0	1881	0	GPATCH8	17	42476814	Frame_Shift_Ins	INS	-	TCGA-J4-AATZ-01A-11D-A41K-08	24451650	42476814	38718396	40	13043											
ELP2	55250	broad.mit.edu	37	chr18	33747151	33747151	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttgtgattggagtcctgacaGcaagtatttcttcactggga	9	14	11	7	0	2	2	1	2	1	0	3	4	3	4	1	2	1	2	1	2	2	5	rs150412497		TCGA-J4-AATZ-01A-11D-A41K-08	TCGA-J4-AATZ-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e172e5-0c3a-46a6-9a66-78f0c77d8f7f	5d6e5f5b-51e4-47f3-835d-ea897c775d3a	g.chr18:33747151G>A	ENST00000358232.6	+	19	2105	c.2042G>A	c.(2041-2043)aGc>aAc	p.S681N	ELP2_ENST00000542824.1_Missense_Mutation_p.S611N|ELP2_ENST00000442325.2_Missense_Mutation_p.S746N|ELP2_ENST00000351393.6_Missense_Mutation_p.S655N|ELP2_ENST00000423854.2_Missense_Mutation_p.S611N|ELP2_ENST00000350494.6_Missense_Mutation_p.S676N	NM_018255.2	NP_060725.1	Q6IA86	ELP2_HUMAN	elongator acetyltransferase complex subunit 2	681					chromatin organization (GO:0006325)|regulation of JAK-STAT cascade (GO:0046425)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription elongation from RNA polymerase II promoter (GO:0006368)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|Elongator holoenzyme complex (GO:0033588)|nucleolus (GO:0005730)|transcription elongation factor complex (GO:0008023)				NS(1)|breast(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|skin(2)|urinary_tract(2)	30						AGTCCTGACAGCAAGTATTTC	0.289																																						ENST00000358232.6																			0				NS(1)|breast(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|skin(2)|urinary_tract(2)	30						c.(2041-2043)aGc>aAc		elongator acetyltransferase complex subunit 2							114	110	111					18																	33747151		2203	4300	6503	SO:0001583	missense	55250				regulation of transcription from RNA polymerase II promoter	Golgi apparatus|transcription elongation factor complex		g.chr18:33747151G>A	AK001741	CCDS11918.1, CCDS56065.1, CCDS56066.1, CCDS56067.1, CCDS56068.1, CCDS56069.1	18q12.1	2013-01-10	2012-08-08	2007-04-20	ENSG00000134759	ENSG00000134759		"Elongator acetyltransferase complex subunits", "WD repeat domain containing"	18248	protein-coding gene	gene with protein product			"signal transducer and activator of transcription 3 interacting protein 1", "elongation protein 2 homolog (S. cerevisiae)"	STATIP1		11714725, 10954736	Standard	NM_001242875		Approved	FLJ10879, StIP	uc002kzk.2	Q6IA86	OTTHUMG00000132589	ENST00000358232.6:c.2042G>A	18.37:g.33747151G>A	ENSP00000350967:p.Ser681Asn					ELP2_ENST00000351393.6_Missense_Mutation_p.S655N|ELP2_ENST00000542824.1_Missense_Mutation_p.S611N|ELP2_ENST00000423854.2_Missense_Mutation_p.S611N|ELP2_ENST00000442325.2_Missense_Mutation_p.S746N|ELP2_ENST00000350494.6_Missense_Mutation_p.S676N	p.S681N	NM_018255.2	NP_060725.1	Q6IA86	ELP2_HUMAN			19	2105	+			681					A8KAI6|B4DTG0|B4DXP0|E7EP23|E9PCX0|Q53GZ0|Q687Y8|Q8N5C2|Q96GV4|Q96PI7|Q9H9N0|Q9NV81	Missense_Mutation	SNP	ENST00000358232.6	37	c.2042G>A	CCDS11918.1	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	G	13.73	2.322884	0.41096	.	.	ENSG00000134759	ENST00000358232;ENST00000351393;ENST00000442325;ENST00000423854;ENST00000350494;ENST00000542824	T;T;T;T;T;T	0.70516	-0.49;-0.49;1.02;-0.49;-0.04;-0.49	5.97	5.09	0.68999	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (2);WD40-repeat-containing domain (1);	0.318415	0.45606	N	0.000341	T	0.62036	0.2395	L	0.31065	0.9	0.47949	D	0.999555	B;B;B;B;B;B	0.18461	0.028;0.028;0.009;0.016;0.005;0.02	B;B;B;B;B;B	0.28784	0.094;0.094;0.059;0.035;0.025;0.059	T	0.59236	-0.7492	10	0.48119	T	0.1	-2.0734	13.4295	0.61046	0.0766:0.0:0.9234:0.0	.	676;746;611;611;655;681	B4DTG0;E7EP23;E9PCX0;Q6IA86-2;Q6IA86-3;Q6IA86	.;.;.;.;.;ELP2_HUMAN	N	681;655;746;611;676;611	ENSP00000350967:S681N;ENSP00000257191:S655N;ENSP00000414851:S746N;ENSP00000391202:S611N;ENSP00000316051:S676N;ENSP00000443800:S611N	ENSP00000316051:S676N	S	+	2	0	ELP2	32001149	1.000000	0.71417	0.998000	0.56505	0.971000	0.66376	5.104000	0.64584	1.505000	0.48720	0.655000	0.94253	AGC		0.289	ELP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255800.2	NM_018255		4	75	0	0	0	1	0	4	75					A	33747151	G	A	33747151	3	1	283	1	0	0	0	0	1	0	0	0	5080	971	34	3	2116	3	ELP2	18	33747151	Missense_Mutation	SNP	G	TCGA-J4-AATZ-01A-11D-A41K-08		33747151	44330097	41	13044											
DCC	1630	broad.mit.edu	37	chr18	50278598	50278598	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cttgggaatggatgaaaggaAgcagcaactttcaaatgggt	14	9	13	5	0	1	1	1	1	0	0	1	4	1	4	0	4	3	2	0	4	5	2			TCGA-J4-AATZ-01A-11D-A41K-08	TCGA-J4-AATZ-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e172e5-0c3a-46a6-9a66-78f0c77d8f7f	5d6e5f5b-51e4-47f3-835d-ea897c775d3a	g.chr18:50278598A>C	ENST00000442544.2	+	2	882	c.266A>C	c.(265-267)aAg>aCg	p.K89T	DCC_ENST00000412726.1_5'UTR	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	DCC netrin 1 receptor	89	Ig-like C2-type 1.				anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|axonogenesis (GO:0007409)|dorsal/ventral axon guidance (GO:0033563)|negative regulation of collateral sprouting (GO:0048671)|negative regulation of dendrite development (GO:2000171)|negative regulation of neuron projection development (GO:0010977)|neuron migration (GO:0001764)|positive regulation of apoptotic process (GO:0043065)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron projection development (GO:0010976)|regulation of apoptotic process (GO:0042981)|response to amphetamine (GO:0001975)|spinal cord ventral commissure morphogenesis (GO:0021965)	axon (GO:0030424)|cytosol (GO:0005829)|growth cone membrane (GO:0032584)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	netrin receptor activity (GO:0005042)|transcription coactivator activity (GO:0003713)|transmembrane signaling receptor activity (GO:0004888)			NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		GATGAAAGGAAGCAGCAACTT	0.483																																						ENST00000442544.2																			0				NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148						c.(265-267)aAg>aCg		deleted in colorectal carcinoma							126	117	120					18																	50278598		2203	4300	6503	SO:0001583	missense	1630				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane		g.chr18:50278598A>C	X76132	CCDS11952.1	18q21.1	2014-06-20	2014-06-20		ENSG00000187323	ENSG00000187323		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	2701	protein-coding gene	gene with protein product	"immunoglobulin superfamily, DCC subclass, member 1"	120470	"deleted in colorectal carcinoma"			2294591, 24400119	Standard	NM_005215		Approved	IGDCC1, NTN1R1	uc002lfe.2	P43146	OTTHUMG00000132698	ENST00000442544.2:c.266A>C	18.37:g.50278598A>C	ENSP00000389140:p.Lys89Thr					DCC_ENST00000412726.1_5'UTR	p.K89T	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)	2	882	+		all_cancers(7;0.11)|all_epithelial(6;0.00126)	89			Ig-like C2-type 1.			Missense_Mutation	SNP	ENST00000442544.2	37	c.266A>C	CCDS11952.1	.	.	.	.	.	.	.	.	.	.	A	9.749	1.166910	0.21621	.	.	ENSG00000187323	ENST00000442544;ENST00000304775	T	0.01505	4.82	5.52	5.52	0.82312	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.071802	0.56097	D	0.000032	T	0.01940	0.0061	N	0.04203	-0.255	0.80722	D	1	P	0.37500	0.597	P	0.49799	0.622	T	0.66666	-0.5866	10	0.54805	T	0.06	.	7.0024	0.24817	0.8353:0.0:0.1647:0.0	.	89	P43146	DCC_HUMAN	T	89;22	ENSP00000389140:K89T	ENSP00000304146:K22T	K	+	2	0	DCC	48532596	1.000000	0.71417	1.000000	0.80357	0.400000	0.30750	7.248000	0.78268	2.092000	0.63282	0.533000	0.62120	AAG		0.483	DCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255996.3	NM_005215		5	42	0	0	0	1	0	5	42					C	50278598	A	C	50278598	3	2	283	1	0	0	0	0	1	0	0	0	4282	72	3	5	272	5	DCC	18	50278598	Missense_Mutation	SNP	A	TCGA-J4-AATZ-01A-11D-A41K-08	16531447	50278598	27798650	42	13045											
NR2F6	2063	broad.mit.edu	37	chr19	17343311	17343311	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgcgcagggcggggagccgCagcagcaggcgcccgaagcg	7	0	20	14	7	0	0	0	0	0	0	0	2	0	1	2	4	4	4	2	4	1	0			TCGA-J4-AATZ-01A-11D-A41K-08	TCGA-J4-AATZ-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e172e5-0c3a-46a6-9a66-78f0c77d8f7f	5d6e5f5b-51e4-47f3-835d-ea897c775d3a	g.chr19:17343311C>T	ENST00000291442.3	-	4	1784	c.1065G>A	c.(1063-1065)ctG>ctA	p.L355L		NM_005234.3	NP_005225.2	P10588	NR2F6_HUMAN	nuclear receptor subfamily 2, group F, member 6	355	Important for dimerization. {ECO:0000250}.|Ligand-binding. {ECO:0000250}.				detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|entrainment of circadian clock by photoperiod (GO:0043153)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron development (GO:0048666)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|thyroid hormone receptor activity (GO:0004887)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(1)|lung(1)	5						CGGGGAGCCGCAGCAGCAGGC	0.677																																						ENST00000291442.3																			0				endometrium(2)|kidney(1)|large_intestine(1)|lung(1)	5						c.(1063-1065)ctG>ctA		nuclear receptor subfamily 2, group F, member 6							19	20	20					19																	17343311		2198	4295	6493	SO:0001819	synonymous_variant	2063				negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|thyroid hormone receptor activity|zinc ion binding	g.chr19:17343311C>T	X12794	CCDS12352.1	19p13.11	2013-09-20			ENSG00000160113	ENSG00000160113		"Nuclear hormone receptors"	7977	protein-coding gene	gene with protein product		132880		ERBAL2		2905047	Standard	NM_005234		Approved	EAR-2	uc002nfq.3	P10588	OTTHUMG00000182728	ENST00000291442.3:c.1065G>A	19.37:g.17343311C>T							p.L355L	NM_005234.3	NP_005225.2	P10588	NR2F6_HUMAN			4	1784	-			355			Important for dimerization (By similarity).|Ligand-binding (By similarity).		B2RC68|Q5XGA0|Q6P586|Q9BUE8	Silent	SNP	ENST00000291442.3	37	c.1065G>A	CCDS12352.1																																																																																				0.677	NR2F6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463325.1			7	8	0	0	0	1	0	7	8					T	17343311	C	T	17343311	2	4	283	1	0	0	0	0	0	0	0	1	10629	697	25	3		3	NR2F6	19	17343311	Silent	SNP	C	TCGA-J4-AATZ-01A-11D-A41K-08		17343311	41785672	43	13046											
ANKRD27	84079	broad.mit.edu	37	chr19	33140667	33140667	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gacaagtagactggatgctgCtcgacaggcttcctttgcag	9	10	12	10	1	0	1	0	0	0	1	2	4	1	2	1	2	3	5	1	2	2	3			TCGA-J4-AATZ-01A-11D-A41K-08	TCGA-J4-AATZ-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e172e5-0c3a-46a6-9a66-78f0c77d8f7f	5d6e5f5b-51e4-47f3-835d-ea897c775d3a	g.chr19:33140667C>G	ENST00000306065.4	-	3	292	c.134G>C	c.(133-135)aGc>aCc	p.S45T	ANKRD27_ENST00000587352.1_Missense_Mutation_p.S45T	NM_032139.2	NP_115515.2	Q96NW4	ANR27_HUMAN	ankyrin repeat domain 27 (VPS9 domain)	45					early endosome to late endosome transport (GO:0045022)|positive regulation of GTPase activity (GO:0043547)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|lysosome (GO:0005764)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)			breast(3)|endometrium(7)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	42	Esophageal squamous(110;0.137)					CTGGATGCTGCTCGACAGGCT	0.448																																						ENST00000306065.4																			0				breast(3)|endometrium(7)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	42						c.(133-135)aGc>aCc		ankyrin repeat domain 27 (VPS9 domain)							148	152	151					19																	33140667		2203	4300	6503	SO:0001583	missense	84079				early endosome to late endosome transport	early endosome|lysosome	GTPase activator activity|guanyl-nucleotide exchange factor activity	g.chr19:33140667C>G	AK054561	CCDS32986.1	19q13.12	2013-01-10				ENSG00000105186		"Ankyrin repeat domain containing"	25310	protein-coding gene	gene with protein product	"Vps9 domain and ankyrin-repeat-containing protein"					11230166, 16525121	Standard	NM_032139		Approved	FLJ00040, DKFZp434L0718, VARP	uc002ntn.1	Q96NW4		ENST00000306065.4:c.134G>C	19.37:g.33140667C>G	ENSP00000304292:p.Ser45Thr					ANKRD27_ENST00000587352.1_Missense_Mutation_p.S45T|ANKRD27_ENST00000586693.2_5'UTR	p.S45T	NM_032139.2	NP_115515.2	Q96NW4	ANR27_HUMAN			3	292	-	Esophageal squamous(110;0.137)		45					Q71MF5|Q86UC3|Q8ND80|Q9H0I4	Missense_Mutation	SNP	ENST00000306065.4	37	c.134G>C	CCDS32986.1	.	.	.	.	.	.	.	.	.	.	C	4.423	0.078184	0.08485	.	.	ENSG00000105186	ENST00000306065	T	0.62364	0.03	6.16	5.12	0.69794	.	0.081822	0.52532	D	0.000066	T	0.47266	0.1436	L	0.27053	0.805	0.09310	N	0.999999	B	0.02656	0.0	B	0.06405	0.002	T	0.32981	-0.9886	10	0.31617	T	0.26	-9.9707	10.913	0.47120	0.0:0.8023:0.131:0.0667	.	45	Q96NW4	ANR27_HUMAN	T	45	ENSP00000304292:S45T	ENSP00000304292:S45T	S	-	2	0	ANKRD27	37832507	0.987000	0.35691	0.042000	0.18584	0.004000	0.04260	1.528000	0.35985	1.608000	0.50180	0.650000	0.86243	AGC		0.448	ANKRD27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450329.1	NM_032139		14	135	0	0	0	1	0	14	135					G	33140667	C	G	33140667	3	3	283	1	0	0	0	0	1	0	0	0	655	797	28	5	3126	5	ANKRD27	19	33140667	Missense_Mutation	SNP	C	TCGA-J4-AATZ-01A-11D-A41K-08	15797356	33140667	25988316	44	13047											
LRRC4B	94030	broad.mit.edu	37	chr19	51021545	51021545	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccactgccccctccaacaccAccactgcccccagggccgcc	7	3	6	25	1	0	0	0	0	0	0	1	0	1	0	10	1	3	0	10	1	1	0			TCGA-J4-AATZ-01A-11D-A41K-08	TCGA-J4-AATZ-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e172e5-0c3a-46a6-9a66-78f0c77d8f7f	5d6e5f5b-51e4-47f3-835d-ea897c775d3a	g.chr19:51021545A>G	ENST00000599957.1	-	3	1622	c.1425T>C	c.(1423-1425)ggT>ggC	p.G475G	LRRC4B_ENST00000389201.3_Silent_p.G475G			Q9NT99	LRC4B_HUMAN	leucine rich repeat containing 4B	475	Gly-rich.				positive regulation of synapse assembly (GO:0051965)	cell junction (GO:0030054)|cerebellar mossy fiber (GO:0044300)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synapse (GO:0045202)				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(1)|lung(11)|prostate(4)|skin(1)|urinary_tract(1)	30		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00284)|GBM - Glioblastoma multiforme(134;0.0188)		ctccaacaccaccactgcccc	0.751																																						ENST00000599957.1																			0				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(1)|lung(11)|prostate(4)|skin(1)|urinary_tract(1)	30						c.(1423-1425)ggT>ggC		leucine rich repeat containing 4B							7	9	8					19																	51021545		1726	3882	5608	SO:0001819	synonymous_variant	94030					cell junction|integral to membrane|presynaptic membrane		g.chr19:51021545A>G	BC032460	CCDS42595.1	19q13.33	2014-01-30	2004-06-14	2004-06-16	ENSG00000131409	ENSG00000131409		"Immunoglobulin superfamily / I-set domain containing", "Endogenous ligands"	25042	protein-coding gene	gene with protein product	"netrin-G3 ligand"		"leucine-rich repeats and immunoglobulin-like domains 4"	LRIG4		11441184	Standard	NM_001080457		Approved	DKFZp761A179, HSM	uc002pss.3	Q9NT99		ENST00000599957.1:c.1425T>C	19.37:g.51021545A>G						LRRC4B_ENST00000389201.3_Silent_p.G475G	p.G475G			Q9NT99	LRC4B_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00284)|GBM - Glioblastoma multiforme(134;0.0188)	3	1622	-		all_neural(266;0.131)	475			Gly-rich.		Q3ZCQ4|Q58F20	Silent	SNP	ENST00000599957.1	37	c.1425T>C	CCDS42595.1																																																																																				0.751	LRRC4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464907.1	NM_001080457		3	8	0	0	0	1	0	3	8					G	51021545	A	G	51021545	2	3	283	1	0	0	0	0	0	0	0	1	9007	146	6	4		4	LRRC4B	19	51021545	Silent	SNP	A	TCGA-J4-AATZ-01A-11D-A41K-08	17880878	51021545	8107438	45	13048											
KCNQ2	3785	broad.mit.edu	37	chr20	62070978	62070978	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agcgcgaagaaggagacaccGatgagggtgaaggttgccgc	12	4	17	8	4	0	4	0	2	0	2	0	7	0	4	2	3	2	1	2	3	3	1			TCGA-J4-AATZ-01A-11D-A41K-08	TCGA-J4-AATZ-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e172e5-0c3a-46a6-9a66-78f0c77d8f7f	5d6e5f5b-51e4-47f3-835d-ea897c775d3a	g.chr20:62070978G>A	ENST00000359125.2	-	6	1074	c.900C>T	c.(898-900)atC>atT	p.I300I	KCNQ2_ENST00000344462.4_Silent_p.I300I|KCNQ2_ENST00000370224.1_Silent_p.I300I|KCNQ2_ENST00000357249.2_Silent_p.I300I|KCNQ2_ENST00000359689.1_Silent_p.I300I|KCNQ2_ENST00000354587.3_Silent_p.I300I|KCNQ2_ENST00000344425.5_Silent_p.I300I|KCNQ2_ENST00000360480.3_Silent_p.I300I	NM_172107.2	NP_742105.1	O43526	KCNQ2_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 2	300					axon guidance (GO:0007411)|nervous system development (GO:0007399)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)|transmission of nerve impulse (GO:0019226)	axon initial segment (GO:0043194)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	ankyrin binding (GO:0030506)|delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)			biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|liver(1)|lung(30)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65	all_cancers(38;1.24e-11)		BRCA - Breast invasive adenocarcinoma(10;1.04e-05)		Amitriptyline(DB00321)|Diclofenac(DB00586)|Ezogabine(DB04953)|Meclofenamic acid(DB00939)	AGGAGACACCGATGAGGGTGA	0.642																																						ENST00000354587.3																			0				biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|liver(1)|lung(30)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65						c.(898-900)atC>atT		potassium voltage-gated channel, KQT-like subfamily, member 2	Amitriptyline(DB00321)						199	149	166					20																	62070978		2203	4300	6503	SO:0001819	synonymous_variant	3785				axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr20:62070978G>A	AF033348	CCDS13518.1, CCDS13519.1, CCDS13520.1, CCDS13521.1, CCDS46629.1	20q13.33	2012-07-05			ENSG00000075043	ENSG00000075043		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6296	protein-coding gene	gene with protein product		602235		EBN, EBN1		9425895, 16382104	Standard	NM_172107		Approved	Kv7.2, ENB1, BFNC, KCNA11, HNSPC	uc002yex.3	O43526	OTTHUMG00000033049	ENST00000359125.2:c.900C>T	20.37:g.62070978G>A						KCNQ2_ENST00000344462.3_Silent_p.I300I|KCNQ2_ENST00000344425.5_Silent_p.I300I|KCNQ2_ENST00000357249.2_Silent_p.I300I|KCNQ2_ENST00000370222.3_Silent_p.I300I|KCNQ2_ENST00000359125.2_Silent_p.I300I|KCNQ2_ENST00000359689.1_Silent_p.I300I|KCNQ2_ENST00000370226.1_Silent_p.I300I|KCNQ2_ENST00000360480.3_Silent_p.I300I|KCNQ2_ENST00000370221.1_Silent_p.I300I|KCNQ2_ENST00000430658.1_Silent_p.I300I|KCNQ2_ENST00000370224.1_Silent_p.I300I	p.I300I			O43526	KCNQ2_HUMAN	BRCA - Breast invasive adenocarcinoma(10;1.04e-05)		6	1076	-	all_cancers(38;1.24e-11)		300					O43796|O75580|O95845|Q4VXP4|Q4VXR6|Q5VYT8|Q96J59|Q99454	Silent	SNP	ENST00000359125.2	37	c.900C>T	CCDS13520.1																																																																																				0.642	KCNQ2-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000080353.1	NM_172109		15	16	0	0	0	1	0	15	16					A	62070978	G	A	62070978	2	1	283	1	0	0	0	0	0	0	0	1	8083	1048	37	2		2	KCNQ2	20	62070978	Silent	SNP	G	TCGA-J4-AATZ-01A-11D-A41K-08		62070978	954542	46	13049											
ZNF512B	57473	broad.mit.edu	37	chr20	62593996	62593996	+	Frame_Shift_Del	DEL	C	C	-																															ccgcttggtccagtcgcgggCcagctcgtcctccgctatct																										TCGA-J4-AATZ-01A-11D-A41K-08	TCGA-J4-AATZ-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e172e5-0c3a-46a6-9a66-78f0c77d8f7f	5d6e5f5b-51e4-47f3-835d-ea897c775d3a	g.chr20:62593996delC	ENST00000450537.1	-	13	2167	c.2107delG	c.(2107-2109)gccfs	p.A703fs	ZNF512B_ENST00000369888.1_Frame_Shift_Del_p.A703fs|ZNF512B_ENST00000217130.3_Frame_Shift_Del_p.A703fs			Q96KM6	Z512B_HUMAN	zinc finger protein 512B	703					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(4)|skin(1)	33	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)					CAGTCGCGGGCCAGCTCGTCC	0.716																																						ENST00000450537.1																			0				NS(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(4)|skin(1)	33						c.(2107-2109)ccfs		zinc finger protein 512B							17	16	17					20																	62593996		2191	4281	6472	SO:0001589	frameshift_variant	57473				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr20:62593996delC	AB033022	CCDS13548.1	20q13.33	2011-02-09			ENSG00000196700	ENSG00000196700			29212	protein-coding gene	gene with protein product						10574462	Standard	NM_020713		Approved	GM632, MGC149845, MGC149846	uc002yhl.2	Q96KM6	OTTHUMG00000033008	ENST00000450537.1:c.2107delG	20.37:g.62593996delC	ENSP00000393795:p.Ala703fs					ZNF512B_ENST00000369888.1_Frame_Shift_Del_p.A703fs|ZNF512B_ENST00000217130.3_Frame_Shift_Del_p.A703fs	p.A703fs			Q96KM6	Z512B_HUMAN			13	2167	-	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)		703					Q08AK9|Q9ULM4	Frame_Shift_Del	DEL	ENST00000450537.1	37	c.2107delG	CCDS13548.1																																																																																				0.716	ZNF512B-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080246.1	NM_020713		2	4						2	4	---	---	---	---	-	62593996	C	-	62593996	7	5	283	1	0	1	0	1	0	0	0	0	17954	739	26	0	591	0	ZNF512B	20	62593996	Frame_Shift_Del	DEL	C	TCGA-J4-AATZ-01A-11D-A41K-08	523018	62593996	431524	47	13050											
FANCB	2187	broad.mit.edu	37	chrX	14861809	14861809	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcgtttgcaacattttcttCttttctctctgaagttcttt	5	23	4	9	1	5	1	0	1	5	0	7	1	5	1	0	0	2	3	0	0	2	9			TCGA-J4-AATZ-01A-11D-A41K-08	TCGA-J4-AATZ-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e172e5-0c3a-46a6-9a66-78f0c77d8f7f	5d6e5f5b-51e4-47f3-835d-ea897c775d3a	g.chrX:14861809C>A	ENST00000324138.3	-	9	2613	c.2460G>T	c.(2458-2460)aaG>aaT	p.K820N	FANCB_ENST00000398334.1_Missense_Mutation_p.K820N	NM_152633.2	NP_689846.1	Q8NB91	FANCB_HUMAN	Fanconi anemia, complementation group B	820					DNA repair (GO:0006281)	Fanconi anaemia nuclear complex (GO:0043240)|nucleoplasm (GO:0005654)				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	24	Hepatocellular(33;0.183)					ACATTTTCTTCTTTTCTCTCT	0.418								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																													ENST00000398334.1																			0				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	24						c.(2458-2460)aaG>aaT	Involved in tolerance or repair of DNA crosslinks	Fanconi anemia, complementation group B							153	133	140					X																	14861809		2203	4300	6503	SO:0001583	missense	2187	Fanconi Anemia	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	DNA repair	nucleoplasm		g.chrX:14861809C>A	AK091383	CCDS14161.1	Xp22.2	2014-09-17			ENSG00000181544	ENSG00000181544		"Fanconi anemia, complementation groups"	3583	protein-coding gene	gene with protein product		300515				9382107, 15502827	Standard	NM_152633		Approved	FAB, FLJ34064, FAAP95	uc004cwh.1	Q8NB91	OTTHUMG00000021168	ENST00000324138.3:c.2460G>T	X.37:g.14861809C>A	ENSP00000326819:p.Lys820Asn					FANCB_ENST00000324138.3_Missense_Mutation_p.K820N	p.K820N	NM_001018113.1	NP_001018123.1	Q8NB91	FANCB_HUMAN			10	2727	-	Hepatocellular(33;0.183)		820					B2RMZ4|Q7Z2U2|Q86XG1	Missense_Mutation	SNP	ENST00000324138.3	37	c.2460G>T	CCDS14161.1	.	.	.	.	.	.	.	.	.	.	C	13.20	2.167139	0.38217	.	.	ENSG00000181544	ENST00000324138;ENST00000398334	.	.	.	5.4	3.59	0.41128	.	0.302095	0.37095	N	0.002255	T	0.57475	0.2056	M	0.61703	1.905	0.22591	N	0.998954	D	0.76494	0.999	D	0.77557	0.99	T	0.48364	-0.9042	9	0.72032	D	0.01	-9.2234	9.4704	0.38839	0.0:0.7656:0.0:0.2344	.	820	Q8NB91	FANCB_HUMAN	N	820	.	ENSP00000326819:K820N	K	-	3	2	FANCB	14771730	0.013000	0.17824	0.656000	0.29637	0.184000	0.23303	0.240000	0.18042	1.019000	0.39547	0.594000	0.82650	AAG		0.418	FANCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055835.1	NM_152633		10	54	1	0	0.000673444	1	0.00071834	10	54					A	14861809	C	A	14861809	3	1	283	1	0	0	0	0	1	0	0	0	5663	912	32	5	123	5	FANCB	23	14861809	Missense_Mutation	SNP	C	TCGA-J4-AATZ-01A-11D-A41K-08		14861809	140408751	48	13051											
GAGE2A	729447	broad.mit.edu	37	chrX	49355893	49355893	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcagctgctcaggagggaCaggatgagggagcatctgca	10	6	16	9	0	2	1	1	1	1	0	2	5	2	5	0	4	5	5	0	4	0	0	rs59641550		TCGA-J4-AATZ-01A-11D-A41K-08	TCGA-J4-AATZ-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e172e5-0c3a-46a6-9a66-78f0c77d8f7f	5d6e5f5b-51e4-47f3-835d-ea897c775d3a	g.chrX:49355893C>G	ENST00000362097.1	+	3	258	c.175C>G	c.(175-177)Cag>Gag	p.Q59E		NM_001127212.1	NP_001120684.1	Q6NT46	GAG2A_HUMAN	G antigen 2A	59								p.Q59E(8)		endometrium(4)	4	Ovarian(276;0.236)					TCAGGAGGGACAGGATGAGGG	0.562																																						ENST00000362097.1																			8	Substitution - Missense(8)	p.Q59E(8)	endometrium(8)	endometrium(4)	4						c.(175-177)Cag>Gag		G antigen 2A																																				SO:0001583	missense	729447							g.chrX:49355893C>G	U19143	CCDS48114.1	Xp11.23	2009-03-17	2007-07-23	2007-07-23	ENSG00000189064	ENSG00000189064			4099	protein-coding gene	gene with protein product	"cancer/testis antigen family 4, member 2"	300720	"G antigen 2"	GAGE2		7544395	Standard	NM_001127212		Approved	CT4.2		Q6NT46	OTTHUMG00000024143	ENST00000362097.1:c.175C>G	X.37:g.49355893C>G	ENSP00000355421:p.Gln59Glu						p.Q59E	NM_001127212.1	NP_001120684.1					3	258	+	Ovarian(276;0.236)								Missense_Mutation	SNP	ENST00000362097.1	37	c.175C>G	CCDS48114.1	.	.	.	.	.	.	.	.	.	.	.	0	-2.861266	0.00064	.	.	ENSG00000189064	ENST00000362097	T	0.05447	3.44	0.869	-1.69	0.08186	.	.	.	.	.	T	0.00815	0.0027	N	0.00035	-2.545	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.34104	-0.9842	8	0.02654	T	1	.	3.0546	0.06180	0.33:0.2512:0.4188:0.0	.	59	Q6NT46	GAG2A_HUMAN	E	59	ENSP00000355421:Q59E	ENSP00000355421:Q59E	Q	+	1	0	GAGE2A	49242837	0.000000	0.05858	0.000000	0.03702	0.051000	0.14879	-1.119000	0.03276	-1.599000	0.01605	-0.870000	0.02990	CAG		0.562	GAGE2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060827.3			5	668	0	0	0	1	0	5	668					G	49355893	C	G	49355893	3	3	283	1	0	0	0	0	1	0	0	0	6190	479	17	5	1282	5	GAGE2A	23	49355893	Missense_Mutation	SNP	C	TCGA-J4-AATZ-01A-11D-A41K-08	34494084	49355893	105914667	49	13052											
ZCCHC12	170261	broad.mit.edu	37	chrX	117959898	117959898	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atgcttttattaaacggaagCgtccaaaaaggtctgagtca	14	11	9	7	2	2	1	1	1	1	0	3	2	3	2	1	2	3	1	1	2	6	3			TCGA-J4-AATZ-01A-11D-A41K-08	TCGA-J4-AATZ-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e172e5-0c3a-46a6-9a66-78f0c77d8f7f	5d6e5f5b-51e4-47f3-835d-ea897c775d3a	g.chrX:117959898C>T	ENST00000310164.2	+	4	1198	c.691C>T	c.(691-693)Cgt>Tgt	p.R231C		NM_173798.2	NP_776159.1	Q6PEW1	ZCH12_HUMAN	zinc finger, CCHC domain containing 12	231					BMP signaling pathway (GO:0030509)|transcription, DNA-templated (GO:0006351)	nuclear speck (GO:0016607)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(2)	22						TAAACGGAAGCGTCCAAAAAG	0.498																																						ENST00000310164.2																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(2)	22						c.(691-693)Cgt>Tgt		zinc finger, CCHC domain containing 12							62	54	56					X																	117959898		2203	4300	6503	SO:0001583	missense	170261				regulation of transcription, DNA-dependent|transcription, DNA-dependent		nucleic acid binding|zinc ion binding	g.chrX:117959898C>T	AK122676	CCDS14574.1	Xq24	2013-10-11			ENSG00000174460	ENSG00000174460		"Zinc fingers, CCHC domain containing", "Paraneoplastic Ma antigens"	27273	protein-coding gene	gene with protein product	"paraneoplastic Ma antigen family member 7A"	300701				21739307, 19578717	Standard	NM_173798		Approved	FLJ16123, SIZN, SIZN1, PNMA7A	uc004equ.3	Q6PEW1	OTTHUMG00000022261	ENST00000310164.2:c.691C>T	X.37:g.117959898C>T	ENSP00000308921:p.Arg231Cys						p.R231C	NM_173798.2	NP_776159.1	Q6PEW1	ZCH12_HUMAN			4	1198	+			231					B3KV48|Q6PID5|Q8N1C1	Missense_Mutation	SNP	ENST00000310164.2	37	c.691C>T	CCDS14574.1	.	.	.	.	.	.	.	.	.	.	C	7.376	0.627822	0.14257	.	.	ENSG00000174460	ENST00000310164	T	0.42900	0.96	2.96	2.07	0.26955	.	.	.	.	.	T	0.54240	0.1846	M	0.78223	2.4	0.21553	N	0.999649	D	0.71674	0.998	P	0.56474	0.799	T	0.42430	-0.9452	9	0.66056	D	0.02	-8.8531	6.4553	0.21926	0.2891:0.7109:0.0:0.0	.	231	Q6PEW1	ZCH12_HUMAN	C	231	ENSP00000308921:R231C	ENSP00000308921:R231C	R	+	1	0	ZCCHC12	117843926	1.000000	0.71417	0.248000	0.24265	0.020000	0.10135	0.929000	0.28844	0.626000	0.30322	-0.242000	0.12053	CGT		0.498	ZCCHC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058014.1	NM_173798		4	15	0	0	0	1	0	4	15					T	117959898	C	T	117959898	3	4	283	1	0	0	0	0	1	0	0	0	17578	768	27	1	693	1	ZCCHC12	23	117959898	Missense_Mutation	SNP	C	TCGA-J4-AATZ-01A-11D-A41K-08	68604005	117959898	37310662	50	13053											
OR6N2	81442	broad.mit.edu	37	chr1	158747186	158747186	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgagaatattagacaacatCttagggatagtggtagctgt	13	12	11	5	0	1	2	0	1	1	2	1	4	1	3	0	2	2	2	0	2	7	5			TCGA-J4-AAU2-01A-11D-A41K-08	TCGA-J4-AAU2-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b340dd39-ff48-4c98-82af-93c100df68eb	845e0bb4-122b-47a9-b106-a8e658bec473	g.chr1:158747186C>A	ENST00000339258.1	-	1	239	c.240G>T	c.(238-240)aaG>aaT	p.K80N		NM_001005278.1	NP_001005278.1	Q8NGY6	OR6N2_HUMAN	olfactory receptor, family 6, subfamily N, member 2	80						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|large_intestine(6)|lung(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_hematologic(112;0.0378)					TAGACAACATCTTAGGGATAG	0.458																																						ENST00000339258.1																			0				endometrium(3)|large_intestine(6)|lung(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						c.(238-240)aaG>aaT		olfactory receptor, family 6, subfamily N, member 2							157	150	153					1																	158747186		2203	4300	6503	SO:0001583	missense	81442				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158747186C>A	BK004200	CCDS30906.1	1q23.1	2012-08-09			ENSG00000188340	ENSG00000188340		"GPCR / Class A : Olfactory receptors"	15035	protein-coding gene	gene with protein product							Standard	NM_001005278		Approved		uc010pir.2	Q8NGY6	OTTHUMG00000022775	ENST00000339258.1:c.240G>T	1.37:g.158747186C>A	ENSP00000344101:p.Lys80Asn						p.K80N	NM_001005278.1	NP_001005278.1	Q8NGY6	OR6N2_HUMAN			1	239	-	all_hematologic(112;0.0378)		80					Q6IFR2	Missense_Mutation	SNP	ENST00000339258.1	37	c.240G>T	CCDS30906.1	.	.	.	.	.	.	.	.	.	.	C	13.20	2.166648	0.38217	.	.	ENSG00000188340	ENST00000339258	T	0.03330	3.97	5.17	1.17	0.20885	GPCR, rhodopsin-like superfamily (1);	0.000000	0.40144	N	0.001174	T	0.02688	0.0081	M	0.73372	2.23	0.29382	N	0.863215	D	0.67145	0.996	P	0.56434	0.798	T	0.33033	-0.9884	10	0.20046	T	0.44	-10.8782	2.1292	0.03746	0.1365:0.5027:0.1327:0.228	.	80	Q8NGY6	OR6N2_HUMAN	N	80	ENSP00000344101:K80N	ENSP00000344101:K80N	K	-	3	2	OR6N2	157013810	0.000000	0.05858	0.996000	0.52242	0.908000	0.53690	-2.966000	0.00670	0.060000	0.16281	0.650000	0.86243	AAG		0.458	OR6N2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059068.1			9	80	1	0	0.00621372	1	0.00660207	9	80					A	158747186	C	A	158747186	3	1	284	1	0	0	0	0	1	0	0	0	11207	912	32	5	716	5	OR6N2	1	158747186	Missense_Mutation	SNP	C	TCGA-J4-AAU2-01A-11D-A41K-08		158747186	90503435	1	13054											
F5	2153	broad.mit.edu	37	chr1	169493105	169493105	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccaagcattataagatccAccattgtttaatcttgctaa	13	14	4	10	0	1	1	0	0	1	1	3	1	3	1	3	0	2	3	3	0	5	7			TCGA-J4-AAU2-01A-11D-A41K-08	TCGA-J4-AAU2-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b340dd39-ff48-4c98-82af-93c100df68eb	845e0bb4-122b-47a9-b106-a8e658bec473	g.chr1:169493105A>T	ENST00000367797.3	-	20	6027	c.5826T>A	c.(5824-5826)ggT>ggA	p.G1942G	F5_ENST00000367796.3_Silent_p.G1947G	NM_000130.4	NP_000121	P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	1942	F5/8 type C 1. {ECO:0000255|PROSITE- ProRule:PRU00081}.				blood circulation (GO:0008015)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)|vesicle (GO:0031982)	copper ion binding (GO:0005507)			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				ART-123(DB05777)|Drotrecogin alfa(DB00055)	TATAAGATCCACCATTGTTTA	0.348																																						ENST00000367796.3																			0				NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128						c.(5839-5841)ggT>ggA		coagulation factor V (proaccelerin, labile factor)	Drotrecogin alfa(DB00055)						134	146	142					1																	169493105		2203	4300	6503	SO:0001819	synonymous_variant	2153				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity	g.chr1:169493105A>T	M14335	CCDS1281.1	1q23	2012-10-02			ENSG00000198734	ENSG00000198734			3542	protein-coding gene	gene with protein product		612309					Standard	NM_000130		Approved		uc001ggg.1	P12259	OTTHUMG00000034595	ENST00000367797.3:c.5826T>A	1.37:g.169493105A>T						F5_ENST00000367797.3_Silent_p.G1942G	p.G1947G			P12259	FA5_HUMAN			20	6042	-	all_hematologic(923;0.208)		1942			F5/8 type C 1.		A8K6E8|Q14285|Q2EHR5|Q5R346|Q5R347|Q6UPU6|Q8WWQ6	Silent	SNP	ENST00000367797.3	37	c.5841T>A	CCDS1281.1																																																																																				0.348	F5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000083712.1	NM_000130		5	106	0	0	0	1	0	5	106					T	169493105	A	T	169493105	2	4	284	1	0	0	0	0	0	0	0	1	5348	146	6	5		5	F5	1	169493105	Silent	SNP	A	TCGA-J4-AAU2-01A-11D-A41K-08	10745919	169493105	79757516	2	13055											
SPTBN1	6711	broad.mit.edu	37	chr2	54856829	54856829	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggacactctggccctgtacaAgatgttcagcgaggctgatg	9	9	13	10	1	2	2	1	1	1	1	2	4	2	3	1	3	2	3	1	3	2	2			TCGA-J4-AAU2-01A-11D-A41K-08	TCGA-J4-AAU2-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b340dd39-ff48-4c98-82af-93c100df68eb	845e0bb4-122b-47a9-b106-a8e658bec473	g.chr2:54856829A>G	ENST00000356805.4	+	14	2839	c.2558A>G	c.(2557-2559)aAg>aGg	p.K853R	SPTBN1_ENST00000333896.5_Missense_Mutation_p.K840R	NM_003128.2	NP_003119.2	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1	853					actin filament capping (GO:0051693)|axon guidance (GO:0007411)|Golgi to plasma membrane protein transport (GO:0043001)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|plasma membrane organization (GO:0007009)|protein targeting to plasma membrane (GO:0072661)	axolemma (GO:0030673)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|protein complex (GO:0043234)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin binding (GO:0003779)|ankyrin binding (GO:0030506)|phospholipid binding (GO:0005543)|poly(A) RNA binding (GO:0044822)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	82			Lung(47;0.24)			GCCCTGTACAAGATGTTCAGC	0.602																																						ENST00000333896.5																			0				NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	82						c.(2518-2520)aAg>aGg		spectrin, beta, non-erythrocytic 1							36	37	37					2																	54856829		2203	4300	6503	SO:0001583	missense	0				actin filament capping|axon guidance	cytosol|nucleolus|plasma membrane|sarcomere|spectrin	actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton	g.chr2:54856829A>G		CCDS33198.1, CCDS33199.1	2p21	2013-01-10			ENSG00000115306	ENSG00000115306		"Pleckstrin homology (PH) domain containing"	11275	protein-coding gene	gene with protein product		182790					Standard	NM_003128		Approved		uc002rxu.3	Q01082	OTTHUMG00000133746	ENST00000356805.4:c.2558A>G	2.37:g.54856829A>G	ENSP00000349259:p.Lys853Arg					SPTBN1_ENST00000356805.4_Missense_Mutation_p.K853R	p.K840R	NM_178313.2	NP_842565.2	Q01082	SPTB2_HUMAN	Lung(47;0.24)		13	2904	+			853					B2RP63|O60837|Q16057|Q53R99|Q59ER3|Q8IX99	Missense_Mutation	SNP	ENST00000356805.4	37	c.2519A>G	CCDS33198.1	.	.	.	.	.	.	.	.	.	.	A	11.89	1.774824	0.31411	.	.	ENSG00000115306	ENST00000356805;ENST00000333896	T;T	0.51325	0.71;0.71	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	T	0.35595	0.0937	N	0.17594	0.5	0.39430	D	0.967065	B;B	0.14438	0.008;0.01	B;B	0.25405	0.017;0.06	T	0.16928	-1.0386	10	0.29301	T	0.29	.	15.9192	0.79547	1.0:0.0:0.0:0.0	.	840;853	Q01082-3;Q01082	.;SPTB2_HUMAN	R	853;840	ENSP00000349259:K853R;ENSP00000334156:K840R	ENSP00000334156:K840R	K	+	2	0	SPTBN1	54710333	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	7.421000	0.80204	2.179000	0.69175	0.528000	0.53228	AAG		0.602	SPTBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258115.3			3	25	0	0	0	1	0	3	25					G	54856829	A	G	54856829	3	3	284	1	0	0	0	0	1	0	0	0	15118	72	3	4	2721	4	SPTBN1	2	54856829	Missense_Mutation	SNP	A	TCGA-J4-AAU2-01A-11D-A41K-08		54856829	188342544	3	13056											
AFF3	3899	broad.mit.edu	37	chr2	100209989	100209989	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	accactgcccccgttggcagCggcctccttcagcctctgat	5	9	9	18	2	2	1	1	1	1	0	3	1	3	1	6	2	3	2	6	2	0	2	rs148703034		TCGA-J4-AAU2-01A-11D-A41K-08	TCGA-J4-AAU2-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b340dd39-ff48-4c98-82af-93c100df68eb	845e0bb4-122b-47a9-b106-a8e658bec473	g.chr2:100209989C>T	ENST00000409236.2	-	13	2246	c.2134G>A	c.(2134-2136)Gct>Act	p.A712T	AFF3_ENST00000317233.4_Missense_Mutation_p.A712T|AFF3_ENST00000356421.2_Missense_Mutation_p.A737T|AFF3_ENST00000409579.1_Missense_Mutation_p.A737T			P51826	AFF3_HUMAN	AF4/FMR2 family, member 3	712					embryonic hindlimb morphogenesis (GO:0035116)|regulation of transcription, DNA-templated (GO:0006355)|response to tumor necrosis factor (GO:0034612)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)			NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						CCGTTGGCAGCGGCCTCCTTC	0.627													C|||	1	0.000199681	0	0	5008	,	,		14125	0		0.001	False		,,,				2504	0					ENST00000317233.4																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						c.(2134-2136)Gct>Act		AF4/FMR2 family, member 3		C	THR/ALA,THR/ALA	1,4403		0,1,2201	54	58	57		2209,2134	-1.3	0	2	dbSNP_134	57	10,8588		0,10,4289	yes	missense,missense	AFF3	NM_001025108.1,NM_002285.2	58,58	0,11,6490	TT,TC,CC		0.1163,0.0227,0.0846	benign,benign	737/1252,712/1227	100209989	11,12991	2202	4299	6501	SO:0001583	missense	3899				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr2:100209989C>T	U34360	CCDS33258.1, CCDS42723.1	2q11.2-q12	2008-02-05	2005-06-27	2005-06-27	ENSG00000144218	ENSG00000144218			6473	protein-coding gene	gene with protein product		601464	"lymphoid nuclear protein related to AF4"	LAF4		8662235, 8555498	Standard	XM_005263945		Approved	MLLT2-like	uc002taf.3	P51826	OTTHUMG00000153011	ENST00000409236.2:c.2134G>A	2.37:g.100209989C>T	ENSP00000387207:p.Ala712Thr					AFF3_ENST00000409236.1_Missense_Mutation_p.A712T|AFF3_ENST00000356421.2_Missense_Mutation_p.A737T|AFF3_ENST00000409579.1_Missense_Mutation_p.A737T	p.A712T	NM_002285.2	NP_002276.2	P51826	AFF3_HUMAN			14	2369	-			712					B7ZM46|B9EGL9|D3DVI6|Q53RD6|Q53S47|Q53SI6|Q53TB9|Q59F27|Q8IWJ5	Missense_Mutation	SNP	ENST00000409236.2	37	c.2134G>A	CCDS42723.1	2	9.157509157509158E-4	0	0.0	0	0.0	0	0.0	2	0.002638522427440633	C	0.128	-1.116553	0.01799	2.27E-4	0.001163	ENSG00000144218	ENST00000317233;ENST00000356421;ENST00000409579;ENST00000409236;ENST00000433370;ENST00000444786;ENST00000432288	T;T;T;T	0.66099	-0.19;-0.19;-0.19;-0.19	5.17	-1.34	0.09143	.	1.117090	0.06554	N	0.745573	T	0.38134	0.1029	N	0.17474	0.49	0.09310	N	1	B;B;B	0.15930	0.015;0.003;0.003	B;B;B	0.12837	0.008;0.003;0.002	T	0.12708	-1.0537	10	0.12766	T	0.61	.	3.1404	0.06453	0.1107:0.528:0.1074:0.2539	.	865;712;737	B7Z4I6;P51826;P51826-2	.;AFF3_HUMAN;.	T	712;737;737;712;712;865;737	ENSP00000317421:A712T;ENSP00000348793:A737T;ENSP00000386834:A737T;ENSP00000387207:A712T	ENSP00000317421:A712T	A	-	1	0	AFF3	99576421	0.979000	0.34478	0.000000	0.03702	0.125000	0.20455	0.108000	0.15396	-0.659000	0.05359	-0.224000	0.12420	GCT		0.627	AFF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328982.3	NM_002285		21	43	0	0	0	1	0	21	43					T	100209989	C	T	100209989	3	4	284	1	0	0	0	0	1	0	0	0	358	768	27	1	1590	1	AFF3	2	100209989	Missense_Mutation	SNP	C	TCGA-J4-AAU2-01A-11D-A41K-08	45353160	100209989	142989384	4	13057											
EVC2	132884	broad.mit.edu	37	chr4	5691059	5691059	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cgggctgtctgtgcttcactCgacccagacacctagggcag	7	8	12	14	2	2	1	1	0	1	1	3	2	2	1	2	2	1	3	2	2	1	2	rs146658261		TCGA-J4-AAU2-01A-11D-A41K-08	TCGA-J4-AAU2-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b340dd39-ff48-4c98-82af-93c100df68eb	845e0bb4-122b-47a9-b106-a8e658bec473	g.chr4:5691059C>T	ENST00000344408.5	-	5	584	c.531G>A	c.(529-531)tcG>tcA	p.S177S	EVC2_ENST00000344938.1_Silent_p.S177S|EVC2_ENST00000310917.2_Silent_p.S97S	NM_147127.4	NP_667338.3	Q86UK5	LBN_HUMAN	Ellis van Creveld syndrome 2	177					smoothened signaling pathway (GO:0007224)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(2)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(32)|lung(28)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	81						GTGCTTCACTCGACCCAGACA	0.547																																						ENST00000310917.2																			0				NS(2)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(32)|lung(28)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	81						c.(289-291)tcG>tcA		Ellis van Creveld syndrome 2		C	,	1,4405	2.1+/-5.4	0,1,2202	75	63	67		291,531	1.7	0.5	4	dbSNP_134	67	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	EVC2	NM_001166136.1,NM_147127.4	,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,	97/1229,177/1309	5691059	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	132884					integral to membrane		g.chr4:5691059C>T	AB083067	CCDS3382.2, CCDS54718.1	4p16.2-p16.1	2008-08-01	2008-08-01		ENSG00000173040	ENSG00000173040			19747	protein-coding gene	gene with protein product		607261				12136126, 12571802	Standard	NM_147127		Approved	LBN	uc003gij.3	Q86UK5	OTTHUMG00000125493	ENST00000344408.5:c.531G>A	4.37:g.5691059C>T						EVC2_ENST00000344408.5_Silent_p.S177S|EVC2_ENST00000344938.1_Silent_p.S177S	p.S97S	NM_001166136.1	NP_001159608.1	Q86UK5	LBN_HUMAN			5	1022	-			177					Q86YT3|Q86YT4|Q8NG49	Silent	SNP	ENST00000344408.5	37	c.291G>A	CCDS3382.2																																																																																				0.547	EVC2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000289822.2	NM_147127		5	51	0	0	0	1	0	5	51					T	5691059	C	T	5691059	2	4	284	1	0	0	0	0	0	0	0	1	5286	871	31	2		2	EVC2	4	5691059	Silent	SNP	C	TCGA-J4-AAU2-01A-11D-A41K-08		5691059	185463217	5	13058											
EVC	2121	broad.mit.edu	37	chr4	5721043	5721043	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	accccctcggaaactggctcCccatcaaggaggaggaagag	12	4	12	13	1	1	1	1	0	0	1	3	5	2	5	4	5	1	1	4	5	3	0			TCGA-J4-AAU2-01A-11D-A41K-08	TCGA-J4-AAU2-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b340dd39-ff48-4c98-82af-93c100df68eb	845e0bb4-122b-47a9-b106-a8e658bec473	g.chr4:5721043C>A	ENST00000264956.6	+	2	427	c.243C>A	c.(241-243)tcC>tcA	p.S81S	EVC_ENST00000382674.2_Silent_p.S81S|EVC_ENST00000509451.1_Silent_p.S81S	NM_153717.2	NP_714928.1	P57679	EVC_HUMAN	Ellis van Creveld syndrome	81					cartilage development (GO:0051216)|endochondral bone growth (GO:0003416)|muscle organ development (GO:0007517)|positive regulation of smoothened signaling pathway (GO:0045880)|skeletal system development (GO:0001501)|smoothened signaling pathway (GO:0007224)	ciliary basal body (GO:0036064)|cilium (GO:0005929)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|breast(1)|endometrium(2)|large_intestine(10)|lung(11)|ovary(1)|skin(1)|stomach(1)	28		Myeloproliferative disorder(84;0.117)				AAACTGGCTCCCCATCAAGGA	0.498																																						ENST00000382674.2																			0				NS(1)|breast(1)|endometrium(2)|large_intestine(10)|lung(11)|ovary(1)|skin(1)|stomach(1)	28						c.(241-243)tcC>tcA		Ellis van Creveld syndrome							214	209	210					4																	5721043		2203	4300	6503	SO:0001819	synonymous_variant	2121				muscle organ development	integral to membrane		g.chr4:5721043C>A	AF216184	CCDS3383.1	4p16	2008-07-03			ENSG00000072840	ENSG00000072840			3497	protein-coding gene	gene with protein product		604831				10700184	Standard	NM_153717		Approved	DWF-1	uc003gil.1	P57679	OTTHUMG00000090427	ENST00000264956.6:c.243C>A	4.37:g.5721043C>A						EVC_ENST00000509451.1_Silent_p.S81S|EVC_ENST00000264956.6_Silent_p.S81S	p.S81S			P57679	EVC_HUMAN			2	427	+		Myeloproliferative disorder(84;0.117)	81						Silent	SNP	ENST00000264956.6	37	c.243C>A	CCDS3383.1																																																																																				0.498	EVC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206859.1			33	42	1	0	1.45844e-13	1	1.61696e-13	33	42					A	5721043	C	A	5721043	2	1	284	1	0	0	0	0	0	0	0	1	5285	610	22	5		5	EVC	4	5721043	Silent	SNP	C	TCGA-J4-AAU2-01A-11D-A41K-08	29984	5721043	185433233	6	13059											
C4orf41	60684	broad.mit.edu	37	chr4	184595881	184595881	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tacagattggaaaatgccttTtatgaacatgcacagactta	15	12	7	7	0	0	3	0	1	0	2	0	4	0	4	1	1	4	1	1	1	6	5			TCGA-J4-AAU2-01A-11D-A41K-08	TCGA-J4-AAU2-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b340dd39-ff48-4c98-82af-93c100df68eb	845e0bb4-122b-47a9-b106-a8e658bec473	g.chr4:184595881T>C	ENST00000334690.6	+	6	778	c.576T>C	c.(574-576)ttT>ttC	p.F192F	RNU6-335P_ENST00000364563.1_RNA|TRAPPC11_ENST00000511409.1_3'UTR|TRAPPC11_ENST00000357207.4_Silent_p.F192F	NM_021942.5	NP_068761.4	Q7Z392	TPC11_HUMAN	trafficking protein particle complex 11	192					vesicle-mediated transport (GO:0016192)	Golgi apparatus (GO:0005794)											AAAATGCCTTTTATGAACATG	0.299																																						ENST00000334690.6																			0											c.(574-576)ttT>ttC		trafficking protein particle complex 11							55	62	60					4																	184595881		2200	4294	6494	SO:0001819	synonymous_variant	60684							g.chr4:184595881T>C		CCDS34112.1, CCDS47166.1	4q35.1	2011-12-12	2011-12-12	2011-12-12	ENSG00000168538	ENSG00000168538		"Trafficking protein particle complex"	25751	protein-coding gene	gene with protein product	"gryzun homolog (Drosophila)", "foie gras homolog (zebrafish)"	614138	"chromosome 4 open reading frame 41"	C4orf41		19942856, 21525244	Standard	NM_021942		Approved	FLJ12716, gry, foigr	uc003ivx.3	Q7Z392	OTTHUMG00000160673	ENST00000334690.6:c.576T>C	4.37:g.184595881T>C						TRAPPC11_ENST00000511409.1_3'UTR|TRAPPC11_ENST00000357207.4_Silent_p.F192F	p.F192F	NM_021942.5	NP_068761.4	Q7Z392	CD041_HUMAN			6	778	+			192					A4QPB8|B2RCD6|Q5U5I7|Q6FI73|Q86T25|Q9H0L1|Q9H5K9|Q9H8Q1|Q9H9I7	Silent	SNP	ENST00000334690.6	37	c.576T>C	CCDS34112.1																																																																																				0.299	TRAPPC11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361654.2	NM_021942		5	69	0	0	0	1	0	5	69					C	184595881	T	C	184595881	2	2	284	1	0	0	0	0	0	0	0	1	2270	1838	64	4		4	C4orf41	4	184595881	Silent	SNP	T	TCGA-J4-AAU2-01A-11D-A41K-08	178874838	184595881	6558395	7	13060											
MARCH6	10299	broad.mit.edu	37	chr5	10414606	10414606	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgccagcctcatctgccttaCtttaccaggtatgagcttgt	7	14	8	12	0	2	1	1	1	1	0	2	1	2	1	4	1	6	2	4	1	3	5			TCGA-J4-AAU2-01A-11D-A41K-08	TCGA-J4-AAU2-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b340dd39-ff48-4c98-82af-93c100df68eb	845e0bb4-122b-47a9-b106-a8e658bec473	g.chr5:10414606C>G	ENST00000274140.5	+	20	2090	c.1958C>G	c.(1957-1959)aCt>aGt	p.T653S	MARCH6_ENST00000510792.1_Missense_Mutation_p.T351S|MARCH6_ENST00000449913.2_Missense_Mutation_p.T605S|MARCH6_ENST00000503788.1_Missense_Mutation_p.T548S	NM_005885.3	NP_005876.2	O60337	MARH6_HUMAN	membrane-associated ring finger (C3HC4) 6, E3 ubiquitin protein ligase	653					protein K48-linked ubiquitination (GO:0070936)	integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)	enzyme binding (GO:0019899)|ligase activity (GO:0016874)|ubiquitin conjugating enzyme binding (GO:0031624)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(35)|ovary(1)|urinary_tract(3)	54						ATCTGCCTTACTTTACCAGGT	0.383																																						ENST00000274140.5																			0				breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(35)|ovary(1)|urinary_tract(3)	54						c.(1957-1959)aCt>aGt		membrane-associated ring finger (C3HC4) 6, E3 ubiquitin protein ligase							215	189	198					5																	10414606		2203	4300	6503	SO:0001583	missense	10299				protein K48-linked ubiquitination	integral to endoplasmic reticulum membrane	ubiquitin conjugating enzyme binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr5:10414606C>G	AB011169	CCDS34135.1, CCDS59487.1, CCDS59488.1	5p15.2	2013-01-09	2012-02-23		ENSG00000145495	ENSG00000145495		"MARCH membrane-associated ring fingers", "RING-type (C3HC4) zinc fingers"	30550	protein-coding gene	gene with protein product		613297	"membrane-associated ring finger (C3HC4) 6"			14722266	Standard	NM_001270660		Approved	TEB4, MARCH-VI, RNF176	uc003jet.2	O60337	OTTHUMG00000162027	ENST00000274140.5:c.1958C>G	5.37:g.10414606C>G	ENSP00000274140:p.Thr653Ser					MARCH6_ENST00000449913.2_Missense_Mutation_p.T605S|MARCH6_ENST00000510792.1_Missense_Mutation_p.T351S|MARCH6_ENST00000503788.1_Missense_Mutation_p.T548S	p.T653S	NM_005885.2	NP_005876.2	O60337	MARH6_HUMAN			20	2090	+			653					A5PKZ4|B4DKJ2|B4DT33|D3DTC8|O14670|Q86X77	Missense_Mutation	SNP	ENST00000274140.5	37	c.1958C>G	CCDS34135.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.963876	0.74131	.	.	ENSG00000145495	ENST00000449913;ENST00000503788;ENST00000274140;ENST00000510792	T;T;T;T	0.50548	0.74;0.74;0.74;0.74	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	T	0.68796	0.3040	M	0.74389	2.26	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;0.998;0.999	D;D;D;D	0.80764	0.982;0.973;0.994;0.913	T	0.62955	-0.6744	10	0.21014	T	0.42	-23.7602	19.7075	0.96079	0.0:1.0:0.0:0.0	.	548;605;233;653	B4DKJ2;B4DT33;B2RBJ1;O60337	.;.;.;MARH6_HUMAN	S	605;548;653;351	ENSP00000414643:T605S;ENSP00000425930:T548S;ENSP00000274140:T653S;ENSP00000424512:T351S	ENSP00000274140:T653S	T	+	2	0	MARCH6	10467606	1.000000	0.71417	0.957000	0.39632	0.998000	0.95712	5.623000	0.67757	2.643000	0.89663	0.655000	0.94253	ACT		0.383	MARCH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366919.2	NM_005885		6	63	0	0	0	1	0	6	63					G	10414606	C	G	10414606	3	3	284	1	0	0	0	0	1	0	0	0	9305	565	20	5	2036	5	MARCH6	5	10414606	Missense_Mutation	SNP	C	TCGA-J4-AAU2-01A-11D-A41K-08		10414606	170500654	8	13061											
CARD6	84674	broad.mit.edu	37	chr5	40853374	40853374	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tgtgtctgtggaggatatggCcgccctggccagggagctgg	5	9	18	9	1	1	0	0	0	1	0	1	3	1	3	3	6	1	1	3	6	1	1			TCGA-J4-AAU2-01A-11D-A41K-08	TCGA-J4-AAU2-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b340dd39-ff48-4c98-82af-93c100df68eb	845e0bb4-122b-47a9-b106-a8e658bec473	g.chr5:40853374C>T	ENST00000254691.5	+	3	2139	c.1940C>T	c.(1939-1941)gCc>gTc	p.A647V	CARD6_ENST00000381677.3_Intron	NM_032587.3	NP_115976.2	Q9BX69	CARD6_HUMAN	caspase recruitment domain family, member 6	647					apoptotic process (GO:0006915)|regulation of apoptotic process (GO:0042981)					NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(2)|lung(29)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	62						GAGGATATGGCCGCCCTGGCC	0.512																																						ENST00000254691.5																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(2)|lung(29)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	62						c.(1939-1941)gCc>gTc		caspase recruitment domain family, member 6							137	142	140					5																	40853374		2203	4300	6503	SO:0001583	missense	84674				apoptosis|regulation of apoptosis	intracellular		g.chr5:40853374C>T	AF356193	CCDS3935.1	5p13.1	2008-05-23			ENSG00000132357	ENSG00000132357			16394	protein-coding gene	gene with protein product		609986				12775719	Standard	NM_032587		Approved	CINCIN1	uc003jmg.3	Q9BX69	OTTHUMG00000094775	ENST00000254691.5:c.1940C>T	5.37:g.40853374C>T	ENSP00000254691:p.Ala647Val					CARD6_ENST00000381677.3_Intron	p.A647V	NM_032587.3	NP_115976.2	Q9BX69	CARD6_HUMAN			3	2139	+			647					Q52LR2	Missense_Mutation	SNP	ENST00000254691.5	37	c.1940C>T	CCDS3935.1	.	.	.	.	.	.	.	.	.	.	C	17.35	3.368262	0.61513	.	.	ENSG00000132357	ENST00000254691	T	0.25579	1.79	4.65	2.86	0.33363	.	0.125339	0.36338	N	0.002653	T	0.27697	0.0681	M	0.72118	2.19	0.80722	D	1	B	0.32031	0.352	B	0.33960	0.173	T	0.06752	-1.0809	10	0.72032	D	0.01	-3.4957	8.011	0.30353	0.0:0.7366:0.172:0.0914	.	647	Q9BX69	CARD6_HUMAN	V	647	ENSP00000254691:A647V	ENSP00000254691:A647V	A	+	2	0	CARD6	40889131	0.975000	0.34042	0.630000	0.29268	0.928000	0.56348	2.370000	0.44240	0.567000	0.29293	0.561000	0.74099	GCC		0.512	CARD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211584.3			4	108	0	0	0	1	0	4	108					T	40853374	C	T	40853374	3	4	284	1	0	0	0	0	1	0	0	0	2650	739	26	3	1950	3	CARD6	5	40853374	Missense_Mutation	SNP	C	TCGA-J4-AAU2-01A-11D-A41K-08	30438768	40853374	140061886	9	13062											
PRPF4B	8899	broad.mit.edu	37	chr6	4031995	4031995	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ataagaaacacaaaagaaaaGagattattgatgcttctgat	20	10	7	4	0	1	5	0	2	1	3	1	6	1	5	0	0	2	1	0	0	7	4			TCGA-J4-AAU2-01A-11D-A41K-08	TCGA-J4-AAU2-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b340dd39-ff48-4c98-82af-93c100df68eb	845e0bb4-122b-47a9-b106-a8e658bec473	g.chr6:4031995G>C	ENST00000337659.6	+	2	344	c.244G>C	c.(244-246)Gag>Cag	p.E82Q	PRPF4B_ENST00000538861.1_Missense_Mutation_p.E68Q	NM_003913.4	NP_003904.3	Q13523	PRP4B_HUMAN	pre-mRNA processing factor 4B	82	Arg/Lys-rich (basic).				mRNA splicing, via spliceosome (GO:0000398)|protein phosphorylation (GO:0006468)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|chromosome (GO:0005694)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(6)|endometrium(3)|large_intestine(5)|lung(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	22	Ovarian(93;0.0925)	all_hematologic(90;0.0895)				caaaagaaaagaGATTATTGA	0.313																																						ENST00000337659.6																			0				breast(6)|endometrium(3)|large_intestine(5)|lung(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	22						c.(244-246)Gag>Cag		pre-mRNA processing factor 4B							81	73	76					6																	4031995		2203	4300	6503	SO:0001583	missense	8899					catalytic step 2 spliceosome	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr6:4031995G>C	U48736	CCDS4488.1	6p24.2	2013-10-03	2013-10-03		ENSG00000112739	ENSG00000112739			17346	protein-coding gene	gene with protein product		602338	"PRP4 pre-mRNA processing factor 4 homolog B (yeast)"			9628581, 11418604	Standard	XR_241936		Approved	Prp4, PR4H, KIAA0536	uc003mvv.3	Q13523	OTTHUMG00000014157	ENST00000337659.6:c.244G>C	6.37:g.4031995G>C	ENSP00000337194:p.Glu82Gln					PRPF4B_ENST00000538861.1_Missense_Mutation_p.E68Q	p.E82Q	NM_003913.4	NP_003904.3	Q13523	PRP4B_HUMAN			2	344	+	Ovarian(93;0.0925)	all_hematologic(90;0.0895)	82			Arg/Lys-rich (basic).		A8K5C9|Q5D0F6|Q5TAY8|Q8IVC3|Q8TDP2|Q96QT7|Q9UEE6	Missense_Mutation	SNP	ENST00000337659.6	37	c.244G>C	CCDS4488.1	.	.	.	.	.	.	.	.	.	.	G	16.16	3.044313	0.55110	.	.	ENSG00000112739	ENST00000337659;ENST00000538861	T;T	0.69561	-0.39;-0.41	5.4	5.4	0.78164	.	0.154588	0.44483	N	0.000451	T	0.68091	0.2963	L	0.29908	0.895	0.45762	D	0.998653	D	0.63880	0.993	D	0.70227	0.968	T	0.72874	-0.4160	10	0.72032	D	0.01	.	17.3614	0.87351	0.0:0.0:1.0:0.0	.	82	Q13523	PRP4B_HUMAN	Q	82;68	ENSP00000337194:E82Q;ENSP00000439331:E68Q	ENSP00000337194:E82Q	E	+	1	0	PRPF4B	3976994	1.000000	0.71417	0.977000	0.42913	0.662000	0.39071	9.390000	0.97246	2.511000	0.84671	0.462000	0.41574	GAG		0.313	PRPF4B-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314018.2			4	52	0	0	0	1	0	4	52					C	4031995	G	C	4031995	3	2	284	1	0	0	0	0	1	0	0	0	12573	943	33	5	250	5	PRPF4B	6	4031995	Missense_Mutation	SNP	G	TCGA-J4-AAU2-01A-11D-A41K-08		4031995	167083072	10	13063											
KIAA0776	23376	broad.mit.edu	37	chr6	97000410	97000410	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctgaacagctaaaggtcacaGaagaccctgctcttattctg	12	10	8	11	0	3	3	1	1	2	2	3	3	3	3	1	1	3	2	1	1	5	3			TCGA-J4-AAU2-01A-11D-A41K-08	TCGA-J4-AAU2-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b340dd39-ff48-4c98-82af-93c100df68eb	845e0bb4-122b-47a9-b106-a8e658bec473	g.chr6:97000410G>A	ENST00000369278.4	+	18	2104	c.2038G>A	c.(2038-2040)Gaa>Aaa	p.E680K		NM_015323.4	NP_056138.1	O94874	UFL1_HUMAN	UFM1-specific ligase 1	680					negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein ubiquitination (GO:0031397)|osteoblast differentiation (GO:0001649)|protein ufmylation (GO:0071569)|regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032434)|response to endoplasmic reticulum stress (GO:0034976)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleus (GO:0005634)	UFM1 conjugating enzyme activity (GO:0071568)										AAAGGTCACAGAAGACCCTGC	0.408																																						ENST00000369278.4																			0											c.(2038-2040)Gaa>Aaa		UFM1-specific ligase 1							160	122	135					6																	97000410		2203	4300	6503	SO:0001583	missense	23376				negative regulation of NF-kappaB transcription factor activity|negative regulation of protein ubiquitination|protein ufmylation	endoplasmic reticulum|nucleus	protein binding|UFM1 conjugating enzyme activity	g.chr6:97000410G>A	BC036379	CCDS5034.1	6q16.3	2011-08-18	2011-08-18	2011-08-18	ENSG00000014123	ENSG00000014123			23039	protein-coding gene	gene with protein product	"novel LZAP-binding protein", "Regulator of CDK5RAP3 and DDRGK1"	613372	"KIAA0776"	KIAA0776		20018847, 20164180, 20228063, 20531390	Standard	NM_015323		Approved	NLBP, Maxer, RCAD	uc003por.3	O94874	OTTHUMG00000015238	ENST00000369278.4:c.2038G>A	6.37:g.97000410G>A	ENSP00000358283:p.Glu680Lys						p.E680K	NM_015323.4	NP_056138.1	O94874	UFL1_HUMAN			18	2104	+			680					A0PJ53|B4DJ57|C0H5X5|Q8N765|Q9NTQ0	Missense_Mutation	SNP	ENST00000369278.4	37	c.2038G>A	CCDS5034.1	.	.	.	.	.	.	.	.	.	.	G	31	5.097217	0.94197	.	.	ENSG00000014123	ENST00000369278	T	0.42900	0.96	5.47	5.47	0.80525	.	0.086792	0.85682	D	0.000000	T	0.43188	0.1236	M	0.63843	1.955	0.80722	D	1	D	0.67145	0.996	P	0.57204	0.815	T	0.30909	-0.9962	10	0.07644	T	0.81	-21.328	19.6893	0.95993	0.0:0.0:1.0:0.0	.	680	O94874	UFL1_HUMAN	K	680	ENSP00000358283:E680K	ENSP00000358283:E680K	E	+	1	0	KIAA0776	97107131	1.000000	0.71417	1.000000	0.80357	0.888000	0.51559	9.140000	0.94607	2.729000	0.93468	0.655000	0.94253	GAA		0.408	UFL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041557.1	NM_015323		16	31	0	0	0	1	0	16	31					A	97000410	G	A	97000410	3	1	284	1	0	0	0	0	1	0	0	0	8193	943	33	3	2108	3	KIAA0776	6	97000410	Missense_Mutation	SNP	G	TCGA-J4-AAU2-01A-11D-A41K-08	92968415	97000410	74114657	11	13064											
C7orf42	55069	broad.mit.edu	37	chr7	66410195	66410195	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acccttcggagggtattcccGcaacgtcacccatctgtact	8	10	8	15	3	2	0	1	0	1	0	4	1	3	1	3	2	2	3	3	2	3	4	rs374932648		TCGA-J4-AAU2-01A-11D-A41K-08	TCGA-J4-AAU2-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b340dd39-ff48-4c98-82af-93c100df68eb	845e0bb4-122b-47a9-b106-a8e658bec473	g.chr7:66410195G>A	ENST00000341567.4	+	3	647	c.392G>A	c.(391-393)cGc>cAc	p.R131H		NM_017994.4	NP_060464.1	Q9NWD8	TM248_HUMAN	transmembrane protein 248	131						integral component of membrane (GO:0016021)											GGGTATTCCCGCAACGTCACC	0.557																																						ENST00000341567.4																			0											c.(391-393)cGc>cAc		transmembrane protein 248		G	HIS/ARG	0,4406		0,0,2203	103	101	101		392	5.8	1	7		101	1,8599	1.2+/-3.3	0,1,4299	no	missense	C7orf42	NM_017994.4	29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	131/315	66410195	1,13005	2203	4300	6503	SO:0001583	missense	55069							g.chr7:66410195G>A		CCDS5536.1	7q11.21	2012-05-30	2012-05-30	2012-05-30	ENSG00000106609	ENSG00000106609			25476	protein-coding gene	gene with protein product			"chromosome 7 open reading frame 42"	C7orf42		12477932	Standard	XM_005250482		Approved	FLJ10099, FLJ13090	uc003tvk.3	Q9NWD8	OTTHUMG00000129553	ENST00000341567.4:c.392G>A	7.37:g.66410195G>A	ENSP00000340668:p.Arg131His						p.R131H	NM_017994.4	NP_060464.1					3	647	+								Q53H07|Q96FR2	Missense_Mutation	SNP	ENST00000341567.4	37	c.392G>A	CCDS5536.1	.	.	.	.	.	.	.	.	.	.	G	16.25	3.069252	0.55539	0.0	1.16E-4	ENSG00000106609	ENST00000341567;ENST00000424964	.	.	.	5.79	5.79	0.91817	.	0.000000	0.85682	D	0.000000	T	0.49915	0.1585	N	0.20986	0.625	0.80722	D	1	B	0.23891	0.093	B	0.16722	0.016	T	0.40079	-0.9582	9	0.20519	T	0.43	-10.4256	19.0145	0.92888	0.0:0.0:1.0:0.0	.	131	Q9NWD8	CG042_HUMAN	H	131	.	ENSP00000340668:R131H	R	+	2	0	C7orf42	66047630	1.000000	0.71417	0.974000	0.42286	0.581000	0.36288	9.394000	0.97261	2.735000	0.93741	0.655000	0.94253	CGC		0.557	TMEM248-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251745.2	NM_017994		3	63	0	0	0	1	0	3	63					A	66410195	G	A	66410195	3	1	284	1	0	0	0	0	1	0	0	0	2392	1087	38	1	398	1	C7orf42	7	66410195	Missense_Mutation	SNP	G	TCGA-J4-AAU2-01A-11D-A41K-08		66410195	92728468	12	13065											
MLL3	58508	broad.mit.edu	37	chr7	151879016	151879016	+	Frame_Shift_Del	DEL	G	G	-																															gcccaaggatttgggaaattGatctgtcatcacaggcctag																										TCGA-J4-AAU2-01A-11D-A41K-08	TCGA-J4-AAU2-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b340dd39-ff48-4c98-82af-93c100df68eb	845e0bb4-122b-47a9-b106-a8e658bec473	g.chr7:151879016delG	ENST00000262189.6	-	36	6147	c.5929delC	c.(5929-5931)caafs	p.Q1977fs	KMT2C_ENST00000355193.2_Frame_Shift_Del_p.Q1977fs	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	1977	Pro-rich.				histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										TTGGGAAATTGATCTGTCATC	0.458																																						ENST00000355193.2																			0											c.(5929-5931)aafs		lysine (K)-specific methyltransferase 2C							215	223	220					7																	151879016		2203	4300	6503	SO:0001589	frameshift_variant	58508							g.chr7:151879016delG	AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	13726	protein-coding gene	gene with protein product		606833	"myeloid/lymphoid or mixed-lineage leukemia 3"	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.5929delC	7.37:g.151879016delG	ENSP00000262189:p.Gln1977fs					KMT2C_ENST00000262189.6_Frame_Shift_Del_p.Q1977fs	p.Q1977fs							36	6147	-								Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Frame_Shift_Del	DEL	ENST00000262189.6	37	c.5929delC	CCDS5931.1																																																																																				0.458	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3			96	117						96	117	---	---	---	---	-	151879016	G	-	151879016	7	5	284	1	0	1	0	1	0	0	0	0	9622	1299	45	0	8902	0	MLL3	7	151879016	Frame_Shift_Del	DEL	G	TCGA-J4-AAU2-01A-11D-A41K-08	85468821	151879016	7259647	13	13066											
CSMD1	64478	broad.mit.edu	37	chr8	3855453	3855453	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggagcttccgtgccactgaTctctaagaaatcatatcctt	10	13	7	11	1	2	2	1	1	1	1	5	3	4	3	3	1	2	1	3	1	3	4			TCGA-J4-AAU2-01A-11D-A41K-08	TCGA-J4-AAU2-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b340dd39-ff48-4c98-82af-93c100df68eb	845e0bb4-122b-47a9-b106-a8e658bec473	g.chr8:3855453T>A	ENST00000520002.1	-	5	1345	c.790A>T	c.(790-792)Atc>Ttc	p.I264F	CSMD1_ENST00000539096.1_Missense_Mutation_p.I264F|CSMD1_ENST00000602723.1_Missense_Mutation_p.I264F|CSMD1_ENST00000400186.3_Missense_Mutation_p.I264F|CSMD1_ENST00000542608.1_Missense_Mutation_p.I264F|CSMD1_ENST00000602557.1_Missense_Mutation_p.I264F|CSMD1_ENST00000537824.1_Missense_Mutation_p.I264F			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	264	CUB 2. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		GTGCCACTGATCTCTAAGAAA	0.517																																						ENST00000520002.1																			0				breast(20)|large_intestine(5)	25						c.(790-792)Atc>Ttc		CUB and Sushi multiple domains 1							54	56	55					8																	3855453		2039	4219	6258	SO:0001583	missense	64478					integral to membrane		g.chr8:3855453T>A			8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	14026	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 24"	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.790A>T	8.37:g.3855453T>A	ENSP00000430733:p.Ile264Phe					CSMD1_ENST00000539096.1_Missense_Mutation_p.I264F|CSMD1_ENST00000602557.1_Missense_Mutation_p.I264F|CSMD1_ENST00000542608.1_Missense_Mutation_p.I264F|CSMD1_ENST00000400186.3_Missense_Mutation_p.I264F|CSMD1_ENST00000537824.1_Missense_Mutation_p.I264F|CSMD1_ENST00000602723.1_Missense_Mutation_p.I264F	p.I264F			Q96PZ7	CSMD1_HUMAN		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)	5	1345	-		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)	264			CUB 2.		Q0H0J5|Q96QU9|Q96RM4	Missense_Mutation	SNP	ENST00000520002.1	37	c.790A>T		.	.	.	.	.	.	.	.	.	.	T	18.55	3.647623	0.67358	.	.	ENSG00000183117	ENST00000400186;ENST00000520002;ENST00000318252;ENST00000537824;ENST00000542608;ENST00000539096	T;T;T;T;T	0.37915	1.17;1.17;1.17;1.17;1.17	5.54	5.54	0.83059	.	0.000000	0.26556	U	0.023713	T	0.58595	0.2133	M	0.86343	2.81	0.43517	D	0.995786	D	0.58970	0.984	P	0.55303	0.773	T	0.64884	-0.6302	10	0.46703	T	0.11	-26.394	14.8615	0.70384	0.0:0.0:0.0:1.0	.	264	E5RIG2	.	F	264;264;126;264;264;264	ENSP00000383047:I264F;ENSP00000430733:I264F;ENSP00000441462:I264F;ENSP00000446243:I264F;ENSP00000441675:I264F	ENSP00000320445:I126F	I	-	1	0	CSMD1	3842861	1.000000	0.71417	1.000000	0.80357	0.682000	0.39822	4.098000	0.57748	2.101000	0.63845	0.460000	0.39030	ATC		0.517	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000374500.2	NM_033225		6	13	0	0	0	1	0	6	13					A	3855453	T	A	3855453	3	1	284	1	0	0	0	0	1	0	0	0	3944	1435	50	5	9981	5	CSMD1	8	3855453	Missense_Mutation	SNP	T	TCGA-J4-AAU2-01A-11D-A41K-08		3855453	142508569	14	13067			1	32		2	2	44	N	T_G	5.417088e-05
CSMD1	64478	broad.mit.edu	37	chr8	3855496	3855496	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tctagctgaaagtcagtgaaGaccagcgcaatggtgtcccc	11	8	11	11	1	2	3	1	2	1	1	3	3	3	3	3	1	2	2	3	1	4	1			TCGA-J4-AAU2-01A-11D-A41K-08	TCGA-J4-AAU2-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b340dd39-ff48-4c98-82af-93c100df68eb	845e0bb4-122b-47a9-b106-a8e658bec473	g.chr8:3855496G>A	ENST00000520002.1	-	5	1302	c.747C>T	c.(745-747)gtC>gtT	p.V249V	CSMD1_ENST00000539096.1_Silent_p.V249V|CSMD1_ENST00000602723.1_Silent_p.V249V|CSMD1_ENST00000400186.3_Silent_p.V249V|CSMD1_ENST00000542608.1_Silent_p.V249V|CSMD1_ENST00000602557.1_Silent_p.V249V|CSMD1_ENST00000537824.1_Silent_p.V249V			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	249	CUB 2. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		AGTCAGTGAAGACCAGCGCAA	0.542																																						ENST00000520002.1																			0				breast(20)|large_intestine(5)	25						c.(745-747)gtC>gtT		CUB and Sushi multiple domains 1							54	57	56					8																	3855496		2102	4264	6366	SO:0001819	synonymous_variant	64478					integral to membrane		g.chr8:3855496G>A			8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	14026	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 24"	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.747C>T	8.37:g.3855496G>A						CSMD1_ENST00000539096.1_Silent_p.V249V|CSMD1_ENST00000602557.1_Silent_p.V249V|CSMD1_ENST00000542608.1_Silent_p.V249V|CSMD1_ENST00000400186.3_Silent_p.V249V|CSMD1_ENST00000537824.1_Silent_p.V249V|CSMD1_ENST00000602723.1_Silent_p.V249V	p.V249V			Q96PZ7	CSMD1_HUMAN		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)	5	1302	-		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)	249			CUB 2.		Q0H0J5|Q96QU9|Q96RM4	Silent	SNP	ENST00000520002.1	37	c.747C>T																																																																																					0.542	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000374500.2	NM_033225		7	9	0	0	0	1	0	7	9					A	3855496	G	A	3855496	2	1	284	1	0	0	0	0	0	0	0	1	3944	929	33	3		3	CSMD1	8	3855496	Silent	SNP	G	TCGA-J4-AAU2-01A-11D-A41K-08	43	3855496	142508526	15	13068			1	32		2	2	44	N	T_G	5.417088e-05
WHSC1L1	54904	broad.mit.edu	37	chr8	38173511	38173511	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atttctacatcagttgaggcGcgactccttttctttagagg	8	15	9	9	2	3	2	1	1	2	1	4	3	4	2	1	2	1	1	1	2	2	7			TCGA-J4-AAU2-01A-11D-A41K-08	TCGA-J4-AAU2-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b340dd39-ff48-4c98-82af-93c100df68eb	845e0bb4-122b-47a9-b106-a8e658bec473	g.chr8:38173511G>A	ENST00000317025.8	-	10	2422	c.1905C>T	c.(1903-1905)cgC>cgT	p.R635R	WHSC1L1_ENST00000525081.1_5'Flank|WHSC1L1_ENST00000433384.2_Silent_p.R635R|WHSC1L1_ENST00000527502.1_Silent_p.R635R	NM_023034.1	NP_075447.1	Q9BZ95	NSD3_HUMAN	Wolf-Hirschhorn syndrome candidate 1-like 1	635					histone lysine methylation (GO:0034968)|histone methylation (GO:0016571)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	24	Colorectal(12;0.000442)|Esophageal squamous(3;0.0725)	all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.065)	Epithelial(3;3.12e-43)|all cancers(3;1.72e-38)|BRCA - Breast invasive adenocarcinoma(5;2.84e-27)|LUSC - Lung squamous cell carcinoma(2;2.79e-25)|Lung(2;5.03e-23)|COAD - Colon adenocarcinoma(9;0.0511)			CAGTTGAGGCGCGACTCCTTT	0.408			T	NUP98	AML																																	ENST00000317025.8				Dom	yes		8	8p12	54904	T	Wolf-Hirschhorn syndrome candidate 1-like 1 (NSD3)			L	NUP98		AML		0				NS(1)|breast(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	24						c.(1903-1905)cgC>cgT		Wolf-Hirschhorn syndrome candidate 1-like 1							133	127	129					8																	38173511		2057	4209	6266	SO:0001819	synonymous_variant	54904				cell differentiation|cell growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome	histone-lysine N-methyltransferase activity|zinc ion binding	g.chr8:38173511G>A	AF332469	CCDS6105.1, CCDS43729.1	8p11.2	2013-05-20			ENSG00000147548	ENSG00000147548			12767	protein-coding gene	gene with protein product		607083				10802047, 23269674	Standard	NM_023034		Approved	FLJ20353, NSD3	uc003xli.3	Q9BZ95		ENST00000317025.8:c.1905C>T	8.37:g.38173511G>A						WHSC1L1_ENST00000527502.1_Silent_p.R635R|WHSC1L1_ENST00000433384.2_Silent_p.R635R	p.R635R	NM_023034.1	NP_075447.1	Q9BZ95	NSD3_HUMAN	Epithelial(3;3.12e-43)|all cancers(3;1.72e-38)|BRCA - Breast invasive adenocarcinoma(5;2.84e-27)|LUSC - Lung squamous cell carcinoma(2;2.79e-25)|Lung(2;5.03e-23)|COAD - Colon adenocarcinoma(9;0.0511)		10	2422	-	Colorectal(12;0.000442)|Esophageal squamous(3;0.0725)	all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.065)	635					B7ZL11|D3DSX1|Q1RMD3|Q3B796|Q6ZSA5|Q9BYU8|Q9BYU9|Q9H2M8|Q9H9W9|Q9NXA6	Silent	SNP	ENST00000317025.8	37	c.1905C>T	CCDS43729.1																																																																																				0.408	WHSC1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381924.3	NM_023034		13	65	0	0	0	1	0	13	65					A	38173511	G	A	38173511	2	1	284	1	0	0	0	0	0	0	0	1	17360	1074	38	1		1	WHSC1L1	8	38173511	Silent	SNP	G	TCGA-J4-AAU2-01A-11D-A41K-08	34318015	38173511	108190511	16	13069											
LYN	4067	broad.mit.edu	37	chr8	56864542	56864542	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taggaagcttctctctgtctGtcagagactttgaccctgtg	7	14	10	10	0	4	2	1	1	3	1	5	4	4	3	1	1	1	1	1	1	2	3			TCGA-J4-AAU2-01A-11D-A41K-08	TCGA-J4-AAU2-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b340dd39-ff48-4c98-82af-93c100df68eb	845e0bb4-122b-47a9-b106-a8e658bec473	g.chr8:56864542G>A	ENST00000519728.1	+	7	801	c.505G>A	c.(505-507)Gtc>Atc	p.V169I	LYN_ENST00000520220.2_Missense_Mutation_p.V148I	NM_002350.3	NP_002341.1	P07948	LYN_HUMAN	LYN proto-oncogene, Src family tyrosine kinase	169	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				B cell homeostasis (GO:0001782)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to extracellular stimulus (GO:0031668)|cellular response to heat (GO:0034605)|cellular response to retinoic acid (GO:0071300)|cytokine secretion (GO:0050663)|dendritic cell differentiation (GO:0097028)|erythrocyte differentiation (GO:0030218)|Fc receptor mediated inhibitory signaling pathway (GO:0002774)|Fc receptor mediated stimulatory signaling pathway (GO:0002431)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|histamine secretion by mast cell (GO:0002553)|immune response-regulating cell surface receptor signaling pathway (GO:0002768)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|leukocyte migration (GO:0050900)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of cell proliferation (GO:0008285)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of immune response (GO:0050777)|negative regulation of intracellular signal transduction (GO:1902532)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of mast cell proliferation (GO:0070667)|negative regulation of myeloid leukocyte differentiation (GO:0002762)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of toll-like receptor 2 signaling pathway (GO:0034136)|negative regulation of toll-like receptor 4 signaling pathway (GO:0034144)|neuron projection development (GO:0031175)|oligodendrocyte development (GO:0014003)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of B cell receptor signaling pathway (GO:0050861)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cellular component movement (GO:0051272)|positive regulation of dendritic cell apoptotic process (GO:2000670)|positive regulation of Fc receptor mediated stimulatory signaling pathway (GO:0060369)|positive regulation of glial cell proliferation (GO:0060252)|positive regulation of mast cell proliferation (GO:0070668)|positive regulation of neuron projection development (GO:0010976)|positive regulation of oligodendrocyte progenitor proliferation (GO:0070447)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of stress-activated protein kinase signaling cascade (GO:0070304)|positive regulation of tyrosine phosphorylation of STAT protein (GO:0042531)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of B cell apoptotic process (GO:0002902)|regulation of B cell receptor signaling pathway (GO:0050855)|regulation of cell adhesion mediated by integrin (GO:0033628)|regulation of cytokine production (GO:0001817)|regulation of cytokine secretion (GO:0050707)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of erythrocyte differentiation (GO:0045646)|regulation of inflammatory response (GO:0050727)|regulation of mast cell activation (GO:0033003)|regulation of mast cell degranulation (GO:0043304)|regulation of monocyte chemotaxis (GO:0090025)|regulation of platelet aggregation (GO:0090330)|regulation of protein phosphorylation (GO:0001932)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|response to amino acid (GO:0043200)|response to axon injury (GO:0048678)|response to carbohydrate (GO:0009743)|response to drug (GO:0042493)|response to hormone (GO:0009725)|response to insulin (GO:0032868)|response to organic cyclic compound (GO:0014070)|response to sterol depletion (GO:0006991)|response to toxic substance (GO:0009636)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|T cell costimulation (GO:0031295)|tolerance induction to self antigen (GO:0002513)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integrin alpha2-beta1 complex (GO:0034666)|mast cell granule (GO:0042629)|membrane raft (GO:0045121)|mitochondrial crista (GO:0030061)|mitochondrial intermembrane space (GO:0005758)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|glycosphingolipid binding (GO:0043208)|ion channel binding (GO:0044325)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	22		all_lung(136;0.0555)|Lung NSC(129;0.0726)|all_epithelial(80;0.0772)	Epithelial(17;0.000834)|all cancers(17;0.00598)		Bosutinib(DB06616)|Ponatinib(DB08901)	CTCTCTGTCTGTCAGAGACTT	0.388																																						ENST00000520220.2																			0				breast(4)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	22						c.(442-444)Gtc>Atc		v-yes-1 Yamaguchi sarcoma viral related oncogene homolog							124	129	127					8																	56864542		2203	4300	6503	SO:0001583	missense	4067				erythrocyte differentiation|interspecies interaction between organisms|leukocyte migration|platelet activation|positive regulation of cellular component movement|positive regulation of stress-activated protein kinase signaling cascade|positive regulation of tyrosine phosphorylation of STAT protein|response to DNA damage stimulus|T cell costimulation	cytosol|Golgi apparatus|membrane raft|nucleus|perinuclear region of cytoplasm	ATP binding|ion channel binding|non-membrane spanning protein tyrosine kinase activity|receptor signaling protein tyrosine kinase activity	g.chr8:56864542G>A	M16038	CCDS6162.1, CCDS47859.1	8q13	2014-06-25	2014-06-25		ENSG00000254087	ENSG00000254087		"SH2 domain containing"	6735	protein-coding gene	gene with protein product		165120	"v-yes-1 Yamaguchi sarcoma viral related oncogene homolog"			3561390	Standard	NM_002350		Approved	JTK8	uc003xsk.4	P07948	OTTHUMG00000044345	ENST00000519728.1:c.505G>A	8.37:g.56864542G>A	ENSP00000428924:p.Val169Ile					LYN_ENST00000519728.1_Missense_Mutation_p.V169I	p.V148I	NM_001111097.2	NP_001104567.1	P07948	LYN_HUMAN	Epithelial(17;0.000834)|all cancers(17;0.00598)		7	716	+		all_lung(136;0.0555)|Lung NSC(129;0.0726)|all_epithelial(80;0.0772)	169			SH2.		A0AVQ5	Missense_Mutation	SNP	ENST00000519728.1	37	c.442G>A	CCDS6162.1	.	.	.	.	.	.	.	.	.	.	G	5.180	0.218850	0.09810	.	.	ENSG00000254087	ENST00000519728;ENST00000520220	D;D	0.90844	-2.74;-2.74	6.01	5.13	0.70059	SH2 motif (5);	0.158803	0.53938	D	0.000059	D	0.84777	0.5547	L	0.45698	1.435	0.36126	D	0.845823	B;B	0.17667	0.023;0.001	B;B	0.25405	0.06;0.023	T	0.78071	-0.2347	10	0.20046	T	0.44	.	5.7983	0.18399	0.2498:0.0:0.7502:0.0	.	239;169	Q6NUK7;P07948	.;LYN_HUMAN	I	169;148	ENSP00000428924:V169I;ENSP00000428424:V148I	ENSP00000428924:V169I	V	+	1	0	LYN	57027096	1.000000	0.71417	1.000000	0.80357	0.142000	0.21351	4.061000	0.57485	2.861000	0.98227	0.650000	0.86243	GTC		0.388	LYN-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378155.1	NM_002350		4	145	0	0	0	1	0	4	145					A	56864542	G	A	56864542	3	1	284	1	0	0	0	0	1	0	0	0	9107	1377	48	3	527	3	LYN	8	56864542	Missense_Mutation	SNP	G	TCGA-J4-AAU2-01A-11D-A41K-08	18691031	56864542	89499480	17	13070											
KCNB2	9312	broad.mit.edu	37	chr8	73849053	73849053	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cgccgacgataatcacctgtCgccaagccggtggaagtggg	9	6	14	12	5	1	0	1	0	0	0	2	3	1	1	4	3	1	0	4	3	3	1			TCGA-J4-AAU2-01A-11D-A41K-08	TCGA-J4-AAU2-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b340dd39-ff48-4c98-82af-93c100df68eb	845e0bb4-122b-47a9-b106-a8e658bec473	g.chr8:73849053C>T	ENST00000523207.1	+	3	2051	c.1463C>T	c.(1462-1464)tCg>tTg	p.S488L		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	488					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of smooth muscle contraction (GO:0006940)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)		Dalfampridine(DB06637)	AATCACCTGTCGCCAAGCCGG	0.527																																						ENST00000523207.1																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85						c.(1462-1464)tCg>tTg		potassium voltage-gated channel, Shab-related subfamily, member 2							86	94	91					8																	73849053		2203	4300	6503	SO:0001583	missense	9312				regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding	g.chr8:73849053C>T	U69962	CCDS6209.1	8q13.2	2012-07-05			ENSG00000182674	ENSG00000182674		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6232	protein-coding gene	gene with protein product		607738				9612272, 16382104	Standard	NM_004770		Approved	Kv2.2	uc003xzb.3	Q92953	OTTHUMG00000164498	ENST00000523207.1:c.1463C>T	8.37:g.73849053C>T	ENSP00000430846:p.Ser488Leu						p.S488L	NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	Epithelial(68;0.105)		3	2051	+	Breast(64;0.137)		488					Q7Z7D0|Q9BXD3	Missense_Mutation	SNP	ENST00000523207.1	37	c.1463C>T	CCDS6209.1	.	.	.	.	.	.	.	.	.	.	C	20.1	3.936967	0.73557	.	.	ENSG00000182674	ENST00000523207	T	0.38240	1.15	5.47	5.47	0.80525	.	1.757760	0.03216	N	0.176869	T	0.65365	0.2684	M	0.64997	1.995	0.58432	D	0.999996	D	0.89917	1.0	D	0.70016	0.967	T	0.46596	-0.9180	10	0.42905	T	0.14	.	19.3291	0.94278	0.0:1.0:0.0:0.0	.	488	Q92953	KCNB2_HUMAN	L	488	ENSP00000430846:S488L	ENSP00000430846:S488L	S	+	2	0	KCNB2	74011607	1.000000	0.71417	0.972000	0.41901	0.573000	0.36030	7.666000	0.83877	2.553000	0.86117	0.655000	0.94253	TCG		0.527	KCNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378998.1	NM_004770		6	58	0	0	0	1	0	6	58					T	73849053	C	T	73849053	3	4	284	1	0	0	0	0	1	0	0	0	8013	893	31	2	1469	2	KCNB2	8	73849053	Missense_Mutation	SNP	C	TCGA-J4-AAU2-01A-11D-A41K-08	16984511	73849053	72514969	18	13071											
PTPN3	5774	broad.mit.edu	37	chr9	112151535	112151535	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccctcgttctgtgagagtcGtcaacatgacaatgagtgac	10	10	11	10	2	2	4	1	4	1	1	4	5	2	4	1	0	1	1	1	0	2	1			TCGA-J4-AAU2-01A-11D-A41K-08	TCGA-J4-AAU2-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b340dd39-ff48-4c98-82af-93c100df68eb	845e0bb4-122b-47a9-b106-a8e658bec473	g.chr9:112151535G>A	ENST00000374541.2	-	22	2335	c.2231C>T	c.(2230-2232)aCg>aTg	p.T744M	PTPN3_ENST00000262539.3_Missense_Mutation_p.T590M|PTPN3_ENST00000412145.1_Missense_Mutation_p.T613M|PTPN3_ENST00000394827.3_Missense_Mutation_p.T212M|PTPN3_ENST00000497739.1_5'UTR|PTPN3_ENST00000446349.1_Missense_Mutation_p.T568M	NM_001145368.1|NM_002829.3	NP_001138840.1|NP_002820.3	P26045	PTN3_HUMAN	protein tyrosine phosphatase, non-receptor type 3	744	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				negative regulation of membrane protein ectodomain proteolysis (GO:0051045)|negative regulation of mitotic cell cycle (GO:0045930)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of membrane depolarization during action potential (GO:0098902)|regulation of sodium ion transmembrane transporter activity (GO:2000649)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoskeleton (GO:0005856)	ATPase binding (GO:0051117)|phosphotyrosine binding (GO:0001784)|protein tyrosine phosphatase activity (GO:0004725)|sodium channel regulator activity (GO:0017080)			breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						TGTGAGAGTCGTCAACATGAC	0.498																																						ENST00000412145.1																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						c.(1837-1839)aCg>aTg		protein tyrosine phosphatase, non-receptor type 3							93	76	82					9																	112151535		2203	4300	6503	SO:0001583	missense	0				negative regulation of membrane protein ectodomain proteolysis|negative regulation of mitotic cell cycle	cytoplasm|cytoskeleton|internal side of plasma membrane	ATPase binding|cytoskeletal protein binding|phosphotyrosine binding|protein tyrosine phosphatase activity	g.chr9:112151535G>A		CCDS6776.1, CCDS48000.1, CCDS48001.1	9q31	2011-06-09			ENSG00000070159	ENSG00000070159		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"	9655	protein-coding gene	gene with protein product		176877				1648725	Standard	NM_002829		Approved	PTPH1	uc004bed.2	P26045	OTTHUMG00000020475	ENST00000374541.2:c.2231C>T	9.37:g.112151535G>A	ENSP00000363667:p.Thr744Met					PTPN3_ENST00000374541.2_Missense_Mutation_p.T744M|PTPN3_ENST00000497739.1_5'UTR|PTPN3_ENST00000446349.1_Missense_Mutation_p.T568M|PTPN3_ENST00000394827.3_Missense_Mutation_p.T212M|PTPN3_ENST00000262539.3_Missense_Mutation_p.T590M	p.T613M	NM_001145369.1|NM_001145371.1	NP_001138841.1|NP_001138843.1	P26045	PTN3_HUMAN			17	4391	-			744					A0AUW9|E7EN99|E9PGU7	Missense_Mutation	SNP	ENST00000374541.2	37	c.1838C>T	CCDS6776.1	.	.	.	.	.	.	.	.	.	.	G	35	5.509809	0.96386	.	.	ENSG00000070159	ENST00000394831;ENST00000412145;ENST00000446349;ENST00000374541;ENST00000394827;ENST00000262539	T;T;T;T;T	0.18016	2.24;2.24;2.24;2.24;2.24	5.56	5.56	0.83823	Protein-tyrosine phosphatase, receptor/non-receptor type (3);	0.000000	0.85682	D	0.000000	T	0.58793	0.2147	H	0.96111	3.77	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.72924	-0.4144	10	0.87932	D	0	.	19.5451	0.95291	0.0:0.0:1.0:0.0	.	590;699;744	B7Z3H5;B7Z9V1;P26045	.;.;PTN3_HUMAN	M	744;613;568;744;212;590	ENSP00000416654:T613M;ENSP00000395384:T568M;ENSP00000363667:T744M;ENSP00000378304:T212M;ENSP00000262539:T590M	ENSP00000262539:T590M	T	-	2	0	PTPN3	111191356	1.000000	0.71417	0.993000	0.49108	0.940000	0.58332	9.869000	0.99810	2.629000	0.89072	0.655000	0.94253	ACG		0.498	PTPN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053598.4			9	33	0	0	0	1	0	9	33					A	112151535	G	A	112151535	3	1	284	1	0	0	0	0	1	0	0	0	12789	1145	40	1	530	1	PTPN3	9	112151535	Missense_Mutation	SNP	G	TCGA-J4-AAU2-01A-11D-A41K-08		112151535	29061896	19	13072											
COL5A1	1289	broad.mit.edu	37	chr9	137686952	137686952	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccctggaaagccaggaccgCgggggcagcgaggcccaacg	9	1	16	15	4	0	0	0	0	0	0	0	3	0	2	5	5	3	1	5	5	2	0			TCGA-J4-AAU2-01A-11D-A41K-08	TCGA-J4-AAU2-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b340dd39-ff48-4c98-82af-93c100df68eb	845e0bb4-122b-47a9-b106-a8e658bec473	g.chr9:137686952C>T	ENST00000371817.3	+	33	3139	c.2725C>T	c.(2725-2727)Cgg>Tgg	p.R909W		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	909	Triple-helical region.				axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular fibril organization (GO:0043206)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|eye morphogenesis (GO:0048592)|heart morphogenesis (GO:0003007)|integrin biosynthetic process (GO:0045112)|negative regulation of endodermal cell differentiation (GO:1903225)|regulation of cellular component organization (GO:0051128)|skin development (GO:0043588)|tendon development (GO:0035989)|wound healing, spreading of epidermal cells (GO:0035313)	basement membrane (GO:0005604)|collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|proteoglycan binding (GO:0043394)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		GCCAGGACCGCGGGGGCAGCG	0.627																																						ENST00000371817.3																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115						c.(2725-2727)Cgg>Tgg		collagen, type V, alpha 1							52	59	57					9																	137686952		2203	4300	6503	SO:0001583	missense	1289				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding	g.chr9:137686952C>T	D90279	CCDS6982.1, CCDS75932.1	9q34.2-q34.3	2014-09-17			ENSG00000130635	ENSG00000130635		"Collagens"	2209	protein-coding gene	gene with protein product	"alpha 1 type V collagen"	120215				1572660	Standard	NM_001278074		Approved		uc031tfl.1	P20908	OTTHUMG00000020891	ENST00000371817.3:c.2725C>T	9.37:g.137686952C>T	ENSP00000360882:p.Arg909Trp						p.R909W	NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)	33	3139	+		Myeloproliferative disorder(178;0.0341)	909			Triple-helical region.		Q15094|Q5SUX4	Missense_Mutation	SNP	ENST00000371817.3	37	c.2725C>T	CCDS6982.1	.	.	.	.	.	.	.	.	.	.	C	18.51	3.640156	0.67244	.	.	ENSG00000130635	ENST00000371817	D	0.94537	-3.45	4.43	3.42	0.39159	.	0.000000	0.64402	U	0.000001	D	0.96043	0.8711	M	0.69185	2.1	0.49798	D	0.999821	D	0.89917	1.0	D	0.83275	0.996	D	0.95286	0.8390	10	0.87932	D	0	.	9.5878	0.39528	0.6413:0.3587:0.0:0.0	.	909	P20908	CO5A1_HUMAN	W	909	ENSP00000360882:R909W	ENSP00000360882:R909W	R	+	1	2	COL5A1	136826773	0.595000	0.26857	0.991000	0.47740	0.862000	0.49288	1.169000	0.31871	0.793000	0.33875	0.297000	0.19635	CGG		0.627	COL5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054954.2	NM_000093		7	30	0	0	0	1	0	7	30					T	137686952	C	T	137686952	3	4	284	1	0	0	0	0	1	0	0	0	3696	759	27	1	2855	1	COL5A1	9	137686952	Missense_Mutation	SNP	C	TCGA-J4-AAU2-01A-11D-A41K-08	25535417	137686952	3526479	20	13073											
DNHD1	144132	broad.mit.edu	37	chr11	6593109	6593109	+	Nonsense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gagggccccttggcaccgctAagctgcagagcaggaacatc	10	5	13	13	1	0	1	0	0	0	1	1	3	0	2	3	3	4	5	3	3	2	2			TCGA-J4-AAU2-01A-11D-A41K-08	TCGA-J4-AAU2-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b340dd39-ff48-4c98-82af-93c100df68eb	845e0bb4-122b-47a9-b106-a8e658bec473	g.chr11:6593109A>T	ENST00000527990.2	+	41	14155	c.14155A>T	c.(14155-14157)Aag>Tag	p.K4719*	DNHD1_ENST00000254579.6_Nonsense_Mutation_p.K4719*			Q96M86	DNHD1_HUMAN	dynein heavy chain domain 1	4719					microtubule-based movement (GO:0007018)	dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)	microtubule motor activity (GO:0003777)			NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(13)|kidney(6)|large_intestine(11)|lung(14)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	55		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171)		Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		TGGCACCGCTAAGCTGCAGAG	0.617																																						ENST00000254579.6																			0				NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(13)|kidney(6)|large_intestine(11)|lung(14)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	55						c.(14155-14157)Aag>Tag		dynein heavy chain domain 1							130	135	133					11																	6593109		2120	4234	6354	SO:0001587	stop_gained	144132				microtubule-based movement	dynein complex	microtubule motor activity	g.chr11:6593109A>T	AK128064	CCDS44532.1, CCDS7767.1	11p15.4	2011-02-10		2005-11-28	ENSG00000179532	ENSG00000179532			26532	protein-coding gene	gene with protein product			"chromosome 11 open reading frame 47", "dynein heavy chain domain 1-like", "coiled-coil domain containing 35"	DHCD1, C11orf47, DNHD1L, CCDC35		12975309	Standard	NM_173589		Approved	FLJ32752, FLJ46184, FLJ35709, DKFZp686J0796	uc001mdw.4	Q96M86	OTTHUMG00000133403	ENST00000527990.2:c.14155A>T	11.37:g.6593109A>T	ENSP00000436180:p.Lys4719*					DNHD1_ENST00000527990.2_Nonsense_Mutation_p.K4719*	p.K4719*	NM_144666.2	NP_653267.2	Q96M86	DNHD1_HUMAN		Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)	43	14719	+		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171)	4719					Q2NKK8|Q6UWI9|Q8NAA2|Q8TEE6|Q9NSZ9	Nonsense_Mutation	SNP	ENST00000527990.2	37	c.14155A>T	CCDS44532.1	.	.	.	.	.	.	.	.	.	.	A	56	25.934940	0.99967	.	.	ENSG00000179532	ENST00000254579;ENST00000527990;ENST00000530197	.	.	.	4.75	3.6	0.41247	.	0.396441	0.24386	N	0.038963	.	.	.	.	.	.	0.44402	D	0.997317	.	.	.	.	.	.	.	.	.	.	0.25751	T	0.34	-4.1972	6.1469	0.20291	0.7297:0.1766:0.0938:0.0	.	.	.	.	X	4719;4719;987	.	ENSP00000254579:K4719X	K	+	1	0	DNHD1	6549685	0.680000	0.27605	0.415000	0.26534	0.731000	0.41821	1.765000	0.38481	1.997000	0.58415	0.533000	0.62120	AAG		0.617	DNHD1-007	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384673.2	NM_144666		32	55	0	0	0	1	0	32	55					T	6593109	A	T	6593109	4	4	284	1	0	0	0	0	0	1	0	0	4668	363	13	5	14326	5	DNHD1	11	6593109	Nonsense_Mutation	SNP	A	TCGA-J4-AAU2-01A-11D-A41K-08		6593109	128413407	21	13074											
PTPN5	84867	broad.mit.edu	37	chr11	18765570	18765570	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	taccaggaactgtgaggcagCgaacaggcacaggctgctcc	11	5	13	12	1	0	1	0	1	0	0	1	3	1	2	2	4	5	4	2	4	3	1	rs200135035		TCGA-J4-AAU2-01A-11D-A41K-08	TCGA-J4-AAU2-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b340dd39-ff48-4c98-82af-93c100df68eb	845e0bb4-122b-47a9-b106-a8e658bec473	g.chr11:18765570C>T	ENST00000358540.2	-	4	704	c.274G>A	c.(274-276)Gct>Act	p.A92T	PTPN5_ENST00000477854.1_5'Flank|PTPN5_ENST00000396168.1_Missense_Mutation_p.A68T|PTPN5_ENST00000496201.2_5'UTR|PTPN5_ENST00000396171.4_Missense_Mutation_p.A92T|PTPN5_ENST00000396167.2_Missense_Mutation_p.A92T|PTPN5_ENST00000396170.1_Missense_Mutation_p.A92T	NM_006906.1	NP_008837.1	P54829	PTN5_HUMAN	protein tyrosine phosphatase, non-receptor type 5 (striatum-enriched)	92					peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	phosphotyrosine binding (GO:0001784)|protein tyrosine phosphatase activity (GO:0004725)			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(13)|ovary(2)|prostate(1)|skin(4)	27						TGTGAGGCAGCGAACAGGCAC	0.657													C|||	1	0.000199681	0	0	5008	,	,		19056	0.001		0	False		,,,				2504	0					ENST00000396170.1																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(13)|ovary(2)|prostate(1)|skin(4)	27						c.(274-276)Gct>Act		protein tyrosine phosphatase, non-receptor type 5 (striatum-enriched)							64	67	66					11																	18765570		2199	4293	6492	SO:0001583	missense	84867					integral to membrane	phosphotyrosine binding|protein tyrosine phosphatase activity	g.chr11:18765570C>T	BC064807	CCDS7845.1, CCDS41626.1, CCDS60746.1	11p15.1	2011-06-09			ENSG00000110786	ENSG00000110786		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"	9657	protein-coding gene	gene with protein product		176879				1714595	Standard	NM_001278236		Approved	STEP, PTPSTEP	uc001mpc.4	P54829	OTTHUMG00000134304	ENST00000358540.2:c.274G>A	11.37:g.18765570C>T	ENSP00000351342:p.Ala92Thr					PTPN5_ENST00000496201.2_5'UTR|PTPN5_ENST00000358540.2_Missense_Mutation_p.A92T|PTPN5_ENST00000396168.1_Missense_Mutation_p.A68T|PTPN5_ENST00000396171.4_Missense_Mutation_p.A92T|PTPN5_ENST00000396167.2_Missense_Mutation_p.A92T	p.A92T	NM_001278236.1	NP_001265165.1	P54829	PTN5_HUMAN			4	1538	-			92					B3KXG7|B7Z386|B7ZAF5|D3DQY7|Q6P1Z2|Q8N2A1|Q8NDP8	Missense_Mutation	SNP	ENST00000358540.2	37	c.274G>A	CCDS7845.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	23.1	4.377493	0.82682	.	.	ENSG00000110786	ENST00000358540;ENST00000396170;ENST00000396171;ENST00000396167;ENST00000396168	T;T;T;T;T	0.06849	3.72;3.25;3.72;3.25;3.74	4.76	4.76	0.60689	.	0.113438	0.39687	N	0.001291	T	0.07007	0.0178	N	0.12182	0.205	0.35531	D	0.80226	D;D	0.56968	0.978;0.978	P;P	0.45099	0.469;0.469	T	0.41928	-0.9481	10	0.39692	T	0.17	-7.7637	15.2992	0.73933	0.0:1.0:0.0:0.0	.	92;92	P54829;B3KXG7	PTN5_HUMAN;.	T	92;92;92;92;68	ENSP00000351342:A92T;ENSP00000379473:A92T;ENSP00000379474:A92T;ENSP00000379470:A92T;ENSP00000379471:A68T	ENSP00000351342:A92T	A	-	1	0	PTPN5	18722146	1.000000	0.71417	0.847000	0.33407	0.922000	0.55478	3.069000	0.50026	2.361000	0.80049	0.491000	0.48974	GCT		0.657	PTPN5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000259196.2	NM_001039970		17	39	0	0	0	1	0	17	39					T	18765570	C	T	18765570	3	4	284	1	0	0	0	0	1	0	0	0	12791	768	27	1	1471	1	PTPN5	11	18765570	Missense_Mutation	SNP	C	TCGA-J4-AAU2-01A-11D-A41K-08	12172461	18765570	116240946	22	13075											
USP28	57646	broad.mit.edu	37	chr11	113711419	113711419	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ttgggattggggttttctccCcagacttcacagcgttttct	5	16	10	10	1	3	1	1	0	2	1	4	2	3	2	2	3	1	2	2	3	0	7			TCGA-J4-AAU2-01A-11D-A41K-08	TCGA-J4-AAU2-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b340dd39-ff48-4c98-82af-93c100df68eb	845e0bb4-122b-47a9-b106-a8e658bec473	g.chr11:113711419C>T	ENST00000003302.4	-	5	503	c.435G>A	c.(433-435)tgG>tgA	p.W145*	USP28_ENST00000260188.5_Nonsense_Mutation_p.W145*|USP28_ENST00000542033.1_5'UTR|USP28_ENST00000545540.1_Nonsense_Mutation_p.W20*|USP28_ENST00000537706.1_Nonsense_Mutation_p.W145*	NM_020886.2	NP_065937.1	Q96RU2	UBP28_HUMAN	ubiquitin specific peptidase 28	145					cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|protein deubiquitination (GO:0016579)|response to ionizing radiation (GO:0010212)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			breast(4)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(24)|ovary(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	59		all_cancers(61;3.74e-18)|all_epithelial(67;3.75e-11)|Melanoma(852;1.46e-05)|all_hematologic(158;4.65e-05)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|Prostate(24;0.0153)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|Epithelial(105;0.000122)|all cancers(92;0.00104)		GGTTTTCTCCCCAGACTTCAC	0.448																																					Melanoma(4;162 555 7664)|GBM(79;500 2010 17506)|Esophageal Squamous(9;463 924 15765)	ENST00000003302.4																			0				breast(4)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(24)|ovary(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	59						c.(433-435)tgG>tgA		ubiquitin specific peptidase 28							130	110	117					11																	113711419		2201	4296	6497	SO:0001587	stop_gained	57646				cell proliferation|DNA damage checkpoint|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA repair|protein deubiquitination|response to ionizing radiation|ubiquitin-dependent protein catabolic process	nucleolus|nucleoplasm	protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr11:113711419C>T	AB040948	CCDS31680.1, CCDS73394.1	11q23	2008-04-11	2005-08-08		ENSG00000048028	ENSG00000048028		"Ubiquitin-specific peptidases"	12625	protein-coding gene	gene with protein product		610748	"ubiquitin specific protease 28"			12838346, 11597335	Standard	XM_005271630		Approved	KIAA1515	uc001poh.3	Q96RU2	OTTHUMG00000168205	ENST00000003302.4:c.435G>A	11.37:g.113711419C>T	ENSP00000003302:p.Trp145*					USP28_ENST00000537706.1_Nonsense_Mutation_p.W145*|USP28_ENST00000545540.1_Nonsense_Mutation_p.W20*|USP28_ENST00000260188.5_Nonsense_Mutation_p.W145*|USP28_ENST00000542033.1_5'UTR	p.W145*	NM_020886.2	NP_065937.1	Q96RU2	UBP28_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|Epithelial(105;0.000122)|all cancers(92;0.00104)	5	503	-		all_cancers(61;3.74e-18)|all_epithelial(67;3.75e-11)|Melanoma(852;1.46e-05)|all_hematologic(158;4.65e-05)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|Prostate(24;0.0153)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)	145					B0YJC0|B0YJC1|Q9P213	Nonsense_Mutation	SNP	ENST00000003302.4	37	c.435G>A	CCDS31680.1	.	.	.	.	.	.	.	.	.	.	C	36	5.711726	0.96830	.	.	ENSG00000048028	ENST00000003302;ENST00000260188;ENST00000545540;ENST00000537706;ENST00000537642	.	.	.	5.75	5.75	0.90469	.	0.258280	0.42294	D	0.000725	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-9.0963	19.5331	0.95237	0.0:1.0:0.0:0.0	.	.	.	.	X	145;145;20;145;73	.	ENSP00000003302:W145X	W	-	3	0	USP28	113216629	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.142000	0.77339	2.701000	0.92244	0.585000	0.79938	TGG		0.448	USP28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398789.1			16	29	0	0	0	1	0	16	29					T	113711419	C	T	113711419	4	4	284	1	0	0	0	0	0	1	0	0	17055	624	22	3	2882	3	USP28	11	113711419	Nonsense_Mutation	SNP	C	TCGA-J4-AAU2-01A-11D-A41K-08	94945849	113711419	21295097	23	13076											
MLL2	8085	broad.mit.edu	37	chr12	49447072	49447073	+	Frame_Shift_Ins	INS	-	-	A																															tcctttgtcacacgtctcacINSaaaccaacatcttagagtca																										TCGA-J4-AAU2-01A-11D-A41K-08	TCGA-J4-AAU2-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b340dd39-ff48-4c98-82af-93c100df68eb	845e0bb4-122b-47a9-b106-a8e658bec473	g.chr12:49447072_49447073insA	ENST00000301067.7	-	7	870_871	c.871_872insT	c.(871-873)tgtfs	p.C291fs		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	291	Cys-rich.				chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)										ACACGTCTCACAAACCAACATC	0.455																																						ENST00000301067.7																			0											c.(871-873)tgafs		lysine (K)-specific methyltransferase 2D																																				SO:0001589	frameshift_variant	8085							g.chr12:49447072_49447073insA	AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	7133	protein-coding gene	gene with protein product		602113	"trinucleotide repeat containing 21", "myeloid/lymphoid or mixed-lineage leukemia 2"	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.872dupT	12.37:g.49447075_49447075dupA	ENSP00000301067:p.Cys291fs						p.*291fs	NM_003482.3	NP_003473.3					7	870_871	-								O14687	Frame_Shift_Ins	INS	ENST00000301067.7	37	c.871_872insT	CCDS44873.1																																																																																				0.455	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2			35	50						35	50	---	---	---	---	A	49447073	-	A	49447072	7	5	284	1	0	1	1	0	0	0	0	0	9621	478	17	0	15933	0	MLL2	12	49447072	Frame_Shift_Ins	INS	-	TCGA-J4-AAU2-01A-11D-A41K-08		49447072	84404823	24	13077											
KRT81	3887	broad.mit.edu	37	chr12	52682215	52682215	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cgttggcctccaggtctgacTtgcggaggtaggcgcagtcc	5	9	15	12	3	1	1	0	1	1	0	3	2	3	2	3	5	1	3	3	5	1	3			TCGA-J4-AAU2-01A-11D-A41K-08	TCGA-J4-AAU2-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b340dd39-ff48-4c98-82af-93c100df68eb	845e0bb4-122b-47a9-b106-a8e658bec473	g.chr12:52682215T>A	ENST00000327741.5	-	4	733	c.665A>T	c.(664-666)aAg>aTg	p.K222M	KRT86_ENST00000423955.2_Intron|KRT86_ENST00000544024.1_Intron	NM_002281.3	NP_002272.2	Q14533	KRT81_HUMAN	keratin 81	222	Coil 1B.|Rod.					extracellular space (GO:0005615)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			breast(2)|endometrium(3)|large_intestine(3)|lung(6)|prostate(1)|stomach(1)	16				BRCA - Breast invasive adenocarcinoma(357;0.189)		CAGGTCTGACTTGCGGAGGTA	0.617																																						ENST00000327741.5																			0				breast(2)|endometrium(3)|large_intestine(3)|lung(6)|prostate(1)|stomach(1)	16						c.(664-666)aAg>aTg		keratin 81							115	115	115					12																	52682215		2203	4300	6503	SO:0001583	missense	3887					keratin filament	protein binding|structural molecule activity	g.chr12:52682215T>A	X81420	CCDS31805.1	12q13	2013-01-16	2006-07-17	2006-07-17	ENSG00000205426	ENSG00000205426		"-", "Intermediate filaments type II, keratins (basic)"	6458	protein-coding gene	gene with protein product	"hard keratin type II 1"	602153	"keratin, hair, basic, 1"	KRTHB1		7556444, 16831889	Standard	NM_002281		Approved	Hb-1	uc001sab.3	Q14533	OTTHUMG00000167574	ENST00000327741.5:c.665A>T	12.37:g.52682215T>A	ENSP00000369349:p.Lys222Met					KRT86_ENST00000544024.1_Intron|KRT86_ENST00000423955.2_Intron	p.K222M	NM_002281.3	NP_002272.2	Q14533	KRT81_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.189)	4	733	-			222			Coil 1B.|Rod.		Q14846|Q16274|Q17R48|Q8WU52|Q9BR74	Missense_Mutation	SNP	ENST00000327741.5	37	c.665A>T	CCDS31805.1	.	.	.	.	.	.	.	.	.	.	T	22.7	4.326538	0.81690	.	.	ENSG00000205426	ENST00000327741;ENST00000389388	D	0.91577	-2.87	4.78	3.62	0.41486	Filament (1);	0.000000	0.44483	U	0.000450	D	0.96349	0.8809	H	0.97415	4	0.40334	D	0.978969	D	0.65815	0.995	D	0.67900	0.954	D	0.95671	0.8723	10	0.87932	D	0	.	9.1658	0.37050	0.0:0.0923:0.0:0.9076	.	222	Q14533	KRT81_HUMAN	M	222	ENSP00000369349:K222M	ENSP00000369349:K222M	K	-	2	0	KRT81	50968482	1.000000	0.71417	0.996000	0.52242	0.946000	0.59487	4.212000	0.58514	0.673000	0.31224	0.374000	0.22700	AAG		0.617	KRT81-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395128.2	NM_002281		8	90	0	0	0	1	0	8	90					A	52682215	T	A	52682215	3	1	284	1	0	0	0	0	1	0	0	0	8495	1609	56	5	876	5	KRT81	12	52682215	Missense_Mutation	SNP	T	TCGA-J4-AAU2-01A-11D-A41K-08	3235143	52682215	81169680	25	13078											
PARP4	143	broad.mit.edu	37	chr13	25075938	25075938	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aattcagttggtactgactcAgaacatcagcattatctaag	14	12	7	8	0	4	2	3	1	1	1	4	2	4	2	0	1	3	3	0	1	5	5			TCGA-J4-AAU2-01A-11D-A41K-08	TCGA-J4-AAU2-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b340dd39-ff48-4c98-82af-93c100df68eb	845e0bb4-122b-47a9-b106-a8e658bec473	g.chr13:25075938A>G	ENST00000381989.3	-	3	272	c.167T>C	c.(166-168)cTg>cCg	p.L56P		NM_006437.3	NP_006428.2	Q9UKK3	PARP4_HUMAN	poly (ADP-ribose) polymerase family, member 4	56	BRCT. {ECO:0000255|PROSITE- ProRule:PRU00033}.				cell death (GO:0008219)|cellular protein modification process (GO:0006464)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|inflammatory response (GO:0006954)|protein ADP-ribosylation (GO:0006471)|response to drug (GO:0042493)|transport (GO:0006810)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|spindle microtubule (GO:0005876)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|NAD+ ADP-ribosyltransferase activity (GO:0003950)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(18)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63		all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052)		all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195)		GTACTGACTCAGAACATCAGC	0.318																																						ENST00000381989.3																			0				autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(18)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63						c.(166-168)cTg>cCg		poly (ADP-ribose) polymerase family, member 4							97	101	100					13																	25075938		2203	4300	6503	SO:0001583	missense	143				cell death|DNA repair|inflammatory response|protein ADP-ribosylation|response to drug|transport	cytoplasm|nucleus|ribonucleoprotein complex|spindle microtubule	DNA binding|enzyme binding|NAD+ ADP-ribosyltransferase activity	g.chr13:25075938A>G	AF057160	CCDS9307.1	13q11	2010-09-29	2004-08-20	2004-08-26	ENSG00000102699	ENSG00000102699		"Poly (ADP-ribose) polymerases"	271	protein-coding gene	gene with protein product	"von Willebrand factor A domain containing 5C"	607519	"ADP-ribosyltransferase (NAD+; poly (ADP-ribose) polymerase)-like 1"	ADPRTL1		10644454	Standard	NM_006437		Approved	VAULT3, p193, VPARP, VWA5C	uc001upl.3	Q9UKK3	OTTHUMG00000016582	ENST00000381989.3:c.167T>C	13.37:g.25075938A>G	ENSP00000371419:p.Leu56Pro						p.L56P	NM_006437.3	NP_006428.2	Q9UKK3	PARP4_HUMAN		all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195)	3	272	-		all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052)	56			BRCT.		O75903|Q14682|Q5QNZ9|Q9H1M6	Missense_Mutation	SNP	ENST00000381989.3	37	c.167T>C	CCDS9307.1	.	.	.	.	.	.	.	.	.	.	A	14.50	2.555445	0.45487	.	.	ENSG00000102699	ENST00000381989	T	0.80480	-1.38	4.89	4.89	0.63831	BRCT (4);	0.000000	0.56097	D	0.000025	D	0.88411	0.6429	M	0.74258	2.255	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.89396	0.3692	10	0.66056	D	0.02	-10.3814	12.5062	0.55981	1.0:0.0:0.0:0.0	.	56	Q9UKK3	PARP4_HUMAN	P	56	ENSP00000371419:L56P	ENSP00000371419:L56P	L	-	2	0	PARP4	23973938	1.000000	0.71417	0.163000	0.22734	0.412000	0.31113	4.821000	0.62679	2.038000	0.60285	0.533000	0.62120	CTG		0.318	PARP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044189.1	NM_006437		7	62	0	0	0	1	0	7	62					G	25075938	A	G	25075938	3	3	284	1	0	0	0	0	1	0	0	0	11463	188	7	4	5135	4	PARP4	13	25075938	Missense_Mutation	SNP	A	TCGA-J4-AAU2-01A-11D-A41K-08		25075938	90093940	26	13079											
SLC24A4	123041	broad.mit.edu	37	chr14	92958551	92958551	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agccgggggctggtctattcCgtggtcctgttgctgggctc	2	12	16	11	2	1	0	0	0	1	0	4	0	3	0	3	5	2	4	3	5	1	3			TCGA-J4-AAU2-01A-11D-A41K-08	TCGA-J4-AAU2-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b340dd39-ff48-4c98-82af-93c100df68eb	845e0bb4-122b-47a9-b106-a8e658bec473	g.chr14:92958551C>T	ENST00000532405.1	+	16	1909	c.1683C>T	c.(1681-1683)tcC>tcT	p.S561S	SLC24A4_ENST00000531433.1_Silent_p.S542S|SLC24A4_ENST00000393265.2_Silent_p.S497S|SLC24A4_ENST00000351924.5_Silent_p.S525S|SLC24A4_ENST00000298877.1_Silent_p.S544S			Q8NFF2	NCKX4_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 4	561					amelogenesis (GO:0097186)|cellular calcium ion homeostasis (GO:0006874)|ion transport (GO:0006811)|response to stimulus (GO:0050896)|sensory perception of smell (GO:0007608)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium, potassium:sodium antiporter activity (GO:0008273)|symporter activity (GO:0015293)			breast(3)|endometrium(2)|kidney(2)|large_intestine(6)|lung(20)|ovary(2)|skin(1)	36		all_cancers(154;0.0347)|all_epithelial(191;0.163)		Colorectal(1;0.00242)|COAD - Colon adenocarcinoma(157;0.047)|Epithelial(152;0.0781)|READ - Rectum adenocarcinoma(1;0.176)|all cancers(159;0.182)		TGGTCTATTCCGTGGTCCTGT	0.507																																					NSCLC(10;315 435 10383 28450 38798)	ENST00000532405.1																			0				breast(3)|endometrium(2)|kidney(2)|large_intestine(6)|lung(20)|ovary(2)|skin(1)	36						c.(1681-1683)tcC>tcT		solute carrier family 24 (sodium/potassium/calcium exchanger), member 4							166	160	162					14																	92958551		2203	4300	6503	SO:0001819	synonymous_variant	123041					integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity	g.chr14:92958551C>T	AF520704	CCDS9903.1, CCDS45155.1, CCDS45156.1, CCDS9903.2, CCDS45155.2	14q32.12	2013-05-22			ENSG00000140090	ENSG00000140090		"Solute carriers"	10978	protein-coding gene	gene with protein product		609840					Standard	NM_153646		Approved	NCKX4	uc001yak.3	Q8NFF2	OTTHUMG00000167589	ENST00000532405.1:c.1683C>T	14.37:g.92958551C>T						SLC24A4_ENST00000531433.1_Silent_p.S542S|SLC24A4_ENST00000393265.2_Silent_p.S497S|SLC24A4_ENST00000298877.1_Silent_p.S544S|SLC24A4_ENST00000351924.5_Silent_p.S525S	p.S561S			Q8NFF2	NCKX4_HUMAN		Colorectal(1;0.00242)|COAD - Colon adenocarcinoma(157;0.047)|Epithelial(152;0.0781)|READ - Rectum adenocarcinoma(1;0.176)|all cancers(159;0.182)	16	1909	+		all_cancers(154;0.0347)|all_epithelial(191;0.163)	561					B4DHE7|B9ZVY2|Q8N8U6|Q8NCX1|Q8NFF0|Q8NFF1	Silent	SNP	ENST00000532405.1	37	c.1683C>T	CCDS9903.2	.	.	.	.	.	.	.	.	.	.	C	7.877	0.729456	0.15507	.	.	ENSG00000140090	ENST00000525557	.	.	.	4.33	-2.06	0.07298	.	.	.	.	.	T	0.37999	0.1024	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.30822	-0.9965	4	.	.	.	.	0.2289	0.00177	0.324:0.2187:0.2254:0.2319	.	.	.	.	C	427	.	.	R	+	1	0	SLC24A4	92028304	0.000000	0.05858	0.977000	0.42913	0.768000	0.43524	-3.389000	0.00488	-0.406000	0.07588	-0.273000	0.10243	CGT		0.507	SLC24A4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000395240.1	NM_153646		13	30	0	0	0	1	0	13	30					T	92958551	C	T	92958551	2	4	284	1	0	0	0	0	0	0	0	1	14468	639	23	2		2	SLC24A4	14	92958551	Silent	SNP	C	TCGA-J4-AAU2-01A-11D-A41K-08		92958551	14390989	27	13080											
GLIS2	84662	broad.mit.edu	37	chr16	4387464	4387464	+	Frame_Shift_Del	DEL	C	C	-																															cagcagcccagaggcgttggCccctggctgggtggtcatcc																										TCGA-J4-AAU2-01A-11D-A41K-08	TCGA-J4-AAU2-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b340dd39-ff48-4c98-82af-93c100df68eb	845e0bb4-122b-47a9-b106-a8e658bec473	g.chr16:4387464delC	ENST00000262366.3	+	8	2335	c.1514delC	c.(1513-1515)gccfs	p.A505fs	RP11-295D4.1_ENST00000574705.1_RNA|GLIS2_ENST00000433375.1_Frame_Shift_Del_p.A505fs|PAM16_ENST00000577031.1_Intron			Q9BZE0	GLIS2_HUMAN	GLIS family zinc finger 2	505					cell differentiation (GO:0030154)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|cervix(4)|endometrium(1)|lung(2)|ovary(1)|prostate(1)|urinary_tract(1)	11						GAGGCGTTGGCCCCTGGCTGG	0.697																																						ENST00000262366.3																			0				breast(1)|cervix(4)|endometrium(1)|lung(2)|ovary(1)|prostate(1)|urinary_tract(1)	11						c.(1513-1515)gcfs		GLIS family zinc finger 2							11	11	11					16																	4387464		2177	4254	6431	SO:0001589	frameshift_variant	84662				cell differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nervous system development	cytoplasm|nuclear speck	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|transcription regulatory region DNA binding|zinc ion binding	g.chr16:4387464delC	AF325914	CCDS10511.1	16p13.3	2013-01-08			ENSG00000126603	ENSG00000126603		"Zinc fingers, C2H2-type"	29450	protein-coding gene	gene with protein product	"nephrocystin-7"	608539				11741991, 14500813, 17618285	Standard	NM_032575		Approved	NPHP7	uc002cwc.1	Q9BZE0	OTTHUMG00000129467	ENST00000262366.3:c.1514delC	16.37:g.4387464delC	ENSP00000262366:p.Ala505fs					GLIS2_ENST00000433375.1_Frame_Shift_Del_p.A505fs|RP11-295D4.1_ENST00000574705.1_RNA|PAM16_ENST00000577031.1_Intron	p.A505fs			Q9BZE0	GLIS2_HUMAN			8	2335	+			505					B3KX84	Frame_Shift_Del	DEL	ENST00000262366.3	37	c.1514delC	CCDS10511.1																																																																																				0.697	GLIS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251630.1	NM_032575		2	4						2	4	---	---	---	---	-	4387464	C	-	4387464	7	5	284	1	0	1	0	1	0	0	0	0	6446	739	26	0	1536	0	GLIS2	16	4387464	Frame_Shift_Del	DEL	C	TCGA-J4-AAU2-01A-11D-A41K-08		4387464	85967289	28	13081											
MYH3	4621	broad.mit.edu	37	chr17	10537029	10537029	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttctgtgagatctgctatcTcctctgtaaagaagtaagtt	10	15	9	7	0	4	2	0	1	4	2	5	3	4	2	1	0	1	5	1	0	5	5			TCGA-J4-AAU2-01A-11D-A41K-08	TCGA-J4-AAU2-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b340dd39-ff48-4c98-82af-93c100df68eb	845e0bb4-122b-47a9-b106-a8e658bec473	g.chr17:10537029T>G	ENST00000583535.1	-	33	4613	c.4526A>C	c.(4525-4527)gAg>gCg	p.E1509A	MYH3_ENST00000226209.7_Missense_Mutation_p.E1509A	NM_002470.3	NP_002461.2	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle, embryonic	1509					actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|embryonic limb morphogenesis (GO:0030326)|face morphogenesis (GO:0060325)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|sarcomere organization (GO:0045214)|skeletal muscle contraction (GO:0003009)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						ATCTGCTATCTCCTCTGTAAA	0.408																																						ENST00000583535.1																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						c.(4525-4527)gAg>gCg		myosin, heavy chain 3, skeletal muscle, embryonic							212	190	197					17																	10537029		2203	4300	6503	SO:0001583	missense	4621				muscle filament sliding|muscle organ development	cytosol|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr17:10537029T>G		CCDS11157.1	17p13.1	2013-09-19	2006-09-29		ENSG00000109063	ENSG00000109063		"Myosins / Myosin superfamily : Class II"	7573	protein-coding gene	gene with protein product	"myosin, skeletal, heavy chain, embryonic 1", "muscle embryonic myosin heavy chain 3"	160720	"myosin, heavy polypeptide 3, skeletal muscle, embryonic"			2726495	Standard	NM_002470		Approved	MYHC-EMB, MYHSE1, HEMHC, SMHCE	uc002gmq.2	P11055	OTTHUMG00000130367	ENST00000583535.1:c.4526A>C	17.37:g.10537029T>G	ENSP00000464317:p.Glu1509Ala					MYH3_ENST00000226209.7_Missense_Mutation_p.E1509A	p.E1509A	NM_002470.3	NP_002461.2	P11055	MYH3_HUMAN			33	4613	-			1509					Q15492	Missense_Mutation	SNP	ENST00000583535.1	37	c.4526A>C	CCDS11157.1	.	.	.	.	.	.	.	.	.	.	T	23.7	4.450121	0.84101	.	.	ENSG00000109063	ENST00000226209	D	0.82984	-1.67	5.52	5.52	0.82312	Myosin tail (1);	.	.	.	.	D	0.93585	0.7952	H	0.95402	3.665	0.51233	D	0.999917	D	0.71674	0.998	D	0.70935	0.971	D	0.95381	0.8473	9	0.87932	D	0	.	15.9441	0.79779	0.0:0.0:0.0:1.0	.	1509	P11055	MYH3_HUMAN	A	1509	ENSP00000226209:E1509A	ENSP00000226209:E1509A	E	-	2	0	MYH3	10477754	1.000000	0.71417	1.000000	0.80357	0.855000	0.48748	7.925000	0.87563	2.225000	0.72522	0.460000	0.39030	GAG		0.408	MYH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252734.2	NM_002470		46	75	0	0	0	1	0	46	75					G	10537029	T	G	10537029	3	3	284	1	0	0	0	0	1	0	0	0	10036	1551	54	5	1332	5	MYH3	17	10537029	Missense_Mutation	SNP	T	TCGA-J4-AAU2-01A-11D-A41K-08		10537029	70658181	29	13082											
NFIC	4782	broad.mit.edu	37	chr19	3452610	3452610	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	catctcaacccccaggacccGctcaaagatcttgtctcgct	9	9	6	17	2	4	1	2	0	3	1	6	2	4	2	3	1	1	2	3	1	2	1	rs368456734		TCGA-J4-AAU2-01A-11D-A41K-08	TCGA-J4-AAU2-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b340dd39-ff48-4c98-82af-93c100df68eb	845e0bb4-122b-47a9-b106-a8e658bec473	g.chr19:3452610G>A	ENST00000443272.2	+	8	1266	c.1215G>A	c.(1213-1215)ccG>ccA	p.P405P	NFIC_ENST00000589123.1_Silent_p.P396P|NFIC_ENST00000346156.5_Silent_p.P372P|NFIC_ENST00000395111.3_Silent_p.P396P|NFIC_ENST00000590282.1_Silent_p.P405P|NFIC_ENST00000341919.3_Silent_p.P405P|NFIC_ENST00000586919.1_Silent_p.P372P	NM_001245002.1	NP_001231931.1	P08651	NFIC_HUMAN	nuclear factor I/C (CCAAT-binding transcription factor)	405					DNA replication (GO:0006260)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription from RNA polymerase II promoter (GO:0006366)	nucleolus (GO:0005730)|nucleus (GO:0005634)	core promoter proximal region DNA binding (GO:0001159)|double-stranded DNA binding (GO:0003690)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.P396P(2)		NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;7.8e-05)|Epithelial(107;2.94e-108)|BRCA - Breast invasive adenocarcinoma(158;0.00154)|STAD - Stomach adenocarcinoma(1328;0.191)		CCCAGGACCCGCTCAAAGATC	0.652																																						ENST00000589123.1																			2	Substitution - coding silent(2)	p.P396P(2)	lung(2)	NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21						c.(1186-1188)ccG>ccA		nuclear factor I/C (CCAAT-binding transcription factor)		G	,	1,4405	2.1+/-5.4	0,1,2202	144	127	133		1215,1188	-1.1	1	19		133	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	NFIC	NM_005597.2,NM_205843.1	,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,	405/429,396/500	3452610	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	4782				DNA replication|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr19:3452610G>A	X12492	CCDS12107.1, CCDS45914.1, CCDS58640.1, CCDS59330.1, CCDS59331.1	19p13.3	2008-02-05				ENSG00000141905			7786	protein-coding gene	gene with protein product		600729		NFI		3398920, 7590749	Standard	NM_205843		Approved	CTF, NF-I, CTF5	uc010xhi.2	P08651		ENST00000443272.2:c.1215G>A	19.37:g.3452610G>A						NFIC_ENST00000346156.5_Silent_p.P372P|NFIC_ENST00000341919.3_Silent_p.P405P|NFIC_ENST00000590282.1_Silent_p.P405P|NFIC_ENST00000586919.1_Silent_p.P372P|NFIC_ENST00000443272.2_Silent_p.P405P|NFIC_ENST00000395111.3_Silent_p.P396P	p.P396P	NM_001245005.1|NM_205843.2	NP_001231934.1|NP_995315.1	P08651	NFIC_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;7.8e-05)|Epithelial(107;2.94e-108)|BRCA - Breast invasive adenocarcinoma(158;0.00154)|STAD - Stomach adenocarcinoma(1328;0.191)	8	1308	+		Hepatocellular(1079;0.137)	405					A8K1H0|B7Z4U5|B7Z9C3|K7EMU1|P08652|Q14932|Q9UPJ3|Q9UPJ9|Q9UPK0|Q9UPK1	Silent	SNP	ENST00000443272.2	37	c.1188G>A	CCDS59330.1																																																																																				0.652	NFIC-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452834.1	NM_005597		4	144	0	0	0	1	0	4	144					A	3452610	G	A	3452610	2	1	284	1	0	0	0	0	0	0	0	1	10372	1074	38	1		1	NFIC	19	3452610	Silent	SNP	G	TCGA-J4-AAU2-01A-11D-A41K-08		3452610	55676373	30	13083											
FUT3	2525	broad.mit.edu	37	chr19	5844538	5844538	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagtggtgcacgatgaccaTgtctgcctgtgggtacacct	7	10	12	12	1	1	1	0	1	1	0	1	2	1	1	4	2	3	2	4	2	1	1			TCGA-J4-AAU2-01A-11D-A41K-08	TCGA-J4-AAU2-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b340dd39-ff48-4c98-82af-93c100df68eb	845e0bb4-122b-47a9-b106-a8e658bec473	g.chr19:5844538T>C	ENST00000303225.6	-	3	947	c.313A>G	c.(313-315)Atg>Gtg	p.M105V	FUT3_ENST00000589620.1_Missense_Mutation_p.M105V|FUT3_ENST00000593144.1_5'Flank|AC024592.9_ENST00000589276.1_RNA|FUT3_ENST00000589918.1_Missense_Mutation_p.M105V|FUT3_ENST00000458379.2_Missense_Mutation_p.M105V	NM_000149.3	NP_000140	P21217	FUT3_HUMAN	fucosyltransferase 3 (galactoside 3(4)-L-fucosyltransferase, Lewis blood group)	105			T -> M (in Le(-); dbSNP:rs778986). {ECO:0000269|PubMed:15057824, ECO:0000269|PubMed:8240322, ECO:0000269|PubMed:8801770, ECO:0000269|PubMed:9268337, ECO:0000269|Ref.4, ECO:0000269|Ref.5}.		cell-cell recognition (GO:0009988)|fucosylation (GO:0036065)|macromolecule glycosylation (GO:0043413)|oligosaccharide biosynthetic process (GO:0009312)|protein glycosylation (GO:0006486)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity (GO:0017060)|alpha-(1->3)-fucosyltransferase activity (GO:0046920)|fucosyltransferase activity (GO:0008417)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(1)	14						ACGATGACCATGTCTGCCTGT	0.607																																					Esophageal Squamous(82;745 1728 24593 44831)	ENST00000303225.6																			0				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(1)	14						c.(313-315)Atg>Gtg		fucosyltransferase 3 (galactoside 3(4)-L-fucosyltransferase, Lewis blood group)							160	130	140					19																	5844538		2203	4300	6503	SO:0001583	missense	2525				protein glycosylation	Golgi cisterna membrane|integral to membrane|membrane fraction	3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity	g.chr19:5844538T>C		CCDS12153.1	19p13.3	2014-07-19	2006-01-12		ENSG00000171124	ENSG00000171124	2.4.1.65	"CD molecules", "Blood group antigens", "Fucosyltransferases"	4014	protein-coding gene	gene with protein product		111100	"fucosyltransferase 3 (galactoside 3(4)-L-fucosyltransferase, Lewis blood group included)"	LE		1977660, 1740457	Standard	NM_000149		Approved	CD174	uc002mdk.2	P21217	OTTHUMG00000180614	ENST00000303225.6:c.313A>G	19.37:g.5844538T>C	ENSP00000305603:p.Met105Val					FUT3_ENST00000589620.1_Missense_Mutation_p.M105V|FUT3_ENST00000458379.2_Missense_Mutation_p.M105V|FUT3_ENST00000589918.1_Missense_Mutation_p.M105V	p.M105V	NM_000149.3	NP_000140.1	P21217	FUT3_HUMAN			3	947	-			105		T -> M (in Le(-); dbSNP:rs778986).			B5U7U9|B5U7V0|Q32NE7|Q99448|Q99449	Missense_Mutation	SNP	ENST00000303225.6	37	c.313A>G	CCDS12153.1	.	.	.	.	.	.	.	.	.	.	C	8.993	0.978135	0.18812	.	.	ENSG00000171124	ENST00000303225;ENST00000458379	T;T	0.21734	1.99;1.99	2.24	1.14	0.20703	.	0.100459	0.41823	D	0.000807	T	0.04770	0.0129	N	0.00289	-1.7	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.38735	-0.9647	10	0.45353	T	0.12	.	8.9353	0.35695	0.0:0.8488:0.0:0.1512	.	105	B3GVC1	.	V	105	ENSP00000305603:M105V;ENSP00000416443:M105V	ENSP00000305603:M105V	M	-	1	0	FUT3	5795538	0.133000	0.22466	0.000000	0.03702	0.000000	0.00434	4.146000	0.58072	-0.133000	0.11537	-2.577000	0.00169	ATG		0.607	FUT3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452204.1	NM_000149		4	79	0	0	0	1	0	4	79					C	5844538	T	C	5844538	3	2	284	1	0	0	0	0	1	0	0	0	6105	1464	51	4	776	4	FUT3	19	5844538	Missense_Mutation	SNP	T	TCGA-J4-AAU2-01A-11D-A41K-08	2391928	5844538	53284445	31	13084											
GPR108	56927	broad.mit.edu	37	chr19	6732127	6732127	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtagtcgctggcgccttcctCgcgggactcgatgatgatgt	5	11	14	11	5	0	2	0	2	0	0	4	4	1	3	2	2	0	2	2	2	1	2	rs373940895	byFrequency	TCGA-J4-AAU2-01A-11D-A41K-08	TCGA-J4-AAU2-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b340dd39-ff48-4c98-82af-93c100df68eb	845e0bb4-122b-47a9-b106-a8e658bec473	g.chr19:6732127C>T	ENST00000264080.7	-	13	1191	c.1165G>A	c.(1165-1167)Gag>Aag	p.E389K	GPR108_ENST00000430424.4_Missense_Mutation_p.E147K|GPR108_ENST00000598626.1_5'Flank	NM_001080452.1	NP_001073921.1	Q9NPR9	GP108_HUMAN	G protein-coupled receptor 108	389						integral component of membrane (GO:0016021)				breast(2)|cervix(1)|large_intestine(4)|lung(4)|skin(1)|urinary_tract(1)	13						GCGCCTTCCTCGCGGGACTCG	0.647													C|||	2	0.000399361	0.0015	0	5008	,	,		19506	0		0	False		,,,				2504	0					ENST00000264080.7																			0				breast(2)|cervix(1)|large_intestine(4)|lung(4)|skin(1)|urinary_tract(1)	13						c.(1165-1167)Gag>Aag		G protein-coupled receptor 108		C	LYS/GLU	1,4319		0,1,2159	48	57	54		1165	4.6	0.8	19		54	0,8504		0,0,4252	no	missense	GPR108	NM_001080452.1	56	0,1,6411	TT,TC,CC		0.0,0.0231,0.0078	probably-damaging	389/544	6732127	1,12823	2160	4252	6412	SO:0001583	missense	56927					integral to membrane		g.chr19:6732127C>T		CCDS42479.1	19p13.3	2014-01-30				ENSG00000125734		"GPCR / Unclassified : 7TM orphan receptors"	17829	protein-coding gene	gene with protein product							Standard	NM_001080452		Approved	LUSTR2	uc002mfp.3	Q9NPR9	OTTHUMG00000170129	ENST00000264080.7:c.1165G>A	19.37:g.6732127C>T	ENSP00000264080:p.Glu389Lys					GPR108_ENST00000430424.4_Missense_Mutation_p.E147K	p.E389K	NM_001080452.1	NP_001073921.1	Q9NPR9	GP108_HUMAN			13	1191	-			389					B9EJD7	Missense_Mutation	SNP	ENST00000264080.7	37	c.1165G>A	CCDS42479.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.094478	0.76870	2.31E-4	0.0	ENSG00000125734	ENST00000264080;ENST00000550472;ENST00000430424	T	0.26223	1.75	4.61	4.61	0.57282	.	0.194409	0.30602	U	0.009277	T	0.53753	0.1816	M	0.83483	2.645	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.80764	0.994;0.97	T	0.61053	-0.7140	10	0.62326	D	0.03	0.2559	14.9384	0.70975	0.0:1.0:0.0:0.0	.	389;147	Q9NPR9;B9EK73	GP108_HUMAN;.	K	389;39;147	ENSP00000264080:E389K	ENSP00000264080:E389K	E	-	1	0	GPR108	6683127	1.000000	0.71417	0.814000	0.32528	0.176000	0.22953	5.212000	0.65225	2.104000	0.64026	0.491000	0.48974	GAG		0.647	GPR108-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407508.2			3	21	0	0	0	1	0	3	21					T	6732127	C	T	6732127	3	4	284	1	0	0	0	0	1	0	0	0	6624	893	31	2	490	2	GPR108	19	6732127	Missense_Mutation	SNP	C	TCGA-J4-AAU2-01A-11D-A41K-08	887589	6732127	52396856	32	13085											
ZFP112	7771	broad.mit.edu	37	chr19	44833292	44833292	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gataagttcataagtgttaaGaggggaacagtgattgaagt	15	11	13	2	0	1	3	1	2	0	1	1	5	1	4	0	2	1	2	0	2	5	5	rs549662674		TCGA-J4-AAU2-01A-11D-A41K-08	TCGA-J4-AAU2-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b340dd39-ff48-4c98-82af-93c100df68eb	845e0bb4-122b-47a9-b106-a8e658bec473	g.chr19:44833292G>C	ENST00000337401.4	-	5	1124	c.1036C>G	c.(1036-1038)Ctt>Gtt	p.L346V	ZNF112_ENST00000354340.4_Missense_Mutation_p.L340V|ZNF112_ENST00000536500.1_Missense_Mutation_p.L363V	NM_001083335.1	NP_001076804.1	Q9UJU3	ZN112_HUMAN	zinc finger protein 112	346					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)										TAAGTGTTAAGAGGGGAACAG	0.378																																						ENST00000354340.4																			0											c.(1018-1020)Ctt>Gtt		zinc finger protein 112							121	102	109					19																	44833292		2203	4300	6503	SO:0001583	missense	7665							g.chr19:44833292G>C	AF198358		19q13.2	2014-02-06	2012-11-27		ENSG00000062370	ENSG00000062370		"Zinc fingers, C2H2-type"	12892	protein-coding gene	gene with protein product		603994	"zinc finger protein 112 homolog (mouse)", "zinc finger protein 228"	ZFP112, ZNF228			Standard	NM_013380		Approved			Q9UJU3	OTTHUMG00000182357	ENST00000337401.4:c.1036C>G	19.37:g.44833292G>C	ENSP00000337081:p.Leu346Val					ZNF112_ENST00000337401.4_Missense_Mutation_p.L346V|ZNF112_ENST00000536500.1_Missense_Mutation_p.L363V	p.L340V	NM_013380.3	NP_037512.3					4	1069	-								A4FU53|Q9HCA7	Missense_Mutation	SNP	ENST00000337401.4	37	c.1018C>G	CCDS54276.1	.	.	.	.	.	.	.	.	.	.	G	10.36	1.329556	0.24167	.	.	ENSG00000062370	ENST00000337401;ENST00000412927;ENST00000354340;ENST00000536500;ENST00000253426	T;T;T	0.26957	1.7;1.7;1.7	4.85	1.34	0.21922	Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.36608	0.0973	M	0.90309	3.105	0.09310	N	1	B;B;B	0.19445	0.036;0.029;0.017	B;B;B	0.17098	0.01;0.017;0.007	T	0.40001	-0.9586	9	0.72032	D	0.01	1.9875	10.5544	0.45107	0.0:0.2706:0.5893:0.1401	.	345;363;346	B4DYT4;F5GWS7;Q9UJU3	.;.;ZF112_HUMAN	V	346;346;340;363;345	ENSP00000337081:L346V;ENSP00000346305:L340V;ENSP00000441990:L363V	ENSP00000253426:L345V	L	-	1	0	ZNF285	49525132	0.000000	0.05858	0.001000	0.08648	0.002000	0.02628	0.660000	0.25009	0.296000	0.22592	-0.305000	0.09177	CTT		0.378	ZNF112-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460744.1	NM_013380		6	58	0	0	0	1	0	6	58					C	44833292	G	C	44833292	3	2	284	1	0	0	0	0	1	0	0	0	17635	942	33	5	1709	5	ZFP112	19	44833292	Missense_Mutation	SNP	G	TCGA-J4-AAU2-01A-11D-A41K-08	38101165	44833292	14295691	33	13086											
LILRB1	10859	broad.mit.edu	37	chr19	55144611	55144611	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcagctgatgacccatggcGtctaagatcaacgtaccaat	12	8	10	11	2	2	3	1	2	1	1	2	3	2	3	2	2	3	3	2	2	4	2	rs376255659		TCGA-J4-AAU2-01A-11D-A41K-08	TCGA-J4-AAU2-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b340dd39-ff48-4c98-82af-93c100df68eb	845e0bb4-122b-47a9-b106-a8e658bec473	g.chr19:55144611G>A	ENST00000396331.1	+	8	1460	c.1103G>A	c.(1102-1104)cGt>cAt	p.R368H	LILRB1_ENST00000396315.1_Missense_Mutation_p.R368H|LILRB1_ENST00000448689.1_Missense_Mutation_p.R368H|LILRB1_ENST00000396332.4_Missense_Mutation_p.R368H|LILRB1_ENST00000434867.2_Missense_Mutation_p.R368H|LILRB1_ENST00000396317.1_Missense_Mutation_p.R368H|LILRB1_ENST00000427581.2_Missense_Mutation_p.R404H|LILRB1_ENST00000396321.2_Missense_Mutation_p.R368H|LILRB1_ENST00000324602.7_Missense_Mutation_p.R368H|LILRB1_ENST00000396327.3_Missense_Mutation_p.R368H|LILRB1_ENST00000462628.1_3'UTR|LILRB1_ENST00000418536.2_Missense_Mutation_p.R368H	NM_006669.3	NP_006660.3	Q8NHL6	LIRB1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1	368	Ig-like C2-type 4.				cellular response to lipopolysaccharide (GO:0071222)|defense response to virus (GO:0051607)|dendritic cell differentiation (GO:0097028)|Fc receptor mediated inhibitory signaling pathway (GO:0002774)|immune response-inhibiting cell surface receptor signaling pathway (GO:0002767)|interferon-gamma production (GO:0032609)|interferon-gamma secretion (GO:0072643)|negative regulation of alpha-beta T cell activation (GO:0046636)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of CD8-positive, alpha-beta T cell activation (GO:2001186)|negative regulation of cell cycle (GO:0045786)|negative regulation of cytokine secretion involved in immune response (GO:0002740)|negative regulation of dendritic cell apoptotic process (GO:2000669)|negative regulation of dendritic cell differentiation (GO:2001199)|negative regulation of endocytosis (GO:0045806)|negative regulation of interferon-beta secretion (GO:0035548)|negative regulation of interferon-gamma biosynthetic process (GO:0045077)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-10 secretion (GO:2001180)|negative regulation of interleukin-12 secretion (GO:2001183)|negative regulation of mononuclear cell proliferation (GO:0032945)|negative regulation of natural killer cell mediated cytotoxicity (GO:0045953)|negative regulation of osteoclast development (GO:2001205)|negative regulation of serotonin secretion (GO:0014063)|negative regulation of T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell (GO:2001189)|negative regulation of T cell mediated cytotoxicity (GO:0001915)|negative regulation of T cell proliferation (GO:0042130)|negative regulation of transforming growth factor-beta secretion (GO:2001202)|negative regulation of tumor necrosis factor biosynthetic process (GO:0042536)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cytolysis (GO:0045919)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of gamma-delta T cell activation involved in immune response (GO:2001193)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|receptor internalization (GO:0031623)|regulation of immune response (GO:0050776)|response to virus (GO:0009615)|signal transduction (GO:0007165)|T cell proliferation involved in immune response (GO:0002309)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	HLA-A specific inhibitory MHC class I receptor activity (GO:0030107)|HLA-B specific inhibitory MHC class I receptor activity (GO:0030109)|MHC class I protein binding (GO:0042288)|MHC class I receptor activity (GO:0032393)|protein homodimerization activity (GO:0042803)|protein phosphatase 1 binding (GO:0008157)|SH2 domain binding (GO:0042169)	p.R368P(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	74				GBM - Glioblastoma multiforme(193;0.0188)		GACCCATGGCGTCTAAGATCA	0.557										HNSCC(37;0.09)			a|||	1	0.000199681	0	0	5008	,	,		17776	0		0	False		,,,				2504	0.001					ENST00000396331.1																			1	Substitution - Missense(1)	p.R368P(1)	breast(1)	NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	74						c.(1102-1104)cGt>cAt		leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1							112	121	118					19																	55144611		2203	4300	6503	SO:0001583	missense	0				regulation of immune response|response to virus	integral to membrane|plasma membrane	protein phosphatase 1 binding|receptor activity	g.chr19:55144611G>A	AF009220	CCDS42614.1, CCDS42615.1, CCDS42616.1, CCDS42617.1, CCDS62803.1	19q13.4	2013-01-11						"Leukocyte immunoglobulin-like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6605	protein-coding gene	gene with protein product		604811				9285411, 9382880	Standard	XM_006726246		Approved	LIR-1, ILT2, MIR-7, CD85, LIR1, CD85j	uc002qgm.3	Q8NHL6		ENST00000396331.1:c.1103G>A	19.37:g.55144611G>A	ENSP00000379622:p.Arg368His	HNSCC(37;0.09)				LILRB1_ENST00000396332.4_Missense_Mutation_p.R368H|LILRB1_ENST00000418536.2_Missense_Mutation_p.R368H|LILRB1_ENST00000396315.1_Missense_Mutation_p.R368H|LILRB1_ENST00000462628.1_3'UTR|LILRB1_ENST00000396327.3_Missense_Mutation_p.R368H|LILRB1_ENST00000427581.2_Missense_Mutation_p.R404H|LILRB1_ENST00000396317.1_Missense_Mutation_p.R368H|LILRB1_ENST00000434867.2_Missense_Mutation_p.R368H|LILRB1_ENST00000396321.2_Missense_Mutation_p.R368H|LILRB1_ENST00000324602.7_Missense_Mutation_p.R368H|LILRB1_ENST00000448689.1_Missense_Mutation_p.R368H	p.R368H	NM_006669.3	NP_006660.3	Q8NHL6	LIRB1_HUMAN		GBM - Glioblastoma multiforme(193;0.0188)	8	1460	+			368			Ig-like C2-type 4.		A2IXV4|A8MXT0|O75024|O75025|Q8NHJ9|Q8NHK0	Missense_Mutation	SNP	ENST00000396331.1	37	c.1103G>A	CCDS42617.1	.	.	.	.	.	.	.	.	.	.	A	3.340	-0.134886	0.06711	.	.	ENSG00000104972	ENST00000396321;ENST00000418536;ENST00000448689;ENST00000396331;ENST00000396327;ENST00000324602;ENST00000434867;ENST00000396332;ENST00000427581;ENST00000396317;ENST00000396315	T;T;T;T;T;T;T;T;T;T;T	0.03035	4.07;4.07;4.07;4.07;4.07;4.07;4.07;4.07;4.07;4.07;4.07	2.08	-4.16	0.03869	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.707422	0.12047	N	0.504514	T	0.02807	0.0084	L	0.35487	1.065	0.09310	N	1	B;B;B;B;B	0.22683	0.013;0.005;0.073;0.005;0.003	B;B;B;B;B	0.19946	0.013;0.008;0.027;0.008;0.013	T	0.38607	-0.9653	10	0.32370	T	0.25	.	7.8613	0.29511	0.5795:0.0:0.4205:0.0	.	368;368;368;368;368	A8MVE2;Q8NHL6-3;A2IXV4;Q8NHL6-2;Q8NHL6	.;.;.;.;LIRB1_HUMAN	H	368;368;368;368;368;368;368;368;404;368;368	ENSP00000379614:R368H;ENSP00000391514:R368H;ENSP00000409968:R368H;ENSP00000379622:R368H;ENSP00000379618:R368H;ENSP00000315997:R368H;ENSP00000405243:R368H;ENSP00000379623:R368H;ENSP00000395004:R404H;ENSP00000379610:R368H;ENSP00000379608:R368H	ENSP00000315997:R368H	R	+	2	0	LILRB1	59836423	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.342000	0.02645	-1.193000	0.02688	-4.466000	0.00005	CGT		0.557	LILRB1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000140796.4			27	30	0	0	0	1	0	27	30					A	55144611	G	A	55144611	3	1	284	1	0	0	0	0	1	0	0	0	8790	1145	40	1	1125	1	LILRB1	19	55144611	Missense_Mutation	SNP	G	TCGA-J4-AAU2-01A-11D-A41K-08	10311319	55144611	3984372	34	13087											
ZNF544	27300	broad.mit.edu	37	chr19	58772618	58772618	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atgggaagcactgtgagagtCatcagtgtgctagagctttc	10	11	13	7	0	2	2	2	1	0	2	3	4	2	3	0	1	3	3	0	1	2	2	rs565406296		TCGA-J4-AAU2-01A-11D-A41K-08	TCGA-J4-AAU2-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b340dd39-ff48-4c98-82af-93c100df68eb	845e0bb4-122b-47a9-b106-a8e658bec473	g.chr19:58772618C>T	ENST00000596652.1	+	6	880	c.646C>T	c.(646-648)Cat>Tat	p.H216Y	ZNF544_ENST00000600220.1_Missense_Mutation_p.H188Y|CTD-3138B18.5_ENST00000597230.1_RNA|ZNF544_ENST00000269829.4_Missense_Mutation_p.H216Y|ZNF544_ENST00000599227.1_3'UTR|ZNF544_ENST00000599953.1_Missense_Mutation_p.H74Y|ZNF544_ENST00000596825.1_3'UTR|ZNF544_ENST00000600044.1_Missense_Mutation_p.H188Y|ZNF544_ENST00000595981.1_Intron|ZNF544_ENST00000415203.2_Missense_Mutation_p.H188Y|ZNF544_ENST00000596929.1_Intron|CTD-3138B18.4_ENST00000600029.1_Intron			Q6NX49	ZN544_HUMAN	zinc finger protein 544	216					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|pancreas(1)|skin(1)|urinary_tract(1)	18		all_cancers(17;4.17e-12)|all_epithelial(17;1.25e-08)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.17)|GBM - Glioblastoma multiforme(193;0.018)		CTGTGAGAGTCATCAGTGTGC	0.378																																						ENST00000269829.4																			0				NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|pancreas(1)|skin(1)|urinary_tract(1)	18						c.(646-648)Cat>Tat		zinc finger protein 544							63	64	64					19																	58772618		2203	4300	6503	SO:0001583	missense	27300				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58772618C>T	AF020591	CCDS12973.1	19q13.43	2013-01-08				ENSG00000198131		"Zinc fingers, C2H2-type", "-"	16759	protein-coding gene	gene with protein product	"zinc finger protein AF020591"						Standard	NM_014480		Approved	AF020591	uc010euo.3	Q6NX49		ENST00000596652.1:c.646C>T	19.37:g.58772618C>T	ENSP00000469635:p.His216Tyr					ZNF544_ENST00000415203.2_Missense_Mutation_p.H188Y|ZNF544_ENST00000596652.1_Missense_Mutation_p.H216Y|ZNF544_ENST00000600220.1_Missense_Mutation_p.H188Y|ZNF544_ENST00000599227.1_3'UTR|ZNF544_ENST00000599953.1_Missense_Mutation_p.H74Y|ZNF544_ENST00000596825.1_3'UTR|ZNF544_ENST00000600044.1_Missense_Mutation_p.H188Y|CTD-3138B18.4_ENST00000600029.1_Intron|ZNF544_ENST00000595981.1_Intron|ZNF544_ENST00000596929.1_Intron|CTD-3138B18.5_ENST00000597230.1_RNA	p.H216Y	NM_014480.2	NP_055295.2	Q6NX49	ZN544_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.17)|GBM - Glioblastoma multiforme(193;0.018)	7	1120	+		all_cancers(17;4.17e-12)|all_epithelial(17;1.25e-08)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156)	216					A8K6J1|Q9UEX4	Missense_Mutation	SNP	ENST00000596652.1	37	c.646C>T	CCDS12973.1	.	.	.	.	.	.	.	.	.	.	C	8.965	0.971437	0.18736	.	.	ENSG00000198131	ENST00000269829;ENST00000415203	T;T	0.07021	3.28;3.23	3.41	-6.83	0.01693	.	.	.	.	.	T	0.04679	0.0127	L	0.41492	1.28	0.09310	N	1	B;B;B	0.19073	0.001;0.016;0.033	B;B;B	0.10450	0.001;0.002;0.005	T	0.43360	-0.9396	9	0.28530	T	0.3	.	0.3754	0.00386	0.2425:0.1554:0.2399:0.3621	.	188;188;216	B7ZAY1;B4DL50;Q6NX49	.;.;ZN544_HUMAN	Y	216;188	ENSP00000269829:H216Y;ENSP00000394341:H188Y	ENSP00000269829:H216Y	H	+	1	0	ZNF544	63464430	0.000000	0.05858	0.000000	0.03702	0.014000	0.08584	-0.967000	0.03821	-1.245000	0.02513	-0.208000	0.12717	CAT		0.378	ZNF544-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466754.1	NM_014480		28	48	0	0	0	1	0	28	48					T	58772618	C	T	58772618	3	4	284	1	0	0	0	0	1	0	0	0	17974	826	29	3	660	3	ZNF544	19	58772618	Missense_Mutation	SNP	C	TCGA-J4-AAU2-01A-11D-A41K-08	3628007	58772618	356365	35	13088											
PLAGL2	5326	broad.mit.edu	37	chr20	30784514	30784514	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtaggtgggagaagtccacaTtagcagcgcagagggcctca	11	6	15	9	1	1	2	1	0	0	2	2	3	2	2	2	3	2	3	2	3	3	2			TCGA-J4-AAU2-01A-11D-A41K-08	TCGA-J4-AAU2-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b340dd39-ff48-4c98-82af-93c100df68eb	845e0bb4-122b-47a9-b106-a8e658bec473	g.chr20:30784514T>C	ENST00000246229.4	-	3	1496	c.1232A>G	c.(1231-1233)aAt>aGt	p.N411S		NM_002657.3	NP_002648.1	Q9UPG8	PLAL2_HUMAN	pleiomorphic adenoma gene-like 2	411					chylomicron assembly (GO:0034378)|lipid metabolic process (GO:0006629)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|post-embryonic development (GO:0009791)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|cervix(1)|endometrium(2)|kidney(2)|liver(1)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	21			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			GAAGTCCACATTAGCAGCGCA	0.647																																					Colon(163;15 1893 11280 16306 47518)	ENST00000246229.4																			0				breast(1)|cervix(1)|endometrium(2)|kidney(2)|liver(1)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	21						c.(1231-1233)aAt>aGt		pleiomorphic adenoma gene-like 2							28	29	29					20																	30784514		2202	4300	6502	SO:0001583	missense	5326					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr20:30784514T>C		CCDS13197.1	20q11.21	2013-01-08			ENSG00000126003	ENSG00000126003		"Zinc fingers, C2H2-type"	9047	protein-coding gene	gene with protein product	"C2H2-type zinc finger protein"	604866				15585652, 17950244	Standard	NM_002657		Approved	ZNF900	uc002wxn.2	Q9UPG8	OTTHUMG00000032210	ENST00000246229.4:c.1232A>G	20.37:g.30784514T>C	ENSP00000246229:p.Asn411Ser						p.N411S	NM_002657.3	NP_002648.1	Q9UPG8	PLAL2_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)		3	1496	-			411					A8K8T5|E1P5M3|Q92584	Missense_Mutation	SNP	ENST00000246229.4	37	c.1232A>G	CCDS13197.1	.	.	.	.	.	.	.	.	.	.	T	3.953	-0.011816	0.07727	.	.	ENSG00000126003	ENST00000246229	T	0.08458	3.09	4.99	4.99	0.66335	.	0.000000	0.85682	D	0.000000	T	0.03915	0.0110	N	0.13235	0.315	0.45621	D	0.998559	B	0.29862	0.259	B	0.19666	0.026	T	0.22103	-1.0226	10	0.02654	T	1	.	10.9589	0.47374	0.0:0.0:0.1564:0.8436	.	411	Q9UPG8	PLAL2_HUMAN	S	411	ENSP00000246229:N411S	ENSP00000246229:N411S	N	-	2	0	PLAGL2	30248175	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.844000	0.62846	2.095000	0.63458	0.528000	0.53228	AAT		0.647	PLAGL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078615.2	NM_002657		4	17	0	0	0	1	0	4	17					C	30784514	T	C	30784514	3	2	284	1	0	0	0	0	1	0	0	0	12020	1493	52	4	262	4	PLAGL2	20	30784514	Missense_Mutation	SNP	T	TCGA-J4-AAU2-01A-11D-A41K-08		30784514	32241006	36	13089											
MMP9	4318	broad.mit.edu	37	chr20	44641960	44641960	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagcccacggctcccccgaCggtctgccccaccggacccc	5	3	10	23	4	1	0	0	0	1	0	2	2	2	1	8	3	2	2	8	3	0	0			TCGA-J4-AAU2-01A-11D-A41K-08	TCGA-J4-AAU2-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b340dd39-ff48-4c98-82af-93c100df68eb	845e0bb4-122b-47a9-b106-a8e658bec473	g.chr20:44641960C>T	ENST00000372330.3	+	9	1416	c.1397C>T	c.(1396-1398)aCg>aTg	p.T466M	RP11-465L10.10_ENST00000535913.1_RNA	NM_004994.2	NP_004985.2	P14780	MMP9_HUMAN	matrix metallopeptidase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase)	466					collagen catabolic process (GO:0030574)|embryo implantation (GO:0007566)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|leukocyte migration (GO:0050900)|macrophage differentiation (GO:0030225)|negative regulation of cation channel activity (GO:2001258)|ossification (GO:0001503)|positive regulation of apoptotic process (GO:0043065)|positive regulation of keratinocyte migration (GO:0051549)|positive regulation of receptor binding (GO:1900122)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	collagen binding (GO:0005518)|identical protein binding (GO:0042802)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.T466M(1)		breast(2)|endometrium(4)|large_intestine(14)|liver(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(3)	46		Myeloproliferative disorder(115;0.0122)			Captopril(DB01197)|Glucosamine(DB01296)|Marimastat(DB00786)|Minocycline(DB01017)	GCTCCCCCGACGGTCTGCCCC	0.682											OREG0025990	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000372330.3																			1	Substitution - Missense(1)	p.T466M(1)	large_intestine(1)	breast(2)|endometrium(4)|large_intestine(14)|liver(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(3)	46						c.(1396-1398)aCg>aTg		matrix metallopeptidase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase)	Glucosamine(DB01296)|Marimastat(DB00786)|Minocycline(DB01017)|Simvastatin(DB00641)						44	59	54					20																	44641960		2186	4273	6459	SO:0001583	missense	4318				collagen catabolic process|macrophage differentiation|positive regulation of keratinocyte migration|proteolysis	extracellular space|proteinaceous extracellular matrix	collagen binding|metalloendopeptidase activity|zinc ion binding	g.chr20:44641960C>T		CCDS13390.1	20q12-q13	2008-01-07	2005-08-08		ENSG00000100985	ENSG00000100985	3.4.24.35		7176	protein-coding gene	gene with protein product		120361	"matrix metalloproteinase 9 (gelatinase B, 92kD gelatinase, 92kD type IV collagenase)", "matrix metalloproteinase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase)"	CLG4B		2158484	Standard	NM_004994		Approved		uc002xqz.3	P14780	OTTHUMG00000033044	ENST00000372330.3:c.1397C>T	20.37:g.44641960C>T	ENSP00000361405:p.Thr466Met		OREG0025990	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	925		p.T466M	NM_004994.2	NP_004985.2	P14780	MMP9_HUMAN			9	1416	+		Myeloproliferative disorder(115;0.0122)	466					B2R7V9|Q3LR70|Q8N725|Q9H4Z1|Q9UCJ9|Q9UCL1|Q9UDK2	Missense_Mutation	SNP	ENST00000372330.3	37	c.1397C>T	CCDS13390.1	.	.	.	.	.	.	.	.	.	.	C	12.44	1.938940	0.34189	.	.	ENSG00000100985	ENST00000372330;ENST00000545925	T	0.22134	1.97	4.63	3.62	0.41486	.	.	.	.	.	T	0.19604	0.0471	N	0.14661	0.345	0.09310	N	1	D	0.69078	0.997	P	0.50231	0.635	T	0.11494	-1.0585	9	0.45353	T	0.12	.	13.8455	0.63466	0.1634:0.8366:0.0:0.0	.	466	P14780	MMP9_HUMAN	M	466;111	ENSP00000361405:T466M	ENSP00000361405:T466M	T	+	2	0	MMP9	44075367	0.002000	0.14202	0.027000	0.17364	0.157000	0.22087	0.842000	0.27627	2.376000	0.81061	0.655000	0.94253	ACG		0.682	MMP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080337.1			4	61	0	0	0	1	0	4	61					T	44641960	C	T	44641960	3	4	284	1	0	0	0	0	1	0	0	0	9669	536	19	1	1431	1	MMP9	20	44641960	Missense_Mutation	SNP	C	TCGA-J4-AAU2-01A-11D-A41K-08	13857446	44641960	18383560	37	13090											
FGF16	8823	broad.mit.edu	37	chrX	76711832	76711832	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	aaactggtacaacacctatgCctcaaccttgtacaaacatt	15	10	4	12	0	1	0	1	0	0	0	1	0	1	0	3	1	7	2	3	1	7	5			TCGA-J4-AAU2-01A-11D-A41K-08	TCGA-J4-AAU2-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b340dd39-ff48-4c98-82af-93c100df68eb	845e0bb4-122b-47a9-b106-a8e658bec473	g.chrX:76711832C>A	ENST00000439435.1	+	2	169	c.169C>A	c.(169-171)Cct>Act	p.P57T				O43320	FGF16_HUMAN	fibroblast growth factor 16	0					cell-cell signaling (GO:0007267)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|metabolic process (GO:0008152)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of brown fat cell proliferation (GO:0070349)|response to temperature stimulus (GO:0009266)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	growth factor activity (GO:0008083)			NS(1)|breast(1)|lung(2)	4						AACACCTATGCCTCAACCTTG	0.458																																						ENST00000439435.1																			0				NS(1)|breast(1)|lung(2)	4						c.(169-171)Cct>Act		fibroblast growth factor 16							104	99	100					X																	76711832		1909	4109	6018	SO:0001583	missense	8823				cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|metabolic process|organ morphogenesis|response to temperature stimulus	extracellular space	growth factor activity	g.chrX:76711832C>A	AB009391	CCDS75996.1	Xq21.1	2014-01-31			ENSG00000196468	ENSG00000196468			3672	protein-coding gene	gene with protein product		300827	"metacarpal 4-5 fusion"	MF4		9473496, 11474196, 23709756	Standard	NM_003868		Approved		uc011mqp.2	O43320	OTTHUMG00000013133	ENST00000439435.1:c.169C>A	X.37:g.76711832C>A	ENSP00000399324:p.Pro57Thr						p.P57T			O43320	FGF16_HUMAN			2	169	+			0						Missense_Mutation	SNP	ENST00000439435.1	37	c.169C>A		.	.	.	.	.	.	.	.	.	.	C	21.4	4.142316	0.77775	.	.	ENSG00000196468	ENST00000439435	.	.	.	5.6	5.6	0.85130	.	.	.	.	.	T	0.75766	0.3894	.	.	.	.	.	.	.	.	.	.	.	.	T	0.74870	-0.3517	3	.	.	.	.	18.5922	0.91217	0.0:1.0:0.0:0.0	.	.	.	.	T	57	.	.	P	+	1	0	FGF16	76598488	1.000000	0.71417	0.998000	0.56505	0.984000	0.73092	7.582000	0.82546	2.334000	0.79466	0.600000	0.82982	CCT		0.458	FGF16-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000036814.1	NM_003868		6	39	1	0	0.00307968	1	0.00334178	6	39					A	76711832	C	A	76711832	3	1	284	1	0	0	0	0	1	0	0	0	5844	739	26	5	176	5	FGF16	23	76711832	Missense_Mutation	SNP	C	TCGA-J4-AAU2-01A-11D-A41K-08		76711832	78558728	38	13091											
ATRX	546	broad.mit.edu	37	chrX	76845372	76845372	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctaattcaagaaaatcttcaAtcaagtccagagatatgagg	17	10	7	7	0	4	3	3	1	1	2	5	4	5	3	1	1	0	0	1	1	7	4	rs122445110		TCGA-J4-AAU2-01A-11D-A41K-08	TCGA-J4-AAU2-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b340dd39-ff48-4c98-82af-93c100df68eb	845e0bb4-122b-47a9-b106-a8e658bec473	g.chrX:76845372A>C	ENST00000373344.5	-	27	6363	c.6149T>G	c.(6148-6150)aTt>aGt	p.I2050S	ATRX_ENST00000395603.3_Missense_Mutation_p.I2012S|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	2050	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.|Interaction with MECP2.		I -> T (in MRXSHF1; originally reported as Carpenter-Waziri syndrome). {ECO:0000269|PubMed:10398237}.		ATP catabolic process (GO:0006200)|cellular response to hydroxyurea (GO:0072711)|chromatin remodeling (GO:0006338)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA methylation (GO:0006306)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication-independent nucleosome assembly (GO:0006336)|forebrain development (GO:0030900)|negative regulation of telomeric RNA transcription from RNA pol II promoter (GO:1901581)|nucleosome assembly (GO:0006334)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|replication fork processing (GO:0031297)|seminiferous tubule development (GO:0072520)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear heterochromatin (GO:0005720)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF superfamily-type complex (GO:0070603)|telomeric heterochromatin (GO:0031933)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|helicase activity (GO:0004386)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						AAAATCTTCAATCAAGTCCAG	0.333			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome																															ENST00000373344.5				Rec	yes		X	Xq21.1	546	"Mis, F, N"	alpha thalassemia/mental retardation syndrome X-linked	yes	ATR-X (alpha thalassemia/mental retardation) syndrome	E			"Pancreatic neuroendocrine tumors, paediatric GBM"		1	Unknown(1)	p.?(1)	bone(1)	bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145	GRCh37	CM990282	ATRX	M	rs122445110	c.(6148-6150)aTt>aGt		alpha thalassemia/mental retardation syndrome X-linked	Phosphatidylserine(DB00144)						56	53	54					X																	76845372		2203	4292	6495	SO:0001583	missense	546				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	g.chrX:76845372A>C	U72937	CCDS14434.1, CCDS14435.1	Xq21.1	2014-06-17	2010-06-24		ENSG00000085224	ENSG00000085224			886	protein-coding gene	gene with protein product	"RAD54 homolog (S. cerevisiae)"	300032	"alpha thalassemia/mental retardation syndrome X-linked (RAD54 (S. cerevisiae) homolog)", "Juberg-Marsidi syndrome"	RAD54, JMS		7874112, 1415255, 8503439, 8630485	Standard	NM_000489		Approved	XH2, XNP	uc004ecp.4	P46100	OTTHUMG00000022686	ENST00000373344.5:c.6149T>G	X.37:g.76845372A>C	ENSP00000362441:p.Ile2050Ser					ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Missense_Mutation_p.I2012S	p.I2050S	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN			27	6363	-			2050		I -> T (in MRXSHF1; originally reported as Carpenter-Waziri syndrome).	Helicase C-terminal.		D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Missense_Mutation	SNP	ENST00000373344.5	37	c.6149T>G	CCDS14434.1	.	.	.	.	.	.	.	.	.	.	A	16.92	3.256629	0.59321	.	.	ENSG00000085224	ENST00000373344;ENST00000395603	D;D	0.93547	-3.24;-3.24	5.28	5.28	0.74379	Helicase, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.96589	0.8887	H	0.95574	3.69	0.80722	D	1	D;D	0.55605	0.963;0.972	P;P	0.51701	0.649;0.677	D	0.97350	0.9963	10	0.87932	D	0	-3.4812	13.9752	0.64268	1.0:0.0:0.0:0.0	.	2012;2050	P46100-4;P46100	.;ATRX_HUMAN	S	2050;2012	ENSP00000362441:I2050S;ENSP00000378967:I2012S	ENSP00000362441:I2050S	I	-	2	0	ATRX	76732028	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.817000	0.91985	1.762000	0.52044	0.425000	0.28330	ATT		0.333	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489		17	9	0	0	0	1	0	17	9					C	76845372	A	C	76845372	3	2	284	1	0	0	0	0	1	0	0	0	1208	101	4	5	1365	5	ATRX	23	76845372	Missense_Mutation	SNP	A	TCGA-J4-AAU2-01A-11D-A41K-08	133540	76845372	78425188	39	13092											
SLC45A1	50651	broad.mit.edu	37	chr1	8390702	8390702	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcattgactgcttcacgggCggccacgacagctacctggc	7	8	11	15	3	2	1	2	1	0	0	2	2	2	1	2	3	3	2	2	3	1	3	rs368992612		TCGA-J9-A52B-01A-11D-A26M-08	TCGA-J9-A52B-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97303517-3824-482e-b245-cd3da03be6f1	6660b8f2-95ae-4689-a6e0-ed2edba45ccf	g.chr1:8390702C>T	ENST00000471889.1	+	5	1534	c.1149C>T	c.(1147-1149)ggC>ggT	p.G383G	Y_RNA_ENST00000516445.1_RNA|SLC45A1_ENST00000377479.2_Silent_p.G417G|SLC45A1_ENST00000481265.1_3'UTR|SLC45A1_ENST00000289877.8_Silent_p.G383G			Q9Y2W3	S45A1_HUMAN	solute carrier family 45, member 1	383					carbohydrate transport (GO:0008643)	integral component of membrane (GO:0016021)	symporter activity (GO:0015293)			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(2)	33	Ovarian(185;0.0661)|all_lung(157;0.127)	all_epithelial(116;1.22e-15)|all_lung(118;0.000147)|Lung NSC(185;0.000251)|Renal(390;0.000469)|Colorectal(325;0.00578)|Breast(348;0.00686)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;3.95e-66)|GBM - Glioblastoma multiforme(8;5.93e-33)|Colorectal(212;2.86e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|Kidney(185;5.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|KIRC - Kidney renal clear cell carcinoma(229;0.000979)|STAD - Stomach adenocarcinoma(132;0.00199)|READ - Rectum adenocarcinoma(331;0.0649)		GCTTCACGGGCGGCCACGACA	0.662																																						ENST00000471889.1																			0				central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(2)	33						c.(1147-1149)ggC>ggT		solute carrier family 45, member 1		C		1,4405	2.1+/-5.4	0,1,2202	41	42	41		1149	-9.3	0.2	1		41	0,8600		0,0,4300	no	coding-synonymous	SLC45A1	NM_001080397.1		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		383/749	8390702	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	50651				carbohydrate transport	integral to membrane	symporter activity	g.chr1:8390702C>T	AF118274	CCDS30577.1	1p36.23	2014-01-28	2005-10-04	2005-10-04	ENSG00000162426	ENSG00000162426		"Solute carriers"	17939	protein-coding gene	gene with protein product	"H+/sugar symporter"	605763	"deleted in neuroblastoma 5"	DNB5		10729226	Standard	XM_005263467		Approved		uc001apb.3	Q9Y2W3	OTTHUMG00000000503	ENST00000471889.1:c.1149C>T	1.37:g.8390702C>T						SLC45A1_ENST00000377479.2_Silent_p.G417G|SLC45A1_ENST00000289877.8_Silent_p.G383G|SLC45A1_ENST00000481265.1_3'UTR	p.G383G			Q9Y2W3	S45A1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;3.95e-66)|GBM - Glioblastoma multiforme(8;5.93e-33)|Colorectal(212;2.86e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|Kidney(185;5.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|KIRC - Kidney renal clear cell carcinoma(229;0.000979)|STAD - Stomach adenocarcinoma(132;0.00199)|READ - Rectum adenocarcinoma(331;0.0649)	5	1534	+	Ovarian(185;0.0661)|all_lung(157;0.127)	all_epithelial(116;1.22e-15)|all_lung(118;0.000147)|Lung NSC(185;0.000251)|Renal(390;0.000469)|Colorectal(325;0.00578)|Breast(348;0.00686)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11)	383					Q5VY46|Q5VY49	Silent	SNP	ENST00000471889.1	37	c.1149C>T	CCDS30577.1																																																																																				0.662	SLC45A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001245.5			33	46	0	0	0	1	0	33	46					T	8390702	C	T	8390702	2	4	285	1	0	0	0	0	0	0	0	1	14640	755	27	1		1	SLC45A1	1	8390702	Silent	SNP	C	TCGA-J9-A52B-01A-11D-A26M-08		8390702	240859919	1	13093											
TCEB3	6924	broad.mit.edu	37	chr1	24075567	24075567	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	attacagtagacattcttgcGgtaagaactgtgtgacttta	12	14	9	6	1	1	3	0	1	1	2	1	3	1	3	0	1	3	2	0	1	5	7			TCGA-J9-A52B-01A-11D-A26M-08	TCGA-J9-A52B-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97303517-3824-482e-b245-cd3da03be6f1	6660b8f2-95ae-4689-a6e0-ed2edba45ccf	g.chr1:24075567G>A	ENST00000418390.2	+	2	481	c.210G>A	c.(208-210)gcG>gcA	p.A70A	TCEB3_ENST00000609199.1_Splice_Site_p.A44A|TCEB3_ENST00000487554.1_3'UTR	NM_003198.2	NP_003189.2	Q14241	ELOA1_HUMAN	transcription elongation factor B (SIII), polypeptide 3 (110kDa, elongin A)	70	TFIIS N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00649}.				gene expression (GO:0010467)|positive regulation of viral transcription (GO:0050434)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	19		Colorectal(325;3.46e-05)|Lung NSC(340;0.000112)|all_lung(284;0.00016)|Renal(390;0.000219)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;2.42e-24)|Colorectal(126;5.5e-08)|COAD - Colon adenocarcinoma(152;3.09e-06)|GBM - Glioblastoma multiforme(114;4.74e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000973)|KIRC - Kidney renal clear cell carcinoma(1967;0.00334)|STAD - Stomach adenocarcinoma(196;0.0127)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.187)		ACATTCTTGCGGTAAGAACTG	0.348																																						ENST00000418390.2																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	19						c.e2+1		transcription elongation factor B (SIII), polypeptide 3 (110kDa, elongin A)							79	80	80					1																	24075567		2203	4299	6502	SO:0001630	splice_region_variant	6924				positive regulation of viral transcription|regulation of transcription from RNA polymerase II promoter|transcription elongation from RNA polymerase II promoter|viral reproduction	integral to membrane	DNA binding	g.chr1:24075567G>A	L47345	CCDS239.2	1p36.1	2010-06-22	2002-08-29		ENSG00000011007	ENSG00000011007			11620	protein-coding gene	gene with protein product		600786	"transcription elongation factor B (SIII), polypeptide 3 (110kD, elongin A)"			8586449, 7660129	Standard	NM_003198		Approved	SIII, TCEB3A	uc001bho.3	Q14241	OTTHUMG00000002957	ENST00000418390.2:c.210+1G>A	1.37:g.24075567G>A						TCEB3_ENST00000487554.1_3'UTR	p.A70_splice	NM_003198.2	NP_003189.2	Q14241	ELOA1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;2.42e-24)|Colorectal(126;5.5e-08)|COAD - Colon adenocarcinoma(152;3.09e-06)|GBM - Glioblastoma multiforme(114;4.74e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000973)|KIRC - Kidney renal clear cell carcinoma(1967;0.00334)|STAD - Stomach adenocarcinoma(196;0.0127)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.187)	2	481	+		Colorectal(325;3.46e-05)|Lung NSC(340;0.000112)|all_lung(284;0.00016)|Renal(390;0.000219)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)	70			TFIIS N-terminal.		B2R7Q8|Q8IXH1	Splice_Site	SNP	ENST00000418390.2	37	c.210_splice	CCDS239.2																																																																																				0.348	TCEB3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000008230.2	NM_003198	Silent	12	34	0	0	0	1	0	12	34					A	24075567	G	A	24075567	5	1	285	1	0	0	0	0	0	0	1	0	15678	1130	39	2	216	2	TCEB3	1	24075567	Splice_Site	SNP	G	TCGA-J9-A52B-01A-11D-A26M-08	15684865	24075567	225175054	2	13094											
SESN2	83667	broad.mit.edu	37	chr1	28599228	28599228	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgagggggatgcagatggcaGccctgccccccaggcaccta	8	5	14	14	0	0	2	0	1	0	1	0	3	0	3	5	4	3	3	5	4	1	1			TCGA-J9-A52B-01A-11D-A26M-08	TCGA-J9-A52B-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97303517-3824-482e-b245-cd3da03be6f1	6660b8f2-95ae-4689-a6e0-ed2edba45ccf	g.chr1:28599228G>T	ENST00000253063.3	+	5	995	c.674G>T	c.(673-675)aGc>aTc	p.S225I		NM_031459.4	NP_113647.1	P58004	SESN2_HUMAN	sestrin 2	225					autophagy (GO:0006914)|fatty acid beta-oxidation (GO:0006635)|glucose import (GO:0046323)|mitochondrial DNA metabolic process (GO:0032042)|protein kinase B signaling (GO:0043491)|regulation of cAMP-dependent protein kinase activity (GO:2000479)|regulation of gluconeogenesis involved in cellular glucose homeostasis (GO:0090526)|regulation of response to reactive oxygen species (GO:1901031)|response to glucose (GO:0009749)|response to insulin (GO:0032868)|triglyceride homeostasis (GO:0070328)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				cervix(1)|endometrium(3)|large_intestine(5)|lung(7)|ovary(2)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	27		Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;4.76e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)		OV - Ovarian serous cystadenocarcinoma(117;2.98e-22)|Colorectal(126;3.04e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00279)|STAD - Stomach adenocarcinoma(196;0.00303)|BRCA - Breast invasive adenocarcinoma(304;0.00595)|READ - Rectum adenocarcinoma(331;0.0649)		GCAGATGGCAGCCCTGCCCCC	0.632																																						ENST00000253063.3																			0				cervix(1)|endometrium(3)|large_intestine(5)|lung(7)|ovary(2)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	27						c.(673-675)aGc>aTc		sestrin 2							79	70	73					1																	28599228		2203	4300	6503	SO:0001583	missense	83667				cell cycle arrest	cytoplasm|nucleus		g.chr1:28599228G>T	AY123223	CCDS321.1	1p35.2	2008-02-05			ENSG00000130766	ENSG00000130766			20746	protein-coding gene	gene with protein product		607767				12607115, 12203114	Standard	NM_031459		Approved	SES2, DKFZp761M0212, HI95, SEST2	uc001bps.3	P58004	OTTHUMG00000003532	ENST00000253063.3:c.674G>T	1.37:g.28599228G>T	ENSP00000253063:p.Ser225Ile						p.S225I	NM_031459.4	NP_113647.1	P58004	SESN2_HUMAN		OV - Ovarian serous cystadenocarcinoma(117;2.98e-22)|Colorectal(126;3.04e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00279)|STAD - Stomach adenocarcinoma(196;0.00303)|BRCA - Breast invasive adenocarcinoma(304;0.00595)|READ - Rectum adenocarcinoma(331;0.0649)	5	995	+		Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;4.76e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)	225					Q5T7D0|Q96SI5	Missense_Mutation	SNP	ENST00000253063.3	37	c.674G>T	CCDS321.1	.	.	.	.	.	.	.	.	.	.	G	14.87	2.663813	0.47572	.	.	ENSG00000130766	ENST00000253063	T	0.25749	1.78	5.46	3.32	0.38043	.	0.207877	0.52532	D	0.000070	T	0.17874	0.0429	L	0.35854	1.095	0.35927	D	0.832271	B	0.29862	0.259	B	0.32022	0.139	T	0.15009	-1.0452	10	0.54805	T	0.06	-31.5422	4.7948	0.13267	0.088:0.232:0.5456:0.1345	.	225	P58004	SESN2_HUMAN	I	225	ENSP00000253063:S225I	ENSP00000253063:S225I	S	+	2	0	SESN2	28471815	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	3.862000	0.56009	2.568000	0.86640	0.591000	0.81541	AGC		0.632	SESN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009840.1			6	90	1	0	2.7689e-08	1	3.09465e-08	6	90					T	28599228	G	T	28599228	3	4	285	1	0	0	0	0	1	0	0	0	14125	971	34	5	692	5	SESN2	1	28599228	Missense_Mutation	SNP	G	TCGA-J9-A52B-01A-11D-A26M-08	4523661	28599228	220651393	3	13095											
LRRIQ3	127255	broad.mit.edu	37	chr1	74649266	74649266	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctttaaatgaaggccattgaActtcacaaaaacaaaatctt	18	11	4	8	0	2	2	1	2	1	0	2	2	2	2	1	1	2	0	1	1	8	5			TCGA-J9-A52B-01A-11D-A26M-08	TCGA-J9-A52B-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97303517-3824-482e-b245-cd3da03be6f1	6660b8f2-95ae-4689-a6e0-ed2edba45ccf	g.chr1:74649266A>C	ENST00000395089.1	-	1	102	c.103T>G	c.(103-105)Ttc>Gtc	p.F35V	LRRIQ3_ENST00000370909.2_Missense_Mutation_p.F35V|LRRIQ3_ENST00000354431.4_Missense_Mutation_p.F35V|LRRIQ3_ENST00000370911.3_Missense_Mutation_p.F35V			A6PVS8	LRIQ3_HUMAN	leucine-rich repeats and IQ motif containing 3	35			F -> C (in dbSNP:rs2274904).							NS(2)|breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(13)|liver(1)|lung(27)|ovary(3)|prostate(1)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(5)	73						aggccattgaacttcacaaaa	0.338																																						ENST00000354431.4																			0				NS(2)|breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(13)|liver(1)|lung(27)|ovary(3)|prostate(1)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(5)	73						c.(103-105)Ttc>Gtc		leucine-rich repeats and IQ motif containing 3							58	61	60					1																	74649266		2201	4296	6497	SO:0001583	missense	127255							g.chr1:74649266A>C	BX647210	CCDS41350.1	1p31.1	2008-06-12	2008-06-12	2008-06-12	ENSG00000162620	ENSG00000162620			28318	protein-coding gene	gene with protein product			"leucine rich repeat containing 44"	LRRC44		12477932	Standard	NM_001105659		Approved	MGC22773	uc001dfy.4	A6PVS8	OTTHUMG00000009508	ENST00000395089.1:c.103T>G	1.37:g.74649266A>C	ENSP00000378524:p.Phe35Val					LRRIQ3_ENST00000370911.3_Missense_Mutation_p.F35V|LRRIQ3_ENST00000370909.2_Missense_Mutation_p.F35V|LRRIQ3_ENST00000395089.1_Missense_Mutation_p.F35V	p.F35V	NM_001105659.1	NP_001099129.1	A6PVS8	LRIQ3_HUMAN			2	294	-			35		F -> C (in dbSNP:rs2274904).			A6PVS9|Q6P5P7|Q6ZMV4|Q8WUE0	Missense_Mutation	SNP	ENST00000395089.1	37	c.103T>G	CCDS41350.1	.	.	.	.	.	.	.	.	.	.	A	13.48	2.251128	0.39797	.	.	ENSG00000162620	ENST00000395089;ENST00000354431;ENST00000370909;ENST00000388972;ENST00000370911	T;T;T;T	0.29397	1.94;1.94;1.57;1.94	5.06	5.06	0.68205	.	0.265869	0.26951	N	0.021675	T	0.08044	0.0201	N	0.24115	0.695	0.22851	N	0.998658	P	0.35328	0.495	B	0.33750	0.169	T	0.06935	-1.0799	10	0.52906	T	0.07	.	5.602	0.17359	0.7368:0.1747:0.0885:0.0	.	35	A6PVS8	LRIQ3_HUMAN	V	35	ENSP00000378524:F35V;ENSP00000346414:F35V;ENSP00000359946:F35V;ENSP00000359948:F35V	ENSP00000346414:F35V	F	-	1	0	LRRIQ3	74421854	0.998000	0.40836	1.000000	0.80357	0.976000	0.68499	2.233000	0.43027	2.015000	0.59207	0.533000	0.62120	TTC		0.338	LRRIQ3-008	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316539.1	NM_145258		5	12	0	0	0	1	0	5	12					C	74649266	A	C	74649266	3	2	285	1	0	0	0	0	1	0	0	0	9030	43	2	5	1799	5	LRRIQ3	1	74649266	Missense_Mutation	SNP	A	TCGA-J9-A52B-01A-11D-A26M-08	46050038	74649266	174601355	4	13096											
OBSCN	84033	broad.mit.edu	37	chr1	228433234	228433234	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gacagaggtgacgtggtacaAggacgggaagaagctgagct	13	5	17	6	2	0	4	0	2	0	2	0	7	0	6	0	4	3	3	0	4	4	1			TCGA-J9-A52B-01A-11D-A26M-08	TCGA-J9-A52B-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97303517-3824-482e-b245-cd3da03be6f1	6660b8f2-95ae-4689-a6e0-ed2edba45ccf	g.chr1:228433234A>G	ENST00000422127.1	+	12	3646	c.3602A>G	c.(3601-3603)aAg>aGg	p.K1201R	OBSCN_ENST00000284548.11_Missense_Mutation_p.K1201R|OBSCN_ENST00000570156.2_Missense_Mutation_p.K1293R|OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000366709.4_5'UTR	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	1201	Ig-like 12.				apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				ACGTGGTACAAGGACGGGAAG	0.597																																						ENST00000570156.2																			0				NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223						c.(3877-3879)aAg>aGg		obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF							95	93	94					1																	228433234		2084	4208	6292	SO:0001583	missense	84033				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	g.chr1:228433234A>G	AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"Rho guanine nucleotide exchange factors", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.3602A>G	1.37:g.228433234A>G	ENSP00000409493:p.Lys1201Arg					OBSCN_ENST00000284548.11_Missense_Mutation_p.K1201R|OBSCN_ENST00000422127.1_Missense_Mutation_p.K1201R|OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000366709.4_5'UTR	p.K1293R	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN			13	3952	+		Prostate(94;0.0405)	273			Ig-like 13.		Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Missense_Mutation	SNP	ENST00000422127.1	37	c.3878A>G	CCDS58065.1	.	.	.	.	.	.	.	.	.	.	.	7.514	0.655335	0.14580	.	.	ENSG00000154358	ENST00000284548;ENST00000422127	T;T	0.06608	3.28;3.28	4.63	4.63	0.57726	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.09024	0.0223	L	0.56280	1.765	0.80722	D	1	B;P	0.35821	0.4;0.523	B;B	0.36504	0.113;0.226	T	0.19910	-1.0291	10	0.32370	T	0.25	.	14.0977	0.65034	1.0:0.0:0.0:0.0	.	1201;1201	Q5VST9;Q5VST9-3	OBSCN_HUMAN;.	R	1201	ENSP00000284548:K1201R;ENSP00000409493:K1201R	ENSP00000284548:K1201R	K	+	2	0	OBSCN	226499857	1.000000	0.71417	0.994000	0.49952	0.045000	0.14185	6.714000	0.74692	1.741000	0.51731	0.254000	0.18369	AAG		0.597	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843		36	99	0	0	0	1	0	36	99					G	228433234	A	G	228433234	3	3	285	1	0	0	0	0	1	0	0	0	10812	72	3	4	3644	4	OBSCN	1	228433234	Missense_Mutation	SNP	A	TCGA-J9-A52B-01A-11D-A26M-08	153783968	228433234	20817387	5	13097											
ASTL	431705	broad.mit.edu	37	chr2	96795571	96795571	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catgccactcacctctcccaCggggcctggggccacttggg	5	7	12	17	1	2	0	1	0	1	0	3	0	2	0	5	5	1	0	5	5	0	1	rs145550482		TCGA-J9-A52B-01A-11D-A26M-08	TCGA-J9-A52B-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97303517-3824-482e-b245-cd3da03be6f1	6660b8f2-95ae-4689-a6e0-ed2edba45ccf	g.chr2:96795571C>T	ENST00000342380.2	-	8	865	c.866G>A	c.(865-867)cGt>cAt	p.R289H		NM_001002036.3	NP_001002036.3			astacin-like metallo-endopeptidase (M12 family)											endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|prostate(1)|skin(2)	30						ACCTCTCCCACGGGGCCTGGG	0.622																																						ENST00000342380.2																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|prostate(1)|skin(2)	30						c.(865-867)cGt>cAt		astacin-like metallo-endopeptidase (M12 family)							35	41	39					2																	96795571		2203	4300	6503	SO:0001583	missense	431705				proteolysis		metalloendopeptidase activity|zinc ion binding	g.chr2:96795571C>T	AJ537600	CCDS33249.1	2q11.1	2014-07-23	2006-10-10		ENSG00000188886	ENSG00000188886	3.4.24.21		31704	protein-coding gene	gene with protein product	"sperm acrosomal SLLP1 binding"	608860	"astacin-like metalloendopeptidase (M12 family)"			15087446	Standard	NM_001002036		Approved	ovastacin, SAS1B	uc010yui.2	Q6HA08	OTTHUMG00000155212	ENST00000342380.2:c.866G>A	2.37:g.96795571C>T	ENSP00000343674:p.Arg289His						p.R289H	NM_001002036.3	NP_001002036.3	Q6HA08	ASTL_HUMAN			8	865	-			289						Missense_Mutation	SNP	ENST00000342380.2	37	c.866G>A	CCDS33249.1	.	.	.	.	.	.	.	.	.	.	C	0.019	-1.463849	0.01062	.	.	ENSG00000188886	ENST00000342380	T	0.64438	-0.1	3.62	-7.23	0.01480	.	2.205680	0.01915	N	0.040102	T	0.27098	0.0664	N	0.02916	-0.46	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.35674	-0.9779	10	0.06757	T	0.87	7.4048	2.766	0.05320	0.1208:0.1831:0.1407:0.5553	.	289	Q6HA08	ASTL_HUMAN	H	289	ENSP00000343674:R289H	ENSP00000343674:R289H	R	-	2	0	ASTL	96159298	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-1.163000	0.03138	-2.009000	0.00954	-1.058000	0.02302	CGT		0.622	ASTL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338801.1			22	93	0	0	0	1	0	22	93					T	96795571	C	T	96795571	3	4	285	1	0	0	0	0	1	0	0	0	1063	536	19	1	436	1	ASTL	2	96795571	Missense_Mutation	SNP	C	TCGA-J9-A52B-01A-11D-A26M-08		96795571	146403802	6	13098											
DRD3	1814	broad.mit.edu	37	chr3	113850057	113850057	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gcttcaaagatgtcgataatCtgccattgctgagttttcga	10	14	9	8	2	2	2	1	1	1	1	4	4	2	2	1	0	2	3	1	0	2	5			TCGA-J9-A52B-01A-11D-A26M-08	TCGA-J9-A52B-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97303517-3824-482e-b245-cd3da03be6f1	6660b8f2-95ae-4689-a6e0-ed2edba45ccf	g.chr3:113850057C>G	ENST00000460779.1	-	7	1203	c.914G>C	c.(913-915)aGa>aCa	p.R305T	DRD3_ENST00000383673.2_Missense_Mutation_p.R305T|DRD3_ENST00000467632.1_Missense_Mutation_p.R305T|DRD3_ENST00000295881.7_Intron	NM_001282563.1	NP_001269492.1	P35462	DRD3_HUMAN	dopamine receptor D3	305					acid secretion (GO:0046717)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|arachidonic acid secretion (GO:0050482)|behavioral response to cocaine (GO:0048148)|cellular calcium ion homeostasis (GO:0006874)|circadian regulation of gene expression (GO:0032922)|dopamine metabolic process (GO:0042417)|G-protein coupled receptor internalization (GO:0002031)|G-protein coupled receptor signaling pathway (GO:0007186)|gastric emptying (GO:0035483)|learning (GO:0007612)|learning or memory (GO:0007611)|locomotory behavior (GO:0007626)|musculoskeletal movement, spinal reflex action (GO:0050883)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of blood pressure (GO:0045776)|negative regulation of dopamine receptor signaling pathway (GO:0060160)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein secretion (GO:0050709)|negative regulation of sodium:proton antiporter activity (GO:0032416)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokinesis (GO:0032467)|positive regulation of dopamine receptor signaling pathway (GO:0060161)|positive regulation of mitosis (GO:0045840)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prepulse inhibition (GO:0060134)|regulation of blood volume by renin-angiotensin (GO:0002016)|regulation of cAMP metabolic process (GO:0030814)|regulation of circadian sleep/wake cycle, sleep (GO:0045187)|regulation of dopamine secretion (GO:0014059)|regulation of dopamine uptake involved in synaptic transmission (GO:0051584)|regulation of lipid metabolic process (GO:0019216)|regulation of locomotion involved in locomotory behavior (GO:0090325)|regulation of multicellular organism growth (GO:0040014)|response to amphetamine (GO:0001975)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|response to histamine (GO:0034776)|response to morphine (GO:0043278)|social behavior (GO:0035176)|synaptic transmission, dopaminergic (GO:0001963)|visual learning (GO:0008542)	apical part of cell (GO:0045177)|cell projection (GO:0042995)|endocytic vesicle (GO:0030139)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	dopamine binding (GO:0035240)|dopamine neurotransmitter receptor activity, coupled via Gi/Go (GO:0001591)|drug binding (GO:0008144)			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)	36					Amisulpride(DB06288)|Amoxapine(DB00543)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Clozapine(DB00363)|Domperidone(DB01184)|Dopamine(DB00988)|Haloperidol(DB00502)|Iloperidone(DB04946)|L-DOPA(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Pimozide(DB01100)|Pramipexole(DB00413)|Quetiapine(DB01224)|Remoxipride(DB00409)|Risperidone(DB00734)|Ropinirole(DB00268)|Rotigotine(DB05271)|Sulpiride(DB00391)|Yohimbine(DB01392)|Ziprasidone(DB00246)	TGTCGATAATCTGCCATTGCT	0.517																																						ENST00000383673.2																			0				central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)	36						c.(913-915)aGa>aCa		dopamine receptor D3	Apomorphine(DB00714)|Chlorprothixene(DB01239)|Cocaine(DB00907)|Methotrimeprazine(DB01403)|Olanzapine(DB00334)|Pramipexole(DB00413)|Ropinirole(DB00268)|Ziprasidone(DB00246)						161	164	163					3																	113850057		2203	4300	6503	SO:0001583	missense	1814				activation of adenylate cyclase activity by dopamine receptor signaling pathway|arachidonic acid secretion|behavioral response to cocaine|cellular calcium ion homeostasis|circadian regulation of gene expression|G-protein coupled receptor internalization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|locomotory behavior|musculoskeletal movement, spinal reflex action|negative regulation of blood pressure|negative regulation of oligodendrocyte differentiation|negative regulation of protein kinase B signaling cascade|negative regulation of protein secretion|positive regulation of dopamine receptor signaling pathway|positive regulation of mitosis|prepulse inhibition|regulation of dopamine secretion|response to drug|response to histamine|response to morphine|social behavior|visual learning	integral to plasma membrane	dopamine D3 receptor activity|drug binding	g.chr3:113850057C>G		CCDS2978.1, CCDS33829.1	3q13.3	2012-08-08			ENSG00000151577	ENSG00000151577		"GPCR / Class A : Dopamine receptors"	3024	protein-coding gene	gene with protein product		126451				1916765	Standard	XM_005247171		Approved		uc003ebc.1	P35462	OTTHUMG00000159334	ENST00000460779.1:c.914G>C	3.37:g.113850057C>G	ENSP00000419402:p.Arg305Thr					DRD3_ENST00000460779.1_Missense_Mutation_p.R305T|DRD3_ENST00000295881.7_Intron|DRD3_ENST00000467632.1_Missense_Mutation_p.R305T	p.R305T	NM_000796.3	NP_000787.2	P35462	DRD3_HUMAN			6	1344	-			305					A1A4V5|Q4VBM8	Missense_Mutation	SNP	ENST00000460779.1	37	c.914G>C	CCDS2978.1	.	.	.	.	.	.	.	.	.	.	C	14.55	2.569006	0.45798	.	.	ENSG00000151577	ENST00000460779;ENST00000467632;ENST00000383673	T;T;T	0.74002	-0.8;-0.8;-0.8	5.52	5.52	0.82312	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.64918	0.2642	L	0.45228	1.405	0.41741	D	0.989618	B;B;B	0.25609	0.062;0.062;0.13	B;B;B	0.29267	0.1;0.1;0.1	T	0.62105	-0.6924	10	0.40728	T	0.16	.	7.0925	0.25291	0.0:0.8041:0.0:0.1959	.	305;305;305	A1A4V4;A8K8E4;P35462	.;.;DRD3_HUMAN	T	305	ENSP00000419402:R305T;ENSP00000420662:R305T;ENSP00000373169:R305T	ENSP00000373169:R305T	R	-	2	0	DRD3	115332747	1.000000	0.71417	1.000000	0.80357	0.911000	0.54048	1.853000	0.39358	2.866000	0.98385	0.650000	0.86243	AGA		0.517	DRD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354699.1	NM_000796.3		18	169	0	0	0	1	0	18	169					G	113850057	C	G	113850057	3	3	285	1	0	0	0	0	1	0	0	0	4758	913	32	5	296	5	DRD3	3	113850057	Missense_Mutation	SNP	C	TCGA-J9-A52B-01A-11D-A26M-08		113850057	84172373	7	13099											
MTTP	4547	broad.mit.edu	37	chr4	100543853	100543853	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggcaatttgagaaaaagtacGaaaggctgtccacaggcaga	16	6	12	7	1	0	2	0	1	0	2	1	4	1	2	1	3	1	4	1	3	5	2			TCGA-J9-A52B-01A-11D-A26M-08	TCGA-J9-A52B-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97303517-3824-482e-b245-cd3da03be6f1	6660b8f2-95ae-4689-a6e0-ed2edba45ccf	g.chr4:100543853G>A	ENST00000265517.5	+	18	2736	c.2533G>A	c.(2533-2535)Gaa>Aaa	p.E845K	MTTP_ENST00000457717.1_Missense_Mutation_p.E845K|MTTP_ENST00000511045.1_Missense_Mutation_p.E872K|RP11-766F14.1_ENST00000508578.1_RNA			P55157	MTP_HUMAN	microsomal triglyceride transfer protein	845					cholesterol homeostasis (GO:0042632)|lipid metabolic process (GO:0006629)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|protein lipidation (GO:0006497)|response to calcium ion (GO:0051592)|small molecule metabolic process (GO:0044281)|triglyceride metabolic process (GO:0006641)	basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|endoplasmic reticulum lumen (GO:0005788)|Golgi apparatus (GO:0005794)|membrane-bounded vesicle (GO:0031988)|microvillus membrane (GO:0031528)|receptor complex (GO:0043235)|rough endoplasmic reticulum (GO:0005791)	lipid binding (GO:0008289)|lipid transporter activity (GO:0005319)			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(14)|lung(19)|ovary(4)|prostate(5)|skin(1)|urinary_tract(1)	57				OV - Ovarian serous cystadenocarcinoma(123;6.04e-09)	Hesperetin(DB01094)|Lomitapide(DB08827)	GAAAAAGTACGAAAGGCTGTC	0.418																																						ENST00000457717.1																			0				breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(14)|lung(19)|ovary(4)|prostate(5)|skin(1)|urinary_tract(1)	57						c.(2533-2535)Gaa>Aaa		microsomal triglyceride transfer protein	Hesperetin(DB01094)						120	119	119					4																	100543853		2203	4300	6503	SO:0001583	missense	4547				lipid metabolic process|lipoprotein metabolic process	endoplasmic reticulum lumen	lipid binding|lipid transporter activity	g.chr4:100543853G>A		CCDS3651.1, CCDS75169.1	4q24	2008-02-05	2005-11-04	2005-11-04	ENSG00000138823	ENSG00000138823			7467	protein-coding gene	gene with protein product		157147	"microsomal triglyceride transfer protein (large polypeptide, 88kD)", "microsomal triglyceride transfer protein (large polypeptide, 88kDa)"	MTP		8111381	Standard	XM_005263025		Approved	ABL	uc003hvc.4	P55157	OTTHUMG00000131023	ENST00000265517.5:c.2533G>A	4.37:g.100543853G>A	ENSP00000265517:p.Glu845Lys					RP11-766F14.1_ENST00000508578.1_RNA|MTTP_ENST00000265517.5_Missense_Mutation_p.E845K|MTTP_ENST00000511045.1_Missense_Mutation_p.E872K	p.E845K	NM_000253.2	NP_000244.2	P55157	MTP_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;6.04e-09)	19	2789	+			845					A8K428|Q08AM4|Q6P5T3	Missense_Mutation	SNP	ENST00000265517.5	37	c.2533G>A	CCDS3651.1	.	.	.	.	.	.	.	.	.	.	G	29.5	5.007540	0.93287	.	.	ENSG00000138823	ENST00000511045;ENST00000457717;ENST00000265517	T;T;T	0.65916	-0.18;-0.16;-0.16	6.16	6.16	0.99307	.	0.000000	0.85682	D	0.000000	T	0.80221	0.4583	M	0.71581	2.175	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.80764	0.938;0.994	T	0.79890	-0.1612	10	0.87932	D	0	-28.6928	20.4702	0.99162	0.0:0.0:1.0:0.0	.	872;845	E9PBP6;P55157	.;MTP_HUMAN	K	872;845;845	ENSP00000427679:E872K;ENSP00000400821:E845K;ENSP00000265517:E845K	ENSP00000265517:E845K	E	+	1	0	MTTP	100762876	1.000000	0.71417	0.995000	0.50966	0.526000	0.34562	9.026000	0.93700	2.937000	0.99478	0.650000	0.86243	GAA		0.418	MTTP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253662.3			36	48	0	0	0	1	0	36	48					A	100543853	G	A	100543853	3	1	285	1	0	0	0	0	1	0	0	0	9964	1059	37	2	2603	2	MTTP	4	100543853	Missense_Mutation	SNP	G	TCGA-J9-A52B-01A-11D-A26M-08		100543853	90610423	8	13100											
CENPE	1062	broad.mit.edu	37	chr4	104065638	104065638	+	Silent	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgagtcaaccttatattctcCgtttctatgttttccaggtt	7	19	6	9	1	3	1	1	1	2	0	5	1	4	1	3	1	1	3	3	1	4	8	rs142875576		TCGA-J9-A52B-01A-11D-A26M-08	TCGA-J9-A52B-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97303517-3824-482e-b245-cd3da03be6f1	6660b8f2-95ae-4689-a6e0-ed2edba45ccf	g.chr4:104065638C>G	ENST00000265148.3	-	33	5084	c.4995G>C	c.(4993-4995)acG>acC	p.T1665T	CENPE_ENST00000380026.3_Silent_p.T1640T	NM_001813.2	NP_001804.2	Q02224	CENPE_HUMAN	centromere protein E, 312kDa	1665					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|kinetochore assembly (GO:0051382)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic chromosome movement towards spindle pole (GO:0007079)|mitotic metaphase plate congression (GO:0007080)|multicellular organismal development (GO:0007275)|positive regulation of protein kinase activity (GO:0045860)|regulation of mitotic metaphase/anaphase transition (GO:0030071)	chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|condensed chromosome outer kinetochore (GO:0000940)|condensed chromosome, centromeric region (GO:0000779)|condensed nuclear chromosome kinetochore (GO:0000778)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|midbody (GO:0030496)|mitotic spindle midzone (GO:1990023)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|kinetochore binding (GO:0043515)|microtubule motor activity (GO:0003777)			NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3)	101				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)		TTATATTCTCCGTTTCTATGT	0.388																																						ENST00000265148.3																			0				NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3)	101						c.(4993-4995)acG>acC		centromere protein E, 312kDa							169	162	164					4																	104065638		2202	4300	6502	SO:0001819	synonymous_variant	1062				blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity	condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle	ATP binding|kinetochore binding|microtubule motor activity	g.chr4:104065638C>G	Z15005	CCDS34042.1, CCDS68768.1	4q24-q25	2013-11-05	2002-08-29			ENSG00000138778		"Kinesins", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	1856	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 61"	117143	"centromere protein E (312kD)"			7851898	Standard	NM_001286734		Approved	KIF10, PPP1R61	uc003hxb.1	Q02224		ENST00000265148.3:c.4995G>C	4.37:g.104065638C>G						CENPE_ENST00000380026.3_Silent_p.T1640T	p.T1665T	NM_001813.2	NP_001804.2	Q02224	CENPE_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)	33	5084	-			1665					A6NKY9|A8K2U7|Q4LE75	Silent	SNP	ENST00000265148.3	37	c.4995G>C	CCDS34042.1																																																																																				0.388	CENPE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				11	39	0	0	0	1	0	11	39					G	104065638	C	G	104065638	2	3	285	1	0	0	0	0	0	0	0	1	3230	639	23	5		5	CENPE	4	104065638	Silent	SNP	C	TCGA-J9-A52B-01A-11D-A26M-08	3521785	104065638	87088638	9	13101											
ANKRD37	353322	broad.mit.edu	37	chr4	186318457	186318458	+	Splice_Site	INS	-	-	T																															cgctgacctcaaccagcaggINStaactaggtaactgttgctg																										TCGA-J9-A52B-01A-11D-A26M-08	TCGA-J9-A52B-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97303517-3824-482e-b245-cd3da03be6f1	6660b8f2-95ae-4689-a6e0-ed2edba45ccf	g.chr4:186318457_186318458insT	ENST00000335174.4	+	2	620		c.e2+1		LRP2BP_ENST00000505916.1_5'Flank|ANKRD37_ENST00000507479.1_Splice_Site	NM_181726.2	NP_859077.1	Q7Z713	ANR37_HUMAN	ankyrin repeat domain 37							cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|large_intestine(1)|lung(1)	3		all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;0.00109)|Colorectal(36;0.0215)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)		all cancers(43;1.27e-25)|Epithelial(43;1.02e-22)|OV - Ovarian serous cystadenocarcinoma(60;1.14e-11)|BRCA - Breast invasive adenocarcinoma(30;7.72e-05)|GBM - Glioblastoma multiforme(59;0.000118)|STAD - Stomach adenocarcinoma(60;0.000756)|LUSC - Lung squamous cell carcinoma(40;0.00902)|COAD - Colon adenocarcinoma(29;0.00939)|READ - Rectum adenocarcinoma(43;0.155)		CAACCAGCAGGTAACTAGGTAA	0.535																																						ENST00000335174.4																			0				NS(1)|large_intestine(1)|lung(1)	3						c.e2+1		ankyrin repeat domain 37																																				SO:0001630	splice_region_variant	353322					cytoplasm|nucleus		g.chr4:186318457_186318458insT	AY296056	CCDS3841.1	4q35.1	2013-01-11						"Ankyrin repeat domain containing"	29593	protein-coding gene	gene with protein product							Standard	NM_181726		Approved	Lrp2bp	uc003ixm.3	Q7Z713		ENST00000335174.4:c.180+1->T	4.37:g.186318458_186318458dupT						ANKRD37_ENST00000507479.1_Splice_Site		NM_181726.2	NP_859077.1	Q7Z713	ANR37_HUMAN		all cancers(43;1.27e-25)|Epithelial(43;1.02e-22)|OV - Ovarian serous cystadenocarcinoma(60;1.14e-11)|BRCA - Breast invasive adenocarcinoma(30;7.72e-05)|GBM - Glioblastoma multiforme(59;0.000118)|STAD - Stomach adenocarcinoma(60;0.000756)|LUSC - Lung squamous cell carcinoma(40;0.00902)|COAD - Colon adenocarcinoma(29;0.00939)|READ - Rectum adenocarcinoma(43;0.155)	2	620	+		all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;0.00109)|Colorectal(36;0.0215)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)							Splice_Site	INS	ENST00000335174.4	37		CCDS3841.1																																																																																				0.535	ANKRD37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360673.1	NM_181726	Intron	14	44						14	44	---	---	---	---	T	186318458	-	T	186318457	8	5	285	1	0	1	1	0	0	0	1	0	667	1275	44	0	187	0	ANKRD37	4	186318457	Splice_Site	INS	-	TCGA-J9-A52B-01A-11D-A26M-08	82252819	186318457	4835819	10	13102											
PPAP2A	8611	broad.mit.edu	37	chr5	54771251	54771251	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttggaagggggtatgccttGaagtaagaattgcaaaaggc	13	9	15	4	0	0	2	0	1	0	1	0	3	0	3	1	4	2	4	1	4	7	5			TCGA-J9-A52B-01A-11D-A26M-08	TCGA-J9-A52B-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97303517-3824-482e-b245-cd3da03be6f1	6660b8f2-95ae-4689-a6e0-ed2edba45ccf	g.chr5:54771251G>T	ENST00000307259.8	-	2	506	c.86C>A	c.(85-87)tCa>tAa	p.S29*	PPAP2A_ENST00000515132.1_Intron|PPAP2A_ENST00000264775.5_Intron	NM_003711.2	NP_003702.2	O14494	LPP1_HUMAN	phosphatidic acid phosphatase type 2A	29					androgen receptor signaling pathway (GO:0030521)|germ cell migration (GO:0008354)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|lipid metabolic process (GO:0006629)|negative regulation of cell proliferation (GO:0008285)|phospholipid dephosphorylation (GO:0046839)|protein dephosphorylation (GO:0006470)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of lipid metabolic process (GO:0019216)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	phosphatidate phosphatase activity (GO:0008195)			breast(2)|endometrium(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)	9		Lung NSC(810;4.08e-05)|Prostate(74;0.0181)|Breast(144;0.0544)				GGTATGCCTTGAAGTAAGAAT	0.348																																						ENST00000307259.8																			0				breast(2)|endometrium(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)	9						c.(85-87)tCa>tAa		phosphatidic acid phosphatase type 2A							106	98	101					5																	54771251		2203	4300	6503	SO:0001587	stop_gained	8611				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|androgen receptor signaling pathway|germ cell migration|negative regulation of cell proliferation|phospholipid dephosphorylation|regulation of lipid metabolic process|sphingolipid metabolic process	integral to plasma membrane|membrane fraction	phosphatidate phosphatase activity|sphingosine-1-phosphate phosphatase activity	g.chr5:54771251G>T	AB000888	CCDS34159.1, CCDS34160.1	5q11	2009-05-27			ENSG00000067113	ENSG00000067113	3.1.3.4		9228	protein-coding gene	gene with protein product		607124				9305923	Standard	NM_003711		Approved	PAP-2a, LPP1	uc003jpz.4	O14494	OTTHUMG00000162240	ENST00000307259.8:c.86C>A	5.37:g.54771251G>T	ENSP00000302229:p.Ser29*					PPAP2A_ENST00000264775.5_Intron|PPAP2A_ENST00000515132.1_Intron	p.S29*	NM_003711.2	NP_003702.2	O14494	LPP1_HUMAN			2	506	-		Lung NSC(810;4.08e-05)|Prostate(74;0.0181)|Breast(144;0.0544)	29					B7ZKN8|G3XA95|O60457|O60463|Q17RZ4	Nonsense_Mutation	SNP	ENST00000307259.8	37	c.86C>A	CCDS34159.1	.	.	.	.	.	.	.	.	.	.	G	38	7.041174	0.98021	.	.	ENSG00000067113	ENST00000307259	.	.	.	5.6	4.74	0.60224	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.19147	T	0.46	.	10.7981	0.46472	0.1448:0.0:0.8552:0.0	.	.	.	.	X	29	.	ENSP00000302229:S29X	S	-	2	0	PPAP2A	54807008	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.571000	0.45990	1.370000	0.46153	0.557000	0.71058	TCA		0.348	PPAP2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368073.1			3	18	1	0	0.115264	1	0.115264	3	18					T	54771251	G	T	54771251	4	4	285	1	0	0	0	0	0	1	0	0	12290	1294	45	5	788	5	PPAP2A	5	54771251	Nonsense_Mutation	SNP	G	TCGA-J9-A52B-01A-11D-A26M-08		54771251	126144009	11	13103											
PCDHB3	56132	broad.mit.edu	37	chr5	140481893	140481893	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcgcgtgctggtgctggacGccaacgacaactcgcccttc	6	8	12	15	5	0	0	0	0	0	0	2	2	0	1	2	2	5	2	2	2	2	1	rs138158842		TCGA-J9-A52B-01A-11D-A26M-08	TCGA-J9-A52B-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97303517-3824-482e-b245-cd3da03be6f1	6660b8f2-95ae-4689-a6e0-ed2edba45ccf	g.chr5:140481893G>A	ENST00000231130.2	+	1	1660	c.1660G>A	c.(1660-1662)Gcc>Acc	p.A554T	AC005754.7_ENST00000607216.1_RNA	NM_018937.2	NP_061760.1	Q9Y5E6	PCDB3_HUMAN	protocadherin beta 3	554	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.A554T(1)		NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGTGCTGGACGCCAACGACAA	0.711																																						ENST00000231130.2																			1	Substitution - Missense(1)	p.A554T(1)	lung(1)	NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72						c.(1660-1662)Gcc>Acc				G	THR/ALA	0,4300		0,0,2150	17	19	18		1660	3.3	1	5	dbSNP_134	18	1,8433		0,1,4216	no	missense	PCDHB3	NM_018937.2	58	0,1,6366	AA,AG,GG		0.0119,0.0,0.0079	benign	554/797	140481893	1,12733	2150	4217	6367	SO:0001583	missense	0				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	g.chr5:140481893G>A	AF152496	CCDS4245.1	5q31	2010-01-26			ENSG00000113205	ENSG00000113205		"Cadherins / Protocadherins : Clustered"	8688	other	protocadherin		606329				10380929	Standard	NM_018937		Approved	PCDH-BETA3	uc003lio.3	Q9Y5E6	OTTHUMG00000129622	ENST00000231130.2:c.1660G>A	5.37:g.140481893G>A	ENSP00000231130:p.Ala554Thr						p.A554T	NM_018937.2	NP_061760.1	Q9Y5E6	PCDB3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1660	+			554			Cadherin 5.		B2R8P2	Missense_Mutation	SNP	ENST00000231130.2	37	c.1660G>A	CCDS4245.1	.	.	.	.	.	.	.	.	.	.	G	11.98	1.799517	0.31869	0.0	1.19E-4	ENSG00000113205	ENST00000231130	T	0.03181	4.02	4.24	3.35	0.38373	Cadherin (4);Cadherin conserved site (1);Cadherin-like (1);	.	.	.	.	T	0.02688	0.0081	N	0.13003	0.285	0.23076	N	0.998338	B	0.22080	0.064	B	0.15870	0.014	T	0.38628	-0.9652	9	0.42905	T	0.14	.	8.5429	0.33404	0.0896:0.1558:0.7546:0.0	.	554	Q9Y5E6	PCDB3_HUMAN	T	554	ENSP00000231130:A554T	ENSP00000231130:A554T	A	+	1	0	PCDHB3	140462077	0.000000	0.05858	0.992000	0.48379	0.775000	0.43874	0.196000	0.17176	2.078000	0.62432	0.556000	0.70494	GCC		0.711	PCDHB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251817.2	NM_018937		20	105	0	0	0	1	0	20	105					A	140481893	G	A	140481893	3	1	285	1	0	0	0	0	1	0	0	0	11543	1087	38	1	1662	1	PCDHB3	5	140481893	Missense_Mutation	SNP	G	TCGA-J9-A52B-01A-11D-A26M-08	85710642	140481893	40433367	12	13104											
NOTCH4	4855	broad.mit.edu	37	chr6	32180925	32180925	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctcacctgtctgcacagcTggggcggagctttccctcac	5	10	11	15	1	3	0	2	0	1	0	4	1	4	1	2	3	4	4	2	3	0	1	rs34199829		TCGA-J9-A52B-01A-11D-A26M-08	TCGA-J9-A52B-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97303517-3824-482e-b245-cd3da03be6f1	6660b8f2-95ae-4689-a6e0-ed2edba45ccf	g.chr6:32180925T>C	ENST00000375023.3	-	15	2563	c.2425A>G	c.(2425-2427)Agc>Ggc	p.S809G	NOTCH4_ENST00000465528.1_5'UTR	NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4	809	EGF-like 21. {ECO:0000255|PROSITE- ProRule:PRU00076}.		S -> I (in dbSNP:rs3132961).		cell differentiation (GO:0030154)|cell fate determination (GO:0001709)|embryo development (GO:0009790)|endothelial cell morphogenesis (GO:0001886)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|mammary gland development (GO:0030879)|morphogenesis of a branching structure (GO:0001763)|negative regulation of cell differentiation (GO:0045596)|negative regulation of endothelial cell differentiation (GO:0045602)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|patterning of blood vessels (GO:0001569)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|protein heterodimerization activity (GO:0046982)|receptor activity (GO:0004872)			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						TCTGCACAGCTGGGGCGGAGC	0.637																																						ENST00000375023.3																			0				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						c.(2425-2427)Agc>Ggc		notch 4							46	51	49					6																	32180925		2203	4300	6503	SO:0001583	missense	4855				cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity	g.chr6:32180925T>C		CCDS34420.1	6p21.3	2013-01-10	2010-06-24		ENSG00000204301	ENSG00000204301		"Ankyrin repeat domain containing"	7884	protein-coding gene	gene with protein product		164951	"Notch (Drosophila) homolog 4", "Notch homolog 4 (Drosophila)"	INT3		7835890	Standard	NM_004557		Approved		uc003obb.3	Q99466	OTTHUMG00000031044	ENST00000375023.3:c.2425A>G	6.37:g.32180925T>C	ENSP00000364163:p.Ser809Gly					NOTCH4_ENST00000465528.1_5'UTR	p.S809G	NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN			15	2563	-			809		S -> I (in dbSNP:rs3132961).	EGF-like 21.		B0V183|B0V1X5|O00306|Q5SSY7|Q99458|Q99940|Q9H3S8|Q9UII9|Q9UIJ0	Missense_Mutation	SNP	ENST00000375023.3	37	c.2425A>G	CCDS34420.1	.	.	.	.	.	.	.	.	.	.	T	14.84	2.656105	0.47467	.	.	ENSG00000204301	ENST00000375023	T	0.61274	0.12	4.16	4.16	0.48862	Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.128560	0.35585	N	0.003117	T	0.20047	0.0482	N	0.17312	0.475	0.80722	D	1	P	0.44006	0.824	B	0.30179	0.112	T	0.24905	-1.0147	10	0.72032	D	0.01	.	9.7966	0.40740	0.0:0.0:0.0:1.0	.	809	Q99466	NOTC4_HUMAN	G	809	ENSP00000364163:S809G	ENSP00000364163:S809G	S	-	1	0	NOTCH4	32288903	0.999000	0.42202	0.998000	0.56505	0.917000	0.54804	1.688000	0.37690	1.902000	0.55061	0.397000	0.26171	AGC		0.637	NOTCH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076045.2			4	64	0	0	0	1	0	4	64					C	32180925	T	C	32180925	3	2	285	1	0	0	0	0	1	0	0	0	10551	1580	55	4	3650	4	NOTCH4	6	32180925	Missense_Mutation	SNP	T	TCGA-J9-A52B-01A-11D-A26M-08		32180925	138934142	13	13105											
C6orf167	253714	broad.mit.edu	37	chr6	97681831	97681831	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aacaacagtgaagatacattCgtaattgttcttctagaatg	15	13	7	6	1	2	3	0	1	2	2	3	3	2	3	0	0	3	2	0	0	7	7			TCGA-J9-A52B-01A-11D-A26M-08	TCGA-J9-A52B-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97303517-3824-482e-b245-cd3da03be6f1	6660b8f2-95ae-4689-a6e0-ed2edba45ccf	g.chr6:97681831C>T	ENST00000275053.4	-	12	1473	c.1208G>A	c.(1207-1209)cGa>cAa	p.R403Q	MMS22L_ENST00000369251.2_Intron	NM_198468.2	NP_940870.2	Q6ZRQ5	MMS22_HUMAN	MMS22-like, DNA repair protein	403					double-strand break repair via homologous recombination (GO:0000724)|replication fork processing (GO:0031297)	nuclear replication fork (GO:0043596)				breast(1)|endometrium(9)|kidney(2)|large_intestine(12)|lung(20)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	50						AAGATACATTCGTAATTGTTC	0.343																																						ENST00000275053.4																			0				breast(1)|endometrium(9)|kidney(2)|large_intestine(12)|lung(20)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	50						c.(1207-1209)cGa>cAa		MMS22-like, DNA repair protein							94	97	96					6																	97681831		2203	4298	6501	SO:0001583	missense	253714				double-strand break repair via homologous recombination|replication fork processing	nuclear replication fork	protein binding	g.chr6:97681831C>T		CCDS5039.1	6q16.3	2010-11-11	2010-11-11	2010-11-11	ENSG00000146263	ENSG00000146263			21475	protein-coding gene	gene with protein product		615614	"chromosome 6 open reading frame 167"	C6orf167		21055983, 21055984	Standard	NM_198468		Approved	dJ39B17.2	uc003ppb.3	Q6ZRQ5	OTTHUMG00000015248	ENST00000275053.4:c.1208G>A	6.37:g.97681831C>T	ENSP00000275053:p.Arg403Gln					MMS22L_ENST00000369251.2_Intron	p.R403Q	NM_198468.2	NP_940870.2	Q6ZRQ5	MMS22_HUMAN			12	1473	-			403					D6R9Y8|D6RBQ4|E1P529|Q5THT2|Q68CQ6|Q68D32	Missense_Mutation	SNP	ENST00000275053.4	37	c.1208G>A	CCDS5039.1	.	.	.	.	.	.	.	.	.	.	C	36	5.682796	0.96774	.	.	ENSG00000146263	ENST00000275053;ENST00000510018	T;T	0.53640	0.61;0.61	5.39	5.39	0.77823	.	0.000000	0.85682	D	0.000000	T	0.65238	0.2672	M	0.75264	2.295	0.80722	D	1	D	0.89917	1.0	D	0.74023	0.982	T	0.67118	-0.5751	10	0.62326	D	0.03	-0.0085	19.5153	0.95160	0.0:1.0:0.0:0.0	.	403	Q6ZRQ5	MMS22_HUMAN	Q	403;291	ENSP00000275053:R403Q;ENSP00000427288:R291Q	ENSP00000275053:R403Q	R	-	2	0	MMS22L	97788552	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	6.695000	0.74593	2.686000	0.91538	0.655000	0.94253	CGA		0.343	MMS22L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041573.3	NM_198468		14	25	0	0	0	1	0	14	25					T	97681831	C	T	97681831	3	4	285	1	0	0	0	0	1	0	0	0	2342	884	31	2	2579	2	C6orf167	6	97681831	Missense_Mutation	SNP	C	TCGA-J9-A52B-01A-11D-A26M-08	65500906	97681831	73433236	14	13106											
SYNE1	23345	broad.mit.edu	37	chr6	152651002	152651002	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtgactcagcgcattcatgaTtctcaagctggactggacct	9	11	10	11	1	3	2	3	2	1	0	4	4	3	4	1	2	2	2	1	2	1	2			TCGA-J9-A52B-01A-11D-A26M-08	TCGA-J9-A52B-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97303517-3824-482e-b245-cd3da03be6f1	6660b8f2-95ae-4689-a6e0-ed2edba45ccf	g.chr6:152651002T>G	ENST00000367255.5	-	78	15419	c.14818A>C	c.(14818-14820)Atc>Ctc	p.I4940L	SYNE1_ENST00000265368.4_Missense_Mutation_p.I4940L|SYNE1_ENST00000423061.1_Missense_Mutation_p.I4869L|SYNE1_ENST00000448038.1_Missense_Mutation_p.I4869L|SYNE1_ENST00000341594.5_Missense_Mutation_p.I4687L	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	4940					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		GCATTCATGATTCTCAAGCTG	0.493										HNSCC(10;0.0054)																												ENST00000367255.5																			0				NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524						c.(14818-14820)Atc>Ctc		spectrin repeat containing, nuclear envelope 1							274	264	267					6																	152651002		2203	4300	6503	SO:0001583	missense	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152651002T>G	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"myocyte nuclear envelope protein 1", "nuclear envelope spectrin repeat-1"	608441	"chromosome 6 open reading frame 98"	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.14818A>C	6.37:g.152651002T>G	ENSP00000356224:p.Ile4940Leu	HNSCC(10;0.0054)				SYNE1_ENST00000265368.4_Missense_Mutation_p.I4940L|SYNE1_ENST00000423061.1_Missense_Mutation_p.I4869L|SYNE1_ENST00000448038.1_Missense_Mutation_p.I4869L|SYNE1_ENST00000341594.5_Missense_Mutation_p.I4687L	p.I4940L	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	78	15419	-		Ovarian(120;0.0955)	4940					E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	c.14818A>C	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	T	11.31	1.600520	0.28534	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594	T;T;T;T;T	0.49432	0.78;0.78;0.78;0.78;0.78	6.03	6.03	0.97812	.	0.086844	0.48286	D	0.000181	T	0.35653	0.0939	L	0.52573	1.65	0.80722	D	1	P;P;P;P	0.47677	0.899;0.651;0.651;0.763	P;B;B;B	0.48270	0.572;0.163;0.163;0.309	T	0.14783	-1.0460	10	0.23891	T	0.37	.	12.3722	0.55261	0.0:0.0669:0.0:0.9331	.	4940;4940;4940;4869	Q8NF91-7;Q8NF91;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.	L	4940;4869;4940;4869;4687	ENSP00000356224:I4940L;ENSP00000396024:I4869L;ENSP00000265368:I4940L;ENSP00000390975:I4869L;ENSP00000341887:I4687L	ENSP00000265368:I4940L	I	-	1	0	SYNE1	152692695	1.000000	0.71417	0.872000	0.34217	0.894000	0.52154	5.077000	0.64419	2.308000	0.77769	0.533000	0.62120	ATC		0.493	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		68	137	0	0	0	1	0	68	137					G	152651002	T	G	152651002	3	3	285	1	0	0	0	0	1	0	0	0	15442	1493	52	5	11924	5	SYNE1	6	152651002	Missense_Mutation	SNP	T	TCGA-J9-A52B-01A-11D-A26M-08	54969171	152651002	18464065	15	13107											
AGPAT4	56895	broad.mit.edu	37	chr6	161560578	161560578	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	aacagccagttcacgagggtCcagggccgccgggggggcac	8	3	17	13	3	1	0	1	0	0	0	2	1	2	0	4	5	2	2	4	5	1	1			TCGA-J9-A52B-01A-11D-A26M-08	TCGA-J9-A52B-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97303517-3824-482e-b245-cd3da03be6f1	6660b8f2-95ae-4689-a6e0-ed2edba45ccf	g.chr6:161560578C>G	ENST00000320285.4	-	8	1130	c.918G>C	c.(916-918)tgG>tgC	p.W306C	AGPAT4_ENST00000366911.5_3'UTR|AGPAT4_ENST00000457520.2_Missense_Mutation_p.W144C	NM_020133.2	NP_064518.1	Q9NRZ5	PLCD_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 4	306					CDP-diacylglycerol biosynthetic process (GO:0016024)|cellular lipid metabolic process (GO:0044255)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidic acid biosynthetic process (GO:0006654)|phospholipid biosynthetic process (GO:0008654)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	1-acylglycerol-3-phosphate O-acyltransferase activity (GO:0003841)			endometrium(1)|large_intestine(10)|lung(10)|ovary(2)|skin(2)	25		Breast(66;0.000289)|Ovarian(120;0.0266)|Prostate(117;0.0285)		OV - Ovarian serous cystadenocarcinoma(65;2.23e-17)|BRCA - Breast invasive adenocarcinoma(81;3.58e-05)		TCACGAGGGTCCAGGGCCGCC	0.627																																						ENST00000320285.4																			0				endometrium(1)|large_intestine(10)|lung(10)|ovary(2)|skin(2)	25						c.(916-918)tgG>tgC		1-acylglycerol-3-phosphate O-acyltransferase 4							64	74	71					6																	161560578		2203	4300	6503	SO:0001583	missense	56895				phospholipid biosynthetic process	integral to membrane	1-acylglycerol-3-phosphate O-acyltransferase activity|protein binding	g.chr6:161560578C>G	AF156776	CCDS5280.1	6q25.3	2013-02-05	2013-02-05		ENSG00000026652	ENSG00000026652	2.3.1.51	"1-acylglycerol-3-phosphate O-acyltransferases"	20885	protein-coding gene	gene with protein product	"lysophosphatidic acid acyltransferase, delta"	614795	"1-acylglycerol-3-phosphate O-acyltransferase 4 (lysophosphatidic acid acyltransferase, delta)"				Standard	XM_005267052		Approved	LPAAT-delta, dJ473J16.2	uc003qtr.1	Q9NRZ5	OTTHUMG00000015966	ENST00000320285.4:c.918G>C	6.37:g.161560578C>G	ENSP00000314036:p.Trp306Cys					AGPAT4_ENST00000457520.2_Missense_Mutation_p.W144C|AGPAT4_ENST00000366911.5_3'UTR	p.W306C	NM_020133.2	NP_064518.1	Q9NRZ5	PLCD_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.23e-17)|BRCA - Breast invasive adenocarcinoma(81;3.58e-05)	8	1130	-		Breast(66;0.000289)|Ovarian(120;0.0266)|Prostate(117;0.0285)	306					B4DSF9|Q5TEF0	Missense_Mutation	SNP	ENST00000320285.4	37	c.918G>C	CCDS5280.1	.	.	.	.	.	.	.	.	.	.	c	17.35	3.367181	0.61513	.	.	ENSG00000026652	ENST00000320285;ENST00000457520	T	0.31247	1.5	5.27	5.27	0.74061	.	0.059595	0.64402	D	0.000001	T	0.40145	0.1105	L	0.45352	1.415	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.78314	0.991;0.987	T	0.07712	-1.0758	10	0.36615	T	0.2	-38.0938	18.9082	0.92471	0.0:1.0:0.0:0.0	.	144;306	B4DSF9;Q9NRZ5	.;PLCD_HUMAN	C	306;144	ENSP00000314036:W306C	ENSP00000314036:W306C	W	-	3	0	AGPAT4	161480568	1.000000	0.71417	0.999000	0.59377	0.467000	0.32768	7.494000	0.81503	2.453000	0.82957	0.552000	0.68991	TGG		0.627	AGPAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042983.1	NM_020133		24	92	0	0	0	1	0	24	92					G	161560578	C	G	161560578	3	3	285	1	0	0	0	0	1	0	0	0	389	856	30	5	226	5	AGPAT4	6	161560578	Missense_Mutation	SNP	C	TCGA-J9-A52B-01A-11D-A26M-08	8909576	161560578	9554489	16	13108											
PEX2	5828	broad.mit.edu	37	chr8	77895775	77895775	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagcttggctttcaacttctGgacattgataagtggtaaga	11	13	10	7	0	2	2	1	1	1	1	2	3	2	3	0	3	2	3	0	3	3	6			TCGA-J9-A52B-01A-11D-A26M-08	TCGA-J9-A52B-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97303517-3824-482e-b245-cd3da03be6f1	6660b8f2-95ae-4689-a6e0-ed2edba45ccf	g.chr8:77895775G>A	ENST00000419564.2	-	4	1104	c.640C>T	c.(640-642)Cag>Tag	p.Q214*	PEX2_ENST00000357039.4_Nonsense_Mutation_p.Q214*|PEX2_ENST00000522527.1_Nonsense_Mutation_p.Q214*|PEX2_ENST00000520103.1_Nonsense_Mutation_p.Q214*	NM_001172087.1	NP_001165558.1	P28328	PEX2_HUMAN	peroxisomal biogenesis factor 2	214					bile acid biosynthetic process (GO:0006699)|cholesterol homeostasis (GO:0042632)|fatty acid beta-oxidation (GO:0006635)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|peroxisome organization (GO:0007031)|protein destabilization (GO:0031648)|protein import into peroxisome matrix (GO:0016558)|regulation of cholesterol biosynthetic process (GO:0045540)|very long-chain fatty acid metabolic process (GO:0000038)	Cdc73/Paf1 complex (GO:0016593)|integral component of peroxisomal membrane (GO:0005779)|membrane (GO:0016020)|peroxisomal membrane (GO:0005778)	zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)	14						TTCAACTTCTGGACATTGATA	0.398																																						ENST00000419564.2																			0				NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)	14						c.(640-642)Cag>Tag		peroxisomal biogenesis factor 2							100	98	99					8																	77895775		2203	4300	6503	SO:0001587	stop_gained	5828				peroxisome organization	integral to peroxisomal membrane	protein binding|zinc ion binding	g.chr8:77895775G>A	M86852	CCDS6221.1	8q21.11	2010-02-09	2010-01-25	2010-01-25		ENSG00000164751		"RING-type (C3HC4) zinc fingers"	9717	protein-coding gene	gene with protein product	"Zellweger syndrome", "peroxin 2"	170993	"peroxisomal membrane protein 3 (35kD, Zellweger syndrome)", "peroxisomal membrane protein 3, 35kDa"	PXMP3		1546315, 8858157	Standard	NM_000318		Approved	PMP35, PAF-1, RNF72, ZWS3	uc022awf.1	P28328		ENST00000419564.2:c.640C>T	8.37:g.77895775G>A	ENSP00000400984:p.Gln214*					PEX2_ENST00000520103.1_Nonsense_Mutation_p.Q214*|PEX2_ENST00000522527.1_Nonsense_Mutation_p.Q214*|PEX2_ENST00000357039.4_Nonsense_Mutation_p.Q214*	p.Q214*	NM_001172087.1	NP_001165558.1	P28328	PEX2_HUMAN			4	1104	-			214					Q567S6|Q9BW41	Nonsense_Mutation	SNP	ENST00000419564.2	37	c.640C>T	CCDS6221.1	.	.	.	.	.	.	.	.	.	.	G	38	7.052135	0.98029	.	.	ENSG00000164751	ENST00000357039;ENST00000419564;ENST00000520103;ENST00000522527	.	.	.	5.24	5.24	0.73138	.	0.118924	0.56097	D	0.000028	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.20519	T	0.43	-14.7945	19.0128	0.92881	0.0:0.0:1.0:0.0	.	.	.	.	X	214	.	ENSP00000349543:Q214X	Q	-	1	0	PEX2	78058330	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	3.638000	0.54332	2.733000	0.93635	0.557000	0.71058	CAG		0.398	PEX2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379122.1	NM_000318		13	96	0	0	0	1	0	13	96					A	77895775	G	A	77895775	4	1	285	1	0	0	0	0	0	1	0	0	11745	1357	47	3	281	3	PEX2	8	77895775	Nonsense_Mutation	SNP	G	TCGA-J9-A52B-01A-11D-A26M-08		77895775	68468247	17	13109											
SVEP1	79987	broad.mit.edu	37	chr9	113312165	113312165	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgagctaaagcctcaaattCttcaaaactgtgtagcaggt	13	10	9	9	1	3	0	2	0	1	0	3	1	3	0	1	1	4	3	1	1	6	4			TCGA-J9-A52B-01A-11D-A26M-08	TCGA-J9-A52B-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97303517-3824-482e-b245-cd3da03be6f1	6660b8f2-95ae-4689-a6e0-ed2edba45ccf	g.chr9:113312165C>A	ENST00000401783.2	-	2	1087	c.751G>T	c.(751-753)Gaa>Taa	p.E251*	SVEP1_ENST00000374461.1_Nonsense_Mutation_p.E228*|SVEP1_ENST00000302728.8_Nonsense_Mutation_p.E251*|SVEP1_ENST00000467821.1_5'UTR|SVEP1_ENST00000374469.1_Nonsense_Mutation_p.E228*	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	251	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|chromatin binding (GO:0003682)			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						GCCTCAAATTCTTCAAAACTG	0.463																																						ENST00000401783.2																			0				NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						c.(751-753)Gaa>Taa		sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1							72	68	69					9																	113312165		1927	4129	6056	SO:0001587	stop_gained	79987				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding	g.chr9:113312165C>A	AK027870		9q31-q32	2008-02-05	2005-03-15	2005-03-17	ENSG00000165124	ENSG00000165124			15985	protein-coding gene	gene with protein product		611691	"chromosome 9 open reading frame 13"	C9orf13			Standard	NM_153366		Approved	bA427L11.3, POLYDOM, FLJ13529	uc010mtz.3	Q4LDE5	OTTHUMG00000020482	ENST00000401783.2:c.751G>T	9.37:g.113312165C>A	ENSP00000384917:p.Glu251*					SVEP1_ENST00000302728.8_Nonsense_Mutation_p.E251*|SVEP1_ENST00000374469.1_Nonsense_Mutation_p.E228*|SVEP1_ENST00000374461.1_Nonsense_Mutation_p.E228*|SVEP1_ENST00000467821.1_5'UTR	p.E251*	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN			2	1087	-			251			VWFA.		Q0P675|Q5D213|Q5T938|Q5VTE4|Q5VTE5|Q7Z387|Q7Z3G3|Q8NBT9|Q96JU7|Q9H284|Q9H8J9	Nonsense_Mutation	SNP	ENST00000401783.2	37	c.751G>T	CCDS48004.1	.	.	.	.	.	.	.	.	.	.	C	43	10.379304	0.99394	.	.	ENSG00000165124	ENST00000401783;ENST00000374469;ENST00000302728;ENST00000374461	.	.	.	5.38	5.38	0.77491	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	19.497	0.95077	0.0:1.0:0.0:0.0	.	.	.	.	X	251;228;251;228	.	ENSP00000304118:E251X	E	-	1	0	SVEP1	112351986	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.384000	0.79751	2.677000	0.91161	0.563000	0.77884	GAA		0.463	SVEP1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				6	22	1	0	0.00116845	1	0.0012808	6	22					A	113312165	C	A	113312165	4	1	285	1	0	0	0	0	0	1	0	0	15417	922	32	5	10152	5	SVEP1	9	113312165	Nonsense_Mutation	SNP	C	TCGA-J9-A52B-01A-11D-A26M-08		113312165	27901266	18	13110											
ANKRD30A	91074	broad.mit.edu	37	chr10	37422959	37422959	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gagtaactgcagaacattatGctgttacttgtggatttcat	11	15	9	6	0	1	1	1	0	0	1	1	3	1	2	0	1	5	4	0	1	4	5			TCGA-J9-A52B-01A-11D-A26M-08	TCGA-J9-A52B-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97303517-3824-482e-b245-cd3da03be6f1	6660b8f2-95ae-4689-a6e0-ed2edba45ccf	g.chr10:37422959G>T	ENST00000602533.1	+	5	664	c.565G>T	c.(565-567)Gct>Tct	p.A189S	ANKRD30A_ENST00000361713.1_Missense_Mutation_p.A189S|RNU6-811P_ENST00000384069.1_RNA|ANKRD30A_ENST00000374660.1_Missense_Mutation_p.A189S			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	245					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						AGAACATTATGCTGTTACTTG	0.373																																						ENST00000374660.1																			0				NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						c.(565-567)Gct>Tct		ankyrin repeat domain 30A							327	304	311					10																	37422959		1895	4115	6010	SO:0001583	missense	91074					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr10:37422959G>T	AF269087	CCDS7193.1	10p11.21	2013-01-10			ENSG00000148513	ENSG00000148513		"Ankyrin repeat domain containing"	17234	protein-coding gene	gene with protein product	"breast cancer antigen NY-BR-1"	610856				11280766	Standard	NM_052997		Approved	NY-BR-1	uc001iza.1	Q9BXX3	OTTHUMG00000017968	ENST00000602533.1:c.565G>T	10.37:g.37422959G>T	ENSP00000473551:p.Ala189Ser					ANKRD30A_ENST00000361713.1_Missense_Mutation_p.A189S|ANKRD30A_ENST00000602533.1_Missense_Mutation_p.A189S	p.A189S			Q9BXX3	AN30A_HUMAN			5	664	+			245					Q5W025	Missense_Mutation	SNP	ENST00000602533.1	37	c.565G>T		.	.	.	.	.	.	.	.	.	.	.	12.68	2.010742	0.35511	.	.	ENSG00000148513	ENST00000361713;ENST00000374660	D;D	0.89123	-2.47;-2.47	1.43	1.43	0.22495	Ankyrin repeat-containing domain (3);	.	.	.	.	D	0.93357	0.7882	M	0.89414	3.03	0.09310	N	1	D	0.56968	0.978	D	0.63793	0.918	D	0.83954	0.0318	9	0.66056	D	0.02	.	6.3406	0.21321	0.0:0.0:1.0:0.0	.	245	Q9BXX3	AN30A_HUMAN	S	189	ENSP00000354432:A189S;ENSP00000363792:A189S	ENSP00000354432:A189S	A	+	1	0	ANKRD30A	37462965	1.000000	0.71417	0.015000	0.15790	0.023000	0.10783	3.612000	0.54142	0.811000	0.34303	0.289000	0.19496	GCT		0.373	ANKRD30A-001	KNOWN	NMD_exception|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000047588.2	NM_052997		53	104	1	0	5.82218e-30	1	6.77274e-30	53	104					T	37422959	G	T	37422959	3	4	285	1	0	0	0	0	1	0	0	0	658	1319	46	5	583	5	ANKRD30A	10	37422959	Missense_Mutation	SNP	G	TCGA-J9-A52B-01A-11D-A26M-08		37422959	98111788	19	13111											
FAT3	120114	broad.mit.edu	37	chr11	92577145	92577145	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aagtttctcacacttacatcCgcgtgcgagtcattgaggaa	11	11	9	10	3	2	1	2	1	1	0	4	3	3	2	1	1	2	1	1	1	3	3			TCGA-J9-A52B-01A-11D-A26M-08	TCGA-J9-A52B-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97303517-3824-482e-b245-cd3da03be6f1	6660b8f2-95ae-4689-a6e0-ed2edba45ccf	g.chr11:92577145C>T	ENST00000298047.6	+	18	10629	c.10612C>T	c.(10612-10614)Cgc>Tgc	p.R3538C	FAT3_ENST00000409404.2_Missense_Mutation_p.R3538C|FAT3_ENST00000525166.1_Missense_Mutation_p.R3388C|FAT3_ENST00000533797.1_5'Flank			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	3538	Cadherin 32. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				CACTTACATCCGCGTGCGAGT	0.468										TCGA Ovarian(4;0.039)																												ENST00000298047.6																			0				NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85						c.(10612-10614)Cgc>Tgc		FAT atypical cadherin 3							168	165	166					11																	92577145		1938	4140	6078	SO:0001583	missense	120114				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr11:92577145C>T	AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"Cadherins / Cadherin-related"	23112	protein-coding gene	gene with protein product	"cadherin-related family member 10"	612483	"FAT tumor suppressor homolog 3 (Drosophila)"			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.10612C>T	11.37:g.92577145C>T	ENSP00000298047:p.Arg3538Cys	TCGA Ovarian(4;0.039)				FAT3_ENST00000409404.2_Missense_Mutation_p.R3538C|FAT3_ENST00000525166.1_Missense_Mutation_p.R3388C	p.R3538C			Q8TDW7	FAT3_HUMAN			18	10629	+		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)	3538			Cadherin 32.		B5MDB0|Q96AU6	Missense_Mutation	SNP	ENST00000298047.6	37	c.10612C>T		.	.	.	.	.	.	.	.	.	.	C	13.38	2.221359	0.39300	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000525166	T;T;T	0.08282	3.11;3.11;3.11	5.62	5.62	0.85841	.	.	.	.	.	T	0.17492	0.0420	M	0.64404	1.975	0.80722	D	1	D	0.54047	0.964	P	0.46758	0.526	T	0.00247	-1.1881	9	0.54805	T	0.06	.	19.6523	0.95822	0.0:1.0:0.0:0.0	.	3538	Q8TDW7-3	.	C	3538;3538;3388	ENSP00000298047:R3538C;ENSP00000387040:R3538C;ENSP00000432586:R3388C	ENSP00000298047:R3538C	R	+	1	0	FAT3	92216793	0.286000	0.24305	0.203000	0.23512	0.175000	0.22909	3.062000	0.49971	2.650000	0.89964	0.561000	0.74099	CGC		0.468	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781		11	284	0	0	0	1	0	11	284					T	92577145	C	T	92577145	3	4	285	1	0	0	0	0	1	0	0	0	5691	652	23	2	10682	2	FAT3	11	92577145	Missense_Mutation	SNP	C	TCGA-J9-A52B-01A-11D-A26M-08		92577145	42429371	20	13112											
MTNR1B	4544	broad.mit.edu	37	chr11	92702949	92702949	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cgggcgggtgggcagtgcgcCcgggctggtcgggggctggc	1	5	24	11	5	0	0	0	0	0	0	1	0	0	0	1	8	1	3	1	8	0	0			TCGA-J9-A52B-01A-11D-A26M-08	TCGA-J9-A52B-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97303517-3824-482e-b245-cd3da03be6f1	6660b8f2-95ae-4689-a6e0-ed2edba45ccf	g.chr11:92702949C>T	ENST00000257068.2	+	1	64	c.58C>T	c.(58-60)Ccg>Tcg	p.P20S		NM_005959.3	NP_005950.1	P49286	MTR1B_HUMAN	melatonin receptor 1B	20					G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|glucose homeostasis (GO:0042593)|regulation of insulin secretion (GO:0050796)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|melatonin receptor activity (GO:0008502)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(19)|ovary(1)|prostate(2)|urinary_tract(1)	33		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)			Agomelatine(DB06594)|Melatonin(DB01065)|Ramelteon(DB00980)	GGCAGTGCGCCCGGGCTGGTC	0.741																																						ENST00000257068.2																			0				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(19)|ovary(1)|prostate(2)|urinary_tract(1)	33						c.(58-60)Ccg>Tcg		melatonin receptor 1B	Ramelteon(DB00980)						8	10	9					11																	92702949		2095	4074	6169	SO:0001583	missense	4544				G-protein signaling, coupled to cyclic nucleotide second messenger|glucose homeostasis|regulation of insulin secretion|synaptic transmission	integral to plasma membrane	melatonin receptor activity	g.chr11:92702949C>T	AB033598	CCDS8290.1	11q21-q22	2012-08-08			ENSG00000134640	ENSG00000134640		"GPCR / Class A : Melatonin receptors"	7464	protein-coding gene	gene with protein product		600804					Standard	NM_005959		Approved		uc001pdk.1	P49286	OTTHUMG00000167364	ENST00000257068.2:c.58C>T	11.37:g.92702949C>T	ENSP00000257068:p.Pro20Ser						p.P20S	NM_005959.3	NP_005950.1	P49286	MTR1B_HUMAN			1	64	+		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)	20						Missense_Mutation	SNP	ENST00000257068.2	37	c.58C>T	CCDS8290.1	.	.	.	.	.	.	.	.	.	.	C	12.34	1.907565	0.33721	.	.	ENSG00000134640	ENST00000257068	T	0.72835	-0.69	4.36	3.43	0.39272	.	0.333575	0.24003	N	0.042445	T	0.54319	0.1851	N	0.22421	0.69	0.09310	N	1	B	0.14438	0.01	B	0.06405	0.002	T	0.43360	-0.9396	10	0.30854	T	0.27	-12.5012	12.096	0.53755	0.0:0.9127:0.0:0.0873	.	20	P49286	MTR1B_HUMAN	S	20	ENSP00000257068:P20S	ENSP00000257068:P20S	P	+	1	0	MTNR1B	92342597	0.000000	0.05858	0.716000	0.30569	0.026000	0.11368	0.075000	0.14686	1.974000	0.57490	0.455000	0.32223	CCG		0.741	MTNR1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394323.1			6	38	0	0	0	1	0	6	38					T	92702949	C	T	92702949	3	4	285	1	0	0	0	0	1	0	0	0	9952	623	22	3	60	3	MTNR1B	11	92702949	Missense_Mutation	SNP	C	TCGA-J9-A52B-01A-11D-A26M-08	125804	92702949	42303567	21	13113											
RFXAP	5994	broad.mit.edu	37	chr13	37401782	37401782	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttttcttttctttctaagtcGttactaagaagtccagaagt	10	18	6	7	1	3	2	0	0	3	2	5	2	4	2	1	0	1	1	1	0	5	8			TCGA-J9-A52B-01A-11D-A26M-08	TCGA-J9-A52B-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97303517-3824-482e-b245-cd3da03be6f1	6660b8f2-95ae-4689-a6e0-ed2edba45ccf	g.chr13:37401782G>A	ENST00000255476.2	+	3	845	c.711G>A	c.(709-711)tcG>tcA	p.S237S	RFXAP_ENST00000472888.1_3'UTR	NM_000538.3	NP_000529.1	O00287	RFXAP_HUMAN	regulatory factor X-associated protein	237	C-terminal domain.				positive regulation of transcription, DNA-templated (GO:0045893)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)|ovary(1)	4		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)		all cancers(112;3.5e-07)|Epithelial(112;1.27e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.0069)|BRCA - Breast invasive adenocarcinoma(63;0.0116)|GBM - Glioblastoma multiforme(144;0.0405)		TTTCTAAGTCGTTACTAAGAA	0.323																																						ENST00000255476.2																			0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)|ovary(1)	4						c.(709-711)tcG>tcA		regulatory factor X-associated protein							68	65	66					13																	37401782		2203	4300	6503	SO:0001819	synonymous_variant	5994					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chr13:37401782G>A	Y12812	CCDS9359.1	13q14	2014-09-17			ENSG00000133111	ENSG00000133111			9988	protein-coding gene	gene with protein product		601861				9118943	Standard	NM_000538		Approved		uc001uvu.1	O00287	OTTHUMG00000016738	ENST00000255476.2:c.711G>A	13.37:g.37401782G>A						RFXAP_ENST00000472888.1_3'UTR	p.S237S	NM_000538.3	NP_000529.1	O00287	RFXAP_HUMAN		all cancers(112;3.5e-07)|Epithelial(112;1.27e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.0069)|BRCA - Breast invasive adenocarcinoma(63;0.0116)|GBM - Glioblastoma multiforme(144;0.0405)	3	845	+		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	237			C-terminal domain.		B2R9T8|Q5VZM6|Q8TC40	Silent	SNP	ENST00000255476.2	37	c.711G>A	CCDS9359.1																																																																																				0.323	RFXAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044521.1	NM_000538		9	36	0	0	0	1	0	9	36					A	37401782	G	A	37401782	2	1	285	1	0	0	0	0	0	0	0	1	13270	1132	40	1		1	RFXAP	13	37401782	Silent	SNP	G	TCGA-J9-A52B-01A-11D-A26M-08		37401782	77768096	22	13114											
GPR18	2841	broad.mit.edu	37	chr13	99907262	99907262	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agcctgaaattgttttgaaaCgatgtagtagagaatcacat	15	12	9	5	1	1	3	1	2	0	1	1	5	1	3	1	0	2	3	1	0	5	5			TCGA-J9-A52B-01A-11D-A26M-08	TCGA-J9-A52B-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97303517-3824-482e-b245-cd3da03be6f1	6660b8f2-95ae-4689-a6e0-ed2edba45ccf	g.chr13:99907262C>T	ENST00000340807.3	-	3	1421	c.865G>A	c.(865-867)Gtt>Att	p.V289I	UBAC2_ENST00000376440.2_Intron|GPR18_ENST00000397470.2_Missense_Mutation_p.V289I|UBAC2_ENST00000403766.3_Intron|GPR18_ENST00000397473.2_Missense_Mutation_p.V289I			Q14330	GPR18_HUMAN	G protein-coupled receptor 18	289					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			endometrium(2)|large_intestine(2)|lung(6)	10	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)				Glycine(DB00145)	TGTTTTGAAACGATGTAGTAG	0.473																																						ENST00000340807.3																			0				endometrium(2)|large_intestine(2)|lung(6)	10						c.(865-867)Gtt>Att		G protein-coupled receptor 18	Glycine(DB00145)						153	135	141					13																	99907262		2203	4300	6503	SO:0001583	missense	0					integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	g.chr13:99907262C>T	L42324	CCDS9491.1	13q32	2014-01-30			ENSG00000125245	ENSG00000125245		"GPCR / Class A : Orphans"	4472	protein-coding gene	gene with protein product		602042				9205118	Standard	NM_005292		Approved		uc010afv.3	Q14330	OTTHUMG00000017266	ENST00000340807.3:c.865G>A	13.37:g.99907262C>T	ENSP00000343428:p.Val289Ile					UBAC2_ENST00000403766.3_Intron|GPR18_ENST00000397473.2_Missense_Mutation_p.V289I|GPR18_ENST00000397470.2_Missense_Mutation_p.V289I|UBAC2_ENST00000376440.2_Intron	p.V289I			Q14330	GPR18_HUMAN			3	1421	-	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		289					Q6GTM3|Q96HI6|Q9H2L2	Missense_Mutation	SNP	ENST00000340807.3	37	c.865G>A	CCDS9491.1	.	.	.	.	.	.	.	.	.	.	C	28.4	4.915655	0.92178	.	.	ENSG00000125245	ENST00000397473;ENST00000397470;ENST00000340807	T;T;T	0.37235	1.21;1.21;1.21	5.97	5.97	0.96955	.	0.000000	0.85682	D	0.000000	T	0.50582	0.1624	L	0.29908	0.895	0.80722	D	1	D	0.89917	1.0	D	0.76575	0.988	T	0.30475	-0.9977	9	.	.	.	-29.1012	20.4388	0.99107	0.0:1.0:0.0:0.0	.	289	Q14330	GPR18_HUMAN	I	289	ENSP00000380613:V289I;ENSP00000380610:V289I;ENSP00000343428:V289I	.	V	-	1	0	GPR18	98705263	1.000000	0.71417	0.998000	0.56505	0.995000	0.86356	7.487000	0.81328	2.836000	0.97738	0.655000	0.94253	GTT		0.473	GPR18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045585.1			15	63	0	0	0	1	0	15	63					T	99907262	C	T	99907262	3	4	285	1	0	0	0	0	1	0	0	0	6675	536	19	1	134	1	GPR18	13	99907262	Missense_Mutation	SNP	C	TCGA-J9-A52B-01A-11D-A26M-08	62505480	99907262	15262616	23	13115											
LINGO1	84894	broad.mit.edu	37	chr15	77908223	77908223	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcatgctcctcacgccccccGccagcatcctcttgctcacc	5	8	6	22	2	3	0	2	0	1	0	5	0	5	0	7	0	3	4	7	0	0	1			TCGA-J9-A52B-01A-11D-A26M-08	TCGA-J9-A52B-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97303517-3824-482e-b245-cd3da03be6f1	6660b8f2-95ae-4689-a6e0-ed2edba45ccf	g.chr15:77908223G>A	ENST00000355300.6	-	2	200	c.26C>T	c.(25-27)gCg>gTg	p.A9V	LINGO1_ENST00000561030.1_Missense_Mutation_p.A3V	NM_032808.5	NP_116197.4	Q96FE5	LIGO1_HUMAN	leucine rich repeat and Ig domain containing 1	9					central nervous system neuron development (GO:0021954)|negative regulation of axonogenesis (GO:0050771)|negative regulation of oligodendrocyte differentiation (GO:0048715)|neuron projection development (GO:0031175)|neurotrophin TRK receptor signaling pathway (GO:0048011)|protein kinase B signaling (GO:0043491)|regulation of axonogenesis (GO:0050770)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	31						CACGCCCCCCGCCAGCATCCT	0.692																																						ENST00000355300.6																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	31						c.(25-27)gCg>gTg		leucine rich repeat and Ig domain containing 1							6	9	8					15																	77908223		2012	4109	6121	SO:0001583	missense	84894				negative regulation of axonogenesis|nerve growth factor receptor signaling pathway	integral to membrane|plasma membrane		g.chr15:77908223G>A	AK027500	CCDS45313.1, CCDS73766.1	15q24	2013-01-11	2007-02-01	2007-02-01		ENSG00000169783		"Immunoglobulin superfamily / I-set domain containing"	21205	protein-coding gene	gene with protein product		609791	"leucine rich repeat neuronal 6A"	LRRN6A		14686891	Standard	XM_006720723		Approved	FLJ14594, LERN1	uc002bct.1	Q96FE5		ENST00000355300.6:c.26C>T	15.37:g.77908223G>A	ENSP00000347451:p.Ala9Val					LINGO1_ENST00000561030.1_Missense_Mutation_p.A3V	p.A9V	NM_032808.5	NP_116197.4	Q96FE5	LIGO1_HUMAN			2	200	-			9					D3DW80|Q6NUK3|Q6UXM3|Q6VVG0|Q6VVG1|Q6VVG2|Q8N3K5|Q96K52	Missense_Mutation	SNP	ENST00000355300.6	37	c.26C>T	CCDS45313.1	.	.	.	.	.	.	.	.	.	.	g	10.12	1.264156	0.23136	.	.	ENSG00000169783	ENST00000355300	T	0.54675	0.56	5.62	4.65	0.58169	.	0.174211	0.50627	D	0.000111	T	0.38348	0.1037	N	0.19112	0.55	0.49483	D	0.999794	B	0.24368	0.102	B	0.15484	0.013	T	0.34279	-0.9835	10	0.72032	D	0.01	.	14.3725	0.66849	0.0:0.1474:0.8526:0.0	.	9	Q96FE5	LIGO1_HUMAN	V	9	ENSP00000347451:A9V	ENSP00000347451:A9V	A	-	2	0	LINGO1	75695278	1.000000	0.71417	1.000000	0.80357	0.903000	0.53119	5.013000	0.64023	2.655000	0.90218	0.556000	0.70494	GCG		0.692	LINGO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419546.1	NM_032808		6	7	0	0	0	1	0	6	7					A	77908223	G	A	77908223	3	1	285	1	0	0	0	0	1	0	0	0	8814	1087	38	1	1840	1	LINGO1	15	77908223	Missense_Mutation	SNP	G	TCGA-J9-A52B-01A-11D-A26M-08		77908223	24623169	24	13116											
LYSMD4	145748	broad.mit.edu	37	chr15	100269696	100269696	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cactgcacgctcaatatcctGgtcaatccccttaaagaagc	12	9	6	14	1	2	1	2	0	0	1	4	1	4	1	3	1	2	2	3	1	6	2			TCGA-J9-A52B-01A-11D-A26M-08	TCGA-J9-A52B-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97303517-3824-482e-b245-cd3da03be6f1	6660b8f2-95ae-4689-a6e0-ed2edba45ccf	g.chr15:100269696G>A	ENST00000409796.1	-	3	585	c.523C>T	c.(523-525)Cag>Tag	p.Q175*	LYSMD4_ENST00000344791.2_Nonsense_Mutation_p.Q176*|LYSMD4_ENST00000332728.4_Nonsense_Mutation_p.Q175*|LYSMD4_ENST00000604213.1_Intron|LYSMD4_ENST00000545021.1_Nonsense_Mutation_p.Q49*	NM_001284417.1|NM_001284418.1|NM_001284420.1	NP_001271346.1|NP_001271347.1|NP_001271349.1	Q5XG99	LYSM4_HUMAN	LysM, putative peptidoglycan-binding, domain containing 4	175						integral component of membrane (GO:0016021)				breast(1)|cervix(1)|kidney(2)|large_intestine(2)|lung(3)|stomach(1)	10	Lung NSC(78;0.00335)|all_lung(78;0.00659)|Melanoma(26;0.00778)|Medulloblastoma(229;0.163)		OV - Ovarian serous cystadenocarcinoma(32;0.00162)|LUSC - Lung squamous cell carcinoma(107;0.17)|Lung(145;0.208)			TCAATATCCTGGTCAATCCCC	0.582																																						ENST00000545021.1																			0				breast(1)|cervix(1)|kidney(2)|large_intestine(2)|lung(3)|stomach(1)	10						c.(145-147)Cag>Tag		LysM, putative peptidoglycan-binding, domain containing 4							82	79	80					15																	100269696		2203	4300	6503	SO:0001587	stop_gained	145748				cell wall macromolecule catabolic process	integral to membrane		g.chr15:100269696G>A	BC041097	CCDS10381.1, CCDS66876.1, CCDS66877.1, CCDS73788.1	15q26.3	2005-10-24			ENSG00000183060	ENSG00000183060			26571	protein-coding gene	gene with protein product						12477932	Standard	NM_001284418		Approved	FLJ33008	uc002bvl.3	Q5XG99	OTTHUMG00000149853	ENST00000409796.1:c.523C>T	15.37:g.100269696G>A	ENSP00000386283:p.Gln175*					LYSMD4_ENST00000604213.1_Intron|LYSMD4_ENST00000409796.1_Nonsense_Mutation_p.Q175*|LYSMD4_ENST00000332728.4_Nonsense_Mutation_p.Q175*|LYSMD4_ENST00000344791.2_Nonsense_Mutation_p.Q176*	p.Q49*			Q5XG99	LYSM4_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.00162)|LUSC - Lung squamous cell carcinoma(107;0.17)|Lung(145;0.208)		4	959	-	Lung NSC(78;0.00335)|all_lung(78;0.00659)|Melanoma(26;0.00778)|Medulloblastoma(229;0.163)		175					A6NII6|A8K2N1|Q96LY7	Nonsense_Mutation	SNP	ENST00000409796.1	37	c.145C>T		.	.	.	.	.	.	.	.	.	.	G	13.21	2.170030	0.38315	.	.	ENSG00000183060	ENST00000409796;ENST00000344791;ENST00000332728;ENST00000545021	.	.	.	5.13	4.19	0.49359	.	0.447160	0.25813	N	0.028136	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.12103	T	0.63	-14.4888	11.1226	0.48300	0.0:0.255:0.6135:0.1314	.	.	.	.	X	175;176;175;49	.	ENSP00000333008:Q175X	Q	-	1	0	LYSMD4	98087219	1.000000	0.71417	0.871000	0.34182	0.289000	0.27227	0.921000	0.28718	1.098000	0.41479	0.655000	0.94253	CAG		0.582	LYSMD4-005	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000335634.1	NM_152449		35	100	0	0	0	1	0	35	100					A	100269696	G	A	100269696	4	1	285	1	0	0	0	0	0	1	0	0	9127	1357	47	3	371	3	LYSMD4	15	100269696	Nonsense_Mutation	SNP	G	TCGA-J9-A52B-01A-11D-A26M-08	22361473	100269696	2261696	25	13117											
SRCAP	10847	broad.mit.edu	37	chr16	30744630	30744630	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agacgttggcagtgctgttgCggcagctcaaggcagagggc	8	7	17	9	2	1	2	1	0	0	2	1	2	1	2	0	4	3	7	0	4	1	2	rs371915992		TCGA-J9-A52B-01A-11D-A26M-08	TCGA-J9-A52B-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97303517-3824-482e-b245-cd3da03be6f1	6660b8f2-95ae-4689-a6e0-ed2edba45ccf	g.chr16:30744630C>T	ENST00000262518.4	+	28	6542	c.6157C>T	c.(6157-6159)Cgg>Tgg	p.R2053W	SRCAP_ENST00000395059.2_Missense_Mutation_p.R1991W|SRCAP_ENST00000344771.4_Missense_Mutation_p.R1895W	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	2053	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				histone acetylation (GO:0016573)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			AGTGCTGTTGCGGCAGCTCAA	0.517																																						ENST00000262518.4																			0				NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136						c.(6157-6159)Cgg>Tgg		Snf2-related CREBBP activator protein		C	TRP/ARG	0,4394		0,0,2197	98	91	93		6157	1.9	1	16		93	1,8599	1.2+/-3.3	0,1,4299	no	missense	SRCAP	NM_006662.2	101	0,1,6496	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	2053/3231	30744630	1,12993	2197	4300	6497	SO:0001583	missense	10847				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity	g.chr16:30744630C>T	AB002307	CCDS10689.2	16p11.2	2009-08-06			ENSG00000080603	ENSG00000080603			16974	protein-coding gene	gene with protein product	"Swi2/Snf2-related ATPase homolog (S. cerevisiae)", "domino homolog 1 (Drosophila)"	611421				10347196, 9205841	Standard	NM_006662		Approved	KIAA0309, EAF1, SWR1, DOMO1	uc002dze.1	Q6ZRS2	OTTHUMG00000132393	ENST00000262518.4:c.6157C>T	16.37:g.30744630C>T	ENSP00000262518:p.Arg2053Trp					SRCAP_ENST00000395059.2_Missense_Mutation_p.R1991W|SRCAP_ENST00000344771.4_Missense_Mutation_p.R1895W	p.R2053W	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Colorectal(24;0.198)		28	6542	+			2053			Helicase C-terminal.		B0JZA6|O15026|Q7Z744|Q9Y5L9	Missense_Mutation	SNP	ENST00000262518.4	37	c.6157C>T	CCDS10689.2	.	.	.	.	.	.	.	.	.	.	C	11.18	1.564174	0.27915	0.0	1.16E-4	ENSG00000080603	ENST00000262518;ENST00000395059;ENST00000344771	T;T;T	0.73897	-0.79;-0.79;-0.79	5.25	1.9	0.25705	Helicase, C-terminal (1);	0.000000	0.43747	D	0.000527	D	0.83399	0.5246	M	0.67700	2.07	0.32856	D	0.507365	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.87687	0.2551	10	0.87932	D	0	-10.0313	14.1684	0.65493	0.3994:0.6005:0.0:0.0	.	1991;2053	Q6ZRS2-2;Q6ZRS2	.;SRCAP_HUMAN	W	2053;1991;1895	ENSP00000262518:R2053W;ENSP00000378499:R1991W;ENSP00000343042:R1895W	ENSP00000262518:R2053W	R	+	1	2	SRCAP	30652131	1.000000	0.71417	0.996000	0.52242	0.970000	0.65996	3.048000	0.49862	0.700000	0.31782	0.655000	0.94253	CGG		0.517	SRCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255523.1	NM_006662		30	86	0	0	0	1	0	30	86					T	30744630	C	T	30744630	3	4	285	1	0	0	0	0	1	0	0	0	15134	759	27	1	6259	1	SRCAP	16	30744630	Missense_Mutation	SNP	C	TCGA-J9-A52B-01A-11D-A26M-08		30744630	59610123	26	13118											
KIAA1609	57707	broad.mit.edu	37	chr16	84516283	84516283	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gtgtgtacacagccatgctgGggcagatggagaacaggaag	12	6	16	7	0	0	2	0	0	0	2	0	4	0	3	1	4	4	3	1	4	3	1			TCGA-J9-A52B-01A-11D-A26M-08	TCGA-J9-A52B-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97303517-3824-482e-b245-cd3da03be6f1	6660b8f2-95ae-4689-a6e0-ed2edba45ccf	g.chr16:84516283G>A	ENST00000343629.6	-	6	1174	c.992C>T	c.(991-993)cCc>cTc	p.P331L	TLDC1_ENST00000535580.1_Missense_Mutation_p.P304L	NM_020947.3	NP_065998.3	Q6P9B6	TLDC1_HUMAN	TBC/LysM-associated domain containing 1	331	TLD.					lysosomal membrane (GO:0005765)											AGCCATGCTGGGGCAGATGGA	0.562																																						ENST00000343629.6																			0											c.(991-993)cCc>cTc		TBC/LysM-associated domain containing 1							150	113	126					16																	84516283		2200	4300	6500	SO:0001583	missense	57707							g.chr16:84516283G>A	AB046829	CCDS32498.1	16q24.1	2013-03-14	2013-03-14	2013-03-14	ENSG00000140950	ENSG00000140950			29325	protein-coding gene	gene with protein product	"TLD domain containing 1"		"KIAA1609"	KIAA1609		10997877	Standard	NM_020947		Approved		uc002fib.3	Q6P9B6	OTTHUMG00000176739	ENST00000343629.6:c.992C>T	16.37:g.84516283G>A	ENSP00000343635:p.Pro331Leu					TLDC1_ENST00000535580.1_Missense_Mutation_p.P304L	p.P331L	NM_020947.3	NP_065998.3					6	1174	-								Q8IZ64|Q9HCG3|Q9NTE8	Missense_Mutation	SNP	ENST00000343629.6	37	c.992C>T	CCDS32498.1	.	.	.	.	.	.	.	.	.	.	G	18.42	3.619070	0.66787	.	.	ENSG00000140950	ENST00000343629;ENST00000535580	T;T	0.55930	0.49;0.49	5.26	5.26	0.73747	TLDc (2);	0.000000	0.85682	D	0.000000	T	0.81422	0.4819	H	0.95224	3.64	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.998	D	0.87276	0.2289	10	0.87932	D	0	-42.9207	17.8655	0.88794	0.0:0.0:1.0:0.0	.	304;331	F5GWS3;Q6P9B6	.;K1609_HUMAN	L	331;304	ENSP00000343635:P331L;ENSP00000441997:P304L	ENSP00000343635:P331L	P	-	2	0	KIAA1609	83073784	1.000000	0.71417	0.742000	0.31022	0.054000	0.15201	9.169000	0.94788	2.458000	0.83093	0.655000	0.94253	CCC		0.562	TLDC1-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433421.1	NM_020947		3	43	0	0	0	1	0	3	43					A	84516283	G	A	84516283	3	1	285	1	0	0	0	0	1	0	0	0	8247	1232	43	3	390	3	KIAA1609	16	84516283	Missense_Mutation	SNP	G	TCGA-J9-A52B-01A-11D-A26M-08	53771653	84516283	5838470	27	13119											
TP53	7157	broad.mit.edu	37	chr17	7578548	7578569	+	Splice_Site	DEL	GGGAGTACTGTAGGAAGAGGAA	GGGAGTACTGTAGGAAGAGGAA	-																															aaacatcttgttgagggcagGggagtactgtaggaagagga																										TCGA-J9-A52B-01A-11D-A26M-08	TCGA-J9-A52B-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97303517-3824-482e-b245-cd3da03be6f1	6660b8f2-95ae-4689-a6e0-ed2edba45ccf	g.chr17:7578548_7578569delGGGAGTACTGTAGGAAGAGGAA	ENST00000269305.4	-	5	565_571	c.376_382delTTCCTCTTCCTACAGTACTCCC	c.(376-384)ttcctcttc>tc	p.FLF126fs	TP53_ENST00000455263.2_Splice_Site_p.FLF126fs|TP53_ENST00000445888.2_Splice_Site_p.FLF126fs|TP53_ENST00000359597.4_Splice_Site_p.FLF126fs|TP53_ENST00000420246.2_Splice_Site_p.FLF126fs|TP53_ENST00000413465.2_Splice_Site_p.FLF126fs|TP53_ENST00000574684.1_5'Flank	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	126	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		Y -> C (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in a sporadic cancer; somatic mutation).|Y -> G (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|Y -> H (in sporadic cancers; somatic mutation).|Y -> N (in sporadic cancers; somatic mutation).|Y -> S (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.?(81)|p.S127F(23)|p.Y126*(14)|p.Y126D(9)|p.S127Y(8)|p.0?(8)|p.S127C(7)|p.P128S(7)|p.S127T(6)|p.S127P(6)|p.Y126N(6)|p.Y126_K132delYSPALNK(6)|p.P128fs*42(5)|p.Y126C(4)|p.Y126_S127insQPHH(3)|p.Y126_N131delYSPALN(3)|p.A129fs*20(3)|p.Y33*(2)|p.Y33D(2)|p.S34C(2)|p.Y126fs*44(2)|p.Y126S(2)|p.Y126Y(1)|p.S127S(1)|p.S127_Q136del10(1)|p.T125_Y126insX(1)|p.V73fs*9(1)|p.S127fs*43(1)|p.S127fs*42(1)|p.P128del(1)|p.Y126fs*11(1)|p.S127fs*22(1)|p.S34F(1)|p.A36fs*20(1)|p.S34P(1)|p.P13fs*18(1)|p.Y126fs*18(1)|p.S127fs*36(1)|p.P128fs*18(1)|p.P128A(1)|p.Y33_S34insQPHH(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	TTGAGGGCAGGGGAGTACTGTAGGAAGAGGAAGGAGACAGAG	0.559		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"Mis, N, F"	tumor protein p53			"L, E, M, O"		"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"	"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"		228	Substitution - Missense(85)|Unknown(81)|Substitution - Nonsense(16)|Deletion - Frameshift(15)|Deletion - In frame(11)|Whole gene deletion(8)|Insertion - In frame(5)|Insertion - Frameshift(4)|Substitution - coding silent(2)|Complex - frameshift(1)	p.?(81)|p.S127F(23)|p.Y126*(14)|p.Y126D(9)|p.S127Y(8)|p.0?(8)|p.S127C(7)|p.P128S(7)|p.S127T(6)|p.S127P(6)|p.Y126N(6)|p.Y126_K132delYSPALNK(6)|p.P128fs*42(5)|p.Y126C(4)|p.Y126_S127insQPHH(3)|p.Y126_N131delYSPALN(3)|p.A129fs*20(3)|p.Y33*(2)|p.Y33D(2)|p.S34C(2)|p.Y126fs*44(2)|p.Y126S(2)|p.Y126Y(1)|p.S127S(1)|p.S127_Q136del10(1)|p.T125_Y126insX(1)|p.V73fs*9(1)|p.S127fs*43(1)|p.S127fs*42(1)|p.P128del(1)|p.Y126fs*11(1)|p.S127fs*22(1)|p.S34F(1)|p.A36fs*20(1)|p.S34P(1)|p.P13fs*18(1)|p.Y126fs*18(1)|p.S127fs*36(1)|p.P128fs*18(1)|p.P128A(1)|p.Y33_S34insQPHH(1)	lung(39)|breast(27)|ovary(24)|upper_aerodigestive_tract(19)|large_intestine(17)|central_nervous_system(15)|oesophagus(14)|haematopoietic_and_lymphoid_tissue(12)|pancreas(11)|urinary_tract(10)|prostate(9)|liver(6)|skin(6)|bone(5)|stomach(4)|NS(4)|biliary_tract(3)|autonomic_ganglia(1)|salivary_gland(1)|endometrium(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185	GRCh37	CI004819	TP53	I		c.e5-1	Other conserved DNA damage response genes	tumor protein p53																																				SO:0001630	splice_region_variant	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578548_7578569delGGGAGTACTGTAGGAAGAGGAA	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"Li-Fraumeni syndrome"	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.376-1TTCCTCTTCCTACAGTACTCCC>-	17.37:g.7578548_7578569delGGGAGTACTGTAGGAAGAGGAA		HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_ENST00000455263.2_Splice_Site_p.126_splice|TP53_ENST00000445888.2_Splice_Site_p.126_splice|TP53_ENST00000269305.4_Splice_Site_p.126_splice|TP53_ENST00000413465.2_Splice_Site_p.126_splice|TP53_ENST00000359597.4_Splice_Site_p.126_splice	p.126_splice	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	5	508_514	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	126		Y -> C (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in a sporadic cancer; somatic mutation).|Y -> G (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|Y -> H (in sporadic cancers; somatic mutation).|Y -> N (in sporadic cancers; somatic mutation).|Y -> S (in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Splice_Site	DEL	ENST00000269305.4	37	c.375_splice	CCDS11118.1																																																																																				0.559	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546	Frame_Shift_Del	7	20						7	20	---	---	---	---	-	7578569	GGGAGTACTGTAGGAAGAGGAA	-	7578548	8	5	285	1	0	1	0	1	0	0	1	0	16378	1232	43	0	916	0	TP53	17	7578548	Splice_Site	DEL	GGGAGTACTGTAGGAAGAGGAA	TCGA-J9-A52B-01A-11D-A26M-08		7578548	73616662	28	13120											
CHD3	1107	broad.mit.edu	37	chr17	7811746	7811746	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	acacactgtggcagaatgagGaacgggcagctatttcctcg	11	8	12	10	2	0	2	0	1	0	1	2	3	1	3	1	3	2	3	1	3	3	2			TCGA-J9-A52B-01A-11D-A26M-08	TCGA-J9-A52B-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97303517-3824-482e-b245-cd3da03be6f1	6660b8f2-95ae-4689-a6e0-ed2edba45ccf	g.chr17:7811746G>T	ENST00000330494.7	+	35	5329	c.5179G>T	c.(5179-5181)Gaa>Taa	p.E1727*	CHD3_ENST00000358181.4_Nonsense_Mutation_p.E1693*|CHD3_ENST00000380358.4_Nonsense_Mutation_p.E1786*|SCARNA21_ENST00000517026.1_RNA	NM_001005273.2	NP_001005273.1	Q12873	CHD3_HUMAN	chromodomain helicase DNA binding protein 3	1727	Required for interaction with PCNT.				centrosome organization (GO:0051297)|chromatin assembly or disassembly (GO:0006333)|chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|spindle organization (GO:0007051)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|nucleolus (GO:0005730)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65		Prostate(122;0.202)				GCAGAATGAGGAACGGGCAGC	0.488																																						ENST00000380358.4																			0				breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65						c.(5356-5358)Gaa>Taa		chromodomain helicase DNA binding protein 3							83	73	76					17																	7811746		2203	4300	6503	SO:0001587	stop_gained	1107				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|zinc ion binding	g.chr17:7811746G>T	U08379	CCDS32553.2, CCDS32554.1, CCDS32555.1	17p13	2013-01-28			ENSG00000170004	ENSG00000170004		"Zinc fingers, PHD-type"	1918	protein-coding gene	gene with protein product		602120				9326634, 7560064	Standard	NM_001005271		Approved	Mi-2a, ZFH, Mi2-ALPHA	uc002gjd.2	Q12873	OTTHUMG00000150427	ENST00000330494.7:c.5179G>T	17.37:g.7811746G>T	ENSP00000332628:p.Glu1727*					CHD3_ENST00000330494.7_Nonsense_Mutation_p.E1727*|CHD3_ENST00000358181.4_Nonsense_Mutation_p.E1693*	p.E1786*	NM_001005271.2	NP_001005271.2	Q12873	CHD3_HUMAN			35	5357	+		Prostate(122;0.202)	1727			Required for interaction with PCNT.		D3DTQ9|E9PG89|Q9Y4I0	Nonsense_Mutation	SNP	ENST00000330494.7	37	c.5356G>T	CCDS32554.1	.	.	.	.	.	.	.	.	.	.	G	45	11.505894	0.99569	.	.	ENSG00000170004	ENST00000380358;ENST00000358181;ENST00000330494;ENST00000439235;ENST00000449744	.	.	.	4.45	4.45	0.53987	.	0.000000	0.47455	D	0.000239	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-18.8558	17.2758	0.87114	0.0:0.0:1.0:0.0	.	.	.	.	X	1786;1693;1727;55;19	.	ENSP00000332628:E1727X	E	+	1	0	CHD3	7752471	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.657000	0.98554	2.311000	0.77944	0.561000	0.74099	GAA		0.488	CHD3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318050.1	NM_001005273		4	8	1	0	0.00448238	1	0.0047314	4	8					T	7811746	G	T	7811746	4	4	285	1	0	0	0	0	0	1	0	0	3326	1175	41	5	5598	5	CHD3	17	7811746	Nonsense_Mutation	SNP	G	TCGA-J9-A52B-01A-11D-A26M-08	233198	7811746	73383464	29	13121											
MYH10	4628	broad.mit.edu	37	chr17	8480573	8480573	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	caggaatattatggtcctttCttcctttatgtgaagaagca	11	15	8	7	0	1	2	0	1	1	1	3	3	3	3	2	2	1	1	2	2	6	6			TCGA-J9-A52B-01A-11D-A26M-08	TCGA-J9-A52B-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97303517-3824-482e-b245-cd3da03be6f1	6660b8f2-95ae-4689-a6e0-ed2edba45ccf	g.chr17:8480573C>T	ENST00000269243.4	-	5	752	c.614G>A	c.(613-615)aGa>aAa	p.R205K	MYH10_ENST00000360416.3_Missense_Mutation_p.R205K|MYH10_ENST00000396239.1_Missense_Mutation_p.R205K|MYH10_ENST00000379980.4_Missense_Mutation_p.R205K	NM_005964.3	NP_005955.3	P35580	MYH10_HUMAN	myosin, heavy chain 10, non-muscle	205	Myosin motor.				actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cardiac myofibril assembly (GO:0055003)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|cerebellar Purkinje cell layer development (GO:0021680)|exocytosis (GO:0006887)|fourth ventricle development (GO:0021592)|in utero embryonic development (GO:0001701)|lateral ventricle development (GO:0021670)|mitotic cytokinesis (GO:0000281)|neuromuscular process controlling balance (GO:0050885)|neuron migration (GO:0001764)|nuclear migration (GO:0007097)|plasma membrane repair (GO:0001778)|regulation of cell shape (GO:0008360)|retina development in camera-type eye (GO:0060041)|substrate-dependent cell migration, cell extension (GO:0006930)|third ventricle development (GO:0021678)|ventricular cardiac muscle cell development (GO:0055015)	actomyosin (GO:0042641)|axon (GO:0030424)|cell cortex (GO:0005938)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|midbody (GO:0030496)|myosin complex (GO:0016459)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle (GO:0005819)|stress fiber (GO:0001725)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1)	52						ATGGTCCTTTCTTCCTTTATG	0.353																																						ENST00000360416.3																			0				breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1)	52						c.(613-615)aGa>aAa		myosin, heavy chain 10, non-muscle							107	109	108					17																	8480573		2203	4300	6503	SO:0001583	missense	4628				actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape	cell cortex|cleavage furrow|midbody|myosin complex|stress fiber	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr17:8480573C>T	M69181	CCDS11144.1, CCDS58515.1, CCDS73984.1	17p13	2011-09-27	2006-09-29		ENSG00000133026	ENSG00000133026		"Myosins / Myosin superfamily : Class II"	7568	protein-coding gene	gene with protein product		160776	"myosin, heavy polypeptide 10, non-muscle"			1860190	Standard	NM_001256012		Approved	NMMHCB	uc002glm.4	P35580	OTTHUMG00000108195	ENST00000269243.4:c.614G>A	17.37:g.8480573C>T	ENSP00000269243:p.Arg205Lys					MYH10_ENST00000396239.1_Missense_Mutation_p.R205K|MYH10_ENST00000379980.4_Missense_Mutation_p.R205K|MYH10_ENST00000269243.4_Missense_Mutation_p.R205K	p.R205K	NM_001256012.1	NP_001242941.1	P35580	MYH10_HUMAN			5	752	-			205			Myosin head-like.		B2RWP9|D3DTS1|F8VTL3|Q12989|Q149N3|Q149N4|Q16087|Q4LE45|Q6PK16|Q9BWG0	Missense_Mutation	SNP	ENST00000269243.4	37	c.614G>A	CCDS11144.1	.	.	.	.	.	.	.	.	.	.	C	9.032	0.987537	0.18966	.	.	ENSG00000133026	ENST00000269243;ENST00000360416;ENST00000396239;ENST00000379980	T;T;D;T	0.95035	-0.54;-0.53;-3.59;-0.53	5.01	5.01	0.66863	Myosin head, motor domain (2);	0.047074	0.85682	D	0.000000	T	0.80439	0.4623	N	0.01267	-0.92	0.44477	D	0.997418	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.09377	0.004;0.002;0.004	T	0.77264	-0.2652	10	0.02654	T	1	.	11.9081	0.52723	0.0:0.9194:0.0:0.0806	.	205;205;205	B2RWP9;F8VTL3;P35580	.;.;MYH10_HUMAN	K	205	ENSP00000269243:R205K;ENSP00000353590:R205K;ENSP00000379539:R205K;ENSP00000369315:R205K	ENSP00000269243:R205K	R	-	2	0	MYH10	8421298	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	5.656000	0.67988	2.754000	0.94517	0.655000	0.94253	AGA		0.353	MYH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000227001.2			30	23	0	0	0	1	0	30	23					T	8480573	C	T	8480573	3	4	285	1	0	0	0	0	1	0	0	0	10030	913	32	3	5464	3	MYH10	17	8480573	Missense_Mutation	SNP	C	TCGA-J9-A52B-01A-11D-A26M-08	668827	8480573	72714637	30	13122											
TNFRSF13B	23495	broad.mit.edu	37	chr17	16843654	16843654	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	actcaccctgggaagacttgGccggactttgacggggcctt	7	9	13	12	2	1	2	1	1	0	1	1	4	1	4	3	5	0	0	3	5	1	3			TCGA-J9-A52B-01A-11D-A26M-08	TCGA-J9-A52B-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97303517-3824-482e-b245-cd3da03be6f1	6660b8f2-95ae-4689-a6e0-ed2edba45ccf	g.chr17:16843654G>A	ENST00000261652.2	-	4	629	c.617C>T	c.(616-618)gCc>gTc	p.A206V	TNFRSF13B_ENST00000581616.2_5'Flank|TNFRSF13B_ENST00000437538.2_Missense_Mutation_p.A160V|TNFRSF13B_ENST00000583789.1_Missense_Mutation_p.A160V|TNFRSF13B_ENST00000579315.1_Intron	NM_012452.2	NP_036584.1	O14836	TR13B_HUMAN	tumor necrosis factor receptor superfamily, member 13B	206					B cell homeostasis (GO:0001782)|cell surface receptor signaling pathway (GO:0007166)|hematopoietic progenitor cell differentiation (GO:0002244)|negative regulation of B cell proliferation (GO:0030889)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)	receptor activity (GO:0004872)			endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(7)|skin(1)	16						GGAAGACTTGGCCGGACTTTG	0.657									IgA Deficiency, Selective																													ENST00000437538.2																			0				endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(7)|skin(1)	16						c.(478-480)gCc>gTc		tumor necrosis factor receptor superfamily, member 13B							99	105	103					17																	16843654		2203	4300	6503	SO:0001583	missense	23495	IgA Deficiency, Selective	Familial Cancer Database	IGAD1, IGAD2	cell surface receptor linked signaling pathway	integral to plasma membrane	protein binding|receptor activity	g.chr17:16843654G>A	AF023614	CCDS11181.1	17p11.2	2014-09-17			ENSG00000240505	ENSG00000240505		"Tumor necrosis factor receptor superfamily", "CD molecules"	18153	protein-coding gene	gene with protein product		604907				9311921	Standard	NM_012452		Approved	TACI, CD267	uc002gqs.1	O14836	OTTHUMG00000059262	ENST00000261652.2:c.617C>T	17.37:g.16843654G>A	ENSP00000261652:p.Ala206Val					TNFRSF13B_ENST00000579315.1_Intron|TNFRSF13B_ENST00000261652.2_Missense_Mutation_p.A206V|TNFRSF13B_ENST00000583789.1_Missense_Mutation_p.A160V	p.A160V			O14836	TR13B_HUMAN			3	487	-			206					B2R8B0|B7Z6V8|Q32LX4|Q7Z6F5	Missense_Mutation	SNP	ENST00000261652.2	37	c.479C>T	CCDS11181.1	.	.	.	.	.	.	.	.	.	.	g	8.687	0.906560	0.17833	.	.	ENSG00000240505	ENST00000437538;ENST00000261652	D;D	0.93547	-3.24;-3.23	3.03	0.465	0.16711	.	0.660669	0.13021	N	0.420076	D	0.89076	0.6612	M	0.68952	2.095	0.09310	N	1	P;P	0.46784	0.884;0.816	B;B	0.37780	0.258;0.132	T	0.81826	-0.0754	10	0.62326	D	0.03	-6.1281	4.5939	0.12320	0.0:0.2504:0.4943:0.2553	.	160;206	O14836-2;O14836	.;TR13B_HUMAN	V	160;206	ENSP00000413453:A160V;ENSP00000261652:A206V	ENSP00000261652:A206V	A	-	2	0	TNFRSF13B	16784379	0.020000	0.18652	0.025000	0.17156	0.211000	0.24417	0.710000	0.25748	0.495000	0.27882	0.558000	0.71614	GCC		0.657	TNFRSF13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131474.2			57	106	0	0	0	1	0	57	106					A	16843654	G	A	16843654	3	1	285	1	0	0	0	0	1	0	0	0	16284	1203	42	3	272	3	TNFRSF13B	17	16843654	Missense_Mutation	SNP	G	TCGA-J9-A52B-01A-11D-A26M-08	8363081	16843654	64351556	31	13123											
FAM83G	644815	broad.mit.edu	37	chr17	18875037	18875037	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cctagtccctgaggcagggaCcctgtgatgatgaaactgct	9	9	12	11	0	0	4	0	4	0	0	1	5	1	5	3	2	2	2	3	2	2	1			TCGA-J9-A52B-01A-11D-A26M-08	TCGA-J9-A52B-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97303517-3824-482e-b245-cd3da03be6f1	6660b8f2-95ae-4689-a6e0-ed2edba45ccf	g.chr17:18875037C>A	ENST00000388995.6	-	6	2330	c.2107G>T	c.(2107-2109)Gtc>Ttc	p.V703F	FAM83G_ENST00000585154.2_Missense_Mutation_p.V703F|SLC5A10_ENST00000395645.3_Intron|FAM83G_ENST00000345041.4_Missense_Mutation_p.V703F|SLC5A10_ENST00000395643.2_Intron|SLC5A10_ENST00000317977.6_Intron|SLC5A10_ENST00000395642.1_Intron|SLC5A10_ENST00000417251.2_Intron|SLC5A10_ENST00000395647.2_Intron			A6ND36	FA83G_HUMAN	family with sequence similarity 83, member G	703					BMP signaling pathway (GO:0030509)	cytosol (GO:0005829)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(3)|stomach(1)	22						GAGGCAGGGACCCTGTGATGA	0.622																																						ENST00000388995.6																			0				central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(3)|stomach(1)	22						c.(2107-2109)Gtc>Ttc		family with sequence similarity 83, member G							42	49	47					17																	18875037		2016	4167	6183	SO:0001583	missense	644815							g.chr17:18875037C>A	AK123558	CCDS42276.1	17p11.2	2014-05-01	2006-03-22		ENSG00000188522	ENSG00000188522			32554	protein-coding gene	gene with protein product	"protein associated with SMAD1"	615886				24554596	Standard	NM_001039999		Approved	FLJ41564, PAWS1	uc002guw.3	A6ND36	OTTHUMG00000059411	ENST00000388995.6:c.2107G>T	17.37:g.18875037C>A	ENSP00000373647:p.Val703Phe					SLC5A10_ENST00000395643.2_Intron|SLC5A10_ENST00000417251.2_Intron|SLC5A10_ENST00000395645.3_Intron|SLC5A10_ENST00000395647.2_Intron|FAM83G_ENST00000585154.2_Missense_Mutation_p.V703F|SLC5A10_ENST00000395642.1_Intron|SLC5A10_ENST00000317977.6_Intron|FAM83G_ENST00000345041.4_Missense_Mutation_p.V703F	p.V703F			A6ND36	FA83G_HUMAN			6	2330	-			703					Q3KQZ4|Q6ZW60	Missense_Mutation	SNP	ENST00000388995.6	37	c.2107G>T	CCDS42276.1	.	.	.	.	.	.	.	.	.	.	C	5.780	0.328333	0.10956	.	.	ENSG00000188522	ENST00000388995;ENST00000345041	T;T	0.11604	2.76;2.76	5.14	-1.09	0.09904	.	5.603940	0.00520	N	0.000194	T	0.06690	0.0171	N	0.22421	0.69	0.09310	N	1	B	0.32653	0.379	B	0.27796	0.083	T	0.21690	-1.0238	10	0.56958	D	0.05	-0.6332	0.3915	0.00411	0.2309:0.2694:0.2509:0.2487	.	703	A6ND36	FA83G_HUMAN	F	703	ENSP00000373647:V703F;ENSP00000343279:V703F	ENSP00000343279:V703F	V	-	1	0	FAM83G	18815762	0.000000	0.05858	0.005000	0.12908	0.063000	0.16089	-0.108000	0.10857	-0.328000	0.08539	0.561000	0.74099	GTC		0.622	FAM83G-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253108.4			27	53	1	0	1.74807e-11	1	1.9928e-11	27	53					A	18875037	C	A	18875037	3	1	285	1	0	0	0	0	1	0	0	0	5639	507	18	5	368	5	FAM83G	17	18875037	Missense_Mutation	SNP	C	TCGA-J9-A52B-01A-11D-A26M-08	2031383	18875037	62320173	32	13124											
PLIN3	10226	broad.mit.edu	37	chr19	4852140	4852141	+	Frame_Shift_Del	DEL	TT	TT	-																															aagcgggagcccatgaccgaTtggacgccgccggtcactac																								rs572114830		TCGA-J9-A52B-01A-11D-A26M-08	TCGA-J9-A52B-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97303517-3824-482e-b245-cd3da03be6f1	6660b8f2-95ae-4689-a6e0-ed2edba45ccf	g.chr19:4852140_4852141delTT	ENST00000221957.4	-	5	697_698	c.521_522delAA	c.(520-522)caafs	p.Q174fs	PLIN3_ENST00000592528.1_Frame_Shift_Del_p.Q162fs|PLIN3_ENST00000585479.1_Frame_Shift_Del_p.Q174fs	NM_001164189.1|NM_001164194.1|NM_005817.4	NP_001157661.1|NP_001157666.1|NP_005808.3	O60664	PLIN3_HUMAN	perilipin 3	174					vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|lipid particle (GO:0005811)|membrane (GO:0016020)				cervix(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)	9					Galsulfase(DB01279)|Idursulfase(DB01271)	CCATGACCGATTGGACGCCGCC	0.663											OREG0025175	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000221957.4																			0				cervix(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)	9						c.(520-522)cfs		perilipin 3	Galsulfase(DB01279)|Idursulfase(DB01271)																																			SO:0001589	frameshift_variant	10226				vesicle-mediated transport	endosome membrane|Golgi apparatus|lipid particle	protein binding	g.chr19:4852140_4852141delTT	AF051314	CCDS12137.1, CCDS59337.1, CCDS59338.1	19p13.3	2009-08-12	2009-08-12	2009-08-12		ENSG00000105355		"Perilipins"	16893	protein-coding gene	gene with protein product	"cargo selection protein (mannose 6 phosphate receptor binding protein)", "placental protein 17", "MPR-BINDING PROTEIN, 47-KD"	602702	"mannose-6-phosphate receptor binding protein 1"	M6PRBP1		9590177, 6856484, 19638644	Standard	NM_005817		Approved	TIP47, PP17	uc002mbj.2	O60664		ENST00000221957.4:c.521_522delAA	19.37:g.4852140_4852141delTT	ENSP00000221957:p.Gln174fs		OREG0025175	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	622	PLIN3_ENST00000592528.1_Frame_Shift_Del_p.Q162fs|PLIN3_ENST00000585479.1_Frame_Shift_Del_p.Q174fs	p.Q174fs	NM_001164189.1|NM_001164194.1|NM_005817.4	NP_001157661.1|NP_001157666.1|NP_005808.3	O60664	PLIN3_HUMAN			5	697_698	-			174					A8K4Y9|K7EQF4|Q53G77|Q9BS03|Q9UBD7|Q9UP92	Frame_Shift_Del	DEL	ENST00000221957.4	37	c.521_522delAA	CCDS12137.1																																																																																				0.663	PLIN3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000450436.1	NM_005817		31	45						31	45	---	---	---	---	-	4852141	TT	-	4852140	7	5	285	1	0	1	0	1	0	0	0	0	12091	1490	52	0	798	0	PLIN3	19	4852140	Frame_Shift_Del	DEL	TT	TCGA-J9-A52B-01A-11D-A26M-08		4852140	54276843	33	13125											
MAST1	22983	broad.mit.edu	37	chr19	12954360	12954360	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagggcggacggacgccggtGgtctctggcctcgctccctt	3	8	15	15	5	1	0	0	0	1	0	4	2	2	2	3	6	0	1	3	6	0	1			TCGA-J9-A52B-01A-11D-A26M-08	TCGA-J9-A52B-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97303517-3824-482e-b245-cd3da03be6f1	6660b8f2-95ae-4689-a6e0-ed2edba45ccf	g.chr19:12954360G>C	ENST00000251472.4	+	4	305	c.266G>C	c.(265-267)tGg>tCg	p.W89S	MAST1_ENST00000591495.1_Missense_Mutation_p.W85S	NM_014975.2	NP_055790.1			microtubule associated serine/threonine kinase 1											NS(1)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(20)|ovary(5)|prostate(5)|skin(3)	56						GGACGCCGGTGGTCTCTGGCC	0.657																																						ENST00000251472.4																			0				NS(1)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(20)|ovary(5)|prostate(5)|skin(3)	56						c.(265-267)tGg>tCg		microtubule associated serine/threonine kinase 1							64	56	59					19																	12954360		2203	4300	6503	SO:0001583	missense	22983				cytoskeleton organization|intracellular protein kinase cascade	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr19:12954360G>C	AB023190	CCDS32921.1	19p13.2	2008-02-05				ENSG00000105613			19034	protein-coding gene	gene with protein product		612256					Standard	NM_014975		Approved	SAST, KIAA0973	uc002mvm.3	Q9Y2H9		ENST00000251472.4:c.266G>C	19.37:g.12954360G>C	ENSP00000251472:p.Trp89Ser					MAST1_ENST00000591495.1_Missense_Mutation_p.W85S	p.W89S	NM_014975.2	NP_055790.1	Q9Y2H9	MAST1_HUMAN			4	305	+			89						Missense_Mutation	SNP	ENST00000251472.4	37	c.266G>C	CCDS32921.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.116603	0.77323	.	.	ENSG00000105613	ENST00000251472;ENST00000542153	T	0.51574	0.7	4.43	4.43	0.53597	Microtubule-associated serine/threonine-protein kinase, domain (1);	0.000000	0.64402	D	0.000001	T	0.74854	0.3771	M	0.92268	3.29	0.80722	D	1	D;D	0.76494	0.999;0.995	D;D	0.76071	0.987;0.947	T	0.82174	-0.0588	10	0.72032	D	0.01	-16.6165	14.9453	0.71026	0.0:0.0:1.0:0.0	.	89;89	Q9Y2H9;F5H2S9	MAST1_HUMAN;.	S	89	ENSP00000251472:W89S	ENSP00000251472:W89S	W	+	2	0	MAST1	12815360	1.000000	0.71417	0.996000	0.52242	0.992000	0.81027	9.448000	0.97600	2.189000	0.69895	0.655000	0.94253	TGG		0.657	MAST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451733.2	NM_014975		46	67	0	0	0	1	0	46	67					C	12954360	G	C	12954360	3	2	285	1	0	0	0	0	1	0	0	0	9324	1357	47	5	280	5	MAST1	19	12954360	Missense_Mutation	SNP	G	TCGA-J9-A52B-01A-11D-A26M-08	8102220	12954360	46174623	34	13126											
DLL3	10683	broad.mit.edu	37	chr19	39995920	39995920	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cgcgtgggttctacgggctgCggtgtgaggtgagcggggtg	3	9	22	7	5	1	2	0	2	1	0	1	2	1	2	0	6	3	2	0	6	1	2			TCGA-J9-A52B-01A-11D-A26M-08	TCGA-J9-A52B-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97303517-3824-482e-b245-cd3da03be6f1	6660b8f2-95ae-4689-a6e0-ed2edba45ccf	g.chr19:39995920C>T	ENST00000205143.4	+	6	929	c.922C>T	c.(922-924)Cgg>Tgg	p.R308W	DLL3_ENST00000356433.5_Missense_Mutation_p.R308W	NM_016941.3	NP_058637.1	Q9NYJ7	DLL3_HUMAN	delta-like 3 (Drosophila)	308	EGF-like 2. {ECO:0000255|PROSITE- ProRule:PRU00076}.				compartment pattern specification (GO:0007386)|negative regulation of neurogenesis (GO:0050768)|Notch signaling pathway (GO:0007219)|paraxial mesoderm development (GO:0048339)|skeletal system development (GO:0001501)|somitogenesis (GO:0001756)	integral component of membrane (GO:0016021)	Notch binding (GO:0005112)			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(7)	19	all_cancers(60;4.04e-06)|all_lung(34;1.77e-07)|Lung NSC(34;2.09e-07)|all_epithelial(25;1.13e-05)|Ovarian(47;0.159)		Epithelial(26;5.89e-26)|all cancers(26;1.96e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			CTACGGGCTGCGGTGTGAGGT	0.587																																						ENST00000205143.4																			0				breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(7)	19						c.(922-924)Cgg>Tgg		delta-like 3 (Drosophila)							126	105	112					19																	39995920		2203	4300	6503	SO:0001583	missense	10683				Notch signaling pathway|skeletal system development	integral to membrane	Notch binding	g.chr19:39995920C>T	AF241373	CCDS12537.1, CCDS12538.1	19q13.2	2008-05-14	2001-12-03			ENSG00000090932			2909	protein-coding gene	gene with protein product		602768	"delta (Drosophila)-like 3"			10364530, 10742114	Standard	NM_203486		Approved	SCDO1	uc002olx.2	Q9NYJ7		ENST00000205143.4:c.922C>T	19.37:g.39995920C>T	ENSP00000205143:p.Arg308Trp					DLL3_ENST00000356433.5_Missense_Mutation_p.R308W	p.R308W	NM_016941.3	NP_058637.1	Q9NYJ7	DLL3_HUMAN	Epithelial(26;5.89e-26)|all cancers(26;1.96e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)		6	929	+	all_cancers(60;4.04e-06)|all_lung(34;1.77e-07)|Lung NSC(34;2.09e-07)|all_epithelial(25;1.13e-05)|Ovarian(47;0.159)		308			EGF-like 2.		E9PFG2|Q8NBS4	Missense_Mutation	SNP	ENST00000205143.4	37	c.922C>T	CCDS12538.1	.	.	.	.	.	.	.	.	.	.	C	16.17	3.047674	0.55110	.	.	ENSG00000090932	ENST00000356433;ENST00000205143	D;D	0.91792	-2.91;-2.8	5.23	4.13	0.48395	Epidermal growth factor-like (1);EGF-like region, conserved site (2);Epidermal growth factor-like, type 3 (1);	0.000000	0.39210	N	0.001436	D	0.91922	0.7442	L	0.55743	1.74	0.42328	D	0.992289	D;D;D	0.65815	0.995;0.995;0.984	P;P;P	0.54210	0.745;0.636;0.636	D	0.90824	0.4711	9	.	.	.	.	10.745	0.46175	0.3531:0.6469:0.0:0.0	.	308;308;308	Q8NBS4;Q9NYJ7;E9PFG2	.;DLL3_HUMAN;.	W	308	ENSP00000348810:R308W;ENSP00000205143:R308W	.	R	+	1	2	DLL3	44687760	1.000000	0.71417	0.125000	0.21846	0.047000	0.14425	3.302000	0.51849	2.444000	0.82710	0.561000	0.74099	CGG		0.587	DLL3-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000464958.1			65	94	0	0	0	1	0	65	94					T	39995920	C	T	39995920	3	4	285	1	0	0	0	0	1	0	0	0	4567	759	27	1	944	1	DLL3	19	39995920	Missense_Mutation	SNP	C	TCGA-J9-A52B-01A-11D-A26M-08	27041560	39995920	19133063	35	13127											
ATF4	468	broad.mit.edu	37	chr22	39917951	39917951	+	Frame_Shift_Del	DEL	C	C	-																															tccaggagactaataagcagCccccccagacggtgaaccca																										TCGA-J9-A52B-01A-11D-A26M-08	TCGA-J9-A52B-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97303517-3824-482e-b245-cd3da03be6f1	6660b8f2-95ae-4689-a6e0-ed2edba45ccf	g.chr22:39917951delC	ENST00000337304.2	+	2	1282	c.400delC	c.(400-402)cccfs	p.P135fs	ATF4_ENST00000404241.2_Frame_Shift_Del_p.P135fs|ATF4_ENST00000396680.1_Frame_Shift_Del_p.P135fs	NM_001675.2	NP_001666.2	P18848	ATF4_HUMAN	activating transcription factor 4	135					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular amino acid metabolic process (GO:0006520)|cellular protein metabolic process (GO:0044267)|circadian regulation of gene expression (GO:0032922)|endoplasmic reticulum unfolded protein response (GO:0030968)|gamma-aminobutyric acid signaling pathway (GO:0007214)|gluconeogenesis (GO:0006094)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|negative regulation of oxidative stress-induced neuron death (GO:1903204)|negative regulation of potassium ion transport (GO:0043267)|positive regulation of apoptotic process (GO:0043065)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to endoplasmic reticulum stress (GO:1990440)|positive regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0036091)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|response to endoplasmic reticulum stress (GO:0034976)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dendrite membrane (GO:0032590)|Lewy body core (GO:1990037)|neuron projection (GO:0043005)|nuclear periphery (GO:0034399)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)	11	Melanoma(58;0.04)				Pseudoephedrine(DB00852)	TAATAAGCAGCCCCCCCAGAC	0.527																																						ENST00000337304.2																			0				breast(1)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)	11						c.(400-402)ccfs		activating transcription factor 4							161	177	172					22																	39917951		2203	4300	6503	SO:0001589	frameshift_variant	468				cellular amino acid metabolic process|gluconeogenesis|positive regulation of transcription from RNA polymerase II promoter|response to endoplasmic reticulum stress|transcription from RNA polymerase II promoter	cytoplasm|plasma membrane	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr22:39917951delC	D90209	CCDS13996.1	22q13.1	2013-05-23	2013-05-23		ENSG00000128272	ENSG00000128272		"basic leucine zipper proteins"	786	protein-coding gene	gene with protein product	"tax-responsive enhancer element B67"	604064	"activating transcription factor 4 (tax-responsive enhancer element B67)"	TXREB		1847461, 1534408	Standard	NM_182810		Approved	TAXREB67, CREB-2	uc003axz.3	P18848	OTTHUMG00000151099	ENST00000337304.2:c.400delC	22.37:g.39917951delC	ENSP00000336790:p.Pro135fs					ATF4_ENST00000404241.2_Frame_Shift_Del_p.P135fs|ATF4_ENST00000396680.1_Frame_Shift_Del_p.P135fs	p.P135fs	NM_001675.2	NP_001666.2	P18848	ATF4_HUMAN			2	1282	+	Melanoma(58;0.04)		135					Q9UH31	Frame_Shift_Del	DEL	ENST00000337304.2	37	c.400delC	CCDS13996.1																																																																																				0.527	ATF4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321305.1	NM_001675		80	264						80	264	---	---	---	---	-	39917951	C	-	39917951	7	5	285	1	0	1	0	1	0	0	0	0	1082	739	26	0	406	0	ATF4	22	39917951	Frame_Shift_Del	DEL	C	TCGA-J9-A52B-01A-11D-A26M-08		39917951	11386615	36	13128											
TCF20	6942	broad.mit.edu	37	chr22	42608481	42608481	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agtggtctccagatttcttgTtgttgaaactagcttgagat	9	16	10	6	0	2	3	0	2	2	2	3	4	2	3	1	1	2	3	1	1	2	6			TCGA-J9-A52B-01A-11D-A26M-08	TCGA-J9-A52B-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97303517-3824-482e-b245-cd3da03be6f1	6660b8f2-95ae-4689-a6e0-ed2edba45ccf	g.chr22:42608481T>A	ENST00000359486.3	-	1	2967	c.2831A>T	c.(2830-2832)aAc>aTc	p.N944I	TCF20_ENST00000404876.1_5'Flank|TCF20_ENST00000335626.4_Missense_Mutation_p.N944I	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN	transcription factor 20 (AR1)	944					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						AGATTTCTTGTTGTTGAAACT	0.493																																						ENST00000359486.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						c.(2830-2832)aAc>aTc		transcription factor 20 (AR1)							86	82	83					22																	42608481		2203	4300	6503	SO:0001583	missense	6942				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding	g.chr22:42608481T>A	U19345	CCDS14032.1, CCDS14033.1	22q13.3	2011-02-08			ENSG00000100207	ENSG00000100207			11631	protein-coding gene	gene with protein product	"stromelysin-1 platelet-derived growth factor-responsive element binding protein"	603107				9730594, 10995766	Standard	NM_005650		Approved	AR1, SPBP	uc003bcj.1	Q9UGU0	OTTHUMG00000150920	ENST00000359486.3:c.2831A>T	22.37:g.42608481T>A	ENSP00000352463:p.Asn944Ile					TCF20_ENST00000335626.4_Missense_Mutation_p.N944I	p.N944I	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN			1	2967	-			944					A9JX12|O14528|Q13078|Q4V353|Q9H4M0	Missense_Mutation	SNP	ENST00000359486.3	37	c.2831A>T	CCDS14033.1	.	.	.	.	.	.	.	.	.	.	T	12.12	1.843693	0.32606	.	.	ENSG00000100207	ENST00000359486;ENST00000335626	T;T	0.59364	0.27;0.27	5.43	2.08	0.27032	.	0.391477	0.26654	N	0.023189	T	0.38692	0.1050	N	0.14661	0.345	0.80722	D	1	P;P	0.46220	0.874;0.8	B;B	0.42422	0.387;0.216	T	0.25293	-1.0136	10	0.59425	D	0.04	-12.9445	8.7195	0.34432	0.0:0.3062:0.0:0.6938	.	944;944	Q9UGU0-2;Q9UGU0	.;TCF20_HUMAN	I	944	ENSP00000352463:N944I;ENSP00000335561:N944I	ENSP00000335561:N944I	N	-	2	0	TCF20	40938425	0.997000	0.39634	1.000000	0.80357	0.885000	0.51271	0.193000	0.17116	0.519000	0.28406	-0.315000	0.08773	AAC		0.493	TCF20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320531.1	NM_181492		24	83	0	0	0	1	0	24	83					A	42608481	T	A	42608481	3	1	285	1	0	0	0	0	1	0	0	0	15687	1725	60	5	3089	5	TCF20	22	42608481	Missense_Mutation	SNP	T	TCGA-J9-A52B-01A-11D-A26M-08	2690530	42608481	8696085	37	13129											
DCAF12L1	139170	broad.mit.edu	37	chrX	125685925	125685925	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	gtcatcgaacttgtccgggtCcatccgccacagcgccacag	8	7	10	16	4	1	0	1	0	0	0	5	1	4	0	5	1	2	0	5	1	1	1			TCGA-J9-A52B-01A-11D-A26M-08	TCGA-J9-A52B-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97303517-3824-482e-b245-cd3da03be6f1	6660b8f2-95ae-4689-a6e0-ed2edba45ccf	g.chrX:125685925C>G	ENST00000371126.1	-	1	909	c.667G>C	c.(667-669)Gac>Cac	p.D223H		NM_178470.4	NP_848565.2	Q5VU92	DC121_HUMAN	DDB1 and CUL4 associated factor 12-like 1	223										breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(39)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68						TTGTCCGGGTCCATCCGCCAC	0.657																																						ENST00000371126.1																			0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(39)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68						c.(667-669)Gac>Cac		DDB1 and CUL4 associated factor 12-like 1							34	35	35					X																	125685925		2203	4297	6500	SO:0001583	missense	139170							g.chrX:125685925C>G	BC035674	CCDS14610.1	Xq25	2013-01-09	2009-07-17	2009-07-17	ENSG00000198889	ENSG00000198889		"WD repeat domain containing"	29395	protein-coding gene	gene with protein product			"WD repeat domain 40B"	WDR40B		12477932	Standard	NM_178470		Approved	KIAA1892L	uc004eul.3	Q5VU92	OTTHUMG00000022353	ENST00000371126.1:c.667G>C	X.37:g.125685925C>G	ENSP00000360167:p.Asp223His						p.D223H	NM_178470.4	NP_848565.2	Q5VU92	DC121_HUMAN			1	909	-			223					Q8IYK3	Missense_Mutation	SNP	ENST00000371126.1	37	c.667G>C	CCDS14610.1	.	.	.	.	.	.	.	.	.	.	C	10.17	1.275428	0.23307	.	.	ENSG00000198889	ENST00000371126	T	0.64618	-0.11	3.89	1.12	0.20585	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.236986	0.21833	N	0.068442	T	0.69133	0.3077	M	0.63428	1.95	0.09310	N	1	D	0.89917	1.0	D	0.87578	0.998	T	0.57142	-0.7862	10	0.56958	D	0.05	.	3.4259	0.07410	0.0:0.4587:0.1958:0.3455	.	223	Q5VU92	DC121_HUMAN	H	223	ENSP00000360167:D223H	ENSP00000360167:D223H	D	-	1	0	DCAF12L1	125513606	0.946000	0.32159	0.000000	0.03702	0.217000	0.24651	1.513000	0.35823	0.109000	0.17891	-0.563000	0.04171	GAC		0.657	DCAF12L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058186.1	NM_178470		6	40	0	0	0	1	0	6	40					G	125685925	C	G	125685925	3	3	285	1	0	0	0	0	1	0	0	0	4264	855	30	5	728	5	DCAF12L1	23	125685925	Missense_Mutation	SNP	C	TCGA-J9-A52B-01A-11D-A26M-08		125685925	29584635	38	13130											
SAMD11	148398	broad.mit.edu	37	chr1	878744	878745	+	Frame_Shift_Del	DEL	GA	GA	-																															ggggggcctgtctggctgtgGagagtacactcgggtaaggg																								rs72902602|rs138897766	byFrequency	TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr1:878744_878745delGA	ENST00000342066.3	+	12	1759_1760	c.1676_1677delGA	c.(1675-1677)ggafs	p.G559fs		NM_152486.2	NP_689699	Q96NU1	SAM11_HUMAN	sterile alpha motif domain containing 11	559	SAM. {ECO:0000255|PROSITE- ProRule:PRU00184}.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	nucleus (GO:0005634)				breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.74e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.93e-23)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.000472)|Kidney(185;0.0023)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.199)		TCTGGCTGTGGAGAGTACACTC	0.658																																						ENST00000342066.3																			0				breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						c.(1675-1677)gfs		sterile alpha motif domain containing 11																																				SO:0001589	frameshift_variant	148398					nucleus		g.chr1:878744_878745delGA	BC024295	CCDS2.2	1p36.33	2013-01-10			ENSG00000187634	ENSG00000187634		"Sterile alpha motif (SAM) domain containing"	28706	protein-coding gene	gene with protein product						12477932	Standard	NM_152486		Approved	MGC45873	uc001abw.1	Q96NU1	OTTHUMG00000040719	ENST00000342066.3:c.1676_1677delGA	1.37:g.878746_878747delGA	ENSP00000342313:p.Gly559fs						p.G559fs	NM_152486.2	NP_689699.2	Q96NU1	SAM11_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.74e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.93e-23)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.000472)|Kidney(185;0.0023)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.199)	12	1759_1760	+	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)	559			SAM.		A2AA76|I7FV78|I7FV81|I7G0Z6|Q5SV96|Q5SV99|Q5SVA0|Q8N195|Q8TB59	Frame_Shift_Del	DEL	ENST00000342066.3	37	c.1676_1677delGA	CCDS2.2																																																																																				0.658	SAMD11-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276866.2	NM_152486		15	63						15	63	---	---	---	---	-	878745	GA	-	878744	7	5	286	1	0	1	0	1	0	0	0	0	13816	1174	41	0	1718	0	SAMD11	1	878744	Frame_Shift_Del	DEL	GA	TCGA-J9-A52C-01A-11D-A26M-08		878744	248371877	1	13131											
AGRN	375790	broad.mit.edu	37	chr1	986959	986959	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctcaatggggcctcctgcGtcccgagggaggctgcctat	5	8	14	14	2	1	0	1	0	0	0	3	2	3	1	5	4	2	1	5	4	2	1	rs377622440		TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr1:986959G>A	ENST00000379370.2	+	32	5547	c.5497G>A	c.(5497-5499)Gtc>Atc	p.V1833I		NM_198576.3	NP_940978.2	O00468	AGRIN_HUMAN	agrin	1837	EGF-like 4. {ECO:0000255|PROSITE- ProRule:PRU00076}.				axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|clustering of voltage-gated sodium channels (GO:0045162)|extracellular matrix organization (GO:0030198)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|neuromuscular junction development (GO:0007528)|neurotransmitter receptor metabolic process (GO:0045213)|phototransduction, visible light (GO:0007603)|plasma membrane organization (GO:0007009)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of synaptic growth at neuromuscular junction (GO:0045887)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|receptor clustering (GO:0043113)|retinoid metabolic process (GO:0001523)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synapse organization (GO:0050808)	basal lamina (GO:0005605)|cell junction (GO:0030054)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)|synapse (GO:0045202)	acetylcholine receptor regulator activity (GO:0030548)|calcium ion binding (GO:0005509)|chondroitin sulfate binding (GO:0035374)|dystroglycan binding (GO:0002162)|heparan sulfate proteoglycan binding (GO:0043395)|laminin binding (GO:0043236)|sialic acid binding (GO:0033691)|structural constituent of cytoskeleton (GO:0005200)			breast(1)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	42	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00462)|Epithelial(90;5.98e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.43e-23)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000201)|Kidney(185;0.0024)|BRCA - Breast invasive adenocarcinoma(365;0.00246)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0354)|Lung(427;0.201)		GGCCTCCTGCGTCCCGAGGGA	0.706																																						ENST00000379370.2																			0				breast(1)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	42						c.(5497-5499)Gtc>Atc		agrin		G	ILE/VAL	0,4386		0,0,2193	14	15	15		5497	-7.3	0	1		15	1,8583		0,1,4291	no	missense	AGRN	NM_198576.3	29	0,1,6484	AA,AG,GG		0.0116,0.0,0.0077	benign	1833/2046	986959	1,12969	2193	4292	6485	SO:0001583	missense	375790				axon guidance|clustering of voltage-gated sodium channels|muscarinic acetylcholine receptor signaling pathway|receptor clustering	basal lamina	laminin binding|structural constituent of cytoskeleton	g.chr1:986959G>A	XM_372195	CCDS30551.1	1p36.33	2014-09-17		2007-02-16	ENSG00000188157	ENSG00000188157		"Proteoglycans / Extracellular Matrix : Other"	329	protein-coding gene	gene with protein product	"agrin proteoglycan"	103320				1851019, 12270958	Standard	NM_198576		Approved	AGRIN	uc001ack.2	O00468	OTTHUMG00000040778	ENST00000379370.2:c.5497G>A	1.37:g.986959G>A	ENSP00000368678:p.Val1833Ile						p.V1833I	NM_198576.3	NP_940978.2	O00468	AGRIN_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (11;0.00462)|Epithelial(90;5.98e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.43e-23)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000201)|Kidney(185;0.0024)|BRCA - Breast invasive adenocarcinoma(365;0.00246)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0354)|Lung(427;0.201)	32	5547	+	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)	1833			EGF-like 4.		Q5SVA1|Q5SVA2|Q60FE1|Q7KYS8|Q8N4J5|Q96IC1|Q9BTD4	Missense_Mutation	SNP	ENST00000379370.2	37	c.5497G>A	CCDS30551.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	0.998|0.998	-0.691856|-0.691856	0.03303|0.03303	0.0|0.0	1.16E-4|1.16E-4	ENSG00000188157|ENSG00000188157	ENST00000419249|ENST00000379370;ENST00000379364	.|D	.|0.92446	.|-3.04	4.96|4.96	-7.34|-7.34	0.01427|0.01427	.|Concanavalin A-like lectin/glucanase, subgroup (1);EGF (1);Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	.|1.705140	.|0.03476	.|N	.|0.214372	D|D	0.82522|0.82522	0.5055|0.5055	N|N	0.20610|0.20610	0.595|0.595	0.09310|0.09310	N|N	1|1	.|B	.|0.09022	.|0.002	.|B	.|0.06405	.|0.002	T|T	0.69997|0.69997	-0.4993|-0.4993	5|10	.|0.33940	.|T	.|0.23	-7.2887|-7.2887	6.4608|6.4608	0.21956|0.21956	0.2294:0.1655:0.5114:0.0937|0.2294:0.1655:0.5114:0.0937	.|.	.|1833	.|O00468	.|AGRIN_HUMAN	H|I	135|1833;176	.|ENSP00000368678:V1833I	.|ENSP00000368671:V176I	R|V	+|+	2|1	0|0	AGRN|AGRN	976822|976822	0.000000|0.000000	0.05858|0.05858	0.007000|0.007000	0.13788|0.13788	0.037000|0.037000	0.13140|0.13140	-1.260000|-1.260000	0.02858|0.02858	-1.324000|-1.324000	0.02272|0.02272	-0.232000|-0.232000	0.12228|0.12228	CGT|GTC		0.706	AGRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097990.2	NM_198576		3	10	0	0	0	1	0	3	10					A	986959	G	A	986959	3	1	286	1	0	0	0	0	1	0	0	0	397	1145	40	1	5623	1	AGRN	1	986959	Missense_Mutation	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	108215	986959	248263662	2	13132											
PRKCZ	5590	broad.mit.edu	37	chr1	2105390	2105390	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	catgtttgagatgatggccgGgcgctccccgttcgacatca	7	10	12	12	4	1	2	1	2	0	1	3	4	2	2	3	2	0	3	3	2	0	2			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr1:2105390G>T	ENST00000400921.2	+	11	1474	c.791G>T	c.(790-792)gGg>gTg	p.G264V	PRKCZ_ENST00000400920.1_Missense_Mutation_p.G264V|PRKCZ_ENST00000479263.1_3'UTR	NM_001033581.1	NP_001028753.1	Q05513	KPCZ_HUMAN	protein kinase C, zeta	447	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				actin cytoskeleton reorganization (GO:0031532)|activation of phospholipase D activity (GO:0031584)|activation of protein kinase B activity (GO:0032148)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|establishment of cell polarity (GO:0030010)|inflammatory response (GO:0006954)|insulin receptor signaling pathway (GO:0008286)|long-term memory (GO:0007616)|long-term synaptic potentiation (GO:0060291)|membrane hyperpolarization (GO:0060081)|microtubule cytoskeleton organization (GO:0000226)|negative regulation of apoptotic process (GO:0043066)|negative regulation of hydrolase activity (GO:0051346)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of peptidyl-tyrosine phosphorylation (GO:0050732)|negative regulation of protein complex assembly (GO:0031333)|neuron projection extension (GO:1990138)|peptidyl-serine phosphorylation (GO:0018105)|platelet activation (GO:0030168)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of glucose import (GO:0046326)|positive regulation of insulin receptor signaling pathway (GO:0046628)|positive regulation of interleukin-10 secretion (GO:2001181)|positive regulation of interleukin-13 secretion (GO:2000667)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of interleukin-5 secretion (GO:2000664)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of T-helper 2 cell cytokine production (GO:2000553)|positive regulation of T-helper 2 cell differentiation (GO:0045630)|protein heterooligomerization (GO:0051291)|protein kinase C signaling (GO:0070528)|protein localization to plasma membrane (GO:0072659)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)|transforming growth factor beta receptor signaling pathway (GO:0007179)|vesicle transport along microtubule (GO:0047496)	apical cortex (GO:0045179)|apical plasma membrane (GO:0016324)|axon hillock (GO:0043203)|cell junction (GO:0030054)|cell leading edge (GO:0031252)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|membrane raft (GO:0045121)|microtubule organizing center (GO:0005815)|myelin sheath abaxonal region (GO:0035748)|nuclear envelope (GO:0005635)|nuclear matrix (GO:0016363)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|tight junction (GO:0005923)	ATP binding (GO:0005524)|insulin receptor substrate binding (GO:0043560)|potassium channel regulator activity (GO:0015459)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(4)|endometrium(1)|large_intestine(5)|lung(5)|stomach(1)	18	all_cancers(77;0.000177)|all_epithelial(69;6.41e-05)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;1.14e-19)|all_lung(118;1.22e-08)|Lung NSC(185;1.24e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;2.96e-37)|OV - Ovarian serous cystadenocarcinoma(86;3.3e-23)|GBM - Glioblastoma multiforme(42;2.85e-08)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.00294)|BRCA - Breast invasive adenocarcinoma(365;0.00493)|STAD - Stomach adenocarcinoma(132;0.00669)|KIRC - Kidney renal clear cell carcinoma(229;0.0411)|Lung(427;0.213)	Tamoxifen(DB00675)	ATGATGGCCGGGCGCTCCCCG	0.627											OREG0013007	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000400921.2																			0				breast(2)|central_nervous_system(4)|endometrium(1)|large_intestine(5)|lung(5)|stomach(1)	18						c.(790-792)gGg>gTg		protein kinase C, zeta							151	127	135					1																	2105390		2203	4300	6503	SO:0001583	missense	5590				anti-apoptosis|intracellular signal transduction|negative regulation of insulin receptor signaling pathway|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of protein complex assembly|peptidyl-serine phosphorylation|platelet activation	endosome	ATP binding|protein kinase C activity|zinc ion binding	g.chr1:2105390G>T	BC014270	CCDS37.1, CCDS41229.1, CCDS55563.1	1p36.33-p36.2	2009-07-10			ENSG00000067606	ENSG00000067606	2.7.11.1		9412	protein-coding gene	gene with protein product		176982					Standard	NM_001242874		Approved	PKC2	uc001aiq.3	Q05513	OTTHUMG00000001238	ENST00000400921.2:c.791G>T	1.37:g.2105390G>T	ENSP00000383712:p.Gly264Val		OREG0013007	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	601	PRKCZ_ENST00000400920.1_Missense_Mutation_p.G264V|PRKCZ_ENST00000479263.1_3'UTR	p.G264V	NM_001033581.1	NP_001028753.1	Q05513	KPCZ_HUMAN		Epithelial(90;2.96e-37)|OV - Ovarian serous cystadenocarcinoma(86;3.3e-23)|GBM - Glioblastoma multiforme(42;2.85e-08)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.00294)|BRCA - Breast invasive adenocarcinoma(365;0.00493)|STAD - Stomach adenocarcinoma(132;0.00669)|KIRC - Kidney renal clear cell carcinoma(229;0.0411)|Lung(427;0.213)	11	1474	+	all_cancers(77;0.000177)|all_epithelial(69;6.41e-05)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;1.14e-19)|all_lung(118;1.22e-08)|Lung NSC(185;1.24e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)	447			Protein kinase.		A8K4N0|A8MU64|B7Z2J7|E9PCW2|Q15207|Q5SYT5|Q969S4	Missense_Mutation	SNP	ENST00000400921.2	37	c.791G>T	CCDS41229.1	.	.	.	.	.	.	.	.	.	.	G	16.14	3.038383	0.54896	.	.	ENSG00000067606	ENST00000378567;ENST00000400921;ENST00000461106;ENST00000400920	T;T;T;T	0.39592	1.07;1.07;1.07;1.07	4.93	3.99	0.46301	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.80154	0.4571	H	0.99830	4.82	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.998;0.996;0.998;0.998	D	0.88085	0.2809	10	0.87932	D	0	.	13.1368	0.59413	0.0:0.1626:0.8374:0.0	.	343;271;343;447	E9PCW2;B3KUN5;B7Z2J7;Q05513	.;.;.;KPCZ_HUMAN	V	447;264;343;264	ENSP00000367830:G447V;ENSP00000383712:G264V;ENSP00000426412:G343V;ENSP00000383711:G264V	ENSP00000367830:G447V	G	+	2	0	PRKCZ	2095250	1.000000	0.71417	0.213000	0.23690	0.011000	0.07611	9.044000	0.93805	1.172000	0.42781	0.585000	0.79938	GGG		0.627	PRKCZ-009	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000098533.3	NM_002744		23	91	1	0	5.35356e-11	1	5.505e-11	23	91					T	2105390	G	T	2105390	3	4	286	1	0	0	0	0	1	0	0	0	12517	1232	43	5	1394	5	PRKCZ	1	2105390	Missense_Mutation	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	1118431	2105390	247145231	3	13133											
KIAA0562	9731	broad.mit.edu	37	chr1	3750452	3750452	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaaatttgcagctgtgacgcGgaggcgggcagaagaatctc	12	7	14	8	3	1	3	0	1	1	2	2	4	1	4	0	3	2	3	0	3	4	1			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr1:3750452G>A	ENST00000378230.3	-	12	1957	c.1633C>T	c.(1633-1635)Cgc>Tgc	p.R545C	CEP104_ENST00000460038.1_5'UTR	NM_014704.3	NP_055519.1	O60308	CE104_HUMAN	centrosomal protein 104kDa	545						centriole (GO:0005814)	glutamate binding (GO:0016595)|glycine binding (GO:0016594)|thienylcyclohexylpiperidine binding (GO:0016596)	p.R545C(1)		breast(2)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(14)|lung(8)|prostate(1)|skin(3)	39						GCTGTGACGCGGAGGCGGGCA	0.443																																						ENST00000378230.3																			1	Substitution - Missense(1)	p.R545C(1)	breast(1)	breast(2)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(14)|lung(8)|prostate(1)|skin(3)	39						c.(1633-1635)Cgc>Tgc		centrosomal protein 104kDa							111	109	110					1																	3750452		2203	4300	6503	SO:0001583	missense	9731					centriole	binding	g.chr1:3750452G>A	AB011134	CCDS30571.1	1p36.32	2014-02-20	2011-05-06	2011-05-06	ENSG00000116198	ENSG00000116198			24866	protein-coding gene	gene with protein product	"glycine, glutamate, thienylcyclohexylpiperidine binding protein"		"KIAA0562"	KIAA0562		7488117, 21399614	Standard	NM_014704		Approved	GlyBP, RP1-286D6.4	uc001aky.2	O60308	OTTHUMG00000003507	ENST00000378230.3:c.1633C>T	1.37:g.3750452G>A	ENSP00000367476:p.Arg545Cys					CEP104_ENST00000460038.1_5'UTR	p.R545C	NM_014704.3	NP_055519.1	O60308	CE104_HUMAN			12	1957	-			545					Q5JSQ3|Q5SR24|Q5SR25|Q6PKF5|Q86W32|Q86X14	Missense_Mutation	SNP	ENST00000378230.3	37	c.1633C>T	CCDS30571.1	.	.	.	.	.	.	.	.	.	.	G	14.72	2.621020	0.46736	.	.	ENSG00000116198	ENST00000378230	T	0.75821	-0.97	5.03	5.03	0.67393	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.85592	0.5732	M	0.81942	2.565	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	D	0.87083	0.2167	10	0.66056	D	0.02	.	12.4703	0.55783	0.0:0.0:0.8328:0.1672	.	545;545	O60308-3;O60308	.;CE104_HUMAN	C	545	ENSP00000367476:R545C	ENSP00000367476:R545C	R	-	1	0	CEP104	3740312	1.000000	0.71417	0.040000	0.18447	0.279000	0.26890	5.279000	0.65597	2.329000	0.79093	0.467000	0.42956	CGC		0.443	CEP104-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009747.3	NM_014704		5	53	0	0	0	1	0	5	53					A	3750452	G	A	3750452	3	1	286	1	0	0	0	0	1	0	0	0	8184	1116	39	2	1188	2	KIAA0562	1	3750452	Missense_Mutation	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	1645062	3750452	245500169	4	13134											
C1orf174	339448	broad.mit.edu	37	chr1	3806546	3806546	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acatttctgcatcatcgtcgTcgtcatcatcatcatctttg	8	16	5	12	3	7	0	5	0	2	0	10	0	7	0	0	0	1	1	0	0	0	2			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr1:3806546T>C	ENST00000361605.3	-	4	808	c.710A>G	c.(709-711)gAc>gGc	p.D237G	C1orf174_ENST00000486765.1_5'UTR	NM_207356.2	NP_997239.2	Q8IYL3	CA174_HUMAN	chromosome 1 open reading frame 174	237	Poly-Asp.					nucleus (GO:0005634)				endometrium(1)|large_intestine(5)|lung(4)|prostate(1)	11	all_cancers(77;0.0395)|Ovarian(185;0.0634)|all_lung(157;0.222)|Lung NSC(156;0.227)	all_cancers(23;5.09e-25)|all_epithelial(116;9.35e-17)|all_lung(118;1.09e-06)|Lung NSC(185;0.000139)|all_neural(13;0.00287)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0219)|all_hematologic(16;0.027)|Colorectal(325;0.0276)|Myeloproliferative disorder(586;0.0393)|Lung SC(97;0.0743)|Ovarian(437;0.127)		Epithelial(90;1.55e-39)|OV - Ovarian serous cystadenocarcinoma(86;5.99e-23)|GBM - Glioblastoma multiforme(42;2.22e-17)|Colorectal(212;1.08e-05)|COAD - Colon adenocarcinoma(227;5.49e-05)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(365;0.000365)|KIRC - Kidney renal clear cell carcinoma(229;0.00549)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.19)		atcatcgtcgtcgtcatcatc	0.388																																						ENST00000361605.3																			0				endometrium(1)|large_intestine(5)|lung(4)|prostate(1)	11						c.(709-711)gAc>gGc		chromosome 1 open reading frame 174							206	174	184					1																	3806546		2203	4300	6503	SO:0001583	missense	339448							g.chr1:3806546T>C	BC035643	CCDS53.1	1p36.32	2012-07-25			ENSG00000198912	ENSG00000198912			27915	protein-coding gene	gene with protein product						12477932	Standard	NM_207356		Approved	RP13-531C17.2	uc001alf.3	Q8IYL3	OTTHUMG00000003739	ENST00000361605.3:c.710A>G	1.37:g.3806546T>C	ENSP00000355306:p.Asp237Gly					C1orf174_ENST00000486765.1_5'UTR	p.D237G	NM_207356.2	NP_997239.2	Q8IYL3	CA174_HUMAN		Epithelial(90;1.55e-39)|OV - Ovarian serous cystadenocarcinoma(86;5.99e-23)|GBM - Glioblastoma multiforme(42;2.22e-17)|Colorectal(212;1.08e-05)|COAD - Colon adenocarcinoma(227;5.49e-05)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(365;0.000365)|KIRC - Kidney renal clear cell carcinoma(229;0.00549)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.19)	4	808	-	all_cancers(77;0.0395)|Ovarian(185;0.0634)|all_lung(157;0.222)|Lung NSC(156;0.227)	all_cancers(23;5.09e-25)|all_epithelial(116;9.35e-17)|all_lung(118;1.09e-06)|Lung NSC(185;0.000139)|all_neural(13;0.00287)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0219)|all_hematologic(16;0.027)|Colorectal(325;0.0276)|Myeloproliferative disorder(586;0.0393)|Lung SC(97;0.0743)|Ovarian(437;0.127)	237			Poly-Asp.		A8K0C8|A8MUG9|Q5SR20|Q6NX36	Missense_Mutation	SNP	ENST00000361605.3	37	c.710A>G	CCDS53.1	.	.	.	.	.	.	.	.	.	.	T	19.38	3.816214	0.70912	.	.	ENSG00000198912	ENST00000361605	T	0.29397	1.57	5.38	5.38	0.77491	.	0.376047	0.28241	N	0.016079	T	0.46229	0.1382	L	0.54323	1.7	0.47737	D	0.999506	D	0.61080	0.989	P	0.58820	0.846	T	0.37267	-0.9713	10	0.46703	T	0.11	-6.491	14.5532	0.68081	0.0:0.0:0.0:1.0	.	237	Q8IYL3	CA174_HUMAN	G	237	ENSP00000355306:D237G	ENSP00000355306:D237G	D	-	2	0	C1orf174	3796406	0.972000	0.33761	0.047000	0.18901	0.003000	0.03518	2.841000	0.48223	2.038000	0.60285	0.477000	0.44152	GAC		0.388	C1orf174-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010539.1	NM_207356		7	30	0	0	0	1	0	7	30					C	3806546	T	C	3806546	3	2	286	1	0	0	0	0	1	0	0	0	2015	1667	58	4	25	4	C1orf174	1	3806546	Missense_Mutation	SNP	T	TCGA-J9-A52C-01A-11D-A26M-08	56094	3806546	245444075	5	13135											
THAP3	90326	broad.mit.edu	37	chr1	6688564	6688564	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcctctgcccttaggtttcCgttcagccgcccggagctgc	3	11	11	16	3	2	0	1	0	1	0	3	1	3	1	5	2	5	3	5	2	1	3			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr1:6688564C>T	ENST00000054650.4	+	3	238	c.80C>T	c.(79-81)cCg>cTg	p.P27L	THAP3_ENST00000307896.6_Missense_Mutation_p.P27L|THAP3_ENST00000484676.1_3'UTR|THAP3_ENST00000377627.3_Missense_Mutation_p.P27L	NM_001195753.1	NP_001182682.1	Q8WTV1	THAP3_HUMAN	THAP domain containing, apoptosis associated protein 3	27							DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|cervix(1)|large_intestine(1)|prostate(1)	4	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;7.39e-28)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156)		Colorectal(212;1.29e-07)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0642)		CTTAGGTTTCCGTTCAGCCGC	0.597																																						ENST00000377627.3																			0				breast(1)|cervix(1)|large_intestine(1)|prostate(1)	4						c.(79-81)cCg>cTg		THAP domain containing, apoptosis associated protein 3							37	34	35					1																	6688564		2203	4300	6503	SO:0001583	missense	90326						DNA binding|metal ion binding	g.chr1:6688564C>T	BC022081	CCDS86.1, CCDS55572.1, CCDS55573.1	1p36.1	2013-01-25			ENSG00000041988	ENSG00000041988		"THAP (C2CH-type zinc finger) domain containing"	20855	protein-coding gene	gene with protein product		612532				12575992	Standard	NM_138350		Approved		uc001aod.3	Q8WTV1	OTTHUMG00000001440	ENST00000054650.4:c.80C>T	1.37:g.6688564C>T	ENSP00000054650:p.Pro27Leu					THAP3_ENST00000484676.1_3'UTR|THAP3_ENST00000054650.4_Missense_Mutation_p.P27L|THAP3_ENST00000307896.6_Missense_Mutation_p.P27L	p.P27L	NM_138350.3	NP_612359.2	Q8WTV1	THAP3_HUMAN		Colorectal(212;1.29e-07)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0642)	2	107	+	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;7.39e-28)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156)	27					Q569K1|Q5TH66|Q5TH67|Q8N8T6|Q9BSC7|Q9Y3H2|Q9Y3H3	Missense_Mutation	SNP	ENST00000054650.4	37	c.80C>T	CCDS55572.1	.	.	.	.	.	.	.	.	.	.	C	20.0	3.930502	0.73327	.	.	ENSG00000041988	ENST00000054650;ENST00000307896;ENST00000377627	D;D;D	0.99695	-6.43;-6.43;-6.43	5.01	5.01	0.66863	Zinc finger, C2CH-type (4);	0.000000	0.53938	D	0.000046	D	0.99813	0.9918	H	0.96576	3.845	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;0.999;1.0	D	0.96881	0.9646	10	0.87932	D	0	-26.9429	13.8015	0.63204	0.0:1.0:0.0:0.0	.	27;27;27	Q8WTV1-4;Q8WTV1-3;Q8WTV1	.;.;THAP3_HUMAN	L	27	ENSP00000054650:P27L;ENSP00000311537:P27L;ENSP00000366854:P27L	ENSP00000054650:P27L	P	+	2	0	THAP3	6611151	1.000000	0.71417	0.994000	0.49952	0.456000	0.32438	5.581000	0.67471	2.319000	0.78375	0.484000	0.47621	CCG		0.597	THAP3-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000004203.1	NM_138350		3	19	0	0	0	1	0	3	19					T	6688564	C	T	6688564	3	4	286	1	0	0	0	0	1	0	0	0	15842	652	23	2	86	2	THAP3	1	6688564	Missense_Mutation	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	2882018	6688564	242562057	6	13136											
TMEM201	199953	broad.mit.edu	37	chr1	9662288	9662288	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tggcttcacggcggctgtggCcacaaggaaggcaacgggcc	8	5	16	12	3	1	0	1	0	0	0	1	1	1	1	2	7	1	3	2	7	3	1			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr1:9662288C>T	ENST00000340381.6	+	6	1127	c.1118C>T	c.(1117-1119)gCc>gTc	p.A373V	TMEM201_ENST00000377376.4_Missense_Mutation_p.A373V|TMEM201_ENST00000340305.5_Missense_Mutation_p.A373V	NM_001130924.2	NP_001124396.2	Q5SNT2	TM201_HUMAN	transmembrane protein 201	373					fibroblast migration (GO:0010761)|nuclear migration (GO:0007097)	integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965)				lung(3)|upper_aerodigestive_tract(1)	4	all_lung(157;0.222)	all_epithelial(116;2.09e-14)|Renal(390;0.000469)|all_lung(118;0.000521)|Lung NSC(185;0.000744)|Colorectal(325;0.0062)|Breast(348;0.0157)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.5e-08)|COAD - Colon adenocarcinoma(227;1.36e-05)|Kidney(185;0.000249)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|BRCA - Breast invasive adenocarcinoma(304;0.00185)|STAD - Stomach adenocarcinoma(132;0.00345)|READ - Rectum adenocarcinoma(331;0.0419)		GCGGCTGTGGCCACAAGGAAG	0.647																																						ENST00000340305.5																			0				lung(3)|upper_aerodigestive_tract(1)	4						c.(1117-1119)gCc>gTc		transmembrane protein 201							30	27	28					1																	9662288		2203	4300	6503	SO:0001583	missense	199953					integral to membrane|nuclear inner membrane		g.chr1:9662288C>T		CCDS30579.1, CCDS44055.1, CCDS44055.2	1p36.22	2009-11-06			ENSG00000188807	ENSG00000188807			33719	protein-coding gene	gene with protein product							Standard	NM_001130924		Approved	RP13-15M17.2, NET5	uc021ofy.1	Q5SNT2	OTTHUMG00000057457	ENST00000340381.6:c.1118C>T	1.37:g.9662288C>T	ENSP00000344503:p.Ala373Val					TMEM201_ENST00000340381.6_Missense_Mutation_p.A373V|TMEM201_ENST00000377376.4_Missense_Mutation_p.A373V	p.A373V	NM_001010866.3	NP_001010866.1	Q5SNT2	TM201_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.5e-08)|COAD - Colon adenocarcinoma(227;1.36e-05)|Kidney(185;0.000249)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|BRCA - Breast invasive adenocarcinoma(304;0.00185)|STAD - Stomach adenocarcinoma(132;0.00345)|READ - Rectum adenocarcinoma(331;0.0419)	6	1127	+	all_lung(157;0.222)	all_epithelial(116;2.09e-14)|Renal(390;0.000469)|all_lung(118;0.000521)|Lung NSC(185;0.000744)|Colorectal(325;0.0062)|Breast(348;0.0157)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)	373					B9EH90|Q5SNT3	Missense_Mutation	SNP	ENST00000340381.6	37	c.1118C>T	CCDS44055.2	.	.	.	.	.	.	.	.	.	.	c	26.2	4.712240	0.89112	.	.	ENSG00000188807	ENST00000377376;ENST00000340305;ENST00000340381	.	.	.	4.75	3.82	0.43975	.	0.140114	0.47455	D	0.000224	T	0.62429	0.2427	L	0.36672	1.1	0.49389	D	0.999784	D;P	0.64830	0.994;0.802	P;P	0.62491	0.903;0.542	T	0.62567	-0.6827	9	0.51188	T	0.08	-9.7485	11.7745	0.51977	0.1758:0.8242:0.0:0.0	.	373;373	E9PBR6;Q5SNT2-2	.;.	V	373	.	ENSP00000344772:A373V	A	+	2	0	TMEM201	9584875	1.000000	0.71417	0.998000	0.56505	0.896000	0.52359	5.173000	0.65010	0.990000	0.38787	0.457000	0.33378	GCC		0.647	TMEM201-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127672.1	NM_001010866		5	34	0	0	0	1	0	5	34					T	9662288	C	T	9662288	3	4	286	1	0	0	0	0	1	0	0	0	16123	739	26	3	1140	3	TMEM201	1	9662288	Missense_Mutation	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	2973724	9662288	239588333	7	13137											
AADACL4	343066	broad.mit.edu	37	chr1	12704657	12704657	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttgagcacttcctcaccaCggatatccctgctaccttgc	7	12	6	16	1	1	1	1	1	0	0	3	2	3	2	4	1	4	2	4	1	2	5	rs201202045	byFrequency	TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr1:12704657C>T	ENST00000376221.1	+	1	92	c.92C>T	c.(91-93)aCg>aTg	p.T31M		NM_001013630.1	NP_001013652.1	Q5VUY2	ADCL4_HUMAN	arylacetamide deacetylase-like 4	31						integral component of membrane (GO:0016021)	carboxylic ester hydrolase activity (GO:0052689)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)	17	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.000937)|all_lung(284;0.00122)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.81e-07)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0384)		TTCCTCACCACGGATATCCCT	0.527													C|||	2	0.000399361	0	0	5008	,	,		21458	0		0	False		,,,				2504	0.002					ENST00000376221.1																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)	17						c.(91-93)aCg>aTg		arylacetamide deacetylase-like 4		C	MET/THR	1,4405	2.1+/-5.4	0,1,2202	217	189	198		92	-0.2	0	1		198	1,8599	1.2+/-3.3	0,1,4299	no	missense	AADACL4	NM_001013630.1	81	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	benign	31/408	12704657	2,13004	2203	4300	6503	SO:0001583	missense	343066					integral to membrane	carboxylesterase activity	g.chr1:12704657C>T		CCDS30590.1	1p36.21	2010-12-14			ENSG00000204518	ENSG00000204518			32038	protein-coding gene	gene with protein product							Standard	XM_006710608		Approved	OTTHUMG00000001889	uc001auf.3	Q5VUY2	OTTHUMG00000001889	ENST00000376221.1:c.92C>T	1.37:g.12704657C>T	ENSP00000365395:p.Thr31Met						p.T31M	NM_001013630.1	NP_001013652.1	Q5VUY2	ADCL4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.81e-07)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0384)	1	92	+	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.000937)|all_lung(284;0.00122)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)	31						Missense_Mutation	SNP	ENST00000376221.1	37	c.92C>T	CCDS30590.1	.	.	.	.	.	.	.	.	.	.	C	8.471	0.857624	0.17178	2.27E-4	1.16E-4	ENSG00000204518	ENST00000376221	T	0.04654	3.58	3.99	-0.172	0.13327	.	1.163430	0.06415	N	0.721340	T	0.03651	0.0104	N	0.19112	0.55	0.09310	N	1	P	0.35745	0.518	B	0.33121	0.158	T	0.45673	-0.9245	10	0.44086	T	0.13	0.0177	6.9872	0.24735	0.0:0.5975:0.0:0.4025	.	31	Q5VUY2	ADCL4_HUMAN	M	31	ENSP00000365395:T31M	ENSP00000365395:T31M	T	+	2	0	AADACL4	12627244	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.375000	0.20518	-0.122000	0.11766	0.561000	0.74099	ACG		0.527	AADACL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005328.1	NM_001013630		19	107	0	0	0	1	0	19	107					T	12704657	C	T	12704657	3	4	286	1	0	0	0	0	1	0	0	0	13	536	19	1	94	1	AADACL4	1	12704657	Missense_Mutation	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	3042369	12704657	236545964	8	13138											
ZBTB17	7709	broad.mit.edu	37	chr1	16270144	16270144	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cgccggggtctgcaaactgtCgctggcagtggatgcacacg	7	7	15	12	4	1	0	0	0	1	0	2	1	1	1	1	4	3	4	1	4	1	0			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr1:16270144C>T	ENST00000375743.4	-	11	1758	c.1526G>A	c.(1525-1527)cGa>cAa	p.R509Q	ZBTB17_ENST00000479282.1_5'Flank|ZBTB17_ENST00000375733.2_Missense_Mutation_p.R509Q|ZBTB17_ENST00000537142.1_Missense_Mutation_p.R427Q	NM_003443.2	NP_003434.2	Q13105	ZBT17_HUMAN	zinc finger and BTB domain containing 17	509					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|ectoderm development (GO:0007398)|endoplasmic reticulum unfolded protein response (GO:0030968)|gastrulation with mouth forming second (GO:0001702)|negative regulation of cell cycle (GO:0045786)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(4)|large_intestine(1)|lung(4)|ovary(2)|prostate(2)	15		Colorectal(325;0.000257)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|Colorectal(212;4.12e-07)|COAD - Colon adenocarcinoma(227;2.43e-05)|BRCA - Breast invasive adenocarcinoma(304;9.97e-05)|Kidney(64;0.000182)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0649)		TGCAAACTGTCGCTGGCAGTG	0.672																																						ENST00000375733.2																			0				breast(2)|endometrium(4)|large_intestine(1)|lung(4)|ovary(2)|prostate(2)	15						c.(1525-1527)cGa>cAa		zinc finger and BTB domain containing 17							59	56	57					1																	16270144		2203	4300	6503	SO:0001583	missense	7709				negative regulation of cell cycle	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr1:16270144C>T	U20647	CCDS165.1, CCDS55576.1, CCDS72712.1	1p36.13	2013-01-08	2004-07-16	2004-07-16	ENSG00000116809	ENSG00000116809		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	12936	protein-coding gene	gene with protein product		604084	"zinc finger protein 151 (pHZ-67)", "zinc finger protein 60"	ZNF151, ZNF60			Standard	NM_003443		Approved	MIZ1, pHZ-67	uc001axl.4	Q13105	OTTHUMG00000009377	ENST00000375743.4:c.1526G>A	1.37:g.16270144C>T	ENSP00000364895:p.Arg509Gln					ZBTB17_ENST00000537142.1_Missense_Mutation_p.R427Q|ZBTB17_ENST00000375743.4_Missense_Mutation_p.R509Q	p.R509Q			Q13105	ZBT17_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|Colorectal(212;4.12e-07)|COAD - Colon adenocarcinoma(227;2.43e-05)|BRCA - Breast invasive adenocarcinoma(304;9.97e-05)|Kidney(64;0.000182)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0649)	11	1764	-		Colorectal(325;0.000257)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)	509					A0AV07|B4DXB4|B7ZLQ9|F5H411|Q15932|Q5JYB2|Q9NUC9	Missense_Mutation	SNP	ENST00000375743.4	37	c.1526G>A	CCDS165.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.68|16.68	3.191345|3.191345	0.58017|0.58017	.|.	.|.	ENSG00000116809|ENSG00000116809	ENST00000444358|ENST00000375743;ENST00000375733;ENST00000444654;ENST00000537142;ENST00000375729	.|T;T;T	.|0.07567	.|3.18;3.18;3.18	5.01|5.01	4.1|4.1	0.47936|0.47936	.|Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.|0.068130	.|0.56097	.|D	.|0.000034	T|T	0.14960|0.14960	0.0361|0.0361	L|L	0.42008|0.42008	1.315|1.315	0.80722|0.80722	D|D	1|1	.|B;D;B	.|0.71674	.|0.331;0.998;0.382	.|B;P;B	.|0.56563	.|0.023;0.801;0.04	T|T	0.00849|0.00849	-1.1541|-1.1541	5|10	.|0.62326	.|D	.|0.03	.|.	10.0362|10.0362	0.42131|0.42131	0.0:0.8443:0.0:0.1557|0.0:0.8443:0.0:0.1557	.|.	.|509;427;509	.|Q13105-2;F5H411;Q13105	.|.;.;ZBT17_HUMAN	N|Q	66|509;509;428;427;65	.|ENSP00000364895:R509Q;ENSP00000364885:R509Q;ENSP00000438529:R427Q	.|ENSP00000364881:R65Q	D|R	-|-	1|2	0|0	ZBTB17|ZBTB17	16142731|16142731	0.881000|0.881000	0.30235|0.30235	0.996000|0.996000	0.52242|0.52242	0.002000|0.002000	0.02628|0.02628	1.706000|1.706000	0.37878|0.37878	1.241000|1.241000	0.43820|0.43820	0.563000|0.563000	0.77884|0.77884	GAC|CGA		0.672	ZBTB17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025998.1	NM_003443		11	46	0	0	0	1	0	11	46					T	16270144	C	T	16270144	3	4	286	1	0	0	0	0	1	0	0	0	17524	884	31	2	909	2	ZBTB17	1	16270144	Missense_Mutation	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	3565487	16270144	232980477	9	13139											
CLCNKB	1188	broad.mit.edu	37	chr1	16378897	16378897	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cctgccacggattctgggccGcaacatcgggtgagtggtgc	6	8	15	12	3	1	1	0	1	1	0	2	2	1	2	3	4	3	1	3	4	1	1	rs192283350	byFrequency	TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr1:16378897G>A	ENST00000375679.4	+	15	1724	c.1613G>A	c.(1612-1614)cGc>cAc	p.R538H	CLCNKB_ENST00000375667.3_Missense_Mutation_p.R369H	NM_000085.4	NP_000076.2	P51801	CLCKB_HUMAN	chloride channel, voltage-sensitive Kb	538					excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|regulation of anion transport (GO:0044070)|transmembrane transport (GO:0055085)|transport (GO:0006810)	chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	adenyl nucleotide binding (GO:0030554)|metal ion binding (GO:0046872)|voltage-gated chloride channel activity (GO:0005247)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|skin(6)|stomach(2)|urinary_tract(1)	21		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)		ATTCTGGGCCGCAACATCGGG	0.597													G|||	2	0.000399361	0	0.0014	5008	,	,		21908	0.001		0	False		,,,				2504	0					ENST00000375679.4																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|skin(6)|stomach(2)|urinary_tract(1)	21	GRCh37	CM082571	CLCNKB	M	rs192283350	c.(1612-1614)cGc>cAc		chloride channel, voltage-sensitive Kb							35	37	36					1																	16378897		2203	4296	6499	SO:0001583	missense	1188							g.chr1:16378897G>A	AK098217	CCDS168.1, CCDS57974.1	1p36	2012-09-26	2012-02-23		ENSG00000184908	ENSG00000184908		"Ion channels / Chloride channels : Voltage-sensitive"	2027	protein-coding gene	gene with protein product		602023	"chloride channel Kb"				Standard	NM_000085		Approved	hClC-Kb		P51801	OTTHUMG00000009530	ENST00000375679.4:c.1613G>A	1.37:g.16378897G>A	ENSP00000364831:p.Arg538His					CLCNKB_ENST00000375667.3_Missense_Mutation_p.R369H	p.R538H	NM_000085.4	NP_000076.2				UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)	15	1724	+		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)						B3KUY3|Q5T5Q7|Q5T5Q8	Missense_Mutation	SNP	ENST00000375679.4	37	c.1613G>A	CCDS168.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	g	14.96	2.691595	0.48097	.	.	ENSG00000184908	ENST00000375668;ENST00000375679;ENST00000331579;ENST00000375667;ENST00000431772	D;D;T	0.86164	-1.86;-2.08;-0.15	4.04	4.04	0.47022	.	0.305199	0.31210	N	0.008051	D	0.90906	0.7142	M	0.68317	2.08	0.24442	N	0.994529	D;D	0.65815	0.995;0.995	P;P	0.59487	0.858;0.858	D	0.84920	0.0853	10	0.54805	T	0.06	.	14.9512	0.71077	0.0:0.0:1.0:0.0	.	369;538	Q5T5Q7;P51801	.;CLCKB_HUMAN	H	36;538;410;369;27	ENSP00000364831:R538H;ENSP00000364819:R369H;ENSP00000389344:R27H	ENSP00000332055:R410H	R	+	2	0	CLCNKB	16251484	1.000000	0.71417	0.159000	0.22649	0.017000	0.09413	8.759000	0.91667	2.089000	0.63090	0.555000	0.69702	CGC		0.597	CLCNKB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026331.1	NM_000085		8	46	0	0	0	1	0	8	46					A	16378897	G	A	16378897	3	1	286	1	0	0	0	0	1	0	0	0	3470	1087	38	1	1815	1	CLCNKB	1	16378897	Missense_Mutation	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	108753	16378897	232871724	10	13140											
ARHGEF19	128272	broad.mit.edu	37	chr1	16532526	16532526	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtccagcaccacgtcgcacaCgctgaagcgcagcacatctg	10	5	10	16	4	1	1	0	1	1	0	3	1	2	1	2	0	3	5	2	0	1	0			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr1:16532526C>T	ENST00000270747.3	-	8	1487	c.1351G>A	c.(1351-1353)Gtg>Atg	p.V451M	ARHGEF19_ENST00000478117.1_5'UTR	NM_153213.3	NP_694945.2	Q8IW93	ARHGJ_HUMAN	Rho guanine nucleotide exchange factor (GEF) 19	451	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				regulation of actin cytoskeleton organization (GO:0032956)|wound healing (GO:0042060)		GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			cervix(1)|endometrium(1)|lung(3)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	12		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|Colorectal(212;3.48e-07)|COAD - Colon adenocarcinoma(227;2.19e-05)|BRCA - Breast invasive adenocarcinoma(304;9.46e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.0117)|READ - Rectum adenocarcinoma(331;0.0649)		ACGTCGCACACGCTGAAGCGC	0.647																																						ENST00000270747.3																			0				cervix(1)|endometrium(1)|lung(3)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	12						c.(1351-1353)Gtg>Atg		Rho guanine nucleotide exchange factor (GEF) 19							40	37	38					1																	16532526		2202	4299	6501	SO:0001583	missense	128272				regulation of actin cytoskeleton organization	intracellular	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	g.chr1:16532526C>T	BC012982	CCDS170.1	1p36.13	2011-11-16			ENSG00000142632	ENSG00000142632		"Rho guanine nucleotide exchange factors"	26604	protein-coding gene	gene with protein product		612496				12477932	Standard	NM_153213		Approved	FLJ33962, WGEF	uc001ayc.1	Q8IW93	OTTHUMG00000002219	ENST00000270747.3:c.1351G>A	1.37:g.16532526C>T	ENSP00000270747:p.Val451Met					ARHGEF19_ENST00000421561.1_Missense_Mutation_p.V451M|ARHGEF19_ENST00000478117.1_5'UTR	p.V451M	NM_153213.3	NP_694945.2	Q8IW93	ARHGJ_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|Colorectal(212;3.48e-07)|COAD - Colon adenocarcinoma(227;2.19e-05)|BRCA - Breast invasive adenocarcinoma(304;9.46e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.0117)|READ - Rectum adenocarcinoma(331;0.0649)	8	1487	-		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)	451			DH.		A6NJ04|Q5TEV2|Q6PJQ4|Q8N244	Missense_Mutation	SNP	ENST00000270747.3	37	c.1351G>A	CCDS170.1	.	.	.	.	.	.	.	.	.	.	C	24.9	4.581997	0.86748	.	.	ENSG00000142632	ENST00000270747;ENST00000421561;ENST00000375607;ENST00000441785	T;T;T	0.66995	-0.24;-0.24;-0.24	4.66	4.66	0.58398	Dbl homology (DH) domain (5);	0.000000	0.64402	D	0.000011	D	0.84479	0.5481	M	0.89601	3.045	0.49582	D	0.999804	D	0.89917	1.0	D	0.97110	1.0	D	0.88171	0.2864	10	0.87932	D	0	.	15.048	0.71841	0.0:1.0:0.0:0.0	.	451	Q8IW93	ARHGJ_HUMAN	M	451;451;451;134	ENSP00000270747:V451M;ENSP00000396001:V451M;ENSP00000414370:V134M	ENSP00000270747:V451M	V	-	1	0	ARHGEF19	16405113	0.999000	0.42202	0.999000	0.59377	0.903000	0.53119	3.956000	0.56722	2.129000	0.65627	0.561000	0.74099	GTG		0.647	ARHGEF19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006289.1	NM_153213		4	3	0	0	0	1	0	4	3					T	16532526	C	T	16532526	3	4	286	1	0	0	0	0	1	0	0	0	902	536	19	1	1093	1	ARHGEF19	1	16532526	Missense_Mutation	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	153629	16532526	232718095	11	13141											
ARHGEF19	128272	broad.mit.edu	37	chr1	16534702	16534702	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cggggacctcttcacgctggTacacccgcatcttgcgccct	5	9	10	17	4	3	0	1	0	2	0	3	1	3	1	3	3	2	3	3	3	1	3			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr1:16534702T>C	ENST00000270747.3	-	3	567	c.431A>G	c.(430-432)tAc>tGc	p.Y144C	ARHGEF19_ENST00000478117.1_5'Flank	NM_153213.3	NP_694945.2	Q8IW93	ARHGJ_HUMAN	Rho guanine nucleotide exchange factor (GEF) 19	144					regulation of actin cytoskeleton organization (GO:0032956)|wound healing (GO:0042060)		GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			cervix(1)|endometrium(1)|lung(3)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	12		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|Colorectal(212;3.48e-07)|COAD - Colon adenocarcinoma(227;2.19e-05)|BRCA - Breast invasive adenocarcinoma(304;9.46e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.0117)|READ - Rectum adenocarcinoma(331;0.0649)		TTCACGCTGGTACACCCGCAT	0.682																																						ENST00000270747.3																			0				cervix(1)|endometrium(1)|lung(3)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	12						c.(430-432)tAc>tGc		Rho guanine nucleotide exchange factor (GEF) 19							40	44	43					1																	16534702		2203	4300	6503	SO:0001583	missense	128272				regulation of actin cytoskeleton organization	intracellular	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	g.chr1:16534702T>C	BC012982	CCDS170.1	1p36.13	2011-11-16			ENSG00000142632	ENSG00000142632		"Rho guanine nucleotide exchange factors"	26604	protein-coding gene	gene with protein product		612496				12477932	Standard	NM_153213		Approved	FLJ33962, WGEF	uc001ayc.1	Q8IW93	OTTHUMG00000002219	ENST00000270747.3:c.431A>G	1.37:g.16534702T>C	ENSP00000270747:p.Tyr144Cys					ARHGEF19_ENST00000421561.1_Missense_Mutation_p.Y144C	p.Y144C	NM_153213.3	NP_694945.2	Q8IW93	ARHGJ_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|Colorectal(212;3.48e-07)|COAD - Colon adenocarcinoma(227;2.19e-05)|BRCA - Breast invasive adenocarcinoma(304;9.46e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.0117)|READ - Rectum adenocarcinoma(331;0.0649)	3	567	-		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)	144					A6NJ04|Q5TEV2|Q6PJQ4|Q8N244	Missense_Mutation	SNP	ENST00000270747.3	37	c.431A>G	CCDS170.1	.	.	.	.	.	.	.	.	.	.	T	21.2	4.120883	0.77436	.	.	ENSG00000142632	ENST00000270747;ENST00000421561;ENST00000375607	T;T	0.62639	0.01;0.01	5.21	5.21	0.72293	.	0.098018	0.41938	D	0.000790	T	0.68421	0.2999	L	0.34521	1.04	0.37572	D	0.919463	D	0.89917	1.0	D	0.87578	0.998	T	0.72609	-0.4241	10	0.48119	T	0.1	.	11.7477	0.51830	0.0:0.0:0.0:1.0	.	144	Q8IW93	ARHGJ_HUMAN	C	144	ENSP00000270747:Y144C;ENSP00000396001:Y144C	ENSP00000270747:Y144C	Y	-	2	0	ARHGEF19	16407289	0.999000	0.42202	1.000000	0.80357	0.891000	0.51852	4.582000	0.60957	2.091000	0.63221	0.459000	0.35465	TAC		0.682	ARHGEF19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006289.1	NM_153213		6	36	0	0	0	1	0	6	36					C	16534702	T	C	16534702	3	2	286	1	0	0	0	0	1	0	0	0	902	1638	57	4	2033	4	ARHGEF19	1	16534702	Missense_Mutation	SNP	T	TCGA-J9-A52C-01A-11D-A26M-08	2176	16534702	232715919	12	13142											
PADI2	11240	broad.mit.edu	37	chr1	17418973	17418973	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agaactatctcgtatccggcGgggaggcggtcggggccttt	6	9	16	10	5	1	1	0	0	1	1	4	2	2	2	2	7	1	1	2	7	3	3			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr1:17418973G>A	ENST00000375486.4	-	6	648	c.585C>T	c.(583-585)ccC>ccT	p.P195P	PADI2_ENST00000444885.2_Intron|PADI2_ENST00000375481.1_Silent_p.P195P	NM_007365.2	NP_031391.2	Q9Y2J8	PADI2_HUMAN	peptidyl arginine deiminase, type II	195					chromatin-mediated maintenance of transcription (GO:0048096)|histone H3-R26 citrullination (GO:0036413)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of lymphocyte chemotaxis (GO:1901624)|protein citrullination (GO:0018101)|regulation of chromatin disassembly (GO:0010848)|substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|transcriptionally active chromatin (GO:0035327)	calcium ion binding (GO:0005509)|estrogen receptor binding (GO:0030331)|protein-arginine deiminase activity (GO:0004668)	p.P195Q(1)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(12)|ovary(4)|pancreas(1)|skin(5)|urinary_tract(3)	29		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000422)|Renal(390;0.000518)|all_lung(284;0.000546)|Ovarian(437;0.00671)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;1.49e-05)|COAD - Colon adenocarcinoma(227;1.54e-05)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201)	L-Citrulline(DB00155)	CGTATCCGGCGGGGAGGCGGT	0.537																																						ENST00000375486.4																			1	Substitution - Missense(1)	p.P195Q(1)	lung(1)	breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(12)|ovary(4)|pancreas(1)|skin(5)|urinary_tract(3)	29						c.(583-585)ccC>ccT		peptidyl arginine deiminase, type II	L-Citrulline(DB00155)						92	83	86					1																	17418973		2203	4300	6503	SO:0001819	synonymous_variant	11240				peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity	g.chr1:17418973G>A	AB030176	CCDS177.1	1p35.2-p35.1	2008-02-05			ENSG00000117115	ENSG00000117115	3.5.3.15	"Peptidyl arginine deiminases"	18341	protein-coding gene	gene with protein product		607935				2768262	Standard	NM_007365		Approved	KIAA0994, PDI2	uc001baf.3	Q9Y2J8	OTTHUMG00000002295	ENST00000375486.4:c.585C>T	1.37:g.17418973G>A						PADI2_ENST00000375481.1_Silent_p.P195P|PADI2_ENST00000444885.2_Intron	p.P195P	NM_007365.2	NP_031391.2	Q9Y2J8	PADI2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;1.49e-05)|COAD - Colon adenocarcinoma(227;1.54e-05)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201)	6	648	-		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000422)|Renal(390;0.000518)|all_lung(284;0.000546)|Ovarian(437;0.00671)|Myeloproliferative disorder(586;0.0255)	195					Q96DA7|Q9UPN2	Silent	SNP	ENST00000375486.4	37	c.585C>T	CCDS177.1																																																																																				0.537	PADI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006624.1			9	44	0	0	0	1	0	9	44					A	17418973	G	A	17418973	2	1	286	1	0	0	0	0	0	0	0	1	11378	1103	39	2		2	PADI2	1	17418973	Silent	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	884271	17418973	231831648	13	13143											
KLHDC7A	127707	broad.mit.edu	37	chr1	18809307	18809307	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttacgacccccgcctggaccGctgggactttgccccgccgc	4	7	11	19	5	0	0	0	0	0	0	0	3	0	2	7	2	2	1	7	2	1	2			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr1:18809307G>T	ENST00000400664.1	+	1	1884	c.1832G>T	c.(1831-1833)cGc>cTc	p.R611L		NM_152375.2	NP_689588.2	Q5VTJ3	KLD7A_HUMAN	kelch domain containing 7A	611						integral component of membrane (GO:0016021)				endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	22		Colorectal(325;3.46e-05)|all_lung(284;0.000152)|Lung NSC(340;0.000185)|Breast(348;0.00046)|Renal(390;0.000518)|Ovarian(437;0.0014)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.41e-05)|Kidney(64;0.00017)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		CGCCTGGACCGCTGGGACTTT	0.706																																						ENST00000400664.1																			0				endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	22						c.(1831-1833)cGc>cTc		kelch domain containing 7A							23	24	24					1																	18809307		2202	4295	6497	SO:0001583	missense	127707					integral to membrane		g.chr1:18809307G>T	AK096072	CCDS185.2	1p36.13	2008-02-05			ENSG00000179023	ENSG00000179023			26791	protein-coding gene	gene with protein product							Standard	NM_152375		Approved	FLJ38753	uc001bax.3	Q5VTJ3	OTTHUMG00000002431	ENST00000400664.1:c.1832G>T	1.37:g.18809307G>T	ENSP00000383505:p.Arg611Leu						p.R611L	NM_152375.2	NP_689588.2	Q5VTJ3	KLD7A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.41e-05)|Kidney(64;0.00017)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	1	1884	+		Colorectal(325;3.46e-05)|all_lung(284;0.000152)|Lung NSC(340;0.000185)|Breast(348;0.00046)|Renal(390;0.000518)|Ovarian(437;0.0014)|Myeloproliferative disorder(586;0.0255)	611					Q8N8W6	Missense_Mutation	SNP	ENST00000400664.1	37	c.1832G>T	CCDS185.2	.	.	.	.	.	.	.	.	.	.	G	20.6	4.013987	0.75161	.	.	ENSG00000179023	ENST00000400664;ENST00000540290	T	0.78003	-1.14	5.2	3.32	0.38043	Kelch-type beta propeller (1);	0.065733	0.56097	D	0.000029	T	0.73923	0.3649	L	0.31526	0.94	0.35371	D	0.789094	P;P	0.43477	0.808;0.596	P;P	0.51516	0.672;0.539	T	0.78705	-0.2100	10	0.87932	D	0	.	8.8723	0.35323	0.079:0.0:0.7718:0.1492	.	548;611	A7E2V3;Q5VTJ3	.;KLD7A_HUMAN	L	611;548	ENSP00000383505:R611L	ENSP00000383505:R611L	R	+	2	0	KLHDC7A	18681894	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	4.036000	0.57304	0.577000	0.29470	0.561000	0.74099	CGC		0.706	KLHDC7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006923.3	NM_152375		3	27	1	0	1	1	1	3	27					T	18809307	G	T	18809307	3	4	286	1	0	0	0	0	1	0	0	0	8360	1087	38	5	1834	5	KLHDC7A	1	18809307	Missense_Mutation	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	1390334	18809307	230441314	14	13144											
HTR6	3362	broad.mit.edu	37	chr1	20005830	20005830	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccccgcggagcccgagctgcGgccgcatccacttggcatcc	5	5	12	19	5	0	0	0	0	0	0	2	2	2	1	6	3	3	3	6	3	0	1	rs376637765		TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr1:20005830G>A	ENST00000289753.1	+	3	1759	c.1292G>A	c.(1291-1293)cGg>cAg	p.R431Q	TMCO4_ENST00000489814.1_5'Flank	NM_000871.1	NP_000862.1	P50406	5HT6R_HUMAN	5-hydroxytryptamine (serotonin) receptor 6, G protein-coupled	431					brain development (GO:0007420)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|learning (GO:0007612)|long-term synaptic potentiation (GO:0060291)|negative regulation of acetylcholine secretion, neurotransmission (GO:0014058)|negative regulation of gamma-aminobutyric acid secretion (GO:0014053)|negative regulation of glutamate secretion (GO:0014050)|positive regulation of dopamine secretion (GO:0033603)|positive regulation of gamma-aminobutyric acid secretion (GO:0014054)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|synaptic transmission (GO:0007268)	cilium (GO:0005929)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	histamine receptor activity (GO:0004969)|serotonin receptor activity (GO:0004993)			endometrium(1)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00519)|Breast(348;0.00526)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;5.81e-05)|Kidney(64;0.00017)|GBM - Glioblastoma multiforme(114;0.00117)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182)	Amitriptyline(DB00321)|Amoxapine(DB00543)|Aripiprazole(DB01238)|Asenapine(DB06216)|Chlorpromazine(DB00477)|Clozapine(DB00363)|Doxepin(DB01142)|Ergoloid mesylate(DB01049)|Iloperidone(DB04946)|Imipramine(DB00458)|Loxapine(DB00408)|Mianserin(DB06148)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Quetiapine(DB01224)|Sertindole(DB06144)|Ziprasidone(DB00246)	CCCGAGCTGCGGCCGCATCCA	0.682																																					Esophageal Squamous(168;1879 2619 6848 21062)	ENST00000289753.1																			0				endometrium(1)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13						c.(1291-1293)cGg>cAg		5-hydroxytryptamine (serotonin) receptor 6, G protein-coupled	Granisetron(DB00889)|Ondansetron(DB00904)|Sertindole(DB06144)	G	GLN/ARG	0,3732		0,0,1866	9	10	9		1292	2.3	1	1		9	1,7487		0,1,3743	no	missense	HTR6	NM_000871.1	43	0,1,5609	AA,AG,GG		0.0134,0.0,0.0089	benign	431/441	20005830	1,11219	1866	3744	5610	SO:0001583	missense	3362				G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	histamine receptor activity|protein binding	g.chr1:20005830G>A	L41147	CCDS197.1	1p36-p35	2012-08-08	2012-02-03		ENSG00000158748	ENSG00000158748		"5-HT (serotonin) receptors", "GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"	5301	protein-coding gene	gene with protein product		601109	"5-hydroxytryptamine (serotonin) receptor 6"			8522988	Standard	NM_000871		Approved	5-HT6, 5-HT6R	uc001bcl.3	P50406	OTTHUMG00000002713	ENST00000289753.1:c.1292G>A	1.37:g.20005830G>A	ENSP00000289753:p.Arg431Gln						p.R431Q	NM_000871.1	NP_000862.1	P50406	5HT6R_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;5.81e-05)|Kidney(64;0.00017)|GBM - Glioblastoma multiforme(114;0.00117)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182)	3	1759	+		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00519)|Breast(348;0.00526)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)	431					Q13640|Q5TGZ1	Missense_Mutation	SNP	ENST00000289753.1	37	c.1292G>A	CCDS197.1	.	.	.	.	.	.	.	.	.	.	G	7.246	0.602182	0.13939	0.0	1.34E-4	ENSG00000158748	ENST00000289753	T	0.53857	0.6	5.39	2.34	0.29019	.	0.833410	0.09901	N	0.741119	T	0.26919	0.0659	N	0.04508	-0.205	0.20638	N	0.999876	B	0.20052	0.041	B	0.08055	0.003	T	0.19289	-1.0310	9	.	.	.	.	7.7979	0.29158	0.4067:0.0:0.5933:0.0	.	431	P50406	5HT6R_HUMAN	Q	431	ENSP00000289753:R431Q	.	R	+	2	0	HTR6	19878417	0.999000	0.42202	0.989000	0.46669	0.155000	0.21991	0.970000	0.29383	0.711000	0.32018	0.561000	0.74099	CGG		0.682	HTR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007704.1	NM_000871		3	12	0	0	0	1	0	3	12					A	20005830	G	A	20005830	3	1	286	1	0	0	0	0	1	0	0	0	7451	1116	39	2	1302	2	HTR6	1	20005830	Missense_Mutation	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	1196523	20005830	229244791	15	13145											
TMCO4	255104	broad.mit.edu	37	chr1	20021006	20021006	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cggcgacacggagctgcaccGaggatgtgcggtacacgaaa	11	4	15	11	6	0	0	0	0	0	0	0	5	0	2	1	4	4	3	1	4	2	1	rs367840733		TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr1:20021006G>A	ENST00000294543.6	-	15	1662	c.1421C>T	c.(1420-1422)tCg>tTg	p.S474L	TMCO4_ENST00000489814.1_5'UTR|TMCO4_ENST00000375127.1_Missense_Mutation_p.S474L|TMCO4_ENST00000375122.2_Missense_Mutation_p.S434L	NM_181719.4	NP_859070.3	Q5TGY1	TMCO4_HUMAN	transmembrane and coiled-coil domains 4	474						integral component of membrane (GO:0016021)				biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|lung(11)|skin(1)|upper_aerodigestive_tract(1)	19		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00519)|Breast(348;0.00526)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00708)|COAD - Colon adenocarcinoma(152;2.28e-05)|BRCA - Breast invasive adenocarcinoma(304;5.8e-05)|Kidney(64;0.000367)|GBM - Glioblastoma multiforme(114;0.000377)|KIRC - Kidney renal clear cell carcinoma(64;0.00459)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0862)|Lung(427;0.223)		GAGCTGCACCGAGGATGTGCG	0.617																																						ENST00000294543.6																			0				biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|lung(11)|skin(1)|upper_aerodigestive_tract(1)	19						c.(1420-1422)tCg>tTg		transmembrane and coiled-coil domains 4		G	LEU/SER	0,4406		0,0,2203	123	105	111		1421	3.8	0	1		111	1,8599	1.2+/-3.3	0,1,4299	no	missense	TMCO4	NM_181719.4	145	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging	474/635	20021006	1,13005	2203	4300	6503	SO:0001583	missense	255104					integral to membrane		g.chr1:20021006G>A		CCDS198.1	1p36.13	2008-02-05			ENSG00000162542	ENSG00000162542			27393	protein-coding gene	gene with protein product							Standard	NM_181719		Approved	DKFZp686C23231	uc001bcn.3	Q5TGY1	OTTHUMG00000002697	ENST00000294543.6:c.1421C>T	1.37:g.20021006G>A	ENSP00000294543:p.Ser474Leu					TMCO4_ENST00000489814.1_5'UTR|TMCO4_ENST00000375122.2_Missense_Mutation_p.S434L|TMCO4_ENST00000375127.1_Missense_Mutation_p.S474L	p.S474L	NM_181719.4	NP_859070.3	Q5TGY1	TMCO4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00708)|COAD - Colon adenocarcinoma(152;2.28e-05)|BRCA - Breast invasive adenocarcinoma(304;5.8e-05)|Kidney(64;0.000367)|GBM - Glioblastoma multiforme(114;0.000377)|KIRC - Kidney renal clear cell carcinoma(64;0.00459)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0862)|Lung(427;0.223)	15	1662	-		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00519)|Breast(348;0.00526)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)	474					Q5TGY2|Q6MZN5|Q7Z6K6|Q9UQP4|Q9Y3K1	Missense_Mutation	SNP	ENST00000294543.6	37	c.1421C>T	CCDS198.1	.	.	.	.	.	.	.	.	.	.	G	11.71	1.721067	0.30503	0.0	1.16E-4	ENSG00000162542	ENST00000294543;ENST00000375127;ENST00000375122	T;T;T	0.52526	0.66;0.66;0.66	4.68	3.75	0.43078	.	0.185160	0.36665	N	0.002473	T	0.46288	0.1385	M	0.64080	1.96	0.44719	D	0.997715	P;P;D	0.53619	0.799;0.598;0.961	B;B;B	0.43194	0.212;0.234;0.411	T	0.52578	-0.8557	10	0.87932	D	0	-13.5897	11.2705	0.49136	0.0924:0.0:0.9076:0.0	.	58;474;434	Q6ZSC6;Q5TGY1;Q5TGY1-2	.;TMCO4_HUMAN;.	L	474;474;434	ENSP00000294543:S474L;ENSP00000364269:S474L;ENSP00000364264:S434L	ENSP00000294543:S474L	S	-	2	0	TMCO4	19893593	1.000000	0.71417	0.033000	0.17914	0.038000	0.13279	4.135000	0.57997	1.087000	0.41251	0.561000	0.74099	TCG		0.617	TMCO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007658.1	NM_181719		30	120	0	0	0	1	0	30	120					A	20021006	G	A	20021006	3	1	286	1	0	0	0	0	1	0	0	0	15995	1059	37	2	491	2	TMCO4	1	20021006	Missense_Mutation	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	15176	20021006	229229615	16	13146											
ALPL	249	broad.mit.edu	37	chr1	21903985	21903985	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atggcgcacctgctgcacggCgtccacgagcagaactacgt	9	6	12	14	5	0	1	0	0	0	1	1	2	1	1	2	2	5	4	2	2	2	1	rs373417343		TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr1:21903985C>T	ENST00000374840.3	+	12	1669	c.1419C>T	c.(1417-1419)ggC>ggT	p.G473G	ALPL_ENST00000539907.1_Silent_p.G396G|ALPL_ENST00000374830.1_Silent_p.G119G|ALPL_ENST00000425315.2_Silent_p.G473G|ALPL_ENST00000374832.1_Silent_p.G473G|ALPL_ENST00000374829.1_Silent_p.G119G|ALPL_ENST00000540617.1_Silent_p.G418G	NM_000478.4	NP_000469.3	P05186	PPBT_HUMAN	alkaline phosphatase, liver/bone/kidney	473			G -> S (in HOPS). {ECO:0000269|PubMed:10332035, ECO:0000269|PubMed:9781036}.		cellular response to organic cyclic compound (GO:0071407)|cementum mineralization (GO:0071529)|developmental process involved in reproduction (GO:0003006)|endochondral ossification (GO:0001958)|osteoblast differentiation (GO:0001649)|response to antibiotic (GO:0046677)|response to glucocorticoid (GO:0051384)|response to lipopolysaccharide (GO:0032496)|response to vitamin D (GO:0033280)|skeletal system development (GO:0001501)	anchored component of membrane (GO:0031225)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	alkaline phosphatase activity (GO:0004035)|metal ion binding (GO:0046872)|pyrophosphatase activity (GO:0016462)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	26		all_lung(284;2.19e-05)|Lung NSC(340;2.22e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0192)|OV - Ovarian serous cystadenocarcinoma(117;8.7e-28)|COAD - Colon adenocarcinoma(152;1.57e-05)|GBM - Glioblastoma multiforme(114;2.66e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000177)|STAD - Stomach adenocarcinoma(196;0.00645)|KIRC - Kidney renal clear cell carcinoma(1967;0.00856)|READ - Rectum adenocarcinoma(331;0.0623)|Lung(427;0.146)	Amifostine(DB01143)|Fospropofol(DB06716)	TGCTGCACGGCGTCCACGAGC	0.687													c|||	1	0.000199681	0	0	5008	,	,		15626	0		0	False		,,,				2504	0.001					ENST00000374840.3																			0				breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	26						c.(1417-1419)ggC>ggT		alkaline phosphatase, liver/bone/kidney	Amifostine(DB01143)						52	48	49					1																	21903985		2203	4298	6501	SO:0001819	synonymous_variant	249				response to vitamin D|skeletal system development	anchored to membrane|cytoplasm|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding	g.chr1:21903985C>T	BC021289	CCDS217.1, CCDS53274.1, CCDS53275.1	1p36.12	2008-02-05			ENSG00000162551	ENSG00000162551	3.1.3.1		438	protein-coding gene	gene with protein product		171760		HOPS		3532105, 3446011	Standard	NM_001127501		Approved	TNSALP	uc001bet.3	P05186	OTTHUMG00000002949	ENST00000374840.3:c.1419C>T	1.37:g.21903985C>T						ALPL_ENST00000374832.1_Silent_p.G473G|ALPL_ENST00000540617.1_Silent_p.G418G|ALPL_ENST00000539907.1_Silent_p.G396G|ALPL_ENST00000425315.2_Silent_p.G473G|ALPL_ENST00000374829.1_Silent_p.G119G|ALPL_ENST00000374830.1_Silent_p.G119G	p.G473G	NM_000478.4	NP_000469.3	P05186	PPBT_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0192)|OV - Ovarian serous cystadenocarcinoma(117;8.7e-28)|COAD - Colon adenocarcinoma(152;1.57e-05)|GBM - Glioblastoma multiforme(114;2.66e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000177)|STAD - Stomach adenocarcinoma(196;0.00645)|KIRC - Kidney renal clear cell carcinoma(1967;0.00856)|READ - Rectum adenocarcinoma(331;0.0623)|Lung(427;0.146)	12	1669	+		all_lung(284;2.19e-05)|Lung NSC(340;2.22e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)	473		G -> S (in HOPS).			A1A4E7|B2RMP8|B7Z387|B7Z4Y6|O75090|Q2TAI7|Q59EJ7|Q5BKZ5|Q5VTG5|Q6NZI8|Q8WU32|Q9UBK0	Silent	SNP	ENST00000374840.3	37	c.1419C>T	CCDS217.1																																																																																				0.687	ALPL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000008202.1	NM_000478		10	63	0	0	0	1	0	10	63					T	21903985	C	T	21903985	2	4	286	1	0	0	0	0	0	0	0	1	547	755	27	1		1	ALPL	1	21903985	Silent	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	1882979	21903985	227346636	17	13147											
HSPG2	3339	broad.mit.edu	37	chr1	22172692	22172692	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgcccatcacccggcacacGtattcacccgagtcggccgg	7	6	10	18	5	2	0	2	0	0	0	3	1	2	0	4	3	1	2	4	3	1	2			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr1:22172692G>A	ENST00000374695.3	-	64	8452	c.8373C>T	c.(8371-8373)taC>taT	p.Y2791Y		NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	2791	Ig-like C2-type 13.				angiogenesis (GO:0001525)|brain development (GO:0007420)|carbohydrate metabolic process (GO:0005975)|cardiac muscle tissue development (GO:0048738)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|chondrocyte differentiation (GO:0002062)|chondroitin sulfate metabolic process (GO:0030204)|embryonic skeletal system morphogenesis (GO:0048704)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|lipoprotein metabolic process (GO:0042157)|phototransduction, visible light (GO:0007603)|protein localization (GO:0008104)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	basal lamina (GO:0005605)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Palifermin(DB00039)	CCCGGCACACGTATTCACCCG	0.652																																						ENST00000374695.3																			0				breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127						c.(8371-8373)taC>taT		heparan sulfate proteoglycan 2	Becaplermin(DB00102)|Palifermin(DB00039)						26	28	27					1																	22172692		2202	4300	6502	SO:0001819	synonymous_variant	3339				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding	g.chr1:22172692G>A	M85289	CCDS30625.1	1p36.1-p35	2013-01-29	2007-02-16	2007-02-16	ENSG00000142798	ENSG00000142798		"Proteoglycans / Extracellular Matrix : Other", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5273	protein-coding gene	gene with protein product	"perlecan proteoglycan"	142461	"Schwartz-Jampel syndrome 1 (chondrodystrophic myotonia)"	SJS1		1685141, 11941538	Standard	XM_005245863		Approved	perlecan, PRCAN	uc001bfj.3	P98160	OTTHUMG00000002674	ENST00000374695.3:c.8373C>T	1.37:g.22172692G>A							p.Y2791Y	NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	64	8452	-		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)	2791			Ig-like C2-type 13.		Q16287|Q5SZI3|Q9H3V5	Silent	SNP	ENST00000374695.3	37	c.8373C>T	CCDS30625.1																																																																																				0.652	HSPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007598.1	NM_005529		9	45	0	0	0	1	0	9	45					A	22172692	G	A	22172692	2	1	286	1	0	0	0	0	0	0	0	1	7430	1140	40	1		1	HSPG2	1	22172692	Silent	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	268707	22172692	227077929	18	13148											
EPHB2	2048	broad.mit.edu	37	chr1	23219480	23219480	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgtcttccaggtgcgggcacGcaccgtggcaggttacgggc	5	8	16	12	4	1	0	0	0	1	0	2	0	2	0	2	5	2	4	2	5	1	2			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr1:23219480G>A	ENST00000400191.3	+	7	1550	c.1532G>A	c.(1531-1533)cGc>cAc	p.R511H	EPHB2_ENST00000465676.1_3'UTR|EPHB2_ENST00000374627.1_Missense_Mutation_p.R506H|EPHB2_ENST00000374630.3_Missense_Mutation_p.R511H|EPHB2_ENST00000374632.3_Missense_Mutation_p.R511H	NM_004442.6|NM_017449.3	NP_004433.2|NP_059145.2	P29323	EPHB2_HUMAN	EPH receptor B2	511	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|camera-type eye morphogenesis (GO:0048593)|central nervous system projection neuron axonogenesis (GO:0021952)|commissural neuron axon guidance (GO:0071679)|corpus callosum development (GO:0022038)|dendritic spine development (GO:0060996)|dendritic spine morphogenesis (GO:0060997)|ephrin receptor signaling pathway (GO:0048013)|inner ear morphogenesis (GO:0042472)|learning (GO:0007612)|negative regulation of axonogenesis (GO:0050771)|nervous system development (GO:0007399)|optic nerve morphogenesis (GO:0021631)|palate development (GO:0060021)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|positive regulation of synapse assembly (GO:0051965)|regulation of body fluid levels (GO:0050878)|retinal ganglion cell axon guidance (GO:0031290)|urogenital system development (GO:0001655)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|protein tyrosine kinase activity (GO:0004713)|transmembrane-ephrin receptor activity (GO:0005005)			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(8)|stomach(1)|urinary_tract(1)	56		Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153)		GTGCGGGCACGCACCGTGGCA	0.602																																						ENST00000400191.3																			0				NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(8)|stomach(1)|urinary_tract(1)	56						c.(1531-1533)cGc>cAc		EPH receptor B2							68	68	68					1																	23219480		2203	4300	6503	SO:0001583	missense	2048				axon guidance	integral to plasma membrane	ATP binding|transmembrane-ephrin receptor activity	g.chr1:23219480G>A	AF025304	CCDS229.2, CCDS230.1	1p36.1-p35	2014-09-17	2004-10-28		ENSG00000133216	ENSG00000133216	2.7.10.1	"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3393	protein-coding gene	gene with protein product		600997	"EphB2"	DRT, ERK, EPHT3		1648701	Standard	NM_017449		Approved	Hek5, Tyro5	uc001bge.3	P29323	OTTHUMG00000002881	ENST00000400191.3:c.1532G>A	1.37:g.23219480G>A	ENSP00000383053:p.Arg511His					EPHB2_ENST00000374630.3_Missense_Mutation_p.R511H|EPHB2_ENST00000374627.1_Missense_Mutation_p.R506H|EPHB2_ENST00000465676.1_3'UTR|EPHB2_ENST00000374632.3_Missense_Mutation_p.R511H	p.R511H	NM_004442.6|NM_017449.3	NP_004433.2|NP_059145.2	P29323	EPHB2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153)	7	1550	+		Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258)	511			Fibronectin type-III 2.		O43477|Q5T0U6|Q5T0U7|Q5T0U8	Missense_Mutation	SNP	ENST00000400191.3	37	c.1532G>A		.	.	.	.	.	.	.	.	.	.	G	35	5.484226	0.96307	.	.	ENSG00000133216	ENST00000374625;ENST00000374630;ENST00000400191;ENST00000374632;ENST00000374627	T;T;T;T	0.58358	0.34;0.34;0.34;0.34	5.23	5.23	0.72850	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.71676	0.3368	M	0.72353	2.195	0.80722	D	1	B;D;D;D	0.89917	0.039;1.0;0.999;0.996	B;D;D;D	0.73708	0.007;0.981;0.967;0.969	T	0.72440	-0.4293	10	0.52906	T	0.07	.	17.5404	0.87845	0.0:0.0:1.0:0.0	.	511;511;529;511	A6NJM0;P29323;Q4LE53;P29323-3	.;EPHB2_HUMAN;.;.	H	511;511;511;511;506	ENSP00000363761:R511H;ENSP00000383053:R511H;ENSP00000363763:R511H;ENSP00000363758:R506H	ENSP00000363755:R511H	R	+	2	0	EPHB2	23092067	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.616000	0.98359	2.723000	0.93209	0.655000	0.94253	CGC		0.602	EPHB2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000008060.2	NM_017449		9	81	0	0	0	1	0	9	81					A	23219480	G	A	23219480	3	1	286	1	0	0	0	0	1	0	0	0	5175	1087	38	1	1558	1	EPHB2	1	23219480	Missense_Mutation	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	1046788	23219480	226031141	19	13149											
TCEA3	6920	broad.mit.edu	37	chr1	23720487	23720487	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcggctgcgcacgcggttcCggtacttcatgtccgtgctc	3	11	13	14	6	1	0	1	0	0	0	4	0	3	0	2	3	4	5	2	3	1	3			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr1:23720487C>T	ENST00000450454.2	-	8	810	c.704G>A	c.(703-705)cGg>cAg	p.R235Q		NM_003196.1	NP_003187.1	O75764	TCEA3_HUMAN	transcription elongation factor A (SII), 3	235	TFIIS central. {ECO:0000255|PROSITE- ProRule:PRU00651}.				regulation of DNA-templated transcription, elongation (GO:0032784)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|urinary_tract(1)	7		Colorectal(325;3.46e-05)|Lung NSC(340;4.16e-05)|all_lung(284;6.68e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.0054)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;1.6e-25)|Colorectal(126;8.32e-08)|COAD - Colon adenocarcinoma(152;4.29e-06)|GBM - Glioblastoma multiforme(114;9e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00112)|KIRC - Kidney renal clear cell carcinoma(1967;0.00424)|STAD - Stomach adenocarcinoma(196;0.0145)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.0963)|LUSC - Lung squamous cell carcinoma(448;0.198)		CACGCGGTTCCGGTACTTCAT	0.627																																						ENST00000450454.2																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|urinary_tract(1)	7						c.(703-705)cGg>cAg		transcription elongation factor A (SII), 3							74	76	75					1																	23720487		1970	4155	6125	SO:0001583	missense	6920				regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription elongation, DNA-dependent	nucleus	DNA binding|translation elongation factor activity|zinc ion binding	g.chr1:23720487C>T	AJ223473	CCDS44086.1	1p36.11	2011-01-25			ENSG00000204219	ENSG00000204219			11615	protein-coding gene	gene with protein product		604128				9790746	Standard	NM_003196		Approved	TFIIS.H	uc021oig.1	O75764	OTTHUMG00000003233	ENST00000450454.2:c.704G>A	1.37:g.23720487C>T	ENSP00000406293:p.Arg235Gln						p.R235Q	NM_003196.1	NP_003187.1	O75764	TCEA3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;1.6e-25)|Colorectal(126;8.32e-08)|COAD - Colon adenocarcinoma(152;4.29e-06)|GBM - Glioblastoma multiforme(114;9e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00112)|KIRC - Kidney renal clear cell carcinoma(1967;0.00424)|STAD - Stomach adenocarcinoma(196;0.0145)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.0963)|LUSC - Lung squamous cell carcinoma(448;0.198)	8	810	-		Colorectal(325;3.46e-05)|Lung NSC(340;4.16e-05)|all_lung(284;6.68e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.0054)|Myeloproliferative disorder(586;0.0255)	235			TFIIS central.		A8K2K7|Q5DR83	Missense_Mutation	SNP	ENST00000450454.2	37	c.704G>A	CCDS44086.1	.	.	.	.	.	.	.	.	.	.	C	25.4	4.636630	0.87760	.	.	ENSG00000204219	ENST00000450454	T	0.48201	0.82	5.46	5.46	0.80206	Transcription elongation factor S-IIM (1);Transcription elongation factor S-II, central domain (4);	0.163504	0.52532	D	0.000074	T	0.57213	0.2038	M	0.81341	2.54	0.80722	D	1	P	0.39060	0.657	B	0.40285	0.325	T	0.64241	-0.6454	10	0.72032	D	0.01	-6.1932	18.3438	0.90314	0.0:1.0:0.0:0.0	.	235	O75764	TCEA3_HUMAN	Q	235	ENSP00000406293:R235Q	ENSP00000406293:R235Q	R	-	2	0	TCEA3	23593074	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.586000	0.60984	2.765000	0.95021	0.650000	0.86243	CGG		0.627	TCEA3-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008911.2	NM_003196		6	42	0	0	0	1	0	6	42					T	23720487	C	T	23720487	3	4	286	1	0	0	0	0	1	0	0	0	15666	652	23	2	358	2	TCEA3	1	23720487	Missense_Mutation	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	501007	23720487	225530134	20	13150											
TCEB3	6924	broad.mit.edu	37	chr1	24080607	24080609	+	In_Frame_Del	DEL	GAA	GAA	-																															tagcgttctcttcaccccagGaagaagaagaagctggattt																										TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr1:24080607_24080609delGAA	ENST00000418390.2	+	6	1904_1906	c.1633_1635delGAA	c.(1633-1635)gaadel	p.E548del	TCEB3_ENST00000609199.1_In_Frame_Del_p.E522del	NM_003198.2	NP_003189.2	Q14241	ELOA1_HUMAN	transcription elongation factor B (SIII), polypeptide 3 (110kDa, elongin A)	548	Activation domain. {ECO:0000250}.				gene expression (GO:0010467)|positive regulation of viral transcription (GO:0050434)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	19		Colorectal(325;3.46e-05)|Lung NSC(340;0.000112)|all_lung(284;0.00016)|Renal(390;0.000219)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;2.42e-24)|Colorectal(126;5.5e-08)|COAD - Colon adenocarcinoma(152;3.09e-06)|GBM - Glioblastoma multiforme(114;4.74e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000973)|KIRC - Kidney renal clear cell carcinoma(1967;0.00334)|STAD - Stomach adenocarcinoma(196;0.0127)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.187)		TTCACCCCAGGAAGAAGAAGAAG	0.473																																						ENST00000418390.2																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	19						c.(1633-1635)del		transcription elongation factor B (SIII), polypeptide 3 (110kDa, elongin A)				2,4264		0,2,2131						2.4	1			94	3,8251		1,1,4125	no	coding	TCEB3	NM_003198.2		1,3,6256	A1A1,A1R,RR		0.0363,0.0469,0.0399				5,12515				SO:0001651	inframe_deletion	6924				positive regulation of viral transcription|regulation of transcription from RNA polymerase II promoter|transcription elongation from RNA polymerase II promoter|viral reproduction	integral to membrane	DNA binding	g.chr1:24080607_24080609delGAA	L47345	CCDS239.2	1p36.1	2010-06-22	2002-08-29		ENSG00000011007	ENSG00000011007			11620	protein-coding gene	gene with protein product		600786	"transcription elongation factor B (SIII), polypeptide 3 (110kD, elongin A)"			8586449, 7660129	Standard	NM_003198		Approved	SIII, TCEB3A	uc001bho.3	Q14241	OTTHUMG00000002957	ENST00000418390.2:c.1633_1635delGAA	1.37:g.24080616_24080618delGAA	ENSP00000395574:p.Glu548del						p.E548del	NM_003198.2	NP_003189.2	Q14241	ELOA1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;2.42e-24)|Colorectal(126;5.5e-08)|COAD - Colon adenocarcinoma(152;3.09e-06)|GBM - Glioblastoma multiforme(114;4.74e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000973)|KIRC - Kidney renal clear cell carcinoma(1967;0.00334)|STAD - Stomach adenocarcinoma(196;0.0127)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.187)	6	1904_1906	+		Colorectal(325;3.46e-05)|Lung NSC(340;0.000112)|all_lung(284;0.00016)|Renal(390;0.000219)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)	548			Activation domain (By similarity).		B2R7Q8|Q8IXH1	In_Frame_Del	DEL	ENST00000418390.2	37	c.1633_1635delGAA	CCDS239.2																																																																																				0.473	TCEB3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000008230.2	NM_003198		9	57						9	57	---	---	---	---	-	24080609	GAA	-	24080607	7	5	286	1	0	1	0	1	0	0	0	0	15678	1175	41	0	1655	0	TCEB3	1	24080607	In_Frame_Del	DEL	GAA	TCGA-J9-A52C-01A-11D-A26M-08	360120	24080607	225170014	21	13151											
EXTL1	2134	broad.mit.edu	37	chr1	26359747	26359747	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcgcttctacccatatagcAccatcagaacagatgccatc	13	9	5	14	1	2	2	1	0	1	2	4	2	2	2	3	0	4	2	3	0	4	4			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr1:26359747A>G	ENST00000374280.3	+	8	2326	c.1459A>G	c.(1459-1461)Acc>Gcc	p.T487A		NM_004455.2	NP_004446.2	Q92935	EXTL1_HUMAN	exostosin-like glycosyltransferase 1	487					protein glycosylation (GO:0006486)|skeletal system development (GO:0001501)	integral component of membrane (GO:0016021)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity (GO:0050508)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|stomach(1)|urinary_tract(1)	23		Colorectal(325;3.46e-05)|Lung NSC(340;6.18e-05)|all_lung(284;9.43e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;6.44e-26)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|BRCA - Breast invasive adenocarcinoma(304;0.000954)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00594)|READ - Rectum adenocarcinoma(331;0.0649)		CCCATATAGCACCATCAGAAC	0.567																																						ENST00000374280.3																			0				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|stomach(1)|urinary_tract(1)	23						c.(1459-1461)Acc>Gcc		exostosin-like glycosyltransferase 1							89	79	82					1																	26359747		2203	4300	6503	SO:0001583	missense	2134				skeletal system development	integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|protein binding	g.chr1:26359747A>G	U67191	CCDS271.1	1p36.1	2013-03-01	2013-03-01		ENSG00000158008	ENSG00000158008	2.4.1.224	"Exostosin glycosyltransferase family"	3515	protein-coding gene	gene with protein product	"glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N- acetylglucosaminyltransferase", "alpha-N-acetylglucosaminyltransferase II", "glucuronyl-N-acetylglucosaminylproteoglycan alpha-1,4-N- acetylglucosaminyltransferase", "exostosin-L"	601738	"exostoses (multiple)-like 1"			9037597	Standard	NM_004455		Approved	EXTL, MGC70794	uc001blf.3	Q92935	OTTHUMG00000007509	ENST00000374280.3:c.1459A>G	1.37:g.26359747A>G	ENSP00000363398:p.Thr487Ala						p.T487A	NM_004455.2	NP_004446.2	Q92935	EXTL1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;6.44e-26)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|BRCA - Breast invasive adenocarcinoma(304;0.000954)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00594)|READ - Rectum adenocarcinoma(331;0.0649)	8	2326	+		Colorectal(325;3.46e-05)|Lung NSC(340;6.18e-05)|all_lung(284;9.43e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)	487					Q6GSC1	Missense_Mutation	SNP	ENST00000374280.3	37	c.1459A>G	CCDS271.1	.	.	.	.	.	.	.	.	.	.	A	0.019	-1.459445	0.01062	.	.	ENSG00000158008	ENST00000374280	T	0.74526	-0.85	5.06	-2.85	0.05734	EXTL2, alpha-1,4-N-acetylhexosaminyltransferase (1);	0.512740	0.20680	N	0.087678	T	0.34629	0.0904	N	0.00483	-1.445	0.09310	N	1	B	0.06786	0.001	B	0.09377	0.004	T	0.44112	-0.9349	10	0.15952	T	0.53	-2.1323	10.7483	0.46194	0.5491:0.0:0.4509:0.0	.	487	Q92935	EXTL1_HUMAN	A	487	ENSP00000363398:T487A	ENSP00000363398:T487A	T	+	1	0	EXTL1	26232334	0.007000	0.16637	0.009000	0.14445	0.053000	0.15095	0.061000	0.14366	-0.447000	0.07138	-0.441000	0.05720	ACC		0.567	EXTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019749.1	NM_004455		5	51	0	0	0	1	0	5	51					G	26359747	A	G	26359747	3	3	286	1	0	0	0	0	1	0	0	0	5325	159	6	4	1489	4	EXTL1	1	26359747	Missense_Mutation	SNP	A	TCGA-J9-A52C-01A-11D-A26M-08	2279140	26359747	222890874	22	13152											
GPN2	63906	broad.mit.edu	37	chr1	27216198	27216198	+	IGR	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctgaggtcccactgcgccatTtgggagaagatgctgcgcaa	9	8	13	11	2	0	3	0	1	0	2	1	4	1	3	2	2	3	2	2	2	2	1			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr1:27216198T>C	ENST00000361720.5	-	0	2123				GPN2_ENST00000374135.4_Silent_p.Q130Q|GPN2_ENST00000461282.1_5'Flank	NM_022078.2	NP_071361.2	Q96I76	GPTC3_HUMAN	G patch domain containing 3								nucleic acid binding (GO:0003676)			endometrium(2)|large_intestine(1)|lung(11)|skin(1)	15		all_cancers(24;1.29e-21)|all_epithelial(13;2.35e-19)|Colorectal(325;0.000147)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Breast(348;0.00131)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;3.97e-51)|OV - Ovarian serous cystadenocarcinoma(117;9.55e-30)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|STAD - Stomach adenocarcinoma(196;0.000595)|KIRC - Kidney renal clear cell carcinoma(1967;0.00072)|READ - Rectum adenocarcinoma(331;0.0419)		ACTGCGCCATTTGGGAGAAGA	0.647																																						ENST00000374135.4																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|urinary_tract(1)	9						c.(388-390)caA>caG		GPN-loop GTPase 2							60	65	63					1																	27216198		2203	4300	6503	SO:0001628	intergenic_variant	54707						GTP binding	g.chr1:27216198T>C	BC007767	CCDS290.1	1p35.3-p35.1	2013-01-28		2006-12-13	ENSG00000198746	ENSG00000198746		"G patch domain containing"	25720	protein-coding gene	gene with protein product				GPATC3			Standard	NM_022078		Approved	FLJ12455	uc001bne.3	Q96I76	OTTHUMG00000004229		1.37:g.27216198T>C							p.Q130Q	NM_018066.3	NP_060536.3	Q9H9Y4	GPN2_HUMAN			1	590	-			130					Q5JYH2|Q8NDJ2|Q9H9Z3	Silent	SNP	ENST00000361720.5	37	c.390A>G	CCDS290.1																																																																																				0.647	GPATCH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012181.1	NM_022078		16	78	0	0	0	1	0	16	78					C	27216198	T	C	27216198	1	2	286	0	1	0	0	0	0	0	0	0	6618	1838	64	4		4	GPN2	1	27216198	IGR	SNP	T	TCGA-J9-A52C-01A-11D-A26M-08	856451	27216198	222034423	23	13153											
PTPRU	10076	broad.mit.edu	37	chr1	29585178	29585178	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccctgggcgtctacgtgcgcGttaatgggggccccctgggc	3	8	16	14	4	1	0	0	0	1	0	1	0	1	0	3	4	2	1	3	4	2	2			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr1:29585178G>A	ENST00000345512.3	+	3	496	c.367G>A	c.(367-369)Gtt>Att	p.V123I	PTPRU_ENST00000323874.8_Missense_Mutation_p.V123I|PTPRU_ENST00000373779.3_Missense_Mutation_p.V123I|PTPRU_ENST00000428026.2_Missense_Mutation_p.V123I|PTPRU_ENST00000460170.2_Missense_Mutation_p.V123I|PTPRU_ENST00000356870.3_Missense_Mutation_p.V123I	NM_005704.4	NP_005695.3	Q92729	PTPRU_HUMAN	protein tyrosine phosphatase, receptor type, U	123	MAM. {ECO:0000255|PROSITE- ProRule:PRU00128}.				canonical Wnt signaling pathway (GO:0060070)|cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|homotypic cell-cell adhesion (GO:0034109)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|organ regeneration (GO:0031100)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|protein localization to cell surface (GO:0034394)|response to glucocorticoid (GO:0051384)|single organismal cell-cell adhesion (GO:0016337)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	cell-cell junction (GO:0005911)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(4)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(26)|ovary(1)|prostate(3)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	79		Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871)		CTACGTGCGCGTTAATGGGGG	0.627																																						ENST00000373779.3																			0				breast(4)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(26)|ovary(1)|prostate(3)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	79						c.(367-369)Gtt>Att		protein tyrosine phosphatase, receptor type, U							86	95	92					1																	29585178		2203	4300	6503	SO:0001583	missense	10076				canonical Wnt receptor signaling pathway|cell differentiation|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transmembrane receptor protein tyrosine phosphatase signaling pathway	cell-cell junction|integral to plasma membrane	beta-catenin binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr1:29585178G>A	U71075	CCDS334.1, CCDS335.1, CCDS44098.1, CCDS44098.2, CCDS53290.1	1p35.3	2013-02-11			ENSG00000060656	ENSG00000060656		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Fibronectin type III domain containing"	9683	protein-coding gene	gene with protein product	"pi R-PTP-Psi"	602454				8700514, 9434160	Standard	NM_133178		Approved	PTPRO, hPTP-J, PCP-2, FMI, PTP	uc001bru.3	Q92729	OTTHUMG00000003699	ENST00000345512.3:c.367G>A	1.37:g.29585178G>A	ENSP00000334941:p.Val123Ile					PTPRU_ENST00000428026.2_Missense_Mutation_p.V123I|PTPRU_ENST00000460170.2_Missense_Mutation_p.V123I|PTPRU_ENST00000356870.3_Missense_Mutation_p.V123I|PTPRU_ENST00000345512.3_Missense_Mutation_p.V123I|PTPRU_ENST00000323874.8_Missense_Mutation_p.V123I	p.V123I	NM_001195001.1|NM_133178.3	NP_001181930.1|NP_573439.2	Q92729	PTPRU_HUMAN		Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871)	3	496	+		Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)	123			MAM.		A6H8L1|O00197|P78399|Q59HA4|Q5SYU4|Q5SYU5|Q92735|Q92850	Missense_Mutation	SNP	ENST00000345512.3	37	c.367G>A	CCDS334.1	.	.	.	.	.	.	.	.	.	.	G	36	5.789072	0.96945	.	.	ENSG00000060656	ENST00000345512;ENST00000373779;ENST00000356870;ENST00000323874;ENST00000428026;ENST00000460170	T;T;T;T;T;T	0.02177	4.41;4.41;4.41;4.41;4.41;4.41	5.72	5.72	0.89469	Concanavalin A-like lectin/glucanase (1);MAM domain (3);	0.000000	0.64402	D	0.000002	T	0.13243	0.0321	M	0.73598	2.24	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.80764	0.989;0.989;0.989;0.994;0.994	T	0.00175	-1.1954	9	.	.	.	.	18.8634	0.92281	0.0:0.0:1.0:0.0	.	123;123;123;123;123	Q92729-3;Q92729-4;Q92729-2;E9PH42;Q92729	.;.;.;.;PTPRU_HUMAN	I	123	ENSP00000334941:V123I;ENSP00000362884:V123I;ENSP00000349333:V123I;ENSP00000314987:V123I;ENSP00000392332:V123I;ENSP00000432906:V123I	.	V	+	1	0	PTPRU	29457765	1.000000	0.71417	0.979000	0.43373	0.953000	0.61014	9.869000	0.99810	2.699000	0.92147	0.591000	0.81541	GTT		0.627	PTPRU-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010447.1			18	124	0	0	0	1	0	18	124					A	29585178	G	A	29585178	3	1	286	1	0	0	0	0	1	0	0	0	12813	1145	40	1	377	1	PTPRU	1	29585178	Missense_Mutation	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	2368980	29585178	219665443	24	13154											
SERINC2	347735	broad.mit.edu	37	chr1	31906941	31906941	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acccggaagatgatcagcacGtggaccgccgtgtgggtgaa	10	6	15	10	4	1	3	1	2	0	1	1	5	1	5	3	3	1	1	3	3	2	0	rs11554767	byFrequency	TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr1:31906941G>A	ENST00000373709.3	+	10	1413	c.1263G>A	c.(1261-1263)acG>acA	p.T421T	SERINC2_ENST00000491976.1_3'UTR|SERINC2_ENST00000373710.1_Silent_p.T430T|SERINC2_ENST00000536859.1_Silent_p.T425T|SERINC2_ENST00000536384.1_Silent_p.T425T	NM_178865.4	NP_849196.2	Q96SA4	SERC2_HUMAN	serine incorporator 2	421					phosphatidylserine metabolic process (GO:0006658)|positive regulation of transferase activity (GO:0051347)|sphingolipid metabolic process (GO:0006665)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	L-serine transmembrane transporter activity (GO:0015194)			cervix(1)|endometrium(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(2)	12		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0629)|Breast(348;0.0707)|Medulloblastoma(700;0.123)		STAD - Stomach adenocarcinoma(196;0.0541)|READ - Rectum adenocarcinoma(331;0.151)		TGATCAGCACGTGGACCGCCG	0.627																																						ENST00000373710.1																			0				cervix(1)|endometrium(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(2)	12						c.(1288-1290)acG>acA		serine incorporator 2		G	,,,,	1,4405	2.1+/-5.4	0,1,2202	207	196	199		1275,1290,1098,1275,1263	-6.6	0.9	1	dbSNP_120	199	15,8585	11.2+/-40.8	0,15,4285	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	SERINC2	NM_001199037.1,NM_001199038.1,NM_001199039.1,NM_018565.3,NM_178865.4	,,,,	0,16,6487	AA,AG,GG		0.1744,0.0227,0.123	,,,,	425/460,430/465,366/401,425/460,421/456	31906941	16,12990	2203	4300	6503	SO:0001819	synonymous_variant	347735					integral to membrane		g.chr1:31906941G>A	AY094595	CCDS30662.1, CCDS55583.1, CCDS55584.1, CCDS55585.1	1p35.1	2008-02-05	2005-11-01	2005-11-01	ENSG00000168528	ENSG00000168528			23231	protein-coding gene	gene with protein product		614549	"tumor differentially expressed 2-like"	TDE2L		12949800	Standard	NM_178865		Approved	FKSG84, PRO0899, TDE2	uc010ogh.2	Q96SA4	OTTHUMG00000003796	ENST00000373709.3:c.1263G>A	1.37:g.31906941G>A						SERINC2_ENST00000373709.3_Silent_p.T421T|SERINC2_ENST00000491976.1_3'UTR|SERINC2_ENST00000536859.1_Silent_p.T425T|SERINC2_ENST00000536384.1_Silent_p.T425T	p.T430T	NM_001199038.1	NP_001185967.1	Q96SA4	SERC2_HUMAN		STAD - Stomach adenocarcinoma(196;0.0541)|READ - Rectum adenocarcinoma(331;0.151)	11	1563	+		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0629)|Breast(348;0.0707)|Medulloblastoma(700;0.123)	422					A0AVB4|B4DJK5|B7Z567|B7ZAP2|E7EUZ9|Q86Y23	Silent	SNP	ENST00000373709.3	37	c.1290G>A	CCDS30662.1																																																																																				0.627	SERINC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010680.1	NM_018565		28	155	0	0	0	1	0	28	155					A	31906941	G	A	31906941	2	1	286	1	0	0	0	0	0	0	0	1	14080	1132	40	1		1	SERINC2	1	31906941	Silent	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	2321763	31906941	217343680	25	13155											
CSMD2	114784	broad.mit.edu	37	chr1	33992853	33992853	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gatgggtctcccactgggccGgacctctgctggggaaaaag	8	7	15	11	1	2	0	0	0	2	0	3	3	2	2	3	5	1	1	3	5	2	0			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr1:33992853G>A	ENST00000373381.4	-	65	10353	c.10177C>T	c.(10177-10179)Cgg>Tgg	p.R3393W		NM_001281956.1|NM_052896.3	NP_001268885.1|NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	3249						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				CCACTGGGCCGGACCTCTGCT	0.517																																						ENST00000373381.4																			0				NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246						c.(10177-10179)Cgg>Tgg		CUB and Sushi multiple domains 2							77	75	76					1																	33992853		2203	4300	6503	SO:0001583	missense	114784					integral to membrane|plasma membrane	protein binding	g.chr1:33992853G>A	AY210418	CCDS380.1, CCDS60082.1	1p34.3	2014-01-28			ENSG00000121904	ENSG00000121904			19290	protein-coding gene	gene with protein product		608398				11472063, 11572484	Standard	NM_001281956		Approved	KIAA1884	uc001bxn.1	Q7Z408	OTTHUMG00000011135	ENST00000373381.4:c.10177C>T	1.37:g.33992853G>A	ENSP00000362479:p.Arg3393Trp						p.R3393W	NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN			65	10353	-		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)	3249					B1AM50|E7EUA6|Q53TY4|Q5VT59|Q8N963|Q96Q03|Q9H4V7|Q9H4V8|Q9H4V9|Q9H4W0|Q9H4W1|Q9H4W2|Q9H4W3|Q9H4W4|Q9HCY5|Q9HCY6|Q9HCY7	Missense_Mutation	SNP	ENST00000373381.4	37	c.10177C>T		.	.	.	.	.	.	.	.	.	.	G	22.9	4.346088	0.82022	.	.	ENSG00000121904	ENST00000373381	T	0.25414	1.8	5.41	5.41	0.78517	Complement control module (1);	0.372017	0.27223	N	0.020357	T	0.33789	0.0875	L	0.44542	1.39	0.80722	D	1	P;D	0.58620	0.901;0.983	B;P	0.50934	0.072;0.654	T	0.04294	-1.0962	10	0.66056	D	0.02	.	15.9258	0.79615	0.0:0.0:1.0:0.0	.	3249;3393	Q7Z408;E7EUA6	CSMD2_HUMAN;.	W	3393	ENSP00000362479:R3393W	ENSP00000241312:R3249W	R	-	1	2	CSMD2	33765440	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.284000	0.58983	2.562000	0.86427	0.655000	0.94253	CGG		0.517	CSMD2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_052896		9	38	0	0	0	1	0	9	38					A	33992853	G	A	33992853	3	1	286	1	0	0	0	0	1	0	0	0	3945	1115	39	2	742	2	CSMD2	1	33992853	Missense_Mutation	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	2085912	33992853	215257768	26	13156											
EIF2C3	192669	broad.mit.edu	37	chr1	36439077	36439077	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tggattccatcagtctgttcGgcctgccatgtggaaaatga	9	12	11	9	1	2	1	1	1	1	0	4	3	3	3	3	3	1	1	3	3	2	2			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr1:36439077G>A	ENST00000373191.4	+	5	972	c.623G>A	c.(622-624)cGg>cAg	p.R208Q	AGO3_ENST00000246314.6_Intron|AGO3_ENST00000397828.2_Missense_Mutation_p.R208Q|AGO3_ENST00000324350.5_Missense_Mutation_p.R208Q	NM_024852.3	NP_079128.2	Q9H9G7	AGO3_HUMAN	argonaute RISC catalytic component 3	208					epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|mRNA catabolic process (GO:0006402)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)|regulation of stem cell proliferation (GO:0072091)	cytosol (GO:0005829)|membrane (GO:0016020)|micro-ribonucleoprotein complex (GO:0035068)|RISC complex (GO:0016442)	miRNA binding (GO:0035198)|poly(A) RNA binding (GO:0044822)										CAGTCTGTTCGGCCTGCCATG	0.468																																						ENST00000373191.4																			0											c.(622-624)cGg>cAg		argonaute RISC catalytic component 3							196	194	195					1																	36439077		2203	4300	6503	SO:0001583	missense	192669							g.chr1:36439077G>A	AB046787	CCDS399.1, CCDS400.1	1p34	2013-06-03	2013-02-15	2013-02-15	ENSG00000126070	ENSG00000126070		"Argonaute/PIWI family"	18421	protein-coding gene	gene with protein product	"argonaute 3"	607355	"eukaryotic translation initiation factor 2C, 3"	EIF2C3		12906857	Standard	NM_024852		Approved	hAGO3, FLJ12765	uc001bzp.3	Q9H9G7	OTTHUMG00000184172	ENST00000373191.4:c.623G>A	1.37:g.36439077G>A	ENSP00000362287:p.Arg208Gln					AGO3_ENST00000397828.2_Missense_Mutation_p.R208Q|AGO3_ENST00000324350.5_Missense_Mutation_p.R208Q|AGO3_ENST00000246314.6_Intron	p.R208Q	NM_024852.3	NP_079128.2					5	972	+								B1ALI0|Q5TA55|Q9H1U6	Missense_Mutation	SNP	ENST00000373191.4	37	c.623G>A	CCDS399.1	.	.	.	.	.	.	.	.	.	.	G	34	5.393843	0.96009	.	.	ENSG00000126070	ENST00000324350;ENST00000373191;ENST00000397828	T;T;T	0.15487	2.59;2.42;2.59	5.62	4.71	0.59529	Domain of unknown function DUF1785 (1);	0.000000	0.85682	D	0.000000	T	0.53578	0.1805	H	0.95470	3.675	0.80722	D	1	D;D	0.89917	0.998;1.0	D;D	0.72338	0.959;0.977	T	0.68992	-0.5263	10	0.72032	D	0.01	-15.7954	14.2749	0.66173	0.0712:0.0:0.9288:0.0	.	208;208	Q9H9G7;Q5TA56	AGO3_HUMAN;.	Q	208	ENSP00000317425:R208Q;ENSP00000362287:R208Q;ENSP00000380928:R208Q	ENSP00000317425:R208Q	R	+	2	0	EIF2C3	36211664	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	1.381000	0.46364	0.563000	0.77884	CGG		0.468	AGO3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019831.4	NM_024852		24	138	0	0	0	1	0	24	138					A	36439077	G	A	36439077	3	1	286	1	0	0	0	0	1	0	0	0	5007	1116	39	2	641	2	EIF2C3	1	36439077	Missense_Mutation	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	2446224	36439077	212811544	27	13157											
STK40	83931	broad.mit.edu	37	chr1	36824360	36824360	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcagctgatagaagtcatccGtgccatctttcctcgccaaa	10	11	7	13	2	3	2	2	1	1	1	6	2	5	2	4	0	2	1	4	0	3	2			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr1:36824360G>A	ENST00000373129.3	-	4	582	c.176C>T	c.(175-177)aCg>aTg	p.T59M	STK40_ENST00000373132.3_Missense_Mutation_p.T59M|STK40_ENST00000482458.1_5'UTR|STK40_ENST00000373130.3_Missense_Mutation_p.T64M|STK40_ENST00000359297.2_Missense_Mutation_p.T59M	NM_032017.1	NP_114406.1	Q8N2I9	STK40_HUMAN	serine/threonine kinase 40	59	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				glycogen metabolic process (GO:0005977)|lung alveolus development (GO:0048286)|lung morphogenesis (GO:0060425)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|regulation of gene expression (GO:0010468)|regulation of MAPK cascade (GO:0043408)|respiratory system process (GO:0003016)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)|stomach(1)	13		Myeloproliferative disorder(586;0.0393)				GAAGTCATCCGTGCCATCTTT	0.567																																						ENST00000359297.2																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)|stomach(1)	13						c.(175-177)aCg>aTg		serine/threonine kinase 40							181	136	151					1																	36824360		2203	4300	6503	SO:0001583	missense	83931					cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity	g.chr1:36824360G>A	BC008344	CCDS407.1, CCDS60089.1	1p34.3	2008-02-05			ENSG00000196182	ENSG00000196182			21373	protein-coding gene	gene with protein product		609437					Standard	NM_032017		Approved	MGC4796, SgK495	uc001cak.1	Q8N2I9	OTTHUMG00000008238	ENST00000373129.3:c.176C>T	1.37:g.36824360G>A	ENSP00000362221:p.Thr59Met					STK40_ENST00000482458.1_5'UTR|STK40_ENST00000373129.3_Missense_Mutation_p.T59M|STK40_ENST00000373130.3_Missense_Mutation_p.T64M|STK40_ENST00000373132.3_Missense_Mutation_p.T59M	p.T59M			Q8N2I9	STK40_HUMAN			2	183	-		Myeloproliferative disorder(586;0.0393)	59			Protein kinase.		D3DPS8|Q5VTK8|Q5VTK9|Q6ZMN1|Q8N2J8|Q8N3I6|Q96HN6|Q96I44|Q9BSA3|Q9H7H6	Missense_Mutation	SNP	ENST00000373129.3	37	c.176C>T	CCDS407.1	.	.	.	.	.	.	.	.	.	.	G	33	5.230748	0.95207	.	.	ENSG00000196182	ENST00000373129;ENST00000359297;ENST00000373130;ENST00000373132	T;T;T;T	0.68624	-0.34;-0.34;-0.34;-0.34	5.88	5.88	0.94601	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.87229	0.6125	M	0.93854	3.465	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.996;0.998	D	0.89664	0.3879	10	0.87932	D	0	-12.3353	19.2091	0.93747	0.0:0.0:1.0:0.0	.	59;64;59	Q8N2I9-3;Q8N2I9-4;Q8N2I9	.;.;STK40_HUMAN	M	59;59;64;59	ENSP00000362221:T59M;ENSP00000352245:T59M;ENSP00000362222:T64M;ENSP00000362224:T59M	ENSP00000352245:T59M	T	-	2	0	STK40	36596947	1.000000	0.71417	0.981000	0.43875	0.980000	0.70556	9.765000	0.98953	2.792000	0.96026	0.555000	0.69702	ACG		0.567	STK40-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000022592.1	NM_032017		8	36	0	0	0	1	0	8	36					A	36824360	G	A	36824360	3	1	286	1	0	0	0	0	1	0	0	0	15306	1145	40	1	1167	1	STK40	1	36824360	Missense_Mutation	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	385283	36824360	212426261	28	13158											
MTF1	4520	broad.mit.edu	37	chr1	38305823	38305823	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcaaaggtacattggtacCgctttacctggcagagaaaa	13	9	9	10	1	1	1	1	0	0	1	1	2	1	1	3	3	3	4	3	3	6	5			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr1:38305823C>T	ENST00000373036.4	-	3	556	c.416G>A	c.(415-417)cGg>cAg	p.R139Q		NM_005955.2	NP_005946.2	Q14872	MTF1_HUMAN	metal-regulatory transcription factor 1	139					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to cadmium ion (GO:0046686)|response to metal ion (GO:0010038)|response to oxidative stress (GO:0006979)	nucleus (GO:0005634)	core promoter binding (GO:0001047)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			endometrium(3)|kidney(5)|large_intestine(6)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(1)	31	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				ACATTGGTACCGCTTTACCTG	0.547																																						ENST00000373036.4																			0				endometrium(3)|kidney(5)|large_intestine(6)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(1)	31						c.(415-417)cGg>cAg		metal-regulatory transcription factor 1							103	97	99					1																	38305823		2203	4300	6503	SO:0001583	missense	4520					nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|zinc ion binding	g.chr1:38305823C>T	BC014454	CCDS30676.1	1p33	2008-02-05			ENSG00000188786	ENSG00000188786			7428	protein-coding gene	gene with protein product		600172				8065932	Standard	NM_005955		Approved		uc001cce.1	Q14872	OTTHUMG00000004439	ENST00000373036.4:c.416G>A	1.37:g.38305823C>T	ENSP00000362127:p.Arg139Gln						p.R139Q	NM_005955.2	NP_005946.2	Q14872	MTF1_HUMAN			3	556	-	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)	139					B2RAK6|Q96CB1	Missense_Mutation	SNP	ENST00000373036.4	37	c.416G>A	CCDS30676.1	.	.	.	.	.	.	.	.	.	.	C	36	5.731229	0.96856	.	.	ENSG00000188786	ENST00000373036;ENST00000543396	T	0.15256	2.44	5.65	5.65	0.86999	Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.114925	0.56097	D	0.000022	T	0.39545	0.1082	L	0.52573	1.65	0.53688	D	0.999975	D	0.89917	1.0	D	0.80764	0.994	T	0.05666	-1.0871	10	0.66056	D	0.02	.	19.7243	0.96157	0.0:1.0:0.0:0.0	.	139	Q14872	MTF1_HUMAN	Q	139;7	ENSP00000362127:R139Q	ENSP00000362127:R139Q	R	-	2	0	MTF1	38078410	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.594000	0.82698	2.665000	0.90641	0.650000	0.86243	CGG		0.547	MTF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012984.2	NM_005955		15	46	0	0	0	1	0	15	46					T	38305823	C	T	38305823	3	4	286	1	0	0	0	0	1	0	0	0	9922	652	23	2	1881	2	MTF1	1	38305823	Missense_Mutation	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	1481463	38305823	210944798	29	13159											
UTP11L	51118	broad.mit.edu	37	chr1	38484964	38484964	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aactcacctgcaaacagcccCggagctagtcgacagagtct	12	6	9	14	2	2	1	1	0	1	1	3	3	2	2	3	1	5	2	3	1	3	1			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr1:38484964C>T	ENST00000373014.4	+	6	537	c.476C>T	c.(475-477)cCg>cTg	p.P159L	UTP11L_ENST00000488453.1_3'UTR|UTP11L_ENST00000537711.1_Intron	NM_016037.3	NP_057121.2	Q9Y3A2	UTP11_HUMAN	UTP11-like, U3 small nucleolar ribonucleoprotein (yeast)	159					nervous system development (GO:0007399)|positive regulation of apoptotic process (GO:0043065)|ribosomal small subunit biogenesis (GO:0042274)|rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleolus (GO:0005730)|small-subunit processome (GO:0032040)	poly(A) RNA binding (GO:0044822)			NS(1)|cervix(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	5	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				CAAACAGCCCCGGAGCTAGTC	0.433																																						ENST00000373014.4																			0				NS(1)|cervix(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	5						c.(475-477)cCg>cTg		UTP11-like, U3 small nucleolar ribonucleoprotein, (yeast)							115	118	117					1																	38484964		2203	4300	6503	SO:0001583	missense	51118				induction of apoptosis|nerve growth factor receptor signaling pathway|nervous system development|rRNA processing	cytoplasm|extracellular space|nucleolus|small-subunit processome	protein binding	g.chr1:38484964C>T	AF151852	CCDS429.1	1p34.3	2014-03-06	2014-03-06		ENSG00000183520	ENSG00000183520			24329	protein-coding gene	gene with protein product		609440				11860508, 10810093	Standard	NM_016037		Approved	CGI-94	uc001ccn.4	Q9Y3A2	OTTHUMG00000004435	ENST00000373014.4:c.476C>T	1.37:g.38484964C>T	ENSP00000362105:p.Pro159Leu					UTP11L_ENST00000488453.1_3'UTR|UTP11L_ENST00000537711.1_Intron	p.P159L	NM_016037.3	NP_057121.2	Q9Y3A2	UTP11_HUMAN			6	537	+	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)	159					A8K785|B4DJC6|D3DPT7|Q5VT93|Q9BS98|Q9NS31	Missense_Mutation	SNP	ENST00000373014.4	37	c.476C>T	CCDS429.1	.	.	.	.	.	.	.	.	.	.	C	31	5.100004	0.94197	.	.	ENSG00000183520	ENST00000373014	.	.	.	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	D	0.85106	0.5621	M	0.87682	2.9	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.85646	0.1279	9	0.52906	T	0.07	-21.5617	20.051	0.97627	0.0:1.0:0.0:0.0	.	159	Q9Y3A2	UTP11_HUMAN	L	159	.	ENSP00000362105:P159L	P	+	2	0	UTP11L	38257551	1.000000	0.71417	1.000000	0.80357	0.908000	0.53690	5.001000	0.63946	2.740000	0.93945	0.650000	0.86243	CCG		0.433	UTP11L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012962.1	NM_016037		8	70	0	0	0	1	0	8	70					T	38484964	C	T	38484964	3	4	286	1	0	0	0	0	1	0	0	0	17091	652	23	2	498	2	UTP11L	1	38484964	Missense_Mutation	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	179141	38484964	210765657	30	13160											
MFSD2A	84879	broad.mit.edu	37	chr1	40433346	40433346	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctggcagtggttcttgacccGgtttggcaagaagacagctg	8	10	14	9	1	1	3	0	1	1	2	1	3	1	3	1	4	1	5	1	4	2	3	rs540449746		TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr1:40433346G>A	ENST00000372809.5	+	10	1240	c.1097G>A	c.(1096-1098)cGg>cAg	p.R366Q	MFSD2A_ENST00000480630.1_3'UTR|MFSD2A_ENST00000372811.5_Missense_Mutation_p.R353Q|MFSD2A_ENST00000420632.2_Missense_Mutation_p.R197Q	NM_001136493.1	NP_001129965.1	Q8NA29	NLS1_HUMAN	major facilitator superfamily domain containing 2A	366					establishment of blood-brain barrier (GO:0060856)|fatty acid transport (GO:0015908)|lipid transport across blood brain barrier (GO:1990379)|transcytosis (GO:0045056)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	phospholipid transporter activity (GO:0005548)|symporter activity (GO:0015293)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	24						TTCTTGACCCGGTTTGGCAAG	0.542													G|||	1	0.000199681	0	0	5008	,	,		20304	0		0	False		,,,				2504	0.001					ENST00000372809.5																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	24						c.(1096-1098)cGg>cAg		major facilitator superfamily domain containing 2A							129	110	117					1																	40433346		2203	4300	6503	SO:0001583	missense	84879				transmembrane transport	endoplasmic reticulum membrane|integral to membrane		g.chr1:40433346G>A	AK093223	CCDS446.1, CCDS44118.1, CCDS72762.1	1p34.2	2009-09-08	2009-09-08	2009-09-08	ENSG00000168389	ENSG00000168389			25897	protein-coding gene	gene with protein product		614397	"major facilitator superfamily domain containing 2"	MFSD2		18694395	Standard	XM_005271285		Approved	FLJ14490	uc001cev.3	Q8NA29	OTTHUMG00000009293	ENST00000372809.5:c.1097G>A	1.37:g.40433346G>A	ENSP00000361895:p.Arg366Gln					MFSD2A_ENST00000420632.2_Missense_Mutation_p.R197Q|MFSD2A_ENST00000480630.1_3'UTR|MFSD2A_ENST00000372811.5_Missense_Mutation_p.R353Q	p.R366Q	NM_001136493.1	NP_001129965.1	Q8NA29	MFS2A_HUMAN			10	1240	+			366					A8K675|Q6UWU5|Q96F59|Q9BRC8	Missense_Mutation	SNP	ENST00000372809.5	37	c.1097G>A	CCDS44118.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.265084	0.80358	.	.	ENSG00000168389	ENST00000372811;ENST00000420632;ENST00000372809	D;D;D	0.85013	-1.93;-1.93;-1.93	5.5	5.5	0.81552	Major facilitator superfamily domain, general substrate transporter (1);	0.055847	0.64402	D	0.000001	D	0.88328	0.6407	M	0.79926	2.475	0.58432	D	0.999998	P;P;P	0.43662	0.558;0.814;0.559	B;B;B	0.43754	0.148;0.43;0.213	D	0.89655	0.3872	10	0.66056	D	0.02	-25.2999	18.5783	0.91163	0.0:0.0:1.0:0.0	.	314;366;353	B4DNN7;Q8NA29;Q8NA29-2	.;MFS2A_HUMAN;.	Q	353;197;366	ENSP00000361898:R353Q;ENSP00000391261:R197Q;ENSP00000361895:R366Q	ENSP00000361895:R366Q	R	+	2	0	MFSD2A	40205933	0.918000	0.31147	1.000000	0.80357	0.998000	0.95712	2.756000	0.47549	2.854000	0.98071	0.655000	0.94253	CGG		0.542	MFSD2A-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000025756.1	NM_032793		13	63	0	0	0	1	0	13	63					A	40433346	G	A	40433346	3	1	286	1	0	0	0	0	1	0	0	0	9530	1116	39	2	1135	2	MFSD2A	1	40433346	Missense_Mutation	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	1948382	40433346	208817275	31	13161											
RLF	6018	broad.mit.edu	37	chr1	40705391	40705391	+	Frame_Shift_Del	DEL	A	A	-																															tgctctacaggggaactttgAaatgtaatcatagttccaaa																										TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr1:40705391delA	ENST00000372771.4	+	8	5044	c.5017delA	c.(5017-5019)aaafs	p.K1673fs		NM_012421.3	NP_036553.2	Q13129	RLF_HUMAN	rearranged L-myc fusion	1673					chromosome organization (GO:0051276)|DNA integration (GO:0015074)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(18)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(4)|urinary_tract(2)	68	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;5.87e-19)|Epithelial(16;7.02e-16)|all cancers(16;1.69e-14)|Lung(16;0.0427)|LUSC - Lung squamous cell carcinoma(16;0.0461)			GGGAACTTTGAAATGTAATCA	0.408																																						ENST00000372771.4																			0				NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(18)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(4)|urinary_tract(2)	68						c.(5017-5019)aafs		rearranged L-myc fusion							77	76	76					1																	40705391		2203	4300	6503	SO:0001589	frameshift_variant	6018				chromosome organization|DNA integration|DNA mediated transformation|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding	g.chr1:40705391delA		CCDS448.1	1p32	2010-05-07	2005-08-16		ENSG00000117000	ENSG00000117000		"Zinc fingers, C2H2-type"	10025	protein-coding gene	gene with protein product		180610	"rearranged L-myc fusion sequence"			1649386	Standard	NM_012421		Approved	ZNF292L, Zn-15L	uc001cfc.4	Q13129	OTTHUMG00000005763	ENST00000372771.4:c.5017delA	1.37:g.40705391delA	ENSP00000361857:p.Lys1673fs						p.K1673fs	NM_012421.3	NP_036553.2	Q13129	RLF_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;5.87e-19)|Epithelial(16;7.02e-16)|all cancers(16;1.69e-14)|Lung(16;0.0427)|LUSC - Lung squamous cell carcinoma(16;0.0461)		8	5044	+	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	1673					Q14CQ1|Q9NU60	Frame_Shift_Del	DEL	ENST00000372771.4	37	c.5017delA	CCDS448.1																																																																																				0.408	RLF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000015767.1	NM_012421		9	59						9	59	---	---	---	---	-	40705391	A	-	40705391	7	5	286	1	0	1	0	1	0	0	0	0	13389	247	9	0	5047	0	RLF	1	40705391	Frame_Shift_Del	DEL	A	TCGA-J9-A52C-01A-11D-A26M-08	272045	40705391	208545230	32	13162											
HIVEP3	59269	broad.mit.edu	37	chr1	42045766	42045766	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgacagaggcagagagctcGgaggtgccaaggaggggaga	12	3	19	7	1	0	4	0	1	0	3	1	8	0	6	1	6	2	2	1	6	1	0	rs200451722		TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr1:42045766G>A	ENST00000372583.1	-	4	5588	c.4703C>T	c.(4702-4704)cCg>cTg	p.P1568L	HIVEP3_ENST00000372584.1_Missense_Mutation_p.P1568L|HIVEP3_ENST00000247584.5_Missense_Mutation_p.P1568L|HIVEP3_ENST00000460604.1_5'Flank|HIVEP3_ENST00000429157.2_Missense_Mutation_p.P1568L	NM_024503.4	NP_078779.2	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	1568					positive regulation of transcription, DNA-templated (GO:0045893)|skeletal muscle cell differentiation (GO:0035914)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				CAGAGAGCTCGGAGGTGCCAA	0.557													G|||	1	0.000199681	0	0	5008	,	,		20304	0.001		0	False		,,,				2504	0					ENST00000372584.1																			0				NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85						c.(4702-4704)cCg>cTg		human immunodeficiency virus type I enhancer binding protein 3		G	LEU/PRO,LEU/PRO	0,4406		0,0,2203	117	113	114		4703,4703	4.5	1	1		114	2,8598	2.2+/-6.3	0,2,4298	yes	missense,missense	HIVEP3	NM_001127714.2,NM_024503.4	98,98	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	benign,benign	1568/2406,1568/2407	42045766	2,13004	2203	4300	6503	SO:0001583	missense	59269				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding	g.chr1:42045766G>A	AF278765	CCDS463.1, CCDS44124.1	1p34	2013-01-08	2001-11-28		ENSG00000127124	ENSG00000127124		"Zinc fingers, C2H2-type"	13561	protein-coding gene	gene with protein product	"kappabinding protein-1"	606649	"human immunodeficiency virus type I enhancer-binding protein 3"			11161801	Standard	NR_038260		Approved	KRC, KBP1, KBP-1, SHN3, FLJ16752, KIAA1555, ZAS3, Schnurri-3, ZNF40C	uc001cha.4	Q5T1R4	OTTHUMG00000006361	ENST00000372583.1:c.4703C>T	1.37:g.42045766G>A	ENSP00000361664:p.Pro1568Leu					HIVEP3_ENST00000247584.5_Missense_Mutation_p.P1568L|HIVEP3_ENST00000429157.2_Missense_Mutation_p.P1568L|HIVEP3_ENST00000372583.1_Missense_Mutation_p.P1568L	p.P1568L	NM_001127714.2	NP_001121186.1	Q5T1R4	ZEP3_HUMAN			3	5717	-	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)	1568					A7YY91|Q5T1R5|Q9BZS0|Q9HCL7	Missense_Mutation	SNP	ENST00000372583.1	37	c.4703C>T	CCDS463.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	10.67	1.416445	0.25552	0.0	2.33E-4	ENSG00000127124	ENST00000372584;ENST00000372583;ENST00000247584;ENST00000429157	T;T;T;T	0.06768	3.29;3.26;3.26;3.29	5.37	4.46	0.54185	.	0.126173	0.36703	N	0.002454	T	0.08935	0.0221	L	0.51422	1.61	0.41741	D	0.989613	B;B	0.18968	0.032;0.019	B;B	0.15052	0.012;0.005	T	0.13926	-1.0491	10	0.16896	T	0.51	-21.0304	12.4293	0.55565	0.0782:0.0:0.9218:0.0	.	1568;1568	Q5T1R4-2;Q5T1R4	.;ZEP3_HUMAN	L	1568	ENSP00000361665:P1568L;ENSP00000361664:P1568L;ENSP00000247584:P1568L;ENSP00000410828:P1568L	ENSP00000247584:P1568L	P	-	2	0	HIVEP3	41818353	1.000000	0.71417	1.000000	0.80357	0.898000	0.52572	3.295000	0.51794	1.503000	0.48686	0.655000	0.94253	CCG		0.557	HIVEP3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000016978.1	NM_024503		14	61	0	0	0	1	0	14	61					A	42045766	G	A	42045766	3	1	286	1	0	0	0	0	1	0	0	0	7188	1116	39	2	2541	2	HIVEP3	1	42045766	Missense_Mutation	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	1340375	42045766	207204855	33	13163											
ZMYND12	84217	broad.mit.edu	37	chr1	42915659	42915659	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgtagaagggcatggaagtgCgcagtggaatcaagagctga	13	7	16	5	1	1	3	1	1	0	2	1	5	1	5	0	3	2	4	0	3	5	1			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr1:42915659C>T	ENST00000372565.3	-	2	451	c.182G>A	c.(181-183)cGc>cAc	p.R61H	ZMYND12_ENST00000433602.2_Silent_p.A8A	NM_032257.4	NP_115633.3	Q9H0C1	ZMY12_HUMAN	zinc finger, MYND-type containing 12	61						intracellular (GO:0005622)	metal ion binding (GO:0046872)			NS(1)|endometrium(2)|large_intestine(3)|lung(5)|ovary(2)|prostate(2)|skin(2)	17	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				CATGGAAGTGCGCAGTGGAAT	0.517																																						ENST00000372565.3																			0				NS(1)|endometrium(2)|large_intestine(3)|lung(5)|ovary(2)|prostate(2)|skin(2)	17						c.(181-183)cGc>cAc		zinc finger, MYND-type containing 12							127	109	115					1																	42915659		2203	4300	6503	SO:0001583	missense	84217					intracellular	zinc ion binding	g.chr1:42915659C>T	AK057384	CCDS467.1	1p34.1	2008-02-05			ENSG00000066185	ENSG00000066185		"Zinc fingers, MYND-type"	21192	protein-coding gene	gene with protein product						11230166	Standard	NM_032257		Approved	DKFZp434N2435	uc001chj.3	Q9H0C1	OTTHUMG00000007333	ENST00000372565.3:c.182G>A	1.37:g.42915659C>T	ENSP00000361646:p.Arg61His					ZMYND12_ENST00000433602.2_Silent_p.A8A	p.R61H	NM_032257.4	NP_115633.3	Q9H0C1	ZMY12_HUMAN			2	451	-	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)	61					Q5VUS6|Q8TC87|Q96M51	Missense_Mutation	SNP	ENST00000372565.3	37	c.182G>A	CCDS467.1	.	.	.	.	.	.	.	.	.	.	C	26.2	4.712611	0.89112	.	.	ENSG00000066185	ENST00000372565	T	0.54071	0.59	5.47	5.47	0.80525	.	0.103076	0.64402	D	0.000002	T	0.73560	0.3602	.	.	.	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.76594	-0.2902	9	0.72032	D	0.01	-13.7488	16.8089	0.85713	0.0:1.0:0.0:0.0	.	61	Q9H0C1	ZMY12_HUMAN	H	61	ENSP00000361646:R61H	ENSP00000361646:R61H	R	-	2	0	ZMYND12	42688246	1.000000	0.71417	1.000000	0.80357	0.875000	0.50365	4.047000	0.57383	2.575000	0.86900	0.313000	0.20887	CGC		0.517	ZMYND12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019170.1	NM_032257		10	52	0	0	0	1	0	10	52					T	42915659	C	T	42915659	3	4	286	1	0	0	0	0	1	0	0	0	17704	768	27	1	943	1	ZMYND12	1	42915659	Missense_Mutation	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	869893	42915659	206334962	34	13164											
B4GALT2	8704	broad.mit.edu	37	chr1	44450661	44450661	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cctggtccccatggatgaccGcaacctataccgctgcggcg	7	7	11	16	4	0	1	0	1	0	0	1	2	1	2	6	3	3	2	6	3	3	2	rs202199424		TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr1:44450661G>A	ENST00000356836.6	+	4	1464	c.674G>A	c.(673-675)cGc>cAc	p.R225H	B4GALT2_ENST00000434555.2_Missense_Mutation_p.R159H|B4GALT2_ENST00000309519.7_Missense_Mutation_p.R254H|B4GALT2_ENST00000481924.1_3'UTR|B4GALT2_ENST00000372324.1_Missense_Mutation_p.R225H	NM_001005417.2|NM_030587.2	NP_001005417.1|NP_085076.2	O60909	B4GT2_HUMAN	UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 2	225					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity (GO:0003831)|galactosyltransferase activity (GO:0008378)|lactose synthase activity (GO:0004461)|metal ion binding (GO:0046872)|N-acetyllactosamine synthase activity (GO:0003945)			endometrium(4)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)			N-Acetyl-D-glucosamine(DB00141)	ATGGATGACCGCAACCTATAC	0.597																																						ENST00000356836.6																			0				endometrium(4)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17						c.(673-675)cGc>cAc		UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 2	N-Acetyl-D-glucosamine(DB00141)						80	69	73					1																	44450661		2203	4300	6503	SO:0001583	missense	8704				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|integral to membrane	beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity|lactose synthase activity|metal ion binding|N-acetyllactosamine synthase activity	g.chr1:44450661G>A	AF038660	CCDS506.1, CCDS55596.1	1p34-p33	2013-02-19			ENSG00000117411	ENSG00000117411		"Beta 4-glycosyltransferases"	925	protein-coding gene	gene with protein product		604013				9405390, 9597550	Standard	NM_003780		Approved	beta4Gal-T2	uc010okl.2	O60909	OTTHUMG00000008296	ENST00000356836.6:c.674G>A	1.37:g.44450661G>A	ENSP00000349293:p.Arg225His					B4GALT2_ENST00000372324.1_Missense_Mutation_p.R225H|B4GALT2_ENST00000434555.2_Missense_Mutation_p.R159H|B4GALT2_ENST00000481924.1_3'UTR|B4GALT2_ENST00000309519.7_Missense_Mutation_p.R254H	p.R225H	NM_001005417.2|NM_030587.2	NP_001005417.1|NP_085076.2	O60909	B4GT2_HUMAN			4	1464	+	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)	225					B3KTP0|B4DE14|D3DPY6|D3DPY7|O60511|Q4V9L9|Q5T4X5|Q5T4Y5|Q9BUP6|Q9NSY7	Missense_Mutation	SNP	ENST00000356836.6	37	c.674G>A	CCDS506.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.056664	0.76074	.	.	ENSG00000117411	ENST00000372324;ENST00000434555;ENST00000356836;ENST00000309519	T;T;T;T	0.35048	1.33;1.33;1.33;1.33	5.25	5.25	0.73442	.	0.000000	0.85682	D	0.000000	T	0.56601	0.1996	M	0.64080	1.96	0.80722	D	1	D;P;D	0.89917	1.0;0.822;0.961	D;P;P	0.87578	0.998;0.514;0.646	T	0.48714	-0.9011	10	0.14252	T	0.57	-17.9127	18.8444	0.92198	0.0:0.0:1.0:0.0	.	254;159;225	B4DE14;O60909-2;O60909	.;.;B4GT2_HUMAN	H	225;159;225;254	ENSP00000361399:R225H;ENSP00000407468:R159H;ENSP00000349293:R225H;ENSP00000310696:R254H	ENSP00000310696:R254H	R	+	2	0	B4GALT2	44223248	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	7.948000	0.87774	2.468000	0.83385	0.436000	0.28706	CGC		0.597	B4GALT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022840.1	NM_003780		6	31	0	0	0	1	0	6	31					A	44450661	G	A	44450661	3	1	286	1	0	0	0	0	1	0	0	0	1271	1087	38	1	684	1	B4GALT2	1	44450661	Missense_Mutation	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	1535002	44450661	204799960	35	13165											
MUTYH	4595	broad.mit.edu	37	chr1	45796900	45796900	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggtgtgaaattcctcctgcGtcagccagcgagcacctggt	7	9	12	13	3	1	1	1	1	0	0	3	2	3	1	4	2	4	1	4	2	1	1			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr1:45796900G>A	ENST00000372098.3	-	14	1554	c.1421C>T	c.(1420-1422)aCg>aTg	p.T474M	MUTYH_ENST00000528332.2_Missense_Mutation_p.T158M|MUTYH_ENST00000528013.2_Missense_Mutation_p.T463M|MUTYH_ENST00000450313.1_Missense_Mutation_p.T477M|MUTYH_ENST00000372110.3_Missense_Mutation_p.T464M|MUTYH_ENST00000529984.1_Missense_Mutation_p.T144M|MUTYH_ENST00000354383.6_Missense_Mutation_p.T450M|MUTYH_ENST00000372104.1_Missense_Mutation_p.T449M|MUTYH_ENST00000488731.2_Missense_Mutation_p.T144M|MUTYH_ENST00000372100.5_Missense_Mutation_p.T460M|MUTYH_ENST00000456914.2_Missense_Mutation_p.T449M|MUTYH_ENST00000531105.1_Intron|MUTYH_ENST00000372115.3_Missense_Mutation_p.T463M|MUTYH_ENST00000355498.2_Missense_Mutation_p.T449M|MUTYH_ENST00000448481.1_Missense_Mutation_p.T460M			Q9UIF7	MUTYH_HUMAN	mutY homolog	474	Nudix hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00794}.				base-excision repair (GO:0006284)|base-excision repair, AP site formation (GO:0006285)|depurination (GO:0045007)|DNA repair (GO:0006281)|mismatch repair (GO:0006298)	mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|hydrolase activity, acting on glycosyl bonds (GO:0016798)|metal ion binding (GO:0046872)|MutSalpha complex binding (GO:0032407)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|urinary_tract(1)	19	Acute lymphoblastic leukemia(166;0.155)					TTCCTCCTGCGTCAGCCAGCG	0.507			Mis			colorectal		Base excision repair (BER), DNA glycosylases	MUTYH-associated polyposis																													ENST00000450313.1			yes	Rec		Adenomatous polyposis coli	1	1p34.3-1p32.1	4595	Mis	mutY homolog (E. coli)			E		colorectal			0				NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|urinary_tract(1)	19						c.(1429-1431)aCg>aTg	Base excision repair (BER), DNA glycosylases	mutY homolog							106	106	106					1																	45796900		2203	4300	6503	SO:0001583	missense	4595	MUTYH-associated polyposis	Familial Cancer Database	MAP, MYH-associated polyposis	depurination|mismatch repair	nucleoplasm	4 iron, 4 sulfur cluster binding|DNA N-glycosylase activity|endonuclease activity|metal ion binding|MutSalpha complex binding	g.chr1:45796900G>A	U63329	CCDS520.1, CCDS41320.1, CCDS41321.1, CCDS41322.1, CCDS72776.1, CCDS72777.1	1p34.1	2014-09-17	2013-09-12		ENSG00000132781	ENSG00000132781			7527	protein-coding gene	gene with protein product		604933	"mutY (E. coli) homolog", "mutY homolog (E. coli)"			7823963, 10684930	Standard	NM_012222		Approved	MYH	uc009vxp.3	Q9UIF7	OTTHUMG00000007682	ENST00000372098.3:c.1421C>T	1.37:g.45796900G>A	ENSP00000361170:p.Thr474Met					MUTYH_ENST00000528332.2_Missense_Mutation_p.T158M|MUTYH_ENST00000372115.3_Missense_Mutation_p.T463M|MUTYH_ENST00000488731.2_Missense_Mutation_p.T144M|MUTYH_ENST00000372110.3_Missense_Mutation_p.T464M|MUTYH_ENST00000456914.2_Missense_Mutation_p.T449M|MUTYH_ENST00000355498.2_Missense_Mutation_p.T449M|MUTYH_ENST00000372098.3_Missense_Mutation_p.T474M|MUTYH_ENST00000372100.5_Missense_Mutation_p.T460M|MUTYH_ENST00000448481.1_Missense_Mutation_p.T460M|MUTYH_ENST00000354383.6_Missense_Mutation_p.T450M|MUTYH_ENST00000529984.1_Missense_Mutation_p.T144M|MUTYH_ENST00000531105.1_Intron|MUTYH_ENST00000372104.1_Missense_Mutation_p.T449M	p.T477M	NM_001128425.1|NM_012222.2	NP_001121897.1|NP_036354.1	Q9UIF7	MUTYH_HUMAN			14	1645	-	Acute lymphoblastic leukemia(166;0.155)		474		Missing (in CAPAR; dysfunctional in base excision repair assay).	Nudix hydrolase.		D3DPZ4|Q15830|Q9UBP2|Q9UBS7|Q9UIF4|Q9UIF5|Q9UIF6	Missense_Mutation	SNP	ENST00000372098.3	37	c.1430C>T	CCDS520.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.07|15.07	2.723756|2.723756	0.48728|0.48728	.|.	.|.	ENSG00000132781|ENSG00000132781	ENST00000529892|ENST00000529984;ENST00000528332;ENST00000372104;ENST00000448481;ENST00000456914;ENST00000354383;ENST00000355498;ENST00000372098;ENST00000372110;ENST00000372115;ENST00000488731;ENST00000450313;ENST00000372100	.|D;D;D;D;D;D;D;D;D;D;D;D;D	.|0.90385	.|-2.66;-2.66;-2.66;-2.66;-2.66;-2.66;-2.66;-2.66;-2.66;-2.66;-2.66;-2.66;-2.66	5.16|5.16	5.16|5.16	0.70880|0.70880	.|NUDIX hydrolase domain (2);NUDIX hydrolase domain-like (1);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.96175|0.96175	0.8753|0.8753	M|M	0.89414|0.89414	3.03|3.03	0.80722|0.80722	D|D	1|1	.|D;D;D;D;D;D;D;D	.|0.89917	.|1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	.|D;D;D;D;D;D;D;D	.|0.91635	.|0.999;0.991;0.981;0.996;0.981;0.991;0.991;0.991	D|D	0.96787|0.96787	0.9579|0.9579	5|10	.|0.72032	.|D	.|0.01	-23.5468|-23.5468	18.6575|18.6575	0.91459|0.91459	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|158;477;474;464;474;463;357;450	.|B4DEX2;E5KP25;E5KP26;Q9UIF7-2;Q9UIF7;E5KP27;D3DPZ6;E5KP28	.|.;.;.;.;MUTYH_HUMAN;.;.;.	C|M	141|144;158;449;460;449;450;449;474;464;463;144;477;460	.|ENSP00000437093:T144M;ENSP00000433076:T158M;ENSP00000361176:T449M;ENSP00000409718:T460M;ENSP00000407590:T449M;ENSP00000346354:T450M;ENSP00000347685:T449M;ENSP00000361170:T474M;ENSP00000361182:T464M;ENSP00000361187:T463M;ENSP00000432330:T144M;ENSP00000408176:T477M;ENSP00000361172:T460M	.|ENSP00000346354:T450M	R|T	-|-	1|2	0|0	MUTYH|MUTYH	45569487|45569487	1.000000|1.000000	0.71417|0.71417	0.994000|0.994000	0.49952|0.49952	0.122000|0.122000	0.20287|0.20287	8.908000|8.908000	0.92640|0.92640	2.414000|2.414000	0.81942|0.81942	0.655000|0.655000	0.94253|0.94253	CGC|ACG		0.507	MUTYH-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000020529.1	NM_012222		13	62	0	0	0	1	0	13	62					A	45796900	G	A	45796900	3	1	286	1	0	0	0	0	1	0	0	0	9993	1145	40	1	231	1	MUTYH	1	45796900	Missense_Mutation	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	1346239	45796900	203453721	36	13166											
LRRC41	10489	broad.mit.edu	37	chr1	46745250	46745250	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggcagaaattgggctgggCgcttctcaaacagacggcag	11	6	14	10	2	1	2	1	0	1	2	2	2	1	2	0	4	1	4	0	4	2	2	rs28363251	byFrequency	TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr1:46745250C>T	ENST00000343304.6	-	8	2342	c.2057G>A	c.(2056-2058)cGc>cAc	p.R686H	LRRC41_ENST00000472710.1_5'UTR	NM_006369.4	NP_006360.3	Q15345	LRC41_HUMAN	leucine rich repeat containing 41	686					protein ubiquitination (GO:0016567)	membrane (GO:0016020)				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(3)|pancreas(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	28	Acute lymphoblastic leukemia(166;0.155)					TTGGGCTGGGCGCTTCTCAAA	0.557																																						ENST00000343304.6																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(3)|pancreas(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	28						c.(2056-2058)cGc>cAc		leucine rich repeat containing 41							98	113	108					1																	46745250		2203	4300	6503	SO:0001583	missense	10489							g.chr1:46745250C>T	AK024051	CCDS533.1	1p34.1	2008-02-05			ENSG00000132128	ENSG00000132128			16917	protein-coding gene	gene with protein product						11384984	Standard	XM_005270376		Approved	MUF1	uc001cpn.3	Q15345	OTTHUMG00000007810	ENST00000343304.6:c.2057G>A	1.37:g.46745250C>T	ENSP00000343298:p.Arg686His					LRRC41_ENST00000472710.1_5'UTR	p.R686H	NM_006369.4	NP_006360.3	Q15345	LRC41_HUMAN			8	2342	-	Acute lymphoblastic leukemia(166;0.155)		686					A8K5G8|Q3MJ96|Q5TDF5|Q71RA8|Q9BSM0	Missense_Mutation	SNP	ENST00000343304.6	37	c.2057G>A	CCDS533.1	.	.	.	.	.	.	.	.	.	.	C	14.54	2.565488	0.45694	.	.	ENSG00000132128	ENST00000343304	T	0.53423	0.62	4.57	3.66	0.41972	.	0.257192	0.34460	N	0.003943	T	0.42291	0.1196	N	0.14661	0.345	0.28813	N	0.898108	B;D	0.69078	0.414;0.997	B;P	0.57204	0.021;0.815	T	0.30475	-0.9977	10	0.45353	T	0.12	-18.0221	10.0465	0.42190	0.0:0.7857:0.1371:0.0772	rs28363251;rs28363251	686;686	Q15345-3;Q15345	.;LRC41_HUMAN	H	686	ENSP00000343298:R686H	ENSP00000343298:R686H	R	-	2	0	LRRC41	46517837	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.712000	0.47186	1.141000	0.42275	0.561000	0.74099	CGC		0.557	LRRC41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021438.1	NM_006369		18	123	0	0	0	1	0	18	123					T	46745250	C	T	46745250	3	4	286	1	0	0	0	0	1	0	0	0	8999	768	27	1	393	1	LRRC41	1	46745250	Missense_Mutation	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	948350	46745250	202505371	37	13167											
LRRC41	10489	broad.mit.edu	37	chr1	46751151	46751151	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctccaaggtggagatgctgcGgaatctttgtgaagcttcca	9	11	12	9	1	1	2	0	1	1	1	3	4	3	3	2	3	3	2	2	3	3	2			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr1:46751151G>A	ENST00000343304.6	-	4	1663	c.1378C>T	c.(1378-1380)Cgc>Tgc	p.R460C	LRRC41_ENST00000472710.1_5'UTR	NM_006369.4	NP_006360.3	Q15345	LRC41_HUMAN	leucine rich repeat containing 41	460					protein ubiquitination (GO:0016567)	membrane (GO:0016020)				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(3)|pancreas(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	28	Acute lymphoblastic leukemia(166;0.155)					GAGATGCTGCGGAATCTTTGT	0.562																																						ENST00000343304.6																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(3)|pancreas(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	28						c.(1378-1380)Cgc>Tgc		leucine rich repeat containing 41							99	94	96					1																	46751151		2203	4300	6503	SO:0001583	missense	10489							g.chr1:46751151G>A	AK024051	CCDS533.1	1p34.1	2008-02-05			ENSG00000132128	ENSG00000132128			16917	protein-coding gene	gene with protein product						11384984	Standard	XM_005270376		Approved	MUF1	uc001cpn.3	Q15345	OTTHUMG00000007810	ENST00000343304.6:c.1378C>T	1.37:g.46751151G>A	ENSP00000343298:p.Arg460Cys					LRRC41_ENST00000472710.1_5'UTR	p.R460C	NM_006369.4	NP_006360.3	Q15345	LRC41_HUMAN			4	1663	-	Acute lymphoblastic leukemia(166;0.155)		460					A8K5G8|Q3MJ96|Q5TDF5|Q71RA8|Q9BSM0	Missense_Mutation	SNP	ENST00000343304.6	37	c.1378C>T	CCDS533.1	.	.	.	.	.	.	.	.	.	.	g	15.80	2.939325	0.52972	.	.	ENSG00000132128	ENST00000343304;ENST00000371972	T	0.53857	0.6	5.16	5.16	0.70880	.	0.000000	0.64402	D	0.000002	T	0.59390	0.2190	L	0.27053	0.805	0.47407	D	0.999413	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.997;0.998;0.996	T	0.63161	-0.6699	10	0.87932	D	0	-0.5624	12.4453	0.55647	0.0:0.0:0.7065:0.2935	.	460;438;460	Q15345-3;E9PE58;Q15345	.;.;LRC41_HUMAN	C	460;438	ENSP00000343298:R460C	ENSP00000343298:R460C	R	-	1	0	LRRC41	46523738	1.000000	0.71417	1.000000	0.80357	0.905000	0.53344	3.556000	0.53734	2.424000	0.82194	0.450000	0.29827	CGC		0.562	LRRC41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021438.1	NM_006369		12	66	0	0	0	1	0	12	66					A	46751151	G	A	46751151	3	1	286	1	0	0	0	0	1	0	0	0	8999	1116	39	2	1088	2	LRRC41	1	46751151	Missense_Mutation	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	5901	46751151	202499470	38	13168											
CYP4X1	260293	broad.mit.edu	37	chr1	47505158	47505158	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgagcatcaagagagatgcCgggaggaggtcaggggcatc	11	5	17	8	1	2	3	2	1	0	2	3	6	2	5	1	5	2	2	1	5	1	0	rs151115170		TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr1:47505158C>T	ENST00000371901.3	+	8	1277	c.1027C>T	c.(1027-1029)Cgg>Tgg	p.R343W	CYP4X1_ENST00000538609.1_Missense_Mutation_p.R342W|CYP4X1_ENST00000466294.1_3'UTR	NM_178033.1	NP_828847.1	Q8N118	CP4X1_HUMAN	cytochrome P450, family 4, subfamily X, polypeptide 1	343						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	17						AGAGAGATGCCGGGAGGAGGT	0.522													C|||	1	0.000199681	0	0	5008	,	,		15115	0		0	False		,,,				2504	0.001					ENST00000371901.3																			0				endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	17						c.(1027-1029)Cgg>Tgg		cytochrome P450, family 4, subfamily X, polypeptide 1		C	TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	67	67	67		1027	4.2	1	1	dbSNP_134	67	1,8599	1.2+/-3.3	0,1,4299	yes	missense	CYP4X1	NM_178033.1	101	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	probably-damaging	343/510	47505158	2,13004	2203	4300	6503	SO:0001583	missense	260293					endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding	g.chr1:47505158C>T	AK091806	CCDS544.1	1p33	2008-02-05			ENSG00000186377	ENSG00000186377		"Cytochrome P450s"	20244	protein-coding gene	gene with protein product		614999				12176035	Standard	NM_178033		Approved	MGC40051	uc001cqt.3	Q8N118	OTTHUMG00000008017	ENST00000371901.3:c.1027C>T	1.37:g.47505158C>T	ENSP00000360968:p.Arg343Trp					CYP4X1_ENST00000538609.1_Missense_Mutation_p.R342W|CYP4X1_ENST00000466294.1_3'UTR	p.R343W	NM_178033.1	NP_828847.1	Q8N118	CP4X1_HUMAN			8	1277	+			343					G3V1U1|Q5VVE5|Q6ZN67|Q8NAZ3	Missense_Mutation	SNP	ENST00000371901.3	37	c.1027C>T	CCDS544.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.070349	0.76301	2.27E-4	1.16E-4	ENSG00000186377	ENST00000538609;ENST00000371901	T;T	0.73258	-0.6;-0.73	5.14	4.19	0.49359	.	0.000000	0.85682	D	0.000000	T	0.80449	0.4625	M	0.83774	2.66	0.53688	D	0.999979	D;P	0.55800	0.973;0.926	P;P	0.54270	0.747;0.447	D	0.83883	0.0280	10	0.87932	D	0	.	13.7627	0.62977	0.2423:0.7577:0.0:0.0	.	343;342	Q8N118;G3V1U1	CP4X1_HUMAN;.	W	342;343	ENSP00000445965:R342W;ENSP00000360968:R343W	ENSP00000360968:R343W	R	+	1	2	CYP4X1	47277745	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	2.369000	0.44231	2.667000	0.90743	0.563000	0.77884	CGG		0.522	CYP4X1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022017.1	NM_178033		6	42	0	0	0	1	0	6	42					T	47505158	C	T	47505158	3	4	286	1	0	0	0	0	1	0	0	0	4193	643	23	2	1057	2	CYP4X1	1	47505158	Missense_Mutation	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	754007	47505158	201745463	39	13169											
FOXD2	2306	broad.mit.edu	37	chr1	47904283	47904283	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gatctgcgagttcatcagcgGccgcttcccctactaccggg	6	9	11	15	4	3	0	2	0	1	0	4	2	4	0	4	2	4	2	4	2	2	4			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr1:47904283G>A	ENST00000334793.5	+	1	2595	c.476G>A	c.(475-477)gGc>gAc	p.G159D		NM_004474.3	NP_004465.3	O60548	FOXD2_HUMAN	forkhead box D2	159					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			lung(4)	4				READ - Rectum adenocarcinoma(2;0.0908)		TTCATCAGCGGCCGCTTCCCC	0.617																																						ENST00000334793.5																			0				lung(4)	4						c.(475-477)gGc>gAc		forkhead box D2							48	58	55					1																	47904283		2203	4300	6503	SO:0001583	missense	2306				axon extension involved in axon guidance|cartilage development|dichotomous subdivision of terminal units involved in ureteric bud branching|embryo development|enteric nervous system development|iridophore differentiation|lateral line nerve glial cell development|melanocyte differentiation|neural crest cell migration|pattern specification process|peripheral nervous system development|positive regulation of BMP signaling pathway|positive regulation of kidney development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chr1:47904283G>A	AF042832	CCDS30708.1	1p34-p32	2008-02-05			ENSG00000186564	ENSG00000186564		"Forkhead boxes"	3803	protein-coding gene	gene with protein product		602211		FKHL17		9403061, 12621056	Standard	NM_004474		Approved	FREAC9	uc001crm.3	O60548	OTTHUMG00000007950	ENST00000334793.5:c.476G>A	1.37:g.47904283G>A	ENSP00000335493:p.Gly159Asp						p.G159D	NM_004474.3	NP_004465.3	O60548	FOXD2_HUMAN		READ - Rectum adenocarcinoma(2;0.0908)	1	2595	+			159					Q5SVZ3	Missense_Mutation	SNP	ENST00000334793.5	37	c.476G>A	CCDS30708.1	.	.	.	.	.	.	.	.	.	.	G	11.19	1.565665	0.27915	.	.	ENSG00000186564	ENST00000334793	D	0.95001	-3.58	4.19	4.19	0.49359	Winged helix-turn-helix transcription repressor DNA-binding (1);Transcription factor, fork head (4);	0.255861	0.38326	U	0.001734	T	0.78368	0.4272	N	0.00254	-1.765	0.40710	D	0.982562	B	0.18013	0.025	B	0.31290	0.127	T	0.75107	-0.3434	10	0.10902	T	0.67	.	9.2358	0.37466	0.104:0.0:0.896:0.0	.	159	O60548	FOXD2_HUMAN	D	159	ENSP00000335493:G159D	ENSP00000335493:G159D	G	+	2	0	FOXD2	47676870	0.995000	0.38212	1.000000	0.80357	0.994000	0.84299	0.747000	0.26290	1.861000	0.53984	0.430000	0.28490	GGC		0.617	FOXD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021831.1	NM_004474		24	85	0	0	0	1	0	24	85					A	47904283	G	A	47904283	3	1	286	1	0	0	0	0	1	0	0	0	5997	1203	42	3	478	3	FOXD2	1	47904283	Missense_Mutation	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	399125	47904283	201346338	40	13170											
SLC5A9	200010	broad.mit.edu	37	chr1	48694826	48694826	+	Intron	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggatccatccaaggtcacacGggaggactggggtcaggtcc	9	6	15	11	1	2	0	2	0	0	0	5	3	5	3	3	7	0	0	3	7	1	0			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr1:48694826G>A	ENST00000438567.2	+	4	391				SLC5A9_ENST00000236495.5_Missense_Mutation_p.G131R|RP5-1024N4.4_ENST00000606809.1_RNA|SLC5A9_ENST00000420136.2_Intron|SLC5A9_ENST00000533824.1_Missense_Mutation_p.G131R	NM_001011547.2	NP_001011547.2	Q2M3M2	SC5A9_HUMAN	solute carrier family 5 (sodium/sugar cotransporter), member 9						sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			breast(1)|endometrium(3)|large_intestine(4)|liver(2)|lung(11)|ovary(3)|prostate(1)|urinary_tract(1)	26						aaggtcacacgggaggactgg	0.532																																						ENST00000236495.5																			0				breast(1)|endometrium(3)|large_intestine(4)|liver(2)|lung(11)|ovary(3)|prostate(1)|urinary_tract(1)	26						c.(391-393)Ggg>Agg		solute carrier family 5 (sodium/sugar cotransporter), member 9							142	152	149					1																	48694826		2203	4300	6503	SO:0001627	intron_variant	200010					integral to membrane|plasma membrane	low-affinity glucose:sodium symporter activity	g.chr1:48694826G>A	BX648549	CCDS30709.2, CCDS44136.1	1p33	2013-07-19	2013-07-19		ENSG00000117834	ENSG00000117834		"Solute carriers"	22146	protein-coding gene	gene with protein product			"solute carrier family 5 (sodium/glucose cotransporter), member 9"				Standard	NM_001011547		Approved	SGLT4	uc001crn.2	Q2M3M2	OTTHUMG00000007959	ENST00000438567.2:c.340-141G>A	1.37:g.48694826G>A						SLC5A9_ENST00000420136.2_Intron|RP5-1024N4.4_ENST00000606809.1_RNA|SLC5A9_ENST00000438567.2_Intron|SLC5A9_ENST00000533824.1_Missense_Mutation_p.G131R	p.G131R	NM_001135181.1	NP_001128653.1	Q2M3M2	SC5A9_HUMAN			4	441	+			113					B3KY87|B7ZL45|B7ZL47|E9PAK4|E9PJ08|Q5TET3	Missense_Mutation	SNP	ENST00000438567.2	37	c.391G>A	CCDS30709.2	.	.	.	.	.	.	.	.	.	.	G	9.321	1.058156	0.19987	.	.	ENSG00000117834	ENST00000533824;ENST00000236495	D;D	0.87571	-2.27;-2.24	3.79	-2.15	0.07102	.	15.737400	0.00166	N	0.000000	T	0.71126	0.3303	N	0.08118	0	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.60905	-0.7170	10	0.15952	T	0.53	.	3.9455	0.09346	0.441:0.199:0.3599:0.0	.	131;131	E9PJ08;E9PAK4	.;.	R	131	ENSP00000431900:G131R;ENSP00000236495:G131R	ENSP00000236495:G131R	G	+	1	0	SLC5A9	48467413	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	0.013000	0.13310	-0.291000	0.09012	-0.459000	0.05422	GGG		0.532	SLC5A9-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022061.3	XM_117174		23	134	0	0	0	1	0	23	134					A	48694826	G	A	48694826	1	1	286	0	1	0	0	0	0	0	0	0	14672	1116	39	2		2	SLC5A9	1	48694826	Intron	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	790543	48694826	200555795	41	13171											
BEND5	79656	broad.mit.edu	37	chr1	49224879	49224879	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctatggcccaggctcaggccGttctgcttctctagccgagc	5	10	11	15	2	3	0	1	0	2	0	4	1	3	0	3	3	3	3	3	3	2	4			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr1:49224879G>A	ENST00000371833.3	-	3	524	c.438C>T	c.(436-438)aaC>aaT	p.N146N	AGBL4_ENST00000371838.1_Intron|AGBL4_ENST00000371839.1_Intron|BEND5_ENST00000476096.1_5'UTR	NM_024603.2	NP_078879.2	Q7L4P6	BEND5_HUMAN	BEN domain containing 5	146						Golgi apparatus (GO:0005794)				large_intestine(5)|lung(2)|skin(1)	8						GGCTCAGGCCGTTCTGCTTCT	0.612																																						ENST00000371833.3																			0				large_intestine(5)|lung(2)|skin(1)	8						c.(436-438)aaC>aaT		BEN domain containing 5							38	42	41					1																	49224879		692	1591	2283	SO:0001819	synonymous_variant	79656							g.chr1:49224879G>A	BC007932	CCDS552.2	1p33	2012-11-22	2008-10-03	2008-10-03	ENSG00000162373	ENSG00000162373		"BEN domain containing"	25668	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 165"	C1orf165		12477932	Standard	NM_024603		Approved	FLJ11588	uc001crx.4	Q7L4P6	OTTHUMG00000008153	ENST00000371833.3:c.438C>T	1.37:g.49224879G>A						AGBL4_ENST00000371839.1_Intron|BEND5_ENST00000476096.1_5'UTR|AGBL4_ENST00000371838.1_Intron	p.N146N	NM_024603.2	NP_078879.2	Q7L4P6	BEND5_HUMAN			3	524	-			146					D3DQ27|Q96A62|Q9HAI3	Silent	SNP	ENST00000371833.3	37	c.438C>T	CCDS552.2																																																																																				0.612	BEND5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022323.1	NM_024603		4	8	0	0	0	1	0	4	8					A	49224879	G	A	49224879	2	1	286	1	0	0	0	0	0	0	0	1	1401	1136	40	1		1	BEND5	1	49224879	Silent	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	530053	49224879	200025742	42	13172											
LRP8	7804	broad.mit.edu	37	chr1	53728214	53728214	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ctcaatcttggcctggtcccCccagtcagaccaatacatga	10	9	7	15	0	3	2	2	1	1	1	4	2	4	2	5	2	1	0	5	2	3	2			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr1:53728214C>A	ENST00000306052.6	-	11	1779	c.1678G>T	c.(1678-1680)Ggg>Tgg	p.G560W	LRP8_ENST00000347547.2_Missense_Mutation_p.G390W|LRP8_ENST00000465675.1_Missense_Mutation_p.G113W|LRP8_ENST00000371454.2_Missense_Mutation_p.G560W|LRP8_ENST00000354412.3_Missense_Mutation_p.G431W|LRP8_ENST00000460214.1_5'Flank	NM_004631.4	NP_004622.2	Q14114	LRP8_HUMAN	low density lipoprotein receptor-related protein 8, apolipoprotein e receptor	560					ammon gyrus development (GO:0021541)|blood coagulation (GO:0007596)|cellular response to cholesterol (GO:0071397)|cellular response to growth factor stimulus (GO:0071363)|cytokine-mediated signaling pathway (GO:0019221)|endocytosis (GO:0006897)|layer formation in cerebral cortex (GO:0021819)|lipid metabolic process (GO:0006629)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|phototransduction, visible light (GO:0007603)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendrite development (GO:1900006)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein tyrosine kinase activity (GO:0061098)|proteolysis (GO:0006508)|receptor-mediated endocytosis (GO:0006898)|reelin-mediated signaling pathway (GO:0038026)|regulation of synaptic transmission (GO:0050804)|response to drug (GO:0042493)|retinoid metabolic process (GO:0001523)|signal transduction (GO:0007165)	caveola (GO:0005901)|dendrite (GO:0030425)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|microtubule associated complex (GO:0005875)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|receptor complex (GO:0043235)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|high-density lipoprotein particle binding (GO:0008035)|reelin receptor activity (GO:0038025)|transmembrane signaling receptor activity (GO:0004888)|very-low-density lipoprotein particle receptor activity (GO:0030229)			endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(1)	21						GCCTGGTCCCCCCAGTCAGAC	0.502																																						ENST00000306052.6																			0				endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(1)	21						c.(1678-1680)Ggg>Tgg		low density lipoprotein receptor-related protein 8, apolipoprotein e receptor							206	208	207					1																	53728214		2203	4300	6503	SO:0001583	missense	7804				cytokine-mediated signaling pathway|endocytosis|lipid metabolic process|platelet activation|proteolysis	caveola	calcium ion binding|very-low-density lipoprotein particle receptor activity	g.chr1:53728214C>A	D50678	CCDS578.1, CCDS579.1, CCDS580.1, CCDS30720.1	1p32.3	2013-05-29			ENSG00000157193	ENSG00000157193		"Low density lipoprotein receptors"	6700	protein-coding gene	gene with protein product		602600				8626535, 9079678	Standard	NM_004631		Approved	APOER2, MCI1, LRP-8, HSZ75190	uc001cvi.2	Q14114	OTTHUMG00000008924	ENST00000306052.6:c.1678G>T	1.37:g.53728214C>A	ENSP00000303634:p.Gly560Trp					LRP8_ENST00000354412.3_Missense_Mutation_p.G431W|LRP8_ENST00000465675.1_Missense_Mutation_p.G113W|LRP8_ENST00000371454.2_Missense_Mutation_p.G560W|LRP8_ENST00000347547.2_Missense_Mutation_p.G390W	p.G560W	NM_004631.4	NP_004622.2	Q14114	LRP8_HUMAN			11	1779	-			560					B1AMT6|B1AMT7|B1AMT8|O14968|Q86V27|Q99876|Q9BR78	Missense_Mutation	SNP	ENST00000306052.6	37	c.1678G>T	CCDS578.1	.	.	.	.	.	.	.	.	.	.	C	33	5.237877	0.95240	.	.	ENSG00000157193	ENST00000306052;ENST00000371454;ENST00000465675;ENST00000354412;ENST00000347547	D;D;D;D;D	0.95342	-3.68;-3.68;-3.68;-3.68;-3.68	5.64	5.64	0.86602	Six-bladed beta-propeller, TolB-like (1);Growth factor, receptor (1);	.	.	.	.	D	0.98667	0.9553	H	0.98769	4.325	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;1.0	D	0.99075	1.0835	9	0.87932	D	0	.	19.8946	0.96949	0.0:1.0:0.0:0.0	.	113;431;390;560;560;113	B3KU40;Q14114-2;Q14114-4;Q14114-3;Q14114;E9PP15	.;.;.;.;LRP8_HUMAN;.	W	560;560;113;431;390	ENSP00000303634:G560W;ENSP00000360509:G560W;ENSP00000437009:G113W;ENSP00000346391:G431W;ENSP00000334522:G390W	ENSP00000303634:G560W	G	-	1	0	LRP8	53500802	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.580000	0.82523	2.937000	0.99478	0.650000	0.86243	GGG		0.502	LRP8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000024699.1	NM_004631		44	211	1	0	5.73435e-26	1	5.92169e-26	44	211					A	53728214	C	A	53728214	3	1	286	1	0	0	0	0	1	0	0	0	8963	623	22	5	1249	5	LRP8	1	53728214	Missense_Mutation	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	4503335	53728214	195522407	43	13173											
C8B	732	broad.mit.edu	37	chr1	57422471	57422471	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cacacacaaagccttcacatCgcacttgacttccgcatggt	11	9	6	15	2	1	1	1	1	0	0	3	1	2	1	2	1	1	2	2	1	1	3			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr1:57422471C>T	ENST00000371237.4	-	3	428	c.362G>A	c.(361-363)cGa>cAa	p.R121Q	C8B_ENST00000535057.1_Missense_Mutation_p.R59Q|C8B_ENST00000543257.1_Missense_Mutation_p.R69Q	NM_000066.2	NP_000057	P07358	CO8B_HUMAN	complement component 8, beta polypeptide	121	LDL-receptor class A. {ECO:0000255|PROSITE-ProRule:PRU00124}.				complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|immune response (GO:0006955)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|membrane attack complex (GO:0005579)|vesicle (GO:0031982)				breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	52						GCCTTCACATCGCACTTGACT	0.483																																						ENST00000543257.1																			0				breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	52						c.(205-207)cGa>cAa		complement component 8, beta polypeptide							384	364	370					1																	57422471		2203	4300	6503	SO:0001583	missense	732				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	membrane attack complex		g.chr1:57422471C>T	M16973	CCDS30730.1, CCDS60151.1, CCDS60152.1	1p32.2	2014-09-17			ENSG00000021852	ENSG00000021852		"Complement system"	1353	protein-coding gene	gene with protein product		120960					Standard	NM_000066		Approved		uc001cyp.3	P07358	OTTHUMG00000008305	ENST00000371237.4:c.362G>A	1.37:g.57422471C>T	ENSP00000360281:p.Arg121Gln					C8B_ENST00000535057.1_Missense_Mutation_p.R59Q|C8B_ENST00000371237.4_Missense_Mutation_p.R121Q	p.R69Q	NM_001278543.1	NP_001265472.1	P07358	CO8B_HUMAN			4	772	-			121			TSP type-1 1.		A1L4K7	Missense_Mutation	SNP	ENST00000371237.4	37	c.206G>A	CCDS30730.1	.	.	.	.	.	.	.	.	.	.	C	16.73	3.205199	0.58234	.	.	ENSG00000021852	ENST00000371237;ENST00000543257;ENST00000535057	T;T;T	0.26660	1.89;1.91;1.72	5.41	0.924	0.19418	.	0.881848	0.09891	N	0.742380	T	0.19805	0.0476	N	0.10685	0.025	0.27071	N	0.963312	D;D;D	0.71674	0.995;0.995;0.998	P;P;P	0.59825	0.56;0.726;0.864	T	0.15809	-1.0424	10	0.10902	T	0.67	-2.2437	6.6327	0.22865	0.0:0.5496:0.1589:0.2915	.	69;59;121	F5H7G1;F5GY80;P07358	.;.;CO8B_HUMAN	Q	121;69;59	ENSP00000360281:R121Q;ENSP00000442548:R69Q;ENSP00000440113:R59Q	ENSP00000360281:R121Q	R	-	2	0	C8B	57195059	0.027000	0.19231	0.998000	0.56505	0.997000	0.91878	0.094000	0.15107	0.362000	0.24319	0.650000	0.86243	CGA		0.483	C8B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022886.2			49	255	0	0	0	1	0	49	255					T	57422471	C	T	57422471	3	4	286	1	0	0	0	0	1	0	0	0	2417	884	31	2	1453	2	C8B	1	57422471	Missense_Mutation	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	3694257	57422471	191828150	44	13174											
FGGY	55277	broad.mit.edu	37	chr1	60073488	60073488	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tttccagatcagcaaagaccCgatttttgtaccaggcgtct	10	12	8	11	2	2	2	1	0	1	2	3	3	3	2	3	1	2	2	3	1	2	4			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr1:60073488C>T	ENST00000303721.7	+	9	1091	c.917C>T	c.(916-918)cCg>cTg	p.P306L	FGGY_ENST00000371212.1_Missense_Mutation_p.P218L|FGGY_ENST00000371218.4_Missense_Mutation_p.P306L|FGGY_ENST00000474476.1_3'UTR|FGGY_ENST00000371210.1_Missense_Mutation_p.P7L	NM_018291.3	NP_060761.3	Q96C11	FGGY_HUMAN	FGGY carbohydrate kinase domain containing	306					carbohydrate metabolic process (GO:0005975)|cell death (GO:0008219)|neuron cellular homeostasis (GO:0070050)		kinase activity (GO:0016301)|phosphotransferase activity, alcohol group as acceptor (GO:0016773)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	22	all_cancers(7;7.36e-05)					AGCAAAGACCCGATTTTTGTA	0.458																																						ENST00000371218.4																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	22						c.(916-918)cCg>cTg		FGGY carbohydrate kinase domain containing							113	117	116					1																	60073488		2203	4300	6503	SO:0001583	missense	55277				carbohydrate metabolic process|cell death|neuron homeostasis		kinase activity|phosphotransferase activity, alcohol group as acceptor	g.chr1:60073488C>T		CCDS611.2, CCDS44155.1, CCDS58003.1, CCDS60155.1	1p32.1	2008-10-23			ENSG00000172456	ENSG00000172456			25610	protein-coding gene	gene with protein product		611370				17671248	Standard	NM_018291		Approved	FLJ10986	uc009wac.3	Q96C11	OTTHUMG00000008424	ENST00000303721.7:c.917C>T	1.37:g.60073488C>T	ENSP00000305922:p.Pro306Leu					FGGY_ENST00000371210.1_Missense_Mutation_p.P7L|FGGY_ENST00000474476.1_3'UTR|FGGY_ENST00000371212.1_Missense_Mutation_p.P218L|FGGY_ENST00000303721.7_Missense_Mutation_p.P306L	p.P306L	NM_001113411.1	NP_001106882.1	Q96C11	FGGY_HUMAN			9	1101	+	all_cancers(7;7.36e-05)		306					B1AK92|B1AK93|B1AK94|B2RDR8|D3DQ56|Q9HA63|Q9NV20	Missense_Mutation	SNP	ENST00000303721.7	37	c.917C>T	CCDS611.2	.	.	.	.	.	.	.	.	.	.	C	27.1	4.798632	0.90538	.	.	ENSG00000172456	ENST00000371218;ENST00000303721;ENST00000371212;ENST00000371210	D;D;D;D	0.88431	-2.38;-2.38;-2.38;-2.38	5.65	5.65	0.86999	Carbohydrate kinase, FGGY, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.92328	0.7566	L	0.58302	1.8	0.80722	D	1	D;P;P;D	0.61697	0.99;0.955;0.937;0.969	P;P;P;P	0.59546	0.859;0.532;0.614;0.745	D	0.90895	0.4764	9	.	.	.	-13.4029	18.6545	0.91445	0.0:1.0:0.0:0.0	.	306;218;306;306	Q96C11-3;B1AK94;F2Z2V1;Q96C11	.;.;.;FGGY_HUMAN	L	306;306;218;7	ENSP00000360262:P306L;ENSP00000305922:P306L;ENSP00000360256:P218L;ENSP00000360254:P7L	.	P	+	2	0	FGGY	59846076	1.000000	0.71417	0.985000	0.45067	0.995000	0.86356	6.409000	0.73289	2.941000	0.99782	0.655000	0.94253	CCG		0.458	FGGY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023210.2	NM_001113411		8	33	0	0	0	1	0	8	33					T	60073488	C	T	60073488	3	4	286	1	0	0	0	0	1	0	0	0	5871	652	23	2	947	2	FGGY	1	60073488	Missense_Mutation	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	2651017	60073488	189177133	45	13175											
CACHD1	57685	broad.mit.edu	37	chr1	65143972	65143972	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgggagccaaaagtccctacGttgatgacatgggagcaata	13	8	12	8	1	0	2	0	2	0	0	1	4	1	4	2	2	3	2	2	2	5	3	rs371572990		TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr1:65143972G>A	ENST00000371073.2	+	23	3223	c.3223G>A	c.(3223-3225)Gtt>Att	p.V1075I	CACHD1_ENST00000290039.5_Missense_Mutation_p.V1024I|CACHD1_ENST00000495994.1_3'UTR			Q5VU97	CAHD1_HUMAN	cache domain containing 1	1075					calcium ion transport (GO:0006816)	integral component of membrane (GO:0016021)				breast(4)|endometrium(3)|kidney(3)|large_intestine(20)|lung(14)|ovary(2)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						AAGTCCCTACGTTGATGACAT	0.448																																						ENST00000371073.2																			0				breast(4)|endometrium(3)|kidney(3)|large_intestine(20)|lung(14)|ovary(2)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						c.(3223-3225)Gtt>Att		cache domain containing 1		G	ILE/VAL	0,4406		0,0,2203	92	96	94		3070	4.3	0	1		94	1,8599	1.2+/-3.3	0,1,4299	no	missense	CACHD1	NM_020925.2	29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	1024/1224	65143972	1,13005	2203	4300	6503	SO:0001583	missense	57685				calcium ion transport	integral to membrane		g.chr1:65143972G>A	AB046793	CCDS628.2	1p31.3	2008-02-05	2005-10-11	2005-10-11	ENSG00000158966	ENSG00000158966			29314	protein-coding gene	gene with protein product			"von Willebrand factor type A and cache domain containing 1"	VWCD1		10997877	Standard	NM_020925		Approved	KIAA1573	uc001dbo.1	Q5VU97	OTTHUMG00000009030	ENST00000371073.2:c.3223G>A	1.37:g.65143972G>A	ENSP00000360113:p.Val1075Ile					CACHD1_ENST00000495994.1_3'UTR|CACHD1_ENST00000290039.5_Missense_Mutation_p.V1024I	p.V1075I			Q5VU97	CAHD1_HUMAN			23	3223	+			1075					Q49AE9|Q658T4|Q7Z3P2|Q9H7W4|Q9H9W3|Q9HCJ9	Missense_Mutation	SNP	ENST00000371073.2	37	c.3223G>A		.	.	.	.	.	.	.	.	.	.	G	12.49	1.954602	0.34471	0.0	1.16E-4	ENSG00000158966	ENST00000371073;ENST00000290039	T;T	0.22945	1.93;1.94	6.17	4.31	0.51392	.	0.215563	0.48767	N	0.000177	T	0.05090	0.0136	N	0.08118	0	0.37463	D	0.915299	B	0.10296	0.003	B	0.04013	0.001	T	0.21280	-1.0250	10	0.20046	T	0.44	-6.5353	13.0259	0.58814	0.1297:0.0:0.8703:0.0	.	1075	Q5VU97	CAHD1_HUMAN	I	1075;1024	ENSP00000360113:V1075I;ENSP00000290039:V1024I	ENSP00000290039:V1024I	V	+	1	0	CACHD1	64916560	1.000000	0.71417	0.023000	0.16930	0.993000	0.82548	5.468000	0.66743	0.938000	0.37419	0.655000	0.94253	GTT		0.448	CACHD1-201	KNOWN	basic	protein_coding	protein_coding		NM_020925		5	25	0	0	0	1	0	5	25					A	65143972	G	A	65143972	3	1	286	1	0	0	0	0	1	0	0	0	2537	1145	40	1	3160	1	CACHD1	1	65143972	Missense_Mutation	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	5070484	65143972	184106649	46	13176											
CACHD1	57685	broad.mit.edu	37	chr1	65147754	65147754	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagtccagaaagaaggcgccGctactggggtcgatcaggaa	12	5	14	10	3	1	2	1	0	0	2	3	4	2	3	2	4	1	1	2	4	4	1	rs371669378		TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr1:65147754G>A	ENST00000371073.2	+	26	3551	c.3551G>A	c.(3550-3552)cGc>cAc	p.R1184H	CACHD1_ENST00000290039.5_Missense_Mutation_p.R1133H|CACHD1_ENST00000495994.1_3'UTR			Q5VU97	CAHD1_HUMAN	cache domain containing 1	1184					calcium ion transport (GO:0006816)	integral component of membrane (GO:0016021)				breast(4)|endometrium(3)|kidney(3)|large_intestine(20)|lung(14)|ovary(2)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						AGAAGGCGCCGCTACTGGGGT	0.498																																						ENST00000371073.2																			0				breast(4)|endometrium(3)|kidney(3)|large_intestine(20)|lung(14)|ovary(2)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						c.(3550-3552)cGc>cAc		cache domain containing 1		G	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	120	107	112		3398	5.9	1	1		112	0,8600		0,0,4300	no	missense	CACHD1	NM_020925.2	29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	1133/1224	65147754	1,13005	2203	4300	6503	SO:0001583	missense	57685				calcium ion transport	integral to membrane		g.chr1:65147754G>A	AB046793	CCDS628.2	1p31.3	2008-02-05	2005-10-11	2005-10-11	ENSG00000158966	ENSG00000158966			29314	protein-coding gene	gene with protein product			"von Willebrand factor type A and cache domain containing 1"	VWCD1		10997877	Standard	NM_020925		Approved	KIAA1573	uc001dbo.1	Q5VU97	OTTHUMG00000009030	ENST00000371073.2:c.3551G>A	1.37:g.65147754G>A	ENSP00000360113:p.Arg1184His					CACHD1_ENST00000495994.1_3'UTR|CACHD1_ENST00000290039.5_Missense_Mutation_p.R1133H	p.R1184H			Q5VU97	CAHD1_HUMAN			26	3551	+			1184					Q49AE9|Q658T4|Q7Z3P2|Q9H7W4|Q9H9W3|Q9HCJ9	Missense_Mutation	SNP	ENST00000371073.2	37	c.3551G>A		.	.	.	.	.	.	.	.	.	.	G	34	5.386269	0.95967	2.27E-4	0.0	ENSG00000158966	ENST00000371073;ENST00000290039	T;T	0.24723	1.84;1.84	5.91	5.91	0.95273	.	0.046236	0.85682	D	0.000000	T	0.34106	0.0886	L	0.29908	0.895	0.80722	D	1	D	0.71674	0.998	D	0.72075	0.976	T	0.10291	-1.0636	10	0.66056	D	0.02	-29.7671	20.2985	0.98592	0.0:0.0:1.0:0.0	.	1184	Q5VU97	CAHD1_HUMAN	H	1184;1133	ENSP00000360113:R1184H;ENSP00000290039:R1133H	ENSP00000290039:R1133H	R	+	2	0	CACHD1	64920342	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	9.374000	0.97172	2.793000	0.96121	0.655000	0.94253	CGC		0.498	CACHD1-201	KNOWN	basic	protein_coding	protein_coding		NM_020925		5	42	0	0	0	1	0	5	42					A	65147754	G	A	65147754	3	1	286	1	0	0	0	0	1	0	0	0	2537	1087	38	1	3500	1	CACHD1	1	65147754	Missense_Mutation	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	3782	65147754	184102867	47	13177											
JAK1	3716	broad.mit.edu	37	chr1	65303716	65303716	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaattttcacttggtgttcActctcaacaaggacatttct	10	15	5	11	0	4	0	3	0	2	0	5	1	4	1	1	2	1	1	1	2	3	5			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr1:65303716A>G	ENST00000342505.4	-	22	3287	c.3039T>C	c.(3037-3039)agT>agC	p.S1013S		NM_002227.2	NP_002218.2	P23458	JAK1_HUMAN	Janus kinase 1	1013	Protein kinase 2. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cytokine-mediated signaling pathway (GO:0019221)|enzyme linked receptor protein signaling pathway (GO:0007167)|interferon-gamma-mediated signaling pathway (GO:0060333)|interleukin-2-mediated signaling pathway (GO:0038110)|intracellular signal transduction (GO:0035556)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to antibiotic (GO:0046677)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|growth hormone receptor binding (GO:0005131)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)			breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(48)|kidney(3)|large_intestine(8)|liver(2)|lung(19)|ovary(1)|prostate(12)|skin(1)|soft_tissue(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	120				BRCA - Breast invasive adenocarcinoma(111;0.0485)	Ruxolitinib(DB08877)|Tofacitinib(DB08895)	CTTGGTGTTCACTCTCAACAA	0.458			Mis		ALL																																	ENST00000342505.4				Dom	yes		1	1p32.3-p31.3	3716	Mis	Janus kinase 1			L			ALL		0				breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(48)|kidney(3)|large_intestine(8)|liver(2)|lung(19)|ovary(1)|prostate(12)|skin(1)|soft_tissue(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						c.(3037-3039)agT>agC		Janus kinase 1							89	80	83					1																	65303716		1895	4114	6009	SO:0001819	synonymous_variant	3716				interferon-gamma-mediated signaling pathway|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to antibiotic|type I interferon-mediated signaling pathway	cytoskeleton|cytosol|endomembrane system|membrane|nucleus	ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity	g.chr1:65303716A>G	M64174	CCDS41346.1	1p32.3-p31.3	2009-07-10	2009-04-23		ENSG00000162434	ENSG00000162434	2.7.10.1		6190	protein-coding gene	gene with protein product		147795		JAK1B		1848670, 7698020	Standard	NM_002227		Approved	JAK1A, JTK3	uc001dbu.1	P23458	OTTHUMG00000009310	ENST00000342505.4:c.3039T>C	1.37:g.65303716A>G							p.S1013S	NM_002227.2	NP_002218.2	P23458	JAK1_HUMAN		BRCA - Breast invasive adenocarcinoma(111;0.0485)	22	3287	-			1013			Protein kinase 2.		Q59GQ2|Q9UD26	Silent	SNP	ENST00000342505.4	37	c.3039T>C	CCDS41346.1																																																																																				0.458	JAK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025791.1	NM_002227		4	25	0	0	0	1	0	4	25					G	65303716	A	G	65303716	2	3	286	1	0	0	0	0	0	0	0	1	7937	156	6	4		4	JAK1	1	65303716	Silent	SNP	A	TCGA-J9-A52C-01A-11D-A26M-08	155962	65303716	183946905	48	13178											
ZRANB2	9406	broad.mit.edu	37	chr1	71536662	71536662	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttatattttgagagatcagcGtcatcttcatcctcatccta	10	16	5	10	1	5	2	4	1	1	1	7	3	7	2	2	0	1	0	2	0	3	6			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr1:71536662G>A	ENST00000370920.3	-	7	832	c.531C>T	c.(529-531)gaC>gaT	p.D177D	ZRANB2_ENST00000254821.6_Silent_p.D177D	NM_203350.2	NP_976225.1	O95218	ZRAB2_HUMAN	zinc finger, RAN-binding domain containing 2	177	Required for nuclear targeting.				mRNA processing (GO:0006397)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(4)|ovary(2)|stomach(1)	15						AGAGATCAGCGTCATCTTCAT	0.328																																						ENST00000370920.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(4)|ovary(2)|stomach(1)	15						c.(529-531)gaC>gaT		zinc finger, RAN-binding domain containing 2							98	100	100					1																	71536662		2203	4300	6503	SO:0001819	synonymous_variant	9406				mRNA processing|RNA splicing	nucleus	protein binding|RNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr1:71536662G>A	AF065391	CCDS659.1, CCDS660.1	1p31	2008-02-05	2006-06-28	2006-06-28	ENSG00000132485	ENSG00000132485		"Zinc fingers, RAN-binding domain containing"	13058	protein-coding gene	gene with protein product		604347	"zinc finger protein 265"	ZNF265		9931435	Standard	NM_005455		Approved	ZIS, ZIS1, ZIS2	uc001dft.3	O95218	OTTHUMG00000009660	ENST00000370920.3:c.531C>T	1.37:g.71536662G>A						ZRANB2_ENST00000254821.6_Silent_p.D177D	p.D177D	NM_203350.2	NP_976225.1	O95218	ZRAB2_HUMAN			7	832	-			177			Required for nuclear targeting.		D3DQ75|Q53GS3|Q59F92|Q5VV33|Q5VV34|Q8IXN6|Q9UP63	Silent	SNP	ENST00000370920.3	37	c.531C>T	CCDS659.1																																																																																				0.328	ZRANB2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000026636.1	NM_203350		3	10	0	0	0	1	0	3	10					A	71536662	G	A	71536662	2	1	286	1	0	0	0	0	0	0	0	1	18220	1136	40	1		1	ZRANB2	1	71536662	Silent	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	6232946	71536662	177713959	49	13179											
ASB17	127247	broad.mit.edu	37	chr1	76397716	76397716	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	acacatatttcagtgaagtcGaggttaaaacttacttcaaa	16	12	6	7	1	2	1	2	1	0	0	3	2	2	1	0	1	2	1	0	1	6	5	rs11811988	byFrequency	TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr1:76397716G>A	ENST00000284142.6	-	1	400	c.261C>T	c.(259-261)ctC>ctT	p.L87L		NM_080868.2	NP_543144.1	Q8WXJ9	ASB17_HUMAN	ankyrin repeat and SOCS box containing 17	87					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)					breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(11)|ovary(2)|urinary_tract(1)	21						CAGTGAAGTCGAGGTTAAAAC	0.378																																						ENST00000284142.6																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(11)|ovary(2)|urinary_tract(1)	21						c.(259-261)ctC>ctT		ankyrin repeat and SOCS box containing 17							108	102	104					1																	76397716		2203	4300	6503	SO:0001819	synonymous_variant	127247				intracellular signal transduction			g.chr1:76397716G>A	AF403035	CCDS671.1	1p22.3	2013-01-11	2011-01-25		ENSG00000154007	ENSG00000154007		"Ankyrin repeat domain containing"	19769	protein-coding gene	gene with protein product			"ankyrin repeat and SOCS box-containing 17"			12076535	Standard	NM_080868		Approved		uc001dhe.2	Q8WXJ9	OTTHUMG00000009787	ENST00000284142.6:c.261C>T	1.37:g.76397716G>A							p.L87L	NM_080868.2	NP_543144.1	Q8WXJ9	ASB17_HUMAN			1	400	-			87					B1APB8|Q8N0X5	Silent	SNP	ENST00000284142.6	37	c.261C>T	CCDS671.1																																																																																				0.378	ASB17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026982.1	NM_080868		10	28	0	0	0	1	0	10	28					A	76397716	G	A	76397716	2	1	286	1	0	0	0	0	0	0	0	1	1021	1045	37	2		2	ASB17	1	76397716	Silent	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	4861054	76397716	172852905	50	13180											
LRRC8D	55144	broad.mit.edu	37	chr1	90400389	90400389	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttgaatctctccgagagttgCggcaccttaagattctccac	9	12	8	12	2	2	3	0	1	2	2	5	4	3	3	3	1	1	2	3	1	2	4			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr1:90400389C>T	ENST00000337338.5	+	3	2169	c.1762C>T	c.(1762-1764)Cgg>Tgg	p.R588W	LRRC8D_ENST00000394593.3_Missense_Mutation_p.R588W	NM_001134479.1	NP_001127951.1	Q7L1W4	LRC8D_HUMAN	leucine rich repeat containing 8 family, member D	588					ion transport (GO:0006811)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(10)|ovary(2)|skin(1)	29		all_lung(203;0.0894)|Lung NSC(277;0.227)		all cancers(265;0.0109)|Epithelial(280;0.0427)		CCGAGAGTTGCGGCACCTTAA	0.398																																						ENST00000337338.5																			0				breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(10)|ovary(2)|skin(1)	29						c.(1762-1764)Cgg>Tgg		leucine rich repeat containing 8 family, member D							83	80	81					1																	90400389		2203	4300	6503	SO:0001583	missense	55144					integral to membrane	protein binding	g.chr1:90400389C>T	AK001332	CCDS726.1	1p22.2	2008-02-05	2005-06-29	2005-06-29	ENSG00000171492	ENSG00000171492			16992	protein-coding gene	gene with protein product		612890	"leucine rich repeat containing 5"	LRRC5			Standard	NM_018103		Approved	FLJ10470	uc001dnn.3	Q7L1W4	OTTHUMG00000010583	ENST00000337338.5:c.1762C>T	1.37:g.90400389C>T	ENSP00000338887:p.Arg588Trp					LRRC8D_ENST00000394593.3_Missense_Mutation_p.R588W	p.R588W	NM_001134479.1	NP_001127951.1	Q7L1W4	LRC8D_HUMAN		all cancers(265;0.0109)|Epithelial(280;0.0427)	3	2169	+		all_lung(203;0.0894)|Lung NSC(277;0.227)	588					D3DT29|Q6UWB2|Q9NVW3	Missense_Mutation	SNP	ENST00000337338.5	37	c.1762C>T	CCDS726.1	.	.	.	.	.	.	.	.	.	.	C	14.69	2.610253	0.46527	.	.	ENSG00000171492	ENST00000337338;ENST00000394593	T;T	0.25749	1.78;1.78	6.07	5.09	0.68999	.	0.000000	0.85682	D	0.000000	T	0.26304	0.0642	L	0.39898	1.24	0.58432	D	0.999995	D	0.71674	0.998	D	0.63793	0.918	T	0.02437	-1.1159	9	.	.	.	.	13.1861	0.59682	0.3277:0.6723:0.0:0.0	.	588	Q7L1W4	LRC8D_HUMAN	W	588	ENSP00000338887:R588W;ENSP00000378093:R588W	.	R	+	1	2	LRRC8D	90172977	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	2.975000	0.49281	1.500000	0.48636	0.655000	0.94253	CGG		0.398	LRRC8D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029203.2	NM_018103		5	41	0	0	0	1	0	5	41					T	90400389	C	T	90400389	3	4	286	1	0	0	0	0	1	0	0	0	9024	759	27	1	1764	1	LRRC8D	1	90400389	Missense_Mutation	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	14002673	90400389	158850232	51	13181											
AGL	178	broad.mit.edu	37	chr1	100346968	100346970	+	In_Frame_Del	DEL	CTT	CTT	-																															ccaggtgtgctatcagtaaaCttcatcaggagcttggagcc																										TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr1:100346968_100346970delCTT	ENST00000294724.4	+	16	2600_2602	c.2122_2124delCTT	c.(2122-2124)cttdel	p.L708del	AGL_ENST00000361302.3_In_Frame_Del_p.L692del|AGL_ENST00000361522.4_In_Frame_Del_p.L691del|AGL_ENST00000370163.3_In_Frame_Del_p.L708del|AGL_ENST00000370165.3_In_Frame_Del_p.L708del|AGL_ENST00000370161.2_In_Frame_Del_p.L692del|AGL_ENST00000361915.3_In_Frame_Del_p.L708del	NM_000028.2	NP_000019.2	P35573	GDE_HUMAN	amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase	708					carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|glycogen catabolic process (GO:0005980)|response to glucocorticoid (GO:0051384)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|inclusion body (GO:0016234)|isoamylase complex (GO:0043033)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)	4-alpha-glucanotransferase activity (GO:0004134)|amylo-alpha-1,6-glucosidase activity (GO:0004135)|glycogen debranching enzyme activity (GO:0004133)|polysaccharide binding (GO:0030247)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(9)|lung(35)|ovary(1)|prostate(4)|skin(3)|urinary_tract(1)	69		all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131)		Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237)		TATCAGTAAACTTCATCAGGAGC	0.394																																						ENST00000294724.4																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(9)|lung(35)|ovary(1)|prostate(4)|skin(3)|urinary_tract(1)	69						c.(2122-2124)del		amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase																																				SO:0001651	inframe_deletion	178				glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol|isoamylase complex|nucleus	4-alpha-glucanotransferase activity|amylo-alpha-1,6-glucosidase activity|cation binding	g.chr1:100346968_100346970delCTT	BC078663	CCDS759.1, CCDS760.1, CCDS761.1	1p21	2010-04-27	2010-04-27		ENSG00000162688	ENSG00000162688	2.4.1.25, 3.2.1.33		321	protein-coding gene	gene with protein product	"glycogen debranching enzyme", "glycogen storage disease type III"	610860	"amylo-1, 6-glucosidase, 4-alpha-glucanotransferase"			1505983	Standard	NM_000028		Approved		uc001dsi.1	P35573	OTTHUMG00000010803	ENST00000294724.4:c.2122_2124delCTT	1.37:g.100346968_100346970delCTT	ENSP00000294724:p.Leu708del					AGL_ENST00000370161.2_In_Frame_Del_p.L692del|AGL_ENST00000370163.3_In_Frame_Del_p.L708del|AGL_ENST00000361302.3_In_Frame_Del_p.L692del|AGL_ENST00000361522.4_In_Frame_Del_p.L691del|AGL_ENST00000361915.3_In_Frame_Del_p.L708del|AGL_ENST00000370165.3_In_Frame_Del_p.L708del	p.L708del	NM_000028.2	NP_000019.2	P35573	GDE_HUMAN		Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237)	16	2600_2602	+		all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131)	708					A6NCX7|A6NEK2|D3DT51|P78354|P78544|Q59H92|Q6AZ90|Q9UF08	In_Frame_Del	DEL	ENST00000294724.4	37	c.2122_2124delCTT	CCDS759.1																																																																																				0.394	AGL-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029778.1	NM_000028		12	99						12	99	---	---	---	---	-	100346970	CTT	-	100346968	7	5	286	1	0	1	0	1	0	0	0	0	384	565	20	0	2249	0	AGL	1	100346968	In_Frame_Del	DEL	CTT	TCGA-J9-A52C-01A-11D-A26M-08	9946579	100346968	148903653	52	13182											
PSRC1	84722	broad.mit.edu	37	chr1	109823608	109823608	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccctgcggccggggcaggCgttgagagttgctggtagaa	6	8	17	10	3	0	2	0	1	0	2	1	3	1	2	2	5	2	5	2	5	2	3			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr1:109823608C>T	ENST00000438534.2	-	5	923	c.785G>A	c.(784-786)cGc>cAc	p.R262H	PSRC1_ENST00000369904.3_Intron|PSRC1_ENST00000369903.2_Missense_Mutation_p.R232H|PSRC1_ENST00000409138.2_Missense_Mutation_p.R262H|PSRC1_ENST00000369907.3_Missense_Mutation_p.R232H|PSRC1_ENST00000369909.2_Missense_Mutation_p.R232H|PSRC1_ENST00000409267.1_Missense_Mutation_p.R232H	NM_001005290.3	NP_001005290.1	Q6PGN9	PSRC1_HUMAN	proline/serine-rich coiled-coil 1	262	Pro/Ser-rich.				microtubule bundle formation (GO:0001578)|mitotic metaphase plate congression (GO:0007080)|negative regulation of cell growth (GO:0030308)|positive regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045737)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of mitotic spindle organization (GO:0060236)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle (GO:0005819)	microtubule binding (GO:0008017)			endometrium(1)|large_intestine(1)|lung(2)|prostate(2)|skin(1)	7		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0286)|Lung(183;0.0658)|COAD - Colon adenocarcinoma(174;0.112)|Epithelial(280;0.188)|all cancers(265;0.213)		CCGGGGCAGGCGTTGAGAGTT	0.637																																						ENST00000438534.2																			0				endometrium(1)|large_intestine(1)|lung(2)|prostate(2)|skin(1)	7						c.(784-786)cGc>cAc		proline/serine-rich coiled-coil 1							40	44	43					1																	109823608		2203	4300	6503	SO:0001583	missense	84722				cell division|microtubule bundle formation|mitotic metaphase plate congression|negative regulation of cell growth|positive regulation of microtubule polymerization|positive regulation of transcription, DNA-dependent|regulation of mitotic spindle organization	cytosol|midbody|spindle pole	microtubule binding	g.chr1:109823608C>T		CCDS797.1, CCDS30791.1	1p13.3	2008-02-05			ENSG00000134222	ENSG00000134222			24472	protein-coding gene	gene with protein product	"differential display and activated by p53"	613126				12427559, 10618717	Standard	NM_001032291		Approved	DDA3	uc001dxd.3	Q6PGN9	OTTHUMG00000012000	ENST00000438534.2:c.785G>A	1.37:g.109823608C>T	ENSP00000413591:p.Arg262His					PSRC1_ENST00000369909.2_Missense_Mutation_p.R232H|PSRC1_ENST00000369904.3_Intron|PSRC1_ENST00000369907.3_Missense_Mutation_p.R232H|PSRC1_ENST00000369903.2_Missense_Mutation_p.R232H|PSRC1_ENST00000409138.2_Missense_Mutation_p.R262H|PSRC1_ENST00000409267.1_Missense_Mutation_p.R232H	p.R262H	NM_001005290.3	NP_001005290.1	Q6PGN9	PSRC1_HUMAN		Colorectal(144;0.0286)|Lung(183;0.0658)|COAD - Colon adenocarcinoma(174;0.112)|Epithelial(280;0.188)|all cancers(265;0.213)	5	923	-		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)	262			Pro/Ser-rich.		Q5T2Z3|Q6ZTI8|Q71MG3|Q9BV77	Missense_Mutation	SNP	ENST00000438534.2	37	c.785G>A		.	.	.	.	.	.	.	.	.	.	C	19.30	3.801204	0.70567	.	.	ENSG00000134222	ENST00000409267;ENST00000369907;ENST00000438534;ENST00000369909;ENST00000369903	T;T;T;T;T	0.53206	0.66;0.66;0.63;0.66;0.66	6.17	4.3	0.51218	.	0.229124	0.38326	N	0.001727	T	0.16128	0.0388	L	0.32530	0.975	0.28123	N	0.930528	B;B;B	0.24651	0.108;0.061;0.045	B;B;B	0.16722	0.016;0.016;0.011	T	0.07121	-1.0789	9	.	.	.	2.7031	10.0245	0.42063	0.0:0.8414:0.0:0.1586	.	262;232;232	Q6PGN9;Q6PGN9-2;A8K0M8	PSRC1_HUMAN;.;.	H	232;232;262;232;232	ENSP00000386323:R232H;ENSP00000358923:R232H;ENSP00000413591:R262H;ENSP00000358925:R232H;ENSP00000358919:R232H	.	R	-	2	0	PSRC1	109625131	0.996000	0.38824	0.987000	0.45799	0.653000	0.38743	2.343000	0.44001	1.630000	0.50440	0.655000	0.94253	CGC		0.637	PSRC1-202	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000335567.3	NM_032636		17	48	0	0	0	1	0	17	48					T	109823608	C	T	109823608	3	4	286	1	0	0	0	0	1	0	0	0	12719	768	27	1	350	1	PSRC1	1	109823608	Missense_Mutation	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	9476640	109823608	139427013	53	13183											
SLC6A17	388662	broad.mit.edu	37	chr1	110738255	110738255	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tggggctgttgttcgtccagCgctccggaaactactttgtc	5	13	12	11	3	0	0	0	0	0	0	4	1	2	1	2	3	3	4	2	3	2	4			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr1:110738255C>T	ENST00000331565.4	+	10	2025	c.1540C>T	c.(1540-1542)Cgc>Tgc	p.R514C		NM_001010898.2	NP_001010898.1	Q9H1V8	S6A17_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 17	514					alanine transport (GO:0032328)|glycine transport (GO:0015816)|leucine transport (GO:0015820)|neutral amino acid transport (GO:0015804)|proline transport (GO:0015824)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|synaptic vesicle (GO:0008021)	neurotransmitter:sodium symporter activity (GO:0005328)	p.F511_R514del(1)|p.R514C(1)		breast(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	37		all_cancers(81;9.9e-06)|all_epithelial(167;3.24e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0282)|Epithelial(280;0.0372)|all cancers(265;0.0378)|Colorectal(144;0.0438)|LUSC - Lung squamous cell carcinoma(189;0.151)|COAD - Colon adenocarcinoma(174;0.151)		GTTCGTCCAGCGCTCCGGAAA	0.582																																						ENST00000331565.4																			2	Substitution - Missense(1)|Deletion - In frame(1)	p.F511_R514del(1)|p.R514C(1)	ovary(1)|breast(1)	breast(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	37						c.(1540-1542)Cgc>Tgc		solute carrier family 6 (neutral amino acid transporter), member 17							106	90	95					1																	110738255		2203	4300	6503	SO:0001583	missense	388662				alanine transport|glycine transport|leucine transport|proline transport	cell junction|integral to plasma membrane|synaptic vesicle membrane	neurotransmitter:sodium symporter activity	g.chr1:110738255C>T		CCDS30799.1	1p13.2	2013-07-19	2013-07-19		ENSG00000197106	ENSG00000197106		"Solute carriers"	31399	protein-coding gene	gene with protein product		610299	"solute carrier family 6 (neurotransmitter transporter), member 17", "solute carrier family 6, member 17"				Standard	NM_001010898		Approved		uc009wfq.3	Q9H1V8	OTTHUMG00000011761	ENST00000331565.4:c.1540C>T	1.37:g.110738255C>T	ENSP00000330199:p.Arg514Cys						p.R514C	NM_001010898.2	NP_001010898.1	Q9H1V8	S6A17_HUMAN		Lung(183;0.0282)|Epithelial(280;0.0372)|all cancers(265;0.0378)|Colorectal(144;0.0438)|LUSC - Lung squamous cell carcinoma(189;0.151)|COAD - Colon adenocarcinoma(174;0.151)	10	2025	+		all_cancers(81;9.9e-06)|all_epithelial(167;3.24e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)	514					A6NEA8|A8K1R7|B9EIR5|Q5T5Q9	Missense_Mutation	SNP	ENST00000331565.4	37	c.1540C>T	CCDS30799.1	.	.	.	.	.	.	.	.	.	.	C	29.0	4.969643	0.92855	.	.	ENSG00000197106	ENST00000331565;ENST00000450985	T	0.75367	-0.93	5.65	5.65	0.86999	.	0.051032	0.85682	D	0.000000	D	0.86879	0.6039	M	0.85777	2.775	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.87761	0.2598	10	0.66056	D	0.02	.	19.6999	0.96048	0.0:1.0:0.0:0.0	.	514	Q9H1V8	S6A17_HUMAN	C	514	ENSP00000330199:R514C	ENSP00000330199:R514C	R	+	1	0	SLC6A17	110539778	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.922000	0.70036	2.657000	0.90304	0.655000	0.94253	CGC		0.582	SLC6A17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032550.2	XM_371280		8	52	0	0	0	1	0	8	52					T	110738255	C	T	110738255	3	4	286	1	0	0	0	0	1	0	0	0	14680	768	27	1	1574	1	SLC6A17	1	110738255	Missense_Mutation	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	914647	110738255	138512366	54	13184											
RHOC	389	broad.mit.edu	37	chr1	113246352	113246352	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaactgatccttgctgaagaCgatgaggaggcaggtcttcc	11	9	12	9	1	1	4	0	3	1	1	3	6	3	5	2	3	2	2	2	3	2	2			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr1:113246352C>T	ENST00000285735.2	-	3	1279	c.70G>A	c.(70-72)Gtc>Atc	p.V24I	RHOC_ENST00000369637.1_Missense_Mutation_p.V24I|RHOC_ENST00000339083.7_Missense_Mutation_p.V24I|RHOC_ENST00000369636.2_Missense_Mutation_p.V24I|RP11-426L16.10_ENST00000606505.1_Missense_Mutation_p.R187H|RHOC_ENST00000369642.3_Missense_Mutation_p.V24I|RHOC_ENST00000369632.2_Missense_Mutation_p.V24I|RHOC_ENST00000369633.2_Missense_Mutation_p.V24I|RP11-426L16.10_ENST00000471038.2_5'UTR|RHOC_ENST00000369638.2_Missense_Mutation_p.V24I			P08134	RHOC_HUMAN	ras homolog family member C	24					apical junction assembly (GO:0043297)|axon guidance (GO:0007411)|cytokinesis (GO:0000910)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cleavage furrow (GO:0032154)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|signal transducer activity (GO:0004871)			endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	9	Lung SC(450;0.246)	all_cancers(81;1.44e-07)|all_epithelial(167;7.64e-07)|all_lung(203;2.16e-05)|Lung NSC(69;3.86e-05)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TTGCTGAAGACGATGAGGAGG	0.537																																						ENST00000285735.2																			0				endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	9						c.(70-72)Gtc>Atc		ras homolog family member C							92	71	79					1																	113246352		2203	4300	6503	SO:0001583	missense	389				axon guidance|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding|GTPase activity|signal transducer activity	g.chr1:113246352C>T	BC052808	CCDS854.1	1p13.1	2012-02-27	2012-02-27	2004-03-24	ENSG00000155366	ENSG00000155366			669	protein-coding gene	gene with protein product		165380	"ras homolog gene family, member C"	ARH9, ARHC		3283705	Standard	NM_001042678		Approved	RhoC	uc001ecp.1	P08134	OTTHUMG00000011905	ENST00000285735.2:c.70G>A	1.37:g.113246352C>T	ENSP00000285735:p.Val24Ile					RHOC_ENST00000369642.3_Missense_Mutation_p.V24I|RHOC_ENST00000369633.2_Missense_Mutation_p.V24I|RP11-426L16.10_ENST00000606505.1_Missense_Mutation_p.R187H|RHOC_ENST00000339083.7_Missense_Mutation_p.V24I|RHOC_ENST00000369636.2_Missense_Mutation_p.V24I|RHOC_ENST00000369632.2_Missense_Mutation_p.V24I|RP11-426L16.10_ENST00000471038.2_5'UTR|RHOC_ENST00000369637.1_Missense_Mutation_p.V24I|RHOC_ENST00000369638.2_Missense_Mutation_p.V24I	p.V24I			P08134	RHOC_HUMAN		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	3	1279	-	Lung SC(450;0.246)	all_cancers(81;1.44e-07)|all_epithelial(167;7.64e-07)|all_lung(203;2.16e-05)|Lung NSC(69;3.86e-05)	24					B3KSW1|Q6ICN3	Missense_Mutation	SNP	ENST00000285735.2	37	c.70G>A	CCDS854.1	.	.	.	.	.	.	.	.	.	.	C	24.1	4.491872	0.84962	.	.	ENSG00000155366	ENST00000339083;ENST00000369633;ENST00000369642;ENST00000285735;ENST00000369638;ENST00000369637;ENST00000369636;ENST00000369632;ENST00000484054;ENST00000425265;ENST00000534717;ENST00000436685;ENST00000414971	T;T;T;T;T;T;T;T;T;T;T;T;T	0.69926	-0.44;-0.44;-0.44;-0.44;-0.44;-0.44;-0.44;-0.44;-0.44;-0.44;-0.44;-0.44;-0.44	5.27	5.27	0.74061	Small GTP-binding protein domain (1);	0.000000	0.44902	D	0.000409	T	0.65217	0.2670	M	0.84219	2.685	0.80722	D	1	B	0.12013	0.005	B	0.26864	0.074	T	0.68093	-0.5500	10	0.72032	D	0.01	-12.4432	18.4903	0.90844	0.0:1.0:0.0:0.0	.	24	P08134	RHOC_HUMAN	I	24;24;24;24;24;24;24;24;61;24;24;24;24	ENSP00000345236:V24I;ENSP00000358647:V24I;ENSP00000358656:V24I;ENSP00000285735:V24I;ENSP00000358652:V24I;ENSP00000358651:V24I;ENSP00000358650:V24I;ENSP00000358646:V24I;ENSP00000434877:V61I;ENSP00000390823:V24I;ENSP00000436240:V24I;ENSP00000399424:V24I;ENSP00000395791:V24I	ENSP00000285735:V24I	V	-	1	0	RHOC	113047875	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.818000	0.86416	2.468000	0.83385	0.462000	0.41574	GTC		0.537	RHOC-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032904.2	NM_175744		4	20	0	0	0	1	0	4	20					T	113246352	C	T	113246352	3	4	286	1	0	0	0	0	1	0	0	0	13336	536	19	1	527	1	RHOC	1	113246352	Missense_Mutation	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	2508097	113246352	136004269	55	13185											
TBX15	6913	broad.mit.edu	37	chr1	119427785	119427785	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caccgtaggcttccatcttgCtgttgccaggcaacgaggga	8	9	12	12	2	1	0	0	0	1	0	2	2	2	1	3	3	3	5	3	3	2	4			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr1:119427785C>T	ENST00000369429.3	-	8	1388	c.1379G>A	c.(1378-1380)aGc>aAc	p.S460N	TBX15_ENST00000207157.3_Missense_Mutation_p.S354N			Q96SF7	TBX15_HUMAN	T-box 15	460					embryonic cranial skeleton morphogenesis (GO:0048701)	Tle3-Aes complex (GO:0070722)	RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(19)|ovary(1)|pancreas(1)|skin(5)	37	all_neural(166;0.117)	all_cancers(81;0.000692)|all_lung(203;3.05e-06)|Lung NSC(69;2.13e-05)|all_epithelial(167;0.000237)		Lung(183;0.044)|LUSC - Lung squamous cell carcinoma(189;0.141)		TTCCATCTTGCTGTTGCCAGG	0.567																																						ENST00000369429.3																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(19)|ovary(1)|pancreas(1)|skin(5)	37						c.(1378-1380)aGc>aAc		T-box 15							69	62	64					1																	119427785		2203	4300	6503	SO:0001583	missense	6913					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr1:119427785C>T	AK127536	CCDS30816.1	1p11.1	2008-02-05	2004-10-05		ENSG00000092607	ENSG00000092607		"T-boxes"	11594	protein-coding gene	gene with protein product		604127	"T-box 14"	TBX14		9693034	Standard	XM_005271162		Approved		uc001ehl.1	Q96SF7	OTTHUMG00000012263	ENST00000369429.3:c.1379G>A	1.37:g.119427785C>T	ENSP00000358437:p.Ser460Asn					TBX15_ENST00000207157.3_Missense_Mutation_p.S354N	p.S460N			Q96SF7	TBX15_HUMAN		Lung(183;0.044)|LUSC - Lung squamous cell carcinoma(189;0.141)	8	1388	-	all_neural(166;0.117)	all_cancers(81;0.000692)|all_lung(203;3.05e-06)|Lung NSC(69;2.13e-05)|all_epithelial(167;0.000237)	460					Q08E76|Q5JT54|Q5T9S7	Missense_Mutation	SNP	ENST00000369429.3	37	c.1379G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.77|11.77	1.738892|1.738892	0.30774|0.30774	.|.	.|.	ENSG00000092607|ENSG00000092607	ENST00000393149|ENST00000344218;ENST00000207157;ENST00000369429;ENST00000449873	.|D;D;T	.|0.87650	.|-2.28;-2.16;-1.09	5.31|5.31	4.39|4.39	0.52855|0.52855	.|.	.|0.588253	.|0.18740	.|N	.|0.132485	T|T	0.54822|0.54822	0.1882|0.1882	N|N	0.02539|0.02539	-0.55|-0.55	0.48288|0.48288	D|D	0.999621|0.999621	.|P;B	.|0.35174	.|0.488;0.134	.|B;B	.|0.32211	.|0.142;0.07	T|T	0.62072|0.62072	-0.6931|-0.6931	6|10	0.11485|0.15952	T|T	0.65|0.53	.|.	15.674|15.674	0.77300|0.77300	0.0:0.8511:0.1489:0.0|0.0:0.8511:0.1489:0.0	.|.	.|257;460	.|E9PCG3;Q96SF7	.|.;TBX15_HUMAN	T|N	186|257;354;460;188	.|ENSP00000207157:S354N;ENSP00000358437:S460N;ENSP00000398625:S188N	ENSP00000376856:A186T|ENSP00000207157:S354N	A|S	-|-	1|2	0|0	TBX15|TBX15	119229308|119229308	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.934000|0.934000	0.57294|0.57294	3.205000|3.205000	0.51090|0.51090	1.446000|1.446000	0.47643|0.47643	0.561000|0.561000	0.74099|0.74099	GCA|AGC		0.567	TBX15-002	PUTATIVE	not_organism_supported|upstream_ATG|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000034351.1	NM_152380		6	62	0	0	0	1	0	6	62					T	119427785	C	T	119427785	3	4	286	1	0	0	0	0	1	0	0	0	15649	797	28	3	433	3	TBX15	1	119427785	Missense_Mutation	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	6181433	119427785	129822836	56	13186											
PRPF3	9129	broad.mit.edu	37	chr1	150297487	150297487	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgggtttctcagagcctacGgtggtcacagcagcattgaa	9	10	12	10	1	2	2	2	1	1	1	3	2	2	2	1	3	4	3	1	3	2	3			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr1:150297487G>A	ENST00000324862.6	+	2	252	c.87G>A	c.(85-87)acG>acA	p.T29T	PRPF3_ENST00000414970.2_Silent_p.T29T|PRPF3_ENST00000543398.1_De_novo_Start_InFrame	NM_004698.2	NP_004689.1	O43395	PRPF3_HUMAN	pre-mRNA processing factor 3	29	PWI. {ECO:0000255|PROSITE- ProRule:PRU00627}.				mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	Cajal body (GO:0015030)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U4/U6 x U5 tri-snRNP complex (GO:0046540)	identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)			breast(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Lung NSC(24;5.57e-29)|Breast(34;0.000844)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)	Colorectal(1306;0.0149)		CAGAGCCTACGGTGGTCACAG	0.478																																					Ovarian(168;1070 2670 5178 20729)	ENST00000543398.1																			0				breast(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21								pre-mRNA processing factor 3							149	137	141					1																	150297487		2203	4300	6503	SO:0001819	synonymous_variant	9129				nuclear mRNA splicing, via spliceosome	Cajal body|cytoplasm|nuclear speck|spliceosomal complex	protein binding	g.chr1:150297487G>A	AF001947	CCDS951.1	1q21.1	2013-07-16	2013-06-10		ENSG00000117360	ENSG00000117360			17348	protein-coding gene	gene with protein product		607301	"retinitis pigmentosa 18 (autosomal dominant)", "PRP3 pre-mRNA processing factor 3 homolog (yeast)", "PRP3 pre-mRNA processing factor 3 homolog (S. cerevisiae)"	RP18			Standard	NM_004698		Approved	Prp3, hPrp3, SNRNP90	uc001eum.4	O43395	OTTHUMG00000012807	ENST00000324862.6:c.87G>A	1.37:g.150297487G>A						PRPF3_ENST00000414970.2_Silent_p.T29T|PRPF3_ENST00000324862.6_Silent_p.T29T				O43395	PRPF3_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)	Colorectal(1306;0.0149)	0	175	+	Lung NSC(24;5.57e-29)|Breast(34;0.000844)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Colorectal(459;0.171)							B4DSY9|O43446|Q5VT54	Translation_Start_Site	SNP	ENST00000324862.6	37		CCDS951.1																																																																																				0.478	PRPF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000035836.1	NM_004698		17	64	0	0	0	1	0	17	64					A	150297487	G	A	150297487	2	1	286	1	0	0	0	0	0	0	0	1	12565	1103	39	2		2	PRPF3	1	150297487	Silent	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	30869702	150297487	98953134	57	13187											
SEMA6C	10500	broad.mit.edu	37	chr1	151109506	151109506	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccaaggcccgaggcgagccGcccatgtcacgtttacatac	9	7	10	15	4	1	0	1	0	0	0	2	2	2	0	4	2	3	1	4	2	3	3	rs377555884		TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr1:151109506G>A	ENST00000341697.3	-	11	2492	c.801C>T	c.(799-801)ggC>ggT	p.G267G				Q9H3T2	SEM6C_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6C	267	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	28	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			GAGGCGAGCCGCCCATGTCAC	0.567																																						ENST00000341697.3																			0				central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	28						c.(799-801)ggC>ggT		sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6C		G	,,	1,4405	2.1+/-5.4	0,1,2202	80	84	82		801,681,801	-9.4	0.7	1		82	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous	SEMA6C	NM_001178061.1,NM_001178062.1,NM_030913.4	,,	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	,,	267/963,227/923,267/931	151109506	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	10500					integral to membrane	receptor activity	g.chr1:151109506G>A	AF339154	CCDS984.1, CCDS53363.1, CCDS53364.1	1q21.2	2008-02-05			ENSG00000143434	ENSG00000143434		"Semaphorins"	10740	protein-coding gene	gene with protein product	"m-Sema Y2"	609294				12110693	Standard	NM_030913		Approved	KIAA1869	uc001ewv.3	Q9H3T2	OTTHUMG00000012261	ENST00000341697.3:c.801C>T	1.37:g.151109506G>A							p.G267G			Q9H3T2	SEM6C_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)		11	2492	-	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		267			Sema.		D3DV15|Q5JR71|Q5JR72|Q5JR73|Q8WXT8|Q8WXT9|Q8WXU0|Q96JF8	Silent	SNP	ENST00000341697.3	37	c.801C>T	CCDS984.1																																																																																				0.567	SEMA6C-004	KNOWN	alternative_5_UTR|mRNA_start_NF|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000034074.1	NM_030913		18	113	0	0	0	1	0	18	113					A	151109506	G	A	151109506	2	1	286	1	0	0	0	0	0	0	0	1	14041	1074	38	1		1	SEMA6C	1	151109506	Silent	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	812019	151109506	98141115	58	13188											
PSMD4	5710	broad.mit.edu	37	chr1	151234660	151234660	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggacaacagtgagtatatgcGgaatggagacttcttaccca	13	9	11	8	1	1	2	0	1	1	1	1	5	1	4	1	3	3	1	1	3	5	4			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr1:151234660G>A	ENST00000368884.3	+	2	130	c.50G>A	c.(49-51)cGg>cAg	p.R17Q	PSMD4_ENST00000368881.4_Missense_Mutation_p.R17Q	NM_002810.2	NP_002801.1	P55036	PSMD4_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 4	17	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)|proteasome regulatory particle, base subcomplex (GO:0008540)	identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(1)|kidney(1)|lung(7)	11	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			GAGTATATGCGGAATGGAGAC	0.493																																						ENST00000368884.3																			0				breast(2)|endometrium(1)|kidney(1)|lung(7)	11						c.(49-51)cGg>cAg		proteasome (prosome, macropain) 26S subunit, non-ATPase, 4							109	100	103					1																	151234660		2203	4300	6503	SO:0001583	missense	5710				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of transcription, DNA-dependent|S phase of mitotic cell cycle|viral reproduction	proteasome complex	protein binding|zinc ion binding	g.chr1:151234660G>A	U51007	CCDS991.1	1q21.2	2008-05-22			ENSG00000159352	ENSG00000159352		"Proteasome (prosome, macropain) subunits"	9561	protein-coding gene	gene with protein product		601648				8641424	Standard	XM_005245354		Approved	S5A, AF-1, AF, Rpn10	uc001exl.3	P55036	OTTHUMG00000012349	ENST00000368884.3:c.50G>A	1.37:g.151234660G>A	ENSP00000357879:p.Arg17Gln					PSMD4_ENST00000368881.4_Missense_Mutation_p.R17Q	p.R17Q	NM_002810.2	NP_002801.1	P55036	PSMD4_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)		2	130	+	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		17			VWFA.		D3DV16|Q5VWC5|Q9NS92	Missense_Mutation	SNP	ENST00000368884.3	37	c.50G>A	CCDS991.1	.	.	.	.	.	.	.	.	.	.	G	34	5.306186	0.95629	.	.	ENSG00000159352	ENST00000368884;ENST00000368881;ENST00000437736	T;T;T	0.14022	2.54;2.54;2.54	4.35	4.35	0.52113	Ssl1-like (1);von Willebrand factor, type A (2);	0.000000	0.64402	D	0.000019	T	0.36468	0.0968	M	0.92604	3.325	0.52501	D	0.999958	D;D	0.71674	0.998;0.994	D;D	0.71414	0.973;0.973	T	0.46555	-0.9183	10	0.54805	T	0.06	-9.4261	13.9142	0.63887	0.0:0.0:1.0:0.0	.	17;17	Q5VWC4;P55036	.;PSMD4_HUMAN	Q	17;17;2	ENSP00000357879:R17Q;ENSP00000357876:R17Q;ENSP00000414499:R2Q	ENSP00000357876:R17Q	R	+	2	0	PSMD4	149501284	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	8.991000	0.93514	2.256000	0.74724	0.484000	0.47621	CGG		0.493	PSMD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034409.3	NM_002810		12	66	0	0	0	1	0	12	66					A	151234660	G	A	151234660	3	1	286	1	0	0	0	0	1	0	0	0	12700	1116	39	2	56	2	PSMD4	1	151234660	Missense_Mutation	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	125154	151234660	98015961	59	13189											
CRTC2	200186	broad.mit.edu	37	chr1	153920995	153920995	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggtcaagttctggtggttGaaggtgtggggatcctgggg	5	12	20	4	0	2	1	1	1	1	0	3	2	3	2	1	8	0	2	1	8	2	2			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr1:153920995G>T	ENST00000368633.1	-	13	1927	c.1800C>A	c.(1798-1800)ttC>ttA	p.F600L	DENND4B_ENST00000361217.4_5'Flank|CRTC2_ENST00000368630.3_Missense_Mutation_p.F280L	NM_181715.2	NP_859066.1	Q53ET0	CRTC2_HUMAN	CREB regulated transcription coactivator 2	600					gluconeogenesis (GO:0006094)|glucose homeostasis (GO:0042593)|histone H3-K9 acetylation (GO:0043970)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein homotetramerization (GO:0051289)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	cAMP response element binding protein binding (GO:0008140)			NS(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)	27	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			TCTGGTGGTTGAAGGTGTGGG	0.592																																						ENST00000368633.1																			0				NS(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)	27						c.(1798-1800)ttC>ttA		CREB regulated transcription coactivator 2							134	122	126					1																	153920995		2203	4300	6503	SO:0001583	missense	200186				interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	protein binding	g.chr1:153920995G>T	AY360172	CCDS30875.1	1q21.3	2008-02-05			ENSG00000160741	ENSG00000160741			27301	protein-coding gene	gene with protein product		608972				14506290, 14536081	Standard	NM_181715		Approved	TORC2	uc021pab.1	Q53ET0	OTTHUMG00000037156	ENST00000368633.1:c.1800C>A	1.37:g.153920995G>T	ENSP00000357622:p.Phe600Leu					CRTC2_ENST00000368630.3_Missense_Mutation_p.F280L	p.F600L	NM_181715.2	NP_859066.1	Q53ET0	CRTC2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.151)		13	1927	-	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		600					Q6UUV8|Q7Z3X7|Q8N332	Missense_Mutation	SNP	ENST00000368633.1	37	c.1800C>A	CCDS30875.1	.	.	.	.	.	.	.	.	.	.	G	0.366	-0.936807	0.02340	.	.	ENSG00000160741	ENST00000368630;ENST00000368633	T;T	0.36699	1.24;3.03	4.85	3.92	0.45320	.	0.079879	0.50627	N	0.000103	T	0.03136	0.0092	N	0.01352	-0.895	0.22001	N	0.999422	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.42849	-0.9427	10	0.02654	T	1	-7.3105	11.5262	0.50582	0.0:0.3504:0.6495:0.0	.	600;280	Q53ET0;Q5T4K5	CRTC2_HUMAN;.	L	280;600	ENSP00000357619:F280L;ENSP00000357622:F600L	ENSP00000357619:F280L	F	-	3	2	CRTC2	152187619	1.000000	0.71417	0.997000	0.53966	0.777000	0.43975	4.192000	0.58378	1.259000	0.44117	-0.537000	0.04273	TTC		0.592	CRTC2-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090272.3	NM_181715		6	50	1	0	0.00198382	1	0.00199479	6	50					T	153920995	G	T	153920995	3	4	286	1	0	0	0	0	1	0	0	0	3900	1281	45	5	289	5	CRTC2	1	153920995	Missense_Mutation	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	2686335	153920995	95329626	60	13190											
ADAR	103	broad.mit.edu	37	chr1	154557716	154557716	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccacagtgcctctggtaccGtccaggatctccaggtcata	8	10	9	14	1	3	0	1	0	2	0	6	1	5	1	5	3	2	1	5	3	2	2			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr1:154557716G>A	ENST00000368474.4	-	14	3619	c.3420C>T	c.(3418-3420)gaC>gaT	p.D1140D	ADAR_ENST00000368471.3_Silent_p.D845D|ADAR_ENST00000292205.5_Silent_p.D1183D	NM_001111.4|NM_015840.3|NM_015841.3	NP_001102|NP_056655.2|NP_056656.2	P55265	DSRAD_HUMAN	adenosine deaminase, RNA-specific	1140	A to I editase. {ECO:0000255|PROSITE- ProRule:PRU00240}.				adenosine to inosine editing (GO:0006382)|base conversion or substitution editing (GO:0016553)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|miRNA loading onto RISC involved in gene silencing by miRNA (GO:0035280)|mRNA modification (GO:0016556)|mRNA processing (GO:0006397)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein kinase activity by regulation of protein phosphorylation (GO:0044387)|negative regulation of viral genome replication (GO:0045071)|positive regulation of viral genome replication (GO:0045070)|pre-miRNA processing (GO:0031054)|protein export from nucleus (GO:0006611)|protein import into nucleus (GO:0006606)|response to interferon-alpha (GO:0035455)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|supraspliceosomal complex (GO:0044530)	DNA binding (GO:0003677)|double-stranded RNA adenosine deaminase activity (GO:0003726)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(4)|prostate(2)|skin(2)	51	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.0997)		LUSC - Lung squamous cell carcinoma(543;0.185)	Colorectal(1306;0.115)		CTCTGGTACCGTCCAGGATCT	0.542																																						ENST00000368474.4																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(4)|prostate(2)|skin(2)	51						c.(3418-3420)gaC>gaT		adenosine deaminase, RNA-specific							171	162	165					1																	154557716		2203	4300	6503	SO:0001819	synonymous_variant	103				adenosine to inosine editing|gene silencing by RNA|mRNA modification|mRNA processing|type I interferon-mediated signaling pathway	cytoplasm|nucleolus|nucleoplasm	DNA binding|double-stranded RNA adenosine deaminase activity|metal ion binding	g.chr1:154557716G>A	BC038227	CCDS1071.1, CCDS30879.1	1q21.3	2012-03-22			ENSG00000160710	ENSG00000160710	3.5.4.-		225	protein-coding gene	gene with protein product		146920	"interferon-induced protein 4"	IFI4, G1P1		7972084	Standard	NM_001111		Approved	ADAR1	uc001ffh.3	P55265	OTTHUMG00000037261	ENST00000368474.4:c.3420C>T	1.37:g.154557716G>A						ADAR_ENST00000368471.3_Silent_p.D845D|ADAR_ENST00000292205.5_Silent_p.D1183D	p.D1140D	NM_001111.4|NM_015840.3|NM_015841.3	NP_001102.2|NP_056655.2|NP_056656.2	P55265	DSRAD_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.185)	Colorectal(1306;0.115)	14	3619	-	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.0997)		1140			A to I editase.		B1AQQ9|B1AQR0|D3DV76|O15223|O43859|O43860|Q9BYM3|Q9BYM4	Silent	SNP	ENST00000368474.4	37	c.3420C>T	CCDS1071.1																																																																																				0.542	ADAR-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000090691.2	NM_001111		13	95	0	0	0	1	0	13	95					A	154557716	G	A	154557716	2	1	286	1	0	0	0	0	0	0	0	1	281	1136	40	1		1	ADAR	1	154557716	Silent	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	636721	154557716	94692905	61	13191											
LMNA	4000	broad.mit.edu	37	chr1	156105740	156105740	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acctggaggactcactggccCgtgagcgggacaccagccgg	8	4	15	14	3	1	1	1	1	0	0	1	4	1	4	4	5	2	0	4	5	0	0			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr1:156105740C>T	ENST00000368300.4	+	6	1197	c.985C>T	c.(985-987)Cgt>Tgt	p.R329C	LMNA_ENST00000347559.2_Missense_Mutation_p.R329C|LMNA_ENST00000368301.2_Missense_Mutation_p.R329C|LMNA_ENST00000448611.2_Missense_Mutation_p.R217C|LMNA_ENST00000392353.3_Missense_Mutation_p.R248C|LMNA_ENST00000368297.1_Missense_Mutation_p.R248C|LMNA_ENST00000368299.3_Missense_Mutation_p.R329C|LMNA_ENST00000361308.4_Missense_Mutation_p.R329C|LMNA_ENST00000496738.1_3'UTR|LMNA_ENST00000473598.2_Missense_Mutation_p.R230C	NM_170707.3	NP_733821.1	P02545	LMNA_HUMAN	lamin A/C	329	Coil 2.|Rod.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular protein metabolic process (GO:0044267)|cellular response to hypoxia (GO:0071456)|endoplasmic reticulum unfolded protein response (GO:0030968)|establishment or maintenance of microtubule cytoskeleton polarity (GO:0030951)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mitotic nuclear envelope reassembly (GO:0007084)|muscle organ development (GO:0007517)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|positive regulation of cell aging (GO:0090343)|protein localization to nucleus (GO:0034504)|regulation of cell migration (GO:0030334)|regulation of protein localization to nucleus (GO:1900180)|sterol regulatory element binding protein import into nucleus (GO:0035105)|ventricular cardiac muscle cell development (GO:0055015)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intermediate filament (GO:0005882)|lamin filament (GO:0005638)|nuclear envelope (GO:0005635)|nuclear lamina (GO:0005652)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	structural molecule activity (GO:0005198)			NS(1)|endometrium(1)|kidney(1)|lung(3)|ovary(4)	10	Hepatocellular(266;0.158)					CTCACTGGCCCGTGAGCGGGA	0.657									Werner syndrome;Hutchinson-Gilford Progeria Syndrome																													ENST00000368300.4																			0				NS(1)|endometrium(1)|kidney(1)|lung(3)|ovary(4)	10						c.(985-987)Cgt>Tgt		lamin A/C							23	29	27					1																	156105740		2203	4300	6503	SO:0001583	missense	4000	Werner syndrome;Hutchinson-Gilford Progeria Syndrome	Familial Cancer Database	WS, Adult Progeria;HGPS, Progeria	cellular component disassembly involved in apoptosis|cellular response to hypoxia|establishment or maintenance of microtubule cytoskeleton polarity|muscle organ development|positive regulation of cell aging|regulation of apoptosis|regulation of cell migration	cytoplasm|lamin filament|nuclear envelope|perinuclear region of cytoplasm	protein binding|structural molecule activity	g.chr1:156105740C>T	BC014507	CCDS1129.1, CCDS1131.1, CCDS58038.1, CCDS72941.1, CCDS72942.1	1q22	2014-09-17			ENSG00000160789	ENSG00000160789		"Intermediate filaments type V, lamins"	6636	protein-coding gene	gene with protein product		150330	"cardiomyopathy, dilated 1A (autosomal dominant)", "limb girdle muscular dystrophy 1B (autosomal dominant)", "progeria 1 (Hutchinson-Gilford type)", "lamin A/C-like 1"	LMN1, CMD1A, LGMD1B, PRO1, LMNL1		8511676, 8838815, 12702809	Standard	NM_005572		Approved	HGPS	uc001fni.3	P02545	OTTHUMG00000013961	ENST00000368300.4:c.985C>T	1.37:g.156105740C>T	ENSP00000357283:p.Arg329Cys					LMNA_ENST00000496738.1_3'UTR|LMNA_ENST00000473598.2_Missense_Mutation_p.R230C|LMNA_ENST00000448611.2_Missense_Mutation_p.R217C|LMNA_ENST00000392353.3_Missense_Mutation_p.R248C|LMNA_ENST00000368297.1_Missense_Mutation_p.R248C|LMNA_ENST00000368299.3_Missense_Mutation_p.R329C|LMNA_ENST00000368301.2_Missense_Mutation_p.R329C|LMNA_ENST00000361308.4_Missense_Mutation_p.R329C|LMNA_ENST00000347559.2_Missense_Mutation_p.R329C	p.R329C	NM_170707.3	NP_733821.1	P02545	LMNA_HUMAN			6	1197	+	Hepatocellular(266;0.158)		329			Coil 2.|Rod.		B4DI32|D3DVB0|D6RAQ3|E7EUI9|P02546|Q5I6Y4|Q5I6Y6|Q5TCJ2|Q5TCJ3|Q6UYC3|Q969I8|Q96JA2	Missense_Mutation	SNP	ENST00000368300.4	37	c.985C>T	CCDS1129.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.083449	0.76642	.	.	ENSG00000160789	ENST00000368301;ENST00000347559;ENST00000361308;ENST00000368300;ENST00000368299;ENST00000292302;ENST00000392355;ENST00000448611;ENST00000368297;ENST00000473598;ENST00000392353	D;D;D;D;D;D;D;D;D	0.89270	-2.49;-2.49;-2.49;-2.49;-2.49;-2.49;-2.49;-2.49;-2.49	5.67	5.67	0.87782	Filament (1);	0.000000	0.53938	D	0.000044	D	0.92815	0.7715	M	0.65975	2.015	0.80722	D	1	D;B;D;D;P;D;B	0.89917	1.0;0.315;1.0;1.0;0.903;0.999;0.386	D;B;D;D;B;P;B	0.72625	0.978;0.34;0.978;0.978;0.34;0.894;0.325	D	0.92921	0.6355	10	0.62326	D	0.03	.	17.2611	0.87070	0.0:1.0:0.0:0.0	.	217;329;230;248;329;329;329	E7EUI9;Q6UYC3;D6RAQ3;Q5TCI8;P02545;P02545-3;P02545-2	.;.;.;.;LMNA_HUMAN;.;.	C	329;329;329;329;329;329;329;217;248;230;248	ENSP00000357284:R329C;ENSP00000292304:R329C;ENSP00000355292:R329C;ENSP00000357283:R329C;ENSP00000357282:R329C;ENSP00000395597:R217C;ENSP00000357280:R248C;ENSP00000421821:R230C;ENSP00000376164:R248C	ENSP00000292302:R329C	R	+	1	0	LMNA	154372364	0.958000	0.32768	0.999000	0.59377	0.972000	0.66771	0.712000	0.25779	2.675000	0.91044	0.655000	0.94253	CGT		0.657	LMNA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039200.2	NM_170707		9	32	0	0	0	1	0	9	32					T	156105740	C	T	156105740	3	4	286	1	0	0	0	0	1	0	0	0	8848	652	23	2	1007	2	LMNA	1	156105740	Missense_Mutation	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	1548024	156105740	93144881	62	13192											
ARHGEF11	9826	broad.mit.edu	37	chr1	156937788	156937788	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agatcactcacctggtcaccGgttgaggggactgctgcatc	8	9	12	12	1	3	2	3	1	0	1	4	3	3	3	2	4	2	3	2	4	0	1	rs149641569		TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr1:156937788G>A	ENST00000361409.2	-	10	1576	c.834C>T	c.(832-834)acC>acT	p.T278T	ARHGEF11_ENST00000368194.3_Silent_p.T318T	NM_014784.3	NP_055599.1	O15085	ARHGB_HUMAN	Rho guanine nucleotide exchange factor (GEF) 11	278					actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|cellular component movement (GO:0006928)|cytokinesis (GO:0000910)|establishment of cell polarity (GO:0030010)|G-protein coupled receptor signaling pathway (GO:0007186)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell growth (GO:0001558)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)|striated muscle contraction (GO:0006941)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular (GO:0005622)|membrane (GO:0016020)	G-protein coupled receptor binding (GO:0001664)|GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(27)|ovary(4)|pancreas(2)|pleura(1)|prostate(4)|skin(7)|stomach(1)|urinary_tract(2)	81	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					CCTGGTCACCGGTTGAGGGGA	0.582																																						ENST00000368194.3																			0				NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(27)|ovary(4)|pancreas(2)|pleura(1)|prostate(4)|skin(7)|stomach(1)|urinary_tract(2)	81						c.(952-954)acC>acT		Rho guanine nucleotide exchange factor (GEF) 11		G	,	0,4406		0,0,2203	53	50	51		834,954	1.8	0	1	dbSNP_134	51	3,8597	3.0+/-9.4	0,3,4297	no	coding-synonymous,coding-synonymous	ARHGEF11	NM_014784.2,NM_198236.1	,	0,3,6500	AA,AG,GG		0.0349,0.0,0.0231	,	278/1523,318/1563	156937788	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	9826				actin cytoskeleton organization|apoptosis|axon guidance|cellular component movement|cytokinesis|establishment of cell polarity|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cell growth|regulation of Rho protein signal transduction|Rho protein signal transduction|striated muscle contraction	cytosol|Golgi apparatus|plasma membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|signal transducer activity	g.chr1:156937788G>A	AB002378	CCDS1162.1, CCDS1163.1	1q21	2011-11-16			ENSG00000132694	ENSG00000132694		"Rho guanine nucleotide exchange factors"	14580	protein-coding gene	gene with protein product		605708				10526156, 9205841	Standard	NM_014784		Approved	KIAA0380, GTRAP48, PDZ-RHOGEF	uc001fqn.3	O15085	OTTHUMG00000041292	ENST00000361409.2:c.834C>T	1.37:g.156937788G>A						ARHGEF11_ENST00000361409.2_Silent_p.T278T	p.T318T	NM_198236.2	NP_937879.1	O15085	ARHGB_HUMAN			11	1993	-	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)		278			RGSL.		D3DVD0|Q5VY40|Q6PFW2	Silent	SNP	ENST00000361409.2	37	c.954C>T	CCDS1162.1																																																																																				0.582	ARHGEF11-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000098931.1	NM_198236		7	45	0	0	0	1	0	7	45					A	156937788	G	A	156937788	2	1	286	1	0	0	0	0	0	0	0	1	896	1103	39	2		2	ARHGEF11	1	156937788	Silent	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	832048	156937788	92312833	63	13193											
ARHGAP30	257106	broad.mit.edu	37	chr1	161039354	161039354	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctgcaggtgctcctgcaagtCgcacccaaaaacccgctcct	9	7	8	17	2	0	0	0	0	0	0	3	0	2	0	4	1	4	5	4	1	3	0			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr1:161039354C>T	ENST00000368013.3	-	1	381	c.61G>A	c.(61-63)Gac>Aac	p.D21N	ARHGAP30_ENST00000368015.1_Intron|ARHGAP30_ENST00000368016.3_Missense_Mutation_p.D21N|PVRL4_ENST00000486694.1_5'Flank	NM_001025598.1|NM_181720.2	NP_001020769.1|NP_859071.2	Q7Z6I6	RHG30_HUMAN	Rho GTPase activating protein 30	21	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)	GTPase activator activity (GO:0005096)			breast(2)|cervix(3)|endometrium(4)|kidney(2)|large_intestine(4)|lung(6)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	all_cancers(52;8.05e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00122)			TCCTGCAAGTCGCACCCAAAA	0.637																																						ENST00000368013.3																			0				breast(2)|cervix(3)|endometrium(4)|kidney(2)|large_intestine(4)|lung(6)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						c.(61-63)Gac>Aac		Rho GTPase activating protein 30							98	89	92					1																	161039354		2203	4300	6503	SO:0001583	missense	257106				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	g.chr1:161039354C>T	AL832852	CCDS1215.1, CCDS30918.1, CCDS72958.1	1q23.3	2011-06-29			ENSG00000186517	ENSG00000186517		"Rho GTPase activating proteins"	27414	protein-coding gene	gene with protein product		614264					Standard	NM_001287602		Approved	FLJ00267	uc001fxl.3	Q7Z6I6	OTTHUMG00000031477	ENST00000368013.3:c.61G>A	1.37:g.161039354C>T	ENSP00000356992:p.Asp21Asn					ARHGAP30_ENST00000368015.1_Intron|ARHGAP30_ENST00000368016.3_Missense_Mutation_p.D21N	p.D21N	NM_001025598.1|NM_181720.2	NP_001020769.1|NP_859071.2	Q7Z6I6	RHG30_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00122)		1	381	-	all_cancers(52;8.05e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		21			Rho-GAP.		Q5SY52|Q5SY53|Q5SY54|Q6ZML6|Q7Z3J8|Q86XI7	Missense_Mutation	SNP	ENST00000368013.3	37	c.61G>A	CCDS30918.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.195641	0.78902	.	.	ENSG00000186517	ENST00000368016;ENST00000368013	T;T	0.12255	2.7;2.7	4.82	4.82	0.62117	Rho GTPase-activating protein domain (2);Rho GTPase activation protein (1);	0.000000	0.85682	D	0.000000	T	0.21267	0.0512	M	0.80332	2.49	0.80722	D	1	D;D	0.67145	0.993;0.996	P;P	0.51701	0.652;0.677	T	0.02505	-1.1149	10	0.62326	D	0.03	.	15.4472	0.75240	0.0:1.0:0.0:0.0	.	21;21	Q7Z6I6;Q7Z6I6-2	RHG30_HUMAN;.	N	21	ENSP00000356995:D21N;ENSP00000356992:D21N	ENSP00000356992:D21N	D	-	1	0	ARHGAP30	159305978	1.000000	0.71417	1.000000	0.80357	0.585000	0.36419	6.703000	0.74633	2.479000	0.83701	0.655000	0.94253	GAC		0.637	ARHGAP30-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077090.2	NM_181720		19	73	0	0	0	1	0	19	73					T	161039354	C	T	161039354	3	4	286	1	0	0	0	0	1	0	0	0	879	884	31	2	3292	2	ARHGAP30	1	161039354	Missense_Mutation	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	4101566	161039354	88211267	64	13194											
DDR2	4921	broad.mit.edu	37	chr1	162729671	162729671	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atgaataccacgtgtggcccGgctatgactatgtgggctgg	8	10	14	9	2	0	2	0	2	0	0	0	2	0	2	2	4	1	2	2	4	4	3	rs376303676		TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr1:162729671G>A	ENST00000367922.3	+	9	1195	c.757G>A	c.(757-759)Ggc>Agc	p.G253S	DDR2_ENST00000367921.3_Missense_Mutation_p.G253S	NM_001014796.1	NP_001014796.1	Q16832	DDR2_HUMAN	discoidin domain receptor tyrosine kinase 2	253					biomineral tissue development (GO:0031214)|cell adhesion (GO:0007155)|chondrocyte proliferation (GO:0035988)|collagen fibril organization (GO:0030199)|collagen-activated tyrosine kinase receptor signaling pathway (GO:0038063)|endochondral bone growth (GO:0003416)|extracellular matrix organization (GO:0030198)|ossification (GO:0001503)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of extracellular matrix disassembly (GO:0090091)|positive regulation of fibroblast migration (GO:0010763)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein autophosphorylation (GO:0046777)|regulation of bone mineralization (GO:0030500)|regulation of extracellular matrix disassembly (GO:0010715)|signal transduction (GO:0007165)	apical plasma membrane (GO:0016324)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|collagen binding (GO:0005518)|protein tyrosine kinase collagen receptor activity (GO:0038062)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			central_nervous_system(2)|kidney(1)|lung(2)|ovary(1)|skin(1)	7	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.113)		Regorafenib(DB08896)	CGTGTGGCCCGGCTATGACTA	0.527																																					NSCLC(161;314 2006 8283 19651 23192)	ENST00000367922.2																			0				central_nervous_system(2)|kidney(1)|lung(2)|ovary(1)|skin(1)	7						c.(757-759)Ggc>Agc		discoidin domain receptor tyrosine kinase 2		G	SER/GLY,SER/GLY	1,4405	2.1+/-5.4	0,1,2202	118	104	109		757,757	4.7	0.9	1		109	0,8600		0,0,4300	no	missense,missense	DDR2	NM_001014796.1,NM_006182.2	56,56	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging	253/856,253/856	162729671	1,13005	2203	4300	6503	SO:0001583	missense	4921				cell adhesion	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr1:162729671G>A	AK095975	CCDS1241.1	1q12-q23	2009-07-10	2008-01-23		ENSG00000162733	ENSG00000162733	2.7.10.1		2731	protein-coding gene	gene with protein product		191311	"discoidin domain receptor family, member 2"	TYRO10, NTRKR3		9659899	Standard	XM_005245221		Approved	TKT	uc001gcg.3	Q16832	OTTHUMG00000034423	ENST00000367922.3:c.757G>A	1.37:g.162729671G>A	ENSP00000356899:p.Gly253Ser					DDR2_ENST00000367921.3_Missense_Mutation_p.G253S	p.G253S	NM_001014796.1	NP_001014796.1	Q16832	DDR2_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.113)		9	1195	+	all_hematologic(112;0.115)		253					Q7Z730	Missense_Mutation	SNP	ENST00000367922.3	37	c.757G>A	CCDS1241.1	.	.	.	.	.	.	.	.	.	.	G	31	5.072507	0.93950	2.27E-4	0.0	ENSG00000162733	ENST00000367922;ENST00000367921	T;T	0.23552	1.9;1.9	5.63	4.71	0.59529	.	0.000000	0.85682	D	0.000000	T	0.40767	0.1130	M	0.76574	2.34	0.40712	D	0.982582	D	0.89917	1.0	D	0.97110	1.0	T	0.45629	-0.9248	9	0.49607	T	0.09	.	14.6117	0.68519	0.0:0.0:0.8528:0.1472	.	253	Q16832	DDR2_HUMAN	S	253	ENSP00000356899:G253S;ENSP00000356898:G253S	ENSP00000356898:G253S	G	+	1	0	DDR2	160996295	1.000000	0.71417	0.873000	0.34254	0.980000	0.70556	9.328000	0.96403	1.364000	0.46038	-0.202000	0.12741	GGC		0.527	DDR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083213.2	NM_006182		18	56	0	0	0	1	0	18	56					A	162729671	G	A	162729671	3	1	286	1	0	0	0	0	1	0	0	0	4337	1116	39	2	779	2	DDR2	1	162729671	Missense_Mutation	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	1690317	162729671	86520950	65	13195											
TNR	7143	broad.mit.edu	37	chr1	175372583	175372583	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagtcatccccgctgtactcGctgtcacagatgcactggcc	7	9	9	16	2	2	1	2	0	0	1	4	1	3	1	3	1	2	4	3	1	1	1			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr1:175372583G>A	ENST00000367674.2	-	4	1377	c.669C>T	c.(667-669)agC>agT	p.S223S	TNR_ENST00000263525.2_Silent_p.S223S			Q92752	TENR_HUMAN	tenascin R	223	Cys-rich.|EGF-like 2.				associative learning (GO:0008306)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|locomotory exploration behavior (GO:0035641)|long-term synaptic potentiation (GO:0060291)|negative regulation of axon extension involved in regeneration (GO:0048692)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of synaptic transmission (GO:0050805)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transmission of nerve impulse (GO:0051971)|synapse organization (GO:0050808)|telencephalon cell migration (GO:0022029)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perineuronal net (GO:0072534)|proteinaceous extracellular matrix (GO:0005578)		p.S223S(1)		NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					CGCTGTACTCGCTGTCACAGA	0.627																																						ENST00000367674.1																			1	Substitution - coding silent(1)	p.S223S(1)	ovary(1)	NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177						c.(667-669)agC>agT		tenascin R							108	107	107					1																	175372583		2203	4300	6503	SO:0001819	synonymous_variant	7143				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix		g.chr1:175372583G>A	X98085	CCDS1318.1	1q24	2013-02-11	2012-07-12		ENSG00000116147	ENSG00000116147		"Fibrinogen C domain containing", "Fibronectin type III domain containing"	11953	protein-coding gene	gene with protein product	"restrictin", "janusin"	601995				8626505, 8940128	Standard	NM_003285		Approved		uc009wwu.1	Q92752	OTTHUMG00000034876	ENST00000367674.2:c.669C>T	1.37:g.175372583G>A						TNR_ENST00000263525.2_Silent_p.S223S	p.S223S	NM_003285.2	NP_003276.3	Q92752	TENR_HUMAN			4	1377	-	Renal(580;0.146)		223			Cys-rich.|EGF-like 2.		C9J563|Q15568|Q5R3G0	Silent	SNP	ENST00000367674.2	37	c.669C>T	CCDS1318.1																																																																																				0.627	TNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084414.4	NM_003285		28	119	0	0	0	1	0	28	119					A	175372583	G	A	175372583	2	1	286	1	0	0	0	0	0	0	0	1	16335	1078	38	1		1	TNR	1	175372583	Silent	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	12642912	175372583	73878038	66	13196											
PAPPA2	60676	broad.mit.edu	37	chr1	176526076	176526076	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caagtgtggaagaggcgggcGgaagatgggcagggagactc	11	4	20	6	2	0	3	0	0	0	3	1	6	0	5	0	6	0	1	0	6	3	0			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr1:176526076G>A	ENST00000367662.3	+	2	1782	c.618G>A	c.(616-618)gcG>gcA	p.A206A	PAPPA2_ENST00000367661.3_Silent_p.A206A	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	206					bone morphogenesis (GO:0060349)|cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|proteolysis (GO:0006508)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						AGAGGCGGGCGGAAGATGGGC	0.567																																						ENST00000367662.3																			0				NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						c.(616-618)gcG>gcA		pappalysin 2							87	95	93					1																	176526076		1984	4141	6125	SO:0001819	synonymous_variant	60676				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding	g.chr1:176526076G>A	BG354569	CCDS41438.1, CCDS41439.1	1q23-q25	2008-05-23	2004-07-07	2004-07-09	ENSG00000116183	ENSG00000116183			14615	protein-coding gene	gene with protein product			"placenta-specific 3"	PLAC3		11018262, 11264294	Standard	NM_021936		Approved	PAPPE, PAPP-A2	uc001gkz.3	Q9BXP8	OTTHUMG00000035025	ENST00000367662.3:c.618G>A	1.37:g.176526076G>A						PAPPA2_ENST00000367661.3_Silent_p.A206A	p.A206A	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN			2	1782	+			206					A9Z1Y8|Q96PH7|Q96PH8|Q9H4C9	Silent	SNP	ENST00000367662.3	37	c.618G>A	CCDS41438.1																																																																																				0.567	PAPPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084763.1			23	101	0	0	0	1	0	23	101					A	176526076	G	A	176526076	2	1	286	1	0	0	0	0	0	0	0	1	11433	1103	39	2		2	PAPPA2	1	176526076	Silent	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	1153493	176526076	72724545	67	13197											
LHX4	89884	broad.mit.edu	37	chr1	180235547	180235547	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgcttcggcacaaaatgcaCggcctgccagcagggtatcc	9	6	12	14	3	0	0	0	0	0	0	2	0	1	0	3	3	3	5	3	3	3	2			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr1:180235547C>T	ENST00000263726.2	+	3	513	c.269C>T	c.(268-270)aCg>aTg	p.T90M		NM_033343.3	NP_203129.1	Q969G2	LHX4_HUMAN	LIM homeobox 4	90	LIM zinc-binding 2. {ECO:0000255|PROSITE- ProRule:PRU00125}.				medial motor column neuron differentiation (GO:0021526)|motor neuron axon guidance (GO:0008045)|negative regulation of apoptotic process (GO:0043066)|organ morphogenesis (GO:0009887)|placenta development (GO:0001890)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)	16						ACAAAATGCACGGCCTGCCAG	0.612																																						ENST00000263726.2																			0				endometrium(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)	16						c.(268-270)aCg>aTg		LIM homeobox 4							62	62	62					1																	180235547		2203	4300	6503	SO:0001583	missense	89884					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr1:180235547C>T	AB037683	CCDS1338.1	1q25.3	2011-06-20			ENSG00000121454	ENSG00000121454		"Homeoboxes / LIM class"	21734	protein-coding gene	gene with protein product		602146				11844481, 11567216	Standard	NM_033343		Approved	Gsh4	uc001goe.2	Q969G2	OTTHUMG00000035115	ENST00000263726.2:c.269C>T	1.37:g.180235547C>T	ENSP00000263726:p.Thr90Met						p.T90M	NM_033343.3	NP_203129.1	Q969G2	LHX4_HUMAN			3	513	+			90			LIM zinc-binding 2.		Q8NHE0|Q8NHM1|Q8TCJ1|Q8WWX2|Q969W2	Missense_Mutation	SNP	ENST00000263726.2	37	c.269C>T	CCDS1338.1	.	.	.	.	.	.	.	.	.	.	C	15.33	2.800311	0.50315	.	.	ENSG00000121454	ENST00000263726	D	0.87729	-2.29	5.26	5.26	0.73747	Zinc finger, LIM-type (5);	0.052691	0.85682	D	0.000000	D	0.91026	0.7177	L	0.55213	1.73	0.58432	D	0.999991	D	0.71674	0.998	P	0.60949	0.881	D	0.91963	0.5580	10	0.87932	D	0	.	17.6438	0.88144	0.0:1.0:0.0:0.0	.	90	Q969G2	LHX4_HUMAN	M	90	ENSP00000263726:T90M	ENSP00000263726:T90M	T	+	2	0	LHX4	178502170	1.000000	0.71417	0.969000	0.41365	0.822000	0.46500	7.711000	0.84669	2.467000	0.83353	0.561000	0.74099	ACG		0.612	LHX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084995.2	NM_033343		9	73	0	0	0	1	0	9	73					T	180235547	C	T	180235547	3	4	286	1	0	0	0	0	1	0	0	0	8773	536	19	1	279	1	LHX4	1	180235547	Missense_Mutation	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	3709471	180235547	69015074	68	13198											
RGS16	6004	broad.mit.edu	37	chr1	182569617	182569617	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagtctgcaggttcatcctcGtcagctcgtgggtctcatgg	5	12	12	12	2	4	0	3	0	2	0	8	0	5	0	1	3	2	3	1	3	0	1	rs376142721		TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr1:182569617G>A	ENST00000367558.5	-	5	567	c.419C>T	c.(418-420)aCg>aTg	p.T140M		NM_002928.3	NP_002919.3	O15492	RGS16_HUMAN	regulator of G-protein signaling 16	140	RGS. {ECO:0000255|PROSITE- ProRule:PRU00171}.				positive regulation of GTPase activity (GO:0043547)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	calmodulin binding (GO:0005516)|GTPase activator activity (GO:0005096)			NS(1)|endometrium(3)|large_intestine(2)|lung(4)|ovary(1)	11						GTTCATCCTCGTCAGCTCGTG	0.592																																						ENST00000367558.5																			0				NS(1)|endometrium(3)|large_intestine(2)|lung(4)|ovary(1)	11						c.(418-420)aCg>aTg		regulator of G-protein signaling 16		G	MET/THR	1,4405	2.1+/-5.4	0,1,2202	125	98	107		419	5.4	1	1		107	2,8598	2.2+/-6.3	0,2,4298	no	missense	RGS16	NM_002928.3	81	0,3,6500	AA,AG,GG		0.0233,0.0227,0.0231	probably-damaging	140/203	182569617	3,13003	2203	4300	6503	SO:0001583	missense	6004				negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway|visual perception	cytoplasm|plasma membrane	calmodulin binding|GTPase activator activity|signal transducer activity	g.chr1:182569617G>A	U70426	CCDS1348.1	1q25-q31	2008-02-05	2007-08-14		ENSG00000143333	ENSG00000143333		"Regulators of G-protein signaling"	9997	protein-coding gene	gene with protein product		602514	"regulator of G-protein signalling 16"			9469939	Standard	NM_002928		Approved	A28-RGS14, RGS-r	uc001gpl.4	O15492	OTTHUMG00000035212	ENST00000367558.5:c.419C>T	1.37:g.182569617G>A	ENSP00000356529:p.Thr140Met						p.T140M	NM_002928.3	NP_002919.3	O15492	RGS16_HUMAN			5	567	-			140			RGS.		B2R4M4|Q5VYN9|Q99701	Missense_Mutation	SNP	ENST00000367558.5	37	c.419C>T	CCDS1348.1	.	.	.	.	.	.	.	.	.	.	G	16.03	3.007792	0.54361	2.27E-4	2.33E-4	ENSG00000143333	ENST00000367558	T	0.02032	4.49	5.38	5.38	0.77491	Regulator of G protein signalling (3);Regulator of G protein signalling superfamily (1);	0.142257	0.64402	D	0.000006	T	0.13586	0.0329	M	0.86097	2.795	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.00027	-1.2302	10	0.87932	D	0	.	12.1463	0.54026	0.0795:0.0:0.9205:0.0	.	140	O15492	RGS16_HUMAN	M	140	ENSP00000356529:T140M	ENSP00000356529:T140M	T	-	2	0	RGS16	180836240	1.000000	0.71417	0.958000	0.39756	0.030000	0.12068	7.720000	0.84759	2.525000	0.85131	0.555000	0.69702	ACG		0.592	RGS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085188.1	NM_002928		12	62	0	0	0	1	0	12	62					A	182569617	G	A	182569617	3	1	286	1	0	0	0	0	1	0	0	0	13298	1145	40	1	193	1	RGS16	1	182569617	Missense_Mutation	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	2334070	182569617	66681004	69	13199											
CFH	3075	broad.mit.edu	37	chr1	196709822	196709824	+	In_Frame_Del	DEL	AGA	AGA	-																															tcagacagttatcagtatggAgaagaagttacgtacaaatg																										TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr1:196709822_196709824delAGA	ENST00000367429.4	+	18	3096_3098	c.2856_2858delAGA	c.(2854-2859)ggagaa>gga	p.E954del		NM_000186.3	NP_000177.2	P08603	CFAH_HUMAN	complement factor H	954	Sushi 16. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	heparan sulfate proteoglycan binding (GO:0043395)|heparin binding (GO:0008201)			NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						ATCAGTATGGAGAAGAAGTTACG	0.384																																						ENST00000367429.4																			0				NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						c.(2854-2859)gga>gg		complement factor H																																				SO:0001651	inframe_deletion	3075				complement activation, alternative pathway	extracellular space		g.chr1:196709822_196709824delAGA	Y00716	CCDS1385.1	1q32	2014-09-17	2004-08-09	2004-08-12	ENSG00000000971	ENSG00000000971		"Complement system"	4883	protein-coding gene	gene with protein product	"beta-1H", "H factor 2 (complement)", "age-related maculopathy susceptibility 1"	134370	"H factor 1 (complement)"	HF, HF1, HF2		2889480, 2963625	Standard	NM_000186		Approved	HUS, FHL1, ARMS1, ARMD4	uc001gtj.4	P08603	OTTHUMG00000035607	ENST00000367429.4:c.2856_2858delAGA	1.37:g.196709825_196709827delAGA	ENSP00000356399:p.Glu954del						p.GE952del	NM_000186.3	NP_000177.2	P08603	CFAH_HUMAN			18	3096_3098	+			952			Sushi 16.		A5PL14|P78435|Q14570|Q2TAZ5|Q38G77|Q5TFM3|Q8N708|Q9NU86	In_Frame_Del	DEL	ENST00000367429.4	37	c.2856_2858delAGA	CCDS1385.1																																																																																				0.384	CFH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086412.2	NM_000186		12	66						12	66	---	---	---	---	-	196709824	AGA	-	196709822	7	5	286	1	0	1	0	1	0	0	0	0	3283	291	11	0	2944	0	CFH	1	196709822	In_Frame_Del	DEL	AGA	TCGA-J9-A52C-01A-11D-A26M-08	14140205	196709822	52540799	70	13200											
KIF21B	23046	broad.mit.edu	37	chr1	200968581	200968581	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cctcacagccactctcgtctCgctcttcctcctcctgggca	4	11	6	20	2	4	0	1	0	3	0	9	0	7	0	5	1	1	2	5	1	0	1	rs373134245		TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr1:200968581C>T	ENST00000422435.2	-	13	2097	c.1781G>A	c.(1780-1782)cGa>cAa	p.R594Q	KIF21B_ENST00000461742.2_Missense_Mutation_p.R594Q|KIF21B_ENST00000360529.5_Missense_Mutation_p.R594Q|KIF21B_ENST00000332129.2_Missense_Mutation_p.R594Q	NM_001252100.1	NP_001239029.1	O75037	KI21B_HUMAN	kinesin family member 21B	594					ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						ACTCTCGTCTCGCTCTTCCTC	0.632																																						ENST00000332129.2																			0				autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						c.(1780-1782)cGa>cAa		kinesin family member 21B			GLN/ARG	0,4406		0,0,2203	115	90	98		1781	0.4	1	1		98	1,8599	1.2+/-3.3	0,1,4299	no	missense	KIF21B	NM_017596.2	43	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	594/1625	200968581	1,13005	2203	4300	6503	SO:0001583	missense	23046				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr1:200968581C>T	BC031927	CCDS30965.1, CCDS58054.1, CCDS58055.1, CCDS58056.1	1q32.1	2013-01-10			ENSG00000116852	ENSG00000116852		"Kinesins", "WD repeat domain containing"	29442	protein-coding gene	gene with protein product		608322				9455484	Standard	NM_001252100		Approved	DKFZP434J212, KIAA0449	uc001gvs.2	O75037	OTTHUMG00000035787	ENST00000422435.2:c.1781G>A	1.37:g.200968581C>T	ENSP00000411831:p.Arg594Gln					KIF21B_ENST00000360529.5_Missense_Mutation_p.R594Q|KIF21B_ENST00000461742.2_Missense_Mutation_p.R594Q|KIF21B_ENST00000422435.2_Missense_Mutation_p.R594Q	p.R594Q	NM_001252102.1|NM_001252103.1|NM_017596.3	NP_001239031.1|NP_001239032.1|NP_060066.2	O75037	KI21B_HUMAN			13	2097	-			594					B2RP62|B7ZMI0|Q5T4J3	Missense_Mutation	SNP	ENST00000422435.2	37	c.1781G>A	CCDS58056.1	.	.	.	.	.	.	.	.	.	.	c	11.17	1.561303	0.27915	0.0	1.16E-4	ENSG00000116852	ENST00000332129;ENST00000360529;ENST00000461742;ENST00000422435;ENST00000539858	T;T;T;T	0.70282	2.02;-0.47;2.02;-0.2	4.75	0.4	0.16331	.	0.592901	0.16118	N	0.228788	T	0.36963	0.0986	N	0.02916	-0.46	0.09310	N	0.999997	B;B;B;B	0.12013	0.003;0.003;0.001;0.005	B;B;B;B	0.06405	0.001;0.001;0.0;0.002	T	0.21552	-1.0242	10	0.13470	T	0.59	.	4.9543	0.14031	0.0:0.4073:0.2746:0.3181	.	594;594;594;594	B7ZMI0;B2RP62;O75037;O75037-2	.;.;KI21B_HUMAN;.	Q	594	ENSP00000328494:R594Q;ENSP00000353724:R594Q;ENSP00000433808:R594Q;ENSP00000411831:R594Q	ENSP00000328494:R594Q	R	-	2	0	KIF21B	199235204	0.092000	0.21681	0.978000	0.43139	0.800000	0.45204	0.472000	0.22116	0.183000	0.20059	-0.359000	0.07587	CGA		0.632	KIF21B-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382635.1	XM_371332		18	81	0	0	0	1	0	18	81					T	200968581	C	T	200968581	3	4	286	1	0	0	0	0	1	0	0	0	8289	884	31	2	3181	2	KIF21B	1	200968581	Missense_Mutation	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	4258759	200968581	48282040	71	13201											
CYB5R1	51706	broad.mit.edu	37	chr1	202932250	202932250	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcgattgggatagcgggccTgcagttcctctaagtcctcc	7	10	12	12	2	1	0	0	0	1	0	4	2	4	1	4	2	3	2	4	2	2	4			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr1:202932250T>G	ENST00000367249.4	-	8	763	c.689A>C	c.(688-690)cAg>cCg	p.Q230P	CYB5R1_ENST00000497655.1_5'UTR	NM_016243.2	NP_057327.2	Q9UHQ9	NB5R1_HUMAN	cytochrome b5 reductase 1	230					sterol biosynthetic process (GO:0016126)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrion (GO:0005739)	cytochrome-b5 reductase activity, acting on NAD(P)H (GO:0004128)			breast(1)|kidney(2)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	12			BRCA - Breast invasive adenocarcinoma(75;0.141)		Flavin adenine dinucleotide(DB03147)	ATAGCGGGCCTGCAGTTCCTC	0.483																																						ENST00000367249.4																			0				breast(1)|kidney(2)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	12						c.(688-690)cAg>cCg		cytochrome b5 reductase 1							114	109	111					1																	202932250		2203	4300	6503	SO:0001583	missense	51706				sterol biosynthetic process	integral to membrane	cytochrome-b5 reductase activity	g.chr1:202932250T>G	AF169481	CCDS1431.1	1q32.1	2011-04-08		2005-07-13	ENSG00000159348	ENSG00000159348	1.6.2.2		13397	protein-coding gene	gene with protein product		608341	"NAD(P)H:quinone oxidoreductase type 3, polypeptide A2"	NQO3A2		12975309, 10611283	Standard	NM_016243		Approved	humb5R2	uc001gyt.2	Q9UHQ9	OTTHUMG00000041387	ENST00000367249.4:c.689A>C	1.37:g.202932250T>G	ENSP00000356218:p.Gln230Pro					CYB5R1_ENST00000497655.1_5'UTR	p.Q230P	NM_016243.2	NP_057327.2	Q9UHQ9	NB5R1_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.141)		8	763	-			230					A0PK21|B2R8E0|O95329|Q53F73|Q8NCL5|Q9UHJ1	Missense_Mutation	SNP	ENST00000367249.4	37	c.689A>C	CCDS1431.1	.	.	.	.	.	.	.	.	.	.	T	21.7	4.191518	0.78902	.	.	ENSG00000159348	ENST00000367249	D	0.87334	-2.24	5.98	4.86	0.63082	Oxidoreductase FAD/NAD(P)-binding (1);	0.259243	0.33346	N	0.005008	D	0.87985	0.6316	M	0.70903	2.155	0.45837	D	0.9987	P	0.38148	0.62	P	0.46885	0.53	D	0.88156	0.2854	10	0.72032	D	0.01	-2.0377	6.6998	0.23219	0.0:0.1643:0.0:0.8357	.	230	Q9UHQ9	NB5R1_HUMAN	P	230	ENSP00000356218:Q230P	ENSP00000356218:Q230P	Q	-	2	0	CYB5R1	201198873	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	3.904000	0.56325	2.288000	0.76882	0.482000	0.46254	CAG		0.483	CYB5R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000099155.1	NM_016243		9	55	0	0	0	1	0	9	55					G	202932250	T	G	202932250	3	3	286	1	0	0	0	0	1	0	0	0	4126	1580	55	5	236	5	CYB5R1	1	202932250	Missense_Mutation	SNP	T	TCGA-J9-A52C-01A-11D-A26M-08	1963669	202932250	46318371	72	13202											
PIK3C2B	5287	broad.mit.edu	37	chr1	204409441	204409441	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcatgtcctggcgaaggtcGtccccacactggatggaggg	8	7	15	11	2	0	0	0	0	0	0	3	3	2	2	3	5	1	1	3	5	1	0			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr1:204409441G>A	ENST00000367187.3	-	23	3814	c.3258C>T	c.(3256-3258)gaC>gaT	p.D1086D	PIK3C2B_ENST00000424712.2_Silent_p.D1058D	NM_002646.3	NP_002637.3	O00750	P3C2B_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta	1086	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.				phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|protein kinase B signaling (GO:0043491)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|lipid kinase activity (GO:0001727)|phosphatidylinositol binding (GO:0035091)			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(4)|large_intestine(11)|lung(24)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	52	all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227)		GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193)			GGCGAAGGTCGTCCCCACACT	0.552																																						ENST00000367187.3																			0				breast(3)|central_nervous_system(1)|cervix(2)|endometrium(4)|large_intestine(11)|lung(24)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	52						c.(3256-3258)gaC>gaT		phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta							123	113	116					1																	204409441		2203	4300	6503	SO:0001819	synonymous_variant	5287				cell communication|phosphatidylinositol-mediated signaling	endoplasmic reticulum|microsome|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity|protein binding	g.chr1:204409441G>A	Y11312	CCDS1446.1	1q32	2012-07-13	2012-07-13		ENSG00000133056	ENSG00000133056	2.7.1.154		8972	protein-coding gene	gene with protein product		602838	"phosphoinositide-3-kinase, class 2, beta polypeptide"			9144573, 9830063	Standard	NM_002646		Approved	C2-PI3K, PI3K-C2beta	uc001haw.3	O00750	OTTHUMG00000036101	ENST00000367187.3:c.3258C>T	1.37:g.204409441G>A						PIK3C2B_ENST00000424712.2_Silent_p.D1058D	p.D1086D	NM_002646.3	NP_002637.3	O00750	P3C2B_HUMAN	GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193)		23	3814	-	all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227)		1086			PI3K/PI4K.		O95666|Q5SW99	Silent	SNP	ENST00000367187.3	37	c.3258C>T	CCDS1446.1																																																																																				0.552	PIK3C2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087965.1	NM_002646		12	74	0	0	0	1	0	12	74					A	204409441	G	A	204409441	2	1	286	1	0	0	0	0	0	0	0	1	11910	1136	40	1		1	PIK3C2B	1	204409441	Silent	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	1477191	204409441	44841180	73	13203											
NFASC	23114	broad.mit.edu	37	chr1	204921196	204921196	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggatcacatcgtggacccccGtgataacatcctgattgagt	10	10	10	11	2	1	3	1	3	0	0	3	5	2	5	3	2	1	0	3	2	1	2			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr1:204921196G>A	ENST00000401399.1	+	4	366	c.167G>A	c.(166-168)cGt>cAt	p.R56H	NFASC_ENST00000338515.6_Missense_Mutation_p.R56H|NFASC_ENST00000539706.1_Missense_Mutation_p.R50H|NFASC_ENST00000513543.1_Missense_Mutation_p.R50H|NFASC_ENST00000338586.6_Missense_Mutation_p.R56H|NFASC_ENST00000367172.4_Missense_Mutation_p.R56H|NFASC_ENST00000404907.1_Missense_Mutation_p.R50H|NFASC_ENST00000367171.4_Missense_Mutation_p.R56H|NFASC_ENST00000367169.4_Missense_Mutation_p.R56H|NFASC_ENST00000404076.1_Missense_Mutation_p.R50H|NFASC_ENST00000339876.6_Missense_Mutation_p.R56H|NFASC_ENST00000367170.4_Missense_Mutation_p.R56H|NFASC_ENST00000360049.4_Missense_Mutation_p.R50H|NFASC_ENST00000403080.1_Missense_Mutation_p.R56H			O94856	NFASC_HUMAN	neurofascin	56	Ig-like C2-type 1.				axon guidance (GO:0007411)|clustering of voltage-gated sodium channels (GO:0045162)|heterotypic cell-cell adhesion (GO:0034113)|myelination (GO:0042552)|paranodal junction assembly (GO:0030913)|peripheral nervous system development (GO:0007422)|protein localization to juxtaparanode region of axon (GO:0071205)|protein localization to paranode region of axon (GO:0002175)|synapse organization (GO:0050808)|transmission of nerve impulse (GO:0019226)	axon initial segment (GO:0043194)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|node of Ranvier (GO:0033268)|paranodal junction (GO:0033010)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)				NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	81	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			GTGGACCCCCGTGATAACATC	0.577																																						ENST00000367172.4																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	81						c.(166-168)cGt>cAt		neurofascin							119	93	101					1																	204921196		2203	4300	6503	SO:0001583	missense	23114				axon guidance|cell adhesion|myelination|peripheral nervous system development	integral to membrane|node of Ranvier|plasma membrane	protein binding	g.chr1:204921196G>A	AK027553	CCDS30982.1, CCDS53460.1, CCDS53461.1, CCDS53462.1	1q32.1	2013-02-11	2010-06-24		ENSG00000163531	ENSG00000163531		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	29866	protein-coding gene	gene with protein product		609145	"neurofascin homolog (chicken)"			1377696, 8672144	Standard	NM_015090		Approved	NRCAML, KIAA0756, FLJ46866, NF	uc001hbj.3	O94856	OTTHUMG00000151697	ENST00000401399.1:c.167G>A	1.37:g.204921196G>A	ENSP00000385637:p.Arg56His					NFASC_ENST00000338515.6_Missense_Mutation_p.R56H|NFASC_ENST00000360049.4_Missense_Mutation_p.R50H|NFASC_ENST00000338586.6_Missense_Mutation_p.R56H|NFASC_ENST00000513543.1_Missense_Mutation_p.R50H|NFASC_ENST00000404076.1_Missense_Mutation_p.R50H|NFASC_ENST00000404907.1_Missense_Mutation_p.R50H|NFASC_ENST00000367170.4_Missense_Mutation_p.R56H|NFASC_ENST00000401399.1_Missense_Mutation_p.R56H|NFASC_ENST00000367171.4_Missense_Mutation_p.R56H|NFASC_ENST00000403080.1_Missense_Mutation_p.R56H|NFASC_ENST00000367169.4_Missense_Mutation_p.R56H|NFASC_ENST00000339876.6_Missense_Mutation_p.R56H|NFASC_ENST00000539706.1_Missense_Mutation_p.R50H	p.R56H			O94856	NFASC_HUMAN	KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)		5	495	+	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		56			Ig-like C2-type 1.		B2RNN8|B3KQZ1|B5MDP6|B5MDR6|B7ZMD8|Q149P5|Q5T2F0|Q5T2F1|Q5T2F2|Q5T2F3|Q5T2F4|Q5T2F5|Q5T2F6|Q5T2F7|Q5T2F9|Q5T2G0|Q5W9F8|Q68DH3|Q6ZQV6|Q7Z3K1|Q96HT1|Q96K50	Missense_Mutation	SNP	ENST00000401399.1	37	c.167G>A	CCDS53460.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	36|36	5.680934|5.680934	0.96774|0.96774	.|.	.|.	ENSG00000163531|ENSG00000163531	ENST00000367172;ENST00000367171;ENST00000367170;ENST00000338515;ENST00000339876;ENST00000338586;ENST00000295776;ENST00000539706;ENST00000360049;ENST00000367169;ENST00000446412;ENST00000403080;ENST00000404076;ENST00000401399;ENST00000505079;ENST00000404907;ENST00000513543;ENST00000430393|ENST00000367173	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T|.	0.66815|.	-0.23;-0.23;-0.23;-0.23;-0.23;-0.23;-0.23;-0.23;-0.23;-0.23;-0.23;-0.23;-0.23;-0.23;-0.23;-0.23;-0.23|.	5.45|5.45	5.45|5.45	0.79879|0.79879	.|.	0.000000|.	0.50627|.	D|.	0.000103|.	T|T	0.71400|0.71400	0.3335|0.3335	L|L	0.54323|0.54323	1.7|1.7	0.80722|0.80722	D|D	1|1	D;P;D;D;D;D|.	0.89917|.	1.0;0.838;1.0;0.998;0.999;0.999|.	D;B;D;P;D;D|.	0.72625|.	0.975;0.144;0.978;0.856;0.955;0.94|.	T|T	0.68066|0.68066	-0.5507|-0.5507	10|5	0.46703|.	T|.	0.11|.	.|.	18.893|18.893	0.92412|0.92412	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	50;50;152;56;50;56|.	O94856-11;O94856-8;B4DRH7;O94856-9;O94856-3;O94856-2|.	.;.;.;.;.;.|.	H|M	56;56;56;56;56;56;50;50;50;56;56;56;50;56;56;50;50;26|26	ENSP00000356140:R56H;ENSP00000356139:R56H;ENSP00000356138:R56H;ENSP00000342128:R56H;ENSP00000344786:R56H;ENSP00000343509:R56H;ENSP00000438614:R50H;ENSP00000353154:R50H;ENSP00000356137:R56H;ENSP00000412161:R56H;ENSP00000384875:R56H;ENSP00000385676:R50H;ENSP00000385637:R56H;ENSP00000427586:R56H;ENSP00000384061:R50H;ENSP00000425908:R50H;ENSP00000415031:R26H|.	ENSP00000295776:R50H|.	R|V	+|+	2|1	0|0	NFASC|NFASC	203187819|203187819	1.000000|1.000000	0.71417|0.71417	0.954000|0.954000	0.39281|0.39281	0.965000|0.965000	0.64279|0.64279	9.717000|9.717000	0.98755|0.98755	2.559000|2.559000	0.86315|0.86315	0.650000|0.650000	0.86243|0.86243	CGT|GTG		0.577	NFASC-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000131237.1	NM_001005388		9	41	0	0	0	1	0	9	41					A	204921196	G	A	204921196	3	1	286	1	0	0	0	0	1	0	0	0	10359	1145	40	1	177	1	NFASC	1	204921196	Missense_Mutation	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	511755	204921196	44329425	74	13204											
SLC41A1	254428	broad.mit.edu	37	chr1	205779319	205779319	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gcggggaaggtggcgcagggCcacggtctgtgctgacgtcg	5	6	20	10	5	1	1	0	1	1	0	2	2	1	2	1	6	1	2	1	6	1	0			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr1:205779319C>T	ENST00000367137.3	-	2	1265	c.251G>A	c.(250-252)gGc>gAc	p.G84D		NM_173854.4	NP_776253.3	Q8IVJ1	S41A1_HUMAN	solute carrier family 41 (magnesium transporter), member 1	84					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cation transmembrane transporter activity (GO:0008324)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	17	Breast(84;0.0799)		BRCA - Breast invasive adenocarcinoma(75;0.0252)			TGGCGCAGGGCCACGGTCTGT	0.627																																						ENST00000367137.3																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	17						c.(250-252)gGc>gAc		solute carrier family 41 (magnesium transporter), member 1							156	133	141					1																	205779319		2203	4300	6503	SO:0001583	missense	254428					integral to membrane|plasma membrane	magnesium ion transmembrane transporter activity	g.chr1:205779319C>T	AJ514402	CCDS30988.1	1q32.1	2013-07-17	2013-07-17		ENSG00000133065	ENSG00000133065		"Solute carriers"	19429	protein-coding gene	gene with protein product		610801				12810078, 18367447	Standard	NM_173854		Approved	MgtE	uc001hdh.1	Q8IVJ1	OTTHUMG00000036000	ENST00000367137.3:c.251G>A	1.37:g.205779319C>T	ENSP00000356105:p.Gly84Asp						p.G84D	NM_173854.4	NP_776253.3	Q8IVJ1	S41A1_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.0252)		2	1265	-	Breast(84;0.0799)		84					Q63HJ4|Q658Z5|Q659A4|Q6MZK2	Missense_Mutation	SNP	ENST00000367137.3	37	c.251G>A	CCDS30988.1	.	.	.	.	.	.	.	.	.	.	C	10.49	1.363761	0.24684	.	.	ENSG00000133065	ENST00000367137	T	0.31247	1.5	5.62	4.7	0.59300	.	0.084430	0.85682	D	0.000000	T	0.21062	0.0507	N	0.21194	0.64	0.42471	D	0.992828	B	0.06786	0.001	B	0.06405	0.002	T	0.04825	-1.0924	10	0.12103	T	0.63	-13.2929	15.7716	0.78173	0.1372:0.8628:0.0:0.0	.	84	Q8IVJ1	S41A1_HUMAN	D	84	ENSP00000356105:G84D	ENSP00000356105:G84D	G	-	2	0	SLC41A1	204045942	1.000000	0.71417	0.978000	0.43139	0.600000	0.36913	5.932000	0.70121	1.359000	0.45940	0.550000	0.68814	GGC		0.627	SLC41A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087731.1			10	75	0	0	0	1	0	10	75					T	205779319	C	T	205779319	3	4	286	1	0	0	0	0	1	0	0	0	14629	739	26	3	1330	3	SLC41A1	1	205779319	Missense_Mutation	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	858123	205779319	43471302	75	13205											
HHAT	55733	broad.mit.edu	37	chr1	210796908	210796908	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caagctcgccgtcgattccaCgctgcccttgcttcttgttc	4	13	8	16	4	1	0	0	0	1	0	5	1	2	0	3	0	3	4	3	0	1	5	rs117382486		TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr1:210796908C>T	ENST00000367010.1	+	11	1511	c.1284C>T	c.(1282-1284)caC>caT	p.H428H	HHAT_ENST00000308852.6_Silent_p.H383H|HHAT_ENST00000391905.3_Silent_p.H428H|HHAT_ENST00000541565.1_Silent_p.H291H|HHAT_ENST00000413764.2_Silent_p.H428H|HHAT_ENST00000367009.1_Silent_p.H118H|HHAT_ENST00000537898.1_Silent_p.H363H|HHAT_ENST00000261458.3_Silent_p.H428H|HHAT_ENST00000545154.1_Silent_p.H429H|HHAT_ENST00000545781.1_Silent_p.H365H	NM_001170580.1	NP_001164051.1	Q5VTY9	HHAT_HUMAN	hedgehog acyltransferase	428					multicellular organismal development (GO:0007275)|protein palmitoylation (GO:0018345)|smoothened signaling pathway (GO:0007224)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	GTP binding (GO:0005525)|palmitoyltransferase activity (GO:0016409)			breast(3)|central_nervous_system(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	27				OV - Ovarian serous cystadenocarcinoma(81;0.0136)|all cancers(67;0.161)|KIRC - Kidney renal clear cell carcinoma(1967;0.215)		GTCGATTCCACGCTGCCCTTG	0.502													C|||	1	0.000199681	0	0	5008	,	,		21230	0.001		0	False		,,,				2504	0					ENST00000367010.1																			0				breast(3)|central_nervous_system(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	27						c.(1282-1284)caC>caT		hedgehog acyltransferase							299	276	284					1																	210796908		2203	4300	6503	SO:0001819	synonymous_variant	55733				multicellular organismal development	endoplasmic reticulum membrane|integral to membrane	GTP binding	g.chr1:210796908C>T	AK001586	CCDS1495.1, CCDS53471.1, CCDS53472.1, CCDS53473.1	1q32	2008-02-05			ENSG00000054392	ENSG00000054392			18270	protein-coding gene	gene with protein product		605743				11160356	Standard	NM_001170587		Approved	FLJ10724, MART-2, MART2, Skn, ski, rasp, sit, GUP2	uc009xcx.3	Q5VTY9	OTTHUMG00000036447	ENST00000367010.1:c.1284C>T	1.37:g.210796908C>T						HHAT_ENST00000541565.1_Silent_p.H291H|HHAT_ENST00000367009.1_Silent_p.H118H|HHAT_ENST00000391905.3_Silent_p.H428H|HHAT_ENST00000413764.2_Silent_p.H428H|HHAT_ENST00000261458.3_Silent_p.H428H|HHAT_ENST00000308852.6_Silent_p.H383H|HHAT_ENST00000537898.1_Silent_p.H363H|HHAT_ENST00000545154.1_Silent_p.H429H|HHAT_ENST00000545781.1_Silent_p.H365H	p.H428H	NM_001170580.1	NP_001164051.1	Q5VTY9	HHAT_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0136)|all cancers(67;0.161)|KIRC - Kidney renal clear cell carcinoma(1967;0.215)	11	1511	+			428					B7Z4D5|B7Z5I1|B7Z868|B7ZA75|D3DT91|F5H444|Q17RZ7|Q4G0K3|Q5CZ95|Q5TGI2|Q9NVH9|Q9Y3N8	Silent	SNP	ENST00000367010.1	37	c.1284C>T	CCDS1495.1																																																																																				0.502	HHAT-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088662.1	NM_018194		35	184	0	0	0	1	0	35	184					T	210796908	C	T	210796908	2	4	286	1	0	0	0	0	0	0	0	1	7089	535	19	1		1	HHAT	1	210796908	Silent	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	5017589	210796908	38453713	76	13206											
RCOR3	55758	broad.mit.edu	37	chr1	211462719	211462719	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggcaactggacatggagtTgatctctctaaaacgtcagg	12	9	12	8	1	3	1	1	1	2	0	4	4	3	3	0	4	2	2	0	4	3	2			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr1:211462719T>C	ENST00000367005.4	+	7	887	c.746T>C	c.(745-747)tTg>tCg	p.L249S	RCOR3_ENST00000367006.4_Missense_Mutation_p.L307S|RCOR3_ENST00000419091.2_Missense_Mutation_p.L307S|RCOR3_ENST00000452621.2_Missense_Mutation_p.L307S	NM_018254.3	NP_060724.1	Q9P2K3	RCOR3_HUMAN	REST corepressor 3	249					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	21				OV - Ovarian serous cystadenocarcinoma(81;0.00961)|all cancers(67;0.0999)|Epithelial(68;0.171)		GACATGGAGTTGATCTCTCTA	0.413																																						ENST00000367005.4																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	21						c.(745-747)tTg>tCg		REST corepressor 3							75	66	69					1																	211462719		2203	4300	6503	SO:0001583	missense	55758				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	g.chr1:211462719T>C	AK001738	CCDS31016.1, CCDS44312.1, CCDS44313.1, CCDS44314.1	1q32.3	2008-02-05			ENSG00000117625	ENSG00000117625			25594	protein-coding gene	gene with protein product						10718198	Standard	NM_018254		Approved	FLJ10876	uc010psw.2	Q9P2K3	OTTHUMG00000036996	ENST00000367005.4:c.746T>C	1.37:g.211462719T>C	ENSP00000355972:p.Leu249Ser					RCOR3_ENST00000419091.2_Missense_Mutation_p.L307S|RCOR3_ENST00000452621.2_Missense_Mutation_p.L307S|RCOR3_ENST00000367006.4_Missense_Mutation_p.L307S	p.L249S	NM_018254.3	NP_060724.1	Q9P2K3	RCOR3_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.00961)|all cancers(67;0.0999)|Epithelial(68;0.171)	7	887	+			249					B3KYA2|B4DYY7|Q5VT47|Q7L9I5|Q8N5U3|Q9NV83	Missense_Mutation	SNP	ENST00000367005.4	37	c.746T>C	CCDS31016.1	.	.	.	.	.	.	.	.	.	.	T	22.2	4.261035	0.80246	.	.	ENSG00000117625	ENST00000367006;ENST00000452621;ENST00000419091;ENST00000367005;ENST00000529763	T;T;T;T;T	0.42131	0.98;1.58;1.58;1.58;0.98	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	T	0.66944	0.2841	M	0.81341	2.54	0.54753	D	0.99998	D;D;D;D	0.89917	1.0;0.998;0.999;1.0	D;D;D;D	0.91635	0.999;0.923;0.986;0.99	T	0.69672	-0.5082	10	0.49607	T	0.09	-1.8101	15.9583	0.79906	0.0:0.0:0.0:1.0	.	307;249;307;307	Q9P2K3-3;Q9P2K3;Q9P2K3-2;Q9P2K3-4	.;RCOR3_HUMAN;.;.	S	307;307;307;249;67	ENSP00000355973:L307S;ENSP00000398558:L307S;ENSP00000413929:L307S;ENSP00000355972:L249S;ENSP00000437048:L67S	ENSP00000355972:L249S	L	+	2	0	RCOR3	209529342	1.000000	0.71417	0.945000	0.38365	0.970000	0.65996	7.633000	0.83260	2.171000	0.68590	0.533000	0.62120	TTG		0.413	RCOR3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000089821.1	NM_018254		7	29	0	0	0	1	0	7	29					C	211462719	T	C	211462719	3	2	286	1	0	0	0	0	1	0	0	0	13184	1821	63	4	950	4	RCOR3	1	211462719	Missense_Mutation	SNP	T	TCGA-J9-A52C-01A-11D-A26M-08	665811	211462719	37787902	77	13207											
PTPN14	5784	broad.mit.edu	37	chr1	214556764	214556764	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctccttcacactagtcaggtCgggttccgagatggatgggc	7	10	13	11	2	2	1	2	0	0	1	5	3	4	2	2	4	0	1	2	4	1	3			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr1:214556764C>T	ENST00000366956.5	-	13	2628	c.2434G>A	c.(2434-2436)Gac>Aac	p.D812N	PTPN14_ENST00000543945.1_3'UTR	NM_005401.4	NP_005392.2	Q15678	PTN14_HUMAN	protein tyrosine phosphatase, non-receptor type 14	812					lymphangiogenesis (GO:0001946)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of protein export from nucleus (GO:0046825)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	protein tyrosine phosphatase activity (GO:0004725)|receptor tyrosine kinase binding (GO:0030971)|transcription cofactor activity (GO:0003712)			NS(2)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(9)|liver(3)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	58				OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155)		CTAGTCAGGTCGGGTTCCGAG	0.567																																					Colon(92;557 1424 24372 34121 40073)	ENST00000366956.5																			0				NS(2)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(9)|liver(3)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						c.(2434-2436)Gac>Aac		protein tyrosine phosphatase, non-receptor type 14							67	72	70					1																	214556764		2203	4300	6503	SO:0001583	missense	5784				lymphangiogenesis	cytoplasm|cytoskeleton	protein tyrosine phosphatase activity|receptor tyrosine kinase binding	g.chr1:214556764C>T	X82676	CCDS1514.1	1q32.2	2011-06-09			ENSG00000152104	ENSG00000152104		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"	9647	protein-coding gene	gene with protein product		603155				7733990	Standard	NM_005401		Approved	PEZ	uc001hkk.2	Q15678	OTTHUMG00000037039	ENST00000366956.5:c.2434G>A	1.37:g.214556764C>T	ENSP00000355923:p.Asp812Asn					PTPN14_ENST00000543945.1_3'UTR	p.D812N	NM_005401.4	NP_005392.2	Q15678	PTN14_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155)	13	2628	-			812					Q5VSI0	Missense_Mutation	SNP	ENST00000366956.5	37	c.2434G>A	CCDS1514.1	.	.	.	.	.	.	.	.	.	.	C	17.64	3.439926	0.63067	.	.	ENSG00000152104	ENST00000366956	T	0.74209	-0.82	4.72	4.72	0.59763	.	0.000000	0.85682	D	0.000000	D	0.86151	0.5864	M	0.77103	2.36	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	D	0.87070	0.2159	10	0.48119	T	0.1	.	17.7036	0.88302	0.0:1.0:0.0:0.0	.	812	Q15678	PTN14_HUMAN	N	812	ENSP00000355923:D812N	ENSP00000355923:D812N	D	-	1	0	PTPN14	212623387	1.000000	0.71417	0.996000	0.52242	0.182000	0.23217	7.662000	0.83803	2.176000	0.68965	0.462000	0.41574	GAC		0.567	PTPN14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089918.2	NM_005401		9	76	0	0	0	1	0	9	76					T	214556764	C	T	214556764	3	4	286	1	0	0	0	0	1	0	0	0	12783	884	31	2	1157	2	PTPN14	1	214556764	Missense_Mutation	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	3094045	214556764	34693857	78	13208											
BPNT1	10380	broad.mit.edu	37	chr1	220253160	220253160	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aatatgcggaggctaccaacCgcatcaacacagtgttactg	13	8	9	11	2	1	0	1	0	0	0	1	1	1	1	2	2	5	3	2	2	6	3	rs369548050		TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr1:220253160C>T	ENST00000469520.2	-	3	478	c.29G>A	c.(28-30)cGg>cAg	p.R10Q	BPNT1_ENST00000354807.3_Missense_Mutation_p.R10Q|BPNT1_ENST00000322067.7_Missense_Mutation_p.R10Q|BPNT1_ENST00000544404.1_Intron|BPNT1_ENST00000414869.2_Missense_Mutation_p.R10Q|BPNT1_ENST00000482136.1_Intron			O95861	BPNT1_HUMAN	3'(2'), 5'-bisphosphate nucleotidase 1	10					3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|dephosphorylation (GO:0016311)|nervous system development (GO:0007399)|nucleobase-containing compound metabolic process (GO:0006139)|phosphatidylinositol phosphorylation (GO:0046854)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	3'(2'),5'-bisphosphate nucleotidase activity (GO:0008441)|inositol-1,4-bisphosphate 1-phosphatase activity (GO:0004441)|magnesium ion binding (GO:0000287)			breast(1)|endometrium(1)|large_intestine(1)|lung(9)|ovary(1)|skin(1)	14				GBM - Glioblastoma multiforme(131;0.0558)		GGCTACCAACCGCATCAACAC	0.398																																						ENST00000469520.2																			0				breast(1)|endometrium(1)|large_intestine(1)|lung(9)|ovary(1)|skin(1)	14						c.(28-30)cGg>cAg		3'(2'), 5'-bisphosphate nucleotidase 1		C	GLN/ARG	0,3826		0,0,1913	111	98	102		29	5.5	1	1		102	1,8231		0,1,4115	no	missense	BPNT1	NM_006085.4	43	0,1,6028	TT,TC,CC		0.0121,0.0,0.0083	possibly-damaging	10/309	220253160	1,12057	1913	4116	6029	SO:0001583	missense	10380				3'-phosphoadenosine 5'-phosphosulfate metabolic process|nervous system development|xenobiotic metabolic process	cytosol	3'(2'),5'-bisphosphate nucleotidase activity	g.chr1:220253160C>T	AF125042	CCDS41469.1, CCDS65787.1, CCDS65788.1	1q42	2008-02-05			ENSG00000162813	ENSG00000162813	3.1.3.7		1096	protein-coding gene	gene with protein product		604053				10224133	Standard	XM_005272998		Approved		uc001hma.3	O95861	OTTHUMG00000037435	ENST00000469520.2:c.29G>A	1.37:g.220253160C>T	ENSP00000446828:p.Arg10Gln					BPNT1_ENST00000322067.7_Missense_Mutation_p.R10Q|BPNT1_ENST00000482136.1_Intron|BPNT1_ENST00000544404.1_Intron|BPNT1_ENST00000354807.3_Missense_Mutation_p.R10Q|BPNT1_ENST00000414869.2_Missense_Mutation_p.R10Q	p.R10Q			O95861	BPNT1_HUMAN		GBM - Glioblastoma multiforme(131;0.0558)	3	478	-			10					A8K7C8|B4DPS5|B4DUS9|D3DTA9|Q8WVL5|Q9UGJ3	Missense_Mutation	SNP	ENST00000469520.2	37	c.29G>A	CCDS41469.1	.	.	.	.	.	.	.	.	.	.	C	18.37	3.608978	0.66558	0.0	1.21E-4	ENSG00000162813	ENST00000322067;ENST00000469520;ENST00000354807;ENST00000302686;ENST00000414869;ENST00000463953;ENST00000498791;ENST00000498237	D;D;D;D;D;D;D	0.82433	-1.61;-1.61;-1.61;-1.61;-1.61;-1.61;-1.61	5.51	5.51	0.81932	.	0.173879	0.51477	D	0.000097	T	0.71492	0.3346	L	0.52573	1.65	0.80722	D	1	B;P;P	0.51351	0.186;0.944;0.709	B;B;B	0.27887	0.065;0.084;0.056	T	0.73733	-0.3890	10	0.33940	T	0.23	.	11.6962	0.51544	0.0:0.9174:0.0:0.0826	.	10;10;10	B4DUS9;A6NF51;O95861	.;.;BPNT1_HUMAN	Q	10	ENSP00000318852:R10Q;ENSP00000446828:R10Q;ENSP00000346862:R10Q;ENSP00000410348:R10Q;ENSP00000446953:R10Q;ENSP00000446850:R10Q;ENSP00000449883:R10Q	ENSP00000307087:R10Q	R	-	2	0	BPNT1	218319783	1.000000	0.71417	1.000000	0.80357	0.811000	0.45836	4.413000	0.59795	2.615000	0.88500	0.579000	0.79373	CGG		0.398	BPNT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091137.2	NM_006085		4	34	0	0	0	1	0	4	34					T	220253160	C	T	220253160	3	4	286	1	0	0	0	0	1	0	0	0	1494	652	23	2	929	2	BPNT1	1	220253160	Missense_Mutation	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	5696396	220253160	28997461	79	13209											
LBR	3930	broad.mit.edu	37	chr1	225598067	225598067	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	catggccaaggatggaacagCgcggtcctgtattttcattt	9	12	11	9	2	1	0	1	0	0	0	2	2	2	2	2	4	2	1	2	4	3	4			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr1:225598067C>T	ENST00000338179.2	-	10	1365	c.1240G>A	c.(1240-1242)Gct>Act	p.A414T	AC092811.1_ENST00000366845.2_5'Flank|LBR_ENST00000272163.4_Missense_Mutation_p.A414T	NM_194442.2	NP_919424.1	Q14739	LBR_HUMAN	lamin B receptor	414					cholesterol biosynthetic process (GO:0006695)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|integral component of nuclear inner membrane (GO:0005639)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)	chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|lamin binding (GO:0005521)|oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor (GO:0016628)|poly(A) RNA binding (GO:0044822)	p.A414T(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	22	Breast(184;0.165)			GBM - Glioblastoma multiforme(131;0.117)		GATGGAACAGCGCGGTCCTGT	0.433																																						ENST00000338179.2																			1	Substitution - Missense(1)	p.A414T(1)	endometrium(1)	breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	22						c.(1240-1242)Gct>Act		lamin B receptor							126	123	124					1																	225598067		2203	4300	6503	SO:0001583	missense	3930				cholesterol biosynthetic process	integral to nuclear inner membrane	chromo shadow domain binding|delta14-sterol reductase activity|DNA binding|lamin binding|receptor activity	g.chr1:225598067C>T	L25931	CCDS1545.1	1q42.1	2013-01-23			ENSG00000143815	ENSG00000143815		"Tudor domain containing"	6518	protein-coding gene	gene with protein product	"tudor domain containing 18"	600024				8157663, 9878250	Standard	NM_194442		Approved	DHCR14B, TDRD18	uc001hoy.3	Q14739	OTTHUMG00000037520	ENST00000338179.2:c.1240G>A	1.37:g.225598067C>T	ENSP00000339883:p.Ala414Thr					LBR_ENST00000272163.4_Missense_Mutation_p.A414T	p.A414T	NM_194442.2	NP_919424.1	Q14739	LBR_HUMAN		GBM - Glioblastoma multiforme(131;0.117)	10	1365	-	Breast(184;0.165)		414					B2R5P3|Q14740|Q53GU7|Q59FE6	Missense_Mutation	SNP	ENST00000338179.2	37	c.1240G>A	CCDS1545.1	.	.	.	.	.	.	.	.	.	.	C	6.293	0.422232	0.11928	.	.	ENSG00000143815	ENST00000272163;ENST00000338179;ENST00000424022	D;D;D	0.97941	-4.62;-4.62;-4.62	5.87	-0.842	0.10748	.	0.667620	0.15810	N	0.243520	D	0.93220	0.7840	L	0.38838	1.175	0.09310	N	1	B	0.24258	0.1	B	0.23419	0.046	D	0.84538	0.0637	10	0.18710	T	0.47	-0.2495	7.5302	0.27679	0.0:0.4968:0.1029:0.4003	.	414	Q14739	LBR_HUMAN	T	414;414;45	ENSP00000272163:A414T;ENSP00000339883:A414T;ENSP00000397817:A45T	ENSP00000272163:A414T	A	-	1	0	LBR	223664690	0.005000	0.15991	0.000000	0.03702	0.002000	0.02628	2.093000	0.41710	-0.314000	0.08716	-0.345000	0.07892	GCT		0.433	LBR-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091398.1	NM_002296		15	75	0	0	0	1	0	15	75					T	225598067	C	T	225598067	3	4	286	1	0	0	0	0	1	0	0	0	8652	768	27	1	627	1	LBR	1	225598067	Missense_Mutation	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	5344907	225598067	23652554	80	13210											
PARP1	142	broad.mit.edu	37	chr1	226551700	226551700	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctattgggtctccctgagaCgtatggcagtagttggcact	7	12	12	10	1	1	1	0	1	1	1	2	2	1	1	2	3	0	5	2	3	3	5			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr1:226551700C>T	ENST00000366794.5	-	20	2873	c.2730G>A	c.(2728-2730)acG>acA	p.T910T	PARP1_ENST00000490921.1_5'UTR	NM_001618.3	NP_001609.2	P09874	PARP1_HUMAN	poly (ADP-ribose) polymerase 1	910	PARP catalytic. {ECO:0000255|PROSITE- ProRule:PRU00397}.				base-excision repair (GO:0006284)|cellular response to insulin stimulus (GO:0032869)|DNA damage response, detection of DNA damage (GO:0042769)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|gene expression (GO:0010467)|macrophage differentiation (GO:0030225)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription regulatory region DNA binding (GO:2000679)|protein ADP-ribosylation (GO:0006471)|protein autoprocessing (GO:0016540)|protein poly-ADP-ribosylation (GO:0070212)|regulation of growth rate (GO:0040009)|signal transduction involved in regulation of gene expression (GO:0023019)|telomere maintenance (GO:0000723)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|NAD binding (GO:0051287)|NAD+ ADP-ribosyltransferase activity (GO:0003950)|poly(A) RNA binding (GO:0044822)|protein N-terminus binding (GO:0047485)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.T910T(1)		breast(2)|endometrium(4)|kidney(4)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	44	Breast(184;0.133)			GBM - Glioblastoma multiforme(131;0.0531)		CTCCCTGAGACGTATGGCAGT	0.498								Poly(ADP-ribose) polymerase (PARP) enzymes that bind to DNA																														ENST00000366794.5																			1	Substitution - coding silent(1)	p.T910T(1)	prostate(1)	breast(2)|endometrium(4)|kidney(4)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	44						c.(2728-2730)acG>acA	Poly(ADP-ribose) polymerase (PARP) enzymes that bind to DNA	poly (ADP-ribose) polymerase 1							136	121	126					1																	226551700		2203	4300	6503	SO:0001819	synonymous_variant	142				cellular response to insulin stimulus|protein ADP-ribosylation|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nuclear envelope|nucleolus|transcription factor complex	DNA binding|identical protein binding|NAD+ ADP-ribosyltransferase activity|protein N-terminus binding|transcription factor binding|zinc ion binding	g.chr1:226551700C>T	BC037545	CCDS1554.1	1q41-q42	2010-02-16	2008-07-28	2004-08-26	ENSG00000143799	ENSG00000143799	2.4.2.30	"Poly (ADP-ribose) polymerases"	270	protein-coding gene	gene with protein product		173870	"ADP-ribosyltransferase (NAD+; poly (ADP-ribose) polymerase)", "poly (ADP-ribose) polymerase family, member 1"	PPOL, ADPRT		10964595	Standard	NM_001618		Approved	PARP	uc001hqd.4	P09874	OTTHUMG00000037556	ENST00000366794.5:c.2730G>A	1.37:g.226551700C>T						PARP1_ENST00000490921.1_5'UTR	p.T910T	NM_001618.3	NP_001609.2	P09874	PARP1_HUMAN		GBM - Glioblastoma multiforme(131;0.0531)	20	2873	-	Breast(184;0.133)		910			PARP catalytic.		B1ANJ4|Q8IUZ9	Silent	SNP	ENST00000366794.5	37	c.2730G>A	CCDS1554.1																																																																																				0.498	PARP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091519.1	NM_001618		14	49	0	0	0	1	0	14	49					T	226551700	C	T	226551700	2	4	286	1	0	0	0	0	0	0	0	1	11454	523	19	1		1	PARP1	1	226551700	Silent	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	953633	226551700	22698921	81	13211											
TRIM67	440730	broad.mit.edu	37	chr1	231299693	231299693	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	accccggtgtgttatctgtgCctggaggagggccggcacgc	5	8	16	12	3	1	0	0	0	1	0	1	2	1	2	4	5	1	2	4	5	1	1			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr1:231299693C>T	ENST00000366653.5	+	1	978	c.978C>T	c.(976-978)tgC>tgT	p.C326C	TRIM67_ENST00000366652.2_Silent_p.C326C|TRIM67_ENST00000444294.3_Silent_p.C326C|TRIM67_ENST00000449018.3_Silent_p.C264C			Q6ZTA4	TRI67_HUMAN	tripartite motif containing 67	326					negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	zinc ion binding (GO:0008270)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29	Breast(184;0.0871)	all_cancers(173;0.189)|Prostate(94;0.167)				GTTATCTGTGCCTGGAGGAGG	0.652																																						ENST00000444294.3																			0				breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29						c.(976-978)tgC>tgT		tripartite motif containing 67							18	22	21					1																	231299693		2062	4196	6258	SO:0001819	synonymous_variant	440730					cytoplasm|cytoskeleton	zinc ion binding	g.chr1:231299693C>T	AK126782	CCDS44333.1, CCDS73048.1	1q42.2	2014-02-17	2011-01-25		ENSG00000119283	ENSG00000119283		"Tripartite motif containing / Tripartite motif containing", "Fibronectin type III domain containing", "RING-type (C3HC4) zinc fingers"	31859	protein-coding gene	gene with protein product		610584	"tripartite motif-containing 67"				Standard	NM_001004342		Approved	TNL	uc009xfn.1	Q6ZTA4	OTTHUMG00000037958	ENST00000366653.5:c.978C>T	1.37:g.231299693C>T						TRIM67_ENST00000366653.5_Silent_p.C326C|TRIM67_ENST00000449018.3_Silent_p.C264C|TRIM67_ENST00000366652.2_Silent_p.C326C	p.C326C	NM_001004342.3	NP_001004342.3	Q6ZTA4	TRI67_HUMAN			1	1836	+	Breast(184;0.0871)	all_cancers(173;0.189)|Prostate(94;0.167)	326					Q5TER7|Q5TER8|Q7Z4K7	Silent	SNP	ENST00000366653.5	37	c.978C>T	CCDS44333.1																																																																																				0.652	TRIM67-001	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000092649.3	NM_001004342		3	12	0	0	0	1	0	3	12					T	231299693	C	T	231299693	2	4	286	1	0	0	0	0	0	0	0	1	16537	747	26	3		3	TRIM67	1	231299693	Silent	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	4747993	231299693	17950928	82	13212											
PCNXL2	80003	broad.mit.edu	37	chr1	233190173	233190173	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtctccacagagggactcctGgagggtccttgtcaagtgtt	7	11	13	10	0	2	1	1	0	1	1	5	3	4	3	3	3	0	1	3	3	1	2			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr1:233190173G>A	ENST00000258229.9	-	25	4426	c.4192C>T	c.(4192-4194)Cag>Tag	p.Q1398*	PCNXL2_ENST00000344698.2_Nonsense_Mutation_p.Q50*	NM_014801.3	NP_055616.3	A6NKB5	PCX2_HUMAN	pecanex-like 2 (Drosophila)	1398						integral component of membrane (GO:0016021)				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				AGGGACTCCTGGAGGGTCCTT	0.438																																						ENST00000258229.8																			0				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86						c.(4192-4194)Cag>Tag		pecanex-like 2 (Drosophila)							55	54	55					1																	233190173		1862	4101	5963	SO:0001587	stop_gained	80003					integral to membrane		g.chr1:233190173G>A	AK055374	CCDS44335.1	1q42.2	2008-02-05	2001-11-28		ENSG00000135749	ENSG00000135749			8736	protein-coding gene	gene with protein product			"pecanex (Drosophila)-like 2"			12477932	Standard	NM_014801		Approved	KIAA0435, FLJ11383	uc001hvl.2	A6NKB5	OTTHUMG00000037824	ENST00000258229.9:c.4192C>T	1.37:g.233190173G>A	ENSP00000258229:p.Gln1398*					PCNXL2_ENST00000344698.2_Nonsense_Mutation_p.Q50*	p.Q1398*	NM_014801.3	NP_055616.3	A6NKB5	PCX2_HUMAN			25	4426	-		all_cancers(173;0.0347)|Prostate(94;0.137)	1398					O43162|Q5T9Z8|Q5TDF1|Q8TEP4|Q96HP9|Q9HAL8	Nonsense_Mutation	SNP	ENST00000258229.9	37	c.4192C>T	CCDS44335.1	.	.	.	.	.	.	.	.	.	.	G	49	15.194620	0.99825	.	.	ENSG00000135749	ENST00000344698;ENST00000258229	.	.	.	4.97	4.97	0.65823	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	18.5835	0.91180	0.0:0.0:1.0:0.0	.	.	.	.	X	50;1398	.	ENSP00000258229:Q1398X	Q	-	1	0	PCNXL2	231256796	1.000000	0.71417	0.998000	0.56505	0.999000	0.98932	9.420000	0.97426	2.474000	0.83562	0.655000	0.94253	CAG		0.438	PCNXL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092480.3	NM_014801		5	30	0	0	0	1	0	5	30					A	233190173	G	A	233190173	4	1	286	1	0	0	0	0	0	1	0	0	11592	1357	47	3	2261	3	PCNXL2	1	233190173	Nonsense_Mutation	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	1890480	233190173	16060448	83	13213											
FMN2	56776	broad.mit.edu	37	chr1	240370883	240370883	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agcgggcatacctcctccgcCgcctctacccggagcaggca	7	5	11	18	4	1	0	0	0	1	0	3	1	3	1	6	3	4	3	6	3	2	2	rs576376829		TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr1:240370883C>T	ENST00000319653.9	+	5	3001	c.2771C>T	c.(2770-2772)cCg>cTg	p.P924L		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	924	FH1.|Pro-rich.				cellular response to DNA damage stimulus (GO:0006974)|cellular response to hypoxia (GO:0071456)|establishment of meiotic spindle localization (GO:0051295)|formin-nucleated actin cable assembly (GO:0070649)|homologous chromosome movement towards spindle pole involved in homologous chromosome segregation (GO:0051758)|intracellular signal transduction (GO:0035556)|intracellular transport (GO:0046907)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein catabolic process (GO:0042177)|oogenesis (GO:0048477)|polar body extrusion after meiotic divisions (GO:0040038)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cell cortex (GO:0005938)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|microvillus (GO:0005902)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|spindle (GO:0005819)	actin binding (GO:0003779)			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			CCTCCTCCGCCGCCTCTACCC	0.677													C|||	1	0.000199681	0	0	5008	,	,		9925	0.001		0	False		,,,				2504	0					ENST00000319653.9																			0				NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178						c.(2770-2772)cCg>cTg		formin 2							41	47	45					1																	240370883		2203	4300	6503	SO:0001583	missense	56776				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding	g.chr1:240370883C>T	AF218942	CCDS31069.2	1q43	2008-02-05			ENSG00000155816	ENSG00000155816			14074	protein-coding gene	gene with protein product		606373				10781961	Standard	NM_020066		Approved		uc010pyd.2	Q9NZ56	OTTHUMG00000039883	ENST00000319653.9:c.2771C>T	1.37:g.240370883C>T	ENSP00000318884:p.Pro924Leu						p.P924L	NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0106)		5	3001	+	Ovarian(103;0.127)	all_cancers(173;0.013)	924			FH1.|Pro-rich.		B0QZA7|B4DP05|Q59GF6|Q5VU37|Q9NZ55	Missense_Mutation	SNP	ENST00000319653.9	37	c.2771C>T	CCDS31069.2	.	.	.	.	.	.	.	.	.	.	C	7.975	0.750010	0.15778	.	.	ENSG00000155816	ENST00000319653	T	0.65549	-0.16	3.11	-0.00777	0.14008	Actin-binding FH2/DRF autoregulatory (1);Formin Homology 1 (1);	0.209925	0.32401	N	0.006152	T	0.58395	0.2119	M	0.88704	2.975	0.09310	N	0.999991	B	0.21753	0.06	B	0.19946	0.027	T	0.52902	-0.8513	9	.	.	.	.	2.6611	0.05027	0.1479:0.5206:0.1449:0.1866	.	924	Q9NZ56	FMN2_HUMAN	L	924	ENSP00000318884:P924L	.	P	+	2	0	FMN2	238437506	0.000000	0.05858	0.005000	0.12908	0.002000	0.02628	-0.143000	0.10296	0.162000	0.19483	0.484000	0.47621	CCG		0.677	FMN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096217.2	XM_371352		27	73	0	0	0	1	0	27	73					T	240370883	C	T	240370883	3	4	286	1	0	0	0	0	1	0	0	0	5950	652	23	2	2789	2	FMN2	1	240370883	Missense_Mutation	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	7180710	240370883	8879738	84	13214											
HADHB	3032	broad.mit.edu	37	chr2	26505777	26505777	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tctggccatgggttataagcCgaaggcatatttgaggtaaa	12	11	12	6	1	1	1	0	1	1	0	1	2	1	1	2	4	1	3	2	4	6	5			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr2:26505777C>T	ENST00000317799.5	+	11	1102	c.998C>T	c.(997-999)cCg>cTg	p.P333L	HADHB_ENST00000537713.1_Missense_Mutation_p.P318L|HADHB_ENST00000405867.3_Missense_Mutation_p.P210L|HADHB_ENST00000545822.1_Missense_Mutation_p.P311L|HADHB_ENST00000494615.1_3'UTR	NM_000183.2	NP_000174.1	P55084	ECHB_HUMAN	hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), beta subunit	333					cardiolipin acyl-chain remodeling (GO:0035965)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|glycerophospholipid biosynthetic process (GO:0046474)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|mitochondrial envelope (GO:0005740)|mitochondrial fatty acid beta-oxidation multienzyme complex (GO:0016507)|mitochondrial inner membrane (GO:0005743)|mitochondrial nucleoid (GO:0042645)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	3-hydroxyacyl-CoA dehydrogenase activity (GO:0003857)|acetyl-CoA C-acyltransferase activity (GO:0003988)|enoyl-CoA hydratase activity (GO:0004300)|fatty-acyl-CoA binding (GO:0000062)|long-chain-3-hydroxyacyl-CoA dehydrogenase activity (GO:0016509)|long-chain-enoyl-CoA hydratase activity (GO:0016508)|NAD binding (GO:0051287)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|skin(1)	19	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGTTATAAGCCGAAGGCATAT	0.363																																						ENST00000317799.5																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|skin(1)	19						c.(997-999)cCg>cTg		hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), beta subunit							104	102	102					2																	26505777		2203	4300	6503	SO:0001583	missense	3032				fatty acid beta-oxidation	mitochondrial nucleoid	3-hydroxyacyl-CoA dehydrogenase activity|acetyl-CoA C-acyltransferase activity|enoyl-CoA hydratase activity|protein binding	g.chr2:26505777C>T		CCDS1722.1, CCDS62871.1, CCDS62872.1	2p23	2010-04-30	2010-04-30		ENSG00000138029	ENSG00000138029	2.3.1.16		4803	protein-coding gene	gene with protein product	"mitochondrial trifunctional protein, beta subunit"	143450	"hydroxyacyl-Coenzyme A dehydrogenase/3-ketoacyl-Coenzyme A thiolase/enoyl-Coenzyme A hydratase (trifunctional protein), beta subunit"			9605857	Standard	NM_000183		Approved	MTPB	uc002rgz.3	P55084	OTTHUMG00000096978	ENST00000317799.5:c.998C>T	2.37:g.26505777C>T	ENSP00000325136:p.Pro333Leu					HADHB_ENST00000405867.3_Missense_Mutation_p.P210L|HADHB_ENST00000494615.1_3'UTR|HADHB_ENST00000545822.1_Missense_Mutation_p.P311L|HADHB_ENST00000537713.1_Missense_Mutation_p.P318L	p.P333L	NM_000183.2	NP_000174.1	P55084	ECHB_HUMAN			11	1102	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		333					B2RB16|B4E2W0|O14969|Q53TA6|Q96C77|Q9H3F5|Q9T2V8	Missense_Mutation	SNP	ENST00000317799.5	37	c.998C>T	CCDS1722.1	.	.	.	.	.	.	.	.	.	.	C	28.1	4.889169	0.91889	.	.	ENSG00000138029	ENST00000317799;ENST00000405867;ENST00000537713;ENST00000545822	D;D;D;D	0.92752	-1.79;-3.1;-1.79;-1.79	5.95	5.95	0.96441	Thiolase-like, subgroup (1);Thiolase-like (1);Thiolase, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.97742	0.9259	H	0.97758	4.07	0.80722	D	1	P;P;D;P	0.89917	0.788;0.646;1.0;0.823	B;B;D;B	0.91635	0.216;0.323;0.999;0.323	D	0.97943	1.0327	10	0.51188	T	0.08	-11.0161	18.9662	0.92697	0.0:1.0:0.0:0.0	.	318;311;210;333	F5GZQ3;B4E2W0;B5MD38;P55084	.;.;.;ECHB_HUMAN	L	333;210;318;311	ENSP00000325136:P333L;ENSP00000385411:P210L;ENSP00000444295:P318L;ENSP00000442665:P311L	ENSP00000325136:P333L	P	+	2	0	HADHB	26359281	1.000000	0.71417	0.988000	0.46212	0.986000	0.74619	7.513000	0.81739	2.827000	0.97445	0.650000	0.86243	CCG		0.363	HADHB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214050.2	NM_000183		6	24	0	0	0	1	0	6	24					T	26505777	C	T	26505777	3	4	286	1	0	0	0	0	1	0	0	0	6944	652	23	2	1036	2	HADHB	2	26505777	Missense_Mutation	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08		26505777	216693596	85	13215											
C2orf71	388939	broad.mit.edu	37	chr2	29297043	29297043	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tccgccctgacatcctggccGaattgctttgggctttttca	5	14	9	13	2	1	1	1	1	0	0	3	2	3	1	4	2	1	2	4	2	1	4	rs201706430		TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr2:29297043G>A	ENST00000331664.5	-	1	84	c.85C>T	c.(85-87)Cgg>Tgg	p.R29W		NM_001029883.2	NP_001025054.1	A6NGG8	CB071_HUMAN	chromosome 2 open reading frame 71	29					response to stimulus (GO:0050896)|visual perception (GO:0007601)	primary cilium (GO:0072372)				NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1)	60						CATCCTGGCCGAATTGCTTTG	0.512													G|||	1	0.000199681	0	0	5008	,	,		20924	0.001		0	False		,,,				2504	0					ENST00000331664.5																			0				NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1)	60						c.(85-87)Cgg>Tgg		chromosome 2 open reading frame 71							92	87	89					2																	29297043		1992	4166	6158	SO:0001583	missense	388939				response to stimulus|visual perception	photoreceptor outer segment		g.chr2:29297043G>A		CCDS42669.1	2p23.2	2014-01-28			ENSG00000179270	ENSG00000179270			34383	protein-coding gene	gene with protein product		613425				20398886	Standard	NM_001029883		Approved	FLJ34931, RP54	uc002rmt.2	A6NGG8	OTTHUMG00000152024	ENST00000331664.5:c.85C>T	2.37:g.29297043G>A	ENSP00000332809:p.Arg29Trp						p.R29W	NM_001029883.2	NP_001025054.1	A6NGG8	CB071_HUMAN			1	84	-			29						Missense_Mutation	SNP	ENST00000331664.5	37	c.85C>T	CCDS42669.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	11.86	1.765442	0.31228	.	.	ENSG00000179270	ENST00000331664	T	0.17854	2.25	5.88	-5.99	0.02213	.	0.143123	0.29853	N	0.011038	T	0.14570	0.0352	N	0.22421	0.69	0.19300	N	0.999976	D	0.57571	0.98	P	0.47744	0.556	T	0.22556	-1.0213	10	0.72032	D	0.01	-2.8259	19.4436	0.94836	0.2736:0.0:0.7264:0.0	.	29	A6NGG8	CB071_HUMAN	W	29	ENSP00000332809:R29W	ENSP00000332809:R29W	R	-	1	2	C2orf71	29150547	0.015000	0.18098	0.113000	0.21522	0.211000	0.24417	-0.612000	0.05616	-1.088000	0.03077	-0.291000	0.09656	CGG		0.512	C2orf71-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000324924.3	NM_001029883		12	43	0	0	0	1	0	12	43					A	29297043	G	A	29297043	3	1	286	1	0	0	0	0	1	0	0	0	2191	1057	37	2	3789	2	C2orf71	2	29297043	Missense_Mutation	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	2791266	29297043	213902330	86	13216											
BIRC6	57448	broad.mit.edu	37	chr2	32667453	32667453	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aatttctgtcagacatcgtaCgtgtttgcttctttgaggca	8	16	9	8	2	3	2	1	1	2	1	4	2	3	2	0	1	2	4	0	1	2	5			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr2:32667453C>T	ENST00000421745.2	+	19	4302	c.4168C>T	c.(4168-4170)Cgt>Tgt	p.R1390C		NM_016252.3	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	1390					apoptotic process (GO:0006915)|labyrinthine layer development (GO:0060711)|mitotic nuclear division (GO:0007067)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cell proliferation (GO:0042127)|regulation of cytokinesis (GO:0032465)|spongiotrophoblast layer development (GO:0060712)	endosome (GO:0005768)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|midbody (GO:0030496)|spindle pole (GO:0000922)|trans-Golgi network (GO:0005802)	acid-amino acid ligase activity (GO:0016881)|cysteine-type endopeptidase inhibitor activity (GO:0004869)|ubiquitin-protein transferase activity (GO:0004842)			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					AGACATCGTACGTGTTTGCTT	0.398																																					Pancreas(94;175 1509 16028 18060 45422)	ENST00000421745.2																			0				NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172						c.(4168-4170)Cgt>Tgt		baculoviral IAP repeat containing 6							128	121	123					2																	32667453		2203	4300	6503	SO:0001583	missense	57448				anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding	g.chr2:32667453C>T	AF265555	CCDS33175.2	2p22.3	2011-01-25	2011-01-25		ENSG00000115760	ENSG00000115760		"Baculoviral IAP repeat containing", "Ubiquitin-conjugating enzymes E2"	13516	protein-coding gene	gene with protein product	"apollon"	605638	"baculoviral IAP repeat-containing 6"			10544019	Standard	NM_016252		Approved	BRUCE	uc010ezu.3	Q9NR09	OTTHUMG00000150528	ENST00000421745.2:c.4168C>T	2.37:g.32667453C>T	ENSP00000393596:p.Arg1390Cys						p.R1390C	NM_016252.3	NP_057336.3	Q9NR09	BIRC6_HUMAN			19	4302	+	Acute lymphoblastic leukemia(172;0.155)		1390					Q9ULD1	Missense_Mutation	SNP	ENST00000421745.2	37	c.4168C>T	CCDS33175.2	.	.	.	.	.	.	.	.	.	.	C	24.4	4.529178	0.85706	.	.	ENSG00000115760	ENST00000421745	T	0.78126	-1.15	4.93	4.93	0.64822	.	0.069651	0.64402	D	0.000020	T	0.81489	0.4833	M	0.70595	2.14	0.80722	D	1	D	0.69078	0.997	P	0.47603	0.551	D	0.85254	0.1046	10	0.87932	D	0	.	18.1639	0.89718	0.0:1.0:0.0:0.0	.	1390	Q9NR09	BIRC6_HUMAN	C	1390	ENSP00000393596:R1390C	ENSP00000393596:R1390C	R	+	1	0	BIRC6	32520957	1.000000	0.71417	0.979000	0.43373	0.997000	0.91878	2.775000	0.47702	2.270000	0.75569	0.650000	0.86243	CGT		0.398	BIRC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318769.3	NM_016252		3	7	0	0	0	1	0	3	7					T	32667453	C	T	32667453	3	4	286	1	0	0	0	0	1	0	0	0	1438	536	19	1	4242	1	BIRC6	2	32667453	Missense_Mutation	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	3370410	32667453	210531920	87	13217											
FAM98A	25940	broad.mit.edu	37	chr2	33813402	33813402	+	Splice_Site	DEL	T	T	-																															tttggtactaaaggtcttacTtttttttcaatcccgctgaa																										TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr2:33813402delT	ENST00000238823.8	-	4	662	c.522delA	c.(520-522)aaa>aa	p.K174fs	FAM98A_ENST00000403368.1_Splice_Site_p.K174fs|FAM98A_ENST00000498340.1_Intron|FAM98A_ENST00000441530.2_Intron			Q8NCA5	FA98A_HUMAN	family with sequence similarity 98, member A	174							poly(A) RNA binding (GO:0044822)			NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(1)	24	all_hematologic(175;0.115)					AAGGTCTTACTTTTTTTTCAA	0.338																																						ENST00000403368.1																			0				NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(1)	24						c.e4+1		family with sequence similarity 98, member A							158	159	159					2																	33813402		2203	4300	6503	SO:0001630	splice_region_variant	25940							g.chr2:33813402delT		CCDS33179.1	2p22.3	2006-11-29		2005-11-20	ENSG00000119812	ENSG00000119812			24520	protein-coding gene	gene with protein product						12477932	Standard	NM_015475		Approved	DKFZP564F0522	uc002rpa.1	Q8NCA5	OTTHUMG00000152152	ENST00000238823.8:c.522+1A>-	2.37:g.33813402delT						FAM98A_ENST00000441530.2_Intron|FAM98A_ENST00000498340.1_Intron|FAM98A_ENST00000238823.8_Splice_Site_p.K174_splice	p.K174_splice	NM_015475.3	NP_056290.3	Q8NCA5	FA98A_HUMAN			4	591	-	all_hematologic(175;0.115)		175					B2RNA2|Q9Y3Y6	Splice_Site	DEL	ENST00000238823.8	37	c.522_splice	CCDS33179.1																																																																																				0.338	FAM98A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325457.2	NM_015475	Frame_Shift_Del	17	55						17	55	---	---	---	---	-	33813402	T	-	33813402	8	5	286	1	0	1	0	1	0	0	1	0	5656	1623	56	0	1054	0	FAM98A	2	33813402	Splice_Site	DEL	T	TCGA-J9-A52C-01A-11D-A26M-08	1145949	33813402	209385971	88	13218											
SPTBN1	6711	broad.mit.edu	37	chr2	54886368	54886368	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccttctcccgagccgagcacGaaggtttcagaggaagccga	10	6	12	13	4	2	1	1	0	1	1	3	6	2	2	4	2	3	2	4	2	2	2	rs150684675		TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr2:54886368G>A	ENST00000356805.4	+	31	6602	c.6321G>A	c.(6319-6321)acG>acA	p.T2107T	AC093110.3_ENST00000456363.1_RNA|SPTBN1_ENST00000333896.5_Silent_p.T2094T	NM_003128.2	NP_003119.2	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1	2107					actin filament capping (GO:0051693)|axon guidance (GO:0007411)|Golgi to plasma membrane protein transport (GO:0043001)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|plasma membrane organization (GO:0007009)|protein targeting to plasma membrane (GO:0072661)	axolemma (GO:0030673)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|protein complex (GO:0043234)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin binding (GO:0003779)|ankyrin binding (GO:0030506)|phospholipid binding (GO:0005543)|poly(A) RNA binding (GO:0044822)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	82			Lung(47;0.24)			AGCCGAGCACGAAGGTTTCAG	0.567																																						ENST00000333896.5																			0				NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	82						c.(6280-6282)acG>acA		spectrin, beta, non-erythrocytic 1		G	,	1,4405	2.1+/-5.4	0,1,2202	101	116	111		6321,6282	-1.4	1	2	dbSNP_134	111	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	SPTBN1	NM_003128.2,NM_178313.2	,	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	,	2107/2365,2094/2156	54886368	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	0				actin filament capping|axon guidance	cytosol|nucleolus|plasma membrane|sarcomere|spectrin	actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton	g.chr2:54886368G>A		CCDS33198.1, CCDS33199.1	2p21	2013-01-10			ENSG00000115306	ENSG00000115306		"Pleckstrin homology (PH) domain containing"	11275	protein-coding gene	gene with protein product		182790					Standard	NM_003128		Approved		uc002rxu.3	Q01082	OTTHUMG00000133746	ENST00000356805.4:c.6321G>A	2.37:g.54886368G>A						SPTBN1_ENST00000356805.4_Silent_p.T2107T	p.T2094T	NM_178313.2	NP_842565.2	Q01082	SPTB2_HUMAN	Lung(47;0.24)		30	6667	+			2107					B2RP63|O60837|Q16057|Q53R99|Q59ER3|Q8IX99	Silent	SNP	ENST00000356805.4	37	c.6282G>A	CCDS33198.1																																																																																				0.567	SPTBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258115.3			27	154	0	0	0	1	0	27	154					A	54886368	G	A	54886368	2	1	286	1	0	0	0	0	0	0	0	1	15118	1045	37	2		2	SPTBN1	2	54886368	Silent	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	21072966	54886368	188313005	89	13219											
ARHGAP25	9938	broad.mit.edu	37	chr2	69049673	69049673	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gcaaaatggagatctttaaaAatgaattctggtcgccttcc	13	12	8	8	1	2	2	0	1	2	1	4	3	3	2	2	2	0	1	2	2	6	4			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr2:69049673A>G	ENST00000295381.3	+	10	1818	c.1399A>G	c.(1399-1401)Aat>Gat	p.N467D	ARHGAP25_ENST00000409220.1_Missense_Mutation_p.N461D|ARHGAP25_ENST00000409030.3_Missense_Mutation_p.N460D|ARHGAP25_ENST00000479844.1_Missense_Mutation_p.N161D|ARHGAP25_ENST00000467265.1_Missense_Mutation_p.N428D|ARHGAP25_ENST00000409202.3_Missense_Mutation_p.N468D	NM_001007231.2	NP_001007232.2	P42331	RHG25_HUMAN	Rho GTPase activating protein 25	467					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)			breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(20)|ovary(3)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	52						GATCTTTAAAAATGAATTCTG	0.473																																						ENST00000295381.3																			0				breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(20)|ovary(3)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	52						c.(1399-1401)Aat>Gat		Rho GTPase activating protein 25							83	85	84					2																	69049673		2203	4300	6503	SO:0001583	missense	9938				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	g.chr2:69049673A>G	D29642	CCDS33214.1, CCDS46312.1, CCDS33214.2, CCDS54363.1, CCDS54364.1	2p13.3	2013-01-10			ENSG00000163219	ENSG00000163219		"Rho GTPase activating proteins", "Pleckstrin homology (PH) domain containing"	28951	protein-coding gene	gene with protein product		610587				7584044	Standard	NM_001007231		Approved	KIAA0053	uc010fdg.3	P42331	OTTHUMG00000152621	ENST00000295381.3:c.1399A>G	2.37:g.69049673A>G	ENSP00000295381:p.Asn467Asp					ARHGAP25_ENST00000409030.3_Missense_Mutation_p.N460D|ARHGAP25_ENST00000409220.1_Missense_Mutation_p.N461D|ARHGAP25_ENST00000479844.1_Missense_Mutation_p.N161D|ARHGAP25_ENST00000467265.1_Missense_Mutation_p.N428D|ARHGAP25_ENST00000409202.3_Missense_Mutation_p.N468D	p.N467D	NM_001007231.2	NP_001007232.2	P42331	RHG25_HUMAN			10	1818	+			467					A8K2Y1|B7Z498|E9PFQ7|G5E9G2|Q8IXQ2	Missense_Mutation	SNP	ENST00000295381.3	37	c.1399A>G		.	.	.	.	.	.	.	.	.	.	A	14.47	2.543793	0.45280	.	.	ENSG00000163219	ENST00000295381;ENST00000409202;ENST00000467265;ENST00000409030;ENST00000409220;ENST00000482106;ENST00000543533;ENST00000479844	T;T;T;T;T;T	0.18338	2.82;2.82;2.55;2.82;2.82;2.22	5.38	5.38	0.77491	.	0.339190	0.30235	N	0.010084	T	0.16342	0.0393	L	0.43923	1.385	0.80722	D	1	P;P;P;P;B	0.43352	0.651;0.804;0.804;0.804;0.017	B;B;B;B;B	0.41571	0.15;0.36;0.36;0.36;0.01	T	0.05533	-1.0879	10	0.15499	T	0.54	.	13.4353	0.61079	1.0:0.0:0.0:0.0	.	428;468;461;460;467	E9PFQ7;P42331-4;G5E9G2;P42331-3;P42331	.;.;.;.;RHG25_HUMAN	D	467;468;428;460;461;461;452;161	ENSP00000295381:N467D;ENSP00000386911:N468D;ENSP00000420583:N428D;ENSP00000386863:N460D;ENSP00000386241:N461D;ENSP00000417467:N161D	ENSP00000295381:N467D	N	+	1	0	ARHGAP25	68903177	0.195000	0.23338	1.000000	0.80357	0.993000	0.82548	2.459000	0.45023	2.158000	0.67659	0.455000	0.32223	AAT		0.473	ARHGAP25-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_014882		18	73	0	0	0	1	0	18	73					G	69049673	A	G	69049673	3	3	286	1	0	0	0	0	1	0	0	0	874	14	1	4	1480	4	ARHGAP25	2	69049673	Missense_Mutation	SNP	A	TCGA-J9-A52C-01A-11D-A26M-08	14163305	69049673	174149700	90	13220											
GKN2	200504	broad.mit.edu	37	chr2	69177376	69177376	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cattgccaccattgttgcttGggctgatgatgttaaaaacc	10	13	9	9	0	0	2	0	2	0	0	0	2	0	2	3	1	3	4	3	1	3	5			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr2:69177376G>A	ENST00000328895.4	-	3	194	c.86C>T	c.(85-87)cCa>cTa	p.P29L	GKN2_ENST00000481498.1_Missense_Mutation_p.P29L	NM_182536.2	NP_872342.2	Q86XP6	GKN2_HUMAN	gastrokine 2	29						extracellular region (GO:0005576)				autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|urinary_tract(1)	15						ATTGTTGCTTGGGCTGATGAT	0.353																																						ENST00000481498.1																			0				autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|urinary_tract(1)	15						c.(85-87)cCa>cTa		gastrokine 2							86	81	83					2																	69177376		2203	4300	6503	SO:0001583	missense	200504					extracellular region		g.chr2:69177376G>A	AF494509	CCDS33215.1	2p14	2012-10-10			ENSG00000183607	ENSG00000183607		"BRICHOS domain containing"	24588	protein-coding gene	gene with protein product	"down regulated in gastric cancer GDDR", "BRICHOS domain containing 1B"					15774165, 15924415, 16888721	Standard	NM_182536		Approved	TFIZ1, PRO813, VLTI465, blottin, GDDR, BRICD1B	uc002sfa.3	Q86XP6	OTTHUMG00000152655	ENST00000328895.4:c.86C>T	2.37:g.69177376G>A	ENSP00000329292:p.Pro29Leu					GKN2_ENST00000328895.4_Missense_Mutation_p.P29L	p.P29L			Q86XP6	GKN2_HUMAN			3	104	-			29					Q6UWS6	Missense_Mutation	SNP	ENST00000328895.4	37	c.86C>T	CCDS33215.1	.	.	.	.	.	.	.	.	.	.	G	16.16	3.044306	0.55110	.	.	ENSG00000183607	ENST00000328895;ENST00000481498	T;T	0.47177	0.88;0.85	5.28	4.4	0.53042	.	0.253690	0.34676	N	0.003768	T	0.53045	0.1772	M	0.64997	1.995	0.39154	D	0.962287	B;D	0.59767	0.451;0.986	B;P	0.50970	0.112;0.655	T	0.58662	-0.7597	10	0.48119	T	0.1	-4.4389	11.1716	0.48575	0.0:0.0:0.8165:0.1835	.	29;29	E5RHQ8;Q86XP6	.;GKN2_HUMAN	L	29	ENSP00000329292:P29L;ENSP00000428538:P29L	ENSP00000329292:P29L	P	-	2	0	GKN2	69030880	0.962000	0.33011	0.685000	0.30070	0.696000	0.40369	2.255000	0.43222	1.439000	0.47511	0.655000	0.94253	CCA		0.353	GKN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327191.1	NM_182536		7	22	0	0	0	1	0	7	22					A	69177376	G	A	69177376	3	1	286	1	0	0	0	0	1	0	0	0	6425	1348	47	3	484	3	GKN2	2	69177376	Missense_Mutation	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	127703	69177376	174021997	91	13221											
TET3	200424	broad.mit.edu	37	chr2	74328942	74328942	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgggagctgcacgccaccaCgccgcttaagaagcccaacc	10	3	11	17	4	0	1	0	0	0	1	0	2	0	2	5	1	4	3	5	1	3	1			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr2:74328942C>T	ENST00000409262.3	+	9	4622	c.4622C>T	c.(4621-4623)aCg>aTg	p.T1541M		NM_144993.1	NP_659430.1	O43151	TET3_HUMAN	tet methylcytosine dioxygenase 3	1541					DNA demethylation (GO:0080111)|DNA demethylation of male pronucleus (GO:0044727)|histone H3-K4 trimethylation (GO:0080182)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein O-linked glycosylation (GO:0006493)	cytoplasm (GO:0005737)|female pronucleus (GO:0001939)|male pronucleus (GO:0001940)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methylcytosine dioxygenase activity (GO:0070579)			NS(1)|breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						CACGCCACCACGCCGCTTAAG	0.662																																						ENST00000409262.3																			0				NS(1)|breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						c.(4621-4623)aCg>aTg		tet methylcytosine dioxygenase 3							27	32	30					2																	74328942		2072	4201	6273	SO:0001583	missense	200424						metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr2:74328942C>T		CCDS46339.1, CCDS46339.2	2p13.1	2011-09-30	2011-09-30		ENSG00000187605	ENSG00000187605			28313	protein-coding gene	gene with protein product		613555	"tet oncogene family member 3"			9455477	Standard	XM_005264187		Approved	MGC22014, hCG_40738	uc031roi.1	O43151	OTTHUMG00000152823	ENST00000409262.3:c.4622C>T	2.37:g.74328942C>T	ENSP00000386869:p.Thr1541Met						p.T1541M	NM_144993.1	NP_659430.1	O43151	TET3_HUMAN			9	4622	+			1541					A6NEI3|Q86Z24|Q8TBM9	Missense_Mutation	SNP	ENST00000409262.3	37	c.4622C>T	CCDS46339.1	.	.	.	.	.	.	.	.	.	.	C	15.64	2.894710	0.52121	.	.	ENSG00000187605	ENST00000409262	T	0.15834	2.39	5.18	5.18	0.71444	Methylcytosine dioxygenase TET, double-stranded beta helix fold domain (1);	0.104024	0.64402	D	0.000003	T	0.43366	0.1244	M	0.72894	2.215	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.32188	-0.9916	10	0.87932	D	0	.	17.6308	0.88106	0.0:1.0:0.0:0.0	.	1541	O43151	TET3_HUMAN	M	1541	ENSP00000386869:T1541M	ENSP00000386869:T1541M	T	+	2	0	TET3	74182450	1.000000	0.71417	0.967000	0.41034	0.303000	0.27691	7.320000	0.79064	2.707000	0.92482	0.655000	0.94253	ACG		0.662	TET3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328141.4			10	47	0	0	0	1	0	10	47					T	74328942	C	T	74328942	3	4	286	1	0	0	0	0	1	0	0	0	15768	536	19	1	4656	1	TET3	2	74328942	Missense_Mutation	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	5151566	74328942	168870431	92	13222											
RTKN	84058	broad.mit.edu	37	chr2	74655813	74655813	+	IGR	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcatgcagagaggctgagctGccagacggcaacacacgcta	12	5	12	12	2	1	3	1	1	0	2	1	4	1	3	1	2	4	5	1	2	2	1			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr2:74655813G>A	ENST00000348227.4	+	0	1147				RTKN_ENST00000272430.5_Missense_Mutation_p.A301V|RTKN_ENST00000305557.5_Missense_Mutation_p.A288V|RTKN_ENST00000233330.6_Missense_Mutation_p.A251V	NM_032118.2	NP_115494.1	Q9H977	WDR54_HUMAN	WD repeat domain 54											breast(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(1)	9						AGGCTGAGCTGCCAGACGGCA	0.627																																						ENST00000305557.5																			0				endometrium(3)|large_intestine(5)|lung(5)|skin(2)|upper_aerodigestive_tract(1)	16						c.(862-864)gCa>gTa		rhotekin							36	35	35					2																	74655813		2203	4300	6503	SO:0001628	intergenic_variant	6242				apoptosis|regulation of anti-apoptosis|Rho protein signal transduction	intracellular	GTP binding|GTP-Rho binding|GTPase inhibitor activity	g.chr2:74655813G>A	AK023015	CCDS1940.1	2p13.1	2013-01-09			ENSG00000005448	ENSG00000005448		"WD repeat domain containing"	25770	protein-coding gene	gene with protein product						12477932	Standard	NM_032118		Approved	FLJ12953	uc002slb.3	Q9H977	OTTHUMG00000129951		2.37:g.74655813G>A						RTKN_ENST00000233330.6_Missense_Mutation_p.A251V|RTKN_ENST00000272430.5_Missense_Mutation_p.A301V	p.A288V	NM_033046.2	NP_149035.1	Q9BST9	RTKN_HUMAN			9	1448	-			301					D6W5I3|Q53H85|Q86V45	Missense_Mutation	SNP	ENST00000348227.4	37	c.863C>T	CCDS1940.1	.	.	.	.	.	.	.	.	.	.	G	6.812	0.518961	0.13005	.	.	ENSG00000114993	ENST00000305557;ENST00000272430;ENST00000233330	T;T;T	0.32272	1.46;1.47;1.47	5.41	2.32	0.28847	.	0.354380	0.32015	N	0.006708	T	0.11537	0.0281	N	0.08118	0	0.47905	D	0.999543	B;B	0.02656	0.0;0.0	B;B	0.10450	0.002;0.005	T	0.24870	-1.0148	10	0.05525	T	0.97	.	7.0591	0.25115	0.3598:0.0:0.6402:0.0	.	301;288	Q9BST9;Q9BST9-2	RTKN_HUMAN;.	V	288;301;251	ENSP00000305298:A288V;ENSP00000272430:A301V;ENSP00000233330:A251V	ENSP00000233330:A251V	A	-	2	0	RTKN	74509321	0.962000	0.33011	0.979000	0.43373	0.954000	0.61252	1.638000	0.37165	0.158000	0.19367	0.563000	0.77884	GCA		0.627	WDR54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252213.1	NM_032118		3	24	0	0	0	1	0	3	24					A	74655813	G	A	74655813	1	1	286	0	1	0	0	0	0	0	0	0	13722	1319	46	3		3	RTKN	2	74655813	IGR	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	326871	74655813	168543560	93	13223											
SEMA4F	10505	broad.mit.edu	37	chr2	74906752	74906752	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagtagtgtttgaagttcccGtggctacagctgcgcatgtg	7	12	13	9	2	0	1	0	1	0	0	1	1	1	1	1	1	3	6	1	1	3	4			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr2:74906752G>A	ENST00000357877.2	+	14	1878	c.1729G>A	c.(1729-1731)Gtg>Atg	p.V577M	SEMA4F_ENST00000339773.5_Missense_Mutation_p.V422M|SEMA4F_ENST00000473350.1_3'UTR	NM_004263.3	NP_004254.2	O95754	SEM4F_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4F	577					axon guidance (GO:0007411)|cell-cell signaling (GO:0007267)|negative regulation of axon extension (GO:0030517)|nervous system development (GO:0007399)|retinal ganglion cell axon guidance (GO:0031290)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	receptor activity (GO:0004872)			biliary_tract(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(2)	45						TGAAGTTCCCGTGGCTACAGC	0.552																																						ENST00000357877.2																			0				biliary_tract(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(2)	45						c.(1729-1731)Gtg>Atg		sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4F							223	203	210					2																	74906752		2203	4300	6503	SO:0001583	missense	10505				cell-cell signaling	endoplasmic reticulum|integral to plasma membrane	receptor activity	g.chr2:74906752G>A	AF038652	CCDS1955.1, CCDS62942.1, CCDS74529.1	2p13.1	2008-05-21			ENSG00000135622	ENSG00000135622		"Semaphorins"	10734	protein-coding gene	gene with protein product	"m-Sema M"	603706		SEMAM		10051670	Standard	NM_004263		Approved	SEMAW	uc002sna.2	O95754	OTTHUMG00000129952	ENST00000357877.2:c.1729G>A	2.37:g.74906752G>A	ENSP00000350547:p.Val577Met					SEMA4F_ENST00000339773.5_Missense_Mutation_p.V422M|SEMA4F_ENST00000473350.1_3'UTR	p.V577M	NM_004263.3	NP_004254.2	O95754	SEM4F_HUMAN			14	1878	+			577					Q542Y7|Q9NS35	Missense_Mutation	SNP	ENST00000357877.2	37	c.1729G>A	CCDS1955.1	.	.	.	.	.	.	.	.	.	.	G	14.28	2.487020	0.44249	.	.	ENSG00000135622	ENST00000357877;ENST00000339773	T;T	0.27557	1.89;1.66	5.11	5.11	0.69529	.	0.396081	0.21365	N	0.075740	T	0.15435	0.0372	N	0.08118	0	0.39053	D	0.960365	P;P	0.47253	0.769;0.892	B;B	0.35278	0.149;0.199	T	0.11717	-1.0576	10	0.52906	T	0.07	.	14.0425	0.64684	0.0:0.0:1.0:0.0	.	422;577	O95754-2;O95754	.;SEM4F_HUMAN	M	577;422	ENSP00000350547:V577M;ENSP00000342675:V422M	ENSP00000342675:V422M	V	+	1	0	SEMA4F	74760260	1.000000	0.71417	0.977000	0.42913	0.903000	0.53119	3.992000	0.56980	2.376000	0.81061	0.467000	0.42956	GTG		0.552	SEMA4F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252214.2	NM_004263		30	193	0	0	0	1	0	30	193					A	74906752	G	A	74906752	3	1	286	1	0	0	0	0	1	0	0	0	14035	1145	40	1	1783	1	SEMA4F	2	74906752	Missense_Mutation	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	250939	74906752	168292621	94	13224											
SNRNP200	23020	broad.mit.edu	37	chr2	96963422	96963422	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttccagatctgtgtccattcGagactgacgcactcgctctc	7	12	8	14	3	2	3	0	1	2	2	7	4	4	3	2	0	0	2	2	0	0	2			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr2:96963422G>A	ENST00000323853.5	-	10	1233	c.1156C>T	c.(1156-1158)Cga>Tga	p.R386*	SNRNP200_ENST00000349783.5_Nonsense_Mutation_p.R386*	NM_014014.4	NP_054733.2	O75643	U520_HUMAN	small nuclear ribonucleoprotein 200kDa (U5)	386					ATP catabolic process (GO:0006200)|cis assembly of pre-catalytic spliceosome (GO:0000354)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|osteoblast differentiation (GO:0001649)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U5 snRNP (GO:0005682)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|ATP-dependent RNA helicase activity (GO:0004004)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|lung(37)|ovary(7)|prostate(4)|skin(5)|stomach(1)|urinary_tract(1)	90						GTGTCCATTCGAGACTGACGC	0.463																																						ENST00000323853.5																			0				breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|lung(37)|ovary(7)|prostate(4)|skin(5)|stomach(1)|urinary_tract(1)	90						c.(1156-1158)Cga>Tga		small nuclear ribonucleoprotein 200kDa (U5)							108	97	101					2																	96963422		2203	4300	6503	SO:0001587	stop_gained	23020					catalytic step 2 spliceosome|nucleoplasm|U5 snRNP	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding	g.chr2:96963422G>A	AL831994	CCDS2020.1	2q11.2	2013-05-13	2008-10-29	2008-10-29	ENSG00000144028	ENSG00000144028			30859	protein-coding gene	gene with protein product	"U5 snRNP specific protein, 200 KD"	601664	"activating signal cointegrator 1 complex subunit 3-like 1", "retinitis pigmentosa 33 (autosomal dominant)"	ASCC3L1, RP33		9872452, 8670905, 9774689, 9539711, 16612614, 19878916	Standard	NM_014014		Approved	U5-200KD, HELIC2, KIAA0788, BRR2	uc002svu.3	O75643	OTTHUMG00000130455	ENST00000323853.5:c.1156C>T	2.37:g.96963422G>A	ENSP00000317123:p.Arg386*					SNRNP200_ENST00000349783.5_Nonsense_Mutation_p.R386*	p.R386*	NM_014014.4	NP_054733.2	O75643	U520_HUMAN			10	1233	-			386					O94884|Q6NZY0|Q6PX59|Q8NBE6|Q96IF2|Q9H7S0	Nonsense_Mutation	SNP	ENST00000323853.5	37	c.1156C>T	CCDS2020.1	.	.	.	.	.	.	.	.	.	.	G	37	6.440531	0.97568	.	.	ENSG00000144028	ENST00000323853;ENST00000349783;ENST00000540328	.	.	.	5.69	3.8	0.43715	.	0.126880	0.53938	D	0.000059	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.10902	T	0.67	-7.1124	13.0031	0.58687	0.0:0.0:0.5826:0.4174	.	.	.	.	X	386;386;61	.	ENSP00000317123:R386X	R	-	1	2	SNRNP200	96327149	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	4.205000	0.58466	1.379000	0.46325	-0.182000	0.12963	CGA		0.463	SNRNP200-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252846.2	NM_014014		6	51	0	0	0	1	0	6	51					A	96963422	G	A	96963422	4	1	286	1	0	0	0	0	0	1	0	0	14852	1066	37	2	5398	2	SNRNP200	2	96963422	Nonsense_Mutation	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	22056670	96963422	146235951	95	13225											
AFF3	3899	broad.mit.edu	37	chr2	100170918	100170918	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gacggggacagggcgctggcGttggagaggctgccctgaga	7	5	20	9	3	0	2	0	1	0	2	0	6	0	3	1	6	1	3	1	6	0	1			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr2:100170918G>A	ENST00000409236.2	-	22	3526	c.3414C>T	c.(3412-3414)aaC>aaT	p.N1138N	AFF3_ENST00000356421.2_Silent_p.N1163N|AFF3_ENST00000317233.4_Silent_p.N1138N|AFF3_ENST00000409579.1_Silent_p.N1163N			P51826	AFF3_HUMAN	AF4/FMR2 family, member 3	1138					embryonic hindlimb morphogenesis (GO:0035116)|regulation of transcription, DNA-templated (GO:0006355)|response to tumor necrosis factor (GO:0034612)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)			NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						GGGCGCTGGCGTTGGAGAGGC	0.637																																						ENST00000317233.4																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						c.(3412-3414)aaC>aaT		AF4/FMR2 family, member 3							65	60	62					2																	100170918		2203	4300	6503	SO:0001819	synonymous_variant	3899				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr2:100170918G>A	U34360	CCDS33258.1, CCDS42723.1	2q11.2-q12	2008-02-05	2005-06-27	2005-06-27	ENSG00000144218	ENSG00000144218			6473	protein-coding gene	gene with protein product		601464	"lymphoid nuclear protein related to AF4"	LAF4		8662235, 8555498	Standard	XM_005263945		Approved	MLLT2-like	uc002taf.3	P51826	OTTHUMG00000153011	ENST00000409236.2:c.3414C>T	2.37:g.100170918G>A						AFF3_ENST00000356421.2_Silent_p.N1163N|AFF3_ENST00000409579.1_Silent_p.N1163N|AFF3_ENST00000409236.1_Silent_p.N1138N	p.N1138N	NM_002285.2	NP_002276.2	P51826	AFF3_HUMAN			23	3649	-			1138					B7ZM46|B9EGL9|D3DVI6|Q53RD6|Q53S47|Q53SI6|Q53TB9|Q59F27|Q8IWJ5	Silent	SNP	ENST00000409236.2	37	c.3414C>T	CCDS42723.1																																																																																				0.637	AFF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328982.3	NM_002285		7	50	0	0	0	1	0	7	50					A	100170918	G	A	100170918	2	1	286	1	0	0	0	0	0	0	0	1	358	1136	40	1		1	AFF3	2	100170918	Silent	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	3207496	100170918	143028455	96	13226											
IL18RAP	8807	broad.mit.edu	37	chr2	103040431	103040431	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctgcccttcatgggtagtaaCgacctatctgatgtccaatg	9	12	9	11	1	2	1	1	1	1	0	3	2	3	1	3	1	2	2	3	1	4	4			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr2:103040431C>T	ENST00000264260.2	+	4	820	c.231C>T	c.(229-231)aaC>aaT	p.N77N	IL18RAP_ENST00000409369.1_Intron	NM_003853.2	NP_003844.1	O95256	I18RA_HUMAN	interleukin 18 receptor accessory protein	77					cell surface receptor signaling pathway (GO:0007166)|immune response (GO:0006955)|inflammatory response (GO:0006954)	integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(4)	37						TGGGTAGTAACGACCTATCTG	0.438																																						ENST00000264260.2																			0				autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(4)	37						c.(229-231)aaC>aaT		interleukin 18 receptor accessory protein							90	82	85					2																	103040431		2203	4300	6503	SO:0001819	synonymous_variant	8807				cell surface receptor linked signaling pathway|inflammatory response|innate immune response	integral to membrane	transmembrane receptor activity	g.chr2:103040431C>T	AF077346	CCDS2061.1	2q12.1	2013-01-11			ENSG00000115607	ENSG00000115607		"Interleukins and interleukin receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5989	protein-coding gene	gene with protein product		604509				9792649	Standard	XM_005264034		Approved	AcPL, CD218b	uc002tbx.3	O95256	OTTHUMG00000130777	ENST00000264260.2:c.231C>T	2.37:g.103040431C>T						IL18RAP_ENST00000409369.1_Intron	p.N77N	NM_003853.2	NP_003844.1	O95256	I18RA_HUMAN			4	820	+			77					B2RPJ3|Q3KPE7|Q3KPE8|Q53TT4|Q53TU5	Silent	SNP	ENST00000264260.2	37	c.231C>T	CCDS2061.1																																																																																				0.438	IL18RAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253291.2	NM_003853		6	25	0	0	0	1	0	6	25					T	103040431	C	T	103040431	2	4	286	1	0	0	0	0	0	0	0	1	7648	535	19	1		1	IL18RAP	2	103040431	Silent	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	2869513	103040431	140158942	97	13227											
MFSD9	84804	broad.mit.edu	37	chr2	103335662	103335662	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctccatggaaagaaccaaacGagacctgttaaaatggcatg	16	7	9	9	1	0	2	0	0	0	2	1	4	1	3	3	2	2	2	3	2	5	1			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr2:103335662G>A	ENST00000258436.5	-	6	685	c.642C>T	c.(640-642)ctC>ctT	p.L214L	MFSD9_ENST00000496253.1_5'Flank	NM_032718.3	NP_116107.3	Q8NBP5	MFSD9_HUMAN	major facilitator superfamily domain containing 9	214					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			breast(3)|large_intestine(7)|liver(1)|lung(6)|ovary(2)|skin(1)	20						AGAACCAAACGAGACCTGTTA	0.483																																						ENST00000258436.5																			0				breast(3)|large_intestine(7)|liver(1)|lung(6)|ovary(2)|skin(1)	20						c.(640-642)ctC>ctT		major facilitator superfamily domain containing 9							66	65	65					2																	103335662		2203	4300	6503	SO:0001819	synonymous_variant	84804				transmembrane transport	integral to membrane|plasma membrane	transporter activity	g.chr2:103335662G>A		CCDS2063.1	2q12.1	2007-01-12			ENSG00000135953	ENSG00000135953			28158	protein-coding gene	gene with protein product							Standard	NM_032718		Approved	MGC11332	uc002tcb.2	Q8NBP5	OTTHUMG00000130781	ENST00000258436.5:c.642C>T	2.37:g.103335662G>A							p.L214L	NM_032718.3	NP_116107.3	Q8NBP5	MFSD9_HUMAN			6	685	-			214					Q4ZG89|Q53TU0|Q96GQ4|Q9BRI8	Silent	SNP	ENST00000258436.5	37	c.642C>T	CCDS2063.1																																																																																				0.483	MFSD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253295.2	NM_032718		13	80	0	0	0	1	0	13	80					A	103335662	G	A	103335662	2	1	286	1	0	0	0	0	0	0	0	1	9539	1045	37	2		2	MFSD9	2	103335662	Silent	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	295231	103335662	139863711	98	13228											
ANAPC1	64682	broad.mit.edu	37	chr2	112604725	112604725	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcaatcgtacctaactcagaGgtggcaatttcaggaatagt	13	11	9	8	1	3	1	3	0	0	1	4	2	3	2	1	3	2	2	1	3	6	4			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr2:112604725G>A	ENST00000341068.3	-	16	2614	c.1842C>T	c.(1840-1842)acC>acT	p.T614T		NM_022662.3	NP_073153.1	Q9H1A4	APC1_HUMAN	anaphase promoting complex subunit 1	614					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(7)|lung(16)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	49						CTAACTCAGAGGTGGCAATTT	0.328																																						ENST00000341068.3																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(7)|lung(16)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	49						c.(1840-1842)acC>acT		anaphase promoting complex subunit 1							71	67	68					2																	112604725		2203	4300	6503	SO:0001819	synonymous_variant	64682				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm		g.chr2:112604725G>A	AJ278357	CCDS2093.1	2q12.1	2011-06-15			ENSG00000153107	ENSG00000153107		"Anaphase promoting complex subunits"	19988	protein-coding gene	gene with protein product		608473				11179667	Standard	NM_022662		Approved	MCPR, TSG24, APC1	uc002ssh.3	Q9H1A4	OTTHUMG00000131277	ENST00000341068.3:c.1842C>T	2.37:g.112604725G>A							p.T614T	NM_022662.3	NP_073153.1	Q9H1A4	APC1_HUMAN			16	2614	-			614					Q2M3H8|Q9BSE6|Q9H8D0	Silent	SNP	ENST00000341068.3	37	c.1842C>T	CCDS2093.1	.	.	.	.	.	.	.	.	.	.	G	8.560	0.877581	0.17395	.	.	ENSG00000153107	ENST00000427997	.	.	.	4.58	0.575	0.17374	.	.	.	.	.	T	0.41903	0.1179	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.20571	-1.0271	4	.	.	.	-15.0939	1.5443	0.02562	0.3089:0.1318:0.4242:0.1351	.	.	.	.	F	149	.	.	L	-	1	0	ANAPC1	112321196	0.938000	0.31826	0.997000	0.53966	0.936000	0.57629	0.011000	0.13264	-0.114000	0.11936	0.460000	0.39030	CTC		0.328	ANAPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254045.2	NM_022662		11	23	0	0	0	1	0	11	23					A	112604725	G	A	112604725	2	1	286	1	0	0	0	0	0	0	0	1	598	987	35	3		3	ANAPC1	2	112604725	Silent	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	9269063	112604725	130594648	99	13229											
CYP27C1	339761	broad.mit.edu	37	chr2	127956952	127956952	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aacaggacccccagactcacCgtgtcgacgccggccagcag	10	3	11	17	4	1	1	1	0	0	1	2	3	1	2	5	2	2	1	5	2	1	0	rs138626696		TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr2:127956952C>T	ENST00000335247.7	-	4	682	c.552G>A	c.(550-552)acG>acA	p.T184T	CYP27C1_ENST00000409327.1_Splice_Site_p.T184T	NM_001001665.3	NP_001001665.3	Q4G0S4	C27C1_HUMAN	cytochrome P450, family 27, subfamily C, polypeptide 1	184						membrane (GO:0016020)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen (GO:0016705)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|stomach(1)	16	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.071)		CCAGACTCACCGTGTCGACGC	0.562													C|||	1	0.000199681	0	0	5008	,	,		19679	0		0.001	False		,,,				2504	0					ENST00000335247.7																			0				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|stomach(1)	16						c.e4+1		cytochrome P450, family 27, subfamily C, polypeptide 1		C		0,4406		0,0,2203	148	132	138		552	0.3	1	2	dbSNP_134	138	2,8598	2.2+/-6.3	0,2,4298	yes	coding-synonymous-near-splice	CYP27C1	NM_001001665.3		0,2,6501	TT,TC,CC		0.0233,0.0,0.0154		184/373	127956952	2,13004	2203	4300	6503	SO:0001630	splice_region_variant	339761					membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen	g.chr2:127956952C>T	AC027142	CCDS33285.1	2q14.3	2008-05-14	2007-05-18		ENSG00000186684	ENSG00000186684		"Cytochrome P450s"	33480	protein-coding gene	gene with protein product							Standard	NM_001001665		Approved	FLJ16008	uc002tod.2	Q4G0S4	OTTHUMG00000153400	ENST00000335247.7:c.552+1G>A	2.37:g.127956952C>T						CYP27C1_ENST00000409327.1_Splice_Site_p.T184_splice	p.T184_splice	NM_001001665.3	NP_001001665.3	Q4G0S4	C27C1_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.071)	4	682	-	Colorectal(110;0.1)		184					Q6ZNI7	Splice_Site	SNP	ENST00000335247.7	37	c.552_splice	CCDS33285.1																																																																																				0.562	CYP27C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331046.1	NM_001001665	Silent	10	107	0	0	0	1	0	10	107					T	127956952	C	T	127956952	5	4	286	1	0	0	0	0	0	0	1	0	4160	666	23	2	586	2	CYP27C1	2	127956952	Splice_Site	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	15352227	127956952	115242421	100	13230											
HS6ST1	9394	broad.mit.edu	37	chr2	129026305	129026305	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gtccgtgccctcgtagcaggGcggcagctcctcaggcgtgg	4	7	16	14	4	1	0	1	0	0	0	4	0	3	0	3	4	3	4	3	4	1	1			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr2:129026305G>A	ENST00000259241.6	-	2	680	c.667C>T	c.(667-669)Ccc>Tcc	p.P223S		NM_004807.2	NP_004798.3	O60243	H6ST1_HUMAN	heparan sulfate 6-O-sulfotransferase 1	223					angiogenesis (GO:0001525)|carbohydrate metabolic process (GO:0005975)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process, enzymatic modification (GO:0015015)|labyrinthine layer blood vessel development (GO:0060716)|lung alveolus development (GO:0048286)|neuron development (GO:0048666)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)	heparan sulfate 6-O-sulfotransferase activity (GO:0017095)|sulfotransferase activity (GO:0008146)			endometrium(3)|liver(1)|lung(7)|pancreas(1)|prostate(2)|skin(1)	15	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.117)		TCGTAGCAGGGCGGCAGCTCC	0.657																																						ENST00000259241.6																			0				endometrium(3)|liver(1)|lung(7)|pancreas(1)|prostate(2)|skin(1)	15						c.(667-669)Ccc>Tcc		heparan sulfate 6-O-sulfotransferase 1							49	61	57					2																	129026305		2168	4280	6448	SO:0001583	missense	9394				heparan sulfate proteoglycan biosynthetic process, enzymatic modification	integral to plasma membrane	sulfotransferase activity	g.chr2:129026305G>A	AB006179	CCDS42748.1	2q21	2010-03-19		2002-08-23	ENSG00000136720	ENSG00000136720		"Sulfotransferases, membrane-bound"	5201	protein-coding gene	gene with protein product		604846		HS6ST		9535912	Standard	NM_004807		Approved		uc002tpt.4	O60243	OTTHUMG00000153542	ENST00000259241.6:c.667C>T	2.37:g.129026305G>A	ENSP00000259241:p.Pro223Ser						p.P223S	NM_004807.2	NP_004798.3	O60243	H6ST1_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.117)	2	680	-	Colorectal(110;0.1)		223					B4DEP2|B4DJ29|Q53SL2|Q9BVI1	Missense_Mutation	SNP	ENST00000259241.6	37	c.667C>T	CCDS42748.1	.	.	.	.	.	.	.	.	.	.	G	7.639	0.680541	0.14907	.	.	ENSG00000136720	ENST00000259241	T	0.39997	1.05	4.85	3.96	0.45880	.	0.108207	0.64402	D	0.000003	T	0.15869	0.0382	N	0.03268	-0.37	0.42346	D	0.992358	B	0.06786	0.001	B	0.10450	0.005	T	0.13764	-1.0497	9	.	.	.	-0.4404	4.5805	0.12257	0.3255:0.0:0.6745:0.0	.	223	O60243	H6ST1_HUMAN	S	223	ENSP00000259241:P223S	.	P	-	1	0	HS6ST1	128742775	1.000000	0.71417	0.984000	0.44739	0.890000	0.51754	3.926000	0.56491	2.235000	0.73313	0.462000	0.41574	CCC		0.657	HS6ST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331572.1	NM_004807		19	94	0	0	0	1	0	19	94					A	129026305	G	A	129026305	3	1	286	1	0	0	0	0	1	0	0	0	7370	1203	42	3	572	3	HS6ST1	2	129026305	Missense_Mutation	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	1069353	129026305	114173068	101	13231											
SMPD4	55627	broad.mit.edu	37	chr2	130911013	130911013	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtgtgaactgcctgagctgcGcttcgctgagctgccagaga	7	9	14	11	2	0	4	0	3	0	1	1	5	0	4	2	0	6	4	2	0	1	1			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr2:130911013G>A	ENST00000409031.1	-	18	3169	c.2021C>T	c.(2020-2022)gCg>gTg	p.A674V	SMPD4_ENST00000443958.2_Missense_Mutation_p.A338V|SMPD4_ENST00000431183.2_Missense_Mutation_p.A572V|SMPD4_ENST00000452225.2_Missense_Mutation_p.A415V|SMPD4_ENST00000339679.7_Missense_Mutation_p.A532V|SMPD4_ENST00000473720.1_5'Flank|SMPD4_ENST00000351288.6_Missense_Mutation_p.A645V|SMPD4_ENST00000453750.1_Missense_Mutation_p.A423V|SMPD4_ENST00000426662.2_Missense_Mutation_p.A310V	NM_017951.4	NP_060421.2	Q9NXE4	NSMA3_HUMAN	sphingomyelin phosphodiesterase 4, neutral membrane (neutral sphingomyelinase-3)	635					cellular response to tumor necrosis factor (GO:0071356)|ceramide biosynthetic process (GO:0046513)|glycerophospholipid catabolic process (GO:0046475)|glycosphingolipid metabolic process (GO:0006687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)|sphingomyelin catabolic process (GO:0006685)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|trans-Golgi network (GO:0005802)	metal ion binding (GO:0046872)|sphingomyelin phosphodiesterase activity (GO:0004767)|sphingomyelin phosphodiesterase D activity (GO:0050290)			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(17)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	29	Colorectal(110;0.1)				Phosphatidylserine(DB00144)	CCTGAGCTGCGCTTCGCTGAG	0.567																																						ENST00000409031.1																			0				breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(17)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	29						c.(2020-2022)gCg>gTg		sphingomyelin phosphodiesterase 4, neutral membrane (neutral sphingomyelinase-3)	Phosphatidylserine(DB00144)						68	58	61					2																	130911013		2203	4300	6503	SO:0001583	missense	55627				sphingomyelin catabolic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|trans-Golgi network	metal ion binding|protein binding|sphingomyelin phosphodiesterase activity|sphingomyelin phosphodiesterase D activity	g.chr2:130911013G>A	AF052134	CCDS2156.2, CCDS42751.1, CCDS54398.1	2q21.1	2009-11-06			ENSG00000136699	ENSG00000136699			32949	protein-coding gene	gene with protein product		610457				16517606	Standard	NM_001171083		Approved	FLJ20297, FLJ20756, nSMase-3, KIAA1418, NSMASE3, NET13	uc002tqr.2	Q9NXE4	OTTHUMG00000131624	ENST00000409031.1:c.2021C>T	2.37:g.130911013G>A	ENSP00000386531:p.Ala674Val					SMPD4_ENST00000452225.2_Missense_Mutation_p.A415V|SMPD4_ENST00000339679.7_Missense_Mutation_p.A532V|SMPD4_ENST00000431183.2_Missense_Mutation_p.A572V|SMPD4_ENST00000426662.2_Missense_Mutation_p.A310V|SMPD4_ENST00000351288.6_Missense_Mutation_p.A645V|SMPD4_ENST00000453750.1_Missense_Mutation_p.A423V|SMPD4_ENST00000443958.2_Missense_Mutation_p.A338V	p.A674V	NM_017951.4	NP_060421.2	Q9NXE4	NSMA3_HUMAN			18	3169	-	Colorectal(110;0.1)		635					B4DM23|B4DQ31|B4DRB8|B4DWK7|B4E0L6|E7ESA2|E9PCE6|Q6FI76|Q6P1P7|Q6ZT43|Q9H0M2|Q9NW20|Q9NWL2|Q9P2C9	Missense_Mutation	SNP	ENST00000409031.1	37	c.2021C>T	CCDS42751.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	14.54|14.54	2.565772|2.565772	0.45694|0.45694	.|.	.|.	ENSG00000136699|ENSG00000136699	ENST00000351288;ENST00000409031;ENST00000431183;ENST00000453750;ENST00000443958;ENST00000339679;ENST00000452225;ENST00000426662;ENST00000449159|ENST00000439886	.|.	.|.	.|.	4.09|4.09	4.09|4.09	0.47781|0.47781	.|.	0.292525|.	0.37530|.	N|.	0.002052|.	T|T	0.57784|0.57784	0.2077|0.2077	L|L	0.53249|0.53249	1.67|1.67	0.31380|0.31380	N|N	0.679087|0.679087	D;P;P;P;P;D;P;D;D;D|.	0.63880|.	0.966;0.952;0.78;0.636;0.953;0.993;0.934;0.988;0.977;0.988|.	B;P;B;B;B;P;P;P;P;P|.	0.52159|.	0.324;0.544;0.089;0.2;0.211;0.691;0.586;0.457;0.517;0.544|.	T|T	0.62374|0.62374	-0.6868|-0.6868	9|5	0.42905|.	T|.	0.14|.	.|.	13.8586|13.8586	0.63545|0.63545	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	310;415;572;532;423;606;635;674;681;206|.	B4E0L6;B4DQ31;E7ESA2;B4E0T5;B4DM23;Q9NXE4-2;Q9NXE4;B1PBA3;Q9NXE4-4;Q9NXE4-5|.	.;.;.;.;.;.;NSMA3_HUMAN;.;.;.|.	V|C	645;674;572;423;338;532;415;310;184|549	.|.	ENSP00000339721:A532V|.	A|R	-|-	2|1	0|0	SMPD4|SMPD4	130627483|130627483	1.000000|1.000000	0.71417|0.71417	0.939000|0.939000	0.37840|0.37840	0.025000|0.025000	0.11179|0.11179	4.146000|4.146000	0.58072|0.58072	1.820000|1.820000	0.53075|0.53075	0.549000|0.549000	0.68633|0.68633	GCG|CGC		0.567	SMPD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254516.3	NM_017751		14	54	0	0	0	1	0	14	54					A	130911013	G	A	130911013	3	1	286	1	0	0	0	0	1	0	0	0	14807	1087	38	1	591	1	SMPD4	2	130911013	Missense_Mutation	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	1884708	130911013	112288360	102	13232											
CCDC74A	90557	broad.mit.edu	37	chr2	132290249	132290249	+	Frame_Shift_Del	DEL	C	C	-																															cagatgggggcgggggcacaCcccccaatgatcctgcccct																										TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr2:132290249delC	ENST00000295171.6	+	5	909	c.771delC	c.(769-771)cacfs	p.H257fs	CCDC74A_ENST00000409856.3_Frame_Shift_Del_p.H191fs|CCDC74A_ENST00000467992.2_3'UTR	NM_001258304.1|NM_001258305.1|NM_138770.2	NP_001245233.1|NP_001245234.1|NP_620125.1	Q96AQ1	CC74A_HUMAN	coiled-coil domain containing 74A	257										endometrium(4)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19						CGGGGGCACACCCCCCAATGA	0.602																																						ENST00000295171.6																			0				endometrium(4)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19						c.(769-771)cafs		coiled-coil domain containing 74A							103	106	105					2																	132290249		2203	4300	6503	SO:0001589	frameshift_variant	90557							g.chr2:132290249delC		CCDS2167.1, CCDS58732.1, CCDS74578.1	2q21.1	2008-02-05		2006-02-16	ENSG00000163040	ENSG00000163040			25197	protein-coding gene	gene with protein product						12477932	Standard	NM_138770		Approved	FLJ40345	uc002ttb.4	Q96AQ1	OTTHUMG00000131667	ENST00000295171.6:c.771delC	2.37:g.132290249delC	ENSP00000295171:p.His257fs					CCDC74A_ENST00000409856.3_Frame_Shift_Del_p.H191fs|CCDC74A_ENST00000467992.2_3'UTR	p.H257fs	NM_001258304.1|NM_001258305.1|NM_138770.2	NP_001245233.1|NP_001245234.1|NP_620125.1	Q96AQ1	CC74A_HUMAN			5	909	+			257					Q6P4I5	Frame_Shift_Del	DEL	ENST00000295171.6	37	c.771delC	CCDS2167.1																																																																																				0.602	CCDC74A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254570.2	NM_138770		19	171						19	171	---	---	---	---	-	132290249	C	-	132290249	7	5	286	1	0	1	0	1	0	0	0	0	2847	506	18	0	789	0	CCDC74A	2	132290249	Frame_Shift_Del	DEL	C	TCGA-J9-A52C-01A-11D-A26M-08	1379236	132290249	110909124	103	13233											
NCKAP5	344148	broad.mit.edu	37	chr2	133540274	133540274	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcagactttggagggatcctCaaaggcaacttacttgggct	10	11	11	9	0	2	1	2	0	0	1	3	3	3	3	1	4	2	2	1	4	3	3			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr2:133540274C>T	ENST00000409261.1	-	14	4483	c.4110G>A	c.(4108-4110)ttG>ttA	p.L1370L	NCKAP5_ENST00000405974.3_Intron|NCKAP5_ENST00000409213.1_Intron|NCKAP5_ENST00000317721.6_Silent_p.L1370L|NCKAP5_ENST00000473859.1_5'Flank	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	1370										NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						GAGGGATCCTCAAAGGCAACT	0.622																																						ENST00000409261.1																			0				NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						c.(4108-4110)ttG>ttA		NCK-associated protein 5							48	50	49					2																	133540274		1952	4138	6090	SO:0001819	synonymous_variant	344148						protein binding	g.chr2:133540274C>T	AB005217	CCDS46417.1, CCDS46418.1	2q21.2	2010-02-17			ENSG00000176771	ENSG00000176771			29847	protein-coding gene	gene with protein product	"Nck associated protein 5", "peripheral clock protein"	608789				9344857	Standard	NM_207363		Approved	NAP5, ERIH1, ERIH2	uc002ttp.3	O14513	OTTHUMG00000153573	ENST00000409261.1:c.4110G>A	2.37:g.133540274C>T						NCKAP5_ENST00000409213.1_Intron|NCKAP5_ENST00000317721.6_Silent_p.L1370L|NCKAP5_ENST00000405974.3_Intron	p.L1370L	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN			14	4483	-			1370					B8ZZL0|Q29SS9|Q29ST0|Q2NL90|Q6ZVE2|Q8NAS3	Silent	SNP	ENST00000409261.1	37	c.4110G>A	CCDS46418.1																																																																																				0.622	NCKAP5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331663.1	NM_207481		12	48	0	0	0	1	0	12	48					T	133540274	C	T	133540274	2	4	286	1	0	0	0	0	0	0	0	1	10223	825	29	3		3	NCKAP5	2	133540274	Silent	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	1250025	133540274	109659099	104	13234											
LCT	3938	broad.mit.edu	37	chr2	136574943	136574943	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cactcctgggtcagagatgcCgggagggtgctggccggtgc	5	7	18	11	2	1	1	1	0	0	1	2	3	2	2	3	5	3	1	3	5	0	0	rs147029208		TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr2:136574943C>T	ENST00000264162.2	-	6	1685	c.1675G>A	c.(1675-1677)Ggc>Agc	p.G559S	AC011893.3_ENST00000437007.1_RNA	NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	559	4 X approximate repeats.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	glycosylceramidase activity (GO:0017042)|lactase activity (GO:0000016)			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)	Vitamin C(DB00126)	TCAGAGATGCCGGGAGGGTGC	0.552																																						ENST00000264162.2																			0				breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124						c.(1675-1677)Ggc>Agc		lactase		C	SER/GLY	0,4406		0,0,2203	60	61	61		1675	5.3	1	2	dbSNP_134	61	1,8599	1.2+/-3.3	0,1,4299	no	missense	LCT	NM_002299.2	56	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	559/1928	136574943	1,13005	2203	4300	6503	SO:0001583	missense	3938				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity	g.chr2:136574943C>T	X07994	CCDS2178.1	2q21	2014-09-17			ENSG00000115850	ENSG00000115850	3.2.1.108, 3.2.1.62		6530	protein-coding gene	gene with protein product		603202					Standard	NM_002299		Approved		uc002tuu.1	P09848	OTTHUMG00000131738	ENST00000264162.2:c.1675G>A	2.37:g.136574943C>T	ENSP00000264162:p.Gly559Ser						p.G559S	NM_002299.2	NP_002290.2	P09848	LPH_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.169)	6	1685	-			559			4 X approximate repeats.		Q4ZG58	Missense_Mutation	SNP	ENST00000264162.2	37	c.1675G>A	CCDS2178.1	.	.	.	.	.	.	.	.	.	.	C	17.39	3.377616	0.61735	0.0	1.16E-4	ENSG00000115850	ENST00000264162	T	0.42513	0.97	5.34	5.34	0.76211	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.170325	0.52532	D	0.000071	T	0.55162	0.1903	M	0.72479	2.2	0.39452	D	0.967425	D	0.60160	0.987	P	0.50970	0.655	T	0.55566	-0.8121	10	0.33141	T	0.24	-14.8671	19.4091	0.94662	0.0:1.0:0.0:0.0	.	559	P09848	LPH_HUMAN	S	559	ENSP00000264162:G559S	ENSP00000264162:G559S	G	-	1	0	LCT	136291413	0.963000	0.33076	0.999000	0.59377	0.292000	0.27327	2.229000	0.42990	2.651000	0.90000	0.561000	0.74099	GGC		0.552	LCT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254657.1	NM_002299		9	57	0	0	0	1	0	9	57					T	136574943	C	T	136574943	3	4	286	1	0	0	0	0	1	0	0	0	8693	652	23	2	4156	2	LCT	2	136574943	Missense_Mutation	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	3034669	136574943	106624430	105	13235											
TANC1	85461	broad.mit.edu	37	chr2	160080827	160080827	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tggacagagccatcggctgcCggaacacatctgtagtggtg	9	8	14	10	2	1	1	0	0	1	1	2	3	1	3	2	4	3	2	2	4	2	1			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr2:160080827C>T	ENST00000263635.6	+	23	4000	c.3763C>T	c.(3763-3765)Cgg>Tgg	p.R1255W	TANC1_ENST00000454300.1_Missense_Mutation_p.R1149W	NM_001145909.1|NM_033394.2	NP_001139381.1|NP_203752.2	Q9C0D5	TANC1_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1	1255					dendritic spine maintenance (GO:0097062)|myoblast fusion (GO:0007520)|visual learning (GO:0008542)	axon terminus (GO:0043679)|cell junction (GO:0030054)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)				breast(3)|central_nervous_system(4)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(25)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	77						CATCGGCTGCCGGAACACATC	0.597																																						ENST00000263635.6																			0				breast(3)|central_nervous_system(4)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(25)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	77						c.(3763-3765)Cgg>Tgg		tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1							47	57	54					2																	160080827		2120	4229	6349	SO:0001583	missense	85461					cell junction|postsynaptic density|postsynaptic membrane	binding	g.chr2:160080827C>T	AB051515	CCDS42766.1	2q24.2	2013-01-11			ENSG00000115183	ENSG00000115183		"Ankyrin repeat domain containing", "Tetratricopeptide (TTC) repeat domain containing"	29364	protein-coding gene	gene with protein product	"rolling pebbles homolog B (Drosophila)"	611397				15673434	Standard	NM_033394		Approved	KIAA1728, ROLSB	uc002uag.3	Q9C0D5	OTTHUMG00000153945	ENST00000263635.6:c.3763C>T	2.37:g.160080827C>T	ENSP00000263635:p.Arg1255Trp					TANC1_ENST00000454300.1_Missense_Mutation_p.R1149W	p.R1255W	NM_001145909.1|NM_033394.2	NP_001139381.1|NP_203752.2	Q9C0D5	TANC1_HUMAN			23	4000	+			1255					C9JD88|Q49AI8	Missense_Mutation	SNP	ENST00000263635.6	37	c.3763C>T	CCDS42766.1	.	.	.	.	.	.	.	.	.	.	C	16.60	3.169121	0.57584	.	.	ENSG00000115183	ENST00000454300;ENST00000263635	T;T	0.65732	-0.17;2.37	5.08	4.14	0.48551	Ankyrin repeat-containing domain (4);	0.000000	0.85682	D	0.000000	T	0.77082	0.4078	M	0.73319	2.225	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;0.999	T	0.80248	-0.1461	10	0.87932	D	0	.	14.2878	0.66256	0.1493:0.8507:0.0:0.0	.	1247;1149;1255	B9EK39;Q9C0D5-2;Q9C0D5	.;.;TANC1_HUMAN	W	1149;1255	ENSP00000396339:R1149W;ENSP00000263635:R1255W	ENSP00000263635:R1255W	R	+	1	2	TANC1	159789073	1.000000	0.71417	1.000000	0.80357	0.286000	0.27126	1.912000	0.39946	2.359000	0.80004	0.563000	0.77884	CGG		0.597	TANC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333135.1			4	51	0	0	0	1	0	4	51					T	160080827	C	T	160080827	3	4	286	1	0	0	0	0	1	0	0	0	15541	643	23	2	3845	2	TANC1	2	160080827	Missense_Mutation	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	23505884	160080827	83118546	106	13236											
DPP4	1803	broad.mit.edu	37	chr2	162875737	162875737	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttgacagagctcttacttatAaagattccttcctcctggca	10	14	6	11	0	1	3	0	1	1	2	4	3	4	3	3	1	2	2	3	1	4	6			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr2:162875737A>G	ENST00000360534.3	-	15	1854	c.1294T>C	c.(1294-1296)Tat>Cat	p.Y432H	DPP4_ENST00000491591.1_5'Flank	NM_001935.3	NP_001926.2	P27487	DPP4_HUMAN	dipeptidyl-peptidase 4	432					cell adhesion (GO:0007155)|endothelial cell migration (GO:0043542)|negative regulation of extracellular matrix disassembly (GO:0010716)|positive regulation of cell proliferation (GO:0008284)|regulation of cell-cell adhesion mediated by integrin (GO:0033632)|response to hypoxia (GO:0001666)|T cell activation (GO:0042110)|T cell costimulation (GO:0031295)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|endocytic vesicle (GO:0030139)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intercellular canaliculus (GO:0046581)|invadopodium membrane (GO:0071438)|lamellipodium (GO:0030027)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|plasma membrane (GO:0005886)	dipeptidyl-peptidase activity (GO:0008239)|identical protein binding (GO:0042802)|protease binding (GO:0002020)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	48					Alogliptin(DB06203)|Atorvastatin(DB01076)|Linagliptin(DB08882)|Liraglutide(DB06655)|Saxagliptin(DB06335)|Sitagliptin(DB01261)|Vildagliptin(DB04876)	TCTTACTTATAAAGATTCCTT	0.284																																						ENST00000360534.3																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	48						c.(1294-1296)Tat>Cat		dipeptidyl-peptidase 4	Sitagliptin(DB01261)						58	63	61					2																	162875737		2202	4297	6499	SO:0001583	missense	1803				cell adhesion|endothelial cell migration|negative regulation of extracellular matrix disassembly|positive regulation of cell proliferation|proteolysis|regulation of cell-cell adhesion mediated by integrin|response to hypoxia|T cell activation|T cell costimulation	apical plasma membrane|cell surface|endocytic vesicle|extracellular region|integral to membrane|invadopodium membrane|lamellipodium membrane|membrane raft	aminopeptidase activity|dipeptidyl-peptidase activity|protease binding|protein homodimerization activity|receptor activity|receptor binding|serine-type endopeptidase activity	g.chr2:162875737A>G	M74777	CCDS2216.1	2q24.2	2013-09-19	2008-08-01		ENSG00000197635	ENSG00000197635	3.4.14.5	"CD molecules"	3009	protein-coding gene	gene with protein product		102720	"dipeptidylpeptidase IV (CD26, adenosine deaminase complexing protein 2)", "adenosine deaminase complexing protein 2"	CD26, ADCP2		8101391	Standard	NM_001935		Approved	DPPIV	uc002ubz.3	P27487	OTTHUMG00000132056	ENST00000360534.3:c.1294T>C	2.37:g.162875737A>G	ENSP00000353731:p.Tyr432His						p.Y432H	NM_001935.3	NP_001926.2	P27487	DPP4_HUMAN			15	1854	-			432					Q53TN1	Missense_Mutation	SNP	ENST00000360534.3	37	c.1294T>C	CCDS2216.1	.	.	.	.	.	.	.	.	.	.	A	27.1	4.799114	0.90538	.	.	ENSG00000197635	ENST00000360534	T	0.68331	-0.32	5.9	5.9	0.94986	Peptidase S9B, dipeptidylpeptidase IV N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.84284	0.5438	M	0.86864	2.845	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.86791	0.1985	10	0.66056	D	0.02	.	16.3245	0.82970	1.0:0.0:0.0:0.0	.	432	P27487	DPP4_HUMAN	H	432	ENSP00000353731:Y432H	ENSP00000353731:Y432H	Y	-	1	0	DPP4	162583983	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	8.190000	0.89714	2.254000	0.74563	0.460000	0.39030	TAT		0.284	DPP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255079.2			11	44	0	0	0	1	0	11	44					G	162875737	A	G	162875737	3	3	286	1	0	0	0	0	1	0	0	0	4729	362	13	4	1054	4	DPP4	2	162875737	Missense_Mutation	SNP	A	TCGA-J9-A52C-01A-11D-A26M-08	2794910	162875737	80323636	107	13237											
LRP2	4036	broad.mit.edu	37	chr2	170048428	170048428	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtgcaattctgattctcatcGtagccgtcagtacaatccac	10	12	7	12	2	3	1	2	1	2	0	6	1	4	1	2	0	3	3	2	0	4	4			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr2:170048428G>A	ENST00000263816.3	-	48	9231	c.8946C>T	c.(8944-8946)taC>taT	p.Y2982Y		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	2982	LDL-receptor class A 22. {ECO:0000255|PROSITE-ProRule:PRU00124}.			Y -> H (in Ref. 3; AAB02882). {ECO:0000305}.	cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)	p.Y2982Y(1)		biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"	GATTCTCATCGTAGCCGTCAG	0.473																																						ENST00000263816.3																			1	Substitution - coding silent(1)	p.Y2982Y(1)	large_intestine(1)	biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315						c.(8944-8946)taC>taT		low density lipoprotein receptor-related protein 2	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)						99	92	94					2																	170048428		2203	4300	6503	SO:0001819	synonymous_variant	4036				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding	g.chr2:170048428G>A		CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"Low density lipoprotein receptors"	6694	protein-coding gene	gene with protein product	"megalin"	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.8946C>T	2.37:g.170048428G>A							p.Y2982Y	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN		STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	48	9231	-			2982	Y -> H (in Ref. 3; AAB02882).		LDL-receptor class A 22.		O00711|Q16215	Silent	SNP	ENST00000263816.3	37	c.8946C>T	CCDS2232.1																																																																																				0.473	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2	NM_004525		4	60	0	0	0	1	0	4	60					A	170048428	G	A	170048428	2	1	286	1	0	0	0	0	0	0	0	1	8956	1140	40	1		1	LRP2	2	170048428	Silent	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	7172691	170048428	73150945	108	13238											
HOXD10	3236	broad.mit.edu	37	chr2	176981919	176981919	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gctgcatgtattctgataagCgcaacaaactcatttcggcc	11	11	8	11	2	2	1	1	1	1	0	3	1	2	1	1	1	4	4	1	1	4	4	rs558548040		TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr2:176981919C>T	ENST00000249501.4	+	1	613	c.358C>T	c.(358-360)Cgc>Tgc	p.R120C	HOXD10_ENST00000490088.2_Intron	NM_002148.3	NP_002139.2	P28358	HXD10_HUMAN	homeobox D10	120					adult locomotory behavior (GO:0008344)|anterior/posterior pattern specification (GO:0009952)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal system morphogenesis (GO:0048704)|forelimb morphogenesis (GO:0035136)|hindlimb morphogenesis (GO:0035137)|neuromuscular process (GO:0050905)|peripheral nervous system neuron development (GO:0048935)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proximal/distal pattern formation (GO:0009954)|single fertilization (GO:0007338)|skeletal muscle tissue development (GO:0007519)|spinal cord motor neuron cell fate specification (GO:0021520)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	17			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	Colorectal(32;0.0226)|READ - Rectum adenocarcinoma(9;0.0556)		TTCTGATAAGCGCAACAAACT	0.493																																						ENST00000249501.4																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	17						c.(358-360)Cgc>Tgc		homeobox D10							154	164	161					2																	176981919		2203	4300	6503	SO:0001583	missense	3236					nucleus	sequence-specific DNA binding	g.chr2:176981919C>T		CCDS2266.1	2q31.1	2014-09-17	2005-12-22		ENSG00000128710	ENSG00000128710		"Homeoboxes / ANTP class : HOXL subclass"	5133	protein-coding gene	gene with protein product		142984	"homeo box D10"	HOX4, HOX4D		1973146, 1358459	Standard	NM_002148		Approved		uc002ukj.3	P28358	OTTHUMG00000132511	ENST00000249501.4:c.358C>T	2.37:g.176981919C>T	ENSP00000249501:p.Arg120Cys					HOXD10_ENST00000490088.2_Intron	p.R120C	NM_002148.3	NP_002139.2	P28358	HXD10_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	Colorectal(32;0.0226)|READ - Rectum adenocarcinoma(9;0.0556)	1	613	+			120					Q6NT10	Missense_Mutation	SNP	ENST00000249501.4	37	c.358C>T	CCDS2266.1	.	.	.	.	.	.	.	.	.	.	C	10.05	1.244544	0.22796	.	.	ENSG00000128710	ENST00000249501	T	0.36340	1.26	5.99	5.09	0.68999	.	0.000000	0.85682	D	0.000000	T	0.32133	0.0819	L	0.43701	1.375	0.80722	D	1	B	0.14438	0.01	B	0.04013	0.001	T	0.05386	-1.0888	10	0.48119	T	0.1	.	14.0125	0.64505	0.319:0.681:0.0:0.0	.	120	P28358	HXD10_HUMAN	C	120	ENSP00000249501:R120C	ENSP00000249501:R120C	R	+	1	0	HOXD10	176690165	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.241000	0.65384	2.847000	0.97988	0.655000	0.94253	CGC		0.493	HOXD10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255692.2			24	90	0	0	0	1	0	24	90					T	176981919	C	T	176981919	3	4	286	1	0	0	0	0	1	0	0	0	7319	768	27	1	360	1	HOXD10	2	176981919	Missense_Mutation	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	6933491	176981919	66217454	109	13239											
HOXD3	3232	broad.mit.edu	37	chr2	177036519	177036519	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcccctgagcgcagcccaccGctcggcggcgccgctggcca	4	4	13	20	6	0	1	0	1	0	0	2	1	1	1	6	3	2	3	6	3	0	0			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr2:177036519G>A	ENST00000468418.3	+	4	2906	c.816G>A	c.(814-816)ccG>ccA	p.P272P	HOXD3_ENST00000249440.3_Silent_p.P272P|HOXD3_ENST00000410016.1_Silent_p.P272P|HOXD-AS1_ENST00000416928.2_RNA			P31249	HXD3_HUMAN	homeobox D3	272					anterior/posterior pattern specification (GO:0009952)|cartilage development (GO:0051216)|cell-matrix adhesion (GO:0007160)|embryonic skeletal system morphogenesis (GO:0048704)|Notch signaling pathway (GO:0007219)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron differentiation (GO:0045666)|thyroid gland development (GO:0030878)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(11)|prostate(1)|upper_aerodigestive_tract(2)	23			OV - Ovarian serous cystadenocarcinoma(117;0.00569)|Epithelial(96;0.0864)|all cancers(119;0.226)	Colorectal(32;0.247)		GCAGCCCACCGCTCGGCGGCG	0.687																																						ENST00000468418.3																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(11)|prostate(1)|upper_aerodigestive_tract(2)	23						c.(814-816)ccG>ccA		homeobox D3							22	24	23					2																	177036519		2202	4295	6497	SO:0001819	synonymous_variant	3232				anterior/posterior pattern formation|cartilage development|cell-matrix adhesion|embryonic skeletal system morphogenesis|Notch signaling pathway|positive regulation of gene expression|positive regulation of neuron differentiation|thyroid gland development		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:177036519G>A		CCDS2270.1	2q31.1	2011-06-20	2005-12-22		ENSG00000128652	ENSG00000128652		"Homeoboxes / ANTP class : HOXL subclass"	5137	protein-coding gene	gene with protein product		142980	"homeo box D3"	HOX4A, HOX4, HOX1D		1973146, 1358459	Standard	NM_006898		Approved		uc002ukt.1	P31249	OTTHUMG00000132517	ENST00000468418.3:c.816G>A	2.37:g.177036519G>A						HOXD3_ENST00000410016.1_Silent_p.P272P|HOXD3_ENST00000249440.3_Silent_p.P272P	p.P272P			P31249	HXD3_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00569)|Epithelial(96;0.0864)|all cancers(119;0.226)	Colorectal(32;0.247)	4	2906	+			272					Q99955|Q9BSC5	Silent	SNP	ENST00000468418.3	37	c.816G>A	CCDS2270.1																																																																																				0.687	HOXD3-005	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334246.4			7	49	0	0	0	1	0	7	49					A	177036519	G	A	177036519	2	1	286	1	0	0	0	0	0	0	0	1	7323	1074	38	1		1	HOXD3	2	177036519	Silent	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	54600	177036519	66162854	110	13240											
OSBPL6	114880	broad.mit.edu	37	chr2	179213981	179213981	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtgctaccatgtcaccagttCgcttgcattcctccaacccc	7	11	6	17	1	1	0	1	0	0	0	4	0	3	0	6	0	4	4	6	0	2	4			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr2:179213981C>T	ENST00000190611.4	+	12	1394	c.1018C>T	c.(1018-1020)Cgc>Tgc	p.R340C	OSBPL6_ENST00000357080.4_Missense_Mutation_p.R309C|OSBPL6_ENST00000409045.3_Missense_Mutation_p.R309C|OSBPL6_ENST00000409631.1_Missense_Mutation_p.R340C|OSBPL6_ENST00000392505.2_Missense_Mutation_p.R365C|OSBPL6_ENST00000359685.3_Missense_Mutation_p.R340C|OSBPL6_ENST00000315022.2_Missense_Mutation_p.R344C	NM_032523.3	NP_115912.1	Q9BZF3	OSBL6_HUMAN	oxysterol binding protein-like 6	340					lipid transport (GO:0006869)	cytosol (GO:0005829)|nuclear membrane (GO:0031965)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(18)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00578)|Epithelial(96;0.00847)|all cancers(119;0.0335)			GTCACCAGTTCGCTTGCATTC	0.423																																						ENST00000190611.4																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(18)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	46						c.(1018-1020)Cgc>Tgc		oxysterol binding protein-like 6							253	241	245					2																	179213981		2203	4300	6503	SO:0001583	missense	114880				lipid transport		lipid binding	g.chr2:179213981C>T	AF392448	CCDS2277.1, CCDS2278.1, CCDS56150.1, CCDS56151.1, CCDS56152.1	2q32.1	2008-05-27			ENSG00000079156	ENSG00000079156		"Oxysterol binding proteins"	16388	protein-coding gene	gene with protein product	"OSBP-related protein 6"	606734				11483621	Standard	NM_001201480		Approved	ORP6	uc002uly.3	Q9BZF3	OTTHUMG00000132579	ENST00000190611.4:c.1018C>T	2.37:g.179213981C>T	ENSP00000190611:p.Arg340Cys					OSBPL6_ENST00000392505.2_Missense_Mutation_p.R365C|OSBPL6_ENST00000315022.2_Missense_Mutation_p.R344C|OSBPL6_ENST00000409045.3_Missense_Mutation_p.R309C|OSBPL6_ENST00000359685.3_Missense_Mutation_p.R340C|OSBPL6_ENST00000357080.4_Missense_Mutation_p.R309C|OSBPL6_ENST00000409631.1_Missense_Mutation_p.R340C	p.R340C	NM_032523.3	NP_115912.1	Q9BZF3	OSBL6_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00578)|Epithelial(96;0.00847)|all cancers(119;0.0335)		12	1394	+			340					B4DTW1|C4AMC0|C4AME4|D3DPF6|D3DPF7|Q4ZG68|Q53T68|Q59H61|Q7Z4Q1|Q86V84|Q8N9T0|Q96SR1	Missense_Mutation	SNP	ENST00000190611.4	37	c.1018C>T	CCDS2277.1	.	.	.	.	.	.	.	.	.	.	C	25.1	4.602535	0.87157	.	.	ENSG00000079156	ENST00000392505;ENST00000359685;ENST00000361154;ENST00000357080;ENST00000409045;ENST00000190611;ENST00000409631;ENST00000315022	T;T;T;T;T;T;T	0.32515	2.39;2.41;1.45;2.24;2.56;2.41;2.39	5.5	4.59	0.56863	.	0.000000	0.85682	D	0.000000	T	0.51787	0.1695	L	0.60455	1.87	0.80722	D	1	P;D;D;D;D;D	0.89917	0.873;1.0;1.0;1.0;1.0;1.0	P;D;D;D;D;D	0.91635	0.479;0.999;0.988;0.999;0.993;0.997	T	0.52510	-0.8566	10	0.62326	D	0.03	-12.135	15.6747	0.77307	0.1376:0.8624:0.0:0.0	.	309;344;340;365;340;309	Q9BZF3-4;Q9BZF3-3;Q9BZF3-2;Q9BZF3-5;Q9BZF3;Q86V84	.;.;.;.;OSBL6_HUMAN;.	C	365;340;125;309;309;340;340;344	ENSP00000376293:R365C;ENSP00000352713:R340C;ENSP00000349591:R309C;ENSP00000387248:R309C;ENSP00000190611:R340C;ENSP00000386885:R340C;ENSP00000318723:R344C	ENSP00000190611:R340C	R	+	1	0	OSBPL6	178922227	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	5.572000	0.67411	2.595000	0.87683	0.655000	0.94253	CGC		0.423	OSBPL6-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000334393.2	NM_032523		32	146	0	0	0	1	0	32	146					T	179213981	C	T	179213981	3	4	286	1	0	0	0	0	1	0	0	0	11281	884	31	2	1178	2	OSBPL6	2	179213981	Missense_Mutation	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	2177462	179213981	63985392	111	13241											
TTN	7273	broad.mit.edu	37	chr2	179588313	179588313	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cactagttctctggcacctcTgaaccagttgactttgaatg	9	13	8	11	0	2	3	0	3	2	0	3	3	2	3	2	1	1	3	2	1	3	4			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr2:179588313T>G	ENST00000591111.1	-	72	20787	c.20563A>C	c.(20563-20565)Aga>Cga	p.R6855R	TTN_ENST00000342992.6_Silent_p.R5928R|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|RP11-171I2.1_ENST00000590024.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000589042.1_Silent_p.R7172R			Q8WZ42	TITIN_HUMAN	titin	12446	Ig-like 50.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTGGCACCTCTGAACCAGTTG	0.413																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(21514-21516)Aga>Cga		titin							66	63	64					2																	179588313		1853	4088	5941	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179588313T>G	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.20563A>C	2.37:g.179588313T>G						TTN_ENST00000591111.1_Silent_p.R6855R|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Silent_p.R5928R|RP11-171I2.1_ENST00000590024.1_RNA|TTN_ENST00000359218.5_Intron	p.R7172R	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		74	21738	-			6855			Ig-like 53.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	ENST00000591111.1	37	c.21514A>C																																																																																					0.413	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		3	18	0	0	0	1	0	3	18					G	179588313	T	G	179588313	2	3	286	1	0	0	0	0	0	0	0	1	16732	1588	55	5		5	TTN	2	179588313	Silent	SNP	T	TCGA-J9-A52C-01A-11D-A26M-08	374332	179588313	63611060	112	13242											
TTN	7273	broad.mit.edu	37	chr2	179610612	179610612	+	Intron	DEL	A	A	-																															ccttccaccacctgaaattcAaaaaaactgtctgtgtagtt																										TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr2:179610612delA	ENST00000591111.1	-	46	10585				TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000360870.5_Frame_Shift_Del_p.F5505fs|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000589042.1_Intron			Q8WZ42	TITIN_HUMAN	titin						adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CCTGAAATTCAAAAAAACTGT	0.378																																						ENST00000360870.5																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(16513-16515)ttfs		titin							113	109	110					2																	179610612		2203	4299	6502	SO:0001627	intron_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179610612delA	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.10361-3964T>-	2.37:g.179610612delA						TTN_ENST00000589042.1_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000591111.1_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000590773.1_RNA	p.F5505fs	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		46	16737	-			8982			Ig-like 36.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Frame_Shift_Del	DEL	ENST00000591111.1	37	c.16515delT																																																																																					0.378	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		9	72						9	72	---	---	---	---	-	179610612	A	-	179610612	6	5	286	0	1	1	0	1	0	0	0	0	16732	127	5	0		0	TTN	2	179610612	Intron	DEL	A	TCGA-J9-A52C-01A-11D-A26M-08	22299	179610612	63588761	113	13243											
ORC2L	4999	broad.mit.edu	37	chr2	201800586	201800586	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgagttggaagcagaatattCgctttcactgtcagaatgag	12	12	11	6	1	2	4	2	2	0	2	3	5	2	5	0	1	1	3	0	1	4	4			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr2:201800586C>T	ENST00000234296.2	-	9	793	c.544G>A	c.(544-546)Gaa>Aaa	p.E182K		NM_006190.4	NP_006181.1	Q13416	ORC2_HUMAN	origin recognition complex, subunit 2	182					DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	condensed chromosome inner kinetochore (GO:0000939)|heterochromatin (GO:0000792)|membrane (GO:0016020)|nuclear origin of replication recognition complex (GO:0005664)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|origin recognition complex (GO:0000808)|plasma membrane (GO:0005886)	DNA replication origin binding (GO:0003688)	p.E182*(1)		breast(1)|endometrium(1)|large_intestine(2)|lung(10)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	20						GCAGAATATTCGCTTTCACTG	0.428																																						ENST00000234296.2																			1	Substitution - Nonsense(1)	p.E182*(1)	lung(1)	breast(1)|endometrium(1)|large_intestine(2)|lung(10)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	20						c.(544-546)Gaa>Aaa		origin recognition complex, subunit 2							104	98	100					2																	201800586		2203	4300	6503	SO:0001583	missense	4999				cell cycle checkpoint|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|S phase of mitotic cell cycle	nuclear origin of replication recognition complex|nucleoplasm	DNA replication origin binding|protein binding	g.chr2:201800586C>T		CCDS2334.1	2q33	2010-10-12	2010-10-12	2010-10-12	ENSG00000115942	ENSG00000115942			8488	protein-coding gene	gene with protein product		601182	"origin recognition complex, subunit 2 (yeast homolog)-like", "origin recognition complex, subunit 2-like (yeast)", "origin recognition complex, subunit 2 homolog (yeast)"	ORC2L		8808289	Standard	NM_006190		Approved		uc002uwr.3	Q13416	OTTHUMG00000132783	ENST00000234296.2:c.544G>A	2.37:g.201800586C>T	ENSP00000234296:p.Glu182Lys						p.E182K	NM_006190.4	NP_006181.1	Q13416	ORC2_HUMAN			9	793	-			182					Q13204|Q53TX5	Missense_Mutation	SNP	ENST00000234296.2	37	c.544G>A	CCDS2334.1	.	.	.	.	.	.	.	.	.	.	C	34	5.359823	0.95854	.	.	ENSG00000115942	ENST00000234296	T	0.35789	1.29	5.24	5.24	0.73138	.	0.096086	0.64402	D	0.000001	T	0.52386	0.1731	L	0.59436	1.845	0.58432	D	0.999999	D;D	0.89917	1.0;0.997	P;P	0.60236	0.871;0.746	T	0.37220	-0.9715	10	0.21014	T	0.42	-12.59	18.7709	0.91892	0.0:1.0:0.0:0.0	.	182;182	B4DYU9;Q13416	.;ORC2_HUMAN	K	182	ENSP00000234296:E182K	ENSP00000234296:E182K	E	-	1	0	ORC2	201508831	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.197000	0.65141	2.620000	0.88729	0.555000	0.69702	GAA		0.428	ORC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256191.2	NM_006190		5	25	0	0	0	1	0	5	25					T	201800586	C	T	201800586	3	4	286	1	0	0	0	0	1	0	0	0	11262	893	31	2	1229	2	ORC2L	2	201800586	Missense_Mutation	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	22189974	201800586	41398787	114	13244											
SMARCAL1	50485	broad.mit.edu	37	chr2	217297570	217297570	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggtggtggtgccatcctcCgtgcgcttcacctgggagca	4	10	14	13	2	1	0	1	0	0	0	3	1	3	1	4	4	3	2	4	4	0	1	rs139469074		TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr2:217297570C>T	ENST00000357276.4	+	8	1794	c.1464C>T	c.(1462-1464)tcC>tcT	p.S488S	SMARCAL1_ENST00000358207.5_Silent_p.S488S	NM_014140.3	NP_054859.2	Q9NZC9	SMAL1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1	488	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				cellular response to DNA damage stimulus (GO:0006974)|chromatin modification (GO:0016568)|DNA metabolic process (GO:0006259)|DNA strand renaturation (GO:0000733)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|replication fork processing (GO:0031297)	nucleus (GO:0005634)|site of double-strand break (GO:0035861)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(10)|liver(1)|lung(15)|ovary(3)|prostate(1)|skin(1)	42		Renal(323;0.0458)		Epithelial(149;9.48e-06)|all cancers(144;0.000621)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0111)		TGCCATCCTCCGTGCGCTTCA	0.517									Schimke Immuno-Osseous Dysplasia																													ENST00000357276.4																			0				NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(10)|liver(1)|lung(15)|ovary(3)|prostate(1)|skin(1)	42						c.(1462-1464)tcC>tcT		SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1		C	,	0,4406		0,0,2203	76	76	76		1464,1464	-11	0.1	2	dbSNP_134	76	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	SMARCAL1	NM_001127207.1,NM_014140.3	,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,	488/955,488/955	217297570	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	50485	Schimke Immuno-Osseous Dysplasia	Familial Cancer Database	SIOD	chromatin modification|DNA metabolic process|regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity	g.chr2:217297570C>T	AF210833	CCDS2403.1	2q35	2014-09-17			ENSG00000138375	ENSG00000138375			11102	protein-coding gene	gene with protein product	"HepA-related protein", "ATP-driven annealing helicase"	606622				10713074, 10857751, 18974355	Standard	NM_014140		Approved	HHARP, HARP	uc002vgd.4	Q9NZC9	OTTHUMG00000133055	ENST00000357276.4:c.1464C>T	2.37:g.217297570C>T						SMARCAL1_ENST00000358207.5_Silent_p.S488S	p.S488S	NM_014140.3	NP_054859.2	Q9NZC9	SMAL1_HUMAN		Epithelial(149;9.48e-06)|all cancers(144;0.000621)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0111)	8	1794	+		Renal(323;0.0458)	488			Helicase ATP-binding.		A6NEH0|Q53R00|Q96AY1|Q9NXQ5|Q9UFH3|Q9UI93	Silent	SNP	ENST00000357276.4	37	c.1464C>T	CCDS2403.1	.	.	.	.	.	.	.	.	.	.	C	7.329	0.618520	0.14129	0.0	1.16E-4	ENSG00000138375	ENST00000445153	.	.	.	5.5	-11.0	0.00169	.	.	.	.	.	T	0.49287	0.1548	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.62627	-0.6814	4	.	.	.	-19.689	11.317	0.49399	0.0811:0.585:0.0823:0.2516	.	.	.	.	L	46	.	.	P	+	2	0	SMARCAL1	217005815	0.000000	0.05858	0.103000	0.21229	0.755000	0.42902	-2.370000	0.01075	-2.092000	0.00857	-1.105000	0.02106	CCG		0.517	SMARCAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256671.2			18	70	0	0	0	1	0	18	70					T	217297570	C	T	217297570	2	4	286	1	0	0	0	0	0	0	0	1	14773	639	23	2		2	SMARCAL1	2	217297570	Silent	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	15496984	217297570	25901803	115	13245											
EPHA4	2043	broad.mit.edu	37	chr2	222347370	222347370	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tccaagttcacagatgtctcGttgacatttgaaatcaagtt	12	14	7	8	1	3	3	2	2	1	1	5	3	4	3	1	0	0	3	1	0	3	4	rs147516232		TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr2:222347370G>A	ENST00000281821.2	-	5	1061	c.1020C>T	c.(1018-1020)aaC>aaT	p.N340N	EPHA4_ENST00000409854.1_Silent_p.N340N|EPHA4_ENST00000392071.4_Silent_p.N289N|EPHA4_ENST00000409938.1_Silent_p.N340N	NM_004438.3	NP_004429.1	P54764	EPHA4_HUMAN	EPH receptor A4	340	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult walking behavior (GO:0007628)|cell adhesion (GO:0007155)|corticospinal tract morphogenesis (GO:0021957)|fasciculation of motor neuron axon (GO:0097156)|fasciculation of sensory neuron axon (GO:0097155)|glial cell migration (GO:0008347)|motor neuron axon guidance (GO:0008045)|negative regulation of axon regeneration (GO:0048681)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of Rho guanyl-nucleotide exchange factor activity (GO:2001108)|protein autophosphorylation (GO:0046777)|regulation of astrocyte differentiation (GO:0048710)|regulation of axonogenesis (GO:0050770)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of Rac GTPase activity (GO:0032314)|regulation of Rap GTPase activity (GO:0032317)	axon (GO:0030424)|axon terminus (GO:0043679)|axonal growth cone (GO:0044295)|cell junction (GO:0030054)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|mitochondrial outer membrane (GO:0005741)|neuromuscular junction (GO:0031594)|perikaryon (GO:0043204)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	ATP binding (GO:0005524)|DH domain binding (GO:0097161)|GPI-linked ephrin receptor activity (GO:0005004)|PH domain binding (GO:0042731)|protein kinase activity (GO:0004672)|transmembrane-ephrin receptor activity (GO:0005005)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Renal(207;0.0183)		Epithelial(121;5.38e-09)|all cancers(144;2.47e-06)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(261;0.0154)		CAGATGTCTCGTTGACATTTG	0.463													g|||	1	0.000199681	8e-04	0	5008	,	,		18944	0		0	False		,,,				2504	0					ENST00000281821.2																			0				NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49						c.(1018-1020)aaC>aaT		EPH receptor A4		A		12,4394	17.9+/-39.9	0,12,2191	101	112	109		1020	-8	0.4	2	dbSNP_134	109	0,8600		0,0,4300	no	coding-synonymous	EPHA4	NM_004438.3		0,12,6491	AA,AG,GG		0.0,0.2724,0.0923		340/987	222347370	12,12994	2203	4300	6503	SO:0001819	synonymous_variant	2043					integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr2:222347370G>A	L36645	CCDS2447.1	2q36.3	2013-02-11	2004-10-28		ENSG00000116106	ENSG00000116106	2.7.10.1	"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3388	protein-coding gene	gene with protein product		602188	"EphA4"	TYRO1		9267020	Standard	NM_004438		Approved	Hek8	uc002vmq.3	P54764	OTTHUMG00000133142	ENST00000281821.2:c.1020C>T	2.37:g.222347370G>A						EPHA4_ENST00000392071.4_Silent_p.N289N|EPHA4_ENST00000409854.1_Silent_p.N340N|EPHA4_ENST00000409938.1_Silent_p.N340N	p.N340N	NM_004438.3	NP_004429.1	P54764	EPHA4_HUMAN		Epithelial(121;5.38e-09)|all cancers(144;2.47e-06)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(261;0.0154)	5	1061	-		Renal(207;0.0183)	340			Fibronectin type-III 1.		A8K2P1|B2R601|B7Z6Q8|Q2M380	Silent	SNP	ENST00000281821.2	37	c.1020C>T	CCDS2447.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	g	8.265	0.812079	0.16537	0.002724	0.0	ENSG00000116106	ENST00000441679	.	.	.	5.91	-7.98	0.01135	.	.	.	.	.	T	0.65554	0.2702	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.71115	-0.4686	4	.	.	.	.	18.6739	0.91521	0.6721:0.0:0.3279:0.0	.	.	.	.	M	77	.	.	T	-	2	0	EPHA4	222055614	0.006000	0.16342	0.440000	0.26846	0.976000	0.68499	-0.915000	0.04033	-1.685000	0.01441	-0.735000	0.03563	ACG		0.463	EPHA4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256836.3			8	66	0	0	0	1	0	8	66					A	222347370	G	A	222347370	2	1	286	1	0	0	0	0	0	0	0	1	5169	1136	40	1		1	EPHA4	2	222347370	Silent	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	5049800	222347370	20852003	116	13246											
ARMC9	80210	broad.mit.edu	37	chr2	232196543	232196543	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagccgatctggacaaagaCgaactgatccagccccagct	13	5	10	13	2	1	2	0	1	1	1	2	6	2	3	4	1	4	1	4	1	3	0	rs199727070	byFrequency	TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr2:232196543C>T	ENST00000349938.4	+	20	2006	c.1812C>T	c.(1810-1812)gaC>gaT	p.D604D	ARMC9_ENST00000483477.1_3'UTR	NM_001271466.1|NM_025139.4	NP_001258395.1|NP_079415	Q7Z3E5	ARMC9_HUMAN	armadillo repeat containing 9	604						extracellular vesicular exosome (GO:0070062)				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22		Renal(207;0.0112)|all_lung(227;0.0744)|all_hematologic(139;0.0749)|Acute lymphoblastic leukemia(138;0.167)|Medulloblastoma(418;0.184)|Lung NSC(271;0.205)		Epithelial(121;1.43e-10)|LUSC - Lung squamous cell carcinoma(224;0.017)|Lung(119;0.0189)		TGGACAAAGACGAACTGATCC	0.562													C|||	2	0.000399361	8e-04	0	5008	,	,		20332	0		0.001	False		,,,				2504	0					ENST00000349938.4																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						c.(1810-1812)gaC>gaT		armadillo repeat containing 9							72	71	71					2																	232196543		2203	4300	6503	SO:0001819	synonymous_variant	80210						binding	g.chr2:232196543C>T	BC004514	CCDS2484.1, CCDS74666.1	2q37.1	2013-02-14			ENSG00000135931	ENSG00000135931		"Armadillo repeat containing"	20730	protein-coding gene	gene with protein product						11347906	Standard	NM_025139		Approved	FLJ12584, KIAA1868, ARM, KU-MEL-1	uc031rrs.1	Q7Z3E5	OTTHUMG00000133229	ENST00000349938.4:c.1812C>T	2.37:g.232196543C>T						ARMC9_ENST00000483477.1_3'UTR	p.D604D	NM_001271466.1|NM_025139.3	NP_001258395.1|NP_079415.3	Q7Z3E5	ARMC9_HUMAN		Epithelial(121;1.43e-10)|LUSC - Lung squamous cell carcinoma(224;0.017)|Lung(119;0.0189)	20	2006	+		Renal(207;0.0112)|all_lung(227;0.0744)|all_hematologic(139;0.0749)|Acute lymphoblastic leukemia(138;0.167)|Medulloblastoma(418;0.184)|Lung NSC(271;0.205)	604					Q53TI3|Q6P162|Q7L594|Q86WG2|Q96JF9|Q9H9R8	Silent	SNP	ENST00000349938.4	37	c.1812C>T	CCDS2484.1																																																																																				0.562	ARMC9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256966.3	NM_025139		4	24	0	0	0	1	0	4	24					T	232196543	C	T	232196543	2	4	286	1	0	0	0	0	0	0	0	1	958	535	19	1		1	ARMC9	2	232196543	Silent	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	9849173	232196543	11002830	117	13247											
B3GNT7	93010	broad.mit.edu	37	chr2	232262921	232262921	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggccgcgagcggcagtccgCgggtgggggccgaggcgccg	3	2	23	13	8	0	0	0	0	0	0	1	2	1	0	4	6	1	1	4	6	0	0			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr2:232262921C>T	ENST00000287590.5	+	2	752	c.491C>T	c.(490-492)gCg>gTg	p.A164V	B3GNT7_ENST00000479618.1_3'UTR	NM_145236.2	NP_660279.1	Q8NFL0	B3GN7_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 7	164					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	galactosyltransferase activity (GO:0008378)			endometrium(2)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(1)	17		Renal(207;0.025)|all_hematologic(139;0.094)|Acute lymphoblastic leukemia(138;0.164)|Medulloblastoma(418;0.232)		Epithelial(121;3.22e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0139)		CGGCAGTCCGCGGGTGGGGGC	0.701																																						ENST00000287590.5																			0				endometrium(2)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(1)	17						c.(490-492)gCg>gTg		UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 7							12	14	13					2																	232262921		1857	4057	5914	SO:0001583	missense	93010				protein glycosylation	Golgi membrane|integral to membrane	galactosyltransferase activity	g.chr2:232262921C>T	AK000770	CCDS46540.1	2q36.1	2013-02-21			ENSG00000156966	ENSG00000156966		"Beta 3-glycosyltransferases"	18811	protein-coding gene	gene with protein product		615313				12061784	Standard	NM_145236		Approved	beta3GnT7	uc002vrs.3	Q8NFL0	OTTHUMG00000153880	ENST00000287590.5:c.491C>T	2.37:g.232262921C>T	ENSP00000287590:p.Ala164Val					B3GNT7_ENST00000479618.1_3'UTR	p.A164V	NM_145236.2	NP_660279.1	Q8NFL0	B3GN7_HUMAN		Epithelial(121;3.22e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0139)	2	752	+		Renal(207;0.025)|all_hematologic(139;0.094)|Acute lymphoblastic leukemia(138;0.164)|Medulloblastoma(418;0.232)	164					B3KWY4|B7WNP0	Missense_Mutation	SNP	ENST00000287590.5	37	c.491C>T	CCDS46540.1	.	.	.	.	.	.	.	.	.	.	C	3.489	-0.104267	0.06967	.	.	ENSG00000156966	ENST00000287590	T	0.43294	0.95	5.2	-0.282	0.12878	.	0.422483	0.24962	N	0.034208	T	0.21468	0.0517	L	0.28400	0.85	0.09310	N	1	B	0.12630	0.006	B	0.09377	0.004	T	0.07443	-1.0772	10	0.30078	T	0.28	.	1.0333	0.01543	0.3047:0.3509:0.105:0.2394	.	164	Q8NFL0	B3GN7_HUMAN	V	164	ENSP00000287590:A164V	ENSP00000287590:A164V	A	+	2	0	B3GNT7	231971165	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.072000	0.11486	-0.065000	0.13021	0.655000	0.94253	GCG		0.701	B3GNT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332827.1	NM_145236		4	17	0	0	0	1	0	4	17					T	232262921	C	T	232262921	3	4	286	1	0	0	0	0	1	0	0	0	1262	768	27	1	497	1	B3GNT7	2	232262921	Missense_Mutation	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	66378	232262921	10936452	118	13248											
GIGYF2	26058	broad.mit.edu	37	chr2	233710483	233710483	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccggcagaataagaaagtagAagaagaagaaaagttgctga	20	5	12	4	1	0	7	0	1	0	6	0	7	0	7	1	1	1	4	1	1	9	3	rs200196994		TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr2:233710483A>T	ENST00000409547.1	+	28	3658	c.3347A>T	c.(3346-3348)gAa>gTa	p.E1116V	GIGYF2_ENST00000373566.3_Missense_Mutation_p.E1138V|GIGYF2_ENST00000409480.1_Missense_Mutation_p.E1138V|GIGYF2_ENST00000409196.3_Missense_Mutation_p.E1110V|GIGYF2_ENST00000373563.4_Missense_Mutation_p.E1116V|GIGYF2_ENST00000409451.3_Missense_Mutation_p.E1137V	NM_015575.3	NP_056390.2	Q6Y7W6	PERQ2_HUMAN	GRB10 interacting GYF protein 2	1116					adult locomotory behavior (GO:0008344)|cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|feeding behavior (GO:0007631)|homeostasis of number of cells within a tissue (GO:0048873)|insulin-like growth factor receptor signaling pathway (GO:0048009)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|musculoskeletal movement (GO:0050881)|negative regulation of translation (GO:0017148)|neuromuscular process controlling balance (GO:0050885)|post-embryonic development (GO:0009791)|spinal cord motor neuron differentiation (GO:0021522)	membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)	p.E1116V(2)|p.E1137V(2)		NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(17)|lung(11)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	63		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145)		AAGAAAGTAGAAGAAGAAGAA	0.378																																						ENST00000373566.3																			4	Substitution - Missense(4)	p.E1116V(2)|p.E1137V(2)	endometrium(4)	NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(17)|lung(11)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	63						c.(3412-3414)gAa>gTa		GRB10 interacting GYF protein 2		A	VAL/GLU,VAL/GLU,VAL/GLU,VAL/GLU	1,4405	2.1+/-5.4	0,1,2202	104	107	106		3347,3410,3329,3347	5.7	1	2		106	0,8600		0,0,4300	yes	missense,missense,missense,missense	GIGYF2	NM_001103146.1,NM_001103147.1,NM_001103148.1,NM_015575.3	121,121,121,121	0,1,6502	TT,TA,AA		0.0,0.0227,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging	1116/1300,1137/1321,1110/1294,1116/1300	233710483	1,13005	2203	4300	6503	SO:0001583	missense	26058				cell death		protein binding	g.chr2:233710483A>T	U80751	CCDS33401.1, CCDS46542.1, CCDS46543.1	2q37.1	2011-07-06	2008-02-11	2008-02-11	ENSG00000204120	ENSG00000204120		"Trinucleotide (CAG) repeat containing"	11960	protein-coding gene	gene with protein product	"GYF domain containing 2"	612003	"PERQ amino acid rich, with GYF domain 2", "PERQ amino acid rich, with GYF domain 3", "trinucleotide repeat containing 15", "Parkinson disease (autosomal recessive, early onset) 11"	PERQ2, PERQ3, TNRC15, PARK11		9225980, 9734811, 12771153, 18358451, 19279319	Standard	NM_015575		Approved	KIAA0642, GYF2	uc002vtk.4	Q6Y7W6	OTTHUMG00000153237	ENST00000409547.1:c.3347A>T	2.37:g.233710483A>T	ENSP00000386537:p.Glu1116Val					GIGYF2_ENST00000409547.1_Missense_Mutation_p.E1116V|GIGYF2_ENST00000409451.3_Missense_Mutation_p.E1137V|GIGYF2_ENST00000409196.3_Missense_Mutation_p.E1110V|GIGYF2_ENST00000373563.4_Missense_Mutation_p.E1116V|GIGYF2_ENST00000409480.1_Missense_Mutation_p.E1138V	p.E1138V			Q6Y7W6	PERQ2_HUMAN		Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145)	27	3610	+		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)	1116					A6H8W4|B9EG55|E9PBB0|O75137|Q7Z2Z8|Q7Z3I2|Q96HU4|Q9NV82	Missense_Mutation	SNP	ENST00000409547.1	37	c.3413A>T	CCDS33401.1	.	.	.	.	.	.	.	.	.	.	A	24.1	4.494403	0.85069	2.27E-4	0.0	ENSG00000204120	ENST00000373566;ENST00000373563;ENST00000409480;ENST00000409547;ENST00000409196;ENST00000409451;ENST00000426102	T;T;T;T;T;T	0.74421	-0.84;-0.84;-0.84;-0.84;-0.84;-0.84	5.7	5.7	0.88788	.	0.086721	0.85682	N	0.000000	D	0.84575	0.5502	M	0.74258	2.255	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.999	P;P;P	0.62491	0.903;0.903;0.903	D	0.86504	0.1805	10	0.72032	D	0.01	-11.0167	15.9733	0.80036	1.0:0.0:0.0:0.0	.	1137;1116;1110	A6H8W4;Q6Y7W6;E9PBB0	.;PERQ2_HUMAN;.	V	1138;1116;1138;1116;1110;1137;145	ENSP00000362667:E1138V;ENSP00000362664:E1116V;ENSP00000386765:E1138V;ENSP00000386537:E1116V;ENSP00000387070:E1110V;ENSP00000387170:E1137V	ENSP00000362664:E1116V	E	+	2	0	GIGYF2	233418727	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.339000	0.96797	2.164000	0.68074	0.533000	0.62120	GAA		0.378	GIGYF2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000330316.2	NM_001103146		4	46	0	0	0	1	0	4	46					T	233710483	A	T	233710483	3	4	286	1	0	0	0	0	1	0	0	0	6378	246	9	5	3511	5	GIGYF2	2	233710483	Missense_Mutation	SNP	A	TCGA-J9-A52C-01A-11D-A26M-08	1447562	233710483	9488890	119	13249											
NGEF	25791	broad.mit.edu	37	chr2	233757708	233757708	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acggtacacaatgtcacacaCgtcagagatgacgatgttct	13	9	9	10	3	3	2	2	1	1	1	3	4	3	2	0	1	1	2	0	1	2	2	rs146544382		TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr2:233757708C>T	ENST00000264051.3	-	7	1320	c.1042G>A	c.(1042-1044)Gtg>Atg	p.V348M	NGEF_ENST00000373552.4_Missense_Mutation_p.V256M|NGEF_ENST00000539537.1_Missense_Mutation_p.V71M	NM_019850.2	NP_062824.2	Q8N5V2	NGEF_HUMAN	neuronal guanine nucleotide exchange factor	348	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				apoptotic signaling pathway (GO:0097190)|ephrin receptor signaling pathway (GO:0048013)|negative regulation of dendritic spine morphogenesis (GO:0061002)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of GTPase activity (GO:0043087)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell projection (GO:0042995)|cytosol (GO:0005829)|membrane (GO:0016020)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			central_nervous_system(4)|endometrium(8)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|pancreas(1)|skin(4)	35		Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.00793)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;8.65e-17)|BRCA - Breast invasive adenocarcinoma(100;0.00037)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(119;0.00984)|GBM - Glioblastoma multiforme(43;0.0604)		ATGTCACACACGTCAGAGATG	0.587													C|||	1	0.000199681	0	0	5008	,	,		21054	0		0.001	False		,,,				2504	0					ENST00000264051.3																			0				central_nervous_system(4)|endometrium(8)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|pancreas(1)|skin(4)	35						c.(1042-1044)Gtg>Atg		neuronal guanine nucleotide exchange factor		C	MET/VAL,MET/VAL	1,4405	2.1+/-5.4	0,1,2202	184	146	159		766,1042	5.1	1	2	dbSNP_134	159	15,8585	12.6+/-44.7	0,15,4285	yes	missense,missense	NGEF	NM_001114090.1,NM_019850.2	21,21	0,16,6487	TT,TC,CC		0.1744,0.0227,0.123	probably-damaging,probably-damaging	256/619,348/711	233757708	16,12990	2203	4300	6503	SO:0001583	missense	25791				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|growth cone|plasma membrane	Rho guanyl-nucleotide exchange factor activity	g.chr2:233757708C>T	AJ238899	CCDS2500.1, CCDS46544.1	2q37	2012-07-24			ENSG00000066248	ENSG00000066248		"Rho guanine nucleotide exchange factors"	7807	protein-coding gene	gene with protein product	"ephexin"	605991				10777665	Standard	NM_019850		Approved	ARHGEF27	uc002vts.2	Q8N5V2	OTTHUMG00000133272	ENST00000264051.3:c.1042G>A	2.37:g.233757708C>T	ENSP00000264051:p.Val348Met					NGEF_ENST00000539537.1_Missense_Mutation_p.V71M|NGEF_ENST00000373552.4_Missense_Mutation_p.V256M	p.V348M	NM_019850.2	NP_062824.2	Q8N5V2	NGEF_HUMAN		Epithelial(121;8.65e-17)|BRCA - Breast invasive adenocarcinoma(100;0.00037)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(119;0.00984)|GBM - Glioblastoma multiforme(43;0.0604)	7	1320	-		Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.00793)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)	348			DH.		B4DMB8|B9A045|E9PC42|Q53QQ4|Q53ST7|Q6GMQ5|Q9NQD6	Missense_Mutation	SNP	ENST00000264051.3	37	c.1042G>A	CCDS2500.1	1|1	4.578754578754579E-4|4.578754578754579E-4	0|0	0.0|0.0	0|0	0.0|0.0	0|0	0.0|0.0	1|1	0.0013192612137203166|0.0013192612137203166	C|C	17.82|17.82	3.482681|3.482681	0.63962|0.63962	2.27E-4|2.27E-4	0.001744|0.001744	ENSG00000066248|ENSG00000066248	ENST00000420650|ENST00000264051;ENST00000373552;ENST00000541023;ENST00000539537;ENST00000416114;ENST00000458735	.|T;T;T;T;T	.|0.66995	.|-0.24;-0.24;-0.24;-0.24;-0.24	5.14|5.14	5.14|5.14	0.70334|0.70334	.|Dbl homology (DH) domain (5);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.81809|0.81809	0.4901|0.4901	M|M	0.69823|0.69823	2.125|2.125	0.58432|0.58432	D|D	0.999998|0.999998	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.85130	.|0.997;0.989	D|D	0.84014|0.84014	0.0350|0.0350	5|10	.|0.87932	.|D	.|0	-35.802|-35.802	18.6071|18.6071	0.91271|0.91271	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|256;348	.|E9PC42;Q8N5V2	.|.;NGEF_HUMAN	H|M	140|348;256;238;71;71;71	.|ENSP00000264051:V348M;ENSP00000362653:V256M;ENSP00000439035:V71M;ENSP00000401063:V71M;ENSP00000412614:V71M	.|ENSP00000264051:V348M	R|V	-|-	2|1	0|0	NGEF|NGEF	233465952|233465952	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.355000|0.355000	0.29361|0.29361	3.714000|3.714000	0.54889|0.54889	2.396000|2.396000	0.81511|0.81511	0.655000|0.655000	0.94253|0.94253	CGT|GTG		0.587	NGEF-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000257051.2	XM_044799		15	83	0	0	0	1	0	15	83					T	233757708	C	T	233757708	3	4	286	1	0	0	0	0	1	0	0	0	10394	536	19	1	1126	1	NGEF	2	233757708	Missense_Mutation	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	47225	233757708	9441665	120	13250											
MSL3L2	151507	broad.mit.edu	37	chr2	234775651	234775651	+	RNA	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggcatagcgtgatggtgaCgaggcctctcattggctgaa	8	10	15	8	2	1	3	1	3	1	0	2	4	1	3	1	4	1	2	1	4	2	2	rs551898491		TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr2:234775651C>T	ENST00000438684.1	-	0	463					NR_024322.1		P0C860	MS3L2_HUMAN	male-specific lethal 3 homolog (Drosophila) pseudogene 1						chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)											GTGATGGTGACGAGGCCTCTC	0.438													C|||	1	0.000199681	0	0	5008	,	,		20856	0		0	False		,,,				2504	0.001					ENST00000438684.1																			0																				302	231	253					2																	234775651		692	1591	2283			0							g.chr2:234775651C>T	BI831020		2q37.1	2011-03-21	2011-03-21	2011-03-21	ENSG00000224287	ENSG00000224287			17837	pseudogene	pseudogene			"male-specific lethal 3-like 2 (Drosophila)"	MSL3L2			Standard	NR_024322		Approved		uc010znf.2	P0C860	OTTHUMG00000059126		2.37:g.234775651C>T								NR_024322.1						0	463	-									RNA	SNP	ENST00000438684.1	37																																																																																						0.438	MSL3P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000131002.2	NR_024322		7	35	0	0	0	1	0	7	35					T	234775651	C	T	234775651	1	4	286	0	1	0	0	0	0	0	0	0	9880	536	19	1		1	MSL3L2	2	234775651	RNA	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	1017943	234775651	8423722	121	13251											
TRPM8	79054	broad.mit.edu	37	chr2	234846109	234846109	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaaggaatttcctaccgacGcctttggggatattcagttt	9	13	9	10	2	1	0	1	0	0	0	2	3	2	2	4	3	1	1	4	3	4	6	rs200565245		TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr2:234846109G>A	ENST00000324695.4	+	4	344	c.304G>A	c.(304-306)Gcc>Acc	p.A102T	TRPM8_ENST00000355722.4_Missense_Mutation_p.A52T|TRPM8_ENST00000409625.1_Missense_Mutation_p.A25T|TRPM8_ENST00000433712.2_5'UTR	NM_024080.4	NP_076985.4	Q7Z2W7	TRPM8_HUMAN	transient receptor potential cation channel, subfamily M, member 8	102					calcium ion transmembrane transport (GO:0070588)|cellular calcium ion homeostasis (GO:0006874)|detection of temperature stimulus (GO:0016048)|ion transmembrane transport (GO:0034220)|protein homotetramerization (GO:0051289)|protein homotrimerization (GO:0070207)|response to cold (GO:0009409)|thermoception (GO:0050955)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)			breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(2)|lung(27)|prostate(2)|skin(7)|stomach(2)	66		Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224)		Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108)	Menthol(DB00825)	TCCTACCGACGCCTTTGGGGA	0.478																																						ENST00000324695.4																			0				breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(2)|lung(27)|prostate(2)|skin(7)|stomach(2)	66						c.(304-306)Gcc>Acc		transient receptor potential cation channel, subfamily M, member 8	Menthol(DB00825)						149	150	150					2																	234846109		2203	4300	6503	SO:0001583	missense	79054					integral to membrane		g.chr2:234846109G>A	AC005538	CCDS33407.1	2q37	2011-12-14			ENSG00000144481	ENSG00000144481		"Voltage-gated ion channels / Transient receptor potential cation channels"	17961	protein-coding gene	gene with protein product		606678				16382100	Standard	NM_024080		Approved		uc002vvh.3	Q7Z2W7	OTTHUMG00000059129	ENST00000324695.4:c.304G>A	2.37:g.234846109G>A	ENSP00000323926:p.Ala102Thr					TRPM8_ENST00000409625.1_Missense_Mutation_p.A25T|TRPM8_ENST00000433712.2_5'UTR|TRPM8_ENST00000355722.4_Missense_Mutation_p.A52T	p.A102T	NM_024080.4	NP_076985.4	Q7Z2W7	TRPM8_HUMAN		Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108)	4	344	+		Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224)	102					A0AVG2|Q3YFM7|Q6QNH9|Q8TAC3|Q8TDX8|Q9BVK1	Missense_Mutation	SNP	ENST00000324695.4	37	c.304G>A	CCDS33407.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.311473	0.81358	.	.	ENSG00000144481	ENST00000324695;ENST00000355722;ENST00000409625	T;T;T	0.64618	-0.11;-0.11;-0.11	5.68	5.68	0.88126	.	0.000000	0.64402	D	0.000001	T	0.78155	0.4239	M	0.67700	2.07	0.80722	D	1	D;D	0.89917	0.994;1.0	D;D	0.83275	0.922;0.996	T	0.75903	-0.3153	10	0.39692	T	0.17	-32.0687	18.3402	0.90303	0.0:0.0:1.0:0.0	.	52;102	Q7Z2W7-2;Q7Z2W7	.;TRPM8_HUMAN	T	102;52;25	ENSP00000323926:A102T;ENSP00000347956:A52T;ENSP00000386771:A25T	ENSP00000323926:A102T	A	+	1	0	TRPM8	234510848	1.000000	0.71417	0.963000	0.40424	0.578000	0.36192	8.519000	0.90563	2.676000	0.91093	0.591000	0.81541	GCC		0.478	TRPM8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131005.4	NM_024080		8	111	0	0	0	1	0	8	111					A	234846109	G	A	234846109	3	1	286	1	0	0	0	0	1	0	0	0	16589	1087	38	1	314	1	TRPM8	2	234846109	Missense_Mutation	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	70458	234846109	8353264	122	13252											
SH3BP4	23677	broad.mit.edu	37	chr2	235951365	235951365	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtacccgactttccaggaccGcccggtgtccagcctcaagt	7	8	10	16	3	1	0	1	0	0	0	3	2	3	1	6	2	2	1	6	2	2	2			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr2:235951365G>A	ENST00000409212.1	+	4	2459	c.1952G>A	c.(1951-1953)cGc>cAc	p.R651H	SH3BP4_ENST00000392011.2_Missense_Mutation_p.R651H|SH3BP4_ENST00000344528.4_Missense_Mutation_p.R651H			Q9P0V3	SH3B4_HUMAN	SH3-domain binding protein 4	651					cellular response to amino acid stimulus (GO:0071230)|endocytosis (GO:0006897)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of GTPase activity (GO:0034260)|negative regulation of TOR signaling (GO:0032007)|positive regulation of autophagy (GO:0010508)|protein localization to lysosome (GO:0061462)|regulation of catalytic activity (GO:0050790)	coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	GDP-dissociation inhibitor activity (GO:0005092)|identical protein binding (GO:0042802)|Ras GTPase binding (GO:0017016)			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(6)|stomach(3)|urinary_tract(2)	44		Breast(86;0.000332)|Renal(207;0.00339)|all_lung(227;0.00458)|all_hematologic(139;0.0296)|Lung NSC(271;0.0419)		Epithelial(121;7.66e-20)|BRCA - Breast invasive adenocarcinoma(100;0.000402)|Lung(119;0.00299)|LUSC - Lung squamous cell carcinoma(224;0.00645)|GBM - Glioblastoma multiforme(43;0.237)		TTCCAGGACCGCCCGGTGTCC	0.547																																						ENST00000409212.1																			0				central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(6)|stomach(3)|urinary_tract(2)	44						c.(1951-1953)cGc>cAc		SH3-domain binding protein 4							68	73	71					2																	235951365		2203	4300	6503	SO:0001583	missense	23677				endocytosis	clathrin-coated vesicle|coated pit|nucleus	protein binding	g.chr2:235951365G>A	AF147747	CCDS2513.1	2q37.1-q37.2	2008-05-15			ENSG00000130147	ENSG00000130147			10826	protein-coding gene	gene with protein product		605611				10644451	Standard	NM_014521		Approved		uc002vvp.3	Q9P0V3	OTTHUMG00000133292	ENST00000409212.1:c.1952G>A	2.37:g.235951365G>A	ENSP00000386862:p.Arg651His					SH3BP4_ENST00000392011.2_Missense_Mutation_p.R651H|SH3BP4_ENST00000344528.4_Missense_Mutation_p.R651H	p.R651H			Q9P0V3	SH3B4_HUMAN		Epithelial(121;7.66e-20)|BRCA - Breast invasive adenocarcinoma(100;0.000402)|Lung(119;0.00299)|LUSC - Lung squamous cell carcinoma(224;0.00645)|GBM - Glioblastoma multiforme(43;0.237)	4	2459	+		Breast(86;0.000332)|Renal(207;0.00339)|all_lung(227;0.00458)|all_hematologic(139;0.0296)|Lung NSC(271;0.0419)	651					O95082|Q309A3|Q53QD0|Q53TD1	Missense_Mutation	SNP	ENST00000409212.1	37	c.1952G>A	CCDS2513.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.099655	0.76983	.	.	ENSG00000130147	ENST00000392011;ENST00000409212;ENST00000344528	T;T;T	0.13657	2.57;2.57;2.57	5.15	5.15	0.70609	.	0.054086	0.85682	D	0.000000	T	0.26011	0.0634	L	0.36672	1.1	0.80722	D	1	D;D	0.69078	0.997;0.997	P;P	0.60173	0.87;0.87	T	0.01030	-1.1475	10	0.87932	D	0	-39.1322	17.1821	0.86858	0.0:0.0:1.0:0.0	.	651;651	A8K594;Q9P0V3	.;SH3B4_HUMAN	H	651	ENSP00000375867:R651H;ENSP00000386862:R651H;ENSP00000340237:R651H	ENSP00000340237:R651H	R	+	2	0	SH3BP4	235616104	1.000000	0.71417	0.998000	0.56505	0.959000	0.62525	7.615000	0.83006	2.397000	0.81536	0.655000	0.94253	CGC		0.547	SH3BP4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329763.1			11	70	0	0	0	1	0	11	70					A	235951365	G	A	235951365	3	1	286	1	0	0	0	0	1	0	0	0	14246	1087	38	1	1958	1	SH3BP4	2	235951365	Missense_Mutation	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	1105256	235951365	7248008	123	13253											
CXCR7	57007	broad.mit.edu	37	chr2	237489181	237489181	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gctggccatgcaacagcagcGactgcatcgtggtggacacg	9	6	14	12	3	0	0	0	0	0	0	1	2	0	1	1	3	5	4	1	3	1	0			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr2:237489181G>A	ENST00000272928.3	+	2	383	c.73G>A	c.(73-75)Gac>Aac	p.D25N		NM_020311.2	NP_064707.1	P25106	ACKR3_HUMAN	atypical chemokine receptor 3	25					angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902230)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|receptor internalization (GO:0031623)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cell surface (GO:0009986)|coated pit (GO:0005905)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	C-X-C chemokine binding (GO:0019958)|C-X-C chemokine receptor activity (GO:0016494)|coreceptor activity (GO:0015026)|scavenger receptor activity (GO:0005044)										CAACAGCAGCGACTGCATCGT	0.522																																						ENST00000272928.3																			0											c.(73-75)Gac>Aac		atypical chemokine receptor 3							181	116	138					2																	237489181		2203	4300	6503	SO:0001583	missense	57007							g.chr2:237489181G>A	BC008459	CCDS2516.1	2q37.3	2013-07-17	2013-07-16	2013-07-16	ENSG00000144476	ENSG00000144476		"CD molecules", "GPCR / Class A : Chemokine receptors : Atypical"	23692	protein-coding gene	gene with protein product		610376	"chemokine orphan receptor 1", "chemokine (C-X-C motif) receptor 7"	CMKOR1, CXCR7		16107333, 16148	Standard	NM_020311		Approved	RDC1, GPR159	uc002vwd.3	P25106	OTTHUMG00000133295	ENST00000272928.3:c.73G>A	2.37:g.237489181G>A	ENSP00000272928:p.Asp25Asn						p.D25N	NM_020311.2	NP_064707.1					2	383	+								A8K6J4|Q53RV4|Q8NE10|Q92938|Q92986	Missense_Mutation	SNP	ENST00000272928.3	37	c.73G>A	CCDS2516.1	.	.	.	.	.	.	.	.	.	.	G	14.25	2.478358	0.44044	.	.	ENSG00000144476	ENST00000447924;ENST00000272928	T;T	0.38240	1.15;1.15	5.7	4.83	0.62350	.	0.057267	0.64402	D	0.000002	T	0.26702	0.0653	L	0.29908	0.895	0.37186	D	0.90372	B	0.10296	0.003	B	0.06405	0.002	T	0.13150	-1.0520	10	0.42905	T	0.14	.	10.7723	0.46330	0.1441:0.0:0.8559:0.0	.	25	P25106	CXCR7_HUMAN	N	25	ENSP00000405945:D25N;ENSP00000272928:D25N	ENSP00000272928:D25N	D	+	1	0	CXCR7	237153920	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	4.955000	0.63638	1.418000	0.47098	0.655000	0.94253	GAC		0.522	ACKR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257079.2	NM_020311		8	32	0	0	0	1	0	8	32					A	237489181	G	A	237489181	3	1	286	1	0	0	0	0	1	0	0	0	4096	1058	37	2	75	2	CXCR7	2	237489181	Missense_Mutation	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	1537816	237489181	5710192	124	13254											
RAB17	64284	broad.mit.edu	37	chr2	238494711	238494711	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gccaagctggacttacccacGgagccacttcccaggagaac	11	5	10	15	1	0	1	0	0	0	1	1	4	1	3	4	3	4	1	4	3	3	2			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr2:238494711G>A	ENST00000264601.3	-	2	716	c.87C>T	c.(85-87)tcC>tcT	p.S29S	RAB17_ENST00000409822.1_Intron|RAB17_ENST00000409576.1_Intron|RAB17_ENST00000416106.1_5'UTR|RAB17_ENST00000538644.1_5'UTR	NM_022449.3	NP_071894.1	Q9H0T7	RAB17_HUMAN	RAB17, member RAS oncogene family	29					cilium assembly (GO:0042384)|endocytic recycling (GO:0032456)|establishment of melanosome localization (GO:0032401)|filopodium assembly (GO:0046847)|GTP catabolic process (GO:0006184)|immunoglobulin transcytosis in epithelial cells mediated by polymeric immunoglobulin receptor (GO:0002415)|melanosome transport (GO:0032402)|protein transport (GO:0015031)|regulation of dendrite development (GO:0050773)|regulation of filopodium assembly (GO:0051489)|regulation of synapse assembly (GO:0051963)|small GTPase mediated signal transduction (GO:0007264)|transcytosis (GO:0045056)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|dendrite (GO:0030425)|endocytic vesicle (GO:0030139)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|melanosome (GO:0042470)|neuronal cell body (GO:0043025)|recycling endosome (GO:0055037)|recycling endosome membrane (GO:0055038)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)			haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(1)	4		Renal(207;0.00272)|Breast(86;0.00297)|all_hematologic(139;0.182)|Ovarian(221;0.221)		Epithelial(121;9.36e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.26e-10)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000354)|Lung(119;0.011)|LUSC - Lung squamous cell carcinoma(224;0.026)		ACTTACCCACGGAGCCACTTC	0.602																																					Colon(56;987 1029 6466 13943 27336)	ENST00000264601.3																			0				haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(1)	4						c.(85-87)tcC>tcT		RAB17, member RAS oncogene family							79	73	75					2																	238494711		2203	4300	6503	SO:0001819	synonymous_variant	64284				protein transport|small GTPase mediated signal transduction	intracellular|plasma membrane	GTP binding|protein binding	g.chr2:238494711G>A	AK022600	CCDS2520.1	2q37.3	2008-05-23			ENSG00000124839	ENSG00000124839		"RAB, member RAS oncogene"	16523	protein-coding gene	gene with protein product		602206				9624171	Standard	NM_022449		Approved		uc002vwz.2	Q9H0T7	OTTHUMG00000133299	ENST00000264601.3:c.87C>T	2.37:g.238494711G>A						RAB17_ENST00000416106.1_5'UTR|RAB17_ENST00000409822.1_Intron|RAB17_ENST00000409576.1_Intron|RAB17_ENST00000538644.1_5'UTR	p.S29S	NM_022449.3	NP_071894.1	Q9H0T7	RAB17_HUMAN		Epithelial(121;9.36e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.26e-10)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000354)|Lung(119;0.011)|LUSC - Lung squamous cell carcinoma(224;0.026)	2	716	-		Renal(207;0.00272)|Breast(86;0.00297)|all_hematologic(139;0.182)|Ovarian(221;0.221)	29					Q53QV6|Q6IA73|Q6PJZ0|Q9BVU1|Q9H9U9	Silent	SNP	ENST00000264601.3	37	c.87C>T	CCDS2520.1	.	.	.	.	.	.	.	.	.	.	G	9.991	1.230948	0.22542	.	.	ENSG00000124839	ENST00000430445	.	.	.	4.16	-8.33	0.00992	.	.	.	.	.	T	0.33904	0.0879	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.37911	-0.9685	4	.	.	.	0.7317	1.6898	0.02849	0.174:0.2287:0.3712:0.2261	.	.	.	.	L	11	.	.	P	-	2	0	RAB17	238159450	0.000000	0.05858	0.063000	0.19743	0.988000	0.76386	-4.099000	0.00295	-2.186000	0.00760	-0.218000	0.12543	CCG		0.602	RAB17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257084.2			16	57	0	0	0	1	0	16	57					A	238494711	G	A	238494711	2	1	286	1	0	0	0	0	0	0	0	1	12902	1103	39	2		2	RAB17	2	238494711	Silent	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	1005530	238494711	4704662	125	13255											
D2HGDH	728294	broad.mit.edu	37	chr2	242707232	242707232	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggccgggcagcagggcagcGtcagcgcggagcacggagtg	7	2	20	12	6	1	0	1	0	0	0	1	2	1	2	1	5	4	4	1	5	0	0	rs539220817		TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr2:242707232G>A	ENST00000321264.4	+	10	1623	c.1414G>A	c.(1414-1416)Gtc>Atc	p.V472I	D2HGDH_ENST00000486953.1_3'UTR|D2HGDH_ENST00000403782.1_Missense_Mutation_p.V338I	NM_152783.3	NP_689996.4	Q8N465	D2HDH_HUMAN	D-2-hydroxyglutarate dehydrogenase	472					2-oxoglutarate metabolic process (GO:0006103)|cellular metabolic process (GO:0044237)|cellular protein metabolic process (GO:0044267)|response to cobalt ion (GO:0032025)|response to manganese ion (GO:0010042)|response to zinc ion (GO:0010043)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	(R)-2-hydroxyglutarate dehydrogenase activity (GO:0051990)|flavin adenine dinucleotide binding (GO:0050660)|UDP-N-acetylmuramate dehydrogenase activity (GO:0008762)			breast(1)|endometrium(3)|lung(10)|skin(1)|urinary_tract(1)	16		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;4.59e-33)|all cancers(36;9.89e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.89e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0833)		GCAGGGCAGCGTCAGCGCGGA	0.682													G|||	1	0.000199681	0	0.0014	5008	,	,		11934	0		0	False		,,,				2504	0					ENST00000321264.4																			0				breast(1)|endometrium(3)|lung(10)|skin(1)|urinary_tract(1)	16						c.(1414-1416)Gtc>Atc		D-2-hydroxyglutarate dehydrogenase							33	33	33					2																	242707232		2203	4294	6497	SO:0001583	missense	728294				2-oxoglutarate metabolic process|cellular protein metabolic process|response to cobalt ion|response to manganese ion|response to zinc ion	mitochondrial matrix	(R)-2-hydroxyglutarate dehydrogenase activity|flavin adenine dinucleotide binding|protein binding	g.chr2:242707232G>A	AK091725	CCDS33426.1, CCDS74684.1	2p25.3	2010-05-11			ENSG00000180902	ENSG00000180902	1.1.99.-		28358	protein-coding gene	gene with protein product		609186				15070399, 15609246	Standard	NM_152783		Approved	MGC25181, D2HGD, FLJ42195	uc002wce.1	Q8N465	OTTHUMG00000151474	ENST00000321264.4:c.1414G>A	2.37:g.242707232G>A	ENSP00000315351:p.Val472Ile					D2HGDH_ENST00000486953.1_3'UTR|D2HGDH_ENST00000403782.1_Missense_Mutation_p.V338I	p.V472I	NM_152783.3	NP_689996.4	Q8N465	D2HDH_HUMAN		Epithelial(32;4.59e-33)|all cancers(36;9.89e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.89e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0833)	10	1623	+		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)	472					B4E3L6|E7ENP2|Q6IQ24|Q8N5Q8	Missense_Mutation	SNP	ENST00000321264.4	37	c.1414G>A	CCDS33426.1	.	.	.	.	.	.	.	.	.	.	G	0.071	-1.202850	0.01581	.	.	ENSG00000180902	ENST00000321264;ENST00000403782;ENST00000542211	D;D	0.81821	-1.54;-1.54	4.76	1.91	0.25777	FAD-linked oxidase-like, C-terminal (1);FAD-linked oxidase, C-terminal (1);	0.181103	0.46145	D	0.000310	T	0.51041	0.1651	N	0.02708	-0.52	0.80722	D	1	B	0.18461	0.028	B	0.28465	0.09	T	0.48768	-0.9006	10	0.02654	T	1	0.0462	5.8054	0.18438	0.492:0.0:0.508:0.0	.	472	Q8N465	D2HDH_HUMAN	I	472;338;92	ENSP00000315351:V472I;ENSP00000384723:V338I	ENSP00000315351:V472I	V	+	1	0	D2HGDH	242355905	0.708000	0.27876	0.177000	0.23020	0.074000	0.17049	1.263000	0.33004	0.993000	0.38866	0.556000	0.70494	GTC		0.682	D2HGDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322794.2	NM_152783		4	25	0	0	0	1	0	4	25					A	242707232	G	A	242707232	3	1	286	1	0	0	0	0	1	0	0	0	4213	1145	40	1	1448	1	D2HGDH	2	242707232	Missense_Mutation	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	4212521	242707232	492141	126	13256											
IRAK2	3656	broad.mit.edu	37	chr3	10255194	10255194	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgttcaagtccaggatcaatCgaaagattcttccaggcaga	13	10	9	9	1	3	2	2	0	1	2	6	4	5	3	2	2	0	2	2	2	3	3	rs199981706		TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr3:10255194C>T	ENST00000256458.4	+	6	840	c.750C>T	c.(748-750)atC>atT	p.I250I		NM_001570.3	NP_001561.3	O43187	IRAK2_HUMAN	interleukin-1 receptor-associated kinase 2	250	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-1-mediated signaling pathway (GO:0070498)|JNK cascade (GO:0007254)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein phosphorylation (GO:0006468)|regulation of cytokine-mediated signaling pathway (GO:0001959)|response to interleukin-1 (GO:0070555)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|endosome membrane (GO:0010008)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)			breast(4)|large_intestine(8)|lung(11)|prostate(1)|stomach(1)	25						CAGGATCAATCGAAAGATTCT	0.463													c|||	1	0.000199681	0	0	5008	,	,		17917	0.001		0	False		,,,				2504	0					ENST00000256458.4																			0				breast(4)|large_intestine(8)|lung(11)|prostate(1)|stomach(1)	25						c.(748-750)atC>atT		interleukin-1 receptor-associated kinase 2							126	121	123					3																	10255194		2203	4300	6503	SO:0001819	synonymous_variant	3656				activation of MAPK activity|I-kappaB kinase/NF-kappaB cascade|inflammatory response|innate immune response|interleukin-1-mediated signaling pathway|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of NF-kappaB transcription factor activity|positive regulation of NF-kappaB transcription factor activity|regulation of cytokine-mediated signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cell surface|cytosol|endosome membrane|plasma membrane	ATP binding|NF-kappaB-inducing kinase activity|protein heterodimerization activity|protein homodimerization activity	g.chr3:10255194C>T	AF026273	CCDS33697.1	3p25.2	2008-08-18			ENSG00000134070	ENSG00000134070			6113	protein-coding gene	gene with protein product		603304				9374458	Standard	XR_245126		Approved		uc003bve.1	O43187	OTTHUMG00000155358	ENST00000256458.4:c.750C>T	3.37:g.10255194C>T							p.I250I	NM_001570.3	NP_001561.3	O43187	IRAK2_HUMAN			6	840	+			250			Protein kinase.		B4DQZ6|Q08AG6|Q5K546	Silent	SNP	ENST00000256458.4	37	c.750C>T	CCDS33697.1																																																																																				0.463	IRAK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339623.1			7	52	0	0	0	1	0	7	52					T	10255194	C	T	10255194	2	4	286	1	0	0	0	0	0	0	0	1	7823	874	31	2		2	IRAK2	3	10255194	Silent	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08		10255194	187767236	127	13257											
SYN2	6854	broad.mit.edu	37	chr3	12187198	12187198	+	RNA	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtccttccggccagacttcGtgctcatccggcagcatgca	6	9	11	15	3	1	1	1	0	0	1	5	1	4	1	4	3	3	4	4	3	0	2	rs548591048		TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr3:12187198G>A	ENST00000432424.2	+	0	719							Q92777	SYN2_HUMAN	synapsin II						neurotransmitter secretion (GO:0007269)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|synaptic vesicle (GO:0008021)	ATP binding (GO:0005524)|catalytic activity (GO:0003824)			breast(5)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)	18						GCCAGACTTCGTGCTCATCCG	0.527																																						ENST00000432424.2																			0				breast(5)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)	18								synapsin II							62	61	62					3																	12187198		2021	4202	6223			6854				neurotransmitter secretion	synaptic vesicle	ATP binding|ligase activity	g.chr3:12187198G>A		CCDS74900.1, CCDS74901.1	3p25.2	2013-09-20			ENSG00000157152	ENSG00000157152			11495	protein-coding gene	gene with protein product		600755				8530057	Standard	XM_006713311		Approved	SYNII, SYNIIa, SYNIIb	uc003bwm.3	Q92777	OTTHUMG00000155335		3.37:g.12187198G>A										Q86VA8	Q86VA8_HUMAN			0	719	+								A8MY98	RNA	SNP	ENST00000432424.2	37			.	.	.	.	.	.	.	.	.	.	G	21.6	4.173799	0.78452	.	.	ENSG00000157152	ENST00000540660	.	.	.	4.8	4.8	0.61643	Pre-ATP-grasp fold (1);PreATP-grasp-like fold (1);Synapsin, pre-ATP-grasp domain (1);	0.000000	0.85682	D	0.000000	T	0.70351	0.3214	M	0.81341	2.54	0.30859	N	0.733735	D;D	0.89917	1.0;1.0	P;P	0.62435	0.902;0.797	T	0.74907	-0.3504	9	0.87932	D	0	-11.4468	13.7854	0.63105	0.0:0.1533:0.8467:0.0	.	183;183	Q92777;Q92777-2	SYN2_HUMAN;.	M	115	.	ENSP00000442512:V115M	V	+	1	0	SYN2	12162198	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.516000	0.81772	2.488000	0.83962	0.650000	0.86243	GTG		0.527	SYN2-002	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000339528.3	NM_133625		7	30	0	0	0	1	0	7	30					A	12187198	G	A	12187198	1	1	286	0	1	0	0	0	0	0	0	0	15438	1145	40	1		1	SYN2	3	12187198	RNA	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	1932004	12187198	185835232	128	13258											
FBLN2	2199	broad.mit.edu	37	chr3	13649582	13649582	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gctccaccaaggacctgatcGagacttgctgcgcagccgga	9	6	12	14	3	0	2	0	1	0	1	2	5	1	4	4	2	3	3	4	2	1	1	rs201964777		TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr3:13649582G>A	ENST00000295760.7	+	3	1396	c.1327G>A	c.(1327-1329)Gag>Aag	p.E443K	FBLN2_ENST00000492059.1_Missense_Mutation_p.E443K|FBLN2_ENST00000535798.1_Missense_Mutation_p.E469K|FBLN2_ENST00000404922.3_Missense_Mutation_p.E443K	NM_001998.2	NP_001989.2	P98095	FBLN2_HUMAN	fibulin 2	443	N.|Subdomain NB (Cys-free).				extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	calcium ion binding (GO:0005509)|extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)			haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(3)|prostate(3)|urinary_tract(1)	24			UCEC - Uterine corpus endometrioid carcinoma (1;0.00416)			GGACCTGATCGAGACTTGCTG	0.572																																						ENST00000404922.3																			0				haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(3)|prostate(3)|urinary_tract(1)	24						c.(1327-1329)Gag>Aag		fibulin 2							56	60	59					3																	13649582		2165	4264	6429	SO:0001583	missense	2199					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent	g.chr3:13649582G>A	X82494	CCDS46761.1, CCDS46762.1	3p25-p24	2010-06-15			ENSG00000163520	ENSG00000163520		"Fibulins"	3601	protein-coding gene	gene with protein product		135821				7806230	Standard	NM_001165035		Approved		uc011ava.2	P98095	OTTHUMG00000155437	ENST00000295760.7:c.1327G>A	3.37:g.13649582G>A	ENSP00000295760:p.Glu443Lys					FBLN2_ENST00000492059.1_Missense_Mutation_p.E443K|FBLN2_ENST00000535798.1_Missense_Mutation_p.E469K|FBLN2_ENST00000295760.7_Missense_Mutation_p.E443K	p.E443K	NM_001004019.1	NP_001004019.1	P98095	FBLN2_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (1;0.00416)		3	1446	+			443			N.|Subdomain NB (Cys-free).		B7Z9C5|Q8IUI0|Q8IUI1	Missense_Mutation	SNP	ENST00000295760.7	37	c.1327G>A	CCDS46762.1	.	.	.	.	.	.	.	.	.	.	G	13.11	2.138162	0.37728	.	.	ENSG00000163520	ENST00000535798;ENST00000404922;ENST00000295760;ENST00000492059	T;T;T;T	0.80738	-1.41;-1.36;-1.32;-1.36	5.39	4.52	0.55395	.	0.133860	0.50627	D	0.000114	D	0.83394	0.5245	L	0.32530	0.975	0.46298	D	0.998974	B;D;P	0.89917	0.224;1.0;0.955	B;D;P	0.83275	0.028;0.996;0.574	D	0.83626	0.0142	10	0.51188	T	0.08	.	12.0743	0.53634	0.0809:0.0:0.9191:0.0	.	443;443;469	P98095;P98095-2;F5H1F3	FBLN2_HUMAN;.;.	K	469;443;443;443	ENSP00000445705:E469K;ENSP00000384169:E443K;ENSP00000295760:E443K;ENSP00000420042:E443K	ENSP00000295760:E443K	E	+	1	0	FBLN2	13624583	1.000000	0.71417	0.998000	0.56505	0.476000	0.33039	6.420000	0.73349	1.282000	0.44496	-0.373000	0.07131	GAG		0.572	FBLN2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000340083.3	NM_001004019		2	2	0	0	0	1	0	2	2					A	13649582	G	A	13649582	3	1	286	1	0	0	0	0	1	0	0	0	5699	1059	37	2	23	2	FBLN2	3	13649582	Missense_Mutation	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	1462384	13649582	184372848	129	13259											
ZNF385D	79750	broad.mit.edu	37	chr3	21792397	21792398	+	Frame_Shift_Del	DEL	TA	TA	-																															gaacactcaccaaaatacatTatgtttctcattaatcagac																										TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr3:21792397_21792398delTA	ENST00000281523.2	-	1	529_530	c.11_12delTA	c.(10-12)atafs	p.I4fs	ZNF385D_ENST00000494118.1_Intron	NM_024697.2	NP_078973.1	Q9H6B1	Z385D_HUMAN	zinc finger protein 385D	4						nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			NS(2)|breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(1)|prostate(1)|skin(4)	46						CAAAATACATTATGTTTCTCAT	0.47																																						ENST00000281523.2																			0				NS(2)|breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(1)|prostate(1)|skin(4)	46						c.(10-12)afs		zinc finger protein 385D				1,4265		0,1,2132						5.5	1			83	0,8254		0,0,4127	no	frameshift	ZNF385D	NM_024697.2		0,1,6259	A1A1,A1R,RR		0.0,0.0234,0.0080				1,12519				SO:0001589	frameshift_variant	79750					nucleus	nucleic acid binding|zinc ion binding	g.chr3:21792397_21792398delTA	BC007212	CCDS2636.1	3p24.3	2012-10-05	2007-12-06	2007-12-06	ENSG00000151789	ENSG00000151789			26191	protein-coding gene	gene with protein product			"zinc finger protein 659"	ZNF659		12477932	Standard	NM_024697		Approved	FLJ22419	uc003cce.3	Q9H6B1	OTTHUMG00000130484	ENST00000281523.2:c.11_12delTA	3.37:g.21792397_21792398delTA	ENSP00000281523:p.Ile4fs					ZNF385D_ENST00000494118.1_Intron	p.I4fs	NM_024697.2	NP_078973.1	Q9H6B1	Z385D_HUMAN			1	529_530	-			4						Frame_Shift_Del	DEL	ENST00000281523.2	37	c.11_12delTA	CCDS2636.1																																																																																				0.47	ZNF385D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252884.1	NM_024697		10	51						10	51	---	---	---	---	-	21792398	TA	-	21792397	7	5	286	1	0	1	0	1	0	0	0	0	17875	1744	61	0	1207	0	ZNF385D	3	21792397	Frame_Shift_Del	DEL	TA	TCGA-J9-A52C-01A-11D-A26M-08	8142815	21792397	176230033	130	13260											
EOMES	8320	broad.mit.edu	37	chr3	27759145	27759145	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggtctgtggcacggttctctCgccattataatagcgggctt	6	13	12	10	3	2	0	0	0	2	0	4	0	2	0	1	4	1	3	1	4	3	5			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr3:27759145C>T	ENST00000295743.4	-	6	1680	c.1477G>A	c.(1477-1479)Gag>Aag	p.E493K	EOMES_ENST00000461503.1_5'Flank|EOMES_ENST00000449599.1_Missense_Mutation_p.E512K|EOMES_ENST00000537516.1_Missense_Mutation_p.E217K			O95936	EOMES_HUMAN	eomesodermin	493					brain development (GO:0007420)|cardioblast differentiation (GO:0010002)|CD8-positive, alpha-beta T cell differentiation involved in immune response (GO:0002302)|cell differentiation involved in embryonic placenta development (GO:0060706)|cerebral cortex neuron differentiation (GO:0021895)|cerebral cortex regionalization (GO:0021796)|endoderm formation (GO:0001706)|endodermal cell fate specification (GO:0001714)|interferon-gamma production (GO:0032609)|mesoderm formation (GO:0001707)|mesodermal to mesenchymal transition involved in gastrulation (GO:0060809)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|olfactory bulb development (GO:0021772)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of neuron differentiation (GO:0045664)|skeletal muscle cell differentiation (GO:0035914)|stem cell maintenance (GO:0019827)|trophectodermal cell differentiation (GO:0001829)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(3)|prostate(1)	21						ACGGTTCTCTCGCCATTATAA	0.572																																						ENST00000295743.4																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(3)|prostate(1)	21						c.(1477-1479)Gag>Aag		eomesodermin							95	101	99					3																	27759145		2203	4300	6503	SO:0001583	missense	8320				CD8-positive, alpha-beta T cell differentiation involved in immune response|cell differentiation involved in embryonic placenta development|endoderm formation|mesoderm formation|mesodermal to mesenchymal transition involved in gastrulation|positive regulation of transcription, DNA-dependent	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr3:27759145C>T	BC025363	CCDS2646.1, CCDS63585.1	3p24.1	2011-06-13	2010-06-24		ENSG00000163508	ENSG00000163508		"T-boxes"	3372	protein-coding gene	gene with protein product	"T-box brain2"	604615	"eomesodermin (Xenopus laevis) homolog"			9888994, 9434949	Standard	NM_005442		Approved	TBR2	uc003cdy.4	O95936	OTTHUMG00000130570	ENST00000295743.4:c.1477G>A	3.37:g.27759145C>T	ENSP00000295743:p.Glu493Lys					EOMES_ENST00000537516.1_Missense_Mutation_p.E217K|EOMES_ENST00000449599.1_Missense_Mutation_p.E512K	p.E493K			O95936	EOMES_HUMAN			6	1680	-			493					B7Z4I2|B7ZA51|G3XAI5|Q8TAZ2|Q9UPM7	Missense_Mutation	SNP	ENST00000295743.4	37	c.1477G>A	CCDS2646.1	.	.	.	.	.	.	.	.	.	.	C	24.3	4.517522	0.85495	.	.	ENSG00000163508	ENST00000295743;ENST00000449599;ENST00000537516;ENST00000535713	D;D;D	0.86627	-2.09;-2.15;-1.8	4.71	4.71	0.59529	.	1.384890	0.04452	N	0.372798	D	0.93455	0.7912	M	0.70595	2.14	0.80722	D	1	P;D;D	0.69078	0.851;0.997;0.997	B;P;P	0.59643	0.326;0.861;0.73	D	0.86199	0.1617	10	0.56958	D	0.05	.	18.5481	0.91054	0.0:1.0:0.0:0.0	.	226;512;493	B7Z4I2;G3XAI5;O95936	.;.;EOMES_HUMAN	K	493;512;217;377	ENSP00000295743:E493K;ENSP00000388620:E512K;ENSP00000442097:E217K	ENSP00000295743:E493K	E	-	1	0	EOMES	27734149	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.445000	0.80570	2.551000	0.86045	0.563000	0.77884	GAG		0.572	EOMES-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252995.1	NM_005442		9	90	0	0	0	1	0	9	90					T	27759145	C	T	27759145	3	4	286	1	0	0	0	0	1	0	0	0	5147	893	31	2	587	2	EOMES	3	27759145	Missense_Mutation	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	5966748	27759145	170263285	131	13261											
VILL	50853	broad.mit.edu	37	chr3	38039124	38039124	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggcagcctgcgtgccgccAcgcccagcaaggatatcaac	9	5	12	15	3	1	0	1	0	0	0	1	1	1	1	4	2	5	2	4	2	3	1			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr3:38039124A>G	ENST00000283713.6	+	7	978	c.712A>G	c.(712-714)Acg>Gcg	p.T238A	VILL_ENST00000465644.1_Intron|VILL_ENST00000383759.2_Missense_Mutation_p.T238A			O15195	VILL_HUMAN	villin-like	238					actin filament capping (GO:0051693)|cytoskeleton organization (GO:0007010)	actin cytoskeleton (GO:0015629)	structural constituent of cytoskeleton (GO:0005200)			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|stomach(3)|urinary_tract(2)	28				KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)		GCGTGCCGCCACGCCCAGCAA	0.632																																						ENST00000283713.6																			0				cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|stomach(3)|urinary_tract(2)	28						c.(712-714)Acg>Gcg		villin-like							60	55	56					3																	38039124		2203	4300	6503	SO:0001583	missense	50853				actin filament capping|cytoskeleton organization	actin cytoskeleton	actin binding|structural constituent of cytoskeleton	g.chr3:38039124A>G		CCDS2670.2	3p21	2004-07-28			ENSG00000136059	ENSG00000136059			30906	protein-coding gene	gene with protein product						9179494	Standard	XM_005265191		Approved		uc003chl.3	O15195	OTTHUMG00000130814	ENST00000283713.6:c.712A>G	3.37:g.38039124A>G	ENSP00000283713:p.Thr238Ala					VILL_ENST00000465644.1_Intron|VILL_ENST00000383759.2_Missense_Mutation_p.T238A	p.T238A			O15195	VILL_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)	7	978	+			238					A8MZP1|Q9BT80|Q9BWH7	Missense_Mutation	SNP	ENST00000283713.6	37	c.712A>G	CCDS2670.2	.	.	.	.	.	.	.	.	.	.	A	2.943	-0.218431	0.06101	.	.	ENSG00000136059	ENST00000283713;ENST00000383759;ENST00000356246	T;T	0.12984	2.63;2.63	4.16	-1.62	0.08372	.	0.683510	0.15318	N	0.268711	T	0.04452	0.0122	N	0.08118	0	0.09310	N	1	B;B	0.15930	0.015;0.0	B;B	0.25405	0.06;0.002	T	0.40887	-0.9539	10	0.08599	T	0.76	-1.3017	2.1993	0.03919	0.3124:0.1421:0.4053:0.1402	.	238;238	O15195-2;O15195	.;VILL_HUMAN	A	238	ENSP00000283713:T238A;ENSP00000373266:T238A	ENSP00000283713:T238A	T	+	1	0	VILL	38014128	0.000000	0.05858	0.000000	0.03702	0.030000	0.12068	-1.485000	0.02314	-0.136000	0.11475	0.533000	0.62120	ACG		0.632	VILL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253360.3	NM_015873		8	54	0	0	0	1	0	8	54					G	38039124	A	G	38039124	3	3	286	1	0	0	0	0	1	0	0	0	17162	159	6	4	734	4	VILL	3	38039124	Missense_Mutation	SNP	A	TCGA-J9-A52C-01A-11D-A26M-08	10279979	38039124	159983306	132	13262											
XIRP1	165904	broad.mit.edu	37	chr3	39229797	39229797	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtttcaaatagccacagggtGgagcggacatcaccagggac	12	6	13	10	1	2	0	2	0	0	0	2	3	2	3	2	4	2	1	2	4	2	2			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr3:39229797G>A	ENST00000340369.3	-	2	1368	c.1140C>T	c.(1138-1140)tcC>tcT	p.S380S	XIRP1_ENST00000421646.1_Intron|XIRP1_ENST00000396251.1_Silent_p.S380S	NM_194293.2	NP_919269.2	Q702N8	XIRP1_HUMAN	xin actin-binding repeat containing 1	380					cardiac muscle cell development (GO:0055013)|negative regulation of cell proliferation (GO:0008285)|regulation of membrane potential (GO:0042391)|sarcomere organization (GO:0045214)	fascia adherens (GO:0005916)	poly(A) RNA binding (GO:0044822)			breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6)	71				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		GCCACAGGGTGGAGCGGACAT	0.592																																						ENST00000340369.3																			0				breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6)	71						c.(1138-1140)tcC>tcT		xin actin-binding repeat containing 1							133	138	136					3																	39229797		2203	4300	6503	SO:0001819	synonymous_variant	165904						actin binding	g.chr3:39229797G>A	AW755250	CCDS2683.1, CCDS56245.1	3p21.33	2008-02-05	2007-06-27	2007-06-27	ENSG00000168334	ENSG00000168334			14301	protein-coding gene	gene with protein product		609777	"cardiomyopathy associated 1"	CMYA1		12203715, 15454575	Standard	NM_001198621		Approved	DKFZp451D042, Xin	uc003cjk.2	Q702N8	OTTHUMG00000131297	ENST00000340369.3:c.1140C>T	3.37:g.39229797G>A						XIRP1_ENST00000421646.1_Intron|XIRP1_ENST00000396251.1_Silent_p.S380S	p.S380S	NM_194293.2	NP_919269.2	Q702N8	XIRP1_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)	2	1368	-			380					A0JP25|A4QPE2|Q68DF2|Q6ZTR3|Q702N9|Q8IVN7|Q8N1N3|Q8N904|Q8TCG7	Silent	SNP	ENST00000340369.3	37	c.1140C>T	CCDS2683.1																																																																																				0.592	XIRP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254065.1	XM_093522		27	165	0	0	0	1	0	27	165					A	39229797	G	A	39229797	2	1	286	1	0	0	0	0	0	0	0	1	17426	1335	47	3		3	XIRP1	3	39229797	Silent	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	1190673	39229797	158792633	133	13263											
ZNF660	285349	broad.mit.edu	37	chr3	44636041	44636041	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gaaatctttcagtggaaagtCacatcttattcggcaccagg	12	11	9	9	1	4	0	2	0	2	0	5	2	4	1	1	3	0	1	1	3	3	3			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr3:44636041C>T	ENST00000322734.2	+	3	689	c.356C>T	c.(355-357)tCa>tTa	p.S119L	RP11-944L7.4_ENST00000457331.1_RNA	NM_173658.2	NP_775929.2	Q6AZW8	ZN660_HUMAN	zinc finger protein 660	119					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			large_intestine(2)|lung(4)	6				KIRC - Kidney renal clear cell carcinoma(197;0.0468)|Kidney(197;0.0585)		AGTGGAAAGTCACATCTTATT	0.448																																						ENST00000322734.2																			0				large_intestine(2)|lung(4)	6						c.(355-357)tCa>tTa		zinc finger protein 660							67	74	72					3																	44636041		2203	4300	6503	SO:0001583	missense	285349				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr3:44636041C>T	AK094189	CCDS2716.1	3p21.32	2013-01-08			ENSG00000144792	ENSG00000144792		"Zinc fingers, C2H2-type"	26720	protein-coding gene	gene with protein product							Standard	NM_173658		Approved	FLJ36870	uc003cnl.1	Q6AZW8	OTTHUMG00000133097	ENST00000322734.2:c.356C>T	3.37:g.44636041C>T	ENSP00000324605:p.Ser119Leu					RP11-944L7.4_ENST00000457331.1_RNA	p.S119L	NM_173658.2	NP_775929.2	Q6AZW8	ZN660_HUMAN		KIRC - Kidney renal clear cell carcinoma(197;0.0468)|Kidney(197;0.0585)	3	689	+			119					Q7Z331|Q8N9M8	Missense_Mutation	SNP	ENST00000322734.2	37	c.356C>T	CCDS2716.1	.	.	.	.	.	.	.	.	.	.	C	14.45	2.539771	0.45176	.	.	ENSG00000144792	ENST00000322734	T	0.07444	3.19	4.3	4.3	0.51218	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.15089	0.0364	M	0.68593	2.085	0.80722	D	1	P	0.43477	0.808	P	0.44597	0.454	T	0.02603	-1.1135	8	.	.	.	.	16.0513	0.80765	0.0:1.0:0.0:0.0	.	119	Q6AZW8	ZN660_HUMAN	L	119	ENSP00000324605:S119L	.	S	+	2	0	ZNF660	44611045	0.000000	0.05858	0.998000	0.56505	0.990000	0.78478	0.242000	0.18087	2.376000	0.81061	0.650000	0.86243	TCA		0.448	ZNF660-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256756.4	NM_173658		8	31	0	0	0	1	0	8	31					T	44636041	C	T	44636041	3	4	286	1	0	0	0	0	1	0	0	0	18067	838	29	3	358	3	ZNF660	3	44636041	Missense_Mutation	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	5406244	44636041	153386389	134	13264											
ALS2CL	259173	broad.mit.edu	37	chr3	46721968	46721968	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tggtagcagacacctgcctgGgtgaccatgacccctgggcc	7	7	13	14	0	0	3	0	2	0	1	0	3	0	3	6	3	2	2	6	3	1	1			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr3:46721968G>A	ENST00000318962.4	-	14	1583	c.1500C>T	c.(1498-1500)acC>acT	p.T500T	ALS2CL_ENST00000415953.1_Silent_p.T500T	NM_147129.3	NP_667340.2	Q60I27	AL2CL_HUMAN	ALS2 C-terminal like	500					endosome organization (GO:0007032)|protein localization (GO:0008104)	cytoplasmic membrane-bounded vesicle (GO:0016023)	GTPase activator activity (GO:0005096)|identical protein binding (GO:0042802)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(3)|stomach(2)	29				BRCA - Breast invasive adenocarcinoma(193;0.000726)|KIRC - Kidney renal clear cell carcinoma(197;0.0171)|Kidney(197;0.0202)		CACCTGCCTGGGTGACCATGA	0.617																																						ENST00000318962.4																			0				NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(3)|stomach(2)	29						c.(1498-1500)acC>acT		ALS2 C-terminal like							103	95	98					3																	46721968		2203	4300	6503	SO:0001819	synonymous_variant	259173				endosome organization|regulation of Rho protein signal transduction		GTPase activator activity|identical protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr3:46721968G>A	AK074118	CCDS2743.1, CCDS43080.1	3p21.31	2008-01-30			ENSG00000178038	ENSG00000178038			20605	protein-coding gene	gene with protein product		612402				15388334, 8889548, 17239822	Standard	NM_147129		Approved	FLJ36525, RN49018, DKFZp686I0110	uc003cqb.2	Q60I27	OTTHUMG00000128673	ENST00000318962.4:c.1500C>T	3.37:g.46721968G>A						ALS2CL_ENST00000415953.1_Silent_p.T500T	p.T500T	NM_147129.3	NP_667340.2	Q60I27	AL2CL_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000726)|KIRC - Kidney renal clear cell carcinoma(197;0.0171)|Kidney(197;0.0202)	14	1583	-			500					Q32MA1|Q6AI56|Q6ZNC5|Q6ZNC7|Q6ZTL4|Q86YD2|Q8N9U1|Q8NAL7	Silent	SNP	ENST00000318962.4	37	c.1500C>T	CCDS2743.1																																																																																				0.617	ALS2CL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250567.3	NM_147129		17	111	0	0	0	1	0	17	111					A	46721968	G	A	46721968	2	1	286	1	0	0	0	0	0	0	0	1	551	1219	43	3		3	ALS2CL	3	46721968	Silent	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	2085927	46721968	151300462	135	13265											
CDC25A	993	broad.mit.edu	37	chr3	48200920	48200920	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggggtattcattacccaggcGatctctctctctcacatacc	8	12	7	14	1	4	0	2	0	3	0	7	1	4	0	2	3	2	1	2	3	3	4			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr3:48200920G>A	ENST00000302506.3	-	14	1756	c.1348C>T	c.(1348-1350)Cgc>Tgc	p.R450C	CDC25A_ENST00000351231.3_Missense_Mutation_p.R410C	NM_001789.2	NP_001780.2	P30304	MPIP1_HUMAN	cell division cycle 25A	450	Rhodanese. {ECO:0000255|PROSITE- ProRule:PRU00173}.				cell proliferation (GO:0008283)|cellular response to UV (GO:0034644)|DNA replication (GO:0006260)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|regulation of cell cycle (GO:0051726)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|response to radiation (GO:0009314)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(9)|prostate(1)|skin(1)	20				BRCA - Breast invasive adenocarcinoma(193;0.000685)|KIRC - Kidney renal clear cell carcinoma(197;0.00596)|Kidney(197;0.00684)		TTACCCAGGCGATCTCTCTCT	0.512																																						ENST00000302506.3																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(9)|prostate(1)|skin(1)	20						c.(1348-1350)Cgc>Tgc		cell division cycle 25A							106	90	96					3																	48200920		2203	4300	6503	SO:0001583	missense	993				cell cycle checkpoint|cell division|cell proliferation|cellular response to UV|DNA replication|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|mitosis|regulation of cyclin-dependent protein kinase activity|S phase of mitotic cell cycle	cytosol|nucleoplasm	protein binding|protein tyrosine phosphatase activity	g.chr3:48200920G>A	M81933	CCDS2760.1, CCDS2761.1	3p21	2013-01-17	2013-01-17		ENSG00000164045	ENSG00000164045		"Protein tyrosine phosphatases / Class III Cys-based PTPs"	1725	protein-coding gene	gene with protein product		116947	"cell division cycle 25A", "cell division cycle 25 homolog A (S. cerevisiae)", "cell division cycle 25 homolog A (S. pombe)"			1836978	Standard	NM_001789		Approved		uc003csh.1	P30304	OTTHUMG00000133535	ENST00000302506.3:c.1348C>T	3.37:g.48200920G>A	ENSP00000303706:p.Arg450Cys					CDC25A_ENST00000351231.3_Missense_Mutation_p.R410C	p.R450C	NM_001789.2	NP_001780.2	P30304	MPIP1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000685)|KIRC - Kidney renal clear cell carcinoma(197;0.00596)|Kidney(197;0.00684)	14	1756	-			450			Rhodanese.		Q8IZH5|Q96IL3|Q9H2F2	Missense_Mutation	SNP	ENST00000302506.3	37	c.1348C>T	CCDS2760.1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.344385	0.82022	.	.	ENSG00000164045	ENST00000302506;ENST00000351231	T;T	0.25749	1.78;1.78	5.76	4.86	0.63082	Rhodanese-like (5);	0.000000	0.85682	D	0.000000	T	0.65502	0.2697	H	0.97291	3.975	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.78298	-0.2258	10	0.87932	D	0	.	13.531	0.61621	0.0:0.0:0.8379:0.1621	.	410;450	P30304-2;P30304	.;MPIP1_HUMAN	C	450;410	ENSP00000303706:R450C;ENSP00000343166:R410C	ENSP00000303706:R450C	R	-	1	0	CDC25A	48175924	1.000000	0.71417	0.930000	0.37139	0.702000	0.40608	3.997000	0.57016	1.369000	0.46134	0.655000	0.94253	CGC		0.512	CDC25A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257512.2	NM_001789		11	57	0	0	0	1	0	11	57					A	48200920	G	A	48200920	3	1	286	1	0	0	0	0	1	0	0	0	3062	1058	37	2	234	2	CDC25A	3	48200920	Missense_Mutation	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	1478952	48200920	149821510	136	13266											
WDR6	11180	broad.mit.edu	37	chr3	49049664	49049664	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagcttcagaagaccgaagcGttcgtatctggaaggtgggc	10	8	14	9	3	2	2	1	0	1	2	3	4	2	3	1	3	2	3	1	3	4	3	rs190640692	byFrequency	TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr3:49049664G>A	ENST00000608424.1	+	2	736	c.697G>A	c.(697-699)Gtt>Att	p.V233I	WDR6_ENST00000448293.1_Missense_Mutation_p.V182I|WDR6_ENST00000489684.1_3'UTR|WDR6_ENST00000415265.2_Intron|WDR6_ENST00000395474.3_Missense_Mutation_p.V263I			Q9NNW5	WDR6_HUMAN	WD repeat domain 6	233					cell cycle arrest (GO:0007050)|negative regulation of autophagy (GO:0010507)|negative regulation of cell proliferation (GO:0008285)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|liver(1)|lung(9)|ovary(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26				Kidney(197;9.12e-07)|KIRC - Kidney renal clear cell carcinoma(197;1.32e-05)|BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000155)		AGACCGAAGCGTTCGTATCTG	0.577																																						ENST00000395474.3																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|liver(1)|lung(9)|ovary(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26						c.(787-789)Gtt>Att		WD repeat domain 6							92	93	93					3																	49049664		2203	4300	6503	SO:0001583	missense	11180				cell cycle arrest|negative regulation of cell proliferation	cytoplasm		g.chr3:49049664G>A	AF099100	CCDS2782.2	3p21.31	2013-01-09			ENSG00000178252	ENSG00000178252		"WD repeat domain containing"	12758	protein-coding gene	gene with protein product		606031					Standard	NM_018031		Approved		uc003cvj.2	Q9NNW5	OTTHUMG00000133546	ENST00000608424.1:c.697G>A	3.37:g.49049664G>A	ENSP00000477389:p.Val233Ile					WDR6_ENST00000415265.2_Intron|WDR6_ENST00000448293.1_Missense_Mutation_p.V182I|WDR6_ENST00000489684.1_3'UTR	p.V263I	NM_018031.3	NP_060501.3	Q9NNW5	WDR6_HUMAN		Kidney(197;9.12e-07)|KIRC - Kidney renal clear cell carcinoma(197;1.32e-05)|BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000155)	2	1067	+			233					B4DHK2|Q3MIT1|Q9UF63	Missense_Mutation	SNP	ENST00000608424.1	37	c.787G>A		.	.	.	.	.	.	.	.	.	.	G	14.07	2.425403	0.43020	.	.	ENSG00000178252	ENST00000395474;ENST00000438660;ENST00000448293	T;T;T	0.57107	0.42;0.42;0.42	5.62	3.8	0.43715	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.192532	0.45126	D	0.000385	T	0.37705	0.1013	L	0.31120	0.905	0.42650	D	0.993445	P;P;P	0.52170	0.951;0.949;0.891	B;P;B	0.47915	0.32;0.561;0.32	T	0.26224	-1.0109	10	0.07482	T	0.82	-24.2026	6.3667	0.21459	0.14:0.2763:0.5837:0.0	.	104;233;182	B4DK45;Q9NNW5;E9PDU5	.;WDR6_HUMAN;.	I	263;265;182	ENSP00000378857:V263I;ENSP00000387692:V265I;ENSP00000413432:V182I	ENSP00000378857:V263I	V	+	1	0	WDR6	49024668	0.996000	0.38824	0.995000	0.50966	0.974000	0.67602	2.048000	0.41278	2.650000	0.89964	0.561000	0.74099	GTT		0.577	WDR6-024	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000471652.1			24	111	0	0	0	1	0	24	111					A	49049664	G	A	49049664	3	1	286	1	0	0	0	0	1	0	0	0	17307	1145	40	1	793	1	WDR6	3	49049664	Missense_Mutation	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	848744	49049664	148972766	137	13267											
LAMB2	3913	broad.mit.edu	37	chr3	49161296	49161296	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caaaggcacccagcacacccGtctgttgcaactcctgcgcc	9	6	8	18	2	1	0	0	0	1	0	2	0	2	0	4	1	4	4	4	1	2	1			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr3:49161296G>A	ENST00000418109.1	-	25	3826	c.3662C>T	c.(3661-3663)aCg>aTg	p.T1221M	LAMB2_ENST00000464891.1_5'Flank|USP19_ENST00000453664.1_5'Flank|USP19_ENST00000398888.2_5'Flank|USP19_ENST00000488993.1_5'Flank|USP19_ENST00000398892.3_5'Flank|LAMB2_ENST00000305544.4_Missense_Mutation_p.T1221M	NM_002292.3	NP_002283.3	P55268	LAMB2_HUMAN	laminin, beta 2 (laminin S)	1221	Domain II.				astrocyte development (GO:0014002)|axon extension involved in regeneration (GO:0048677)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|metanephric glomerular basement membrane development (GO:0072274)|metanephric glomerular visceral epithelial cell development (GO:0072249)|neuromuscular junction development (GO:0007528)|retina development in camera-type eye (GO:0060041)|Schwann cell development (GO:0014044)|visual perception (GO:0007601)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-11 complex (GO:0043260)|laminin-3 complex (GO:0005608)|synapse (GO:0045202)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|endometrium(15)|kidney(3)|large_intestine(6)|lung(21)|ovary(4)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		CAGCACACCCGTCTGTTGCAA	0.632																																						ENST00000418109.1																			0				NS(1)|breast(1)|endometrium(15)|kidney(3)|large_intestine(6)|lung(21)|ovary(4)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61						c.(3661-3663)aCg>aTg		laminin, beta 2 (laminin S)							45	45	45					3																	49161296		2203	4300	6503	SO:0001583	missense	3913				cell adhesion	laminin-11 complex|laminin-3 complex	structural molecule activity	g.chr3:49161296G>A		CCDS2789.1	3p21.3-p21.2	2013-03-01			ENSG00000172037	ENSG00000172037		"Laminins"	6487	protein-coding gene	gene with protein product	"laminin S"	150325		LAMS		2922051, 10393422	Standard	NM_002292		Approved		uc003cwe.3	P55268	OTTHUMG00000156807	ENST00000418109.1:c.3662C>T	3.37:g.49161296G>A	ENSP00000388325:p.Thr1221Met					LAMB2_ENST00000305544.4_Missense_Mutation_p.T1221M	p.T1221M	NM_002292.3	NP_002283.3	P55268	LAMB2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	25	3826	-			1221			Domain II.		Q16321	Missense_Mutation	SNP	ENST00000418109.1	37	c.3662C>T	CCDS2789.1	.	.	.	.	.	.	.	.	.	.	G	17.21	3.331736	0.60853	.	.	ENSG00000172037	ENST00000418109;ENST00000305544	T;T	0.35421	1.31;1.31	5.84	4.78	0.61160	.	0.223959	0.44688	D	0.000424	T	0.40145	0.1105	L	0.50333	1.59	0.50171	D	0.999853	D	0.60160	0.987	P	0.50049	0.629	T	0.12116	-1.0560	10	0.46703	T	0.11	.	11.2918	0.49254	0.0765:0.1304:0.7931:0.0	.	1221	P55268	LAMB2_HUMAN	M	1221	ENSP00000388325:T1221M;ENSP00000307156:T1221M	ENSP00000307156:T1221M	T	-	2	0	LAMB2	49136300	0.998000	0.40836	0.994000	0.49952	0.886000	0.51366	2.698000	0.47068	2.768000	0.95171	0.561000	0.74099	ACG		0.632	LAMB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345939.1	NM_002292		11	66	0	0	0	1	0	11	66					A	49161296	G	A	49161296	3	1	286	1	0	0	0	0	1	0	0	0	8611	1145	40	1	1770	1	LAMB2	3	49161296	Missense_Mutation	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	111632	49161296	148861134	138	13268											
LAMB2	3913	broad.mit.edu	37	chr3	49168460	49168460	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtagcagaagcagttgccacGtacaaccagctcatagaggg	13	6	12	10	1	1	2	1	0	0	2	1	2	1	2	2	1	6	6	2	1	5	4			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr3:49168460G>A	ENST00000418109.1	-	8	1002	c.838C>T	c.(838-840)Cgt>Tgt	p.R280C	LAMB2_ENST00000305544.4_Missense_Mutation_p.R280C	NM_002292.3	NP_002283.3	P55268	LAMB2_HUMAN	laminin, beta 2 (laminin S)	280	Laminin N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00466}.				astrocyte development (GO:0014002)|axon extension involved in regeneration (GO:0048677)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|metanephric glomerular basement membrane development (GO:0072274)|metanephric glomerular visceral epithelial cell development (GO:0072249)|neuromuscular junction development (GO:0007528)|retina development in camera-type eye (GO:0060041)|Schwann cell development (GO:0014044)|visual perception (GO:0007601)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-11 complex (GO:0043260)|laminin-3 complex (GO:0005608)|synapse (GO:0045202)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|endometrium(15)|kidney(3)|large_intestine(6)|lung(21)|ovary(4)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		CAGTTGCCACGTACAACCAGC	0.592																																						ENST00000418109.1																			0				NS(1)|breast(1)|endometrium(15)|kidney(3)|large_intestine(6)|lung(21)|ovary(4)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61						c.(838-840)Cgt>Tgt		laminin, beta 2 (laminin S)							154	141	145					3																	49168460		2203	4300	6503	SO:0001583	missense	3913				cell adhesion	laminin-11 complex|laminin-3 complex	structural molecule activity	g.chr3:49168460G>A		CCDS2789.1	3p21.3-p21.2	2013-03-01			ENSG00000172037	ENSG00000172037		"Laminins"	6487	protein-coding gene	gene with protein product	"laminin S"	150325		LAMS		2922051, 10393422	Standard	NM_002292		Approved		uc003cwe.3	P55268	OTTHUMG00000156807	ENST00000418109.1:c.838C>T	3.37:g.49168460G>A	ENSP00000388325:p.Arg280Cys					LAMB2_ENST00000305544.4_Missense_Mutation_p.R280C	p.R280C	NM_002292.3	NP_002283.3	P55268	LAMB2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	8	1002	-			280			Laminin N-terminal.		Q16321	Missense_Mutation	SNP	ENST00000418109.1	37	c.838C>T	CCDS2789.1	.	.	.	.	.	.	.	.	.	.	G	17.44	3.390279	0.62066	.	.	ENSG00000172037	ENST00000418109;ENST00000305544;ENST00000494831	T;T;T	0.78364	-1.17;-1.17;-1.17	4.76	4.76	0.60689	Laminin, N-terminal (3);	0.000000	0.85682	D	0.000000	D	0.90981	0.7164	M	0.93678	3.445	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.92961	0.6389	10	0.66056	D	0.02	.	17.0538	0.86527	0.0:0.0:1.0:0.0	.	280	P55268	LAMB2_HUMAN	C	280;280;131	ENSP00000388325:R280C;ENSP00000307156:R280C;ENSP00000444751:R131C	ENSP00000307156:R280C	R	-	1	0	LAMB2	49143464	1.000000	0.71417	0.881000	0.34555	0.545000	0.35147	7.054000	0.76649	2.630000	0.89119	0.655000	0.94253	CGT		0.592	LAMB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345939.1	NM_002292		16	65	0	0	0	1	0	16	65					A	49168460	G	A	49168460	3	1	286	1	0	0	0	0	1	0	0	0	8611	1145	40	1	4662	1	LAMB2	3	49168460	Missense_Mutation	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	7164	49168460	148853970	139	13269											
SEMA3F	6405	broad.mit.edu	37	chr3	50224121	50224121	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccttgagtgccagccccgctCgccccaagccactgttaagt	7	8	9	17	2	0	1	0	1	0	0	1	1	0	1	7	0	3	2	7	0	2	2	rs200910175		TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr3:50224121C>T	ENST00000002829.3	+	18	2373	c.1889C>T	c.(1888-1890)tCg>tTg	p.S630L	SEMA3F_ENST00000434342.1_Missense_Mutation_p.S599L|SEMA3F_ENST00000413852.1_Missense_Mutation_p.S531L	NM_004186.3	NP_004177.3	Q13275	SEM3F_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3F	630	Ig-like C2-type.				axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|branchiomotor neuron axon guidance (GO:0021785)|facial nerve structural organization (GO:0021612)|negative regulation of axon extension involved in axon guidance (GO:0048843)|nerve development (GO:0021675)|neural crest cell migration (GO:0001755)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|semaphorin-plexin signaling pathway involved in neuron projection guidance (GO:1902285)|sympathetic ganglion development (GO:0061549)|sympathetic neuron projection extension (GO:0097490)|sympathetic neuron projection guidance (GO:0097491)|trigeminal nerve structural organization (GO:0021637)	extracellular space (GO:0005615)|membrane (GO:0016020)	chemorepellent activity (GO:0045499)|receptor activity (GO:0004872)			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(2)	17				BRCA - Breast invasive adenocarcinoma(193;0.00013)|KIRC - Kidney renal clear cell carcinoma(197;0.00599)|Kidney(197;0.00688)		CAGCCCCGCTCGCCCCAAGCC	0.622																																						ENST00000002829.3																			0				central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(2)	17						c.(1888-1890)tCg>tTg		sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3F							38	36	37					3																	50224121		2203	4300	6503	SO:0001583	missense	6405				axon guidance	extracellular space|membrane	chemorepellent activity|receptor activity	g.chr3:50224121C>T	U33920	CCDS2811.1	3p21.3	2013-01-11			ENSG00000001617	ENSG00000001617		"Semaphorins", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	10728	protein-coding gene	gene with protein product	"sema IV"	601124				8786119, 8649831	Standard	NM_004186		Approved	SEMAK, Sema4	uc003cyj.3	Q13275	OTTHUMG00000156806	ENST00000002829.3:c.1889C>T	3.37:g.50224121C>T	ENSP00000002829:p.Ser630Leu					SEMA3F_ENST00000434342.1_Missense_Mutation_p.S599L|SEMA3F_ENST00000413852.1_Missense_Mutation_p.S531L	p.S630L	NM_004186.3	NP_004177.3	Q13275	SEM3F_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00013)|KIRC - Kidney renal clear cell carcinoma(197;0.00599)|Kidney(197;0.00688)	18	2373	+			630			Ig-like C2-type.		C9JQ85|Q13274|Q13372|Q15704|Q6GTR4	Missense_Mutation	SNP	ENST00000002829.3	37	c.1889C>T	CCDS2811.1	.	.	.	.	.	.	.	.	.	.	C	36	5.700441	0.96802	.	.	ENSG00000001617	ENST00000413852;ENST00000002829;ENST00000434342	T;T;T	0.01854	4.6;4.6;4.6	5.89	5.89	0.94794	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.109676	0.64402	D	0.000005	T	0.12347	0.0300	M	0.86343	2.81	0.58432	D	0.999999	D;D	0.62365	0.991;0.972	P;B	0.53035	0.716;0.436	T	0.00130	-1.2014	10	0.87932	D	0	.	19.8722	0.96854	0.0:1.0:0.0:0.0	.	599;630	C9JQ85;Q13275	.;SEM3F_HUMAN	L	531;630;599	ENSP00000388931:S531L;ENSP00000002829:S630L;ENSP00000409859:S599L	ENSP00000002829:S630L	S	+	2	0	SEMA3F	50199125	1.000000	0.71417	0.967000	0.41034	0.856000	0.48823	7.665000	0.83852	2.793000	0.96121	0.655000	0.94253	TCG		0.622	SEMA3F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345929.1	NM_004186		5	31	0	0	0	1	0	5	31					T	50224121	C	T	50224121	3	4	286	1	0	0	0	0	1	0	0	0	14029	893	31	2	1955	2	SEMA3F	3	50224121	Missense_Mutation	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	1055661	50224121	147798309	140	13270											
IQCF2	389123	broad.mit.edu	37	chr3	51897158	51897158	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	agggtgctggagaagaaacgGcaggcagctctgatcgccta	11	6	15	9	2	1	3	0	1	1	2	2	4	1	3	1	4	3	4	1	4	3	1			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr3:51897158G>A	ENST00000333127.3	+	3	296	c.267G>A	c.(265-267)cgG>cgA	p.R89R	IQCF2_ENST00000429548.1_3'UTR	NM_203424.1	NP_982248.1	Q8IXL9	IQCF2_HUMAN	IQ motif containing F2	89										endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	10				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		AGAAGAAACGGCAGGCAGCTC	0.612																																						ENST00000333127.3																			0				endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	10						c.(265-267)cgG>cgA		IQ motif containing F2							100	96	97					3																	51897158		2203	4300	6503	SO:0001819	synonymous_variant	389123							g.chr3:51897158G>A	AK128883	CCDS2835.1	3p21.31	2008-02-05			ENSG00000184345	ENSG00000184345			31815	protein-coding gene	gene with protein product							Standard	NM_203424		Approved		uc003dbt.1	Q8IXL9	OTTHUMG00000156914	ENST00000333127.3:c.267G>A	3.37:g.51897158G>A						IQCF2_ENST00000429548.1_3'UTR	p.R89R	NM_203424.1	NP_982248.1	Q8IXL9	IQCF2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	3	296	+			89						Silent	SNP	ENST00000333127.3	37	c.267G>A	CCDS2835.1																																																																																				0.612	IQCF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346594.1	NM_203424		8	42	0	0	0	1	0	8	42					A	51897158	G	A	51897158	2	1	286	1	0	0	0	0	0	0	0	1	7808	1190	42	3		3	IQCF2	3	51897158	Silent	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	1673037	51897158	146125272	141	13271											
DNAH1	25981	broad.mit.edu	37	chr3	52412624	52412624	+	Frame_Shift_Del	DEL	C	C	-																															tcctattcccccagctggggCcccccacattgcccacttca																										TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr3:52412624delC	ENST00000420323.2	+	47	7466	c.7205delC	c.(7204-7206)gccfs	p.A2402fs		NM_015512.4	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	2402	AAA 3. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|response to mechanical stimulus (GO:0009612)	axonemal dynein complex (GO:0005858)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		CCAGCTGGGGCCCCCCACATT	0.627																																						ENST00000420323.2																			0				cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62						c.(7204-7206)gcfs		dynein, axonemal, heavy chain 1							84	94	91					3																	52412624		1959	4153	6112	SO:0001589	frameshift_variant	25981				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr3:52412624delC	U61738	CCDS46842.1	3p21-p14	2008-02-05	2006-09-04		ENSG00000114841	ENSG00000114841		"Axonemal dyneins"	2940	protein-coding gene	gene with protein product		603332	"dynein, axonemal, heavy polypeptide 1"			8812413, 9256245	Standard	NM_015512		Approved	XLHSRF-1, DNAHC1, HDHC7, HL-11, HL11	uc011bef.2	Q9P2D7	OTTHUMG00000158378	ENST00000420323.2:c.7205delC	3.37:g.52412624delC	ENSP00000401514:p.Ala2402fs						p.A2402fs	NM_015512.4	NP_056327.4	Q9P2D7	DYH1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	47	7466	+			2402			AAA 3 (By similarity).		B0I1R6|O00436|O15435|O95491|Q6ZU48|Q86YK7|Q8TEJ4|Q92863|Q9H8E6|Q9UFW6|Q9Y4Z7	Frame_Shift_Del	DEL	ENST00000420323.2	37	c.7205delC	CCDS46842.1																																																																																				0.627	DNAH1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350816.1	NM_015512		11	187						11	187	---	---	---	---	-	52412624	C	-	52412624	7	5	286	1	0	1	0	1	0	0	0	0	4597	739	26	0	7387	0	DNAH1	3	52412624	Frame_Shift_Del	DEL	C	TCGA-J9-A52C-01A-11D-A26M-08	515466	52412624	145609806	142	13272											
C3orf63	285331	broad.mit.edu	37	chr3	56658551	56658551	+	IGR	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tagcaccaagctgtggaaggTtttcttctgtgattgaattg	9	15	11	6	0	2	2	0	2	2	0	2	3	2	3	1	2	2	3	1	2	4	6			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr3:56658551T>C	ENST00000394672.3	+	0	3096				FAM208A_ENST00000493960.2_Missense_Mutation_p.N1480S|FAM208A_ENST00000355628.5_Missense_Mutation_p.N1419S|FAM208A_ENST00000485156.1_5'UTR|FAM208A_ENST00000431842.2_Missense_Mutation_p.N1043S	NM_001012506.4|NM_001141947.1	NP_001012524.4|NP_001135419.1	A2RUB6	CCD66_HUMAN	coiled-coil domain containing 66						post-embryonic retina morphogenesis in camera-type eye (GO:0060060)|retinal rod cell development (GO:0046548)					breast(1)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(2)|urinary_tract(1)	12				KIRC - Kidney renal clear cell carcinoma(284;0.0478)|Kidney(284;0.0597)|OV - Ovarian serous cystadenocarcinoma(275;0.233)		CTGTGGAAGGTTTTCTTCTGT	0.378																																						ENST00000431842.2																			0				NS(1)|breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(11)|prostate(3)|skin(1)	32						c.(3127-3129)aAc>aGc		family with sequence similarity 208, member A							145	138	141					3																	56658551		2203	4300	6503	SO:0001628	intergenic_variant	23272							g.chr3:56658551T>C	AL832692	CCDS33770.2, CCDS46852.1	3p14.3	2006-03-27			ENSG00000180376	ENSG00000180376			27709	protein-coding gene	gene with protein product						14702039	Standard	NR_024460		Approved	DKFZp686C0433	uc003dhz.3	A2RUB6	OTTHUMG00000155748		3.37:g.56658551T>C						FAM208A_ENST00000355628.5_Missense_Mutation_p.N1419S|FAM208A_ENST00000485156.1_5'UTR|FAM208A_ENST00000493960.2_Missense_Mutation_p.N1480S	p.N1043S	NM_015224.3	NP_056039.2	Q9UK61	CC063_HUMAN			16	4052	-			1480					B3KWL8|Q4VC34|Q8N949	Missense_Mutation	SNP	ENST00000394672.3	37	c.3128A>G	CCDS46852.1	.	.	.	.	.	.	.	.	.	.	T	0.521	-0.862147	0.02610	.	.	ENSG00000163946	ENST00000431842;ENST00000493960;ENST00000355628	T;T;T	0.12039	2.72;2.92;2.9	5.43	-0.0178	0.13967	.	0.595417	0.17524	N	0.171111	T	0.05731	0.0150	N	0.08118	0	0.20489	N	0.999894	B;B;B;B	0.12630	0.003;0.006;0.003;0.004	B;B;B;B	0.12156	0.004;0.004;0.007;0.004	T	0.36016	-0.9765	10	0.31617	T	0.26	0.0306	6.378	0.21519	0.0:0.1301:0.2705:0.5994	.	1480;1419;1043;1480	Q9UK61-3;Q9UK61-4;Q9UK61-2;Q9UK61	.;.;.;F208A_HUMAN	S	1043;1480;1419	ENSP00000399410:N1043S;ENSP00000417509:N1480S;ENSP00000347845:N1419S	ENSP00000347845:N1419S	N	-	2	0	C3orf63	56633591	1.000000	0.71417	0.435000	0.26784	0.219000	0.24729	0.838000	0.27572	-0.228000	0.09869	0.459000	0.35465	AAC		0.378	CCDC66-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341473.1	NM_001012506		10	67	0	0	0	1	0	10	67					C	56658551	T	C	56658551	1	2	286	0	1	0	0	0	0	0	0	0	2239	1725	60	4		4	C3orf63	3	56658551	IGR	SNP	T	TCGA-J9-A52C-01A-11D-A26M-08	4245927	56658551	141363879	143	13273											
PDE12	201626	broad.mit.edu	37	chr3	57545300	57545300	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tattcataggtgggtatattCgcctcattcaaatggcagta	11	14	9	7	1	3	0	3	0	0	0	4	0	3	0	1	3	0	3	1	3	6	8			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr3:57545300C>T	ENST00000311180.8	+	3	1502	c.1399C>T	c.(1399-1401)Cgc>Tgc	p.R467C	PDE12_ENST00000487257.1_3'UTR	NM_177966.5	NP_808881.3	Q6L8Q7	PDE12_HUMAN	phosphodiesterase 12	467					mRNA processing (GO:0006397)	mitochondrion (GO:0005739)	metal ion binding (GO:0046872)|poly(A)-specific ribonuclease activity (GO:0004535)			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|liver(4)|lung(3)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	20				KIRC - Kidney renal clear cell carcinoma(284;0.011)|Kidney(284;0.0127)		TGGGTATATTCGCCTCATTCA	0.328																																					Colon(125;308 1634 19198 50622 50717)	ENST00000311180.8																			0				breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|liver(4)|lung(3)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	20						c.(1399-1401)Cgc>Tgc		phosphodiesterase 12							65	66	66					3																	57545300		2203	4300	6503	SO:0001583	missense	201626						hydrolase activity	g.chr3:57545300C>T	AK074423	CCDS33772.1	3p14.3	2013-10-11			ENSG00000174840	ENSG00000174840			25386	protein-coding gene	gene with protein product	"2'-phosphodiesterase"					15231837	Standard	NM_177966		Approved	DKFZp667B1218, 2'-PDE	uc003diw.4	Q6L8Q7	OTTHUMG00000158599	ENST00000311180.8:c.1399C>T	3.37:g.57545300C>T	ENSP00000309142:p.Arg467Cys					PDE12_ENST00000487257.1_3'UTR	p.R467C	NM_177966.5	NP_808881.3	Q6L8Q7	PDE12_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.011)|Kidney(284;0.0127)	3	1502	+			467					B4DTU8|Q8IYU3|Q8NDU2|Q8TE78	Missense_Mutation	SNP	ENST00000311180.8	37	c.1399C>T	CCDS33772.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.180484	0.78677	.	.	ENSG00000174840	ENST00000311180	D	0.98807	-5.15	5.95	5.08	0.68730	Endonuclease/exonuclease/phosphatase (2);	0.045173	0.85682	D	0.000000	D	0.99363	0.9776	H	0.94183	3.505	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98565	1.0643	10	0.87932	D	0	-15.1408	15.1414	0.72612	0.0:0.9325:0.0:0.0675	.	467	Q6L8Q7	PDE12_HUMAN	C	467	ENSP00000309142:R467C	ENSP00000309142:R467C	R	+	1	0	PDE12	57520340	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	7.407000	0.80029	1.529000	0.49120	-0.253000	0.11424	CGC		0.328	PDE12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351440.2	NM_177966		12	25	0	0	0	1	0	12	25					T	57545300	C	T	57545300	3	4	286	1	0	0	0	0	1	0	0	0	11632	884	31	2	1409	2	PDE12	3	57545300	Missense_Mutation	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	886749	57545300	140477130	144	13274											
PDZRN3	23024	broad.mit.edu	37	chr3	73432601	73432601	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggttaagagttcttggatcGtcatccagttatcgaagatt	10	14	11	6	2	2	2	1	0	1	2	5	4	3	3	1	2	0	3	1	2	3	5			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr3:73432601G>A	ENST00000263666.4	-	10	3230	c.3116C>T	c.(3115-3117)aCg>aTg	p.T1039M	PDZRN3_ENST00000535920.1_Missense_Mutation_p.T761M|PDZRN3_ENST00000462146.2_Missense_Mutation_p.T696M|PDZRN3_ENST00000466348.1_5'Flank|PDZRN3_ENST00000466780.1_Missense_Mutation_p.T696M|PDZRN3_ENST00000479530.1_Missense_Mutation_p.T756M	NM_015009.1	NP_055824.1	Q9UPQ7	PZRN3_HUMAN	PDZ domain containing ring finger 3	1039					neuromuscular junction development (GO:0007528)|protein ubiquitination (GO:0016567)	neuromuscular junction (GO:0031594)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)		TTCTTGGATCGTCATCCAGTT	0.433																																						ENST00000263666.4																			0				breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69						c.(3115-3117)aCg>aTg		PDZ domain containing ring finger 3							236	246	243					3																	73432601		2203	4300	6503	SO:0001583	missense	23024						ubiquitin-protein ligase activity|zinc ion binding	g.chr3:73432601G>A	AB029018	CCDS33789.1	3p14.1	2013-01-09	2008-08-14		ENSG00000121440	ENSG00000121440		"RING-type (C3HC4) zinc fingers"	17704	protein-coding gene	gene with protein product	"likely ortholog of mouse semaF cytoplasmic domain associated protein 3"	609729				10470851	Standard	XM_005264718		Approved	KIAA1095, SEMACAP3, LNX3	uc003dpl.1	Q9UPQ7	OTTHUMG00000158865	ENST00000263666.4:c.3116C>T	3.37:g.73432601G>A	ENSP00000263666:p.Thr1039Met					PDZRN3_ENST00000462146.2_Missense_Mutation_p.T696M|PDZRN3_ENST00000479530.1_Missense_Mutation_p.T756M|PDZRN3_ENST00000466780.1_Missense_Mutation_p.T696M|PDZRN3_ENST00000535920.1_Missense_Mutation_p.T761M	p.T1039M	NM_015009.1	NP_055824.1	Q9UPQ7	PZRN3_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)	10	3230	-		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)	1039					A7MCZ6|Q8N2N7|Q96CC2|Q9NSQ2	Missense_Mutation	SNP	ENST00000263666.4	37	c.3116C>T	CCDS33789.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.21|15.21	2.765645|2.765645	0.49574|0.49574	.|.	.|.	ENSG00000121440|ENSG00000121440	ENST00000494559|ENST00000263666;ENST00000535920;ENST00000462146;ENST00000466780;ENST00000479530	.|T;T;T;T;T	.|0.46063	.|0.88;0.88;0.88;0.88;0.88	5.66|5.66	5.66|5.66	0.87406|0.87406	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	.|T	.|0.68915	.|0.3053	M|M	0.80982|0.80982	2.52|2.52	0.80722|0.80722	D|D	1|1	.|D;D;D;D	.|0.89917	.|1.0;1.0;1.0;1.0	.|D;D;D;D	.|0.97110	.|1.0;0.998;0.999;0.997	.|T	.|0.72246	.|-0.4349	.|10	.|0.87932	.|D	.|0	.|.	19.3333|19.3333	0.94303|0.94303	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|761;756;756;1039	.|F5H8I9;B7ZAG0;B7Z5X9;Q9UPQ7	.|.;.;.;PZRN3_HUMAN	X|M	355|1039;761;696;696;756	.|ENSP00000263666:T1039M;ENSP00000442026:T761M;ENSP00000418168:T696M;ENSP00000418484:T696M;ENSP00000418624:T756M	.|ENSP00000263666:T1039M	R|T	-|-	1|2	2|0	PDZRN3|PDZRN3	73515291|73515291	1.000000|1.000000	0.71417|0.71417	0.967000|0.967000	0.41034|0.41034	0.232000|0.232000	0.25224|0.25224	9.572000|9.572000	0.98179|0.98179	2.659000|2.659000	0.90383|0.90383	0.655000|0.655000	0.94253|0.94253	CGA|ACG		0.433	PDZRN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352460.1	XM_041363		27	139	0	0	0	1	0	27	139					A	73432601	G	A	73432601	3	1	286	1	0	0	0	0	1	0	0	0	11709	1145	40	1	88	1	PDZRN3	3	73432601	Missense_Mutation	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	15887301	73432601	124589829	145	13275											
PDZRN3	23024	broad.mit.edu	37	chr3	73433350	73433350	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cccacagccccttcgctgctCgggcagctgatgccctccgc	4	7	10	20	3	0	1	0	1	0	0	3	1	1	1	5	1	4	4	5	1	0	1	rs200099704		TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr3:73433350C>T	ENST00000263666.4	-	10	2481	c.2367G>A	c.(2365-2367)ccG>ccA	p.P789P	PDZRN3_ENST00000535920.1_Silent_p.P511P|PDZRN3_ENST00000462146.2_Silent_p.P446P|PDZRN3_ENST00000466348.1_5'Flank|PDZRN3_ENST00000466780.1_Silent_p.P446P|PDZRN3_ENST00000479530.1_Silent_p.P506P	NM_015009.1	NP_055824.1	Q9UPQ7	PZRN3_HUMAN	PDZ domain containing ring finger 3	789					neuromuscular junction development (GO:0007528)|protein ubiquitination (GO:0016567)	neuromuscular junction (GO:0031594)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)		CTTCGCTGCTCGGGCAGCTGA	0.647																																						ENST00000263666.4																			0				breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69						c.(2365-2367)ccG>ccA		PDZ domain containing ring finger 3							37	41	40					3																	73433350		2203	4300	6503	SO:0001819	synonymous_variant	23024						ubiquitin-protein ligase activity|zinc ion binding	g.chr3:73433350C>T	AB029018	CCDS33789.1	3p14.1	2013-01-09	2008-08-14		ENSG00000121440	ENSG00000121440		"RING-type (C3HC4) zinc fingers"	17704	protein-coding gene	gene with protein product	"likely ortholog of mouse semaF cytoplasmic domain associated protein 3"	609729				10470851	Standard	XM_005264718		Approved	KIAA1095, SEMACAP3, LNX3	uc003dpl.1	Q9UPQ7	OTTHUMG00000158865	ENST00000263666.4:c.2367G>A	3.37:g.73433350C>T						PDZRN3_ENST00000462146.2_Silent_p.P446P|PDZRN3_ENST00000479530.1_Silent_p.P506P|PDZRN3_ENST00000466780.1_Silent_p.P446P|PDZRN3_ENST00000535920.1_Silent_p.P511P	p.P789P	NM_015009.1	NP_055824.1	Q9UPQ7	PZRN3_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)	10	2481	-		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)	789					A7MCZ6|Q8N2N7|Q96CC2|Q9NSQ2	Silent	SNP	ENST00000263666.4	37	c.2367G>A	CCDS33789.1																																																																																				0.647	PDZRN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352460.1	XM_041363		10	47	0	0	0	1	0	10	47					T	73433350	C	T	73433350	2	4	286	1	0	0	0	0	0	0	0	1	11709	871	31	2		2	PDZRN3	3	73433350	Silent	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	749	73433350	124589080	146	13276											
PROS1	5627	broad.mit.edu	37	chr3	93624977	93624977	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	catggcagaggactacactgGtctggaatggctgaaggaaa	13	7	14	7	0	1	2	0	1	1	1	1	5	1	5	0	6	1	2	0	6	4	1			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr3:93624977G>A	ENST00000394236.3	-	5	673	c.357C>T	c.(355-357)gaC>gaT	p.D119D	PROS1_ENST00000407433.1_5'UTR	NM_000313.3	NP_000304.2	P07225	PROS_HUMAN	protein S (alpha)	119	EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00076}.				blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|fibrinolysis (GO:0042730)|innate immune response (GO:0045087)|leukocyte migration (GO:0050900)|negative regulation of endopeptidase activity (GO:0010951)|peptidyl-glutamic acid carboxylation (GO:0017187)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|post-translational protein modification (GO:0043687)|proteolysis (GO:0006508)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|Golgi membrane (GO:0000139)|platelet alpha granule lumen (GO:0031093)	calcium ion binding (GO:0005509)|endopeptidase inhibitor activity (GO:0004866)			endometrium(3)|kidney(5)|large_intestine(8)|lung(26)|ovary(1)|skin(2)|urinary_tract(1)	46					Drotrecogin alfa(DB00055)|Menadione(DB00170)|Sodium Tetradecyl Sulfate(DB00464)	GACTACACTGGTCTGGAATGG	0.358																																						ENST00000394236.3																			0				endometrium(3)|kidney(5)|large_intestine(8)|lung(26)|ovary(1)|skin(2)|urinary_tract(1)	46						c.(355-357)gaC>gaT		protein S (alpha)	Antihemophilic Factor(DB00025)|Drotrecogin alfa(DB00055)|Menadione(DB00170)						102	105	104					3																	93624977		2203	4300	6503	SO:0001819	synonymous_variant	5627				leukocyte migration|peptidyl-glutamic acid carboxylation|platelet activation|platelet degranulation|post-translational protein modification|proteolysis	endoplasmic reticulum membrane|extracellular region|Golgi lumen|Golgi membrane|platelet alpha granule lumen	calcium ion binding|endopeptidase inhibitor activity	g.chr3:93624977G>A		CCDS2923.1	3q11.1	2013-06-03			ENSG00000184500	ENSG00000184500			9456	protein-coding gene	gene with protein product		176880		PROS		214811, 1833851	Standard	NM_000313		Approved		uc003drb.4	P07225	OTTHUMG00000150354	ENST00000394236.3:c.357C>T	3.37:g.93624977G>A						PROS1_ENST00000407433.1_5'UTR	p.D119D	NM_000313.3	NP_000304.2	P07225	PROS_HUMAN			5	673	-			119			EGF-like 1.		A8KAC9|D3DN28|Q15518|Q7Z715|Q9UCZ8	Silent	SNP	ENST00000394236.3	37	c.357C>T	CCDS2923.1																																																																																				0.358	PROS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317762.1	NM_000313		12	68	0	0	0	1	0	12	68					A	93624977	G	A	93624977	2	1	286	1	0	0	0	0	0	0	0	1	12558	1252	44	3		3	PROS1	3	93624977	Silent	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	20191627	93624977	104397453	147	13277											
NR1I2	8856	broad.mit.edu	37	chr3	119536021	119536021	+	Frame_Shift_Del	DEL	C	C	-																															acatacacccctttgctacgCccctcatgcaggagttgttc																										TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr3:119536021delC	ENST00000337940.4	+	9	1432	c.1384delC	c.(1384-1386)cccfs	p.P462fs	NR1I2_ENST00000466380.1_Frame_Shift_Del_p.P386fs|NR1I2_ENST00000393716.2_Frame_Shift_Del_p.P423fs	NM_022002.2	NP_071285.1	O75469	NR1I2_HUMAN	nuclear receptor subfamily 1, group I, member 2	423					drug export (GO:0046618)|exogenous drug catabolic process (GO:0042738)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|signal transduction (GO:0007165)|steroid metabolic process (GO:0008202)|transcription initiation from RNA polymerase II promoter (GO:0006367)|xenobiotic metabolic process (GO:0006805)|xenobiotic transport (GO:0042908)	nucleoplasm (GO:0005654)	drug binding (GO:0008144)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|steroid hormone receptor activity (GO:0003707)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(2)|prostate(2)|skin(3)	23				GBM - Glioblastoma multiforme(114;0.175)	Docetaxel(DB01248)|Erlotinib(DB00530)|Estradiol(DB00783)|Ethinyl Estradiol(DB00977)|Paclitaxel(DB01229)|Rifampicin(DB01045)|Rifaximin(DB01220)|Rilpivirine(DB08864)|Vitamin E(DB00163)	CTTTGCTACGCCCCTCATGCA	0.617																																						ENST00000393716.2																			0				breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(2)|prostate(2)|skin(3)	23						c.(1267-1269)ccfs		nuclear receptor subfamily 1, group I, member 2	Estradiol(DB00783)|Ethinyl Estradiol(DB00977)|Rifampin(DB01045)|Vitamin E(DB00163)						97	93	95					3																	119536021		2203	4300	6503	SO:0001589	frameshift_variant	8856				drug export|exogenous drug catabolic process|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|steroid metabolic process|xenobiotic metabolic process|xenobiotic transport	nucleoplasm	drug binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription coactivator activity|zinc ion binding	g.chr3:119536021delC	AF061056	CCDS2995.1, CCDS43136.1, CCDS54627.1	3q12-q13.3	2013-03-25			ENSG00000144852	ENSG00000144852		"Nuclear hormone receptors"	7968	protein-coding gene	gene with protein product	"pregnane X receptor", "orphan nuclear receptor PXR"	603065				9727070, 9770465	Standard	NM_003889		Approved	ONR1, PXR, BXR, SXR, PAR2	uc003edk.3	O75469	OTTHUMG00000159400	ENST00000337940.4:c.1384delC	3.37:g.119536021delC	ENSP00000336528:p.Pro462fs					NR1I2_ENST00000466380.1_Frame_Shift_Del_p.P386fs|NR1I2_ENST00000337940.4_Frame_Shift_Del_p.P462fs	p.P423fs	NM_003889.3	NP_003880.3	O75469	NR1I2_HUMAN		GBM - Glioblastoma multiforme(114;0.175)	9	3106	+			423			Ligand-binding.		Q006P5|Q008C8|Q96AC7|Q9UJ22|Q9UJ23|Q9UJ24|Q9UJ25|Q9UJ26|Q9UJ27|Q9UNW4	Frame_Shift_Del	DEL	ENST00000337940.4	37	c.1267delC	CCDS2995.1																																																																																				0.617	NR1I2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355126.1			22	95						22	95	---	---	---	---	-	119536021	C	-	119536021	7	5	286	1	0	1	0	1	0	0	0	0	10620	739	26	0	1418	0	NR1I2	3	119536021	Frame_Shift_Del	DEL	C	TCGA-J9-A52C-01A-11D-A26M-08	25911044	119536021	78486409	148	13278											
KPNA1	3836	broad.mit.edu	37	chr3	122160929	122160929	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gacaatgtttcccacagctcGcaaagcaggagaaaccactt	14	7	8	12	1	0	1	0	0	0	1	2	3	1	1	2	1	3	4	2	1	3	2			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr3:122160929G>A	ENST00000344337.6	-	10	1128	c.952C>T	c.(952-954)Cga>Tga	p.R318*	RP11-299J3.8_ENST00000609469.1_RNA|KPNA1_ENST00000466923.1_5'UTR	NM_002264.3	NP_002255.3	P52294	IMA5_HUMAN	karyopherin alpha 1 (importin alpha 5)	318	Binding to RAG1.|NLS binding site (minor). {ECO:0000250}.				apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cytokine-mediated signaling pathway (GO:0019221)|intracellular transport of virus (GO:0075733)|NLS-bearing protein import into nucleus (GO:0006607)|positive regulation of protein import into nucleus (GO:0042307)|regulation of DNA recombination (GO:0000018)|viral life cycle (GO:0019058)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|nuclear pore (GO:0005643)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nuclear localization sequence binding (GO:0008139)|protein transporter activity (GO:0008565)			NS(1)|breast(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	21				GBM - Glioblastoma multiforme(114;0.0898)		CCCACAGCTCGCAAAGCAGGA	0.353																																					Melanoma(12;340 801 11196 19797)	ENST00000344337.6																			0				NS(1)|breast(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	21						c.(952-954)Cga>Tga		karyopherin alpha 1 (importin alpha 5)							176	182	180					3																	122160929		2203	4300	6503	SO:0001587	stop_gained	3836				DNA fragmentation involved in apoptotic nuclear change|NLS-bearing substrate import into nucleus|regulation of DNA recombination|viral genome transport in host cell|viral infectious cycle	cytosol|nuclear pore|nucleoplasm	nuclear localization sequence binding|protein binding|protein transporter activity	g.chr3:122160929G>A	S75295	CCDS3013.1	3q21	2013-02-14			ENSG00000114030	ENSG00000114030		"Importins", "Armadillo repeat containing"	6394	protein-coding gene	gene with protein product		600686				8052633	Standard	NM_002264		Approved	SRP1, RCH2, NPI-1, IPOA5	uc003efe.2	P52294	OTTHUMG00000159487	ENST00000344337.6:c.952C>T	3.37:g.122160929G>A	ENSP00000343701:p.Arg318*					KPNA1_ENST00000466923.1_5'UTR	p.R318*	NM_002264.3	NP_002255.3	P52294	IMA1_HUMAN		GBM - Glioblastoma multiforme(114;0.0898)	10	1128	-			318			Binding to RAG1.|NLS binding site (minor) (By similarity).		D3DN93|Q6IBQ9|Q9BQ56	Nonsense_Mutation	SNP	ENST00000344337.6	37	c.952C>T	CCDS3013.1	.	.	.	.	.	.	.	.	.	.	G	35	5.431897	0.96150	.	.	ENSG00000114030	ENST00000344337;ENST00000465882	.	.	.	5.17	5.17	0.71159	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-14.7106	17.8521	0.88750	0.0:0.0:1.0:0.0	.	.	.	.	X	318	.	ENSP00000343701:R318X	R	-	1	2	KPNA1	123643619	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.344000	0.59354	2.692000	0.91855	0.655000	0.94253	CGA		0.353	KPNA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355740.1	NM_002264		13	111	0	0	0	1	0	13	111					A	122160929	G	A	122160929	4	1	286	1	0	0	0	0	0	1	0	0	8429	1095	38	1	684	1	KPNA1	3	122160929	Nonsense_Mutation	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	2624908	122160929	75861501	149	13279											
PARP15	165631	broad.mit.edu	37	chr3	122340432	122340432	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgaacagaggaagtacacatCggtttcccttccagccattg	11	10	9	11	1	0	2	0	1	0	1	3	3	2	3	3	2	3	2	3	2	3	4			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr3:122340432C>T	ENST00000464300.2	+	8	1271	c.1205C>T	c.(1204-1206)tCg>tTg	p.S402L	PARP15_ENST00000310366.4_Missense_Mutation_p.S168L|PARP15_ENST00000493645.1_Missense_Mutation_p.S168L|PARP15_ENST00000465304.1_3'UTR|PARP15_ENST00000483793.1_Missense_Mutation_p.S276L	NM_001113523.1	NP_001106995.1	Q460N3	PAR15_HUMAN	poly (ADP-ribose) polymerase family, member 15	402	Macro 2. {ECO:0000255|PROSITE- ProRule:PRU00490}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	NAD+ ADP-ribosyltransferase activity (GO:0003950)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	24				GBM - Glioblastoma multiforme(114;0.0531)		AAGTACACATCGGTTTCCCTT	0.383																																						ENST00000483793.1																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	24						c.(826-828)tCg>tTg		poly (ADP-ribose) polymerase family, member 15							133	118	123					3																	122340432		2203	4300	6503	SO:0001583	missense	165631				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	NAD+ ADP-ribosyltransferase activity	g.chr3:122340432C>T	AK097916	CCDS3016.1, CCDS46893.1	3q21	2010-02-16			ENSG00000173200	ENSG00000173200		"Poly (ADP-ribose) polymerases"	26876	protein-coding gene	gene with protein product		612066				15273990	Standard	NM_001113523		Approved	FLJ40597, pART7	uc003efm.2	Q460N3	OTTHUMG00000159523	ENST00000464300.2:c.1205C>T	3.37:g.122340432C>T	ENSP00000417214:p.Ser402Leu					PARP15_ENST00000465304.1_3'UTR|PARP15_ENST00000493645.1_Missense_Mutation_p.S168L|PARP15_ENST00000464300.2_Missense_Mutation_p.S402L|PARP15_ENST00000310366.4_Missense_Mutation_p.S168L	p.S276L			Q460N3	PAR15_HUMAN		GBM - Glioblastoma multiforme(114;0.0531)	6	867	+			444			Macro 2.		J3KR47|Q8N1K3	Missense_Mutation	SNP	ENST00000464300.2	37	c.827C>T	CCDS46893.1	.	.	.	.	.	.	.	.	.	.	C	19.82	3.898479	0.72639	.	.	ENSG00000173200	ENST00000464300;ENST00000483793;ENST00000542823;ENST00000310366;ENST00000493645	T;T;T;T	0.34859	1.34;1.69;1.34;1.34	3.98	3.98	0.46160	Appr-1-p processing (3);	0.573015	0.13319	N	0.396807	T	0.71719	0.3373	H	0.96239	3.79	0.18873	N	0.999987	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;0.976	D;D;D;D;P	0.91635	0.993;0.998;0.999;0.999;0.503	T	0.66114	-0.6004	10	0.87932	D	0	.	13.9217	0.63935	0.0:1.0:0.0:0.0	.	168;168;149;276;380	B7ZL48;Q460N3-2;F5H8I1;C9J7L3;Q460N3	.;.;.;.;PAR15_HUMAN	L	402;276;149;168;168	ENSP00000417214:S402L;ENSP00000417785:S276L;ENSP00000308436:S168L;ENSP00000419488:S168L	ENSP00000308436:S168L	S	+	2	0	PARP15	123823122	0.731000	0.28111	0.049000	0.19019	0.326000	0.28443	4.649000	0.61433	2.224000	0.72417	0.655000	0.94253	TCG		0.383	PARP15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355964.2	NM_152615		11	81	0	0	0	1	0	11	81					T	122340432	C	T	122340432	3	4	286	1	0	0	0	0	1	0	0	0	11459	893	31	2	1304	2	PARP15	3	122340432	Missense_Mutation	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	179503	122340432	75681998	150	13280											
SEMA5B	54437	broad.mit.edu	37	chr3	122646834	122646834	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cattgatcttctcaatagtcCggctgaggttccccacctgg	7	12	9	13	1	2	2	1	2	2	0	5	2	4	2	4	3	0	2	4	3	2	4	rs201401928		TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr3:122646834C>T	ENST00000357599.3	-	8	1039	c.653G>A	c.(652-654)cGg>cAg	p.R218Q	SEMA5B_ENST00000195173.4_Missense_Mutation_p.R218Q|AC078794.1_ENST00000408284.1_RNA|SEMA5B_ENST00000451055.2_Missense_Mutation_p.R272Q	NM_001031702.3|NM_001256348.1	NP_001026872.2|NP_001243277.1	Q9P283	SEM5B_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B	218	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)	integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(13)|lung(26)|ovary(2)|pancreas(3)|skin(2)|upper_aerodigestive_tract(3)	55				GBM - Glioblastoma multiforme(114;0.0367)		CTCAATAGTCCGGCTGAGGTT	0.587																																						ENST00000195173.4																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(13)|lung(26)|ovary(2)|pancreas(3)|skin(2)|upper_aerodigestive_tract(3)	55						c.(652-654)cGg>cAg		sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B			GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	71	70	70		653	4.8	1	3		70	0,8600		0,0,4300	no	missense	SEMA5B	NM_001031702.2	43	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign	218/1152	122646834	1,13005	2203	4300	6503	SO:0001583	missense	54437				cell differentiation|nervous system development	integral to membrane	receptor activity	g.chr3:122646834C>T	AB040878	CCDS35491.1, CCDS58848.1, CCDS74995.1	3q21.1	2008-07-18			ENSG00000082684	ENSG00000082684		"Semaphorins"	10737	protein-coding gene	gene with protein product		609298		SEMAG		8817451	Standard	NM_001256346		Approved	SemG, KIAA1445, FLJ10372	uc031sbm.1	Q9P283	OTTHUMG00000140392	ENST00000357599.3:c.653G>A	3.37:g.122646834C>T	ENSP00000350215:p.Arg218Gln					SEMA5B_ENST00000357599.3_Missense_Mutation_p.R218Q|SEMA5B_ENST00000451055.2_Missense_Mutation_p.R272Q	p.R218Q			Q9P283	SEM5B_HUMAN		GBM - Glioblastoma multiforme(114;0.0367)	8	956	-			218			Sema.		A8K5U2|B7Z393|F8W9U8|Q6DD89|Q6UY12|Q9NW17	Missense_Mutation	SNP	ENST00000357599.3	37	c.653G>A	CCDS35491.1	.	.	.	.	.	.	.	.	.	.	c	12.29	1.893024	0.33442	2.27E-4	0.0	ENSG00000082684	ENST00000357599;ENST00000195173;ENST00000418793;ENST00000451055;ENST00000393583	T;T;T;T	0.10382	2.88;2.88;2.88;2.88	5.64	4.77	0.60923	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.056020	0.64402	D	0.000003	T	0.06280	0.0162	N	0.13043	0.29	0.32935	D	0.517572	B;B;B	0.17268	0.021;0.003;0.003	B;B;B	0.12156	0.004;0.007;0.007	T	0.12630	-1.0540	10	0.31617	T	0.26	.	8.1556	0.31167	0.0:0.8204:0.0:0.1796	.	160;218;218	D3YTI7;B5ME80;Q9P283	.;.;SEM5B_HUMAN	Q	218;218;160;272;218	ENSP00000350215:R218Q;ENSP00000195173:R218Q;ENSP00000389588:R272Q;ENSP00000377208:R218Q	ENSP00000195173:R218Q	R	-	2	0	SEMA5B	124129524	0.987000	0.35691	0.995000	0.50966	0.763000	0.43281	1.368000	0.34216	1.628000	0.50416	0.651000	0.88453	CGG		0.587	SEMA5B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000277165.1	NM_001031702		6	41	0	0	0	1	0	6	41					T	122646834	C	T	122646834	3	4	286	1	0	0	0	0	1	0	0	0	14038	652	23	2	2866	2	SEMA5B	3	122646834	Missense_Mutation	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	306402	122646834	75375596	151	13281											
MYLK	4638	broad.mit.edu	37	chr3	123426765	123426765	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaggggtcaccagctatggcGcaggagatgaggacactctg	11	6	15	9	1	2	2	1	1	1	1	2	4	2	3	1	5	1	2	1	5	2	1			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr3:123426765G>A	ENST00000475616.1	-	13	2225	c.2226C>T	c.(2224-2226)tgC>tgT	p.C742C	MYLK_ENST00000360304.3_Silent_p.C742C|MYLK_ENST00000346322.5_Silent_p.C673C|MYLK_ENST00000360772.3_Silent_p.C742C|MYLK_ENST00000359169.1_Silent_p.C742C			Q15746	MYLK_HUMAN	myosin light chain kinase	742	Ig-like C2-type 6.				actin filament organization (GO:0007015)|aorta smooth muscle tissue morphogenesis (GO:0060414)|bleb assembly (GO:0032060)|cellular hypotonic response (GO:0071476)|muscle contraction (GO:0006936)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cell migration (GO:0030335)|positive regulation of wound healing (GO:0090303)|protein phosphorylation (GO:0006468)|smooth muscle contraction (GO:0006939)|tonic smooth muscle contraction (GO:0014820)	cell-cell junction (GO:0005911)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|metal ion binding (GO:0046872)|myosin light chain kinase activity (GO:0004687)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		CAGCTATGGCGCAGGAGATGA	0.577																																						ENST00000360772.3																			0				NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113						c.(2224-2226)tgC>tgT		myosin light chain kinase							58	50	53					3																	123426765		2203	4299	6502	SO:0001819	synonymous_variant	4638				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity	g.chr3:123426765G>A	X85337	CCDS3023.1, CCDS43141.1, CCDS46896.1, CCDS46897.1, CCDS58849.1	3q21	2013-02-11	2008-01-23		ENSG00000065534	ENSG00000065534	2.7.11.18	"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	7590	protein-coding gene	gene with protein product	"smooth muscle myosin light chain kinase"	600922	"myosin, light polypeptide kinase"			8575746	Standard	NM_053026		Approved	MLCK, smMLCK, MYLK1, MLCK1	uc003ego.3	Q15746	OTTHUMG00000141304	ENST00000475616.1:c.2226C>T	3.37:g.123426765G>A						MYLK_ENST00000475616.1_Silent_p.C742C|MYLK_ENST00000360304.3_Silent_p.C742C|MYLK_ENST00000359169.1_Silent_p.C742C|MYLK_ENST00000346322.5_Silent_p.C673C	p.C742C			Q15746	MYLK_HUMAN		GBM - Glioblastoma multiforme(114;0.0736)	17	2604	-		Lung NSC(201;0.0496)	742			Ig-like C2-type 6.		B4DUE3|D3DN97|O95796|O95797|O95798|O95799|Q14844|Q16794|Q17S15|Q3ZCP9|Q5MY99|Q5MYA0|Q6P2N0|Q7Z4J0|Q9C0L5|Q9UBG5|Q9UBY6|Q9UIT9	Silent	SNP	ENST00000475616.1	37	c.2226C>T	CCDS46896.1																																																																																				0.577	MYLK-004	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356464.1	NM_053025		9	30	0	0	0	1	0	9	30					A	123426765	G	A	123426765	2	1	286	1	0	0	0	0	0	0	0	1	10056	1079	38	1		1	MYLK	3	123426765	Silent	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	779931	123426765	74595665	152	13282											
KALRN	8997	broad.mit.edu	37	chr3	124132334	124132334	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggtgacagcagagctagaCgcctggaatgaagacttgct	12	7	13	9	1	0	5	0	2	0	3	0	6	0	6	1	2	3	3	1	2	3	2	rs149412677		TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr3:124132334C>T	ENST00000240874.3	+	14	2515	c.2358C>T	c.(2356-2358)gaC>gaT	p.D786D	KALRN_ENST00000360013.3_Silent_p.D786D|KALRN_ENST00000460856.1_Silent_p.D786D	NM_003947.4	NP_003938.1	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	786					apoptotic signaling pathway (GO:0097190)|intracellular signal transduction (GO:0035556)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|protein phosphorylation (GO:0006468)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						CAGAGCTAGACGCCTGGAATG	0.532																																						ENST00000360013.3																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						c.(2356-2358)gaC>gaT		kalirin, RhoGEF kinase		C	,	1,4405	2.1+/-5.4	0,1,2202	64	56	59		2358,2358	-1.5	1	3	dbSNP_134	59	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	KALRN	NM_001024660.3,NM_003947.4	,	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	,	786/2987,786/1664	124132334	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	8997				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity	g.chr3:124132334C>T	U94190	CCDS3027.1, CCDS3028.1	3q21.2	2013-02-11	2005-03-11	2005-03-12	ENSG00000160145	ENSG00000160145		"Rho guanine nucleotide exchange factors", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	4814	protein-coding gene	gene with protein product	"serine/threonine kinase with Dbl and pleckstrin homology domains"	604605	"huntingtin-associated protein interacting protein (duo)"	HAPIP		9285789, 10023074	Standard	NM_001024660		Approved	duo, Hs.8004, TRAD, DUET, Kalirin, ARHGEF24	uc003ehd.3	O60229	OTTHUMG00000125545	ENST00000240874.3:c.2358C>T	3.37:g.124132334C>T						KALRN_ENST00000240874.3_Silent_p.D786D|KALRN_ENST00000460856.1_Silent_p.D786D	p.D786D	NM_001024660.3	NP_001019831.2	O60229	KALRN_HUMAN			14	2485	+			786					A8MSI4|C9JQ37|Q6ZN45|Q8TBQ5|Q9NSZ4|Q9Y2A5	Silent	SNP	ENST00000240874.3	37	c.2358C>T	CCDS3027.1	.	.	.	.	.	.	.	.	.	.	C	8.767	0.924969	0.18056	2.27E-4	1.16E-4	ENSG00000160145	ENST00000354186	.	.	.	5.65	-1.47	0.08772	.	.	.	.	.	T	0.57888	0.2084	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.54536	-0.8279	4	.	.	.	.	11.3843	0.49776	0.0:0.2588:0.0:0.7412	.	.	.	.	M	764	.	.	T	+	2	0	KALRN	125615024	0.683000	0.27633	0.989000	0.46669	0.983000	0.72400	-0.192000	0.09587	-0.299000	0.08909	-1.090000	0.02178	ACG		0.532	KALRN-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000258843.4	NM_003947		4	26	0	0	0	1	0	4	26					T	124132334	C	T	124132334	2	4	286	1	0	0	0	0	0	0	0	1	7975	535	19	1		1	KALRN	3	124132334	Silent	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	705569	124132334	73890096	153	13283											
NPHP3	27031	broad.mit.edu	37	chr3	132403474	132403474	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caggagctaatgcacgtctcCgaatatctaaagctctttca	12	11	7	11	2	4	0	1	0	3	0	5	2	4	1	1	1	3	3	1	1	5	4	rs138630766		TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr3:132403474C>T	ENST00000337331.5	-	24	3580	c.3494G>A	c.(3493-3495)cGg>cAg	p.R1165Q	NPHP3_ENST00000326682.8_3'UTR	NM_153240.4	NP_694972.3	Q7Z494	NPHP3_HUMAN	nephronophthisis 3 (adolescent)	1165					atrial septum development (GO:0003283)|cilium morphogenesis (GO:0060271)|convergent extension involved in gastrulation (GO:0060027)|determination of intestine left/right asymmetry (GO:0071908)|determination of left/right symmetry (GO:0007368)|determination of liver left/right asymmetry (GO:0071910)|determination of pancreatic left/right asymmetry (GO:0035469)|determination of stomach left/right asymmetry (GO:0071909)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|establishment or maintenance of cell polarity (GO:0007163)|extracellular matrix organization (GO:0030198)|heart looping (GO:0001947)|kidney development (GO:0001822)|kidney morphogenesis (GO:0060993)|lipid metabolic process (GO:0006629)|lung development (GO:0030324)|maintenance of organ identity (GO:0048496)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|photoreceptor cell maintenance (GO:0045494)|regulation of cAMP metabolic process (GO:0030814)|regulation of planar cell polarity pathway involved in neural tube closure (GO:2000167)|regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000095)|ureter development (GO:0072189)|Wnt signaling pathway (GO:0016055)	cilium (GO:0005929)|primary cilium (GO:0072372)				NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(15)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						TGCACGTCTCCGAATATCTAA	0.388																																						ENST00000337331.5																			0				NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(15)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						c.(3493-3495)cGg>cAg		nephronophthisis 3 (adolescent)		C	GLN/ARG	0,4406		0,0,2203	126	123	124		3494	5.8	1	3	dbSNP_134	124	1,8599	1.2+/-3.3	0,1,4299	yes	missense	NPHP3	NM_153240.4	43	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	1165/1331	132403474	1,13005	2203	4300	6503	SO:0001583	missense	27031				maintenance of organ identity|negative regulation of canonical Wnt receptor signaling pathway|photoreceptor cell maintenance|regulation of Wnt receptor signaling pathway, planar cell polarity pathway|Wnt receptor signaling pathway	cilium	protein binding	g.chr3:132403474C>T	AB056657	CCDS3078.1	3q22	2014-07-18			ENSG00000113971	ENSG00000113971		"Tetratricopeptide (TTC) repeat domain containing"	7907	protein-coding gene	gene with protein product	"nephrocystin-3", "Meckel syndrome, type 7", "cilia and flagella associated protein 31"	608002				12872122, 15381417	Standard	NM_153240		Approved	NPH3, KIAA2000, FLJ30691, FLJ36696, MKS7, SLSN3, CFAP31	uc003epe.2	Q7Z494	OTTHUMG00000159713	ENST00000337331.5:c.3494G>A	3.37:g.132403474C>T	ENSP00000338766:p.Arg1165Gln					NPHP3_ENST00000326682.8_3'UTR	p.R1165Q	NM_153240.4	NP_694972.3	Q7Z494	NPHP3_HUMAN			24	3580	-			1165					Q5JPE3|Q5JPE6|Q68D99|Q6NVH3|Q7Z492|Q7Z493|Q8N9R2|Q8NCM5|Q96N70|Q96NK2	Missense_Mutation	SNP	ENST00000337331.5	37	c.3494G>A	CCDS3078.1	.	.	.	.	.	.	.	.	.	.	C	32	5.152689	0.94645	0.0	1.16E-4	ENSG00000113971	ENST00000393144;ENST00000393156;ENST00000512094;ENST00000337331	T;T	0.75938	-0.03;-0.98	5.8	5.8	0.92144	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.85682	D	0.000000	D	0.83133	0.5188	L	0.45352	1.415	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.988;0.998	T	0.82388	-0.0482	10	0.51188	T	0.08	-15.9301	20.0545	0.97645	0.0:1.0:0.0:0.0	.	1165;47	Q7Z494;Q7Z491	NPHP3_HUMAN;.	Q	445;227;19;1165	ENSP00000427666:R19Q;ENSP00000338766:R1165Q	ENSP00000338766:R1165Q	R	-	2	0	NPHP3	133886164	1.000000	0.71417	1.000000	0.80357	0.775000	0.43874	7.818000	0.86416	2.748000	0.94277	0.655000	0.94253	CGG		0.388	NPHP3-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357020.2	NM_153240		3	29	0	0	0	1	0	3	29					T	132403474	C	T	132403474	3	4	286	1	0	0	0	0	1	0	0	0	10580	652	23	2	514	2	NPHP3	3	132403474	Missense_Mutation	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	8271140	132403474	65618956	154	13284											
SPSB4	92369	broad.mit.edu	37	chr3	140866040	140866040	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatccgctcggccctgggcCgccagcgcctgcaggacatc	5	5	12	19	4	0	0	0	0	0	0	3	1	1	1	6	3	2	2	6	3	0	0	rs200129730		TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr3:140866040C>T	ENST00000310546.2	+	3	1495	c.751C>T	c.(751-753)Cgc>Tgc	p.R251C	SPSB4_ENST00000507895.1_3'UTR	NM_080862.1	NP_543138.1	Q96A44	SPSB4_HUMAN	splA/ryanodine receptor domain and SOCS box containing 4	251	SOCS box. {ECO:0000255|PROSITE- ProRule:PRU00194}.				intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)				biliary_tract(1)|large_intestine(1)|lung(1)|pancreas(1)	4						GGCCCTGGGCCGCCAGCGCCT	0.617													C|||	1	0.000199681	0	0	5008	,	,		18021	0.001		0	False		,,,				2504	0					ENST00000310546.2																			0				biliary_tract(1)|large_intestine(1)|lung(1)|pancreas(1)	4						c.(751-753)Cgc>Tgc		splA/ryanodine receptor domain and SOCS box containing 4							51	51	51					3																	140866040		2203	4300	6503	SO:0001583	missense	92369				intracellular signal transduction	cytoplasm	protein binding	g.chr3:140866040C>T		CCDS3115.1	3q23	2008-02-05			ENSG00000175093	ENSG00000175093			30630	protein-coding gene	gene with protein product		611660				12076535	Standard	NM_080862		Approved	SSB-4	uc003ett.3	Q96A44	OTTHUMG00000160223	ENST00000310546.2:c.751C>T	3.37:g.140866040C>T	ENSP00000311609:p.Arg251Cys					SPSB4_ENST00000507895.1_3'UTR	p.R251C	NM_080862.1	NP_543138.1	Q96A44	SPSB4_HUMAN			3	1495	+			251			SOCS box.			Missense_Mutation	SNP	ENST00000310546.2	37	c.751C>T	CCDS3115.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	20.7	4.030160	0.75504	.	.	ENSG00000175093	ENST00000310546	T	0.48522	0.81	5.67	3.76	0.43208	SOCS protein, C-terminal (3);	0.000000	0.85682	D	0.000000	T	0.65729	0.2719	M	0.81497	2.545	0.58432	D	0.99999	D	0.76494	0.999	D	0.64877	0.93	T	0.69548	-0.5116	10	0.56958	D	0.05	-25.8085	11.4084	0.49911	0.4461:0.5539:0.0:0.0	.	251	Q96A44	SPSB4_HUMAN	C	251	ENSP00000311609:R251C	ENSP00000311609:R251C	R	+	1	0	SPSB4	142348730	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	1.386000	0.34419	1.373000	0.46208	0.561000	0.74099	CGC		0.617	SPSB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359727.1	NM_080862		7	29	0	0	0	1	0	7	29					T	140866040	C	T	140866040	3	4	286	1	0	0	0	0	1	0	0	0	15114	652	23	2	757	2	SPSB4	3	140866040	Missense_Mutation	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	8462566	140866040	57156390	155	13285											
ACPL2	92370	broad.mit.edu	37	chr3	141011689	141011689	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaccatcggccggatgcagcGtgccaccgagggcaggaaag	11	3	15	12	4	0	0	0	0	0	0	1	3	0	2	4	4	4	2	4	4	2	0	rs369570856		TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr3:141011689G>A	ENST00000286353.4	+	6	1222	c.1085G>A	c.(1084-1086)cGt>cAt	p.R362H	ACPL2_ENST00000393010.2_Missense_Mutation_p.R362H|ACPL2_ENST00000504264.1_Missense_Mutation_p.R345H|ACPL2_ENST00000393007.1_Missense_Mutation_p.R346H|ACPL2_ENST00000508812.1_Missense_Mutation_p.R353H|ACPL2_ENST00000502783.1_Missense_Mutation_p.R324H|RP11-438D8.2_ENST00000507698.1_RNA	NM_001037172.1|NM_001282728.1	NP_001032249.1|NP_001269657.1	Q8TE99	PXYP1_HUMAN		362						extracellular region (GO:0005576)	acid phosphatase activity (GO:0003993)			endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|prostate(2)|skin(2)	23						CGGATGCAGCGTGCCACCGAG	0.547																																						ENST00000508812.1																			0				endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|prostate(2)|skin(2)	23						c.(1057-1059)cGt>cAt		acid phosphatase-like 2		G	HIS/ARG,HIS/ARG	0,4406		0,0,2203	144	109	121		1085,1085	3.7	0.9	3		121	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	ACPL2	NM_001037172.1,NM_152282.3	29,29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging	362/481,362/481	141011689	1,13005	2203	4300	6503	SO:0001583	missense	92370					extracellular region	acid phosphatase activity	g.chr3:141011689G>A																												ENST00000286353.4:c.1085G>A	3.37:g.141011689G>A	ENSP00000286353:p.Arg362His					RP11-438D8.2_ENST00000507698.1_RNA|ACPL2_ENST00000502783.1_Missense_Mutation_p.R324H|ACPL2_ENST00000393007.1_Missense_Mutation_p.R346H|ACPL2_ENST00000504264.1_Missense_Mutation_p.R345H|ACPL2_ENST00000286353.4_Missense_Mutation_p.R362H|ACPL2_ENST00000393010.2_Missense_Mutation_p.R362H	p.R353H			Q8TE99	ACPL2_HUMAN			5	2965	+			362					D3DNF5|Q49AJ2|W0TR04	Missense_Mutation	SNP	ENST00000286353.4	37	c.1058G>A	CCDS3116.1	.	.	.	.	.	.	.	.	.	.	G	19.81	3.896854	0.72639	0.0	1.16E-4	ENSG00000155893	ENST00000286353;ENST00000502783;ENST00000393010;ENST00000504264;ENST00000508812;ENST00000393007;ENST00000332228	T;T;T;T;T;T	0.77098	-1.07;-1.07;-1.07;-1.07;-1.07;-1.07	5.48	3.67	0.42095	.	0.059828	0.64402	D	0.000002	D	0.84584	0.5504	M	0.66506	2.035	0.58432	D	0.999993	D;D	0.89917	1.0;1.0	D;D	0.75484	0.986;0.986	D	0.84465	0.0596	10	0.52906	T	0.07	.	10.2298	0.43247	0.166:0.0:0.834:0.0	.	345;362	B7Z3R9;Q8TE99	.;ACPL2_HUMAN	H	362;324;362;345;353;346;170	ENSP00000286353:R362H;ENSP00000422558:R324H;ENSP00000376733:R362H;ENSP00000426877:R345H;ENSP00000422901:R353H;ENSP00000376731:R346H	ENSP00000286353:R362H	R	+	2	0	ACPL2	142494379	0.990000	0.36364	0.857000	0.33713	0.734000	0.41952	2.019000	0.41001	1.313000	0.45069	0.655000	0.94253	CGT		0.547	ACPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359533.2			15	77	0	0	0	1	0	15	77					A	141011689	G	A	141011689	3	1	286	1	0	0	0	0	1	0	0	0	166	1145	40	1	1103	1	ACPL2	3	141011689	Missense_Mutation	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	145649	141011689	57010741	156	13286											
GPR149	344758	broad.mit.edu	37	chr3	154147110	154147110	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcacagaaattggaagtaacCggggacctcgtttggccact	11	8	12	10	2	0	1	0	0	0	1	1	3	0	3	3	4	1	3	3	4	3	3			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr3:154147110C>T	ENST00000389740.2	-	1	394	c.295G>A	c.(295-297)Ggt>Agt	p.G99S		NM_001038705.1	NP_001033794.1	Q86SP6	GP149_HUMAN	G protein-coupled receptor 149	99					antral ovarian follicle growth (GO:0001547)|estrous cycle phase (GO:0060206)|negative regulation of ovulation (GO:0060280)|preantral ovarian follicle growth (GO:0001546)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(22)|ovary(7)|prostate(1)|skin(1)|urinary_tract(2)	47			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			TGGAAGTAACCGGGGACCTCG	0.488																																						ENST00000389740.2																			0				autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(22)|ovary(7)|prostate(1)|skin(1)|urinary_tract(2)	47						c.(295-297)Ggt>Agt		G protein-coupled receptor 149							86	91	90					3																	154147110		2017	4171	6188	SO:0001583	missense	344758					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr3:154147110C>T	AY255534	CCDS43162.1	3q25.2	2012-08-21			ENSG00000174948	ENSG00000174948		"GPCR / Class A : Orphans"	23627	protein-coding gene	gene with protein product						12679517	Standard	NM_001038705		Approved	PGR10, IEDA	uc003faa.3	Q86SP6	OTTHUMG00000159131	ENST00000389740.2:c.295G>A	3.37:g.154147110C>T	ENSP00000374390:p.Gly99Ser						p.G99S	NM_001038705.1	NP_001033794.1	Q86SP6	GP149_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)		1	394	-			99						Missense_Mutation	SNP	ENST00000389740.2	37	c.295G>A	CCDS43162.1	.	.	.	.	.	.	.	.	.	.	C	10.30	1.312992	0.23908	.	.	ENSG00000174948	ENST00000389740	T	0.35605	1.3	5.91	5.02	0.67125	GPCR, rhodopsin-like superfamily (1);	0.595287	0.15939	N	0.237279	T	0.23886	0.0578	N	0.14661	0.345	0.09310	N	1	P	0.46578	0.88	B	0.41894	0.369	T	0.07927	-1.0747	10	0.41790	T	0.15	-5.048	11.4913	0.50383	0.0:0.9156:0.0:0.0844	.	99	Q86SP6	GP149_HUMAN	S	99	ENSP00000374390:G99S	ENSP00000374390:G99S	G	-	1	0	GPR149	155629804	0.081000	0.21417	0.044000	0.18714	0.216000	0.24613	1.302000	0.33459	2.793000	0.96121	0.655000	0.94253	GGT		0.488	GPR149-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353430.1	XM_293580		21	77	0	0	0	1	0	21	77					T	154147110	C	T	154147110	3	4	286	1	0	0	0	0	1	0	0	0	6654	652	23	2	1916	2	GPR149	3	154147110	Missense_Mutation	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	13135421	154147110	43875320	157	13287											
TTC14	151613	broad.mit.edu	37	chr3	180324131	180324131	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttggaaatagacaaacaaaaCgtggaagctttggtagctcg	15	9	11	6	2	0	1	0	0	0	1	1	3	0	3	0	3	4	3	0	3	7	4			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr3:180324131C>T	ENST00000296015.4	+	8	1152	c.1020C>T	c.(1018-1020)aaC>aaT	p.N340N	TTC14_ENST00000382584.4_Silent_p.N340N|TTC14_ENST00000412756.2_Silent_p.N340N	NM_133462.3	NP_597719.1	Q96N46	TTC14_HUMAN	tetratricopeptide repeat domain 14	340							RNA binding (GO:0003723)			endometrium(3)|kidney(5)|large_intestine(9)|lung(24)|ovary(2)|pancreas(1)|skin(1)	45	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)			ACAAACAAAACGTGGAAGCTT	0.363																																						ENST00000412756.2																			0				endometrium(3)|kidney(5)|large_intestine(9)|lung(24)|ovary(2)|pancreas(1)|skin(1)	45						c.(1018-1020)aaC>aaT		tetratricopeptide repeat domain 14							132	129	130					3																	180324131		2203	4300	6503	SO:0001819	synonymous_variant	151613						RNA binding	g.chr3:180324131C>T	AB075860	CCDS3237.1, CCDS46963.1, CCDS75055.1	3q27.2	2013-01-10			ENSG00000163728	ENSG00000163728		"Tetratricopeptide (TTC) repeat domain containing"	24697	protein-coding gene	gene with protein product						11853319	Standard	NM_001042601		Approved	FLJ00166, KIAA1980	uc003fkk.3	Q96N46	OTTHUMG00000157859	ENST00000296015.4:c.1020C>T	3.37:g.180324131C>T						TTC14_ENST00000382584.4_Silent_p.N340N|TTC14_ENST00000296015.4_Silent_p.N340N	p.N340N	NM_001042601.2	NP_001036066.1	Q96N46	TTC14_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)		8	1089	+	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		340					G5E9X0|Q6UWJ7|Q8TF22	Silent	SNP	ENST00000296015.4	37	c.1020C>T	CCDS3237.1																																																																																				0.363	TTC14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349786.1	NM_133462		5	52	0	0	0	1	0	5	52					T	180324131	C	T	180324131	2	4	286	1	0	0	0	0	0	0	0	1	16678	535	19	1		1	TTC14	3	180324131	Silent	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	26177021	180324131	17698299	158	13288											
MAP3K13	9175	broad.mit.edu	37	chr3	185184670	185184670	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctacaaacgacaccctgttcGtcctatcatccatcccaatg	11	10	4	16	2	1	0	1	0	0	0	5	1	4	0	4	0	2	1	4	0	4	3	rs188669013		TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr3:185184670G>A	ENST00000265026.3	+	10	1896	c.1562G>A	c.(1561-1563)cGt>cAt	p.R521H	MAP3K13_ENST00000535426.1_Missense_Mutation_p.R377H|MAP3K13_ENST00000446828.1_Missense_Mutation_p.R314H|MAP3K13_ENST00000443863.1_Missense_Mutation_p.R377H|MAP3K13_ENST00000424227.1_Missense_Mutation_p.R521H	NM_004721.4	NP_004712.1			mitogen-activated protein kinase kinase kinase 13									p.R521H(1)		NS(1)|biliary_tract(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(13)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54	all_cancers(143;7.21e-11)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)			CACCCTGTTCGTCCTATCATC	0.488													G|||	1	0.000199681	8e-04	0	5008	,	,		18127	0		0	False		,,,				2504	0					ENST00000265026.3																			1	Substitution - Missense(1)	p.R521H(1)	ovary(1)	NS(1)|biliary_tract(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(13)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54						c.(1561-1563)cGt>cAt		mitogen-activated protein kinase kinase kinase 13							150	120	130					3																	185184670		2203	4300	6503	SO:0001583	missense	9175				activation of MAPKK activity|JNK cascade|positive regulation of NF-kappaB transcription factor activity|protein autophosphorylation	cytoplasm|membrane|membrane fraction	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding	g.chr3:185184670G>A	BC031677	CCDS3270.1, CCDS56298.1	3q27	2011-06-09			ENSG00000073803	ENSG00000073803		"Mitogen-activated protein kinase cascade / Kinase kinase kinases"	6852	protein-coding gene	gene with protein product	"leucine zipper-bearing kinase"	604915				9353328	Standard	NM_004721		Approved	LZK, MEKK13	uc003fpi.3	O43283	OTTHUMG00000156673	ENST00000265026.3:c.1562G>A	3.37:g.185184670G>A	ENSP00000265026:p.Arg521His					MAP3K13_ENST00000446828.1_Missense_Mutation_p.R314H|MAP3K13_ENST00000443863.1_Missense_Mutation_p.R377H|MAP3K13_ENST00000535426.1_Missense_Mutation_p.R377H|MAP3K13_ENST00000424227.1_Missense_Mutation_p.R521H	p.R521H	NM_004721.4	NP_004712.1	O43283	M3K13_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)		10	1896	+	all_cancers(143;7.21e-11)|Ovarian(172;0.0339)		521						Missense_Mutation	SNP	ENST00000265026.3	37	c.1562G>A	CCDS3270.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	21.4	4.138601	0.77775	.	.	ENSG00000073803	ENST00000446828;ENST00000424227;ENST00000443863;ENST00000535426;ENST00000265026	T;T;T;T;T	0.24538	1.85;1.85;1.85;1.85;1.85	5.56	4.68	0.58851	Protein kinase-like domain (1);	0.000000	0.85682	D	0.000000	T	0.32675	0.0837	L	0.32530	0.975	0.80722	D	1	P;D;P	0.56287	0.89;0.975;0.915	B;P;P	0.53035	0.329;0.716;0.475	T	0.06954	-1.0798	10	0.52906	T	0.07	.	16.1016	0.81175	0.0:0.0:0.865:0.135	.	377;314;521	O43283-4;O43283-5;O43283	.;.;M3K13_HUMAN	H	314;521;377;377;521	ENSP00000411483:R314H;ENSP00000399910:R521H;ENSP00000409325:R377H;ENSP00000439257:R377H;ENSP00000265026:R521H	ENSP00000265026:R521H	R	+	2	0	MAP3K13	186667364	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	9.695000	0.98691	1.453000	0.47775	0.655000	0.94253	CGT		0.488	MAP3K13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345268.1	NM_004721		8	54	0	0	0	1	0	8	54					A	185184670	G	A	185184670	3	1	286	1	0	0	0	0	1	0	0	0	9247	1145	40	1	1596	1	MAP3K13	3	185184670	Missense_Mutation	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	4860539	185184670	12837760	159	13289											
IL1RAP	3556	broad.mit.edu	37	chr3	190322109	190322109	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaggagccaattaacttccGcctccccgagaaccgcatta	11	8	8	14	3	0	2	0	1	0	1	2	4	2	3	6	1	3	1	6	1	4	3			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr3:190322109G>A	ENST00000412504.2	+	3	509	c.257G>A	c.(256-258)cGc>cAc	p.R86H	IL1RAP_ENST00000443369.2_Missense_Mutation_p.R86H|IL1RAP_ENST00000317757.3_Missense_Mutation_p.R86H|IL1RAP_ENST00000072516.3_Missense_Mutation_p.R86H|IL1RAP_ENST00000447382.1_Missense_Mutation_p.R86H|IL1RAP_ENST00000439062.1_Missense_Mutation_p.R86H|IL1RAP_ENST00000422485.1_Missense_Mutation_p.R86H|IL1RAP_ENST00000422940.1_Missense_Mutation_p.R86H|IL1RAP_ENST00000434491.1_Intron			Q9NPH3	IL1AP_HUMAN	interleukin 1 receptor accessory protein	86	Ig-like C2-type 1.				immune response (GO:0006955)|inflammatory response (GO:0006954)|interleukin-2 biosynthetic process (GO:0042094)|protein complex assembly (GO:0006461)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	interleukin-1 receptor activity (GO:0004908)|signal transducer activity (GO:0004871)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	20	all_cancers(143;3.61e-10)|Ovarian(172;0.0733)|Breast(254;0.21)		Lung(62;1.95e-06)|LUSC - Lung squamous cell carcinoma(58;2.05e-06)	GBM - Glioblastoma multiforme(93;0.00851)		ATTAACTTCCGCCTCCCCGAG	0.507																																						ENST00000412504.2																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	20						c.(256-258)cGc>cAc		interleukin 1 receptor accessory protein							100	90	94					3																	190322109		2203	4300	6503	SO:0001583	missense	0				inflammatory response|innate immune response|protein complex assembly	extracellular region|integral to plasma membrane		g.chr3:190322109G>A	AB006537	CCDS3298.1, CCDS46982.1, CCDS54696.1	3q28	2013-01-11			ENSG00000196083	ENSG00000196083		"Interleukins and interleukin receptors", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5995	protein-coding gene	gene with protein product		602626				9479509, 9065432	Standard	NM_002182		Approved	IL-1RAcP, IL1R3, C3orf13	uc003fsq.3	Q9NPH3	OTTHUMG00000156211	ENST00000412504.2:c.257G>A	3.37:g.190322109G>A	ENSP00000412053:p.Arg86His					IL1RAP_ENST00000447382.1_Missense_Mutation_p.R86H|IL1RAP_ENST00000317757.3_Missense_Mutation_p.R86H|IL1RAP_ENST00000422485.1_Missense_Mutation_p.R86H|IL1RAP_ENST00000072516.3_Missense_Mutation_p.R86H|IL1RAP_ENST00000422940.1_Missense_Mutation_p.R86H|IL1RAP_ENST00000443369.2_Missense_Mutation_p.R86H|IL1RAP_ENST00000434491.1_Intron|IL1RAP_ENST00000439062.1_Missense_Mutation_p.R86H	p.R86H			Q9NPH3	IL1AP_HUMAN	Lung(62;1.95e-06)|LUSC - Lung squamous cell carcinoma(58;2.05e-06)	GBM - Glioblastoma multiforme(93;0.00851)	3	509	+	all_cancers(143;3.61e-10)|Ovarian(172;0.0733)|Breast(254;0.21)		86			Ig-like C2-type 1.		B1NLD0|D3DNW0|O14915|Q86WJ7	Missense_Mutation	SNP	ENST00000412504.2	37	c.257G>A	CCDS3298.1	.	.	.	.	.	.	.	.	.	.	G	18.25	3.582601	0.65992	.	.	ENSG00000196083	ENST00000072516;ENST00000443369;ENST00000412504;ENST00000439062;ENST00000447382;ENST00000422625;ENST00000422485;ENST00000422940;ENST00000317757;ENST00000453359	T;T;T;T;T;T;T;T;T;T	0.78126	-1.15;-1.15;-1.15;-1.15;-1.15;-1.15;-1.15;-1.15;-1.15;1.98	5.61	5.61	0.85477	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.74382	0.3709	L	0.35854	1.095	0.49389	D	0.999783	D;D;D	0.63880	0.993;0.983;0.984	P;P;B	0.45681	0.452;0.49;0.369	T	0.74206	-0.3740	10	0.38643	T	0.18	.	18.9874	0.92777	0.0:0.0:1.0:0.0	.	86;86;86	Q9NPH3-5;Q9NPH3;Q9NPH3-2	.;IL1AP_HUMAN;.	H	86	ENSP00000072516:R86H;ENSP00000408893:R86H;ENSP00000412053:R86H;ENSP00000401132:R86H;ENSP00000390541:R86H;ENSP00000389149:R86H;ENSP00000409352:R86H;ENSP00000387371:R86H;ENSP00000314807:R86H;ENSP00000412008:R86H	ENSP00000072516:R86H	R	+	2	0	IL1RAP	191804803	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	6.774000	0.75012	2.813000	0.96785	0.655000	0.94253	CGC		0.507	IL1RAP-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000343497.1			15	51	0	0	0	1	0	15	51					A	190322109	G	A	190322109	3	1	286	1	0	0	0	0	1	0	0	0	7660	1087	38	1	263	1	IL1RAP	3	190322109	Missense_Mutation	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	5137439	190322109	7700321	160	13290											
GAK	2580	broad.mit.edu	37	chr4	871404	871404	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gggctgcagctgcactcaccGcatcttgtcgtactcctggg	5	10	12	14	2	2	0	1	0	1	0	4	0	3	0	2	2	4	6	2	2	1	2			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr4:871404G>A	ENST00000314167.4	-	16	1965	c.1855C>T	c.(1855-1857)Cgg>Tgg	p.R619W	GAK_ENST00000511163.1_Splice_Site_p.R540W	NM_005255.2	NP_005246.2	O14976	GAK_HUMAN	cyclin G associated kinase	619	C2 tensin-type. {ECO:0000255|PROSITE- ProRule:PRU00589}.				cell cycle (GO:0007049)|cell development (GO:0048468)|clathrin coat disassembly (GO:0072318)|clathrin-mediated endocytosis (GO:0072583)|endoplasmic reticulum organization (GO:0007029)|epidermal cell differentiation (GO:0009913)|establishment of skin barrier (GO:0061436)|forebrain morphogenesis (GO:0048853)|Golgi organization (GO:0007030)|intrahepatic bile duct development (GO:0035622)|positive regulation of neural precursor cell proliferation (GO:2000179)	cell junction (GO:0030054)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(16)|skin(7)|urinary_tract(2)	39				Colorectal(103;0.219)		TGCACTCACCGCATCTTGTCG	0.652																																						ENST00000314167.4																			0				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(16)|skin(7)|urinary_tract(2)	39						c.e16+1		cyclin G associated kinase							47	42	44					4																	871404		2203	4300	6503	SO:0001630	splice_region_variant	2580				cell cycle	focal adhesion|Golgi apparatus|perinuclear region of cytoplasm	ATP binding|heat shock protein binding|protein serine/threonine kinase activity	g.chr4:871404G>A	D88435	CCDS3340.1	4p16	2011-09-07			ENSG00000178950	ENSG00000178950		"Heat shock proteins / DNAJ (HSP40)"	4113	protein-coding gene	gene with protein product	"auxilin-2"	602052				9299234	Standard	NM_005255		Approved	DNAJC26	uc003gbm.4	O14976	OTTHUMG00000088301	ENST00000314167.4:c.1856+1C>T	4.37:g.871404G>A						GAK_ENST00000511163.1_Splice_Site_p.R540_splice	p.R619_splice	NM_005255.2	NP_005246.2	O14976	GAK_HUMAN		Colorectal(103;0.219)	16	1965	-			619			C2 tensin-type.		Q5U4P5|Q9BVY6	Splice_Site	SNP	ENST00000314167.4	37	c.1856_splice	CCDS3340.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.987428	0.74589	.	.	ENSG00000178950	ENST00000314167;ENST00000511163	D;D	0.85773	-2.03;-2.03	5.71	0.188	0.15114	Tensin phosphatase, C2 domain (2);C2 calcium/lipid-binding domain, CaLB (1);	0.275248	0.38720	N	0.001590	D	0.89884	0.6844	M	0.67700	2.07	0.58432	D	0.999992	D;D;D;D	0.89917	1.0;1.0;0.999;0.999	D;D;D;D	0.72982	0.979;0.972;0.979;0.979	D	0.88923	0.3367	10	0.87932	D	0	-25.9473	13.728	0.62769	0.0:0.0:0.5467:0.4533	.	540;540;619;515	Q5U4P5;E9PGR2;O14976;Q59HA5	.;.;GAK_HUMAN;.	W	619;540	ENSP00000314499:R619W;ENSP00000421361:R540W	ENSP00000314499:R619W	R	-	1	2	GAK	861404	1.000000	0.71417	0.957000	0.39632	0.789000	0.44602	1.944000	0.40263	-0.165000	0.10908	-0.262000	0.10625	CGG		0.652	GAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239188.1	NM_005255	Missense_Mutation	5	39	0	0	0	1	0	5	39					A	871404	G	A	871404	5	1	286	1	0	0	0	0	0	0	1	0	6195	1101	38	1	2132	1	GAK	4	871404	Splice_Site	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08		871404	190282872	161	13291											
SPON2	10417	broad.mit.edu	37	chr4	1164338	1164338	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gggtagtagaaggagttggcCgggtggctgggagaggagga	9	6	23	3	1	0	2	0	0	0	2	0	6	0	5	1	8	0	4	1	8	3	3	rs545107781		TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr4:1164338C>T	ENST00000290902.5	-	5	995	c.663G>A	c.(661-663)ccG>ccA	p.P221P	RP11-20I20.4_ENST00000609548.1_RNA|SPON2_ENST00000431380.1_Silent_p.P221P	NM_012445.3	NP_036577	Q9BUD6	SPON2_HUMAN	spondin 2, extracellular matrix protein	221	Spondin. {ECO:0000255|PROSITE- ProRule:PRU00364}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|innate immune response (GO:0045087)	extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|pancreas(1)|skin(1)	9			OV - Ovarian serous cystadenocarcinoma(23;0.00805)	UCEC - Uterine corpus endometrioid carcinoma (64;0.139)|Colorectal(103;0.19)		AGGAGTTGGCCGGGTGGCTGG	0.652													C|||	1	0.000199681	0	0	5008	,	,		17824	0		0	False		,,,				2504	0.001					ENST00000290902.5																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|pancreas(1)|skin(1)	9						c.(661-663)ccG>ccA		spondin 2, extracellular matrix protein							90	93	92					4																	1164338		2202	4300	6502	SO:0001819	synonymous_variant	10417				axon guidance|cell adhesion|innate immune response	proteinaceous extracellular matrix	metal ion binding	g.chr4:1164338C>T	AB027466	CCDS3347.1	4p16.3	2008-07-29			ENSG00000159674	ENSG00000159674			11253	protein-coding gene	gene with protein product	"Mindin", "M-spondin"	605918				10512675, 15094111	Standard	NM_012445		Approved	DIL1	uc003gco.4	Q9BUD6	OTTHUMG00000089002	ENST00000290902.5:c.663G>A	4.37:g.1164338C>T						SPON2_ENST00000431380.1_Silent_p.P221P	p.P221P	NM_012445.3	NP_036577.1	Q9BUD6	SPON2_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.00805)	UCEC - Uterine corpus endometrioid carcinoma (64;0.139)|Colorectal(103;0.19)	5	995	-			221			Spondin.		D3DVN9|Q4W5N4|Q9ULW1	Silent	SNP	ENST00000290902.5	37	c.663G>A	CCDS3347.1																																																																																				0.652	SPON2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000202080.2			4	26	0	0	0	1	0	4	26					T	1164338	C	T	1164338	2	4	286	1	0	0	0	0	0	0	0	1	15082	639	23	2		2	SPON2	4	1164338	Silent	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	292934	1164338	189989938	162	13292											
FGFR3	2261	broad.mit.edu	37	chr4	1805423	1805423	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctctctctttgtagacggCgggcgctaacaccaccgaca	8	9	10	14	4	2	1	0	0	2	1	3	2	2	1	2	2	2	3	2	2	2	3			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr4:1805423C>T	ENST00000260795.2	+	7	1037	c.935C>T	c.(934-936)gCg>gTg	p.A312V	FGFR3_ENST00000440486.2_Missense_Mutation_p.A312V|FGFR3_ENST00000412135.2_Intron|FGFR3_ENST00000352904.1_Intron|FGFR3_ENST00000340107.4_Intron|FGFR3_ENST00000481110.2_Missense_Mutation_p.A312V			P22607	FGFR3_HUMAN	fibroblast growth factor receptor 3	312	Ig-like C2-type 3.				alveolar secondary septum development (GO:0061144)|axonogenesis involved in innervation (GO:0060385)|bone maturation (GO:0070977)|bone mineralization (GO:0030282)|bone morphogenesis (GO:0060349)|cell-cell signaling (GO:0007267)|central nervous system myelination (GO:0022010)|chondrocyte differentiation (GO:0002062)|chondrocyte proliferation (GO:0035988)|cochlea development (GO:0090102)|digestive tract morphogenesis (GO:0048546)|endochondral bone growth (GO:0003416)|endochondral ossification (GO:0001958)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell fate commitment (GO:0072148)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor apoptotic signaling pathway (GO:1902178)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inner ear receptor cell differentiation (GO:0060113)|insulin receptor signaling pathway (GO:0008286)|JAK-STAT cascade (GO:0007259)|lens fiber cell development (GO:0070307)|lens morphogenesis in camera-type eye (GO:0002089)|MAPK cascade (GO:0000165)|morphogenesis of an epithelium (GO:0002009)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of developmental growth (GO:0048640)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of mitosis (GO:0045839)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway (GO:0090080)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|protein autophosphorylation (GO:0046777)|response to axon injury (GO:0048678)|skeletal system development (GO:0001501)|somatic stem cell maintenance (GO:0035019)|substantia nigra development (GO:0021762)	cell surface (GO:0009986)|cytoplasmic side of plasma membrane (GO:0009898)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|fibroblast growth factor binding (GO:0017134)|fibroblast growth factor-activated receptor activity (GO:0005007)|protein tyrosine kinase activity (GO:0004713)			NS(1)|central_nervous_system(5)|cervix(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(40)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(9)|skin(339)|soft_tissue(4)|testis(2)|upper_aerodigestive_tract(58)|urinary_tract(2607)	3091		Breast(71;0.212)|all_epithelial(65;0.241)	all cancers(2;0.000145)|OV - Ovarian serous cystadenocarcinoma(23;0.0019)|Epithelial(3;0.00221)|GBM - Glioblastoma multiforme(2;0.234)		Palifermin(DB00039)|Pazopanib(DB06589)|Ponatinib(DB08901)	TTGTAGACGGCGGGCGCTAAC	0.612		1	"Mis, T"	"IGH@, ETV6"	"bladder, MM, T-cell lymphoma"		"Hypochondroplasia, Thanatophoric dysplasia"		Saethre-Chotzen syndrome;Muenke syndrome																													ENST00000440486.2		1		Dom	yes		4	4p16.3	2261	"Mis, T"	fibroblast growth factor receptor 3	yes	"Hypochondroplasia, Thanatophoric dysplasia"	"L, E"	"IGH@, ETV6"		"bladder, MM, T-cell lymphoma"		0				NS(1)|central_nervous_system(5)|cervix(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(40)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(9)|skin(339)|soft_tissue(4)|testis(2)|upper_aerodigestive_tract(58)|urinary_tract(2607)	3091						c.(934-936)gCg>gTg		fibroblast growth factor receptor 3	Palifermin(DB00039)						58	55	56					4																	1805423		2202	4300	6502	SO:0001583	missense	2261	Saethre-Chotzen syndrome;Muenke syndrome	Familial Cancer Database	Acrocephalosyndactyly type III;Muenke Nonsyndromic Coronal Craniosynostosis, FGFR3-related Craniosynostosis	bone maturation|cell growth|insulin receptor signaling pathway|JAK-STAT cascade|MAPKKK cascade|negative regulation of developmental growth|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|identical protein binding	g.chr4:1805423C>T	M64347	CCDS3353.1, CCDS3354.1, CCDS54706.1	4p16.3	2013-01-11	2008-08-01		ENSG00000068078	ENSG00000068078		"CD molecules", "Immunoglobulin superfamily / I-set domain containing"	3690	protein-coding gene	gene with protein product		134934	"achondroplasia, thanatophoric dwarfism"	ACH		1847508	Standard	NM_000142		Approved	CEK2, JTK4, CD333	uc003gdu.2	P22607	OTTHUMG00000121148	ENST00000260795.2:c.935C>T	4.37:g.1805423C>T	ENSP00000260795:p.Ala312Val					FGFR3_ENST00000352904.1_Intron|FGFR3_ENST00000340107.4_Intron|FGFR3_ENST00000412135.2_Intron|FGFR3_ENST00000260795.2_Missense_Mutation_p.A312V|FGFR3_ENST00000481110.2_Missense_Mutation_p.A312V	p.A312V	NM_000142.4	NP_000133.1	P22607	FGFR3_HUMAN	all cancers(2;0.000145)|OV - Ovarian serous cystadenocarcinoma(23;0.0019)|Epithelial(3;0.00221)|GBM - Glioblastoma multiforme(2;0.234)		8	1191	+		Breast(71;0.212)|all_epithelial(65;0.241)	312			Ig-like C2-type 3.		D3DVP9|D3DVQ0|Q14308|Q16294|Q16608|Q59FL9	Missense_Mutation	SNP	ENST00000260795.2	37	c.935C>T	CCDS3353.1	.	.	.	.	.	.	.	.	.	.	c	35	5.431844	0.96150	.	.	ENSG00000068078	ENST00000481110;ENST00000440486;ENST00000260795;ENST00000507588	T;T;T;T	0.79352	-0.31;-0.31;-0.31;-1.26	4.29	4.29	0.51040	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.593369	0.17187	N	0.183677	T	0.76133	0.3945	L	0.39898	1.24	0.80722	D	1	P;P;P;D	0.64830	0.484;0.928;0.92;0.994	B;B;B;P	0.47603	0.129;0.133;0.44;0.551	T	0.79478	-0.1787	10	0.56958	D	0.05	.	17.0932	0.86627	0.0:1.0:0.0:0.0	.	275;312;312;312	Q8NI15;P22607-4;P22607;F8W9L4	.;.;FGFR3_HUMAN;.	V	312;312;312;98	ENSP00000420533:A312V;ENSP00000414914:A312V;ENSP00000260795:A312V;ENSP00000427289:A98V	ENSP00000260795:A312V	A	+	2	0	FGFR3	1775221	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.616000	0.83018	2.079000	0.62486	0.561000	0.74099	GCG		0.612	FGFR3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000241632.2	NM_000142		5	23	0	0	0	1	0	5	23					T	1805423	C	T	1805423	3	4	286	1	0	0	0	0	1	0	0	0	5867	768	27	1	1116	1	FGFR3	4	1805423	Missense_Mutation	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	641085	1805423	189348853	163	13293											
ZFYVE28	57732	broad.mit.edu	37	chr4	2273484	2273484	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agtgcacagtcctccaaggcCgcactccgcagagtctgggt	8	7	12	14	2	1	1	0	0	1	1	4	1	4	1	4	2	1	3	4	2	1	0	rs549587391		TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr4:2273484C>T	ENST00000290974.2	-	11	2685	c.2346G>A	c.(2344-2346)gcG>gcA	p.A782A	ZFYVE28_ENST00000511071.1_Silent_p.A752A|ZFYVE28_ENST00000508471.1_Silent_p.A87A|ZFYVE28_ENST00000515312.1_Silent_p.A712A	NM_020972.2	NP_066023.2	Q9HCC9	LST2_HUMAN	zinc finger, FYVE domain containing 28	782					negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of epidermal growth factor-activated receptor activity (GO:0007175)	cytosol (GO:0005829)|early endosome membrane (GO:0031901)	metal ion binding (GO:0046872)|phosphatidylinositol-3-phosphate binding (GO:0032266)			NS(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(4)	31						CCTCCAAGGCCGCACTCCGCA	0.627													c|||	1	0.000199681	0	0.0014	5008	,	,		18772	0		0	False		,,,				2504	0					ENST00000290974.2																			0				NS(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(4)	31						c.(2344-2346)gcG>gcA		zinc finger, FYVE domain containing 28							95	97	96					4																	2273484		2203	4300	6503	SO:0001819	synonymous_variant	57732				negative regulation of epidermal growth factor receptor activity	cytosol|early endosome membrane	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding	g.chr4:2273484C>T	AK126692	CCDS33942.1, CCDS54708.1, CCDS54709.1, CCDS54710.1, CCDS54711.1, CCDS54712.1	4p16.3	2008-05-02			ENSG00000159733	ENSG00000159733		"Zinc fingers, FYVE domain containing"	29334	protein-coding gene	gene with protein product		614176				10997877	Standard	NM_020972		Approved	KIAA1643	uc003gex.2	Q9HCC9	OTTHUMG00000160292	ENST00000290974.2:c.2346G>A	4.37:g.2273484C>T						ZFYVE28_ENST00000508471.1_Silent_p.A87A|ZFYVE28_ENST00000511071.1_Silent_p.A752A|ZFYVE28_ENST00000515312.1_Silent_p.A712A	p.A782A	NM_020972.2	NP_066023.2	Q9HCC9	LST2_HUMAN			11	2685	-			782					B2RP83|B3KX50|B7Z1Q7|B7Z2G9|B7Z2M2|B7ZB19|E9PB54|E9PB64|E9PG77|Q7Z6J3	Silent	SNP	ENST00000290974.2	37	c.2346G>A	CCDS33942.1																																																																																				0.627	ZFYVE28-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000360078.1	XM_035371		29	139	0	0	0	1	0	29	139					T	2273484	C	T	2273484	2	4	286	1	0	0	0	0	0	0	0	1	17667	639	23	2		2	ZFYVE28	4	2273484	Silent	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	468061	2273484	188880792	164	13294											
HTT	3064	broad.mit.edu	37	chr4	3235012	3235012	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggagtgcgacctgctggaCgacactgccaagcagctcat	9	7	12	13	2	1	0	1	0	0	0	1	4	1	2	2	2	5	3	2	2	1	0			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr4:3235012C>T	ENST00000355072.5	+	61	8533	c.8388C>T	c.(8386-8388)gaC>gaT	p.D2796D	HTT_ENST00000513806.1_Intron	NM_002111.6	NP_002102	P42858	HD_HUMAN	huntingtin	2796					anterior/posterior pattern specification (GO:0009952)|axon cargo transport (GO:0008088)|cell aging (GO:0007569)|citrulline metabolic process (GO:0000052)|determination of adult lifespan (GO:0008340)|dopamine receptor signaling pathway (GO:0007212)|endoplasmic reticulum organization (GO:0007029)|endosomal transport (GO:0016197)|ER to Golgi vesicle-mediated transport (GO:0006888)|establishment of mitotic spindle orientation (GO:0000132)|Golgi organization (GO:0007030)|grooming behavior (GO:0007625)|hormone metabolic process (GO:0042445)|insulin secretion (GO:0030073)|iron ion homeostasis (GO:0055072)|L-glutamate import (GO:0051938)|lactate biosynthetic process from pyruvate (GO:0019244)|locomotory behavior (GO:0007626)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of neuron apoptotic process (GO:0043524)|neural plate formation (GO:0021990)|neuron apoptotic process (GO:0051402)|neuron development (GO:0048666)|olfactory lobe development (GO:0021988)|organ development (GO:0048513)|paraxial mesoderm formation (GO:0048341)|positive regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031587)|protein import into nucleus (GO:0006606)|quinolinate biosynthetic process (GO:0019805)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of protein phosphatase type 2A activity (GO:0034047)|regulation of synaptic plasticity (GO:0048167)|response to calcium ion (GO:0051592)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|social behavior (GO:0035176)|spermatogenesis (GO:0007283)|striatum development (GO:0021756)|urea cycle (GO:0000050)|vesicle transport along microtubule (GO:0047496)|visual learning (GO:0008542)	autophagic vacuole (GO:0005776)|axon (GO:0030424)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|inclusion body (GO:0016234)|late endosome (GO:0005770)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein complex (GO:0043234)	beta-tubulin binding (GO:0048487)|diazepam binding (GO:0050809)|dynactin binding (GO:0034452)|dynein intermediate chain binding (GO:0045505)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|p53 binding (GO:0002039)|transcription factor binding (GO:0008134)			breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		ACCTGCTGGACGACACTGCCA	0.657																																						ENST00000355072.5																			0				breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87						c.(8386-8388)gaC>gaT		huntingtin							114	126	122					4																	3235012		2114	4225	6339	SO:0001819	synonymous_variant	3064				establishment of mitotic spindle orientation|Golgi organization|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule	autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|Golgi apparatus|late endosome|membrane fraction|nucleus|protein complex	beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding	g.chr4:3235012C>T	L12392	CCDS43206.1	4p16.3	2014-09-17	2007-12-04	2007-12-04	ENSG00000197386	ENSG00000197386		"Endogenous ligands"	4851	protein-coding gene	gene with protein product		613004	"huntingtin (Huntington disease)"	HD		8458085	Standard	NM_002111		Approved	IT15	uc021xkv.1	P42858	OTTHUMG00000159916	ENST00000355072.5:c.8388C>T	4.37:g.3235012C>T						HTT_ENST00000513806.1_Intron	p.D2796D	NM_002111.6	NP_002102.4	P42858	HD_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)	61	8533	+		all_epithelial(65;0.18)	2796					Q9UQB7	Silent	SNP	ENST00000355072.5	37	c.8388C>T	CCDS43206.1																																																																																				0.657	HTT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358234.2	NM_002111		27	196	0	0	0	1	0	27	196					T	3235012	C	T	3235012	2	4	286	1	0	0	0	0	0	0	0	1	7457	535	19	1		1	HTT	4	3235012	Silent	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	961528	3235012	187919264	165	13295											
RGS12	6002	broad.mit.edu	37	chr4	3318863	3318863	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accatgcagacgaatgacgaCgggagcctggcccaggagga	12	3	15	11	3	0	2	0	1	0	1	0	7	0	5	3	4	2	1	3	4	1	0			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr4:3318863C>T	ENST00000344733.5	+	2	1870	c.966C>T	c.(964-966)gaC>gaT	p.D322D	RGS12_ENST00000543385.1_Silent_p.D322D|RGS12_ENST00000382788.3_Silent_p.D322D|RGS12_ENST00000336727.3_Silent_p.D322D	NM_198229.2	NP_937872.1	O14924	RGS12_HUMAN	regulator of G-protein signaling 12	322	PID. {ECO:0000255|PROSITE- ProRule:PRU00148}.				positive regulation of GTPase activity (GO:0043547)|regulation of catalytic activity (GO:0050790)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|transcription, DNA-templated (GO:0006351)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|GTPase regulator activity (GO:0030695)|receptor signaling protein activity (GO:0005057)			autonomic_ganglia(1)|breast(4)|endometrium(3)|kidney(2)|large_intestine(9)|lung(16)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		CGAATGACGACGGGAGCCTGG	0.617																																						ENST00000336727.3																			0				autonomic_ganglia(1)|breast(4)|endometrium(3)|kidney(2)|large_intestine(9)|lung(16)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						c.(964-966)gaC>gaT		regulator of G-protein signaling 12							69	77	74					4																	3318863		2203	4300	6503	SO:0001819	synonymous_variant	6002					condensed nuclear chromosome|cytoplasm|plasma membrane	GTPase activator activity|receptor signaling protein activity	g.chr4:3318863C>T	AF035152	CCDS3366.1, CCDS3367.1, CCDS3368.1	4p16.3	2008-02-05	2007-08-14		ENSG00000159788	ENSG00000159788		"Regulators of G-protein signaling"	9994	protein-coding gene	gene with protein product		602512	"regulator of G-protein signalling 12"			9651375	Standard	NM_198229		Approved		uc003ggw.3	O14924	OTTHUMG00000090277	ENST00000344733.5:c.966C>T	4.37:g.3318863C>T						RGS12_ENST00000382788.3_Silent_p.D322D|RGS12_ENST00000344733.5_Silent_p.D322D|RGS12_ENST00000543385.1_Silent_p.D322D	p.D322D	NM_002926.3	NP_002917.1	O14924	RGS12_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.168)	2	1870	+			322			PID.		B1AQ30|B1AQ31|B1AQ32|B7Z764|E7EMN9|O14922|O14923|O43510|O75338|Q147X0|Q8WX95	Silent	SNP	ENST00000344733.5	37	c.966C>T	CCDS3366.1																																																																																				0.617	RGS12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206602.1	NM_002926		18	108	0	0	0	1	0	18	108					T	3318863	C	T	3318863	2	4	286	1	0	0	0	0	0	0	0	1	13295	535	19	1		1	RGS12	4	3318863	Silent	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	83851	3318863	187835413	166	13296											
EVC	2121	broad.mit.edu	37	chr4	5755633	5755633	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttcctggctgaggcccagccGactgctgacccggaaaagtt	8	8	12	13	2	0	2	0	2	0	0	1	4	1	3	4	3	2	3	4	3	2	2	rs112861104	byFrequency	TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr4:5755633G>A	ENST00000264956.6	+	10	1621	c.1437G>A	c.(1435-1437)ccG>ccA	p.P479P	EVC_ENST00000382674.2_Silent_p.P479P|EVC_ENST00000509451.1_Silent_p.P479P	NM_153717.2	NP_714928.1	P57679	EVC_HUMAN	Ellis van Creveld syndrome	479					cartilage development (GO:0051216)|endochondral bone growth (GO:0003416)|muscle organ development (GO:0007517)|positive regulation of smoothened signaling pathway (GO:0045880)|skeletal system development (GO:0001501)|smoothened signaling pathway (GO:0007224)	ciliary basal body (GO:0036064)|cilium (GO:0005929)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|breast(1)|endometrium(2)|large_intestine(10)|lung(11)|ovary(1)|skin(1)|stomach(1)	28		Myeloproliferative disorder(84;0.117)				AGGCCCAGCCGACTGCTGACC	0.602																																						ENST00000382674.2																			0				NS(1)|breast(1)|endometrium(2)|large_intestine(10)|lung(11)|ovary(1)|skin(1)|stomach(1)	28						c.(1435-1437)ccG>ccA		Ellis van Creveld syndrome		G		1,4405	2.1+/-5.4	0,1,2202	69	66	67		1437	1	0	4	dbSNP_132	67	0,8600		0,0,4300	no	coding-synonymous	EVC	NM_153717.2		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		479/993	5755633	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	2121				muscle organ development	integral to membrane		g.chr4:5755633G>A	AF216184	CCDS3383.1	4p16	2008-07-03			ENSG00000072840	ENSG00000072840			3497	protein-coding gene	gene with protein product		604831				10700184	Standard	NM_153717		Approved	DWF-1	uc003gil.1	P57679	OTTHUMG00000090427	ENST00000264956.6:c.1437G>A	4.37:g.5755633G>A						EVC_ENST00000509451.1_Silent_p.P479P|EVC_ENST00000264956.6_Silent_p.P479P	p.P479P			P57679	EVC_HUMAN			10	1621	+		Myeloproliferative disorder(84;0.117)	479						Silent	SNP	ENST00000264956.6	37	c.1437G>A	CCDS3383.1																																																																																				0.602	EVC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206859.1			8	39	0	0	0	1	0	8	39					A	5755633	G	A	5755633	2	1	286	1	0	0	0	0	0	0	0	1	5285	1045	37	2		2	EVC	4	5755633	Silent	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	2436770	5755633	185398643	167	13297											
WFS1	7466	broad.mit.edu	37	chr4	6292992	6292992	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccgacctggagagggccgtgCgcaaggcagccctggtcatg	7	5	16	13	3	1	1	1	0	0	1	1	3	1	1	4	4	2	2	4	4	1	0			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr4:6292992C>T	ENST00000226760.1	+	5	699	c.529C>T	c.(529-531)Cgc>Tgc	p.R177C	WFS1_ENST00000503569.1_Missense_Mutation_p.R177C	NM_001145853.1|NM_006005.3	NP_001139325.1|NP_005996.2	O76024	WFS1_HUMAN	Wolfram syndrome 1 (wolframin)	177					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|calcium ion homeostasis (GO:0055074)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER overload response (GO:0006983)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|glucose homeostasis (GO:0042593)|kidney development (GO:0001822)|negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902236)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of programmed cell death (GO:0043069)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of type B pancreatic cell apoptotic process (GO:2000675)|neurological system process (GO:0050877)|olfactory behavior (GO:0042048)|polyubiquitinated misfolded protein transport (GO:0070845)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of growth (GO:0045927)|positive regulation of protein metabolic process (GO:0051247)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of proteolysis (GO:0045862)|protein maturation by protein folding (GO:0022417)|protein stabilization (GO:0050821)|renal water homeostasis (GO:0003091)|response to endoplasmic reticulum stress (GO:0034976)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)	activating transcription factor binding (GO:0033613)|ATPase binding (GO:0051117)|transporter activity (GO:0005215)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	21				Colorectal(103;0.0512)		GAGGGCCGTGCGCAAGGCAGC	0.612																																						ENST00000226760.1																			0				central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	21						c.(529-531)Cgc>Tgc		Wolfram syndrome 1 (wolframin)							97	83	88					4																	6292992		2203	4300	6503	SO:0001583	missense	7466				endoplasmic reticulum calcium ion homeostasis|endoplasmic reticulum unfolded protein response|ER overload response|ER-associated protein catabolic process|glucose homeostasis|kidney development|negative regulation of neuron apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|polyubiquitinated misfolded protein transport|positive regulation of calcium ion transport|positive regulation of growth|positive regulation of protein ubiquitination|positive regulation of proteolysis|protein stabilization|renal water homeostasis|sensory perception of sound|visual perception	dendrite|integral to endoplasmic reticulum membrane	activating transcription factor binding|ATPase binding|transporter activity|ubiquitin protein ligase binding	g.chr4:6292992C>T	AF084481	CCDS3386.1	4p16.1	2014-06-18			ENSG00000109501	ENSG00000109501			12762	protein-coding gene	gene with protein product		606201		DFNA6, DFNA14, DFNA38		7987399, 9771706	Standard	NM_006005		Approved	DIDMOAD, WFS	uc003gix.3	O76024	OTTHUMG00000090431	ENST00000226760.1:c.529C>T	4.37:g.6292992C>T	ENSP00000226760:p.Arg177Cys					WFS1_ENST00000503569.1_Missense_Mutation_p.R177C	p.R177C	NM_001145853.1|NM_006005.3	NP_001139325.1|NP_005996.2	O76024	WFS1_HUMAN		Colorectal(103;0.0512)	5	699	+			177					B2R797|D3DVT1|Q8N6I3|Q9UNW6	Missense_Mutation	SNP	ENST00000226760.1	37	c.529C>T	CCDS3386.1	.	.	.	.	.	.	.	.	.	.	C	18.10	3.547475	0.65311	.	.	ENSG00000109501	ENST00000503569;ENST00000226760	D;D	0.96073	-3.9;-3.9	4.19	4.19	0.49359	.	0.102848	0.64402	D	0.000009	D	0.97188	0.9081	M	0.79693	2.465	0.58432	D	0.999999	D	0.89917	1.0	D	0.80764	0.994	D	0.97292	0.9925	10	0.87932	D	0	-28.867	10.8683	0.46869	0.3113:0.6887:0.0:0.0	.	177	O76024	WFS1_HUMAN	C	177	ENSP00000423337:R177C;ENSP00000226760:R177C	ENSP00000226760:R177C	R	+	1	0	WFS1	6343893	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.072000	0.41510	2.175000	0.68902	0.561000	0.74099	CGC		0.612	WFS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206863.1			13	55	0	0	0	1	0	13	55					T	6292992	C	T	6292992	3	4	286	1	0	0	0	0	1	0	0	0	17357	768	27	1	543	1	WFS1	4	6292992	Missense_Mutation	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	537359	6292992	184861284	168	13298											
TBC1D14	57533	broad.mit.edu	37	chr4	6925365	6925365	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gagcctgtaccctgcagcgcGgtccacgtgaggaggaagca	9	5	15	12	3	0	1	0	1	0	0	1	4	1	3	3	3	5	3	3	3	2	1			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr4:6925365G>A	ENST00000409757.4	+	2	373	c.249G>A	c.(247-249)gcG>gcA	p.A83A	TBC1D14_ENST00000448507.1_Silent_p.A83A	NM_020773.2	NP_065824.2	Q9P2M4	TBC14_HUMAN	TBC1 domain family, member 14	83					negative regulation of autophagy (GO:0010507)|recycling endosome to Golgi transport (GO:0071955)|regulation of autophagic vacuole assembly (GO:2000785)	autophagic vacuole (GO:0005776)|Golgi apparatus (GO:0005794)|recycling endosome (GO:0055037)	protein kinase binding (GO:0019901)|Rab GTPase activator activity (GO:0005097)			breast(1)|endometrium(5)|large_intestine(4)|lung(9)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	22						CCTGCAGCGCGGTCCACGTGA	0.652																																						ENST00000409757.4																			0				breast(1)|endometrium(5)|large_intestine(4)|lung(9)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	22						c.(247-249)gcG>gcA		TBC1 domain family, member 14							50	56	54					4																	6925365		2203	4300	6503	SO:0001819	synonymous_variant	57533					intracellular	Rab GTPase activator activity	g.chr4:6925365G>A	AL833868	CCDS3394.2, CCDS47006.1, CCDS75104.1	4p16.1	2008-01-22			ENSG00000132405	ENSG00000132405			29246	protein-coding gene	gene with protein product		614855				10718198	Standard	NM_020773		Approved	KIAA1322	uc003gjs.4	Q9P2M4	OTTHUMG00000090493	ENST00000409757.4:c.249G>A	4.37:g.6925365G>A						TBC1D14_ENST00000448507.1_Silent_p.A83A	p.A83A	NM_020773.2	NP_065824.2	Q9P2M4	TBC14_HUMAN			2	373	+			83					B9A6L5|D3DVT4|E9PAZ6|Q8IW15|Q8NDK3	Silent	SNP	ENST00000409757.4	37	c.249G>A	CCDS3394.2																																																																																				0.652	TBC1D14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206981.3	NM_020773		19	79	0	0	0	1	0	19	79					A	6925365	G	A	6925365	2	1	286	1	0	0	0	0	0	0	0	1	15600	1103	39	2		2	TBC1D14	4	6925365	Silent	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	632373	6925365	184228911	169	13299											
BOD1L	259282	broad.mit.edu	37	chr4	13603650	13603650	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagtaggtctgctgctctgTcctcagattcagccacagca	8	10	9	14	0	4	1	2	0	2	1	5	1	5	1	3	1	4	4	3	1	1	2			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr4:13603650T>A	ENST00000040738.5	-	10	5009	c.4874A>T	c.(4873-4875)gAc>gTc	p.D1625V		NM_148894.2	NP_683692.2	Q8NFC6	BD1L1_HUMAN	biorientation of chromosomes in cell division 1-like 1	1625						nucleus (GO:0005634)	DNA binding (GO:0003677)										TGCTGCTCTGTCCTCAGATTC	0.502																																						ENST00000040738.5																			0											c.(4873-4875)gAc>gTc		biorientation of chromosomes in cell division 1-like 1							124	124	124					4																	13603650		2203	4300	6503	SO:0001583	missense	259282						DNA binding	g.chr4:13603650T>A	AF528529	CCDS3411.2	4p16.1	2012-04-10	2012-04-10	2012-04-10	ENSG00000038219	ENSG00000038219			31792	protein-coding gene	gene with protein product			"family with sequence similarity 44, member A", "biorientation of chromosomes in cell division 1-like"	FAM44A, BOD1L			Standard	XM_005248150		Approved	FLJ33215, KIAA1327	uc003gmz.1	Q8NFC6	OTTHUMG00000090659	ENST00000040738.5:c.4874A>T	4.37:g.13603650T>A	ENSP00000040738:p.Asp1625Val						p.D1625V	NM_148894.2	NP_683692.2	Q8NFC6	BOD1L_HUMAN			10	5009	-			1625					Q6P0M8|Q96AL1|Q9H6G0|Q9NTD6|Q9P2L9	Missense_Mutation	SNP	ENST00000040738.5	37	c.4874A>T	CCDS3411.2	.	.	.	.	.	.	.	.	.	.	T	10.90	1.482331	0.26598	.	.	ENSG00000038219	ENST00000040738	T	0.09630	2.96	4.41	1.95	0.26073	.	0.425370	0.21067	N	0.080740	T	0.07954	0.0199	N	0.24115	0.695	0.37755	D	0.9261	P	0.48911	0.917	B	0.43478	0.421	T	0.28170	-1.0052	10	0.72032	D	0.01	-2.2331	7.6149	0.28152	0.0:0.2589:0.0:0.7411	.	1625	Q8NFC6	BOD1L_HUMAN	V	1625	ENSP00000040738:D1625V	ENSP00000040738:D1625V	D	-	2	0	BOD1L	13212748	0.848000	0.29623	0.047000	0.18901	0.238000	0.25445	0.850000	0.27737	0.323000	0.23307	0.528000	0.53228	GAC		0.502	BOD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207321.1	NM_148894		12	83	0	0	0	1	0	12	83					A	13603650	T	A	13603650	3	1	286	1	0	0	0	0	1	0	0	0	1483	1667	58	5	4349	5	BOD1L	4	13603650	Missense_Mutation	SNP	T	TCGA-J9-A52C-01A-11D-A26M-08	6678285	13603650	177550626	170	13300											
GPR125	166647	broad.mit.edu	37	chr4	22389827	22389827	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaactgaacttctaaaggcGccacgtgcattttaatatca	14	11	7	9	2	2	1	1	1	1	0	2	2	2	1	1	1	3	1	1	1	6	5			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr4:22389827G>A	ENST00000334304.5	-	19	3736	c.3467C>T	c.(3466-3468)gCg>gTg	p.A1156V	GPR125_ENST00000282943.5_5'UTR	NM_145290.3	NP_660333.2	Q8IWK6	GP125_HUMAN	G protein-coupled receptor 125	1156					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)	G-protein coupled receptor activity (GO:0004930)			breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(33)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	56		Breast(46;0.198)				TTCTAAAGGCGCCACGTGCAT	0.453																																						ENST00000334304.5																			0				breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(33)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	56						c.(3466-3468)gCg>gTg		G protein-coupled receptor 125							73	73	73					4																	22389827		2203	4300	6503	SO:0001583	missense	166647				neuropeptide signaling pathway	integral to membrane	G-protein coupled receptor activity	g.chr4:22389827G>A	AK095866	CCDS33964.1	4p15.31	2014-08-08			ENSG00000152990	ENSG00000152990		"-", "GPCR / Class B : Orphans", "Immunoglobulin superfamily / I-set domain containing"	13839	protein-coding gene	gene with protein product		612303				12565841	Standard	NM_145290		Approved	FLJ38547, PGR21	uc003gqm.2	Q8IWK6	OTTHUMG00000160926	ENST00000334304.5:c.3467C>T	4.37:g.22389827G>A	ENSP00000334952:p.Ala1156Val					GPR125_ENST00000282943.5_5'UTR	p.A1156V	NM_145290.2	NP_660333.2	Q8IWK6	GP125_HUMAN			19	3736	-		Breast(46;0.198)	1156					Q6UXK9|Q86SQ5|Q8TC55	Missense_Mutation	SNP	ENST00000334304.5	37	c.3467C>T	CCDS33964.1	.	.	.	.	.	.	.	.	.	.	G	17.46	3.394883	0.62066	.	.	ENSG00000152990	ENST00000334304	T	0.55052	0.54	5.64	5.64	0.86602	.	0.050514	0.85682	D	0.000000	T	0.50548	0.1622	M	0.62723	1.935	0.80722	D	1	P;D	0.59357	0.8;0.985	B;B	0.38106	0.209;0.265	T	0.53697	-0.8402	10	0.30078	T	0.28	.	19.7052	0.96069	0.0:0.0:1.0:0.0	.	1013;1156	Q8IWK6-3;Q8IWK6	.;GP125_HUMAN	V	1156	ENSP00000334952:A1156V	ENSP00000334952:A1156V	A	-	2	0	GPR125	21998925	1.000000	0.71417	0.959000	0.39883	0.710000	0.40934	9.225000	0.95219	2.637000	0.89404	0.650000	0.86243	GCG		0.453	GPR125-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362960.3			5	50	0	0	0	1	0	5	50					A	22389827	G	A	22389827	3	1	286	1	0	0	0	0	1	0	0	0	6639	1087	38	1	502	1	GPR125	4	22389827	Missense_Mutation	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	8786177	22389827	168764449	171	13301											
GPR125	166647	broad.mit.edu	37	chr4	22390048	22390048	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	catttgggtgcctctccattCgtcccattagagttgggggg	5	13	13	10	1	1	1	0	0	1	1	4	1	2	1	3	4	1	1	3	4	1	4			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr4:22390048C>T	ENST00000334304.5	-	19	3515	c.3246G>A	c.(3244-3246)acG>acA	p.T1082T	GPR125_ENST00000282943.5_5'UTR	NM_145290.3	NP_660333.2	Q8IWK6	GP125_HUMAN	G protein-coupled receptor 125	1082					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)	G-protein coupled receptor activity (GO:0004930)			breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(33)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	56		Breast(46;0.198)				CCTCTCCATTCGTCCCATTAG	0.502																																						ENST00000334304.5																			0				breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(33)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	56						c.(3244-3246)acG>acA		G protein-coupled receptor 125							64	54	58					4																	22390048		2203	4300	6503	SO:0001819	synonymous_variant	166647				neuropeptide signaling pathway	integral to membrane	G-protein coupled receptor activity	g.chr4:22390048C>T	AK095866	CCDS33964.1	4p15.31	2014-08-08			ENSG00000152990	ENSG00000152990		"-", "GPCR / Class B : Orphans", "Immunoglobulin superfamily / I-set domain containing"	13839	protein-coding gene	gene with protein product		612303				12565841	Standard	NM_145290		Approved	FLJ38547, PGR21	uc003gqm.2	Q8IWK6	OTTHUMG00000160926	ENST00000334304.5:c.3246G>A	4.37:g.22390048C>T						GPR125_ENST00000282943.5_5'UTR	p.T1082T	NM_145290.2	NP_660333.2	Q8IWK6	GP125_HUMAN			19	3515	-		Breast(46;0.198)	1082					Q6UXK9|Q86SQ5|Q8TC55	Silent	SNP	ENST00000334304.5	37	c.3246G>A	CCDS33964.1																																																																																				0.502	GPR125-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362960.3			5	30	0	0	0	1	0	5	30					T	22390048	C	T	22390048	2	4	286	1	0	0	0	0	0	0	0	1	6639	871	31	2		2	GPR125	4	22390048	Silent	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	221	22390048	168764228	172	13302											
CCKAR	886	broad.mit.edu	37	chr4	26483360	26483360	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcccccacctctcccctcGcccctgggggaccaggattg	4	7	9	21	1	1	0	0	0	1	0	4	2	2	2	9	3	0	0	9	3	0	1	rs200308893		TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr4:26483360G>A	ENST00000295589.3	-	5	1381	c.1187C>T	c.(1186-1188)gCg>gTg	p.A396V		NM_000730.2	NP_000721.1	P32238	CCKAR_HUMAN	cholecystokinin A receptor	396					axonogenesis (GO:0007409)|cholecystokinin signaling pathway (GO:0038188)|digestion (GO:0007586)|feeding behavior (GO:0007631)|forebrain development (GO:0030900)|neuron migration (GO:0001764)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|response to nutrient (GO:0007584)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cholecystokinin receptor activity (GO:0004951)			NS(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|pancreas(1)|skin(1)	29		Breast(46;0.0503)			Ceruletide(DB00403)	CTCTCCCCTCGCCCCTGGGGG	0.627																																						ENST00000295589.3																			0				NS(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|pancreas(1)|skin(1)	29						c.(1186-1188)gCg>gTg		cholecystokinin A receptor	Ceruletide(DB00403)						69	73	72					4																	26483360		2203	4300	6503	SO:0001583	missense	886				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|elevation of cytosolic calcium ion concentration|response to nutrient	integral to plasma membrane	cholecystokinin receptor activity	g.chr4:26483360G>A	L19315	CCDS3438.1	4p15.2	2013-09-20			ENSG00000163394	ENSG00000163394		"GPCR / Class A : Cholecystokinin receptors"	1570	protein-coding gene	gene with protein product		118444					Standard	NM_000730		Approved		uc003gse.1	P32238	OTTHUMG00000128567	ENST00000295589.3:c.1187C>T	4.37:g.26483360G>A	ENSP00000295589:p.Ala396Val						p.A396V	NM_000730.2	NP_000721.1	P32238	CCKAR_HUMAN			5	1381	-		Breast(46;0.0503)	396					B2R9Z5	Missense_Mutation	SNP	ENST00000295589.3	37	c.1187C>T	CCDS3438.1	.	.	.	.	.	.	.	.	.	.	G	8.660	0.900431	0.17686	.	.	ENSG00000163394	ENST00000295589	T	0.37235	1.21	5.26	-3.47	0.04753	.	2.032360	0.01754	N	0.030091	T	0.17534	0.0421	N	0.04880	-0.145	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.15037	-1.0451	10	0.18710	T	0.47	.	7.6926	0.28577	0.4989:0.3065:0.1946:0.0	.	396	P32238	CCKAR_HUMAN	V	396	ENSP00000295589:A396V	ENSP00000295589:A396V	A	-	2	0	CCKAR	26092458	0.000000	0.05858	0.000000	0.03702	0.013000	0.08279	-0.970000	0.03810	-0.795000	0.04462	-0.244000	0.11960	GCG		0.627	CCKAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250418.2			17	77	0	0	0	1	0	17	77					A	26483360	G	A	26483360	3	1	286	1	0	0	0	0	1	0	0	0	2880	1087	38	1	103	1	CCKAR	4	26483360	Missense_Mutation	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	4093312	26483360	164670916	173	13303											
WDR19	57728	broad.mit.edu	37	chr4	39230192	39230193	+	Frame_Shift_Del	DEL	AC	AC	-																															atggagagctgacctgccaaAcacagagtggaaaagtaaac																										TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr4:39230192_39230193delAC	ENST00000399820.3	+	17	2018_2019	c.1864_1865delAC	c.(1864-1866)acafs	p.T622fs	WDR19_ENST00000288634.7_Frame_Shift_Del_p.T462fs|WDR19_ENST00000515631.1_3'UTR	NM_025132.3	NP_079408.3	Q8NEZ3	WDR19_HUMAN	WD repeat domain 19	622					ciliary receptor clustering involved in smoothened signaling pathway (GO:0060830)|cilium assembly (GO:0042384)|digestive system development (GO:0055123)|ear morphogenesis (GO:0042471)|embryonic camera-type eye development (GO:0031076)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic limb morphogenesis (GO:0030326)|in utero embryonic development (GO:0001701)|intraciliary retrograde transport (GO:0035721)|myotome development (GO:0061055)|neurological system process (GO:0050877)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|intraciliary transport particle A (GO:0030991)|motile cilium (GO:0031514)|nonmotile primary cilium (GO:0031513)|photoreceptor connecting cilium (GO:0032391)				large_intestine(1)	1						GACCTGCCAAACACAGAGTGGA	0.441																																						ENST00000399820.3																			0				large_intestine(1)	1						c.(1864-1866)afs		WD repeat domain 19																																				SO:0001589	frameshift_variant	57728				cell projection organization	microtubule basal body|motile cilium|photoreceptor connecting cilium	binding	g.chr4:39230192_39230193delAC	AB046858, AY029257	CCDS47042.1	4p14	2014-02-21			ENSG00000157796	ENSG00000157796		"WD repeat domain containing", "Intraflagellar transport homologs"	18340	protein-coding gene	gene with protein product	"intraflagellar transport 144 homolog (Chlamydomonas)"	608151				12906858, 22019273	Standard	XM_005262658		Approved	Pwdmp, KIAA1638, FLJ23127, ORF26, DYF-2, Oseg6, IFT144, NPHP13	uc003gtv.3	Q8NEZ3	OTTHUMG00000160466	ENST00000399820.3:c.1864_1865delAC	4.37:g.39230194_39230195delAC	ENSP00000382717:p.Thr622fs					WDR19_ENST00000288634.7_Frame_Shift_Del_p.T462fs|WDR19_ENST00000515631.1_3'UTR	p.T622fs	NM_025132.3	NP_079408.3	Q8NEZ3	WDR19_HUMAN			17	2018_2019	+			622					B5MEF2|Q8N5B4|Q9H5S0|Q9HCD4	Frame_Shift_Del	DEL	ENST00000399820.3	37	c.1864_1865delAC	CCDS47042.1																																																																																				0.441	WDR19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360689.1			12	72						12	72	---	---	---	---	-	39230193	AC	-	39230192	7	5	286	1	0	1	0	1	0	0	0	0	17276	43	2	0	1930	0	WDR19	4	39230192	Frame_Shift_Del	DEL	AC	TCGA-J9-A52C-01A-11D-A26M-08	12746832	39230192	151924084	174	13304											
CEP135	9662	broad.mit.edu	37	chr4	56840987	56840987	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcgagacaggtcaccttctcGtttagatacatttctgaaag	11	13	8	9	2	3	3	1	1	2	2	5	4	3	3	1	1	1	1	1	1	3	5	rs192961697		TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr4:56840987G>A	ENST00000257287.4	+	11	1449	c.1325G>A	c.(1324-1326)cGt>cAt	p.R442H		NM_025009.4	NP_079285.2	Q66GS9	CP135_HUMAN	centrosomal protein 135kDa	442					centriole replication (GO:0007099)|centriole-centriole cohesion (GO:0010457)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centriole (GO:0005814)|centrosome (GO:0005813)|cytosol (GO:0005829)	protein C-terminus binding (GO:0008022)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(26)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	50	Glioma(25;0.08)|all_neural(26;0.101)					TCACCTTCTCGTTTAGATACA	0.373													G|||	1	0.000199681	8e-04	0	5008	,	,		15847	0		0	False		,,,				2504	0					ENST00000257287.4																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(26)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	50						c.(1324-1326)cGt>cAt		centrosomal protein 135kDa		G	HIS/ARG	0,4406		0,0,2203	87	87	87		1325	5.8	1	4		87	1,8599	1.2+/-3.3	0,1,4299	no	missense	CEP135	NM_025009.3	29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	442/1141	56840987	1,13005	2203	4300	6503	SO:0001583	missense	9662				centriole replication|centriole-centriole cohesion|G2/M transition of mitotic cell cycle	centriole|cytosol	protein C-terminus binding	g.chr4:56840987G>A	AB014535	CCDS33986.1	4q12	2014-02-20	2005-12-02	2005-12-02	ENSG00000174799	ENSG00000174799			29086	protein-coding gene	gene with protein product		611423	"KIAA0635", "centrosomal protein 4"	KIAA0635, CEP4		9734811, 14654843	Standard	NM_025009		Approved	FLJ13621	uc003hbi.4	Q66GS9	OTTHUMG00000160748	ENST00000257287.4:c.1325G>A	4.37:g.56840987G>A	ENSP00000257287:p.Arg442His						p.R442H	NM_025009.4	NP_079285.2	Q66GS9	CP135_HUMAN			11	1449	+	Glioma(25;0.08)|all_neural(26;0.101)		442					B2RMY0|O75130|Q58F25|Q9H8H7	Missense_Mutation	SNP	ENST00000257287.4	37	c.1325G>A	CCDS33986.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	32	5.108271	0.94292	0.0	1.16E-4	ENSG00000174799	ENST00000257287	T	0.47177	0.85	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	T	0.70587	0.3241	M	0.74881	2.28	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.69870	-0.5028	10	0.49607	T	0.09	.	19.9623	0.97256	0.0:0.0:1.0:0.0	.	442	Q66GS9	CP135_HUMAN	H	442	ENSP00000257287:R442H	ENSP00000257287:R442H	R	+	2	0	CEP135	56535744	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.525000	0.81892	2.713000	0.92767	0.455000	0.32223	CGT		0.373	CEP135-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362092.2	NM_025009		4	38	0	0	0	1	0	4	38					A	56840987	G	A	56840987	3	1	286	1	0	0	0	0	1	0	0	0	3247	1145	40	1	1363	1	CEP135	4	56840987	Missense_Mutation	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	17610795	56840987	134313289	175	13305											
TMPRSS11D	9407	broad.mit.edu	37	chr4	68691458	68691458	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcttgagcttacctgacatgCgtccactccaccttgaggta	8	12	8	13	1	1	3	0	3	1	0	3	3	3	3	4	1	3	2	4	1	2	4	rs377401556		TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr4:68691458C>T	ENST00000283916.6	-	9	1185	c.1087G>A	c.(1087-1089)Gca>Aca	p.A363T	TMPRSS11D_ENST00000545541.1_Missense_Mutation_p.A246T|UBA6-AS1_ENST00000500538.2_RNA	NM_004262.2	NP_004253.1	O60235	TM11D_HUMAN	transmembrane protease, serine 11D	363	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				proteolysis (GO:0006508)|respiratory gaseous exchange (GO:0007585)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23						ACCTGACATGCGTCCACTCCA	0.403																																						ENST00000283916.6																			0				cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23						c.(1087-1089)Gca>Aca		transmembrane protease, serine 11D		C	THR/ALA	0,4406		0,0,2203	128	107	114		1087	4.9	1	4		114	1,8597	1.2+/-3.3	0,1,4298	no	missense	TMPRSS11D	NM_004262.2	58	0,1,6501	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	363/419	68691458	1,13003	2203	4299	6502	SO:0001583	missense	9407				proteolysis|respiratory gaseous exchange	extracellular region|integral to plasma membrane	serine-type endopeptidase activity	g.chr4:68691458C>T	AB002134	CCDS3518.1	4q13.2	2010-04-13			ENSG00000153802	ENSG00000153802		"Serine peptidases / Transmembrane"	24059	protein-coding gene	gene with protein product	"airway trypsin like protease"	605369				9565616, 9070615	Standard	XM_005265710		Approved		uc003hdq.3	O60235	OTTHUMG00000129300	ENST00000283916.6:c.1087G>A	4.37:g.68691458C>T	ENSP00000283916:p.Ala363Thr					RP11-453E17.1_ENST00000500538.2_RNA|TMPRSS11D_ENST00000545541.1_Missense_Mutation_p.A246T	p.A363T	NM_004262.2	NP_004253.1	O60235	TM11D_HUMAN			9	1185	-			363			Peptidase S1.		Q08AF6	Missense_Mutation	SNP	ENST00000283916.6	37	c.1087G>A	CCDS3518.1	.	.	.	.	.	.	.	.	.	.	C	16.62	3.173933	0.57692	0.0	1.16E-4	ENSG00000153802	ENST00000283916;ENST00000545541	T;T	0.59502	0.26;0.26	5.78	4.92	0.64577	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.104926	0.42420	D	0.000717	T	0.57932	0.2087	N	0.12182	0.205	0.35990	D	0.836626	D	0.89917	1.0	D	0.91635	0.999	T	0.67879	-0.5556	10	0.48119	T	0.1	.	11.6326	0.51185	0.3232:0.6768:0.0:0.0	.	363	O60235	TM11D_HUMAN	T	363;246	ENSP00000283916:A363T;ENSP00000442045:A246T	ENSP00000283916:A363T	A	-	1	0	TMPRSS11D	68374053	0.998000	0.40836	0.997000	0.53966	0.404000	0.30871	0.737000	0.26144	1.403000	0.46800	0.555000	0.69702	GCA		0.403	TMPRSS11D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251430.3	NM_004262		4	21	0	0	0	1	0	4	21					T	68691458	C	T	68691458	3	4	286	1	0	0	0	0	1	0	0	0	16238	768	27	1	177	1	TMPRSS11D	4	68691458	Missense_Mutation	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	11850471	68691458	122462818	176	13306											
FAT4	79633	broad.mit.edu	37	chr4	126411235	126411235	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgctgtgcattaatcagtggTatgcctacaggtgtgtccct	7	14	11	9	0	1	0	1	0	0	0	2	0	2	0	2	2	4	3	2	2	3	3			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr4:126411235T>C	ENST00000394329.3	+	17	13271	c.13258T>C	c.(13258-13260)Tat>Cat	p.Y4420H	FAT4_ENST00000335110.5_Missense_Mutation_p.Y2661H	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	4420					branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						TAATCAGTGGTATGCCTACAG	0.577																																						ENST00000394329.3																			0				NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						c.(13258-13260)Tat>Cat		FAT atypical cadherin 4							128	124	125					4																	126411235		2203	4300	6503	SO:0001583	missense	79633				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:126411235T>C	AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"Cadherins / Cadherin-related"	23109	protein-coding gene	gene with protein product	"cadherin-related family member 11"	612411	"FAT tumor suppressor homolog 4 (Drosophila)"			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.13258T>C	4.37:g.126411235T>C	ENSP00000377862:p.Tyr4420His					FAT4_ENST00000335110.5_Missense_Mutation_p.Y2661H	p.Y4420H	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN			17	13271	+			4420					A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Missense_Mutation	SNP	ENST00000394329.3	37	c.13258T>C	CCDS3732.3	.	.	.	.	.	.	.	.	.	.	T	12.53	1.967016	0.34754	.	.	ENSG00000196159	ENST00000394329;ENST00000335110	T;T	0.74526	-0.68;-0.85	5.17	2.75	0.32379	.	0.000000	0.31821	U	0.007003	T	0.49830	0.1580	N	0.12182	0.205	0.46298	D	0.998974	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.08055	0.003;0.001;0.003	T	0.25813	-1.0121	10	0.13470	T	0.59	.	7.195	0.25847	0.0:0.2462:0.0:0.7538	.	2661;4420;4419	Q6V0I7-2;Q6V0I7;Q6V0I7-3	.;FAT4_HUMAN;.	H	4420;2661	ENSP00000377862:Y4420H;ENSP00000335169:Y2661H	ENSP00000335169:Y2661H	Y	+	1	0	FAT4	126630685	1.000000	0.71417	0.999000	0.59377	0.985000	0.73830	1.802000	0.38853	0.796000	0.33947	0.459000	0.35465	TAT		0.577	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582		23	129	0	0	0	1	0	23	129					C	126411235	T	C	126411235	3	2	286	1	0	0	0	0	1	0	0	0	5692	1638	57	4	13324	4	FAT4	4	126411235	Missense_Mutation	SNP	T	TCGA-J9-A52C-01A-11D-A26M-08	57719777	126411235	64743041	177	13307											
ARHGAP10	79658	broad.mit.edu	37	chr4	148886179	148886179	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	attttttttttggaagaaagCggcagcccagaatctcgtgt	10	14	10	7	2	1	2	0	0	1	2	2	3	1	3	1	2	2	1	1	2	3	5	rs372408519		TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr4:148886179C>T	ENST00000336498.3	+	17	1694	c.1455C>T	c.(1453-1455)agC>agT	p.S485S	ARHGAP10_ENST00000414545.2_Silent_p.S134S	NM_024605.3	NP_078881.3	Q5T5U3	RHG21_HUMAN	Rho GTPase activating protein 10	1248					establishment of Golgi localization (GO:0051683)|Golgi organization (GO:0007030)|maintenance of Golgi location (GO:0051684)|organelle transport along microtubule (GO:0072384)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)			autonomic_ganglia(2)|endometrium(5)|kidney(2)|large_intestine(4)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	33	all_hematologic(180;0.151)	Renal(17;0.0166)		GBM - Glioblastoma multiforme(119;0.0423)		tGGAAGAAAGCGGCAGCCCAG	0.308																																						ENST00000336498.3																			0				autonomic_ganglia(2)|endometrium(5)|kidney(2)|large_intestine(4)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	33						c.(1453-1455)agC>agT		Rho GTPase activating protein 10		C		0,4406		0,0,2203	53	53	53		1455	-4.6	0.9	4		53	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	ARHGAP10	NM_024605.3		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		485/787	148886179	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	79658				apoptosis|filopodium assembly|regulation of apoptosis|small GTPase mediated signal transduction	cytosol|perinuclear region of cytoplasm|plasma membrane	cytoskeletal adaptor activity|SH3 domain binding	g.chr4:148886179C>T	BC047914	CCDS34075.1	4q31.23	2013-09-20			ENSG00000071205	ENSG00000071205		"Rho GTPase activating proteins"	26099	protein-coding gene	gene with protein product		609746				8288572	Standard	NM_024605		Approved	FLJ20896, FLJ41791, GRAF2	uc003ilf.3	A1A4S6	OTTHUMG00000161460	ENST00000336498.3:c.1455C>T	4.37:g.148886179C>T						ARHGAP10_ENST00000414545.2_Silent_p.S134S	p.S485S	NM_024605.3	NP_078881.3	A1A4S6	RHG10_HUMAN		GBM - Glioblastoma multiforme(119;0.0423)	17	1694	+	all_hematologic(180;0.151)	Renal(17;0.0166)	485			Rho-GAP.		Q0VF98|Q7Z3P7|Q8N3A2|Q8NI19|Q8TBV5|Q9P2C3	Silent	SNP	ENST00000336498.3	37	c.1455C>T	CCDS34075.1	.	.	.	.	.	.	.	.	.	.	C	2.057	-0.416261	0.04766	0.0	1.16E-4	ENSG00000071205	ENST00000507661	.	.	.	5.55	-4.55	0.03441	.	.	.	.	.	T	0.61311	0.2337	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.59762	-0.7393	4	.	.	.	.	12.6457	0.56733	0.0:0.3687:0.0:0.6313	.	.	.	.	W	163	.	.	R	+	1	2	ARHGAP10	149105629	0.994000	0.37717	0.906000	0.35671	0.302000	0.27658	0.191000	0.17076	-1.170000	0.02769	-0.997000	0.02515	CGG		0.308	ARHGAP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365005.1	NM_024605		4	14	0	0	0	1	0	4	14					T	148886179	C	T	148886179	2	4	286	1	0	0	0	0	0	0	0	1	862	767	27	1		1	ARHGAP10	4	148886179	Silent	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	22474944	148886179	42268097	178	13308											
TDO2	6999	broad.mit.edu	37	chr4	156825203	156825203	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aaactccccgtagaaggcagCgaagaagacaaatcacaaac	19	3	8	11	2	1	3	1	0	0	3	2	4	2	3	2	1	3	2	2	1	7	1	rs200196655	byFrequency	TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr4:156825203C>T	ENST00000536354.2	+	2	133	c.69C>T	c.(67-69)agC>agT	p.S23S		NM_005651.3	NP_005642.1			tryptophan 2,3-dioxygenase											breast(3)|endometrium(1)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	18	all_hematologic(180;0.24)	Renal(120;0.0854)		KIRC - Kidney renal clear cell carcinoma(143;0.0455)|Kidney(143;0.0568)|COAD - Colon adenocarcinoma(41;0.141)		TAGAAGGCAGCGAAGAAGACA	0.393													C|||	2	0.000399361	0	0	5008	,	,		17235	0.002		0	False		,,,				2504	0				Colon(57;928 1036 2595 6946 26094)	ENST00000536354.2																			0				breast(3)|endometrium(1)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	18						c.(67-69)agC>agT		tryptophan 2,3-dioxygenase	L-Tryptophan(DB00150)						88	88	88					4																	156825203		2203	4300	6503	SO:0001819	synonymous_variant	6999				tryptophan catabolic process to kynurenine	cytosol	tryptophan 2,3-dioxygenase activity	g.chr4:156825203C>T		CCDS34086.1	4q31-q32	2008-02-05				ENSG00000151790	1.13.11.11		11708	protein-coding gene	gene with protein product		191070					Standard	NM_005651		Approved	TDO, TPH2	uc003ipf.2	P48775		ENST00000536354.2:c.69C>T	4.37:g.156825203C>T							p.S23S	NM_005651.3	NP_005642.1	P48775	T23O_HUMAN		KIRC - Kidney renal clear cell carcinoma(143;0.0455)|Kidney(143;0.0568)|COAD - Colon adenocarcinoma(41;0.141)	2	133	+	all_hematologic(180;0.24)	Renal(120;0.0854)	23						Silent	SNP	ENST00000536354.2	37	c.69C>T	CCDS34086.1																																																																																				0.393	TDO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366209.3	NM_005651		4	30	0	0	0	1	0	4	30					T	156825203	C	T	156825203	2	4	286	1	0	0	0	0	0	0	0	1	15724	767	27	1		1	TDO2	4	156825203	Silent	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	7939024	156825203	34329073	179	13309											
AADAT	51166	broad.mit.edu	37	chr4	170987609	170987609	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccagtattgcatccttctggTtactatagaaatcaataacc	13	13	5	10	0	2	1	1	0	1	1	3	1	3	1	3	1	3	3	3	1	7	7			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr4:170987609T>C	ENST00000337664.4	-	10	1259	c.983A>G	c.(982-984)aAc>aGc	p.N328S	AADAT_ENST00000353187.2_Missense_Mutation_p.N328S|AADAT_ENST00000509167.1_Missense_Mutation_p.N332S|AADAT_ENST00000515480.1_Missense_Mutation_p.N328S	NM_016228.3	NP_057312.1	Q8N5Z0	AADAT_HUMAN	aminoadipate aminotransferase	328					2-oxoglutarate metabolic process (GO:0006103)|biosynthetic process (GO:0009058)|cellular nitrogen compound metabolic process (GO:0034641)|glutamate metabolic process (GO:0006536)|kynurenine metabolic process (GO:0070189)|L-kynurenine metabolic process (GO:0097052)|L-lysine catabolic process to acetyl-CoA via saccharopine (GO:0033512)|lysine catabolic process (GO:0006554)|small molecule metabolic process (GO:0044281)|tryptophan catabolic process (GO:0006569)|tryptophan catabolic process to kynurenine (GO:0019441)	mitochondrial matrix (GO:0005759)	2-aminoadipate transaminase activity (GO:0047536)|kynurenine-oxoglutarate transaminase activity (GO:0016212)|protein homodimerization activity (GO:0042803)|pyridoxal phosphate binding (GO:0030170)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|pancreas(1)|stomach(1)	11		Prostate(90;0.00601)|Renal(120;0.0183)|all_neural(102;0.122)|Melanoma(52;0.17)		GBM - Glioblastoma multiforme(119;0.0355)|LUSC - Lung squamous cell carcinoma(193;0.118)		ATCCTTCTGGTTACTATAGAA	0.403																																						ENST00000337664.4																			0				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|pancreas(1)|stomach(1)	11						c.(982-984)aAc>aGc		aminoadipate aminotransferase	L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)						108	102	104					4																	170987609		2203	4300	6503	SO:0001583	missense	51166				2-oxoglutarate metabolic process|biosynthetic process|glutamate metabolic process|lysine catabolic process	mitochondrial matrix	2-aminoadipate transaminase activity|kynurenine-oxoglutarate transaminase activity|protein homodimerization activity	g.chr4:170987609T>C	AF097994	CCDS3814.1, CCDS75209.1	4q33	2010-12-09			ENSG00000109576	ENSG00000109576	2.6.1.39		17929	protein-coding gene	gene with protein product	"kynurenine aminotransferase II", "L kynurenine/alpha aminoadipate aminotransferase"	611754				12126930, 10441733	Standard	NM_182662		Approved	KATII, KAT2	uc003isr.3	Q8N5Z0	OTTHUMG00000160912	ENST00000337664.4:c.983A>G	4.37:g.170987609T>C	ENSP00000336808:p.Asn328Ser					AADAT_ENST00000515480.1_Missense_Mutation_p.N328S|AADAT_ENST00000509167.1_Missense_Mutation_p.N332S|AADAT_ENST00000353187.2_Missense_Mutation_p.N328S	p.N328S	NM_016228.3	NP_057312.1	Q8N5Z0	AADAT_HUMAN		GBM - Glioblastoma multiforme(119;0.0355)|LUSC - Lung squamous cell carcinoma(193;0.118)	10	1259	-		Prostate(90;0.00601)|Renal(120;0.0183)|all_neural(102;0.122)|Melanoma(52;0.17)	328					B3KP84|Q9UL02	Missense_Mutation	SNP	ENST00000337664.4	37	c.983A>G	CCDS3814.1	.	.	.	.	.	.	.	.	.	.	T	0.126	-1.119473	0.01785	.	.	ENSG00000109576	ENST00000337664;ENST00000515480;ENST00000509167;ENST00000353187	D;D;D;D	0.90197	-2.63;-2.63;-2.63;-2.63	5.5	-4.68	0.03309	Aminotransferase, class I/classII (1);Pyridoxal phosphate-dependent transferase, major region, subdomain 2 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	1.168020	0.06211	N	0.684945	T	0.79118	0.4392	N	0.16656	0.425	0.09310	N	1	B;B	0.06786	0.0;0.001	B;B	0.04013	0.001;0.001	T	0.64309	-0.6438	10	0.14656	T	0.56	-0.0374	8.1535	0.31154	0.0:0.3845:0.2964:0.319	.	332;328	Q8N5Z0-2;Q8N5Z0	.;AADAT_HUMAN	S	328;328;332;328	ENSP00000336808:N328S;ENSP00000423341:N328S;ENSP00000423190:N332S;ENSP00000226840:N328S	ENSP00000336808:N328S	N	-	2	0	AADAT	171224184	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-1.054000	0.03496	-0.798000	0.04444	-0.899000	0.02877	AAC		0.403	AADAT-004	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000362952.1	NM_016228		9	29	0	0	0	1	0	9	29					C	170987609	T	C	170987609	3	2	286	1	0	0	0	0	1	0	0	0	14	1725	60	4	310	4	AADAT	4	170987609	Missense_Mutation	SNP	T	TCGA-J9-A52C-01A-11D-A26M-08	14162406	170987609	20166667	180	13310											
CCDC111	201973	broad.mit.edu	37	chr4	185593424	185593424	+	Frame_Shift_Del	DEL	T	T	-																															acaggccatggatttccccaTttttcagaagcacctgcaag																										TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr4:185593424delT	ENST00000314970.6	+	7	1087	c.654delT	c.(652-654)catfs	p.H218fs	PRIMPOL_ENST00000503752.1_Frame_Shift_Del_p.H218fs|PRIMPOL_ENST00000515774.1_Frame_Shift_Del_p.H89fs|PRIMPOL_ENST00000512834.1_Frame_Shift_Del_p.H218fs	NM_152683.2	NP_689896	Q96LW4	PRIPO_HUMAN	primase and polymerase (DNA-directed)	218					mitochondrial DNA replication (GO:0006264)|replication fork processing (GO:0031297)|response to UV (GO:0009411)|translesion synthesis (GO:0019985)	mitochondrial matrix (GO:0005759)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA primase activity (GO:0003896)|DNA-directed DNA polymerase activity (GO:0003887)|manganese ion binding (GO:0030145)										GATTTCCCCATTTTTCAGAAG	0.408																																						ENST00000314970.6																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|urinary_tract(2)	16						c.(652-654)cafs									89	93	92					4																	185593424		2203	4300	6503	SO:0001589	frameshift_variant	0				DNA replication, synthesis of RNA primer		DNA primase activity	g.chr4:185593424delT	AK057729	CCDS3837.1, CCDS75211.1, CCDS75212.1	4q35.1	2013-09-27	2013-09-27	2013-09-27	ENSG00000164306	ENSG00000164306			26575	protein-coding gene	gene with protein product		615421	"coiled-coil domain containing 111"	CCDC111		12477932	Standard	XM_005262814		Approved	FLJ33167	uc003iwk.2	Q96LW4	OTTHUMG00000160495	ENST00000314970.6:c.654delT	4.37:g.185593424delT	ENSP00000313816:p.His218fs					CCDC111_ENST00000503752.1_Frame_Shift_Del_p.H218fs|CCDC111_ENST00000512834.1_Frame_Shift_Del_p.H218fs|CCDC111_ENST00000515774.1_Frame_Shift_Del_p.H89fs	p.H218fs	NM_152683.2	NP_689896.1	Q96LW4	CC111_HUMAN		all cancers(43;5.84e-27)|Epithelial(43;2.2e-23)|OV - Ovarian serous cystadenocarcinoma(60;4.28e-11)|STAD - Stomach adenocarcinoma(60;2.66e-05)|GBM - Glioblastoma multiforme(59;3.03e-05)|Colorectal(24;7.57e-05)|BRCA - Breast invasive adenocarcinoma(30;0.000249)|COAD - Colon adenocarcinoma(29;0.000502)|LUSC - Lung squamous cell carcinoma(40;0.00995)|READ - Rectum adenocarcinoma(43;0.173)	7	1087	+		all_lung(41;9.65e-12)|Lung NSC(41;1.64e-11)|Colorectal(36;0.00531)|Hepatocellular(41;0.00932)|Renal(120;0.0246)|Prostate(90;0.0283)|all_hematologic(60;0.0749)|all_neural(102;0.131)	218					D3DP55|D6RDM1|Q5HYJ9	Frame_Shift_Del	DEL	ENST00000314970.6	37	c.654delT	CCDS3837.1																																																																																				0.408	PRIMPOL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000360827.1	NM_152683		9	64						9	64	---	---	---	---	-	185593424	T	-	185593424	7	5	286	1	0	1	0	1	0	0	0	0	2748	1490	52	0	672	0	CCDC111	4	185593424	Frame_Shift_Del	DEL	T	TCGA-J9-A52C-01A-11D-A26M-08	14605815	185593424	5560852	181	13311											
AHRR	57491	broad.mit.edu	37	chr5	428070	428070	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagatgaaaatgaggagcgCgctcctgagggcaaaaccca	14	4	14	9	2	0	4	0	3	0	1	1	6	1	5	2	3	2	2	2	3	4	0	rs201183475	byFrequency	TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr5:428070C>T	ENST00000505113.1	+	8	913	c.869C>T	c.(868-870)gCg>gTg	p.A290V	AHRR_ENST00000506456.1_Missense_Mutation_p.A146V|AHRR_ENST00000316418.5_Missense_Mutation_p.A308V|AHRR_ENST00000512529.1_Missense_Mutation_p.A136V	NM_001242412.1	NP_001229341.1	A9YTQ3	AHRR_HUMAN	aryl-hydrocarbon receptor repressor	290					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of protein sumoylation (GO:0033235)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|signal transducer activity (GO:0004871)			breast(2)|endometrium(4)|large_intestine(1)|lung(12)|prostate(1)	20			Epithelial(17;0.0011)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00354)|Lung(60;0.0863)			ATGAGGAGCGCGCTCCTGAGG	0.652													c|||	2	0.000399361	0.0015	0	5008	,	,		16068	0		0	False		,,,				2504	0					ENST00000316418.5																			0				breast(2)|endometrium(4)|large_intestine(1)|lung(12)|prostate(1)	20						c.(922-924)gCg>gTg		aryl-hydrocarbon receptor repressor			VAL/ALA,VAL/ALA	3,4051		0,3,2024	26	31	30		869,923	1.6	0	5		30	0,8346		0,0,4173	yes	missense,missense	AHRR	NM_001242412.1,NM_020731.4	64,64	0,3,6197	TT,TC,CC		0.0,0.074,0.0242	benign,benign	290/702,308/720	428070	3,12397	2027	4173	6200	SO:0001583	missense	57491				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity	g.chr5:428070C>T	AB033060	CCDS43297.1, CCDS56355.1	5p15.33	2013-05-21	2003-09-11	2003-09-12	ENSG00000063438	ENSG00000063438		"Basic helix-loop-helix proteins"	346	protein-coding gene	gene with protein product		606517	"aryl hydrocarbon receptor regulator"	AHH, AHHR		1070014, 11423533	Standard	NM_020731		Approved	KIAA1234, bHLHe77	uc003jaw.3	A9YTQ3	OTTHUMG00000162171	ENST00000505113.1:c.869C>T	5.37:g.428070C>T	ENSP00000424601:p.Ala290Val					AHRR_ENST00000506456.1_Missense_Mutation_p.A146V|AHRR_ENST00000505113.1_Missense_Mutation_p.A290V|AHRR_ENST00000512529.1_Missense_Mutation_p.A136V	p.A308V	NM_020731.4	NP_065782.2	A9YTQ3	AHRR_HUMAN	Epithelial(17;0.0011)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00354)|Lung(60;0.0863)		9	967	+			290					A7MBN5|D6RAZ1|Q9HAZ3|Q9ULI6	Missense_Mutation	SNP	ENST00000505113.1	37	c.923C>T	CCDS56355.1	.	.	.	.	.	.	.	.	.	.	c	2.826	-0.243746	0.05906	7.4E-4	0.0	ENSG00000063438	ENST00000505113;ENST00000316418;ENST00000512529;ENST00000506456;ENST00000511487	T;T;T;T;T	0.41065	2.41;2.42;2.1;2.09;1.01	4.88	1.61	0.23674	.	0.622040	0.17753	N	0.163167	T	0.17959	0.0431	N	0.17379	0.485	0.09310	N	1	B;B;B	0.30021	0.102;0.088;0.265	B;B;B	0.24006	0.013;0.022;0.05	T	0.22312	-1.0220	10	0.06757	T	0.87	.	5.4364	0.16484	0.0:0.4707:0.0:0.5293	.	146;290;308	D6RE68;A9YTQ3;A9YTQ3-2	.;AHRR_HUMAN;.	V	290;308;136;146;13	ENSP00000424601:A290V;ENSP00000323816:A308V;ENSP00000424880:A136V;ENSP00000426932:A146V;ENSP00000426076:A13V	ENSP00000323816:A308V	A	+	2	0	AHRR	481070	0.038000	0.19896	0.000000	0.03702	0.002000	0.02628	2.628000	0.46477	0.474000	0.27392	0.580000	0.79431	GCG		0.652	AHRR-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000367720.1	NM_020731		5	27	0	0	0	1	0	5	27					T	428070	C	T	428070	3	4	286	1	0	0	0	0	1	0	0	0	417	768	27	1	957	1	AHRR	5	428070	Missense_Mutation	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08		428070	180487190	182	13312											
DNAH5	1767	broad.mit.edu	37	chr5	13839629	13839629	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tccatgggactcttgatatgCatatgacactgaaattcaaa	14	12	7	8	0	2	3	1	3	1	0	3	4	3	4	1	1	1	1	1	1	4	4			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr5:13839629C>T	ENST00000265104.4	-	35	5822	c.5718G>A	c.(5716-5718)atG>atA	p.M1906I		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	1906	Stem. {ECO:0000250}.				cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TCTTGATATGCATATGACACT	0.353									Kartagener syndrome																													ENST00000265104.4																			0				NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378						c.(5716-5718)atG>atA		dynein, axonemal, heavy chain 5							71	68	69					5																	13839629		2203	4300	6503	SO:0001583	missense	1767	Kartagener syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr5:13839629C>T	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"Axonemal dyneins"	2950	protein-coding gene	gene with protein product	"dynein heavy chain 5"	603335	"dynein, axonemal, heavy polypeptide 5"			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.5718G>A	5.37:g.13839629C>T	ENSP00000265104:p.Met1906Ile						p.M1906I	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN			35	5822	-	Lung NSC(4;0.00476)		1906			Stem (By similarity).		Q92860|Q96L74|Q9H5S7|Q9HCG9	Missense_Mutation	SNP	ENST00000265104.4	37	c.5718G>A	CCDS3882.1	.	.	.	.	.	.	.	.	.	.	C	14.26	2.481256	0.44147	.	.	ENSG00000039139	ENST00000265104	T	0.22743	1.94	4.93	4.93	0.64822	.	0.104213	0.64402	D	0.000006	T	0.26412	0.0645	M	0.64676	1.99	0.53688	D	0.999972	B	0.12013	0.005	B	0.19946	0.027	T	0.03761	-1.1006	10	0.35671	T	0.21	.	17.1545	0.86787	0.0:1.0:0.0:0.0	.	1906	Q8TE73	DYH5_HUMAN	I	1906	ENSP00000265104:M1906I	ENSP00000265104:M1906I	M	-	3	0	DNAH5	13892629	1.000000	0.71417	0.997000	0.53966	0.869000	0.49853	4.037000	0.57311	2.300000	0.77407	0.650000	0.86243	ATG		0.353	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369		7	33	0	0	0	1	0	7	33					T	13839629	C	T	13839629	3	4	286	1	0	0	0	0	1	0	0	0	4604	710	25	3	8336	3	DNAH5	5	13839629	Missense_Mutation	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	13411559	13839629	167075631	183	13313											
TRIO	7204	broad.mit.edu	37	chr5	14504649	14504649	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctccagcaccccctgcttgtCggcctcctcgacacctttga	5	10	7	19	2	0	1	0	1	0	0	4	2	2	1	6	1	2	2	6	1	0	2			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr5:14504649C>T	ENST00000344204.4	+	55	8583	c.8559C>T	c.(8557-8559)gtC>gtT	p.V2853V	TRIO_ENST00000537187.1_Silent_p.V2677V|TRIO_ENST00000344135.5_Silent_p.V352V	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	2853	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	cytosol (GO:0005829)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.V2853V(1)		NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					CCCTGCTTGTCGGCCTCCTCG	0.587																																						ENST00000344204.4																			1	Substitution - coding silent(1)	p.V2853V(1)	large_intestine(1)	NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118						c.(8557-8559)gtC>gtT		trio Rho guanine nucleotide exchange factor							179	180	180					5																	14504649		2203	4300	6503	SO:0001819	synonymous_variant	7204				apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity	g.chr5:14504649C>T	AF091395	CCDS3883.1	5p14-p15.1	2013-01-11	2012-07-12		ENSG00000038382	ENSG00000038382		"Rho guanine nucleotide exchange factors", "Immunoglobulin superfamily / I-set domain containing"	12303	protein-coding gene	gene with protein product		601893	"triple functional domain (PTPRF interacting)"			8643598	Standard	NM_007118		Approved	ARHGEF23	uc003jff.3	O75962	OTTHUMG00000131057	ENST00000344204.4:c.8559C>T	5.37:g.14504649C>T						TRIO_ENST00000344135.5_Silent_p.V352V|TRIO_ENST00000537187.1_Silent_p.V2677V	p.V2853V	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN			55	8583	+	Lung NSC(4;0.000742)		2853			Protein kinase.		D3DTD1|Q13458|Q59EQ7|Q6PJC9|Q6ZN05|Q8IWK8	Silent	SNP	ENST00000344204.4	37	c.8559C>T	CCDS3883.1																																																																																				0.587	TRIO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253711.2	NM_007118		43	233	0	0	0	1	0	43	233					T	14504649	C	T	14504649	2	4	286	1	0	0	0	0	0	0	0	1	16549	871	31	2		2	TRIO	5	14504649	Silent	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	665020	14504649	166410611	184	13314											
HTR1A	3350	broad.mit.edu	37	chr5	63256285	63256285	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tactcctccgtcatcactggCggcagaacttacacttaatg	10	11	7	13	2	2	1	2	0	0	1	4	1	4	1	2	2	3	1	2	2	4	3			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr5:63256285C>T	ENST00000323865.3	-	1	1495	c.1262G>A	c.(1261-1263)cGc>cAc	p.R421H	RP11-158J3.2_ENST00000502882.1_RNA	NM_000524.3	NP_000515.2	P08908	5HT1A_HUMAN	5-hydroxytryptamine (serotonin) receptor 1A, G protein-coupled	421					adenylate cyclase-inhibiting serotonin receptor signaling pathway (GO:0007198)|behavioral fear response (GO:0001662)|cell proliferation (GO:0008283)|exploration behavior (GO:0035640)|G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cell proliferation (GO:0008284)|regulation of behavior (GO:0050795)|regulation of dopamine metabolic process (GO:0042053)|regulation of hormone secretion (GO:0046883)|regulation of serotonin secretion (GO:0014062)|serotonin metabolic process (GO:0042428)|serotonin receptor signaling pathway (GO:0007210)|vasoconstriction (GO:0042310)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	serotonin receptor activity (GO:0004993)			cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(29)|ovary(2)|pancreas(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	56		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234)		Lung(70;0.105)	Acepromazine(DB01614)|Alprenolol(DB00866)|Alverine(DB01616)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bopindolol(DB08807)|Bromocriptine(DB01200)|Buspirone(DB00490)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Cinitapride(DB08810)|Clozapine(DB00363)|Desipramine(DB01151)|Dopamine(DB00988)|Doxepin(DB01142)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Iloperidone(DB04946)|Imipramine(DB00458)|Ketamine(DB01221)|Lisuride(DB00589)|Loxapine(DB00408)|Lurasidone(DB08815)|Methysergide(DB00247)|Mianserin(DB06148)|Molindone(DB01618)|Naratriptan(DB00952)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Ondansetron(DB00904)|Paliperidone(DB01267)|Penbutolol(DB01359)|Pergolide(DB01186)|Pindolol(DB00960)|Pipotiazine(DB01621)|Pramipexole(DB00413)|Propranolol(DB00571)|Quetiapine(DB01224)|Risperidone(DB00734)|Ropinirole(DB00268)|Rotigotine(DB05271)|Sumatriptan(DB00669)|Thioproperazine(DB01622)|Trazodone(DB00656)|Trimipramine(DB00726)|Vilazodone(DB06684)|Yohimbine(DB01392)|Ziprasidone(DB00246)|Zolmitriptan(DB00315)	TCATCACTGGCGGCAGAACTT	0.483																																						ENST00000323865.3																			0				cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(29)|ovary(2)|pancreas(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	56						c.(1261-1263)cGc>cAc		5-hydroxytryptamine (serotonin) receptor 1A, G protein-coupled	Alprenolol(DB00866)|Aripiprazole(DB01238)|Buspirone(DB00490)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Fluvoxamine(DB00176)|Lisuride(DB00589)|Methysergide(DB00247)|Mirtazapine(DB00370)|Pindolol(DB00960)|Propranolol(DB00571)|Quetiapine(DB01224)|Sertraline(DB01104)|Tegaserod(DB01079)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246)						157	168	164					5																	63256285		2203	4300	6503	SO:0001583	missense	3350				behavior|positive regulation of cell proliferation	integral to plasma membrane	serotonin receptor activity	g.chr5:63256285C>T	AF498978	CCDS34168.1	5q11.2-q13	2012-08-08	2012-02-03			ENSG00000178394		"5-HT (serotonin) receptors", "GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"	5286	protein-coding gene	gene with protein product		109760	"5-hydroxytryptamine (serotonin) receptor 1A"	ADRB2RL1, ADRBRL1		2591972, 12969265	Standard	NM_000524		Approved	5-HT1A	uc011cqt.3	P08908		ENST00000323865.3:c.1262G>A	5.37:g.63256285C>T	ENSP00000316244:p.Arg421His					RP11-158J3.2_ENST00000502882.1_RNA	p.R421H	NM_000524.3	NP_000515.2	P08908	5HT1A_HUMAN		Lung(70;0.105)	1	1495	-		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234)	421					Q6LAE7	Missense_Mutation	SNP	ENST00000323865.3	37	c.1262G>A	CCDS34168.1	.	.	.	.	.	.	.	.	.	.	C	18.04	3.535253	0.64972	.	.	ENSG00000178394	ENST00000323865	T	0.40225	1.04	5.81	5.81	0.92471	.	0.000000	0.85682	D	0.000000	T	0.50429	0.1615	L	0.42245	1.32	0.58432	D	0.999996	D	0.89917	1.0	P	0.56088	0.791	T	0.49283	-0.8956	10	0.66056	D	0.02	.	14.2713	0.66154	0.0:0.9271:0.0:0.0729	.	421	P08908	5HT1A_HUMAN	H	421	ENSP00000316244:R421H	ENSP00000316244:R421H	R	-	2	0	HTR1A	63292041	1.000000	0.71417	1.000000	0.80357	0.546000	0.35178	2.439000	0.44846	2.747000	0.94245	0.650000	0.86243	CGC		0.483	HTR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368397.1	NM_000524		31	142	0	0	0	1	0	31	142					T	63256285	C	T	63256285	3	4	286	1	0	0	0	0	1	0	0	0	7436	768	27	1	9	1	HTR1A	5	63256285	Missense_Mutation	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	48751636	63256285	117658975	185	13315											
ADAMTS6	11174	broad.mit.edu	37	chr5	64748629	64748629	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	taccaatgtctccacaaaccGttcaatgctcactgatctct	11	12	4	14	1	4	1	2	1	2	0	6	1	4	1	3	0	3	2	3	0	4	2	rs148384415		TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr5:64748629G>A	ENST00000536360.1	-	5	1561	c.748C>T	c.(748-750)Cgg>Tgg	p.R250W				Q9UKP5	ATS6_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 6	250	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.					proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|skin(3)	18		Lung NSC(167;2.44e-06)|Prostate(74;0.014)|Ovarian(174;0.0549)|Breast(144;0.111)|Colorectal(97;0.235)		Lung(70;0.00942)		TCCACAAACCGTTCAATGCTC	0.418																																						ENST00000536360.1																			0				breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|skin(3)	18						c.(748-750)Cgg>Tgg		ADAM metallopeptidase with thrombospondin type 1 motif, 6		G	TRP/ARG	0,4406		0,0,2203	209	181	191		748	4.6	1	5	dbSNP_134	191	1,8599	1.2+/-3.3	0,1,4299	no	missense	ADAMTS6	NM_197941.2	101	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	250/1118	64748629	1,13005	2203	4300	6503	SO:0001583	missense	11174				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:64748629G>A	AF140674	CCDS3983.2	5q13	2008-07-18	2005-08-19		ENSG00000049192	ENSG00000049192		"ADAM metallopeptidases with thrombospondin type 1 motif"	222	protein-coding gene	gene with protein product	"a disintegrin and metalloproteinase with thrombospondin motifs 6"	605008	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 6"			10464288	Standard	NM_197941		Approved	ADAM-TS6	uc003jtp.3	Q9UKP5	OTTHUMG00000074079	ENST00000536360.1:c.748C>T	5.37:g.64748629G>A	ENSP00000440995:p.Arg250Trp						p.R250W			Q9UKP5	ATS6_HUMAN		Lung(70;0.00942)	5	1561	-		Lung NSC(167;2.44e-06)|Prostate(74;0.014)|Ovarian(174;0.0549)|Breast(144;0.111)|Colorectal(97;0.235)	250			Peptidase M12B.		Q59EX6|Q5IR87|Q5IR88|Q5IR89|Q68DL1	Missense_Mutation	SNP	ENST00000536360.1	37	c.748C>T		.	.	.	.	.	.	.	.	.	.	G	21.0	4.085193	0.76642	0.0	1.16E-4	ENSG00000049192	ENST00000381055;ENST00000261306;ENST00000464680;ENST00000536360	T;T;T	0.70045	-0.45;-0.45;-0.45	5.49	4.6	0.57074	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.000000	0.85682	D	0.000000	D	0.83538	0.5276	M	0.86343	2.81	0.80722	D	1	D	0.89917	1.0	D	0.76071	0.987	D	0.86685	0.1919	10	0.72032	D	0.01	.	15.2239	0.73336	0.0:0.0:0.8541:0.1459	.	250	Q9UKP5	ATS6_HUMAN	W	250	ENSP00000370443:R250W;ENSP00000423551:R250W;ENSP00000440995:R250W	ENSP00000261306:R250W	R	-	1	2	ADAMTS6	64784385	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.583000	0.74053	1.251000	0.43983	0.563000	0.77884	CGG		0.418	ADAMTS6-201	KNOWN	basic	protein_coding	protein_coding		NM_197941		16	64	0	0	0	1	0	16	64					A	64748629	G	A	64748629	3	1	286	1	0	0	0	0	1	0	0	0	270	1144	40	1	2689	1	ADAMTS6	5	64748629	Missense_Mutation	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	1492344	64748629	116166631	186	13316											
PIK3R1	5295	broad.mit.edu	37	chr5	67588988	67588988	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gacctttttggtacgagatgCgtctactaaaatgcatggtg	10	13	11	7	2	1	1	0	0	1	1	1	3	1	1	1	2	4	2	1	2	4	5			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr5:67588988C>T	ENST00000521381.1	+	9	1695	c.1079C>T	c.(1078-1080)gCg>gTg	p.A360V	PIK3R1_ENST00000521657.1_Missense_Mutation_p.A360V|PIK3R1_ENST00000274335.5_Missense_Mutation_p.A360V|PIK3R1_ENST00000320694.8_Missense_Mutation_p.A60V|PIK3R1_ENST00000396611.1_Missense_Mutation_p.A360V|PIK3R1_ENST00000523872.1_5'UTR|PIK3R1_ENST00000336483.5_Missense_Mutation_p.A90V	NM_181523.2	NP_852664.1	P27986	P85A_HUMAN	phosphoinositide-3-kinase, regulatory subunit 1 (alpha)	360	SH2 1. {ECO:0000255|PROSITE- ProRule:PRU00191}.				B cell differentiation (GO:0030183)|blood coagulation (GO:0007596)|cellular response to UV (GO:0034644)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|growth hormone receptor signaling pathway (GO:0060396)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|leukocyte migration (GO:0050900)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of osteoclast differentiation (GO:0045671)|neurotrophin TRK receptor signaling pathway (GO:0048011)|NFAT protein import into nucleus (GO:0051531)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of cell migration (GO:0030335)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of glucose import (GO:0046326)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|protein phosphorylation (GO:0006468)|regulation of phosphatidylinositol 3-kinase activity (GO:0043551)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|membrane (GO:0016020)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	ErbB-3 class receptor binding (GO:0043125)|insulin binding (GO:0043559)|insulin receptor binding (GO:0005158)|insulin receptor substrate binding (GO:0043560)|insulin-like growth factor receptor binding (GO:0005159)|neurotrophin TRKA receptor binding (GO:0005168)|phosphatidylinositol 3-kinase binding (GO:0043548)|phosphatidylinositol 3-kinase regulator activity (GO:0035014)|protein phosphatase binding (GO:0019903)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)	p.0?(1)|p.?(1)		breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	Isoprenaline(DB01064)	GTACGAGATGCGTCTACTAAA	0.368			"Mis, F, O"		"gliobastoma, ovarian, colorectal"					TCGA GBM(4;<1E-08)																												ENST00000521381.1				Rec	yes		5	5q13.1	5295	"Mis, F, O"	"phosphoinositide-3-kinase, regulatory subunit 1 (alpha)"			"E, O"			"gliobastoma, ovarian, colorectal"		2	Whole gene deletion(1)|Unknown(1)	p.0?(1)|p.?(1)	large_intestine(1)|lung(1)	breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178						c.(1078-1080)gCg>gTg		phosphoinositide-3-kinase, regulatory subunit 1 (alpha)	Isoproterenol(DB01064)						94	94	94					5																	67588988		2203	4300	6503	SO:0001583	missense	5295				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex	1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding	g.chr5:67588988C>T	M61906	CCDS3993.1, CCDS3994.1, CCDS3995.1, CCDS56374.1	5q13.1	2014-09-17	2008-02-04		ENSG00000145675	ENSG00000145675		"SH2 domain containing"	8979	protein-coding gene	gene with protein product		171833				1314371, 18387942	Standard	NM_181524		Approved	GRB1, p85-ALPHA, p85	uc003jva.3	P27986	OTTHUMG00000131251	ENST00000521381.1:c.1079C>T	5.37:g.67588988C>T	ENSP00000428056:p.Ala360Val	TCGA GBM(4;<1E-08)				PIK3R1_ENST00000274335.5_Missense_Mutation_p.A360V|PIK3R1_ENST00000396611.1_Missense_Mutation_p.A360V|PIK3R1_ENST00000523872.1_5'UTR|PIK3R1_ENST00000521657.1_Missense_Mutation_p.A360V|PIK3R1_ENST00000336483.5_Missense_Mutation_p.A90V|PIK3R1_ENST00000320694.8_Missense_Mutation_p.A60V	p.A360V	NM_181523.2	NP_852664.1	P27986	P85A_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	9	1695	+		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)	360			SH2 1.		B3KT19|D3DWA0|E7EX19|Q15747|Q4VBZ7|Q53EM6|Q8IXA2|Q8N1C5	Missense_Mutation	SNP	ENST00000521381.1	37	c.1079C>T	CCDS3993.1	.	.	.	.	.	.	.	.	.	.	C	35	5.533224	0.96460	.	.	ENSG00000145675	ENST00000521381;ENST00000521657;ENST00000396611;ENST00000274335;ENST00000523807;ENST00000522084;ENST00000320694;ENST00000336483;ENST00000519025	D;D;D;D;D;D;D;D;D	0.88975	-2.45;-2.45;-2.45;-2.45;-2.45;-2.45;-2.45;-2.45;-2.45	5.11	5.11	0.69529	SH2 motif (5);	0.050162	0.85682	D	0.000000	D	0.95506	0.8540	M	0.89214	3.015	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.85130	0.993;0.993;0.993;0.997	D	0.95831	0.8858	10	0.87932	D	0	-19.7485	19.0871	0.93209	0.0:1.0:0.0:0.0	.	30;90;60;360	B7Z2N8;P27986-2;P27986-3;P27986	.;.;.;P85A_HUMAN	V	360;360;360;360;90;90;60;90;33	ENSP00000428056:A360V;ENSP00000429277:A360V;ENSP00000379855:A360V;ENSP00000274335:A360V;ENSP00000430126:A90V;ENSP00000429766:A90V;ENSP00000323512:A60V;ENSP00000338554:A90V;ENSP00000429156:A33V	ENSP00000274335:A360V	A	+	2	0	PIK3R1	67624744	1.000000	0.71417	0.927000	0.36925	0.920000	0.55202	7.609000	0.82925	2.821000	0.97095	0.484000	0.47621	GCG		0.368	PIK3R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254013.2	NM_181504		3	24	0	0	0	1	0	3	24					T	67588988	C	T	67588988	3	4	286	1	0	0	0	0	1	0	0	0	11918	768	27	1	1239	1	PIK3R1	5	67588988	Missense_Mutation	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	2840359	67588988	113326272	187	13317											
F2R	2149	broad.mit.edu	37	chr5	76028839	76028839	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtgctcaatgaaaccctgctCgaaggctactatgcctacta	11	10	8	12	1	1	1	1	1	0	0	2	2	1	1	2	1	6	3	2	1	7	4			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr5:76028839C>T	ENST00000319211.4	+	2	1054	c.789C>T	c.(787-789)ctC>ctT	p.L263L		NM_001992.3	NP_001983.2	P25116	PAR1_HUMAN	coagulation factor II (thrombin) receptor	263					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of MAPKK activity (GO:0000186)|anatomical structure morphogenesis (GO:0009653)|blood coagulation (GO:0007596)|connective tissue replacement involved in inflammatory response wound healing (GO:0002248)|establishment of synaptic specificity at neuromuscular junction (GO:0007529)|G-protein coupled receptor signaling pathway (GO:0007186)|homeostasis of number of cells within a tissue (GO:0048873)|inflammatory response (GO:0006954)|negative regulation of cell proliferation (GO:0008285)|negative regulation of glomerular filtration (GO:0003105)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of renin secretion into blood stream (GO:1900134)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|platelet activation (GO:0030168)|platelet dense granule organization (GO:0060155)|positive regulation of blood coagulation (GO:0030194)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-6 secretion (GO:2000778)|positive regulation of interleukin-8 secretion (GO:2000484)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of Rho protein signal transduction (GO:0035025)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of vasoconstriction (GO:0045907)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of blood coagulation (GO:0030193)|regulation of interleukin-1 beta production (GO:0032651)|regulation of sensory perception of pain (GO:0051930)|release of sequestered calcium ion into cytosol (GO:0051209)|response to lipopolysaccharide (GO:0032496)|response to wounding (GO:0009611)|STAT protein import into nucleus (GO:0007262)|tyrosine phosphorylation of STAT protein (GO:0007260)	caveola (GO:0005901)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|platelet dense tubular network (GO:0031094)|postsynaptic membrane (GO:0045211)	G-protein alpha-subunit binding (GO:0001965)|G-protein beta-subunit binding (GO:0031681)|G-protein coupled receptor activity (GO:0004930)|receptor binding (GO:0005102)|thrombin receptor activity (GO:0015057)			NS(1)|breast(1)|endometrium(3)|kidney(1)|lung(7)|ovary(3)	16		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Prostate(461;0.00955)|Ovarian(174;0.0129)		all cancers(79;4.43e-43)	Streptokinase(DB00086)	AAACCCTGCTCGAAGGCTACT	0.507																																						ENST00000319211.4																			0				NS(1)|breast(1)|endometrium(3)|kidney(1)|lung(7)|ovary(3)	16						c.(787-789)ctC>ctT		coagulation factor II (thrombin) receptor	Streptokinase(DB00086)						127	130	129					5																	76028839		2203	4300	6503	SO:0001819	synonymous_variant	2149				activation of caspase activity|anatomical structure morphogenesis|connective tissue replacement involved in inflammatory response wound healing|negative regulation of cell proliferation|platelet activation|positive regulation of blood coagulation|positive regulation of cell migration|positive regulation of collagen biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of JAK-STAT cascade|positive regulation of MAPKKK cascade|positive regulation of release of sequestered calcium ion into cytosol|positive regulation of transcription, DNA-dependent|STAT protein import into nucleus|tyrosine phosphorylation of STAT protein	caveola|extracellular region|Golgi apparatus|integral to plasma membrane|platelet dense tubular network	receptor binding|thrombin receptor activity	g.chr5:76028839C>T	M62424	CCDS4032.1	5q13	2012-08-08			ENSG00000181104	ENSG00000181104		"GPCR / Class A : Protease activated receptors"	3537	protein-coding gene	gene with protein product		187930				8395910	Standard	NM_001992		Approved	TR, CF2R, PAR1, PAR-1	uc003ken.4	P25116	OTTHUMG00000131299	ENST00000319211.4:c.789C>T	5.37:g.76028839C>T							p.L263L	NM_001992.3	NP_001983.2	P25116	PAR1_HUMAN		all cancers(79;4.43e-43)	2	1054	+		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Prostate(461;0.00955)|Ovarian(174;0.0129)	263					Q53XV0|Q96RF7|Q9BUN4	Silent	SNP	ENST00000319211.4	37	c.789C>T	CCDS4032.1																																																																																				0.507	F2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254068.2			4	58	0	0	0	1	0	4	58					T	76028839	C	T	76028839	2	4	286	1	0	0	0	0	0	0	0	1	5343	871	31	2		2	F2R	5	76028839	Silent	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	8439851	76028839	104886421	188	13318											
SLCO4C1	353189	broad.mit.edu	37	chr5	101576467	101576467	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tattcccaaggctagggaccGttgtctgtgattaacacacc	10	11	9	11	1	1	1	0	1	1	0	2	2	2	2	3	2	1	2	3	2	4	5	rs374536178		TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr5:101576467G>A	ENST00000310954.6	-	11	2117	c.1831C>T	c.(1831-1833)Cgg>Tgg	p.R611W		NM_180991.4	NP_851322.3			solute carrier organic anion transporter family, member 4C1											breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	50		all_cancers(142;1.86e-08)|all_epithelial(76;5.24e-12)|Prostate(80;0.00124)|Colorectal(57;0.00332)|Ovarian(225;0.024)|Lung NSC(167;0.0402)|all_lung(232;0.0486)		Epithelial(69;4.07e-14)|COAD - Colon adenocarcinoma(37;0.00986)		GCTAGGGACCGTTGTCTGTGA	0.338																																						ENST00000310954.6																			0				breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	50						c.(1831-1833)Cgg>Tgg		solute carrier organic anion transporter family, member 4C1		G	TRP/ARG	0,4406		0,0,2203	131	140	137		1831	6	0.3	5		137	1,8595	1.2+/-3.3	0,1,4297	no	missense	SLCO4C1	NM_180991.4	101	0,1,6500	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	611/725	101576467	1,13001	2203	4298	6501	SO:0001583	missense	353189				cell differentiation|multicellular organismal development|sodium-independent organic anion transport|spermatogenesis	basolateral plasma membrane|integral to membrane	sodium-independent organic anion transmembrane transporter activity	g.chr5:101576467G>A	AY273896	CCDS34205.1	5q21	2013-05-22	2003-11-25		ENSG00000173930	ENSG00000173930		"Solute carriers"	23612	protein-coding gene	gene with protein product		609013					Standard	NM_180991		Approved	SLC21A20, OATP4C1, OATPX, OATP-H	uc003knm.3	Q6ZQN7	OTTHUMG00000162757	ENST00000310954.6:c.1831C>T	5.37:g.101576467G>A	ENSP00000309741:p.Arg611Trp						p.R611W	NM_180991.4	NP_851322.3	Q6ZQN7	SO4C1_HUMAN		Epithelial(69;4.07e-14)|COAD - Colon adenocarcinoma(37;0.00986)	11	2117	-		all_cancers(142;1.86e-08)|all_epithelial(76;5.24e-12)|Prostate(80;0.00124)|Colorectal(57;0.00332)|Ovarian(225;0.024)|Lung NSC(167;0.0402)|all_lung(232;0.0486)	611						Missense_Mutation	SNP	ENST00000310954.6	37	c.1831C>T	CCDS34205.1	.	.	.	.	.	.	.	.	.	.	G	16.94	3.261188	0.59431	0.0	1.16E-4	ENSG00000173930	ENST00000310954	T	0.50548	0.74	5.96	5.96	0.96718	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.64402	D	0.000013	T	0.76026	0.3930	M	0.93898	3.47	0.32241	N	0.57269	D	0.89917	1.0	D	0.91635	0.999	D	0.84319	0.0515	10	0.87932	D	0	.	13.8945	0.63764	0.0:0.0:0.8477:0.1523	.	611	Q6ZQN7	SO4C1_HUMAN	W	611	ENSP00000309741:R611W	ENSP00000309741:R611W	R	-	1	2	SLCO4C1	101604366	0.980000	0.34600	0.263000	0.24496	0.635000	0.38103	3.947000	0.56652	2.832000	0.97577	0.655000	0.94253	CGG		0.338	SLCO4C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370332.1	NM_180991		18	67	0	0	0	1	0	18	67					A	101576467	G	A	101576467	3	1	286	1	0	0	0	0	1	0	0	0	14730	1144	40	1	355	1	SLCO4C1	5	101576467	Missense_Mutation	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	25547628	101576467	79338793	189	13319											
TRIM36	55521	broad.mit.edu	37	chr5	114466495	114466495	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagcaagcagaagattaaaTccagctctactctctacacg	14	8	7	12	1	2	2	0	0	2	2	4	2	3	2	1	0	5	4	1	0	6	3			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr5:114466495T>A	ENST00000282369.3	-	9	1747	c.1626A>T	c.(1624-1626)ggA>ggT	p.G542G	TRIM36_ENST00000513154.1_Silent_p.G530G|TRIM36_ENST00000514154.1_Silent_p.G387G	NM_018700.3	NP_061170.2	Q9NQ86	TRI36_HUMAN	tripartite motif containing 36	542	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				acrosome reaction (GO:0007340)|regulation of cell cycle (GO:0051726)	acrosomal vesicle (GO:0001669)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	37		all_cancers(142;0.00133)|all_epithelial(76;2.41e-05)|Prostate(80;0.00955)|Ovarian(225;0.0443)|Breast(839;0.195)		OV - Ovarian serous cystadenocarcinoma(64;3.62e-08)|Epithelial(69;7.69e-08)|all cancers(49;9.33e-06)		GAAGATTAAATCCAGCTCTAC	0.398																																						ENST00000513154.1																			0				breast(3)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	37						c.(1588-1590)ggA>ggT		tripartite motif containing 36							142	136	138					5																	114466495		2202	4300	6502	SO:0001819	synonymous_variant	55521					acrosomal vesicle|cytoskeleton	ligase activity|zinc ion binding	g.chr5:114466495T>A	AJ272269	CCDS4115.1, CCDS34211.1, CCDS34212.1, CCDS75287.1	5q22	2013-02-11	2011-01-25		ENSG00000152503	ENSG00000152503		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers", "Fibronectin type III domain containing"	16280	protein-coding gene	gene with protein product	"zinc-binding protein Rbcc728", "tripartite motif protein 36", "RING finger protein 98"	609317	"tripartite motif-containing 36"			11331580	Standard	XM_005272031		Approved	RBCC728, RNF98, HAPRIN	uc003kqs.3	Q9NQ86	OTTHUMG00000128892	ENST00000282369.3:c.1626A>T	5.37:g.114466495T>A						TRIM36_ENST00000514154.1_Silent_p.G387G|TRIM36_ENST00000282369.3_Silent_p.G542G	p.G530G			Q9NQ86	TRI36_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;3.62e-08)|Epithelial(69;7.69e-08)|all cancers(49;9.33e-06)	9	1916	-		all_cancers(142;0.00133)|all_epithelial(76;2.41e-05)|Prostate(80;0.00955)|Ovarian(225;0.0443)|Breast(839;0.195)	542			B30.2/SPRY.		A1L3Z1|A6NDD0|B7Z3V4|B7ZAV7|E9PFI8|Q0P5Z9	Silent	SNP	ENST00000282369.3	37	c.1590A>T	CCDS4115.1																																																																																				0.398	TRIM36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250854.2	NM_018700		10	53	0	0	0	1	0	10	53					A	114466495	T	A	114466495	2	1	286	1	0	0	0	0	0	0	0	1	16507	1422	50	5		5	TRIM36	5	114466495	Silent	SNP	T	TCGA-J9-A52C-01A-11D-A26M-08	12890028	114466495	66448765	190	13320											
DMXL1	1657	broad.mit.edu	37	chr5	118487710	118487710	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	caacttcccttccagcctatCgagctcaactccttcaccaa	10	10	3	18	1	2	0	2	0	0	0	6	1	5	0	5	0	4	1	5	0	4	4			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr5:118487710C>T	ENST00000311085.8	+	19	4761	c.4681C>T	c.(4681-4683)Cga>Tga	p.R1561*	MIR5706_ENST00000579841.1_RNA|DMXL1_ENST00000539542.1_Nonsense_Mutation_p.R1561*	NM_005509.4	NP_005500.4	Q9Y485	DMXL1_HUMAN	Dmx-like 1	1561										breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)	86		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)		TCCAGCCTATCGAGCTCAACT	0.383																																						ENST00000311085.8																			0				breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)	86						c.(4681-4683)Cga>Tga		Dmx-like 1							162	150	154					5																	118487710		2202	4300	6502	SO:0001587	stop_gained	1657							g.chr5:118487710C>T	AJ005821	CCDS4125.1, CCDS75289.1	5q22	2013-01-10			ENSG00000172869	ENSG00000172869		"WD repeat domain containing"	2937	protein-coding gene	gene with protein product		605671				10708522	Standard	NM_005509		Approved		uc003ksd.2	Q9Y485	OTTHUMG00000128898	ENST00000311085.8:c.4681C>T	5.37:g.118487710C>T	ENSP00000309690:p.Arg1561*					DMXL1_ENST00000539542.1_Nonsense_Mutation_p.R1561*	p.R1561*	NM_005509.4	NP_005500.4	Q9Y485	DMXL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)	19	4761	+		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)	1561						Nonsense_Mutation	SNP	ENST00000311085.8	37	c.4681C>T	CCDS4125.1	.	.	.	.	.	.	.	.	.	.	C	44	11.176240	0.99526	.	.	ENSG00000172869	ENST00000311085;ENST00000539542	.	.	.	5.68	4.8	0.61643	.	0.133712	0.52532	D	0.000076	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-8.0131	13.261	0.60104	0.4084:0.5916:0.0:0.0	.	.	.	.	X	1561	.	ENSP00000309690:R1561X	R	+	1	2	DMXL1	118515609	0.829000	0.29322	1.000000	0.80357	0.976000	0.68499	0.239000	0.18023	1.349000	0.45751	0.563000	0.77884	CGA		0.383	DMXL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250862.1	NM_005509		5	46	0	0	0	1	0	5	46					T	118487710	C	T	118487710	4	4	286	1	0	0	0	0	0	1	0	0	4594	876	31	2	4755	2	DMXL1	5	118487710	Nonsense_Mutation	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	4021215	118487710	62427550	191	13321											
PHF15	23338	broad.mit.edu	37	chr5	133896555	133896555	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggctgggcatcgagtacgacGaggatgttgtctgcgacgtg	7	9	17	8	5	1	0	0	0	1	0	2	5	1	1	0	3	2	4	0	3	1	2			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr5:133896555G>A	ENST00000402835.1	+	6	847	c.592G>A	c.(592-594)Gag>Aag	p.E198K	PHF15_ENST00000282605.4_Missense_Mutation_p.E198K|PHF15_ENST00000361895.2_Missense_Mutation_p.E198K|PHF15_ENST00000395003.1_Missense_Mutation_p.E198K																NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	22			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CGAGTACGACGAGGATGTTGT	0.592																																						ENST00000395003.1																			0				NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	22						c.(592-594)Gag>Aag									220	169	186					5																	133896555		2203	4300	6503	SO:0001583	missense	0				histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation	histone acetyltransferase complex	zinc ion binding	g.chr5:133896555G>A																												ENST00000402835.1:c.592G>A	5.37:g.133896555G>A	ENSP00000384671:p.Glu198Lys					PHF15_ENST00000282605.4_Missense_Mutation_p.E198K|PHF15_ENST00000402835.1_Missense_Mutation_p.E198K|PHF15_ENST00000361895.2_Missense_Mutation_p.E198K	p.E198K	NM_015288.4	NP_056103.4	Q9NQC1	JADE2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		6	771	+			198						Missense_Mutation	SNP	ENST00000402835.1	37	c.592G>A		.	.	.	.	.	.	.	.	.	.	G	26.4	4.738249	0.89573	.	.	ENSG00000043143	ENST00000413974;ENST00000448712;ENST00000282605;ENST00000361895;ENST00000432594;ENST00000402835;ENST00000395003;ENST00000431355	D;D;D;D;D	0.87966	-2.32;-2.32;-2.32;-2.32;-2.32	5.97	5.97	0.96955	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, FYVE/PHD-type (1);	0.000000	0.85682	D	0.000000	D	0.93543	0.7939	M	0.76574	2.34	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;0.999;1.0	D;D;D;D;D	0.77004	0.986;0.989;0.986;0.982;0.986	D	0.93487	0.6832	10	0.87932	D	0	.	19.4161	0.94700	0.0:0.0:1.0:0.0	.	198;198;198;198;214	Q9NQC1;B5MBX1;D3DQA3;Q9NQC1-3;B3KPL2	JADE2_HUMAN;.;.;.;.	K	198;214;198;198;198;198;198;198	ENSP00000282605:E198K;ENSP00000354425:E198K;ENSP00000384671:E198K;ENSP00000378451:E198K;ENSP00000406189:E198K	ENSP00000282605:E198K	E	+	1	0	PHF15	133924454	1.000000	0.71417	0.969000	0.41365	0.032000	0.12392	9.869000	0.99810	2.837000	0.97791	0.655000	0.94253	GAG		0.592	PHF15-007	PUTATIVE	alternative_5_UTR|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000318543.1			11	53	0	0	0	1	0	11	53					A	133896555	G	A	133896555	3	1	286	1	0	0	0	0	1	0	0	0	11826	1059	37	2	610	2	PHF15	5	133896555	Missense_Mutation	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	15408845	133896555	47018705	192	13322											
KLHL3	26249	broad.mit.edu	37	chr5	136969760	136969760	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgggtgctcatgtccgccacGtatatccattcattggtcgc	6	12	10	13	4	2	0	2	0	0	0	5	0	4	0	3	2	1	2	3	2	2	4			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr5:136969760G>A	ENST00000309755.4	-	12	1859	c.1416C>T	c.(1414-1416)taC>taT	p.Y472Y	KLHL3_ENST00000506491.1_Silent_p.Y390Y|KLHL3_ENST00000508657.1_Silent_p.Y440Y|KLHL3_ENST00000506873.1_5'UTR|KLHL3_ENST00000541417.1_Intron	NM_017415.2	NP_059111.2	Q9UH77	KLHL3_HUMAN	kelch-like family member 3	472					distal tubule morphogenesis (GO:0072156)|ion homeostasis (GO:0050801)|protein K48-linked ubiquitination (GO:0070936)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|renal sodium ion absorption (GO:0070294)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)	structural molecule activity (GO:0005198)			breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|stomach(1)|upper_aerodigestive_tract(1)	21		all_hematologic(541;3.67e-07)|Breast(839;7.61e-05)|Prostate(281;0.000825)|Ovarian(839;0.0481)|all_lung(232;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)	GBM - Glioblastoma multiforme(465;0.0223)		TGTCCGCCACGTATATCCATT	0.537																																						ENST00000508657.1																			0				breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|stomach(1)|upper_aerodigestive_tract(1)	21						c.(1318-1320)taC>taT		kelch-like family member 3							122	113	116					5																	136969760		2203	4300	6503	SO:0001819	synonymous_variant	26249					cytoplasm|cytoskeleton	actin binding|structural molecule activity	g.chr5:136969760G>A	AB032955	CCDS4192.1, CCDS58969.1, CCDS58970.1	5q31	2013-01-30	2013-01-30		ENSG00000146021	ENSG00000146021		"Kelch-like", "BTB/POZ domain containing"	6354	protein-coding gene	gene with protein product		605775	"kelch (Drosophila)-like 3", "kelch-like 3 (Drosophila)"			10843806	Standard	NM_017415		Approved	KIAA1129	uc010jek.3	Q9UH77	OTTHUMG00000129155	ENST00000309755.4:c.1416C>T	5.37:g.136969760G>A						KLHL3_ENST00000541417.1_Intron|KLHL3_ENST00000506491.1_Silent_p.Y390Y|KLHL3_ENST00000506873.1_5'UTR|KLHL3_ENST00000309755.4_Silent_p.Y472Y	p.Y440Y	NM_001257194.1	NP_001244123.1	Q9UH77	KLHL3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)	GBM - Glioblastoma multiforme(465;0.0223)	12	2034	-		all_hematologic(541;3.67e-07)|Breast(839;7.61e-05)|Prostate(281;0.000825)|Ovarian(839;0.0481)|all_lung(232;0.198)	472					B2RBK7|Q9UH75|Q9UH76|Q9ULU0|Q9Y6V6	Silent	SNP	ENST00000309755.4	37	c.1320C>T	CCDS4192.1																																																																																				0.537	KLHL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251220.2			13	83	0	0	0	1	0	13	83					A	136969760	G	A	136969760	2	1	286	1	0	0	0	0	0	0	0	1	8383	1140	40	1		1	KLHL3	5	136969760	Silent	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	3073205	136969760	43945500	193	13323											
KDM3B	51780	broad.mit.edu	37	chr5	137727927	137727927	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaagcaggcccccaagggccGgcctcggactgcccccctga	7	3	13	18	2	0	1	0	1	0	0	1	3	0	2	7	4	2	1	7	4	2	0			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr5:137727927G>A	ENST00000314358.5	+	8	2806	c.2606G>A	c.(2605-2607)cGg>cAg	p.R869Q	KDM3B_ENST00000394866.1_Missense_Mutation_p.R525Q|KDM3B_ENST00000542866.1_Intron	NM_016604.3	NP_057688	Q7LBC6	KDM3B_HUMAN	lysine (K)-specific demethylase 3B	869					chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(15)|liver(2)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	65						CCCAAGGGCCGGCCTCGGACT	0.607																																						ENST00000314358.5																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(15)|liver(2)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	65						c.(2605-2607)cGg>cAg		lysine (K)-specific demethylase 3B							27	33	31					5																	137727927		2187	4289	6476	SO:0001583	missense	51780				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr5:137727927G>A	AF251039	CCDS34242.1	5q31	2011-07-01	2009-04-06	2009-04-06	ENSG00000120733	ENSG00000120733		"Chromatin-modifying enzymes / K-demethylases"	1337	protein-coding gene	gene with protein product		609373	"chromosome 5 open reading frame 7", "jumonji domain containing 1B"	C5orf7, JMJD1B		15138608	Standard	NM_016604		Approved	KIAA1082, NET22	uc003lcy.1	Q7LBC6	OTTHUMG00000163469	ENST00000314358.5:c.2606G>A	5.37:g.137727927G>A	ENSP00000326563:p.Arg869Gln					KDM3B_ENST00000394866.1_Missense_Mutation_p.R525Q|KDM3B_ENST00000542866.1_Intron	p.R869Q	NM_016604.3	NP_057688.2	Q7LBC6	KDM3B_HUMAN			8	2806	+			869					A6H8X7|Q9BVH6|Q9BW93|Q9BZ52|Q9NYF4|Q9UPS0	Missense_Mutation	SNP	ENST00000314358.5	37	c.2606G>A	CCDS34242.1	.	.	.	.	.	.	.	.	.	.	G	19.82	3.898674	0.72639	.	.	ENSG00000120733	ENST00000314358;ENST00000545151;ENST00000394866	T;T	0.73681	-0.23;-0.77	5.97	5.97	0.96955	.	0.000000	0.85682	D	0.000000	T	0.80314	0.4600	L	0.51422	1.61	0.80722	D	1	D;D	0.76494	0.989;0.999	P;P	0.58970	0.738;0.849	T	0.72754	-0.4198	10	0.11794	T	0.64	-16.2759	20.4062	0.99009	0.0:0.0:1.0:0.0	.	525;869	Q7LBC6-2;Q7LBC6	.;KDM3B_HUMAN	Q	869;659;525	ENSP00000326563:R869Q;ENSP00000378335:R525Q	ENSP00000326563:R869Q	R	+	2	0	KDM3B	137755826	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.624000	0.74243	2.831000	0.97527	0.655000	0.94253	CGG		0.607	KDM3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373597.1	NM_016604		8	52	0	0	0	1	0	8	52					A	137727927	G	A	137727927	3	1	286	1	0	0	0	0	1	0	0	0	8127	1116	39	2	2636	2	KDM3B	5	137727927	Missense_Mutation	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	758167	137727927	43187333	194	13324											
PCDHA5	56143	broad.mit.edu	37	chr5	140203082	140203082	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgagtgggtggcaccggcggCgcagtgagcgagctggtgcc	5	5	20	11	5	0	1	0	1	0	0	0	3	0	1	2	5	3	3	2	5	0	0			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr5:140203082C>T	ENST00000529859.1	+	1	1722	c.1722C>T	c.(1720-1722)ggC>ggT	p.G574G	PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529619.1_Silent_p.G574G|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000378126.3_Silent_p.G574G	NM_018908.2	NP_061731.1	Q9Y5H7	PCDA5_HUMAN	protocadherin alpha 5	574					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(3)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCACCGGCGGCGCAGTGAGCG	0.682																																						ENST00000529859.1																			0				NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(3)	60						c.(1720-1722)ggC>ggT									43	51	48					5																	140203082		2202	4298	6500	SO:0001819	synonymous_variant	0							g.chr5:140203082C>T	AF152483	CCDS54917.1	5q31	2010-11-26				ENSG00000204965		"Cadherins / Protocadherins : Clustered"	8671	other	complex locus constituent	"ortholog of mouse CNR6", "KIAA0345-like 9"	606311		CNRS6		10380929, 10662547	Standard	NM_018908		Approved	CNR6, CRNR6, CNRN6, PCDH-ALPHA5		Q9Y5H7		ENST00000529859.1:c.1722C>T	5.37:g.140203082C>T						PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000378126.3_Silent_p.G574G|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Silent_p.G574G|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron	p.G574G	NM_018908.2	NP_061731.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1722	+								O75284|Q8N4R3	Silent	SNP	ENST00000529859.1	37	c.1722C>T	CCDS54917.1																																																																																				0.682	PCDHA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372883.2	NM_018908		8	99	0	0	0	1	0	8	99					T	140203082	C	T	140203082	2	4	286	1	0	0	0	0	0	0	0	1	11527	755	27	1		1	PCDHA5	5	140203082	Silent	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	2475155	140203082	40712178	195	13325											
PCDHA8	56140	broad.mit.edu	37	chr5	140222184	140222184	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctatgagttggtggtaacCgcgcgggacgggggctcgcc	5	7	18	11	5	0	1	0	1	0	0	1	2	0	2	3	5	1	3	3	5	2	3			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr5:140222184C>T	ENST00000531613.1	+	1	1278	c.1278C>T	c.(1276-1278)acC>acT	p.T426T	PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA8_ENST00000378123.3_Silent_p.T426T|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron	NM_018911.2	NP_061734.1	Q9Y5H6	PCDA8_HUMAN	protocadherin alpha 8	426	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(2)|breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(31)|ovary(2)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(6)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGTGGTAACCGCGCGGGACG	0.637																																						ENST00000531613.1																			0				NS(2)|breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(31)|ovary(2)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(6)	78						c.(1276-1278)acC>acT									87	79	82					5																	140222184		2195	4264	6459	SO:0001819	synonymous_variant	0							g.chr5:140222184C>T	AF152486	CCDS54919.1	5q31	2010-11-26				ENSG00000204962		"Cadherins / Protocadherins : Clustered"	8674	other	complex locus constituent	"KIAA0345-like 6"	606314				10380929	Standard	NM_018911		Approved			Q9Y5H6		ENST00000531613.1:c.1278C>T	5.37:g.140222184C>T						PCDHA1_ENST00000394633.3_Intron|PCDHA8_ENST00000378123.3_Silent_p.T426T|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron	p.T426T	NM_018911.2	NP_061734.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1278	+								B9EGT7|O75281	Silent	SNP	ENST00000531613.1	37	c.1278C>T	CCDS54919.1																																																																																				0.637	PCDHA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372830.2	NM_018911		22	135	0	0	0	1	0	22	135					T	140222184	C	T	140222184	2	4	286	1	0	0	0	0	0	0	0	1	11530	639	23	2		2	PCDHA8	5	140222184	Silent	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	19102	140222184	40693076	196	13326											
PCDHAC2	56134	broad.mit.edu	37	chr5	140348548	140348548	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgagcatcatcaagtgctacCgctacactgcgtatggcact	10	10	9	12	2	2	1	2	1	0	0	2	1	2	1	1	1	5	5	1	1	4	3			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr5:140348548C>T	ENST00000289269.5	+	1	2729	c.2197C>T	c.(2197-2199)Cgc>Tgc	p.R733C	PCDHA6_ENST00000529310.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHAC1_ENST00000253807.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529859.1_Intron	NM_018899.5|NM_031883.2	NP_061722.1|NP_114089.1	Q9Y5I4	PCDC2_HUMAN	protocadherin alpha subfamily C, 2	733					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAAGTGCTACCGCTACACTGC	0.408																																					Melanoma(190;638 2083 3390 11909 52360)	ENST00000289269.5																			0				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45						c.(2197-2199)Cgc>Tgc									83	81	82					5																	140348548		2203	4300	6503	SO:0001583	missense	0				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	g.chr5:140348548C>T	AF152474	CCDS4242.1	5q31	2010-11-26			ENSG00000243232	ENSG00000243232		"Cadherins / Protocadherins : Clustered"	8677	other	complex locus constituent		606321				10380929	Standard	NM_031883		Approved	PCDH-ALPHA-C2		Q9Y5I4	OTTHUMG00000129607	ENST00000289269.5:c.2197C>T	5.37:g.140348548C>T	ENSP00000289269:p.Arg733Cys					PCDHA1_ENST00000504120.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHAC1_ENST00000253807.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA12_ENST00000398631.2_Intron	p.R733C	NM_018899.5|NM_031883.2	NP_061722.1|NP_114089.1	Q9Y5I4	PCDC2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2729	+			733					Q2M3V1|Q9Y5F4	Missense_Mutation	SNP	ENST00000289269.5	37	c.2197C>T	CCDS4242.1	.	.	.	.	.	.	.	.	.	.	C	14.87	2.663529	0.47572	.	.	ENSG00000243232	ENST00000289269	T	0.23147	1.92	5.66	5.66	0.87406	.	0.527099	0.16044	N	0.232266	T	0.32763	0.0840	M	0.68952	2.095	0.46167	D	0.998907	B;D	0.62365	0.364;0.991	B;B	0.44315	0.056;0.446	T	0.15178	-1.0446	10	0.72032	D	0.01	.	12.7891	0.57522	0.2728:0.7272:0.0:0.0	.	733;733	Q9Y5I4-2;Q9Y5I4	.;PCDC2_HUMAN	C	733	ENSP00000289269:R733C	ENSP00000289269:R733C	R	+	1	0	PCDHAC2	140328732	0.914000	0.31030	0.988000	0.46212	0.991000	0.79684	1.673000	0.37534	2.680000	0.91292	0.561000	0.74099	CGC		0.408	PCDHAC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251802.2	NM_018899		8	27	0	0	0	1	0	8	27					T	140348548	C	T	140348548	3	4	286	1	0	0	0	0	1	0	0	0	11533	652	23	2	2199	2	PCDHAC2	5	140348548	Missense_Mutation	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	126364	140348548	40566712	197	13327											
PCDHB7	56129	broad.mit.edu	37	chr5	140552513	140552513	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctggcgccgaaccgcttcggTattttgtggcggaggaaacc	7	9	14	11	5	0	0	0	0	0	0	1	3	0	2	3	5	2	2	3	5	3	4			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr5:140552513T>C	ENST00000231137.3	+	1	271	c.97T>C	c.(97-99)Tat>Cat	p.Y33H		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN	protocadherin beta 7	33					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACCGCTTCGGTATTTTGTGGC	0.517																																						ENST00000231137.3																			0				NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						c.(97-99)Tat>Cat									142	130	134					5																	140552513		2203	4300	6503	SO:0001583	missense	0				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140552513T>C	AF152500	CCDS4249.1	5q31	2010-01-26			ENSG00000113212	ENSG00000113212		"Cadherins / Protocadherins : Clustered"	8692	other	protocadherin		606333				10380929	Standard	NM_018940		Approved	PCDH-BETA7	uc003lit.3	Q9Y5E2	OTTHUMG00000129608	ENST00000231137.3:c.97T>C	5.37:g.140552513T>C	ENSP00000231137:p.Tyr33His						p.Y33H	NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	271	+			33					A1L3Y8	Missense_Mutation	SNP	ENST00000231137.3	37	c.97T>C	CCDS4249.1	.	.	.	.	.	.	.	.	.	.	T	18.59	3.657808	0.67586	.	.	ENSG00000113212	ENST00000231137	T	0.58060	0.36	4.79	4.79	0.61399	Cadherin, N-terminal (1);	.	.	.	.	D	0.82701	0.5094	H	0.98370	4.215	0.40951	D	0.984547	D	0.89917	1.0	D	0.97110	1.0	D	0.89887	0.4034	9	0.87932	D	0	.	14.2828	0.66224	0.0:0.0:0.0:1.0	.	33	Q9Y5E2	PCDB7_HUMAN	H	33	ENSP00000231137:Y33H	ENSP00000231137:Y33H	Y	+	1	0	PCDHB7	140532697	1.000000	0.71417	0.976000	0.42696	0.761000	0.43186	7.651000	0.83577	1.909000	0.55274	0.533000	0.62120	TAT		0.517	PCDHB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251803.2	NM_018940		11	42	0	0	0	1	0	11	42					C	140552513	T	C	140552513	3	2	286	1	0	0	0	0	1	0	0	0	11547	1638	57	4	99	4	PCDHB7	5	140552513	Missense_Mutation	SNP	T	TCGA-J9-A52C-01A-11D-A26M-08	203965	140552513	40362747	198	13328											
PCDHGB2	56103	broad.mit.edu	37	chr5	140741805	140741805	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gccttggccttgatctcagtGctcttcttcctcgcggtgat	3	15	10	13	2	3	2	1	2	3	0	6	2	4	2	3	2	1	1	3	2	0	4			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr5:140741805G>A	ENST00000522605.1	+	1	2103	c.2103G>A	c.(2101-2103)gtG>gtA	p.V701V	PCDHGB1_ENST00000523390.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA5_ENST00000518069.1_5'Flank|PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron	NM_018923.2|NM_032096.1	NP_061746.1|NP_115267.1	Q9Y5G2	PCDGE_HUMAN	protocadherin gamma subfamily B, 2	701					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	14			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGATCTCAGTGCTCTTCTTCC	0.577																																						ENST00000522605.1																			0				endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	14						c.(2101-2103)gtG>gtA									96	99	98					5																	140741805		2048	4193	6241	SO:0001819	synonymous_variant	0							g.chr5:140741805G>A	AF152331	CCDS54924.1, CCDS75332.1	5q31	2010-01-26				ENSG00000253910		"Cadherins / Protocadherins : Clustered"	8709	other	protocadherin		606300				10380929	Standard	NM_018923		Approved	PCDH-GAMMA-B2		Q9Y5G2		ENST00000522605.1:c.2103G>A	5.37:g.140741805G>A						PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron	p.V701V	NM_018923.2|NM_032096.1	NP_061746.1|NP_115267.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2103	+								Q3MIJ3|Q9UN65	Silent	SNP	ENST00000522605.1	37	c.2103G>A	CCDS54924.1																																																																																				0.577	PCDHGB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374741.1	NM_018923		21	67	0	0	0	1	0	21	67					A	140741805	G	A	140741805	2	1	286	1	0	0	0	0	0	0	0	1	11563	1306	46	3		3	PCDHGB2	5	140741805	Silent	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	189292	140741805	40173455	199	13329											
PCDHGA5	56110	broad.mit.edu	37	chr5	140744399	140744399	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atgtgggtgtgaactctctcCggagttaccagctcagctcc	7	11	11	12	1	2	1	1	1	1	0	5	2	4	2	3	2	4	3	3	2	2	1	rs538468873		TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr5:140744399C>T	ENST00000518069.1	+	1	502	c.502C>T	c.(502-504)Cgg>Tgg	p.R168W	PCDHGB1_ENST00000523390.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron	NM_018918.2|NM_032054.1	NP_061741.1|NP_114443.1	Q9Y5G8	PCDG5_HUMAN	protocadherin gamma subfamily A, 5	168	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|upper_aerodigestive_tract(3)	18			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAACTCTCTCCGGAGTTACCA	0.512																																						ENST00000518069.1																			0				endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|upper_aerodigestive_tract(3)	18						c.(502-504)Cgg>Tgg									53	56	55					5																	140744399		2024	4186	6210	SO:0001583	missense	0							g.chr5:140744399C>T	AF152512	CCDS54925.1, CCDS75333.1	5q31	2010-01-26				ENSG00000253485		"Cadherins / Protocadherins : Clustered"	8703	other	protocadherin	"cadherin ME3"	606292				10380929	Standard	NM_018918		Approved	CDH-GAMMA-A5, ME3, PCDH-GAMMA-A5		Q9Y5G8		ENST00000518069.1:c.502C>T	5.37:g.140744399C>T	ENSP00000429834:p.Arg168Trp					PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron	p.R168W	NM_018918.2|NM_032054.1	NP_061741.1|NP_114443.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	502	+								Q2M3F5|Q9Y5D2	Missense_Mutation	SNP	ENST00000518069.1	37	c.502C>T	CCDS54925.1	.	.	.	.	.	.	.	.	.	.	.	16.17	3.047650	0.55110	.	.	ENSG00000253485	ENST00000518069	T	0.51574	0.7	5.31	5.31	0.75309	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.63379	0.2506	M	0.68317	2.08	0.28346	N	0.921137	D;D	0.54397	0.958;0.966	P;P	0.58970	0.764;0.849	T	0.60362	-0.7278	9	0.87932	D	0	.	13.8617	0.63564	0.1529:0.8471:0.0:0.0	.	168;168	Q9Y5G8-2;Q9Y5G8	.;PCDG5_HUMAN	W	168	ENSP00000429834:R168W	ENSP00000429834:R168W	R	+	1	2	PCDHGA5	140724583	0.000000	0.05858	0.989000	0.46669	0.416000	0.31233	0.237000	0.17985	2.628000	0.89032	0.563000	0.77884	CGG		0.512	PCDHGA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374742.1	NM_018918		3	26	0	0	0	1	0	3	26					T	140744399	C	T	140744399	3	4	286	1	0	0	0	0	1	0	0	0	11557	643	23	2	504	2	PCDHGA5	5	140744399	Missense_Mutation	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	2594	140744399	40170861	200	13330											
PCDHGB3	56102	broad.mit.edu	37	chr5	140751254	140751254	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	accgacaaaggcaatccaccGctctcctccagcaagaccat	13	5	6	17	2	1	1	0	0	1	1	4	2	3	1	6	1	1	3	6	1	3	0	rs201325462	byFrequency	TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr5:140751254G>A	ENST00000576222.1	+	1	1424	c.1293G>A	c.(1291-1293)ccG>ccA	p.P431P	PCDHGB1_ENST00000523390.1_Intron|PCDHGA6_ENST00000517434.1_5'Flank|PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron	NM_018924.2|NM_032097.1	NP_061747.1|NP_115268.1	Q9Y5G1	PCDGF_HUMAN	protocadherin gamma subfamily B, 3	431	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCAATCCACCGCTCTCCTCCA	0.527																																						ENST00000576222.1																			0				endometrium(1)|kidney(1)|lung(3)	5						c.(1291-1293)ccG>ccA									135	140	138					5																	140751254		2177	4271	6448	SO:0001819	synonymous_variant	0							g.chr5:140751254G>A	AF152519	CCDS58980.1, CCDS75334.1	5q31	2010-01-26						"Cadherins / Protocadherins : Clustered"	8710	other	protocadherin		606301				10380929	Standard	NM_018924		Approved	PCDH-GAMMA-B3		Q9Y5G1		ENST00000576222.1:c.1293G>A	5.37:g.140751254G>A						PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron	p.P431P	NM_018924.2|NM_032097.1	NP_061747.1|NP_115268.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1424	+								A7E229|Q9Y5C7	Silent	SNP	ENST00000576222.1	37	c.1293G>A	CCDS58980.1																																																																																				0.527	PCDHGB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437094.1	NM_018924		40	118	0	0	0	1	0	40	118					A	140751254	G	A	140751254	2	1	286	1	0	0	0	0	0	0	0	1	11564	1074	38	1		1	PCDHGB3	5	140751254	Silent	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	6855	140751254	40164006	201	13331											
PCDHGA7	56108	broad.mit.edu	37	chr5	140764615	140764615	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tactgctggcgctcaggctgCggcgctggcacaagtcacgc	6	7	14	14	4	2	0	2	0	0	0	2	0	2	0	0	4	3	5	0	4	2	1			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr5:140764615C>T	ENST00000518325.1	+	1	2149	c.2149C>T	c.(2149-2151)Cgg>Tgg	p.R717W	PCDHGB3_ENST00000576222.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB4_ENST00000519479.1_5'Flank|PCDHGB2_ENST00000522605.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron	NM_018920.2	NP_061743.1	Q9Y5G6	PCDG7_HUMAN	protocadherin gamma subfamily A, 7	717					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|biliary_tract(1)|endometrium(8)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|skin(1)|stomach(3)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCTCAGGCTGCGGCGCTGGCA	0.617																																						ENST00000518325.1																			0				NS(1)|biliary_tract(1)|endometrium(8)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|skin(1)|stomach(3)|urinary_tract(1)	49						c.(2149-2151)Cgg>Tgg									54	59	57					5																	140764615		2202	4300	6502	SO:0001583	missense	0							g.chr5:140764615C>T	AF152514	CCDS54927.1, CCDS75336.1	5q31	2010-01-26				ENSG00000253537		"Cadherins / Protocadherins : Clustered"	8705	other	protocadherin		606294				10380929	Standard	NM_018920		Approved	PCDH-GAMMA-A7		Q9Y5G6		ENST00000518325.1:c.2149C>T	5.37:g.140764615C>T	ENSP00000430024:p.Arg717Trp					PCDHGA6_ENST00000517434.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron	p.R717W	NM_018920.2	NP_061743.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2149	+								B2RN87|Q9Y5D0	Missense_Mutation	SNP	ENST00000518325.1	37	c.2149C>T	CCDS54927.1	.	.	.	.	.	.	.	.	.	.	.	11.62	1.692318	0.30052	.	.	ENSG00000253537	ENST00000518325	T	0.54866	0.55	4.93	-9.85	0.00476	.	.	.	.	.	T	0.39835	0.1093	M	0.67700	2.07	0.09310	N	1	B;B	0.28552	0.215;0.1	B;B	0.27715	0.082;0.046	T	0.33548	-0.9864	9	0.52906	T	0.07	.	3.6286	0.08123	0.398:0.3526:0.0711:0.1782	.	717;717	Q9Y5G6;Q9Y5G6-2	PCDG7_HUMAN;.	W	717	ENSP00000430024:R717W	ENSP00000430024:R717W	R	+	1	2	PCDHGA7	140744799	0.000000	0.05858	0.061000	0.19648	0.550000	0.35303	-1.498000	0.02287	-2.019000	0.00942	-0.300000	0.09419	CGG		0.617	PCDHGA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374744.1	NM_018920		7	46	0	0	0	1	0	7	46					T	140764615	C	T	140764615	3	4	286	1	0	0	0	0	1	0	0	0	11559	759	27	1	2151	1	PCDHGA7	5	140764615	Missense_Mutation	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	13361	140764615	40150645	202	13332											
PCDHGB6	56100	broad.mit.edu	37	chr5	140789375	140789375	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cgctcacgctgcaggcccgcGaccacggctcgcccacgctc	5	4	11	21	7	1	0	1	0	0	0	3	1	1	0	3	2	1	5	3	2	0	0			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr5:140789375G>A	ENST00000520790.1	+	1	1606	c.1606G>A	c.(1606-1608)Gac>Aac	p.D536N	PCDHGA9_ENST00000573521.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron	NM_018926.2|NM_032100.1	NP_061749.1|NP_115271.1	Q9Y5F9	PCDGI_HUMAN	protocadherin gamma subfamily B, 6	536	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)	48			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCAGGCCCGCGACCACGGCTC	0.687																																						ENST00000520790.1																			0				breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)	48						c.(1606-1608)Gac>Aac									15	19	17					5																	140789375		2020	4167	6187	SO:0001583	missense	0							g.chr5:140789375G>A	AF152522	CCDS54929.1, CCDS75342.1	5q31	2010-01-26				ENSG00000253305		"Cadherins / Protocadherins : Clustered"	8713	other	protocadherin		606303				10380929	Standard	NM_018926		Approved	PCDH-GAMMA-B6		Q9Y5F9		ENST00000520790.1:c.1606G>A	5.37:g.140789375G>A	ENSP00000428603:p.Asp536Asn					PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA6_ENST00000517434.1_Intron	p.D536N	NM_018926.2|NM_032100.1	NP_061749.1|NP_115271.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1606	+								Q9Y5C5	Missense_Mutation	SNP	ENST00000520790.1	37	c.1606G>A	CCDS54929.1	.	.	.	.	.	.	.	.	.	.	g	17.96	3.515731	0.64634	.	.	ENSG00000253305	ENST00000520790	T	0.79940	-1.32	5.26	4.4	0.53042	Cadherin (5);Cadherin-like (1);	.	.	.	.	D	0.93249	0.7849	H	0.98111	4.15	0.34097	D	0.661366	D;D	0.89917	1.0;0.999	D;D	0.83275	0.996;0.987	D	0.97610	1.0129	9	0.87932	D	0	.	13.5614	0.61790	0.0763:0.0:0.9237:0.0	.	536;536	Q9Y5F9;Q9Y5F9-2	PCDGI_HUMAN;.	N	536	ENSP00000428603:D536N	ENSP00000428603:D536N	D	+	1	0	PCDHGB6	140769559	1.000000	0.71417	0.999000	0.59377	0.244000	0.25665	6.753000	0.74904	1.227000	0.43598	0.462000	0.41574	GAC		0.687	PCDHGB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374746.1	NM_018926		3	22	0	0	0	1	0	3	22					A	140789375	G	A	140789375	3	1	286	1	0	0	0	0	1	0	0	0	11567	1058	37	2	1608	2	PCDHGB6	5	140789375	Missense_Mutation	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	24760	140789375	40125885	203	13333											
ABLIM3	22885	broad.mit.edu	37	chr5	148586656	148586656	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cacgtcagctgcttcaagtgCcagacctgcagcgtcatcct	8	9	9	15	2	3	1	3	0	0	1	4	1	4	1	3	0	5	3	3	0	1	1			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr5:148586656C>T	ENST00000506113.1	+	5	1016	c.534C>T	c.(532-534)tgC>tgT	p.C178C	ABLIM3_ENST00000309868.7_Silent_p.C178C|ABLIM3_ENST00000508983.1_Silent_p.C178C|ABLIM3_ENST00000504238.1_Silent_p.C178C|RP11-331K21.1_ENST00000512647.2_RNA|RP11-331K21.1_ENST00000522685.1_RNA|ABLIM3_ENST00000326685.7_Silent_p.C178C|ABLIM3_ENST00000356541.3_Silent_p.C178C			O94929	ABLM3_HUMAN	actin binding LIM protein family, member 3	178	LIM zinc-binding 3. {ECO:0000255|PROSITE- ProRule:PRU00125}.				actin cytoskeleton organization (GO:0030036)|axon guidance (GO:0007411)|cilium assembly (GO:0042384)|lamellipodium assembly (GO:0030032)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|lamellipodium (GO:0030027)|stress fiber (GO:0001725)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCTTCAAGTGCCAGACCTGCA	0.622																																						ENST00000506113.1																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						c.(532-534)tgC>tgT		actin binding LIM protein family, member 3							101	87	92					5																	148586656		2203	4300	6503	SO:0001819	synonymous_variant	22885				axon guidance|cytoskeleton organization	cytoplasm	actin binding|zinc ion binding	g.chr5:148586656C>T	AB020650	CCDS4294.1	5q33.1	2008-02-05			ENSG00000173210	ENSG00000173210			29132	protein-coding gene	gene with protein product		611305					Standard	XM_005268392		Approved	KIAA0843	uc003lpy.2	O94929	OTTHUMG00000129932	ENST00000506113.1:c.534C>T	5.37:g.148586656C>T						ABLIM3_ENST00000356541.3_Silent_p.C178C|ABLIM3_ENST00000309868.7_Silent_p.C178C|ABLIM3_ENST00000508983.1_Silent_p.C178C|ABLIM3_ENST00000504238.1_Silent_p.C178C|ABLIM3_ENST00000326685.7_Silent_p.C178C|RP11-331K21.1_ENST00000522685.1_RNA|RP11-331K21.1_ENST00000512647.2_RNA	p.C178C			O94929	ABLM3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		5	1016	+			178			LIM zinc-binding 3.		A8K121|Q19VH3|Q658S1|Q68CI5|Q9BV32	Silent	SNP	ENST00000506113.1	37	c.534C>T	CCDS4294.1																																																																																				0.622	ABLIM3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373435.1	NM_014945		10	40	0	0	0	1	0	10	40					T	148586656	C	T	148586656	2	4	286	1	0	0	0	0	0	0	0	1	96	747	26	3		3	ABLIM3	5	148586656	Silent	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	7797281	148586656	32328604	204	13334											
CSF1R	1436	broad.mit.edu	37	chr5	149460505	149460505	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcccattccacgctgccattGcccacacatcgcaaggtcac	9	8	6	18	2	1	0	1	0	0	0	4	0	3	0	4	1	2	2	4	1	1	2			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr5:149460505G>A	ENST00000286301.3	-	3	423	c.132C>T	c.(130-132)ggC>ggT	p.G44G	CSF1R_ENST00000543093.1_Silent_p.G44G	NM_005211.3	NP_005202.2	P07333	CSF1R_HUMAN	colony stimulating factor 1 receptor	44	Ig-like C2-type 1.				cell proliferation (GO:0008283)|cell-cell junction maintenance (GO:0045217)|cellular response to cytokine stimulus (GO:0071345)|cellular response to macrophage colony-stimulating factor stimulus (GO:0036006)|cytokine-mediated signaling pathway (GO:0019221)|hemopoiesis (GO:0030097)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|macrophage differentiation (GO:0030225)|mammary gland duct morphogenesis (GO:0060603)|monocyte differentiation (GO:0030224)|multicellular organismal development (GO:0007275)|osteoclast differentiation (GO:0030316)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol metabolic process (GO:0046488)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell migration (GO:0030335)|positive regulation of cell motility (GO:2000147)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chemokine secretion (GO:0090197)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|protein autophosphorylation (GO:0046777)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of bone resorption (GO:0045124)|regulation of cell shape (GO:0008360)|ruffle organization (GO:0031529)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|cytokine binding (GO:0019955)|macrophage colony-stimulating factor receptor activity (GO:0005011)|protein homodimerization activity (GO:0042803)			NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(38)|kidney(2)|large_intestine(6)|liver(3)|lung(23)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	93			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		Imatinib(DB00619)|Sunitinib(DB01268)	CGCTGCCATTGCCCACACATC	0.592																																						ENST00000286301.3																			0				NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(38)|kidney(2)|large_intestine(6)|liver(3)|lung(23)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	93						c.(130-132)ggC>ggT		colony stimulating factor 1 receptor	Imatinib(DB00619)|Sunitinib(DB01268)						125	88	100					5																	149460505		2203	4300	6503	SO:0001819	synonymous_variant	1436				cell proliferation|multicellular organismal development|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane|receptor complex	ATP binding|cytokine binding|macrophage colony-stimulating factor receptor activity|protein homodimerization activity	g.chr5:149460505G>A	U63963	CCDS4302.1	5q32	2013-01-11	2008-08-01		ENSG00000182578	ENSG00000182578		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	2433	protein-coding gene	gene with protein product		164770	"McDonough feline sarcoma viral (v-fms) oncogene homolog"	FMS		1611909	Standard	NM_005211		Approved	C-FMS, CSFR, CD115	uc003lrm.3	P07333	OTTHUMG00000130050	ENST00000286301.3:c.132C>T	5.37:g.149460505G>A						CSF1R_ENST00000543093.1_Silent_p.G44G	p.G44G	NM_005211.3	NP_005202.2	P07333	CSF1R_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		3	423	-			44			Ig-like C2-type 1.		B5A955|D3DQG2|Q6LDW5|Q6LDY4|Q86VW7	Silent	SNP	ENST00000286301.3	37	c.132C>T	CCDS4302.1																																																																																				0.592	CSF1R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252329.2	NM_005211		8	46	0	0	0	1	0	8	46					A	149460505	G	A	149460505	2	1	286	1	0	0	0	0	0	0	0	1	3932	1306	46	3		3	CSF1R	5	149460505	Silent	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	873849	149460505	31454755	205	13335											
PDGFRB	5159	broad.mit.edu	37	chr5	149514471	149514471	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttcttctcgtgcagtgtcAccaccagctgtgggtctgtt	4	15	10	12	1	4	0	1	0	3	0	5	0	4	0	2	1	2	3	2	1	0	3			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr5:149514471A>G	ENST00000261799.4	-	4	942	c.473T>C	c.(472-474)gTg>gCg	p.V158A		NM_002609.3	NP_002600.1	P09619	PGFRB_HUMAN	platelet-derived growth factor receptor, beta polypeptide	158	Ig-like C2-type 2.				adrenal gland development (GO:0030325)|aorta morphogenesis (GO:0035909)|cardiac myofibril assembly (GO:0055003)|cell chemotaxis (GO:0060326)|cell migration (GO:0016477)|cell migration involved in coronary angiogenesis (GO:0060981)|cell migration involved in vasculogenesis (GO:0035441)|cellular response to platelet-derived growth factor stimulus (GO:0036120)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|glycosaminoglycan biosynthetic process (GO:0006024)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inner ear development (GO:0048839)|metanephric comma-shaped body morphogenesis (GO:0072278)|metanephric glomerular capillary formation (GO:0072277)|metanephric glomerular mesangial cell proliferation involved in metanephros development (GO:0072262)|metanephric mesenchymal cell migration (GO:0035789)|metanephric mesenchyme development (GO:0072075)|metanephric S-shaped body morphogenesis (GO:0072284)|negative regulation of apoptotic process (GO:0043066)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol metabolic process (GO:0046488)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|platelet-derived growth factor receptor-beta signaling pathway (GO:0035791)|positive regulation of calcium ion import (GO:0090280)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell proliferation by VEGF-activated platelet derived growth factor receptor signaling pathway (GO:0038091)|positive regulation of chemotaxis (GO:0050921)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway (GO:0035793)|positive regulation of mitosis (GO:0045840)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of smooth muscle cell migration (GO:0014911)|positive regulation of smooth muscle cell proliferation (GO:0048661)|protein autophosphorylation (GO:0046777)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to estradiol (GO:0032355)|response to fluid shear stress (GO:0034405)|response to hydrogen peroxide (GO:0042542)|response to hyperoxia (GO:0055093)|response to retinoic acid (GO:0032526)|response to toxic substance (GO:0009636)|retina vasculature development in camera-type eye (GO:0061298)|signal transduction (GO:0007165)|skeletal system morphogenesis (GO:0048705)|smooth muscle cell chemotaxis (GO:0071670)|smooth muscle tissue development (GO:0048745)|tissue homeostasis (GO:0001894)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intrinsic component of plasma membrane (GO:0031226)|lysosome (GO:0005764)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|platelet activating factor receptor activity (GO:0004992)|platelet-derived growth factor beta-receptor activity (GO:0005019)|platelet-derived growth factor binding (GO:0048407)|platelet-derived growth factor receptor binding (GO:0005161)|platelet-derived growth factor-activated receptor activity (GO:0005017)|protein kinase binding (GO:0019901)|protein tyrosine kinase activity (GO:0004713)|receptor binding (GO:0005102)|vascular endothelial growth factor binding (GO:0038085)			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(3)|prostate(3)|skin(3)|stomach(6)|urinary_tract(1)	75		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	GTGCAGTGTCACCACCAGCTG	0.498			T	"ETV6, TRIP11, HIP1, RAB5EP, H4, NIN, HCMOGT-1, PDE4DIP"	"MPD, AML, CMML, CML"																																	ENST00000261799.4				Dom	yes		5	5q31-q32	5159	T	"platelet-derived growth factor receptor, beta polypeptide"			L	"ETV6, TRIP11, HIP1, RAB5EP, H4, NIN, HCMOGT-1, PDE4DIP"		"MPD, AML, CMML, CML"		0				breast(3)|central_nervous_system(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(3)|prostate(3)|skin(3)|stomach(6)|urinary_tract(1)	75						c.(472-474)gTg>gCg		platelet-derived growth factor receptor, beta polypeptide	Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)						147	144	145					5																	149514471		2203	4300	6503	SO:0001583	missense	5159				aorta morphogenesis|cardiac myofibril assembly|hemopoiesis|metanephric glomerular capillary formation|metanephric glomerular mesangial cell proliferation involved in metanephros development|peptidyl-tyrosine phosphorylation|positive regulation of calcium ion import|positive regulation of chemotaxis|positive regulation of DNA biosynthetic process|positive regulation of ERK1 and ERK2 cascade|positive regulation of MAP kinase activity|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of mitosis|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|protein autophosphorylation|regulation of actin cytoskeleton organization|retina vasculature development in camera-type eye|smooth muscle cell chemotaxis	apical plasma membrane|cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|vascular endothelial growth factor receptor activity	g.chr5:149514471A>G	M21616	CCDS4303.1	5q33.1	2013-01-29			ENSG00000113721	ENSG00000113721		"CD molecules", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	8804	protein-coding gene	gene with protein product		173410		PDGFR			Standard	XM_005268464		Approved	JTK12, CD140b, PDGFR1	uc003lro.3	P09619	OTTHUMG00000130053	ENST00000261799.4:c.473T>C	5.37:g.149514471A>G	ENSP00000261799:p.Val158Ala						p.V158A	NM_002609.3	NP_002600.1	P09619	PGFRB_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		4	942	-		all_hematologic(541;0.224)	158			Ig-like C2-type 2.		B5A957|Q8N5L4	Missense_Mutation	SNP	ENST00000261799.4	37	c.473T>C	CCDS4303.1	.	.	.	.	.	.	.	.	.	.	A	28.6	4.936551	0.92458	.	.	ENSG00000113721	ENST00000261799;ENST00000517488;ENST00000517957	T;T;T	0.46819	0.86;0.86;0.86	5.85	5.85	0.93711	Immunoglobulin-like fold (1);	0.000000	0.50627	D	0.000101	T	0.72771	0.3502	M	0.85630	2.765	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.77768	-0.2464	10	0.87932	D	0	.	16.2303	0.82332	1.0:0.0:0.0:0.0	.	158;158	B5A957;P09619	.;PGFRB_HUMAN	A	158;94;158	ENSP00000261799:V158A;ENSP00000429218:V94A;ENSP00000430715:V158A	ENSP00000261799:V158A	V	-	2	0	PDGFRB	149494664	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	8.036000	0.88901	2.233000	0.73108	0.533000	0.62120	GTG		0.498	PDGFRB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252332.1	NM_002609		15	70	0	0	0	1	0	15	70					G	149514471	A	G	149514471	3	3	286	1	0	0	0	0	1	0	0	0	11662	159	6	4	2927	4	PDGFRB	5	149514471	Missense_Mutation	SNP	A	TCGA-J9-A52C-01A-11D-A26M-08	53966	149514471	31400789	206	13336											
NDST1	3340	broad.mit.edu	37	chr5	149915319	149915319	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cgccccaccactcgggcgtgTaccccgtgcacgtgcagctg	5	6	12	18	5	0	0	0	0	0	0	1	0	0	0	5	1	4	4	5	1	1	1			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr5:149915319T>C	ENST00000261797.6	+	6	1811	c.1309T>C	c.(1309-1311)Tac>Cac	p.Y437H	NDST1_ENST00000523767.1_Missense_Mutation_p.Y437H	NM_001543.4	NP_001534.1	P52848	NDST1_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 1	437	Heparan sulfate N-deacetylase 1.				carbohydrate metabolic process (GO:0005975)|embryonic neurocranium morphogenesis (GO:0048702)|embryonic viscerocranium morphogenesis (GO:0048703)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain development (GO:0030900)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparin biosynthetic process (GO:0030210)|inflammatory response (GO:0006954)|MAPK cascade (GO:0000165)|midbrain development (GO:0030901)|polysaccharide biosynthetic process (GO:0000271)|respiratory gaseous exchange (GO:0007585)|small molecule metabolic process (GO:0044281)|smoothened signaling pathway (GO:0007224)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine N-sulfotransferase activity (GO:0015016)|deacetylase activity (GO:0019213)			breast(2)|central_nervous_system(3)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	34		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CTCGGGCGTGTACCCCGTGCA	0.642																																						ENST00000261797.6																			0				breast(2)|central_nervous_system(3)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	34						c.(1309-1311)Tac>Cac		N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 1							83	69	74					5																	149915319		2203	4300	6503	SO:0001583	missense	3340				heparan sulfate proteoglycan biosynthetic process|inflammatory response	Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity	g.chr5:149915319T>C	U18918	CCDS34277.1, CCDS75358.1	5q33.1	2008-02-05				ENSG00000070614		"Sulfotransferases, membrane-bound"	7680	protein-coding gene	gene with protein product		600853		HSST		7601448, 9230113	Standard	NM_001543		Approved	NST1	uc003lsk.4	P52848		ENST00000261797.6:c.1309T>C	5.37:g.149915319T>C	ENSP00000261797:p.Tyr437His					NDST1_ENST00000523767.1_Missense_Mutation_p.Y437H	p.Y437H	NM_001543.4	NP_001534.1	P52848	NDST1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		6	1811	+		all_hematologic(541;0.224)	437			Heparan sulfate N-deacetylase 1.		Q96E57	Missense_Mutation	SNP	ENST00000261797.6	37	c.1309T>C	CCDS34277.1	.	.	.	.	.	.	.	.	.	.	T	20.6	4.012793	0.75161	.	.	ENSG00000070614	ENST00000523767;ENST00000261797	T;T	0.64438	-0.1;0.3	4.79	4.79	0.61399	.	0.000000	0.85682	D	0.000000	T	0.79015	0.4375	M	0.79475	2.455	0.80722	D	1	D;B;P	0.89917	1.0;0.178;0.529	D;B;B	0.85130	0.997;0.188;0.33	T	0.82408	-0.0472	10	0.87932	D	0	.	14.6414	0.68729	0.0:0.0:0.0:1.0	.	437;437;437	E7EVJ3;P52848-2;P52848	.;.;NDST1_HUMAN	H	437	ENSP00000428604:Y437H;ENSP00000261797:Y437H	ENSP00000261797:Y437H	Y	+	1	0	NDST1	149895512	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.991000	0.88244	1.923000	0.55706	0.533000	0.62120	TAC		0.642	NDST1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374314.2	NM_001543		13	48	0	0	0	1	0	13	48					C	149915319	T	C	149915319	3	2	286	1	0	0	0	0	1	0	0	0	10255	1638	57	4	1327	4	NDST1	5	149915319	Missense_Mutation	SNP	T	TCGA-J9-A52C-01A-11D-A26M-08	400848	149915319	30999941	207	13337											
CYFIP2	26999	broad.mit.edu	37	chr5	156746769	156746769	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccttggcctcttcctgcccaGgtgatcgccatgatcaaagg	7	10	10	14	1	2	2	1	2	1	0	4	2	3	2	5	3	1	0	5	3	1	2			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr5:156746769G>T	ENST00000521420.1	+	13	1369		c.e13-1		CYFIP2_ENST00000522463.1_Splice_Site|CYFIP2_ENST00000435847.2_Splice_Site|CYFIP2_ENST00000347377.6_Splice_Site|CYFIP2_ENST00000377576.3_Splice_Site|CYFIP2_ENST00000318218.6_Splice_Site|CYFIP2_ENST00000442283.2_Splice_Site|CYFIP2_ENST00000541131.1_Splice_Site					cytoplasmic FMR1 interacting protein 2											breast(1)|endometrium(12)|kidney(2)|lung(23)	38	Renal(175;0.00212)	Medulloblastoma(196;0.0306)|all_neural(177;0.0897)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TTCCTGCCCAGGTGATCGCCA	0.597																																						ENST00000347377.6																			0				breast(1)|endometrium(12)|kidney(2)|lung(23)	38						c.e14-1		cytoplasmic FMR1 interacting protein 2							73	71	72					5																	156746769		2203	4300	6503	SO:0001630	splice_region_variant	26999				apoptosis|cell-cell adhesion	cell junction|perinuclear region of cytoplasm|synapse|synaptosome	protein binding	g.chr5:156746769G>T	AF160973	CCDS75364.1	5q34	2008-07-18				ENSG00000055163			13760	protein-coding gene	gene with protein product	"p53 inducible protein"	606323				11438699	Standard	NM_001037333		Approved	PIR121	uc021ygm.1	Q96F07		ENST00000521420.1:c.1279-1G>T	5.37:g.156746769G>T						CYFIP2_ENST00000522463.1_Splice_Site|CYFIP2_ENST00000541131.1_Splice_Site|CYFIP2_ENST00000435847.2_Splice_Site|CYFIP2_ENST00000521420.1_Splice_Site|CYFIP2_ENST00000318218.6_Splice_Site|CYFIP2_ENST00000377576.3_Splice_Site|CYFIP2_ENST00000442283.2_Splice_Site		NM_001037332.2	NP_001032409.2	Q96F07	CYFP2_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		14	1787	+	Renal(175;0.00212)	Medulloblastoma(196;0.0306)|all_neural(177;0.0897)							Splice_Site	SNP	ENST00000521420.1	37			.	.	.	.	.	.	.	.	.	.	G	25.9	4.684829	0.88639	.	.	ENSG00000055163	ENST00000318218;ENST00000522463;ENST00000521420;ENST00000347377;ENST00000377576;ENST00000541131;ENST00000435847	.	.	.	5.83	5.83	0.93111	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.1152	0.97926	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CYFIP2	156679347	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	8.624000	0.90961	2.750000	0.94351	0.655000	0.94253	.		0.597	CYFIP2-001	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000373710.1	NM_001037332	Intron	5	24	1	0	1.23904e-05	1	1.25109e-05	5	24					T	156746769	G	T	156746769	5	4	286	1	0	0	0	0	0	0	1	0	4138	1014	35	5	1406	5	CYFIP2	5	156746769	Splice_Site	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	6831450	156746769	24168491	208	13338											
WWC1	23286	broad.mit.edu	37	chr5	167868736	167868736	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctgccggtctggggagaggtCgactcgctggtacaaccttc	6	9	14	12	3	1	1	0	0	1	1	4	3	1	1	2	5	3	2	2	5	2	2	rs368353585		TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr5:167868736C>T	ENST00000265293.4	+	16	2832	c.2330C>T	c.(2329-2331)tCg>tTg	p.S777L	WWC1_ENST00000521089.1_Missense_Mutation_p.S777L|WWC1_ENST00000522140.1_3'UTR	NM_001161661.1|NM_001161662.1|NM_015238.2	NP_001155133.1|NP_001155134.1|NP_056053.1	Q8IX03	KIBRA_HUMAN	WW and C2 domain containing 1	777	C2.				cell migration (GO:0016477)|establishment of cell polarity (GO:0030010)|hippo signaling (GO:0035329)|negative regulation of hippo signaling (GO:0035331)|negative regulation of organ growth (GO:0046621)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of MAPK cascade (GO:0043410)|regulation of hippo signaling (GO:0035330)|regulation of intracellular transport (GO:0032386)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|protein complex (GO:0043234)|ruffle membrane (GO:0032587)	kinase binding (GO:0019900)|protein complex scaffold (GO:0032947)|transcription coactivator activity (GO:0003713)			breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(1)|skin(4)	43	Renal(175;0.000212)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0399)|all_neural(177;0.0577)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0364)|Epithelial(171;0.0765)|OV - Ovarian serous cystadenocarcinoma(192;0.0918)		GGGGAGAGGTCGACTCGCTGG	0.607													C|||	1	0.000199681	0	0	5008	,	,		16346	0.001		0	False		,,,				2504	0					ENST00000265293.4																			0				breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(1)|skin(4)	43						c.(2329-2331)tCg>tTg		WW and C2 domain containing 1		C	LEU/SER,LEU/SER,LEU/SER	2,4404	4.2+/-10.8	0,2,2201	50	52	51		2330,2330,2330	3.5	1	5		51	0,8600		0,0,4300	no	missense,missense,missense	WWC1	NM_001161661.1,NM_001161662.1,NM_015238.2	145,145,145	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	possibly-damaging,possibly-damaging,possibly-damaging	777/1120,777/1119,777/1114	167868736	2,13004	2203	4300	6503	SO:0001583	missense	23286				cell migration|positive regulation of MAPKKK cascade|regulation of hippo signaling cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perinuclear region of cytoplasm|ruffle membrane	protein binding|transcription coactivator activity	g.chr5:167868736C>T	AF506799	CCDS4366.1, CCDS54945.1	5q34	2014-06-13	2006-11-09		ENSG00000113645	ENSG00000113645		"WW, C2 and coiled-coil domain containing"	29435	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 168"	610533	"WW, C2 and coiled-coil domain containing 1"			10048485, 12559952	Standard	NM_001161661		Approved	KIBRA, KIAA0869, PPP1R168	uc011den.2	Q8IX03	OTTHUMG00000130408	ENST00000265293.4:c.2330C>T	5.37:g.167868736C>T	ENSP00000265293:p.Ser777Leu					WWC1_ENST00000521089.1_Missense_Mutation_p.S777L|WWC1_ENST00000522140.1_3'UTR	p.S777L	NM_001161661.1|NM_001161662.1|NM_015238.2	NP_001155133.1|NP_001155134.1|NP_056053.1	Q8IX03	KIBRA_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0364)|Epithelial(171;0.0765)|OV - Ovarian serous cystadenocarcinoma(192;0.0918)	16	2832	+	Renal(175;0.000212)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0399)|all_neural(177;0.0577)	777			C2.		B4DK05|O94946|Q6MZX4|Q6Y2F8|Q7Z4G8|Q8WVM4|Q9BT29	Missense_Mutation	SNP	ENST00000265293.4	37	c.2330C>T	CCDS4366.1	.	.	.	.	.	.	.	.	.	.	C	9.499	1.102819	0.20632	4.54E-4	0.0	ENSG00000113645	ENST00000265293;ENST00000521089;ENST00000524038	T;T;T	0.58797	0.31;0.31;0.31	5.31	3.51	0.40186	C2 calcium/lipid-binding domain, CaLB (1);	0.604659	0.16675	N	0.204182	T	0.33904	0.0879	L	0.28115	0.83	0.29836	N	0.829628	D;B;B;P	0.55605	0.972;0.006;0.004;0.826	B;B;B;B	0.36378	0.223;0.005;0.009;0.112	T	0.18524	-1.0334	10	0.11182	T	0.66	.	8.6024	0.33754	0.0:0.82:0.0:0.18	.	777;683;683;777	Q8IX03-2;F5H498;B3KX05;Q8IX03	.;.;.;KIBRA_HUMAN	L	777;777;103	ENSP00000265293:S777L;ENSP00000427772:S777L;ENSP00000428084:S103L	ENSP00000265293:S777L	S	+	2	0	WWC1	167801314	1.000000	0.71417	0.991000	0.47740	0.995000	0.86356	2.543000	0.45752	1.249000	0.43950	0.456000	0.33151	TCG		0.607	WWC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000252791.2	NM_015238		7	47	0	0	0	1	0	7	47					T	167868736	C	T	167868736	3	4	286	1	0	0	0	0	1	0	0	0	17408	893	31	2	2392	2	WWC1	5	167868736	Missense_Mutation	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	11121967	167868736	13046524	209	13339											
SLIT3	6586	broad.mit.edu	37	chr5	168244341	168244341	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttcttctgcacatccgccaCgttgaagcccctcaaatgca	9	10	6	16	2	3	1	1	1	2	0	4	1	4	1	4	0	3	3	4	0	2	3	rs143627388	byFrequency	TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr5:168244341C>T	ENST00000519560.1	-	8	1176	c.757G>A	c.(757-759)Gtg>Atg	p.V253M	SLIT3_ENST00000404867.3_Missense_Mutation_p.V253M|SLIT3_ENST00000332966.8_Missense_Mutation_p.V253M	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053	O75094	SLIT3_HUMAN	slit homolog 3 (Drosophila)	253	LRRCT 1.				apoptotic process involved in luteolysis (GO:0061364)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|cellular response to hormone stimulus (GO:0032870)|negative chemotaxis (GO:0050919)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of gene expression (GO:0010629)|organ morphogenesis (GO:0009887)|response to cortisol (GO:0051414)|Roundabout signaling pathway (GO:0035385)	extracellular space (GO:0005615)|mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)|Roundabout binding (GO:0048495)			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			ACATCCGCCACGTTGAAGCCC	0.597													C|||	4	0.000798722	8e-04	0	5008	,	,		17290	0		0.003	False		,,,				2504	0				Ovarian(29;311 847 10864 17279 24903)	ENST00000519560.1																			0				endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100						c.(757-759)Gtg>Atg		slit homolog 3 (Drosophila)		C	MET/VAL	0,4406		0,0,2203	92	83	86		757	5.2	0.8	5	dbSNP_134	86	2,8598	2.2+/-6.3	0,2,4298	yes	missense	SLIT3	NM_003062.2	21	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	probably-damaging	253/1524	168244341	2,13004	2203	4300	6503	SO:0001583	missense	6586				apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway	extracellular space|mitochondrion	calcium ion binding|Roundabout binding	g.chr5:168244341C>T	AB011538	CCDS4369.1, CCDS64311.1	5q35	2008-07-18	2001-11-28		ENSG00000184347	ENSG00000184347			11087	protein-coding gene	gene with protein product		603745	"slit (Drosophila) homolog 3"	SLIL2		9693030, 9813312	Standard	NM_001271946		Approved	slit2, MEGF5, SLIT1, Slit-3	uc010jjg.4	O75094	OTTHUMG00000130409	ENST00000519560.1:c.757G>A	5.37:g.168244341C>T	ENSP00000430333:p.Val253Met					SLIT3_ENST00000332966.8_Missense_Mutation_p.V253M|SLIT3_ENST00000404867.3_Missense_Mutation_p.V253M	p.V253M	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053.1	O75094	SLIT3_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		8	1176	-	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	253			LRRCT 1.		A6H8U9|J3KNP3|O95804|Q9UFH5	Missense_Mutation	SNP	ENST00000519560.1	37	c.757G>A	CCDS4369.1	3	0.0013736263736263737	0	0.0	0	0.0	0	0.0	3	0.00395778364116095	C	26.8	4.776189	0.90195	0.0	2.33E-4	ENSG00000184347	ENST00000519560;ENST00000332966;ENST00000404867	T;T;T	0.77750	-1.12;-1.12;-1.11	5.25	5.25	0.73442	Cysteine-rich flanking region, C-terminal (2);	0.111348	0.64402	D	0.000012	D	0.89015	0.6595	M	0.80183	2.485	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.998	D;D;D	0.91635	0.999;0.985;0.986	D	0.90351	0.4366	10	0.87932	D	0	.	18.8657	0.92292	0.0:1.0:0.0:0.0	.	253;253;253	O75094-2;O75094-3;O75094	.;.;SLIT3_HUMAN	M	253	ENSP00000430333:V253M;ENSP00000332164:V253M;ENSP00000384890:V253M	ENSP00000332164:V253M	V	-	1	0	SLIT3	168176919	1.000000	0.71417	0.841000	0.33234	0.911000	0.54048	7.818000	0.86416	2.459000	0.83118	0.462000	0.41574	GTG		0.597	SLIT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252792.4	NM_003062		4	44	0	0	0	1	0	4	44					T	168244341	C	T	168244341	3	4	286	1	0	0	0	0	1	0	0	0	14741	536	19	1	3930	1	SLIT3	5	168244341	Missense_Mutation	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	375605	168244341	12670919	210	13340											
RUFY1	80230	broad.mit.edu	37	chr5	179025750	179025750	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caaagacaggctcttcagcgCgaattacagcacgagaaaga	16	5	10	10	3	2	3	1	0	1	3	2	5	2	3	0	1	3	2	0	1	4	2	rs199910786		TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr5:179025750C>T	ENST00000319449.4	+	14	1701	c.1689C>T	c.(1687-1689)cgC>cgT	p.R563R	RUFY1_ENST00000437570.2_Silent_p.R455R|RUFY1_ENST00000393438.2_Silent_p.R455R|RUFY1_ENST00000377001.2_3'UTR|RP11-1379J22.2_ENST00000500262.1_RNA	NM_025158.4	NP_079434.3	Q96T51	RUFY1_HUMAN	RUN and FYVE domain containing 1	563					endocytosis (GO:0006897)|regulation of endocytosis (GO:0030100)	cytoplasm (GO:0005737)|endosome (GO:0005768)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)	lipid binding (GO:0008289)|protein transporter activity (GO:0008565)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	26	all_cancers(89;0.00018)|all_epithelial(37;8.37e-05)|Renal(175;0.000159)|Lung NSC(126;0.00108)|all_lung(126;0.00195)	all_cancers(40;0.0322)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CTCTTCAGCGCGAATTACAGC	0.478										HNSCC(44;0.11)			C|||	1	0.000199681	0	0	5008	,	,		20486	0		0.001	False		,,,				2504	0					ENST00000319449.4																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	26						c.(1687-1689)cgC>cgT		RUN and FYVE domain containing 1							128	126	127					5																	179025750		2203	4300	6503	SO:0001819	synonymous_variant	80230				endocytosis|protein transport	early endosome membrane	lipid binding|zinc ion binding	g.chr5:179025750C>T	AF361055	CCDS4445.2, CCDS34312.1	5q35.3	2008-02-05			ENSG00000176783	ENSG00000176783		"Zinc fingers, FYVE domain containing"	19760	protein-coding gene	gene with protein product		610327				11877430	Standard	NM_001040451		Approved	FLJ22251, ZFYVE12, RABIP4	uc003mka.2	Q96T51	OTTHUMG00000130913	ENST00000319449.4:c.1689C>T	5.37:g.179025750C>T		HNSCC(44;0.11)				RUFY1_ENST00000377001.2_3'UTR|RUFY1_ENST00000437570.2_Silent_p.R455R|RUFY1_ENST00000393438.2_Silent_p.R455R|RP11-1379J22.2_ENST00000500262.1_RNA	p.R563R	NM_025158.4	NP_079434.3	Q96T51	RUFY1_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		14	1701	+	all_cancers(89;0.00018)|all_epithelial(37;8.37e-05)|Renal(175;0.000159)|Lung NSC(126;0.00108)|all_lung(126;0.00195)	all_cancers(40;0.0322)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)|all_hematologic(541;0.21)	563					Q59FF3|Q71S93|Q9H6I3	Silent	SNP	ENST00000319449.4	37	c.1689C>T	CCDS4445.2	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	4.810	0.150517	0.09185	.	.	ENSG00000176783	ENST00000502434	.	.	.	4.98	-0.279	0.12890	.	0.266697	0.36303	N	0.002663	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.19590	T	0.45	-4.5204	1.2934	0.02065	0.4026:0.2601:0.2155:0.1218	.	.	.	.	X	241	.	ENSP00000426117:R241X	R	+	1	2	RUFY1	178958356	0.770000	0.28543	0.957000	0.39632	0.562000	0.35680	-0.067000	0.11579	-0.292000	0.08999	-1.334000	0.01262	CGA		0.478	RUFY1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000253505.2	NM_001040451		15	99	0	0	0	1	0	15	99					T	179025750	C	T	179025750	2	4	286	1	0	0	0	0	0	0	0	1	13738	755	27	1		1	RUFY1	5	179025750	Silent	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	10781409	179025750	1889510	211	13341											
C5orf45	51149	broad.mit.edu	37	chr5	179264647	179264647	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcccttgcttagcctgtgctGgaccagctggcctggggtcc	3	11	13	14	0	0	0	0	0	0	0	2	1	2	1	5	4	4	3	5	4	1	2			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr5:179264647G>A	ENST00000292586.6	-	7	866	c.776C>T	c.(775-777)cCa>cTa	p.P259L	C5orf45_ENST00000523084.1_Missense_Mutation_p.P125L|C5orf45_ENST00000523267.1_5'UTR|C5orf45_ENST00000376931.2_Missense_Mutation_p.P204L|SQSTM1_ENST00000389805.4_3'UTR|C5orf45_ENST00000518235.1_Intron|C5orf45_ENST00000518219.1_3'UTR|C5orf45_ENST00000403396.2_Intron|C5orf45_ENST00000520698.1_Intron|SQSTM1_ENST00000376929.3_3'UTR	NM_016175.3	NP_057259.2	Q6NTE8	CE045_HUMAN	chromosome 5 open reading frame 45	259										breast(2)|endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	12						AGCCTGTGCTGGACCAGCTGG	0.602																																						ENST00000292586.6																			0				breast(2)|endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	12						c.(775-777)cCa>cTa		chromosome 5 open reading frame 45							64	69	67					5																	179264647		2203	4300	6503	SO:0001583	missense	51149							g.chr5:179264647G>A		CCDS34318.1, CCDS34319.1	5q35.3	2008-07-10			ENSG00000161010	ENSG00000161010			30817	protein-coding gene	gene with protein product	"truncated calcium binding protein"						Standard	NM_016175		Approved	MGC65027, MGC78537, DKFZp686L2452, LOC51149	uc003mla.3	Q6NTE8	OTTHUMG00000163490	ENST00000292586.6:c.776C>T	5.37:g.179264647G>A	ENSP00000292586:p.Pro259Leu					C5orf45_ENST00000403396.2_Intron|C5orf45_ENST00000518235.1_Intron|SQSTM1_ENST00000389805.4_3'UTR|C5orf45_ENST00000518219.1_3'UTR|C5orf45_ENST00000520698.1_Intron|C5orf45_ENST00000523084.1_Missense_Mutation_p.P125L|SQSTM1_ENST00000376929.3_3'UTR|C5orf45_ENST00000376931.2_Missense_Mutation_p.P204L|C5orf45_ENST00000523267.1_5'UTR	p.P259L	NM_016175.3	NP_057259.2	Q6NTE8	CE045_HUMAN			7	866	-			259					B5MD09|E9PAK6|Q7Z3D8|Q9BUC1|Q9UN54	Missense_Mutation	SNP	ENST00000292586.6	37	c.776C>T	CCDS34319.1	.	.	.	.	.	.	.	.	.	.	G	6.496	0.459673	0.12342	.	.	ENSG00000161010	ENST00000376931;ENST00000523084;ENST00000292586	T;T;T	0.07216	3.21;3.21;3.21	4.03	1.08	0.20341	.	1.409080	0.04830	N	0.438610	T	0.05960	0.0155	N	0.19112	0.55	0.09310	N	0.999995	B;B	0.17268	0.021;0.021	B;B	0.12837	0.008;0.008	T	0.41484	-0.9506	10	0.31617	T	0.26	0.0338	4.3796	0.11288	0.228:0.1878:0.5842:0.0	.	204;259	E9PAK6;Q6NTE8	.;CE045_HUMAN	L	204;125;259	ENSP00000366130:P204L;ENSP00000429107:P125L;ENSP00000292586:P259L	ENSP00000292586:P259L	P	-	2	0	C5orf45	179197253	0.013000	0.17824	0.002000	0.10522	0.030000	0.12068	0.729000	0.26028	0.069000	0.16605	0.491000	0.48974	CCA		0.602	C5orf45-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000373760.2	NM_016175		7	41	0	0	0	1	0	7	41					A	179264647	G	A	179264647	3	1	286	1	0	0	0	0	1	0	0	0	2304	1348	47	3	259	3	C5orf45	5	179264647	Missense_Mutation	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	238897	179264647	1650613	212	13342											
FOXC1	2296	broad.mit.edu	37	chr6	1612173	1612173	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcggcggccgcaggctaccCgggccagcagcagaacttcc	7	3	15	16	4	0	1	0	0	0	1	1	1	1	1	4	5	4	4	4	5	2	2	rs542630440		TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr6:1612173C>T	ENST00000380874.2	+	1	1493	c.1493C>T	c.(1492-1494)cCg>cTg	p.P498L		NM_001453.2	NP_001444.2	Q12948	FOXC1_HUMAN	forkhead box C1	498					artery morphogenesis (GO:0048844)|blood vessel remodeling (GO:0001974)|brain development (GO:0007420)|camera-type eye development (GO:0043010)|cardiac muscle cell proliferation (GO:0060038)|collagen fibril organization (GO:0030199)|embryonic heart tube development (GO:0035050)|eye development (GO:0001654)|germ cell migration (GO:0008354)|glycosaminoglycan metabolic process (GO:0030203)|heart development (GO:0007507)|in utero embryonic development (GO:0001701)|lacrimal gland development (GO:0032808)|lymph vessel development (GO:0001945)|negative regulation of apoptotic process involved in outflow tract morphogenesis (GO:1902257)|negative regulation of mitotic cell cycle (GO:0045930)|neural crest cell development (GO:0014032)|Notch signaling pathway (GO:0007219)|odontogenesis of dentin-containing tooth (GO:0042475)|ossification (GO:0001503)|ovarian follicle development (GO:0001541)|paraxial mesoderm formation (GO:0048341)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of blood vessel size (GO:0050880)|regulation of organ growth (GO:0046620)|regulation of transcription, DNA-templated (GO:0006355)|skeletal system development (GO:0001501)|somitogenesis (GO:0001756)|ureteric bud development (GO:0001657)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cytoplasm (GO:0005737)|nuclear heterochromatin (GO:0005720)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA binding, bending (GO:0008301)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1)	8	Ovarian(93;0.0733)	all_cancers(2;4.45e-07)|all_epithelial(2;4.33e-05)|all_lung(73;0.0713)|all_hematologic(90;0.0895)		Epithelial(2;0.0904)|OV - Ovarian serous cystadenocarcinoma(45;0.095)|all cancers(2;0.168)		GCAGGCTACCCGGGCCAGCAG	0.657													C|||	1	0.000199681	0	0.0014	5008	,	,		8263	0		0	False		,,,				2504	0				Pancreas(133;719 1821 3197 26645 35015)	ENST00000380874.2																			0				large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1)	8						c.(1492-1494)cCg>cTg		forkhead box C1							16	13	14					6																	1612173		2172	4267	6439	SO:0001583	missense	2296				anti-apoptosis|artery morphogenesis|blood vessel remodeling|brain development|camera-type eye development|cardiac muscle cell proliferation|collagen fibril organization|embryonic heart tube development|germ cell migration|glycosaminoglycan metabolic process|lacrimal gland development|lymphangiogenesis|metanephros development|negative regulation of mitotic cell cycle|neural crest cell fate commitment|Notch signaling pathway|odontogenesis of dentine-containing tooth|ossification|ovarian follicle development|paraxial mesodermal cell fate commitment|positive regulation of transcription from RNA polymerase II promoter|regulation of blood vessel size|regulation of organ growth|regulation of sequence-specific DNA binding transcription factor activity|somitogenesis|ureteric bud development|vascular endothelial growth factor receptor signaling pathway|vasculogenesis|ventricular cardiac muscle tissue morphogenesis	nuclear heterochromatin|transcription factor complex	chromatin DNA binding|DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding	g.chr6:1612173C>T	AF048693	CCDS4473.1	6p25	2008-04-10			ENSG00000054598	ENSG00000054598		"Forkhead boxes"	3800	protein-coding gene	gene with protein product		601090		FKHL7, IRID1		7957066, 9620769	Standard	NM_001453		Approved	FREAC3, ARA, IGDA, IHG1	uc003mtp.3	Q12948	OTTHUMG00000016182	ENST00000380874.2:c.1493C>T	6.37:g.1612173C>T	ENSP00000370256:p.Pro498Leu						p.P498L	NM_001453.2	NP_001444.2	Q12948	FOXC1_HUMAN		Epithelial(2;0.0904)|OV - Ovarian serous cystadenocarcinoma(45;0.095)|all cancers(2;0.168)	1	1493	+	Ovarian(93;0.0733)	all_cancers(2;4.45e-07)|all_epithelial(2;4.33e-05)|all_lung(73;0.0713)|all_hematologic(90;0.0895)	498					Q86UP7|Q9BYM1|Q9NUE5|Q9UDD0|Q9UP06	Missense_Mutation	SNP	ENST00000380874.2	37	c.1493C>T	CCDS4473.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.4|20.4	3.978872|3.978872	0.74360|0.74360	.|.	.|.	ENSG00000054598|ENSG00000054598	ENST00000380874|ENST00000541209	D|.	0.89196|.	-2.48|.	3.26|3.26	3.26|3.26	0.37387|0.37387	.|.	0.276343|.	0.28296|.	U|.	0.015875|.	T|T	0.47248|0.47248	0.1435|0.1435	L|L	0.34521|0.34521	1.04|1.04	0.58432|0.58432	D|D	0.999998|0.999998	D|.	0.53619|.	0.961|.	B|.	0.40134|.	0.32|.	T|T	0.56360|0.56360	-0.7992|-0.7992	10|6	0.51188|0.66056	T|D	0.08|0.02	.|.	14.368|14.368	0.66820|0.66820	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	498|.	Q12948|.	FOXC1_HUMAN|.	L|W	498|193	ENSP00000370256:P498L|.	ENSP00000370256:P498L|ENSP00000438563:R193W	P|R	+|+	2|1	0|2	FOXC1|FOXC1	1557172|1557172	0.985000|0.985000	0.35326|0.35326	0.995000|0.995000	0.50966|0.50966	0.948000|0.948000	0.59901|0.59901	2.992000|2.992000	0.49417|0.49417	1.704000|1.704000	0.51252|0.51252	0.442000|0.442000	0.29010|0.29010	CCG|CGG		0.657	FOXC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043450.1			2	2	0	0	0	1	0	2	2					T	1612173	C	T	1612173	3	4	286	1	0	0	0	0	1	0	0	0	5994	652	23	2	1495	2	FOXC1	6	1612173	Missense_Mutation	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08		1612173	169502894	213	13343											
PRPF4B	8899	broad.mit.edu	37	chr6	4032804	4032806	+	In_Frame_Del	DEL	AAG	AAG	-																															agacctggtcgtagtcctaaAagaagaagtttgtctccaaa																										TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr6:4032804_4032806delAAG	ENST00000337659.6	+	2	1153_1155	c.1053_1055delAAG	c.(1051-1056)aaaaga>aaa	p.R353del	PRPF4B_ENST00000538861.1_In_Frame_Del_p.R339del	NM_003913.4	NP_003904.3	Q13523	PRP4B_HUMAN	pre-mRNA processing factor 4B	353	Arg/Lys-rich (basic).				mRNA splicing, via spliceosome (GO:0000398)|protein phosphorylation (GO:0006468)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|chromosome (GO:0005694)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(6)|endometrium(3)|large_intestine(5)|lung(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	22	Ovarian(93;0.0925)	all_hematologic(90;0.0895)				GTAGTCCTAAAAGAAGAAGTTTG	0.414																																						ENST00000337659.6																			0				breast(6)|endometrium(3)|large_intestine(5)|lung(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	22						c.(1051-1056)aaa>aa		pre-mRNA processing factor 4B																																				SO:0001651	inframe_deletion	8899					catalytic step 2 spliceosome	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr6:4032804_4032806delAAG	U48736	CCDS4488.1	6p24.2	2013-10-03	2013-10-03		ENSG00000112739	ENSG00000112739			17346	protein-coding gene	gene with protein product		602338	"PRP4 pre-mRNA processing factor 4 homolog B (yeast)"			9628581, 11418604	Standard	XR_241936		Approved	Prp4, PR4H, KIAA0536	uc003mvv.3	Q13523	OTTHUMG00000014157	ENST00000337659.6:c.1053_1055delAAG	6.37:g.4032810_4032812delAAG	ENSP00000337194:p.Arg353del					PRPF4B_ENST00000538861.1_In_Frame_Del_p.KR337del	p.KR351del	NM_003913.4	NP_003904.3	Q13523	PRP4B_HUMAN			2	1153_1155	+	Ovarian(93;0.0925)	all_hematologic(90;0.0895)	351			Arg/Lys-rich (basic).		A8K5C9|Q5D0F6|Q5TAY8|Q8IVC3|Q8TDP2|Q96QT7|Q9UEE6	In_Frame_Del	DEL	ENST00000337659.6	37	c.1053_1055delAAG	CCDS4488.1																																																																																				0.414	PRPF4B-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314018.2			14	81						14	81	---	---	---	---	-	4032806	AAG	-	4032804	7	5	286	1	0	1	0	1	0	0	0	0	12573	11	1	0	1059	0	PRPF4B	6	4032804	In_Frame_Del	DEL	AAG	TCGA-J9-A52C-01A-11D-A26M-08	2420631	4032804	167082263	214	13344											
GFOD1	54438	broad.mit.edu	37	chr6	13365808	13365808	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gttgcccatgatgctcatgaGcttggggtagtagtgggcgg	6	11	17	7	1	1	2	1	2	0	0	1	2	1	2	1	4	3	5	1	4	2	4			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr6:13365808G>A	ENST00000379287.3	-	2	1004	c.340C>T	c.(340-342)Ctc>Ttc	p.L114F	GFOD1_ENST00000379284.1_Missense_Mutation_p.L11F	NM_018988.3	NP_061861.1	Q9NXC2	GFOD1_HUMAN	glucose-fructose oxidoreductase domain containing 1	114						extracellular region (GO:0005576)	oxidoreductase activity (GO:0016491)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)	18	Breast(50;0.0296)|Ovarian(93;0.0454)	all_hematologic(90;0.135)	Epithelial(50;0.0348)|BRCA - Breast invasive adenocarcinoma(129;0.1)|all cancers(50;0.108)			ATGCTCATGAGCTTGGGGTAG	0.652																																						ENST00000379287.3																			0				central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)	18						c.(340-342)Ctc>Ttc		glucose-fructose oxidoreductase domain containing 1							75	76	75					6																	13365808		2201	4298	6499	SO:0001583	missense	54438					extracellular region	binding|oxidoreductase activity	g.chr6:13365808G>A	AK000337	CCDS4524.1, CCDS56397.1, CCDS64351.1	6p24.1-p23	2013-09-19			ENSG00000145990	ENSG00000145990			21096	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 114"	C6orf114			Standard	NM_018988		Approved	FLJ20330, ADG-90	uc003nat.2	Q9NXC2	OTTHUMG00000014276	ENST00000379287.3:c.340C>T	6.37:g.13365808G>A	ENSP00000368589:p.Leu114Phe					GFOD1_ENST00000379284.1_Missense_Mutation_p.L11F	p.L114F	NM_018988.3	NP_061861.1	Q9NXC2	GFOD1_HUMAN	Epithelial(50;0.0348)|BRCA - Breast invasive adenocarcinoma(129;0.1)|all cancers(50;0.108)		2	1004	-	Breast(50;0.0296)|Ovarian(93;0.0454)	all_hematologic(90;0.135)	114					A8E4L6|Q5T058|Q96JD4|Q9H5K2	Missense_Mutation	SNP	ENST00000379287.3	37	c.340C>T	CCDS4524.1	.	.	.	.	.	.	.	.	.	.	G	19.93	3.917482	0.73098	.	.	ENSG00000145990	ENST00000379287;ENST00000379284	T;T	0.60171	1.73;0.21	5.03	5.03	0.67393	NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	T	0.76898	0.4052	M	0.88570	2.965	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.82121	-0.0614	10	0.72032	D	0.01	-21.0781	17.34	0.87293	0.0:0.0:1.0:0.0	.	114	Q9NXC2	GFOD1_HUMAN	F	114;11	ENSP00000368589:L114F;ENSP00000368586:L11F	ENSP00000368586:L11F	L	-	1	0	GFOD1	13473787	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.640000	0.74319	2.314000	0.78098	0.650000	0.86243	CTC		0.652	GFOD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039902.1	NM_018988		22	138	0	0	0	1	0	22	138					A	13365808	G	A	13365808	3	1	286	1	0	0	0	0	1	0	0	0	6343	971	34	3	836	3	GFOD1	6	13365808	Missense_Mutation	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	9333004	13365808	157749259	215	13345											
GMPR	2766	broad.mit.edu	37	chr6	16254791	16254791	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcttggtttattttggtgcAgaatgtagccgtgagttcag	7	17	12	5	1	2	2	1	1	1	1	2	2	2	2	1	2	2	4	1	2	3	8			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr6:16254791A>G	ENST00000259727.4	+	4	405		c.e4-1			NM_006877.3	NP_006868.3	P36959	GMPR1_HUMAN	guanosine monophosphate reductase						nucleobase-containing small molecule metabolic process (GO:0055086)|nucleotide metabolic process (GO:0009117)|purine nucleobase metabolic process (GO:0006144)|purine-containing compound salvage (GO:0043101)|response to cold (GO:0009409)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|GMP reductase complex (GO:1902560)	GMP reductase activity (GO:0003920)|metal ion binding (GO:0046872)			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)	20	Breast(50;0.0427)|Ovarian(93;0.103)	all_hematologic(90;0.0895)				ATTTTGGTGCAGAATGTAGCC	0.468																																						ENST00000259727.4																			0				NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)	20						c.e4-1		guanosine monophosphate reductase							160	151	154					6																	16254791		2203	4300	6503	SO:0001630	splice_region_variant	2766				nucleotide metabolic process|purine base metabolic process|purine-containing compound salvage|response to cold	cytosol	GMP reductase activity|metal ion binding	g.chr6:16254791A>G		CCDS4537.1	6p23	2009-07-10			ENSG00000137198	ENSG00000137198	1.7.1.7		4376	protein-coding gene	gene with protein product		139265				2194676	Standard	NM_006877		Approved		uc003nbs.3	P36959	OTTHUMG00000014302	ENST00000259727.4:c.292-1A>G	6.37:g.16254791A>G								NM_006877.3	NP_006868.3	P36959	GMPR1_HUMAN			4	405	+	Breast(50;0.0427)|Ovarian(93;0.103)	all_hematologic(90;0.0895)						Q96HQ6	Splice_Site	SNP	ENST00000259727.4	37		CCDS4537.1	.	.	.	.	.	.	.	.	.	.	A	17.13	3.310081	0.60414	.	.	ENSG00000137198	ENST00000259727	.	.	.	5.65	5.65	0.86999	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.8909	0.79296	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	GMPR	16362770	1.000000	0.71417	0.878000	0.34440	0.474000	0.32979	8.940000	0.92958	2.146000	0.66826	0.533000	0.62120	.		0.468	GMPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039942.2		Intron	7	57	0	0	0	1	0	7	57					G	16254791	A	G	16254791	5	3	286	1	0	0	0	0	0	0	1	0	6496	202	7	4	304	4	GMPR	6	16254791	Splice_Site	SNP	A	TCGA-J9-A52C-01A-11D-A26M-08	2888983	16254791	154860276	216	13346											
GMPR	2766	broad.mit.edu	37	chr6	16279025	16279025	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctctgtgcaggttctgtgtgCaccacccgcaccaagacggg	7	8	12	14	2	2	1	0	0	2	1	2	1	2	1	3	2	2	4	3	2	1	1			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr6:16279025C>T	ENST00000259727.4	+	6	672	c.558C>T	c.(556-558)tgC>tgT	p.C186C		NM_006877.3	NP_006868.3	P36959	GMPR1_HUMAN	guanosine monophosphate reductase	186					nucleobase-containing small molecule metabolic process (GO:0055086)|nucleotide metabolic process (GO:0009117)|purine nucleobase metabolic process (GO:0006144)|purine-containing compound salvage (GO:0043101)|response to cold (GO:0009409)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|GMP reductase complex (GO:1902560)	GMP reductase activity (GO:0003920)|metal ion binding (GO:0046872)			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)	20	Breast(50;0.0427)|Ovarian(93;0.103)	all_hematologic(90;0.0895)				GTTCTGTGTGCACCACCCGCA	0.547																																						ENST00000259727.4																			0				NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)	20						c.(556-558)tgC>tgT		guanosine monophosphate reductase							81	70	74					6																	16279025		2203	4300	6503	SO:0001819	synonymous_variant	2766				nucleotide metabolic process|purine base metabolic process|purine-containing compound salvage|response to cold	cytosol	GMP reductase activity|metal ion binding	g.chr6:16279025C>T		CCDS4537.1	6p23	2009-07-10			ENSG00000137198	ENSG00000137198	1.7.1.7		4376	protein-coding gene	gene with protein product		139265				2194676	Standard	NM_006877		Approved		uc003nbs.3	P36959	OTTHUMG00000014302	ENST00000259727.4:c.558C>T	6.37:g.16279025C>T							p.C186C	NM_006877.3	NP_006868.3	P36959	GMPR1_HUMAN			6	672	+	Breast(50;0.0427)|Ovarian(93;0.103)	all_hematologic(90;0.0895)	186					Q96HQ6	Silent	SNP	ENST00000259727.4	37	c.558C>T	CCDS4537.1																																																																																				0.547	GMPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039942.2			5	51	0	0	0	1	0	5	51					T	16279025	C	T	16279025	2	4	286	1	0	0	0	0	0	0	0	1	6496	718	25	3		3	GMPR	6	16279025	Silent	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	24234	16279025	154836042	217	13347											
KIF13A	63971	broad.mit.edu	37	chr6	17800327	17800327	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtaacacgcatcacttccacGtggagacgccctgcaacctg	10	7	9	15	3	1	1	1	0	0	1	2	2	2	1	3	1	3	3	3	1	2	2	rs374925875	byFrequency	TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr6:17800327G>A	ENST00000259711.6	-	21	2577	c.2472C>T	c.(2470-2472)caC>caT	p.H824H	KIF13A_ENST00000378816.5_Silent_p.H824H|KIF13A_ENST00000378843.2_Silent_p.H824H|KIF13A_ENST00000378814.5_Silent_p.H824H|KIF13A_ENST00000378826.2_Silent_p.H824H	NM_022113.5	NP_071396.4	Q9H1H9	KI13A_HUMAN	kinesin family member 13A	824					ATP catabolic process (GO:0006200)|cargo loading into vesicle (GO:0035459)|cytokinesis (GO:0000910)|endosome to lysosome transport (GO:0008333)|Golgi to plasma membrane protein transport (GO:0043001)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|plus-end-directed vesicle transport along microtubule (GO:0072383)	centrosome (GO:0005813)|endosome membrane (GO:0010008)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|midbody (GO:0030496)|trans-Golgi network membrane (GO:0032588)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	64	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	all cancers(50;0.0865)|Epithelial(50;0.0974)			TCACTTCCACGTGGAGACGCC	0.542													G|||	2	0.000399361	0.0015	0	5008	,	,		20022	0		0	False		,,,				2504	0					ENST00000378814.5																			0				breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	64						c.(2470-2472)caC>caT		kinesin family member 13A		G	,,,	4,4258		0,4,2127	65	66	66		2472,2472,2472,2472	-5.4	0.5	6		66	0,8496		0,0,4248	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	KIF13A	NM_001105566.2,NM_001105567.2,NM_001105568.2,NM_022113.5	,,,	0,4,6375	AA,AG,GG		0.0,0.0939,0.0314	,,,	824/1771,824/1758,824/1750,824/1806	17800327	4,12754	2131	4248	6379	SO:0001819	synonymous_variant	63971				cargo loading into vesicle|cell cycle|cytokinesis|endosome to lysosome transport|Golgi to plasma membrane protein transport|melanosome organization|plus-end-directed vesicle transport along microtubule	centrosome|endosome membrane|microtubule|midbody|trans-Golgi network membrane	ATP binding|microtubule motor activity|protein binding	g.chr6:17800327G>A	AJ291578	CCDS47380.1, CCDS47381.1, CCDS54967.1, CCDS54968.1, CCDS58998.1	6p23	2008-10-21			ENSG00000137177	ENSG00000137177		"Kinesins"	14566	protein-coding gene	gene with protein product		605433				11106728	Standard	NM_022113		Approved	bA500C11.2	uc003ncg.4	Q9H1H9	OTTHUMG00000014313	ENST00000259711.6:c.2472C>T	6.37:g.17800327G>A						KIF13A_ENST00000378843.2_Silent_p.H824H|KIF13A_ENST00000259711.6_Silent_p.H824H|KIF13A_ENST00000378816.5_Silent_p.H824H|KIF13A_ENST00000378826.2_Silent_p.H824H	p.H824H	NM_001105568.2	NP_001099038.1	Q9H1H9	KI13A_HUMAN	all cancers(50;0.0865)|Epithelial(50;0.0974)		21	2471	-	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	824					A0JP21|A0JP22|F2Z382|Q5THQ2|Q5THQ3|Q9H193|Q9H194|Q9H1H8	Silent	SNP	ENST00000259711.6	37	c.2472C>T	CCDS47381.1	.	.	.	.	.	.	.	.	.	.	G	7.962	0.747143	0.15710	9.39E-4	0.0	ENSG00000137177	ENST00000358380	.	.	.	5.33	-5.45	0.02616	.	.	.	.	.	T	0.53498	0.1800	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.63514	-0.6620	4	.	.	.	.	17.6923	0.88271	0.7886:0.0:0.2114:0.0	.	.	.	.	M	218	.	.	T	-	2	0	KIF13A	17908306	0.051000	0.20477	0.495000	0.27527	0.968000	0.65278	-0.542000	0.06091	-1.921000	0.01068	-0.793000	0.03317	ACG		0.542	KIF13A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000039954.4			8	36	0	0	0	1	0	8	36					A	17800327	G	A	17800327	2	1	286	1	0	0	0	0	0	0	0	1	8274	1136	40	1		1	KIF13A	6	17800327	Silent	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	1521302	17800327	153314740	218	13348											
DCDC2	353219	broad.mit.edu	37	chr6	24357937	24357937	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acaagcacgctcttcacgacGggctgagacaggtggctgga	10	6	14	11	3	2	1	1	1	1	1	2	4	2	2	0	4	1	4	0	4	1	1			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr6:24357937G>A	ENST00000274766.1	+	1	807	c.70G>A	c.(70-72)Ggg>Agg	p.G24R	DCDC2_ENST00000378454.3_Silent_p.P14P	NM_181337.3	NP_851854.1	Q9UBP8	KAAG1_HUMAN	kidney associated antigen 1	24					immune response (GO:0006955)					central_nervous_system(1)|lung(1)|prostate(1)	3						TCTTCACGACGGGCTGAGACA	0.667																																						ENST00000274766.1																			0				central_nervous_system(1)|lung(1)|prostate(1)	3						c.(70-72)Ggg>Agg		kidney associated antigen 1							38	39	39					6																	24357937		2203	4299	6502	SO:0001583	missense	353219				immune response			g.chr6:24357937G>A	AF181722	CCDS4551.1	6p22.1	2010-11-23			ENSG00000146049	ENSG00000146049			21031	protein-coding gene	gene with protein product		608211				10601354	Standard	NM_181337		Approved	RU2, RU2AS	uc003ndz.1	Q9UBP8	OTTHUMG00000014354	ENST00000274766.1:c.70G>A	6.37:g.24357937G>A	ENSP00000274766:p.Gly24Arg					DCDC2_ENST00000378454.3_Silent_p.P14P	p.G24R	NM_181337.3	NP_851854.1	Q9UBP8	KAAG1_HUMAN			1	807	+			24						Missense_Mutation	SNP	ENST00000274766.1	37	c.70G>A	CCDS4551.1	.	.	.	.	.	.	.	.	.	.	G	14.35	2.508692	0.44660	.	.	ENSG00000146049	ENST00000274766	.	.	.	5.33	-2.08	0.07254	.	.	.	.	.	T	0.10594	0.0259	.	.	.	0.23510	N	0.997527	B	0.13594	0.008	B	0.09377	0.004	T	0.33085	-0.9882	7	0.87932	D	0	-6.4495	2.2731	0.04095	0.1897:0.2278:0.3907:0.1919	.	24	Q9UBP8	KAAG1_HUMAN	R	24	.	ENSP00000274766:G24R	G	+	1	0	KAAG1	24465916	0.016000	0.18221	0.996000	0.52242	0.947000	0.59692	-0.971000	0.03806	-0.065000	0.13021	-1.319000	0.01295	GGG		0.667	KAAG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040001.1			12	73	0	0	0	1	0	12	73					A	24357937	G	A	24357937	3	1	286	1	0	0	0	0	1	0	0	0	4285	1116	39	2	1428	2	DCDC2	6	24357937	Missense_Mutation	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	6557610	24357937	146757130	219	13349											
HIST1H3B	8358	broad.mit.edu	37	chr6	26031878	26031878	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atgaaaaagtgactttacatTtacgctctttctccgcgaat	12	14	6	9	3	2	2	0	2	2	0	3	3	2	2	1	0	2	1	1	0	5	5			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr6:26031878T>C	ENST00000244661.2	-	1	410	c.411A>G	c.(409-411)taA>taG	p.*137*		NM_003537.3	NP_003528.1	P68431	H31_HUMAN	histone cluster 1, H3b	0					blood coagulation (GO:0007596)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|regulation of gene silencing (GO:0060968)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)			breast(3)|central_nervous_system(10)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|skin(1)	25						GACTTTACATTTACGCTCTTT	0.438																																						ENST00000244661.2																			0				breast(3)|central_nervous_system(10)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|skin(1)	25						c.(409-411)taA>taG		histone cluster 1, H3b							50	55	53					6																	26031878		2203	4300	6503	SO:0001819	synonymous_variant	8358				blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding	g.chr6:26031878T>C	X00090	CCDS4573.1	6p22.1	2011-01-27	2006-10-11	2003-03-14	ENSG00000124693	ENSG00000274267		"Histones / Replication-dependent"	4776	protein-coding gene	gene with protein product		602819	"H3 histone family, member L", "histone 1, H3b"	H3FL		6647026, 9119399, 12408966	Standard	NM_003537		Approved	H3/l	uc003nfs.1	P68431	OTTHUMG00000014415	ENST00000244661.2:c.411A>G	6.37:g.26031878T>C							p.*137*	NM_003537.3	NP_003528.1	P68431	H31_HUMAN			1	410	-			0					A0PJT7|A5PLR1|P02295|P02296|P16106|Q6ISV8|Q6NWP8|Q6NWP9|Q6NXU4|Q71DJ3|Q93081	Silent	SNP	ENST00000244661.2	37	c.411A>G	CCDS4573.1																																																																																				0.438	HIST1H3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040077.1	NM_003537		10	44	0	0	0	1	0	10	44					C	26031878	T	C	26031878	2	2	286	1	0	0	0	0	0	0	0	1	7156	1848	64	4		4	HIST1H3B	6	26031878	Silent	SNP	T	TCGA-J9-A52C-01A-11D-A26M-08	1673941	26031878	145083189	220	13350											
HIST1H2AH	85235	broad.mit.edu	37	chr6	27115008	27115008	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtgggccgagtgcaccgccTgctccgcaagggtaattatg	7	8	14	12	4	0	0	0	0	0	0	1	1	1	0	4	2	2	4	4	2	3	2			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr6:27115008T>C	ENST00000377459.1	+	1	148	c.101T>C	c.(100-102)cTg>cCg	p.L34P	MIR3143_ENST00000584253.1_RNA|HIST1H2BK_ENST00000356950.1_5'Flank|HIST1H2BK_ENST00000396891.4_5'Flank	NM_080596.1	NP_542163.1	Q96KK5	H2A1H_HUMAN	histone cluster 1, H2ah	34						extracellular vesicular exosome (GO:0070062)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.L34R(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(7)|prostate(1)|skin(1)	12						GTGCACCGCCTGCTCCGCAAG	0.652																																						ENST00000377459.1																			1	Substitution - Missense(1)	p.L34R(1)	lung(1)	breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(7)|prostate(1)|skin(1)	12						c.(100-102)cTg>cCg		histone cluster 1, H2ah							44	49	47					6																	27115008		2203	4300	6503	SO:0001583	missense	85235				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr6:27115008T>C	AY131988	CCDS4622.1	6p22.1	2011-01-27	2006-10-11			ENSG00000274997		"Histones / Replication-dependent"	13671	protein-coding gene	gene with protein product		615013	"histone 1, H2ah"			12408966	Standard	NM_080596		Approved	H2AFALii, dJ86C11.1, H2A/S	uc003niz.4	Q96KK5		ENST00000377459.1:c.101T>C	6.37:g.27115008T>C	ENSP00000366679:p.Leu34Pro						p.L34P	NM_080596.1	NP_542163.1	Q96KK5	H2A1H_HUMAN			1	148	+			34						Missense_Mutation	SNP	ENST00000377459.1	37	c.101T>C	CCDS4622.1	.	.	.	.	.	.	.	.	.	.	T	5.294	0.239652	0.10023	.	.	ENSG00000184825	ENST00000377459	T	0.68479	-0.33	3.95	3.95	0.45737	Histone-fold (2);Histone core (1);Histone H2A (2);	0.000000	0.32287	N	0.006301	T	0.58018	0.2093	M	0.83384	2.64	0.49798	D	0.999829	B	0.28636	0.218	B	0.30495	0.116	T	0.68640	-0.5355	10	0.87932	D	0	.	11.4199	0.49976	0.0:0.0:0.0:1.0	.	34	Q96KK5	H2A1H_HUMAN	P	34	ENSP00000366679:L34P	ENSP00000366679:L34P	L	+	2	0	HIST1H2AH	27222987	0.994000	0.37717	0.470000	0.27216	0.001000	0.01503	5.445000	0.66594	1.740000	0.51718	0.533000	0.62120	CTG		0.652	HIST1H2AH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040136.1	NM_080596		9	48	0	0	0	1	0	9	48					C	27115008	T	C	27115008	3	2	286	1	0	0	0	0	1	0	0	0	7134	1580	55	4	103	4	HIST1H2AH	6	27115008	Missense_Mutation	SNP	T	TCGA-J9-A52C-01A-11D-A26M-08	1083130	27115008	144000059	221	13351											
ABCF1	23	broad.mit.edu	37	chr6	30550275	30550276	+	Frame_Shift_Ins	INS	-	-	A																															aaaaggagaagaaaaagctgINSaaaaaacaggtaagaccttg																										TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr6:30550275_30550276insA	ENST00000326195.8	+	9	895_896	c.783_784insA	c.(784-786)aaafs	p.K262fs	ABCF1_ENST00000396515.4_Intron|ABCF1_ENST00000376545.3_Intron|MIR877_ENST00000401282.1_RNA	NM_001025091.1	NP_001020262.1	Q8NE71	ABCF1_HUMAN	ATP-binding cassette, sub-family F (GCN20), member 1	262					inflammatory response (GO:0006954)|positive regulation of translation (GO:0045727)|translation (GO:0006412)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|polysomal ribosome (GO:0042788)|ribosome (GO:0005840)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|poly(A) RNA binding (GO:0044822)|ribosome binding (GO:0043022)|translation activator activity (GO:0008494)|translation factor activity, nucleic acid binding (GO:0008135)			breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(3)|skin(2)	21						AGAAAAAGCTGAAAAAACAGGT	0.45																																						ENST00000326195.8																			0				breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(3)|skin(2)	21						c.(781-786)ctaaaafs		ATP-binding cassette, sub-family F (GCN20), member 1																																				SO:0001589	frameshift_variant	23				inflammatory response|translational initiation	nuclear envelope|nucleoplasm|polysomal ribosome	ATP binding|ATPase activity|protein binding|ribosome binding|translation activator activity|translation factor activity, nucleic acid binding	g.chr6:30550275_30550276insA	AF027302	CCDS34380.1, CCDS34381.1	6p21.33	2012-03-14			ENSG00000204574	ENSG00000204574		"ATP binding cassette transporters / subfamily F"	70	protein-coding gene	gene with protein product		603429		ABC50		9790762	Standard	NM_001025091		Approved	EST123147	uc003nql.3	Q8NE71	OTTHUMG00000031094	ENST00000326195.8:c.789dupA	6.37:g.30550281_30550281dupA	ENSP00000313603:p.Lys262fs					ABCF1_ENST00000396515.4_Intron|ABCF1_ENST00000376545.3_Intron	p.LK261fs	NM_001025091.1	NP_001020262.1	Q8NE71	ABCF1_HUMAN			9	895_896	+			261					A2BF75|O14897|Q69YP6	Frame_Shift_Ins	INS	ENST00000326195.8	37	c.783_784insA	CCDS34380.1																																																																																				0.45	ABCF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000076137.3			14	46						14	46	---	---	---	---	A	30550276	-	A	30550275	7	5	286	1	0	1	1	0	0	0	0	0	65	1277	45	0	817	0	ABCF1	6	30550275	Frame_Shift_Ins	INS	-	TCGA-J9-A52C-01A-11D-A26M-08	3435267	30550275	140564792	222	13352											
DHX16	8449	broad.mit.edu	37	chr6	30627570	30627570	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgggtcacatggatctgcaaCacagatactacacaagcttc	13	9	8	11	0	2	1	1	0	1	1	3	2	2	2	0	2	5	2	0	2	4	3			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr6:30627570C>T	ENST00000376442.3	-	11	1992	c.1797G>A	c.(1795-1797)gtG>gtA	p.V599V	DHX16_ENST00000480966.1_5'UTR|DHX16_ENST00000376437.5_Silent_p.V118V	NM_001164239.1|NM_003587.4	NP_001157711.1|NP_003578.2	O60231	DHX16_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 16	599	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724)			kidney(2)|ovary(2)	4						GGATCTGCAACACAGATACTA	0.562																																						ENST00000376442.3																			0				kidney(2)|ovary(2)	4						c.(1795-1797)gtG>gtA		DEAH (Asp-Glu-Ala-His) box polypeptide 16							93	90	91					6																	30627570		2203	4300	6503	SO:0001819	synonymous_variant	8449				mRNA processing|RNA splicing	nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|RNA helicase activity	g.chr6:30627570C>T	AB001601	CCDS4685.1	6p21.3	2010-02-17	2003-06-13	2003-06-20	ENSG00000204560	ENSG00000204560		"DEAH-boxes"	2739	protein-coding gene	gene with protein product		603405	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 16"	DDX16		9547260	Standard	NM_003587		Approved	DBP2, Prp2, PRPF2	uc003nqz.3	O60231	OTTHUMG00000031060	ENST00000376442.3:c.1797G>A	6.37:g.30627570C>T						DHX16_ENST00000376437.5_Silent_p.V118V|DHX16_ENST00000480966.1_5'UTR	p.V599V	NM_001164239.1|NM_003587.4	NP_001157711.1|NP_003578.2	O60231	DHX16_HUMAN			11	1992	-			599			Helicase C-terminal.		O60322|Q5JP45|Q969X7|Q96QC1	Silent	SNP	ENST00000376442.3	37	c.1797G>A	CCDS4685.1																																																																																				0.562	DHX16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076076.2	NM_003587		8	36	0	0	0	1	0	8	36					T	30627570	C	T	30627570	2	4	286	1	0	0	0	0	0	0	0	1	4502	465	17	3		3	DHX16	6	30627570	Silent	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	77295	30627570	140487497	223	13353											
TAP1	6890	broad.mit.edu	37	chr6	32814903	32814903	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	catccaggataagtacacacGgtttccggatcaatgctcgg	11	9	10	11	3	1	0	1	0	0	0	4	2	3	2	2	4	2	3	2	4	3	3			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr6:32814903G>A	ENST00000354258.4	-	10	2323	c.2162C>T	c.(2161-2163)cCg>cTg	p.P721L	PSMB8_ENST00000374881.2_5'Flank|TAP1_ENST00000425148.2_Missense_Mutation_p.P460L|TAPSAR1_ENST00000453426.1_lincRNA|PSMB9_ENST00000395330.1_Intron	NM_000593.5	NP_000584.2	Q03518	TAP1_HUMAN	transporter 1, ATP-binding cassette, sub-family B (MDR/TAP)	721	ABC transporter. {ECO:0000255|PROSITE- ProRule:PRU00434}.				antigen processing and presentation of endogenous peptide antigen via MHC class I (GO:0019885)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytosol to ER transport (GO:0046967)|defense response (GO:0006952)|intracellular transport of viral protein in host cell (GO:0019060)|peptide transport (GO:0015833)|transmembrane transport (GO:0055085)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrion (GO:0005739)|TAP complex (GO:0042825)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|MHC class Ib protein binding (GO:0023029)|peptide antigen binding (GO:0042605)|peptide transporter activity (GO:0015197)|protein homodimerization activity (GO:0042803)|TAP1 binding (GO:0046978)|TAP2 binding (GO:0046979)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(4)|prostate(1)|skin(1)	21					Lapatinib(DB01259)	AAGTACACACGGTTTCCGGAT	0.557																																						ENST00000354258.4																			0				breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(4)|prostate(1)|skin(1)	21						c.(2161-2163)cCg>cTg		transporter 1, ATP-binding cassette, sub-family B (MDR/TAP)							147	133	138					6																	32814903		1511	2709	4220	SO:0001583	missense	6890				antigen processing and presentation of endogenous peptide antigen via MHC class I|cytosol to ER transport|intracellular transport of viral proteins in host cell|positive regulation of T cell mediated cytotoxicity	cytosol|plasma membrane|TAP complex	ADP binding|ATP binding|MHC class I protein binding|oligopeptide-transporting ATPase activity|peptide antigen binding|protein homodimerization activity|TAP1 binding|TAP2 binding|tapasin binding	g.chr6:32814903G>A		CCDS4758.1	6p21.3	2014-09-17			ENSG00000168394	ENSG00000168394		"ATP binding cassette transporters / subfamily B"	43	protein-coding gene	gene with protein product		170260		ABCB2		1529427, 1946428	Standard	NM_000593		Approved	PSF1, RING4, D6S114E	uc003ocg.3	Q03518	OTTHUMG00000031067	ENST00000354258.4:c.2162C>T	6.37:g.32814903G>A	ENSP00000346206:p.Pro721Leu					PSMB9_ENST00000395330.1_Intron|TAP1_ENST00000425148.2_Missense_Mutation_p.P460L	p.P721L	NM_000593.5	NP_000584.2	Q03518	TAP1_HUMAN			10	2323	-			721			ABC transporter.		Q16149|Q96CP4	Missense_Mutation	SNP	ENST00000354258.4	37	c.2162C>T	CCDS4758.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.379034	0.82682	.	.	ENSG00000168394	ENST00000354258;ENST00000425148	D;D	0.94897	-3.55;-3.55	5.16	5.16	0.70880	ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.000000	0.44902	D	0.000414	D	0.98112	0.9377	H	0.96239	3.79	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99421	1.0933	10	0.87932	D	0	-2.4396	16.1585	0.81681	0.0:0.0:1.0:0.0	.	721	Q03518	TAP1_HUMAN	L	721;460	ENSP00000346206:P721L;ENSP00000401919:P460L	ENSP00000346206:P721L	P	-	2	0	TAP1	32922881	1.000000	0.71417	0.627000	0.29227	0.677000	0.39632	8.643000	0.91040	2.411000	0.81874	0.643000	0.83706	CCG		0.557	TAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076087.2	NM_000593		16	78	0	0	0	1	0	16	78					A	32814903	G	A	32814903	3	1	286	1	0	0	0	0	1	0	0	0	15547	1116	39	2	272	2	TAP1	6	32814903	Missense_Mutation	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	2187333	32814903	138300164	224	13354											
SLC39A7	7922	broad.mit.edu	37	chr6	33171401	33171401	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actgaaggaggagcagtgggCagtgaaattgcaggtggtgc	11	7	18	5	0	0	2	0	2	0	0	0	4	0	4	0	5	3	3	0	5	2	1			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr6:33171401C>T	ENST00000374677.3	+	7	1594	c.1221C>T	c.(1219-1221)ggC>ggT	p.G407G	RXRB_ENST00000413614.2_5'Flank|SLC39A7_ENST00000463972.1_3'UTR|RXRB_ENST00000374680.3_5'Flank|SLC39A7_ENST00000374675.3_Silent_p.G407G|RXRB_ENST00000544186.1_5'Flank|HSD17B8_ENST00000374662.3_5'Flank	NM_006979.2	NP_008910.2	Q92504	S39A7_HUMAN	solute carrier family 39 (zinc transporter), member 7	407				CALLTEGGAVGSEIAGGAGPGWVLPFTAGGFIYVATVSVLP ELLREASPLQSLLEVLGLLGGVIMMVLIAHLE -> VPFSL KEEQWTVKLQVVQVLAGSCHLLQVALST (in Ref. 1; BAA11528 and 2; AAD12305). {ECO:0000305}.	transmembrane transport (GO:0055085)|zinc ion transport (GO:0006829)	endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	metal ion transmembrane transporter activity (GO:0046873)			NS(1)|breast(3)|endometrium(2)|large_intestine(5)|lung(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	18						GAGCAGTGGGCAGTGAAATTG	0.567																																						ENST00000374677.3																			0				NS(1)|breast(3)|endometrium(2)|large_intestine(5)|lung(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	18						c.(1219-1221)ggC>ggT		solute carrier family 39 (zinc transporter), member 7							96	100	99					6																	33171401		2061	4189	6250	SO:0001819	synonymous_variant	7922					endoplasmic reticulum membrane|integral to membrane|membrane fraction	protein binding|zinc ion transmembrane transporter activity	g.chr6:33171401C>T	AF117221	CCDS43453.1	6p21.3	2014-01-28		2003-10-27	ENSG00000112473	ENSG00000112473		"Solute carriers"	4927	protein-coding gene	gene with protein product		601416	"HLA class II region expressed gene KE4"	HKE4		8812499, 1855816, 19246244, 15705588	Standard	NM_006979		Approved	H2-KE4, D6S2244E, KE4, RING5, ZIP7	uc003odf.3	Q92504	OTTHUMG00000031238	ENST00000374677.3:c.1221C>T	6.37:g.33171401C>T						SLC39A7_ENST00000463972.1_3'UTR|SLC39A7_ENST00000374675.3_Silent_p.G407G	p.G407G	NM_006979.2	NP_008910.2	Q92504	S39A7_HUMAN			7	1594	+			407	CALLTEGGAVGSEIAGGAGPGWVLPFTAGGFIYVATVSVLP ELLREASPLQSLLEVLGLLGGVIMMVLIAHLE -> VPFSL KEEQWTVKLQVVQVLAGSCHLLQVALST (in Ref. 1; BAA11528 and 2; AAD12305).				B0UXF6|Q5STP8|Q9UIQ0	Silent	SNP	ENST00000374677.3	37	c.1221C>T	CCDS43453.1																																																																																				0.567	SLC39A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076499.2	NM_006979		5	77	0	0	0	1	0	5	77					T	33171401	C	T	33171401	2	4	286	1	0	0	0	0	0	0	0	1	14623	697	25	3		3	SLC39A7	6	33171401	Silent	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	356498	33171401	137943666	225	13355											
VPS52	6293	broad.mit.edu	37	chr6	33236870	33236870	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgcctggcgatttcgaagtcGaatgttcatggctcctgact	7	13	11	10	3	1	1	1	1	0	0	4	4	2	1	2	2	1	2	2	2	2	2			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr6:33236870G>A	ENST00000445902.2	-	6	687	c.469C>T	c.(469-471)Cga>Tga	p.R157*	VPS52_ENST00000482399.1_3'UTR|RPS18_ENST00000474973.1_5'Flank|VPS52_ENST00000478934.1_5'UTR|RPS18_ENST00000439602.2_5'Flank|VPS52_ENST00000436044.2_Nonsense_Mutation_p.R32*	NM_022553.4	NP_072047.4	Q8N1B4	VPS52_HUMAN	vacuolar protein sorting 52 homolog (S. cerevisiae)	157					ectodermal cell differentiation (GO:0010668)|embryonic ectodermal digestive tract development (GO:0048611)|protein transport (GO:0015031)	endosome (GO:0005768)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(8)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	28						TTTCGAAGTCGAATGTTCATG	0.537																																						ENST00000445902.2																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(8)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	28						c.(469-471)Cga>Tga		vacuolar protein sorting 52 homolog (S. cerevisiae)							228	217	221					6																	33236870		1511	2709	4220	SO:0001587	stop_gained	6293				protein transport	endosome membrane|Golgi apparatus		g.chr6:33236870G>A	AJ223319	CCDS4770.2	6p21.3	2010-02-17	2006-12-19	2003-09-05	ENSG00000223501	ENSG00000223501			10518	protein-coding gene	gene with protein product		603443	"SAC2 suppressor of actin mutations 2-like (yeast)", "vacuolar protein sorting 52 (yeast)"	SACM2L		9790748	Standard	NM_022553		Approved	ARE1	uc003odm.1	Q8N1B4	OTTHUMG00000031276	ENST00000445902.2:c.469C>T	6.37:g.33236870G>A	ENSP00000409952:p.Arg157*					VPS52_ENST00000436044.2_Nonsense_Mutation_p.R32*|VPS52_ENST00000478934.1_5'UTR|VPS52_ENST00000482399.1_3'UTR	p.R157*	NM_022553.4	NP_072047.4	Q8N1B4	VPS52_HUMAN			6	687	-			157					A2BF38|B0UZZ4|B4DNI9|Q53GR4|Q5JPA0|Q5SQW1|Q8IUN6|Q9NPT5	Nonsense_Mutation	SNP	ENST00000445902.2	37	c.469C>T	CCDS4770.2	.	.	.	.	.	.	.	.	.	.	G	38	6.959857	0.97964	.	.	ENSG00000223501	ENST00000445902;ENST00000418054;ENST00000436044	.	.	.	5.0	5.0	0.66597	.	0.056566	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.11182	T	0.66	-11.008	11.1191	0.48277	0.0:0.0:0.8157:0.1843	.	.	.	.	X	157;135;32	.	ENSP00000414785:R135X	R	-	1	2	VPS52	33344848	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	1.760000	0.38430	2.776000	0.95493	0.573000	0.79308	CGA		0.537	VPS52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076598.2	NM_022553		24	107	0	0	0	1	0	24	107					A	33236870	G	A	33236870	4	1	286	1	0	0	0	0	0	1	0	0	17211	1066	37	2	1762	2	VPS52	6	33236870	Nonsense_Mutation	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	65469	33236870	137878197	226	13356											
PHF1	5252	broad.mit.edu	37	chr6	33383810	33383810	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	accctgtccgggtccttgctCggagagtacggcctgatggc	5	9	14	13	3	0	2	0	1	0	1	3	3	2	2	4	4	2	2	4	4	1	2			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr6:33383810C>T	ENST00000374516.3	+	15	1910	c.1639C>T	c.(1639-1641)Cgg>Tgg	p.R547W	CUTA_ENST00000492510.1_5'Flank|PHF1_ENST00000374512.3_3'UTR	NM_024165.2	NP_077084.1	O43189	PHF1_HUMAN	PHD finger protein 1	547					cellular response to DNA damage stimulus (GO:0006974)|chromatin modification (GO:0016568)|negative regulation of histone H3-K27 methylation (GO:0061086)|positive regulation of histone H3-K27 methylation (GO:0061087)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)	methylated histone binding (GO:0035064)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(5)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19		Ovarian(999;0.0443)				GGTCCTTGCTCGGAGAGTACG	0.632																																						ENST00000374516.3																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(5)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19						c.(1639-1641)Cgg>Tgg		PHD finger protein 1							86	85	85					6																	33383810		2203	4300	6503	SO:0001583	missense	5252				chromatin modification	nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr6:33383810C>T	AF029678	CCDS4777.1, CCDS4778.1	6p21.3	2013-01-28			ENSG00000112511	ENSG00000112511		"Tudor domain containing", "Zinc fingers, PHD-type"	8919	protein-coding gene	gene with protein product	"tudor domain containing 19C"	602881				9545646, 18385154	Standard	NM_024165		Approved	MTF2L2, TDRD19C	uc003oeh.3	O43189	OTTHUMG00000031105	ENST00000374516.3:c.1639C>T	6.37:g.33383810C>T	ENSP00000363640:p.Arg547Trp					PHF1_ENST00000374512.3_3'UTR	p.R547W	NM_024165.2	NP_077084.1	O43189	PHF1_HUMAN			15	1910	+		Ovarian(999;0.0443)	547					B1AZX2|B1AZX3|O60929|Q5SU07|Q5SU08|Q96KM7	Missense_Mutation	SNP	ENST00000374516.3	37	c.1639C>T	CCDS4777.1	.	.	.	.	.	.	.	.	.	.	C	16.67	3.188423	0.57909	.	.	ENSG00000112511	ENST00000374516;ENST00000427826	T	0.36157	1.27	4.54	3.63	0.41609	.	0.000000	0.53938	D	0.000054	T	0.32912	0.0845	L	0.55990	1.75	0.42052	D	0.991125	D	0.76494	0.999	P	0.57960	0.83	T	0.08994	-1.0695	9	.	.	.	-12.0456	9.4203	0.38548	0.2433:0.7567:0.0:0.0	.	547	O43189	PHF1_HUMAN	W	547;161	ENSP00000363640:R547W	.	R	+	1	2	PHF1	33491788	0.998000	0.40836	1.000000	0.80357	0.993000	0.82548	2.095000	0.41729	1.065000	0.40693	0.655000	0.94253	CGG		0.632	PHF1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076175.3			19	115	0	0	0	1	0	19	115					T	33383810	C	T	33383810	3	4	286	1	0	0	0	0	1	0	0	0	11820	875	31	2	1693	2	PHF1	6	33383810	Missense_Mutation	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	146940	33383810	137731257	227	13357											
TULP1	7287	broad.mit.edu	37	chr6	35471598	35471598	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctgcccgttgtcaaagacCgtgaagcggttccccaggag	8	9	12	12	3	2	2	1	1	1	1	3	3	3	3	4	2	2	2	4	2	2	3	rs145986072		TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr6:35471598C>T	ENST00000229771.6	-	12	1219	c.1140G>A	c.(1138-1140)acG>acA	p.T380T	TULP1_ENST00000322263.4_Silent_p.T327T	NM_003322.3	NP_003313.3	O00294	TULP1_HUMAN	tubby like protein 1	380					dendrite development (GO:0016358)|detection of light stimulus involved in visual perception (GO:0050908)|eye photoreceptor cell development (GO:0042462)|phagocytosis (GO:0006909)|photoreceptor cell maintenance (GO:0045494)|phototransduction (GO:0007602)|positive regulation of phagocytosis (GO:0050766)|retina development in camera-type eye (GO:0060041)|retina homeostasis (GO:0001895)|visual perception (GO:0007601)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|synapse (GO:0045202)	actin filament binding (GO:0051015)|G-protein coupled photoreceptor activity (GO:0008020)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	19						TGTCAAAGACCGTGAAGCGGT	0.612																																					GBM(55;1027 1091 11115 23439)	ENST00000229771.6																			0				central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	19						c.(1138-1140)acG>acA		tubby like protein 1		C		0,4406		0,0,2203	49	43	45		1140	-9.9	0.4	6	dbSNP_134	45	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	TULP1	NM_003322.3		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		380/543	35471598	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	7287				dendrite development|eye photoreceptor cell development|phagocytosis|photoreceptor cell maintenance|positive regulation of phagocytosis	cell junction|cytoplasm|extracellular region|photoreceptor inner segment|photoreceptor outer segment|synapse	actin filament binding|phosphatidylinositol-4,5-bisphosphate binding	g.chr6:35471598C>T	U82468	CCDS4807.1, CCDS75436.1	6p21.3	2014-01-28			ENSG00000112041	ENSG00000112041			12423	protein-coding gene	gene with protein product		602280		RP14		9096357, 9521870	Standard	NM_003322		Approved	TUBL1, LCA15	uc003okv.4	O00294	OTTHUMG00000014575	ENST00000229771.6:c.1140G>A	6.37:g.35471598C>T						TULP1_ENST00000322263.4_Silent_p.T327T	p.T380T	NM_003322.3	NP_003313.3	O00294	TULP1_HUMAN			12	1219	-			380					O43536|Q5TGM5|Q8N571	Silent	SNP	ENST00000229771.6	37	c.1140G>A	CCDS4807.1																																																																																				0.612	TULP1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040307.2			5	15	0	0	0	1	0	5	15					T	35471598	C	T	35471598	2	4	286	1	0	0	0	0	0	0	0	1	16770	639	23	2		2	TULP1	6	35471598	Silent	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	2087788	35471598	135643469	228	13358											
BRPF3	27154	broad.mit.edu	37	chr6	36181863	36181863	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tagggaatgagcctttgcaaCgcttgctcagtgacaatggc	10	10	12	9	1	1	2	1	2	0	0	1	3	1	3	1	2	4	3	1	2	4	3	rs367563122		TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr6:36181863C>T	ENST00000357641.6	+	8	2942	c.2689C>T	c.(2689-2691)Cgc>Tgc	p.R897C	BRPF3_ENST00000543502.1_Intron|BRPF3_ENST00000534694.1_Intron|BRPF3_ENST00000534400.1_Missense_Mutation_p.R897C|BRPF3_ENST00000339717.7_Intron|BRPF3_ENST00000443324.2_Intron	NM_015695.2	NP_056510.2	Q9ULD4	BRPF3_HUMAN	bromodomain and PHD finger containing, 3	897					blood coagulation (GO:0007596)|histone H3 acetylation (GO:0043966)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	cytosol (GO:0005829)|extracellular region (GO:0005576)|MOZ/MORF histone acetyltransferase complex (GO:0070776)	zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2)	40						GCCTTTGCAACGCTTGCTCAG	0.537																																						ENST00000357641.6																			0				breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2)	40						c.(2689-2691)Cgc>Tgc		bromodomain and PHD finger containing, 3		C	CYS/ARG	0,4406		0,0,2203	104	98	100		2689	0.7	0.3	6		100	1,8599	1.2+/-3.3	0,1,4299	no	missense	BRPF3	NM_015695.2	180	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	897/1206	36181863	1,13005	2203	4300	6503	SO:0001583	missense	27154				histone H3 acetylation|platelet activation|platelet degranulation	cytosol|extracellular region|MOZ/MORF histone acetyltransferase complex	protein binding|zinc ion binding	g.chr6:36181863C>T	AB033112	CCDS34437.1	6p21.31	2008-02-05			ENSG00000096070	ENSG00000096070			14256	protein-coding gene	gene with protein product						10574462	Standard	NM_015695		Approved	KIAA1286	uc003olv.4	Q9ULD4	OTTHUMG00000014589	ENST00000357641.6:c.2689C>T	6.37:g.36181863C>T	ENSP00000350267:p.Arg897Cys					BRPF3_ENST00000534400.1_Missense_Mutation_p.R897C|BRPF3_ENST00000339717.7_Intron|BRPF3_ENST00000443324.2_Intron|BRPF3_ENST00000534694.1_Intron|BRPF3_ENST00000543502.1_Intron	p.R897C	NM_015695.2	NP_056510.2	Q9ULD4	BRPF3_HUMAN			8	2942	+			897					A6ND56|A6NJE2|B7ZLN5|E7EX85|Q17RB6|Q5R3K8	Missense_Mutation	SNP	ENST00000357641.6	37	c.2689C>T	CCDS34437.1	.	.	.	.	.	.	.	.	.	.	C	11.43	1.635697	0.29068	0.0	1.16E-4	ENSG00000096070	ENST00000357641;ENST00000534400;ENST00000394572	T;T	0.16743	2.49;2.32	5.65	0.725	0.18242	.	0.842352	0.11150	N	0.594192	T	0.01905	0.0060	N	0.02011	-0.69	0.09310	N	0.999993	B	0.02656	0.0	B	0.01281	0.0	T	0.46789	-0.9166	10	0.51188	T	0.08	.	8.8929	0.35446	0.0:0.6337:0.0:0.3663	.	897	Q9ULD4	BRPF3_HUMAN	C	897;897;311	ENSP00000350267:R897C;ENSP00000436504:R897C	ENSP00000350267:R897C	R	+	1	0	BRPF3	36289841	0.018000	0.18449	0.332000	0.25469	0.696000	0.40369	1.627000	0.37050	0.059000	0.16252	0.505000	0.49811	CGC		0.537	BRPF3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000040335.3	NM_015695		16	101	0	0	0	1	0	16	101					T	36181863	C	T	36181863	3	4	286	1	0	0	0	0	1	0	0	0	1521	536	19	1	2715	1	BRPF3	6	36181863	Missense_Mutation	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	710265	36181863	134933204	229	13359											
C6orf222	389384	broad.mit.edu	37	chr6	36298375	36298375	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagagccaatggcagtcccaCgactccgagcctttcccggg	8	6	12	15	3	0	1	0	0	0	1	3	4	3	1	5	2	2	1	5	2	1	1	rs200818361		TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr6:36298375C>T	ENST00000437635.2	-	2	270	c.93G>A	c.(91-93)tcG>tcA	p.S31S		NM_001010903.4	NP_001010903.3	P0C671	CF222_HUMAN	chromosome 6 open reading frame 222	31										breast(4)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|skin(4)|urinary_tract(4)	26						GGCAGTCCCACGACTCCGAGC	0.647													C|||	1	0.000199681	0	0	5008	,	,		13195	0		0	False		,,,				2504	0.001					ENST00000437635.2																			0				breast(4)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|skin(4)|urinary_tract(4)	26						c.(91-93)tcG>tcA		chromosome 6 open reading frame 222							50	56	54					6																	36298375		2202	4300	6502	SO:0001819	synonymous_variant	389384							g.chr6:36298375C>T		CCDS34439.1	6p21.31	2012-02-22			ENSG00000189325	ENSG00000189325			33769	protein-coding gene	gene with protein product							Standard	NM_001010903		Approved	DKFZp779B1540	uc003oly.3	P0C671	OTTHUMG00000014591	ENST00000437635.2:c.93G>A	6.37:g.36298375C>T							p.S31S	NM_001010903.4	NP_001010903.3	P0C671	CF222_HUMAN			2	270	-			31					B2RTY8	Silent	SNP	ENST00000437635.2	37	c.93G>A	CCDS34439.1																																																																																				0.647	C6orf222-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040338.2	NM_001010903		6	105	0	0	0	1	0	6	105					T	36298375	C	T	36298375	2	4	286	1	0	0	0	0	0	0	0	1	2356	523	19	1		1	C6orf222	6	36298375	Silent	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	116512	36298375	134816692	230	13360											
USP49	25862	broad.mit.edu	37	chr6	41774068	41774068	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcgaggcagccgggcccgcGtcgcggggcgtgtgcaggag	4	3	21	13	8	0	0	0	0	0	0	1	2	0	1	2	5	2	2	2	5	0	0			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr6:41774068G>A	ENST00000394253.3	-	3	983	c.654C>T	c.(652-654)gaC>gaT	p.D218D	USP49_ENST00000373010.1_Silent_p.D218D|USP49_ENST00000297229.2_Silent_p.D218D|USP49_ENST00000373006.1_Silent_p.D218D|USP49_ENST00000373009.3_Silent_p.D218D			Q70CQ1	UBP49_HUMAN	ubiquitin specific peptidase 49	218					histone H2B conserved C-terminal lysine deubiquitination (GO:0035616)|mRNA splicing, via spliceosome (GO:0000398)|protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|histone binding (GO:0042393)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(3)|prostate(2)|skin(2)	23	Ovarian(28;0.0919)|Colorectal(47;0.121)		STAD - Stomach adenocarcinoma(11;0.000204)|Epithelial(12;0.000309)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			ccgggcccgcgtcgcggggcg	0.771																																						ENST00000394253.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(3)|prostate(2)|skin(2)	23						c.(652-654)gaC>gaT		ubiquitin specific peptidase 49							5	6	6					6																	41774068		1471	3166	4637	SO:0001819	synonymous_variant	25862				ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity|zinc ion binding	g.chr6:41774068G>A	AJ586139	CCDS4861.1, CCDS69111.1	6p12.1	2008-02-05	2005-08-08		ENSG00000164663	ENSG00000164663		"Ubiquitin-specific peptidases"	20078	protein-coding gene	gene with protein product			"ubiquitin specific protease 49"			14715245	Standard	NM_018561		Approved	MGC20741	uc003ori.3	Q70CQ1	OTTHUMG00000014688	ENST00000394253.3:c.654C>T	6.37:g.41774068G>A						USP49_ENST00000373010.1_Silent_p.D218D|USP49_ENST00000373006.1_Silent_p.D218D|USP49_ENST00000373009.3_Silent_p.D218D|USP49_ENST00000297229.2_Silent_p.D218D	p.D218D			Q70CQ1	UBP49_HUMAN	STAD - Stomach adenocarcinoma(11;0.000204)|Epithelial(12;0.000309)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)		3	983	-	Ovarian(28;0.0919)|Colorectal(47;0.121)		218					Q5T3D9|Q5T3E0|Q96CK4	Silent	SNP	ENST00000394253.3	37	c.654C>T																																																																																					0.771	USP49-007	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000316513.3	NM_018561		3	20	0	0	0	1	0	3	20					A	41774068	G	A	41774068	2	1	286	1	0	0	0	0	0	0	0	1	17077	1136	40	1		1	USP49	6	41774068	Silent	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	5475693	41774068	129340999	231	13361											
TTBK1	84630	broad.mit.edu	37	chr6	43221327	43221327	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gccggaacctggccgacctgCgccgtagccagccgcgaggc	6	3	15	17	6	0	0	0	0	0	0	0	3	0	1	7	3	4	1	7	3	2	1			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr6:43221327C>T	ENST00000259750.4	+	5	435	c.352C>T	c.(352-354)Cgc>Tgc	p.R118C	TTBK1_ENST00000304139.5_Missense_Mutation_p.R67C	NM_032538.1	NP_115927.1	Q5TCY1	TTBK1_HUMAN	tau tubulin kinase 1	118	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(10)|liver(1)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399)			GGCCGACCTGCGCCGTAGCCA	0.627																																						ENST00000259750.4																			0				breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(10)|liver(1)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	53						c.(352-354)Cgc>Tgc		tau tubulin kinase 1							38	33	35					6																	43221327		2203	4300	6503	SO:0001583	missense	84630					cell junction|cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr6:43221327C>T	AB058758	CCDS34455.1	6p21.1	2008-02-05			ENSG00000146216	ENSG00000146216			19140	protein-coding gene	gene with protein product						11347906	Standard	XM_006715229		Approved	KIAA1855	uc003ouq.1	Q5TCY1	OTTHUMG00000014725	ENST00000259750.4:c.352C>T	6.37:g.43221327C>T	ENSP00000259750:p.Arg118Cys					TTBK1_ENST00000304139.5_Missense_Mutation_p.R67C	p.R118C	NM_032538.1	NP_115927.1	Q5TCY1	TTBK1_HUMAN	Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399)		5	435	+			118			Protein kinase.		A2A2U5|Q2L6C6|Q6ZNH0|Q8N444|Q96JH2	Missense_Mutation	SNP	ENST00000259750.4	37	c.352C>T	CCDS34455.1	.	.	.	.	.	.	.	.	.	.	C	19.86	3.905097	0.72868	.	.	ENSG00000146216	ENST00000393984;ENST00000259750;ENST00000304139	T	0.64991	-0.13	4.8	4.8	0.61643	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.259849	0.35555	N	0.003124	T	0.80783	0.4689	H	0.94264	3.515	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.85458	0.1165	10	0.66056	D	0.02	.	12.4026	0.55422	0.1691:0.8309:0.0:0.0	.	118	Q5TCY1	TTBK1_HUMAN	C	67;118;67	ENSP00000259750:R118C	ENSP00000259750:R118C	R	+	1	0	TTBK1	43329305	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	2.327000	0.43858	2.205000	0.71048	0.462000	0.41574	CGC		0.627	TTBK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040584.3			10	30	0	0	0	1	0	10	30					T	43221327	C	T	43221327	3	4	286	1	0	0	0	0	1	0	0	0	16673	768	27	1	366	1	TTBK1	6	43221327	Missense_Mutation	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	1447259	43221327	127893740	232	13362											
VEGFA	7422	broad.mit.edu	37	chr6	43748503	43748503	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gaaagggaaaggggcaaaaaCgaaagcgcaagaaatcccgg	19	1	14	7	3	0	1	0	0	0	1	1	4	1	2	1	4	2	2	1	4	7	0			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr6:43748503C>T	ENST00000523873.1	+	6	495	c.457C>T	c.(457-459)Cga>Tga	p.R153*	VEGFA_ENST00000417285.2_Intron|VEGFA_ENST00000518824.1_Intron|VEGFA_ENST00000413642.3_Nonsense_Mutation_p.R333*|VEGFA_ENST00000372064.4_Intron|VEGFA_ENST00000372055.4_Nonsense_Mutation_p.R333*|VEGFA_ENST00000372067.3_Intron|VEGFA_ENST00000523950.1_Intron|VEGFA_ENST00000372077.4_Intron|VEGFA_ENST00000518689.1_Nonsense_Mutation_p.R153*|VEGFA_ENST00000324450.6_Intron|VEGFA_ENST00000523125.1_Intron|VEGFA_ENST00000230480.6_Intron|VEGFA_ENST00000520948.1_Nonsense_Mutation_p.R153*|VEGFA_ENST00000482630.2_Intron|VEGFA_ENST00000457104.2_Intron|VEGFA_ENST00000425836.2_Nonsense_Mutation_p.R333*			P15692	VEGFA_HUMAN	vascular endothelial growth factor A	153					activation of protein kinase activity (GO:0032147)|angiogenesis (GO:0001525)|artery morphogenesis (GO:0048844)|basophil chemotaxis (GO:0002575)|blood coagulation (GO:0007596)|branching morphogenesis of an epithelial tube (GO:0048754)|camera-type eye morphogenesis (GO:0048593)|cardiac muscle fiber development (GO:0048739)|cardiac vascular smooth muscle cell development (GO:0060948)|cell maturation (GO:0048469)|cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to hypoxia (GO:0071456)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|commissural neuron axon guidance (GO:0071679)|coronary artery morphogenesis (GO:0060982)|coronary vein morphogenesis (GO:0003169)|dopaminergic neuron differentiation (GO:0071542)|endothelial cell chemotaxis (GO:0035767)|epithelial cell differentiation (GO:0030855)|eye photoreceptor cell development (GO:0042462)|growth (GO:0040007)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|induction of positive chemotaxis (GO:0050930)|kidney development (GO:0001822)|lactation (GO:0007595)|lung development (GO:0030324)|lymph vessel morphogenesis (GO:0036303)|macrophage differentiation (GO:0030225)|mammary gland alveolus development (GO:0060749)|mesoderm development (GO:0007498)|monocyte differentiation (GO:0030224)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|outflow tract morphogenesis (GO:0003151)|ovarian follicle development (GO:0001541)|patterning of blood vessels (GO:0001569)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive chemotaxis (GO:0050918)|positive regulation of angiogenesis (GO:0045766)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell division (GO:0051781)|positive regulation of cell migration (GO:0030335)|positive regulation of cell migration involved in sprouting angiogenesis (GO:0090050)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell proliferation by VEGF-activated platelet derived growth factor receptor signaling pathway (GO:0038091)|positive regulation of cellular component movement (GO:0051272)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of endothelial cell chemotaxis by VEGF-activated vascular endothelial growth factor receptor signaling pathway (GO:0038033)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of gene expression (GO:0010628)|positive regulation of histone deacetylase activity (GO:1901727)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of mast cell chemotaxis (GO:0060754)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of p38MAPK cascade (GO:1900745)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-tyrosine autophosphorylation (GO:1900086)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of protein autophosphorylation (GO:0031954)|positive regulation of protein complex assembly (GO:0031334)|positive regulation of protein kinase C signaling (GO:0090037)|positive regulation of protein localization to early endosome (GO:1902966)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of receptor internalization (GO:0002092)|positive regulation of retinal ganglion cell axon guidance (GO:1902336)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061419)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|positive regulation of vascular permeability (GO:0043117)|post-embryonic camera-type eye development (GO:0031077)|primitive erythrocyte differentiation (GO:0060319)|regulation of cell shape (GO:0008360)|regulation of retinal ganglion cell axon guidance (GO:0090259)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|response to hypoxia (GO:0001666)|surfactant homeostasis (GO:0043129)|tube formation (GO:0035148)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor signaling pathway (GO:0038084)|vasculogenesis (GO:0001570)|VEGF-activated neuropilin signaling pathway (GO:0038190)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|platelet alpha granule lumen (GO:0031093)|proteinaceous extracellular matrix (GO:0005578)|secretory granule (GO:0030141)	chemoattractant activity (GO:0042056)|cytokine activity (GO:0005125)|extracellular matrix binding (GO:0050840)|fibronectin binding (GO:0001968)|growth factor activity (GO:0008083)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|neuropilin binding (GO:0038191)|platelet-derived growth factor receptor binding (GO:0005161)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|receptor agonist activity (GO:0048018)|vascular endothelial growth factor receptor 1 binding (GO:0043183)|vascular endothelial growth factor receptor 2 binding (GO:0043184)|vascular endothelial growth factor receptor binding (GO:0005172)			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)	9	all_cancers(18;5.46e-07)|all_epithelial(2;5.96e-08)|Lung NSC(15;0.000157)|all_lung(25;0.000486)|Hepatocellular(11;0.00309)		all cancers(41;0.000413)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.0742)|OV - Ovarian serous cystadenocarcinoma(102;0.196)		Aflibercept(DB08885)|Bevacizumab(DB00112)|Carvedilol(DB01136)|Dalteparin(DB06779)|Gliclazide(DB01120)|Minocycline(DB01017)|Ranibizumab(DB01270)|Vandetanib(DB05294)	GGGGCAAAAACGAAAGCGCAA	0.532																																						ENST00000425836.2																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)	9						c.(997-999)Cga>Tga		vascular endothelial growth factor A	Atorvastatin(DB01076)|Bevacizumab(DB00112)|Carvedilol(DB01136)|Ginkgo biloba(DB01381)|Gliclazide(DB01120)|Minocycline(DB01017)|Ranibizumab(DB01270)|Simvastatin(DB00641)						137	131	133					6																	43748503		2203	4300	6503	SO:0001587	stop_gained	7422				basophil chemotaxis|cellular response to hypoxia|induction of positive chemotaxis|platelet activation|platelet degranulation|platelet-derived growth factor receptor signaling pathway|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of cell adhesion|positive regulation of cell division|positive regulation of endothelial cell proliferation|positive regulation of leukocyte migration|positive regulation of mast cell chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|positive regulation of vascular permeability|regulation of cell shape|vascular endothelial growth factor receptor signaling pathway|vasculogenesis	cell surface|extracellular space|membrane|platelet alpha granule lumen	cell surface binding|chemoattractant activity|cytokine activity|fibronectin binding|growth factor activity|heparin binding|platelet-derived growth factor receptor binding|protein heterodimerization activity|protein homodimerization activity|vascular endothelial growth factor receptor 1 binding|vascular endothelial growth factor receptor 2 binding|vascular endothelial growth factor receptor binding	g.chr6:43748503C>T	AB021221	CCDS34457.1, CCDS4907.2, CCDS34458.1, CCDS47432.1, CCDS47433.1, CCDS47434.1, CCDS47435.1, CCDS55007.1, CCDS55008.1, CCDS55009.1, CCDS55010.1, CCDS55011.1, CCDS55012.1, CCDS55013.1, CCDS55014.1, CCDS55015.1, CCDS69125.1	6p12	2008-02-05	2006-10-31	2006-10-31	ENSG00000112715	ENSG00000112715			12680	protein-coding gene	gene with protein product		192240	"vascular endothelial growth factor"	VEGF		8786112	Standard	NM_001025366		Approved	VEGF-A, VPF	uc003owh.3	P15692	OTTHUMG00000014745	ENST00000523873.1:c.457C>T	6.37:g.43748503C>T	ENSP00000430479:p.Arg153*					VEGFA_ENST00000482630.2_Intron|VEGFA_ENST00000372055.4_Nonsense_Mutation_p.R333*|VEGFA_ENST00000523950.1_Intron|VEGFA_ENST00000230480.6_Intron|VEGFA_ENST00000413642.3_Nonsense_Mutation_p.R333*|VEGFA_ENST00000523873.1_Nonsense_Mutation_p.R153*|VEGFA_ENST00000324450.6_Intron|VEGFA_ENST00000372067.3_Intron|VEGFA_ENST00000520948.1_Nonsense_Mutation_p.R153*|VEGFA_ENST00000518824.1_Intron|VEGFA_ENST00000523125.1_Intron|VEGFA_ENST00000417285.2_Intron|VEGFA_ENST00000372064.4_Intron|VEGFA_ENST00000457104.2_Intron|VEGFA_ENST00000372077.4_Intron|VEGFA_ENST00000518689.1_Nonsense_Mutation_p.R153*	p.R333*			P15692	VEGFA_HUMAN	all cancers(41;0.000413)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.0742)|OV - Ovarian serous cystadenocarcinoma(102;0.196)		6	997	+	all_cancers(18;5.46e-07)|all_epithelial(2;5.96e-08)|Lung NSC(15;0.000157)|all_lung(25;0.000486)|Hepatocellular(11;0.00309)		153					B5BU86|H0Y2S8|H0Y407|H0Y414|H0Y462|H0Y8N2|H3BLW7|O60720|O75875|Q074Z4|Q16889|Q5UB46|Q6P0P5|Q96KJ0|Q96L82|Q96NW5|Q9H1W8|Q9H1W9|Q9UH58|Q9UL23	Nonsense_Mutation	SNP	ENST00000523873.1	37	c.997C>T	CCDS55010.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	37|37	6.073907|6.073907	0.97256|0.97256	.|.	.|.	ENSG00000112715|ENSG00000112715	ENST00000413642;ENST00000372055;ENST00000425836;ENST00000520948;ENST00000523873;ENST00000518689|ENST00000519767	.|.	.|.	.|.	4.85|4.85	2.74|2.74	0.32292|0.32292	.|.	0.695181|.	0.13124|.	N|.	0.411967|.	.|T	.|0.49712	.|0.1573	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.49579	.|-0.8925	.|4	0.02654|.	T|.	1|.	-6.6028|-6.6028	11.8268|11.8268	0.52271|0.52271	0.5285:0.4715:0.0:0.0|0.5285:0.4715:0.0:0.0	.|.	.|.	.|.	.|.	X|M	333;333;333;153;153;153|304	.|.	ENSP00000361125:R333X|.	R|T	+|+	1|2	2|0	VEGFA|VEGFA	43856481|43856481	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	2.449000|2.449000	0.44935|0.44935	1.016000|1.016000	0.39470|0.39470	0.561000|0.561000	0.74099|0.74099	CGA|ACG		0.532	VEGFA-021	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000374460.1	NM_001025366		11	72	0	0	0	1	0	11	72					T	43748503	C	T	43748503	4	4	286	1	0	0	0	0	0	1	0	0	17147	528	19	1	1019	1	VEGFA	6	43748503	Nonsense_Mutation	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	527176	43748503	127366564	233	13363											
GPR115	221393	broad.mit.edu	37	chr6	47682266	47682266	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgaagccacagtgtggtccCgggtggttgtgacggagata	8	10	16	7	2	0	3	0	2	0	1	1	4	1	3	2	4	1	1	2	4	2	3	rs145102054		TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr6:47682266C>T	ENST00000283303.2	+	6	1543	c.1285C>T	c.(1285-1287)Cgg>Tgg	p.R429W	GPR115_ENST00000371220.1_Missense_Mutation_p.R486W|RN7SKP116_ENST00000516902.1_RNA|GPR115_ENST00000327753.3_Missense_Mutation_p.R429W	NM_153838.3	NP_722580.3	Q8IZF3	GP115_HUMAN	G protein-coupled receptor 115	429					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	52						AGTGTGGTCCCGGGTGGTTGT	0.493																																					GBM(22;431 510 9010 26644 32828)	ENST00000283303.2																			0				NS(1)|breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	52						c.(1285-1287)Cgg>Tgg		G protein-coupled receptor 115		C	TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	182	160	167		1285	5.4	1	6	dbSNP_134	167	0,8600		0,0,4300	no	missense	GPR115	NM_153838.3	101	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	429/696	47682266	1,13005	2203	4300	6503	SO:0001583	missense	221393				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr6:47682266C>T	AK095395	CCDS4922.2	6p12.3	2014-08-08			ENSG00000153294	ENSG00000153294		"-", "GPCR / Class B : Orphans"	19011	protein-coding gene	gene with protein product		614268				12435584	Standard	NM_153838		Approved	FLJ38076, PGR18	uc003oza.1	Q8IZF3	OTTHUMG00000014800	ENST00000283303.2:c.1285C>T	6.37:g.47682266C>T	ENSP00000283303:p.Arg429Trp					GPR115_ENST00000371220.1_Missense_Mutation_p.R486W|GPR115_ENST00000327753.3_Missense_Mutation_p.R429W	p.R429W	NM_153838.3	NP_722580.3	Q8IZF3	GP115_HUMAN			6	1543	+			429					B3KTD0|Q2PNZ0|Q5T5B5|Q5T5B6|Q86SN9|Q8IXE6	Missense_Mutation	SNP	ENST00000283303.2	37	c.1285C>T	CCDS4922.2	.	.	.	.	.	.	.	.	.	.	C	13.95	2.391181	0.42410	2.27E-4	0.0	ENSG00000153294	ENST00000371220;ENST00000327753;ENST00000283303	T;T;T	0.43294	0.95;0.95;0.95	5.45	5.45	0.79879	GPCR, family 2-like (1);	0.361592	0.27366	N	0.019692	T	0.47985	0.1475	L	0.39898	1.24	0.31078	N	0.712283	D	0.76494	0.999	D	0.70935	0.971	T	0.45991	-0.9223	10	0.66056	D	0.02	-9.0396	18.6292	0.91354	0.0:1.0:0.0:0.0	.	429	Q8IZF3	GP115_HUMAN	W	486;429;429	ENSP00000360264:R486W;ENSP00000328319:R429W;ENSP00000283303:R429W	ENSP00000283303:R429W	R	+	1	2	GPR115	47790225	0.000000	0.05858	1.000000	0.80357	0.302000	0.27658	0.692000	0.25482	2.721000	0.93114	0.655000	0.94253	CGG		0.493	GPR115-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040819.2	NM_153838		16	69	0	0	0	1	0	16	69					T	47682266	C	T	47682266	3	4	286	1	0	0	0	0	1	0	0	0	6632	643	23	2	1303	2	GPR115	6	47682266	Missense_Mutation	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	3933763	47682266	123432801	234	13364											
HCRTR2	3062	broad.mit.edu	37	chr6	55039411	55039411	+	Frame_Shift_Del	DEL	C	C	-																															cggcaccaaattggaggactCccccccttgtcgcaactggt																								rs76774128		TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr6:55039411delC	ENST00000370862.3	+	1	362	c.26delC	c.(25-27)tccfs	p.S9fs		NM_001526.3	NP_001517.2	O43614	OX2R_HUMAN	hypocretin (orexin) receptor 2	9					circadian sleep/wake cycle process (GO:0022410)|feeding behavior (GO:0007631)|neuropeptide signaling pathway (GO:0007218)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neuropeptide receptor activity (GO:0008188)|orexin receptor activity (GO:0016499)	p.P11fs*11(1)		breast(3)|endometrium(2)|kidney(1)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	46	Lung NSC(77;0.107)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			TTGGAGGACTCCCCCCCTTGT	0.567																																						ENST00000370862.3																			1	Deletion - Frameshift(1)	p.P11fs*11(1)	upper_aerodigestive_tract(1)	breast(3)|endometrium(2)|kidney(1)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	46						c.(25-27)tcfs		hypocretin (orexin) receptor 2							101	96	98					6																	55039411		2203	4300	6503	SO:0001589	frameshift_variant	3062				feeding behavior	integral to plasma membrane	neuropeptide receptor activity	g.chr6:55039411delC	AF041245	CCDS4956.1	6p12.1	2012-09-20			ENSG00000137252	ENSG00000137252		"GPCR / Class A : Hypocretin (orexin) receptors"	4849	protein-coding gene	gene with protein product		602393				9491897	Standard	NM_001526		Approved	OX2R	uc003pcl.3	O43614	OTTHUMG00000016150	ENST00000370862.3:c.26delC	6.37:g.55039411delC	ENSP00000359899:p.Ser9fs						p.S9fs	NM_001526.3	NP_001517.2	O43614	OX2R_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.23)		1	362	+	Lung NSC(77;0.107)|Renal(3;0.122)		9					Q5VTM0	Frame_Shift_Del	DEL	ENST00000370862.3	37	c.26delC	CCDS4956.1																																																																																				0.567	HCRTR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043392.1			30	139						30	139	---	---	---	---	-	55039411	C	-	55039411	7	5	286	1	0	1	0	1	0	0	0	0	7002	855	30	0	28	0	HCRTR2	6	55039411	Frame_Shift_Del	DEL	C	TCGA-J9-A52C-01A-11D-A26M-08	7357145	55039411	116075656	235	13365											
BMP5	653	broad.mit.edu	37	chr6	55684477	55684477	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgtgtattccttgatgattTgatatatgctaatcttaatt	10	21	6	4	0	1	3	0	3	1	0	2	3	2	3	1	0	1	2	1	0	5	10			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr6:55684477T>C	ENST00000370830.3	-	2	1357	c.659A>G	c.(658-660)cAa>cGa	p.Q220R	BMP5_ENST00000446683.2_Missense_Mutation_p.Q220R	NM_021073.2	NP_066551.1	P22003	BMP5_HUMAN	bone morphogenetic protein 5	220					cartilage development (GO:0051216)|growth (GO:0040007)|male genitalia development (GO:0030539)|negative regulation of aldosterone biosynthetic process (GO:0032348)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cortisol biosynthetic process (GO:2000065)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of insulin-like growth factor receptor signaling pathway (GO:0043569)|negative regulation of mononuclear cell migration (GO:0071676)|negative regulation of steroid biosynthetic process (GO:0010894)|ossification (GO:0001503)|pattern specification process (GO:0007389)|positive regulation of dendrite development (GO:1900006)|positive regulation of DNA-dependent DNA replication (GO:2000105)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal system development (GO:0001501)|type B pancreatic cell development (GO:0003323)	extracellular space (GO:0005615)|membrane-bounded vesicle (GO:0031988)	BMP receptor binding (GO:0070700)			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	45	Lung NSC(77;0.0462)		LUSC - Lung squamous cell carcinoma(124;0.181)			CTTGATGATTTGATATATGCT	0.323																																						ENST00000370830.3																			0				cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	45						c.(658-660)cAa>cGa		bone morphogenetic protein 5							85	77	80					6																	55684477		2202	4300	6502	SO:0001583	missense	653				cartilage development|cell differentiation|growth|ossification	extracellular space	BMP receptor binding|cytokine activity|growth factor activity	g.chr6:55684477T>C		CCDS4958.1	6p12.1	2014-01-30			ENSG00000112175	ENSG00000112175		"Bone morphogenetic proteins", "Endogenous ligands"	1072	protein-coding gene	gene with protein product		112265				1427904, 11580864	Standard	NM_021073		Approved		uc003pcq.3	P22003	OTTHUMG00000014903	ENST00000370830.3:c.659A>G	6.37:g.55684477T>C	ENSP00000359866:p.Gln220Arg					BMP5_ENST00000446683.2_Missense_Mutation_p.Q220R	p.Q220R	NM_021073.2	NP_066551.1	P22003	BMP5_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.181)		2	1357	-	Lung NSC(77;0.0462)		220					B4E0Y4|Q9H547|Q9NTM5	Missense_Mutation	SNP	ENST00000370830.3	37	c.659A>G	CCDS4958.1	.	.	.	.	.	.	.	.	.	.	T	21.0	4.083818	0.76642	.	.	ENSG00000112175	ENST00000370830;ENST00000446683	T;T	0.64618	-0.11;-0.11	5.74	5.74	0.90152	Transforming growth factor-beta, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.74045	0.3665	M	0.71036	2.16	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.996	T	0.78163	-0.2311	10	0.87932	D	0	.	16.0546	0.80788	0.0:0.0:0.0:1.0	.	220;220	B4E0Y4;P22003	.;BMP5_HUMAN	R	220	ENSP00000359866:Q220R;ENSP00000391818:Q220R	ENSP00000359866:Q220R	Q	-	2	0	BMP5	55792436	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.698000	0.84413	2.191000	0.70037	0.528000	0.53228	CAA		0.323	BMP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041000.1			6	16	0	0	0	1	0	6	16					C	55684477	T	C	55684477	3	2	286	1	0	0	0	0	1	0	0	0	1463	1812	63	4	729	4	BMP5	6	55684477	Missense_Mutation	SNP	T	TCGA-J9-A52C-01A-11D-A26M-08	645066	55684477	115430590	236	13366											
DST	667	broad.mit.edu	37	chr6	56485250	56485250	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcaagttccctgcggtactgCttggcttcactttcagccct	5	14	8	14	1	3	0	3	0	0	0	4	0	4	0	2	2	4	4	2	2	2	5			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr6:56485250C>T	ENST00000370765.6	-	23	3689	c.3582G>A	c.(3580-3582)aaG>aaA	p.K1194K	DST_ENST00000312431.6_Intron|DST_ENST00000421834.2_Intron|DST_ENST00000244364.6_Intron|DST_ENST00000370769.4_Intron|DST_ENST00000370754.5_Intron|DST_ENST00000361203.3_Intron|DST_ENST00000446842.2_Intron|DST_ENST00000370788.2_Intron	NM_001723.5	NP_001714.1	Q03001	DYST_HUMAN	dystonin	0					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TGCGGTACTGCTTGGCTTCAC	0.493																																						ENST00000370765.6																			0				NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105						c.(3580-3582)aaG>aaA		dystonin							95	92	93					6																	56485250		2203	4300	6503	SO:0001819	synonymous_variant	667				cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity	g.chr6:56485250C>T	M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"EF-hand domain containing"	1090	protein-coding gene	gene with protein product		113810	"bullous pemphigoid antigen 1, 230/240kDa"	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000370765.6:c.3582G>A	6.37:g.56485250C>T						DST_ENST00000421834.2_Intron|DST_ENST00000446842.2_Intron|DST_ENST00000370754.5_Intron|DST_ENST00000244364.6_Intron|DST_ENST00000361203.3_Intron|DST_ENST00000312431.6_Intron|DST_ENST00000370788.2_Intron|DST_ENST00000370769.4_Intron	p.K1194K	NM_001723.5	NP_001714.1	Q03001	DYST_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)		23	3689	-	Lung NSC(77;0.103)		1535					B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Silent	SNP	ENST00000370765.6	37	c.3582G>A	CCDS4959.1																																																																																				0.493	DST-010	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000041027.2	NM_001723		9	44	0	0	0	1	0	9	44					T	56485250	C	T	56485250	2	4	286	1	0	0	0	0	0	0	0	1	4783	796	28	3		3	DST	6	56485250	Silent	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	800773	56485250	114629817	237	13367											
KIAA0776	23376	broad.mit.edu	37	chr6	96999786	96999786	+	Frame_Shift_Del	DEL	A	A	-																															ttatggtgaaaaggggagacAaaaaaagggaaaggtaacat																										TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr6:96999786delA	ENST00000369278.4	+	17	2038	c.1972delA	c.(1972-1974)aaafs	p.K659fs		NM_015323.4	NP_056138.1	O94874	UFL1_HUMAN	UFM1-specific ligase 1	659					negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein ubiquitination (GO:0031397)|osteoblast differentiation (GO:0001649)|protein ufmylation (GO:0071569)|regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032434)|response to endoplasmic reticulum stress (GO:0034976)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleus (GO:0005634)	UFM1 conjugating enzyme activity (GO:0071568)										AAGGGGAGACAAAAAAAGGGA	0.338																																						ENST00000369278.4																			0											c.(1972-1974)aafs		UFM1-specific ligase 1							82	92	89					6																	96999786		2203	4298	6501	SO:0001589	frameshift_variant	23376				negative regulation of NF-kappaB transcription factor activity|negative regulation of protein ubiquitination|protein ufmylation	endoplasmic reticulum|nucleus	protein binding|UFM1 conjugating enzyme activity	g.chr6:96999786delA	BC036379	CCDS5034.1	6q16.3	2011-08-18	2011-08-18	2011-08-18	ENSG00000014123	ENSG00000014123			23039	protein-coding gene	gene with protein product	"novel LZAP-binding protein", "Regulator of CDK5RAP3 and DDRGK1"	613372	"KIAA0776"	KIAA0776		20018847, 20164180, 20228063, 20531390	Standard	NM_015323		Approved	NLBP, Maxer, RCAD	uc003por.3	O94874	OTTHUMG00000015238	ENST00000369278.4:c.1972delA	6.37:g.96999786delA	ENSP00000358283:p.Lys659fs						p.K659fs	NM_015323.4	NP_056138.1	O94874	UFL1_HUMAN			17	2038	+			659					A0PJ53|B4DJ57|C0H5X5|Q8N765|Q9NTQ0	Frame_Shift_Del	DEL	ENST00000369278.4	37	c.1972delA	CCDS5034.1																																																																																				0.338	UFL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041557.1	NM_015323		10	65						10	65	---	---	---	---	-	96999786	A	-	96999786	7	5	286	1	0	1	0	1	0	0	0	0	8193	131	5	0	2038	0	KIAA0776	6	96999786	Frame_Shift_Del	DEL	A	TCGA-J9-A52C-01A-11D-A26M-08	40514536	96999786	74115281	238	13368											
MCHR2	84539	broad.mit.edu	37	chr6	100390836	100390836	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acaacttaccagagtacatcGtcaggggatgtcaaatcaaa	16	8	8	9	1	3	1	3	0	0	1	4	2	3	2	1	2	3	1	1	2	5	2	rs201955415		TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr6:100390836G>A	ENST00000281806.2	-	4	890	c.576C>T	c.(574-576)gaC>gaT	p.D192D	MCHR2_ENST00000369212.2_Silent_p.D192D	NM_001040179.1	NP_001035269.1	Q969V1	MCHR2_HUMAN	melanin-concentrating hormone receptor 2	192						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	39		all_cancers(76;4.87e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0309)|Colorectal(196;0.069)		BRCA - Breast invasive adenocarcinoma(108;0.0429)		AGAGTACATCGTCAGGGGATG	0.413													G|||	1	0.000199681	8e-04	0	5008	,	,		17061	0		0	False		,,,				2504	0					ENST00000281806.2																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	39						c.(574-576)gaC>gaT		melanin-concentrating hormone receptor 2							126	115	119					6																	100390836		2203	4300	6503	SO:0001819	synonymous_variant	84539					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr6:100390836G>A	AF347063	CCDS5044.1	6q16	2012-08-08	2006-02-15	2006-02-15	ENSG00000152034	ENSG00000152034		"GPCR / Class A : MCH receptors"	20867	protein-coding gene	gene with protein product		606111	"G protein-coupled receptor 145"	GPR145		11355873, 11274220	Standard	NM_032503		Approved	SLT, MCH2, MCH2R	uc003pqi.1	Q969V1	OTTHUMG00000015270	ENST00000281806.2:c.576C>T	6.37:g.100390836G>A						MCHR2_ENST00000445970.1_Silent_p.D192D|MCHR2_ENST00000369212.1_Silent_p.D192D	p.D192D	NM_001040179.1	NP_001035269.1	Q969V1	MCHR2_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0429)	4	890	-		all_cancers(76;4.87e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0309)|Colorectal(196;0.069)	192					B3KVW4|E1P5D7|Q5VTV7|Q6Q377|Q9BXA8	Silent	SNP	ENST00000281806.2	37	c.576C>T	CCDS5044.1																																																																																				0.413	MCHR2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041620.2	NM_032503		6	58	0	0	0	1	0	6	58					A	100390836	G	A	100390836	2	1	286	1	0	0	0	0	0	0	0	1	9383	1136	40	1		1	MCHR2	6	100390836	Silent	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	3391050	100390836	70724231	239	13369											
KPNA5	3841	broad.mit.edu	37	chr6	117047719	117047719	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcttcagaaagcagagtttcGtaccagaaaagaagcagctt	15	9	9	8	1	2	4	1	0	1	4	3	4	2	4	1	0	4	5	1	0	5	4			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr6:117047719G>A	ENST00000368564.1	+	12	1335	c.1187G>A	c.(1186-1188)cGt>cAt	p.R396H	KPNA5_ENST00000356348.1_Missense_Mutation_p.R396H			O15131	IMA6_HUMAN	karyopherin alpha 5 (importin alpha 6)	393	NLS binding site (minor). {ECO:0000250}.				cytokine-mediated signaling pathway (GO:0019221)|NLS-bearing protein import into nucleus (GO:0006607)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)	protein transporter activity (GO:0008565)			breast(6)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0298)|all cancers(137;0.0461)|OV - Ovarian serous cystadenocarcinoma(136;0.0513)|Epithelial(106;0.212)		GCAGAGTTTCGTACCAGAAAA	0.343																																						ENST00000368564.1																			0				breast(6)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						c.(1186-1188)cGt>cAt		karyopherin alpha 5 (importin alpha 6)							87	91	89					6																	117047719		2203	4300	6503	SO:0001583	missense	3841				NLS-bearing substrate import into nucleus	cytoplasm|nuclear pore	protein binding|protein transporter activity	g.chr6:117047719G>A	AF005361	CCDS5111.1	6q22.2	2013-02-14			ENSG00000196911	ENSG00000196911		"Importins", "Armadillo repeat containing"	6398	protein-coding gene	gene with protein product		604545				9395085	Standard	NM_002269		Approved	SRP6, IPOA6	uc003pxh.3	O15131	OTTHUMG00000015448	ENST00000368564.1:c.1187G>A	6.37:g.117047719G>A	ENSP00000357552:p.Arg396His					KPNA5_ENST00000356348.1_Missense_Mutation_p.R396H	p.R396H			O15131	IMA5_HUMAN		GBM - Glioblastoma multiforme(226;0.0298)|all cancers(137;0.0461)|OV - Ovarian serous cystadenocarcinoma(136;0.0513)|Epithelial(106;0.212)	12	1335	+		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)	393			NLS binding site (minor) (By similarity).		B2RAI5|Q86X23	Missense_Mutation	SNP	ENST00000368564.1	37	c.1187G>A	CCDS5111.1	.	.	.	.	.	.	.	.	.	.	G	27.5	4.839022	0.91117	.	.	ENSG00000196911	ENST00000368564;ENST00000356348	T;T	0.69806	-0.43;-0.43	5.53	4.66	0.58398	Armadillo-like helical (1);Armadillo-type fold (1);	0.069229	0.64402	D	0.000019	T	0.60650	0.2285	L	0.39514	1.22	0.44055	D	0.996792	D	0.55800	0.973	P	0.54759	0.76	T	0.66846	-0.5820	10	0.66056	D	0.02	.	14.136	0.65289	0.0724:0.0:0.9276:0.0	.	393	O15131	IMA5_HUMAN	H	396	ENSP00000357552:R396H;ENSP00000348704:R396H	ENSP00000348704:R396H	R	+	2	0	KPNA5	117154412	1.000000	0.71417	0.998000	0.56505	0.915000	0.54546	9.462000	0.97649	1.342000	0.45619	0.485000	0.47835	CGT		0.343	KPNA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041967.1	NM_002269		4	31	0	0	0	1	0	4	31					A	117047719	G	A	117047719	3	1	286	1	0	0	0	0	1	0	0	0	8433	1145	40	1	1233	1	KPNA5	6	117047719	Missense_Mutation	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	16656883	117047719	54067348	240	13370											
BCLAF1	9774	broad.mit.edu	37	chr6	136589310	136589310	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tttcacttacaaaggttcctCgtggtcggctaactcctgca	8	13	8	12	2	1	0	1	0	0	0	5	0	3	0	2	3	3	3	2	3	3	4	rs548504420		TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr6:136589310C>T	ENST00000531224.1	-	10	2639	c.2387G>A	c.(2386-2388)cGa>cAa	p.R796Q	BCLAF1_ENST00000392348.2_Missense_Mutation_p.R794Q|BCLAF1_ENST00000031135.9_Missense_Mutation_p.R14Q|BCLAF1_ENST00000353331.4_Missense_Mutation_p.R794Q|BCLAF1_ENST00000527536.1_Missense_Mutation_p.R796Q|BCLAF1_ENST00000529917.1_5'UTR|BCLAF1_ENST00000530767.1_Missense_Mutation_p.R623Q|BCLAF1_ENST00000527759.1_Missense_Mutation_p.R794Q	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1	796					apoptotic process (GO:0006915)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA-templated transcription, initiation (GO:2000144)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of response to DNA damage stimulus (GO:2001022)|regulation of DNA-templated transcription in response to stress (GO:0043620)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		AAAGGTTCCTCGTGGTCGGCT	0.358																																					Colon(142;1534 1789 5427 7063 28491)	ENST00000531224.1																			0				haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9						c.(2386-2388)cGa>cAa		BCL2-associated transcription factor 1							169	160	163					6																	136589310		2203	4300	6503	SO:0001583	missense	9774				induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding	g.chr6:136589310C>T	AF249273	CCDS5177.1, CCDS47485.1, CCDS47486.1, CCDS75525.1	6q22-q23	2007-03-02			ENSG00000029363	ENSG00000029363			16863	protein-coding gene	gene with protein product		612588				8724849, 10330179	Standard	NM_001077440		Approved	KIAA0164, BTF	uc003qgx.1	Q9NYF8	OTTHUMG00000033323	ENST00000531224.1:c.2387G>A	6.37:g.136589310C>T	ENSP00000435210:p.Arg796Gln					BCLAF1_ENST00000392348.2_Missense_Mutation_p.R794Q|BCLAF1_ENST00000529917.1_5'UTR|BCLAF1_ENST00000527759.1_Missense_Mutation_p.R794Q|BCLAF1_ENST00000527536.1_Missense_Mutation_p.R796Q|BCLAF1_ENST00000031135.9_Missense_Mutation_p.R14Q|BCLAF1_ENST00000530767.1_Missense_Mutation_p.R623Q|BCLAF1_ENST00000353331.4_Missense_Mutation_p.R794Q	p.R796Q	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN		GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)	10	2639	-	Colorectal(23;0.24)		796					A2RU75|B7ZM58|E1P586|Q14673|Q86WU6|Q86WY0	Missense_Mutation	SNP	ENST00000531224.1	37	c.2387G>A	CCDS5177.1	.	.	.	.	.	.	.	.	.	.	C	28.1	4.886523	0.91814	.	.	ENSG00000029363	ENST00000531224;ENST00000353331;ENST00000527536;ENST00000530767;ENST00000527759;ENST00000031135;ENST00000392348	T;T;T;T;T;T;T	0.53206	2.33;2.69;2.7;2.07;2.33;0.63;2.69	5.5	5.5	0.81552	.	0.000000	0.50627	D	0.000110	T	0.59622	0.2207	L	0.49126	1.545	0.50632	D	0.999889	D;D;D;D;D	0.89917	0.998;1.0;0.998;0.998;0.997	D;D;D;D;D	0.83275	0.979;0.996;0.979;0.979;0.947	T	0.61753	-0.6998	10	0.72032	D	0.01	-3.812	19.3908	0.94581	0.0:1.0:0.0:0.0	.	794;124;794;796;623	Q9NYF8-2;B7Z8J9;Q9NYF8-3;Q9NYF8;Q9NYF8-4	.;.;.;BCLF1_HUMAN;.	Q	796;794;796;623;794;14;794	ENSP00000435210:R796Q;ENSP00000229446:R794Q;ENSP00000435441:R796Q;ENSP00000436501:R623Q;ENSP00000434826:R794Q;ENSP00000031135:R14Q;ENSP00000376159:R794Q	ENSP00000031135:R14Q	R	-	2	0	BCLAF1	136631003	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.585000	0.60977	2.602000	0.87976	0.484000	0.47621	CGA		0.358	BCLAF1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042375.2	NM_014739		6	76	0	0	0	1	0	6	76					T	136589310	C	T	136589310	3	4	286	1	0	0	0	0	1	0	0	0	1383	884	31	2	391	2	BCLAF1	6	136589310	Missense_Mutation	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	19541591	136589310	34525757	241	13371											
PEX7	5191	broad.mit.edu	37	chr6	137191048	137191048	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aatttgctggtgaccggggcGgttgactgtagtttgagagg	7	12	17	5	2	0	3	0	3	0	1	0	4	0	3	1	5	1	4	1	5	2	4			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr6:137191048G>A	ENST00000318471.4	+	7	735	c.654G>A	c.(652-654)gcG>gcA	p.A218A	PEX7_ENST00000541292.1_Silent_p.A218A	NM_000288.3	NP_000279.1	O00628	PEX7_HUMAN	peroxisomal biogenesis factor 7	218			A -> V (in RCDP1). {ECO:0000269|PubMed:9090381}.		endochondral ossification (GO:0001958)|ether lipid biosynthetic process (GO:0008611)|fatty acid beta-oxidation (GO:0006635)|neuron migration (GO:0001764)|peroxisome organization (GO:0007031)|protein import into peroxisome matrix (GO:0016558)	cytosol (GO:0005829)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	enzyme binding (GO:0019899)|peroxisome matrix targeting signal-2 binding (GO:0005053)|protein homodimerization activity (GO:0042803)	p.A218A(1)		lung(7)|prostate(1)	8	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000257)|OV - Ovarian serous cystadenocarcinoma(155;0.00492)		TGACCGGGGCGGTTGACTGTA	0.403																																						ENST00000541292.1																			1	Substitution - coding silent(1)	p.A218A(1)	lung(1)	lung(7)|prostate(1)	8						c.(652-654)gcG>gcA		peroxisomal biogenesis factor 7							234	238	237					6																	137191048		2203	4300	6503	SO:0001819	synonymous_variant	5191				ether lipid biosynthetic process|protein import into peroxisome matrix	peroxisome	peroxisome matrix targeting signal-2 binding	g.chr6:137191048G>A	AF180814	CCDS5180.1	6q21-q22.2	2013-01-10			ENSG00000112357	ENSG00000112357		"WD repeat domain containing"	8860	protein-coding gene	gene with protein product	"Refsum disease"	601757				9090381, 10673331	Standard	NM_000288		Approved	PTS2R, RD	uc003qhd.3	O00628	OTTHUMG00000015650	ENST00000318471.4:c.654G>A	6.37:g.137191048G>A						PEX7_ENST00000318471.4_Silent_p.A218A	p.A218A			O00628	PEX7_HUMAN		GBM - Glioblastoma multiforme(68;0.000257)|OV - Ovarian serous cystadenocarcinoma(155;0.00492)	7	740	+	Colorectal(23;0.24)		218		A -> V (in RCDP1).			C0H5X6	Silent	SNP	ENST00000318471.4	37	c.654G>A	CCDS5180.1																																																																																				0.403	PEX7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042387.2	NM_000288		28	158	0	0	0	1	0	28	158					A	137191048	G	A	137191048	2	1	286	1	0	0	0	0	0	0	0	1	11751	1103	39	2		2	PEX7	6	137191048	Silent	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	601738	137191048	33924019	242	13372											
HECA	51696	broad.mit.edu	37	chr6	139487597	139487597	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tccagttcaactgcatcggcCgcgcgcgcagctggaacgag	8	6	13	14	6	1	0	1	0	0	0	3	2	2	1	2	2	4	4	2	2	2	1			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr6:139487597C>T	ENST00000367658.2	+	2	733	c.448C>T	c.(448-450)Cgc>Tgc	p.R150C	RP1-225E12.2_ENST00000590679.1_RNA|RP1-225E12.3_ENST00000585874.1_RNA|RP1-225E12.2_ENST00000415194.2_RNA|RP1-225E12.2_ENST00000589192.1_RNA|RP1-225E12.2_ENST00000587577.1_RNA|RP1-225E12.2_ENST00000588638.1_RNA|RP1-225E12.2_ENST00000588529.1_RNA|RP1-225E12.2_ENST00000586229.1_RNA|RP1-225E12.2_ENST00000586266.1_RNA	NM_016217.2	NP_057301.1	Q9UBI9	HDC_HUMAN	headcase homolog (Drosophila)	150					respiratory tube development (GO:0030323)	membrane (GO:0016020)				endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)	15				GBM - Glioblastoma multiforme(68;0.000252)|OV - Ovarian serous cystadenocarcinoma(155;0.000387)		CTGCATCGGCCGCGCGCGCAG	0.617																																						ENST00000367658.2																			0				endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)	15						c.(448-450)Cgc>Tgc		headcase homolog (Drosophila)							75	74	74					6																	139487597		2203	4300	6503	SO:0001583	missense	51696				respiratory tube development			g.chr6:139487597C>T	AB033492	CCDS5194.1	6q23-q24	2010-11-25			ENSG00000112406	ENSG00000112406			21041	protein-coding gene	gene with protein product		607977				11696983, 19643820	Standard	NM_016217		Approved	HDCL, hHDC, HDC, dJ225E12.1	uc003qin.3	Q9UBI9	OTTHUMG00000015686	ENST00000367658.2:c.448C>T	6.37:g.139487597C>T	ENSP00000356630:p.Arg150Cys					RP1-225E12.3_ENST00000585874.1_RNA|RP1-225E12.2_ENST00000588529.1_RNA|RP1-225E12.2_ENST00000589192.1_RNA|RP1-225E12.2_ENST00000587577.1_RNA|RP1-225E12.2_ENST00000415194.2_RNA|RP1-225E12.2_ENST00000588638.1_RNA|RP1-225E12.2_ENST00000586229.1_RNA|RP1-225E12.2_ENST00000586266.1_RNA|RP1-225E12.2_ENST00000590679.1_RNA	p.R150C	NM_016217.2	NP_057301.1	Q9UBI9	HDC_HUMAN		GBM - Glioblastoma multiforme(68;0.000252)|OV - Ovarian serous cystadenocarcinoma(155;0.000387)	2	733	+			150						Missense_Mutation	SNP	ENST00000367658.2	37	c.448C>T	CCDS5194.1	.	.	.	.	.	.	.	.	.	.	C	16.08	3.022782	0.54683	.	.	ENSG00000112406	ENST00000367658	.	.	.	5.02	3.16	0.36331	.	0.000000	0.85682	D	0.000000	T	0.67998	0.2953	M	0.62088	1.915	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.72877	-0.4159	9	0.87932	D	0	.	13.0472	0.58933	0.6208:0.3792:0.0:0.0	.	150	Q9UBI9	HDC_HUMAN	C	150	.	ENSP00000356630:R150C	R	+	1	0	HECA	139529290	1.000000	0.71417	0.998000	0.56505	0.716000	0.41182	2.197000	0.42696	0.747000	0.32809	0.655000	0.94253	CGC		0.617	HECA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042456.1	NM_016217		22	64	0	0	0	1	0	22	64					T	139487597	C	T	139487597	3	4	286	1	0	0	0	0	1	0	0	0	7038	652	23	2	454	2	HECA	6	139487597	Missense_Mutation	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	2296549	139487597	31627470	243	13373											
SASH1	23328	broad.mit.edu	37	chr6	148865589	148865589	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctgccaaaaagagcagagaaCgccttgctaacggactccac	14	5	9	13	2	0	2	0	0	0	2	1	4	1	3	3	1	5	2	3	1	4	2			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr6:148865589C>T	ENST00000367467.3	+	18	3458	c.2983C>T	c.(2983-2985)Cgc>Tgc	p.R995C		NM_015278.3	NP_056093.3	O94885	SASH1_HUMAN	SAM and SH3 domain containing 1	995	Pro-rich.				positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of lipopolysaccharide-mediated signaling pathway (GO:0031666)|positive regulation of NIK/NF-kappaB signaling (GO:1901224)|positive regulation of p38MAPK cascade (GO:1900745)|protein polyubiquitination (GO:0000209)|regulation of protein autoubiquitination (GO:1902498)|regulation of protein K63-linked ubiquitination (GO:1900044)	membrane (GO:0016020)|protein complex (GO:0043234)	mitogen-activated protein kinase kinase kinase binding (GO:0031435)|protein C-terminus binding (GO:0008022)|protein complex scaffold (GO:0032947)|protein kinase binding (GO:0019901)			breast(4)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Ovarian(120;0.0169)		OV - Ovarian serous cystadenocarcinoma(155;5.63e-11)|GBM - Glioblastoma multiforme(68;0.0701)		GAGCAGAGAACGCCTTGCTAA	0.612																																						ENST00000367467.3																			0				breast(4)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						c.(2983-2985)Cgc>Tgc		SAM and SH3 domain containing 1							62	68	66					6																	148865589		2203	4300	6503	SO:0001583	missense	23328						protein binding	g.chr6:148865589C>T	AB018333	CCDS5212.1	6q24.3	2013-01-10			ENSG00000111961	ENSG00000111961		"SAM and SH3 domain containing", "Sterile alpha motif (SAM) domain containing"	19182	protein-coding gene	gene with protein product		607955				9872452, 12771949	Standard	NM_015278		Approved	KIAA0790, dJ323M4.1, SH3D6A	uc003qme.1	O94885	OTTHUMG00000015773	ENST00000367467.3:c.2983C>T	6.37:g.148865589C>T	ENSP00000356437:p.Arg995Cys						p.R995C	NM_015278.3	NP_056093.3	O94885	SASH1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.63e-11)|GBM - Glioblastoma multiforme(68;0.0701)	18	3458	+		Ovarian(120;0.0169)	995			Pro-rich.		Q5TGN5|Q8TAI0|Q9H7R7	Missense_Mutation	SNP	ENST00000367467.3	37	c.2983C>T	CCDS5212.1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.290938	0.80914	.	.	ENSG00000111961	ENST00000367467;ENST00000537769	T	0.60920	0.15	5.2	5.2	0.72013	.	0.051985	0.85682	D	0.000000	T	0.63604	0.2525	L	0.36672	1.1	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.997	T	0.68307	-0.5443	10	0.87932	D	0	-26.4272	18.7516	0.91818	0.0:1.0:0.0:0.0	.	976;995	Q6P4R9;O94885	.;SASH1_HUMAN	C	995;405	ENSP00000356437:R995C	ENSP00000356437:R995C	R	+	1	0	SASH1	148907282	1.000000	0.71417	0.999000	0.59377	0.958000	0.62258	4.460000	0.60108	2.433000	0.82419	0.650000	0.86243	CGC		0.612	SASH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042619.1	NM_015278		13	71	0	0	0	1	0	13	71					T	148865589	C	T	148865589	3	4	286	1	0	0	0	0	1	0	0	0	13848	536	19	1	3053	1	SASH1	6	148865589	Missense_Mutation	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	9377992	148865589	22249478	244	13374											
AKAP12	9590	broad.mit.edu	37	chr6	151670568	151670568	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gaaaggcagaggttgcctccGagaaactgaccgcctccgag	11	5	13	12	3	0	3	0	1	0	2	2	6	2	3	5	2	2	2	5	2	2	1	rs200318359		TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr6:151670568G>A	ENST00000253332.1	+	3	1231	c.1042G>A	c.(1042-1044)Gag>Aag	p.E348K	AKAP12_ENST00000354675.6_Missense_Mutation_p.E250K|AKAP12_ENST00000402676.2_Missense_Mutation_p.E348K|AKAP12_ENST00000359755.5_Missense_Mutation_p.E243K|snoU13_ENST00000458767.1_RNA			Q02952	AKA12_HUMAN	A kinase (PRKA) anchor protein 12	348	Involved in PKC-binding. {ECO:0000305}.				G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of protein kinase A signaling (GO:0010739)|protein targeting (GO:0006605)|regulation of protein kinase C signaling (GO:0090036)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)	adenylate cyclase binding (GO:0008179)|protein kinase A binding (GO:0051018)			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	68		Ovarian(120;0.125)	BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.98e-11)		GGTTGCCTCCGAGAAACTGAC	0.537																																					Melanoma(141;1616 1805 10049 24534 51979)	ENST00000402676.2																			0				breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	68						c.(1042-1044)Gag>Aag		A kinase (PRKA) anchor protein 12		G	LYS/GLU,LYS/GLU	1,4405	2.1+/-5.4	0,1,2202	56	70	65		1042,748	3.7	0.1	6		65	0,8600		0,0,4300	yes	missense,missense	AKAP12	NM_005100.3,NM_144497.2	56,56	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	possibly-damaging,possibly-damaging	348/1783,250/1685	151670568	1,13005	2203	4300	6503	SO:0001583	missense	9590				G-protein coupled receptor protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of protein kinase A signaling cascade|protein targeting	cell cortex|cytoskeleton|plasma membrane	adenylate cyclase binding|protein kinase A binding	g.chr6:151670568G>A	U81607	CCDS5229.1, CCDS5230.1	6q24-q25	2011-07-01	2008-08-29		ENSG00000131016	ENSG00000131016		"A-kinase anchor proteins"	370	protein-coding gene	gene with protein product	"gravin", "Src-Suppressed C Kinase Substrate"	604698	"A kinase (PRKA) anchor protein (gravin) 12"			9000000	Standard	NM_144497		Approved	AKAP250, SSeCKS	uc011eep.2	Q02952	OTTHUMG00000015833	ENST00000253332.1:c.1042G>A	6.37:g.151670568G>A	ENSP00000253332:p.Glu348Lys					AKAP12_ENST00000359755.5_Missense_Mutation_p.E243K|AKAP12_ENST00000354675.6_Missense_Mutation_p.E250K|AKAP12_ENST00000253332.1_Missense_Mutation_p.E348K	p.E348K	NM_005100.3	NP_005091.2	Q02952	AKA12_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.98e-11)	4	1282	+		Ovarian(120;0.125)	348			Involved in PKC-binding (Probable).		O00310|O00498|Q4LE68|Q5SZ80|Q5TGN1|Q68D82|Q99970	Missense_Mutation	SNP	ENST00000253332.1	37	c.1042G>A	CCDS5229.1	.	.	.	.	.	.	.	.	.	.	G	19.22	3.786394	0.70337	2.27E-4	0.0	ENSG00000131016	ENST00000402676;ENST00000253332;ENST00000354675;ENST00000359755	T;T;T;T	0.10477	2.87;2.87;2.89;2.89	4.52	3.65	0.41850	.	0.000000	0.36303	N	0.002671	T	0.11067	0.0270	M	0.62723	1.935	0.25185	N	0.990178	D;D;D	0.89917	1.0;1.0;0.999	D;D;P	0.64595	0.927;0.927;0.847	T	0.10917	-1.0609	10	0.22109	T	0.4	.	8.7505	0.34613	0.1069:0.0:0.8931:0.0	.	243;250;348	Q02952-3;Q02952-2;Q02952	.;.;AKA12_HUMAN	K	348;348;250;243	ENSP00000384537:E348K;ENSP00000253332:E348K;ENSP00000346702:E250K;ENSP00000352794:E243K	ENSP00000253332:E348K	E	+	1	0	AKAP12	151712261	0.995000	0.38212	0.092000	0.20876	0.065000	0.16274	2.216000	0.42871	1.042000	0.40150	0.609000	0.83330	GAG		0.537	AKAP12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042712.1			7	69	0	0	0	1	0	7	69					A	151670568	G	A	151670568	3	1	286	1	0	0	0	0	1	0	0	0	448	1059	37	2	1081	2	AKAP12	6	151670568	Missense_Mutation	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	2804979	151670568	19444499	245	13375											
SYNE1	23345	broad.mit.edu	37	chr6	152674405	152674405	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatgcgtgcctacctccaacGtcttcaatttcttccccatc	7	14	4	16	2	3	0	1	0	2	0	6	0	5	0	5	0	4	0	5	0	4	5			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr6:152674405G>A	ENST00000367255.5	-	69	11847	c.11246C>T	c.(11245-11247)aCg>aTg	p.T3749M	SYNE1_ENST00000423061.1_Missense_Mutation_p.T3734M|SYNE1_ENST00000265368.4_Missense_Mutation_p.T3749M|SYNE1_ENST00000448038.1_Missense_Mutation_p.T3734M|SYNE1_ENST00000341594.5_Missense_Mutation_p.T3720M	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	3749					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TACCTCCAACGTCTTCAATTT	0.423										HNSCC(10;0.0054)																												ENST00000367255.5																			0				NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524						c.(11245-11247)aCg>aTg		spectrin repeat containing, nuclear envelope 1							225	202	210					6																	152674405		2203	4300	6503	SO:0001583	missense	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152674405G>A	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"myocyte nuclear envelope protein 1", "nuclear envelope spectrin repeat-1"	608441	"chromosome 6 open reading frame 98"	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.11246C>T	6.37:g.152674405G>A	ENSP00000356224:p.Thr3749Met	HNSCC(10;0.0054)				SYNE1_ENST00000265368.4_Missense_Mutation_p.T3749M|SYNE1_ENST00000448038.1_Missense_Mutation_p.T3734M|SYNE1_ENST00000423061.1_Missense_Mutation_p.T3734M|SYNE1_ENST00000341594.5_Missense_Mutation_p.T3720M	p.T3749M	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	69	11847	-		Ovarian(120;0.0955)	3749					E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	c.11246C>T	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	G	1.251	-0.618485	0.03663	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594	T;T;T;T;T	0.56611	0.55;0.64;0.45;0.64;1.33	5.61	0.839	0.18907	.	0.837508	0.10492	N	0.668344	T	0.22513	0.0543	L	0.51422	1.61	0.31461	N	0.669509	B;B;B;B	0.17038	0.02;0.02;0.02;0.016	B;B;B;B	0.13407	0.003;0.003;0.003;0.009	T	0.06570	-1.0819	10	0.46703	T	0.11	.	4.888	0.13713	0.3633:0.0:0.4352:0.2015	.	3749;3749;3749;3734	B7ZBC3;Q8NF91;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.	M	3749;3734;3749;3734;3720	ENSP00000356224:T3749M;ENSP00000396024:T3734M;ENSP00000265368:T3749M;ENSP00000390975:T3734M;ENSP00000341887:T3720M	ENSP00000265368:T3749M	T	-	2	0	SYNE1	152716098	0.845000	0.29573	0.003000	0.11579	0.051000	0.14879	1.242000	0.32755	-0.139000	0.11414	-0.150000	0.13652	ACG		0.423	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		27	137	0	0	0	1	0	27	137					A	152674405	G	A	152674405	3	1	286	1	0	0	0	0	1	0	0	0	15442	1145	40	1	15532	1	SYNE1	6	152674405	Missense_Mutation	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	1003837	152674405	18440662	246	13376											
SYNE1	23345	broad.mit.edu	37	chr6	152718084	152718084	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gagtcactgcatcaagtttgCtctgcccatcactgactgag	9	11	9	12	0	4	2	3	2	1	0	4	3	4	2	1	0	3	3	1	0	1	1			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr6:152718084C>T	ENST00000367255.5	-	50	7983	c.7382G>A	c.(7381-7383)aGc>aAc	p.S2461N	SYNE1_ENST00000423061.1_Missense_Mutation_p.S2468N|SYNE1_ENST00000265368.4_Missense_Mutation_p.S2461N|SYNE1_ENST00000448038.1_Missense_Mutation_p.S2468N|SYNE1_ENST00000341594.5_Missense_Mutation_p.S2500N	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	2461					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		ATCAAGTTTGCTCTGCCCATC	0.383										HNSCC(10;0.0054)																												ENST00000367255.5																			0				NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524						c.(7381-7383)aGc>aAc		spectrin repeat containing, nuclear envelope 1							159	137	145					6																	152718084		2203	4300	6503	SO:0001583	missense	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152718084C>T	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"myocyte nuclear envelope protein 1", "nuclear envelope spectrin repeat-1"	608441	"chromosome 6 open reading frame 98"	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.7382G>A	6.37:g.152718084C>T	ENSP00000356224:p.Ser2461Asn	HNSCC(10;0.0054)				SYNE1_ENST00000265368.4_Missense_Mutation_p.S2461N|SYNE1_ENST00000448038.1_Missense_Mutation_p.S2468N|SYNE1_ENST00000423061.1_Missense_Mutation_p.S2468N|SYNE1_ENST00000341594.5_Missense_Mutation_p.S2500N	p.S2461N	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	50	7983	-		Ovarian(120;0.0955)	2461					E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	c.7382G>A	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	C	11.93	1.786645	0.31593	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594	T;T;T;T;T	0.55234	0.62;0.61;0.53;0.61;0.67	6.07	4.08	0.47627	.	0.417919	0.24710	N	0.036226	T	0.15955	0.0384	N	0.12746	0.255	0.80722	D	1	B;B;B;B	0.10296	0.001;0.001;0.001;0.003	B;B;B;B	0.11329	0.002;0.003;0.003;0.006	T	0.07139	-1.0788	10	0.22109	T	0.4	.	10.019	0.42031	0.0:0.7663:0.0:0.2337	.	2444;2461;2461;2468	B3W695;Q8NF91;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.	N	2461;2468;2461;2468;2500	ENSP00000356224:S2461N;ENSP00000396024:S2468N;ENSP00000265368:S2461N;ENSP00000390975:S2468N;ENSP00000341887:S2500N	ENSP00000265368:S2461N	S	-	2	0	SYNE1	152759777	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	1.574000	0.36482	1.572000	0.49736	0.655000	0.94253	AGC		0.383	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		4	45	0	0	0	1	0	4	45					T	152718084	C	T	152718084	3	4	286	1	0	0	0	0	1	0	0	0	15442	797	28	3	19472	3	SYNE1	6	152718084	Missense_Mutation	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	43679	152718084	18396983	247	13377											
SYNJ2	8871	broad.mit.edu	37	chr6	158483059	158483059	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttgccacgcgggcgacacGcctatgatcaattttgactt	8	12	9	12	4	2	2	1	2	1	0	2	3	2	2	2	1	1	0	2	1	2	5			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr6:158483059G>A	ENST00000355585.4	+	8	1065	c.990G>A	c.(988-990)acG>acA	p.T330T	SYNJ2_ENST00000367121.3_Silent_p.T330T|SYNJ2_ENST00000449859.2_Intron|SYNJ2_ENST00000367122.2_Silent_p.T330T	NM_001178088.1|NM_003898.3	NP_001171559.1|NP_003889.1	O15056	SYNJ2_HUMAN	synaptojanin 2	330	SAC. {ECO:0000255|PROSITE- ProRule:PRU00183}.				phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|membrane (GO:0016020)	nucleotide binding (GO:0000166)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)|RNA binding (GO:0003723)			biliary_tract(1)|endometrium(9)|kidney(3)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05)		CGGGCGACACGCCTATGATCA	0.562																																						ENST00000355585.4																			0				biliary_tract(1)|endometrium(9)|kidney(3)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						c.(988-990)acG>acA		synaptojanin 2							167	176	173					6																	158483059		2203	4300	6503	SO:0001819	synonymous_variant	8871						nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding	g.chr6:158483059G>A	AB002346	CCDS5254.1	6q25.3	2008-05-15			ENSG00000078269	ENSG00000078269			11504	protein-coding gene	gene with protein product		609410					Standard	NM_003898		Approved	INPP5H	uc003qqx.2	O15056	OTTHUMG00000015904	ENST00000355585.4:c.990G>A	6.37:g.158483059G>A						SYNJ2_ENST00000449859.2_Intron|SYNJ2_ENST00000367122.2_Silent_p.T330T|SYNJ2_ENST00000367121.3_Silent_p.T330T	p.T330T	NM_001178088.1|NM_003898.3	NP_001171559.1|NP_003889.1	O15056	SYNJ2_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05)	8	1065	+			330			SAC.		Q5TA13|Q5TA16|Q5TA19|Q86XK0|Q8IZA8|Q9H226	Silent	SNP	ENST00000355585.4	37	c.990G>A	CCDS5254.1																																																																																				0.562	SYNJ2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042858.2			27	169	0	0	0	1	0	27	169					A	158483059	G	A	158483059	2	1	286	1	0	0	0	0	0	0	0	1	15450	1074	38	1		1	SYNJ2	6	158483059	Silent	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	5764975	158483059	12632008	248	13378											
IGF2R	3482	broad.mit.edu	37	chr6	160468851	160468851	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ataactccacctacaacttcCggtggtacaccagctatgcc	11	9	6	15	1	0	0	0	0	0	0	2	0	2	0	5	2	6	2	5	2	5	5	rs146539241		TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr6:160468851C>T	ENST00000356956.1	+	17	2405	c.2257C>T	c.(2257-2259)Cgg>Tgg	p.R753W		NM_000876.2	NP_000867	P11717	MPRI_HUMAN	insulin-like growth factor 2 receptor	753					insulin-like growth factor receptor signaling pathway (GO:0048009)|liver development (GO:0001889)|organ regeneration (GO:0031100)|positive regulation of apoptotic process (GO:0043065)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|response to retinoic acid (GO:0032526)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)	cell surface (GO:0009986)|clathrin coat (GO:0030118)|endocytic vesicle (GO:0030139)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)|nuclear envelope lumen (GO:0005641)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network transport vesicle (GO:0030140)	G-protein coupled receptor activity (GO:0004930)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|insulin-like growth factor-activated receptor activity (GO:0005010)|mannose binding (GO:0005537)|phosphoprotein binding (GO:0051219)|receptor activity (GO:0004872)|retinoic acid binding (GO:0001972)|transporter activity (GO:0005215)			breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Breast(66;0.000777)|Ovarian(120;0.0305)		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)	Mecasermin(DB01277)	CTACAACTTCCGGTGGTACAC	0.547																																						ENST00000356956.1																			0				breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	95						c.(2257-2259)Cgg>Tgg		insulin-like growth factor 2 receptor		C	TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	107	97	100		2257	4.2	1	6	dbSNP_134	100	1,8599	1.2+/-3.3	0,1,4299	no	missense	IGF2R	NM_000876.2	101	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	probably-damaging	753/2492	160468851	2,13004	2203	4300	6503	SO:0001583	missense	3482				receptor-mediated endocytosis	cell surface|endocytic vesicle|endosome|integral to plasma membrane|lysosomal membrane|trans-Golgi network transport vesicle	glycoprotein binding|insulin-like growth factor receptor activity|phosphoprotein binding|transporter activity	g.chr6:160468851C>T	J03528	CCDS5273.1	6q25.3	2014-09-16			ENSG00000197081	ENSG00000197081		"CD molecules"	5467	protein-coding gene	gene with protein product	"cation-independent mannose-6 phosphate receptor"	147280					Standard	NM_000876		Approved	CD222, MPRI, MPR1, CIMPR, M6P-R	uc003qta.3	P11717	OTTHUMG00000015945	ENST00000356956.1:c.2257C>T	6.37:g.160468851C>T	ENSP00000349437:p.Arg753Trp						p.R753W	NM_000876.2	NP_000867.2	P11717	MPRI_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)	17	2405	+		Breast(66;0.000777)|Ovarian(120;0.0305)	753					Q7Z7G9|Q96PT5	Missense_Mutation	SNP	ENST00000356956.1	37	c.2257C>T	CCDS5273.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.234134	0.79688	2.27E-4	1.16E-4	ENSG00000197081	ENST00000356956	T	0.02197	4.4	5.14	4.18	0.49190	Mannose-6-phosphate receptor, binding (1);	0.225102	0.42420	D	0.000716	T	0.08313	0.0207	M	0.84948	2.725	0.39940	D	0.974391	D	0.89917	1.0	D	0.77557	0.99	T	0.00380	-1.1776	10	0.87932	D	0	-11.437	12.4594	0.55723	0.2959:0.7041:0.0:0.0	.	753	P11717	MPRI_HUMAN	W	753	ENSP00000349437:R753W	ENSP00000349437:R753W	R	+	1	2	IGF2R	160388841	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.976000	0.56867	2.407000	0.81776	0.561000	0.74099	CGG		0.547	IGF2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042931.1	NM_000876		24	85	0	0	0	1	0	24	85					T	160468851	C	T	160468851	3	4	286	1	0	0	0	0	1	0	0	0	7576	643	23	2	2323	2	IGF2R	6	160468851	Missense_Mutation	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	1985792	160468851	10646216	249	13379											
IGF2R	3482	broad.mit.edu	37	chr6	160494345	160494345	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtgtacaaggatgggtccccTtgtccctccaaatccggcct	7	10	10	14	1	0	0	0	0	0	0	4	1	4	1	6	3	1	1	6	3	3	2			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr6:160494345T>C	ENST00000356956.1	+	34	4939	c.4791T>C	c.(4789-4791)ccT>ccC	p.P1597P		NM_000876.2	NP_000867	P11717	MPRI_HUMAN	insulin-like growth factor 2 receptor	1597					insulin-like growth factor receptor signaling pathway (GO:0048009)|liver development (GO:0001889)|organ regeneration (GO:0031100)|positive regulation of apoptotic process (GO:0043065)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|response to retinoic acid (GO:0032526)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)	cell surface (GO:0009986)|clathrin coat (GO:0030118)|endocytic vesicle (GO:0030139)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)|nuclear envelope lumen (GO:0005641)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network transport vesicle (GO:0030140)	G-protein coupled receptor activity (GO:0004930)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|insulin-like growth factor-activated receptor activity (GO:0005010)|mannose binding (GO:0005537)|phosphoprotein binding (GO:0051219)|receptor activity (GO:0004872)|retinoic acid binding (GO:0001972)|transporter activity (GO:0005215)			breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Breast(66;0.000777)|Ovarian(120;0.0305)		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)	Mecasermin(DB01277)	ATGGGTCCCCTTGTCCCTCCA	0.577																																						ENST00000356956.1																			0				breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	95						c.(4789-4791)ccT>ccC		insulin-like growth factor 2 receptor							193	145	162					6																	160494345		2203	4300	6503	SO:0001819	synonymous_variant	3482				receptor-mediated endocytosis	cell surface|endocytic vesicle|endosome|integral to plasma membrane|lysosomal membrane|trans-Golgi network transport vesicle	glycoprotein binding|insulin-like growth factor receptor activity|phosphoprotein binding|transporter activity	g.chr6:160494345T>C	J03528	CCDS5273.1	6q25.3	2014-09-16			ENSG00000197081	ENSG00000197081		"CD molecules"	5467	protein-coding gene	gene with protein product	"cation-independent mannose-6 phosphate receptor"	147280					Standard	NM_000876		Approved	CD222, MPRI, MPR1, CIMPR, M6P-R	uc003qta.3	P11717	OTTHUMG00000015945	ENST00000356956.1:c.4791T>C	6.37:g.160494345T>C							p.P1597P	NM_000876.2	NP_000867.2	P11717	MPRI_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)	34	4939	+		Breast(66;0.000777)|Ovarian(120;0.0305)	1597					Q7Z7G9|Q96PT5	Silent	SNP	ENST00000356956.1	37	c.4791T>C	CCDS5273.1																																																																																				0.577	IGF2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042931.1	NM_000876		11	30	0	0	0	1	0	11	30					C	160494345	T	C	160494345	2	2	286	1	0	0	0	0	0	0	0	1	7576	1596	56	4		4	IGF2R	6	160494345	Silent	SNP	T	TCGA-J9-A52C-01A-11D-A26M-08	25494	160494345	10620722	250	13380											
THBS2	7058	broad.mit.edu	37	chr6	169629715	169629715	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgtcatcatcacaggcatcGccaatcccgtccttgtcaaa	10	10	6	15	3	4	0	4	0	0	0	8	0	6	0	3	1	0	1	3	1	2	1			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr6:169629715G>A	ENST00000366787.3	-	15	2460	c.2211C>T	c.(2209-2211)ggC>ggT	p.G737G	XXyac-YX65C7_A.2_ENST00000444188.1_RNA	NM_003247.2	NP_003238.2	P35442	TSP2_HUMAN	thrombospondin 2	737					cell adhesion (GO:0007155)|negative regulation of angiogenesis (GO:0016525)|positive regulation of synapse assembly (GO:0051965)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|platelet alpha granule (GO:0031091)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)			NS(3)|biliary_tract(1)|endometrium(8)|kidney(3)|large_intestine(23)|liver(1)|lung(56)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	111		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)		CACAGGCATCGCCAATCCCGT	0.527																																					Esophageal Squamous(91;219 1934 18562 44706)	ENST00000366787.3																			0				NS(3)|biliary_tract(1)|endometrium(8)|kidney(3)|large_intestine(23)|liver(1)|lung(56)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	111						c.(2209-2211)ggC>ggT		thrombospondin 2							205	178	187					6																	169629715		2203	4300	6503	SO:0001819	synonymous_variant	7058				cell adhesion	extracellular region	calcium ion binding|heparin binding|protein binding|structural molecule activity	g.chr6:169629715G>A		CCDS34574.1	6q27	2008-07-28			ENSG00000186340	ENSG00000186340			11786	protein-coding gene	gene with protein product		188061				18455130	Standard	NM_003247		Approved	TSP2	uc003qwt.3	P35442	OTTHUMG00000045408	ENST00000366787.3:c.2211C>T	6.37:g.169629715G>A						XXyac-YX65C7_A.2_ENST00000444188.1_RNA	p.G737G	NM_003247.2	NP_003238.2	P35442	TSP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)	15	2460	-		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)	737					A6H8N1|A7E232|Q5RI52	Silent	SNP	ENST00000366787.3	37	c.2211C>T	CCDS34574.1																																																																																				0.527	THBS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000105439.1	NM_003247		16	83	0	0	0	1	0	16	83					A	169629715	G	A	169629715	2	1	286	1	0	0	0	0	0	0	0	1	15851	1074	38	1		1	THBS2	6	169629715	Silent	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	9135370	169629715	1485352	251	13381											
C6orf70	55780	broad.mit.edu	37	chr6	170159960	170159960	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcaatgatgatactgttgaCggcaggattgggtcagttac	10	13	12	6	1	2	3	2	3	0	0	2	4	2	4	0	3	2	3	0	3	3	5			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr6:170159960C>T	ENST00000366773.3	+	7	665	c.632C>T	c.(631-633)aCg>aTg	p.T211M	ERMARD_ENST00000418781.3_Missense_Mutation_p.T211M|ERMARD_ENST00000392095.4_Missense_Mutation_p.T85M|ERMARD_ENST00000588451.1_Missense_Mutation_p.T85M|ERMARD_ENST00000366772.2_Missense_Mutation_p.T211M	NM_001278532.1|NM_018341.1	NP_001265461.1|NP_060811.1	Q5T6L9	EMARD_HUMAN	ER membrane-associated RNA degradation	211					multicellular organismal development (GO:0007275)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)											ATACTGTTGACGGCAGGATTG	0.358																																						ENST00000588451.1																			0				breast(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(7)|ovary(1)	20						c.(253-255)aCg>aTg									191	175	180					6																	170159960		2203	4300	6503	SO:0001583	missense	0					integral to membrane		g.chr6:170159960C>T	AK002014	CCDS34576.1, CCDS64572.1, CCDS64573.1, CCDS64574.1	6q27	2013-08-28	2013-08-28	2013-08-28	ENSG00000130023	ENSG00000130023			21056	protein-coding gene	gene with protein product		615532	"chromosome 6 open reading frame 70"	C6orf70		23768067	Standard	NM_018341		Approved	FLJ11152, dJ266L20.3	uc003qxg.1	Q5T6L9	OTTHUMG00000016067	ENST00000366773.3:c.632C>T	6.37:g.170159960C>T	ENSP00000355735:p.Thr211Met					C6orf70_ENST00000366773.3_Missense_Mutation_p.T211M|C6orf70_ENST00000366772.2_Missense_Mutation_p.T211M|C6orf70_ENST00000418781.3_Missense_Mutation_p.T211M|C6orf70_ENST00000392095.4_Missense_Mutation_p.T85M	p.T85M			Q5T6L9	CF070_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;1.2e-22)|BRCA - Breast invasive adenocarcinoma(81;1.49e-07)|GBM - Glioblastoma multiforme(31;0.00191)	7	767	+		Breast(66;5.08e-05)|Ovarian(120;0.208)	211					B4DFH0|F8WAF1|Q3ZCS8|Q5T6L8|Q9NUT5|Q9NVU2	Missense_Mutation	SNP	ENST00000366773.3	37	c.254C>T	CCDS34576.1	.	.	.	.	.	.	.	.	.	.	C	11.99	1.802304	0.31869	.	.	ENSG00000130023	ENST00000366773;ENST00000366772;ENST00000418781;ENST00000392095	T;T	0.49139	0.8;0.79	4.93	3.15	0.36227	.	0.000000	0.56097	D	0.000040	T	0.51568	0.1682	M	0.73598	2.24	0.29594	N	0.848199	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.74023	0.982;0.942;0.978	T	0.51458	-0.8703	10	0.87932	D	0	.	8.9183	0.35596	0.0:0.8221:0.0:0.1779	.	211;211;211	Q5T6L9-3;Q5T6L9-2;Q5T6L9	.;.;CF070_HUMAN	M	211;211;211;85	ENSP00000355735:T211M;ENSP00000375945:T85M	ENSP00000355734:T211M	T	+	2	0	C6orf70	169901885	0.998000	0.40836	0.159000	0.22649	0.142000	0.21351	2.965000	0.49200	0.599000	0.29845	0.563000	0.77884	ACG		0.358	ERMARD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043238.2	NM_018341		8	44	0	0	0	1	0	8	44					T	170159960	C	T	170159960	3	4	286	1	0	0	0	0	1	0	0	0	2370	536	19	1	658	1	C6orf70	6	170159960	Missense_Mutation	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	530245	170159960	955107	252	13382											
INTS1	26173	broad.mit.edu	37	chr7	1527550	1527550	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acggttcagcatctccgtccGggtctcctcatccgtcaggg	5	10	11	15	4	5	0	3	0	2	0	9	0	7	0	4	3	1	2	4	3	0	1			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr7:1527550G>A	ENST00000404767.3	-	19	2447	c.2362C>T	c.(2362-2364)Cgg>Tgg	p.R788W	INTS1_ENST00000389470.4_Missense_Mutation_p.R916W	NM_001080453.2	NP_001073922.2	Q8N201	INT1_HUMAN	integrator complex subunit 1	788					inner cell mass cell proliferation (GO:0001833)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|snRNA processing (GO:0016180)|U2 snRNA 3'-end processing (GO:0034474)	integral component of membrane (GO:0016021)|integrator complex (GO:0032039)|membrane (GO:0016020)				autonomic_ganglia(1)|cervix(1)|endometrium(14)|kidney(3)|large_intestine(7)|lung(24)|ovary(1)|prostate(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	62		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15)		ATCTCCGTCCGGGTCTCCTCA	0.667																																						ENST00000389470.4																			0				autonomic_ganglia(1)|cervix(1)|endometrium(14)|kidney(3)|large_intestine(7)|lung(24)|ovary(1)|prostate(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	62						c.(2746-2748)Cgg>Tgg		integrator complex subunit 1							111	126	121					7																	1527550		2123	4238	6361	SO:0001583	missense	26173				snRNA processing	integral to membrane|integrator complex|nuclear membrane		g.chr7:1527550G>A	AB037861	CCDS47526.1	7p22.3	2009-11-06			ENSG00000164880	ENSG00000164880			24555	protein-coding gene	gene with protein product		611345				16239144	Standard	NM_001080453		Approved	DKFZp586J0619, KIAA1440, INT1, NET28	uc003skn.2	Q8N201	OTTHUMG00000151449	ENST00000404767.3:c.2362C>T	7.37:g.1527550G>A	ENSP00000385722:p.Arg788Trp					INTS1_ENST00000404767.3_Missense_Mutation_p.R788W	p.R916W			Q8N201	INT1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15)	20	2745	-		Ovarian(82;0.0253)	788					A6NJ44|Q6NT70|Q6UX74|Q8WV40|Q96D36|Q9NTD1|Q9P2A8|Q9Y3W8	Missense_Mutation	SNP	ENST00000404767.3	37	c.2746C>T	CCDS47526.1	.	.	.	.	.	.	.	.	.	.	G	16.33	3.094298	0.56075	.	.	ENSG00000164880	ENST00000404767;ENST00000389470	T;T	0.47177	0.86;0.85	4.74	3.83	0.44106	.	0.064498	0.64402	D	0.000009	T	0.50360	0.1611	L	0.29908	0.895	0.41325	D	0.987207	D;D	0.76494	0.997;0.999	P;P	0.58970	0.776;0.849	T	0.53107	-0.8485	10	0.66056	D	0.02	.	11.8231	0.52250	0.0:0.0:0.6703:0.3297	.	916;788	A4D213;Q8N201	.;INT1_HUMAN	W	788;916	ENSP00000385722:R788W;ENSP00000374121:R916W	ENSP00000374121:R916W	R	-	1	2	INTS1	1494076	1.000000	0.71417	0.129000	0.21949	0.476000	0.33039	4.459000	0.60102	0.928000	0.37168	0.561000	0.74099	CGG		0.667	INTS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323683.1			33	145	0	0	0	1	0	33	145					A	1527550	G	A	1527550	3	1	286	1	0	0	0	0	1	0	0	0	7775	1115	39	2	4330	2	INTS1	7	1527550	Missense_Mutation	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08		1527550	157611113	253	13383											
THSD7A	221981	broad.mit.edu	37	chr7	11630114	11630114	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttcttgtgggtacttaattGtgagaggaggttttcgttgg	6	17	15	3	1	1	1	0	1	1	1	2	3	1	2	0	4	1	4	0	4	2	8			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr7:11630114G>A	ENST00000423059.4	-	4	1677	c.1426C>T	c.(1426-1428)Caa>Taa	p.Q476*		NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	476	TSP type-1 4. {ECO:0000255|PROSITE- ProRule:PRU00210}.				angiogenesis (GO:0001525)|cell differentiation (GO:0030154)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		GTACTTAATTGTGAGAGGAGG	0.507										HNSCC(18;0.044)																												ENST00000423059.3																			0				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113						c.(1426-1428)Caa>Taa		thrombospondin, type I, domain containing 7A							90	94	92					7																	11630114		1935	4137	6072	SO:0001587	stop_gained	221981					integral to membrane		g.chr7:11630114G>A		CCDS47543.1	7p21.3	2006-10-16			ENSG00000005108	ENSG00000005108			22207	protein-coding gene	gene with protein product		612249					Standard	NM_015204		Approved	KIAA0960	uc021zzn.1	Q9UPZ6	OTTHUMG00000152346	ENST00000423059.4:c.1426C>T	7.37:g.11630114G>A	ENSP00000406482:p.Gln476*	HNSCC(18;0.044)					p.Q476*	NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.163)	4	1677	-			476			TSP type-1 4.			Nonsense_Mutation	SNP	ENST00000423059.4	37	c.1426C>T	CCDS47543.1	.	.	.	.	.	.	.	.	.	.	G	38	6.914588	0.97932	.	.	ENSG00000005108	ENST00000262042;ENST00000423059	.	.	.	5.68	4.69	0.59074	.	0.588618	0.18916	N	0.127617	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.27082	T	0.32	.	3.7185	0.08448	0.3386:0.0:0.6614:0.0	.	.	.	.	X	476	.	ENSP00000262042:Q476X	Q	-	1	0	THSD7A	11596639	0.988000	0.35896	0.013000	0.15412	0.006000	0.05464	2.557000	0.45871	2.687000	0.91594	0.655000	0.94253	CAA		0.507	THSD7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325944.4	XM_928187.2		7	36	0	0	0	1	0	7	36					A	11630114	G	A	11630114	4	1	286	1	0	0	0	0	0	1	0	0	15876	1386	48	3	3643	3	THSD7A	7	11630114	Nonsense_Mutation	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	10102564	11630114	147508549	254	13384											
ITGB8	3696	broad.mit.edu	37	chr7	20418789	20418789	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aatatagaaaaattaaattcCgttggaaacgatttatctag	18	13	6	4	2	1	1	0	0	1	1	2	3	2	2	1	1	1	1	1	1	10	8	rs200718910		TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr7:20418789C>T	ENST00000222573.4	+	4	1188	c.504C>T	c.(502-504)tcC>tcT	p.S168S	SNORD56_ENST00000363883.1_RNA|ITGB8_ENST00000537992.1_Silent_p.S33S	NM_002214.2	NP_002205.1	P26012	ITB8_HUMAN	integrin, beta 8	168	VWFA.				cartilage development (GO:0051216)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|ganglioside metabolic process (GO:0001573)|integrin-mediated signaling pathway (GO:0007229)|negative regulation of gene expression (GO:0010629)|placenta blood vessel development (GO:0060674)|positive regulation of gene expression (GO:0010628)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integrin alphav-beta8 complex (GO:0034686)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	extracellular matrix protein binding (GO:1990430)|receptor activity (GO:0004872)	p.S168S(4)		NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(4)|stomach(2)|urinary_tract(1)	37						AATTAAATTCCGTTGGAAACG	0.338													c|||	1	0.000199681	0	0	5008	,	,		12176	0		0.001	False		,,,				2504	0					ENST00000222573.3																			4	Substitution - coding silent(4)	p.S168S(4)	large_intestine(2)|lung(2)	NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(4)|stomach(2)|urinary_tract(1)	37						c.(502-504)tcC>tcT		integrin, beta 8		T		0,4406		0,0,2203	81	87	85		504	-11.6	0.1	7		85	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	ITGB8	NM_002214.2		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		168/770	20418789	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	3696				cell-matrix adhesion|integrin-mediated signaling pathway|placenta blood vessel development	integrin complex	protein binding|receptor activity	g.chr7:20418789C>T		CCDS5370.1	7p15.3	2010-03-23			ENSG00000105855	ENSG00000105855		"Integrins"	6163	protein-coding gene	gene with protein product		604160					Standard	XM_005249751		Approved		uc003suu.3	P26012	OTTHUMG00000023594	ENST00000222573.4:c.504C>T	7.37:g.20418789C>T						ITGB8_ENST00000537992.1_Silent_p.S33S	p.S168S	NM_002214.2	NP_002205.1	P26012	ITB8_HUMAN			4	1188	+			168			VWFA.		A4D133|B4DHD4	Silent	SNP	ENST00000222573.4	37	c.504C>T	CCDS5370.1																																																																																				0.338	ITGB8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059915.3	NM_002214		7	22	0	0	0	1	0	7	22					T	20418789	C	T	20418789	2	4	286	1	0	0	0	0	0	0	0	1	7901	639	23	2		2	ITGB8	7	20418789	Silent	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	8788675	20418789	138719874	255	13385											
ABCB5	340273	broad.mit.edu	37	chr7	20668422	20668422	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tggttttaggagaaatgagtGataaccttattagtggatgt	12	15	12	2	0	0	3	0	2	0	1	0	5	0	4	1	3	1	1	1	3	5	5			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr7:20668422G>A	ENST00000404938.2	+	4	872	c.220G>A	c.(220-222)Gat>Aat	p.D74N		NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 5	74	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-dependent (GO:0002485)|antigen processing and presentation of endogenous peptide antigen via MHC class Ib via ER pathway, TAP-dependent (GO:0002489)|antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent (GO:0002481)|cell differentiation (GO:0030154)|compound eye corneal lens development (GO:0048058)|positive regulation of antigen processing and presentation of peptide antigen via MHC class I (GO:0002591)|regulation of membrane potential (GO:0042391)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|efflux transmembrane transporter activity (GO:0015562)			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						AGAAATGAGTGATAACCTTAT	0.393																																						ENST00000404938.2																			0				breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						c.(220-222)Gat>Aat		ATP-binding cassette, sub-family B (MDR/TAP), member 5							149	127	134					7																	20668422		1568	3582	5150	SO:0001583	missense	340273				regulation of membrane potential	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus	ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity	g.chr7:20668422G>A	U66692	CCDS5371.1, CCDS55090.1, CCDS55091.1, CCDS55092.1	7p14	2012-03-14			ENSG00000004846	ENSG00000004846		"ATP binding cassette transporters / subfamily B"	46	protein-coding gene	gene with protein product	"P-glycoprotein ABCB5", "ATP-binding cassette protein"	611785				8894702, 12960149	Standard	NM_001163942		Approved	EST422562, ABCB5beta, ABCB5alpha	uc010kuh.3	Q2M3G0	OTTHUMG00000094789	ENST00000404938.2:c.220G>A	7.37:g.20668422G>A	ENSP00000384881:p.Asp74Asn						p.D74N	NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN			4	872	+			271			ABC transporter 1.		A4D131|A7BKA4|B5MD19|B7WPL1|F8QQP8|F8QQP9|J3KQ04|Q2M3I5|Q5I5Q7|Q5I5Q8|Q6KG50|Q6XFQ5|Q8IXA1	Missense_Mutation	SNP	ENST00000404938.2	37	c.220G>A	CCDS55090.1	.	.	.	.	.	.	.	.	.	.	G	16.72	3.200927	0.58234	.	.	ENSG00000004846	ENST00000404938	D	0.84516	-1.86	4.29	4.29	0.51040	.	.	.	.	.	T	0.75568	0.3867	N	0.21373	0.66	0.80722	D	1	P	0.35894	0.526	B	0.38616	0.277	T	0.71224	-0.4656	9	0.13470	T	0.59	.	12.9824	0.58572	0.0:0.0:1.0:0.0	.	74	A7BKA4	.	N	74	ENSP00000384881:D74N	ENSP00000384881:D74N	D	+	1	0	ABCB5	20634947	1.000000	0.71417	0.998000	0.56505	0.993000	0.82548	3.069000	0.50026	2.333000	0.79357	0.460000	0.39030	GAT		0.393	ABCB5-004	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000326736.2	NM_178559		4	16	0	0	0	1	0	4	16					A	20668422	G	A	20668422	3	1	286	1	0	0	0	0	1	0	0	0	44	1290	45	3	230	3	ABCB5	7	20668422	Missense_Mutation	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	249633	20668422	138470241	256	13386											
KLHL7	55975	broad.mit.edu	37	chr7	23207467	23207468	+	Frame_Shift_Del	DEL	TG	TG	-																															ttttacaggaaactcagctcTgtatttatttgagtgctatg																										TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr7:23207467_23207468delTG	ENST00000339077.5	+	9	1433_1434	c.1190_1191delTG	c.(1189-1191)ctgfs	p.L397fs	KLHL7_ENST00000539124.1_Frame_Shift_Del_p.L321fs|KLHL7_ENST00000322231.7_Frame_Shift_Del_p.L375fs|KLHL7_ENST00000409689.1_Frame_Shift_Del_p.L349fs|KLHL7_ENST00000542558.1_Frame_Shift_Del_p.L172fs|KLHL7_ENST00000545443.1_Frame_Shift_Del_p.L375fs	NM_001031710.2	NP_001026880.2	Q8IXQ5	KLHL7_HUMAN	kelch-like family member 7	397					protein ubiquitination (GO:0016567)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						AACTCAGCTCTGTATTTATTTG	0.465																																						ENST00000322231.7																			0				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						c.(1123-1125)cfs		kelch-like family member 7																																				SO:0001589	frameshift_variant	55975					Golgi apparatus|nucleolus|plasma membrane		g.chr7:23207467_23207468delTG		CCDS5378.1, CCDS34609.1, CCDS5378.2, CCDS55095.1	7p15.3	2013-01-30	2013-01-30		ENSG00000122550	ENSG00000122550		"Kelch-like", "BTB/POZ domain containing"	15646	protein-coding gene	gene with protein product	"retinitis pigmentosa 42"	611119	"kelch-like 7 (Drosophila)"			19520207	Standard	NM_001031710		Approved	KLHL6, SBBI26, RP42	uc003svs.4	Q8IXQ5	OTTHUMG00000094813	ENST00000339077.5:c.1190_1191delTG	7.37:g.23207467_23207468delTG	ENSP00000343273:p.Leu397fs					KLHL7_ENST00000339077.4_Frame_Shift_Del_p.L397fs|KLHL7_ENST00000542558.1_Frame_Shift_Del_p.L172fs|KLHL7_ENST00000539124.1_Frame_Shift_Del_p.L321fs|KLHL7_ENST00000545443.1_Frame_Shift_Del_p.L375fs|KLHL7_ENST00000409689.1_Frame_Shift_Del_p.L349fs	p.L375fs			Q8IXQ5	KLHL7_HUMAN			10	1614_1615	+			397					A4D144|B7Z5I9|G5E9G3|Q7Z765|Q96MV2|Q9BQF8|Q9UDQ9	Frame_Shift_Del	DEL	ENST00000339077.5	37	c.1124_1125delTG	CCDS34609.1																																																																																				0.465	KLHL7-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326860.3	NM_018846		7	36						7	36	---	---	---	---	-	23207468	TG	-	23207467	7	5	286	1	0	1	0	1	0	0	0	0	8394	1580	55	0	1287	0	KLHL7	7	23207467	Frame_Shift_Del	DEL	TG	TCGA-J9-A52C-01A-11D-A26M-08	2539045	23207467	135931196	257	13387											
GGCT	79017	broad.mit.edu	37	chr7	30538451	30538451	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tggggatgggggagcactttCgtaatttgtcatcagataac	10	12	13	6	1	2	1	2	0	0	1	3	3	2	3	0	4	2	2	0	4	2	4			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr7:30538451C>T	ENST00000275428.4	-	3	525	c.391G>A	c.(391-393)Gaa>Aaa	p.E131K	GGCT_ENST00000409436.1_Missense_Mutation_p.E131K|GGCT_ENST00000598361.1_Missense_Mutation_p.E46K|GGCT_ENST00000005374.6_Intron|GGCT_ENST00000409144.1_Intron|GGCT_ENST00000409390.1_Intron	NM_024051.3	NP_076956.1	O75223	GGCT_HUMAN	gamma-glutamylcyclotransferase	131					glutathione biosynthetic process (GO:0006750)|glutathione derivative biosynthetic process (GO:1901687)|release of cytochrome c from mitochondria (GO:0001836)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	gamma-glutamylcyclotransferase activity (GO:0003839)|protein homodimerization activity (GO:0042803)			endometrium(2)|kidney(1)|large_intestine(2)|lung(3)	8						GGAGCACTTTCGTAATTTGTC	0.343																																						ENST00000275428.4																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(3)	8						c.(391-393)Gaa>Aaa		gamma-glutamylcyclotransferase							154	145	148					7																	30538451		2203	4300	6503	SO:0001583	missense	79017				release of cytochrome c from mitochondria	cytosol	acyltransferase activity|gamma-glutamylcyclotransferase activity|protein homodimerization activity	g.chr7:30538451C>T	BC019243	CCDS5428.1, CCDS56474.1, CCDS56475.1, CCDS56476.1	7p15-p14	2010-04-23	2010-04-23	2008-08-04	ENSG00000006625	ENSG00000006625	2.3.2.4		21705	protein-coding gene	gene with protein product		137170	"chromosome 7 open reading frame 24"	C7orf24, GCTG		17932939, 18515354	Standard	NM_024051		Approved	MGC3077, CRF21, Ggc	uc003tba.3	O75223	OTTHUMG00000128593	ENST00000275428.4:c.391G>A	7.37:g.30538451C>T	ENSP00000275428:p.Glu131Lys					GGCT_ENST00000409436.1_Missense_Mutation_p.E131K|GGCT_ENST00000598361.1_Missense_Mutation_p.E46K|GGCT_ENST00000409390.1_Intron|GGCT_ENST00000005374.6_Intron|GGCT_ENST00000409144.1_Intron	p.E131K	NM_024051.3	NP_076956.1	O75223	GGCT_HUMAN			3	525	-			131					B2RDN0|B8ZZN4|B8ZZR8|Q9BS37	Missense_Mutation	SNP	ENST00000275428.4	37	c.391G>A	CCDS5428.1	.	.	.	.	.	.	.	.	.	.	C	5.078	0.200076	0.09652	.	.	ENSG00000006625	ENST00000275428;ENST00000497601;ENST00000409436	.	.	.	5.55	3.74	0.42951	Butirosin biosynthesis, BtrG-like (1);	0.545165	0.19272	N	0.118371	T	0.41719	0.1171	L	0.41236	1.265	0.58432	D	0.999999	B;B	0.24043	0.096;0.037	B;B	0.17979	0.02;0.013	T	0.12656	-1.0539	9	0.13108	T	0.6	-5.4702	7.2384	0.26082	0.0:0.7121:0.1405:0.1474	.	131;70	O75223;E7EU55	GGCT_HUMAN;.	K	131;70;131	.	ENSP00000275428:E131K	E	-	1	0	GGCT	30504976	0.554000	0.26522	0.332000	0.25469	0.725000	0.41563	1.258000	0.32944	0.817000	0.34445	-0.145000	0.13849	GAA		0.343	GGCT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250447.2	NM_024051		12	53	0	0	0	1	0	12	53					T	30538451	C	T	30538451	3	4	286	1	0	0	0	0	1	0	0	0	6355	893	31	2	183	2	GGCT	7	30538451	Missense_Mutation	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	7330984	30538451	128600212	258	13388											
ELMO1	9844	broad.mit.edu	37	chr7	36927225	36927225	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttccacaaggcggttcaggcGttgctgtttgatcagctcta	7	13	11	10	2	3	1	2	1	1	0	4	1	4	1	1	3	2	5	1	3	2	5			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr7:36927225G>A	ENST00000310758.4	-	18	2301	c.1654C>T	c.(1654-1656)Cgc>Tgc	p.R552C	ELMO1_ENST00000341056.3_Missense_Mutation_p.R254C|ELMO1_ENST00000442504.1_Missense_Mutation_p.R552C|ELMO1_ENST00000396040.2_Missense_Mutation_p.R72C|ELMO1_ENST00000448602.1_Missense_Mutation_p.R552C|ELMO1_ENST00000396045.3_Missense_Mutation_p.R72C	NM_001206480.1|NM_014800.10	NP_001193409.1|NP_055615.8	Q92556	ELMO1_HUMAN	engulfment and cell motility 1	552					actin cytoskeleton organization (GO:0030036)|apoptotic process (GO:0006915)|cellular component movement (GO:0006928)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|phagocytosis, engulfment (GO:0006911)|Rac protein signal transduction (GO:0016601)|regulation of defense response to virus by virus (GO:0050690)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	SH3 domain binding (GO:0017124)	p.R552S(1)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(28)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	58						CGGTTCAGGCGTTGCTGTTTG	0.473																																						ENST00000310758.4																			1	Substitution - Missense(1)	p.R552S(1)	lung(1)	breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(28)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	58						c.(1654-1656)Cgc>Tgc		engulfment and cell motility 1							165	148	154					7																	36927225		2203	4300	6503	SO:0001583	missense	9844				actin cytoskeleton organization|apoptosis|cellular component movement|phagocytosis, engulfment|Rac protein signal transduction|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|plasma membrane	SH3 domain binding	g.chr7:36927225G>A	AF398885	CCDS5449.1, CCDS5450.1	7p14.1	2012-07-10	2006-01-20		ENSG00000155849	ENSG00000155849		"Engulfment and cell motility proteins"	16286	protein-coding gene	gene with protein product		606420	"engulfment and cell motility 1 (ced-12 homolog, C. elegans)"			11595183	Standard	NM_001039459		Approved	KIAA0281, CED12, ELMO-1, CED-12	uc003tfk.2	Q92556	OTTHUMG00000023701	ENST00000310758.4:c.1654C>T	7.37:g.36927225G>A	ENSP00000312185:p.Arg552Cys					ELMO1_ENST00000448602.1_Missense_Mutation_p.R552C|ELMO1_ENST00000396040.2_Missense_Mutation_p.R72C|ELMO1_ENST00000341056.3_Missense_Mutation_p.R254C|ELMO1_ENST00000396045.3_Missense_Mutation_p.R72C|ELMO1_ENST00000442504.1_Missense_Mutation_p.R552C	p.R552C	NM_001206480.1|NM_014800.10	NP_001193409.1|NP_055615.8	Q92556	ELMO1_HUMAN			18	2301	-			552					A4D1X6|Q29R79|Q6ZTJ0|Q96PB0|Q9H0I1	Missense_Mutation	SNP	ENST00000310758.4	37	c.1654C>T	CCDS5449.1	.	.	.	.	.	.	.	.	.	.	G	26.3	4.722158	0.89298	.	.	ENSG00000155849	ENST00000341056;ENST00000396045;ENST00000310758;ENST00000361912;ENST00000396040;ENST00000442504;ENST00000448602	T;T;T;T;T;T	0.55760	0.5;0.5;0.5;0.5;0.5;0.5	5.97	5.97	0.96955	Pleckstrin homology-type (1);	0.000000	0.85682	D	0.000000	T	0.78521	0.4296	M	0.86864	2.845	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.80690	-0.1270	10	0.87932	D	0	.	20.4238	0.99064	0.0:0.0:1.0:0.0	.	552	Q92556	ELMO1_HUMAN	C	254;72;552;456;72;552;552	ENSP00000342142:R254C;ENSP00000379360:R72C;ENSP00000312185:R552C;ENSP00000379355:R72C;ENSP00000406952:R552C;ENSP00000394458:R552C	ENSP00000312185:R552C	R	-	1	0	ELMO1	36893750	1.000000	0.71417	0.985000	0.45067	0.995000	0.86356	4.280000	0.58959	2.828000	0.97474	0.655000	0.94253	CGC		0.473	ELMO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219830.4	NM_130442		6	46	0	0	0	1	0	6	46					A	36927225	G	A	36927225	3	1	286	1	0	0	0	0	1	0	0	0	5065	1145	40	1	549	1	ELMO1	7	36927225	Missense_Mutation	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	6388774	36927225	122211438	259	13389											
PKD1L1	168507	broad.mit.edu	37	chr7	47933631	47933631	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggcccacacagtagttgctgTacaccacactgccttcaatc	10	9	7	15	0	1	0	1	0	0	0	2	0	1	0	3	1	3	4	3	1	3	4			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr7:47933631T>C	ENST00000289672.2	-	15	2347	c.2297A>G	c.(2296-2298)tAc>tGc	p.Y766C		NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	766	REJ. {ECO:0000255|PROSITE- ProRule:PRU00511}.				detection of mechanical stimulus (GO:0050982)|detection of nodal flow (GO:0003127)|left/right axis specification (GO:0070986)|single organismal cell-cell adhesion (GO:0016337)	calcium channel complex (GO:0034704)|cilium (GO:0005929)|membrane (GO:0016020)|nonmotile primary cilium (GO:0031513)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)		BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						GTAGTTGCTGTACACCACACT	0.582																																						ENST00000289672.2																		BBS9/PKD1L1(2)	0				NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						c.(2296-2298)tAc>tGc		polycystic kidney disease 1 like 1							90	68	76					7																	47933631		2203	4300	6503	SO:0001583	missense	168507				cell-cell adhesion	integral to membrane		g.chr7:47933631T>C	AB061683	CCDS34633.1	7p12.3	2008-07-18			ENSG00000158683	ENSG00000158683			18053	protein-coding gene	gene with protein product	"polycystin-1L1"	609721				11863367	Standard	NM_138295		Approved	PRO19563	uc003tny.2	Q8TDX9	OTTHUMG00000155649	ENST00000289672.2:c.2297A>G	7.37:g.47933631T>C	ENSP00000289672:p.Tyr766Cys						p.Y766C	NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN			15	2347	-			766			REJ.		Q6UWK1	Missense_Mutation	SNP	ENST00000289672.2	37	c.2297A>G	CCDS34633.1	.	.	.	.	.	.	.	.	.	.	t	14.13	2.442637	0.43326	.	.	ENSG00000158683	ENST00000289672	T	0.69685	-0.42	5.23	4.06	0.47325	Egg jelly receptor, REJ-like (1);PKD/REJ-like protein (1);	0.843175	0.10239	N	0.698708	T	0.74589	0.3736	L	0.42245	1.32	0.24399	N	0.994719	D	0.89917	1.0	D	0.68943	0.961	T	0.61168	-0.7117	10	0.51188	T	0.08	-4.3584	10.5539	0.45105	0.0:0.0:0.1625:0.8375	.	766	Q8TDX9	PK1L1_HUMAN	C	766	ENSP00000289672:Y766C	ENSP00000289672:Y766C	Y	-	2	0	PKD1L1	47900156	0.997000	0.39634	0.016000	0.15963	0.406000	0.30931	3.531000	0.53546	0.824000	0.34613	0.444000	0.29173	TAC		0.582	PKD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340974.1	NM_138295		18	48	0	0	0	1	0	18	48					C	47933631	T	C	47933631	3	2	286	1	0	0	0	0	1	0	0	0	11964	1638	57	4	6424	4	PKD1L1	7	47933631	Missense_Mutation	SNP	T	TCGA-J9-A52C-01A-11D-A26M-08	11006406	47933631	111205032	260	13390											
PKD1L1	168507	broad.mit.edu	37	chr7	47955075	47955075	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatccaaggttactggggtcTgagtcttccaggcagctgtt	7	13	12	9	0	2	1	0	1	2	0	4	1	4	1	2	4	2	4	2	4	3	4			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr7:47955075T>C	ENST00000289672.2	-	8	1232	c.1182A>G	c.(1180-1182)tcA>tcG	p.S394S		NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	394					detection of mechanical stimulus (GO:0050982)|detection of nodal flow (GO:0003127)|left/right axis specification (GO:0070986)|single organismal cell-cell adhesion (GO:0016337)	calcium channel complex (GO:0034704)|cilium (GO:0005929)|membrane (GO:0016020)|nonmotile primary cilium (GO:0031513)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)		BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						tactggggtctgagtcttcca	0.398																																						ENST00000289672.2																		BBS9/PKD1L1(2)	0				NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						c.(1180-1182)tcA>tcG		polycystic kidney disease 1 like 1							113	106	108					7																	47955075		2203	4300	6503	SO:0001819	synonymous_variant	168507				cell-cell adhesion	integral to membrane		g.chr7:47955075T>C	AB061683	CCDS34633.1	7p12.3	2008-07-18			ENSG00000158683	ENSG00000158683			18053	protein-coding gene	gene with protein product	"polycystin-1L1"	609721				11863367	Standard	NM_138295		Approved	PRO19563	uc003tny.2	Q8TDX9	OTTHUMG00000155649	ENST00000289672.2:c.1182A>G	7.37:g.47955075T>C							p.S394S	NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN			8	1232	-			394					Q6UWK1	Silent	SNP	ENST00000289672.2	37	c.1182A>G	CCDS34633.1																																																																																				0.398	PKD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340974.1	NM_138295		12	48	0	0	0	1	0	12	48					C	47955075	T	C	47955075	2	2	286	1	0	0	0	0	0	0	0	1	11964	1567	55	4		4	PKD1L1	7	47955075	Silent	SNP	T	TCGA-J9-A52C-01A-11D-A26M-08	21444	47955075	111183588	261	13391											
ABCA13	154664	broad.mit.edu	37	chr7	48506591	48506591	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggacctcacccgtgtgcttcTgcggaagtttagagatcaag	9	10	12	10	2	3	1	2	0	1	1	3	4	3	3	2	2	2	2	2	2	3	3			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr7:48506591T>G	ENST00000435803.1	+	44	12878	c.12854T>G	c.(12853-12855)cTg>cGg	p.L4285R	ABCA13_ENST00000544596.1_Intron	NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	4285					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						CGTGTGCTTCTGCGGAAGTTT	0.478																																						ENST00000435803.1																			0				breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						c.(12853-12855)cTg>cGg		ATP-binding cassette, sub-family A (ABC1), member 13							125	132	129					7																	48506591		2025	4191	6216	SO:0001583	missense	154664				transport	integral to membrane	ATP binding|ATPase activity	g.chr7:48506591T>G	AY204751	CCDS47584.1	7p12.3	2012-03-14			ENSG00000179869	ENSG00000179869		"ATP binding cassette transporters / subfamily A"	14638	protein-coding gene	gene with protein product		607807				12697998	Standard	NM_152701		Approved	FLJ33876, FLJ33951	uc003toq.2	Q86UQ4	OTTHUMG00000155840	ENST00000435803.1:c.12854T>G	7.37:g.48506591T>G	ENSP00000411096:p.Leu4285Arg					ABCA13_ENST00000544596.1_Intron	p.L4285R	NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN			44	12878	+			4285					K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Missense_Mutation	SNP	ENST00000435803.1	37	c.12854T>G	CCDS47584.1	.	.	.	.	.	.	.	.	.	.	T	12.44	1.939062	0.34189	.	.	ENSG00000179869	ENST00000435803	D	0.87412	-2.25	5.29	5.29	0.74685	.	0.000000	0.35646	N	0.003063	D	0.93141	0.7816	M	0.82630	2.6	0.49915	D	0.999831	D;D	0.89917	0.999;1.0	D;D	0.85130	0.974;0.997	D	0.93691	0.7007	10	0.66056	D	0.02	.	11.8987	0.52671	0.0:0.0:0.0:1.0	.	1987;4285	Q86UQ4-3;Q86UQ4	.;ABCAD_HUMAN	R	4285	ENSP00000411096:L4285R	ENSP00000411096:L4285R	L	+	2	0	ABCA13	48477137	0.302000	0.24454	0.009000	0.14445	0.024000	0.10985	3.441000	0.52893	2.132000	0.65825	0.533000	0.62120	CTG		0.478	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341964.2	NM_152701		22	104	0	0	0	1	0	22	104					G	48506591	T	G	48506591	3	3	286	1	0	0	0	0	1	0	0	0	31	1580	55	5	12857	5	ABCA13	7	48506591	Missense_Mutation	SNP	T	TCGA-J9-A52C-01A-11D-A26M-08	551516	48506591	110632072	262	13392											
COBL	23242	broad.mit.edu	37	chr7	51095820	51095820	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttccactgaaaccacagctCtgtcccacagaaacacgatc	13	8	5	15	1	1	2	0	1	1	1	4	3	3	2	3	0	3	1	3	0	2	1			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr7:51095820C>A	ENST00000265136.7	-	10	3138	c.2973G>T	c.(2971-2973)caG>caT	p.Q991H	COBL_ENST00000395542.2_Missense_Mutation_p.Q1073H	NM_015198.3	NP_056013.2	O75128	COBL_HUMAN	cordon-bleu WH2 repeat protein	991					actin filament network formation (GO:0051639)|actin filament polymerization (GO:0030041)|collateral sprouting in absence of injury (GO:0048669)|digestive tract development (GO:0048565)|embryonic axis specification (GO:0000578)|floor plate development (GO:0033504)|liver development (GO:0001889)|neural tube closure (GO:0001843)|notochord development (GO:0030903)|positive regulation of dendrite development (GO:1900006)|somite specification (GO:0001757)	actin filament (GO:0005884)|axon (GO:0030424)|axonal growth cone (GO:0044295)|cell cortex (GO:0005938)|dendrite (GO:0030425)|dendritic growth cone (GO:0044294)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	actin monomer binding (GO:0003785)			NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Glioma(55;0.08)					AACCACAGCTCTGTCCCACAG	0.552																																					NSCLC(189;2119 2138 12223 30818 34679)	ENST00000395542.2																			0				NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	65						c.(3217-3219)caG>caT		cordon-bleu WH2 repeat protein							71	65	67					7																	51095820		2203	4300	6503	SO:0001583	missense	23242							g.chr7:51095820C>A	AB014533	CCDS34637.1, CCDS75601.1, CCDS75602.1	7p12.2-p12.1	2012-12-07	2012-12-07		ENSG00000106078	ENSG00000106078			22199	protein-coding gene	gene with protein product		610317	"cordon-bleu homolog (mouse)"				Standard	NM_015198		Approved	KIAA0633	uc003tpr.4	O75128	OTTHUMG00000155999	ENST00000265136.7:c.2973G>T	7.37:g.51095820C>A	ENSP00000265136:p.Gln991His					COBL_ENST00000265136.7_Missense_Mutation_p.Q991H	p.Q1073H			O75128	COBL_HUMAN			12	3403	-	Glioma(55;0.08)		991					A4D257|A7E2B0|B7ZLW9|B9EGF8|Q2T9J3|Q504Y4|Q86XA7|Q8N304|Q8TCM1	Missense_Mutation	SNP	ENST00000265136.7	37	c.3219G>T	CCDS34637.1	.	.	.	.	.	.	.	.	.	.	C	16.98	3.272122	0.59649	.	.	ENSG00000106078	ENST00000265136;ENST00000445054;ENST00000431948;ENST00000395542	T;T;T;T	0.13307	2.61;2.61;2.6;2.6	4.88	-0.493	0.12038	.	0.367805	0.20050	N	0.100332	T	0.16471	0.0396	L	0.32530	0.975	0.09310	N	1	B;B;D;D;D	0.76494	0.396;0.133;0.976;0.969;0.999	B;B;P;P;D	0.65443	0.105;0.105;0.556;0.655;0.935	T	0.09907	-1.0653	10	0.56958	D	0.05	.	1.9655	0.03395	0.1363:0.4144:0.1202:0.329	.	991;1048;991;1073;533	O75128-3;O75128-7;O75128;O75128-2;O75128-6	.;.;COBL_HUMAN;.;.	H	991;883;876;1073	ENSP00000265136:Q991H;ENSP00000401204:Q883H;ENSP00000413498:Q876H;ENSP00000378912:Q1073H	ENSP00000265136:Q991H	Q	-	3	2	COBL	51063314	0.000000	0.05858	0.000000	0.03702	0.520000	0.34377	-0.710000	0.05024	0.004000	0.14682	-0.471000	0.05019	CAG		0.552	COBL-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000342682.1	NM_015198		10	50	1	0	1.08611e-07	1	1.10743e-07	10	50					A	51095820	C	A	51095820	3	1	286	1	0	0	0	0	1	0	0	0	3653	912	32	5	828	5	COBL	7	51095820	Missense_Mutation	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	2589229	51095820	108042843	263	13393											
ASL	435	broad.mit.edu	37	chr7	65553837	65553837	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctgtgcatgacccatctcagCaggatggccgaggacctcat	9	8	11	13	1	2	1	2	1	1	0	3	4	2	3	3	3	2	2	3	3	0	0			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr7:65553837C>T	ENST00000304874.9	+	11	864	c.762C>T	c.(760-762)agC>agT	p.S254S	ASL_ENST00000380839.4_Silent_p.S228S|ASL_ENST00000395332.3_Silent_p.S254S|ASL_ENST00000395331.3_Silent_p.S254S|AC068533.7_ENST00000450043.1_Nonsense_Mutation_p.Q23*	NM_000048.3	NP_000039.2	P04424	ARLY_HUMAN	argininosuccinate lyase	254					arginine biosynthetic process via ornithine (GO:0042450)|arginine catabolic process (GO:0006527)|cellular nitrogen compound metabolic process (GO:0034641)|internal protein amino acid acetylation (GO:0006475)|small molecule metabolic process (GO:0044281)|urea cycle (GO:0000050)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	argininosuccinate lyase activity (GO:0004056)			breast(3)|endometrium(3)|large_intestine(2)|lung(9)|upper_aerodigestive_tract(1)	18					L-Arginine(DB00125)	CCCATCTCAGCAGGATGGCCG	0.582																																						ENST00000450043.1																			0						GRCh37	CM022319	ASL	M		c.(67-69)Cag>Tag									93	70	78					7																	65553837		2203	4300	6503	SO:0001819	synonymous_variant	0							g.chr7:65553837C>T		CCDS5531.1, CCDS47597.1, CCDS47598.1	7q11.21	2012-10-02			ENSG00000126522	ENSG00000126522	4.3.2.1		746	protein-coding gene	gene with protein product		608310					Standard	NM_001024943		Approved		uc003tuo.3	P04424	OTTHUMG00000022876	ENST00000304874.9:c.762C>T	7.37:g.65553837C>T						ASL_ENST00000395332.3_Silent_p.S254S|ASL_ENST00000395331.3_Silent_p.S254S|ASL_ENST00000304874.9_Silent_p.S254S|ASL_ENST00000380839.4_Silent_p.S228S	p.Q23*							2	67	+								E7EMI0|E9PE48|Q6LDS5|Q96HS2	Nonsense_Mutation	SNP	ENST00000304874.9	37	c.67C>T	CCDS5531.1	.	.	.	.	.	.	.	.	.	.	c	10.84	1.465067	0.26335	.	.	ENSG00000249319	ENST00000450043	.	.	.	5.82	4.93	0.64822	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.6925	0.45879	0.0:0.8544:0.0:0.1456	.	.	.	.	X	23	.	.	Q	+	1	0	AC068533.7	65191272	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	1.998000	0.40796	2.756000	0.94617	0.561000	0.74099	CAG		0.582	ASL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251695.2	NM_000048		9	24	0	0	0	1	0	9	24					T	65553837	C	T	65553837	2	4	286	1	0	0	0	0	0	0	0	1	1044	709	25	3		3	ASL	7	65553837	Silent	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	14458017	65553837	93584826	264	13394											
FKBP6	8468	broad.mit.edu	37	chr7	72744195	72744195	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gctgggccttctgagcatgcGgagaggagagctggccaggt	7	7	18	9	1	1	3	0	1	1	2	1	5	1	3	2	5	3	3	2	5	0	1	rs3950376		TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr7:72744195G>A	ENST00000252037.4	+	4	377	c.308G>A	c.(307-309)cGg>cAg	p.R103Q	TRIM50_ENST00000493498.1_5'Flank|FKBP6_ENST00000431982.2_Missense_Mutation_p.R98Q|FKBP6_ENST00000413573.2_Missense_Mutation_p.R73Q|TRIM50_ENST00000333149.2_5'Flank	NM_003602.3	NP_003593.3	O75344	FKBP6_HUMAN	FK506 binding protein 6, 36kDa	103	PPIase FKBP-type. {ECO:0000255|PROSITE- ProRule:PRU00277}.			R -> Q (in Ref. 2; AAP97324). {ECO:0000305}.	cell differentiation (GO:0030154)|chaperone-mediated protein folding (GO:0061077)|DNA methylation involved in gamete generation (GO:0043046)|gene silencing by RNA (GO:0031047)|meiotic nuclear division (GO:0007126)|piRNA metabolic process (GO:0034587)|protein folding (GO:0006457)|protein peptidyl-prolyl isomerization (GO:0000413)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|synaptonemal complex (GO:0000795)	FK506 binding (GO:0005528)|Hsp90 protein binding (GO:0051879)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)	p.R103Q(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)	16		Lung NSC(55;0.0908)|all_lung(88;0.198)				CTGAGCATGCGGAGAGGAGAG	0.537																																						ENST00000252037.4																			1	Substitution - Missense(1)	p.R103Q(1)	lung(1)	central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)	16						c.(307-309)cGg>cAg		FK506 binding protein 6, 36kDa							131	112	118					7																	72744195		2203	4300	6503	SO:0001583	missense	8468				protein folding	membrane	FK506 binding|peptidyl-prolyl cis-trans isomerase activity	g.chr7:72744195G>A	AF038847	CCDS43595.1, CCDS47604.1, CCDS64670.1	7q11.23	2009-01-05	2002-08-29		ENSG00000077800	ENSG00000077800			3722	protein-coding gene	gene with protein product	"FK506 binding protein 6 (36kD)", "peptidylprolyl cis-trans isomerase", "rotamase", "immunophilin FKBP36"	604839	"FK506-binding protein 6 (36kD)"			9782077, 19001379	Standard	NM_003602		Approved	PPIase, FKBP36	uc003tya.2	O75344	OTTHUMG00000150520	ENST00000252037.4:c.308G>A	7.37:g.72744195G>A	ENSP00000252037:p.Arg103Gln					FKBP6_ENST00000431982.2_Missense_Mutation_p.R98Q|FKBP6_ENST00000413573.2_Missense_Mutation_p.R73Q	p.R103Q	NM_003602.3	NP_003593.3	O75344	FKBP6_HUMAN			4	377	+		Lung NSC(55;0.0908)|all_lung(88;0.198)	103			PPIase FKBP-type.		B4DXT7|G3V0I2|Q7Z4T4|Q9UDS0	Missense_Mutation	SNP	ENST00000252037.4	37	c.308G>A	CCDS43595.1	.	.	.	.	.	.	.	.	.	.	G	14.45	2.538247	0.45176	.	.	ENSG00000077800	ENST00000431982;ENST00000442793;ENST00000413573;ENST00000252037	D;D;D;D	0.85556	-2.0;-2.0;-2.0;-2.0	4.52	4.52	0.55395	Peptidyl-prolyl cis-trans isomerase, FKBP-type, domain (2);	0.229081	0.39985	N	0.001216	T	0.64702	0.2622	N	0.12502	0.225	0.36640	D	0.876817	B;B	0.33073	0.396;0.023	B;B	0.16289	0.009;0.015	T	0.66512	-0.5905	10	0.19147	T	0.46	-20.1574	7.1478	0.25593	0.1919:0.0:0.8081:0.0	rs3950376	98;103	O75344-2;O75344	.;FKBP6_HUMAN	Q	98;98;73;103	ENSP00000416277:R98Q;ENSP00000402360:R98Q;ENSP00000394952:R73Q;ENSP00000252037:R103Q	ENSP00000252037:R103Q	R	+	2	0	FKBP6	72382131	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	2.794000	0.47853	2.101000	0.63845	0.485000	0.47835	CGG		0.537	FKBP6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318723.1	NM_003602		9	34	0	0	0	1	0	9	34					A	72744195	G	A	72744195	3	1	286	1	0	0	0	0	1	0	0	0	5912	1116	39	2	368	2	FKBP6	7	72744195	Missense_Mutation	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	7190358	72744195	86394468	265	13395											
POM121C	100101267	broad.mit.edu	37	chr7	75053837	75053837	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tcctccaaggcctggttgaaCcactgtaatgaagccttctt	9	12	8	12	0	1	2	0	2	1	0	3	2	3	2	5	2	2	2	5	2	4	4			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr7:75053837C>T	ENST00000257665.5	-	9	1568	c.1569G>A	c.(1567-1569)tgG>tgA	p.W523*	POM121C_ENST00000453279.2_Nonsense_Mutation_p.W281*|POM121C_ENST00000473168.1_5'UTR			A8CG34	P121C_HUMAN	POM121 transmembrane nucleoporin C	523	Pore side. {ECO:0000255}.				mRNA transport (GO:0051028)|protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|nuclear pore (GO:0005643)				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	14						CCTGGTTGAACCACTGTAATG	0.468																																						ENST00000453279.2																			0				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	14						c.(841-843)tgG>tgA		POM121 transmembrane nucleoporin C							120	125	123					7																	75053837		2203	4300	6503	SO:0001587	stop_gained	100101267				mRNA transport|protein transport|transmembrane transport	endoplasmic reticulum membrane|nuclear membrane|nuclear pore	protein binding	g.chr7:75053837C>T		CCDS47617.1	7q11.23	2012-03-13	2012-03-13		ENSG00000135213	ENSG00000272391			34005	protein-coding gene	gene with protein product		615754	"POM121 membrane glycoprotein C"			17900573	Standard	NM_001099415		Approved		uc003udk.4	A8CG34	OTTHUMG00000156238	ENST00000257665.5:c.1569G>A	7.37:g.75053837C>T	ENSP00000257665:p.Trp523*					POM121C_ENST00000473168.1_5'UTR|POM121C_ENST00000257665.5_Nonsense_Mutation_p.W523*	p.W281*	NM_001099415.1	NP_001092885.1	A8CG34	P121C_HUMAN			11	1707	-			523			Pore side (Potential).|Required for targeting to the nucleus and nuclear pore complex.		O75115|Q9Y2N3|Q9Y4S7	Nonsense_Mutation	SNP	ENST00000257665.5	37	c.843G>A		.	.	.	.	.	.	.	.	.	.	C	43	10.016857	0.99318	.	.	ENSG00000135213	ENST00000257665;ENST00000453279	.	.	.	3.39	3.39	0.38822	.	0.000000	0.35124	N	0.003433	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.2837	0.54779	0.0:1.0:0.0:0.0	.	.	.	.	X	523;281	.	ENSP00000257665:W523X	W	-	3	0	POM121C	74891773	1.000000	0.71417	0.990000	0.47175	0.318000	0.28184	2.234000	0.43035	1.609000	0.50190	0.195000	0.17529	TGG		0.468	POM121C-003	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000343919.2	NM_001099415		10	92	0	0	0	1	0	10	92					T	75053837	C	T	75053837	4	4	286	1	0	0	0	0	0	1	0	0	12240	508	18	3	2140	3	POM121C	7	75053837	Nonsense_Mutation	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	2309642	75053837	84084826	266	13396											
UPK3B	80761	broad.mit.edu	37	chr7	76140012	76140014	+	In_Frame_Del	DEL	CTC	CTC	-																															ctcacctagggctgcagatgCtcctcctggcgttgaactgt																										TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr7:76140012_76140014delCTC	ENST00000257632.5	+	1	171_173	c.43_45delCTC	c.(43-45)ctcdel	p.L17del	UPK3B_ENST00000419923.2_In_Frame_Del_p.L17del|UPK3B_ENST00000334348.3_In_Frame_Del_p.L17del|UPK3B_ENST00000394849.1_In_Frame_Del_p.L17del|UPK3B_ENST00000443097.2_In_Frame_Del_p.L17del|UPK3B_ENST00000448265.3_In_Frame_Del_p.L17del			Q9BT76	UPK3B_HUMAN	uroplakin 3B	17					negative regulation of gene expression (GO:0010629)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(1)|lung(1)|skin(2)	8		Myeloproliferative disorder(862;0.204)				GCTGCAGATGCTCCTCCTGGCGT	0.695																																						ENST00000419923.2																			0				breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(1)|lung(1)|skin(2)	8						c.(43-45)del		uroplakin 3B																																				SO:0001651	inframe_deletion	80761				negative regulation of gene expression	integral to membrane|plasma membrane		g.chr7:76140012_76140014delCTC	BC004304	CCDS5588.1, CCDS5589.1, CCDS64693.1	7q11.2	2003-07-29			ENSG00000243566	ENSG00000243566			21444	protein-coding gene	gene with protein product	"uroplakin IIIb"	611887				12446744	Standard	XM_005250612		Approved	MGC10902, p35, UPIIIb, FLJ32198	uc003ufq.3	Q9BT76	OTTHUMG00000149929	ENST00000257632.5:c.43_45delCTC	7.37:g.76140015_76140017delCTC	ENSP00000257632:p.Leu17del					UPK3B_ENST00000394849.1_In_Frame_Del_p.L17del|UPK3B_ENST00000443097.2_In_Frame_Del_p.L17del|UPK3B_ENST00000334348.3_In_Frame_Del_p.L17del|UPK3B_ENST00000257632.5_In_Frame_Del_p.L17del|UPK3B_ENST00000448265.3_In_Frame_Del_p.L17del	p.L17del			Q9BT76	UPK3B_HUMAN			1	268_270	+		Myeloproliferative disorder(862;0.204)	17					A6NHH5|A8K231|A8MZA8|B3KPU5|Q75MM5|Q86W06	In_Frame_Del	DEL	ENST00000257632.5	37	c.43_45delCTC	CCDS5588.1																																																																																				0.695	UPK3B-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000313978.2	NM_030570		13	28						13	28	---	---	---	---	-	76140014	CTC	-	76140012	7	5	286	1	0	1	0	1	0	0	0	0	17008	797	28	0	45	0	UPK3B	7	76140012	In_Frame_Del	DEL	CTC	TCGA-J9-A52C-01A-11D-A26M-08	1086175	76140012	82998651	267	13397											
FZD1	8321	broad.mit.edu	37	chr7	90894692	90894692	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gcagtgttccgctgagctcaAgttcttcctgtgctccatgt	5	14	10	12	1	2	1	1	1	1	0	5	1	5	1	3	0	2	6	3	0	1	3			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr7:90894692A>G	ENST00000287934.2	+	1	910	c.497A>G	c.(496-498)aAg>aGg	p.K166R		NM_003505.1	NP_003496.1	Q9UP38	FZD1_HUMAN	frizzled class receptor 1	166	FZ. {ECO:0000255|PROSITE- ProRule:PRU00090}.				autocrine signaling (GO:0035425)|axonogenesis (GO:0007409)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in mesenchymal stem cell differentiation (GO:0044338)|canonical Wnt signaling pathway involved in osteoblast differentiation (GO:0044339)|cell-cell signaling (GO:0007267)|epithelial cell differentiation (GO:0030855)|G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:0007199)|gonad development (GO:0008406)|hard palate development (GO:0060022)|lung alveolus development (GO:0048286)|membranous septum morphogenesis (GO:0003149)|muscular septum morphogenesis (GO:0003150)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catenin import into nucleus (GO:0035414)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron differentiation (GO:0030182)|outflow tract morphogenesis (GO:0003151)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription, DNA-templated (GO:0045893)|response to drug (GO:0042493)|vasculature development (GO:0001944)|Wnt signaling pathway, calcium modulating pathway (GO:0007223)	apical part of cell (GO:0045177)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|neuron projection membrane (GO:0032589)|plasma membrane (GO:0005886)	frizzled binding (GO:0005109)|G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|receptor binding (GO:0005102)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24	all_cancers(62;3.1e-10)|all_epithelial(64;1.66e-08)|Breast(17;0.000635)|Lung NSC(181;0.153)|all_lung(186;0.154)|all_hematologic(106;0.215)		STAD - Stomach adenocarcinoma(171;0.0134)			GCTGAGCTCAAGTTCTTCCTG	0.657																																						ENST00000287934.2																			0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						c.(496-498)aAg>aGg		frizzled family receptor 1							150	144	146					7																	90894692		2203	4300	6503	SO:0001583	missense	8321				autocrine signaling|axonogenesis|brain development|canonical Wnt receptor signaling pathway involved in mesenchymal stem cell differentiation|canonical Wnt receptor signaling pathway involved in osteoblast differentiation|embryo development|epithelial cell differentiation|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|lung alveolus development|negative regulation of BMP signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to drug|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway	apical part of cell|cell surface|cytoplasm|integral to membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|receptor binding|Wnt receptor activity|Wnt-protein binding	g.chr7:90894692A>G	AB017363	CCDS5620.1	7q21	2014-01-29	2014-01-29		ENSG00000157240	ENSG00000157240		"GPCR / Class F : Frizzled receptors"	4038	protein-coding gene	gene with protein product	"Wnt receptor", "frizzled, Drosophila, homolog of, 1"	603408	"frizzled (Drosophila) homolog 1", "frizzled homolog 1 (Drosophila)", "frizzled 1, seven transmembrane spanning receptor", "frizzled family receptor 1"			9813155	Standard	NM_003505		Approved	DKFZp564G072	uc003ula.3	Q9UP38	OTTHUMG00000023046	ENST00000287934.2:c.497A>G	7.37:g.90894692A>G	ENSP00000287934:p.Lys166Arg						p.K166R	NM_003505.1	NP_003496.1	Q9UP38	FZD1_HUMAN	STAD - Stomach adenocarcinoma(171;0.0134)		1	910	+	all_cancers(62;3.1e-10)|all_epithelial(64;1.66e-08)|Breast(17;0.000635)|Lung NSC(181;0.153)|all_lung(186;0.154)|all_hematologic(106;0.215)		166			FZ.		A4D1E8|O94815|Q549T8	Missense_Mutation	SNP	ENST00000287934.2	37	c.497A>G	CCDS5620.1	.	.	.	.	.	.	.	.	.	.	A	9.168	1.020300	0.19433	.	.	ENSG00000157240	ENST00000287934	T	0.75589	-0.95	4.55	4.55	0.56014	Frizzled domain (5);	0.000000	0.64402	D	0.000002	T	0.55000	0.1893	N	0.12443	0.215	0.53688	D	0.999979	B	0.16166	0.016	B	0.16722	0.016	T	0.51276	-0.8726	10	0.11182	T	0.66	.	14.0469	0.64710	1.0:0.0:0.0:0.0	.	166	Q9UP38	FZD1_HUMAN	R	166	ENSP00000287934:K166R	ENSP00000287934:K166R	K	+	2	0	FZD1	90732628	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	5.089000	0.64492	1.912000	0.55364	0.459000	0.35465	AAG		0.657	FZD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059367.2	NM_003505		25	155	0	0	0	1	0	25	155					G	90894692	A	G	90894692	3	3	286	1	0	0	0	0	1	0	0	0	6128	72	3	4	499	4	FZD1	7	90894692	Missense_Mutation	SNP	A	TCGA-J9-A52C-01A-11D-A26M-08	14754680	90894692	68243971	268	13398											
PEX1	5189	broad.mit.edu	37	chr7	92146659	92146659	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcattgttcaattcttcaagTccattccagactacttgtag	10	15	6	10	0	3	1	2	0	1	1	5	1	5	1	2	0	1	3	2	0	4	8			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr7:92146659T>C	ENST00000248633.4	-	5	1265	c.1170A>G	c.(1168-1170)ggA>ggG	p.G390G	PEX1_ENST00000541751.1_5'UTR|PEX1_ENST00000438045.1_Intron|PEX1_ENST00000428214.1_Silent_p.G390G	NM_000466.2	NP_000457.1	O43933	PEX1_HUMAN	peroxisomal biogenesis factor 1	390					ATP catabolic process (GO:0006200)|microtubule-based peroxisome localization (GO:0060152)|peroxisome organization (GO:0007031)|protein import into peroxisome matrix (GO:0016558)|protein targeting to peroxisome (GO:0006625)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41	all_cancers(62;9.35e-11)|all_epithelial(64;4.59e-10)|Breast(17;0.00201)|all_lung(186;0.0438)|Lung NSC(181;0.0592)	Breast(660;0.000932)|all_neural(109;0.00391)|Myeloproliferative disorder(862;0.0122)|Ovarian(593;0.023)|Medulloblastoma(109;0.123)	GBM - Glioblastoma multiforme(5;4.06e-06)|STAD - Stomach adenocarcinoma(4;4.51e-05)|all cancers(6;5.32e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23)			ATTCTTCAAGTCCATTCCAGA	0.358																																						ENST00000248633.4																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						c.(1168-1170)ggA>ggG		peroxisomal biogenesis factor 1							141	141	141					7																	92146659		2203	4300	6503	SO:0001819	synonymous_variant	5189				microtubule-based peroxisome localization|protein import into peroxisome matrix	cytosol|nucleus|peroxisomal membrane	ATP binding|ATPase activity, coupled|protein C-terminus binding|protein complex binding	g.chr7:92146659T>C	AF026086	CCDS5627.1, CCDS64710.1	7q21.2	2010-04-21	2008-08-26		ENSG00000127980	ENSG00000127980		"ATPases / AAA-type"	8850	protein-coding gene	gene with protein product		602136	"peroxisome biogenesis factor 1", "Zellweger syndrome 1", "Zellweger syndrome"	ZWS1, ZWS		9398848	Standard	NM_001282677		Approved		uc003uly.3	O43933	OTTHUMG00000023926	ENST00000248633.4:c.1170A>G	7.37:g.92146659T>C						PEX1_ENST00000541751.1_5'UTR|PEX1_ENST00000438045.1_Intron|PEX1_ENST00000428214.1_Silent_p.G390G	p.G390G	NM_000466.2	NP_000457.1	O43933	PEX1_HUMAN	GBM - Glioblastoma multiforme(5;4.06e-06)|STAD - Stomach adenocarcinoma(4;4.51e-05)|all cancers(6;5.32e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23)		5	1265	-	all_cancers(62;9.35e-11)|all_epithelial(64;4.59e-10)|Breast(17;0.00201)|all_lung(186;0.0438)|Lung NSC(181;0.0592)	Breast(660;0.000932)|all_neural(109;0.00391)|Myeloproliferative disorder(862;0.0122)|Ovarian(593;0.023)|Medulloblastoma(109;0.123)	390					A4D1G3|A8KA90|B4DIM7|E9PE75|Q96S71|Q96S72|Q96S73|Q99994	Silent	SNP	ENST00000248633.4	37	c.1170A>G	CCDS5627.1																																																																																				0.358	PEX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254066.3	NM_000466		10	43	0	0	0	1	0	10	43					C	92146659	T	C	92146659	2	2	286	1	0	0	0	0	0	0	0	1	11735	1654	58	4		4	PEX1	7	92146659	Silent	SNP	T	TCGA-J9-A52C-01A-11D-A26M-08	1251967	92146659	66992004	269	13399											
TMEM130	222865	broad.mit.edu	37	chr7	98445737	98445737	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagcagcccgtggttctcaCgaacaatttccaggtactca	10	9	10	12	2	2	0	2	0	1	0	4	2	3	1	2	3	4	3	2	3	3	3			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr7:98445737C>T	ENST00000416379.2	-	8	1254	c.1250G>A	c.(1249-1251)cGt>cAt	p.R417H	TMEM130_ENST00000546258.1_Missense_Mutation_p.R386H|TMEM130_ENST00000345589.4_Missense_Mutation_p.R303H|TMEM130_ENST00000474857.1_5'Flank|TMEM130_ENST00000339375.4_Missense_Mutation_p.R405H|TMEM130_ENST00000450876.1_Missense_Mutation_p.R321H			Q8N3G9	TM130_HUMAN	transmembrane protein 130	417						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	25	all_cancers(62;4.05e-09)|all_epithelial(64;2.62e-09)|Lung NSC(181;0.01)|all_lung(186;0.0115)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			GTGGTTCTCACGAACAATTTC	0.567																																						ENST00000450876.1																			0				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	25						c.(961-963)cGt>cAt		transmembrane protein 130							59	57	58					7																	98445737		2203	4300	6503	SO:0001583	missense	222865					Golgi membrane|integral to membrane		g.chr7:98445737C>T		CCDS5658.1, CCDS47649.1, CCDS47650.1	7q22.1	2006-03-09			ENSG00000166448	ENSG00000166448			25429	protein-coding gene	gene with protein product						12975309	Standard	NM_152913		Approved	DKFZp761L1417, FLJ42643	uc003upo.3	Q8N3G9	OTTHUMG00000154419	ENST00000416379.2:c.1250G>A	7.37:g.98445737C>T	ENSP00000413163:p.Arg417His					TMEM130_ENST00000339375.4_Missense_Mutation_p.R405H|TMEM130_ENST00000546258.1_Missense_Mutation_p.R386H|TMEM130_ENST00000345589.4_Missense_Mutation_p.R303H|TMEM130_ENST00000416379.2_Missense_Mutation_p.R417H	p.R321H			Q8N3G9	TM130_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)		8	2277	-	all_cancers(62;4.05e-09)|all_epithelial(64;2.62e-09)|Lung NSC(181;0.01)|all_lung(186;0.0115)|Esophageal squamous(72;0.0274)		417					A4D266|B7Z364|Q8IY46|Q8N0W9|Q8N3R2	Missense_Mutation	SNP	ENST00000416379.2	37	c.962G>A	CCDS47650.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.049714	0.75846	.	.	ENSG00000166448	ENST00000416379;ENST00000339375;ENST00000450876;ENST00000345589;ENST00000546258	T;T;T;T;T	0.26957	1.71;1.7;1.74;1.75;1.72	5.31	4.42	0.53409	.	0.131302	0.31347	N	0.007820	T	0.43545	0.1252	L	0.56769	1.78	0.37119	D	0.900714	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.74023	0.982;0.982;0.982;0.982	T	0.49263	-0.8958	10	0.66056	D	0.02	-26.0954	10.3828	0.44121	0.0:0.9065:0.0:0.0935	.	405;386;417;303	Q8N3G9-2;B7Z2F1;Q8N3G9;Q8N3G9-3	.;.;TM130_HUMAN;.	H	417;405;321;303;386	ENSP00000413163:R417H;ENSP00000341256:R405H;ENSP00000390200:R321H;ENSP00000330262:R303H;ENSP00000445869:R386H	ENSP00000341256:R405H	R	-	2	0	TMEM130	98283673	0.931000	0.31567	0.993000	0.49108	0.822000	0.46500	2.760000	0.47581	2.491000	0.84063	0.561000	0.74099	CGT		0.567	TMEM130-008	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000380713.1	NM_152913		9	43	0	0	0	1	0	9	43					T	98445737	C	T	98445737	3	4	286	1	0	0	0	0	1	0	0	0	16040	536	19	1	61	1	TMEM130	7	98445737	Missense_Mutation	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	6299078	98445737	60692926	270	13400											
TRRAP	8295	broad.mit.edu	37	chr7	98608824	98608824	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctggctctgataggcttcgcGgaattcgtcctgcatttaaa	8	13	10	10	3	1	1	0	1	1	0	4	2	2	2	1	3	1	3	1	3	4	5	rs200919131	byFrequency	TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr7:98608824G>A	ENST00000359863.4	+	70	11255	c.11046G>A	c.(11044-11046)gcG>gcA	p.A3682A	AC004893.11_ENST00000360902.1_RNA|TRRAP_ENST00000446306.3_Silent_p.A3671A|TRRAP_ENST00000355540.3_Silent_p.A3653A	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	3682	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.				chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone deubiquitination (GO:0016578)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|mitotic cell cycle checkpoint (GO:0007093)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PCAF complex (GO:0000125)|STAGA complex (GO:0030914)|Swr1 complex (GO:0000812)|transcription factor TFTC complex (GO:0033276)	phosphotransferase activity, alcohol group as acceptor (GO:0016773)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			TAGGCTTCGCGGAATTCGTCC	0.537													G|||	2	0.000399361	0	0	5008	,	,		19375	0.002		0	False		,,,				2504	0					ENST00000359863.4																			0				NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176						c.(11044-11046)gcG>gcA		transformation/transcription domain-associated protein		G		1,4405	2.1+/-5.4	0,1,2202	123	115	118		10959	-11.1	0	7		118	0,8600		0,0,4300	no	coding-synonymous	TRRAP	NM_003496.3		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		3653/3831	98608824	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	8295				histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity	g.chr7:98608824G>A	AF076974	CCDS5659.1, CCDS59066.1	7q21.2-q22.1	2010-06-22			ENSG00000196367	ENSG00000196367			12347	protein-coding gene	gene with protein product		603015				9708738, 9885574	Standard	NM_003496		Approved	TR-AP, PAF400, Tra1	uc003upp.3	Q9Y4A5	OTTHUMG00000150403	ENST00000359863.4:c.11046G>A	7.37:g.98608824G>A						TRRAP_ENST00000355540.3_Silent_p.A3653A|TRRAP_ENST00000446306.3_Silent_p.A3671A	p.A3682A	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)		70	11255	+	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		3682			PI3K/PI4K.		A4D265|O75218|Q9Y631|Q9Y6H4	Silent	SNP	ENST00000359863.4	37	c.11046G>A	CCDS59066.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	6.704	0.498573	0.12762	2.27E-4	0.0	ENSG00000196367	ENST00000456197	.	.	.	5.53	-11.1	0.00147	.	.	.	.	.	T	0.41442	0.1159	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.59674	-0.7410	4	.	.	.	.	4.7092	0.12865	0.1779:0.4175:0.2672:0.1374	.	.	.	.	Q	3411	.	.	R	+	2	0	TRRAP	98446760	0.000000	0.05858	0.004000	0.12327	0.815000	0.46073	-1.989000	0.01480	-4.821000	0.00030	-1.193000	0.01689	CGG		0.537	TRRAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317978.1	NM_003496		15	85	0	0	0	1	0	15	85					A	98608824	G	A	98608824	2	1	286	1	0	0	0	0	0	0	0	1	16598	1103	39	2		2	TRRAP	7	98608824	Silent	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	163087	98608824	60529839	271	13401											
CLDN15	24146	broad.mit.edu	37	chr7	100880655	100880655	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ccaccccataccagagagggCcagcatggacgggaactccc	11	3	11	16	1	0	1	0	0	0	1	1	4	1	3	6	3	3	1	6	3	2	1			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr7:100880655C>T	ENST00000401528.1	-	2	1333	c.208G>A	c.(208-210)Gcc>Acc	p.A70T	CLDN15_ENST00000308344.5_Missense_Mutation_p.A70T|FIS1_ENST00000482199.1_5'Flank|CLDN15_ENST00000433422.1_5'UTR	NM_001185080.1	NP_001172009.1	P56746	CLD15_HUMAN	claudin 15	70					calcium-independent cell-cell adhesion (GO:0016338)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|ion transport (GO:0006811)|tight junction assembly (GO:0070830)	integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)|tight junction (GO:0005923)	identical protein binding (GO:0042802)|structural molecule activity (GO:0005198)			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	10	Lung NSC(181;0.168)|all_lung(186;0.215)					CCAGAGAGGGCCAGCATGGAC	0.637																																						ENST00000401528.1																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	10						c.(208-210)Gcc>Acc		claudin 15							79	58	65					7																	100880655		2203	4299	6502	SO:0001583	missense	24146				calcium-independent cell-cell adhesion|tight junction assembly	integral to membrane|tight junction	identical protein binding|structural molecule activity	g.chr7:100880655C>T	AJ245738	CCDS5717.1	7q22	2008-07-18			ENSG00000106404	ENSG00000106404		"Claudins"	2036	protein-coding gene	gene with protein product		615778					Standard	NM_014343		Approved		uc003uyg.2	P56746	OTTHUMG00000150512	ENST00000401528.1:c.208G>A	7.37:g.100880655C>T	ENSP00000385300:p.Ala70Thr					CLDN15_ENST00000308344.5_Missense_Mutation_p.A70T|CLDN15_ENST00000433422.1_5'UTR	p.A70T	NM_001185080.1	NP_001172009.1	P56746	CLD15_HUMAN			2	1333	-	Lung NSC(181;0.168)|all_lung(186;0.215)		70					B3KPB5	Missense_Mutation	SNP	ENST00000401528.1	37	c.208G>A	CCDS5717.1	.	.	.	.	.	.	.	.	.	.	C	28.4	4.918778	0.92249	.	.	ENSG00000106404	ENST00000308344;ENST00000401528;ENST00000414035;ENST00000412417	D;D;D;D	0.89196	-2.48;-2.48;-2.41;-2.48	4.73	4.73	0.59995	.	0.168980	0.51477	D	0.000090	D	0.94791	0.8318	M	0.87758	2.905	0.54753	D	0.999985	D;D	0.76494	0.999;0.992	D;D	0.74348	0.983;0.946	D	0.95540	0.8611	10	0.72032	D	0.01	.	15.5526	0.76164	0.0:1.0:0.0:0.0	.	70;70	Q96FX9;P56746	.;CLD15_HUMAN	T	70	ENSP00000308870:A70T;ENSP00000385300:A70T;ENSP00000398418:A70T;ENSP00000390230:A70T	ENSP00000308870:A70T	A	-	1	0	CLDN15	100667375	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	7.406000	0.80017	2.336000	0.79503	0.655000	0.94253	GCC		0.637	CLDN15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318698.1	NM_014343		3	16	0	0	0	1	0	3	16					T	100880655	C	T	100880655	3	4	286	1	0	0	0	0	1	0	0	0	3476	739	26	3	498	3	CLDN15	7	100880655	Missense_Mutation	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	2271831	100880655	58258008	272	13402											
CUX1	1523	broad.mit.edu	37	chr7	101758534	101758534	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttgacctgaaaaccaaatacGatgaagaaactactgcaaag	19	7	7	8	1	0	4	0	3	0	1	0	5	0	4	2	0	5	1	2	0	8	3			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr7:101758534G>A	ENST00000292535.7	+	8	693	c.655G>A	c.(655-657)Gat>Aat	p.D219N	CUX1_ENST00000560541.1_3'UTR|CUX1_ENST00000550008.2_Missense_Mutation_p.D219N|CUX1_ENST00000547394.2_Missense_Mutation_p.D214N|CUX1_ENST00000546411.2_Missense_Mutation_p.D219N|CUX1_ENST00000425244.2_Missense_Mutation_p.D184N|CUX1_ENST00000549414.2_Missense_Mutation_p.D219N|CUX1_ENST00000437600.4_Missense_Mutation_p.D230N|CUX1_ENST00000292538.4_Missense_Mutation_p.D230N|CUX1_ENST00000360264.3_Missense_Mutation_p.D230N|CUX1_ENST00000556210.1_Missense_Mutation_p.D219N|CUX1_ENST00000393824.3_Missense_Mutation_p.D193N	NM_181552.3	NP_853530.2	P39880	CUX1_HUMAN	cut-like homeobox 1	219					auditory receptor cell differentiation (GO:0042491)|kidney development (GO:0001822)|lung development (GO:0030324)|multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of dendrite morphogenesis (GO:0050775)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|retrograde transport, vesicle recycling within Golgi (GO:0000301)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi membrane (GO:0000139)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding (GO:0043565)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						AACCAAATACGATGAAGAAAC	0.373																																						ENST00000360264.3																			0				breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						c.(688-690)Gat>Aat		cut-like homeobox 1							116	111	113					7																	101758534		2203	4300	6503	SO:0001583	missense	1523				negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:101758534G>A	M74099	CCDS5720.1, CCDS5721.1, CCDS47672.1, CCDS56498.1, CCDS56499.1, CCDS56500.1, CCDS59071.1	7q22.1	2012-10-03	2007-11-07	2007-11-07	ENSG00000257923	ENSG00000257923		"Homeoboxes / CUT class"	2557	protein-coding gene	gene with protein product	"golgi integral membrane protein 6"	116896	"cut (Drosophila)-like 1 (CCAAT displacement protein)", "cut-like 1, CCAAT displacement protein (Drosophila)"	CUTL1		8468066, 9799793, 15004235	Standard	NM_001202543		Approved	CDP, CDP1, CUX, CUT, Clox, CDP/Cut, CDP/Cux, Cux/CDP, CASP, GOLIM6	uc003uyx.4	P39880	OTTHUMG00000157129	ENST00000292535.7:c.655G>A	7.37:g.101758534G>A	ENSP00000292535:p.Asp219Asn					CUX1_ENST00000560541.1_3'UTR|CUX1_ENST00000437600.4_Missense_Mutation_p.D230N|CUX1_ENST00000292535.7_Missense_Mutation_p.D219N|CUX1_ENST00000556210.1_Missense_Mutation_p.D219N|CUX1_ENST00000550008.2_Missense_Mutation_p.D219N|CUX1_ENST00000549414.2_Missense_Mutation_p.D219N|CUX1_ENST00000547394.2_Missense_Mutation_p.D214N|CUX1_ENST00000546411.2_Missense_Mutation_p.D219N|CUX1_ENST00000292538.4_Missense_Mutation_p.D230N|CUX1_ENST00000393824.3_Missense_Mutation_p.D193N|CUX1_ENST00000425244.2_Missense_Mutation_p.D184N	p.D230N	NM_001202543.1	NP_001189472.1	P39880	CUX1_HUMAN			8	708	+			219					B3KV79|J3KQV9|Q6NYH4|Q75LE5|Q75MT2|Q75MT3|Q86UJ7|Q9UEV5	Missense_Mutation	SNP	ENST00000292535.7	37	c.688G>A	CCDS5721.1	.	.	.	.	.	.	.	.	.	.	G	19.81	3.896566	0.72639	.	.	ENSG00000257923	ENST00000292538;ENST00000547394;ENST00000360264;ENST00000425244;ENST00000437600;ENST00000292535;ENST00000549414;ENST00000550008;ENST00000546411;ENST00000556210	T;T;T;T;T;T;T;T;T;T	0.79653	0.99;0.99;0.99;1.48;0.99;0.99;-1.29;0.99;0.99;0.99	5.88	5.88	0.94601	.	0.000000	0.85682	D	0.000000	D	0.86644	0.5982	L	0.41824	1.3	0.58432	D	0.999999	P;D;D;D;P;B;D	0.89917	0.926;1.0;1.0;1.0;0.798;0.217;1.0	B;D;D;D;B;B;D	0.83275	0.21;0.99;0.981;0.968;0.305;0.049;0.996	D	0.84946	0.0868	10	0.41790	T	0.15	-23.5061	20.2228	0.98330	0.0:0.0:1.0:0.0	.	193;219;184;214;230;230;230	B4DZZ2;P39880;B3KV79;G3V1Z6;Q13948-2;Q13948;P39880-3	.;CUX1_HUMAN;.;.;.;CASP_HUMAN;.	N	230;214;230;184;230;219;219;219;219;219	ENSP00000292538:D230N;ENSP00000449371:D214N;ENSP00000353401:D230N;ENSP00000409745:D184N;ENSP00000414091:D230N;ENSP00000292535:D219N;ENSP00000446630:D219N;ENSP00000447373:D219N;ENSP00000450125:D219N;ENSP00000451558:D219N	ENSP00000292535:D219N	D	+	1	0	CUX1	101545254	1.000000	0.71417	0.974000	0.42286	0.981000	0.71138	7.318000	0.79029	2.789000	0.95967	0.655000	0.94253	GAT		0.373	CUX1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000347535.1	NM_001913		5	53	0	0	0	1	0	5	53					A	101758534	G	A	101758534	3	1	286	1	0	0	0	0	1	0	0	0	4064	1058	37	2	752	2	CUX1	7	101758534	Missense_Mutation	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	877879	101758534	57380129	273	13403											
CUX1	1523	broad.mit.edu	37	chr7	101840561	101840561	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agcagaacatcctggccctcCgtagcatccaaggcagacaa	13	5	9	14	1	0	2	0	0	0	2	3	2	3	2	4	2	3	4	4	2	4	1	rs371099197		TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr7:101840561C>T	ENST00000292535.7	+	15	1908	c.1870C>T	c.(1870-1872)Cgt>Tgt	p.R624C	CUX1_ENST00000560541.1_Intron|CUX1_ENST00000550008.2_Missense_Mutation_p.R624C|CUX1_ENST00000547394.2_Intron|CUX1_ENST00000546411.2_Missense_Mutation_p.R522C|CUX1_ENST00000425244.2_Intron|CUX1_ENST00000549414.2_Missense_Mutation_p.R624C|CUX1_ENST00000437600.4_Intron|CUX1_ENST00000292538.4_Intron|CUX1_ENST00000360264.3_Missense_Mutation_p.R635C|CUX1_ENST00000556210.1_Missense_Mutation_p.R522C|CUX1_ENST00000393824.3_Intron	NM_181552.3	NP_853530.2	P39880	CUX1_HUMAN	cut-like homeobox 1	624					auditory receptor cell differentiation (GO:0042491)|kidney development (GO:0001822)|lung development (GO:0030324)|multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of dendrite morphogenesis (GO:0050775)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|retrograde transport, vesicle recycling within Golgi (GO:0000301)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi membrane (GO:0000139)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding (GO:0043565)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						CCTGGCCCTCCGTAGCATCCA	0.572																																						ENST00000360264.3																			0				breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						c.(1903-1905)Cgt>Tgt		cut-like homeobox 1							63	58	60					7																	101840561		2203	4300	6503	SO:0001583	missense	1523				negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:101840561C>T	M74099	CCDS5720.1, CCDS5721.1, CCDS47672.1, CCDS56498.1, CCDS56499.1, CCDS56500.1, CCDS59071.1	7q22.1	2012-10-03	2007-11-07	2007-11-07	ENSG00000257923	ENSG00000257923		"Homeoboxes / CUT class"	2557	protein-coding gene	gene with protein product	"golgi integral membrane protein 6"	116896	"cut (Drosophila)-like 1 (CCAAT displacement protein)", "cut-like 1, CCAAT displacement protein (Drosophila)"	CUTL1		8468066, 9799793, 15004235	Standard	NM_001202543		Approved	CDP, CDP1, CUX, CUT, Clox, CDP/Cut, CDP/Cux, Cux/CDP, CASP, GOLIM6	uc003uyx.4	P39880	OTTHUMG00000157129	ENST00000292535.7:c.1870C>T	7.37:g.101840561C>T	ENSP00000292535:p.Arg624Cys					CUX1_ENST00000560541.1_Intron|CUX1_ENST00000437600.4_Intron|CUX1_ENST00000292535.7_Missense_Mutation_p.R624C|CUX1_ENST00000556210.1_Missense_Mutation_p.R522C|CUX1_ENST00000550008.2_Missense_Mutation_p.R624C|CUX1_ENST00000549414.2_Missense_Mutation_p.R624C|CUX1_ENST00000547394.2_Intron|CUX1_ENST00000546411.2_Missense_Mutation_p.R522C|CUX1_ENST00000292538.4_Intron|CUX1_ENST00000393824.3_Intron|CUX1_ENST00000425244.2_Intron	p.R635C	NM_001202543.1	NP_001189472.1	P39880	CUX1_HUMAN			15	1923	+			624					B3KV79|J3KQV9|Q6NYH4|Q75LE5|Q75MT2|Q75MT3|Q86UJ7|Q9UEV5	Missense_Mutation	SNP	ENST00000292535.7	37	c.1903C>T	CCDS5721.1	.	.	.	.	.	.	.	.	.	.	C	18.17	3.565312	0.65651	.	.	ENSG00000257923	ENST00000360264;ENST00000292535;ENST00000549414;ENST00000550008;ENST00000546411;ENST00000556210	T;T;T;T;T;T	0.70164	-0.34;-0.33;-0.46;-0.43;-0.28;-0.31	5.41	4.48	0.54585	Homeodomain protein CUT (1);Lambda repressor-like, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.72606	0.3481	L	0.34521	1.04	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.71474	-0.4582	10	0.38643	T	0.18	-17.5567	14.9217	0.70843	0.1437:0.8563:0.0:0.0	.	624;635	P39880;P39880-3	CUX1_HUMAN;.	C	635;624;624;624;522;522	ENSP00000353401:R635C;ENSP00000292535:R624C;ENSP00000446630:R624C;ENSP00000447373:R624C;ENSP00000450125:R522C;ENSP00000451558:R522C	ENSP00000292535:R624C	R	+	1	0	CUX1	101627281	1.000000	0.71417	0.946000	0.38457	0.982000	0.71751	3.747000	0.55134	2.527000	0.85204	0.561000	0.74099	CGT		0.572	CUX1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000347535.1	NM_001913		10	51	0	0	0	1	0	10	51					T	101840561	C	T	101840561	3	4	286	1	0	0	0	0	1	0	0	0	4064	652	23	2	1995	2	CUX1	7	101840561	Missense_Mutation	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	82027	101840561	57298102	274	13404											
PPP1R3A	5506	broad.mit.edu	37	chr7	113558764	113558764	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttctgtgtggaaaatgtcCgtccctaagtcaaaagtggt	10	13	10	8	1	3	0	1	0	2	0	5	1	5	1	2	2	0	0	2	2	5	2	rs111896635		TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr7:113558764C>T	ENST00000284601.3	-	1	356	c.288G>A	c.(286-288)acG>acA	p.T96T		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	96					glycogen metabolic process (GO:0005977)	integral component of membrane (GO:0016021)				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						GGAAAATGTCCGTCCCTAAGT	0.383													C|||	1	0.000199681	8e-04	0	5008	,	,		18568	0		0	False		,,,				2504	0					ENST00000284601.3																			0				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						c.(286-288)acG>acA		protein phosphatase 1, regulatory subunit 3A		C		4,4402	8.1+/-20.4	0,4,2199	100	95	97		288	-0.9	0	7	dbSNP_132	97	0,8600		0,0,4300	no	coding-synonymous	PPP1R3A	NM_002711.3		0,4,6499	TT,TC,CC		0.0,0.0908,0.0308		96/1123	113558764	4,13002	2203	4300	6503	SO:0001819	synonymous_variant	5506				glycogen metabolic process	integral to membrane		g.chr7:113558764C>T	AF024578	CCDS5759.1	7q31.1	2012-04-17	2011-10-04	2001-07-02	ENSG00000154415	ENSG00000154415	3.1.3.16	"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	9291	protein-coding gene	gene with protein product	"glycogen-associated regulatory subunit of protein phosphatase-1", "protein phosphatase 1 regulatory subunit GM"	600917	"protein phosphatase 1, regulatory (inhibitor) subunit 3A (glycogen and sarcoplasmic reticulum binding subunit, skeletal muscle)", "protein phosphatase 1, regulatory (inhibitor) subunit 3A"	PPP1R3		7926294	Standard	NM_002711		Approved	GM	uc010ljy.1	Q16821	OTTHUMG00000156944	ENST00000284601.3:c.288G>A	7.37:g.113558764C>T							p.T96T	NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN			1	356	-			96					A0AVQ2|A4D0T6|O43476|Q75LN8|Q7KYM8|Q86UI6	Silent	SNP	ENST00000284601.3	37	c.288G>A	CCDS5759.1																																																																																				0.383	PPP1R3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346724.1	NM_002711		11	55	0	0	0	1	0	11	55					T	113558764	C	T	113558764	2	4	286	1	0	0	0	0	0	0	0	1	12371	639	23	2		2	PPP1R3A	7	113558764	Silent	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	11718203	113558764	45579899	275	13405											
CADPS2	93664	broad.mit.edu	37	chr7	122261737	122261737	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttctatatacatattctccAtatcttttgctataaatttg	11	20	2	8	0	3	0	0	0	3	0	4	0	3	0	1	0	2	1	1	0	8	12			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr7:122261737A>G	ENST00000449022.2	-	5	921	c.902T>C	c.(901-903)aTg>aCg	p.M301T	CADPS2_ENST00000412584.2_Missense_Mutation_p.M301T|CADPS2_ENST00000334010.7_Missense_Mutation_p.M301T|CADPS2_ENST00000313070.7_Missense_Mutation_p.M301T	NM_017954.10	NP_060424.9	Q86UW7	CAPS2_HUMAN	Ca++-dependent secretion activator 2	301					cellular response to starvation (GO:0009267)|positive regulation of exocytosis (GO:0045921)|protein transport (GO:0015031)|synaptic vesicle priming (GO:0016082)	cell junction (GO:0030054)|cytoplasmic membrane-bounded vesicle (GO:0016023)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	lipid binding (GO:0008289)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(2)	43						CATATTCTCCATATCTTTTGC	0.289																																						ENST00000334010.7																			0				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(2)	43						c.(901-903)aTg>aCg		Ca++-dependent secretion activator 2							61	59	60					7																	122261737		1784	4060	5844	SO:0001583	missense	93664				exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|synapse	lipid binding|metal ion binding	g.chr7:122261737A>G		CCDS47691.1, CCDS55158.1	7q31.32	2013-01-10	2008-08-28		ENSG00000081803	ENSG00000081803		"Pleckstrin homology (PH) domain containing"	16018	protein-coding gene	gene with protein product		609978	"Ca++-dependent activator protein for secretion 2"				Standard	NM_017954		Approved		uc010lkq.3	Q86UW7	OTTHUMG00000157093	ENST00000449022.2:c.902T>C	7.37:g.122261737A>G	ENSP00000398481:p.Met301Thr					CADPS2_ENST00000449022.2_Missense_Mutation_p.M301T|CADPS2_ENST00000412584.2_Missense_Mutation_p.M301T|CADPS2_ENST00000313070.7_Missense_Mutation_p.M301T	p.M301T	NM_001167940.1	NP_001161412.1	Q86UW7	CAPS2_HUMAN			5	1323	-			301					A4D0X3|B7ZM56|Q658Q2|Q7Z5T7|Q8IZW9|Q8N7M4|Q9H6P4|Q9HCI1|Q9NWK8	Missense_Mutation	SNP	ENST00000449022.2	37	c.902T>C	CCDS55158.1	.	.	.	.	.	.	.	.	.	.	A	19.46	3.831736	0.71258	.	.	ENSG00000081803	ENST00000313070;ENST00000334010;ENST00000420900;ENST00000545465;ENST00000412584;ENST00000449022	T;T;T;T	0.52295	0.67;0.67;0.67;0.68	5.6	5.6	0.85130	.	0.000000	0.85682	D	0.000000	T	0.69088	0.3072	M	0.80422	2.495	0.80722	D	1	D;D;D	0.59357	0.985;0.973;0.96	P;P;D	0.64144	0.892;0.885;0.922	T	0.74241	-0.3729	10	0.87932	D	0	-21.1027	15.785	0.78294	1.0:0.0:0.0:0.0	.	301;301;301	Q86UW7-2;Q86UW7;Q86UW7-3	.;CAPS2_HUMAN;.	T	301;301;301;268;301;301	ENSP00000325581:M301T;ENSP00000333940:M301T;ENSP00000400401:M301T;ENSP00000398481:M301T	ENSP00000325581:M301T	M	-	2	0	CADPS2	122048973	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	9.339000	0.96797	2.136000	0.66102	0.383000	0.25322	ATG		0.289	CADPS2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000347414.2	NM_017954		4	15	0	0	0	1	0	4	15					G	122261737	A	G	122261737	3	3	286	1	0	0	0	0	1	0	0	0	2571	217	8	4	3136	4	CADPS2	7	122261737	Missense_Mutation	SNP	A	TCGA-J9-A52C-01A-11D-A26M-08	8702973	122261737	36876926	276	13406											
RNF148	378925	broad.mit.edu	37	chr7	122342454	122342454	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gctcccttctctgctgccacGttgattttatgtgtaaaagt	7	16	8	10	1	1	1	0	1	1	0	3	1	2	1	2	0	2	4	2	0	3	5	rs199897572	byFrequency	TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr7:122342454G>A	ENST00000434824.1	-	1	567	c.351C>T	c.(349-351)aaC>aaT	p.N117N	RNF148_ENST00000447240.1_Intron|CADPS2_ENST00000412584.2_Intron|CADPS2_ENST00000449022.2_Intron|CADPS2_ENST00000334010.7_Intron|CADPS2_ENST00000313070.7_Intron	NM_198085.1	NP_932351.1	Q8N7C7	RN148_HUMAN	ring finger protein 148	117	PA.					integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(6)|lung(7)	16						CTGCTGCCACGTTGATTTTAT	0.483													G|||	2	0.000399361	8e-04	0	5008	,	,		20452	0.001		0	False		,,,				2504	0					ENST00000434824.1																			0				endometrium(2)|kidney(1)|large_intestine(6)|lung(7)	16						c.(349-351)aaC>aaT		ring finger protein 148		G	,,,	4,4074		0,4,2035	216	215	215		,,,351	-9.1	1	7		215	0,8368		0,0,4184	no	intron,intron,intron,coding-synonymous	CADPS2,RNF148	NM_001009571.3,NM_001167940.1,NM_017954.10,NM_198085.1	,,,	0,4,6219	AA,AG,GG		0.0,0.0981,0.0321	,,,	,,,117/306	122342454	4,12442	2039	4184	6223	SO:0001819	synonymous_variant	378925					integral to membrane	zinc ion binding	g.chr7:122342454G>A	BC029264	CCDS47692.1	7q31.33	2013-01-09			ENSG00000235631	ENSG00000235631		"RING-type (C3HC4) zinc fingers"	22411	protein-coding gene	gene with protein product						8744354	Standard	NM_198085		Approved	MGC35222	uc003vkk.1	Q8N7C7	OTTHUMG00000157099	ENST00000434824.1:c.351C>T	7.37:g.122342454G>A						CADPS2_ENST00000449022.2_Intron|CADPS2_ENST00000412584.2_Intron|RNF148_ENST00000447240.1_Intron|CADPS2_ENST00000334010.7_Intron|CADPS2_ENST00000313070.7_Intron	p.N117N	NM_198085.1	NP_932351.1	Q8N7C7	RN148_HUMAN			1	567	-			117			PA.		A4D0X4|Q8N308	Silent	SNP	ENST00000434824.1	37	c.351C>T	CCDS47692.1																																																																																				0.483	RNF148-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347424.1	NM_198085		32	149	0	0	0	1	0	32	149					A	122342454	G	A	122342454	2	1	286	1	0	0	0	0	0	0	0	1	13449	1136	40	1		1	RNF148	7	122342454	Silent	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	80717	122342454	36796209	277	13407											
IMPDH1	3614	broad.mit.edu	37	chr7	128034367	128034367	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acaccaccctcaatctgggcCgacatggtccgcttctcaaa	10	8	7	16	2	3	0	2	0	2	0	5	1	4	0	4	2	0	1	4	2	2	1			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr7:128034367C>T	ENST00000480861.1	-	13	1550	c.1473G>A	c.(1471-1473)tcG>tcA	p.S491S	IMPDH1_ENST00000348127.6_Silent_p.S545S|IMPDH1_ENST00000343214.4_Silent_p.S471S|IMPDH1_ENST00000470772.1_Silent_p.S495S|IMPDH1_ENST00000496200.1_Silent_p.S471S|IMPDH1_ENST00000378717.4_Silent_p.S512S|IMPDH1_ENST00000338791.6_Silent_p.S581S|IMPDH1_ENST00000419067.2_Silent_p.S548S|IMPDH1_ENST00000354269.5_Silent_p.S571S	NM_001142574.1	NP_001136046.1			IMP (inosine 5'-monophosphate) dehydrogenase 1											breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(3)	22						CAATCTGGGCCGACATGGTCC	0.592																																						ENST00000338791.6																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(3)	22						c.(1741-1743)tcG>tcA		IMP (inosine 5'-monophosphate) dehydrogenase 1	Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|NADH(DB00157)|Ribavirin(DB00811)|Thioguanine(DB00352)						119	96	104					7																	128034367		2203	4300	6503	SO:0001819	synonymous_variant	3614				GMP biosynthetic process|purine base metabolic process	cytosol|nucleus	DNA binding|IMP dehydrogenase activity|metal ion binding	g.chr7:128034367C>T		CCDS34748.1, CCDS34749.1, CCDS43643.1, CCDS47699.1, CCDS47700.1, CCDS55161.1	7q31.3-q32	2013-01-08	2010-04-29		ENSG00000106348	ENSG00000106348	1.1.1.205		6052	protein-coding gene	gene with protein product		146690	"retinitis pigmentosa 10 (autosomal dominant)", "IMP (inosine monophosphate) dehydrogenase 1"	RP10		1969416, 11875049, 11875050	Standard	NM_000883		Approved	sWSS2608, LCA11	uc003vmu.2	P20839	OTTHUMG00000157713	ENST00000480861.1:c.1473G>A	7.37:g.128034367C>T						IMPDH1_ENST00000496200.1_Silent_p.S471S|IMPDH1_ENST00000354269.5_Silent_p.S571S|IMPDH1_ENST00000470772.1_Silent_p.S495S|IMPDH1_ENST00000419067.2_Silent_p.S548S|IMPDH1_ENST00000343214.4_Silent_p.S471S|IMPDH1_ENST00000378717.4_Silent_p.S512S|IMPDH1_ENST00000348127.6_Silent_p.S545S|IMPDH1_ENST00000480861.1_Silent_p.S491S	p.S581S	NM_000883.3	NP_000874.2	P20839	IMDH1_HUMAN			16	2093	-			496						Silent	SNP	ENST00000480861.1	37	c.1743G>A	CCDS55161.1																																																																																				0.592	IMPDH1-009	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000349462.1	NM_000883		11	36	0	0	0	1	0	11	36					T	128034367	C	T	128034367	2	4	286	1	0	0	0	0	0	0	0	1	7726	639	23	2		2	IMPDH1	7	128034367	Silent	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	5691913	128034367	31104296	278	13408											
FLNC	2318	broad.mit.edu	37	chr7	128488072	128488072	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cactacaccccagccactgaCgggccctacacggtagccgt	9	5	9	18	3	0	1	0	1	0	0	0	1	0	1	5	2	4	1	5	2	3	3	rs565243603		TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr7:128488072C>T	ENST00000325888.8	+	26	4791	c.4530C>T	c.(4528-4530)gaC>gaT	p.D1510D	FLNC_ENST00000346177.6_Silent_p.D1510D|RP11-309L24.2_ENST00000469965.1_RNA	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	1510					cell junction assembly (GO:0034329)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|cytoskeletal protein binding (GO:0008092)			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						CAGCCACTGACGGGCCCTACA	0.657													C|||	1	0.000199681	0	0	5008	,	,		15742	0		0.001	False		,,,				2504	0					ENST00000325888.8																			0				biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						c.(4528-4530)gaC>gaT		filamin C, gamma							27	36	33					7																	128488072		2128	4228	6356	SO:0001819	synonymous_variant	2318				cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding	g.chr7:128488072C>T	AB208865	CCDS43644.1, CCDS47705.1	7q32-q35	2014-09-17	2009-07-23		ENSG00000128591	ENSG00000128591			3756	protein-coding gene	gene with protein product	"actin binding protein 280"	102565	"filamin C, gamma (actin binding protein 280)"	FLN2		7689010, 8088838	Standard	NM_001458		Approved	ABP-280, ABPL	uc003vnz.4	Q14315	OTTHUMG00000023627	ENST00000325888.8:c.4530C>T	7.37:g.128488072C>T						FLNC_ENST00000346177.6_Silent_p.D1510D	p.D1510D	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN			26	4791	+			1510					B2ZZ88|O95303|Q07985|Q9NS12|Q9NYE5|Q9UMR8|Q9Y503	Silent	SNP	ENST00000325888.8	37	c.4530C>T	CCDS43644.1																																																																																				0.657	FLNC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059948.3			6	9	0	0	0	1	0	6	9					T	128488072	C	T	128488072	2	4	286	1	0	0	0	0	0	0	0	1	5935	535	19	1		1	FLNC	7	128488072	Silent	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	453705	128488072	30650591	279	13409											
FAM40B	57464	broad.mit.edu	37	chr7	129094302	129094302	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	acctaatggtggaaaatattCgcctggagcgagagacagac	14	7	12	8	2	0	2	0	0	0	2	1	6	0	4	2	3	1	0	2	3	4	3			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr7:129094302C>T	ENST00000249344.2	+	7	680	c.640C>T	c.(640-642)Cgc>Tgc	p.R214C	STRIP2_ENST00000435494.2_Missense_Mutation_p.R214C	NM_020704.2	NP_065755.1	Q9ULQ0	STRP2_HUMAN	striatin interacting protein 2	214					cell migration (GO:0016477)|cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)											GGAAAATATTCGCCTGGAGCG	0.522																																						ENST00000249344.2																			0											c.(640-642)Cgc>Tgc		striatin interacting protein 2							116	103	107					7																	129094302		2203	4300	6503	SO:0001583	missense	57464							g.chr7:129094302C>T	AB032996	CCDS34752.1, CCDS47709.1	7q32.3	2012-11-05	2012-11-05	2012-11-05	ENSG00000128578	ENSG00000128578			22209	protein-coding gene	gene with protein product	"FAR11 factor arrest 11 homolog B (yeast)"		"family with sequence similarity 40, member B"	FAM40B		22782902, 22298706, 18782753	Standard	NM_020704		Approved	KIAA1170, FAR11B	uc011koy.2	Q9ULQ0	OTTHUMG00000157695	ENST00000249344.2:c.640C>T	7.37:g.129094302C>T	ENSP00000249344:p.Arg214Cys					STRIP2_ENST00000435494.2_Missense_Mutation_p.R214C	p.R214C	NM_020704.2	NP_065755.1					7	680	+								Q8WUZ4	Missense_Mutation	SNP	ENST00000249344.2	37	c.640C>T	CCDS34752.1	.	.	.	.	.	.	.	.	.	.	C	24.4	4.526981	0.85706	.	.	ENSG00000128578	ENST00000249344;ENST00000435494	T;T	0.55588	0.52;0.51	5.71	5.71	0.89125	.	0.054495	0.64402	D	0.000001	T	0.76018	0.3929	M	0.86420	2.815	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.66847	0.91;0.947	T	0.80023	-0.1556	10	0.87932	D	0	-10.8251	17.3329	0.87271	0.0:1.0:0.0:0.0	.	214;214	Q9ULQ0;Q9ULQ0-2	FA40B_HUMAN;.	C	214	ENSP00000249344:R214C;ENSP00000392393:R214C	ENSP00000249344:R214C	R	+	1	0	FAM40B	128881538	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	3.065000	0.49994	2.706000	0.92434	0.561000	0.74099	CGC		0.522	STRIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349418.1	NM_001134336		7	47	0	0	0	1	0	7	47					T	129094302	C	T	129094302	3	4	286	1	0	0	0	0	1	0	0	0	5561	884	31	2	666	2	FAM40B	7	129094302	Missense_Mutation	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	606230	129094302	30044361	280	13410											
CPA1	1357	broad.mit.edu	37	chr7	130021608	130021608	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atgatcgaggacgtgcagtcGctgctggacgaggagcagga	10	6	17	8	4	0	1	0	1	0	0	2	7	0	5	0	4	3	4	0	4	0	0			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr7:130021608G>A	ENST00000011292.3	+	3	435	c.285G>A	c.(283-285)tcG>tcA	p.S95S	CPA1_ENST00000484324.1_Silent_p.S7S	NM_001868.2	NP_001859.1	P15085	CBPA1_HUMAN	carboxypeptidase A1 (pancreatic)	95					proteolysis (GO:0006508)	extracellular space (GO:0005615)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)	21	Melanoma(18;0.0435)					ACGTGCAGTCGCTGCTGGACG	0.612											OREG0018314	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000011292.3																			0				endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)	21						c.(283-285)tcG>tcA		carboxypeptidase A1 (pancreatic)							71	60	64					7																	130021608		2203	4300	6503	SO:0001819	synonymous_variant	1357				proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding	g.chr7:130021608G>A		CCDS5820.1	7q32	2012-02-10			ENSG00000091704	ENSG00000091704	3.4.17.1		2296	protein-coding gene	gene with protein product	"pancreatic carboxypeptidase A"	114850		CPA			Standard	NM_001868		Approved		uc003vpx.3	P15085	OTTHUMG00000157826	ENST00000011292.3:c.285G>A	7.37:g.130021608G>A			OREG0018314	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1576	CPA1_ENST00000484324.1_Silent_p.S7S	p.S95S	NM_001868.2	NP_001859.1	P15085	CBPA1_HUMAN			3	435	+	Melanoma(18;0.0435)		95					A4D1M1|Q53XU0|Q9BS67|Q9UCF2	Silent	SNP	ENST00000011292.3	37	c.285G>A	CCDS5820.1																																																																																				0.612	CPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349736.2	NM_001868		8	40	0	0	0	1	0	8	40					A	130021608	G	A	130021608	2	1	286	1	0	0	0	0	0	0	0	1	3789	1074	38	1		1	CPA1	7	130021608	Silent	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	927306	130021608	29117055	281	13411											
ZNF398	57541	broad.mit.edu	37	chr7	148875783	148875783	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaaggccttgctagatcctcGttgtgccctgaggttccagt	6	12	12	11	1	0	2	0	1	0	1	3	3	2	2	4	2	2	3	4	2	2	4	rs201966256		TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr7:148875783G>A	ENST00000475153.1	+	6	1086	c.819G>A	c.(817-819)tcG>tcA	p.S273S	ZNF398_ENST00000335901.4_Silent_p.S102S|ZNF398_ENST00000420008.2_Silent_p.S102S|ZNF398_ENST00000483892.1_Silent_p.S102S|ZNF398_ENST00000426851.2_Silent_p.S102S|ZNF398_ENST00000491174.1_Silent_p.S102S|ZNF398_ENST00000540950.1_Silent_p.S278S			Q8TD17	ZN398_HUMAN	zinc finger protein 398	273					positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(14)|ovary(1)	25	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00143)			CTAGATCCTCGTTGTGCCCTG	0.463													G|||	1	0.000199681	0	0	5008	,	,		21742	0.001		0	False		,,,				2504	0					ENST00000420008.2																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(14)|ovary(1)	25						c.(304-306)tcG>tcA		zinc finger protein 398							194	187	189					7																	148875783		2203	4300	6503	SO:0001819	synonymous_variant	0				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:148875783G>A	AB037760	CCDS5894.1, CCDS47739.1	7q35	2013-01-08			ENSG00000197024	ENSG00000197024		"Zinc fingers, C2H2-type", "-"	18373	protein-coding gene	gene with protein product						11779858	Standard	NM_170686		Approved	ZER6, KIAA1339, P51, P71	uc003wfl.3	Q8TD17	OTTHUMG00000158970	ENST00000475153.1:c.819G>A	7.37:g.148875783G>A						ZNF398_ENST00000491174.1_Silent_p.S102S|ZNF398_ENST00000483892.1_Silent_p.S102S|ZNF398_ENST00000335901.4_Silent_p.S102S|ZNF398_ENST00000475153.1_Silent_p.S273S|ZNF398_ENST00000540950.1_Silent_p.S278S|ZNF398_ENST00000426851.2_Silent_p.S102S	p.S102S	NM_170686.2	NP_733787.1	Q8TD17	ZN398_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00143)		6	1094	+	Melanoma(164;0.15)		273					A8K384|B4E377|Q8TD18|Q9P2K7|Q9UDV8	Silent	SNP	ENST00000475153.1	37	c.306G>A	CCDS5894.1																																																																																				0.463	ZNF398-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352722.2			21	140	0	0	0	1	0	21	140					A	148875783	G	A	148875783	2	1	286	1	0	0	0	0	0	0	0	1	17882	1132	40	1		1	ZNF398	7	148875783	Silent	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	18854175	148875783	10262880	282	13412											
LRRC61	65999	broad.mit.edu	37	chr7	150034682	150034682	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agcgacagcctggcccaggcGgagcaggtactcagctctgc	8	5	14	14	2	2	0	1	0	1	0	2	2	2	1	2	4	6	3	2	4	1	1			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr7:150034682G>A	ENST00000359623.4	+	3	1320	c.732G>A	c.(730-732)gcG>gcA	p.A244A	LRRC61_ENST00000323078.7_Silent_p.A244A|LRRC61_ENST00000493307.1_Silent_p.A244A	NM_001142928.1	NP_001136400.1	Q9BV99	LRC61_HUMAN	leucine rich repeat containing 61	244										endometrium(2)|large_intestine(1)|skin(1)|upper_aerodigestive_tract(1)	5			OV - Ovarian serous cystadenocarcinoma(82;0.011)			TGGCCCAGGCGGAGCAGGTAC	0.677																																						ENST00000359623.4																			0				endometrium(2)|large_intestine(1)|skin(1)|upper_aerodigestive_tract(1)	5						c.(730-732)gcG>gcA		leucine rich repeat containing 61							15	16	16					7																	150034682		2148	4207	6355	SO:0001819	synonymous_variant	65999							g.chr7:150034682G>A	BC001354	CCDS5901.1	7q31-q35	2006-02-07			ENSG00000127399	ENSG00000127399			21704	protein-coding gene	gene with protein product							Standard	NM_023942		Approved	MGC3036, FLJ31392, HSPC295	uc003wgv.4	Q9BV99	OTTHUMG00000158326	ENST00000359623.4:c.732G>A	7.37:g.150034682G>A						LRRC61_ENST00000493307.1_Silent_p.A244A|LRRC61_ENST00000323078.7_Silent_p.A244A	p.A244A	NM_001142928.1	NP_001136400.1	Q9BV99	LRC61_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.011)		3	1320	+			244					B3KUW0|D3DWY8	Silent	SNP	ENST00000359623.4	37	c.732G>A	CCDS5901.1																																																																																				0.677	LRRC61-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350696.1	NM_023942		4	32	0	0	0	1	0	4	32					A	150034682	G	A	150034682	2	1	286	1	0	0	0	0	0	0	0	1	9017	1103	39	2		2	LRRC61	7	150034682	Silent	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	1158899	150034682	9103981	283	13413											
GIMAP1	170575	broad.mit.edu	37	chr7	150417944	150417944	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggccctgctgctggggggCgcgctcctgttctgggtgct	0	11	17	13	2	1	0	0	0	1	0	2	0	2	0	2	5	3	5	2	5	0	1			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr7:150417944C>T	ENST00000307194.5	+	3	992	c.852C>T	c.(850-852)ggC>ggT	p.G284G		NM_130759.3	NP_570115.1	Q8WWP7	GIMA1_HUMAN	GTPase, IMAP family member 1	284					B cell differentiation (GO:0030183)|T cell differentiation (GO:0030217)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	GTP binding (GO:0005525)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	28			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TGCTGGGGGGCGCGCTCCTGT	0.687																																						ENST00000307194.5																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	28						c.(850-852)ggC>ggT		GTPase, IMAP family member 1							9	10	10					7																	150417944		2000	4017	6017	SO:0001819	synonymous_variant	170575							g.chr7:150417944C>T	AJ306287	CCDS5906.1	7q36.1	2014-04-04			ENSG00000213203	ENSG00000213203		"GTPases, IMAP"	23237	protein-coding gene	gene with protein product	"immune-associated nucleotide-binding protein 2"	608084				15474311, 18701445	Standard	NM_130759		Approved	HIMAP1, IMAP38, IMAP1, IAN2		Q8WWP7	OTTHUMG00000157489	ENST00000307194.5:c.852C>T	7.37:g.150417944C>T							p.G284G	NM_130759.3	NP_570115.1			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	3	992	+								B2RCI3|Q8NAZ0	Silent	SNP	ENST00000307194.5	37	c.852C>T	CCDS5906.1																																																																																				0.687	GIMAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348951.2	NM_130759		4	16	0	0	0	1	0	4	16					T	150417944	C	T	150417944	2	4	286	1	0	0	0	0	0	0	0	1	6379	755	27	1		1	GIMAP1	7	150417944	Silent	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	383262	150417944	8720719	284	13414											
KCNH2	3757	broad.mit.edu	37	chr7	150656679	150656679	+	Frame_Shift_Del	DEL	G	G	-																															cctggggccagccagctggtGggggggccccggtggttggt																										TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr7:150656679delG	ENST00000262186.5	-	3	854	c.453delC	c.(451-453)cccfs	p.P151fs	KCNH2_ENST00000392968.2_Frame_Shift_Del_p.P55fs|KCNH2_ENST00000430723.3_Frame_Shift_Del_p.P151fs	NM_000238.3	NP_000229.1	Q12809	KCNH2_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 2	151					cardiac muscle contraction (GO:0060048)|cellular response to drug (GO:0035690)|membrane depolarization during action potential (GO:0086010)|membrane repolarization during action potential (GO:0086011)|membrane repolarization during cardiac muscle cell action potential (GO:0086013)|negative regulation of potassium ion export (GO:1902303)|negative regulation of potassium ion transmembrane transport (GO:1901380)|positive regulation of potassium ion transmembrane transport (GO:1901381)|potassium ion export (GO:0071435)|potassium ion homeostasis (GO:0055075)|potassium ion transmembrane transport (GO:0071805)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of heart rate by hormone (GO:0003064)|regulation of membrane potential (GO:0042391)|regulation of membrane repolarization (GO:0060306)|regulation of potassium ion transmembrane transport (GO:1901379)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|synaptic transmission (GO:0007268)|ventricular cardiac muscle cell action potential (GO:0086005)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|identical protein binding (GO:0042802)|inward rectifier potassium channel activity (GO:0005242)|phosphorelay sensor kinase activity (GO:0000155)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization (GO:1902282)	p.T152fs*180(1)		NS(1)|cervix(1)|endometrium(10)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	42	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Alfuzosin(DB00346)|Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Cisapride(DB00604)|Dofetilide(DB00204)|Doxazosin(DB00590)|Doxepin(DB01142)|Dronedarone(DB04855)|Halofantrine(DB01218)|Ibutilide(DB00308)|Imipramine(DB00458)|Miconazole(DB01110)|Pimozide(DB01100)|Prazosin(DB00457)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terazosin(DB01162)|Thioridazine(DB00679)|Verapamil(DB00661)	GCCAGCTGGTGGGGGGGCCCC	0.587																																					GBM(137;110 1844 13671 20123 45161)	ENST00000392968.2																			1	Insertion - Frameshift(1)	p.T152fs*180(1)	large_intestine(1)	NS(1)|cervix(1)|endometrium(10)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	42	GRCh37	CD001499	KCNH2	D		c.(163-165)ccfs		potassium voltage-gated channel, subfamily H (eag-related), member 2	Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Cisapride(DB00604)|Dofetilide(DB00204)|Halofantrine(DB01218)|Ibutilide(DB00308)|Pimozide(DB01100)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terfenadine(DB00342)|Verapamil(DB00661)						52	51	51					7																	150656679		2203	4300	6503	SO:0001589	frameshift_variant	3757				blood circulation|muscle contraction|regulation of heart contraction|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|two-component sensor activity	g.chr7:150656679delG	U04270	CCDS5910.1, CCDS5911.1	7q36.1	2014-09-17			ENSG00000055118	ENSG00000055118		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6251	protein-coding gene	gene with protein product		152427		LQT2		18616963, 7842012, 8159766, 16382104	Standard	NM_000238		Approved	Kv11.1, HERG, erg1	uc003wic.3	Q12809	OTTHUMG00000158341	ENST00000262186.5:c.453delC	7.37:g.150656679delG	ENSP00000262186:p.Pro151fs					KCNH2_ENST00000430723.3_Frame_Shift_Del_p.P151fs|KCNH2_ENST00000262186.5_Frame_Shift_Del_p.P151fs	p.P55fs			Q12809	KCNH2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	1	1285	-	all_neural(206;0.219)		151			PAS.		A5H1P7|C4PFH9|D3DX04|O75418|O75680|Q708S9|Q9BT72|Q9BUT7|Q9H3P0	Frame_Shift_Del	DEL	ENST00000262186.5	37	c.165delC	CCDS5910.1																																																																																				0.587	KCNH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350741.2	NM_000238		7	63						7	63	---	---	---	---	-	150656679	G	-	150656679	7	5	286	1	0	1	0	1	0	0	0	0	8032	1335	47	0	3459	0	KCNH2	7	150656679	Frame_Shift_Del	DEL	G	TCGA-J9-A52C-01A-11D-A26M-08	238735	150656679	8481984	285	13415											
RP1L1	94137	broad.mit.edu	37	chr8	10467947	10467947	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cccctgtgtcaccagggtgcCgtccatggcacagggtacgc	6	7	13	15	2	1	0	1	0	0	0	2	0	2	0	5	3	2	2	5	3	1	1			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr8:10467947C>T	ENST00000382483.3	-	4	3884	c.3661G>A	c.(3661-3663)Ggc>Agc	p.G1221S		NM_178857.5	NP_849188.4	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	1221					cell projection organization (GO:0030030)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|visual perception (GO:0007601)	axoneme (GO:0005930)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|photoreceptor connecting cilium (GO:0032391)|photoreceptor outer segment (GO:0001750)				breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		ACCAGGGTGCCGTCCATGGCA	0.582																																						ENST00000382483.3																			0				breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148						c.(3661-3663)Ggc>Agc		retinitis pigmentosa 1-like 1							36	40	38					8																	10467947		2039	4182	6221	SO:0001583	missense	94137				intracellular signal transduction			g.chr8:10467947C>T	AY168346	CCDS43708.1	8p23.1	2011-12-06			ENSG00000183638	ENSG00000183638			15946	protein-coding gene	gene with protein product		608581				12634863	Standard	NM_178857		Approved	DCDC4B	uc003wtc.3	Q8IWN7	OTTHUMG00000163806	ENST00000382483.3:c.3661G>A	8.37:g.10467947C>T	ENSP00000371923:p.Gly1221Ser						p.G1221S	NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN		COAD - Colon adenocarcinoma(149;0.0811)	4	3884	-			1221					Q86SQ1|Q8IWN8|Q8IWN9|Q8IWP0|Q8IWP1|Q8IWP2	Missense_Mutation	SNP	ENST00000382483.3	37	c.3661G>A	CCDS43708.1	.	.	.	.	.	.	.	.	.	.	c	2.540	-0.306409	0.05458	.	.	ENSG00000183638	ENST00000382483	T	0.03801	3.8	4.68	-9.36	0.00629	.	1.247570	0.06092	N	0.663797	T	0.02380	0.0073	N	0.14661	0.345	0.09310	N	1	B	0.16166	0.016	B	0.06405	0.002	T	0.39187	-0.9626	10	0.08599	T	0.76	0.3829	9.976	0.41783	0.1276:0.4819:0.0:0.3904	.	1221	A6NKC6	.	S	1221	ENSP00000371923:G1221S	ENSP00000371923:G1221S	G	-	1	0	RP1L1	10505357	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.109000	0.10840	-3.706000	0.00118	-3.954000	0.00015	GGC		0.582	RP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375673.1			4	28	0	0	0	1	0	4	28					T	10467947	C	T	10467947	3	4	286	1	0	0	0	0	1	0	0	0	13533	652	23	2	3545	2	RP1L1	8	10467947	Missense_Mutation	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08		10467947	135896075	286	13416											
AMAC1L2	83650	broad.mit.edu	37	chr8	11189592	11189592	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cattgccatcattacagcccGgaacctcagctgtgagagga	11	8	10	12	1	2	1	2	1	0	1	2	4	2	3	3	2	5	1	3	2	2	2	rs540056808	byFrequency	TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr8:11189592G>A	ENST00000382435.4	+	1	1196	c.977G>A	c.(976-978)cGg>cAg	p.R326Q		NM_001282300.1|NM_054028.1	NP_001269229.1|NP_473369.1	Q96KT7	S35G5_HUMAN	solute carrier family 35, member G5	326						integral component of membrane (GO:0016021)		p.R326Q(1)									ATTACAGCCCGGAACCTCAGC	0.527													g|||	2	0.000399361	0	0	5008	,	,		17361	0.002		0	False		,,,				2504	0					ENST00000382435.4																			1	Substitution - Missense(1)	p.R326Q(1)	endometrium(1)								c.(976-978)cGg>cAg		solute carrier family 35, member G5							68	68	68					8																	11189592		2203	4300	6503	SO:0001583	missense	83650					integral to membrane		g.chr8:11189592G>A	AJ291677	CCDS5980.1	8p23.1	2013-05-22	2011-08-03	2011-08-03	ENSG00000177710	ENSG00000177710		"Solute carriers"	15546	protein-coding gene	gene with protein product		615199	"acyl-malonyl condensing enzyme 1-like 2"	AMAC, AMAC1L2			Standard	NM_054028		Approved		uc003wtp.1	Q96KT7	OTTHUMG00000090653	ENST00000382435.4:c.977G>A	8.37:g.11189592G>A	ENSP00000371872:p.Arg326Gln						p.R326Q	NM_054028.1	NP_473369.1	Q96KT7	AMCL2_HUMAN			1	1196	+			326					A2RRL6	Missense_Mutation	SNP	ENST00000382435.4	37	c.977G>A	CCDS5980.1	.	.	.	.	.	.	.	.	.	.	g	5.509	0.278884	0.10458	.	.	ENSG00000177710	ENST00000382435	T	0.69926	-0.44	.	.	.	.	0.165937	0.28236	N	0.016094	T	0.26159	0.0638	N	0.00538	-1.39	0.22292	N	0.999225	B	0.02656	0.0	B	0.01281	0.0	T	0.29761	-1.0001	8	0.27785	T	0.31	0.2542	.	.	.	.	326	Q96KT7	S35G5_HUMAN	Q	326	ENSP00000371872:R326Q	ENSP00000371872:R326Q	R	+	2	0	SLC35G5	11227002	0.028000	0.19301	0.290000	0.24890	0.291000	0.27294	0.376000	0.20535	0.064000	0.16427	0.064000	0.15345	CGG		0.527	SLC35G5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207313.2	NM_054028		5	63	0	0	0	1	0	5	63					A	11189592	G	A	11189592	3	1	286	1	0	0	0	0	1	0	0	0	560	1116	39	2	979	2	AMAC1L2	8	11189592	Missense_Mutation	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	721645	11189592	135174430	287	13417											
LGI3	203190	broad.mit.edu	37	chr8	22006441	22006441	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aacagctgggccacgaccacGtacagctggctgtccaccac	10	5	10	16	2	0	0	0	0	0	0	1	1	1	0	4	2	4	4	4	2	2	1	rs564844564		TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr8:22006441G>A	ENST00000306317.2	-	8	1168	c.879C>T	c.(877-879)taC>taT	p.Y293Y	LGI3_ENST00000424267.2_Silent_p.Y269Y	NM_139278.2	NP_644807.1	Q8N145	LGI3_HUMAN	leucine-rich repeat LGI family, member 3	293					exocytosis (GO:0006887)|regulation of exocytosis (GO:0017157)	cell junction (GO:0030054)|extracellular region (GO:0005576)|neuron projection (GO:0043005)|synaptic vesicle (GO:0008021)	catalytic activity (GO:0003824)			endometrium(4)|large_intestine(3)|lung(7)|ovary(1)|upper_aerodigestive_tract(2)	17				Colorectal(74;0.00189)|COAD - Colon adenocarcinoma(73;0.0612)|READ - Rectum adenocarcinoma(644;0.0999)		CCACGACCACGTACAGCTGGC	0.637													G|||	1	0.000199681	0	0	5008	,	,		20201	0		0.001	False		,,,				2504	0					ENST00000306317.2																			0				endometrium(4)|large_intestine(3)|lung(7)|ovary(1)|upper_aerodigestive_tract(2)	17						c.(877-879)taC>taT		leucine-rich repeat LGI family, member 3							52	46	48					8																	22006441		2203	4300	6503	SO:0001819	synonymous_variant	203190				exocytosis	cell junction|extracellular region|synaptic vesicle|synaptosome		g.chr8:22006441G>A	AJ487518	CCDS6025.1	8p21.2	2008-07-28			ENSG00000168481	ENSG00000168481			18711	protein-coding gene	gene with protein product		608302				12023020, 18628660	Standard	NM_139278		Approved		uc003xav.3	Q8N145	OTTHUMG00000131599	ENST00000306317.2:c.879C>T	8.37:g.22006441G>A						LGI3_ENST00000424267.2_Silent_p.Y269Y	p.Y293Y	NM_139278.2	NP_644807.1	Q8N145	LGI3_HUMAN		Colorectal(74;0.00189)|COAD - Colon adenocarcinoma(73;0.0612)|READ - Rectum adenocarcinoma(644;0.0999)	8	1168	-			293					A5PLP2|Q86TL4|Q8N296	Silent	SNP	ENST00000306317.2	37	c.879C>T	CCDS6025.1																																																																																				0.637	LGI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254482.1			3	29	0	0	0	1	0	3	29					A	22006441	G	A	22006441	2	1	286	1	0	0	0	0	0	0	0	1	8753	1140	40	1		1	LGI3	8	22006441	Silent	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	10816849	22006441	124357581	288	13418											
RHOBTB2	23221	broad.mit.edu	37	chr8	22862016	22862016	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgcgttgtggtgggggacaaCgccgtgggtaagaccaggct	7	8	18	8	3	0	1	0	0	0	1	0	2	0	2	2	5	2	3	2	5	2	2			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr8:22862016C>T	ENST00000251822.6	+	2	606	c.69C>T	c.(67-69)aaC>aaT	p.N23N	RHOBTB2_ENST00000522948.1_Silent_p.N30N|RP11-875O11.1_ENST00000523884.1_RNA|RHOBTB2_ENST00000523918.1_3'UTR|RP11-875O11.1_ENST00000502083.2_RNA|RHOBTB2_ENST00000519685.1_Silent_p.N45N	NM_015178.2	NP_055993.2	Q9BYZ6	RHBT2_HUMAN	Rho-related BTB domain containing 2	23	Rho-like.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	31		Prostate(55;0.0513)|Breast(100;0.214)		Colorectal(74;0.0157)|COAD - Colon adenocarcinoma(73;0.064)		TGGGGGACAACGCCGTGGGTA	0.587											OREG0018628	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000251822.6																			0				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	31						c.(67-69)aaC>aaT		Rho-related BTB domain containing 2							139	105	117					8																	22862016		2203	4300	6503	SO:0001819	synonymous_variant	23221				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding	g.chr8:22862016C>T	AF315385	CCDS6034.1, CCDS55210.1, CCDS55211.1	8p21.2	2013-01-08			ENSG00000008853	ENSG00000008853		"BTB/POZ domain containing"	18756	protein-coding gene	gene with protein product		607352				11222756	Standard	NM_001160036		Approved	KIAA0717, DBC2	uc011kzp.1	Q9BYZ6	OTTHUMG00000097827	ENST00000251822.6:c.69C>T	8.37:g.22862016C>T			OREG0018628	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	759	RP11-875O11.1_ENST00000523884.1_RNA|RHOBTB2_ENST00000519685.1_Silent_p.N45N|RHOBTB2_ENST00000523918.1_3'UTR|RHOBTB2_ENST00000522948.1_Silent_p.N30N	p.N23N	NM_015178.2	NP_055993.2	Q9BYZ6	RHBT2_HUMAN		Colorectal(74;0.0157)|COAD - Colon adenocarcinoma(73;0.064)	2	606	+		Prostate(55;0.0513)|Breast(100;0.214)	23			Rho-like.		A8K9Z8|D3DSR8|E9PBU2|E9PEI7|O94825|Q8N4A8|Q9BZK6	Silent	SNP	ENST00000251822.6	37	c.69C>T	CCDS6034.1																																																																																				0.587	RHOBTB2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000215101.2			14	53	0	0	0	1	0	14	53					T	22862016	C	T	22862016	2	4	286	1	0	0	0	0	0	0	0	1	13334	535	19	1		1	RHOBTB2	8	22862016	Silent	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	855575	22862016	123502006	289	13419											
DOCK5	80005	broad.mit.edu	37	chr8	25174561	25174561	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tttatgtcaccctgatccacGgtgagtttgacaaagggaag	11	11	11	8	1	1	3	1	3	0	0	2	4	2	4	2	2	0	1	2	2	3	3			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr8:25174561G>A	ENST00000276440.7	+	14	1401	c.1357G>A	c.(1357-1359)Ggt>Agt	p.G453S		NM_024940.6	NP_079216.4	Q9H7D0	DOCK5_HUMAN	dedicator of cytokinesis 5	453	DHR-1.				positive regulation of GTPase activity (GO:0043547)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)		CCTGATCCACGGTGAGTTTGA	0.488																																					Pancreas(145;34 1887 3271 10937 30165)	ENST00000276440.7																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72						c.(1357-1359)Ggt>Agt		dedicator of cytokinesis 5							185	149	161					8																	25174561		2203	4300	6503	SO:0001583	missense	80005					cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	g.chr8:25174561G>A		CCDS6047.1	8p21.2	2009-04-17			ENSG00000147459	ENSG00000147459			23476	protein-coding gene	gene with protein product						12432077	Standard	NM_024940		Approved	FLJ21034	uc003xeg.3	Q9H7D0	OTTHUMG00000131991	ENST00000276440.7:c.1357G>A	8.37:g.25174561G>A	ENSP00000276440:p.Gly453Ser						p.G453S	NM_024940.6	NP_079216.4	Q9H7D0	DOCK5_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)	14	1401	+		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)	453			DHR-1.		B2RNY0|Q5XKD5|Q6AI11|Q6PJS6|Q6ZTS6	Missense_Mutation	SNP	ENST00000276440.7	37	c.1357G>A	CCDS6047.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	36|36	5.695598|5.695598	0.96802|0.96802	.|.	.|.	ENSG00000147459|ENSG00000147459	ENST00000276440|ENST00000444569	T|.	0.15017|.	2.46|.	5.49|5.49	5.49|5.49	0.81192|0.81192	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.87200|0.87200	0.6118|0.6118	M|M	0.93638|0.93638	3.44|3.44	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	1.0;1.0;1.0|.	D;D;D|.	0.91635|.	0.999;0.999;0.999|.	D|D	0.90163|0.90163	0.4229|0.4229	10|5	0.87932|.	D|.	0|.	.|.	19.4741|19.4741	0.94979|0.94979	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	443;228;453|.	D3DSS6;Q68DL4;Q9H7D0|.	.;.;DOCK5_HUMAN|.	S|Q	453|224	ENSP00000276440:G453S|.	ENSP00000276440:G453S|.	G|R	+|+	1|2	0|0	DOCK5|DOCK5	25230478|25230478	1.000000|1.000000	0.71417|0.71417	0.475000|0.475000	0.27278|0.27278	0.981000|0.981000	0.71138|0.71138	9.865000|9.865000	0.99609|0.99609	2.601000|2.601000	0.87937|0.87937	0.650000|0.650000	0.86243|0.86243	GGT|CGG		0.488	DOCK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254955.2	NM_024940		15	80	0	0	0	1	0	15	80					A	25174561	G	A	25174561	3	1	286	1	0	0	0	0	1	0	0	0	4690	1116	39	2	1411	2	DOCK5	8	25174561	Missense_Mutation	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	2312545	25174561	121189461	290	13420											
PTK2B	2185	broad.mit.edu	37	chr8	27310662	27310662	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gggcccccacagaagcccccGaggctgggcgcacaggtatg	8	3	15	15	2	0	1	0	0	0	1	0	2	0	1	4	4	1	3	4	4	2	1			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr8:27310662G>A	ENST00000397501.1	+	33	3388	c.2580G>A	c.(2578-2580)ccG>ccA	p.P860P	PTK2B_ENST00000346049.5_Silent_p.P860P|PTK2B_ENST00000420218.2_Silent_p.P818P|PTK2B_ENST00000544172.1_Silent_p.P860P|PTK2B_ENST00000517339.1_Silent_p.P818P|PTK2B_ENST00000338238.4_Silent_p.P818P	NM_173174.2	NP_775266.1	Q14289	FAK2_HUMAN	protein tyrosine kinase 2 beta	860	Interaction with TGFB1I1. {ECO:0000250}.|Pro-rich.				activation of Janus kinase activity (GO:0042976)|activation of Rac GTPase activity (GO:0032863)|apoptotic process (GO:0006915)|blood vessel endothelial cell migration (GO:0043534)|bone resorption (GO:0045453)|cell surface receptor signaling pathway (GO:0007166)|cellular defense response (GO:0006968)|cellular response to retinoic acid (GO:0071300)|chemokine-mediated signaling pathway (GO:0070098)|epidermal growth factor receptor signaling pathway (GO:0007173)|focal adhesion assembly (GO:0048041)|glial cell proliferation (GO:0014009)|integrin-mediated signaling pathway (GO:0007229)|ionotropic glutamate receptor signaling pathway (GO:0035235)|long-term synaptic potentiation (GO:0060291)|MAPK cascade (GO:0000165)|marginal zone B cell differentiation (GO:0002315)|negative regulation of apoptotic process (GO:0043066)|negative regulation of bone mineralization (GO:0030502)|negative regulation of cell proliferation (GO:0008285)|negative regulation of muscle cell apoptotic process (GO:0010656)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of potassium ion transport (GO:0043267)|neuron projection development (GO:0031175)|oocyte maturation (GO:0001556)|peptidyl-tyrosine autophosphorylation (GO:0038083)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of B cell chemotaxis (GO:2000538)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein complex assembly (GO:0006461)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of cell adhesion (GO:0030155)|regulation of cell shape (GO:0008360)|regulation of establishment of cell polarity (GO:2000114)|regulation of inositol trisphosphate biosynthetic process (GO:0032960)|regulation of macrophage chemotaxis (GO:0010758)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000058)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|response to calcium ion (GO:0051592)|response to cAMP (GO:0051591)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to hormone (GO:0009725)|response to hydrogen peroxide (GO:0042542)|response to hypoxia (GO:0001666)|response to lithium ion (GO:0010226)|response to mechanical stimulus (GO:0009612)|response to osmotic stress (GO:0006970)|response to stress (GO:0006950)|signal complex assembly (GO:0007172)|signal transduction (GO:0007165)|sprouting angiogenesis (GO:0002040)|stress fiber assembly (GO:0043149)|tumor necrosis factor-mediated signaling pathway (GO:0033209)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	apical dendrite (GO:0097440)|axon (GO:0030424)|cell body (GO:0044297)|cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|membrane raft (GO:0045121)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|postsynaptic density (GO:0014069)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)|signal transducer activity (GO:0004871)			breast(2)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(17)|ovary(4)|skin(12)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Ovarian(32;2.72e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|Epithelial(17;6.61e-10)|BRCA - Breast invasive adenocarcinoma(99;0.226)|Colorectal(74;0.229)	Leflunomide(DB01097)	AGAAGCCCCCGAGGCTGGGCG	0.522																																						ENST00000397501.1																			0				breast(2)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(17)|ovary(4)|skin(12)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	47						c.(2578-2580)ccG>ccA		protein tyrosine kinase 2 beta							61	66	64					8																	27310662		2203	4300	6503	SO:0001819	synonymous_variant	2185				apoptosis|bone resorption|positive regulation of cell proliferation|signal complex assembly	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|signal transducer activity	g.chr8:27310662G>A	U33284	CCDS6057.1, CCDS6058.1	8p21.1	2013-02-18	2013-02-18		ENSG00000120899	ENSG00000120899			9612	protein-coding gene	gene with protein product		601212	"protein tyrosine kinase 2 beta", "PTK2B protein tyrosine kinase 2 beta"	FAK2		7544443, 7499242	Standard	NM_173174		Approved	CAKB, PYK2, RAFTK, PTK, CADTK	uc003xfp.2	Q14289	OTTHUMG00000102082	ENST00000397501.1:c.2580G>A	8.37:g.27310662G>A						PTK2B_ENST00000544172.1_Silent_p.P860P|PTK2B_ENST00000420218.2_Silent_p.P818P|PTK2B_ENST00000346049.5_Silent_p.P860P|PTK2B_ENST00000338238.4_Silent_p.P818P|PTK2B_ENST00000517339.1_Silent_p.P818P	p.P860P	NM_173174.2	NP_775266.1	Q14289	FAK2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|Epithelial(17;6.61e-10)|BRCA - Breast invasive adenocarcinoma(99;0.226)|Colorectal(74;0.229)	33	3388	+		Ovarian(32;2.72e-05)	860			Interaction with TGFB1I1 (By similarity).|Pro-rich.		D3DST0|Q13475|Q14290|Q16709|Q6PID4	Silent	SNP	ENST00000397501.1	37	c.2580G>A	CCDS6057.1																																																																																				0.522	PTK2B-009	PUTATIVE	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219916.1	NM_004103		8	49	0	0	0	1	0	8	49					A	27310662	G	A	27310662	2	1	286	1	0	0	0	0	0	0	0	1	12763	1045	37	2		2	PTK2B	8	27310662	Silent	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	2136101	27310662	119053360	291	13421											
HTRA4	203100	broad.mit.edu	37	chr8	38835668	38835668	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gattgatgccacaattaatgTaagtcacttaggacagaggt	14	11	10	6	0	1	2	1	1	0	1	1	4	1	3	1	2	1	1	1	2	4	4			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr8:38835668T>C	ENST00000302495.4	+	4	1066		c.e4+2			NM_153692.3	NP_710159.1	P83105	HTRA4_HUMAN	HtrA serine peptidase 4						negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|proteolysis (GO:0006508)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)	endopeptidase activity (GO:0004175)|serine-type endopeptidase activity (GO:0004252)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|upper_aerodigestive_tract(1)	11		all_lung(54;0.0344)|Hepatocellular(245;0.0512)|Lung NSC(58;0.0955)	LUSC - Lung squamous cell carcinoma(45;1.5e-07)			ACAATTAATGTAAGTCACTTA	0.537																																						ENST00000302495.4																			0				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|upper_aerodigestive_tract(1)	11						c.e4+2		HtrA serine peptidase 4							69	61	64					8																	38835668		2203	4300	6503	SO:0001630	splice_region_variant	203100				proteolysis|regulation of cell growth	extracellular region	insulin-like growth factor binding|serine-type endopeptidase activity	g.chr8:38835668T>C	AK075205	CCDS6110.1	8p11.23	2008-02-05			ENSG00000169495	ENSG00000169495			26909	protein-coding gene	gene with protein product		610700					Standard	NM_153692		Approved	FLJ90724	uc003xmj.3	P83105	OTTHUMG00000164070	ENST00000302495.4:c.966+2T>C	8.37:g.38835668T>C								NM_153692.3	NP_710159.1	P83105	HTRA4_HUMAN	LUSC - Lung squamous cell carcinoma(45;1.5e-07)		4	1066	+		all_lung(54;0.0344)|Hepatocellular(245;0.0512)|Lung NSC(58;0.0955)						Q542Z4|Q6PF13	Splice_Site	SNP	ENST00000302495.4	37		CCDS6110.1	.	.	.	.	.	.	.	.	.	.	T	15.93	2.979253	0.53827	.	.	ENSG00000169495	ENST00000302495	.	.	.	5.77	5.77	0.91146	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.0705	0.72034	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	HTRA4	38954825	1.000000	0.71417	1.000000	0.80357	0.423000	0.31445	6.191000	0.72063	2.199000	0.70637	0.533000	0.62120	.		0.537	HTRA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377077.1	NM_153692	Intron	5	14	0	0	0	1	0	5	14					C	38835668	T	C	38835668	5	2	286	1	0	0	0	0	0	0	1	0	7456	1652	57	4	982	4	HTRA4	8	38835668	Splice_Site	SNP	T	TCGA-J9-A52C-01A-11D-A26M-08	11525006	38835668	107528354	292	13422											
ANK1	286	broad.mit.edu	37	chr8	41525928	41525928	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tacagacaccaggaccttctCgtactcctgagatccaccgg	10	8	8	15	2	1	2	0	1	1	2	4	4	3	3	5	2	2	1	5	2	2	3	rs142163190		TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr8:41525928C>T	ENST00000347528.4	-	39	5334	c.5251G>A	c.(5251-5253)Gag>Aag	p.E1751K	ANK1_ENST00000396945.1_Missense_Mutation_p.E1751K|ANK1_ENST00000396942.1_Missense_Mutation_p.E1751K|ANK1_ENST00000379758.2_Missense_Mutation_p.E1751K|ANK1_ENST00000352337.4_Missense_Mutation_p.E1751K|ANK1_ENST00000265709.8_Missense_Mutation_p.E1792K|ANK1_ENST00000289734.7_Missense_Mutation_p.E1751K|RP11-930P14.1_ENST00000522388.1_RNA	NM_020475.2|NM_020476.2|NM_020477.2	NP_065208.2|NP_065209.2|NP_065210.2	P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	1751	55 kDa regulatory domain.				axon guidance (GO:0007411)|cytoskeleton organization (GO:0007010)|ER to Golgi vesicle-mediated transport (GO:0006888)|erythrocyte development (GO:0048821)|exocytosis (GO:0006887)|maintenance of epithelial cell apical/basal polarity (GO:0045199)|monovalent inorganic cation transport (GO:0015672)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of organelle organization (GO:0010638)|protein targeting to plasma membrane (GO:0072661)|signal transduction (GO:0007165)	axolemma (GO:0030673)|basolateral plasma membrane (GO:0016323)|cortical cytoskeleton (GO:0030863)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|M band (GO:0031430)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|cytoskeletal adaptor activity (GO:0008093)|enzyme binding (GO:0019899)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			AGGACCTTCTCGTACTCCTGA	0.582																																						ENST00000396942.1																			0				breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122						c.(5251-5253)Gag>Aag		ankyrin 1, erythrocytic							149	113	125					8																	41525928		2203	4300	6503	SO:0001583	missense	286				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton	g.chr8:41525928C>T	M28880	CCDS6119.1, CCDS6121.1, CCDS6122.1, CCDS47849.1, CCDS55227.1	8p11.21	2013-01-10			ENSG00000029534	ENSG00000029534		"Ankyrin repeat domain containing"	492	protein-coding gene	gene with protein product		612641		ANK		1689849	Standard	NM_001142445		Approved	SPH1	uc003xom.3	P16157	OTTHUMG00000150281	ENST00000347528.4:c.5251G>A	8.37:g.41525928C>T	ENSP00000339620:p.Glu1751Lys					ANK1_ENST00000265709.8_Missense_Mutation_p.E1792K|ANK1_ENST00000379758.2_Missense_Mutation_p.E1751K|ANK1_ENST00000396945.1_Missense_Mutation_p.E1751K|ANK1_ENST00000352337.4_Missense_Mutation_p.E1751K|ANK1_ENST00000289734.7_Missense_Mutation_p.E1751K|ANK1_ENST00000347528.4_Missense_Mutation_p.E1751K	p.E1751K			P16157	ANK1_HUMAN	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)		39	5334	-	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	1751			55 kDa regulatory domain.		A0PJN8|A6NJ23|E5RFL7|O43400|Q13768|Q53ER1|Q59FP2|Q8N604|Q99407	Missense_Mutation	SNP	ENST00000347528.4	37	c.5251G>A	CCDS6119.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	0.032|0.032	-1.328242|-1.328242	0.01309|0.01309	.|.	.|.	ENSG00000029534|ENSG00000029534	ENST00000347528;ENST00000289734;ENST00000379758;ENST00000396945;ENST00000396942;ENST00000352337;ENST00000265709|ENST00000520299	T;T;T;T;T;T;T|.	0.68903|.	-0.25;-0.24;-0.22;-0.36;-0.23;-0.24;-0.24|.	3.95|3.95	2.15|2.15	0.27550|0.27550	.|.	1.328570|.	0.05045|.	N|.	0.476984|.	T|T	0.25195|0.25195	0.0612|0.0612	N|N	0.22421|0.22421	0.69|0.69	0.09310|0.09310	N|N	1|1	B;B;B;B;B;B|.	0.12013|.	0.002;0.001;0.001;0.001;0.005;0.003|.	B;B;B;B;B;B|.	0.08055|.	0.002;0.001;0.0;0.001;0.003;0.001|.	T|T	0.23084|0.23084	-1.0198|-1.0198	10|5	0.19147|.	T|.	0.46|.	.|.	8.0318|8.0318	0.30470|0.30470	0.0:0.8075:0.0:0.1925|0.0:0.8075:0.0:0.1925	.|.	1792;1589;1751;1751;1751;905|.	P16157-21;P16157-4;P16157;P16157-5;P16157-3;B3KX39|.	.;.;ANK1_HUMAN;.;.;.|.	K|Q	1751;1751;1751;1751;1751;1751;1792|910	ENSP00000339620:E1751K;ENSP00000289734:E1751K;ENSP00000369082:E1751K;ENSP00000380149:E1751K;ENSP00000380147:E1751K;ENSP00000309131:E1751K;ENSP00000265709:E1792K|.	ENSP00000265709:E1792K|.	E|R	-|-	1|2	0|0	ANK1|ANK1	41645085|41645085	0.022000|0.022000	0.18835|0.18835	0.003000|0.003000	0.11579|0.11579	0.001000|0.001000	0.01503|0.01503	1.311000|1.311000	0.33562|0.33562	0.476000|0.476000	0.27440|0.27440	-0.671000|-0.671000	0.03813|0.03813	GAG|CGA		0.582	ANK1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317297.1	NM_020475		11	59	0	0	0	1	0	11	59					T	41525928	C	T	41525928	3	4	286	1	0	0	0	0	1	0	0	0	620	893	31	2	736	2	ANK1	8	41525928	Missense_Mutation	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	2690260	41525928	104838094	293	13423											
PDE7A	5150	broad.mit.edu	37	chr8	66753717	66753717	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	accggcctgtccaggggcagTaccggcagctggtaacacac	9	5	13	14	2	0	0	0	0	0	0	1	0	1	0	4	5	3	5	4	5	2	2			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr8:66753717T>C	ENST00000401827.3	-	1	470	c.27A>G	c.(25-27)gtA>gtG	p.V9V	CTD-2532N20.1_ENST00000607622.1_lincRNA|PDE7A_ENST00000396642.3_Silent_p.V9V	NM_001242318.2	NP_001229247.1	Q13946	PDE7A_HUMAN	phosphodiesterase 7A	9					cAMP catabolic process (GO:0006198)|signal transduction (GO:0007165)	cytosol (GO:0005829)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|metal ion binding (GO:0046872)			large_intestine(5)|lung(3)|stomach(1)|urinary_tract(1)	10			Epithelial(68;0.0509)|BRCA - Breast invasive adenocarcinoma(89;0.111)|all cancers(69;0.168)|OV - Ovarian serous cystadenocarcinoma(28;0.238)		Caffeine(DB00201)|Dyphylline(DB00651)|Ketotifen(DB00920)	CCAGGGGCAGTACCGGCAGCT	0.731																																						ENST00000401827.3																			0				large_intestine(5)|lung(3)|stomach(1)|urinary_tract(1)	10						c.(25-27)gtA>gtG		phosphodiesterase 7A	Dyphylline(DB00651)|Ketotifen(DB00920)						14	19	17					8																	66753717		1949	4139	6088	SO:0001819	synonymous_variant	5150					cell fraction|cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding	g.chr8:66753717T>C	L12052	CCDS34901.1, CCDS56538.1	8q13	2008-03-18				ENSG00000205268	3.1.4.17	"Phosphodiesterases"	8791	protein-coding gene	gene with protein product		171885				8389765, 9521885	Standard	NM_001242318		Approved	HCP1	uc003xvq.3	Q13946		ENST00000401827.3:c.27A>G	8.37:g.66753717T>C						PDE7A_ENST00000396642.3_Silent_p.V9V	p.V9V	NM_001242318.2	NP_001229247.1	Q13946	PDE7A_HUMAN	Epithelial(68;0.0509)|BRCA - Breast invasive adenocarcinoma(89;0.111)|all cancers(69;0.168)|OV - Ovarian serous cystadenocarcinoma(28;0.238)		1	470	-			9					A0AVH6|A8K436|A8K9G5|O15380|Q96T72	Silent	SNP	ENST00000401827.3	37	c.27A>G	CCDS56538.1																																																																																				0.731	PDE7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378905.1			4	22	0	0	0	1	0	4	22					C	66753717	T	C	66753717	2	2	286	1	0	0	0	0	0	0	0	1	11651	1625	57	4		4	PDE7A	8	66753717	Silent	SNP	T	TCGA-J9-A52C-01A-11D-A26M-08	25227789	66753717	79610305	294	13424											
KIAA1429	25962	broad.mit.edu	37	chr8	95502188	95502188	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgtagaactaaggggtcgtaAtggtggaagagggcctctgt	10	10	16	5	1	1	2	0	0	1	2	2	3	1	3	1	5	1	2	1	5	5	3			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr8:95502188A>G	ENST00000297591.5	-	23	5338	c.5263T>C	c.(5263-5265)Tta>Cta	p.L1755L	KIAA1429_ENST00000437199.1_3'UTR	NM_015496.4	NP_056311.2	Q69YN4	VIR_HUMAN	KIAA1429	1755					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(16)|lung(28)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	66	Breast(36;3.29e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00185)			AGGGGTCGTAATGGTGGAAGA	0.418																																						ENST00000297591.5																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(16)|lung(28)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	66						c.(5263-5265)Tta>Cta		KIAA1429							119	111	114					8																	95502188		2203	4300	6503	SO:0001819	synonymous_variant	25962				mRNA processing|RNA splicing	nucleus		g.chr8:95502188A>G	AB037850	CCDS34923.1, CCDS47894.1	8q22.1	2008-11-25			ENSG00000164944	ENSG00000164944			24500	protein-coding gene	gene with protein product	"functional spliceosome-associated protein 121"					10718198	Standard	NM_015496		Approved	DKFZP434I116, fSAP121	uc003ygo.2	Q69YN4	OTTHUMG00000164426	ENST00000297591.5:c.5263T>C	8.37:g.95502188A>G						KIAA1429_ENST00000437199.1_3'UTR	p.L1755L	NM_015496.4	NP_056311.2	Q69YN4	VIR_HUMAN	BRCA - Breast invasive adenocarcinoma(8;0.00185)		23	5338	-	Breast(36;3.29e-05)		1755					Q2M1N0|Q6AHX9|Q6NT78|Q7Z6C7|Q8IXH4|Q9BTH4|Q9H9C9|Q9NWR3|Q9P2B8|Q9UFW1	Silent	SNP	ENST00000297591.5	37	c.5263T>C	CCDS34923.1																																																																																				0.418	KIAA1429-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378720.2	NM_015496		13	36	0	0	0	1	0	13	36					G	95502188	A	G	95502188	2	3	286	1	0	0	0	0	0	0	0	1	8231	98	4	4		4	KIAA1429	8	95502188	Silent	SNP	A	TCGA-J9-A52C-01A-11D-A26M-08	28748471	95502188	50861834	295	13425											
SNX31	169166	broad.mit.edu	37	chr8	101586126	101586126	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcctttatgttcccaaaaacGcagtcatctttagctatctt	10	16	4	11	1	3	0	1	0	2	0	5	0	5	0	2	0	2	3	2	0	5	7			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr8:101586126G>A	ENST00000311812.2	-	14	1440	c.1290C>T	c.(1288-1290)tgC>tgT	p.C430C	SNX31_ENST00000428383.2_Silent_p.C331C	NM_152628.3	NP_689841.3	Q8N9S9	SNX31_HUMAN	sorting nexin 31	430					protein transport (GO:0015031)	protein complex (GO:0043234)	phosphatidylinositol binding (GO:0035091)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|prostate(1)|skin(3)|urinary_tract(1)	26	all_cancers(14;4.01e-05)|all_epithelial(15;1.26e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125)		Epithelial(11;1.21e-11)|all cancers(13;2.62e-09)|OV - Ovarian serous cystadenocarcinoma(57;3.22e-06)|STAD - Stomach adenocarcinoma(118;0.206)			TCCCAAAAACGCAGTCATCTT	0.348																																						ENST00000311812.2																			0				NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|prostate(1)|skin(3)|urinary_tract(1)	26						c.(1288-1290)tgC>tgT		sorting nexin 31							134	132	133					8																	101586126		2202	4298	6500	SO:0001819	synonymous_variant	169166				cell communication|protein transport		phosphatidylinositol binding	g.chr8:101586126G>A		CCDS6288.1	8q22.3	2011-05-03			ENSG00000174226	ENSG00000174226		"Sorting nexins"	28605	protein-coding gene	gene with protein product						16782399	Standard	NM_152628		Approved	MGC39715	uc003yjr.3	Q8N9S9	OTTHUMG00000164725	ENST00000311812.2:c.1290C>T	8.37:g.101586126G>A						SNX31_ENST00000428383.2_Silent_p.C331C	p.C430C	NM_152628.3	NP_689841.3	Q8N9S9	SNX31_HUMAN	Epithelial(11;1.21e-11)|all cancers(13;2.62e-09)|OV - Ovarian serous cystadenocarcinoma(57;3.22e-06)|STAD - Stomach adenocarcinoma(118;0.206)		14	1440	-	all_cancers(14;4.01e-05)|all_epithelial(15;1.26e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125)		430					C9J6L9|Q8N0U9	Silent	SNP	ENST00000311812.2	37	c.1290C>T	CCDS6288.1	.	.	.	.	.	.	.	.	.	.	G	8.031	0.761855	0.15914	.	.	ENSG00000174226	ENST00000518342	.	.	.	5.51	-0.287	0.12858	.	.	.	.	.	T	0.43612	0.1255	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.24297	-1.0164	4	.	.	.	-0.3712	3.607	0.08046	0.4822:0.0:0.3479:0.1699	.	.	.	.	V	38	.	.	A	-	2	0	SNX31	101655302	0.007000	0.16637	0.937000	0.37676	0.926000	0.56050	0.161000	0.16481	0.067000	0.16545	-0.484000	0.04775	GCG		0.348	SNX31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379910.1	NM_152628		3	26	0	0	0	1	0	3	26					A	101586126	G	A	101586126	2	1	286	1	0	0	0	0	0	0	0	1	14901	1079	38	1		1	SNX31	8	101586126	Silent	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	6083938	101586126	44777896	296	13426											
SNX31	169166	broad.mit.edu	37	chr8	101661556	101661556	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accctgcagaagaggaacccGtccaggtgcacggagtacag	12	4	13	12	2	0	2	0	0	0	2	1	4	1	4	3	3	4	3	3	3	3	1			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr8:101661556G>A	ENST00000311812.2	-	2	237	c.87C>T	c.(85-87)gaC>gaT	p.D29D		NM_152628.3	NP_689841.3	Q8N9S9	SNX31_HUMAN	sorting nexin 31	29	PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.				protein transport (GO:0015031)	protein complex (GO:0043234)	phosphatidylinositol binding (GO:0035091)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|prostate(1)|skin(3)|urinary_tract(1)	26	all_cancers(14;4.01e-05)|all_epithelial(15;1.26e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125)		Epithelial(11;1.21e-11)|all cancers(13;2.62e-09)|OV - Ovarian serous cystadenocarcinoma(57;3.22e-06)|STAD - Stomach adenocarcinoma(118;0.206)			AGAGGAACCCGTCCAGGTGCA	0.627																																						ENST00000311812.2																			0				NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|prostate(1)|skin(3)|urinary_tract(1)	26						c.(85-87)gaC>gaT		sorting nexin 31							69	67	68					8																	101661556		2203	4300	6503	SO:0001819	synonymous_variant	169166				cell communication|protein transport		phosphatidylinositol binding	g.chr8:101661556G>A		CCDS6288.1	8q22.3	2011-05-03			ENSG00000174226	ENSG00000174226		"Sorting nexins"	28605	protein-coding gene	gene with protein product						16782399	Standard	NM_152628		Approved	MGC39715	uc003yjr.3	Q8N9S9	OTTHUMG00000164725	ENST00000311812.2:c.87C>T	8.37:g.101661556G>A							p.D29D	NM_152628.3	NP_689841.3	Q8N9S9	SNX31_HUMAN	Epithelial(11;1.21e-11)|all cancers(13;2.62e-09)|OV - Ovarian serous cystadenocarcinoma(57;3.22e-06)|STAD - Stomach adenocarcinoma(118;0.206)		2	237	-	all_cancers(14;4.01e-05)|all_epithelial(15;1.26e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125)		29			PX.		C9J6L9|Q8N0U9	Silent	SNP	ENST00000311812.2	37	c.87C>T	CCDS6288.1																																																																																				0.627	SNX31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379910.1	NM_152628		6	51	0	0	0	1	0	6	51					A	101661556	G	A	101661556	2	1	286	1	0	0	0	0	0	0	0	1	14901	1136	40	1		1	SNX31	8	101661556	Silent	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	75430	101661556	44702466	297	13427											
SYBU	55638	broad.mit.edu	37	chr8	110587185	110587185	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagcgaatgcagggcaaccaCgcaacagcccctgagcaagg	13	2	13	13	2	0	1	0	1	0	0	0	3	0	1	3	2	6	4	3	2	4	0	rs566837139		TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr8:110587185C>T	ENST00000422135.1	-	8	2457	c.1942G>A	c.(1942-1944)Gtg>Atg	p.V648M	SYBU_ENST00000408908.2_Missense_Mutation_p.V648M|SYBU_ENST00000446070.2_Missense_Mutation_p.V647M|SYBU_ENST00000399066.3_Missense_Mutation_p.V645M|SYBU_ENST00000528331.1_Missense_Mutation_p.V529M|SYBU_ENST00000533895.1_Missense_Mutation_p.V647M|SYBU_ENST00000433638.1_Missense_Mutation_p.V648M|SYBU_ENST00000532779.1_Missense_Mutation_p.V580M|SYBU_ENST00000408889.3_Missense_Mutation_p.V529M|SYBU_ENST00000440310.1_Missense_Mutation_p.V648M|SYBU_ENST00000527707.1_5'Flank|SYBU_ENST00000533171.1_Missense_Mutation_p.V648M|SYBU_ENST00000419099.1_Missense_Mutation_p.V647M|SYBU_ENST00000533065.1_Missense_Mutation_p.V529M|SYBU_ENST00000276646.9_Missense_Mutation_p.V648M|SYBU_ENST00000528647.1_Missense_Mutation_p.V647M|SYBU_ENST00000529690.1_Missense_Mutation_p.V518M|SYBU_ENST00000529175.1_Missense_Mutation_p.V442M|SYBU_ENST00000424158.2_Missense_Mutation_p.V653M	NM_001099744.1	NP_001093214.1	Q9NX95	SYBU_HUMAN	syntabulin (syntaxin-interacting)	648					regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)	cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|dense body (GO:0097433)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)		p.V645M(1)		NS(1)|breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	30						AGGGCAACCACGCAACAGCCC	0.577																																						ENST00000399066.3																			1	Substitution - Missense(1)	p.V645M(1)	prostate(1)	NS(1)|breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	30						c.(1933-1935)Gtg>Atg		syntabulin (syntaxin-interacting)							84	94	91					8																	110587185		2077	4191	6268	SO:0001583	missense	55638					cytoplasmic membrane-bounded vesicle|cytoskeleton|Golgi membrane|integral to membrane		g.chr8:110587185C>T	AB040905	CCDS43763.1, CCDS43764.1, CCDS47912.1, CCDS55271.1	8q23.2	2010-08-27				ENSG00000147642			26011	protein-coding gene	gene with protein product	"syntaphilin-like"	611568				17611281, 16750881, 16157705, 15656992, 15459722	Standard	NM_001099743		Approved	FLJ20366, GOLSYN, KIAA1472, OCSYN, SNPHL	uc003ynj.4	Q9NX95		ENST00000422135.1:c.1942G>A	8.37:g.110587185C>T	ENSP00000407118:p.Val648Met					SYBU_ENST00000424158.2_Missense_Mutation_p.V653M|SYBU_ENST00000533065.1_Missense_Mutation_p.V529M|SYBU_ENST00000533171.1_Missense_Mutation_p.V648M|SYBU_ENST00000446070.2_Missense_Mutation_p.V647M|SYBU_ENST00000440310.1_Missense_Mutation_p.V648M|SYBU_ENST00000408889.3_Missense_Mutation_p.V529M|SYBU_ENST00000532779.1_Missense_Mutation_p.V580M|SYBU_ENST00000408908.2_Missense_Mutation_p.V648M|SYBU_ENST00000433638.1_Missense_Mutation_p.V648M|SYBU_ENST00000528331.1_Missense_Mutation_p.V529M|SYBU_ENST00000422135.1_Missense_Mutation_p.V648M|SYBU_ENST00000419099.1_Missense_Mutation_p.V647M|SYBU_ENST00000276646.9_Missense_Mutation_p.V648M|SYBU_ENST00000528647.1_Missense_Mutation_p.V647M|SYBU_ENST00000533895.1_Missense_Mutation_p.V647M|SYBU_ENST00000529690.1_Missense_Mutation_p.V518M|SYBU_ENST00000529175.1_Missense_Mutation_p.V442M	p.V645M	NM_001099756.1	NP_001093226.1	Q9NX95	SYBU_HUMAN			6	2660	-			648					A8K354|B3KQX3|B3KU61|Q5R1T1|Q5R1T2|Q5R1T3|Q5Y2M6|Q8ND49|Q8TCR6|Q96D80|Q9P256	Missense_Mutation	SNP	ENST00000422135.1	37	c.1933G>A	CCDS47912.1	.	.	.	.	.	.	.	.	.	.	C	14.42	2.530474	0.45073	.	.	ENSG00000147642	ENST00000533895;ENST00000424158;ENST00000532779;ENST00000399066;ENST00000446070;ENST00000528331;ENST00000529175;ENST00000276646;ENST00000528647;ENST00000422135;ENST00000419099;ENST00000433638;ENST00000408908;ENST00000440310;ENST00000408889;ENST00000533065;ENST00000529690;ENST00000533171	.	.	.	5.7	2.77	0.32553	.	0.413949	0.27000	N	0.021430	T	0.48750	0.1517	M	0.61703	1.905	0.35004	D	0.756232	D;P;D;D;D	0.63880	0.993;0.668;0.978;0.993;0.993	P;B;P;P;P	0.52424	0.698;0.055;0.525;0.62;0.62	T	0.59632	-0.7418	9	0.66056	D	0.02	-13.6518	2.8563	0.05573	0.3429:0.3463:0.2261:0.0847	.	518;580;647;648;645	B7Z4D2;Q9NX95-2;Q9NX95-3;Q9NX95;Q9NX95-4	.;.;.;SYBU_HUMAN;.	M	647;653;580;645;647;529;442;648;647;648;647;648;648;648;529;529;518;648	.	ENSP00000276646:V648M	V	-	1	0	SYBU	110656361	0.424000	0.25490	0.984000	0.44739	0.887000	0.51463	0.414000	0.21164	0.712000	0.32039	0.655000	0.94253	GTG		0.577	SYBU-204	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000385501.1	NM_017786		21	82	0	0	0	1	0	21	82					T	110587185	C	T	110587185	3	4	286	1	0	0	0	0	1	0	0	0	15424	536	19	1	53	1	SYBU	8	110587185	Missense_Mutation	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	8925629	110587185	35776837	298	13428											
TNFRSF11B	4982	broad.mit.edu	37	chr8	119936817	119936817	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtgtcttggtcgccatttttTattcgccacaaactgagcag	8	14	9	10	2	1	1	0	1	1	0	3	1	1	1	2	1	2	1	2	1	2	5			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr8:119936817T>C	ENST00000297350.4	-	5	1380	c.1002A>G	c.(1000-1002)atA>atG	p.I334M		NM_002546.3	NP_002537.3	O00300	TR11B_HUMAN	tumor necrosis factor receptor superfamily, member 11b	334	Death 2.				apoptotic process (GO:0006915)|extracellular matrix organization (GO:0030198)|negative regulation of bone resorption (GO:0045779)|negative regulation of odontogenesis of dentin-containing tooth (GO:0042489)|response to arsenic-containing substance (GO:0046685)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to magnesium ion (GO:0032026)|response to nutrient (GO:0007584)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	cytokine activity (GO:0005125)|receptor activity (GO:0004872)			breast(1)|central_nervous_system(3)|endometrium(4)|large_intestine(6)|lung(7)|prostate(3)|skin(1)	25	all_cancers(13;3.71e-26)|Lung NSC(37;1.69e-07)|Ovarian(258;0.018)|all_neural(195;0.0592)|Hepatocellular(40;0.234)		STAD - Stomach adenocarcinoma(47;0.00193)			CGCCATTTTTTATTCGCCACA	0.453																																						ENST00000297350.4																			0				breast(1)|central_nervous_system(3)|endometrium(4)|large_intestine(6)|lung(7)|prostate(3)|skin(1)	25						c.(1000-1002)atA>atG		tumor necrosis factor receptor superfamily, member 11b							233	206	215					8																	119936817		2203	4300	6503	SO:0001583	missense	4982				apoptosis|skeletal system development		cytokine activity|receptor activity	g.chr8:119936817T>C	U94332	CCDS6326.1	8q24	2008-07-31	2008-07-31		ENSG00000164761	ENSG00000164761		"Tumor necrosis factor receptor superfamily"	11909	protein-coding gene	gene with protein product		602643	"osteoprotegerin"	OPG		9108485	Standard	NM_002546		Approved	OCIF, TR1	uc003yon.4	O00300	OTTHUMG00000164969	ENST00000297350.4:c.1002A>G	8.37:g.119936817T>C	ENSP00000297350:p.Ile334Met						p.I334M	NM_002546.3	NP_002537.3	O00300	TR11B_HUMAN	STAD - Stomach adenocarcinoma(47;0.00193)		5	1380	-	all_cancers(13;3.71e-26)|Lung NSC(37;1.69e-07)|Ovarian(258;0.018)|all_neural(195;0.0592)|Hepatocellular(40;0.234)		334			Death 2.		B2R9A8|O60236|Q53FX6|Q9UHP4	Missense_Mutation	SNP	ENST00000297350.4	37	c.1002A>G	CCDS6326.1	.	.	.	.	.	.	.	.	.	.	T	5.682	0.310477	0.10733	.	.	ENSG00000164761	ENST00000297350	D	0.93133	-3.17	5.43	-10.9	0.00192	Death (1);	0.760060	0.12746	N	0.442675	D	0.83403	0.5247	L	0.46157	1.445	0.20196	N	0.999922	B	0.13145	0.007	B	0.15870	0.014	T	0.65977	-0.6037	9	.	.	.	-0.7717	2.2938	0.04145	0.2342:0.2946:0.3268:0.1444	.	334	O00300	TR11B_HUMAN	M	334	ENSP00000297350:I334M	.	I	-	3	3	TNFRSF11B	120005998	0.354000	0.24912	0.001000	0.08648	0.492000	0.33523	-0.476000	0.06591	-2.281000	0.00674	-0.490000	0.04691	ATA		0.453	TNFRSF11B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381220.1			19	115	0	0	0	1	0	19	115					C	119936817	T	C	119936817	3	2	286	1	0	0	0	0	1	0	0	0	16282	1744	61	4	207	4	TNFRSF11B	8	119936817	Missense_Mutation	SNP	T	TCGA-J9-A52C-01A-11D-A26M-08	9349632	119936817	26427205	299	13429											
FER1L6	654463	broad.mit.edu	37	chr8	124988246	124988246	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atgaattcaagcatcatggcGaacgtcaccaaggcatttgt	13	10	9	9	2	3	1	3	1	0	0	3	2	3	1	1	2	2	2	1	2	4	2	rs368591561		TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr8:124988246G>A	ENST00000522917.1	+	9	998	c.792G>A	c.(790-792)gcG>gcA	p.A264A	FER1L6_ENST00000399018.1_Silent_p.A264A	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like family member 6	264	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.					integral component of membrane (GO:0016021)				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			GCATCATGGCGAACGTCACCA	0.507													G|||	1	0.000199681	0	0	5008	,	,		17329	0.001		0	False		,,,				2504	0					ENST00000522917.1																			0				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118						c.(790-792)gcG>gcA		fer-1-like 6 (C. elegans)		G		0,3978		0,0,1989	207	200	202		792	-7.8	0.5	8		202	1,8325		0,1,4162	no	coding-synonymous	FER1L6	NM_001039112.2		0,1,6151	AA,AG,GG		0.012,0.0,0.0081		264/1858	124988246	1,12303	1989	4163	6152	SO:0001819	synonymous_variant	654463					integral to membrane		g.chr8:124988246G>A	AB196633	CCDS43767.1	8q24.13	2014-06-27	2014-06-27		ENSG00000214814	ENSG00000214814			28065	protein-coding gene	gene with protein product			"fer-1-like 6 (C. elegans)"				Standard	NM_001039112		Approved	C8ORFK23	uc003yqw.3	Q2WGJ9	OTTHUMG00000164998	ENST00000522917.1:c.792G>A	8.37:g.124988246G>A						FER1L6_ENST00000399018.1_Silent_p.A264A	p.A264A	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	STAD - Stomach adenocarcinoma(47;0.00186)		9	998	+	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		264			C2 2.			Silent	SNP	ENST00000522917.1	37	c.792G>A	CCDS43767.1																																																																																				0.507	FER1L6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381400.1	NM_001039112		27	126	0	0	0	1	0	27	126					A	124988246	G	A	124988246	2	1	286	1	0	0	0	0	0	0	0	1	5815	1045	37	2		2	FER1L6	8	124988246	Silent	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	5051429	124988246	21375776	300	13430											
ASAP1	50807	broad.mit.edu	37	chr8	131073267	131073267	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atttctgaaagatttcgggcGggatggtggctttgtctagg	7	14	15	5	2	2	2	0	1	2	1	3	3	2	3	0	5	0	1	0	5	2	4			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr8:131073267G>A	ENST00000518721.1	-	28	2977	c.2750C>T	c.(2749-2751)cCg>cTg	p.P917L	ASAP1_ENST00000357668.1_Missense_Mutation_p.P917L	NM_001247996.1|NM_018482.3	NP_001234925.1|NP_060952.2	Q9ULH1	ASAP1_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 1	917	Pro-rich.				cilium morphogenesis (GO:0060271)|regulation of ARF GTPase activity (GO:0032312)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|zinc ion binding (GO:0008270)			breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(22)|ovary(6)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	68						GATTTCGGGCGGGATGGTGGC	0.532																																						ENST00000357668.1																			0				breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(22)|ovary(6)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	68						c.(2749-2751)cCg>cTg		ArfGAP with SH3 domain, ankyrin repeat and PH domain 1							110	120	117					8																	131073267		2203	4300	6503	SO:0001583	missense	50807				cilium morphogenesis|filopodium assembly|regulation of ARF GTPase activity|signal transduction	cytoplasm|membrane	ARF GTPase activator activity|cytoskeletal adaptor activity|SH3 domain binding|zinc ion binding	g.chr8:131073267G>A	AB033075	CCDS6362.1, CCDS75788.1	8q24.1-q24.2	2013-01-11	2008-09-22	2008-09-22	ENSG00000153317	ENSG00000153317		"ADP-ribosylation factor GTPase activating proteins", "Pleckstrin homology (PH) domain containing", "Ankyrin repeat domain containing"	2720	protein-coding gene	gene with protein product	"centaurin, beta 4"	605953	"development and differentiation enhancing factor 1"	DDEF1		9819391	Standard	NM_018482		Approved	PAP, KIAA1249, ZG14P, CENTB4	uc003yta.2	Q9ULH1	OTTHUMG00000164772	ENST00000518721.1:c.2750C>T	8.37:g.131073267G>A	ENSP00000429900:p.Pro917Leu					ASAP1_ENST00000518721.1_Missense_Mutation_p.P917L	p.P917L			Q9ULH1	ASAP1_HUMAN			27	2777	-			917			Pro-rich.		B2RNV3	Missense_Mutation	SNP	ENST00000518721.1	37	c.2750C>T	CCDS6362.1	.	.	.	.	.	.	.	.	.	.	G	10.99	1.506735	0.26949	.	.	ENSG00000153317	ENST00000343135;ENST00000357668;ENST00000518721	T;T	0.06142	3.34;3.34	5.64	5.64	0.86602	.	0.991693	0.08183	N	0.985040	T	0.08358	0.0208	L	0.48642	1.525	0.54753	D	0.99998	P;P;P	0.39696	0.555;0.555;0.683	B;B;B	0.33521	0.08;0.08;0.165	T	0.28870	-1.0030	10	0.48119	T	0.1	.	12.3512	0.55148	0.0:0.0:0.7341:0.2659	.	917;917;920	B2RNV3;Q9ULH1;Q9ULH1-2	.;ASAP1_HUMAN;.	L	920;917;917	ENSP00000350297:P917L;ENSP00000429900:P917L	ENSP00000344591:P920L	P	-	2	0	ASAP1	131142449	1.000000	0.71417	0.554000	0.28268	0.286000	0.27126	5.611000	0.67674	2.653000	0.90120	0.655000	0.94253	CCG		0.532	ASAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380170.1	NM_018482		14	118	0	0	0	1	0	14	118					A	131073267	G	A	131073267	3	1	286	1	0	0	0	0	1	0	0	0	1010	1116	39	2	651	2	ASAP1	8	131073267	Missense_Mutation	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	6085021	131073267	15290755	301	13431											
TG	7038	broad.mit.edu	37	chr8	133909950	133909950	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acgactcggctggagcatccGcccttctgcggtcgggcccc	4	7	13	17	5	1	0	0	0	1	0	4	2	2	1	4	4	2	2	4	4	0	1			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr8:133909950G>A	ENST00000220616.4	+	12	3098	c.3058G>A	c.(3058-3060)Gcc>Acc	p.A1020T	TG_ENST00000377869.1_Missense_Mutation_p.A1020T	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	1020	Thyroglobulin type-1 8. {ECO:0000255|PROSITE-ProRule:PRU00500}.				hormone biosynthetic process (GO:0042446)|iodide transport (GO:0015705)|regulation of myelination (GO:0031641)|signal transduction (GO:0007165)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular region (GO:0005576)|extracellular space (GO:0005615)				NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		TGGAGCATCCGCCCTTCTGCG	0.587																																						ENST00000220616.4																			0				NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168						c.(3058-3060)Gcc>Acc		thyroglobulin							76	79	78					8																	133909950		2203	4300	6503	SO:0001583	missense	7038				hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity	g.chr8:133909950G>A	AU141420	CCDS34944.1	8q24	2012-10-02			ENSG00000042832	ENSG00000042832			11764	protein-coding gene	gene with protein product		188450					Standard	NM_003235		Approved	TGN, AITD3	uc003ytw.3	P01266	OTTHUMG00000164649	ENST00000220616.4:c.3058G>A	8.37:g.133909950G>A	ENSP00000220616:p.Ala1020Thr					TG_ENST00000377869.1_Missense_Mutation_p.A1020T	p.A1020T	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)	12	3098	+	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	1020			Thyroglobulin type-1 8.		O15274|O43899|Q15593|Q15948|Q9NYR1|Q9NYR2|Q9UMZ0|Q9UNY3	Missense_Mutation	SNP	ENST00000220616.4	37	c.3058G>A	CCDS34944.1	.	.	.	.	.	.	.	.	.	.	G	9.864	1.197099	0.22037	.	.	ENSG00000042832	ENST00000377869;ENST00000220616	T;T	0.63580	-0.05;-0.05	5.59	-9.09	0.00717	Thyroglobulin type-1 (2);	2.205680	0.01789	N	0.032225	T	0.47544	0.1451	L	0.49571	1.57	0.09310	N	1	B	0.21309	0.054	B	0.09377	0.004	T	0.19224	-1.0312	10	0.15066	T	0.55	.	7.1289	0.25488	0.4485:0.0:0.1225:0.429	.	1020	P01266	THYG_HUMAN	T	1020	ENSP00000367100:A1020T;ENSP00000220616:A1020T	ENSP00000220616:A1020T	A	+	1	0	TG	133979132	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-3.267000	0.00533	-2.012000	0.00950	-0.345000	0.07892	GCC		0.587	TG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379606.1	NM_003235		20	78	0	0	0	1	0	20	78					A	133909950	G	A	133909950	3	1	286	1	0	0	0	0	1	0	0	0	15810	1087	38	1	3104	1	TG	8	133909950	Missense_Mutation	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	2836683	133909950	12454072	302	13432											
PTK2	5747	broad.mit.edu	37	chr8	141727771	141727771	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tctggactccatcctcatgcGctcttcttgctgagccttct	4	15	7	15	1	5	1	1	1	4	0	7	2	7	2	3	1	3	2	3	1	0	3			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr8:141727771G>A	ENST00000522684.1	-	23	2297	c.2068C>T	c.(2068-2070)Cgc>Tgc	p.R690C	PTK2_ENST00000538769.1_Missense_Mutation_p.R358C|PTK2_ENST00000519465.1_Missense_Mutation_p.R318C|PTK2_ENST00000517887.1_Missense_Mutation_p.R734C|PTK2_ENST00000395218.2_Missense_Mutation_p.R690C|PTK2_ENST00000340930.3_Missense_Mutation_p.R690C|PTK2_ENST00000519419.1_Missense_Mutation_p.R734C|PTK2_ENST00000535192.1_Missense_Mutation_p.R690C|PTK2_ENST00000430260.2_5'UTR|PTK2_ENST00000521059.1_Missense_Mutation_p.R690C	NM_153831.3	NP_722560.1	Q05397	FAK1_HUMAN	protein tyrosine kinase 2	690					angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell motility (GO:0048870)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|central nervous system neuron axonogenesis (GO:0021955)|embryo development (GO:0009790)|endothelial cell migration (GO:0043542)|ephrin receptor signaling pathway (GO:0048013)|establishment of cell polarity (GO:0030010)|establishment of nucleus localization (GO:0040023)|extracellular matrix organization (GO:0030198)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|growth hormone receptor signaling pathway (GO:0060396)|heart morphogenesis (GO:0003007)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|microtubule cytoskeleton organization (GO:0000226)|negative regulation of anoikis (GO:2000811)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of organ growth (GO:0046621)|negative regulation of synapse assembly (GO:0051964)|netrin-activated signaling pathway (GO:0038007)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|placenta development (GO:0001890)|platelet activation (GO:0030168)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|protein autophosphorylation (GO:0046777)|regulation of cell adhesion mediated by integrin (GO:0033628)|regulation of cell proliferation (GO:0042127)|regulation of cell shape (GO:0008360)|regulation of cytoskeleton organization (GO:0051493)|regulation of endothelial cell migration (GO:0010594)|regulation of focal adhesion assembly (GO:0051893)|regulation of osteoblast differentiation (GO:0045667)|regulation of Rho GTPase activity (GO:0032319)|signal complex assembly (GO:0007172)|transforming growth factor beta receptor signaling pathway (GO:0007179)|vasculogenesis (GO:0001570)	apical plasma membrane (GO:0016324)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|stress fiber (GO:0001725)	actin binding (GO:0003779)|ATP binding (GO:0005524)|JUN kinase binding (GO:0008432)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|SH2 domain binding (GO:0042169)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(6)|lung(23)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	48	all_cancers(97;1.05e-15)|all_epithelial(106;2.09e-14)|Lung NSC(106;1.61e-06)|all_lung(105;2.5e-06)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;2.72e-05)|Breast(495;0.159)	BRCA - Breast invasive adenocarcinoma(115;0.137)			ATCCTCATGCGCTCTTCTTGC	0.552																																						ENST00000522684.1																			0				breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(6)|lung(23)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	48						c.(2068-2070)Cgc>Tgc		protein tyrosine kinase 2							170	141	151					8																	141727771		2203	4300	6503	SO:0001583	missense	5747				axon guidance|blood coagulation|cellular component disassembly involved in apoptosis|ephrin receptor signaling pathway|growth hormone receptor signaling pathway|integrin-mediated signaling pathway|peptidyl-tyrosine phosphorylation|protein autophosphorylation|regulation of cell adhesion mediated by integrin|signal complex assembly	cytoskeleton|cytosol|focal adhesion	ATP binding|JUN kinase binding|non-membrane spanning protein tyrosine kinase activity|SH2 domain binding|signal transducer activity	g.chr8:141727771G>A	L13616	CCDS6381.1, CCDS56557.1	8q24.3	2013-02-18	2013-02-18		ENSG00000169398	ENSG00000169398	2.7.10.1	"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	9611	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 71"	600758	"PTK2 protein tyrosine kinase 2"			8422239	Standard	NM_153831		Approved	FAK, FADK, FAK1, PPP1R71	uc003yvt.3	Q05397	OTTHUMG00000067438	ENST00000522684.1:c.2068C>T	8.37:g.141727771G>A	ENSP00000429911:p.Arg690Cys					PTK2_ENST00000395218.2_Missense_Mutation_p.R690C|PTK2_ENST00000519419.1_Missense_Mutation_p.R734C|PTK2_ENST00000538769.1_Missense_Mutation_p.R358C|PTK2_ENST00000340930.3_Missense_Mutation_p.R690C|PTK2_ENST00000430260.2_5'UTR|PTK2_ENST00000519465.1_Missense_Mutation_p.R318C|PTK2_ENST00000535192.1_Missense_Mutation_p.R690C|PTK2_ENST00000517887.1_Missense_Mutation_p.R734C|PTK2_ENST00000521059.1_Missense_Mutation_p.R690C	p.R690C	NM_153831.3	NP_722560.1	Q05397	FAK1_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.137)		23	2297	-	all_cancers(97;1.05e-15)|all_epithelial(106;2.09e-14)|Lung NSC(106;1.61e-06)|all_lung(105;2.5e-06)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;2.72e-05)|Breast(495;0.159)	690					B4E2N6|F5H4S4|Q14291|Q9UD85	Missense_Mutation	SNP	ENST00000522684.1	37	c.2068C>T	CCDS6381.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	26.8|26.8	4.769286|4.769286	0.90020|0.90020	.|.	.|.	ENSG00000169398|ENSG00000169398	ENST00000519654|ENST00000522684;ENST00000535192;ENST00000519465;ENST00000517887;ENST00000521059;ENST00000395214;ENST00000395218;ENST00000354438;ENST00000395221;ENST00000523539;ENST00000340930;ENST00000538769;ENST00000519419;ENST00000521986	.|T;T;T;T;T;T;T;T;T;T;T	.|0.62498	.|0.02;0.02;0.02;0.02;0.02;0.02;0.02;0.02;0.02;0.02;0.02	5.62|5.62	5.62|5.62	0.85841|0.85841	.|Protein kinase-like domain (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.76962|0.76962	0.4061|0.4061	L|L	0.54323|0.54323	1.7|1.7	0.80722|0.80722	D|D	1|1	.|D;D;D;D;D;D;D;D;D;D	.|0.89917	.|1.0;1.0;1.0;1.0;0.998;1.0;1.0;1.0;1.0;1.0	.|D;D;D;D;P;D;D;D;D;D	.|0.76071	.|0.964;0.987;0.917;0.945;0.893;0.925;0.917;0.962;0.917;0.943	T|T	0.77078|0.77078	-0.2721|-0.2721	5|10	.|0.59425	.|D	.|0.04	.|.	19.6639|19.6639	0.95886|0.95886	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|690;385;610;690;712;690;642;538;358;318	.|B4E2N6;B4DH13;Q59GN8;Q05397;Q658W2;Q8IYN9;Q59GM6;Q05397-2;Q8N9D7;E9PEI4	.|.;.;.;FAK1_HUMAN;.;.;.;.;.;.	V|C	700|690;690;318;734;690;642;690;611;385;362;690;358;734;388	.|ENSP00000429911:R690C;ENSP00000438009:R690C;ENSP00000429170:R318C;ENSP00000429082:R734C;ENSP00000429474:R690C;ENSP00000378644:R690C;ENSP00000428492:R362C;ENSP00000341189:R690C;ENSP00000445742:R358C;ENSP00000429129:R734C;ENSP00000430603:R388C	.|ENSP00000341189:R690C	A|R	-|-	2|1	0|0	PTK2|PTK2	141796953|141796953	1.000000|1.000000	0.71417|0.71417	0.885000|0.885000	0.34714|0.34714	0.982000|0.982000	0.71751|0.71751	4.551000|4.551000	0.60740|0.60740	2.645000|2.645000	0.89757|0.89757	0.650000|0.650000	0.86243|0.86243	GCG|CGC		0.552	PTK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378054.5	NM_005607		21	93	0	0	0	1	0	21	93					A	141727771	G	A	141727771	3	1	286	1	0	0	0	0	1	0	0	0	12762	1087	38	1	1130	1	PTK2	8	141727771	Missense_Mutation	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	7817821	141727771	4636251	303	13433											
TSTA3	7264	broad.mit.edu	37	chr8	144696973	144696973	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcaccatggtctcatctatcGggtaggtcgtcttgtcaggg	6	13	12	10	2	5	0	3	0	3	0	8	0	5	0	1	4	0	1	1	4	2	3	rs370546429		TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr8:144696973G>T	ENST00000425753.2	-	4	477	c.374C>A	c.(373-375)cCg>cAg	p.P125Q	TSTA3_ENST00000529064.1_Missense_Mutation_p.P125Q	NM_003313.3	NP_003304.1	Q13630	FCL_HUMAN	tissue specific transplantation antigen P35B	125					'de novo' GDP-L-fucose biosynthetic process (GO:0042351)|cytolysis (GO:0019835)|GDP-mannose metabolic process (GO:0019673)|leukocyte cell-cell adhesion (GO:0007159)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	coenzyme binding (GO:0050662)|electron carrier activity (GO:0009055)|GDP-4-dehydro-D-rhamnose reductase activity (GO:0042356)|GDP-L-fucose synthase activity (GO:0050577)|isomerase activity (GO:0016853)	p.P125L(1)		breast(1)|endometrium(1)|large_intestine(1)|lung(3)|pancreas(1)|prostate(1)|skin(1)	9	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.17e-38)|Epithelial(56;7.17e-37)|all cancers(56;2.46e-32)|Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239)			CTCATCTATCGGGTAGGTCGT	0.657																																						ENST00000425753.2																			1	Substitution - Missense(1)	p.P125L(1)	large_intestine(1)	breast(1)|endometrium(1)|large_intestine(1)|lung(3)|pancreas(1)|prostate(1)|skin(1)	9						c.(373-375)cCg>cAg		tissue specific transplantation antigen P35B	NADH(DB00157)						91	83	86					8																	144696973		2203	4300	6503	SO:0001583	missense	7264				'de novo' GDP-L-fucose biosynthetic process|leukocyte cell-cell adhesion		coenzyme binding|electron carrier activity|GDP-4-dehydro-D-rhamnose reductase activity|GDP-L-fucose synthase activity|isomerase activity	g.chr8:144696973G>T	U58766	CCDS6408.1	8q24.3	2012-02-22			ENSG00000104522	ENSG00000104522	1.1.1.271	"Short chain dehydrogenase/reductase superfamily / Extended SDR fold"	12390	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 4E, member 1", "GDP-L-fucose synthase"	137020				7803801, 1348494, 19027726	Standard	NM_003313		Approved	FX, P35B, SDR4E1	uc003yzb.2	Q13630	OTTHUMG00000165159	ENST00000425753.2:c.374C>A	8.37:g.144696973G>T	ENSP00000398803:p.Pro125Gln					TSTA3_ENST00000529064.1_Missense_Mutation_p.P125Q	p.P125Q	NM_003313.3	NP_003304.1	Q13630	FCL_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;1.17e-38)|Epithelial(56;7.17e-37)|all cancers(56;2.46e-32)|Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239)		4	477	-	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		125					B2R8Y7|D3DWK5|Q567Q9|Q9UDG7	Missense_Mutation	SNP	ENST00000425753.2	37	c.374C>A	CCDS6408.1	.	.	.	.	.	.	.	.	.	.	G	19.05	3.751144	0.69533	.	.	ENSG00000104522	ENST00000529064;ENST00000425753;ENST00000529048;ENST00000533817	D;D;D;D	0.94457	-3.43;-3.43;-3.43;-3.43	4.85	4.85	0.62838	NAD-dependent epimerase/dehydratase (1);NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.98460	0.9487	H	0.98487	4.245	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.99839	1.1060	10	0.87932	D	0	-11.8563	16.5412	0.84385	0.0:0.0:1.0:0.0	.	125;125	B4DZW9;Q13630	.;FCL_HUMAN	Q	125	ENSP00000435386:P125Q;ENSP00000398803:P125Q;ENSP00000431587:P125Q;ENSP00000437012:P125Q	ENSP00000398803:P125Q	P	-	2	0	TSTA3	144768116	1.000000	0.71417	0.888000	0.34837	0.414000	0.31173	9.202000	0.95026	2.235000	0.73313	0.467000	0.42956	CCG		0.657	TSTA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382263.1	NM_003313		8	65	1	0	3.07112e-06	1	3.10961e-06	8	65					T	144696973	G	T	144696973	3	4	286	1	0	0	0	0	1	0	0	0	16671	1116	39	5	623	5	TSTA3	8	144696973	Missense_Mutation	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	2969202	144696973	1667049	304	13434											
EPPK1	83481	broad.mit.edu	37	chr8	144944144	144944144	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaggagctgggcatagctcGtgcgcccctggccgtccggt	4	7	15	15	4	0	0	0	0	0	0	2	1	1	1	5	4	3	3	5	4	1	1	rs372633695		TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr8:144944144G>A	ENST00000525985.1	-	2	3349	c.3278C>T	c.(3277-3279)aCg>aTg	p.T1093M				P58107	EPIPL_HUMAN	epiplakin 1	1093						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GGCATAGCTCGTGCGCCCCTG	0.637													G|||	1	0.000199681	8e-04	0	5008	,	,		18724	0		0	False		,,,				2504	0					ENST00000525985.1																			0				NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						c.(3277-3279)aCg>aTg		epiplakin 1		G	MET/THR	1,4109		0,1,2054	26	28	27		3278	2.3	0.9	8		27	1,8403		0,1,4201	no	missense	EPPK1	NM_031308.1	81	0,2,6255	AA,AG,GG		0.0119,0.0243,0.016	probably-damaging	1093/2420	144944144	2,12512	2055	4202	6257	SO:0001583	missense	83481					cytoplasm|cytoskeleton	protein binding|structural molecule activity	g.chr8:144944144G>A	AB051895	CCDS75800.1	8q24.3	2014-09-17				ENSG00000261150			15577	protein-coding gene	gene with protein product	"epidermal autoantigen 450K"	607553				11278896, 15671067	Standard	NM_031308		Approved	EPIPL1	uc003zaa.1	P58107		ENST00000525985.1:c.3278C>T	8.37:g.144944144G>A	ENSP00000436337:p.Thr1093Met						p.T1093M			P58107	EPIPL_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		2	3349	-	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		1093					Q76E58|Q9NSU9	Missense_Mutation	SNP	ENST00000525985.1	37	c.3278C>T		.	.	.	.	.	.	.	.	.	.	G	12.39	1.924188	0.34002	2.43E-4	1.19E-4	ENSG00000227184	ENST00000525985	T	0.68479	-0.33	4.28	2.29	0.28610	.	.	.	.	.	T	0.48447	0.1500	L	0.29908	0.895	0.22719	N	0.998812	P	0.50443	0.935	B	0.39660	0.306	T	0.39583	-0.9607	9	0.49607	T	0.09	.	4.9121	0.13827	0.3624:0.0:0.6376:0.0	.	1093	E9PPU0	.	M	1093	ENSP00000436337:T1093M	ENSP00000436337:T1093M	T	-	2	0	EPPK1	145016132	0.900000	0.30661	0.866000	0.34008	0.040000	0.13550	2.318000	0.43779	1.006000	0.39211	0.313000	0.20887	ACG		0.637	EPPK1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000382675.1	NM_031308		6	21	0	0	0	1	0	6	21					A	144944144	G	A	144944144	3	1	286	1	0	0	0	0	1	0	0	0	5190	1145	40	1	3988	1	EPPK1	8	144944144	Missense_Mutation	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	247171	144944144	1419878	305	13435											
PLEC	5339	broad.mit.edu	37	chr8	145006673	145006673	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cacattagctccttagtggcGgctgccacaaagctgtgcaa	10	9	10	12	1	0	0	0	0	0	0	1	0	1	0	2	2	4	4	2	2	4	2			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr8:145006673G>A	ENST00000322810.4	-	16	2452	c.2283C>T	c.(2281-2283)gcC>gcT	p.A761A	PLEC_ENST00000356346.3_Silent_p.A610A|PLEC_ENST00000354958.2_Silent_p.A602A|PLEC_ENST00000398774.2_Silent_p.A592A|PLEC_ENST00000436759.2_Silent_p.A651A|PLEC_ENST00000354589.3_Silent_p.A624A|PLEC_ENST00000345136.3_Silent_p.A624A|PLEC_ENST00000357649.2_Silent_p.A628A|PLEC_ENST00000527096.1_Silent_p.A647A	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	761	Globular 1.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						CCTTAGTGGCGGCTGCCACAA	0.622																																						ENST00000322810.4																			0				NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						c.(2281-2283)gcC>gcT		plectin							41	53	49					8																	145006673		1983	4124	6107	SO:0001819	synonymous_variant	5339				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle	g.chr8:145006673G>A	U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"plectin 1, intermediate filament binding protein, 500kD", "epidermolysis bullosa simplex 1 (Ogna)", "plectin 1, intermediate filament binding protein 500kDa"	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.2283C>T	8.37:g.145006673G>A						PLEC_ENST00000354589.3_Silent_p.A624A|PLEC_ENST00000357649.2_Silent_p.A628A|PLEC_ENST00000398774.2_Silent_p.A592A|PLEC_ENST00000436759.2_Silent_p.A651A|PLEC_ENST00000354958.2_Silent_p.A602A|PLEC_ENST00000345136.3_Silent_p.A624A|PLEC_ENST00000356346.3_Silent_p.A610A|PLEC_ENST00000527096.1_Silent_p.A647A	p.A761A	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN			16	2452	-			761			Globular 1.		Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Silent	SNP	ENST00000322810.4	37	c.2283C>T	CCDS43772.1																																																																																				0.622	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	NM_000445		17	70	0	0	0	1	0	17	70					A	145006673	G	A	145006673	2	1	286	1	0	0	0	0	0	0	0	1	12052	1103	39	2		2	PLEC	8	145006673	Silent	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	62529	145006673	1357349	306	13436											
PARP10	84875	broad.mit.edu	37	chr8	145051834	145051834	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gagcacgtggccaggaccccGcagagggggcgcccgcagac	8	1	17	15	4	0	2	0	0	0	2	0	4	0	3	4	4	1	3	4	4	0	0			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr8:145051834G>A	ENST00000313028.7	-	11	2990	c.2896C>T	c.(2896-2898)Cgg>Tgg	p.R966W	PARP10_ENST00000524918.1_Missense_Mutation_p.R957W|PARP10_ENST00000525773.1_Missense_Mutation_p.R978W|PLEC_ENST00000436759.2_5'Flank|PLEC_ENST00000527096.1_5'Flank	NM_032789.3	NP_116178.2	Q53GL7	PAR10_HUMAN	poly (ADP-ribose) polymerase family, member 10	966	PARP catalytic. {ECO:0000255|PROSITE- ProRule:PRU00397}.				negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of gene expression (GO:0010629)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein import into nucleus, translocation (GO:0033159)|negative regulation of protein K63-linked ubiquitination (GO:1900045)|negative regulation of viral genome replication (GO:0045071)|protein ADP-ribosylation (GO:0006471)|protein auto-ADP-ribosylation (GO:0070213)|protein poly-ADP-ribosylation (GO:0070212)|regulation of chromatin assembly (GO:0010847)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	K63-linked polyubiquitin binding (GO:0070530)|NAD+ ADP-ribosyltransferase activity (GO:0003950)	p.R966W(1)		NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|pancreas(1)|upper_aerodigestive_tract(2)	27	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.31e-40)|Epithelial(56;1.16e-39)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CCAGGACCCCGCAGAGGGGGC	0.706																																						ENST00000313028.7																			1	Substitution - Missense(1)	p.R966W(1)	breast(1)	NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|pancreas(1)|upper_aerodigestive_tract(2)	27						c.(2896-2898)Cgg>Tgg		poly (ADP-ribose) polymerase family, member 10							17	18	18					8																	145051834		2168	4266	6434	SO:0001583	missense	84875					Golgi apparatus|nucleolus	NAD+ ADP-ribosyltransferase activity|nucleotide binding	g.chr8:145051834G>A	AK027370	CCDS34960.1	8q24	2010-02-16				ENSG00000178685		"Poly (ADP-ribose) polymerases"	25895	protein-coding gene	gene with protein product		609564				15273990	Standard	NM_032789		Approved	FLJ14464	uc003zal.4	Q53GL7		ENST00000313028.7:c.2896C>T	8.37:g.145051834G>A	ENSP00000325618:p.Arg966Trp					PARP10_ENST00000524918.1_Missense_Mutation_p.R957W|PARP10_ENST00000525773.1_Missense_Mutation_p.R978W	p.R966W	NM_032789.3	NP_116178.2	Q53GL7	PAR10_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;1.31e-40)|Epithelial(56;1.16e-39)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		11	2990	-	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		966			PARP catalytic.		Q8N2I0|Q8WV05|Q96CH7|Q96K72	Missense_Mutation	SNP	ENST00000313028.7	37	c.2896C>T	CCDS34960.1	.	.	.	.	.	.	.	.	.	.	g	13.51	2.259005	0.39896	.	.	ENSG00000178685	ENST00000524918;ENST00000534861;ENST00000313028;ENST00000525773	T;T;T	0.14640	2.49;2.49;2.49	4.88	1.31	0.21738	Poly(ADP-ribose) polymerase, catalytic domain (2);	0.154033	0.28493	N	0.015157	T	0.35480	0.0933	M	0.78456	2.415	0.09310	N	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.997;0.998	T	0.14172	-1.0482	10	0.72032	D	0.01	.	12.7712	0.57421	0.0:0.0:0.5489:0.4511	.	978;966	E9PNI7;Q53GL7	.;PAR10_HUMAN	W	957;672;966;978	ENSP00000431620:R957W;ENSP00000325618:R966W;ENSP00000434776:R978W	ENSP00000325618:R966W	R	-	1	2	PARP10	145123822	0.004000	0.15560	0.089000	0.20774	0.083000	0.17756	0.866000	0.27954	0.378000	0.24764	0.558000	0.71614	CGG		0.706	PARP10-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000383866.1	NM_032789		3	12	0	0	0	1	0	3	12					A	145051834	G	A	145051834	3	1	286	1	0	0	0	0	1	0	0	0	11455	1086	38	1	185	1	PARP10	8	145051834	Missense_Mutation	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	45161	145051834	1312188	307	13437											
SPATC1	375686	broad.mit.edu	37	chr8	145095639	145095639	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacaggcccagcccagtgccGcccaggaacaagtggtccct	9	4	11	17	1	0	0	0	0	0	0	1	1	1	1	5	3	3	0	5	3	2	0	rs140635744	byFrequency	TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr8:145095639G>A	ENST00000377470.3	+	3	1039	c.937G>A	c.(937-939)Gcc>Acc	p.A313T	SPATC1_ENST00000447830.2_Missense_Mutation_p.A313T	NM_198572.2	NP_940974.2	Q76KD6	SPERI_HUMAN	spermatogenesis and centriole associated 1	313						centrosome (GO:0005813)|cytoplasm (GO:0005737)				NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;3.67e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GCCCAGTGCCGCCCAGGAACA	0.672													.|||	2	0.000399361	0.0015	0	5008	,	,		9076	0		0	False		,,,				2504	0					ENST00000377470.3																			0				NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15						c.(937-939)Gcc>Acc		spermatogenesis and centriole associated 1							165	76	106					8																	145095639		2203	4300	6503	SO:0001583	missense	375686							g.chr8:145095639G>A	BC053547	CCDS6413.2, CCDS47937.1	8q24.3	2005-01-11			ENSG00000186583	ENSG00000186583			30510	protein-coding gene	gene with protein product		610874				15280373	Standard	NM_198572		Approved	MGC61633, SPATA15, SPERIOLIN	uc011lkw.2	Q76KD6	OTTHUMG00000156976	ENST00000377470.3:c.937G>A	8.37:g.145095639G>A	ENSP00000366690:p.Ala313Thr					SPATC1_ENST00000447830.2_Missense_Mutation_p.A313T	p.A313T	NM_198572.2	NP_940974.2	Q76KD6	SPERI_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;3.67e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		3	1039	+	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		313					B4DWW9|Q5U5I8|Q7Z6L7	Missense_Mutation	SNP	ENST00000377470.3	37	c.937G>A	CCDS6413.2	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	4.109	0.018255	0.07959	.	.	ENSG00000186583	ENST00000377470;ENST00000447830	T	0.50813	0.73	4.3	0.182	0.15077	.	0.616836	0.13554	N	0.379284	T	0.22704	0.0548	N	0.12182	0.205	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.13019	-1.0525	10	0.40728	T	0.16	-3.9888	1.4655	0.02405	0.1574:0.3398:0.3077:0.1951	.	313;313	B4DWW9;Q76KD6	.;SPERI_HUMAN	T	313	ENSP00000366690:A313T	ENSP00000366690:A313T	A	+	1	0	SPATC1	145167627	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-0.051000	0.11885	-0.500000	0.06614	-1.786000	0.00637	GCC		0.672	SPATC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000346926.1	NM_198572		6	38	0	0	0	1	0	6	38					A	145095639	G	A	145095639	3	1	286	1	0	0	0	0	1	0	0	0	15016	1087	38	1	947	1	SPATC1	8	145095639	Missense_Mutation	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	43805	145095639	1268383	308	13438											
HSF1	3297	broad.mit.edu	37	chr8	145535421	145535421	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tacagcagctccagcctctaCgcccctgatgctgtggccag	7	8	10	16	1	1	1	0	1	1	0	2	1	2	1	5	1	6	3	5	1	2	2			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr8:145535421C>T	ENST00000528838.1	+	8	919	c.759C>T	c.(757-759)taC>taT	p.Y253Y	HSF1_ENST00000400780.4_Silent_p.Y188Y|GS1-393G12.12_ENST00000525023.1_RNA	NM_005526.2	NP_005517.1	Q00613	HSF1_HUMAN	heat shock transcription factor 1	253	Regulatory domain.				cellular response to heat (GO:0034605)|defense response (GO:0006952)|embryonic placenta development (GO:0001892)|embryonic process involved in female pregnancy (GO:0060136)|female meiotic division (GO:0007143)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of tumor necrosis factor production (GO:0032720)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of spindle checkpoint (GO:0090231)|response to lipopolysaccharide (GO:0032496)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|pronucleus (GO:0045120)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II intronic transcription regulatory region sequence-specific DNA binding (GO:0001162)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|large_intestine(1)|lung(3)|prostate(3)|skin(1)|urinary_tract(2)	11	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.94e-40)|Epithelial(56;1.12e-39)|all cancers(56;9.11e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0547)|Colorectal(110;0.055)			CCAGCCTCTACGCCCCTGATG	0.672																																						ENST00000528838.1																			0				endometrium(1)|large_intestine(1)|lung(3)|prostate(3)|skin(1)|urinary_tract(2)	11						c.(757-759)taC>taT		heat shock transcription factor 1							40	41	41					8																	145535421		2203	4296	6499	SO:0001819	synonymous_variant	3297					cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity	g.chr8:145535421C>T	M64673	CCDS6419.1	8q24.3	2014-04-10			ENSG00000185122	ENSG00000185122			5224	protein-coding gene	gene with protein product		140580				1871105	Standard	NM_005526		Approved	HSTF1	uc003zbt.4	Q00613	OTTHUMG00000174604	ENST00000528838.1:c.759C>T	8.37:g.145535421C>T						HSF1_ENST00000400780.4_Silent_p.Y188Y	p.Y253Y	NM_005526.2	NP_005517.1	Q00613	HSF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;3.94e-40)|Epithelial(56;1.12e-39)|all cancers(56;9.11e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0547)|Colorectal(110;0.055)		8	919	+	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		253			Regulatory domain.		A8K4L0|A8MW26|Q53XT4	Silent	SNP	ENST00000528838.1	37	c.759C>T	CCDS6419.1																																																																																				0.672	HSF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382053.1	NM_005526		5	45	0	0	0	1	0	5	45					T	145535421	C	T	145535421	2	4	286	1	0	0	0	0	0	0	0	1	7395	547	19	1		1	HSF1	8	145535421	Silent	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	439782	145535421	828601	309	13439											
GPR172A	79581	broad.mit.edu	37	chr8	145583505	145583505	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tgtggccttcttagcactggCctttgtgctggcactggcat	4	14	12	11	0	1	0	0	0	1	0	1	0	1	0	2	4	2	4	2	4	1	3	rs117500243	byFrequency	TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr8:145583505C>A	ENST00000532887.1	+	3	936	c.353C>A	c.(352-354)gCc>gAc	p.A118D	FBXL6_ENST00000331890.5_5'Flank|SLC52A2_ENST00000530047.1_Missense_Mutation_p.A118D|SLC52A2_ENST00000526752.1_Intron|FBXL6_ENST00000455319.2_5'Flank|SLC52A2_ENST00000527078.1_Missense_Mutation_p.A118D|SLC52A2_ENST00000402965.1_Missense_Mutation_p.A118D|SLC52A2_ENST00000329994.2_Missense_Mutation_p.A118D|SLC52A2_ENST00000526891.1_3'UTR|FBXL6_ENST00000526524.1_5'Flank|SLC52A2_ENST00000540505.1_Missense_Mutation_p.A30D			Q9HAB3	S52A2_HUMAN	solute carrier family 52 (riboflavin transporter), member 2	118					riboflavin transport (GO:0032218)	integral component of plasma membrane (GO:0005887)	riboflavin transporter activity (GO:0032217)|virus receptor activity (GO:0001618)									Gamma Hydroxybutyric Acid(DB01440)	TTAGCACTGGCCTTTGTGCTG	0.592													C|||	7	0.00139776	8e-04	0.0014	5008	,	,		19045	0		0.004	False		,,,				2504	0.001					ENST00000532887.1																			0											c.(352-354)gCc>gAc		solute carrier family 52 (riboflavin transporter), member 2		C	ASP/ALA	5,4401	9.9+/-24.2	0,5,2198	154	143	147		353	3.5	0	8	dbSNP_132	147	35,8565	24.0+/-70.4	0,35,4265	yes	missense	GPR172A	NM_024531.3	126	0,40,6463	AA,AC,CC		0.407,0.1135,0.3076	possibly-damaging	118/446	145583505	40,12966	2203	4300	6503	SO:0001583	missense	79581					integral to plasma membrane	receptor activity|riboflavin transporter activity	g.chr8:145583505C>A	AY070774	CCDS6423.1	8q24.3	2013-07-17	2013-07-17	2012-02-29		ENSG00000185803		"Solute carriers"	30224	protein-coding gene	gene with protein product		607882	"G protein-coupled receptor 172A"	GPR172A		12740431	Standard	NM_024531		Approved	FLJ11856, PAR1, GPCR41, D15Ertd747e, RFVT2, hRFT3	uc003zcd.2	Q9HAB3		ENST00000532887.1:c.353C>A	8.37:g.145583505C>A	ENSP00000436768:p.Ala118Asp					SLC52A2_ENST00000540505.1_Missense_Mutation_p.A30D|SLC52A2_ENST00000526891.1_3'UTR|SLC52A2_ENST00000402965.1_Missense_Mutation_p.A118D|SLC52A2_ENST00000329994.2_Missense_Mutation_p.A118D|SLC52A2_ENST00000526752.1_Intron|SLC52A2_ENST00000530047.1_Missense_Mutation_p.A118D|SLC52A2_ENST00000527078.1_Missense_Mutation_p.A118D	p.A118D			Q9HAB3	RFT3_HUMAN			3	936	+			118					A8K6B6|D3DWL8|G1UCY1|Q86UT1	Missense_Mutation	SNP	ENST00000532887.1	37	c.353C>A	CCDS6423.1	5	0.0022893772893772895	1	0.0020325203252032522	1	0.0027624309392265192	0	0.0	3	0.00395778364116095	C	10.54	1.379659	0.24944	0.001135	0.00407	ENSG00000185803	ENST00000530047;ENST00000527078;ENST00000402965;ENST00000534725;ENST00000532887;ENST00000329994;ENST00000540505	D;D;D;D;D;D;D	0.85773	-2.03;-2.03;-2.03;-2.03;-2.03;-2.03;-2.03	3.55	3.55	0.40652	.	0.281421	0.33980	N	0.004375	T	0.81683	0.4874	M	0.70275	2.135	0.35336	D	0.786042	P	0.43477	0.808	B	0.39419	0.299	D	0.85152	0.0987	9	.	.	.	.	8.8481	0.35184	0.0:0.7687:0.2313:0.0	.	118	Q9HAB3	RFT3_HUMAN	D	118;118;118;118;118;118;30	ENSP00000435820:A118D;ENSP00000434728:A118D;ENSP00000385961:A118D;ENSP00000431965:A118D;ENSP00000436768:A118D;ENSP00000333638:A118D;ENSP00000440400:A30D	.	A	+	2	0	GPR172A	145554313	0.972000	0.33761	0.008000	0.14137	0.090000	0.18270	3.652000	0.54439	1.821000	0.53095	0.462000	0.41574	GCC		0.592	SLC52A2-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382405.1	NM_024531		6	90	1	0	0.00116845	1	0.00117654	6	90					A	145583505	C	A	145583505	3	1	286	1	0	0	0	0	1	0	0	0	6669	739	26	5	359	5	GPR172A	8	145583505	Missense_Mutation	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	48084	145583505	780517	310	13440											
GLIS3	169792	broad.mit.edu	37	chr9	3856144	3856144	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agaaggagctggaactctccGggggctgatgtggtgaggag	9	7	19	6	1	1	3	0	2	1	1	2	6	1	6	1	6	2	2	1	6	2	0	rs537966660		TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr9:3856144G>A	ENST00000324333.10	-	8	2066	c.1873C>T	c.(1873-1875)Cgg>Tgg	p.R625W	GLIS3_ENST00000461870.1_5'UTR|GLIS3_ENST00000381971.3_Missense_Mutation_p.R780W	NM_152629.3	NP_689842.3	Q8NEA6	GLIS3_HUMAN	GLIS family zinc finger 3	625					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription from RNA polymerase II promoter (GO:0006366)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(12)|lung(4)|ovary(2)|prostate(1)|skin(1)	26		Acute lymphoblastic leukemia(2;0.00464)|Breast(48;0.148)		Lung(2;0.00163)|GBM - Glioblastoma multiforme(50;0.00301)|LUSC - Lung squamous cell carcinoma(2;0.0148)		GGAACTCTCCGGGGGCTGATG	0.463													g|||	1	0.000199681	0	0	5008	,	,		19843	0.001		0	False		,,,				2504	0					ENST00000324333.10																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(12)|lung(4)|ovary(2)|prostate(1)|skin(1)	26						c.(1873-1875)Cgg>Tgg		GLIS family zinc finger 3							102	97	98					9																	3856144		2203	4300	6503	SO:0001583	missense	169792				negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter		DNA binding|zinc ion binding	g.chr9:3856144G>A	BC033899	CCDS6451.1, CCDS43784.1	9p24.2	2008-05-02	2004-07-16	2004-07-16	ENSG00000107249	ENSG00000107249		"Zinc fingers, C2H2-type"	28510	protein-coding gene	gene with protein product		610192	"zinc finger protein 515"	ZNF515		14500813	Standard	NM_152629		Approved	MGC33662	uc003zhx.1	Q8NEA6	OTTHUMG00000019463	ENST00000324333.10:c.1873C>T	9.37:g.3856144G>A	ENSP00000325494:p.Arg625Trp					GLIS3_ENST00000381971.3_Missense_Mutation_p.R780W|GLIS3_ENST00000461870.1_5'UTR	p.R625W	NM_152629.3	NP_689842.3	Q8NEA6	GLIS3_HUMAN		Lung(2;0.00163)|GBM - Glioblastoma multiforme(50;0.00301)|LUSC - Lung squamous cell carcinoma(2;0.0148)	8	2066	-		Acute lymphoblastic leukemia(2;0.00464)|Breast(48;0.148)	625					B1AL19|Q1PHK5	Missense_Mutation	SNP	ENST00000324333.10	37	c.1873C>T	CCDS6451.1	.	.	.	.	.	.	.	.	.	.	g	18.23	3.578101	0.65878	.	.	ENSG00000107249	ENST00000324333;ENST00000381971	T;T	0.11169	2.82;2.8	5.59	3.67	0.42095	.	0.274240	0.25180	N	0.032524	T	0.13200	0.0320	N	0.24115	0.695	0.23346	N	0.997862	D;D;D;D	0.71674	0.998;0.996;0.987;0.996	P;B;P;B	0.53861	0.736;0.425;0.629;0.425	T	0.05354	-1.0890	10	0.72032	D	0.01	.	10.5729	0.45211	0.0:0.1331:0.6068:0.2601	.	220;293;780;625	Q59FQ6;Q1PHK3;Q8NEA6-2;Q8NEA6	.;.;.;GLIS3_HUMAN	W	625;780	ENSP00000325494:R625W;ENSP00000371398:R780W	ENSP00000325494:R625W	R	-	1	2	GLIS3	3846144	1.000000	0.71417	1.000000	0.80357	0.928000	0.56348	1.550000	0.36223	0.659000	0.30945	0.561000	0.74099	CGG		0.463	GLIS3-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000051559.1	NM_152629		6	22	0	0	0	1	0	6	22					A	3856144	G	A	3856144	3	1	286	1	0	0	0	0	1	0	0	0	6447	1115	39	2	466	2	GLIS3	9	3856144	Missense_Mutation	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08		3856144	137357287	311	13441											
KIAA1432	57589	broad.mit.edu	37	chr9	5743014	5743014	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acacttggaggagattttgcGtaagtcaaaaaagacaattt	16	11	9	5	1	1	2	1	0	0	2	1	4	1	3	0	2	1	1	0	2	5	5	rs370606357		TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr9:5743014G>A	ENST00000414202.2	+	9	1237		c.e9+1		KIAA1432_ENST00000418622.3_Splice_Site|KIAA1432_ENST00000251879.6_Splice_Site|KIAA1432_ENST00000449720.2_Splice_Site|KIAA1432_ENST00000381532.2_Splice_Site	NM_001206557.1|NM_020829.3	NP_001193486.1|NP_065880.2														breast(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(23)|prostate(1)|upper_aerodigestive_tract(1)	45		Acute lymphoblastic leukemia(23;0.154)		GBM - Glioblastoma multiforme(50;0.000525)|Lung(218;0.122)		GAGATTTTGCGTAAGTCAAAA	0.373																																						ENST00000414202.2																			0				breast(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(23)|prostate(1)|upper_aerodigestive_tract(1)	45						c.e9+1		KIAA1432							133	131	132					9																	5743014		2203	4300	6503	SO:0001630	splice_region_variant	57589					integral to membrane		g.chr9:5743014G>A																												ENST00000414202.2:c.1046+1G>A	9.37:g.5743014G>A						KIAA1432_ENST00000381532.2_Splice_Site|KIAA1432_ENST00000449720.2_Splice_Site|KIAA1432_ENST00000418622.3_Splice_Site|KIAA1432_ENST00000251879.6_Splice_Site		NM_001206557.1|NM_020829.3	NP_001193486.1|NP_065880.2	Q4ADV7	RIC1_HUMAN		GBM - Glioblastoma multiforme(50;0.000525)|Lung(218;0.122)	9	1237	+		Acute lymphoblastic leukemia(23;0.154)							Splice_Site	SNP	ENST00000414202.2	37		CCDS34982.2	.	.	.	.	.	.	.	.	.	.	G	26.2	4.714597	0.89112	.	.	ENSG00000107036	ENST00000251879;ENST00000414202;ENST00000381532;ENST00000418622;ENST00000545641;ENST00000449720	.	.	.	6.17	6.17	0.99709	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	KIAA1432	5733014	1.000000	0.71417	1.000000	0.80357	0.905000	0.53344	9.342000	0.97044	2.941000	0.99782	0.655000	0.94253	.		0.373	KIAA1432-002	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051636.3		Intron	7	24	0	0	0	1	0	7	24					A	5743014	G	A	5743014	5	1	286	1	0	0	0	0	0	0	1	0	8233	1159	40	1	840	1	KIAA1432	9	5743014	Splice_Site	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	1886870	5743014	135470417	312	13442											
TTC39B	158219	broad.mit.edu	37	chr9	15175097	15175097	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gccaattcaaatagagtgaaCggcactaggtagtggtcata	14	9	11	7	1	2	2	2	1	0	1	2	2	2	2	1	3	1	2	1	3	7	5	rs370022194		TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr9:15175097C>T	ENST00000512701.2	-	19	1914	c.1878G>A	c.(1876-1878)ccG>ccA	p.P626P	TTC39B_ENST00000507993.1_Silent_p.P461P|TTC39B_ENST00000355694.2_Silent_p.P560P|TTC39B_ENST00000507285.1_Silent_p.P461P|TTC39B_ENST00000380850.4_Silent_p.P613P|TTC39B_ENST00000297615.5_Silent_p.P557P			Q5VTQ0	TT39B_HUMAN	tetratricopeptide repeat domain 39B	626										NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)	21						ATAGAGTGAACGGCACTAGGT	0.373																																						ENST00000355694.2																			0				NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)	21						c.(1678-1680)ccG>ccA		tetratricopeptide repeat domain 39B		C	,,,,	1,4405	2.1+/-5.4	0,1,2202	99	95	96		1872,1839,1671,1383,1878	-2.5	1	9		96	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	TTC39B	NM_001168339.1,NM_001168340.1,NM_001168341.1,NM_001168342.1,NM_152574.2	,,,,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,,,,	624/681,613/670,557/614,461/518,626/683	15175097	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	158219						binding	g.chr9:15175097C>T	AK091187	CCDS6477.1, CCDS6477.2, CCDS55294.1, CCDS55295.1, CCDS55296.1	9p22.2	2013-01-11	2008-06-23	2008-06-23	ENSG00000155158	ENSG00000155158		"Tetratricopeptide (TTC) repeat domain containing"	23704	protein-coding gene	gene with protein product		613574	"chromosome 9 open reading frame 52"	C9orf52			Standard	NM_001168339		Approved	FLJ33868	uc003zlr.2	Q5VTQ0	OTTHUMG00000019581	ENST00000512701.2:c.1878G>A	9.37:g.15175097C>T						TTC39B_ENST00000512701.1_Silent_p.P626P|TTC39B_ENST00000297615.5_Silent_p.P557P|TTC39B_ENST00000507993.1_Silent_p.P461P|TTC39B_ENST00000380850.4_Silent_p.P613P|TTC39B_ENST00000507285.1_Silent_p.P461P	p.P560P	NM_001168339.1|NM_152574.2	NP_001161811.1|NP_689787.2	Q5VTQ0	TT39B_HUMAN			19	1914	-			560					A5PLN1|B4DQ10|B4DQX4|B4DW93|Q8IVR7|Q8IXZ6|Q8N267	Silent	SNP	ENST00000512701.2	37	c.1680G>A	CCDS6477.2																																																																																				0.373	TTC39B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051758.3	NM_152574		10	43	0	0	0	1	0	10	43					T	15175097	C	T	15175097	2	4	286	1	0	0	0	0	0	0	0	1	16705	523	19	1		1	TTC39B	9	15175097	Silent	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	9432083	15175097	126038334	313	13443											
ADAMTSL1	92949	broad.mit.edu	37	chr9	18657652	18657652	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcagattcgtaactcgggcTccgctgacagtacagtccag	9	9	11	12	3	0	2	0	1	0	1	4	2	2	2	2	1	3	5	2	1	2	3			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr9:18657652T>C	ENST00000380548.4	+	8	1189	c.850T>C	c.(850-852)Tcc>Ccc	p.S284P	ADAMTSL1_ENST00000380566.4_Missense_Mutation_p.S284P|ADAMTSL1_ENST00000327883.7_Missense_Mutation_p.S284P|ADAMTSL1_ENST00000276935.6_Missense_Mutation_p.S284P	NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1	284						proteinaceous extracellular matrix (GO:0005578)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		TAACTCGGGCTCCGCTGACAG	0.493																																						ENST00000380548.4																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42						c.(850-852)Tcc>Ccc		ADAMTS-like 1							110	90	97					9																	18657652		2203	4300	6503	SO:0001583	missense	92949					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding	g.chr9:18657652T>C	AF176313	CCDS6485.1, CCDS47954.1	9p21.3	2013-01-11			ENSG00000178031	ENSG00000178031		"Immunoglobulin superfamily / I-set domain containing"	14632	protein-coding gene	gene with protein product	"punctin"	609198	"chromosome 9 open reading frame 94"	C9orf94		9628581, 11805097	Standard	NM_001040272		Approved	ADAMTSR1, FLJ35283	uc003zne.4	Q8N6G6	OTTHUMG00000019604	ENST00000380548.4:c.850T>C	9.37:g.18657652T>C	ENSP00000369921:p.Ser284Pro					ADAMTSL1_ENST00000380566.4_Missense_Mutation_p.S284P|ADAMTSL1_ENST00000327883.7_Missense_Mutation_p.S284P|ADAMTSL1_ENST00000276935.6_Missense_Mutation_p.S284P	p.S284P	NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN		GBM - Glioblastoma multiforme(50;1.29e-17)	8	1189	+			284					A6PVN1|A8K7E1|Q496M6|Q496M8|Q5T708|Q5VZT8|Q8NAI9|Q96RW4|Q9BXY3	Missense_Mutation	SNP	ENST00000380548.4	37	c.850T>C	CCDS47954.1	.	.	.	.	.	.	.	.	.	.	T	5.871	0.344780	0.11126	.	.	ENSG00000178031	ENST00000380548;ENST00000327883;ENST00000380566;ENST00000276935	T;T;T;T	0.63744	-0.06;0.64;0.64;0.64	5.71	2.57	0.30868	.	.	.	.	.	T	0.29684	0.0741	N	0.02357	-0.585	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.06405	0.0;0.002	T	0.10497	-1.0627	9	0.25106	T	0.35	.	4.2912	0.10879	0.1156:0.4032:0.3869:0.0943	.	284;284	Q8N6G6;Q8N6G6-2	ATL1_HUMAN;.	P	284	ENSP00000369921:S284P;ENSP00000327887:S284P;ENSP00000369940:S284P;ENSP00000276935:S284P	ENSP00000276935:S284P	S	+	1	0	ADAMTSL1	18647652	0.998000	0.40836	0.765000	0.31456	0.020000	0.10135	2.930000	0.48924	1.394000	0.46624	-0.242000	0.12053	TCC		0.493	ADAMTSL1-012	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401206.1			7	22	0	0	0	1	0	7	22					C	18657652	T	C	18657652	3	2	286	1	0	0	0	0	1	0	0	0	274	1551	54	4	880	4	ADAMTSL1	9	18657652	Missense_Mutation	SNP	T	TCGA-J9-A52C-01A-11D-A26M-08	3482555	18657652	122555779	314	13444											
CDKN2A	1029	broad.mit.edu	37	chr9	21971120	21971120	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggcagcgtcgtgcacgggtcGggtgagagtggcggggtcgg	4	6	23	8	6	0	1	0	1	0	1	3	2	0	1	0	7	2	2	0	7	0	0	rs121913388		TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr9:21971120G>A	ENST00000304494.5	-	2	508	c.238C>T	c.(238-240)Cga>Tga	p.R80*	CDKN2A_ENST00000578845.2_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000498628.2_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000579755.1_Missense_Mutation_p.P94L|CDKN2A_ENST00000479692.2_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000530628.2_Missense_Mutation_p.P94L|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000494262.1_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000498124.1_Nonsense_Mutation_p.R80*|CDKN2A_ENST00000579122.1_Nonsense_Mutation_p.R80*|CDKN2A_ENST00000446177.1_Nonsense_Mutation_p.R80*|CDKN2A_ENST00000361570.3_Missense_Mutation_p.P135L|CDKN2A_ENST00000497750.1_Nonsense_Mutation_p.R29*	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	80			R -> L (in a head and neck tumor).|R -> P (in CMM2; loss of CDK4 binding). {ECO:0000269|PubMed:19260062}.		cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of phosphorylation (GO:0042326)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cellular senescence (GO:2000774)|positive regulation of macrophage apoptotic process (GO:2000111)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|Ras protein signal transduction (GO:0007265)|replicative senescence (GO:0090399)|senescence-associated heterochromatin focus assembly (GO:0035986)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|senescence-associated heterochromatin focus (GO:0035985)	cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|NF-kappaB binding (GO:0051059)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)	p.0?(1315)|p.R80*(100)|p.?(44)|p.P135L(7)|p.L65fs*38(1)|p.T79fs*37(1)|p.0(1)|p.A76fs*64(1)|p.T79fs*65(1)|p.E61_L94del(1)|p.A68fs*3(1)|p.R80fs*34(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		TGCACGGGTCGGGTGAGAGTG	0.726	R80*(HSC4_UPPER_AERODIGESTIVE_TRACT)|R80*(MEWO_SKIN)	17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)																												ENST00000304494.5	R80*(HSC4_UPPER_AERODIGESTIVE_TRACT)|R80*(MEWO_SKIN)	17																	1474	Whole gene deletion(1316)|Substitution - Nonsense(100)|Unknown(44)|Substitution - Missense(7)|Deletion - Frameshift(6)|Deletion - In frame(1)	p.0?(1315)|p.R80*(100)|p.?(44)|p.P135L(7)|p.L65fs*38(1)|p.T79fs*37(1)|p.0(1)|p.A76fs*64(1)|p.T79fs*65(1)|p.E61_L94del(1)|p.A68fs*3(1)|p.R80fs*34(1)	haematopoietic_and_lymphoid_tissue(298)|skin(206)|central_nervous_system(168)|lung(150)|urinary_tract(91)|bone(76)|oesophagus(72)|upper_aerodigestive_tract(63)|soft_tissue(60)|pleura(51)|pancreas(37)|ovary(36)|kidney(32)|breast(32)|biliary_tract(16)|thyroid(15)|NS(14)|stomach(14)|large_intestine(7)|autonomic_ganglia(7)|meninges(7)|liver(6)|salivary_gland(4)|thymus(4)|vulva(3)|endometrium(3)|prostate(2)	NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199	GRCh37	CM014695	CDKN2A	M	rs121913388	c.(238-240)Cga>Tga		cyclin-dependent kinase inhibitor 2A							11	14	13					9																	21971120		2172	4246	6418	SO:0001587	stop_gained	1029				cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	g.chr9:21971120G>A	L27211	CCDS6510.1, CCDS6511.1, CCDS6511.2, CCDS56565.1	9p21	2014-09-17	2012-03-08		ENSG00000147889	ENSG00000147889			1787	protein-coding gene	gene with protein product		600160	"cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4)"	CDKN2, MLM		8152487, 7606716	Standard	NM_058195		Approved	CDK4I, p16, INK4a, MTS1, CMM2, ARF, p19, p14, INK4, p16INK4a, p19Arf	uc003zpk.3	P42771	OTTHUMG00000019686	ENST00000304494.5:c.238C>T	9.37:g.21971120G>A	ENSP00000307101:p.Arg80*	HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)				CDKN2A_ENST00000497750.1_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000494262.1_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000578845.2_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000498628.2_Nonsense_Mutation_p.R29*|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000361570.3_Missense_Mutation_p.P135L|CDKN2A_ENST00000579755.1_Missense_Mutation_p.P94L|CDKN2A_ENST00000498124.1_Nonsense_Mutation_p.R80*|CDKN2A_ENST00000579122.1_Nonsense_Mutation_p.R80*|CDKN2A_ENST00000446177.1_Nonsense_Mutation_p.R80*|CDKN2A_ENST00000479692.2_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000530628.2_Missense_Mutation_p.P94L	p.R80*	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)	2	508	-		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)	80		R -> L (in a head and neck tumor).|R -> P (in CMM2; loss of CDK4 binding).			A5X2G7|D3DRK1|O95440|Q15191|Q5VVJ5|Q96B52|Q9NP05	Nonsense_Mutation	SNP	ENST00000304494.5	37	c.238C>T	CCDS6510.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	39|39	7.328457|7.328457	0.98214|0.98214	.|.	.|.	ENSG00000147889|ENSG00000147889	ENST00000361570;ENST00000530628|ENST00000304494;ENST00000446177	D;D|.	0.86497|.	-2.13;-2.02|.	5.93|5.93	5.01|5.01	0.66863|0.66863	.|.	0.000000|.	0.37136|.	N|.	0.002233|.	T|.	0.44561|.	0.1299|.	L|L	0.36672|0.36672	1.1|1.1	0.47511|0.47511	D|D	0.999443|0.999443	D|.	0.59357|.	0.985|.	B|.	0.40602|.	0.334|.	T|.	0.34825|.	-0.9813|.	10|.	0.13108|0.02654	T|T	0.6|1	-2.989|-2.989	8.7197|8.7197	0.34434|0.34434	0.0759:0.0:0.7715:0.1526|0.0759:0.0:0.7715:0.1526	.|.	135|.	Q8N726|.	CD2A2_HUMAN|.	L|X	135;94|80	ENSP00000355153:P135L;ENSP00000432664:P94L|.	ENSP00000355153:P135L|ENSP00000307101:R80X	P|R	-|-	2|1	0|2	CDKN2A|CDKN2A	21961120|21961120	0.995000|0.995000	0.38212|0.38212	1.000000|1.000000	0.80357|0.80357	0.899000|0.899000	0.52679|0.52679	2.363000|2.363000	0.44178|0.44178	1.464000|1.464000	0.47987|0.47987	0.650000|0.650000	0.86243|0.86243	CCG|CGA		0.726	CDKN2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000051915.1	NM_000077		10	15	0	0	0	1	0	10	15					A	21971120	G	A	21971120	4	1	286	1	0	0	0	0	0	1	0	0	3161	1125	39	2	240	2	CDKN2A	9	21971120	Nonsense_Mutation	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	3313468	21971120	119242311	315	13445											
CDKN2B	1030	broad.mit.edu	37	chr9	22006196	22006196	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgcgcagttgggctccgcGccgtggagcagcagcagctc	5	7	15	14	4	1	0	0	0	1	0	3	1	2	1	2	2	5	7	2	2	0	1			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr9:22006196G>A	ENST00000276925.6	-	2	616	c.207C>T	c.(205-207)ggC>ggT	p.G69G	CDKN2B-AS1_ENST00000428597.1_RNA|CDKN2B-AS1_ENST00000580467.1_RNA|CDKN2B-AS1_ENST00000583719.1_RNA|CDKN2B-AS1_ENST00000581051.1_RNA|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2B-AS1_ENST00000455933.2_RNA|CDKN2B-AS1_ENST00000584351.1_RNA|CDKN2B-AS1_ENST00000584816.1_RNA|CDKN2B-AS1_ENST00000584637.1_RNA|CDKN2B-AS1_ENST00000584020.1_RNA|CDKN2B-AS1_ENST00000582072.1_RNA|CDKN2B-AS1_ENST00000585267.1_RNA|CDKN2B-AS1_ENST00000468603.2_RNA|CDKN2B-AS1_ENST00000577551.1_RNA|CDKN2B_ENST00000380142.4_3'UTR|CDKN2B-AS1_ENST00000580576.1_RNA|CDKN2B-AS1_ENST00000582301.1_RNA	NM_004936.3|NM_078487.2	NP_004927.2|NP_511042.1	P42772	CDN2B_HUMAN	cyclin-dependent kinase inhibitor 2B (p15, inhibits CDK4)	69					aging (GO:0007568)|cell cycle arrest (GO:0007050)|cellular response to extracellular stimulus (GO:0031668)|cellular response to nutrient (GO:0031670)|G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|liver development (GO:0001889)|megakaryocyte differentiation (GO:0030219)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of phosphorylation (GO:0042326)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|response to cytokine (GO:0034097)|response to organic cyclic compound (GO:0014070)|spleen development (GO:0048536)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|protein kinase binding (GO:0019901)	p.0(1)|p.0?(1)		lung(2)	2		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;1.31e-280)|Lung NSC(2;2.28e-131)|all_lung(2;2.11e-123)|Glioma(2;5.66e-57)|all_neural(2;3.05e-50)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;8.01e-33)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00369)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;3.29e-71)|Epithelial(2;9.08e-60)|LUSC - Lung squamous cell carcinoma(2;5.8e-46)|LUAD - Lung adenocarcinoma(2;1.43e-25)|BRCA - Breast invasive adenocarcinoma(2;5.37e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;6.92e-07)|KIRC - Kidney renal clear cell carcinoma(2;8.63e-07)|OV - Ovarian serous cystadenocarcinoma(39;0.014)|COAD - Colon adenocarcinoma(8;0.143)		TGGGCTCCGCGCCGTGGAGCA	0.692																																						ENST00000276925.6																			2	Whole gene deletion(2)	p.0(1)|p.0?(1)	lung(2)	lung(2)	2						c.(205-207)ggC>ggT		cyclin-dependent kinase inhibitor 2B (p15, inhibits CDK4)							14	18	17					9																	22006196		2192	4290	6482	SO:0001819	synonymous_variant	1030				cell cycle arrest|cellular response to nutrient|G1 phase of mitotic cell cycle|G2/M transition of mitotic cell cycle|megakaryocyte differentiation|mitotic cell cycle G1/S transition checkpoint|negative regulation of epithelial cell proliferation|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of cyclin-dependent protein kinase activity	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|protein kinase binding	g.chr9:22006196G>A	AB060808	CCDS6512.1, CCDS6513.1	9p21	2008-07-21			ENSG00000147883	ENSG00000147883			1788	protein-coding gene	gene with protein product		600431				8078588	Standard	NM_004936		Approved	P15, MTS2, INK4B, TP15, CDK4I, p15INK4b	uc003zpo.3	P42772	OTTHUMG00000019691	ENST00000276925.6:c.207C>T	9.37:g.22006196G>A						CDKN2B-AS1_ENST00000455933.2_RNA|CDKN2B-AS1_ENST00000584020.1_RNA|CDKN2B-AS1_ENST00000584351.1_RNA|CDKN2B-AS1_ENST00000428597.1_RNA|CDKN2B_ENST00000380142.4_3'UTR|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2B-AS1_ENST00000580576.1_RNA|CDKN2B-AS1_ENST00000582301.1_RNA|CDKN2B-AS1_ENST00000584637.1_RNA|CDKN2B-AS1_ENST00000577551.1_RNA|CDKN2B-AS1_ENST00000468603.2_RNA|CDKN2B-AS1_ENST00000582072.1_RNA|CDKN2B-AS1_ENST00000581051.1_RNA|CDKN2B-AS1_ENST00000584816.1_RNA|CDKN2B-AS1_ENST00000580467.1_RNA|CDKN2B-AS1_ENST00000583719.1_RNA|CDKN2B-AS1_ENST00000585267.1_RNA	p.G69G	NM_004936.3|NM_078487.2	NP_004927.2|NP_511042.1	P42772	CDN2B_HUMAN		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;3.29e-71)|Epithelial(2;9.08e-60)|LUSC - Lung squamous cell carcinoma(2;5.8e-46)|LUAD - Lung adenocarcinoma(2;1.43e-25)|BRCA - Breast invasive adenocarcinoma(2;5.37e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;6.92e-07)|KIRC - Kidney renal clear cell carcinoma(2;8.63e-07)|OV - Ovarian serous cystadenocarcinoma(39;0.014)|COAD - Colon adenocarcinoma(8;0.143)	2	616	-		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;1.31e-280)|Lung NSC(2;2.28e-131)|all_lung(2;2.11e-123)|Glioma(2;5.66e-57)|all_neural(2;3.05e-50)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;8.01e-33)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00369)|Colorectal(97;0.172)	69					O15125|Q6FI09	Silent	SNP	ENST00000276925.6	37	c.207C>T	CCDS6512.1																																																																																				0.692	CDKN2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051932.2	NM_004936		7	32	0	0	0	1	0	7	32					A	22006196	G	A	22006196	2	1	286	1	0	0	0	0	0	0	0	1	3164	1074	38	1		1	CDKN2B	9	22006196	Silent	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	35076	22006196	119207235	316	13446											
B4GALT1	2683	broad.mit.edu	37	chr9	33135375	33135375	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atttgggttctgctttgccaCgagctccaggtccacaggca	7	11	11	12	1	1	0	0	0	1	0	3	1	3	0	3	3	3	4	3	3	0	3			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr9:33135375C>T	ENST00000379731.4	-	2	646	c.460G>A	c.(460-462)Gtg>Atg	p.V154M	B4GALT1_ENST00000535206.1_Missense_Mutation_p.V154M	NM_001497.3	NP_001488.2	P15291	B4GT1_HUMAN	UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 1	154					acute inflammatory response (GO:0002526)|angiogenesis involved in wound healing (GO:0060055)|binding of sperm to zona pellucida (GO:0007339)|branching morphogenesis of an epithelial tube (GO:0048754)|carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|development of secondary sexual characteristics (GO:0045136)|epithelial cell development (GO:0002064)|extracellular matrix organization (GO:0030198)|galactose metabolic process (GO:0006012)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|lactose biosynthetic process (GO:0005989)|leukocyte migration (GO:0050900)|mammary gland development (GO:0030879)|multicellular organism reproduction (GO:0032504)|negative regulation of cell proliferation (GO:0008285)|Notch signaling pathway (GO:0007219)|oligosaccharide biosynthetic process (GO:0009312)|penetration of zona pellucida (GO:0007341)|positive regulation of apoptotic process involved in mammary gland involution (GO:0060058)|positive regulation of epithelial cell proliferation involved in wound healing (GO:0060054)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)|regulation of acrosome reaction (GO:0060046)|regulation of cellular component movement (GO:0051270)|single fertilization (GO:0007338)|small molecule metabolic process (GO:0044281)	basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|desmosome (GO:0030057)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|glycocalyx (GO:0030112)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi trans cisterna (GO:0000138)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	alpha-tubulin binding (GO:0043014)|beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity (GO:0003831)|beta-tubulin binding (GO:0048487)|galactosyltransferase activity (GO:0008378)|lactose synthase activity (GO:0004461)|manganese ion binding (GO:0030145)|N-acetyllactosamine synthase activity (GO:0003945)|protein homodimerization activity (GO:0042803)|UDP-galactosyltransferase activity (GO:0035250)			endometrium(1)|large_intestine(7)|lung(4)|prostate(1)|skin(1)	14			LUSC - Lung squamous cell carcinoma(29;0.0084)	GBM - Glioblastoma multiforme(74;0.121)	N-Acetyl-D-glucosamine(DB00141)	TGCTTTGCCACGAGCTCCAGG	0.587																																						ENST00000379731.4																			0				endometrium(1)|large_intestine(7)|lung(4)|prostate(1)|skin(1)	14						c.(460-462)Gtg>Atg		UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 1	N-Acetyl-D-glucosamine(DB00141)						86	72	77					9																	33135375		2203	4300	6503	SO:0001583	missense	2683				oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	basolateral plasma membrane|brush border membrane|desmosome|external side of plasma membrane|extracellular region|glycocalyx|Golgi cisterna membrane|Golgi trans cisterna|integral to membrane	alpha-tubulin binding|beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity|beta-tubulin binding|lactose synthase activity|metal ion binding|N-acetyllactosamine synthase activity|protein binding|protein homodimerization activity	g.chr9:33135375C>T	X14085	CCDS6535.1	9p13	2013-02-19			ENSG00000086062	ENSG00000086062	2.4.1.22	"Beta 4-glycosyltransferases"	924	protein-coding gene	gene with protein product		137060		GGTB2		9597550	Standard	NM_001497		Approved	beta4Gal-T1	uc003zsg.2	P15291	OTTHUMG00000019764	ENST00000379731.4:c.460G>A	9.37:g.33135375C>T	ENSP00000369055:p.Val154Met					B4GALT1_ENST00000535206.1_Missense_Mutation_p.V154M	p.V154M	NM_001497.3	NP_001488.2	P15291	B4GT1_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0084)	GBM - Glioblastoma multiforme(74;0.121)	2	646	-			154					B2R710|D3DRL2|Q12909|Q12910|Q12911|Q14456|Q14509|Q14523	Missense_Mutation	SNP	ENST00000379731.4	37	c.460G>A	CCDS6535.1	.	.	.	.	.	.	.	.	.	.	C	14.58	2.578702	0.46006	.	.	ENSG00000086062	ENST00000535206;ENST00000379731;ENST00000541701	T;T	0.23348	1.91;1.91	4.72	0.46	0.16684	.	0.395914	0.27451	N	0.019312	T	0.37919	0.1021	M	0.83483	2.645	0.50467	D	0.999876	D	0.67145	0.996	P	0.58210	0.835	T	0.24368	-1.0162	10	0.59425	D	0.04	-18.3825	1.2295	0.01941	0.2123:0.2788:0.34:0.1688	.	154	P15291	B4GT1_HUMAN	M	154;154;111	ENSP00000440341:V154M;ENSP00000369055:V154M	ENSP00000369055:V154M	V	-	1	0	B4GALT1	33125375	0.266000	0.24112	0.418000	0.26571	0.487000	0.33371	0.748000	0.26305	0.215000	0.20761	0.655000	0.94253	GTG		0.587	B4GALT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052039.1	NM_001497		4	24	0	0	0	1	0	4	24					T	33135375	C	T	33135375	3	4	286	1	0	0	0	0	1	0	0	0	1270	536	19	1	756	1	B4GALT1	9	33135375	Missense_Mutation	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	11129179	33135375	108078056	317	13447											
ANKRD20A1	84210	broad.mit.edu	37	chr9	67951950	67951950	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcagtgtgtccccgagaaaGtgtcagagcctttacctgga	10	9	12	10	1	1	2	1	0	0	2	2	4	2	3	4	1	3	1	4	1	2	2			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr9:67951950G>A	ENST00000377477.2	+	9	1025	c.913G>A	c.(913-915)Gtg>Atg	p.V305M		NM_032250.3	NP_115626.2	Q5TYW2	A20A1_HUMAN	ankyrin repeat domain 20 family, member A1	305						plasma membrane (GO:0005886)				kidney(1)|large_intestine(4)|lung(5)|urinary_tract(1)	11						CCCCGAGAAAGTGTCAGAGCC	0.343																																						ENST00000377477.2																			0				kidney(1)|large_intestine(4)|lung(5)|urinary_tract(1)	11						c.(913-915)Gtg>Atg		ankyrin repeat domain 20 family, member A1							108	107	108					9																	67951950		1335	2277	3612	SO:0001583	missense	84210							g.chr9:67951950G>A	AL136793	CCDS6620.1	9p12	2014-04-16	2005-08-23	2005-08-23	ENSG00000196774	ENSG00000260691		"Ankyrin repeat domain containing"	23665	protein-coding gene	gene with protein product			"ankyrin repeat domain 20A"	ANKRD20A			Standard	NM_032250		Approved	DKFZp434A171		Q5TYW2	OTTHUMG00000188594	ENST00000377477.2:c.913G>A	9.37:g.67951950G>A	ENSP00000366697:p.Val305Met						p.V305M	NM_032250.3	NP_115626.2					9	1025	+								Q9H0H6	Missense_Mutation	SNP	ENST00000377477.2	37	c.913G>A	CCDS6620.1	.	.	.	.	.	.	.	.	.	.	.	9.643	1.139593	0.21205	.	.	ENSG00000196774	ENST00000377477	T	0.37915	1.17	1.19	1.19	0.21007	.	.	.	.	.	T	0.17916	0.0430	N	0.14661	0.345	0.09310	N	1	B	0.25486	0.127	B	0.12837	0.008	T	0.18085	-1.0348	9	0.33940	T	0.23	.	5.2341	0.15437	0.0:0.6281:0.3719:0.0	.	305	Q5TYW2	A20A1_HUMAN	M	305	ENSP00000366697:V305M	ENSP00000366697:V305M	V	+	1	0	ANKRD20A1	67541770	0.001000	0.12720	0.007000	0.13788	0.000000	0.00434	-0.034000	0.12225	0.107000	0.17824	0.000000	0.15137	GTG		0.343	ANKRD20A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083800.1			16	103	0	0	0	1	0	16	103					A	67951950	G	A	67951950	3	1	286	1	0	0	0	0	1	0	0	0	648	1029	36	3	947	3	ANKRD20A1	9	67951950	Missense_Mutation	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	34816575	67951950	73261481	318	13448											
PRKACG	5568	broad.mit.edu	37	chr9	71628907	71628907	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gagctggcggtgttttgagcGgggtttccccatctgtagag	5	12	16	8	2	1	2	0	1	1	1	2	3	2	2	2	4	2	4	2	4	1	4			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr9:71628907G>A	ENST00000377276.2	-	1	132	c.102C>T	c.(100-102)ccC>ccT	p.P34P		NM_002732.3	NP_002723.2	P22612	KAPCG_HUMAN	protein kinase, cAMP-dependent, catalytic, gamma	34					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|blood coagulation (GO:0007596)|carbohydrate metabolic process (GO:0005975)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|male gonad development (GO:0008584)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)|transmembrane transport (GO:0055085)|triglyceride catabolic process (GO:0019433)|water transport (GO:0006833)	cytosol (GO:0005829)	ATP binding (GO:0005524)|cAMP-dependent protein kinase activity (GO:0004691)			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	22						TGTTTTGAGCGGGGTTTCCCC	0.627																																					Esophageal Squamous(110;2236 2623 32146)	ENST00000377276.2																			0				central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	22						c.(100-102)ccC>ccT		protein kinase, cAMP-dependent, catalytic, gamma							72	74	74					9																	71628907		2203	4300	6503	SO:0001819	synonymous_variant	5568				activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|gluconeogenesis|intracellular protein kinase cascade|male gonad development|nerve growth factor receptor signaling pathway|regulation of insulin secretion|spermatogenesis|transmembrane transport|triglyceride catabolic process|water transport	cytosol|nucleoplasm	ATP binding|cAMP-dependent protein kinase activity	g.chr9:71628907G>A	M34182	CCDS6625.1	9q13	2012-10-02			ENSG00000165059	ENSG00000165059	2.7.11.1		9382	protein-coding gene	gene with protein product		176893				2342480, 9598317	Standard	NM_002732		Approved	PKACg	uc004agy.3	P22612	OTTHUMG00000019974	ENST00000377276.2:c.102C>T	9.37:g.71628907G>A							p.P34P	NM_002732.3	NP_002723.2	P22612	KAPCG_HUMAN			1	132	-			34					O60850|Q5VZ02|Q86YI1	Silent	SNP	ENST00000377276.2	37	c.102C>T	CCDS6625.1																																																																																				0.627	PRKACG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052559.1			10	38	0	0	0	1	0	10	38					A	71628907	G	A	71628907	2	1	286	1	0	0	0	0	0	0	0	1	12499	1103	39	2		2	PRKACG	9	71628907	Silent	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	3676957	71628907	69584524	319	13449											
FOXB2	442425	broad.mit.edu	37	chr9	79634892	79634892	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcttcctgcggcgtcgcaagCgcttcaaggtgctgcgcgcc	4	8	14	15	6	1	0	1	0	0	0	3	0	2	0	2	2	4	4	2	2	2	2			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr9:79634892C>T	ENST00000376708.1	+	1	322	c.322C>T	c.(322-324)Cgc>Tgc	p.R108C		NM_001013735.1	NP_001013757.1	Q5VYV0	FOXB2_HUMAN	forkhead box B2	108					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|lung(8)|ovary(1)	10						GCGTCGCAAGCGCTTCAAGGT	0.692																																						ENST00000376708.1																			0				breast(1)|lung(8)|ovary(1)	10						c.(322-324)Cgc>Tgc		forkhead box B2							25	29	28					9																	79634892		2202	4300	6502	SO:0001583	missense	442425				brain development|embryo development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chr9:79634892C>T		CCDS35045.1	9q21.2	2008-02-05			ENSG00000204612	ENSG00000204612		"Forkhead boxes"	23315	protein-coding gene	gene with protein product							Standard	NM_001013735		Approved	bA159H20.4	uc004ako.1	Q5VYV0	OTTHUMG00000020051	ENST00000376708.1:c.322C>T	9.37:g.79634892C>T	ENSP00000365898:p.Arg108Cys						p.R108C	NM_001013735.1	NP_001013757.1	Q5VYV0	FOXB2_HUMAN			1	322	+			108						Missense_Mutation	SNP	ENST00000376708.1	37	c.322C>T	CCDS35045.1	.	.	.	.	.	.	.	.	.	.	C	17.52	3.409822	0.62399	.	.	ENSG00000204612	ENST00000376708	D	0.96104	-3.91	4.29	4.29	0.51040	Winged helix-turn-helix transcription repressor DNA-binding (1);Transcription factor, fork head (1);	0.000000	0.85682	D	0.000000	D	0.97964	0.9330	M	0.92077	3.27	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.98611	1.0663	10	0.87932	D	0	.	11.937	0.52878	0.1739:0.8261:0.0:0.0	.	108	Q5VYV0	FOXB2_HUMAN	C	108	ENSP00000365898:R108C	ENSP00000365898:R108C	R	+	1	0	FOXB2	78824712	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.871000	0.48459	1.923000	0.55706	0.462000	0.41574	CGC		0.692	FOXB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052745.1	NM_001013735		11	44	0	0	0	1	0	11	44					T	79634892	C	T	79634892	3	4	286	1	0	0	0	0	1	0	0	0	5993	768	27	1	324	1	FOXB2	9	79634892	Missense_Mutation	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	8005985	79634892	61578539	320	13450											
VPS13A	23230	broad.mit.edu	37	chr9	79898329	79898329	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagattttagcagaattatcGtgtttacagatctttattca	12	17	6	6	1	2	3	1	0	1	3	3	3	2	3	0	0	2	2	0	0	5	8			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr9:79898329G>A	ENST00000360280.3	+	30	3437	c.3177G>A	c.(3175-3177)tcG>tcA	p.S1059S	VPS13A_ENST00000376636.3_Intron|VPS13A_ENST00000357409.5_Silent_p.S1059S|VPS13A_ENST00000376634.4_Silent_p.S1059S|VPS13A_ENST00000423463.2_3'UTR	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13 homolog A (S. cerevisiae)	1059					cell death (GO:0008219)|Golgi to endosome transport (GO:0006895)|locomotory behavior (GO:0007626)|nervous system development (GO:0007399)|protein localization (GO:0008104)|protein transport (GO:0015031)|social behavior (GO:0035176)	dense core granule (GO:0031045)|intracellular (GO:0005622)				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						CAGAATTATCGTGTTTACAGA	0.244																																						ENST00000360280.3																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						c.(3175-3177)tcG>tcA		vacuolar protein sorting 13 homolog A (S. cerevisiae)							30	32	31					9																	79898329		2189	4278	6467	SO:0001819	synonymous_variant	23230				Golgi to endosome transport|protein transport	intracellular	protein binding	g.chr9:79898329G>A	AB023203	CCDS6655.1, CCDS6656.1, CCDS47983.1, CCDS55321.1	9q21	2014-01-30	2006-04-04	2004-02-11	ENSG00000197969	ENSG00000197969			1908	protein-coding gene	gene with protein product	"chorein"	605978	"chorea acanthocytosis", "vacuolar protein sorting 13A (yeast)"	CHAC		9382101, 11381253	Standard	NM_001018038		Approved	KIAA0986	uc004akr.3	Q96RL7	OTTHUMG00000020055	ENST00000360280.3:c.3177G>A	9.37:g.79898329G>A						VPS13A_ENST00000357409.5_Silent_p.S1059S|VPS13A_ENST00000423463.2_3'UTR|VPS13A_ENST00000376634.4_Silent_p.S1059S|VPS13A_ENST00000376636.3_Intron	p.S1059S	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN			30	3437	+			1059					Q5JSX9|Q5JSY0|Q5VYR5|Q702P4|Q709D0|Q86YF8|Q96S61|Q9H995|Q9Y2J1	Silent	SNP	ENST00000360280.3	37	c.3177G>A	CCDS6655.1																																																																																				0.244	VPS13A-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052753.2	NM_015186		4	12	0	0	0	1	0	4	12					A	79898329	G	A	79898329	2	1	286	1	0	0	0	0	0	0	0	1	17186	1132	40	1		1	VPS13A	9	79898329	Silent	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	263437	79898329	61315102	321	13451											
C9orf79	286234	broad.mit.edu	37	chr9	90502868	90502868	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctgtccacctcccagagtGtgtctggtaagaacatgaca	10	10	9	12	0	2	3	0	1	2	2	4	3	4	3	3	1	1	1	3	1	2	1			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr9:90502868G>A	ENST00000325643.5	+	4	3532	c.3466G>A	c.(3466-3468)Gtg>Atg	p.V1156M		NM_178828.4	NP_849150.3	Q6ZUB1	S31E1_HUMAN	SPATA31 subfamily E, member 1	1156					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											CTCCCAGAGTGTGTCTGGTAA	0.632																																						ENST00000325643.5																			0											c.(3466-3468)Gtg>Atg		SPATA31 subfamily E, member 1							37	41	39					9																	90502868		2203	4300	6503	SO:0001583	missense	286234							g.chr9:90502868G>A	AK093185	CCDS6676.1	9q22.1-q22.2	2012-10-12	2012-10-12	2012-10-12	ENSG00000177992	ENSG00000177992			26672	protein-coding gene	gene with protein product			"chromosome 9 open reading frame 79", "family with sequence similarity 75, member E1"	C9orf79, FAM75E1			Standard	NM_178828		Approved	FLJ35866	uc004app.4	Q6ZUB1	OTTHUMG00000020157	ENST00000325643.5:c.3466G>A	9.37:g.90502868G>A	ENSP00000322640:p.Val1156Met						p.V1156M	NM_178828.4	NP_849150.3					4	3532	+								B2RPB1|Q5SQC9|Q8NA41|Q8ND27	Missense_Mutation	SNP	ENST00000325643.5	37	c.3466G>A	CCDS6676.1	.	.	.	.	.	.	.	.	.	.	g	8.244	0.807575	0.16467	.	.	ENSG00000177992	ENST00000325643	T	0.03524	3.9	3.03	-6.07	0.02158	.	5.776640	0.00357	N	0.000023	T	0.01765	0.0056	N	0.08118	0	0.09310	N	1	B	0.30236	0.274	B	0.26517	0.07	T	0.32161	-0.9917	10	0.30078	T	0.28	.	0.8443	0.01157	0.1484:0.2474:0.2348:0.3693	.	1156	Q6ZUB1	CI079_HUMAN	M	1156	ENSP00000322640:V1156M	ENSP00000322640:V1156M	V	+	1	0	C9orf79	89692688	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.533000	0.06157	-3.310000	0.00190	-0.345000	0.07892	GTG		0.632	SPATA31E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052954.2	NM_178828		12	40	0	0	0	1	0	12	40					A	90502868	G	A	90502868	3	1	286	1	0	0	0	0	1	0	0	0	2497	1377	48	3	3480	3	C9orf79	9	90502868	Missense_Mutation	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	10604539	90502868	50710563	322	13452											
C9orf89	84270	broad.mit.edu	37	chr9	95869990	95869990	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaccgcctggtgcaggacacGcctttcctgacaggccatgg	7	7	13	14	2	0	1	0	1	0	0	1	3	1	2	5	4	1	1	5	4	0	1			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr9:95869990G>A	ENST00000375464.2	+	2	170	c.42G>A	c.(40-42)acG>acA	p.T14T		NM_032310.3	NP_115686.3	Q96LW7	BINCA_HUMAN	chromosome 9 open reading frame 89	14	CARD.				negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	CARD domain binding (GO:0050700)			endometrium(1)|kidney(1)|lung(3)|ovary(1)|skin(1)	7						TGCAGGACACGCCTTTCCTGA	0.562																																						ENST00000375464.2																			0				endometrium(1)|kidney(1)|lung(3)|ovary(1)|skin(1)	7						c.(40-42)acG>acA		chromosome 9 open reading frame 89							96	71	80					9																	95869990		2203	4300	6503	SO:0001819	synonymous_variant	84270				negative regulation of I-kappaB kinase/NF-kappaB cascade	cytosol|nucleus	CARD domain binding	g.chr9:95869990G>A	AK057716	CCDS6702.2	9q22.32	2012-03-16			ENSG00000165233	ENSG00000165233			28148	protein-coding gene	gene with protein product	"Bcl10-interacting protein with CARD"					12477932	Standard	XM_005252273		Approved	MGC11115, bA370F5.1, BinCARD	uc004atd.3	Q96LW7	OTTHUMG00000020243	ENST00000375464.2:c.42G>A	9.37:g.95869990G>A							p.T14T	NM_032310.3	NP_115686.3	Q96LW7	BINCA_HUMAN			2	170	+			14			CARD.		Q5BJH8|Q9BSY2	Silent	SNP	ENST00000375464.2	37	c.42G>A	CCDS6702.2																																																																																				0.562	C9orf89-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053128.1	NM_032310		5	27	0	0	0	1	0	5	27					A	95869990	G	A	95869990	2	1	286	1	0	0	0	0	0	0	0	1	2503	1074	38	1		1	C9orf89	9	95869990	Silent	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	5367122	95869990	45343441	323	13453											
GABBR2	9568	broad.mit.edu	37	chr9	101258793	101258793	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aactccagtcaggtcattccGcacctgtcagcaaagagaaa	14	7	8	12	1	3	1	3	0	0	1	5	2	5	1	3	1	2	2	3	1	3	1			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr9:101258793G>A	ENST00000259455.2	-	4	1093	c.634C>T	c.(634-636)Cgg>Tgg	p.R212W	GABBR2_ENST00000477471.1_5'UTR	NM_005458.7	NP_005449.5	O75899	GABR2_HUMAN	gamma-aminobutyric acid (GABA) B receptor, 2	212					G-protein coupled receptor signaling pathway (GO:0007186)|gamma-aminobutyric acid signaling pathway (GO:0007214)|negative regulation of adenylate cyclase activity (GO:0007194)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|G-protein coupled receptor heterodimeric complex (GO:0038039)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	G-protein coupled GABA receptor activity (GO:0004965)		NOTCH1_ENST00000277541/GABBR2(2)	breast(4)|endometrium(4)|large_intestine(12)|lung(21)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	49		Acute lymphoblastic leukemia(62;0.0527)			Baclofen(DB00181)	AGGTCATTCCGCACCTGTCAG	0.547																																						ENST00000259455.2																		NOTCH1_ENST00000277541/GABBR2(2)	0				breast(4)|endometrium(4)|large_intestine(12)|lung(21)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	49						c.(634-636)Cgg>Tgg		gamma-aminobutyric acid (GABA) B receptor, 2	Baclofen(DB00181)						100	88	92					9																	101258793		2203	4300	6503	SO:0001583	missense	9568				negative regulation of adenylate cyclase activity|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic membrane	G-protein coupled receptor activity|GABA-B receptor activity	g.chr9:101258793G>A	AF069755	CCDS6736.1	9q22.1-q22.3	2012-08-29	2006-02-16	2006-02-16	ENSG00000136928	ENSG00000136928		"GABA receptors", "GPCR / Class C : GABA(B) receptors"	4507	protein-coding gene	gene with protein product		607340	"G protein-coupled receptor 51"	GPR51		10087195	Standard	NM_005458		Approved	HG20, GABABR2, GPRC3B	uc004ays.3	O75899	OTTHUMG00000020345	ENST00000259455.2:c.634C>T	9.37:g.101258793G>A	ENSP00000259455:p.Arg212Trp					GABBR2_ENST00000477471.1_5'UTR	p.R212W	NM_005458.7	NP_005449.5	O75899	GABR2_HUMAN			4	1093	-		Acute lymphoblastic leukemia(62;0.0527)	212					O75974|O75975|Q5VXZ2|Q8WX04|Q9P1R2|Q9UNR1|Q9UNS9	Missense_Mutation	SNP	ENST00000259455.2	37	c.634C>T	CCDS6736.1	.	.	.	.	.	.	.	.	.	.	G	17.61	3.432521	0.62844	.	.	ENSG00000136928	ENST00000259455	D	0.82711	-1.64	5.79	4.66	0.58398	Extracellular ligand-binding receptor (1);	0.000000	0.85682	D	0.000000	D	0.85660	0.5748	L	0.40543	1.245	0.80722	D	1	D	0.89917	1.0	D	0.69824	0.966	D	0.84248	0.0476	10	0.41790	T	0.15	-11.185	11.2463	0.48998	0.0:0.0:0.1612:0.8388	.	212	O75899	GABR2_HUMAN	W	212	ENSP00000259455:R212W	ENSP00000259455:R212W	R	-	1	2	GABBR2	100298614	1.000000	0.71417	1.000000	0.80357	0.824000	0.46624	2.746000	0.47467	1.032000	0.39892	-0.521000	0.04368	CGG		0.547	GABBR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053373.1			5	28	0	0	0	1	0	5	28					A	101258793	G	A	101258793	3	1	286	1	0	0	0	0	1	0	0	0	6156	1086	38	1	2255	1	GABBR2	9	101258793	Missense_Mutation	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	5388803	101258793	39954638	324	13454											
AKAP2	11217	broad.mit.edu	37	chr9	112898442	112898442	+	5'UTR	DEL	A	A	-																															tctgaggatgatatctggctAaaaagcgagggagacaacta																										TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr9:112898442delA	ENST00000259318.7	+	0	132				AKAP2_ENST00000434623.2_Frame_Shift_Del_p.L64fs|AKAP2_ENST00000374525.1_Frame_Shift_Del_p.L64fs|AKAP2_ENST00000510514.5_Frame_Shift_Del_p.L206fs|AKAP2_ENST00000555236.1_Frame_Shift_Del_p.L206fs|PALM2-AKAP2_ENST00000302798.7_Frame_Shift_Del_p.L206fs|PALM2-AKAP2_ENST00000374530.3_Frame_Shift_Del_p.L206fs	NM_001136562.2	NP_001130034.1	Q9Y2D5	AKAP2_HUMAN	A kinase (PRKA) anchor protein 2											breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	33						ATATCTGGCTAAAAAGCGAGG	0.463																																						ENST00000374530.3																			0				breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	44						c.(616-618)ctfs									68	73	71					9																	112898442		2203	4300	6503	SO:0001623	5_prime_UTR_variant	0						enzyme binding	g.chr9:112898442delA	AB023137	CCDS43861.1, CCDS48003.1, CCDS56581.1	9q31.3	2009-10-16			ENSG00000241978	ENSG00000241978		"A-kinase anchor proteins"	372	protein-coding gene	gene with protein product	"protein kinase A2"	604582		PRKA2		10231032	Standard	NM_001136562		Approved	AKAP-KL, KIAA0920, DKFZp564L0716		Q9Y2D5	OTTHUMG00000156811	ENST00000259318.7:c.-76A>-	9.37:g.112898442delA						AKAP2_ENST00000374525.1_Frame_Shift_Del_p.L64fs|AKAP2_ENST00000259318.7_5'UTR|PALM2-AKAP2_ENST00000302798.7_Frame_Shift_Del_p.L206fs|AKAP2_ENST00000434623.2_Frame_Shift_Del_p.L64fs|AKAP2_ENST00000555236.1_Frame_Shift_Del_p.L206fs|AKAP2_ENST00000510514.5_Frame_Shift_Del_p.L206fs	p.L206fs	NM_007203.4|NM_147150.2	NP_009134.1|NP_671492.1	Q9Y2D5	AKAP2_HUMAN			8	798	+			197					B1ALX9|B2RTU4|B3KQ00|B4DTZ2|B7ZW07|B9EJB5|Q9UG26	Frame_Shift_Del	DEL	ENST00000259318.7	37	c.618delA	CCDS48003.1																																																																																				0.463	AKAP2-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000346067.3	NM_001004065		12	68						12	68	---	---	---	---	-	112898442	A	-	112898442	6	5	286	0	1	1	0	1	0	0	0	0	451	349	13	0		0	AKAP2	9	112898442	5'UTR	DEL	A	TCGA-J9-A52C-01A-11D-A26M-08	11639649	112898442	28314989	325	13455											
COL27A1	85301	broad.mit.edu	37	chr9	116984538	116984538	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaggcccccctggagtcccCggcctcattgtaagtacatt	7	9	9	16	1	1	0	1	0	0	0	2	1	2	1	7	3	1	2	7	3	2	4			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr9:116984538C>T	ENST00000356083.3	+	14	2848	c.2457C>T	c.(2455-2457)ccC>ccT	p.P819P		NM_032888.2	NP_116277.2	Q8IZC6	CORA1_HUMAN	collagen, type XXVII, alpha 1	819	Collagen-like 4.|Pro-rich.|Triple-helical region.				extracellular matrix organization (GO:0030198)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|fibrillar collagen trimer (GO:0005583)	extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)			central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						CTGGAGTCCCCGGCCTCATTG	0.637																																						ENST00000356083.3																			0				central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						c.(2455-2457)ccC>ccT		collagen, type XXVII, alpha 1							66	73	71					9																	116984538		2203	4300	6503	SO:0001819	synonymous_variant	85301				cell adhesion		extracellular matrix structural constituent	g.chr9:116984538C>T	AB058773	CCDS6802.1	9q33.1	2013-01-16			ENSG00000196739	ENSG00000196739		"Collagens"	22986	protein-coding gene	gene with protein product		608461				12766169	Standard	NM_032888		Approved	KIAA1870, MGC11337, FLJ11895	uc011lxl.2	Q8IZC6	OTTHUMG00000020537	ENST00000356083.3:c.2457C>T	9.37:g.116984538C>T							p.P819P	NM_032888.2	NP_116277.2	Q8IZC6	CORA1_HUMAN			14	2848	+			819			Collagen-like 4.|Pro-rich.|Triple-helical region.		Q66K43|Q96JF7	Silent	SNP	ENST00000356083.3	37	c.2457C>T	CCDS6802.1																																																																																				0.637	COL27A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053763.1	NM_032888		25	74	0	0	0	1	0	25	74					T	116984538	C	T	116984538	2	4	286	1	0	0	0	0	0	0	0	1	3685	639	23	2		2	COL27A1	9	116984538	Silent	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	4086096	116984538	24228893	326	13456											
LHX6	26468	broad.mit.edu	37	chr9	124975893	124975893	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gcggttacttactctcaatgTagccgtgcagggtgaccatg	8	11	12	10	2	1	1	1	1	1	0	2	1	1	1	2	2	4	3	2	2	4	3			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr9:124975893T>C	ENST00000373755.2	-	7	1067	c.959A>G	c.(958-960)tAc>tGc	p.Y320C	LHX6_ENST00000340587.3_Missense_Mutation_p.Y349C|LHX6_ENST00000541397.2_Missense_Mutation_p.Y338C|LHX6_ENST00000559895.1_Missense_Mutation_p.Y133C|LHX6_ENST00000482062.1_Missense_Mutation_p.Y7C|LHX6_ENST00000464484.2_Missense_Mutation_p.Y7C|LHX6_ENST00000373754.2_Missense_Mutation_p.Y320C|LHX6_ENST00000394319.4_Missense_Mutation_p.Y349C	NM_001242334.1	NP_001229263.1	Q9UPM6	LHX6_HUMAN	LIM homeobox 6	320					cell maturation (GO:0048469)|cerebral cortex GABAergic interneuron migration (GO:0021853)|cerebral cortex radially oriented cell migration (GO:0021799)|cerebral cortex tangential migration (GO:0021800)|forebrain neuron fate commitment (GO:0021877)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(5)	8						ACTCTCAATGTAGCCGTGCAG	0.736																																						ENST00000559895.1																			0				endometrium(2)|kidney(1)|large_intestine(5)	8						c.(397-399)tAc>tGc		LIM homeobox 6							16	24	21					9																	124975893		2198	4296	6494	SO:0001583	missense	26468				cell maturation|cerebral cortex GABAergic interneuron migration|cerebral cortex radially oriented cell migration|cerebral cortex tangential migration	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr9:124975893T>C	AB031041	CCDS6837.2, CCDS6838.2, CCDS56583.1, CCDS56584.1, CCDS59144.1	9q33.2	2011-06-20			ENSG00000106852	ENSG00000106852		"Homeoboxes / LIM class"	21735	protein-coding gene	gene with protein product		608215				10393337	Standard	NM_014368		Approved	LHX6.1	uc004blx.4	Q9UPM6	OTTHUMG00000020601	ENST00000373755.2:c.959A>G	9.37:g.124975893T>C	ENSP00000362860:p.Tyr320Cys					LHX6_ENST00000541397.2_Missense_Mutation_p.Y338C|LHX6_ENST00000482062.1_Missense_Mutation_p.Y7C|LHX6_ENST00000340587.3_Missense_Mutation_p.Y349C|LHX6_ENST00000394319.4_Missense_Mutation_p.Y349C|LHX6_ENST00000464484.2_Missense_Mutation_p.Y7C|LHX6_ENST00000373755.2_Missense_Mutation_p.Y320C|LHX6_ENST00000373754.2_Missense_Mutation_p.Y320C	p.Y133C	NM_001242335.1	NP_001229264.1	Q9UPM6	LHX6_HUMAN			5	1276	-			320			LIM zinc-binding 2.|Required for interaction with LBD1 (By similarity).		A6PVQ1|A6PVQ2|A8K1B2|B7Z4D0|H0YN76|Q5T7S7|Q5T7S8|Q9NTK3|Q9UPM5	Missense_Mutation	SNP	ENST00000373755.2	37	c.398A>G	CCDS56583.1	.	.	.	.	.	.	.	.	.	.	T	28.2	4.902078	0.92035	.	.	ENSG00000106852	ENST00000373755;ENST00000373754;ENST00000394319;ENST00000340587;ENST00000541397	D;D;D;D;D	0.88124	-2.34;-2.31;-2.24;-2.19;-2.23	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	D	0.89653	0.6777	L	0.32530	0.975	0.44508	D	0.99745	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.83275	0.99;0.996;0.996	D	0.89539	0.3791	10	0.42905	T	0.14	.	14.9163	0.70801	0.0:0.0:0.0:1.0	.	320;349;349	Q9UPM6;Q9UPM6-4;Q9UPM6-3	LHX6_HUMAN;.;.	C	320;320;349;349;338	ENSP00000362860:Y320C;ENSP00000362859:Y320C;ENSP00000377854:Y349C;ENSP00000340137:Y349C;ENSP00000441464:Y338C	ENSP00000340137:Y349C	Y	-	2	0	LHX6	124015714	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.617000	0.83032	2.125000	0.65367	0.528000	0.53228	TAC		0.736	LHX6-002	KNOWN	not_organism_supported|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000053924.2	NM_014368		7	25	0	0	0	1	0	7	25					C	124975893	T	C	124975893	3	2	286	1	0	0	0	0	1	0	0	0	8775	1638	57	4	203	4	LHX6	9	124975893	Missense_Mutation	SNP	T	TCGA-J9-A52C-01A-11D-A26M-08	7991355	124975893	16237538	327	13457											
LHX2	9355	broad.mit.edu	37	chr9	126794853	126794853	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcgctcagcccctccagcaCgcccaccaccctgacagact	8	5	6	22	2	1	2	1	1	0	1	3	2	2	2	6	0	2	2	6	0	0	0			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr9:126794853C>T	ENST00000373615.4	+	5	1827	c.1088C>T	c.(1087-1089)aCg>aTg	p.T363M	RP11-85O21.5_ENST00000429482.1_RNA	NM_004789.3	NP_004780.3	P50458	LHX2_HUMAN	LIM homeobox 2	363					axon extension (GO:0048675)|axon guidance (GO:0007411)|cerebral cortex development (GO:0021987)|dorsal/ventral pattern formation (GO:0009953)|mesoderm development (GO:0007498)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|neural tube closure (GO:0001843)|olfactory bulb development (GO:0021772)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|retina development in camera-type eye (GO:0060041)|telencephalon regionalization (GO:0021978)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)	10						CCCTCCAGCACGCCCACCACC	0.657																																						ENST00000373615.4																			0				endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)	10						c.(1087-1089)aCg>aTg		LIM homeobox 2							73	72	73					9																	126794853		2203	4300	6503	SO:0001583	missense	9355					nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr9:126794853C>T	U11701	CCDS6853.1	9q33.3	2011-06-20			ENSG00000106689	ENSG00000106689		"Homeoboxes / LIM class"	6594	protein-coding gene	gene with protein product		603759				8649822, 10051612	Standard	NM_004789		Approved	LH-2, hLhx2	uc004boe.1	P50458	OTTHUMG00000020647	ENST00000373615.4:c.1088C>T	9.37:g.126794853C>T	ENSP00000362717:p.Thr363Met						p.T363M	NM_004789.3	NP_004780.3	P50458	LHX2_HUMAN			5	1827	+			363					O95860|Q52M57|Q8N1Z3	Missense_Mutation	SNP	ENST00000373615.4	37	c.1088C>T	CCDS6853.1	.	.	.	.	.	.	.	.	.	.	C	19.42	3.824293	0.71143	.	.	ENSG00000106689	ENST00000373615	D	0.85171	-1.95	5.67	5.67	0.87782	.	0.058779	0.64402	D	0.000003	D	0.87557	0.6207	L	0.29908	0.895	0.47698	D	0.999493	D;D	0.76494	0.999;0.999	D;P	0.63192	0.912;0.765	D	0.87086	0.2169	10	0.42905	T	0.14	.	18.7592	0.91843	0.0:1.0:0.0:0.0	.	363;363	B3KNJ5;P50458	.;LHX2_HUMAN	M	363	ENSP00000362717:T363M	ENSP00000362717:T363M	T	+	2	0	LHX2	125834674	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.552000	0.60747	2.655000	0.90218	0.655000	0.94253	ACG		0.657	LHX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054010.2			8	41	0	0	0	1	0	8	41					T	126794853	C	T	126794853	3	4	286	1	0	0	0	0	1	0	0	0	8771	536	19	1	1106	1	LHX2	9	126794853	Missense_Mutation	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	1818960	126794853	14418578	328	13458											
OLFML2A	169611	broad.mit.edu	37	chr9	127549357	127549357	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggacgcgtgtagccgagtgcGcagtgggcgggcacgcgtgg	5	5	21	10	7	0	0	0	0	0	0	0	2	0	1	1	4	2	3	1	4	1	1			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr9:127549357G>A	ENST00000373580.3	+	2	194	c.194G>A	c.(193-195)cGc>cAc	p.R65H		NM_182487.2	NP_872293.2	Q68BL7	OLM2A_HUMAN	olfactomedin-like 2A	65					extracellular matrix organization (GO:0030198)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)			endometrium(5)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	25						AGCCGAGTGCGCAGTGGGCGG	0.647																																						ENST00000373580.3																			0				endometrium(5)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	25						c.(193-195)cGc>cAc		olfactomedin-like 2A							51	58	56					9																	127549357		2162	4272	6434	SO:0001583	missense	169611							g.chr9:127549357G>A	AK092255	CCDS6857.2, CCDS65129.1	9q34.11	2008-02-05			ENSG00000185585	ENSG00000185585			27270	protein-coding gene	gene with protein product		615899				12477932	Standard	NM_001282715		Approved	FLJ00237	uc004bov.3	Q68BL7	OTTHUMG00000020663	ENST00000373580.3:c.194G>A	9.37:g.127549357G>A	ENSP00000362682:p.Arg65His						p.R65H	NM_182487.2	NP_872293.2	Q68BL7	OLM2A_HUMAN			2	194	+			65					Q5JTM5|Q5JTM6|Q6UXW1|Q7Z5V3	Missense_Mutation	SNP	ENST00000373580.3	37	c.194G>A	CCDS6857.2	.	.	.	.	.	.	.	.	.	.	G	18.26	3.585248	0.66105	.	.	ENSG00000185585	ENST00000331715;ENST00000425732;ENST00000373580	T;T	0.41758	0.99;0.99	5.73	5.73	0.89815	.	0.063522	0.64402	D	0.000020	T	0.61850	0.2380	M	0.71581	2.175	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.78314	0.991;0.911	T	0.63554	-0.6611	10	0.62326	D	0.03	.	11.8676	0.52503	0.08:0.0:0.92:0.0	.	65;65	Q5JTM7;Q68BL7	.;OLM2A_HUMAN	H	65	ENSP00000336425:R65H;ENSP00000362682:R65H	ENSP00000336425:R65H	R	+	2	0	OLFML2A	126589178	0.999000	0.42202	1.000000	0.80357	0.233000	0.25261	3.731000	0.55013	2.699000	0.92147	0.655000	0.94253	CGC		0.647	OLFML2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054046.2	NM_182487		9	61	0	0	0	1	0	9	61					A	127549357	G	A	127549357	3	1	286	1	0	0	0	0	1	0	0	0	10857	1087	38	1	200	1	OLFML2A	9	127549357	Missense_Mutation	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	754504	127549357	13664074	329	13459											
RALGPS1	9649	broad.mit.edu	37	chr9	129974998	129974998	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggggcacagacagaaaacaCgtaagtcccttgaaaggact	15	5	11	10	2	0	3	0	1	0	2	1	4	1	4	1	3	1	2	1	3	4	2	rs149497407	byFrequency	TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr9:129974998C>T	ENST00000259351.5	+	16	1713	c.1446C>T	c.(1444-1446)caC>caT	p.H482H	RALGPS1_ENST00000424082.2_Splice_Site_p.H440H|RP13-225O21.2_ENST00000453199.1_RNA|RALGPS1_ENST00000373434.1_Splice_Site_p.H440H	NM_014636.2	NP_055451.1	Q5JS13	RGPS1_HUMAN	Ral GEF with PH domain and SH3 binding motif 1	482	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.|Required for stimulation of nucleotide exchange by RALA.				intracellular signal transduction (GO:0035556)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Ral GTPase activity (GO:0032852)|regulation of Ral protein signal transduction (GO:0032485)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|Ral guanyl-nucleotide exchange factor activity (GO:0008321)	p.H440H(1)|p.H482H(1)		kidney(2)|large_intestine(6)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	19						ACAGAAAACACGTAAGTCCCT	0.552																																						ENST00000259351.5																			2	Substitution - coding silent(2)	p.H440H(1)|p.H482H(1)	large_intestine(2)	kidney(2)|large_intestine(6)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	19						c.e16+1		Ral GEF with PH domain and SH3 binding motif 1		C	,,	3,4403	4.2+/-10.8	0,3,2200	77	62	67		1320,1320,1446	-2	1	9	dbSNP_134	67	0,8600		0,0,4300	yes	coding-synonymous-near-splice,coding-synonymous-near-splice,coding-synonymous-near-splice	RALGPS1	NM_001190728.1,NM_001190729.1,NM_014636.2	,,	0,3,6500	TT,TC,CC		0.0,0.0681,0.0231	,,	440/530,440/538,482/558	129974998	3,13003	2203	4300	6503	SO:0001630	splice_region_variant	9649				small GTPase mediated signal transduction	cytoplasm|plasma membrane	guanyl-nucleotide exchange factor activity	g.chr9:129974998C>T	AB002349	CCDS35143.1, CCDS55344.1, CCDS55345.1, CCDS55346.1	9q33.3	2013-01-10			ENSG00000136828	ENSG00000136828		"Pleckstrin homology (PH) domain containing"	16851	protein-coding gene	gene with protein product		614444				9205841, 10747847	Standard	NM_001190728		Approved	RALGPS1A, RALGEF2, KIAA0351	uc004bqo.2	Q5JS13	OTTHUMG00000020696	ENST00000259351.5:c.1446+1C>T	9.37:g.129974998C>T						RALGPS1_ENST00000373434.1_Splice_Site_p.H440_splice|RALGPS1_ENST00000424082.2_Splice_Site_p.H440_splice	p.H482_splice	NM_014636.2	NP_055451.1	Q5JS13	RGPS1_HUMAN			16	1713	+			482			PH.|Required for stimulation of nucleotide exchange by RALA.		B4DR86|E9PBQ5|O15059|Q5JT60|Q5JT65|Q5JUG5|Q8N4S6|Q8N5H4|Q8WUV7|Q9NZ16	Splice_Site	SNP	ENST00000259351.5	37	c.1446_splice	CCDS35143.1	.	.	.	.	.	.	.	.	.	.	C	11.07	1.531338	0.27387	6.81E-4	0.0	ENSG00000136828	ENST00000438723	.	.	.	5.19	-2.01	0.07410	.	.	.	.	.	T	0.57315	0.2045	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.55270	-0.8167	4	.	.	.	.	11.3275	0.49456	0.0:0.1895:0.0:0.8105	.	.	.	.	I	78	.	.	T	+	2	0	RALGPS1	129014819	0.853000	0.29707	0.993000	0.49108	0.919000	0.55068	-0.111000	0.10807	-0.263000	0.09378	-0.137000	0.14449	ACT		0.552	RALGPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054133.1	NM_014636	Silent	4	29	0	0	0	1	0	4	29					T	129974998	C	T	129974998	5	4	286	1	0	0	0	0	0	0	1	0	13017	550	19	1	1504	1	RALGPS1	9	129974998	Splice_Site	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	2425641	129974998	11238433	330	13460											
TTC16	158248	broad.mit.edu	37	chr9	130489367	130489367	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ggtggagggcagcctgcaggCcggcagcccacaaggcattg	8	4	17	12	1	0	0	0	0	0	0	0	1	0	1	3	6	3	4	3	6	1	1			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr9:130489367C>T	ENST00000373289.3	+	11	1624	c.1544C>T	c.(1543-1545)gCc>gTc	p.A515V	PTRH1_ENST00000419060.1_5'Flank|TTC16_ENST00000489226.1_3'UTR|PTRH1_ENST00000429848.1_5'Flank	NM_144965.1	NP_659402.1	Q8NEE8	TTC16_HUMAN	tetratricopeptide repeat domain 16	515										central_nervous_system(2)|endometrium(3)|lung(7)|ovary(3)|pancreas(2)|prostate(4)|skin(1)	22						AGCCTGCAGGCCGGCAGCCCA	0.662																																						ENST00000373289.3																			0				central_nervous_system(2)|endometrium(3)|lung(7)|ovary(3)|pancreas(2)|prostate(4)|skin(1)	22						c.(1543-1545)gCc>gTc		tetratricopeptide repeat domain 16							22	23	23					9																	130489367		2201	4290	6491	SO:0001583	missense	158248						binding	g.chr9:130489367C>T	AK057342	CCDS6875.1	9q34.13	2013-01-10			ENSG00000167094	ENSG00000167094		"Tetratricopeptide (TTC) repeat domain containing"	26536	protein-coding gene	gene with protein product						12477932	Standard	NM_144965		Approved	FLJ32780	uc004brq.1	Q8NEE8	OTTHUMG00000020711	ENST00000373289.3:c.1544C>T	9.37:g.130489367C>T	ENSP00000362386:p.Ala515Val					TTC16_ENST00000489226.1_3'UTR	p.A515V	NM_144965.1	NP_659402.1	Q8NEE8	TTC16_HUMAN			11	1624	+			515					B4DYG4|B5ME24|Q5JU66|Q96M72	Missense_Mutation	SNP	ENST00000373289.3	37	c.1544C>T	CCDS6875.1	.	.	.	.	.	.	.	.	.	.	C	11.53	1.667526	0.29604	.	.	ENSG00000167094	ENST00000373289;ENST00000373288	T	0.16457	2.34	5.69	-3.91	0.04168	.	2.922720	0.00633	N	0.000486	T	0.13114	0.0318	L	0.44542	1.39	0.09310	N	1	B;B	0.15719	0.014;0.014	B;B	0.10450	0.005;0.005	T	0.17289	-1.0374	10	0.45353	T	0.12	0.1096	0.6504	0.00826	0.3719:0.2282:0.11:0.2898	.	502;515	B4DZ42;Q8NEE8	.;TTC16_HUMAN	V	515;293	ENSP00000362386:A515V	ENSP00000362385:A293V	A	+	2	0	TTC16	129529188	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.599000	0.05700	-1.263000	0.02455	-0.300000	0.09419	GCC		0.662	TTC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054224.1	NM_144965		6	27	0	0	0	1	0	6	27					T	130489367	C	T	130489367	3	4	286	1	0	0	0	0	1	0	0	0	16680	739	26	3	1586	3	TTC16	9	130489367	Missense_Mutation	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	514369	130489367	10724064	331	13461											
SLC27A4	10999	broad.mit.edu	37	chr9	131115025	131115025	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgtatcaagtacaactgcaCggtgagcgagagcgggaagg	12	7	15	7	3	1	2	1	1	0	1	1	4	1	3	0	3	5	3	0	3	5	3			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr9:131115025C>T	ENST00000300456.4	+	7	1103	c.986C>T	c.(985-987)aCg>aTg	p.T329M	SLC27A4_ENST00000372870.1_Intron	NM_005094.3	NP_005085.2	Q6P1M0	S27A4_HUMAN	solute carrier family 27 (fatty acid transporter), member 4	329					fatty acid transport (GO:0015908)|lipid metabolic process (GO:0006629)|long-chain fatty acid import (GO:0044539)|long-chain fatty acid metabolic process (GO:0001676)|long-chain fatty acid transport (GO:0015909)|medium-chain fatty acid transport (GO:0001579)|response to nutrient (GO:0007584)|skin development (GO:0043588)|transmembrane transport (GO:0055085)|transport (GO:0006810)|very long-chain fatty acid catabolic process (GO:0042760)	brush border membrane (GO:0031526)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	fatty acid transporter activity (GO:0015245)|long-chain fatty acid-CoA ligase activity (GO:0004467)|nucleotide binding (GO:0000166)|very long-chain fatty acid-CoA ligase activity (GO:0031957)			autonomic_ganglia(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(2)	13						TACAACTGCACGGTGAGCGAG	0.567																																					Pancreas(107;1554 2241 10946 12953)	ENST00000300456.3																			0				autonomic_ganglia(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(2)	13						c.e7+1		solute carrier family 27 (fatty acid transporter), member 4							105	84	92					9																	131115025		2203	4300	6503	SO:0001630	splice_region_variant	10999				long-chain fatty acid transport|transmembrane transport	integral to membrane	fatty acid transporter activity|nucleotide binding|protein binding	g.chr9:131115025C>T	AF055899	CCDS6899.1	9q34.13	2013-05-22			ENSG00000167114	ENSG00000167114		"Acyl-CoA synthetase family", "Solute carriers"	10998	protein-coding gene	gene with protein product		604194				9878842	Standard	NM_005094		Approved	FATP4, ACSVL4	uc004but.3	Q6P1M0	OTTHUMG00000020746	ENST00000300456.4:c.987+1C>T	9.37:g.131115025C>T						SLC27A4_ENST00000372870.1_Intron	p.T329_splice	NM_005094.3	NP_005085.2	Q6P1M0	S27A4_HUMAN			7	1103	+			329					A8K2F7|O95186|Q96G53	Splice_Site	SNP	ENST00000300456.4	37	c.987_splice	CCDS6899.1	.	.	.	.	.	.	.	.	.	.	C	25.2	4.609558	0.87258	.	.	ENSG00000167114	ENST00000300456	T	0.61859	0.07	5.05	5.05	0.67936	AMP-dependent synthetase/ligase (1);	0.095518	0.64402	D	0.000001	D	0.85035	0.5605	H	0.98238	4.18	0.80722	D	1	D	0.76494	0.999	D	0.73380	0.98	D	0.90663	0.4592	10	0.87932	D	0	-3.5708	17.6481	0.88154	0.0:1.0:0.0:0.0	.	329	Q6P1M0	S27A4_HUMAN	M	329	ENSP00000300456:T329M	ENSP00000300456:T329M	T	+	2	0	SLC27A4	130154846	1.000000	0.71417	0.988000	0.46212	0.811000	0.45836	7.320000	0.79064	2.635000	0.89317	0.549000	0.68633	ACG		0.567	SLC27A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054432.2		Missense_Mutation	4	41	0	0	0	1	0	4	41					T	131115025	C	T	131115025	5	4	286	1	0	0	0	0	0	0	1	0	14528	550	19	1	1008	1	SLC27A4	9	131115025	Splice_Site	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	625658	131115025	10098406	332	13462											
SPTAN1	6709	broad.mit.edu	37	chr9	131381261	131381261	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggccagcgaagattatggCgacactcttgccgccatcca	9	8	11	13	3	1	1	0	0	1	1	2	3	2	1	4	2	2	0	4	2	2	2	rs150960451		TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr9:131381261C>T	ENST00000372731.4	+	43	5807	c.5697C>T	c.(5695-5697)ggC>ggT	p.G1899G	SPTAN1_ENST00000358161.5_Silent_p.G1904G|SPTAN1_ENST00000372739.3_Silent_p.G1904G	NM_001195532.1|NM_003127.3	NP_001182461.1|NP_003118.2	Q13813	SPTN1_HUMAN	spectrin, alpha, non-erythrocytic 1	1899					actin filament capping (GO:0051693)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)	cuticular plate (GO:0032437)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intracellular membrane-bounded organelle (GO:0043231)|lateral plasma membrane (GO:0016328)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|spectrin (GO:0008091)|vesicle (GO:0031982)|Z disc (GO:0030018)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						AAGATTATGGCGACACTCTTG	0.493																																					NSCLC(120;833 1744 2558 35612 37579)	ENST00000358161.5																			0				NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						c.(5710-5712)ggC>ggT		spectrin, alpha, non-erythrocytic 1		C	,,	1,4405	2.1+/-5.4	0,1,2202	80	75	77		5712,5637,5697	0.7	1	9	dbSNP_134	77	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous	SPTAN1	NM_001130438.2,NM_001195532.1,NM_003127.3	,,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,,	1904/2478,1879/2453,1899/2473	131381261	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	6709				actin filament capping|axon guidance|cellular component disassembly involved in apoptosis	cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin	actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton	g.chr9:131381261C>T	M19725	CCDS6905.1, CCDS48036.1, CCDS75914.1	9q34.11	2013-01-10	2012-06-15		ENSG00000197694	ENSG00000197694		"EF-hand domain containing"	11273	protein-coding gene	gene with protein product	"alpha-fodrin"	182810				3336352	Standard	NM_003127		Approved		uc004bvm.4	Q13813	OTTHUMG00000020754	ENST00000372731.4:c.5697C>T	9.37:g.131381261C>T						SPTAN1_ENST00000372731.4_Silent_p.G1899G|SPTAN1_ENST00000372739.3_Silent_p.G1904G	p.G1904G			Q13813	SPTA2_HUMAN			44	5825	+			1899					Q13186|Q15324|Q16606|Q59EF1|Q5VXV5|Q5VXV6|Q7Z6M5|Q9P0V0	Silent	SNP	ENST00000372731.4	37	c.5712C>T	CCDS6905.1																																																																																				0.493	SPTAN1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054472.1	NM_003127		8	27	0	0	0	1	0	8	27					T	131381261	C	T	131381261	2	4	286	1	0	0	0	0	0	0	0	1	15116	755	27	1		1	SPTAN1	9	131381261	Silent	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	266236	131381261	9832170	333	13463											
RAPGEF1	2889	broad.mit.edu	37	chr9	134518638	134518638	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccactcacctgtgctgaattCgaggatcgttctgcaccagg	8	10	10	13	2	2	1	1	1	1	0	4	3	2	2	3	2	2	3	3	2	1	2			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr9:134518638C>T	ENST00000372189.3	-	4	554	c.431G>A	c.(430-432)cGa>cAa	p.R144Q	RAPGEF1_ENST00000481260.1_5'UTR|RAPGEF1_ENST00000372190.3_Missense_Mutation_p.R162Q|RAPGEF1_ENST00000372195.1_Missense_Mutation_p.R161Q	NM_005312.2	NP_005303.2	Q13905	RPGF1_HUMAN	Rap guanine nucleotide exchange factor (GEF) 1	144					activation of MAPKK activity (GO:0000186)|blood vessel development (GO:0001568)|cellular response to cAMP (GO:0071320)|cellular response to nerve growth factor stimulus (GO:1990090)|establishment of endothelial barrier (GO:0061028)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of neural precursor cell proliferation (GO:2000178)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of Ras protein signal transduction (GO:0046580)|nerve growth factor signaling pathway (GO:0038180)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of neuron projection development (GO:0010976)|positive regulation of Rap GTPase activity (GO:0032854)|Rap protein signal transduction (GO:0032486)|regulation of cell junction assembly (GO:1901888)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytosol (GO:0005829)|early endosome (GO:0005769)|endosome (GO:0005768)	Rap guanyl-nucleotide exchange factor activity (GO:0017034)			NS(2)|breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|lung(9)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1)	39		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;2.19e-05)|Epithelial(140;0.000364)		GTGCTGAATTCGAGGATCGTT	0.507																																						ENST00000372195.1																			0				NS(2)|breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|lung(9)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1)	39						c.(481-483)cGa>cAa		Rap guanine nucleotide exchange factor (GEF) 1							47	46	46					9																	134518638		2000	4181	6181	SO:0001583	missense	2889				activation of MAPKK activity|nerve growth factor receptor signaling pathway|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|endosome	guanyl-nucleotide exchange factor activity|SH3 domain binding	g.chr9:134518638C>T	BC041710	CCDS48047.1	9q34.3	2008-02-05	2004-03-01	2004-03-02	ENSG00000107263	ENSG00000107263			4568	protein-coding gene	gene with protein product		600303	"guanine nucleotide-releasing factor 2 (specific for crk proto-oncogene)"	GRF2		7959692, 7512734	Standard	NM_005312		Approved	C3G	uc022bos.1	Q13905	OTTHUMG00000020829	ENST00000372189.3:c.431G>A	9.37:g.134518638C>T	ENSP00000361263:p.Arg144Gln					RAPGEF1_ENST00000372189.3_Missense_Mutation_p.R144Q|RAPGEF1_ENST00000372190.3_Missense_Mutation_p.R162Q|RAPGEF1_ENST00000481260.1_5'UTR	p.R161Q			Q13905	RPGF1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;2.19e-05)|Epithelial(140;0.000364)	4	725	-		Myeloproliferative disorder(178;0.204)	144					Q5JUE4|Q8IV73	Missense_Mutation	SNP	ENST00000372189.3	37	c.482G>A	CCDS48047.1	.	.	.	.	.	.	.	.	.	.	C	17.61	3.433160	0.62844	.	.	ENSG00000107263	ENST00000266110;ENST00000372195;ENST00000429421;ENST00000372189;ENST00000372190;ENST00000411834;ENST00000337036;ENST00000357686;ENST00000438647;ENST00000427994	T;T;T;T;T	0.37752	1.18;1.18;1.18;1.18;1.18	5.72	5.72	0.89469	.	0.149026	0.30949	N	0.008544	T	0.57829	0.2080	M	0.62723	1.935	0.41195	D	0.986339	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.74348	0.961;0.961;0.983	T	0.46176	-0.9210	10	0.25751	T	0.34	.	19.2284	0.93827	0.0:1.0:0.0:0.0	.	161;144;162	Q68DL3;Q13905;Q13905-3	.;RPGF1_HUMAN;.	Q	144;161;38;144;162;124;70;161;123;162	ENSP00000361269:R161Q;ENSP00000361263:R144Q;ENSP00000361264:R162Q;ENSP00000410640:R123Q;ENSP00000402174:R162Q	ENSP00000266110:R144Q	R	-	2	0	RAPGEF1	133508459	0.884000	0.30299	0.333000	0.25482	0.992000	0.81027	3.709000	0.54853	2.857000	0.98124	0.650000	0.86243	CGA		0.507	RAPGEF1-001	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054759.2	NM_005312		3	17	0	0	0	1	0	3	17					T	134518638	C	T	134518638	3	4	286	1	0	0	0	0	1	0	0	0	13043	884	31	2	2886	2	RAPGEF1	9	134518638	Missense_Mutation	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	3137377	134518638	6694793	334	13464											
DBH	1621	broad.mit.edu	37	chr9	136509362	136509362	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	attttactacccagaggaagCcggccttgccttcgggggtc	7	10	12	12	2	0	1	0	0	0	1	2	2	0	2	4	4	4	0	4	4	3	5			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr9:136509362C>T	ENST00000393056.2	+	5	956	c.944C>T	c.(943-945)gCc>gTc	p.A315V		NM_000787.3	NP_000778.3	P09172	DOPO_HUMAN	dopamine beta-hydroxylase (dopamine beta-monooxygenase)	315					behavioral response to ethanol (GO:0048149)|blood vessel remodeling (GO:0001974)|catecholamine biosynthetic process (GO:0042423)|cellular nitrogen compound metabolic process (GO:0034641)|cytokine production (GO:0001816)|dopamine catabolic process (GO:0042420)|fear response (GO:0042596)|glucose homeostasis (GO:0042593)|homoiothermy (GO:0042309)|leukocyte mediated immunity (GO:0002443)|leukocyte migration (GO:0050900)|locomotory behavior (GO:0007626)|maternal behavior (GO:0042711)|memory (GO:0007613)|norepinephrine biosynthetic process (GO:0042421)|positive regulation of vasoconstriction (GO:0045907)|regulation of cell proliferation (GO:0042127)|regulation of extrinsic apoptotic signaling pathway (GO:2001236)|response to amphetamine (GO:0001975)|response to pain (GO:0048265)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|secretory granule lumen (GO:0034774)	catalytic activity (GO:0003824)|copper ion binding (GO:0005507)|dopamine beta-monooxygenase activity (GO:0004500)|L-ascorbic acid binding (GO:0031418)			central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(9)|liver(1)|lung(6)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	36				OV - Ovarian serous cystadenocarcinoma(145;2.33e-07)|Epithelial(140;1.5e-06)|all cancers(34;1.66e-05)	Disulfiram(DB00822)|Dopamine(DB00988)|Propylthiouracil(DB00550)|Vitamin C(DB00126)	CCAGAGGAAGCCGGCCTTGCC	0.602																																						ENST00000393056.2																			0				central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(9)|liver(1)|lung(6)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	36						c.(943-945)gCc>gTc		dopamine beta-hydroxylase (dopamine beta-monooxygenase)	Dopamine(DB00988)|Vitamin C(DB00126)						99	94	96					9																	136509362		2203	4300	6503	SO:0001583	missense	1621				hormone biosynthetic process	chromaffin granule lumen|chromaffin granule membrane|extracellular region|integral to membrane|membrane fraction|soluble fraction|transport vesicle membrane	dopamine beta-monooxygenase activity|L-ascorbic acid binding	g.chr9:136509362C>T	X13256	CCDS6977.2	9q34	2013-06-03			ENSG00000123454	ENSG00000123454	1.14.17.1		2689	protein-coding gene	gene with protein product		609312					Standard	NM_000787		Approved	DBM	uc004cel.3	P09172	OTTHUMG00000020878	ENST00000393056.2:c.944C>T	9.37:g.136509362C>T	ENSP00000376776:p.Ala315Val						p.A315V	NM_000787.3	NP_000778.3	P09172	DOPO_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;2.33e-07)|Epithelial(140;1.5e-06)|all cancers(34;1.66e-05)	5	956	+			315					Q5T381|Q96AG2	Missense_Mutation	SNP	ENST00000393056.2	37	c.944C>T	CCDS6977.2	.	.	.	.	.	.	.	.	.	.	C	15.74	2.923262	0.52653	.	.	ENSG00000123454	ENST00000393056	T	0.28255	1.62	5.13	4.23	0.50019	Copper type II, ascorbate-dependent monooxygenase, N-terminal (2);PHM/PNGase F domain (1);	0.107337	0.64402	D	0.000005	T	0.28732	0.0712	L	0.28504	0.86	0.58432	D	0.999993	P	0.38048	0.616	P	0.47827	0.558	T	0.04961	-1.0915	10	0.24483	T	0.36	-10.3077	8.3348	0.32208	0.0:0.7607:0.1562:0.0831	.	315	P09172	DOPO_HUMAN	V	315	ENSP00000376776:A315V	ENSP00000376776:A315V	A	+	2	0	DBH	135499183	0.955000	0.32602	0.799000	0.32177	0.125000	0.20455	2.130000	0.42064	1.140000	0.42260	0.561000	0.74099	GCC		0.602	DBH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054929.2	NM_000787		10	83	0	0	0	1	0	10	83					T	136509362	C	T	136509362	3	4	286	1	0	0	0	0	1	0	0	0	4250	739	26	3	962	3	DBH	9	136509362	Missense_Mutation	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	1990724	136509362	4704069	335	13465											
SARDH	1757	broad.mit.edu	37	chr9	136568130	136568130	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcgcggctcccgtaagcccCgtagtagtcgtactcgagga	7	7	13	14	7	0	0	0	0	0	0	3	2	1	1	3	2	2	5	3	2	4	4	rs148314623		TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr9:136568130C>T	ENST00000371872.4	-	13	1833	c.1576G>A	c.(1576-1578)Ggg>Agg	p.G526R	SARDH_ENST00000439388.1_Missense_Mutation_p.G526R|SARDH_ENST00000371868.1_5'UTR|SARDH_ENST00000422262.2_Missense_Mutation_p.G358R	NM_007101.3	NP_009032.2	Q9UL12	SARDH_HUMAN	sarcosine dehydrogenase	526					glycine catabolic process (GO:0006546)	mitochondrion (GO:0005739)	aminomethyltransferase activity (GO:0004047)|sarcosine dehydrogenase activity (GO:0008480)	p.G526W(1)		central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(13)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	44				OV - Ovarian serous cystadenocarcinoma(145;3.21e-07)|Epithelial(140;2.37e-06)|all cancers(34;2.75e-05)		CCGTAAGCCCCGTAGTAGTCG	0.667																																						ENST00000371872.4																			1	Substitution - Missense(1)	p.G526W(1)	central_nervous_system(1)	central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(13)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	44						c.(1576-1578)Ggg>Agg		sarcosine dehydrogenase		C	ARG/GLY,ARG/GLY	1,4405	2.1+/-5.4	0,1,2202	67	59	62		1576,1576	4.7	1	9	dbSNP_134	62	0,8600		0,0,4300	no	missense,missense	SARDH	NM_001134707.1,NM_007101.3	125,125	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign,benign	526/919,526/919	136568130	1,13005	2203	4300	6503	SO:0001583	missense	1757				glycine catabolic process	mitochondrial matrix	aminomethyltransferase activity|sarcosine dehydrogenase activity	g.chr9:136568130C>T		CCDS6978.1	9q33-q34	2008-02-05			ENSG00000123453	ENSG00000123453	1.5.99.2		10536	protein-coding gene	gene with protein product		604455		DMGDHL1		10444331	Standard	NM_007101		Approved	SDH	uc004cep.4	Q9UL12	OTTHUMG00000020879	ENST00000371872.4:c.1576G>A	9.37:g.136568130C>T	ENSP00000360938:p.Gly526Arg					SARDH_ENST00000422262.2_Missense_Mutation_p.G358R|SARDH_ENST00000371868.1_5'UTR|SARDH_ENST00000439388.1_Missense_Mutation_p.G526R	p.G526R	NM_007101.3	NP_009032.2	Q9UL12	SARDH_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;3.21e-07)|Epithelial(140;2.37e-06)|all cancers(34;2.75e-05)	13	1833	-			526					B2RMR5|B4DPI2|B7ZLT6|Q5SYV0|Q9Y280|Q9Y2Y3	Missense_Mutation	SNP	ENST00000371872.4	37	c.1576G>A	CCDS6978.1	.	.	.	.	.	.	.	.	.	.	C	15.76	2.930000	0.52759	2.27E-4	0.0	ENSG00000123453	ENST00000371872;ENST00000439388;ENST00000422262;ENST00000427237	T;T;T	0.76709	-0.63;-0.63;-1.04	4.68	4.68	0.58851	.	0.000000	0.85682	D	0.000000	T	0.78336	0.4267	M	0.70275	2.135	0.80722	D	1	B	0.31413	0.322	B	0.33521	0.165	T	0.80906	-0.1173	10	0.87932	D	0	-24.3789	15.6955	0.77494	0.0:1.0:0.0:0.0	.	526	Q9UL12	SARDH_HUMAN	R	526;526;358;526	ENSP00000360938:G526R;ENSP00000403084:G526R;ENSP00000415537:G358R	ENSP00000360938:G526R	G	-	1	0	SARDH	135557951	0.997000	0.39634	0.964000	0.40570	0.591000	0.36615	4.018000	0.57174	2.286000	0.76751	0.561000	0.74099	GGG		0.667	SARDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054931.1			8	31	0	0	0	1	0	8	31					T	136568130	C	T	136568130	3	4	286	1	0	0	0	0	1	0	0	0	13841	652	23	2	1216	2	SARDH	9	136568130	Missense_Mutation	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	58768	136568130	4645301	336	13466											
RXRA	6256	broad.mit.edu	37	chr9	137321060	137321060	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caccggaacagcgcccacagCgcaggggtgggcgccatctt	8	4	14	15	4	1	0	0	0	1	0	1	1	1	1	3	4	3	1	3	4	1	1	rs373205831		TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr9:137321060C>T	ENST00000481739.1	+	7	1069	c.1017C>T	c.(1015-1017)agC>agT	p.S339S	RXRA_ENST00000356384.4_3'UTR|RXRA_ENST00000540193.1_Silent_p.S242S	NM_002957.4	NP_002948.1	P19793	RXRA_HUMAN	retinoid X receptor, alpha	339	Ligand-binding.				camera-type eye development (GO:0043010)|cardiac muscle cell proliferation (GO:0060038)|cellular lipid metabolic process (GO:0044255)|cholesterol metabolic process (GO:0008203)|embryo implantation (GO:0007566)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|maternal placenta development (GO:0001893)|modulation by virus of host morphology or physiology (GO:0019048)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|peroxisome proliferator activated receptor signaling pathway (GO:0035357)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein homotetramerization (GO:0051289)|regulation of branching involved in prostate gland morphogenesis (GO:0060687)|response to retinoic acid (GO:0032526)|retinoic acid receptor signaling pathway (GO:0048384)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|ventricular cardiac muscle cell differentiation (GO:0055012)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|vitamin metabolic process (GO:0006766)	nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	9-cis retinoic acid receptor activity (GO:0004886)|chromatin DNA binding (GO:0031490)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein heterodimerization activity (GO:0046982)|retinoic acid receptor activity (GO:0003708)|retinoic acid-responsive element binding (GO:0044323)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription coactivator activity (GO:0003713)|vitamin D receptor binding (GO:0042809)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19				OV - Ovarian serous cystadenocarcinoma(145;4.66e-08)|Epithelial(140;6.72e-08)|all cancers(34;2.22e-07)	Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Bexarotene(DB00307)|Etodolac(DB00749)	GCGCCCACAGCGCAGGGGTGG	0.687																																						ENST00000540193.1																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(724-726)agC>agT		retinoid X receptor, alpha	Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)	C		0,4406		0,0,2203	47	50	49		1017	2.1	1	9		49	1,8597	1.2+/-3.3	0,1,4298	no	coding-synonymous	RXRA	NM_002957.4		0,1,6501	TT,TC,CC		0.0116,0.0,0.0077		339/463	137321060	1,13003	2203	4299	6502	SO:0001819	synonymous_variant	6256				cellular lipid metabolic process|cholesterol metabolic process|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to retinoic acid|vitamin metabolic process	nuclear chromatin|nucleoplasm	enzyme binding|ligand-regulated transcription factor activity|protein heterodimerization activity|retinoic acid-responsive element binding|retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|transcription coactivator activity|vitamin D receptor binding|zinc ion binding	g.chr9:137321060C>T	X52773	CCDS35172.1	9q34	2013-01-16			ENSG00000186350	ENSG00000186350		"Nuclear hormone receptors"	10477	protein-coding gene	gene with protein product	"nuclear receptor subfamily 2 group B member 1"	180245				2159111	Standard	XM_005263409		Approved	NR2B1	uc004cfa.1	P19793	OTTHUMG00000020887	ENST00000481739.1:c.1017C>T	9.37:g.137321060C>T						RXRA_ENST00000356384.4_3'UTR|RXRA_ENST00000481739.1_Silent_p.S339S	p.S242S			P19793	RXRA_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;4.66e-08)|Epithelial(140;6.72e-08)|all cancers(34;2.22e-07)	6	1649	+			339			Ligand-binding.		B3KY83|Q2NL52|Q2V504	Silent	SNP	ENST00000481739.1	37	c.726C>T	CCDS35172.1																																																																																				0.687	RXRA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054949.1	NM_002957		21	77	0	0	0	1	0	21	77					T	137321060	C	T	137321060	2	4	286	1	0	0	0	0	0	0	0	1	13763	767	27	1		1	RXRA	9	137321060	Silent	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	752930	137321060	3892371	337	13467											
CAMSAP1	157922	broad.mit.edu	37	chr9	138707776	138707776	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccagggaagatgccgccgaCgcggtctcccagtctcggtc	6	6	14	15	5	2	1	0	0	2	1	5	3	2	2	4	3	1	0	4	3	1	0			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr9:138707776C>T	ENST00000389532.4	-	15	4411	c.4347G>A	c.(4345-4347)gcG>gcA	p.A1449A	CAMSAP1_ENST00000312405.6_Silent_p.A1171A|CAMSAP1_ENST00000483991.1_5'UTR|CAMSAP1_ENST00000409386.3_Silent_p.A1460A	NM_015447.3	NP_056262.3	Q5T5Y3	CAMP1_HUMAN	calmodulin regulated spectrin-associated protein 1	1449					cytoskeleton organization (GO:0007010)|neuron projection development (GO:0031175)|regulation of cell morphogenesis (GO:0022604)	cytoplasm (GO:0005737)|microtubule (GO:0005874)	calmodulin binding (GO:0005516)|microtubule binding (GO:0008017)|spectrin binding (GO:0030507)			breast(3)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(11)|lung(16)|ovary(3)|pancreas(1)|skin(1)	47				OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05)		ATGCCGCCGACGCGGTCTCCC	0.612																																						ENST00000389532.4																			0				breast(3)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(11)|lung(16)|ovary(3)|pancreas(1)|skin(1)	47						c.(4345-4347)gcG>gcA		calmodulin regulated spectrin-associated protein 1							97	82	87					9																	138707776		2203	4300	6503	SO:0001819	synonymous_variant	157922					cytoplasm|microtubule		g.chr9:138707776C>T	AJ519841	CCDS35176.2	9q34.3	2008-02-05			ENSG00000130559	ENSG00000130559			19946	protein-coding gene	gene with protein product		613774				12477932	Standard	NM_015447		Approved	FLJ31228, DKFZp434F195	uc004cgr.4	Q5T5Y3	OTTHUMG00000020918	ENST00000389532.4:c.4347G>A	9.37:g.138707776C>T						CAMSAP1_ENST00000312405.6_Silent_p.A1171A|CAMSAP1_ENST00000409386.3_Silent_p.A1460A|CAMSAP1_ENST00000483991.1_5'UTR	p.A1449A	NM_015447.3	NP_056262.3	Q5T5Y3	CAMP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05)	15	4411	-			1449					A1L4L2|B2REB2|B2REB3|Q70W33|Q8NCY0|Q96E80|Q96FM3|Q9UFJ5	Silent	SNP	ENST00000389532.4	37	c.4347G>A	CCDS35176.2																																																																																				0.612	CAMSAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055024.2	XM_351857		7	79	0	0	0	1	0	7	79					T	138707776	C	T	138707776	2	4	286	1	0	0	0	0	0	0	0	1	2611	523	19	1		1	CAMSAP1	9	138707776	Silent	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	1386716	138707776	2505655	338	13468											
CAMSAP1	157922	broad.mit.edu	37	chr9	138714575	138714575	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtaaaagtcctattcaagtcGcgactgccagtcattttcct	10	13	7	11	2	2	0	2	0	0	0	5	1	4	0	3	0	1	1	3	0	4	5			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr9:138714575G>A	ENST00000389532.4	-	11	1996	c.1932C>T	c.(1930-1932)cgC>cgT	p.R644R	CAMSAP1_ENST00000312405.6_Silent_p.R366R|CAMSAP1_ENST00000483991.1_5'UTR|CAMSAP1_ENST00000409386.3_Silent_p.R655R	NM_015447.3	NP_056262.3	Q5T5Y3	CAMP1_HUMAN	calmodulin regulated spectrin-associated protein 1	644					cytoskeleton organization (GO:0007010)|neuron projection development (GO:0031175)|regulation of cell morphogenesis (GO:0022604)	cytoplasm (GO:0005737)|microtubule (GO:0005874)	calmodulin binding (GO:0005516)|microtubule binding (GO:0008017)|spectrin binding (GO:0030507)			breast(3)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(11)|lung(16)|ovary(3)|pancreas(1)|skin(1)	47				OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05)		TATTCAAGTCGCGACTGCCAG	0.587																																						ENST00000389532.4																			0				breast(3)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(11)|lung(16)|ovary(3)|pancreas(1)|skin(1)	47						c.(1930-1932)cgC>cgT		calmodulin regulated spectrin-associated protein 1							70	76	74					9																	138714575		2203	4300	6503	SO:0001819	synonymous_variant	157922					cytoplasm|microtubule		g.chr9:138714575G>A	AJ519841	CCDS35176.2	9q34.3	2008-02-05			ENSG00000130559	ENSG00000130559			19946	protein-coding gene	gene with protein product		613774				12477932	Standard	NM_015447		Approved	FLJ31228, DKFZp434F195	uc004cgr.4	Q5T5Y3	OTTHUMG00000020918	ENST00000389532.4:c.1932C>T	9.37:g.138714575G>A						CAMSAP1_ENST00000312405.6_Silent_p.R366R|CAMSAP1_ENST00000409386.3_Silent_p.R655R|CAMSAP1_ENST00000483991.1_5'UTR	p.R644R	NM_015447.3	NP_056262.3	Q5T5Y3	CAMP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05)	11	1996	-			644					A1L4L2|B2REB2|B2REB3|Q70W33|Q8NCY0|Q96E80|Q96FM3|Q9UFJ5	Silent	SNP	ENST00000389532.4	37	c.1932C>T	CCDS35176.2																																																																																				0.587	CAMSAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055024.2	XM_351857		11	39	0	0	0	1	0	11	39					A	138714575	G	A	138714575	2	1	286	1	0	0	0	0	0	0	0	1	2611	1074	38	1		1	CAMSAP1	9	138714575	Silent	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	6799	138714575	2498856	339	13469											
SNAPC4	6621	broad.mit.edu	37	chr9	139289316	139289316	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gccttctctcgtgtgtcctcGttggcaggtggcccctgtca	2	13	12	14	2	2	0	1	0	1	0	6	0	3	0	4	3	0	2	4	3	0	2	rs557393505		TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr9:139289316G>A	ENST00000298532.2	-	5	854	c.486C>T	c.(484-486)aaC>aaT	p.N162N		NM_003086.2	NP_003077.2			small nuclear RNA activating complex, polypeptide 4, 190kDa											biliary_tract(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	33		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.31e-06)|Epithelial(140;7.13e-06)		GTGTGTCCTCGTTGGCAGGTG	0.632													G|||	1	0.000199681	0	0	5008	,	,		19480	0		0.001	False		,,,				2504	0					ENST00000298532.2																			0				biliary_tract(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	33						c.(484-486)aaC>aaT		small nuclear RNA activating complex, polypeptide 4, 190kDa							110	93	99					9																	139289316		2203	4300	6503	SO:0001819	synonymous_variant	6621				snRNA transcription from RNA polymerase II promoter|snRNA transcription from RNA polymerase III promoter	snRNA-activating protein complex	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr9:139289316G>A	AF032387	CCDS6998.1	9q34.3	2008-07-21	2002-08-29		ENSG00000165684	ENSG00000165684			11137	protein-coding gene	gene with protein product		602777	"small nuclear RNA activating complex, polypeptide 4, 190kD"			9418884	Standard	XM_005266096		Approved	SNAP190, PTFalpha, FLJ13451	uc004chh.3	Q5SXM2	OTTHUMG00000020929	ENST00000298532.2:c.486C>T	9.37:g.139289316G>A							p.N162N	NM_003086.2	NP_003077.2	Q5SXM2	SNPC4_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.31e-06)|Epithelial(140;7.13e-06)	5	854	-		Myeloproliferative disorder(178;0.0511)	162						Silent	SNP	ENST00000298532.2	37	c.486C>T	CCDS6998.1																																																																																				0.632	SNAPC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055071.1	NM_003086		4	36	0	0	0	1	0	4	36					A	139289316	G	A	139289316	2	1	286	1	0	0	0	0	0	0	0	1	14837	1136	40	1		1	SNAPC4	9	139289316	Silent	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	574741	139289316	1924115	340	13470											
SEC16A	9919	broad.mit.edu	37	chr9	139369757	139369757	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggccgccgagcttgggttccGtgactgctgcccggacatcg	4	8	15	14	5	0	1	0	1	0	0	2	3	1	2	4	3	3	3	4	3	0	2			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr9:139369757G>A	ENST00000371706.3	-	1	1810	c.1777C>T	c.(1777-1779)Cgg>Tgg	p.R593W	SEC16A_ENST00000313050.7_Missense_Mutation_p.R771W|SEC16A_ENST00000431893.2_Missense_Mutation_p.R593W|SEC16A_ENST00000290037.6_Missense_Mutation_p.R593W			O15027	SC16A_HUMAN	SEC16 homolog A (S. cerevisiae)	593					COPII vesicle coating (GO:0048208)|endoplasmic reticulum organization (GO:0007029)|protein transport (GO:0015031)|substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)				breast(1)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(15)|lung(14)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Myeloproliferative disorder(178;0.0511)		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)		CTTGGGTTCCGTGACTGCTGC	0.612																																						ENST00000313050.7																			0				breast(1)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(15)|lung(14)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						c.(2311-2313)Cgg>Tgg		SEC16 homolog A (S. cerevisiae)							24	27	26					9																	139369757		1973	4146	6119	SO:0001583	missense	9919				protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane		g.chr9:139369757G>A	AK074565	CCDS55351.1, CCDS75936.1	9q34.3	2007-06-20	2007-06-20	2007-06-20	ENSG00000148396	ENSG00000148396			29006	protein-coding gene	gene with protein product		612854	"KIAA0310"	KIAA0310		9205841	Standard	NM_014866		Approved	p250	uc004chx.3	O15027	OTTHUMG00000020932	ENST00000371706.3:c.1777C>T	9.37:g.139369757G>A	ENSP00000360771:p.Arg593Trp					SEC16A_ENST00000431893.2_Missense_Mutation_p.R593W|SEC16A_ENST00000371706.3_Missense_Mutation_p.R593W|SEC16A_ENST00000290037.6_Missense_Mutation_p.R593W	p.R771W	NM_014866.1	NP_055681.1	O15027	SC16A_HUMAN		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)	1	2384	-		Myeloproliferative disorder(178;0.0511)	593					A1YCA4|Q4G0D7|Q5SXP0|Q5SXP1|Q8N347|Q96HP1	Missense_Mutation	SNP	ENST00000371706.3	37	c.2311C>T		.	.	.	.	.	.	.	.	.	.	g	4.654	0.121493	0.08881	.	.	ENSG00000148396	ENST00000313050;ENST00000371706;ENST00000290037;ENST00000431893;ENST00000404925	T;T;T;T	0.23147	1.92;1.92;1.92;1.92	4.38	2.45	0.29901	.	1.431730	0.04118	N	0.315741	T	0.14485	0.0350	N	0.12182	0.205	0.09310	N	1	B;B;B;B	0.13594	0.004;0.008;0.008;0.003	B;B;B;B	0.04013	0.0;0.001;0.001;0.0	T	0.27400	-1.0075	10	0.59425	D	0.04	-3.5128	1.3695	0.02207	0.2637:0.1539:0.4251:0.1573	.	771;593;593;398	F1T0I1;O15027-5;O15027-4;A4QN19	.;.;.;.	W	771;593;593;593;398	ENSP00000325827:R771W;ENSP00000360771:R593W;ENSP00000290037:R593W;ENSP00000387583:R593W	ENSP00000290037:R593W	R	-	1	2	SEC16A	138489578	0.000000	0.05858	0.001000	0.08648	0.357000	0.29423	0.099000	0.15210	0.939000	0.37446	0.550000	0.68814	CGG		0.612	SEC16A-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000055077.1	XM_088459		3	28	0	0	0	1	0	3	28					A	139369757	G	A	139369757	3	1	286	1	0	0	0	0	1	0	0	0	13986	1144	40	1	4882	1	SEC16A	9	139369757	Missense_Mutation	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	80441	139369757	1843674	341	13471											
ADARB2	105	broad.mit.edu	37	chr10	1405754	1405754	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aaggacctgagtgccagctcCgccgcgcgcatcttggcctt	6	8	12	15	4	1	1	0	1	1	0	2	2	2	2	5	2	2	2	5	2	1	2			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr10:1405754C>T	ENST00000381312.1	-	3	871	c.546G>A	c.(544-546)gcG>gcA	p.A182A	RP11-398B16.2_ENST00000432987.1_RNA	NM_018702.3	NP_061172.1	Q9NS39	RED2_HUMAN	adenosine deaminase, RNA-specific, B2 (non-functional)	182	DRBM 1. {ECO:0000255|PROSITE- ProRule:PRU00266}.				mRNA processing (GO:0006397)	nucleus (GO:0005634)	adenosine deaminase activity (GO:0004000)|double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|single-stranded RNA binding (GO:0003727)			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1)	41		all_epithelial(10;0.059)|Colorectal(49;0.0815)		all cancers(11;0.0224)|GBM - Glioblastoma multiforme(2;0.0414)|Epithelial(11;0.165)		GTGCCAGCTCCGCCGCGCGCA	0.711																																						ENST00000381312.1																			0				breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1)	41						c.(544-546)gcG>gcA		adenosine deaminase, RNA-specific, B2 (non-functional)							37	33	34					10																	1405754		2203	4300	6503	SO:0001819	synonymous_variant	105				mRNA processing	mitochondrion|nucleus	adenosine deaminase activity|double-stranded RNA binding|metal ion binding|single-stranded RNA binding	g.chr10:1405754C>T	AF034837	CCDS7058.1	10p15.3	2013-05-20	2013-05-20		ENSG00000185736	ENSG00000185736	3.5.-.-		227	protein-coding gene	gene with protein product	"RED2 homolog (rat)"	602065	"adenosine deaminase, RNA-specific, B2 (RED2 homolog rat)", "adenosine deaminase, RNA-specific, B2"			9272162, 10836796	Standard	NM_018702		Approved	RED2, hRED2, ADAR3	uc009xhq.3	Q9NS39	OTTHUMG00000017543	ENST00000381312.1:c.546G>A	10.37:g.1405754C>T							p.A182A	NM_018702.3	NP_061172.1	Q9NS39	RED2_HUMAN		all cancers(11;0.0224)|GBM - Glioblastoma multiforme(2;0.0414)|Epithelial(11;0.165)	3	871	-		all_epithelial(10;0.059)|Colorectal(49;0.0815)	182			DRBM 1.		B2RPJ5|Q5VUT6|Q5VW42	Silent	SNP	ENST00000381312.1	37	c.546G>A	CCDS7058.1																																																																																				0.711	ADARB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046426.1	NM_018702		5	28	0	0	0	1	0	5	28					T	1405754	C	T	1405754	2	4	286	1	0	0	0	0	0	0	0	1	283	639	23	2		2	ADARB2	10	1405754	Silent	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08		1405754	134128993	342	13472											
PITRM1	10531	broad.mit.edu	37	chr10	3180260	3180260	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atgggtccttggcaattttcGggttctcgggtccgaggatg	5	13	15	8	3	1	0	0	0	1	0	5	2	3	1	2	5	0	2	2	5	1	4			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr10:3180260G>A	ENST00000224949.4	-	27	3111	c.3077C>T	c.(3076-3078)cCg>cTg	p.P1026L	PITRM1_ENST00000380989.2_Missense_Mutation_p.P1027L|PITRM1_ENST00000451104.2_Missense_Mutation_p.P928L|PITRM1_ENST00000464395.1_5'UTR|PITRM1_ENST00000380994.1_Missense_Mutation_p.P584L			Q5JRX3	PREP_HUMAN	pitrilysin metallopeptidase 1	1026					positive regulation of catalytic activity (GO:0043085)|proteolysis (GO:0006508)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	enzyme activator activity (GO:0008047)|metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			breast(2)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|urinary_tract(3)	33						GGCAATTTTCGGGTTCTCGGG	0.582																																						ENST00000380989.2																			0				breast(2)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|urinary_tract(3)	33						c.(3079-3081)cCg>cTg		pitrilysin metallopeptidase 1							58	61	60					10																	3180260		2063	4207	6270	SO:0001583	missense	10531				proteolysis		metalloendopeptidase activity|zinc ion binding	g.chr10:3180260G>A	AB029027	CCDS55699.1, CCDS55700.1, CCDS59208.1	10p15.2	2008-07-30	2005-08-17		ENSG00000107959	ENSG00000107959			17663	protein-coding gene	gene with protein product	"PreP peptidasome"		"pitrilysin metalloproteinase 1"			1036083, 10470851, 16849325	Standard	NM_014889		Approved	MP1, KIAA1104, hMP1, PreP	uc009xhv.2	Q5JRX3	OTTHUMG00000017557	ENST00000224949.4:c.3077C>T	10.37:g.3180260G>A	ENSP00000224949:p.Pro1026Leu					PITRM1_ENST00000224949.4_Missense_Mutation_p.P1026L|PITRM1_ENST00000464395.1_5'UTR|PITRM1_ENST00000451104.2_Missense_Mutation_p.P928L|PITRM1_ENST00000380994.1_Missense_Mutation_p.P584L	p.P1027L	NM_001242307.1|NM_014889.3	NP_001229236.1|NP_055704.2	E7ES23	E7ES23_HUMAN			27	3118	-			928					B3KMJ6|B4E0J8|C9JSL2|E7ES23|O95204|Q2M2G6|Q4VBR1|Q5JRW7|Q7L5Z7|Q9BSI6|Q9BVJ5|Q9UPP8	Missense_Mutation	SNP	ENST00000224949.4	37	c.3080C>T	CCDS59208.1	.	.	.	.	.	.	.	.	.	.	g	4.946	0.175685	0.09391	.	.	ENSG00000107959	ENST00000224949;ENST00000380980;ENST00000380989;ENST00000380994;ENST00000451104	T;T;T;T	0.41758	0.99;0.99;0.99;0.99	5.83	1.28	0.21552	.	0.743369	0.13981	N	0.349450	T	0.21427	0.0516	N	0.12182	0.205	0.09310	N	1	B;B;B	0.13594	0.008;0.003;0.001	B;B;B	0.08055	0.001;0.003;0.0	T	0.17137	-1.0379	10	0.30078	T	0.28	-2.4062	7.0374	0.25000	0.1462:0.0:0.609:0.2448	.	928;1026;961	E7ES23;Q5JRX3;E9PDX7	.;PREP_HUMAN;.	L	1026;1019;1027;584;928	ENSP00000224949:P1026L;ENSP00000370377:P1027L;ENSP00000370382:P584L;ENSP00000401201:P928L	ENSP00000224949:P1026L	P	-	2	0	PITRM1	3170260	0.001000	0.12720	0.000000	0.03702	0.001000	0.01503	1.004000	0.29822	0.357000	0.24183	0.561000	0.74099	CCG		0.582	PITRM1-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000046469.2			4	18	0	0	0	1	0	4	18					A	3180260	G	A	3180260	3	1	286	1	0	0	0	0	1	0	0	0	11953	1116	39	2	40	2	PITRM1	10	3180260	Missense_Mutation	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	1774506	3180260	132354487	343	13473											
CUBN	8029	broad.mit.edu	37	chr10	16989253	16989253	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cataaaagacagctggagccGgttgccaggggaactgacga	13	5	14	9	2	0	2	0	1	0	1	0	5	0	4	2	4	4	2	2	4	3	2	rs1276708	byFrequency	TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr10:16989253G>A	ENST00000377833.4	-	36	5388	c.5323C>T	c.(5323-5325)Cgg>Tgg	p.R1775W		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	1775	CUB 12. {ECO:0000255|PROSITE- ProRule:PRU00059}.		R -> W (in dbSNP:rs1276708).		cholesterol metabolic process (GO:0008203)|cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|tissue homeostasis (GO:0001894)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|cobalamin binding (GO:0031419)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)|transporter activity (GO:0005215)	p.R1775W(1)		breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	AGCTGGAGCCGGTTGCCAGGG	0.453																																						ENST00000377833.4																			1	Substitution - Missense(1)	p.R1775W(1)	endometrium(1)	breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241						c.(5323-5325)Cgg>Tgg		cubilin (intrinsic factor-cobalamin receptor)	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	C	TRP/ARG	0,4406		0,0,2203	82	77	78		5323	3.6	0.7	10	dbSNP_87	78	2,8598	1.2+/-3.3	0,2,4298	no	missense	CUBN	NM_001081.3	101	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	probably-damaging	1775/3624	16989253	2,13004	2203	4300	6503	SO:0001583	missense	8029				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity	g.chr10:16989253G>A	AF034611	CCDS7113.1	10p12	2014-09-17			ENSG00000107611	ENSG00000107611			2548	protein-coding gene	gene with protein product		602997		MGA1		9572993, 9478979	Standard	NM_001081		Approved	IFCR, gp280	uc001ioo.3	O60494	OTTHUMG00000017741	ENST00000377833.4:c.5323C>T	10.37:g.16989253G>A	ENSP00000367064:p.Arg1775Trp						p.R1775W	NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN			36	5388	-			1775		R -> W (in dbSNP:rs1276708).	CUB 12.		B0YIZ4|Q5VTA6|Q96RU9	Missense_Mutation	SNP	ENST00000377833.4	37	c.5323C>T	CCDS7113.1	.	.	.	.	.	.	.	.	.	.	g	16.91	3.251902	0.59212	0.0	2.33E-4	ENSG00000107611	ENST00000377833	T	0.19532	2.14	5.46	3.6	0.41247	CUB (5);	1.600350	0.03855	N	0.272994	T	0.54382	0.1855	M	0.86343	2.81	0.80722	D	1	D	0.76494	0.999	D	0.64877	0.93	T	0.08932	-1.0698	10	0.49607	T	0.09	.	13.1347	0.59403	0.0:0.1228:0.7491:0.128	rs1276708;rs1617293;rs1276708	1775	O60494	CUBN_HUMAN	W	1775	ENSP00000367064:R1775W	ENSP00000367064:R1775W	R	-	1	2	CUBN	17029259	1.000000	0.71417	0.662000	0.29724	0.615000	0.37417	5.145000	0.64839	0.774000	0.33427	-0.121000	0.15023	CGG		0.453	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047009.1	NM_001081		4	21	0	0	0	1	0	4	21					A	16989253	G	A	16989253	3	1	286	1	0	0	0	0	1	0	0	0	4051	1115	39	2	5676	2	CUBN	10	16989253	Missense_Mutation	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	13808993	16989253	118545494	344	13474											
MYO3A	53904	broad.mit.edu	37	chr10	26455002	26455002	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ttttccattccaaggtactaCcttctctgctacaagtcgag	9	14	6	12	1	1	0	0	0	1	0	5	1	3	0	3	1	4	2	3	1	5	7			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr10:26455002C>T	ENST00000265944.5	+	27	3172	c.3006C>T	c.(3004-3006)taC>taT	p.Y1002Y	MYO3A_ENST00000543632.1_Intron	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	1002	Myosin motor.				ATP catabolic process (GO:0006200)|inner ear development (GO:0048839)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of filopodium assembly (GO:0051491)|protein autophosphorylation (GO:0046777)|response to stimulus (GO:0050896)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|filamentous actin (GO:0031941)|filopodium (GO:0030175)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|photoreceptor inner segment (GO:0001917)|stereocilium bundle tip (GO:0032426)	actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|plus-end directed microfilament motor activity (GO:0060002)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						CAAGGTACTACCTTCTCTGCT	0.502																																						ENST00000265944.5																			0				NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						c.(3004-3006)taC>taT		myosin IIIA							166	177	173					10																	26455002		2203	4300	6503	SO:0001819	synonymous_variant	53904				protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity	g.chr10:26455002C>T	AF229172	CCDS7148.1	10p11.1	2011-09-27	2004-05-19		ENSG00000095777	ENSG00000095777		"Myosins / Myosin superfamily : Class III"	7601	protein-coding gene	gene with protein product		606808	"deafness, autosomal recessive 30"	DFNB30		10936054	Standard	NM_017433		Approved		uc001isn.2	Q8NEV4	OTTHUMG00000017837	ENST00000265944.5:c.3006C>T	10.37:g.26455002C>T						MYO3A_ENST00000543632.1_Intron	p.Y1002Y	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN			27	3172	+			1002			Myosin head-like.		Q4G0X2|Q5VZ28|Q8WX17|Q9NYS8	Silent	SNP	ENST00000265944.5	37	c.3006C>T	CCDS7148.1																																																																																				0.502	MYO3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047259.1	NM_017433		28	136	0	0	0	1	0	28	136					T	26455002	C	T	26455002	2	4	286	1	0	0	0	0	0	0	0	1	10076	518	18	3		3	MYO3A	10	26455002	Silent	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	9465749	26455002	109079745	345	13475											
KIAA1462	57608	broad.mit.edu	37	chr10	30315489	30315489	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgttcgaagaacttggactcCaaggggctgggctcaggctc	8	9	14	10	1	1	1	1	0	0	1	4	3	2	2	1	5	1	4	1	5	3	2			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr10:30315489C>T	ENST00000375377.1	-	3	3689	c.3588G>A	c.(3586-3588)ttG>ttA	p.L1196L		NM_020848.2	NP_065899.1	Q9P266	JCAD_HUMAN	KIAA1462	1196					cell adhesion (GO:0007155)	cell-cell junction (GO:0005911)				breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						ACTTGGACTCCAAGGGGCTGG	0.547																																						ENST00000375377.1																			0				breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						c.(3586-3588)ttG>ttA		KIAA1462							148	145	146					10																	30315489		1891	4128	6019	SO:0001819	synonymous_variant	57608							g.chr10:30315489C>T	AB040895	CCDS41500.1	10p12.1	2013-04-23			ENSG00000165757	ENSG00000165757			29283	protein-coding gene	gene with protein product	"junctional protein associated with coronary artery disease"	614398				10819331, 21884682	Standard	NM_020848		Approved	JCAD	uc001iux.3	Q9P266	OTTHUMG00000017885	ENST00000375377.1:c.3588G>A	10.37:g.30315489C>T							p.L1196L	NM_020848.2	NP_065899.1	Q9P266	K1462_HUMAN			3	3689	-			1196					Q5HYA7|Q5T992|Q86WZ9|Q9BYJ2	Silent	SNP	ENST00000375377.1	37	c.3588G>A	CCDS41500.1																																																																																				0.547	KIAA1462-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047409.1	NM_020848		28	139	0	0	0	1	0	28	139					T	30315489	C	T	30315489	2	4	286	1	0	0	0	0	0	0	0	1	8234	593	21	3		3	KIAA1462	10	30315489	Silent	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	3860487	30315489	105219258	346	13476											
PHYHIPL	84457	broad.mit.edu	37	chr10	60994140	60994140	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aacatcaaaataagcaatatAacgtgtgactcattcaagat	19	10	5	7	1	3	2	3	1	0	1	3	2	3	2	0	0	3	1	0	0	8	4			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr10:60994140A>G	ENST00000373880.4	+	2	447	c.183A>G	c.(181-183)atA>atG	p.I61M	PHYHIPL_ENST00000373878.3_Missense_Mutation_p.I35M	NM_032439.3	NP_115815.2	Q96FC7	PHIPL_HUMAN	phytanoyl-CoA 2-hydroxylase interacting protein-like	61	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.					cytoplasm (GO:0005737)|mitochondrion (GO:0005739)				NS(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(3)|skin(1)|urinary_tract(1)	18						TAAGCAATATAACGTGTGACT	0.368																																						ENST00000373880.4																			0				NS(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(3)|skin(1)|urinary_tract(1)	18						c.(181-183)atA>atG		phytanoyl-CoA 2-hydroxylase interacting protein-like							114	102	106					10																	60994140		2203	4299	6502	SO:0001583	missense	84457							g.chr10:60994140A>G	AL834339	CCDS7254.1, CCDS44405.1	10q21.1	2013-02-11	2006-01-09		ENSG00000165443	ENSG00000165443		"Fibronectin type III domain containing"	29378	protein-coding gene	gene with protein product			"phytanoyl-CoA hydroxylase interacting protein-like"			11347906	Standard	NM_032439		Approved	KIAA1796, Em:AC025038.1	uc001jkk.4	Q96FC7	OTTHUMG00000018276	ENST00000373880.4:c.183A>G	10.37:g.60994140A>G	ENSP00000362987:p.Ile61Met					PHYHIPL_ENST00000373878.3_Missense_Mutation_p.I35M	p.I61M	NM_032439.3	NP_115815.2	Q96FC7	PHIPL_HUMAN			2	447	+			61			Fibronectin type-III.		B7WP61|Q68DF3|Q6UXY3|Q8N3W3|Q96JM9|Q96NP7	Missense_Mutation	SNP	ENST00000373880.4	37	c.183A>G	CCDS7254.1	.	.	.	.	.	.	.	.	.	.	A	19.77	3.889649	0.72524	.	.	ENSG00000165443	ENST00000373880;ENST00000373878	T;T	0.59638	0.25;0.25	5.62	-2.89	0.05665	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.068623	0.64402	D	0.000014	T	0.54967	0.1891	L	0.29908	0.895	0.80722	D	1	D;D	0.60160	0.984;0.987	P;D	0.65010	0.877;0.931	T	0.55736	-0.8094	10	0.72032	D	0.01	-45.9301	8.3018	0.32019	0.157:0.6246:0.0:0.2184	.	35;61	Q96FC7-2;Q96FC7	.;PHIPL_HUMAN	M	61;35	ENSP00000362987:I61M;ENSP00000362985:I35M	ENSP00000362985:I35M	I	+	3	3	PHYHIPL	60664146	1.000000	0.71417	0.992000	0.48379	0.970000	0.65996	1.057000	0.30492	-0.304000	0.08843	-0.302000	0.09304	ATA		0.368	PHYHIPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048156.1	NM_032439		4	24	0	0	0	1	0	4	24					G	60994140	A	G	60994140	3	3	286	1	0	0	0	0	1	0	0	0	11867	352	13	4	221	4	PHYHIPL	10	60994140	Missense_Mutation	SNP	A	TCGA-J9-A52C-01A-11D-A26M-08	30678651	60994140	74540607	347	13477											
ANK3	288	broad.mit.edu	37	chr10	61819478	61819478	+	Intron	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	agacatacattctccaactgGctctcatctacatccactgc	11	11	4	15	0	3	1	1	0	3	1	6	1	4	1	2	1	4	1	2	1	3	3			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr10:61819478G>A	ENST00000280772.2	-	41	12787				ANK3_ENST00000355288.2_Silent_p.S815S|RP11-388P9.2_ENST00000414383.1_RNA|ANK3_ENST00000373827.2_Silent_p.S1675S|ANK3_ENST00000503366.1_Silent_p.S1682S	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)						axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization (GO:0045184)|Golgi to plasma membrane protein transport (GO:0043001)|maintenance of protein location in plasma membrane (GO:0072660)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|neuromuscular junction development (GO:0007528)|neuronal action potential (GO:0019228)|plasma membrane organization (GO:0007009)|positive regulation of cell communication by electrical coupling (GO:0010650)|positive regulation of gene expression (GO:0010628)|positive regulation of homotypic cell-cell adhesion (GO:0034112)|positive regulation of membrane depolarization during cardiac muscle cell action potential (GO:1900827)|positive regulation of membrane potential (GO:0045838)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein localization to plasma membrane (GO:0072659)|protein targeting to plasma membrane (GO:0072661)|regulation of potassium ion transport (GO:0043266)|signal transduction (GO:0007165)	axon initial segment (GO:0043194)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|costamere (GO:0043034)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|lysosome (GO:0005764)|neuromuscular junction (GO:0031594)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|T-tubule (GO:0030315)|Z disc (GO:0030018)	cadherin binding (GO:0045296)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						TCTCCAACTGGCTCTCATCTA	0.458																																						ENST00000373827.2																			0				NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						c.(5023-5025)agC>agT		ankyrin 3, node of Ranvier (ankyrin G)							156	151	153					10																	61819478		2203	4300	6503	SO:0001627	intron_variant	288				establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding	g.chr10:61819478G>A	U13616	CCDS7258.1, CCDS7259.1, CCDS55711.1, CCDS55712.1	10q21	2013-01-10			ENSG00000151150	ENSG00000151150		"Ankyrin repeat domain containing"	494	protein-coding gene	gene with protein product	"ankyrin-3, node of Ranvier", "ankyrin-G"	600465				7665168	Standard	NM_020987		Approved		uc001jky.3	Q12955	OTTHUMG00000018288	ENST00000280772.2:c.12596-290C>T	10.37:g.61819478G>A						ANK3_ENST00000355288.2_Silent_p.S815S|ANK3_ENST00000503366.1_Silent_p.S1682S|ANK3_ENST00000280772.1_Intron|RP11-388P9.2_ENST00000414383.1_RNA	p.S1675S	NM_001204403.1	NP_001191332.1	Q12955	ANK3_HUMAN			40	5195	-			3753			Ser-rich.		B1AQT2|B4DIL1|E9PE32|Q13484|Q5CZH9|Q5VXD5|Q7Z3G4|Q9H0P5	Silent	SNP	ENST00000280772.2	37	c.5025C>T	CCDS7258.1	.	.	.	.	.	.	.	.	.	.	G	13.82	2.351999	0.41700	.	.	ENSG00000151150	ENST00000514197;ENST00000511043	.	.	.	5.51	4.55	0.56014	.	.	.	.	.	T	0.70850	0.3271	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.69548	-0.5116	4	.	.	.	.	15.1101	0.72349	0.0:0.0:0.8579:0.1421	.	.	.	.	V	197;181	.	.	A	-	2	0	ANK3	61489484	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.007000	0.63984	2.595000	0.87683	0.561000	0.74099	GCC		0.458	ANK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048201.4	NM_020987		11	101	0	0	0	1	0	11	101					A	61819478	G	A	61819478	1	1	286	0	1	0	0	0	0	0	0	0	622	1194	42	3		3	ANK3	10	61819478	Intron	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	825338	61819478	73715269	348	13478											
C10orf27	219793	broad.mit.edu	37	chr10	72541754	72541754	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccctggggctccttggcttgCgccctgacttcttctccagt	2	13	10	16	1	2	1	0	1	2	0	4	1	3	1	4	3	1	2	4	3	0	4	rs200788611		TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr10:72541754C>T	ENST00000299290.1	-	4	469	c.80G>A	c.(79-81)cGc>cAc	p.R27H	TBATA_ENST00000456372.2_Missense_Mutation_p.R27H|TBATA_ENST00000545575.1_Missense_Mutation_p.R17H	NM_152710.2	NP_689923	Q96M53	TBATA_HUMAN	thymus, brain and testes associated	27					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytosol (GO:0005829)|nucleus (GO:0005634)											CCTTGGCTTGCGCCCTGACTT	0.592																																						ENST00000299290.1																			0											c.(79-81)cGc>cAc		thymus, brain and testes associated							73	77	75					10																	72541754		2203	4300	6503	SO:0001583	missense	219793							g.chr10:72541754C>T	AK057382	CCDS7308.1	10q22.2	2012-05-23	2012-05-23	2012-05-23	ENSG00000166220	ENSG00000166220			23511	protein-coding gene	gene with protein product		612640	"chromosome 10 open reading frame 27"	C10orf27		20937703	Standard	NM_152710		Approved	FLJ32820, spatial	uc001jrj.1	Q96M53	OTTHUMG00000018413	ENST00000299290.1:c.80G>A	10.37:g.72541754C>T	ENSP00000299290:p.Arg27His					TBATA_ENST00000545575.1_Missense_Mutation_p.R17H|TBATA_ENST00000456372.2_Missense_Mutation_p.R27H	p.R27H	NM_152710.2	NP_689923.2					4	469	-								A4QPA8|B2RPQ2|Q5T4G2	Missense_Mutation	SNP	ENST00000299290.1	37	c.80G>A	CCDS7308.1	.	.	.	.	.	.	.	.	.	.	c	1.001	-0.691041	0.03303	.	.	ENSG00000166220	ENST00000299290;ENST00000536955;ENST00000456372;ENST00000545575	T	0.42513	0.97	5.16	-10.3	0.00346	.	2.595140	0.00973	N	0.003262	T	0.09113	0.0225	N	0.00347	-1.61	0.09310	N	1	B;B;B;B;B;B	0.10296	0.002;0.003;0.001;0.001;0.001;0.001	B;B;B;B;B;B	0.06405	0.001;0.002;0.001;0.0;0.001;0.0	T	0.35450	-0.9788	10	0.29301	T	0.29	0.8149	2.1381	0.03768	0.1711:0.2167:0.3799:0.2324	.	16;16;27;27;17;27	B7Z8D7;B7Z8G0;B7ZMN4;B7ZMN5;B7Z8I8;Q96M53	.;.;.;.;.;SPATL_HUMAN	H	27;14;27;17	ENSP00000299290:R27H	ENSP00000299290:R27H	R	-	2	0	C10orf27	72211760	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.368000	0.02580	-2.434000	0.00554	-2.674000	0.00144	CGC		0.592	TBATA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048519.1	NM_152710		14	74	0	0	0	1	0	14	74					T	72541754	C	T	72541754	3	4	286	1	0	0	0	0	1	0	0	0	1600	768	27	1	1007	1	C10orf27	10	72541754	Missense_Mutation	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	10722276	72541754	62992993	349	13479											
UNC5B	219699	broad.mit.edu	37	chr10	73048739	73048739	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gaaaactctaagcgaccccaAcagccaccgtaagtcccatt	14	6	6	15	2	1	0	0	0	1	0	2	2	2	0	5	0	4	1	5	0	5	3	rs552655855		TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr10:73048739A>T	ENST00000335350.6	+	8	1507	c.1091A>T	c.(1090-1092)aAc>aTc	p.N364I	UNC5B_ENST00000373192.4_Intron	NM_170744.4	NP_734465.2	Q8IZJ1	UNC5B_HUMAN	unc-5 homolog B (C. elegans)	364					anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of apoptotic process (GO:0043065)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(4)|skin(4)	49						AGCGACCCCAACAGCCACCGT	0.522																																						ENST00000335350.6																			0				breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(4)|skin(4)	49						c.(1090-1092)aAc>aTc		unc-5 homolog B (C. elegans)							118	108	111					10																	73048739		2203	4300	6503	SO:0001583	missense	219699				apoptosis|axon guidance|regulation of apoptosis	integral to membrane		g.chr10:73048739A>T	AB096256	CCDS7309.1, CCDS58083.1	10q22.2	2013-01-11	2001-11-28		ENSG00000107731	ENSG00000107731		"Immunoglobulin superfamily / I-set domain containing"	12568	protein-coding gene	gene with protein product		607870	"unc5 (C.elegans homolog) b"				Standard	NM_170744		Approved	UNC5H2, p53RDL1	uc001jro.3	Q8IZJ1	OTTHUMG00000018422	ENST00000335350.6:c.1091A>T	10.37:g.73048739A>T	ENSP00000334329:p.Asn364Ile					UNC5B_ENST00000373192.4_Intron	p.N364I	NM_170744.4	NP_734465.2	Q8IZJ1	UNC5B_HUMAN			8	1507	+			364					Q5T3R9|Q5T3S0|Q86SN3|Q8N1Y2|Q9H9F3	Missense_Mutation	SNP	ENST00000335350.6	37	c.1091A>T	CCDS7309.1	.	.	.	.	.	.	.	.	.	.	A	14.66	2.602014	0.46423	.	.	ENSG00000107731	ENST00000335350	T	0.47177	0.85	5.16	5.16	0.70880	.	0.370635	0.32987	N	0.005402	T	0.30262	0.0759	N	0.08118	0	0.80722	D	1	B	0.09022	0.002	B	0.10450	0.005	T	0.07578	-1.0765	10	0.40728	T	0.16	-0.1301	15.0164	0.71588	1.0:0.0:0.0:0.0	.	364	Q8IZJ1	UNC5B_HUMAN	I	364	ENSP00000334329:N364I	ENSP00000334329:N364I	N	+	2	0	UNC5B	72718745	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.600000	0.54052	1.951000	0.56629	0.533000	0.62120	AAC		0.522	UNC5B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048541.1	NM_170744		7	21	0	0	0	1	0	7	21					T	73048739	A	T	73048739	3	4	286	1	0	0	0	0	1	0	0	0	16989	43	2	5	1121	5	UNC5B	10	73048739	Missense_Mutation	SNP	A	TCGA-J9-A52C-01A-11D-A26M-08	506985	73048739	62486008	350	13480											
AP3M1	26985	broad.mit.edu	37	chr10	75888897	75888897	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gacacggtatgatatgagtcGgaaatttccatctggaggaa	13	10	12	6	2	1	2	0	2	1	0	3	6	2	5	1	4	0	1	1	4	4	3	rs190136804		TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr10:75888897G>A	ENST00000355264.4	-	6	1083	c.772C>T	c.(772-774)Cga>Tga	p.R258*	AP3M1_ENST00000372745.1_Nonsense_Mutation_p.R258*	NM_012095.4	NP_036227.1	Q9Y2T2	AP3M1_HUMAN	adaptor-related protein complex 3, mu 1 subunit	258	MHD. {ECO:0000255|PROSITE- ProRule:PRU00404}.				anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|protein targeting to lysosome (GO:0006622)	clathrin adaptor complex (GO:0030131)|cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)	Rab GTPase binding (GO:0017137)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(1)|lung(1)|prostate(1)|skin(1)	13	Prostate(51;0.0112)					GATATGAGTCGGAAATTTCCA	0.438																																						ENST00000355264.4																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(1)|lung(1)|prostate(1)|skin(1)	13						c.(772-774)Cga>Tga		adaptor-related protein complex 3, mu 1 subunit		G	stop/ARG,stop/ARG	0,4406		0,0,2203	103	95	98		772,772	4.4	1	10		98	1,8599	1.2+/-3.3	0,1,4299	no	stop-gained,stop-gained	AP3M1	NM_012095.4,NM_207012.2	,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,	258/419,258/419	75888897	1,13005	2203	4300	6503	SO:0001587	stop_gained	26985				protein targeting to lysosome|vesicle-mediated transport	clathrin adaptor complex|Golgi apparatus|lysosome	protein binding	g.chr10:75888897G>A	AF092092	CCDS7342.1	10q22.1-q22.3	2008-07-07			ENSG00000185009	ENSG00000185009			569	protein-coding gene	gene with protein product		610366				10024875	Standard	NM_207012		Approved		uc001jwh.3	Q9Y2T2	OTTHUMG00000018497	ENST00000355264.4:c.772C>T	10.37:g.75888897G>A	ENSP00000347408:p.Arg258*					AP3M1_ENST00000372745.1_Nonsense_Mutation_p.R258*	p.R258*	NM_012095.4	NP_036227.1	Q9Y2T2	AP3M1_HUMAN			6	1083	-	Prostate(51;0.0112)		258			MHD.		Q5JQ12|Q9H5L2	Nonsense_Mutation	SNP	ENST00000355264.4	37	c.772C>T	CCDS7342.1	169	0.07738095238095238	53	0.10772357723577236	20	0.055248618784530384	34	0.05944055944055944	62	0.08179419525065963	G	38	6.856672	0.97889	0.0	1.16E-4	ENSG00000185009	ENST00000355264;ENST00000372745	.	.	.	5.33	4.43	0.53597	.	0.300724	0.29916	N	0.010878	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.18276	T	0.48	.	13.5598	0.61782	0.0:0.0:0.6598:0.3402	.	.	.	.	X	258	.	ENSP00000347408:R258X	R	-	1	2	AP3M1	75558903	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	3.576000	0.53878	1.242000	0.43836	-0.470000	0.05040	CGA		0.438	AP3M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048747.1			9	43	0	0	0	1	0	9	43					A	75888897	G	A	75888897	4	1	286	1	0	0	0	0	0	1	0	0	747	1124	39	2	500	2	AP3M1	10	75888897	Nonsense_Mutation	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	2840158	75888897	59645850	351	13481											
DUSP13	51207	broad.mit.edu	37	chr10	76861673	76861673	+	5'Flank	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acttctctgacgggcagttcGtgctgctggctttcagccgc	4	12	12	13	3	2	1	1	1	1	0	4	1	2	1	1	2	3	5	1	2	0	3	rs536279604	byFrequency	TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr10:76861673G>A	ENST00000472493.2	-	0	0				DUSP13_ENST00000478873.2_5'Flank|DUSP13_ENST00000491677.2_Missense_Mutation_p.T113M|DUSP13_ENST00000372702.3_3'UTR|DUSP13_ENST00000605915.1_5'Flank|DUSP13_ENST00000607009.1_Intron|DUSP13_ENST00000372700.3_Intron|DUSP13_ENST00000607131.1_Missense_Mutation_p.T77M	NM_016364.3	NP_057448.3	Q9UII6	DS13B_HUMAN	dual specificity phosphatase 13						meiotic nuclear division (GO:0007126)|protein dephosphorylation (GO:0006470)|spermatogenesis (GO:0007283)		protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1)	8	all_cancers(46;0.0207)|all_epithelial(25;0.00126)|Prostate(51;0.0112)|Ovarian(15;0.0348)					CGGGCAGTTCGTGCTGCTGGC	0.522													G|||	2	0.000399361	0.0015	0	5008	,	,		18061	0		0	False		,,,				2504	0				NSCLC(174;1655 2059 12324 40663 42963)	ENST00000491677.2																			0				large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1)	8						c.(337-339)aCg>aTg		dual specificity phosphatase 13							103	100	101					10																	76861673		2203	4300	6503	SO:0001631	upstream_gene_variant	0					cytoplasm	protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr10:76861673G>A	AB027004	CCDS7346.1, CCDS31224.1, CCDS53542.1	10q23.1	2013-10-25			ENSG00000079393	ENSG00000079393		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Atypical dual specificity phosphatases"	19681	protein-coding gene	gene with protein product		613191				10585869	Standard	XM_005269883		Approved	BEDP, TMDP, FLJ32450, DUSP13A, DUSP13B	uc001jwu.3	Q6B8I1	OTTHUMG00000018516		10.37:g.76861673G>A	Exception_encountered					DUSP13_ENST00000607009.1_Intron|DUSP13_ENST00000607131.1_Missense_Mutation_p.T77M|DUSP13_ENST00000372700.3_Intron|DUSP13_ENST00000372702.3_3'UTR	p.T113M	NM_001007271.1	NP_001007272.1	Q6B8I1	MDSP_HUMAN			5	880	-	all_cancers(46;0.0207)|all_epithelial(25;0.00126)|Prostate(51;0.0112)|Ovarian(15;0.0348)		0			Tyrosine-protein phosphatase.		A8K776|A8K782|B3KPY1|B3KXT0|B4DUK0|Q5JSC6|Q6IAR0|Q96GC2	Missense_Mutation	SNP	ENST00000472493.2	37	c.338C>T	CCDS7346.1	.	.	.	.	.	.	.	.	.	.	G	13.97	2.396774	0.42512	.	.	ENSG00000079393	ENST00000491677;ENST00000372698	T	0.05786	3.39	4.14	3.22	0.36961	.	1.356430	0.05059	N	0.479505	T	0.08492	0.0211	N	0.24115	0.695	0.09310	N	0.999994	D	0.54047	0.964	P	0.47744	0.556	T	0.39078	-0.9631	10	0.48119	T	0.1	-6.2409	9.2184	0.37362	0.0:0.0:0.7704:0.2296	.	113	F2Z2C4	.	M	113;77	ENSP00000436312:T113M	ENSP00000361783:T77M	T	-	2	0	DUSP13	76531679	0.022000	0.18835	0.009000	0.14445	0.126000	0.20510	0.969000	0.29370	1.301000	0.44836	0.655000	0.94253	ACG		0.522	DUSP13-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000048786.3			22	73	0	0	0	1	0	22	73					A	76861673	G	A	76861673	1	1	286	0	1	0	0	0	0	0	0	0	4813	1145	40	1		1	DUSP13	10	76861673	5'Flank	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	972776	76861673	58673074	352	13482											
WAPAL	23063	broad.mit.edu	37	chr10	88277682	88277682	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gatatctggtttgaaattggGcctcttctgccctaatttag	8	16	9	8	0	3	1	0	1	3	0	3	2	3	1	2	2	1	1	2	2	4	7			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr10:88277682G>A	ENST00000298767.5	-	2	617	c.145C>T	c.(145-147)Ccc>Tcc	p.P49S		NM_015045.2	NP_055860.1	Q7Z5K2	WAPL_HUMAN	wings apart-like homolog (Drosophila)	49	Mediates interaction with the cohesin complex.				mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of chromatin binding (GO:0035562)|negative regulation of DNA replication (GO:0008156)|negative regulation of sister chromatid cohesion (GO:0045875)|positive regulation of fibroblast proliferation (GO:0048146)|protein localization to chromatin (GO:0071168)|regulation of chromosome condensation (GO:0060623)|regulation of cohesin localization to chromatin (GO:0071922)|response to toxic substance (GO:0009636)|viral process (GO:0016032)	chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cohesin complex (GO:0008278)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|microtubule cytoskeleton (GO:0015630)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)				breast(2)|endometrium(2)|kidney(5)|large_intestine(6)|lung(13)|ovary(2)|stomach(1)	31						TTGAAATTGGGCCTCTTCTGC	0.403																																						ENST00000298767.5																			0				breast(2)|endometrium(2)|kidney(5)|large_intestine(6)|lung(13)|ovary(2)|stomach(1)	31						c.(145-147)Ccc>Tcc		wings apart-like homolog (Drosophila)							81	80	80					10																	88277682		2203	4300	6503	SO:0001583	missense	23063				cell division|interspecies interaction between organisms|mitosis|negative regulation of chromatin binding|negative regulation of DNA replication|negative regulation of sister chromatid cohesion|protein localization to chromatin|regulation of cohesin localization to chromatin	chromatin|cohesin complex|cytoplasm	protein binding	g.chr10:88277682G>A	AB065003	CCDS7375.1	10q23.31	2006-12-08	2006-03-16	2006-03-16	ENSG00000062650	ENSG00000062650			23293	protein-coding gene	gene with protein product	"friend of EBNA2"	610754	"KIAA0261"	KIAA0261		9039502, 17112726	Standard	XM_006717726		Approved	FOE, WAPL	uc001kdo.3	Q7Z5K2	OTTHUMG00000018651	ENST00000298767.5:c.145C>T	10.37:g.88277682G>A	ENSP00000298767:p.Pro49Ser						p.P49S	NM_015045.2	NP_055860.1	Q7Z5K2	WAPL_HUMAN			2	617	-			49			Mediates interaction with the cohesin complex.		A7E2B5|Q5VSK5|Q8IX10|Q92549	Missense_Mutation	SNP	ENST00000298767.5	37	c.145C>T	CCDS7375.1	.	.	.	.	.	.	.	.	.	.	G	17.79	3.474808	0.63737	.	.	ENSG00000062650	ENST00000342368;ENST00000298767;ENST00000372076	T	0.31510	1.49	5.41	5.41	0.78517	.	0.142950	0.48286	D	0.000191	T	0.54822	0.1882	L	0.58101	1.795	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.994;0.994;0.998	T	0.56245	-0.8011	10	0.87932	D	0	.	19.1959	0.93689	0.0:0.0:1.0:0.0	.	134;49;49;92	Q7Z5K2-3;B2RTX8;Q7Z5K2;Q7Z5K2-2	.;.;WAPL_HUMAN;.	S	134;49;134	ENSP00000298767:P49S	ENSP00000298767:P49S	P	-	1	0	WAPAL	88267662	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	6.432000	0.73400	2.549000	0.85964	0.650000	0.86243	CCC		0.403	WAPAL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049151.2	NM_015045		6	31	0	0	0	1	0	6	31					A	88277682	G	A	88277682	3	1	286	1	0	0	0	0	1	0	0	0	17245	1203	42	3	3499	3	WAPAL	10	88277682	Missense_Mutation	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	11416009	88277682	47257065	353	13483											
MMRN2	79812	broad.mit.edu	37	chr10	88702895	88702895	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctcgccctccgctttgtgcGcgtccacggccagcgacacg	4	7	12	18	7	0	0	0	0	0	0	3	1	2	0	4	1	2	2	4	1	0	1			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr10:88702895G>A	ENST00000372027.5	-	6	1967	c.1646C>T	c.(1645-1647)gCg>gTg	p.A549V	MMRN2_ENST00000488950.1_5'Flank	NM_024756.2	NP_079032.2	Q9H8L6	MMRN2_HUMAN	multimerin 2	549					angiogenesis (GO:0001525)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030948)	basement membrane (GO:0005604)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				breast(1)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|skin(1)|stomach(1)	19						CGCTTTGTGCGCGTCCACGGC	0.751																																						ENST00000372027.4																			0				breast(1)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|skin(1)|stomach(1)	19						c.(1645-1647)gCg>gTg		multimerin 2							5	5	5					10																	88702895		2036	3851	5887	SO:0001583	missense	79812					extracellular space		g.chr10:88702895G>A	AK023527	CCDS7379.1	10q23.31	2004-03-10	2004-03-02	2004-03-02	ENSG00000173269	ENSG00000173269		"EMI domain containing"	19888	protein-coding gene	gene with protein product		608925	"elastin microfibril interfacer 3"	EMILIN3		11559704	Standard	NM_024756		Approved	EndoGlyx-1, FLJ13465	uc001kea.3	Q9H8L6	OTTHUMG00000018663	ENST00000372027.5:c.1646C>T	10.37:g.88702895G>A	ENSP00000361097:p.Ala549Val						p.A549V	NM_024756.2	NP_079032.2	Q9H8L6	MMRN2_HUMAN			6	1719	-			549					Q504V7|Q6P2N2	Missense_Mutation	SNP	ENST00000372027.5	37	c.1646C>T	CCDS7379.1	.	.	.	.	.	.	.	.	.	.	G	7.752	0.703475	0.15172	.	.	ENSG00000173269	ENST00000372027;ENST00000443699	T	0.71341	-0.56	5.59	-1.19	0.09585	.	0.712920	0.13258	N	0.401543	T	0.56337	0.1978	L	0.55481	1.735	0.09310	N	1	B;B;B	0.28801	0.223;0.046;0.223	B;B;B	0.22386	0.039;0.006;0.006	T	0.40327	-0.9569	10	0.30854	T	0.27	-3.2417	4.9034	0.13786	0.2289:0.0:0.3331:0.438	.	327;488;549	E7EN39;B4E3H8;Q9H8L6	.;.;MMRN2_HUMAN	V	549;327	ENSP00000361097:A549V	ENSP00000361097:A549V	A	-	2	0	MMRN2	88692875	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-1.035000	0.03564	-0.177000	0.10690	0.462000	0.41574	GCG		0.751	MMRN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049179.2	NM_024756		3	7	0	0	0	1	0	3	7					A	88702895	G	A	88702895	3	1	286	1	0	0	0	0	1	0	0	0	9671	1087	38	1	1211	1	MMRN2	10	88702895	Missense_Mutation	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	425213	88702895	46831852	354	13484											
POLL	27343	broad.mit.edu	37	chr10	103343363	103343363	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	actgatatggtccagcttccGcaaatgcccgctctccagga	9	9	9	14	2	1	1	0	1	1	0	4	2	3	2	4	2	2	3	4	2	2	2			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr10:103343363G>A	ENST00000370162.3	-	6	1461	c.967C>T	c.(967-969)Cgg>Tgg	p.R323W	POLL_ENST00000370169.1_Missense_Mutation_p.R323W|DPCD_ENST00000416979.2_Intron|POLL_ENST00000370172.1_Missense_Mutation_p.R235W|DPCD_ENST00000470165.1_Intron|POLL_ENST00000370158.3_Missense_Mutation_p.R48W|POLL_ENST00000463515.1_5'Flank|POLL_ENST00000436284.2_3'UTR|POLL_ENST00000299206.4_Missense_Mutation_p.R323W|POLL_ENST00000339310.3_Missense_Mutation_p.R46W|POLL_ENST00000456836.2_Missense_Mutation_p.R60W|POLL_ENST00000370168.3_5'Flank	NM_001174084.1|NM_001174085.1|NM_013274.3	NP_001167555.1|NP_001167556.1|NP_037406.1	Q9UGP5	DPOLL_HUMAN	polymerase (DNA directed), lambda	323					DNA replication (GO:0006260)|DNA-dependent DNA replication (GO:0006261)|nucleotide-excision repair (GO:0006289)|somatic hypermutation of immunoglobulin genes (GO:0016446)	nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|lyase activity (GO:0016829)|metal ion binding (GO:0046872)			biliary_tract(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(2)	19		Colorectal(252;0.234)		Epithelial(162;1.55e-08)|all cancers(201;6.64e-07)		TCCAGCTTCCGCAAATGCCCG	0.562								DNA polymerases (catalytic subunits)																														ENST00000370162.3																			0				biliary_tract(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(2)	19						c.(967-969)Cgg>Tgg	DNA polymerases (catalytic subunits)	polymerase (DNA directed), lambda							110	91	98					10																	103343363		2203	4300	6503	SO:0001583	missense	27343				DNA replication|nucleotide-excision repair|somatic hypermutation of immunoglobulin genes	nucleus	DNA binding|DNA-directed DNA polymerase activity|lyase activity|metal ion binding	g.chr10:103343363G>A	AF161019	CCDS7513.1	10q23	2012-05-18			ENSG00000166169	ENSG00000166169		"DNA polymerases"	9184	protein-coding gene	gene with protein product		606343				17686665	Standard	NM_001174084		Approved		uc001kti.2	Q9UGP5	OTTHUMG00000018933	ENST00000370162.3:c.967C>T	10.37:g.103343363G>A	ENSP00000359181:p.Arg323Trp					DPCD_ENST00000470165.1_Intron|POLL_ENST00000456836.2_Missense_Mutation_p.R60W|POLL_ENST00000436284.2_3'UTR|DPCD_ENST00000416979.2_Intron|POLL_ENST00000370158.3_Missense_Mutation_p.R48W|POLL_ENST00000370169.1_Missense_Mutation_p.R323W|POLL_ENST00000370172.1_Missense_Mutation_p.R235W|POLL_ENST00000299206.4_Missense_Mutation_p.R323W|POLL_ENST00000339310.3_Missense_Mutation_p.R46W	p.R323W	NM_001174084.1|NM_001174085.1|NM_013274.3	NP_001167555.1|NP_001167556.1|NP_037406.1	Q9UGP5	DPOLL_HUMAN		Epithelial(162;1.55e-08)|all cancers(201;6.64e-07)	6	1461	-		Colorectal(252;0.234)	323					D3DR76|Q5JQP5|Q6NUM2|Q9BTN8|Q9HA10|Q9HB35	Missense_Mutation	SNP	ENST00000370162.3	37	c.967C>T	CCDS7513.1	.	.	.	.	.	.	.	.	.	.	G	17.15	3.317264	0.60524	.	.	ENSG00000166169	ENST00000299206;ENST00000370174;ENST00000370169;ENST00000339310;ENST00000370172;ENST00000370162;ENST00000370158;ENST00000370157;ENST00000456836;ENST00000415897;ENST00000429502;ENST00000426919	T;T;T;T;T;T;T;T;T;T	0.77489	0.88;0.88;0.88;0.88;0.88;0.88;0.88;0.88;0.88;-1.1	5.83	3.9	0.45041	DNA-directed DNA polymerase X (1);DNA-directed DNA polymerase, family X, beta-like, N-terminal (2);	0.000000	0.85682	D	0.000000	D	0.89722	0.6797	M	0.90198	3.095	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.85130	0.922;0.956;0.955;0.997;0.93	D	0.91303	0.5068	10	0.87932	D	0	-12.2606	14.9184	0.70815	0.0:0.0:0.7387:0.2613	.	46;60;48;323;231	Q5JQP4;B4DEF5;Q9BTN8;Q9UGP5;A8K860	.;.;.;DPOLL_HUMAN;.	W	323;323;323;46;235;323;48;323;60;231;46;334	ENSP00000299206:R323W;ENSP00000359188:R323W;ENSP00000343102:R46W;ENSP00000359191:R235W;ENSP00000359181:R323W;ENSP00000359177:R48W;ENSP00000390810:R60W;ENSP00000400676:R231W;ENSP00000406791:R46W;ENSP00000411678:R334W	ENSP00000299206:R323W	R	-	1	2	POLL	103333353	1.000000	0.71417	1.000000	0.80357	0.016000	0.09150	2.979000	0.49313	0.729000	0.32403	0.563000	0.77884	CGG		0.562	POLL-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049946.1	NM_013274		15	50	0	0	0	1	0	15	50					A	103343363	G	A	103343363	3	1	286	1	0	0	0	0	1	0	0	0	12205	1086	38	1	776	1	POLL	10	103343363	Missense_Mutation	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	14640468	103343363	32191384	355	13485											
NT5C2	22978	broad.mit.edu	37	chr10	104859733	104859733	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tacatcctggaacatactccGgtaggacatgaagaggtccc	12	8	10	11	1	0	2	0	1	0	1	3	4	3	4	3	4	3	1	3	4	5	3			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr10:104859733G>A	ENST00000404739.3	-	7	606	c.583C>T	c.(583-585)Cgg>Tgg	p.R195W	NT5C2_ENST00000423468.2_Missense_Mutation_p.R166W|NT5C2_ENST00000369857.4_5'UTR|NT5C2_ENST00000343289.5_Missense_Mutation_p.R195W			P49902	5NTC_HUMAN	5'-nucleotidase, cytosolic II	195					cell death (GO:0008219)|dephosphorylation (GO:0016311)|drug metabolic process (GO:0017144)|nucleobase-containing small molecule metabolic process (GO:0055086)|phosphorylation (GO:0016310)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide catabolic process (GO:0006195)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	5'-nucleotidase activity (GO:0008253)|metal ion binding (GO:0046872)|nucleoside phosphotransferase activity (GO:0050146)|nucleotide binding (GO:0000166)			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|urinary_tract(1)	16		all_hematologic(284;0.176)|Colorectal(252;0.178)		Epithelial(162;1.33e-08)|all cancers(201;1.04e-07)|BRCA - Breast invasive adenocarcinoma(275;0.159)	Adenosine triphosphate(DB00171)|Ribavirin(DB00811)	AACATACTCCGGTAGGACATG	0.393																																						ENST00000343289.5																			0				cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|urinary_tract(1)	16						c.(583-585)Cgg>Tgg		5'-nucleotidase, cytosolic II	Adenosine triphosphate(DB00171)|Ribavirin(DB00811)						137	129	131					10																	104859733		2203	4300	6503	SO:0001583	missense	22978				purine base metabolic process|purine nucleotide catabolic process	cytosol	5'-nucleotidase activity|metal ion binding|nucleotide binding|protein binding	g.chr10:104859733G>A	D38524	CCDS7544.1	10q24.32	2014-03-03	2002-04-18	2002-04-19	ENSG00000076685	ENSG00000076685			8022	protein-coding gene	gene with protein product	"purine 5' nucleotidase"	600417	"5'-nucleotidase (purine), cytosolic type B"	NT5B		7999131, 24482476	Standard	NM_012229		Approved	PNT5, GMP, cN-II, SPG65	uc001kwq.3	P49902	OTTHUMG00000018981	ENST00000404739.3:c.583C>T	10.37:g.104859733G>A	ENSP00000383960:p.Arg195Trp					NT5C2_ENST00000404739.3_Missense_Mutation_p.R195W|NT5C2_ENST00000369857.4_5'UTR|NT5C2_ENST00000423468.2_Missense_Mutation_p.R166W	p.R195W	NM_001134373.2|NM_012229.4	NP_001127845.1|NP_036361.1	P49902	5NTC_HUMAN		Epithelial(162;1.33e-08)|all cancers(201;1.04e-07)|BRCA - Breast invasive adenocarcinoma(275;0.159)	8	670	-		all_hematologic(284;0.176)|Colorectal(252;0.178)	195					B7Z382|D3DR91|Q5JUV5	Missense_Mutation	SNP	ENST00000404739.3	37	c.583C>T	CCDS7544.1	.	.	.	.	.	.	.	.	.	.	G	12.58	1.981756	0.34942	.	.	ENSG00000076685	ENST00000343289;ENST00000404739;ENST00000423468;ENST00000452156;ENST00000458345;ENST00000369853	T;T;T;T;T	0.22743	1.94;1.94;1.94;1.94;1.94	5.91	5.0	0.66597	HAD-like domain (1);	0.113462	0.64402	D	0.000018	T	0.20659	0.0497	L	0.53617	1.68	0.50171	D	0.999857	P;P;P	0.44195	0.6;0.828;0.6	B;B;B	0.34931	0.066;0.192;0.066	T	0.03566	-1.1024	10	0.87932	D	0	-6.5553	14.54	0.67987	0.0:0.0:0.6836:0.3164	.	166;42;195	B7Z382;B3KXN5;P49902	.;.;5NTC_HUMAN	W	195;195;166;203;126;151	ENSP00000339479:R195W;ENSP00000383960:R195W;ENSP00000392236:R166W;ENSP00000396468:R203W;ENSP00000411330:R126W	ENSP00000339479:R195W	R	-	1	2	NT5C2	104849723	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.114000	0.50383	1.471000	0.48121	0.655000	0.94253	CGG		0.393	NT5C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050121.1	NM_012229		10	87	0	0	0	1	0	10	87					A	104859733	G	A	104859733	3	1	286	1	0	0	0	0	1	0	0	0	10687	1115	39	2	1146	2	NT5C2	10	104859733	Missense_Mutation	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	1516370	104859733	30675014	356	13486											
CALHM1	255022	broad.mit.edu	37	chr10	105215431	105215431	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttgaggaaggcggcctgcGtgaagcagggccgcacagag	9	5	17	10	3	1	3	0	2	1	1	1	4	1	4	2	4	2	2	2	4	2	1			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr10:105215431G>A	ENST00000329905.5	-	2	765	c.629C>T	c.(628-630)aCg>aTg	p.T210M	CALHM2_ENST00000393235.1_5'Flank|RP11-225H22.4_ENST00000411906.1_RNA	NM_001001412.3	NP_001001412.3	Q8IU99	CAHM1_HUMAN	calcium homeostasis modulator 1	210					ATP transport (GO:0015867)|cation transport (GO:0006812)|protein homooligomerization (GO:0051260)|regulation of ion transmembrane transport (GO:0034765)|sensory perception of bitter taste (GO:0050913)|sensory perception of sweet taste (GO:0050916)|sensory perception of umami taste (GO:0050917)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)	calcium activated cation channel activity (GO:0005227)|calcium channel activity (GO:0005262)|identical protein binding (GO:0042802)|voltage-gated ion channel activity (GO:0005244)			large_intestine(2)|liver(1)|lung(5)|ovary(1)	9						GGCGGCCTGCGTGAAGCAGGG	0.612																																						ENST00000329905.5																			0				large_intestine(2)|liver(1)|lung(5)|ovary(1)	9						c.(628-630)aCg>aTg		calcium homeostasis modulator 1							43	40	41					10																	105215431		2203	4300	6503	SO:0001583	missense	255022					endoplasmic reticulum membrane|integral to membrane|plasma membrane	calcium channel activity|identical protein binding	g.chr10:105215431G>A	BC036208	CCDS7550.1	10q24.33	2008-07-02	2008-07-02	2008-07-02	ENSG00000185933	ENSG00000185933			23494	protein-coding gene	gene with protein product		612234	"family with sequence similarity 26, member C"	FAM26C		18585350	Standard	NM_001001412		Approved		uc001kxe.2	Q8IU99	OTTHUMG00000018991	ENST00000329905.5:c.629C>T	10.37:g.105215431G>A	ENSP00000329926:p.Thr210Met					RP11-225H22.4_ENST00000411906.1_RNA	p.T210M	NM_001001412.3	NP_001001412.3	Q8IU99	CAHM1_HUMAN			2	765	-			210					Q5W091	Missense_Mutation	SNP	ENST00000329905.5	37	c.629C>T	CCDS7550.1	.	.	.	.	.	.	.	.	.	.	G	19.68	3.873560	0.72180	.	.	ENSG00000185933	ENST00000329905	T	0.18960	2.18	5.43	4.49	0.54785	.	0.000000	0.85682	D	0.000000	T	0.44159	0.1280	M	0.65975	2.015	0.58432	D	0.999999	D	0.89917	1.0	D	0.69307	0.963	T	0.42616	-0.9441	10	0.87932	D	0	-28.4061	15.9878	0.80174	0.0:0.2489:0.7511:0.0	.	210	Q8IU99	CAHM1_HUMAN	M	210	ENSP00000329926:T210M	ENSP00000329926:T210M	T	-	2	0	CALHM1	105205421	1.000000	0.71417	0.950000	0.38849	0.670000	0.39368	5.212000	0.65225	2.541000	0.85698	0.462000	0.41574	ACG		0.612	CALHM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050165.1	NM_001001412		10	34	0	0	0	1	0	10	34					A	105215431	G	A	105215431	3	1	286	1	0	0	0	0	1	0	0	0	2582	1145	40	1	415	1	CALHM1	10	105215431	Missense_Mutation	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	355698	105215431	30319316	357	13487											
DCLRE1A	9937	broad.mit.edu	37	chr10	115610038	115610038	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttctgagttgtttgcaagacGcaaagcaactcccactagtt	11	12	8	10	1	1	2	0	1	1	1	2	2	2	2	1	0	3	6	1	0	4	5			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr10:115610038G>A	ENST00000361384.2	-	2	1743	c.826C>T	c.(826-828)Cgt>Tgt	p.R276C	DCLRE1A_ENST00000476112.1_5'Flank|DCLRE1A_ENST00000369305.1_Missense_Mutation_p.R276C	NM_014881.3	NP_055696.3	Q6PJP8	DCR1A_HUMAN	DNA cross-link repair 1A	276					mitotic nuclear division (GO:0007067)|nucleotide-excision repair (GO:0006289)	nucleus (GO:0005634)				breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|skin(2)|urinary_tract(1)	31				Epithelial(162;0.0157)|all cancers(201;0.0171)		TTTGCAAGACGCAAAGCAACT	0.383								Other identified genes with known or suspected DNA repair function																														ENST00000361384.2																			0				breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|skin(2)|urinary_tract(1)	31						c.(826-828)Cgt>Tgt	Other identified genes with known or suspected DNA repair function	DNA cross-link repair 1A							92	89	90					10																	115610038		2203	4300	6503	SO:0001583	missense	9937				cell division|mitosis	nucleus	hydrolase activity	g.chr10:115610038G>A		CCDS7584.1	10q25.1	2010-06-24	2010-06-24		ENSG00000198924	ENSG00000198924			17660	protein-coding gene	gene with protein product	"PSO2 homolog (S. cerevisiae)"	609682	"DNA cross-link repair 1A (PSO2 homolog, S. cerevisiae)"			9806498, 17804464	Standard	NM_014881		Approved	SNM1, PSO2, KIAA0086, hSNM1	uc031pxf.1	Q6PJP8	OTTHUMG00000019077	ENST00000361384.2:c.826C>T	10.37:g.115610038G>A	ENSP00000355185:p.Arg276Cys					DCLRE1A_ENST00000369305.1_Missense_Mutation_p.R276C	p.R276C	NM_014881.3	NP_055696.3	Q6PJP8	DCR1A_HUMAN		Epithelial(162;0.0157)|all cancers(201;0.0171)	2	1743	-			276					D3DRC1|Q14701|Q6P5Y3|Q6PKL4	Missense_Mutation	SNP	ENST00000361384.2	37	c.826C>T	CCDS7584.1	.	.	.	.	.	.	.	.	.	.	G	14.32	2.500933	0.44455	.	.	ENSG00000198924	ENST00000361384;ENST00000369305	T;T	0.63913	-0.07;-0.07	6.02	5.1	0.69264	.	1.301500	0.04798	N	0.432977	T	0.46983	0.1421	N	0.08118	0	0.19945	N	0.999945	P	0.46327	0.876	B	0.36766	0.232	T	0.53753	-0.8394	10	0.48119	T	0.1	-3.9787	15.503	0.75716	0.0:0.1376:0.8624:0.0	.	276	Q6PJP8	DCR1A_HUMAN	C	276	ENSP00000355185:R276C;ENSP00000358311:R276C	ENSP00000355185:R276C	R	-	1	0	DCLRE1A	115600028	0.967000	0.33354	0.200000	0.23457	0.851000	0.48451	2.067000	0.41461	1.514000	0.48869	0.650000	0.86243	CGT		0.383	DCLRE1A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050444.1	NM_014881		10	45	0	0	0	1	0	10	45					A	115610038	G	A	115610038	3	1	286	1	0	0	0	0	1	0	0	0	4294	1087	38	1	2328	1	DCLRE1A	10	115610038	Missense_Mutation	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	10394607	115610038	19924709	358	13488											
PDZD8	118987	broad.mit.edu	37	chr10	119044583	119044583	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	catctttggactgaattttcGgtggtagtgggtgacttcct	6	16	12	7	1	1	2	0	2	1	0	3	3	2	3	1	4	0	1	1	4	2	5			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr10:119044583G>A	ENST00000334464.5	-	5	1900	c.1661C>T	c.(1660-1662)cCg>cTg	p.P554L	PDZD8_ENST00000482496.1_5'UTR	NM_173791.3	NP_776152.1	Q8NEN9	PDZD8_HUMAN	PDZ domain containing 8	554	Pro-rich.				cytoskeleton organization (GO:0007010)|intracellular signal transduction (GO:0035556)|regulation of cell morphogenesis (GO:0022604)|viral process (GO:0016032)	membrane (GO:0016020)	metal ion binding (GO:0046872)			kidney(3)|large_intestine(8)|lung(24)|upper_aerodigestive_tract(3)	38		Colorectal(252;0.19)		all cancers(201;0.0121)		CTGAATTTTCGGTGGTAGTGG	0.423																																						ENST00000334464.5																			0				kidney(3)|large_intestine(8)|lung(24)|upper_aerodigestive_tract(3)	38						c.(1660-1662)cCg>cTg		PDZ domain containing 8							143	144	143					10																	119044583		2203	4300	6503	SO:0001583	missense	118987				intracellular signal transduction		metal ion binding	g.chr10:119044583G>A	AL122051	CCDS7600.1	10q26.12	2006-01-24		2006-01-24	ENSG00000165650	ENSG00000165650			26974	protein-coding gene	gene with protein product		614235		PDZK8		12477932	Standard	NM_173791		Approved	bA129M16.2, FLJ34427	uc001lde.1	Q8NEN9	OTTHUMG00000019122	ENST00000334464.5:c.1661C>T	10.37:g.119044583G>A	ENSP00000334642:p.Pro554Leu					PDZD8_ENST00000482496.1_5'UTR	p.P554L	NM_173791.3	NP_776152.1	Q8NEN9	PDZD8_HUMAN		all cancers(201;0.0121)	5	1900	-		Colorectal(252;0.19)	554			Pro-rich.		Q86WE0|Q86WE5|Q9UFF1	Missense_Mutation	SNP	ENST00000334464.5	37	c.1661C>T	CCDS7600.1	.	.	.	.	.	.	.	.	.	.	G	6.795	0.515604	0.12944	.	.	ENSG00000165650	ENST00000334464	D	0.83992	-1.79	5.93	3.97	0.46021	.	0.277484	0.36444	N	0.002588	T	0.67173	0.2865	N	0.08118	0	0.31674	N	0.644032	B	0.09022	0.002	B	0.04013	0.001	T	0.66870	-0.5814	10	0.38643	T	0.18	-7.5409	12.9074	0.58160	0.0:0.1206:0.7468:0.1326	.	554	Q8NEN9	PDZD8_HUMAN	L	554	ENSP00000334642:P554L	ENSP00000334642:P554L	P	-	2	0	PDZD8	119034573	1.000000	0.71417	1.000000	0.80357	0.172000	0.22775	3.079000	0.50104	1.454000	0.47793	0.591000	0.81541	CCG		0.423	PDZD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050565.1	NM_173791		15	64	0	0	0	1	0	15	64					A	119044583	G	A	119044583	3	1	286	1	0	0	0	0	1	0	0	0	11705	1116	39	2	1807	2	PDZD8	10	119044583	Missense_Mutation	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	3434545	119044583	16490164	359	13489											
TACC2	10579	broad.mit.edu	37	chr10	123970380	123970380	+	Frame_Shift_Del	DEL	C	C	-																															caccaagaaacccacagagaCccccccagtgaaggagacgc																										TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr10:123970380delC	ENST00000369005.1	+	9	6780	c.6440delC	c.(6439-6441)accfs	p.T2147fs	TACC2_ENST00000368999.1_Frame_Shift_Del_p.T225fs|TACC2_ENST00000453444.2_Frame_Shift_Del_p.T2151fs|TACC2_ENST00000369004.3_Frame_Shift_Del_p.T225fs|TACC2_ENST00000360561.3_Frame_Shift_Del_p.T225fs|TACC2_ENST00000515603.1_Frame_Shift_Del_p.T2102fs|TACC2_ENST00000358010.1_Frame_Shift_Del_p.T293fs|TACC2_ENST00000369001.1_5'UTR|TACC2_ENST00000369000.1_5'UTR|TACC2_ENST00000513429.1_Frame_Shift_Del_p.T293fs|TACC2_ENST00000334433.3_Frame_Shift_Del_p.T2147fs|TACC2_ENST00000515273.1_Frame_Shift_Del_p.T2151fs|TACC2_ENST00000260733.3_Frame_Shift_Del_p.T225fs	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	2147					astral microtubule organization (GO:0030953)|cerebral cortex development (GO:0021987)|interkinetic nuclear migration (GO:0022027)|neurogenesis (GO:0022008)|regulation of microtubule-based process (GO:0032886)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleus (GO:0005634)	nuclear hormone receptor binding (GO:0035257)			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				CCCACAGAGACCCCCCCAGTG	0.522																																						ENST00000369005.1																			0				NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83						c.(6439-6441)acfs		transforming, acidic coiled-coil containing protein 2							94	107	103					10																	123970380		2203	4300	6503	SO:0001589	frameshift_variant	10579					microtubule organizing center|nucleus	nuclear hormone receptor binding	g.chr10:123970380delC	AF095791	CCDS7625.1, CCDS7626.1, CCDS7627.1, CCDS7628.1	10q26	2008-07-29			ENSG00000138162	ENSG00000138162			11523	protein-coding gene	gene with protein product		605302				14767476	Standard	XM_005269388		Approved	AZU-1	uc001lfv.3	O95359	OTTHUMG00000019181	ENST00000369005.1:c.6440delC	10.37:g.123970380delC	ENSP00000358001:p.Thr2147fs					TACC2_ENST00000360561.3_Frame_Shift_Del_p.T225fs|TACC2_ENST00000334433.3_Frame_Shift_Del_p.T2147fs|TACC2_ENST00000453444.2_Frame_Shift_Del_p.T2151fs|TACC2_ENST00000369001.1_5'UTR|TACC2_ENST00000358010.1_Frame_Shift_Del_p.T293fs|TACC2_ENST00000515273.1_Frame_Shift_Del_p.T2151fs|TACC2_ENST00000368999.1_Frame_Shift_Del_p.T225fs|TACC2_ENST00000515603.1_Frame_Shift_Del_p.T2102fs|TACC2_ENST00000260733.3_Frame_Shift_Del_p.T225fs|TACC2_ENST00000369000.1_5'UTR|TACC2_ENST00000369004.3_Frame_Shift_Del_p.T225fs|TACC2_ENST00000513429.1_Frame_Shift_Del_p.T293fs	p.T2147fs	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN			9	6780	+		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)	2147					Q4VXL0|Q4VXL3|Q4VXL6|Q4VXL7|Q5U5T7|Q86WG6|Q86WG7|Q8TCK9|Q9BVQ1|Q9NZ41|Q9NZR5	Frame_Shift_Del	DEL	ENST00000369005.1	37	c.6440delC	CCDS7626.1																																																																																				0.522	TACC2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090004.1			29	222						29	222	---	---	---	---	-	123970380	C	-	123970380	7	5	286	1	0	1	0	1	0	0	0	0	15499	507	18	0	6542	0	TACC2	10	123970380	Frame_Shift_Del	DEL	C	TCGA-J9-A52C-01A-11D-A26M-08	4925797	123970380	11564367	360	13490											
MKI67	4288	broad.mit.edu	37	chr10	129910063	129910063	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgtactaaattgactgtgAacttcgcccacaggcttctg	9	12	8	12	1	1	2	0	2	1	0	2	2	1	2	2	1	2	2	2	1	4	5			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr10:129910063A>T	ENST00000368654.3	-	11	2481	c.2106T>A	c.(2104-2106)gtT>gtA	p.V702V	MKI67_ENST00000368653.3_Silent_p.V342V|MKI67_ENST00000484853.1_5'UTR	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	702					cell proliferation (GO:0008283)|cellular response to heat (GO:0034605)|DNA metabolic process (GO:0006259)|hyaluronan metabolic process (GO:0030212)|meiotic nuclear division (GO:0007126)|organ regeneration (GO:0031100)|response to organic cyclic compound (GO:0014070)	chromosome, centromeric region (GO:0000775)|condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				ATTGACTGTGAACTTCGCCCA	0.443																																						ENST00000368654.3																			0				NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159						c.(2104-2106)gtT>gtA		marker of proliferation Ki-67							131	127	128					10																	129910063		2203	4300	6503	SO:0001819	synonymous_variant	4288				cell proliferation	nucleolus	ATP binding|protein C-terminus binding	g.chr10:129910063A>T	X65550	CCDS7659.1, CCDS53588.1	10q26.2	2014-06-12	2013-10-10		ENSG00000148773	ENSG00000148773			7107	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 105"	176741	"antigen identified by monoclonal antibody Ki-67"			2571566, 16206250	Standard	NM_002417		Approved	MIB-, PPP1R105	uc001lke.3	P46013	OTTHUMG00000019255	ENST00000368654.3:c.2106T>A	10.37:g.129910063A>T						MKI67_ENST00000368653.3_Silent_p.V342V|MKI67_ENST00000484853.1_5'UTR	p.V702V	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN			11	2481	-		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)	702					Q5VWH2	Silent	SNP	ENST00000368654.3	37	c.2106T>A	CCDS7659.1																																																																																				0.443	MKI67-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050999.1	NM_002417		12	41	0	0	0	1	0	12	41					T	129910063	A	T	129910063	2	4	286	1	0	0	0	0	0	0	0	1	9598	233	9	5		5	MKI67	10	129910063	Silent	SNP	A	TCGA-J9-A52C-01A-11D-A26M-08	5939683	129910063	5624684	361	13491											
KNDC1	85442	broad.mit.edu	37	chr10	134981778	134981778	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acgaccctgagggtgccttcGttccccccgagttcgacgtg	5	9	12	15	5	0	1	0	1	0	0	3	4	1	1	5	1	1	2	5	1	0	3	rs374098393		TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr10:134981778G>A	ENST00000304613.3	+	3	343	c.322G>A	c.(322-324)Gtt>Att	p.V108I	KNDC1_ENST00000368572.2_Missense_Mutation_p.V108I|KNDC1_ENST00000368571.2_Missense_Mutation_p.V43I|KNDC1_ENST00000530127.1_3'UTR			Q76NI1	VKIND_HUMAN	kinase non-catalytic C-lobe domain (KIND) containing 1	108	KIND 1. {ECO:0000255|PROSITE- ProRule:PRU00709}.				cerebellar granule cell differentiation (GO:0021707)|positive regulation of protein phosphorylation (GO:0001934)|regulation of dendrite morphogenesis (GO:0048814)|small GTPase mediated signal transduction (GO:0007264)	dendrite (GO:0030425)|guanyl-nucleotide exchange factor complex (GO:0032045)|neuronal cell body (GO:0043025)	protein serine/threonine kinase activity (GO:0004674)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)			NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	60		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)		GGGTGCCTTCGTTCCCCCCGA	0.592																																						ENST00000304613.3																			0				NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	60						c.(322-324)Gtt>Att		kinase non-catalytic C-lobe domain (KIND) containing 1							121	116	118					10																	134981778		2203	4300	6503	SO:0001583	missense	85442				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction			g.chr10:134981778G>A	AK074179	CCDS7674.1	10q26.3	2004-09-14	2004-04-07		ENSG00000171798	ENSG00000171798			29374	protein-coding gene	gene with protein product			"RasGEF domain family, member 2"	RASGEF2, C10orf23		11214970	Standard	NM_152643		Approved	KIAA1768, bB439H18.3, FLJ25027	uc001llz.1	Q76NI1	OTTHUMG00000019303	ENST00000304613.3:c.322G>A	10.37:g.134981778G>A	ENSP00000304437:p.Val108Ile					KNDC1_ENST00000530127.1_3'UTR|KNDC1_ENST00000368571.2_Missense_Mutation_p.V43I|KNDC1_ENST00000368572.2_Missense_Mutation_p.V108I	p.V108I			Q76NI1	VKIND_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)	3	343	+		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)	108			KIND 1.		B0QZC5|Q5T233|Q6ZNH8|Q8TEE5|Q96LV7|Q9C095	Missense_Mutation	SNP	ENST00000304613.3	37	c.322G>A	CCDS7674.1	.	.	.	.	.	.	.	.	.	.	G	15.70	2.911762	0.52439	.	.	ENSG00000171798	ENST00000304613;ENST00000368572;ENST00000368571	T;T;T	0.73363	-0.74;-0.74;1.82	4.14	4.14	0.48551	KIND (2);	0.000000	0.53938	D	0.000041	T	0.79185	0.4403	L	0.55481	1.735	0.45528	D	0.998483	D;D	0.56287	0.975;0.957	P;B	0.57204	0.815;0.429	T	0.79174	-0.1912	10	0.40728	T	0.16	-22.6484	14.3225	0.66496	0.0:0.0:1.0:0.0	.	43;108	Q76NI1-2;Q76NI1	.;VKIND_HUMAN	I	108;108;43	ENSP00000304437:V108I;ENSP00000357561:V108I;ENSP00000357560:V43I	ENSP00000304437:V108I	V	+	1	0	KNDC1	134831768	1.000000	0.71417	0.973000	0.42090	0.017000	0.09413	5.314000	0.65804	2.052000	0.61016	0.485000	0.47835	GTT		0.592	KNDC1-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000277044.3	NM_152643		9	147	0	0	0	1	0	9	147					A	134981778	G	A	134981778	3	1	286	1	0	0	0	0	1	0	0	0	8426	1145	40	1	332	1	KNDC1	10	134981778	Missense_Mutation	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	5071715	134981778	552969	362	13492											
SLC25A22	79751	broad.mit.edu	37	chr11	792315	792315	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgcactgaccatcacaggggTtgacggccacagcggcggca	9	5	14	13	3	1	2	1	2	0	0	1	2	1	2	2	5	2	3	2	5	0	1			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr11:792315T>C	ENST00000320230.5	-	8	1212	c.731A>G	c.(730-732)aAc>aGc	p.N244S	CEND1_ENST00000330106.4_5'Flank|CEND1_ENST00000524587.1_5'Flank|SLC25A22_ENST00000531214.1_Missense_Mutation_p.N244S	NM_001191061.1|NM_024698.5	NP_001177990.1|NP_078974.1	Q9H936	GHC1_HUMAN	solute carrier family 25 (mitochondrial carrier: glutamate), member 22	244					L-glutamate transport (GO:0015813)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	L-glutamate transmembrane transporter activity (GO:0005313)|symporter activity (GO:0015293)			endometrium(1)|kidney(1)|lung(2)|urinary_tract(1)	5		all_cancers(49;4.75e-06)|all_epithelial(84;0.00204)|Breast(177;0.00234)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;6.27e-26)|Epithelial(43;4.84e-25)|OV - Ovarian serous cystadenocarcinoma(40;2.72e-19)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		ATCACAGGGGTTGACGGCCAC	0.692																																					Colon(93;848 1468 3270 23355 49636)	ENST00000320230.5																			0				endometrium(1)|kidney(1)|lung(2)|urinary_tract(1)	5						c.(730-732)aAc>aGc		solute carrier family 25 (mitochondrial carrier: glutamate), member 22	L-Glutamic Acid(DB00142)						51	61	57					11																	792315		2203	4297	6500	SO:0001583	missense	79751					integral to membrane|mitochondrial inner membrane|nucleus	L-glutamate transmembrane transporter activity|protein binding|symporter activity	g.chr11:792315T>C	AJ428202	CCDS7715.1	11p15.5	2013-05-22			ENSG00000177542	ENSG00000177542		"Solute carriers"	19954	protein-coding gene	gene with protein product		609302				11897791	Standard	NM_024698		Approved	GC1, FLJ13044, NET44, EIEE3	uc001lrj.3	Q9H936	OTTHUMG00000133310	ENST00000320230.5:c.731A>G	11.37:g.792315T>C	ENSP00000322020:p.Asn244Ser					SLC25A22_ENST00000531214.1_Missense_Mutation_p.N244S	p.N244S	NM_001191061.1|NM_024698.5	NP_001177990.1|NP_078974.1	Q9H936	GHC1_HUMAN		all cancers(45;6.27e-26)|Epithelial(43;4.84e-25)|OV - Ovarian serous cystadenocarcinoma(40;2.72e-19)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	8	1212	-		all_cancers(49;4.75e-06)|all_epithelial(84;0.00204)|Breast(177;0.00234)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)	244					A8K366|C9J1H6|E9PJD3|E9PKB2|E9PL68|E9PN26|E9PNQ3|E9PP01|E9PR97|Q8TBU8	Missense_Mutation	SNP	ENST00000320230.5	37	c.731A>G	CCDS7715.1	.	.	.	.	.	.	.	.	.	.	T	8.208	0.799706	0.16397	.	.	ENSG00000177542	ENST00000320230;ENST00000531214	T;T	0.78246	-1.16;-1.16	3.67	3.67	0.42095	Mitochondrial carrier domain (2);	0.105878	0.64402	D	0.000008	T	0.68439	0.3001	L	0.33710	1.025	0.54753	D	0.999983	B	0.12630	0.006	B	0.24269	0.052	T	0.66775	-0.5838	10	0.46703	T	0.11	-32.8566	12.792	0.57539	0.0:0.0:0.0:1.0	.	244	Q9H936	GHC1_HUMAN	S	244	ENSP00000322020:N244S;ENSP00000437236:N244S	ENSP00000322020:N244S	N	-	2	0	SLC25A22	782315	1.000000	0.71417	0.619000	0.29118	0.006000	0.05464	4.750000	0.62162	1.680000	0.50976	0.416000	0.27883	AAC		0.692	SLC25A22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257107.2			9	122	0	0	0	1	0	9	122					C	792315	T	C	792315	3	2	286	1	0	0	0	0	1	0	0	0	14485	1725	60	4	252	4	SLC25A22	11	792315	Missense_Mutation	SNP	T	TCGA-J9-A52C-01A-11D-A26M-08		792315	134214201	363	13493											
MUC5B	727897	broad.mit.edu	37	chr11	1256378	1256378	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctgggcacctgcgtggcctaCggggatggccacttcatcac	6	8	13	14	2	2	0	2	0	0	0	2	1	2	1	3	5	2	1	3	5	1	2	rs546384509		TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr11:1256378C>T	ENST00000529681.1	+	22	2752	c.2694C>T	c.(2692-2694)taC>taT	p.Y898Y	MUC5B_ENST00000447027.1_Silent_p.Y901Y	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	898	VWFC 1. {ECO:0000255|PROSITE- ProRule:PRU00220}.|VWFD 3. {ECO:0000255|PROSITE- ProRule:PRU00580}.				cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)		p.Y901Y(1)		cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		GCGTGGCCTACGGGGATGGCC	0.652													c|||	1	0.000199681	0	0	5008	,	,		14475	0		0	False		,,,				2504	0.001					ENST00000447027.1																			1	Substitution - coding silent(1)	p.Y901Y(1)	large_intestine(1)	cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137						c.(2701-2703)taC>taT		mucin 5B, oligomeric mucus/gel-forming							56	65	62					11																	1256378		2110	4215	6325	SO:0001819	synonymous_variant	727897				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	g.chr11:1256378C>T	U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"Mucins"	7516	protein-coding gene	gene with protein product		600770	"mucin 5, subtype B, tracheobronchial"	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.2694C>T	11.37:g.1256378C>T						MUC5B_ENST00000529681.1_Silent_p.Y898Y	p.Y901Y			Q9HC84	MUC5B_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)	22	2761	+		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	898			VWFC 1.|VWFD 3.		O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Silent	SNP	ENST00000529681.1	37	c.2703C>T	CCDS44515.2																																																																																				0.652	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093		8	42	0	0	0	1	0	8	42					T	1256378	C	T	1256378	2	4	286	1	0	0	0	0	0	0	0	1	9979	547	19	1		1	MUC5B	11	1256378	Silent	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	464063	1256378	133750138	364	13494											
OR5P2	120065	broad.mit.edu	37	chr11	7818171	7818171	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggcagccagaaggacgcattCgactgttgcaaagaaagccg	13	5	13	10	3	0	2	0	0	0	2	1	4	0	3	2	2	3	4	2	2	3	2	rs569926953|rs147652902	byFrequency	TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr11:7818171C>T	ENST00000329434.2	-	1	349	c.319G>A	c.(319-321)Gaa>Aaa	p.E107K	RP11-35J10.5_ENST00000527565.1_lincRNA	NM_153444.1	NP_703145.1	Q8WZ92	OR5P2_HUMAN	olfactory receptor, family 5, subfamily P, member 2	107						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.E107K(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)	22				Epithelial(150;8.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		AGGACGCATTCGACTGTTGCA	0.493																																						ENST00000329434.2																			1	Substitution - Missense(1)	p.E107K(1)	ovary(1)	central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)	22						c.(319-321)Gaa>Aaa		olfactory receptor, family 5, subfamily P, member 2		C	LYS/GLU	2,4206		0,2,2102	97	113	108		319	5.5	0.8	11	dbSNP_134	108	0,8584		0,0,4292	no	missense	OR5P2	NM_153444.1	56	0,2,6394	TT,TC,CC		0.0,0.0475,0.0156	probably-damaging	107/323	7818171	2,12790	2104	4292	6396	SO:0001583	missense	120065				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:7818171C>T	AF173006	CCDS7782.1	11p15.4	2012-08-09			ENSG00000183303	ENSG00000183303		"GPCR / Class A : Olfactory receptors"	14783	protein-coding gene	gene with protein product							Standard	NM_153444		Approved	JCG3	uc001mfp.1	Q8WZ92	OTTHUMG00000165668	ENST00000329434.2:c.319G>A	11.37:g.7818171C>T	ENSP00000331823:p.Glu107Lys					RP11-35J10.5_ENST00000527565.1_lincRNA	p.E107K	NM_153444.1	NP_703145.1	Q8WZ92	OR5P2_HUMAN		Epithelial(150;8.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)	1	349	-			107					Q3MIS8	Missense_Mutation	SNP	ENST00000329434.2	37	c.319G>A	CCDS7782.1	.	.	.	.	.	.	.	.	.	.	C	15.07	2.724582	0.48833	4.75E-4	0.0	ENSG00000183303	ENST00000329434	T	0.00414	7.52	5.5	5.5	0.81552	GPCR, rhodopsin-like superfamily (1);	0.087192	0.49916	D	0.000131	T	0.01835	0.0058	M	0.92219	3.285	0.36026	D	0.8391	D	0.76494	0.999	D	0.73380	0.98	T	0.33085	-0.9882	10	0.87932	D	0	-34.5014	16.9428	0.86222	0.0:1.0:0.0:0.0	.	107	Q8WZ92	OR5P2_HUMAN	K	107	ENSP00000331823:E107K	ENSP00000331823:E107K	E	-	1	0	OR5P2	7774747	0.025000	0.19082	0.822000	0.32727	0.009000	0.06853	1.607000	0.36836	2.868000	0.98415	0.555000	0.69702	GAA		0.493	OR5P2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385696.1	NM_153444		8	87	0	0	0	1	0	8	87					T	7818171	C	T	7818171	3	4	286	1	0	0	0	0	1	0	0	0	11178	893	31	2	653	2	OR5P2	11	7818171	Missense_Mutation	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	6561793	7818171	127188345	365	13495											
SWAP70	23075	broad.mit.edu	37	chr11	9746375	9746375	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaggcatggaccggcagacTgtgtctatggcaattaatga	13	9	12	7	1	1	2	0	1	1	1	1	3	1	3	1	4	0	3	1	4	4	2			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr11:9746375T>G	ENST00000318950.6	+	4	688	c.585T>G	c.(583-585)acT>acG	p.T195T	SWAP70_ENST00000447399.2_Silent_p.T137T	NM_015055.2	NP_055870.2	Q9UH65	SWP70_HUMAN	SWAP switching B-cell complex 70kDa subunit	195					isotype switching (GO:0045190)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|DNA binding (GO:0003677)			NS(1)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|ovary(2)|pancreas(1)	11				all cancers(16;1.21e-10)|Epithelial(150;2.81e-09)|BRCA - Breast invasive adenocarcinoma(625;0.00649)		ACCGGCAGACTGTGTCTATGG	0.333																																						ENST00000318950.6																			0				NS(1)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|ovary(2)|pancreas(1)	11						c.(583-585)acT>acG		SWAP switching B-cell complex 70kDa subunit							112	111	111					11																	9746375		2201	4294	6495	SO:0001819	synonymous_variant	23075					cytoplasm|lamellipodium|nucleus|plasma membrane	calcium ion binding|DNA binding	g.chr11:9746375T>G	AB014540	CCDS31426.1, CCDS73257.1	11p15	2013-01-10			ENSG00000133789	ENSG00000133789		"Pleckstrin homology (PH) domain containing", "EF-hand domain containing"	17070	protein-coding gene	gene with protein product		604762				9734811, 10681448	Standard	XM_005252829		Approved	KIAA0640, SWAP-70	uc001mhw.3	Q9UH65	OTTHUMG00000165865	ENST00000318950.6:c.585T>G	11.37:g.9746375T>G						SWAP70_ENST00000447399.2_Silent_p.T137T	p.T195T	NM_015055.2	NP_055870.2	Q9UH65	SWP70_HUMAN		all cancers(16;1.21e-10)|Epithelial(150;2.81e-09)|BRCA - Breast invasive adenocarcinoma(625;0.00649)	4	688	+			195					D3DQV1|O75135|Q7LCY6|Q9P061|Q9P0Z8	Silent	SNP	ENST00000318950.6	37	c.585T>G	CCDS31426.1																																																																																				0.333	SWAP70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386766.2	NM_015055		16	52	0	0	0	1	0	16	52					G	9746375	T	G	9746375	2	3	286	1	0	0	0	0	0	0	0	1	15422	1567	55	5		5	SWAP70	11	9746375	Silent	SNP	T	TCGA-J9-A52C-01A-11D-A26M-08	1928204	9746375	125260141	366	13496											
COPB1	1315	broad.mit.edu	37	chr11	14491012	14491012	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccttgaggcacagggaaattCgatccacatcatcatcagta	13	9	8	11	1	3	1	3	1	0	0	5	3	4	2	2	2	0	2	2	2	2	3			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr11:14491012C>T	ENST00000249923.3	-	15	2135	c.1835G>A	c.(1834-1836)cGa>cAa	p.R612Q	COPB1_ENST00000439561.2_Missense_Mutation_p.R612Q	NM_016451.4	NP_057535.1	P53618	COPB_HUMAN	coatomer protein complex, subunit beta 1	612					COPI coating of Golgi vesicle (GO:0048205)|intra-Golgi vesicle-mediated transport (GO:0006891)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|viral process (GO:0016032)	COPI vesicle coat (GO:0030126)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi-associated vesicle (GO:0005798)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	36						CAGGGAAATTCGATCCACATC	0.408																																						ENST00000249923.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	36						c.(1834-1836)cGa>cAa		coatomer protein complex, subunit beta 1							143	132	136					11																	14491012		2200	4294	6494	SO:0001583	missense	1315				COPI coating of Golgi vesicle|interspecies interaction between organisms|intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol|ER-Golgi intermediate compartment|plasma membrane	protein binding|structural molecule activity	g.chr11:14491012C>T	BC037280	CCDS7815.1	11p15.2	2011-05-20	2006-06-30	2006-06-30	ENSG00000129083	ENSG00000129083			2231	protein-coding gene	gene with protein product		600959	"coatomer protein complex, subunit beta"	COPB		7982906	Standard	NM_016451		Approved		uc001mlg.2	P53618	OTTHUMG00000165824	ENST00000249923.3:c.1835G>A	11.37:g.14491012C>T	ENSP00000249923:p.Arg612Gln					COPB1_ENST00000439561.2_Missense_Mutation_p.R612Q	p.R612Q	NM_016451.4	NP_057535.1	P53618	COPB_HUMAN			15	2135	-			612					D3DQX0|Q6GTT7|Q9NTK2|Q9UNW7	Missense_Mutation	SNP	ENST00000249923.3	37	c.1835G>A	CCDS7815.1	.	.	.	.	.	.	.	.	.	.	C	37	6.000311	0.97189	.	.	ENSG00000129083	ENST00000249923;ENST00000439561	T;T	0.16743	2.32;2.32	5.91	5.91	0.95273	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.47911	0.1471	M	0.84773	2.715	0.80722	D	1	D	0.69078	0.997	D	0.64144	0.922	T	0.48758	-0.9007	10	0.62326	D	0.03	-5.6557	20.2983	0.98569	0.0:1.0:0.0:0.0	.	612	P53618	COPB_HUMAN	Q	612	ENSP00000249923:R612Q;ENSP00000397873:R612Q	ENSP00000249923:R612Q	R	-	2	0	COPB1	14447588	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.535000	0.82014	2.802000	0.96397	0.655000	0.94253	CGA		0.408	COPB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386410.1	NM_016451		10	45	0	0	0	1	0	10	45					T	14491012	C	T	14491012	3	4	286	1	0	0	0	0	1	0	0	0	3728	884	31	2	1058	2	COPB1	11	14491012	Missense_Mutation	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	4744637	14491012	120515504	367	13497											
ABCC8	6833	broad.mit.edu	37	chr11	17438497	17438497	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctggggtcctctcctatctcGctgtcaggaaggctgctggg	4	11	14	12	1	3	0	1	0	2	0	6	1	4	1	2	5	1	3	2	5	2	1	rs200708414	byFrequency	TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr11:17438497G>A	ENST00000389817.3	-	17	2303	c.2235C>T	c.(2233-2235)agC>agT	p.S745S	ABCC8_ENST00000302539.4_Silent_p.S746S			Q09428	ABCC8_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 8	745	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				carbohydrate metabolic process (GO:0005975)|energy reserve metabolic process (GO:0006112)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|ion channel binding (GO:0044325)|potassium ion transmembrane transporter activity (GO:0015079)|sulfonylurea receptor activity (GO:0008281)			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Chlorpropamide(DB00672)|Gliclazide(DB01120)|Glimepiride(DB00222)|Glipizide(DB01067)|Gliquidone(DB01251)|Glyburide(DB01016)|Glycodiazine(DB01382)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)|Tolbutamide(DB01124)	CTCCTATCTCGCTGTCAGGAA	0.567													G|||	2	0.000399361	8e-04	0	5008	,	,		17211	0.001		0	False		,,,				2504	0					ENST00000302539.4																			0				NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						c.(2236-2238)agC>agT		ATP-binding cassette, sub-family C (CFTR/MRP), member 8	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)						112	84	93					11																	17438497		2200	4293	6493	SO:0001819	synonymous_variant	6833				carbohydrate metabolic process|energy reserve metabolic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity	g.chr11:17438497G>A	L78207	CCDS31437.1, CCDS73264.1	11p15.1	2014-09-17			ENSG00000006071	ENSG00000006071		"ATP binding cassette transporters / subfamily C"	59	protein-coding gene	gene with protein product	"sulfonylurea receptor (hyperinsulinemia)"	600509		SUR, HRINS		7920639, 7716548	Standard	NM_000352		Approved	HI, PHHI, SUR1, MRP8, ABC36, HHF1, TNDM2	uc001mnc.3	Q09428	OTTHUMG00000166316	ENST00000389817.3:c.2235C>T	11.37:g.17438497G>A						ABCC8_ENST00000389817.3_Silent_p.S745S	p.S746S	NM_000352.3	NP_000343.2	Q09428	ABCC8_HUMAN		READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	17	2363	-			745			ABC transporter 1.		A6NMX8|E3UYX6|O75948|Q16583	Silent	SNP	ENST00000389817.3	37	c.2238C>T	CCDS31437.1																																																																																				0.567	ABCC8-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000389093.1	NM_000352		3	21	0	0	0	1	0	3	21					A	17438497	G	A	17438497	2	1	286	1	0	0	0	0	0	0	0	1	58	1078	38	1		1	ABCC8	11	17438497	Silent	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	2947485	17438497	117568019	368	13498											
C11orf41	25758	broad.mit.edu	37	chr11	33596305	33596305	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cagcggagctgacttactatAccctgtacaacgggaagcct	11	8	10	12	2	0	1	0	1	0	0	0	3	0	3	2	2	7	2	2	2	6	4			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr11:33596305A>G	ENST00000321505.4	+	9	3577	c.3397A>G	c.(3397-3399)Acc>Gcc	p.T1133A	KIAA1549L_ENST00000389726.3_Missense_Mutation_p.T1139A|KIAA1549L_ENST00000265654.5_Missense_Mutation_p.T1139A			Q6ZVL6	K154L_HUMAN	KIAA1549-like	1133						integral component of membrane (GO:0016021)											GACTTACTATACCCTGTACAA	0.542																																						ENST00000321505.4																			0											c.(3397-3399)Acc>Gcc		KIAA1549-like							102	106	105					11																	33596305		2011	4170	6181	SO:0001583	missense	25758							g.chr11:33596305A>G	U10991	CCDS44565.1, CCDS44565.2	11p13	2012-08-09	2012-08-09	2012-08-09	ENSG00000110427	ENSG00000110427			24836	protein-coding gene	gene with protein product		612297	"chromosome 11 open reading frame 69", "chromosome 11 open reading frame 41"	C11orf69, C11orf41			Standard	NM_012194		Approved	G2, MGC34830	uc021qfs.1	Q6ZVL6	OTTHUMG00000150410	ENST00000321505.4:c.3397A>G	11.37:g.33596305A>G	ENSP00000315295:p.Thr1133Ala					KIAA1549L_ENST00000265654.5_Missense_Mutation_p.T1139A|KIAA1549L_ENST00000389726.3_Missense_Mutation_p.T1139A	p.T1133A							9	3577	+								B0QYU0	Missense_Mutation	SNP	ENST00000321505.4	37	c.3397A>G	CCDS44565.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	21.3|21.3	4.134454|4.134454	0.77662|0.77662	.|.	.|.	ENSG00000110427|ENSG00000110427	ENST00000526400|ENST00000321505;ENST00000389726;ENST00000265654;ENST00000536568	.|.	.|.	.|.	5.45|5.45	5.45|5.45	0.79879|0.79879	.|.	.|0.113126	.|0.64402	.|D	.|0.000005	T|T	0.53254|0.53254	0.1785|0.1785	L|L	0.27053|0.27053	0.805|0.805	0.33989|0.33989	D|D	0.648913|0.648913	.|P;D	.|0.89917	.|0.924;1.0	.|P;D	.|0.87578	.|0.807;0.998	T|T	0.65615|0.65615	-0.6125|-0.6125	5|9	.|0.54805	.|T	.|0.06	-24.4943|-24.4943	9.9511|9.9511	0.41638|0.41638	0.9243:0.0:0.0757:0.0|0.9243:0.0:0.0757:0.0	.|.	.|1139;1139	.|E9PAT2;Q6ZVL6-2	.|.;.	M|A	530|1133;1139;1139;972	.|.	.|ENSP00000265654:T1139A	I|T	+|+	3|1	3|0	C11orf41|C11orf41	33552881|33552881	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.982000|0.982000	0.71751|0.71751	6.900000|6.900000	0.75687|0.75687	2.078000|2.078000	0.62432|0.62432	0.533000|0.533000	0.62120|0.62120	ATA|ACC		0.542	KIAA1549L-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317998.1	NM_012194		10	64	0	0	0	1	0	10	64					G	33596305	A	G	33596305	3	3	286	1	0	0	0	0	1	0	0	0	1640	391	14	4	3449	4	C11orf41	11	33596305	Missense_Mutation	SNP	A	TCGA-J9-A52C-01A-11D-A26M-08	16157808	33596305	101410211	369	13499											
LDLRAD3	143458	broad.mit.edu	37	chr11	36057737	36057737	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcaatggacggtgcatccCgggcgcctggcagtgtgacg	7	6	16	12	4	0	1	0	1	0	0	1	2	1	2	2	4	2	3	2	4	1	0			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr11:36057737C>T	ENST00000315571.5	+	2	152	c.131C>T	c.(130-132)cCg>cTg	p.P44L	LDLRAD3_ENST00000528989.1_Intron|LDLRAD3_ENST00000524419.1_Intron	NM_174902.2	NP_777562.1	Q86YD5	LRAD3_HUMAN	low density lipoprotein receptor class A domain containing 3	44	LDL-receptor class A 1. {ECO:0000255|PROSITE-ProRule:PRU00124}.				receptor-mediated endocytosis (GO:0006898)|regulation of protein processing (GO:0070613)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	beta-amyloid binding (GO:0001540)			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(14)|prostate(7)|skin(1)	28	all_lung(20;0.089)|Lung NSC(22;0.175)|all_epithelial(35;0.177)	all_hematologic(20;0.124)				CGGTGCATCCCGGGCGCCTGG	0.612																																						ENST00000315571.5																			0				central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(14)|prostate(7)|skin(1)	28						c.(130-132)cCg>cTg		low density lipoprotein receptor class A domain containing 3							101	93	96					11																	36057737		2202	4298	6500	SO:0001583	missense	143458					integral to membrane	receptor activity	g.chr11:36057737C>T	AK075546	CCDS31462.1	11p13	2014-06-05			ENSG00000179241	ENSG00000179241			27046	protein-coding gene	gene with protein product						21795536	Standard	NM_174902		Approved	LRAD3	uc001mwk.1	Q86YD5	OTTHUMG00000166313	ENST00000315571.5:c.131C>T	11.37:g.36057737C>T	ENSP00000318607:p.Pro44Leu					LDLRAD3_ENST00000524419.1_Intron|LDLRAD3_ENST00000528989.1_Intron	p.P44L	NM_174902.2	NP_777562.1	Q86YD5	LRAD3_HUMAN			2	152	+	all_lung(20;0.089)|Lung NSC(22;0.175)|all_epithelial(35;0.177)	all_hematologic(20;0.124)	44			LDL-receptor class A 1.		B7Z1U3|B9EG81|Q8NBJ0	Missense_Mutation	SNP	ENST00000315571.5	37	c.131C>T	CCDS31462.1	.	.	.	.	.	.	.	.	.	.	C	29.7	5.029873	0.93575	.	.	ENSG00000179241	ENST00000545142;ENST00000315571	D	0.96041	-3.89	5.43	5.43	0.79202	Low-density lipoprotein (LDL) receptor class A, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.97037	0.9032	L	0.55213	1.73	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.97585	1.0113	10	0.72032	D	0.01	.	18.2104	0.89868	0.0:1.0:0.0:0.0	.	44	Q86YD5	LRAD3_HUMAN	L	44	ENSP00000318607:P44L	ENSP00000318607:P44L	P	+	2	0	LDLRAD3	36014313	1.000000	0.71417	0.995000	0.50966	0.994000	0.84299	7.204000	0.77872	2.537000	0.85549	0.655000	0.94253	CCG		0.612	LDLRAD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389085.1	NM_174902		6	97	0	0	0	1	0	6	97					T	36057737	C	T	36057737	3	4	286	1	0	0	0	0	1	0	0	0	8707	652	23	2	137	2	LDLRAD3	11	36057737	Missense_Mutation	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	2461432	36057737	98948779	370	13500											
LRP4	4038	broad.mit.edu	37	chr11	46917787	46917787	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgctgtgggctttcgtcgCtgttgtcaccacagtcgttg	3	15	12	11	3	2	0	1	0	1	0	5	0	2	0	1	1	1	5	1	1	0	3			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr11:46917787C>A	ENST00000378623.1	-	9	1264	c.1022G>T	c.(1021-1023)aGc>aTc	p.S341I		NM_002334.3	NP_002325.2	O75096	LRP4_HUMAN	low density lipoprotein receptor-related protein 4	341	LDL-receptor class A 8. {ECO:0000255|PROSITE-ProRule:PRU00124}.				dendrite morphogenesis (GO:0048813)|dorsal/ventral pattern formation (GO:0009953)|embryonic digit morphogenesis (GO:0042733)|endocytosis (GO:0006897)|extracellular matrix organization (GO:0030198)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|limb development (GO:0060173)|negative regulation of axonogenesis (GO:0050771)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of ossification (GO:0030279)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of presynaptic membrane organization (GO:1901631)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|protein heterotetramerization (GO:0051290)|proximal/distal pattern formation (GO:0009954)|regulation of protein phosphorylation (GO:0001932)|skeletal muscle acetylcholine-gated channel clustering (GO:0071340)|synapse organization (GO:0050808)|synaptic growth at neuromuscular junction (GO:0051124)|Wnt signaling pathway (GO:0016055)	cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|postsynaptic density (GO:0014069)|synaptic membrane (GO:0097060)	calcium ion binding (GO:0005509)|receptor tyrosine kinase binding (GO:0030971)|scaffold protein binding (GO:0097110)			breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70				Lung(87;0.159)		GCTTTCGTCGCTGTTGTCACC	0.597																																						ENST00000378623.1																			0				breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70						c.(1021-1023)aGc>aTc		low density lipoprotein receptor-related protein 4							92	89	90					11																	46917787		2201	4299	6500	SO:0001583	missense	4038				endocytosis|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to membrane	calcium ion binding|receptor activity	g.chr11:46917787C>A	AB011540	CCDS31478.1	11p11.2	2013-05-29			ENSG00000134569	ENSG00000134569		"Low density lipoprotein receptors"	6696	protein-coding gene	gene with protein product		604270				9693030	Standard	NM_002334		Approved	MEGF7, CLSS, LRP-4, SOST2	uc001ndn.4	O75096	OTTHUMG00000166700	ENST00000378623.1:c.1022G>T	11.37:g.46917787C>A	ENSP00000367888:p.Ser341Ile						p.S341I	NM_002334.3	NP_002325.2	O75096	LRP4_HUMAN		Lung(87;0.159)	9	1264	-			341			LDL-receptor class A 8.		B2RN39|Q4AC85|Q5KTZ5	Missense_Mutation	SNP	ENST00000378623.1	37	c.1022G>T	CCDS31478.1	.	.	.	.	.	.	.	.	.	.	C	19.71	3.878623	0.72294	.	.	ENSG00000134569	ENST00000378623	D	0.97850	-4.57	5.96	5.96	0.96718	Low-density lipoprotein (LDL) receptor class A, conserved site (1);Growth factor, receptor (1);	0.049992	0.85682	D	0.000000	D	0.98012	0.9345	M	0.91300	3.195	0.58432	D	0.999999	P	0.46784	0.884	B	0.41619	0.361	D	0.99113	1.0847	10	0.87932	D	0	.	20.4123	0.99019	0.0:1.0:0.0:0.0	.	341	O75096	LRP4_HUMAN	I	341	ENSP00000367888:S341I	ENSP00000367888:S341I	S	-	2	0	LRP4	46874363	1.000000	0.71417	0.993000	0.49108	0.958000	0.62258	6.143000	0.71756	2.824000	0.97209	0.655000	0.94253	AGC		0.597	LRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391133.1	NM_002334		17	71	1	0	3.99206e-14	1	4.11663e-14	17	71					A	46917787	C	A	46917787	3	1	286	1	0	0	0	0	1	0	0	0	8959	797	28	5	4815	5	LRP4	11	46917787	Missense_Mutation	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	10860050	46917787	88088729	371	13501											
OR4A16	81327	broad.mit.edu	37	chr11	55111453	55111453	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atttttatgtatgttagaccCgtttccaactttccctttga	8	19	5	9	1	0	2	0	1	0	1	2	2	2	2	3	0	1	3	3	0	4	8	rs79231280	byFrequency	TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr11:55111453C>A	ENST00000314721.2	+	1	827	c.777C>A	c.(775-777)ccC>ccA	p.P259P		NM_001005274.1	NP_001005274.1	Q8NH70	O4A16_HUMAN	olfactory receptor, family 4, subfamily A, member 16	259						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	51						ATGTTAGACCCGTTTCCAACT	0.388																																						ENST00000314721.2																			0				NS(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	51						c.(775-777)ccC>ccA		olfactory receptor, family 4, subfamily A, member 16							152	142	145					11																	55111453		2201	4296	6497	SO:0001819	synonymous_variant	81327				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55111453C>A	AB065519	CCDS31499.1	11q11	2012-08-09			ENSG00000181961	ENSG00000181961		"GPCR / Class A : Olfactory receptors"	15153	protein-coding gene	gene with protein product							Standard	NM_001005274		Approved	OR4A16Q	uc010rie.2	Q8NH70	OTTHUMG00000166710	ENST00000314721.2:c.777C>A	11.37:g.55111453C>A							p.P259P	NM_001005274.1	NP_001005274.1	Q8NH70	O4A16_HUMAN			1	827	+			259					Q6IFL3	Silent	SNP	ENST00000314721.2	37	c.777C>A	CCDS31499.1																																																																																				0.388	OR4A16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391160.1	NM_001005274		5	26	1	0	0.000602214	1	0.000607226	5	26					A	55111453	C	A	55111453	2	1	286	1	0	0	0	0	0	0	0	1	11041	639	23	5		5	OR4A16	11	55111453	Silent	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	8193666	55111453	79895063	372	13502											
OR9G1	390174	broad.mit.edu	37	chr11	56468308	56468308	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctggtagcagtctcatatTgtggtggctttattaactct	7	17	10	7	0	2	0	1	0	2	0	3	0	2	0	0	3	3	4	0	3	4	6			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr11:56468308T>C	ENST00000312153.1	+	1	445	c.445T>C	c.(445-447)Tgt>Cgt	p.C149R		NM_001005213.1	NP_001005213.1	Q8NH87	OR9G1_HUMAN	olfactory receptor, family 9, subfamily G, member 1	149						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|kidney(1)|lung(25)|stomach(2)|upper_aerodigestive_tract(1)	31						AGTCTCATATTGTGGTGGCTT	0.453																																						ENST00000312153.1																			0				breast(2)|kidney(1)|lung(25)|stomach(2)|upper_aerodigestive_tract(1)	31						c.(445-447)Tgt>Cgt		olfactory receptor, family 9, subfamily G, member 1							205	191	196					11																	56468308		2201	4296	6497	SO:0001583	missense	390174							g.chr11:56468308T>C	AB065500	CCDS31536.1	11q11	2012-08-09			ENSG00000174914	ENSG00000174914		"GPCR / Class A : Olfactory receptors"	15319	protein-coding gene	gene with protein product				OR9G5			Standard	NM_001005213		Approved			Q8NH87	OTTHUMG00000167112	ENST00000312153.1:c.445T>C	11.37:g.56468308T>C	ENSP00000309012:p.Cys149Arg						p.C149R	NM_001005213.1	NP_001005213.1					1	445	+								Q6IEU9|Q8NGQ0	Missense_Mutation	SNP	ENST00000312153.1	37	c.445T>C	CCDS31536.1	.	.	.	.	.	.	.	.	.	.	T	1.091	-0.663882	0.03428	.	.	ENSG00000174914	ENST00000312153	T	0.37058	1.22	4.52	-0.00713	0.14010	GPCR, rhodopsin-like superfamily (1);	1.526730	0.03953	N	0.288791	T	0.24774	0.0601	L	0.27053	0.805	0.09310	N	1	B	0.09022	0.002	B	0.15484	0.013	T	0.32134	-0.9918	10	0.87932	D	0	-4.6341	1.8521	0.03171	0.3421:0.3743:0.1124:0.1713	.	149	Q8NH87	OR9G1_HUMAN	R	149	ENSP00000309012:C149R	ENSP00000309012:C149R	C	+	1	0	OR9G1	56224884	0.000000	0.05858	0.049000	0.19019	0.024000	0.10985	-3.634000	0.00408	0.187000	0.20147	-0.495000	0.04643	TGT		0.453	OR9G1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393253.1	NM_001005213		9	116	0	0	0	1	0	9	116					C	56468308	T	C	56468308	3	2	286	1	0	0	0	0	1	0	0	0	11250	1812	63	4	447	4	OR9G1	11	56468308	Missense_Mutation	SNP	T	TCGA-J9-A52C-01A-11D-A26M-08	1356855	56468308	78538208	373	13503											
RTN4RL2	349667	broad.mit.edu	37	chr11	57243663	57243663	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttcgcggacctggccaaccTgagccacctcttcctccacg	6	8	9	18	3	1	1	0	1	1	0	4	2	3	2	7	2	2	1	7	2	1	2			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr11:57243663T>C	ENST00000335099.3	+	3	859	c.542T>C	c.(541-543)cTg>cCg	p.L181P	RP11-624G17.3_ENST00000528885.1_RNA	NM_178570.1	NP_848665.1			reticulon 4 receptor-like 2											NS(1)|endometrium(1)|large_intestine(2)|lung(2)	6						CTGGCCAACCTGAGCCACCTC	0.667																																						ENST00000335099.3																			0				NS(1)|endometrium(1)|large_intestine(2)|lung(2)	6						c.(541-543)cTg>cCg		reticulon 4 receptor-like 2							52	54	53					11																	57243663		2192	4273	6465	SO:0001583	missense	349667				axon regeneration	anchored to plasma membrane	receptor activity	g.chr11:57243663T>C	BK001302	CCDS7957.1	11q12.1	2008-02-05			ENSG00000186907	ENSG00000186907			23053	protein-coding gene	gene with protein product		610462					Standard	NM_178570		Approved	NgR2, NGRH1	uc010rjt.2	Q86UN3	OTTHUMG00000167028	ENST00000335099.3:c.542T>C	11.37:g.57243663T>C	ENSP00000335397:p.Leu181Pro						p.L181P	NM_178570.1	NP_848665.1	Q86UN3	R4RL2_HUMAN			3	859	+			181						Missense_Mutation	SNP	ENST00000335099.3	37	c.542T>C	CCDS7957.1	.	.	.	.	.	.	.	.	.	.	T	21.6	4.170726	0.78452	.	.	ENSG00000186907	ENST00000335099	T	0.09911	2.93	4.52	4.52	0.55395	.	0.000000	0.32736	N	0.005718	T	0.51601	0.1684	H	0.99104	4.43	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.72786	-0.4188	10	0.87932	D	0	.	13.4947	0.61419	0.0:0.0:0.0:1.0	.	181	Q86UN3	R4RL2_HUMAN	P	181	ENSP00000335397:L181P	ENSP00000335397:L181P	L	+	2	0	RTN4RL2	57000239	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.931000	0.87625	1.651000	0.50673	0.459000	0.35465	CTG		0.667	RTN4RL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392537.1	NM_178570		31	115	0	0	0	1	0	31	115					C	57243663	T	C	57243663	3	2	286	1	0	0	0	0	1	0	0	0	13732	1580	55	4	552	4	RTN4RL2	11	57243663	Missense_Mutation	SNP	T	TCGA-J9-A52C-01A-11D-A26M-08	775355	57243663	77762853	374	13504											
CNTF	1270	broad.mit.edu	37	chr11	58391921	58391921	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	taaggtccatccatgaccttCgtttcatttcttctcatcag	8	16	5	12	1	4	1	3	1	2	0	8	1	6	1	3	1	0	1	3	1	1	5			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr11:58391921C>T	ENST00000361987.4	+	2	609	c.529C>T	c.(529-531)Cgt>Tgt	p.R177C	ZFP91-CNTF_ENST00000389919.4_3'UTR	NM_000614.3	NP_000605.1	P26441	CNTF_HUMAN	ciliary neurotrophic factor	177					ciliary neurotrophic factor-mediated signaling pathway (GO:0070120)|growth (GO:0040007)|muscle organ morphogenesis (GO:0048644)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of photoreceptor cell differentiation (GO:0046533)|neuron development (GO:0048666)|positive regulation of cell proliferation (GO:0008284)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|regulation of retinal cell programmed cell death (GO:0046668)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	ciliary neurotrophic factor receptor binding (GO:0005127)|growth factor activity (GO:0008083)|interleukin-6 receptor binding (GO:0005138)			NS(1)|breast(1)|kidney(2)|large_intestine(4)|lung(1)|ovary(1)	10		Breast(21;0.00725)|all_epithelial(135;0.0101)|all_lung(304;0.24)				CCATGACCTTCGTTTCATTTC	0.463																																						ENST00000361987.4																			0				NS(1)|breast(1)|kidney(2)|large_intestine(4)|lung(1)|ovary(1)	10						c.(529-531)Cgt>Tgt		ciliary neurotrophic factor							101	104	103					11																	58391921		2201	4295	6496	SO:0001583	missense	1270				ciliary neurotrophic factor-mediated signaling pathway|growth|negative regulation of neuron apoptosis|positive regulation of tyrosine phosphorylation of Stat3 protein		ciliary neurotrophic factor receptor binding|growth factor activity|interleukin-6 receptor binding	g.chr11:58391921C>T	BC068030	CCDS31554.1	11q12	2011-07-21			ENSG00000242689	ENSG00000242689			2169	protein-coding gene	gene with protein product		118945				1840538, 1714745	Standard	NM_000614		Approved	HCNTF	uc001nna.4	P26441	OTTHUMG00000137476	ENST00000361987.4:c.529C>T	11.37:g.58391921C>T	ENSP00000355370:p.Arg177Cys					ZFP91-CNTF_ENST00000389919.4_3'UTR	p.R177C	NM_000614.3	NP_000605.1	P26441	CNTF_HUMAN			2	609	+		Breast(21;0.00725)|all_epithelial(135;0.0101)|all_lung(304;0.24)	177					B2RAB2	Missense_Mutation	SNP	ENST00000361987.4	37	c.529C>T	CCDS31554.1	.	.	.	.	.	.	.	.	.	.	C	19.78	3.890423	0.72524	.	.	ENSG00000242689	ENST00000361987	T	0.46819	0.86	5.48	4.56	0.56223	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	.	.	.	.	T	0.66257	0.2771	M	0.69823	2.125	0.49051	D	0.999749	D	0.89917	1.0	D	0.79784	0.993	T	0.69796	-0.5048	9	0.72032	D	0.01	-9.2467	12.8889	0.58058	0.1633:0.8367:0.0:0.0	.	177	P26441	CNTF_HUMAN	C	177	ENSP00000355370:R177C	ENSP00000447778:R177C	R	+	1	0	CNTF	58148497	0.787000	0.28750	0.832000	0.32986	0.990000	0.78478	2.307000	0.43682	1.298000	0.44778	0.650000	0.86243	CGT		0.463	CNTF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268673.1	NM_000614		10	49	0	0	0	1	0	10	49					T	58391921	C	T	58391921	3	4	286	1	0	0	0	0	1	0	0	0	3637	884	31	2	535	2	CNTF	11	58391921	Missense_Mutation	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	1148258	58391921	76614595	375	13505											
GLYATL1	92292	broad.mit.edu	37	chr11	58722740	58722740	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agagcactcctcttggttacGgaagatattctgaagctcaa	12	11	9	9	1	3	3	1	1	2	2	4	4	4	4	1	2	3	3	1	2	5	4	rs370872373		TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr11:58722740G>A	ENST00000317391.4	+	7	745	c.405G>A	c.(403-405)acG>acA	p.T135T	RP11-142C4.6_ENST00000533954.1_RNA|RP11-142C4.6_ENST00000525714.1_RNA|GLYATL1_ENST00000300079.5_Silent_p.T166T	NM_001220494.1	NP_001207423.1	Q969I3	GLYL1_HUMAN	glycine-N-acyltransferase-like 1	135						mitochondrion (GO:0005739)	glutamine N-acyltransferase activity (GO:0047946)|glycine N-acyltransferase activity (GO:0047961)			NS(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|skin(4)|urinary_tract(1)	34					Glycine(DB00145)	TCTTGGTTACGGAAGATATTC	0.443																																						ENST00000300079.5																			0				NS(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|skin(4)|urinary_tract(1)	34						c.(496-498)acG>acA		glycine-N-acyltransferase-like 1	Glycine(DB00145)	G	,,	1,4401		0,1,2200	91	88	89		405,405,498	-3.5	0	11		89	0,8590		0,0,4295	no	coding-synonymous,coding-synonymous,coding-synonymous	GLYATL1	NM_001220494.1,NM_001220496.1,NM_080661.3	,,	0,1,6495	AA,AG,GG		0.0,0.0227,0.0077	,,	135/303,135/303,166/334	58722740	1,12991	2201	4295	6496	SO:0001819	synonymous_variant	92292					mitochondrion	glycine N-acyltransferase activity	g.chr11:58722740G>A	AK091965	CCDS31556.1, CCDS55768.1	11q12.1	2014-08-12			ENSG00000166840	ENSG00000166840			30519	protein-coding gene	gene with protein product		614761				12477932	Standard	NM_080661		Approved	MGC15397, FLJ34646	uc001nnh.2	Q969I3	OTTHUMG00000167221	ENST00000317391.4:c.405G>A	11.37:g.58722740G>A						GLYATL1_ENST00000317391.4_Silent_p.T135T|RP11-142C4.6_ENST00000533954.1_RNA	p.T166T	NM_001220496.1|NM_080661.3	NP_001207425.1|NP_542392.2	Q969I3	GLYL1_HUMAN			6	548	+			135					A6NDT0|Q7Z510|Q8NAW8	Silent	SNP	ENST00000317391.4	37	c.498G>A	CCDS55768.1																																																																																				0.443	GLYATL1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393783.1	NM_080661		8	67	0	0	0	1	0	8	67					A	58722740	G	A	58722740	2	1	286	1	0	0	0	0	0	0	0	1	6480	1103	39	2		2	GLYATL1	11	58722740	Silent	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	330819	58722740	76283776	376	13506											
CCDC88B	283234	broad.mit.edu	37	chr11	64112271	64112271	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgagctggaagcccaggcccGcaagctggaggcccaaaaca	12	3	13	13	1	0	1	0	1	0	0	0	3	0	3	3	4	4	3	3	4	4	0	rs200509973		TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr11:64112271G>A	ENST00000356786.5	+	14	2302	c.2258G>A	c.(2257-2259)cGc>cAc	p.R753H	CCDC88B_ENST00000301897.4_5'UTR|CCDC88B_ENST00000463837.1_3'UTR	NM_032251.5	NP_115627.6	A6NC98	CC88B_HUMAN	coiled-coil domain containing 88B	753						membrane (GO:0016020)				endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						GCCCAGGCCCGCAAGCTGGAG	0.682																																						ENST00000356786.5																			0				endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(2257-2259)cGc>cAc		coiled-coil domain containing 88B							30	37	34					11																	64112271		2199	4296	6495	SO:0001583	missense	283234				microtubule cytoskeleton organization	cytoplasm	microtubule binding	g.chr11:64112271G>A	AK090436	CCDS8072.2	11q13.1	2013-03-13	2007-05-31	2007-05-31	ENSG00000168071	ENSG00000168071			26757	protein-coding gene	gene with protein product	"brain leucine zipper protein", "GRP78-interacting protein induced by ER stress"	611205	"coiled-coil domain containing 88"	CCDC88		15882442, 21289099	Standard	NM_032251		Approved	FLJ37970, BRLZ, HkRP3, FLJ00354, GIPIE	uc001nzy.3	A6NC98	OTTHUMG00000045419	ENST00000356786.5:c.2258G>A	11.37:g.64112271G>A	ENSP00000349238:p.Arg753His					CCDC88B_ENST00000463837.1_3'UTR|CCDC88B_ENST00000301897.4_5'UTR	p.R753H	NM_032251.5	NP_115627.6	A6NC98	CC88B_HUMAN			14	2302	+			753					A5D8Y5|B5MDM2|Q05BL2|Q6RUV3|Q8N1Q6|Q8NF44|Q9H0H1	Missense_Mutation	SNP	ENST00000356786.5	37	c.2258G>A	CCDS8072.2	.	.	.	.	.	.	.	.	.	.	g	13.29	2.194350	0.38806	.	.	ENSG00000168071	ENST00000377638;ENST00000356786	T	0.29917	1.55	3.47	1.47	0.22746	.	.	.	.	.	T	0.28067	0.0692	L	0.43152	1.355	0.80722	D	1	D;D;D	0.60160	0.987;0.98;0.987	P;P;P	0.48677	0.499;0.586;0.499	T	0.03354	-1.1045	9	0.44086	T	0.13	.	5.9027	0.18976	0.3935:0.0:0.6065:0.0	.	753;402;753	B2RTU8;A6NC98-3;A6NC98	.;.;CC88B_HUMAN	H	753	ENSP00000349238:R753H	ENSP00000349238:R753H	R	+	2	0	CCDC88B	63868847	0.020000	0.18652	0.973000	0.42090	0.163000	0.22366	1.215000	0.32431	0.225000	0.20959	0.450000	0.29827	CGC		0.682	CCDC88B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000104845.1	NM_032251		4	18	0	0	0	1	0	4	18					A	64112271	G	A	64112271	3	1	286	1	0	0	0	0	1	0	0	0	2864	1087	38	1	2312	1	CCDC88B	11	64112271	Missense_Mutation	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	5389531	64112271	70894245	377	13507											
C11orf2	738	broad.mit.edu	37	chr11	64877312	64877312	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcaagagcgtggagactcgcGactggctcagcactctggag	9	6	15	11	3	2	2	1	0	1	2	3	5	2	3	0	3	2	3	0	3	1	0			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr11:64877312G>A	ENST00000279281.3	+	7	1887	c.1795G>A	c.(1795-1797)Gac>Aac	p.D599N	TM7SF2_ENST00000279263.7_5'Flank|TM7SF2_ENST00000345348.5_5'Flank|TM7SF2_ENST00000540748.1_5'Flank|VPS51_ENST00000527646.1_3'UTR|AP003068.9_ENST00000528887.1_RNA	NM_013265.2	NP_037397.2	Q9UID3	VPS51_HUMAN	vacuolar protein sorting 51 homolog (S. cerevisiae)	599					autophagy (GO:0006914)|lipid transport (GO:0006869)|protein transport (GO:0015031)|retrograde transport, endosome to Golgi (GO:0042147)	GARP complex (GO:0000938)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)											GGAGACTCGCGACTGGCTCAG	0.657																																						ENST00000279281.3																			0											c.(1795-1797)Gac>Aac		vacuolar protein sorting 51 homolog (S. cerevisiae)							36	37	37					11																	64877312		2200	4297	6497	SO:0001583	missense	738							g.chr11:64877312G>A	AF024631	CCDS8093.1	11q13.1	2012-07-19	2012-07-19	2012-07-19	ENSG00000149823	ENSG00000149823			1172	protein-coding gene	gene with protein product	"fat-free homolog (zebrafish)"	615738	"chromosome 11 open reading frame 3", "chromosome 11 open reading frame 2"	C11orf3, C11orf2		9286704, 20685960	Standard	NM_013265		Approved	ANG2, ANG3, FFR	uc001ocr.2	Q9UID3	OTTHUMG00000165600	ENST00000279281.3:c.1795G>A	11.37:g.64877312G>A	ENSP00000279281:p.Asp599Asn					VPS51_ENST00000527646.1_3'UTR	p.D599N	NM_013265.2	NP_037397.2					7	1887	+								Q6PJV5|Q7L8A6|Q8WZ35|Q96DF4|Q96GR3	Missense_Mutation	SNP	ENST00000279281.3	37	c.1795G>A	CCDS8093.1	.	.	.	.	.	.	.	.	.	.	G	34	5.314652	0.95655	.	.	ENSG00000149823	ENST00000279281	.	.	.	4.7	4.7	0.59300	.	0.000000	0.85682	D	0.000000	T	0.73289	0.3568	L	0.49778	1.585	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.71906	-0.4451	9	0.38643	T	0.18	-8.5288	15.1714	0.72875	0.0:0.0:1.0:0.0	.	599	Q9UID3	FFR_HUMAN	N	599	.	ENSP00000279281:D599N	D	+	1	0	C11orf2	64633888	1.000000	0.71417	1.000000	0.80357	0.765000	0.43378	9.278000	0.95766	2.438000	0.82558	0.484000	0.47621	GAC		0.657	VPS51-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385217.1	NM_013265		4	15	0	0	0	1	0	4	15					A	64877312	G	A	64877312	3	1	286	1	0	0	0	0	1	0	0	0	1633	1058	37	2	1821	2	C11orf2	11	64877312	Missense_Mutation	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	765041	64877312	70129204	378	13508											
DPF2	5977	broad.mit.edu	37	chr11	65107961	65107961	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctttcttggactcacagacCggagtagcccagagcaattg	10	9	10	12	1	2	2	1	0	1	2	2	4	2	4	3	2	2	2	3	2	2	4	rs139698375	byFrequency	TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr11:65107961C>T	ENST00000528416.1	+	2	271	c.138C>T	c.(136-138)acC>acT	p.T46T	DPF2_ENST00000532264.1_Intron|DPF2_ENST00000415073.2_Silent_p.T46T|DPF2_ENST00000252268.4_Silent_p.T46T	NM_006268.4	NP_006259.1	Q92785	REQU_HUMAN	D4, zinc and double PHD fingers family 2	46					apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|zinc ion binding (GO:0008270)			endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|prostate(1)	23						ACTCACAGACCGGAGTAGCCC	0.562																																						ENST00000528416.1																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|prostate(1)	23						c.(136-138)acC>acT		D4, zinc and double PHD fingers family 2		C		1,4401	2.1+/-5.4	0,1,2200	99	100	100		138	-11	0.1	11	dbSNP_134	100	0,8594		0,0,4297	no	coding-synonymous	DPF2	NM_006268.4		0,1,6497	TT,TC,CC		0.0,0.0227,0.0077		46/392	65107961	1,12995	2201	4297	6498	SO:0001819	synonymous_variant	5977				apoptosis|induction of apoptosis by extracellular signals|regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|nucleus	nucleic acid binding|zinc ion binding	g.chr11:65107961C>T	U94585	CCDS8100.1	11q13.1	2014-05-13	2003-10-06	2003-10-08	ENSG00000133884	ENSG00000133884		"Zinc fingers, PHD-type"	9964	protein-coding gene	gene with protein product		601671	"requiem, apoptosis response zinc finger gene"	REQ		11845289	Standard	NM_006268		Approved	ubi-d4, BAF45d	uc001odm.3	Q92785	OTTHUMG00000165985	ENST00000528416.1:c.138C>T	11.37:g.65107961C>T						DPF2_ENST00000252268.4_Silent_p.T46T|DPF2_ENST00000532264.1_Intron|DPF2_ENST00000415073.2_Silent_p.T46T	p.T46T	NM_006268.4	NP_006259.1	Q92785	REQU_HUMAN			2	271	+			46					A8K7C9|B4DT58	Silent	SNP	ENST00000528416.1	37	c.138C>T	CCDS8100.1																																																																																				0.562	DPF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387293.3	NM_006268		17	85	0	0	0	1	0	17	85					T	65107961	C	T	65107961	2	4	286	1	0	0	0	0	0	0	0	1	4717	639	23	2		2	DPF2	11	65107961	Silent	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	230649	65107961	69898555	379	13509											
MAP3K11	4296	broad.mit.edu	37	chr11	65366866	65366866	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccggcttcaggccactcaccGcggggctcctcctcacgtcg	4	7	11	19	5	3	0	3	0	0	0	6	0	5	0	5	4	0	2	5	4	0	1			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr11:65366866G>A	ENST00000530153.1	-	9	1955	c.1434C>T	c.(1432-1434)cgC>cgT	p.R478R	MAP3K11_ENST00000309100.3_Splice_Site_p.R735R|MAP3K11_ENST00000534432.1_5'Flank|MAP3K11_ENST00000532507.1_Splice_Site_p.R151R					mitogen-activated protein kinase kinase kinase 11											breast(3)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(14)|skin(1)	24						GCCACTCACCGCGGGGCTCCT	0.687																																						ENST00000309100.3																			0				breast(3)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(14)|skin(1)	24						c.e9+1		mitogen-activated protein kinase kinase kinase 11							11	13	12					11																	65366866		2127	4214	6341	SO:0001630	splice_region_variant	4296				activation of JUN kinase activity|cell proliferation|G1 phase of mitotic cell cycle|microtubule-based process|positive regulation of JNK cascade|protein autophosphorylation	centrosome|microtubule	ATP binding|JUN kinase kinase kinase activity|mitogen-activated protein kinase kinase kinase binding|protein homodimerization activity	g.chr11:65366866G>A		CCDS8107.1	11q13.1-q13.3	2011-06-09			ENSG00000173327	ENSG00000173327	2.7.10.1	"Mitogen-activated protein kinase cascade / Kinase kinase kinases"	6850	protein-coding gene	gene with protein product		600050		MLK3, PTK1		9267807, 8183572	Standard	NM_002419		Approved	SPRK, MEKK11	uc001oew.3	Q16584	OTTHUMG00000166529	ENST00000530153.1:c.1435+1C>T	11.37:g.65366866G>A						MAP3K11_ENST00000530153.1_Splice_Site_p.R478_splice|MAP3K11_ENST00000532507.1_Splice_Site_p.R151_splice	p.R735_splice	NM_002419.3	NP_002410.1	Q16584	M3K11_HUMAN			9	2690	-			735			Pro-rich.			Splice_Site	SNP	ENST00000530153.1	37	c.2206_splice																																																																																					0.687	MAP3K11-004	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000390233.2		Silent	3	10	0	0	0	1	0	3	10					A	65366866	G	A	65366866	5	1	286	1	0	0	0	0	0	0	1	0	9245	1101	38	1	346	1	MAP3K11	11	65366866	Splice_Site	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	258905	65366866	69639650	380	13510											
DKFZp761E198	91056	broad.mit.edu	37	chr11	65547172	65547172	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accgcagcccgcagctcccgCgcctcctcagggctgtgctc	4	6	11	20	4	1	0	1	0	0	0	4	0	3	0	5	1	3	5	5	1	0	0			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr11:65547172C>T	ENST00000532090.2	-	2	1002	c.792G>A	c.(790-792)gcG>gcA	p.A264A		NM_138368.4	NP_612377.4	Q2VPB7	AP5B1_HUMAN	adaptor-related protein complex 5, beta 1 subunit	264	Leu-rich.				endosomal transport (GO:0016197)|protein transport (GO:0015031)	AP-type membrane coat adaptor complex (GO:0030119)|lysosomal membrane (GO:0005765)				lung(1)	1						GCAGCTCCCGCGCCTCCTCAG	0.692																																						ENST00000532090.2																			0				lung(1)	1						c.(790-792)gcG>gcA		adaptor-related protein complex 5, beta 1 subunit							40	51	47					11																	65547172		2091	4212	6303	SO:0001819	synonymous_variant	91056						protein binding	g.chr11:65547172C>T	JQ313135	CCDS58146.1	11q13.1	2012-02-29			ENSG00000254470	ENSG00000254470			25104	protein-coding gene	gene with protein product		614367				22022230	Standard	NM_138368		Approved	PP1030, AP-5, DKFZp761E198	uc031qbm.1	Q2VPB7	OTTHUMG00000166593	ENST00000532090.2:c.792G>A	11.37:g.65547172C>T							p.A264A	NM_138368.4	NP_612377.4	Q2VPB7	YK046_HUMAN			2	1002	-			207			Leu-rich.		A1L0S6|H6WUK2|Q0D2Q2|Q8N3J7|Q8WYH6	Silent	SNP	ENST00000532090.2	37	c.792G>A	CCDS58146.1																																																																																				0.692	AP5B1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390636.2	NM_138368		15	61	0	0	0	1	0	15	61					T	65547172	C	T	65547172	2	4	286	1	0	0	0	0	0	0	0	1	4543	755	27	1		1	DKFZp761E198	11	65547172	Silent	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	180306	65547172	69459344	381	13511											
EFEMP2	30008	broad.mit.edu	37	chr11	65635813	65635813	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acgcagcggttggtgtccacGcagcggtagcccccatggaa	8	6	14	13	4	0	0	0	0	0	0	1	1	1	1	3	4	3	4	3	4	2	2			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr11:65635813G>A	ENST00000307998.6	-	9	1157	c.927C>T	c.(925-927)tgC>tgT	p.C309C	EFEMP2_ENST00000532648.1_5'Flank|EFEMP2_ENST00000528176.1_Silent_p.C309C	NM_016938.4	NP_058634.4	O95967	FBLN4_HUMAN	EGF containing fibulin-like extracellular matrix protein 2	309	EGF-like 6; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				blood coagulation (GO:0007596)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|vesicle (GO:0031982)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)|transmembrane signaling receptor activity (GO:0004888)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21				READ - Rectum adenocarcinoma(159;0.169)		TGGTGTCCACGCAGCGGTAGC	0.602																																						ENST00000307998.6																			0				cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21						c.(925-927)tgC>tgT		EGF containing fibulin-like extracellular matrix protein 2							52	45	48					11																	65635813		2201	4296	6497	SO:0001819	synonymous_variant	30008				blood coagulation	basement membrane|membrane	calcium ion binding|extracellular matrix structural constituent|protein binding|transmembrane receptor activity	g.chr11:65635813G>A	AF109121	CCDS8116.1	11q13	2011-06-17	2011-01-25		ENSG00000172638	ENSG00000172638		"Fibulins"	3219	protein-coding gene	gene with protein product	"fibulin 4"	604633	"EGF-containing fibulin-like extracellular matrix protein 2"			10601734, 10982184	Standard	NR_037718		Approved	FBLN4, UPH1	uc001ofy.4	O95967	OTTHUMG00000166664	ENST00000307998.6:c.927C>T	11.37:g.65635813G>A						EFEMP2_ENST00000528176.1_Silent_p.C309C	p.C309C	NM_016938.4	NP_058634.4	O95967	FBLN4_HUMAN		READ - Rectum adenocarcinoma(159;0.169)	9	1157	-			309			EGF-like 6; calcium-binding (Potential).		A8K7R4|B3KM31|B3KQT1|O75967	Silent	SNP	ENST00000307998.6	37	c.927C>T	CCDS8116.1																																																																																				0.602	EFEMP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391047.4	NM_016938		7	30	0	0	0	1	0	7	30					A	65635813	G	A	65635813	2	1	286	1	0	0	0	0	0	0	0	1	4942	1079	38	1		1	EFEMP2	11	65635813	Silent	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	88641	65635813	69370703	382	13512											
DPP3	10072	broad.mit.edu	37	chr11	66260244	66260244	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtttgagcggctggtggcgaGcgcagagcagctgctgaagg	7	7	19	8	3	0	3	0	2	0	1	0	4	0	3	0	4	5	6	0	4	1	1			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr11:66260244G>A	ENST00000360510.2	+	10	1111	c.1046G>A	c.(1045-1047)aGc>aAc	p.S349N	DPP3_ENST00000530165.1_Missense_Mutation_p.S319N|DPP3_ENST00000532677.1_Missense_Mutation_p.S368N|DPP3_ENST00000453114.1_Missense_Mutation_p.S349N|DPP3_ENST00000541961.1_Missense_Mutation_p.S349N|DPP3_ENST00000531863.1_Missense_Mutation_p.S369N|DPP3_ENST00000533799.1_3'UTR			Q9NY33	DPP3_HUMAN	dipeptidyl-peptidase 3	349					proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	dipeptidyl-peptidase activity (GO:0008239)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)	23						CTGGTGGCGAGCGCAGAGCAG	0.597																																						ENST00000532677.1																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)	23						c.(1102-1104)aGc>aAc		dipeptidyl-peptidase 3							95	89	91					11																	66260244		2200	4295	6495	SO:0001583	missense	10072				proteolysis	cytoplasm	aminopeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity	g.chr11:66260244G>A	AB017970	CCDS8141.1, CCDS58147.1	11q12-q13.1	2008-02-05	2006-01-12		ENSG00000254986	ENSG00000254986	3.4.14.4		3008	protein-coding gene	gene with protein product		606818	"dipeptidylpeptidase III", "dipeptidylpeptidase 3"			10773679	Standard	NM_005700		Approved		uc001oif.2	Q9NY33	OTTHUMG00000167143	ENST00000360510.2:c.1046G>A	11.37:g.66260244G>A	ENSP00000353701:p.Ser349Asn					DPP3_ENST00000541961.1_Missense_Mutation_p.S349N|DPP3_ENST00000453114.1_Missense_Mutation_p.S349N|DPP3_ENST00000530165.1_Missense_Mutation_p.S319N|DPP3_ENST00000360510.2_Missense_Mutation_p.S349N|DPP3_ENST00000533799.1_3'UTR|DPP3_ENST00000531863.1_Missense_Mutation_p.S369N	p.S368N	NM_001256670.1|NM_005700.4|NM_130443.3	NP_001243599.1|NP_005691.2|NP_569710.2	Q9NY33	DPP3_HUMAN			10	1504	+			349					B2RDB5|B4DLX4|F5H8L6|O95748|Q969H2|Q9BV67|Q9HAL6	Missense_Mutation	SNP	ENST00000360510.2	37	c.1103G>A	CCDS8141.1	.	.	.	.	.	.	.	.	.	.	G	4.810	0.150585	0.09185	.	.	ENSG00000254986	ENST00000531863;ENST00000532677;ENST00000360510;ENST00000453114;ENST00000541961;ENST00000530165;ENST00000543807	T;T;T;T;T;T	0.21734	1.99;1.99;1.99;1.99;1.99;1.99	5.41	5.41	0.78517	.	0.197429	0.56097	D	0.000037	T	0.14657	0.0354	L	0.31207	0.915	0.22728	N	0.998806	B;B	0.12013	0.005;0.001	B;B	0.12156	0.007;0.003	T	0.20207	-1.0282	10	0.13853	T	0.58	.	11.7591	0.51892	0.0:0.0:0.8242:0.1758	.	368;349	G3V1D3;Q9NY33	.;DPP3_HUMAN	N	369;368;349;349;349;319;247	ENSP00000432782:S369N;ENSP00000435284:S368N;ENSP00000353701:S349N;ENSP00000389943:S349N;ENSP00000440502:S349N;ENSP00000436941:S319N	ENSP00000353701:S349N	S	+	2	0	DPP3	66016820	1.000000	0.71417	0.104000	0.21259	0.406000	0.30931	5.118000	0.64673	2.535000	0.85469	0.655000	0.94253	AGC		0.597	DPP3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393424.2			19	98	0	0	0	1	0	19	98					A	66260244	G	A	66260244	3	1	286	1	0	0	0	0	1	0	0	0	4728	971	34	3	1080	3	DPP3	11	66260244	Missense_Mutation	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	624431	66260244	68746272	383	13513											
SPTBN2	6712	broad.mit.edu	37	chr11	66468529	66468529	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcgagtcagttcgcccaccCgggcggcgatggcctccagg	5	6	14	16	5	1	0	1	0	0	0	4	2	2	0	4	4	0	1	4	4	0	1			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr11:66468529C>T	ENST00000533211.1	-	17	3372	c.3041G>A	c.(3040-3042)cGg>cAg	p.R1014Q	SPTBN2_ENST00000309996.2_Missense_Mutation_p.R1014Q|SPTBN2_ENST00000529997.1_Missense_Mutation_p.R1014Q			O15020	SPTN2_HUMAN	spectrin, beta, non-erythrocytic 2	1014					actin filament capping (GO:0051693)|adult behavior (GO:0030534)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon guidance (GO:0007411)|cell death (GO:0008219)|cerebellar Purkinje cell layer morphogenesis (GO:0021692)|multicellular organism growth (GO:0035264)|synapse assembly (GO:0007416)|vesicle-mediated transport (GO:0016192)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular space (GO:0005615)|neuronal cell body (GO:0043025)|spectrin (GO:0008091)	actin binding (GO:0003779)|phospholipid binding (GO:0005543)|structural constituent of cytoskeleton (GO:0005200)			autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	74						TTCGCCCACCCGGGCGGCGAT	0.701																																						ENST00000533211.1																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	74						c.(3040-3042)cGg>cAg		spectrin, beta, non-erythrocytic 2							28	32	30					11																	66468529		2198	4291	6489	SO:0001583	missense	6712				actin filament capping|axon guidance|cell death|vesicle-mediated transport	cytosol|spectrin	actin binding|structural constituent of cytoskeleton	g.chr11:66468529C>T	AB008567, AF026487, AF026488, AF079569	CCDS8150.1	11q13.2	2013-01-10			ENSG00000173898	ENSG00000173898		"Pleckstrin homology (PH) domain containing"	11276	protein-coding gene	gene with protein product		604985	"spinocerebellar ataxia 5"	SCA5		9826670, 16429157	Standard	NM_006946		Approved		uc001ojd.3	O15020	OTTHUMG00000167262	ENST00000533211.1:c.3041G>A	11.37:g.66468529C>T	ENSP00000432568:p.Arg1014Gln					SPTBN2_ENST00000529997.1_Missense_Mutation_p.R1014Q|SPTBN2_ENST00000309996.2_Missense_Mutation_p.R1014Q	p.R1014Q			O15020	SPTN2_HUMAN			17	3372	-			1014					O14872|O14873	Missense_Mutation	SNP	ENST00000533211.1	37	c.3041G>A	CCDS8150.1	.	.	.	.	.	.	.	.	.	.	C	16.04	3.009171	0.54361	.	.	ENSG00000173898	ENST00000533211;ENST00000309996;ENST00000529997	T;T;T	0.52295	0.67;0.67;0.67	4.51	4.51	0.55191	.	0.065157	0.64402	D	0.000010	T	0.39655	0.1086	N	0.08118	0	0.34249	D	0.678603	D	0.76494	0.999	P	0.61070	0.883	T	0.52457	-0.8573	10	0.48119	T	0.1	.	6.717	0.23308	0.0:0.8057:0.0:0.1943	.	1014	O15020	SPTN2_HUMAN	Q	1014	ENSP00000432568:R1014Q;ENSP00000311489:R1014Q;ENSP00000433593:R1014Q	ENSP00000311489:R1014Q	R	-	2	0	SPTBN2	66225105	0.034000	0.19679	0.890000	0.34922	0.014000	0.08584	1.683000	0.37638	2.343000	0.79666	0.491000	0.48974	CGG		0.701	SPTBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393892.2	NM_006946		9	53	0	0	0	1	0	9	53					T	66468529	C	T	66468529	3	4	286	1	0	0	0	0	1	0	0	0	15119	652	23	2	4219	2	SPTBN2	11	66468529	Missense_Mutation	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	208285	66468529	68537987	384	13514											
IGHMBP2	3508	broad.mit.edu	37	chr11	68675744	68675744	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atttccagttgagcttggacCgagagaattcctacagactg	11	11	10	9	1	0	3	0	1	0	2	2	6	2	4	3	1	2	2	3	1	2	5			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr11:68675744C>T	ENST00000255078.3	+	3	499	c.388C>T	c.(388-390)Cga>Tga	p.R130*	IGHMBP2_ENST00000539224.1_Nonsense_Mutation_p.R130*	NM_002180.2	NP_002171.2	P38935	SMBP2_HUMAN	immunoglobulin mu binding protein 2	130					ATP catabolic process (GO:0006200)|cell death (GO:0008219)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|protein homooligomerization (GO:0051260)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|translation (GO:0006412)	axon (GO:0030424)|cytoplasm (GO:0005737)|growth cone (GO:0030426)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|ATP-dependent 5'-3' DNA helicase activity (GO:0043141)|ATP-dependent 5'-3' RNA helicase activity (GO:0032575)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA-dependent ATPase activity (GO:0008094)|ribosome binding (GO:0043022)|RNA binding (GO:0003723)|RNA-dependent ATPase activity (GO:0008186)|single-stranded DNA binding (GO:0003697)|transcription factor binding (GO:0008134)|tRNA binding (GO:0000049)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|liver(1)|lung(15)|ovary(2)|prostate(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			GAGCTTGGACCGAGAGAATTC	0.507																																						ENST00000255078.3																			0				central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|liver(1)|lung(15)|ovary(2)|prostate(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	GRCh37	CM034524	IGHMBP2	M		c.(388-390)Cga>Tga		immunoglobulin mu binding protein 2							127	121	123					11																	68675744		2200	4294	6494	SO:0001587	stop_gained	3508				cell death|DNA recombination|DNA repair|DNA replication|protein homooligomerization|transcription, DNA-dependent|translation	axon|growth cone|nucleus|ribonucleoprotein complex	ATP binding|ATP-dependent 5'-3' DNA helicase activity|ATP-dependent 5'-3' RNA helicase activity|ribosome binding|single-stranded DNA binding|transcription factor binding|tRNA binding|zinc ion binding	g.chr11:68675744C>T	L14754	CCDS8187.1	11q13.3	2014-09-17			ENSG00000132740	ENSG00000132740		"Zinc fingers, AN1-type domain containing"	5542	protein-coding gene	gene with protein product	"cardiac transcription factor 1", "zinc finger, AN1-type domain 7"	600502				8349627	Standard	NM_002180		Approved	ZFAND7, SMUBP2, CATF1, SMARD1, HCSA, HMN6	uc001ook.1	P38935	OTTHUMG00000167894	ENST00000255078.3:c.388C>T	11.37:g.68675744C>T	ENSP00000255078:p.Arg130*					IGHMBP2_ENST00000539224.1_Nonsense_Mutation_p.R130*	p.R130*	NM_002180.2	NP_002171.2	P38935	SMBP2_HUMAN	STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)		3	499	+			130					A0PJD2|Q00443|Q14177	Nonsense_Mutation	SNP	ENST00000255078.3	37	c.388C>T	CCDS8187.1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.435085	0.83885	.	.	ENSG00000132740	ENST00000255078;ENST00000539224	.	.	.	4.09	3.17	0.36434	.	0.564181	0.16685	N	0.203777	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.08179	T	0.78	-6.5401	10.4405	0.44462	0.3504:0.6496:0.0:0.0	.	.	.	.	X	130	.	ENSP00000255078:R130X	R	+	1	2	IGHMBP2	68432320	0.001000	0.12720	0.301000	0.25044	0.935000	0.57460	0.795000	0.26972	0.911000	0.36747	0.549000	0.68633	CGA		0.507	IGHMBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396862.1	NM_002180		13	74	0	0	0	1	0	13	74					T	68675744	C	T	68675744	4	4	286	1	0	0	0	0	0	1	0	0	7591	644	23	2	398	2	IGHMBP2	11	68675744	Nonsense_Mutation	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	2207215	68675744	66330772	385	13515											
USP35	57558	broad.mit.edu	37	chr11	77924841	77924841	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	ggtggcaatggtggtgacttCcacagactggtcttctaatg	8	12	13	8	0	2	2	0	1	2	1	3	2	3	2	1	5	0	1	1	5	2	3			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr11:77924841C>G	ENST00000529308.1	+	11	3300	c.3039C>G	c.(3037-3039)ttC>ttG	p.F1013L	USP35_ENST00000526425.1_Missense_Mutation_p.F744L|USP35_ENST00000530535.1_3'UTR|USP35_ENST00000441408.2_Missense_Mutation_p.F599L|USP35_ENST00000530267.1_Missense_Mutation_p.F581L	NM_020798.2	NP_065849.1	Q9P2H5	UBP35_HUMAN	ubiquitin specific peptidase 35	1013					protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitin-specific protease activity (GO:0004843)			endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(3)|urinary_tract(1)	23	all_cancers(14;3.77e-18)|all_epithelial(13;6.16e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.04e-25)			GTGGTGACTTCCACAGACTGG	0.592																																						ENST00000529308.1																			0				endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(3)|urinary_tract(1)	23						c.(3037-3039)ttC>ttG		ubiquitin specific peptidase 35							75	75	75					11																	77924841		2055	4184	6239	SO:0001583	missense	57558				ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr11:77924841C>G	AB037793	CCDS41693.1	11q13.4	2008-02-05	2005-08-08			ENSG00000118369		"Ubiquitin-specific peptidases"	20061	protein-coding gene	gene with protein product			"ubiquitin specific protease 35"			12838346	Standard	NM_020798		Approved	KIAA1372	uc021qny.1	Q9P2H5		ENST00000529308.1:c.3039C>G	11.37:g.77924841C>G	ENSP00000431876:p.Phe1013Leu					USP35_ENST00000530535.1_3'UTR|USP35_ENST00000530267.1_Missense_Mutation_p.F581L|USP35_ENST00000526425.1_Missense_Mutation_p.F744L|USP35_ENST00000441408.2_Missense_Mutation_p.F599L	p.F1013L	NM_020798.2	NP_065849.1	Q9P2H5	UBP35_HUMAN	OV - Ovarian serous cystadenocarcinoma(8;1.04e-25)		11	3300	+	all_cancers(14;3.77e-18)|all_epithelial(13;6.16e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		1013						Missense_Mutation	SNP	ENST00000529308.1	37	c.3039C>G	CCDS41693.1	.	.	.	.	.	.	.	.	.	.	c	16.44	3.124149	0.56613	.	.	ENSG00000118369	ENST00000530267;ENST00000529308;ENST00000441408;ENST00000526425	T;T;T;T	0.24151	2.67;3.25;1.87;2.64	4.7	3.79	0.43588	.	0.503717	0.16827	N	0.197905	T	0.29783	0.0744	L	0.59436	1.845	0.42662	D	0.993482	P;P	0.47841	0.767;0.901	B;P	0.44696	0.344;0.458	T	0.05402	-1.0887	10	0.30854	T	0.27	-30.7273	12.9931	0.58632	0.0:0.9217:0.0:0.0783	.	1013;599	Q9P2H5;E7EWV7	UBP35_HUMAN;.	L	581;1013;599;744	ENSP00000435468:F581L;ENSP00000431876:F1013L;ENSP00000400825:F599L;ENSP00000434942:F744L	ENSP00000400825:F599L	F	+	3	2	USP35	77602489	1.000000	0.71417	1.000000	0.80357	0.834000	0.47266	0.971000	0.29396	1.202000	0.43218	0.558000	0.71614	TTC		0.592	USP35-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390026.1	XM_290527		5	39	0	0	0	1	0	5	39					G	77924841	C	G	77924841	3	3	286	1	0	0	0	0	1	0	0	0	17063	854	30	5	3077	5	USP35	11	77924841	Missense_Mutation	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	9249097	77924841	57081675	386	13516											
CCDC81	60494	broad.mit.edu	37	chr11	86106421	86106421	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtctagcagagaggccttgAggaagtggcccagcagtgtg	9	8	16	8	0	1	2	0	1	1	1	1	4	1	3	2	3	2	2	2	3	2	2			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr11:86106421A>C	ENST00000445632.2	+	5	873	c.601A>C	c.(601-603)Agg>Cgg	p.R201R	CCDC81_ENST00000278487.3_5'UTR|CCDC81_ENST00000528728.1_5'UTR|CCDC81_ENST00000354755.1_Silent_p.R111R	NM_001156474.1	NP_001149946.1	Q6ZN84	CCD81_HUMAN	coiled-coil domain containing 81	201										kidney(3)|large_intestine(8)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	20		Acute lymphoblastic leukemia(157;5.51e-06)|all_hematologic(158;0.00535)				AGAGGCCTTGAGGAAGTGGCC	0.547																																						ENST00000445632.2																			0				kidney(3)|large_intestine(8)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	20						c.(601-603)Agg>Cgg		coiled-coil domain containing 81							244	193	210					11																	86106421		2202	4299	6501	SO:0001819	synonymous_variant	60494							g.chr11:86106421A>C	AK131331	CCDS8276.1, CCDS53691.1	11q14.2	2006-03-09			ENSG00000149201	ENSG00000149201			26281	protein-coding gene	gene with protein product							Standard	NM_001156474		Approved	FLJ16339, FLJ23514	uc001pbx.2	Q6ZN84	OTTHUMG00000167213	ENST00000445632.2:c.601A>C	11.37:g.86106421A>C						CCDC81_ENST00000278487.3_5'UTR|CCDC81_ENST00000354755.1_Silent_p.R111R|CCDC81_ENST00000528728.1_5'UTR	p.R201R	NM_001156474.1	NP_001149946.1	Q6ZN84	CCD81_HUMAN			5	873	+		Acute lymphoblastic leukemia(157;5.51e-06)|all_hematologic(158;0.00535)	201					A0AVL7|Q53FW3|Q9H5E5	Silent	SNP	ENST00000445632.2	37	c.601A>C	CCDS53691.1																																																																																				0.547	CCDC81-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393756.1	NM_021827		7	40	0	0	0	1	0	7	40					C	86106421	A	C	86106421	2	2	286	1	0	0	0	0	0	0	0	1	2855	295	11	5		5	CCDC81	11	86106421	Silent	SNP	A	TCGA-J9-A52C-01A-11D-A26M-08	8181580	86106421	48900095	387	13517											
CWF19L2	143884	broad.mit.edu	37	chr11	107309880	107309880	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtcccaccatccttccagtaCggattcaattctctttccat	8	14	4	15	1	2	0	1	0	1	0	7	1	6	1	5	1	1	1	5	1	2	5			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr11:107309880C>T	ENST00000282251.5	-	6	627	c.600G>A	c.(598-600)ccG>ccA	p.P200P	CWF19L2_ENST00000433523.1_Silent_p.P200P	NM_152434.2	NP_689647.2	Q2TBE0	C19L2_HUMAN	CWF19-like 2, cell cycle control (S. pombe)	200							catalytic activity (GO:0003824)			endometrium(4)|kidney(2)|large_intestine(13)|lung(21)	40		Melanoma(852;1.75e-05)|all_epithelial(67;6.27e-05)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0258)		Epithelial(105;7.18e-06)|BRCA - Breast invasive adenocarcinoma(274;1.65e-05)|all cancers(92;1.76e-05)		CCTTCCAGTACGGATTCAATT	0.318																																						ENST00000282251.5																			0				endometrium(4)|kidney(2)|large_intestine(13)|lung(21)	40						c.(598-600)ccG>ccA		CWF19-like 2, cell cycle control (S. pombe)							75	66	69					11																	107309880		2201	4298	6499	SO:0001819	synonymous_variant	143884						catalytic activity	g.chr11:107309880C>T	AK056905	CCDS8336.2	11q23.1	2005-09-22			ENSG00000152404	ENSG00000152404			26508	protein-coding gene	gene with protein product						14702039	Standard	NM_152434		Approved	FLJ32343	uc010rvp.2	Q2TBE0	OTTHUMG00000152975	ENST00000282251.5:c.600G>A	11.37:g.107309880C>T						CWF19L2_ENST00000433523.1_Silent_p.P200P	p.P200P	NM_152434.2	NP_689647.2	Q2TBE0	C19L2_HUMAN		Epithelial(105;7.18e-06)|BRCA - Breast invasive adenocarcinoma(274;1.65e-05)|all cancers(92;1.76e-05)	6	627	-		Melanoma(852;1.75e-05)|all_epithelial(67;6.27e-05)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0258)	200					A4FU66|A4FU67|A4FU68|Q6PHW1|Q96MI1	Silent	SNP	ENST00000282251.5	37	c.600G>A	CCDS8336.2																																																																																				0.318	CWF19L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328825.2	NM_152434		6	12	0	0	0	1	0	6	12					T	107309880	C	T	107309880	2	4	286	1	0	0	0	0	0	0	0	1	4072	523	19	1		1	CWF19L2	11	107309880	Silent	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	21203459	107309880	27696636	388	13518											
SIK3	23387	broad.mit.edu	37	chr11	116718256	116718256	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gactgactgagaactgcatcCgacatccgggcagagctaag	12	6	12	11	2	0	3	0	2	0	2	2	6	2	3	2	1	3	3	2	1	2	1	rs139869704	byFrequency	TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr11:116718256C>T	ENST00000292055.4	-	22	3605	c.3570G>A	c.(3568-3570)tcG>tcA	p.S1190S	SIK3_ENST00000446921.2_Silent_p.S1188S|SIK3_ENST00000542607.1_Silent_p.S1130S|AP006216.12_ENST00000444200.1_RNA|SIK3_ENST00000434315.2_Silent_p.S1029S|SIK3_ENST00000375300.1_Silent_p.S1248S|SIK3_ENST00000488337.1_5'UTR|SIK3_ENST00000375288.1_Silent_p.S525S	NM_025164.3	NP_079440.3	Q9Y2K2	SIK3_HUMAN	SIK family kinase 3	1190					protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)	p.S1296S(1)		breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	57						GAACTGCATCCGACATCCGGG	0.512													C|||	3	0.000599042	0.0023	0	5008	,	,		19202	0		0	False		,,,				2504	0					ENST00000375300.1																			1	Substitution - coding silent(1)	p.S1296S(1)	lung(1)	breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	57						c.(3742-3744)tcG>tcA		SIK family kinase 3		C		6,4396	11.4+/-27.6	0,6,2195	180	162	168		3570	-7.1	1	11	dbSNP_134	168	0,8584		0,0,4292	no	coding-synonymous	SIK3	NM_025164.3		0,6,6487	TT,TC,CC		0.0,0.1363,0.0462		1190/1264	116718256	6,12980	2201	4292	6493	SO:0001819	synonymous_variant	23387					cytoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity	g.chr11:116718256C>T	AB023216	CCDS8379.1, CCDS60974.1, CCDS8379.2	11q23.3	2010-02-17			ENSG00000160584	ENSG00000160584			29165	protein-coding gene	gene with protein product		614776				10231032, 8889548	Standard	NM_025164		Approved	FLJ12240, L19, KIAA0999, QSK	uc001ppy.3	Q9Y2K2	OTTHUMG00000066628	ENST00000292055.4:c.3570G>A	11.37:g.116718256C>T						AP006216.12_ENST00000444200.1_RNA|SIK3_ENST00000446921.2_Silent_p.S1188S|SIK3_ENST00000434315.2_Silent_p.S1029S|SIK3_ENST00000375288.1_Silent_p.S525S|SIK3_ENST00000292055.4_Silent_p.S1190S|SIK3_ENST00000488337.1_5'UTR|SIK3_ENST00000542607.1_Silent_p.S1130S	p.S1248S			Q9Y2K2	SIK3_HUMAN			22	3749	-			1190					A1A5A8|Q59FY2|Q5M9N1|Q6P3R6|Q8IYM8|Q9HA50	Silent	SNP	ENST00000292055.4	37	c.3744G>A	CCDS8379.1	.	.	.	.	.	.	.	.	.	.	C	7.504	0.653220	0.14580	0.001363	0.0	ENSG00000160584	ENST00000445177;ENST00000454905;ENST00000446921	.	.	.	4.92	-7.05	0.01573	.	.	.	.	.	T	0.35189	0.0923	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.45101	-0.9284	4	.	.	.	.	1.8087	0.03086	0.2159:0.3505:0.2393:0.1943	.	.	.	.	R	1290;30;1153	.	.	G	-	1	0	SIK3	116223466	0.000000	0.05858	0.979000	0.43373	0.762000	0.43233	-3.221000	0.00552	-0.691000	0.05135	-1.113000	0.02065	GGA		0.512	SIK3-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		NM_025164		26	110	0	0	0	1	0	26	110					T	116718256	C	T	116718256	2	4	286	1	0	0	0	0	0	0	0	1	14319	639	23	2		2	SIK3	11	116718256	Silent	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	9408376	116718256	18288260	389	13519											
DSCAML1	57453	broad.mit.edu	37	chr11	117374650	117374650	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccgatgtcctcttctaggaCgtggcggatcagcagcgagc	7	8	14	12	4	3	0	1	0	2	0	4	4	4	2	2	3	3	1	2	3	1	2			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr11:117374650C>T	ENST00000321322.6	-	11	2450	c.2449G>A	c.(2449-2451)Gtc>Atc	p.V817I	DSCAML1_ENST00000527706.1_Missense_Mutation_p.V547I	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	757	Ig-like C2-type 9.				axonogenesis (GO:0007409)|brain development (GO:0007420)|cell fate determination (GO:0001709)|central nervous system development (GO:0007417)|dendrite self-avoidance (GO:0070593)|dorsal/ventral pattern formation (GO:0009953)|embryonic skeletal system morphogenesis (GO:0048704)|homophilic cell adhesion (GO:0007156)|negative regulation of cell adhesion (GO:0007162)	cell surface (GO:0009986)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		TCTTCTAGGACGTGGCGGATC	0.617																																						ENST00000321322.6																			0				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110						c.(2449-2451)Gtc>Atc		Down syndrome cell adhesion molecule like 1							110	89	96					11																	117374650		2201	4296	6497	SO:0001583	missense	57453				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity	g.chr11:117374650C>T		CCDS8384.1	11q22.2-q22.3	2013-02-11			ENSG00000177103	ENSG00000177103		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	14656	protein-coding gene	gene with protein product		611782				11453658	Standard	NM_020693		Approved	KIAA1132	uc001prh.1	Q8TD84	OTTHUMG00000167071	ENST00000321322.6:c.2449G>A	11.37:g.117374650C>T	ENSP00000315465:p.Val817Ile					DSCAML1_ENST00000527706.1_Missense_Mutation_p.V547I	p.V817I	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)	11	2450	-	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)	757			Ig-like C2-type 9.		Q76MU9|Q8IZY3|Q8IZY4|Q8WXU7|Q9ULT7	Missense_Mutation	SNP	ENST00000321322.6	37	c.2449G>A	CCDS8384.1	.	.	.	.	.	.	.	.	.	.	C	19.02	3.745660	0.69418	.	.	ENSG00000177103	ENST00000527706;ENST00000321322;ENST00000446508	T;T	0.69306	-0.39;-0.39	4.29	4.29	0.51040	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.71846	0.3388	L	0.35723	1.085	0.80722	D	1	D	0.67145	0.996	D	0.64042	0.921	T	0.69363	-0.5165	9	0.27785	T	0.31	.	16.9369	0.86205	0.0:1.0:0.0:0.0	.	757	Q8TD84	DSCL1_HUMAN	I	547;817;524	ENSP00000434335:V547I;ENSP00000315465:V817I	ENSP00000315465:V817I	V	-	1	0	DSCAML1	116879860	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.877000	0.69675	2.237000	0.73441	0.462000	0.41574	GTC		0.617	DSCAML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392907.2	NM_020693		11	50	0	0	0	1	0	11	50					T	117374650	C	T	117374650	3	4	286	1	0	0	0	0	1	0	0	0	4769	536	19	1	3984	1	DSCAML1	11	117374650	Missense_Mutation	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	656394	117374650	17631866	390	13520											
MLL	4297	broad.mit.edu	37	chr11	118307279	118307281	+	In_Frame_Del	DEL	GGC	GGC	-																															cccgacccgggaccaccgggGgcggcggcggcggggggcgc																										TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr11:118307279_118307281delGGC	ENST00000389506.5	+	1	52_54	c.52_54delGGC	c.(52-54)ggcdel	p.G23del	RP11-770J1.4_ENST00000532619.1_5'Flank|KMT2A_ENST00000354520.4_In_Frame_Del_p.G23del|KMT2A_ENST00000534358.1_In_Frame_Del_p.G23del			Q03164	KMT2A_HUMAN	lysine (K)-specific methyltransferase 2A	23	Ala/Gly/Ser-rich.				anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|DNA methylation (GO:0006306)|embryonic hemopoiesis (GO:0035162)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|histone H4-K16 acetylation (GO:0043984)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cellular response to drug (GO:2001040)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transporter activity (GO:0032411)|protein complex assembly (GO:0006461)|regulation of histone H3-K4 methylation (GO:0051569)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|histone methyltransferase complex (GO:0035097)|MLL1 complex (GO:0071339)|nucleus (GO:0005634)	AT DNA binding (GO:0003680)|chromatin binding (GO:0003682)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|identical protein binding (GO:0042802)|lysine-acetylated histone binding (GO:0070577)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|unmethylated CpG binding (GO:0045322)|zinc ion binding (GO:0008270)										GACCAccgggggcggcggcggcg	0.798																																						ENST00000534358.1																			0											c.(52-54)del		lysine (K)-specific methyltransferase 2A			,	2,1460		0,2,729					,	1.4	1			3	30,3348		6,18,1665	no	coding,coding	MLL	NM_005933.3,NM_001197104.1	,	6,20,2394	A1A1,A1R,RR		0.8881,0.1368,0.6612	,	,		32,4808				SO:0001651	inframe_deletion	4297							g.chr11:118307279_118307281delGGC	L04284	CCDS31686.1, CCDS55791.1	11q23	2014-09-17	2013-05-09	2013-05-09	ENSG00000118058	ENSG00000118058		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	7132	protein-coding gene	gene with protein product		159555	"myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog)", "myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila)"	MLL		1720549	Standard	NM_001197104		Approved	TRX1, HRX, ALL-1, HTRX1, CXXC7, MLL1A		Q03164	OTTHUMG00000166337	ENST00000389506.5:c.52_54delGGC	11.37:g.118307288_118307290delGGC	ENSP00000374157:p.Gly23del					KMT2A_ENST00000389506.5_In_Frame_Del_p.G23del|KMT2A_ENST00000354520.4_In_Frame_Del_p.G23del	p.G23del	NM_001197104.1|NM_005933.3	NP_001184033.1|NP_005924.2					1	75_77	+								E9PQG7|Q13743|Q13744|Q14845|Q16364|Q59FF2|Q6UBD1|Q9HBJ3|Q9UD94|Q9UMA3	In_Frame_Del	DEL	ENST00000389506.5	37	c.52_54delGGC	CCDS31686.1																																																																																				0.798	KMT2A-015	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399085.2	NM_005933		2	4						2	4	---	---	---	---	-	118307281	GGC	-	118307279	7	5	286	1	0	1	0	1	0	0	0	0	9620	1232	43	0	54	0	MLL	11	118307279	In_Frame_Del	DEL	GGC	TCGA-J9-A52C-01A-11D-A26M-08	932629	118307279	16699237	391	13521											
C2CD2L	9854	broad.mit.edu	37	chr11	118986872	118986872	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aacggccacgcccagtgtccGaaagaaggccggcagctttt	10	6	12	13	4	0	1	0	0	0	1	1	2	1	1	4	3	2	2	4	3	3	2			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr11:118986872G>A	ENST00000336702.3	+	14	2389	c.2030G>A	c.(2029-2031)cGa>cAa	p.R677Q	C2CD2L_ENST00000528586.1_3'UTR	NM_014807.3	NP_055622.3	O14523	C2C2L_HUMAN	C2CD2-like	676						integral component of membrane (GO:0016021)				NS(1)|endometrium(1)|large_intestine(2)|lung(8)|prostate(1)	13						CCCAGTGTCCGAAAGAAGGCC	0.592																																						ENST00000336702.3																			0				NS(1)|endometrium(1)|large_intestine(2)|lung(8)|prostate(1)	13						c.(2029-2031)cGa>cAa		C2CD2-like							83	78	80					11																	118986872		2200	4295	6495	SO:0001583	missense	9854					integral to membrane		g.chr11:118986872G>A	AK025223	CCDS8413.1	11q23.3	2008-04-22	2008-04-22	2008-04-22		ENSG00000172375			29000	protein-coding gene	gene with protein product			"transmembrane protein 24"	TMEM24		15289880	Standard	XM_005271738		Approved	KIAA0285	uc001pvn.3	O14523		ENST00000336702.3:c.2030G>A	11.37:g.118986872G>A	ENSP00000338885:p.Arg677Gln					C2CD2L_ENST00000528586.1_3'UTR	p.R677Q	NM_014807.3	NP_055622.3	O14523	C2C2L_HUMAN			14	2389	+			676					Q86UT7|Q86V04|Q8N522|Q8TBN4|Q96G10	Missense_Mutation	SNP	ENST00000336702.3	37	c.2030G>A	CCDS8413.1	.	.	.	.	.	.	.	.	.	.	G	24.9	4.581247	0.86748	.	.	ENSG00000172375	ENST00000336702	T	0.58506	0.33	5.21	5.21	0.72293	.	0.061370	0.64402	D	0.000003	T	0.64681	0.2620	L	0.39245	1.2	0.80722	D	1	D;D	0.76494	0.999;0.999	D;P	0.63703	0.917;0.891	T	0.62469	-0.6848	10	0.41790	T	0.15	-9.1766	13.2882	0.60255	0.0782:0.0:0.9218:0.0	.	676;677	O14523;O14523-2	C2C2L_HUMAN;.	Q	677	ENSP00000338885:R677Q	ENSP00000338885:R677Q	R	+	2	0	C2CD2L	118492082	1.000000	0.71417	0.997000	0.53966	0.997000	0.91878	5.669000	0.68081	2.693000	0.91896	0.655000	0.94253	CGA		0.592	C2CD2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388197.2	NM_014807		14	40	0	0	0	1	0	14	40					A	118986872	G	A	118986872	3	1	286	1	0	0	0	0	1	0	0	0	2153	1058	37	2	2084	2	C2CD2L	11	118986872	Missense_Mutation	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	679593	118986872	16019644	392	13522											
GRIK4	2900	broad.mit.edu	37	chr11	120744898	120744898	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cggcccagatctggcagcacGgcaccagcctcatgaactac	10	5	10	16	2	2	2	1	1	1	1	2	2	2	2	3	3	4	3	3	3	2	1			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr11:120744898G>A	ENST00000527524.2	+	10	1317	c.1030G>A	c.(1030-1032)Ggc>Agc	p.G344S	RP11-640N11.2_ENST00000505153.2_RNA|GRIK4_ENST00000438375.2_Missense_Mutation_p.G344S	NM_001282470.1	NP_001269399.1	Q16099	GRIK4_HUMAN	glutamate receptor, ionotropic, kainate 4	344					glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|response to corticosteroid (GO:0031960)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|nucleus (GO:0005634)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	extracellular-glutamate-gated ion channel activity (GO:0005234)|kainate selective glutamate receptor activity (GO:0015277)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(20)|liver(1)|lung(29)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	69		Breast(109;0.000868)|Medulloblastoma(222;0.0453)|all_neural(223;0.116)|all_hematologic(192;0.21)		BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.116)		CTGGCAGCACGGCACCAGCCT	0.622																																						ENST00000527524.2																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(20)|liver(1)|lung(29)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	69						c.(1030-1032)Ggc>Agc		glutamate receptor, ionotropic, kainate 4	L-Glutamic Acid(DB00142)						41	36	38					11																	120744898		2203	4299	6502	SO:0001583	missense	2900				glutamate signaling pathway|synaptic transmission	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity	g.chr11:120744898G>A	S67803	CCDS8433.1	11q23.3	2012-08-29			ENSG00000149403	ENSG00000149403		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4582	protein-coding gene	gene with protein product		600282		GRIK			Standard	NM_001282470		Approved	GluK4, KA1	uc009zax.1	Q16099	OTTHUMG00000048255	ENST00000527524.2:c.1030G>A	11.37:g.120744898G>A	ENSP00000435648:p.Gly344Ser					GRIK4_ENST00000438375.2_Missense_Mutation_p.G344S|RP11-640N11.2_ENST00000505153.2_RNA	p.G344S			Q16099	GRIK4_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.116)	10	1317	+		Breast(109;0.000868)|Medulloblastoma(222;0.0453)|all_neural(223;0.116)|all_hematologic(192;0.21)	344					A8K9L1	Missense_Mutation	SNP	ENST00000527524.2	37	c.1030G>A	CCDS8433.1	.	.	.	.	.	.	.	.	.	.	g	33	5.238202	0.95240	.	.	ENSG00000149403	ENST00000527524;ENST00000438375	D;D	0.88975	-2.45;-2.45	5.2	4.28	0.50868	Extracellular ligand-binding receptor (1);	0.046581	0.85682	N	0.000000	D	0.94149	0.8123	M	0.81497	2.545	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	D	0.94770	0.7944	10	0.87932	D	0	.	14.1473	0.65357	0.0731:0.0:0.9269:0.0	.	344;344	A6H8K8;Q16099	.;GRIK4_HUMAN	S	344	ENSP00000435648:G344S;ENSP00000404063:G344S	ENSP00000404063:G344S	G	+	1	0	GRIK4	120250108	1.000000	0.71417	0.997000	0.53966	0.972000	0.66771	9.379000	0.97198	1.333000	0.45449	0.290000	0.19541	GGC		0.622	GRIK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109760.4	NM_014619		8	19	0	0	0	1	0	8	19					A	120744898	G	A	120744898	3	1	286	1	0	0	0	0	1	0	0	0	6776	1116	39	2	1060	2	GRIK4	11	120744898	Missense_Mutation	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	1758026	120744898	14261618	393	13523											
OR10G7	390265	broad.mit.edu	37	chr11	123909636	123909636	+	Frame_Shift_Del	DEL	G	G	-																															caccaggaagattccaaagaGgggggcgtccagccctgggg																										TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr11:123909636delG	ENST00000330487.5	-	1	81	c.73delC	c.(73-75)ctcfs	p.L25fs		NM_001004463.1	NP_001004463.1	Q8NGN6	O10G7_HUMAN	olfactory receptor, family 10, subfamily G, member 7	25						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(6)|lung(20)|ovary(2)|prostate(2)|stomach(3)|urinary_tract(1)	47		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		ATTCCAAAGAGGGGGGCGTCC	0.567																																						ENST00000330487.5																			0				central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(6)|lung(20)|ovary(2)|prostate(2)|stomach(3)|urinary_tract(1)	47						c.(73-75)tcfs		olfactory receptor, family 10, subfamily G, member 7							94	91	92					11																	123909636		2200	4299	6499	SO:0001589	frameshift_variant	390265				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:123909636delG	AB065754	CCDS31705.1	11q24.1	2012-08-09			ENSG00000182634	ENSG00000182634		"GPCR / Class A : Olfactory receptors"	14842	protein-coding gene	gene with protein product							Standard	NM_001004463		Approved		uc001pzq.1	Q8NGN6	OTTHUMG00000165969	ENST00000330487.5:c.73delC	11.37:g.123909636delG	ENSP00000329689:p.Leu25fs						p.L25fs	NM_001004463.1	NP_001004463.1	Q8NGN6	O10G7_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)	1	81	-		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	25					Q6IFE8	Frame_Shift_Del	DEL	ENST00000330487.5	37	c.73delC	CCDS31705.1																																																																																				0.567	OR10G7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387271.1	NM_001004463		12	80						12	80	---	---	---	---	-	123909636	G	-	123909636	7	5	286	1	0	1	0	1	0	0	0	0	10902	1000	35	0	866	0	OR10G7	11	123909636	Frame_Shift_Del	DEL	G	TCGA-J9-A52C-01A-11D-A26M-08	3164738	123909636	11096880	394	13524											
APLP2	334	broad.mit.edu	37	chr11	130010333	130010333	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgggggactgatcggtgcCgaagagaaagtgattaacag	13	7	16	5	2	0	3	0	2	0	1	1	7	0	4	1	3	2	0	1	3	3	1			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr11:130010333C>T	ENST00000263574.5	+	15	1986	c.1914C>T	c.(1912-1914)gcC>gcT	p.A638A	APLP2_ENST00000345598.5_Silent_p.A397A|APLP2_ENST00000528499.1_Silent_p.A570A|APLP2_ENST00000539648.1_Silent_p.A426A|APLP2_ENST00000338167.5_Silent_p.A626A|APLP2_ENST00000278756.7_Silent_p.A636A|APLP2_ENST00000543137.1_Silent_p.A533A	NM_001642.2	NP_001633.1	Q06481	APLP2_HUMAN	amyloid beta (A4) precursor-like protein 2	638					cellular copper ion homeostasis (GO:0006878)|cholesterol metabolic process (GO:0008203)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|G-protein coupled receptor signaling pathway (GO:0007186)|locomotory behavior (GO:0007626)|mating behavior (GO:0007617)|midbrain development (GO:0030901)|neuromuscular process controlling balance (GO:0050885)|regulation of epidermal growth factor-activated receptor activity (GO:0007176)|regulation of protein binding (GO:0043393)|suckling behavior (GO:0001967)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|serine-type endopeptidase inhibitor activity (GO:0004867)|transition metal ion binding (GO:0046914)			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(6)|ovary(4)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_hematologic(175;0.0429)	Breast(109;0.00586)|Lung NSC(97;0.00785)|all_lung(97;0.0154)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)		OV - Ovarian serous cystadenocarcinoma(99;0.0197)|Lung(977;0.24)		TGATCGGTGCCGAAGAGAAAG	0.488																																						ENST00000263574.5																			0				NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(6)|ovary(4)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						c.(1912-1914)gcC>gcT		amyloid beta (A4) precursor-like protein 2							218	192	201					11																	130010333		2201	4297	6498	SO:0001819	synonymous_variant	334				G-protein coupled receptor protein signaling pathway	integral to membrane|nucleus|plasma membrane	DNA binding|identical protein binding|serine-type endopeptidase inhibitor activity	g.chr11:130010333C>T	L19597	CCDS8486.1, CCDS44773.1, CCDS44774.1, CCDS44775.1, CCDS58196.1	11q24	2008-02-05			ENSG00000084234	ENSG00000084234			598	protein-coding gene	gene with protein product		104776		APPL2		10702673	Standard	NM_001642		Approved	APPH	uc021qsg.1	Q06481	OTTHUMG00000165767	ENST00000263574.5:c.1914C>T	11.37:g.130010333C>T						APLP2_ENST00000528499.1_Silent_p.A570A|APLP2_ENST00000345598.5_Silent_p.A397A|APLP2_ENST00000338167.5_Silent_p.A626A|APLP2_ENST00000278756.7_Silent_p.A636A|APLP2_ENST00000543137.1_Silent_p.A533A|APLP2_ENST00000539648.1_Silent_p.A426A	p.A638A	NM_001642.2	NP_001633.1	Q06481	APLP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.0197)|Lung(977;0.24)	15	1986	+	all_hematologic(175;0.0429)	Breast(109;0.00586)|Lung NSC(97;0.00785)|all_lung(97;0.0154)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)	638					B3KXX9|H7BXI4|Q13861|Q14594|Q14662|Q71U10|Q7M4L3|Q9BT36	Silent	SNP	ENST00000263574.5	37	c.1914C>T	CCDS8486.1																																																																																				0.488	APLP2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386109.1	NM_001642		8	49	0	0	0	1	0	8	49					T	130010333	C	T	130010333	2	4	286	1	0	0	0	0	0	0	0	1	779	639	23	2		2	APLP2	11	130010333	Silent	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	6100697	130010333	4996183	395	13525											
ST14	6768	broad.mit.edu	37	chr11	130059742	130059742	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcgtagtcatgctgcccccGcgggcgcgctccctgaagtc	4	7	13	17	6	1	1	1	1	0	0	3	1	2	1	3	1	2	3	3	1	2	1			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr11:130059742G>A	ENST00000278742.5	+	5	967	c.549G>A	c.(547-549)ccG>ccA	p.P183P		NM_021978.3	NP_068813.1	Q9Y5Y6	ST14_HUMAN	suppression of tumorigenicity 14 (colon carcinoma)	183	SEA. {ECO:0000255|PROSITE- ProRule:PRU00188}.				keratinocyte differentiation (GO:0030216)|proteolysis (GO:0006508)	basolateral plasma membrane (GO:0016323)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of plasma membrane (GO:0019897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|pancreas(2)|prostate(1)|skin(3)	32	all_hematologic(175;0.0429)	Lung NSC(97;0.000602)|Breast(109;0.000962)|all_lung(97;0.00126)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0183)|Lung(977;0.228)	Urokinase(DB00013)	TGCTGCCCCCGCGGGCGCGCT	0.667																																						ENST00000278742.5																			0				central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|pancreas(2)|prostate(1)|skin(3)	32						c.(547-549)ccG>ccA		suppression of tumorigenicity 14 (colon carcinoma)	Urokinase(DB00013)						80	83	82					11																	130059742		2201	4297	6498	SO:0001819	synonymous_variant	6768				proteolysis	integral to plasma membrane	serine-type endopeptidase activity	g.chr11:130059742G>A	AF118224	CCDS8487.1	11q24-q25	2011-08-31	2005-11-19		ENSG00000149418	ENSG00000149418		"Serine peptidases / Transmembrane"	11344	protein-coding gene	gene with protein product	"epithin", "matriptase"	606797		PRSS14		9925927, 10373424	Standard	NM_021978		Approved	SNC19, HAI, MT-SP1, TMPRSS14	uc001qfw.3	Q9Y5Y6	OTTHUMG00000165768	ENST00000278742.5:c.549G>A	11.37:g.130059742G>A							p.P183P	NM_021978.3	NP_068813.1	Q9Y5Y6	ST14_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.0183)|Lung(977;0.228)	5	967	+	all_hematologic(175;0.0429)	Lung NSC(97;0.000602)|Breast(109;0.000962)|all_lung(97;0.00126)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)	183					Q9BS01|Q9H3S0|Q9HB36|Q9HCA3	Silent	SNP	ENST00000278742.5	37	c.549G>A	CCDS8487.1																																																																																				0.667	ST14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386119.1			19	82	0	0	0	1	0	19	82					A	130059742	G	A	130059742	2	1	286	1	0	0	0	0	0	0	0	1	15210	1074	38	1		1	ST14	11	130059742	Silent	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	49409	130059742	4946774	396	13526											
FOXM1	2305	broad.mit.edu	37	chr12	2968088	2968088	+	Frame_Shift_Del	DEL	G	G	-																															gagcctttgcggtgattcaaGggggggagcactttgcaagg																										TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr12:2968088delG	ENST00000359843.3	-	9	2076	c.2008delC	c.(2008-2010)cttfs	p.L670fs	FOXM1_ENST00000342628.2_Frame_Shift_Del_p.L708fs|FOXM1_ENST00000361953.3_Frame_Shift_Del_p.L655fs|ITFG2_ENST00000545509.1_Intron|Y_RNA_ENST00000410561.1_RNA|AC005841.1_ENST00000382678.3_5'Flank	NM_021953.3	NP_068772.2	Q08050	FOXM1_HUMAN	forkhead box M1	670					cell cycle (GO:0007049)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA repair (GO:0006281)|G2/M transition of mitotic cell cycle (GO:0000086)|liver development (GO:0001889)|mitotic cell cycle (GO:0000278)|negative regulation of cell aging (GO:0090344)|negative regulation of stress-activated MAPK cascade (GO:0032873)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)|positive regulation of double-strand break repair (GO:2000781)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell cycle (GO:0051726)|regulation of cell cycle arrest (GO:0071156)|regulation of cell growth (GO:0001558)|regulation of cell proliferation (GO:0042127)|regulation of Ras protein signal transduction (GO:0046578)|regulation of reactive oxygen species metabolic process (GO:2000377)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)|vasculogenesis (GO:0001570)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|protein kinase binding (GO:0019901)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(3)	24			OV - Ovarian serous cystadenocarcinoma(31;0.000622)			GGTGATTCAAGGGGGGGAGCA	0.577																																						ENST00000342628.2																			0				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(3)	24						c.(2122-2124)ttfs		forkhead box M1							44	50	48					12																	2968088		2203	4300	6503	SO:0001589	frameshift_variant	2305				cell cycle|embryo development|liver development|negative regulation of cell aging|negative regulation of stress-activated MAPK cascade|negative regulation of transcription from RNA polymerase II promoter|pattern specification process|positive regulation of cell proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of cell cycle arrest|regulation of cell growth|regulation of cell proliferation|regulation of oxygen and reactive oxygen species metabolic process|regulation of Ras protein signal transduction|regulation of reactive oxygen species metabolic process|regulation of sequence-specific DNA binding transcription factor activity|tissue development|transcription from RNA polymerase II promoter|vasculogenesis	cytoplasm|transcription factor complex	DNA bending activity|DNA binding|double-stranded DNA binding|promoter binding|protein binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|transcription factor binding	g.chr12:2968088delG	Y12773	CCDS8515.1, CCDS8516.1, CCDS8517.1	12p13	2007-09-18			ENSG00000111206	ENSG00000111206		"Forkhead boxes"	3818	protein-coding gene	gene with protein product	"M-phase phosphoprotein 2"	602341		FKHL16		9032290, 9441747	Standard	NM_202002		Approved	HFH-11, trident, HNF-3, INS-1, MPP2, MPHOSPH2, TGT3	uc001qlf.3	Q08050	OTTHUMG00000168118	ENST00000359843.3:c.2008delC	12.37:g.2968088delG	ENSP00000352901:p.Leu670fs					FOXM1_ENST00000361953.3_Frame_Shift_Del_p.L655fs|FOXM1_ENST00000359843.3_Frame_Shift_Del_p.L670fs|ITFG2_ENST00000545509.1_Intron	p.L708fs	NM_202002.2	NP_973731.1	Q08050	FOXM1_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.000622)		10	2235	-			670					O43258|O43259|O43260|Q4ZGG7|Q9BRL2	Frame_Shift_Del	DEL	ENST00000359843.3	37	c.2122delC	CCDS8515.1																																																																																				0.577	FOXM1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000398272.1	NM_021953		13	52						13	52	---	---	---	---	-	2968088	G	-	2968088	7	5	286	1	0	1	0	1	0	0	0	0	6018	1000	35	0	287	0	FOXM1	12	2968088	Frame_Shift_Del	DEL	G	TCGA-J9-A52C-01A-11D-A26M-08		2968088	130883807	397	13527											
FGF23	8074	broad.mit.edu	37	chr12	4479895	4479895	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aggagagtggtagacgtcgtAcccgttttccagcgtctggt	7	11	14	9	4	1	2	0	0	1	2	3	3	2	2	2	3	2	3	2	3	2	4			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr12:4479895A>G	ENST00000237837.1	-	3	515	c.370T>C	c.(370-372)Tac>Cac	p.Y124H		NM_020638.2	NP_065689.1	Q9GZV9	FGF23_HUMAN	fibroblast growth factor 23	124					cell differentiation (GO:0030154)|cellular phosphate ion homeostasis (GO:0030643)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|negative regulation of bone mineralization (GO:0030502)|negative regulation of hormone secretion (GO:0046888)|negative regulation of osteoblast differentiation (GO:0045668)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphate ion homeostasis (GO:0055062)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway (GO:0090080)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of vitamin D 24-hydroxylase activity (GO:0010980)|regulation of phosphate transport (GO:0010966)|vitamin D catabolic process (GO:0042369)	extracellular region (GO:0005576)|extracellular space (GO:0005615)				NS(1)|breast(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	22			Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)|STAD - Stomach adenocarcinoma(119;0.206)			TAGACGTCGTACCCGTTTTCC	0.597																																						ENST00000237837.1																			0				NS(1)|breast(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	22						c.(370-372)Tac>Cac		fibroblast growth factor 23							109	106	107					12																	4479895		2203	4300	6503	SO:0001583	missense	8074				cell differentiation|insulin receptor signaling pathway|negative regulation of bone mineralization|negative regulation of hormone secretion|negative regulation of osteoblast differentiation|positive regulation of vitamin D 24-hydroxylase activity|regulation of phosphate transport|vitamin D catabolic process	extracellular space	growth factor activity	g.chr12:4479895A>G	AF263537	CCDS8526.1	12p13	2008-07-04			ENSG00000118972	ENSG00000118972			3680	protein-coding gene	gene with protein product		605380				11032749, 18310961	Standard	NM_020638		Approved		uc001qmq.1	Q9GZV9	OTTHUMG00000168241	ENST00000237837.1:c.370T>C	12.37:g.4479895A>G	ENSP00000237837:p.Tyr124His						p.Y124H	NM_020638.2	NP_065689.1	Q9GZV9	FGF23_HUMAN	Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)|STAD - Stomach adenocarcinoma(119;0.206)		3	515	-			124					Q4V758	Missense_Mutation	SNP	ENST00000237837.1	37	c.370T>C	CCDS8526.1	.	.	.	.	.	.	.	.	.	.	A	11.48	1.652407	0.29336	.	.	ENSG00000118972	ENST00000237837	D	0.94497	-3.44	4.88	4.88	0.63580	.	0.233697	0.45606	D	0.000345	D	0.93693	0.7985	M	0.73962	2.25	0.31947	N	0.610134	B	0.23591	0.088	B	0.23574	0.047	D	0.94252	0.7494	10	0.72032	D	0.01	-16.1632	14.6339	0.68676	1.0:0.0:0.0:0.0	.	124	Q9GZV9	FGF23_HUMAN	H	124	ENSP00000237837:Y124H	ENSP00000237837:Y124H	Y	-	1	0	FGF23	4350156	0.994000	0.37717	0.932000	0.37286	0.022000	0.10575	3.504000	0.53347	2.042000	0.60477	0.448000	0.29417	TAC		0.597	FGF23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398936.1			20	110	0	0	0	1	0	20	110					G	4479895	A	G	4479895	3	3	286	1	0	0	0	0	1	0	0	0	5852	391	14	4	389	4	FGF23	12	4479895	Missense_Mutation	SNP	A	TCGA-J9-A52C-01A-11D-A26M-08	1511807	4479895	129372000	398	13528											
VWF	7450	broad.mit.edu	37	chr12	6125268	6125268	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttcttactgttggacctggcGgcatcagctgctgcatccac	6	12	10	13	1	2	0	1	0	1	0	3	1	3	1	2	3	4	5	2	3	1	3			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr12:6125268G>A	ENST00000261405.5	-	31	5696	c.5442C>T	c.(5440-5442)gcC>gcT	p.A1814A		NM_000552.3	NP_000543	P04275	VWF_HUMAN	von Willebrand factor	1814	VWFA 3; main binding site for collagens type I and III. {ECO:0000255|PROSITE- ProRule:PRU00219}.				blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|cell-substrate adhesion (GO:0031589)|extracellular matrix organization (GO:0030198)|hemostasis (GO:0007599)|liver development (GO:0001889)|placenta development (GO:0001890)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|protein homooligomerization (GO:0051260)|response to wounding (GO:0009611)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|proteinaceous extracellular matrix (GO:0005578)|Weibel-Palade body (GO:0033093)	chaperone binding (GO:0051087)|collagen binding (GO:0005518)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|immunoglobulin binding (GO:0019865)|integrin binding (GO:0005178)|protease binding (GO:0002020)|protein homodimerization activity (GO:0042803)|protein N-terminus binding (GO:0047485)	p.A1814A(1)		NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	TGGACCTGGCGGCATCAGCTG	0.522																																						ENST00000261405.5																			1	Substitution - coding silent(1)	p.A1814A(1)	upper_aerodigestive_tract(1)	NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129						c.(5440-5442)gcC>gcT		von Willebrand factor	Antihemophilic Factor(DB00025)						44	41	42					12																	6125268		2203	4300	6503	SO:0001819	synonymous_variant	7450				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding	g.chr12:6125268G>A		CCDS8539.1	12p13.3	2014-09-17			ENSG00000110799	ENSG00000110799		"Endogenous ligands"	12726	protein-coding gene	gene with protein product		613160		F8VWF		2251280	Standard	NM_000552		Approved		uc001qnn.1	P04275	OTTHUMG00000168265	ENST00000261405.5:c.5442C>T	12.37:g.6125268G>A							p.A1814A	NM_000552.3	NP_000543.2	P04275	VWF_HUMAN			31	5696	-			1814			VWFA 3; main binding site for collagens type I and III.		Q8TCE8|Q99806	Silent	SNP	ENST00000261405.5	37	c.5442C>T	CCDS8539.1																																																																																				0.522	VWF-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399020.1	NM_000552		11	27	0	0	0	1	0	11	27					A	6125268	G	A	6125268	2	1	286	1	0	0	0	0	0	0	0	1	17243	1103	39	2		2	VWF	12	6125268	Silent	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	1645373	6125268	127726627	399	13529											
VWF	7450	broad.mit.edu	37	chr12	6161823	6161823	+	Frame_Shift_Del	DEL	G	G	-																															tctcatccatgtagagccctGgggggcagaagcagccctcc																								rs267607309		TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr12:6161823delG	ENST00000261405.5	-	16	2326	c.2072delC	c.(2071-2073)ccafs	p.P691fs		NM_000552.3	NP_000543	P04275	VWF_HUMAN	von Willebrand factor	691	TIL 2.				blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|cell-substrate adhesion (GO:0031589)|extracellular matrix organization (GO:0030198)|hemostasis (GO:0007599)|liver development (GO:0001889)|placenta development (GO:0001890)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|protein homooligomerization (GO:0051260)|response to wounding (GO:0009611)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|proteinaceous extracellular matrix (GO:0005578)|Weibel-Palade body (GO:0033093)	chaperone binding (GO:0051087)|collagen binding (GO:0005518)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|immunoglobulin binding (GO:0019865)|integrin binding (GO:0005178)|protease binding (GO:0002020)|protein homodimerization activity (GO:0042803)|protein N-terminus binding (GO:0047485)			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	GTAGAGCCCTGGGGGGCAGAA	0.607																																						ENST00000261405.5																			0				NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129						c.(2071-2073)cafs		von Willebrand factor	Antihemophilic Factor(DB00025)						72	68	69					12																	6161823		2203	4300	6503	SO:0001589	frameshift_variant	7450				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding	g.chr12:6161823delG		CCDS8539.1	12p13.3	2014-09-17			ENSG00000110799	ENSG00000110799		"Endogenous ligands"	12726	protein-coding gene	gene with protein product		613160		F8VWF		2251280	Standard	NM_000552		Approved		uc001qnn.1	P04275	OTTHUMG00000168265	ENST00000261405.5:c.2072delC	12.37:g.6161823delG	ENSP00000261405:p.Pro691fs						p.P691fs	NM_000552.3	NP_000543.2	P04275	VWF_HUMAN			16	2326	-			691			TIL 2.		Q8TCE8|Q99806	Frame_Shift_Del	DEL	ENST00000261405.5	37	c.2072delC	CCDS8539.1																																																																																				0.607	VWF-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399020.1	NM_000552		8	72						8	72	---	---	---	---	-	6161823	G	-	6161823	7	5	286	1	0	1	0	1	0	0	0	0	17243	1348	47	0	6517	0	VWF	12	6161823	Frame_Shift_Del	DEL	G	TCGA-J9-A52C-01A-11D-A26M-08	36555	6161823	127690072	400	13530											
TNFRSF1A	7132	broad.mit.edu	37	chr12	6438670	6438670	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcctcgcgcaggcagcgcccGttctgcagctccagccgatc	5	6	12	18	5	1	0	0	0	1	0	4	1	2	0	4	1	4	5	4	1	0	1			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr12:6438670G>A	ENST00000162749.2	-	10	1475	c.1176C>T	c.(1174-1176)aaC>aaT	p.N392N	TNFRSF1A_ENST00000437813.3_5'Flank|TNFRSF1A_ENST00000540022.1_Silent_p.N349N	NM_001065.3	NP_001056.1	P19438	TNR1A_HUMAN	tumor necrosis factor receptor superfamily, member 1A	392	Death. {ECO:0000255|PROSITE- ProRule:PRU00064}.				apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cellular response to estradiol stimulus (GO:0071392)|cellular response to mechanical stimulus (GO:0071260)|cytokine-mediated signaling pathway (GO:0019221)|defense response to bacterium (GO:0042742)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|inflammatory response (GO:0006954)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of apoptotic process (GO:0043066)|negative regulation of gene expression (GO:0010629)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-6 production (GO:0032715)|positive regulation of angiogenesis (GO:0045766)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of inflammatory response (GO:0050729)|positive regulation of protein import into nucleus, translocation (GO:0033160)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|prostaglandin metabolic process (GO:0006693)|protein heterooligomerization (GO:0051291)|response to alkaloid (GO:0043279)|response to amino acid (GO:0043200)|response to ethanol (GO:0045471)|response to hypoxia (GO:0001666)|response to lipopolysaccharide (GO:0032496)|response to wounding (GO:0009611)|tetrapyrrole metabolic process (GO:0033013)|viral process (GO:0016032)	axon (GO:0030424)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	tumor necrosis factor-activated receptor activity (GO:0005031)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	19						GGCAGCGCCCGTTCTGCAGCT	0.701																																						ENST00000162749.2																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	19						c.(1174-1176)aaC>aaT		tumor necrosis factor receptor superfamily, member 1A							13	14	14					12																	6438670		2197	4296	6493	SO:0001819	synonymous_variant	7132				apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|inflammatory response|interspecies interaction between organisms|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of inflammatory response|positive regulation of transcription from RNA polymerase II promoter|prostaglandin metabolic process	extracellular region|integral to plasma membrane|membrane raft	tumor necrosis factor receptor activity	g.chr12:6438670G>A	M75866	CCDS8542.1	12p13.2	2014-09-17			ENSG00000067182	ENSG00000067182		"Tumor necrosis factor receptor superfamily", "CD molecules"	11916	protein-coding gene	gene with protein product		191190		TNFR1		1655358, 2158863	Standard	NM_001065		Approved	TNF-R, TNFAR, TNFR60, TNF-R-I, CD120a, TNF-R55	uc001qnu.3	P19438	OTTHUMG00000168267	ENST00000162749.2:c.1176C>T	12.37:g.6438670G>A						TNFRSF1A_ENST00000540022.1_Silent_p.N349N	p.N392N	NM_001065.3	NP_001056.1	P19438	TNR1A_HUMAN			10	1475	-			392			Death.		A8K4X3|B2RDE4|B3KPQ1|B4DQB7|B4E309|B5M0B5|D3DUR1|Q9UCA4	Silent	SNP	ENST00000162749.2	37	c.1176C>T	CCDS8542.1																																																																																				0.701	TNFRSF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399038.1	NM_001065		5	16	0	0	0	1	0	5	16					A	6438670	G	A	6438670	2	1	286	1	0	0	0	0	0	0	0	1	16290	1136	40	1		1	TNFRSF1A	12	6438670	Silent	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	276847	6438670	127413225	401	13531											
VAMP1	6843	broad.mit.edu	37	chr12	6579696	6579697	+	Splice_Site	INS	-	-	T																															cacaccagagtcaactcacaINStttttctgacagagagagtg																										TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr12:6579696_6579697insT	ENST00000396308.3	-	1	146_147	c.1_2insA	c.(1-3)atg>aAtg	p.M1fs	VAMP1_ENST00000535180.1_Splice_Site_p.M1fs|VAMP1_ENST00000400911.3_Splice_Site_p.M1fs|VAMP1_ENST00000544432.1_5'UTR|VAMP1_ENST00000361716.3_Splice_Site_p.M1fs	NM_014231.3|NM_199245.1	NP_055046.1|NP_954740.1	P23763	VAMP1_HUMAN	vesicle-associated membrane protein 1 (synaptobrevin 1)	1					neurotransmitter secretion (GO:0007269)|SNARE complex assembly (GO:0035493)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cell surface (GO:0009986)|endocytic vesicle membrane (GO:0030666)|integral component of plasma membrane (GO:0005887)|mitochondrial outer membrane (GO:0005741)|neuron projection (GO:0043005)|synapse (GO:0045202)				endometrium(1)|large_intestine(1)|prostate(1)	3					Botulinum Toxin Type B(DB00042)	GTCAACTCACATTTTTCTGACA	0.609																																						ENST00000361716.3																			0				endometrium(1)|large_intestine(1)|prostate(1)	3						c.e1+1		vesicle-associated membrane protein 1 (synaptobrevin 1)	Botulinum Toxin Type B(DB00042)																																			SO:0001630	splice_region_variant	0				neurotransmitter secretion|vesicle-mediated transport	cell junction|endocytic vesicle membrane|integral to plasma membrane|mitochondrial outer membrane|synaptic vesicle membrane|synaptosome	protein binding	g.chr12:6579696_6579697insT		CCDS31731.1, CCDS41740.1, CCDS44809.1, CCDS73422.1	12p	2013-02-13			ENSG00000139190	ENSG00000139190		"Vesicle-associated membrane proteins"	12642	protein-coding gene	gene with protein product		185880		SYB1		1976629	Standard	XM_006719011		Approved	VAMP-1	uc001qok.3	P23763	OTTHUMG00000168269	ENST00000396308.3:c.2+1->A	12.37:g.6579701_6579701dupT						VAMP1_ENST00000396308.3_Splice_Site_p.V1_splice|VAMP1_ENST00000535180.1_Splice_Site_p.V1_splice|VAMP1_ENST00000400911.3_Splice_Site_p.V1_splice|VAMP1_ENST00000544432.1_5'UTR	p.V1_splice			P23763	VAMP1_HUMAN			1	456_457	-			1					A8MVP3|D3DUR3|O75468|Q15857|Q6FG94|Q8IVC9	Splice_Site	INS	ENST00000396308.3	37	c.2_splice	CCDS41740.1																																																																																				0.609	VAMP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399078.1		Frame_Shift_Ins	7	42						7	42	---	---	---	---	T	6579697	-	T	6579696	8	5	286	1	0	1	1	0	0	0	1	0	17109	231	8	0	403	0	VAMP1	12	6579696	Splice_Site	INS	-	TCGA-J9-A52C-01A-11D-A26M-08	141026	6579696	127272199	402	13532											
PLCZ1	93661	broad.mit.edu	37	chr12	18889199	18889199	+	5'Flank	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ataactgcaccgaatatctaAtttttcaagtaacctctgag	14	13	5	9	1	3	1	1	1	2	0	3	2	3	1	2	0	3	2	2	0	6	6			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr12:18889199A>T	ENST00000317658.3	+	0	0				PLCZ1_ENST00000539875.1_Missense_Mutation_p.L31I|PLCZ1_ENST00000266505.7_Missense_Mutation_p.L31I|RP11-361I14.2_ENST00000536931.1_RNA|PLCZ1_ENST00000447925.2_Missense_Mutation_p.L29I|PLCZ1_ENST00000435379.1_Missense_Mutation_p.L29I	NM_033328.2	NP_201585.1	Q96KX2	CAZA3_HUMAN	capping protein (actin filament) muscle Z-line, alpha 3						actin cytoskeleton organization (GO:0030036)|actin filament capping (GO:0051693)|spermatid development (GO:0007286)	acrosomal vesicle (GO:0001669)|cortical cytoskeleton (GO:0030863)|F-actin capping protein complex (GO:0008290)|membrane (GO:0016020)|nucleus (GO:0005634)|WASH complex (GO:0071203)				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|prostate(1)	19	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)	Hepatocellular(102;0.194)				CGAATATCTAATTTTTCAAGT	0.353																																						ENST00000266505.7																			0				NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	31						c.(91-93)Tta>Ata		phospholipase C, zeta 1							90	91	91					12																	18889199		2203	4300	6503	SO:0001631	upstream_gene_variant	89869				intracellular signal transduction|lipid catabolic process|multicellular organismal development	nucleus|perinuclear region of cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr12:18889199A>T	AB053259	CCDS8681.1	12p12.3	2008-02-05			ENSG00000177938	ENSG00000177938			24205	protein-coding gene	gene with protein product		608722				12029070	Standard	NM_033328		Approved	Gsg3, CAPPA3	uc001rdy.3	Q96KX2	OTTHUMG00000169001		12.37:g.18889199A>T	Exception_encountered					PLCZ1_ENST00000435379.1_Missense_Mutation_p.L29I|PLCZ1_ENST00000539875.1_Missense_Mutation_p.L31I|PLCZ1_ENST00000447925.2_Missense_Mutation_p.L29I|RP11-361I14.2_ENST00000536931.1_RNA	p.L31I			Q86YW0	PLCZ1_HUMAN			3	354	-	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)		31					Q969J0	Missense_Mutation	SNP	ENST00000317658.3	37	c.91T>A	CCDS8681.1	.	.	.	.	.	.	.	.	.	.	A	9.947	1.219212	0.22373	.	.	ENSG00000139151	ENST00000266505;ENST00000447925;ENST00000435379;ENST00000539875;ENST00000539072	T;T;T;T;T	0.51071	0.72;0.72;1.71;1.7;0.72	5.5	2.76	0.32466	EF-hand-like domain (1);	0.147371	0.29021	N	0.013382	T	0.35624	0.0938	L	0.59436	1.845	0.80722	D	1	P	0.39282	0.666	B	0.35039	0.194	T	0.08638	-1.0712	10	0.29301	T	0.29	.	5.1325	0.14917	0.5373:0.0:0.4627:0.0	.	31	Q86YW0	PLCZ1_HUMAN	I	31;29;29;31;51	ENSP00000266505:L31I;ENSP00000402358:L29I;ENSP00000400504:L29I;ENSP00000445026:L31I;ENSP00000438629:L51I	ENSP00000266505:L31I	L	-	1	2	PLCZ1	18780466	0.996000	0.38824	0.977000	0.42913	0.935000	0.57460	0.563000	0.23547	0.726000	0.32339	0.260000	0.18958	TTA		0.353	CAPZA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401902.1	NM_033328		6	29	0	0	0	1	0	6	29					T	18889199	A	T	18889199	1	4	286	0	1	0	0	0	0	0	0	0	12044	98	4	5		5	PLCZ1	12	18889199	5'Flank	SNP	A	TCGA-J9-A52C-01A-11D-A26M-08	12309503	18889199	114962696	403	13533											
H3F3C	440093	broad.mit.edu	37	chr12	31944698	31944699	+	Frame_Shift_Del	DEL	CT	CT	-																															aaaaactgccttcacttaagCtctctctccccgtatccggc																										TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr12:31944698_31944699delCT	ENST00000340398.3	-	1	476_477	c.402_403delAG	c.(400-405)agagctfs	p.RA134fs		NM_001013699.2	NP_001013721.2	Q6NXT2	H3C_HUMAN	H3 histone, family 3C	134					positive regulation of cell growth (GO:0030307)	nuclear euchromatin (GO:0005719)|nucleosome (GO:0000786)	nucleosomal DNA binding (GO:0031492)			endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|skin(2)|upper_aerodigestive_tract(2)	18						TTCACTTAAGCTCTCTCTCCCC	0.406										HNSCC(67;0.2)																												ENST00000340398.3																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|skin(2)|upper_aerodigestive_tract(2)	18						c.(400-405)agctfs		H3 histone, family 3C																																				SO:0001589	frameshift_variant	440093				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr12:31944698_31944699delCT	BC066906	CCDS31769.1	12p11.21	2012-02-15			ENSG00000188375	ENSG00000188375		"Histones / Replication-independent"	33164	protein-coding gene	gene with protein product						21274551	Standard	NM_001013699		Approved	H3.5	uc001rkr.3	Q6NXT2	OTTHUMG00000157811	ENST00000340398.3:c.402_403delAG	12.37:g.31944704_31944705delCT	ENSP00000339835:p.Arg134fs	HNSCC(67;0.2)					p.RA134fs	NM_001013699.2	NP_001013721.2	Q6NXT2	H3C_HUMAN			1	476_477	-			134					E9P281	Frame_Shift_Del	DEL	ENST00000340398.3	37	c.402_403delAG	CCDS31769.1																																																																																				0.406	H3F3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349653.1	NM_001013699		12	68						12	68	---	---	---	---	-	31944699	CT	-	31944698	7	5	286	1	0	1	0	1	0	0	0	0	6935	797	28	0	8	0	H3F3C	12	31944698	Frame_Shift_Del	DEL	CT	TCGA-J9-A52C-01A-11D-A26M-08	13055499	31944698	101907197	404	13534											
BICD1	636	broad.mit.edu	37	chr12	32458878	32458878	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	actcaaatttgccgaggatgGgagtgaaccaaacaatgatg	15	8	11	7	1	1	2	1	2	0	0	1	5	1	4	2	2	3	0	2	2	4	1			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr12:32458878G>T	ENST00000281474.5	+	4	930	c.827G>T	c.(826-828)gGg>gTg	p.G276V	BICD1_ENST00000548411.1_Missense_Mutation_p.G276V	NM_001714.2	NP_001705.2	Q96G01	BICD1_HUMAN	bicaudal D homolog 1 (Drosophila)	276					anatomical structure morphogenesis (GO:0009653)|intracellular mRNA localization (GO:0008298)|microtubule anchoring at microtubule organizing center (GO:0072393)|minus-end-directed organelle transport along microtubule (GO:0072385)|negative regulation of phospholipase C activity (GO:1900275)|negative regulation of phospholipase C-activating G-protein coupled receptor signaling pathway (GO:1900737)|positive regulation of receptor-mediated endocytosis (GO:0048260)|protein localization to organelle (GO:0033365)|regulation of proteinase activated receptor activity (GO:1900276)|RNA processing (GO:0006396)|stress granule assembly (GO:0034063)|viral process (GO:0016032)	cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|host cell viral assembly compartment (GO:0072517)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network (GO:0005802)	cytoskeletal adaptor activity (GO:0008093)|dynactin binding (GO:0034452)|dynein binding (GO:0045502)|proteinase activated receptor binding (GO:0031871)|Rab GTPase binding (GO:0017137)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46	all_cancers(9;5.13e-11)|all_epithelial(9;2.71e-11)|all_lung(12;6.66e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0213)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)		OV - Ovarian serous cystadenocarcinoma(6;0.0201)			GCCGAGGATGGGAGTGAACCA	0.458																																						ENST00000548411.1																			0				NS(1)|breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						c.(826-828)gGg>gTg		bicaudal D homolog 1 (Drosophila)							118	110	113					12																	32458878		2203	4300	6503	SO:0001583	missense	636				anatomical structure morphogenesis|intracellular mRNA localization|microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule|positive regulation of receptor-mediated endocytosis|protein localization to organelle|RNA processing|stress granule assembly|viral reproduction	cytoplasmic vesicle|cytoskeleton|cytosol|host cell viral assembly compartment|membrane|perinuclear region of cytoplasm|trans-Golgi network	cytoskeletal adaptor activity|dynactin binding|dynein binding|proteinase activated receptor binding|Rab GTPase binding|structural constituent of cytoskeleton	g.chr12:32458878G>T	U90028	CCDS8726.1, CCDS44859.1	12p11.2-p11.1	2005-01-13	2001-11-28			ENSG00000151746			1049	protein-coding gene	gene with protein product		602204	"Bicaudal D (Drosophila) homolog 1"			9367685	Standard	NM_001714		Approved		uc001rku.3	Q96G01	OTTHUMG00000169307	ENST00000281474.5:c.827G>T	12.37:g.32458878G>T	ENSP00000281474:p.Gly276Val					BICD1_ENST00000281474.5_Missense_Mutation_p.G276V	p.G276V	NM_001003398.1	NP_001003398.1	Q96G01	BICD1_HUMAN	OV - Ovarian serous cystadenocarcinoma(6;0.0201)		4	1008	+	all_cancers(9;5.13e-11)|all_epithelial(9;2.71e-11)|all_lung(12;6.66e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0213)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)		276					A8K2C3|F8W113|O43892|O43893	Missense_Mutation	SNP	ENST00000281474.5	37	c.827G>T	CCDS8726.1	.	.	.	.	.	.	.	.	.	.	G	10.73	1.432019	0.25813	.	.	ENSG00000151746	ENST00000548411;ENST00000281474	T;T	0.42513	0.97;0.97	4.59	3.69	0.42338	.	0.643861	0.15430	N	0.262790	T	0.39963	0.1098	L	0.49350	1.555	0.41886	D	0.990343	B;B	0.25904	0.137;0.101	B;B	0.28011	0.085;0.061	T	0.23261	-1.0193	10	0.28530	T	0.3	.	15.0634	0.71973	0.0:0.2674:0.7326:0.0	.	276;276	F8W113;Q96G01	.;BICD1_HUMAN	V	276	ENSP00000446793:G276V;ENSP00000281474:G276V	ENSP00000281474:G276V	G	+	2	0	BICD1	32350145	0.996000	0.38824	0.240000	0.24138	0.946000	0.59487	2.002000	0.40835	1.289000	0.44618	0.650000	0.86243	GGG		0.458	BICD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403380.1	NM_001714		7	31	1	0	1.76689e-08	1	1.80665e-08	7	31					T	32458878	G	T	32458878	3	4	286	1	0	0	0	0	1	0	0	0	1428	1232	43	5	841	5	BICD1	12	32458878	Missense_Mutation	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	514180	32458878	101393017	405	13535											
SLC2A13	114134	broad.mit.edu	37	chr12	40223918	40223918	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gatatacctgccccaggctgCctcatttgtagatgctttat	8	14	8	11	0	1	1	1	0	0	1	1	2	1	1	4	1	4	3	4	1	4	6			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr12:40223918C>T	ENST00000280871.4	-	7	1482	c.1432G>A	c.(1432-1434)Gca>Aca	p.A478T		NM_052885.3	NP_443117.3	Q96QE2	MYCT_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 13	478					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	substrate-specific transmembrane transporter activity (GO:0022891)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	29		Lung NSC(34;0.105)|all_lung(34;0.123)				CCCCAGGCTGCCTCATTTGTA	0.378										HNSCC(50;0.14)																												ENST00000280871.4																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	29						c.(1432-1434)Gca>Aca		solute carrier family 2 (facilitated glucose transporter), member 13							103	98	100					12																	40223918		2203	4300	6503	SO:0001583	missense	114134					integral to membrane|plasma membrane	myo-inositol:hydrogen symporter activity	g.chr12:40223918C>T	AJ315644	CCDS8736.2	12q12	2013-05-22			ENSG00000151229	ENSG00000151229		"Solute carriers"	15956	protein-coding gene	gene with protein product	"H(+)-myo-inositol symporter"	611036				11500374	Standard	NM_052885		Approved	HMIT	uc010skm.2	Q96QE2	OTTHUMG00000059743	ENST00000280871.4:c.1432G>A	12.37:g.40223918C>T	ENSP00000280871:p.Ala478Thr	HNSCC(50;0.14)					p.A478T	NM_052885.3	NP_443117.3	Q96QE2	MYCT_HUMAN			7	1482	-		Lung NSC(34;0.105)|all_lung(34;0.123)	478					Q17S07	Missense_Mutation	SNP	ENST00000280871.4	37	c.1432G>A	CCDS8736.2	.	.	.	.	.	.	.	.	.	.	C	19.46	3.832694	0.71258	.	.	ENSG00000151229	ENST00000280871	D	0.82255	-1.59	5.72	5.72	0.89469	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.111670	0.64402	D	0.000010	D	0.83403	0.5247	M	0.72118	2.19	0.80722	D	1	B	0.24823	0.112	B	0.27715	0.082	T	0.78853	-0.2040	10	0.29301	T	0.29	-16.0386	18.6262	0.91340	0.0:1.0:0.0:0.0	.	478	Q96QE2	MYCT_HUMAN	T	478	ENSP00000280871:A478T	ENSP00000280871:A478T	A	-	1	0	SLC2A13	38510185	1.000000	0.71417	0.998000	0.56505	0.987000	0.75469	6.220000	0.72237	2.702000	0.92279	0.591000	0.81541	GCA		0.378	SLC2A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132849.2			5	22	0	0	0	1	0	5	22					T	40223918	C	T	40223918	3	4	286	1	0	0	0	0	1	0	0	0	14542	739	26	3	530	3	SLC2A13	12	40223918	Missense_Mutation	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	7765040	40223918	93627977	406	13536											
LRRK2	120892	broad.mit.edu	37	chr12	40653340	40653340	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aaatactaacagttatgaaaCgtcatgagacatcattacca	18	10	5	8	1	2	2	2	2	0	1	2	3	2	2	1	0	4	1	1	0	6	4	rs199954611		TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr12:40653340C>T	ENST00000298910.7	+	13	1535	c.1477C>T	c.(1477-1479)Cgt>Tgt	p.R493C	LRRK2_ENST00000343742.2_Missense_Mutation_p.R493C	NM_198578.3	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	493					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|autophagy (GO:0006914)|cellular protein localization (GO:0034613)|cellular response to dopamine (GO:1903351)|cellular response to manganese ion (GO:0071287)|cellular response to oxidative stress (GO:0034599)|determination of adult lifespan (GO:0008340)|endocytosis (GO:0006897)|exploration behavior (GO:0035640)|GTP catabolic process (GO:0006184)|intracellular distribution of mitochondria (GO:0048312)|intracellular signal transduction (GO:0035556)|locomotory exploration behavior (GO:0035641)|MAPK cascade (GO:0000165)|negative regulation of GTPase activity (GO:0034260)|negative regulation of hydrogen peroxide-induced cell death (GO:1903206)|negative regulation of late endosome to lysosome transport (GO:1902823)|negative regulation of peroxidase activity (GO:2000469)|negative regulation of protein binding (GO:0032091)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein processing (GO:0010955)|negative regulation of protein processing involved in protein targeting to mitochondrion (GO:1903217)|negative regulation of protein targeting to mitochondrion (GO:1903215)|negative regulation of thioredoxin peroxidase activity by peptidyl-threonine phosphorylation (GO:1903125)|neuromuscular junction development (GO:0007528)|neuron death (GO:0070997)|neuron projection morphogenesis (GO:0048812)|olfactory bulb development (GO:0021772)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of autophagy (GO:0010508)|positive regulation of dopamine receptor signaling pathway (GO:0060161)|positive regulation of GTPase activity (GO:0043547)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of programmed cell death (GO:0043068)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein autoubiquitination (GO:1902499)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination (GO:0031398)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reactive oxygen species metabolic process (GO:0072593)|regulation of branching morphogenesis of a nerve (GO:2000172)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of dopamine receptor signaling pathway (GO:0060159)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of kidney size (GO:0035564)|regulation of locomotion (GO:0040012)|regulation of membrane potential (GO:0042391)|regulation of mitochondrial depolarization (GO:0051900)|regulation of neuroblast proliferation (GO:1902692)|regulation of neuron death (GO:1901214)|regulation of neuron maturation (GO:0014041)|regulation of protein kinase A signaling (GO:0010738)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of synaptic vesicle exocytosis (GO:2000300)|regulation of synaptic vesicle transport (GO:1902803)|response to oxidative stress (GO:0006979)|small GTPase mediated signal transduction (GO:0007264)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytoplasmic side of mitochondrial outer membrane (GO:0032473)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite (GO:0030425)|dendrite cytoplasm (GO:0032839)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|inclusion body (GO:0016234)|lysosome (GO:0005764)|membrane raft (GO:0045121)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)|terminal bouton (GO:0043195)|trans-Golgi network (GO:0005802)	actin binding (GO:0003779)|ATP binding (GO:0005524)|clathrin binding (GO:0030276)|glycoprotein binding (GO:0001948)|GTP binding (GO:0005525)|GTP-dependent protein kinase activity (GO:0034211)|GTPase activator activity (GO:0005096)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|kinase activity (GO:0016301)|MAP kinase kinase activity (GO:0004708)|peroxidase inhibitor activity (GO:0036479)|protein homodimerization activity (GO:0042803)|protein kinase A binding (GO:0051018)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|Rho GTPase binding (GO:0017048)|SNARE binding (GO:0000149)|syntaxin-1 binding (GO:0017075)|tubulin binding (GO:0015631)			NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				AGTTATGAAACGTCATGAGAC	0.413																																						ENST00000298910.7																			0				NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181						c.(1477-1479)Cgt>Tgt		leucine-rich repeat kinase 2		C	CYS/ARG	0,4406		0,0,2203	125	119	121		1477	3.3	0.6	12		121	3,8597	3.0+/-9.4	0,3,4297	yes	missense	LRRK2	NM_198578.3	180	0,3,6500	TT,TC,CC		0.0349,0.0,0.0231	benign	493/2528	40653340	3,13003	2203	4300	6503	SO:0001583	missense	120892				activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding	g.chr12:40653340C>T	AK026776	CCDS31774.1	12q12	2011-07-21			ENSG00000188906	ENSG00000188906		"Parkinson disease"	18618	protein-coding gene	gene with protein product		609007	"Parkinson disease (autosomal dominant) 8"	PARK8		15541308	Standard	NM_198578		Approved	ROCO2, DKFZp434H2111, FLJ45829, RIPK7	uc001rmg.4	Q5S007	OTTHUMG00000059742	ENST00000298910.7:c.1477C>T	12.37:g.40653340C>T	ENSP00000298910:p.Arg493Cys					LRRK2_ENST00000343742.2_Missense_Mutation_p.R493C	p.R493C	NM_198578.3	NP_940980.3	Q5S007	LRRK2_HUMAN			13	1535	+	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)	493					A6NJU2|Q6ZS50|Q8NCX9	Missense_Mutation	SNP	ENST00000298910.7	37	c.1477C>T	CCDS31774.1	.	.	.	.	.	.	.	.	.	.	C	13.13	2.144178	0.37825	0.0	3.49E-4	ENSG00000188906	ENST00000416796;ENST00000343742;ENST00000298910	T;T;T	0.35421	2.73;1.31;1.31	5.69	3.27	0.37495	Armadillo-like helical (1);Armadillo-type fold (1);	0.560039	0.20566	N	0.089810	T	0.18718	0.0449	N	0.22421	0.69	0.29552	N	0.851279	B;P	0.41450	0.013;0.75	B;B	0.30401	0.002;0.115	T	0.09796	-1.0658	10	0.54805	T	0.06	.	7.0875	0.25266	0.7736:0.1489:0.0774:0.0	.	493;493	E9PC85;Q5S007	.;LRRK2_HUMAN	C	241;493;493	ENSP00000398726:R241C;ENSP00000341930:R493C;ENSP00000298910:R493C	ENSP00000298910:R493C	R	+	1	0	LRRK2	38939607	0.852000	0.29690	0.597000	0.28824	0.788000	0.44548	1.427000	0.34881	0.401000	0.25424	-0.265000	0.10407	CGT		0.413	LRRK2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277179.1	XM_058513		5	49	0	0	0	1	0	5	49					T	40653340	C	T	40653340	3	4	286	1	0	0	0	0	1	0	0	0	9033	536	19	1	1527	1	LRRK2	12	40653340	Missense_Mutation	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	429422	40653340	93198555	407	13537											
DDN	23109	broad.mit.edu	37	chr12	49391305	49391305	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtggcgtcaatgacaaagaCgccttccccacgggacaggc	10	5	12	14	4	1	2	1	1	0	1	2	3	2	3	3	3	0	0	3	3	2	1			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr12:49391305C>T	ENST00000421952.2	-	2	1375	c.1354G>A	c.(1354-1356)Gtc>Atc	p.V452I	RP11-386G11.3_ENST00000549516.1_RNA|RP11-386G11.5_ENST00000547866.1_RNA|RP11-386G11.5_ENST00000552284.1_RNA|RP11-386G11.5_ENST00000552933.1_RNA|RP11-386G11.5_ENST00000547395.1_RNA	NM_015086.1	NP_055901.2	O94850	DEND_HUMAN	dendrin	452	Interaction with CD2AP and NPHS1. {ECO:0000250}.					cell projection (GO:0042995)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|stomach(1)	8						ATGACAAAGACGCCTTCCCCA	0.642																																						ENST00000421952.2																			0				NS(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|stomach(1)	8						c.(1354-1356)Gtc>Atc		dendrin							62	62	62					12																	49391305		2203	4300	6503	SO:0001583	missense	23109					dendritic spine membrane|endoplasmic reticulum membrane|nucleus|perikaryon		g.chr12:49391305C>T	AB018292	CCDS31791.2	12q13	2008-02-05			ENSG00000181418	ENSG00000181418			24458	protein-coding gene	gene with protein product		610588					Standard	NM_015086		Approved	KIAA0749	uc001rsv.1	O94850	OTTHUMG00000156183	ENST00000421952.2:c.1354G>A	12.37:g.49391305C>T	ENSP00000390590:p.Val452Ile						p.V452I	NM_015086.1	NP_055901.2	O94850	DEND_HUMAN			2	1375	-			452			Interaction with CD2AP and NPHS1 (By similarity).			Missense_Mutation	SNP	ENST00000421952.2	37	c.1354G>A	CCDS31791.2	.	.	.	.	.	.	.	.	.	.	c	8.757	0.922593	0.18056	.	.	ENSG00000181418	ENST00000421952	T	0.50001	0.76	3.99	1.13	0.20643	.	0.369043	0.19837	N	0.104949	T	0.23410	0.0566	N	0.19112	0.55	0.23425	N	0.997703	B	0.22983	0.078	B	0.15052	0.012	T	0.11767	-1.0574	10	0.15499	T	0.54	-29.9197	3.6641	0.08249	0.0:0.4817:0.189:0.3293	.	452	O94850	DEND_HUMAN	I	452	ENSP00000390590:V452I	ENSP00000390590:V452I	V	-	1	0	DDN	47677572	0.750000	0.28316	0.979000	0.43373	0.616000	0.37450	0.130000	0.15850	0.255000	0.21593	0.486000	0.48141	GTC		0.642	DDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343335.1			16	94	0	0	0	1	0	16	94					T	49391305	C	T	49391305	3	4	286	1	0	0	0	0	1	0	0	0	4333	536	19	1	785	1	DDN	12	49391305	Missense_Mutation	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	8737965	49391305	84460590	408	13538											
MLL2	8085	broad.mit.edu	37	chr12	49434174	49434174	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaatggggcaaatgggtcaCgggactgagggcgtgagggt	9	6	20	6	2	1	2	1	2	0	0	1	3	1	3	0	6	0	2	0	6	2	0			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr12:49434174C>A	ENST00000301067.7	-	31	7378	c.7379G>T	c.(7378-7380)cGt>cTt	p.R2460L		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	2460	Pro-rich.		R -> C. {ECO:0000269|PubMed:21280141}.		chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)										AAATGGGTCACGGGACTGAGG	0.632																																						ENST00000301067.7																			0											c.(7378-7380)cGt>cTt		lysine (K)-specific methyltransferase 2D							44	50	48					12																	49434174		1990	4153	6143	SO:0001583	missense	8085							g.chr12:49434174C>A	AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	7133	protein-coding gene	gene with protein product		602113	"trinucleotide repeat containing 21", "myeloid/lymphoid or mixed-lineage leukemia 2"	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.7379G>T	12.37:g.49434174C>A	ENSP00000301067:p.Arg2460Leu						p.R2460L	NM_003482.3	NP_003473.3					31	7378	-								O14687	Missense_Mutation	SNP	ENST00000301067.7	37	c.7379G>T	CCDS44873.1	.	.	.	.	.	.	.	.	.	.	C	11.32	1.603103	0.28534	.	.	ENSG00000167548	ENST00000301067	T	0.80123	-1.34	5.21	5.21	0.72293	.	0.000000	0.37761	N	0.001943	D	0.84822	0.5557	L	0.43152	1.355	0.34900	D	0.746379	D	0.65815	0.995	P	0.59357	0.856	D	0.89377	0.3679	10	0.87932	D	0	.	17.9117	0.88936	0.0:1.0:0.0:0.0	.	2460	O14686	MLL2_HUMAN	L	2460	ENSP00000301067:R2460L	ENSP00000301067:R2460L	R	-	2	0	MLL2	47720441	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.683000	0.54663	2.596000	0.87737	0.591000	0.81541	CGT		0.632	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2			17	74	1	0	5.35267e-07	1	5.45012e-07	17	74					A	49434174	C	A	49434174	3	1	286	1	0	0	0	0	1	0	0	0	9621	536	19	5	9330	5	MLL2	12	49434174	Missense_Mutation	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	42869	49434174	84417721	409	13539											
MLL2	8085	broad.mit.edu	37	chr12	49442461	49442462	+	Frame_Shift_Del	DEL	TC	TC	-																															cctgcattaggacaaatttgTctgtgttggagaagagaacc																										TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr12:49442461_49442462delTC	ENST00000301067.7	-	13	4110_4111	c.4111_4112delGA	c.(4111-4113)gacfs	p.D1371fs		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	1371					chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)										GACAAATTTGTCTGTGTTGGAG	0.465																																						ENST00000301067.7																			0											c.(4111-4113)cfs		lysine (K)-specific methyltransferase 2D																																				SO:0001589	frameshift_variant	8085							g.chr12:49442461_49442462delTC	AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	7133	protein-coding gene	gene with protein product		602113	"trinucleotide repeat containing 21", "myeloid/lymphoid or mixed-lineage leukemia 2"	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.4111_4112delGA	12.37:g.49442461_49442462delTC	ENSP00000301067:p.Asp1371fs						p.D1371fs	NM_003482.3	NP_003473.3					13	4110_4111	-								O14687	Frame_Shift_Del	DEL	ENST00000301067.7	37	c.4111_4112delGA	CCDS44873.1																																																																																				0.465	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2			35	135						35	135	---	---	---	---	-	49442462	TC	-	49442461	7	5	286	1	0	1	0	1	0	0	0	0	9621	1667	58	0	12669	0	MLL2	12	49442461	Frame_Shift_Del	DEL	TC	TCGA-J9-A52C-01A-11D-A26M-08	8287	49442461	84409434	410	13540											
TUBA1A	7846	broad.mit.edu	37	chr12	49579134	49579134	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atccacaaactggatggtacGcttggtcttgatggtggcaa	10	11	12	8	1	1	1	0	1	1	0	2	2	2	2	1	5	2	3	1	5	3	3			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr12:49579134G>A	ENST00000295766.5	-	4	1494	c.1015C>T	c.(1015-1017)Cgt>Tgt	p.R339C	TUBA1A_ENST00000550767.1_Missense_Mutation_p.R304C|TUBA1A_ENST00000301071.7_Missense_Mutation_p.R339C	NM_001270399.1	NP_001257328.1	Q71U36	TBA1A_HUMAN	tubulin, alpha 1a	339					'de novo' posttranslational protein folding (GO:0051084)|cell division (GO:0051301)|cellular protein metabolic process (GO:0044267)|cytoskeleton-dependent intracellular transport (GO:0030705)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based process (GO:0007017)|mitotic cell cycle (GO:0000278)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytoplasmic microtubule (GO:0005881)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			stomach(1)|upper_aerodigestive_tract(1)	2					Albendazole(DB00518)|Mebendazole(DB00643)|Vinblastine(DB00570)	TGGATGGTACGCTTGGTCTTG	0.547																																					Pancreas(111;782 2307 24613 44561)|NSCLC(165;1667 2752 9496 39006)|Ovarian(19;24 776 10875 37451)	ENST00000301071.7																			0				stomach(1)|upper_aerodigestive_tract(1)	2						c.(1015-1017)Cgt>Tgt		tubulin, alpha 1a							115	93	101					12																	49579134		2203	4300	6503	SO:0001583	missense	7846				'de novo' posttranslational protein folding|G2/M transition of mitotic cell cycle|microtubule-based movement|protein polymerization	cytosol|microtubule	GTP binding|GTPase activity|structural molecule activity	g.chr12:49579134G>A	AF141347	CCDS8781.1, CCDS58226.1, CCDS58227.1	12q13.12	2007-02-07						"Tubulins"	20766	protein-coding gene	gene with protein product	"tubulin, alpha, brain-specific"	602529				11504633, 3839072	Standard	NM_006009		Approved	TUBA3, B-ALPHA-1, FLJ25113	uc010smg.1	Q71U36	OTTHUMG00000169511	ENST00000295766.5:c.1015C>T	12.37:g.49579134G>A	ENSP00000439020:p.Arg339Cys					TUBA1A_ENST00000550767.1_Missense_Mutation_p.R304C|TUBA1A_ENST00000295766.5_Missense_Mutation_p.R339C	p.R339C	NM_001270400.1|NM_006009.3	NP_001257329.1|NP_006000.2	Q71U36	TBA1A_HUMAN			4	1359	-			339					A8K0B8|G3V1U9|P04687|P05209	Missense_Mutation	SNP	ENST00000295766.5	37	c.1015C>T	CCDS58227.1	.	.	.	.	.	.	.	.	.	.	G	12.53	1.964486	0.34659	.	.	ENSG00000167552	ENST00000301071;ENST00000548405;ENST00000295766;ENST00000550767	D;D;D	0.84442	-1.85;-1.85;-1.85	5.1	5.1	0.69264	Tubulin/FtsZ, 2-layer sandwich domain (3);Tubulin/FtsZ, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.87136	0.6102	M	0.78456	2.415	0.80722	D	1	B	0.18741	0.03	B	0.28385	0.089	D	0.85719	0.1324	10	0.87932	D	0	.	17.3657	0.87363	0.0:0.0:1.0:0.0	.	339	Q71U36	TBA1A_HUMAN	C	339;186;339;304	ENSP00000301071:R339C;ENSP00000439020:R339C;ENSP00000446637:R304C	ENSP00000439020:R339C	R	-	1	0	TUBA1A	47865401	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.115000	0.64655	2.391000	0.81399	0.556000	0.70494	CGT		0.547	TUBA1A-002	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000404547.2	NM_006009		11	74	0	0	0	1	0	11	74					A	49579134	G	A	49579134	3	1	286	1	0	0	0	0	1	0	0	0	16740	1087	38	1	344	1	TUBA1A	12	49579134	Missense_Mutation	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	136673	49579134	84272761	411	13541											
DIP2B	57609	broad.mit.edu	37	chr12	51064979	51064979	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttccacacagacacatcttcGgcctctgaggatgagggctc	9	9	10	13	1	2	3	0	2	2	1	5	4	3	4	2	3	0	1	2	3	0	2			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr12:51064979G>A	ENST00000301180.5	+	5	472	c.438G>A	c.(436-438)tcG>tcA	p.S146S		NM_173602.2	NP_775873.2	Q9P265	DIP2B_HUMAN	DIP2 disco-interacting protein 2 homolog B (Drosophila)	146	Ser-rich.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	catalytic activity (GO:0003824)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(15)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	60						ACACATCTTCGGCCTCTGAGG	0.468																																						ENST00000301180.5																			0				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(15)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	60						c.(436-438)tcG>tcA		DIP2 disco-interacting protein 2 homolog B (Drosophila)							94	83	87					12																	51064979		2203	4300	6503	SO:0001819	synonymous_variant	57609					nucleus	catalytic activity|transcription factor binding	g.chr12:51064979G>A	AB040896	CCDS31799.1	12q13.12	2012-10-02	2006-01-13		ENSG00000066084	ENSG00000066084			29284	protein-coding gene	gene with protein product		611379					Standard	XM_005269044		Approved	KIAA1463, FLJ34278	uc001rwv.3	Q9P265	OTTHUMG00000169475	ENST00000301180.5:c.438G>A	12.37:g.51064979G>A							p.S146S	NM_173602.2	NP_775873.2	Q9P265	DIP2B_HUMAN			5	472	+			146			Ser-rich.		Q6B011|Q8N1L5|Q8NB38	Silent	SNP	ENST00000301180.5	37	c.438G>A	CCDS31799.1																																																																																				0.468	DIP2B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404243.1	NM_173602		5	51	0	0	0	1	0	5	51					A	51064979	G	A	51064979	2	1	286	1	0	0	0	0	0	0	0	1	4528	1103	39	2		2	DIP2B	12	51064979	Silent	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	1485845	51064979	82786916	412	13542											
KRT80	144501	broad.mit.edu	37	chr12	52567427	52567427	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcctccaggctgcgagccGcgacggcgtcatactgggcc	5	6	13	17	5	1	0	1	0	0	0	3	2	3	0	5	3	3	1	5	3	1	1	rs565212849		TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr12:52567427G>A	ENST00000394815.2	-	5	885	c.788C>T	c.(787-789)gCg>gTg	p.A263V	KRT80_ENST00000313234.5_Missense_Mutation_p.A263V	NM_182507.2	NP_872313.2	Q6KB66	K2C80_HUMAN	keratin 80	263	Coil 2.|Rod.					cytoplasm (GO:0005737)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			endometrium(2)|large_intestine(2)|lung(1)	5				BRCA - Breast invasive adenocarcinoma(357;0.108)		GCTGCGAGCCGCGACGGCGTC	0.657													G|||	1	0.000199681	8e-04	0	5008	,	,		17599	0		0	False		,,,				2504	0				GBM(178;2309 2916 15678 35873)	ENST00000313234.5																			0				endometrium(2)|large_intestine(2)|lung(1)	5						c.(787-789)gCg>gTg		keratin 80							80	74	76					12																	52567427		2203	4300	6503	SO:0001583	missense	144501					keratin filament	structural molecule activity	g.chr12:52567427G>A	BX537567	CCDS8821.2, CCDS41784.1	12q13.13	2013-01-16			ENSG00000167767	ENSG00000167767		"-", "Intermediate filaments type II, keratins (basic)"	27056	protein-coding gene	gene with protein product		611161				16831889	Standard	NM_001081492		Approved	KB20	uc001rzx.3	Q6KB66	OTTHUMG00000150193	ENST00000394815.2:c.788C>T	12.37:g.52567427G>A	ENSP00000378292:p.Ala263Val					KRT80_ENST00000394815.2_Missense_Mutation_p.A263V	p.A263V	NM_001081492.1	NP_001074961.1	Q6KB66	K2C80_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.108)	5	885	-			263			Coil 2.|Rod.		Q6P1A5|Q7Z3Q0	Missense_Mutation	SNP	ENST00000394815.2	37	c.788C>T	CCDS8821.2	.	.	.	.	.	.	.	.	.	.	G	13.17	2.156807	0.38119	.	.	ENSG00000167767	ENST00000313234;ENST00000394815	D;D	0.89681	-2.55;-2.55	4.23	2.36	0.29203	Filament (1);	0.000000	0.37761	N	0.001948	D	0.89921	0.6855	M	0.93150	3.385	0.41415	D	0.987764	P;P;P	0.41710	0.489;0.545;0.76	B;B;B	0.36030	0.138;0.216;0.191	D	0.89199	0.3556	10	0.66056	D	0.02	.	10.8036	0.46504	0.1578:0.0:0.8422:0.0	.	263;263;298	Q6KB66-2;Q6KB66;Q6KB66-3	.;K2C80_HUMAN;.	V	263	ENSP00000369361:A263V;ENSP00000378292:A263V	ENSP00000369361:A263V	A	-	2	0	KRT80	50853694	0.991000	0.36638	0.567000	0.28434	0.214000	0.24535	3.337000	0.52120	0.534000	0.28695	0.561000	0.74099	GCG		0.657	KRT80-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000316757.1	NM_182507		19	89	0	0	0	1	0	19	89					A	52567427	G	A	52567427	3	1	286	1	0	0	0	0	1	0	0	0	8494	1087	38	1	625	1	KRT80	12	52567427	Missense_Mutation	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	1502448	52567427	81284468	413	13543											
KRT80	144501	broad.mit.edu	37	chr12	52574746	52574746	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cttggagatctcatcctcatAcctgggagggagagaggggt	9	9	15	8	0	2	2	2	0	1	2	4	6	3	4	2	5	1	0	2	5	1	2			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr12:52574746A>G	ENST00000394815.2	-	3	608	c.511T>C	c.(511-513)Tat>Cat	p.Y171H	KRT80_ENST00000313234.5_Splice_Site_p.Y171H	NM_182507.2	NP_872313.2	Q6KB66	K2C80_HUMAN	keratin 80	171	Coil 1B.|Rod.					cytoplasm (GO:0005737)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			endometrium(2)|large_intestine(2)|lung(1)	5				BRCA - Breast invasive adenocarcinoma(357;0.108)		TCATCCTCATACCTGGGAGGG	0.602																																					GBM(178;2309 2916 15678 35873)	ENST00000313234.5																			0				endometrium(2)|large_intestine(2)|lung(1)	5						c.e3-1		keratin 80							46	41	43					12																	52574746		2203	4300	6503	SO:0001630	splice_region_variant	144501					keratin filament	structural molecule activity	g.chr12:52574746A>G	BX537567	CCDS8821.2, CCDS41784.1	12q13.13	2013-01-16			ENSG00000167767	ENSG00000167767		"-", "Intermediate filaments type II, keratins (basic)"	27056	protein-coding gene	gene with protein product		611161				16831889	Standard	NM_001081492		Approved	KB20	uc001rzx.3	Q6KB66	OTTHUMG00000150193	ENST00000394815.2:c.510-1T>C	12.37:g.52574746A>G						KRT80_ENST00000394815.2_Splice_Site_p.Y171_splice	p.Y171_splice	NM_001081492.1	NP_001074961.1	Q6KB66	K2C80_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.108)	3	608	-			171			Coil 1B.|Rod.		Q6P1A5|Q7Z3Q0	Splice_Site	SNP	ENST00000394815.2	37	c.509_splice	CCDS8821.2	.	.	.	.	.	.	.	.	.	.	A	17.27	3.347863	0.61183	.	.	ENSG00000167767	ENST00000313234;ENST00000394815	D;D	0.93659	-3.26;-3.26	3.76	3.76	0.43208	Filament (1);	0.000000	0.30285	N	0.009964	D	0.97216	0.9090	M	0.93283	3.4	0.40121	D	0.9766	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.998;0.999;0.999	D	0.98221	1.0478	10	0.87932	D	0	.	12.695	0.56999	1.0:0.0:0.0:0.0	.	171;171;108	Q6KB66-2;Q6KB66;Q6KB66-3	.;K2C80_HUMAN;.	H	171	ENSP00000369361:Y171H;ENSP00000378292:Y171H	ENSP00000369361:Y171H	Y	-	1	0	KRT80	50861013	1.000000	0.71417	1.000000	0.80357	0.511000	0.34104	8.651000	0.91078	1.942000	0.56320	0.379000	0.24179	TAT		0.602	KRT80-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000316757.1	NM_182507	Missense_Mutation	9	33	0	0	0	1	0	9	33					G	52574746	A	G	52574746	5	3	286	1	0	0	0	0	0	0	1	0	8494	405	14	4	910	4	KRT80	12	52574746	Splice_Site	SNP	A	TCGA-J9-A52C-01A-11D-A26M-08	7319	52574746	81277149	414	13544											
KRT77	374454	broad.mit.edu	37	chr12	53086233	53086233	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctcgccctccagcagctggcGgtaggtggcgatctccacat	6	8	12	15	3	1	0	0	0	1	0	4	1	2	0	3	4	2	3	3	4	1	1			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr12:53086233G>A	ENST00000341809.3	-	7	1427	c.1399C>T	c.(1399-1401)Cgc>Tgc	p.R467C	KRT77_ENST00000537195.1_Missense_Mutation_p.R234C|RP11-641A6.3_ENST00000547533.1_RNA	NM_175078.2	NP_778253.2	Q7Z794	K2C1B_HUMAN	keratin 77	467	Coil 2.|Rod.					cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)	p.R467S(1)		NS(2)|endometrium(2)|large_intestine(3)|lung(11)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25						AGCAGCTGGCGGTAGGTGGCG	0.632																																						ENST00000341809.3																			1	Substitution - Missense(1)	p.R467S(1)	lung(1)	NS(2)|endometrium(2)|large_intestine(3)|lung(11)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25						c.(1399-1401)Cgc>Tgc		keratin 77							53	46	49					12																	53086233		2203	4299	6502	SO:0001583	missense	374454					keratin filament	structural molecule activity	g.chr12:53086233G>A	BK000975	CCDS8837.1	12q13.13	2013-06-25	2006-07-17	2006-07-17	ENSG00000189182	ENSG00000189182		"-", "Intermediate filaments type II, keratins (basic)"	20411	protein-coding gene	gene with protein product		611158	"keratin 1B"	KRT1B		11683385, 16831889	Standard	NM_175078		Approved		uc001saw.3	Q7Z794	OTTHUMG00000169450	ENST00000341809.3:c.1399C>T	12.37:g.53086233G>A	ENSP00000342710:p.Arg467Cys					KRT77_ENST00000537195.1_Missense_Mutation_p.R234C	p.R467C	NM_175078.2	NP_778253.2	Q7Z794	K2C1B_HUMAN			7	1427	-			467			Coil 2.|Rod.		Q7RTS8	Missense_Mutation	SNP	ENST00000341809.3	37	c.1399C>T	CCDS8837.1	.	.	.	.	.	.	.	.	.	.	G	12.37	1.916707	0.33815	.	.	ENSG00000189182	ENST00000341809;ENST00000537195	D;D	0.94828	-3.53;-3.53	4.29	-1.72	0.08107	Filament (1);Intermediate filament protein, conserved site (1);	.	.	.	.	D	0.93099	0.7803	M	0.93462	3.42	0.39590	D	0.969569	B	0.33857	0.429	B	0.31290	0.127	D	0.87125	0.2193	9	0.72032	D	0.01	.	1.2809	0.02040	0.2559:0.0967:0.3511:0.2963	.	467	Q7Z794	K2C1B_HUMAN	C	467;234	ENSP00000342710:R467C;ENSP00000440803:R234C	ENSP00000342710:R467C	R	-	1	0	KRT77	51372500	0.998000	0.40836	0.832000	0.32986	0.478000	0.33099	0.579000	0.23788	-0.206000	0.10203	0.407000	0.27541	CGC		0.632	KRT77-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404111.1	NM_175078		13	63	0	0	0	1	0	13	63					A	53086233	G	A	53086233	3	1	286	1	0	0	0	0	1	0	0	0	8490	1116	39	2	349	2	KRT77	12	53086233	Missense_Mutation	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	511487	53086233	80765662	415	13545											
ESPL1	9700	broad.mit.edu	37	chr12	53663786	53663786	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggaacgaggcaccaagaggCgctatagacttgatgccatt	12	8	12	9	2	0	3	0	1	0	2	0	5	0	4	2	3	2	2	2	3	4	4	rs567786268		TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr12:53663786C>T	ENST00000257934.4	+	3	1151	c.1060C>T	c.(1060-1062)Cgc>Tgc	p.R354C	ESPL1_ENST00000552462.1_Missense_Mutation_p.R354C	NM_012291.4	NP_036423.4	Q14674	ESPL1_HUMAN	extra spindle pole bodies homolog 1 (S. cerevisiae)	354					apoptotic process (GO:0006915)|cytokinesis (GO:0000910)|establishment of mitotic spindle localization (GO:0040001)|homologous chromosome segregation (GO:0045143)|meiotic spindle organization (GO:0000212)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid segregation (GO:0000070)|negative regulation of sister chromatid cohesion (GO:0045875)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)	centrosome (GO:0005813)|cytosol (GO:0005829)|nucleus (GO:0005634)	catalytic activity (GO:0003824)|cysteine-type peptidase activity (GO:0008234)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(10)|large_intestine(12)|lung(21)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(8)	70						CACCAAGAGGCGCTATAGACT	0.537																																					Colon(53;1069 1201 2587 5382)	ENST00000257934.4																			0				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(10)|large_intestine(12)|lung(21)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(8)	70						c.(1060-1062)Cgc>Tgc		extra spindle pole bodies homolog 1 (S. cerevisiae)							92	96	95					12																	53663786		2203	4300	6503	SO:0001583	missense	9700				apoptosis|cytokinesis|establishment of mitotic spindle localization|mitotic sister chromatid segregation|negative regulation of sister chromatid cohesion|positive regulation of mitotic metaphase/anaphase transition|proteolysis	centrosome|nucleus	cysteine-type peptidase activity|protein binding	g.chr12:53663786C>T	D79987	CCDS8852.1	12q13.13	2014-08-04	2013-05-03		ENSG00000135476	ENSG00000135476	3.4.22.49		16856	protein-coding gene	gene with protein product	"separin", "separase", "separin, cysteine protease"	604143	"extra spindle poles like 1 (S. cerevisiae)"			8724849, 16258266	Standard	NM_012291		Approved	KIAA0165, ESP1, SEPA	uc001sck.2	Q14674	OTTHUMG00000169674	ENST00000257934.4:c.1060C>T	12.37:g.53663786C>T	ENSP00000257934:p.Arg354Cys					ESPL1_ENST00000552462.1_Missense_Mutation_p.R354C	p.R354C	NM_012291.4	NP_036423.4	Q14674	ESPL1_HUMAN			3	1151	+			354						Missense_Mutation	SNP	ENST00000257934.4	37	c.1060C>T	CCDS8852.1	.	.	.	.	.	.	.	.	.	.	C	8.992	0.977897	0.18812	.	.	ENSG00000135476	ENST00000257934;ENST00000552671;ENST00000552462	T;T	0.12147	2.71;2.71	5.41	1.04	0.20106	.	0.842078	0.10905	N	0.621243	T	0.06050	0.0157	N	0.08118	0	0.09310	N	1	B	0.10296	0.003	B	0.01281	0.0	T	0.43956	-0.9359	9	.	.	.	.	6.629	0.22847	0.1949:0.6125:0.0:0.1926	.	354	Q14674	ESPL1_HUMAN	C	354;29;354	ENSP00000257934:R354C;ENSP00000449831:R354C	.	R	+	1	0	ESPL1	51950053	0.000000	0.05858	0.003000	0.11579	0.470000	0.32858	0.063000	0.14410	0.359000	0.24239	0.561000	0.74099	CGC		0.537	ESPL1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406899.2	NM_012291		8	39	0	0	0	1	0	8	39					T	53663786	C	T	53663786	3	4	286	1	0	0	0	0	1	0	0	0	5253	768	27	1	1066	1	ESPL1	12	53663786	Missense_Mutation	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	577553	53663786	80188109	416	13546											
WIBG	84305	broad.mit.edu	37	chr12	56297223	56297223	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttcaccctccgctgcttgcGccaggtcccgtcaggtcgct	3	11	10	17	4	2	0	2	0	0	0	5	0	4	0	4	2	2	3	4	2	0	2			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr12:56297223G>A	ENST00000408946.2	-	2	230	c.79C>T	c.(79-81)Cgc>Tgc	p.R27C	WIBG_ENST00000302533.6_5'UTR|WIBG_ENST00000547925.1_Silent_p.G40G|WIBG_ENST00000557259.1_Silent_p.G39G|WIBG_ENST00000398213.4_Missense_Mutation_p.R26C	NM_032345.2	NP_115721.1	Q9BRP8	WIBG_HUMAN	within bgcn homolog (Drosophila)	27	Required for interaction with MAGOH and RBM8A.				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|positive regulation of translation (GO:0045727)	cytoplasm (GO:0005737)|exon-exon junction complex (GO:0035145)	poly(A) RNA binding (GO:0044822)|ribosome binding (GO:0043022)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	5						CGCTGCTTGCGCCAGGTCCCG	0.468																																						ENST00000408946.2																			0				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	5						c.(79-81)Cgc>Tgc		within bgcn homolog (Drosophila)							99	100	100					12																	56297223		1953	4141	6094	SO:0001583	missense	84305				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of translation	cytoplasm|exon-exon junction complex|nucleolus|nucleoplasm	protein binding|ribosome binding|RNA binding	g.chr12:56297223G>A	BC014976	CCDS41795.1, CCDS44916.1	12q13.2	2008-02-05				ENSG00000170473			30258	protein-coding gene	gene with protein product						12438415, 12483225	Standard	NM_032345		Approved	PYM	uc001sif.1	Q9BRP8	OTTHUMG00000170220	ENST00000408946.2:c.79C>T	12.37:g.56297223G>A	ENSP00000386156:p.Arg27Cys					WIBG_ENST00000302533.6_5'UTR|WIBG_ENST00000398213.4_Missense_Mutation_p.R26C|WIBG_ENST00000547925.1_Silent_p.G40G|WIBG_ENST00000557259.1_Silent_p.G39G	p.R27C	NM_032345.2	NP_115721.1	Q9BRP8	WIBG_HUMAN			2	230	-			27			Required for interaction with MAGOH and RBM8A.		B6ZDM5|Q8IXJ8|Q8N8E7	Missense_Mutation	SNP	ENST00000408946.2	37	c.79C>T	CCDS41795.1	.	.	.	.	.	.	.	.	.	.	G	24.7	4.561734	0.86335	.	.	ENSG00000170473	ENST00000408946;ENST00000398213	T;T	0.60424	0.19;0.19	5.35	4.41	0.53225	.	0.000000	0.85682	D	0.000000	T	0.77485	0.4137	M	0.87038	2.855	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.997	T	0.80935	-0.1160	10	0.87932	D	0	.	12.6181	0.56588	0.0:0.0:0.7309:0.2691	.	27;26	Q9BRP8;Q9BRP8-2	WIBG_HUMAN;.	C	27;26	ENSP00000386156:R27C;ENSP00000381271:R26C	ENSP00000381271:R26C	R	-	1	0	WIBG	54583490	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.508000	0.53378	2.691000	0.91804	0.650000	0.86243	CGC		0.468	WIBG-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000408079.1	NM_032345		9	55	0	0	0	1	0	9	55					A	56297223	G	A	56297223	3	1	286	1	0	0	0	0	1	0	0	0	17362	1087	38	1	543	1	WIBG	12	56297223	Missense_Mutation	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	2633437	56297223	77554672	417	13547											
ERBB3	2065	broad.mit.edu	37	chr12	56487295	56487295	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttcgggggcctacggaagagCgactagacatcaagcataat	13	7	12	9	3	1	2	1	0	0	2	2	4	1	3	1	3	3	1	1	3	5	4			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr12:56487295C>T	ENST00000267101.3	+	12	1881	c.1441C>T	c.(1441-1443)Cga>Tga	p.R481*	ERBB3_ENST00000553131.1_5'Flank|ERBB3_ENST00000415288.2_Nonsense_Mutation_p.R422*|ERBB3_ENST00000450146.2_Intron	NM_001982.3	NP_001973.2	P21860	ERBB3_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3	481					cranial nerve development (GO:0021545)|endocardial cushion development (GO:0003197)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|negative regulation of cell adhesion (GO:0007162)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of secretion (GO:0051048)|negative regulation of signal transduction (GO:0009968)|neuron apoptotic process (GO:0051402)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein tyrosine kinase activity (GO:0061098)|regulation of cell proliferation (GO:0042127)|Schwann cell differentiation (GO:0014037)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein tyrosine kinase activator activity (GO:0030296)|transmembrane signaling receptor activity (GO:0004888)			central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	8			OV - Ovarian serous cystadenocarcinoma(18;0.112)			TACGGAAGAGCGACTAGACAT	0.547																																						ENST00000267101.3																			0				central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	8						c.(1441-1443)Cga>Tga		v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3							73	72	73					12																	56487295		2203	4300	6503	SO:0001587	stop_gained	2065				cranial nerve development|heart development|negative regulation of cell adhesion|negative regulation of neuron apoptosis|negative regulation of secretion|negative regulation of signal transduction|neuron apoptosis|phosphatidylinositol 3-kinase cascade|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of cell proliferation|Schwann cell differentiation|transmembrane receptor protein tyrosine kinase signaling pathway|wound healing	basolateral plasma membrane|extracellular space|integral to plasma membrane|receptor complex	ATP binding|growth factor binding|protein heterodimerization activity|protein homodimerization activity|protein tyrosine kinase activator activity|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity	g.chr12:56487295C>T	M34309	CCDS31833.1, CCDS44918.1	12q13	2013-07-09	2013-07-09			ENSG00000065361			3431	protein-coding gene	gene with protein product		190151	"lethal congenital contracture syndrome 2"	LCCS2			Standard	NM_001982		Approved	HER3	uc001sjh.3	P21860	OTTHUMG00000170140	ENST00000267101.3:c.1441C>T	12.37:g.56487295C>T	ENSP00000267101:p.Arg481*					ERBB3_ENST00000450146.2_Intron|ERBB3_ENST00000415288.2_Nonsense_Mutation_p.R422*	p.R481*	NM_001982.3	NP_001973.2	P21860	ERBB3_HUMAN	OV - Ovarian serous cystadenocarcinoma(18;0.112)		12	1881	+			481					A8K6L6|B4DIK7|B4DV32|E9PDT8|Q9BUD7	Nonsense_Mutation	SNP	ENST00000267101.3	37	c.1441C>T	CCDS31833.1	.	.	.	.	.	.	.	.	.	.	C	40	8.135638	0.98670	.	.	ENSG00000065361	ENST00000267101;ENST00000415288	.	.	.	5.06	2.66	0.31614	.	0.079672	0.51477	D	0.000089	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.2891	0.43586	0.6638:0.3362:0.0:0.0	.	.	.	.	X	481;422	.	ENSP00000267101:R481X	R	+	1	2	ERBB3	54773562	1.000000	0.71417	0.966000	0.40874	0.962000	0.63368	2.513000	0.45494	0.383000	0.24910	-0.262000	0.10625	CGA		0.547	ERBB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407619.3			9	63	0	0	0	1	0	9	63					T	56487295	C	T	56487295	4	4	286	1	0	0	0	0	0	1	0	0	5208	760	27	1	1618	1	ERBB3	12	56487295	Nonsense_Mutation	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	190072	56487295	77364600	418	13548											
SMARCC2	6601	broad.mit.edu	37	chr12	56575853	56575853	+	Missense_Mutation	SNP	A	A	G																															aatttcactcgctgggatccAcgtgtcgtaactgccatggg																										TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr12:56575853A>G	ENST00000267064.4	-	8	729	c.643T>C	c.(643-645)Tgg>Cgg	p.W215R	RP11-977G19.5_ENST00000553176.1_RNA|SMARCC2_ENST00000347471.4_Missense_Mutation_p.W215R|SMARCC2_ENST00000550164.1_Missense_Mutation_p.W215R|SMARCC2_ENST00000394023.3_Missense_Mutation_p.W215R|SMARCC2_ENST00000550859.1_5'UTR	NM_003075.3	NP_003066.2	Q8TAQ2	SMRC2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2	215					ATP-dependent chromatin remodeling (GO:0043044)|chromatin remodeling (GO:0006338)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome disassembly (GO:0006337)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase II promoter involved in forebrain neuron fate commitment (GO:0021882)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)			breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(18;0.123)			GCTGGGATCCACGTGTCGTAA	0.443																																						ENST00000394023.3																			0				breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	41						c.(643-645)Tgg>Cgg		SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2							79	72	74					12																	56575853		2203	4300	6503	SO:0001583	missense	6601				chromatin remodeling|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity	g.chr12:56575853A>G	U66616	CCDS8907.1, CCDS8908.1, CCDS55835.1	12q13.2	2008-05-14				ENSG00000139613			11105	protein-coding gene	gene with protein product		601734				8804307, 9693044	Standard	NM_001130420		Approved	BAF170, Rsc8, CRACC2	uc001skb.3	Q8TAQ2	OTTHUMG00000170288	ENST00000267064.4:c.643T>C	12.37:g.56575853A>G	ENSP00000267064:p.Trp215Arg					RP11-977G19.5_ENST00000553176.1_RNA|SMARCC2_ENST00000267064.4_Missense_Mutation_p.W215R|SMARCC2_ENST00000347471.4_Missense_Mutation_p.W215R|SMARCC2_ENST00000550859.1_5'UTR|SMARCC2_ENST00000550164.1_Missense_Mutation_p.W215R	p.W215R	NM_001130420.1	NP_001123892.1	Q8TAQ2	SMRC2_HUMAN	OV - Ovarian serous cystadenocarcinoma(18;0.123)		8	748	-			215					F8VTJ5|Q59GV3|Q92923|Q96E12|Q96GY4	Missense_Mutation	SNP	ENST00000267064.4	37	c.643T>C	CCDS8907.1	.	.	.	.	.	.	.	.	.	.	A	22.6	4.308301	0.81247	.	.	ENSG00000139613	ENST00000394023;ENST00000550164;ENST00000347471;ENST00000267064	T;T;T	0.66638	-0.18;-0.13;-0.22	5.08	5.08	0.68730	BRCT (1);Chromo domain/shadow (1);	0.000000	0.85682	D	0.000000	D	0.82930	0.5144	M	0.85197	2.74	0.52501	D	0.999952	D;D;D;D;D	0.76494	0.998;0.999;0.998;0.998;0.999	D;D;D;D;D	0.83275	0.99;0.996;0.99;0.99;0.996	D	0.85923	0.1447	10	0.87932	D	0	-5.6109	14.2688	0.66138	1.0:0.0:0.0:0.0	.	104;215;220;215;215	B4DF22;F8VTJ5;Q59G16;Q8TAQ2;Q8TAQ2-2	.;.;.;SMRC2_HUMAN;.	R	215	ENSP00000449396:W215R;ENSP00000302919:W215R;ENSP00000267064:W215R	ENSP00000267064:W215R	W	-	1	0	SMARCC2	54862120	1.000000	0.71417	0.945000	0.38365	0.897000	0.52465	8.801000	0.91905	2.276000	0.75962	0.454000	0.30748	TGG		0.443	SMARCC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000408370.1			7	31	0	0	0	1	0	7	31					G	56575853	A	G	56575853	3	3	286	1	0	0	0	0	1	0	0	0	14776	159	6	4	3182	4	SMARCC2	12	56575853	Missense_Mutation	SNP	A	TCGA-J9-A52C-01A-11D-A26M-08	88558	56575853	77276042	419	13549	69	2									
SMARCC2	6601	broad.mit.edu	37	chr12	56575860	56575860	+	Silent	SNP	G	G	A																															ctcgctgggatccacgtgtcGtaactgccatgggaaattga																								rs373505591	byFrequency	TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr12:56575860G>A	ENST00000267064.4	-	8	722	c.636C>T	c.(634-636)taC>taT	p.Y212Y	RP11-977G19.5_ENST00000553176.1_RNA|SMARCC2_ENST00000347471.4_Silent_p.Y212Y|SMARCC2_ENST00000550164.1_Silent_p.Y212Y|SMARCC2_ENST00000394023.3_Silent_p.Y212Y|SMARCC2_ENST00000550859.1_5'UTR	NM_003075.3	NP_003066.2	Q8TAQ2	SMRC2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2	212					ATP-dependent chromatin remodeling (GO:0043044)|chromatin remodeling (GO:0006338)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome disassembly (GO:0006337)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase II promoter involved in forebrain neuron fate commitment (GO:0021882)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)			breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(18;0.123)			TCCACGTGTCGTAACTGCCAT	0.438													g|||	3	0.000599042	0	0	5008	,	,		18171	0.002		0	False		,,,				2504	0.001					ENST00000394023.3																			0				breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	41						c.(634-636)taC>taT		SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2							72	66	68					12																	56575860		2203	4300	6503	SO:0001819	synonymous_variant	6601				chromatin remodeling|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity	g.chr12:56575860G>A	U66616	CCDS8907.1, CCDS8908.1, CCDS55835.1	12q13.2	2008-05-14				ENSG00000139613			11105	protein-coding gene	gene with protein product		601734				8804307, 9693044	Standard	NM_001130420		Approved	BAF170, Rsc8, CRACC2	uc001skb.3	Q8TAQ2	OTTHUMG00000170288	ENST00000267064.4:c.636C>T	12.37:g.56575860G>A						RP11-977G19.5_ENST00000553176.1_RNA|SMARCC2_ENST00000267064.4_Silent_p.Y212Y|SMARCC2_ENST00000347471.4_Silent_p.Y212Y|SMARCC2_ENST00000550859.1_5'UTR|SMARCC2_ENST00000550164.1_Silent_p.Y212Y	p.Y212Y	NM_001130420.1	NP_001123892.1	Q8TAQ2	SMRC2_HUMAN	OV - Ovarian serous cystadenocarcinoma(18;0.123)		8	741	-			212					F8VTJ5|Q59GV3|Q92923|Q96E12|Q96GY4	Silent	SNP	ENST00000267064.4	37	c.636C>T	CCDS8907.1																																																																																				0.438	SMARCC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000408370.1			5	30	0	0	0	1	0	5	30					A	56575860	G	A	56575860	2	1	286	1	0	0	0	0	0	0	0	1	14776	1140	40	1		1	SMARCC2	12	56575860	Silent	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	7	56575860	77276035	420	13550	69	2									
PAN2	9924	broad.mit.edu	37	chr12	56713245	56713245	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aggtcaccaggctttataccCgagtattgagtcaagtaatc	12	11	9	9	1	2	1	2	1	0	0	3	2	2	1	2	2	1	3	2	2	5	6			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr12:56713245C>T	ENST00000425394.2	-	23	3505	c.3129G>A	c.(3127-3129)tcG>tcA	p.S1043S	PAN2_ENST00000549090.1_5'UTR|PAN2_ENST00000257931.5_Silent_p.S1042S|PAN2_ENST00000440411.3_Silent_p.S1039S|PAN2_ENST00000548043.1_Silent_p.S1043S	NM_001127460.2	NP_001120932	Q9HBH5	RDH14_HUMAN	PAN2 poly(A) specific ribonuclease subunit	198					osteoblast differentiation (GO:0001649)	endoplasmic reticulum (GO:0005783)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	oxidoreductase activity (GO:0016491)	p.S1039S(1)		NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	41					Vitamin A(DB00162)	GCTTTATACCCGAGTATTGAG	0.443																																						ENST00000425394.2																			1	Substitution - coding silent(1)	p.S1039S(1)	lung(1)	NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						c.(3127-3129)tcG>tcA		PAN2 poly(A) specific ribonuclease subunit homolog (S. cerevisiae)							158	153	154					12																	56713245		2203	4300	6503	SO:0001819	synonymous_variant	9924				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|ubiquitin-dependent protein catabolic process	cytosol|nucleus	nucleic acid binding|poly(A)-specific ribonuclease activity|ubiquitin thiolesterase activity	g.chr12:56713245C>T	AB014610	CCDS8915.1, CCDS44922.1, CCDS53802.1	12q13.2	2014-03-27	2014-03-27	2008-01-08		ENSG00000135473		"Ubiquitin-specific peptidases"	20074	protein-coding gene	gene with protein product	"PAN2 homolog, PABP1 dependent poly A specific ribonuclease subunit (S. cerevisiae)"		"ubiquitin specific protease 52", "ubiquitin specific peptidase 52", "PAN2 poly(A) specific ribonuclease subunit homolog (S. cerevisiae)"	USP52		12838346, 14583602	Standard	NM_014871		Approved	KIAA0710, hPAN2	uc001skx.3	Q504Q3	OTTHUMG00000170412	ENST00000425394.2:c.3129G>A	12.37:g.56713245C>T						PAN2_ENST00000257931.5_Silent_p.S1042S|PAN2_ENST00000440411.3_Silent_p.S1039S|PAN2_ENST00000548043.1_Silent_p.S1043S|PAN2_ENST00000549090.1_5'UTR	p.S1043S	NM_001127460.2	NP_001120932.1	Q504Q3	PAN2_HUMAN			23	3505	-			1043			Exonuclease.			Silent	SNP	ENST00000425394.2	37	c.3129G>A	CCDS44922.1																																																																																				0.443	PAN2-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000409024.1	NM_014871		10	64	0	0	0	1	0	10	64					T	56713245	C	T	56713245	2	4	286	1	0	0	0	0	0	0	0	1	11414	639	23	2		2	PAN2	12	56713245	Silent	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	137385	56713245	77138650	421	13551											
LRP1	4035	broad.mit.edu	37	chr12	57588369	57588369	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgccccccaggtgtgaaacGccccagatgccctctgaatt	8	8	9	16	2	1	3	0	2	1	1	2	3	1	3	6	1	2	0	6	1	2	1	rs199834508		TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr12:57588369G>A	ENST00000243077.3	+	50	8544	c.8078G>A	c.(8077-8079)cGc>cAc	p.R2693H	MIR1228_ENST00000408438.1_RNA	NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	2693					aging (GO:0007568)|aorta morphogenesis (GO:0035909)|apoptotic cell clearance (GO:0043277)|beta-amyloid clearance (GO:0097242)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of platelet-derived growth factor receptor-beta signaling pathway (GO:2000587)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of Wnt signaling pathway (GO:0030178)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of lipid transport (GO:0032370)|positive regulation of protein transport (GO:0051222)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|receptor-mediated endocytosis (GO:0006898)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cholesterol transport (GO:0032374)|regulation of phospholipase A2 activity (GO:0032429)|retinoid metabolic process (GO:0001523)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|lipoprotein particle receptor binding (GO:0070325)|lipoprotein transporter activity (GO:0042954)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|receptor activity (GO:0004872)			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	GGTGTGAAACGCCCCAGATGC	0.647																																						ENST00000243077.3																			0				NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184						c.(8077-8079)cGc>cAc		low density lipoprotein receptor-related protein 1	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)						58	60	59					12																	57588369		2203	4300	6503	SO:0001583	missense	4035				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity	g.chr12:57588369G>A	X13916	CCDS8932.1	12q13.3	2013-05-28	2010-01-26		ENSG00000123384	ENSG00000123384		"CD molecules", "Low density lipoprotein receptors"	6692	protein-coding gene	gene with protein product		107770	"alpha-2-macroglobulin receptor"	APR, A2MR		2548950	Standard	NM_002332		Approved	LRP, CD91, LRP1A, APOER	uc001snd.3	Q07954	OTTHUMG00000044412	ENST00000243077.3:c.8078G>A	12.37:g.57588369G>A	ENSP00000243077:p.Arg2693His						p.R2693H	NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.0103)	50	8544	+			2693					Q2PP12|Q86SW0|Q8IVG8	Missense_Mutation	SNP	ENST00000243077.3	37	c.8078G>A	CCDS8932.1	.	.	.	.	.	.	.	.	.	.	g	17.09	3.300003	0.60195	.	.	ENSG00000123384	ENST00000243077	D	0.91237	-2.81	5.23	5.23	0.72850	.	0.169384	0.40302	N	0.001124	T	0.76644	0.4016	N	0.12471	0.22	0.80722	D	1	P	0.48350	0.909	B	0.32090	0.14	T	0.78008	-0.2372	10	0.33141	T	0.24	.	10.2424	0.43321	0.0911:0.0:0.9089:0.0	.	2693	Q07954	LRP1_HUMAN	H	2693	ENSP00000243077:R2693H	ENSP00000243077:R2693H	R	+	2	0	LRP1	55874636	0.905000	0.30787	0.999000	0.59377	0.951000	0.60555	2.198000	0.42705	2.594000	0.87642	0.457000	0.33378	CGC		0.647	LRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412772.2	NM_002332		13	76	0	0	0	1	0	13	76					A	57588369	G	A	57588369	3	1	286	1	0	0	0	0	1	0	0	0	8951	1087	38	1	8276	1	LRP1	12	57588369	Missense_Mutation	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	875124	57588369	76263526	422	13552											
B4GALNT1	2583	broad.mit.edu	37	chr12	58022502	58022502	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgctagctgcacaccttgccGaagggcatgagatagtgttc	9	10	12	10	1	0	1	0	1	0	1	1	3	0	1	2	1	4	5	2	1	3	4	rs376140415		TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr12:58022502G>A	ENST00000341156.4	-	8	1580	c.996C>T	c.(994-996)ttC>ttT	p.F332F	B4GALNT1_ENST00000550943.1_5'Flank|B4GALNT1_ENST00000418555.2_Silent_p.F277F|B4GALNT1_ENST00000449184.3_Silent_p.F299F	NM_001478.3	NP_001469.1	Q00973	B4GN1_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 1	332					carbohydrate metabolic process (GO:0005975)|cell death (GO:0008219)|ganglioside biosynthetic process (GO:0001574)|glycosphingolipid metabolic process (GO:0006687)|lipid glycosylation (GO:0030259)|lipid storage (GO:0019915)|protein glycosylation (GO:0006486)|spermatogenesis (GO:0007283)	integral component of Golgi membrane (GO:0030173)|membrane (GO:0016020)|plasma membrane (GO:0005886)	(N-acetylneuraminyl)-galactosylglucosylceramide N-acetylgalactosaminyltransferase activity (GO:0003947)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|urinary_tract(1)	20	Melanoma(17;0.122)		BRCA - Breast invasive adenocarcinoma(9;0.109)			ACACCTTGCCGAAGGGCATGA	0.617																																						ENST00000341156.4																			0				breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|urinary_tract(1)	20						c.(994-996)ttC>ttT		beta-1,4-N-acetyl-galactosaminyl transferase 1		G		0,4406		0,0,2203	62	51	55		996	-3.4	1	12		55	4,8596		0,4,4296	no	coding-synonymous	B4GALNT1	NM_001478.3		0,4,6499	AA,AG,GG		0.0465,0.0,0.0308		332/534	58022502	4,13002	2203	4300	6503	SO:0001819	synonymous_variant	2583				lipid glycosylation	integral to Golgi membrane|membrane fraction	(N-acetylneuraminyl)-galactosylglucosylceramide N-acetylgalactosaminyltransferase activity	g.chr12:58022502G>A	M83651	CCDS8950.1, CCDS61170.1, CCDS61171.1	12q13.3	2013-09-11	2006-01-08	2006-01-08	ENSG00000135454	ENSG00000135454	2.4.1.92	"Beta 4-glycosyltransferases", "Glycosyltransferase family 2 domain containing"	4117	protein-coding gene	gene with protein product	"GD2 synthase, GM2 synthase"	601873	"UDP-N-acetyl-alpha-D-galactosamine:(N-acetylneuraminyl)-galactosylglucosylceramide N-acetylgalactosaminyltransferase (GalNAc-T)", "UDP-Gal:betaGlcNAc beta-1,4-N-acetylgalactosaminyltransferase transferase 1", "spastic paraplegia 26"	GALGT, SPG26		1601877, 23746551	Standard	NM_001478		Approved	beta1-4GalNAc-T	uc001spg.2	Q00973	OTTHUMG00000170190	ENST00000341156.4:c.996C>T	12.37:g.58022502G>A						B4GALNT1_ENST00000449184.3_Silent_p.F299F|B4GALNT1_ENST00000418555.2_Silent_p.F277F	p.F332F	NM_001478.3	NP_001469.1	Q00973	B4GN1_HUMAN	BRCA - Breast invasive adenocarcinoma(9;0.109)		8	1580	-	Melanoma(17;0.122)		332					B4DE26|Q8N636	Silent	SNP	ENST00000341156.4	37	c.996C>T	CCDS8950.1	.	.	.	.	.	.	.	.	.	.	.	9.181	1.023564	0.19433	0.0	4.65E-4	ENSG00000135454	ENST00000547741	.	.	.	4.64	-3.43	0.04810	.	.	.	.	.	T	0.55178	0.1904	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.53436	-0.8439	4	.	.	.	-5.483	11.1531	0.48471	0.4266:0.0:0.5734:0.0	.	.	.	.	L	4	.	.	S	-	2	0	B4GALNT1	56308769	0.282000	0.24268	0.983000	0.44433	0.779000	0.44077	-0.230000	0.09083	-0.727000	0.04888	-0.982000	0.02568	TCG		0.617	B4GALNT1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407853.1	NM_001478		7	44	0	0	0	1	0	7	44					A	58022502	G	A	58022502	2	1	286	1	0	0	0	0	0	0	0	1	1266	1049	37	2		2	B4GALNT1	12	58022502	Silent	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	434133	58022502	75829393	423	13553											
B4GALNT1	2583	broad.mit.edu	37	chr12	58022927	58022927	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atgtccctcggtggagaaccGgactgggaagaaaggacatg	12	6	15	8	2	0	2	0	0	0	2	2	6	1	5	2	5	1	0	2	5	3	0			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr12:58022927G>A	ENST00000341156.4	-	7	1299	c.715C>T	c.(715-717)Cgg>Tgg	p.R239W	B4GALNT1_ENST00000550943.1_5'Flank|B4GALNT1_ENST00000418555.2_Missense_Mutation_p.R184W|B4GALNT1_ENST00000449184.3_Intron	NM_001478.3	NP_001469.1	Q00973	B4GN1_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 1	239					carbohydrate metabolic process (GO:0005975)|cell death (GO:0008219)|ganglioside biosynthetic process (GO:0001574)|glycosphingolipid metabolic process (GO:0006687)|lipid glycosylation (GO:0030259)|lipid storage (GO:0019915)|protein glycosylation (GO:0006486)|spermatogenesis (GO:0007283)	integral component of Golgi membrane (GO:0030173)|membrane (GO:0016020)|plasma membrane (GO:0005886)	(N-acetylneuraminyl)-galactosylglucosylceramide N-acetylgalactosaminyltransferase activity (GO:0003947)	p.R239W(1)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|urinary_tract(1)	20	Melanoma(17;0.122)		BRCA - Breast invasive adenocarcinoma(9;0.109)			GTGGAGAACCGGACTGGGAAG	0.532																																						ENST00000341156.4																			1	Substitution - Missense(1)	p.R239W(1)	large_intestine(1)	breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|urinary_tract(1)	20						c.(715-717)Cgg>Tgg		beta-1,4-N-acetyl-galactosaminyl transferase 1							59	55	56					12																	58022927		2203	4300	6503	SO:0001583	missense	2583				lipid glycosylation	integral to Golgi membrane|membrane fraction	(N-acetylneuraminyl)-galactosylglucosylceramide N-acetylgalactosaminyltransferase activity	g.chr12:58022927G>A	M83651	CCDS8950.1, CCDS61170.1, CCDS61171.1	12q13.3	2013-09-11	2006-01-08	2006-01-08	ENSG00000135454	ENSG00000135454	2.4.1.92	"Beta 4-glycosyltransferases", "Glycosyltransferase family 2 domain containing"	4117	protein-coding gene	gene with protein product	"GD2 synthase, GM2 synthase"	601873	"UDP-N-acetyl-alpha-D-galactosamine:(N-acetylneuraminyl)-galactosylglucosylceramide N-acetylgalactosaminyltransferase (GalNAc-T)", "UDP-Gal:betaGlcNAc beta-1,4-N-acetylgalactosaminyltransferase transferase 1", "spastic paraplegia 26"	GALGT, SPG26		1601877, 23746551	Standard	NM_001478		Approved	beta1-4GalNAc-T	uc001spg.2	Q00973	OTTHUMG00000170190	ENST00000341156.4:c.715C>T	12.37:g.58022927G>A	ENSP00000341562:p.Arg239Trp					B4GALNT1_ENST00000449184.3_Intron|B4GALNT1_ENST00000418555.2_Missense_Mutation_p.R184W	p.R239W	NM_001478.3	NP_001469.1	Q00973	B4GN1_HUMAN	BRCA - Breast invasive adenocarcinoma(9;0.109)		7	1299	-	Melanoma(17;0.122)		239					B4DE26|Q8N636	Missense_Mutation	SNP	ENST00000341156.4	37	c.715C>T	CCDS8950.1	.	.	.	.	.	.	.	.	.	.	.	13.88	2.369290	0.42003	.	.	ENSG00000135454	ENST00000341156;ENST00000418555	T;T	0.19394	2.15;2.18	5.34	4.45	0.53987	.	0.210000	0.41097	D	0.000952	T	0.29783	0.0744	L	0.34521	1.04	0.80722	D	1	D;D	0.76494	0.999;0.999	P;P	0.62014	0.897;0.875	T	0.01596	-1.1316	10	0.72032	D	0.01	-3.0107	10.5813	0.45257	0.0903:0.0:0.9097:0.0	.	184;239	B4DE26;Q00973	.;B4GN1_HUMAN	W	239;184	ENSP00000341562:R239W;ENSP00000401601:R184W	ENSP00000341562:R239W	R	-	1	2	B4GALNT1	56309194	0.997000	0.39634	1.000000	0.80357	0.990000	0.78478	3.601000	0.54059	2.522000	0.85027	0.655000	0.94253	CGG		0.532	B4GALNT1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407853.1	NM_001478		5	18	0	0	0	1	0	5	18					A	58022927	G	A	58022927	3	1	286	1	0	0	0	0	1	0	0	0	1266	1115	39	2	906	2	B4GALNT1	12	58022927	Missense_Mutation	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	425	58022927	75828968	424	13554											
LRRC10	376132	broad.mit.edu	37	chr12	70004150	70004150	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gagctggcctggcagcaaacGcagggcgttggagccggcat	8	5	17	11	3	0	0	0	0	0	0	0	2	0	1	2	5	4	6	2	5	1	1	rs201257055		TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr12:70004150G>A	ENST00000361484.3	-	1	792	c.469C>T	c.(469-471)Cgt>Tgt	p.R157C		NM_201550.2	NP_963844.2	Q5BKY1	LRC10_HUMAN	leucine rich repeat containing 10	157					cardiac muscle cell development (GO:0055013)	cytoskeleton (GO:0005856)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|sarcomere (GO:0030017)				large_intestine(2)|lung(6)	8	all_cancers(2;2.83e-105)|Breast(13;9.83e-07)|Esophageal squamous(21;0.187)		Epithelial(6;1.98e-18)|GBM - Glioblastoma multiforme(2;7.43e-12)|Lung(24;0.000185)|OV - Ovarian serous cystadenocarcinoma(12;0.00126)|STAD - Stomach adenocarcinoma(21;0.00501)|Kidney(9;0.143)|LUSC - Lung squamous cell carcinoma(43;0.24)			GGCAGCAAACGCAGGGCGTTG	0.627																																						ENST00000361484.3																			0				large_intestine(2)|lung(6)	8						c.(469-471)Cgt>Tgt		leucine rich repeat containing 10							45	46	45					12																	70004150		2203	4300	6503	SO:0001583	missense	376132					nucleus		g.chr12:70004150G>A	AK095935	CCDS31856.1	12q15	2009-09-08				ENSG00000198812			20264	protein-coding gene	gene with protein product		610846				14751244	Standard	NM_201550		Approved	HRLRRP, LRRC10A	uc001svc.3	Q5BKY1		ENST00000361484.3:c.469C>T	12.37:g.70004150G>A	ENSP00000355166:p.Arg157Cys						p.R157C	NM_201550.2	NP_963844.2	Q5BKY1	LRC10_HUMAN	Epithelial(6;1.98e-18)|GBM - Glioblastoma multiforme(2;7.43e-12)|Lung(24;0.000185)|OV - Ovarian serous cystadenocarcinoma(12;0.00126)|STAD - Stomach adenocarcinoma(21;0.00501)|Kidney(9;0.143)|LUSC - Lung squamous cell carcinoma(43;0.24)		1	792	-	all_cancers(2;2.83e-105)|Breast(13;9.83e-07)|Esophageal squamous(21;0.187)		157					Q6ZVY4	Missense_Mutation	SNP	ENST00000361484.3	37	c.469C>T	CCDS31856.1	.	.	.	.	.	.	.	.	.	.	G	19.06	3.752932	0.69648	.	.	ENSG00000198812	ENST00000361484	T	0.25414	1.8	5.62	4.73	0.59995	.	0.201056	0.53938	N	0.000047	T	0.30417	0.0764	M	0.71036	2.16	0.58432	D	0.999994	B	0.20988	0.05	B	0.15052	0.012	T	0.07271	-1.0781	10	0.41790	T	0.15	.	14.5997	0.68432	0.07:0.0:0.93:0.0	.	157	Q5BKY1	LRC10_HUMAN	C	157	ENSP00000355166:R157C	ENSP00000355166:R157C	R	-	1	0	LRRC10	68290417	1.000000	0.71417	0.992000	0.48379	0.892000	0.51952	3.988000	0.56951	1.518000	0.48934	0.555000	0.69702	CGT		0.627	LRRC10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403834.1	NM_201550		8	42	0	0	0	1	0	8	42					A	70004150	G	A	70004150	3	1	286	1	0	0	0	0	1	0	0	0	8967	1087	38	1	368	1	LRRC10	12	70004150	Missense_Mutation	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	11981223	70004150	63847745	425	13555											
BEST3	144453	broad.mit.edu	37	chr12	70070800	70070800	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtgggatccaaaaactggcGtccaatcaggcacgcaaaga	14	5	12	10	2	1	1	1	0	0	1	3	2	3	2	2	4	1	2	2	4	4	0	rs200668742		TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr12:70070800G>A	ENST00000330891.5	-	7	989	c.763C>T	c.(763-765)Cgc>Tgc	p.R255C	BEST3_ENST00000476098.1_Intron|BEST3_ENST00000331471.4_Missense_Mutation_p.R255C|BEST3_ENST00000488961.1_Intron|BEST3_ENST00000553096.1_Missense_Mutation_p.R149C	NM_001282613.1|NM_032735.2	NP_001269542.1|NP_116124.2	Q8N1M1	BEST3_HUMAN	bestrophin 3	255					negative regulation of ion transport (GO:0043271)	chloride channel complex (GO:0034707)|plasma membrane (GO:0005886)	chloride channel activity (GO:0005254)	p.R255C(1)		cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(2)	12	Breast(13;2.31e-06)|Esophageal squamous(21;0.187)		Lung(24;0.000278)|OV - Ovarian serous cystadenocarcinoma(12;0.0019)|STAD - Stomach adenocarcinoma(21;0.00694)			AAAAACTGGCGTCCAATCAGG	0.517													G|||	1	0.000199681	0	0	5008	,	,		20143	0.001		0	False		,,,				2504	0					ENST00000330891.5																			1	Substitution - Missense(1)	p.R255C(1)	prostate(1)	cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(2)	12						c.(763-765)Cgc>Tgc		bestrophin 3							93	93	93					12																	70070800		2025	4178	6203	SO:0001583	missense	144453					chloride channel complex|plasma membrane	chloride channel activity	g.chr12:70070800G>A	AF440758	CCDS8992.2, CCDS41810.1, CCDS61192.1, CCDS61193.1, CCDS73496.1	12q14.2-q15	2012-09-26	2006-10-18	2006-10-18	ENSG00000127325	ENSG00000127325		"Ion channels / Chloride channels : Calcium activated : Bestrophins"	17105	protein-coding gene	gene with protein product		607337	"vitelliform macular dystrophy 2-like 3"	VMD2L3		12032738	Standard	NM_032735		Approved	MGC40411, MGC13168	uc001svg.3	Q8N1M1	OTTHUMG00000149919	ENST00000330891.5:c.763C>T	12.37:g.70070800G>A	ENSP00000332413:p.Arg255Cys					BEST3_ENST00000331471.4_Missense_Mutation_p.R255C|BEST3_ENST00000488961.1_Intron|BEST3_ENST00000476098.1_Intron|BEST3_ENST00000553096.1_Missense_Mutation_p.R149C	p.R255C	NM_032735.2	NP_116124.2	Q8N1M1	BEST3_HUMAN	Lung(24;0.000278)|OV - Ovarian serous cystadenocarcinoma(12;0.0019)|STAD - Stomach adenocarcinoma(21;0.00694)		7	989	-	Breast(13;2.31e-06)|Esophageal squamous(21;0.187)		255					B5MDI8|F8VVZ2|Q53YQ7|Q8N356|Q8NFT9|Q9BR80	Missense_Mutation	SNP	ENST00000330891.5	37	c.763C>T	CCDS8992.2	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	27.4	4.831023	0.91036	.	.	ENSG00000127325	ENST00000331471;ENST00000330891;ENST00000553096	D;D;D	0.98901	-5.22;-5.22;-5.22	5.47	4.57	0.56435	.	0.000000	0.85682	D	0.000000	D	0.99399	0.9788	H	0.95079	3.62	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.992	D	0.98429	1.0581	10	0.87932	D	0	-18.6627	16.173	0.81831	0.0:0.0:0.8661:0.1339	.	255;255	Q8N1M1;Q8N1M1-1	BEST3_HUMAN;.	C	255;255;149	ENSP00000329064:R255C;ENSP00000332413:R255C;ENSP00000449548:R149C	ENSP00000332413:R255C	R	-	1	0	BEST3	68357067	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.701000	0.74624	1.413000	0.46997	0.655000	0.94253	CGC		0.517	BEST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313908.2	NM_152439		9	51	0	0	0	1	0	9	51					A	70070800	G	A	70070800	3	1	286	1	0	0	0	0	1	0	0	0	1406	1145	40	1	1259	1	BEST3	12	70070800	Missense_Mutation	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	66650	70070800	63781095	426	13556											
C12orf63	144535	broad.mit.edu	37	chr12	97078469	97078469	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agaagtcttaaagttcaggcGttgcattcacttggaagtct	11	13	10	7	1	4	1	2	0	2	1	4	2	4	2	0	2	1	3	0	2	4	5	rs149195544		TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr12:97078469G>A	ENST00000524981.4	+	41	5783	c.5760G>A	c.(5758-5760)gcG>gcA	p.A1920A				Q96N23	CL055_HUMAN		0								p.A345A(1)									AAGTTCAGGCGTTGCATTCAC	0.323													G|||	1	0.000199681	8e-04	0	5008	,	,		17177	0		0	False		,,,				2504	0					ENST00000524981.3																			1	Substitution - coding silent(1)	p.A345A(1)	central_nervous_system(1)	breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(26)|ovary(1)|prostate(2)|skin(11)|stomach(2)	54						c.(1111-1113)gcG>gcA									77	91	86					12																	97078469		2203	4299	6502	SO:0001819	synonymous_variant	0							g.chr12:97078469G>A																												ENST00000524981.4:c.5760G>A	12.37:g.97078469G>A							p.A371A			Q6ZTY8	CL063_HUMAN			8	1113	+			345						Silent	SNP	ENST00000524981.4	37	c.1113G>A																																																																																					0.323	C12orf55-003	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf	protein_coding	protein_coding	OTTHUMT00000395046.4			10	46	0	0	0	1	0	10	46					A	97078469	G	A	97078469	2	1	286	1	0	0	0	0	0	0	0	1	1706	1132	40	1		1	C12orf63	12	97078469	Silent	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	27007669	97078469	36773426	427	13557											
STAB2	55576	broad.mit.edu	37	chr12	104142908	104142908	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttaacggagggtgtcacgagCacgccacctgtaagatgaca	12	7	12	10	3	1	2	1	1	0	1	1	4	1	3	2	2	2	2	2	2	2	2			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr12:104142908C>T	ENST00000388887.2	+	59	6616	c.6412C>T	c.(6412-6414)Cac>Tac	p.H2138Y	RP11-341G23.4_ENST00000551299.1_RNA	NM_017564.9	NP_060034.9			stabilin 2											NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						GTGTCACGAGCACGCCACCTG	0.607																																						ENST00000388887.2																			0				NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						c.(6412-6414)Cac>Tac		stabilin 2							57	52	53					12																	104142908		2203	4300	6503	SO:0001583	missense	55576				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity	g.chr12:104142908C>T	AF160476	CCDS31888.1	12q23.3	2007-01-29				ENSG00000136011			18629	protein-coding gene	gene with protein product	"hyaluronic acid receptor for endocytosis"	608561				11829752, 12077138	Standard	XR_429107		Approved	DKFZP434E0321, FELL, STAB-2, HARE, FEEL-2	uc001tjw.3	Q8WWQ8	OTTHUMG00000170056	ENST00000388887.2:c.6412C>T	12.37:g.104142908C>T	ENSP00000373539:p.His2138Tyr					RP11-341G23.4_ENST00000551299.1_RNA	p.H2138Y	NM_017564.9	NP_060034.9	Q8WWQ8	STAB2_HUMAN			59	6616	+			2138			EGF-like 17.			Missense_Mutation	SNP	ENST00000388887.2	37	c.6412C>T	CCDS31888.1	.	.	.	.	.	.	.	.	.	.	C	23.8	4.462281	0.84425	.	.	ENSG00000136011	ENST00000388887;ENST00000258495	D	0.90563	-2.69	5.29	5.29	0.74685	EGF domain, merozoite surface protein 1-like (1);Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.052636	0.85682	D	0.000000	D	0.94414	0.8203	M	0.64676	1.99	0.49299	D	0.999778	D	0.89917	1.0	D	0.91635	0.999	D	0.93003	0.6425	10	0.32370	T	0.25	.	18.9308	0.92564	0.0:1.0:0.0:0.0	.	2138	Q8WWQ8	STAB2_HUMAN	Y	2138;825	ENSP00000373539:H2138Y	ENSP00000258495:H825Y	H	+	1	0	STAB2	102667038	1.000000	0.71417	0.999000	0.59377	0.916000	0.54674	7.247000	0.78257	2.497000	0.84241	0.455000	0.32223	CAC		0.607	STAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407089.1			8	38	0	0	0	1	0	8	38					T	104142908	C	T	104142908	3	4	286	1	0	0	0	0	1	0	0	0	15237	710	25	3	6646	3	STAB2	12	104142908	Missense_Mutation	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	7064439	104142908	29708987	428	13558											
BTBD11	121551	broad.mit.edu	37	chr12	107937778	107937778	+	Frame_Shift_Del	DEL	C	C	-																															caagcaccacggcaatggcaCccccctgcaccacaagcagg																										TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr12:107937778delC	ENST00000280758.5	+	3	1880	c.1352delC	c.(1351-1353)accfs	p.T451fs	BTBD11_ENST00000490090.2_Frame_Shift_Del_p.T451fs|BTBD11_ENST00000420571.2_Frame_Shift_Del_p.T451fs	NM_001018072.1	NP_001018082.1	A6QL63	BTBDB_HUMAN	BTB (POZ) domain containing 11	451						integral component of membrane (GO:0016021)				NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(18)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						GGCAATGGCACCCCCCTGCAC	0.582																																						ENST00000280758.5																			0				NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(18)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						c.(1351-1353)acfs		BTB (POZ) domain containing 11							51	46	48					12																	107937778		2203	4300	6503	SO:0001589	frameshift_variant	121551					integral to membrane	DNA binding	g.chr12:107937778delC	AK091276	CCDS31893.1, CCDS41827.1	12q24.11	2013-10-02			ENSG00000151136	ENSG00000151136		"BTB/POZ domain containing", "Ankyrin repeat domain containing"	23844	protein-coding gene	gene with protein product							Standard	XM_005268645		Approved	FLJ33957, ABTB2B	uc001tmk.1	A6QL63	OTTHUMG00000150413	ENST00000280758.5:c.1352delC	12.37:g.107937778delC	ENSP00000280758:p.Thr451fs					BTBD11_ENST00000490090.2_Frame_Shift_Del_p.T451fs|BTBD11_ENST00000420571.2_Frame_Shift_Del_p.T451fs	p.T451fs	NM_001018072.1	NP_001018082.1	A6QL63	BTBDB_HUMAN			3	1880	+			451					A4FU41|B3KXG3|C9J019|C9JK80|E9PHS4|Q3ZTQ4|Q52M89|Q6ZV99|Q8N245	Frame_Shift_Del	DEL	ENST00000280758.5	37	c.1352delC	CCDS31893.1																																																																																				0.582	BTBD11-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318003.1	NM_152322		11	38						11	38	---	---	---	---	-	107937778	C	-	107937778	7	5	286	1	0	1	0	1	0	0	0	0	1539	507	18	0	1362	0	BTBD11	12	107937778	Frame_Shift_Del	DEL	C	TCGA-J9-A52C-01A-11D-A26M-08	3794870	107937778	25914117	429	13559											
ACACB	32	broad.mit.edu	37	chr12	109693958	109693958	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccacagctctgaagggaacGtggcagagcggattctttga	10	9	13	9	2	2	3	0	2	2	1	3	5	3	5	1	3	3	2	1	3	2	2			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr12:109693958G>A	ENST00000338432.7	+	45	6299	c.6180G>A	c.(6178-6180)acG>acA	p.T2060T	ACACB_ENST00000377848.3_Silent_p.T2060T|ACACB_ENST00000377854.5_Silent_p.T1990T|ACACB_ENST00000543201.1_Silent_p.T726T			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	2060	Carboxyltransferase.				acetyl-CoA metabolic process (GO:0006084)|biotin metabolic process (GO:0006768)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|malonyl-CoA biosynthetic process (GO:2001295)|positive regulation of cellular metabolic process (GO:0031325)|protein homotetramerization (GO:0051289)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	acetyl-CoA carboxylase activity (GO:0003989)|ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin carboxylase activity (GO:0004075)|metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Adenine(DB00173)|Biotin(DB00121)	TGAAGGGAACGTGGCAGAGCG	0.602																																						ENST00000338432.7																			0				NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95						c.(6178-6180)acG>acA		acetyl-CoA carboxylase beta	Biotin(DB00121)						59	54	56					12																	109693958		2203	4300	6503	SO:0001819	synonymous_variant	32				acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	cytosol|endomembrane system|Golgi apparatus|membrane	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding	g.chr12:109693958G>A	U89344	CCDS31898.1	12q24.1	2010-05-07	2010-04-30		ENSG00000076555	ENSG00000076555	6.4.1.2		85	protein-coding gene	gene with protein product	"acetyl-CoA carboxylase 2"	601557	"acetyl-Coenzyme A carboxylase beta"			8670171	Standard	NM_001093		Approved	HACC275, ACC2, ACCB	uc001toc.3	O00763	OTTHUMG00000169250	ENST00000338432.7:c.6180G>A	12.37:g.109693958G>A						ACACB_ENST00000543201.1_Silent_p.T726T|ACACB_ENST00000377848.3_Silent_p.T2060T|ACACB_ENST00000377854.5_Silent_p.T1990T	p.T2060T			O00763	ACACB_HUMAN			45	6299	+			2060			Carboxyltransferase.		A6NK36|Q16852|Q1HEC1|Q6KE87|Q6KE89|Q6TY48	Silent	SNP	ENST00000338432.7	37	c.6180G>A	CCDS31898.1																																																																																				0.602	ACACB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403077.1	NM_001093		7	55	0	0	0	1	0	7	55					A	109693958	G	A	109693958	2	1	286	1	0	0	0	0	0	0	0	1	107	1132	40	1		1	ACACB	12	109693958	Silent	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	1756180	109693958	24157937	430	13560											
C12orf51	283450	broad.mit.edu	37	chr12	112650410	112650411	+	Frame_Shift_Del	DEL	GT	GT	-																															ggctggctgtcccggaggagGtggagtcccctcagttctct																										TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr12:112650410_112650411delGT	ENST00000430131.2	-	48	7388_7389	c.6243_6244delAC	c.(6241-6246)ccacctfs	p.PP2081fs	HECTD4_ENST00000377560.5_Frame_Shift_Del_p.PP2331fs|HECTD4_ENST00000550722.1_Frame_Shift_Del_p.PP2357fs			Q9Y4D8	HECD4_HUMAN	HECT domain containing E3 ubiquitin protein ligase 4	2081					glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)										CCCGGAGGAGGTGGAGTCCCCT	0.52																																						ENST00000550722.1																			0											c.(7069-7074)ccctfs		HECT domain containing E3 ubiquitin protein ligase 4																																				SO:0001589	frameshift_variant	283450							g.chr12:112650410_112650411delGT	AK091473		12q24.13	2013-07-17	2012-08-14	2012-08-14	ENSG00000173064	ENSG00000173064			26611	protein-coding gene	gene with protein product			"chromosome 12 open reading frame 51"	C12orf51		21270382	Standard	NM_001109662		Approved	FLJ34154, KIAA0614	uc021reb.1	Q9Y4D8	OTTHUMG00000150719	ENST00000430131.2:c.6243_6244delAC	12.37:g.112650410_112650411delGT	ENSP00000404379:p.Pro2081fs					HECTD4_ENST00000430131.2_Frame_Shift_Del_p.PP2083fs|HECTD4_ENST00000377560.5_Frame_Shift_Del_p.PP2333fs	p.PP2359fs	NM_001109662.3	NP_001103132.3					49	7466_7467	-								L8B0P6|Q3MJD5|Q6P0A0|Q7L530|Q8NB70|Q8WU73|Q96NT9|Q9NZS4|Q9UFT6	Frame_Shift_Del	DEL	ENST00000430131.2	37	c.7071_7072delAC																																																																																					0.52	HECTD4-202	KNOWN	basic	protein_coding	protein_coding		NM_173813		8	51						8	51	---	---	---	---	-	112650411	GT	-	112650410	7	5	286	1	0	1	0	1	0	0	0	0	1696	1261	44	0	5858	0	C12orf51	12	112650410	Frame_Shift_Del	DEL	GT	TCGA-J9-A52C-01A-11D-A26M-08	2956452	112650410	21201485	431	13561											
KSR2	283455	broad.mit.edu	37	chr12	118198839	118198839	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcgtgtgggcctcgtccacGcggtgccccagctggaactc	4	7	15	15	4	0	0	0	0	0	0	3	1	1	1	4	4	3	1	4	4	1	0			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr12:118198839G>A	ENST00000339824.5	-	4	1690	c.963C>T	c.(961-963)cgC>cgT	p.R321R	KSR2_ENST00000425217.1_Silent_p.R292R			Q6VAB6	KSR2_HUMAN	kinase suppressor of ras 2	321					intracellular signal transduction (GO:0035556)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CCTCGTCCACGCGGTGCCCCA	0.677																																						ENST00000425217.1																			0				NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						c.(874-876)cgC>cgT		kinase suppressor of ras 2							44	54	51					12																	118198839		1973	4161	6134	SO:0001819	synonymous_variant	283455				intracellular signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity	g.chr12:118198839G>A	AY345972	CCDS61250.1	12q24.22-q24.23	2014-08-12			ENSG00000171435	ENSG00000171435			18610	protein-coding gene	gene with protein product		610737				12471243	Standard	NM_173598		Approved	FLJ25965	uc001two.2	Q6VAB6	OTTHUMG00000169020	ENST00000339824.5:c.963C>T	12.37:g.118198839G>A						KSR2_ENST00000339824.5_Silent_p.R321R	p.R292R	NM_173598.4	NP_775869.3	Q6VAB6	KSR2_HUMAN			4	930	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		321			Pro-rich.		A0PJT2|Q3B828|Q8N775	Silent	SNP	ENST00000339824.5	37	c.876C>T																																																																																					0.677	KSR2-001	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000401987.2	NM_173598		14	63	0	0	0	1	0	14	63					A	118198839	G	A	118198839	2	1	286	1	0	0	0	0	0	0	0	1	8582	1074	38	1		1	KSR2	12	118198839	Silent	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	5548429	118198839	15653056	432	13562											
GCN1L1	10985	broad.mit.edu	37	chr12	120587427	120587427	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	taccagctttggtccgccacGattcctcctccagggcagcc	6	9	9	17	2	0	0	0	0	0	0	4	1	4	0	7	2	3	2	7	2	1	3			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr12:120587427G>A	ENST00000300648.6	-	36	4541	c.4529C>T	c.(4528-4530)tCg>tTg	p.S1510L		NM_006836.1	NP_006827	Q92616	GCN1L_HUMAN	GCN1 general control of amino-acid synthesis 1-like 1 (yeast)	1510					regulation of translation (GO:0006417)|translation (GO:0006412)	cytoplasm (GO:0005737)|membrane (GO:0016020)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)			NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GGTCCGCCACGATTCCTCCTC	0.577																																						ENST00000300648.6																			0				NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94						c.(4528-4530)tCg>tTg		GCN1 general control of amino-acid synthesis 1-like 1 (yeast)							54	58	56					12																	120587427		2123	4247	6370	SO:0001583	missense	10985				regulation of translation	ribosome	protein binding|translation factor activity, nucleic acid binding	g.chr12:120587427G>A	U77700	CCDS41847.1	12q24.2	2008-07-03	2001-11-28						4199	protein-coding gene	gene with protein product		605614	"GCN1 (general control of amino-acid synthesis 1, yeast)-like 1"			9234705	Standard	NM_006836		Approved	KIAA0219, GCN1, GCN1L	uc001txo.3	Q92616	OTTHUMG00000169338	ENST00000300648.6:c.4529C>T	12.37:g.120587427G>A	ENSP00000300648:p.Ser1510Leu						p.S1510L	NM_006836.1	NP_006827.1	Q92616	GCN1L_HUMAN			36	4541	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		1510					A8KAY1|O95001|O95651|Q6P2S3|Q86X65|Q8N5I5|Q8WU80|Q99736|Q9UE60	Missense_Mutation	SNP	ENST00000300648.6	37	c.4529C>T	CCDS41847.1	.	.	.	.	.	.	.	.	.	.	G	35	5.490419	0.96339	.	.	ENSG00000089154	ENST00000300648	T	0.20069	2.1	5.6	5.6	0.85130	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.51890	0.1701	M	0.82056	2.57	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	T	0.54886	-0.8226	10	0.72032	D	0.01	.	19.5989	0.95551	0.0:0.0:1.0:0.0	.	1510	Q92616	GCN1L_HUMAN	L	1510	ENSP00000300648:S1510L	ENSP00000300648:S1510L	S	-	2	0	GCN1L1	119071810	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.488000	0.97947	2.639000	0.89480	0.561000	0.74099	TCG		0.577	GCN1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403592.1			16	62	0	0	0	1	0	16	62					A	120587427	G	A	120587427	3	1	286	1	0	0	0	0	1	0	0	0	6299	1059	37	2	3578	2	GCN1L1	12	120587427	Missense_Mutation	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	2388588	120587427	13264468	433	13563											
ANAPC5	51433	broad.mit.edu	37	chr12	121747516	121747516	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttcctaccttctgctttctTcggctgatcgtaggaagctg	5	15	9	12	2	2	1	0	1	2	0	5	2	3	2	2	2	3	4	2	2	3	6			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr12:121747516T>G	ENST00000261819.3	-	16	2165	c.2044A>C	c.(2044-2046)Aag>Cag	p.K682Q	ANAPC5_ENST00000535482.1_Missense_Mutation_p.K348Q|ANAPC5_ENST00000544314.1_5'UTR|ANAPC5_ENST00000541887.1_Missense_Mutation_p.K669Q|ANAPC5_ENST00000344395.4_Missense_Mutation_p.K570Q|ANAPC5_ENST00000441917.2_Missense_Mutation_p.K570Q	NM_016237.4	NP_057321.2	Q9UJX4	APC5_HUMAN	anaphase promoting complex subunit 5	682					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein phosphatase binding (GO:0019903)			breast(6)|endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|prostate(1)|skin(3)	31	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					TCTGCTTTCTTCGGCTGATCG	0.483																																						ENST00000261819.3																			0				breast(6)|endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|prostate(1)|skin(3)	31						c.(2044-2046)Aag>Cag		anaphase promoting complex subunit 5							72	70	71					12																	121747516		2203	4300	6503	SO:0001583	missense	51433				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|G2/M transition of mitotic cell cycle|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm	protein phosphatase binding|ubiquitin-protein ligase activity	g.chr12:121747516T>G	AF191339	CCDS9220.1, CCDS45000.1	12q24.31	2014-08-12			ENSG00000089053	ENSG00000089053		"Anaphase promoting complex subunits"	15713	protein-coding gene	gene with protein product		606948				9469815	Standard	NM_016237		Approved	APC5	uc001uag.3	Q9UJX4	OTTHUMG00000169157	ENST00000261819.3:c.2044A>C	12.37:g.121747516T>G	ENSP00000261819:p.Lys682Gln					ANAPC5_ENST00000541887.1_Missense_Mutation_p.K669Q|ANAPC5_ENST00000535482.1_Missense_Mutation_p.K348Q|ANAPC5_ENST00000441917.2_Missense_Mutation_p.K570Q|ANAPC5_ENST00000544314.1_5'UTR|ANAPC5_ENST00000344395.4_Missense_Mutation_p.K570Q	p.K682Q	NM_016237.4	NP_057321.2	Q9UJX4	APC5_HUMAN			16	2165	-	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)		682					E9PFB2|Q8N4H7|Q9BQD4	Missense_Mutation	SNP	ENST00000261819.3	37	c.2044A>C	CCDS9220.1	.	.	.	.	.	.	.	.	.	.	T	7.371	0.626918	0.14257	.	.	ENSG00000089053	ENST00000441917;ENST00000541887;ENST00000261819;ENST00000535482;ENST00000544314;ENST00000344395	T;T;T;T;T	0.75260	-0.92;-0.92;-0.92;-0.92;-0.92	5.75	4.59	0.56863	Tetratricopeptide-like helical (1);	0.377576	0.32386	N	0.006168	T	0.61451	0.2348	L	0.31664	0.95	0.80722	D	1	B;B;B	0.09022	0.002;0.002;0.001	B;B;B	0.10450	0.005;0.004;0.002	T	0.53394	-0.8445	10	0.23891	T	0.37	.	11.507	0.50472	0.1344:0.0:0.0:0.8656	.	348;570;682	F5H0N1;E9PFB2;Q9UJX4	.;.;APC5_HUMAN	Q	570;669;682;348;284;570	ENSP00000415061:K570Q;ENSP00000439875:K669Q;ENSP00000261819:K682Q;ENSP00000438754:K348Q;ENSP00000343787:K570Q	ENSP00000261819:K682Q	K	-	1	0	ANAPC5	120231899	0.999000	0.42202	0.829000	0.32907	0.525000	0.34531	3.270000	0.51600	0.978000	0.38470	-0.509000	0.04479	AAG		0.483	ANAPC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402582.1			12	32	0	0	0	1	0	12	32					G	121747516	T	G	121747516	3	3	286	1	0	0	0	0	1	0	0	0	605	1792	62	5	231	5	ANAPC5	12	121747516	Missense_Mutation	SNP	T	TCGA-J9-A52C-01A-11D-A26M-08	1160089	121747516	12104379	434	13564											
CCDC92	80212	broad.mit.edu	37	chr12	124422214	124422216	+	In_Frame_Del	DEL	CTT	CTT	-																															gccttcagctcctccaggtaCttcttctctcgctccttgat																										TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr12:124422214_124422216delCTT	ENST00000238156.3	-	5	739_741	c.385_387delAAG	c.(385-387)aagdel	p.K129del	CCDC92_ENST00000545891.1_In_Frame_Del_p.K112del|CCDC92_ENST00000545135.1_In_Frame_Del_p.K112del|CCDC92_ENST00000544798.1_Intron|DNAH10OS_ENST00000514254.2_5'Flank|RP11-380L11.3_ENST00000602292.1_RNA	NM_025140.1	NP_079416.1	Q53HC0	CCD92_HUMAN	coiled-coil domain containing 92	129						centriole (GO:0005814)				large_intestine(5)|lung(2)	7	all_neural(191;0.101)|Medulloblastoma(191;0.163)			Epithelial(86;0.0002)|OV - Ovarian serous cystadenocarcinoma(86;0.000222)|all cancers(50;0.00129)|BRCA - Breast invasive adenocarcinoma(302;0.242)		CCTCCAGGTACTTCTTCTCTCGC	0.537																																						ENST00000545135.1																			0				large_intestine(5)|lung(2)	7						c.(334-336)del		coiled-coil domain containing 92																																				SO:0001651	inframe_deletion	80212							g.chr12:124422214_124422216delCTT	AK026124	CCDS9256.1	12q24.31	2011-09-02			ENSG00000119242	ENSG00000119242			29563	protein-coding gene	gene with protein product	"limkain beta 2"					12477932	Standard	NM_025140		Approved	FLJ22471	uc001ufw.1	Q53HC0	OTTHUMG00000168725	ENST00000238156.3:c.385_387delAAG	12.37:g.124422217_124422219delCTT	ENSP00000238156:p.Lys129del					CCDC92_ENST00000545891.1_In_Frame_Del_p.K112del|CCDC92_ENST00000544798.1_Intron|CCDC92_ENST00000238156.3_In_Frame_Del_p.K129del	p.K112del			Q53HC0	CCD92_HUMAN		Epithelial(86;0.0002)|OV - Ovarian serous cystadenocarcinoma(86;0.000222)|all cancers(50;0.00129)|BRCA - Breast invasive adenocarcinoma(302;0.242)	3	3630_3632	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		129					B3KNQ0|Q9H697	In_Frame_Del	DEL	ENST00000238156.3	37	c.334_336delAAG	CCDS9256.1																																																																																				0.537	CCDC92-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000400780.2	NM_025140		40	174						40	174	---	---	---	---	-	124422216	CTT	-	124422214	7	5	286	1	0	1	0	1	0	0	0	0	2871	564	20	0	612	0	CCDC92	12	124422214	In_Frame_Del	DEL	CTT	TCGA-J9-A52C-01A-11D-A26M-08	2674698	124422214	9429681	435	13565											
CCDC92	80212	broad.mit.edu	37	chr12	124422261	124422261	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccagcactgtgatcatcgCgtttttctgctccagttctt	5	16	7	13	2	3	1	1	1	2	0	6	1	5	1	2	0	2	4	2	0	0	4	rs202226542		TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr12:124422261C>T	ENST00000238156.3	-	5	694	c.340G>A	c.(340-342)Gcg>Acg	p.A114T	CCDC92_ENST00000545891.1_Missense_Mutation_p.A97T|CCDC92_ENST00000545135.1_Missense_Mutation_p.A97T|CCDC92_ENST00000544798.1_Intron|DNAH10OS_ENST00000514254.2_5'Flank|RP11-380L11.3_ENST00000602292.1_RNA	NM_025140.1	NP_079416.1	Q53HC0	CCD92_HUMAN	coiled-coil domain containing 92	114						centriole (GO:0005814)				large_intestine(5)|lung(2)	7	all_neural(191;0.101)|Medulloblastoma(191;0.163)			Epithelial(86;0.0002)|OV - Ovarian serous cystadenocarcinoma(86;0.000222)|all cancers(50;0.00129)|BRCA - Breast invasive adenocarcinoma(302;0.242)		GTGATCATCGCGTTTTTCTGC	0.468																																						ENST00000545135.1																			0				large_intestine(5)|lung(2)	7						c.(289-291)Gcg>Acg		coiled-coil domain containing 92		C	THR/ALA	0,4406		0,0,2203	291	266	275		340	4.3	0	12		275	1,8599	1.2+/-3.3	0,1,4299	yes	missense	CCDC92	NM_025140.1	58	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	114/332	124422261	1,13005	2203	4300	6503	SO:0001583	missense	80212							g.chr12:124422261C>T	AK026124	CCDS9256.1	12q24.31	2011-09-02			ENSG00000119242	ENSG00000119242			29563	protein-coding gene	gene with protein product	"limkain beta 2"					12477932	Standard	NM_025140		Approved	FLJ22471	uc001ufw.1	Q53HC0	OTTHUMG00000168725	ENST00000238156.3:c.340G>A	12.37:g.124422261C>T	ENSP00000238156:p.Ala114Thr					CCDC92_ENST00000238156.3_Missense_Mutation_p.A114T|CCDC92_ENST00000545891.1_Missense_Mutation_p.A97T|CCDC92_ENST00000544798.1_Intron	p.A97T			Q53HC0	CCD92_HUMAN		Epithelial(86;0.0002)|OV - Ovarian serous cystadenocarcinoma(86;0.000222)|all cancers(50;0.00129)|BRCA - Breast invasive adenocarcinoma(302;0.242)	3	3585	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		114					B3KNQ0|Q9H697	Missense_Mutation	SNP	ENST00000238156.3	37	c.289G>A	CCDS9256.1	.	.	.	.	.	.	.	.	.	.	C	34	5.363386	0.95877	0.0	1.16E-4	ENSG00000119242	ENST00000238156;ENST00000545135;ENST00000545891;ENST00000539761	T;T;T;T	0.50548	1.74;1.76;1.76;0.74	5.17	4.29	0.51040	.	0.000000	0.85682	D	0.000000	T	0.68824	0.3043	M	0.84219	2.685	0.58432	D	0.999994	D	0.89917	1.0	D	0.87578	0.998	T	0.69702	-0.5074	10	0.30078	T	0.28	-20.5176	13.9509	0.64116	0.0:0.9266:0.0:0.0734	.	114	Q53HC0	CCD92_HUMAN	T	114;97;97;114	ENSP00000238156:A114T;ENSP00000439526:A97T;ENSP00000440024:A97T;ENSP00000439441:A114T	ENSP00000238156:A114T	A	-	1	0	CCDC92	122988214	1.000000	0.71417	0.011000	0.14972	0.001000	0.01503	7.776000	0.85560	1.310000	0.45006	0.555000	0.69702	GCG		0.468	CCDC92-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000400780.2	NM_025140		22	145	0	0	0	1	0	22	145					T	124422261	C	T	124422261	3	4	286	1	0	0	0	0	1	0	0	0	2871	768	27	1	659	1	CCDC92	12	124422261	Missense_Mutation	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	47	124422261	9429634	436	13566											
FAM101A	144347	broad.mit.edu	37	chr12	124798868	124798868	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	actgcacgtggcgcaactacCgcagccagctgaccctggag	9	5	12	15	3	0	1	0	1	0	0	0	2	0	2	3	2	5	4	3	2	2	1	rs199878238		TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr12:124798868C>A	ENST00000389727.3	+	3	448	c.448C>A	c.(448-450)Cgc>Agc	p.R150S	FAM101A_ENST00000338359.4_Missense_Mutation_p.R69S|FAM101A_ENST00000324038.3_Missense_Mutation_p.R69S|FAM101A_ENST00000546355.1_Missense_Mutation_p.R69S			Q6ZTI6	F101A_HUMAN	family with sequence similarity 101, member A	150										endometrium(1)|kidney(1)|lung(1)	3	all_neural(191;0.101)|Medulloblastoma(191;0.163)			Epithelial(86;2.38e-05)|OV - Ovarian serous cystadenocarcinoma(86;6.95e-05)|all cancers(50;0.000361)|BRCA - Breast invasive adenocarcinoma(302;0.059)		GCGCAACTACCGCAGCCAGCT	0.642																																						ENST00000324038.3																			0				endometrium(1)|kidney(1)|lung(1)	3						c.(205-207)Cgc>Agc		family with sequence similarity 101, member A							102	91	95					12																	124798868		2203	4300	6503	SO:0001583	missense	144347							g.chr12:124798868C>A		CCDS9258.1	12q24.31	2012-11-30			ENSG00000178882	ENSG00000178882			27051	protein-coding gene	gene with protein product		615927				12477932	Standard	NM_181709		Approved	FLJ44614	uc001ugd.2	Q6ZTI6	OTTHUMG00000168609	ENST00000389727.3:c.448C>A	12.37:g.124798868C>A	ENSP00000374377:p.Arg150Ser					FAM101A_ENST00000389727.3_Missense_Mutation_p.R150S|FAM101A_ENST00000546355.1_Missense_Mutation_p.R69S|FAM101A_ENST00000338359.4_Missense_Mutation_p.R69S	p.R69S	NM_181709.4	NP_859060.3	Q6ZTI6	F101A_HUMAN		Epithelial(86;2.38e-05)|OV - Ovarian serous cystadenocarcinoma(86;6.95e-05)|all cancers(50;0.000361)|BRCA - Breast invasive adenocarcinoma(302;0.059)	3	448	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		150					A5D8T5	Missense_Mutation	SNP	ENST00000389727.3	37	c.205C>A		.	.	.	.	.	.	.	.	.	.	C	18.40	3.615453	0.66672	.	.	ENSG00000178882	ENST00000324038;ENST00000541200;ENST00000389727;ENST00000546355;ENST00000338359	.	.	.	4.69	2.64	0.31445	.	0.176310	0.45867	D	0.000327	T	0.41811	0.1175	L	0.46157	1.445	0.39867	D	0.973451	P	0.35226	0.491	B	0.35931	0.214	T	0.43686	-0.9376	9	0.87932	D	0	-15.909	5.7074	0.17915	0.4445:0.4468:0.0:0.1087	.	150	Q6ZTI6	F101A_HUMAN	S	69;69;150;69;69	.	ENSP00000315626:R69S	R	+	1	0	FAM101A	123364821	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	4.300000	0.59079	0.967000	0.38186	0.555000	0.69702	CGC		0.642	FAM101A-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_181709		15	110	1	0	3.52763e-06	1	3.56688e-06	15	110					A	124798868	C	A	124798868	3	1	286	1	0	0	0	0	1	0	0	0	5380	652	23	5	211	5	FAM101A	12	124798868	Missense_Mutation	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	376607	124798868	9053027	437	13567											
SACS	26278	broad.mit.edu	37	chr13	23909565	23909565	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atctattacaaattagccacGtagtaagatttccttcagag	14	13	6	8	1	2	2	1	0	1	2	3	2	3	2	2	0	2	2	2	0	6	7	rs371652968		TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr13:23909565G>A	ENST00000382292.3	-	9	8723	c.8450C>T	c.(8449-8451)aCg>aTg	p.T2817M	SACS_ENST00000402364.1_Missense_Mutation_p.T2067M|SACS_ENST00000382298.3_Missense_Mutation_p.T2817M			Q9NZJ4	SACS_HUMAN	sacsin molecular chaperone	2817					cell death (GO:0008219)|negative regulation of inclusion body assembly (GO:0090084)|protein folding (GO:0006457)	axon (GO:0030424)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chaperone binding (GO:0051087)|Hsp70 protein binding (GO:0030544)|proteasome binding (GO:0070628)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		AATTAGCCACGTAGTAAGATT	0.358													G|||	1	0.000199681	0	0	5008	,	,		19226	0		0	False		,,,				2504	0.001					ENST00000382298.3																			0				NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189						c.(8449-8451)aCg>aTg		spastic ataxia of Charlevoix-Saguenay (sacsin)		G	MET/THR	0,4406		0,0,2203	100	94	96		8450	5.7	0	13		96	1,8597	1.2+/-3.3	0,1,4298	no	missense	SACS	NM_014363.4	81	0,1,6501	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging	2817/4580	23909565	1,13003	2203	4299	6502	SO:0001583	missense	26278				cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding	g.chr13:23909565G>A	AF193556	CCDS9300.2	13q11	2014-06-13	2014-01-30		ENSG00000151835	ENSG00000151835		"Heat shock proteins / DNAJ (HSP40)"	10519	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 138"	604490	"spastic ataxia of Charlevoix-Saguenay (sacsin)"			10610707, 15057823, 21726565	Standard	NM_001278055		Approved	ARSACS, KIAA0730, DKFZp686B15167, DNAJC29, SPAX6, PPP1R138	uc001uon.3	Q9NZJ4	OTTHUMG00000016562	ENST00000382292.3:c.8450C>T	13.37:g.23909565G>A	ENSP00000371729:p.Thr2817Met					SACS_ENST00000402364.1_Missense_Mutation_p.T2067M|SACS_ENST00000382292.3_Missense_Mutation_p.T2817M	p.T2817M	NM_014363.4	NP_055178.3	Q9NZJ4	SACS_HUMAN		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)	10	9038	-		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)	2817					O94835|Q5T9J5|Q5T9J7|Q5T9J8|Q68DF5|Q6MZR4|Q8NBF9	Missense_Mutation	SNP	ENST00000382292.3	37	c.8450C>T	CCDS9300.2	.	.	.	.	.	.	.	.	.	.	G	24.8	4.570643	0.86542	0.0	1.16E-4	ENSG00000151835	ENST00000382292;ENST00000402364;ENST00000382298	D;D;D	0.88431	-2.24;-2.38;-2.24	5.65	5.65	0.86999	.	0.107611	0.64402	D	0.000007	D	0.88202	0.6373	L	0.50333	1.59	0.44899	D	0.997915	D	0.54047	0.964	B	0.43623	0.425	D	0.88972	0.3401	10	0.56958	D	0.05	.	19.7855	0.96434	0.0:0.0:1.0:0.0	.	2817	Q9NZJ4	SACS_HUMAN	M	2817;2067;2817	ENSP00000371729:T2817M;ENSP00000385844:T2067M;ENSP00000371735:T2817M	ENSP00000371729:T2817M	T	-	2	0	SACS	22807565	1.000000	0.71417	0.044000	0.18714	0.988000	0.76386	7.500000	0.81588	2.684000	0.91462	0.555000	0.69702	ACG		0.358	SACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044148.3	NM_014363		5	39	0	0	0	1	0	5	39					A	23909565	G	A	23909565	3	1	286	1	0	0	0	0	1	0	0	0	13804	1145	40	1	5293	1	SACS	13	23909565	Missense_Mutation	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08		23909565	91260313	438	13568											
SACS	26278	broad.mit.edu	37	chr13	23913031	23913033	+	In_Frame_Del	DEL	TAC	TAC	-																															atctgctgtattgtagcacgTactactaacttcactcactt																										TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr13:23913031_23913033delTAC	ENST00000382292.3	-	9	5255_5257	c.4982_4984delGTA	c.(4981-4986)agtacg>acg	p.S1661del	SACS_ENST00000402364.1_In_Frame_Del_p.S911del|SACS_ENST00000382298.3_In_Frame_Del_p.S1661del			Q9NZJ4	SACS_HUMAN	sacsin molecular chaperone	1661					cell death (GO:0008219)|negative regulation of inclusion body assembly (GO:0090084)|protein folding (GO:0006457)	axon (GO:0030424)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chaperone binding (GO:0051087)|Hsp70 protein binding (GO:0030544)|proteasome binding (GO:0070628)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		TTGTAGCACGTACTACTAACTTC	0.384																																						ENST00000382298.3																			0				NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189						c.(4981-4986)acg>a		spastic ataxia of Charlevoix-Saguenay (sacsin)																																				SO:0001651	inframe_deletion	26278				cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding	g.chr13:23913031_23913033delTAC	AF193556	CCDS9300.2	13q11	2014-06-13	2014-01-30		ENSG00000151835	ENSG00000151835		"Heat shock proteins / DNAJ (HSP40)"	10519	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 138"	604490	"spastic ataxia of Charlevoix-Saguenay (sacsin)"			10610707, 15057823, 21726565	Standard	NM_001278055		Approved	ARSACS, KIAA0730, DKFZp686B15167, DNAJC29, SPAX6, PPP1R138	uc001uon.3	Q9NZJ4	OTTHUMG00000016562	ENST00000382292.3:c.4982_4984delGTA	13.37:g.23913034_23913036delTAC	ENSP00000371729:p.Ser1661del					SACS_ENST00000382292.3_In_Frame_Del_p.ST1661del|SACS_ENST00000402364.1_In_Frame_Del_p.ST911del	p.ST1661del	NM_014363.4	NP_055178.3	Q9NZJ4	SACS_HUMAN		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)	10	5570_5572	-		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)	1661					O94835|Q5T9J5|Q5T9J7|Q5T9J8|Q68DF5|Q6MZR4|Q8NBF9	In_Frame_Del	DEL	ENST00000382292.3	37	c.4982_4984delGTA	CCDS9300.2																																																																																				0.384	SACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044148.3	NM_014363		8	44						8	44	---	---	---	---	-	23913033	TAC	-	23913031	7	5	286	1	0	1	0	1	0	0	0	0	13804	1638	57	0	8759	0	SACS	13	23913031	In_Frame_Del	DEL	TAC	TCGA-J9-A52C-01A-11D-A26M-08	3466	23913031	91256847	439	13569											
PCDH9	5101	broad.mit.edu	37	chr13	67801068	67801068	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caagctgataaacaatgtctGcatttttcccactgtcttca	11	14	5	11	0	3	1	1	1	2	0	4	1	4	1	1	0	3	2	1	0	4	4			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr13:67801068G>A	ENST00000377865.2	-	1	1639	c.1505C>T	c.(1504-1506)gCa>gTa	p.A502V	PCDH9_ENST00000544246.1_Missense_Mutation_p.A502V|PCDH9_ENST00000456367.1_Missense_Mutation_p.A502V|PCDH9_ENST00000377861.3_Missense_Mutation_p.A502V|PCDH9_ENST00000328454.5_Missense_Mutation_p.A502V			Q9HC56	PCDH9_HUMAN	protocadherin 9	502	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				forebrain development (GO:0030900)|homophilic cell adhesion (GO:0007156)	cell-cell contact zone (GO:0044291)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		AACAATGTCTGCATTTTTCCC	0.423																																						ENST00000544246.1																			0				breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103						c.(1504-1506)gCa>gTa		protocadherin 9							112	115	114					13																	67801068		2203	4300	6503	SO:0001583	missense	5101				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr13:67801068G>A	AF169692	CCDS9443.1, CCDS9444.1	13q21.32	2010-02-22			ENSG00000184226	ENSG00000184226		"Cadherins / Protocadherins : Non-clustered"	8661	protein-coding gene	gene with protein product		603581				9787079	Standard	NM_020403		Approved		uc001vik.3	Q9HC56	OTTHUMG00000017040	ENST00000377865.2:c.1505C>T	13.37:g.67801068G>A	ENSP00000367096:p.Ala502Val					PCDH9_ENST00000377861.3_Missense_Mutation_p.A502V|PCDH9_ENST00000456367.1_Missense_Mutation_p.A502V|PCDH9_ENST00000328454.5_Missense_Mutation_p.A502V|PCDH9_ENST00000377865.2_Missense_Mutation_p.A502V	p.A502V	NM_203487.2	NP_982354.1	Q9HC56	PCDH9_HUMAN		GBM - Glioblastoma multiforme(99;0.00819)	2	2196	-		Hepatocellular(98;0.0906)|Breast(118;0.107)	502			Cadherin 5.		A2A6U1|Q5VT83|Q7Z3U0|Q8N3K7	Missense_Mutation	SNP	ENST00000377865.2	37	c.1505C>T	CCDS9444.1	.	.	.	.	.	.	.	.	.	.	G	18.59	3.656108	0.67586	.	.	ENSG00000184226	ENST00000544246;ENST00000377865;ENST00000456367;ENST00000328454;ENST00000377861	T;T;T;T;T	0.22743	1.94;1.94;1.94;1.94;1.94	6.08	6.08	0.98989	Cadherin (4);Cadherin-like (1);	0.048099	0.85682	D	0.000000	T	0.63733	0.2536	H	0.96142	3.775	0.80722	D	1	B;D;B;P	0.89917	0.438;1.0;0.391;0.744	P;D;P;P	0.81914	0.513;0.995;0.447;0.768	T	0.74287	-0.3714	10	0.87932	D	0	.	20.6634	0.99662	0.0:0.0:1.0:0.0	.	502;502;502;502	B7ZM79;Q5VT82;Q9HC56-2;Q9HC56	.;.;.;PCDH9_HUMAN	V	502	ENSP00000442186:A502V;ENSP00000367096:A502V;ENSP00000401699:A502V;ENSP00000332060:A502V;ENSP00000367092:A502V	ENSP00000332060:A502V	A	-	2	0	PCDH9	66699069	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.894000	0.99253	0.655000	0.94253	GCA		0.423	PCDH9-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276387.1	NM_203487		10	59	0	0	0	1	0	10	59					A	67801068	G	A	67801068	3	1	286	1	0	0	0	0	1	0	0	0	11518	1319	46	3	2224	3	PCDH9	13	67801068	Missense_Mutation	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	43888037	67801068	47368810	440	13570											
KLF5	688	broad.mit.edu	37	chr13	73636372	73636372	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tattttcatcaaacaagaacTtcctacaccagatcttcatc	14	13	2	12	0	4	2	3	0	1	2	6	2	5	2	2	0	3	0	2	0	5	6			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr13:73636372T>C	ENST00000377687.4	+	2	1171	c.635T>C	c.(634-636)cTt>cCt	p.L212P	KLF5_ENST00000539231.1_Missense_Mutation_p.L121P|KLF5_ENST00000477333.1_3'UTR	NM_001730.3	NP_001721.2	Q13887	KLF5_HUMAN	Kruppel-like factor 5 (intestinal)	212					angiogenesis (GO:0001525)|cellular response to organic cyclic compound (GO:0071407)|cellular response to peptide (GO:1901653)|intestinal epithelial cell development (GO:0060576)|microvillus assembly (GO:0030033)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of microvillus assembly (GO:0032534)|skeletal muscle cell differentiation (GO:0035914)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			breast(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Prostate(6;0.00187)|Breast(118;0.0735)		GBM - Glioblastoma multiforme(99;0.0011)		AAACAAGAACTTCCTACACCA	0.512																																						ENST00000377687.4																			0				breast(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						c.(634-636)cTt>cCt		Kruppel-like factor 5 (intestinal)							88	88	88					13																	73636372		2203	4300	6503	SO:0001583	missense	688				transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding	g.chr13:73636372T>C	D14520	CCDS9448.1, CCDS66562.1	13q21.3	2013-01-08			ENSG00000102554	ENSG00000102554		"Kruppel-like transcription factors", "Zinc fingers, C2H2-type"	6349	protein-coding gene	gene with protein product		602903		BTEB2		8479902, 9973612	Standard	NM_001730		Approved	IKLF, CKLF	uc001vje.3	Q13887	OTTHUMG00000017074	ENST00000377687.4:c.635T>C	13.37:g.73636372T>C	ENSP00000366915:p.Leu212Pro					KLF5_ENST00000539231.1_Missense_Mutation_p.L121P|KLF5_ENST00000477333.1_3'UTR	p.L212P	NM_001730.3	NP_001721.2	Q13887	KLF5_HUMAN		GBM - Glioblastoma multiforme(99;0.0011)	2	1171	+		Prostate(6;0.00187)|Breast(118;0.0735)	212					L0R3U5|L0R4T9|Q9UHP8	Missense_Mutation	SNP	ENST00000377687.4	37	c.635T>C	CCDS9448.1	.	.	.	.	.	.	.	.	.	.	T	13.39	2.222332	0.39300	.	.	ENSG00000102554	ENST00000539231;ENST00000377687;ENST00000545883	T;T	0.08896	3.24;3.04	5.94	4.76	0.60689	.	0.224162	0.47093	D	0.000249	T	0.10637	0.0260	L	0.54323	1.7	0.80722	D	1	B	0.12013	0.005	B	0.09377	0.004	T	0.02781	-1.1111	10	0.72032	D	0.01	.	11.8804	0.52571	0.0:0.068:0.0:0.932	.	212	Q13887	KLF5_HUMAN	P	121;212;192	ENSP00000440407:L121P;ENSP00000366915:L212P	ENSP00000366915:L212P	L	+	2	0	KLF5	72534373	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.698000	0.84413	1.069000	0.40788	0.459000	0.35465	CTT		0.512	KLF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045263.1			8	43	0	0	0	1	0	8	43					C	73636372	T	C	73636372	3	2	286	1	0	0	0	0	1	0	0	0	8349	1609	56	4	641	4	KLF5	13	73636372	Missense_Mutation	SNP	T	TCGA-J9-A52C-01A-11D-A26M-08	5835304	73636372	41533506	441	13571											
DCT	1638	broad.mit.edu	37	chr13	95121166	95121166	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcttcgcgagatctaaggcGcccaagaactgctctctttc	8	12	8	13	3	3	2	0	0	3	2	6	3	3	2	1	1	2	1	1	1	3	4			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr13:95121166G>A	ENST00000377028.5	-	2	842	c.429C>T	c.(427-429)ggC>ggT	p.G143G	DCT_ENST00000446125.1_Silent_p.G143G|DCT_ENST00000490854.1_5'Flank	NM_001922.3	NP_001913.2	P40126	TYRP2_HUMAN	dopachrome tautomerase	143					cell development (GO:0048468)|developmental pigmentation (GO:0048066)|epidermis development (GO:0008544)|melanin biosynthetic process from tyrosine (GO:0006583)|positive regulation of neuroblast proliferation (GO:0002052)|ventricular zone neuroblast division (GO:0021847)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|melanosome (GO:0042470)	copper ion binding (GO:0005507)|dopachrome isomerase activity (GO:0004167)|oxidoreductase activity (GO:0016491)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	50	all_neural(89;0.0684)|Medulloblastoma(90;0.163)	all_cancers(2;3.71e-42)|all_epithelial(2;3.76e-31)|all_lung(2;5.16e-14)|Lung NSC(4;1.33e-13)|Breast(118;0.0013)|Hepatocellular(115;0.00886)|Renal(2;0.00988)		COAD - Colon adenocarcinoma(199;7.07e-05)|GBM - Glioblastoma multiforme(99;0.000472)		GATCTAAGGCGCCCAAGAACT	0.562																																						ENST00000377028.5																			0				NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	50						c.(427-429)ggC>ggT		dopachrome tautomerase							222	221	222					13																	95121166		2203	4300	6503	SO:0001819	synonymous_variant	1638				epidermis development|melanin biosynthetic process from tyrosine	cytosol|integral to membrane|melanosome membrane|microsome	copper ion binding|dopachrome isomerase activity|oxidoreductase activity	g.chr13:95121166G>A	D17547	CCDS9470.1, CCDS45060.1	13q32	2012-09-28	2012-09-28		ENSG00000080166	ENSG00000080166	5.3.3.12		2709	protein-coding gene	gene with protein product	"dopachrome delta-isomerase"	191275	"tyrosine-related protein 2"	TYRP2		8306979	Standard	NM_001922		Approved		uc010afh.3	P40126	OTTHUMG00000017206	ENST00000377028.5:c.429C>T	13.37:g.95121166G>A						DCT_ENST00000446125.1_Silent_p.G143G	p.G143G	NM_001922.3	NP_001913.2	P40126	TYRP2_HUMAN		COAD - Colon adenocarcinoma(199;7.07e-05)|GBM - Glioblastoma multiforme(99;0.000472)	2	842	-	all_neural(89;0.0684)|Medulloblastoma(90;0.163)	all_cancers(2;3.71e-42)|all_epithelial(2;3.76e-31)|all_lung(2;5.16e-14)|Lung NSC(4;1.33e-13)|Breast(118;0.0013)|Hepatocellular(115;0.00886)|Renal(2;0.00988)	143					Q09GT4	Silent	SNP	ENST00000377028.5	37	c.429C>T	CCDS9470.1																																																																																				0.562	DCT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045461.3			34	143	0	0	0	1	0	34	143					A	95121166	G	A	95121166	2	1	286	1	0	0	0	0	0	0	0	1	4304	1074	38	1		1	DCT	13	95121166	Silent	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	21484794	95121166	20048712	442	13572											
UGGT2	55757	broad.mit.edu	37	chr13	96543151	96543151	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cattttctgtgcttctcttgTtaatggatcaacaatagcaa	11	16	6	8	0	3	0	1	0	2	0	4	1	3	1	0	1	3	3	0	1	5	6			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr13:96543151T>C	ENST00000376747.3	-	25	2993	c.2923A>G	c.(2923-2925)Aca>Gca	p.T975A		NM_020121.3	NP_064506.3	Q9NYU1	UGGG2_HUMAN	UDP-glucose glycoprotein glucosyltransferase 2	975					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)|UDP-glucosylation (GO:0097359)	endoplasmic reticulum lumen (GO:0005788)	UDP-glucose:glycoprotein glucosyltransferase activity (GO:0003980)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(17)|lung(20)|ovary(3)|pancreas(1)|prostate(4)|urinary_tract(2)	60						GCTTCTCTTGTTAATGGATCA	0.279																																						ENST00000376747.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(17)|lung(20)|ovary(3)|pancreas(1)|prostate(4)|urinary_tract(2)	60						c.(2923-2925)Aca>Gca		UDP-glucose glycoprotein glucosyltransferase 2							79	76	77					13																	96543151		2202	4296	6498	SO:0001583	missense	55757				post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|ER-Golgi intermediate compartment	UDP-glucose:glycoprotein glucosyltransferase activity	g.chr13:96543151T>C	AF227906	CCDS9480.1	13q32.1	2009-07-23	2009-07-23	2009-07-23	ENSG00000102595	ENSG00000102595			15664	protein-coding gene	gene with protein product	"UDP-glucose:glycoprotein glucosyltransferase 2"	605898	"UDP-glucose ceramide glucosyltransferase-like 2"	UGCGL2		10694380	Standard	NM_020121		Approved	FLJ11485, HUGT2, FLJ10873, MGC150689, MGC87276, MGC117360	uc001vmt.3	Q9NYU1	OTTHUMG00000017230	ENST00000376747.3:c.2923A>G	13.37:g.96543151T>C	ENSP00000365938:p.Thr975Ala						p.T975A	NM_020121.3	NP_064506.3	Q9NYU1	UGGG2_HUMAN			25	2993	-			975					A6NKL4|Q08AD0|Q5JQR8|Q8N5K0|Q9UFC4	Missense_Mutation	SNP	ENST00000376747.3	37	c.2923A>G	CCDS9480.1	.	.	.	.	.	.	.	.	.	.	T	18.17	3.564146	0.65651	.	.	ENSG00000102595	ENST00000376747	T	0.29917	1.55	5.46	4.2	0.49525	.	0.099373	0.64402	D	0.000002	T	0.52677	0.1749	M	0.87180	2.865	0.80722	D	1	D;P	0.64830	0.994;0.74	P;P	0.59056	0.851;0.588	T	0.60131	-0.7323	10	0.72032	D	0.01	-20.1905	9.8373	0.40977	0.2629:0.0:0.0:0.7371	.	975;975	Q9NV86;Q9NYU1	.;UGGG2_HUMAN	A	975	ENSP00000365938:T975A	ENSP00000365938:T975A	T	-	1	0	UGGT2	95341152	1.000000	0.71417	1.000000	0.80357	0.879000	0.50718	3.536000	0.53582	2.202000	0.70862	0.533000	0.62120	ACA		0.279	UGGT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045507.1	NM_020121		3	19	0	0	0	1	0	3	19					C	96543151	T	C	96543151	3	2	286	1	0	0	0	0	1	0	0	0	16939	1725	60	4	1687	4	UGGT2	13	96543151	Missense_Mutation	SNP	T	TCGA-J9-A52C-01A-11D-A26M-08	1421985	96543151	18626727	443	13573											
TPP2	7174	broad.mit.edu	37	chr13	103297267	103297267	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aatcctttgtagcatgcatcGgaaggaatcaaccgctttga	12	11	9	9	2	1	1	1	1	0	0	3	3	2	3	2	2	3	4	2	2	5	3	rs200582637		TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr13:103297267G>A	ENST00000376065.4	+	19	2337	c.2301G>A	c.(2299-2301)tcG>tcA	p.S767S	TPP2_ENST00000376052.3_Silent_p.S767S	NM_003291.2	NP_003282.2	P29144	TPP2_HUMAN	tripeptidyl peptidase II	767					antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|protein polyubiquitination (GO:0000209)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	aminopeptidase activity (GO:0004177)|endopeptidase activity (GO:0004175)|serine-type endopeptidase activity (GO:0004252)|tripeptidyl-peptidase activity (GO:0008240)	p.S767S(1)		breast(2)|endometrium(5)|kidney(2)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	52	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					AGCATGCATCGGAAGGAATCA	0.353													G|||	1	0.000199681	0	0	5008	,	,		19951	0.001		0	False		,,,				2504	0					ENST00000376052.3																			1	Substitution - coding silent(1)	p.S767S(1)	lung(1)	breast(2)|endometrium(5)|kidney(2)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	52						c.(2299-2301)tcG>tcA		tripeptidyl peptidase II							100	97	98					13																	103297267		2203	4300	6503	SO:0001819	synonymous_variant	7174				proteolysis	cytoplasm|nucleus	aminopeptidase activity|serine-type endopeptidase activity|tripeptidyl-peptidase activity	g.chr13:103297267G>A	M55169	CCDS9502.1	13q32-q33	2008-02-05			ENSG00000134900	ENSG00000134900	3.4.14.10		12016	protein-coding gene	gene with protein product		190470				1670990	Standard	NM_003291		Approved		uc001vpi.4	P29144	OTTHUMG00000017305	ENST00000376065.4:c.2301G>A	13.37:g.103297267G>A						TPP2_ENST00000376065.4_Silent_p.S767S	p.S767S			P29144	TPP2_HUMAN			19	2317	+	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		767					Q5VZU8	Silent	SNP	ENST00000376065.4	37	c.2301G>A	CCDS9502.1																																																																																				0.353	TPP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045683.2			5	34	0	0	0	1	0	5	34					A	103297267	G	A	103297267	2	1	286	1	0	0	0	0	0	0	0	1	16409	1103	39	2		2	TPP2	13	103297267	Silent	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	6754116	103297267	11872611	444	13574											
ERCC5	2073	broad.mit.edu	37	chr13	103504506	103504506	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	accaagcacttaaaggagtcCgggatcgccatgggaactca	13	6	11	11	2	1	0	1	0	0	0	3	3	2	3	3	3	2	1	3	3	4	1			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr13:103504506C>T	ENST00000355739.4	+	2	1550	c.127C>T	c.(127-129)Cgg>Tgg	p.R43W	ERCC5_ENST00000535557.1_Missense_Mutation_p.R43W|BIVM-ERCC5_ENST00000602836.1_Missense_Mutation_p.P468L	NM_000123.3	NP_000114	P28715	ERCC5_HUMAN	excision repair cross-complementation group 5	43	N-domain.				DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|negative regulation of apoptotic process (GO:0043066)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|nucleotide-excision repair, DNA incision, 3'-to lesion (GO:0006295)|response to UV (GO:0009411)|response to UV-C (GO:0010225)|transcription-coupled nucleotide-excision repair (GO:0006283)|UV protection (GO:0009650)	intermediate filament cytoskeleton (GO:0045111)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	bubble DNA binding (GO:0000405)|double-stranded DNA binding (GO:0003690)|endodeoxyribonuclease activity (GO:0004520)|endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein N-terminus binding (GO:0047485)|single-stranded DNA binding (GO:0003697)			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	51	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					TAAAGGAGTCCGGGATCGCCA	0.378			"Mis, N, F"			"skin basal cell, skin squamous cell, melanoma"		Nucleotide excision repair (NER)	Xeroderma Pigmentosum																													ENST00000355739.4			yes	Rec		Xeroderma pigmentosum (G)	13	13q33	2073	"Mis, N, F"	"excision repair cross-complementing rodent repair deficiency, complementation group 5 (xeroderma pigmentosum, complementation group G (Cockayne syndrome))"			E		"skin basal cell, skin squamous cell, melanoma"			0				breast(3)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	51						c.(127-129)Cgg>Tgg	Nucleotide excision repair (NER)	excision repair cross-complementing rodent repair deficiency, complementation group 5							128	131	130					13																	103504506		2203	4300	6503	SO:0001583	missense	2073	Xeroderma Pigmentosum	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV				g.chr13:103504506C>T	X71342	CCDS32004.1	13q22-q34	2014-09-17	2014-03-07		ENSG00000134899	ENSG00000134899			3437	protein-coding gene	gene with protein product	"Cockayne syndrome"	133530	"xeroderma pigmentosum, complementation group G", "excision repair cross-complementing rodent repair deficiency, complementation group 5"	ERCM2, XPGC		8088806	Standard	NM_000123		Approved			P28715	OTTHUMG00000017310	ENST00000355739.4:c.127C>T	13.37:g.103504506C>T	ENSP00000347978:p.Arg43Trp					ERCC5_ENST00000535557.1_Missense_Mutation_p.R43W|BIVM-ERCC5_ENST00000602836.1_Missense_Mutation_p.P468L	p.R43W	NM_000123.3	NP_000114.2					2	1550	+	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)							A6NGT4|Q5JUS4|Q5JUS5|Q7Z2V3|Q8IZL6|Q8N1B7|Q9HD59|Q9HD60	Missense_Mutation	SNP	ENST00000355739.4	37	c.127C>T	CCDS32004.1	.	.	.	.	.	.	.	.	.	.	C	16.62	3.174475	0.57692	.	.	ENSG00000134899	ENST00000418659;ENST00000355739;ENST00000535557	T;T	0.69926	-0.44;-0.44	5.39	3.47	0.39725	XPG N-terminal (2);	0.000000	0.85682	D	0.000000	T	0.69433	0.3110	M	0.88105	2.93	0.54753	D	0.999988	B;B;P	0.36616	0.26;0.178;0.561	B;B;B	0.37387	0.248;0.065;0.128	T	0.73353	-0.4009	10	0.72032	D	0.01	-16.4647	8.4298	0.32750	0.2594:0.6527:0.0:0.0879	.	43;43;468	B4DSI5;P28715;Q59FZ7	.;ERCC5_HUMAN;.	W	468;43;43	ENSP00000347978:R43W;ENSP00000442117:R43W	ENSP00000347978:R43W	R	+	1	2	ERCC5	102302507	1.000000	0.71417	1.000000	0.80357	0.690000	0.40134	2.390000	0.44416	1.269000	0.44280	-0.233000	0.12211	CGG		0.378	ERCC5-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045708.1			11	26	0	0	0	1	0	11	26					T	103504506	C	T	103504506	3	4	286	1	0	0	0	0	1	0	0	0	5216	643	23	2	133	2	ERCC5	13	103504506	Missense_Mutation	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	207239	103504506	11665372	445	13575											
FAM70B	348013	broad.mit.edu	37	chr13	114504726	114504726	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggcctctgcagttctgaacGtcctgggcctgttcctgggc	3	11	14	13	1	2	1	0	1	2	0	4	1	4	1	4	3	2	3	4	3	1	2	rs371183456		TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr13:114504726G>A	ENST00000375353.3	+	7	637	c.610G>A	c.(610-612)Gtc>Atc	p.V204I		NM_182614.2	NP_872420.1	Q8WV15	T255B_HUMAN	transmembrane protein 255B	204						integral component of membrane (GO:0016021)											AGTTCTGAACGTCCTGGGCCT	0.672																																						ENST00000375353.3																			0											c.(610-612)Gtc>Atc		transmembrane protein 255B		G	ILE/VAL	1,4403	2.1+/-5.4	0,1,2201	42	34	36		610	-1.6	0	13		36	0,8600		0,0,4300	no	missense	FAM70B	NM_182614.2	29	0,1,6501	AA,AG,GG		0.0,0.0227,0.0077	benign	204/327	114504726	1,13003	2202	4300	6502	SO:0001583	missense	348013							g.chr13:114504726G>A	BC018995	CCDS45071.1	13q34	2012-11-30	2012-11-30	2012-11-30	ENSG00000184497	ENSG00000184497			28297	protein-coding gene	gene with protein product			"family with sequence similarity 70, member B"	FAM70B		12477932	Standard	NM_182614		Approved	MGC20579	uc001vuh.3	Q8WV15	OTTHUMG00000017398	ENST00000375353.3:c.610G>A	13.37:g.114504726G>A	ENSP00000364502:p.Val204Ile						p.V204I	NM_182614.2	NP_872420.1					7	637	+									Missense_Mutation	SNP	ENST00000375353.3	37	c.610G>A	CCDS45071.1	.	.	.	.	.	.	.	.	.	.	G	0.019	-1.454662	0.01071	2.27E-4	0.0	ENSG00000184497	ENST00000375353	T	0.41400	1.0	4.69	-1.57	0.08506	.	.	.	.	.	T	0.16599	0.0399	N	0.10733	0.035	0.35930	D	0.832464	B	0.21821	0.061	B	0.19148	0.024	T	0.43278	-0.9401	9	0.02654	T	1	-16.567	9.6742	0.40030	0.6528:0.0:0.3472:0.0	.	204	Q8WV15	FA70B_HUMAN	I	204	ENSP00000364502:V204I	ENSP00000364502:V204I	V	+	1	0	FAM70B	113609217	0.998000	0.40836	0.001000	0.08648	0.043000	0.13939	1.209000	0.32357	-0.220000	0.09988	-0.657000	0.03884	GTC		0.672	TMEM255B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045953.4	NM_182614		8	23	0	0	0	1	0	8	23					A	114504726	G	A	114504726	3	1	286	1	0	0	0	0	1	0	0	0	5606	1145	40	1	636	1	FAM70B	13	114504726	Missense_Mutation	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	11000220	114504726	665152	446	13576											
OR4N2	390429	broad.mit.edu	37	chr14	20295816	20295816	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggcaacttggccttcctggAtgcatcctactccttcattg	6	13	9	13	0	1	0	1	0	0	0	4	1	4	1	4	3	3	2	4	3	2	5			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr14:20295816A>G	ENST00000315947.1	+	1	209	c.209A>G	c.(208-210)gAt>gGt	p.D70G	OR4N2_ENST00000568211.1_Missense_Mutation_p.D70G	NM_001004723.1	NP_001004723.1	Q8NGD1	OR4N2_HUMAN	olfactory receptor, family 4, subfamily N, member 2	70						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(32)|ovary(2)|prostate(1)|skin(2)|stomach(2)	52	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		GCCTTCCTGGATGCATCCTAC	0.488																																						ENST00000568211.1																			0				breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(32)|ovary(2)|prostate(1)|skin(2)|stomach(2)	52						c.(208-210)gAt>gGt		olfactory receptor, family 4, subfamily N, member 2							162	191	181					14																	20295816		2203	4297	6500	SO:0001583	missense	390429				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20295816A>G		CCDS32022.1	14q11.2	2013-09-23				ENSG00000176294		"GPCR / Class A : Olfactory receptors"	14742	protein-coding gene	gene with protein product							Standard	NM_001004723		Approved		uc010tkv.2	Q8NGD1		ENST00000315947.1:c.209A>G	14.37:g.20295816A>G	ENSP00000319601:p.Asp70Gly					OR4N2_ENST00000315947.1_Missense_Mutation_p.D70G	p.D70G			Q8NGD1	OR4N2_HUMAN	Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)	1	209	+	all_cancers(95;0.00108)		70					Q6IEY9|Q6IFA2	Missense_Mutation	SNP	ENST00000315947.1	37	c.209A>G	CCDS32022.1	.	.	.	.	.	.	.	.	.	.	.	20.2	3.950956	0.73787	.	.	ENSG00000176294	ENST00000557677;ENST00000315947	T;T	0.01172	5.23;5.23	4.3	4.3	0.51218	GPCR, rhodopsin-like superfamily (1);	0.000000	0.50627	D	0.000117	T	0.08935	0.0221	H	0.94423	3.535	0.41853	D	0.990185	D	0.69078	0.997	D	0.64042	0.921	T	0.00536	-1.1683	10	0.87932	D	0	-9.9015	11.7038	0.51585	1.0:0.0:0.0:0.0	.	70	Q8NGD1	OR4N2_HUMAN	G	70	ENSP00000452022:D70G;ENSP00000319601:D70G	ENSP00000319601:D70G	D	+	2	0	OR4N2	19365656	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	6.615000	0.74201	1.922000	0.55676	0.482000	0.46254	GAT		0.488	OR4N2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409821.2			28	145	0	0	0	1	0	28	145					G	20295816	A	G	20295816	3	3	286	1	0	0	0	0	1	0	0	0	11077	333	12	4	211	4	OR4N2	14	20295816	Missense_Mutation	SNP	A	TCGA-J9-A52C-01A-11D-A26M-08		20295816	87053724	447	13577											
MYH6	4624	broad.mit.edu	37	chr14	23868103	23868103	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tggatcagggagaagtgggcTtcctgcttccccttgatgtt	6	13	13	9	0	1	2	1	1	0	1	3	4	3	3	3	3	1	3	3	3	1	4			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr14:23868103T>G	ENST00000356287.3	-	14	1754	c.1725A>C	c.(1723-1725)gaA>gaC	p.E575D	MYH6_ENST00000405093.3_Missense_Mutation_p.E575D			P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	575	Myosin motor.				adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|atrial cardiac muscle tissue morphogenesis (GO:0055009)|BMP signaling pathway (GO:0030509)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle fiber development (GO:0048739)|in utero embryonic development (GO:0001701)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|myofibril assembly (GO:0030239)|regulation of ATPase activity (GO:0043462)|regulation of blood pressure (GO:0008217)|regulation of heart contraction (GO:0008016)|regulation of heart growth (GO:0060420)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|sarcomere organization (GO:0045214)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visceral muscle development (GO:0007522)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin complex (GO:0016459)|myosin filament (GO:0032982)|nucleus (GO:0005634)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|protein kinase binding (GO:0019901)			breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		AGAAGTGGGCTTCCTGCTTCC	0.547																																						ENST00000405093.3																			0				breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119						c.(1723-1725)gaA>gaC		myosin, heavy chain 6, cardiac muscle, alpha							241	183	203					14																	23868103		2203	4300	6503	SO:0001583	missense	4624				adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle	g.chr14:23868103T>G	D00943	CCDS9600.1	14q11.2-q13	2014-09-17	2008-08-01		ENSG00000197616	ENSG00000197616		"Myosins / Myosin superfamily : Class II"	7576	protein-coding gene	gene with protein product	"cardiomyopathy, hypertrophic 1"	160710	"myosin, heavy polypeptide 6, cardiac muscle, alpha (cardiomyopathy, hypertrophic 1)"			2144212	Standard	NM_002471		Approved		uc001wjv.3	P13533	OTTHUMG00000028753	ENST00000356287.3:c.1725A>C	14.37:g.23868103T>G	ENSP00000348634:p.Glu575Asp					MYH6_ENST00000356287.3_Missense_Mutation_p.E575D	p.E575D	NM_002471.3	NP_002462.2	P13533	MYH6_HUMAN		GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)	15	1795	-	all_cancers(95;2.54e-05)		575			Myosin head-like.		A2RTX1|D9YZU2|Q13943|Q14906|Q14907	Missense_Mutation	SNP	ENST00000356287.3	37	c.1725A>C	CCDS9600.1	.	.	.	.	.	.	.	.	.	.	.	18.85	3.712307	0.68730	.	.	ENSG00000197616	ENST00000405093;ENST00000356287	D;D	0.87412	-2.25;-2.25	4.61	-0.431	0.12295	Myosin head, motor domain (2);	.	.	.	.	D	0.88775	0.6528	L	0.43923	1.385	0.47511	D	0.999446	P	0.51933	0.949	D	0.77557	0.99	D	0.85673	0.1296	9	0.72032	D	0.01	.	8.9383	0.35713	0.0:0.5857:0.0:0.4143	.	575	P13533	MYH6_HUMAN	D	575	ENSP00000386041:E575D;ENSP00000348634:E575D	ENSP00000348634:E575D	E	-	3	2	MYH6	22937943	0.991000	0.36638	0.985000	0.45067	0.705000	0.40729	0.281000	0.18810	-0.021000	0.14009	0.533000	0.62120	GAA		0.547	MYH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071796.3			10	40	0	0	0	1	0	10	40					G	23868103	T	G	23868103	3	3	286	1	0	0	0	0	1	0	0	0	10038	1606	56	5	4194	5	MYH6	14	23868103	Missense_Mutation	SNP	T	TCGA-J9-A52C-01A-11D-A26M-08	3572287	23868103	83481437	448	13578											
AP1G2	8906	broad.mit.edu	37	chr14	24031220	24031220	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtcatactccacagcccgctGctgcagctccacgtccaagc	8	7	8	18	2	1	0	1	0	0	0	4	0	4	0	4	0	6	4	4	0	2	1			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr14:24031220G>A	ENST00000308724.5	-	16	2439	c.1684C>T	c.(1684-1686)Cag>Tag	p.Q562*	AP1G2_ENST00000397120.3_Nonsense_Mutation_p.Q562*|RP11-66N24.3_ENST00000555968.1_RNA|RP11-66N24.4_ENST00000556354.1_RNA|RP11-66N24.4_ENST00000553985.1_RNA|AP1G2_ENST00000556277.1_5'Flank	NM_003917.2	NP_003908.1	O75843	AP1G2_HUMAN	adaptor-related protein complex 1, gamma 2 subunit	562					intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)|viral process (GO:0016032)	AP-1 adaptor complex (GO:0030121)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|Golgi-associated vesicle (GO:0005798)|membrane (GO:0016020)|transport vesicle (GO:0030133)	protein transporter activity (GO:0008565)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(10)|lung(4)|ovary(1)|pancreas(1)|stomach(1)	28	all_cancers(95;0.000251)			GBM - Glioblastoma multiforme(265;0.00672)		ACAGCCCGCTGCTGCAGCTCC	0.602											OREG0022605	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000308724.5																			0				breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(10)|lung(4)|ovary(1)|pancreas(1)|stomach(1)	28						c.(1684-1686)Cag>Tag		adaptor-related protein complex 1, gamma 2 subunit							58	48	51					14																	24031220		2203	4300	6503	SO:0001587	stop_gained	8906				interspecies interaction between organisms|intracellular protein transport|vesicle-mediated transport	AP-1 adaptor complex|endosome membrane	protein binding|protein transporter activity	g.chr14:24031220G>A	AB015318	CCDS9602.1	14q11.2	2008-07-03			ENSG00000213983	ENSG00000213983			556	protein-coding gene	gene with protein product		603534				9733768, 9762922	Standard	XM_005268167		Approved	G2AD	uc001wkl.2	O75843	OTTHUMG00000028760	ENST00000308724.5:c.1684C>T	14.37:g.24031220G>A	ENSP00000312442:p.Gln562*		OREG0022605	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	768	RP11-66N24.3_ENST00000555968.1_RNA|AP1G2_ENST00000397120.3_Nonsense_Mutation_p.Q562*	p.Q562*	NM_003917.2	NP_003908.1	O75843	AP1G2_HUMAN		GBM - Glioblastoma multiforme(265;0.00672)	16	2439	-	all_cancers(95;0.000251)		562					D3DS51|O75504	Nonsense_Mutation	SNP	ENST00000308724.5	37	c.1684C>T	CCDS9602.1	.	.	.	.	.	.	.	.	.	.	G	45	11.644087	0.99586	.	.	ENSG00000213983	ENST00000308724;ENST00000397120;ENST00000545295;ENST00000535852	.	.	.	4.94	4.94	0.65067	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-17.5373	15.7009	0.77541	0.0:0.0:1.0:0.0	.	.	.	.	X	562;562;331;417	.	ENSP00000312442:Q562X	Q	-	1	0	AP1G2	23101060	1.000000	0.71417	1.000000	0.80357	0.832000	0.47134	8.799000	0.91895	2.584000	0.87258	0.462000	0.41574	CAG		0.602	AP1G2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071812.4	NM_003917		7	20	0	0	0	1	0	7	20					A	24031220	G	A	24031220	4	1	286	1	0	0	0	0	0	1	0	0	733	1328	46	3	697	3	AP1G2	14	24031220	Nonsense_Mutation	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	163117	24031220	83318320	449	13579											
CPNE6	9362	broad.mit.edu	37	chr14	24545427	24545427	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctgcactgcctcagtcccCgacagcccaaccactacctg	8	6	6	21	1	1	0	1	0	0	0	2	1	2	0	7	0	5	1	7	0	2	1			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr14:24545427C>T	ENST00000397016.2	+	12	1305	c.994C>T	c.(994-996)Cga>Tga	p.R332*	CPNE6_ENST00000537691.1_Nonsense_Mutation_p.R387*|CPNE6_ENST00000216775.2_Nonsense_Mutation_p.R332*	NM_001280558.1	NP_001267487.1	O95741	CPNE6_HUMAN	copine VI (neuronal)	332	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				lipid metabolic process (GO:0006629)|nervous system development (GO:0007399)|synaptic transmission (GO:0007268)|vesicle-mediated transport (GO:0016192)	axon (GO:0030424)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|phosphatidylserine binding (GO:0001786)|transporter activity (GO:0005215)			endometrium(4)|large_intestine(3)|liver(2)|lung(5)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	22				GBM - Glioblastoma multiforme(265;0.0184)		CCTCAGTCCCCGACAGCCCAA	0.647																																						ENST00000397016.2																			0				endometrium(4)|large_intestine(3)|liver(2)|lung(5)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	22						c.(994-996)Cga>Tga		copine VI (neuronal)							57	55	55					14																	24545427		2203	4300	6503	SO:0001587	stop_gained	9362				lipid metabolic process|nervous system development|synaptic transmission|vesicle-mediated transport		calcium ion binding|transporter activity	g.chr14:24545427C>T	AB009288	CCDS9607.1, CCDS61413.1	14q11.2	2008-07-09			ENSG00000100884	ENSG00000100884			2319	protein-coding gene	gene with protein product		605688				9645480	Standard	NM_001280558		Approved		uc001wll.3	O95741	OTTHUMG00000028781	ENST00000397016.2:c.994C>T	14.37:g.24545427C>T	ENSP00000380211:p.Arg332*					CPNE6_ENST00000216775.2_Nonsense_Mutation_p.R332*|CPNE6_ENST00000537691.1_Nonsense_Mutation_p.R387*	p.R332*			O95741	CPNE6_HUMAN		GBM - Glioblastoma multiforme(265;0.0184)	12	1305	+			332			VWFA.		B2RAG6|B7Z1M3|D3DS55|F5GXN1|Q53HA6|Q8WVG1	Nonsense_Mutation	SNP	ENST00000397016.2	37	c.994C>T	CCDS9607.1	.	.	.	.	.	.	.	.	.	.	C	38	6.849732	0.97885	.	.	ENSG00000100884	ENST00000537691;ENST00000397016;ENST00000216775	.	.	.	4.91	3.98	0.46160	.	0.000000	0.42172	D	0.000743	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.28530	T	0.3	-28.2321	6.1396	0.20253	0.1864:0.7192:0.0:0.0944	.	.	.	.	X	387;332;332	.	ENSP00000216775:R332X	R	+	1	2	CPNE6	23615267	0.006000	0.16342	1.000000	0.80357	0.984000	0.73092	0.317000	0.19487	2.549000	0.85964	0.563000	0.77884	CGA		0.647	CPNE6-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071869.5			11	32	0	0	0	1	0	11	32					T	24545427	C	T	24545427	4	4	286	1	0	0	0	0	0	1	0	0	3816	644	23	2	1032	2	CPNE6	14	24545427	Nonsense_Mutation	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	514207	24545427	82804113	450	13580											
NYNRIN	57523	broad.mit.edu	37	chr14	24877090	24877090	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cccaggaatacctgaagggcCtgtgcagcccagagctgtgg	9	6	14	12	0	0	2	0	1	0	1	0	3	0	3	4	3	4	2	4	3	3	1			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr14:24877090C>A	ENST00000382554.3	+	3	532	c.214C>A	c.(214-216)Ctg>Atg	p.L72M		NM_025081.2	NP_079357.2	Q9P2P1	NYNRI_HUMAN	NYN domain and retroviral integrase containing	72					DNA integration (GO:0015074)	integral component of membrane (GO:0016021)	nucleic acid binding (GO:0003676)			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						CCTGAAGGGCCTGTGCAGCCC	0.627																																						ENST00000382554.3																			0				breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						c.(214-216)Ctg>Atg		NYN domain and retroviral integrase containing							68	72	71					14																	24877090		2031	4192	6223	SO:0001583	missense	57523				DNA integration	integral to membrane	DNA binding	g.chr14:24877090C>A	AB037726	CCDS45090.1	14q11.2	2009-10-14	2009-10-14	2009-10-14		ENSG00000205978			20165	protein-coding gene	gene with protein product	"Cousin of GIN1"		"KIAA1305"	KIAA1305		19561090, 17114934	Standard	NM_025081		Approved	FLJ11811, CGIN1	uc001wpf.4	Q9P2P1		ENST00000382554.3:c.214C>A	14.37:g.24877090C>A	ENSP00000371994:p.Leu72Met						p.L72M	NM_025081.2	NP_079357.2	Q9P2P1	NYNRI_HUMAN			3	532	+			72					Q6P153|Q86TR3|Q9HAC4	Missense_Mutation	SNP	ENST00000382554.3	37	c.214C>A	CCDS45090.1	.	.	.	.	.	.	.	.	.	.	C	16.15	3.042273	0.55003	.	.	ENSG00000205978	ENST00000382554	T	0.22539	1.95	4.46	4.46	0.54185	.	0.185553	0.23343	U	0.049219	T	0.45357	0.1338	M	0.72894	2.215	0.26018	N	0.981903	D	0.76494	0.999	D	0.75484	0.986	T	0.31668	-0.9935	10	0.87932	D	0	.	14.6529	0.68811	0.0:1.0:0.0:0.0	.	72	Q9P2P1	NYNRI_HUMAN	M	72	ENSP00000371994:L72M	ENSP00000371994:L72M	L	+	1	2	NYNRIN	23946930	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	4.082000	0.57635	2.306000	0.77630	0.563000	0.77884	CTG		0.627	NYNRIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412939.1			16	81	1	0	2.35188e-11	1	2.42184e-11	16	81					A	24877090	C	A	24877090	3	1	286	1	0	0	0	0	1	0	0	0	10796	680	24	5	220	5	NYNRIN	14	24877090	Missense_Mutation	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	331663	24877090	82472450	451	13581											
TRAPPC6B	122553	broad.mit.edu	37	chr14	39623467	39623467	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagacatctgagtaagcaggCgaaatttgttgtcctgaagt	12	11	11	7	1	1	3	0	2	1	1	2	4	2	3	1	1	1	3	1	1	3	3			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr14:39623467C>T	ENST00000330149.5	-	4	525	c.299G>A	c.(298-300)cGc>cAc	p.R100H	TRAPPC6B_ENST00000347691.5_Intron|TRAPPC6B_ENST00000557764.1_5'UTR	NM_001079537.1	NP_001073005.1	Q86SZ2	TPC6B_HUMAN	trafficking protein particle complex 6B	100					vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)				large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0128)		AGTAAGCAGGCGAAATTTGTT	0.333																																						ENST00000330149.5																			0				large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4						c.(298-300)cGc>cAc		trafficking protein particle complex 6B							102	92	95					14																	39623467		1829	4085	5914	SO:0001583	missense	122553				vesicle-mediated transport	endoplasmic reticulum|Golgi apparatus	guanylate cyclase activity|heme binding	g.chr14:39623467C>T	AK025437	CCDS9670.1, CCDS41947.1	14q13.3	2011-10-10			ENSG00000182400	ENSG00000182400		"Trafficking protein particle complex"	23066	protein-coding gene	gene with protein product		610397					Standard	NM_177452		Approved		uc001wut.1	Q86SZ2	OTTHUMG00000140259	ENST00000330149.5:c.299G>A	14.37:g.39623467C>T	ENSP00000330289:p.Arg100His					TRAPPC6B_ENST00000557764.1_5'UTR|TRAPPC6B_ENST00000347691.5_Intron	p.R100H	NM_001079537.1	NP_001073005.1	Q86SZ2	TPC6B_HUMAN	LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0128)	4	525	-	Hepatocellular(127;0.213)		100					B3KPS2|Q5JPD6|Q86U35|Q86X35	Missense_Mutation	SNP	ENST00000330149.5	37	c.299G>A	CCDS41947.1	.	.	.	.	.	.	.	.	.	.	C	16.66	3.186105	0.57909	.	.	ENSG00000182400	ENST00000330149	T	0.44482	0.92	6.08	5.19	0.71726	NO signalling/Golgi transport  ligand-binding domain (1);	0.222920	0.47455	D	0.000224	T	0.67239	0.2872	M	0.90309	3.105	0.80722	D	1	D;P	0.69078	0.997;0.66	P;B	0.60789	0.879;0.134	T	0.70908	-0.4744	10	0.44086	T	0.13	-23.4208	15.8169	0.78608	0.0:0.9341:0.0:0.0659	.	38;100	B4DFZ8;Q86SZ2	.;TPC6B_HUMAN	H	100	ENSP00000330289:R100H	ENSP00000330289:R100H	R	-	2	0	TRAPPC6B	38693218	0.822000	0.29219	1.000000	0.80357	0.994000	0.84299	1.539000	0.36104	2.894000	0.99253	0.591000	0.81541	CGC		0.333	TRAPPC6B-002	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276775.1	NM_177452		4	11	0	0	0	1	0	4	11					T	39623467	C	T	39623467	3	4	286	1	0	0	0	0	1	0	0	0	16461	768	27	1	189	1	TRAPPC6B	14	39623467	Missense_Mutation	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	14746377	39623467	67726073	452	13582											
NID2	22795	broad.mit.edu	37	chr14	52481974	52481974	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctccagcgctcacagatggtCgggggcctctgggtgggctc	4	8	16	13	2	2	1	1	0	1	1	5	1	3	1	2	5	1	2	2	5	0	0			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr14:52481974C>T	ENST00000216286.5	-	15	3047	c.3048G>A	c.(3046-3048)ccG>ccA	p.P1016P	NID2_ENST00000541773.1_Silent_p.P915P	NM_007361.3	NP_031387.3	Q14112	NID2_HUMAN	nidogen 2 (osteonidogen)	1016	Thyroglobulin type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00500}.				basement membrane organization (GO:0071711)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|cell surface (GO:0009986)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)			NS(1)|breast(5)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(40)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	87	Breast(41;0.0639)|all_epithelial(31;0.123)					CACAGATGGTCGGGGGCCTCT	0.577																																						ENST00000216286.5																			0				NS(1)|breast(5)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(40)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	87						c.(3046-3048)ccG>ccA		nidogen 2 (osteonidogen)							32	33	33					14																	52481974		2199	4298	6497	SO:0001819	synonymous_variant	22795					basement membrane	calcium ion binding|collagen binding	g.chr14:52481974C>T	AB009799	CCDS9706.1	14q22.1	2008-05-14			ENSG00000087303	ENSG00000087303			13389	protein-coding gene	gene with protein product		605399				9733643	Standard	NM_007361		Approved		uc001wzo.3	Q14112	OTTHUMG00000140298	ENST00000216286.5:c.3048G>A	14.37:g.52481974C>T						NID2_ENST00000541773.1_Silent_p.P915P	p.P1016P	NM_007361.3	NP_031387.3	Q14112	NID2_HUMAN			15	3047	-	Breast(41;0.0639)|all_epithelial(31;0.123)		1016			Thyroglobulin type-1 2.		A8K6I7|B4DU19|O43710	Silent	SNP	ENST00000216286.5	37	c.3048G>A	CCDS9706.1	.	.	.	.	.	.	.	.	.	.	C	6.166	0.398820	0.11696	.	.	ENSG00000087303	ENST00000556572	.	.	.	6.03	0.977	0.19733	.	.	.	.	.	T	0.57431	0.2053	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.49072	-0.8977	4	.	.	.	.	9.3582	0.38179	0.0:0.5466:0.3305:0.1228	.	.	.	.	N	285	.	.	D	-	1	0	NID2	51551724	0.001000	0.12720	0.013000	0.15412	0.772000	0.43724	-0.112000	0.10791	-0.085000	0.12573	-0.885000	0.02943	GAC		0.577	NID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276888.1			9	47	0	0	0	1	0	9	47					T	52481974	C	T	52481974	2	4	286	1	0	0	0	0	0	0	0	1	10415	871	31	2		2	NID2	14	52481974	Silent	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	12858507	52481974	54867566	453	13583											
FBXO34	55030	broad.mit.edu	37	chr14	55818654	55818654	+	Frame_Shift_Del	DEL	G	G	-																															gccagcttgaagatgctgctGggggtgacagtgcatctgag																										TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr14:55818654delG	ENST00000313833.4	+	2	1791	c.1546delG	c.(1546-1548)gggfs	p.G517fs	FBXO34_ENST00000440021.1_Frame_Shift_Del_p.G517fs	NM_017943.3	NP_060413.2	Q9NWN3	FBX34_HUMAN	F-box protein 34	517										breast(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(3)	22						AGATGCTGCTGGGGGTGACAG	0.488																																						ENST00000313833.4																			0				breast(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(3)	22						c.(1546-1548)ggfs		F-box protein 34							115	116	116					14																	55818654		2203	4300	6503	SO:0001589	frameshift_variant	55030							g.chr14:55818654delG	AK000732	CCDS32086.1	14q22.1	2004-08-24	2004-06-15			ENSG00000178974		"F-boxes /  "other""	20201	protein-coding gene	gene with protein product		609104	"F-box only protein 34"				Standard	NM_017943		Approved	FLJ20725, Fbx34	uc010aoo.3	Q9NWN3		ENST00000313833.4:c.1546delG	14.37:g.55818654delG	ENSP00000313159:p.Gly517fs					FBXO34_ENST00000440021.1_Frame_Shift_Del_p.G517fs	p.G517fs	NM_017943.3	NP_060413.2	Q9NWN3	FBX34_HUMAN			2	1791	+			517					Q2VPB5|Q4VBP5|Q86TY4	Frame_Shift_Del	DEL	ENST00000313833.4	37	c.1546delG	CCDS32086.1																																																																																				0.488	FBXO34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411322.1			32	138						32	138	---	---	---	---	-	55818654	G	-	55818654	7	5	286	1	0	1	0	1	0	0	0	0	5744	1348	47	0	1548	0	FBXO34	14	55818654	Frame_Shift_Del	DEL	G	TCGA-J9-A52C-01A-11D-A26M-08	3336680	55818654	51530886	454	13584											
PRKCH	5583	broad.mit.edu	37	chr14	61924008	61924008	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgacaactttgagttcatcCgagtgttggggaaggggagt	9	11	15	6	2	1	1	1	1	0	0	3	5	2	3	1	4	1	2	1	4	2	3			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr14:61924008C>T	ENST00000332981.5	+	8	1460	c.1075C>T	c.(1075-1077)Cga>Tga	p.R359*	PRKCH_ENST00000555082.1_Nonsense_Mutation_p.R198*	NM_006255.3	NP_006246.2	P24723	KPCL_HUMAN	protein kinase C, eta	359	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		R -> Q (in dbSNP:rs55818778). {ECO:0000269|PubMed:17344846}.		blood coagulation (GO:0007596)|negative regulation of glial cell apoptotic process (GO:0034351)|platelet activation (GO:0030168)|positive regulation of B cell receptor signaling pathway (GO:0050861)|positive regulation of glial cell proliferation (GO:0060252)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein kinase C signaling (GO:0070528)|protein phosphorylation (GO:0006468)|regulation of tight junction assembly (GO:2000810)|signal transduction (GO:0007165)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium-independent protein kinase C activity (GO:0004699)|enzyme binding (GO:0019899)|metal ion binding (GO:0046872)|protein kinase C activity (GO:0004697)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(4)|ovary(2)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25				OV - Ovarian serous cystadenocarcinoma(108;0.045)|BRCA - Breast invasive adenocarcinoma(234;0.0906)|KIRC - Kidney renal clear cell carcinoma(182;0.182)		TGAGTTCATCCGAGTGTTGGG	0.488																																					Melanoma(135;863 1779 8064 14443 26348)	ENST00000332981.5																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(4)|ovary(2)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25						c.(1075-1077)Cga>Tga		protein kinase C, eta							160	156	158					14																	61924008		2203	4300	6503	SO:0001587	stop_gained	5583				intracellular signal transduction|platelet activation	cytosol|plasma membrane	ATP binding|enzyme binding|metal ion binding|protein kinase C activity	g.chr14:61924008C>T	M55284	CCDS9752.1	14q23.1	2009-07-10			ENSG00000027075	ENSG00000027075	2.7.11.1		9403	protein-coding gene	gene with protein product		605437		PRKCL		1986216, 1545821	Standard	NM_006255		Approved	PKC-L, PKCL	uc001xfn.3	P24723	OTTHUMG00000152341	ENST00000332981.5:c.1075C>T	14.37:g.61924008C>T	ENSP00000329127:p.Arg359*					PRKCH_ENST00000555082.1_Nonsense_Mutation_p.R198*	p.R359*	NM_006255.3	NP_006246.2	P24723	KPCL_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.045)|BRCA - Breast invasive adenocarcinoma(234;0.0906)|KIRC - Kidney renal clear cell carcinoma(182;0.182)	8	1460	+			359		R -> Q (in dbSNP:rs55818778).	Protein kinase.		B4DJN5|Q16246|Q8NE03	Nonsense_Mutation	SNP	ENST00000332981.5	37	c.1075C>T	CCDS9752.1	.	.	.	.	.	.	.	.	.	.	C	41	8.998305	0.99031	.	.	ENSG00000027075	ENST00000332981;ENST00000555082;ENST00000557585	.	.	.	5.59	5.59	0.84812	.	0.000000	0.56097	D	0.000023	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.26408	T	0.33	.	15.228	0.73364	0.1411:0.8589:0.0:0.0	.	.	.	.	X	359;198;198	.	ENSP00000329127:R359X	R	+	1	2	PRKCH	60993761	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	2.148000	0.42235	2.639000	0.89480	0.655000	0.94253	CGA		0.488	PRKCH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276974.2	NM_006255		13	65	0	0	0	1	0	13	65					T	61924008	C	T	61924008	4	4	286	1	0	0	0	0	0	1	0	0	12513	644	23	2	1105	2	PRKCH	14	61924008	Nonsense_Mutation	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	6105354	61924008	45425532	455	13585											
HIF1A	3091	broad.mit.edu	37	chr14	62200950	62200950	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	actcaagcaactgtcatataTaacaccaagaattctcaacc	17	9	3	12	0	3	1	3	0	1	1	4	1	3	1	2	0	4	1	2	0	8	4			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr14:62200950T>C	ENST00000337138.4	+	8	1240	c.975T>C	c.(973-975)taT>taC	p.Y325Y	HIF1A_ENST00000394997.1_Silent_p.Y326Y|HIF1A_ENST00000539097.1_Silent_p.Y349Y|HIF1A_ENST00000557538.1_Silent_p.Y266Y|RP11-618G20.1_ENST00000555937.1_RNA|HIF1A_ENST00000323441.6_Silent_p.Y325Y|HIF1A-AS2_ENST00000554254.1_lincRNA	NM_001530.3	NP_001521.1	Q16665	HIF1A_HUMAN	hypoxia inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor)	325	Interaction with TSGA10. {ECO:0000250}.|PAC.				angiogenesis (GO:0001525)|axon transport of mitochondrion (GO:0019896)|B-1 B cell homeostasis (GO:0001922)|cardiac ventricle morphogenesis (GO:0003208)|cartilage development (GO:0051216)|cellular iron ion homeostasis (GO:0006879)|cellular response to hypoxia (GO:0071456)|cellular response to interleukin-1 (GO:0071347)|cerebral cortex development (GO:0021987)|collagen metabolic process (GO:0032963)|connective tissue replacement involved in inflammatory response wound healing (GO:0002248)|digestive tract morphogenesis (GO:0048546)|dopaminergic neuron differentiation (GO:0071542)|elastin metabolic process (GO:0051541)|embryonic hemopoiesis (GO:0035162)|embryonic placenta development (GO:0001892)|epithelial cell differentiation involved in mammary gland alveolus development (GO:0061030)|epithelial to mesenchymal transition (GO:0001837)|glucose homeostasis (GO:0042593)|heart looping (GO:0001947)|hemoglobin biosynthetic process (GO:0042541)|intestinal epithelial cell maturation (GO:0060574)|lactate metabolic process (GO:0006089)|lactation (GO:0007595)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|muscle cell cellular homeostasis (GO:0046716)|negative regulation of bone mineralization (GO:0030502)|negative regulation of growth (GO:0045926)|negative regulation of mesenchymal cell apoptotic process (GO:2001054)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903377)|negative regulation of thymocyte apoptotic process (GO:0070244)|negative regulation of TOR signaling (GO:0032007)|neural crest cell migration (GO:0001755)|neural fold elevation formation (GO:0021502)|Notch signaling pathway (GO:0007219)|outflow tract morphogenesis (GO:0003151)|oxygen homeostasis (GO:0032364)|positive regulation of angiogenesis (GO:0045766)|positive regulation of chemokine production (GO:0032722)|positive regulation of chemokine-mediated signaling pathway (GO:0070101)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of glycolytic process (GO:0045821)|positive regulation of hormone biosynthetic process (GO:0046886)|positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0035774)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of receptor biosynthetic process (GO:0010870)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061419)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of gene expression (GO:0010468)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0043619)|regulation of transcription, DNA-templated (GO:0006355)|regulation of transforming growth factor beta2 production (GO:0032909)|response to hypoxia (GO:0001666)|response to muscle activity (GO:0014850)|retina vasculature development in camera-type eye (GO:0061298)|signal transduction (GO:0007165)|vascular endothelial growth factor production (GO:0010573)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|motile cilium (GO:0031514)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|Hsp90 protein binding (GO:0051879)|nuclear hormone receptor binding (GO:0035257)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription factor binding (GO:0008134)|transcription factor binding transcription factor activity (GO:0000989)|ubiquitin protein ligase binding (GO:0031625)			breast(2)|endometrium(8)|kidney(6)|large_intestine(3)|lung(4)	23				OV - Ovarian serous cystadenocarcinoma(108;1.62e-09)|BRCA - Breast invasive adenocarcinoma(234;0.189)	Carvedilol(DB01136)	CTGTCATATATAACACCAAGA	0.383																																						ENST00000394997.1																			0				breast(2)|endometrium(8)|kidney(6)|large_intestine(3)|lung(4)	23						c.(976-978)taT>taC		hypoxia inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor)							118	105	109					14																	62200950		2203	4300	6503	SO:0001819	synonymous_variant	3091				cellular response to hypoxia|collagen metabolic process|connective tissue replacement involved in inflammatory response wound healing|elastin metabolic process|epithelial to mesenchymal transition|oxygen homeostasis|positive regulation of chemokine production|positive regulation of epithelial cell migration|positive regulation of hormone biosynthetic process|positive regulation of nitric-oxide synthase activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation vascular endothelial growth factor production|regulation of transcription from RNA polymerase II promoter in response to oxidative stress|regulation of transforming growth factor-beta2 production	cytoplasm|nucleolus|transcription factor complex	histone acetyltransferase binding|Hsp90 protein binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|signal transducer activity|transcription factor binding|transcription regulatory region DNA binding	g.chr14:62200950T>C	U22431	CCDS9753.1, CCDS9754.1, CCDS58324.1	14q23.2	2013-05-21	2008-12-02		ENSG00000100644	ENSG00000100644		"Basic helix-loop-helix proteins"	4910	protein-coding gene	gene with protein product		603348				8786149, 9079689	Standard	NM_001530		Approved	MOP1, HIF-1alpha, PASD8, HIF1, bHLHe78	uc001xfq.2	Q16665	OTTHUMG00000140344	ENST00000337138.4:c.975T>C	14.37:g.62200950T>C						HIF1A_ENST00000539097.1_Silent_p.Y349Y|HIF1A_ENST00000337138.4_Silent_p.Y325Y|RP11-618G20.1_ENST00000555937.1_RNA|HIF1A-AS2_ENST00000554254.1_lincRNA|HIF1A_ENST00000323441.6_Silent_p.Y325Y|HIF1A_ENST00000557538.1_Silent_p.Y266Y	p.Y326Y			Q16665	HIF1A_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;1.62e-09)|BRCA - Breast invasive adenocarcinoma(234;0.189)	8	1243	+			325			Interaction with TSGA10 (By similarity).|PAC.		C0LZJ3|Q53XP6|Q96PT9|Q9UPB1	Silent	SNP	ENST00000337138.4	37	c.978T>C	CCDS9753.1																																																																																				0.383	HIF1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000276977.2	NM_001530		8	31	0	0	0	1	0	8	31					C	62200950	T	C	62200950	2	2	286	1	0	0	0	0	0	0	0	1	7103	1413	49	4		4	HIF1A	14	62200950	Silent	SNP	T	TCGA-J9-A52C-01A-11D-A26M-08	276942	62200950	45148590	456	13586											
SPTB	6710	broad.mit.edu	37	chr14	65237622	65237622	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cctgggcctctcctgggtctCgatctgccggatgatgctct	3	12	12	14	2	4	1	0	1	4	0	6	3	4	2	4	3	2	1	4	3	0	0			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr14:65237622C>T	ENST00000389721.5	-	26	5811	c.5779G>A	c.(5779-5781)Gag>Aag	p.E1927K	SPTB_ENST00000542895.1_Missense_Mutation_p.E1927K|SPTB_ENST00000389720.3_Missense_Mutation_p.E1927K|SPTB_ENST00000556626.1_Missense_Mutation_p.E1927K|SPTB_ENST00000389722.3_Missense_Mutation_p.E1927K	NM_000347.5	NP_000338.3	P11277	SPTB1_HUMAN	spectrin, beta, erythrocytic	1927					actin filament capping (GO:0051693)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)	actin cytoskeleton (GO:0015629)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|protein complex (GO:0043234)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ankyrin binding (GO:0030506)|structural constituent of cytoskeleton (GO:0005200)			breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		TCCTGGGTCTCGATCTGCCGG	0.647																																						ENST00000389722.3																			0				breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106						c.(5779-5781)Gag>Aag		spectrin, beta, erythrocytic							49	52	51					14																	65237622		2203	4300	6503	SO:0001583	missense	6710				actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton	g.chr14:65237622C>T		CCDS32099.1, CCDS32100.1	14q24.1-q24.2	2013-01-10	2008-07-29			ENSG00000070182		"Pleckstrin homology (PH) domain containing"	11274	protein-coding gene	gene with protein product	"spherocytosis, clinical type I"	182870				2209094	Standard	NM_001024858		Approved		uc001xhr.3	P11277		ENST00000389721.5:c.5779G>A	14.37:g.65237622C>T	ENSP00000374371:p.Glu1927Lys					SPTB_ENST00000556626.1_Missense_Mutation_p.E1927K|SPTB_ENST00000389720.3_Missense_Mutation_p.E1927K|SPTB_ENST00000389721.5_Missense_Mutation_p.E1927K|SPTB_ENST00000542895.1_Missense_Mutation_p.E1927K	p.E1927K	NM_001024858.2	NP_001020029.1	P11277	SPTB1_HUMAN		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)	26	5832	-		all_lung(585;4.15e-09)	1927					Q15510|Q15519	Missense_Mutation	SNP	ENST00000389721.5	37	c.5779G>A	CCDS32100.1	.	.	.	.	.	.	.	.	.	.	C	17.28	3.349190	0.61183	.	.	ENSG00000070182	ENST00000389723;ENST00000389722;ENST00000335612;ENST00000553938;ENST00000556626;ENST00000389721;ENST00000542895;ENST00000389720	T;T;T;T;T;T	0.49139	0.79;0.79;0.79;0.79;0.79;0.79	5.14	5.14	0.70334	.	0.052330	0.85682	D	0.000000	T	0.55768	0.1941	L	0.48642	1.525	0.80722	D	1	P;D;D	0.59767	0.902;0.986;0.969	B;P;B	0.54174	0.254;0.744;0.295	T	0.55780	-0.8087	10	0.48119	T	0.1	.	17.7319	0.88380	0.0:1.0:0.0:0.0	.	711;1927;1931	E7EV95;P11277;Q59FP5	.;SPTB1_HUMAN;.	K	1931;1927;711;592;1927;1927;1927;1927	ENSP00000374372:E1927K;ENSP00000451324:E592K;ENSP00000451752:E1927K;ENSP00000374371:E1927K;ENSP00000443882:E1927K;ENSP00000374370:E1927K	ENSP00000334218:E711K	E	-	1	0	SPTB	64307375	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	4.957000	0.63652	2.541000	0.85698	0.462000	0.41574	GAG		0.647	SPTB-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000414080.1			9	56	0	0	0	1	0	9	56					T	65237622	C	T	65237622	3	4	286	1	0	0	0	0	1	0	0	0	15117	893	31	2	1316	2	SPTB	14	65237622	Missense_Mutation	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	3036672	65237622	42111918	457	13587											
SPTB	6710	broad.mit.edu	37	chr14	65260131	65260131	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccttcaggtcatccgcatcGccctggaactggaaaaagtt	10	9	10	12	2	2	0	2	0	0	0	4	2	3	2	3	3	1	2	3	3	3	2	rs200908449		TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr14:65260131G>A	ENST00000389721.5	-	13	2282	c.2250C>T	c.(2248-2250)ggC>ggT	p.G750G	SPTB_ENST00000542895.1_Silent_p.G750G|SPTB_ENST00000389720.3_Silent_p.G750G|SPTB_ENST00000556626.1_Silent_p.G750G|SPTB_ENST00000389722.3_Silent_p.G750G	NM_000347.5	NP_000338.3	P11277	SPTB1_HUMAN	spectrin, beta, erythrocytic	750					actin filament capping (GO:0051693)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)	actin cytoskeleton (GO:0015629)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|protein complex (GO:0043234)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ankyrin binding (GO:0030506)|structural constituent of cytoskeleton (GO:0005200)			breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		CATCCGCATCGCCCTGGAACT	0.602													G|||	1	0.000199681	0	0	5008	,	,		19645	0		0	False		,,,				2504	0.001					ENST00000389722.3																			0				breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106						c.(2248-2250)ggC>ggT		spectrin, beta, erythrocytic		G	,	0,4406		0,0,2203	46	44	45		2250,2250	-9.4	0.3	14		45	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	SPTB	NM_000347.5,NM_001024858.2	,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,	750/2138,750/2329	65260131	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	6710				actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton	g.chr14:65260131G>A		CCDS32099.1, CCDS32100.1	14q24.1-q24.2	2013-01-10	2008-07-29			ENSG00000070182		"Pleckstrin homology (PH) domain containing"	11274	protein-coding gene	gene with protein product	"spherocytosis, clinical type I"	182870				2209094	Standard	NM_001024858		Approved		uc001xhr.3	P11277		ENST00000389721.5:c.2250C>T	14.37:g.65260131G>A						SPTB_ENST00000556626.1_Silent_p.G750G|SPTB_ENST00000389720.3_Silent_p.G750G|SPTB_ENST00000389721.5_Silent_p.G750G|SPTB_ENST00000542895.1_Silent_p.G750G	p.G750G	NM_001024858.2	NP_001020029.1	P11277	SPTB1_HUMAN		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)	13	2303	-		all_lung(585;4.15e-09)	750					Q15510|Q15519	Silent	SNP	ENST00000389721.5	37	c.2250C>T	CCDS32100.1																																																																																				0.602	SPTB-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000414080.1			5	28	0	0	0	1	0	5	28					A	65260131	G	A	65260131	2	1	286	1	0	0	0	0	0	0	0	1	15117	1074	38	1		1	SPTB	14	65260131	Silent	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	22509	65260131	42089409	458	13588											
ZFYVE26	23503	broad.mit.edu	37	chr14	68232984	68232984	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttggctctggccggctttgaCgaacatcatcttggcgctga	6	12	12	11	3	3	2	1	2	2	0	3	3	3	2	1	4	1	3	1	4	1	3			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr14:68232984C>T	ENST00000347230.4	-	32	6109	c.5971G>A	c.(5971-5973)Gtc>Atc	p.V1991I	ZFYVE26_ENST00000555452.1_Missense_Mutation_p.V1991I	NM_015346.3	NP_056161.2	Q68DK2	ZFY26_HUMAN	zinc finger, FYVE domain containing 26	1991					cell death (GO:0008219)|cytokinesis (GO:0000910)|double-strand break repair via homologous recombination (GO:0000724)	centrosome (GO:0005813)|lysosomal membrane (GO:0005765)|midbody (GO:0030496)	metal ion binding (GO:0046872)|phosphatidylinositol-3-phosphate binding (GO:0032266)			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	94				all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)		CCGGCTTTGACGAACATCATC	0.547																																						ENST00000347230.4																			0				NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	94						c.(5971-5973)Gtc>Atc		zinc finger, FYVE domain containing 26							68	70	69					14																	68232984		2203	4300	6503	SO:0001583	missense	23503				cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination	centrosome|midbody	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding	g.chr14:68232984C>T	AB002319	CCDS9788.1	14q23.3	2012-11-23				ENSG00000072121		"Zinc fingers, FYVE domain containing"	20761	protein-coding gene	gene with protein product	"spastizin", "FYVE-CENT"	612012	"spastic paraplegia 15 (complicated, autosomal recessive)"	SPG15		9205841, 18394578	Standard	NM_015346		Approved	KIAA0321	uc001xka.2	Q68DK2		ENST00000347230.4:c.5971G>A	14.37:g.68232984C>T	ENSP00000251119:p.Val1991Ile					ZFYVE26_ENST00000555452.1_Missense_Mutation_p.V1991I	p.V1991I	NM_015346.3	NP_056161.2	Q68DK2	ZFY26_HUMAN		all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)	32	6109	-			1991					B1B5Y3|B4E2U3|O15035|Q68DT9|Q6AW90|Q6ZR50|Q7Z3A4|Q7Z3I1|Q8N4W7	Missense_Mutation	SNP	ENST00000347230.4	37	c.5971G>A	CCDS9788.1	.	.	.	.	.	.	.	.	.	.	C	27.4	4.823664	0.90873	.	.	ENSG00000072121	ENST00000347230;ENST00000411699;ENST00000555452	T;T	0.29397	1.72;1.57	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	T	0.50222	0.1603	L	0.43152	1.355	0.49483	D	0.999793	D;D	0.89917	1.0;1.0	D;D	0.81914	0.995;0.988	T	0.32481	-0.9905	10	0.41790	T	0.15	-21.217	19.8574	0.96764	0.0:1.0:0.0:0.0	.	1991;1991	G3V2D8;Q68DK2	.;ZFY26_HUMAN	I	1991;1970;1991	ENSP00000251119:V1991I;ENSP00000450603:V1991I	ENSP00000251119:V1991I	V	-	1	0	ZFYVE26	67302737	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	5.876000	0.69667	2.704000	0.92352	0.555000	0.69702	GTC		0.547	ZFYVE26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412736.2	NM_015346		22	69	0	0	0	1	0	22	69					T	68232984	C	T	68232984	3	4	286	1	0	0	0	0	1	0	0	0	17665	536	19	1	1692	1	ZFYVE26	14	68232984	Missense_Mutation	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	2972853	68232984	39116556	459	13589											
SMOC1	64093	broad.mit.edu	37	chr14	70420167	70420167	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gagcaagtgtcgcctggagcGggctcaagccctggagcaag	9	5	16	11	2	1	0	1	0	0	0	2	3	1	2	2	3	4	3	2	3	3	0			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr14:70420167G>A	ENST00000381280.4	+	3	549	c.296G>A	c.(295-297)cGg>cAg	p.R99Q	SMOC1_ENST00000361956.3_Missense_Mutation_p.R99Q	NM_001034852.2|NM_022137.5	NP_001030024.1|NP_071420.1	Q9H4F8	SMOC1_HUMAN	SPARC related modular calcium binding 1	99	Thyroglobulin type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00500}.				cell differentiation (GO:0030154)|extracellular matrix organization (GO:0030198)|eye development (GO:0001654)|limb development (GO:0060173)|positive regulation of cell-substrate adhesion (GO:0010811)|regulation of osteoblast differentiation (GO:0045667)|signal transduction (GO:0007165)	basement membrane (GO:0005604)	calcium ion binding (GO:0005509)|extracellular matrix binding (GO:0050840)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	21				all cancers(60;0.00417)|BRCA - Breast invasive adenocarcinoma(234;0.0119)|OV - Ovarian serous cystadenocarcinoma(108;0.028)		CGCCTGGAGCGGGCTCAAGCC	0.562																																						ENST00000381280.4																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	21						c.(295-297)cGg>cAg		SPARC related modular calcium binding 1							123	118	120					14																	70420167		2203	4300	6503	SO:0001583	missense	64093				cell differentiation|eye development|limb development|regulation of osteoblast differentiation|signal transduction	basement membrane	calcium ion binding	g.chr14:70420167G>A	AJ249900	CCDS9798.1, CCDS32110.1	14q24.1	2010-08-05			ENSG00000198732	ENSG00000198732			20318	protein-coding gene	gene with protein product		608488				12130637	Standard	NM_001034852		Approved		uc001xlt.2	Q9H4F8		ENST00000381280.4:c.296G>A	14.37:g.70420167G>A	ENSP00000370680:p.Arg99Gln					SMOC1_ENST00000361956.3_Missense_Mutation_p.R99Q	p.R99Q	NM_001034852.2|NM_022137.5	NP_001030024.1|NP_071420.1	Q9H4F8	SMOC1_HUMAN		all cancers(60;0.00417)|BRCA - Breast invasive adenocarcinoma(234;0.0119)|OV - Ovarian serous cystadenocarcinoma(108;0.028)	3	549	+			99			Thyroglobulin type-1 1.		A8K1S3|B2R7P5|Q96F78	Missense_Mutation	SNP	ENST00000381280.4	37	c.296G>A	CCDS9798.1	.	.	.	.	.	.	.	.	.	.	G	29.0	4.968105	0.92855	.	.	ENSG00000198732	ENST00000361956;ENST00000381280	T;T	0.66638	-0.22;-0.22	5.62	5.62	0.85841	Thyroglobulin type-1 (3);	0.000000	0.85682	D	0.000000	T	0.82254	0.4997	M	0.76002	2.32	0.53688	D	0.999971	D;D	0.71674	0.995;0.998	D;D	0.79108	0.922;0.992	T	0.81504	-0.0903	10	0.45353	T	0.12	-19.4183	19.6522	0.95822	0.0:0.0:1.0:0.0	.	99;99	Q9H4F8-2;Q9H4F8	.;SMOC1_HUMAN	Q	99	ENSP00000355110:R99Q;ENSP00000370680:R99Q	ENSP00000355110:R99Q	R	+	2	0	SMOC1	69489920	1.000000	0.71417	1.000000	0.80357	0.548000	0.35241	9.286000	0.95898	2.634000	0.89283	0.591000	0.81541	CGG		0.562	SMOC1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000412467.1			30	99	0	0	0	1	0	30	99					A	70420167	G	A	70420167	3	1	286	1	0	0	0	0	1	0	0	0	14801	1116	39	2	306	2	SMOC1	14	70420167	Missense_Mutation	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	2187183	70420167	36929373	460	13590											
SLC8A3	6547	broad.mit.edu	37	chr14	70634985	70634985	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgacaccctccttgcagtccGatgaccctgaacaggactca	10	8	8	15	1	1	3	1	3	0	0	3	5	3	4	4	1	2	1	4	1	1	1	rs368848410		TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr14:70634985G>A	ENST00000381269.2	-	2	908	c.155C>T	c.(154-156)tCg>tTg	p.S52L	SLC8A3_ENST00000356921.2_Missense_Mutation_p.S52L|SLC8A3_ENST00000528359.1_Missense_Mutation_p.S52L|SLC8A3_ENST00000357887.3_Missense_Mutation_p.S52L|SLC8A3_ENST00000534137.1_Missense_Mutation_p.S52L	NM_058240.2|NM_183002.1	NP_489479.1|NP_892114.1	P57103	NAC3_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 3	52					blood coagulation (GO:0007596)|calcium ion export from cell (GO:1990034)|calcium ion import into cell (GO:1990035)|calcium ion transport into cytosol (GO:0060402)|cell communication (GO:0007154)|cellular response to cAMP (GO:0071320)|hematopoietic progenitor cell differentiation (GO:0002244)|ion transport (GO:0006811)|telencephalon development (GO:0021537)|transmembrane transport (GO:0055085)	dendritic spine (GO:0043197)|integral component of membrane (GO:0016021)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)	calcium:sodium antiporter activity (GO:0005432)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6)	54				BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)		CTTGCAGTCCGATGACCCTGA	0.547																																						ENST00000381269.2																			0				NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6)	54						c.(154-156)tCg>tTg		solute carrier family 8 (sodium/calcium exchanger), member 3		G	LEU/SER,LEU/SER,LEU/SER,LEU/SER	0,4406		0,0,2203	74	61	65		155,155,155,155	4.8	1	14		65	2,8598	2.2+/-6.3	0,2,4298	no	missense,missense,missense,missense	SLC8A3	NM_033262.3,NM_058240.2,NM_182932.1,NM_183002.1	145,145,145,145	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	benign,benign,benign,benign	52/926,52/925,52/922,52/928	70634985	2,13004	2203	4300	6503	SO:0001583	missense	6547				cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding	g.chr14:70634985G>A	AJ304852	CCDS9799.1, CCDS9800.1, CCDS35498.1, CCDS41967.1, CCDS45131.1, CCDS53904.1	14q24.1	2013-05-22	2008-09-02		ENSG00000100678	ENSG00000100678		"Solute carriers"	11070	protein-coding gene	gene with protein product		607991				8798769	Standard	XM_005268017		Approved	NCX3	uc001xly.3	P57103	OTTHUMG00000152342	ENST00000381269.2:c.155C>T	14.37:g.70634985G>A	ENSP00000370669:p.Ser52Leu					SLC8A3_ENST00000356921.2_Missense_Mutation_p.S52L|SLC8A3_ENST00000528359.1_Missense_Mutation_p.S52L|SLC8A3_ENST00000534137.1_Missense_Mutation_p.S52L|SLC8A3_ENST00000357887.3_Missense_Mutation_p.S52L	p.S52L	NM_058240.2|NM_183002.1	NP_489479.1|NP_892114.1	P57103	NAC3_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)	2	908	-			52					Q5K3P6|Q5K3P7|Q8IUE9|Q8IUF0|Q8NFI7|Q96QG1|Q96QG2	Missense_Mutation	SNP	ENST00000381269.2	37	c.155C>T	CCDS35498.1	.	.	.	.	.	.	.	.	.	.	G	6.301	0.423706	0.11928	0.0	2.33E-4	ENSG00000100678	ENST00000356921;ENST00000381269;ENST00000357887;ENST00000534137;ENST00000528359	T;T;T;T;T	0.35421	1.38;1.31;1.45;1.38;1.45	4.84	4.84	0.62591	.	0.243896	0.34435	N	0.003974	T	0.19685	0.0473	L	0.27053	0.805	0.37437	D	0.914251	B;B;B;B	0.32071	0.355;0.242;0.019;0.205	B;B;B;B	0.23716	0.048;0.013;0.004;0.009	T	0.13202	-1.0518	10	0.19147	T	0.46	.	7.1739	0.25734	0.0922:0.0:0.7355:0.1723	.	52;52;52;52	P57103-2;P57103;Q96QG2;Q96QG1	.;NAC3_HUMAN;.;.	L	52	ENSP00000349392:S52L;ENSP00000370669:S52L;ENSP00000350560:S52L;ENSP00000436688:S52L;ENSP00000433531:S52L	ENSP00000349392:S52L	S	-	2	0	SLC8A3	69704738	0.995000	0.38212	0.982000	0.44146	0.993000	0.82548	2.458000	0.45014	2.509000	0.84616	0.563000	0.77884	TCG		0.547	SLC8A3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390736.1			6	34	0	0	0	1	0	6	34					A	70634985	G	A	70634985	3	1	286	1	0	0	0	0	1	0	0	0	14708	1059	37	2	2767	2	SLC8A3	14	70634985	Missense_Mutation	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	214818	70634985	36714555	461	13591											
MAP3K9	4293	broad.mit.edu	37	chr14	71216681	71216681	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttggcaaaaggttctgggcaCgtagaaggaataggaagggc	13	7	16	5	1	1	1	0	0	1	1	1	3	1	3	0	6	0	4	0	6	7	4	rs138594750		TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr14:71216681C>T	ENST00000554752.2	-	4	1118	c.1119G>A	c.(1117-1119)acG>acA	p.T373T	MAP3K9_ENST00000381250.4_Silent_p.T373T|MAP3K9_ENST00000555993.2_Silent_p.T373T|MAP3K9_ENST00000553414.1_Silent_p.T67T|MAP3K9_ENST00000554146.1_Silent_p.T110T	NM_001284230.1	NP_001271159.1	P80192	M3K9_HUMAN	mitogen-activated protein kinase kinase kinase 9	373	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of JNKK activity (GO:0007256)|activation of JUN kinase activity (GO:0007257)|apoptotic process (GO:0006915)|positive regulation of apoptotic process (GO:0043065)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)		ATP binding (GO:0005524)|JUN kinase kinase kinase activity (GO:0004706)|MAP kinase kinase activity (GO:0004708)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(1)|skin(3)|stomach(2)	46				all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08)		GTTCTGGGCACGTAGAAGGAA	0.517																																					GBM(114;411 1587 13539 28235 50070)	ENST00000554752.2																			0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(1)|skin(3)|stomach(2)	46						c.(1117-1119)acG>acA		mitogen-activated protein kinase kinase kinase 9		T		5,4401	825.8+/-416.5	0,5,2198	157	135	143		1119	-11.8	0	14	dbSNP_134	143	15,8585	818.6+/-406.8	0,15,4285	no	coding-synonymous	MAP3K9	NM_033141.2		0,20,6483	TT,TC,CC		0.1744,0.1135,0.1538		373/1119	71216681	20,12986	2203	4300	6503	SO:0001819	synonymous_variant	4293				activation of JUN kinase activity|protein autophosphorylation		ATP binding|JUN kinase kinase kinase activity|MAP kinase kinase activity|protein homodimerization activity	g.chr14:71216681C>T	AF251442	CCDS32112.1, CCDS61485.1, CCDS61488.1, CCDS73650.1	14q24.2	2012-10-02			ENSG00000006432	ENSG00000006432		"Mitogen-activated protein kinase cascade / Kinase kinase kinases"	6861	protein-coding gene	gene with protein product		600136		MLK1			Standard	NM_001284231		Approved	PRKE1, MEKK9	uc001xml.3	P80192	OTTHUMG00000171249	ENST00000554752.2:c.1119G>A	14.37:g.71216681C>T						MAP3K9_ENST00000554146.1_Silent_p.T110T|MAP3K9_ENST00000555993.2_Silent_p.T373T|MAP3K9_ENST00000553414.1_Silent_p.T67T|MAP3K9_ENST00000381250.4_Silent_p.T373T	p.T373T			P80192	M3K9_HUMAN		all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08)	4	1118	-			373			Protein kinase.		A3KN85|Q0D2G7|Q6EH31|Q9H2N5	Silent	SNP	ENST00000554752.2	37	c.1119G>A																																																																																					0.517	MAP3K9-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000412550.2			11	50	0	0	0	1	0	11	50					T	71216681	C	T	71216681	2	4	286	1	0	0	0	0	0	0	0	1	9257	523	19	1		1	MAP3K9	14	71216681	Silent	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	581696	71216681	36132859	462	13592											
C14orf115	55237	broad.mit.edu	37	chr14	74824199	74824199	+	Frame_Shift_Del	DEL	C	C	-																															cttccgccaccagtactttgCccctgtggtggggctggaag																										TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr14:74824199delC	ENST00000256362.4	+	2	954	c.713delC	c.(712-714)gccfs	p.A238fs		NM_018228.2	NP_060698.2	Q9H8Y1	VRTN_HUMAN	vertebrae development associated	238					transposition, DNA-mediated (GO:0006313)		sequence-specific DNA binding (GO:0043565)|transposase activity (GO:0004803)			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(15)|ovary(5)|prostate(2)|skin(1)|urinary_tract(1)	41						CAGTACTTTGCCCCTGTGGTG	0.687																																						ENST00000256362.4																			0				NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(15)|ovary(5)|prostate(2)|skin(1)|urinary_tract(1)	41						c.(712-714)gcfs		vertebrae development associated							40	41	41					14																	74824199		2203	4299	6502	SO:0001589	frameshift_variant	55237				transposition, DNA-mediated		DNA binding|transposase activity	g.chr14:74824199delC	AK001673	CCDS9830.1	14q24.2	2012-12-07	2012-12-07	2010-10-20	ENSG00000133980	ENSG00000133980			20223	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 115", "vertebrae development homolog (pig)"	C14orf115		21232157	Standard	NM_018228		Approved	FLJ10811, vertnin	uc001xpw.4	Q9H8Y1	OTTHUMG00000171208	ENST00000256362.4:c.713delC	14.37:g.74824199delC	ENSP00000256362:p.Ala238fs						p.A238fs	NM_018228.2	NP_060698.2	Q9H8Y1	VRTN_HUMAN			2	954	+			238					Q9NVC7	Frame_Shift_Del	DEL	ENST00000256362.4	37	c.713delC	CCDS9830.1																																																																																				0.687	VRTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412339.1	NM_018228		10	71						10	71	---	---	---	---	-	74824199	C	-	74824199	7	5	286	1	0	1	0	1	0	0	0	0	1740	739	26	0	715	0	C14orf115	14	74824199	Frame_Shift_Del	DEL	C	TCGA-J9-A52C-01A-11D-A26M-08	3607518	74824199	32525341	463	13593											
TTLL5	23093	broad.mit.edu	37	chr14	76241900	76241900	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gaggatggtattacccagtcGacgattggcacttctggaac	10	10	12	9	2	1	0	0	0	1	0	2	5	1	2	1	4	2	2	1	4	3	4			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr14:76241900G>A	ENST00000298832.9	+	22	2415	c.2210G>A	c.(2209-2211)cGa>cAa	p.R737Q	TTLL5_ENST00000555422.1_3'UTR|TTLL5_ENST00000554510.1_Missense_Mutation_p.R246Q|TTLL5_ENST00000556893.1_Missense_Mutation_p.R288Q|TTLL5_ENST00000557636.1_Missense_Mutation_p.R751Q	NM_015072.4	NP_055887.3	Q6EMB2	TTLL5_HUMAN	tubulin tyrosine ligase-like family, member 5	737					fertilization (GO:0009566)|protein polyglutamylation (GO:0018095)|sperm axoneme assembly (GO:0007288)|sperm motility (GO:0030317)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)			NS(2)|breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(3)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(2)	50				BRCA - Breast invasive adenocarcinoma(234;0.029)		TTACCCAGTCGACGATTGGCA	0.448																																						ENST00000298832.9																			0				NS(2)|breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(3)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(2)	50						c.(2209-2211)cGa>cAa		tubulin tyrosine ligase-like family, member 5							155	145	148					14																	76241900		2203	4300	6503	SO:0001583	missense	23093				protein modification process|transcription, DNA-dependent	centrosome|cilium|microtubule basal body|nucleus	tubulin-tyrosine ligase activity	g.chr14:76241900G>A	AF107885	CCDS32124.1	14q24.3	2014-09-09	2005-07-29	2005-07-29	ENSG00000119685	ENSG00000119685		"Tubulin tyrosine ligase-like family"	19963	protein-coding gene	gene with protein product		612268	"KIAA0998"	KIAA0998		15890843	Standard	NM_015072		Approved		uc001xrx.3	Q6EMB2	OTTHUMG00000171611	ENST00000298832.9:c.2210G>A	14.37:g.76241900G>A	ENSP00000298832:p.Arg737Gln					TTLL5_ENST00000556893.1_Missense_Mutation_p.R288Q|TTLL5_ENST00000555422.1_3'UTR|TTLL5_ENST00000554510.1_Missense_Mutation_p.R246Q|TTLL5_ENST00000557636.1_Missense_Mutation_p.R751Q	p.R737Q	NM_015072.4	NP_055887.3	Q6EMB2	TTLL5_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.029)	22	2415	+			737					B9EGH8|B9EGH9|Q9BUB0|Q9H0G4|Q9H7W2|Q9P1V5|Q9UPZ4	Missense_Mutation	SNP	ENST00000298832.9	37	c.2210G>A	CCDS32124.1	.	.	.	.	.	.	.	.	.	.	G	26.4	4.737751	0.89573	.	.	ENSG00000119685	ENST00000418433;ENST00000557636;ENST00000298832;ENST00000393826;ENST00000556893;ENST00000554510	T;T;T;T	0.27720	3.81;3.89;1.66;1.65	5.47	5.47	0.80525	.	0.139441	0.50627	D	0.000111	T	0.52370	0.1730	L	0.53249	1.67	0.39850	D	0.973226	D;D;D	0.89917	1.0;0.997;1.0	D;D;D	0.85130	0.997;0.918;0.992	T	0.49214	-0.8963	10	0.48119	T	0.1	.	17.875	0.88822	0.0:0.0:1.0:0.0	.	751;288;737	G3V2J9;Q6EMB2-2;Q6EMB2	.;.;TTLL5_HUMAN	Q	424;751;737;288;288;246	ENSP00000450713:R751Q;ENSP00000298832:R737Q;ENSP00000452524:R288Q;ENSP00000451946:R246Q	ENSP00000298832:R737Q	R	+	2	0	TTLL5	75311653	1.000000	0.71417	0.994000	0.49952	0.965000	0.64279	3.912000	0.56386	2.723000	0.93209	0.655000	0.94253	CGA		0.448	TTLL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414453.1	NM_015072		14	66	0	0	0	1	0	14	66					A	76241900	G	A	76241900	3	1	286	1	0	0	0	0	1	0	0	0	16727	1058	37	2	2292	2	TTLL5	14	76241900	Missense_Mutation	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	1417701	76241900	31107640	464	13594											
TMED8	283578	broad.mit.edu	37	chr14	77808302	77808303	+	Frame_Shift_Del	DEL	CT	CT	-																															ccgcaaggagctcctggagcCtctctccacatctccagctg																										TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr14:77808302_77808303delCT	ENST00000216468.7	-	6	844_845	c.789_790delAG	c.(787-792)agaggcfs	p.G264fs		NM_213601.1	NP_998766.1	Q6PL24	TMED8_HUMAN	transmembrane emp24 protein transport domain containing 8	264	GOLD. {ECO:0000255|PROSITE- ProRule:PRU00096}.				transport (GO:0006810)	integral component of membrane (GO:0016021)		p.G264fs*30(1)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)	15			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0281)		CTCCTGGAGCCTCTCTCCACAT	0.609																																						ENST00000216468.7																			1	Deletion - Frameshift(1)	p.G264fs*30(1)	breast(1)	breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)	15						c.(787-792)aggcfs		transmembrane emp24 protein transport domain containing 8																																				SO:0001589	frameshift_variant	283578				transport	integral to membrane		g.chr14:77808302_77808303delCT	AK095650	CCDS32125.1	14q24.3	2005-08-26	2005-08-26	2005-01-07		ENSG00000100580			18633	protein-coding gene	gene with protein product			"family with sequence similarity 15, member B", "transmembrane emp24 domain containing 8"	FAM15B			Standard	NM_213601		Approved		uc001xto.1	Q6PL24		ENST00000216468.7:c.789_790delAG	14.37:g.77808306_77808307delCT	ENSP00000216468:p.Gly264fs						p.RG263fs	NM_213601.1	NP_998766.1	Q6PL24	TMED8_HUMAN	Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0281)	6	844_845	-			263			GOLD.		B3KTI6|Q3MJB0|Q9P1V9	Frame_Shift_Del	DEL	ENST00000216468.7	37	c.789_790delAG	CCDS32125.1																																																																																				0.609	TMED8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414100.1	NM_213601		8	27						8	27	---	---	---	---	-	77808303	CT	-	77808302	7	5	286	1	0	1	0	1	0	0	0	0	16008	681	24	0	190	0	TMED8	14	77808302	Frame_Shift_Del	DEL	CT	TCGA-J9-A52C-01A-11D-A26M-08	1566402	77808302	29541238	465	13595											
FLRT2	23768	broad.mit.edu	37	chr14	86089434	86089434	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaacaacggcagcaacacaGcgtccagccatgagcagacg	14	3	11	13	3	0	3	0	2	0	1	1	3	1	3	2	1	7	3	2	1	3	0	rs182653425	byFrequency	TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr14:86089434G>A	ENST00000330753.4	+	2	2343	c.1576G>A	c.(1576-1578)Gcg>Acg	p.A526T	FLRT2_ENST00000554746.1_Missense_Mutation_p.A526T	NM_013231.4	NP_037363.1	O43155	FLRT2_HUMAN	fibronectin leucine rich transmembrane protein 2	526					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|intracellular signal transduction (GO:0035556)|regulation of neuron migration (GO:2001222)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|proteinaceous extracellular matrix (GO:0005578)	chemorepellent activity (GO:0045499)|protein binding, bridging (GO:0030674)|receptor signaling protein activity (GO:0005057)			NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	73				BRCA - Breast invasive adenocarcinoma(234;0.0319)		CAGCAACACAGCGTCCAGCCA	0.572													G|||	2	0.000399361	0	0	5008	,	,		15324	0.002		0	False		,,,				2504	0					ENST00000330753.4																			0				NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	73						c.(1576-1578)Gcg>Acg		fibronectin leucine rich transmembrane protein 2							96	95	95					14																	86089434		2203	4300	6503	SO:0001583	missense	23768				cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity	g.chr14:86089434G>A	AF169676	CCDS9877.1	14q24-q32	2013-02-11				ENSG00000185070		"Fibronectin type III domain containing"	3761	protein-coding gene	gene with protein product		604807				10644439, 16872596	Standard	XM_005267490		Approved		uc001xvr.3	O43155		ENST00000330753.4:c.1576G>A	14.37:g.86089434G>A	ENSP00000332879:p.Ala526Thr					FLRT2_ENST00000554746.1_Missense_Mutation_p.A526T	p.A526T	NM_013231.4	NP_037363.1	O43155	FLRT2_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0319)	2	2343	+			526					A0AV84|B7ZLP3	Missense_Mutation	SNP	ENST00000330753.4	37	c.1576G>A	CCDS9877.1	2	9.157509157509158E-4	0	0.0	0	0.0	2	0.0034965034965034965	0	0.0	G	1.272	-0.612789	0.03690	.	.	ENSG00000185070	ENST00000330753;ENST00000554746;ENST00000535800	T;T	0.54071	0.59;0.59	6.17	6.17	0.99709	.	0.260149	0.39274	N	0.001408	T	0.29556	0.0737	N	0.05280	-0.08	0.33450	D	0.583521	B	0.20052	0.041	B	0.17098	0.017	T	0.19877	-1.0292	10	0.02654	T	1	-13.8009	16.0647	0.80863	0.0:0.2322:0.7678:0.0	.	526	O43155	FLRT2_HUMAN	T	526;526;179	ENSP00000332879:A526T;ENSP00000451050:A526T	ENSP00000332879:A526T	A	+	1	0	FLRT2	85159187	0.983000	0.35010	0.373000	0.26003	0.460000	0.32559	2.930000	0.48924	2.941000	0.99782	0.655000	0.94253	GCG		0.572	FLRT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413193.1			19	124	0	0	0	1	0	19	124					A	86089434	G	A	86089434	3	1	286	1	0	0	0	0	1	0	0	0	5939	971	34	3	1578	3	FLRT2	14	86089434	Missense_Mutation	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	8281132	86089434	21260106	466	13596											
C14orf102	55051	broad.mit.edu	37	chr14	90754822	90754822	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtggaatctcagcaggctcGtgtgcatcagtgtgatggct	7	12	14	8	1	2	1	2	1	1	0	4	2	2	2	0	3	2	4	0	3	1	0	rs200896137	byFrequency	TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr14:90754822G>A	ENST00000354366.3	-	11	3129	c.2897C>T	c.(2896-2898)aCg>aTg	p.T966M	NRDE2_ENST00000357904.3_Missense_Mutation_p.T735M	NM_017970.3	NP_060440.2	Q9H7Z3	NRDE2_HUMAN	NRDE-2, necessary for RNA interference, domain containing	966																	CAGCAGGCTCGTGTGCATCAG	0.537													G|||	2	0.000399361	0	0	5008	,	,		18407	0.002		0	False		,,,				2504	0					ENST00000354366.3																			0											c.(2896-2898)aCg>aTg		NRDE-2, necessary for RNA interference, domain containing							89	85	86					14																	90754822		2203	4300	6503	SO:0001583	missense	55051							g.chr14:90754822G>A	AK000870	CCDS9890.1	14q32.11	2012-12-14	2012-09-25	2012-09-25	ENSG00000119720	ENSG00000119720			20186	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 102"	C14orf102			Standard	NM_017970		Approved	FLJ14051	uc001xyi.2	Q9H7Z3	OTTHUMG00000171020	ENST00000354366.3:c.2897C>T	14.37:g.90754822G>A	ENSP00000346335:p.Thr966Met					NRDE2_ENST00000357904.3_Missense_Mutation_p.T735M	p.T966M	NM_017970.3	NP_060440.2					11	3129	-								B4DH71|Q4G0A7|Q9NWH6	Missense_Mutation	SNP	ENST00000354366.3	37	c.2897C>T	CCDS9890.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	11.07	1.530403	0.27387	.	.	ENSG00000119720	ENST00000354366;ENST00000357904	T;T	0.30714	1.52;1.52	4.85	4.85	0.62838	.	0.121470	0.56097	D	0.000031	T	0.36552	0.0971	M	0.67953	2.075	0.39660	D	0.970593	P;P	0.50369	0.934;0.934	B;B	0.42214	0.23;0.38	T	0.37314	-0.9711	10	0.37606	T	0.19	-19.8708	18.1546	0.89687	0.0:0.0:1.0:0.0	.	735;966	E9PBK4;Q9H7Z3	.;CN102_HUMAN	M	966;735	ENSP00000346335:T966M;ENSP00000350579:T735M	ENSP00000346335:T966M	T	-	2	0	C14orf102	89824575	1.000000	0.71417	0.943000	0.38184	0.082000	0.17680	5.783000	0.68982	2.525000	0.85131	0.655000	0.94253	ACG		0.537	NRDE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411264.1	NM_017970		8	51	0	0	0	1	0	8	51					A	90754822	G	A	90754822	3	1	286	1	0	0	0	0	1	0	0	0	1735	1145	40	1	613	1	C14orf102	14	90754822	Missense_Mutation	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	4665388	90754822	16594718	467	13597											
BTBD7	55727	broad.mit.edu	37	chr14	93708993	93708993	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cccgtcaggggaaagtggatAttctctcctagcttcttcct	7	13	9	12	1	3	0	1	0	2	0	6	2	5	2	3	3	1	1	3	3	3	5			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr14:93708993A>G	ENST00000334746.5	-	11	3332	c.3025T>C	c.(3025-3027)Tat>Cat	p.Y1009H	BTBD7_ENST00000554565.1_Missense_Mutation_p.Y658H|BTBD7_ENST00000393170.2_Missense_Mutation_p.Y583H	NM_001002860.2	NP_001002860.2	Q9P203	BTBD7_HUMAN	BTB (POZ) domain containing 7	1009					multicellular organismal development (GO:0007275)|regulation of branching involved in salivary gland morphogenesis (GO:0060693)	nucleus (GO:0005634)				breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(8)|upper_aerodigestive_tract(1)	35		all_cancers(154;0.08)		Epithelial(152;0.196)|COAD - Colon adenocarcinoma(157;0.212)|all cancers(159;0.223)		GAAAGTGGATATTCTCTCCTA	0.498																																						ENST00000334746.5																			0				breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(8)|upper_aerodigestive_tract(1)	35						c.(3025-3027)Tat>Cat		BTB (POZ) domain containing 7							152	143	146					14																	93708993		2203	4300	6503	SO:0001583	missense	55727							g.chr14:93708993A>G	AB040958	CCDS32146.1, CCDS32147.1, CCDS73684.1	14q32.13	2013-01-08			ENSG00000011114	ENSG00000011114		"BTB/POZ domain containing"	18269	protein-coding gene	gene with protein product		610386				10819331, 11527404	Standard	NM_001289133		Approved	FLJ10648, FUP1	uc001ybo.3	Q9P203	OTTHUMG00000171269	ENST00000334746.5:c.3025T>C	14.37:g.93708993A>G	ENSP00000335615:p.Tyr1009His					BTBD7_ENST00000554565.1_Missense_Mutation_p.Y658H|BTBD7_ENST00000393170.2_Missense_Mutation_p.Y583H	p.Y1009H	NM_001002860.2	NP_001002860.2	Q9P203	BTBD7_HUMAN		Epithelial(152;0.196)|COAD - Colon adenocarcinoma(157;0.212)|all cancers(159;0.223)	11	3332	-		all_cancers(154;0.08)	1009					A8K5V7|Q69Z05|Q7Z308|Q86TS0|Q9HAA4|Q9NVM0	Missense_Mutation	SNP	ENST00000334746.5	37	c.3025T>C	CCDS32146.1	.	.	.	.	.	.	.	.	.	.	A	13.90	2.373827	0.42105	.	.	ENSG00000011114	ENST00000334746;ENST00000554565;ENST00000553975;ENST00000393170	T;T	0.51574	1.03;0.7	6.05	0.958	0.19619	.	0.254343	0.34507	N	0.003909	T	0.29749	0.0743	N	0.19112	0.55	0.09310	N	1	B;B;B	0.22480	0.003;0.001;0.07	B;B;B	0.28011	0.011;0.002;0.085	T	0.20538	-1.0272	10	0.56958	D	0.05	.	6.5823	0.22602	0.6939:0.1186:0.1875:0.0	.	583;658;1009	E7ERI4;Q9P203-5;Q9P203	.;.;BTBD7_HUMAN	H	1009;658;624;583	ENSP00000335615:Y1009H;ENSP00000451010:Y658H	ENSP00000335615:Y1009H	Y	-	1	0	BTBD7	92778746	0.040000	0.19996	0.000000	0.03702	0.994000	0.84299	0.941000	0.29005	-0.064000	0.13043	0.533000	0.62120	TAT		0.498	BTBD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412701.1	NM_001002860		19	92	0	0	0	1	0	19	92					G	93708993	A	G	93708993	3	3	286	1	0	0	0	0	1	0	0	0	1546	449	16	4	377	4	BTBD7	14	93708993	Missense_Mutation	SNP	A	TCGA-J9-A52C-01A-11D-A26M-08	2954171	93708993	13640547	468	13598											
SERPINA4	5267	broad.mit.edu	37	chr14	95034589	95034589	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tccaagtgggctgacttatcCggcatcaccaaacagcaaaa	14	7	8	12	1	1	1	1	1	0	0	3	1	3	1	3	2	2	3	3	2	5	1			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr14:95034589C>T	ENST00000557004.1	+	4	1468	c.1047C>T	c.(1045-1047)tcC>tcT	p.S349S	SERPINA4_ENST00000298841.5_Silent_p.S349S|SERPINA4_ENST00000555095.1_Silent_p.S349S|SERPINA5_ENST00000553780.1_Intron			P29622	KAIN_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 4	349					negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(28)|ovary(3)|skin(1)|urinary_tract(1)	46				COAD - Colon adenocarcinoma(157;0.211)		CTGACTTATCCGGCATCACCA	0.507																																						ENST00000557004.1																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(28)|ovary(3)|skin(1)|urinary_tract(1)	46						c.(1045-1047)tcC>tcT		serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 4							81	78	79					14																	95034589		2203	4300	6503	SO:0001819	synonymous_variant	5267				regulation of proteolysis	extracellular space	serine-type endopeptidase inhibitor activity	g.chr14:95034589C>T	L19684	CCDS9927.1	14q32.13	2014-02-18	2005-08-18		ENSG00000100665	ENSG00000100665		"Serine (or cysteine) peptidase inhibitors"	8948	protein-coding gene	gene with protein product		147935	"serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 4"	PI4		8227002, 24172014	Standard	NM_001289032		Approved	KST, KAL, KLST, kallistatin	uc001ydk.3	P29622	OTTHUMG00000170859	ENST00000557004.1:c.1047C>T	14.37:g.95034589C>T						SERPINA4_ENST00000555095.1_Silent_p.S349S|SERPINA4_ENST00000298841.5_Silent_p.S349S|SERPINA5_ENST00000553780.1_Intron	p.S349S			P29622	KAIN_HUMAN		COAD - Colon adenocarcinoma(157;0.211)	4	1468	+			349					Q53XB5|Q86TR9|Q96BZ5	Silent	SNP	ENST00000557004.1	37	c.1047C>T	CCDS9927.1																																																																																				0.507	SERPINA4-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410718.1	NM_006215		4	31	0	0	0	1	0	4	31					T	95034589	C	T	95034589	2	4	286	1	0	0	0	0	0	0	0	1	14091	639	23	2		2	SERPINA4	14	95034589	Silent	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	1325596	95034589	12314951	469	13599											
HHIPL1	84439	broad.mit.edu	37	chr14	100123403	100123403	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagctgcttttcggggatgaCgggtacctctacatcttcac	7	12	10	12	2	3	1	1	1	2	0	4	2	3	2	1	3	4	3	1	3	2	5	rs140994822	byFrequency	TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr14:100123403C>T	ENST00000330710.5	+	3	1067	c.969C>T	c.(967-969)gaC>gaT	p.D323D	HHIPL1_ENST00000357223.2_Silent_p.D323D	NM_001127258.1	NP_001120730.1	Q96JK4	HIPL1_HUMAN	HHIP-like 1	323					carbohydrate metabolic process (GO:0005975)	extracellular region (GO:0005576)|membrane (GO:0016020)	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor (GO:0016901)|quinone binding (GO:0048038)|scavenger receptor activity (GO:0005044)			breast(1)|endometrium(2)|large_intestine(2)|lung(8)|skin(2)	15		Melanoma(154;0.128)				TCGGGGATGACGGGTACCTCT	0.512													C|||	2	0.000399361	0.0015	0	5008	,	,		16278	0		0	False		,,,				2504	0					ENST00000330710.5																			0				breast(1)|endometrium(2)|large_intestine(2)|lung(8)|skin(2)	15						c.(967-969)gaC>gaT		HHIP-like 1		C	,	6,4400		0,6,2197	242	242	242		969,969	-6.3	0.8	14	dbSNP_134	242	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	HHIPL1	NM_001127258.1,NM_032425.4	,	0,6,6497	TT,TC,CC		0.0,0.1362,0.0461	,	323/783,323/609	100123403	6,13000	2203	4300	6503	SO:0001819	synonymous_variant	84439				carbohydrate metabolic process	extracellular region|membrane	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding|scavenger receptor activity	g.chr14:100123403C>T	AB058725	CCDS9953.1, CCDS45162.1	14q32	2008-01-16	2008-01-16	2008-01-16		ENSG00000182218			19710	protein-coding gene	gene with protein product			"KIAA1822"	KIAA1822			Standard	NM_032425		Approved		uc010avs.3	Q96JK4		ENST00000330710.5:c.969C>T	14.37:g.100123403C>T						HHIPL1_ENST00000357223.2_Silent_p.D323D	p.D323D	NM_001127258.1	NP_001120730.1	Q96JK4	HIPL1_HUMAN			3	1067	+		Melanoma(154;0.128)	323					A2RUF8|B2RN09|Q6UXX2	Silent	SNP	ENST00000330710.5	37	c.969C>T	CCDS45162.1																																																																																				0.512	HHIPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413811.1	XM_041566		56	315	0	0	0	1	0	56	315					T	100123403	C	T	100123403	2	4	286	1	0	0	0	0	0	0	0	1	7093	535	19	1		1	HHIPL1	14	100123403	Silent	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	5088814	100123403	7226137	470	13600											
ASPG	374569	broad.mit.edu	37	chr14	104571684	104571684	+	Frame_Shift_Del	DEL	G	G	-																															gctgctgaccaaggaccttcGgggggagatgacgccaccct																										TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr14:104571684delG	ENST00000551177.1	+	10	1162	c.1070delG	c.(1069-1071)cggfs	p.R357fs	ASPG_ENST00000546892.2_Frame_Shift_Del_p.R357fs|ASPG_ENST00000549809.1_3'UTR|ASPG_ENST00000455920.2_Frame_Shift_Del_p.R357fs	NM_001080464.2	NP_001073933.2	Q86U10	LPP60_HUMAN	asparaginase	357					asparagine metabolic process (GO:0006528)|lipid catabolic process (GO:0016042)|phospholipid metabolic process (GO:0006644)		1-alkyl-2-acetylglycerophosphocholine esterase activity (GO:0003847)|asparaginase activity (GO:0004067)|lysophospholipase activity (GO:0004622)	p.E387fs*2(1)|p.E359fs*2(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	11						AAGGACCTTCGGGGGGAGATG	0.682																																						ENST00000551177.1																			2	Deletion - Frameshift(2)	p.E387fs*2(1)|p.E359fs*2(1)	large_intestine(2)	endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	11						c.(1069-1071)cgfs		asparaginase homolog (S. cerevisiae)							36	42	40					14																	104571684		2113	4232	6345	SO:0001589	frameshift_variant	374569				lipid catabolic process		1-alkyl-2-acetylglycerophosphocholine esterase activity|asparaginase activity|lysophospholipase activity	g.chr14:104571684delG		CCDS45170.1, CCDS45170.2	14q32.33	2014-03-14	2014-03-14	2008-11-06	ENSG00000166183	ENSG00000166183	3.1.1.5, 3.5.1.1	"Ankyrin repeat domain containing"	20123	protein-coding gene	gene with protein product	"60-kDa-lysophospholipase"		"chromosome 14 open reading frame 76", "asparaginase homolog (S. cerevisiae)"	C14orf76			Standard	NM_001080464		Approved		uc001yoq.2	Q86U10		ENST00000551177.1:c.1070delG	14.37:g.104571684delG	ENSP00000450040:p.Arg357fs					ASPG_ENST00000549809.1_3'UTR|ASPG_ENST00000455920.2_Frame_Shift_Del_p.R357fs|ASPG_ENST00000546892.2_Frame_Shift_Del_p.R357fs	p.R357fs	NM_001080464.2	NP_001073933.2	Q86U10	LPP60_HUMAN			10	1162	+			357					B9EGQ2|Q8IV80	Frame_Shift_Del	DEL	ENST00000551177.1	37	c.1070delG	CCDS45170.2																																																																																				0.682	ASPG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407005.1	NM_001080464		13	56						13	56	---	---	---	---	-	104571684	G	-	104571684	7	5	286	1	0	1	0	1	0	0	0	0	1052	1116	39	0	1108	0	ASPG	14	104571684	Frame_Shift_Del	DEL	G	TCGA-J9-A52C-01A-11D-A26M-08	4448281	104571684	2777856	471	13601											
NUDT14	256281	broad.mit.edu	37	chr14	105639420	105639420	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgagacaccaaagatgacgcCgagggtcttggggatgtccg	10	7	15	9	3	1	3	0	2	1	2	2	6	2	4	3	3	0	0	3	3	1	1			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr14:105639420C>T	ENST00000392568.2	-	5	700	c.607G>A	c.(607-609)Ggc>Agc	p.G203S	RP11-44N21.4_ENST00000548203.1_RNA|NUDT14_ENST00000550912.1_5'UTR	NM_177533.4	NP_803877.2	O95848	NUD14_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 14	203	Nudix hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00794}.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	ADP-ribose diphosphatase activity (GO:0047631)|metal ion binding (GO:0046872)|UDP-sugar diphosphatase activity (GO:0008768)			cervix(2)|endometrium(1)|lung(3)|ovary(1)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	14		all_cancers(154;0.0336)|all_epithelial(191;0.0729)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00989)|all cancers(16;0.0114)|Epithelial(46;0.0272)	Epithelial(152;0.047)|OV - Ovarian serous cystadenocarcinoma(161;0.148)|all cancers(159;0.208)		AAGATGACGCCGAGGGTCTTG	0.627										HNSCC(42;0.11)																												ENST00000392568.2																			0				cervix(2)|endometrium(1)|lung(3)|ovary(1)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	14						c.(607-609)Ggc>Agc		nudix (nucleoside diphosphate linked moiety X)-type motif 14							78	79	79					14																	105639420		2202	4293	6495	SO:0001583	missense	256281					cytoplasm	metal ion binding|protein binding|UDP-sugar diphosphatase activity	g.chr14:105639420C>T	AB087802	CCDS10000.1	14q32.33	2013-02-15			ENSG00000183828	ENSG00000183828		"Nudix motif containing"	20141	protein-coding gene	gene with protein product		609219				12429023	Standard	NM_177533		Approved	UGPP	uc010tyn.3	O95848	OTTHUMG00000170372	ENST00000392568.2:c.607G>A	14.37:g.105639420C>T	ENSP00000376349:p.Gly203Ser	HNSCC(42;0.11)				RP11-44N21.4_ENST00000548203.1_RNA|NUDT14_ENST00000550912.1_5'UTR	p.G203S	NM_177533.4	NP_803877.2	O95848	NUD14_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.00989)|all cancers(16;0.0114)|Epithelial(46;0.0272)	Epithelial(152;0.047)|OV - Ovarian serous cystadenocarcinoma(161;0.148)|all cancers(159;0.208)	5	700	-		all_cancers(154;0.0336)|all_epithelial(191;0.0729)|Melanoma(154;0.155)	203			Nudix hydrolase.		Q86SJ8	Missense_Mutation	SNP	ENST00000392568.2	37	c.607G>A	CCDS10000.1	.	.	.	.	.	.	.	.	.	.	C	4.989	0.183758	0.09495	.	.	ENSG00000183828	ENST00000392568	T	0.39787	1.06	3.32	2.42	0.29668	NUDIX hydrolase domain (2);NUDIX hydrolase domain-like (1);	0.000000	0.85682	D	0.000000	T	0.28466	0.0704	L	0.41236	1.265	0.58432	D	0.999999	D	0.55172	0.97	P	0.44447	0.45	T	0.15093	-1.0449	10	0.09084	T	0.74	-14.3747	6.3717	0.21485	0.0:0.8646:0.0:0.1354	.	203	O95848	NUD14_HUMAN	S	203	ENSP00000376349:G203S	ENSP00000376349:G203S	G	-	1	0	NUDT14	104710465	0.226000	0.23696	0.023000	0.16930	0.179000	0.23085	1.183000	0.32041	0.972000	0.38314	0.462000	0.41574	GGC		0.627	NUDT14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000074544.4	NM_177533		5	54	0	0	0	1	0	5	54					T	105639420	C	T	105639420	3	4	286	1	0	0	0	0	1	0	0	0	10730	652	23	2	65	2	NUDT14	14	105639420	Missense_Mutation	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	1067736	105639420	1710120	472	13602											
OR4N4	283694	broad.mit.edu	37	chr15	22382965	22382965	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tccaggtggtcctcatcctcCgcttgcctttttgtggccca	3	14	9	15	1	1	0	1	0	0	0	5	0	5	0	6	3	1	1	6	3	0	3			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr15:22382965C>T	ENST00000328795.4	+	1	584	c.493C>T	c.(493-495)Cgc>Tgc	p.R165C	RP11-69H14.6_ENST00000558896.1_RNA	NM_001005241.2	NP_001005241.2	Q8N0Y3	OR4N4_HUMAN	olfactory receptor, family 4, subfamily N, member 4	165						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R165S(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(19)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	40		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		CCTCATCCTCCGCTTGCCTTT	0.517																																						ENST00000328795.4																			1	Substitution - Missense(1)	p.R165S(1)	lung(1)	breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(19)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	40						c.(493-495)Cgc>Tgc		olfactory receptor, family 4, subfamily N, member 4							88	74	79					15																	22382965		2185	4255	6440	SO:0001583	missense	283694				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr15:22382965C>T	AI018459	CCDS32173.1	15q11.2	2012-08-09				ENSG00000183706		"GPCR / Class A : Olfactory receptors"	15375	protein-coding gene	gene with protein product							Standard	NM_001005241		Approved		uc010tzv.2	Q8N0Y3		ENST00000328795.4:c.493C>T	15.37:g.22382965C>T	ENSP00000332500:p.Arg165Cys					RP11-69H14.6_ENST00000558896.1_RNA	p.R165C	NM_001005241.2	NP_001005241.2	Q8N0Y3	OR4N4_HUMAN	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)	1	584	+		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	165					Q6IEY3|Q6IF56	Missense_Mutation	SNP	ENST00000328795.4	37	c.493C>T	CCDS32173.1	.	.	.	.	.	.	.	.	.	.	.	2.509	-0.313508	0.05422	.	.	ENSG00000183706	ENST00000328795	T	0.00188	8.59	3.37	2.4	0.29515	GPCR, rhodopsin-like superfamily (1);	0.132210	0.35151	N	0.003417	T	0.00178	0.0005	L	0.46157	1.445	0.09310	N	1	B	0.22800	0.075	B	0.24269	0.052	T	0.31861	-0.9928	10	0.54805	T	0.06	-0.1645	8.0468	0.30553	0.4391:0.5609:0.0:0.0	.	165	Q8N0Y3	OR4N4_HUMAN	C	165	ENSP00000332500:R165C	ENSP00000332500:R165C	R	+	1	0	OR4N4	19884329	0.000000	0.05858	0.956000	0.39512	0.268000	0.26511	-1.328000	0.02680	0.689000	0.31550	0.404000	0.27445	CGC		0.517	OR4N4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414922.1			15	66	0	0	0	1	0	15	66					T	22382965	C	T	22382965	3	4	286	1	0	0	0	0	1	0	0	0	11078	652	23	2	495	2	OR4N4	15	22382965	Missense_Mutation	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08		22382965	80148427	473	13603											
RYR3	6263	broad.mit.edu	37	chr15	34150103	34150103	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagcccgatatgaagtgcgaCgacatgatgacggtgagagc	12	6	15	8	4	0	4	0	4	0	1	0	9	0	4	1	1	3	0	1	1	2	1	rs369078948		TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr15:34150103C>T	ENST00000389232.4	+	99	14200	c.14130C>T	c.(14128-14130)gaC>gaT	p.D4710D	RP11-3D4.2_ENST00000560268.1_RNA|RP11-3D4.3_ENST00000560404.1_RNA|RYR3_ENST00000415757.3_Silent_p.D4705D	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	4710					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		TGAAGTGCGACGACATGATGA	0.597																																						ENST00000389232.4																			0				NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311						c.(14128-14130)gaC>gaT		ryanodine receptor 3		C		1,4337		0,1,2168	73	73	73		14130	-9.5	0.4	15		73	0,8564		0,0,4282	no	coding-synonymous	RYR3	NM_001036.3		0,1,6450	TT,TC,CC		0.0,0.0231,0.0078		4710/4871	34150103	1,12901	2169	4282	6451	SO:0001819	synonymous_variant	6263				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr15:34150103C>T		CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"Ion channels / Ryanodine receptors", "EF-hand domain containing"	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.14130C>T	15.37:g.34150103C>T						RYR3_ENST00000415757.3_Silent_p.D4705D	p.D4710D	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)	99	14200	+		all_lung(180;7.18e-09)	4710					O15175|Q15412	Silent	SNP	ENST00000389232.4	37	c.14130C>T	CCDS45210.1																																																																																				0.597	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1			6	32	0	0	0	1	0	6	32					T	34150103	C	T	34150103	2	4	286	1	0	0	0	0	0	0	0	1	13770	535	19	1		1	RYR3	15	34150103	Silent	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	11767138	34150103	68381289	474	13604											
PGBD4	161779	broad.mit.edu	37	chr15	34396266	34396266	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttcgaggtcgtccttgctccGatgatgtcacacctcttcgt	5	14	9	13	4	2	1	1	1	1	0	7	3	4	1	3	1	1	1	3	1	0	3			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr15:34396266G>A	ENST00000397766.2	+	1	1993	c.1534G>A	c.(1534-1536)Gat>Aat	p.D512N	EMC7_ENST00000532113.1_5'Flank|EMC7_ENST00000256545.4_5'Flank	NM_152595.4	NP_689808.2	Q96DM1	PGBD4_HUMAN	piggyBac transposable element derived 4	512										breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|pancreas(1)|prostate(1)	16		all_lung(180;1.76e-08)		all cancers(64;1.22e-17)|GBM - Glioblastoma multiforme(113;1.78e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0242)		TCCTTGCTCCGATGATGTCAC	0.488																																						ENST00000397766.2																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|pancreas(1)|prostate(1)	16						c.(1534-1536)Gat>Aat		piggyBac transposable element derived 4							74	62	66					15																	34396266		2201	4298	6499	SO:0001583	missense	161779							g.chr15:34396266G>A	AK057200	CCDS10033.1	15q13.1	2002-10-25			ENSG00000182405	ENSG00000182405			19401	protein-coding gene	gene with protein product							Standard	NM_152595		Approved	FLJ32638, FLJ37497	uc001zho.3	Q96DM1	OTTHUMG00000129370	ENST00000397766.2:c.1534G>A	15.37:g.34396266G>A	ENSP00000380872:p.Asp512Asn						p.D512N	NM_152595.4	NP_689808.2	Q96DM1	PGBD4_HUMAN		all cancers(64;1.22e-17)|GBM - Glioblastoma multiforme(113;1.78e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0242)	1	1993	+		all_lung(180;1.76e-08)	512					A1L487|A8K0C6|Q8N9E8	Missense_Mutation	SNP	ENST00000397766.2	37	c.1534G>A	CCDS10033.1	.	.	.	.	.	.	.	.	.	.	g	14.91	2.677648	0.47886	.	.	ENSG00000182405	ENST00000397766	T	0.16897	2.31	1.02	1.02	0.19986	.	0.584031	0.12934	U	0.427100	T	0.08268	0.0206	N	0.19112	0.55	0.20873	N	0.999839	B	0.30634	0.288	B	0.17979	0.02	T	0.33523	-0.9865	10	0.19590	T	0.45	.	7.8782	0.29605	0.0:0.0:1.0:0.0	.	512	Q96DM1	PGBD4_HUMAN	N	512	ENSP00000380872:D512N	ENSP00000380872:D512N	D	+	1	0	PGBD4	32183558	0.966000	0.33281	0.143000	0.22291	0.438000	0.31896	0.096000	0.15147	0.859000	0.35456	0.306000	0.20318	GAT		0.488	PGBD4-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000251522.1			4	29	0	0	0	1	0	4	29					A	34396266	G	A	34396266	3	1	286	1	0	0	0	0	1	0	0	0	11783	1058	37	2	1536	2	PGBD4	15	34396266	Missense_Mutation	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	246163	34396266	68135126	475	13605											
RPAP1	26015	broad.mit.edu	37	chr15	41813295	41813295	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggaccctgctgcttcctaacGacagctggtcagagaagtcg	9	8	12	12	2	1	1	1	0	0	1	3	4	2	2	2	2	4	3	2	2	2	2			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr15:41813295G>A	ENST00000304330.4	-	22	3205	c.3089C>T	c.(3088-3090)tCg>tTg	p.S1030L	RPAP1_ENST00000561603.1_Intron	NM_015540.2	NP_056355.2	Q9BWH6	RPAP1_HUMAN	RNA polymerase II associated protein 1	1030	Leu-rich.					nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)			NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(16)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	45		all_cancers(109;6.59e-20)|all_epithelial(112;7.67e-17)|Lung NSC(122;5.34e-11)|all_lung(180;4.17e-10)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		OV - Ovarian serous cystadenocarcinoma(18;2.84e-17)|GBM - Glioblastoma multiforme(113;1.68e-06)|Colorectal(105;0.0163)|BRCA - Breast invasive adenocarcinoma(123;0.117)		GCTTCCTAACGACAGCTGGTC	0.587																																						ENST00000304330.4																			0				NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(16)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	45						c.(3088-3090)tCg>tTg		RNA polymerase II associated protein 1							45	49	48					15																	41813295		2203	4298	6501	SO:0001583	missense	26015					nucleus	DNA binding|DNA-directed RNA polymerase activity	g.chr15:41813295G>A	BC000246	CCDS10079.1	15q14	2004-03-16			ENSG00000103932	ENSG00000103932			24567	protein-coding gene	gene with protein product		611475				10718198	Standard	XM_005254297		Approved	DKFZP727M111, KIAA1403, MGC858, FLJ12732	uc001zod.3	Q9BWH6	OTTHUMG00000130342	ENST00000304330.4:c.3089C>T	15.37:g.41813295G>A	ENSP00000306123:p.Ser1030Leu					RPAP1_ENST00000561603.1_Intron	p.S1030L	NM_015540.2	NP_056355.2	Q9BWH6	RPAP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;2.84e-17)|GBM - Glioblastoma multiforme(113;1.68e-06)|Colorectal(105;0.0163)|BRCA - Breast invasive adenocarcinoma(123;0.117)	22	3205	-		all_cancers(109;6.59e-20)|all_epithelial(112;7.67e-17)|Lung NSC(122;5.34e-11)|all_lung(180;4.17e-10)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)	1030			Leu-rich.		Q9H9I2|Q9NSQ5|Q9P2E4|Q9UFS7	Missense_Mutation	SNP	ENST00000304330.4	37	c.3089C>T	CCDS10079.1	.	.	.	.	.	.	.	.	.	.	G	9.105	1.005112	0.19199	.	.	ENSG00000103932	ENST00000304330	T	0.74632	-0.86	4.79	2.76	0.32466	.	0.460537	0.23815	N	0.044293	T	0.60586	0.2280	L	0.44542	1.39	0.09310	N	1	B	0.31837	0.342	B	0.17098	0.017	T	0.58358	-0.7650	10	0.87932	D	0	-14.0921	8.2023	0.31432	0.0:0.1441:0.6572:0.1987	.	1030	Q9BWH6	RPAP1_HUMAN	L	1030	ENSP00000306123:S1030L	ENSP00000306123:S1030L	S	-	2	0	RPAP1	39600587	1.000000	0.71417	0.688000	0.30117	0.447000	0.32167	3.229000	0.51278	1.218000	0.43458	0.557000	0.71058	TCG		0.587	RPAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252694.2	NM_015540		11	67	0	0	0	1	0	11	67					A	41813295	G	A	41813295	3	1	286	1	0	0	0	0	1	0	0	0	13541	1059	37	2	1108	2	RPAP1	15	41813295	Missense_Mutation	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	7417029	41813295	60718097	476	13606											
JMJD7-PLA2G4B	100137049	broad.mit.edu	37	chr15	42132808	42132808	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gcacggtcaagaacagcagtAgccctgtctggaaccagagc	12	5	12	12	1	2	2	1	0	1	2	2	3	2	3	2	2	5	3	2	2	4	1			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr15:42132808A>G	ENST00000452633.1	+	4	521	c.169A>G	c.(169-171)Agc>Ggc	p.S57G	PLA2G4B_ENST00000542534.2_Missense_Mutation_p.S288G|JMJD7-PLA2G4B_ENST00000382448.4_Missense_Mutation_p.S288G|PLA2G4B_ENST00000458483.1_Missense_Mutation_p.S57G|JMJD7-PLA2G4B_ENST00000342159.4_Missense_Mutation_p.S288G			P0C869	PA24B_HUMAN	phospholipase A2, group IVB (cytosolic)	57	C2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|arachidonic acid metabolic process (GO:0019369)|calcium-mediated signaling (GO:0019722)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|glycerophospholipid biosynthetic process (GO:0046474)|glycerophospholipid catabolic process (GO:0046475)|inflammatory response (GO:0006954)|parturition (GO:0007567)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|endosome (GO:0005768)|extracellular region (GO:0005576)|mitochondrial inner membrane (GO:0005743)	calcium ion binding (GO:0005509)|calcium-dependent phospholipase A2 activity (GO:0047498)|calcium-dependent phospholipid binding (GO:0005544)|lysophospholipase activity (GO:0004622)						all_cancers(109;1.84e-13)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)		all cancers(2;1.08e-30)|Epithelial(2;1.43e-22)|OV - Ovarian serous cystadenocarcinoma(18;1.13e-17)|GBM - Glioblastoma multiforme(94;9.77e-07)|Colorectal(2;0.0129)|COAD - Colon adenocarcinoma(120;0.0371)		GAACAGCAGTAGCCCTGTCTG	0.617																																						ENST00000382448.4																			0				endometrium(3)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(3)|skin(1)|soft_tissue(1)|urinary_tract(2)	25						c.(862-864)Agc>Ggc									76	78	77					15																	42132808		2203	4300	6503	SO:0001583	missense	0				arachidonic acid metabolic process|calcium-mediated signaling|glycerophospholipid catabolic process|inflammatory response|parturition	cytosol|early endosome membrane|extracellular region|mitochondrial membrane	calcium ion binding|calcium-dependent phospholipase A2 activity|calcium-dependent phospholipid binding|lysophospholipase activity	g.chr15:42132808A>G	AF065215	CCDS45241.1	15q11.2-q21.3	2010-08-17			ENSG00000243708	ENSG00000243708	3.1.1.4		9036	protein-coding gene	gene with protein product		606088				9705332	Standard	NM_001114633		Approved	cPLA2-beta, HsT16992		P0C869	OTTHUMG00000156809	ENST00000452633.1:c.169A>G	15.37:g.42132808A>G	ENSP00000396045:p.Ser57Gly					JMJD7-PLA2G4B_ENST00000342159.4_Missense_Mutation_p.S288G|JMJD7-PLA2G4B_ENST00000458483.1_Missense_Mutation_p.S57G|PLA2G4B_ENST00000452633.1_Missense_Mutation_p.S57G	p.S288G	NM_005090.3	NP_005081.1	P0C869	PA24B_HUMAN			8	871	+			57			PLA2c.		B4DRT9|O95712|Q19KD5|Q19KD6|Q59GF9|Q8TB10|Q9UKV7	Missense_Mutation	SNP	ENST00000452633.1	37	c.862A>G	CCDS45241.1	.	.	.	.	.	.	.	.	.	.	.	16.20	3.054601	0.55218	.	.	ENSG00000168970;ENSG00000168970;ENSG00000168970;ENSG00000243708	ENST00000382448;ENST00000342159;ENST00000458483;ENST00000452633	T;T;T;T	0.70164	-0.46;-0.46;-0.46;-0.46	5.04	3.92	0.45320	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.428514	0.25575	N	0.029723	T	0.61350	0.2340	M	0.62723	1.935	0.22771	N	0.99875	B;B;B	0.27068	0.12;0.015;0.167	B;B;B	0.31016	0.123;0.023;0.054	T	0.59166	-0.7505	10	0.72032	D	0.01	-1.8224	6.4561	0.21930	0.8147:0.0:0.1852:0.0	.	57;288;288	P0C869;P0C869-7;P0C869-6	PA24B_HUMAN;.;.	G	288;288;57;57	ENSP00000371886:S288G;ENSP00000342785:S288G;ENSP00000416610:S57G;ENSP00000396045:S57G	ENSP00000342785:S288G	S	+	1	0	JMJD7-PLA2G4B;PLA2G4B	39920100	0.108000	0.22018	0.987000	0.45799	0.949000	0.60115	1.512000	0.35812	1.069000	0.40788	0.533000	0.62120	AGC		0.617	PLA2G4B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000345969.1	NM_001114633		20	56	0	0	0	1	0	20	56					G	42132808	A	G	42132808	3	3	286	1	0	0	0	0	1	0	0	0	7955	420	15	4	892	4	JMJD7-PLA2G4B	15	42132808	Missense_Mutation	SNP	A	TCGA-J9-A52C-01A-11D-A26M-08	319513	42132808	60398584	477	13607											
TP53BP1	7158	broad.mit.edu	37	chr15	43708462	43708462	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctttgtaagaggtgttactgCttcataggggccaagcccat	9	12	11	9	0	1	1	1	0	0	1	1	1	1	1	2	3	3	3	2	3	4	5			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr15:43708462C>T	ENST00000263801.3	-	22	5071	c.4819G>A	c.(4819-4821)Gca>Aca	p.A1607T	TP53BP1_ENST00000382044.4_Missense_Mutation_p.A1612T|TP53BP1_ENST00000382039.3_Missense_Mutation_p.A1562T|TP53BP1_ENST00000450115.2_Missense_Mutation_p.A1612T	NM_005657.2	NP_005648.1	Q12888	TP53B_HUMAN	tumor protein p53 binding protein 1	1607					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|replication fork (GO:0005657)	damaged DNA binding (GO:0003684)|methylated histone binding (GO:0035064)|p53 binding (GO:0002039)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II transcription cofactor activity (GO:0001104)|telomeric DNA binding (GO:0042162)			breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3)	72		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;1.59e-06)		GGTGTTACTGCTTCATAGGGG	0.478								Other conserved DNA damage response genes																														ENST00000263801.3																			0				breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3)	72						c.(4819-4821)Gca>Aca	Other conserved DNA damage response genes	tumor protein p53 binding protein 1							166	141	149					15																	43708462		2201	4298	6499	SO:0001583	missense	7158				double-strand break repair via homologous recombination|positive regulation of transcription from RNA polymerase II promoter	condensed chromosome kinetochore|cytoplasm|nucleoplasm	p53 binding|RNA polymerase II activating transcription factor binding|RNA polymerase II transcription cofactor activity	g.chr15:43708462C>T	U09477	CCDS10096.1, CCDS45250.1, CCDS45251.1	15q15-q21	2007-08-02	2007-08-02		ENSG00000067369	ENSG00000067369			11999	protein-coding gene	gene with protein product		605230	"tumor protein p53-binding protein, 1"			8016121, 9748285	Standard	NM_005657		Approved	53BP1, p202	uc001zrr.4	Q12888	OTTHUMG00000059757	ENST00000263801.3:c.4819G>A	15.37:g.43708462C>T	ENSP00000263801:p.Ala1607Thr					TP53BP1_ENST00000450115.2_Missense_Mutation_p.A1612T|TP53BP1_ENST00000382039.3_Missense_Mutation_p.A1562T|TP53BP1_ENST00000382044.4_Missense_Mutation_p.A1612T	p.A1607T	NM_005657.2	NP_005648.1	Q12888	TP53B_HUMAN		GBM - Glioblastoma multiforme(94;1.59e-06)	22	5071	-		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)	1607					F8VY86|Q2M1Z7|Q4LE46|Q5FWZ3|Q7Z3U4	Missense_Mutation	SNP	ENST00000263801.3	37	c.4819G>A	CCDS10096.1	.	.	.	.	.	.	.	.	.	.	C	25.4	4.638035	0.87760	.	.	ENSG00000067369	ENST00000263801;ENST00000382044;ENST00000382039;ENST00000450115	T;T;T;T	0.04275	3.67;3.66;3.69;3.66	5.57	4.59	0.56863	.	0.114018	0.64402	D	0.000013	T	0.05960	0.0155	N	0.14661	0.345	0.38844	D	0.956135	D;B;B;B	0.56521	0.976;0.127;0.417;0.201	P;B;B;B	0.52598	0.703;0.03;0.066;0.066	T	0.53634	-0.8411	10	0.29301	T	0.29	-15.1895	13.1226	0.59336	0.0:0.6266:0.3734:0.0	.	1612;1607;1612;1612	B7Z3E7;Q12888;Q12888-2;F8VY86	.;TP53B_HUMAN;.;.	T	1607;1612;1562;1612	ENSP00000263801:A1607T;ENSP00000371475:A1612T;ENSP00000371470:A1562T;ENSP00000393497:A1612T	ENSP00000263801:A1607T	A	-	1	0	TP53BP1	41495754	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	4.574000	0.60900	2.785000	0.95823	0.591000	0.81541	GCA		0.478	TP53BP1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000132897.3			10	57	0	0	0	1	0	10	57					T	43708462	C	T	43708462	3	4	286	1	0	0	0	0	1	0	0	0	16380	797	28	3	1127	3	TP53BP1	15	43708462	Missense_Mutation	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	1575654	43708462	58822930	478	13608											
MYO5A	4644	broad.mit.edu	37	chr15	52664400	52664400	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcttatagcgctccactgagCgagcctcgattttgagcttc	7	13	9	12	3	1	2	0	2	1	0	4	4	2	2	2	0	4	2	2	0	2	5			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr15:52664400C>T	ENST00000399231.3	-	21	2981	c.2738G>A	c.(2737-2739)cGc>cAc	p.R913H	MYO5A_ENST00000399233.2_Missense_Mutation_p.R913H|MYO5A_ENST00000356338.6_Missense_Mutation_p.R913H|MYO5A_ENST00000358212.6_Missense_Mutation_p.R913H|MYO5A_ENST00000553916.1_Missense_Mutation_p.R913H	NM_000259.3	NP_000250	Q9Y4I1	MYO5A_HUMAN	myosin VA (heavy chain 12, myoxin)	913	IQ 6. {ECO:0000255|PROSITE- ProRule:PRU00116}.				actin filament-based movement (GO:0030048)|anagen (GO:0042640)|cellular protein metabolic process (GO:0044267)|cellular response to insulin stimulus (GO:0032869)|endoplasmic reticulum localization (GO:0051643)|exocytosis (GO:0006887)|insulin secretion (GO:0030073)|locomotion involved in locomotory behavior (GO:0031987)|long-chain fatty acid biosynthetic process (GO:0042759)|melanin biosynthetic process (GO:0042438)|melanocyte differentiation (GO:0030318)|melanosome transport (GO:0032402)|membrane organization (GO:0061024)|myelination (GO:0042552)|odontogenesis (GO:0042476)|post-Golgi vesicle-mediated transport (GO:0006892)|protein localization to plasma membrane (GO:0072659)|protein transport (GO:0015031)|regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031585)|secretory granule localization (GO:0032252)|synapse organization (GO:0050808)|synaptic transmission (GO:0007268)|transport (GO:0006810)|vesicle transport along actin filament (GO:0030050)|vesicle-mediated transport (GO:0016192)|visual perception (GO:0007601)	actomyosin (GO:0042641)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium tip (GO:0032433)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|insulin-responsive compartment (GO:0032593)|intermediate filament (GO:0005882)|melanosome (GO:0042470)|membrane (GO:0016020)|microtubule plus-end (GO:0035371)|myosin complex (GO:0016459)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|photoreceptor outer segment (GO:0001750)|ruffle (GO:0001726)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|microfilament motor activity (GO:0000146)|poly(A) RNA binding (GO:0044822)|Rab GTPase binding (GO:0017137)			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(12)|lung(19)|ovary(3)|skin(3)|stomach(1)	57				all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196)		CTCCACTGAGCGAGCCTCGAT	0.522																																						ENST00000399231.3																			0				breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(12)|lung(19)|ovary(3)|skin(3)|stomach(1)	57						c.(2737-2739)cGc>cAc		myosin VA (heavy chain 12, myoxin)							73	70	71					15																	52664400		1991	4175	6166	SO:0001583	missense	4644				actin filament-based movement|transport	cytoplasm|growth cone|myosin complex|ruffle	actin binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr15:52664400C>T		CCDS42037.1, CCDS45262.1	15q21	2014-09-17	2006-09-29		ENSG00000197535	ENSG00000197535		"Myosins / Myosin superfamily : Class V"	7602	protein-coding gene	gene with protein product	"myosin, heavy polypeptide kinase", "myosin heavy chain 12", "myoxin", "myosin V"	160777	"myosin VA (heavy polypeptide 12, myoxin)"	MYH12		8188282, 8022818	Standard	NM_000259		Approved	MYO5, GS1, MYR12	uc002aby.2	Q9Y4I1	OTTHUMG00000137383	ENST00000399231.3:c.2738G>A	15.37:g.52664400C>T	ENSP00000382177:p.Arg913His					MYO5A_ENST00000356338.6_Missense_Mutation_p.R913H|MYO5A_ENST00000399233.2_Missense_Mutation_p.R913H|MYO5A_ENST00000358212.6_Missense_Mutation_p.R913H|MYO5A_ENST00000553916.1_Missense_Mutation_p.R913H	p.R913H	NM_000259.3	NP_000250.3	Q9Y4I1	MYO5A_HUMAN		all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196)	21	2981	-			913			IQ 6.		A8MZC5|O60653|Q07902|Q16249|Q9UE30|Q9UE31	Missense_Mutation	SNP	ENST00000399231.3	37	c.2738G>A	CCDS42037.1	.	.	.	.	.	.	.	.	.	.	C	35	5.584713	0.96578	.	.	ENSG00000197535	ENST00000399231;ENST00000399229;ENST00000399233;ENST00000356338;ENST00000358212;ENST00000546028;ENST00000553916	T;T;T;T;T	0.34072	1.38;1.38;1.38;1.38;1.38	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	T	0.67813	0.2933	M	0.89095	3.005	0.80722	D	1	D;P	0.76494	0.999;0.925	D;B	0.66979	0.948;0.271	T	0.72597	-0.4245	10	0.87932	D	0	.	20.3472	0.98799	0.0:1.0:0.0:0.0	.	913;913	Q9Y4I1;Q9Y4I1-2	MYO5A_HUMAN;.	H	913;447;913;913;913;543;913	ENSP00000382177:R913H;ENSP00000382179:R913H;ENSP00000348693:R913H;ENSP00000350945:R913H;ENSP00000451109:R913H	ENSP00000348693:R913H	R	-	2	0	MYO5A	50451692	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.445000	0.80570	2.890000	0.99128	0.650000	0.86243	CGC		0.522	MYO5A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000268102.1	NM_000259		12	35	0	0	0	1	0	12	35					T	52664400	C	T	52664400	3	4	286	1	0	0	0	0	1	0	0	0	10078	768	27	1	2913	1	MYO5A	15	52664400	Missense_Mutation	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	8955938	52664400	49866992	479	13609											
PIGB	9488	broad.mit.edu	37	chr15	55621921	55621922	+	Splice_Site	INS	-	-	T																															tgctctgtactttttcttagINStttttttgccagttgtgctc																										TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr15:55621921_55621922insT	ENST00000164305.5	+	5	813_814		c.e5-1		PIGB_ENST00000539642.1_Splice_Site	NM_004855.4	NP_004846.4	Q92521	PIGB_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class B						C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|GPI anchor biosynthetic process (GO:0006506)|mannosylation (GO:0097502)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	mannosyltransferase activity (GO:0000030)			endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	11				all cancers(107;0.0255)		CTTTTTCTTAGTTTTTTTGCCA	0.342																																						ENST00000164305.5																			0				endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	11						c.e5-1		phosphatidylinositol glycan anchor biosynthesis, class B																																				SO:0001630	splice_region_variant	9488				C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	integral to membrane|intrinsic to endoplasmic reticulum membrane	glycolipid mannosyltransferase activity	g.chr15:55621921_55621922insT	D42138	CCDS61641.1	15q21.3	2013-02-26	2006-06-28		ENSG00000069943	ENSG00000069943		"Dolichyl D-mannosyl phosphate dependent mannosyltransferases", "Phosphatidylinositol glycan anchor biosynthesis"	8959	protein-coding gene	gene with protein product	"GPI mannosyltransferase 3", "dol-P-Man dependent GPI mannosyltransferase"	604122	"phosphatidylinositol glycan, class B"			8861954	Standard	NM_004855		Approved		uc002act.3	Q92521	OTTHUMG00000172654	ENST00000164305.5:c.523-1->T	15.37:g.55621928_55621928dupT						PIGB_ENST00000539642.1_Splice_Site		NM_004855.4	NP_004846.4	Q92521	PIGB_HUMAN		all cancers(107;0.0255)	5	813_814	+								Q53FF9|Q8WVN7	Splice_Site	INS	ENST00000164305.5	37																																																																																						0.342	PIGB-001	KNOWN	non_canonical_conserved|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000419687.1	NM_004855	Intron	16	78						16	78	---	---	---	---	T	55621922	-	T	55621921	8	5	286	1	0	1	1	0	0	0	1	0	11885	1043	36	0	540	0	PIGB	15	55621921	Splice_Site	INS	-	TCGA-J9-A52C-01A-11D-A26M-08	2957521	55621921	46909471	480	13610											
SNX1	6642	broad.mit.edu	37	chr15	64418402	64418402	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cttcattgtccctccgccccCggagaagagcctcataggta	8	9	9	15	2	2	2	2	0	0	2	4	3	4	2	5	2	1	1	5	2	3	4			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr15:64418402C>T	ENST00000559844.1	+	6	649	c.635C>T	c.(634-636)cCg>cTg	p.P212L	SNX1_ENST00000560829.1_Intron|SNX1_ENST00000353874.4_Missense_Mutation_p.P212L|SNX1_ENST00000561026.1_Missense_Mutation_p.P147L|SNX1_ENST00000261889.5_Missense_Mutation_p.P212L			Q13596	SNX1_HUMAN	sorting nexin 1	212	PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.				early endosome to Golgi transport (GO:0034498)|intracellular protein transport (GO:0006886)|positive regulation of protein catabolic process (GO:0045732)	cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|early endosome membrane (GO:0031901)|endosome membrane (GO:0010008)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|protein complex (GO:0043234)|retromer complex (GO:0030904)	epidermal growth factor receptor binding (GO:0005154)|insulin receptor binding (GO:0005158)|leptin receptor binding (GO:1990460)|phosphatidylinositol binding (GO:0035091)|transferrin receptor binding (GO:1990459)			breast(1)|endometrium(1)|large_intestine(5)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	13						CCTCCGCCCCCGGAGAAGAGC	0.433																																						ENST00000353874.4																			0				breast(1)|endometrium(1)|large_intestine(5)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	13						c.(634-636)cCg>cTg		sorting nexin 1							57	58	57					15																	64418402		2203	4300	6503	SO:0001583	missense	6642				cell communication|early endosome to Golgi transport|endocytosis|intracellular protein transport	early endosome membrane|Golgi apparatus	phosphatidylinositol binding|protein binding|protein transporter activity	g.chr15:64418402C>T	BC000357	CCDS32266.1, CCDS32268.1, CCDS58371.1	15q22.31	2011-05-03			ENSG00000028528	ENSG00000028528		"Sorting nexins"	11172	protein-coding gene	gene with protein product		601272				8638121	Standard	NM_003099		Approved	SNX1A, MGC8664, HsT17379, Vps5	uc010uio.2	Q13596		ENST00000559844.1:c.635C>T	15.37:g.64418402C>T	ENSP00000453785:p.Pro212Leu					SNX1_ENST00000261889.5_Missense_Mutation_p.P212L|SNX1_ENST00000559844.1_Missense_Mutation_p.P212L|SNX1_ENST00000561026.1_Missense_Mutation_p.P147L|SNX1_ENST00000560829.1_Intron	p.P212L			Q13596	SNX1_HUMAN			6	671	+			212			PX.		A6NM19|A8K6T7|H0Y2M5|O60750|O60751|Q6ZRJ8	Missense_Mutation	SNP	ENST00000559844.1	37	c.635C>T	CCDS32266.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.969050	0.74131	.	.	ENSG00000028528	ENST00000380285;ENST00000353874;ENST00000261889	T	0.79940	-1.32	6.16	6.16	0.99307	Phox homologous domain (5);	0.000000	0.85682	D	0.000000	D	0.95175	0.8436	H	0.99740	4.74	0.80722	D	1	D;P;D;P;D;D	0.89917	0.965;0.842;0.987;0.626;1.0;0.987	P;P;P;B;D;P	0.78314	0.763;0.742;0.829;0.17;0.991;0.829	D	0.96742	0.9547	10	0.87932	D	0	-8.2647	19.848	0.96722	0.0:1.0:0.0:0.0	.	212;122;212;147;212;212	Q6ZRJ8;Q59GU6;Q53GY8;Q13596-2;A6NKH4;Q13596	.;.;.;.;.;SNX1_HUMAN	L	212;212;147	ENSP00000326668:P212L	ENSP00000261889:P147L	P	+	2	0	SNX1	62205455	1.000000	0.71417	0.462000	0.27118	0.153000	0.21895	7.818000	0.86416	2.937000	0.99478	0.650000	0.86243	CCG		0.433	SNX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418559.1	NM_003099		6	25	0	0	0	1	0	6	25					T	64418402	C	T	64418402	3	4	286	1	0	0	0	0	1	0	0	0	14880	652	23	2	657	2	SNX1	15	64418402	Missense_Mutation	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	8796481	64418402	38112990	481	13611											
GRAMD2	196996	broad.mit.edu	37	chr15	72455746	72455746	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggcatcttcttagggcaggCaggaccccagcctggcatgg	7	7	14	13	1	2	0	0	0	2	0	2	1	2	1	3	6	1	4	3	6	1	2			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr15:72455746C>T	ENST00000309731.7	-	10	830	c.817G>A	c.(817-819)Gcc>Acc	p.A273T	GRAMD2_ENST00000564184.1_5'UTR	NM_001012642.2	NP_001012660.1	Q8IUY3	GRAM2_HUMAN	GRAM domain containing 2	273						integral component of membrane (GO:0016021)				cervix(2)|endometrium(1)|large_intestine(4)|lung(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	13						TTAGGGCAGGCAGGACCCCAG	0.532																																						ENST00000309731.7																			0				cervix(2)|endometrium(1)|large_intestine(4)|lung(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	13						c.(817-819)Gcc>Acc		GRAM domain containing 2							103	106	105					15																	72455746		2199	4297	6496	SO:0001583	missense	196996					integral to membrane		g.chr15:72455746C>T	AK002016	CCDS32283.1	15q23	2006-11-29	2005-11-03	2005-11-03					27287	protein-coding gene	gene with protein product						12477932	Standard	NM_001012642		Approved		uc002atq.3	Q8IUY3		ENST00000309731.7:c.817G>A	15.37:g.72455746C>T	ENSP00000311657:p.Ala273Thr					GRAMD2_ENST00000564184.1_5'UTR	p.A273T	NM_001012642.2	NP_001012660.1	Q8IUY3	GRAM2_HUMAN			10	830	-			273					B3KT68	Missense_Mutation	SNP	ENST00000309731.7	37	c.817G>A	CCDS32283.1	.	.	.	.	.	.	.	.	.	.	C	7.672	0.687219	0.14973	.	.	ENSG00000175318	ENST00000309731	T	0.30448	1.53	3.42	-0.417	0.12347	.	2.607290	0.01651	N	0.024581	T	0.18299	0.0439	N	0.22421	0.69	0.09310	N	1	B	0.30068	0.267	B	0.19666	0.026	T	0.10917	-1.0609	10	0.11794	T	0.64	.	6.9702	0.24644	0.5901:0.2726:0.1373:0.0	.	273	Q8IUY3	GRAM2_HUMAN	T	273	ENSP00000311657:A273T	ENSP00000311657:A273T	A	-	1	0	GRAMD2	70242800	0.000000	0.05858	0.000000	0.03702	0.302000	0.27658	0.015000	0.13355	-0.065000	0.13021	0.591000	0.81541	GCC		0.532	GRAMD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000420040.1	NM_001012642		5	81	0	0	0	1	0	5	81					T	72455746	C	T	72455746	3	4	286	1	0	0	0	0	1	0	0	0	6750	710	25	3	259	3	GRAMD2	15	72455746	Missense_Mutation	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	8037344	72455746	30075646	482	13612											
EDC3	80153	broad.mit.edu	37	chr15	74948199	74948199	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	catttgggatgccccgggaaCgggtaccacttctcctttca	7	11	10	13	2	2	0	1	0	1	0	3	2	2	2	4	3	3	1	4	3	2	4			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr15:74948199C>T	ENST00000315127.4	-	4	876	c.695G>A	c.(694-696)cGt>cAt	p.R232H	EDC3_ENST00000426797.3_Missense_Mutation_p.R232H|EDC3_ENST00000568176.1_Missense_Mutation_p.R232H	NM_001142444.1|NM_025083.3	NP_001135916.1|NP_079359.2	Q96F86	EDC3_HUMAN	enhancer of mRNA decapping 3	232	Required for interaction with DDX6. {ECO:0000250}.				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)	cytosol (GO:0005829)|membrane (GO:0016020)	identical protein binding (GO:0042802)|RNA binding (GO:0003723)			breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	16						GCCCCGGGAACGGGTACCACT	0.502																																						ENST00000315127.4																			0				breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	16						c.(694-696)cGt>cAt		enhancer of mRNA decapping 3							125	115	118					15																	74948199		2197	4296	6493	SO:0001583	missense	80153				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	cytoplasmic mRNA processing body|cytosol	protein binding|RNA binding	g.chr15:74948199C>T	BC011534	CCDS10267.1	15q24.1	2013-05-02	2013-05-02	2006-07-07	ENSG00000179151	ENSG00000179151			26114	protein-coding gene	gene with protein product		609842	"yjeF domain containing (E.coli)", "LSM16 homolog (EDC3, S. cerevisiae)", "enhancer of mRNA decapping 3 homolog (S. cerevisiae)"	YJDC, LSM16		15225602, 17533573, 22483619	Standard	NM_025083		Approved	FLJ21128, hYjeF_N2-15q23, YJEFN2	uc002aym.3	Q96F86	OTTHUMG00000142815	ENST00000315127.4:c.695G>A	15.37:g.74948199C>T	ENSP00000320503:p.Arg232His					EDC3_ENST00000426797.3_Missense_Mutation_p.R232H|EDC3_ENST00000568176.1_Missense_Mutation_p.R232H	p.R232H	NM_001142444.1|NM_025083.3	NP_001135916.1|NP_079359.2	Q96F86	EDC3_HUMAN			4	876	-			232			Required for interaction with DDX6 (By similarity).		B3KPH0|D3DW61|Q9H797	Missense_Mutation	SNP	ENST00000315127.4	37	c.695G>A	CCDS10267.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.137635	0.77775	.	.	ENSG00000179151	ENST00000315127;ENST00000426797	.	.	.	5.54	4.62	0.57501	.	0.101132	0.64402	D	0.000006	T	0.51652	0.1687	L	0.36672	1.1	0.58432	D	0.999997	P	0.50710	0.938	P	0.49752	0.621	T	0.53563	-0.8421	9	0.52906	T	0.07	-11.3451	13.3665	0.60687	0.0:0.9244:0.0:0.0756	.	232	Q96F86	EDC3_HUMAN	H	232	.	ENSP00000320503:R232H	R	-	2	0	EDC3	72735252	0.998000	0.40836	0.786000	0.31890	0.917000	0.54804	4.334000	0.59291	1.335000	0.45486	0.655000	0.94253	CGT		0.502	EDC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286399.1	NM_025083		11	51	0	0	0	1	0	11	51					T	74948199	C	T	74948199	3	4	286	1	0	0	0	0	1	0	0	0	4907	536	19	1	847	1	EDC3	15	74948199	Missense_Mutation	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	2492453	74948199	27583193	483	13613											
CYP1A2	1544	broad.mit.edu	37	chr15	75047381	75047381	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacgggctgaccatgaagcaCgcccgctgtgaacatgtcca	10	7	11	13	3	0	3	0	3	0	0	1	3	1	3	3	1	3	3	3	1	3	1	rs111900570		TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr15:75047381C>T	ENST00000343932.4	+	7	1566	c.1503C>T	c.(1501-1503)caC>caT	p.H501H		NM_000761.3	NP_000752.2	P05177	CP1A2_HUMAN	cytochrome P450, family 1, subfamily A, polypeptide 2	501					alkaloid metabolic process (GO:0009820)|arachidonic acid metabolic process (GO:0019369)|cellular respiration (GO:0045333)|cellular response to cadmium ion (GO:0071276)|dibenzo-p-dioxin metabolic process (GO:0018894)|drug catabolic process (GO:0042737)|drug metabolic process (GO:0017144)|epoxygenase P450 pathway (GO:0019373)|exogenous drug catabolic process (GO:0042738)|heterocycle metabolic process (GO:0046483)|hydrogen peroxide biosynthetic process (GO:0050665)|lung development (GO:0030324)|methylation (GO:0032259)|monocarboxylic acid metabolic process (GO:0032787)|monoterpenoid metabolic process (GO:0016098)|omega-hydroxylase P450 pathway (GO:0097267)|oxidation-reduction process (GO:0055114)|oxidative deethylation (GO:0071615)|oxidative demethylation (GO:0070989)|porphyrin-containing compound metabolic process (GO:0006778)|post-embryonic development (GO:0009791)|regulation of gene expression (GO:0010468)|response to estradiol (GO:0032355)|response to lipopolysaccharide (GO:0032496)|small molecule metabolic process (GO:0044281)|steroid catabolic process (GO:0006706)|toxin biosynthetic process (GO:0009403)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)	aromatase activity (GO:0070330)|caffeine oxidase activity (GO:0034875)|demethylase activity (GO:0032451)|electron carrier activity (GO:0009055)|enzyme binding (GO:0019899)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity (GO:0016491)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen (GO:0016712)			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	33					"""Insulin(DB00071)|Acenocoumarol(DB01418)|Acetaminophen(DB00316)|Agomelatine(DB06594)|Albendazole(DB00518)|Alitretinoin(DB00523)|Almotriptan(DB00918)|Alosetron(DB00969)|Aminoglutethimide(DB00357)|Aminophenazone(DB01424)|Aminophylline(DB01223)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Anagrelide(DB00261)|Anastrozole(DB01217)|Antipyrine(DB01435)|Apixaban(DB06605)|Aprepitant(DB00673)|Asenapine(DB06216)|Atropine(DB00572)|Axitinib(DB06626)|Azelastine(DB00972)|Azithromycin(DB00207)|Benzyl alcohol(DB06770)|Betaxolol(DB00195)|Bortezomib(DB00188)|Bromazepam(DB01558)|Bromocriptine(DB01200)|Bupivacaine(DB00297)|Buprenorphine(DB00921)|Bupropion(DB01156)|Caffeine(DB00201)|Carbamazepine(DB00564)|Carmustine(DB00262)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Cimetidine(DB00501)|Cinacalcet(DB01012)|Cinnarizine(DB00568)|Ciprofloxacin(DB00537)|Cisapride(DB00604)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clenbuterol(DB01407)|Clevidipine(DB04920)|Clobetasol propionate(DB01013)|Clomifene(DB00882)|Clomipramine(DB01242)|Clonidine(DB00575)|Clopidogrel(DB00758)|Clotrimazole(DB00257)|Clozapine(DB00363)|Conjugated Estrogens(DB00286)|Cyclobenzaprine(DB00924)|Dacarbazine(DB00851)|Dapagliflozin(DB06292)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Delavirdine(DB00705)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexfenfluramine(DB01191)|Dexmedetomidine(DB00633)|Diazepam(DB00829)|Diclofenac(DB00586)|Dinoprostone(DB00917)|Diphenhydramine(DB01075)|Domperidone(DB01184)|Dopamine(DB00988)|Doxepin(DB01142)|Duloxetine(DB00476)|Edetic Acid(DB00974)|Efavirenz(DB00625)|Eltrombopag(DB06210)|Enoxacin(DB00467)|Epinephrine(DB00668)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Estradiol(DB00783)|Estrone(DB00655)|Estropipate(DB04574)|Ethanol(DB00898)|Etoposide(DB00773)|Etoricoxib(DB01628)|Flunarizine(DB04841)|Flunitrazepam(DB01544)|Fluorouracil(DB00544)|Fluoxetine(DB00472)|Fluphenazine(DB00623)|Flutamide(DB00499)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Frovatriptan(DB00998)|Gemfibrozil(DB01241)|Griseofulvin(DB00400)|Guanabenz(DB00629)|Haloperidol(DB00502)|Hesperetin(DB01094)|Hexobarbital(DB01355)|Iloperidone(DB04946)|Imatinib(DB00619)|Imipramine(DB00458)|Imiquimod(DB00724)|inhaled insulin(DB05278)|Insulin Aspart(DB01306)|Insulin Detemir(DB01307)|Insulin Glargine(DB00047)|Insulin Glulisine(DB01309)|Insulin Lispro(DB00046)|Insulin Regular(DB00030)|Irbesartan(DB01029)|Isoniazid(DB00951)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Leflunomide(DB01097)|Levobupivacaine(DB01002)|Levofloxacin(DB01137)|Lidocaine(DB00281)|Lomefloxacin(DB00978)|Lopinavir(DB01601)|Lorcaserin(DB04871)|Losartan(DB00678)|Lumiracoxib(DB01283)|Malathion(DB00772)|Maprotiline(DB00934)|Meclizine(DB00737)|Melatonin(DB01065)|Menadione(DB00170)|Methadone(DB00333)|Methimazole(DB00763)|Methotrimeprazine(DB01403)|Methoxsalen(DB00553)|Methoxyflurane(DB01028)|Mexiletine(DB00379)|Mianserin(DB06148)|Miconazole(DB01110)|Mirtazapine(DB00370)|Moclobemide(DB01171)|Modafinil(DB00745)|Nabumetone(DB00461)|Nafcillin(DB00607)|Naproxen(DB00788)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Niclosamide(DB06803)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nisoldipine(DB00401)|Nitric Oxide(DB00435)|Nitroprusside(DB00325)|Norepinephrine(DB00368)|Norfloxacin(DB01059)|Nortriptyline(DB00540)|Ofloxacin(DB01165)|Olanzapine(DB00334)|Omeprazole(DB00338)|Ondansetron(DB00904)|Oxaliplatin(DB00526)|Oxtriphylline(DB01303)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Pazopanib(DB06589)|Pefloxacin(DB00487)|Pentamidine(DB00738)|Pentoxifylline(DB00806)|Perphenazine(DB00850)|Phenobarbital(DB01174)|Phentermine(DB00191)|Phenylephrine(DB00388)|Phenylpropanolamine(DB00397)|Pimozide(DB01100)|Pipotiazine(DB01621)|Pomalidomide(DB08910)|Praziquantel(DB01058)|Primaquine(DB01087)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Propafenone(DB01182)|Propofol(DB00818)|Propranolol(DB00571)|Pyrazinamide(DB00339)|Quinidine(DB00908)|Quinine(DB00468)|Rabeprazole(DB01129)|Ramelteon(DB00980)|Ranitidine(DB00863)|Rasagiline(DB01367)|Rifabutin(DB00615)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Riluzole(DB00740)|Ritonavir(DB00503)|Rizatriptan(DB00953)|Ropinirole(DB00268)|Ropivacaine(DB00296)|Rosiglitazone(DB00412)|Rotigotine(DB05271)|Roxithromycin(DB00778)|Secobarbital(DB00418)|Selegiline(DB01037)|Sertraline(DB01104)|SIMEPREVIR(DB06290)|Sorafenib(DB00398)|Streptozocin(DB00428)|Sulindac(DB00605)|Tamoxifen(DB00675)|Telithromycin(DB00976)|Tenofovir(DB00300)|Terbinafine(DB00857)|Thalidomide(DB01041)|Theobromine(DB01412)|Theophylline(DB00277)|Thiabendazole(DB00730)|Thioridazine(DB00679)|Thiothixene(DB01623)|Ticlopidine(DB00208)|Tioconazole(DB01007)|Tizanidine(DB00697)|Tocainide(DB01056)|Toremifene(DB00539)|Tranylcypromine(DB00752)|Triamterene(DB00384)|Trifluoperazine(DB00831)|Valproic Acid(DB00313)|Vemurafenib(DB08881)|Verapamil(DB00661)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zileuton(DB00744)|Ziprasidone(DB00246)|Zolmitriptan(DB00315)|Zolpidem(DB00425)"	CCATGAAGCACGCCCGCTGTG	0.627																																						ENST00000343932.4																			0				breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	33						c.(1501-1503)caC>caT		cytochrome P450, family 1, subfamily A, polypeptide 2	Acenocoumarol(DB01418)|Acetaminophen(DB00316)|Aciclovir(DB00787)|Alosetron(DB00969)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Anagrelide(DB00261)|Azelastine(DB00972)|Bortezomib(DB00188)|Caffeine(DB00201)|Carmustine(DB00262)|Chlordiazepoxide(DB00475)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cimetidine(DB00501)|Cinacalcet(DB01012)|Ciprofloxacin(DB00537)|Clomipramine(DB01242)|Clotrimazole(DB00257)|Clozapine(DB00363)|Conjugated Estrogens(DB00286)|Cyclobenzaprine(DB00924)|Dacarbazine(DB00851)|Desloratadine(DB00967)|Diazepam(DB00829)|Dibucaine(DB00527)|Diclofenac(DB00586)|Duloxetine(DB00476)|Enoxacin(DB00467)|Esomeprazole(DB00736)|Estradiol(DB00783)|Estrone(DB00655)|Fluorouracil(DB00544)|Flutamide(DB00499)|Fluvoxamine(DB00176)|Frovatriptan(DB00998)|Grepafloxacin(DB00365)|Haloperidol(DB00502)|Hesperetin(DB01094)|Imipramine(DB00458)|Ketoconazole(DB01026)|Leflunomide(DB01097)|Levobupivacaine(DB01002)|Levofloxacin(DB01137)|Lidocaine(DB00281)|Lomefloxacin(DB00978)|Melatonin(DB01065)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mirtazapine(DB00370)|Norfloxacin(DB01059)|Nortriptyline(DB00540)|Ofloxacin(DB01165)|Olanzapine(DB00334)|Ondansetron(DB00904)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Pefloxacin(DB00487)|Pimozide(DB01100)|Propafenone(DB01182)|Propranolol(DB00571)|Quinidine(DB00908)|Ramelteon(DB00980)|Ranitidine(DB00863)|Rasagiline(DB01367)|Rifampin(DB01045)|Riluzole(DB00740)|Rofecoxib(DB00533)|Ropinirole(DB00268)|Ropivacaine(DB00296)|Tacrine(DB00382)|Telithromycin(DB00976)|Terfenadine(DB00342)|Theophylline(DB00277)|Thiabendazole(DB00730)|Tizanidine(DB00697)|Tolbutamide(DB01124)|Verapamil(DB00661)|Warfarin(DB00682)|Zileuton(DB00744)|Zolmitriptan(DB00315)	C		0,4394		0,0,2197	61	53	56		1503	-3.7	0	15	dbSNP_132	56	1,8591	1.2+/-3.3	0,1,4295	no	coding-synonymous	CYP1A2	NM_000761.3		0,1,6492	TT,TC,CC		0.0116,0.0,0.0077		501/517	75047381	1,12985	2197	4296	6493	SO:0001819	synonymous_variant	1544				alkaloid metabolic process|exogenous drug catabolic process|methylation|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative deethylation|oxidative demethylation|steroid catabolic process|toxin biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|caffeine oxidase activity|demethylase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding	g.chr15:75047381C>T	AF182274	CCDS32293.1	15q24.1	2013-11-11	2003-01-14		ENSG00000140505	ENSG00000140505	1.14.14.1	"Cytochrome P450s"	2596	protein-coding gene	gene with protein product		124060	"cytochrome P450, subfamily I (aromatic compound-inducible), polypeptide 2"			15128046	Standard	NM_000761		Approved	P3-450, CP12	uc002ayr.1	P05177	OTTHUMG00000172901	ENST00000343932.4:c.1503C>T	15.37:g.75047381C>T							p.H501H	NM_000761.3	NP_000752.2	P05177	CP1A2_HUMAN			7	1566	+			501					Q16754|Q6NWU5|Q9BXX7|Q9UK49	Silent	SNP	ENST00000343932.4	37	c.1503C>T	CCDS32293.1																																																																																				0.627	CYP1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421263.2	NM_000761		14	44	0	0	0	1	0	14	44					T	75047381	C	T	75047381	2	4	286	1	0	0	0	0	0	0	0	1	4150	535	19	1		1	CYP1A2	15	75047381	Silent	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	99182	75047381	27484011	484	13614											
NTRK3	4916	broad.mit.edu	37	chr15	88423505	88423505	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcaccccctttttacctccGtgtttgagagttggaaccat	7	13	8	13	2	0	1	0	1	0	1	1	3	1	2	5	1	2	3	5	1	2	5			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr15:88423505G>A	ENST00000360948.2	-	18	2491	c.2330C>T	c.(2329-2331)aCg>aTg	p.T777M	NTRK3_ENST00000355254.2_Missense_Mutation_p.T763M|NTRK3_ENST00000357724.2_Missense_Mutation_p.T769M|NTRK3_ENST00000557856.1_Missense_Mutation_p.T755M|NTRK3_ENST00000394480.2_Missense_Mutation_p.T763M	NM_001012338.2	NP_001012338.1	Q16288	NTRK3_HUMAN	neurotrophic tyrosine kinase, receptor, type 3	777	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|activation of protein kinase B activity (GO:0032148)|activation of Ras GTPase activity (GO:0032856)|cellular response to retinoic acid (GO:0071300)|circadian rhythm (GO:0007623)|cochlea development (GO:0090102)|lens fiber cell differentiation (GO:0070306)|mechanoreceptor differentiation (GO:0042490)|modulation by virus of host transcription (GO:0019056)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell death (GO:0060548)|negative regulation of protein phosphorylation (GO:0001933)|neuron fate specification (GO:0048665)|neuron migration (GO:0001764)|neurotrophin signaling pathway (GO:0038179)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of axon extension involved in regeneration (GO:0048691)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of positive chemotaxis (GO:0050927)|protein autophosphorylation (GO:0046777)|response to axon injury (GO:0048678)|response to corticosterone (GO:0051412)|response to ethanol (GO:0045471)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|neurotrophin binding (GO:0043121)|neurotrophin receptor activity (GO:0005030)|p53 binding (GO:0002039)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)		ETV6/NTRK3(238)	breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)	119			BRCA - Breast invasive adenocarcinoma(143;0.211)			TTTTACCTCCGTGTTTGAGAG	0.502			T	ETV6	"congenital fibrosarcoma, Secretory breast "					TSP Lung(13;0.10)																												ENST00000394480.1				Dom	yes		15	15q25	4916	T	"neurotrophic tyrosine kinase, receptor, type 3"			"E, M"	ETV6		"congenital fibrosarcoma, Secretory breast "	ETV6/NTRK3(238)	0				breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)	119						c.(2287-2289)aCg>aTg		neurotrophic tyrosine kinase, receptor, type 3							127	121	123					15																	88423505		2201	4299	6500	SO:0001583	missense	4916				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr15:88423505G>A	U05012	CCDS10340.1, CCDS32322.1, CCDS32323.1, CCDS58399.1	15q24-q25	2013-01-11			ENSG00000140538	ENSG00000140538	2.7.10.1	"Immunoglobulin superfamily / I-set domain containing"	8033	protein-coding gene	gene with protein product		191316				7806211	Standard	NM_001012338		Approved	TRKC	uc002bme.2	Q16288	OTTHUMG00000148677	ENST00000360948.2:c.2330C>T	15.37:g.88423505G>A	ENSP00000354207:p.Thr777Met	TSP Lung(13;0.10)				NTRK3_ENST00000557856.1_Missense_Mutation_p.T755M|NTRK3_ENST00000355254.2_Missense_Mutation_p.T763M|NTRK3_ENST00000357724.2_Missense_Mutation_p.T769M|NTRK3_ENST00000360948.2_Missense_Mutation_p.T777M	p.T763M	NM_001243101.1|NM_002530.3	NP_001230030.1|NP_002521.2	Q16288	NTRK3_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.211)		18	2609	-			777			Protein kinase.		B7Z4C5|E9PG56|H0YND1|O75682|Q12827|Q16289	Missense_Mutation	SNP	ENST00000360948.2	37	c.2288C>T	CCDS32322.1	.	.	.	.	.	.	.	.	.	.	G	18.27	3.588030	0.66105	.	.	ENSG00000140538	ENST00000394480;ENST00000360948;ENST00000357724;ENST00000355254	D;D;D;D	0.82984	-1.67;-1.67;-1.67;-1.67	5.34	4.42	0.53409	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.108651	0.64402	N	0.000007	T	0.74658	0.3745	N	0.05414	-0.055	0.80722	D	1	P;D;P	0.64830	0.761;0.994;0.761	B;P;B	0.51415	0.403;0.669;0.403	T	0.77310	-0.2635	10	0.46703	T	0.11	.	12.3564	0.55178	0.0822:0.0:0.9178:0.0	.	755;763;777	B7Z4C5;Q16288-3;Q16288	.;.;NTRK3_HUMAN	M	763;777;769;763	ENSP00000377990:T763M;ENSP00000354207:T777M;ENSP00000350356:T769M;ENSP00000347397:T763M	ENSP00000347397:T763M	T	-	2	0	NTRK3	86224509	1.000000	0.71417	0.996000	0.52242	0.919000	0.55068	4.516000	0.60496	1.236000	0.43740	0.655000	0.94253	ACG		0.502	NTRK3-204	KNOWN	basic|CCDS	protein_coding	protein_coding				12	67	0	0	0	1	0	12	67					A	88423505	G	A	88423505	3	1	286	1	0	0	0	0	1	0	0	0	10708	1145	40	1	197	1	NTRK3	15	88423505	Missense_Mutation	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	13376124	88423505	14107887	485	13615											
MFGE8	4240	broad.mit.edu	37	chr15	89453092	89453092	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgaggggaagacatctcctcGcacttcttgggaaatctcct	9	10	10	12	2	3	1	0	0	3	1	6	4	3	3	2	3	0	1	2	3	2	2	rs141213799	byFrequency	TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr15:89453092G>A	ENST00000566497.1	-	2	197	c.136C>T	c.(136-138)Cga>Tga	p.R46*	MFGE8_ENST00000559997.1_Intron|MFGE8_ENST00000542878.1_Intron|MFGE8_ENST00000268151.7_Nonsense_Mutation_p.R46*|MFGE8_ENST00000539437.1_Nonsense_Mutation_p.R38*|MFGE8_ENST00000268150.8_Nonsense_Mutation_p.R46*			Q08431	MFGM_HUMAN	milk fat globule-EGF factor 8 protein	46	EGF-like. {ECO:0000255|PROSITE- ProRule:PRU00076}.				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|phagocytosis, engulfment (GO:0006911)|phagocytosis, recognition (GO:0006910)|positive regulation of apoptotic cell clearance (GO:2000427)|single fertilization (GO:0007338)|viral process (GO:0016032)	external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of plasma membrane (GO:0019897)|membrane (GO:0016020)|vesicle (GO:0031982)	phosphatidylethanolamine binding (GO:0008429)|phosphatidylserine binding (GO:0001786)			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	22	Lung NSC(78;0.0392)|all_lung(78;0.077)					ACATCTCCTCGCACTTCTTGG	0.532													G|||	2	0.000399361	8e-04	0	5008	,	,		22593	0		0	False		,,,				2504	0.001					ENST00000539437.1																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	22						c.(112-114)Cga>Tga		milk fat globule-EGF factor 8 protein							178	148	158					15																	89453092		2200	4299	6499	SO:0001587	stop_gained	4240				angiogenesis|cell adhesion|interspecies interaction between organisms|single fertilization			g.chr15:89453092G>A	U58516	CCDS10347.1, CCDS45345.1	15q25	2009-03-25			ENSG00000140545	ENSG00000140545			7036	protein-coding gene	gene with protein product	"sperm surface protein hP47"	602281	"sperm associated antigen 10"	SPAG10		9027496, 19204935	Standard	NM_005928		Approved	SED1, EDIL1, BA46, OAcGD3S, HsT19888, MFG-E8, hP47	uc002bng.4	Q08431	OTTHUMG00000148682	ENST00000566497.1:c.136C>T	15.37:g.89453092G>A	ENSP00000456281:p.Arg46*					MFGE8_ENST00000542878.1_Intron|MFGE8_ENST00000559997.1_Intron|MFGE8_ENST00000268151.7_Nonsense_Mutation_p.R46*|MFGE8_ENST00000566497.1_Nonsense_Mutation_p.R46*|MFGE8_ENST00000268150.8_Nonsense_Mutation_p.R46*	p.R38*			Q08431	MFGM_HUMAN			3	248	-	Lung NSC(78;0.0392)|all_lung(78;0.077)		46			EGF-like.		B2R6M7|Q53FU9|Q7Z3D2|Q9BTL9	Nonsense_Mutation	SNP	ENST00000566497.1	37	c.112C>T	CCDS10347.1	.	.	.	.	.	.	.	.	.	.	G	19.43	3.826639	0.71143	.	.	ENSG00000140545	ENST00000268150;ENST00000268151;ENST00000539437	.	.	.	5.39	3.39	0.38822	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.38643	T	0.18	-13.039	13.0212	0.58789	0.0:0.0:0.6053:0.3946	.	.	.	.	X	46;46;38	.	ENSP00000268150:R46X	R	-	1	2	MFGE8	87254096	0.990000	0.36364	0.303000	0.25071	0.015000	0.08874	2.082000	0.41605	1.403000	0.46800	0.561000	0.74099	CGA		0.532	MFGE8-015	NOVEL	alternative_3_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000432804.1	NM_005928		15	104	0	0	0	1	0	15	104					A	89453092	G	A	89453092	4	1	286	1	0	0	0	0	0	1	0	0	9520	1095	38	1	1055	1	MFGE8	15	89453092	Nonsense_Mutation	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	1029587	89453092	13078300	486	13616											
RLBP1	6017	broad.mit.edu	37	chr15	89760443	89760443	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttctcttgcaccctctccGccacggccaccgccagctcc	4	8	6	23	3	2	0	0	0	2	0	5	0	3	0	8	1	2	2	8	1	0	2			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr15:89760443G>A	ENST00000268125.5	-	5	693	c.254C>T	c.(253-255)gCg>gTg	p.A85V		NM_000326.4	NP_000317.1	P12271	RLBP1_HUMAN	retinaldehyde binding protein 1	85					phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|visual perception (GO:0007601)|vitamin A metabolic process (GO:0006776)	cell body (GO:0044297)|cytosol (GO:0005829)	11-cis retinal binding (GO:0005502)|retinol binding (GO:0019841)|transporter activity (GO:0005215)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(1)|prostate(1)|skin(1)	18	Lung NSC(78;0.0472)|all_lung(78;0.089)				Vitamin A(DB00162)	CACCCTCTCCGCCACGGCCAC	0.667																																						ENST00000268125.5																			0				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(1)|prostate(1)|skin(1)	18						c.(253-255)gCg>gTg		retinaldehyde binding protein 1	Vitamin A(DB00162)						56	56	56					15																	89760443		2200	4299	6499	SO:0001583	missense	6017				response to stimulus|visual perception|vitamin A metabolic process	cytoplasm|soluble fraction	retinol binding|transporter activity	g.chr15:89760443G>A	BC004199	CCDS32324.1	15q26.1	2007-07-16	2001-11-28			ENSG00000140522			10024	protein-coding gene	gene with protein product		180090	"retinaldehyde-binding protein 1"			1733864, 9326942	Standard	NM_000326		Approved	CRALBP	uc002bnl.3	P12271		ENST00000268125.5:c.254C>T	15.37:g.89760443G>A	ENSP00000268125:p.Ala85Val						p.A85V	NM_000326.4	NP_000317.1	P12271	RLBP1_HUMAN			5	693	-	Lung NSC(78;0.0472)|all_lung(78;0.089)		85					B2R667	Missense_Mutation	SNP	ENST00000268125.5	37	c.254C>T	CCDS32324.1	.	.	.	.	.	.	.	.	.	.	G	13.85	2.360675	0.41801	.	.	ENSG00000140522	ENST00000268125	D	0.87729	-2.29	5.03	5.03	0.67393	Phosphatidylinositol transfer protein-like, N-terminal (1);Cellular retinaldehyde-binding/triple function, N-terminal (1);	0.237219	0.43260	D	0.000584	T	0.80232	0.4585	L	0.47716	1.5	0.48511	D	0.999666	P	0.42456	0.78	B	0.33454	0.164	T	0.79701	-0.1693	10	0.30854	T	0.27	-10.3839	12.7701	0.57415	0.0791:0.0:0.9208:0.0	.	85	P12271	RLBP1_HUMAN	V	85	ENSP00000268125:A85V	ENSP00000268125:A85V	A	-	2	0	RLBP1	87561447	1.000000	0.71417	0.999000	0.59377	0.318000	0.28184	4.754000	0.62191	2.341000	0.79615	0.561000	0.74099	GCG		0.667	RLBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421135.1	NM_000326		9	53	0	0	0	1	0	9	53					A	89760443	G	A	89760443	3	1	286	1	0	0	0	0	1	0	0	0	13388	1087	38	1	719	1	RLBP1	15	89760443	Missense_Mutation	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	307351	89760443	12770949	487	13617											
FES	2242	broad.mit.edu	37	chr15	91433508	91433508	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgccactccacgtcgtcctcGgtgagctgccccatccgcgg	4	7	11	19	6	0	1	0	1	0	0	5	1	3	1	6	2	2	1	6	2	0	0			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr15:91433508G>A	ENST00000328850.3	+	9	1378	c.1236G>A	c.(1234-1236)tcG>tcA	p.S412S	FES_ENST00000394302.1_Splice_Site_p.S354S|FES_ENST00000450438.2_Splice_Site_p.S354S|FES_ENST00000394300.3_Splice_Site_p.S354S|FES_ENST00000448367.1_3'UTR|FES_ENST00000444422.2_Splice_Site_p.S412S|FES_ENST00000414248.2_Splice_Site_p.S354S	NM_002005.3	NP_001996.1	P07332	FES_HUMAN	FES proto-oncogene, tyrosine kinase	412					axon guidance (GO:0007411)|cell proliferation (GO:0008283)|multicellular organismal development (GO:0007275)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of myeloid cell differentiation (GO:0045639)|positive regulation of neuron projection development (GO:0010976)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of cell adhesion (GO:0030155)|regulation of cell differentiation (GO:0045595)|regulation of cell motility (GO:2000145)|regulation of cell proliferation (GO:0042127)|regulation of cell shape (GO:0008360)|regulation of mast cell degranulation (GO:0043304)|regulation of vesicle-mediated transport (GO:0060627)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|microtubule cytoskeleton (GO:0015630)	ATP binding (GO:0005524)|immunoglobulin receptor binding (GO:0034987)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|phosphatidylinositol binding (GO:0035091)|protein tyrosine kinase activity (GO:0004713)			lung(2)|ovary(1)	3	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.229)			CGTCGTCCTCGGTGAGCTGCC	0.726																																						ENST00000328850.3																			0				lung(2)|ovary(1)	3						c.e9+1		feline sarcoma oncogene							11	15	14					15																	91433508		2180	4255	6435	SO:0001630	splice_region_variant	2242				axon guidance|cell proliferation|peptidyl-tyrosine phosphorylation	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding	g.chr15:91433508G>A	X52192	CCDS10365.1, CCDS45349.1, CCDS45350.1, CCDS45351.1	15q26.1	2014-06-26	2014-06-26		ENSG00000182511	ENSG00000182511	2.7.10.1	"SH2 domain containing"	3657	protein-coding gene	gene with protein product	"Oncogene FES, feline sarcoma virus", "c-fes/fps protein"	190030	"feline sarcoma (Snyder-Theilen) viral (v-fes)/Fujinami avian sarcoma (PRCII) viral (v-fps) oncogene homolog", "feline sarcoma oncogene"			1870997	Standard	NM_002005		Approved	FPS	uc002bpv.3	P07332	OTTHUMG00000044456	ENST00000328850.3:c.1236+1G>A	15.37:g.91433508G>A						FES_ENST00000414248.2_Splice_Site_p.S354_splice|FES_ENST00000450438.2_Splice_Site_p.S354_splice|FES_ENST00000394300.3_Splice_Site_p.S354_splice|FES_ENST00000448367.1_3'UTR|FES_ENST00000444422.2_Splice_Site_p.S412_splice|FES_ENST00000394302.1_Splice_Site_p.S354_splice	p.S412_splice	NM_002005.3	NP_001996.1	P07332	FES_HUMAN	Lung(145;0.229)		9	1378	+	Lung NSC(78;0.0771)|all_lung(78;0.137)		412					B2R6E6|B4DUD0|E9PC94|E9PC95|Q2VXS7|Q2VXS8|Q2VXT0|Q6GTU5	Splice_Site	SNP	ENST00000328850.3	37	c.1236_splice	CCDS10365.1																																																																																				0.726	FES-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313497.1	NM_002005	Silent	4	22	0	0	0	1	0	4	22					A	91433508	G	A	91433508	5	1	286	1	0	0	0	0	0	0	1	0	5820	1130	39	2	1266	2	FES	15	91433508	Splice_Site	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	1673065	91433508	11097884	488	13618											
SV2B	9899	broad.mit.edu	37	chr15	91769602	91769602	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atgcacagagtgatgtcaccGaaggccatgatgaggaagac	14	6	13	8	1	1	5	1	3	0	2	1	7	1	6	2	2	1	1	2	2	2	0			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr15:91769602G>A	ENST00000394232.1	+	2	579	c.109G>A	c.(109-111)Gaa>Aaa	p.E37K	SV2B_ENST00000557291.1_Intron|SV2B_ENST00000545111.2_Intron|SV2B_ENST00000330276.4_Missense_Mutation_p.E37K	NM_014848.4	NP_055663.1	Q7L1I2	SV2B_HUMAN	synaptic vesicle glycoprotein 2B	37					neurotransmitter transport (GO:0006836)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|synaptic vesicle (GO:0008021)	transmembrane transporter activity (GO:0022857)			NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(17)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	42	Lung NSC(78;0.0987)|all_lung(78;0.172)		BRCA - Breast invasive adenocarcinoma(143;0.0895)			TGATGTCACCGAAGGCCATGA	0.537																																						ENST00000394232.1																			0				NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(17)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	42						c.(109-111)Gaa>Aaa		synaptic vesicle glycoprotein 2B							142	116	125					15																	91769602		2198	4298	6496	SO:0001583	missense	9899				neurotransmitter transport	acrosomal vesicle|cell junction|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity	g.chr15:91769602G>A	AB018278	CCDS10370.1, CCDS53972.1	15q26.1	2005-01-10			ENSG00000185518	ENSG00000185518			16874	protein-coding gene	gene with protein product		185861				9872452, 7681585	Standard	NM_014848		Approved	KIAA0735, HsT19680	uc002bqv.3	Q7L1I2	OTTHUMG00000149833	ENST00000394232.1:c.109G>A	15.37:g.91769602G>A	ENSP00000377779:p.Glu37Lys					SV2B_ENST00000557291.1_Intron|SV2B_ENST00000330276.4_Missense_Mutation_p.E37K|SV2B_ENST00000545111.2_Intron	p.E37K	NM_014848.4	NP_055663.1	Q7L1I2	SV2B_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0895)		2	579	+	Lung NSC(78;0.0987)|all_lung(78;0.172)		37					B4DH30|C6G489|O94840|Q6IAR8	Missense_Mutation	SNP	ENST00000394232.1	37	c.109G>A	CCDS10370.1	.	.	.	.	.	.	.	.	.	.	G	32	5.106752	0.94292	.	.	ENSG00000185518	ENST00000394232;ENST00000330276	T;T	0.34667	1.35;1.35	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	T	0.61009	0.2313	M	0.71206	2.165	0.80722	D	1	D	0.89917	1.0	D	0.70716	0.97	T	0.62497	-0.6842	10	0.72032	D	0.01	-22.8182	18.4162	0.90571	0.0:0.0:1.0:0.0	.	37	Q7L1I2	SV2B_HUMAN	K	37	ENSP00000377779:E37K;ENSP00000332818:E37K	ENSP00000332818:E37K	E	+	1	0	SV2B	89570606	1.000000	0.71417	0.986000	0.45419	0.717000	0.41224	9.594000	0.98254	2.703000	0.92315	0.563000	0.77884	GAA		0.537	SV2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313494.3	NM_014848		12	58	0	0	0	1	0	12	58					A	91769602	G	A	91769602	3	1	286	1	0	0	0	0	1	0	0	0	15415	1059	37	2	111	2	SV2B	15	91769602	Missense_Mutation	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	336094	91769602	10761790	489	13619											
RGMA	56963	broad.mit.edu	37	chr15	93595350	93595350	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctggaagcggtcggtgaaaGtcctgaggtgtgggtccccg	6	9	17	9	3	1	2	0	2	1	0	4	3	3	3	3	5	1	0	3	5	2	0			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr15:93595350G>A	ENST00000329082.7	-	3	789	c.518C>T	c.(517-519)aCt>aTt	p.T173I	RGMA_ENST00000542321.2_Missense_Mutation_p.T157I|RGMA_ENST00000557301.1_Missense_Mutation_p.T181I|RGMA_ENST00000425933.2_Missense_Mutation_p.T157I|RGMA_ENST00000555584.1_5'Flank|RGMA_ENST00000557420.1_Intron|RGMA_ENST00000556658.1_Missense_Mutation_p.T64I|RGMA_ENST00000543599.1_Missense_Mutation_p.T157I|RGMA_ENST00000538818.1_Missense_Mutation_p.T64I|RGMA_ENST00000556087.1_Missense_Mutation_p.T157I	NM_020211.2	NP_064596	Q96B86	RGMA_HUMAN	repulsive guidance molecule family member a	173					axon guidance (GO:0007411)|BMP signaling pathway (GO:0030509)|neural tube closure (GO:0001843)|regulation of BMP signaling pathway (GO:0030510)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	coreceptor activity (GO:0015026)			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)	9	Lung NSC(78;0.0542)|all_lung(78;0.0786)		BRCA - Breast invasive adenocarcinoma(143;0.0312)|OV - Ovarian serous cystadenocarcinoma(32;0.108)			GTCGGTGAAAGTCCTGAGGTG	0.602																																						ENST00000329082.7																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)	9						c.(517-519)aCt>aTt		repulsive guidance molecule family member a							54	66	62					15																	93595350		2127	4222	6349	SO:0001583	missense	56963				axon guidance	anchored to membrane|endoplasmic reticulum|plasma membrane		g.chr15:93595350G>A	AL390083	CCDS45357.1, CCDS53973.1, CCDS53974.1	15q26.1	2013-11-06	2013-11-06			ENSG00000182175			30308	protein-coding gene	gene with protein product		607362	"RGM domain family, member A"			15975920	Standard	NM_020211		Approved	RGM, RGMa	uc010urc.2	Q96B86		ENST00000329082.7:c.518C>T	15.37:g.93595350G>A	ENSP00000330005:p.Thr173Ile					RGMA_ENST00000425933.2_Missense_Mutation_p.T157I|RGMA_ENST00000543599.1_Missense_Mutation_p.T157I|RGMA_ENST00000556087.1_Missense_Mutation_p.T157I|RGMA_ENST00000542321.2_Missense_Mutation_p.T157I|RGMA_ENST00000557420.1_Intron|RGMA_ENST00000557301.1_Missense_Mutation_p.T181I|RGMA_ENST00000538818.1_Missense_Mutation_p.T64I|RGMA_ENST00000556658.1_Missense_Mutation_p.T64I	p.T173I	NM_020211.2	NP_064596.2	Q96B86	RGMA_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0312)|OV - Ovarian serous cystadenocarcinoma(32;0.108)		3	789	-	Lung NSC(78;0.0542)|all_lung(78;0.0786)		173					B2RTW1|B7Z5S8|F5GXQ7|F5GZU6|G3V518|Q0JV97|Q8NC80|Q9H0E6|Q9NPM3	Missense_Mutation	SNP	ENST00000329082.7	37	c.518C>T	CCDS45357.1	.	.	.	.	.	.	.	.	.	.	G	28.0	4.884935	0.91814	.	.	ENSG00000182175	ENST00000543599;ENST00000425933;ENST00000329082;ENST00000542321;ENST00000538818;ENST00000557301	D;D;D;D;D;D	0.97941	-4.62;-4.62;-4.62;-4.62;-4.62;-4.62	5.28	5.28	0.74379	Repulsive guidance molecule, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.98713	0.9568	M	0.81802	2.56	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	D	0.99856	1.1077	10	0.87932	D	0	-4.7361	18.491	0.90848	0.0:0.0:1.0:0.0	.	181;173	G3V518;Q96B86	.;RGMA_HUMAN	I	157;157;173;157;64;181	ENSP00000442498:T157I;ENSP00000404442:T157I;ENSP00000330005:T173I;ENSP00000440025:T157I;ENSP00000442546:T64I;ENSP00000452126:T181I	ENSP00000330005:T173I	T	-	2	0	RGMA	91396354	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.815000	0.99349	2.479000	0.83701	0.561000	0.74099	ACT		0.602	RGMA-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000415091.1	NM_020211		4	22	0	0	0	1	0	4	22					A	93595350	G	A	93595350	3	1	286	1	0	0	0	0	1	0	0	0	13280	1029	36	3	842	3	RGMA	15	93595350	Missense_Mutation	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	1825748	93595350	8936042	490	13620											
LRRK1	79705	broad.mit.edu	37	chr15	101528929	101528929	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtgaagctcctggtcctgaCgcacggggctgacccggaga	7	7	15	12	3	0	4	0	3	0	1	2	5	2	4	3	4	1	3	3	4	1	0	rs202112893	byFrequency	TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr15:101528929C>T	ENST00000388948.3	+	5	883	c.524C>T	c.(523-525)aCg>aTg	p.T175M	LRRK1_ENST00000284395.5_Missense_Mutation_p.T172M|LRRK1_ENST00000532029.2_Missense_Mutation_p.T175M	NM_024652.3	NP_078928.3			leucine-rich repeat kinase 1									p.T148M(2)|p.T175M(1)		breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			CTGGTCCTGACGCACGGGGCT	0.632													C|||	5	0.000998403	0	0.0014	5008	,	,		18218	0.001		0	False		,,,				2504	0.0031					ENST00000284395.5																			3	Substitution - Missense(3)	p.T148M(2)|p.T175M(1)	large_intestine(2)|central_nervous_system(1)	breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72						c.(514-516)aCg>aTg		leucine-rich repeat kinase 1		C	MET/THR	3,4077		0,3,2037	61	66	65		524	4.6	0.8	15		65	0,8350		0,0,4175	yes	missense	LRRK1	NM_024652.3	81	0,3,6212	TT,TC,CC		0.0,0.0735,0.0241	possibly-damaging	175/2016	101528929	3,12427	2040	4175	6215	SO:0001583	missense	79705				small GTPase mediated signal transduction	mitochondrion	ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr15:101528929C>T	AB058693	CCDS42086.1	15q26.3	2007-01-29			ENSG00000154237	ENSG00000154237			18608	protein-coding gene	gene with protein product		610986				11347906, 14654223	Standard	XM_005254979		Approved	FLJ23119, KIAA1790, Roco1, RIPK6	uc002bwr.3	Q38SD2	OTTHUMG00000165514	ENST00000388948.3:c.524C>T	15.37:g.101528929C>T	ENSP00000373600:p.Thr175Met					LRRK1_ENST00000388948.3_Missense_Mutation_p.T175M|LRRK1_ENST00000532029.2_Missense_Mutation_p.T175M	p.T172M			Q38SD2	LRRK1_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)		6	915	+	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		175						Missense_Mutation	SNP	ENST00000388948.3	37	c.515C>T	CCDS42086.1	.	.	.	.	.	.	.	.	.	.	C	15.27	2.783124	0.49891	7.35E-4	0.0	ENSG00000154237	ENST00000388948;ENST00000284395;ENST00000532029	T;T;T	0.65732	-0.17;0.61;-0.17	5.5	4.56	0.56223	Ankyrin repeat-containing domain (4);	0.227982	0.34853	N	0.003634	T	0.66458	0.2791	L	0.31578	0.945	0.25143	N	0.990487	D;D	0.89917	0.995;1.0	P;D	0.63703	0.778;0.917	T	0.61008	-0.7149	10	0.48119	T	0.1	.	13.8269	0.63357	0.0:0.7077:0.2923:0.0	.	175;175	Q38SD2;Q38SD2-2	LRRK1_HUMAN;.	M	175;172;175	ENSP00000373600:T175M;ENSP00000284395:T172M;ENSP00000433268:T175M	ENSP00000284395:T172M	T	+	2	0	LRRK1	99346452	0.962000	0.33011	0.848000	0.33437	0.409000	0.31022	2.165000	0.42396	1.288000	0.44600	0.650000	0.86243	ACG		0.632	LRRK1-003	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384567.2	NM_024652		15	67	0	0	0	1	0	15	67					T	101528929	C	T	101528929	3	4	286	1	0	0	0	0	1	0	0	0	9032	536	19	1	538	1	LRRK1	15	101528929	Missense_Mutation	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	7933579	101528929	1002463	491	13621											
RHBDF1	64285	broad.mit.edu	37	chr16	108437	108437	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcacagcggacaggatagaCgtagaagaggaccaccaggc	14	3	13	11	2	1	3	1	0	0	3	1	6	1	6	2	4	1	1	2	4	3	2	rs369772748		TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr16:108437C>T	ENST00000262316.6	-	18	2612	c.2470G>A	c.(2470-2472)Gtc>Atc	p.V824I		NM_022450.3	NP_071895.3	Q96CC6	RHDF1_HUMAN	rhomboid 5 homolog 1 (Drosophila)	824					cell migration (GO:0016477)|cell proliferation (GO:0008283)|negative regulation of protein secretion (GO:0050709)|protein transport (GO:0015031)|proteolysis (GO:0006508)|regulation of epidermal growth factor receptor signaling pathway (GO:0042058)|regulation of proteasomal protein catabolic process (GO:0061136)|regulation of protein secretion (GO:0050708)	endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	18		all_cancers(16;2.56e-05)|all_epithelial(16;0.000116)|Hepatocellular(780;0.0068)|Lung NSC(18;0.0795)|all_lung(18;0.159)				ACAGGATAGACGTAGAAGAGG	0.557																																						ENST00000262316.6																			0				breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	18						c.(2470-2472)Gtc>Atc		rhomboid 5 homolog 1 (Drosophila)							150	154	153					16																	108437		2203	4300	6503	SO:0001583	missense	64285				cell migration|cell proliferation|negative regulation of protein secretion|protein transport|proteolysis|regulation of epidermal growth factor receptor signaling pathway|regulation of proteasomal protein catabolic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane	growth factor binding|serine-type endopeptidase activity	g.chr16:108437C>T	BC014425	CCDS32344.1	16p13.3	2008-02-05	2006-02-22		ENSG00000007384	ENSG00000007384			20561	protein-coding gene	gene with protein product		614403	"chromosome 16 open reading frame 8", "rhomboid family 1 (Drosophila)"	C16orf8		8318735, 15965977	Standard	NM_022450		Approved	EGFR-RS, FLJ2235, Dist1	uc002cfl.4	Q96CC6	OTTHUMG00000060719	ENST00000262316.6:c.2470G>A	16.37:g.108437C>T	ENSP00000262316:p.Val824Ile						p.V824I	NM_022450.3	NP_071895.3	Q96CC6	RHDF1_HUMAN			18	2612	-		all_cancers(16;2.56e-05)|all_epithelial(16;0.000116)|Hepatocellular(780;0.0068)|Lung NSC(18;0.0795)|all_lung(18;0.159)	824					Q04842|Q1W6H2|Q4TT59|Q96S34|Q9H6E1	Missense_Mutation	SNP	ENST00000262316.6	37	c.2470G>A	CCDS32344.1	.	.	.	.	.	.	.	.	.	.	.	5.270	0.235166	0.09969	.	.	ENSG00000007384	ENST00000262316	T	0.51071	0.72	5.06	-2.0	0.07433	.	0.311639	0.35805	N	0.002966	T	0.33789	0.0875	L	0.43701	1.375	0.80722	D	1	B	0.06786	0.001	B	0.04013	0.001	T	0.48043	-0.9069	10	0.02654	T	1	-7.1159	17.5991	0.88021	0.287:0.713:0.0:0.0	.	824	Q96CC6	RHDF1_HUMAN	I	824	ENSP00000262316:V824I	ENSP00000262316:V824I	V	-	1	0	RHBDF1	48437	0.986000	0.35501	0.984000	0.44739	0.948000	0.59901	0.507000	0.22675	-0.621000	0.05633	-1.856000	0.00563	GTC		0.557	RHBDF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000134178.2	NM_022450		19	134	0	0	0	1	0	19	134					T	108437	C	T	108437	3	4	286	1	0	0	0	0	1	0	0	0	13319	536	19	1	101	1	RHBDF1	16	108437	Missense_Mutation	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08		108437	90246316	492	13622											
SOLH	6650	broad.mit.edu	37	chr16	602413	602413	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcctcctggcccacagtaagCgcgcggtcaagaagttcgtc	8	7	12	14	4	1	1	1	0	0	1	4	1	2	1	3	2	1	2	3	2	3	2			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr16:602413C>T	ENST00000219611.2	+	11	2983	c.2620C>T	c.(2620-2622)Cgc>Tgc	p.R874C	LA16c-366D1.3_ENST00000565879.1_RNA	NM_005632.2	NP_005623.1	O75808	CAN15_HUMAN	calpain 15	874					proteolysis (GO:0006508)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)	calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|cysteine-type peptidase activity (GO:0008234)|peptidase activity (GO:0008233)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)										CCACAGTAAGCGCGCGGTCAA	0.692																																						ENST00000219611.2																			0											c.(2620-2622)Cgc>Tgc		calpain 15							16	21	20					16																	602413		2156	4261	6417	SO:0001583	missense	6650							g.chr16:602413C>T	U85647	CCDS10410.1	16p13.3	2013-06-27	2013-06-27	2013-06-27	ENSG00000103326	ENSG00000103326			11182	protein-coding gene	gene with protein product		603267	"small optic lobes (Drosophila) homolog", "small optic lobes homolog (Drosophila)"	SOLH		9722942	Standard	NM_005632		Approved		uc002chi.3	O75808	OTTHUMG00000119059	ENST00000219611.2:c.2620C>T	16.37:g.602413C>T	ENSP00000219611:p.Arg874Cys					LA16c-366D1.3_ENST00000565879.1_RNA	p.R874C	NM_005632.2	NP_005623.1					11	2983	+								B1B1M4|Q2KHS2|Q8WTY9|Q9BUW0	Missense_Mutation	SNP	ENST00000219611.2	37	c.2620C>T	CCDS10410.1	.	.	.	.	.	.	.	.	.	.	c	14.93	2.681774	0.47991	.	.	ENSG00000103326	ENST00000219611	D	0.90844	-2.74	5.48	3.38	0.38709	.	0.000000	0.85682	D	0.000000	D	0.93575	0.7949	M	0.73217	2.22	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.92968	0.6395	10	0.62326	D	0.03	.	8.9798	0.35957	0.2962:0.5601:0.1437:0.0	.	874	O75808	CAN15_HUMAN	C	874	ENSP00000219611:R874C	ENSP00000219611:R874C	R	+	1	0	SOLH	542414	1.000000	0.71417	0.966000	0.40874	0.549000	0.35272	1.687000	0.37680	1.294000	0.44707	0.556000	0.70494	CGC		0.692	CAPN15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239271.1	NM_005632		4	29	0	0	0	1	0	4	29					T	602413	C	T	602413	3	4	286	1	0	0	0	0	1	0	0	0	14925	768	27	1	2650	1	SOLH	16	602413	Missense_Mutation	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	493976	602413	89752340	493	13623											
PIGQ	9091	broad.mit.edu	37	chr16	630925	630925	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggacctcatcaactccctgcCgctgtactcactgggtcttc	6	11	8	16	1	4	0	3	0	1	0	6	1	5	1	3	2	3	2	3	2	2	2			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr16:630925C>T	ENST00000026218.5	+	9	1572	c.1484C>T	c.(1483-1485)cCg>cTg	p.P495L	PIGQ_ENST00000409527.2_Missense_Mutation_p.P495L|PIGQ_ENST00000321878.5_Missense_Mutation_p.P495L	NM_148920.2	NP_683721.1	Q9BRB3	PIGQ_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class Q	495	Leu-rich.				C-terminal protein lipidation (GO:0006501)|carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)	endoplasmic reticulum membrane (GO:0005789)|glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex (GO:0000506)|integral component of membrane (GO:0016021)	phosphatidylinositol N-acetylglucosaminyltransferase activity (GO:0017176)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	13		Hepatocellular(780;0.00335)				AACTCCCTGCCGCTGTACTCA	0.657																																						ENST00000321878.5																			0				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	13						c.(1483-1485)cCg>cTg		phosphatidylinositol glycan anchor biosynthesis, class Q							136	128	131					16																	630925		2201	4300	6501	SO:0001583	missense	9091				C-terminal protein lipidation|carbohydrate metabolic process|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	phosphatidylinositol N-acetylglucosaminyltransferase activity	g.chr16:630925C>T	AB003723	CCDS10411.1, CCDS10412.1	16p13.3	2013-03-28	2006-06-28		ENSG00000007541	ENSG00000007541		"Phosphatidylinositol glycan anchor biosynthesis"	14135	protein-coding gene	gene with protein product		605754	"phosphatidylinositol glycan, class Q"			9463366, 9729469	Standard	NM_004204		Approved	hGPI1, GPI1	uc002cho.3	Q9BRB3	OTTHUMG00000168047	ENST00000026218.5:c.1484C>T	16.37:g.630925C>T	ENSP00000026218:p.Pro495Leu					PIGQ_ENST00000409527.2_Missense_Mutation_p.P495L|PIGQ_ENST00000026218.5_Missense_Mutation_p.P495L	p.P495L	NM_004204.3	NP_004195.2	Q9BRB3	PIGQ_HUMAN			9	1643	+		Hepatocellular(780;0.00335)	495			Leu-rich.		A2IDE1|D3DU52|O14927|Q96G00|Q96S22|Q9UJH4	Missense_Mutation	SNP	ENST00000026218.5	37	c.1484C>T	CCDS10411.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.098648	0.76870	.	.	ENSG00000007541	ENST00000409527;ENST00000321878;ENST00000026218;ENST00000540241	T;T;T	0.80824	-1.42;-1.42;-0.99	5.22	5.22	0.72569	.	0.000000	0.85682	D	0.000000	D	0.84817	0.5556	L	0.32530	0.975	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;0.998;1.0	D	0.86615	0.1875	10	0.87932	D	0	-39.212	15.9255	0.79611	0.0:1.0:0.0:0.0	.	509;495;495	E7ERP4;Q9BRB3;Q9BRB3-2	.;PIGQ_HUMAN;.	L	495;495;495;53	ENSP00000386760:P495L;ENSP00000326674:P495L;ENSP00000026218:P495L	ENSP00000026218:P495L	P	+	2	0	PIGQ	570926	1.000000	0.71417	0.945000	0.38365	0.793000	0.44817	7.757000	0.85209	2.443000	0.82685	0.511000	0.50034	CCG		0.657	PIGQ-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000239270.2	NM_004204		28	148	0	0	0	1	0	28	148					T	630925	C	T	630925	3	4	286	1	0	0	0	0	1	0	0	0	11896	652	23	2	1514	2	PIGQ	16	630925	Missense_Mutation	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	28512	630925	89723828	494	13624											
CCDC78	124093	broad.mit.edu	37	chr16	775122	775122	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cgggcctcctgatgctccagCgcccacttcacttccccctg	4	9	8	20	2	1	1	1	1	0	0	4	1	4	1	6	1	2	1	6	1	0	2			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr16:775122C>T	ENST00000293889.6	-	6	621	c.516G>A	c.(514-516)gcG>gcA	p.A172A	HAGHL_ENST00000549114.1_5'Flank|HAGHL_ENST00000564537.1_5'Flank|HAGHL_ENST00000341413.4_5'Flank|HAGHL_ENST00000561546.1_5'Flank|HAGHL_ENST00000389703.3_5'Flank|HAGHL_ENST00000564545.1_5'Flank	NM_001031737.2	NP_001026907.2	A2IDD5	CCD78_HUMAN	coiled-coil domain containing 78	172					cell projection organization (GO:0030030)|de novo centriole assembly (GO:0098535)|skeletal muscle contraction (GO:0003009)	centriole (GO:0005814)|deuterosome (GO:0098536)|perinuclear region of cytoplasm (GO:0048471)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|lung(2)|skin(3)	9		Hepatocellular(780;0.0218)				GATGCTCCAGCGCCCACTTCA	0.652																																						ENST00000293889.6																			0				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|lung(2)|skin(3)	9						c.(514-516)gcG>gcA		coiled-coil domain containing 78							53	57	56					16																	775122		2199	4295	6494	SO:0001819	synonymous_variant	124093							g.chr16:775122C>T	BC042110	CCDS32353.1	16p13.3	2014-07-15		2006-02-20	ENSG00000162004	ENSG00000162004			14153	protein-coding gene	gene with protein product		614666		C16orf25		24075808	Standard	NM_001031737		Approved	FLJ34512	uc002cjg.3	A2IDD5	OTTHUMG00000121176	ENST00000293889.6:c.516G>A	16.37:g.775122C>T							p.A172A	NM_001031737.2	NP_001026907.2	A2IDD5	CCD78_HUMAN			6	621	-		Hepatocellular(780;0.0218)	172					B4DNY4|B4E1U6|Q05BY7|Q05CA0|Q6T2V5|Q6ZR33|Q8IUR3|Q8NAY7|Q96S12	Silent	SNP	ENST00000293889.6	37	c.516G>A	CCDS32353.1	.	.	.	.	.	.	.	.	.	.	C	6.768	0.510672	0.12883	.	.	ENSG00000162004	ENST00000345165	.	.	.	4.17	-8.33	0.00992	.	.	.	.	.	T	0.15955	0.0384	.	.	.	0.09310	N	0.99999	.	.	.	.	.	.	T	0.19844	-1.0293	4	.	.	.	-0.0759	2.9442	0.05840	0.1165:0.1462:0.2196:0.5177	.	.	.	.	H	21	.	.	R	-	2	0	CCDC78	715123	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-5.488000	0.00118	-1.683000	0.01444	-1.036000	0.02392	CGC		0.652	CCDC78-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241665.3	NM_173476		14	75	0	0	0	1	0	14	75					T	775122	C	T	775122	2	4	286	1	0	0	0	0	0	0	0	1	2852	755	27	1		1	CCDC78	16	775122	Silent	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	144197	775122	89579631	495	13625											
PTX4	390667	broad.mit.edu	37	chr16	1536525	1536525	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acgaaaccagggctgaggaaGaccacgttcctggtggaggc	11	5	15	10	2	0	2	0	1	0	1	1	5	1	4	3	5	1	2	3	5	2	1			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr16:1536525G>A	ENST00000447419.2	-	3	877	c.852C>T	c.(850-852)gtC>gtT	p.V284V	PTX4_ENST00000440447.2_Missense_Mutation_p.S136F|PTX4_ENST00000293922.1_Silent_p.V279V			Q96A99	PTX4_HUMAN	pentraxin 4, long	284	Pentaxin.					extracellular region (GO:0005576)	metal ion binding (GO:0046872)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	17						GGCTGAGGAAGACCACGTTCC	0.662																																						ENST00000440447.2																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	17						c.(406-408)tCt>tTt		pentraxin 4, long							56	58	58					16																	1536525		2199	4300	6499	SO:0001819	synonymous_variant	390667					extracellular region	metal ion binding	g.chr16:1536525G>A		CCDS32362.1	16p13.3	2011-01-06	2010-03-30	2010-03-30	ENSG00000251692	ENSG00000251692			14171	protein-coding gene	gene with protein product		613442	"chromosome 16 open reading frame 38"	C16orf38			Standard	NM_001013658		Approved		uc010uvf.2	Q96A99		ENST00000447419.2:c.852C>T	16.37:g.1536525G>A						PTX4_ENST00000293922.1_Silent_p.V279V|PTX4_ENST00000447419.2_Silent_p.V284V	p.S136F			Q96A99	PTX4_HUMAN			3	478	-			0						Missense_Mutation	SNP	ENST00000447419.2	37	c.407C>T																																																																																					0.662	PTX4-001	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000432526.1	NM_001013658		11	48	0	0	0	1	0	11	48					A	1536525	G	A	1536525	2	1	286	1	0	0	0	0	0	0	0	1	12823	929	33	3		3	PTX4	16	1536525	Silent	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	761403	1536525	88818228	496	13626											
CRAMP1L	57585	broad.mit.edu	37	chr16	1716527	1716527	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tctctccactgtcttcagacGaggtgacgggtgccatctcg	6	11	11	13	3	4	2	1	1	3	1	7	3	5	2	2	2	1	0	2	2	0	1	rs372834355		TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr16:1716527G>A	ENST00000397412.3	+	16	3061	c.2962G>A	c.(2962-2964)Gag>Aag	p.E988K	LA16c-431H6.6_ENST00000454337.1_3'UTR|CRAMP1L_ENST00000262317.4_Missense_Mutation_p.E366K|CRAMP1L_ENST00000293925.5_Missense_Mutation_p.E988K|CRAMP1L_ENST00000436138.3_Missense_Mutation_p.E985K			Q96RY5	CRML_HUMAN	Crm, cramped-like (Drosophila)	988						nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(6)|pancreas(1)	22						GTCTTCAGACGAGGTGACGGG	0.582																																						ENST00000397412.3																			0				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(6)|pancreas(1)	22						c.(2962-2964)Gag>Aag		Crm, cramped-like (Drosophila)							65	67	66					16																	1716527		2023	4173	6196	SO:0001583	missense	57585					nucleus	DNA binding	g.chr16:1716527G>A	AB037847	CCDS10440.2	16p13.3	2008-07-30	2001-11-28		ENSG00000007545	ENSG00000007545			14122	protein-coding gene	gene with protein product			"Crm (Cramped Drosophila)-like"				Standard	NM_020825		Approved	KIAA1426	uc010uvh.2	Q96RY5	OTTHUMG00000074087	ENST00000397412.3:c.2962G>A	16.37:g.1716527G>A	ENSP00000380559:p.Glu988Lys					CRAMP1L_ENST00000293925.5_Missense_Mutation_p.E988K|CRAMP1L_ENST00000262317.4_Missense_Mutation_p.E366K|LA16c-431H6.6_ENST00000454337.1_3'UTR|CRAMP1L_ENST00000436138.3_Missense_Mutation_p.E985K	p.E988K			Q96RY5	CRML_HUMAN			16	3061	+			988					A8MZL1|B1AJY1|Q8NDN1|Q9P2C1	Missense_Mutation	SNP	ENST00000397412.3	37	c.2962G>A	CCDS10440.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.89|12.89	2.072107|2.072107	0.36566|0.36566	.|.	.|.	ENSG00000007545|ENSG00000007545	ENST00000397412;ENST00000293925;ENST00000436138;ENST00000262317|ENST00000415022	.|.	.|.	.|.	5.64|5.64	1.81|1.81	0.25067|0.25067	.|.	0.658903|.	0.16308|.	N|.	0.220136|.	T|T	0.22126|0.22126	0.0533|0.0533	L|L	0.27053|0.27053	0.805|0.805	0.09310|0.09310	N|N	1|1	B|.	0.11235|.	0.004|.	B|.	0.08055|.	0.003|.	T|T	0.22243|0.22243	-1.0222|-1.0222	9|5	0.07325|.	T|.	0.83|.	-10.2777|-10.2777	2.3704|2.3704	0.04329|0.04329	0.2766:0.1262:0.4755:0.1217|0.2766:0.1262:0.4755:0.1217	.|.	988|.	Q96RY5|.	CRML_HUMAN|.	K|Q	988;988;985;366|110	.|.	ENSP00000262317:E366K|.	E|R	+|+	1|2	0|0	CRAMP1L|CRAMP1L	1656528|1656528	0.001000|0.001000	0.12720|0.12720	0.000000|0.000000	0.03702|0.03702	0.135000|0.135000	0.20990|0.20990	0.026000|0.026000	0.13599|0.13599	0.173000|0.173000	0.19788|0.19788	0.555000|0.555000	0.69702|0.69702	GAG|CGA		0.582	CRAMP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157297.4			4	28	0	0	0	1	0	4	28					A	1716527	G	A	1716527	3	1	286	1	0	0	0	0	1	0	0	0	3846	1059	37	2	3020	2	CRAMP1L	16	1716527	Missense_Mutation	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	180002	1716527	88638226	497	13627											
EME2	197342	broad.mit.edu	37	chr16	1826215	1826215	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgaccacagccaaccctgaTctcctgctggacctgggctc	7	8	9	17	0	1	2	0	2	1	0	3	3	1	3	5	2	3	2	5	2	1	0			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr16:1826215T>A	ENST00000568449.1	+	8	1137	c.1116T>A	c.(1114-1116)gaT>gaA	p.D372E	EME2_ENST00000307394.7_Missense_Mutation_p.D437E	NM_001257370.1	NP_001244299.1	A4GXA9	EME2_HUMAN	essential meiotic structure-specific endonuclease subunit 2	372					DNA recombination (GO:0006310)|DNA repair (GO:0006281)	nucleus (GO:0005634)	DNA binding (GO:0003677)|endonuclease activity (GO:0004519)			central_nervous_system(1)|kidney(2)|lung(5)|pancreas(1)	9						CCAACCCTGATCTCCTGCTGG	0.692								Direct reversal of damage;Homologous recombination																														ENST00000307394.7																			0				central_nervous_system(1)|kidney(2)|lung(5)|pancreas(1)	9						c.(1309-1311)gaT>gaA	Direct reversal of damage;Homologous recombination	essential meiotic structure-specific endonuclease subunit 2							73	63	66					16																	1826215		2173	4250	6423	SO:0001583	missense	197342				DNA recombination|DNA repair	nucleus	DNA binding|endonuclease activity	g.chr16:1826215T>A	AK074080	CCDS58404.1	16p13.3	2013-07-03	2013-07-03			ENSG00000197774			27289	protein-coding gene	gene with protein product	"SLX2 structure-specific endonuclease subunit homolog B (S. cerevisiae)"	610886	"essential meiotic endonuclease 1 homolog 2 (S. pombe)"			12721304	Standard	NM_001257370		Approved	FLJ00151, SLX2B	uc010brw.1	A4GXA9		ENST00000568449.1:c.1116T>A	16.37:g.1826215T>A	ENSP00000457353:p.Asp372Glu					EME2_ENST00000568449.1_Missense_Mutation_p.D372E	p.D437E			A4GXA9	EME2_HUMAN			8	1311	+			372					Q8TEP2|Q96RY3	Missense_Mutation	SNP	ENST00000568449.1	37	c.1311T>A	CCDS58404.1	.	.	.	.	.	.	.	.	.	.	t	9.030	0.986949	0.18889	.	.	ENSG00000197774	ENST00000307394;ENST00000454910	.	.	.	3.49	-2.74	0.05932	.	0.137501	0.32473	N	0.006056	T	0.25195	0.0612	L	0.39467	1.215	0.27994	N	0.935558	B;B	0.24963	0.115;0.1	B;B	0.23574	0.039;0.047	T	0.06991	-1.0796	9	0.38643	T	0.18	-14.7596	4.5737	0.12223	0.0:0.391:0.172:0.4369	.	372;238	A4GXA9;A4GXA9-2	EME2_HUMAN;.	E	437;379	.	ENSP00000303779:D437E	D	+	3	2	EME2	1766216	0.003000	0.15002	0.262000	0.24481	0.086000	0.17979	-1.128000	0.03247	-0.679000	0.05217	-0.232000	0.12228	GAT		0.692	EME2-001	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000433185.2	NM_001010865		19	107	0	0	0	1	0	19	107					A	1826215	T	A	1826215	3	1	286	1	0	0	0	0	1	0	0	0	5089	1432	50	5	1341	5	EME2	16	1826215	Missense_Mutation	SNP	T	TCGA-J9-A52C-01A-11D-A26M-08	109688	1826215	88528538	498	13628											
NOXO1	124056	broad.mit.edu	37	chr16	2030958	2030958	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accttgagctgcctgaattcGtcccaactcctgcgcacgaa	9	9	8	15	3	0	2	0	2	0	0	3	3	2	2	4	0	4	2	4	0	3	2			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr16:2030958G>A	ENST00000397280.4	-	2	132	c.129C>T	c.(127-129)gaC>gaT	p.D43D	NOXO1_ENST00000566005.1_Silent_p.D43D|NOXO1_ENST00000356120.4_Silent_p.D43D|AC005606.1_ENST00000598236.1_5'Flank|NOXO1_ENST00000354249.4_Silent_p.D43D|TBL3_ENST00000568546.1_3'UTR			Q8NFA2	NOXO1_HUMAN	NADPH oxidase organizer 1	43	PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.				extracellular matrix disassembly (GO:0022617)|regulation of hydrogen peroxide metabolic process (GO:0010310)|regulation of respiratory burst (GO:0060263)|superoxide metabolic process (GO:0006801)	NADPH oxidase complex (GO:0043020)	enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|phosphatidylinositol binding (GO:0035091)|phospholipid binding (GO:0005543)|superoxide-generating NADPH oxidase activator activity (GO:0016176)			lung(2)	2					Ecabet(DB05265)	GCCTGAATTCGTCCCAACTCC	0.642																																					Pancreas(104;2811 2841 4129)|Esophageal Squamous(25;910 1225 43728)	ENST00000354249.4																			0				lung(2)	2						c.(127-129)gaC>gaT		NADPH oxidase organizer 1							39	39	39					16																	2030958		2197	4300	6497	SO:0001819	synonymous_variant	0				cell communication|regulation of hydrogen peroxide metabolic process|regulation of respiratory burst	NADPH oxidase complex	enzyme binding|phosphatidylinositol binding|superoxide-generating NADPH oxidase activator activity	g.chr16:2030958G>A	AF532985	CCDS10454.1, CCDS10455.1, CCDS42101.1, CCDS58406.1	16p13.3	2008-02-05			ENSG00000196408	ENSG00000196408			19404	protein-coding gene	gene with protein product		611256					Standard	NM_144603		Approved	P41NOXA, P41NOXB, P41NOXC, SH3PXD5, SNX28	uc002cnx.4	Q8NFA2	OTTHUMG00000128707	ENST00000397280.4:c.129C>T	16.37:g.2030958G>A						NOXO1_ENST00000356120.4_Silent_p.D43D|TBL3_ENST00000568546.1_3'UTR|NOXO1_ENST00000566005.1_Silent_p.D43D|NOXO1_ENST00000397280.4_Silent_p.D43D	p.D43D	NM_001267721.1|NM_144603.3|NM_172167.2|NM_172168.2	NP_001254650.1|NP_653204.1|NP_751907.1|NP_751908.1	Q8NFA2	NOXO1_HUMAN			2	498	-			43			PX.		Q86YM1|Q8NFA3|Q96B73	Silent	SNP	ENST00000397280.4	37	c.129C>T	CCDS42101.1																																																																																				0.642	NOXO1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250612.1			12	36	0	0	0	1	0	12	36					A	2030958	G	A	2030958	2	1	286	1	0	0	0	0	0	0	0	1	10561	1136	40	1		1	NOXO1	16	2030958	Silent	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	204743	2030958	88323795	499	13629											
TRAP1	10131	broad.mit.edu	37	chr16	3727584	3727594	+	Frame_Shift_Del	DEL	AGTAGAAACCC	AGTAGAAACCC	-																															gtcagccaccatgaaagctgAgtagaaacccactccaaact																								rs149991698		TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr16:3727584_3727594delAGTAGAAACCC	ENST00000246957.5	-	6	697_707	c.609_619delGGGTTTCTACT	c.(607-621)gtgggtttctactcafs	p.GFYS204fs	TRAP1_ENST00000575671.1_5'UTR|TRAP1_ENST00000573872.1_5'UTR|TRAP1_ENST00000538171.1_Frame_Shift_Del_p.GFYS151fs	NM_016292.2	NP_057376.2	Q12931	TRAP1_HUMAN	TNF receptor-associated protein 1	204					chaperone-mediated protein folding (GO:0061077)|negative regulation of cellular respiration (GO:1901856)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|regulation of reactive oxygen species metabolic process (GO:2000377)|response to stress (GO:0006950)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|tumor necrosis factor receptor binding (GO:0005164)			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19		Ovarian(90;0.0261)				ATGAAAGCTGAGTAGAAACCCACTCCAAACT	0.592																																						ENST00000246957.5																			0				central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						c.(607-621)gtcafs		TNF receptor-associated protein 1																																				SO:0001589	frameshift_variant	10131				cellular response to oxidative stress|protein folding	mitochondrion	ATP binding|tumor necrosis factor receptor binding|unfolded protein binding	g.chr16:3727584_3727594delAGTAGAAACCC	AF154108	CCDS10508.1, CCDS61824.1	16p13.3	2011-09-02			ENSG00000126602	ENSG00000126602		"Heat shock proteins / HSPC"	16264	protein-coding gene	gene with protein product		606219				10652318, 7876093	Standard	NM_016292		Approved	HSP75, HSP90L	uc002cvt.4	Q12931	OTTHUMG00000129427	ENST00000246957.5:c.609_619delGGGTTTCTACT	16.37:g.3727584_3727594delAGTAGAAACCC	ENSP00000246957:p.Gly204fs					TRAP1_ENST00000538171.1_Frame_Shift_Del_p.VGFYS150fs|TRAP1_ENST00000575671.1_5'UTR|TRAP1_ENST00000573872.1_5'UTR	p.VGFYS203fs	NM_016292.2	NP_057376.2	Q12931	TRAP1_HUMAN			6	697_707	-		Ovarian(90;0.0261)	203					B4DR68|D3DUC8|F5H897|O43642|O75235|Q9UHL5	Frame_Shift_Del	DEL	ENST00000246957.5	37	c.609_619delGGGTTTCTACT	CCDS10508.1																																																																																				0.592	TRAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251586.2	NM_016292		7	76						7	76	---	---	---	---	-	3727594	AGTAGAAACCC	-	3727584	7	5	286	1	0	1	0	1	0	0	0	0	16452	304	11	0	1547	0	TRAP1	16	3727584	Frame_Shift_Del	DEL	AGTAGAAACCC	TCGA-J9-A52C-01A-11D-A26M-08	1696626	3727584	86627169	500	13630											
CREBBP	1387	broad.mit.edu	37	chr16	3781218	3781218	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acacagtgcagtgccagcgcGtctccacgtggtgcttgcac	7	8	12	14	3	1	0	0	0	1	0	2	0	1	0	2	1	5	3	2	1	0	1			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr16:3781218G>A	ENST00000262367.5	-	30	5956	c.5147C>T	c.(5146-5148)aCg>aTg	p.T1716M	CREBBP_ENST00000382070.3_Missense_Mutation_p.T1678M	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	1716	Interaction with TRERF1.				cellular lipid metabolic process (GO:0044255)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|embryonic digit morphogenesis (GO:0042733)|gene expression (GO:0010467)|germ-line stem cell maintenance (GO:0030718)|histone acetylation (GO:0016573)|homeostatic process (GO:0042592)|innate immune response (GO:0045087)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein complex assembly (GO:0006461)|regulation of smoothened signaling pathway (GO:0008589)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|response to hypoxia (GO:0001666)|rhythmic process (GO:0048511)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nuclear body (GO:0016604)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|histone acetyltransferase activity (GO:0004402)|MRF binding (GO:0043426)|p53 binding (GO:0002039)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		GTGCCAGCGCGTCTCCACGTG	0.657			"T, N, F, Mis, O"	"MLL, MORF, RUNXBP2"	"ALL, AML, DLBCL, B-NHL "		Rubinstein-Taybi syndrome																															ENST00000262367.5				Dom/Rec	yes		16	16p13.3	1387	"T, N, F, Mis, O"	CREB binding protein (CBP)	yes	Rubinstein-Taybi syndrome	L	"MLL, MORF, RUNXBP2"		"ALL, AML, DLBCL, B-NHL "		0				NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295						c.(5146-5148)aCg>aTg		CREB binding protein							81	70	73					16																	3781218		2197	4300	6497	SO:0001583	missense	1387				cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding	g.chr16:3781218G>A	U85962	CCDS10509.1, CCDS45399.1	16p13.3	2011-07-01	2008-08-01		ENSG00000005339	ENSG00000005339		"Chromatin-modifying enzymes / K-acetyltransferases"	2348	protein-coding gene	gene with protein product		600140	"Rubinstein-Taybi syndrome"	RSTS		8413673	Standard	NM_001079846		Approved	RTS, CBP, KAT3A	uc002cvv.3	Q92793	OTTHUMG00000129431	ENST00000262367.5:c.5147C>T	16.37:g.3781218G>A	ENSP00000262367:p.Thr1716Met					CREBBP_ENST00000382070.3_Missense_Mutation_p.T1678M	p.T1716M	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)	30	5956	-		Ovarian(90;0.0266)	1716			Interaction with TRERF1.		D3DUC9|O00147|Q16376|Q4LE28	Missense_Mutation	SNP	ENST00000262367.5	37	c.5147C>T	CCDS10509.1	.	.	.	.	.	.	.	.	.	.	g	16.76	3.212579	0.58452	.	.	ENSG00000005339	ENST00000262367;ENST00000543883;ENST00000382070;ENST00000323508	D;D	0.91740	-2.9;-2.9	5.87	5.87	0.94306	Zinc finger, ZZ-type (4);	0.000000	0.85682	D	0.000000	D	0.96439	0.8838	M	0.80422	2.495	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.96310	0.9228	10	0.87932	D	0	-18.7525	20.2191	0.98319	0.0:0.0:1.0:0.0	.	1746;1716	Q4LE28;Q92793	.;CBP_HUMAN	M	1716;1746;1678;251	ENSP00000262367:T1716M;ENSP00000371502:T1678M	ENSP00000262367:T1716M	T	-	2	0	CREBBP	3721219	1.000000	0.71417	0.966000	0.40874	0.878000	0.50629	9.869000	0.99810	2.780000	0.95670	0.655000	0.94253	ACG		0.657	CREBBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251591.2	NM_004380		11	53	0	0	0	1	0	11	53					A	3781218	G	A	3781218	3	1	286	1	0	0	0	0	1	0	0	0	3861	1145	40	1	2189	1	CREBBP	16	3781218	Missense_Mutation	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	53634	3781218	86573535	501	13631											
UBN1	29855	broad.mit.edu	37	chr16	4910928	4910928	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cactgccatggactcgctgaCggatttggacttggagcatc	8	10	12	11	2	0	1	0	1	0	0	2	5	0	5	1	4	2	2	1	4	0	2			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr16:4910928C>T	ENST00000396658.4	+	6	1638	c.935C>T	c.(934-936)aCg>aTg	p.T312M	UBN1_ENST00000545171.1_Missense_Mutation_p.T312M|UBN1_ENST00000585857.1_3'UTR|UBN1_ENST00000590769.1_Missense_Mutation_p.T312M|UBN1_ENST00000262376.6_Missense_Mutation_p.T312M	NM_016936.3	NP_058632.2	Q9NPG3	UBN1_HUMAN	ubinuclein 1	312					chromatin modification (GO:0016568)|DNA replication-independent nucleosome assembly (GO:0006336)|negative regulation of phosphatase activity (GO:0010923)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|viral process (GO:0016032)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|tight junction (GO:0005923)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(6)|kidney(4)|large_intestine(10)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38						GACTCGCTGACGGATTTGGAC	0.562																																						ENST00000396658.4																			0				NS(1)|endometrium(6)|kidney(4)|large_intestine(10)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38						c.(934-936)aCg>aTg		ubinuclein 1							124	107	113					16																	4910928		2197	4300	6497	SO:0001583	missense	29855				chromatin modification|interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter	PML body|tight junction	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr16:4910928C>T	AF108460	CCDS10525.1, CCDS73822.1	16p13.3	2010-11-09			ENSG00000118900	ENSG00000118900			12506	protein-coding gene	gene with protein product		609771				10725330	Standard	XM_005255277		Approved		uc002cyb.3	Q9NPG3	OTTHUMG00000129531	ENST00000396658.4:c.935C>T	16.37:g.4910928C>T	ENSP00000379894:p.Thr312Met					UBN1_ENST00000262376.6_Missense_Mutation_p.T312M|UBN1_ENST00000585857.1_3'UTR|UBN1_ENST00000545171.1_Missense_Mutation_p.T312M|UBN1_ENST00000590769.1_Missense_Mutation_p.T312M	p.T312M	NM_016936.3	NP_058632.2	Q9NPG3	UBN1_HUMAN			6	1638	+			312					B7Z6D3|D3DUE8|Q13079|Q9P1P7	Missense_Mutation	SNP	ENST00000396658.4	37	c.935C>T	CCDS10525.1	.	.	.	.	.	.	.	.	.	.	C	15.30	2.793827	0.50102	.	.	ENSG00000118900	ENST00000262376;ENST00000545171;ENST00000396658	T;T;T	0.46063	1.47;0.88;1.47	5.77	3.67	0.42095	.	0.134840	0.51477	D	0.000083	T	0.47581	0.1453	L	0.36672	1.1	0.29212	N	0.874496	D;D	0.64830	0.994;0.99	P;P	0.54499	0.754;0.572	T	0.50466	-0.8825	10	0.48119	T	0.1	-13.6455	17.2894	0.87150	0.0:0.56:0.44:0.0	.	312;312	Q9NPG3-2;Q9NPG3	.;UBN1_HUMAN	M	312	ENSP00000262376:T312M;ENSP00000442379:T312M;ENSP00000379894:T312M	ENSP00000262376:T312M	T	+	2	0	UBN1	4850929	0.395000	0.25254	0.960000	0.40013	0.984000	0.73092	0.820000	0.27323	1.555000	0.49500	0.655000	0.94253	ACG		0.562	UBN1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251719.1	NM_016936		13	60	0	0	0	1	0	13	60					T	4910928	C	T	4910928	3	4	286	1	0	0	0	0	1	0	0	0	16889	536	19	1	957	1	UBN1	16	4910928	Missense_Mutation	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	1129710	4910928	85443825	502	13632											
PPL	5493	broad.mit.edu	37	chr16	4944500	4944500	+	Frame_Shift_Del	DEL	G	G	-																															gccagggcctcagggtctgtGggggggatcacaaaacacac																								rs147027769		TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr16:4944500delG	ENST00000345988.2	-	12	1451	c.1362delC	c.(1360-1362)cccfs	p.P454fs	PPL_ENST00000590782.2_Frame_Shift_Del_p.P452fs	NM_002705.4	NP_002696	O60437	PEPL_HUMAN	periplakin	454					keratinization (GO:0031424)	cell junction (GO:0030054)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)	p.T455fs*4(1)		breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2)	62						CAGGGTCTGTGGGGGGGATCA	0.612																																						ENST00000345988.2																			1	Insertion - Frameshift(1)	p.T455fs*4(1)	large_intestine(1)	breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2)	62						c.(1360-1362)ccfs		periplakin							86	73	77					16																	4944500		2197	4300	6497	SO:0001589	frameshift_variant	5493				keratinization	cytoskeleton|desmosome|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton	g.chr16:4944500delG	AF013717	CCDS10526.1	16p13.3	2008-02-05			ENSG00000118898	ENSG00000118898			9273	protein-coding gene	gene with protein product		602871				9570964, 9521878	Standard	NM_002705		Approved		uc002cyd.1	O60437	OTTHUMG00000129528	ENST00000345988.2:c.1362delC	16.37:g.4944500delG	ENSP00000340510:p.Pro454fs					PPL_ENST00000590782.2_Frame_Shift_Del_p.P452fs	p.P454fs	NM_002705.4	NP_002696.3	O60437	PEPL_HUMAN			12	1451	-			454					O60314|O60454|Q14C98	Frame_Shift_Del	DEL	ENST00000345988.2	37	c.1362delC	CCDS10526.1																																																																																				0.612	PPL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251715.1	NM_002705		17	66						17	66	---	---	---	---	-	4944500	G	-	4944500	7	5	286	1	0	1	0	1	0	0	0	0	12334	1335	47	0	3952	0	PPL	16	4944500	Frame_Shift_Del	DEL	G	TCGA-J9-A52C-01A-11D-A26M-08	33572	4944500	85410253	503	13633											
FAM86A	196483	broad.mit.edu	37	chr16	5140531	5140531	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtaccgtaggagatgatggcCgtgctctcggagagtgtgac	8	9	16	8	3	1	4	0	2	1	2	2	6	1	4	2	3	2	3	2	3	2	2	rs138095454	byFrequency	TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr16:5140531C>T	ENST00000427587.4	-	5	446	c.378G>A	c.(376-378)acG>acA	p.T126T	FAM86A_ENST00000458008.4_Silent_p.T92T|FAM86A_ENST00000587133.1_Silent_p.T65T	NM_201400.2	NP_958802.1	Q96G04	FA86A_HUMAN	family with sequence similarity 86, member A	126						cytoplasm (GO:0005737)				endometrium(1)|large_intestine(2)|lung(4)|prostate(3)|skin(2)	12						AGATGATGGCCGTGCTCTCGG	0.587													N|||	5	0.000998403	0	0	5008	,	,		20623	0		0	False		,,,				2504	0.0051					ENST00000427587.4																			0				endometrium(1)|large_intestine(2)|lung(4)|prostate(3)|skin(2)	12						c.(376-378)acG>acA		family with sequence similarity 86, member A							84	82	83					16																	5140531		2197	4300	6497	SO:0001819	synonymous_variant	196483							g.chr16:5140531C>T	BC010084	CCDS10529.1, CCDS10530.1, CCDS73823.1	16p13.3	2012-11-07			ENSG00000118894	ENSG00000118894			32221	protein-coding gene	gene with protein product		615263					Standard	NM_201400		Approved	SB153, MGC19636	uc002cyo.2	Q96G04	OTTHUMG00000129527	ENST00000427587.4:c.378G>A	16.37:g.5140531C>T						FAM86A_ENST00000458008.4_Silent_p.T92T|FAM86A_ENST00000587133.1_Silent_p.T65T	p.T126T	NM_201400.2	NP_958802.1	Q96G04	FA86A_HUMAN			5	446	-			126					D3DUF0|Q96S85	Silent	SNP	ENST00000427587.4	37	c.378G>A	CCDS10529.1																																																																																				0.587	FAM86A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251713.1	NM_201400		10	84	0	0	0	1	0	10	84					T	5140531	C	T	5140531	2	4	286	1	0	0	0	0	0	0	0	1	5643	639	23	2		2	FAM86A	16	5140531	Silent	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	196031	5140531	85214222	504	13634											
PRM2	5620	broad.mit.edu	37	chr16	11369998	11369998	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcctgcaggagcgtcttttgCgccttctgcaggagcgatgc	5	10	14	12	3	2	0	0	0	2	0	2	3	2	2	2	2	6	2	2	2	0	3	rs200756329		TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr16:11369998C>T	ENST00000241808.4	-	1	339	c.230G>A	c.(229-231)cGc>cAc	p.R77H	RMI2_ENST00000572173.1_Intron|PRM2_ENST00000435245.2_Missense_Mutation_p.R77H|PRM3_ENST00000327157.2_5'Flank|SNORA48_ENST00000390926.1_RNA	NM_002762.2	NP_002753.2	P04554	PRM2_HUMAN	protamine 2	77					cell differentiation (GO:0030154)|chromosome condensation (GO:0030261)|DNA packaging (GO:0006323)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.0?(1)		central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(2)	7						GCGTCTTTTGCGCCTTCTGCA	0.652													C|||	1	0.000199681	0	0	5008	,	,		13645	0.001		0	False		,,,				2504	0					ENST00000435245.2																			1	Whole gene deletion(1)	p.0?(1)	haematopoietic_and_lymphoid_tissue(1)	central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(2)	7						c.(229-231)cGc>cAc		protamine 2							41	43	42					16																	11369998		2072	4209	6281	SO:0001583	missense	5620				chromosome condensation|multicellular organismal development	nucleoplasm|nucleosome	DNA binding	g.chr16:11369998C>T		CCDS42118.1, CCDS66944.1	16p13.13	2013-10-17			ENSG00000122304	ENSG00000122304			9448	protein-coding gene	gene with protein product	"cancer/testis antigen family 94, member 2"	182890				16632464	Standard	NM_001286356		Approved	CT94.2	uc002dau.1	P04554	OTTHUMG00000172317	ENST00000241808.4:c.230G>A	16.37:g.11369998C>T	ENSP00000241808:p.Arg77His					RMI2_ENST00000572173.1_Intron|PRM2_ENST00000241808.4_Missense_Mutation_p.R77H	p.R77H			P04554	PRM2_HUMAN			1	339	-			77					Q6ZMM0	Missense_Mutation	SNP	ENST00000241808.4	37	c.230G>A	CCDS42118.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	C	17.96	3.515157	0.64634	.	.	ENSG00000122304	ENST00000241808;ENST00000435245	.	.	.	3.44	2.49	0.30216	.	0.000000	0.32719	N	0.005737	T	0.25306	0.0615	L	0.34521	1.04	0.09310	N	0.999997	P;P	0.41848	0.763;0.614	B;B	0.40134	0.32;0.127	T	0.13072	-1.0523	9	0.87932	D	0	-6.095	6.6357	0.22881	0.0:0.8696:0.0:0.1304	.	77;77	Q6ZMM0;P04554	.;PRM2_HUMAN	H	77	.	ENSP00000241808:R77H	R	-	2	0	PRM2	11277499	0.023000	0.18921	0.181000	0.23098	0.131000	0.20780	0.764000	0.26532	1.033000	0.39918	0.491000	0.48974	CGC		0.652	PRM2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417808.1			11	42	0	0	0	1	0	11	42					T	11369998	C	T	11369998	3	4	286	1	0	0	0	0	1	0	0	0	12533	768	27	1	86	1	PRM2	16	11369998	Missense_Mutation	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	6229467	11369998	78984755	505	13635											
XYLT1	64131	broad.mit.edu	37	chr16	17221564	17221564	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aaagtcactgggtgggcttgCgatcttgaagacttttttcg	8	14	12	7	2	2	2	1	1	1	1	3	3	2	2	0	2	1	1	0	2	2	5			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr16:17221564C>T	ENST00000261381.6	-	10	2266	c.2182G>A	c.(2182-2184)Gca>Aca	p.A728T		NM_022166.3	NP_071449.1	Q86Y38	XYLT1_HUMAN	xylosyltransferase I	728					cellular response to heat (GO:0034605)|chondroitin sulfate biosynthetic process (GO:0030206)|glycosaminoglycan biosynthetic process (GO:0006024)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)	endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	acetylglucosaminyltransferase activity (GO:0008375)|protein xylosyltransferase activity (GO:0030158)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						GGTGGGCTTGCGATCTTGAAG	0.488																																						ENST00000261381.6																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						c.(2182-2184)Gca>Aca		xylosyltransferase I							169	169	169					16																	17221564		2197	4300	6497	SO:0001583	missense	64131				glycosaminoglycan biosynthetic process	endoplasmic reticulum membrane|extracellular region|Golgi membrane|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity	g.chr16:17221564C>T	AJ277441	CCDS10569.1	16p12	2013-02-25			ENSG00000103489	ENSG00000103489	2.4.2.26	"Glucosaminyl (N-acetyl) transferase and xylosyltransferase family"	15516	protein-coding gene	gene with protein product	"protein xylosyltransferase 1"	608124				11099377	Standard	NM_022166		Approved	XT-I, PXYLT1	uc002dfa.3	Q86Y38	OTTHUMG00000129975	ENST00000261381.6:c.2182G>A	16.37:g.17221564C>T	ENSP00000261381:p.Ala728Thr						p.A728T	NM_022166.3	NP_071449.1	Q86Y38	XYLT1_HUMAN			10	2266	-			728					Q9H1B6	Missense_Mutation	SNP	ENST00000261381.6	37	c.2182G>A	CCDS10569.1	.	.	.	.	.	.	.	.	.	.	C	16.68	3.190068	0.58017	.	.	ENSG00000103489	ENST00000261381	T	0.45276	0.9	5.76	5.76	0.90799	.	0.045581	0.85682	D	0.000000	T	0.30572	0.0769	N	0.19112	0.55	0.58432	D	0.999991	D	0.53745	0.962	B	0.40199	0.322	T	0.04140	-1.0974	10	0.25106	T	0.35	-18.9337	18.9641	0.92689	0.0:1.0:0.0:0.0	.	728	Q86Y38	XYLT1_HUMAN	T	728	ENSP00000261381:A728T	ENSP00000261381:A728T	A	-	1	0	XYLT1	17129065	1.000000	0.71417	0.862000	0.33874	0.986000	0.74619	4.837000	0.62796	2.713000	0.92767	0.655000	0.94253	GCA		0.488	XYLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252241.2	NM_022166		26	133	0	0	0	1	0	26	133					T	17221564	C	T	17221564	3	4	286	1	0	0	0	0	1	0	0	0	17460	768	27	1	709	1	XYLT1	16	17221564	Missense_Mutation	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	5851566	17221564	73133189	506	13636											
ITPRIPL2	162073	broad.mit.edu	37	chr16	19126687	19126687	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcactgactacggctgctgcCgcctttctatggctgtgcgt	4	12	12	13	3	1	1	0	1	1	0	1	1	1	1	2	2	4	4	2	2	2	3			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr16:19126687C>T	ENST00000381440.3	+	1	1434	c.904C>T	c.(904-906)Cgc>Tgc	p.R302C	CTD-2349B8.1_ENST00000564808.2_Intron	NM_001034841.3	NP_001030013.1	Q3MIP1	IPIL2_HUMAN	inositol 1,4,5-trisphosphate receptor interacting protein-like 2	302						integral component of membrane (GO:0016021)				endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	9						CGGCTGCTGCCGCCTTTCTAT	0.662											OREG0023657	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000381440.3																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	9						c.(904-906)Cgc>Tgc		inositol 1,4,5-trisphosphate receptor interacting protein-like 2							54	56	56					16																	19126687		2196	4300	6496	SO:0001583	missense	162073					integral to membrane		g.chr16:19126687C>T		CCDS32395.1	16p12.3	2011-04-28	2011-04-28		ENSG00000205730	ENSG00000205730			27257	protein-coding gene	gene with protein product			"inositol 1,4,5-triphosphate receptor interacting protein-like 2"				Standard	NM_001034841		Approved	FLJ22994, MGC126798, MGC126800, LOC162073	uc002dfu.4	Q3MIP1		ENST00000381440.3:c.904C>T	16.37:g.19126687C>T	ENSP00000370849:p.Arg302Cys		OREG0023657	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	730	CTD-2349B8.1_ENST00000564808.2_Intron	p.R302C	NM_001034841.3	NP_001030013.1	Q3MIP1	IPIL2_HUMAN			1	1434	+			302						Missense_Mutation	SNP	ENST00000381440.3	37	c.904C>T	CCDS32395.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.099143	0.76983	.	.	ENSG00000205730	ENST00000381440	T	0.19250	2.16	4.89	3.92	0.45320	.	0.128768	0.28946	U	0.013626	T	0.30293	0.0760	N	0.24115	0.695	0.47341	D	0.999399	D	0.76494	0.999	D	0.64877	0.93	T	0.08827	-1.0703	10	0.72032	D	0.01	-10.0651	14.3578	0.66750	0.1496:0.8504:0.0:0.0	.	302	Q3MIP1	IPIL2_HUMAN	C	302	ENSP00000370849:R302C	ENSP00000370849:R302C	R	+	1	0	ITPRIPL2	19034188	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	4.527000	0.60573	0.996000	0.38943	0.655000	0.94253	CGC		0.662	ITPRIPL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435827.3	NM_001034841		10	69	0	0	0	1	0	10	69					T	19126687	C	T	19126687	3	4	286	1	0	0	0	0	1	0	0	0	7925	652	23	2	906	2	ITPRIPL2	16	19126687	Missense_Mutation	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	1905123	19126687	71228066	507	13637											
ERN2	10595	broad.mit.edu	37	chr16	23712400	23712400	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttttcttctggatgcagctcGgagtcccaaagtttctctcg	6	15	9	11	2	3	0	0	0	3	0	7	2	4	2	1	2	2	3	1	2	1	4	rs572180599		TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr16:23712400G>A	ENST00000256797.4	-	12	1551	c.1383C>T	c.(1381-1383)tcC>tcT	p.S461S	ERN2_ENST00000457008.2_Intron	NM_033266.3	NP_150296.3			endoplasmic reticulum to nucleus signaling 2											large_intestine(2)|lung(2)|ovary(2)	6				GBM - Glioblastoma multiforme(48;0.0156)		GATGCAGCTCGGAGTCCCAAA	0.552													G|||	1	0.000199681	8e-04	0	5008	,	,		17976	0		0	False		,,,				2504	0					ENST00000256797.4																			0				large_intestine(2)|lung(2)|ovary(2)	6						c.(1381-1383)tcC>tcT		endoplasmic reticulum to nucleus signaling 2							73	74	74					16																	23712400		2197	4300	6497	SO:0001819	synonymous_variant	10595				apoptosis|induction of apoptosis|mRNA processing|negative regulation of transcription, DNA-dependent|rRNA catabolic process|transcription, DNA-dependent	endoplasmic reticulum membrane|integral to membrane	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein serine/threonine kinase activity	g.chr16:23712400G>A	AA527544	CCDS32407.1	16p12.2	2008-02-05	2007-08-14			ENSG00000134398			16942	protein-coding gene	gene with protein product		604034	"ER to nucleus signalling 2"			9755171, 11175748	Standard	NM_033266		Approved	IRE1b	uc002dma.4	Q76MJ5		ENST00000256797.4:c.1383C>T	16.37:g.23712400G>A						ERN2_ENST00000457008.2_Intron	p.S461S	NM_033266.3	NP_150296.3	Q76MJ5	ERN2_HUMAN		GBM - Glioblastoma multiforme(48;0.0156)	12	1551	-			413						Silent	SNP	ENST00000256797.4	37	c.1383C>T	CCDS32407.1																																																																																				0.552	ERN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434887.1			13	57	0	0	0	1	0	13	57					A	23712400	G	A	23712400	2	1	286	1	0	0	0	0	0	0	0	1	5238	1103	39	2		2	ERN2	16	23712400	Silent	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	4585713	23712400	66642353	508	13638											
KIAA0556	23247	broad.mit.edu	37	chr16	27689214	27689214	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaccgccctccttccagtggCgactggactcagaaagatgt	9	8	11	13	2	1	2	1	0	0	2	3	5	3	3	4	2	0	0	4	2	1	1			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr16:27689214C>T	ENST00000261588.4	+	7	724	c.705C>T	c.(703-705)ggC>ggT	p.G235G	KIAA0556_ENST00000567894.1_3'UTR|CTD-2049O4.1_ENST00000564893.1_RNA	NM_015202.2	NP_056017.2	O60303	K0556_HUMAN	KIAA0556	235						extracellular space (GO:0005615)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(4)|endometrium(7)|kidney(8)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	76						CTTCCAGTGGCGACTGGACTC	0.562																																						ENST00000261588.4																			0				breast(4)|endometrium(7)|kidney(8)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	76						c.(703-705)ggC>ggT		KIAA0556							64	61	62					16																	27689214		2197	4300	6497	SO:0001819	synonymous_variant	23247							g.chr16:27689214C>T	AB011128	CCDS32415.1	16p12.1-p11.2	2012-11-30			ENSG00000047578	ENSG00000047578			29068	protein-coding gene	gene with protein product						9628581	Standard	NM_015202		Approved		uc002dow.3	O60303	OTTHUMG00000176780	ENST00000261588.4:c.705C>T	16.37:g.27689214C>T						KIAA0556_ENST00000567894.1_3'UTR	p.G235G	NM_015202.2	NP_056017.2	O60303	K0556_HUMAN			7	724	+			235					A7E2C2	Silent	SNP	ENST00000261588.4	37	c.705C>T	CCDS32415.1																																																																																				0.562	KIAA0556-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433724.1	NM_015202		10	51	0	0	0	1	0	10	51					T	27689214	C	T	27689214	2	4	286	1	0	0	0	0	0	0	0	1	8183	755	27	1		1	KIAA0556	16	27689214	Silent	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	3976814	27689214	62665539	509	13639											
SEZ6L2	26470	broad.mit.edu	37	chr16	29884628	29884628	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acacaggtgatggtgacctcGccgataagctcaaagccctc	11	7	10	13	2	1	2	1	2	0	0	3	3	1	2	3	2	2	1	3	2	2	1			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr16:29884628G>A	ENST00000308713.5	-	14	2948	c.2421C>T	c.(2419-2421)ggC>ggT	p.G807G	SEZ6L2_ENST00000346932.5_Silent_p.G693G|SEZ6L2_ENST00000537485.1_Silent_p.G763G|SEZ6L2_ENST00000350527.3_Silent_p.G737G	NM_001114099.2|NM_201575.3	NP_001107571.1|NP_963869.2	Q6UXD5	SE6L2_HUMAN	seizure related 6 homolog (mouse)-like 2	807	Sushi 5. {ECO:0000255|PROSITE- ProRule:PRU00302}.				adult locomotory behavior (GO:0008344)|cerebellar Purkinje cell layer development (GO:0021680)|regulation of protein kinase C signaling (GO:0090036)|synapse maturation (GO:0060074)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)				breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TGGTGACCTCGCCGATAAGCT	0.642																																						ENST00000308713.5																			0				breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						c.(2419-2421)ggC>ggT		seizure related 6 homolog (mouse)-like 2							91	89	90					16																	29884628		2197	4300	6497	SO:0001819	synonymous_variant	26470					endoplasmic reticulum membrane|integral to membrane|plasma membrane		g.chr16:29884628G>A	AY358404	CCDS10658.1, CCDS10659.1, CCDS45458.1, CCDS58447.1, CCDS73865.1	16p12.1	2008-02-05			ENSG00000174938	ENSG00000174938			30844	protein-coding gene	gene with protein product	"type I transmembrane receptor (seizure related protein)"					12975309	Standard	NM_012410		Approved	PSK-1, FLJ90517	uc010vec.2	Q6UXD5	OTTHUMG00000132112	ENST00000308713.5:c.2421C>T	16.37:g.29884628G>A						SEZ6L2_ENST00000537485.1_Silent_p.G763G|SEZ6L2_ENST00000350527.3_Silent_p.G737G|SEZ6L2_ENST00000346932.5_Silent_p.G693G	p.G807G	NM_001114099.2|NM_201575.3	NP_001107571.1|NP_963869.2	Q6UXD5	SE6L2_HUMAN			14	2948	-			807			Sushi 5.		B7Z1N0|F5H293|H7BXQ6|Q9BW82|Q9UJ45|Q9UJ46|Q9UJ47	Silent	SNP	ENST00000308713.5	37	c.2421C>T	CCDS10659.1																																																																																				0.642	SEZ6L2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255154.2	NM_012410		16	73	0	0	0	1	0	16	73					A	29884628	G	A	29884628	2	1	286	1	0	0	0	0	0	0	0	1	14144	1074	38	1		1	SEZ6L2	16	29884628	Silent	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	2195414	29884628	60470125	510	13640											
SHCBP1	79801	broad.mit.edu	37	chr16	46638334	46638334	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agattgtggtagtcaacaatAagtcctgatggaactcggtc	12	11	11	7	1	1	2	1	1	0	1	4	3	2	3	1	3	2	1	1	3	5	3			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr16:46638334A>G	ENST00000303383.3	-	6	995	c.729T>C	c.(727-729)ctT>ctC	p.L243L		NM_024745.4	NP_079021	Q8NEM2	SHCBP_HUMAN	SHC SH2-domain binding protein 1	243					fibroblast growth factor receptor signaling pathway (GO:0008543)|regulation of neural precursor cell proliferation (GO:2000177)					breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		all_cancers(37;0.00404)|all_epithelial(9;0.00527)|all_lung(18;0.0413)|Lung NSC(13;0.213)				AGTCAACAATAAGTCCTGATG	0.373																																						ENST00000303383.3																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						c.(727-729)ctT>ctC		SHC SH2-domain binding protein 1							94	96	96					16																	46638334		2203	4300	6503	SO:0001819	synonymous_variant	79801							g.chr16:46638334A>G	AK055931	CCDS10720.1	16q11	2008-02-05			ENSG00000171241	ENSG00000171241			29547	protein-coding gene	gene with protein product		611027				10086341	Standard	NM_024745		Approved	FLJ22009	uc002eec.4	Q8NEM2	OTTHUMG00000132540	ENST00000303383.3:c.729T>C	16.37:g.46638334A>G							p.L243L	NM_024745.4	NP_079021.3	Q8NEM2	SHCBP_HUMAN			6	995	-		all_cancers(37;0.00404)|all_epithelial(9;0.00527)|all_lung(18;0.0413)|Lung NSC(13;0.213)	243					Q96N60|Q9BVS0|Q9H6P6	Silent	SNP	ENST00000303383.3	37	c.729T>C	CCDS10720.1																																																																																				0.373	SHCBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255740.1	NM_024745		16	69	0	0	0	1	0	16	69					G	46638334	A	G	46638334	2	3	286	1	0	0	0	0	0	0	0	1	14274	349	13	4		4	SHCBP1	16	46638334	Silent	SNP	A	TCGA-J9-A52C-01A-11D-A26M-08	16753706	46638334	43716419	511	13641											
PHKB	5257	broad.mit.edu	37	chr16	47630341	47630341	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgactttgtagaatatgaaaAaaataaccctggtagtcaaa	18	11	7	5	0	1	3	1	2	0	1	1	3	1	3	1	1	1	2	1	1	9	5			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr16:47630341A>T	ENST00000323584.5	+	13	1286	c.1262A>T	c.(1261-1263)aAa>aTa	p.K421I	PHKB_ENST00000299167.8_Missense_Mutation_p.K421I|PHKB_ENST00000455779.1_Missense_Mutation_p.K414I|PHKB_ENST00000566044.1_Missense_Mutation_p.K414I	NM_000293.2	NP_000284.1	Q93100	KPBB_HUMAN	phosphorylase kinase, beta	421					carbohydrate metabolic process (GO:0005975)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|glycogen metabolic process (GO:0005977)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|phosphorylase kinase complex (GO:0005964)|plasma membrane (GO:0005886)	hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)|phosphorylase kinase activity (GO:0004689)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|liver(1)|lung(18)|ovary(1)|skin(1)	41		all_cancers(37;0.00447)|all_lung(18;0.00616)|Lung NSC(13;0.0418)|Breast(268;0.203)				GAATATGAAAAAAATAACCCT	0.348																																						ENST00000455779.1																			0				breast(2)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|liver(1)|lung(18)|ovary(1)|skin(1)	41						c.(1240-1242)aAa>aTa		phosphorylase kinase, beta							91	98	96					16																	47630341		2201	4300	6501	SO:0001583	missense	5257				glucose metabolic process|glycogen catabolic process	cytosol|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity	g.chr16:47630341A>T		CCDS10729.1, CCDS42161.1	16q12-q13	2009-07-10			ENSG00000102893	ENSG00000102893	2.7.11.19		8927	protein-coding gene	gene with protein product		172490					Standard	NM_000293		Approved		uc002eev.4	Q93100	OTTHUMG00000133102	ENST00000323584.5:c.1262A>T	16.37:g.47630341A>T	ENSP00000313504:p.Lys421Ile					PHKB_ENST00000323584.5_Missense_Mutation_p.K421I|PHKB_ENST00000566044.1_Missense_Mutation_p.K414I|PHKB_ENST00000299167.8_Missense_Mutation_p.K421I	p.K414I			Q93100	KPBB_HUMAN			14	1426	+		all_cancers(37;0.00447)|all_lung(18;0.00616)|Lung NSC(13;0.0418)|Breast(268;0.203)	421					Q8N4T5	Missense_Mutation	SNP	ENST00000323584.5	37	c.1241A>T	CCDS10729.1	.	.	.	.	.	.	.	.	.	.	A	28.8	4.953836	0.92660	.	.	ENSG00000102893	ENST00000299167;ENST00000455779;ENST00000323584	D;D	0.93247	-3.19;-3.19	5.73	5.73	0.89815	Six-hairpin glycosidase-like (1);Glycoside hydrolase 15-related (1);	0.047561	0.85682	D	0.000000	D	0.95249	0.8459	L	0.56396	1.775	0.80722	D	1	D;D	0.56968	0.978;0.971	P;P	0.61003	0.882;0.809	D	0.95335	0.8433	10	0.56958	D	0.05	-22.9088	16.0183	0.80460	1.0:0.0:0.0:0.0	.	421;414	Q93100;Q93100-4	KPBB_HUMAN;.	I	414;414;421	ENSP00000414345:K414I;ENSP00000313504:K421I	ENSP00000299167:K414I	K	+	2	0	PHKB	46187842	1.000000	0.71417	0.996000	0.52242	0.965000	0.64279	9.079000	0.94032	2.187000	0.69744	0.533000	0.62120	AAA		0.348	PHKB-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000430413.1			6	77	0	0	0	1	0	6	77					T	47630341	A	T	47630341	3	4	286	1	0	0	0	0	1	0	0	0	11845	14	1	5	1371	5	PHKB	16	47630341	Missense_Mutation	SNP	A	TCGA-J9-A52C-01A-11D-A26M-08	992007	47630341	42724412	512	13642											
CNOT1	23019	broad.mit.edu	37	chr16	58615359	58615359	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atgaagtcctttactgtcacGaatttgaaatccaggatggt	12	13	9	7	1	1	2	1	2	0	0	3	4	3	3	2	2	1	0	2	2	4	3	rs371890421		TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr16:58615359G>A	ENST00000317147.5	-	11	1437	c.1105C>T	c.(1105-1107)Cgt>Tgt	p.R369C	CNOT1_ENST00000441024.2_Missense_Mutation_p.R369C|CNOT1_ENST00000569240.1_Missense_Mutation_p.R369C	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1	369					gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of cytoplasmic mRNA processing body assembly (GO:0010606)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|regulation of stem cell maintenance (GO:2000036)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|transcription, DNA-templated (GO:0006351)|trophectodermal cell differentiation (GO:0001829)	CCR4-NOT complex (GO:0030014)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|extracellular space (GO:0005615)|membrane (GO:0016020)|nucleus (GO:0005634)|peroxisomal membrane (GO:0005778)	estrogen receptor binding (GO:0030331)|poly(A) RNA binding (GO:0044822)|retinoic acid receptor binding (GO:0042974)	p.R369C(2)		breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		TTACTGTCACGAATTTGAAAT	0.373																																						ENST00000317147.5																			2	Substitution - Missense(2)	p.R369C(2)	large_intestine(2)	breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87						c.(1105-1107)Cgt>Tgt		CCR4-NOT transcription complex, subunit 1		G	CYS/ARG,CYS/ARG	1,4395	2.1+/-5.4	0,1,2197	102	93	96		1105,1105	5.3	1	16		96	0,8600		0,0,4300	no	missense,missense	CNOT1	NM_016284.3,NM_206999.1	180,180	0,1,6497	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging	369/2377,369/1552	58615359	1,12995	2198	4300	6498	SO:0001583	missense	23019				nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol		g.chr16:58615359G>A	AL833549	CCDS10799.1, CCDS45501.1, CCDS58468.1	16q21	2008-02-05			ENSG00000125107	ENSG00000125107			7877	protein-coding gene	gene with protein product		604917		NOT1		14702039	Standard	NM_016284		Approved	CDC39, NOT1H, KIAA1007, AD-005	uc002env.4	A5YKK6	OTTHUMG00000133487	ENST00000317147.5:c.1105C>T	16.37:g.58615359G>A	ENSP00000320949:p.Arg369Cys					CNOT1_ENST00000441024.2_Missense_Mutation_p.R369C|CNOT1_ENST00000569240.1_Missense_Mutation_p.R369C	p.R369C	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN		Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)	11	1437	-			369					Q68DX7|Q7Z3K2|Q8IWB8|Q8TB53|Q9BVZ6|Q9UFR8|Q9UI27|Q9Y2L0	Missense_Mutation	SNP	ENST00000317147.5	37	c.1105C>T	CCDS10799.1	.	.	.	.	.	.	.	.	.	.	G	24.9	4.578957	0.86645	2.27E-4	0.0	ENSG00000125107	ENST00000317147;ENST00000394200;ENST00000441024	T;T	0.41758	0.99;0.99	5.3	5.3	0.74995	.	0.000000	0.85682	D	0.000000	T	0.52500	0.1738	L	0.43152	1.355	0.80722	D	1	D;D;D	0.76494	0.998;0.999;0.998	P;P;P	0.56916	0.809;0.642;0.731	T	0.45234	-0.9275	9	.	.	.	-5.2419	18.9648	0.92692	0.0:0.0:1.0:0.0	.	369;369;369	A5YKK6-4;A5YKK6;A5YKK6-2	.;CNOT1_HUMAN;.	C	369	ENSP00000320949:R369C;ENSP00000413113:R369C	.	R	-	1	0	CNOT1	57172860	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.775000	0.85489	2.486000	0.83907	0.563000	0.77884	CGT		0.373	CNOT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257385.3	NM_016284		7	40	0	0	0	1	0	7	40					A	58615359	G	A	58615359	3	1	286	1	0	0	0	0	1	0	0	0	3617	1058	37	2	6403	2	CNOT1	16	58615359	Missense_Mutation	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	10985018	58615359	31739394	513	13643											
NAE1	8883	broad.mit.edu	37	chr16	66852502	66852502	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aggaaatggcttatctagtcGtagatcctctaatgcattat	12	14	8	7	1	2	1	0	0	2	1	4	2	3	2	1	2	1	3	1	2	6	5			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr16:66852502G>A	ENST00000290810.3	-	8	647	c.550C>T	c.(550-552)Cga>Tga	p.R184*	NAE1_ENST00000379463.2_Nonsense_Mutation_p.R178*|NAE1_ENST00000359087.4_Nonsense_Mutation_p.R187*|NAE1_ENST00000564040.2_5'Flank|NAE1_ENST00000394074.2_Nonsense_Mutation_p.R95*			Q13564	ULA1_HUMAN	NEDD8 activating enzyme E1 subunit 1	184					mitotic DNA replication checkpoint (GO:0033314)|neuron apoptotic process (GO:0051402)|protein neddylation (GO:0045116)|regulation of apoptotic process (GO:0042981)|regulation of neuron apoptotic process (GO:0043523)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	catalytic activity (GO:0003824)|protein heterodimerization activity (GO:0046982)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0914)|Epithelial(162;0.214)	Adenosine triphosphate(DB00171)	TTATCTAGTCGTAGATCCTCT	0.328																																						ENST00000379463.2																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						c.(532-534)Cga>Tga		NEDD8 activating enzyme E1 subunit 1	Adenosine triphosphate(DB00171)						83	77	79					16																	66852502		2200	4299	6499	SO:0001587	stop_gained	8883				apoptosis|cell cycle|DNA replication|mitotic cell cycle DNA replication checkpoint|protein neddylation|signal transduction	cytoplasm|insoluble fraction|plasma membrane	catalytic activity|protein heterodimerization activity	g.chr16:66852502G>A	U50939	CCDS10820.1, CCDS42171.1, CCDS42172.1, CCDS67050.1	16q22	2013-09-26	2007-12-11	2007-12-11	ENSG00000159593	ENSG00000159593		"Ubiquitin-like modifier activating enzymes"	621	protein-coding gene	gene with protein product		603385	"amyloid beta precursor protein binding protein 1, 59kDa"	APPBP1		8626687, 12740388	Standard	XM_005256215		Approved	ula-1	uc002eqf.3	Q13564	OTTHUMG00000137513	ENST00000290810.3:c.550C>T	16.37:g.66852502G>A	ENSP00000290810:p.Arg184*					NAE1_ENST00000394074.2_Nonsense_Mutation_p.R95*|NAE1_ENST00000359087.4_Nonsense_Mutation_p.R187*|NAE1_ENST00000290810.3_Nonsense_Mutation_p.R184*	p.R178*	NM_001018159.1	NP_001018169.1	Q13564	ULA1_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0914)|Epithelial(162;0.214)	9	724	-		Ovarian(137;0.0563)	184					A6NCK0|A6NFN4|A8MU28|B2R700|B3KUP9	Nonsense_Mutation	SNP	ENST00000290810.3	37	c.532C>T	CCDS10820.1	.	.	.	.	.	.	.	.	.	.	G	25.9	4.683088	0.88542	.	.	ENSG00000159593	ENST00000359087;ENST00000290810;ENST00000379463;ENST00000394074	.	.	.	5.42	4.4	0.53042	.	0.101910	0.64402	D	0.000004	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.9017	0.52687	0.0:0.0:0.6661:0.3339	.	.	.	.	X	187;184;178;95	.	ENSP00000290810:R184X	R	-	1	2	NAE1	65410003	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.221000	0.58574	2.691000	0.91804	0.655000	0.94253	CGA		0.328	NAE1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000268832.1	NM_003905		3	20	0	0	0	1	0	3	20					A	66852502	G	A	66852502	4	1	286	1	0	0	0	0	0	1	0	0	10139	1153	40	1	1106	1	NAE1	16	66852502	Nonsense_Mutation	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	8237143	66852502	23502251	514	13644											
CDH16	1014	broad.mit.edu	37	chr16	66946460	66946460	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gatatctgtgactgcgacttCgacttcacacgtgctgctga	8	12	10	11	3	2	2	1	2	1	0	3	5	2	2	0	0	3	2	0	0	1	3			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr16:66946460C>T	ENST00000299752.4	-	11	1499	c.1306G>A	c.(1306-1308)Gaa>Aaa	p.E436K	CDH16_ENST00000570262.1_Missense_Mutation_p.E356K|CDH16_ENST00000565796.1_Missense_Mutation_p.E436K|CDH16_ENST00000394055.3_Missense_Mutation_p.E436K|CDH16_ENST00000568632.1_Missense_Mutation_p.E339K	NM_001204744.1|NM_001204745.1|NM_004062.3	NP_001191673.1|NP_001191674.1|NP_004053.1	O75309	CAD16_HUMAN	cadherin 16, KSP-cadherin	436	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)	basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)			endometrium(1)|kidney(3)|large_intestine(10)|lung(15)|ovary(2)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0877)|Epithelial(162;0.203)		ACTGCGACTTCGACTTCACAC	0.592																																						ENST00000299752.4																			0				endometrium(1)|kidney(3)|large_intestine(10)|lung(15)|ovary(2)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						c.(1306-1308)Gaa>Aaa		cadherin 16, KSP-cadherin							131	119	123					16																	66946460		2200	4300	6500	SO:0001583	missense	1014				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr16:66946460C>T	AF016272	CCDS10823.1, CCDS56002.1, CCDS58471.1, CCDS58472.1	16q22.1	2010-01-26			ENSG00000166589	ENSG00000166589		"Cadherins / Major cadherins"	1755	protein-coding gene	gene with protein product		603118				9721215, 7615566	Standard	NM_004062		Approved		uc002eql.3	O75309	OTTHUMG00000137518	ENST00000299752.4:c.1306G>A	16.37:g.66946460C>T	ENSP00000299752:p.Glu436Lys					CDH16_ENST00000394055.3_Missense_Mutation_p.E436K|CDH16_ENST00000570262.1_Missense_Mutation_p.E356K|CDH16_ENST00000565796.1_Missense_Mutation_p.E436K|CDH16_ENST00000568632.1_Missense_Mutation_p.E339K	p.E436K	NM_001204744.1|NM_001204745.1|NM_004062.3	NP_001191673.1|NP_001191674.1|NP_004053.1	O75309	CAD16_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0877)|Epithelial(162;0.203)	11	1499	-		Ovarian(137;0.0563)	436			Cadherin 4.		B4DPA8|H3BPD3|Q6UW93	Missense_Mutation	SNP	ENST00000299752.4	37	c.1306G>A	CCDS10823.1	.	.	.	.	.	.	.	.	.	.	C	0.011	-1.729110	0.00687	.	.	ENSG00000166589	ENST00000394055;ENST00000299752;ENST00000544875	T;T	0.51071	0.72;0.72	4.72	-9.29	0.00653	Cadherin (4);Cadherin-like (1);	1.743040	0.02650	N	0.106323	T	0.16041	0.0386	N	0.16567	0.415	0.09310	N	1	P;P;P	0.39847	0.572;0.691;0.626	B;B;B	0.29440	0.053;0.102;0.097	T	0.44159	-0.9346	10	0.06365	T	0.9	3.216	0.9283	0.01329	0.3116:0.2024:0.103:0.383	.	436;436;436	O75309-2;B2R7S8;O75309	.;.;CAD16_HUMAN	K	436;436;400	ENSP00000377619:E436K;ENSP00000299752:E436K	ENSP00000299752:E436K	E	-	1	0	CDH16	65503961	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-5.589000	0.00111	-1.724000	0.01373	-0.367000	0.07326	GAA		0.592	CDH16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268839.2	NM_004062		14	45	0	0	0	1	0	14	45					T	66946460	C	T	66946460	3	4	286	1	0	0	0	0	1	0	0	0	3101	893	31	2	1215	2	CDH16	16	66946460	Missense_Mutation	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	93958	66946460	23408293	515	13645											
LRRC29	26231	broad.mit.edu	37	chr16	67241597	67241597	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcttggaagcgtctgacggCggccatgttgatgccagggc	6	8	17	10	3	1	2	0	2	1	0	1	3	1	3	2	5	2	2	2	5	1	2			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr16:67241597C>T	ENST00000409037.1	-	4	1479	c.583G>A	c.(583-585)Gcc>Acc	p.A195T	LRRC29_ENST00000341546.3_Missense_Mutation_p.A195T|LRRC29_ENST00000409509.1_Missense_Mutation_p.A195T|LRRC29_ENST00000462169.1_5'Flank|LRRC29_ENST00000393992.1_Missense_Mutation_p.A195T			Q8WV35	LRC29_HUMAN	leucine rich repeat containing 29	195										autonomic_ganglia(1)|breast(1)|endometrium(1)|large_intestine(1)|lung(2)|urinary_tract(1)	7		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.000691)|Epithelial(162;0.00462)|all cancers(182;0.0434)		CGTCTGACGGCGGCCATGTTG	0.647																																						ENST00000409037.1																			0				autonomic_ganglia(1)|breast(1)|endometrium(1)|large_intestine(1)|lung(2)|urinary_tract(1)	7						c.(583-585)Gcc>Acc		leucine rich repeat containing 29							53	49	50					16																	67241597		2198	4300	6498	SO:0001583	missense	26231							g.chr16:67241597C>T	AF176701	CCDS32465.1	16q22.1	2008-02-05	2004-08-23	2004-08-26	ENSG00000125122	ENSG00000125122			13605	protein-coding gene	gene with protein product			"F-box and leucine-rich repeat protein 9"	FBXL9		10531037	Standard	NM_012163		Approved	FBL9	uc002esf.3	Q8WV35	OTTHUMG00000154403	ENST00000409037.1:c.583G>A	16.37:g.67241597C>T	ENSP00000387318:p.Ala195Thr					LRRC29_ENST00000409509.1_Missense_Mutation_p.A195T|LRRC29_ENST00000393992.1_Missense_Mutation_p.A195T|LRRC29_ENST00000341546.3_Missense_Mutation_p.A195T	p.A195T			Q8WV35	LRC29_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.000691)|Epithelial(162;0.00462)|all cancers(182;0.0434)	4	1479	-		Ovarian(137;0.0563)	195					B2RE92|Q9UKA0	Missense_Mutation	SNP	ENST00000409037.1	37	c.583G>A	CCDS32465.1	.	.	.	.	.	.	.	.	.	.	C	10.97	1.502268	0.26949	.	.	ENSG00000125122	ENST00000409509;ENST00000393992;ENST00000409037;ENST00000341546;ENST00000433915	T;T;T;T;T	0.32753	1.44;1.44;1.44;1.44;2.33	5.06	3.1	0.35709	.	0.284421	0.34411	N	0.003984	T	0.20981	0.0505	L	0.60455	1.87	0.09310	N	1	B	0.32604	0.377	B	0.19148	0.024	T	0.17776	-1.0358	10	0.15499	T	0.54	.	6.3114	0.21166	0.1945:0.7092:0.0:0.0963	.	195	Q8WV35	LRC29_HUMAN	T	195;195;195;195;147	ENSP00000386622:A195T;ENSP00000377561:A195T;ENSP00000387318:A195T;ENSP00000344364:A195T;ENSP00000413129:A147T	ENSP00000344364:A195T	A	-	1	0	LRRC29	65799098	0.161000	0.22892	0.017000	0.16124	0.036000	0.12997	0.637000	0.24659	0.534000	0.28695	-0.283000	0.09986	GCC		0.647	LRRC29-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335073.1	NM_012163		7	48	0	0	0	1	0	7	48					T	67241597	C	T	67241597	3	4	286	1	0	0	0	0	1	0	0	0	8983	768	27	1	92	1	LRRC29	16	67241597	Missense_Mutation	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	295137	67241597	23113156	516	13646											
GFOD2	81577	broad.mit.edu	37	chr16	67709621	67709621	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cacgaatgtcttgagcagccCgtgcaccttctcggctctcc	6	10	9	16	3	3	1	0	1	3	0	5	2	3	1	3	1	3	3	3	1	1	2			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr16:67709621C>T	ENST00000268797.7	-	3	940	c.595G>A	c.(595-597)Ggg>Agg	p.G199R	GFOD2_ENST00000602377.1_5'UTR	NM_030819.3	NP_110446.3	Q3B7J2	GFOD2_HUMAN	glucose-fructose oxidoreductase domain containing 2	199					extracellular matrix organization (GO:0030198)	proteinaceous extracellular matrix (GO:0005578)	oxidoreductase activity (GO:0016491)			breast(2)|endometrium(1)|large_intestine(4)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	19		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0151)|Epithelial(162;0.0505)|all cancers(182;0.242)		TTGAGCAGCCCGTGCACCTTC	0.617																																						ENST00000268797.7																			0				breast(2)|endometrium(1)|large_intestine(4)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	19						c.(595-597)Ggg>Agg		glucose-fructose oxidoreductase domain containing 2							62	59	60					16																	67709621		2198	4300	6498	SO:0001583	missense	81577					proteinaceous extracellular matrix	binding|oxidoreductase activity	g.chr16:67709621C>T	AK074382	CCDS10845.1, CCDS59268.1	16q22.1	2008-02-05			ENSG00000141098	ENSG00000141098			28159	protein-coding gene	gene with protein product						12975309	Standard	NM_030819		Approved	FLJ23802, MGC11335	uc002eub.3	Q3B7J2	OTTHUMG00000137537	ENST00000268797.7:c.595G>A	16.37:g.67709621C>T	ENSP00000268797:p.Gly199Arg					GFOD2_ENST00000602377.1_5'UTR	p.G199R	NM_030819.3	NP_110446.3	Q3B7J2	GFOD2_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0151)|Epithelial(162;0.0505)|all cancers(182;0.242)	3	940	-		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)	199					Q69YL9|Q6UXX6|Q7L648|Q8TE86|Q9BQ07|R4GNG5	Missense_Mutation	SNP	ENST00000268797.7	37	c.595G>A	CCDS10845.1	.	.	.	.	.	.	.	.	.	.	C	25.3	4.622306	0.87460	.	.	ENSG00000141098	ENST00000268797	T	0.50001	0.76	5.28	5.28	0.74379	.	0.000000	0.85682	D	0.000000	T	0.72811	0.3507	M	0.83012	2.62	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.76955	-0.2767	10	0.87932	D	0	-35.7106	18.8749	0.92331	0.0:1.0:0.0:0.0	.	199	Q3B7J2	GFOD2_HUMAN	R	199	ENSP00000268797:G199R	ENSP00000268797:G199R	G	-	1	0	GFOD2	66267122	1.000000	0.71417	0.968000	0.41197	0.658000	0.38924	7.792000	0.85828	2.625000	0.88918	0.557000	0.71058	GGG		0.617	GFOD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268868.2	NM_030819		10	48	0	0	0	1	0	10	48					T	67709621	C	T	67709621	3	4	286	1	0	0	0	0	1	0	0	0	6344	652	23	2	566	2	GFOD2	16	67709621	Missense_Mutation	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	468024	67709621	22645132	517	13647											
SLC12A4	6560	broad.mit.edu	37	chr16	67981973	67981973	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gcatggctcaccagtgatagTacttgaaccggggccgccag	9	7	13	12	2	1	2	1	2	0	0	1	2	1	2	4	3	2	3	4	3	3	3			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr16:67981973T>C	ENST00000316341.3	-	14	1978	c.1838A>G	c.(1837-1839)tAc>tGc	p.Y613C	SLC12A4_ENST00000576616.1_Missense_Mutation_p.Y613C|SLC12A4_ENST00000338335.3_Missense_Mutation_p.Y613C|SLC12A4_ENST00000541864.2_Missense_Mutation_p.Y582C|SLC12A4_ENST00000572037.1_Missense_Mutation_p.Y565C|SLC12A4_ENST00000422611.2_Missense_Mutation_p.Y615C|SLC12A4_ENST00000537830.2_Missense_Mutation_p.Y607C	NM_001145961.1|NM_005072.4	NP_001139433.1|NP_005063.1	Q9UP95	S12A4_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 4	613					cell volume homeostasis (GO:0006884)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|potassium ion transport (GO:0006813)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|plasma membrane (GO:0005886)	potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(2)|ovary(2)|prostate(4)|skin(2)|urinary_tract(3)	29		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)	Bumetanide(DB00887)|Potassium Chloride(DB00761)	CCAGTGATAGTACTTGAACCG	0.602																																						ENST00000422611.2																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(2)|ovary(2)|prostate(4)|skin(2)|urinary_tract(3)	29						c.(1843-1845)tAc>tGc		solute carrier family 12 (potassium/chloride transporter), member 4	Bumetanide(DB00887)|Potassium Chloride(DB00761)						73	77	76					16																	67981973		2198	4300	6498	SO:0001583	missense	6560				cell volume homeostasis|potassium ion transport|sodium ion transport	integral to plasma membrane|membrane fraction	potassium:chloride symporter activity	g.chr16:67981973T>C		CCDS10855.1, CCDS54030.1, CCDS54031.1, CCDS54032.1	16q22.1	2013-07-18	2013-07-18		ENSG00000124067	ENSG00000124067		"Solute carriers"	10913	protein-coding gene	gene with protein product		604119				8663127	Standard	NM_005072		Approved	KCC1	uc010ceu.2	Q9UP95	OTTHUMG00000137535	ENST00000316341.3:c.1838A>G	16.37:g.67981973T>C	ENSP00000318557:p.Tyr613Cys					SLC12A4_ENST00000316341.3_Missense_Mutation_p.Y613C|SLC12A4_ENST00000338335.3_Missense_Mutation_p.Y613C|SLC12A4_ENST00000572037.1_Missense_Mutation_p.Y565C|SLC12A4_ENST00000576616.1_Missense_Mutation_p.Y613C|SLC12A4_ENST00000537830.2_Missense_Mutation_p.Y607C|SLC12A4_ENST00000541864.2_Missense_Mutation_p.Y582C	p.Y615C	NM_001145962.1	NP_001139434.1	Q9UP95	S12A4_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)	13	1883	-		Ovarian(137;0.192)	613					B4DF69|B4DR04|B4DZ82|B7ZAV0|F5H066|F5H0S9|F5H3C0|O60632|O75893|Q13953|Q96LD5	Missense_Mutation	SNP	ENST00000316341.3	37	c.1844A>G	CCDS10855.1	.	.	.	.	.	.	.	.	.	.	T	28.9	4.963685	0.92791	.	.	ENSG00000124067	ENST00000422611;ENST00000541864;ENST00000537830;ENST00000338335;ENST00000316341	D;D;D;D;D	0.98947	-5.26;-5.26;-5.26;-5.26;-5.26	5.82	5.82	0.92795	Amino acid permease domain (1);	0.000000	0.85682	D	0.000000	D	0.99302	0.9756	M	0.91196	3.185	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;0.999;0.999;0.999	D;D;D;D;D;D	0.85130	0.987;0.992;0.997;0.978;0.978;0.987	D	0.99016	1.0816	10	0.87932	D	0	.	16.1814	0.81903	0.0:0.0:0.0:1.0	.	615;613;582;607;613;613	F5H3C0;B4DF30;F5H066;F5H0S9;Q9UP95-2;Q9UP95	.;.;.;.;.;S12A4_HUMAN	C	615;582;607;613;613	ENSP00000395983:Y615C;ENSP00000438334:Y582C;ENSP00000445962:Y607C;ENSP00000343374:Y613C;ENSP00000318557:Y613C	ENSP00000318557:Y613C	Y	-	2	0	SLC12A4	66539474	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.991000	0.88244	2.234000	0.73211	0.533000	0.62120	TAC		0.602	SLC12A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268864.4	NM_005072		21	126	0	0	0	1	0	21	126					C	67981973	T	C	67981973	3	2	286	1	0	0	0	0	1	0	0	0	14385	1638	57	4	1463	4	SLC12A4	16	67981973	Missense_Mutation	SNP	T	TCGA-J9-A52C-01A-11D-A26M-08	272352	67981973	22372780	518	13648											
SLC12A4	6560	broad.mit.edu	37	chr16	67984313	67984315	+	In_Frame_Del	DEL	AAG	AAG	-																															ggccagcgccacacgttgaaAagaaggagccgatgacgatg																										TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr16:67984313_67984315delAAG	ENST00000316341.3	-	12	1676_1678	c.1536_1538delCTT	c.(1534-1539)ttcttt>ttt	p.512_513FF>F	SLC12A4_ENST00000576616.1_In_Frame_Del_p.512_513FF>F|SLC12A4_ENST00000572010.1_5'Flank|SLC12A4_ENST00000338335.3_In_Frame_Del_p.512_513FF>F|SLC12A4_ENST00000541864.2_In_Frame_Del_p.481_482FF>F|SLC12A4_ENST00000572037.1_In_Frame_Del_p.464_465FF>F|SLC12A4_ENST00000422611.2_In_Frame_Del_p.514_515FF>F|SLC12A4_ENST00000537830.2_In_Frame_Del_p.506_507FF>F	NM_001145961.1|NM_005072.4	NP_001139433.1|NP_005063.1	Q9UP95	S12A4_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 4	512					cell volume homeostasis (GO:0006884)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|potassium ion transport (GO:0006813)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|plasma membrane (GO:0005886)	potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(2)|ovary(2)|prostate(4)|skin(2)|urinary_tract(3)	29		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)	Bumetanide(DB00887)|Potassium Chloride(DB00761)	ACACGTTGAAAAGAAGGAGCCGA	0.621																																						ENST00000422611.2																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(2)|ovary(2)|prostate(4)|skin(2)|urinary_tract(3)	29						c.(1540-1545)ttt>tt		solute carrier family 12 (potassium/chloride transporter), member 4	Bumetanide(DB00887)|Potassium Chloride(DB00761)																																			SO:0001651	inframe_deletion	6560				cell volume homeostasis|potassium ion transport|sodium ion transport	integral to plasma membrane|membrane fraction	potassium:chloride symporter activity	g.chr16:67984313_67984315delAAG		CCDS10855.1, CCDS54030.1, CCDS54031.1, CCDS54032.1	16q22.1	2013-07-18	2013-07-18		ENSG00000124067	ENSG00000124067		"Solute carriers"	10913	protein-coding gene	gene with protein product		604119				8663127	Standard	NM_005072		Approved	KCC1	uc010ceu.2	Q9UP95	OTTHUMG00000137535	ENST00000316341.3:c.1536_1538delCTT	16.37:g.67984316_67984318delAAG	ENSP00000318557:p.Phe513del					SLC12A4_ENST00000537830.2_In_Frame_Del_p.FF506del|SLC12A4_ENST00000316341.3_In_Frame_Del_p.FF512del|SLC12A4_ENST00000572037.1_In_Frame_Del_p.FF464del|SLC12A4_ENST00000541864.2_In_Frame_Del_p.FF481del|SLC12A4_ENST00000576616.1_In_Frame_Del_p.FF512del|SLC12A4_ENST00000338335.3_In_Frame_Del_p.FF512del	p.FF514del	NM_001145962.1	NP_001139434.1	Q9UP95	S12A4_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)	11	1581_1583	-		Ovarian(137;0.192)	512					B4DF69|B4DR04|B4DZ82|B7ZAV0|F5H066|F5H0S9|F5H3C0|O60632|O75893|Q13953|Q96LD5	In_Frame_Del	DEL	ENST00000316341.3	37	c.1542_1544delCTT	CCDS10855.1																																																																																				0.621	SLC12A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268864.4	NM_005072		19	43						19	43	---	---	---	---	-	67984315	AAG	-	67984313	7	5	286	1	0	1	0	1	0	0	0	0	14385	14	1	0	1771	0	SLC12A4	16	67984313	In_Frame_Del	DEL	AAG	TCGA-J9-A52C-01A-11D-A26M-08	2340	67984313	22370440	519	13649											
DHX38	9785	broad.mit.edu	37	chr16	72142749	72142749	+	Frame_Shift_Del	DEL	C	C	-																															gggatgccctgccacttgcaCcccaccagctccctttttgg																										TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr16:72142749delC	ENST00000268482.3	+	24	3815	c.3306delC	c.(3304-3306)cacfs	p.H1102fs	DHX38_ENST00000536867.1_Frame_Shift_Del_p.H414fs	NM_014003.3	NP_054722.2	Q92620	PRP16_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 38	1102					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)			endometrium(5)|kidney(1)|large_intestine(16)|lung(15)|pancreas(1)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	48		Ovarian(137;0.125)				GCCACTTGCACCCCACCAGCT	0.527																																					Melanoma(97;711 1442 7855 13832 28836)	ENST00000268482.3																			0				endometrium(5)|kidney(1)|large_intestine(16)|lung(15)|pancreas(1)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	48						c.(3304-3306)cafs		DEAH (Asp-Glu-Ala-His) box polypeptide 38							83	65	71					16																	72142749		2198	4300	6498	SO:0001589	frameshift_variant	9785				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|nucleoplasm	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding	g.chr16:72142749delC	AF038391	CCDS10907.1	16q22	2008-02-05	2003-06-13	2003-06-20	ENSG00000140829	ENSG00000140829		"DEAH-boxes"	17211	protein-coding gene	gene with protein product		605584	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 38"	DDX38		9524131, 9039502	Standard	NM_014003		Approved	PRP16, KIAA0224, hPrp16, PRPF16	uc002fcb.3	Q92620	OTTHUMG00000137596	ENST00000268482.3:c.3306delC	16.37:g.72142749delC	ENSP00000268482:p.His1102fs					DHX38_ENST00000536867.1_Frame_Shift_Del_p.H414fs	p.H1102fs	NM_014003.3	NP_054722.2	Q92620	PRP16_HUMAN			24	3815	+		Ovarian(137;0.125)	1102					B4DVG8|D3DWS7|O75212|Q96HN7	Frame_Shift_Del	DEL	ENST00000268482.3	37	c.3306delC	CCDS10907.1																																																																																				0.527	DHX38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269004.3	NM_014003		8	36						8	36	---	---	---	---	-	72142749	C	-	72142749	7	5	286	1	0	1	0	1	0	0	0	0	4511	506	18	0	3396	0	DHX38	16	72142749	Frame_Shift_Del	DEL	C	TCGA-J9-A52C-01A-11D-A26M-08	4158436	72142749	18212004	520	13650											
PMFBP1	83449	broad.mit.edu	37	chr16	72157464	72157464	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cttctgctgttttgcccattGctccaagttggtcataatct	6	17	7	11	0	3	0	1	0	2	0	4	0	4	0	2	1	3	4	2	1	2	6			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr16:72157464G>A	ENST00000537792.1	-	2	171	c.172C>T	c.(172-174)Caa>Taa	p.Q58*	PMFBP1_ENST00000537465.1_Nonsense_Mutation_p.Q897*|PMFBP1_ENST00000355636.6_Nonsense_Mutation_p.Q747*|PMFBP1_ENST00000237353.10_Nonsense_Mutation_p.Q892*			Q8TBY8	PMFBP_HUMAN	polyamine modulated factor 1 binding protein 1	897						cytoplasm (GO:0005737)				NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	45		Ovarian(137;0.179)				TTTGCCCATTGCTCCAAGTTG	0.547																																						ENST00000537465.1																			0				NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	45						c.(2689-2691)Caa>Taa		polyamine modulated factor 1 binding protein 1							121	102	108					16																	72157464		2198	4300	6498	SO:0001587	stop_gained	83449							g.chr16:72157464G>A	AF239683	CCDS32483.1	16q23.1	2008-08-04			ENSG00000118557	ENSG00000118557			17728	protein-coding gene	gene with protein product						11468771	Standard	NM_031293		Approved		uc002fcd.3	Q8TBY8	OTTHUMG00000167827	ENST00000537792.1:c.172C>T	16.37:g.72157464G>A	ENSP00000443366:p.Gln58*					PMFBP1_ENST00000537792.1_Nonsense_Mutation_p.Q58*|PMFBP1_ENST00000237353.10_Nonsense_Mutation_p.Q892*|PMFBP1_ENST00000355636.6_Nonsense_Mutation_p.Q747*	p.Q897*			Q8TBY8	PMFBP_HUMAN			18	2847	-		Ovarian(137;0.179)	897					B3KVI9|H7BY07|Q8NA09|Q9BY16|Q9H0H4	Nonsense_Mutation	SNP	ENST00000537792.1	37	c.2689C>T		.	.	.	.	.	.	.	.	.	.	G	43	10.139431	0.99345	.	.	ENSG00000118557	ENST00000537792;ENST00000537465;ENST00000237353;ENST00000355636	.	.	.	4.95	4.95	0.65309	.	0.000000	0.46442	D	0.000294	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06099	T	0.92	-18.1161	13.5707	0.61845	0.0:0.0:1.0:0.0	.	.	.	.	X	58;897;892;747	.	ENSP00000237353:Q892X	Q	-	1	0	PMFBP1	70714965	0.998000	0.40836	1.000000	0.80357	0.531000	0.34715	4.235000	0.58666	2.583000	0.87209	0.650000	0.86243	CAA		0.547	PMFBP1-011	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000396523.1	NM_031293		5	33	0	0	0	1	0	5	33					A	72157464	G	A	72157464	4	1	286	1	0	0	0	0	0	1	0	0	12134	1328	46	3	425	3	PMFBP1	16	72157464	Nonsense_Mutation	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	14715	72157464	18197289	521	13651											
ZFHX3	463	broad.mit.edu	37	chr16	72829811	72829811	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tggcatcgaagaagtcctgtAagaccctcagctggtagtcc	10	9	11	11	1	1	2	1	0	0	2	4	3	3	2	3	2	1	4	3	2	4	2			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr16:72829811A>G	ENST00000268489.5	-	9	7442	c.6770T>C	c.(6769-6771)tTa>tCa	p.L2257S	ZFHX3_ENST00000397992.5_Missense_Mutation_p.L1343S	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	2257					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|muscle organ development (GO:0007517)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of myoblast differentiation (GO:0045663)|regulation of neuron differentiation (GO:0045664)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	enzyme binding (GO:0019899)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				GAAGTCCTGTAAGACCCTCAG	0.493																																						ENST00000268489.5																			0				NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153						c.(6769-6771)tTa>tCa		zinc finger homeobox 3							200	187	191					16																	72829811		2198	4300	6498	SO:0001583	missense	463				muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr16:72829811A>G	D10250	CCDS10908.1, CCDS54035.1	16q22.3	2012-03-09	2007-08-09	2007-08-09	ENSG00000140836	ENSG00000140836		"Zinc fingers, C2H2-type", "Homeoboxes / ZF class"	777	protein-coding gene	gene with protein product		104155	"AT-binding transcription factor 1"	ATBF1		1719379, 7592926	Standard	NM_006885		Approved	ZNF927	uc002fck.3	Q15911	OTTHUMG00000137599	ENST00000268489.5:c.6770T>C	16.37:g.72829811A>G	ENSP00000268489:p.Leu2257Ser					ZFHX3_ENST00000397992.5_Missense_Mutation_p.L1343S	p.L2257S	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN			9	7442	-		Ovarian(137;0.13)	2257					D3DWS8|O15101|Q13719	Missense_Mutation	SNP	ENST00000268489.5	37	c.6770T>C	CCDS10908.1	.	.	.	.	.	.	.	.	.	.	A	15.21	2.767119	0.49574	.	.	ENSG00000140836	ENST00000268489;ENST00000397992	D;D	0.99586	-6.23;-6.23	5.79	5.79	0.91817	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.000000	0.39210	N	0.001434	D	0.99829	0.9923	H	0.98833	4.345	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.96570	0.9422	10	0.87932	D	0	.	16.1193	0.81336	1.0:0.0:0.0:0.0	.	2257	Q15911	ZFHX3_HUMAN	S	2257;1343	ENSP00000268489:L2257S;ENSP00000438926:L1343S	ENSP00000268489:L2257S	L	-	2	0	ZFHX3	71387312	1.000000	0.71417	0.175000	0.22980	0.985000	0.73830	9.339000	0.96797	2.201000	0.70794	0.533000	0.62120	TTA		0.493	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269008.1	NM_006885		19	109	0	0	0	1	0	19	109					G	72829811	A	G	72829811	3	3	286	1	0	0	0	0	1	0	0	0	17631	372	13	4	4349	4	ZFHX3	16	72829811	Missense_Mutation	SNP	A	TCGA-J9-A52C-01A-11D-A26M-08	672347	72829811	17524942	522	13652											
ZFHX3	463	broad.mit.edu	37	chr16	72991758	72991758	+	Frame_Shift_Del	DEL	C	C	-																															agtgtggctgaagacctgctCcccccctccattctgcaggt																										TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr16:72991758delC	ENST00000268489.5	-	2	2959	c.2287delG	c.(2287-2289)gagfs	p.E763fs	ZFHX3_ENST00000397992.5_Intron	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	763					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|muscle organ development (GO:0007517)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of myoblast differentiation (GO:0045663)|regulation of neuron differentiation (GO:0045664)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	enzyme binding (GO:0019899)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				AAGACCTGCTCCCCCCCTCCA	0.622																																						ENST00000268489.5																			0				NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153						c.(2287-2289)agfs		zinc finger homeobox 3							35	37	37					16																	72991758		2198	4300	6498	SO:0001589	frameshift_variant	463				muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr16:72991758delC	D10250	CCDS10908.1, CCDS54035.1	16q22.3	2012-03-09	2007-08-09	2007-08-09	ENSG00000140836	ENSG00000140836		"Zinc fingers, C2H2-type", "Homeoboxes / ZF class"	777	protein-coding gene	gene with protein product		104155	"AT-binding transcription factor 1"	ATBF1		1719379, 7592926	Standard	NM_006885		Approved	ZNF927	uc002fck.3	Q15911	OTTHUMG00000137599	ENST00000268489.5:c.2287delG	16.37:g.72991758delC	ENSP00000268489:p.Glu763fs					ZFHX3_ENST00000397992.5_Intron	p.E763fs	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN			2	2959	-		Ovarian(137;0.13)	763					D3DWS8|O15101|Q13719	Frame_Shift_Del	DEL	ENST00000268489.5	37	c.2287delG	CCDS10908.1																																																																																				0.622	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269008.1	NM_006885		21	41						21	41	---	---	---	---	-	72991758	C	-	72991758	7	5	286	1	0	1	0	1	0	0	0	0	17631	864	30	0	8860	0	ZFHX3	16	72991758	Frame_Shift_Del	DEL	C	TCGA-J9-A52C-01A-11D-A26M-08	161947	72991758	17362995	523	13653											
CHST5	23563	broad.mit.edu	37	chr16	75563937	75563937	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aaagatagagcgcatcaggtCgcgcacggccatgtgcagcg	11	5	14	11	5	1	2	1	0	0	2	2	2	1	2	1	2	3	3	1	2	2	1			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr16:75563937C>T	ENST00000336257.3	-	3	1740	c.346G>A	c.(346-348)Gac>Aac	p.D116N	CHST5_ENST00000541075.1_Missense_Mutation_p.D122N|RP11-77K12.7_ENST00000460606.1_3'UTR	NM_024533.4	NP_078809.2	Q9GZS9	CHST5_HUMAN	carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 5	116					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|N-acetylglucosamine metabolic process (GO:0006044)|protein sulfation (GO:0006477)|small molecule metabolic process (GO:0044281)|sulfur compound metabolic process (GO:0006790)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|intrinsic component of Golgi membrane (GO:0031228)	N-acetylglucosamine 6-O-sulfotransferase activity (GO:0001517)|sulfotransferase activity (GO:0008146)			cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)	24						CGCATCAGGTCGCGCACGGCC	0.612																																						ENST00000336257.3																			0				cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)	24						c.(346-348)Gac>Aac		carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 5							66	57	60					16																	75563937		2198	4300	6498	SO:0001583	missense	23563				N-acetylglucosamine metabolic process|protein sulfation	integral to membrane|intrinsic to Golgi membrane	N-acetylglucosamine 6-O-sulfotransferase activity	g.chr16:75563937C>T	AF176839	CCDS10919.1	16q23.1	2008-02-05			ENSG00000135702	ENSG00000135702		"Sulfotransferases, membrane-bound"	1973	protein-coding gene	gene with protein product		604817				10491328, 11017086	Standard	NM_024533		Approved	I-GLCNAC-6-ST, FLJ22167	uc002fei.3	Q9GZS9	OTTHUMG00000137610	ENST00000336257.3:c.346G>A	16.37:g.75563937C>T	ENSP00000338783:p.Asp116Asn					RP11-77K12.7_ENST00000460606.1_3'UTR|CHST5_ENST00000541075.1_Missense_Mutation_p.D122N	p.D116N	NM_024533.4	NP_078809.2	Q9GZS9	CHST5_HUMAN			3	1740	-			116					B2RV23|Q7LCN3|Q9UBY3	Missense_Mutation	SNP	ENST00000336257.3	37	c.346G>A	CCDS10919.1	.	.	.	.	.	.	.	.	.	.	C	16.99	3.274706	0.59649	.	.	ENSG00000135702	ENST00000336257;ENST00000541075	D;D	0.82344	-1.6;-1.6	2.73	2.73	0.32206	Sulfotransferase domain (1);	0.000000	0.85682	D	0.000000	D	0.89153	0.6634	M	0.74258	2.255	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.88579	0.3135	10	0.41790	T	0.15	.	12.3965	0.55389	0.0:1.0:0.0:0.0	.	122;116	Q9GZS9-2;Q9GZS9	.;CHST5_HUMAN	N	116;122	ENSP00000338783:D116N;ENSP00000441220:D122N	ENSP00000338783:D116N	D	-	1	0	CHST5	74121438	1.000000	0.71417	1.000000	0.80357	0.178000	0.23041	7.349000	0.79376	1.514000	0.48869	0.313000	0.20887	GAC		0.612	CHST5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269025.2	NM_012126		13	60	0	0	0	1	0	13	60					T	75563937	C	T	75563937	3	4	286	1	0	0	0	0	1	0	0	0	3407	884	31	2	893	2	CHST5	16	75563937	Missense_Mutation	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	2572179	75563937	14790816	524	13654											
ADAMTS18	170692	broad.mit.edu	37	chr16	77401347	77401347	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccttacatacatttcttgcGtcgtccacaaaaatgctgct	10	14	5	12	2	1	0	0	0	1	0	4	0	3	0	2	0	5	2	2	0	4	4			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr16:77401347G>A	ENST00000282849.5	-	4	1187	c.769C>T	c.(769-771)Cgc>Tgc	p.R257C	ADAMTS18_ENST00000567121.1_5'Flank	NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 18	257					eye development (GO:0001654)|negative regulation of platelet aggregation (GO:0090331)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						CATTTCTTGCGTCGTCCACAA	0.443																																						ENST00000282849.5																			0				NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						c.(769-771)Cgc>Tgc		ADAM metallopeptidase with thrombospondin type 1 motif, 18							78	77	77					16																	77401347		2198	4300	6498	SO:0001583	missense	170692				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr16:77401347G>A	AJ311903	CCDS10926.1	16q23	2008-07-29	2005-08-19		ENSG00000140873	ENSG00000140873		"ADAM metallopeptidases with thrombospondin type 1 motif"	17110	protein-coding gene	gene with protein product		607512	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 18"	ADAMTS21		11867212, 17546048	Standard	NM_199355		Approved		uc002ffc.4	Q8TE60	OTTHUMG00000137619	ENST00000282849.5:c.769C>T	16.37:g.77401347G>A	ENSP00000282849:p.Arg257Cys						p.R257C	NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN			4	1187	-			257					Q6P4R5|Q6ZWJ9	Missense_Mutation	SNP	ENST00000282849.5	37	c.769C>T	CCDS10926.1	.	.	.	.	.	.	.	.	.	.	G	23.6	4.438715	0.83885	.	.	ENSG00000140873	ENST00000282849;ENST00000449265	T;T	0.61742	0.08;2.07	4.99	4.01	0.46588	.	0.000000	0.85682	D	0.000000	T	0.75554	0.3865	M	0.78049	2.395	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.79690	-0.1698	10	0.87932	D	0	.	14.3429	0.66641	0.0:0.1491:0.8509:0.0	.	257	Q8TE60	ATS18_HUMAN	C	257	ENSP00000282849:R257C;ENSP00000392540:R257C	ENSP00000282849:R257C	R	-	1	0	ADAMTS18	75958848	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.039000	0.70972	1.276000	0.44395	0.555000	0.69702	CGC		0.443	ADAMTS18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269037.1			7	43	0	0	0	1	0	7	43					A	77401347	G	A	77401347	3	1	286	1	0	0	0	0	1	0	0	0	263	1145	40	1	2976	1	ADAMTS18	16	77401347	Missense_Mutation	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	1837410	77401347	12953406	525	13655											
MBTPS1	8720	broad.mit.edu	37	chr16	84104352	84104352	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcaacttcaatgttgtctccGttctgtggcaaatagggctg	8	13	11	9	1	3	0	1	0	2	0	4	0	3	0	1	2	1	5	1	2	4	4	rs141003439		TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr16:84104352G>A	ENST00000343411.3	-	13	2118	c.1623C>T	c.(1621-1623)aaC>aaT	p.N541N	MBTPS1_ENST00000569770.1_5'UTR	NM_003791.2	NP_003782.1	Q14703	MBTP1_HUMAN	membrane-bound transcription factor peptidase, site 1	541					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|cholesterol metabolic process (GO:0008203)|endoplasmic reticulum unfolded protein response (GO:0030968)|lipid metabolic process (GO:0006629)|lysosome organization (GO:0007040)|proteolysis (GO:0006508)|regulation of transcription factor import into nucleus (GO:0042990)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum lumen (GO:0005788)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)	serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(10)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						TGTTGTCTCCGTTCTGTGGCA	0.493																																						ENST00000343411.3																			0				NS(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(10)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						c.(1621-1623)aaC>aaT		membrane-bound transcription factor peptidase, site 1		G		0,4400		0,0,2200	72	63	66		1623	-4.2	0.9	16	dbSNP_134	66	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	MBTPS1	NM_003791.2		0,2,6498	AA,AG,GG		0.0233,0.0,0.0154		541/1053	84104352	2,12998	2200	4300	6500	SO:0001819	synonymous_variant	8720				cholesterol metabolic process|proteolysis	endoplasmic reticulum lumen|endoplasmic reticulum membrane|Golgi membrane|integral to membrane	serine-type endopeptidase activity	g.chr16:84104352G>A	D42053	CCDS10941.1	16q24	2008-08-04	2005-08-17		ENSG00000140943	ENSG00000140943			15456	protein-coding gene	gene with protein product		603355	"membrane-bound transcription factor protease, site 1"			9809072, 10944850	Standard	NM_003791		Approved	S1P, KIAA0091, SKI-1, PCSK8	uc002fhi.3	Q14703	OTTHUMG00000137639	ENST00000343411.3:c.1623C>T	16.37:g.84104352G>A						MBTPS1_ENST00000569770.1_5'UTR	p.N541N	NM_003791.2	NP_003782.1	Q14703	MBTP1_HUMAN			13	2118	-			541					A8K6V8|Q24JQ2|Q9UF67	Silent	SNP	ENST00000343411.3	37	c.1623C>T	CCDS10941.1																																																																																				0.493	MBTPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269080.2	NM_003791		13	53	0	0	0	1	0	13	53					A	84104352	G	A	84104352	2	1	286	1	0	0	0	0	0	0	0	1	9361	1136	40	1		1	MBTPS1	16	84104352	Silent	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	6703005	84104352	6250401	526	13656											
TAF1C	9013	broad.mit.edu	37	chr16	84215231	84215231	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tccacaggcagacggctcccGagcggctgcagatggccagc	8	4	14	15	3	0	2	0	0	0	2	2	3	2	2	3	4	3	4	3	4	0	0			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr16:84215231G>A	ENST00000567759.1	-	9	1255	c.1073C>T	c.(1072-1074)tCg>tTg	p.S358L	TAF1C_ENST00000541676.1_Missense_Mutation_p.S265L|TAF1C_ENST00000378541.4_Missense_Mutation_p.S358L|TAF1C_ENST00000570117.1_Missense_Mutation_p.S26L|TAF1C_ENST00000566732.1_Missense_Mutation_p.S332L|TAF1C_ENST00000341690.6_Missense_Mutation_p.S265L	NM_005679.3	NP_005670	Q15572	TAF1C_HUMAN	TATA box binding protein (TBP)-associated factor, RNA polymerase I, C, 110kDa	358					gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase I promoter (GO:0006361)	nucleoplasm (GO:0005654)	DNA binding (GO:0003677)			endometrium(1)|kidney(3)|large_intestine(3)|lung(11)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	26						GACGGCTCCCGAGCGGCTGCA	0.657																																						ENST00000567759.1																			0				endometrium(1)|kidney(3)|large_intestine(3)|lung(11)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	26						c.(1072-1074)tCg>tTg		TATA box binding protein (TBP)-associated factor, RNA polymerase I, C, 110kDa							30	33	32					16																	84215231		2199	4300	6499	SO:0001583	missense	9013				regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter	nucleoplasm	DNA binding	g.chr16:84215231G>A	L39059	CCDS32496.1, CCDS45535.1, CCDS58488.1, CCDS58489.1	16q24	2008-02-05	2002-08-29			ENSG00000103168			11534	protein-coding gene	gene with protein product		604905	"TATA box binding protein (TBP)-associated factor, RNA polymerase I, C, 110kD"			7801123	Standard	NM_005679		Approved	TAFI110, TAFI95, SL1, MGC:39976	uc010vnx.2	Q15572		ENST00000567759.1:c.1073C>T	16.37:g.84215231G>A	ENSP00000455265:p.Ser358Leu					TAF1C_ENST00000541676.1_Missense_Mutation_p.S265L|TAF1C_ENST00000341690.6_Missense_Mutation_p.S265L|TAF1C_ENST00000570117.1_Missense_Mutation_p.S26L|TAF1C_ENST00000378541.4_Missense_Mutation_p.S358L|TAF1C_ENST00000566732.1_Missense_Mutation_p.S332L	p.S358L	NM_005679.3	NP_005670.3	Q15572	TAF1C_HUMAN			9	1255	-			358					B7Z5K5|B7Z5S4|B7Z908|B7Z9L7|Q59F67|Q8N6V3	Missense_Mutation	SNP	ENST00000567759.1	37	c.1073C>T	CCDS32496.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.091484	0.76756	.	.	ENSG00000103168	ENST00000378541;ENST00000541676;ENST00000341690;ENST00000537450	T;T;T	0.67865	1.51;-0.29;-0.29	4.52	4.52	0.55395	WD40/YVTN repeat-like-containing domain (1);	0.305329	0.23981	N	0.042662	T	0.79505	0.4457	M	0.70595	2.14	0.20563	N	0.999882	D;D;D;D	0.89917	0.998;1.0;1.0;1.0	D;D;D;D	0.83275	0.986;0.995;0.996;0.995	T	0.70813	-0.4770	10	0.66056	D	0.02	-21.529	12.629	0.56646	0.0:0.0:1.0:0.0	.	332;332;358;265	F5H7W6;Q15572-6;Q15572;Q15572-2	.;.;TAF1C_HUMAN;.	L	358;265;265;332	ENSP00000367802:S358L;ENSP00000437900:S265L;ENSP00000345305:S265L	ENSP00000345305:S265L	S	-	2	0	TAF1C	82772732	0.981000	0.34729	0.337000	0.25536	0.917000	0.54804	4.120000	0.57897	2.340000	0.79590	0.561000	0.74099	TCG		0.657	TAF1C-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000433045.2	NM_139353		9	24	0	0	0	1	0	9	24					A	84215231	G	A	84215231	3	1	286	1	0	0	0	0	1	0	0	0	15518	1059	37	2	1560	2	TAF1C	16	84215231	Missense_Mutation	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	110879	84215231	6139522	527	13657											
ANKRD11	29123	broad.mit.edu	37	chr16	89337296	89337296	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcgggcgttgaaacggtcgcGcactgacttgttctcgtcac	6	10	13	12	6	2	2	1	2	1	0	4	2	2	2	0	2	1	3	0	2	1	3			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr16:89337296G>A	ENST00000301030.4	-	12	8195	c.7735C>T	c.(7735-7737)Cgc>Tgc	p.R2579C	AC137932.1_ENST00000602042.1_3'UTR|ANKRD11_ENST00000378330.2_Missense_Mutation_p.R2579C	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	2579					bone development (GO:0060348)|face morphogenesis (GO:0060325)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|odontogenesis of dentin-containing tooth (GO:0042475)|skeletal system morphogenesis (GO:0048705)|tissue homeostasis (GO:0001894)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		AAACGGTCGCGCACTGACTTG	0.597																																						ENST00000301030.4																			0				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83						c.(7735-7737)Cgc>Tgc		ankyrin repeat domain 11							82	65	71					16																	89337296		2198	4300	6498	SO:0001583	missense	29123					nucleus		g.chr16:89337296G>A	AY373756	CCDS32513.1	16q24.3	2013-01-10				ENSG00000167522		"Ankyrin repeat domain containing"	21316	protein-coding gene	gene with protein product		611192				11483580	Standard	NM_001256182		Approved	LZ16, T13	uc002fnc.2	Q6UB99		ENST00000301030.4:c.7735C>T	16.37:g.89337296G>A	ENSP00000301030:p.Arg2579Cys					AC137932.1_ENST00000602042.1_3'UTR|ANKRD11_ENST00000378330.2_Missense_Mutation_p.R2579C	p.R2579C	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)	12	8195	-		all_hematologic(23;0.00824)|Colorectal(91;0.0475)	2579					Q6NTG1|Q6QMF8	Missense_Mutation	SNP	ENST00000301030.4	37	c.7735C>T	CCDS32513.1	.	.	.	.	.	.	.	.	.	.	G	18.84	3.709088	0.68615	.	.	ENSG00000167522	ENST00000301030;ENST00000378330	T;T	0.53857	0.6;0.6	4.53	1.02	0.19986	.	0.000000	0.64402	D	0.000010	T	0.71837	0.3387	M	0.84326	2.69	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.76599	-0.2900	10	0.87932	D	0	.	13.5863	0.61933	0.0:0.0:0.5092:0.4908	.	2579	Q6UB99	ANR11_HUMAN	C	2579	ENSP00000301030:R2579C;ENSP00000367581:R2579C	ENSP00000301030:R2579C	R	-	1	0	ANKRD11	87864797	1.000000	0.71417	0.346000	0.25655	0.897000	0.52465	2.094000	0.41719	0.399000	0.25367	0.484000	0.47621	CGC		0.597	ANKRD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430462.3	NM_013275		6	26	0	0	0	1	0	6	26					A	89337296	G	A	89337296	3	1	286	1	0	0	0	0	1	0	0	0	639	1087	38	1	264	1	ANKRD11	16	89337296	Missense_Mutation	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	5122065	89337296	1017457	528	13658											
ANKRD11	29123	broad.mit.edu	37	chr16	89349355	89349356	+	Frame_Shift_Ins	INS	-	-	T																															tgcttttcaaagactttctcINSttttttgtctctccccgcgt																										TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr16:89349355_89349356insT	ENST00000301030.4	-	9	4054_4055	c.3594_3595insA	c.(3592-3597)aaagagfs	p.E1199fs	ANKRD11_ENST00000378330.2_Frame_Shift_Ins_p.E1199fs	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	1199	Lys-rich.				bone development (GO:0060348)|face morphogenesis (GO:0060325)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|odontogenesis of dentin-containing tooth (GO:0042475)|skeletal system morphogenesis (GO:0048705)|tissue homeostasis (GO:0001894)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		AAGACTTTCTCTTTTTTGTCTC	0.515																																						ENST00000301030.4																			0				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83						c.(3592-3597)aaagaafs		ankyrin repeat domain 11																																				SO:0001589	frameshift_variant	29123					nucleus		g.chr16:89349355_89349356insT	AY373756	CCDS32513.1	16q24.3	2013-01-10				ENSG00000167522		"Ankyrin repeat domain containing"	21316	protein-coding gene	gene with protein product		611192				11483580	Standard	NM_001256182		Approved	LZ16, T13	uc002fnc.2	Q6UB99		ENST00000301030.4:c.3595dupA	16.37:g.89349361_89349361dupT	ENSP00000301030:p.Glu1199fs					ANKRD11_ENST00000378330.2_Frame_Shift_Ins_p.E1199fs	p.E1199fs	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)	9	4054_4055	-		all_hematologic(23;0.00824)|Colorectal(91;0.0475)	1199			Lys-rich.		Q6NTG1|Q6QMF8	Frame_Shift_Ins	INS	ENST00000301030.4	37	c.3594_3595insA	CCDS32513.1																																																																																				0.515	ANKRD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430462.3	NM_013275		16	100						16	100	---	---	---	---	T	89349356	-	T	89349355	7	5	286	1	0	1	1	0	0	0	0	0	639	922	32	0	4416	0	ANKRD11	16	89349355	Frame_Shift_Ins	INS	-	TCGA-J9-A52C-01A-11D-A26M-08	12059	89349355	1005398	529	13659											
ANKRD11	29123	broad.mit.edu	37	chr16	89350061	89350061	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctcgggcttggccctgccGtccctgcgctccttgcagct	1	11	11	18	3	0	0	0	0	0	0	4	0	3	0	5	2	4	4	5	2	0	2	rs139955323		TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr16:89350061G>A	ENST00000301030.4	-	9	3349	c.2889C>T	c.(2887-2889)gaC>gaT	p.D963D	ANKRD11_ENST00000378330.2_Silent_p.D963D	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	963	Lys-rich.				bone development (GO:0060348)|face morphogenesis (GO:0060325)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|odontogenesis of dentin-containing tooth (GO:0042475)|skeletal system morphogenesis (GO:0048705)|tissue homeostasis (GO:0001894)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		TGGCCCTGCCGTCCCTGCGCT	0.647													G|||	1	0.000199681	0	0	5008	,	,		17514	0		0	False		,,,				2504	0.001					ENST00000301030.4																			0				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83						c.(2887-2889)gaC>gaT		ankyrin repeat domain 11		G		0,4396		0,0,2198	82	86	85		2889	-10.5	0	16	dbSNP_134	85	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	ANKRD11	NM_013275.4		0,1,6497	AA,AG,GG		0.0116,0.0,0.0077		963/2664	89350061	1,12995	2198	4300	6498	SO:0001819	synonymous_variant	29123					nucleus		g.chr16:89350061G>A	AY373756	CCDS32513.1	16q24.3	2013-01-10				ENSG00000167522		"Ankyrin repeat domain containing"	21316	protein-coding gene	gene with protein product		611192				11483580	Standard	NM_001256182		Approved	LZ16, T13	uc002fnc.2	Q6UB99		ENST00000301030.4:c.2889C>T	16.37:g.89350061G>A						ANKRD11_ENST00000378330.2_Silent_p.D963D	p.D963D	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)	9	3349	-		all_hematologic(23;0.00824)|Colorectal(91;0.0475)	963			Lys-rich.		Q6NTG1|Q6QMF8	Silent	SNP	ENST00000301030.4	37	c.2889C>T	CCDS32513.1																																																																																				0.647	ANKRD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430462.3	NM_013275		26	106	0	0	0	1	0	26	106					A	89350061	G	A	89350061	2	1	286	1	0	0	0	0	0	0	0	1	639	1136	40	1		1	ANKRD11	16	89350061	Silent	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	706	89350061	1004692	530	13660											
ABR	29	broad.mit.edu	37	chr17	915194	915194	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cacctcctccacacactgccGgacgatgtagggcaccttgg	8	7	10	16	2	0	0	0	0	0	0	2	2	2	1	5	3	1	2	5	3	1	2			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr17:915194G>A	ENST00000302538.5	-	19	2139	c.1993C>T	c.(1993-1995)Cgg>Tgg	p.R665W	ABR_ENST00000291107.2_Missense_Mutation_p.R628W|ABR_ENST00000572441.1_Missense_Mutation_p.R116W|ABR_ENST00000543210.2_Missense_Mutation_p.R116W|ABR_ENST00000536794.2_Missense_Mutation_p.R447W|ABR_ENST00000544583.2_Missense_Mutation_p.R619W|ABR_ENST00000574437.1_Missense_Mutation_p.R619W	NM_001282149.1|NM_021962.3	NP_001269078.1|NP_068781.2	Q12979	ABR_HUMAN	active BCR-related	665	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|brain development (GO:0007420)|inner ear morphogenesis (GO:0042472)|negative regulation of cell migration (GO:0030336)|negative regulation of inflammatory response (GO:0050728)|negative regulation of neutrophil degranulation (GO:0043314)|neuromuscular process controlling balance (GO:0050885)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of phagocytosis (GO:0050766)|regulation of small GTPase mediated signal transduction (GO:0051056)|response to lipopolysaccharide (GO:0032496)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|Rac GTPase activator activity (GO:0030675)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39				UCEC - Uterine corpus endometrioid carcinoma (25;0.0228)		ACACACTGCCGGACGATGTAG	0.652																																					Esophageal Squamous(197;2016 2115 4129 29033 46447)	ENST00000544583.2																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39						c.(1855-1857)Cgg>Tgg		active BCR-related							186	142	157					17																	915194		2203	4300	6503	SO:0001583	missense	29				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr17:915194G>A	L19704	CCDS10999.1, CCDS11000.1, CCDS54060.1, CCDS58497.1, CCDS73936.1	17p13	2013-01-10	2012-02-27		ENSG00000159842	ENSG00000159842		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	81	protein-coding gene	gene with protein product		600365	"active BCR-related gene"			2587217, 7479768	Standard	NM_001092		Approved	MDB	uc002fsd.4	Q12979	OTTHUMG00000090313	ENST00000302538.5:c.1993C>T	17.37:g.915194G>A	ENSP00000303909:p.Arg665Trp					ABR_ENST00000543210.2_Missense_Mutation_p.R116W|ABR_ENST00000572441.1_Missense_Mutation_p.R116W|ABR_ENST00000536794.2_Missense_Mutation_p.R447W|ABR_ENST00000574437.1_Missense_Mutation_p.R619W|ABR_ENST00000302538.5_Missense_Mutation_p.R665W|ABR_ENST00000291107.2_Missense_Mutation_p.R628W	p.R619W	NM_001159746.2	NP_001153218.1	Q12979	ABR_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.0228)	19	2454	-			665					B3KW89|B7Z6H7|D3DTH3|D3DTH4|F5H3S2|F5H8B3|Q13693|Q13694	Missense_Mutation	SNP	ENST00000302538.5	37	c.1855C>T	CCDS10999.1	.	.	.	.	.	.	.	.	.	.	G	31	5.101497	0.94245	.	.	ENSG00000159842	ENST00000302538;ENST00000544583;ENST00000291107;ENST00000536794;ENST00000543210	T;T;T;T;T	0.20200	2.09;2.09;2.09;2.09;2.09	5.97	5.97	0.96955	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	0.262584	0.38058	N	0.001825	T	0.50411	0.1614	M	0.78285	2.405	0.44539	D	0.997495	D;D;D;D;D	0.76494	0.999;0.999;0.998;0.999;0.999	D;P;P;D;D	0.72625	0.978;0.825;0.859;0.968;0.968	T	0.47459	-0.9116	10	0.66056	D	0.02	.	19.057	0.93069	0.0:0.0:1.0:0.0	.	447;116;628;575;665	B7Z683;F5H3S2;Q12979-2;B7Z2X0;Q12979	.;.;.;.;ABR_HUMAN	W	665;619;628;447;116	ENSP00000303909:R665W;ENSP00000442048:R619W;ENSP00000291107:R628W;ENSP00000437429:R447W;ENSP00000445198:R116W	ENSP00000291107:R628W	R	-	1	2	ABR	861944	1.000000	0.71417	0.997000	0.53966	0.998000	0.95712	5.737000	0.68606	2.851000	0.98039	0.644000	0.83932	CGG		0.652	ABR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206675.4			12	87	0	0	0	1	0	12	87					A	915194	G	A	915194	3	1	286	1	0	0	0	0	1	0	0	0	99	1115	39	2	606	2	ABR	17	915194	Missense_Mutation	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08		915194	80280016	531	13661											
CHRNE	1145	broad.mit.edu	37	chr17	4805274	4805274	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgaaggggaagtaggtgacCtccactgcgcagacgctgcg	9	6	15	11	4	0	2	0	1	0	1	2	4	1	3	2	3	2	3	2	3	3	1			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr17:4805274C>A	ENST00000293780.4	-	5	463	c.453G>T	c.(451-453)gaG>gaT	p.E151D	CHRNE_ENST00000575637.1_5'UTR|C17orf107_ENST00000381365.3_3'UTR	NM_000080.3	NP_000071.1	Q04844	ACHE_HUMAN	cholinergic receptor, nicotinic, epsilon (muscle)	151					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|muscle contraction (GO:0006936)|regulation of membrane potential (GO:0042391)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, cholinergic (GO:0007271)|transport (GO:0006810)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|cation transmembrane transporter activity (GO:0008324)			central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|lung(3)|prostate(1)	12					Galantamine(DB00674)	AGTAGGTGACCTCCACTGCGC	0.617																																						ENST00000293780.4																			0				central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|lung(3)|prostate(1)	12						c.(451-453)gaG>gaT		cholinergic receptor, nicotinic, epsilon (muscle)							63	62	62					17																	4805274		2203	4300	6503	SO:0001583	missense	1145				muscle contraction|synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity	g.chr17:4805274C>A	X66403	CCDS11058.1	17p13.2	2012-02-11	2012-02-07		ENSG00000108556	ENSG00000108556		"Cholinergic receptors", "Ligand-gated ion channels / Acetylcholine receptors, nicotinic"	1966	protein-coding gene	gene with protein product	"acetylcholine receptor, nicotinic, epsilon (muscle)"	100725	"cholinergic receptor, nicotinic, epsilon"			7688301	Standard	NM_000080		Approved	ACHRE	uc002fzk.1	Q04844	OTTHUMG00000090778	ENST00000293780.4:c.453G>T	17.37:g.4805274C>A	ENSP00000293780:p.Glu151Asp					CHRNE_ENST00000575637.1_5'UTR|C17orf107_ENST00000381365.3_3'UTR	p.E151D	NM_000080.3	NP_000071.1	Q04844	ACHE_HUMAN			5	463	-			151					D3DTK6	Missense_Mutation	SNP	ENST00000293780.4	37	c.453G>T	CCDS11058.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.025699	0.75390	.	.	ENSG00000108556	ENST00000293780	T	0.73681	-0.77	4.78	1.64	0.23874	Neurotransmitter-gated ion-channel ligand-binding (3);Neurotransmitter-gated ion-channel, conserved site (1);	0.000000	0.85682	D	0.000000	T	0.64382	0.2593	N	0.03967	-0.31	0.80722	D	1	D	0.76494	0.999	D	0.67231	0.95	T	0.63457	-0.6633	10	0.38643	T	0.18	.	8.5491	0.33440	0.0:0.7315:0.0:0.2685	.	151	Q04844	ACHE_HUMAN	D	151	ENSP00000293780:E151D	ENSP00000293780:E151D	E	-	3	2	CHRNE	4746053	0.292000	0.24362	1.000000	0.80357	0.974000	0.67602	-0.389000	0.07342	0.637000	0.30526	0.561000	0.74099	GAG		0.617	CHRNE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207560.3			16	62	1	0	1.5739e-10	1	1.61613e-10	16	62					A	4805274	C	A	4805274	3	1	286	1	0	0	0	0	1	0	0	0	3395	680	24	5	1060	5	CHRNE	17	4805274	Missense_Mutation	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	3890080	4805274	76389936	532	13662											
USP6	9098	broad.mit.edu	37	chr17	5041502	5041502	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggccatgaacgatgacaccGtgctcaagcatcttagggcc	10	7	12	12	2	2	2	1	2	1	0	2	3	2	2	3	2	3	2	3	2	3	1	rs201324904		TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr17:5041502G>A	ENST00000574788.1	+	21	3242	c.1012G>A	c.(1012-1014)Gtg>Atg	p.V338M	USP6_ENST00000250066.6_Missense_Mutation_p.V338M|USP6_ENST00000304328.5_5'UTR|USP6_ENST00000332776.4_Missense_Mutation_p.V338M			P35125	UBP6_HUMAN	ubiquitin specific peptidase 6	338					cellular protein modification process (GO:0006464)|protein deubiquitination (GO:0016579)|regulation of vesicle-mediated transport (GO:0060627)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	calmodulin binding (GO:0005516)|cysteine-type endopeptidase activity (GO:0004197)|nucleic acid binding (GO:0003676)|Rab GTPase activator activity (GO:0005097)|ubiquitin-specific protease activity (GO:0004843)	p.V338M(2)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						CGATGACACCGTGCTCAAGCA	0.582			T	"COL1A1, CDH11, ZNF9, OMD"	aneurysmal bone cysts								G|||	1	0.000199681	0	0.0014	5008	,	,		20107	0		0	False		,,,				2504	0					ENST00000574788.1				Dom	yes		17	17p13	9098	T	ubiquitin specific peptidase 6 (Tre-2 oncogene)			M	"COL1A1, CDH11, ZNF9, OMD"		aneurysmal bone cysts		2	Substitution - Missense(2)	p.V338M(2)	lung(2)	breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						c.(1012-1014)Gtg>Atg		ubiquitin specific peptidase 6 (Tre-2 oncogene)							142	140	141					17																	5041502		2203	4300	6503	SO:0001583	missense	9098				protein deubiquitination|regulation of vesicle-mediated transport|ubiquitin-dependent protein catabolic process	lysosome|plasma membrane|recycling endosome	calmodulin binding|cysteine-type endopeptidase activity|nucleic acid binding|protein binding|Rab GTPase activator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr17:5041502G>A	X63547	CCDS11069.2	17p13	2014-06-12	2014-06-12		ENSG00000129204	ENSG00000129204	3.4.19.12	"Ubiquitin-specific peptidases"	12629	protein-coding gene	gene with protein product	"ubiquitin carboxyl-terminal hydrolase 6", "TBC1D3 and USP32 fusion", "Tre-2 oncogene"	604334	"ubiquitin specific protease 6 (Tre-2 oncogene)", "TRE oncogene, Smith Magenis syndrome chromosome region", "ubiquitin specific peptidase 6 (Tre-2 oncogene)"	HRP1, TRESMCR		12838346, 1349106	Standard	NM_004505		Approved	Tre-2, TRE17, Tre2	uc002gav.1	P35125	OTTHUMG00000099449	ENST00000574788.1:c.1012G>A	17.37:g.5041502G>A	ENSP00000460380:p.Val338Met					USP6_ENST00000304328.5_5'UTR|USP6_ENST00000250066.6_Missense_Mutation_p.V338M|USP6_ENST00000332776.4_Missense_Mutation_p.V338M	p.V338M			P35125	UBP6_HUMAN			21	3242	+			338					Q15634|Q86WP6|Q8IWT4	Missense_Mutation	SNP	ENST00000574788.1	37	c.1012G>A	CCDS11069.2	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	14.68	2.607374	0.46527	.	.	ENSG00000129204	ENST00000332776;ENST00000250066	T;T	0.24723	1.84;1.84	0.862	0.862	0.19056	Rab-GAP/TBC domain (1);	0.106620	0.64402	D	0.000006	T	0.33265	0.0857	L	0.52364	1.645	0.80722	D	1	D	0.65815	0.995	P	0.60068	0.868	T	0.06734	-1.0810	10	0.87932	D	0	.	5.4	0.16291	0.0:0.0:1.0:0.0	.	338	P35125	UBP6_HUMAN	M	338	ENSP00000328010:V338M;ENSP00000250066:V338M	ENSP00000250066:V338M	V	+	1	0	USP6	4982226	0.003000	0.15002	0.116000	0.21606	0.117000	0.20001	0.353000	0.20130	0.132000	0.18615	0.134000	0.15878	GTG		0.582	USP6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438990.1	NM_004505		30	131	0	0	0	1	0	30	131					A	5041502	G	A	5041502	3	1	286	1	0	0	0	0	1	0	0	0	17083	1145	40	1	1058	1	USP6	17	5041502	Missense_Mutation	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	236228	5041502	76153708	533	13663											
NEURL4	84461	broad.mit.edu	37	chr17	7221199	7221199	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tcgtctcctcgcagcttccgGcaagactcacagtagcacag	9	8	9	15	3	2	1	1	0	1	1	6	1	3	1	2	1	2	5	2	1	2	2			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr17:7221199G>A	ENST00000399464.2	-	26	4128	c.4113C>T	c.(4111-4113)tgC>tgT	p.C1371C	NEURL4_ENST00000574120.1_5'UTR|GPS2_ENST00000391950.3_5'Flank|GPS2_ENST00000380728.2_5'Flank|GPS2_ENST00000389167.5_5'Flank|NEURL4_ENST00000315614.7_Silent_p.C1369C|RP11-542C16.2_ENST00000575474.1_Missense_Mutation_p.A185V|NEURL4_ENST00000570460.1_Silent_p.C1347C	NM_032442.2	NP_115818.2	Q96JN8	NEUL4_HUMAN	neuralized E3 ubiquitin protein ligase 4	1371						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						GCAGCTTCCGGCAAGACTCAC	0.587																																						ENST00000575474.1																			0											c.(553-555)gCc>gTc									57	61	60					17																	7221199		2105	4232	6337	SO:0001819	synonymous_variant	0							g.chr17:7221199G>A		CCDS42251.1, CCDS42252.1	17p13	2013-10-24	2013-10-24		ENSG00000215041	ENSG00000215041			34410	protein-coding gene	gene with protein product		615865	"neuralized homolog 4 (Drosophila)"			22261722, 22441691	Standard	NM_001005408		Approved	KIAA1787	uc002gga.1	Q96JN8	OTTHUMG00000132319	ENST00000399464.2:c.4113C>T	17.37:g.7221199G>A						NEURL4_ENST00000399464.2_Silent_p.C1371C|NEURL4_ENST00000570460.1_Silent_p.C1347C|NEURL4_ENST00000315614.7_Silent_p.C1369C|NEURL4_ENST00000574120.1_5'UTR	p.A185V							5	553	-								Q6GPI8|Q96IU9|Q9H0B0	Missense_Mutation	SNP	ENST00000399464.2	37	c.554C>T	CCDS42251.1																																																																																				0.587	NEURL4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255434.2	NM_032442		12	73	0	0	0	1	0	12	73					A	7221199	G	A	7221199	2	1	286	1	0	0	0	0	0	0	0	1	10347	1195	42	3		3	NEURL4	17	7221199	Silent	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	2179697	7221199	73974011	534	13664											
C17orf74	201243	broad.mit.edu	37	chr17	7329864	7329864	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaggacccggattcctaccTggaggaggaggacaacctgc	10	5	15	11	1	0	0	0	0	0	0	1	7	1	7	4	7	3	0	4	7	2	2	rs566851338	byFrequency	TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr17:7329864T>C	ENST00000333870.3	+	3	628	c.554T>C	c.(553-555)cTg>cCg	p.L185P	C17orf74_ENST00000574034.1_Silent_p.P72P|RP11-104H15.7_ENST00000575310.1_RNA	NM_175734.4	NP_783861.3	Q0P670	CQ074_HUMAN	chromosome 17 open reading frame 74	185						integral component of membrane (GO:0016021)				cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	22		Prostate(122;0.157)				GATTCCTACCTGGAGGAGGAG	0.587																																						ENST00000333870.3																			0				cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	22						c.(553-555)cTg>cCg		chromosome 17 open reading frame 74							139	144	143					17																	7329864		2005	4157	6162	SO:0001583	missense	201243					integral to membrane		g.chr17:7329864T>C	BC044816	CCDS42255.1	17p13.1	2012-05-30			ENSG00000184560	ENSG00000184560			27315	protein-coding gene	gene with protein product						12477932	Standard	NM_175734		Approved		uc002ggw.3	Q0P670	OTTHUMG00000178190	ENST00000333870.3:c.554T>C	17.37:g.7329864T>C	ENSP00000328061:p.Leu185Pro					RP11-104H15.7_ENST00000575310.1_RNA|C17orf74_ENST00000574034.1_Silent_p.P72P	p.L185P	NM_175734.4	NP_783861.3	Q0P670	CQ074_HUMAN			3	628	+		Prostate(122;0.157)	185						Missense_Mutation	SNP	ENST00000333870.3	37	c.554T>C	CCDS42255.1	.	.	.	.	.	.	.	.	.	.	T	12.89	2.074655	0.36566	.	.	ENSG00000184560	ENST00000333870	T	0.52754	0.65	3.79	0.143	0.14820	.	0.667620	0.11583	N	0.549520	T	0.30978	0.0782	L	0.27053	0.805	0.09310	N	1	B	0.17667	0.023	B	0.18263	0.021	T	0.21109	-1.0255	10	0.46703	T	0.11	-10.9008	6.1778	0.20453	0.0:0.3374:0.0:0.6626	.	185	Q0P670	CQ074_HUMAN	P	185	ENSP00000328061:L185P	ENSP00000328061:L185P	L	+	2	0	C17orf74	7270588	0.011000	0.17503	0.002000	0.10522	0.023000	0.10783	-0.026000	0.12392	-0.118000	0.11851	0.402000	0.26972	CTG		0.587	C17orf74-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440933.2	NM_175734		16	99	0	0	0	1	0	16	99					C	7329864	T	C	7329864	3	2	286	1	0	0	0	0	1	0	0	0	1879	1580	55	4	564	4	C17orf74	17	7329864	Missense_Mutation	SNP	T	TCGA-J9-A52C-01A-11D-A26M-08	108665	7329864	73865346	535	13665											
POLR2A	5430	broad.mit.edu	37	chr17	7405400	7405400	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttccacgccatggggggtcGtgaggggctcattgacacgg	6	9	16	10	3	1	2	1	2	0	0	3	2	2	2	2	6	0	1	2	6	0	2			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr17:7405400G>A	ENST00000322644.6	+	15	2930	c.2531G>A	c.(2530-2532)cGt>cAt	p.R844H		NM_000937.4	NP_000928	P24928	RPB1_HUMAN	polymerase (RNA) II (DNA directed) polypeptide A, 220kDa	844	Bridging helix.				7-methylguanosine mRNA capping (GO:0006370)|DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|nucleotide-excision repair (GO:0006289)|positive regulation of viral transcription (GO:0050434)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032)	DNA-directed RNA polymerase II, core complex (GO:0005665)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|RNA-directed RNA polymerase activity (GO:0003968)|ubiquitin protein ligase binding (GO:0031625)			breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(17)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	50		Prostate(122;0.173)				ATGGGGGGTCGTGAGGGGCTC	0.582																																						ENST00000322644.6																			0				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(17)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	50						c.(2530-2532)cGt>cAt		polymerase (RNA) II (DNA directed) polypeptide A, 220kDa							42	37	39					17																	7405400		2203	4300	6503	SO:0001583	missense	5430				mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|RNA-directed RNA polymerase activity|ubiquitin protein ligase binding	g.chr17:7405400G>A			17p13.1	2013-01-21	2002-08-29		ENSG00000181222	ENSG00000181222	2.7.7.6	"RNA polymerase subunits"	9187	protein-coding gene	gene with protein product	"DNA-directed RNA polymerase II largest subunit, RNA polymerase II 220 kd subunit", "RNA polymerase II subunit B1"	180660	"polymerase (RNA) II (DNA directed) polypeptide A (220kD)"	POLR2			Standard	NM_000937		Approved	POLRA, RPB1	uc002ghf.4	P24928	OTTHUMG00000177594	ENST00000322644.6:c.2531G>A	17.37:g.7405400G>A	ENSP00000314949:p.Arg844His						p.R844H	NM_000937.4	NP_000928.1	P24928	RPB1_HUMAN			15	2930	+		Prostate(122;0.173)	844			Bridging helix.		A6NN93|B9EH88|Q6NX41	Missense_Mutation	SNP	ENST00000322644.6	37	c.2531G>A	CCDS32548.1	.	.	.	.	.	.	.	.	.	.	G	34	5.311019	0.95629	.	.	ENSG00000181222	ENST00000535204;ENST00000322644	D	0.93488	-3.23	5.92	5.92	0.95590	RNA polymerase Rpb1, domain 5 (1);	0.000000	0.85682	D	0.000000	D	0.98441	0.9481	H	0.99074	4.42	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99334	1.0910	10	0.87932	D	0	-6.4219	19.0962	0.93253	0.0:0.0:1.0:0.0	.	844	P24928	RPB1_HUMAN	H	800;844	ENSP00000314949:R844H	ENSP00000314949:R844H	R	+	2	0	SLC35G6	7346124	1.000000	0.71417	0.989000	0.46669	0.995000	0.86356	7.920000	0.87521	2.818000	0.97014	0.655000	0.94253	CGT		0.582	POLR2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437967.1	NM_000937		4	23	0	0	0	1	0	4	23					A	7405400	G	A	7405400	3	1	286	1	0	0	0	0	1	0	0	0	12214	1145	40	1	2589	1	POLR2A	17	7405400	Missense_Mutation	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	75536	7405400	73789810	536	13666											
EFNB3	1949	broad.mit.edu	37	chr17	7612511	7612511	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaccagcaatgcaacctccCggggtgctgaaggccccctg	8	5	11	17	1	0	1	0	1	0	0	1	1	1	1	6	3	4	3	6	3	3	0			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr17:7612511C>T	ENST00000226091.2	+	5	1037	c.640C>T	c.(640-642)Cgg>Tgg	p.R214W		NM_001406.3	NP_001397.1	Q15768	EFNB3_HUMAN	ephrin-B3	214					adult walking behavior (GO:0007628)|axon choice point recognition (GO:0016198)|axon guidance (GO:0007411)|cell-cell signaling (GO:0007267)|ephrin receptor signaling pathway (GO:0048013)|nervous system development (GO:0007399)|viral process (GO:0016032)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ephrin receptor binding (GO:0046875)|transmembrane-ephrin receptor activity (GO:0005005)			large_intestine(3)|lung(2)|ovary(1)|prostate(1)|urinary_tract(1)	8		all_cancers(10;1.14e-06)|Prostate(122;0.081)				TGCAACCTCCCGGGGTGCTGA	0.701																																						ENST00000226091.2																			0				large_intestine(3)|lung(2)|ovary(1)|prostate(1)|urinary_tract(1)	8						c.(640-642)Cgg>Tgg		ephrin-B3							35	37	37					17																	7612511		1993	4132	6125	SO:0001583	missense	1949				cell-cell signaling|interspecies interaction between organisms	integral to plasma membrane	ephrin receptor binding|transmembrane-ephrin receptor activity	g.chr17:7612511C>T	U57001	CCDS11120.1	17p13.1	2011-03-09			ENSG00000108947	ENSG00000108947		"Ephrins"	3228	protein-coding gene	gene with protein product		602297		EPLG8		9126477	Standard	NM_001406		Approved	LERK-8	uc002gis.3	Q15768	OTTHUMG00000108161	ENST00000226091.2:c.640C>T	17.37:g.7612511C>T	ENSP00000226091:p.Arg214Trp						p.R214W	NM_001406.3	NP_001397.1	Q15768	EFNB3_HUMAN			5	1037	+		all_cancers(10;1.14e-06)|Prostate(122;0.081)	214					B2RBW2|D3DTQ6|O00680|Q8TBH7|Q92875	Missense_Mutation	SNP	ENST00000226091.2	37	c.640C>T	CCDS11120.1	.	.	.	.	.	.	.	.	.	.	C	16.09	3.025031	0.54683	.	.	ENSG00000108947	ENST00000226091	T	0.33216	1.42	4.96	3.96	0.45880	.	0.315318	0.29544	N	0.011843	T	0.30916	0.0780	N	0.08118	0	0.22378	N	0.999157	D	0.89917	1.0	D	0.63877	0.919	T	0.14008	-1.0488	10	0.66056	D	0.02	-23.851	11.4629	0.50221	0.3266:0.6734:0.0:0.0	.	214	Q15768	EFNB3_HUMAN	W	214	ENSP00000226091:R214W	ENSP00000226091:R214W	R	+	1	2	EFNB3	7553236	0.043000	0.20138	1.000000	0.80357	0.991000	0.79684	0.218000	0.17622	1.043000	0.40175	0.568000	0.79292	CGG		0.701	EFNB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226965.1	NM_001406		19	83	0	0	0	1	0	19	83					T	7612511	C	T	7612511	3	4	286	1	0	0	0	0	1	0	0	0	4957	643	23	2	658	2	EFNB3	17	7612511	Missense_Mutation	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	207111	7612511	73582699	537	13667											
AURKB	9212	broad.mit.edu	37	chr17	8108653	8108653	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caccttctcattgtgcatgcGcccctcaatcatctctgggg	6	12	8	15	1	4	0	3	0	2	0	6	0	4	0	3	2	2	1	3	2	1	2			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr17:8108653G>A	ENST00000585124.1	-	8	835	c.742C>T	c.(742-744)Cgc>Tgc	p.R248C	AURKB_ENST00000578549.1_Missense_Mutation_p.R216C|AURKB_ENST00000535053.1_3'UTR|AURKB_ENST00000316199.6_Missense_Mutation_p.R249C|AURKB_ENST00000534871.1_Missense_Mutation_p.R207C	NM_004217.3	NP_004208.2	Q96GD4	AURKB_HUMAN	aurora kinase B	248	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				abscission (GO:0009838)|aging (GO:0007568)|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|attachment of spindle microtubules to kinetochore (GO:0008608)|cell proliferation (GO:0008283)|cellular response to UV (GO:0034644)|cleavage furrow formation (GO:0036089)|cytokinesis checkpoint (GO:0031565)|histone H3-S28 phosphorylation (GO:0043988)|histone modification (GO:0016570)|mitotic cell cycle (GO:0000278)|negative regulation of B cell apoptotic process (GO:0002903)|negative regulation of cytokinesis (GO:0032466)|negative regulation of protein binding (GO:0032091)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cytokinesis (GO:0032467)|protein autophosphorylation (GO:0046777)|protein localization to kinetochore (GO:0034501)|protein phosphorylation (GO:0006468)|regulation of chromosome segregation (GO:0051983)|spindle checkpoint (GO:0031577)|spindle midzone assembly involved in mitosis (GO:0051256)|spindle stabilization (GO:0043146)	chromocenter (GO:0010369)|chromosome passenger complex (GO:0032133)|condensed chromosome, centromeric region (GO:0000779)|condensed nuclear chromosome, centromeric region (GO:0000780)|cytosol (GO:0005829)|intercellular bridge (GO:0045171)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle (GO:0005819)	ATP binding (GO:0005524)|histone serine kinase activity (GO:0035174)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)			breast(1)|central_nervous_system(1)|lung(2)	4						TTGTGCATGCGCCCCTCAATC	0.567																																					NSCLC(134;1161 2470 43664 51568)	ENST00000316199.6																			0				breast(1)|central_nervous_system(1)|lung(2)	4						c.(745-747)Cgc>Tgc		aurora kinase B							147	118	128					17																	8108653		2203	4300	6503	SO:0001583	missense	9212				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|mitotic prometaphase|protein localization to kinetochore	chromosome passenger complex|condensed nuclear chromosome, centromeric region|cytosol|spindle	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr17:8108653G>A	AF004022	CCDS11134.1, CCDS58514.1, CCDS67162.1	17p13.1	2013-01-17	2003-07-21	2003-07-23	ENSG00000178999	ENSG00000178999		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	11390	protein-coding gene	gene with protein product	"aurora-B", "aurora-1", "protein phosphatase 1, regulatory subunit 48"	604970	"serine/threonine kinase 12"	STK12		9858806	Standard	NM_001256834		Approved	Aik2, IPL1, AurB, AIM-1, ARK2, STK5, PPP1R48	uc002gkm.4	Q96GD4	OTTHUMG00000108189	ENST00000585124.1:c.742C>T	17.37:g.8108653G>A	ENSP00000463999:p.Arg248Cys					AURKB_ENST00000585124.1_Missense_Mutation_p.R248C|AURKB_ENST00000578549.1_Missense_Mutation_p.R216C|AURKB_ENST00000535053.1_3'UTR|AURKB_ENST00000534871.1_Missense_Mutation_p.R207C	p.R249C			Q96GD4	AURKB_HUMAN			8	822	-			248	MH -> ID (in Ref. 3; BAA82709).		Protein kinase.		B4DNM4|C7G533|C7G534|C7G535|D3DTR4|J9JID1|O14630|O60446|O95083|Q96DV5|Q9UQ46	Missense_Mutation	SNP	ENST00000585124.1	37	c.745C>T	CCDS11134.1	.	.	.	.	.	.	.	.	.	.	G	15.08	2.726690	0.48833	.	.	ENSG00000178999	ENST00000316199;ENST00000534871	T	0.67171	-0.25	5.4	2.34	0.29019	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.324791	0.36234	N	0.002716	T	0.50257	0.1605	L	0.42686	1.345	0.80722	D	1	B;B	0.28636	0.218;0.218	B;B	0.16289	0.015;0.015	T	0.47262	-0.9131	10	0.87932	D	0	-22.2238	4.3531	0.11165	0.1656:0.0:0.5176:0.3168	.	248;248	C7G533;Q96GD4	.;AURKB_HUMAN	C	248;207	ENSP00000443869:R207C	ENSP00000313950:R248C	R	-	1	0	AURKB	8049378	0.113000	0.22115	0.939000	0.37840	0.897000	0.52465	1.137000	0.31479	0.416000	0.25844	0.650000	0.86243	CGC		0.567	AURKB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000226995.2	NM_004217		18	72	0	0	0	1	0	18	72					A	8108653	G	A	8108653	3	1	286	1	0	0	0	0	1	0	0	0	1223	1087	38	1	300	1	AURKB	17	8108653	Missense_Mutation	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	496142	8108653	73086557	538	13668											
C17orf68	80169	broad.mit.edu	37	chr17	8138396	8138396	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggccagctcctccagggcctTggtagcccacaggtagaggg	7	6	15	13	0	0	1	0	0	0	1	2	1	2	1	5	5	2	3	5	5	2	3			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr17:8138396T>C	ENST00000315684.8	-	8	1421	c.1414A>G	c.(1414-1416)Aag>Gag	p.K472E	CTC1_ENST00000581671.1_5'Flank	NM_025099.5	NP_079375.3	Q2NKJ3	CTC1_HUMAN	CTS telomere maintenance complex component 1	472					bone marrow development (GO:0048539)|cellular response to DNA damage stimulus (GO:0006974)|hematopoietic stem cell proliferation (GO:0071425)|multicellular organism growth (GO:0035264)|positive regulation of DNA replication (GO:0045740)|positive regulation of fibroblast proliferation (GO:0048146)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|replicative senescence (GO:0090399)|spleen development (GO:0048536)|telomere maintenance (GO:0000723)|telomere maintenance via telomere lengthening (GO:0010833)|thymus development (GO:0048538)	nuclear chromosome, telomeric region (GO:0000784)|nucleus (GO:0005634)|Stn1-Ten1 complex (GO:0070188)	single-stranded DNA binding (GO:0003697)			NS(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(8)|ovary(1)|skin(4)	29						TCCAGGGCCTTGGTAGCCCAC	0.632																																						ENST00000315684.8																			0				NS(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(8)|ovary(1)|skin(4)	29						c.(1414-1416)Aag>Gag		CTS telomere maintenance complex component 1							44	47	46					17																	8138396		2056	4207	6263	SO:0001583	missense	80169				positive regulation of DNA replication|telomere maintenance	Stn1-Ten1 complex	protein binding|single-stranded DNA binding	g.chr17:8138396T>C	AL831955	CCDS42259.1	17p13.1	2011-02-21	2011-02-21	2011-02-21	ENSG00000178971	ENSG00000178971			26169	protein-coding gene	gene with protein product	"conserved telomere maintenance component 1", "alpha accessory factor 132", "conserved telomere capping protein 1"	613129	"tmp494178", "chromosome 17 open reading frame 68"	C17orf68		19854130, 19854131	Standard	NM_025099		Approved	FLJ22170, AAF132	uc002gkq.4	Q2NKJ3		ENST00000315684.8:c.1414A>G	17.37:g.8138396T>C	ENSP00000313759:p.Lys472Glu						p.K472E	NM_025099.5	NP_079375.3	Q2NKJ3	CTC1_HUMAN			8	1421	-			472					B3KR66|C9JEX5|Q1PCD1|Q2TBE3|Q8N3S6|Q9H6L0	Missense_Mutation	SNP	ENST00000315684.8	37	c.1414A>G	CCDS42259.1	.	.	.	.	.	.	.	.	.	.	t	15.28	2.787560	0.49997	.	.	ENSG00000178971	ENST00000315684;ENST00000449476	D;D	0.83075	-1.68;-1.68	4.91	4.91	0.64330	.	0.412734	0.23920	N	0.043257	T	0.79275	0.4418	L	0.57536	1.79	0.32501	N	0.538873	P	0.44139	0.827	B	0.44133	0.442	T	0.78324	-0.2248	10	0.10377	T	0.69	-12.4552	10.866	0.46856	0.0:0.0:0.0:1.0	.	472	Q2NKJ3	CTC1_HUMAN	E	472;437	ENSP00000313759:K472E;ENSP00000396018:K437E	ENSP00000313759:K472E	K	-	1	0	CTC1	8079121	0.706000	0.27856	0.986000	0.45419	0.992000	0.81027	4.182000	0.58310	2.069000	0.61940	0.411000	0.27672	AAG		0.632	CTC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000442012.1	NM_025099		5	63	0	0	0	1	0	5	63					C	8138396	T	C	8138396	3	2	286	1	0	0	0	0	1	0	0	0	1876	1821	63	4	2303	4	C17orf68	17	8138396	Missense_Mutation	SNP	T	TCGA-J9-A52C-01A-11D-A26M-08	29743	8138396	73056814	539	13669											
MYH4	4622	broad.mit.edu	37	chr17	10360835	10360835	+	Frame_Shift_Del	DEL	T	T	-																															tctcattcagggggtccttgTttttgtccagccagccggcg																										TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr17:10360835delT	ENST00000255381.2	-	16	1909	c.1799delA	c.(1798-1800)aacfs	p.N600fs	RP11-799N11.1_ENST00000399342.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|CTC-297N7.11_ENST00000587182.2_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	600	Myosin motor.				actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|membrane organization (GO:0061024)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|response to activity (GO:0014823)	muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|microfilament motor activity (GO:0000146)			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						GGGGTCCTTGTTTTTGTCCAG	0.562																																						ENST00000255381.2																			0				NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						c.(1798-1800)acfs		myosin, heavy chain 4, skeletal muscle							95	94	94					17																	10360835		2203	4300	6503	SO:0001589	frameshift_variant	4622				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr17:10360835delT		CCDS11154.1	17p13.1	2013-09-19	2006-09-29		ENSG00000264424	ENSG00000264424		"Myosins / Myosin superfamily : Class II"	7574	protein-coding gene	gene with protein product		160742	"myosin, heavy polypeptide 4, skeletal muscle"			8518795	Standard	NM_017533		Approved	MYH2B, MyHC-2B, MyHC-IIb	uc002gmn.3	Q9Y623	OTTHUMG00000130365	ENST00000255381.2:c.1799delA	17.37:g.10360835delT	ENSP00000255381:p.Asn600fs					CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA	p.N600fs	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN			16	1909	-			600			Myosin head-like.			Frame_Shift_Del	DEL	ENST00000255381.2	37	c.1799delA	CCDS11154.1																																																																																				0.562	MYH4-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252731.1	NM_017533		11	68						11	68	---	---	---	---	-	10360835	T	-	10360835	7	5	286	1	0	1	0	1	0	0	0	0	10037	1725	60	0	4120	0	MYH4	17	10360835	Frame_Shift_Del	DEL	T	TCGA-J9-A52C-01A-11D-A26M-08	2222439	10360835	70834375	540	13670											
TBC1D26	353149	broad.mit.edu	37	chr17	15641312	15641313	+	Splice_Site	DEL	AA	AA	-																															atcatggctcatttgacagcAaagacgcaaggaaagtaaac																										TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr17:15641312_15641313delAA	ENST00000437605.2	+	6	450_451	c.200_201delAA	c.(199-201)caa>c	p.Q67fs	AC005324.6_ENST00000580194.1_RNA|AC005324.6_ENST00000434017.1_RNA|AC005324.6_ENST00000433873.1_RNA|TBC1D26_ENST00000579428.1_Splice_Site_p.Q67fs|ZNF286A_ENST00000413242.2_3'UTR	NM_178571.4	NP_848666	Q86UD7	TBC26_HUMAN	TBC1 domain family, member 26	67							Rab GTPase activator activity (GO:0005097)			endometrium(1)|large_intestine(1)|lung(4)|skin(1)	7				UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)|READ - Rectum adenocarcinoma(1115;0.0222)|BRCA - Breast invasive adenocarcinoma(8;0.078)		ATTTGACAGCAAAGACGCAAGG	0.54																																						ENST00000437605.2																			0				endometrium(1)|large_intestine(1)|lung(4)|skin(1)	7						c.e6-1		TBC1 domain family, member 26																																				SO:0001630	splice_region_variant	353149					intracellular	Rab GTPase activator activity	g.chr17:15641312_15641313delAA		CCDS42265.1	17p11.2	2008-11-04			ENSG00000214946	ENSG00000214946			28745	protein-coding gene	gene with protein product						11347906	Standard	NM_178571		Approved	MGC51025	uc010cov.3	Q86UD7	OTTHUMG00000059071	ENST00000437605.2:c.199-1AA>-	17.37:g.15641312_15641313delAA						AC005324.6_ENST00000434017.1_RNA|TBC1D26_ENST00000579428.1_Splice_Site_p.Q67_splice|ZNF286A_ENST00000413242.2_3'UTR	p.Q67_splice	NM_178571.4	NP_848666.2	Q86UD7	TBC26_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)|READ - Rectum adenocarcinoma(1115;0.0222)|BRCA - Breast invasive adenocarcinoma(8;0.078)	6	450_451	+			67					A8K929|Q4G172	Splice_Site	DEL	ENST00000437605.2	37	c.198_splice	CCDS42265.1																																																																																				0.54	TBC1D26-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_178571	Frame_Shift_Del	9	48						9	48	---	---	---	---	-	15641313	AA	-	15641312	8	5	286	1	0	1	0	1	0	0	1	0	15613	144	5	0	214	0	TBC1D26	17	15641312	Splice_Site	DEL	AA	TCGA-J9-A52C-01A-11D-A26M-08	5280477	15641312	65553898	541	13671											
NCOR1	9611	broad.mit.edu	37	chr17	15973813	15973815	+	In_Frame_Del	DEL	GTT	GTT	-																															ttgatggcagattgacctgaGttgttgtcaaactttattgg																										TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr17:15973813_15973815delGTT	ENST00000268712.3	-	31	4434_4436	c.4177_4179delAAC	c.(4177-4179)aacdel	p.N1393del	NCOR1_ENST00000395857.3_5'UTR|NCOR1_ENST00000395851.1_In_Frame_Del_p.N1409del	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN	nuclear receptor corepressor 1	1393	Interaction with ETO.				CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation (GO:0002361)|cellular lipid metabolic process (GO:0044255)|cholesterol homeostasis (GO:0042632)|chromatin modification (GO:0016568)|circadian regulation of gene expression (GO:0032922)|definitive erythrocyte differentiation (GO:0060318)|gene expression (GO:0010467)|negative regulation of JNK cascade (GO:0046329)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of histone deacetylation (GO:0031065)|regulation of fatty acid transport (GO:2000191)|regulation of glycolytic process by negative regulation of transcription from RNA polymerase II promoter (GO:0072362)|regulation of lipid transport by negative regulation of transcription from RNA polymerase II promoter (GO:0072368)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|spindle assembly (GO:0051225)|thalamus development (GO:0021794)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|histone deacetylase binding (GO:0042826)|histone deacetylase regulator activity (GO:0035033)|nuclear hormone receptor binding (GO:0035257)|RNA polymerase II activating transcription factor binding (GO:0001102)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		ATTGACCTGAGTTGTTGTCAAAC	0.448																																						ENST00000268712.3																			0				NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107						c.(4177-4179)del		nuclear receptor corepressor 1																																				SO:0001651	inframe_deletion	9611				cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter	nuclear chromatin|spindle microtubule|transcriptional repressor complex	histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding	g.chr17:15973813_15973815delGTT	AF044209	CCDS11175.1, CCDS54094.1, CCDS54095.1	17p11.2	2014-06-12	2010-06-10		ENSG00000141027	ENSG00000141027			7672	protein-coding gene	gene with protein product	"thyroid hormone- and retinoic acid receptor-associated corepressor 1", "protein phosphatase 1, regulatory subunit 109"	600849	"nuclear receptor co-repressor 1"			7566114, 9724795	Standard	NM_006311		Approved	N-CoR, hCIT529I10, TRAC1, hN-CoR, KIAA1047, MGC104216, PPP1R109	uc002gpo.3	O75376	OTTHUMG00000059309	ENST00000268712.3:c.4177_4179delAAC	17.37:g.15973816_15973818delGTT	ENSP00000268712:p.Asn1393del					NCOR1_ENST00000395851.1_In_Frame_Del_p.N1409del|NCOR1_ENST00000395857.3_5'UTR	p.N1393del	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.101)	31	4434_4436	-			1393			Interaction with ETO.		B3DLF8|E9PGV6|Q86YY0|Q9UPV5|Q9UQ18	In_Frame_Del	DEL	ENST00000268712.3	37	c.4177_4179delAAC	CCDS11175.1																																																																																				0.448	NCOR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131751.5	NM_006311		12	52						12	52	---	---	---	---	-	15973815	GTT	-	15973813	7	5	286	1	0	1	0	1	0	0	0	0	10235	1020	36	0	3207	0	NCOR1	17	15973813	In_Frame_Del	DEL	GTT	TCGA-J9-A52C-01A-11D-A26M-08	332501	15973813	65221397	542	13672											
RAI1	10743	broad.mit.edu	37	chr17	17699169	17699169	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggggattccaccacctcggaCgcctctctggcccagaagcc	7	6	11	17	2	1	1	0	0	1	1	4	3	2	3	6	4	1	0	6	4	1	1	rs141757356	byFrequency	TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr17:17699169C>T	ENST00000353383.1	+	3	3376	c.2907C>T	c.(2905-2907)gaC>gaT	p.D969D	RAI1_ENST00000261641.6_Silent_p.D969D	NM_030665.3	NP_109590.3	Q7Z5J4	RAI1_HUMAN	retinoic acid induced 1	969					circadian regulation of gene expression (GO:0032922)|negative regulation of multicellular organism growth (GO:0040015)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	enhancer binding (GO:0035326)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(5)|urinary_tract(7)	48				READ - Rectum adenocarcinoma(1115;0.0276)		CCACCTCGGACGCCTCTCTGG	0.622													C|||	12	0.00239617	0.0076	0.0014	5008	,	,		15878	0		0.001	False		,,,				2504	0					ENST00000353383.1																			0				breast(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(5)|urinary_tract(7)	48						c.(2905-2907)gaC>gaT		retinoic acid induced 1		C		65,4341	58.7+/-95.3	0,65,2138	36	37	37		2907	-8.6	0	17	dbSNP_134	37	4,8596	3.7+/-12.6	0,4,4296	no	coding-synonymous	RAI1	NM_030665.3		0,69,6434	TT,TC,CC		0.0465,1.4753,0.5305		969/1907	17699169	69,12937	2203	4300	6503	SO:0001819	synonymous_variant	10743					cytoplasm|nucleus	zinc ion binding	g.chr17:17699169C>T	AJ230819	CCDS11188.1	17p11.2	2011-02-08			ENSG00000108557	ENSG00000108557			9834	protein-coding gene	gene with protein product		607642	"Smith-Magenis syndrome chromosome region"	SMCR		10036180	Standard	NM_030665		Approved	DKFZP434A139, SMS, KIAA1820, MGC12824	uc002grm.3	Q7Z5J4	OTTHUMG00000059314	ENST00000353383.1:c.2907C>T	17.37:g.17699169C>T						RAI1_ENST00000261641.6_Silent_p.D969D	p.D969D	NM_030665.3	NP_109590.3	Q7Z5J4	RAI1_HUMAN		READ - Rectum adenocarcinoma(1115;0.0276)	3	3376	+			969					Q8N3B4|Q8ND08|Q8WU64|Q96JK5|Q9H1C1|Q9H1C2|Q9UF69	Silent	SNP	ENST00000353383.1	37	c.2907C>T	CCDS11188.1																																																																																				0.622	RAI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131775.1	NM_030665		9	35	0	0	0	1	0	9	35					T	17699169	C	T	17699169	2	4	286	1	0	0	0	0	0	0	0	1	13007	535	19	1		1	RAI1	17	17699169	Silent	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	1725356	17699169	63496041	543	13673											
SHMT1	6470	broad.mit.edu	37	chr17	18232643	18232643	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtctttttccaaaagtccacGggacgtcagtgctggggtcc	7	11	12	11	2	2	0	1	0	1	0	5	1	5	1	3	3	1	1	3	3	2	2	rs375139072		TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr17:18232643G>A	ENST00000316694.3	-	11	1365	c.1231C>T	c.(1231-1233)Cgt>Tgt	p.R411C	SHMT1_ENST00000354098.3_Missense_Mutation_p.R372C|SHMT1_ENST00000352886.6_Missense_Mutation_p.R331C|SHMT1_ENST00000539052.1_Missense_Mutation_p.R273C	NM_004169.3	NP_004160.3	P34896	GLYC_HUMAN	serine hydroxymethyltransferase 1 (soluble)	411					carnitine biosynthetic process (GO:0045329)|cellular nitrogen compound metabolic process (GO:0034641)|folic acid metabolic process (GO:0046655)|glycine biosynthetic process from serine (GO:0019264)|L-serine catabolic process (GO:0006565)|protein homotetramerization (GO:0051289)|protein tetramerization (GO:0051262)|purine nucleobase biosynthetic process (GO:0009113)|small molecule metabolic process (GO:0044281)|tetrahydrofolate interconversion (GO:0035999)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	amino acid binding (GO:0016597)|glycine hydroxymethyltransferase activity (GO:0004372)|L-allo-threonine aldolase activity (GO:0008732)|protein homodimerization activity (GO:0042803)|pyridoxal phosphate binding (GO:0030170)			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)	13					Glycine(DB00145)|Mimosine(DB01055)|Tetrahydrofolic acid(DB00116)	AAAAGTCCACGGGACGTCAGT	0.483																																						ENST00000316694.3																			0				breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)	13						c.(1231-1233)Cgt>Tgt		serine hydroxymethyltransferase 1 (soluble)	Glycine(DB00145)|Mimosine(DB01055)|Pyridoxal Phosphate(DB00114)|Tetrahydrofolic acid(DB00116)	G	CYS/ARG,CYS/ARG	0,4406		0,0,2203	53	54	54		1231,1114	4.5	1	17		54	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	SHMT1	NM_004169.3,NM_148918.1	180,180	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging	411/484,372/445	18232643	1,13005	2203	4300	6503	SO:0001583	missense	6470				carnitine biosynthetic process|folic acid metabolic process|L-serine catabolic process|one-carbon metabolic process|purine base biosynthetic process	cytosol|nucleus	glycine hydroxymethyltransferase activity|protein homodimerization activity|pyridoxal phosphate binding	g.chr17:18232643G>A		CCDS11196.1, CCDS11197.1, CCDS62112.1	17p11.2	2010-04-23			ENSG00000176974	ENSG00000176974	2.1.2.1		10850	protein-coding gene	gene with protein product	"cytoplasmic serine hydroxymethyltransferase", "14 kDa protein"	182144				8505317	Standard	NM_004169		Approved	CSHMT, SHMT, MGC15229, MGC24556	uc002gta.3	P34896	OTTHUMG00000059094	ENST00000316694.3:c.1231C>T	17.37:g.18232643G>A	ENSP00000318868:p.Arg411Cys					SHMT1_ENST00000352886.6_Missense_Mutation_p.R331C|SHMT1_ENST00000539052.1_Missense_Mutation_p.R273C|SHMT1_ENST00000354098.3_Missense_Mutation_p.R372C	p.R411C	NM_004169.3	NP_004160.3	P34896	GLYC_HUMAN			11	1365	-			411					B4DPM9|D3DXD0|Q96HY0|Q9UMD1|Q9UMD2	Missense_Mutation	SNP	ENST00000316694.3	37	c.1231C>T	CCDS11196.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.068319	0.76301	0.0	1.16E-4	ENSG00000176974	ENST00000316694;ENST00000395684;ENST00000352886;ENST00000539052;ENST00000354098	T;T;T;T	0.61274	0.12;1.22;0.12;1.22	5.52	4.49	0.54785	Pyridoxal phosphate-dependent transferase, major region, subdomain 2 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.000000	0.85682	D	0.000000	D	0.85911	0.5807	H	0.99565	4.63	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.91021	0.4857	10	0.87932	D	0	-8.6447	14.1676	0.65488	0.0:0.0:0.7483:0.2517	.	372;411	P34896-2;P34896	.;GLYC_HUMAN	C	411;186;331;273;372	ENSP00000318868:R411C;ENSP00000345881:R331C;ENSP00000440089:R273C;ENSP00000318805:R372C	ENSP00000318868:R411C	R	-	1	0	SHMT1	18173368	1.000000	0.71417	0.978000	0.43139	0.918000	0.54935	1.542000	0.36137	2.761000	0.94854	0.655000	0.94253	CGT		0.483	SHMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130831.2	NM_004169		3	17	0	0	0	1	0	3	17					A	18232643	G	A	18232643	3	1	286	1	0	0	0	0	1	0	0	0	14285	1116	39	2	228	2	SHMT1	17	18232643	Missense_Mutation	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	533474	18232643	62962567	544	13674											
TRIM16L	147166	broad.mit.edu	37	chr17	18638608	18638608	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggatcctttccttctatggCgtagagtatgattccatgac	8	14	10	9	1	1	3	0	2	1	1	4	4	4	4	3	2	0	2	3	2	3	6	rs375964173		TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr17:18638608C>T	ENST00000449552.2	+	7	2366	c.882C>T	c.(880-882)ggC>ggT	p.G294G	TRIM16L_ENST00000395902.3_Silent_p.G348G|TRIM16L_ENST00000395672.2_Silent_p.G294G|TRIM16L_ENST00000395671.4_Silent_p.G294G|TRIM16L_ENST00000572555.1_Silent_p.G294G|TRIM16L_ENST00000414850.2_3'UTR|TRIM16L_ENST00000571708.1_Silent_p.G294G			Q309B1	TR16L_HUMAN	tripartite motif containing 16-like	294	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.					cytoplasm (GO:0005737)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)	9						CCTTCTATGGCGTAGAGTATG	0.512																																						ENST00000449552.2																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)	9						c.(880-882)ggC>ggT		tripartite motif containing 16-like							90	88	89					17																	18638608		2203	4300	6503	SO:0001819	synonymous_variant	147166					cytoplasm		g.chr17:18638608C>T	DQ232882	CCDS32588.1	17p11.2	2011-02-10	2011-01-25		ENSG00000108448	ENSG00000108448			32670	protein-coding gene	gene with protein product			"tripartite motif-containing 16-like"				Standard	XM_005256479		Approved	TRIM70	uc002gui.1	Q309B1	OTTHUMG00000059050	ENST00000449552.2:c.882C>T	17.37:g.18638608C>T						TRIM16L_ENST00000395902.3_Silent_p.G348G|TRIM16L_ENST00000572555.1_Silent_p.G294G|TRIM16L_ENST00000395672.2_Silent_p.G294G|TRIM16L_ENST00000395671.4_Silent_p.G294G|TRIM16L_ENST00000414850.2_3'UTR|TRIM16L_ENST00000571708.1_Silent_p.G294G	p.G294G			Q309B1	TR16L_HUMAN			7	2366	+			294			B30.2/SPRY.		A0PK10|B2RUW6|B4DQK2|B4DWQ8	Silent	SNP	ENST00000449552.2	37	c.882C>T	CCDS32588.1																																																																																				0.512	TRIM16L-012	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130670.3	NM_001037330		12	43	0	0	0	1	0	12	43					T	18638608	C	T	18638608	2	4	286	1	0	0	0	0	0	0	0	1	16489	755	27	1		1	TRIM16L	17	18638608	Silent	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	405965	18638608	62556602	545	13675											
SSH2	85464	broad.mit.edu	37	chr17	27999103	27999103	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgcctgggtagtagttatgcGctctggcgacttcacaagcc	7	11	12	11	2	2	0	1	0	1	0	2	1	2	0	2	2	3	4	2	2	4	4			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr17:27999103G>A	ENST00000269033.3	-	8	729	c.578C>T	c.(577-579)gCg>gTg	p.A193V	SSH2_ENST00000324677.7_5'Flank|SSH2_ENST00000540801.1_Missense_Mutation_p.A220V|RP11-68I3.2_ENST00000581474.1_RNA	NM_001282129.1|NM_033389.2	NP_001269058.1|NP_203747.2	Q76I76	SSH2_HUMAN	slingshot protein phosphatase 2	193					actin cytoskeleton organization (GO:0030036)|protein dephosphorylation (GO:0006470)|regulation of actin polymerization or depolymerization (GO:0008064)|regulation of axonogenesis (GO:0050770)|regulation of lamellipodium assembly (GO:0010591)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular space (GO:0005615)	actin binding (GO:0003779)|DNA binding (GO:0003677)|phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)		SSH2/SUZ12(2)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GTAGTTATGCGCTCTGGCGAC	0.468																																						ENST00000269033.3																		SSH2/SUZ12(2)	0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						c.(577-579)gCg>gTg		slingshot protein phosphatase 2							156	139	145					17																	27999103		2203	4300	6503	SO:0001583	missense	85464				actin cytoskeleton organization|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly	cytoplasm|cytoskeleton	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr17:27999103G>A	AB072359	CCDS11253.1, CCDS74024.1	17q11.2	2013-03-05	2013-03-05		ENSG00000141298	ENSG00000141298		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Slingshots"	30580	protein-coding gene	gene with protein product		606779	"slingshot homolog 2 (Drosophila)"			11832213, 11214970	Standard	XM_005258059		Approved	KIAA1725	uc002heo.1	Q76I76	OTTHUMG00000132752	ENST00000269033.3:c.578C>T	17.37:g.27999103G>A	ENSP00000269033:p.Ala193Val					SSH2_ENST00000540801.1_Missense_Mutation_p.A220V|RP11-68I3.2_ENST00000581474.1_RNA	p.A193V	NM_033389.2	NP_203747.2	Q76I76	SSH2_HUMAN			8	729	-			193					Q8TDB5|Q8WYL1|Q8WYL2|Q96F40|Q96H36|Q9C0D8	Missense_Mutation	SNP	ENST00000269033.3	37	c.578C>T	CCDS11253.1	.	.	.	.	.	.	.	.	.	.	G	12.82	2.052540	0.36181	.	.	ENSG00000141298	ENST00000269033;ENST00000540801;ENST00000394848	T;T	0.33865	1.39;1.39	5.67	3.44	0.39384	.	0.322824	0.40818	N	0.001007	T	0.17746	0.0426	N	0.08118	0	0.80722	D	1	B;B;B	0.13145	0.003;0.007;0.001	B;B;B	0.14023	0.01;0.005;0.004	T	0.04781	-1.0927	10	0.29301	T	0.29	-2.9649	9.0367	0.36291	0.7409:0.1763:0.0828:0.0	.	220;193;193	F5H527;Q76I76-4;Q76I76	.;.;SSH2_HUMAN	V	193;220;193	ENSP00000269033:A193V;ENSP00000444743:A220V	ENSP00000269033:A193V	A	-	2	0	SSH2	25023229	0.250000	0.23951	1.000000	0.80357	0.863000	0.49368	1.741000	0.38238	0.985000	0.38656	-0.492000	0.04666	GCG		0.468	SSH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256116.1	NM_033389		10	33	0	0	0	1	0	10	33					A	27999103	G	A	27999103	3	1	286	1	0	0	0	0	1	0	0	0	15184	1087	38	1	3725	1	SSH2	17	27999103	Missense_Mutation	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	9360495	27999103	53196107	546	13676											
RHBDL3	162494	broad.mit.edu	37	chr17	30625115	30625115	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtctctctgtcacaggataGaacacctgggactcaatgtg	10	10	11	10	0	4	1	2	0	2	1	5	3	4	3	1	3	1	0	1	3	3	1			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr17:30625115G>T	ENST00000269051.4	+	6	687	c.673G>T	c.(673-675)Gaa>Taa	p.E225*	RHBDL3_ENST00000538145.1_Nonsense_Mutation_p.E217*|RHBDL3_ENST00000536287.1_Nonsense_Mutation_p.E127*	NM_138328.2	NP_612201.1	P58872	RHBL3_HUMAN	rhomboid, veinlet-like 3 (Drosophila)	225						integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|serine-type endopeptidase activity (GO:0004252)			breast(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(2)|skin(1)	16		Breast(31;0.116)|Ovarian(249;0.182)				TCACAGGATAGAACACCTGGG	0.522																																						ENST00000269051.4																			0				breast(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(2)|skin(1)	16						c.(673-675)Gaa>Taa		rhomboid, veinlet-like 3 (Drosophila)							161	137	145					17																	30625115		2203	4300	6503	SO:0001587	stop_gained	162494				proteolysis	integral to membrane	calcium ion binding|serine-type endopeptidase activity	g.chr17:30625115G>T	AJ313480	CCDS32613.1	17q11.2	2013-01-10				ENSG00000141314		"EF-hand domain containing"	16502	protein-coding gene	gene with protein product			"rhomboid, veinlet-like 4 (Drosophila)"	RHBDL4		11900977	Standard	XM_006721733		Approved	VRHO	uc002hhe.1	P58872		ENST00000269051.4:c.673G>T	17.37:g.30625115G>T	ENSP00000269051:p.Glu225*					RHBDL3_ENST00000536287.1_Nonsense_Mutation_p.E127*|RHBDL3_ENST00000538145.1_Nonsense_Mutation_p.E217*	p.E225*	NM_138328.2	NP_612201.1	P58872	RHBL3_HUMAN			6	687	+		Breast(31;0.116)|Ovarian(249;0.182)	225					A6NMH1|Q495Y4|Q495Y5|Q495Y6	Nonsense_Mutation	SNP	ENST00000269051.4	37	c.673G>T	CCDS32613.1	.	.	.	.	.	.	.	.	.	.	G	37	6.091904	0.97276	.	.	ENSG00000141314	ENST00000431505;ENST00000269051;ENST00000538145;ENST00000536287	.	.	.	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-28.1611	19.8863	0.96913	0.0:0.0:1.0:0.0	.	.	.	.	X	225;225;217;127	.	ENSP00000269051:E225X	E	+	1	0	RHBDL3	27649228	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.102000	0.94226	2.706000	0.92434	0.561000	0.74099	GAA		0.522	RHBDL3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000447120.1	NM_138328		12	80	1	0	7.03913e-09	1	7.20767e-09	12	80					T	30625115	G	T	30625115	4	4	286	1	0	0	0	0	0	1	0	0	13323	943	33	5	695	5	RHBDL3	17	30625115	Nonsense_Mutation	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	2626012	30625115	50570095	547	13677											
TMEM132E	124842	broad.mit.edu	37	chr17	32964315	32964315	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gatgagcatgtggccactgtGacccaggaccgggccttccc	7	7	13	14	1	0	2	0	2	0	0	1	4	1	3	5	3	1	1	5	3	0	1			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr17:32964315G>A	ENST00000321639.5	+	10	2347	c.2019G>A	c.(2017-2019)gtG>gtA	p.V673V		NM_207313.1	NP_997196.1	Q6IEE7	T132E_HUMAN	transmembrane protein 132E	673						integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(28)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	57				BRCA - Breast invasive adenocarcinoma(366;0.231)		TGGCCACTGTGACCCAGGACC	0.617																																						ENST00000321639.5																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(28)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	57						c.(2017-2019)gtG>gtA		transmembrane protein 132E							98	92	94					17																	32964315		2203	4300	6503	SO:0001819	synonymous_variant	124842					integral to membrane		g.chr17:32964315G>A	BN000149	CCDS11283.1	17q12	2012-11-01			ENSG00000181291	ENSG00000181291			26991	protein-coding gene	gene with protein product							Standard	NM_207313		Approved		uc002hif.3	Q6IEE7	OTTHUMG00000132927	ENST00000321639.5:c.2019G>A	17.37:g.32964315G>A							p.V673V	NM_207313.1	NP_997196.1	Q6IEE7	T132E_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.231)	10	2347	+			673					Q8WUF4|Q8WVA5	Silent	SNP	ENST00000321639.5	37	c.2019G>A	CCDS11283.1																																																																																				0.617	TMEM132E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256440.2	NM_207313		23	128	0	0	0	1	0	23	128					A	32964315	G	A	32964315	2	1	286	1	0	0	0	0	0	0	0	1	16045	1277	45	3		3	TMEM132E	17	32964315	Silent	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	2339200	32964315	48230895	548	13678											
TAF15	8148	broad.mit.edu	37	chr17	34171788	34171788	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaccgaggtggaggctatggTggagaccgaggaggctatgg	9	6	20	6	2	0	1	0	0	0	1	0	7	0	3	2	8	0	2	2	8	2	2			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr17:34171788T>C	ENST00000588240.1	+	15	1600	c.1485T>C	c.(1483-1485)ggT>ggC	p.G495G	TAF15_ENST00000592237.1_Intron|TAF15_ENST00000311979.3_Silent_p.G492G	NM_003487.3|NM_139215.2	NP_003478.1|NP_631961.1	Q16514	TAF12_HUMAN	TAF15 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 68kDa	0					chromatin organization (GO:0006325)|DNA-templated transcription, initiation (GO:0006352)|gene expression (GO:0010467)|histone H3 acetylation (GO:0043966)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|regulation of RNA biosynthetic process (GO:2001141)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	nucleoplasm (GO:0005654)|PCAF complex (GO:0000125)|STAGA complex (GO:0030914)|transcription factor TFIID complex (GO:0005669)|transcription factor TFTC complex (GO:0033276)	DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)		TAF15/NR4A3(33)	lung(1)|ovary(1)|skin(2)|stomach(1)	5		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0193)		gaggctatggtggagaccgag	0.602			T	"TEC, CHN1, ZNF384"	"extraskeletal myxoid chondrosarcomas, ALL"																																	ENST00000588240.1				Dom	yes		17	17q11.1-q11.2	8148	T	"TAF15 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 68kDa"			"L, M"	"TEC, CHN1, ZNF384"		"extraskeletal myxoid chondrosarcomas, ALL"	TAF15/NR4A3(33)	0				lung(1)|ovary(1)|skin(2)|stomach(1)	5						c.(1483-1485)ggT>ggC		TAF15 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 68kDa							73	62	65					17																	34171788		2203	4300	6503	SO:0001819	synonymous_variant	8148				positive regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|nucleotide binding|protein binding|RNA binding|zinc ion binding	g.chr17:34171788T>C	U51334	CCDS32623.1, CCDS59279.1	17q11.1-q11.2	2013-02-12	2002-08-29	2001-12-07		ENSG00000270647		"RNA binding motif (RRM) containing"	11547	protein-coding gene	gene with protein product		601574	"TATA box binding protein (TBP)-associated factor, RNA polymerase II, N, 68kD (RNA-binding protein 56)"	TAF2N		8954779, 9795213	Standard	NM_003487		Approved	hTAFII68, RBP56, Npl3	uc002hkd.4	Q92804		ENST00000588240.1:c.1485T>C	17.37:g.34171788T>C						TAF15_ENST00000311979.3_Silent_p.G492G|TAF15_ENST00000592237.1_Intron	p.G495G	NM_003487.3|NM_139215.2	NP_003478.1|NP_631961.1	Q92804	RBP56_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0193)	15	1600	+		Ovarian(249;0.17)	495			21 X approximate tandem repeats of D-R- [S,G](0,3)-G-G-Y-G-G.|Arg/Gly-rich.		D3DPM5|Q15775|Q5T077	Silent	SNP	ENST00000588240.1	37	c.1485T>C	CCDS32623.1																																																																																				0.602	TAF15-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000449134.1	NM_139215		4	19	0	0	0	1	0	4	19					C	34171788	T	C	34171788	2	2	286	1	0	0	0	0	0	0	0	1	15515	1683	59	4		4	TAF15	17	34171788	Silent	SNP	T	TCGA-J9-A52C-01A-11D-A26M-08	1207473	34171788	47023422	549	13679											
AATF	26574	broad.mit.edu	37	chr17	35345870	35345870	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tagaagagaagaagcagcaaCgaagaagggtccctgcaaag	18	3	13	7	1	0	4	0	0	0	4	1	6	1	4	1	1	4	3	1	1	8	1	rs200484699		TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr17:35345870C>T	ENST00000225402.5	+	6	1251	c.1000C>T	c.(1000-1002)Cga>Tga	p.R334*		NM_012138.3	NP_036270.1	Q9NY61	AATF_HUMAN	apoptosis antagonizing transcription factor	334	RB1 binding.				apoptotic signaling pathway (GO:0097190)|cell adhesion (GO:0007155)|cellular response to DNA damage stimulus (GO:0006974)|embryonic cleavage (GO:0040016)|negative regulation of amyloid precursor protein biosynthetic process (GO:0042985)|negative regulation of apoptotic process (GO:0043066)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of superoxide anion generation (GO:0032929)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of mitotic cell cycle (GO:0007346)|ribosome biogenesis (GO:0042254)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleus (GO:0005634)	leucine zipper domain binding (GO:0043522)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(2)|endometrium(1)|large_intestine(4)|lung(7)|ovary(2)|skin(2)	18		Breast(25;0.00607)				GAAGCAGCAACGAAGAAGGGT	0.448																																					NSCLC(49;901 1159 19183 41572 46244)	ENST00000225402.5																			0				cervix(2)|endometrium(1)|large_intestine(4)|lung(7)|ovary(2)|skin(2)	18						c.(1000-1002)Cga>Tga		apoptosis antagonizing transcription factor		C	stop/ARG	0,4406		0,0,2203	73	73	73		1000	1.3	0.2	17		73	2,8598	2.2+/-6.3	0,2,4298	yes	stop-gained	AATF	NM_012138.3		0,2,6501	TT,TC,CC		0.0233,0.0,0.0154		334/561	35345870	2,13004	2203	4300	6503	SO:0001587	stop_gained	26574				anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|negative regulation of superoxide anion generation|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to DNA damage stimulus	centrosome|focal adhesion|nucleolus	leucine zipper domain binding|sequence-specific DNA binding transcription factor activity	g.chr17:35345870C>T	AF083208	CCDS32632.1	17q12	2014-05-06			ENSG00000108270	ENSG00000275700			19235	protein-coding gene	gene with protein product		608463				11027528, 10783144	Standard	NM_012138		Approved	DED, CHE-1, CHE1, BFR2	uc002hni.3	Q9NY61	OTTHUMG00000188458	ENST00000225402.5:c.1000C>T	17.37:g.35345870C>T	ENSP00000225402:p.Arg334*						p.R334*	NM_012138.3	NP_036270.1	Q9NY61	AATF_HUMAN			6	1251	+		Breast(25;0.00607)	334			RB1 binding.		A6NCJ6|B3KQ26|Q9P0A4|Q9UNX5	Nonsense_Mutation	SNP	ENST00000225402.5	37	c.1000C>T	CCDS32632.1	.	.	.	.	.	.	.	.	.	.	C	15.28	2.786142	0.49997	0.0	2.33E-4	ENSG00000108270	ENST00000225402	.	.	.	1.28	1.28	0.21552	.	0.511548	0.22782	N	0.055716	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.15952	T	0.53	.	6.3191	0.21206	0.0:1.0:0.0:0.0	.	.	.	.	X	334	.	ENSP00000225402:R334X	R	+	1	2	AATF	32419983	0.828000	0.29307	0.224000	0.23877	0.016000	0.09150	0.441000	0.21611	0.556000	0.29098	0.561000	0.74099	CGA		0.448	AATF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451543.1	NM_012138		4	37	0	0	0	1	0	4	37					T	35345870	C	T	35345870	4	4	286	1	0	0	0	0	0	1	0	0	25	528	19	1	1022	1	AATF	17	35345870	Nonsense_Mutation	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	1174082	35345870	45849340	550	13680											
MLLT6	4302	broad.mit.edu	37	chr17	36880921	36880921	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tccagcagatccagcagaaaCgggagctgcagcgcctgcag	11	4	13	13	2	0	2	0	0	0	2	2	3	2	3	3	1	7	5	3	1	1	0			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr17:36880921C>T	ENST00000325718.7	+	19	3023	c.2932C>T	c.(2932-2934)Cgg>Tgg	p.R978W		NM_005937.3	NP_005928	P55198	AF17_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 6	978	Gln-rich.				regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(3)|lung(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	8	Breast(7;4.43e-21)					CCAGCAGAAACGGGAGCTGCA	0.652			T	MLL	AL																																	ENST00000325718.7				Dom	yes		17	17q21	4302	T	"myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 6 (AF17)"			L	MLL		AL		0				breast(3)|lung(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	8						c.(2932-2934)Cgg>Tgg		myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 6							20	22	21					17																	36880921		2203	4300	6503	SO:0001583	missense	4302				regulation of transcription, DNA-dependent	nucleus	protein binding|zinc ion binding	g.chr17:36880921C>T		CCDS11327.1	17q21	2014-04-10	2001-11-28		ENSG00000108292	ENSG00000275023		"Zinc fingers, PHD-type"	7138	protein-coding gene	gene with protein product	"Myeloid/lymphoid or mixed-lineage leukemia, translocated to, 6", "trithorax homolog"	600328	"myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 6"			8058765	Standard	NM_005937		Approved	AF17, FLJ23480	uc002hqi.4	P55198	OTTHUMG00000188498	ENST00000325718.7:c.2932C>T	17.37:g.36880921C>T	ENSP00000316426:p.Arg978Trp						p.R978W	NM_005937.3	NP_005928.2	P55198	AF17_HUMAN			19	3023	+	Breast(7;4.43e-21)		978			Gln-rich.		Q59F28|Q96IU3|Q9H5F6|Q9UF49	Missense_Mutation	SNP	ENST00000325718.7	37	c.2932C>T	CCDS11327.1	.	.	.	.	.	.	.	.	.	.	C	15.37	2.812357	0.50527	.	.	ENSG00000108292	ENST00000325718	T	0.57436	0.4	5.19	4.21	0.49690	.	0.145914	0.30649	N	0.009168	T	0.64746	0.2626	L	0.50333	1.59	0.45239	D	0.998249	D	0.89917	1.0	D	0.77557	0.99	T	0.67051	-0.5768	10	0.66056	D	0.02	.	11.6235	0.51132	0.4266:0.5734:0.0:0.0	.	978	P55198	AF17_HUMAN	W	978	ENSP00000316426:R978W	ENSP00000316426:R978W	R	+	1	2	MLLT6	34134447	0.993000	0.37304	1.000000	0.80357	0.997000	0.91878	0.215000	0.17562	1.539000	0.49286	0.655000	0.94253	CGG		0.652	MLLT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256799.1	NM_005937		3	27	0	0	0	1	0	3	27					T	36880921	C	T	36880921	3	4	286	1	0	0	0	0	1	0	0	0	9630	527	19	1	3006	1	MLLT6	17	36880921	Missense_Mutation	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	1535051	36880921	44314289	551	13681											
PCGF2	7703	broad.mit.edu	37	chr17	36895857	36895857	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acctgatgctcagcagcggcCgggttttatggacctgcacg	7	9	13	12	3	1	1	1	1	0	0	1	2	1	2	3	3	4	4	3	3	1	2			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr17:36895857C>T	ENST00000580830.1	-	5	892	c.191G>A	c.(190-192)cGg>cAg	p.R64Q	PCGF2_ENST00000585100.1_Missense_Mutation_p.R64Q|PCGF2_ENST00000578109.1_Missense_Mutation_p.R10Q|PCGF2_ENST00000579882.1_Missense_Mutation_p.R64Q|PCGF2_ENST00000581345.1_Missense_Mutation_p.R64Q|PCGF2_ENST00000360797.2_Missense_Mutation_p.R64Q			P35227	PCGF2_HUMAN	polycomb group ring finger 2	64					anterior/posterior pattern specification (GO:0009952)|cellular response to hydrogen peroxide (GO:0070301)|embryonic skeletal system morphogenesis (GO:0048704)|histone acetylation (GO:0016573)|in utero embryonic development (GO:0001701)|negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nuclear body (GO:0016604)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)|sex chromatin (GO:0001739)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|skin(1)	10	Breast(7;9.07e-22)					CAGCAGCGGCCGGGTTTTATG	0.612																																						ENST00000580830.1																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|skin(1)	10						c.(190-192)cGg>cAg		polycomb group ring finger 2							144	116	125					17																	36895857		2203	4300	6503	SO:0001583	missense	7703				negative regulation of transcription from RNA polymerase II promoter	PcG protein complex	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr17:36895857C>T	D13969	CCDS32638.1	17q12	2013-01-09	2005-01-17	2005-01-19		ENSG00000277258		"RING-type (C3HC4) zinc fingers", "Polycomb group ring fingers"	12929	protein-coding gene	gene with protein product		600346	"ring finger protein 110"	ZNF144, RNF110		8325509	Standard	NM_007144		Approved	MEL-18	uc002hqp.1	P35227		ENST00000580830.1:c.191G>A	17.37:g.36895857C>T	ENSP00000461961:p.Arg64Gln					PCGF2_ENST00000581345.1_Missense_Mutation_p.R64Q|PCGF2_ENST00000360797.2_Missense_Mutation_p.R64Q|PCGF2_ENST00000579882.1_Missense_Mutation_p.R64Q|PCGF2_ENST00000585100.1_Missense_Mutation_p.R64Q|PCGF2_ENST00000578109.1_Missense_Mutation_p.R10Q	p.R64Q			P35227	PCGF2_HUMAN			5	892	-	Breast(7;9.07e-22)		64					A6NGD8	Missense_Mutation	SNP	ENST00000580830.1	37	c.191G>A	CCDS32638.1	.	.	.	.	.	.	.	.	.	.	C	14.67	2.603293	0.46423	.	.	ENSG00000056661	ENST00000360797	T	0.41758	0.99	4.56	4.56	0.56223	Zinc finger, RING/FYVE/PHD-type (1);	0.070142	0.64402	D	0.000017	T	0.30103	0.0754	L	0.31578	0.945	0.38636	D	0.9515	B	0.27882	0.192	B	0.21546	0.035	T	0.13872	-1.0493	10	0.20046	T	0.44	-9.2425	14.8624	0.70392	0.0:1.0:0.0:0.0	.	64	P35227	PCGF2_HUMAN	Q	64	ENSP00000354033:R64Q	ENSP00000354033:R64Q	R	-	2	0	PCGF2	34149383	0.030000	0.19436	0.495000	0.27527	0.907000	0.53573	2.863000	0.48396	2.364000	0.80123	0.491000	0.48974	CGG		0.612	PCGF2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442246.2	NM_007144		13	84	0	0	0	1	0	13	84					T	36895857	C	T	36895857	3	4	286	1	0	0	0	0	1	0	0	0	11575	652	23	2	875	2	PCGF2	17	36895857	Missense_Mutation	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	14936	36895857	44299353	552	13682											
MED1	5469	broad.mit.edu	37	chr17	37564024	37564024	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tggaagtggtcggataccatCgtctgagctgggactattct	8	12	13	8	2	2	1	0	1	2	0	4	4	2	4	1	4	2	1	1	4	3	3			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr17:37564024C>T	ENST00000300651.6	-	17	4673	c.4450G>A	c.(4450-4452)Gat>Aat	p.D1484N	MED1_ENST00000394287.3_Intron|CTB-131K11.1_ENST00000582842.1_RNA	NM_004774.3	NP_004765.2	O95243	MBD4_HUMAN	mediator complex subunit 1	0					base-excision repair (GO:0006284)|base-excision repair, AP site formation (GO:0006285)|depyrimidination (GO:0045008)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|mitotic G2 DNA damage checkpoint (GO:0007095)|response to radiation (GO:0009314)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	endodeoxyribonuclease activity (GO:0004520)|pyrimidine-specific mismatch base pair DNA N-glycosylase activity (GO:0008263)|satellite DNA binding (GO:0003696)			NS(1)|breast(2)|cervix(3)|kidney(3)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(7)|urinary_tract(1)	59		Ovarian(249;1.78e-06)|Lung SC(565;0.0262)	Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146)	UCEC - Uterine corpus endometrioid carcinoma (308;6.64e-05)|BRCA - Breast invasive adenocarcinoma(366;0.00136)|READ - Rectum adenocarcinoma(1115;0.0649)		CGGATACCATCGTCTGAGCTG	0.448										HNSCC(31;0.082)																											Pancreas(21;279 768 2492 4877 24026)	ENST00000300651.6																			0				NS(1)|breast(2)|cervix(3)|kidney(3)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(7)|urinary_tract(1)	59						c.(4450-4452)Gat>Aat		mediator complex subunit 1							96	90	92					17																	37564024		2203	4300	6503	SO:0001583	missense	5469				androgen biosynthetic process|androgen receptor signaling pathway|cellular lipid metabolic process|fat cell differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription initiation from RNA polymerase II promoter	mediator complex	DNA binding|estrogen receptor binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|peroxisome proliferator activated receptor binding|receptor activity|retinoic acid receptor binding|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	g.chr17:37564024C>T	L40366	CCDS11336.1	17q12	2007-07-30	2007-07-30	2007-07-30	ENSG00000125686	ENSG00000125686			9234	protein-coding gene	gene with protein product		604311	"PPAR binding protein"	TRIP2, PPARGBP, PPARBP		9325263, 10485914	Standard	NM_004774		Approved	PBP, TRAP220, RB18A, DRIP230, CRSP200, CRSP1	uc002hrv.4	Q15648	OTTHUMG00000133216	ENST00000300651.6:c.4450G>A	17.37:g.37564024C>T	ENSP00000300651:p.Asp1484Asn	HNSCC(31;0.082)				MED1_ENST00000394287.3_Intron	p.D1484N	NM_004774.3	NP_004765.2	Q15648	MED1_HUMAN	Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146)	UCEC - Uterine corpus endometrioid carcinoma (308;6.64e-05)|BRCA - Breast invasive adenocarcinoma(366;0.00136)|READ - Rectum adenocarcinoma(1115;0.0649)	17	4673	-		Ovarian(249;1.78e-06)|Lung SC(565;0.0262)	1484					B4DZN2|D3DNC3|D3DNC4|E9PEE4|Q2MD36|Q7Z4T3|Q96F09	Missense_Mutation	SNP	ENST00000300651.6	37	c.4450G>A	CCDS11336.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.128615	0.77549	.	.	ENSG00000125686	ENST00000300651	T	0.51325	0.71	4.88	4.88	0.63580	.	.	.	.	.	T	0.58836	0.2150	L	0.29908	0.895	0.58432	D	0.999997	D	0.89917	1.0	D	0.81914	0.995	T	0.61133	-0.7124	9	0.56958	D	0.05	-8.6684	18.5898	0.91206	0.0:1.0:0.0:0.0	.	1484	Q15648	MED1_HUMAN	N	1484	ENSP00000300651:D1484N	ENSP00000300651:D1484N	D	-	1	0	MED1	34817550	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	7.578000	0.82498	2.691000	0.91804	0.561000	0.74099	GAT		0.448	MED1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256943.3	NM_004774		7	31	0	0	0	1	0	7	31					T	37564024	C	T	37564024	3	4	286	1	0	0	0	0	1	0	0	0	9425	884	31	2	299	2	MED1	17	37564024	Missense_Mutation	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	668167	37564024	43631186	553	13683											
NR1D1	7067	broad.mit.edu	37	chr17	38249345	38249345	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggccgggcgggtcactgggcGtccacccggaaggacagcag	7	3	18	13	4	1	0	1	0	0	0	2	2	2	2	3	6	1	1	3	6	1	0	rs199759695		TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr17:38249345G>A	ENST00000264637.4	+	10	1763	c.1183G>A	c.(1183-1185)Gtc>Atc	p.V395I	THRA_ENST00000394121.4_Missense_Mutation_p.V395I|NR1D1_ENST00000246672.3_Silent_p.D612D|THRA_ENST00000584985.1_Intron	NM_003250.5	NP_003241.2	P10827	THA_HUMAN	thyroid hormone receptor, alpha	395					cartilage condensation (GO:0001502)|cytoplasmic sequestering of transcription factor (GO:0042994)|erythrocyte differentiation (GO:0030218)|female courtship behavior (GO:0008050)|gene expression (GO:0010467)|hormone-mediated signaling pathway (GO:0009755)|learning or memory (GO:0007611)|negative regulation of DNA-templated transcription, initiation (GO:2000143)|negative regulation of RNA polymerase II transcriptional preinitiation complex assembly (GO:0017055)|negative regulation of transcription, DNA-templated (GO:0045892)|ossification (GO:0001503)|positive regulation of female receptivity (GO:0045925)|positive regulation of myotube differentiation (GO:0010831)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of heart contraction (GO:0008016)|regulation of lipid catabolic process (GO:0050994)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of thyroid hormone mediated signaling pathway (GO:0002155)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to cold (GO:0009409)|thyroid gland development (GO:0030878)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|Type I pneumocyte differentiation (GO:0060509)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|protein domain specific binding (GO:0019904)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|steroid receptor RNA activator RNA binding (GO:0002153)|TBP-class protein binding (GO:0017025)|thyroid hormone binding (GO:0070324)|thyroid hormone receptor activity (GO:0004887)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(3)|large_intestine(2)|lung(4)|prostate(1)	11	Colorectal(19;0.000442)	Myeloproliferative disorder(1115;0.0255)			Dextrothyroxine(DB00509)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)	GTCACTGGGCGTCCACCCGGA	0.592																																						ENST00000264637.4																			0				endometrium(1)|kidney(3)|large_intestine(2)|lung(4)|prostate(1)	11						c.(1183-1185)Gtc>Atc		thyroid hormone receptor, alpha	Levothyroxine(DB00451)|Liothyronine(DB00279)	G	,,ILE/VAL,ILE/VAL	0,4406		0,0,2203	49	52	51		,1836,1183,1183	4	1	17		51	1,8599	1.2+/-3.3	0,1,4299	no	intron,coding-synonymous,missense,missense	THRA,NR1D1	NM_001190918.1,NM_021724.3,NM_003250.5,NM_001190919.1	,,29,29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,,benign,benign	,612/615,395/491,395/491	38249345	1,13005	2203	4300	6503	SO:0001583	missense	7067				negative regulation of RNA polymerase II transcriptional preinitiation complex assembly|negative regulation of transcription initiation, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription from RNA polymerase II promoter	cytosol|nucleoplasm	protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|TBP-class protein binding|thyroid hormone binding|thyroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr17:38249345G>A	J03239	CCDS11360.1, CCDS42316.1, CCDS58546.1	17q21.1	2013-01-16	2011-05-19		ENSG00000126351	ENSG00000126351		"Nuclear hormone receptors"	11796	protein-coding gene	gene with protein product		190120	"thyroid hormone receptor, alpha (avian erythroblastic leukemia viral (v-erb-a) oncogene homolog)", "thyroid hormone receptor, alpha (erythroblastic leukemia viral (v-erb-a) oncogene homolog, avian)"	THRA1, THRA2, ERBA1		6323162, 6589608	Standard	NM_003250		Approved	EAR-7.1/EAR-7.2, THRA3, AR7, ERBA, NR1A1	uc002htw.3	P10827	OTTHUMG00000133332	ENST00000264637.4:c.1183G>A	17.37:g.38249345G>A	ENSP00000264637:p.Val395Ile					THRA_ENST00000584985.1_Intron|NR1D1_ENST00000246672.3_Silent_p.D612D|THRA_ENST00000394121.4_Missense_Mutation_p.V395I	p.V395I	NM_003250.5	NP_003241.2	P10827	THA_HUMAN			10	1763	+	Colorectal(19;0.000442)	Myeloproliferative disorder(1115;0.0255)	395					A8K3B5|P21205|Q8N6A1|Q96H73	Missense_Mutation	SNP	ENST00000264637.4	37	c.1183G>A	CCDS11360.1	.	.	.	.	.	.	.	.	.	.	G	10.68	1.419551	0.25552	0.0	1.16E-4	ENSG00000126351	ENST00000394121;ENST00000264637	D;D	0.92699	-3.09;-3.09	5.05	4.02	0.46733	.	.	.	.	.	T	0.80607	0.4655	N	0.08118	0	0.80722	D	1	B	0.10296	0.003	B	0.04013	0.001	T	0.75405	-0.3329	9	0.49607	T	0.09	.	5.0192	0.14352	0.2556:0.0:0.7444:0.0	.	395	P10827	THA_HUMAN	I	395	ENSP00000377679:V395I;ENSP00000264637:V395I	ENSP00000264637:V395I	V	+	1	0	THRA	35502871	0.926000	0.31397	1.000000	0.80357	0.998000	0.95712	0.337000	0.19841	2.618000	0.88619	0.563000	0.77884	GTC		0.592	THRA-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000257160.2			5	56	0	0	0	1	0	5	56					A	38249345	G	A	38249345	3	1	286	1	0	0	0	0	1	0	0	0	10615	1145	40	1	12	1	NR1D1	17	38249345	Missense_Mutation	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	685321	38249345	42945865	554	13684											
TOP2A	7153	broad.mit.edu	37	chr17	38557133	38557133	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gttcttctccatccatcaaaCgcctgatgttatttacaatt	10	16	4	11	1	3	1	1	1	2	0	5	1	4	1	3	0	2	2	3	0	4	6	rs548652478		TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr17:38557133C>T	ENST00000423485.1	-	21	2791	c.2633G>A	c.(2632-2634)cGt>cAt	p.R878H		NM_001067.3	NP_001058.2	P11388	TOP2A_HUMAN	topoisomerase (DNA) II alpha 170kDa	878					apoptotic chromosome condensation (GO:0030263)|ATP catabolic process (GO:0006200)|cellular response to DNA damage stimulus (GO:0006974)|chromosome segregation (GO:0007059)|DNA ligation (GO:0006266)|DNA topological change (GO:0006265)|DNA unwinding involved in DNA replication (GO:0006268)|embryonic cleavage (GO:0040016)|hematopoietic progenitor cell differentiation (GO:0002244)|mitotic cell cycle (GO:0000278)|mitotic DNA integrity checkpoint (GO:0044774)|mitotic recombination (GO:0006312)|positive regulation of apoptotic process (GO:0043065)|positive regulation of single stranded viral RNA replication via double stranded DNA intermediate (GO:0045870)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of viral genome replication (GO:0045070)|resolution of meiotic recombination intermediates (GO:0000712)|sister chromatid segregation (GO:0000819)	condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|DNA topoisomerase complex (ATP-hydrolyzing) (GO:0009330)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA binding, bending (GO:0008301)|DNA topoisomerase type II (ATP-hydrolyzing) activity (GO:0003918)|DNA-dependent ATPase activity (GO:0008094)|drug binding (GO:0008144)|enzyme binding (GO:0019899)|histone deacetylase binding (GO:0042826)|magnesium ion binding (GO:0000287)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase C binding (GO:0005080)|ubiquitin binding (GO:0043130)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(9)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	39		Breast(137;0.00328)	STAD - Stomach adenocarcinoma(5;0.00183)		Amsacrine(DB00276)|Ciprofloxacin(DB00537)|Dactinomycin(DB00970)|Daunorubicin(DB00694)|Dexrazoxane(DB00380)|Doxorubicin(DB00997)|Enoxacin(DB00467)|Epirubicin(DB00445)|Etoposide(DB00773)|Fleroxacin(DB04576)|Idarubicin(DB01177)|Levofloxacin(DB01137)|Lomefloxacin(DB00978)|Lucanthone(DB04967)|Mitoxantrone(DB01204)|Moxifloxacin(DB00218)|Norfloxacin(DB01059)|Ofloxacin(DB01165)|Pefloxacin(DB00487)|Podofilox(DB01179)|Sparfloxacin(DB01208)|Teniposide(DB00444)|Trovafloxacin(DB00685)|Valrubicin(DB00385)	ATCCATCAAACGCCTGATGTT	0.408													C|||	1	0.000199681	0	0	5008	,	,		19469	0		0	False		,,,				2504	0.001					ENST00000423485.1																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(9)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	39						c.(2632-2634)cGt>cAt		topoisomerase (DNA) II alpha 170kDa	Amsacrine(DB00276)|Ciprofloxacin(DB00537)|Dexrazoxane(DB00380)|Doxorubicin(DB00997)|Enoxacin(DB00467)|Epirubicin(DB00445)|Etoposide(DB00773)|Fleroxacin(DB04576)|Gatifloxacin(DB01044)|Idarubicin(DB01177)|Levofloxacin(DB01137)|Lomefloxacin(DB00978)|Lucanthone(DB04967)|Mitoxantrone(DB01204)|Moxifloxacin(DB00218)|Norfloxacin(DB01059)|Ofloxacin(DB01165)|Pefloxacin(DB00487)|Podofilox(DB01179)|Sparfloxacin(DB01208)|Teniposide(DB00444)|Trovafloxacin(DB00685)|Valrubicin(DB00385)						246	237	240					17																	38557133		1904	4127	6031	SO:0001583	missense	7153				apoptotic chromosome condensation|DNA ligation|DNA repair|DNA topological change|DNA-dependent DNA replication|mitotic cell cycle G2/M transition decatenation checkpoint|mitotic recombination|phosphatidylinositol-mediated signaling|positive regulation of apoptosis|positive regulation of retroviral genome replication|resolution of meiotic recombination intermediates|sister chromatid segregation	cytoplasm|DNA topoisomerase complex (ATP-hydrolyzing)|nucleolus|nucleoplasm|synaptonemal complex	ATP binding|chromatin binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA-dependent ATPase activity|drug binding|histone deacetylase binding|protein C-terminus binding|protein heterodimerization activity|protein homodimerization activity|protein kinase C binding|sequence-specific DNA binding transcription factor activity|ubiquitin binding	g.chr17:38557133C>T		CCDS45672.1	17q21-q22	2008-08-06	2002-08-29		ENSG00000131747	ENSG00000131747	5.99.1.2		11989	protein-coding gene	gene with protein product		126430	"topoisomerase (DNA) II alpha (170kD)"	TOP2			Standard	NM_001067		Approved		uc002huq.3	P11388	OTTHUMG00000155008	ENST00000423485.1:c.2633G>A	17.37:g.38557133C>T	ENSP00000411532:p.Arg878His						p.R878H	NM_001067.3	NP_001058.2	P11388	TOP2A_HUMAN	STAD - Stomach adenocarcinoma(5;0.00183)		21	2791	-		Breast(137;0.00328)	878					B2RTS1|Q71UN1|Q71UQ5|Q9HB24|Q9HB25|Q9HB26|Q9UP44|Q9UQP9	Missense_Mutation	SNP	ENST00000423485.1	37	c.2633G>A	CCDS45672.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.073207	0.76415	.	.	ENSG00000131747	ENST00000423485;ENST00000269577;ENST00000348049;ENST00000357601	T	0.25912	1.77	5.21	3.17	0.36434	DNA topoisomerase, type IIA, subunit A/C-terminal (2);DNA topoisomerase, type IIA, subunit A/ C-terminal, alpha-beta (1);DNA topoisomerase, type IIA, central (1);	0.049633	0.85682	D	0.000000	T	0.37544	0.1007	M	0.78285	2.405	0.58432	D	0.999998	P	0.47545	0.897	P	0.46659	0.523	T	0.40346	-0.9568	10	0.52906	T	0.07	.	14.4209	0.67183	0.2699:0.7301:0.0:0.0	.	878	P11388	TOP2A_HUMAN	H	878;958;901;914	ENSP00000411532:R878H	ENSP00000269577:R958H	R	-	2	0	TOP2A	35810659	0.987000	0.35691	0.933000	0.37362	0.978000	0.69477	3.256000	0.51492	0.658000	0.30925	0.467000	0.42956	CGT		0.408	TOP2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338035.1			34	154	0	0	0	1	0	34	154					T	38557133	C	T	38557133	3	4	286	1	0	0	0	0	1	0	0	0	16362	536	19	1	2022	1	TOP2A	17	38557133	Missense_Mutation	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	307788	38557133	42638077	555	13685											
CCR7	1236	broad.mit.edu	37	chr17	38711044	38711044	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccacactcatggaggagcGccggatgtgccgacaggaag	10	5	14	12	3	1	0	1	0	0	0	2	5	2	4	3	4	2	0	3	4	1	0			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr17:38711044G>A	ENST00000246657.2	-	3	1149	c.1087C>T	c.(1087-1089)Cgc>Tgc	p.R363C	CCR7_ENST00000579344.1_Missense_Mutation_p.R357C	NM_001838.3	NP_001829.1	P32248	CCR7_HUMAN	chemokine (C-C motif) receptor 7	363					activation of Rho GTPase activity (GO:0032862)|cellular response to cytokine stimulus (GO:0071345)|chemokine (C-C motif) ligand 19 signaling pathway (GO:0038115)|chemokine (C-C motif) ligand 21 signaling pathway (GO:0038116)|chemokine-mediated signaling pathway (GO:0070098)|dendritic cell chemotaxis (GO:0002407)|establishment of T cell polarity (GO:0001768)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|interleukin-12 secretion (GO:0072610)|lymphocyte migration into lymph node (GO:0097022)|mature dendritic cell differentiation (GO:0097029)|myeloid dendritic cell chemotaxis (GO:0002408)|negative regulation of leukocyte apoptotic process (GO:2000107)|negative thymic T cell selection (GO:0045060)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell motility (GO:2000147)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of dendritic cell antigen processing and presentation (GO:0002606)|positive regulation of dendritic cell chemotaxis (GO:2000510)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of glycoprotein biosynthetic process involved in immunological synapse formation (GO:2000526)|positive regulation of humoral immune response (GO:0002922)|positive regulation of hypersensitivity (GO:0002885)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of immunological synapse formation (GO:2000522)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of JNK cascade (GO:0046330)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of pseudopodium assembly (GO:0031274)|positive regulation of T cell costimulation (GO:2000525)|positive regulation of T cell receptor signaling pathway (GO:0050862)|regulation of dendritic cell dendrite assembly (GO:2000547)|regulation of interferon-gamma production (GO:0032649)|regulation of interleukin-1 beta secretion (GO:0050706)|release of sequestered calcium ion into cytosol (GO:0051209)|response to lipopolysaccharide (GO:0032496)|response to nitric oxide (GO:0071731)|response to prostaglandin E (GO:0034695)|ruffle organization (GO:0031529)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	C-C chemokine receptor activity (GO:0016493)|C-C motif chemokine 19 receptor activity (GO:0038117)|C-C motif chemokine 21 receptor activity (GO:0038121)|chemokine (C-C motif) ligand 19 binding (GO:0035757)|chemokine (C-C motif) ligand 21 binding (GO:0035758)|G-protein coupled receptor activity (GO:0004930)			breast(1)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8		Breast(137;0.000496)				ATGGAGGAGCGCCGGATGTGC	0.632																																						ENST00000246657.2																			0				breast(1)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8						c.(1087-1089)Cgc>Tgc		chemokine (C-C motif) receptor 7							66	65	65					17																	38711044		2203	4300	6503	SO:0001583	missense	1236				cell maturation|immunological synapse formation|inflammatory response|interleukin-12 secretion|lymphocyte migration into lymph node|positive regulation of dendritic cell antigen processing and presentation|positive regulation of glycoprotein biosynthetic process|positive regulation of humoral immune response|positive regulation of hypersensitivity|positive regulation of interleukin-12 production|positive regulation of neutrophil chemotaxis|regulation of interferon-gamma production|regulation of interleukin-1 beta secretion|T cell costimulation	integral to membrane|intracellular	C-C chemokine receptor activity|chemokine (C-C motif) ligand 19 binding|chemokine (C-C motif) ligand 21 binding	g.chr17:38711044G>A		CCDS11369.1	17q12-q21.2	2012-08-08			ENSG00000126353	ENSG00000126353		"GPCR / Class A : Chemokine receptors : C-C motif", "CD molecules"	1608	protein-coding gene	gene with protein product		600242		CMKBR7, EBI1		8383238	Standard	NM_001838		Approved	BLR2, CDw197, CD197	uc002huw.3	P32248	OTTHUMG00000133375	ENST00000246657.2:c.1087C>T	17.37:g.38711044G>A	ENSP00000246657:p.Arg363Cys					CCR7_ENST00000579344.1_Missense_Mutation_p.R357C	p.R363C	NM_001838.3	NP_001829.1	P32248	CCR7_HUMAN			3	1149	-		Breast(137;0.000496)	363						Missense_Mutation	SNP	ENST00000246657.2	37	c.1087C>T	CCDS11369.1	.	.	.	.	.	.	.	.	.	.	G	13.42	2.230912	0.39399	.	.	ENSG00000126353	ENST00000246657	T	0.61392	0.11	5.73	3.68	0.42216	.	1.356510	0.04979	N	0.465273	T	0.64951	0.2645	M	0.68593	2.085	0.50313	D	0.999861	D	0.55605	0.972	P	0.44561	0.453	T	0.58572	-0.7613	10	0.87932	D	0	.	14.5371	0.67969	0.0:0.0:0.4982:0.5018	.	363	P32248	CCR7_HUMAN	C	363	ENSP00000246657:R363C	ENSP00000246657:R363C	R	-	1	0	CCR7	35964570	1.000000	0.71417	0.294000	0.24946	0.294000	0.27393	2.775000	0.47702	0.718000	0.32166	0.555000	0.69702	CGC		0.632	CCR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257222.1			16	70	0	0	0	1	0	16	70					A	38711044	G	A	38711044	3	1	286	1	0	0	0	0	1	0	0	0	2946	1087	38	1	53	1	CCR7	17	38711044	Missense_Mutation	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	153911	38711044	42484166	556	13686											
STAT3	6774	broad.mit.edu	37	chr17	40474485	40474485	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcagctgctgctttgtgtatGgttccacggactggatctgg	5	14	13	9	1	2	0	1	0	1	0	3	2	3	2	1	4	3	5	1	4	1	3			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr17:40474485G>A	ENST00000264657.5	-	21	2228	c.1916C>T	c.(1915-1917)cCa>cTa	p.P639L	STAT3_ENST00000389272.3_Missense_Mutation_p.P541L|STAT3_ENST00000588969.1_Missense_Mutation_p.P639L|STAT3_ENST00000585517.1_Missense_Mutation_p.P639L|STAT3_ENST00000404395.3_Missense_Mutation_p.P639L	NM_003150.3|NM_139276.2	NP_003141.2|NP_644805.1	P40763	STAT3_HUMAN	signal transducer and activator of transcription 3 (acute-phase response factor)	639	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				acute-phase response (GO:0006953)|astrocyte differentiation (GO:0048708)|cell proliferation (GO:0008283)|cellular component movement (GO:0006928)|cellular response to hormone stimulus (GO:0032870)|cytokine-mediated signaling pathway (GO:0019221)|eating behavior (GO:0042755)|eye photoreceptor cell differentiation (GO:0001754)|glucose homeostasis (GO:0042593)|growth hormone receptor signaling pathway (GO:0060396)|interleukin-6-mediated signaling pathway (GO:0070102)|intracellular receptor signaling pathway (GO:0030522)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|negative regulation of cell death (GO:0060548)|negative regulation of cell proliferation (GO:0008285)|negative regulation of glycolytic process (GO:0045820)|negative regulation of neuron migration (GO:2001223)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphorylation (GO:0016310)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein import into nucleus (GO:0006606)|radial glial cell differentiation (GO:0060019)|regulation of multicellular organism growth (GO:0040014)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|sexual reproduction (GO:0019953)|signal transduction (GO:0007165)|stem cell maintenance (GO:0019827)|temperature homeostasis (GO:0001659)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein dimerization activity (GO:0046983)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|RNA polymerase II repressing transcription factor binding (GO:0001103)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		all_cancers(22;1.39e-06)|all_epithelial(22;2.95e-05)|Breast(137;0.000135)		BRCA - Breast invasive adenocarcinoma(366;0.139)		CTTTGTGTATGGTTCCACGGA	0.453									Hyperimmunoglobulin E Recurrent Infection Syndrome																													ENST00000264657.5																			0				breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						c.(1915-1917)cCa>cTa		signal transducer and activator of transcription 3 (acute-phase response factor)							237	208	218					17																	40474485		2203	4300	6503	SO:0001583	missense	6774	Hyperimmunoglobulin E Recurrent Infection Syndrome	Familial Cancer Database	HIES, Hyper IgE syndrome, autosomal dominant (Job syndrome) / recessive	cellular component movement|eating behavior|eye photoreceptor cell differentiation|glucose homeostasis|interleukin-6-mediated signaling pathway|interspecies interaction between organisms|JAK-STAT cascade involved in growth hormone signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|protein import into nucleus|response to estradiol stimulus|sexual reproduction|temperature homeostasis	cytosol|nucleus|plasma membrane	calcium ion binding|ligand-regulated transcription factor activity|protein dimerization activity|protein kinase binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription factor binding|transcription regulatory region DNA binding	g.chr17:40474485G>A	BC014482	CCDS32656.1, CCDS32657.1, CCDS59288.1	17q21	2014-09-17			ENSG00000168610	ENSG00000168610		"SH2 domain containing"	11364	protein-coding gene	gene with protein product		102582				7512451	Standard	NM_139276		Approved	APRF	uc002hzl.1	P40763	OTTHUMG00000150645	ENST00000264657.5:c.1916C>T	17.37:g.40474485G>A	ENSP00000264657:p.Pro639Leu					STAT3_ENST00000585517.1_Missense_Mutation_p.P639L|STAT3_ENST00000389272.3_Missense_Mutation_p.P541L|STAT3_ENST00000588969.1_Missense_Mutation_p.P639L|STAT3_ENST00000404395.3_Missense_Mutation_p.P639L	p.P639L	NM_003150.3|NM_139276.2	NP_003141.2|NP_644805.1	P40763	STAT3_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.139)	21	2228	-		all_cancers(22;1.39e-06)|all_epithelial(22;2.95e-05)|Breast(137;0.000135)	639			SH2.		A8K7B8|K7ENL3|O14916|Q9BW54	Missense_Mutation	SNP	ENST00000264657.5	37	c.1916C>T	CCDS32656.1	.	.	.	.	.	.	.	.	.	.	G	23.3	4.404148	0.83230	.	.	ENSG00000168610	ENST00000264657;ENST00000389272;ENST00000404395	D;D;D	0.99207	-5.56;-5.56;-5.56	4.64	4.64	0.57946	SH2 motif (4);	0.000000	0.85682	D	0.000000	D	0.99411	0.9792	M	0.84326	2.69	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.85130	0.996;0.997;0.997	D	0.98715	1.0706	10	0.87932	D	0	-17.2289	17.7038	0.88303	0.0:0.0:1.0:0.0	.	639;639;639	P40763-2;P40763;B5BTZ6	.;STAT3_HUMAN;.	L	639;541;639	ENSP00000264657:P639L;ENSP00000373923:P541L;ENSP00000384943:P639L	ENSP00000264657:P639L	P	-	2	0	STAT3	37728011	1.000000	0.71417	0.982000	0.44146	0.661000	0.39034	9.657000	0.98554	2.411000	0.81874	0.563000	0.77884	CCA		0.453	STAT3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319353.3	NM_139276, NM_003150		18	82	0	0	0	1	0	18	82					A	40474485	G	A	40474485	3	1	286	1	0	0	0	0	1	0	0	0	15265	1348	47	3	412	3	STAT3	17	40474485	Missense_Mutation	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	1763441	40474485	40720725	557	13687											
ANKFN1	162282	broad.mit.edu	37	chr17	54428180	54428181	+	Frame_Shift_Ins	INS	-	-	A																															aatttacatctctgtcagtcINSaaaaaaacatagtgctccct																										TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr17:54428180_54428181insA	ENST00000318698.2	+	4	286_287	c.251_252insA	c.(250-255)tcaaaafs	p.SK84fs	ANKFN1_ENST00000566473.2_Frame_Shift_Ins_p.SK84fs	NM_153228.2	NP_694960.2	Q8N957	ANKF1_HUMAN	ankyrin-repeat and fibronectin type III domain containing 1	84										NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(11)|lung(27)|ovary(1)|prostate(1)|skin(1)	53						CTCTGTCAGTCAAAAAAACATA	0.426																																						ENST00000566473.2																			0				NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(11)|lung(27)|ovary(1)|prostate(1)|skin(1)	53						c.(250-252)taafs		ankyrin-repeat and fibronectin type III domain containing 1																																				SO:0001589	frameshift_variant	162282							g.chr17:54428180_54428181insA	AK095654	CCDS32686.1	17q23.2	2014-02-12	2005-11-15		ENSG00000153930	ENSG00000153930		"Ankyrin repeat domain containing", "Fibronectin type III domain containing"	26766	protein-coding gene	gene with protein product							Standard	NM_153228		Approved	FLJ38335	uc002iun.1	Q8N957	OTTHUMG00000155010	ENST00000318698.2:c.258dupA	17.37:g.54428187_54428187dupA	ENSP00000321627:p.Ser84fs					ANKFN1_ENST00000318698.2_Frame_Shift_Ins_p.*84fs	p.*84fs			Q8N957	ANKF1_HUMAN			4	251_252	+			84						Frame_Shift_Ins	INS	ENST00000318698.2	37	c.251_252insA	CCDS32686.1																																																																																				0.426	ANKFN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338043.1	NM_153228		13	62						13	62	---	---	---	---	A	54428181	-	A	54428180	7	5	286	1	0	1	1	0	0	0	0	0	625	838	29	0	265	0	ANKFN1	17	54428180	Frame_Shift_Ins	INS	-	TCGA-J9-A52C-01A-11D-A26M-08	13953695	54428180	26767030	558	13688											
TEX14	56155	broad.mit.edu	37	chr17	56688555	56688555	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	actccaggttggtcagcctcGcttcacctggggagatgata	8	10	12	11	1	2	2	2	1	0	1	4	3	3	2	3	4	1	2	3	4	1	3			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr17:56688555G>A	ENST00000240361.8	-	10	1254	c.1169C>T	c.(1168-1170)gCg>gTg	p.A390V	TEX14_ENST00000389934.3_Missense_Mutation_p.A384V|TEX14_ENST00000349033.5_Missense_Mutation_p.A384V			Q8IWB6	TEX14_HUMAN	testis expressed 14	390	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				attachment of spindle microtubules to kinetochore (GO:0008608)|intercellular bridge organization (GO:0043063)|male meiosis (GO:0007140)|mitotic sister chromatid separation (GO:0051306)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of cytokinesis (GO:0032466)|negative regulation of protein binding (GO:0032091)	cell (GO:0005623)|cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|kinetochore (GO:0000776)|midbody (GO:0030496)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)			breast(6)|endometrium(5)|kidney(3)|large_intestine(22)|liver(1)|lung(24)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	81	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GGTCAGCCTCGCTTCACCTGG	0.522																																						ENST00000389934.3																			0				breast(6)|endometrium(5)|kidney(3)|large_intestine(22)|liver(1)|lung(24)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	81						c.(1150-1152)gCg>gTg		testis expressed 14							179	154	163					17																	56688555		2203	4300	6503	SO:0001583	missense	56155					cytoplasm	ATP binding|protein kinase activity	g.chr17:56688555G>A	AF285601	CCDS32692.1, CCDS32693.1, CCDS56042.1	17q22	2013-09-20	2007-03-13		ENSG00000121101	ENSG00000121101			11737	protein-coding gene	gene with protein product	"cancer/testis antigen 113"	605792	"testis expressed sequence 14"			11279525, 12711554	Standard	NM_031272		Approved	CT113	uc010dcz.2	Q8IWB6	OTTHUMG00000179245	ENST00000240361.8:c.1169C>T	17.37:g.56688555G>A	ENSP00000240361:p.Ala390Val					TEX14_ENST00000349033.5_Missense_Mutation_p.A384V|TEX14_ENST00000240361.8_Missense_Mutation_p.A390V	p.A384V	NM_001201457.1|NM_198393.3	NP_001188386.1|NP_938207.2	Q8IWB6	TEX14_HUMAN			10	1268	-	Medulloblastoma(34;0.127)|all_neural(34;0.237)		390			Protein kinase.		A6NH19|Q7RTP3|Q8ND97|Q9BXT9	Missense_Mutation	SNP	ENST00000240361.8	37	c.1151C>T	CCDS56042.1	.	.	.	.	.	.	.	.	.	.	G	23.3	4.397098	0.83120	.	.	ENSG00000121101	ENST00000240361;ENST00000389934;ENST00000349033	T;T;T	0.78246	-1.16;-1.16;-1.16	5.34	5.34	0.76211	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.088293	0.49305	D	0.000150	T	0.78811	0.4342	L	0.56340	1.77	0.44603	D	0.997577	P;P;P	0.40834	0.5;0.73;0.542	B;P;B	0.44772	0.358;0.46;0.244	T	0.78386	-0.2224	10	0.40728	T	0.16	-3.3866	17.6112	0.88054	0.0:0.0:1.0:0.0	.	390;384;384	Q8IWB6;Q8IWB6-3;Q8IWB6-2	TEX14_HUMAN;.;.	V	390;384;384	ENSP00000240361:A390V;ENSP00000374584:A384V;ENSP00000268910:A384V	ENSP00000240361:A390V	A	-	2	0	TEX14	54043554	1.000000	0.71417	0.962000	0.40283	0.965000	0.64279	3.938000	0.56583	2.514000	0.84764	0.462000	0.41574	GCG		0.522	TEX14-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000445446.1			23	116	0	0	0	1	0	23	116					A	56688555	G	A	56688555	3	1	286	1	0	0	0	0	1	0	0	0	15775	1087	38	1	3420	1	TEX14	17	56688555	Missense_Mutation	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	2260375	56688555	24506655	559	13689											
PPM1D	8493	broad.mit.edu	37	chr17	58700883	58700883	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	attttatttcttattacagcGgaatggccaaagactatgac	13	14	7	7	1	1	2	0	1	1	1	1	3	1	3	1	2	2	0	1	2	6	6			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr17:58700883G>A	ENST00000305921.3	+	2	706	c.474G>A	c.(472-474)gcG>gcA	p.A158A		NM_003620.3	NP_003611.1	O15297	PPM1D_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1D	158	PP2C-like.				G2/M transition of mitotic cell cycle (GO:0000086)|negative regulation of cell proliferation (GO:0008285)|peptidyl-threonine dephosphorylation (GO:0035970)|protein dephosphorylation (GO:0006470)|response to bacterium (GO:0009617)|response to radiation (GO:0009314)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	15	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;6.75e-12)|all cancers(12;1.96e-10)			TTATTACAGCGGAATGGCCAA	0.403																																						ENST00000305921.3																			0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	15						c.e2-1		protein phosphatase, Mg2+/Mn2+ dependent, 1D							150	152	151					17																	58700883		2203	4300	6503	SO:0001630	splice_region_variant	8493				negative regulation of cell proliferation|protein dephosphorylation|response to radiation	nucleus|protein serine/threonine phosphatase complex	metal ion binding|protein binding|protein serine/threonine phosphatase activity	g.chr17:58700883G>A	U78305	CCDS11625.1	17q23.3	2014-09-17	2010-03-05		ENSG00000170836	ENSG00000170836		"Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"	9277	protein-coding gene	gene with protein product	"wild-type p53-induced phosphatase 1", "protein phosphatase 2C, delta isoform"	605100	"protein phosphatase 1D magnesium-dependent, delta isoform"			9177166	Standard	NM_003620		Approved	Wip1, PP2C-DELTA	uc002iyt.2	O15297		ENST00000305921.3:c.473-1G>A	17.37:g.58700883G>A							p.A158_splice	NM_003620.3	NP_003611.1	O15297	PPM1D_HUMAN	Epithelial(12;6.75e-12)|all cancers(12;1.96e-10)		2	706	+	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		158			PP2C-like.		Q53XP4|Q6P991|Q8IVR6	Splice_Site	SNP	ENST00000305921.3	37	c.472_splice	CCDS11625.1																																																																																				0.403	PPM1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449474.1	NM_003620	Silent	22	126	0	0	0	1	0	22	126					A	58700883	G	A	58700883	5	1	286	1	0	0	0	0	0	0	1	0	12337	1130	39	2	480	2	PPM1D	17	58700883	Splice_Site	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	2012328	58700883	22494327	560	13690											
TBX4	9496	broad.mit.edu	37	chr17	59560564	59560565	+	Frame_Shift_Ins	INS	-	-	C																															actgtgccgtaccagcccttINSccccacgcacttcaccgcca																										TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr17:59560564_59560565insC	ENST00000240335.1	+	8	1370_1371	c.1325_1326insC	c.(1324-1329)ttccccfs	p.FP442fs	TBX4_ENST00000393853.4_Frame_Shift_Ins_p.FP443fs|TBX4_ENST00000589449.1_3'UTR	NM_018488.2	NP_060958.2	P57082	TBX4_HUMAN	T-box 4	442					angiogenesis (GO:0001525)|embryonic limb morphogenesis (GO:0030326)|limb morphogenesis (GO:0035108)|lung development (GO:0030324)|morphogenesis of an epithelium (GO:0002009)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|skeletal system morphogenesis (GO:0048705)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(15)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						TACCAGCCCTTCCCCACGCACT	0.609																																						ENST00000393853.4																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(15)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						c.(1327-1329)tccfs		T-box 4																																				SO:0001589	frameshift_variant	9496				leg morphogenesis|skeletal system morphogenesis	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr17:59560564_59560565insC	AF188703	CCDS11629.1	17q21-q22	2005-10-11				ENSG00000121075		"T-boxes"	11603	protein-coding gene	gene with protein product		601719				10945475	Standard	NM_018488		Approved		uc002izi.3	P57082		ENST00000240335.1:c.1329dupC	17.37:g.59560568_59560568dupC	ENSP00000240335:p.Phe442fs					TBX4_ENST00000589449.1_3'UTR|TBX4_ENST00000240335.1_Frame_Shift_Ins_p.S442fs	p.S443fs			P57082	TBX4_HUMAN			9	1491_1492	+			442					A5PKU7|B2RMT1|B7ZLV3	Frame_Shift_Ins	INS	ENST00000240335.1	37	c.1328_1329insC	CCDS11629.1																																																																																				0.609	TBX4-002	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000449649.1	NM_018488		13	102						13	102	---	---	---	---	C	59560565	-	C	59560564	7	5	286	1	0	1	1	0	0	0	0	0	15657	1783	62	0	1355	0	TBX4	17	59560564	Frame_Shift_Ins	INS	-	TCGA-J9-A52C-01A-11D-A26M-08	859681	59560564	21634646	561	13691											
RGS9	8787	broad.mit.edu	37	chr17	63206629	63206629	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caccctcccttttatgcggcGtcacctgcgctccagcccaa	6	9	7	19	3	1	0	1	0	0	0	3	0	3	0	5	1	3	1	5	1	2	2			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr17:63206629G>A	ENST00000262406.9	+	17	1380	c.1313G>A	c.(1312-1314)cGt>cAt	p.R438H	RGS9_ENST00000449996.3_Missense_Mutation_p.R435H|RGS9_ENST00000443584.3_Missense_Mutation_p.R435H	NM_003835.3	NP_003826.2	O75916	RGS9_HUMAN	regulator of G-protein signaling 9	438					dopamine receptor signaling pathway (GO:0007212)|intracellular signal transduction (GO:0035556)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|response to estrogen (GO:0043627)|rhodopsin mediated signaling pathway (GO:0016056)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|heterotrimeric G-protein complex (GO:0005834)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|signal transducer activity (GO:0004871)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(8)|liver(2)|lung(12)|ovary(2)|prostate(3)|skin(3)	41						TTTATGCGGCGTCACCTGCGC	0.572																																						ENST00000449996.3																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(8)|liver(2)|lung(12)|ovary(2)|prostate(3)|skin(3)	41						c.(1303-1305)cGt>cAt		regulator of G-protein signaling 9							117	122	120					17																	63206629		2086	4216	6302	SO:0001583	missense	8787				intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway|visual perception	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|signal transducer activity	g.chr17:63206629G>A	AF071476	CCDS42373.1, CCDS45764.1	17q24	2008-07-18	2007-08-14			ENSG00000108370		"Regulators of G-protein signaling"	10004	protein-coding gene	gene with protein product	"regulator of G protein signalling 9", "regulator of G protein signalling 9L", "regulator of G-protein signaling 9L"	604067	"regulator of G-protein signalling 9"			9765512	Standard	NM_003835		Approved	PERRS, RGS9L, MGC26458, MGC111763	uc002jfe.3	O75916		ENST00000262406.9:c.1313G>A	17.37:g.63206629G>A	ENSP00000262406:p.Arg438His					RGS9_ENST00000262406.9_Missense_Mutation_p.R438H|RGS9_ENST00000443584.3_Missense_Mutation_p.R435H	p.R435H	NM_001081955.2	NP_001075424.1	O75916	RGS9_HUMAN			17	1376	+			438					A8K3C0|O75573|Q696R2|Q8TD64|Q8TD65|Q9HC32|Q9HC33	Missense_Mutation	SNP	ENST00000262406.9	37	c.1304G>A	CCDS42373.1	.	.	.	.	.	.	.	.	.	.	G	26.4	4.732146	0.89390	.	.	ENSG00000108370	ENST00000262406;ENST00000449996	T;T	0.35421	1.35;1.31	5.31	5.31	0.75309	.	0.125984	0.53938	D	0.000051	T	0.55784	0.1942	M	0.64404	1.975	0.41596	D	0.988828	D;D;D	0.89917	0.999;0.999;1.0	P;D;D	0.69824	0.899;0.926;0.966	T	0.57923	-0.7727	10	0.72032	D	0.01	.	13.6252	0.62159	0.0744:0.0:0.9256:0.0	.	438;438;435	A8K1G1;O75916;O75916-5	.;RGS9_HUMAN;.	H	438;435	ENSP00000262406:R438H;ENSP00000396329:R435H	ENSP00000262406:R438H	R	+	2	0	RGS9	60637091	1.000000	0.71417	0.847000	0.33407	0.988000	0.76386	5.266000	0.65525	2.652000	0.90054	0.655000	0.94253	CGT		0.572	RGS9-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000445885.1	NM_003835		14	103	0	0	0	1	0	14	103					A	63206629	G	A	63206629	3	1	286	1	0	0	0	0	1	0	0	0	13313	1145	40	1	1379	1	RGS9	17	63206629	Missense_Mutation	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	3646065	63206629	17988581	562	13692											
PRKCA	5578	broad.mit.edu	37	chr17	64637512	64637512	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agttcaaaatccacacttacGgaagccccaccttctgcgat	12	9	6	14	2	2	0	1	0	1	0	3	2	3	1	4	1	3	1	4	1	4	3			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr17:64637512G>A	ENST00000413366.3	+	4	354	c.328G>A	c.(328-330)Gga>Aga	p.G110R	RNA5SP445_ENST00000515889.1_RNA	NM_002737.2	NP_002728	P17252	KPCA_HUMAN	protein kinase C, alpha	110					activation of adenylate cyclase activity (GO:0007190)|activation of phospholipase C activity (GO:0007202)|angiogenesis (GO:0001525)|apoptotic signaling pathway (GO:0097190)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cellular calcium ion homeostasis (GO:0006874)|cellular response to carbohydrate stimulus (GO:0071322)|chondrocyte differentiation (GO:0002062)|desmosome assembly (GO:0002159)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|extracellular matrix organization (GO:0030198)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|histone H3-T6 phosphorylation (GO:0035408)|inactivation of MAPK activity (GO:0000188)|induction of positive chemotaxis (GO:0050930)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway (GO:0097193)|mRNA metabolic process (GO:0016071)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of cell proliferation (GO:0008285)|negative regulation of glial cell apoptotic process (GO:0034351)|negative regulation of glucose import (GO:0046325)|negative regulation of insulin receptor signaling pathway (GO:0046627)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil chemotaxis (GO:0030593)|peptidyl-serine autophosphorylation (GO:0036289)|phototransduction, visible light (GO:0007603)|platelet activation (GO:0030168)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell migration (GO:0030335)|positive regulation of dense core granule biogenesis (GO:2000707)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of inflammatory response (GO:0050729)|positive regulation of lipopolysaccharide-mediated signaling pathway (GO:0031666)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of protein phosphorylation (GO:0001934)|protein phosphorylation (GO:0006468)|regulation of insulin secretion (GO:0050796)|regulation of muscle contraction (GO:0006937)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|regulation of platelet aggregation (GO:0090330)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|regulation of the force of heart contraction (GO:0002026)|response to interleukin-1 (GO:0070555)|rhodopsin mediated signaling pathway (GO:0016056)|RNA metabolic process (GO:0016070)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)|nucleoplasm (GO:0005654)|perinuclear region of cytoplasm (GO:0048471)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium-dependent protein kinase C activity (GO:0004698)|enzyme binding (GO:0019899)|histone kinase activity (H3-T6 specific) (GO:0035403)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	38			BRCA - Breast invasive adenocarcinoma(6;4.68e-09)		Ingenol Mebutate(DB05013)|Phosphatidylserine(DB00144)|Tamoxifen(DB00675)|Vitamin E(DB00163)	CCACACTTACGGAAGCCCCAC	0.438																																						ENST00000413366.3																			0				breast(3)|central_nervous_system(4)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	38						c.(328-330)Gga>Aga		protein kinase C, alpha	Phosphatidylserine(DB00144)|Vitamin E(DB00163)						223	184	197					17																	64637512		2203	4300	6503	SO:0001583	missense	5578				activation of phospholipase C activity|energy reserve metabolic process|induction of apoptosis by extracellular signals|intracellular signal transduction|mRNA metabolic process|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of blood vessel endothelial cell migration|regulation of insulin secretion|response to interleukin-1|synaptic transmission	cytosol|endoplasmic reticulum|membrane fraction|nucleoplasm|plasma membrane	ATP binding|enzyme binding|histone kinase activity (H3-T6 specific)|protein kinase C activity|zinc ion binding	g.chr17:64637512G>A		CCDS11664.1	17q22-q24	2009-07-10				ENSG00000154229	2.7.11.1		9393	protein-coding gene	gene with protein product		176960		PKCA			Standard	NM_002737		Approved		uc002jfp.1	P17252		ENST00000413366.3:c.328G>A	17.37:g.64637512G>A	ENSP00000408695:p.Gly110Arg						p.G110R	NM_002737.2	NP_002728.1	P17252	KPCA_HUMAN	BRCA - Breast invasive adenocarcinoma(6;4.68e-09)		4	354	+			110					B5BU22|Q15137|Q32M72|Q96RE4	Missense_Mutation	SNP	ENST00000413366.3	37	c.328G>A	CCDS11664.1	.	.	.	.	.	.	.	.	.	.	G	16.00	2.999364	0.54147	.	.	ENSG00000154229	ENST00000413366;ENST00000284384	D	0.92249	-3.0	6.04	6.04	0.98038	Protein kinase C-like, phorbol ester/diacylglycerol binding (4);	0.000000	0.85682	D	0.000000	T	0.81730	0.4884	N	0.12831	0.26	0.51767	D	0.99993	B	0.32604	0.377	B	0.25405	0.06	T	0.80200	-0.1481	10	0.08179	T	0.78	.	14.9703	0.71229	0.0:0.0:0.8572:0.1428	.	110	P17252	KPCA_HUMAN	R	110;17	ENSP00000408695:G110R	ENSP00000284384:G17R	G	+	1	0	PRKCA	62067974	1.000000	0.71417	0.758000	0.31321	0.938000	0.57974	5.368000	0.66133	2.873000	0.98535	0.561000	0.74099	GGA		0.438	PRKCA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446976.1			18	105	0	0	0	1	0	18	105					A	64637512	G	A	64637512	3	1	286	1	0	0	0	0	1	0	0	0	12507	1117	39	2	342	2	PRKCA	17	64637512	Missense_Mutation	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	1430883	64637512	16557698	563	13693											
PRKAR1A	5573	broad.mit.edu	37	chr17	66526538	66526538	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttggcccatgctcagacaTcctcaaacgaaacatccagc	12	8	6	15	1	3	1	2	0	1	1	5	2	5	1	3	1	4	1	3	1	2	1			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr17:66526538T>G	ENST00000589228.1	+	11	1222	c.1094T>G	c.(1093-1095)aTc>aGc	p.I365S	PRKAR1A_ENST00000536854.2_Missense_Mutation_p.I365S|PRKAR1A_ENST00000392711.1_Missense_Mutation_p.I365S|PRKAR1A_ENST00000358598.2_Missense_Mutation_p.I365S|PRKAR1A_ENST00000586397.1_Missense_Mutation_p.I365S|PRKAR1A_ENST00000588188.2_Intron	NM_001276289.1|NM_001278433.1	NP_001263218.1|NP_001265362.1	P10644	KAP0_HUMAN	protein kinase, cAMP-dependent, regulatory, type I, alpha	365					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|blood coagulation (GO:0007596)|cardiac muscle cell proliferation (GO:0060038)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|female meiotic division (GO:0007143)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|mesoderm formation (GO:0001707)|negative regulation of cAMP-dependent protein kinase activity (GO:2000480)|negative regulation of meiosis (GO:0045835)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of insulin secretion (GO:0050796)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|sarcomere organization (GO:0045214)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	AMP-activated protein kinase complex (GO:0031588)|cAMP-dependent protein kinase complex (GO:0005952)|cytosol (GO:0005829)|membrane (GO:0016020)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	cAMP binding (GO:0030552)|cAMP-dependent protein kinase inhibitor activity (GO:0004862)|cAMP-dependent protein kinase regulator activity (GO:0008603)|protein kinase A catalytic subunit binding (GO:0034236)|ubiquitin protein ligase binding (GO:0031625)			adrenal_gland(4)|breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(8)|soft_tissue(2)|stomach(2)|testis(1)|thyroid(2)|upper_aerodigestive_tract(1)	31	Breast(10;1.64e-13)					TGCTCAGACATCCTCAAACGA	0.512			"T, Mis, N, F, S"	RET	papillary thyroid	"myxoma, endocrine, papillary thyroid"			Primary Pigmented Nodular Adrenocortical Disease, Familial;Carney Complex;Cardiac Myxomas, Familial Clustering of																												Ovarian(167;637 1670 33025 39608 46699 51856)	ENST00000589228.1			yes	"Dom, Rec"	yes	Carney complex	17	17q23-q24	5573	"T, Mis, N, F, S"	"protein kinase, cAMP-dependent, regulatory, type I, alpha (tissue specific extinguisher 1)"			"E, M"	RET	"myxoma, endocrine, papillary thyroid"	papillary thyroid		0				adrenal_gland(4)|breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(8)|soft_tissue(2)|stomach(2)|testis(1)|thyroid(2)|upper_aerodigestive_tract(1)	31						c.(1093-1095)aTc>aGc		protein kinase, cAMP-dependent, regulatory, type I, alpha							233	183	200					17																	66526538		2203	4300	6503	SO:0001583	missense	5573	Primary Pigmented Nodular Adrenocortical Disease, Familial;Carney Complex;Cardiac Myxomas, Familial Clustering of	Familial Cancer Database	iPPNAD, PPNAD1, incl. familial micronodular adrenocortical hyperplasia, PPNAD2;Carney syndrome, NAME syndrome, LAMB syndrome, Familial Myxoma syndrome;	activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|intracellular signal transduction|nerve growth factor receptor signaling pathway|regulation of insulin secretion|regulation of transcription from RNA polymerase II promoter|transmembrane transport|water transport	cAMP-dependent protein kinase complex|cytosol	cAMP binding|cAMP-dependent protein kinase regulator activity|protein binding	g.chr17:66526538T>G		CCDS11678.1, CCDS62307.1	17q24.2	2014-09-17	2012-07-31		ENSG00000108946	ENSG00000108946	2.7.11.1		9388	protein-coding gene	gene with protein product	"Carney complex type 1"	188830	"tissue specific extinguisher 1"	PRKAR1, TSE1		3479018, 10973256	Standard	NM_212471		Approved	CNC1	uc002jhg.4	P10644	OTTHUMG00000180128	ENST00000589228.1:c.1094T>G	17.37:g.66526538T>G	ENSP00000464977:p.Ile365Ser					PRKAR1A_ENST00000358598.2_Missense_Mutation_p.I365S|PRKAR1A_ENST00000392711.1_Missense_Mutation_p.I365S|PRKAR1A_ENST00000536854.2_Missense_Mutation_p.I365S|PRKAR1A_ENST00000586397.1_Missense_Mutation_p.I365S|PRKAR1A_ENST00000588188.2_Intron	p.I365S	NM_001276289.1|NM_001278433.1	NP_001263218.1|NP_001265362.1	P10644	KAP0_HUMAN			11	1222	+	Breast(10;1.64e-13)		365					K7ER48|Q567S7	Missense_Mutation	SNP	ENST00000589228.1	37	c.1094T>G	CCDS11678.1	.	.	.	.	.	.	.	.	.	.	T	26.1	4.707105	0.89018	.	.	ENSG00000108946	ENST00000358598;ENST00000392711;ENST00000392710;ENST00000536854	D;D;D	0.89050	-2.46;-2.46;-2.46	5.9	5.9	0.94986	Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);Cyclic nucleotide-binding domain (2);	0.343855	0.33161	N	0.005213	D	0.96144	0.8743	H	0.95004	3.61	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.97201	0.9864	10	0.87932	D	0	-29.6188	16.3232	0.82961	0.0:0.0:0.0:1.0	.	365	P10644	KAP0_HUMAN	S	365	ENSP00000351410:I365S;ENSP00000376475:I365S;ENSP00000445625:I365S	ENSP00000351410:I365S	I	+	2	0	PRKAR1A	64038133	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.006000	0.88564	2.254000	0.74563	0.482000	0.46254	ATC		0.512	PRKAR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449884.1			15	63	0	0	0	1	0	15	63					G	66526538	T	G	66526538	3	3	286	1	0	0	0	0	1	0	0	0	12503	1435	50	5	1132	5	PRKAR1A	17	66526538	Missense_Mutation	SNP	T	TCGA-J9-A52C-01A-11D-A26M-08	1889026	66526538	14668672	564	13694											
CASKIN2	57513	broad.mit.edu	37	chr17	73497583	73497583	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggtgccaatgctcttctctgCggctctcagtgcagctgcca	5	11	11	14	1	3	0	1	0	3	0	5	0	3	0	2	2	6	4	2	2	1	1	rs140270094	byFrequency	TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr17:73497583C>T	ENST00000321617.3	-	19	4070	c.3484G>A	c.(3484-3486)Gca>Aca	p.A1162T	CASKIN2_ENST00000433559.2_Missense_Mutation_p.A1080T	NM_020753.3	NP_065804.2	Q8WXE0	CSKI2_HUMAN	CASK interacting protein 2	1162						cytoplasm (GO:0005737)		p.L1159_A1162del(1)		endometrium(1)|kidney(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	18	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;4.57e-07)|Epithelial(20;2.92e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			CTCTTCTCTGCGGCTCTCAGT	0.657																																						ENST00000321617.3																			1	Deletion - In frame(1)	p.L1159_A1162del(1)	pancreas(1)	endometrium(1)|kidney(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	18						c.(3484-3486)Gca>Aca		CASK interacting protein 2							68	78	75					17																	73497583		2194	4266	6460	SO:0001583	missense	57513					cytoplasm		g.chr17:73497583C>T	AB032965	CCDS11723.1, CCDS45775.1	17q25.1	2014-09-04			ENSG00000177303	ENSG00000177303		"Sterile alpha motif (SAM) domain containing", "Ankyrin repeat domain containing"	18200	protein-coding gene	gene with protein product		612185				12040031	Standard	NM_020753		Approved	KIAA1139, FLJ21609, ANKS5B	uc002joc.4	Q8WXE0	OTTHUMG00000179683	ENST00000321617.3:c.3484G>A	17.37:g.73497583C>T	ENSP00000325355:p.Ala1162Thr					CASKIN2_ENST00000433559.2_Missense_Mutation_p.A1080T	p.A1162T	NM_020753.3	NP_065804.2	Q8WXE0	CSKI2_HUMAN	all cancers(21;4.57e-07)|Epithelial(20;2.92e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)		19	4070	-	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		1162					B4DTT3|B7Z9H1|Q7LG69|Q9ULT1	Missense_Mutation	SNP	ENST00000321617.3	37	c.3484G>A	CCDS11723.1	.	.	.	.	.	.	.	.	.	.	C	32	5.186390	0.94885	.	.	ENSG00000177303	ENST00000321617;ENST00000433559	T;T	0.70282	-0.47;-0.29	5.61	5.61	0.85477	.	0.000000	0.46442	D	0.000293	T	0.72969	0.3527	L	0.35414	1.06	0.80722	D	1	D	0.71674	0.998	P	0.55303	0.773	T	0.69135	-0.5225	10	0.27785	T	0.31	.	19.6398	0.95753	0.0:1.0:0.0:0.0	.	1162	Q8WXE0	CSKI2_HUMAN	T	1162;1080	ENSP00000325355:A1162T;ENSP00000406963:A1080T	ENSP00000325355:A1162T	A	-	1	0	CASKIN2	71009178	1.000000	0.71417	0.794000	0.32065	0.908000	0.53690	7.736000	0.84948	2.641000	0.89580	0.591000	0.81541	GCA		0.657	CASKIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447609.1	NM_020753		32	145	0	0	0	1	0	32	145					T	73497583	C	T	73497583	3	4	286	1	0	0	0	0	1	0	0	0	2667	768	27	1	132	1	CASKIN2	17	73497583	Missense_Mutation	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	6971045	73497583	7697627	565	13695											
LLGL2	3993	broad.mit.edu	37	chr17	73559543	73559543	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctccgcagcctcgtgccttaCggtcagtgtttcacccgccg	4	10	10	17	5	2	0	2	0	0	0	4	0	3	0	5	1	3	2	5	1	1	2	rs141041567	byFrequency	TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr17:73559543C>T	ENST00000392550.3	+	8	942	c.825C>T	c.(823-825)taC>taT	p.Y275Y	LLGL2_ENST00000167462.5_Splice_Site_p.Y275Y|LLGL2_ENST00000578363.1_Splice_Site_p.Y275Y|LLGL2_ENST00000577200.1_Splice_Site_p.Y275Y|LLGL2_ENST00000375227.4_Splice_Site_p.Y275Y	NM_001031803.1	NP_001026973.1	Q6P1M3	L2GL2_HUMAN	lethal giant larvae homolog 2 (Drosophila)	275					cell cycle (GO:0007049)|cell division (GO:0051301)|exocytosis (GO:0006887)|regulation of establishment or maintenance of cell polarity (GO:0032878)	cytoplasm (GO:0005737)	PDZ domain binding (GO:0030165)			NS(1)|breast(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;1.8e-07)|Epithelial(20;1.38e-06)|Lung(188;0.0696)|LUSC - Lung squamous cell carcinoma(166;0.112)			TCGTGCCTTACGGTCAGTGTT	0.647																																						ENST00000392550.3																			0				NS(1)|breast(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						c.e8+1		lethal giant larvae homolog 2 (Drosophila)		C	,,	0,4404		0,0,2202	36	36	36		825,825,825	-2.5	1	17	dbSNP_134	36	4,8592	3.7+/-12.6	0,4,4294	yes	coding-synonymous-near-splice,coding-synonymous-near-splice,coding-synonymous-near-splice	LLGL2	NM_001015002.1,NM_001031803.1,NM_004524.2	,,	0,4,6496	TT,TC,CC		0.0465,0.0,0.0308	,,	275/357,275/1021,275/1016	73559543	4,12996	2202	4298	6500	SO:0001630	splice_region_variant	3993				cell cycle|cell division|exocytosis|regulation of establishment or maintenance of cell polarity	cytoplasm|intracellular membrane-bounded organelle	PDZ domain binding	g.chr17:73559543C>T	X87342	CCDS11725.1, CCDS32733.1, CCDS45776.1	17q25.1	2013-01-10	2001-11-28			ENSG00000073350		"WD repeat domain containing"	6629	protein-coding gene	gene with protein product			"lethal giant larvae (Drosophila) homolog 2"				Standard	XR_243659		Approved	HGL	uc002joh.3	Q6P1M3		ENST00000392550.3:c.826+1C>T	17.37:g.73559543C>T						LLGL2_ENST00000375227.4_Splice_Site_p.Y275_splice|LLGL2_ENST00000578363.1_Splice_Site_p.Y275_splice|LLGL2_ENST00000577200.1_Splice_Site_p.Y275_splice|LLGL2_ENST00000167462.5_Splice_Site_p.Y275_splice	p.Y275_splice	NM_001031803.1	NP_001026973.1	Q6P1M3	L2GL2_HUMAN	all cancers(21;1.8e-07)|Epithelial(20;1.38e-06)|Lung(188;0.0696)|LUSC - Lung squamous cell carcinoma(166;0.112)		8	942	+	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		275					Q14521|Q9BR62	Splice_Site	SNP	ENST00000392550.3	37	c.826_splice	CCDS32733.1																																																																																				0.647	LLGL2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000447633.1	NM_004524	Silent	10	44	0	0	0	1	0	10	44					T	73559543	C	T	73559543	5	4	286	1	0	0	0	0	0	0	1	0	8834	550	19	1	851	1	LLGL2	17	73559543	Splice_Site	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	61960	73559543	7635667	566	13696											
UBE2O	63893	broad.mit.edu	37	chr17	74392306	74392306	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tggcacagcaccggggtttcGctgggccactcagccttcac	6	8	12	15	2	2	0	2	0	0	0	3	0	2	0	3	4	2	4	3	4	0	2	rs139988070	byFrequency	TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr17:74392306G>A	ENST00000319380.7	-	14	2776	c.2712C>T	c.(2710-2712)agC>agT	p.S904S	UBE2O_ENST00000587581.1_5'Flank	NM_022066.3	NP_071349.3	Q9C0C9	UBE2O_HUMAN	ubiquitin-conjugating enzyme E2O	904					positive regulation of BMP signaling pathway (GO:0030513)|protein K63-linked ubiquitination (GO:0070534)|protein monoubiquitination (GO:0006513)|retrograde transport, endosome to Golgi (GO:0042147)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36						CCGGGGTTTCGCTGGGCCACT	0.627																																						ENST00000319380.7																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36						c.(2710-2712)agC>agT		ubiquitin-conjugating enzyme E2O		G		3,4403	6.2+/-15.9	0,3,2200	77	82	81		2712	-2.6	0.9	17	dbSNP_134	81	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	UBE2O	NM_022066.3		0,4,6499	AA,AG,GG		0.0116,0.0681,0.0308		904/1293	74392306	4,13002	2203	4300	6503	SO:0001819	synonymous_variant	63893						ATP binding|ubiquitin-protein ligase activity	g.chr17:74392306G>A	AB051521	CCDS32742.1	17q25.1	2013-10-09			ENSG00000175931	ENSG00000175931			29554	protein-coding gene	gene with protein product						11311559, 11214970	Standard	NM_022066		Approved	E2-230K	uc002jrm.4	Q9C0C9	OTTHUMG00000180178	ENST00000319380.7:c.2712C>T	17.37:g.74392306G>A							p.S904S	NM_022066.3	NP_071349.3	Q9C0C9	UBE2O_HUMAN			14	2776	-			904					A6NDU5|Q69YP4|Q6PIZ2|Q86UA4|Q8N425|Q8TBN1|Q9BSW1|Q9H6E6|Q9H7E4|Q9H9B2	Silent	SNP	ENST00000319380.7	37	c.2712C>T	CCDS32742.1																																																																																				0.627	UBE2O-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450123.1	NM_022066		15	80	0	0	0	1	0	15	80					A	74392306	G	A	74392306	2	1	286	1	0	0	0	0	0	0	0	1	16865	1078	38	1		1	UBE2O	17	74392306	Silent	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	832763	74392306	6802904	567	13697											
SEC14L1	6397	broad.mit.edu	37	chr17	75199713	75199713	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	accaaaggcttggtgagagcGctcggggaggaagccctgct	9	6	16	10	2	0	1	0	1	0	1	1	4	0	3	2	5	3	3	2	5	2	1	rs370893885		TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr17:75199713G>A	ENST00000413679.2	+	10	1374	c.1071G>A	c.(1069-1071)gcG>gcA	p.A357A	SEC14L1_ENST00000431431.2_Silent_p.A323A|SEC14L1_ENST00000443798.4_Silent_p.A357A|SEC14L1_ENST00000392476.2_Silent_p.A357A|SEC14L1_ENST00000436233.4_Silent_p.A357A|SEC14L1_ENST00000591437.1_Silent_p.A323A|SEC14L1_ENST00000430767.4_Silent_p.A357A|SEC14L1_ENST00000585618.1_Silent_p.A357A	NM_001143998.1|NM_001143999.1|NM_003003.3	NP_001137470|NP_001137471|NP_002994	Q92503	S14L1_HUMAN	SEC14-like 1 (S. cerevisiae)	357	CRAL-TRIO. {ECO:0000255|PROSITE- ProRule:PRU00056}.				transport (GO:0006810)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				NS(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(2)	31						TGGTGAGAGCGCTCGGGGAGG	0.602																																						ENST00000413679.2																			0				NS(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(2)	31						c.(1069-1071)gcG>gcA		SEC14-like 1 (S. cerevisiae)		G	,,,,,,	0,4406		0,0,2203	47	41	43		1071,1071,1071,969,1071,1071,1071	-4.7	0.9	17		43	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	SEC14L1	NM_001039573.2,NM_001143998.1,NM_001143999.1,NM_001144001.1,NM_001204408.1,NM_001204410.1,NM_003003.3	,,,,,,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,,,,,,	357/720,357/716,357/716,323/682,357/720,357/716,357/716	75199713	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	6397				transport	Golgi apparatus|integral to membrane	binding	g.chr17:75199713G>A	D67029	CCDS11752.1, CCDS42385.1, CCDS45789.1	17q25.2	2008-02-01	2001-11-28			ENSG00000129657			10698	protein-coding gene	gene with protein product		601504	"SEC14 (S. cerevisiae)-like 1"	SEC14L		8697811	Standard	NM_001143998		Approved	PRELID4A	uc002jto.3	Q92503		ENST00000413679.2:c.1071G>A	17.37:g.75199713G>A						SEC14L1_ENST00000392476.2_Silent_p.A357A|SEC14L1_ENST00000443798.4_Silent_p.A357A|SEC14L1_ENST00000430767.4_Silent_p.A357A|SEC14L1_ENST00000431431.2_Silent_p.A323A|SEC14L1_ENST00000591437.1_Silent_p.A323A|SEC14L1_ENST00000436233.4_Silent_p.A357A|SEC14L1_ENST00000585618.1_Silent_p.A357A	p.A357A	NM_001143998.1|NM_001143999.1|NM_003003.3	NP_001137470.1|NP_001137471.1|NP_002994.3	Q92503	S14L1_HUMAN			10	1374	+			357			CRAL-TRIO.		A8K4E8|B4DDI5|D5G3K1|Q99780	Silent	SNP	ENST00000413679.2	37	c.1071G>A	CCDS11752.1																																																																																				0.602	SEC14L1-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000436240.1	NM_003003		4	21	0	0	0	1	0	4	21					A	75199713	G	A	75199713	2	1	286	1	0	0	0	0	0	0	0	1	13981	1074	38	1		1	SEC14L1	17	75199713	Silent	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	807407	75199713	5995497	568	13698											
TNRC6C	57690	broad.mit.edu	37	chr17	76045218	76045218	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcaataatggcaccaatggCgcactcgtccaaagcccttc	11	7	9	14	2	0	0	0	0	0	0	3	0	1	0	3	3	1	3	3	3	4	2	rs138478334		TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr17:76045218C>T	ENST00000588061.1	+	5	802	c.75C>T	c.(73-75)ggC>ggT	p.G25G	TNRC6C_ENST00000335749.4_Silent_p.G25G|TNRC6C_ENST00000544502.1_Silent_p.G25G|TNRC6C_ENST00000588847.1_Silent_p.G25G|TNRC6C_ENST00000301624.4_Silent_p.G25G|TNRC6C_ENST00000541771.1_Silent_p.G25G			Q9HCJ0	TNR6C_HUMAN	trinucleotide repeat containing 6C	25	Sufficient for interaction with argonaute family proteins.				embryonic hemopoiesis (GO:0035162)|endoderm formation (GO:0001706)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|regulation of gene silencing by miRNA (GO:0060964)	cytosol (GO:0005829)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)			GCACCAATGGCGCACTCGTCC	0.552													C|||	1	0.000199681	8e-04	0	5008	,	,		21839	0		0	False		,,,				2504	0					ENST00000335749.4																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	40						c.(73-75)ggC>ggT		trinucleotide repeat containing 6C		C	,	1,4127		0,1,2063	50	51	50		75,75	0.8	0.4	17	dbSNP_134	50	1,8409		0,1,4204	no	coding-synonymous,coding-synonymous	TNRC6C	NM_001142640.1,NM_018996.3	,	0,2,6267	TT,TC,CC		0.0119,0.0242,0.016	,	25/1727,25/1691	76045218	2,12536	2064	4205	6269	SO:0001819	synonymous_variant	57690				gene silencing by RNA|regulation of translation		nucleotide binding|RNA binding	g.chr17:76045218C>T	AL834429	CCDS45798.1, CCDS45799.1	17q25.3	2012-10-04			ENSG00000078687	ENSG00000078687		"Trinucleotide (CAG) repeat containing"	29318	protein-coding gene	gene with protein product		610741					Standard	NM_018996		Approved	KIAA1582, FLJ20015	uc002juf.2	Q9HCJ0	OTTHUMG00000132642	ENST00000588061.1:c.75C>T	17.37:g.76045218C>T						TNRC6C_ENST00000588847.1_Silent_p.G25G|TNRC6C_ENST00000301624.4_Silent_p.G25G|TNRC6C_ENST00000588061.1_Silent_p.G25G|TNRC6C_ENST00000544502.1_Silent_p.G25G|TNRC6C_ENST00000541771.1_Silent_p.G25G	p.G25G	NM_001142640.1	NP_001136112.1	Q9HCJ0	TNR6C_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)		3	644	+			25			Sufficient for interaction with argonaute family proteins.		G3XAB8|Q86UE5|Q8N3D8|Q96MU9	Silent	SNP	ENST00000588061.1	37	c.75C>T	CCDS45798.1																																																																																				0.552	TNRC6C-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000395947.1	NM_018996		7	26	0	0	0	1	0	7	26					T	76045218	C	T	76045218	2	4	286	1	0	0	0	0	0	0	0	1	16339	755	27	1		1	TNRC6C	17	76045218	Silent	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	845505	76045218	5149992	569	13699											
DNAH17	8632	broad.mit.edu	37	chr17	76510888	76510888	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	catgagctgctgccagtggcGttcccgaatggcagggttct	6	10	14	11	2	1	1	0	1	1	0	2	2	2	1	2	3	3	5	2	3	1	2	rs200427893		TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr17:76510888G>A	ENST00000585328.1	-	26	4196	c.4072C>T	c.(4072-4074)Cgc>Tgc	p.R1358C	DNAH17_ENST00000389840.5_Missense_Mutation_p.R1357C	NM_173628.3	NP_775899.3	Q9UFH2	DYH17_HUMAN	dynein, axonemal, heavy chain 17	1357	Stem. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			TGCCAGTGGCGTTCCCGAATG	0.652																																						ENST00000389840.5																			0				NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116						c.(4069-4071)Cgc>Tgc		dynein, axonemal, heavy chain 17		G	CYS/ARG	0,4208		0,0,2104	65	69	67		4081	5.3	1	17		67	2,8454		0,2,4226	no	missense	DNAH17	NM_173628.3	180	0,2,6330	AA,AG,GG		0.0237,0.0,0.0158		1361/4463	76510888	2,12662	2104	4228	6332	SO:0001583	missense	8632							g.chr17:76510888G>A	AJ000522		17q25.3	2012-04-19	2006-09-04		ENSG00000187775	ENSG00000187775		"Axonemal dyneins"	2946	protein-coding gene	gene with protein product		610063	"dynein, axonemal, heavy polypeptide 17", "dynein, axonemal, heavy chain like 1", "dynein, axonemal, heavy like 1"	DNAHL1		9545504	Standard	NM_173628		Approved	DNEL2, FLJ40457	uc010dhp.2	Q9UFH2		ENST00000585328.1:c.4072C>T	17.37:g.76510888G>A	ENSP00000465516:p.Arg1358Cys					DNAH17_ENST00000585328.1_Missense_Mutation_p.R1358C	p.R1357C					BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)		26	4193	-								O00431|O15206|Q2M2Y1|Q6ZRQ2|Q8N7Q7	Missense_Mutation	SNP	ENST00000585328.1	37	c.4069C>T		.	.	.	.	.	.	.	.	.	.	G	18.93	3.728084	0.69074	0.0	2.37E-4	ENSG00000187775	ENST00000300671;ENST00000389840	T	0.67523	-0.27	5.31	5.31	0.75309	.	.	.	.	.	D	0.88596	0.6479	H	0.98936	4.375	0.49582	D	0.999809	.	.	.	.	.	.	D	0.92183	0.5753	7	0.87932	D	0	.	12.6672	0.56848	0.0:0.0:0.7111:0.2889	.	.	.	.	C	1358;1357	ENSP00000374490:R1357C	ENSP00000300671:R1358C	R	-	1	0	DNAH17	74022483	1.000000	0.71417	0.993000	0.49108	0.974000	0.67602	2.596000	0.46205	2.476000	0.83614	0.563000	0.77884	CGC		0.652	DNAH17-001	PUTATIVE	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000318962.2	NM_173628		11	37	0	0	0	1	0	11	37					A	76510888	G	A	76510888	3	1	286	1	0	0	0	0	1	0	0	0	4601	1145	40	1	9531	1	DNAH17	17	76510888	Missense_Mutation	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	465670	76510888	4684322	570	13700											
RNF213	57674	broad.mit.edu	37	chr17	78320969	78320969	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctacgaaacggtgtgtaagcGccaggacaaggaattcttcg	12	8	12	9	4	1	0	0	0	1	0	2	3	1	2	1	3	3	1	1	3	5	4	rs76918558		TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr17:78320969G>A	ENST00000582970.1	+	29	8977	c.8834G>A	c.(8833-8835)cGc>cAc	p.R2945H	RNF213_ENST00000508628.2_Missense_Mutation_p.R2994H|RNF213_ENST00000336301.6_Missense_Mutation_p.R1018H	NM_001256071.1	NP_001243000.1	Q63HN8	RN213_HUMAN	ring finger protein 213	2945					ATP catabolic process (GO:0006200)|protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATPase activity (GO:0016887)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			GTGTGTAAGCGCCAGGACAAG	0.532													G|||	1	0.000199681	0	0	5008	,	,		20774	0.001		0	False		,,,				2504	0					ENST00000582970.1																			0				NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130						c.(8833-8835)cGc>cAc		ring finger protein 213							48	38	42					17																	78320969		2203	4300	6503	SO:0001583	missense	57674							g.chr17:78320969G>A	AK074030	CCDS58606.1	17q25.3	2013-01-09	2007-02-08	2007-02-08		ENSG00000173821		"RING-type (C3HC4) zinc fingers"	14539	protein-coding gene	gene with protein product		613768	"chromosome 17 open reading frame 27", "KIAA1618", "moyamoya disease 2", "Moyamoya disease 2"	C17orf27, KIAA1618, MYMY2		10997877, 21048783, 21799892	Standard	NM_020954		Approved	KIAA1554, NET57	uc021uen.2	Q63HN8		ENST00000582970.1:c.8834G>A	17.37:g.78320969G>A	ENSP00000464087:p.Arg2945His					RNF213_ENST00000336301.6_Missense_Mutation_p.R1018H|RNF213_ENST00000508628.2_Missense_Mutation_p.R2994H	p.R2945H	NM_001256071.1	NP_001243000.1	Q9HCF4	ALO17_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)		29	8977	+	all_neural(118;0.0538)		0					C9JCP4|D6RI12|F8WKS1|Q658P6|Q69YK7|Q6MZR1|Q8IWF4|Q8IZX1|Q8IZX2|Q8N406|Q8TEU0|Q9H6C9|Q9H6H9|Q9H6P3|Q9H8A9|Q9HCF4|Q9HCL8	Missense_Mutation	SNP	ENST00000582970.1	37	c.8834G>A	CCDS58606.1	.	.	.	.	.	.	.	.	.	.	G	4.920	0.171040	0.09391	.	.	ENSG00000173821	ENST00000508628;ENST00000411702;ENST00000336301	T;T	0.59083	0.29;1.91	5.82	-11.6	0.00059	.	2.299150	0.01130	N	0.005963	T	0.24812	0.0602	N	0.08118	0	0.09310	N	1	B	0.27882	0.192	B	0.11329	0.006	T	0.19257	-1.0311	10	0.40728	T	0.16	.	0.8571	0.01185	0.3302:0.2684:0.2067:0.1948	.	1018	Q63HN8	RN213_HUMAN	H	2945;2994;1018	ENSP00000425956:R2945H;ENSP00000338218:R1018H	ENSP00000338218:R1018H	R	+	2	0	RNF213	75935564	0.000000	0.05858	0.000000	0.03702	0.037000	0.13140	-1.973000	0.01500	-2.041000	0.00915	-1.119000	0.02030	CGC		0.532	RNF213-020	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000443298.1	NM_020914		4	18	0	0	0	1	0	4	18					A	78320969	G	A	78320969	3	1	286	1	0	0	0	0	1	0	0	0	13477	1087	38	1	9263	1	RNF213	17	78320969	Missense_Mutation	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	1810081	78320969	2874241	571	13701											
RNF213	57674	broad.mit.edu	37	chr17	78357529	78357529	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tctcatcagccaagataagcGtatcagctctaaccctgtgg	11	10	8	12	1	4	1	3	0	2	1	5	1	4	1	2	1	4	2	2	1	4	3			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr17:78357529G>A	ENST00000582970.1	+	59	14266	c.14123G>A	c.(14122-14124)cGt>cAt	p.R4708H	RNF213_ENST00000427003.3_3'UTR|RNF213_ENST00000508628.2_Missense_Mutation_p.R4757H|CTD-2047H16.4_ENST00000572151.1_RNA|CTD-2047H16.4_ENST00000575034.1_RNA|CTD-2047H16.4_ENST00000573394.1_RNA|RNF213_ENST00000336301.6_Missense_Mutation_p.R2781H	NM_001256071.1	NP_001243000.1	Q63HN8	RN213_HUMAN	ring finger protein 213	4708					ATP catabolic process (GO:0006200)|protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATPase activity (GO:0016887)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			CAAGATAAGCGTATCAGCTCT	0.438																																						ENST00000582970.1																			0				NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130						c.(14122-14124)cGt>cAt		ring finger protein 213							102	93	96					17																	78357529		2203	4300	6503	SO:0001583	missense	57674							g.chr17:78357529G>A	AK074030	CCDS58606.1	17q25.3	2013-01-09	2007-02-08	2007-02-08		ENSG00000173821		"RING-type (C3HC4) zinc fingers"	14539	protein-coding gene	gene with protein product		613768	"chromosome 17 open reading frame 27", "KIAA1618", "moyamoya disease 2", "Moyamoya disease 2"	C17orf27, KIAA1618, MYMY2		10997877, 21048783, 21799892	Standard	NM_020954		Approved	KIAA1554, NET57	uc021uen.2	Q63HN8		ENST00000582970.1:c.14123G>A	17.37:g.78357529G>A	ENSP00000464087:p.Arg4708His					RNF213_ENST00000427003.3_3'UTR|CTD-2047H16.4_ENST00000575034.1_RNA|CTD-2047H16.4_ENST00000572151.1_RNA|RNF213_ENST00000336301.6_Missense_Mutation_p.R2781H|RNF213_ENST00000508628.2_Missense_Mutation_p.R4757H|CTD-2047H16.4_ENST00000573394.1_RNA	p.R4708H	NM_001256071.1	NP_001243000.1	Q9HCF4	ALO17_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)		59	14266	+	all_neural(118;0.0538)		0					C9JCP4|D6RI12|F8WKS1|Q658P6|Q69YK7|Q6MZR1|Q8IWF4|Q8IZX1|Q8IZX2|Q8N406|Q8TEU0|Q9H6C9|Q9H6H9|Q9H6P3|Q9H8A9|Q9HCF4|Q9HCL8	Missense_Mutation	SNP	ENST00000582970.1	37	c.14123G>A	CCDS58606.1	.	.	.	.	.	.	.	.	.	.	G	15.28	2.785356	0.49997	.	.	ENSG00000173821	ENST00000508628;ENST00000411702;ENST00000336301;ENST00000427003	T;T	0.61859	0.98;0.07	5.26	3.3	0.37823	.	0.143817	0.44902	N	0.000418	T	0.53045	0.1772	M	0.73962	2.25	0.30733	N	0.747002	P	0.34587	0.458	B	0.25506	0.061	T	0.61073	-0.7136	10	0.72032	D	0.01	.	11.6547	0.51311	0.1427:0.0:0.8573:0.0	.	2781	Q63HN8	RN213_HUMAN	H	4708;4757;2781;58	ENSP00000425956:R4708H;ENSP00000338218:R2781H	ENSP00000338218:R2781H	R	+	2	0	RNF213	75972124	1.000000	0.71417	0.077000	0.20336	0.797000	0.45037	6.864000	0.75494	0.799000	0.34018	0.655000	0.94253	CGT		0.438	RNF213-020	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000443298.1	NM_020914		13	56	0	0	0	1	0	13	56					A	78357529	G	A	78357529	3	1	286	1	0	0	0	0	1	0	0	0	13477	1145	40	1	14672	1	RNF213	17	78357529	Missense_Mutation	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	36560	78357529	2837681	572	13702											
RNF213	57674	broad.mit.edu	37	chr17	78363706	78363706	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ataagtctgaacagctgctgCggctgcacaaagtaagtctg	12	9	11	9	1	2	1	0	1	2	0	2	1	2	1	0	1	5	5	0	1	4	2			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr17:78363706C>T	ENST00000582970.1	+	66	15417	c.15274C>T	c.(15274-15276)Cgg>Tgg	p.R5092W	RNF213_ENST00000427003.3_3'UTR|RNF213_ENST00000508628.2_Missense_Mutation_p.R5141W|CTD-2047H16.4_ENST00000572151.1_RNA|CTD-2047H16.4_ENST00000575034.1_RNA|CTD-2047H16.4_ENST00000573394.1_RNA|RNF213_ENST00000336301.6_Missense_Mutation_p.R3165W	NM_001256071.1	NP_001243000.1	Q63HN8	RN213_HUMAN	ring finger protein 213	5092					ATP catabolic process (GO:0006200)|protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATPase activity (GO:0016887)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			ACAGCTGCTGCGGCTGCACAA	0.507																																						ENST00000582970.1																			0				NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130						c.(15274-15276)Cgg>Tgg		ring finger protein 213							95	92	93					17																	78363706		2203	4300	6503	SO:0001583	missense	57674							g.chr17:78363706C>T	AK074030	CCDS58606.1	17q25.3	2013-01-09	2007-02-08	2007-02-08		ENSG00000173821		"RING-type (C3HC4) zinc fingers"	14539	protein-coding gene	gene with protein product		613768	"chromosome 17 open reading frame 27", "KIAA1618", "moyamoya disease 2", "Moyamoya disease 2"	C17orf27, KIAA1618, MYMY2		10997877, 21048783, 21799892	Standard	NM_020954		Approved	KIAA1554, NET57	uc021uen.2	Q63HN8		ENST00000582970.1:c.15274C>T	17.37:g.78363706C>T	ENSP00000464087:p.Arg5092Trp					RNF213_ENST00000427003.3_3'UTR|CTD-2047H16.4_ENST00000575034.1_RNA|CTD-2047H16.4_ENST00000572151.1_RNA|RNF213_ENST00000336301.6_Missense_Mutation_p.R3165W|RNF213_ENST00000508628.2_Missense_Mutation_p.R5141W|CTD-2047H16.4_ENST00000573394.1_RNA	p.R5092W	NM_001256071.1	NP_001243000.1	Q9HCF4	ALO17_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)		66	15417	+	all_neural(118;0.0538)		0					C9JCP4|D6RI12|F8WKS1|Q658P6|Q69YK7|Q6MZR1|Q8IWF4|Q8IZX1|Q8IZX2|Q8N406|Q8TEU0|Q9H6C9|Q9H6H9|Q9H6P3|Q9H8A9|Q9HCF4|Q9HCL8	Missense_Mutation	SNP	ENST00000582970.1	37	c.15274C>T	CCDS58606.1	.	.	.	.	.	.	.	.	.	.	C	18.82	3.704728	0.68615	.	.	ENSG00000173821	ENST00000508628;ENST00000411702;ENST00000336301;ENST00000427003	T	0.25579	1.79	5.38	1.96	0.26148	.	0.248373	0.32190	N	0.006452	T	0.42877	0.1222	M	0.80982	2.52	0.18873	N	0.999989	D;D	0.89917	0.999;1.0	P;P	0.61722	0.893;0.891	T	0.19516	-1.0303	10	0.66056	D	0.02	.	6.068	0.19873	0.2803:0.5434:0.104:0.0724	.	5092;3165	D6RI12;Q63HN8	.;RN213_HUMAN	W	5092;5141;3165;442	ENSP00000338218:R3165W	ENSP00000338218:R3165W	R	+	1	2	RNF213	75978301	0.995000	0.38212	0.303000	0.25071	0.830000	0.47004	1.714000	0.37961	0.602000	0.29896	0.655000	0.94253	CGG		0.507	RNF213-020	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000443298.1	NM_020914		7	60	0	0	0	1	0	7	60					T	78363706	C	T	78363706	3	4	286	1	0	0	0	0	1	0	0	0	13477	759	27	1	15851	1	RNF213	17	78363706	Missense_Mutation	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	6177	78363706	2831504	573	13703											
C17orf56	146705	broad.mit.edu	37	chr17	79207242	79207242	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccccactcacccgtgcggccGtgttccttgctgtagccgaa	5	9	10	17	4	1	0	1	0	0	0	2	1	2	0	6	1	3	3	6	1	2	3			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr17:79207242G>A	ENST00000300714.3	-	7	573	c.516C>T	c.(514-516)caC>caT	p.H172H	AC027601.1_ENST00000575922.1_RNA|ENTHD2_ENST00000374769.2_Silent_p.H20H|AC027601.1_ENST00000569559.1_RNA	NM_144679.2	NP_653280.1	Q96N21	AP4AT_HUMAN	ENTH domain containing 2	172						cytoplasmic vesicle (GO:0031410)											CCGTGCGGCCGTGTTCCTTGC	0.682																																						ENST00000374769.2																			0											c.(58-60)caC>caT		ENTH domain containing 2							46	43	44					17																	79207242		2203	4300	6503	SO:0001819	synonymous_variant	146705							g.chr17:79207242G>A	AK056090	CCDS11779.1	17q25.3	2012-07-18	2012-07-18	2012-07-18	ENSG00000167302	ENSG00000167302			26458	protein-coding gene	gene with protein product			"chromosome 17 open reading frame 56"	C17orf56			Standard	NM_144679		Approved	FLJ31528	uc002jzu.2	Q96N21	OTTHUMG00000177866	ENST00000300714.3:c.516C>T	17.37:g.79207242G>A						ENTHD2_ENST00000300714.3_Silent_p.H172H|AC027601.1_ENST00000575922.1_RNA	p.H20H							7	537	-								Q6ZQU0|Q6ZSQ9	Silent	SNP	ENST00000300714.3	37	c.60C>T	CCDS11779.1																																																																																				0.682	ENTHD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439315.1	NM_144679		3	24	0	0	0	1	0	3	24					A	79207242	G	A	79207242	2	1	286	1	0	0	0	0	0	0	0	1	1864	1136	40	1		1	C17orf56	17	79207242	Silent	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	843536	79207242	1987968	574	13704											
CCDC57	284001	broad.mit.edu	37	chr17	80121119	80121119	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcaggtttaggagctgcactCtgtccccgagcttcctgagt	6	11	12	12	1	1	1	0	1	1	0	3	3	3	2	3	2	3	5	3	2	1	3			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr17:80121119C>T	ENST00000389641.4	-	13	2033	c.1997G>A	c.(1996-1998)aGa>aAa	p.R666K	CCDC57_ENST00000392347.1_Missense_Mutation_p.R666K|CCDC57_ENST00000327026.3_5'UTR|CCDC57_ENST00000392343.3_Missense_Mutation_p.R666K|RP11-1376P16.1_ENST00000582774.1_RNA			Q2TAC2	CCD57_HUMAN	coiled-coil domain containing 57	666										endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(1)	16	Breast(20;0.00285)|all_neural(118;0.0878)|all_lung(278;0.0949)|Lung NSC(278;0.128)|Ovarian(332;0.227)		BRCA - Breast invasive adenocarcinoma(99;0.0232)|OV - Ovarian serous cystadenocarcinoma(97;0.0253)			GAGCTGCACTCTGTCCCCGAG	0.597																																						ENST00000389641.4																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(1)	16						c.(1996-1998)aGa>aAa		coiled-coil domain containing 57							135	143	140					17																	80121119		2072	4194	6266	SO:0001583	missense	284001							g.chr17:80121119C>T	BC040264		17q25.3	2006-03-08			ENSG00000176155	ENSG00000176155			27564	protein-coding gene	gene with protein product						12477932	Standard	XM_006722279		Approved	FLJ00130, FLJ23754	uc002kdx.1	Q2TAC2	OTTHUMG00000140396	ENST00000389641.4:c.1997G>A	17.37:g.80121119C>T	ENSP00000374292:p.Arg666Lys					CCDC57_ENST00000392347.1_Missense_Mutation_p.R666K|CCDC57_ENST00000392343.3_Missense_Mutation_p.R666K|CCDC57_ENST00000327026.3_5'UTR	p.R666K			Q2TAC2	CCD57_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0232)|OV - Ovarian serous cystadenocarcinoma(97;0.0253)		13	2033	-	Breast(20;0.00285)|all_neural(118;0.0878)|all_lung(278;0.0949)|Lung NSC(278;0.128)|Ovarian(332;0.227)		666					A6NP51|A8MQC7|Q8IWG2|Q8TER3	Missense_Mutation	SNP	ENST00000389641.4	37	c.1997G>A		.	.	.	.	.	.	.	.	.	.	C	14.25	2.478098	0.44044	.	.	ENSG00000176155	ENST00000389641;ENST00000392347;ENST00000327026;ENST00000392343	T;T;T	0.28454	2.82;2.82;1.61	2.86	2.86	0.33363	.	0.152318	0.30519	N	0.009453	T	0.39118	0.1066	L	0.40543	1.245	0.26215	N	0.979243	B;D	0.67145	0.041;0.996	B;D	0.72625	0.026;0.978	T	0.08638	-1.0712	10	0.23891	T	0.37	-8.6173	9.3821	0.38320	0.0:1.0:0.0:0.0	.	666;666	Q2TAC2-2;Q2TAC2	.;CCD57_HUMAN	K	666;666;174;666	ENSP00000374292:R666K;ENSP00000376158:R666K;ENSP00000376154:R666K	ENSP00000315967:R174K	R	-	2	0	CCDC57	77714408	0.085000	0.21516	0.024000	0.17045	0.473000	0.32948	2.998000	0.49465	1.907000	0.55213	0.557000	0.71058	AGA		0.597	CCDC57-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000277182.3	NM_198082		33	152	0	0	0	1	0	33	152					T	80121119	C	T	80121119	3	4	286	1	0	0	0	0	1	0	0	0	2827	913	32	3	770	3	CCDC57	17	80121119	Missense_Mutation	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	913877	80121119	1074091	575	13705											
MYOM1	8736	broad.mit.edu	37	chr18	3215102	3215102	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ctgtaggccgtggagccctgGgtgtagacggcggagcgttt	5	9	18	9	4	0	1	0	0	0	1	0	3	0	3	2	5	2	3	2	5	2	3			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr18:3215102G>A	ENST00000356443.4	-	2	453	c.120C>T	c.(118-120)acC>acT	p.T40T	RP13-270P17.2_ENST00000580139.1_RNA|MYOM1_ENST00000400569.3_Silent_p.T40T|MYOM1_ENST00000261606.7_Silent_p.T40T	NM_003803.3|NM_019856.1	NP_003794.3|NP_062830.1	P52179	MYOM1_HUMAN	myomesin 1	40					muscle contraction (GO:0006936)	M band (GO:0031430)|striated muscle myosin thick filament (GO:0005863)	identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|structural constituent of muscle (GO:0008307)			NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						TGGAGCCCTGGGTGTAGACGG	0.677																																						ENST00000400569.3																			0				NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						c.(118-120)acC>acT		myomesin 1							37	45	43					18																	3215102		2052	4202	6254	SO:0001819	synonymous_variant	8736					striated muscle myosin thick filament	structural constituent of muscle	g.chr18:3215102G>A	AF185573	CCDS45823.1, CCDS45824.1	18p11.31	2014-09-17	2012-10-17		ENSG00000101605	ENSG00000101605		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	7613	protein-coding gene	gene with protein product	"skelemin"	603508	"myomesin 1 (skelemin) (185kD)", "myomesin 1 (skelemin) 185kDa", "myomesin 1, 185kDa"			9806852	Standard	NM_019856		Approved		uc002klp.3	P52179	OTTHUMG00000178209	ENST00000356443.4:c.120C>T	18.37:g.3215102G>A						MYOM1_ENST00000261606.7_Silent_p.T40T|MYOM1_ENST00000356443.4_Silent_p.T40T|RP13-270P17.2_ENST00000580139.1_RNA	p.T40T			P52179	MYOM1_HUMAN			2	453	-			40					Q14BD6|Q6H969|Q6ZUU0	Silent	SNP	ENST00000356443.4	37	c.120C>T	CCDS45824.1																																																																																				0.677	MYOM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000441037.2	NM_003803		14	40	0	0	0	1	0	14	40					A	3215102	G	A	3215102	2	1	286	1	0	0	0	0	0	0	0	1	10091	1219	43	3		3	MYOM1	18	3215102	Silent	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08		3215102	74862146	576	13706											
DLGAP1	9229	broad.mit.edu	37	chr18	3879678	3879678	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcggccggggctgtcgctgcGgtgctccacggccgtgcgct	1	7	18	15	7	0	0	0	0	0	0	2	0	1	0	3	5	3	4	3	5	0	0			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr18:3879678G>A	ENST00000315677.3	-	4	986	c.391C>T	c.(391-393)Cgc>Tgc	p.R131C	DLGAP1_ENST00000584874.1_Missense_Mutation_p.R131C|DLGAP1_ENST00000515196.2_Missense_Mutation_p.R131C|DLGAP1-AS3_ENST00000577649.1_RNA|DLGAP1_ENST00000581527.1_Missense_Mutation_p.R131C	NM_004746.3	NP_004737.2	O14490	DLGP1_HUMAN	discs, large (Drosophila) homolog-associated protein 1	131					synaptic transmission (GO:0007268)	cell junction (GO:0030054)|neuronal postsynaptic density (GO:0097481)|postsynaptic membrane (GO:0045211)				breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	56		Colorectal(8;0.0257)				CTGTCGCTGCGGTGCTCCACG	0.677																																						ENST00000315677.3																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	56						c.(391-393)Cgc>Tgc		discs, large (Drosophila) homolog-associated protein 1							60	67	65					18																	3879678		2203	4298	6501	SO:0001583	missense	9229				synaptic transmission	cell junction|postsynaptic density|postsynaptic membrane		g.chr18:3879678G>A	AB000277	CCDS11836.1, CCDS42406.1, CCDS56049.1, CCDS56050.1, CCDS56051.1, CCDS56052.1, CCDS56053.1, CCDS74191.1	18p11.3	2008-07-28	2001-11-28		ENSG00000170579	ENSG00000170579			2905	protein-coding gene	gene with protein product		605445	"discs, large (Drosophila) homolog-associated protein 1"			9024696, 9286858	Standard	NM_004746		Approved	GKAP, SAPAP1, DAP-1	uc002kmf.3	O14490	OTTHUMG00000131537	ENST00000315677.3:c.391C>T	18.37:g.3879678G>A	ENSP00000316377:p.Arg131Cys					DLGAP1_ENST00000515196.2_Missense_Mutation_p.R131C|DLGAP1_ENST00000581527.1_Missense_Mutation_p.R131C|DLGAP1_ENST00000584874.1_Missense_Mutation_p.R131C|DLGAP1-AS3_ENST00000577649.1_RNA	p.R131C	NM_004746.3	NP_004737.2	O14490	DLGP1_HUMAN			4	986	-		Colorectal(8;0.0257)	131					A8MWN8|B2RMU8|B7WPA1|B7Z2H2|B7Z2I2|B7Z9Y4|O14489|P78335	Missense_Mutation	SNP	ENST00000315677.3	37	c.391C>T	CCDS11836.1	.	.	.	.	.	.	.	.	.	.	G	26.2	4.719560	0.89205	.	.	ENSG00000170579	ENST00000315677;ENST00000515196	T;T	0.21361	2.01;2.01	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	T	0.53190	0.1781	M	0.85859	2.78	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	P;D;D	0.71414	0.869;0.938;0.973	T	0.59611	-0.7422	10	0.87932	D	0	-23.076	19.4529	0.94875	0.0:0.0:1.0:0.0	.	131;131;131	B7Z9Y4;Q6IS01;O14490	.;.;DLGP1_HUMAN	C	131	ENSP00000316377:R131C;ENSP00000445973:R131C	ENSP00000316377:R131C	R	-	1	0	DLGAP1	3869678	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.830000	0.99415	2.595000	0.87683	0.655000	0.94253	CGC		0.677	DLGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254394.4			14	127	0	0	0	1	0	14	127					A	3879678	G	A	3879678	3	1	286	1	0	0	0	0	1	0	0	0	4559	1116	39	2	2637	2	DLGAP1	18	3879678	Missense_Mutation	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	664576	3879678	74197570	577	13707											
LAMA1	284217	broad.mit.edu	37	chr18	6959468	6959468	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgtacctcaatgttgcctccGatcagcatgacggaaaagaa	13	9	9	10	2	2	2	2	1	0	1	3	4	3	3	3	1	3	3	3	1	5	2			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr18:6959468G>A	ENST00000389658.3	-	54	7743	c.7650C>T	c.(7648-7650)atC>atT	p.I2550I	RP11-781P6.1_ENST00000584722.1_RNA	NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	2550	Laminin G-like 3. {ECO:0000255|PROSITE- ProRule:PRU00122}.				axon guidance (GO:0007411)|branching involved in salivary gland morphogenesis (GO:0060445)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment of epithelial cell apical/basal polarity (GO:0045198)|extracellular matrix organization (GO:0030198)|morphogenesis of an epithelial sheet (GO:0002011)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|laminin-1 complex (GO:0005606)|laminin-3 complex (GO:0005608)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)				TGTTGCCTCCGATCAGCATGA	0.478																																						ENST00000389658.3																			0				NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205						c.(7648-7650)atC>atT		laminin, alpha 1	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						89	74	79					18																	6959468		2203	4300	6503	SO:0001819	synonymous_variant	284217				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding	g.chr18:6959468G>A	X58531	CCDS32787.1	18p11.3	2013-03-01			ENSG00000101680	ENSG00000101680		"Laminins"	6481	protein-coding gene	gene with protein product		150320		LAMA		2591971	Standard	NM_005559		Approved		uc002knm.3	P25391	OTTHUMG00000133478	ENST00000389658.3:c.7650C>T	18.37:g.6959468G>A							p.I2550I	NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN			54	7743	-		Colorectal(10;0.172)	2550			Laminin G-like 3.			Silent	SNP	ENST00000389658.3	37	c.7650C>T	CCDS32787.1																																																																																				0.478	LAMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257369.1	NM_005559		9	42	0	0	0	1	0	9	42					A	6959468	G	A	6959468	2	1	286	1	0	0	0	0	0	0	0	1	8605	1048	37	2		2	LAMA1	18	6959468	Silent	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	3079790	6959468	71117780	578	13708											
KIAA0802	23255	broad.mit.edu	37	chr18	8783876	8783876	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agggcccgggtcgggaccacGcacccagcattcctacctca	8	5	11	17	3	1	0	1	0	0	0	3	1	2	1	5	3	2	2	5	3	1	2			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr18:8783876G>A	ENST00000306329.11	+	5	1846	c.1846G>A	c.(1846-1848)Gca>Aca	p.A616T	SOGA2_ENST00000517570.1_Missense_Mutation_p.A256T|SOGA2_ENST00000306285.7_5'UTR|SOGA2_ENST00000400050.3_Missense_Mutation_p.A256T|SOGA2_ENST00000359865.3_Missense_Mutation_p.A256T														p.A256T(1)									TCGGGACCACGCACCCAGCAT	0.652																																						ENST00000359865.3																			1	Substitution - Missense(1)	p.A256T(1)	large_intestine(1)								c.(766-768)Gca>Aca		SOGA family member 2							54	55	55					18																	8783876		2203	4300	6503	SO:0001583	missense	23255							g.chr18:8783876G>A																												ENST00000306329.11:c.1846G>A	18.37:g.8783876G>A	ENSP00000305027:p.Ala616Thr					SOGA2_ENST00000306329.11_Missense_Mutation_p.A616T|SOGA2_ENST00000306285.7_5'UTR|SOGA2_ENST00000517570.1_Missense_Mutation_p.A256T|SOGA2_ENST00000400050.3_Missense_Mutation_p.A256T	p.A256T	NM_015210.3	NP_056025.2	Q9Y4B5	CC165_HUMAN			6	908	+			607			Pro-rich.			Missense_Mutation	SNP	ENST00000306329.11	37	c.766G>A		.	.	.	.	.	.	.	.	.	.	G	4.167	0.029529	0.08054	.	.	ENSG00000168502	ENST00000306329;ENST00000517570;ENST00000359865;ENST00000400050	T;T;T	0.14144	2.53;2.54;2.53	5.67	-6.8	0.01709	.	2.239820	0.01810	N	0.033407	T	0.05044	0.0135	N	0.08118	0	0.33152	D	0.545855	P;P	0.38370	0.628;0.621	B;B	0.27500	0.037;0.08	T	0.35943	-0.9768	10	0.13108	T	0.6	-0.034	10.2394	0.43303	0.2305:0.3673:0.4021:0.0	.	277;256	A8MQ54;Q9Y4B5-3	.;.	T	277;256;256;256	ENSP00000429556:A256T;ENSP00000352927:A256T;ENSP00000382924:A256T	ENSP00000305027:A277T	A	+	1	0	CCDC165	8773876	0.000000	0.05858	0.000000	0.03702	0.146000	0.21551	-0.429000	0.06982	-1.179000	0.02737	-0.315000	0.08773	GCA		0.652	SOGA2-015	PUTATIVE	basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000444141.1			12	96	0	0	0	1	0	12	96					A	8783876	G	A	8783876	3	1	286	1	0	0	0	0	1	0	0	0	8194	1087	38	1	780	1	KIAA0802	18	8783876	Missense_Mutation	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	1824408	8783876	69293372	579	13709											
ZNF521	25925	broad.mit.edu	37	chr18	22806101	22806101	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atttcttcccattgtggataTaattcagggccaagggaatg	11	13	10	7	0	2	0	1	0	1	0	3	2	3	2	2	3	0	0	2	3	4	6			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr18:22806101T>A	ENST00000361524.3	-	4	1929	c.1781A>T	c.(1780-1782)tAt>tTt	p.Y594F	ZNF521_ENST00000579111.1_5'Flank|ZNF521_ENST00000584787.1_Missense_Mutation_p.Y374F|ZNF521_ENST00000538137.2_Missense_Mutation_p.Y594F	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521	594					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein domain specific binding (GO:0019904)			NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					ATTGTGGATATAATTCAGGGC	0.428			T	PAX5	ALL																																	ENST00000361524.3				Dom	yes		18	18q11.2	25925	T	zinc finger protein 521			L	PAX5		ALL		0				NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149						c.(1780-1782)tAt>tTt		zinc finger protein 521							113	115	114					18																	22806101		2203	4300	6503	SO:0001583	missense	25925				cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein domain specific binding|zinc ion binding	g.chr18:22806101T>A	AK027354	CCDS32806.1	18q11.2	2013-01-08				ENSG00000198795		"Zinc fingers, C2H2-type"	24605	protein-coding gene	gene with protein product	"early hematopoietic zinc finger"	610974				11984006, 14630787	Standard	NM_015461		Approved	EHZF, Evi3	uc002kvk.2	Q96K83		ENST00000361524.3:c.1781A>T	18.37:g.22806101T>A	ENSP00000354794:p.Tyr594Phe					ZNF521_ENST00000584787.1_Missense_Mutation_p.Y374F|ZNF521_ENST00000538137.2_Missense_Mutation_p.Y594F	p.Y594F	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN			4	1929	-	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)		594					A3QVP7|B0YJB7|Q8IXI0|Q8TES6|Q9C065|Q9HAL5|Q9UFK4	Missense_Mutation	SNP	ENST00000361524.3	37	c.1781A>T	CCDS32806.1	.	.	.	.	.	.	.	.	.	.	T	10.91	1.484093	0.26598	.	.	ENSG00000198795	ENST00000361524;ENST00000538137;ENST00000399425	T;T	0.08896	3.04;3.07	5.98	5.98	0.97165	.	0.000000	0.85682	D	0.000000	T	0.13628	0.0330	N	0.14661	0.345	0.38650	D	0.951815	D	0.58268	0.982	D	0.67548	0.952	T	0.42481	-0.9449	10	0.15952	T	0.53	-26.6987	16.4781	0.84144	0.0:0.0:0.0:1.0	.	594	Q96K83	ZN521_HUMAN	F	594;628;594	ENSP00000354794:Y594F;ENSP00000382352:Y594F	ENSP00000354794:Y594F	Y	-	2	0	ZNF521	21060099	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.474000	0.81024	2.288000	0.76882	0.528000	0.53228	TAT		0.428	ZNF521-001	KNOWN	overlapping_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446781.2	NM_015461		8	33	0	0	0	1	0	8	33					A	22806101	T	A	22806101	3	1	286	1	0	0	0	0	1	0	0	0	17962	1406	49	5	2174	5	ZNF521	18	22806101	Missense_Mutation	SNP	T	TCGA-J9-A52C-01A-11D-A26M-08	14022225	22806101	55271147	580	13710											
AQP4	361	broad.mit.edu	37	chr18	24442304	24442304	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggccacagtcactgcagggtTgatgtggccaccgctgatat	8	9	13	11	1	1	2	1	2	0	0	1	2	1	2	3	3	1	3	3	3	1	2			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr18:24442304T>C	ENST00000383168.4	-	2	417	c.289A>G	c.(289-291)Aac>Gac	p.N97D	AQP4-AS1_ENST00000579964.1_RNA|AQP4-AS1_ENST00000568797.1_RNA|AQP4-AS1_ENST00000578701.1_RNA|AQP4_ENST00000581374.1_Missense_Mutation_p.N75D|AQP4_ENST00000583022.1_5'Flank|AQP4-AS1_ENST00000582605.1_RNA|AQP4_ENST00000440832.3_Missense_Mutation_p.N75D	NM_001650.4|NM_004028.3	NP_001641.1|NP_004019.1	P55087	AQP4_HUMAN	aquaporin 4	97					carbon dioxide transport (GO:0015670)|cellular response to estradiol stimulus (GO:0071392)|cellular response to interferon-gamma (GO:0071346)|female pregnancy (GO:0007565)|hyperosmotic salinity response (GO:0042538)|multicellular organismal water homeostasis (GO:0050891)|protein homooligomerization (GO:0051260)|renal water absorption (GO:0070295)|response to glucocorticoid (GO:0051384)|response to radiation (GO:0009314)|sensory perception of sound (GO:0007605)|transmembrane transport (GO:0055085)|transport (GO:0006810)|water transport (GO:0006833)	basolateral plasma membrane (GO:0016323)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|T-tubule (GO:0030315)	porin activity (GO:0015288)|water channel activity (GO:0015250)|water transmembrane transporter activity (GO:0005372)			kidney(2)|large_intestine(3)|lung(5)|skin(1)	11	all_cancers(21;0.0172)|Lung NSC(5;0.00299)|all_lung(6;0.00747)|Ovarian(20;0.124)					ACTGCAGGGTTGATGTGGCCA	0.552																																						ENST00000383168.4																			0				kidney(2)|large_intestine(3)|lung(5)|skin(1)	11						c.(289-291)Aac>Gac		aquaporin 4							111	95	100					18																	24442304		2203	4300	6503	SO:0001583	missense	361				cellular response to interferon-gamma|excretion|nervous system development	cytoplasm|external side of plasma membrane|integral to plasma membrane	water channel activity	g.chr18:24442304T>C	U63622	CCDS11889.1, CCDS58617.1	18q11.2-q12.1	2005-09-20			ENSG00000171885	ENSG00000171885		"Ion channels / Aquaporins"	637	protein-coding gene	gene with protein product		600308				7528931	Standard	NM_001650		Approved	MIWC	uc002kwa.3	P55087	OTTHUMG00000131955	ENST00000383168.4:c.289A>G	18.37:g.24442304T>C	ENSP00000372654:p.Asn97Asp					AQP4_ENST00000581374.1_Missense_Mutation_p.N75D|AQP4-AS1_ENST00000582605.1_RNA|AQP4-AS1_ENST00000579964.1_RNA|AQP4_ENST00000440832.3_Missense_Mutation_p.N75D	p.N97D	NM_001650.4|NM_004028.3	NP_001641.1|NP_004019.1	P55087	AQP4_HUMAN			2	417	-	all_cancers(21;0.0172)|Lung NSC(5;0.00299)|all_lung(6;0.00747)|Ovarian(20;0.124)		97					P78564	Missense_Mutation	SNP	ENST00000383168.4	37	c.289A>G	CCDS11889.1	.	.	.	.	.	.	.	.	.	.	T	22.7	4.323167	0.81580	.	.	ENSG00000171885	ENST00000383168;ENST00000383170	D	0.98649	-5.05	5.57	5.57	0.84162	Major intrinsic protein, conserved site (1);Aquaporin-like (2);	0.000000	0.85682	D	0.000000	D	0.99536	0.9834	H	0.98901	4.365	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	D	0.97772	1.0227	10	0.87932	D	0	.	15.7258	0.77756	0.0:0.0:0.0:1.0	.	97	P55087	AQP4_HUMAN	D	97;104	ENSP00000372654:N97D	ENSP00000372654:N97D	N	-	1	0	AQP4	22696302	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	8.033000	0.88852	2.111000	0.64477	0.379000	0.24179	AAC		0.552	AQP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254914.2	NM_001650, NM_004028		19	72	0	0	0	1	0	19	72					C	24442304	T	C	24442304	3	2	286	1	0	0	0	0	1	0	0	0	828	1812	63	4	698	4	AQP4	18	24442304	Missense_Mutation	SNP	T	TCGA-J9-A52C-01A-11D-A26M-08	1636203	24442304	53634944	581	13711											
DSG2	1829	broad.mit.edu	37	chr18	29099850	29099850	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgcctggatcaccgcccccGtggctcttcgggagggagag	5	6	16	14	4	2	1	1	0	1	1	3	4	2	3	4	4	0	1	4	4	0	1	rs121913013		TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr18:29099850G>A	ENST00000261590.8	+	3	375	c.166G>A	c.(166-168)Gtg>Atg	p.V56M	DSG2_ENST00000585206.1_Missense_Mutation_p.V56M	NM_001943.3	NP_001934.2	Q14126	DSG2_HUMAN	desmoglein 2	56	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.		V -> M (associated with CMD1BB and ARVD10 although it may not be sufficient by itself to result in cardiomyopathy; dbSNP:rs121913013). {ECO:0000269|PubMed:18678517, ECO:0000269|PubMed:20031617}.		apoptotic process (GO:0006915)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cell adhesion (GO:0007155)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|homophilic cell adhesion (GO:0007156)|maternal process involved in female pregnancy (GO:0060135)|regulation of heart rate by cardiac conduction (GO:0086091)|response to progesterone (GO:0032570)|ventricular cardiac muscle cell action potential (GO:0086005)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(2)|prostate(4)|skin(2)|urinary_tract(1)	49			OV - Ovarian serous cystadenocarcinoma(10;0.0068)			CACCGCCCCCGTGGCTCTTCG	0.443													G|||	1	0.000199681	0	0	5008	,	,		16402	0		0.001	False		,,,				2504	0					ENST00000261590.8																			0				breast(2)|central_nervous_system(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(2)|prostate(4)|skin(2)|urinary_tract(1)	49	GRCh37	CM070918	DSG2	M	rs121913013	c.(166-168)Gtg>Atg		desmoglein 2		G	MET/VAL	2,3754		0,2,1876	68	70	70	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	166	5.2	0.2	18	dbSNP_133	70	29,8193		0,29,4082	yes	missense	DSG2	NM_001943.3	21	0,31,5958	AA,AG,GG		0.3527,0.0532,0.2588	probably-damaging	56/1119	29099850	31,11947	1878	4111	5989	SO:0001583	missense	1829				cellular component disassembly involved in apoptosis|homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding	g.chr18:29099850G>A	Z26317	CCDS42423.1	18q12.1	2014-09-17				ENSG00000046604		"Cadherins / Major cadherins"	3049	protein-coding gene	gene with protein product		125671				1612610	Standard	NM_001943		Approved	CDHF5	uc002kwu.4	Q14126		ENST00000261590.8:c.166G>A	18.37:g.29099850G>A	ENSP00000261590:p.Val56Met					DSG2_ENST00000585206.1_Missense_Mutation_p.V56M	p.V56M	NM_001943.3	NP_001934.2	Q14126	DSG2_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.0068)		3	375	+			56		V -> M (associated with CMD1BB and ARVD10 although it may not be sufficient by itself to result in cardiomyopathy).	Cadherin 1.		Q4KKU6	Missense_Mutation	SNP	ENST00000261590.8	37	c.166G>A	CCDS42423.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	11.81	1.749289	0.30955	5.32E-4	0.003527	ENSG00000046604	ENST00000261590	T	0.59772	0.24	5.21	5.21	0.72293	Cadherin-like (1);	0.217411	0.22550	U	0.058601	T	0.62756	0.2454	L	0.37897	1.145	0.09310	N	0.999998	D	0.71674	0.998	P	0.55965	0.788	T	0.57608	-0.7782	10	0.45353	T	0.12	.	17.299	0.87177	0.0:0.0:1.0:0.0	.	56	Q14126	DSG2_HUMAN	M	56	ENSP00000261590:V56M	ENSP00000261590:V56M	V	+	1	0	DSG2	27353848	1.000000	0.71417	0.156000	0.22583	0.797000	0.45037	6.358000	0.73055	2.589000	0.87451	0.561000	0.74099	GTG		0.443	DSG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447506.1	NM_001943		14	30	0	0	0	1	0	14	30					A	29099850	G	A	29099850	3	1	286	1	0	0	0	0	1	0	0	0	4777	1145	40	1	176	1	DSG2	18	29099850	Missense_Mutation	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	4657546	29099850	48977398	582	13712											
FHOD3	80206	broad.mit.edu	37	chr18	34340709	34340709	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgtggaggacgccacccccGcgctgggcgtccgcacacgc	5	3	14	19	7	0	0	0	0	0	0	1	2	1	2	5	3	0	2	5	3	0	0			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr18:34340709G>A	ENST00000359247.4	+	22	3988	c.3988G>A	c.(3988-3990)Gcg>Acg	p.A1330T	FHOD3_ENST00000257209.4_Missense_Mutation_p.A1347T|FHOD3_ENST00000591635.1_Missense_Mutation_p.A543T|FHOD3_ENST00000592128.1_Missense_Mutation_p.A326T|FHOD3_ENST00000590592.1_Missense_Mutation_p.A1530T|FHOD3_ENST00000445677.1_Missense_Mutation_p.A1309T	NM_001281739.1	NP_001268668.1	Q2V2M9	FHOD3_HUMAN	formin homology 2 domain containing 3	1330					actin filament network formation (GO:0051639)|cardiac myofibril assembly (GO:0055003)|negative regulation of actin filament polymerization (GO:0030837)|sarcomere organization (GO:0045214)	striated muscle thin filament (GO:0005865)				NS(1)|breast(5)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|liver(2)|lung(29)|ovary(3)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	90		all_epithelial(2;0.0181)|Colorectal(2;0.0195)				CGCCACCCCCGCGCTGGGCGT	0.682																																						ENST00000257209.4																			0				NS(1)|breast(5)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|liver(2)|lung(29)|ovary(3)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	90						c.(4039-4041)Gcg>Acg		formin homology 2 domain containing 3							22	21	21					18																	34340709		2187	4292	6479	SO:0001583	missense	80206				actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding	g.chr18:34340709G>A	AK091899	CCDS32816.1, CCDS62418.1, CCDS62419.1	18q12	2007-08-02				ENSG00000134775			26178	protein-coding gene	gene with protein product		609691				11214970	Standard	NM_025135		Approved	FHOS2, KIAA1695, FLJ22297, FLJ22717	uc021uiv.1	Q2V2M9		ENST00000359247.4:c.3988G>A	18.37:g.34340709G>A	ENSP00000352186:p.Ala1330Thr					FHOD3_ENST00000359247.4_Missense_Mutation_p.A1330T|FHOD3_ENST00000591635.1_Missense_Mutation_p.A543T|FHOD3_ENST00000445677.1_Missense_Mutation_p.A1309T|FHOD3_ENST00000590592.1_Missense_Mutation_p.A1530T|FHOD3_ENST00000592128.1_Missense_Mutation_p.A326T	p.A1347T	NM_025135.2	NP_079411.2	Q2V2M9	FHOD3_HUMAN			23	4161	+		all_epithelial(2;0.0181)|Colorectal(2;0.0195)	1330					A8MQT4|E5F5Q0|Q642I2|Q6ZRQ7|Q86TF9|Q8N3A5|Q9C0G8|Q9H604|Q9H6G7	Missense_Mutation	SNP	ENST00000359247.4	37	c.4039G>A		.	.	.	.	.	.	.	.	.	.	G	7.734	0.699805	0.15106	.	.	ENSG00000134775	ENST00000257209;ENST00000359247;ENST00000445677	T;T;T	0.30182	1.55;1.54;1.54	5.16	3.36	0.38483	.	0.696895	0.14976	N	0.287541	T	0.09024	0.0223	N	0.00729	-1.24	0.23227	N	0.998082	B;B;B	0.16166	0.004;0.016;0.002	B;B;B	0.12837	0.005;0.002;0.008	T	0.32188	-0.9916	10	0.10111	T	0.7	.	10.7083	0.45969	0.1594:0.0:0.8406:0.0	.	1309;1330;1347	Q2V2M9-2;Q2V2M9;Q2V2M9-3	.;FHOD3_HUMAN;.	T	1347;1330;1309	ENSP00000257209:A1347T;ENSP00000352186:A1330T;ENSP00000411430:A1309T	ENSP00000257209:A1347T	A	+	1	0	FHOD3	32594707	0.998000	0.40836	0.057000	0.19452	0.533000	0.34776	3.221000	0.51215	0.560000	0.29169	0.561000	0.74099	GCG		0.682	FHOD3-001	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460884.1	XM_371114		6	26	0	0	0	1	0	6	26					A	34340709	G	A	34340709	3	1	286	1	0	0	0	0	1	0	0	0	5883	1087	38	1	4129	1	FHOD3	18	34340709	Missense_Mutation	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	5240859	34340709	43736539	583	13713											
KIAA1632	57724	broad.mit.edu	37	chr18	43481010	43481010	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtgcacaccagctgggtggCgtccttctgactcaatagca	8	10	11	12	1	2	1	1	1	1	0	3	1	3	1	2	2	3	3	2	2	2	2	rs374899586		TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr18:43481010C>T	ENST00000282041.5	-	26	4631	c.4597G>A	c.(4597-4599)Gcc>Acc	p.A1533T	EPG5_ENST00000585906.1_5'UTR	NM_020964.2	NP_066015.2	Q9HCE0	EPG5_HUMAN	ectopic P-granules autophagy protein 5 homolog (C. elegans)	1533					autophagic vacuole maturation (GO:0097352)|autophagy (GO:0006914)|endocytic recycling (GO:0032456)					NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	95						AGCTGGGTGGCGTCCTTCTGA	0.567																																						ENST00000282041.5																			0				NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	95						c.(4597-4599)Gcc>Acc		ectopic P-granules autophagy protein 5 homolog (C. elegans)		C	THR/ALA	1,4257		0,1,2128	72	77	75		4597	-9.6	0	18		75	0,8486		0,0,4243	no	missense	EPG5	NM_020964.2	58	0,1,6371	TT,TC,CC		0.0,0.0235,0.0078	benign	1533/2580	43481010	1,12743	2129	4243	6372	SO:0001583	missense	57724				autophagy			g.chr18:43481010C>T	AK023817	CCDS11926.2	18q12.3	2011-03-02	2011-03-02	2011-03-02	ENSG00000152223	ENSG00000152223			29331	protein-coding gene	gene with protein product		615068	"KIAA1632"	KIAA1632		10997877, 20550938	Standard	XM_005258323		Approved	hEPG5	uc002lbm.3	Q9HCE0	OTTHUMG00000132626	ENST00000282041.5:c.4597G>A	18.37:g.43481010C>T	ENSP00000282041:p.Ala1533Thr					EPG5_ENST00000585906.1_5'UTR	p.A1533T	NM_020964.2	NP_066015.2	Q9HCE0	EPG5_HUMAN			26	4631	-			1533					A2BDF3|Q9H8C8	Missense_Mutation	SNP	ENST00000282041.5	37	c.4597G>A	CCDS11926.2	.	.	.	.	.	.	.	.	.	.	C	12.64	1.999371	0.35226	2.35E-4	0.0	ENSG00000152223	ENST00000282041;ENST00000308403	T	0.10099	2.91	5.59	-9.57	0.00562	.	.	.	.	.	T	0.06142	0.0159	L	0.38175	1.15	0.18873	N	0.999984	B	0.15719	0.014	B	0.11329	0.006	T	0.32771	-0.9894	9	0.21540	T	0.41	1.8789	6.513	0.22232	0.0779:0.3445:0.0775:0.5002	.	1533	Q9HCE0	EPG5_HUMAN	T	1533;408	ENSP00000282041:A1533T	ENSP00000282041:A1533T	A	-	1	0	EPG5	41735008	0.001000	0.12720	0.002000	0.10522	0.955000	0.61496	-0.187000	0.09656	-1.941000	0.01042	0.563000	0.77884	GCC		0.567	EPG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445081.1	NM_020964		5	45	0	0	0	1	0	5	45					T	43481010	C	T	43481010	3	4	286	1	0	0	0	0	1	0	0	0	8249	768	27	1	3218	1	KIAA1632	18	43481010	Missense_Mutation	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	9140301	43481010	34596238	584	13714											
TCEB3C	728929	broad.mit.edu	37	chr18	44549172	44549172	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cattgtctttctctgtgcggTacggctgatcgggcgtccac	4	13	12	12	4	2	1	0	1	2	0	5	1	3	1	1	3	2	2	1	3	1	3			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr18:44549172T>C	ENST00000451265.1	-	1	1362	c.1127A>G	c.(1126-1128)tAc>tGc	p.Y376C	KATNAL2_ENST00000356157.7_Intron|KATNAL2_ENST00000592005.1_Intron|KATNAL2_ENST00000245121.5_Intron	NM_001100817.1	NP_001094287.1	Q3SY89	EA3L1_HUMAN	transcription elongation factor B polypeptide 3C-like	376	Activation domain. {ECO:0000250}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)			central_nervous_system(1)|lung(1)|prostate(1)	3						CTCTGTGCGGTACGGCTGATC	0.577																																						ENST00000451265.1																			0				central_nervous_system(1)|lung(1)|prostate(1)	3						c.(1126-1128)tAc>tGc		transcription elongation factor B polypeptide 3C-like							238	203	214					18																	44549172		1725	3426	5151	SO:0001583	missense	728929							g.chr18:44549172T>C			18q21.1	2007-07-10				ENSG00000275553			31007	protein-coding gene	gene with protein product							Standard	NM_001100817		Approved	HsT828		Q3SY89		ENST00000451265.1:c.1127A>G	18.37:g.44549172T>C	ENSP00000409932:p.Tyr376Cys					KATNAL2_ENST00000356157.7_Intron|KATNAL2_ENST00000592005.1_Intron|KATNAL2_ENST00000245121.5_Intron	p.Y376C	NM_001100817.1	NP_001094287.1					1	1362	-								Q3MI93	Missense_Mutation	SNP	ENST00000451265.1	37	c.1127A>G	CCDS42433.1	.	.	.	.	.	.	.	.	.	.	T	11.03	1.519461	0.27211	.	.	ENSG00000234298	ENST00000451265	T	0.31247	1.5	1.5	-1.56	0.08532	.	0.747399	0.11440	N	0.563885	T	0.22166	0.0534	L	0.42487	1.325	0.23685	N	0.997116	B	0.24132	0.098	B	0.30716	0.119	T	0.33189	-0.9878	10	0.48119	T	0.1	0.0182	2.4922	0.04613	0.234:0.1674:0.0:0.5986	.	376	Q3SY89	EA3L1_HUMAN	C	376	ENSP00000409932:Y376C	ENSP00000409932:Y376C	Y	-	2	0	TCEB3CL	42803170	1.000000	0.71417	0.000000	0.03702	0.000000	0.00434	3.346000	0.52190	-0.383000	0.07858	-0.451000	0.05528	TAC		0.577	TCEB3CL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451071.1	XM_001132059		19	354	0	0	0	1	0	19	354					C	44549172	T	C	44549172	3	2	286	1	0	0	0	0	1	0	0	0	15680	1638	57	4	517	4	TCEB3C	18	44549172	Missense_Mutation	SNP	T	TCGA-J9-A52C-01A-11D-A26M-08	1068162	44549172	33528076	585	13715											
CCDC11	220136	broad.mit.edu	37	chr18	47769458	47769458	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tctgtgccaaatatttatggTatatcttctgttctcttatc	8	20	5	8	0	4	0	0	0	4	0	6	0	4	0	1	1	1	2	1	1	6	8			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr18:47769458T>C	ENST00000398545.4	-	6	1142	c.1025A>G	c.(1024-1026)tAc>tGc	p.Y342C		NM_145020.3	NP_659457.2														endometrium(1)|kidney(4)|large_intestine(6)|lung(6)|ovary(1)|pancreas(1)|skin(1)	20				STAD - Stomach adenocarcinoma(97;2.66e-05)|Colorectal(21;7.57e-05)|Lung(128;0.00932)|READ - Rectum adenocarcinoma(32;0.164)		ATATTTATGGTATATCTTCTG	0.308																																						ENST00000398545.4																			0				endometrium(1)|kidney(4)|large_intestine(6)|lung(6)|ovary(1)|pancreas(1)|skin(1)	20						c.(1024-1026)tAc>tGc		coiled-coil domain containing 11							116	113	114					18																	47769458		1833	4090	5923	SO:0001583	missense	220136							g.chr18:47769458T>C																												ENST00000398545.4:c.1025A>G	18.37:g.47769458T>C	ENSP00000381553:p.Tyr342Cys						p.Y342C	NM_145020.3	NP_659457.2	Q96M91	CCD11_HUMAN		STAD - Stomach adenocarcinoma(97;2.66e-05)|Colorectal(21;7.57e-05)|Lung(128;0.00932)|READ - Rectum adenocarcinoma(32;0.164)	6	1142	-			342						Missense_Mutation	SNP	ENST00000398545.4	37	c.1025A>G	CCDS11940.2	.	.	.	.	.	.	.	.	.	.	T	18.85	3.712247	0.68730	.	.	ENSG00000172361	ENST00000398545	T	0.09538	2.97	5.57	5.57	0.84162	.	0.000000	0.64402	D	0.000001	T	0.28764	0.0713	M	0.63843	1.955	0.46113	D	0.998876	D	0.76494	0.999	D	0.71870	0.975	T	0.00773	-1.1572	10	0.42905	T	0.14	-1.5179	13.6629	0.62378	0.0:0.0:0.0:1.0	.	342	Q96M91	CCD11_HUMAN	C	342	ENSP00000381553:Y342C	ENSP00000381553:Y342C	Y	-	2	0	CCDC11	46023456	1.000000	0.71417	0.496000	0.27539	0.224000	0.24922	5.500000	0.66943	2.119000	0.64992	0.459000	0.35465	TAC		0.308	CCDC11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255922.3			6	32	0	0	0	1	0	6	32					C	47769458	T	C	47769458	3	2	286	1	0	0	0	0	1	0	0	0	2746	1638	57	4	531	4	CCDC11	18	47769458	Missense_Mutation	SNP	T	TCGA-J9-A52C-01A-11D-A26M-08	3220286	47769458	30307790	586	13716											
MBD1	4152	broad.mit.edu	37	chr18	47799780	47799780	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccactcgtcctgggtatccGccttctcttgcttcacctgg	3	14	8	16	2	2	0	1	0	1	0	7	0	5	0	5	2	1	2	5	2	1	4	rs555450900		TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr18:47799780G>A	ENST00000591416.1	-	13	1939	c.1508C>T	c.(1507-1509)gCg>gTg	p.A503V	MBD1_ENST00000269468.5_Missense_Mutation_p.A503V|MBD1_ENST00000349085.2_Intron|MBD1_ENST00000587605.1_Intron|MBD1_ENST00000436910.1_Intron|MBD1_ENST00000424334.2_Missense_Mutation_p.A554V|MBD1_ENST00000585672.1_Missense_Mutation_p.A453V|MBD1_ENST00000398495.2_Missense_Mutation_p.A472V|MBD1_ENST00000269471.5_Intron|MBD1_ENST00000590208.1_Missense_Mutation_p.A503V|MBD1_ENST00000398488.1_Intron|MBD1_ENST00000382948.5_Missense_Mutation_p.A503V|MBD1_ENST00000588937.1_Intron|MBD1_ENST00000398493.1_Missense_Mutation_p.A447V|MBD1_ENST00000591535.1_Intron|MBD1_ENST00000339998.6_Intron|MBD1_ENST00000585595.1_Missense_Mutation_p.A528V|MBD1_ENST00000457839.2_Missense_Mutation_p.A528V|MBD1_ENST00000353909.3_Missense_Mutation_p.A454V|MBD1_ENST00000347968.3_Missense_Mutation_p.A447V			Q9UIS9	MBD1_HUMAN	methyl-CpG binding domain protein 1	503					negative regulation of transcription, DNA-templated (GO:0045892)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	DNA binding (GO:0003677)|methyl-CpG binding (GO:0008327)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36						CTGGGTATCCGCCTTCTCTTG	0.602																																						ENST00000591416.1																			0				breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36						c.(1507-1509)gCg>gTg		methyl-CpG binding domain protein 1							130	102	111					18																	47799780		2203	4300	6503	SO:0001583	missense	4152				negative regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|nuclear speck	methyl-CpG binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding	g.chr18:47799780G>A	Y10746	CCDS11941.1, CCDS11942.1, CCDS11943.1, CCDS11944.1, CCDS32832.1, CCDS56071.1, CCDS56072.1, CCDS56073.1, CCDS59318.1, CCDS59319.1, CCDS59320.1	18q21	2014-02-18			ENSG00000141644	ENSG00000141644			6916	protein-coding gene	gene with protein product		156535				9207790, 10441743	Standard	NM_015844		Approved	PCM1, CXXC3	uc002lem.4	Q9UIS9	OTTHUMG00000132669	ENST00000591416.1:c.1508C>T	18.37:g.47799780G>A	ENSP00000467017:p.Ala503Val					MBD1_ENST00000457839.2_Missense_Mutation_p.A528V|MBD1_ENST00000436910.1_Intron|MBD1_ENST00000424334.2_Missense_Mutation_p.A554V|MBD1_ENST00000398488.1_Intron|MBD1_ENST00000398493.1_Missense_Mutation_p.A447V|MBD1_ENST00000398495.2_Missense_Mutation_p.A472V|MBD1_ENST00000382948.5_Missense_Mutation_p.A503V|MBD1_ENST00000353909.3_Missense_Mutation_p.A454V|MBD1_ENST00000349085.2_Intron|MBD1_ENST00000347968.3_Missense_Mutation_p.A447V|MBD1_ENST00000339998.6_Intron|MBD1_ENST00000269468.5_Missense_Mutation_p.A503V|MBD1_ENST00000269471.5_Intron|MBD1_ENST00000591535.1_Intron|MBD1_ENST00000587605.1_Intron|MBD1_ENST00000588937.1_Intron|MBD1_ENST00000585672.1_Missense_Mutation_p.A453V|MBD1_ENST00000590208.1_Missense_Mutation_p.A503V|MBD1_ENST00000585595.1_Missense_Mutation_p.A528V	p.A503V			Q9UIS9	MBD1_HUMAN			13	1939	-			503					A4UTZ0|B4DXJ5|E9PEC5|K7ELI2|K7EQZ4|K7ESN0|O15248|O95241|Q7Z7B5|Q8N4W4|Q9UNZ6|Q9UNZ7|Q9UNZ8|Q9UNZ9	Missense_Mutation	SNP	ENST00000591416.1	37	c.1508C>T	CCDS11943.1	.	.	.	.	.	.	.	.	.	.	G	10.41	1.343769	0.24339	.	.	ENSG00000141644	ENST00000382948;ENST00000353909;ENST00000269468;ENST00000347968;ENST00000424334;ENST00000398495;ENST00000457839;ENST00000398493	D;D;D;D;D;D;D	0.96830	-4.04;-4.05;-4.04;-4.14;-4.07;-4.04;-4.14	4.91	-0.44	0.12261	.	0.803409	0.11239	N	0.584811	D	0.91673	0.7368	L	0.32530	0.975	0.20638	N	0.999871	B;B;B;B;B	0.19200	0.009;0.034;0.024;0.027;0.024	B;B;B;B;B	0.19148	0.002;0.024;0.004;0.017;0.004	T	0.82448	-0.0452	10	0.40728	T	0.16	0.7783	8.2161	0.31511	0.4961:0.0:0.5039:0.0	.	554;454;503;447;528	B4DI41;Q9UIS9-5;Q9UIS9;Q9UIS9-7;B4DXJ5	.;.;MBD1_HUMAN;.;.	V	503;454;503;447;554;503;528;447	ENSP00000372407:A503V;ENSP00000269469:A454V;ENSP00000269468:A503V;ENSP00000285102:A447V;ENSP00000408846:A554V;ENSP00000405268:A528V;ENSP00000381506:A447V	ENSP00000269468:A503V	A	-	2	0	MBD1	46053778	0.165000	0.22948	0.107000	0.21349	0.979000	0.70002	0.021000	0.13489	-0.185000	0.10550	0.561000	0.74099	GCG		0.602	MBD1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000255926.3	NM_015846		11	50	0	0	0	1	0	11	50					A	47799780	G	A	47799780	3	1	286	1	0	0	0	0	1	0	0	0	9342	1087	38	1	519	1	MBD1	18	47799780	Missense_Mutation	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	30322	47799780	30277468	587	13717											
CXXC1	30827	broad.mit.edu	37	chr18	47808995	47808995	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actggagcgcaggtcggtagTgaggggatcgtgctggatcg	7	8	19	7	4	0	1	0	1	0	0	3	4	0	4	0	6	2	3	0	6	1	1			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr18:47808995T>C	ENST00000285106.6	-	15	2653	c.1939A>G	c.(1939-1941)Act>Gct	p.T647A	CXXC1_ENST00000412036.2_Missense_Mutation_p.T651A|MBD1_ENST00000591416.1_5'Flank|MBD1_ENST00000269468.5_5'Flank|MBD1_ENST00000349085.2_5'Flank|MBD1_ENST00000587605.1_5'Flank|MBD1_ENST00000436910.1_5'Flank|MBD1_ENST00000424334.2_5'Flank|MBD1_ENST00000585672.1_5'Flank|MBD1_ENST00000398495.2_5'Flank|MBD1_ENST00000269471.5_5'Flank|MBD1_ENST00000590208.1_5'Flank|CXXC1_ENST00000589940.1_3'UTR|MBD1_ENST00000398488.1_5'Flank|MBD1_ENST00000382948.5_5'Flank|MBD1_ENST00000588937.1_5'Flank|MBD1_ENST00000398493.1_5'Flank|MBD1_ENST00000591535.1_5'Flank|MBD1_ENST00000339998.6_5'Flank|MBD1_ENST00000585595.1_5'Flank|MBD1_ENST00000457839.2_5'Flank|MBD1_ENST00000353909.3_5'Flank|MBD1_ENST00000347968.3_5'Flank	NM_001101654.1|NM_014593.3	NP_001095124.1|NP_055408.2	Q9P0U4	CXXC1_HUMAN	CXXC finger protein 1	647					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|histone H3-K4 methylation (GO:0051568)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)	unmethylated CpG binding (GO:0045322)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	24						AGGTCGGTAGTGAGGGGATCG	0.662																																						ENST00000285106.6																			0				autonomic_ganglia(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	24						c.(1939-1941)Act>Gct		CXXC finger protein 1							122	112	115					18																	47808995		2203	4300	6503	SO:0001583	missense	30827				histone H3-K4 methylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck|Set1C/COMPASS complex	protein binding|unmethylated CpG binding|zinc ion binding	g.chr18:47808995T>C	BC014940	CCDS11945.1, CCDS45866.1	18q12	2014-02-20	2014-02-20		ENSG00000154832	ENSG00000154832		"Zinc fingers, PHD-type"	24343	protein-coding gene	gene with protein product	"CpG binding protein", "DNA-binding protein with PHD finger and CXXC domain", "zinc finger, CpG binding-type containing 1"	609150	"CXXC finger 1 (PHD domain)"			10799292, 10688657	Standard	NM_014593		Approved	HsT2645, PCCX1, hCGBP, PHF18, CGBP, SPP1, CFP1, ZCGPC1	uc002ler.4	Q9P0U4	OTTHUMG00000132670	ENST00000285106.6:c.1939A>G	18.37:g.47808995T>C	ENSP00000285106:p.Thr647Ala					CXXC1_ENST00000412036.2_Missense_Mutation_p.T651A|CXXC1_ENST00000589940.1_3'UTR	p.T647A	NM_001101654.1|NM_014593.3	NP_001095124.1|NP_055408.2	Q9P0U4	CXXC1_HUMAN			15	2653	-			647					B2RC03|Q8N2W4|Q96BC8|Q9P2V7	Missense_Mutation	SNP	ENST00000285106.6	37	c.1939A>G	CCDS11945.1	.	.	.	.	.	.	.	.	.	.	T	23.0	4.357388	0.82243	.	.	ENSG00000154832	ENST00000285106;ENST00000412036	T;T	0.23754	1.89;1.89	4.51	4.51	0.55191	.	0.000000	0.85682	D	0.000000	T	0.40145	0.1105	L	0.44542	1.39	0.80722	D	1	D;D;D	0.71674	0.998;0.997;0.997	D;D;D	0.75020	0.959;0.911;0.985	T	0.11991	-1.0565	10	0.41790	T	0.15	-17.7658	12.0834	0.53684	0.0:0.0:0.0:1.0	.	651;647;514	Q9P0U4-2;Q9P0U4;Q59EC8	.;CXXC1_HUMAN;.	A	647;651	ENSP00000285106:T647A;ENSP00000390475:T651A	ENSP00000285106:T647A	T	-	1	0	CXXC1	46062993	1.000000	0.71417	0.985000	0.45067	0.961000	0.63080	6.019000	0.70818	1.797000	0.52628	0.472000	0.43445	ACT		0.662	CXXC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000255927.2	NM_014593		17	103	0	0	0	1	0	17	103					C	47808995	T	C	47808995	3	2	286	1	0	0	0	0	1	0	0	0	4097	1696	59	4	35	4	CXXC1	18	47808995	Missense_Mutation	SNP	T	TCGA-J9-A52C-01A-11D-A26M-08	9215	47808995	30268253	588	13718											
DCC	1630	broad.mit.edu	37	chr18	50994313	50994313	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atgtccactctggagaggtcGctggctgcacgccgagcccc	6	7	13	15	3	1	1	0	0	1	1	3	3	2	1	4	3	2	3	4	3	0	0	rs200234919	byFrequency	TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr18:50994313G>A	ENST00000442544.2	+	25	4285	c.3669G>A	c.(3667-3669)tcG>tcA	p.S1223S	DCC_ENST00000581580.1_Silent_p.S858S	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	DCC netrin 1 receptor	1223					anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|axonogenesis (GO:0007409)|dorsal/ventral axon guidance (GO:0033563)|negative regulation of collateral sprouting (GO:0048671)|negative regulation of dendrite development (GO:2000171)|negative regulation of neuron projection development (GO:0010977)|neuron migration (GO:0001764)|positive regulation of apoptotic process (GO:0043065)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron projection development (GO:0010976)|regulation of apoptotic process (GO:0042981)|response to amphetamine (GO:0001975)|spinal cord ventral commissure morphogenesis (GO:0021965)	axon (GO:0030424)|cytosol (GO:0005829)|growth cone membrane (GO:0032584)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	netrin receptor activity (GO:0005042)|transcription coactivator activity (GO:0003713)|transmembrane signaling receptor activity (GO:0004888)			NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		TGGAGAGGTCGCTGGCTGCAC	0.522													g|||	3	0.000599042	0	0	5008	,	,		14563	0		0.003	False		,,,				2504	0					ENST00000442544.2																			0				NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148						c.(3667-3669)tcG>tcA		deleted in colorectal carcinoma							103	97	99					18																	50994313		2203	4300	6503	SO:0001819	synonymous_variant	1630				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane		g.chr18:50994313G>A	X76132	CCDS11952.1	18q21.1	2014-06-20	2014-06-20		ENSG00000187323	ENSG00000187323		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	2701	protein-coding gene	gene with protein product	"immunoglobulin superfamily, DCC subclass, member 1"	120470	"deleted in colorectal carcinoma"			2294591, 24400119	Standard	NM_005215		Approved	IGDCC1, NTN1R1	uc002lfe.2	P43146	OTTHUMG00000132698	ENST00000442544.2:c.3669G>A	18.37:g.50994313G>A						DCC_ENST00000581580.1_Silent_p.S858S	p.S1223S	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)	25	4285	+		all_cancers(7;0.11)|all_epithelial(6;0.00126)	1223						Silent	SNP	ENST00000442544.2	37	c.3669G>A	CCDS11952.1																																																																																				0.522	DCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255996.3	NM_005215		16	61	0	0	0	1	0	16	61					A	50994313	G	A	50994313	2	1	286	1	0	0	0	0	0	0	0	1	4282	1074	38	1		1	DCC	18	50994313	Silent	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	3185318	50994313	27082935	589	13719											
DCC	1630	broad.mit.edu	37	chr18	51013172	51013172	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttttcttttgcagctgtcGtgagcgccatcccggtgcca	4	14	10	13	3	1	1	0	1	1	0	3	1	2	1	3	1	4	2	3	1	0	4	rs201242417		TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr18:51013172G>A	ENST00000442544.2	+	26	4358	c.3742G>A	c.(3742-3744)Gtg>Atg	p.V1248M	DCC_ENST00000581580.1_Missense_Mutation_p.V883M|RP11-671P2.1_ENST00000582064.1_RNA	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	DCC netrin 1 receptor	1248					anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|axonogenesis (GO:0007409)|dorsal/ventral axon guidance (GO:0033563)|negative regulation of collateral sprouting (GO:0048671)|negative regulation of dendrite development (GO:2000171)|negative regulation of neuron projection development (GO:0010977)|neuron migration (GO:0001764)|positive regulation of apoptotic process (GO:0043065)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron projection development (GO:0010976)|regulation of apoptotic process (GO:0042981)|response to amphetamine (GO:0001975)|spinal cord ventral commissure morphogenesis (GO:0021965)	axon (GO:0030424)|cytosol (GO:0005829)|growth cone membrane (GO:0032584)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	netrin receptor activity (GO:0005042)|transcription coactivator activity (GO:0003713)|transmembrane signaling receptor activity (GO:0004888)	p.V1248M(1)		NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		TGCAGCTGTCGTGAGCGCCAT	0.488																																						ENST00000442544.2																			1	Substitution - Missense(1)	p.V1248M(1)	urinary_tract(1)	NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148						c.(3742-3744)Gtg>Atg		deleted in colorectal carcinoma							96	88	90					18																	51013172		2203	4300	6503	SO:0001583	missense	1630				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane		g.chr18:51013172G>A	X76132	CCDS11952.1	18q21.1	2014-06-20	2014-06-20		ENSG00000187323	ENSG00000187323		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	2701	protein-coding gene	gene with protein product	"immunoglobulin superfamily, DCC subclass, member 1"	120470	"deleted in colorectal carcinoma"			2294591, 24400119	Standard	NM_005215		Approved	IGDCC1, NTN1R1	uc002lfe.2	P43146	OTTHUMG00000132698	ENST00000442544.2:c.3742G>A	18.37:g.51013172G>A	ENSP00000389140:p.Val1248Met					DCC_ENST00000581580.1_Missense_Mutation_p.V883M|RP11-671P2.1_ENST00000582064.1_RNA	p.V1248M	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)	26	4358	+		all_cancers(7;0.11)|all_epithelial(6;0.00126)	1248						Missense_Mutation	SNP	ENST00000442544.2	37	c.3742G>A	CCDS11952.1	.	.	.	.	.	.	.	.	.	.	G	11.97	1.797157	0.31777	.	.	ENSG00000187323	ENST00000442544	T	0.52526	0.66	5.34	5.34	0.76211	Neogenin, C-terminal (1);	0.000000	0.64402	D	0.000014	T	0.65626	0.2709	L	0.56769	1.78	0.54753	D	0.999983	D	0.76494	0.999	D	0.75484	0.986	T	0.63242	-0.6681	10	0.39692	T	0.17	-6.2316	17.8261	0.88666	0.0:0.0:1.0:0.0	.	1248	P43146	DCC_HUMAN	M	1248	ENSP00000389140:V1248M	ENSP00000389140:V1248M	V	+	1	0	DCC	49267170	1.000000	0.71417	0.962000	0.40283	0.522000	0.34438	8.174000	0.89682	2.499000	0.84300	0.462000	0.41574	GTG		0.488	DCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255996.3	NM_005215		15	55	0	0	0	1	0	15	55					A	51013172	G	A	51013172	3	1	286	1	0	0	0	0	1	0	0	0	4282	1145	40	1	3844	1	DCC	18	51013172	Missense_Mutation	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	18859	51013172	27064076	590	13720											
ATP8B1	5205	broad.mit.edu	37	chr18	55315748	55315748	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccccggtgcgcctgtactccGcggtgccatccgccacgatg	4	7	12	18	6	0	0	0	0	0	0	2	1	2	0	7	2	3	1	7	2	1	1			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr18:55315748G>A	ENST00000283684.4	-	27	3727	c.3728C>T	c.(3727-3729)gCg>gTg	p.A1243V	RP11-35G9.3_ENST00000599199.1_RNA|RP11-35G9.3_ENST00000592201.1_RNA|RP11-35G9.3_ENST00000591854.1_RNA|RP11-35G9.5_ENST00000588925.1_RNA|ATP8B1_ENST00000536015.1_Missense_Mutation_p.A1243V			O43520	AT8B1_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 1	1243					bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|drug transmembrane transport (GO:0006855)|inner ear receptor cell development (GO:0060119)|ion transmembrane transport (GO:0034220)|negative regulation of transcription, DNA-templated (GO:0045892)|phospholipid translocation (GO:0045332)|regulation of microvillus assembly (GO:0032534)|sensory perception of sound (GO:0007605)|transmembrane transport (GO:0055085)|vestibulocochlear nerve formation (GO:0021650)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)	ATP binding (GO:0005524)|cardiolipin binding (GO:1901612)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			breast(6)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(19)|ovary(3)|prostate(1)	53		Colorectal(73;0.229)				CCTGTACTCCGCGGTGCCATC	0.617																																						ENST00000536015.1																			0				breast(6)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(19)|ovary(3)|prostate(1)	53						c.(3727-3729)gCg>gTg		ATPase, aminophospholipid transporter, class I, type 8B, member 1							28	30	30					18																	55315748		2198	4289	6487	SO:0001583	missense	5205				ATP biosynthetic process|bile acid and bile salt transport|negative regulation of transcription, DNA-dependent	apical plasma membrane|integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr18:55315748G>A	AF038007	CCDS11965.1	18q21	2010-04-28	2010-04-28		ENSG00000081923	ENSG00000081923		"ATPases / P-type"	3706	protein-coding gene	gene with protein product		602397	"ATPase, Class I, type 8B, member 1", "ATPase, class I, type 8B, member 1"	FIC1, BRIC, PFIC1		9500542, 7655458	Standard	NM_005603		Approved	ATPIC, PFIC	uc002lgw.3	O43520	OTTHUMG00000132739	ENST00000283684.4:c.3728C>T	18.37:g.55315748G>A	ENSP00000283684:p.Ala1243Val					ATP8B1_ENST00000283684.4_Missense_Mutation_p.A1243V|RP11-35G9.3_ENST00000591854.1_RNA|RP11-35G9.3_ENST00000592201.1_RNA|RP11-35G9.3_ENST00000599199.1_RNA|RP11-35G9.5_ENST00000588925.1_RNA	p.A1243V	NM_005603.4	NP_005594.1	O43520	AT8B1_HUMAN			28	3847	-		Colorectal(73;0.229)	1243					Q9BTP8	Missense_Mutation	SNP	ENST00000283684.4	37	c.3728C>T	CCDS11965.1	.	.	.	.	.	.	.	.	.	.	G	15.00	2.702679	0.48307	.	.	ENSG00000081923	ENST00000283684;ENST00000536015	T;T	0.29142	1.58;1.58	5.38	5.38	0.77491	.	0.468521	0.23157	N	0.051295	T	0.35278	0.0926	L	0.51422	1.61	0.36696	D	0.879851	D	0.63046	0.992	P	0.45712	0.491	T	0.37641	-0.9697	10	0.41790	T	0.15	.	16.9038	0.86120	0.0:0.0:1.0:0.0	.	1243	O43520	AT8B1_HUMAN	V	1243	ENSP00000283684:A1243V;ENSP00000445359:A1243V	ENSP00000283684:A1243V	A	-	2	0	ATP8B1	53466746	1.000000	0.71417	0.094000	0.20943	0.266000	0.26442	3.924000	0.56476	2.515000	0.84797	0.491000	0.48974	GCG		0.617	ATP8B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256097.1	NM_005603		13	47	0	0	0	1	0	13	47					A	55315748	G	A	55315748	3	1	286	1	0	0	0	0	1	0	0	0	1194	1087	38	1	31	1	ATP8B1	18	55315748	Missense_Mutation	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	4302576	55315748	22761500	591	13721											
ALPK2	115701	broad.mit.edu	37	chr18	56246941	56246941	+	Frame_Shift_Del	DEL	A	A	-																															cttcgtcatcgctttctaatAaaaaaacatgctcagtcccc																										TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr18:56246941delA	ENST00000361673.3	-	4	1280	c.1067delT	c.(1066-1068)ttafs	p.L357fs	ALPK2_ENST00000587399.1_5'Flank	NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	357						nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						GCTTTCTAATAAAAAAACATG	0.478											OREG0025011	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000361673.3																			0				NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						c.(1066-1068)tafs		alpha-kinase 2							94	93	94					18																	56246941		2203	4300	6503	SO:0001589	frameshift_variant	115701						ATP binding|protein serine/threonine kinase activity	g.chr18:56246941delA	AY044450	CCDS11966.2	18q21.31	2013-01-11			ENSG00000198796	ENSG00000198796		"Immunoglobulin superfamily / I-set domain containing"	20565	protein-coding gene	gene with protein product	"heart alpha-kinase"					10021370	Standard	NM_052947		Approved	HAK	uc002lhj.4	Q86TB3	OTTHUMG00000132755	ENST00000361673.3:c.1067delT	18.37:g.56246941delA	ENSP00000354991:p.Leu357fs		OREG0025011	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1014		p.L357fs	NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN			4	1280	-			357					Q6ZUX0|Q8NAT5|Q96L95	Frame_Shift_Del	DEL	ENST00000361673.3	37	c.1067delT	CCDS11966.2																																																																																				0.478	ALPK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256126.1	NM_052947		16	56						16	56	---	---	---	---	-	56246941	A	-	56246941	7	5	286	1	0	1	0	1	0	0	0	0	545	372	13	0	5485	0	ALPK2	18	56246941	Frame_Shift_Del	DEL	A	TCGA-J9-A52C-01A-11D-A26M-08	931193	56246941	21830307	592	13722											
SERPINB4	6318	broad.mit.edu	37	chr18	61305232	61305232	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	accattcccatggttctcaaCgtgtccttgaggtcatagct	8	13	8	12	1	2	1	2	1	1	0	5	1	4	1	3	2	2	2	3	2	2	4			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr18:61305232C>T	ENST00000341074.5	-	8	1009	c.894G>A	c.(892-894)acG>acA	p.T298T	SERPINB4_ENST00000356424.6_Silent_p.T246T	NM_002974.2	NP_002965.1	P48594	SPB4_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 4	298					negative regulation of endopeptidase activity (GO:0010951)|negative regulation of peptidase activity (GO:0010466)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	enzyme binding (GO:0019899)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	42						TGGTTCTCAACGTGTCCTTGA	0.453																																						ENST00000341074.5																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	42						c.(892-894)acG>acA		serpin peptidase inhibitor, clade B (ovalbumin), member 4							185	160	168					18																	61305232		2203	4300	6503	SO:0001819	synonymous_variant	6318							g.chr18:61305232C>T	X89015	CCDS11986.1	18q21.33	2014-02-18	2005-08-18		ENSG00000206073	ENSG00000206073		"Serine (or cysteine) peptidase inhibitors"	10570	protein-coding gene	gene with protein product	"squamous cell carcinoma antigen 2"	600518	"serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 4"	SCCA2		7724531, 14630915, 24172014	Standard	NM_175041		Approved	PI11, LEUPIN, SCCA-2, SCCA1		P48594	OTTHUMG00000060405	ENST00000341074.5:c.894G>A	18.37:g.61305232C>T						SERPINB4_ENST00000356424.6_Silent_p.T246T	p.T298T	NM_002974.2	NP_002965.1					8	1009	-								A8K847	Silent	SNP	ENST00000341074.5	37	c.894G>A	CCDS11986.1	.	.	.	.	.	.	.	.	.	.	C	5.939	0.357213	0.11239	.	.	ENSG00000206073	ENST00000413673	.	.	.	4.51	-9.03	0.00737	.	.	.	.	.	T	0.16514	0.0397	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.14699	-1.0463	4	.	.	.	.	3.1776	0.06573	0.1342:0.1224:0.239:0.5045	.	.	.	.	H	279	.	.	R	-	2	0	SERPINB4	59456212	0.000000	0.05858	0.000000	0.03702	0.222000	0.24845	-4.287000	0.00259	-2.264000	0.00689	-0.192000	0.12808	CGT		0.453	SERPINB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133794.2	NM_175041		7	56	0	0	0	1	0	7	56					T	61305232	C	T	61305232	2	4	286	1	0	0	0	0	0	0	0	1	14103	523	19	1		1	SERPINB4	18	61305232	Silent	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	5058291	61305232	16772016	593	13723											
ZNF516	9658	broad.mit.edu	37	chr18	74091250	74091250	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctattggccgagggctgcgcGccagcccgggcgatgacggt	5	6	17	13	6	0	1	0	1	0	0	0	3	0	1	3	4	2	1	3	4	1	2			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr18:74091250G>A	ENST00000443185.2	-	4	3137	c.2820C>T	c.(2818-2820)ggC>ggT	p.G940G	RP11-504I13.3_ENST00000583287.1_RNA|ZNF516_ENST00000524431.2_5'UTR	NM_014643.3	NP_055458.1	Q92618	ZN516_HUMAN	zinc finger protein 516	940					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Prostate(75;0.0869)|Esophageal squamous(42;0.129)		OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238)		AGGGCTGCGCGCCAGCCCGGG	0.701																																						ENST00000443185.2																			0				central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32						c.(2818-2820)ggC>ggT		zinc finger protein 516							16	21	19					18																	74091250		1767	3879	5646	SO:0001819	synonymous_variant	9658				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr18:74091250G>A	D86975	CCDS74234.1	18q23	2013-01-08				ENSG00000101493		"Zinc fingers, C2H2-type"	28990	protein-coding gene	gene with protein product		615114				9039502	Standard	NM_014643		Approved	HsT287, KIAA0222	uc021ulp.1	Q92618		ENST00000443185.2:c.2820C>T	18.37:g.74091250G>A						ZNF516_ENST00000524431.2_5'UTR	p.G940G	NM_014643.3	NP_055458.1	Q92618	ZN516_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238)	4	3137	-		Prostate(75;0.0869)|Esophageal squamous(42;0.129)	940						Silent	SNP	ENST00000443185.2	37	c.2820C>T																																																																																					0.701	ZNF516-201	KNOWN	basic|appris_principal|exp_conf	protein_coding	protein_coding		NM_014643		7	33	0	0	0	1	0	7	33					A	74091250	G	A	74091250	2	1	286	1	0	0	0	0	0	0	0	1	17957	1074	38	1		1	ZNF516	18	74091250	Silent	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	12786018	74091250	3985998	594	13724											
SALL3	27164	broad.mit.edu	37	chr18	76755234	76755234	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcgagggtcccccgctgccCgcgggcgtccaggtccccgc	2	4	16	19	6	0	0	0	0	0	0	3	1	3	0	6	4	1	1	6	4	0	0			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr18:76755234C>T	ENST00000537592.2	+	2	3243	c.3243C>T	c.(3241-3243)ccC>ccT	p.P1081P	SALL3_ENST00000575389.2_Silent_p.P1009P|SALL3_ENST00000536229.3_Silent_p.P876P	NM_171999.3	NP_741996.2	Q9BXA9	SALL3_HUMAN	spalt-like transcription factor 3	1081					forelimb morphogenesis (GO:0035136)|hindlimb morphogenesis (GO:0035137)|negative regulation of smoothened signaling pathway (GO:0045879)|olfactory bulb interneuron development (GO:0021891)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)		CCCCGCTGCCCGCGGGCGTCC	0.711																																						ENST00000536229.3																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	74						c.(2626-2628)ccC>ccT		spalt-like transcription factor 3							20	21	21					18																	76755234		2192	4295	6487	SO:0001819	synonymous_variant	27164				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr18:76755234C>T	AJ007421	CCDS12013.1	18q23	2013-10-17	2013-10-17		ENSG00000256463	ENSG00000256463		"Zinc fingers, C2H2-type"	10527	protein-coding gene	gene with protein product		605079	"sal (Drosophila)-like 3", "sal-like 3 (Drosophila)"			10610715	Standard	NM_171999		Approved	ZNF796	uc002lmt.3	Q9BXA9	OTTHUMG00000132896	ENST00000537592.2:c.3243C>T	18.37:g.76755234C>T						SALL3_ENST00000575389.2_Silent_p.P1009P|SALL3_ENST00000537592.2_Silent_p.P1081P	p.P876P			Q9BXA9	SALL3_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)	2	3337	+		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)	1081					Q9UGH1	Silent	SNP	ENST00000537592.2	37	c.2628C>T	CCDS12013.1																																																																																				0.711	SALL3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256397.1	NM_171999		6	20	0	0	0	1	0	6	20					T	76755234	C	T	76755234	2	4	286	1	0	0	0	0	0	0	0	1	13812	639	23	2		2	SALL3	18	76755234	Silent	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	2663984	76755234	1322014	595	13725											
GRIN3B	116444	broad.mit.edu	37	chr19	1005552	1005552	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcggggatccacgaccccaaGgtgggcggcctcggggggct	5	5	18	13	4	0	0	0	0	0	0	3	2	1	1	4	8	0	1	4	8	1	0			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr19:1005552G>A	ENST00000234389.3	+	3	2071	c.2052G>A	c.(2050-2052)aaG>aaA	p.K684K	AC004528.4_ENST00000588380.1_RNA	NM_138690.1	NP_619635.1	O60391	NMD3B_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3B	684					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|protein insertion into membrane (GO:0051205)|regulation of calcium ion transport (GO:0051924)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)	calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|neurotransmitter binding (GO:0042165)|neurotransmitter receptor activity (GO:0030594)			breast(1)|kidney(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	11		Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;0.000226)|all_lung(49;0.000353)|Breast(49;0.00066)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	Acamprosate(DB00659)|Atomoxetine(DB00289)|Gabapentin(DB00996)|Glycine(DB00145)|Halothane(DB01159)|Ketobemidone(DB06738)|Milnacipran(DB04896)|Orphenadrine(DB01173)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Secobarbital(DB00418)	ACGACCCCAAGGTGGGCGGCC	0.701																																						ENST00000234389.3																			0				breast(1)|kidney(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	11						c.e3+1		glutamate receptor, ionotropic, N-methyl-D-aspartate 3B	Glycine(DB00145)|L-Glutamic Acid(DB00142)|Orphenadrine(DB01173)						11	12	11					19																	1005552		2181	4272	6453	SO:0001630	splice_region_variant	116444				ionotropic glutamate receptor signaling pathway|protein insertion into membrane|regulation of calcium ion transport	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|glycine binding|ionotropic glutamate receptor activity|neurotransmitter receptor activity	g.chr19:1005552G>A		CCDS32861.1	19p13.3	2014-05-06			ENSG00000116032	ENSG00000116032		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	16768	protein-coding gene	gene with protein product		606651					Standard	XM_003403700		Approved	GluN3B	uc002lqo.1	O60391	OTTHUMG00000181904	ENST00000234389.3:c.2052+1G>A	19.37:g.1005552G>A							p.K684_splice	NM_138690.1	NP_619635.1	O60391	NMD3B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	3	2071	+		Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;0.000226)|all_lung(49;0.000353)|Breast(49;0.00066)	684					Q5EAK7|Q7RTW9	Splice_Site	SNP	ENST00000234389.3	37	c.2052_splice	CCDS32861.1																																																																																				0.701	GRIN3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103923.2		Silent	5	17	0	0	0	1	0	5	17					A	1005552	G	A	1005552	5	1	286	1	0	0	0	0	0	0	1	0	6784	1014	35	3	2062	3	GRIN3B	19	1005552	Splice_Site	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08		1005552	58123431	596	13726											
C19orf26	255057	broad.mit.edu	37	chr19	1234615	1234615	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagaggtggccgggtggggCgtggtggctgagctggcctc	3	7	23	8	2	0	2	0	1	0	1	1	3	0	2	2	9	1	2	2	9	0	0			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr19:1234615C>T	ENST00000382477.2	-	6	916	c.642G>A	c.(640-642)acG>acA	p.T214T	C19orf26_ENST00000215376.6_Silent_p.T188T|C19orf26_ENST00000590083.1_Silent_p.T194T			Q8N350	DOS_HUMAN	chromosome 19 open reading frame 26	214						integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	9		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCGGGTGGGGCGTGGTGGCTG	0.682										HNSCC(14;0.022)																												ENST00000590083.1																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	9						c.(580-582)acG>acA		chromosome 19 open reading frame 26							66	55	59					19																	1234615		2195	4294	6489	SO:0001819	synonymous_variant	255057					integral to membrane		g.chr19:1234615C>T	BC028156	CCDS12057.1, CCDS12057.2	19p13.3	2012-10-24			ENSG00000099625	ENSG00000099625			28617	protein-coding gene	gene with protein product	"downstream of STK11"					12477932	Standard	NM_152769		Approved	MGC40084, DOS	uc002lrm.3	Q8N350	OTTHUMG00000180141	ENST00000382477.2:c.642G>A	19.37:g.1234615C>T		HNSCC(14;0.022)				C19orf26_ENST00000215376.6_Silent_p.T188T|C19orf26_ENST00000382477.2_Silent_p.T214T	p.T194T			Q8N350	DOS_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	6	874	-		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)	214					O43385	Silent	SNP	ENST00000382477.2	37	c.582G>A																																																																																					0.682	C19orf26-202	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_152769		4	10	0	0	0	1	0	4	10					T	1234615	C	T	1234615	2	4	286	1	0	0	0	0	0	0	0	1	1916	755	27	1		1	C19orf26	19	1234615	Silent	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	229063	1234615	57894368	597	13727											
FAM108A1	81926	broad.mit.edu	37	chr19	1880951	1880951	+	Intron	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcccctgtgccccagctcttGcccagcaggcaaccaccagg	7	5	10	19	0	1	0	0	0	1	0	1	0	1	0	7	2	5	3	7	2	1	1			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr19:1880951G>A	ENST00000292577.7	-	2	766				ABHD17A_ENST00000590661.1_Intron|ABHD17A_ENST00000250974.9_Silent_p.G143G	NM_001130111.1	NP_001123583.1	Q96GS6	AB17A_HUMAN	abhydrolase domain containing 17A							extracellular region (GO:0005576)|membrane (GO:0016020)	hydrolase activity (GO:0016787)										CCCAGCTCTTGCCCAGCAGGC	0.662																																						ENST00000250974.9																			0											c.(427-429)ggC>ggT		abhydrolase domain containing 17A							31	37	35					19																	1880951		2201	4299	6500	SO:0001627	intron_variant	81926							g.chr19:1880951G>A	BC020512	CCDS32867.1, CCDS45902.1	19p13.3	2013-03-15	2013-03-15	2013-03-15	ENSG00000129968	ENSG00000129968		"Abhydrolase domain containing"	28756	protein-coding gene	gene with protein product			"chromosome 19 open reading frame 27", "family with sequence similarity 108, member A1"	C19orf27, FAM108A1		14702039	Standard	NM_031213		Approved	MGC5244	uc002lug.3	Q96GS6	OTTHUMG00000171872	ENST00000292577.7:c.332+282C>T	19.37:g.1880951G>A						ABHD17A_ENST00000292577.7_Intron|ABHD17A_ENST00000590661.1_Intron	p.G143G	NM_031213.3	NP_112490.3					3	748	-								A8K0G8|D6W5Z9|Q6PJU2|Q8WUH9|Q9BWL0|Q9H7Q9	Silent	SNP	ENST00000292577.7	37	c.429C>T	CCDS45902.1																																																																																				0.662	ABHD17A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415556.2	NM_031213		5	35	0	0	0	1	0	5	35					A	1880951	G	A	1880951	1	1	286	0	1	0	0	0	0	0	0	0	5391	1306	46	3		3	FAM108A1	19	1880951	Intron	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	646336	1880951	57248032	598	13728											
DOT1L	84444	broad.mit.edu	37	chr19	2226857	2226857	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcggccccggcctggcccCggcggcgtcctccgcaggcg	2	3	16	20	7	0	0	0	0	0	0	2	0	2	0	7	6	1	1	7	6	0	0			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr19:2226857C>T	ENST00000398665.3	+	27	4373	c.4337C>T	c.(4336-4338)cCg>cTg	p.P1446L		NM_032482.2	NP_115871.1	Q8TEK3	DOT1L_HUMAN	DOT1-like histone H3K79 methyltransferase	1446					histone lysine methylation (GO:0034968)|regulation of JAK-STAT cascade (GO:0046425)|regulation of transcription regulatory region DNA binding (GO:2000677)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription factor binding (GO:0008134)			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(9)	42		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGCCTGGCCCCGGCGGCGTCC	0.756																																						ENST00000398665.3																			0				NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(9)	42						c.(4336-4338)cCg>cTg		DOT1-like histone H3K79 methyltransferase																																				SO:0001583	missense	84444					nucleus	DNA binding|histone-lysine N-methyltransferase activity|protein binding	g.chr19:2226857C>T	AF509504	CCDS42460.1	19p13.3	2013-05-21	2013-05-21		ENSG00000104885	ENSG00000104885	2.1.1.43	"Chromatin-modifying enzymes / K-methyltransferases"	24948	protein-coding gene	gene with protein product	"histone methyltransferase DOT1L"	607375	"DOT1-like, histone H3 methyltransferase (S. cerevisiae)"			11347906, 12123582	Standard	NM_032482		Approved	KIAA1814, DOT1, KMT4	uc002lvb.4	Q8TEK3	OTTHUMG00000150431	ENST00000398665.3:c.4337C>T	19.37:g.2226857C>T	ENSP00000381657:p.Pro1446Leu						p.P1446L	NM_032482.2	NP_115871.1	Q8TEK3	DOT1L_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	27	4373	+		Hepatocellular(1079;0.137)	1446					O60379|Q96JL1	Missense_Mutation	SNP	ENST00000398665.3	37	c.4337C>T	CCDS42460.1	.	.	.	.	.	.	.	.	.	.	C	10.69	1.420306	0.25552	.	.	ENSG00000104885	ENST00000398665;ENST00000221482;ENST00000457590	T;T	0.30714	1.93;1.52	4.42	3.32	0.38043	.	0.428856	0.19142	N	0.121676	T	0.19725	0.0474	L	0.36672	1.1	0.09310	N	1	B;P	0.35700	0.273;0.516	B;B	0.25759	0.013;0.063	T	0.21586	-1.0241	10	0.87932	D	0	-6.1864	8.7943	0.34870	0.1684:0.6686:0.163:0.0	.	1446;1446	Q8TEK3;Q8TEK3-2	DOT1L_HUMAN;.	L	1446;1446;326	ENSP00000381657:P1446L;ENSP00000407411:P326L	ENSP00000221482:P1446L	P	+	2	0	DOT1L	2177857	0.005000	0.15991	0.008000	0.14137	0.134000	0.20937	1.875000	0.39578	2.003000	0.58678	0.561000	0.74099	CCG		0.756	DOT1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318066.1	NM_032482		6	34	0	0	0	1	0	6	34					T	2226857	C	T	2226857	3	4	286	1	0	0	0	0	1	0	0	0	4709	652	23	2	4443	2	DOT1L	19	2226857	Missense_Mutation	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	345906	2226857	56902126	599	13729											
TJP3	27134	broad.mit.edu	37	chr19	3728407	3728407	+	Intron	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcctcatgcccatcttccccGctcccctcgaccaggtggct	4	9	8	20	2	2	0	1	0	1	0	5	1	4	0	7	2	1	2	7	2	0	1			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr19:3728407G>A	ENST00000541714.2	+	2	453				TJP3_ENST00000262968.9_Missense_Mutation_p.A12T|TJP3_ENST00000539908.2_Intron|TJP3_ENST00000587686.1_Missense_Mutation_p.A12T|TJP3_ENST00000589378.1_Intron|TJP3_ENST00000382008.3_Intron	NM_001267560.1	NP_001254489.1	O95049	ZO3_HUMAN	tight junction protein 3						regulation of G1/S transition of mitotic cell cycle (GO:2000045)	apical plasma membrane (GO:0016324)|nucleus (GO:0005634)|tight junction (GO:0005923)		p.A12T(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	26				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0118)|STAD - Stomach adenocarcinoma(1328;0.18)		CATCTTCCCCGCTCCCCTCGA	0.632																																						ENST00000587686.1																			1	Substitution - Missense(1)	p.A12T(1)	endometrium(1)	breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	26						c.(34-36)Gct>Act		tight junction protein 3							62	48	53					19																	3728407		2203	4300	6503	SO:0001627	intron_variant	27134					tight junction	protein binding	g.chr19:3728407G>A	AC005954	CCDS32873.1, CCDS32873.2, CCDS59332.1	19p13.3	2012-07-12	2012-07-12			ENSG00000105289			11829	protein-coding gene	gene with protein product	"zona occludens 3"	612689					Standard	NM_001267560		Approved	ZO-3	uc010xhu.3	O95049		ENST00000541714.2:c.-9-15G>A	19.37:g.3728407G>A						TJP3_ENST00000589378.1_Intron|TJP3_ENST00000382008.3_Intron|TJP3_ENST00000262968.9_Missense_Mutation_p.A12T|TJP3_ENST00000541714.2_Intron|TJP3_ENST00000539908.2_Intron	p.A12T			O95049	ZO3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0118)|STAD - Stomach adenocarcinoma(1328;0.18)	1	34	+			0			PDZ 1.		A6NFP3|B3KR73|B3KXZ0|B4E2W6|F5H2X0|F5H4S9|K7EK22|Q32N01	Missense_Mutation	SNP	ENST00000541714.2	37	c.34G>A	CCDS32873.2	.	.	.	.	.	.	.	.	.	.	G	5.465	0.270922	0.10349	.	.	ENSG00000105289	ENST00000262968	T	0.16743	2.32	3.81	-2.4	0.06583	.	4.904360	0.00687	N	0.000700	T	0.08670	0.0215	.	.	.	0.09310	N	1	B;B	0.24426	0.103;0.103	B;B	0.14578	0.011;0.011	T	0.21484	-1.0244	9	0.15499	T	0.54	.	5.9447	0.19211	0.0:0.2834:0.348:0.3686	.	12;12	O95049-3;O95049-2	.;.	T	12	ENSP00000262968:A12T	ENSP00000262968:A12T	A	+	1	0	TJP3	3679407	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	0.094000	0.15107	-0.118000	0.11851	-0.538000	0.04264	GCT		0.632	TJP3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000453434.1			8	20	0	0	0	1	0	8	20					A	3728407	G	A	3728407	1	1	286	0	1	0	0	0	0	0	0	0	15928	1087	38	1		1	TJP3	19	3728407	Intron	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	1501550	3728407	55400576	600	13730											
PTPRS	5802	broad.mit.edu	37	chr19	5274309	5274309	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acgaaagaggccacacccccCgacacgccgatctggtcctt	10	5	9	17	4	1	1	0	0	1	1	2	4	2	1	6	2	0	0	6	2	1	1	rs140383630	byFrequency	TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr19:5274309C>T	ENST00000587303.1	-	2	237	c.138G>A	c.(136-138)tcG>tcA	p.S46S	PTPRS_ENST00000590509.1_Silent_p.S46S|PTPRS_ENST00000372412.4_Silent_p.S46S|PTPRS_ENST00000348075.2_Silent_p.S46S|PTPRS_ENST00000353284.2_Silent_p.S46S|PTPRS_ENST00000357368.4_Silent_p.S46S|PTPRS_ENST00000588552.1_5'UTR|PTPRS_ENST00000262963.6_Silent_p.S46S|PTPRS_ENST00000588012.1_Silent_p.S46S|PTPRS_ENST00000592099.1_Silent_p.S46S			Q13332	PTPRS_HUMAN	protein tyrosine phosphatase, receptor type, S	46	Ig-like C2-type 1.				cell adhesion (GO:0007155)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|corpus callosum development (GO:0022038)|extracellular matrix organization (GO:0030198)|hippocampus development (GO:0021766)|peptidyl-tyrosine dephosphorylation (GO:0035335)|spinal cord development (GO:0021510)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)	61				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)	Alendronate(DB00630)|Etidronic acid(DB01077)	CCACACCCCCCGACACGCCGA	0.597													C|||	2	0.000399361	0	0	5008	,	,		15086	0.002		0	False		,,,				2504	0					ENST00000372412.4																			0				NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)	61						c.(136-138)tcG>tcA		protein tyrosine phosphatase, receptor type, S		C	,,,	2,4404	4.2+/-10.8	0,2,2201	47	50	49		138,138,138,138	-7.4	0.6	19	dbSNP_134	49	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	PTPRS	NM_002850.3,NM_130853.2,NM_130854.2,NM_130855.2	,,,	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	,,,	46/1949,46/1502,46/1911,46/1506	5274309	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	5802				cell adhesion	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr19:5274309C>T	U35234	CCDS12139.1, CCDS12140.1, CCDS45930.1, CCDS74265.1	19p13.3	2013-02-11				ENSG00000105426		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	9681	protein-coding gene	gene with protein product		601576				8954782, 8524829	Standard	NM_002850		Approved		uc002mbv.3	Q13332		ENST00000587303.1:c.138G>A	19.37:g.5274309C>T						PTPRS_ENST00000588552.1_5'UTR|PTPRS_ENST00000588012.1_Silent_p.S46S|PTPRS_ENST00000587303.1_Silent_p.S46S|PTPRS_ENST00000357368.4_Silent_p.S46S|PTPRS_ENST00000353284.2_Silent_p.S46S|PTPRS_ENST00000348075.2_Silent_p.S46S|PTPRS_ENST00000592099.1_Silent_p.S46S|PTPRS_ENST00000590509.1_Silent_p.S46S|PTPRS_ENST00000262963.6_Silent_p.S46S	p.S46S			Q13332	PTPRS_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)	3	371	-			46			Ig-like C2-type 1.		O75255|O75870|Q15718|Q16341|Q2M3R7	Silent	SNP	ENST00000587303.1	37	c.138G>A	CCDS45930.1																																																																																				0.597	PTPRS-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000450762.2			12	37	0	0	0	1	0	12	37					T	5274309	C	T	5274309	2	4	286	1	0	0	0	0	0	0	0	1	12811	639	23	2		2	PTPRS	19	5274309	Silent	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	1545902	5274309	53854674	601	13731											
TUBB4	10382	broad.mit.edu	37	chr19	6496044	6496044	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcggtctgggaactcctcgcGgatcttactgatgagcagcg	7	9	14	11	4	2	2	0	2	2	0	4	4	3	4	1	3	4	1	1	3	2	1			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr19:6496044G>A	ENST00000264071.2	-	4	837	c.466C>T	c.(466-468)Cgc>Tgc	p.R156C	CTD-2396E7.10_ENST00000596027.1_RNA|TUBB4A_ENST00000601152.1_3'UTR|CTD-2396E7.9_ENST00000599292.1_RNA|TUBB4A_ENST00000540257.1_Missense_Mutation_p.R156C|TUBB4A_ENST00000598006.1_3'UTR			P04350	TBB4A_HUMAN	tubulin, beta 4A class IVa	156					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based process (GO:0007017)|mitotic cell cycle (GO:0000278)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cilium (GO:0005929)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|internode region of axon (GO:0033269)|microtubule (GO:0005874)|myelin sheath (GO:0043209)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)										AACTCCTCGCGGATCTTACTG	0.637																																						ENST00000264071.2																			0											c.(466-468)Cgc>Tgc		tubulin, beta 4A class IVa							153	123	133					19																	6496044		2203	4300	6503	SO:0001583	missense	10382				'de novo' posttranslational protein folding|G2/M transition of mitotic cell cycle|microtubule-based movement|protein polymerization	cytosol|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity	g.chr19:6496044G>A	AK075307	CCDS12168.1	19p13.3	2014-02-05	2011-10-11	2011-10-10	ENSG00000104833	ENSG00000104833		"Tubulins"	20774	protein-coding gene	gene with protein product	"class IVa beta-tubulin"	602662	"tubulin, beta 4", "tubulin, beta 4 class IVa", "dystonia 4, torsion (autosomal dominant)"	TUBB4, DYT4		6865944, 6462917, 23595291	Standard	NM_001289123		Approved	beta-5	uc002mfg.1	P04350		ENST00000264071.2:c.466C>T	19.37:g.6496044G>A	ENSP00000264071:p.Arg156Cys					TUBB4A_ENST00000601152.1_3'UTR|TUBB4A_ENST00000598006.1_3'UTR|TUBB4A_ENST00000540257.1_Missense_Mutation_p.R156C	p.R156C			P04350	TBB4_HUMAN			4	837	-			156					B3KQP4|Q969E5	Missense_Mutation	SNP	ENST00000264071.2	37	c.466C>T	CCDS12168.1	.	.	.	.	.	.	.	.	.	.	G	14.84	2.655409	0.47467	.	.	ENSG00000104833	ENST00000264071;ENST00000540257	T;T	0.72282	-0.64;-0.64	3.98	3.98	0.46160	.	0.000000	0.64402	D	0.000002	D	0.88890	0.6560	H	0.96720	3.87	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	D	0.92846	0.6293	10	0.87932	D	0	.	14.999	0.71455	0.0:0.0:1.0:0.0	.	156	P04350	TBB4A_HUMAN	C	156	ENSP00000264071:R156C;ENSP00000443590:R156C	ENSP00000264071:R156C	R	-	1	0	TUBB4	6447044	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.426000	0.73374	1.795000	0.52594	0.549000	0.68633	CGC		0.637	TUBB4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457841.1	NM_006087		22	81	0	0	0	1	0	22	81					A	6496044	G	A	6496044	3	1	286	1	0	0	0	0	1	0	0	0	16755	1116	39	2	872	2	TUBB4	19	6496044	Missense_Mutation	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	1221735	6496044	52632939	602	13732											
MYO1F	4542	broad.mit.edu	37	chr19	8612974	8612974	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgctgcagcttctcattgacGaagttgatgcaaaactgctc	10	12	9	10	1	1	2	1	2	1	0	3	3	1	2	0	0	6	6	0	0	3	3			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr19:8612974G>A	ENST00000338257.8	-	12	1482	c.1215C>T	c.(1213-1215)ttC>ttT	p.F405F	AC092316.1_ENST00000598703.1_RNA|AC092316.2_ENST00000581156.1_RNA	NM_012335.3	NP_036467.2	O00160	MYO1F_HUMAN	myosin IF	405	Myosin motor.				defense response to Gram-positive bacterium (GO:0050830)|negative regulation of cell adhesion (GO:0007162)|neutrophil degranulation (GO:0043312)|positive regulation of cell migration (GO:0030335)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of innate immune response (GO:0045088)	cortical actin cytoskeleton (GO:0030864)|filamentous actin (GO:0031941)|unconventional myosin complex (GO:0016461)	actin binding (GO:0003779)|ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(7)|lung(13)|ovary(3)|prostate(3)|skin(3)|urinary_tract(1)	42						TCTCATTGACGAAGTTGATGC	0.552																																						ENST00000338257.8																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(7)|lung(13)|ovary(3)|prostate(3)|skin(3)|urinary_tract(1)	42						c.(1213-1215)ttC>ttT		myosin IF							140	136	137					19																	8612974		1916	4131	6047	SO:0001819	synonymous_variant	4542					unconventional myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	g.chr19:8612974G>A	X98411	CCDS42494.1	19p13.3-p13.2	2011-09-27			ENSG00000142347	ENSG00000142347		"Myosins / Myosin superfamily : Class I"	7600	protein-coding gene	gene with protein product		601480				9119401, 8884266	Standard	NM_012335		Approved		uc002mkg.3	O00160	OTTHUMG00000156005	ENST00000338257.8:c.1215C>T	19.37:g.8612974G>A							p.F405F	NM_012335.3	NP_036467.2	O00160	MYO1F_HUMAN			12	1482	-			405			Myosin head-like.		Q8WWN7	Silent	SNP	ENST00000338257.8	37	c.1215C>T	CCDS42494.1																																																																																				0.552	MYO1F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342716.2			26	161	0	0	0	1	0	26	161					A	8612974	G	A	8612974	2	1	286	1	0	0	0	0	0	0	0	1	10073	1049	37	2		2	MYO1F	19	8612974	Silent	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	2116930	8612974	50516009	603	13733											
QTRT1	81890	broad.mit.edu	37	chr19	10823682	10823682	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagtgacaacacggccgcgcTgcaccacctcacggtccaca	10	4	9	18	4	1	1	1	1	0	0	2	1	2	1	4	2	2	2	4	2	1	0			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr19:10823682T>C	ENST00000250237.5	+	9	1035	c.1025T>C	c.(1024-1026)cTg>cCg	p.L342P		NM_031209.2	NP_112486.1	Q9BXR0	TGT_HUMAN	queuine tRNA-ribosyltransferase 1	342					queuosine biosynthetic process (GO:0008616)|tRNA modification (GO:0006400)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|queuine tRNA-ribosyltransferase activity (GO:0008479)			large_intestine(2)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	12			Epithelial(33;1.55e-05)|all cancers(31;3.42e-05)			ACGGCCGCGCTGCACCACCTC	0.687																																						ENST00000250237.5																			0				large_intestine(2)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	12						c.(1024-1026)cTg>cCg		queuine tRNA-ribosyltransferase 1							44	36	39					19																	10823682		2203	4299	6502	SO:0001583	missense	81890				queuosine biosynthetic process	mitochondrion|nucleus|ribosome	metal ion binding|queuine tRNA-ribosyltransferase activity	g.chr19:10823682T>C	AF302783	CCDS12248.1	19p13.3	2014-06-11	2008-07-31		ENSG00000213339	ENSG00000213339	2.4.2.29		23797	protein-coding gene	gene with protein product	"tRNA-guanine transglycosylase"	609615				20354154	Standard	NM_031209		Approved	TGT	uc002mpr.3	Q9BXR0		ENST00000250237.5:c.1025T>C	19.37:g.10823682T>C	ENSP00000250237:p.Leu342Pro						p.L342P	NM_031209.2	NP_112486.1	Q9BXR0	TGT_HUMAN	Epithelial(33;1.55e-05)|all cancers(31;3.42e-05)		9	1035	+			342					B4DFM7|Q96BQ4|Q9BXQ9	Missense_Mutation	SNP	ENST00000250237.5	37	c.1025T>C	CCDS12248.1	.	.	.	.	.	.	.	.	.	.	T	11.53	1.666720	0.29604	.	.	ENSG00000213339	ENST00000250237	.	.	.	4.33	4.33	0.51752	.	0.062975	0.64402	U	0.000016	T	0.42675	0.1213	N	0.17901	0.54	0.80722	D	1	B	0.12013	0.005	B	0.11329	0.006	T	0.36841	-0.9731	9	0.54805	T	0.06	-9.0707	12.4754	0.55809	0.0:0.0:0.0:1.0	.	342	Q9BXR0	TGT_HUMAN	P	342	.	ENSP00000250237:L342P	L	+	2	0	QTRT1	10684682	1.000000	0.71417	0.929000	0.37066	0.375000	0.29983	4.333000	0.59285	1.601000	0.50113	0.402000	0.26972	CTG		0.687	QTRT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452086.1	NM_031209		7	25	0	0	0	1	0	7	25					C	10823682	T	C	10823682	3	2	286	1	0	0	0	0	1	0	0	0	12885	1580	55	4	1059	4	QTRT1	19	10823682	Missense_Mutation	SNP	T	TCGA-J9-A52C-01A-11D-A26M-08	2210708	10823682	48305301	604	13734											
LDLR	3949	broad.mit.edu	37	chr19	11224018	11224018	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aagatgacgctggaccggagCgagtacaccagcctcatccc	11	5	11	14	3	1	2	1	1	0	1	2	5	2	4	4	2	3	2	4	2	2	1			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr19:11224018C>T	ENST00000558518.1	+	9	1438	c.1251C>T	c.(1249-1251)agC>agT	p.S417S	LDLR_ENST00000558013.1_Silent_p.S417S|LDLR_ENST00000545707.1_Silent_p.S290S|LDLR_ENST00000535915.1_Silent_p.S376S|LDLR_ENST00000455727.2_Silent_p.S249S|LDLR_ENST00000557933.1_Silent_p.S417S	NM_000527.4|NM_001195798.1	NP_000518.1|NP_001182727.1	P01130	LDLR_HUMAN	low density lipoprotein receptor	417					cholesterol homeostasis (GO:0042632)|cholesterol import (GO:0070508)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|endocytosis (GO:0006897)|intestinal cholesterol absorption (GO:0030299)|lipid metabolic process (GO:0006629)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|low-density lipoprotein particle clearance (GO:0034383)|phospholipid transport (GO:0015914)|phototransduction, visible light (GO:0007603)|positive regulation of triglyceride biosynthetic process (GO:0010867)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol homeostasis (GO:2000188)|regulation of phosphatidylcholine catabolic process (GO:0010899)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cell surface (GO:0009986)|clathrin-coated endocytic vesicle membrane (GO:0030669)|coated pit (GO:0005905)|early endosome (GO:0005769)|endosome membrane (GO:0010008)|external side of plasma membrane (GO:0009897)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|low-density lipoprotein particle (GO:0034362)|lysosome (GO:0005764)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|glycoprotein binding (GO:0001948)|low-density lipoprotein particle binding (GO:0030169)|low-density lipoprotein receptor activity (GO:0005041)|very-low-density lipoprotein particle receptor activity (GO:0030229)	p.?(1)		breast(2)|endometrium(2)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Lung NSC(9;0.000245)|Renal(1328;0.0007)|Hepatocellular(1079;0.0524)		GBM - Glioblastoma multiforme(1328;1.36e-05)|STAD - Stomach adenocarcinoma(1328;0.000766)|Lung(535;0.197)	Porfimer(DB00707)	TGGACCGGAGCGAGTACACCA	0.612																																					GBM(18;201 575 7820 21545)	ENST00000558518.1																			1	Unknown(1)	p.?(1)	lung(1)	breast(2)|endometrium(2)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						c.(1249-1251)agC>agT		low density lipoprotein receptor	Methyl aminolevulinate(DB00992)|Porfimer(DB00707)						73	62	66					19																	11224018		2203	4300	6503	SO:0001819	synonymous_variant	3949				cholesterol homeostasis|cholesterol metabolic process|interspecies interaction between organisms|intestinal cholesterol absorption|low-density lipoprotein particle clearance|receptor-mediated endocytosis	clathrin-coated endocytic vesicle membrane|coated pit|early endosome|endosome membrane|external side of plasma membrane|integral to plasma membrane|low-density lipoprotein particle|lysosome	calcium ion binding|low-density lipoprotein receptor activity|protein binding|very-low-density lipoprotein particle receptor activity	g.chr19:11224018C>T	AY114155	CCDS12254.1, CCDS56083.1, CCDS56084.1, CCDS56085.1, CCDS58651.1	19p13.2	2014-09-17	2008-08-01		ENSG00000130164	ENSG00000130164		"Low density lipoprotein receptors"	6547	protein-coding gene	gene with protein product	"familial hypercholesterolemia"	606945					Standard	NM_000527		Approved	LDLCQ2	uc002mqk.4	P01130		ENST00000558518.1:c.1251C>T	19.37:g.11224018C>T						LDLR_ENST00000535915.1_Silent_p.S376S|LDLR_ENST00000455727.2_Silent_p.S249S|LDLR_ENST00000558013.1_Silent_p.S417S|LDLR_ENST00000545707.1_Silent_p.S290S|LDLR_ENST00000557933.1_Silent_p.S417S	p.S417S	NM_000527.4|NM_001195798.1	NP_000518.1|NP_001182727.1	P01130	LDLR_HUMAN		GBM - Glioblastoma multiforme(1328;1.36e-05)|STAD - Stomach adenocarcinoma(1328;0.000766)|Lung(535;0.197)	9	1438	+		Lung NSC(9;0.000245)|Renal(1328;0.0007)|Hepatocellular(1079;0.0524)	417					B4DII3|B4DJZ8|B4DR00|B4DTQ3|C0JYY8|H0YLU8|H0YNT7|Q53ZD9|Q59FQ1|Q9UDH7	Silent	SNP	ENST00000558518.1	37	c.1251C>T	CCDS12254.1																																																																																				0.612	LDLR-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000415973.2			7	36	0	0	0	1	0	7	36					T	11224018	C	T	11224018	2	4	286	1	0	0	0	0	0	0	0	1	8704	767	27	1		1	LDLR	19	11224018	Silent	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	400336	11224018	47904965	605	13735											
ZNF700	90592	broad.mit.edu	37	chr19	12058329	12058329	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tttctgtgtctgtattttagGaaaaaaatggagtgaccaga	13	14	10	4	0	2	2	0	1	2	1	2	4	2	4	1	2	0	1	1	2	5	4			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr19:12058329G>A	ENST00000254321.5	+	3	334	c.191G>A	c.(190-192)gGa>gAa	p.G64E	ZNF700_ENST00000482090.1_Splice_Site_p.G46E|CTD-2006C1.12_ENST00000586394.1_RNA|ZNF763_ENST00000538752.1_Intron|ZNF763_ENST00000591944.1_Intron|ZNF763_ENST00000590798.1_Intron	NM_001271848.1|NM_144566.1	NP_001258777.1|NP_653167.1	Q9H0M5	ZN700_HUMAN	zinc finger protein 700	64	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)		ZNF700/MAST1_ENST00000251472(2)	breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|pancreas(1)|prostate(1)|urinary_tract(1)	33						TGTATTTTAGGAAAAAAATGG	0.368																																						ENST00000482090.1																		ZNF700/MAST1_ENST00000251472(2)	0				breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|pancreas(1)|prostate(1)|urinary_tract(1)	33						c.e2-1		zinc finger protein 700							78	84	82					19																	12058329		2203	4300	6503	SO:0001630	splice_region_variant	90592				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12058329G>A	AL136732	CCDS32915.1, CCDS74289.1	19p13.2	2013-01-08			ENSG00000196757	ENSG00000196757		"Zinc fingers, C2H2-type", "-"	25292	protein-coding gene	gene with protein product							Standard	NM_144566		Approved	DKFZp434I1610	uc031rjk.1	Q9H0M5	OTTHUMG00000156421	ENST00000254321.5:c.191-1G>A	19.37:g.12058329G>A						ZNF763_ENST00000590798.1_Intron|ZNF763_ENST00000591944.1_Intron|ZNF763_ENST00000538752.1_Intron|CTD-2006C1.12_ENST00000586394.1_RNA|ZNF700_ENST00000254321.5_Splice_Site_p.G64_splice	p.G46_splice			Q9H0M5	ZN700_HUMAN			2	555	+			64			KRAB.		B9EGU4	Splice_Site	SNP	ENST00000254321.5	37	c.136_splice	CCDS32915.1	.	.	.	.	.	.	.	.	.	.	g	8.793	0.930978	0.18131	.	.	ENSG00000196757	ENST00000254321	T	0.02552	4.25	0.672	-0.742	0.11108	Krueppel-associated box (4);	.	.	.	.	T	0.07234	0.0183	L	0.56280	1.765	0.09310	N	1	D	0.69078	0.997	D	0.66847	0.947	T	0.30060	-0.9991	8	.	.	.	.	2.4897	0.04607	0.2615:0.3152:0.4233:0.0	.	64	Q9H0M5	ZN700_HUMAN	E	64	ENSP00000254321:G64E	.	G	+	2	0	ZNF700	11919329	0.000000	0.05858	0.002000	0.10522	0.143000	0.21401	0.006000	0.13152	-0.240000	0.09696	0.305000	0.20034	GGA		0.368	ZNF700-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344126.2	NM_144566	Missense_Mutation	5	40	0	0	0	1	0	5	40					A	12058329	G	A	12058329	5	1	286	1	0	0	0	0	0	0	1	0	18101	1188	41	3	201	3	ZNF700	19	12058329	Splice_Site	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	834311	12058329	47070654	606	13736											
ZNF443	10224	broad.mit.edu	37	chr19	12540985	12540985	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gaatgctagtgagtctttttAtgtctatgcaaggaactgag	11	14	11	5	0	2	2	0	2	2	0	2	4	2	3	0	1	3	2	0	1	6	5			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr19:12540985A>G	ENST00000301547.5	-	4	2198	c.2001T>C	c.(1999-2001)caT>caC	p.H667H	CTD-3105H18.16_ENST00000595562.1_Intron	NM_005815.4	NP_005806	Q9Y2A4	ZN443_HUMAN	zinc finger protein 443	667					apoptotic process (GO:0006915)|regulation of transcription, DNA-templated (GO:0006355)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(3)|endometrium(1)|kidney(1)|large_intestine(11)|lung(10)|pancreas(1)|prostate(1)	28						GAGTCTTTTTATGTCTATGCA	0.343																																						ENST00000301547.5																			0				breast(3)|endometrium(1)|kidney(1)|large_intestine(11)|lung(10)|pancreas(1)|prostate(1)	28						c.(1999-2001)caT>caC		zinc finger protein 443							66	70	69					19																	12540985		2195	4293	6488	SO:0001819	synonymous_variant	10224				induction of apoptosis|regulation of transcription, DNA-dependent|response to stress|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12540985A>G	AB011414	CCDS32918.1	19p13.13	2013-01-08			ENSG00000180855	ENSG00000180855		"Zinc fingers, C2H2-type", "-"	20878	protein-coding gene	gene with protein product		606697				9731181	Standard	NM_005815		Approved	ZK1	uc002mtu.3	Q9Y2A4	OTTHUMG00000156404	ENST00000301547.5:c.2001T>C	19.37:g.12540985A>G						CTD-3105H18.16_ENST00000595562.1_Intron	p.H667H	NM_005815.4	NP_005806.2	Q9Y2A4	ZN443_HUMAN			4	2198	-			667						Silent	SNP	ENST00000301547.5	37	c.2001T>C	CCDS32918.1																																																																																				0.343	ZNF443-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344084.1	NM_005815		10	36	0	0	0	1	0	10	36					G	12540985	A	G	12540985	2	3	286	1	0	0	0	0	0	0	0	1	17913	446	16	4		4	ZNF443	19	12540985	Silent	SNP	A	TCGA-J9-A52C-01A-11D-A26M-08	482656	12540985	46587998	607	13737											
DNASE2	1777	broad.mit.edu	37	chr19	12989582	12989582	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgtatgcagcagaggaggccGgtggagggaagttaggtaca	11	7	18	5	1	0	1	0	0	0	1	0	4	0	4	1	6	3	5	1	6	4	3			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr19:12989582G>A	ENST00000222219.3	-	4	505	c.413C>T	c.(412-414)cCg>cTg	p.P138L	CTD-2265O21.7_ENST00000592400.1_RNA|DNASE2_ENST00000538460.1_Intron	NM_001375.2	NP_001366.1	O00115	DNS2A_HUMAN	deoxyribonuclease II, lysosomal	138					apoptotic DNA fragmentation (GO:0006309)|DNA metabolic process (GO:0006259)|erythrocyte differentiation (GO:0030218)	extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|lysosome (GO:0005764)	deoxyribonuclease II activity (GO:0004531)|DNA binding (GO:0003677)			breast(1)|large_intestine(1)|lung(4)|ovary(1)	7						AGAGGAGGCCGGTGGAGGGAA	0.587																																						ENST00000222219.3																			0				breast(1)|large_intestine(1)|lung(4)|ovary(1)	7						c.(412-414)cCg>cTg		deoxyribonuclease II, lysosomal							69	60	63					19																	12989582		2203	4300	6503	SO:0001583	missense	1777				apoptosis	lysosome	deoxyribonuclease II activity|DNA binding|protein binding	g.chr19:12989582G>A	AF045937	CCDS12284.1	19p13.2	2012-10-02			ENSG00000105612	ENSG00000105612	3.1.22.1		2960	protein-coding gene	gene with protein product		126350		DNL, DNL2		1586130	Standard	NM_001375		Approved		uc002mvn.1	O00115		ENST00000222219.3:c.413C>T	19.37:g.12989582G>A	ENSP00000222219:p.Pro138Leu					DNASE2_ENST00000538460.1_Intron	p.P138L	NM_001375.2	NP_001366.1	O00115	DNS2A_HUMAN			4	505	-			138					B2RD06|B7Z4K6|O43910	Missense_Mutation	SNP	ENST00000222219.3	37	c.413C>T	CCDS12284.1	.	.	.	.	.	.	.	.	.	.	G	7.936	0.741647	0.15642	.	.	ENSG00000105612	ENST00000222219	T	0.12361	2.69	5.33	0.447	0.16608	.	0.477033	0.22974	N	0.053400	T	0.12008	0.0292	M	0.78456	2.415	0.18873	N	0.999982	B	0.19583	0.037	B	0.15484	0.013	T	0.43507	-0.9387	10	0.06625	T	0.88	.	5.414	0.16363	0.0721:0.121:0.5576:0.2494	.	138	O00115	DNS2A_HUMAN	L	138	ENSP00000222219:P138L	ENSP00000222219:P138L	P	-	2	0	DNASE2	12850582	0.031000	0.19500	0.006000	0.13384	0.000000	0.00434	0.451000	0.21779	0.195000	0.20347	-1.818000	0.00600	CCG		0.587	DNASE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451790.1			6	28	0	0	0	1	0	6	28					A	12989582	G	A	12989582	3	1	286	1	0	0	0	0	1	0	0	0	4664	1116	39	2	681	2	DNASE2	19	12989582	Missense_Mutation	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	448597	12989582	46139401	608	13738											
CACNA1A	773	broad.mit.edu	37	chr19	13423524	13423524	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaagagtggaagtaaggccGcgtcccaagcccgtacattt	11	7	13	10	3	0	1	0	0	0	1	1	3	1	3	3	3	2	2	3	3	5	3			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr19:13423524G>A	ENST00000360228.5	-	12	1626	c.1627C>T	c.(1627-1629)Cgg>Tgg	p.R543W	CACNA1A_ENST00000573710.2_Missense_Mutation_p.R544W	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	544					adult walking behavior (GO:0007628)|behavioral response to pain (GO:0048266)|calcium ion import (GO:0070509)|calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cell death (GO:0008219)|cell growth (GO:0016049)|cellular chloride ion homeostasis (GO:0030644)|cerebellar molecular layer development (GO:0021679)|cerebellar Purkinje cell differentiation (GO:0021702)|cerebellum maturation (GO:0021590)|dendrite morphogenesis (GO:0048813)|energy reserve metabolic process (GO:0006112)|gamma-aminobutyric acid secretion (GO:0014051)|gamma-aminobutyric acid signaling pathway (GO:0007214)|glucose metabolic process (GO:0006006)|hormone metabolic process (GO:0042445)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|musculoskeletal movement, spinal reflex action (GO:0050883)|negative regulation of hormone biosynthetic process (GO:0032353)|negative regulation of neuron apoptotic process (GO:0043524)|neuromuscular process controlling balance (GO:0050885)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter metabolic process (GO:0042133)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|receptor clustering (GO:0043113)|regulation of acetylcholine secretion, neurotransmission (GO:0014056)|regulation of axonogenesis (GO:0050770)|regulation of calcium ion-dependent exocytosis (GO:0017158)|regulation of insulin secretion (GO:0050796)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|spinal cord motor neuron differentiation (GO:0021522)|sulfur amino acid metabolic process (GO:0000096)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transmission of nerve impulse (GO:0019226)|vestibular nucleus development (GO:0021750)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|syntaxin binding (GO:0019905)|voltage-gated calcium channel activity (GO:0005245)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Loperamide(DB00836)|Pregabalin(DB00230)|Spironolactone(DB00421)|Verapamil(DB00661)	AAGTAAGGCCGCGTCCCAAGC	0.438																																						ENST00000360228.5																			0				breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42						c.(1627-1629)Cgg>Tgg		calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)						97	93	94					19																	13423524		1889	4101	5990	SO:0001583	missense	773				cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding	g.chr19:13423524G>A	U79666	CCDS45998.1, CCDS45999.1	19p13	2014-09-17			ENSG00000141837	ENSG00000141837		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1388	protein-coding gene	gene with protein product		601011		CACNL1A4, SCA6, MHP1, MHP		8825650, 16382099, 23827678	Standard	NM_000068		Approved	Cav2.1, EA2, APCA, HPCA, FHM	uc010xne.2	O00555	OTTHUMG00000044590	ENST00000360228.5:c.1627C>T	19.37:g.13423524G>A	ENSP00000353362:p.Arg543Trp					CACNA1A_ENST00000573710.2_Missense_Mutation_p.R544W	p.R543W	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		12	1626	-			544					J3KP41|P78510|P78511|Q16290|Q92690|Q99790|Q99791|Q99792|Q99793|Q9NS88|Q9UDC4	Missense_Mutation	SNP	ENST00000360228.5	37	c.1627C>T	CCDS45998.1	.	.	.	.	.	.	.	.	.	.	G	14.14	2.446437	0.43429	.	.	ENSG00000141837	ENST00000360228;ENST00000418012;ENST00000357018;ENST00000325084	D	0.97850	-4.57	5.11	2.72	0.32119	Ion transport (1);	0.077242	0.49916	D	0.000135	D	0.98021	0.9348	M	0.75085	2.285	0.36727	D	0.881496	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.965;0.999;0.997	D	0.98789	1.0735	10	0.72032	D	0.01	.	7.6682	0.28443	0.0896:0.0:0.66:0.2504	.	544;544;543	O00555;E9PD31;Q9NS88	CAC1A_HUMAN;.;.	W	543;544;544;544	ENSP00000353362:R543W	ENSP00000317661:R544W	R	-	1	2	CACNA1A	13284524	0.993000	0.37304	1.000000	0.80357	0.972000	0.66771	1.879000	0.39618	1.285000	0.44548	-0.142000	0.14014	CGG		0.438	CACNA1A-001	KNOWN	non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000104062.2	NM_000068		9	45	0	0	0	1	0	9	45					A	13423524	G	A	13423524	3	1	286	1	0	0	0	0	1	0	0	0	2538	1086	38	1	6148	1	CACNA1A	19	13423524	Missense_Mutation	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	433942	13423524	45705459	609	13739											
IL27RA	9466	broad.mit.edu	37	chr19	14157260	14157260	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agattcagcctctgccccccGtagcgtggcagtcagcagca	8	7	11	15	2	3	1	2	0	1	1	3	1	3	1	4	1	5	4	4	1	1	2			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr19:14157260G>A	ENST00000263379.2	+	8	1096	c.971G>A	c.(970-972)cGt>cAt	p.R324H		NM_004843.3	NP_004834.1	Q6UWB1	I27RA_HUMAN	interleukin 27 receptor, alpha	324	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell surface receptor signaling pathway (GO:0007166)|defense response to Gram-positive bacterium (GO:0050830)|immune response (GO:0006955)|negative regulation of type 2 immune response (GO:0002829)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of T-helper 1 type immune response (GO:0002827)|regulation of isotype switching to IgG isotypes (GO:0048302)	integral component of plasma membrane (GO:0005887)	interleukin-27 receptor activity (GO:0045509)|transmembrane signaling receptor activity (GO:0004888)			breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	26						TCTGCCCCCCGTAGCGTGGCA	0.637																																					Colon(164;1849 1896 4443 37792 47834)	ENST00000263379.2																			0				breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	26						c.(970-972)cGt>cAt		interleukin 27 receptor, alpha							72	76	74					19																	14157260		2203	4300	6503	SO:0001583	missense	9466				cell surface receptor linked signaling pathway|immune response	integral to plasma membrane	transmembrane receptor activity	g.chr19:14157260G>A	AF053004	CCDS12303.1	19p13.11	2013-02-11				ENSG00000104998		"Interleukins and interleukin receptors", "Fibronectin type III domain containing"	17290	protein-coding gene	gene with protein product	"T-cell cytokine receptor type 1"	605350				9600072, 11057672	Standard	NM_004843		Approved	WSX-1, TCCR, CRL1, WSX1, zcytor1, IL-27R	uc002mxx.4	Q6UWB1		ENST00000263379.2:c.971G>A	19.37:g.14157260G>A	ENSP00000263379:p.Arg324His						p.R324H	NM_004843.3	NP_004834.1	Q6UWB1	I27RA_HUMAN			8	1096	+			324			Fibronectin type-III 2.		A0N0L1|O60624	Missense_Mutation	SNP	ENST00000263379.2	37	c.971G>A	CCDS12303.1	.	.	.	.	.	.	.	.	.	.	G	4.600	0.111476	0.08831	.	.	ENSG00000104998	ENST00000263379	T	0.58652	0.32	4.22	-8.43	0.00953	Fibronectin, type III (4);Immunoglobulin-like fold (1);	2.170620	0.02086	N	0.052783	T	0.27205	0.0667	N	0.00605	-1.335	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.47724	-0.9095	10	0.13470	T	0.59	-1.6855	19.931	0.97118	0.1756:0.0:0.8244:0.0	.	324	Q6UWB1	I27RA_HUMAN	H	324	ENSP00000263379:R324H	ENSP00000263379:R324H	R	+	2	0	IL27RA	14018260	0.000000	0.05858	0.000000	0.03702	0.041000	0.13682	-0.973000	0.03798	-2.505000	0.00508	-1.296000	0.01341	CGT		0.637	IL27RA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458539.1	NM_004843		6	106	0	0	0	1	0	6	106					A	14157260	G	A	14157260	3	1	286	1	0	0	0	0	1	0	0	0	7681	1145	40	1	1001	1	IL27RA	19	14157260	Missense_Mutation	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	733736	14157260	44971723	610	13740											
WIZ	58525	broad.mit.edu	37	chr19	15535752	15535752	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgacgcaccactcggtcacGccgaactgccgcaggtgtgc	7	7	12	15	5	1	1	1	1	0	0	2	2	1	1	3	2	3	2	3	2	1	1	rs374273293		TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr19:15535752G>A	ENST00000389282.4	-	8	4485	c.4272C>T	c.(4270-4272)ggC>ggT	p.G1424G	WIZ_ENST00000599910.2_Silent_p.G741G|WIZ_ENST00000545156.1_Silent_p.G738G|WIZ_ENST00000263381.7_Silent_p.G567G|WIZ_ENST00000599686.3_Silent_p.G608G			O95785	WIZ_HUMAN	widely interspaced zinc finger motifs	1424					positive regulation of nuclear cell cycle DNA replication (GO:0010571)|protein heterotrimerization (GO:0070208)|protein stabilization (GO:0050821)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1)	24						ACTCGGTCACGCCGAACTGCC	0.657																																						ENST00000389282.4																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1)	24						c.(4270-4272)ggC>ggT		widely interspaced zinc finger motifs		G		0,4096		0,0,2048	12	14	13		1701	-9.2	0.7	19		13	2,8376		0,2,4187	no	coding-synonymous	WIZ	NM_021241.2		0,2,6235	AA,AG,GG		0.0239,0.0,0.016		567/795	15535752	2,12472	2048	4189	6237	SO:0001819	synonymous_variant	58525					nucleus	zinc ion binding	g.chr19:15535752G>A	AK091183	CCDS42516.1	19p13.12	2012-10-05	2007-01-18		ENSG00000011451	ENSG00000011451		"Zinc fingers, C2H2-type"	30917	protein-coding gene	gene with protein product			"WIZ zinc finger"			9795207, 12226707	Standard	NM_021241		Approved	ZNF803	uc002nbb.4	O95785		ENST00000389282.4:c.4272C>T	19.37:g.15535752G>A						WIZ_ENST00000599910.1_Silent_p.G741G|WIZ_ENST00000263381.6_Silent_p.G567G|WIZ_ENST00000599686.2_Silent_p.G608G|WIZ_ENST00000545156.1_Silent_p.G738G	p.G1424G			O95785	WIZ_HUMAN			8	4485	-			1424					B3KVH1|B7ZM82|M0QY21|Q4G0E0|Q6P6B0|Q6ZN24|Q7LDY6|Q7LDZ1|Q96IG5|Q96SQ6|Q9BUR8|Q9NPT1	Silent	SNP	ENST00000389282.4	37	c.4272C>T																																																																																					0.657	WIZ-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_021241		3	8	0	0	0	1	0	3	8					A	15535752	G	A	15535752	2	1	286	1	0	0	0	0	0	0	0	1	17372	1074	38	1		1	WIZ	19	15535752	Silent	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	1378492	15535752	43593231	611	13741											
PGLYRP2	114770	broad.mit.edu	37	chr19	15580623	15580623	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcctcggtgggcagcgccgcGgtgtagttgcccactatggc	4	8	16	13	4	0	0	0	0	0	0	1	0	0	0	3	4	2	3	3	4	2	3			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr19:15580623G>A	ENST00000340880.4	-	4	1941	c.1461C>T	c.(1459-1461)acC>acT	p.T487T	PGLYRP2_ENST00000292609.4_Silent_p.T487T	NM_052890.3	NP_443122.3	Q96PD5	PGRP2_HUMAN	peptidoglycan recognition protein 2	487					defense response to Gram-positive bacterium (GO:0050830)|detection of bacterium (GO:0016045)|growth of symbiont in host (GO:0044117)|innate immune response (GO:0045087)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of natural killer cell differentiation involved in immune response (GO:0032827)|pattern recognition receptor signaling pathway (GO:0002221)|peptide amidation (GO:0001519)|peptidoglycan catabolic process (GO:0009253)|regulation of inflammatory response (GO:0050727)	extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)	N-acetylmuramoyl-L-alanine amidase activity (GO:0008745)|peptidoglycan binding (GO:0042834)|peptidoglycan receptor activity (GO:0016019)|zinc ion binding (GO:0008270)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(3)|prostate(2)|skin(3)|stomach(2)|urinary_tract(1)	28						GCAGCGCCGCGGTGTAGTTGC	0.731																																						ENST00000292609.4																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(3)|prostate(2)|skin(3)|stomach(2)|urinary_tract(1)	28						c.(1459-1461)acC>acT		peptidoglycan recognition protein 2							6	8	8					19																	15580623		2144	4195	6339	SO:0001819	synonymous_variant	114770				defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptide amidation|peptidoglycan catabolic process	extracellular region|intracellular|membrane	N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding	g.chr19:15580623G>A	AY358156	CCDS12330.2	19p13.12	2010-04-27			ENSG00000161031	ENSG00000161031	3.5.1.28		30013	protein-coding gene	gene with protein product	"peptidoglycan recognition protein L precursor", "peptidoglycan recognition protein-like", "N-acetylmuramoyl-L-alanine amidase"	608199				11461926, 12669421, 14506276	Standard	NM_052890		Approved	PGRP-L, PGLYRPL, TAGL-like, tagL, tagL-alpha, tagl-beta, PGRPL	uc002nbf.4	Q96PD5	OTTHUMG00000150690	ENST00000340880.4:c.1461C>T	19.37:g.15580623G>A						PGLYRP2_ENST00000340880.4_Silent_p.T487T	p.T487T			Q96PD5	PGRP2_HUMAN			4	1590	-			487					A8K050|A8K8C7|B2RMZ2|B7ZM33|Q68CK1|Q96N74|Q9UC60	Silent	SNP	ENST00000340880.4	37	c.1461C>T	CCDS12330.2																																																																																				0.731	PGLYRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319626.1	NM_052890		3	5	0	0	0	1	0	3	5					A	15580623	G	A	15580623	2	1	286	1	0	0	0	0	0	0	0	1	11794	1103	39	2		2	PGLYRP2	19	15580623	Silent	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	44871	15580623	43548360	612	13742											
NWD1	284434	broad.mit.edu	37	chr19	16860827	16860827	+	Frame_Shift_Del	DEL	C	C	-																															ccctggctgcctctcaactgCcccccgagggtgcacctcat																										TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr19:16860827delC	ENST00000552788.1	+	4	1374	c.1374delC	c.(1372-1374)tgcfs	p.C458fs	NWD1_ENST00000549814.1_Frame_Shift_Del_p.C458fs|NWD1_ENST00000523826.1_Frame_Shift_Del_p.C252fs|NWD1_ENST00000524140.2_Frame_Shift_Del_p.C458fs|NWD1_ENST00000339803.6_Frame_Shift_Del_p.C323fs|NWD1_ENST00000379808.3_Frame_Shift_Del_p.C458fs			Q149M9	NWD1_HUMAN	NACHT and WD repeat domain containing 1	458	NACHT.						ATP binding (GO:0005524)			NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						CTCTCAACTGCCCCCCGAGGG	0.632																																						ENST00000524140.2																			0				NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						c.(1372-1374)tgfs		NACHT and WD repeat domain containing 1							71	71	71					19																	16860827		2203	4300	6503	SO:0001589	frameshift_variant	284434						ATP binding	g.chr19:16860827delC	BX648940	CCDS32945.1, CCDS32945.2	19p13.11	2013-01-09				ENSG00000188039		"WD repeat domain containing"	27619	protein-coding gene	gene with protein product							Standard	NM_001007525		Approved		uc002neu.4	Q149M9		ENST00000552788.1:c.1374delC	19.37:g.16860827delC	ENSP00000447224:p.Cys458fs					NWD1_ENST00000552788.1_Frame_Shift_Del_p.C458fs|NWD1_ENST00000549814.1_Frame_Shift_Del_p.C458fs|NWD1_ENST00000523826.1_Frame_Shift_Del_p.C252fs|NWD1_ENST00000379808.3_Frame_Shift_Del_p.C458fs|NWD1_ENST00000339803.6_Frame_Shift_Del_p.C323fs	p.C458fs	NM_001007525.3	NP_001007526.3	Q149M9	NWD1_HUMAN			6	1792	+			458			NACHT.		C9J021|Q68CT3	Frame_Shift_Del	DEL	ENST00000552788.1	37	c.1374delC																																																																																					0.632	NWD1-005	NOVEL	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000403569.1	NM_001007525		18	79						18	79	---	---	---	---	-	16860827	C	-	16860827	7	5	286	1	0	1	0	1	0	0	0	0	10781	747	26	0	975	0	NWD1	19	16860827	Frame_Shift_Del	DEL	C	TCGA-J9-A52C-01A-11D-A26M-08	1280204	16860827	42268156	613	13743											
JAK3	3718	broad.mit.edu	37	chr19	17943479	17943479	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcacctgtattgtcgcctagCgggtcatagcggcacagctc	7	9	12	13	3	1	0	1	0	0	0	3	0	1	0	2	2	3	4	2	2	3	4			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr19:17943479C>T	ENST00000527670.1	-	18	2558	c.2529G>A	c.(2527-2529)ccG>ccA	p.P843P	JAK3_ENST00000458235.1_Silent_p.P843P|JAK3_ENST00000534444.1_Silent_p.P843P			P52333	JAK3_HUMAN	Janus kinase 3	843	Protein kinase 2. {ECO:0000255|PROSITE- ProRule:PRU00159}.				B cell differentiation (GO:0030183)|enzyme linked receptor protein signaling pathway (GO:0007167)|innate immune response (GO:0045087)|interleukin-4-mediated signaling pathway (GO:0035771)|intracellular signal transduction (GO:0035556)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|negative regulation of dendritic cell cytokine production (GO:0002731)|negative regulation of FasL biosynthetic process (GO:0045221)|negative regulation of interleukin-10 production (GO:0032693)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of T cell activation (GO:0050868)|negative regulation of T-helper 1 cell differentiation (GO:0045626)|negative regulation of thymocyte apoptotic process (GO:0070244)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of dendritic cell apoptotic process (GO:2000670)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of T cell apoptotic process (GO:0070232)|response to interleukin-15 (GO:0070672)|response to interleukin-2 (GO:0070669)|response to interleukin-4 (GO:0070670)|response to interleukin-9 (GO:0071104)|STAT protein import into nucleus (GO:0007262)|T cell homeostasis (GO:0043029)|tyrosine phosphorylation of STAT protein (GO:0007260)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)			breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(85)|kidney(4)|large_intestine(11)|lung(22)|ovary(3)|prostate(5)|skin(1)|stomach(2)|upper_aerodigestive_tract(5)	147					Tofacitinib(DB08895)	TGTCGCCTAGCGGGTCATAGC	0.622		2	Mis		"acute megakaryocytic leukemia, ETP ALL"																																	ENST00000458235.1		2		Dom	yes		19	19p13.1	3718	Mis	Janus kinase 3			L			"acute megakaryocytic leukemia, ETP ALL"		0				breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(85)|kidney(4)|large_intestine(11)|lung(22)|ovary(3)|prostate(5)|skin(1)|stomach(2)|upper_aerodigestive_tract(5)	147						c.(2527-2529)ccG>ccA		Janus kinase 3							85	78	81					19																	17943479		2203	4300	6503	SO:0001819	synonymous_variant	3718				B cell differentiation|cytokine-mediated signaling pathway|enzyme linked receptor protein signaling pathway|intracellular protein kinase cascade|negative regulation of dendritic cell cytokine production|negative regulation of FasL biosynthetic process|negative regulation of interleukin-10 production|negative regulation of interleukin-12 production|negative regulation of T-helper 1 cell differentiation|negative regulation of thymocyte apoptosis|peptidyl-tyrosine phosphorylation|positive regulation of anti-apoptosis|response to interleukin-15|response to interleukin-2|response to interleukin-4|response to interleukin-9|T cell homeostasis	cytoskeleton|cytosol|endomembrane system|membrane	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding	g.chr19:17943479C>T	U31601	CCDS12366.1	19p13-p12	2014-09-17	2009-04-23		ENSG00000105639	ENSG00000105639	2.7.10.1		6193	protein-coding gene	gene with protein product	"tyrosine-protein kinase JAK3", "leukocyte Janus kinase"	600173				8921370, 9226382	Standard	NM_000215		Approved	L-JAK, JAKL, LJAK, JAK3_HUMAN, JAK-3	uc002nhn.4	P52333	OTTHUMG00000165648	ENST00000527670.1:c.2529G>A	19.37:g.17943479C>T						JAK3_ENST00000534444.1_Silent_p.P843P|JAK3_ENST00000527670.1_Silent_p.P843P	p.P843P	NM_000215.3	NP_000206.2	P52333	JAK3_HUMAN			19	2628	-			843			Protein kinase 2.		Q13259|Q13260|Q13611|Q8N1E8|Q99699|Q9Y6S2	Silent	SNP	ENST00000527670.1	37	c.2529G>A	CCDS12366.1																																																																																				0.622	JAK3-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385549.1	NM_000215		15	76	0	0	0	1	0	15	76					T	17943479	C	T	17943479	2	4	286	1	0	0	0	0	0	0	0	1	7939	755	27	1		1	JAK3	19	17943479	Silent	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	1082652	17943479	41185504	614	13744											
UPF1	5976	broad.mit.edu	37	chr19	18976421	18976421	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgggggacgccagaagaaccGctttgggcttcctggaccca	8	7	14	12	2	0	2	0	0	0	2	1	4	1	4	4	4	1	2	4	4	2	2			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr19:18976421G>A	ENST00000599848.1	+	22	3313	c.3104G>A	c.(3103-3105)cGc>cAc	p.R1035H	UPF1_ENST00000262803.5_Missense_Mutation_p.R1024H			Q92900	RENT1_HUMAN	UPF1 regulator of nonsense transcripts homolog (yeast)	1035					ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|dosage compensation by inactivation of X chromosome (GO:0009048)|gene expression (GO:0010467)|histone mRNA catabolic process (GO:0071044)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process (GO:0000956)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of translational termination (GO:0006449)|RNA metabolic process (GO:0016070)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|exon-exon junction complex (GO:0035145)|nucleus (GO:0005634)|supraspliceosomal complex (GO:0044530)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40						CAGAAGAACCGCTTTGGGCTT	0.652																																						ENST00000262803.5																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40						c.(3070-3072)cGc>cAc		UPF1 regulator of nonsense transcripts homolog (yeast)							82	87	86					19																	18976421		2203	4300	6503	SO:0001583	missense	5976				cell cycle|DNA repair|DNA replication|histone mRNA catabolic process|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translational termination	chromatin|cytoplasmic mRNA processing body|exon-exon junction complex	ATP binding|ATP-dependent RNA helicase activity|chromatin binding|DNA binding|protein binding|RNA binding|zinc ion binding	g.chr19:18976421G>A	AF074016	CCDS12386.1, CCDS74315.1	19p13.2-p13.11	2012-02-29	2006-02-07	2006-02-07	ENSG00000005007	ENSG00000005007			9962	protein-coding gene	gene with protein product	"UP Frameshift 1", "smg-2 homolog, nonsense mediated mRNA decay factor (C. elegans)"	601430	"regulator of nonsense transcripts 1"	RENT1		8855285, 9064659	Standard	XM_005260015		Approved	HUPF1, KIAA0221, NORF1, pNORF1, smg-2	uc002nkf.3	Q92900		ENST00000599848.1:c.3104G>A	19.37:g.18976421G>A	ENSP00000470142:p.Arg1035His					UPF1_ENST00000599848.1_Missense_Mutation_p.R1035H	p.R1024H	NM_002911.3	NP_002902.2	Q92900	RENT1_HUMAN			22	3343	+			1035					O00239|O43343|Q86Z25|Q92842	Missense_Mutation	SNP	ENST00000599848.1	37	c.3071G>A		.	.	.	.	.	.	.	.	.	.	g	21.4	4.140987	0.77775	.	.	ENSG00000005007	ENST00000262803	D	0.89681	-2.55	4.78	4.78	0.61160	.	0.181315	0.47455	D	0.000223	T	0.81692	0.4876	L	0.34521	1.04	0.58432	D	0.999995	P;P	0.48640	0.913;0.715	B;B	0.35470	0.128;0.203	T	0.83041	-0.0157	10	0.37606	T	0.19	-36.6408	16.3868	0.83507	0.0:0.0:1.0:0.0	.	1035;1024	Q92900;Q92900-2	RENT1_HUMAN;.	H	1024	ENSP00000262803:R1024H	ENSP00000262803:R1024H	R	+	2	0	UPF1	18837421	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	6.329000	0.72920	2.213000	0.71641	0.479000	0.44913	CGC		0.652	UPF1-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000464684.1	NM_002911		24	143	0	0	0	1	0	24	143					A	18976421	G	A	18976421	3	1	286	1	0	0	0	0	1	0	0	0	17000	1087	38	1	3157	1	UPF1	19	18976421	Missense_Mutation	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	1032942	18976421	40152562	615	13745											
SF4	57794	broad.mit.edu	37	chr19	19414533	19414533	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccttccccggagatactcacGcaaatgctgggttatccttg	8	11	9	13	2	1	1	1	0	0	1	3	2	3	1	4	2	2	3	4	2	3	4	rs199690877	byFrequency	TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr19:19414533G>A	ENST00000247001.5	-	5	1009	c.662C>T	c.(661-663)gCa>gTa	p.A221V	SUGP1_ENST00000585763.1_Intron	NM_172231.3	NP_757386.2	Q8IWZ8	SUGP1_HUMAN	SURP and G patch domain containing 1	221					gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	nucleoplasm (GO:0005654)|spliceosomal complex (GO:0005681)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(7)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2)	22						AGATACTCACGCAAATGCTGG	0.542													G|||	2	0.000399361	0	0	5008	,	,		19830	0.002		0	False		,,,				2504	0					ENST00000247001.5																			0				NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(7)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2)	22						c.e5+1		SURP and G patch domain containing 1							189	203	198					19																	19414533		2203	4300	6503	SO:0001630	splice_region_variant	57794				nuclear mRNA splicing, via spliceosome	nucleoplasm|spliceosomal complex	RNA binding	g.chr19:19414533G>A	AF521128	CCDS12399.1	19p13	2013-01-28	2010-08-10	2010-08-10		ENSG00000105705		"G patch domain containing"	18643	protein-coding gene	gene with protein product		607992	"splicing factor 4"	SF4		12594045	Standard	NM_172231		Approved	F23858, DKFZp434E2216, RBP	uc002nmh.3	Q8IWZ8		ENST00000247001.5:c.662+1C>T	19.37:g.19414533G>A						SUGP1_ENST00000585763.1_Intron	p.A221_splice	NM_172231.3	NP_757386.2	Q8IWZ8	SUGP1_HUMAN			5	1009	-			221					O60378|Q6P3X9|Q8TCQ4|Q8WWT4|Q8WWT5|Q9NTG3	Splice_Site	SNP	ENST00000247001.5	37	c.662_splice	CCDS12399.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	12.47	1.946355	0.34377	.	.	ENSG00000105705	ENST00000247001	T	0.47177	0.85	5.02	5.02	0.67125	SWAP/Surp (3);	0.914754	0.09376	N	0.810574	T	0.49575	0.1565	M	0.76938	2.355	0.80722	D	1	B	0.32543	0.375	B	0.25884	0.064	T	0.47032	-0.9148	9	.	.	.	.	12.7768	0.57453	0.0:0.165:0.835:0.0	.	221	Q8IWZ8	SUGP1_HUMAN	V	221	ENSP00000247001:A221V	.	A	-	2	0	SUGP1	19275533	0.998000	0.40836	0.941000	0.38009	0.579000	0.36224	1.306000	0.33505	2.359000	0.80004	0.650000	0.86243	GCA		0.542	SUGP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460128.4	NM_021164	Missense_Mutation	41	171	0	0	0	1	0	41	171					A	19414533	G	A	19414533	5	1	286	1	0	0	0	0	0	0	1	0	14155	1101	38	1	1315	1	SF4	19	19414533	Splice_Site	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	438112	19414533	39714450	616	13746											
ZNF91	7644	broad.mit.edu	37	chr19	23543822	23543822	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catttgtagggtttctctccAgtatgaattctcttatgttt	7	20	7	7	0	2	1	0	1	2	0	5	1	3	1	1	1	0	4	1	1	4	7			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr19:23543822A>G	ENST00000300619.7	-	4	2164	c.1959T>C	c.(1957-1959)acT>acC	p.T653T	ZNF91_ENST00000599743.1_Intron|ZNF91_ENST00000596528.1_5'Flank|ZNF91_ENST00000397082.2_Silent_p.T621T	NM_003430.2	NP_003421.2	Q05481	ZNF91_HUMAN	zinc finger protein 91	653					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)						all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)				GTTTCTCTCCAGTATGAATTC	0.383																																						ENST00000300619.7																			0											c.(1957-1959)acT>acC		zinc finger protein 91							51	55	54					19																	23543822		2087	4224	6311	SO:0001819	synonymous_variant	7644					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:23543822A>G	M61871	CCDS42541.1, CCDS74322.1	19p12	2014-02-04	2006-05-12		ENSG00000167232	ENSG00000167232		"Zinc fingers, C2H2-type", "-"	13166	protein-coding gene	gene with protein product		603971	"zinc finger protein 91 (HPF7, HTF10)"			2023909, 2505992	Standard	XR_430154		Approved	HPF7, HTF10	uc002nre.3	Q05481	OTTHUMG00000183268	ENST00000300619.7:c.1959T>C	19.37:g.23543822A>G						ZNF91_ENST00000397082.2_Silent_p.T621T|ZNF91_ENST00000599743.1_Intron	p.T653T	NM_003430.2	NP_003421.2	Q05481	ZNF91_HUMAN			4	2164	-		all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)	653					A8K5E1|B7Z6G6	Silent	SNP	ENST00000300619.7	37	c.1959T>C	CCDS42541.1																																																																																				0.383	ZNF91-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465891.1	NM_003430		7	35	0	0	0	1	0	7	35					G	23543822	A	G	23543822	2	3	286	1	0	0	0	0	0	0	0	1	18197	175	7	4		4	ZNF91	19	23543822	Silent	SNP	A	TCGA-J9-A52C-01A-11D-A26M-08	4129289	23543822	35585161	617	13747											
ZNF30	90075	broad.mit.edu	37	chr19	35435346	35435347	+	Frame_Shift_Del	DEL	TT	TT	-																															tgtaaggaatgtggaaagacTtttagtcgagcctcgtacct																										TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr19:35435346_35435347delTT	ENST00000601142.1	+	5	1713_1714	c.1476_1477delTT	c.(1474-1479)acttttfs	p.F493fs	ZNF30_ENST00000303586.7_Frame_Shift_Del_p.F494fs|ZNF30_ENST00000426813.2_Frame_Shift_Del_p.F412fs|ZNF30_ENST00000601957.1_3'UTR|ZNF30_ENST00000439785.1_Frame_Shift_Del_p.F494fs			P17039	ZNF30_HUMAN	zinc finger protein 30	493				F -> L (in Ref. 2; CAE45802). {ECO:0000305}.	regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)	16	all_lung(56;8.38e-08)|Lung NSC(56;1.31e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)	GBM - Glioblastoma multiforme(1328;0.0265)		GTGGAAAGACTTTTAGTCGAGC	0.45																																						ENST00000439785.1																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)	16						c.(1477-1482)acttfs		zinc finger protein 30																																				SO:0001589	frameshift_variant	90075				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:35435346_35435347delTT	X52359	CCDS46044.1, CCDS46045.1	19q13.13	2013-01-08	2006-05-10			ENSG00000168661		"Zinc fingers, C2H2-type", "-"	13090	protein-coding gene	gene with protein product			"zinc finger protein 30 (KOX 28)"				Standard	NM_001099437		Approved	KOX28, DKFZp686N19164, FLJ20562	uc010edq.1	P17039		ENST00000601142.1:c.1476_1477delTT	19.37:g.35435348_35435349delTT	ENSP00000469954:p.Phe493fs					ZNF30_ENST00000303586.7_Frame_Shift_Del_p.TF493fs|ZNF30_ENST00000426813.2_Frame_Shift_Del_p.TF411fs|ZNF30_ENST00000601142.1_Frame_Shift_Del_p.TF492fs|ZNF30_ENST00000601957.1_3'UTR	p.TF493fs	NM_001099438.1	NP_001092908.1	P17039	ZNF30_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0849)	GBM - Glioblastoma multiforme(1328;0.0265)	5	1923_1924	+	all_lung(56;8.38e-08)|Lung NSC(56;1.31e-07)|Esophageal squamous(110;0.162)		492	F -> L (in Ref. 2; CAE45802).				A5PLP1|A8K320|B4DIC0|Q6N068	Frame_Shift_Del	DEL	ENST00000601142.1	37	c.1479_1480delTT	CCDS46045.1																																																																																				0.45	ZNF30-003	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000464432.1	NM_194325		12	42						12	42	---	---	---	---	-	35435347	TT	-	35435346	7	5	286	1	0	1	0	1	0	0	0	0	17827	1596	56	0	1493	0	ZNF30	19	35435346	Frame_Shift_Del	DEL	TT	TCGA-J9-A52C-01A-11D-A26M-08	11891524	35435346	23693637	618	13748											
LGALS14	56891	broad.mit.edu	37	chr19	40199855	40199855	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aggtaatggtaaatggccaaCgcatttacaactttgcccat	13	11	8	9	1	0	0	0	0	0	0	0	0	0	0	2	3	4	3	2	3	6	5			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr19:40199855C>T	ENST00000392052.3	+	4	545	c.322C>T	c.(322-324)Cgc>Tgc	p.R108C	LGALS14_ENST00000360675.3_Missense_Mutation_p.R137C	NM_020129.2	NP_064514.1	Q8TCE9	PPL13_HUMAN	lectin, galactoside-binding, soluble, 14	108	Galectin. {ECO:0000255|PROSITE- ProRule:PRU00639}.				apoptotic process (GO:0006915)	nucleus (GO:0005634)	carbohydrate binding (GO:0030246)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|skin(2)|stomach(2)	14	all_cancers(60;4.39e-06)|all_lung(34;6.76e-08)|Lung NSC(34;7.98e-08)|Ovarian(47;0.06)	Myeloproliferative disorder(2;0.0741)	Epithelial(26;1.08e-24)|OV - Ovarian serous cystadenocarcinoma(5;1.92e-24)|all cancers(26;4.12e-22)			AAATGGCCAACGCATTTACAA	0.463																																						ENST00000392052.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|skin(2)|stomach(2)	14						c.(322-324)Cgc>Tgc		lectin, galactoside-binding, soluble, 14							108	105	106					19																	40199855		2203	4300	6503	SO:0001583	missense	56891					nucleus	sugar binding	g.chr19:40199855C>T	AF267852	CCDS12542.1, CCDS46073.1	19q13.2	2014-03-19			ENSG00000006659	ENSG00000006659		"Lectins, galactoside-binding"	30054	protein-coding gene	gene with protein product		607260				11997112	Standard	NM_020129		Approved	PPL13, CLC2	uc002omg.3	Q8TCE9	OTTHUMG00000183143	ENST00000392052.3:c.322C>T	19.37:g.40199855C>T	ENSP00000375905:p.Arg108Cys					LGALS14_ENST00000360675.3_Missense_Mutation_p.R137C	p.R108C	NM_020129.2	NP_064514.1	Q8TCE9	PPL13_HUMAN	Epithelial(26;1.08e-24)|OV - Ovarian serous cystadenocarcinoma(5;1.92e-24)|all cancers(26;4.12e-22)		4	545	+	all_cancers(60;4.39e-06)|all_lung(34;6.76e-08)|Lung NSC(34;7.98e-08)|Ovarian(47;0.06)	Myeloproliferative disorder(2;0.0741)	108			Galectin.		A8MPV8|B2R530|C5HZ19|Q7Z4X8|Q96KD4|Q96KD5|Q96KD6|Q9NR03	Missense_Mutation	SNP	ENST00000392052.3	37	c.322C>T	CCDS46073.1	.	.	.	.	.	.	.	.	.	.	.	1.775	-0.483471	0.04383	.	.	ENSG00000006659	ENST00000392052;ENST00000360675	T;T	0.05855	3.38;3.38	0.902	-0.408	0.12381	Concanavalin A-like lectin/glucanase (1);Galectin, carbohydrate recognition domain (4);Concanavalin A-like lectin/glucanase, subgroup (1);	.	.	.	.	T	0.06005	0.0156	L	0.49455	1.56	0.09310	N	1	B;B	0.17852	0.0;0.024	B;B	0.17098	0.002;0.017	T	0.38866	-0.9641	9	0.38643	T	0.18	.	3.8321	0.08879	0.4214:0.5786:0.0:0.0	.	108;137	Q8TCE9;A8MPV8	PPL13_HUMAN;.	C	108;137	ENSP00000375905:R108C;ENSP00000353893:R137C	ENSP00000353893:R137C	R	+	1	0	LGALS14	44891695	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.558000	0.05978	-0.083000	0.12618	0.313000	0.20887	CGC		0.463	LGALS14-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000465222.1	NM_020129		10	41	0	0	0	1	0	10	41					T	40199855	C	T	40199855	3	4	286	1	0	0	0	0	1	0	0	0	8741	536	19	1	442	1	LGALS14	19	40199855	Missense_Mutation	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	4764509	40199855	18929128	619	13749											
FCGBP	8857	broad.mit.edu	37	chr19	40433639	40433639	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctagctgtgacctttgacccCgagagatccactgagctctg	8	10	10	13	1	1	4	0	3	1	1	2	6	2	4	4	0	2	2	4	0	1	2			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr19:40433639C>T	ENST00000221347.6	-	2	637	c.630G>A	c.(628-630)tcG>tcA	p.S210S		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	210	IgGFc-binding.					extracellular vesicular exosome (GO:0070062)				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			CCTTTGACCCCGAGAGATCCA	0.547																																						ENST00000221347.6																			0				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165						c.(628-630)tcG>tcA		Fc fragment of IgG binding protein							72	72	72					19																	40433639		2203	4300	6503	SO:0001819	synonymous_variant	8857					extracellular region	protein binding	g.chr19:40433639C>T	D84239		19q13.2	2013-09-20			ENSG00000090920	ENSG00000275395			13572	protein-coding gene	gene with protein product	"IgG Fc binding protein", "Human Fc gamma BP"					9182547	Standard	NM_003890		Approved	FC(GAMMA)BP	uc002omp.4	Q9Y6R7	OTTHUMG00000182580	ENST00000221347.6:c.630G>A	19.37:g.40433639C>T							p.S210S	NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)		2	637	-	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		210			IgGFc-binding.		O95784	Silent	SNP	ENST00000221347.6	37	c.630G>A	CCDS12546.1																																																																																				0.547	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462507.1	NM_003890		7	78	0	0	0	1	0	7	78					T	40433639	C	T	40433639	2	4	286	1	0	0	0	0	0	0	0	1	5778	639	23	2		2	FCGBP	19	40433639	Silent	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	233784	40433639	18695344	620	13750											
CYP2B6	1555	broad.mit.edu	37	chr19	41497314	41497314	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgcctcccaccagggccccGccctctgccccttttgggaa	4	7	9	21	2	1	0	0	0	1	0	2	1	2	1	9	2	1	0	9	2	1	2			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr19:41497314G>A	ENST00000324071.4	+	1	111	c.104G>A	c.(103-105)cGc>cAc	p.R35H	CYP2B6_ENST00000598834.1_3'UTR	NM_000767.4	NP_000758.1	P20813	CP2B6_HUMAN	cytochrome P450, family 2, subfamily B, polypeptide 6	35					cellular ketone metabolic process (GO:0042180)|drug metabolic process (GO:0017144)|exogenous drug catabolic process (GO:0042738)|oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen (GO:0016712)			NS(1)|breast(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	28			LUSC - Lung squamous cell carcinoma(20;0.00322)		Amitriptyline(DB00321)|Amlodipine(DB00381)|Amprenavir(DB00701)|Antipyrine(DB01435)|Artemether(DB06697)|Atorvastatin(DB01076)|Azelastine(DB00972)|Benzphetamine(DB00865)|Benzyl alcohol(DB06770)|Bifonazole(DB04794)|Brompheniramine(DB00835)|Bupropion(DB01156)|Carbamazepine(DB00564)|Carbinoxamine(DB00748)|Cholecalciferol(DB00169)|Cinnarizine(DB00568)|Cisapride(DB00604)|Cisplatin(DB00515)|Citalopram(DB00215)|Clobazam(DB00349)|Clofibrate(DB00636)|Clopidogrel(DB00758)|Clotiazepam(DB01559)|Clotrimazole(DB00257)|Colchicine(DB01394)|Cyclophosphamide(DB00531)|Desipramine(DB01151)|Dexamethasone(DB01234)|Dextromethorphan(DB00514)|Diazepam(DB00829)|Diclofenac(DB00586)|Diphenhydramine(DB01075)|Domperidone(DB01184)|Doxorubicin(DB00997)|Efavirenz(DB00625)|Enzalutamide(DB08899)|Epinastine(DB00751)|Erythromycin(DB00199)|Estrone(DB00655)|Ethanol(DB00898)|Ethylmorphine(DB01466)|Flunarizine(DB04841)|Flunitrazepam(DB01544)|Fluoxetine(DB00472)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Fosphenytoin(DB01320)|Halothane(DB01159)|Ifosfamide(DB01181)|Imipramine(DB00458)|Irinotecan(DB00762)|Isoflurane(DB00753)|Itraconazole(DB01167)|Ketamine(DB01221)|Ketobemidone(DB06738)|Ketoconazole(DB01026)|Lidocaine(DB00281)|Loperamide(DB00836)|Lopinavir(DB01601)|Lorcaserin(DB04871)|Malathion(DB00772)|Memantine(DB01043)|Methadone(DB00333)|Methimazole(DB00763)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyltestosterone(DB06710)|Mexiletine(DB00379)|Mianserin(DB06148)|Miconazole(DB01110)|Midazolam(DB00683)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicardipine(DB00622)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nitric Oxide(DB00435)|Orphenadrine(DB01173)|Ospemifene(DB04938)|Paroxetine(DB00715)|Perhexiline(DB01074)|Permethrin(DB04930)|Perphenazine(DB00850)|Pethidine(DB00454)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Prasugrel(DB06209)|Primidone(DB00794)|Promethazine(DB01069)|Propofol(DB00818)|Quinidine(DB00908)|Raloxifene(DB00481)|Regorafenib(DB08896)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Ritonavir(DB00503)|Ropivacaine(DB00296)|Roxithromycin(DB00778)|Selegiline(DB01037)|Sertraline(DB01104)|Sevoflurane(DB01236)|Simvastatin(DB00641)|Sorafenib(DB00398)|Sulfaphenazole(DB06729)|Sulfinpyrazone(DB01138)|Tamoxifen(DB00675)|Temazepam(DB00231)|Testosterone(DB00624)|Thiotepa(DB04572)|Ticlopidine(DB00208)|Tramadol(DB00193)|Tretinoin(DB00755)|Valproic Acid(DB00313)|Venlafaxine(DB00285)|Verapamil(DB00661)	CCAGGGCCCCGCCCTCTGCCC	0.572																																						ENST00000324071.4																			0				NS(1)|breast(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	28						c.(103-105)cGc>cAc		cytochrome P450, family 2, subfamily B, polypeptide 6	Bupropion(DB01156)|Butalbital(DB00241)|Carbamazepine(DB00564)|Clopidogrel(DB00758)|Cyclophosphamide(DB00531)|Efavirenz(DB00625)|Ifosfamide(DB01181)|Memantine(DB01043)|Meperidine(DB00454)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Midazolam(DB00683)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicotine(DB00184)|Orphenadrine(DB01173)|Phenytoin(DB00252)|Propofol(DB00818)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Ticlopidine(DB00208)|Troleandomycin(DB01361)						158	175	169					19																	41497314		2203	4300	6503	SO:0001583	missense	1555				cellular ketone metabolic process|exogenous drug catabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding	g.chr19:41497314G>A	AF182277	CCDS12570.1	19q13.2	2013-07-25	2003-01-14		ENSG00000197408	ENSG00000197408		"Cytochrome P450s"	2615	protein-coding gene	gene with protein product		123930	"cytochrome P450, subfamily IIB (phenobarbital-inducible), polypeptide 6", "cytochrome P450, family 2, subfamily B", "cytochrome P450, subfamily IIB (phenobarbital-inducible)"	CYP2B		7668294, 15128046	Standard	NM_000767		Approved	CPB6, CYPIIB6	uc002opr.1	P20813	OTTHUMG00000182714	ENST00000324071.4:c.104G>A	19.37:g.41497314G>A	ENSP00000324648:p.Arg35His					CYP2B6_ENST00000598834.1_3'UTR	p.R35H	NM_000767.4	NP_000758.1	P20813	CP2B6_HUMAN	LUSC - Lung squamous cell carcinoma(20;0.00322)		1	111	+			35					B4DWP3|Q2V565|Q9UK46	Missense_Mutation	SNP	ENST00000324071.4	37	c.104G>A	CCDS12570.1	.	.	.	.	.	.	.	.	.	.	G	13.81	2.347284	0.41599	.	.	ENSG00000197408	ENST00000324071	T	0.01347	4.99	3.1	-1.05	0.10036	.	1.538470	0.04188	N	0.327764	T	0.04182	0.0116	M	0.89785	3.06	0.09310	N	1	D	0.59357	0.985	B	0.43889	0.435	T	0.44159	-0.9346	10	0.66056	D	0.02	.	4.8714	0.13635	0.1368:0.4295:0.4337:0.0	.	35	P20813	CP2B6_HUMAN	H	35	ENSP00000324648:R35H	ENSP00000324648:R35H	R	+	2	0	CYP2B6	46189154	0.000000	0.05858	0.085000	0.20634	0.142000	0.21351	-0.565000	0.05929	0.141000	0.18875	0.298000	0.19748	CGC		0.572	CYP2B6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463260.1	NM_000767		51	257	0	0	0	1	0	51	257					A	41497314	G	A	41497314	3	1	286	1	0	0	0	0	1	0	0	0	4164	1087	38	1	106	1	CYP2B6	19	41497314	Missense_Mutation	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	1063675	41497314	17631669	621	13751											
CYP2S1	29785	broad.mit.edu	37	chr19	41700463	41700463	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccccagctgagtaagaagtaCggaccggtgttcaccatcta	11	8	10	12	2	2	2	1	1	1	1	2	3	2	3	4	2	2	4	4	2	4	4			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr19:41700463C>T	ENST00000310054.4	+	2	408	c.192C>T	c.(190-192)taC>taT	p.Y64Y	CYP2S1_ENST00000542619.1_5'UTR	NM_030622.6	NP_085125.1	Q96SQ9	CP2S1_HUMAN	cytochrome P450, family 2, subfamily S, polypeptide 1	64					small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			breast(1)|endometrium(3)|large_intestine(3)|lung(5)|skin(2)	14						GTAAGAAGTACGGACCGGTGT	0.617																																						ENST00000310054.4																			0				breast(1)|endometrium(3)|large_intestine(3)|lung(5)|skin(2)	14						c.(190-192)taC>taT		cytochrome P450, family 2, subfamily S, polypeptide 1							76	72	73					19																	41700463		2203	4300	6503	SO:0001819	synonymous_variant	29785				xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|retinoic acid 4-hydroxylase activity	g.chr19:41700463C>T	AA301039	CCDS12573.1	19q13.2	2013-11-11	2003-01-14		ENSG00000167600	ENSG00000167600		"Cytochrome P450s"	15654	protein-coding gene	gene with protein product		611529	"cytochrome P450, subfamily IIS, polypeptide 1"			11181079	Standard	NM_030622		Approved		uc002opw.3	Q96SQ9	OTTHUMG00000182721	ENST00000310054.4:c.192C>T	19.37:g.41700463C>T						CYP2S1_ENST00000542619.1_5'UTR	p.Y64Y	NM_030622.6	NP_085125.1	Q96SQ9	CP2S1_HUMAN			2	408	+			64					Q9BZ66	Silent	SNP	ENST00000310054.4	37	c.192C>T	CCDS12573.1																																																																																				0.617	CYP2S1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463287.1			7	44	0	0	0	1	0	7	44					T	41700463	C	T	41700463	2	4	286	1	0	0	0	0	0	0	0	1	4174	547	19	1		1	CYP2S1	19	41700463	Silent	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	203149	41700463	17428520	622	13752											
IRGC	56269	broad.mit.edu	37	chr19	44223536	44223536	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaccgccctggtgttgggcGtcatccaggccctgccggtc	4	8	14	15	3	1	1	1	0	0	1	3	1	2	1	5	4	1	1	5	4	0	1	rs147576016	byFrequency	TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr19:44223536G>A	ENST00000244314.5	+	2	1025	c.826G>A	c.(826-828)Gtc>Atc	p.V276I		NM_019612.3	NP_062558.1	Q6NXR0	IIGP5_HUMAN	immunity-related GTPase family, cinema	276						membrane (GO:0016020)	GTP binding (GO:0005525)|hydrolase activity, acting on acid anhydrides (GO:0016817)			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(2)	25		Prostate(69;0.0435)				GGTGTTGGGCGTCATCCAGGC	0.637													G|||	21	0.00419329	0.0159	0	5008	,	,		17802	0		0	False		,,,				2504	0				Colon(189;350 2037 11447 13433 38914)	ENST00000244314.5																			0				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(2)	25						c.(826-828)Gtc>Atc		immunity-related GTPase family, cinema		G	ILE/VAL	30,4376	36.0+/-67.5	1,28,2174	53	52	52		826	1.6	0.9	19	dbSNP_134	52	1,8597	1.2+/-3.3	0,1,4298	yes	missense	IRGC	NM_019612.3	29	1,29,6472	AA,AG,GG		0.0116,0.6809,0.2384	possibly-damaging	276/464	44223536	31,12973	2203	4299	6502	SO:0001583	missense	56269					membrane	GTP binding|hydrolase activity, acting on acid anhydrides	g.chr19:44223536G>A	BC066939	CCDS12629.1	19q13.32	2008-02-05	2005-10-31	2005-10-31	ENSG00000124449	ENSG00000124449			28835	protein-coding gene	gene with protein product			"immunity-related GTPase family, cinema 1"	IRGC1		12477932	Standard	NM_019612		Approved	Iigp5, CINEMA	uc002oxh.3	Q6NXR0	OTTHUMG00000154587	ENST00000244314.5:c.826G>A	19.37:g.44223536G>A	ENSP00000244314:p.Val276Ile						p.V276I	NM_019612.3	NP_062558.1	Q6NXR0	IIGP5_HUMAN			2	1025	+		Prostate(69;0.0435)	276					Q05BR8	Missense_Mutation	SNP	ENST00000244314.5	37	c.826G>A	CCDS12629.1	6	0.0027472527472527475	6	0.012195121951219513	0	0.0	0	0.0	0	0.0	G	8.611	0.889235	0.17540	0.006809	1.16E-4	ENSG00000124449	ENST00000244314	T	0.21734	1.99	4.91	1.63	0.23807	.	0.744301	0.11939	N	0.514874	T	0.13243	0.0321	L	0.42245	1.32	0.09310	N	0.999996	D	0.57571	0.98	P	0.45276	0.475	T	0.12041	-1.0563	10	0.25751	T	0.34	.	8.3971	0.32564	0.2589:0.0:0.7411:0.0	.	276	Q6NXR0	IIGP5_HUMAN	I	276	ENSP00000244314:V276I	ENSP00000244314:V276I	V	+	1	0	IRGC	48915376	0.003000	0.15002	0.854000	0.33618	0.196000	0.23810	1.036000	0.30228	1.060000	0.40578	-0.136000	0.14681	GTC		0.637	IRGC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336191.1	NM_019612		7	51	0	0	0	1	0	7	51					A	44223536	G	A	44223536	3	1	286	1	0	0	0	0	1	0	0	0	7838	1145	40	1	828	1	IRGC	19	44223536	Missense_Mutation	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	2523073	44223536	14905447	623	13753											
ZNF180	7733	broad.mit.edu	37	chr19	44981521	44981521	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgggaaacaaggtgcgagcTccggctgaaggattttccac	11	8	13	9	2	0	1	0	1	0	0	2	4	2	3	2	4	3	2	2	4	3	2			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr19:44981521T>C	ENST00000221327.4	-	5	1458	c.1177A>G	c.(1177-1179)Agc>Ggc	p.S393G	AC069278.4_ENST00000591684.1_lincRNA|ZNF180_ENST00000585514.1_5'Flank|ZNF180_ENST00000391956.4_Missense_Mutation_p.S368G|ZNF180_ENST00000592529.1_Missense_Mutation_p.S366G	NM_013256.3	NP_037388.2	Q9UJW8	ZN180_HUMAN	zinc finger protein 180	393					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(14)|lung(6)|ovary(2)|urinary_tract(1)	33		Prostate(69;0.0435)				AGGTGCGAGCTCCGGCTGAAG	0.453																																					Esophageal Squamous(180;1353 2003 32862 46574 49854)	ENST00000221327.4																			0				NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(14)|lung(6)|ovary(2)|urinary_tract(1)	33						c.(1177-1179)Agc>Ggc		zinc finger protein 180							67	69	68					19																	44981521		2203	4300	6503	SO:0001583	missense	7733				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44981521T>C	AF192913	CCDS12639.1, CCDS62707.1, CCDS62708.1	19q13.2	2013-01-08	2006-08-22			ENSG00000167384		"Zinc fingers, C2H2-type", "-"	12970	protein-coding gene	gene with protein product		606740	"zinc finger protein 180 (HHZ168)"				Standard	NM_001288762		Approved	HHZ168	uc002ozf.4	Q9UJW8		ENST00000221327.4:c.1177A>G	19.37:g.44981521T>C	ENSP00000221327:p.Ser393Gly					ZNF180_ENST00000391956.4_Missense_Mutation_p.S368G|ZNF180_ENST00000592529.1_Missense_Mutation_p.S366G	p.S393G	NM_013256.3	NP_037388.2	Q9UJW8	ZN180_HUMAN			5	1458	-		Prostate(69;0.0435)	393					B2RCN6|B3KV56|K7EQX9|Q58F03|Q9P1U2	Missense_Mutation	SNP	ENST00000221327.4	37	c.1177A>G	CCDS12639.1	.	.	.	.	.	.	.	.	.	.	T	7.741	0.701367	0.15172	.	.	ENSG00000167384	ENST00000221327;ENST00000391956	T;T	0.01192	5.2;5.2	5.47	5.47	0.80525	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.50627	D	0.000112	T	0.02047	0.0064	M	0.69523	2.12	0.28354	N	0.920758	B;B;B	0.27416	0.178;0.111;0.111	B;B;B	0.17722	0.019;0.008;0.008	T	0.32268	-0.9913	10	0.21540	T	0.41	-7.9646	14.5283	0.67905	0.0:0.0:0.0:1.0	.	368;392;393	G5E9B8;Q58F03;Q9UJW8	.;.;ZN180_HUMAN	G	393;368	ENSP00000221327:S393G;ENSP00000375818:S368G	ENSP00000221327:S393G	S	-	1	0	ZNF180	49673361	0.000000	0.05858	0.999000	0.59377	0.003000	0.03518	0.297000	0.19101	2.059000	0.61396	0.533000	0.62120	AGC		0.453	ZNF180-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000451601.1	NM_013256		5	46	0	0	0	1	0	5	46					C	44981521	T	C	44981521	3	2	286	1	0	0	0	0	1	0	0	0	17745	1551	54	4	905	4	ZNF180	19	44981521	Missense_Mutation	SNP	T	TCGA-J9-A52C-01A-11D-A26M-08	757985	44981521	14147462	624	13754											
PPP1R13L	10848	broad.mit.edu	37	chr19	45888875	45888875	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cggtaagggtcgcacttctcGaaggcggtggcgccgtcgct	5	8	16	12	7	1	0	0	0	1	0	4	1	1	0	1	5	0	3	1	5	2	2			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr19:45888875G>A	ENST00000418234.2	-	11	2271	c.2193C>T	c.(2191-2193)ttC>ttT	p.F731F	PPP1R13L_ENST00000360957.5_Silent_p.F731F	NM_001142502.1	NP_001135974.1	Q8WUF5	IASPP_HUMAN	protein phosphatase 1, regulatory subunit 13 like	731					apoptotic process (GO:0006915)|cardiac muscle contraction (GO:0060048)|cardiac right ventricle morphogenesis (GO:0003215)|embryonic camera-type eye development (GO:0031076)|hair cycle (GO:0042633)|multicellular organism growth (GO:0035264)|multicellular organismal homeostasis (GO:0048871)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|post-embryonic development (GO:0009791)|transcription, DNA-templated (GO:0006351)|ventricular cardiac muscle tissue development (GO:0003229)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	identical protein binding (GO:0042802)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			breast(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0182)		CGCACTTCTCGAAGGCGGTGG	0.677																																					Pancreas(61;1447 1663 31419 50578)	ENST00000418234.2																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						c.(2191-2193)ttC>ttT		protein phosphatase 1, regulatory subunit 13 like							51	42	45					19																	45888875		2200	4299	6499	SO:0001819	synonymous_variant	10848				apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	transcription corepressor activity|transcription factor binding	g.chr19:45888875G>A	AF078036	CCDS33050.1	19q13.32	2013-01-10	2011-10-04		ENSG00000104881	ENSG00000104881		"Ankyrin repeat domain containing"	18838	protein-coding gene	gene with protein product		607463	"protein phosphatase 1, regulatory (inhibitor) subunit 13 like"			10336463	Standard	NM_006663		Approved	RAI, IASPP	uc002pbo.3	Q8WUF5		ENST00000418234.2:c.2193C>T	19.37:g.45888875G>A						PPP1R13L_ENST00000360957.5_Silent_p.F731F	p.F731F	NM_001142502.1	NP_001135974.1	Q8WUF5	IASPP_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0182)	11	2271	-		all_neural(266;0.224)|Ovarian(192;0.231)	731					Q2PNZ9|Q5DU71|Q5I1X4|Q6P1R7|Q6PKF8|Q9Y290	Silent	SNP	ENST00000418234.2	37	c.2193C>T	CCDS33050.1																																																																																				0.677	PPP1R13L-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457586.1	NM_006663		7	36	0	0	0	1	0	7	36					A	45888875	G	A	45888875	2	1	286	1	0	0	0	0	0	0	0	1	12358	1049	37	2		2	PPP1R13L	19	45888875	Silent	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	907354	45888875	13240108	625	13755											
PPP1R13L	10848	broad.mit.edu	37	chr19	45895240	45895240	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgccctggcctcagatccCtcagtgatgggggacagctc	6	8	12	15	0	2	2	2	1	0	1	4	3	3	3	4	3	2	1	4	3	0	0			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr19:45895240C>A	ENST00000418234.2	-	8	1791	c.1713G>T	c.(1711-1713)gaG>gaT	p.E571D	PPP1R13L_ENST00000360957.5_Missense_Mutation_p.E571D	NM_001142502.1	NP_001135974.1	Q8WUF5	IASPP_HUMAN	protein phosphatase 1, regulatory subunit 13 like	571	Pro-rich.				apoptotic process (GO:0006915)|cardiac muscle contraction (GO:0060048)|cardiac right ventricle morphogenesis (GO:0003215)|embryonic camera-type eye development (GO:0031076)|hair cycle (GO:0042633)|multicellular organism growth (GO:0035264)|multicellular organismal homeostasis (GO:0048871)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|post-embryonic development (GO:0009791)|transcription, DNA-templated (GO:0006351)|ventricular cardiac muscle tissue development (GO:0003229)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	identical protein binding (GO:0042802)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			breast(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0182)		CCTCAGATCCCTCAGTGATGG	0.692																																					Pancreas(61;1447 1663 31419 50578)	ENST00000418234.2																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						c.(1711-1713)gaG>gaT		protein phosphatase 1, regulatory subunit 13 like							30	37	34					19																	45895240		2197	4287	6484	SO:0001583	missense	10848				apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	transcription corepressor activity|transcription factor binding	g.chr19:45895240C>A	AF078036	CCDS33050.1	19q13.32	2013-01-10	2011-10-04		ENSG00000104881	ENSG00000104881		"Ankyrin repeat domain containing"	18838	protein-coding gene	gene with protein product		607463	"protein phosphatase 1, regulatory (inhibitor) subunit 13 like"			10336463	Standard	NM_006663		Approved	RAI, IASPP	uc002pbo.3	Q8WUF5		ENST00000418234.2:c.1713G>T	19.37:g.45895240C>A	ENSP00000403902:p.Glu571Asp					PPP1R13L_ENST00000360957.5_Missense_Mutation_p.E571D	p.E571D	NM_001142502.1	NP_001135974.1	Q8WUF5	IASPP_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0182)	8	1791	-		all_neural(266;0.224)|Ovarian(192;0.231)	571			Pro-rich.		Q2PNZ9|Q5DU71|Q5I1X4|Q6P1R7|Q6PKF8|Q9Y290	Missense_Mutation	SNP	ENST00000418234.2	37	c.1713G>T	CCDS33050.1	.	.	.	.	.	.	.	.	.	.	C	11.84	1.759449	0.31137	.	.	ENSG00000104881	ENST00000418234;ENST00000360957;ENST00000221478	T;T	0.58940	0.3;0.3	4.76	3.73	0.42828	Src homology-3 domain (1);	0.278658	0.30320	N	0.009884	T	0.32376	0.0827	N	0.08118	0	0.44927	D	0.997948	B;B	0.29862	0.259;0.107	B;B	0.25884	0.064;0.021	T	0.12451	-1.0547	10	0.33141	T	0.24	.	8.7496	0.34607	0.0:0.8974:0.0:0.1026	.	571;150	Q8WUF5;A7YME7	IASPP_HUMAN;.	D	571;571;145	ENSP00000403902:E571D;ENSP00000354218:E571D	ENSP00000221478:E145D	E	-	3	2	PPP1R13L	50587080	0.931000	0.31567	0.984000	0.44739	0.636000	0.38137	0.051000	0.14141	1.239000	0.43787	0.456000	0.33151	GAG		0.692	PPP1R13L-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457586.1	NM_006663		10	48	1	0	4.68919e-08	1	4.78798e-08	10	48					A	45895240	C	A	45895240	3	1	286	1	0	0	0	0	1	0	0	0	12358	680	24	5	797	5	PPP1R13L	19	45895240	Missense_Mutation	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	6365	45895240	13233743	626	13756											
ARHGAP35	2909	broad.mit.edu	37	chr19	47424502	47424502	+	Frame_Shift_Del	DEL	T	T	-																															gttggttcatgggtacattgTtttttattcagccaaacgta																										TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr19:47424502delT	ENST00000404338.3	+	1	2570	c.2570delT	c.(2569-2571)gttfs	p.V857fs		NM_004491.4	NP_004482.4	Q9NRY4	RHG35_HUMAN	Rho GTPase activating protein 35	857					axon guidance (GO:0007411)|camera-type eye development (GO:0043010)|forebrain development (GO:0030900)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of vascular permeability (GO:0043116)|neural tube closure (GO:0001843)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|transcription, DNA-templated (GO:0006351)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|nucleus (GO:0005634)	DNA binding (GO:0003677)|GTP binding (GO:0005525)|Rho GTPase activator activity (GO:0005100)|transcription corepressor activity (GO:0003714)										GGGTACATTGTTTTTTATTCA	0.433																																						ENST00000404338.3																			0											c.(2569-2571)gtfs		Rho GTPase activating protein 35							167	162	163					19																	47424502		1897	4121	6018	SO:0001589	frameshift_variant	2909				axon guidance|negative regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent	cytosol	DNA binding|Rho GTPase activator activity|transcription corepressor activity	g.chr19:47424502delT	M73077	CCDS46127.1	19q13.32	2011-06-29	2011-06-07	2011-06-07	ENSG00000160007	ENSG00000160007		"Rho GTPase activating proteins"	4591	protein-coding gene	gene with protein product		605277	"glucocorticoid receptor DNA binding factor 1"	GRLF1		1894621, 20675588	Standard	NM_004491		Approved	GRF-1, p190ARhoGAP, P190A, KIAA1722, p190RhoGAP	uc010ekv.3	Q9NRY4		ENST00000404338.3:c.2570delT	19.37:g.47424502delT	ENSP00000385720:p.Val857fs						p.V857fs	NM_004491.4	NP_004482.4	Q9NRY4	RHG35_HUMAN			1	2570	+			857					A7E2A4|Q14452|Q9C0E1	Frame_Shift_Del	DEL	ENST00000404338.3	37	c.2570delT	CCDS46127.1																																																																																				0.433	ARHGAP35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466652.1	NM_004491		13	71						13	71	---	---	---	---	-	47424502	T	-	47424502	7	5	286	1	0	1	0	1	0	0	0	0	6795	1725	60	0	2572	0	ARHGAP35	19	47424502	Frame_Shift_Del	DEL	T	TCGA-J9-A52C-01A-11D-A26M-08	1529262	47424502	11704481	627	13757											
CCDC114	93233	broad.mit.edu	37	chr19	48801323	48801323	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccaggctctggcccagcactAggagggcagcgtcggccagg	7	4	16	14	2	1	0	0	0	1	0	2	1	1	1	3	6	2	3	3	6	1	1			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr19:48801323A>G	ENST00000315396.7	-	12	2007	c.1325T>C	c.(1324-1326)cTa>cCa	p.L442P		NM_144577.3	NP_653178.3	Q96M63	CC114_HUMAN	coiled-coil domain containing 114	442					outer dynein arm assembly (GO:0036158)	cilium (GO:0005929)|outer dynein arm (GO:0036157)				cervix(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|stomach(1)	24		all_epithelial(76;9.64e-05)|all_lung(116;0.000147)|Lung NSC(112;0.000251)|Prostate(7;0.0187)|all_neural(266;0.0228)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000162)|Epithelial(262;0.0134)|GBM - Glioblastoma multiforme(486;0.0143)		GCCCAGCACTAGGAGGGCAGC	0.692																																						ENST00000315396.7																			0				cervix(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|stomach(1)	24						c.(1324-1326)cTa>cCa		coiled-coil domain containing 114							42	43	43					19																	48801323		2203	4300	6503	SO:0001583	missense	93233							g.chr19:48801323A>G	BC025752	CCDS12714.2	19q13.32	2013-02-22			ENSG00000105479	ENSG00000105479			26560	protein-coding gene	gene with protein product		615038				23261302, 23261303	Standard	NM_144577		Approved	FLJ32926, CILD20	uc002pir.2	Q96M63	OTTHUMG00000156161	ENST00000315396.7:c.1325T>C	19.37:g.48801323A>G	ENSP00000318429:p.Leu442Pro						p.L442P	NM_144577.3	NP_653178.3	Q96M63	CC114_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000162)|Epithelial(262;0.0134)|GBM - Glioblastoma multiforme(486;0.0143)	12	2007	-		all_epithelial(76;9.64e-05)|all_lung(116;0.000147)|Lung NSC(112;0.000251)|Prostate(7;0.0187)|all_neural(266;0.0228)|Ovarian(192;0.113)	442					Q6ZRL4|Q96M06|Q9UFG8	Missense_Mutation	SNP	ENST00000315396.7	37	c.1325T>C	CCDS12714.2	.	.	.	.	.	.	.	.	.	.	A	13.91	2.376966	0.42105	.	.	ENSG00000105479	ENST00000315396	T	0.21734	1.99	3.39	3.39	0.38822	.	.	.	.	.	T	0.28699	0.0711	L	0.32530	0.975	0.26234	N	0.978966	D;D	0.69078	0.997;0.99	P;P	0.62184	0.899;0.836	T	0.04242	-1.0966	9	0.44086	T	0.13	-7.1742	8.4895	0.33091	1.0:0.0:0.0:0.0	.	442;442	Q96M63;Q96M63-5	CC114_HUMAN;.	P	442	ENSP00000318429:L442P	ENSP00000318429:L442P	L	-	2	0	CCDC114	53493135	0.003000	0.15002	0.028000	0.17463	0.007000	0.05969	1.147000	0.31602	1.774000	0.52232	0.533000	0.62120	CTA		0.692	CCDC114-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343207.1	NM_144577		15	57	0	0	0	1	0	15	57					G	48801323	A	G	48801323	3	3	286	1	0	0	0	0	1	0	0	0	2751	420	15	4	699	4	CCDC114	19	48801323	Missense_Mutation	SNP	A	TCGA-J9-A52C-01A-11D-A26M-08	1376821	48801323	10327660	628	13758											
CYTH2	9266	broad.mit.edu	37	chr19	48977182	48977182	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagtttctatggagctttcGcctacccggagaggcccaga	8	9	12	12	2	1	2	0	0	1	2	2	4	1	3	3	3	2	3	3	3	2	4			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr19:48977182G>A	ENST00000452733.2	+	6	931	c.455G>A	c.(454-456)cGc>cAc	p.R152H	CYTH2_ENST00000427476.1_Missense_Mutation_p.R152H			Q99418	CYH2_HUMAN	cytohesin 2	152	SEC7. {ECO:0000255|PROSITE- ProRule:PRU00189}.				actin cytoskeleton organization (GO:0030036)|endocytosis (GO:0006897)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)|regulation of cell adhesion (GO:0030155)	cytoplasm (GO:0005737)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|inositol 1,4,5 trisphosphate binding (GO:0070679)|lipid binding (GO:0008289)			endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15						TGGAGCTTTCGCCTACCCGGA	0.612																																						ENST00000427476.1																			0				endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15						c.(454-456)cGc>cAc		cytohesin 2							46	45	45					19																	48977182		2203	4300	6503	SO:0001583	missense	9266				actin cytoskeleton organization|endocytosis|regulation of ARF protein signal transduction|regulation of cell adhesion	cytoplasm|membrane fraction|plasma membrane	ARF guanyl-nucleotide exchange factor activity|protein binding	g.chr19:48977182G>A	X99753	CCDS12722.1	19q13.32	2014-05-02	2008-08-14	2008-08-14	ENSG00000105443	ENSG00000105443		"Pleckstrin homology (PH) domain containing"	9502	protein-coding gene	gene with protein product		602488	"pleckstrin homology, Sec7 and coiled/coil domains 2 (cytohesin-2)", "pleckstrin homology, Sec7 and coiled-coil domains 2"	PSCD2L, PSCD2		8706128, 8945478, 20525696	Standard	NM_004228		Approved	CTS18.1, Sec7p-L, ARNO, Sec7p-like, cytohesin-2	uc002pjj.4	Q99418	OTTHUMG00000150245	ENST00000452733.2:c.455G>A	19.37:g.48977182G>A	ENSP00000408236:p.Arg152His					CYTH2_ENST00000452733.2_Missense_Mutation_p.R152H	p.R152H	NM_004228.6|NM_017457.5	NP_004219.3|NP_059431.1	Q99418	CYH2_HUMAN			6	755	+			152			SEC7.		A8K8P0|Q8IXY9|Q92958	Missense_Mutation	SNP	ENST00000452733.2	37	c.455G>A	CCDS12722.1	.	.	.	.	.	.	.	.	.	.	G	29.2	4.982006	0.93044	.	.	ENSG00000105443	ENST00000452733;ENST00000427476;ENST00000325139	T;T;T	0.58210	0.35;0.35;0.35	3.92	3.92	0.45320	.	0.058137	0.64402	D	0.000001	T	0.73976	0.3656	M	0.86953	2.85	0.80722	D	1	D	0.89917	1.0	D	0.69824	0.966	T	0.80004	-0.1564	10	0.87932	D	0	.	13.8297	0.63373	0.0:0.0:1.0:0.0	.	152	Q99418-2	.	H	152;152;174	ENSP00000408236:R152H;ENSP00000391648:R152H;ENSP00000314566:R174H	ENSP00000314566:R174H	R	+	2	0	CYTH2	53668994	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	9.648000	0.98483	2.179000	0.69175	0.561000	0.74099	CGC		0.612	CYTH2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317060.1	NM_004228		9	33	0	0	0	1	0	9	33					A	48977182	G	A	48977182	3	1	286	1	0	0	0	0	1	0	0	0	4204	1087	38	1	477	1	CYTH2	19	48977182	Missense_Mutation	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	175859	48977182	10151801	629	13759											
CPT1C	126129	broad.mit.edu	37	chr19	50208490	50208490	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gactttgctgatgggaatgcGccccttatgctctgcccagt	6	12	11	12	1	1	1	0	1	1	0	1	3	1	2	3	1	4	2	3	1	2	2			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr19:50208490G>A	ENST00000392518.4	+	10	1271	c.899G>A	c.(898-900)cGc>cAc	p.R300H	CPT1C_ENST00000354199.5_Missense_Mutation_p.R300H|CPT1C_ENST00000598293.1_Missense_Mutation_p.R300H|CPT1C_ENST00000323446.5_Missense_Mutation_p.R300H|CPT1C_ENST00000405931.2_Missense_Mutation_p.R289H	NM_001199752.1	NP_001186681.1	Q8TCG5	CPT1C_HUMAN	carnitine palmitoyltransferase 1C	300					carnitine metabolic process (GO:0009437)|fatty acid beta-oxidation (GO:0006635)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|endoplasmic reticulum membrane (GO:0005789)|mitochondrial outer membrane (GO:0005741)|synapse (GO:0045202)	carnitine O-palmitoyltransferase activity (GO:0004095)			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.00786)		ATGGGAATGCGCCCCTTATGC	0.587																																						ENST00000392518.4																			0				breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(898-900)cGc>cAc		carnitine palmitoyltransferase 1C							158	144	149					19																	50208490		2203	4300	6503	SO:0001583	missense	126129				fatty acid metabolic process	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity	g.chr19:50208490G>A	AF357970	CCDS12779.1, CCDS46147.1	19q13.33	2014-03-14				ENSG00000169169			18540	protein-coding gene	gene with protein product		608846				12376098, 11001805	Standard	NM_001136052		Approved	FLJ23809, CPTIC, CPT1P	uc010eng.3	Q8TCG5		ENST00000392518.4:c.899G>A	19.37:g.50208490G>A	ENSP00000376303:p.Arg300His					CPT1C_ENST00000354199.5_Missense_Mutation_p.R300H|CPT1C_ENST00000598293.1_Missense_Mutation_p.R300H|CPT1C_ENST00000405931.2_Missense_Mutation_p.R289H|CPT1C_ENST00000323446.5_Missense_Mutation_p.R300H	p.R300H	NM_001199752.1	NP_001186681.1	Q8TCG5	CPT1C_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.00786)	10	1271	+		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)	300					A8K0Z8|Q5K6N5|Q8N6Q9|Q8NDS6|Q8TE84	Missense_Mutation	SNP	ENST00000392518.4	37	c.899G>A	CCDS12779.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.042169	0.75732	.	.	ENSG00000169169	ENST00000392518;ENST00000354199;ENST00000405931;ENST00000323446;ENST00000295404	D;D;D;D	0.89050	-2.46;-2.46;-2.46;-2.46	4.34	4.34	0.51931	.	0.000000	0.48767	D	0.000176	D	0.87418	0.6172	N	0.12569	0.235	0.28575	N	0.910444	P;D;D;P	0.76494	0.838;0.999;0.987;0.888	P;D;P;P	0.66196	0.49;0.942;0.616;0.806	T	0.82561	-0.0396	10	0.87932	D	0	-25.342	12.2071	0.54358	0.0:0.0:1.0:0.0	.	171;300;289;300	C9IY45;Q8TCG5-3;Q8TCG5-2;Q8TCG5	.;.;.;CPT1C_HUMAN	H	300;300;289;300;171	ENSP00000376303:R300H;ENSP00000346138:R300H;ENSP00000384465:R289H;ENSP00000319343:R300H	ENSP00000295404:R171H	R	+	2	0	CPT1C	54900302	0.948000	0.32251	0.777000	0.31699	0.956000	0.61745	-0.232000	0.09055	2.260000	0.74910	0.561000	0.74099	CGC		0.587	CPT1C-008	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465873.1	NM_152359		20	98	0	0	0	1	0	20	98					A	50208490	G	A	50208490	3	1	286	1	0	0	0	0	1	0	0	0	3833	1087	38	1	929	1	CPT1C	19	50208490	Missense_Mutation	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	1231308	50208490	8920493	630	13760											
KLK15	55554	broad.mit.edu	37	chr19	51329944	51329944	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgtttgtcaggcgccctgggTagctcttgtcacaagatgtg	6	13	13	9	1	3	1	2	0	1	1	3	1	3	1	1	2	1	3	1	2	2	3			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr19:51329944T>C	ENST00000598239.1	-	4	581	c.551A>G	c.(550-552)tAc>tGc	p.Y184C	KLK15_ENST00000326856.4_Missense_Mutation_p.Y183C|KLK15_ENST00000596931.1_Intron|KLK1_ENST00000301420.2_5'Flank|KLK15_ENST00000416184.1_Intron|KLK1_ENST00000448701.2_5'Flank|KLK15_ENST00000301421.2_Intron	NM_017509.2	NP_059979.2	Q9H2R5	KLK15_HUMAN	kallikrein-related peptidase 15	184	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(12)|skin(2)|upper_aerodigestive_tract(1)	24		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00758)|GBM - Glioblastoma multiforme(134;0.0143)		GCGCCCTGGGTAGCTCTTGTC	0.567																																					Pancreas(140;10 2513 7143 9246)	ENST00000326856.4																			0				breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(12)|skin(2)|upper_aerodigestive_tract(1)	24						c.(547-549)tAc>tGc		kallikrein-related peptidase 15							123	114	117					19																	51329944		2203	4300	6503	SO:0001583	missense	55554				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr19:51329944T>C	AF242195	CCDS12805.1, CCDS12806.1, CCDS12806.2, CCDS62766.1	19q13.4	2008-02-05	2006-10-27			ENSG00000174562		"Kallikreins"	20453	protein-coding gene	gene with protein product		610601	"kallikrein 15"			11010966, 12439720, 16800724, 16800723	Standard	NM_017509		Approved	HSRNASPH, ACO, prostinogen	uc002ptl.3	Q9H2R5		ENST00000598239.1:c.551A>G	19.37:g.51329944T>C	ENSP00000469315:p.Tyr184Cys					KLK15_ENST00000596931.1_Intron|KLK15_ENST00000301421.2_Intron|KLK15_ENST00000598239.1_Missense_Mutation_p.Y184C|KLK15_ENST00000416184.1_Intron	p.Y183C	NM_001277081.1	NP_001264010.1	Q9H2R5	KLK15_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00758)|GBM - Glioblastoma multiforme(134;0.0143)	5	677	-		all_neural(266;0.057)	184			Peptidase S1.		A0AUY8|Q15358|Q6ISI0|Q9H2R3|Q9H2R4|Q9H2R6|Q9HBG9	Missense_Mutation	SNP	ENST00000598239.1	37	c.548A>G	CCDS12805.1	.	.	.	.	.	.	.	.	.	.	t	14.39	2.520040	0.44866	.	.	ENSG00000174562	ENST00000326856	.	.	.	4.52	4.52	0.55395	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.40818	N	0.001011	D	0.85864	0.5796	H	0.95402	3.665	0.80722	D	1	D;D	0.89917	0.991;1.0	D;D	0.85130	0.927;0.997	D	0.89297	0.3623	9	0.72032	D	0.01	.	12.1121	0.53846	0.0:0.0:0.0:1.0	.	183;184	Q6ISI0;Q9H2R5	.;KLK15_HUMAN	C	184	.	ENSP00000314783:Y184C	Y	-	2	0	KLK15	56021756	1.000000	0.71417	0.999000	0.59377	0.030000	0.12068	3.747000	0.55134	2.042000	0.60477	0.374000	0.22700	TAC		0.567	KLK15-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465160.1	NM_017509		19	79	0	0	0	1	0	19	79					C	51329944	T	C	51329944	3	2	286	1	0	0	0	0	1	0	0	0	8403	1638	57	4	227	4	KLK15	19	51329944	Missense_Mutation	SNP	T	TCGA-J9-A52C-01A-11D-A26M-08	1121454	51329944	7799039	631	13761											
SIGLEC9	27180	broad.mit.edu	37	chr19	51628275	51628275	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctctgggggagggagagggCggaaggacagacaagtaaac	13	3	19	6	1	1	2	0	0	1	2	1	6	1	5	0	6	1	2	0	6	4	1			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr19:51628275C>T	ENST00000250360.3	+	1	111	c.44C>T	c.(43-45)gCg>gTg	p.A15V	SIGLEC9_ENST00000440804.3_Missense_Mutation_p.A15V	NM_014441.2	NP_055256.1	Q9Y336	SIGL9_HUMAN	sialic acid binding Ig-like lectin 9	15					cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)	integral component of plasma membrane (GO:0005887)	carbohydrate binding (GO:0030246)			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(3)|lung(25)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	45		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.000826)|OV - Ovarian serous cystadenocarcinoma(262;0.00295)		AGGGAGAGGGCGGAAGGACAG	0.612																																						ENST00000440804.3																			0				NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(3)|lung(25)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	45						c.(43-45)gCg>gTg		sialic acid binding Ig-like lectin 9							110	75	87					19																	51628275		2203	4300	6503	SO:0001583	missense	27180				cell adhesion|cell surface receptor linked signaling pathway	integral to plasma membrane	sugar binding	g.chr19:51628275C>T	AF135027	CCDS12825.1, CCDS56100.1	19q13.3-q13.4	2013-01-29			ENSG00000129450	ENSG00000129450		"Sialic acid binding Ig-like lectins", "CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	10878	protein-coding gene	gene with protein product		605640				10903842	Standard	NM_014441		Approved	CD329	uc002pvu.3	Q9Y336		ENST00000250360.3:c.44C>T	19.37:g.51628275C>T	ENSP00000250360:p.Ala15Val					SIGLEC9_ENST00000250360.3_Missense_Mutation_p.A15V	p.A15V	NM_001198558.1	NP_001185487.1	Q9Y336	SIGL9_HUMAN		GBM - Glioblastoma multiforme(134;0.000826)|OV - Ovarian serous cystadenocarcinoma(262;0.00295)	1	111	+		all_neural(266;0.0529)	15					Q6GTU4|Q9BYI9	Missense_Mutation	SNP	ENST00000250360.3	37	c.44C>T	CCDS12825.1	.	.	.	.	.	.	.	.	.	.	.	7.102	0.574314	0.13623	.	.	ENSG00000129450	ENST00000440804;ENST00000250360	T;T	0.13196	2.61;2.84	2.86	-3.42	0.04825	.	48.201700	0.00166	N	0.000000	T	0.11324	0.0276	L	0.45581	1.43	0.09310	N	1	B	0.10296	0.003	B	0.06405	0.002	T	0.23868	-1.0176	10	0.14656	T	0.56	.	4.9601	0.14061	0.1552:0.5823:0.0:0.2625	.	15	Q9Y336	SIGL9_HUMAN	V	15	ENSP00000413861:A15V;ENSP00000250360:A15V	ENSP00000250360:A15V	A	+	2	0	SIGLEC9	56320087	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.299000	0.08254	-0.786000	0.04516	-1.395000	0.01148	GCG		0.612	SIGLEC9-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000464224.1	NM_014441		7	36	0	0	0	1	0	7	36					T	51628275	C	T	51628275	3	4	286	1	0	0	0	0	1	0	0	0	14315	768	27	1	46	1	SIGLEC9	19	51628275	Missense_Mutation	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	298331	51628275	7500708	632	13762											
LIM2	3982	broad.mit.edu	37	chr19	51890427	51890427	+	Intron	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tccctttccctctttgagccGcagagttctccatctggaat	6	14	7	14	1	3	2	0	1	3	1	6	3	5	3	4	1	1	2	4	1	1	3			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr19:51890427G>A	ENST00000596399.1	-	2	223				LIM2_ENST00000221973.3_Missense_Mutation_p.R91W	NM_001161748.1	NP_001155220.1	P55344	LMIP_HUMAN	lens intrinsic membrane protein 2, 19kDa						cell-cell junction assembly (GO:0007043)|lens development in camera-type eye (GO:0002088)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	structural constituent of eye lens (GO:0005212)			endometrium(1)|large_intestine(3)|lung(2)|skin(1)	7		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.000214)|OV - Ovarian serous cystadenocarcinoma(262;0.00985)		tctttgagccgcagagttctc	0.622																																						ENST00000221973.3																			0				endometrium(1)|large_intestine(3)|lung(2)|skin(1)	7						c.(271-273)Cgg>Tgg		lens intrinsic membrane protein 2, 19kDa							49	43	45					19																	51890427		2203	4300	6503	SO:0001627	intron_variant	3982				cell-cell junction assembly	cell junction|integral to membrane	structural constituent of eye lens	g.chr19:51890427G>A		CCDS12831.1, CCDS59415.1	19q13.4	2008-07-17	2002-08-29			ENSG00000105370			6610	protein-coding gene	gene with protein product		154045	"lens intrinsic membrane protein 2 (19kD)"			1606837	Standard	NM_030657		Approved	MP19, MP17	uc002pwl.2	P55344		ENST00000596399.1:c.175+95C>T	19.37:g.51890427G>A						LIM2_ENST00000596399.1_Intron	p.R91W	NM_030657.3	NP_085915.2	P55344	LMIP_HUMAN		GBM - Glioblastoma multiforme(134;0.000214)|OV - Ovarian serous cystadenocarcinoma(262;0.00985)	2	313	-		all_neural(266;0.0529)	58					Q6B083|Q9BXD0|Q9HAR5	Missense_Mutation	SNP	ENST00000596399.1	37	c.271C>T	CCDS59415.1	.	.	.	.	.	.	.	.	.	.	G	11.49	1.655382	0.29425	.	.	ENSG00000105370	ENST00000221973	.	.	.	3.97	-1.24	0.09435	.	4.661830	0.01204	N	0.007660	T	0.22244	0.0536	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.16630	-1.0396	8	0.44086	T	0.13	.	0.2938	0.00262	0.3344:0.2049:0.261:0.1997	.	91	P55344-2	.	W	91	.	ENSP00000221973:R91W	R	-	1	2	LIM2	56582239	0.003000	0.15002	0.006000	0.13384	0.425000	0.31504	-0.084000	0.11268	0.054000	0.16065	-0.302000	0.09304	CGG		0.622	LIM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464247.1	NM_030657		4	15	0	0	0	1	0	4	15					A	51890427	G	A	51890427	1	1	286	0	1	0	0	0	0	0	0	0	8795	1086	38	1		1	LIM2	19	51890427	Intron	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	262152	51890427	7238556	633	13763											
SIGLEC6	946	broad.mit.edu	37	chr19	52034107	52034107	+	Frame_Shift_Del	DEL	G	G	-																															gctgacatccaggagaagatGgggggcgtcccctgctcaca																										TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr19:52034107delG	ENST00000425629.3	-	3	688	c.534delC	c.(532-534)cccfs	p.P178fs	SIGLEC6_ENST00000346477.3_Frame_Shift_Del_p.P178fs|SIGLEC6_ENST00000474054.1_5'Flank|SIGLEC6_ENST00000359982.4_Frame_Shift_Del_p.P178fs|SIGLEC6_ENST00000436458.1_Frame_Shift_Del_p.P142fs|SIGLEC6_ENST00000343300.4_Frame_Shift_Del_p.P178fs|SIGLEC6_ENST00000391797.3_Frame_Shift_Del_p.P167fs	NM_001245.5	NP_001236.4	O43699	SIGL6_HUMAN	sialic acid binding Ig-like lectin 6	178	Ig-like C2-type 1.				cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)			endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(15)|ovary(1)|stomach(1)	28		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00115)|OV - Ovarian serous cystadenocarcinoma(262;0.0165)		AGGAGAAGATGGGGGGCGTCC	0.662																																						ENST00000346477.3																			0				endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(15)|ovary(1)|stomach(1)	28						c.(532-534)ccfs		sialic acid binding Ig-like lectin 6							70	74	73					19																	52034107		2203	4300	6503	SO:0001589	frameshift_variant	946				cell adhesion|cell-cell signaling	cytoplasm|extracellular region|integral to plasma membrane|membrane fraction|nucleus		g.chr19:52034107delG	D86358	CCDS12834.3, CCDS12835.3, CCDS12836.3, CCDS54307.1, CCDS54308.1, CCDS59417.1	19q13.3	2013-01-29			ENSG00000105492	ENSG00000105492		"Sialic acid binding Ig-like lectins", "CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	10875	protein-coding gene	gene with protein product		604405		CD33L, CD33L1		9465907	Standard	NM_001245		Approved	OB-BP1, SIGLEC-6, CD327	uc002pwy.3	O43699	OTTHUMG00000133571	ENST00000425629.3:c.534delC	19.37:g.52034107delG	ENSP00000401502:p.Pro178fs					SIGLEC6_ENST00000425629.3_Frame_Shift_Del_p.P178fs|SIGLEC6_ENST00000391797.3_Frame_Shift_Del_p.P167fs|SIGLEC6_ENST00000359982.4_Frame_Shift_Del_p.P178fs|SIGLEC6_ENST00000343300.4_Frame_Shift_Del_p.P178fs|SIGLEC6_ENST00000436458.1_Frame_Shift_Del_p.P142fs	p.P178fs	NM_198845.4	NP_942142.3	O43699	SIGL6_HUMAN		GBM - Glioblastoma multiforme(134;0.00115)|OV - Ovarian serous cystadenocarcinoma(262;0.0165)	3	602	-		all_neural(266;0.0199)	178			Ig-like C2-type 1.		A8MV71|B2RTS8|C9JBE5|F8WA78|O15388|O43700	Frame_Shift_Del	DEL	ENST00000425629.3	37	c.534delC	CCDS12834.3																																																																																				0.662	SIGLEC6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257670.3	NM_001245		18	103						18	103	---	---	---	---	-	52034107	G	-	52034107	7	5	286	1	0	1	0	1	0	0	0	0	14312	1335	47	0	884	0	SIGLEC6	19	52034107	Frame_Shift_Del	DEL	G	TCGA-J9-A52C-01A-11D-A26M-08	143680	52034107	7094876	634	13764											
ZNF175	7728	broad.mit.edu	37	chr19	52091407	52091408	+	Frame_Shift_Del	DEL	CT	CT	-																															tttccataaacatcaaataaCtcacactagagagaggcctt																										TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr19:52091407_52091408delCT	ENST00000262259.2	+	5	2181_2182	c.1823_1824delCT	c.(1822-1824)actfs	p.T608fs	ZNF175_ENST00000436511.2_Intron	NM_007147.2	NP_009078.1	Q9Y473	ZN175_HUMAN	zinc finger protein 175	608					defense response to virus (GO:0051607)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24		all_neural(266;0.0299)		GBM - Glioblastoma multiforme(134;0.000426)|OV - Ovarian serous cystadenocarcinoma(262;0.0257)		CATCAAATAACTCACACTAGAG	0.436																																						ENST00000262259.2																			0				NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24						c.(1822-1824)afs		zinc finger protein 175																																				SO:0001589	frameshift_variant	7728				response to virus	cytoplasm|intermediate filament cytoskeleton|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:52091407_52091408delCT	D50419	CCDS12837.1	19q13.4	2013-01-08			ENSG00000105497	ENSG00000105497		"Zinc fingers, C2H2-type", "-"	12964	protein-coding gene	gene with protein product		601139				8838321	Standard	NM_007147		Approved	OTK18	uc002pxb.3	Q9Y473	OTTHUMG00000167771	ENST00000262259.2:c.1823_1824delCT	19.37:g.52091407_52091408delCT	ENSP00000262259:p.Thr608fs					ZNF175_ENST00000436511.2_Intron	p.T608fs	NM_007147.2	NP_009078.1	Q9Y473	ZN175_HUMAN		GBM - Glioblastoma multiforme(134;0.000426)|OV - Ovarian serous cystadenocarcinoma(262;0.0257)	5	2181_2182	+		all_neural(266;0.0299)	608					A8K9H2	Frame_Shift_Del	DEL	ENST00000262259.2	37	c.1823_1824delCT	CCDS12837.1																																																																																				0.436	ZNF175-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396205.1	NM_007147		17	122						17	122	---	---	---	---	-	52091408	CT	-	52091407	7	5	286	1	0	1	0	1	0	0	0	0	17742	565	20	0	1837	0	ZNF175	19	52091407	Frame_Shift_Del	DEL	CT	TCGA-J9-A52C-01A-11D-A26M-08	57300	52091407	7037576	635	13765											
ZNF880	400713	broad.mit.edu	37	chr19	52887682	52887682	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcactcaaaattctcacctTgcaaatcatcacagaatcca	15	11	2	13	0	5	1	5	0	1	1	7	1	6	1	2	0	1	1	2	0	4	3			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr19:52887682T>A	ENST00000422689.2	+	4	864	c.849T>A	c.(847-849)ctT>ctA	p.L283L		NM_001145434.1	NP_001138906.1	Q6PDB4	ZN880_HUMAN	zinc finger protein 880	283					regulation of transcription, DNA-templated (GO:0006355)	intracellular (GO:0005622)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(2)|skin(1)	10						ATTCTCACCTTGCAAATCATC	0.408																																						ENST00000422689.2																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(2)|skin(1)	10						c.(847-849)ctT>ctA		zinc finger protein 880							67	61	63					19																	52887682		1568	3582	5150	SO:0001819	synonymous_variant	400713				regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	g.chr19:52887682T>A	BC058819	CCDS46164.1	19q13.41	2013-01-08			ENSG00000221923	ENSG00000221923		"Zinc fingers, C2H2-type", "-"	37249	protein-coding gene	gene with protein product							Standard	NM_001145434		Approved		uc002pzc.3	Q6PDB4	OTTHUMG00000167972	ENST00000422689.2:c.849T>A	19.37:g.52887682T>A							p.L283L	NM_001145434.1	NP_001138906.1	Q6PDB4	ZN880_HUMAN			4	864	+			283					B4DNA6	Silent	SNP	ENST00000422689.2	37	c.849T>A	CCDS46164.1																																																																																				0.408	ZNF880-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397374.1	NM_001145434		5	19	0	0	0	1	0	5	19					A	52887682	T	A	52887682	2	1	286	1	0	0	0	0	0	0	0	1	18194	1799	63	5		5	ZNF880	19	52887682	Silent	SNP	T	TCGA-J9-A52C-01A-11D-A26M-08	796275	52887682	6241301	636	13766											
ZNF28	7576	broad.mit.edu	37	chr19	53303248	53303248	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttataagcgatgatgtctgaCggaaggtcttgccacactca	11	11	10	9	2	3	2	1	2	2	0	3	4	3	3	1	2	2	0	1	2	3	3	rs139889621	byFrequency	TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr19:53303248C>T	ENST00000457749.2	-	4	1969	c.1850G>A	c.(1849-1851)cGt>cAt	p.R617H	ZNF28_ENST00000414252.2_Missense_Mutation_p.R564H|ZNF28_ENST00000360272.4_Missense_Mutation_p.R564H|ZNF28_ENST00000438150.2_Missense_Mutation_p.R564H	NM_006969.3	NP_008900.3	P17035	ZNF28_HUMAN	zinc finger protein 28	617					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|liver(1)|lung(10)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(134;0.0386)|Lung(386;0.145)		TGATGTCTGACGGAAGGTCTT	0.463													-|||	3	0.000599042	0	0	5008	,	,		24121	0		0.002	False		,,,				2504	0.001					ENST00000438150.2																			0				breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|liver(1)|lung(10)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						c.(1690-1692)cGt>cAt		zinc finger protein 28		C	HIS/ARG	2,4404		0,2,2201	247	219	228		1850	-3.9	0	19	dbSNP_134	228	17,8583		0,17,4283	no	missense	ZNF28	NM_006969.3	29	0,19,6484	TT,TC,CC		0.1977,0.0454,0.1461	benign	617/719	53303248	19,12987	2203	4300	6503	SO:0001583	missense	7576				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53303248C>T	X52355	CCDS33093.1, CCDS33093.2	19q13.41	2013-01-08	2006-05-10		ENSG00000198538	ENSG00000198538		"Zinc fingers, C2H2-type", "-"	13073	protein-coding gene	gene with protein product			"zinc finger protein 28 (KOX 24)"				Standard	NR_036599		Approved	KOX24, DKFZp781D0275	uc002qad.3	P17035	OTTHUMG00000154564	ENST00000457749.2:c.1850G>A	19.37:g.53303248C>T	ENSP00000397693:p.Arg617His					ZNF28_ENST00000360272.4_Missense_Mutation_p.R564H|ZNF28_ENST00000414252.2_Missense_Mutation_p.R564H|ZNF28_ENST00000457749.2_Missense_Mutation_p.R617H	p.R564H			P17035	ZNF28_HUMAN		GBM - Glioblastoma multiforme(134;0.0386)|Lung(386;0.145)	2	2584	-			617					A8KAK9|B4E3G0|B9EIK7|Q5H9V1|Q5HYM9|Q6ZML9|Q6ZN56	Missense_Mutation	SNP	ENST00000457749.2	37	c.1691G>A	CCDS33093.2	.	.	.	.	.	.	.	.	.	.	-	8.064	0.768849	0.15983	4.54E-4	0.001977	ENSG00000198538	ENST00000438150;ENST00000457749;ENST00000360272;ENST00000414252	T;T;T;T	0.36157	1.27;1.27;1.27;1.27	1.94	-3.89	0.04193	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.20455	0.0492	L	0.31120	0.905	0.09310	N	1	B	0.13145	0.007	B	0.06405	0.002	T	0.10941	-1.0608	9	0.56958	D	0.05	.	2.7036	0.05156	0.1182:0.3518:0.3338:0.1962	.	617	P17035	ZNF28_HUMAN	H	564;617;564;564	ENSP00000412143:R564H;ENSP00000397693:R617H;ENSP00000353410:R564H;ENSP00000444965:R564H	ENSP00000353410:R564H	R	-	2	0	ZNF28	57995060	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-6.924000	0.00049	-2.486000	0.00520	-1.868000	0.00555	CGT		0.463	ZNF28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336038.2	NM_006969		21	137	0	0	0	1	0	21	137					T	53303248	C	T	53303248	3	4	286	1	0	0	0	0	1	0	0	0	17810	536	19	1	310	1	ZNF28	19	53303248	Missense_Mutation	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	415566	53303248	5825735	637	13767											
CACNG8	59283	broad.mit.edu	37	chr19	54466610	54466610	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccccccaccgcgggggcggcGgcgcctcggagaagaaggac	7	1	17	16	6	0	2	0	0	0	2	1	4	0	3	5	6	0	0	5	6	2	0			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr19:54466610G>A	ENST00000270458.2	+	1	317	c.214G>A	c.(214-216)Ggc>Agc	p.G72S		NM_031895.5	NP_114101	Q8WXS5	CCG8_HUMAN	calcium channel, voltage-dependent, gamma subunit 8	72					calcium ion transport (GO:0006816)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|synaptic transmission (GO:0007268)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|endocytic vesicle membrane (GO:0030666)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)			kidney(1)|large_intestine(3)|lung(8)|urinary_tract(1)	13	all_cancers(19;0.0385)|all_epithelial(19;0.0207)|all_lung(19;0.145)|Lung NSC(19;0.168)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.162)		CGGGGGCGGCGGCGCCTCGGA	0.726																																						ENST00000270458.2																			0				kidney(1)|large_intestine(3)|lung(8)|urinary_tract(1)	13						c.(214-216)Ggc>Agc		calcium channel, voltage-dependent, gamma subunit 8							11	13	12					19																	54466610		2177	4264	6441	SO:0001583	missense	59283				regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic density|postsynaptic membrane|voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr19:54466610G>A	AF288388	CCDS33104.1	19q13.4	2008-05-02			ENSG00000142408	ENSG00000142408		"Calcium channel subunits"	13628	protein-coding gene	gene with protein product		606900				11170751	Standard	NM_031895		Approved		uc002qcs.2	Q8WXS5	OTTHUMG00000064908	ENST00000270458.2:c.214G>A	19.37:g.54466610G>A	ENSP00000270458:p.Gly72Ser						p.G72S	NM_031895.5	NP_114101.4	Q8WXS5	CCG8_HUMAN		GBM - Glioblastoma multiforme(134;0.162)	1	317	+	all_cancers(19;0.0385)|all_epithelial(19;0.0207)|all_lung(19;0.145)|Lung NSC(19;0.168)|Ovarian(34;0.19)		72					Q9BXT0|Q9BY23	Missense_Mutation	SNP	ENST00000270458.2	37	c.214G>A	CCDS33104.1	.	.	.	.	.	.	.	.	.	.	G	9.905	1.207920	0.22205	.	.	ENSG00000142408	ENST00000270458	T	0.41400	1.0	2.92	0.68	0.17980	.	0.533778	0.16207	U	0.224671	T	0.20700	0.0498	N	0.14661	0.345	0.22424	N	0.999111	B	0.06786	0.001	B	0.10450	0.005	T	0.16100	-1.0414	9	0.25106	T	0.35	0.3108	5.3196	0.15874	0.4086:0.0:0.5914:0.0	.	72	Q8WXS5	CCG8_HUMAN	S	72	ENSP00000270458:G72S	ENSP00000270458:G72S	G	+	1	0	CACNG8	59158422	0.046000	0.20272	0.011000	0.14972	0.288000	0.27193	2.115000	0.41921	0.123000	0.18342	0.297000	0.19635	GGC		0.726	CACNG8-001	KNOWN	non_ATG_start|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139361.3			4	21	0	0	0	1	0	4	21					A	54466610	G	A	54466610	3	1	286	1	0	0	0	0	1	0	0	0	2563	1116	39	2	216	2	CACNG8	19	54466610	Missense_Mutation	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	1163362	54466610	4662373	638	13768											
LILRA2	11027	broad.mit.edu	37	chr19	55086796	55086796	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggggagagcctgaccctccaGtgtgtctctgatgtcggcta	6	10	14	11	1	1	3	0	2	1	1	4	4	2	3	3	3	1	1	3	3	1	1	rs148748826		TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr19:55086796G>A	ENST00000251377.3	+	6	862	c.729G>A	c.(727-729)caG>caA	p.Q243Q	LILRB1_ENST00000396321.2_Intron|LILRA2_ENST00000251376.3_Silent_p.Q243Q|LILRA2_ENST00000391738.3_Silent_p.Q243Q|LILRB1_ENST00000418536.2_Intron|LILRA2_ENST00000391737.1_Silent_p.Q231Q|LILRB1_ENST00000448689.1_Intron			Q8N149	LIRA2_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2	243	Ig-like C2-type 3.				defense response (GO:0006952)|immune system process (GO:0002376)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	antigen binding (GO:0003823)|receptor activity (GO:0004872)			breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(33)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50				GBM - Glioblastoma multiforme(193;0.0963)		TGACCCTCCAGTGTGTCTCTG	0.577																																						ENST00000251377.3																			0				breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(33)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50						c.(727-729)caG>caA		leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2							113	114	113					19																	55086796		2203	4300	6503	SO:0001819	synonymous_variant	0							g.chr19:55086796G>A	U82275	CCDS12900.1, CCDS46179.1, CCDS74453.1	19q13.4	2013-01-11			ENSG00000239998	ENSG00000239998		"Leukocyte immunoglobulin-like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6603	protein-coding gene	gene with protein product		604812				9079806, 9548455	Standard	XM_005258452		Approved	LIR-7, ILT1, CD85h, LIR7		Q8N149	OTTHUMG00000065703	ENST00000251377.3:c.729G>A	19.37:g.55086796G>A						LILRB1_ENST00000418536.2_Intron|LILRB1_ENST00000448689.1_Intron|LILRB1_ENST00000396321.2_Intron|LILRA2_ENST00000391737.1_Silent_p.Q231Q|LILRA2_ENST00000391738.3_Silent_p.Q243Q|LILRA2_ENST00000251376.3_Silent_p.Q243Q	p.Q243Q						GBM - Glioblastoma multiforme(193;0.0963)	6	862	+								O75020	Silent	SNP	ENST00000251377.3	37	c.729G>A	CCDS46179.1																																																																																				0.577	LILRA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000140813.2			15	94	0	0	0	1	0	15	94					A	55086796	G	A	55086796	2	1	286	1	0	0	0	0	0	0	0	1	8785	1020	36	3		3	LILRA2	19	55086796	Silent	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	620186	55086796	4042187	639	13769											
KIR3DL1	3811	broad.mit.edu	37	chr19	55341682	55341682	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acagataccatcttgtacacGgaacttccaaatgctaagcc	14	9	6	12	1	1	1	0	0	1	1	2	2	2	2	3	1	5	2	3	1	5	5	rs370004726	byFrequency	TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr19:55341682G>A	ENST00000391728.4	+	9	1320	c.1287G>A	c.(1285-1287)acG>acA	p.T429T	KIR2DS4_ENST00000339924.8_RNA|KIR3DL1_ENST00000541392.1_Silent_p.T412T|KIR3DL1_ENST00000402254.2_Intron|KIR3DL1_ENST00000358178.4_Silent_p.T334T|KIR3DL1_ENST00000538269.1_Silent_p.T429T|KIR3DL1_ENST00000326542.7_Silent_p.T412T	NM_013289.2	NP_037421.2	P43629	KI3L1_HUMAN	killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1	429					immune response (GO:0006955)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	HLA-B specific inhibitory MHC class I receptor activity (GO:0030109)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	11				GBM - Glioblastoma multiforme(193;0.0192)		TCTTGTACACGGAACTTCCAA	0.512													.|||	3	0.000599042	0	0	5008	,	,		15807	0.003		0	False		,,,				2504	0					ENST00000391728.4																			0				breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	11						c.(1285-1287)acG>acA		killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1							275	257	263					19																	55341682		2171	4172	6343	SO:0001819	synonymous_variant	3811							g.chr19:55341682G>A	L41269	CCDS42621.1	19q13.4	2014-05-22			ENSG00000167633	ENSG00000167633		"Killer cell immunoglobulin-like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6338	protein-coding gene	gene with protein product		604946		KIR		7716543, 7749980	Standard	NM_013289		Approved	cl-2, NKB1, cl-11, nkat3, NKB1B, AMB11, CD158e1/2, CD158E1, CD158e2		P43629	OTTHUMG00000065933	ENST00000391728.4:c.1287G>A	19.37:g.55341682G>A						KIR3DL1_ENST00000358178.4_Silent_p.T334T|KIR3DL1_ENST00000402254.2_Intron|KIR3DL1_ENST00000541392.1_Silent_p.T412T|KIR3DL1_ENST00000538269.1_Silent_p.T429T|KIR3DL1_ENST00000326542.7_Silent_p.T412T	p.T429T	NM_013289.2	NP_037421.2				GBM - Glioblastoma multiforme(193;0.0192)	9	1320	+								O43473|Q14946|Q16541	Silent	SNP	ENST00000391728.4	37	c.1287G>A	CCDS42621.1																																																																																				0.512	KIR3DL1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000141238.1	NM_013289		36	88	0	0	0	1	0	36	88					A	55341682	G	A	55341682	2	1	286	1	0	0	0	0	0	0	0	1	8320	1103	39	2		2	KIR3DL1	19	55341682	Silent	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	254886	55341682	3787301	640	13770											
NLRP8	126205	broad.mit.edu	37	chr19	56459552	56459552	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gatagagcgtttccctggacGacgcgcttgggatgtgactt	7	11	14	9	4	0	2	0	1	0	1	1	6	1	4	1	2	1	2	1	2	1	4	rs199475833		TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr19:56459552G>A	ENST00000291971.3	+	1	355	c.284G>A	c.(283-285)cGa>cAa	p.R95Q	NLRP8_ENST00000590542.1_Missense_Mutation_p.R95Q	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	95	DAPIN. {ECO:0000255|PROSITE- ProRule:PRU00061}.				neuron death (GO:0070997)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)			breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		TTCCCTGGACGACGCGCTTGG	0.507																																						ENST00000291971.3																			0				breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35						c.(283-285)cGa>cAa		NLR family, pyrin domain containing 8							112	105	107					19																	56459552		2203	4300	6503	SO:0001583	missense	126205					cytoplasm	ATP binding	g.chr19:56459552G>A	AY154463	CCDS12937.1	19q13.43	2008-02-05	2006-12-08	2006-12-08		ENSG00000179709		"Nucleotide-binding domain and leucine rich repeat containing"	22940	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 8"	609659	"NACHT, leucine rich repeat and PYD containing 8"	NALP8		12563287	Standard	NM_176811		Approved	NOD16, PAN4, CLR19.2	uc002qmh.3	Q86W28		ENST00000291971.3:c.284G>A	19.37:g.56459552G>A	ENSP00000291971:p.Arg95Gln					NLRP8_ENST00000590542.1_Missense_Mutation_p.R95Q	p.R95Q	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN		GBM - Glioblastoma multiforme(193;0.0695)	1	355	+		Colorectal(82;0.000147)|Ovarian(87;0.17)	95			DAPIN.		Q7RTR4	Missense_Mutation	SNP	ENST00000291971.3	37	c.284G>A	CCDS12937.1	.	.	.	.	.	.	.	.	.	.	G	6.358	0.434217	0.12045	.	.	ENSG00000179709	ENST00000291971	T	0.47177	0.85	2.05	-3.19	0.05171	Pyrin (2);DEATH-like (2);	.	.	.	.	T	0.16385	0.0394	N	0.14661	0.345	0.09310	N	1	P;P	0.38745	0.645;0.472	B;B	0.25140	0.044;0.058	T	0.24119	-1.0169	9	0.10636	T	0.68	.	2.6615	0.05028	0.4719:0.0:0.3063:0.2217	.	95;95	Q86W28-2;Q86W28	.;NALP8_HUMAN	Q	95	ENSP00000291971:R95Q	ENSP00000291971:R95Q	R	+	2	0	NLRP8	61151364	0.000000	0.05858	0.000000	0.03702	0.049000	0.14656	-0.472000	0.06623	-0.765000	0.04645	0.514000	0.50259	CGA		0.507	NLRP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457462.1	NM_176811		6	38	0	0	0	1	0	6	38					A	56459552	G	A	56459552	3	1	286	1	0	0	0	0	1	0	0	0	10483	1058	37	2	286	2	NLRP8	19	56459552	Missense_Mutation	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	1117870	56459552	2669431	641	13771											
ZNF835	90485	broad.mit.edu	37	chr19	57175886	57175886	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cggttgcggaacgccttggcGcactgggcgcacgcgtaggg	5	6	18	12	7	0	0	0	0	0	0	0	1	0	1	1	5	2	4	1	5	2	3			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr19:57175886G>A	ENST00000537055.2	-	2	912	c.681C>T	c.(679-681)tgC>tgT	p.C227C		NM_001005850.2	NP_001005850.2	Q9Y2P0	ZN835_HUMAN	zinc finger protein 835	227					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(22)|pancreas(3)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	47						ACGCCTTGGCGCACTGGGCGC	0.706																																						ENST00000537055.2																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(22)|pancreas(3)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	47						c.(679-681)tgC>tgT		zinc finger protein 835							28	27	27					19																	57175886		2203	4298	6501	SO:0001819	synonymous_variant	90485							g.chr19:57175886G>A	AK023017	CCDS56105.1	19q13.43	2013-01-08			ENSG00000127903	ENSG00000127903		"Zinc fingers, C2H2-type"	34332	protein-coding gene	gene with protein product							Standard	NM_001005850		Approved	BC37295_3	uc010ygn.2	Q9Y2P0		ENST00000537055.2:c.681C>T	19.37:g.57175886G>A							p.C227C	NM_001005850.2	NP_001005850.2					2	912	-								B7Z5Y0|G3V1S0	Silent	SNP	ENST00000537055.2	37	c.681C>T	CCDS56105.1																																																																																				0.706	ZNF835-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459800.1	NM_001005850		12	20	0	0	0	1	0	12	20					A	57175886	G	A	57175886	2	1	286	1	0	0	0	0	0	0	0	1	18183	1079	38	1		1	ZNF835	19	57175886	Silent	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	716334	57175886	1953097	642	13772											
ZNF419	79744	broad.mit.edu	37	chr19	58005261	58005261	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gctcaaccctcatgcaacatCgaaaagttcacattggagaa	15	8	7	11	1	3	1	3	0	0	1	4	3	3	1	1	1	3	3	1	1	5	2			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr19:58005261C>T	ENST00000221735.7	+	5	1522	c.1336C>T	c.(1336-1338)Cga>Tga	p.R446*	ZNF419_ENST00000424930.2_Nonsense_Mutation_p.R447*|ZNF419_ENST00000347466.6_Nonsense_Mutation_p.R414*|ZNF419_ENST00000442920.2_Nonsense_Mutation_p.R433*|ZNF419_ENST00000415379.2_Nonsense_Mutation_p.R400*|AC003005.4_ENST00000601674.1_Intron|ZNF419_ENST00000354197.4_Intron|ZNF419_ENST00000426954.2_Nonsense_Mutation_p.R434*			Q96HQ0	ZN419_HUMAN	zinc finger protein 419	446					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R421*(1)|p.R414*(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Breast(46;0.0848)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0252)|Lung(386;0.171)		CATGCAACATCGAAAAGTTCA	0.433																																						ENST00000424930.2																			2	Substitution - Nonsense(2)	p.R421*(1)|p.R414*(1)	large_intestine(2)	central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26						c.(1339-1341)Cga>Tga		zinc finger protein 419							115	121	119					19																	58005261		2203	4300	6503	SO:0001587	stop_gained	79744				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58005261C>T	AK026886	CCDS42637.1, CCDS46211.1, CCDS54325.1, CCDS54326.1, CCDS54327.1, CCDS54328.1	19q13.43	2013-01-08	2006-12-15	2006-12-15	ENSG00000105136	ENSG00000105136		"Zinc fingers, C2H2-type", "-"	20648	protein-coding gene	gene with protein product			"zinc finger protein 419A"	ZNF419A			Standard	NM_001098492		Approved		uc010ety.1	Q96HQ0	OTTHUMG00000037073	ENST00000221735.7:c.1336C>T	19.37:g.58005261C>T	ENSP00000221735:p.Arg446*					ZNF419_ENST00000347466.6_Nonsense_Mutation_p.R414*|ZNF419_ENST00000354197.4_Intron|ZNF419_ENST00000415379.2_Nonsense_Mutation_p.R400*|ZNF419_ENST00000426954.2_Nonsense_Mutation_p.R434*|AC003005.4_ENST00000601674.1_Intron|ZNF419_ENST00000221735.7_Nonsense_Mutation_p.R446*|ZNF419_ENST00000442920.2_Nonsense_Mutation_p.R433*	p.R447*	NM_001098491.1|NM_024691.3	NP_001091961.1|NP_078967.3	Q96HQ0	ZN419_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0252)|Lung(386;0.171)	5	1568	+		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Breast(46;0.0848)|Renal(1328;0.157)	446					B4DXU7|B4E348|B7ZA41|E9PCP4|E9PED0|E9PET3|E9PFX9|Q9H5P0	Nonsense_Mutation	SNP	ENST00000221735.7	37	c.1339C>T	CCDS54326.1	.	.	.	.	.	.	.	.	.	.	C	29.9	5.048861	0.93740	.	.	ENSG00000105136	ENST00000284020;ENST00000424930;ENST00000426954;ENST00000442920;ENST00000347466;ENST00000415379;ENST00000221735	.	.	.	2.11	-0.185	0.13276	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.28530	T	0.3	.	3.3991	0.07316	0.2029:0.512:0.0:0.285	.	.	.	.	X	421;447;434;433;414;400;446	.	ENSP00000221735:R446X	R	+	1	2	ZNF419	62697073	0.000000	0.05858	0.002000	0.10522	0.782000	0.44232	-1.271000	0.02828	0.193000	0.20303	0.205000	0.17691	CGA		0.433	ZNF419-006	KNOWN	NAGNAG_splice_site|non_canonical_polymorphism|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000378506.1	NM_024691		16	91	0	0	0	1	0	16	91					T	58005261	C	T	58005261	4	4	286	1	0	0	0	0	0	1	0	0	17893	876	31	2	1357	2	ZNF419	19	58005261	Nonsense_Mutation	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	829375	58005261	1123722	643	13773											
GPCPD1	56261	broad.mit.edu	37	chr20	5550838	5550838	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agatcatgatataccacgggCacaaagtcctttgaaaggtg	14	9	10	8	1	1	3	1	2	0	1	2	3	2	3	2	2	1	1	2	2	4	3			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr20:5550838C>T	ENST00000379019.4	-	12	1316	c.1104G>A	c.(1102-1104)gtG>gtA	p.V368V	GPCPD1_ENST00000481038.1_5'UTR	NM_019593.3	NP_062539.1	Q9NPB8	GPCP1_HUMAN	glycerophosphocholine phosphodiesterase GDE1 homolog (S. cerevisiae)	368	GP-PDE.				glycerophospholipid biosynthetic process (GO:0046474)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)	glycerophosphocholine phosphodiesterase activity (GO:0047389)|starch binding (GO:2001070)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(2)|skin(1)	16						ATACCACGGGCACAAAGTCCT	0.363																																						ENST00000379019.4																			0				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(2)|skin(1)	16						c.(1102-1104)gtG>gtA		glycerophosphocholine phosphodiesterase GDE1 homolog (S. cerevisiae)							93	86	89					20																	5550838		2203	4300	6503	SO:0001819	synonymous_variant	56261				glycerol metabolic process|lipid metabolic process		carbohydrate binding|glycerophosphodiester phosphodiesterase activity	g.chr20:5550838C>T		CCDS13090.1	20p12.3	2011-01-25			ENSG00000125772	ENSG00000125772			26957	protein-coding gene	gene with protein product		614124				10718198, 20576599	Standard	NM_019593		Approved	KIAA1434, GDE5, GDPD6	uc002wme.4	Q9NPB8	OTTHUMG00000031806	ENST00000379019.4:c.1104G>A	20.37:g.5550838C>T						GPCPD1_ENST00000481038.1_5'UTR	p.V368V	NM_019593.3	NP_062539.1	Q9NPB8	GPCP1_HUMAN			12	1316	-			368			GDPD.		D3DW06|Q9BQL8|Q9NUX0	Silent	SNP	ENST00000379019.4	37	c.1104G>A	CCDS13090.1	.	.	.	.	.	.	.	.	.	.	C	9.882	1.201821	0.22121	.	.	ENSG00000125772	ENST00000418646	.	.	.	5.2	3.23	0.37069	.	.	.	.	.	T	0.56426	0.1984	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.52741	-0.8535	4	.	.	.	-15.8334	7.5875	0.28002	0.0:0.6098:0.2443:0.1458	.	.	.	.	T	67	.	.	A	-	1	0	GPCPD1	5498838	0.983000	0.35010	1.000000	0.80357	0.981000	0.71138	0.233000	0.17911	1.337000	0.45525	0.591000	0.81541	GCC		0.363	GPCPD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077869.1	NM_019593		4	46	0	0	0	1	0	4	46					T	5550838	C	T	5550838	2	4	286	1	0	0	0	0	0	0	0	1	6603	697	25	3		3	GPCPD1	20	5550838	Silent	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08		5550838	57474682	644	13774											
SPTLC3	55304	broad.mit.edu	37	chr20	13098266	13098266	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggccgtgggcccaaccggccGgggtgtcacggagttctttg	4	8	17	12	4	2	0	1	0	1	0	2	1	2	1	4	6	1	1	4	6	1	2			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr20:13098266G>A	ENST00000399002.2	+	8	1320	c.1046G>A	c.(1045-1047)cGg>cAg	p.R349Q	SPTLC3_ENST00000378194.4_Intron	NM_018327.2	NP_060797.2	Q9NUV7	SPTC3_HUMAN	serine palmitoyltransferase, long chain base subunit 3	349					small molecule metabolic process (GO:0044281)|sphingoid biosynthetic process (GO:0046520)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|serine C-palmitoyltransferase complex (GO:0017059)	pyridoxal phosphate binding (GO:0030170)|serine C-palmitoyltransferase activity (GO:0004758)			breast(1)|endometrium(1)|large_intestine(7)|lung(14)|skin(1)|urinary_tract(1)	25						CCAACCGGCCGGGGTGTCACG	0.498																																						ENST00000399002.2																			0				breast(1)|endometrium(1)|large_intestine(7)|lung(14)|skin(1)|urinary_tract(1)	25						c.(1045-1047)cGg>cAg		serine palmitoyltransferase, long chain base subunit 3	Pyridoxal Phosphate(DB00114)						96	99	98					20																	13098266		1858	4096	5954	SO:0001583	missense	55304				sphingoid biosynthetic process	integral to membrane|serine C-palmitoyltransferase complex	pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups	g.chr20:13098266G>A	AL109983	CCDS13115.2	20p12.1	2011-07-05	2006-12-21	2006-12-21	ENSG00000172296	ENSG00000172296	2.3.1.50		16253	protein-coding gene	gene with protein product		611120	"chromosome 20 open reading frame 38", "serine palmitoyltransferase, long chain base subunit 2-like (aminotransferase 2)"	C20orf38, SPTLC2L		17023427	Standard	NM_018327		Approved	LCB2B, FLJ11112, hLCB2b	uc002wod.1	Q9NUV7	OTTHUMG00000031899	ENST00000399002.2:c.1046G>A	20.37:g.13098266G>A	ENSP00000381968:p.Arg349Gln					SPTLC3_ENST00000378194.4_Intron	p.R349Q	NM_018327.2	NP_060797.2	Q9NUV7	SPTC3_HUMAN			8	1320	+			349					A2A2I4|B9EK64|Q05DQ8|Q5T1U4|Q9H1L1|Q9H1Z0	Missense_Mutation	SNP	ENST00000399002.2	37	c.1046G>A	CCDS13115.2	.	.	.	.	.	.	.	.	.	.	G	29.0	4.967376	0.92855	.	.	ENSG00000172296	ENST00000399002	D	0.95518	-3.73	6.16	4.18	0.49190	Aminotransferase, class I/classII (1);Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.048089	0.85682	N	0.000000	D	0.97359	0.9136	M	0.93016	3.37	0.80722	D	1	D	0.63880	0.993	P	0.55391	0.775	D	0.97750	1.0214	10	0.72032	D	0.01	-7.3572	11.9827	0.53129	0.1883:0.0:0.8117:0.0	.	349	Q9NUV7	SPTC3_HUMAN	Q	349	ENSP00000381968:R349Q	ENSP00000381968:R349Q	R	+	2	0	SPTLC3	13046266	1.000000	0.71417	0.992000	0.48379	0.904000	0.53231	3.854000	0.55949	1.595000	0.50050	0.650000	0.86243	CGG		0.498	SPTLC3-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254544.1	NM_018327		8	94	0	0	0	1	0	8	94					A	13098266	G	A	13098266	3	1	286	1	0	0	0	0	1	0	0	0	15124	1116	39	2	1076	2	SPTLC3	20	13098266	Missense_Mutation	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	7547428	13098266	49927254	645	13775											
ESF1	51575	broad.mit.edu	37	chr20	13714387	13714388	+	Frame_Shift_Ins	INS	-	-	T																															cttctgtttccttttcagtcINStttttttctctttcttcttc																										TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr20:13714387_13714388insT	ENST00000202816.1	-	10	2037_2038	c.1930_1931insA	c.(1930-1932)agafs	p.R644fs		NM_001276380.1|NM_016649.3	NP_001263309.1|NP_057733.2	Q9H501	ESF1_HUMAN	ESF1, nucleolar pre-rRNA processing protein, homolog (S. cerevisiae)	644	Lys-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	extracellular space (GO:0005615)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(2)|skin(1)|stomach(1)	31						CCTTTTCAGTCTTTTTTTCTCT	0.347																																						ENST00000202816.1																			0				endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(2)|skin(1)|stomach(1)	31						c.(1930-1932)actfs		ESF1, nucleolar pre-rRNA processing protein, homolog (S. cerevisiae)																																				SO:0001589	frameshift_variant	51575				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus|nucleoplasm		g.chr20:13714387_13714388insT		CCDS13117.1	20p12.1	2007-02-12	2006-11-13	2006-11-13	ENSG00000089048	ENSG00000089048			15898	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 6"	C20orf6			Standard	NM_016649		Approved	bA526K24.1	uc002wok.2	Q9H501	OTTHUMG00000031906	ENST00000202816.1:c.1931dupA	20.37:g.13714394_13714394dupT	ENSP00000202816:p.Arg644fs						p.T644fs	NM_001276380.1|NM_016649.3	NP_001263309.1|NP_057733.2	Q9H501	ESF1_HUMAN			10	2037_2038	-			644			Lys-rich.		Q86X92|Q9H9Q5|Q9HA35|Q9NX93|Q9P1S6	Frame_Shift_Ins	INS	ENST00000202816.1	37	c.1930_1931insA	CCDS13117.1																																																																																				0.347	ESF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078049.1	NM_016649		9	19						9	19	---	---	---	---	T	13714388	-	T	13714387	7	5	286	1	0	1	1	0	0	0	0	0	5251	913	32	0	644	0	ESF1	20	13714387	Frame_Shift_Ins	INS	-	TCGA-J9-A52C-01A-11D-A26M-08	616121	13714387	49311133	646	13776											
CD93	22918	broad.mit.edu	37	chr20	23065887	23065887	+	Frame_Shift_Del	DEL	C	C	-																															gggtcccaggacgcacgtggCccccccacgacatgggctgg																										TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr20:23065887delC	ENST00000246006.4	-	1	1090	c.943delG	c.(943-945)gccfs	p.A315fs		NM_012072.3	NP_036204.2	Q9NPY3	C1QR1_HUMAN	CD93 molecule	315	EGF-like 2. {ECO:0000255|PROSITE- ProRule:PRU00076}.				macrophage activation (GO:0042116)|phagocytosis (GO:0006909)|single organismal cell-cell adhesion (GO:0016337)|viral process (GO:0016032)	cell surface (GO:0009986)|cytoplasmic membrane-bounded vesicle (GO:0016023)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|complement component C1q binding (GO:0001849)|receptor activity (GO:0004872)			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39	Colorectal(13;0.0352)|Lung NSC(19;0.0542)|all_lung(19;0.118)					ACGCACGTGGCCCCCCCACGA	0.637																																						ENST00000246006.4																			0				NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						c.(943-945)ccfs		CD93 molecule							42	46	45					20																	23065887		2203	4300	6503	SO:0001589	frameshift_variant	22918				cell-cell adhesion|interspecies interaction between organisms|macrophage activation|phagocytosis	plasma membrane	calcium ion binding|complement component C1q binding|receptor activity|sugar binding	g.chr20:23065887delC	U94333	CCDS13149.1	20p11.21	2009-01-29	2006-03-28	2006-02-22	ENSG00000125810	ENSG00000125810		"CD molecules"	15855	protein-coding gene	gene with protein product		120577	"matrix-remodelling associated 4", "complement component 1, q subcomponent, receptor 1", "CD93 antigen"	MXRA4, C1QR1		9047234, 10648005	Standard	NM_012072		Approved	C1qRP, C1qR(P), dJ737E23.1, CDw93, ECSM3	uc002wsv.3	Q9NPY3	OTTHUMG00000032058	ENST00000246006.4:c.943delG	20.37:g.23065887delC	ENSP00000246006:p.Ala315fs						p.A315fs	NM_012072.3	NP_036204.2	Q9NPY3	C1QR1_HUMAN			1	1090	-	Colorectal(13;0.0352)|Lung NSC(19;0.0542)|all_lung(19;0.118)		315			EGF-like 2.		O00274	Frame_Shift_Del	DEL	ENST00000246006.4	37	c.943delG	CCDS13149.1																																																																																				0.637	CD93-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078312.2	NM_012072		19	75						19	75	---	---	---	---	-	23065887	C	-	23065887	7	5	286	1	0	1	0	1	0	0	0	0	3047	739	26	0	1023	0	CD93	20	23065887	Frame_Shift_Del	DEL	C	TCGA-J9-A52C-01A-11D-A26M-08	9351500	23065887	39959633	647	13777											
ACSS1	84532	broad.mit.edu	37	chr20	24994194	24994194	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggtaggccttgaagtaggcGtccacaaatcgctggtggtc	8	9	15	9	2	0	1	0	1	0	0	3	1	1	1	2	5	0	3	2	5	4	3	rs139870683		TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr20:24994194G>A	ENST00000323482.4	-	10	1636	c.1557C>T	c.(1555-1557)gaC>gaT	p.D519D	ACSS1_ENST00000542618.1_Silent_p.D398D|ACSS1_ENST00000484396.1_5'Flank|ACSS1_ENST00000537502.1_Silent_p.D436D|ACSS1_ENST00000432802.2_Silent_p.D519D	NM_001252675.1|NM_032501.3	NP_001239604.1|NP_115890.2	Q9NUB1	ACS2L_HUMAN	acyl-CoA synthetase short-chain family member 1	519					acetate biosynthetic process (GO:0019413)|acetyl-CoA biosynthetic process (GO:0006085)|acetyl-CoA biosynthetic process from acetate (GO:0019427)|ethanol oxidation (GO:0006069)|propionate biosynthetic process (GO:0019542)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	mitochondrial matrix (GO:0005759)	acetate-CoA ligase activity (GO:0003987)|AMP binding (GO:0016208)|ATP binding (GO:0005524)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	26					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	TGAAGTAGGCGTCCACAAATC	0.572													G|||	1	0.000199681	8e-04	0	5008	,	,		19382	0		0	False		,,,				2504	0					ENST00000537502.1																			0				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	26						c.(1306-1308)gaC>gaT		acyl-CoA synthetase short-chain family member 1	Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	G		1,4405	2.1+/-5.4	0,1,2202	46	44	45		1557	-9.4	0	20	dbSNP_134	45	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	ACSS1	NM_032501.2		0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154		519/690	24994194	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	84532				acetyl-CoA biosynthetic process|ethanol oxidation|xenobiotic metabolic process	mitochondrial matrix	acetate-CoA ligase activity|AMP binding|ATP binding|protein binding	g.chr20:24994194G>A		CCDS13167.1, CCDS58764.1, CCDS58765.1	20p11.23-p11.21	2012-07-13	2005-09-08	2005-09-08	ENSG00000154930	ENSG00000154930	6.2.1.1	"Acyl-CoA synthetase family"	16091	protein-coding gene	gene with protein product		614355	"acetyl-Coenzyme A synthetase 2 (AMP forming)-like"	ACAS2L			Standard	NM_032501		Approved	dJ568C11.3, AceCS2L, MGC33843	uc002wub.3	Q9NUB1	OTTHUMG00000032112	ENST00000323482.4:c.1557C>T	20.37:g.24994194G>A						ACSS1_ENST00000432802.2_Silent_p.D519D|ACSS1_ENST00000323482.4_Silent_p.D519D|ACSS1_ENST00000542618.1_Silent_p.D398D	p.D436D			Q9NUB1	ACS2L_HUMAN			8	2839	-			519					B3KXL2|B4DJZ3|D3DW48|F5H6F4|F8W7Y1|Q5TF42|Q8IV99|Q8N234|Q96JI1|Q96JX6|Q9NU28	Silent	SNP	ENST00000323482.4	37	c.1308C>T	CCDS13167.1																																																																																				0.572	ACSS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078386.2	NM_032501		5	35	0	0	0	1	0	5	35					A	24994194	G	A	24994194	2	1	286	1	0	0	0	0	0	0	0	1	188	1136	40	1		1	ACSS1	20	24994194	Silent	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	1928307	24994194	38031326	648	13778											
MYH7B	26133	broad.mit.edu	37	chr20	33589834	33589834	+	IGR	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaggagcgggcagacatggcGgaaacccaggccaacaagct	13	2	15	11	2	0	1	0	0	0	1	0	4	0	3	2	5	4	2	2	5	3	0	rs374941328		TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr20:33589834G>A	ENST00000252015.2	-	0	3226				MYH7B_ENST00000262873.7_Silent_p.A1962A			Q8TEL6	TP4AP_HUMAN	transient receptor potential cation channel, subfamily C, member 4 associated protein						calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|protein ubiquitination (GO:0016567)|transmembrane transport (GO:0055085)|ubiquitin-dependent protein catabolic process (GO:0006511)	Cul4A-RING E3 ubiquitin ligase complex (GO:0031464)|plasma membrane (GO:0005886)	phosphatase binding (GO:0019902)			breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|skin(1)|stomach(1)|urinary_tract(1)	32			BRCA - Breast invasive adenocarcinoma(18;0.00936)			CAGACATGGCGGAAACCCAGG	0.672																																						ENST00000262873.7																			0				NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	54						c.(5884-5886)gcG>gcA		myosin, heavy chain 7B, cardiac muscle, beta		G		1,4387	2.1+/-5.4	0,1,2193	44	55	52		5886	-1.8	1	20		52	1,8593	1.2+/-3.3	0,1,4296	no	coding-synonymous	MYH7B	NM_020884.3		0,2,6489	AA,AG,GG		0.0116,0.0228,0.0154		1962/1984	33589834	2,12980	2194	4297	6491	SO:0001628	intergenic_variant	57644					membrane|myosin filament	actin binding|ATP binding|motor activity	g.chr20:33589834G>A	AF055022	CCDS13246.1, CCDS46591.1	20q11.23	2014-06-13	2003-10-06	2003-10-08	ENSG00000100991	ENSG00000100991			16181	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 158"	608430	"chromosome 20 open reading frame 188"	C20orf188			Standard	NM_015638		Approved	DKFZP727M231, DKFZp586C1223, dJ756N5.2, TRRP4AP, PPP1R158	uc002xbk.3	Q8TEL6	OTTHUMG00000032319		20.37:g.33589834G>A							p.A1962A	NM_020884.3	NP_065935.2	A7E2Y1	MYH7B_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.00691)		42	5978	+			1920					E1P5Q0|E1P5Q1|Q96H82|Q9BVB8|Q9H429|Q9UFS6	Silent	SNP	ENST00000252015.2	37	c.5886G>A	CCDS13246.1																																																																																				0.672	TRPC4AP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078832.2	NM_015638		15	25	0	0	0	1	0	15	25					A	33589834	G	A	33589834	1	1	286	0	1	0	0	0	0	0	0	0	10040	1103	39	2		2	MYH7B	20	33589834	IGR	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	8595640	33589834	29435686	649	13779											
KIAA0406	9675	broad.mit.edu	37	chr20	36634623	36634623	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcattatcaaaatccgagaCatttccatctgccacatcct	12	13	3	13	1	3	1	2	0	1	1	6	2	6	1	4	0	1	0	4	0	3	3			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr20:36634623C>T	ENST00000373448.2	-	4	2717	c.2479G>A	c.(2479-2481)Gtc>Atc	p.V827I	TTI1_ENST00000373447.3_Missense_Mutation_p.V827I|TTI1_ENST00000449821.1_Missense_Mutation_p.V827I	NM_014657.1	NP_055472.1	O43156	TTI1_HUMAN	TELO2 interacting protein 1	827					regulation of TOR signaling (GO:0032006)	cytoplasm (GO:0005737)|TORC1 complex (GO:0031931)|TORC2 complex (GO:0031932)				breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	47						AAATCCGAGACATTTCCATCT	0.388																																						ENST00000373448.2																			0				breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	47						c.(2479-2481)Gtc>Atc		TELO2 interacting protein 1							242	228	233					20																	36634623		2203	4300	6503	SO:0001583	missense	9675						binding	g.chr20:36634623C>T	BC013121	CCDS13300.1	20q11.23	2011-11-10	2011-11-10	2010-06-22	ENSG00000101407	ENSG00000101407			29029	protein-coding gene	gene with protein product	"smg-10 homolog, nonsense mediated mRNA decay factor (C. elegans)"	614425	"KIAA0406", "Tel2 interacting protein 1 homolog (S. pombe)"	KIAA0406		9455477, 20427287, 20371770	Standard	NM_014657		Approved	smg-10	uc002xhl.3	O43156	OTTHUMG00000032433	ENST00000373448.2:c.2479G>A	20.37:g.36634623C>T	ENSP00000362547:p.Val827Ile					TTI1_ENST00000373447.3_Missense_Mutation_p.V827I|TTI1_ENST00000449821.1_Missense_Mutation_p.V827I	p.V827I	NM_014657.1	NP_055472.1	O43156	TTI1_HUMAN			4	2717	-			827					D6W4K3|Q5JX67|Q96A38|Q9BR47|Q9H4K0	Missense_Mutation	SNP	ENST00000373448.2	37	c.2479G>A	CCDS13300.1	.	.	.	.	.	.	.	.	.	.	C	12.37	1.916985	0.33815	.	.	ENSG00000101407	ENST00000373448;ENST00000373447;ENST00000449821	T;T;T	0.14022	2.54;2.54;2.54	5.32	3.41	0.39046	Armadillo-type fold (1);	0.172065	0.50627	D	0.000109	T	0.12561	0.0305	L	0.53249	1.67	0.29734	N	0.837641	B	0.27140	0.169	B	0.24394	0.053	T	0.08848	-1.0702	10	0.34782	T	0.22	-13.9906	7.9497	0.30008	0.0:0.8175:0.0:0.1825	.	827	O43156	TTI1_HUMAN	I	827	ENSP00000362547:V827I;ENSP00000362546:V827I;ENSP00000407270:V827I	ENSP00000362546:V827I	V	-	1	0	TTI1	36068037	1.000000	0.71417	0.985000	0.45067	0.942000	0.58702	0.816000	0.27267	0.818000	0.34468	0.557000	0.71058	GTC		0.388	TTI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079138.2	NM_014657		12	94	0	0	0	1	0	12	94					T	36634623	C	T	36634623	3	4	286	1	0	0	0	0	1	0	0	0	8173	478	17	3	814	3	KIAA0406	20	36634623	Missense_Mutation	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	3044789	36634623	26390897	650	13780											
IFT52	51098	broad.mit.edu	37	chr20	42275596	42275596	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaacatgacatcgatacaagTgaaacagcattccagaacaa	19	6	7	9	1	0	3	0	2	0	1	2	5	1	3	1	0	5	1	1	0	6	2			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr20:42275596T>C	ENST00000373030.3	+	14	1417	c.1287T>C	c.(1285-1287)agT>agC	p.S429S	IFT52_ENST00000373039.4_Silent_p.S429S|IFT52_ENST00000471199.1_3'UTR	NM_016004.2	NP_057088.2	Q9Y366	IFT52_HUMAN	intraflagellar transport 52	429					cilium morphogenesis (GO:0060271)|dorsal/ventral pattern formation (GO:0009953)|embryonic digit morphogenesis (GO:0042733)|heart looping (GO:0001947)|intraciliary transport (GO:0042073)|negative regulation of epithelial cell proliferation (GO:0050680)|neural tube formation (GO:0001841)|regulation of protein processing (GO:0070613)|smoothened signaling pathway (GO:0007224)	centriole (GO:0005814)|ciliary base (GO:0097546)|ciliary tip (GO:0097542)|cilium (GO:0005929)|dendrite terminus (GO:0044292)|intraciliary transport particle B (GO:0030992)|motile cilium (GO:0031514)|photoreceptor connecting cilium (GO:0032391)	protein C-terminus binding (GO:0008022)			endometrium(5)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)|urinary_tract(1)	21		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			TCGATACAAGTGAAACAGCAT	0.353																																						ENST00000373030.3																			0				endometrium(5)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)|urinary_tract(1)	21						c.(1285-1287)agT>agC		intraflagellar transport 52 homolog (Chlamydomonas)							172	162	165					20																	42275596		2203	4300	6503	SO:0001819	synonymous_variant	51098					intraflagellar transport particle B|microtubule-based flagellum	protein C-terminus binding	g.chr20:42275596T>C	AF151811	CCDS33470.1	20q12-q13.1	2014-07-03	2014-07-03	2005-11-02	ENSG00000101052	ENSG00000101052		"Intraflagellar transport homologs"	15901	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 9", "intraflagellar transport 52 homolog (Chlamydomonas)"	C20orf9		10810093	Standard	NM_016004		Approved	CGI-53, NGD5, dJ1028D15.1, NGD2	uc002xkw.3	Q9Y366	OTTHUMG00000032513	ENST00000373030.3:c.1287T>C	20.37:g.42275596T>C						IFT52_ENST00000373039.4_Silent_p.S429S|IFT52_ENST00000471199.1_3'UTR	p.S429S	NM_016004.2	NP_057088.2	Q9Y366	IFT52_HUMAN	COAD - Colon adenocarcinoma(18;0.0031)		14	1417	+		Myeloproliferative disorder(115;0.00452)	429					B3KMA1|E1P5W9|Q5H8Z0|Q9H1G3|Q9H1G4|Q9H1H2	Silent	SNP	ENST00000373030.3	37	c.1287T>C	CCDS33470.1																																																																																				0.353	IFT52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079317.1	NM_016004		13	72	0	0	0	1	0	13	72					C	42275596	T	C	42275596	2	2	286	1	0	0	0	0	0	0	0	1	7561	1693	59	4		4	IFT52	20	42275596	Silent	SNP	T	TCGA-J9-A52C-01A-11D-A26M-08	5640973	42275596	20749924	651	13781											
FAM65C	140876	broad.mit.edu	37	chr20	49236609	49236609	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaccccttccgcagcgtgccGtacatcttggaggattttgc	6	11	11	13	3	1	0	0	0	1	0	2	3	2	2	4	2	4	2	4	2	1	5	rs139735596	byFrequency	TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr20:49236609G>A	ENST00000327979.2	-	3	582	c.171C>T	c.(169-171)taC>taT	p.Y57Y	FAM65C_ENST00000045083.2_Silent_p.Y57Y|FAM65C_ENST00000535356.1_Silent_p.Y61Y			Q96MK2	FA65C_HUMAN	family with sequence similarity 65, member C	57										endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(1)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GCAGCGTGCCGTACATCTTGG	0.547													G|||	4	0.000798722	0.0023	0	5008	,	,		20397	0		0	False		,,,				2504	0.001					ENST00000327979.2																			0				endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(1)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(169-171)taC>taT		family with sequence similarity 65, member C		G		15,4391	21.2+/-45.6	0,15,2188	109	98	102		171	-2.3	0.5	20	dbSNP_134	102	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	FAM65C	NM_080829.2		0,16,6487	AA,AG,GG		0.0116,0.3404,0.123		57/947	49236609	16,12990	2203	4300	6503	SO:0001819	synonymous_variant	140876							g.chr20:49236609G>A	AL133230	CCDS13431.2	20q13.13	2011-11-24	2008-06-13	2008-06-13	ENSG00000042062	ENSG00000042062			16168	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 175", "chromosome 20 open reading frame 176"	C20orf175, C20orf176			Standard	XM_005260294		Approved	dJ530I15.2, dJ530I15.3	uc002xvm.3	Q96MK2	OTTHUMG00000032724	ENST00000327979.2:c.171C>T	20.37:g.49236609G>A						FAM65C_ENST00000535356.1_Silent_p.Y61Y|FAM65C_ENST00000045083.2_Silent_p.Y57Y	p.Y57Y			Q96MK2	FA65C_HUMAN			3	582	-			57					Q5QPB6|Q9NQQ2	Silent	SNP	ENST00000327979.2	37	c.171C>T	CCDS13431.2																																																																																				0.547	FAM65C-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257962.1			10	76	0	0	0	1	0	10	76					A	49236609	G	A	49236609	2	1	286	1	0	0	0	0	0	0	0	1	5601	1140	40	1		1	FAM65C	20	49236609	Silent	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	6961013	49236609	13788911	652	13782											
BMP7	655	broad.mit.edu	37	chr20	55840761	55840761	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcgcctgcccttactcacCgaggttgacgaagctcatga	8	9	9	15	3	2	2	2	2	0	0	3	4	2	2	4	1	3	2	4	1	2	2			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr20:55840761C>T	ENST00000395863.3	-	1	923	c.418G>A	c.(418-420)Gtg>Atg	p.V140M	BMP7_ENST00000450594.2_Splice_Site_p.V140M|RP4-813D12.3_ENST00000412321.1_lincRNA|BMP7_ENST00000395864.3_Splice_Site_p.V140M	NM_001719.2	NP_001710.1	P18075	BMP7_HUMAN	bone morphogenetic protein 7	140					axon guidance (GO:0007411)|BMP signaling pathway (GO:0030509)|branching involved in salivary gland morphogenesis (GO:0060445)|branching morphogenesis of an epithelial tube (GO:0048754)|cartilage development (GO:0051216)|cellular response to hypoxia (GO:0071456)|dendrite development (GO:0016358)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic limb morphogenesis (GO:0030326)|embryonic pattern specification (GO:0009880)|embryonic skeletal joint morphogenesis (GO:0060272)|epithelial cell differentiation (GO:0030855)|epithelial to mesenchymal transition (GO:0001837)|extracellular matrix organization (GO:0030198)|growth (GO:0040007)|mesenchymal cell differentiation (GO:0048762)|mesenchyme development (GO:0060485)|mesoderm formation (GO:0001707)|mesonephros development (GO:0001823)|metanephric mesenchymal cell proliferation involved in metanephros development (GO:0072136)|metanephric mesenchyme morphogenesis (GO:0072133)|metanephros development (GO:0001656)|monocyte aggregation (GO:0070487)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell death (GO:0060548)|negative regulation of glomerular mesangial cell proliferation (GO:0072125)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of mesenchymal cell apoptotic process involved in nephron morphogenesis (GO:0072040)|negative regulation of mitosis (GO:0045839)|negative regulation of neurogenesis (GO:0050768)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of phosphorylation (GO:0042326)|negative regulation of prostatic bud formation (GO:0060686)|negative regulation of striated muscle cell apoptotic process (GO:0010664)|negative regulation of transcription, DNA-templated (GO:0045892)|nephrogenic mesenchyme morphogenesis (GO:0072134)|neuron projection morphogenesis (GO:0048812)|odontogenesis of dentin-containing tooth (GO:0042475)|ossification (GO:0001503)|positive regulation of apoptotic process (GO:0043065)|positive regulation of bone mineralization (GO:0030501)|positive regulation of dendrite development (GO:1900006)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of hyaluranon cable assembly (GO:1900106)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein localization to nucleus (GO:0034504)|regulation of branching involved in prostate gland morphogenesis (GO:0060687)|regulation of pathway-restricted SMAD protein phosphorylation (GO:0060393)|regulation of removal of superoxide radicals (GO:2000121)|response to estradiol (GO:0032355)|response to peptide hormone (GO:0043434)|response to vitamin D (GO:0033280)|skeletal system development (GO:0001501)|SMAD protein signal transduction (GO:0060395)|steroid hormone mediated signaling pathway (GO:0043401)|ureteric bud development (GO:0001657)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane-bounded vesicle (GO:0031988)	heparin binding (GO:0008201)	p.V140M(1)		endometrium(4)|kidney(1)|large_intestine(7)|lung(6)|prostate(1)|skin(1)	20	all_lung(29;0.0133)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(4;2.49e-13)|Epithelial(14;1.74e-08)|all cancers(14;2.05e-07)			CCTTACTCACCGAGGTTGACG	0.622																																						ENST00000395863.3																			1	Substitution - Missense(1)	p.V140M(1)	endometrium(1)	endometrium(4)|kidney(1)|large_intestine(7)|lung(6)|prostate(1)|skin(1)	20						c.e1+1		bone morphogenetic protein 7							25	20	22					20																	55840761		2201	4299	6500	SO:0001630	splice_region_variant	655				BMP signaling pathway|cartilage development|cellular response to hypoxia|epithelial to mesenchymal transition|growth|mesonephros development|negative regulation of glomerular mesangial cell proliferation|negative regulation of MAP kinase activity|negative regulation of mitosis|negative regulation of neuron differentiation|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|negative regulation of phosphorylation|negative regulation of striated muscle cell apoptosis|negative regulation of transcription, DNA-dependent|ossification|pathway-restricted SMAD protein phosphorylation|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|protein localization to nucleus|regulation of removal of superoxide radicals|SMAD protein signal transduction|steroid hormone mediated signaling pathway|ureteric bud development	extracellular space	cytokine activity|growth factor activity	g.chr20:55840761C>T		CCDS13455.1	20q13	2014-01-30	2008-05-22		ENSG00000101144	ENSG00000101144		"Bone morphogenetic proteins", "Endogenous ligands"	1074	protein-coding gene	gene with protein product	"osteogenic protein 1"	112267				1427904	Standard	NM_001719		Approved	OP-1	uc010gip.1	P18075	OTTHUMG00000032812	ENST00000395863.3:c.418+1G>A	20.37:g.55840761C>T						BMP7_ENST00000450594.2_Splice_Site_p.V140_splice|BMP7_ENST00000395864.3_Splice_Site_p.V140_splice	p.V140_splice	NM_001719.2	NP_001710.1	P18075	BMP7_HUMAN	BRCA - Breast invasive adenocarcinoma(4;2.49e-13)|Epithelial(14;1.74e-08)|all cancers(14;2.05e-07)		1	923	-	all_lung(29;0.0133)|Melanoma(10;0.242)		140					Q9H512|Q9NTQ7	Splice_Site	SNP	ENST00000395863.3	37	c.418_splice	CCDS13455.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.3|20.3	3.963763|3.963763	0.74131|0.74131	.|.	.|.	ENSG00000101144|ENSG00000101144	ENST00000433911|ENST00000395863;ENST00000395864;ENST00000450594	.|T;T;T	.|0.65916	.|-0.18;-0.18;-0.18	5.04|5.04	5.04|5.04	0.67666|0.67666	.|Transforming growth factor-beta, N-terminal (1);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.82328|0.82328	0.5013|0.5013	M|M	0.87900|0.87900	2.915|2.915	0.80722|0.80722	D|D	1|1	.|D;P;D	.|0.89917	.|1.0;0.656;0.999	.|D;P;D	.|0.91635	.|0.999;0.728;0.958	D|D	0.85215|0.85215	0.1023|0.1023	5|9	.|.	.|.	.|.	.|.	18.385|18.385	0.90464|0.90464	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|140;140;140	.|B1AKZ9;P18075;B1AL00	.|.;BMP7_HUMAN;.	H|M	25|140	.|ENSP00000379204:V140M;ENSP00000379205:V140M;ENSP00000398687:V140M	.|.	R|V	-|-	2|1	0|0	BMP7|BMP7	55274168|55274168	1.000000|1.000000	0.71417|0.71417	0.992000|0.992000	0.48379|0.48379	0.980000|0.980000	0.70556|0.70556	4.559000|4.559000	0.60796|0.60796	2.311000|2.311000	0.77944|0.77944	0.491000|0.491000	0.48974|0.48974	CGT|GTG		0.622	BMP7-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000079831.2		Missense_Mutation	4	5	0	0	0	1	0	4	5					T	55840761	C	T	55840761	5	4	286	1	0	0	0	0	0	0	1	0	1465	666	23	2	905	2	BMP7	20	55840761	Splice_Site	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	6604152	55840761	7184759	653	13783											
SLCO4A1	28231	broad.mit.edu	37	chr20	61288118	61288118	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcctcaacacgcccaagggCatcctgttcttcctgtgtgc	6	11	9	15	1	2	0	1	0	1	0	5	0	5	0	4	1	2	2	4	1	2	2			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr20:61288118C>T	ENST00000370507.1	+	1	408	c.312C>T	c.(310-312)ggC>ggT	p.G104G	SLCO4A1_ENST00000217159.1_Silent_p.G104G			Q96BD0	SO4A1_HUMAN	solute carrier organic anion transporter family, member 4A1	104					sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			endometrium(6)|kidney(2)|large_intestine(1)|lung(7)|ovary(3)|prostate(2)	21	Breast(26;3.65e-08)		BRCA - Breast invasive adenocarcinoma(19;2.33e-06)		Benzylpenicillin(DB01053)|Conjugated Estrogens(DB00286)|Dextrothyroxine(DB00509)|Digoxin(DB00390)|Dinoprostone(DB00917)|Estradiol(DB00783)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)	CGCCCAAGGGCATCCTGTTCT	0.647																																					Pancreas(168;741 2006 10379 40139 45334)	ENST00000217159.1																			0				endometrium(6)|kidney(2)|large_intestine(1)|lung(7)|ovary(3)|prostate(2)	21						c.(310-312)ggC>ggT		solute carrier organic anion transporter family, member 4A1							41	37	38					20																	61288118		2203	4299	6502	SO:0001819	synonymous_variant	28231				sodium-independent organic anion transport	integral to membrane|plasma membrane	thyroid hormone transmembrane transporter activity	g.chr20:61288118C>T	AB031051	CCDS13501.1	20q13.1	2013-05-22	2003-11-25	2003-11-26	ENSG00000101187	ENSG00000101187		"Solute carriers"	10953	protein-coding gene	gene with protein product		612436	"solute carrier family 21 (organic anion transporter), member 12"	SLC21A12		10873595	Standard	NM_016354		Approved	OATP-E, OATP4A1	uc002ydb.1	Q96BD0	OTTHUMG00000032923	ENST00000370507.1:c.312C>T	20.37:g.61288118C>T						SLCO4A1_ENST00000370507.1_Silent_p.G104G	p.G104G	NM_016354.3	NP_057438.3	Q96BD0	SO4A1_HUMAN	BRCA - Breast invasive adenocarcinoma(19;2.33e-06)		2	517	+	Breast(26;3.65e-08)		104					Q9H4T7|Q9H4T8|Q9H8P2|Q9NWX8|Q9UI35|Q9UIG7	Silent	SNP	ENST00000370507.1	37	c.312C>T	CCDS13501.1																																																																																				0.647	SLCO4A1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080048.2	NM_016354		3	17	0	0	0	1	0	3	17					T	61288118	C	T	61288118	2	4	286	1	0	0	0	0	0	0	0	1	14729	697	25	3		3	SLCO4A1	20	61288118	Silent	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	5447357	61288118	1737402	654	13784											
TCFL5	10732	broad.mit.edu	37	chr20	61492658	61492658	+	Frame_Shift_Del	DEL	C	C	-																															gctcctggaagtcgatgtggCccaggcagggcgcgtcggcc																										TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr20:61492658delC	ENST00000335351.3	-	1	457	c.365delG	c.(364-366)ggcfs	p.G122fs	TCFL5_ENST00000217162.5_Frame_Shift_Del_p.G74fs	NM_006602.2	NP_006593.2	Q9UL49	TCFL5_HUMAN	transcription factor-like 5 (basic helix-loop-helix)	122	Ala-rich.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|regulation of cell differentiation (GO:0045595)|regulation of cell proliferation (GO:0042127)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription from RNA polymerase II promoter (GO:0006366)	male germ cell nucleus (GO:0001673)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(1)|large_intestine(5)|lung(1)|urinary_tract(1)	9	Breast(26;5.68e-08)					GTCGATGTGGCCCAGGCAGGG	0.786																																						ENST00000335351.3																			0				breast(1)|endometrium(1)|large_intestine(5)|lung(1)|urinary_tract(1)	9						c.(364-366)gcfs		transcription factor-like 5 (basic helix-loop-helix)							2	2	2					20																	61492658		1420	2888	4308	SO:0001589	frameshift_variant	10732				cell differentiation|multicellular organismal development|regulation of cell differentiation|regulation of cell proliferation|spermatogenesis|transcription from RNA polymerase II promoter		DNA binding|sequence-specific DNA binding transcription factor activity	g.chr20:61492658delC	AB012124	CCDS13506.1	20q13.33	2013-09-19			ENSG00000101190	ENSG00000101190		"Basic helix-loop-helix proteins"	11646	protein-coding gene	gene with protein product	"HPV-16 E2 binding protein 1"	604745				9763657	Standard	XM_005260185		Approved	Figlb, E2BP-1, CHA, bHLHe82	uc002ydp.3	Q9UL49	OTTHUMG00000032939	ENST00000335351.3:c.365delG	20.37:g.61492658delC	ENSP00000334294:p.Gly122fs					TCFL5_ENST00000217162.5_Frame_Shift_Del_p.G74fs	p.G122fs	NM_006602.2	NP_006593.2	Q9UL49	TCFL5_HUMAN			1	457	-	Breast(26;5.68e-08)		122			Ala-rich.		O94771|Q9BYW0	Frame_Shift_Del	DEL	ENST00000335351.3	37	c.365delG	CCDS13506.1																																																																																				0.786	TCFL5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080079.2	NM_006602		2	4						2	4	---	---	---	---	-	61492658	C	-	61492658	7	5	286	1	0	1	0	1	0	0	0	0	15696	739	26	0	1161	0	TCFL5	20	61492658	Frame_Shift_Del	DEL	C	TCGA-J9-A52C-01A-11D-A26M-08	204540	61492658	1532862	655	13785											
DIDO1	11083	broad.mit.edu	37	chr20	61513671	61513671	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttgaagtcgggtccgcttttCgtccatcttgtctaactctc	5	16	8	12	3	3	1	0	1	3	0	8	1	5	1	2	1	1	1	2	1	2	5			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr20:61513671C>T	ENST00000266070.4	-	16	3962	c.3637G>A	c.(3637-3639)Gaa>Aaa	p.E1213K	DIDO1_ENST00000395343.1_Missense_Mutation_p.E1213K	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	1213					apoptotic signaling pathway (GO:0097190)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					GTCCGCTTTTCGTCCATCTTG	0.493																																					Melanoma(25;381 482 3385 5362 7955 17159 17174 40604 47095)	ENST00000266070.4																			0				NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99						c.(3637-3639)Gaa>Aaa		death inducer-obliterator 1							105	111	109					20																	61513671		2203	4300	6503	SO:0001583	missense	11083				apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding	g.chr20:61513671C>T	AB002331	CCDS13508.2, CCDS13509.1, CCDS33506.1	20q13.33	2013-01-28	2005-11-11	2005-11-11	ENSG00000101191	ENSG00000101191		"Zinc fingers, PHD-type"	2680	protein-coding gene	gene with protein product		604140	"chromosome 20 open reading frame 158", "death associated transcription factor 1"	C20orf158, DATF1		10393935	Standard	NM_033081		Approved	DIO1, dJ885L7.8, FLJ11265, KIAA0333, DIO-1, BYE1	uc002ydr.2	Q9BTC0	OTTHUMG00000032945	ENST00000266070.4:c.3637G>A	20.37:g.61513671C>T	ENSP00000266070:p.Glu1213Lys					DIDO1_ENST00000395343.1_Missense_Mutation_p.E1213K	p.E1213K	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN			16	3962	-	Breast(26;5.68e-08)		1213					A8MY65|B9EH82|E1P5I1|O15043|Q3ZTL7|Q3ZTL8|Q4VXS1|Q4VXS2|Q4VXV8|Q4VXV9|Q96D72|Q9BQW0|Q9BW03|Q9H4G6|Q9H4G7|Q9NTU8|Q9NUM8|Q9UFB6	Missense_Mutation	SNP	ENST00000266070.4	37	c.3637G>A	CCDS33506.1	.	.	.	.	.	.	.	.	.	.	C	23.8	4.456957	0.84317	.	.	ENSG00000101191	ENST00000266070;ENST00000395343	T;T	0.10860	2.83;2.83	5.64	5.64	0.86602	.	0.000000	0.43416	D	0.000568	T	0.36524	0.0970	M	0.79805	2.47	0.80722	D	1	D	0.89917	1.0	D	0.66602	0.945	T	0.02464	-1.1155	10	0.45353	T	0.12	-49.4445	20.0627	0.97684	0.0:1.0:0.0:0.0	.	1213	Q9BTC0	DIDO1_HUMAN	K	1213	ENSP00000266070:E1213K;ENSP00000378752:E1213K	ENSP00000266070:E1213K	E	-	1	0	DIDO1	60984116	1.000000	0.71417	0.977000	0.42913	0.005000	0.04900	7.242000	0.78210	2.816000	0.96949	0.563000	0.77884	GAA		0.493	DIDO1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080091.2	NM_080796		21	73	0	0	0	1	0	21	73					T	61513671	C	T	61513671	3	4	286	1	0	0	0	0	1	0	0	0	4522	893	31	2	3089	2	DIDO1	20	61513671	Missense_Mutation	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	21013	61513671	1511849	656	13786											
YTHDF1	54915	broad.mit.edu	37	chr20	61834854	61834854	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	taggtgtagctgctcccataCgcggagctctgggtctgctg	5	11	14	11	2	2	0	0	0	2	0	3	1	3	1	1	3	5	5	1	3	3	3	rs563225888		TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr20:61834854C>T	ENST00000370339.3	-	4	779	c.438G>A	c.(436-438)gcG>gcA	p.A146A	YTHDF1_ENST00000370333.4_Silent_p.A96A|YTHDF1_ENST00000370334.4_Intron	NM_017798.3	NP_060268.2	Q9BYJ9	YTHD1_HUMAN	YTH domain family, member 1	146							N6-methyladenosine-containing RNA binding (GO:1990247)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)	24						TGCTCCCATACGCGGAGCTCT	0.592																																						ENST00000370339.3																			0				NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)	24						c.(436-438)gcG>gcA		YTH domain family, member 1							46	41	43					20																	61834854		2203	4299	6502	SO:0001819	synonymous_variant	54915							g.chr20:61834854C>T	AK000398	CCDS13511.1	20q13.33	2010-03-15	2004-11-16	2004-06-04	ENSG00000149658	ENSG00000149658			15867	protein-coding gene	gene with protein product			"YTH domain family 1"	C20orf21			Standard	NM_017798		Approved	FLJ20391	uc002yeh.3	Q9BYJ9	OTTHUMG00000032955	ENST00000370339.3:c.438G>A	20.37:g.61834854C>T						YTHDF1_ENST00000370334.4_Intron|YTHDF1_ENST00000370333.4_Silent_p.A96A	p.A146A	NM_017798.3	NP_060268.2	Q9BYJ9	YTHD1_HUMAN			4	779	-			146					Q8N3G5|Q8TBT1|Q96AN4|Q96S57|Q9BTI7|Q9NX79	Silent	SNP	ENST00000370339.3	37	c.438G>A	CCDS13511.1	.	.	.	.	.	.	.	.	.	.	C	3.417	-0.118893	0.06838	.	.	ENSG00000149658	ENST00000342761	.	.	.	5.15	-10.3	0.00346	.	.	.	.	.	T	0.48926	0.1527	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.67914	-0.5547	5	0.87932	D	0	-24.219	2.2379	0.04012	0.1097:0.1892:0.3761:0.325	.	.	.	.	H	45	.	ENSP00000339489:R45H	R	-	2	0	YTHDF1	61305299	0.000000	0.05858	0.010000	0.14722	0.779000	0.44077	-4.404000	0.00239	-4.566000	0.00042	-2.554000	0.00176	CGT		0.592	YTHDF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080110.2	NM_017798		4	35	0	0	0	1	0	4	35					T	61834854	C	T	61834854	2	4	286	1	0	0	0	0	0	0	0	1	17495	523	19	1		1	YTHDF1	20	61834854	Silent	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	321183	61834854	1190666	657	13787											
CHRNA4	1137	broad.mit.edu	37	chr20	61981807	61981808	+	Frame_Shift_Ins	INS	-	-	G																															gaccgtgatgacgatggacaINSgggtgacgaagatcatggtg																										TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr20:61981807_61981808insG	ENST00000370263.4	-	5	1176_1177	c.955_956insC	c.(955-957)ctgfs	p.L319fs	CHRNA4_ENST00000463705.1_5'UTR	NM_000744.6|NM_001256573.1	NP_000735.1|NP_001243502.1	P43681	ACHA4_HUMAN	cholinergic receptor, nicotinic, alpha 4 (neuronal)	319					action potential (GO:0001508)|B cell activation (GO:0042113)|behavioral response to nicotine (GO:0035095)|calcium ion transport (GO:0006816)|cation transmembrane transport (GO:0098655)|cognition (GO:0050890)|DNA repair (GO:0006281)|exploration behavior (GO:0035640)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|locomotory behavior (GO:0007626)|membrane depolarization (GO:0051899)|neurological system process (GO:0050877)|regulation of dopamine secretion (GO:0014059)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of membrane potential (GO:0042391)|respiratory gaseous exchange (GO:0007585)|response to hypoxia (GO:0001666)|response to nicotine (GO:0035094)|response to oxidative stress (GO:0006979)|sensory perception of pain (GO:0019233)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, cholinergic (GO:0007271)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|ligand-gated ion channel activity (GO:0015276)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(19)|prostate(3)|skin(3)|soft_tissue(1)	33	all_cancers(38;1.71e-10)				Amobarbital(DB01351)|Aprobarbital(DB01352)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Dextromethorphan(DB00514)|Galantamine(DB00674)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Methylphenobarbital(DB00849)|Nicotine(DB00184)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Primidone(DB00794)|Secobarbital(DB00418)|Talbutal(DB00306)|Thiopental(DB00599)|Varenicline(DB01273)	GACGATGGACAGGGTGACGAAG	0.599																																						ENST00000370263.4																			0				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(19)|prostate(3)|skin(3)|soft_tissue(1)	33						c.(955-957)gtcfs		cholinergic receptor, nicotinic, alpha 4 (neuronal)	Nicotine(DB00184)|Varenicline(DB01273)																																			SO:0001589	frameshift_variant	1137				B cell activation|behavioral response to nicotine|calcium ion transport|cognition|DNA repair|membrane depolarization|regulation of action potential|regulation of dopamine secretion|regulation of inhibitory postsynaptic membrane potential|response to hypoxia|response to oxidative stress|sensory perception of pain|synaptic transmission, cholinergic	cell junction|dendrite|external side of plasma membrane|membrane fraction|neuronal cell body|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity	g.chr20:61981807_61981808insG		CCDS13517.1	20q13.33	2013-09-20	2012-02-07		ENSG00000101204	ENSG00000101204		"Cholinergic receptors", "Ligand-gated ion channels / Acetylcholine receptors, nicotinic"	1958	protein-coding gene	gene with protein product	"acetylcholine receptor, nicotinic, alpha 4 (neuronal)"	118504	"cholinergic receptor, nicotinic, alpha polypeptide 4"	EBN, EBN1		1505988	Standard	NM_000744		Approved	BFNC	uc002yes.3	P43681	OTTHUMG00000033080	ENST00000370263.4:c.956dupC	20.37:g.61981810_61981810dupG	ENSP00000359285:p.Leu319fs					CHRNA4_ENST00000463705.1_5'UTR	p.V319fs	NM_000744.6|NM_001256573.1	NP_000735.1|NP_001243502.1	P43681	ACHA4_HUMAN			5	1176_1177	-	all_cancers(38;1.71e-10)		319					Q4JGR7|Q4VAQ5|Q4VAQ6	Frame_Shift_Ins	INS	ENST00000370263.4	37	c.955_956insC	CCDS13517.1																																																																																				0.599	CHRNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080508.3			14	90						14	90	---	---	---	---	G	61981808	-	G	61981807	7	5	286	1	0	1	1	0	0	0	0	0	3385	188	7	0	935	0	CHRNA4	20	61981807	Frame_Shift_Ins	INS	-	TCGA-J9-A52C-01A-11D-A26M-08	146953	61981807	1043713	658	13788											
KCNQ2	3785	broad.mit.edu	37	chr20	62078121	62078121	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aggatgtagagggccccctcCgagctcttctcatactcctt	7	11	9	14	1	2	1	1	0	2	1	5	3	4	2	4	2	2	2	4	2	2	4			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr20:62078121C>T	ENST00000359125.2	-	2	540	c.366G>A	c.(364-366)tcG>tcA	p.S122S	KCNQ2_ENST00000357249.2_Silent_p.S122S|RP11-358D14.2_ENST00000436263.1_RNA|KCNQ2_ENST00000354587.3_Silent_p.S122S|KCNQ2_ENST00000360480.3_Silent_p.S122S|KCNQ2_ENST00000344425.5_Silent_p.S122S|KCNQ2_ENST00000344462.4_Silent_p.S122S|KCNQ2_ENST00000370224.1_Silent_p.S122S|KCNQ2_ENST00000359689.1_Silent_p.S122S	NM_172107.2	NP_742105.1	O43526	KCNQ2_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 2	122					axon guidance (GO:0007411)|nervous system development (GO:0007399)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)|transmission of nerve impulse (GO:0019226)	axon initial segment (GO:0043194)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	ankyrin binding (GO:0030506)|delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)			biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|liver(1)|lung(30)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65	all_cancers(38;1.24e-11)		BRCA - Breast invasive adenocarcinoma(10;1.04e-05)		Amitriptyline(DB00321)|Diclofenac(DB00586)|Ezogabine(DB04953)|Meclofenamic acid(DB00939)	GGGCCCCCTCCGAGCTCTTCT	0.632																																						ENST00000354587.3																			0				biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|liver(1)|lung(30)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65						c.(364-366)tcG>tcA		potassium voltage-gated channel, KQT-like subfamily, member 2	Amitriptyline(DB00321)						55	57	56					20																	62078121		2203	4300	6503	SO:0001819	synonymous_variant	3785				axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr20:62078121C>T	AF033348	CCDS13518.1, CCDS13519.1, CCDS13520.1, CCDS13521.1, CCDS46629.1	20q13.33	2012-07-05			ENSG00000075043	ENSG00000075043		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6296	protein-coding gene	gene with protein product		602235		EBN, EBN1		9425895, 16382104	Standard	NM_172107		Approved	Kv7.2, ENB1, BFNC, KCNA11, HNSPC	uc002yex.3	O43526	OTTHUMG00000033049	ENST00000359125.2:c.366G>A	20.37:g.62078121C>T						KCNQ2_ENST00000430658.1_Silent_p.S122S|KCNQ2_ENST00000357249.2_Silent_p.S122S|KCNQ2_ENST00000344425.5_Silent_p.S122S|KCNQ2_ENST00000359689.1_Silent_p.S122S|KCNQ2_ENST00000370226.1_Silent_p.S122S|KCNQ2_ENST00000359125.2_Silent_p.S122S|KCNQ2_ENST00000370221.1_Silent_p.S122S|KCNQ2_ENST00000370222.3_Silent_p.S122S|KCNQ2_ENST00000370224.1_Silent_p.S122S|KCNQ2_ENST00000360480.3_Silent_p.S122S|KCNQ2_ENST00000344462.3_Silent_p.S122S	p.S122S			O43526	KCNQ2_HUMAN	BRCA - Breast invasive adenocarcinoma(10;1.04e-05)		2	542	-	all_cancers(38;1.24e-11)		122					O43796|O75580|O95845|Q4VXP4|Q4VXR6|Q5VYT8|Q96J59|Q99454	Silent	SNP	ENST00000359125.2	37	c.366G>A	CCDS13520.1																																																																																				0.632	KCNQ2-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000080353.1	NM_172109		6	39	0	0	0	1	0	6	39					T	62078121	C	T	62078121	2	4	286	1	0	0	0	0	0	0	0	1	8083	639	23	2		2	KCNQ2	20	62078121	Silent	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	96314	62078121	947399	659	13789											
BAGE2	85319	broad.mit.edu	37	chr21	11058322	11058322	+	RNA	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agtgcttacaaaatgcacatCgctgaaaggggtaaaggaga	16	7	12	6	1	0	2	0	1	0	1	1	3	0	2	0	3	3	4	0	3	6	2			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr21:11058322C>T	ENST00000470054.1	-	0	325							Q86Y30	BAGE2_HUMAN	B melanoma antigen family, member 2							extracellular region (GO:0005576)								Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		AAATGCACATCGCTGAAAGGG	0.383																																						ENST00000470054.1																			0													B melanoma antigen family, member 2							92	70	77					21																	11058322		692	1591	2283			85319							g.chr21:11058322C>T	AF218570		21p	2009-03-13			ENSG00000187172	ENSG00000187172			15723	protein-coding gene	gene with protein product	"cancer/testis antigen family 2, member 2"					12461691	Standard	NM_182482		Approved	CT2.2		Q86Y30	OTTHUMG00000074128		21.37:g.11058322C>T												Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	0	325	-								A8K925|Q08ER0	RNA	SNP	ENST00000470054.1	37																																																																																						0.383	BAGE2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000157417.3	NM_182482		13	103	0	0	0	1	0	13	103					T	11058322	C	T	11058322	1	4	286	0	1	0	0	0	0	0	0	0	1292	898	31	2		2	BAGE2	21	11058322	RNA	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08		11058322	37071573	660	13790											
MORC3	23515	broad.mit.edu	37	chr21	37741614	37741614	+	Frame_Shift_Del	DEL	A	A	-																															aagtaccaagtttagttgttAaaaaagaagaaactgttgaa																										TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr21:37741614delA	ENST00000400485.1	+	15	2024	c.1948delA	c.(1948-1950)aaafs	p.K651fs	MORC3_ENST00000487909.1_3'UTR	NM_015358.2	NP_056173.1	Q14149	MORC3_HUMAN	MORC family CW-type zinc finger 3	651					cell aging (GO:0007569)|maintenance of protein location in nucleus (GO:0051457)|negative regulation of fibroblast proliferation (GO:0048147)|peptidyl-serine phosphorylation (GO:0018105)|post-embryonic development (GO:0009791)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)	PML body (GO:0016605)	zinc ion binding (GO:0008270)			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(9)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	35						TTTAGTTGTTAAAAAAGAAGA	0.448																																						ENST00000400485.1																			0				breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(9)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	35						c.(1948-1950)aafs		MORC family CW-type zinc finger 3							111	108	109					21																	37741614		1942	4149	6091	SO:0001589	frameshift_variant	23515				cell aging|maintenance of protein location in nucleus|negative regulation of fibroblast proliferation|peptidyl-serine phosphorylation|protein stabilization	aggresome|intermediate filament cytoskeleton|PML body	ATP binding|zinc ion binding	g.chr21:37741614delA	AK025327	CCDS42924.1	21q22.13	2005-06-15	2005-06-15	2005-06-15	ENSG00000159256	ENSG00000159256			23572	protein-coding gene	gene with protein product		610078	"zinc finger, CW-type with coiled-coil domain 3", "zinc finger, CW type with coiled-coil domain 3"	ZCWCC3		14607086	Standard	NM_015358		Approved	ZCW5, NXP2, KIAA0136	uc002yvi.3	Q14149	OTTHUMG00000086620	ENST00000400485.1:c.1948delA	21.37:g.37741614delA	ENSP00000383333:p.Lys651fs					MORC3_ENST00000487909.1_3'UTR	p.K651fs	NM_015358.2	NP_056173.1	Q14149	MORC3_HUMAN			15	2024	+			651					A8KA92|Q9UEZ2	Frame_Shift_Del	DEL	ENST00000400485.1	37	c.1948delA	CCDS42924.1																																																																																				0.448	MORC3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000194640.1	NM_015358		15	68						15	68	---	---	---	---	-	37741614	A	-	37741614	7	5	286	1	0	1	0	1	0	0	0	0	9703	363	13	0	2006	0	MORC3	21	37741614	Frame_Shift_Del	DEL	A	TCGA-J9-A52C-01A-11D-A26M-08	26683292	37741614	10388281	661	13791											
HLCS	3141	broad.mit.edu	37	chr21	38302558	38302558	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcccacaactcacctccgcaGctgacagcaagtaaagagga	14	4	9	14	1	1	2	1	1	0	1	2	3	2	3	3	1	3	4	3	1	4	1			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr21:38302558G>A	ENST00000399120.1	-	6	2402	c.1172C>T	c.(1171-1173)gCt>gTt	p.A391V	HLCS_ENST00000482273.1_5'UTR|HLCS_ENST00000336648.4_Missense_Mutation_p.A391V	NM_001242784.1	NP_001229713.1	P50747	BPL1_HUMAN	holocarboxylase synthetase (biotin-(proprionyl-CoA-carboxylase (ATP-hydrolysing)) ligase)	391					biotin metabolic process (GO:0006768)|cell proliferation (GO:0008283)|histone biotinylation (GO:0071110)|histone modification (GO:0016570)|protein biotinylation (GO:0009305)|response to biotin (GO:0070781)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nuclear lamina (GO:0005652)|nuclear matrix (GO:0016363)	ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin-[acetyl-CoA-carboxylase] ligase activity (GO:0004077)|biotin-[methylcrotonoyl-CoA-carboxylase] ligase activity (GO:0004078)|biotin-[methylmalonyl-CoA-carboxytransferase] ligase activity (GO:0004079)|biotin-[propionyl-CoA-carboxylase (ATP-hydrolyzing)] ligase activity (GO:0004080)|biotin-protein ligase activity (GO:0018271)|enzyme binding (GO:0019899)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|liver(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(46;0.0422)			Biotin(DB00121)	CACCTCCGCAGCTGACAGCAA	0.498																																						ENST00000399120.1																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|liver(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	24						c.(1171-1173)gCt>gTt		holocarboxylase synthetase (biotin-(proprionyl-CoA-carboxylase (ATP-hydrolysing)) ligase)	Biotin(DB00121)						78	71	73					21																	38302558		2203	4300	6503	SO:0001583	missense	3141				cell proliferation|histone biotinylation|response to biotin	chromatin|cytosol|mitochondrion|nuclear lamina|nuclear matrix	ATP binding|biotin binding|biotin-[acetyl-CoA-carboxylase] ligase activity|biotin-[methylcrotonoyl-CoA-carboxylase] ligase activity|biotin-[methylmalonyl-CoA-carboxytransferase] ligase activity|biotin-[propionyl-CoA-carboxylase (ATP-hydrolyzing)] ligase activity|enzyme binding	g.chr21:38302558G>A		CCDS13647.1	21q22.1	2012-07-13	2010-04-30		ENSG00000159267	ENSG00000159267	6.3.4.9, 6.3.4.10, 6.3.4.11, 6.3.4.15		4976	protein-coding gene	gene with protein product		609018	"holocarboxylase synthetase (biotin-[proprionyl-Coenzyme A-carboxylase (ATP-hydrolysing)] ligase)", "holocarboxylase synthetase (biotin-(proprionyl-Coenzyme A-carboxylase (ATP-hydrolysing)) ligase)"			7842009	Standard	NM_000411		Approved	HCS	uc021wjb.1	P50747	OTTHUMG00000086636	ENST00000399120.1:c.1172C>T	21.37:g.38302558G>A	ENSP00000382071:p.Ala391Val					HLCS_ENST00000482273.1_5'UTR|HLCS_ENST00000336648.3_Missense_Mutation_p.A391V	p.A391V	NM_001242784.1	NP_001229713.1	P50747	BPL1_HUMAN			6	2402	-		Myeloproliferative disorder(46;0.0422)	391					B2RAH1|D3DSG6|Q99451	Missense_Mutation	SNP	ENST00000399120.1	37	c.1172C>T	CCDS13647.1	.	.	.	.	.	.	.	.	.	.	G	13.01	2.108991	0.37242	.	.	ENSG00000159267	ENST00000399120;ENST00000336648	D;D	0.98135	-4.74;-4.74	5.14	2.37	0.29283	.	0.344540	0.33959	N	0.004398	D	0.93400	0.7895	L	0.27053	0.805	0.09310	N	1	B;B	0.13145	0.007;0.003	B;B	0.12156	0.007;0.006	D	0.84472	0.0600	10	0.27785	T	0.31	.	10.2029	0.43097	0.2178:0.0:0.7822:0.0	.	391;391	B2RAH1;P50747	.;BPL1_HUMAN	V	391	ENSP00000382071:A391V;ENSP00000338387:A391V	ENSP00000338387:A391V	A	-	2	0	HLCS	37224428	0.065000	0.20965	0.001000	0.08648	0.035000	0.12851	2.413000	0.44618	0.286000	0.22352	0.650000	0.86243	GCT		0.498	HLCS-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194687.2			8	51	0	0	0	1	0	8	51					A	38302558	G	A	38302558	3	1	286	1	0	0	0	0	1	0	0	0	7213	971	34	3	1036	3	HLCS	21	38302558	Missense_Mutation	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	560944	38302558	9827337	662	13792											
DYRK1A	1859	broad.mit.edu	37	chr21	38862610	38862610	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aacctaacacgaaagtttgcGcaacagatgtgcactgcact	14	8	8	11	2	0	1	0	0	0	1	0	2	0	1	1	0	6	4	1	0	4	2			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr21:38862610G>A	ENST00000398960.2	+	6	873	c.798G>A	c.(796-798)gcG>gcA	p.A266A	DYRK1A_ENST00000339659.4_Silent_p.A257A|DYRK1A_ENST00000398956.2_Silent_p.A266A|DYRK1A_ENST00000321219.8_Silent_p.A266A|DYRK1A_ENST00000338785.3_Silent_p.A266A|DYRK1A_ENST00000451934.1_Silent_p.A266A|DYRK1A_ENST00000455387.2_Silent_p.A38A	NM_001396.3|NM_130438.2	NP_001387.2|NP_569122.1	Q13627	DYR1A_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1A	266	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.			A -> V (in Ref. 6; CAA05059). {ECO:0000305}.	circadian rhythm (GO:0007623)|mitotic cell cycle (GO:0000278)|negative regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043518)|nervous system development (GO:0007399)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of protein deacetylation (GO:0090312)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)	nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase activity (GO:0004672)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)|tau protein binding (GO:0048156)			breast(4)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	42						GAAAGTTTGCGCAACAGATGT	0.413																																					Melanoma(114;464 1602 31203 43785 45765)	ENST00000339659.3																			0				breast(4)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	42						c.(769-771)gcG>gcA		dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1A							101	93	96					21																	38862610		2203	4299	6502	SO:0001819	synonymous_variant	1859				nervous system development|peptidyl-tyrosine phosphorylation|protein autophosphorylation	nuclear speck	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding|protein self-association|protein serine/threonine kinase activity	g.chr21:38862610G>A	U52373	CCDS13653.1, CCDS13654.1, CCDS42925.1, CCDS42926.1	21q22.13	2010-04-21			ENSG00000157540	ENSG00000157540			3091	protein-coding gene	gene with protein product		600855		DYRK1, DYRK, MNBH		9284911	Standard	NM_130436		Approved		uc002ywk.3	Q13627	OTTHUMG00000086657	ENST00000398960.2:c.798G>A	21.37:g.38862610G>A						DYRK1A_ENST00000451934.1_Silent_p.A266A|DYRK1A_ENST00000398956.2_Silent_p.A266A|DYRK1A_ENST00000455387.2_Silent_p.A38A|DYRK1A_ENST00000338785.3_Silent_p.A266A|DYRK1A_ENST00000321219.8_Silent_p.A266A|DYRK1A_ENST00000398960.2_Silent_p.A266A	p.A257A	NM_130436.2	NP_569120.1	Q13627	DYR1A_HUMAN			6	2241	+			266			Protein kinase.		O60769|Q92582|Q92810|Q9UNM5	Silent	SNP	ENST00000398960.2	37	c.771G>A	CCDS42925.1																																																																																				0.413	DYRK1A-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194804.1	NM_001396		9	30	0	0	0	1	0	9	30					A	38862610	G	A	38862610	2	1	286	1	0	0	0	0	0	0	0	1	4854	1074	38	1		1	DYRK1A	21	38862610	Silent	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	560052	38862610	9267285	663	13793											
C21orf70	85395	broad.mit.edu	37	chr21	46363698	46363698	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acgtgaggagtgtcacttccGtcaggagaggtgaggcaggc	9	7	17	8	2	2	3	2	2	0	1	3	5	3	4	1	5	0	1	1	5	0	1	rs576306304	byFrequency	TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr21:46363698G>A	ENST00000291634.6	+	2	277	c.229G>A	c.(229-231)Gtc>Atc	p.V77I	FAM207A_ENST00000397826.3_Missense_Mutation_p.V77I	NM_058190.2	NP_478070.1	Q9NSI2	F207A_HUMAN	family with sequence similarity 207, member A	77																	TGTCACTTCCGTCAGGAGAGG	0.597													G|||	4	0.000798722	0.003	0	5008	,	,		21070	0		0	False		,,,				2504	0					ENST00000291634.6																			0											c.(229-231)Gtc>Atc		family with sequence similarity 207, member A							103	80	88					21																	46363698		2203	4300	6503	SO:0001583	missense	85395							g.chr21:46363698G>A		CCDS13718.1	21q22.3	2011-08-15	2011-08-15	2011-08-15	ENSG00000160256	ENSG00000160256			15811	protein-coding gene	gene with protein product			"chromosome 21 open reading frame 70"	C21orf70			Standard	NM_058190		Approved	PRED56	uc002zgl.3	Q9NSI2	OTTHUMG00000090293	ENST00000291634.6:c.229G>A	21.37:g.46363698G>A	ENSP00000291634:p.Val77Ile					FAM207A_ENST00000397826.3_Missense_Mutation_p.V77I	p.V77I	NM_058190.2	NP_478070.1	Q9NSI2	CU070_HUMAN			2	277	+			77						Missense_Mutation	SNP	ENST00000291634.6	37	c.229G>A	CCDS13718.1	.	.	.	.	.	.	.	.	.	.	G	7.080	0.570111	0.13560	.	.	ENSG00000160256	ENST00000291634;ENST00000397826;ENST00000458015	T;T	0.44482	1.03;0.92	3.65	-5.28	0.02755	.	1.382410	0.05018	N	0.472261	T	0.22399	0.0540	N	0.20685	0.6	0.09310	N	1	B;B	0.17667	0.023;0.023	B;B	0.14578	0.007;0.011	T	0.16600	-1.0397	10	0.16420	T	0.52	-9.9724	5.8401	0.18629	0.3963:0.3579:0.2458:0.0	.	77;77	Q9NSI2-2;Q9NSI2	.;F207A_HUMAN	I	77	ENSP00000291634:V77I;ENSP00000380926:V77I	ENSP00000291634:V77I	V	+	1	0	C21orf70	45188126	0.000000	0.05858	0.000000	0.03702	0.299000	0.27559	-3.082000	0.00613	-1.323000	0.02275	-0.253000	0.11424	GTC		0.597	FAM207A-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000206639.1	NM_058190		10	43	0	0	0	1	0	10	43					A	46363698	G	A	46363698	3	1	286	1	0	0	0	0	1	0	0	0	2133	1145	40	1	235	1	C21orf70	21	46363698	Missense_Mutation	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	7501088	46363698	1766197	664	13794											
COL6A1	1291	broad.mit.edu	37	chr21	47407560	47407560	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cggggctccggggcgaccccGgctttgaggtgagtggtgac	4	7	19	11	4	0	3	0	3	0	0	1	4	1	3	3	7	0	2	3	7	0	1			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr21:47407560G>A	ENST00000361866.3	+	8	910	c.796G>A	c.(796-798)Ggc>Agc	p.G266S		NM_001848.2	NP_001839.2	P12109	CO6A1_HUMAN	collagen, type VI, alpha 1	266	Triple-helical region.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|osteoblast differentiation (GO:0001649)|protein heterotrimerization (GO:0070208)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|protein complex (GO:0043234)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)	platelet-derived growth factor binding (GO:0048407)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33	all_hematologic(128;0.24)			Colorectal(79;0.0265)|READ - Rectum adenocarcinoma(84;0.0649)		GGGCGACCCCGGCTTTGAGGT	0.682																																						ENST00000361866.3																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33						c.(796-798)Ggc>Agc		collagen, type VI, alpha 1	Palifermin(DB00039)						33	44	40					21																	47407560		2199	4299	6498	SO:0001583	missense	1291				axon guidance|cell adhesion|protein heterotrimerization	collagen type VI|protein complex	platelet-derived growth factor binding	g.chr21:47407560G>A	M20776	CCDS13727.1	21q22.3	2014-09-17			ENSG00000142156	ENSG00000142156		"Collagens"	2211	protein-coding gene	gene with protein product		120220					Standard	XM_006723964		Approved		uc002zhu.1	P12109	OTTHUMG00000090440	ENST00000361866.3:c.796G>A	21.37:g.47407560G>A	ENSP00000355180:p.Gly266Ser						p.G266S	NM_001848.2	NP_001839.2	P12109	CO6A1_HUMAN		Colorectal(79;0.0265)|READ - Rectum adenocarcinoma(84;0.0649)	8	910	+	all_hematologic(128;0.24)		266			Triple-helical region.		O00117|O00118|Q14040|Q14041|Q16258|Q7Z645|Q9BSA8	Missense_Mutation	SNP	ENST00000361866.3	37	c.796G>A	CCDS13727.1	.	.	.	.	.	.	.	.	.	.	G	17.06	3.291716	0.59976	.	.	ENSG00000142156	ENST00000361866;ENST00000538397	D	0.99329	-5.75	3.92	3.92	0.45320	.	0.224851	0.37623	N	0.002016	D	0.99536	0.9834	H	0.97186	3.955	0.53688	D	0.999973	D	0.89917	1.0	D	0.76071	0.987	D	0.98336	1.0536	10	0.66056	D	0.02	-40.9949	10.0815	0.42393	0.0947:0.0:0.9053:0.0	.	266	P12109	CO6A1_HUMAN	S	266	ENSP00000355180:G266S	ENSP00000355180:G266S	G	+	1	0	COL6A1	46231988	1.000000	0.71417	0.502000	0.27614	0.234000	0.25298	7.211000	0.77933	1.888000	0.54679	0.313000	0.20887	GGC		0.682	COL6A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206877.1	NM_001848		10	62	0	0	0	1	0	10	62					A	47407560	G	A	47407560	3	1	286	1	0	0	0	0	1	0	0	0	3699	1116	39	2	826	2	COL6A1	21	47407560	Missense_Mutation	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	1043862	47407560	722335	665	13795											
DGCR8	54487	broad.mit.edu	37	chr22	20073512	20073512	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gacagatgagagcccctctcCgctcccgtgtgggcccgcag	6	6	13	16	3	1	2	0	1	1	2	3	4	2	2	5	1	1	2	5	1	0	0			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr22:20073512C>T	ENST00000351989.3	+	2	455	c.26C>T	c.(25-27)cCg>cTg	p.P9L	MIR1306_ENST00000408439.1_RNA|MIR3618_ENST00000580330.1_RNA|DGCR8_ENST00000407755.1_Missense_Mutation_p.P9L|DGCR8_ENST00000383024.2_Missense_Mutation_p.P9L	NM_022720.6	NP_073557.3	Q8WYQ5	DGCR8_HUMAN	DGCR8 microprocessor complex subunit	9	Necessary for interaction with NCL.|Necessary for nuclear localization and retention.				gene expression (GO:0010467)|primary miRNA processing (GO:0031053)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)			NS(2)|breast(1)|endometrium(5)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	22	Colorectal(54;0.0993)					AGCCCCTCTCCGCTCCCGTGT	0.557																																						ENST00000351989.3																			0				NS(2)|breast(1)|endometrium(5)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	22						c.(25-27)cCg>cTg		DGCR8 microprocessor complex subunit							64	78	73					22																	20073512		2203	4299	6502	SO:0001583	missense	54487				primary miRNA processing	cytoplasm|microtubule cytoskeleton|nucleolus|nucleoplasm	double-stranded RNA binding|metal ion binding|protein binding	g.chr22:20073512C>T	AF165527, AB050770	CCDS13773.1, CCDS54501.1	22q11.2	2013-05-02	2013-05-02		ENSG00000128191	ENSG00000128191			2847	protein-coding gene	gene with protein product		609030	"chromosome 22 open reading frame 12", "DiGeorge syndrome critical region gene 8"	C22orf12		21454614	Standard	NM_001190326		Approved	DGCRK6, Gy1, pasha	uc002zri.3	Q8WYQ5	OTTHUMG00000150503	ENST00000351989.3:c.26C>T	22.37:g.20073512C>T	ENSP00000263209:p.Pro9Leu					DGCR8_ENST00000383024.2_Missense_Mutation_p.P9L|DGCR8_ENST00000407755.1_Missense_Mutation_p.P9L	p.P9L	NM_022720.6	NP_073557.3	Q8WYQ5	DGCR8_HUMAN			2	455	+	Colorectal(54;0.0993)		9			Necessary for interaction with NCL.|Necessary for nuclear localization and retention.		B2R8G1|Q6DCB2|Q6MZE9|Q6Y2L0|Q96G39|Q96GP8|Q9H6L8|Q9H6T7|Q9NRW2	Missense_Mutation	SNP	ENST00000351989.3	37	c.26C>T	CCDS13773.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.014701	0.75161	.	.	ENSG00000128191	ENST00000351989;ENST00000383024;ENST00000457069;ENST00000407755	T;T;T	0.40225	1.14;1.04;1.04	5.37	4.31	0.51392	.	0.048189	0.85682	N	0.000000	T	0.30198	0.0757	L	0.29908	0.895	0.80722	D	1	B;B	0.31989	0.35;0.238	B;B	0.23419	0.046;0.014	T	0.18493	-1.0335	10	0.87932	D	0	-4.4892	12.9432	0.58357	0.0:0.917:0.0:0.083	.	9;9	Q8WYQ5-3;Q8WYQ5	.;DGCR8_HUMAN	L	9	ENSP00000263209:P9L;ENSP00000372488:P9L;ENSP00000384726:P9L	ENSP00000263209:P9L	P	+	2	0	DGCR8	18453512	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	5.602000	0.67612	1.398000	0.46701	-0.367000	0.07326	CCG		0.557	DGCR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318654.1			14	104	0	0	0	1	0	14	104					T	20073512	C	T	20073512	3	4	286	1	0	0	0	0	1	0	0	0	4464	652	23	2	28	2	DGCR8	22	20073512	Missense_Mutation	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08		20073512	31231054	666	13796											
AIFM3	150209	broad.mit.edu	37	chr22	21330519	21330519	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcaggtggtcacagtggacGtgagaactaagaaggtcgtg	11	8	16	6	2	1	2	1	1	0	2	2	4	1	3	0	4	2	1	0	4	3	1	rs371705249		TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr22:21330519G>A	ENST00000399167.2	+	10	1063	c.823G>A	c.(823-825)Gtg>Atg	p.V275M	AIFM3_ENST00000465606.1_3'UTR|AIFM3_ENST00000399163.2_Missense_Mutation_p.V275M|AIFM3_ENST00000335375.5_Missense_Mutation_p.V263M|AIFM3_ENST00000333607.6_Missense_Mutation_p.V275M|AIFM3_ENST00000405089.1_Missense_Mutation_p.V281M|AIFM3_ENST00000440238.2_Missense_Mutation_p.V275M	NM_144704.2	NP_653305.1	Q96NN9	AIFM3_HUMAN	apoptosis-inducing factor, mitochondrion-associated, 3	275					cell redox homeostasis (GO:0045454)|execution phase of apoptosis (GO:0097194)	endoplasmic reticulum (GO:0005783)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	2 iron, 2 sulfur cluster binding (GO:0051537)|flavin adenine dinucleotide binding (GO:0050660)|metal ion binding (GO:0046872)|oxidoreductase activity (GO:0016491)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	21	all_cancers(11;3.71e-26)|all_epithelial(7;1.59e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0367)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)			CACAGTGGACGTGAGAACTAA	0.607																																						ENST00000399167.2																			0				breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	21						c.(823-825)Gtg>Atg		apoptosis-inducing factor, mitochondrion-associated, 3		G	MET/VAL,MET/VAL,MET/VAL	1,4403	2.1+/-5.4	0,1,2201	99	79	86		823,841,823	4.2	1	22		86	0,8600		0,0,4300	no	missense,missense,missense	AIFM3	NM_001018060.2,NM_001146288.1,NM_144704.2	21,21,21	0,1,6501	AA,AG,GG		0.0,0.0227,0.0077	,,	275/599,281/605,275/606	21330519	1,13003	2202	4300	6502	SO:0001583	missense	150209							g.chr22:21330519G>A	AK094844	CCDS13786.1, CCDS33605.1, CCDS54503.1	22q11.21	2007-05-03			ENSG00000183773	ENSG00000183773			26398	protein-coding gene	gene with protein product						15764604	Standard	NM_144704		Approved	AIFL, FLJ30473		Q96NN9	OTTHUMG00000150804	ENST00000399167.2:c.823G>A	22.37:g.21330519G>A	ENSP00000382120:p.Val275Met					AIFM3_ENST00000440238.2_Missense_Mutation_p.V275M|AIFM3_ENST00000465606.1_3'UTR|AIFM3_ENST00000405089.1_Missense_Mutation_p.V281M|AIFM3_ENST00000399163.2_Missense_Mutation_p.V275M|AIFM3_ENST00000335375.5_Missense_Mutation_p.V263M|AIFM3_ENST00000333607.6_Missense_Mutation_p.V275M	p.V275M	NM_144704.2	NP_653305.1			LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)		10	1063	+	all_cancers(11;3.71e-26)|all_epithelial(7;1.59e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0367)						B7WP37|D3DX37|D3DX38|Q6ZT44|Q8N1V3|Q8N5E0	Missense_Mutation	SNP	ENST00000399167.2	37	c.823G>A	CCDS13786.1	.	.	.	.	.	.	.	.	.	.	G	17.02	3.281736	0.59758	2.27E-4	0.0	ENSG00000183773	ENST00000399167;ENST00000399163;ENST00000405089;ENST00000335375;ENST00000440238;ENST00000333607	T;T;T;T;T;T	0.46819	0.86;0.86;0.86;0.86;0.86;0.86	4.15	4.15	0.48705	Pyridine nucleotide-disulphide oxidoreductase, FAD/NAD(P)-binding domain (1);	0.307999	0.32868	N	0.005560	T	0.54498	0.1862	M	0.70787	2.145	0.39915	D	0.97408	D;D;P;P;P	0.65815	0.995;0.985;0.934;0.934;0.947	P;P;P;P;P	0.54372	0.695;0.75;0.541;0.541;0.671	T	0.55623	-0.8112	10	0.33940	T	0.23	-1.4157	7.9975	0.30277	0.1101:0.0:0.8899:0.0	.	263;263;281;275;275	B7Z9S7;B7Z376;Q96NN9-2;Q96NN9-3;Q96NN9	.;.;.;.;AIFM3_HUMAN	M	275;275;281;263;275;275	ENSP00000382120:V275M;ENSP00000382116:V275M;ENSP00000385800:V281M;ENSP00000335369:V263M;ENSP00000390798:V275M;ENSP00000327671:V275M	ENSP00000327671:V275M	V	+	1	0	AIFM3	19660519	0.995000	0.38212	0.994000	0.49952	0.882000	0.50991	2.167000	0.42415	2.317000	0.78254	0.561000	0.74099	GTG		0.607	AIFM3-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000320150.1	NM_144704		3	17	0	0	0	1	0	3	17					A	21330519	G	A	21330519	3	1	286	1	0	0	0	0	1	0	0	0	428	1145	40	1	875	1	AIFM3	22	21330519	Missense_Mutation	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	1257007	21330519	29974047	667	13797											
EWSR1	2130	broad.mit.edu	37	chr22	29695246	29695246	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttgtggaaaccagaacttcGcctggagaacagagtgcaac	13	7	12	9	1	0	3	0	0	0	3	1	5	0	4	2	2	5	2	2	2	4	2			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr22:29695246G>A	ENST00000397938.2	+	15	1922	c.1603G>A	c.(1603-1605)Gcc>Acc	p.A535T	EWSR1_ENST00000331029.7_Missense_Mutation_p.A497T|EWSR1_ENST00000332050.6_Missense_Mutation_p.A462T|EWSR1_ENST00000406548.1_Missense_Mutation_p.A534T|EWSR1_ENST00000332035.6_Missense_Mutation_p.A479T|EWSR1_ENST00000414183.2_Missense_Mutation_p.A540T	NM_001163285.1|NM_001163286.1|NM_005243.3|NM_013986.3	NP_001156757.1|NP_001156758.1|NP_005234.1|NP_053733.2	Q01844	EWS_HUMAN	EWS RNA-binding protein 1	535					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)		EWSR1/ATF1(347)|EWSR1/POU5F1(10)|EWSR1/PBX1(3)|EWSR1/DDIT3(45)|EWSR1/FEV(11)|EWSR1/CREB1(44)|EWSR1/SMARCA5(2)|EWSR1/ETV4(6)|EWSR1/ERG(178)|EWSR1/ZNF384(4)|EWSR1/ETV1(7)|EWSR1/FLI1(2569)|EWSR1/NR4A3(146)|EWSR1/SP3(3)|EWSR1/PATZ1(2)|EWSR1/WT1(234)|EWSR1/NFATC2(9)	breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|liver(1)|lung(6)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						CCAGAACTTCGCCTGGAGAAC	0.517			T	"FLI1, ERG, ZNF278, NR4A3, FEV, ATF1, ETV1, ETV4, WT1, ZNF384, CREB1, POU5F1,  PBX1"	"Ewing sarcoma,  desmoplastic small round cell tumor , ALL, clear cell sarcoma, sarcoma, myoepithelioma"																																	ENST00000397938.2				Dom	yes		22	22q12	2130	T	Ewing sarcoma breakpoint region 1 (EWS)			"L, M"	"FLI1, ERG, ZNF278, NR4A3, FEV, ATF1, ETV1, ETV4, WT1, ZNF384, CREB1, POU5F1,  PBX1"		"Ewing sarcoma,  desmoplastic small round cell tumor , ALL, clear cell sarcoma, sarcoma, myoepithelioma"	EWSR1/ATF1(347)|EWSR1/POU5F1(10)|EWSR1/PBX1(3)|EWSR1/DDIT3(45)|EWSR1/FEV(11)|EWSR1/CREB1(44)|EWSR1/SMARCA5(2)|EWSR1/ETV4(6)|EWSR1/ERG(178)|EWSR1/ZNF384(4)|EWSR1/ETV1(7)|EWSR1/FLI1(2569)|EWSR1/NR4A3(146)|EWSR1/SP3(3)|EWSR1/PATZ1(2)|EWSR1/WT1(234)|EWSR1/NFATC2(9)	0				breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|liver(1)|lung(6)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						c.(1603-1605)Gcc>Acc		EWS RNA-binding protein 1							165	157	160					22																	29695246		2203	4300	6503	SO:0001583	missense	2130				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	calmodulin binding|nucleotide binding|RNA binding|zinc ion binding	g.chr22:29695246G>A		CCDS13851.1, CCDS13852.1, CCDS13852.2, CCDS54512.1, CCDS54513.1, CCDS54514.1	22q12.2	2013-05-24	2013-05-24		ENSG00000182944	ENSG00000182944		"RNA binding motif (RRM) containing"	3508	protein-coding gene	gene with protein product		133450	"Ewing sarcoma breakpoint region 1"			1522903	Standard	NM_005243		Approved	EWS	uc003aev.3	Q01844	OTTHUMG00000151107	ENST00000397938.2:c.1603G>A	22.37:g.29695246G>A	ENSP00000381031:p.Ala535Thr					EWSR1_ENST00000331029.7_Missense_Mutation_p.A497T|EWSR1_ENST00000406548.1_Missense_Mutation_p.A534T|EWSR1_ENST00000414183.2_Missense_Mutation_p.A540T|EWSR1_ENST00000332050.6_Missense_Mutation_p.A462T|EWSR1_ENST00000332035.6_Missense_Mutation_p.A479T	p.A535T	NM_001163285.1|NM_001163286.1|NM_005243.3|NM_013986.3	NP_001156757.1|NP_001156758.1|NP_005234.1|NP_053733.2	Q01844	EWS_HUMAN			15	1922	+			535					B0QYK1|Q5THL0|Q92635|Q96FE8|Q96MN4|Q96MX4|Q9BWA2	Missense_Mutation	SNP	ENST00000397938.2	37	c.1603G>A	CCDS13851.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	24.9|24.9	4.586529|4.586529	0.86851|0.86851	.|.	.|.	ENSG00000182944|ENSG00000182944	ENST00000332050;ENST00000397938;ENST00000406548;ENST00000331029;ENST00000414183;ENST00000332035|ENST00000360091	T;T;T;T;T;T|.	0.59364|.	0.27;0.27;0.27;0.27;0.27;0.27|.	5.36|5.36	4.34|4.34	0.51931|0.51931	Zinc finger, RanBP2-type (4);|.	0.135789|.	0.47852|.	U|.	0.000217|.	D|D	0.83866|0.83866	0.5347|0.5347	M|M	0.92604|0.92604	3.325|3.325	0.50313|0.50313	D|D	0.999866|0.999866	B;B;B;B;B|.	0.31153|.	0.202;0.095;0.31;0.095;0.095|.	B;B;B;B;B|.	0.18871|.	0.018;0.023;0.023;0.016;0.016|.	D|D	0.87753|0.87753	0.2593|0.2593	10|5	0.72032|.	D|.	0.01|.	.|.	13.9347|13.9347	0.64017|0.64017	0.0736:0.0:0.9264:0.0|0.0736:0.0:0.9264:0.0	.|.	479;534;479;540;535|.	Q96MN4;Q96FE8;B0QYK1;Q96MX4;Q01844|.	.;.;.;.;EWS_HUMAN|.	T|H	462;535;534;497;540;479|203	ENSP00000330896:A462T;ENSP00000381031:A535T;ENSP00000385726:A534T;ENSP00000330516:A497T;ENSP00000400142:A540T;ENSP00000331699:A479T|.	ENSP00000330516:A497T|.	A|R	+|+	1|2	0|0	EWSR1|EWSR1	28025246|28025246	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	4.430000|4.430000	0.59907|0.59907	1.258000|1.258000	0.44101|0.44101	0.462000|0.462000	0.41574|0.41574	GCC|CGC		0.517	EWSR1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000321345.1	NM_005243		30	137	0	0	0	1	0	30	137					A	29695246	G	A	29695246	3	1	286	1	0	0	0	0	1	0	0	0	5296	1087	38	1	1778	1	EWSR1	22	29695246	Missense_Mutation	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	8364727	29695246	21609320	668	13798											
AP1B1	162	broad.mit.edu	37	chr22	29754917	29754917	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcggatgcagcccatggtcCgcactgccagggctcggatg	6	6	15	14	4	0	0	0	0	0	0	2	2	1	2	3	4	3	3	3	4	0	0			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr22:29754917C>A	ENST00000405198.1	-	4	354	c.323G>T	c.(322-324)cGg>cTg	p.R108L	AP1B1_ENST00000356015.2_Missense_Mutation_p.R108L|AP1B1_ENST00000432560.2_Missense_Mutation_p.R108L|AP1B1_ENST00000357586.2_Missense_Mutation_p.R108L|AP1B1_ENST00000317368.7_Missense_Mutation_p.R108L|AP1B1_ENST00000415447.1_Missense_Mutation_p.R108L|AP1B1_ENST00000402502.1_Missense_Mutation_p.R108L			Q10567	AP1B1_HUMAN	adaptor-related protein complex 1, beta 1 subunit	108					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of defense response to virus by virus (GO:0050690)|viral process (GO:0016032)	clathrin adaptor complex (GO:0030131)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|Golgi membrane (GO:0000139)|lysosomal membrane (GO:0005765)|trans-Golgi network membrane (GO:0032588)	protein kinase binding (GO:0019901)|protein transporter activity (GO:0008565)|transporter activity (GO:0005215)			endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						GCCCATGGTCCGCACTGCCAG	0.622																																						ENST00000357586.2																			0				endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						c.(322-324)cGg>cTg		adaptor-related protein complex 1, beta 1 subunit							53	41	45					22																	29754917		2203	4300	6503	SO:0001583	missense	162				endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction	clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane	protein binding|protein transporter activity	g.chr22:29754917C>A	L13939	CCDS13855.1, CCDS13856.1, CCDS13856.2, CCDS54515.1	22q12.2	2010-06-18			ENSG00000100280	ENSG00000100280			554	protein-coding gene	gene with protein product		600157		ADTB1, CLAPB2		7987321, 8812422	Standard	NM_145730		Approved	BAM22, AP105A	uc003afj.3	Q10567	OTTHUMG00000151109	ENST00000405198.1:c.323G>T	22.37:g.29754917C>A	ENSP00000384194:p.Arg108Leu					AP1B1_ENST00000356015.2_Missense_Mutation_p.R108L|AP1B1_ENST00000405198.1_Missense_Mutation_p.R108L|AP1B1_ENST00000402502.1_Missense_Mutation_p.R108L|AP1B1_ENST00000432560.2_Missense_Mutation_p.R108L|AP1B1_ENST00000415447.1_Missense_Mutation_p.R108L|AP1B1_ENST00000317368.7_Missense_Mutation_p.R108L	p.R108L	NM_001127.3	NP_001118.3	Q10567	AP1B1_HUMAN			5	509	-			108					C9JRD1|F8WDL0|P78436|Q20WL3|Q86X54	Missense_Mutation	SNP	ENST00000405198.1	37	c.323G>T	CCDS13855.1	.	.	.	.	.	.	.	.	.	.	C	36	5.777885	0.96929	.	.	ENSG00000100280	ENST00000357586;ENST00000356015;ENST00000432560;ENST00000405198;ENST00000317368;ENST00000402502;ENST00000415447;ENST00000421126	T;T;T;T;T;T;T;T	0.33654	1.4;1.4;1.4;1.4;1.4;1.4;1.4;1.4	5.75	5.75	0.90469	Clathrin/coatomer adaptor, adaptin-like, N-terminal (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.77811	0.4186	H	0.98901	4.365	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;0.999	D;D;D;D	0.97110	1.0;0.999;0.998;0.978	D	0.86754	0.1962	10	0.87932	D	0	-25.7893	19.5368	0.95256	0.0:1.0:0.0:0.0	.	108;108;108;108	F8WDL0;Q10567-2;Q10567;Q10567-3	.;.;AP1B1_HUMAN;.	L	108	ENSP00000350199:R108L;ENSP00000348297:R108L;ENSP00000400065:R108L;ENSP00000384194:R108L;ENSP00000319361:R108L;ENSP00000386071:R108L;ENSP00000387612:R108L;ENSP00000400022:R108L	ENSP00000319361:R108L	R	-	2	0	AP1B1	28084917	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.738000	0.84966	2.720000	0.93068	0.655000	0.94253	CGG		0.622	AP1B1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000321374.1	NM_001127		3	17	1	0	1	1	1	3	17					A	29754917	C	A	29754917	3	1	286	1	0	0	0	0	1	0	0	0	731	652	23	5	2602	5	AP1B1	22	29754917	Missense_Mutation	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	59671	29754917	21549649	669	13799											
NIPSNAP1	8508	broad.mit.edu	37	chr22	29965224	29965224	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccacgtgttccagttgcccaCgagtgagcatgggtagtcct	7	10	12	12	2	0	1	0	1	0	0	2	2	2	1	4	1	2	4	4	1	1	3			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr22:29965224C>T	ENST00000216121.7	-	4	579	c.325G>A	c.(325-327)Gtg>Atg	p.V109M		NM_001202502.1|NM_003634.3	NP_001189431.1|NP_003625.2	Q9BPW8	NIPS1_HUMAN	nipsnap homolog 1 (C. elegans)	109					sensory perception of pain (GO:0019233)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|synaptic membrane (GO:0097060)	neurotransmitter binding (GO:0042165)	p.?(1)		large_intestine(2)|lung(2)|skin(1)	5						CAGTTGCCCACGAGTGAGCAT	0.637																																						ENST00000216121.7																			1	Unknown(1)	p.?(1)	lung(1)	large_intestine(2)|lung(2)|skin(1)	5						c.(325-327)Gtg>Atg		nipsnap homolog 1 (C. elegans)							153	87	109					22																	29965224		2203	4300	6503	SO:0001583	missense	8508							g.chr22:29965224C>T	AJ001258	CCDS13860.1	22q12	2013-09-12	2001-11-28		ENSG00000184117	ENSG00000184117			7827	protein-coding gene	gene with protein product	"4-nitrophenylphosphatase domain and non-neuronal SNAP25-like 1"	603249	"NIPSNAP, C. elegans, homolog 1"			9661659	Standard	NM_003634		Approved		uc003afx.4	Q9BPW8	OTTHUMG00000151294	ENST00000216121.7:c.325G>A	22.37:g.29965224C>T	ENSP00000216121:p.Val109Met						p.V109M	NM_001202502.1|NM_003634.3	NP_001189431.1|NP_003625.2	Q9BPW8	NIPS1_HUMAN			4	579	-			109					B2RAY3|O43800	Missense_Mutation	SNP	ENST00000216121.7	37	c.325G>A	CCDS13860.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	31|31	5.091841|5.091841	0.94149|0.94149	.|.	.|.	ENSG00000184117|ENSG00000184117	ENST00000415100|ENST00000216121	.|T	.|0.54279	.|0.58	4.13|4.13	4.13|4.13	0.48395|0.48395	.|Dimeric alpha-beta barrel (1);	.|0.057640	.|0.64402	.|N	.|0.000002	T|T	0.74749|0.74749	0.3757|0.3757	M|M	0.89214|0.89214	3.015|3.015	0.80722|0.80722	D|D	1|1	.|D;D	.|0.71674	.|0.998;0.992	.|P;P	.|0.62885	.|0.908;0.792	T|T	0.81965|0.81965	-0.0691|-0.0691	5|10	.|0.87932	.|D	.|0	-2.7325|-2.7325	16.6039|16.6039	0.84823|0.84823	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|89;109	.|B4DQI7;Q9BPW8	.|.;NIPS1_HUMAN	H|M	125|109	.|ENSP00000216121:V109M	.|ENSP00000216121:V109M	R|V	-|-	2|1	0|0	NIPSNAP1|NIPSNAP1	28295224|28295224	1.000000|1.000000	0.71417|0.71417	0.989000|0.989000	0.46669|0.46669	0.960000|0.960000	0.62799|0.62799	7.409000|7.409000	0.80053|0.80053	2.281000|2.281000	0.76405|0.76405	0.539000|0.539000	0.68188|0.68188	CGT|GTG		0.637	NIPSNAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322117.1			3	29	0	0	0	1	0	3	29					T	29965224	C	T	29965224	3	4	286	1	0	0	0	0	1	0	0	0	10429	536	19	1	557	1	NIPSNAP1	22	29965224	Missense_Mutation	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	210307	29965224	21339342	670	13800											
CABP7	164633	broad.mit.edu	37	chr22	30125184	30125184	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcacagccgaggagtgtccCgtggatgtggagagtgagtg	8	7	19	7	2	0	2	0	1	0	1	1	6	1	4	2	4	1	1	2	4	0	0	rs569823731		TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr22:30125184C>A	ENST00000216144.3	+	4	848	c.507C>A	c.(505-507)ccC>ccA	p.P169P		NM_182527.2	NP_872333.1	Q86V35	CABP7_HUMAN	calcium binding protein 7	169						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)	calcium ion binding (GO:0005509)			lung(1)|skin(3)	4			OV - Ovarian serous cystadenocarcinoma(5;0.00442)|Epithelial(10;0.215)|all cancers(5;0.233)			AGGAGTGTCCCGTGGATGTGG	0.637																																						ENST00000216144.3																			0				lung(1)|skin(3)	4						c.(505-507)ccC>ccA		calcium binding protein 7																																				SO:0001819	synonymous_variant	164633					Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|plasma membrane	calcium ion binding	g.chr22:30125184C>A	BC051805	CCDS13867.1	22q12.2	2013-01-10			ENSG00000100314	ENSG00000100314		"EF-hand domain containing"	20834	protein-coding gene	gene with protein product						11785943	Standard	NM_182527		Approved	MGC57793	uc003agl.3	Q86V35	OTTHUMG00000151282	ENST00000216144.3:c.507C>A	22.37:g.30125184C>A							p.P169P	NM_182527.2	NP_872333.1	Q86V35	CABP7_HUMAN	OV - Ovarian serous cystadenocarcinoma(5;0.00442)|Epithelial(10;0.215)|all cancers(5;0.233)		4	848	+			169						Silent	SNP	ENST00000216144.3	37	c.507C>A	CCDS13867.1																																																																																				0.637	CABP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322080.1	NM_182527		3	14	1	0	2.56e-06	1	2.5957e-06	3	14					A	30125184	C	A	30125184	2	1	286	1	0	0	0	0	0	0	0	1	2535	639	23	5		5	CABP7	22	30125184	Silent	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	159960	30125184	21179382	671	13801											
PATZ1	23598	broad.mit.edu	37	chr22	31723224	31723224	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cttctctggcgtcttcaggtCgctggcatctgagaggtcac	5	12	12	12	2	5	1	2	1	3	1	7	2	5	1	0	4	0	2	0	4	0	2			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr22:31723224C>T	ENST00000266269.5	-	5	2346	c.1717G>A	c.(1717-1719)Gac>Aac	p.D573N	PATZ1_ENST00000405309.3_3'UTR|PATZ1_ENST00000351933.4_Missense_Mutation_p.D527N|RP3-400N23.6_ENST00000440456.1_RNA	NM_014323.2	NP_055138.2	Q9HBE1	PATZ1_HUMAN	POZ (BTB) and AT hook containing zinc finger 1	573					male gonad development (GO:0008584)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|T cell differentiation (GO:0030217)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)		EWSR1/PATZ1(2)	NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(2)	12						GTCTTCAGGTCGCTGGCATCT	0.498																																						ENST00000266269.5																		EWSR1/PATZ1(2)	0				NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(2)	12						c.(1717-1719)Gac>Aac		POZ (BTB) and AT hook containing zinc finger 1							84	87	86					22																	31723224		2203	4300	6503	SO:0001583	missense	23598				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr22:31723224C>T	AL096880	CCDS13894.1, CCDS13895.1, CCDS13896.1, CCDS46691.1	22q12.2	2013-01-09	2006-09-19	2006-09-19	ENSG00000100105	ENSG00000100105		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	13071	protein-coding gene	gene with protein product		605165	"zinc finger protein 278"	ZNF278		10591208, 18241078, 18401526	Standard	NM_014323		Approved	MAZR, dJ400N23, ZBTB19, ZSG, RIAZ, PATZ	uc003akq.3	Q9HBE1	OTTHUMG00000151254	ENST00000266269.5:c.1717G>A	22.37:g.31723224C>T	ENSP00000266269:p.Asp573Asn					PATZ1_ENST00000405309.3_3'UTR|PATZ1_ENST00000351933.4_Missense_Mutation_p.D527N|RP3-400N23.6_ENST00000440456.1_RNA	p.D573N	NM_014323.2	NP_055138.2	Q9HBE1	PATZ1_HUMAN			5	2346	-			573					Q9HBE2|Q9HBE3|Q9P1A9|Q9UDU0|Q9Y529	Missense_Mutation	SNP	ENST00000266269.5	37	c.1717G>A	CCDS13894.1	.	.	.	.	.	.	.	.	.	.	C	23.1	4.375848	0.82682	.	.	ENSG00000100105	ENST00000266269;ENST00000351933	T;T	0.09911	2.93;2.97	5.8	5.8	0.92144	.	0.057348	0.64402	D	0.000002	T	0.19406	0.0466	L	0.27053	0.805	0.80722	D	1	D;D	0.76494	0.994;0.999	P;P	0.57324	0.652;0.818	T	0.00385	-1.1773	10	0.56958	D	0.05	-24.3951	19.0412	0.93000	0.0:1.0:0.0:0.0	.	527;573	Q9HBE1-3;Q9HBE1	.;PATZ1_HUMAN	N	573;527	ENSP00000266269:D573N;ENSP00000337520:D527N	ENSP00000266269:D573N	D	-	1	0	PATZ1	30053224	1.000000	0.71417	0.991000	0.47740	0.979000	0.70002	7.206000	0.77891	2.733000	0.93635	0.650000	0.86243	GAC		0.498	PATZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321932.1	NM_032052		12	51	0	0	0	1	0	12	51					T	31723224	C	T	31723224	3	4	286	1	0	0	0	0	1	0	0	0	11476	884	31	2	350	2	PATZ1	22	31723224	Missense_Mutation	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	1598040	31723224	19581342	672	13802											
EIF3D	8664	broad.mit.edu	37	chr22	36907719	36907719	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	atgacgcagcgtaaaatgccCcaggcattctccacgctcag	11	7	9	14	3	2	1	1	1	1	0	3	1	2	1	3	1	2	4	3	1	2	2			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr22:36907719C>A	ENST00000216190.8	-	14	1834	c.1464G>T	c.(1462-1464)tgG>tgT	p.W488C	EIF3D_ENST00000541106.1_Missense_Mutation_p.W439C|EIF3D_ENST00000405442.1_Missense_Mutation_p.W488C|EIF3D_ENST00000478547.1_5'Flank	NM_003753.3	NP_003744.1			eukaryotic translation initiation factor 3, subunit D											cervix(1)|endometrium(2)|large_intestine(6)|lung(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	15						GTAAAATGCCCCAGGCATTCT	0.542											OREG0026522	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000216190.8																			0				cervix(1)|endometrium(2)|large_intestine(6)|lung(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	15						c.(1462-1464)tgG>tgT		eukaryotic translation initiation factor 3, subunit D							147	113	124					22																	36907719		2203	4300	6503	SO:0001583	missense	8664					cytosol|eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity	g.chr22:36907719C>A	U54558	CCDS13930.1	22q13.1	2007-07-27	2007-07-27	2007-07-27	ENSG00000100353	ENSG00000100353			3278	protein-coding gene	gene with protein product		603915	"eukaryotic translation initiation factor 3, subunit 7 zeta, 66/67kDa"	EIF3S7		9341143	Standard	NM_003753		Approved	eIF3-p66, eIF3-zeta, eIF3d	uc003apr.3	O15371	OTTHUMG00000150599	ENST00000216190.8:c.1464G>T	22.37:g.36907719C>A	ENSP00000216190:p.Trp488Cys		OREG0026522	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	866	EIF3D_ENST00000462641.1_5'UTR|EIF3D_ENST00000405442.1_Missense_Mutation_p.W488C|EIF3D_ENST00000541106.1_Missense_Mutation_p.W439C	p.W488C	NM_003753.3	NP_003744.1	O15371	EIF3D_HUMAN			14	1834	-			488						Missense_Mutation	SNP	ENST00000216190.8	37	c.1464G>T	CCDS13930.1	.	.	.	.	.	.	.	.	.	.	C	24.8	4.572279	0.86542	.	.	ENSG00000100353	ENST00000216190;ENST00000397177;ENST00000541106;ENST00000405442;ENST00000426531	.	.	.	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	D	0.87038	0.6078	M	0.92738	3.34	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.89199	0.3556	9	0.87932	D	0	-23.9161	20.1141	0.97919	0.0:1.0:0.0:0.0	.	439;488	B4DVY1;O15371	.;EIF3D_HUMAN	C	488;473;439;488;141	.	ENSP00000216190:W488C	W	-	3	0	EIF3D	35237665	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	7.032000	0.76498	2.757000	0.94681	0.591000	0.81541	TGG		0.542	EIF3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319026.1			6	38	1	0	2.0095e-06	1	2.04037e-06	6	38					A	36907719	C	A	36907719	3	1	286	1	0	0	0	0	1	0	0	0	5014	624	22	5	190	5	EIF3D	22	36907719	Missense_Mutation	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	5184495	36907719	14396847	673	13803											
C22orf33	339669	broad.mit.edu	37	chr22	37387299	37387299	+	Frame_Shift_Del	DEL	T	T	-																															gcaagttcaggttcatagcaTttttctggtgccaccgccct																										TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr22:37387299delT	ENST00000405091.2	-	7	1015	c.764delA	c.(763-765)aatfs	p.N255fs	TEX33_ENST00000402860.3_Frame_Shift_Del_p.N170fs|TEX33_ENST00000381821.1_Frame_Shift_Del_p.N255fs			O43247	TEX33_HUMAN	testis expressed 33	255																	GTTCATAGCATTTTTCTGGTG	0.493																																						ENST00000405091.2																			0											c.(763-765)atfs		testis expressed 33							141	135	137					22																	37387299		2203	4300	6503	SO:0001589	frameshift_variant	339669							g.chr22:37387299delT	BC042635	CCDS13937.1, CCDS54524.1	22q12.3	2013-10-11	2012-02-16	2012-02-16	ENSG00000185264	ENSG00000185264			28568	protein-coding gene	gene with protein product			"chromosome 22 open reading frame 33"	C22orf33		22332119	Standard	NM_178552		Approved	MGC35206, EAN57	uc003aqf.3	O43247	OTTHUMG00000150531	ENST00000405091.2:c.764delA	22.37:g.37387299delT	ENSP00000386118:p.Asn255fs					TEX33_ENST00000381821.1_Frame_Shift_Del_p.N255fs|TEX33_ENST00000402860.3_Frame_Shift_Del_p.N170fs	p.N255fs			O43247	EAN57_HUMAN			7	1015	-			255					B1AH46|Q6ICF2|Q8IVQ2|Q9Y4V8	Frame_Shift_Del	DEL	ENST00000405091.2	37	c.764delA	CCDS54524.1																																																																																				0.493	TEX33-003	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318778.2	NM_178552		7	53						7	53	---	---	---	---	-	37387299	T	-	37387299	7	5	286	1	0	1	0	1	0	0	0	0	2145	1493	52	0	82	0	C22orf33	22	37387299	Frame_Shift_Del	DEL	T	TCGA-J9-A52C-01A-11D-A26M-08	479580	37387299	13917267	674	13804											
KCTD17	79734	broad.mit.edu	37	chr22	37455445	37455445	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gagctccacagcaccccaaaCgggctgagctcagagtccag	11	4	11	15	1	1	2	1	1	0	1	3	3	3	2	4	1	4	4	4	1	1	0			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr22:37455445C>T	ENST00000403888.3	+	5	601	c.600C>T	c.(598-600)aaC>aaT	p.N200N	KCTD17_ENST00000402077.3_Silent_p.N200N	NM_001282684.1	NP_001269613.1	Q8N5Z5	KCD17_HUMAN	potassium channel tetramerization domain containing 17	200					protein homooligomerization (GO:0051260)		identical protein binding (GO:0042802)			NS(1)|breast(1)|endometrium(1)|lung(1)|prostate(1)	5						GCACCCCAAACGGGCTGAGCT	0.627																																						ENST00000403888.3																			0				NS(1)|breast(1)|endometrium(1)|lung(1)|prostate(1)	5						c.(598-600)aaC>aaT		potassium channel tetramerization domain containing 17							82	80	81					22																	37455445		2203	4300	6503	SO:0001819	synonymous_variant	79734					voltage-gated potassium channel complex	identical protein binding|voltage-gated potassium channel activity	g.chr22:37455445C>T	BC025403	CCDS13940.2, CCDS74854.1, CCDS74855.1	22q12.3	2013-06-20	2013-06-20		ENSG00000100379	ENSG00000100379			25705	protein-coding gene	gene with protein product			"potassium channel tetramerisation domain containing 17"			12477932	Standard	XM_005261741		Approved	FLJ12242	uc011amv.2	Q8N5Z5	OTTHUMG00000150532	ENST00000403888.3:c.600C>T	22.37:g.37455445C>T						KCTD17_ENST00000402077.3_Silent_p.N200N	p.N200N			Q8N5Z5	KCD17_HUMAN			5	601	+			200					B0QYA9|B0QYB0|O95517	Silent	SNP	ENST00000403888.3	37	c.600C>T		.	.	.	.	.	.	.	.	.	.	C	0.298	-0.975988	0.02215	.	.	ENSG00000100379	ENST00000456470	.	.	.	4.18	-8.36	0.00980	.	.	.	.	.	T	0.42787	0.1218	.	.	.	0.33457	D	0.584459	.	.	.	.	.	.	T	0.51965	-0.8638	4	.	.	.	-2.408	10.9113	0.47110	0.1119:0.5936:0.0:0.2945	.	.	.	.	M	155	.	.	T	+	2	0	KCTD17	35785391	0.000000	0.05858	0.001000	0.08648	0.134000	0.20937	-1.594000	0.02094	-2.195000	0.00752	-1.327000	0.01280	ACG		0.627	KCTD17-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000318781.1	NM_024681		17	90	0	0	0	1	0	17	90					T	37455445	C	T	37455445	2	4	286	1	0	0	0	0	0	0	0	1	8104	535	19	1		1	KCTD17	22	37455445	Silent	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	68146	37455445	13849121	675	13805											
TMPRSS6	164656	broad.mit.edu	37	chr22	37480819	37480819	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agtagtagctggggaagtacGgggtgctgaggacgccctgg	8	7	19	7	2	0	1	0	1	0	0	0	3	0	3	1	6	3	5	1	6	4	3			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr22:37480819G>A	ENST00000346753.3	-	9	1177	c.1061C>T	c.(1060-1062)cCg>cTg	p.P354L	TMPRSS6_ENST00000381792.2_Missense_Mutation_p.P345L|RP5-1170K4.7_ENST00000414203.2_RNA|TMPRSS6_ENST00000442782.2_Missense_Mutation_p.P354L|TMPRSS6_ENST00000406856.1_Missense_Mutation_p.P345L|TMPRSS6_ENST00000406725.1_Missense_Mutation_p.P345L	NM_153609.2	NP_705837.1	Q8IU80	TMPS6_HUMAN	transmembrane protease, serine 6	354	CUB 2. {ECO:0000255|PROSITE- ProRule:PRU00059}.				angiogenesis (GO:0001525)|extracellular matrix organization (GO:0030198)|fibrinolysis (GO:0042730)|intracellular signal transduction (GO:0035556)|iron ion homeostasis (GO:0055072)|proteolysis (GO:0006508)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)			breast(5)|central_nervous_system(4)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)	40						GGGGAAGTACGGGGTGCTGAG	0.647																																						ENST00000381792.2																			0				breast(5)|central_nervous_system(4)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)	40						c.(1033-1035)cCg>cTg		transmembrane protease, serine 6																																				SO:0001583	missense	164656				angiogenesis|extracellular matrix organization|fibrinolysis|intracellular signal transduction|proteolysis	integral to membrane|intracellular|plasma membrane	serine-type endopeptidase activity	g.chr22:37480819G>A	AY055383	CCDS13941.1, CCDS74856.1, CCDS74857.1	22q13.1	2010-04-13			ENSG00000187045	ENSG00000187045		"Serine peptidases / Transmembrane"	16517	protein-coding gene	gene with protein product		609862					Standard	NM_001289000		Approved	FLJ30744	uc003aqs.1	Q8IU80	OTTHUMG00000150541	ENST00000346753.3:c.1061C>T	22.37:g.37480819G>A	ENSP00000334962:p.Pro354Leu					TMPRSS6_ENST00000442782.2_Missense_Mutation_p.P354L|TMPRSS6_ENST00000406725.1_Missense_Mutation_p.P345L|TMPRSS6_ENST00000406856.1_Missense_Mutation_p.P345L|TMPRSS6_ENST00000346753.3_Missense_Mutation_p.P354L	p.P345L			Q8IU80	TMPS6_HUMAN			9	1174	-			354			CUB 2.		B0QYB4|B0QYB7|B0QYB8|Q5TI06|Q6ICC2|Q6UXD8|Q8IUE2|Q8IXV8	Missense_Mutation	SNP	ENST00000346753.3	37	c.1034C>T	CCDS13941.1	.	.	.	.	.	.	.	.	.	.	g	20.3	3.973922	0.74246	.	.	ENSG00000187045	ENST00000381792;ENST00000346753;ENST00000406725;ENST00000406856;ENST00000429068;ENST00000442782	T;T;T;T;T;T	0.32515	1.45;1.45;1.45;1.45;1.45;1.45	4.52	4.52	0.55395	CUB (4);	0.000000	0.64402	D	0.000001	T	0.57095	0.2030	M	0.79475	2.455	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.79108	0.992;0.983;0.963	T	0.63839	-0.6546	10	0.66056	D	0.02	.	16.2328	0.82357	0.0:0.0:1.0:0.0	.	354;345;354	Q8IU80-2;Q8IU80-5;Q8IU80	.;.;TMPS6_HUMAN	L	345;354;345;345;16;354	ENSP00000371211:P345L;ENSP00000334962:P354L;ENSP00000385453:P345L;ENSP00000384964:P345L;ENSP00000392433:P16L;ENSP00000397691:P354L	ENSP00000334962:P354L	P	-	2	0	TMPRSS6	35810765	1.000000	0.71417	0.518000	0.27811	0.623000	0.37688	8.359000	0.90093	2.056000	0.61249	0.558000	0.71614	CCG		0.647	TMPRSS6-003	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000318822.1	NM_153609		3	4	0	0	0	1	0	3	4					A	37480819	G	A	37480819	3	1	286	1	0	0	0	0	1	0	0	0	16248	1116	39	2	1414	2	TMPRSS6	22	37480819	Missense_Mutation	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	25374	37480819	13823747	676	13806											
CDC42EP1	11135	broad.mit.edu	37	chr22	37962558	37962558	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgtccttcctcagcaaccacGgtggcagctccgggagcacc	7	6	11	17	3	1	0	1	0	0	0	4	1	4	1	5	3	4	4	5	3	1	1			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr22:37962558G>A	ENST00000249014.4	+	2	622	c.202G>A	c.(202-204)Ggt>Agt	p.G68S		NM_152243.2	NP_689449.1	Q00587	BORG5_HUMAN	CDC42 effector protein (Rho GTPase binding) 1	68					positive regulation of pseudopodium assembly (GO:0031274)|regulation of cell shape (GO:0008360)|Rho protein signal transduction (GO:0007266)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)				endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(4)|prostate(5)	15	Melanoma(58;0.0574)					CAGCAACCACGGTGGCAGCTC	0.677																																						ENST00000249014.4																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(4)|prostate(5)	15						c.(202-204)Ggt>Agt		CDC42 effector protein (Rho GTPase binding) 1							41	40	40					22																	37962558		2203	4300	6503	SO:0001583	missense	11135				positive regulation of pseudopodium assembly|regulation of cell shape	actin cytoskeleton|endomembrane system|Golgi apparatus|plasma membrane	protein binding	g.chr22:37962558G>A	M88338	CCDS13949.1	22q13.1	2008-06-11			ENSG00000128283	ENSG00000128283			17014	protein-coding gene	gene with protein product	"55 kDa bone marrow stromal/endothelial cell protein", "serum constituent protein"	606084				1629197, 10430899	Standard	NM_152243		Approved	MSE55, CEP1, Borg5	uc003asz.4	Q00587	OTTHUMG00000150591	ENST00000249014.4:c.202G>A	22.37:g.37962558G>A	ENSP00000249014:p.Gly68Ser						p.G68S	NM_152243.2	NP_689449.1	Q00587	BORG5_HUMAN			2	622	+	Melanoma(58;0.0574)		68					A8K825|Q96GN1	Missense_Mutation	SNP	ENST00000249014.4	37	c.202G>A	CCDS13949.1	.	.	.	.	.	.	.	.	.	.	G	17.41	3.383004	0.61845	.	.	ENSG00000128283	ENST00000249014;ENST00000430687	D	0.85339	-1.97	5.22	5.22	0.72569	PAK-box/P21-Rho-binding (2);	0.200767	0.41712	D	0.000821	D	0.87237	0.6127	L	0.34521	1.04	0.47547	D	0.999459	D	0.89917	1.0	D	0.80764	0.994	D	0.84706	0.0731	10	0.25106	T	0.35	-13.8353	14.4111	0.67115	0.0:0.1475:0.8525:0.0	.	68	Q00587	BORG5_HUMAN	S	68	ENSP00000249014:G68S	ENSP00000249014:G68S	G	+	1	0	CDC42EP1	36292504	1.000000	0.71417	0.821000	0.32701	0.718000	0.41266	6.118000	0.71583	2.429000	0.82318	0.563000	0.77884	GGT		0.677	CDC42EP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318993.1	NM_152243		7	27	0	0	0	1	0	7	27					A	37962558	G	A	37962558	3	1	286	1	0	0	0	0	1	0	0	0	3075	1116	39	2	204	2	CDC42EP1	22	37962558	Missense_Mutation	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	481739	37962558	13342008	677	13807											
GGA1	26088	broad.mit.edu	37	chr22	38028044	38028044	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtatgaccagcacggcttcCgcatcctcttccattttgcc	6	13	7	15	2	1	1	0	1	1	0	4	1	4	1	5	1	2	4	5	1	1	5			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr22:38028044C>T	ENST00000343632.4	+	15	1956	c.1570C>T	c.(1570-1572)Cgc>Tgc	p.R524C	GGA1_ENST00000381756.5_Missense_Mutation_p.R541C|GGA1_ENST00000337437.4_Missense_Mutation_p.R491C|GGA1_ENST00000406772.1_Missense_Mutation_p.R451C|GGA1_ENST00000325180.8_Missense_Mutation_p.R437C	NM_001172687.1|NM_013365.4	NP_001166158.1|NP_037497.1	Q9UJY5	GGA1_HUMAN	golgi-associated, gamma adaptin ear containing, ARF binding protein 1	524	GAE. {ECO:0000255|PROSITE- ProRule:PRU00093}.				intracellular protein transport (GO:0006886)|positive regulation of protein catabolic process (GO:0045732)|vesicle-mediated transport (GO:0016192)	clathrin adaptor complex (GO:0030131)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|urinary_tract(1)	10	Melanoma(58;0.0574)					GCACGGCTTCCGCATCCTCTT	0.647																																						ENST00000406772.1																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|urinary_tract(1)	10						c.(1351-1353)Cgc>Tgc		golgi-associated, gamma adaptin ear containing, ARF binding protein 1							103	75	85					22																	38028044		2203	4300	6503	SO:0001583	missense	26088				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|endosome membrane|Golgi apparatus part	protein binding	g.chr22:38028044C>T	AF190862	CCDS13951.1, CCDS33643.1, CCDS54526.1	22q13.31	2010-02-12	2010-02-12		ENSG00000100083	ENSG00000100083			17842	protein-coding gene	gene with protein product		606004				10747088, 10747089, 16407204	Standard	NM_013365		Approved		uc003atc.3	Q9UJY5	OTTHUMG00000030985	ENST00000343632.4:c.1570C>T	22.37:g.38028044C>T	ENSP00000341344:p.Arg524Cys					GGA1_ENST00000343632.4_Missense_Mutation_p.R524C|GGA1_ENST00000337437.4_Missense_Mutation_p.R491C|GGA1_ENST00000325180.8_Missense_Mutation_p.R437C|GGA1_ENST00000381756.5_Missense_Mutation_p.R541C	p.R451C	NM_001172688.1	NP_001166159.1	Q9UJY5	GGA1_HUMAN			16	2003	+	Melanoma(58;0.0574)		524			Unstructured hinge.		A8K3D3|B0QYR7|Q5TG07|Q86YA9|Q8NCS6|Q9BW94|Q9UG00|Q9UGW0|Q9UGW1	Missense_Mutation	SNP	ENST00000343632.4	37	c.1351C>T	CCDS13951.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.383887	0.82792	.	.	ENSG00000100083	ENST00000343632;ENST00000381756;ENST00000325180;ENST00000337437;ENST00000406772	T;T;T;T;T	0.47177	0.85;0.85;0.85;0.85;0.85	4.78	3.75	0.43078	Coatomer/clathrin adaptor appendage, Ig-like subdomain (1);Clathrin adaptor, gamma-adaptin, appendage (2);Clathrin adaptor, alpha/beta/gamma-adaptin, appendage, Ig-like subdomain (2);	0.000000	0.85682	D	0.000000	T	0.70107	0.3186	M	0.83012	2.62	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;1.0	T	0.75722	-0.3218	10	0.87932	D	0	-18.2191	14.2719	0.66157	0.1501:0.8498:0.0:0.0	.	541;437;524	Q6IC75;Q86YA9;Q9UJY5	.;.;GGA1_HUMAN	C	524;541;437;491;451	ENSP00000341344:R524C;ENSP00000371175:R541C;ENSP00000321288:R437C;ENSP00000338647:R491C;ENSP00000385287:R451C	ENSP00000321288:R437C	R	+	1	0	GGA1	36357990	1.000000	0.71417	1.000000	0.80357	0.757000	0.42996	3.139000	0.50577	0.996000	0.38943	-0.314000	0.08810	CGC		0.647	GGA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075873.3	NM_013365		10	54	0	0	0	1	0	10	54					T	38028044	C	T	38028044	3	4	286	1	0	0	0	0	1	0	0	0	6352	652	23	2	1694	2	GGA1	22	38028044	Missense_Mutation	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	65486	38028044	13276522	678	13808											
APOBEC3B	9582	broad.mit.edu	37	chr22	39382073	39382073	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgagtcaggcaggagcccGcgtgacgatcatggactatg	9	7	15	10	3	2	2	2	2	0	0	2	5	2	4	1	3	1	2	1	3	1	1	rs200407707		TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr22:39382073G>A	ENST00000333467.3	+	3	476	c.431G>A	c.(430-432)cGc>cAc	p.R144H	APOBEC3B_ENST00000402182.3_Missense_Mutation_p.R144H|APOBEC3B_ENST00000407298.3_Missense_Mutation_p.R144H	NM_001270411.1|NM_004900.4	NP_001257340.1|NP_004891	Q9UH17	ABC3B_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3B	144					defense response to virus (GO:0051607)|innate immune response (GO:0045087)|metabolic process (GO:0008152)|negative regulation of transposition (GO:0010529)	nucleus (GO:0005634)	deoxycytidine deaminase activity (GO:0047844)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			cervix(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	13	Melanoma(58;0.04)					GCAGGAGCCCGCGTGACGATC	0.587													G|||	1	0.000199681	0	0	5008	,	,		14866	0		0.001	False		,,,				2504	0					ENST00000402182.3																			0				cervix(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	13						c.(430-432)cGc>cAc		apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3B		G	HIS/ARG	0,4394		0,0,2197	51	56	54		431	-4.1	0	22		54	1,8557		0,1,4278	no	missense	APOBEC3B	NM_004900.3	29	0,1,6475	AA,AG,GG		0.0117,0.0,0.0077	probably-damaging	144/383	39382073	1,12951	2197	4279	6476	SO:0001583	missense	9582				negative regulation of transposition		hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines|RNA binding|zinc ion binding	g.chr22:39382073G>A	AK024854	CCDS13982.1, CCDS58807.1	22q13.1-q13.2	2008-05-15			ENSG00000179750	ENSG00000179750		"Apolipoprotein B mRNA editing enzymes"	17352	protein-coding gene	gene with protein product	"phorbolin 3"	607110				11863358, 10469298	Standard	NM_004900		Approved	PHRBNL, FLJ21201	uc003awo.2	Q9UH17	OTTHUMG00000151085	ENST00000333467.3:c.431G>A	22.37:g.39382073G>A	ENSP00000327459:p.Arg144His					APOBEC3B_ENST00000407298.3_Missense_Mutation_p.R144H|APOBEC3B_ENST00000333467.3_Missense_Mutation_p.R144H	p.R144H			Q9UH17	ABC3B_HUMAN			3	486	+	Melanoma(58;0.04)		144					B0QYD2|O95618|Q20WL1|Q5IFJ4|Q7Z2N3|Q7Z6D6|Q9UE74	Missense_Mutation	SNP	ENST00000333467.3	37	c.431G>A	CCDS13982.1	.	.	.	.	.	.	.	.	.	.	.	12.32	1.901239	0.33535	0.0	1.17E-4	ENSG00000179750	ENST00000407298;ENST00000402182;ENST00000333467	T;T;T	0.64991	-0.13;-0.13;-0.13	2.12	-4.07	0.03975	APOBEC-like, C-terminal (1);Cytidine deaminase-like (1);	.	.	.	.	T	0.56992	0.2023	L	0.31664	0.95	0.09310	N	1	B;D	0.69078	0.0;0.997	B;D	0.64144	0.001;0.922	T	0.49960	-0.8883	9	0.30854	T	0.27	.	4.2649	0.10759	0.4142:0.3334:0.2524:0.0	.	144;144	B0QYD2;Q9UH17	.;ABC3B_HUMAN	H	144	ENSP00000385068:R144H;ENSP00000385060:R144H;ENSP00000327459:R144H	ENSP00000327459:R144H	R	+	2	0	APOBEC3B	37712019	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-1.070000	0.03440	-1.115000	0.02973	-1.111000	0.02071	CGC		0.587	APOBEC3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321233.1	NM_004900		17	72	0	0	0	1	0	17	72					A	39382073	G	A	39382073	3	1	286	1	0	0	0	0	1	0	0	0	790	1087	38	1	441	1	APOBEC3B	22	39382073	Missense_Mutation	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	1354029	39382073	11922493	679	13809											
RPL3	6122	broad.mit.edu	37	chr22	39712828	39712830	+	In_Frame_Del	DEL	CTT	CTT	-																															ttgcagtacttggtaaaggcCttcttcttagatttatgcct																										TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr22:39712828_39712830delCTT	ENST00000216146.4	-	4	555_557	c.382_384delAAG	c.(382-384)aagdel	p.K128del	SNORD83A_ENST00000386747.1_RNA|RPL3_ENST00000465618.1_5'UTR|SNORD43_ENST00000583861.1_RNA|RPL3_ENST00000401609.1_In_Frame_Del_p.K76del|SNORD83B_ENST00000386745.1_RNA	NM_000967.3|NM_001033853.1	NP_000958.1|NP_001029025.1	P39023	RL3_HUMAN	ribosomal protein L3	128					cellular protein metabolic process (GO:0044267)|cellular response to interleukin-4 (GO:0071353)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			breast(1)|kidney(4)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	12	Melanoma(58;0.04)				Homoharringtonine(DB04865)	TGGTAAAGGCCTTCTTCTTAGAT	0.547											OREG0026575	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000216146.4																			0				breast(1)|kidney(4)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						c.(382-384)del		ribosomal protein L3																																				SO:0001651	inframe_deletion	6122				endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|nucleolus	protein binding|RNA binding|structural constituent of ribosome	g.chr22:39712828_39712830delCTT	AB007166	CCDS13988.1	22q13	2011-04-06			ENSG00000100316	ENSG00000100316		"L ribosomal proteins"	10332	protein-coding gene	gene with protein product		604163				2891103, 9582194	Standard	NM_000967		Approved	L3	uc003axi.3	P39023	OTTHUMG00000151079	ENST00000216146.4:c.382_384delAAG	22.37:g.39712834_39712836delCTT	ENSP00000346001:p.Lys128del		OREG0026575	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	887	RPL3_ENST00000401609.1_In_Frame_Del_p.K76del|RPL3_ENST00000465618.1_5'UTR	p.K128del	NM_000967.3|NM_001033853.1	NP_000958.1|NP_001029025.1	P39023	RL3_HUMAN			4	555_557	-	Melanoma(58;0.04)		128					B2RDV9|Q15548|Q5I0G0	In_Frame_Del	DEL	ENST00000216146.4	37	c.382_384delAAG	CCDS13988.1																																																																																				0.547	RPL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321196.1	NM_000967		10	80						10	80	---	---	---	---	-	39712830	CTT	-	39712828	7	5	286	1	0	1	0	1	0	0	0	0	13579	695	24	0	855	0	RPL3	22	39712828	In_Frame_Del	DEL	CTT	TCGA-J9-A52C-01A-11D-A26M-08	330755	39712828	11591738	680	13810											
MKL1	57591	broad.mit.edu	37	chr22	40815315	40815315	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtcttgataggctcgaaggCgctcaatcagctcagttttg	8	12	12	9	2	4	1	3	1	1	0	5	2	4	1	0	3	1	4	0	3	3	4			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr22:40815315C>T	ENST00000355630.3	-	12	1717	c.1127G>A	c.(1126-1128)cGc>cAc	p.R376H	MKL1_ENST00000402042.1_Missense_Mutation_p.R326H|MKL1_ENST00000407029.1_Missense_Mutation_p.R376H|MKL1_ENST00000396617.3_Missense_Mutation_p.R376H	NM_020831.3	NP_065882.1	Q969V6	MKL1_HUMAN	megakaryoblastic leukemia (translocation) 1	376	SAP. {ECO:0000255|PROSITE- ProRule:PRU00186}.				negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription via serum response element binding (GO:0010735)|smooth muscle cell differentiation (GO:0051145)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	actin binding (GO:0003779)|actin monomer binding (GO:0003785)|leucine zipper domain binding (GO:0043522)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	30						GGCTCGAAGGCGCTCAATCAG	0.607			T	RBM15	acute megakaryocytic leukemia																																	ENST00000396617.3				Dom	yes		22	22q13	57591	T	megakaryoblastic leukemia (translocation) 1			L	RBM15		acute megakaryocytic leukemia		0				breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	30						c.(1126-1128)cGc>cAc		megakaryoblastic leukemia (translocation) 1							44	46	45					22																	40815315		2202	4300	6502	SO:0001583	missense	57591				positive regulation of transcription from RNA polymerase II promoter|smooth muscle cell differentiation|transcription, DNA-dependent	cytoplasm|nucleus	actin monomer binding|leucine zipper domain binding|nucleic acid binding|transcription coactivator activity	g.chr22:40815315C>T	AB037859	CCDS14003.1, CCDS74865.1, CCDS74866.1	22q13	2008-06-12			ENSG00000196588	ENSG00000196588			14334	protein-coding gene	gene with protein product	"megakaryocytic acute leukemia", "myocardin-related transcription factor A", "basic, SAP and coiled-coil domain"	606078				11431691, 12019265, 14970199	Standard	XM_005261692		Approved	KIAA1438, MAL, MRTF-A, BSAC	uc003ayw.1	Q969V6	OTTHUMG00000151146	ENST00000355630.3:c.1127G>A	22.37:g.40815315C>T	ENSP00000347847:p.Arg376His					MKL1_ENST00000355630.3_Missense_Mutation_p.R376H|MKL1_ENST00000402042.1_Missense_Mutation_p.R326H|MKL1_ENST00000407029.1_Missense_Mutation_p.R376H	p.R376H			Q969V6	MKL1_HUMAN			12	1717	-			376			SAP.		Q8TCL1|Q96SC5|Q96SC6|Q9P2B0	Missense_Mutation	SNP	ENST00000355630.3	37	c.1127G>A	CCDS14003.1	.	.	.	.	.	.	.	.	.	.	C	32	5.191724	0.94923	.	.	ENSG00000196588	ENST00000355630;ENST00000396617;ENST00000402042;ENST00000407029	D;D;D;D	0.88896	-2.29;-2.44;-2.28;-2.29	5.03	5.03	0.67393	DNA-binding SAP (4);	0.000000	0.85682	D	0.000000	D	0.96753	0.8940	H	0.97564	4.03	0.80722	D	1	D;D;D	0.89917	1.0;0.99;0.99	D;P;P	0.91635	0.999;0.836;0.756	D	0.98100	1.0414	10	0.87932	D	0	-26.8399	18.5611	0.91100	0.0:1.0:0.0:0.0	.	326;376;376	B0QY83;E7ER32;Q969V6	.;.;MKL1_HUMAN	H	376;376;326;376	ENSP00000347847:R376H;ENSP00000379861:R376H;ENSP00000385584:R326H;ENSP00000385835:R376H	ENSP00000347847:R376H	R	-	2	0	MKL1	39145261	1.000000	0.71417	1.000000	0.80357	0.902000	0.53008	7.651000	0.83577	2.613000	0.88420	0.655000	0.94253	CGC		0.607	MKL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321522.1	NM_020831		4	32	0	0	0	1	0	4	32					T	40815315	C	T	40815315	3	4	286	1	0	0	0	0	1	0	0	0	9601	768	27	1	1684	1	MKL1	22	40815315	Missense_Mutation	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	1102487	40815315	10489251	681	13811											
SAMM50	25813	broad.mit.edu	37	chr22	44371976	44371976	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacactgtcaagtgggaaggCgtatggcgagaactgggctg	10	7	16	8	2	1	1	1	0	0	1	1	3	1	2	0	4	1	2	0	4	4	1	rs34262262		TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr22:44371976C>T	ENST00000350028.4	+	8	847	c.690C>T	c.(688-690)ggC>ggT	p.G230G	SAMM50_ENST00000396202.3_Silent_p.G20G	NM_015380.4	NP_056195.3	Q9Y512	SAM50_HUMAN	SAMM50 sorting and assembly machinery component	230					cellular protein metabolic process (GO:0044267)|protein import into mitochondrial outer membrane (GO:0045040)|protein targeting to mitochondrion (GO:0006626)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial outer membrane (GO:0005741)|mitochondrial sorting and assembly machinery complex (GO:0001401)|mitochondrion (GO:0005739)				endometrium(3)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_neural(38;0.0966)|Ovarian(80;0.105)|Glioma(61;0.222)				AGTGGGAAGGCGTATGGCGAG	0.483																																						ENST00000350028.4																			0				endometrium(3)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						c.(688-690)ggC>ggT		SAMM50 sorting and assembly machinery component							90	78	82					22																	44371976		2203	4300	6503	SO:0001819	synonymous_variant	25813				protein import into mitochondrial outer membrane	integral to membrane|integral to membrane of membrane fraction|mitochondrial sorting and assembly machinery complex	protein binding	g.chr22:44371976C>T	AK001087	CCDS14055.1	22q13.31	2013-08-21	2013-08-21	2005-11-20	ENSG00000100347	ENSG00000100347			24276	protein-coding gene	gene with protein product		612058	"sorting and assembly machinery component 50 homolog (S. cerevisiae)"			15644312	Standard	NM_015380		Approved	CGI-51, TRG-3, YNL026W, OMP85, TOB55	uc003bej.3	Q9Y512	OTTHUMG00000150557	ENST00000350028.4:c.690C>T	22.37:g.44371976C>T						SAMM50_ENST00000396202.3_Silent_p.G20G	p.G230G	NM_015380.4	NP_056195.3	Q9Y512	SAM50_HUMAN			8	847	+		all_neural(38;0.0966)|Ovarian(80;0.105)|Glioma(61;0.222)	230					Q53HC4|Q56VW7|Q969Y9|Q96I46|Q9NW85|Q9UQM9	Silent	SNP	ENST00000350028.4	37	c.690C>T	CCDS14055.1																																																																																				0.483	SAMM50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318898.2	NM_015380		5	31	0	0	0	1	0	5	31					T	44371976	C	T	44371976	2	4	286	1	0	0	0	0	0	0	0	1	13829	755	27	1		1	SAMM50	22	44371976	Silent	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	3556661	44371976	6932590	682	13812											
SBF1	6305	broad.mit.edu	37	chr22	50892978	50892978	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tggcgtcaggctgggcccgcGggcagctgtcgtaacagggc	5	6	18	12	4	1	0	1	0	0	0	2	0	1	0	1	5	2	4	1	5	1	1	rs376409019		TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr22:50892978G>A	ENST00000390679.3	-	35	5112	c.4928C>T	c.(4927-4929)cCg>cTg	p.P1643L	SBF1_ENST00000476293.1_5'Flank|SBF1_ENST00000348911.6_Missense_Mutation_p.P1644L|SBF1_ENST00000380817.3_Missense_Mutation_p.P1669L			O95248	MTMR5_HUMAN	SET binding factor 1	1643					cell death (GO:0008219)|positive regulation of Rab GTPase activity (GO:0032851)|protein dephosphorylation (GO:0006470)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	protein tyrosine/serine/threonine phosphatase activity (GO:0008138)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(8)|large_intestine(3)|lung(18)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	43		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)		CTGGGCCCGCGGGCAGCTGTC	0.701																																						ENST00000380817.2																			0				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(8)|large_intestine(3)|lung(18)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	43						c.(5005-5007)cCg>cTg		SET binding factor 1		G	LEU/PRO	0,4080		0,0,2040	29	36	34		5006	3.5	0.7	22		34	1,8307		0,1,4153	no	missense	SBF1	NM_002972.2	98	0,1,6193	AA,AG,GG		0.012,0.0,0.0081	benign	1669/1894	50892978	1,12387	2040	4154	6194	SO:0001583	missense	6305				protein dephosphorylation	integral to membrane|nucleus	protein tyrosine/serine/threonine phosphatase activity	g.chr22:50892978G>A	U93181	CCDS14091.1, CCDS14091.2	22q13.33	2013-01-10			ENSG00000100241	ENSG00000100241		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins", "DENN/MADD domain containing", "Pleckstrin homology (PH) domain containing"	10542	protein-coding gene	gene with protein product	"myotubularin related 5", "DENN/MADD domain containing 7A"	603560				9537414, 9736772	Standard	NM_002972		Approved	MTMR5, DENND7A	uc003blh.3	O95248	OTTHUMG00000150204	ENST00000390679.3:c.4928C>T	22.37:g.50892978G>A	ENSP00000375097:p.Pro1643Leu					SBF1_ENST00000390679.3_Missense_Mutation_p.P1643L|SBF1_ENST00000348911.6_Missense_Mutation_p.P1644L	p.P1669L	NM_002972.2	NP_002963.2	O95248	MTMR5_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)	36	5189	-		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)	1643					A6PVG9|O60228|Q5JXD8|Q5PPM2|Q96GR9|Q9UGB8	Missense_Mutation	SNP	ENST00000390679.3	37	c.5006C>T		.	.	.	.	.	.	.	.	.	.	G	11.84	1.758446	0.31137	0.0	1.2E-4	ENSG00000100241	ENST00000380817;ENST00000348911;ENST00000337034;ENST00000390679	D;D;D	0.85861	-2.04;-2.04;-2.04	4.54	3.5	0.40072	.	0.490754	0.19681	N	0.108506	T	0.66036	0.2749	N	0.14661	0.345	0.19300	N	0.999971	B;P;B	0.42039	0.174;0.769;0.078	B;B;B	0.28305	0.043;0.088;0.03	T	0.60835	-0.7184	10	0.35671	T	0.21	.	9.3979	0.38415	0.0897:0.1925:0.7178:0.0	.	1643;1669;190	O95248;O95248-4;A6PVG7	MTMR5_HUMAN;.;.	L	1669;1644;1679;1643	ENSP00000370196:P1669L;ENSP00000252027:P1644L;ENSP00000375097:P1643L	ENSP00000336522:P1679L	P	-	2	0	SBF1	49239844	0.012000	0.17670	0.652000	0.29579	0.864000	0.49448	0.830000	0.27462	2.236000	0.73375	0.462000	0.41574	CCG		0.701	SBF1-201	KNOWN	basic	protein_coding	protein_coding				14	69	0	0	0	1	0	14	69					A	50892978	G	A	50892978	3	1	286	1	0	0	0	0	1	0	0	0	13858	1116	39	2	699	2	SBF1	22	50892978	Missense_Mutation	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	6521002	50892978	411588	683	13813											
ASMTL	8623	broad.mit.edu	37	chrX	1561136	1561136	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ttggcggtctccatggcgtaCccatacggagtagcgaagga	9	8	14	10	4	1	0	0	0	1	0	2	3	1	2	2	5	3	2	2	5	4	4			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chrX:1561136C>T	ENST00000381317.3	-	2	200	c.168G>A	c.(166-168)ggG>ggA	p.G56G	ASMTL_ENST00000416733.2_Missense_Mutation_p.G2D|ASMTL_ENST00000534940.1_5'UTR|ASMTL_ENST00000381333.4_Silent_p.G56G	NM_004192.3	NP_004183.2	O95671	ASML_HUMAN	acetylserotonin O-methyltransferase-like	56	MAF-like.					cytoplasm (GO:0005737)	O-methyltransferase activity (GO:0008171)			NS(1)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(9)|pancreas(1)|soft_tissue(1)	23		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				CCATGGCGTACCCATACGGAG	0.567																																						ENST00000416733.2																			0				NS(1)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(9)|pancreas(1)|soft_tissue(1)	23						c.(4-6)gGt>gAt		acetylserotonin O-methyltransferase-like							123	129	127					X																	1561136		1901	4100	6001	SO:0001819	synonymous_variant	8623				melatonin biosynthetic process	cytoplasm	acetylserotonin O-methyltransferase activity	g.chrX:1561136C>T	Y15521	CCDS43917.1, CCDS55362.1, CCDS55363.1	Xp22.3 and Yp11.3	2008-02-05			ENSG00000169093	ENSG00000169093		"Pseudoautosomal regions / PAR1"	751	protein-coding gene	gene with protein product		300162, 400011				9736779	Standard	NM_004192		Approved		uc004cpx.2	O95671	OTTHUMG00000021057	ENST00000381317.3:c.168G>A	X.37:g.1561136C>T						ASMTL_ENST00000381333.4_Silent_p.G56G|ASMTL_ENST00000534940.1_5'UTR|ASMTL_ENST00000381317.3_Silent_p.G56G	p.G2D			O95671	ASML_HUMAN			2	202	-		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)	0					B4DX75|F5GXH4|J3JS33|Q5JQ53|Q8NBH5|Q96G02|Q9BUL6	Missense_Mutation	SNP	ENST00000381317.3	37	c.5G>A	CCDS43917.1	.	.	.	.	.	.	.	.	.	.	g	5.172	0.217310	0.09810	.	.	ENSG00000169093	ENST00000416733	T	0.02103	4.45	2.24	-4.47	0.03525	.	0.136004	0.46758	U	0.000262	T	0.01592	0.0051	.	.	.	0.09310	N	0.999996	B	0.06786	0.001	B	0.04013	0.001	T	0.43572	-0.9383	9	0.87932	D	0	.	1.8269	0.03122	0.1144:0.2056:0.2251:0.455	.	2	E7ER97	.	D	2	ENSP00000410578:G2D	ENSP00000410578:G2D	G	-	2	0	ASMTL	1521136	0.131000	0.22433	0.000000	0.03702	0.204000	0.24138	-1.040000	0.03546	-3.126000	0.00237	-0.499000	0.04595	GGT		0.567	ASMTL-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055595.1	NM_004192		16	90	0	0	0	1	0	16	90					T	1561136	C	T	1561136	2	4	286	1	0	0	0	0	0	0	0	1	1046	494	18	3		3	ASMTL	23	1561136	Silent	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08		1561136	153709424	684	13814											
ASMT	438	broad.mit.edu	37	chrX	1743283	1743283	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctggggccacctggcagaCgccgtgaggtgggggctgcc	4	6	19	12	2	0	2	0	1	0	1	0	2	0	2	4	6	2	3	4	6	0	0			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chrX:1743283C>T	ENST00000381229.4	+	3	402	c.366C>T	c.(364-366)gaC>gaT	p.D122D	ASMT_ENST00000381241.3_Silent_p.D122D|ASMT_ENST00000381233.3_Silent_p.D122D			P46597	ASMT_HUMAN	acetylserotonin O-methyltransferase	122					cellular nitrogen compound metabolic process (GO:0034641)|indolalkylamine biosynthetic process (GO:0046219)|melatonin biosynthetic process (GO:0030187)|negative regulation of male gonad development (GO:2000019)|small molecule metabolic process (GO:0044281)|translation (GO:0006412)	cytosol (GO:0005829)	acetylserotonin O-methyltransferase activity (GO:0017096)|identical protein binding (GO:0042802)|O-methyltransferase activity (GO:0008171)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|skin(1)	16		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Melatonin(DB01065)	ACCTGGCAGACGCCGTGAGGT	0.672													c|||	2	0.000399361	0.0015	0	5008	,	,		18650	0		0	False		,,,				2504	0					ENST00000381241.3																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|skin(1)	16						c.(364-366)gaC>gaT		acetylserotonin O-methyltransferase			,,	3,4403		0,3,2200	82	75	77		366,366,366	-1.5	0	X	dbSNP_134	77	1,8591		0,1,4295	no	coding-synonymous,coding-synonymous,coding-synonymous	ASMT	NM_001171038.1,NM_001171039.1,NM_004043.2	,,	0,4,6495	TT,TC,CC		0.0116,0.0681,0.0308	,,	122/374,122/299,122/374	1743283	4,12994	2203	4296	6499	SO:0001819	synonymous_variant	438				melatonin biosynthetic process|translation	cytosol	acetylserotonin O-methyltransferase activity|S-methyltransferase activity	g.chrX:1743283C>T	M83779	CCDS14117.1, CCDS55364.1	Xp22.3 and Yp11.3	2008-02-05			ENSG00000196433	ENSG00000196433	2.1.1.4	"Pseudoautosomal regions / PAR1"	750	protein-coding gene	gene with protein product		300015, 402500				8397829, 7989373	Standard	NM_004043		Approved	HIOMT, ASMTY, HIOMTY	uc010ncy.3	P46597	OTTHUMG00000021065	ENST00000381229.4:c.366C>T	X.37:g.1743283C>T						ASMT_ENST00000381233.3_Silent_p.D122D|ASMT_ENST00000381229.4_Silent_p.D122D	p.D122D	NM_001171038.1|NM_004043.2	NP_001164509.1|NP_004034.2	P46597	HIOM_HUMAN			3	565	+		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)	122					B2RC33|Q16598|Q5JQ72|Q5JQ73	Silent	SNP	ENST00000381229.4	37	c.366C>T																																																																																					0.672	ASMT-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000055612.1	NM_004043		10	56	0	0	0	1	0	10	56					T	1743283	C	T	1743283	2	4	286	1	0	0	0	0	0	0	0	1	1045	535	19	1		1	ASMT	23	1743283	Silent	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	182147	1743283	153527277	685	13815											
PRKX	5613	broad.mit.edu	37	chrX	3592735	3592735	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggatgacgtcgggaatgctcAtcaccttgagggcgaagaaa	12	7	14	8	3	2	3	2	2	0	1	3	6	2	5	1	3	1	1	1	3	3	1			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chrX:3592735A>G	ENST00000262848.5	-	2	593	c.239T>C	c.(238-240)aTg>aCg	p.M80T		NM_005044.4	NP_005035.1	P51817	PRKX_HUMAN	protein kinase, X-linked	80	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell-substrate adhesion (GO:0031589)|endothelial cell migration (GO:0043542)|endothelial cell proliferation (GO:0001935)|epithelial tube morphogenesis (GO:0060562)|kidney morphogenesis (GO:0060993)|myeloid cell differentiation (GO:0030099)|peptidyl-serine phosphorylation (GO:0018105)|protein autophosphorylation (GO:0046777)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of epithelial cell differentiation involved in kidney development (GO:2000696)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cAMP-dependent protein kinase activity (GO:0004691)			kidney(1)|large_intestine(2)|lung(6)|pancreas(1)|skin(2)	12		all_lung(23;0.000396)|Lung NSC(23;0.00123)				GGGAATGCTCATCACCTTGAG	0.552																																						ENST00000262848.5																			0				kidney(1)|large_intestine(2)|lung(6)|pancreas(1)|skin(2)	12						c.(238-240)aTg>aCg		protein kinase, X-linked							246	160	189					X																	3592735		2203	4300	6503	SO:0001583	missense	5613						ATP binding|cAMP-dependent protein kinase activity	g.chrX:3592735A>G		CCDS14125.1	Xp22.3	2008-08-01			ENSG00000183943	ENSG00000183943	2.7.11.1		9441	protein-coding gene	gene with protein product		300083				7633447	Standard	NM_005044		Approved	PKX1	uc010nde.3	P51817	OTTHUMG00000021087	ENST00000262848.5:c.239T>C	X.37:g.3592735A>G	ENSP00000262848:p.Met80Thr						p.M80T	NM_005044.4	NP_005035.1	P51817	PRKX_HUMAN			2	593	-		all_lung(23;0.000396)|Lung NSC(23;0.00123)	80			Protein kinase.			Missense_Mutation	SNP	ENST00000262848.5	37	c.239T>C	CCDS14125.1	.	.	.	.	.	.	.	.	.	.	A	13.98	2.399606	0.42512	.	.	ENSG00000183943	ENST00000262848	T	0.08102	3.13	2.62	2.62	0.31277	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	U	0.000000	T	0.17492	0.0420	M	0.63843	1.955	0.80722	D	1	D	0.55800	0.973	P	0.55824	0.785	T	0.00653	-1.1625	10	0.87932	D	0	-39.5816	9.1861	0.37172	1.0:0.0:0.0:0.0	.	80	P51817	PRKX_HUMAN	T	80	ENSP00000262848:M80T	ENSP00000262848:M80T	M	-	2	0	PRKX	3602735	1.000000	0.71417	0.914000	0.36105	0.415000	0.31203	7.446000	0.80609	0.763000	0.33175	0.229000	0.17801	ATG		0.552	PRKX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055659.1	NM_005044		19	38	0	0	0	1	0	19	38					G	3592735	A	G	3592735	3	3	286	1	0	0	0	0	1	0	0	0	12527	217	8	4	865	4	PRKX	23	3592735	Missense_Mutation	SNP	A	TCGA-J9-A52C-01A-11D-A26M-08	1849452	3592735	151677825	686	13816											
NLGN4X	57502	broad.mit.edu	37	chrX	5821330	5821330	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tagaagtaggtgggggagccGtactgcgcgtgcaggtcggc	7	7	19	8	4	0	1	0	0	0	1	1	2	0	2	1	5	4	3	1	5	4	3			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chrX:5821330G>A	ENST00000381095.3	-	5	2016	c.1389C>T	c.(1387-1389)taC>taT	p.Y463Y	NLGN4X_ENST00000275857.6_Silent_p.Y463Y|NLGN4X_ENST00000381092.1_Silent_p.Y463Y|NLGN4X_ENST00000381093.2_Silent_p.Y483Y|NLGN4X_ENST00000538097.1_Silent_p.Y463Y	NM_001282145.1|NM_001282146.1|NM_181332.1	NP_001269074.1|NP_001269075.1|NP_851849.1	Q8N0W4	NLGNX_HUMAN	neuroligin 4, X-linked	463					adult behavior (GO:0030534)|brainstem development (GO:0003360)|cell-cell junction organization (GO:0045216)|cerebellum development (GO:0021549)|learning (GO:0007612)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|neuron cell-cell adhesion (GO:0007158)|neuron differentiation (GO:0030182)|organ growth (GO:0035265)|presynaptic membrane assembly (GO:0097105)|social behavior (GO:0035176)|synapse organization (GO:0050808)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|excitatory synapse (GO:0060076)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|chloride ion binding (GO:0031404)|neurexin family protein binding (GO:0042043)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)			breast(1)|cervix(2)|endometrium(4)|large_intestine(21)|lung(39)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	81						TGGGGGAGCCGTACTGCGCGT	0.612																																						ENST00000381095.3																			0				breast(1)|cervix(2)|endometrium(4)|large_intestine(21)|lung(39)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	81						c.(1387-1389)taC>taT		neuroligin 4, X-linked							38	34	36					X																	5821330		2203	4296	6499	SO:0001819	synonymous_variant	57502				brainstem development|cell adhesion|cell-cell junction organization|cerebellum development|male courtship behavior|positive regulation of organ growth|regulation of excitatory postsynaptic membrane potential|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior	cell surface|dendrite|integral to plasma membrane|synapse	chloride ion binding|neurexin binding|protein homodimerization activity|receptor activity	g.chrX:5821330G>A	AB033086	CCDS14126.1	Xp22.33	2008-02-05	2004-05-21	2004-05-26	ENSG00000146938	ENSG00000146938			14287	protein-coding gene	gene with protein product		300427	"neuroligin 4"	NLGN4		10574462	Standard	XM_005274564		Approved	KIAA1260, NLGN, HLNX	uc004crr.3	Q8N0W4	OTTHUMG00000021093	ENST00000381095.3:c.1389C>T	X.37:g.5821330G>A						NLGN4X_ENST00000275857.6_Silent_p.Y463Y|NLGN4X_ENST00000381093.2_Silent_p.Y483Y|NLGN4X_ENST00000381092.1_Silent_p.Y463Y|NLGN4X_ENST00000538097.1_Silent_p.Y463Y	p.Y463Y	NM_181332.1	NP_851849.1	Q8N0W4	NLGNX_HUMAN			5	2016	-			463					Q6UX10|Q9ULG0	Silent	SNP	ENST00000381095.3	37	c.1389C>T	CCDS14126.1																																																																																				0.612	NLGN4X-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000055673.1	NM_020742		7	17	0	0	0	1	0	7	17					A	5821330	G	A	5821330	2	1	286	1	0	0	0	0	0	0	0	1	10464	1140	40	1		1	NLGN4X	23	5821330	Silent	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	2228595	5821330	149449230	687	13817											
MAGEB2	4113	broad.mit.edu	37	chrX	30237395	30237395	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cctgaatatgttgggagtctAtgatggagaggagcactcag	11	10	14	6	0	2	3	1	2	1	1	2	6	2	5	1	3	1	2	1	3	3	3			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chrX:30237395A>G	ENST00000378988.4	+	2	799	c.698A>G	c.(697-699)tAt>tGt	p.Y233C		NM_002364.4	NP_002355.2	O15479	MAGB2_HUMAN	melanoma antigen family B, 2	233	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.									breast(1)|large_intestine(3)|lung(17)|ovary(1)|skin(1)	23						TTGGGAGTCTATGATGGAGAG	0.483																																						ENST00000378988.4																			0				breast(1)|large_intestine(3)|lung(17)|ovary(1)|skin(1)	23						c.(697-699)tAt>tGt		melanoma antigen family B, 2							71	64	66					X																	30237395		2202	4300	6502	SO:0001583	missense	4113						protein binding	g.chrX:30237395A>G	AF015766	CCDS14219.1	Xp21.3	2009-03-17			ENSG00000099399	ENSG00000099399			6809	protein-coding gene	gene with protein product	"DSS/AHC critical interval MAGE superfamily 6", "melanoma-associated antigen B2", "cancer/testis antigen family 3, member 2"	300098				9441743	Standard	NM_002364		Approved	DAM6, MAGE-XP-2, MGC26438, CT3.2	uc004dbz.3	O15479	OTTHUMG00000021319	ENST00000378988.4:c.698A>G	X.37:g.30237395A>G	ENSP00000368273:p.Tyr233Cys						p.Y233C	NM_002364.4	NP_002355.2	O15479	MAGB2_HUMAN			2	799	+			233			MAGE.		O75860	Missense_Mutation	SNP	ENST00000378988.4	37	c.698A>G	CCDS14219.1	.	.	.	.	.	.	.	.	.	.	A	14.77	2.634006	0.47049	.	.	ENSG00000099399	ENST00000378988	T	0.05199	3.48	3.27	0.665	0.17896	.	0.382609	0.24321	N	0.039550	T	0.15089	0.0364	M	0.82132	2.575	0.09310	N	1	P	0.50819	0.939	P	0.55345	0.774	T	0.04723	-1.0931	10	0.59425	D	0.04	.	5.3934	0.16257	0.5283:0.0:0.0:0.4717	.	233	O15479	MAGB2_HUMAN	C	233	ENSP00000368273:Y233C	ENSP00000368273:Y233C	Y	+	2	0	MAGEB2	30147316	0.147000	0.22687	0.046000	0.18839	0.404000	0.30871	0.244000	0.18124	0.037000	0.15575	0.356000	0.21956	TAT		0.483	MAGEB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056157.1	NM_002364		3	9	0	0	0	1	0	3	9					G	30237395	A	G	30237395	3	3	286	1	0	0	0	0	1	0	0	0	9176	449	16	4	700	4	MAGEB2	23	30237395	Missense_Mutation	SNP	A	TCGA-J9-A52C-01A-11D-A26M-08	24416065	30237395	125033165	688	13818											
ARAF	369	broad.mit.edu	37	chrX	47428238	47428238	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acctgcatgtggccgacacaCgcttcgacatggtccagctc	8	8	10	15	3	0	0	0	0	0	0	3	2	1	0	3	2	2	3	3	2	0	1			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chrX:47428238C>T	ENST00000377045.4	+	11	1392	c.1198C>T	c.(1198-1200)Cgc>Tgc	p.R400C	ARAF_ENST00000290277.6_3'UTR	NM_001256196.1|NM_001654.4	NP_001243125.1|NP_001645.1	P10398	ARAF_HUMAN	A-Raf proto-oncogene, serine/threonine kinase	400	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular protein modification process (GO:0006464)|negative regulation of apoptotic process (GO:0043066)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032434)|regulation of TOR signaling (GO:0032006)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein activity (GO:0005057)			biliary_tract(1)|endometrium(4)|large_intestine(7)|liver(2)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	29					Adenosine triphosphate(DB00171)	GGCCGACACACGCTTCGACAT	0.632											OREG0019759	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C|||	1	0.000264901	0	0	3775	,	,		11255	0		0.001	False		,,,				2504	0					ENST00000377045.4																			0				biliary_tract(1)|endometrium(4)|large_intestine(7)|liver(2)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	29						c.(1198-1200)Cgc>Tgc		v-raf murine sarcoma 3611 viral oncogene homolog	Adenosine triphosphate(DB00171)						52	36	42					X																	47428238		2203	4300	6503	SO:0001583	missense	369				intracellular signal transduction|negative regulation of apoptosis|positive regulation of peptidyl-serine phosphorylation		ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|receptor signaling protein activity	g.chrX:47428238C>T	X04790	CCDS35232.1, CCDS59164.1, CCDS75970.1	Xp11.3-p11.23	2014-06-26	2014-06-26	2005-01-19	ENSG00000078061	ENSG00000078061			646	protein-coding gene	gene with protein product		311010	"v-raf murine sarcoma 3611 viral oncogene homolog 1"	ARAF1			Standard	NM_001654		Approved		uc004dic.2	P10398	OTTHUMG00000021446	ENST00000377045.4:c.1198C>T	X.37:g.47428238C>T	ENSP00000366244:p.Arg400Cys		OREG0019759	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	946	ARAF_ENST00000290277.6_3'UTR	p.R400C	NM_001256196.1|NM_001654.4	NP_001243125.1|NP_001645.1	P10398	ARAF_HUMAN			11	1392	+			400			Protein kinase.		P07557|Q5H9B2|Q5H9B3	Missense_Mutation	SNP	ENST00000377045.4	37	c.1198C>T	CCDS35232.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.167726	0.78339	.	.	ENSG00000078061	ENST00000377045	D	0.83250	-1.7	5.5	5.5	0.81552	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.064532	0.64402	D	0.000012	D	0.89030	0.6599	M	0.75264	2.295	0.80722	D	1	D;D	0.76494	0.999;0.998	P;D	0.64877	0.892;0.93	D	0.89946	0.4076	10	0.87932	D	0	.	10.7863	0.46407	0.189:0.811:0.0:0.0	.	400;266	P10398;B4DV85	ARAF_HUMAN;.	C	400	ENSP00000366244:R400C	ENSP00000366244:R400C	R	+	1	0	ARAF	47313182	0.994000	0.37717	0.985000	0.45067	0.885000	0.51271	3.290000	0.51755	2.273000	0.75805	0.422000	0.28245	CGC		0.632	ARAF-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056418.1			5	6	0	0	0	1	0	5	6					T	47428238	C	T	47428238	3	4	286	1	0	0	0	0	1	0	0	0	837	536	19	1	1236	1	ARAF	23	47428238	Missense_Mutation	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	17190843	47428238	107842322	689	13819											
IGBP1	3476	broad.mit.edu	37	chrX	69370144	69370144	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cggaaatatggagcattaccGgatcagggaatagccaaggc	14	6	13	8	2	1	0	1	0	0	0	1	4	1	4	2	5	3	1	2	5	6	3			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chrX:69370144G>A	ENST00000342206.6	+	5	1342	c.843G>A	c.(841-843)ccG>ccA	p.P281P	IGBP1_ENST00000356413.4_Silent_p.P281P|IGBP1-AS2_ENST00000403371.2_RNA			P78318	IGBP1_HUMAN	immunoglobulin (CD79A) binding protein 1	281	Interaction with MID1.				B cell activation (GO:0042113)|negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of protein dephosphorylation (GO:0035308)|negative regulation of stress-activated MAPK cascade (GO:0032873)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of dephosphorylation (GO:0035306)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of microtubule-based movement (GO:0060632)|response to interleukin-1 (GO:0070555)|response to tumor necrosis factor (GO:0034612)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|microtubule (GO:0005874)	protein phosphatase type 2A regulator activity (GO:0008601)			kidney(2)|large_intestine(3)|lung(3)|pancreas(1)|prostate(2)	11						GAGCATTACCGGATCAGGGAA	0.463																																					NSCLC(167;1189 1558 6576 8216 30387 37980 41450)	ENST00000342206.6																			0				kidney(2)|large_intestine(3)|lung(3)|pancreas(1)|prostate(2)	11						c.(841-843)ccG>ccA		immunoglobulin (CD79A) binding protein 1							93	72	79					X																	69370144		2203	4300	6503	SO:0001819	synonymous_variant	3476				B cell activation|negative regulation of caspase activity|negative regulation of stress-activated MAPK cascade|negative regulation of transcription from RNA polymerase II promoter|regulation of microtubule-based movement|response to interleukin-1|response to tumor necrosis factor|signal transduction	cytoplasm	protein phosphatase type 2A regulator activity	g.chrX:69370144G>A	Y08915	CCDS14396.1	Xq13.1-q13.3	2008-02-05			ENSG00000089289	ENSG00000089289			5461	protein-coding gene	gene with protein product	"alpha 4"	300139		IBP1		9441740	Standard	NM_001551		Approved		uc004dxw.3	P78318	OTTHUMG00000021767	ENST00000342206.6:c.843G>A	X.37:g.69370144G>A						IGBP1_ENST00000356413.4_Silent_p.P281P	p.P281P			P78318	IGBP1_HUMAN			5	1342	+			281					Q8TAB2	Silent	SNP	ENST00000342206.6	37	c.843G>A	CCDS14396.1																																																																																				0.463	IGBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057052.1			7	3	0	0	0	1	0	7	3					A	69370144	G	A	69370144	2	1	286	1	0	0	0	0	0	0	0	1	7567	1103	39	2		2	IGBP1	23	69370144	Silent	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	21941906	69370144	85900416	690	13820											
GPRASP1	9737	broad.mit.edu	37	chrX	101910582	101910582	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgaagaagagacaatattcGggtcctggttttgggctgaa	11	11	13	6	1	0	4	0	2	0	2	2	5	1	4	1	3	0	2	1	3	5	4			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chrX:101910582G>A	ENST00000361600.5	+	5	2542	c.1741G>A	c.(1741-1743)Ggg>Agg	p.G581R	GPRASP1_ENST00000415986.1_Missense_Mutation_p.G581R|GPRASP1_ENST00000444152.1_Missense_Mutation_p.G581R|RP4-769N13.7_ENST00000602441.1_RNA|GPRASP1_ENST00000537097.1_Missense_Mutation_p.G581R	NM_014710.4	NP_055525.3	Q5JY77	GASP1_HUMAN	G protein-coupled receptor associated sorting protein 1	581	Glu-rich.				endosome to lysosome transport (GO:0008333)|G-protein coupled receptor catabolic process (GO:1990172)	cytoplasm (GO:0005737)				NS(1)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						GACAATATTCGGGTCCTGGTT	0.507																																						ENST00000537097.1																			0				NS(1)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						c.(1741-1743)Ggg>Agg		G protein-coupled receptor associated sorting protein 1							83	91	88					X																	101910582		2203	4300	6503	SO:0001583	missense	9737					cytoplasm	protein binding	g.chrX:101910582G>A	AB007903	CCDS35352.1	Xq22.1	2014-03-21			ENSG00000198932	ENSG00000198932		"Armadillo repeat containing"	24834	protein-coding gene	gene with protein product		300417				9455477, 15086532, 16221301	Standard	NM_014710		Approved	GASP, GASP1	uc010nod.3	Q5JY77	OTTHUMG00000022061	ENST00000361600.5:c.1741G>A	X.37:g.101910582G>A	ENSP00000355146:p.Gly581Arg					GPRASP1_ENST00000415986.1_Missense_Mutation_p.G581R|GPRASP1_ENST00000361600.5_Missense_Mutation_p.G581R|GPRASP1_ENST00000444152.1_Missense_Mutation_p.G581R|RP4-769N13.7_ENST00000602441.1_RNA	p.G581R	NM_001184727.1	NP_001171656.1	Q5JY77	GASP1_HUMAN			6	2554	+			581			Glu-rich.		O43168|Q96LA1	Missense_Mutation	SNP	ENST00000361600.5	37	c.1741G>A	CCDS35352.1	.	.	.	.	.	.	.	.	.	.	G	11.53	1.665861	0.29604	.	.	ENSG00000198932	ENST00000415986;ENST00000444152;ENST00000361600;ENST00000537097	T;T;T;T	0.09538	2.97;2.97;2.97;2.97	2.76	0.91	0.19337	.	.	.	.	.	T	0.06554	0.0168	L	0.48642	1.525	0.09310	N	1	P	0.38711	0.643	B	0.21546	0.035	T	0.32402	-0.9908	9	0.41790	T	0.15	-0.2809	2.9879	0.05974	0.1567:0.0:0.5769:0.2664	.	581	Q5JY77	GASP1_HUMAN	R	581	ENSP00000393691:G581R;ENSP00000409420:G581R;ENSP00000355146:G581R;ENSP00000445683:G581R	ENSP00000355146:G581R	G	+	1	0	GPRASP1	101797238	0.278000	0.24230	0.001000	0.08648	0.448000	0.32197	0.183000	0.16919	0.131000	0.18576	0.519000	0.50382	GGG		0.507	GPRASP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057634.2	NM_014710		24	52	0	0	0	1	0	24	52					A	101910582	G	A	101910582	3	1	286	1	0	0	0	0	1	0	0	0	6722	1116	39	2	1743	2	GPRASP1	23	101910582	Missense_Mutation	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	32540438	101910582	53359978	691	13821											
MCART6	401612	broad.mit.edu	37	chrX	103349894	103349894	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcctggagcctctgctcgcGtcctgtgctgaagctccttc	3	13	10	15	2	1	1	0	1	1	0	6	2	4	2	4	1	4	3	4	1	1	2	rs370922777		TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chrX:103349894G>A	ENST00000357421.4	-	2	227	c.47C>T	c.(46-48)aCg>aTg	p.T16M		NM_001012755.3	NP_001012773.2	Q5H9E4	S2553_HUMAN	solute carrier family 25, member 53	16					transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)		p.T16M(1)									CTCTGCTCGCGTCCTGTGCTG	0.522																																						ENST00000357421.4																			1	Substitution - Missense(1)	p.T16M(1)	kidney(1)								c.(46-48)aCg>aTg		solute carrier family 25, member 53			MET/THR	1,3832		0,1,1631,569	52	49	50		47	1.7	0	X		50	0,6728		0,0,2428,1872	no	missense	MCART6	NM_001012755.3	81	0,1,4059,2441	AA,AG,GG,G		0.0,0.0261,0.0095	benign	16/308	103349894	1,10560	2201	4300	6501	SO:0001583	missense	401612				transport	integral to membrane|mitochondrial inner membrane		g.chrX:103349894G>A		CCDS35363.1	Xq22.2	2013-05-22	2012-03-29	2012-03-29	ENSG00000176274	ENSG00000269743		"Solute carriers"	31894	protein-coding gene	gene with protein product			"mitochondrial carrier triple repeat 6"	MCART6			Standard	NM_001012755		Approved		uc004elu.3	Q5H9E4	OTTHUMG00000022124	ENST00000357421.4:c.47C>T	X.37:g.103349894G>A	ENSP00000361681:p.Thr16Met						p.T16M	NM_001012755.3	NP_001012773.2	Q5H9E4	MCAR6_HUMAN			2	227	-			16					B2RTT9	Missense_Mutation	SNP	ENST00000357421.4	37	c.47C>T	CCDS35363.1	.	.	.	.	.	.	.	.	.	.	g	0.445	-0.896553	0.02472	2.61E-4	0.0	ENSG00000176274	ENST00000357421	T	0.74842	-0.88	3.49	1.71	0.24356	.	0.910551	0.09193	N	0.835686	T	0.53449	0.1797	N	0.19112	0.55	0.09310	N	1	B	0.33904	0.431	B	0.24006	0.05	T	0.41378	-0.9512	10	0.45353	T	0.12	-11.9024	5.2124	0.15325	0.2821:0.0:0.7179:0.0	.	16	Q5H9E4	MCAR6_HUMAN	M	16	ENSP00000361681:T16M	ENSP00000361681:T16M	T	-	2	0	MCART6	103236550	0.001000	0.12720	0.010000	0.14722	0.045000	0.14185	-0.095000	0.11077	0.330000	0.23485	-0.312000	0.09012	ACG		0.522	SLC25A53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057761.1	NM_001012755		6	16	0	0	0	1	0	6	16					A	103349894	G	A	103349894	3	1	286	1	0	0	0	0	1	0	0	0	9371	1145	40	1	880	1	MCART6	23	103349894	Missense_Mutation	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	1439312	103349894	51920666	692	13822											
IGSF1	3547	broad.mit.edu	37	chrX	130408141	130408141	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccaccacgattaggctacttCggacaatgttccctacagtg	10	10	8	13	2	0	0	0	0	0	0	2	2	1	1	3	2	2	2	3	2	4	5			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chrX:130408141C>T	ENST00000361420.3	-	19	3870	c.3791G>A	c.(3790-3792)cGa>cAa	p.R1264Q	IGSF1_ENST00000370910.1_Missense_Mutation_p.R1255Q|IGSF1_ENST00000370903.3_Missense_Mutation_p.R1269Q|IGSF1_ENST00000370904.1_Missense_Mutation_p.R1255Q|IGSF1_ENST00000467244.1_5'Flank			Q8N6C5	IGSF1_HUMAN	immunoglobulin superfamily, member 1	1264					regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	coreceptor activity (GO:0015026)|inhibin binding (GO:0034711)|receptor activity (GO:0004872)			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						TAGGCTACTTCGGACAATGTT	0.517																																						ENST00000370904.1																			0				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						c.(3763-3765)cGa>cAa		immunoglobulin superfamily, member 1							235	199	211					X																	130408141		2203	4300	6503	SO:0001583	missense	3547				regulation of transcription, DNA-dependent	extracellular region|integral to membrane	inhibin beta-A binding|inhibin beta-B binding	g.chrX:130408141C>T	AF034198	CCDS14629.1, CCDS14630.1, CCDS55490.1, CCDS55491.1	Xq25	2013-01-11			ENSG00000147255	ENSG00000147255		"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5948	protein-coding gene	gene with protein product		300137				9521868, 9729118	Standard	NM_001555		Approved	KIAA0364, IGDC1, IGCD1, INHBP, MGC75490, PGSF2	uc004ewe.4	Q8N6C5	OTTHUMG00000022406	ENST00000361420.3:c.3791G>A	X.37:g.130408141C>T	ENSP00000355010:p.Arg1264Gln					IGSF1_ENST00000361420.3_Missense_Mutation_p.R1264Q|IGSF1_ENST00000370903.3_Missense_Mutation_p.R1269Q|IGSF1_ENST00000370910.1_Missense_Mutation_p.R1255Q	p.R1255Q			Q8N6C5	IGSF1_HUMAN			25	4674	-			1264					B5MEG2|H9KV64|O15070|Q9NTC8	Missense_Mutation	SNP	ENST00000361420.3	37	c.3764G>A	CCDS14629.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.136548	0.77662	.	.	ENSG00000147255	ENST00000370910;ENST00000361420;ENST00000370904;ENST00000370903	T;T;T;T	0.00873	5.61;5.61;5.61;5.59	4.48	3.62	0.41486	.	0.000000	0.42420	D	0.000709	T	0.03608	0.0103	M	0.67700	2.07	0.28632	N	0.907592	D;D;D	0.89917	0.981;1.0;0.998	P;D;D	0.83275	0.867;0.996;0.945	T	0.09552	-1.0669	10	0.56958	D	0.05	.	7.4211	0.27073	0.0:0.882:0.0:0.118	.	1255;708;1264	Q8N6C5-2;C9JP68;Q8N6C5	.;.;IGSF1_HUMAN	Q	1255;1264;1255;1269	ENSP00000359947:R1255Q;ENSP00000355010:R1264Q;ENSP00000359941:R1255Q;ENSP00000359940:R1269Q	ENSP00000355010:R1264Q	R	-	2	0	IGSF1	130235822	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	1.888000	0.39708	1.228000	0.43614	0.544000	0.68410	CGA		0.517	IGSF1-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058288.1			23	64	0	0	0	1	0	23	64					T	130408141	C	T	130408141	3	4	286	1	0	0	0	0	1	0	0	0	7596	884	31	2	227	2	IGSF1	23	130408141	Missense_Mutation	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	27058247	130408141	24862419	693	13823											
ARHGEF6	9459	broad.mit.edu	37	chrX	135790919	135790919	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagtaaagatgtaacctccaCagtactcagactgaaaaaaa	19	7	6	9	0	1	3	1	1	0	2	2	3	2	3	2	0	2	3	2	0	7	3			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chrX:135790919C>T	ENST00000250617.6	-	8	2043	c.838G>A	c.(838-840)Gtg>Atg	p.V280M	ARHGEF6_ENST00000370622.1_Missense_Mutation_p.V126M|ARHGEF6_ENST00000370620.1_Missense_Mutation_p.V126M|ARHGEF6_ENST00000535227.1_Missense_Mutation_p.V153M	NM_004840.2	NP_004831.1	Q15052	ARHG6_HUMAN	Rac/Cdc42 guanine nucleotide exchange factor (GEF) 6	280	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cell junction assembly (GO:0034329)|JNK cascade (GO:0007254)|lamellipodium assembly (GO:0030032)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)|intracellular (GO:0005622)|lamellipodium (GO:0030027)	GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(1)|lung(14)|prostate(1)	38	Acute lymphoblastic leukemia(192;0.000127)					GTAACCTCCACAGTACTCAGA	0.358																																						ENST00000250617.6																			0				cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(1)|lung(14)|prostate(1)	38						c.(838-840)Gtg>Atg		Rac/Cdc42 guanine nucleotide exchange factor (GEF) 6							82	70	75					X																	135790919		2203	4300	6503	SO:0001583	missense	9459				apoptosis|cell junction assembly|induction of apoptosis by extracellular signals|JNK cascade|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	g.chrX:135790919C>T	D13631	CCDS14660.1	Xq26	2013-01-10	2002-05-23		ENSG00000129675	ENSG00000129675		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	685	protein-coding gene	gene with protein product	"Rac/Cdc42 guanine exchange factor (GEF) 6", "PAK-interacting exchange factor, alpha", "rho guanine nucleotide exchange factor 6"	300267	"mental retardation, X-linked 46"	MRX46		7584048, 9659915	Standard	NM_004840		Approved	alphaPIX, Cool-2, KIAA0006, alpha-PIX, Cool2	uc004fab.3	Q15052	OTTHUMG00000022518	ENST00000250617.6:c.838G>A	X.37:g.135790919C>T	ENSP00000250617:p.Val280Met					ARHGEF6_ENST00000370620.1_Missense_Mutation_p.V126M|ARHGEF6_ENST00000370622.1_Missense_Mutation_p.V126M|ARHGEF6_ENST00000535227.1_Missense_Mutation_p.V153M	p.V280M	NM_004840.2	NP_004831.1	Q15052	ARHG6_HUMAN			8	2043	-	Acute lymphoblastic leukemia(192;0.000127)		280			DH.		A6NMW9|A8K6S7|B1AL37|Q15396|Q5JQ66|Q7Z3W1|Q86XH0	Missense_Mutation	SNP	ENST00000250617.6	37	c.838G>A	CCDS14660.1	.	.	.	.	.	.	.	.	.	.	C	14.26	2.481788	0.44147	.	.	ENSG00000129675	ENST00000250617;ENST00000370620;ENST00000370622;ENST00000535736;ENST00000535227	T;T;T;T	0.63255	-0.03;-0.03;-0.03;-0.03	6.08	6.08	0.98989	Dbl homology (DH) domain (5);	0.106892	0.64402	D	0.000005	T	0.71160	0.3307	L	0.52759	1.655	0.49051	D	0.999741	P;B	0.45283	0.855;0.372	P;B	0.53954	0.738;0.216	T	0.70048	-0.4979	10	0.49607	T	0.09	.	18.1424	0.89644	0.0:1.0:0.0:0.0	.	153;280	B7Z3C7;Q15052	.;ARHG6_HUMAN	M	280;126;126;126;153	ENSP00000250617:V280M;ENSP00000359654:V126M;ENSP00000359656:V126M;ENSP00000439483:V153M	ENSP00000250617:V280M	V	-	1	0	ARHGEF6	135618585	1.000000	0.71417	1.000000	0.80357	0.640000	0.38277	3.699000	0.54778	2.562000	0.86427	0.600000	0.82982	GTG		0.358	ARHGEF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058511.2	NM_004840		6	13	0	0	0	1	0	6	13					T	135790919	C	T	135790919	3	4	286	1	0	0	0	0	1	0	0	0	910	478	17	3	1552	3	ARHGEF6	23	135790919	Missense_Mutation	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	5382778	135790919	19479641	694	13824											
MAGEA6	4105	broad.mit.edu	37	chrX	151869697	151869697	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aagtatcgagccagggagccGgtcacaaaggcagaaatgct	14	5	13	9	2	1	1	1	0	0	1	2	3	1	2	2	3	3	3	2	3	4	1	rs144510184		TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chrX:151869697G>A	ENST00000329342.5	+	3	612	c.387G>A	c.(385-387)ccG>ccA	p.P129P		NM_005363.2	NP_005354.1	P43360	MAGA6_HUMAN	melanoma antigen family A, 6	129	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.									breast(1)|endometrium(3)|large_intestine(3)|lung(16)|prostate(3)|skin(1)|urinary_tract(1)	28	Acute lymphoblastic leukemia(192;6.56e-05)					CCAGGGAGCCGGTCACAAAGG	0.522																																						ENST00000329342.5																			0				breast(1)|endometrium(3)|large_intestine(3)|lung(16)|prostate(3)|skin(1)|urinary_tract(1)	28						c.(385-387)ccG>ccA		melanoma antigen family A, 6							129	122	124					X																	151869697		2202	4298	6500	SO:0001819	synonymous_variant	4105						protein binding	g.chrX:151869697G>A		CCDS76050.1	Xq28	2009-03-13			ENSG00000197172	ENSG00000197172			6804	protein-coding gene	gene with protein product	"MAGE-6 antigen", "melanoma-associated antigen 6", "melanoma antigen family A 6", "cancer/testis antigen family 1, member 6"	300176		MAGE6		8575766	Standard	NM_005363		Approved	CT1.6	uc004ffq.1	P43360	OTTHUMG00000022642	ENST00000329342.5:c.387G>A	X.37:g.151869697G>A							p.P129P	NM_005363.2	NP_005354.1	P43360	MAGA6_HUMAN			3	612	+	Acute lymphoblastic leukemia(192;6.56e-05)		129			MAGE.		A8IF93|Q6NW44	Silent	SNP	ENST00000329342.5	37	c.387G>A	CCDS14708.1																																																																																				0.522	MAGEA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058747.2	NM_005363		21	140	0	0	0	1	0	21	140					A	151869697	G	A	151869697	2	1	286	1	0	0	0	0	0	0	0	1	9170	1103	39	2		2	MAGEA6	23	151869697	Silent	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	16078778	151869697	3400863	695	13825											
ATP2B3	492	broad.mit.edu	37	chrX	152807165	152807165	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gaggcgcagaagatgagggcGaggccgaagctggctggatc	10	4	19	8	3	0	3	0	1	0	2	1	7	0	4	1	5	1	3	1	5	2	0			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chrX:152807165G>A	ENST00000349466.2	+	4	771	c.445G>A	c.(445-447)Gag>Aag	p.E149K	ATP2B3_ENST00000370181.2_Missense_Mutation_p.E149K|ATP2B3_ENST00000393842.1_Missense_Mutation_p.E149K|ATP2B3_ENST00000359149.3_Missense_Mutation_p.E149K|ATP2B3_ENST00000263519.4_Missense_Mutation_p.E149K|ATP2B3_ENST00000370186.1_Missense_Mutation_p.E149K			Q16720	AT2B3_HUMAN	ATPase, Ca++ transporting, plasma membrane 3	149					blood coagulation (GO:0007596)|cell death (GO:0008219)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)|transport (GO:0006810)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|metal ion binding (GO:0046872)			NS(2)|breast(5)|endometrium(7)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(3)	50	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					AGATGAGGGCGAGGCCGAAGC	0.602																																						ENST00000370186.1																			0				NS(2)|breast(5)|endometrium(7)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(3)	50						c.(445-447)Gag>Aag		ATPase, Ca++ transporting, plasma membrane 3							100	80	87					X																	152807165		2203	4300	6503	SO:0001583	missense	492				ATP biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding	g.chrX:152807165G>A	U60414	CCDS14722.1, CCDS35440.1	Xq28	2014-07-18			ENSG00000067842	ENSG00000067842	3.6.3.8	"ATPases / P-type"	816	protein-coding gene	gene with protein product	"plasma membrane calcium-transporting ATPase 3", "cilia and flagella associated protein 39"	300014	"spinocerebellar ataxia, X-linked 1", "cerebellar ataxia 2 (X-linked)"	SCAX1, CLA2		8187550, 22912398	Standard	NM_021949		Approved	PMCA3, CFAP39	uc004fht.1	Q16720	OTTHUMG00000024202	ENST00000349466.2:c.445G>A	X.37:g.152807165G>A	ENSP00000343886:p.Glu149Lys					ATP2B3_ENST00000349466.2_Missense_Mutation_p.E149K|ATP2B3_ENST00000370181.2_Missense_Mutation_p.E149K|ATP2B3_ENST00000359149.3_Missense_Mutation_p.E149K|ATP2B3_ENST00000393842.1_Missense_Mutation_p.E149K|ATP2B3_ENST00000263519.4_Missense_Mutation_p.E149K	p.E149K			Q16720	AT2B3_HUMAN			4	771	+	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		149					B7WNR8|B7WNY5|Q12995|Q16858	Missense_Mutation	SNP	ENST00000349466.2	37	c.445G>A	CCDS35440.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.332857	0.81801	.	.	ENSG00000067842	ENST00000370186;ENST00000349466;ENST00000393842;ENST00000359149;ENST00000263519;ENST00000370181	D;D;D;D;D;D	0.88741	-2.42;-2.42;-2.42;-2.42;-2.42;-2.42	5.68	5.68	0.88126	ATPase,  P-type, cytoplasmic transduction domain A (1);	0.000000	0.85682	D	0.000000	D	0.91670	0.7367	M	0.92268	3.29	0.54753	D	0.999989	P;P	0.41475	0.637;0.751	B;B	0.37422	0.126;0.249	D	0.93161	0.6558	10	0.62326	D	0.03	-23.8923	17.3953	0.87443	0.0:0.0:1.0:0.0	.	149;149	Q16720;Q16720-2	AT2B3_HUMAN;.	K	149	ENSP00000359205:E149K;ENSP00000343886:E149K;ENSP00000377425:E149K;ENSP00000352062:E149K;ENSP00000263519:E149K;ENSP00000359200:E149K	ENSP00000263519:E149K	E	+	1	0	ATP2B3	152460359	1.000000	0.71417	0.882000	0.34594	0.027000	0.11550	9.800000	0.99124	2.377000	0.81083	0.600000	0.82982	GAG		0.602	ATP2B3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060957.1	NM_021949		15	26	0	0	0	1	0	15	26					A	152807165	G	A	152807165	3	1	286	1	0	0	0	0	1	0	0	0	1141	1059	37	2	455	2	ATP2B3	23	152807165	Missense_Mutation	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	937468	152807165	2463395	696	13826											
ATP2B3	492	broad.mit.edu	37	chrX	152821637	152821637	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcccggggaggacttcctgtGcctagaagggaaggagttca	9	7	16	9	1	1	1	1	0	0	1	2	5	2	5	3	5	1	1	3	5	3	3			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chrX:152821637G>A	ENST00000349466.2	+	13	2515	c.2189G>A	c.(2188-2190)tGc>tAc	p.C730Y	ATP2B3_ENST00000370181.2_Missense_Mutation_p.C716Y|ATP2B3_ENST00000393842.1_Missense_Mutation_p.C716Y|ATP2B3_ENST00000359149.3_Missense_Mutation_p.C730Y|ATP2B3_ENST00000263519.4_Missense_Mutation_p.C730Y|ATP2B3_ENST00000370186.1_Missense_Mutation_p.C716Y			Q16720	AT2B3_HUMAN	ATPase, Ca++ transporting, plasma membrane 3	730					blood coagulation (GO:0007596)|cell death (GO:0008219)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)|transport (GO:0006810)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|metal ion binding (GO:0046872)			NS(2)|breast(5)|endometrium(7)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(3)	50	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GACTTCCTGTGCCTAGAAGGG	0.637																																						ENST00000370186.1																			0				NS(2)|breast(5)|endometrium(7)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(3)	50						c.(2146-2148)tGc>tAc		ATPase, Ca++ transporting, plasma membrane 3							58	51	53					X																	152821637		2203	4300	6503	SO:0001583	missense	492				ATP biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding	g.chrX:152821637G>A	U60414	CCDS14722.1, CCDS35440.1	Xq28	2014-07-18			ENSG00000067842	ENSG00000067842	3.6.3.8	"ATPases / P-type"	816	protein-coding gene	gene with protein product	"plasma membrane calcium-transporting ATPase 3", "cilia and flagella associated protein 39"	300014	"spinocerebellar ataxia, X-linked 1", "cerebellar ataxia 2 (X-linked)"	SCAX1, CLA2		8187550, 22912398	Standard	NM_021949		Approved	PMCA3, CFAP39	uc004fht.1	Q16720	OTTHUMG00000024202	ENST00000349466.2:c.2189G>A	X.37:g.152821637G>A	ENSP00000343886:p.Cys730Tyr					ATP2B3_ENST00000349466.2_Missense_Mutation_p.C730Y|ATP2B3_ENST00000370181.2_Missense_Mutation_p.C716Y|ATP2B3_ENST00000359149.3_Missense_Mutation_p.C730Y|ATP2B3_ENST00000393842.1_Missense_Mutation_p.C716Y|ATP2B3_ENST00000263519.4_Missense_Mutation_p.C730Y	p.C716Y			Q16720	AT2B3_HUMAN			12	2473	+	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		730					B7WNR8|B7WNY5|Q12995|Q16858	Missense_Mutation	SNP	ENST00000349466.2	37	c.2147G>A	CCDS35440.1	.	.	.	.	.	.	.	.	.	.	G	23.5	4.422299	0.83559	.	.	ENSG00000067842	ENST00000370186;ENST00000349466;ENST00000393842;ENST00000359149;ENST00000263519;ENST00000370181	D;D;D;D;D;D	0.96830	-4.14;-4.14;-4.14;-4.14;-4.14;-4.14	4.74	4.74	0.60224	Haloacid dehalogenase-like hydrolase (1);HAD-like domain (1);ATPase, P-type,  transmembrane domain (1);	0.000000	0.85682	D	0.000000	D	0.95674	0.8593	L	0.58354	1.805	0.58432	D	0.999994	P;P	0.42973	0.796;0.758	P;B	0.45138	0.471;0.34	D	0.96355	0.9261	10	0.87932	D	0	-27.4374	15.9081	0.79447	0.0:0.0:1.0:0.0	.	730;730	Q16720;Q16720-2	AT2B3_HUMAN;.	Y	716;730;716;730;730;716	ENSP00000359205:C716Y;ENSP00000343886:C730Y;ENSP00000377425:C716Y;ENSP00000352062:C730Y;ENSP00000263519:C730Y;ENSP00000359200:C716Y	ENSP00000263519:C730Y	C	+	2	0	ATP2B3	152474831	1.000000	0.71417	1.000000	0.80357	0.920000	0.55202	9.721000	0.98766	2.090000	0.63153	0.436000	0.28706	TGC		0.637	ATP2B3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060957.1	NM_021949		12	22	0	0	0	1	0	12	22					A	152821637	G	A	152821637	3	1	286	1	0	0	0	0	1	0	0	0	1141	1319	46	3	2235	3	ATP2B3	23	152821637	Missense_Mutation	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	14472	152821637	2448923	697	13827											
PLXNB3	5365	broad.mit.edu	37	chrX	153033811	153033811	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aagctcgggcagccggtcagCgccgtggcagctctccaggc	6	5	15	15	4	2	0	1	0	1	0	4	0	2	0	3	4	4	4	3	4	1	0			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chrX:153033811C>T	ENST00000361971.5	+	4	1308	c.1194C>T	c.(1192-1194)agC>agT	p.S398S	PLXNB3_ENST00000538282.1_Silent_p.S51S|PLXNB3_ENST00000538966.1_Silent_p.S421S|U52111.14_ENST00000416854.1_RNA|PLXNB3_ENST00000538543.1_Intron|U52111.14_ENST00000434284.1_RNA|PLXNB3_ENST00000538776.1_Silent_p.S51S	NM_005393.2	NP_005384.2	Q9ULL4	PLXB3_HUMAN	plexin B3	398	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|cell chemotaxis (GO:0060326)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell migration (GO:0030336)|negative regulation of GTPase activity (GO:0034260)|negative regulation of lamellipodium assembly (GO:0010593)|positive chemotaxis (GO:0050918)|positive regulation of endothelial cell proliferation (GO:0001938)|semaphorin-plexin signaling pathway (GO:0071526)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	protein domain specific binding (GO:0019904)|semaphorin receptor activity (GO:0017154)			central_nervous_system(1)|endometrium(7)|large_intestine(2)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)					AGCCGGTCAGCGCCGTGGCAG	0.692													C|||	2	0.000529801	8e-04	0	3775	,	,		11837	0		0	False		,,,				2504	0.001					ENST00000538966.1																			0				central_nervous_system(1)|endometrium(7)|large_intestine(2)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32						c.(1261-1263)agC>agT		plexin B3							33	34	33					X																	153033811		2199	4296	6495	SO:0001819	synonymous_variant	5365				axon guidance	integral to membrane|intracellular|plasma membrane	protein binding|receptor activity	g.chrX:153033811C>T	AF149019	CCDS14729.1, CCDS55536.1	Xq28	2008-02-05			ENSG00000198753	ENSG00000198753		"Plexins"	9105	protein-coding gene	gene with protein product		300214		PLXN6		10520995	Standard	NM_005393		Approved	PLEXR, PLEXB3	uc010nuk.2	Q9ULL4	OTTHUMG00000024217	ENST00000361971.5:c.1194C>T	X.37:g.153033811C>T						PLXNB3_ENST00000538282.1_Silent_p.S51S|PLXNB3_ENST00000361971.5_Silent_p.S398S|PLXNB3_ENST00000538776.1_Silent_p.S51S|PLXNB3_ENST00000538543.1_Intron	p.S421S	NM_001163257.1	NP_001156729.1	Q9ULL4	PLXB3_HUMAN			5	1534	+	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)		398			Sema.		B7Z3E6|F5H773|Q9HDA4	Silent	SNP	ENST00000361971.5	37	c.1263C>T	CCDS14729.1																																																																																				0.692	PLXNB3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000061063.1			6	22	0	0	0	1	0	6	22					T	153033811	C	T	153033811	2	4	286	1	0	0	0	0	0	0	0	1	12125	767	27	1		1	PLXNB3	23	153033811	Silent	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	212174	153033811	2236749	698	13828											
SLC10A3	8273	broad.mit.edu	37	chrX	153716036	153716036	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctacctcaatgctgaccgtcCgccgctgggccactggcagc	6	7	11	17	3	1	1	1	1	0	0	2	1	2	1	5	2	3	3	5	2	2	1			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chrX:153716036C>T	ENST00000393587.4	-	3	1507	c.1244G>A	c.(1243-1245)cGg>cAg	p.R415Q	SLC10A3_ENST00000369649.4_Missense_Mutation_p.R386Q|UBL4A_ENST00000369653.4_5'Flank|UBL4A_ENST00000477777.1_5'Flank|UBL4A_ENST00000369660.4_5'Flank|SLC10A3_ENST00000263512.4_Missense_Mutation_p.R415Q|SLC10A3_ENST00000393586.1_Missense_Mutation_p.R470Q	NM_001142391.1|NM_001142392.1	NP_001135863.1|NP_001135864.1	P09131	P3_HUMAN	solute carrier family 10, member 3	415					response to retinoic acid (GO:0032526)	integral component of membrane (GO:0016021)	bile acid:sodium symporter activity (GO:0008508)			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GCTGACCGTCCGCCGCTGGGC	0.642																																						ENST00000263512.4																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15						c.(1243-1245)cGg>cAg		solute carrier family 10, member 3							44	36	39					X																	153716036		2201	4298	6499	SO:0001583	missense	8273				organic anion transport	integral to membrane	bile acid:sodium symporter activity	g.chrX:153716036C>T	X12458	CCDS14755.1, CCDS48195.1	Xq28	2013-07-18	2013-07-18		ENSG00000126903	ENSG00000126903		"Solute carriers"	22979	protein-coding gene	gene with protein product		312090				8733135	Standard	NM_019848		Approved	P3, DXS253E	uc004flq.3	P09131	OTTHUMG00000013369	ENST00000393587.4:c.1244G>A	X.37:g.153716036C>T	ENSP00000377212:p.Arg415Gln					SLC10A3_ENST00000369649.4_Missense_Mutation_p.R386Q|SLC10A3_ENST00000393586.1_Missense_Mutation_p.R470Q|SLC10A3_ENST00000393587.4_Missense_Mutation_p.R415Q	p.R415Q	NM_019848.3	NP_062822.1	P09131	P3_HUMAN			2	1742	-	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)		415					Q5HY79|Q9BSL2	Missense_Mutation	SNP	ENST00000393587.4	37	c.1244G>A	CCDS14755.1	.	.	.	.	.	.	.	.	.	.	C	24.7	4.563985	0.86335	.	.	ENSG00000126903	ENST00000369649;ENST00000393586;ENST00000263512;ENST00000393587	T;T;T;T	0.13901	2.69;2.55;2.55;2.55	5.4	5.4	0.78164	.	0.073137	0.51477	U	0.000089	T	0.44052	0.1275	M	0.91406	3.205	0.42035	D	0.991041	D;D	0.76494	0.999;0.997	P;P	0.61533	0.89;0.89	T	0.55964	-0.8057	10	0.52906	T	0.07	-6.7375	16.8688	0.86036	0.0:1.0:0.0:0.0	.	386;415	Q9BSL2;P09131	.;P3_HUMAN	Q	386;470;415;415	ENSP00000358663:R386Q;ENSP00000377211:R470Q;ENSP00000263512:R415Q;ENSP00000377212:R415Q	ENSP00000263512:R415Q	R	-	2	0	SLC10A3	153369230	1.000000	0.71417	0.700000	0.30305	0.821000	0.46438	2.479000	0.45197	2.244000	0.73946	0.513000	0.50165	CGG		0.642	SLC10A3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000037235.3	NM_019848		3	19	0	0	0	1	0	3	19					T	153716036	C	T	153716036	3	4	286	1	0	0	0	0	1	0	0	0	14375	652	23	2	193	2	SLC10A3	23	153716036	Missense_Mutation	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	682225	153716036	1554524	699	13829											
CTPS	1503	broad.mit.edu	37	chr1	41475253	41475253	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctccagaaaggctgcaggctCtcacccaggtaggcgcactc	9	6	11	15	1	1	1	1	0	1	1	4	1	2	1	2	4	1	5	2	4	2	1			TCGA-J9-A52D-01A-11D-A29Q-08	TCGA-J9-A52D-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e63c8077-ee5f-4ff5-a416-8f73b2675957	14d30fae-711c-4b77-a452-4fd8eb1c039c	g.chr1:41475253C>G	ENST00000372621.4	+	17	2191	c.1683C>G	c.(1681-1683)ctC>ctG	p.L561L	CTPS1_ENST00000541520.1_Silent_p.L330L|CTPS1_ENST00000372616.1_Silent_p.L561L	NM_001905.2	NP_001896.2			CTP synthase 1											endometrium(3)|lung(10)	13						GCTGCAGGCTCTCACCCAGGT	0.537																																						ENST00000372621.4																			0				endometrium(3)|lung(10)	13						c.(1681-1683)ctC>ctG		CTP synthase 1	L-Glutamine(DB00130)						107	106	106					1																	41475253		2203	4300	6503	SO:0001819	synonymous_variant	1503				CTP biosynthetic process|glutamine metabolic process|nucleobase, nucleoside and nucleotide interconversion|response to drug	cytosol	ATP binding|CTP synthase activity|protein binding	g.chr1:41475253C>G	BC009408	CCDS459.1	1p34.1	2012-05-02	2012-05-02	2012-05-02	ENSG00000171793	ENSG00000171793	6.3.4.2		2519	protein-coding gene	gene with protein product		123860	"CTP synthase"	CTPS		1783378	Standard	XM_005270536		Approved		uc001cgk.4	P17812	OTTHUMG00000005712	ENST00000372621.4:c.1683C>G	1.37:g.41475253C>G						CTPS1_ENST00000541520.1_Silent_p.L330L|CTPS1_ENST00000372616.1_Silent_p.L561L	p.L561L	NM_001905.2	NP_001896.2	P17812	PYRG1_HUMAN			17	2191	+			561						Silent	SNP	ENST00000372621.4	37	c.1683C>G	CCDS459.1																																																																																				0.537	CTPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000015629.1	NM_001905		44	57	0	0	0	1	0	44	57					G	41475253	C	G	41475253	2	3	287	1	0	0	0	0	0	0	0	1	4022	900	32	5		5	CTPS	1	41475253	Silent	SNP	C	TCGA-J9-A52D-01A-11D-A29Q-08		41475253	207775368	1	13830											
KDM4A	9682	broad.mit.edu	37	chr1	44163650	44163650	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	agtcaactttgatgatggctCcttcagcgacaatctttatc	10	14	7	10	1	3	2	2	2	1	0	5	3	4	2	1	1	2	1	1	1	3	4			TCGA-J9-A52D-01A-11D-A29Q-08	TCGA-J9-A52D-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e63c8077-ee5f-4ff5-a416-8f73b2675957	14d30fae-711c-4b77-a452-4fd8eb1c039c	g.chr1:44163650C>T	ENST00000372396.3	+	19	2941	c.2807C>T	c.(2806-2808)tCc>tTc	p.S936F	KDM4A-AS1_ENST00000439057.1_RNA|KDM4A-AS1_ENST00000398804.3_RNA	NM_014663.2	NP_055478.2	O75164	KDM4A_HUMAN	lysine (K)-specific demethylase 4A	936	Tudor 1.				cardiac muscle hypertrophy in response to stress (GO:0014898)|histone demethylation (GO:0016577)|histone H3-K36 demethylation (GO:0070544)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	histone demethylase activity (H3-K36 specific) (GO:0051864)|methylated histone binding (GO:0035064)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(13)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	37						GATGATGGCTCCTTCAGCGAC	0.483																																						ENST00000372396.3																			0				breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(13)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	37						c.(2806-2808)tCc>tTc		lysine (K)-specific demethylase 4A							120	116	118					1																	44163650		2203	4300	6503	SO:0001583	missense	9682				interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|nucleolus	histone demethylase activity (H3-K36 specific)|nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding	g.chr1:44163650C>T	AB014577	CCDS491.1	1p34.1	2013-01-23	2009-04-06	2009-04-06	ENSG00000066135	ENSG00000066135		"Chromatin-modifying enzymes / K-demethylases", "Tudor domain containing"	22978	protein-coding gene	gene with protein product	"jumonji C domain-containing histone demethylase 3A", "tudor domain containing 14A"	609764	"jumonji domain containing 2", "jumonji domain containing 2A"	JMJD2, JMJD2A		9734811, 15138608	Standard	XM_005271354		Approved	KIAA0677, JHDM3A, TDRD14A	uc001cjx.3	O75164	OTTHUMG00000007560	ENST00000372396.3:c.2807C>T	1.37:g.44163650C>T	ENSP00000361473:p.Ser936Phe						p.S936F	NM_014663.2	NP_055478.2	O75164	KDM4A_HUMAN			19	2941	+			936			Tudor 1.		Q5VVB1	Missense_Mutation	SNP	ENST00000372396.3	37	c.2807C>T	CCDS491.1	.	.	.	.	.	.	.	.	.	.	C	34	5.334399	0.95758	.	.	ENSG00000066135	ENST00000372396	T	0.73897	-0.79	6.08	6.08	0.98989	Tudor domain (1);	0.000000	0.85682	D	0.000000	D	0.88358	0.6415	M	0.83953	2.67	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	D	0.88464	0.3057	10	0.87932	D	0	-23.5429	20.6634	0.99662	0.0:1.0:0.0:0.0	.	936	O75164	KDM4A_HUMAN	F	936	ENSP00000361473:S936F	ENSP00000361473:S936F	S	+	2	0	KDM4A	43936237	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.818000	0.86416	2.894000	0.99253	0.655000	0.94253	TCC		0.483	KDM4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019960.1	NM_014663		35	27	0	0	0	1	0	35	27					T	44163650	C	T	44163650	3	4	287	1	0	0	0	0	1	0	0	0	8128	855	30	3	2877	3	KDM4A	1	44163650	Missense_Mutation	SNP	C	TCGA-J9-A52D-01A-11D-A29Q-08	2688397	44163650	205086971	2	13831											
CFH	3075	broad.mit.edu	37	chr1	196645165	196645165	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	accgtgaatgtgacacagatGgatggaccaatgatattcct	13	10	10	8	1	0	4	0	3	0	1	1	6	1	6	3	2	0	0	3	2	3	2	rs373339058		TCGA-J9-A52D-01A-11D-A29Q-08	TCGA-J9-A52D-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e63c8077-ee5f-4ff5-a416-8f73b2675957	14d30fae-711c-4b77-a452-4fd8eb1c039c	g.chr1:196645165G>A	ENST00000359637.2	+	4	459	c.397G>A	c.(397-399)Gga>Aga	p.G133R	CFH_ENST00000439155.2_Missense_Mutation_p.G133R|CFH_ENST00000367429.4_Missense_Mutation_p.G133R			P08603	CFAH_HUMAN	complement factor H	197	Sushi 2. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	heparan sulfate proteoglycan binding (GO:0043395)|heparin binding (GO:0008201)	p.G133R(1)		NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						TGACACAGATGGATGGACCAA	0.289																																						ENST00000367429.4																			1	Substitution - Missense(1)	p.G133R(1)	large_intestine(1)	NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						c.(397-399)Gga>Aga		complement factor H		G	ARG/GLY,ARG/GLY	0,4406		0,0,2203	195	180	185		397,397	5.5	1	1		185	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	CFH	NM_000186.3,NM_001014975.2	125,125	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging	133/1232,133/450	196645165	1,13005	2203	4300	6503	SO:0001583	missense	3075				complement activation, alternative pathway	extracellular space		g.chr1:196645165G>A	Y00716	CCDS1385.1	1q32	2014-09-17	2004-08-09	2004-08-12	ENSG00000000971	ENSG00000000971		"Complement system"	4883	protein-coding gene	gene with protein product	"beta-1H", "H factor 2 (complement)", "age-related maculopathy susceptibility 1"	134370	"H factor 1 (complement)"	HF, HF1, HF2		2889480, 2963625	Standard	NM_000186		Approved	HUS, FHL1, ARMS1, ARMD4	uc001gtj.4	P08603	OTTHUMG00000035607	ENST00000359637.2:c.397G>A	1.37:g.196645165G>A	ENSP00000352658:p.Gly133Arg					CFH_ENST00000439155.2_Missense_Mutation_p.G133R|CFH_ENST00000359637.2_Missense_Mutation_p.G133R	p.G133R	NM_000186.3	NP_000177.2	P08603	CFAH_HUMAN			4	637	+			133			Sushi 2.		A5PL14|P78435|Q14570|Q2TAZ5|Q38G77|Q5TFM3|Q8N708|Q9NU86	Missense_Mutation	SNP	ENST00000359637.2	37	c.397G>A		.	.	.	.	.	.	.	.	.	.	G	21.2	4.110358	0.77210	0.0	1.16E-4	ENSG00000000971	ENST00000367429;ENST00000439155;ENST00000391986;ENST00000359637	D;D;D	0.82344	-1.6;-1.6;-1.6	5.5	5.5	0.81552	Complement control module (2);Sushi/SCR/CCP (3);	.	.	.	.	D	0.91358	0.7274	M	0.88775	2.98	0.41007	D	0.984971	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;0.999;1.0;0.997	D	0.89855	0.4012	9	0.17369	T	0.5	.	14.9068	0.70727	0.0:0.0:1.0:0.0	.	133;133;133;133	Q5TFM2;P08603-2;P08603;F8WDX4	.;.;CFAH_HUMAN;.	R	133	ENSP00000356399:G133R;ENSP00000402656:G133R;ENSP00000352658:G133R	ENSP00000352658:G133R	G	+	1	0	CFH	194911788	1.000000	0.71417	1.000000	0.80357	0.915000	0.54546	6.152000	0.71812	2.585000	0.87301	0.462000	0.41574	GGA		0.289	CFH-002	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000087502.1	NM_000186		27	34	0	0	0	1	0	27	34					A	196645165	G	A	196645165	3	1	287	1	0	0	0	0	1	0	0	0	3283	1349	47	3	411	3	CFH	1	196645165	Missense_Mutation	SNP	G	TCGA-J9-A52D-01A-11D-A29Q-08	152481515	196645165	52605456	3	13832											
NBAS	51594	broad.mit.edu	37	chr2	15432834	15432834	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggtcttcaggccaggcttcGtgctcatgtcgagtcacatg	7	11	12	11	2	4	0	3	0	1	0	6	1	4	0	1	3	1	2	1	3	0	2	rs371291813		TCGA-J9-A52D-01A-11D-A29Q-08	TCGA-J9-A52D-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e63c8077-ee5f-4ff5-a416-8f73b2675957	14d30fae-711c-4b77-a452-4fd8eb1c039c	g.chr2:15432834G>A	ENST00000281513.5	-	41	4879	c.4854C>T	c.(4852-4854)caC>caT	p.H1618H	NBAS_ENST00000441750.1_Silent_p.H1498H	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN	neuroblastoma amplified sequence	1618					negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:2000623)|nuclear-transcribed mRNA catabolic process (GO:0000956)	cytoplasm (GO:0005737)|membrane (GO:0016020)				NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						GCCAGGCTTCGTGCTCATGTC	0.463																																						ENST00000281513.5																			0				NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						c.(4852-4854)caC>caT		neuroblastoma amplified sequence		G		0,4406		0,0,2203	116	101	106		4854	-11.7	0	2		106	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	NBAS	NM_015909.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		1618/2372	15432834	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	51594							g.chr2:15432834G>A	BC051792	CCDS1685.1	2p24.3	2009-02-23			ENSG00000151779	ENSG00000151779			15625	protein-coding gene	gene with protein product		608025				9926938, 12706883	Standard	NM_015909		Approved	NAG	uc002rcc.2	A2RRP1	OTTHUMG00000121153	ENST00000281513.5:c.4854C>T	2.37:g.15432834G>A						NBAS_ENST00000441750.1_Silent_p.H1498H	p.H1618H	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN			41	4879	-			1618					O95790|Q2VPJ7|Q53TK6|Q86V39|Q8NFY8|Q9Y3W5	Silent	SNP	ENST00000281513.5	37	c.4854C>T	CCDS1685.1	.	.	.	.	.	.	.	.	.	.	G	0.013	-1.609704	0.00842	0.0	1.16E-4	ENSG00000151779	ENST00000442506	.	.	.	5.84	-11.7	0.00046	.	.	.	.	.	T	0.24967	0.0606	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.54275	-0.8318	4	.	.	.	.	8.8841	0.35392	0.458:0.2953:0.1972:0.0496	.	.	.	.	M	666	.	.	T	-	2	0	NBAS	15350285	0.000000	0.05858	0.000000	0.03702	0.143000	0.21401	-5.181000	0.00144	-6.743000	0.00002	-2.426000	0.00216	ACG		0.463	NBAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241638.1	NM_015909		26	37	0	0	0	1	0	26	37					A	15432834	G	A	15432834	2	1	287	1	0	0	0	0	0	0	0	1	10186	1136	40	1		1	NBAS	2	15432834	Silent	SNP	G	TCGA-J9-A52D-01A-11D-A29Q-08		15432834	227766539	4	13833											
SPTBN1	6711	broad.mit.edu	37	chr2	54882330	54882330	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccctgttggcgagaaaacaCtatgcatctgaggaggtagg	11	9	13	8	1	1	2	0	1	1	1	2	4	2	3	1	4	2	3	1	4	4	3			TCGA-J9-A52D-01A-11D-A29Q-08	TCGA-J9-A52D-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e63c8077-ee5f-4ff5-a416-8f73b2675957	14d30fae-711c-4b77-a452-4fd8eb1c039c	g.chr2:54882330C>G	ENST00000356805.4	+	28	6227	c.5946C>G	c.(5944-5946)caC>caG	p.H1982Q	SPTBN1_ENST00000333896.5_Missense_Mutation_p.H1969Q	NM_003128.2	NP_003119.2	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1	1982	Interaction with ANK2.				actin filament capping (GO:0051693)|axon guidance (GO:0007411)|Golgi to plasma membrane protein transport (GO:0043001)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|plasma membrane organization (GO:0007009)|protein targeting to plasma membrane (GO:0072661)	axolemma (GO:0030673)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|protein complex (GO:0043234)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin binding (GO:0003779)|ankyrin binding (GO:0030506)|phospholipid binding (GO:0005543)|poly(A) RNA binding (GO:0044822)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	82			Lung(47;0.24)			CGAGAAAACACTATGCATCTG	0.403																																						ENST00000333896.5																			0				NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	82						c.(5905-5907)caC>caG		spectrin, beta, non-erythrocytic 1							163	125	138					2																	54882330		2203	4300	6503	SO:0001583	missense	0				actin filament capping|axon guidance	cytosol|nucleolus|plasma membrane|sarcomere|spectrin	actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton	g.chr2:54882330C>G		CCDS33198.1, CCDS33199.1	2p21	2013-01-10			ENSG00000115306	ENSG00000115306		"Pleckstrin homology (PH) domain containing"	11275	protein-coding gene	gene with protein product		182790					Standard	NM_003128		Approved		uc002rxu.3	Q01082	OTTHUMG00000133746	ENST00000356805.4:c.5946C>G	2.37:g.54882330C>G	ENSP00000349259:p.His1982Gln					SPTBN1_ENST00000356805.4_Missense_Mutation_p.H1982Q	p.H1969Q	NM_178313.2	NP_842565.2	Q01082	SPTB2_HUMAN	Lung(47;0.24)		27	6292	+			1982			Interaction with ANK2.		B2RP63|O60837|Q16057|Q53R99|Q59ER3|Q8IX99	Missense_Mutation	SNP	ENST00000356805.4	37	c.5907C>G	CCDS33198.1	.	.	.	.	.	.	.	.	.	.	C	29.4	4.999760	0.93227	.	.	ENSG00000115306	ENST00000356805;ENST00000333896	T;T	0.54675	0.56;0.56	5.48	5.48	0.80851	.	0.052921	0.85682	D	0.000000	T	0.71550	0.3353	M	0.88979	2.995	0.80722	D	1	P;D;P	0.54601	0.94;0.967;0.951	P;B;P	0.51355	0.451;0.35;0.667	T	0.77996	-0.2377	10	0.72032	D	0.01	.	19.7157	0.96119	0.0:1.0:0.0:0.0	.	1982;1969;1982	Q01082-2;Q01082-3;Q01082	.;.;SPTB2_HUMAN	Q	1982;1969	ENSP00000349259:H1982Q;ENSP00000334156:H1969Q	ENSP00000334156:H1969Q	H	+	3	2	SPTBN1	54735834	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.729000	0.84864	2.749000	0.94314	0.655000	0.94253	CAC		0.403	SPTBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258115.3			13	20	0	0	0	1	0	13	20					G	54882330	C	G	54882330	3	3	287	1	0	0	0	0	1	0	0	0	15118	564	20	5	6165	5	SPTBN1	2	54882330	Missense_Mutation	SNP	C	TCGA-J9-A52D-01A-11D-A29Q-08	39449496	54882330	188317043	5	13834											
CTDSP1	58190	broad.mit.edu	37	chr2	219269079	219269081	+	In_Frame_Del	DEL	CTT	CTT	-																															gagctccacgacctcctcccCttcttcgagcaactcagccg																										TCGA-J9-A52D-01A-11D-A29Q-08	TCGA-J9-A52D-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e63c8077-ee5f-4ff5-a416-8f73b2675957	14d30fae-711c-4b77-a452-4fd8eb1c039c	g.chr2:219269079_219269081delCTT	ENST00000273062.2	+	7	1053_1055	c.717_719delCTT	c.(715-720)cccttc>ccc	p.F241del	CTDSP1_ENST00000488627.1_3'UTR|MIR26B_ENST00000362251.2_RNA|CTDSP1_ENST00000443891.1_In_Frame_Del_p.F240del	NM_021198.2|NM_182642.2	NP_067021.1|NP_872580.1	Q9GZU7	CTDS1_HUMAN	CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) small phosphatase 1	241	FCP1 homology. {ECO:0000255|PROSITE- ProRule:PRU00336}.				negative regulation of neurogenesis (GO:0050768)|negative regulation of neuron differentiation (GO:0045665)|protein dephosphorylation (GO:0006470)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	CTD phosphatase activity (GO:0008420)|metal ion binding (GO:0046872)			NS(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	8		Renal(207;0.0915)		Epithelial(149;9.96e-07)|all cancers(144;0.00017)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		ACCTCCTCCCCTTCTTCGAGCAA	0.626																																						ENST00000273062.2																			0				NS(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	8						c.(715-720)ccc>cc		CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) small phosphatase 1																																				SO:0001651	inframe_deletion	58190				protein dephosphorylation|regulation of transcription from RNA polymerase II promoter	nucleus	CTD phosphatase activity|metal ion binding|protein binding	g.chr2:219269079_219269081delCTT	AF229162	CCDS2416.1, CCDS56166.1	2q35	2010-06-21			ENSG00000144579	ENSG00000144579		"Serine/threonine phosphatases / CTD aspartate-based phosphatases"	21614	protein-coding gene	gene with protein product	"nuclear LIM interactor-interacting factor", "small CTD phosphatase 1"	605323				11950066, 12721286	Standard	NM_021198		Approved	NLIIF, SCP1	uc021vwv.1	Q9GZU7	OTTHUMG00000133109	ENST00000273062.2:c.717_719delCTT	2.37:g.219269082_219269084delCTT	ENSP00000273062:p.Phe241del					CTDSP1_ENST00000443891.1_In_Frame_Del_p.PF238del|CTDSP1_ENST00000488627.1_3'UTR	p.PF239del	NM_021198.2|NM_182642.2	NP_067021.1|NP_872580.1	Q9GZU7	CTDS1_HUMAN		Epithelial(149;9.96e-07)|all cancers(144;0.00017)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	7	1053_1055	+		Renal(207;0.0915)	239			FCP1 homology.		C9IYG0|Q7Z5Q3|Q7Z5Q4	In_Frame_Del	DEL	ENST00000273062.2	37	c.717_719delCTT	CCDS2416.1																																																																																				0.626	CTDSP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256774.1	NM_182642, NM_021198		66	103						66	103	---	---	---	---	-	219269081	CTT	-	219269079	7	5	287	1	0	1	0	1	0	0	0	0	4003	668	24	0	743	0	CTDSP1	2	219269079	In_Frame_Del	DEL	CTT	TCGA-J9-A52D-01A-11D-A29Q-08	164386749	219269079	23930294	6	13835											
TLL1	7092	broad.mit.edu	37	chr4	167020676	167020676	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cttggtcgattctgtggatcCggggtaaatataccaccaac	10	11	10	10	2	1	0	0	0	1	0	3	2	2	1	3	4	2	1	3	4	5	5	rs115401178	byFrequency	TCGA-J9-A52D-01A-11D-A29Q-08	TCGA-J9-A52D-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e63c8077-ee5f-4ff5-a416-8f73b2675957	14d30fae-711c-4b77-a452-4fd8eb1c039c	g.chr4:167020676C>T	ENST00000061240.2	+	20	3551	c.2904C>T	c.(2902-2904)tcC>tcT	p.S968S	TLL1_ENST00000507499.1_Silent_p.S991S	NM_012464.4	NP_036596.3	O43897	TLL1_HUMAN	tolloid-like 1	968	CUB 5. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cell differentiation (GO:0030154)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)		GBM - Glioblastoma multiforme(119;0.103)		TCTGTGGATCCGGGGTAAATA	0.423													C|||	6	0.00119808	0	0	5008	,	,		16277	0.006		0	False		,,,				2504	0					ENST00000061240.2																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	77						c.(2902-2904)tcC>tcT		tolloid-like 1							152	158	156					4																	167020676		2203	4300	6503	SO:0001819	synonymous_variant	7092				cell differentiation|proteolysis|skeletal system development	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding	g.chr4:167020676C>T	AF282732	CCDS3811.1, CCDS56342.1	4q32-q33	2008-07-29			ENSG00000038295	ENSG00000038295			11843	protein-coding gene	gene with protein product		606742				10516436	Standard	NM_012464		Approved		uc003irh.2	O43897	OTTHUMG00000161112	ENST00000061240.2:c.2904C>T	4.37:g.167020676C>T						TLL1_ENST00000507499.1_Silent_p.S991S	p.S968S	NM_012464.4	NP_036596.3	O43897	TLL1_HUMAN		GBM - Glioblastoma multiforme(119;0.103)	20	3551	+	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)	968			CUB 5.		B2RMU2|Q96AN3|Q9NQS4	Silent	SNP	ENST00000061240.2	37	c.2904C>T	CCDS3811.1																																																																																				0.423	TLL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363821.1			64	64	0	0	0	1	0	64	64					T	167020676	C	T	167020676	2	4	287	1	0	0	0	0	0	0	0	1	15942	639	23	2		2	TLL1	4	167020676	Silent	SNP	C	TCGA-J9-A52D-01A-11D-A29Q-08		167020676	24133600	7	13836											
CDH12	1010	broad.mit.edu	37	chr5	21975394	21975394	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctaggctccttattgcatgaAtgtcccctgtggtttcatca	7	15	8	11	0	2	1	2	1	0	0	4	1	4	1	3	2	1	3	3	2	3	4			TCGA-J9-A52D-01A-11D-A29Q-08	TCGA-J9-A52D-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e63c8077-ee5f-4ff5-a416-8f73b2675957	14d30fae-711c-4b77-a452-4fd8eb1c039c	g.chr5:21975394A>G	ENST00000382254.1	-	6	1418	c.332T>C	c.(331-333)aTt>aCt	p.I111T	CDH12_ENST00000504376.2_Missense_Mutation_p.I111T|CDH12_ENST00000522262.1_Missense_Mutation_p.I111T	NM_004061.3	NP_004052.2	P55289	CAD12_HUMAN	cadherin 12, type 2 (N-cadherin 2)	111	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						TATTGCATGAATGTCCCCTGT	0.493										HNSCC(59;0.17)																												ENST00000382254.1																			0				NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						c.(331-333)aTt>aCt		cadherin 12, type 2 (N-cadherin 2)							64	63	64					5																	21975394		2044	3866	5910	SO:0001583	missense	1010				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:21975394A>G	L33477	CCDS3890.1	5p14.3	2010-01-26			ENSG00000154162	ENSG00000154162		"Cadherins / Major cadherins"	1751	protein-coding gene	gene with protein product		600562				7731968	Standard	NM_004061		Approved	Br-cadherin, CDHB	uc003jgk.2	P55289	OTTHUMG00000090591	ENST00000382254.1:c.332T>C	5.37:g.21975394A>G	ENSP00000371689:p.Ile111Thr	HNSCC(59;0.17)				CDH12_ENST00000504376.2_Missense_Mutation_p.I111T|CDH12_ENST00000522262.1_Missense_Mutation_p.I111T	p.I111T	NM_004061.3	NP_004052.2	P55289	CAD12_HUMAN			6	1418	-			111			Cadherin 1.		B2RBT1|B7Z2U6|Q86UD2	Missense_Mutation	SNP	ENST00000382254.1	37	c.332T>C	CCDS3890.1	.	.	.	.	.	.	.	.	.	.	A	19.65	3.867256	0.72065	.	.	ENSG00000154162	ENST00000504376;ENST00000382254;ENST00000522262	T;T;T	0.61510	0.1;0.1;0.1	5.16	5.16	0.70880	Cadherin (5);Cadherin-like (1);	0.000000	0.85682	D	0.000000	D	0.85622	0.5739	H	0.98786	4.33	0.58432	D	0.999996	D;D	0.76494	0.999;0.997	D;D	0.97110	0.998;1.0	D	0.91517	0.5231	10	0.87932	D	0	.	14.9747	0.71261	1.0:0.0:0.0:0.0	.	111;111	B7Z2U6;P55289	.;CAD12_HUMAN	T	111	ENSP00000423577:I111T;ENSP00000371689:I111T;ENSP00000428786:I111T	ENSP00000371689:I111T	I	-	2	0	CDH12	22011151	1.000000	0.71417	1.000000	0.80357	0.831000	0.47069	8.850000	0.92190	1.954000	0.56735	0.397000	0.26171	ATT		0.493	CDH12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207139.1	NM_004061		8	80	0	0	0	1	0	8	80					G	21975394	A	G	21975394	3	3	287	1	0	0	0	0	1	0	0	0	3098	101	4	4	2092	4	CDH12	5	21975394	Missense_Mutation	SNP	A	TCGA-J9-A52D-01A-11D-A29Q-08		21975394	158939866	8	13837											
RXFP3	51289	broad.mit.edu	37	chr5	33937288	33937288	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaacgctcttgacttcaaatGgcccttcggcaaggccatgt	9	10	10	12	2	2	1	1	1	1	0	3	2	2	1	2	3	1	2	2	3	3	3			TCGA-J9-A52D-01A-11D-A29Q-08	TCGA-J9-A52D-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e63c8077-ee5f-4ff5-a416-8f73b2675957	14d30fae-711c-4b77-a452-4fd8eb1c039c	g.chr5:33937288G>A	ENST00000330120.3	+	1	798	c.443G>A	c.(442-444)tGg>tAg	p.W148*		NM_016568.3	NP_057652.1	Q9NSD7	RL3R1_HUMAN	relaxin/insulin-like family peptide receptor 3	148					G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cytokinesis (GO:0032467)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled peptide receptor activity (GO:0008528)|G-protein coupled receptor activity (GO:0004930)			endometrium(4)|large_intestine(9)|lung(24)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)	42						GACTTCAAATGGCCCTTCGGC	0.552																																						ENST00000330120.3																			0				endometrium(4)|large_intestine(9)|lung(24)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)	42						c.(442-444)tGg>tAg		relaxin/insulin-like family peptide receptor 3							137	122	127					5																	33937288		2203	4300	6503	SO:0001587	stop_gained	51289					integral to plasma membrane	N-formyl peptide receptor activity	g.chr5:33937288G>A	D88437	CCDS3900.1	5p15.1-p14	2012-08-08	2006-05-09	2006-03-15	ENSG00000182631	ENSG00000182631		"GPCR / Class A : Relaxin family peptide receptors"	24883	protein-coding gene	gene with protein product		609445	"relaxin 3 receptor 1", "relaxin family peptide receptor 3"	RLN3R1		15956688, 16507880	Standard	NM_016568		Approved	SALPR, GPCR135, RXFPR3	uc003jic.2	Q9NSD7	OTTHUMG00000090685	ENST00000330120.3:c.443G>A	5.37:g.33937288G>A	ENSP00000328708:p.Trp148*						p.W148*	NM_016568.3	NP_057652.1	Q9NSD7	RL3R1_HUMAN			1	798	+			148					Q14DA5	Nonsense_Mutation	SNP	ENST00000330120.3	37	c.443G>A	CCDS3900.1	.	.	.	.	.	.	.	.	.	.	G	40	8.317153	0.98757	.	.	ENSG00000182631	ENST00000330120	.	.	.	5.72	5.72	0.89469	.	0.058165	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-21.3074	19.8764	0.96873	0.0:0.0:1.0:0.0	.	.	.	.	X	148	.	ENSP00000328708:W148X	W	+	2	0	RXFP3	33973045	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	9.816000	0.99350	2.700000	0.92200	0.650000	0.86243	TGG		0.552	RXFP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207369.1	NM_016568		63	63	0	0	0	1	0	63	63					A	33937288	G	A	33937288	4	1	287	1	0	0	0	0	0	1	0	0	13761	1357	47	3	445	3	RXFP3	5	33937288	Nonsense_Mutation	SNP	G	TCGA-J9-A52D-01A-11D-A29Q-08	11961894	33937288	146977972	9	13838											
CDC20B	166979	broad.mit.edu	37	chr5	54442517	54442518	+	Frame_Shift_Ins	INS	-	-	TC																															atccggaagcttctgggaggINStaggtggttgactgctcttc																										TCGA-J9-A52D-01A-11D-A29Q-08	TCGA-J9-A52D-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e63c8077-ee5f-4ff5-a416-8f73b2675957	14d30fae-711c-4b77-a452-4fd8eb1c039c	g.chr5:54442517_54442518insTC	ENST00000381375.2	-	3	438_439	c.293_294insGA	c.(292-294)tacfs	p.Y98fs	CDC20B_ENST00000331730.3_Frame_Shift_Ins_p.Y77fs|CDC20B_ENST00000296733.1_Frame_Shift_Ins_p.Y98fs|CDC20B_ENST00000322374.6_Frame_Shift_Ins_p.Y98fs|CDC20B_ENST00000334206.5_Frame_Shift_Ins_p.Y98fs			Q86Y33	CD20B_HUMAN	cell division cycle 20B	98										kidney(1)|large_intestine(5)|lung(7)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	19		Lung NSC(810;0.000744)|Breast(144;0.159)|Prostate(74;0.194)	LUSC - Lung squamous cell carcinoma(15;0.225)			CTTCTGGGAGGTAGGTGGTTGA	0.55											OREG0016610	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000334206.5																			0				kidney(1)|large_intestine(5)|lung(7)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	19						c.(292-294)tctfs		cell division cycle 20B																																				SO:0001589	frameshift_variant	166979							g.chr5:54442517_54442518insTC	AB086378	CCDS3966.1, CCDS47207.1, CCDS54852.1	5q11.2	2013-01-17	2013-01-17		ENSG00000164287	ENSG00000164287		"WD repeat domain containing"	24222	protein-coding gene	gene with protein product			"CDC20 cell division cycle 20 homolog B (S. cerevisiae)", "cell division cycle 20 homolog B (S. cerevisiae)"				Standard	NM_152623		Approved	FLJ37927	uc003jpo.2	Q86Y33	OTTHUMG00000131185	ENST00000381375.2:c.293_294insGA	5.37:g.54442517_54442518insTC	ENSP00000370781:p.Tyr98fs		OREG0016610	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1000	CDC20B_ENST00000296733.1_Frame_Shift_Ins_p.S98fs|CDC20B_ENST00000381375.2_Frame_Shift_Ins_p.S98fs|CDC20B_ENST00000331730.3_Frame_Shift_Ins_p.S77fs|CDC20B_ENST00000322374.6_Frame_Shift_Ins_p.S98fs	p.S98fs			Q86Y33	CD20B_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.225)		3	469_470	-		Lung NSC(810;0.000744)|Breast(144;0.159)|Prostate(74;0.194)	98					B7WNV8|B9EGL8|C9J6X8|C9JHE9|C9JKL5|Q86Y31|Q86Y32|Q8IUZ8|Q8N1S1|Q8NG56	Frame_Shift_Ins	INS	ENST00000381375.2	37	c.293_294insGA	CCDS54852.1																																																																																				0.55	CDC20B-004	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000369715.1	NM_152623		33	45						33	45	---	---	---	---	TC	54442518	-	TC	54442517	7	5	287	1	0	1	1	0	0	0	0	0	3060	1256	44	0	1305	0	CDC20B	5	54442517	Frame_Shift_Ins	INS	-	TCGA-J9-A52D-01A-11D-A29Q-08	20505229	54442517	126472743	10	13839											
POC5	134359	broad.mit.edu	37	chr5	74973609	74973609	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtggactcaccactgtgactGgatgatgtttttccacaaca	10	12	9	10	0	1	2	1	2	0	0	2	4	2	4	2	2	1	1	2	2	1	2			TCGA-J9-A52D-01A-11D-A29Q-08	TCGA-J9-A52D-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e63c8077-ee5f-4ff5-a416-8f73b2675957	14d30fae-711c-4b77-a452-4fd8eb1c039c	g.chr5:74973609G>A	ENST00000428202.2	-	11	1763	c.1574C>T	c.(1573-1575)cCa>cTa	p.P525L	POC5_ENST00000510798.1_Intron|POC5_ENST00000380475.2_Intron|POC5_ENST00000446329.2_Missense_Mutation_p.P500L|POC5_ENST00000514838.2_Missense_Mutation_p.P497L	NM_001099271.1	NP_001092741.1	Q8NA72	POC5_HUMAN	POC5 centriolar protein	525					cell cycle (GO:0007049)	centrosome (GO:0005813)|cytoplasm (GO:0005737)				breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						CACTGTGACTGGATGATGTTT	0.373																																						ENST00000428202.2																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						c.(1573-1575)cCa>cTa		POC5 centriolar protein							106	96	99					5																	74973609		1878	4105	5983	SO:0001583	missense	134359				cell cycle	centriole		g.chr5:74973609G>A	AK093098	CCDS47236.1, CCDS47237.1	5q13.3	2013-08-05	2013-08-05	2010-03-26	ENSG00000152359	ENSG00000152359			26658	protein-coding gene	gene with protein product			"chromosome 5 open reading frame 37", "POC5 centriolar protein homolog (Chlamydomonas)"	C5orf37		19349582	Standard	NM_152408		Approved	FLJ35779, MGC120442, MGC120443, MGC120444, hPOC5	uc003keh.4	Q8NA72	OTTHUMG00000162487	ENST00000428202.2:c.1574C>T	5.37:g.74973609G>A	ENSP00000410216:p.Pro525Leu					POC5_ENST00000380475.2_Intron|POC5_ENST00000446329.2_Missense_Mutation_p.P500L|POC5_ENST00000510798.1_Intron|POC5_ENST00000514838.2_Missense_Mutation_p.P497L	p.P525L	NM_001099271.1	NP_001092741.1	Q8NA72	POC5_HUMAN			11	1763	-			525					B4DJG7|Q494X7|Q494X9|Q6P085	Missense_Mutation	SNP	ENST00000428202.2	37	c.1574C>T	CCDS47236.1	.	.	.	.	.	.	.	.	.	.	G	25.4	4.635254	0.87760	.	.	ENSG00000152359	ENST00000428202;ENST00000514838;ENST00000446329	T;T;T	0.75589	-0.75;-0.95;-0.85	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	D	0.87485	0.6189	M	0.79475	2.455	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.87713	0.2568	10	0.87932	D	0	-19.87	20.3213	0.98679	0.0:0.0:1.0:0.0	.	525;500	Q8NA72;Q8NA72-3	POC5_HUMAN;.	L	525;497;500	ENSP00000410216:P525L;ENSP00000420971:P497L;ENSP00000399481:P500L	ENSP00000410216:P525L	P	-	2	0	POC5	75009365	1.000000	0.71417	0.997000	0.53966	0.996000	0.88848	7.337000	0.79256	2.810000	0.96702	0.650000	0.86243	CCA		0.373	POC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369124.1	NM_152408		4	38	0	0	0	1	0	4	38					A	74973609	G	A	74973609	3	1	287	1	0	0	0	0	1	0	0	0	12177	1348	47	3	161	3	POC5	5	74973609	Missense_Mutation	SNP	G	TCGA-J9-A52D-01A-11D-A29Q-08	20531092	74973609	105941651	11	13840											
CHD1	1105	broad.mit.edu	37	chr5	98229277	98229277	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcggtgtgcttcatcaacacCtataaatgcccaatttagac	12	12	6	11	1	2	1	2	0	0	1	3	1	2	1	2	1	3	1	2	1	6	5			TCGA-J9-A52D-01A-11D-A29Q-08	TCGA-J9-A52D-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e63c8077-ee5f-4ff5-a416-8f73b2675957	14d30fae-711c-4b77-a452-4fd8eb1c039c	g.chr5:98229277C>G	ENST00000284049.3	-	13	1983	c.1834G>C	c.(1834-1836)Ggt>Cgt	p.G612R		NM_001270.2	NP_001261.2	O14646	CHD1_HUMAN	chromodomain helicase DNA binding protein 1	612	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|methylated histone binding (GO:0035064)			NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	49		all_cancers(142;5.36e-08)|all_epithelial(76;6.97e-11)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|all_lung(232;0.00119)|Ovarian(225;0.024)|Colorectal(57;0.117)		COAD - Colon adenocarcinoma(37;0.0717)	Epirubicin(DB00445)	TCATCAACACCTATAAATGCC	0.333																																						ENST00000284049.3																			0				NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	49						c.(1834-1836)Ggt>Cgt		chromodomain helicase DNA binding protein 1	Epirubicin(DB00445)						88	98	95					5																	98229277		2203	4300	6503	SO:0001583	missense	1105				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|methylated histone residue binding	g.chr5:98229277C>G	AF006513	CCDS34204.1	5q15-q21	2008-07-18			ENSG00000153922	ENSG00000153922			1915	protein-coding gene	gene with protein product		602118				8460153, 9326634	Standard	XM_005271866		Approved		uc003knf.3	O14646	OTTHUMG00000162744	ENST00000284049.3:c.1834G>C	5.37:g.98229277C>G	ENSP00000284049:p.Gly612Arg						p.G612R	NM_001270.2	NP_001261.2	O14646	CHD1_HUMAN		COAD - Colon adenocarcinoma(37;0.0717)	13	1983	-		all_cancers(142;5.36e-08)|all_epithelial(76;6.97e-11)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|all_lung(232;0.00119)|Ovarian(225;0.024)|Colorectal(57;0.117)	612			Helicase ATP-binding.		Q17RZ3	Missense_Mutation	SNP	ENST00000284049.3	37	c.1834G>C	CCDS34204.1	.	.	.	.	.	.	.	.	.	.	C	26.8	4.769696	0.90020	.	.	ENSG00000153922	ENST00000284049	D	0.93307	-3.2	5.54	5.54	0.83059	DEAD-like helicase (2);SNF2-related (1);	0.000000	0.34088	U	0.004277	D	0.92635	0.7660	N	0.08118	0	0.80722	D	1	D	0.69078	0.997	D	0.67725	0.953	D	0.94276	0.7515	10	0.56958	D	0.05	.	19.4966	0.95075	0.0:1.0:0.0:0.0	.	612	O14646	CHD1_HUMAN	R	612	ENSP00000284049:G612R	ENSP00000284049:G612R	G	-	1	0	CHD1	98257177	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.792000	0.85828	2.616000	0.88540	0.650000	0.86243	GGT		0.333	CHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370295.1	NM_001270		45	5	0	0	0	1	0	45	5					G	98229277	C	G	98229277	3	3	287	1	0	0	0	0	1	0	0	0	3323	681	24	5	3390	5	CHD1	5	98229277	Missense_Mutation	SNP	C	TCGA-J9-A52D-01A-11D-A29Q-08	23255668	98229277	82685983	12	13841											
MYOT	9499	broad.mit.edu	37	chr5	137219176	137219176	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtctgagaagggtcttcattCactcatctttgaagtagtca	10	14	9	8	0	7	2	4	2	3	1	7	3	7	2	0	1	0	1	0	1	3	4			TCGA-J9-A52D-01A-11D-A29Q-08	TCGA-J9-A52D-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e63c8077-ee5f-4ff5-a416-8f73b2675957	14d30fae-711c-4b77-a452-4fd8eb1c039c	g.chr5:137219176C>T	ENST00000239926.4	+	7	1294	c.920C>T	c.(919-921)tCa>tTa	p.S307L	MYOT_ENST00000421631.2_Missense_Mutation_p.S123L|RP11-381K20.2_ENST00000508281.2_RNA|RP11-381K20.2_ENST00000514616.1_RNA|MYOT_ENST00000509812.1_Intron|MYOT_ENST00000515645.1_Missense_Mutation_p.S192L	NM_006790.2	NP_006781	Q9UBF9	MYOTI_HUMAN	myotilin	307	Ig-like C2-type 1.|Necessary for interaction with ACTA1.|Necessary for interaction with FLNC.				muscle contraction (GO:0006936)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	structural constituent of muscle (GO:0008307)			cervix(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	23			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			GGTCTTCATTCACTCATCTTT	0.453																																						ENST00000239926.4																			0				cervix(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	23						c.(919-921)tCa>tTa		myotilin							122	113	116					5																	137219176		2203	4300	6503	SO:0001583	missense	9499				muscle contraction	actin cytoskeleton|sarcolemma|sarcomere	actin binding|structural constituent of muscle	g.chr5:137219176C>T	AF133820	CCDS4194.1, CCDS47268.1, CCDS75309.1	5q31.2	2014-09-17	2005-09-07	2005-09-07	ENSG00000120729	ENSG00000120729		"Immunoglobulin superfamily / I-set domain containing"	12399	protein-coding gene	gene with protein product		604103	"titin immunoglobulin domain protein (myotilin)", "limb-girdle muscular dystrophy 1A (autosomal dominant)"	TTID, LGMD1A, LGMD1		10486214, 10369880	Standard	NM_006790		Approved		uc003lbv.3	Q9UBF9	OTTHUMG00000129154	ENST00000239926.4:c.920C>T	5.37:g.137219176C>T	ENSP00000239926:p.Ser307Leu					MYOT_ENST00000509812.1_Intron|MYOT_ENST00000421631.2_Missense_Mutation_p.S123L|MYOT_ENST00000515645.1_Missense_Mutation_p.S192L|RP11-381K20.2_ENST00000508281.2_RNA|RP11-381K20.2_ENST00000514616.1_RNA	p.S307L	NM_006790.2	NP_006781.1	Q9UBF9	MYOTI_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)		7	1294	+			307			Ig-like C2-type 1.|Necessary for interaction with ACTA1.|Necessary for interaction with FLNC.		A0A4R6|B4DT79	Missense_Mutation	SNP	ENST00000239926.4	37	c.920C>T	CCDS4194.1	.	.	.	.	.	.	.	.	.	.	C	34	5.376074	0.95923	.	.	ENSG00000120729	ENST00000239926;ENST00000421631;ENST00000515645	T;T;T	0.68903	-0.36;-0.36;-0.36	5.08	5.08	0.68730	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.52532	D	0.000063	D	0.82328	0.5013	M	0.74546	2.27	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.84529	0.0632	10	0.87932	D	0	.	18.8467	0.92210	0.0:1.0:0.0:0.0	.	307	Q9UBF9	MYOTI_HUMAN	L	307;123;192	ENSP00000239926:S307L;ENSP00000391185:S123L;ENSP00000426281:S192L	ENSP00000239926:S307L	S	+	2	0	MYOT	137247075	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.776000	0.85560	2.497000	0.84241	0.655000	0.94253	TCA		0.453	MYOT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251219.2	NM_006790		31	55	0	0	0	1	0	31	55					T	137219176	C	T	137219176	3	4	287	1	0	0	0	0	1	0	0	0	10094	838	29	3	942	3	MYOT	5	137219176	Missense_Mutation	SNP	C	TCGA-J9-A52D-01A-11D-A29Q-08	38989899	137219176	43696084	13	13842											
TULP1	7287	broad.mit.edu	37	chr6	35480000	35480000	+	Frame_Shift_Del	DEL	G	G	-																															cccgtggggcagggggattcGggggcctccgtcctcttctt																										TCGA-J9-A52D-01A-11D-A29Q-08	TCGA-J9-A52D-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e63c8077-ee5f-4ff5-a416-8f73b2675957	14d30fae-711c-4b77-a452-4fd8eb1c039c	g.chr6:35480000delG	ENST00000229771.6	-	3	226	c.147delC	c.(145-147)cccfs	p.P49fs	TULP1_ENST00000322263.4_Frame_Shift_Del_p.P49fs	NM_003322.3	NP_003313.3	O00294	TULP1_HUMAN	tubby like protein 1	49					dendrite development (GO:0016358)|detection of light stimulus involved in visual perception (GO:0050908)|eye photoreceptor cell development (GO:0042462)|phagocytosis (GO:0006909)|photoreceptor cell maintenance (GO:0045494)|phototransduction (GO:0007602)|positive regulation of phagocytosis (GO:0050766)|retina development in camera-type eye (GO:0060041)|retina homeostasis (GO:0001895)|visual perception (GO:0007601)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|synapse (GO:0045202)	actin filament binding (GO:0051015)|G-protein coupled photoreceptor activity (GO:0008020)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	19						AGGGGGATTCGGGGGCCTCCG	0.721																																					GBM(55;1027 1091 11115 23439)	ENST00000229771.6																			0				central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	19						c.(145-147)ccfs		tubby like protein 1							3	4	4					6																	35480000		1879	3888	5767	SO:0001589	frameshift_variant	7287				dendrite development|eye photoreceptor cell development|phagocytosis|photoreceptor cell maintenance|positive regulation of phagocytosis	cell junction|cytoplasm|extracellular region|photoreceptor inner segment|photoreceptor outer segment|synapse	actin filament binding|phosphatidylinositol-4,5-bisphosphate binding	g.chr6:35480000delG	U82468	CCDS4807.1, CCDS75436.1	6p21.3	2014-01-28			ENSG00000112041	ENSG00000112041			12423	protein-coding gene	gene with protein product		602280		RP14		9096357, 9521870	Standard	NM_003322		Approved	TUBL1, LCA15	uc003okv.4	O00294	OTTHUMG00000014575	ENST00000229771.6:c.147delC	6.37:g.35480000delG	ENSP00000229771:p.Pro49fs					TULP1_ENST00000322263.4_Frame_Shift_Del_p.P49fs	p.P49fs	NM_003322.3	NP_003313.3	O00294	TULP1_HUMAN			3	226	-			49					O43536|Q5TGM5|Q8N571	Frame_Shift_Del	DEL	ENST00000229771.6	37	c.147delC	CCDS4807.1																																																																																				0.721	TULP1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040307.2			2	4						2	4	---	---	---	---	-	35480000	G	-	35480000	7	5	287	1	0	1	0	1	0	0	0	0	16770	1103	39	0	1533	0	TULP1	6	35480000	Frame_Shift_Del	DEL	G	TCGA-J9-A52D-01A-11D-A29Q-08		35480000	135635067	14	13843											
ELN	2006	broad.mit.edu	37	chr7	73475451	73475451	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tacctggagccctggctgccGctaaagcagccaaatatggt	10	8	11	12	1	0	0	0	0	0	0	0	1	0	1	4	3	5	3	4	3	5	3			TCGA-J9-A52D-01A-11D-A29Q-08	TCGA-J9-A52D-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e63c8077-ee5f-4ff5-a416-8f73b2675957	14d30fae-711c-4b77-a452-4fd8eb1c039c	g.chr7:73475451G>A	ENST00000252034.7	+	26	2167	c.1768G>A	c.(1768-1770)Gct>Act	p.A590T	ELN_ENST00000445912.1_Missense_Mutation_p.A590T|ELN_ENST00000380562.4_Missense_Mutation_p.A596T|CTB-51J22.1_ENST00000435932.1_RNA|ELN_ENST00000320399.6_Missense_Mutation_p.A623T|ELN_ENST00000380584.4_Missense_Mutation_p.A542T|ELN_ENST00000414324.1_Missense_Mutation_p.A566T|ELN_ENST00000380553.4_Missense_Mutation_p.A454T|ELN_ENST00000358929.4_Missense_Mutation_p.A658T|ELN_ENST00000429192.1_Missense_Mutation_p.A576T|ELN_ENST00000380575.4_Missense_Mutation_p.A561T|ELN_ENST00000380576.5_Missense_Mutation_p.A571T|ELN_ENST00000320492.7_Missense_Mutation_p.A509T|ELN_ENST00000458204.1_Missense_Mutation_p.A580T|ELN_ENST00000357036.5_Missense_Mutation_p.A595T	NM_000501.2|NM_001278915.1	NP_000492.2|NP_001265844.1	P15502	ELN_HUMAN	elastin	0	Ala-rich.				blood circulation (GO:0008015)|blood vessel remodeling (GO:0001974)|cell proliferation (GO:0008283)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|organ morphogenesis (GO:0009887)|regulation of actin filament polymerization (GO:0030833)|respiratory gaseous exchange (GO:0007585)|skeletal muscle tissue development (GO:0007519)|stress fiber assembly (GO:0043149)	elastic fiber (GO:0071953)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix binding (GO:0050840)|extracellular matrix constituent conferring elasticity (GO:0030023)|extracellular matrix structural constituent (GO:0005201)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(4)|pancreas(2)|prostate(1)|skin(2)|stomach(1)	32		Lung NSC(55;0.159)				CCTGGCTGCCGCTAAAGCAGC	0.592			T	PAX5	B-ALL		"Supravalvular Aortic Stenosis, Cutis laxa , Williams-Beuren Syndrome"																															ENST00000252034.7				Dom	yes		7	7q11.23	2006	T	elastin	yes	"Supravalvular Aortic Stenosis, Cutis laxa , Williams-Beuren Syndrome"	L	PAX5		B-ALL		0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(4)|pancreas(2)|prostate(1)|skin(2)|stomach(1)	32						c.(1768-1770)Gct>Act		elastin	Rofecoxib(DB00533)						68	65	66					7																	73475451		2203	4300	6503	SO:0001583	missense	2006				blood circulation|cell proliferation|organ morphogenesis|respiratory gaseous exchange	proteinaceous extracellular matrix	extracellular matrix constituent conferring elasticity|protein binding	g.chr7:73475451G>A		CCDS5562.2, CCDS43598.1, CCDS43599.1, CCDS47611.1, CCDS47612.1, CCDS64673.1, CCDS64674.1, CCDS64675.1, CCDS64676.1, CCDS64677.1, CCDS64678.1, CCDS75616.1, CCDS75617.1	7q11.1-q21.1	2008-08-01	2008-08-01		ENSG00000049540	ENSG00000049540			3327	protein-coding gene	gene with protein product	"tropoelastin", "supravalvular aortic stenosis", "Williams-Beuren syndrome"	130160				8096434	Standard	NM_001278939		Approved	WBS, WS, SVAS	uc003tzn.3	P15502	OTTHUMG00000150229	ENST00000252034.7:c.1768G>A	7.37:g.73475451G>A	ENSP00000252034:p.Ala590Thr					ELN_ENST00000320492.7_Missense_Mutation_p.A509T|ELN_ENST00000380575.4_Missense_Mutation_p.A561T|ELN_ENST00000380576.5_Missense_Mutation_p.A571T|ELN_ENST00000358929.4_Missense_Mutation_p.A658T|CTB-51J22.1_ENST00000435932.1_RNA|ELN_ENST00000414324.1_Missense_Mutation_p.A566T|ELN_ENST00000380553.4_Missense_Mutation_p.A454T|ELN_ENST00000380584.4_Missense_Mutation_p.A542T|ELN_ENST00000380562.4_Missense_Mutation_p.A596T|ELN_ENST00000429192.1_Missense_Mutation_p.A576T|ELN_ENST00000458204.1_Missense_Mutation_p.A580T|ELN_ENST00000357036.5_Missense_Mutation_p.A595T|ELN_ENST00000445912.1_Missense_Mutation_p.A590T|ELN_ENST00000320399.6_Missense_Mutation_p.A623T	p.A590T	NM_000501.2	NP_000492.2	P15502	ELN_HUMAN			26	2167	+		Lung NSC(55;0.159)	652			Ala-rich.		B3KTS6|O15336|O15337|Q14233|Q14234|Q14235|Q14238|Q6P0L4|Q6ZWJ6|Q75MU5|Q7Z316|Q7Z3F5|Q9UMF5	Missense_Mutation	SNP	ENST00000252034.7	37	c.1768G>A	CCDS5562.2	.	.	.	.	.	.	.	.	.	.	G	14.46	2.541999	0.45280	.	.	ENSG00000049540	ENST00000445912;ENST00000252034;ENST00000358929;ENST00000320492;ENST00000414324;ENST00000380562;ENST00000380575;ENST00000380584;ENST00000458204;ENST00000357036;ENST00000429192;ENST00000442462;ENST00000380553;ENST00000380576;ENST00000320399	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.38560	1.17;1.21;1.28;1.23;1.17;1.21;1.24;1.13;1.16;1.17;1.17;1.21;1.17;1.28	4.25	3.33	0.38152	.	.	.	.	.	T	0.25494	0.0620	.	.	.	0.24878	N	0.992241	P;P;P;P;P;P;P;P;P;P;P;P;P	0.50066	0.931;0.931;0.931;0.931;0.931;0.931;0.931;0.931;0.931;0.931;0.931;0.931;0.931	B;B;B;B;B;B;B;B;B;B;B;B;B	0.38921	0.285;0.285;0.285;0.285;0.285;0.285;0.285;0.285;0.285;0.285;0.285;0.285;0.285	T	0.03829	-1.1000	8	0.18710	T	0.47	-8.5681	9.1679	0.37063	0.0:0.0:0.7726:0.2274	.	590;509;566;580;596;561;576;595;571;454;501;542;590	E7ENM0;G5E950;G3V0G6;E7EN65;P15502-1;P15502-7;P15502-12;P15502-5;P15502-13;P15502-11;B3KRT8;P15502-8;P15502-2	.;.;.;.;.;.;.;.;.;.;.;.;.	T	590;590;658;509;566;596;561;542;580;595;576;529;454;571;623	ENSP00000389857:A590T;ENSP00000252034:A590T;ENSP00000351807:A658T;ENSP00000315607:A509T;ENSP00000392575:A566T;ENSP00000369936:A596T;ENSP00000369949:A561T;ENSP00000369958:A542T;ENSP00000403162:A580T;ENSP00000349540:A595T;ENSP00000391129:A576T;ENSP00000369926:A454T;ENSP00000369950:A571T;ENSP00000313565:A623T	ENSP00000252034:A590T	A	+	1	0	ELN	73113387	0.687000	0.27671	0.495000	0.27527	0.867000	0.49689	1.618000	0.36954	1.068000	0.40764	0.456000	0.33151	GCT		0.592	ELN-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000316913.1	NM_000501		47	44	0	0	0	1	0	47	44					A	73475451	G	A	73475451	3	1	287	1	0	0	0	0	1	0	0	0	5071	1087	38	1	1885	1	ELN	7	73475451	Missense_Mutation	SNP	G	TCGA-J9-A52D-01A-11D-A29Q-08		73475451	85663212	15	13844											
LRRN3	54674	broad.mit.edu	37	chr7	110764027	110764027	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	actgttttgcgtggacccacCtgaattccaaggtcagaatg	10	11	10	10	1	1	2	1	1	0	1	2	3	2	3	3	2	1	1	3	2	3	3			TCGA-J9-A52D-01A-11D-A29Q-08	TCGA-J9-A52D-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e63c8077-ee5f-4ff5-a416-8f73b2675957	14d30fae-711c-4b77-a452-4fd8eb1c039c	g.chr7:110764027C>T	ENST00000422987.3	+	2	2030	c.1199C>T	c.(1198-1200)cCt>cTt	p.P400L	IMMP2L_ENST00000447215.1_Intron|IMMP2L_ENST00000415362.1_Intron|IMMP2L_ENST00000331762.3_Intron|IMMP2L_ENST00000450877.1_Intron|LRRN3_ENST00000308478.5_Missense_Mutation_p.P400L|IMMP2L_ENST00000405709.2_Intron|LRRN3_ENST00000451085.1_Missense_Mutation_p.P400L|IMMP2L_ENST00000452895.1_Intron|IMMP2L_ENST00000489381.1_Intron|IMMP2L_ENST00000437687.1_Intron	NM_018334.4	NP_060804.3	Q9H3W5	LRRN3_HUMAN	leucine rich repeat neuronal 3	400	LRRCT.				positive regulation of protein phosphorylation (GO:0001934)	clathrin adaptor complex (GO:0030131)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.P399fs*16(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(15)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				UCEC - Uterine corpus endometrioid carcinoma (4;0.245)|LUSC - Lung squamous cell carcinoma(290;0.0715)|Lung(3;0.0864)|STAD - Stomach adenocarcinoma(3;0.125)		GTGGACCCACCTGAATTCCAA	0.443																																						ENST00000451085.1																			1	Deletion - Frameshift(1)	p.P399fs*16(1)	skin(1)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(15)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	55						c.(1198-1200)cCt>cTt		leucine rich repeat neuronal 3							114	98	104					7																	110764027		2203	4300	6503	SO:0001583	missense	54674					integral to membrane		g.chr7:110764027C>T	AB060967	CCDS5754.1	7q31.1	2013-02-11			ENSG00000173114	ENSG00000173114		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	17200	protein-coding gene	gene with protein product	"fibronectin type III, immunoglobulin and leucine rich repeat domains 5"					11549284	Standard	NM_001099660		Approved	NLRR3, FLJ11129, FIGLER5	uc003vfs.4	Q9H3W5	OTTHUMG00000155039	ENST00000422987.3:c.1199C>T	7.37:g.110764027C>T	ENSP00000412417:p.Pro400Leu					IMMP2L_ENST00000415362.1_Intron|IMMP2L_ENST00000450877.1_Intron|IMMP2L_ENST00000489381.1_Intron|IMMP2L_ENST00000405709.2_Intron|IMMP2L_ENST00000331762.3_Intron|IMMP2L_ENST00000452895.1_Intron|IMMP2L_ENST00000447215.1_Intron|LRRN3_ENST00000422987.3_Missense_Mutation_p.P400L|IMMP2L_ENST00000437687.1_Intron|LRRN3_ENST00000308478.5_Missense_Mutation_p.P400L	p.P400L	NM_001099660.1	NP_001093130.1	Q9H3W5	LRRN3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;0.245)|LUSC - Lung squamous cell carcinoma(290;0.0715)|Lung(3;0.0864)|STAD - Stomach adenocarcinoma(3;0.125)	4	2245	+			400			LRRCT.		O43377|Q6I9V8|Q8IYQ6	Missense_Mutation	SNP	ENST00000422987.3	37	c.1199C>T	CCDS5754.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.100590	0.76983	.	.	ENSG00000173114	ENST00000308478;ENST00000451085;ENST00000422987	T;T;T	0.64260	-0.09;-0.09;-0.09	5.91	5.91	0.95273	Cysteine-rich flanking region, C-terminal (1);	0.000000	0.64402	D	0.000010	T	0.79776	0.4504	M	0.76328	2.33	0.80722	D	1	D	0.76494	0.999	D	0.66716	0.946	T	0.79436	-0.1804	10	0.56958	D	0.05	.	20.3011	0.98612	0.0:1.0:0.0:0.0	.	400	Q9H3W5	LRRN3_HUMAN	L	400	ENSP00000312001:P400L;ENSP00000397312:P400L;ENSP00000412417:P400L	ENSP00000312001:P400L	P	+	2	0	LRRN3	110551263	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.818000	0.86416	2.804000	0.96469	0.650000	0.86243	CCT		0.443	LRRN3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338171.2	NM_018334		7	62	0	0	0	1	0	7	62					T	110764027	C	T	110764027	3	4	287	1	0	0	0	0	1	0	0	0	9036	681	24	3	1201	3	LRRN3	7	110764027	Missense_Mutation	SNP	C	TCGA-J9-A52D-01A-11D-A29Q-08	37288576	110764027	48374636	16	13845											
IFNW1	3467	broad.mit.edu	37	chr9	21141119	21141119	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cttctctttcaggtagacacGgattccctggaagtacctcc	8	12	8	13	1	2	1	1	0	1	1	5	3	4	3	3	3	1	2	3	3	3	5	rs141528866	byFrequency	TCGA-J9-A52D-01A-11D-A29Q-08	TCGA-J9-A52D-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e63c8077-ee5f-4ff5-a416-8f73b2675957	14d30fae-711c-4b77-a452-4fd8eb1c039c	g.chr9:21141119G>T	ENST00000380229.2	-	1	1025	c.451C>A	c.(451-453)Cgt>Agt	p.R151S		NM_002177.1	NP_002168.1	P05000	IFNW1_HUMAN	interferon, omega 1	151					adaptive immune response (GO:0002250)|B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|cell cycle arrest (GO:0007050)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|natural killer cell activation involved in immune response (GO:0002323)|positive regulation of peptidyl-serine phosphorylation of STAT protein (GO:0033141)|regulation of MHC class I biosynthetic process (GO:0045343)|response to exogenous dsRNA (GO:0043330)|response to virus (GO:0009615)|T cell activation involved in immune response (GO:0002286)	extracellular space (GO:0005615)	cytokine activity (GO:0005125)|cytokine receptor binding (GO:0005126)|type I interferon receptor binding (GO:0005132)			endometrium(1)|kidney(1)|lung(2)|ovary(1)	5				GBM - Glioblastoma multiforme(5;2.35e-185)|Lung(24;2.24e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)		AGGTAGACACGGATTCCCTGG	0.483																																						ENST00000380229.2																			0				endometrium(1)|kidney(1)|lung(2)|ovary(1)	5						c.(451-453)Cgt>Agt		interferon, omega 1							95	89	91					9																	21141119		2203	4300	6503	SO:0001583	missense	3467				cell cycle arrest|defense response|response to virus	extracellular space	cytokine activity|cytokine receptor binding	g.chr9:21141119G>T		CCDS6496.1	9p22	2010-12-10			ENSG00000177047	ENSG00000177047		"Interferons"	5448	protein-coding gene	gene with protein product	"IFN-omega 1, interferon omega-1"	147553				1385305	Standard	NM_002177		Approved		uc003zol.1	P05000	OTTHUMG00000019656	ENST00000380229.2:c.451C>A	9.37:g.21141119G>T	ENSP00000369578:p.Arg151Ser						p.R151S	NM_002177.1	NP_002168.1	P05000	IFNW1_HUMAN		GBM - Glioblastoma multiforme(5;2.35e-185)|Lung(24;2.24e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)	1	1025	-			151					Q13168|Q5U802|Q5VWD0|Q7M4P5	Missense_Mutation	SNP	ENST00000380229.2	37	c.451C>A	CCDS6496.1	.	.	.	.	.	.	.	.	.	.	G	11.33	1.606290	0.28623	.	.	ENSG00000177047	ENST00000380229	T	0.03124	4.04	4.44	-5.11	0.02901	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	1.357460	0.04432	N	0.369433	T	0.02012	0.0063	N	0.10837	0.055	0.09310	N	1	P	0.38582	0.638	B	0.41088	0.347	T	0.35798	-0.9774	10	0.20519	T	0.43	.	1.0381	0.01553	0.2381:0.1172:0.1844:0.4603	.	151	P05000	IFNW1_HUMAN	S	151	ENSP00000369578:R151S	ENSP00000369578:R151S	R	-	1	0	IFNW1	21131119	0.000000	0.05858	0.000000	0.03702	0.525000	0.34531	-1.339000	0.02652	-0.706000	0.05028	0.460000	0.39030	CGT		0.483	IFNW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051885.1	NM_002177		43	36	1	0	3.09479e-21	1	3.47374e-21	43	36					T	21141119	G	T	21141119	3	4	287	1	0	0	0	0	1	0	0	0	7552	1116	39	5	140	5	IFNW1	9	21141119	Missense_Mutation	SNP	G	TCGA-J9-A52D-01A-11D-A29Q-08		21141119	120072312	17	13846											
ZNF618	114991	broad.mit.edu	37	chr9	116811992	116811992	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aggtgcacccggcccacaagGtggccatgatcctggacccg	8	5	13	15	2	0	1	0	1	0	0	1	2	1	2	5	5	1	1	5	5	1	0			TCGA-J9-A52D-01A-11D-A29Q-08	TCGA-J9-A52D-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e63c8077-ee5f-4ff5-a416-8f73b2675957	14d30fae-711c-4b77-a452-4fd8eb1c039c	g.chr9:116811992G>T	ENST00000374126.5	+	15	2509	c.2410G>T	c.(2410-2412)Gtg>Ttg	p.V804L	ZNF618_ENST00000470105.1_3'UTR|ZNF618_ENST00000288466.7_Missense_Mutation_p.V711L			Q5T7W0	ZN618_HUMAN	zinc finger protein 618	804					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(4)|lung(10)|urinary_tract(1)	16						GGCCCACAAGGTGGCCATGAT	0.612																																						ENST00000288466.7																			0				breast(1)|endometrium(4)|lung(10)|urinary_tract(1)	16						c.(2131-2133)Gtg>Ttg		zinc finger protein 618							44	51	49					9																	116811992		2075	4198	6273	SO:0001583	missense	114991				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:116811992G>T	BC012922	CCDS48008.1	9q33.1	2010-04-21			ENSG00000157657	ENSG00000157657		"Zinc fingers, C2H2-type"	29416	protein-coding gene	gene with protein product	"neural precursor cell expressed, developmentally down-regulated 10"					11853319	Standard	NM_133374		Approved	KIAA1952, NEDD10	uc004bic.3	Q5T7W0	OTTHUMG00000020532	ENST00000374126.5:c.2410G>T	9.37:g.116811992G>T	ENSP00000363241:p.Val804Leu					ZNF618_ENST00000374126.5_Missense_Mutation_p.V804L|ZNF618_ENST00000470105.1_3'UTR	p.V711L	NM_133374.2	NP_588615.2	Q5T7W0	ZN618_HUMAN			14	2230	+			804					B9EG82|Q4G0X6|Q5T7W1|Q6ZT53|Q7Z6B9|Q8TF49|Q96E49	Missense_Mutation	SNP	ENST00000374126.5	37	c.2131G>T		.	.	.	.	.	.	.	.	.	.	G	22.0	4.235357	0.79800	.	.	ENSG00000157657	ENST00000374126;ENST00000288466	T;T	0.21734	1.99;1.99	5.39	5.39	0.77823	Ribonuclease H-like (1);	0.000000	0.85682	D	0.000000	T	0.48466	0.1501	.	.	.	0.80722	D	1	P;D;D	0.69078	0.932;0.994;0.997	P;D;D	0.77557	0.891;0.978;0.99	T	0.38265	-0.9669	9	0.45353	T	0.12	-22.7284	18.5094	0.90910	0.0:0.0:1.0:0.0	.	771;804;711	B9EG82;Q5T7W0;Q5T7W0-2	.;ZN618_HUMAN;.	L	804;711	ENSP00000363241:V804L;ENSP00000288466:V711L	ENSP00000288466:V711L	V	+	1	0	ZNF618	115851813	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.407000	0.80029	2.700000	0.92200	0.561000	0.74099	GTG		0.612	ZNF618-004	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000053749.1	XM_054983		7	98	1	0	2.0095e-06	1	2.08533e-06	7	98					T	116811992	G	T	116811992	3	4	287	1	0	0	0	0	1	0	0	0	18039	1261	44	5	2185	5	ZNF618	9	116811992	Missense_Mutation	SNP	G	TCGA-J9-A52D-01A-11D-A29Q-08	95670873	116811992	24401439	18	13847											
MAPKAP1	79109	broad.mit.edu	37	chr9	128230300	128230300	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcacagagcaggtcggaatcGattgagatgggtttctgctt	9	11	14	7	2	1	2	0	1	1	2	3	5	1	3	0	3	2	4	0	3	1	3			TCGA-J9-A52D-01A-11D-A29Q-08	TCGA-J9-A52D-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e63c8077-ee5f-4ff5-a416-8f73b2675957	14d30fae-711c-4b77-a452-4fd8eb1c039c	g.chr9:128230300G>A	ENST00000373498.1	-	9	1364	c.1296C>T	c.(1294-1296)atC>atT	p.I432I	MAPKAP1_ENST00000373497.5_Silent_p.I145I|MAPKAP1_ENST00000265960.3_Silent_p.I432I|MAPKAP1_ENST00000373503.3_Silent_p.I240I|MAPKAP1_ENST00000373511.2_Silent_p.I385I|MAPKAP1_ENST00000394063.1_Silent_p.I240I|MAPKAP1_ENST00000483937.1_5'UTR|MAPKAP1_ENST00000350766.3_Silent_p.I396I			Q9BPZ7	SIN1_HUMAN	mitogen-activated protein kinase associated protein 1	432					epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|negative regulation of Ras protein signal transduction (GO:0046580)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|substantia nigra development (GO:0021762)|T cell costimulation (GO:0031295)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	phosphatidic acid binding (GO:0070300)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein kinase binding (GO:0019901)|Ras GTPase binding (GO:0017016)			endometrium(2)|kidney(1)|large_intestine(2)|lung(15)|ovary(3)	23						GGTCGGAATCGATTGAGATGG	0.453																																						ENST00000265960.3																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(15)|ovary(3)	23						c.(1294-1296)atC>atT		mitogen-activated protein kinase associated protein 1							200	192	195					9																	128230300		2203	4300	6503	SO:0001819	synonymous_variant	79109				nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|response to stress|T cell costimulation	cytoplasmic membrane-bounded vesicle|cytosol|nucleus|plasma membrane	Ras GTPase binding	g.chr9:128230300G>A	M37191	CCDS6864.1, CCDS35139.1, CCDS35140.1, CCDS35141.1, CCDS48020.1	9q34.11	2008-02-05			ENSG00000119487	ENSG00000119487			18752	protein-coding gene	gene with protein product	"stress-activated protein kinase-interacting 1"	610558				15363842	Standard	NM_001006620		Approved	MGC2745, SIN1, MIP1	uc004bpv.3	Q9BPZ7	OTTHUMG00000020683	ENST00000373498.1:c.1296C>T	9.37:g.128230300G>A						MAPKAP1_ENST00000373503.3_Silent_p.I240I|MAPKAP1_ENST00000373498.1_Silent_p.I432I|MAPKAP1_ENST00000373497.5_Silent_p.I145I|MAPKAP1_ENST00000483937.1_5'UTR|MAPKAP1_ENST00000350766.3_Silent_p.I396I|MAPKAP1_ENST00000373511.2_Silent_p.I385I|MAPKAP1_ENST00000394063.1_Silent_p.I240I	p.I432I	NM_001006617.1	NP_001006618.1	Q9BPZ7	SIN1_HUMAN			10	1628	-			432					A8K1Z5|B1AMA4|B7Z309|Q00426|Q5JSV5|Q5JSV6|Q5JSV9|Q658R0|Q699U1|Q699U2|Q699U3|Q699U4|Q6GVJ0|Q6GVJ1|Q6GVJ2	Silent	SNP	ENST00000373498.1	37	c.1296C>T	CCDS35140.1																																																																																				0.453	MAPKAP1-009	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054092.1			8	107	0	0	0	1	0	8	107					A	128230300	G	A	128230300	2	1	287	1	0	0	0	0	0	0	0	1	9288	1048	37	2		2	MAPKAP1	9	128230300	Silent	SNP	G	TCGA-J9-A52D-01A-11D-A29Q-08	11418308	128230300	12983131	19	13848											
BAMBI	25805	broad.mit.edu	37	chr10	28970265	28970265	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atctgagctcagcgcctgctTctctagacttcttgatcctc	6	14	7	14	1	4	3	1	2	3	1	7	3	5	3	2	0	3	2	2	0	1	4			TCGA-J9-A52D-01A-11D-A29Q-08	TCGA-J9-A52D-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e63c8077-ee5f-4ff5-a416-8f73b2675957	14d30fae-711c-4b77-a452-4fd8eb1c039c	g.chr10:28970265T>A	ENST00000375533.3	+	2	711	c.155T>A	c.(154-156)tTc>tAc	p.F52Y		NM_012342.2	NP_036474.1	Q13145	BAMBI_HUMAN	BMP and activin membrane-bound inhibitor	52					cell migration (GO:0016477)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of protein binding (GO:0032092)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell shape (GO:0008360)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	frizzled binding (GO:0005109)|type II transforming growth factor beta receptor binding (GO:0005114)			central_nervous_system(5)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1)	17						AGCGCCTGCTTCTCTAGACTT	0.498																																						ENST00000375533.3																			0				central_nervous_system(5)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1)	17						c.(154-156)tTc>tAc		BMP and activin membrane-bound inhibitor							120	110	113					10																	28970265		2203	4300	6503	SO:0001583	missense	25805				cell migration|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of cell proliferation|positive regulation of epithelial to mesenchymal transition|positive regulation of protein binding|positive regulation of transcription, DNA-dependent|regulation of cell shape	cytoplasm|integral to membrane|plasma membrane	frizzled binding|type II transforming growth factor beta receptor binding	g.chr10:28970265T>A	U23070	CCDS7162.1	10p12.3-p11.2	2013-07-23	2013-07-23		ENSG00000095739	ENSG00000095739			30251	protein-coding gene	gene with protein product		604444	"BMP and activin membrane-bound inhibitor homolog (Xenopus laevis)"			8621228, 19758997	Standard	NM_012342		Approved	NMA	uc001iuj.1	Q13145	OTTHUMG00000017874	ENST00000375533.3:c.155T>A	10.37:g.28970265T>A	ENSP00000364683:p.Phe52Tyr						p.F52Y	NM_012342.2	NP_036474.1	Q13145	BAMBI_HUMAN			2	711	+			52						Missense_Mutation	SNP	ENST00000375533.3	37	c.155T>A	CCDS7162.1	.	.	.	.	.	.	.	.	.	.	T	18.87	3.714576	0.68730	.	.	ENSG00000095739	ENST00000375533;ENST00000542444	D	0.90504	-2.68	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	D	0.92861	0.7729	L	0.43152	1.355	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.85130	0.995;0.997	D	0.91342	0.5098	10	0.26408	T	0.33	.	15.8715	0.79122	0.0:0.0:0.0:1.0	.	52;52	Q13145;Q53G66	BAMBI_HUMAN;.	Y	52	ENSP00000364683:F52Y	ENSP00000364683:F52Y	F	+	2	0	BAMBI	29010271	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.990000	0.88215	2.155000	0.67459	0.533000	0.62120	TTC		0.498	BAMBI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047374.1	NM_012342		37	45	0	0	0	1	0	37	45					A	28970265	T	A	28970265	3	1	287	1	0	0	0	0	1	0	0	0	1306	1783	62	5	161	5	BAMBI	10	28970265	Missense_Mutation	SNP	T	TCGA-J9-A52D-01A-11D-A29Q-08		28970265	106564482	20	13849											
OGDHL	55753	broad.mit.edu	37	chr10	50953976	50953976	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	accacccgggccacgtcggtCgggtatggtgaggagcgggc	6	5	18	12	5	0	1	0	1	0	0	2	2	0	2	3	6	1	1	3	6	1	1			TCGA-J9-A52D-01A-11D-A29Q-08	TCGA-J9-A52D-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e63c8077-ee5f-4ff5-a416-8f73b2675957	14d30fae-711c-4b77-a452-4fd8eb1c039c	g.chr10:50953976C>T	ENST00000374103.4	-	11	1429	c.1344G>A	c.(1342-1344)ccG>ccA	p.P448P	OGDHL_ENST00000432695.1_Silent_p.P239P|OGDHL_ENST00000419399.1_Silent_p.P391P	NM_018245.2	NP_060715.2	Q9ULD0	OGDHL_HUMAN	oxoglutarate dehydrogenase-like	448					glycolytic process (GO:0006096)|tricarboxylic acid cycle (GO:0006099)	mitochondrion (GO:0005739)	metal ion binding (GO:0046872)|oxoglutarate dehydrogenase (succinyl-transferring) activity (GO:0004591)|thiamine pyrophosphate binding (GO:0030976)			central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	61						CCACGTCGGTCGGGTATGGTG	0.552																																						ENST00000374103.4																			0				central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	61						c.(1342-1344)ccG>ccA		oxoglutarate dehydrogenase-like							68	64	65					10																	50953976		2203	4300	6503	SO:0001819	synonymous_variant	55753				glycolysis	mitochondrial matrix	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding	g.chr10:50953976C>T	AK001713	CCDS7234.1, CCDS44390.1, CCDS44391.1	10q11.23	2013-09-20			ENSG00000197444	ENSG00000197444			25590	protein-coding gene	gene with protein product						10574462	Standard	NM_018245		Approved	FLJ10851	uc001jie.3	Q9ULD0	OTTHUMG00000018200	ENST00000374103.4:c.1344G>A	10.37:g.50953976C>T						OGDHL_ENST00000419399.1_Silent_p.P391P|OGDHL_ENST00000432695.1_Silent_p.P239P	p.P448P	NM_018245.2	NP_060715.2	Q9ULD0	OGDHL_HUMAN			11	1429	-			448					A8K2G1|B4DKG2|B4E193|Q8TAN9|Q9NVA0	Silent	SNP	ENST00000374103.4	37	c.1344G>A	CCDS7234.1																																																																																				0.552	OGDHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048007.1	NM_018245		18	38	0	0	0	1	0	18	38					T	50953976	C	T	50953976	2	4	287	1	0	0	0	0	0	0	0	1	10840	871	31	2		2	OGDHL	10	50953976	Silent	SNP	C	TCGA-J9-A52D-01A-11D-A29Q-08	21983711	50953976	84580771	21	13850											
DNAJC24	120526	broad.mit.edu	37	chr11	31436377	31436377	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtatcatccagataaacaaaGtacagatgtaccagcaggaa	18	7	8	8	0	1	2	1	0	0	2	2	3	2	3	2	1	4	4	2	1	7	4			TCGA-J9-A52D-01A-11D-A29Q-08	TCGA-J9-A52D-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e63c8077-ee5f-4ff5-a416-8f73b2675957	14d30fae-711c-4b77-a452-4fd8eb1c039c	g.chr11:31436377G>T	ENST00000465995.1	+	3	237	c.131G>T	c.(130-132)aGt>aTt	p.S44I	DNAJC24_ENST00000536040.1_Missense_Mutation_p.S43I	NM_181706.4	NP_859057.4	Q6P3W2	DJC24_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 24	43	J. {ECO:0000255|PROSITE- ProRule:PRU00286}.				chaperone-mediated protein folding (GO:0061077)|oxidation-reduction process (GO:0055114)|peptidyl-diphthamide biosynthetic process from peptidyl-histidine (GO:0017183)|positive regulation of ATPase activity (GO:0032781)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	ATPase activator activity (GO:0001671)|ferrous iron binding (GO:0008198)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|skin(1)|upper_aerodigestive_tract(2)	11						GATAAACAAAGTACAGATGTA	0.398																																						ENST00000536040.1																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|skin(1)|upper_aerodigestive_tract(2)	11						c.(127-129)aGt>aTt		DnaJ (Hsp40) homolog, subfamily C, member 24							98	96	97					11																	31436377		1920	4132	6052	SO:0001583	missense	120526				protein folding		heat shock protein binding|metal ion binding|unfolded protein binding	g.chr11:31436377G>T	AL833128	CCDS7873.2	11p14.1	2011-09-02	2008-07-03	2008-07-03	ENSG00000170946	ENSG00000170946		"Heat shock proteins / DNAJ (HSP40)"	26979	protein-coding gene	gene with protein product		611072	"zinc finger, CSL-type containing 3", "DPH4 homolog (JJJ3, S. cerevisiae)", "DPH4, JJJ3 homolog (S. cerevisiae)"	ZCSL3, DPH4		15485916	Standard	NM_181706		Approved	JJJ3	uc001msx.3	Q6P3W2	OTTHUMG00000133712	ENST00000465995.1:c.131G>T	11.37:g.31436377G>T	ENSP00000417548:p.Ser44Ile					DNAJC24_ENST00000465995.1_Missense_Mutation_p.S44I	p.S43I			Q6P3W2	DJC24_HUMAN			3	220	+			43			J.		A8K0V0|B1ALC1|I6L9B4	Missense_Mutation	SNP	ENST00000465995.1	37	c.128G>T	CCDS7873.2	.	.	.	.	.	.	.	.	.	.	G	10.56	1.383753	0.25031	.	.	ENSG00000170946	ENST00000465995;ENST00000536040	T;T	0.32023	1.47;1.47	6.17	5.26	0.73747	Heat shock protein DnaJ, N-terminal (5);	0.327433	0.39909	N	0.001226	T	0.33030	0.0849	L	0.33668	1.02	0.36974	D	0.893959	D;P	0.67145	0.996;0.897	P;P	0.51516	0.672;0.543	T	0.34329	-0.9833	10	0.49607	T	0.09	.	12.0958	0.53755	0.1469:0.0:0.8531:0.0	.	43;44	Q6P3W2;D3DQZ6	DJC24_HUMAN;.	I	44;43	ENSP00000417548:S44I;ENSP00000444967:S43I	ENSP00000417548:S44I	S	+	2	0	DNAJC24	31392953	1.000000	0.71417	0.827000	0.32855	0.086000	0.17979	3.169000	0.50809	1.621000	0.50320	0.655000	0.94253	AGT		0.398	DNAJC24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258011.3	NM_181706		9	68	1	0	7.48243e-07	1	7.91411e-07	9	68					T	31436377	G	T	31436377	3	4	287	1	0	0	0	0	1	0	0	0	4642	1029	36	5	137	5	DNAJC24	11	31436377	Missense_Mutation	SNP	G	TCGA-J9-A52D-01A-11D-A29Q-08		31436377	103570139	22	13851											
RCOR2	283248	broad.mit.edu	37	chr11	63679992	63679992	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aatagccccaaagtctttgcCatacctacggatggctgcaa	12	9	8	12	1	1	0	0	0	1	0	1	1	1	1	4	2	5	2	4	2	6	4			TCGA-J9-A52D-01A-11D-A29Q-08	TCGA-J9-A52D-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e63c8077-ee5f-4ff5-a416-8f73b2675957	14d30fae-711c-4b77-a452-4fd8eb1c039c	g.chr11:63679992C>T	ENST00000301459.4	-	11	1429	c.1042G>A	c.(1042-1044)Ggc>Agc	p.G348S	RCOR2_ENST00000473926.2_5'Flank	NM_173587.3	NP_775858.2	Q8IZ40	RCOR2_HUMAN	REST corepressor 2	348	SANT 2. {ECO:0000255|PROSITE- ProRule:PRU00624}.				negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	chromatin (GO:0000785)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)	p.Y347fs*39(1)		kidney(2)|large_intestine(3)|liver(1)|lung(5)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	17						AAGTCTTTGCCATACCTACGG	0.547																																						ENST00000301459.4																			1	Deletion - Frameshift(1)	p.Y347fs*39(1)	liver(1)	kidney(2)|large_intestine(3)|liver(1)|lung(5)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	17						c.(1042-1044)Ggc>Agc		REST corepressor 2							66	77	74					11																	63679992		2201	4297	6498	SO:0001583	missense	283248				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr11:63679992C>T	BC010608	CCDS8052.1	11q13.1	2008-02-05			ENSG00000167771	ENSG00000167771			27455	protein-coding gene	gene with protein product						12477932	Standard	NM_173587		Approved		uc001nyc.3	Q8IZ40	OTTHUMG00000150472	ENST00000301459.4:c.1042G>A	11.37:g.63679992C>T	ENSP00000301459:p.Gly348Ser						p.G348S	NM_173587.3	NP_775858.2	Q8IZ40	RCOR2_HUMAN			11	1429	-			348			SANT 2.		Q96FP3	Missense_Mutation	SNP	ENST00000301459.4	37	c.1042G>A	CCDS8052.1	.	.	.	.	.	.	.	.	.	.	C	32	5.156644	0.94686	.	.	ENSG00000167771	ENST00000301459	T	0.69926	-0.44	4.55	4.55	0.56014	Myb, DNA-binding (1);SANT domain, DNA binding (1);Homeodomain-related (1);Homeodomain-like (1);SANT, eukarya (1);	0.000000	0.85682	D	0.000000	D	0.83709	0.5313	M	0.93283	3.4	0.58432	D	0.999999	D	0.65815	0.995	P	0.57283	0.817	D	0.88664	0.3191	10	0.87932	D	0	.	16.6282	0.84992	0.0:1.0:0.0:0.0	.	348	Q8IZ40	RCOR2_HUMAN	S	348	ENSP00000301459:G348S	ENSP00000301459:G348S	G	-	1	0	RCOR2	63436568	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.314000	0.78988	2.536000	0.85505	0.561000	0.74099	GGC		0.547	RCOR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318233.1	NM_173587		54	60	0	0	0	1	0	54	60					T	63679992	C	T	63679992	3	4	287	1	0	0	0	0	1	0	0	0	13183	594	21	3	537	3	RCOR2	11	63679992	Missense_Mutation	SNP	C	TCGA-J9-A52D-01A-11D-A29Q-08	32243615	63679992	71326524	23	13852											
DIXDC1	85458	broad.mit.edu	37	chr11	111845678	111845678	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cagcagtacgaagggcaacaAaggtccccgtctgaatccag	13	5	11	12	2	1	1	0	1	1	0	3	2	3	1	3	2	3	3	3	2	5	1			TCGA-J9-A52D-01A-11D-A29Q-08	TCGA-J9-A52D-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e63c8077-ee5f-4ff5-a416-8f73b2675957	14d30fae-711c-4b77-a452-4fd8eb1c039c	g.chr11:111845678A>T	ENST00000529225.1	+	6	904	c.624A>T	c.(622-624)caA>caT	p.Q208H	DIXDC1_ENST00000531396.1_Missense_Mutation_p.Q209H|DIXDC1_ENST00000389821.4_3'UTR|DIXDC1_ENST00000315253.5_5'Flank|DIXDC1_ENST00000440460.2_Missense_Mutation_p.Q209H	NM_001278542.1	NP_001265471.1	Q155Q3	DIXC1_HUMAN	DIX domain containing 1	209	Actin-binding.				camera-type eye development (GO:0043010)|cell cycle (GO:0007049)|cerebellar cortex development (GO:0021695)|cerebral cortex radially oriented cell migration (GO:0021799)|forebrain development (GO:0030900)|forebrain ventricular zone progenitor cell division (GO:0021869)|negative regulation of neuron differentiation (GO:0045665)|positive regulation of axonogenesis (GO:0050772)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of JNK cascade (GO:0046330)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of JNK cascade (GO:0046328)|regulation of microtubule cytoskeleton organization (GO:0070507)|Wnt signaling pathway (GO:0016055)	axon terminus (GO:0043679)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cytosol (GO:0005829)|neuronal cell body (GO:0043025)|protein complex (GO:0043234)	gamma-tubulin binding (GO:0043015)|mitogen-activated protein kinase kinase kinase binding (GO:0031435)			cervix(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)	17		all_cancers(61;7.58e-15)|all_epithelial(67;5.42e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		Epithelial(105;2.99e-07)|BRCA - Breast invasive adenocarcinoma(274;6.72e-07)|all cancers(92;6.25e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0548)		AAGGGCAACAAAGGTCCCCGT	0.507																																						ENST00000440460.2																			0				cervix(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)	17						c.(625-627)caA>caT		DIX domain containing 1							67	72	70					11																	111845678		1968	4147	6115	SO:0001583	missense	85458				multicellular organismal development|positive regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	cytosol|focal adhesion	actin binding|gamma-tubulin binding|signal transducer activity	g.chr11:111845678A>T	AB051522	CCDS60957.1, CCDS73381.1, CCDS73382.1	11q23.1	2014-03-20			ENSG00000150764	ENSG00000150764			23695	protein-coding gene	gene with protein product		610493				12792787	Standard	NM_001037954		Approved	KIAA1735, Dixin	uc001pmm.3	Q155Q3	OTTHUMG00000166912	ENST00000529225.1:c.624A>T	11.37:g.111845678A>T	ENSP00000434130:p.Gln208His					DIXDC1_ENST00000389821.4_3'UTR|DIXDC1_ENST00000531396.1_Missense_Mutation_p.Q209H|DIXDC1_ENST00000529225.1_Missense_Mutation_p.Q208H	p.Q209H	NM_001037954.2	NP_001033043.1	Q155Q3	DIXC1_HUMAN		Epithelial(105;2.99e-07)|BRCA - Breast invasive adenocarcinoma(274;6.72e-07)|all cancers(92;6.25e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0548)	5	924	+		all_cancers(61;7.58e-15)|all_epithelial(67;5.42e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)	209			Actin-binding.		A1A5D8|E9PRV4|Q6P2J8|Q6PIK4|Q86SR7|Q8IVY4|Q96N69|Q9C0C8	Missense_Mutation	SNP	ENST00000529225.1	37	c.627A>T		.	.	.	.	.	.	.	.	.	.	A	13.91	2.379285	0.42207	.	.	ENSG00000150764	ENST00000529225;ENST00000440460;ENST00000531396	T;T;T	0.77877	-1.13;-0.59;-1.12	5.88	-7.25	0.01470	.	0.413834	0.23049	N	0.052501	T	0.53174	0.1780	N	0.08118	0	0.80722	D	1	B;B;B	0.10296	0.003;0.002;0.003	B;B;B	0.12156	0.002;0.007;0.002	T	0.04551	-1.0943	10	0.31617	T	0.26	-2.2995	15.6714	0.77279	0.2476:0.0:0.6579:0.0944	.	209;209;208	Q155Q3;Q155Q3-4;E9PRV4	DIXC1_HUMAN;.;.	H	208;209;209	ENSP00000434130:Q208H;ENSP00000394352:Q209H;ENSP00000432959:Q209H	ENSP00000394352:Q209H	Q	+	3	2	DIXDC1	111350888	0.003000	0.15002	0.717000	0.30585	0.843000	0.47879	-1.277000	0.02812	-1.506000	0.01805	0.455000	0.32223	CAA		0.507	DIXDC1-002	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000391831.1	NM_001037954		5	18	0	0	0	1	0	5	18					T	111845678	A	T	111845678	3	4	287	1	0	0	0	0	1	0	0	0	4541	11	1	5	645	5	DIXDC1	11	111845678	Missense_Mutation	SNP	A	TCGA-J9-A52D-01A-11D-A29Q-08	48165686	111845678	23160838	24	13853											
ERC1	23085	broad.mit.edu	37	chr12	1219473	1219473	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaagaagaaatgaagcaaaTggaagtgtatcggagccatt	17	7	13	4	1	0	3	0	1	0	2	1	6	0	6	1	3	2	2	1	3	7	2			TCGA-J9-A52D-01A-11D-A29Q-08	TCGA-J9-A52D-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e63c8077-ee5f-4ff5-a416-8f73b2675957	14d30fae-711c-4b77-a452-4fd8eb1c039c	g.chr12:1219473T>G	ENST00000397203.2	+	5	1683	c.1277T>G	c.(1276-1278)aTg>aGg	p.M426R	ERC1_ENST00000546231.2_Missense_Mutation_p.M426R|ERC1_ENST00000355446.5_Missense_Mutation_p.M426R|ERC1_ENST00000536573.2_3'UTR|ERC1_ENST00000589028.1_Missense_Mutation_p.M426R|ERC1_ENST00000360905.4_Missense_Mutation_p.M426R|ERC1_ENST00000543086.3_Missense_Mutation_p.M426R			Q8IUD2	RB6I2_HUMAN	ELKS/RAB6-interacting/CAST family member 1	426					I-kappaB phosphorylation (GO:0007252)|multicellular organismal development (GO:0007275)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein transport (GO:0015031)|regulation of transcription, DNA-templated (GO:0006355)|retrograde transport, endosome to Golgi (GO:0042147)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|IkappaB kinase complex (GO:0008385)|presynaptic membrane (GO:0042734)	leucine zipper domain binding (GO:0043522)			NS(1)|breast(2)|cervix(2)|endometrium(2)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	38	all_epithelial(11;0.0698)|Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.00239)|BRCA - Breast invasive adenocarcinoma(9;0.0567)			ATGAAGCAAATGGAAGTGTAT	0.373																																						ENST00000397203.2																			0				NS(1)|breast(2)|cervix(2)|endometrium(2)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						c.(1276-1278)aTg>aGg		ELKS/RAB6-interacting/CAST family member 1							111	113	112					12																	1219473		2203	4300	6503	SO:0001583	missense	23085				I-kappaB phosphorylation|multicellular organismal development|positive regulation of anti-apoptosis|positive regulation of NF-kappaB transcription factor activity|protein transport	Golgi membrane|IkappaB kinase complex|presynaptic membrane	leucine zipper domain binding	g.chr12:1219473T>G	AB015617	CCDS8508.1, CCDS53732.1	12p13.3	2008-02-05	2006-08-14	2006-08-14	ENSG00000082805	ENSG00000082805			17072	protein-coding gene	gene with protein product		607127	"RAB6 interacting protein 2"	RAB6IP2		10697956, 11929610	Standard	NM_178040		Approved	ELKS, KIAA1081, CAST2, MGC12974	uc001qjb.2	Q8IUD2	OTTHUMG00000130138	ENST00000397203.2:c.1277T>G	12.37:g.1219473T>G	ENSP00000380386:p.Met426Arg					ERC1_ENST00000543086.3_Missense_Mutation_p.M426R|ERC1_ENST00000360905.4_Missense_Mutation_p.M426R|ERC1_ENST00000546231.2_Missense_Mutation_p.M426R|ERC1_ENST00000589028.1_Missense_Mutation_p.M426R|ERC1_ENST00000355446.5_Missense_Mutation_p.M426R|ERC1_ENST00000536573.2_3'UTR	p.M426R			Q8IUD2	RB6I2_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00239)|BRCA - Breast invasive adenocarcinoma(9;0.0567)		5	1683	+	all_epithelial(11;0.0698)|Ovarian(42;0.107)		426					A2RU77|A7E295|D3DUP7|D3DUP8|Q6NVK2|Q8IUD3|Q8IUD4|Q8IUD5|Q8NAS1|Q9NXN5|Q9UIK7|Q9UPS1	Missense_Mutation	SNP	ENST00000397203.2	37	c.1277T>G	CCDS8508.1	.	.	.	.	.	.	.	.	.	.	T	26.3	4.722775	0.89298	.	.	ENSG00000082805	ENST00000347735;ENST00000397203;ENST00000454194;ENST00000537890;ENST00000543086;ENST00000542302;ENST00000546231;ENST00000355446;ENST00000360905;ENST00000440394;ENST00000538971;ENST00000536573	T;T;T;T;T;T;T;T	0.47528	0.84;0.84;0.84;0.84;0.84;0.84;0.84;0.84	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	T	0.65647	0.2711	M	0.65498	2.005	0.80722	D	1	P;P;D;D;D	0.67145	0.942;0.898;0.996;0.985;0.994	P;P;P;P;D	0.63597	0.708;0.622;0.823;0.852;0.916	T	0.66348	-0.5946	10	0.49607	T	0.09	-24.7938	16.422	0.83766	0.0:0.0:0.0:1.0	.	202;63;426;426;426	F5H327;F5GZU8;Q8IUD2-2;Q8IUD2-3;Q8IUD2	.;.;.;.;RB6I2_HUMAN	R	426;426;426;426;426;426;426;426;426;426;202;63	ENSP00000340054:M426R;ENSP00000380386:M426R;ENSP00000438546:M426R;ENSP00000445336:M426R;ENSP00000442739:M426R;ENSP00000347621:M426R;ENSP00000354158:M426R;ENSP00000410064:M426R	ENSP00000340054:M426R	M	+	2	0	ERC1	1089734	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.004000	0.88535	2.283000	0.76528	0.477000	0.44152	ATG		0.373	ERC1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398380.2	NM_015064		25	27	0	0	0	1	0	25	27					G	1219473	T	G	1219473	3	3	287	1	0	0	0	0	1	0	0	0	5210	1464	51	5	1291	5	ERC1	12	1219473	Missense_Mutation	SNP	T	TCGA-J9-A52D-01A-11D-A29Q-08		1219473	132632422	25	13854											
DPY19L2	283417	broad.mit.edu	37	chr12	63954301	63954301	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tagtatccttctcagttaacCtttaatactctgtacacact	11	16	3	11	0	2	0	1	0	2	0	4	0	3	0	2	0	3	3	2	0	6	8			TCGA-J9-A52D-01A-11D-A29Q-08	TCGA-J9-A52D-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e63c8077-ee5f-4ff5-a416-8f73b2675957	14d30fae-711c-4b77-a452-4fd8eb1c039c	g.chr12:63954301C>A	ENST00000324472.4	-	22	2451	c.2268G>T	c.(2266-2268)aaG>aaT	p.K756N	DPY19L2_ENST00000413230.2_Missense_Mutation_p.K203N	NM_173812.4	NP_776173.3	Q6NUT2	D19L2_HUMAN	dpy-19-like 2 (C. elegans)	756					multicellular organismal development (GO:0007275)|spermatid development (GO:0007286)	integral component of membrane (GO:0016021)|nuclear inner membrane (GO:0005637)|nucleus (GO:0005634)	transferase activity, transferring glycosyl groups (GO:0016757)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	45			GBM - Glioblastoma multiforme(1;2.77e-05)	GBM - Glioblastoma multiforme(28;0.044)		CTCAGTTAACCTTTAATACTC	0.413																																						ENST00000324472.4																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						c.(2266-2268)aaG>aaT		dpy-19-like 2 (C. elegans)							85	80	82					12																	63954301		2203	4300	6503	SO:0001583	missense	283417				multicellular organismal development|spermatid development	integral to membrane		g.chr12:63954301C>A		CCDS31851.1	12q14.2	2012-11-14			ENSG00000177990	ENSG00000177990			19414	protein-coding gene	gene with protein product	"spermatogenesis associated 34"	613893				12975309	Standard	XM_006719348		Approved	FLJ32949, SPATA34	uc001srp.1	Q6NUT2	OTTHUMG00000168712	ENST00000324472.4:c.2268G>T	12.37:g.63954301C>A	ENSP00000315988:p.Lys756Asn					DPY19L2_ENST00000413230.2_Missense_Mutation_p.K203N	p.K756N	NM_173812.4	NP_776173.3	Q6NUT2	D19L2_HUMAN	GBM - Glioblastoma multiforme(1;2.77e-05)	GBM - Glioblastoma multiforme(28;0.044)	22	2451	-			756					A4FVC1|B4E191|Q3ZCX2|Q6UWG8|Q96LZ9	Missense_Mutation	SNP	ENST00000324472.4	37	c.2268G>T	CCDS31851.1	.	.	.	.	.	.	.	.	.	.	C	17.14	3.312466	0.60414	.	.	ENSG00000177990	ENST00000324472;ENST00000413230	T;T	0.61392	0.11;0.11	3.0	0.428	0.16499	.	0.298287	0.35936	N	0.002897	T	0.64811	0.2632	M	0.75777	2.31	0.38709	D	0.953166	D	0.59357	0.985	P	0.61477	0.889	T	0.63585	-0.6604	9	.	.	.	.	4.0931	0.09978	0.0:0.528:0.0:0.4719	.	756	Q6NUT2	D19L2_HUMAN	N	756;203	ENSP00000315988:K756N;ENSP00000439794:K203N	.	K	-	3	2	DPY19L2	62240568	0.996000	0.38824	0.392000	0.26245	0.195000	0.23768	0.312000	0.19397	0.375000	0.24679	0.162000	0.16502	AAG		0.413	DPY19L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400689.2	NM_173812		6	49	1	0	0.0215528	1	0.0215528	6	49					A	63954301	C	A	63954301	3	1	287	1	0	0	0	0	1	0	0	0	4741	680	24	5	12	5	DPY19L2	12	63954301	Missense_Mutation	SNP	C	TCGA-J9-A52D-01A-11D-A29Q-08	62734828	63954301	69897594	26	13855											
ARL1	400	broad.mit.edu	37	chr12	101794883	101794883	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atttggaaatgccaattcggTctcggtcacaactgtctact	10	13	8	10	2	3	0	1	0	2	0	5	1	3	1	1	3	3	0	1	3	4	3			TCGA-J9-A52D-01A-11D-A29Q-08	TCGA-J9-A52D-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e63c8077-ee5f-4ff5-a416-8f73b2675957	14d30fae-711c-4b77-a452-4fd8eb1c039c	g.chr12:101794883T>C	ENST00000261636.8	-	4	467	c.293A>G	c.(292-294)gAc>gGc	p.D98G	ARL1_ENST00000551688.1_Intron|ARL1_ENST00000551828.1_Missense_Mutation_p.D81G|ARL1_ENST00000536227.1_Missense_Mutation_p.D81G|ARL1_ENST00000549302.1_5'Flank|ARL1_ENST00000539055.1_Missense_Mutation_p.D52G|ARL1_ENST00000551671.1_Missense_Mutation_p.D98G	NM_001177.4	NP_001168.1	P40616	ARL1_HUMAN	ADP-ribosylation factor-like 1	98					activation of phospholipase D activity (GO:0031584)|Golgi organization (GO:0007030)|Golgi vesicle transport (GO:0048193)|GTP catabolic process (GO:0006184)|protein localization to Golgi apparatus (GO:0034067)|retrograde transport, endosome to Golgi (GO:0042147)|small GTPase mediated signal transduction (GO:0007264)|toxin metabolic process (GO:0009404)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|trans-Golgi network (GO:0005802)	enzyme activator activity (GO:0008047)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|protein domain specific binding (GO:0019904)			central_nervous_system(1)|upper_aerodigestive_tract(1)	2		Lung NSC(355;2.1e-05)|Breast(359;0.00015)|Myeloproliferative disorder(1001;0.163)		GBM - Glioblastoma multiforme(134;1.67e-09)|BRCA - Breast invasive adenocarcinoma(302;0.0125)		GCCAATTCGGTCTCGGTCACA	0.373																																						ENST00000261636.8																			0				central_nervous_system(1)|upper_aerodigestive_tract(1)	2						c.(292-294)gAc>gGc		ADP-ribosylation factor-like 1							133	125	127					12																	101794883		1875	4106	5981	SO:0001583	missense	400				small GTPase mediated signal transduction	Golgi membrane	enzyme activator activity|GTP binding|GTPase activity|metal ion binding|protein binding	g.chr12:101794883T>C	BX537387	CCDS44958.1, CCDS73510.1	12q23.3	2014-05-09						"ADP-ribosylation factors-like", "ADP-ribosylation factors"	692	protein-coding gene	gene with protein product		603425					Standard	XM_005268869		Approved	ARFL1	uc001tib.3	P40616	OTTHUMG00000170271	ENST00000261636.8:c.293A>G	12.37:g.101794883T>C	ENSP00000261636:p.Asp98Gly					ARL1_ENST00000536227.1_Missense_Mutation_p.D81G|ARL1_ENST00000551688.1_Intron|ARL1_ENST00000551828.1_Missense_Mutation_p.D81G|ARL1_ENST00000551671.1_Missense_Mutation_p.D98G|ARL1_ENST00000539055.1_Missense_Mutation_p.D52G	p.D98G	NM_001177.4	NP_001168.1	P40616	ARL1_HUMAN		GBM - Glioblastoma multiforme(134;1.67e-09)|BRCA - Breast invasive adenocarcinoma(302;0.0125)	4	467	-		Lung NSC(355;2.1e-05)|Breast(359;0.00015)|Myeloproliferative disorder(1001;0.163)	98					B4DWW1|P80417|Q53XB1	Missense_Mutation	SNP	ENST00000261636.8	37	c.293A>G	CCDS44958.1	.	.	.	.	.	.	.	.	.	.	T	33	5.254126	0.95336	.	.	ENSG00000120805	ENST00000261636;ENST00000539055;ENST00000536227;ENST00000551828;ENST00000551671	D;D;D;D;D	0.82433	-1.61;-1.61;-1.61;-1.61;-1.61	5.55	5.55	0.83447	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.85885	0.5801	M	0.79693	2.465	0.80722	D	1	B;B;B	0.22414	0.038;0.056;0.069	B;B;B	0.31946	0.138;0.098;0.113	D	0.84783	0.0774	10	0.87932	D	0	-25.031	15.8689	0.79091	0.0:0.0:0.0:1.0	.	52;98;98	B4DZG7;F8VYN9;P40616	.;.;ARL1_HUMAN	G	98;52;81;81;98	ENSP00000261636:D98G;ENSP00000439590:D52G;ENSP00000441808:D81G;ENSP00000448850:D81G;ENSP00000448912:D98G	ENSP00000261636:D98G	D	-	2	0	ARL1	100319014	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.408000	0.80041	2.333000	0.79357	0.482000	0.46254	GAC		0.373	ARL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408246.1	NM_001177		24	35	0	0	0	1	0	24	35					C	101794883	T	C	101794883	3	2	287	1	0	0	0	0	1	0	0	0	925	1667	58	4	264	4	ARL1	12	101794883	Missense_Mutation	SNP	T	TCGA-J9-A52D-01A-11D-A29Q-08	37840582	101794883	32057012	27	13856											
DCLK1	9201	broad.mit.edu	37	chr13	36402390	36402390	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acaaattttatacatactttGcctcgacatttgcttttctt	10	19	3	9	1	1	0	0	0	1	0	2	1	1	0	1	0	4	1	1	0	4	9			TCGA-J9-A52D-01A-11D-A29Q-08	TCGA-J9-A52D-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e63c8077-ee5f-4ff5-a416-8f73b2675957	14d30fae-711c-4b77-a452-4fd8eb1c039c	g.chr13:36402390G>T	ENST00000360631.3	-	9	1495	c.1284C>A	c.(1282-1284)ggC>ggA	p.G428G	DCLK1_ENST00000255448.4_Silent_p.G428G|DCLK1_ENST00000379893.1_Silent_p.G121G			O15075	DCLK1_HUMAN	doublecortin-like kinase 1	428	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon extension (GO:0048675)|central nervous system development (GO:0007417)|central nervous system projection neuron axonogenesis (GO:0021952)|dendrite morphogenesis (GO:0048813)|endosomal transport (GO:0016197)|forebrain development (GO:0030900)|nervous system development (GO:0007399)|neuron migration (GO:0001764)|protein phosphorylation (GO:0006468)|response to virus (GO:0009615)	integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein activity (GO:0005057)			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(18)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(6)|urinary_tract(1)	64		Breast(139;0.0147)|Lung SC(185;0.0685)|Prostate(109;0.122)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.72e-06)|Epithelial(112;4.24e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00159)|OV - Ovarian serous cystadenocarcinoma(117;0.0158)|GBM - Glioblastoma multiforme(144;0.0638)		TACATACTTTGCCTCGACATT	0.338																																						ENST00000255448.4																			0				breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(18)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(6)|urinary_tract(1)	64						c.(1282-1284)ggC>ggA		doublecortin-like kinase 1							97	94	95					13																	36402390		2203	4296	6499	SO:0001819	synonymous_variant	9201				cell differentiation|central nervous system development|endosome transport|intracellular signal transduction|response to virus	integral to plasma membrane	ATP binding|protein serine/threonine kinase activity|receptor signaling protein activity	g.chr13:36402390G>T	AB002367	CCDS9354.1, CCDS55895.1, CCDS73561.1	13q13.3	2008-02-05	2007-04-02	2007-04-02	ENSG00000133083	ENSG00000133083			2700	protein-coding gene	gene with protein product		604742	"doublecortin and CaM kinase-like 1"	DCAMKL1		9747029, 10036192	Standard	NM_004734		Approved	KIAA0369, DCLK, DCDC3A	uc001uvf.3	O15075	OTTHUMG00000016729	ENST00000360631.3:c.1284C>A	13.37:g.36402390G>T						DCLK1_ENST00000379893.1_Silent_p.G121G|DCLK1_ENST00000360631.3_Silent_p.G428G	p.G428G	NM_004734.4	NP_004725.1	O15075	DCLK1_HUMAN	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.72e-06)|Epithelial(112;4.24e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00159)|OV - Ovarian serous cystadenocarcinoma(117;0.0158)|GBM - Glioblastoma multiforme(144;0.0638)	9	1495	-		Breast(139;0.0147)|Lung SC(185;0.0685)|Prostate(109;0.122)	428			Protein kinase.		B7Z3E9|Q5VZY8|Q5VZZ0|Q5VZZ1	Silent	SNP	ENST00000360631.3	37	c.1284C>A																																																																																					0.338	DCLK1-010	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000044487.1	NM_004734		8	12	1	0	3.09899e-07	1	3.34204e-07	8	12					T	36402390	G	T	36402390	2	4	287	1	0	0	0	0	0	0	0	1	4291	1306	46	5		5	DCLK1	13	36402390	Silent	SNP	G	TCGA-J9-A52D-01A-11D-A29Q-08		36402390	78767488	28	13857											
IRF9	10379	broad.mit.edu	37	chr14	24632648	24632648	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	agttctgtgtcctctgagagGaaggaggaagaggatgccat	11	9	15	6	0	2	2	0	1	2	2	3	7	3	6	2	4	1	1	2	4	2	1			TCGA-J9-A52D-01A-11D-A29Q-08	TCGA-J9-A52D-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e63c8077-ee5f-4ff5-a416-8f73b2675957	14d30fae-711c-4b77-a452-4fd8eb1c039c	g.chr14:24632648G>A	ENST00000396864.3	+	4	713	c.426G>A	c.(424-426)agG>agA	p.R142R	IRF9_ENST00000557894.1_Silent_p.R40R|RP11-468E2.4_ENST00000558468.1_3'UTR	NM_006084.4	NP_006075.3	Q00978	IRF9_HUMAN	interferon regulatory factor 9	142					cell surface receptor signaling pathway (GO:0007166)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)|transcription from RNA polymerase II promoter (GO:0006366)|type I interferon biosynthetic process (GO:0045351)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	regulatory region DNA binding (GO:0000975)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R142S(1)		NS(1)|breast(2)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|skin(2)	16				GBM - Glioblastoma multiforme(265;0.00853)		CCTCTGAGAGGAAGGAGGAAG	0.532																																						ENST00000396864.3																			1	Substitution - Missense(1)	p.R142S(1)	ovary(1)	NS(1)|breast(2)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|skin(2)	16						c.(424-426)agG>agA		interferon regulatory factor 9							172	160	164					14																	24632648		2203	4300	6503	SO:0001819	synonymous_variant	10379				interferon-gamma-mediated signaling pathway|response to virus|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	cytosol|nucleoplasm	DNA binding|identical protein binding|sequence-specific DNA binding transcription factor activity	g.chr14:24632648G>A	M87503	CCDS9615.1	14q11.2	2007-07-06	2007-07-06	2007-07-06	ENSG00000213928	ENSG00000213928			6131	protein-coding gene	gene with protein product		147574	"interferon-stimulated transcription factor 3, gamma (48kD)", "interferon-stimulated transcription factor 3, gamma 48kDa"	ISGF3G		1630447, 10199920	Standard	NM_006084		Approved		uc001wmq.3	Q00978	OTTHUMG00000028799	ENST00000396864.3:c.426G>A	14.37:g.24632648G>A						RP11-468E2.4_ENST00000558468.1_3'UTR|IRF9_ENST00000557894.1_Silent_p.R40R	p.R142R	NM_006084.4	NP_006075.3	Q00978	IRF9_HUMAN		GBM - Glioblastoma multiforme(265;0.00853)	4	713	+			142					D3DS61	Silent	SNP	ENST00000396864.3	37	c.426G>A	CCDS9615.1																																																																																				0.532	IRF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071927.2			86	114	0	0	0	1	0	86	114					A	24632648	G	A	24632648	2	1	287	1	0	0	0	0	0	0	0	1	7837	1165	41	3		3	IRF9	14	24632648	Silent	SNP	G	TCGA-J9-A52D-01A-11D-A29Q-08		24632648	82716892	29	13858											
ZFP106	64397	broad.mit.edu	37	chr15	42731450	42731450	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggacttccagagacgagtcaCtatctggctcatctctgaca	10	10	9	12	1	4	2	2	1	2	1	6	5	5	3	1	2	0	1	1	2	1	2			TCGA-J9-A52D-01A-11D-A29Q-08	TCGA-J9-A52D-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e63c8077-ee5f-4ff5-a416-8f73b2675957	14d30fae-711c-4b77-a452-4fd8eb1c039c	g.chr15:42731450C>T	ENST00000263805.4	-	8	4582	c.4256G>A	c.(4255-4257)aGt>aAt	p.S1419N	ZNF106_ENST00000565380.1_Missense_Mutation_p.S647N|ZNF106_ENST00000565611.1_Missense_Mutation_p.S604N	NM_001284306.1|NM_001284307.1|NM_022473.1	NP_001271235.1|NP_001271236.1|NP_071918.1	Q9H2Y7	ZN106_HUMAN	zinc finger protein 106	1419					insulin receptor signaling pathway (GO:0008286)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)										AGACGAGTCACTATCTGGCTC	0.463																																						ENST00000263805.4																			0											c.(4255-4257)aGt>aAt		zinc finger protein 106							142	144	143					15																	42731450		2203	4299	6502	SO:0001583	missense	64397							g.chr15:42731450C>T	AF205632	CCDS32208.1, CCDS61602.1, CCDS61603.1	15q15.1	2012-11-27	2012-11-27		ENSG00000103994	ENSG00000103994		"Zinc fingers, C2H2-type"	12886	protein-coding gene	gene with protein product	"SH3-domain binding protein 3"		"zinc finger protein 106 homolog (mouse)"	ZFP106			Standard	XM_005254591		Approved	ZNF474, SH3BP3	uc001zpw.3	Q9H2Y7	OTTHUMG00000173244	ENST00000263805.4:c.4256G>A	15.37:g.42731450C>T	ENSP00000263805:p.Ser1419Asn					ZNF106_ENST00000565611.1_Missense_Mutation_p.S604N|ZNF106_ENST00000565380.1_Missense_Mutation_p.S647N	p.S1419N	NM_022473.1	NP_071918.1					8	4582	-								B4DZ40|E9PE29|Q6NSD9|Q6PEK1|Q86T43|Q86T45|Q86T50|Q86T58|Q86TA9|Q96M37|Q9H7B8	Missense_Mutation	SNP	ENST00000263805.4	37	c.4256G>A	CCDS32208.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.025160	0.75390	.	.	ENSG00000103994	ENST00000263805;ENST00000434903	T	0.61392	0.11	5.25	5.25	0.73442	.	0.151110	0.64402	D	0.000018	T	0.73505	0.3595	L	0.54323	1.7	0.48395	D	0.99964	D;D;D	0.89917	0.999;1.0;0.997	D;D;D	0.83275	0.996;0.996;0.986	T	0.74990	-0.3475	10	0.72032	D	0.01	-19.9917	19.0271	0.92937	0.0:1.0:0.0:0.0	.	647;1419;647	E9PE29;Q9H2Y7;B4DZ40	.;ZF106_HUMAN;.	N	1419;647	ENSP00000263805:S1419N	ENSP00000263805:S1419N	S	-	2	0	ZFP106	40518742	1.000000	0.71417	0.998000	0.56505	0.995000	0.86356	4.119000	0.57891	2.713000	0.92767	0.650000	0.86243	AGT		0.463	ZNF106-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422587.1	NM_022473		51	100	0	0	0	1	0	51	100					T	42731450	C	T	42731450	3	4	287	1	0	0	0	0	1	0	0	0	17634	565	20	3	1443	3	ZFP106	15	42731450	Missense_Mutation	SNP	C	TCGA-J9-A52D-01A-11D-A29Q-08		42731450	59799942	30	13859											
DCI	1632	broad.mit.edu	37	chr16	2293366	2293366	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtctcattgagtcctatgcaGtacctggggttgtccgccag	6	12	12	11	1	1	1	1	1	1	0	4	1	3	1	4	2	2	3	4	2	2	4			TCGA-J9-A52D-01A-11D-A29Q-08	TCGA-J9-A52D-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e63c8077-ee5f-4ff5-a416-8f73b2675957	14d30fae-711c-4b77-a452-4fd8eb1c039c	g.chr16:2293366G>A	ENST00000301729.4	-	5	563	c.516C>T	c.(514-516)taC>taT	p.Y172Y	ECI1_ENST00000562238.1_Intron|ECI1_ENST00000570258.1_Silent_p.Y113Y|RP11-304L19.11_ENST00000565709.1_RNA	NM_001919.3	NP_001910.2	P42126	ECI1_HUMAN	enoyl-CoA delta isomerase 1	172					cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	dodecenoyl-CoA delta-isomerase activity (GO:0004165)|intramolecular oxidoreductase activity (GO:0016860)			endometrium(1)|large_intestine(2)|lung(6)	9						GTCCTATGCAGTACCTGGGGT	0.647																																						ENST00000301729.4																			0				endometrium(1)|large_intestine(2)|lung(6)	9						c.(514-516)taC>taT		enoyl-CoA delta isomerase 1							111	95	100					16																	2293366		2198	4300	6498	SO:0001819	synonymous_variant	1632				fatty acid beta-oxidation	mitochondrial matrix	dodecenoyl-CoA delta-isomerase activity	g.chr16:2293366G>A		CCDS10464.1, CCDS58410.1	16p13.3	2011-03-15	2011-03-15	2011-03-15	ENSG00000167969	ENSG00000167969	5.3.3.8		2703	protein-coding gene	gene with protein product	"3,2 trans-enoyl-CoA isomerase"	600305	"dodecenoyl-Coenzyme A delta isomerase (3,2 trans-enoyl-Coenzyme A isomerase)", "dodecenoyl-CoA isomerase"	DCI		7829074	Standard	NM_001178029		Approved		uc002cpr.3	P42126	OTTHUMG00000128830	ENST00000301729.4:c.516C>T	16.37:g.2293366G>A						ECI1_ENST00000562238.1_Intron|ECI1_ENST00000570258.1_Silent_p.Y113Y	p.Y172Y	NM_001919.3	NP_001910.2	P42126	ECI1_HUMAN			5	563	-			172					A8K512|Q13290|Q7Z2L6|Q7Z2L7|Q9BUB8|Q9BW05|Q9UDG6	Silent	SNP	ENST00000301729.4	37	c.516C>T	CCDS10464.1																																																																																				0.647	ECI1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250768.1			76	68	0	0	0	1	0	76	68					A	2293366	G	A	2293366	2	1	287	1	0	0	0	0	0	0	0	1	4289	1024	36	3		3	DCI	16	2293366	Silent	SNP	G	TCGA-J9-A52D-01A-11D-A29Q-08		2293366	88061387	31	13860											
CHST4	10164	broad.mit.edu	37	chr16	71570800	71570800	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	atgttttctacctgatggagCccgcctggcacgtgtggatg	6	12	13	10	2	1	1	0	1	1	0	1	3	1	3	3	3	2	2	3	3	1	3			TCGA-J9-A52D-01A-11D-A29Q-08	TCGA-J9-A52D-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e63c8077-ee5f-4ff5-a416-8f73b2675957	14d30fae-711c-4b77-a452-4fd8eb1c039c	g.chr16:71570800C>T	ENST00000338482.5	+	3	563	c.220C>T	c.(220-222)Ccc>Tcc	p.P74S	CHST4_ENST00000572450.1_Missense_Mutation_p.P74S|ZNF19_ENST00000568446.1_Intron|CHST4_ENST00000539698.3_Missense_Mutation_p.P74S|RP11-510M2.5_ENST00000568523.1_RNA			Q8NCG5	CHST4_HUMAN	carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 4	74					carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|cellular component movement (GO:0006928)|immune response (GO:0006955)|inflammatory response (GO:0006954)|leukocyte tethering or rolling (GO:0050901)|N-acetylglucosamine metabolic process (GO:0006044)|protein sulfation (GO:0006477)|sulfur compound metabolic process (GO:0006790)	integral component of membrane (GO:0016021)|intrinsic component of Golgi membrane (GO:0031228)|trans-Golgi network (GO:0005802)	N-acetylglucosamine 6-O-sulfotransferase activity (GO:0001517)|sulfotransferase activity (GO:0008146)			cervix(1)|kidney(3)|large_intestine(9)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	21						CCTGATGGAGCCCGCCTGGCA	0.587																																						ENST00000338482.5																			0				cervix(1)|kidney(3)|large_intestine(9)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	21						c.(220-222)Ccc>Tcc		carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 4							106	106	106					16																	71570800		2198	4300	6498	SO:0001583	missense	10164				cell-cell signaling|immune response|inflammatory response|N-acetylglucosamine metabolic process|protein sulfation	integral to membrane|intrinsic to Golgi membrane|trans-Golgi network	N-acetylglucosamine 6-O-sulfotransferase activity	g.chr16:71570800C>T	AF131235	CCDS10902.1	16q22.2	2008-02-05			ENSG00000140835	ENSG00000140835		"Sulfotransferases, membrane-bound"	1972	protein-coding gene	gene with protein product						10330415	Standard	NM_001166395		Approved	HEC-GLCNAC-6-ST, LSST	uc002fao.3	Q8NCG5	OTTHUMG00000137592	ENST00000338482.5:c.220C>T	16.37:g.71570800C>T	ENSP00000341206:p.Pro74Ser					CHST4_ENST00000572450.1_Missense_Mutation_p.P74S|CHST4_ENST00000539698.3_Missense_Mutation_p.P74S|ZNF19_ENST00000568446.1_Intron|RP11-510M2.9_ENST00000572693.1_RNA	p.P74S			Q8NCG5	CHST4_HUMAN			3	563	+			74					Q8IV46|Q9Y5R3	Missense_Mutation	SNP	ENST00000338482.5	37	c.220C>T	CCDS10902.1	.	.	.	.	.	.	.	.	.	.	C	29.9	5.044735	0.93685	.	.	ENSG00000140835	ENST00000338482;ENST00000539698	D;D	0.99245	-5.62;-5.62	6.0	6.0	0.97389	Sulfotransferase domain (1);	0.000000	0.85682	D	0.000000	D	0.99606	0.9857	H	0.94582	3.555	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98156	1.0444	10	0.87932	D	0	-10.4417	17.9887	0.89162	0.0:1.0:0.0:0.0	.	74	Q8NCG5	CHST4_HUMAN	S	74	ENSP00000341206:P74S;ENSP00000441204:P74S	ENSP00000341206:P74S	P	+	1	0	CHST4	70128301	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	7.818000	0.86416	2.848000	0.98002	0.655000	0.94253	CCC		0.587	CHST4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268992.4	NM_005769		5	87	0	0	0	1	0	5	87					T	71570800	C	T	71570800	3	4	287	1	0	0	0	0	1	0	0	0	3406	739	26	3	222	3	CHST4	16	71570800	Missense_Mutation	SNP	C	TCGA-J9-A52D-01A-11D-A29Q-08	69277434	71570800	18783953	32	13861											
GAS2L2	246176	broad.mit.edu	37	chr17	34072175	34072175	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cctgtggtctctccggggccGaatcctgggtctcagcttca	4	11	12	14	2	3	0	2	0	2	0	7	1	5	0	4	4	1	1	4	4	1	1			TCGA-J9-A52D-01A-11D-A29Q-08	TCGA-J9-A52D-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e63c8077-ee5f-4ff5-a416-8f73b2675957	14d30fae-711c-4b77-a452-4fd8eb1c039c	g.chr17:34072175G>A	ENST00000254466.6	-	6	2368	c.2341C>T	c.(2341-2343)Cgg>Tgg	p.R781W	GAS2L2_ENST00000587565.1_Missense_Mutation_p.R765W	NM_139285.3	NP_644814.1	Q8NHY3	GA2L2_HUMAN	growth arrest-specific 2 like 2	781					cell cycle arrest (GO:0007050)|microtubule bundle formation (GO:0001578)|negative regulation of microtubule depolymerization (GO:0007026)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	actin filament binding (GO:0051015)|cytoskeletal adaptor activity (GO:0008093)|microtubule binding (GO:0008017)			central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		CTCCGGGGCCGAATCCTGGGT	0.612																																						ENST00000254466.6																			0				central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						c.(2341-2343)Cgg>Tgg		growth arrest-specific 2 like 2							87	93	91					17																	34072175		2203	4300	6503	SO:0001583	missense	246176				cell cycle arrest	cytoplasm|cytoskeleton		g.chr17:34072175G>A	AF508784	CCDS11298.1	17q21	2014-05-06			ENSG00000132139	ENSG00000270765			24846	protein-coding gene	gene with protein product		611398				12584248	Standard	NM_139285		Approved	GAR17	uc002hjv.2	Q8NHY3	OTTHUMG00000188386	ENST00000254466.6:c.2341C>T	17.37:g.34072175G>A	ENSP00000254466:p.Arg781Trp					GAS2L2_ENST00000587565.1_Missense_Mutation_p.R765W	p.R781W	NM_139285.3	NP_644814.1	Q8NHY3	GA2L2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)	6	2368	-		Ovarian(249;0.17)	781					Q8NHY4	Missense_Mutation	SNP	ENST00000254466.6	37	c.2341C>T	CCDS11298.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.286617	0.80803	.	.	ENSG00000132139	ENST00000254466	T	0.56444	0.46	4.69	4.69	0.59074	.	0.287526	0.29106	N	0.013135	T	0.63426	0.2510	L	0.36672	1.1	0.42855	D	0.994094	D	0.89917	1.0	D	0.70016	0.967	T	0.67635	-0.5620	10	0.87932	D	0	-20.3668	16.3676	0.83341	0.0:0.0:1.0:0.0	.	781	Q8NHY3	GA2L2_HUMAN	W	781	ENSP00000254466:R781W	ENSP00000254466:R781W	R	-	1	2	GAS2L2	31096288	1.000000	0.71417	0.959000	0.39883	0.985000	0.73830	4.659000	0.61504	2.460000	0.83146	0.561000	0.74099	CGG		0.612	GAS2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256497.1	NM_139285		4	139	0	0	0	1	0	4	139					A	34072175	G	A	34072175	3	1	287	1	0	0	0	0	1	0	0	0	6247	1057	37	2	305	2	GAS2L2	17	34072175	Missense_Mutation	SNP	G	TCGA-J9-A52D-01A-11D-A29Q-08		34072175	47123035	33	13862											
CNTNAP1	8506	broad.mit.edu	37	chr17	40837976	40837976	+	Splice_Site	DEL	C	C	-																															tgtcctgccccaccctcaggCagcagccctatccagccaag																										TCGA-J9-A52D-01A-11D-A29Q-08	TCGA-J9-A52D-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e63c8077-ee5f-4ff5-a416-8f73b2675957	14d30fae-711c-4b77-a452-4fd8eb1c039c	g.chr17:40837976delC	ENST00000264638.4	+	6	934	c.717delC	c.(715-717)ggc>gg	p.G239fs	CTD-3193K9.3_ENST00000592440.1_RNA|CCR10_ENST00000591765.1_5'Flank	NM_003632.2	NP_003623.1	P78357	CNTP1_HUMAN	contactin associated protein 1	239	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				axon cargo transport (GO:0008088)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cytoskeleton organization (GO:0007010)|neuromuscular process controlling balance (GO:0050885)|neuromuscular process controlling posture (GO:0050884)|neuron projection morphogenesis (GO:0048812)|neuronal action potential propagation (GO:0019227)|paranodal junction assembly (GO:0030913)|positive regulation of signal transduction (GO:0009967)|protein localization to paranode region of axon (GO:0002175)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|paranode region of axon (GO:0033270)|voltage-gated potassium channel complex (GO:0008076)	receptor activity (GO:0004872)|SH3 domain binding (GO:0017124)|SH3/SH2 adaptor activity (GO:0005070)			NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|lung(15)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.143)		CACCCTCAGGCAGCAGCCCTA	0.607																																						ENST00000264638.4																			0				NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|lung(15)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						c.e6-1		contactin associated protein 1							99	88	92					17																	40837976		2203	4300	6503	SO:0001630	splice_region_variant	8506				axon guidance|cell adhesion	paranode region of axon	receptor activity|receptor binding|SH3 domain binding|SH3/SH2 adaptor activity	g.chr17:40837976delC	U87223	CCDS11436.1	17q21	2008-07-18				ENSG00000108797			8011	protein-coding gene	gene with protein product	"neurexin 4"	602346		NRXN4		9118959	Standard	NM_003632		Approved	p190, Caspr, CNTNAP	uc002iay.3	P78357		ENST00000264638.4:c.716-1C>-	17.37:g.40837976delC						CTD-3193K9.3_ENST00000592440.1_RNA	p.G239_splice	NM_003632.2	NP_003623.1	P78357	CNTP1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.143)	6	934	+		Breast(137;0.000143)	239			Laminin G-like 1.			Splice_Site	DEL	ENST00000264638.4	37	c.715_splice	CCDS11436.1																																																																																				0.607	CNTNAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452342.1	NM_003632	Frame_Shift_Del	49	68						49	68	---	---	---	---	-	40837976	C	-	40837976	8	5	287	1	0	1	0	1	0	0	1	0	3646	724	25	0	739	0	CNTNAP1	17	40837976	Splice_Site	DEL	C	TCGA-J9-A52D-01A-11D-A29Q-08	6765801	40837976	40357234	34	13863											
SLC4A1	6521	broad.mit.edu	37	chr17	42328795	42328795	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agggtcctgtacccgcttgaCgtagggcacatctgggtgat	7	10	14	10	2	1	2	0	2	1	0	2	2	2	2	2	3	1	4	2	3	2	3			TCGA-J9-A52D-01A-11D-A29Q-08	TCGA-J9-A52D-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e63c8077-ee5f-4ff5-a416-8f73b2675957	14d30fae-711c-4b77-a452-4fd8eb1c039c	g.chr17:42328795C>T	ENST00000262418.6	-	18	2628	c.2473G>A	c.(2473-2475)Gtc>Atc	p.V825I	AC003102.1_ENST00000399246.2_5'Flank	NM_000342.3	NP_000333.1	P02730	B3AT_HUMAN	solute carrier family 4 (anion exchanger), member 1 (Diego blood group)	825	Membrane (anion exchange).				anion transport (GO:0006820)|bicarbonate transport (GO:0015701)|cellular ion homeostasis (GO:0006873)|chloride transport (GO:0006821)|ion transport (GO:0006811)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|blood microparticle (GO:0072562)|cortical cytoskeleton (GO:0030863)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|Z disc (GO:0030018)	anion transmembrane transporter activity (GO:0008509)|anion:anion antiporter activity (GO:0015301)|ankyrin binding (GO:0030506)|bicarbonate transmembrane transporter activity (GO:0015106)|chloride transmembrane transporter activity (GO:0015108)|inorganic anion exchanger activity (GO:0005452)|protein anchor (GO:0043495)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	40		Breast(137;0.014)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.115)		ACCCGCTTGACGTAGGGCACA	0.602																																						ENST00000262418.6																			0				central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	40						c.(2473-2475)Gtc>Atc		solute carrier family 4 (anion exchanger), member 1							107	97	101					17																	42328795		2203	4300	6503	SO:0001583	missense	6521				bicarbonate transport|cellular ion homeostasis	basolateral plasma membrane|cortical cytoskeleton|integral to plasma membrane|Z disc	ankyrin binding|chloride transmembrane transporter activity|inorganic anion exchanger activity|protein anchor|protein homodimerization activity	g.chr17:42328795C>T		CCDS11481.1	17q21.31	2014-07-19	2014-01-02		ENSG00000004939	ENSG00000004939		"CD molecules", "Blood group antigens", "Solute carriers"	11027	protein-coding gene	gene with protein product	"Froese blood group", "Swann blood group", "Wright blood group"	109270	"Waldner blood group", "erythrocyte membrane protein band 3", "Diego blood group", "solute carrier family 4, anion exchanger, member 1 (erythrocyte membrane protein band 3, Diego blood group)", "solute carrier family 4 (anion exchanger), member 1"	EPB3, AE1, DI, WD		8434259	Standard	NM_000342		Approved	RTA1A, CD233, FR, SW, WR	uc002igf.4	P02730	OTTHUMG00000156843	ENST00000262418.6:c.2473G>A	17.37:g.42328795C>T	ENSP00000262418:p.Val825Ile						p.V825I	NM_000342.3	NP_000333.1	P02730	B3AT_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.115)	18	2628	-		Breast(137;0.014)|Prostate(33;0.0181)	825			Membrane (anion exchange).		G4V2I6|P78487|Q1ZZ45|Q4KKW9|Q4VB84|Q9UCY7|Q9UDJ1	Missense_Mutation	SNP	ENST00000262418.6	37	c.2473G>A	CCDS11481.1	.	.	.	.	.	.	.	.	.	.	C	28.4	4.920149	0.92249	.	.	ENSG00000004939	ENST00000262418	T	0.80214	-1.35	5.22	5.22	0.72569	Bicarbonate transporter, C-terminal (1);	0.199325	0.42964	D	0.000636	T	0.81725	0.4883	L	0.54323	1.7	0.80722	D	1	P	0.49447	0.924	P	0.46208	0.507	D	0.83921	0.0301	10	0.62326	D	0.03	.	18.7637	0.91864	0.0:1.0:0.0:0.0	.	825	P02730	B3AT_HUMAN	I	825	ENSP00000262418:V825I	ENSP00000262418:V825I	V	-	1	0	SLC4A1	39684321	1.000000	0.71417	0.999000	0.59377	0.988000	0.76386	5.956000	0.70315	2.579000	0.87056	0.561000	0.74099	GTC		0.602	SLC4A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346194.1	NM_000342		31	56	0	0	0	1	0	31	56					T	42328795	C	T	42328795	3	4	287	1	0	0	0	0	1	0	0	0	14650	536	19	1	274	1	SLC4A1	17	42328795	Missense_Mutation	SNP	C	TCGA-J9-A52D-01A-11D-A29Q-08	1490819	42328795	38866415	35	13864											
SPOP	8405	broad.mit.edu	37	chr17	47696426	47696426	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tctacggatgaatttcttgaAtccccagtctttgccttgca	8	15	7	11	1	3	2	0	2	3	0	4	3	4	3	3	1	3	1	3	1	3	5			TCGA-J9-A52D-01A-11D-A29Q-08	TCGA-J9-A52D-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e63c8077-ee5f-4ff5-a416-8f73b2675957	14d30fae-711c-4b77-a452-4fd8eb1c039c	g.chr17:47696426A>T	ENST00000393328.2	-	6	762	c.397T>A	c.(397-399)Ttc>Atc	p.F133I	SPOP_ENST00000347630.2_Missense_Mutation_p.F133I|SPOP_ENST00000503676.1_Missense_Mutation_p.F133I|SPOP_ENST00000393331.3_Missense_Mutation_p.F133I|SPOP_ENST00000513080.1_5'Flank|SPOP_ENST00000504102.1_Missense_Mutation_p.F133I	NM_003563.3	NP_003554.1	O43791	SPOP_HUMAN	speckle-type POZ protein	133	Important for binding substrate proteins.|MATH. {ECO:0000255|PROSITE- ProRule:PRU00129}.|Required for nuclear localization.				glucose homeostasis (GO:0042593)|positive regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902237)|positive regulation of type B pancreatic cell apoptotic process (GO:2000676)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	Cul3-RING ubiquitin ligase complex (GO:0031463)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	ubiquitin protein ligase binding (GO:0031625)	p.F133V(4)		endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						AATTTCTTGAATCCCCAGTCT	0.448										Prostate(2;0.17)																												ENST00000393331.3																			4	Substitution - Missense(4)	p.F133V(4)	prostate(4)	endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						c.(397-399)Ttc>Atc		speckle-type POZ protein							119	121	120					17																	47696426		2203	4300	6503	SO:0001583	missense	8405				mRNA processing	nucleus	protein binding	g.chr17:47696426A>T	AJ000644	CCDS11551.1	17q21.33	2013-01-09			ENSG00000121067	ENSG00000121067		"BTB/POZ domain containing"	11254	protein-coding gene	gene with protein product		602650				9414087	Standard	NM_001007227		Approved	TEF2, BTBD32	uc002ipg.3	O43791	OTTHUMG00000161496	ENST00000393328.2:c.397T>A	17.37:g.47696426A>T	ENSP00000377001:p.Phe133Ile	Prostate(2;0.17)				SPOP_ENST00000393328.2_Missense_Mutation_p.F133I|SPOP_ENST00000503676.1_Missense_Mutation_p.F133I|SPOP_ENST00000347630.2_Missense_Mutation_p.F133I|SPOP_ENST00000504102.1_Missense_Mutation_p.F133I	p.F133I	NM_001007226.1|NM_001007227.1	NP_001007227.1|NP_001007228.1	O43791	SPOP_HUMAN			7	867	-			133			MATH.|Required for nuclear localization.		B2R6S3|D3DTW7|Q53HJ1	Missense_Mutation	SNP	ENST00000393328.2	37	c.397T>A	CCDS11551.1	.	.	.	.	.	.	.	.	.	.	A	28.6	4.932698	0.92458	.	.	ENSG00000121067	ENST00000393328;ENST00000393331;ENST00000347630;ENST00000504102;ENST00000503536;ENST00000503676;ENST00000513872;ENST00000509079;ENST00000505581;ENST00000507970;ENST00000514121	T;T;T;T;T;T;T;T;T	0.42900	0.96;0.96;0.96;0.96;0.96;0.96;0.96;0.96;0.96	5.41	5.41	0.78517	TRAF-type (1);TRAF-like (1);MATH (3);	0.000000	0.85682	D	0.000000	T	0.60314	0.2259	M	0.88181	2.935	0.80722	D	1	P	0.41475	0.751	P	0.47206	0.541	T	0.68697	-0.5340	10	0.72032	D	0.01	-9.6576	15.258	0.73599	1.0:0.0:0.0:0.0	.	133	O43791	SPOP_HUMAN	I	133;133;133;133;17;133;86;133;133;133;133	ENSP00000377001:F133I;ENSP00000377004:F133I;ENSP00000240327:F133I;ENSP00000425905:F133I;ENSP00000420908:F133I;ENSP00000426986:F133I;ENSP00000420960:F133I;ENSP00000426262:F133I;ENSP00000424119:F133I	ENSP00000240327:F133I	F	-	1	0	SPOP	45051425	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.131000	0.94446	2.261000	0.74972	0.460000	0.39030	TTC		0.448	SPOP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365154.2	NM_003563		57	68	0	0	0	1	0	57	68					T	47696426	A	T	47696426	3	4	287	1	0	0	0	0	1	0	0	0	15083	101	4	5	751	5	SPOP	17	47696426	Missense_Mutation	SNP	A	TCGA-J9-A52D-01A-11D-A29Q-08	5367631	47696426	33498784	36	13865											
DNAH17	8632	broad.mit.edu	37	chr17	76472714	76472714	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatgtttcctggtctttttcGtcaaccattttgtcaccata	8	18	5	10	1	3	0	2	0	1	0	5	0	4	0	3	1	1	1	3	1	3	6	rs189793617	byFrequency	TCGA-J9-A52D-01A-11D-A29Q-08	TCGA-J9-A52D-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e63c8077-ee5f-4ff5-a416-8f73b2675957	14d30fae-711c-4b77-a452-4fd8eb1c039c	g.chr17:76472714G>A	ENST00000585328.1	-	52	8203	c.8079C>T	c.(8077-8079)gaC>gaT	p.D2693D	DNAH17_ENST00000389840.5_Silent_p.D2684D|DNAH17_ENST00000586052.1_Intron	NM_173628.3	NP_775899.3	Q9UFH2	DYH17_HUMAN	dynein, axonemal, heavy chain 17	2684					cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.D2693D(1)		NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			GGTCTTTTTCGTCAACCATTT	0.488													G|||	2	0.000399361	0	0.0029	5008	,	,		20875	0		0	False		,,,				2504	0					ENST00000389840.5																			1	Substitution - coding silent(1)	p.D2693D(1)	central_nervous_system(1)	NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116						c.(8050-8052)gaC>gaT		dynein, axonemal, heavy chain 17							158	179	172					17																	76472714		2015	4178	6193	SO:0001819	synonymous_variant	8632							g.chr17:76472714G>A	AJ000522		17q25.3	2012-04-19	2006-09-04		ENSG00000187775	ENSG00000187775		"Axonemal dyneins"	2946	protein-coding gene	gene with protein product		610063	"dynein, axonemal, heavy polypeptide 17", "dynein, axonemal, heavy chain like 1", "dynein, axonemal, heavy like 1"	DNAHL1		9545504	Standard	NM_173628		Approved	DNEL2, FLJ40457	uc010dhp.2	Q9UFH2		ENST00000585328.1:c.8079C>T	17.37:g.76472714G>A						DNAH17_ENST00000585328.1_Silent_p.D2693D|DNAH17_ENST00000586052.1_Intron	p.D2684D					BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)		52	8176	-								O00431|O15206|Q2M2Y1|Q6ZRQ2|Q8N7Q7	Silent	SNP	ENST00000585328.1	37	c.8052C>T																																																																																					0.488	DNAH17-001	PUTATIVE	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000318962.2	NM_173628		11	12	0	0	0	1	0	11	12					A	76472714	G	A	76472714	2	1	287	1	0	0	0	0	0	0	0	1	4601	1136	40	1		1	DNAH17	17	76472714	Silent	SNP	G	TCGA-J9-A52D-01A-11D-A29Q-08	28776288	76472714	4722496	37	13866											
DNAH17	8632	broad.mit.edu	37	chr17	76566365	76566365	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgcagaactcctgcaggatGacgatgatcctggcaggtgt	9	10	13	9	1	0	3	0	2	0	1	2	5	2	4	2	3	3	3	2	3	1	1			TCGA-J9-A52D-01A-11D-A29Q-08	TCGA-J9-A52D-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e63c8077-ee5f-4ff5-a416-8f73b2675957	14d30fae-711c-4b77-a452-4fd8eb1c039c	g.chr17:76566365G>T	ENST00000585328.1	-	7	1132	c.1008C>A	c.(1006-1008)gtC>gtA	p.V336V	DNAH17_ENST00000389840.5_Silent_p.V336V	NM_173628.3	NP_775899.3	Q9UFH2	DYH17_HUMAN	dynein, axonemal, heavy chain 17	336	Stem. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			CCTGCAGGATGACGATGATCC	0.597																																						ENST00000389840.5																			0				NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116						c.(1006-1008)gtC>gtA		dynein, axonemal, heavy chain 17							65	51	56					17																	76566365		2203	4299	6502	SO:0001819	synonymous_variant	8632							g.chr17:76566365G>T	AJ000522		17q25.3	2012-04-19	2006-09-04		ENSG00000187775	ENSG00000187775		"Axonemal dyneins"	2946	protein-coding gene	gene with protein product		610063	"dynein, axonemal, heavy polypeptide 17", "dynein, axonemal, heavy chain like 1", "dynein, axonemal, heavy like 1"	DNAHL1		9545504	Standard	NM_173628		Approved	DNEL2, FLJ40457	uc010dhp.2	Q9UFH2		ENST00000585328.1:c.1008C>A	17.37:g.76566365G>T						DNAH17_ENST00000585328.1_Silent_p.V336V	p.V336V					BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)		7	1132	-								O00431|O15206|Q2M2Y1|Q6ZRQ2|Q8N7Q7	Silent	SNP	ENST00000585328.1	37	c.1008C>A																																																																																					0.597	DNAH17-001	PUTATIVE	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000318962.2	NM_173628		9	10	1	0	5.4927e-09	1	6.04197e-09	9	10					T	76566365	G	T	76566365	2	4	287	1	0	0	0	0	0	0	0	1	4601	1277	45	5		5	DNAH17	17	76566365	Silent	SNP	G	TCGA-J9-A52D-01A-11D-A29Q-08	93651	76566365	4628845	38	13867											
ANKRD30B	374860	broad.mit.edu	37	chr18	14850347	14850347	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gactctcagaatacaagataTagaattgaaaagtgtaacaa	20	9	7	5	0	1	4	1	1	1	3	2	5	1	4	0	0	2	1	0	0	10	5			TCGA-J9-A52D-01A-11D-A29Q-08	TCGA-J9-A52D-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e63c8077-ee5f-4ff5-a416-8f73b2675957	14d30fae-711c-4b77-a452-4fd8eb1c039c	g.chr18:14850347T>C	ENST00000358984.4	+	35	3353	c.3173T>C	c.(3172-3174)aTa>aCa	p.I1058T		NM_001145029.1	NP_001138501.1	Q9BXX2	AN30B_HUMAN	ankyrin repeat domain 30B	1058										breast(3)|endometrium(4)|kidney(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	22						ATACAAGATATAGAATTGAAA	0.279																																						ENST00000358984.4																			0				breast(3)|endometrium(4)|kidney(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	22						c.(3172-3174)aTa>aCa		ankyrin repeat domain 30B							57	53	54					18																	14850347		692	1578	2270	SO:0001583	missense	374860							g.chr18:14850347T>C	BC028407	CCDS54182.1	18p11.21	2013-01-10			ENSG00000180777	ENSG00000180777		"Ankyrin repeat domain containing"	24165	protein-coding gene	gene with protein product						11280766	Standard	NM_001145029		Approved	NY-BR-1.1	uc010dlo.2	Q9BXX2		ENST00000358984.4:c.3173T>C	18.37:g.14850347T>C	ENSP00000351875:p.Ile1058Thr						p.I1058T	NM_001145029.1	NP_001138501.1	Q9BXX2	AN30B_HUMAN			35	3353	+			1143					B4DGP1|F8WAG3|Q4G175	Missense_Mutation	SNP	ENST00000358984.4	37	c.3173T>C	CCDS54182.1	.	.	.	.	.	.	.	.	.	.	T	3.439	-0.114450	0.06881	.	.	ENSG00000180777	ENST00000358984;ENST00000320584;ENST00000277669	T	0.15718	2.4	1.48	-2.5	0.06384	.	.	.	.	.	T	0.11922	0.0290	L	0.40543	1.245	0.09310	N	1	B;B	0.09022	0.0;0.002	B;B	0.04013	0.0;0.001	T	0.29549	-1.0008	9	0.38643	T	0.18	.	6.1629	0.20373	0.0:0.4731:0.0:0.5269	.	1143;1058	Q9BXX2;F8WAG3	AN30B_HUMAN;.	T	1058;452;478	ENSP00000351875:I1058T	ENSP00000277669:I478T	I	+	2	0	ANKRD30B	14840347	0.034000	0.19679	0.000000	0.03702	0.066000	0.16364	1.175000	0.31944	-0.719000	0.04942	0.145000	0.16022	ATA		0.279	ANKRD30B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000443557.1	NM_001145029		3	8	0	0	0	1	0	3	8					C	14850347	T	C	14850347	3	2	287	1	0	0	0	0	1	0	0	0	659	1406	49	4	3311	4	ANKRD30B	18	14850347	Missense_Mutation	SNP	T	TCGA-J9-A52D-01A-11D-A29Q-08		14850347	63226901	39	13868											
RTTN	25914	broad.mit.edu	37	chr18	67844063	67844063	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ttctccaagggctcccaacaCcaggagtagtttctccttct	8	12	7	14	0	3	0	0	0	3	0	6	1	4	1	4	2	1	3	4	2	3	4			TCGA-J9-A52D-01A-11D-A29Q-08	TCGA-J9-A52D-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e63c8077-ee5f-4ff5-a416-8f73b2675957	14d30fae-711c-4b77-a452-4fd8eb1c039c	g.chr18:67844063C>T	ENST00000255674.6	-	11	1610	c.1324G>A	c.(1324-1326)Gtg>Atg	p.V442M	RTTN_ENST00000454359.1_Missense_Mutation_p.V442M|RTTN_ENST00000437017.1_Missense_Mutation_p.V442M	NM_173630.3	NP_775901.3	Q86VV8	RTTN_HUMAN	rotatin	442					determination of left/right symmetry (GO:0007368)	ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)				NS(1)|breast(3)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(35)|ovary(4)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Esophageal squamous(42;0.129)				GCTCCCAACACCAGGAGTAGT	0.428																																						ENST00000255674.6																			0				NS(1)|breast(3)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(35)|ovary(4)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	80						c.(1324-1326)Gtg>Atg		rotatin							123	120	121					18																	67844063		1868	4104	5972	SO:0001583	missense	25914						binding	g.chr18:67844063C>T	AL117635	CCDS42443.1	18q22.1	2008-08-01				ENSG00000176225			18654	protein-coding gene	gene with protein product		610436				11900971	Standard	NM_173630		Approved	DKFZP434G145	uc002lkp.2	Q86VV8		ENST00000255674.6:c.1324G>A	18.37:g.67844063C>T	ENSP00000255674:p.Val442Met					RTTN_ENST00000437017.1_Missense_Mutation_p.V442M|RTTN_ENST00000454359.1_Missense_Mutation_p.V442M	p.V442M	NM_173630.3	NP_775901.3	Q86VV8	RTTN_HUMAN			11	1610	-		Esophageal squamous(42;0.129)	442					Q68CS9|Q6ZRL8|Q6ZTK3|Q86TG4|Q8N8N8|Q8TBQ4|Q96IN9|Q9UFJ4	Missense_Mutation	SNP	ENST00000255674.6	37	c.1324G>A	CCDS42443.1	.	.	.	.	.	.	.	.	.	.	C	8.506	0.865413	0.17250	.	.	ENSG00000176225	ENST00000255674;ENST00000454359;ENST00000437017	T;T;T	0.65732	0.41;-0.17;-0.17	5.31	3.46	0.39613	Armadillo-type fold (1);	0.299142	0.33346	N	0.005003	T	0.63295	0.2499	L	0.60455	1.87	0.09310	N	0.999996	P;P	0.49783	0.928;0.905	P;P	0.49922	0.626;0.581	T	0.56829	-0.7914	10	0.62326	D	0.03	.	8.3203	0.32126	0.0:0.7482:0.0:0.2518	.	442;442	Q86VV8-2;Q86VV8	.;RTTN_HUMAN	M	442	ENSP00000255674:V442M;ENSP00000402352:V442M;ENSP00000399520:V442M	ENSP00000255674:V442M	V	-	1	0	RTTN	65995043	0.097000	0.21791	0.264000	0.24511	0.928000	0.56348	1.086000	0.30853	0.554000	0.29061	0.544000	0.68410	GTG		0.428	RTTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442988.1	NM_173630		9	102	0	0	0	1	0	9	102					T	67844063	C	T	67844063	3	4	287	1	0	0	0	0	1	0	0	0	13737	507	18	3	5512	3	RTTN	18	67844063	Missense_Mutation	SNP	C	TCGA-J9-A52D-01A-11D-A29Q-08	52993716	67844063	10233185	40	13869											
EBI3	10148	broad.mit.edu	37	chr19	4236975	4236975	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccttcatcctcagggctgtgCggccccgagccaggtactac	6	8	11	16	2	2	0	2	0	0	0	3	1	3	0	5	3	4	2	5	3	2	3	rs182560914		TCGA-J9-A52D-01A-11D-A29Q-08	TCGA-J9-A52D-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e63c8077-ee5f-4ff5-a416-8f73b2675957	14d30fae-711c-4b77-a452-4fd8eb1c039c	g.chr19:4236975C>T	ENST00000221847.5	+	5	633	c.580C>T	c.(580-582)Cgg>Tgg	p.R194W		NM_005755.2	NP_005746.2	Q14213	IL27B_HUMAN	Epstein-Barr virus induced 3	194	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cytokine-mediated signaling pathway (GO:0019221)|humoral immune response (GO:0006959)|positive regulation of alpha-beta T cell proliferation (GO:0046641)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|T-helper 1 type immune response (GO:0042088)	extracellular space (GO:0005615)|plasma membrane (GO:0005886)	cytokine receptor activity (GO:0004896)			large_intestine(1)|lung(2)|ovary(1)|urinary_tract(1)	5		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0336)|STAD - Stomach adenocarcinoma(1328;0.18)		CAGGGCTGTGCGGCCCCGAGC	0.607													C|||	1	0.000199681	0	0	5008	,	,		14648	0		0.001	False		,,,				2504	0					ENST00000221847.5																			0				large_intestine(1)|lung(2)|ovary(1)|urinary_tract(1)	5						c.(580-582)Cgg>Tgg		Epstein-Barr virus induced 3							58	57	57					19																	4236975		2203	4300	6503	SO:0001583	missense	10148				humoral immune response|positive regulation of alpha-beta T cell proliferation|positive regulation of interferon-gamma biosynthetic process|T-helper 1 type immune response	extracellular space|plasma membrane	cytokine activity|cytokine receptor activity	g.chr19:4236975C>T	L08187	CCDS12123.1	19p13	2013-02-11	2008-09-12		ENSG00000105246	ENSG00000105246		"Fibronectin type III domain containing"	3129	protein-coding gene	gene with protein product	"IL27 subunit", "IL35 subunit"	605816				8551575	Standard	NM_005755		Approved		uc002lzu.3	Q14213		ENST00000221847.5:c.580C>T	19.37:g.4236975C>T	ENSP00000221847:p.Arg194Trp						p.R194W	NM_005755.2	NP_005746.2	Q14213	IL27B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0336)|STAD - Stomach adenocarcinoma(1328;0.18)	5	633	+		Hepatocellular(1079;0.137)	194			Fibronectin type-III 2.		A0N0N2|O75269	Missense_Mutation	SNP	ENST00000221847.5	37	c.580C>T	CCDS12123.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	12.49	1.954193	0.34471	.	.	ENSG00000105246	ENST00000221847	T	0.59502	0.26	5.41	-0.774	0.10991	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.861076	0.10217	N	0.701413	T	0.47544	0.1451	L	0.54323	1.7	0.09310	N	1	B	0.26147	0.143	B	0.20577	0.03	T	0.36939	-0.9727	10	0.40728	T	0.16	-21.3836	7.7652	0.28976	0.4553:0.4575:0.0:0.0872	.	194	Q14213	IL27B_HUMAN	W	194	ENSP00000221847:R194W	ENSP00000221847:R194W	R	+	1	2	EBI3	4187975	0.000000	0.05858	0.002000	0.10522	0.035000	0.12851	-0.061000	0.11693	-0.095000	0.12351	0.650000	0.86243	CGG		0.607	EBI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458005.1			3	57	0	0	0	1	0	3	57					T	4236975	C	T	4236975	3	4	287	1	0	0	0	0	1	0	0	0	4883	759	27	1	598	1	EBI3	19	4236975	Missense_Mutation	SNP	C	TCGA-J9-A52D-01A-11D-A29Q-08		4236975	54892008	41	13870											
DUS3L	56931	broad.mit.edu	37	chr19	5789637	5789637	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggtctcgaagagcacgcagcGggggcccaggtcggccggct	6	4	18	13	5	1	1	0	0	1	1	3	2	1	1	2	6	2	3	2	6	1	0			TCGA-J9-A52D-01A-11D-A29Q-08	TCGA-J9-A52D-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e63c8077-ee5f-4ff5-a416-8f73b2675957	14d30fae-711c-4b77-a452-4fd8eb1c039c	g.chr19:5789637G>A	ENST00000309061.7	-	3	577	c.481C>T	c.(481-483)Cgc>Tgc	p.R161C	DUS3L_ENST00000320699.8_Intron|DUS3L_ENST00000590681.1_5'UTR	NM_020175.2	NP_064560.2	Q96G46	DUS3L_HUMAN	dihydrouridine synthase 3-like (S. cerevisiae)	161							flavin adenine dinucleotide binding (GO:0050660)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|tRNA dihydrouridine synthase activity (GO:0017150)			endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(2)	14						AGCACGCAGCGGGGGCCCAGG	0.682																																						ENST00000309061.7																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(2)	14						c.(481-483)Cgc>Tgc		dihydrouridine synthase 3-like (S. cerevisiae)							9	16	13					19																	5789637		2126	4239	6365	SO:0001583	missense	56931				tRNA processing		flavin adenine dinucleotide binding|nucleic acid binding|tRNA dihydrouridine synthase activity|zinc ion binding	g.chr19:5789637G>A		CCDS32880.1, CCDS54202.1	19p13.3	2014-02-12			ENSG00000141994	ENSG00000141994			26920	protein-coding gene	gene with protein product						12477932	Standard	NM_020175		Approved	DUS3, FLJ13896	uc002mdc.3	Q96G46	OTTHUMG00000162311	ENST00000309061.7:c.481C>T	19.37:g.5789637G>A	ENSP00000311977:p.Arg161Cys					DUS3L_ENST00000590681.1_5'UTR|DUS3L_ENST00000320699.8_Intron	p.R161C	NM_020175.2	NP_064560.2	Q96G46	DUS3L_HUMAN			3	577	-			161					Q96HM5|Q9BSU4|Q9H877|Q9NPR1	Missense_Mutation	SNP	ENST00000309061.7	37	c.481C>T	CCDS32880.1	.	.	.	.	.	.	.	.	.	.	G	12.08	1.829882	0.32329	.	.	ENSG00000141994	ENST00000309061	T	0.18502	2.21	4.72	-2.11	0.07187	Zinc finger, CCCH-type (1);	0.578882	0.17583	N	0.169047	T	0.11024	0.0269	L	0.39898	1.24	0.24361	N	0.994876	B	0.12013	0.005	B	0.11329	0.006	T	0.17623	-1.0363	10	0.56958	D	0.05	-29.1506	4.8683	0.13620	0.2183:0.0:0.2134:0.5682	.	161	Q96G46	DUS3L_HUMAN	C	161	ENSP00000311977:R161C	ENSP00000311977:R161C	R	-	1	0	DUS3L	5740637	0.000000	0.05858	0.978000	0.43139	0.407000	0.30961	-0.067000	0.11579	-0.253000	0.09514	0.491000	0.48974	CGC		0.682	DUS3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451870.2	NM_020175		7	7	0	0	0	1	0	7	7					A	5789637	G	A	5789637	3	1	287	1	0	0	0	0	1	0	0	0	4807	1116	39	2	1515	2	DUS3L	19	5789637	Missense_Mutation	SNP	G	TCGA-J9-A52D-01A-11D-A29Q-08	1552662	5789637	53339346	42	13871											
CYP2A6	1548	broad.mit.edu	37	chr19	41350562	41350562	+	Frame_Shift_Del	DEL	C	C	-																															aaaagggcacaaaagcatcaCtcttcttaaactgccccttc																										TCGA-J9-A52D-01A-11D-A29Q-08	TCGA-J9-A52D-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e63c8077-ee5f-4ff5-a416-8f73b2675957	14d30fae-711c-4b77-a452-4fd8eb1c039c	g.chr19:41350562delC	ENST00000301141.5	-	8	1297	c.1277delG	c.(1276-1278)agtfs	p.S426fs	CTC-490E21.12_ENST00000601627.1_Intron	NM_000762.5	NP_000753	P11509	CP2A6_HUMAN	cytochrome P450, family 2, subfamily A, polypeptide 6	426					coumarin catabolic process (GO:0046226)|coumarin metabolic process (GO:0009804)|drug metabolic process (GO:0017144)|exogenous drug catabolic process (GO:0042738)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|xenobiotic metabolic process (GO:0006805)	cytoplasmic microtubule (GO:0005881)|endoplasmic reticulum membrane (GO:0005789)	coumarin 7-hydroxylase activity (GO:0008389)|enzyme binding (GO:0019899)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen (GO:0016712)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(2)	37			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)		Acetaminophen(DB00316)|Amiodarone(DB01118)|Amlodipine(DB00381)|Amobarbital(DB01351)|Amphetamine(DB00182)|Antipyrine(DB01435)|Arformoterol(DB01274)|Azelastine(DB00972)|Azithromycin(DB00207)|Buprenorphine(DB00921)|Bupropion(DB01156)|Chlorzoxazone(DB00356)|Cinnarizine(DB00568)|Cisapride(DB00604)|Clofibrate(DB00636)|Clomifene(DB00882)|Clotrimazole(DB00257)|Clozapine(DB00363)|Cyclophosphamide(DB00531)|Dapagliflozin(DB06292)|Desipramine(DB01151)|Dexamethasone(DB01234)|Dexfenfluramine(DB01191)|Diethylstilbestrol(DB00255)|Dronabinol(DB00470)|Eletriptan(DB00216)|Ezogabine(DB04953)|Flunarizine(DB04841)|Flunitrazepam(DB01544)|Fluorouracil(DB00544)|Flurazepam(DB00690)|Fomepizole(DB01213)|Formoterol(DB00983)|Halothane(DB01159)|Ifosfamide(DB01181)|Isoniazid(DB00951)|Ketoconazole(DB01026)|Letrozole(DB01006)|Lidocaine(DB00281)|Lorcaserin(DB04871)|Memantine(DB01043)|Menadione(DB00170)|Methimazole(DB00763)|Methoxsalen(DB00553)|Methoxyflurane(DB01028)|Metyrapone(DB01011)|Miconazole(DB01110)|Montelukast(DB00471)|Nevirapine(DB00238)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Norfloxacin(DB01059)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Pilocarpine(DB01085)|Prednisolone(DB00860)|Progesterone(DB00396)|Propofol(DB00818)|Rifampicin(DB01045)|Rosiglitazone(DB00412)|Selegiline(DB01037)|Sevoflurane(DB01236)|Sulfaphenazole(DB06729)|Tamoxifen(DB00675)|Tranylcypromine(DB00752)|Tretinoin(DB00755)|Troleandomycin(DB01361)|Valproic Acid(DB00313)|Zidovudine(DB00495)	AAAAGCATCACTCTTCTTAAA	0.567																																						ENST00000301141.5																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(2)	37						c.(1276-1278)atfs		cytochrome P450, family 2, subfamily A, polypeptide 6	Chlorzoxazone(DB00356)|Diethylstilbestrol(DB00255)|Estradiol(DB00783)|Ethinyl Estradiol(DB00977)|Formoterol(DB00983)|Halothane(DB01159)|Letrozole(DB01006)|Methoxsalen(DB00553)|Metyrapone(DB01011)|Nicotine(DB00184)|Pilocarpine(DB01085)|Tolbutamide(DB01124)|Tranylcypromine(DB00752)						161	149	153					19																	41350562		2203	4300	6503	SO:0001589	frameshift_variant	1548				coumarin catabolic process|exogenous drug catabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|coumarin 7-hydroxylase activity|electron carrier activity|enzyme binding|heme binding	g.chr19:41350562delC	AF182275	CCDS12568.1	19q13.2	2013-11-11	2003-01-14		ENSG00000255974	ENSG00000255974		"Cytochrome P450s"	2610	protein-coding gene	gene with protein product		122720	"cytochrome P450, subfamily IIA (phenobarbital-inducible), polypeptide 6"	CYP2A3		7668294, 2748347	Standard	NM_000762		Approved	CPA6, CYP2A	uc002opl.4	P11509	OTTHUMG00000182713	ENST00000301141.5:c.1277delG	19.37:g.41350562delC	ENSP00000301141:p.Ser426fs					CTC-490E21.12_ENST00000601627.1_Intron	p.S426fs	NM_000762.5	NP_000753.3	P11509	CP2A6_HUMAN	LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)		8	1297	-			426					A7YAE5|B2R7F6|P00190|P10890|Q16803|Q4VAT9|Q4VAU0|Q4VAU1|Q9H1Z7|Q9UCU0|Q9UK48	Frame_Shift_Del	DEL	ENST00000301141.5	37	c.1277delG	CCDS12568.1																																																																																				0.567	CYP2A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463259.1	NM_000762		86	68						86	68	---	---	---	---	-	41350562	C	-	41350562	7	5	287	1	0	1	0	1	0	0	0	0	4162	565	20	0	215	0	CYP2A6	19	41350562	Frame_Shift_Del	DEL	C	TCGA-J9-A52D-01A-11D-A29Q-08	35560925	41350562	17778421	43	13872											
ZNF233	353355	broad.mit.edu	37	chr19	44778000	44778000	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgtagacagtgctggagagaGagcctgtaaatgtgatgtat	12	11	14	4	0	0	4	0	1	0	3	0	6	0	4	1	1	2	4	1	1	4	3			TCGA-J9-A52D-01A-11D-A29Q-08	TCGA-J9-A52D-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e63c8077-ee5f-4ff5-a416-8f73b2675957	14d30fae-711c-4b77-a452-4fd8eb1c039c	g.chr19:44778000G>C	ENST00000391958.2	+	5	1314	c.1187G>C	c.(1186-1188)aGa>aCa	p.R396T	ZNF233_ENST00000592581.1_3'UTR|ZNF233_ENST00000334152.1_Missense_Mutation_p.R378T|ZNF235_ENST00000589799.1_Intron	NM_181756.2	NP_861421.2	A6NK53	ZN233_HUMAN	zinc finger protein 233	396					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(4)|skin(3)|urinary_tract(1)	20		Prostate(69;0.0435)|all_neural(266;0.226)				GCTGGAGAGAGAGCCTGTAAA	0.448																																						ENST00000391958.2																			0				breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(4)|skin(3)|urinary_tract(1)	20						c.(1186-1188)aGa>aCa		zinc finger protein 233							90	89	90					19																	44778000		2203	4300	6503	SO:0001583	missense	353355				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44778000G>C	AY166792	CCDS33047.1	19q13.31	2013-01-08				ENSG00000159915		"Zinc fingers, C2H2-type", "-"	30946	protein-coding gene	gene with protein product						12743021	Standard	NM_001207005		Approved	FLJ38032	uc021uvi.1	A6NK53		ENST00000391958.2:c.1187G>C	19.37:g.44778000G>C	ENSP00000375820:p.Arg396Thr					ZNF233_ENST00000334152.1_Missense_Mutation_p.R378T|ZNF235_ENST00000589799.1_Intron|ZNF233_ENST00000592581.1_3'UTR	p.R396T	NM_181756.2	NP_861421.2	A6NK53	ZN233_HUMAN			5	1314	+		Prostate(69;0.0435)|all_neural(266;0.226)	396					B2RN78|B2RN79|Q86WL8	Missense_Mutation	SNP	ENST00000391958.2	37	c.1187G>C	CCDS33047.1	.	.	.	.	.	.	.	.	.	.	G	12.29	1.892329	0.33442	.	.	ENSG00000159915	ENST00000334152;ENST00000391958;ENST00000280305	T;T	0.16897	2.31;2.31	4.28	0.62	0.17637	Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.15739	0.0379	L	0.56280	1.765	0.23076	N	0.998331	B	0.10296	0.003	B	0.08055	0.003	T	0.26189	-1.0110	9	0.87932	D	0	.	6.0549	0.19807	0.7357:0.15:0.1143:0.0	.	396	A6NK53	ZN233_HUMAN	T	378;396;317	ENSP00000334957:R378T;ENSP00000375820:R396T	ENSP00000280305:R317T	R	+	2	0	ZNF233	49469840	0.540000	0.26410	0.002000	0.10522	0.005000	0.04900	1.453000	0.35167	-0.170000	0.10816	-0.216000	0.12614	AGA		0.448	ZNF233-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000460737.1	NM_181756		41	23	0	0	0	1	0	41	23					C	44778000	G	C	44778000	3	2	287	1	0	0	0	0	1	0	0	0	17783	942	33	5	1201	5	ZNF233	19	44778000	Missense_Mutation	SNP	G	TCGA-J9-A52D-01A-11D-A29Q-08	3427438	44778000	14350983	44	13873											
KLK15	55554	broad.mit.edu	37	chr19	51330399	51330399	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgcgcaggttgtgctctccCaggcgcactctcatgaagct	6	11	11	13	2	2	1	1	1	2	0	4	1	2	1	1	2	3	5	1	2	1	2			TCGA-J9-A52D-01A-11D-A29Q-08	TCGA-J9-A52D-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e63c8077-ee5f-4ff5-a416-8f73b2675957	14d30fae-711c-4b77-a452-4fd8eb1c039c	g.chr19:51330399C>G	ENST00000598239.1	-	3	246	c.216G>C	c.(214-216)ctG>ctC	p.L72L	KLK15_ENST00000416184.1_Silent_p.L72L|KLK15_ENST00000596931.1_Silent_p.L71L|KLK15_ENST00000301421.2_Silent_p.L72L|KLK15_ENST00000326856.4_Silent_p.L71L	NM_017509.2	NP_059979.2	Q9H2R5	KLK15_HUMAN	kallikrein-related peptidase 15	72	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(12)|skin(2)|upper_aerodigestive_tract(1)	24		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00758)|GBM - Glioblastoma multiforme(134;0.0143)		TGTGCTCTCCCAGGCGCACTC	0.622																																					Pancreas(140;10 2513 7143 9246)	ENST00000326856.4																			0				breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(12)|skin(2)|upper_aerodigestive_tract(1)	24						c.(211-213)ctG>ctC		kallikrein-related peptidase 15							57	50	52					19																	51330399		2201	4298	6499	SO:0001819	synonymous_variant	55554				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr19:51330399C>G	AF242195	CCDS12805.1, CCDS12806.1, CCDS12806.2, CCDS62766.1	19q13.4	2008-02-05	2006-10-27			ENSG00000174562		"Kallikreins"	20453	protein-coding gene	gene with protein product		610601	"kallikrein 15"			11010966, 12439720, 16800724, 16800723	Standard	NM_017509		Approved	HSRNASPH, ACO, prostinogen	uc002ptl.3	Q9H2R5		ENST00000598239.1:c.216G>C	19.37:g.51330399C>G						KLK15_ENST00000301421.2_Silent_p.L72L|KLK15_ENST00000596931.1_Silent_p.L71L|KLK15_ENST00000598239.1_Silent_p.L72L|KLK15_ENST00000416184.1_Silent_p.L72L	p.L71L	NM_001277081.1	NP_001264010.1	Q9H2R5	KLK15_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00758)|GBM - Glioblastoma multiforme(134;0.0143)	4	342	-		all_neural(266;0.057)	72			Peptidase S1.		A0AUY8|Q15358|Q6ISI0|Q9H2R3|Q9H2R4|Q9H2R6|Q9HBG9	Silent	SNP	ENST00000598239.1	37	c.213G>C	CCDS12805.1																																																																																				0.622	KLK15-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465160.1	NM_017509		23	24	0	0	0	1	0	23	24					G	51330399	C	G	51330399	2	3	287	1	0	0	0	0	0	0	0	1	8403	581	21	5		5	KLK15	19	51330399	Silent	SNP	C	TCGA-J9-A52D-01A-11D-A29Q-08	6552399	51330399	7798584	45	13874											
C20orf96	140680	broad.mit.edu	37	chr20	257752	257752	+	Frame_Shift_Del	DEL	T	T	-																															cagacaaggattccaggaccTttctgcgcatctcaccgagg																										TCGA-J9-A52D-01A-11D-A29Q-08	TCGA-J9-A52D-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e63c8077-ee5f-4ff5-a416-8f73b2675957	14d30fae-711c-4b77-a452-4fd8eb1c039c	g.chr20:257752delT	ENST00000360321.2	-	8	896	c.758delA	c.(757-759)aagfs	p.K253fs	C20orf96_ENST00000400269.3_Frame_Shift_Del_p.K195fs|C20orf96_ENST00000382369.5_Frame_Shift_Del_p.K218fs	NM_080571.1|NM_153269.2	NP_542138.1|NP_695001.2	Q9NUD7	CT096_HUMAN	chromosome 20 open reading frame 96	253										endometrium(3)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	12		all_cancers(10;0.00959)|Lung NSC(37;0.227)	OV - Ovarian serous cystadenocarcinoma(29;0.149)			TTCCAGGACCTTTCTGCGCAT	0.552																																						ENST00000360321.2																			0				endometrium(3)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	12						c.(757-759)agfs		chromosome 20 open reading frame 96							137	152	147					20																	257752		2203	4300	6503	SO:0001589	frameshift_variant	140680							g.chr20:257752delT	AL034548	CCDS12994.1, CCDS74685.1	20p13	2012-10-30			ENSG00000196476	ENSG00000196476			16227	protein-coding gene	gene with protein product							Standard	NM_153269		Approved	dJ1103G7.2	uc002wde.2	Q9NUD7	OTTHUMG00000031626	ENST00000360321.2:c.758delA	20.37:g.257752delT	ENSP00000353470:p.Lys253fs					C20orf96_ENST00000382369.5_Frame_Shift_Del_p.K218fs|C20orf96_ENST00000400269.3_Frame_Shift_Del_p.K195fs	p.K253fs	NM_080571.1|NM_153269.2	NP_542138.1|NP_695001.2	Q9NUD7	CT096_HUMAN	OV - Ovarian serous cystadenocarcinoma(29;0.149)		8	896	-		all_cancers(10;0.00959)|Lung NSC(37;0.227)	253					A3KPE0|B2RPH9|Q8N840|Q8NAX5	Frame_Shift_Del	DEL	ENST00000360321.2	37	c.758delA	CCDS12994.1																																																																																				0.552	C20orf96-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077439.2	NM_153269		125	178						125	178	---	---	---	---	-	257752	T	-	257752	7	5	287	1	0	1	0	1	0	0	0	0	2122	1609	56	0	349	0	C20orf96	20	257752	Frame_Shift_Del	DEL	T	TCGA-J9-A52D-01A-11D-A29Q-08		257752	62767768	46	13875											
BCAS4	55653	broad.mit.edu	37	chr20	49446884	49446884	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaggccaaactgacagaaatGcgtggcatctatgccaaagt	15	7	10	9	1	1	2	0	1	1	1	1	2	1	2	2	2	3	1	2	2	5	1			TCGA-J9-A52D-01A-11D-A29Q-08	TCGA-J9-A52D-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e63c8077-ee5f-4ff5-a416-8f73b2675957	14d30fae-711c-4b77-a452-4fd8eb1c039c	g.chr20:49446884G>A	ENST00000358791.5	+	3	421	c.321G>A	c.(319-321)atG>atA	p.M107I	BCAS4_ENST00000371608.2_Missense_Mutation_p.M107I|BCAS4_ENST00000485049.1_3'UTR|BCAS4_ENST00000609336.1_Missense_Mutation_p.M77I|BCAS4_ENST00000262591.5_Missense_Mutation_p.M107I	NM_017843.3	NP_060313.3	Q8TDM0	BCAS4_HUMAN	breast carcinoma amplified sequence 4	107						cytoplasm (GO:0005737)				large_intestine(2)|lung(2)|pancreas(1)|upper_aerodigestive_tract(1)	6						TGACAGAAATGCGTGGCATCT	0.488																																						ENST00000358791.5																			0				large_intestine(2)|lung(2)|pancreas(1)|upper_aerodigestive_tract(1)	6						c.(319-321)atG>atA		breast carcinoma amplified sequence 4							159	126	137					20																	49446884		2203	4300	6503	SO:0001583	missense	55653					cytoplasm		g.chr20:49446884G>A	AK000502	CCDS13432.2, CCDS33487.1	20q13	2008-07-03			ENSG00000124243	ENSG00000124243			14367	protein-coding gene	gene with protein product		607471				12378525	Standard	NM_001010974		Approved	FLJ20495, CNOL	uc002xvq.3	Q8TDM0	OTTHUMG00000032735	ENST00000358791.5:c.321G>A	20.37:g.49446884G>A	ENSP00000351642:p.Met107Ile					BCAS4_ENST00000371608.2_Missense_Mutation_p.M107I|BCAS4_ENST00000485049.1_3'UTR|BCAS4_ENST00000262591.5_Missense_Mutation_p.M107I	p.M107I	NM_017843.3	NP_060313.3	Q8TDM0	BCAS4_HUMAN			3	421	+			107					Q5TD52|Q5TD53|Q5TD54|Q5U5K7|Q5XKE8|Q8IXI7|Q8NEZ6|Q8TDL9|Q9NX13|Q9Y511	Missense_Mutation	SNP	ENST00000358791.5	37	c.321G>A	CCDS33487.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.91|13.91	2.378392|2.378392	0.42207|0.42207	.|.	.|.	ENSG00000124243|ENSG00000124243	ENST00000445038|ENST00000358791;ENST00000262591;ENST00000355583;ENST00000371608	.|T;T;T	.|0.54071	.|1.53;0.59;0.64	5.52|5.52	2.36|2.36	0.29203|0.29203	.|.	.|0.090369	.|0.64402	.|N	.|0.000001	T|T	0.43942|0.43942	0.1270|0.1270	M|M	0.62266|0.62266	1.93|1.93	0.09310|0.09310	N|N	1|1	.|B;B;B;B	.|0.24721	.|0.019;0.017;0.11;0.002	.|B;B;B;B	.|0.20384	.|0.015;0.011;0.029;0.004	T|T	0.43893|0.43893	-0.9363|-0.9363	5|10	.|0.66056	.|D	.|0.02	-10.5091|-10.5091	4.6111|4.6111	0.12402|0.12402	0.0834:0.1505:0.6104:0.1557|0.0834:0.1505:0.6104:0.1557	.|.	.|107;107;107;107	.|Q8TDM0-2;Q8TDM0-3;Q8TDM0;F8WE92	.|.;.;BCAS4_HUMAN;.	Y|I	82|107	.|ENSP00000351642:M107I;ENSP00000262591:M107I;ENSP00000360669:M107I	.|ENSP00000262591:M107I	C|M	+|+	2|3	0|0	BCAS4|BCAS4	48880291|48880291	1.000000|1.000000	0.71417|0.71417	0.018000|0.018000	0.16275|0.16275	0.402000|0.402000	0.30811|0.30811	1.554000|1.554000	0.36266|0.36266	0.242000|0.242000	0.21303|0.21303	-0.182000|-0.182000	0.12963|0.12963	TGC|ATG		0.488	BCAS4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079700.1	NM_017843		35	37	0	0	0	1	0	35	37					A	49446884	G	A	49446884	3	1	287	1	0	0	0	0	1	0	0	0	1353	1319	46	3	331	3	BCAS4	20	49446884	Missense_Mutation	SNP	G	TCGA-J9-A52D-01A-11D-A29Q-08	49189132	49446884	13578636	47	13876											
UCKL1	54963	broad.mit.edu	37	chr20	62572025	62572025	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttgcacacagcgcgcagcgcGggctccatggtttcaccggc	6	7	13	15	5	1	0	1	0	0	0	2	0	2	0	2	3	3	4	2	3	0	2	rs370105526		TCGA-J9-A52D-01A-11D-A29Q-08	TCGA-J9-A52D-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e63c8077-ee5f-4ff5-a416-8f73b2675957	14d30fae-711c-4b77-a452-4fd8eb1c039c	g.chr20:62572025G>A	ENST00000354216.6	-	12	1266	c.1224C>T	c.(1222-1224)ccC>ccT	p.P408P	MIR647_ENST00000384823.1_RNA|UCKL1_ENST00000369908.5_Silent_p.P393P|UCKL1_ENST00000358711.3_3'UTR|UCKL1_ENST00000369892.3_Silent_p.P408P|MIR1914_ENST00000607800.1_RNA	NM_017859.3	NP_060329.2	Q9NWZ5	UCKL1_HUMAN	uridine-cytidine kinase 1-like 1	408					CTP salvage (GO:0044211)|UMP salvage (GO:0044206)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|uridine kinase activity (GO:0004849)			endometrium(3)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	8	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)					CGCGCAGCGCGGGCTCCATGG	0.697																																						ENST00000369908.5																			0				endometrium(3)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	8						c.(1177-1179)ccC>ccT		uridine-cytidine kinase 1-like 1		G	,	0,4354		0,0,2177	21	23	23		1179,1224	-10.1	0	20		23	1,8567		0,1,4283	no	coding-synonymous,coding-synonymous	UCKL1	NM_001193379.1,NM_017859.3	,	0,1,6460	AA,AG,GG		0.0117,0.0,0.0077	,	393/534,408/549	62572025	1,12921	2177	4284	6461	SO:0001819	synonymous_variant	54963				interspecies interaction between organisms	endoplasmic reticulum|nucleus	ATP binding|phosphotransferase activity, alcohol group as acceptor|protein binding|uridine kinase activity	g.chr20:62572025G>A	AK000524	CCDS13547.1, CCDS54479.1	20q13.33	2012-09-20	2004-07-13	2004-07-13	ENSG00000198276	ENSG00000198276			15938	protein-coding gene	gene with protein product		610866	"uridine kinase-like 1"	URKL1			Standard	NM_017859		Approved	FLJ20517	uc010gkn.3	Q9NWZ5	OTTHUMG00000033003	ENST00000354216.6:c.1224C>T	20.37:g.62572025G>A						UCKL1_ENST00000369892.3_Silent_p.P408P|UCKL1_ENST00000358711.3_3'UTR|UCKL1_ENST00000354216.6_Silent_p.P408P	p.P393P	NM_001193379.1	NP_001180308.1	Q9NWZ5	UCKL1_HUMAN			12	1478	-	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)		408					B7Z8N2|Q5JWV0|Q70AQ5|Q8N524|Q9H3Z2	Silent	SNP	ENST00000354216.6	37	c.1179C>T	CCDS13547.1																																																																																				0.697	UCKL1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000080236.1	NM_017859		12	16	0	0	0	1	0	12	16					A	62572025	G	A	62572025	2	1	287	1	0	0	0	0	0	0	0	1	16922	1103	39	2		2	UCKL1	20	62572025	Silent	SNP	G	TCGA-J9-A52D-01A-11D-A29Q-08	13125141	62572025	453495	48	13877											
AKAP4	8852	broad.mit.edu	37	chrX	49955714	49955714	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acctcttgaagaagacctccTacactgtaccccttctctgc	9	11	5	16	0	2	3	0	1	2	2	4	3	3	3	5	0	3	1	5	0	4	4			TCGA-J9-A52D-01A-11D-A29Q-08	TCGA-J9-A52D-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e63c8077-ee5f-4ff5-a416-8f73b2675957	14d30fae-711c-4b77-a452-4fd8eb1c039c	g.chrX:49955714T>A	ENST00000376056.2	-	6	2577	c.2427A>T	c.(2425-2427)gtA>gtT	p.V809V	AKAP4_ENST00000358526.2_Silent_p.V818V|AKAP4_ENST00000376058.2_Silent_p.V435V|AKAP4_ENST00000481402.1_5'UTR|AKAP4_ENST00000376064.3_Silent_p.V809V					A kinase (PRKA) anchor protein 4											NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(6)|lung(14)|ovary(1)|skin(4)	41	Ovarian(276;0.236)					GAAGACCTCCTACACTGTACC	0.512																																						ENST00000376056.2																			0				NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(6)|lung(14)|ovary(1)|skin(4)	41						c.(2425-2427)gtA>gtT		A kinase (PRKA) anchor protein 4							224	182	196					X																	49955714		2203	4300	6503	SO:0001819	synonymous_variant	8852				cell projection organization|single fertilization|sperm motility	cAMP-dependent protein kinase complex|cilium|cytoskeleton|microtubule-based flagellum	protein kinase A binding	g.chrX:49955714T>A	AF072756	CCDS14329.1, CCDS14330.1	Xp11.2	2009-03-12			ENSG00000147081	ENSG00000147081		"A-kinase anchor proteins"	374	protein-coding gene	gene with protein product	"A-kinase anchor protein 82 kDa", "testis-specific gene HI", "protein kinase A anchoring protein 4", "cancer/testis antigen 99"	300185				9822690, 9514854	Standard	NM_003886		Approved	p82, hAKAP82, AKAP82, Fsc1, HI, CT99	uc004dow.1	Q5JQC9	OTTHUMG00000021517	ENST00000376056.2:c.2427A>T	X.37:g.49955714T>A						AKAP4_ENST00000481402.1_5'UTR|AKAP4_ENST00000376064.3_Silent_p.V809V|AKAP4_ENST00000358526.2_Silent_p.V818V|AKAP4_ENST00000376058.2_Silent_p.V435V	p.V809V			Q5JQC9	AKAP4_HUMAN			6	2577	-	Ovarian(276;0.236)		818						Silent	SNP	ENST00000376056.2	37	c.2427A>T	CCDS14330.1																																																																																				0.512	AKAP4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056552.1	NM_003886		50	10	0	0	0	1	0	50	10					A	49955714	T	A	49955714	2	1	287	1	0	0	0	0	0	0	0	1	453	1509	53	5		5	AKAP4	23	49955714	Silent	SNP	T	TCGA-J9-A52D-01A-11D-A29Q-08		49955714	105314846	49	13878			1	33		2	2	18	N	T_CTG	2.855556e-05
AKAP4	8852	broad.mit.edu	37	chrX	49955731	49955733	+	In_Frame_Del	DEL	CTG	CTG	-																															tcctacactgtaccccttctCtgctgctttagctgaaacct																										TCGA-J9-A52D-01A-11D-A29Q-08	TCGA-J9-A52D-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e63c8077-ee5f-4ff5-a416-8f73b2675957	14d30fae-711c-4b77-a452-4fd8eb1c039c	g.chrX:49955731_49955733delCTG	ENST00000376056.2	-	6	2558_2560	c.2408_2410delCAG	c.(2407-2412)gcagag>gag	p.A803del	AKAP4_ENST00000358526.2_In_Frame_Del_p.A812del|AKAP4_ENST00000376058.2_In_Frame_Del_p.A429del|AKAP4_ENST00000481402.1_5'UTR|AKAP4_ENST00000376064.3_In_Frame_Del_p.A803del					A kinase (PRKA) anchor protein 4											NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(6)|lung(14)|ovary(1)|skin(4)	41	Ovarian(276;0.236)					TACCCCTTCTCTGCTGCTTTAGC	0.498																																						ENST00000376056.2																			0				NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(6)|lung(14)|ovary(1)|skin(4)	41						c.(2407-2412)gag>g		A kinase (PRKA) anchor protein 4																																				SO:0001651	inframe_deletion	8852				cell projection organization|single fertilization|sperm motility	cAMP-dependent protein kinase complex|cilium|cytoskeleton|microtubule-based flagellum	protein kinase A binding	g.chrX:49955731_49955733delCTG	AF072756	CCDS14329.1, CCDS14330.1	Xp11.2	2009-03-12			ENSG00000147081	ENSG00000147081		"A-kinase anchor proteins"	374	protein-coding gene	gene with protein product	"A-kinase anchor protein 82 kDa", "testis-specific gene HI", "protein kinase A anchoring protein 4", "cancer/testis antigen 99"	300185				9822690, 9514854	Standard	NM_003886		Approved	p82, hAKAP82, AKAP82, Fsc1, HI, CT99	uc004dow.1	Q5JQC9	OTTHUMG00000021517	ENST00000376056.2:c.2408_2410delCAG	X.37:g.49955734_49955736delCTG	ENSP00000365224:p.Ala803del					AKAP4_ENST00000376058.2_In_Frame_Del_p.AE429del|AKAP4_ENST00000376064.3_In_Frame_Del_p.AE803del|AKAP4_ENST00000358526.2_In_Frame_Del_p.AE812del|AKAP4_ENST00000481402.1_5'UTR	p.AE803del			Q5JQC9	AKAP4_HUMAN			6	2558_2560	-	Ovarian(276;0.236)		812						In_Frame_Del	DEL	ENST00000376056.2	37	c.2408_2410delCAG	CCDS14330.1																																																																																				0.498	AKAP4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056552.1	NM_003886		58	18						58	18	---	---	---	---	-	49955733	CTG	-	49955731	7	5	287	1	0	1	0	1	0	0	0	0	453	922	32	0	131	0	AKAP4	23	49955731	In_Frame_Del	DEL	CTG	TCGA-J9-A52D-01A-11D-A29Q-08	17	49955731	105314829	50	13879			1	33		2	2	18	N	T_CTG	2.855556e-05
RPA4	29935	broad.mit.edu	37	chrX	96140003	96140003	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcagctctgcgaccttagcGtcaaggccatcaaggaagcg	10	7	11	13	3	4	0	3	0	1	0	4	2	4	1	2	2	4	1	2	2	4	1			TCGA-J9-A52D-01A-11D-A29Q-08	TCGA-J9-A52D-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e63c8077-ee5f-4ff5-a416-8f73b2675957	14d30fae-711c-4b77-a452-4fd8eb1c039c	g.chrX:96140003G>A	ENST00000373040.3	+	1	1097	c.694G>A	c.(694-696)Gtc>Atc	p.V232I	DIAPH2_ENST00000355827.4_Intron|DIAPH2_ENST00000324765.8_Intron|DIAPH2_ENST00000373049.4_Intron|DIAPH2_ENST00000373061.3_Intron|DIAPH2_ENST00000373054.4_Intron	NM_013347.4	NP_037479.1	Q13156	RFA4_HUMAN	replication protein A4, 30kDa	232					DNA damage checkpoint (GO:0000077)|DNA recombination (GO:0006310)|DNA replication initiation (GO:0006270)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)	DNA replication factor A complex (GO:0005662)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	single-stranded DNA binding (GO:0003697)			endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)	13						CGACCTTAGCGTCAAGGCCAT	0.517								Other identified genes with known or suspected DNA repair function																														ENST00000373040.3																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)	13						c.(694-696)Gtc>Atc	Other identified genes with known or suspected DNA repair function	replication protein A4, 30kDa							108	92	98					X																	96140003		2203	4300	6503	SO:0001583	missense	29935				DNA damage checkpoint|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair	DNA replication factor A complex|nucleoplasm	single-stranded DNA binding	g.chrX:96140003G>A	U24186	CCDS35345.1	Xq21	2010-04-09	2010-04-09		ENSG00000204086	ENSG00000204086			30305	protein-coding gene	gene with protein product		300767	"replication protein A4, 34kDa"			7760808	Standard	NM_013347		Approved	HSU24186	uc004efv.4	Q13156	OTTHUMG00000021987	ENST00000373040.3:c.694G>A	X.37:g.96140003G>A	ENSP00000362131:p.Val232Ile					DIAPH2_ENST00000324765.8_Intron|DIAPH2_ENST00000355827.4_Intron|DIAPH2_ENST00000373049.4_Intron|DIAPH2_ENST00000373054.4_Intron|DIAPH2_ENST00000373061.3_Intron	p.V232I	NM_013347.4	NP_037479.1	Q13156	RFA4_HUMAN			1	1097	+			232					Q3SY03	Missense_Mutation	SNP	ENST00000373040.3	37	c.694G>A	CCDS35345.1	.	.	.	.	.	.	.	.	.	.	G	1.812	-0.474379	0.04414	.	.	ENSG00000204086	ENST00000373040	T	0.48522	0.81	3.29	-6.59	0.01830	Winged helix-turn-helix transcription repressor DNA-binding (1);Replication protein A, C-terminal (1);	.	.	.	.	T	0.27967	0.0689	L	0.27053	0.805	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.24333	-1.0163	9	0.18276	T	0.48	-5.588	10.483	0.44704	0.1868:0.1414:0.6718:0.0	.	232	Q13156	RFA4_HUMAN	I	232	ENSP00000362131:V232I	ENSP00000362131:V232I	V	+	1	0	RPA4	96026659	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.533000	0.06157	-2.064000	0.00888	-2.474000	0.00201	GTC		0.517	RPA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057464.1	NM_013347		53	6	0	0	0	1	0	53	6					A	96140003	G	A	96140003	3	1	287	1	0	0	0	0	1	0	0	0	13539	1145	40	1	696	1	RPA4	23	96140003	Missense_Mutation	SNP	G	TCGA-J9-A52D-01A-11D-A29Q-08	46184272	96140003	59130557	51	13880											
MTCP1	4515	broad.mit.edu	37	chrX	154294021	154294021	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gcctagctgcgtcacctaagGgaacctgaatttgctggact	9	10	11	11	1	1	1	1	1	0	0	1	3	1	3	3	2	4	2	3	2	4	3			TCGA-J9-A52D-01A-11D-A29Q-08	TCGA-J9-A52D-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e63c8077-ee5f-4ff5-a416-8f73b2675957	14d30fae-711c-4b77-a452-4fd8eb1c039c	g.chrX:154294021G>C	ENST00000369476.3	-	3	728	c.149C>G	c.(148-150)cCc>cGc	p.P50R	CMC4_ENST00000369479.1_5'Flank|MTCP1_ENST00000362018.2_Missense_Mutation_p.P50R|CMC4_ENST00000369484.3_Intron|MTCP1_ENST00000482244.1_5'UTR	NM_001018025.3	NP_001018025.1	P56278	MTCP1_HUMAN	mature T-cell proliferation 1	50					cell proliferation (GO:0008283)	mitochondrion (GO:0005739)				large_intestine(1)|lung(2)|prostate(1)|urinary_tract(1)	5	all_cancers(53;3.51e-17)|all_epithelial(53;5.13e-11)|all_lung(58;3.84e-07)|Lung NSC(58;1.2e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					GTCACCTAAGGGAACCTGAAT	0.478			T	TRA@	T cell prolymphocytic leukemia																																	ENST00000369476.3				Dom	yes		X	Xq28	4515	T	mature T-cell proliferation 1			L	TRA@		T cell prolymphocytic leukemia		0				large_intestine(1)|lung(2)|prostate(1)|urinary_tract(1)	5						c.(148-150)cCc>cGc		mature T-cell proliferation 1							97	93	95					X																	154294021		2034	4161	6195	SO:0001583	missense	4515				cell proliferation			g.chrX:154294021G>C		CCDS44027.1	Xq28	2011-10-10			ENSG00000214827	ENSG00000214827			7423	protein-coding gene	gene with protein product		300116				8361760, 8634440, 9691281	Standard	NM_001018025		Approved	P13MTCP1, p8MTCP1	uc004fmz.2	P56278	OTTHUMG00000156241	ENST00000369476.3:c.149C>G	X.37:g.154294021G>C	ENSP00000358488:p.Pro50Arg					MTCP1_ENST00000482244.1_5'UTR|CMC4_ENST00000369484.3_Intron|MTCP1_ENST00000362018.2_Missense_Mutation_p.P50R	p.P50R	NM_001018025.3	NP_001018025.1	P56278	MTCP1_HUMAN			3	728	-	all_cancers(53;3.51e-17)|all_epithelial(53;5.13e-11)|all_lung(58;3.84e-07)|Lung NSC(58;1.2e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)		50					Q5HYP2	Missense_Mutation	SNP	ENST00000369476.3	37	c.149C>G	CCDS44027.1	.	.	.	.	.	.	.	.	.	.	G	14.35	2.510560	0.44660	.	.	ENSG00000214827	ENST00000369476;ENST00000362018	T;T	0.29397	1.57;1.57	5.42	5.42	0.78866	.	0.000000	0.64402	D	0.000004	T	0.49321	0.1550	L	0.50333	1.59	0.40821	D	0.983502	D	0.65815	0.995	D	0.76071	0.987	T	0.42599	-0.9442	10	0.41790	T	0.15	-15.2201	15.1393	0.72599	0.0:0.0:1.0:0.0	.	50	P56278	MTCP1_HUMAN	R	50	ENSP00000358488:P50R;ENSP00000355058:P50R	ENSP00000355058:P50R	P	-	2	0	MTCP1	153947215	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.021000	0.70832	2.414000	0.81942	0.600000	0.82982	CCC		0.478	MTCP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058776.1	NM_001018025		33	4	0	0	0	1	0	33	4					C	154294021	G	C	154294021	3	2	287	1	0	0	0	0	1	0	0	0	9915	1232	43	5	182	5	MTCP1	23	154294021	Missense_Mutation	SNP	G	TCGA-J9-A52D-01A-11D-A29Q-08	58154018	154294021	976539	52	13881											
AURKAIP1	54998	broad.mit.edu	37	chr1	1309669	1309669	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	agctctccagggggctgacgGacatcttcctggggaccagc	7	7	14	13	1	2	1	0	1	2	0	4	3	3	3	3	5	2	2	3	5	0	1			TCGA-J9-A52E-01A-11D-A26M-08	TCGA-J9-A52E-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	840aa1ee-fa15-4fc3-b292-886ab0dbfc06	8486179b-1f5d-4f30-9d89-0672c1e73383	g.chr1:1309669G>C	ENST00000338370.3	-	2	609	c.209C>G	c.(208-210)tCc>tGc	p.S70C	AURKAIP1_ENST00000321751.5_Missense_Mutation_p.S70C|AURKAIP1_ENST00000489799.1_5'UTR|AURKAIP1_ENST00000378853.3_Missense_Mutation_p.S70C|AURKAIP1_ENST00000338338.5_Missense_Mutation_p.S70C			Q9NWT8	AKIP_HUMAN	aurora kinase A interacting protein 1	70					negative regulation of mitosis (GO:0045839)|positive regulation of proteolysis (GO:0045862)	intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|nucleus (GO:0005634)				kidney(1)|lung(2)	3	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;5.82e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.77e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		GGGGCTGACGGACATCTTCCT	0.672																																						ENST00000338370.3																			0				kidney(1)|lung(2)	3						c.(208-210)tCc>tGc		aurora kinase A interacting protein 1							29	35	33					1																	1309669		2203	4294	6497	SO:0001583	missense	54998				negative regulation of mitosis|positive regulation of proteolysis	mitochondrion|nucleus	protein binding	g.chr1:1309669G>C		CCDS25.1	1p36.33	2014-02-12			ENSG00000175756	ENSG00000175756			24114	protein-coding gene	gene with protein product		609183				12244051	Standard	NM_017900		Approved	AKIP, AIP, FLJ20608	uc009vkb.1	Q9NWT8	OTTHUMG00000001413	ENST00000338370.3:c.209C>G	1.37:g.1309669G>C	ENSP00000342676:p.Ser70Cys					AURKAIP1_ENST00000378853.3_Missense_Mutation_p.S70C|AURKAIP1_ENST00000489799.1_5'UTR|AURKAIP1_ENST00000338338.5_Missense_Mutation_p.S70C|AURKAIP1_ENST00000321751.5_Missense_Mutation_p.S70C	p.S70C			Q9NWT8	AKIP_HUMAN		Epithelial(90;5.82e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.77e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)	2	609	-	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)	70					Q5TA36|Q8TBD3	Missense_Mutation	SNP	ENST00000338370.3	37	c.209C>G	CCDS25.1	.	.	.	.	.	.	.	.	.	.	g	14.05	2.419336	0.42918	.	.	ENSG00000175756	ENST00000338338;ENST00000338370;ENST00000321751;ENST00000378853	T;T;T;T	0.35605	1.3;1.3;1.3;1.3	5.16	3.28	0.37604	.	0.231837	0.37053	N	0.002273	T	0.40272	0.1110	M	0.73217	2.22	0.28904	N	0.893121	B	0.12630	0.006	B	0.09377	0.004	T	0.36504	-0.9745	10	0.54805	T	0.06	-7.4649	15.9226	0.79589	0.0:0.2558:0.7442:0.0	.	70	Q9NWT8	AKIP_HUMAN	C	70	ENSP00000340656:S70C;ENSP00000342676:S70C;ENSP00000319778:S70C;ENSP00000368130:S70C	ENSP00000319778:S70C	S	-	2	0	AURKAIP1	1299532	1.000000	0.71417	0.968000	0.41197	0.856000	0.48823	6.122000	0.71608	0.196000	0.20367	-0.795000	0.03280	TCC		0.672	AURKAIP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008273.1	NM_017900		11	33	0	0	0	1	0	11	33					C	1309669	G	C	1309669	3	2	288	1	0	0	0	0	1	0	0	0	1222	1174	41	5	398	5	AURKAIP1	1	1309669	Missense_Mutation	SNP	G	TCGA-J9-A52E-01A-11D-A26M-08		1309669	247940952	1	13882											
ATP8B2	57198	broad.mit.edu	37	chr1	154315375	154315375	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caagatcggggacccccacaCgcatgagttcttccgcctcc	8	7	9	17	3	1	2	0	1	1	1	4	3	3	3	5	2	0	2	5	2	1	2			TCGA-J9-A52E-01A-11D-A26M-08	TCGA-J9-A52E-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	840aa1ee-fa15-4fc3-b292-886ab0dbfc06	8486179b-1f5d-4f30-9d89-0672c1e73383	g.chr1:154315375C>T	ENST00000368489.3	+	15	1490	c.1490C>T	c.(1489-1491)aCg>aTg	p.T497M		NM_020452.3	NP_065185.1	P98198	AT8B2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 2	483					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)		IL6R/ATP8B2(2)	breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			GACCCCCACACGCATGAGTTC	0.552																																						ENST00000368489.3																		IL6R/ATP8B2(2)	0				breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	51						c.(1489-1491)aCg>aTg		ATPase, aminophospholipid transporter, class I, type 8B, member 2							53	56	55					1																	154315375		2203	4300	6503	SO:0001583	missense	57198				ATP biosynthetic process	plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr1:154315375C>T	AB032963	CCDS1066.1, CCDS41405.1	1q21.3	2012-03-09	2012-03-09		ENSG00000143515	ENSG00000143515		"ATPases / P-type"	13534	protein-coding gene	gene with protein product		605867	"ATPase, class I, type 8B, member 2"			10574461, 11015572	Standard	NM_020452		Approved	ATPID, KIAA1137	uc001fex.3	P98198	OTTHUMG00000035979	ENST00000368489.3:c.1490C>T	1.37:g.154315375C>T	ENSP00000357475:p.Thr497Met						p.T497M	NM_020452.3	NP_065185.1	P98198	AT8B2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.185)		15	1490	+	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		483					B4E3P4|Q6NT69|Q7Z486|Q96I43|Q96NQ7	Missense_Mutation	SNP	ENST00000368489.3	37	c.1490C>T	CCDS1066.1	.	.	.	.	.	.	.	.	.	.	C	14.72	2.620069	0.46736	.	.	ENSG00000143515	ENST00000368489	T	0.63096	-0.02	5.39	2.45	0.29901	.	0.235110	0.44097	D	0.000498	T	0.42494	0.1205	L	0.38175	1.15	0.23198	N	0.998133	D	0.54772	0.968	P	0.50270	0.636	T	0.27806	-1.0063	10	0.72032	D	0.01	.	9.3521	0.38145	0.0:0.6958:0.0:0.3042	.	497	P98198-3	.	M	497	ENSP00000357475:T497M	ENSP00000357475:T497M	T	+	2	0	ATP8B2	152581999	0.529000	0.26322	0.210000	0.23637	0.948000	0.59901	2.400000	0.44504	0.841000	0.35020	0.655000	0.94253	ACG		0.552	ATP8B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087658.2	NM_020452		10	33	0	0	0	1	0	10	33					T	154315375	C	T	154315375	3	4	288	1	0	0	0	0	1	0	0	0	1195	536	19	1	1678	1	ATP8B2	1	154315375	Missense_Mutation	SNP	C	TCGA-J9-A52E-01A-11D-A26M-08	153005706	154315375	94935246	2	13883											
CADM3	57863	broad.mit.edu	37	chr1	159166233	159166233	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgctacactgtgagggtcgCggcaatccagtgtaagaaga	11	9	13	8	2	0	3	0	1	0	2	2	3	1	3	1	2	2	3	1	2	4	3	rs373766355		TCGA-J9-A52E-01A-11D-A26M-08	TCGA-J9-A52E-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	840aa1ee-fa15-4fc3-b292-886ab0dbfc06	8486179b-1f5d-4f30-9d89-0672c1e73383	g.chr1:159166233C>T	ENST00000368125.4	+	6	928	c.771C>T	c.(769-771)cgC>cgT	p.R257R	CADM3_ENST00000368124.4_Silent_p.R291R|CTA-134P22.2_ENST00000415675.2_RNA	NM_001127173.1	NP_001120645.1	Q8N126	CADM3_HUMAN	cell adhesion molecule 3	257	Ig-like C2-type 2.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|heterophilic cell-cell adhesion (GO:0007157)|homophilic cell adhesion (GO:0007156)|protein localization (GO:0008104)	cell-cell junction (GO:0005911)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(20)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55	all_hematologic(112;0.0429)					GTGAGGGTCGCGGCAATCCAG	0.507											OREG0013913	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000368125.4																			0				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(20)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						c.(769-771)cgC>cgT		cell adhesion molecule 3		C	,	2,4404	4.2+/-10.8	0,2,2201	190	133	152		771,873	-4.2	0.3	1		152	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	CADM3	NM_001127173.1,NM_021189.3	,	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	,	257/399,291/433	159166233	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	57863				adherens junction organization|cell junction assembly|heterophilic cell-cell adhesion|homophilic cell adhesion	cell-cell junction|integral to membrane	protein homodimerization activity	g.chr1:159166233C>T	AY046418	CCDS1182.1, CCDS44251.1	1q21.2-q22	2013-01-29	2007-02-07	2007-02-07	ENSG00000162706	ENSG00000162706		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	17601	protein-coding gene	gene with protein product	"nectin-like 1"	609743	"immunoglobulin superfamily, member 4B"	IGSF4B		11536053	Standard	NM_021189		Approved	BIgR, FLJ10698, TSLL1, NECL1, SynCAM3, Necl-1	uc001ftk.2	Q8N126	OTTHUMG00000037177	ENST00000368125.4:c.771C>T	1.37:g.159166233C>T			OREG0013913	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1799	CADM3_ENST00000368124.4_Silent_p.R291R|CTA-134P22.2_ENST00000415675.2_RNA	p.R257R	NM_001127173.1	NP_001120645.1	Q8N126	CADM3_HUMAN			6	928	+	all_hematologic(112;0.0429)		257			Ig-like C2-type 2.		Q8IZQ9|Q9NVJ5|Q9UJP1	Silent	SNP	ENST00000368125.4	37	c.771C>T	CCDS44251.1																																																																																				0.507	CADM3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000090330.1	NM_021189		9	21	0	0	0	1	0	9	21					T	159166233	C	T	159166233	2	4	288	1	0	0	0	0	0	0	0	1	2568	755	27	1		1	CADM3	1	159166233	Silent	SNP	C	TCGA-J9-A52E-01A-11D-A26M-08	4850858	159166233	90084388	3	13884											
TNN	63923	broad.mit.edu	37	chr1	175046867	175046867	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actgcgagttggcaggcagtGtccaggacctcctggcccgg	6	7	15	13	2	0	0	0	0	0	0	2	2	2	1	4	5	1	3	4	5	0	1			TCGA-J9-A52E-01A-11D-A26M-08	TCGA-J9-A52E-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	840aa1ee-fa15-4fc3-b292-886ab0dbfc06	8486179b-1f5d-4f30-9d89-0672c1e73383	g.chr1:175046867G>T	ENST00000239462.4	+	2	426	c.313G>T	c.(313-315)Gtc>Ttc	p.V105F		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	105					axonogenesis (GO:0007409)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)	cell surface (GO:0009986)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		GGCAGGCAGTGTCCAGGACCT	0.602																																						ENST00000239462.4																			0				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156						c.(313-315)Gtc>Ttc		tenascin N							57	56	56					1																	175046867		2203	4300	6503	SO:0001583	missense	63923				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix		g.chr1:175046867G>T	AK127044	CCDS30943.1	1q23-q24	2013-02-11			ENSG00000120332	ENSG00000120332		"Fibrinogen C domain containing", "Fibronectin type III domain containing"	22942	protein-coding gene	gene with protein product							Standard	NM_022093		Approved		uc001gkl.1	Q9UQP3	OTTHUMG00000034882	ENST00000239462.4:c.313G>T	1.37:g.175046867G>T	ENSP00000239462:p.Val105Phe						p.V105F	NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)	2	426	+		Breast(1374;0.000962)	105					B9EGP3|Q5R360	Missense_Mutation	SNP	ENST00000239462.4	37	c.313G>T	CCDS30943.1	.	.	.	.	.	.	.	.	.	.	G	11.77	1.738547	0.30774	.	.	ENSG00000120332	ENST00000239462;ENST00000539081	T	0.32272	1.46	5.51	-2.77	0.05877	.	0.325046	0.33553	N	0.004787	T	0.13798	0.0334	N	0.25957	0.775	0.21782	N	0.999542	B;B	0.23442	0.085;0.035	B;B	0.18561	0.022;0.021	T	0.07424	-1.0773	10	0.36615	T	0.2	.	2.7007	0.05148	0.3442:0.1794:0.3823:0.0941	.	105;105	B3KXB6;Q9UQP3	.;TENN_HUMAN	F	105	ENSP00000239462:V105F	ENSP00000239462:V105F	V	+	1	0	TNN	173313490	0.000000	0.05858	0.122000	0.21767	0.704000	0.40688	-1.105000	0.03323	0.002000	0.14630	0.655000	0.94253	GTC		0.602	TNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084422.1	XM_040527		7	51	1	0	3.09899e-07	1	3.41683e-07	7	51					T	175046867	G	T	175046867	3	4	288	1	0	0	0	0	1	0	0	0	16320	1377	48	5	315	5	TNN	1	175046867	Missense_Mutation	SNP	G	TCGA-J9-A52E-01A-11D-A26M-08	15880634	175046867	74203754	4	13885											
IWS1	55677	broad.mit.edu	37	chr2	128262756	128262756	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctgatacgaggtttgggaagCtcctcattttcagagtcact	9	13	10	9	1	3	2	3	1	0	1	4	4	4	3	1	2	2	2	1	2	2	4			TCGA-J9-A52E-01A-11D-A26M-08	TCGA-J9-A52E-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	840aa1ee-fa15-4fc3-b292-886ab0dbfc06	8486179b-1f5d-4f30-9d89-0672c1e73383	g.chr2:128262756C>T	ENST00000295321.4	-	3	982	c.723G>A	c.(721-723)gaG>gaA	p.E241E	IWS1_ENST00000486662.1_5'Flank|IWS1_ENST00000455721.2_Silent_p.E248E|AC010976.2_ENST00000599001.1_RNA	NM_017969.2	NP_060439.2	Q96ST2	IWS1_HUMAN	IWS1 homolog (S. cerevisiae)	241	3 X approximate tandem repeats.|Glu-rich.				mRNA processing (GO:0006397)|mRNA transport (GO:0051028)|regulation of histone H3-K36 trimethylation (GO:2001253)|regulation of histone H4 acetylation (GO:0090239)|regulation of mRNA export from nucleus (GO:0010793)|regulation of mRNA processing (GO:0050684)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)			cervix(1)|endometrium(2)|kidney(6)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	28	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0735)		GTTTGGGAAGCTCCTCATTTT	0.512																																						ENST00000295321.4																			0				cervix(1)|endometrium(2)|kidney(6)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	28						c.(721-723)gaG>gaA		IWS1 homolog (S. cerevisiae)							132	141	138					2																	128262756		2203	4300	6503	SO:0001819	synonymous_variant	55677				transcription, DNA-dependent	nucleus	DNA binding	g.chr2:128262756C>T	AK000868	CCDS2146.1	2q14.3	2006-03-17			ENSG00000163166	ENSG00000163166			25467	protein-coding gene	gene with protein product							Standard	NM_017969		Approved	DKFZp761G0123, FLJ10006, FLJ14655, FLJ32319	uc002ton.2	Q96ST2	OTTHUMG00000131527	ENST00000295321.4:c.723G>A	2.37:g.128262756C>T						AC010976.2_ENST00000599001.1_RNA|IWS1_ENST00000455721.2_Silent_p.E248E	p.E241E	NM_017969.2	NP_060439.2	Q96ST2	IWS1_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0735)	3	982	-	Colorectal(110;0.1)		241			3 X approximate tandem repeats.|Glu-rich.		Q2TB65|Q6P157|Q8N3E8|Q96MI7|Q9NV97|Q9NWH8	Silent	SNP	ENST00000295321.4	37	c.723G>A	CCDS2146.1																																																																																				0.512	IWS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254384.2	NM_017969		34	112	0	0	0	1	0	34	112					T	128262756	C	T	128262756	2	4	288	1	0	0	0	0	0	0	0	1	7931	796	28	3		3	IWS1	2	128262756	Silent	SNP	C	TCGA-J9-A52E-01A-11D-A26M-08		128262756	114936617	5	13886											
TAGLN3	29114	broad.mit.edu	37	chr3	111719774	111719774	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agaaccaccgacatctttcaGacggtggatctatgggaagg	12	8	12	9	2	3	2	1	0	2	2	3	5	3	4	2	4	1	0	2	4	3	2			TCGA-J9-A52E-01A-11D-A26M-08	TCGA-J9-A52E-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	840aa1ee-fa15-4fc3-b292-886ab0dbfc06	8486179b-1f5d-4f30-9d89-0672c1e73383	g.chr3:111719774G>A	ENST00000393917.2	+	3	888	c.336G>A	c.(334-336)caG>caA	p.Q112Q	TAGLN3_ENST00000478951.1_Silent_p.Q112Q|TAGLN3_ENST00000486460.1_Silent_p.Q28Q|TAGLN3_ENST00000273368.4_Silent_p.Q112Q|TAGLN3_ENST00000455401.2_Silent_p.Q112Q	NM_013259.2	NP_037391.2	Q9UI15	TAGL3_HUMAN	transgelin 3	112	CH. {ECO:0000255|PROSITE- ProRule:PRU00044}.				central nervous system development (GO:0007417)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	nucleus (GO:0005634)				endometrium(2)|lung(5)|urinary_tract(1)	8						ACATCTTTCAGACGGTGGATC	0.473																																						ENST00000393917.2																			0				endometrium(2)|lung(5)|urinary_tract(1)	8						c.(334-336)caG>caA		transgelin 3							126	130	129					3																	111719774		2203	4300	6503	SO:0001819	synonymous_variant	29114				central nervous system development|muscle organ development			g.chr3:111719774G>A	AF303058	CCDS33816.1	3q13.2	2008-02-05			ENSG00000144834	ENSG00000144834			29868	protein-coding gene	gene with protein product		607953				8015377, 11238712	Standard	NM_013259		Approved	NP25, NP22	uc003dyo.3	Q9UI15	OTTHUMG00000159281	ENST00000393917.2:c.336G>A	3.37:g.111719774G>A						TAGLN3_ENST00000273368.4_Silent_p.Q112Q|TAGLN3_ENST00000486460.1_Silent_p.Q28Q|TAGLN3_ENST00000478951.1_Silent_p.Q112Q|TAGLN3_ENST00000455401.2_Silent_p.Q112Q	p.Q112Q	NM_013259.2	NP_037391.2	Q9UI15	TAGL3_HUMAN			3	888	+			112			CH.		D3DN64|Q96A74	Silent	SNP	ENST00000393917.2	37	c.336G>A	CCDS33816.1																																																																																				0.473	TAGLN3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354331.1	NM_013259		12	81	0	0	0	1	0	12	81					A	111719774	G	A	111719774	2	1	288	1	0	0	0	0	0	0	0	1	15537	933	33	3		3	TAGLN3	3	111719774	Silent	SNP	G	TCGA-J9-A52E-01A-11D-A26M-08		111719774	86302656	6	13887											
SI	6476	broad.mit.edu	37	chr3	164735586	164735586	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ttgcaacttctggagttgggCccaaaaacatataaaaatcc	15	10	7	9	0	1	0	0	0	1	0	2	1	2	1	2	2	3	2	2	2	7	5			TCGA-J9-A52E-01A-11D-A26M-08	TCGA-J9-A52E-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	840aa1ee-fa15-4fc3-b292-886ab0dbfc06	8486179b-1f5d-4f30-9d89-0672c1e73383	g.chr3:164735586C>A	ENST00000264382.3	-	30	3658	c.3596G>T	c.(3595-3597)gGc>gTc	p.G1199V		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	1199	Sucrase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	brush border (GO:0005903)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|oligo-1,6-glucosidase activity (GO:0004574)|sucrose alpha-glucosidase activity (GO:0004575)			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)|Scopolamine(DB00747)	TGGAGTTGGGCCCAAAAACAT	0.333										HNSCC(35;0.089)																												ENST00000264382.3																			0				NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218						c.(3595-3597)gGc>gTc		sucrase-isomaltase (alpha-glucosidase)	Acarbose(DB00284)						60	58	58					3																	164735586		2203	4300	6503	SO:0001583	missense	6476				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity	g.chr3:164735586C>A	X63597	CCDS3196.1	3q25.2-q26.2	2004-04-06	2004-04-06		ENSG00000090402	ENSG00000090402	3.2.1.10		10856	protein-coding gene	gene with protein product	"Oligosaccharide alpha-1,6-glucosidase"	609845	"sucrase-isomaltase"			2962903, 1353958	Standard	NM_001041		Approved		uc003fei.3	P14410	OTTHUMG00000158065	ENST00000264382.3:c.3596G>T	3.37:g.164735586C>A	ENSP00000264382:p.Gly1199Val	HNSCC(35;0.089)					p.G1199V	NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN			30	3658	-		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)	1199			Sucrase.		A2RUC3|Q1JQ80|Q1RMC2	Missense_Mutation	SNP	ENST00000264382.3	37	c.3596G>T	CCDS3196.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.317842	0.81469	.	.	ENSG00000090402	ENST00000264382	D	0.98550	-4.99	4.91	4.91	0.64330	Glycoside hydrolase-type carbohydrate-binding (1);	0.000000	0.85682	D	0.000000	D	0.99441	0.9802	H	0.98276	4.19	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98126	1.0428	10	0.87932	D	0	.	18.2831	0.90104	0.0:1.0:0.0:0.0	.	1199	P14410	SUIS_HUMAN	V	1199	ENSP00000264382:G1199V	ENSP00000264382:G1199V	G	-	2	0	SI	166218280	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	6.465000	0.73538	2.540000	0.85666	0.491000	0.48974	GGC		0.333	SI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350116.1	NM_001041		3	25	1	0	2.56e-06	1	2.752e-06	3	25					A	164735586	C	A	164735586	3	1	288	1	0	0	0	0	1	0	0	0	14297	739	26	5	1963	5	SI	3	164735586	Missense_Mutation	SNP	C	TCGA-J9-A52E-01A-11D-A26M-08	53015812	164735586	33286844	7	13888											
ODZ3	55714	broad.mit.edu	37	chr4	183713808	183713808	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttgcaccattagatacaggCaaattggtcccctgattgac	11	12	8	10	0	0	3	0	2	0	1	1	3	1	3	3	2	2	2	3	2	3	5			TCGA-J9-A52E-01A-11D-A26M-08	TCGA-J9-A52E-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	840aa1ee-fa15-4fc3-b292-886ab0dbfc06	8486179b-1f5d-4f30-9d89-0672c1e73383	g.chr4:183713808C>A	ENST00000511685.1	+	26	6106	c.5983C>A	c.(5983-5985)Caa>Aaa	p.Q1995K	TENM3_ENST00000406950.2_Missense_Mutation_p.Q1995K			Q9P273	TEN3_HUMAN	teneurin transmembrane protein 3	1995					camera-type eye morphogenesis (GO:0048593)|homophilic cell adhesion (GO:0007156)|positive regulation of neuron projection development (GO:0010976)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cell projection (GO:0042995)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)										TAGATACAGGCAAATTGGTCC	0.413																																						ENST00000511685.1																			0											c.(5983-5985)Caa>Aaa		teneurin transmembrane protein 3							294	282	286					4																	183713808		1942	4135	6077	SO:0001583	missense	55714							g.chr4:183713808C>A	AF195420	CCDS47165.1	4q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000218336	ENSG00000218336			29944	protein-coding gene	gene with protein product		610083	"odz, odd Oz/ten-m homolog 3 (Drosophila)"	ODZ3		10331952, 10625539	Standard	NM_001080477		Approved	Ten-M3, KIAA1455	uc003ivd.1	Q9P273	OTTHUMG00000160682	ENST00000511685.1:c.5983C>A	4.37:g.183713808C>A	ENSP00000424226:p.Gln1995Lys					TENM3_ENST00000406950.2_Missense_Mutation_p.Q1995K	p.Q1995K							26	6106	+								Q5XUL9|Q96SY2|Q9NV77|Q9NVW1|Q9NZJ2	Missense_Mutation	SNP	ENST00000511685.1	37	c.5983C>A	CCDS47165.1	.	.	.	.	.	.	.	.	.	.	C	11.05	1.524931	0.27299	.	.	ENSG00000218336	ENST00000511685;ENST00000406950	D;D	0.86030	-2.06;-2.06	4.83	4.83	0.62350	.	.	.	.	.	T	0.70919	0.3279	N	0.16656	0.425	0.80722	D	1	P	0.48764	0.915	B	0.37780	0.258	T	0.73733	-0.3890	9	0.02654	T	1	.	18.4753	0.90790	0.0:1.0:0.0:0.0	.	1995	Q9P273	TEN3_HUMAN	K	1995	ENSP00000424226:Q1995K;ENSP00000385276:Q1995K	ENSP00000385276:Q1995K	Q	+	1	0	ODZ3	183950802	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.583000	0.82559	2.655000	0.90218	0.655000	0.94253	CAA		0.413	TENM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361734.1			32	149	1	0	9.65963e-10	1	1.12261e-09	32	149					A	183713808	C	A	183713808	3	1	288	1	0	0	0	0	1	0	0	0	10836	711	25	5	6081	5	ODZ3	4	183713808	Missense_Mutation	SNP	C	TCGA-J9-A52E-01A-11D-A26M-08		183713808	7440468	8	13889											
HIST1H3H	8357	broad.mit.edu	37	chr6	27777905	27777905	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accggcggcaaggctccgcgCaagcagctggccaccaaggc	9	2	14	16	4	0	0	0	0	0	0	1	0	1	0	4	5	2	5	4	5	3	0			TCGA-J9-A52E-01A-11D-A26M-08	TCGA-J9-A52E-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	840aa1ee-fa15-4fc3-b292-886ab0dbfc06	8486179b-1f5d-4f30-9d89-0672c1e73383	g.chr6:27777905C>A	ENST00000369163.2	+	1	64	c.54C>A	c.(52-54)cgC>cgA	p.R18R	HIST1H2BL_ENST00000377401.2_5'Flank	NM_003536.2	NP_003527.1	P68431	H31_HUMAN	histone cluster 1, H3h	18					blood coagulation (GO:0007596)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|regulation of gene silencing (GO:0060968)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)			haematopoietic_and_lymphoid_tissue(1)|lung(4)|ovary(2)|upper_aerodigestive_tract(3)	10						AGGCTCCGCGCAAGCAGCTGG	0.632																																						ENST00000369163.2																			0				haematopoietic_and_lymphoid_tissue(1)|lung(4)|ovary(2)|upper_aerodigestive_tract(3)	10						c.(52-54)cgC>cgA		histone cluster 1, H3h							36	43	40					6																	27777905		2202	4299	6501	SO:0001819	synonymous_variant	8357				blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding	g.chr6:27777905C>A	Z83735	CCDS4627.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000203813	ENSG00000278828		"Histones / Replication-dependent"	4775	protein-coding gene	gene with protein product		602818	"H3 histone family, member K", "histone 1, H3h"	H3FK		9439656, 12408966	Standard	NM_003536		Approved	H3/k, H3F1K	uc003njm.3	P68431	OTTHUMG00000014483	ENST00000369163.2:c.54C>A	6.37:g.27777905C>A							p.R18R	NM_003536.2	NP_003527.1	P68431	H31_HUMAN			1	64	+			18					A0PJT7|A5PLR1|P02295|P02296|P16106|Q6ISV8|Q6NWP8|Q6NWP9|Q6NXU4|Q71DJ3|Q93081	Silent	SNP	ENST00000369163.2	37	c.54C>A	CCDS4627.1																																																																																				0.632	HIST1H3H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040151.1	NM_003536		12	85	1	0	6.40141e-05	1	6.71367e-05	12	85					A	27777905	C	A	27777905	2	1	288	1	0	0	0	0	0	0	0	1	7162	697	25	5		5	HIST1H3H	6	27777905	Silent	SNP	C	TCGA-J9-A52E-01A-11D-A26M-08		27777905	143337162	9	13890											
TRRAP	8295	broad.mit.edu	37	chr7	98608832	98608832	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gataggcttcgcggaattcgTcctgcatttaaatagactca	11	12	9	9	3	1	1	1	0	0	1	4	3	2	2	1	2	1	2	1	2	5	6			TCGA-J9-A52E-01A-11D-A26M-08	TCGA-J9-A52E-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	840aa1ee-fa15-4fc3-b292-886ab0dbfc06	8486179b-1f5d-4f30-9d89-0672c1e73383	g.chr7:98608832T>G	ENST00000359863.4	+	70	11263	c.11054T>G	c.(11053-11055)gTc>gGc	p.V3685G	AC004893.11_ENST00000360902.1_RNA|TRRAP_ENST00000446306.3_Missense_Mutation_p.V3674G|TRRAP_ENST00000355540.3_Missense_Mutation_p.V3656G	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	3685	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.				chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone deubiquitination (GO:0016578)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|mitotic cell cycle checkpoint (GO:0007093)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PCAF complex (GO:0000125)|STAGA complex (GO:0030914)|Swr1 complex (GO:0000812)|transcription factor TFTC complex (GO:0033276)	phosphotransferase activity, alcohol group as acceptor (GO:0016773)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			GCGGAATTCGTCCTGCATTTA	0.532																																						ENST00000359863.4																			0				NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176						c.(11053-11055)gTc>gGc		transformation/transcription domain-associated protein							124	116	119					7																	98608832		2203	4300	6503	SO:0001583	missense	8295				histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity	g.chr7:98608832T>G	AF076974	CCDS5659.1, CCDS59066.1	7q21.2-q22.1	2010-06-22			ENSG00000196367	ENSG00000196367			12347	protein-coding gene	gene with protein product		603015				9708738, 9885574	Standard	NM_003496		Approved	TR-AP, PAF400, Tra1	uc003upp.3	Q9Y4A5	OTTHUMG00000150403	ENST00000359863.4:c.11054T>G	7.37:g.98608832T>G	ENSP00000352925:p.Val3685Gly					TRRAP_ENST00000446306.3_Missense_Mutation_p.V3674G|TRRAP_ENST00000355540.3_Missense_Mutation_p.V3656G	p.V3685G	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)		70	11263	+	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		3685			PI3K/PI4K.		A4D265|O75218|Q9Y631|Q9Y6H4	Missense_Mutation	SNP	ENST00000359863.4	37	c.11054T>G	CCDS59066.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	20.4|20.4	3.984409|3.984409	0.74474|0.74474	.|.	.|.	ENSG00000196367|ENSG00000196367	ENST00000456197|ENST00000359863;ENST00000355540;ENST00000446306	.|T;T	.|0.78707	.|-1.2;-1.2	5.53|5.53	5.53|5.53	0.82687|0.82687	.|Protein kinase-like domain (1);Phosphatidylinositol 3-/4-kinase, catalytic (4);	.|0.140567	.|0.50627	.|D	.|0.000117	T|T	0.79003|0.79003	0.4373|0.4373	M|M	0.77313|0.77313	2.365|2.365	0.80722|0.80722	D|D	1|1	.|P;P;P	.|0.40970	.|0.688;0.608;0.734	.|B;B;B	.|0.38378	.|0.165;0.272;0.272	T|T	0.82725|0.82725	-0.0315|-0.0315	5|10	.|0.87932	.|D	.|0	.|.	15.6745|15.6745	0.77303|0.77303	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|3656;3413;3685	.|Q9Y4A5-2;Q59FH1;Q9Y4A5	.|.;.;TRRAP_HUMAN	A|G	3414|3685;3656;3673	.|ENSP00000352925:V3685G;ENSP00000347733:V3656G	.|ENSP00000347733:V3656G	S|V	+|+	1|2	0|0	TRRAP|TRRAP	98446768|98446768	1.000000|1.000000	0.71417|0.71417	0.437000|0.437000	0.26809|0.26809	0.936000|0.936000	0.57629|0.57629	8.040000|8.040000	0.89188|0.89188	2.109000|2.109000	0.64355|0.64355	0.459000|0.459000	0.35465|0.35465	TCC|GTC		0.532	TRRAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317978.1	NM_003496		22	123	0	0	0	1	0	22	123					G	98608832	T	G	98608832	3	3	288	1	0	0	0	0	1	0	0	0	16598	1667	58	5	11237	5	TRRAP	7	98608832	Missense_Mutation	SNP	T	TCGA-J9-A52E-01A-11D-A26M-08		98608832	60529831	10	13891											
TMEM140	55281	broad.mit.edu	37	chr7	134849232	134849232	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cggtggcgcgaccagctgctGttcatgagcatcatagtcct	7	10	12	12	3	2	1	2	1	0	0	3	2	3	1	2	2	3	4	2	2	1	2			TCGA-J9-A52E-01A-11D-A26M-08	TCGA-J9-A52E-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	840aa1ee-fa15-4fc3-b292-886ab0dbfc06	8486179b-1f5d-4f30-9d89-0672c1e73383	g.chr7:134849232G>A	ENST00000275767.3	+	2	262	c.39G>A	c.(37-39)ctG>ctA	p.L13L	C7orf49_ENST00000459937.1_Intron	NM_018295.3	NP_060765.4	Q9NV12	TM140_HUMAN	transmembrane protein 140	13						integral component of membrane (GO:0016021)				kidney(1)|large_intestine(2)|lung(2)	5						ACCAGCTGCTGTTCATGAGCA	0.592																																						ENST00000275767.2																			0				kidney(1)|large_intestine(2)|lung(2)	5						c.(37-39)ctG>ctA		transmembrane protein 140							147	128	134					7																	134849232		2203	4300	6503	SO:0001819	synonymous_variant	55281					integral to membrane		g.chr7:134849232G>A	AK001862	CCDS5837.1	7q33	2006-03-17			ENSG00000146859	ENSG00000146859			21870	protein-coding gene	gene with protein product							Standard	NM_018295		Approved	FLJ11000	uc003vsi.3	Q9NV12	OTTHUMG00000155413	ENST00000275767.3:c.39G>A	7.37:g.134849232G>A						C7orf49_ENST00000459937.1_Intron	p.L13L	NM_018295.4	NP_060765.4	Q9NV12	TM140_HUMAN			2	262	+			13					A4D1P9|Q8WUC3	Silent	SNP	ENST00000275767.3	37	c.39G>A	CCDS5837.1																																																																																				0.592	TMEM140-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340017.2	NM_018295		15	125	0	0	0	1	0	15	125					A	134849232	G	A	134849232	2	1	288	1	0	0	0	0	0	0	0	1	16052	1364	48	3		3	TMEM140	7	134849232	Silent	SNP	G	TCGA-J9-A52E-01A-11D-A26M-08	36240400	134849232	24289431	11	13892											
DAPK1	1612	broad.mit.edu	37	chr9	90296532	90296532	+	Nonsense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	caccttcacccctggcttctAagcccacaggtaggaacctc	9	8	7	17	0	2	0	1	0	1	0	3	1	2	1	5	3	2	2	5	3	3	4			TCGA-J9-A52E-01A-11D-A26M-08	TCGA-J9-A52E-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	840aa1ee-fa15-4fc3-b292-886ab0dbfc06	8486179b-1f5d-4f30-9d89-0672c1e73383	g.chr9:90296532A>T	ENST00000408954.3	+	20	2550	c.2215A>T	c.(2215-2217)Aag>Tag	p.K739*	DAPK1_ENST00000469640.2_Nonsense_Mutation_p.K739*|DAPK1_ENST00000358077.5_Nonsense_Mutation_p.K739*|DAPK1_ENST00000491893.1_Nonsense_Mutation_p.K739*|DAPK1_ENST00000472284.1_Nonsense_Mutation_p.K739*	NM_004938.2	NP_004929.2	P53355	DAPK1_HUMAN	death-associated protein kinase 1	739					apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cellular response to interferon-gamma (GO:0071346)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|intracellular signal transduction (GO:0035556)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of translation (GO:0017148)|positive regulation of apoptotic process (GO:0043065)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of apoptotic process (GO:0042981)|regulation of autophagy (GO:0010506)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|calmodulin-dependent protein kinase activity (GO:0004683)|identical protein binding (GO:0042802)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(27)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(3)|stomach(1)	72						CCTGGCTTCTAAGCCCACAGG	0.577									Chronic Lymphocytic Leukemia, Familial Clustering of																													ENST00000469640.2																			0				breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(27)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(3)|stomach(1)	72						c.(2215-2217)Aag>Tag		death-associated protein kinase 1							26	28	27					9																	90296532		1924	4117	6041	SO:0001587	stop_gained	1612	Chronic Lymphocytic Leukemia, Familial Clustering of	Familial Cancer Database	Familial CLL	apoptosis|induction of apoptosis by extracellular signals|intracellular protein kinase cascade	actin cytoskeleton|cytoplasm	ATP binding|calmodulin binding|protein serine/threonine kinase activity	g.chr9:90296532A>T	X76104	CCDS43842.1	9q34.1	2013-01-10			ENSG00000196730	ENSG00000196730		"Ankyrin repeat domain containing"	2674	protein-coding gene	gene with protein product		600831				8530096	Standard	XM_005251757		Approved	DAPK	uc004apd.3	P53355	OTTHUMG00000020150	ENST00000408954.3:c.2215A>T	9.37:g.90296532A>T	ENSP00000386135:p.Lys739*					DAPK1_ENST00000408954.3_Nonsense_Mutation_p.K739*|DAPK1_ENST00000358077.5_Nonsense_Mutation_p.K739*|DAPK1_ENST00000472284.1_Nonsense_Mutation_p.K739*|DAPK1_ENST00000491893.1_Nonsense_Mutation_p.K739*	p.K739*			P53355	DAPK1_HUMAN			20	2590	+			739					B7ZLD2|B7ZLE7|Q14CQ7|Q1W5W0|Q68CP8|Q6ZRZ3|Q9BTL8	Nonsense_Mutation	SNP	ENST00000408954.3	37	c.2215A>T	CCDS43842.1	.	.	.	.	.	.	.	.	.	.	A	38	7.097315	0.98063	.	.	ENSG00000196730	ENST00000358077;ENST00000472284;ENST00000469640;ENST00000408954;ENST00000491893	.	.	.	5.17	4.03	0.46877	.	0.110660	0.37136	N	0.002225	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.5585	0.45131	0.9239:0.0:0.0761:0.0	.	.	.	.	X	739	.	ENSP00000350785:K739X	K	+	1	0	DAPK1	89486352	1.000000	0.71417	0.307000	0.25127	0.111000	0.19643	9.047000	0.93823	1.016000	0.39470	0.454000	0.30748	AAG		0.577	DAPK1-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356843.1	NM_004938		4	13	0	0	0	1	0	4	13					T	90296532	A	T	90296532	4	4	288	1	0	0	0	0	0	1	0	0	4235	363	13	5	2289	5	DAPK1	9	90296532	Nonsense_Mutation	SNP	A	TCGA-J9-A52E-01A-11D-A26M-08		90296532	50916899	12	13893											
TBC1D2	55357	broad.mit.edu	37	chr9	100975410	100975410	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	cttcgtcagaagggccttctCcttctcagccacctttctcc	5	13	6	17	1	4	1	2	0	3	1	8	1	4	1	5	1	1	0	5	1	1	4			TCGA-J9-A52E-01A-11D-A26M-08	TCGA-J9-A52E-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	840aa1ee-fa15-4fc3-b292-886ab0dbfc06	8486179b-1f5d-4f30-9d89-0672c1e73383	g.chr9:100975410C>G	ENST00000375064.1	-	7	1503	c.1465G>C	c.(1465-1467)Gag>Cag	p.E489Q	TBC1D2_ENST00000493589.2_Intron|TBC1D2_ENST00000342112.5_Missense_Mutation_p.E271Q|TBC1D2_ENST00000375066.5_Missense_Mutation_p.E489Q|TBC1D2_ENST00000375063.1_Missense_Mutation_p.E29Q	NM_001267571.1	NP_001254500.1	Q9BYX2	TBD2A_HUMAN	TBC1 domain family, member 2	489					positive regulation of Rab GTPase activity (GO:0032851)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)	cadherin binding (GO:0045296)|Rab GTPase activator activity (GO:0005097)			breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;2.55e-37)		AGGGCCTTCTCCTTCTCAGCC	0.592																																						ENST00000375066.5																			0				breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24						c.(1465-1467)Gag>Cag		TBC1 domain family, member 2							107	98	101					9																	100975410		2203	4300	6503	SO:0001583	missense	55357					cell junction|cytoplasmic membrane-bounded vesicle|nucleus	Rab GTPase activator activity	g.chr9:100975410C>G	AY026527	CCDS35080.1, CCDS59137.1, CCDS75865.1	9q22.32	2011-11-30			ENSG00000095383	ENSG00000095383			18026	protein-coding gene	gene with protein product	"prostate antigen recognized and identified by SEREX"	609871					Standard	NM_018421		Approved	PARIS1, TBC1D2A, Armus	uc011lvb.2	Q9BYX2	OTTHUMG00000020343	ENST00000375064.1:c.1465G>C	9.37:g.100975410C>G	ENSP00000364205:p.Glu489Gln					TBC1D2_ENST00000493589.2_Intron|TBC1D2_ENST00000342112.5_Missense_Mutation_p.E271Q|TBC1D2_ENST00000375064.1_Missense_Mutation_p.E489Q|TBC1D2_ENST00000375063.1_Missense_Mutation_p.E29Q	p.E489Q	NM_018421.3	NP_060891.3	Q9BYX2	TBD2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(323;2.55e-37)	7	1556	-		Myeloproliferative disorder(762;0.0255)	489					B3KWD1|B4DQ05|B9A6J7|Q59EU0|Q5TBQ5|Q6IPC7|Q7L1K8|Q8WYT1|Q9H6A2|Q9NSH4	Missense_Mutation	SNP	ENST00000375064.1	37	c.1465G>C		.	.	.	.	.	.	.	.	.	.	C	16.69	3.192286	0.58017	.	.	ENSG00000095383	ENST00000375064;ENST00000375066;ENST00000342112;ENST00000375063	T;T;T;T	0.14266	2.52;2.73;2.52;2.91	5.43	3.55	0.40652	.	0.158173	0.56097	N	0.000034	T	0.13756	0.0333	L	0.49350	1.555	0.48901	D	0.999729	B;P	0.36683	0.429;0.565	B;B	0.33254	0.077;0.16	T	0.02625	-1.1132	10	0.48119	T	0.1	.	13.2909	0.60270	0.0:0.6669:0.3331:0.0	.	489;489	Q9BYX2;Q9BYX2-2	TBD2A_HUMAN;.	Q	489;489;271;29	ENSP00000364205:E489Q;ENSP00000364207:E489Q;ENSP00000341567:E271Q;ENSP00000364203:E29Q	ENSP00000341567:E271Q	E	-	1	0	TBC1D2	100015231	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	4.629000	0.61290	0.640000	0.30582	0.655000	0.94253	GAG		0.592	TBC1D2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000053366.1	NM_018421		8	17	0	0	0	1	0	8	17					G	100975410	C	G	100975410	3	3	288	1	0	0	0	0	1	0	0	0	15605	864	30	5	1316	5	TBC1D2	9	100975410	Missense_Mutation	SNP	C	TCGA-J9-A52E-01A-11D-A26M-08	10678878	100975410	40238021	13	13894											
C10orf107	219621	broad.mit.edu	37	chr10	63525768	63525768	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atagaaaaattgaaaaaggcCtaaggacttggtacaaggag	19	7	11	4	0	0	2	0	1	0	1	0	4	0	4	1	4	1	1	1	4	8	5			TCGA-J9-A52E-01A-11D-A26M-08	TCGA-J9-A52E-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	840aa1ee-fa15-4fc3-b292-886ab0dbfc06	8486179b-1f5d-4f30-9d89-0672c1e73383	g.chr10:63525768C>G	ENST00000330194.2	+	7	929	c.624C>G	c.(622-624)gcC>gcG	p.A208A		NM_173554.2	NP_775825.1	Q8IVU9	CJ107_HUMAN	chromosome 10 open reading frame 107	208										breast(1)|kidney(1)|lung(4)|prostate(1)|skin(1)	8	Prostate(12;0.016)					TGAAAAAGGCCTAAGGACTTG	0.403																																						ENST00000330194.2																			0				breast(1)|kidney(1)|lung(4)|prostate(1)|skin(1)	8						c.(622-624)gcC>gcG		chromosome 10 open reading frame 107							59	58	59					10																	63525768		2203	4300	6503	SO:0001819	synonymous_variant	219621							g.chr10:63525768C>G	BC041932	CCDS7262.1	10q21.3	2012-06-01			ENSG00000183346	ENSG00000183346			28678	protein-coding gene	gene with protein product						12477932	Standard	NM_173554		Approved	bA63A2.1, Em:AC022398.2, MGC44593	uc010qik.2	Q8IVU9	OTTHUMG00000018295	ENST00000330194.2:c.624C>G	10.37:g.63525768C>G							p.A208A	NM_173554.2	NP_775825.1	Q8IVU9	CJ107_HUMAN			7	929	+	Prostate(12;0.016)		208					Q5T1B8	Silent	SNP	ENST00000330194.2	37	c.624C>G	CCDS7262.1																																																																																				0.403	C10orf107-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048228.2	NM_173554		13	18	0	0	0	1	0	13	18					G	63525768	C	G	63525768	2	3	288	1	0	0	0	0	0	0	0	1	1581	668	24	5		5	C10orf107	10	63525768	Silent	SNP	C	TCGA-J9-A52E-01A-11D-A26M-08		63525768	72008979	14	13895											
GPR26	2849	broad.mit.edu	37	chr10	125426388	125426388	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttccaccagctgtacgcctcGtgcacgctgtgcagccggcg	5	8	12	16	5	0	0	0	0	0	0	2	0	1	0	4	1	5	5	4	1	1	2			TCGA-J9-A52E-01A-11D-A26M-08	TCGA-J9-A52E-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	840aa1ee-fa15-4fc3-b292-886ab0dbfc06	8486179b-1f5d-4f30-9d89-0672c1e73383	g.chr10:125426388G>A	ENST00000284674.1	+	1	518	c.465G>A	c.(463-465)tcG>tcA	p.S155S		NM_153442.3	NP_703143.1	Q8NDV2	GPR26_HUMAN	G protein-coupled receptor 26	155					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(3)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	20		Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)				TGTACGCCTCGTGCACGCTGT	0.692																																						ENST00000284674.1																			0				breast(3)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	20						c.(463-465)tcG>tcA		G protein-coupled receptor 26							15	14	14					10																	125426388		2198	4291	6489	SO:0001819	synonymous_variant	2849				activation of adenylate cyclase activity by G-protein signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr10:125426388G>A		CCDS7636.1	10q26.2-q26.3	2012-08-21			ENSG00000154478	ENSG00000154478		"GPCR / Class A : Orphans"	4481	protein-coding gene	gene with protein product		604847					Standard	NM_153442		Approved		uc001lhh.3	Q8NDV2	OTTHUMG00000019204	ENST00000284674.1:c.465G>A	10.37:g.125426388G>A							p.S155S	NM_153442.3	NP_703143.1	Q8NDV2	GPR26_HUMAN			1	518	+		Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)	155					Q2M2E2	Silent	SNP	ENST00000284674.1	37	c.465G>A	CCDS7636.1																																																																																				0.692	GPR26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050850.1			7	20	0	0	0	1	0	7	20					A	125426388	G	A	125426388	2	1	288	1	0	0	0	0	0	0	0	1	6684	1132	40	1		1	GPR26	10	125426388	Silent	SNP	G	TCGA-J9-A52E-01A-11D-A26M-08	61900620	125426388	10108359	15	13896											
PRKRIR	5612	broad.mit.edu	37	chr11	76062399	76062399	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	taagcatttaagagctttgaGgtgctgttctgagaatatat	12	15	10	4	0	1	3	0	2	1	2	1	4	1	3	0	1	3	4	0	1	5	7			TCGA-J9-A52E-01A-11D-A26M-08	TCGA-J9-A52E-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	840aa1ee-fa15-4fc3-b292-886ab0dbfc06	8486179b-1f5d-4f30-9d89-0672c1e73383	g.chr11:76062399G>A	ENST00000260045.3	-	5	1900	c.1795C>T	c.(1795-1797)Ctc>Ttc	p.L599F	PRKRIR_ENST00000531878.1_5'Flank	NM_004705.2	NP_004696.2	O43422	P52K_HUMAN	protein-kinase, interferon-inducible double stranded RNA dependent inhibitor, repressor of (P58 repressor)	599					negative regulation of cell proliferation (GO:0008285)|response to stress (GO:0006950)|signal transduction (GO:0007165)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			cervix(1)|endometrium(3)|large_intestine(4)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	25						AGAGCTTTGAGGTGCTGTTCT	0.408																																						ENST00000260045.3																			0				cervix(1)|endometrium(3)|large_intestine(4)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	25						c.(1795-1797)Ctc>Ttc		protein-kinase, interferon-inducible double stranded RNA dependent inhibitor, repressor of (P58 repressor)							69	66	67					11																	76062399		2200	4287	6487	SO:0001583	missense	5612				negative regulation of cell proliferation|response to stress|signal transduction		DNA binding|metal ion binding|protein dimerization activity	g.chr11:76062399G>A	AF007393	CCDS8243.1	11q13.5	2013-01-25			ENSG00000137492	ENSG00000137492		"THAP (C2CH-type zinc finger) domain containing"	9440	protein-coding gene	gene with protein product	"THAP domain containing 12"	607374				9447982	Standard	NM_004705		Approved	P52rIPK, DAP4, THAP12	uc001oxh.1	O43422	OTTHUMG00000165280	ENST00000260045.3:c.1795C>T	11.37:g.76062399G>A	ENSP00000260045:p.Leu599Phe						p.L599F	NM_004705.2	NP_004696.2	O43422	P52K_HUMAN			5	1900	-			599					A8K728|Q17RY9|Q8WTW1|Q9Y3Z4	Missense_Mutation	SNP	ENST00000260045.3	37	c.1795C>T	CCDS8243.1	.	.	.	.	.	.	.	.	.	.	G	14.32	2.499028	0.44455	.	.	ENSG00000137492	ENST00000529901;ENST00000260045	T;T	0.22336	1.96;1.96	5.13	5.13	0.70059	Ribonuclease H-like (1);	0.112316	0.64402	D	0.000016	T	0.18173	0.0436	M	0.64997	1.995	0.58432	D	0.999996	P	0.35242	0.492	B	0.30105	0.111	T	0.02539	-1.1144	10	0.15066	T	0.55	.	9.5473	0.39288	0.1636:0.0:0.8364:0.0	.	599	O43422	P52K_HUMAN	F	424;599	ENSP00000436249:L424F;ENSP00000260045:L599F	ENSP00000260045:L599F	L	-	1	0	PRKRIR	75740047	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	3.263000	0.51546	2.607000	0.88179	0.644000	0.83932	CTC		0.408	PRKRIR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383188.1	NM_004705		25	42	0	0	0	1	0	25	42					A	76062399	G	A	76062399	3	1	288	1	0	0	0	0	1	0	0	0	12526	1000	35	3	494	3	PRKRIR	11	76062399	Missense_Mutation	SNP	G	TCGA-J9-A52E-01A-11D-A26M-08		76062399	58944117	16	13897											
TREH	23187	broad.mit.edu	37	chr11	118529706	118529706	+	IGR	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agccacttcctgggcccgacGtaaaggtgccttggccaggc	7	7	13	14	2	0	0	0	0	0	0	1	1	1	0	5	4	2	1	5	4	2	3			TCGA-J9-A52E-01A-11D-A26M-08	TCGA-J9-A52E-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	840aa1ee-fa15-4fc3-b292-886ab0dbfc06	8486179b-1f5d-4f30-9d89-0672c1e73383	g.chr11:118529706G>A	ENST00000361417.2	+	0	5753				TREH_ENST00000530256.1_Missense_Mutation_p.R362C|TREH_ENST00000525958.1_Missense_Mutation_p.R454C|TREH_ENST00000264029.4_Missense_Mutation_p.R485C|TREH_ENST00000397925.1_Missense_Mutation_p.R454C|TREH_ENST00000529101.1_Missense_Mutation_p.R485C	NM_015157.3	NP_055972.1	Q86UU1	PHLB1_HUMAN	pleckstrin homology-like domain, family B, member 1											breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(10)|liver(3)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(1)	46	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)		TGGGCCCGACGTAAAGGTGCC	0.562											OREG0021385	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000529101.1																			0				NS(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|urinary_tract(1)	13						c.(1453-1455)Cgt>Tgt		trehalase (brush-border membrane glycoprotein)							90	95	93					11																	118529706		2000	4166	6166	SO:0001628	intergenic_variant	11181				polysaccharide digestion|trehalose catabolic process	anchored to plasma membrane	alpha,alpha-trehalase activity	g.chr11:118529706G>A		CCDS8401.1, CCDS44750.1	11q23.3	2013-01-10			ENSG00000019144	ENSG00000019144		"Pleckstrin homology (PH) domain containing"	23697	protein-coding gene	gene with protein product		612834				14532993	Standard	NM_015157		Approved	FLJ00141, LL5a, KIAA0638	uc001pts.3	Q86UU1	OTTHUMG00000166341		11.37:g.118529706G>A			OREG0021385	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1489	TREH_ENST00000264029.4_Missense_Mutation_p.R485C|TREH_ENST00000530256.1_Missense_Mutation_p.R362C|TREH_ENST00000525958.1_Missense_Mutation_p.R454C|TREH_ENST00000397925.1_Missense_Mutation_p.R454C	p.R485C			O43280	TREA_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.16e-05)	13	1498	-	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.0564)|all_neural(223;0.112)	485					B0YJ63|B0YJ64|O75133|Q4KMF8|Q8TEQ2	Missense_Mutation	SNP	ENST00000361417.2	37	c.1453C>T	CCDS8401.1	.	.	.	.	.	.	.	.	.	.	G	11.28	1.592081	0.28357	.	.	ENSG00000118094	ENST00000529101;ENST00000530256;ENST00000264029;ENST00000450700;ENST00000525958;ENST00000397925	T;T;T;T;T	0.14516	2.5;2.5;2.5;2.5;2.5	5.3	-0.356	0.12583	Six-hairpin glycosidase-like (1);	0.912032	0.09699	N	0.767253	T	0.10637	0.0260	.	.	.	0.09310	N	1	P;B;B	0.45672	0.864;0.016;0.008	B;B;B	0.41332	0.354;0.004;0.004	T	0.23154	-1.0196	9	0.72032	D	0.01	-0.3283	3.8242	0.08848	0.1426:0.3786:0.357:0.1218	.	454;362;485	E9PNA2;E9PPK1;O43280	.;.;TREA_HUMAN	C	485;362;485;362;454;454	ENSP00000435095:R485C;ENSP00000432640:R362C;ENSP00000264029:R485C;ENSP00000432853:R454C;ENSP00000381020:R454C	ENSP00000264029:R485C	R	-	1	0	TREH	118034916	0.005000	0.15991	0.008000	0.14137	0.441000	0.31987	0.193000	0.17116	0.056000	0.16144	0.655000	0.94253	CGT		0.562	PHLDB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389279.1	NM_015157		11	89	0	0	0	1	0	11	89					A	118529706	G	A	118529706	1	1	288	0	1	0	0	0	0	0	0	0	16466	1145	40	1		1	TREH	11	118529706	IGR	SNP	G	TCGA-J9-A52E-01A-11D-A26M-08	42467307	118529706	16476810	17	13898											
TRAPPC6B	122553	broad.mit.edu	37	chr14	39623491	39623491	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atttgttgtcctgaagtacaTagatgccctgttccaaaaat	12	14	7	8	0	0	2	0	1	0	1	2	2	2	2	3	0	2	3	3	0	5	5	rs538309490		TCGA-J9-A52E-01A-11D-A26M-08	TCGA-J9-A52E-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	840aa1ee-fa15-4fc3-b292-886ab0dbfc06	8486179b-1f5d-4f30-9d89-0672c1e73383	g.chr14:39623491T>C	ENST00000330149.5	-	4	501	c.275A>G	c.(274-276)tAt>tGt	p.Y92C	TRAPPC6B_ENST00000347691.5_Intron|TRAPPC6B_ENST00000557764.1_5'UTR	NM_001079537.1	NP_001073005.1	Q86SZ2	TPC6B_HUMAN	trafficking protein particle complex 6B	92					vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)				large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0128)		CTGAAGTACATAGATGCCCTG	0.318																																						ENST00000330149.5																			0				large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4						c.(274-276)tAt>tGt		trafficking protein particle complex 6B							85	77	79					14																	39623491		1828	4083	5911	SO:0001583	missense	122553				vesicle-mediated transport	endoplasmic reticulum|Golgi apparatus	guanylate cyclase activity|heme binding	g.chr14:39623491T>C	AK025437	CCDS9670.1, CCDS41947.1	14q13.3	2011-10-10			ENSG00000182400	ENSG00000182400		"Trafficking protein particle complex"	23066	protein-coding gene	gene with protein product		610397					Standard	NM_177452		Approved		uc001wut.1	Q86SZ2	OTTHUMG00000140259	ENST00000330149.5:c.275A>G	14.37:g.39623491T>C	ENSP00000330289:p.Tyr92Cys					TRAPPC6B_ENST00000557764.1_5'UTR|TRAPPC6B_ENST00000347691.5_Intron	p.Y92C	NM_001079537.1	NP_001073005.1	Q86SZ2	TPC6B_HUMAN	LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0128)	4	501	-	Hepatocellular(127;0.213)		92					B3KPS2|Q5JPD6|Q86U35|Q86X35	Missense_Mutation	SNP	ENST00000330149.5	37	c.275A>G	CCDS41947.1	.	.	.	.	.	.	.	.	.	.	T	23.6	4.432133	0.83776	.	.	ENSG00000182400	ENST00000330149	T	0.61158	0.13	6.08	6.08	0.98989	NO signalling/Golgi transport  ligand-binding domain (1);	0.106625	0.64402	D	0.000003	D	0.83078	0.5176	H	0.94698	3.57	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	D	0.87778	0.2610	10	0.87932	D	0	-23.2244	16.6512	0.85203	0.0:0.0:0.0:1.0	.	30;92	B4DFZ8;Q86SZ2	.;TPC6B_HUMAN	C	92	ENSP00000330289:Y92C	ENSP00000330289:Y92C	Y	-	2	0	TRAPPC6B	38693242	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.103000	0.77014	2.333000	0.79357	0.482000	0.46254	TAT		0.318	TRAPPC6B-002	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276775.1	NM_177452		4	10	0	0	0	1	0	4	10					C	39623491	T	C	39623491	3	2	288	1	0	0	0	0	1	0	0	0	16461	1406	49	4	213	4	TRAPPC6B	14	39623491	Missense_Mutation	SNP	T	TCGA-J9-A52E-01A-11D-A26M-08		39623491	67726049	18	13899											
CTU2	9780	broad.mit.edu	37	chr16	88780127	88780127	+	IGR	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	accacaccctgaaggaggtcGctttctacaaccgcctgttc	9	9	8	15	2	1	1	0	1	1	0	3	2	1	2	4	2	2	2	4	2	3	3	rs374694184		TCGA-J9-A52E-01A-11D-A26M-08	TCGA-J9-A52E-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	840aa1ee-fa15-4fc3-b292-886ab0dbfc06	8486179b-1f5d-4f30-9d89-0672c1e73383	g.chr16:88780127G>A	ENST00000301015.9	-	0	8072				CTU2_ENST00000453996.2_Missense_Mutation_p.A316T|CTU2_ENST00000567949.1_Missense_Mutation_p.A387T|MIR4722_ENST00000578292.1_RNA|CTU2_ENST00000312060.5_Missense_Mutation_p.A316T|CTU2_ENST00000378384.3_Missense_Mutation_p.A229T	NM_001142864.2	NP_001136336.2	Q92508	PIEZ1_HUMAN	piezo-type mechanosensitive ion channel component 1						cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|detection of mechanical stimulus (GO:0050982)|positive regulation of cell-cell adhesion mediated by integrin (GO:0033634)|positive regulation of integrin activation (GO:0033625)|regulation of membrane potential (GO:0042391)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cation channel activity (GO:0005261)|mechanically-gated ion channel activity (GO:0008381)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|prostate(2)|skin(1)	10						GAAGGAGGTCGCTTTCTACAA	0.637																																						ENST00000567949.1																			0				NS(1)|breast(1)|endometrium(1)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	11						c.(1159-1161)Gct>Act		cytosolic thiouridylase subunit 2 homolog (S. pombe)		G	THR/ALA,THR/ALA	0,4390		0,0,2195	108	100	103		946,946	3.7	1	16		103	2,8596	2.2+/-6.3	0,2,4297	no	missense,missense	CTU2	NM_001012759.1,NM_001012762.1	58,58	0,2,6492	AA,AG,GG		0.0233,0.0,0.0154	possibly-damaging,possibly-damaging	316/516,316/486	88780127	2,12986	2195	4299	6494	SO:0001628	intergenic_variant	348180				tRNA thio-modification|tRNA wobble uridine modification	cytoplasm|protein complex|soluble fraction	protein binding	g.chr16:88780127G>A	D87071	CCDS54058.1	16q24.3	2011-08-31	2011-08-31	2011-08-31	ENSG00000103335	ENSG00000103335			28993	protein-coding gene	gene with protein product		611184	"family with sequence similarity 38, member A"	FAM38A		20813920, 21056836, 21299953, 21696149	Standard	NM_001142864		Approved	KIAA0233	uc010vpb.2	Q92508	OTTHUMG00000156776		16.37:g.88780127G>A						CTU2_ENST00000312060.5_Missense_Mutation_p.A316T|CTU2_ENST00000378384.3_Missense_Mutation_p.A229T|CTU2_ENST00000453996.2_Missense_Mutation_p.A316T	p.A387T			Q2VPK5	CTU2_HUMAN			9	1168	+			316					A6NHT9|A7E2B7|Q0KKZ9	Missense_Mutation	SNP	ENST00000301015.9	37	c.1159G>A	CCDS54058.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.191748	0.78902	0.0	2.33E-4	ENSG00000174177	ENST00000378384;ENST00000312060;ENST00000453996	T;T;T	0.17528	2.27;2.27;2.27	4.66	3.7	0.42460	Rossmann-like alpha/beta/alpha sandwich fold (1);	0.057524	0.64402	D	0.000001	T	0.29524	0.0736	L	0.45698	1.435	0.54753	D	0.999988	D;D;D	0.76494	0.998;0.998;0.999	P;P;D	0.63703	0.842;0.795;0.917	T	0.01198	-1.1421	10	0.34782	T	0.22	.	11.9937	0.53189	0.0872:0.0:0.9128:0.0	.	229;316;316	Q2VPK5-3;Q2VPK5-5;Q2VPK5	.;.;CTU2_HUMAN	T	229;316;316	ENSP00000367635:A229T;ENSP00000308617:A316T;ENSP00000388320:A316T	ENSP00000308617:A316T	A	+	1	0	CTU2	87307628	0.999000	0.42202	0.955000	0.39395	0.930000	0.56654	4.376000	0.59556	1.094000	0.41399	0.655000	0.94253	GCT		0.637	PIEZO1-001	NOVEL	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000345699.4	NM_014745		39	77	0	0	0	1	0	39	77					A	88780127	G	A	88780127	1	1	288	0	1	0	0	0	0	0	0	0	4048	1087	38	1		1	CTU2	16	88780127	IGR	SNP	G	TCGA-J9-A52E-01A-11D-A26M-08		88780127	1574626	19	13900											
ZZEF1	23140	broad.mit.edu	37	chr17	3977524	3977524	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagctgtaaatccagccccCaagacacggcaacatcgggc	12	4	11	14	2	0	1	0	0	0	1	2	2	1	2	3	3	3	3	3	3	4	1			TCGA-J9-A52E-01A-11D-A26M-08	TCGA-J9-A52E-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	840aa1ee-fa15-4fc3-b292-886ab0dbfc06	8486179b-1f5d-4f30-9d89-0672c1e73383	g.chr17:3977524C>A	ENST00000381638.2	-	24	3729	c.3605G>T	c.(3604-3606)tGg>tTg	p.W1202L	ZZEF1_ENST00000574474.1_5'Flank	NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN	zinc finger, ZZ-type with EF-hand domain 1	1202							calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						ATCCAGCCCCCAAGACACGGC	0.587																																						ENST00000381638.2																			0				central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						c.(3604-3606)tGg>tTg		zinc finger, ZZ-type with EF-hand domain 1							179	170	173					17																	3977524		2203	4300	6503	SO:0001583	missense	23140						calcium ion binding|zinc ion binding	g.chr17:3977524C>A	BC035319	CCDS11043.1	17p13.3	2013-01-10	2004-11-03		ENSG00000074755	ENSG00000074755		"Zinc fingers, ZZ-type", "EF-hand domain containing"	29027	protein-coding gene	gene with protein product			"zinc finger, ZZ-type with EF hand domain 1"			9455477	Standard	XM_005256560		Approved	KIAA0399, ZZZ4, FLJ10821	uc002fxe.3	O43149	OTTHUMG00000090741	ENST00000381638.2:c.3605G>T	17.37:g.3977524C>A	ENSP00000371051:p.Trp1202Leu						p.W1202L	NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN			24	3729	-			1202					A7MBM5|Q6NXG0|Q6ZRA1|Q6ZSF4|Q9NVB9	Missense_Mutation	SNP	ENST00000381638.2	37	c.3605G>T	CCDS11043.1	.	.	.	.	.	.	.	.	.	.	C	34	5.366711	0.95900	.	.	ENSG00000074755	ENST00000381638	T	0.58652	0.32	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	T	0.76478	0.3993	M	0.67953	2.075	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.76019	-0.3112	10	0.59425	D	0.04	-9.7744	20.2192	0.98319	0.0:1.0:0.0:0.0	.	1202	O43149	ZZEF1_HUMAN	L	1202	ENSP00000371051:W1202L	ENSP00000371051:W1202L	W	-	2	0	ZZEF1	3924273	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.443000	0.80521	2.780000	0.95670	0.655000	0.94253	TGG		0.587	ZZEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207480.1	NM_015113		22	142	1	0	4.35082e-09	1	4.92329e-09	22	142					A	3977524	C	A	3977524	3	1	288	1	0	0	0	0	1	0	0	0	18252	595	21	5	5408	5	ZZEF1	17	3977524	Missense_Mutation	SNP	C	TCGA-J9-A52E-01A-11D-A26M-08		3977524	77217686	20	13901											
PPP4R1	9989	broad.mit.edu	37	chr18	9595085	9595085	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcgtcaacatttcatcttgtGagacaaagtccagggctgaa	12	10	10	9	1	3	2	2	2	1	1	4	3	4	2	1	1	1	1	1	1	3	2			TCGA-J9-A52E-01A-11D-A26M-08	TCGA-J9-A52E-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	840aa1ee-fa15-4fc3-b292-886ab0dbfc06	8486179b-1f5d-4f30-9d89-0672c1e73383	g.chr18:9595085G>A	ENST00000400556.3	-	3	192	c.119C>T	c.(118-120)tCa>tTa	p.S40L	PPP4R1_ENST00000580583.1_5'Flank|PPP4R1_ENST00000400555.3_Missense_Mutation_p.S23L	NM_001042388.2	NP_001035847.1	Q8TF05	PP4R1_HUMAN	protein phosphatase 4, regulatory subunit 1	40					dephosphorylation (GO:0016311)|protein phosphorylation (GO:0006468)|regulation of catalytic activity (GO:0050790)|signal transduction (GO:0007165)	protein phosphatase 4 complex (GO:0030289)	protein phosphatase type 4 regulator activity (GO:0030362)			large_intestine(1)|skin(2)	3						TTCATCTTGTGAGACAAAGTC	0.403																																					Melanoma(188;1232 2082 5061 11948 35994)	ENST00000400556.3																			0				large_intestine(1)|skin(2)	3						c.(118-120)tCa>tTa		protein phosphatase 4, regulatory subunit 1							134	124	127					18																	9595085		1899	4114	6013	SO:0001583	missense	9989				protein phosphorylation|signal transduction	protein phosphatase 4 complex	protein binding|protein phosphatase type 4 regulator activity	g.chr18:9595085G>A	AF111106	CCDS42412.1, CCDS42413.1	18p11.22	2010-06-18			ENSG00000154845	ENSG00000154845		"Serine/threonine phosphatases / Protein phosphatase 4, regulatory subunits"	9320	protein-coding gene	gene with protein product		604908				10026142	Standard	NM_001042388		Approved	PP4R1	uc002koe.2	Q8TF05	OTTHUMG00000137466	ENST00000400556.3:c.119C>T	18.37:g.9595085G>A	ENSP00000383402:p.Ser40Leu					PPP4R1_ENST00000400555.3_Missense_Mutation_p.S23L	p.S40L	NM_001042388.2	NP_001035847.1	Q8TF05	PP4R1_HUMAN			3	192	-			40					Q99774|Q9UNQ7	Missense_Mutation	SNP	ENST00000400556.3	37	c.119C>T	CCDS42412.1	.	.	.	.	.	.	.	.	.	.	G	14.21	2.468398	0.43839	.	.	ENSG00000154845	ENST00000400556;ENST00000400555	T;T	0.19806	2.12;2.13	4.66	4.66	0.58398	.	0.169942	0.40222	N	0.001149	T	0.37705	0.1013	L	0.44542	1.39	0.48185	D	0.9996	D;D	0.61697	0.983;0.99	P;D	0.66196	0.877;0.942	T	0.03148	-1.1067	9	.	.	.	-14.0452	18.09	0.89472	0.0:0.0:1.0:0.0	.	40;23	Q8TF05;Q8TF05-2	PP4R1_HUMAN;.	L	40;23	ENSP00000383402:S40L;ENSP00000383401:S23L	.	S	-	2	0	PPP4R1	9585085	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.259000	0.58828	2.584000	0.87258	0.563000	0.77884	TCA		0.403	PPP4R1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000268571.1	NM_005134		18	34	0	0	0	1	0	18	34					A	9595085	G	A	9595085	3	1	288	1	0	0	0	0	1	0	0	0	12403	1294	45	3	2805	3	PPP4R1	18	9595085	Missense_Mutation	SNP	G	TCGA-J9-A52E-01A-11D-A26M-08		9595085	68482163	21	13902											
MUC16	94025	broad.mit.edu	37	chr19	9080484	9080484	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccccgtctcctctgctggggCaggccacgtggaatttcctt	4	11	11	15	2	2	0	0	0	2	0	4	1	3	1	5	4	1	2	5	4	1	2	rs371846589		TCGA-J9-A52E-01A-11D-A26M-08	TCGA-J9-A52E-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	840aa1ee-fa15-4fc3-b292-886ab0dbfc06	8486179b-1f5d-4f30-9d89-0672c1e73383	g.chr19:9080484C>A	ENST00000397910.4	-	2	9750	c.9547G>T	c.(9547-9549)Gcc>Tcc	p.A3183S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	3184	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TCTGCTGGGGCAGGCCACGTG	0.478																																						ENST00000397910.4																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(9547-9549)Gcc>Tcc		mucin 16, cell surface associated							143	139	140					19																	9080484		1937	4128	6065	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9080484C>A	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.9547G>T	19.37:g.9080484C>A	ENSP00000381008:p.Ala3183Ser						p.A3183S	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			2	9750	-			3184			Thr-rich.		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.9547G>T	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	c	1.512	-0.549108	0.04024	.	.	ENSG00000181143	ENST00000397910	T	0.02631	4.22	0.926	-1.85	0.07784	.	.	.	.	.	T	0.01627	0.0052	N	0.08118	0	.	.	.	B	0.20052	0.041	B	0.12837	0.008	T	0.42396	-0.9454	8	0.87932	D	0	.	5.3345	0.15949	0.4126:0.5874:0.0:0.0	.	3183	B5ME49	.	S	3183	ENSP00000381008:A3183S	ENSP00000381008:A3183S	A	-	1	0	MUC16	8941484	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.718000	0.00813	-1.093000	0.03058	-0.823000	0.03104	GCC		0.478	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		7	54	1	0	8.12818e-05	1	8.32171e-05	7	54					A	9080484	C	A	9080484	3	1	288	1	0	0	0	0	1	0	0	0	9973	710	25	5	34308	5	MUC16	19	9080484	Missense_Mutation	SNP	C	TCGA-J9-A52E-01A-11D-A26M-08		9080484	50048499	22	13903											
CEACAM16	388551	broad.mit.edu	37	chr19	45211203	45211203	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggccaggacgtaacactgacCgtgcagggctaccccaagga	11	4	13	13	2	0	1	0	1	0	0	0	3	0	3	4	4	3	3	4	4	3	2			TCGA-J9-A52E-01A-11D-A26M-08	TCGA-J9-A52E-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	840aa1ee-fa15-4fc3-b292-886ab0dbfc06	8486179b-1f5d-4f30-9d89-0672c1e73383	g.chr19:45211203C>T	ENST00000405314.2	+	5	1108	c.1011C>T	c.(1009-1011)acC>acT	p.T337T	CEACAM16_ENST00000587331.1_Silent_p.T337T|CTB-171A8.1_ENST00000590796.1_RNA			Q2WEN9	CEA16_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 16	337					sensory perception of sound (GO:0007605)	extracellular region (GO:0005576)|stereocilium bundle tip (GO:0032426)				endometrium(3)|large_intestine(2)|lung(3)|ovary(1)	9	Lung NSC(12;0.000698)|all_lung(12;0.002)	Prostate(69;0.0376)|Ovarian(192;0.231)				TAACACTGACCGTGCAGGGCT	0.672																																						ENST00000587331.1																			0				endometrium(3)|large_intestine(2)|lung(3)|ovary(1)	9						c.(1009-1011)acC>acT		carcinoembryonic antigen-related cell adhesion molecule 16							16	17	17					19																	45211203		2155	4238	6393	SO:0001819	synonymous_variant	388551							g.chr19:45211203C>T		CCDS54278.1	19q13.31	2014-01-27			ENSG00000213892	ENSG00000213892		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	31948	protein-coding gene	gene with protein product		614591				21368133	Standard	NM_001039213		Approved	DFNA4B	uc010xxd.2	Q2WEN9	OTTHUMG00000151519	ENST00000405314.2:c.1011C>T	19.37:g.45211203C>T						CTB-171A8.1_ENST00000590796.1_RNA|CEACAM16_ENST00000405314.2_Silent_p.T337T	p.T337T	NM_001039213.2	NP_001034302.2	A7LI12	A7LI12_HUMAN			6	1226	+	Lung NSC(12;0.000698)|all_lung(12;0.002)	Prostate(69;0.0376)|Ovarian(192;0.231)	337					A7LI12	Silent	SNP	ENST00000405314.2	37	c.1011C>T	CCDS54278.1																																																																																				0.672	CEACAM16-201	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding		XM_371177		4	8	0	0	0	1	0	4	8					T	45211203	C	T	45211203	2	4	288	1	0	0	0	0	0	0	0	1	3188	639	23	2		2	CEACAM16	19	45211203	Silent	SNP	C	TCGA-J9-A52E-01A-11D-A26M-08	36130719	45211203	13917780	23	13904											
NLRP4	147945	broad.mit.edu	37	chr19	56372898	56372898	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgaggcatcccagctgtcGccttcagaagcttgggtgag	7	9	14	11	1	1	3	1	2	0	1	3	3	2	3	2	2	2	4	2	2	1	2	rs368338379		TCGA-J9-A52E-01A-11D-A26M-08	TCGA-J9-A52E-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	840aa1ee-fa15-4fc3-b292-886ab0dbfc06	8486179b-1f5d-4f30-9d89-0672c1e73383	g.chr19:56372898G>A	ENST00000301295.6	+	4	2425	c.2003G>A	c.(2002-2004)cGc>cAc	p.R668H	NLRP4_ENST00000346986.5_Missense_Mutation_p.R668H|NLRP4_ENST00000587891.1_Missense_Mutation_p.R593H	NM_134444.4	NP_604393.2	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	668					inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of type I interferon production (GO:0032481)|regulation of type I interferon production (GO:0032479)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		CCCAGCTGTCGCCTTCAGAAG	0.557																																						ENST00000301295.6																			0				breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42						c.(2002-2004)cGc>cAc		NLR family, pyrin domain containing 4		G	HIS/ARG	0,4406		0,0,2203	105	93	97		2003	-9	0	19		97	1,8599	1.2+/-3.3	0,1,4299	no	missense	NLRP4	NM_134444.4	29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	668/995	56372898	1,13005	2203	4300	6503	SO:0001583	missense	147945						ATP binding	g.chr19:56372898G>A	AF479747	CCDS12936.1	19q13.43	2009-03-27	2006-12-08	2006-12-08				"Nucleotide-binding domain and leucine rich repeat containing"	22943	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 4", "cancer/testis antigen 58"	609645	"NACHT, leucine rich repeat and PYD containing 4"	NALP4		12563287, 12019269	Standard	NM_134444		Approved	PYPAF4, FLJ32126, PAN2, RNH2, CLR19.5, CT58	uc002qmd.4	Q96MN2		ENST00000301295.6:c.2003G>A	19.37:g.56372898G>A	ENSP00000301295:p.Arg668His					NLRP4_ENST00000587891.1_Missense_Mutation_p.R593H|NLRP4_ENST00000346986.5_Missense_Mutation_p.R668H	p.R668H	NM_134444.4	NP_604393.2	Q96MN2	NALP4_HUMAN		GBM - Glioblastoma multiforme(193;0.0606)	4	2425	+		Colorectal(82;0.0002)|Ovarian(87;0.221)	668					Q86W87|Q96AY6	Missense_Mutation	SNP	ENST00000301295.6	37	c.2003G>A	CCDS12936.1	.	.	.	.	.	.	.	.	.	.	G	8.800	0.932783	0.18131	0.0	1.16E-4	ENSG00000160505	ENST00000301295;ENST00000346986	D;D	0.88124	-2.34;-2.34	4.49	-8.97	0.00758	.	.	.	.	.	T	0.66752	0.2821	N	0.12746	0.255	0.09310	N	1	B;B;B	0.12630	0.006;0.001;0.001	B;B;B	0.08055	0.003;0.002;0.001	T	0.54180	-0.8332	9	0.32370	T	0.25	.	2.8286	0.05492	0.2771:0.1511:0.4165:0.1553	.	668;593;668	Q96MN2-2;Q96MN2-3;Q96MN2	.;.;NALP4_HUMAN	H	668	ENSP00000301295:R668H;ENSP00000344787:R668H	ENSP00000301295:R668H	R	+	2	0	NLRP4	61064710	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-1.076000	0.03420	-2.404000	0.00576	-1.553000	0.00894	CGC		0.557	NLRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457367.2	NM_134444		20	39	0	0	0	1	0	20	39					A	56372898	G	A	56372898	3	1	288	1	0	0	0	0	1	0	0	0	10479	1087	38	1	2013	1	NLRP4	19	56372898	Missense_Mutation	SNP	G	TCGA-J9-A52E-01A-11D-A26M-08	11161695	56372898	2756085	24	13905											
MC3R	4159	broad.mit.edu	37	chr20	54823997	54823997	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cagcaaccagagcagcagcgCcttctgtgagcaggtcttca	10	7	11	13	1	3	2	1	1	2	1	3	2	3	2	2	1	6	4	2	1	1	2			TCGA-J9-A52E-01A-11D-A26M-08	TCGA-J9-A52E-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	840aa1ee-fa15-4fc3-b292-886ab0dbfc06	8486179b-1f5d-4f30-9d89-0672c1e73383	g.chr20:54823997C>A	ENST00000243911.2	+	1	210	c.98C>A	c.(97-99)gCc>gAc	p.A33D		NM_019888.3	NP_063941.3	P41968	MC3R_HUMAN	melanocortin 3 receptor	33					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|homoiothermy (GO:0042309)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cAMP biosynthetic process (GO:0030819)|regulation of blood pressure (GO:0008217)|regulation of heart rate (GO:0002027)|sodium ion homeostasis (GO:0055078)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	melanocortin receptor activity (GO:0004977)|melanocyte-stimulating hormone receptor activity (GO:0004980)|neuropeptide binding (GO:0042923)|peptide hormone binding (GO:0017046)			breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(3)|skin(1)	26			Colorectal(105;0.202)			AGCAGCAGCGCCTTCTGTGAG	0.562																																						ENST00000243911.2																			0				breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(3)|skin(1)	26						c.(97-99)gCc>gAc		melanocortin 3 receptor							123	114	117					20																	54823997		2203	4300	6503	SO:0001583	missense	4159				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	melanocyte-stimulating hormone receptor activity|neuropeptide binding|protein binding	g.chr20:54823997C>A		CCDS13449.2	20q13.2-q13.3	2012-08-10			ENSG00000124089	ENSG00000124089		"GPCR / Class A : Melanocortin receptors"	6931	protein-coding gene	gene with protein product		155540				8463333	Standard	NM_019888		Approved	MC3	uc002xxb.2	P41968	OTTHUMG00000032785	ENST00000243911.2:c.98C>A	20.37:g.54823997C>A	ENSP00000243911:p.Ala33Asp						p.A33D	NM_019888.3	NP_063941.3	P41968	MC3R_HUMAN	Colorectal(105;0.202)		1	210	+			70					Q4KN27|Q9H517	Missense_Mutation	SNP	ENST00000243911.2	37	c.98C>A	CCDS13449.2	.	.	.	.	.	.	.	.	.	.	C	8.621	0.891414	0.17613	.	.	ENSG00000124089	ENST00000243911	T	0.35789	1.29	5.01	4.07	0.47477	.	0.488989	0.19418	N	0.114767	T	0.21881	0.0527	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.19353	-1.0308	10	0.52906	T	0.07	.	14.3606	0.66768	0.0:0.1703:0.8297:0.0	.	70	P41968	MC3R_HUMAN	D	33	ENSP00000243911:A33D	ENSP00000243911:A33D	A	+	2	0	MC3R	54257404	0.029000	0.19370	0.006000	0.13384	0.237000	0.25408	-0.229000	0.09098	1.109000	0.41680	0.650000	0.86243	GCC		0.562	MC3R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079786.2			31	112	1	0	1.26612e-14	1	1.51231e-14	31	112					A	54823997	C	A	54823997	3	1	288	1	0	0	0	0	1	0	0	0	9365	739	26	5	100	5	MC3R	20	54823997	Missense_Mutation	SNP	C	TCGA-J9-A52E-01A-11D-A26M-08		54823997	8201523	25	13906											
SYCP2	10388	broad.mit.edu	37	chr20	58443955	58443955	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ctcttccttcactagacttgGataatgaagatgctaaatga	13	13	7	8	0	2	4	1	2	1	2	3	5	3	5	1	1	1	1	1	1	5	6			TCGA-J9-A52E-01A-11D-A26M-08	TCGA-J9-A52E-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	840aa1ee-fa15-4fc3-b292-886ab0dbfc06	8486179b-1f5d-4f30-9d89-0672c1e73383	g.chr20:58443955G>T	ENST00000357552.3	-	37	3992	c.3767C>A	c.(3766-3768)tCc>tAc	p.S1256Y	SYCP2_ENST00000371001.2_Missense_Mutation_p.S1256Y			Q9BX26	SYCP2_HUMAN	synaptonemal complex protein 2	1256					female meiotic division (GO:0007143)|fertilization (GO:0009566)|male genitalia morphogenesis (GO:0048808)|male meiosis (GO:0007140)|negative regulation of apoptotic process (GO:0043066)|synaptonemal complex assembly (GO:0007130)	lateral element (GO:0000800)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	DNA binding (GO:0003677)			NS(4)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;1.19e-09)			ACTAGACTTGGATAATGAAGA	0.313																																						ENST00000357552.3																			0				NS(4)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53						c.(3766-3768)tCc>tAc		synaptonemal complex protein 2							111	103	105					20																	58443955		2203	4299	6502	SO:0001583	missense	10388				cell division|meiotic prophase I|synaptonemal complex assembly		DNA binding	g.chr20:58443955G>T	Y08982	CCDS13482.1	20q13.33	2007-07-02			ENSG00000196074	ENSG00000196074			11490	protein-coding gene	gene with protein product		604105				10341103, 9592139	Standard	NM_014258		Approved	SCP2	uc002yaz.3	Q9BX26	OTTHUMG00000032872	ENST00000357552.3:c.3767C>A	20.37:g.58443955G>T	ENSP00000350162:p.Ser1256Tyr					SYCP2_ENST00000371001.2_Missense_Mutation_p.S1256Y	p.S1256Y			Q9BX26	SYCP2_HUMAN	BRCA - Breast invasive adenocarcinoma(7;1.19e-09)		37	3992	-	all_lung(29;0.00344)		1256					A2RUE5|O75763|Q5JX11|Q9NTX8|Q9UG27	Missense_Mutation	SNP	ENST00000357552.3	37	c.3767C>A	CCDS13482.1	.	.	.	.	.	.	.	.	.	.	G	11.06	1.526866	0.27299	.	.	ENSG00000196074	ENST00000371001;ENST00000357552	T;T	0.27557	1.66;1.66	5.13	4.18	0.49190	.	0.000000	0.64402	D	0.000002	T	0.48150	0.1484	M	0.66939	2.045	0.09310	N	0.999999	D	0.63880	0.993	D	0.63113	0.911	T	0.32534	-0.9903	10	0.87932	D	0	-1.891	11.1565	0.48491	0.0895:0.0:0.9105:0.0	.	1256	Q9BX26	SYCP2_HUMAN	Y	1256	ENSP00000360040:S1256Y;ENSP00000350162:S1256Y	ENSP00000350162:S1256Y	S	-	2	0	SYCP2	57877350	0.224000	0.23674	0.056000	0.19401	0.035000	0.12851	1.611000	0.36879	2.830000	0.97506	0.585000	0.79938	TCC		0.313	SYCP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079930.3	NM_014258		5	25	1	0	0.184627	1	0.184627	5	25					T	58443955	G	T	58443955	3	4	288	1	0	0	0	0	1	0	0	0	15429	1174	41	5	861	5	SYCP2	20	58443955	Missense_Mutation	SNP	G	TCGA-J9-A52E-01A-11D-A26M-08	3619958	58443955	4581565	26	13907											
ELFN2	114794	broad.mit.edu	37	chr22	37770517	37770517	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaaggtgtactcagtgtgcGcccgcagtttgtccagcgtc	7	10	13	11	3	1	1	1	0	0	1	3	1	2	1	2	1	3	3	2	1	2	2	rs140802260		TCGA-J9-A52E-01A-11D-A26M-08	TCGA-J9-A52E-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	840aa1ee-fa15-4fc3-b292-886ab0dbfc06	8486179b-1f5d-4f30-9d89-0672c1e73383	g.chr22:37770517G>A	ENST00000402918.2	-	3	1843	c.1058C>T	c.(1057-1059)gCg>gTg	p.A353V	RP1-63G5.8_ENST00000609322.1_RNA|RP1-63G5.5_ENST00000430883.1_RNA|ELFN2_ENST00000435824.1_5'Flank	NM_052906.3	NP_443138.2	Q5R3F8	PPR29_HUMAN	extracellular leucine-rich repeat and fibronectin type III domain containing 2	353	Fibronectin type-III.				negative regulation of phosphatase activity (GO:0010923)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	phosphatase binding (GO:0019902)|protein phosphatase inhibitor activity (GO:0004864)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	35	Melanoma(58;0.0574)					CTCAGTGTGCGCCCGCAGTTT	0.587													G|||	1	0.000199681	0	0	5008	,	,		20709	0		0.001	False		,,,				2504	0					ENST00000402918.1																			0				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	35						c.(1057-1059)gCg>gTg		extracellular leucine-rich repeat and fibronectin type III domain containing 2		G	VAL/ALA	1,4405	2.1+/-5.4	0,1,2202	230	208	215		1058	4	1	22	dbSNP_134	215	4,8596	3.7+/-12.6	0,4,4296	yes	missense	ELFN2	NM_052906.3	64	0,5,6498	AA,AG,GG		0.0465,0.0227,0.0384	benign	353/821	37770517	5,13001	2203	4300	6503	SO:0001583	missense	114794					cell surface|integral to membrane		g.chr22:37770517G>A	BC041596	CCDS33642.1	22q13.1	2013-02-11	2011-10-27	2011-10-27	ENSG00000166897	ENSG00000166897		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "Fibronectin type III domain containing"	29396	protein-coding gene	gene with protein product			"leucine rich repeat containing 62", "extracellular leucine-rich repeat and fibronectin type III containing 2", "extracellular leucine-rich repeat and fibronectin type III domain containing 2", "protein phosphatase 1, regulatory subunit 29"	LRRC62, PPP1R29		17868438	Standard	XR_244427		Approved	dJ63G5.3, KIAA1904	uc003asq.4	Q5R3F8	OTTHUMG00000150558	ENST00000402918.2:c.1058C>T	22.37:g.37770517G>A	ENSP00000385277:p.Ala353Val					ELFN2_ENST00000349653.3_Missense_Mutation_p.A353V|RP1-63G5.5_ENST00000430883.1_RNA	p.A353V	NM_052906.3	NP_443138.2	Q5R3F8	LRFN6_HUMAN			3	1843	-	Melanoma(58;0.0574)		353			Fibronectin type-III.		Q96PY3	Missense_Mutation	SNP	ENST00000402918.2	37	c.1058C>T	CCDS33642.1	9	0.004120879120879121	2	0.0040650406504065045	0	0.0	1	0.0017482517482517483	6	0.0079155672823219	G	13.46	2.244963	0.39697	2.27E-4	4.65E-4	ENSG00000166897	ENST00000349653;ENST00000402918	T;T	0.04706	3.57;3.57	5.24	4.01	0.46588	.	0.118729	0.56097	D	0.000025	T	0.03651	0.0104	L	0.36672	1.1	0.38828	D	0.955773	B	0.15141	0.012	B	0.08055	0.003	T	0.34129	-0.9841	10	0.46703	T	0.11	-33.3643	14.7002	0.69150	0.0823:0.0:0.9177:0.0	.	353	Q5R3F8	PPR29_HUMAN	V	353	ENSP00000300147:A353V;ENSP00000385277:A353V	ENSP00000300147:A353V	A	-	2	0	ELFN2	36100463	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.858000	0.86971	2.444000	0.82710	0.609000	0.83330	GCG		0.587	ELFN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318900.2	NM_052906		26	76	0	0	0	1	0	26	76					A	37770517	G	A	37770517	3	1	288	1	0	0	0	0	1	0	0	0	5058	1087	38	1	1408	1	ELFN2	22	37770517	Missense_Mutation	SNP	G	TCGA-J9-A52E-01A-11D-A26M-08		37770517	13534049	27	13908											
MAFF	23764	broad.mit.edu	37	chr22	38609879	38609879	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acatgtctgtggatcccctaTccagcaaagctctaaaggtg	11	10	9	11	0	2	0	0	0	2	0	4	1	4	1	3	2	2	2	3	2	4	2	rs377667070		TCGA-J9-A52E-01A-11D-A26M-08	TCGA-J9-A52E-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	840aa1ee-fa15-4fc3-b292-886ab0dbfc06	8486179b-1f5d-4f30-9d89-0672c1e73383	g.chr22:38609879T>C	ENST00000338483.2	+	2	381	c.19T>C	c.(19-21)Tcc>Ccc	p.S7P	MAFF_ENST00000538999.1_Intron|MAFF_ENST00000407965.1_Missense_Mutation_p.S7P|MAFF_ENST00000426621.2_Missense_Mutation_p.S7P|MAFF_ENST00000538320.1_Missense_Mutation_p.S7P			Q9ULX9	MAFF_HUMAN	v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog F	7					blood coagulation (GO:0007596)|in utero embryonic development (GO:0001701)|parturition (GO:0007567)|regulation of epidermal cell differentiation (GO:0045604)|skeletal muscle cell differentiation (GO:0035914)|transcription from RNA polymerase II promoter (GO:0006366)	nucleoplasm (GO:0005654)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			lung(2)|skin(1)	3	Melanoma(58;0.045)					GGATCCCCTATCCAGCAAAGC	0.527																																						ENST00000338483.2																			0				lung(2)|skin(1)	3						c.(19-21)Tcc>Ccc		v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog F		T	PRO/SER,PRO/SER,,PRO/SER	1,4405	2.1+/-5.4	0,1,2202	126	104	111		19,19,,19	4	1	22		111	0,8600		0,0,4300	no	missense,missense,intron,missense	MAFF	NM_001161572.1,NM_001161573.1,NM_001161574.1,NM_012323.3	74,74,,74	0,1,6502	CC,CT,TT		0.0,0.0227,0.0077	benign,benign,,benign	7/165,7/165,,7/165	38609879	1,13005	2203	4300	6503	SO:0001583	missense	23764				blood coagulation|parturition|transcription from RNA polymerase II promoter	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr22:38609879T>C	AJ010857	CCDS13968.1, CCDS54528.1	22q13.1	2013-07-09	2013-07-09		ENSG00000185022	ENSG00000185022			6780	protein-coding gene	gene with protein product		604877				10591208	Standard	NM_012323		Approved	hMafF	uc011anr.2	Q9ULX9	OTTHUMG00000151163	ENST00000338483.2:c.19T>C	22.37:g.38609879T>C	ENSP00000345393:p.Ser7Pro					MAFF_ENST00000538999.1_Intron|MAFF_ENST00000538320.1_Missense_Mutation_p.S7P|MAFF_ENST00000426621.2_Missense_Mutation_p.S7P|MAFF_ENST00000407965.1_Missense_Mutation_p.S7P	p.S7P			Q9ULX9	MAFF_HUMAN			2	381	+	Melanoma(58;0.045)		7					B4DV49|Q9Y525	Missense_Mutation	SNP	ENST00000338483.2	37	c.19T>C	CCDS13968.1	.	.	.	.	.	.	.	.	.	.	T	11.89	1.774460	0.31411	2.27E-4	0.0	ENSG00000185022	ENST00000338483;ENST00000538320;ENST00000417948;ENST00000426621;ENST00000407965	D;D;D;D;D	0.83673	-1.75;-1.75;-1.74;-1.75;-1.75	4.03	4.03	0.46877	.	0.422745	0.23498	N	0.047525	T	0.71584	0.3357	N	0.25647	0.755	0.80722	D	1	B	0.11235	0.004	B	0.09377	0.004	T	0.66176	-0.5989	10	0.33940	T	0.23	-15.5376	10.5182	0.44903	0.0:0.0:0.0:1.0	.	7	Q9ULX9	MAFF_HUMAN	P	7	ENSP00000345393:S7P;ENSP00000442060:S7P;ENSP00000416493:S7P;ENSP00000388882:S7P;ENSP00000384094:S7P	ENSP00000345393:S7P	S	+	1	0	MAFF	36939825	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	2.878000	0.48515	1.483000	0.48342	0.383000	0.25322	TCC		0.527	MAFF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321624.1	NM_001161572		7	39	0	0	0	1	0	7	39					C	38609879	T	C	38609879	3	2	288	1	0	0	0	0	1	0	0	0	9159	1435	50	4	21	4	MAFF	22	38609879	Missense_Mutation	SNP	T	TCGA-J9-A52E-01A-11D-A26M-08	839362	38609879	12694687	28	13909											
BMX	660	broad.mit.edu	37	chrX	15574250	15574250	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgtcttccattgaaccacttCgggaaaaagacaagcattga	14	10	8	9	1	1	3	0	2	1	1	3	4	2	4	2	1	2	1	2	1	4	4			TCGA-J9-A52E-01A-11D-A26M-08	TCGA-J9-A52E-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	840aa1ee-fa15-4fc3-b292-886ab0dbfc06	8486179b-1f5d-4f30-9d89-0672c1e73383	g.chrX:15574250C>T	ENST00000357607.2	+	19	2196	c.2008C>T	c.(2008-2010)Cgg>Tgg	p.R670W	BMX_ENST00000342014.6_Missense_Mutation_p.R670W|BMX_ENST00000348343.6_Missense_Mutation_p.R670W			P51813	BMX_HUMAN	BMX non-receptor tyrosine kinase	670	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		R -> W (in a lung large cell carcinoma sample; somatic mutation). {ECO:0000269|PubMed:17344846}.		apoptotic process (GO:0006915)|cell adhesion (GO:0007155)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|intracellular signal transduction (GO:0035556)|mesoderm development (GO:0007498)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|response to stress (GO:0006950)|signal transduction (GO:0007165)	cytosol (GO:0005829)|ruffle membrane (GO:0032587)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)|signal transducer activity (GO:0004871)	p.R670W(3)		breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(14)|ovary(2)|urinary_tract(3)	30	Hepatocellular(33;0.183)					TGAACCACTTCGGGAAAAAGA	0.383																																						ENST00000357607.2																			3	Substitution - Missense(3)	p.R670W(3)	lung(2)|urinary_tract(1)	breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(14)|ovary(2)|urinary_tract(3)	30						c.(2008-2010)Cgg>Tgg		BMX non-receptor tyrosine kinase							165	159	161					X																	15574250		2203	4300	6503	SO:0001583	missense	660				cellular component disassembly involved in apoptosis|intracellular signal transduction|mesoderm development	cytosol	ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding|signal transducer activity	g.chrX:15574250C>T	AF045459	CCDS14168.1	Xp22.2	2013-05-14			ENSG00000102010	ENSG00000102010		"Pleckstrin homology (PH) domain containing", "SH2 domain containing"	1079	protein-coding gene	gene with protein product	"BTK-like on X chromosome"	300101				7970727	Standard	NM_203281		Approved	ETK, PSCTK3	uc004cwx.4	P51813	OTTHUMG00000021180	ENST00000357607.2:c.2008C>T	X.37:g.15574250C>T	ENSP00000350224:p.Arg670Trp					BMX_ENST00000348343.6_Missense_Mutation_p.R670W|BMX_ENST00000342014.6_Missense_Mutation_p.R670W	p.R670W			P51813	BMX_HUMAN			19	2196	+	Hepatocellular(33;0.183)		670		R -> W (in a lung large cell carcinoma sample; somatic mutation).	Protein kinase.		A6NIH9|O60564|Q12871	Missense_Mutation	SNP	ENST00000357607.2	37	c.2008C>T	CCDS14168.1	.	.	.	.	.	.	.	.	.	.	C	19.70	3.876967	0.72180	.	.	ENSG00000102010	ENST00000357607;ENST00000348343;ENST00000342014	T;T;T	0.77620	-1.11;-1.11;-1.11	5.98	5.11	0.69529	Protein kinase, catalytic domain (1);	0.571037	0.15991	N	0.234799	T	0.73110	0.3545	L	0.45352	1.415	0.33273	D	0.561303	D	0.71674	0.998	P	0.46026	0.501	T	0.80547	-0.1334	10	0.62326	D	0.03	.	10.3445	0.43899	0.0:0.9054:0.0:0.0946	.	670	P51813	BMX_HUMAN	W	670	ENSP00000350224:R670W;ENSP00000308774:R670W;ENSP00000340082:R670W	ENSP00000340082:R670W	R	+	1	2	BMX	15484171	1.000000	0.71417	0.998000	0.56505	0.979000	0.70002	2.215000	0.42862	2.508000	0.84585	0.600000	0.82982	CGG		0.383	BMX-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055877.1	NM_001721		33	29	0	0	0	1	0	33	29					T	15574250	C	T	15574250	3	4	288	1	0	0	0	0	1	0	0	0	1473	875	31	2	2078	2	BMX	23	15574250	Missense_Mutation	SNP	C	TCGA-J9-A52E-01A-11D-A26M-08		15574250	139696310	29	13910											
SRPX2	27286	broad.mit.edu	37	chrX	99925824	99925824	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcaatttcagcgcctcactcGctcctacttcaacatggtgt	8	12	7	14	2	3	0	3	0	0	0	5	0	4	0	2	1	3	2	2	1	3	3			TCGA-J9-A52E-01A-11D-A26M-08	TCGA-J9-A52E-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	840aa1ee-fa15-4fc3-b292-886ab0dbfc06	8486179b-1f5d-4f30-9d89-0672c1e73383	g.chrX:99925824G>A	ENST00000373004.3	+	11	1666	c.1238G>A	c.(1237-1239)cGc>cAc	p.R413H	RP11-524D16__A.3_ENST00000568809.1_RNA	NM_014467.2	NP_055282.1	O60687	SRPX2_HUMAN	sushi-repeat containing protein, X-linked 2	413					angiogenesis (GO:0001525)|cell motility (GO:0048870)|positive regulation of cell migration involved in sprouting angiogenesis (GO:0090050)|positive regulation of synapse assembly (GO:0051965)|regulation of phosphorylation (GO:0042325)|single organismal cell-cell adhesion (GO:0016337)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|excitatory synapse (GO:0060076)|extracellular space (GO:0005615)|synaptic membrane (GO:0097060)	hepatocyte growth factor binding (GO:0036458)|identical protein binding (GO:0042802)|receptor binding (GO:0005102)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(10)|ovary(2)|upper_aerodigestive_tract(1)	19						CGCCTCACTCGCTCCTACTTC	0.517											OREG0019890	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000373004.3																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(10)|ovary(2)|upper_aerodigestive_tract(1)	19						c.(1237-1239)cGc>cAc		sushi-repeat containing protein, X-linked 2							158	123	135					X																	99925824		2203	4300	6503	SO:0001583	missense	27286				angiogenesis|cell motility|cell-cell adhesion|positive regulation of cell migration involved in sprouting angiogenesis|regulation of phosphorylation	cytoplasm|extracellular region	receptor binding	g.chrX:99925824G>A	AF393649	CCDS14471.1	Xq21.33-q23	2011-01-25	2011-01-25		ENSG00000102359	ENSG00000102359			30668	protein-coding gene	gene with protein product		300642	"sushi-repeat-containing protein, X-linked 2"			9864177	Standard	NM_014467		Approved	SRPUL	uc004egb.3	O60687	OTTHUMG00000022003	ENST00000373004.3:c.1238G>A	X.37:g.99925824G>A	ENSP00000362095:p.Arg413His		OREG0019890	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1347		p.R413H	NM_014467.2	NP_055282.1	O60687	SRPX2_HUMAN			11	1666	+			413					B3KQT3|Q8WW85	Missense_Mutation	SNP	ENST00000373004.3	37	c.1238G>A	CCDS14471.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.130519	0.77549	.	.	ENSG00000102359	ENST00000373004	T	0.44482	0.92	5.1	3.32	0.38043	.	0.102319	0.64402	D	0.000008	T	0.49830	0.1580	L	0.38175	1.15	0.44247	D	0.997098	D	0.59767	0.986	P	0.62014	0.897	T	0.37549	-0.9701	9	.	.	.	-2.7336	14.5827	0.68302	0.0:0.2856:0.7144:0.0	.	413	O60687	SRPX2_HUMAN	H	413	ENSP00000362095:R413H	.	R	+	2	0	SRPX2	99812480	0.981000	0.34729	0.992000	0.48379	0.997000	0.91878	1.600000	0.36762	0.534000	0.28695	0.529000	0.55759	CGC		0.517	SRPX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057486.1	NM_014467		19	14	0	0	0	1	0	19	14					A	99925824	G	A	99925824	3	1	288	1	0	0	0	0	1	0	0	0	15164	1087	38	1	1276	1	SRPX2	23	99925824	Missense_Mutation	SNP	G	TCGA-J9-A52E-01A-11D-A26M-08	84351574	99925824	55344736	30	13911											
PRAMEF11	440560	broad.mit.edu	37	chr1	12887308	12887308	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tggcccaggtatggggtaaaCtgtgtcaggatgggcagtat	9	10	16	6	0	1	0	1	0	0	0	1	1	1	1	1	6	1	4	1	6	4	3			TCGA-J9-A8CK-01A-11D-A34U-08	TCGA-J9-A8CK-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc4c0fab-2cb2-4203-a0ed-c5fef2446f5e	aca8551c-6477-4cd2-a7d0-72b093c56a69	g.chr1:12887308C>T	ENST00000535591.1	-	3	744	c.549G>A	c.(547-549)caG>caA	p.Q183Q		NM_001146344.1	NP_001139816.1	O60813	PRA11_HUMAN	PRAME family member 11	183					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)			p.Q183H(1)		NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1)	27						ATGGGGTAAACTGTGTCAGGA	0.498																																						ENST00000535591.1																			1	Substitution - Missense(1)	p.Q183H(1)	lung(1)	NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1)	27						c.(547-549)caG>caA		PRAME family member 11																																				SO:0001819	synonymous_variant	440560							g.chr1:12887308C>T	AL049680	CCDS53268.1	1p36.21	2013-01-17			ENSG00000204513	ENSG00000239810		"-"	14086	protein-coding gene	gene with protein product							Standard	XM_006710645		Approved		uc001auk.2	O60813	OTTHUMG00000001929	ENST00000535591.1:c.549G>A	1.37:g.12887308C>T							p.Q183Q	NM_001146344.1	NP_001139816.1	O60813	PRA11_HUMAN			3	744	-			183						Silent	SNP	ENST00000535591.1	37	c.549G>A	CCDS53268.1																																																																																				0.498	PRAMEF11-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		XM_496341		9	324	0	0	0	1	0	9	324					T	12887308	C	T	12887308	2	4	289	1	0	0	0	0	0	0	0	1	12427	564	20	3		3	PRAMEF11	1	12887308	Silent	SNP	C	TCGA-J9-A8CK-01A-11D-A34U-08		12887308	236363313	1	13912											
CADM3	57863	broad.mit.edu	37	chr1	159162404	159162404	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aattcagctggttacctctaCgccccacgagctcagcatca	10	9	7	15	2	4	0	3	0	1	0	4	1	4	0	3	1	5	4	3	1	3	3			TCGA-J9-A8CK-01A-11D-A34U-08	TCGA-J9-A8CK-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc4c0fab-2cb2-4203-a0ed-c5fef2446f5e	aca8551c-6477-4cd2-a7d0-72b093c56a69	g.chr1:159162404C>T	ENST00000368125.4	+	3	423	c.266C>T	c.(265-267)aCg>aTg	p.T89M	CADM3_ENST00000368124.4_Missense_Mutation_p.T123M	NM_001127173.1	NP_001120645.1	Q8N126	CADM3_HUMAN	cell adhesion molecule 3	89	Ig-like V-type.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|heterophilic cell-cell adhesion (GO:0007157)|homophilic cell adhesion (GO:0007156)|protein localization (GO:0008104)	cell-cell junction (GO:0005911)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)	p.T123M(1)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(20)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55	all_hematologic(112;0.0429)					GTTACCTCTACGCCCCACGAG	0.507																																						ENST00000368125.4																			1	Substitution - Missense(1)	p.T123M(1)	skin(1)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(20)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						c.(265-267)aCg>aTg		cell adhesion molecule 3							143	119	127					1																	159162404		2203	4300	6503	SO:0001583	missense	57863				adherens junction organization|cell junction assembly|heterophilic cell-cell adhesion|homophilic cell adhesion	cell-cell junction|integral to membrane	protein homodimerization activity	g.chr1:159162404C>T	AY046418	CCDS1182.1, CCDS44251.1	1q21.2-q22	2013-01-29	2007-02-07	2007-02-07	ENSG00000162706	ENSG00000162706		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	17601	protein-coding gene	gene with protein product	"nectin-like 1"	609743	"immunoglobulin superfamily, member 4B"	IGSF4B		11536053	Standard	NM_021189		Approved	BIgR, FLJ10698, TSLL1, NECL1, SynCAM3, Necl-1	uc001ftk.2	Q8N126	OTTHUMG00000037177	ENST00000368125.4:c.266C>T	1.37:g.159162404C>T	ENSP00000357107:p.Thr89Met					CADM3_ENST00000368124.4_Missense_Mutation_p.T123M	p.T89M	NM_001127173.1	NP_001120645.1	Q8N126	CADM3_HUMAN			3	423	+	all_hematologic(112;0.0429)		89			Ig-like V-type.		Q8IZQ9|Q9NVJ5|Q9UJP1	Missense_Mutation	SNP	ENST00000368125.4	37	c.266C>T	CCDS44251.1	.	.	.	.	.	.	.	.	.	.	C	13.99	2.402662	0.42613	.	.	ENSG00000162706	ENST00000368124;ENST00000368125;ENST00000416746	D;D;D	0.84660	-1.88;-1.88;-1.88	5.22	5.22	0.72569	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.068114	0.56097	D	0.000036	D	0.87458	0.6182	L	0.61218	1.895	0.28871	N	0.894971	D;D;D	0.89917	1.0;1.0;1.0	P;D;P	0.71656	0.89;0.974;0.905	T	0.83035	-0.0160	10	0.87932	D	0	.	11.9319	0.52851	0.0:0.8253:0.1747:0.0	.	89;89;123	Q8N126-3;Q8N126;Q8N126-2	.;CADM3_HUMAN;.	M	123;89;89	ENSP00000357106:T123M;ENSP00000357107:T89M;ENSP00000387802:T89M	ENSP00000357106:T123M	T	+	2	0	CADM3	157429028	0.921000	0.31238	0.077000	0.20336	0.089000	0.18198	5.400000	0.66320	2.708000	0.92522	0.650000	0.86243	ACG		0.507	CADM3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000090330.1	NM_021189		16	43	0	0	0	1	0	16	43					T	159162404	C	T	159162404	3	4	289	1	0	0	0	0	1	0	0	0	2568	536	19	1	382	1	CADM3	1	159162404	Missense_Mutation	SNP	C	TCGA-J9-A8CK-01A-11D-A34U-08	146275096	159162404	90088217	2	13913											
CHRNA1	1134	broad.mit.edu	37	chr2	175618303	175618303	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaggggatgatgacgttgaCgatgaagtagaggggcaggc	11	6	19	5	2	0	5	0	4	0	1	0	7	0	6	0	5	0	4	0	5	2	2			TCGA-J9-A8CK-01A-11D-A34U-08	TCGA-J9-A8CK-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc4c0fab-2cb2-4203-a0ed-c5fef2446f5e	aca8551c-6477-4cd2-a7d0-72b093c56a69	g.chr2:175618303C>T	ENST00000261007.5	-	7	847	c.781G>A	c.(781-783)Gtc>Atc	p.V261I	AC018890.6_ENST00000442996.1_RNA|CHRNA1_ENST00000348749.5_Missense_Mutation_p.V236I|CHRNA1_ENST00000409323.1_Missense_Mutation_p.V236I|CHRNA1_ENST00000409542.1_Missense_Mutation_p.V154I|CHRNA1_ENST00000409219.1_Missense_Mutation_p.V236I	NM_001039523.2	NP_001034612.1	P02708	ACHA_HUMAN	cholinergic receptor, nicotinic, alpha 1 (muscle)	261					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|ion transmembrane transport (GO:0034220)|muscle cell cellular homeostasis (GO:0046716)|musculoskeletal movement (GO:0050881)|neuromuscular junction development (GO:0007528)|neuromuscular process (GO:0050905)|neuromuscular synaptic transmission (GO:0007274)|neuron cellular homeostasis (GO:0070050)|neuronal action potential (GO:0019228)|regulation of membrane potential (GO:0042391)|signal transduction (GO:0007165)|skeletal muscle contraction (GO:0003009)|skeletal muscle tissue growth (GO:0048630)|synaptic transmission (GO:0007268)|transport (GO:0006810)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|cell surface (GO:0009986)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|ion channel activity (GO:0005216)			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(15)|ovary(3)|prostate(3)|skin(4)	37					Galantamine(DB00674)	ATGACGTTGACGATGAAGTAG	0.582																																						ENST00000348749.5																			0				breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(15)|ovary(3)|prostate(3)|skin(4)	37						c.(706-708)Gtc>Atc		cholinergic receptor, nicotinic, alpha 1 (muscle)							234	209	218					2																	175618303		2203	4300	6503	SO:0001583	missense	1134				muscle cell homeostasis|neuromuscular junction development|neuromuscular process|neuromuscular synaptic transmission|neuron homeostasis|regulation of action potential in neuron|skeletal muscle contraction|skeletal muscle tissue growth	cell junction|cell surface|neuromuscular junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity	g.chr2:175618303C>T	Y00762	CCDS2261.1, CCDS33331.1	2q31.1	2012-02-11	2006-02-01		ENSG00000138435	ENSG00000138435		"Cholinergic receptors", "Ligand-gated ion channels / Acetylcholine receptors, nicotinic"	1955	protein-coding gene	gene with protein product	"acetylcholine receptor, nicotinic, alpha 1 (muscle)"	100690	"cholinergic receptor, nicotinic, alpha polypeptide 1 (muscle)"	CHRNA			Standard	NM_001039523		Approved		uc002uje.2	P02708	OTTHUMG00000132357	ENST00000261007.5:c.781G>A	2.37:g.175618303C>T	ENSP00000261007:p.Val261Ile					AC018890.6_ENST00000442996.1_RNA|CHRNA1_ENST00000409323.1_Missense_Mutation_p.V236I|CHRNA1_ENST00000261007.5_Missense_Mutation_p.V261I|CHRNA1_ENST00000409219.1_Missense_Mutation_p.V236I|CHRNA1_ENST00000409542.1_Missense_Mutation_p.V154I	p.V236I	NM_000079.3	NP_000070.1	P02708	ACHA_HUMAN			6	783	-			261					B4DRV6|D3DPE8	Missense_Mutation	SNP	ENST00000261007.5	37	c.706G>A	CCDS33331.1	.	.	.	.	.	.	.	.	.	.	C	7.911	0.736536	0.15574	.	.	ENSG00000138435	ENST00000348749;ENST00000261007;ENST00000409542;ENST00000409219;ENST00000409323	T;T;T;D;T	0.83755	-1.4;-1.4;-1.4;-1.76;-0.36	5.17	3.38	0.38709	Neurotransmitter-gated ion-channel transmembrane domain (1);	0.105910	0.64402	N	0.000005	T	0.67970	0.2950	N	0.20328	0.56	0.58432	D	0.999999	B;B;B	0.27192	0.005;0.056;0.171	B;B;B	0.21546	0.011;0.027;0.035	T	0.58584	-0.7611	10	0.11182	T	0.66	.	12.4489	0.55667	0.0:0.8761:0.0:0.1239	.	236;236;261	G5E9G9;Q53SH4;P02708	.;.;ACHA_HUMAN	I	236;261;154;236;236	ENSP00000261008:V236I;ENSP00000261007:V261I;ENSP00000387026:V154I;ENSP00000386611:V236I;ENSP00000386684:V236I	ENSP00000261007:V261I	V	-	1	0	CHRNA1	175326549	0.998000	0.40836	0.999000	0.59377	0.982000	0.71751	3.298000	0.51818	0.677000	0.31305	0.650000	0.86243	GTC		0.582	CHRNA1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000334116.1			16	69	0	0	0	1	0	16	69					T	175618303	C	T	175618303	3	4	289	1	0	0	0	0	1	0	0	0	3381	536	19	1	683	1	CHRNA1	2	175618303	Missense_Mutation	SNP	C	TCGA-J9-A8CK-01A-11D-A34U-08		175618303	67581070	3	13914											
NEK4	6787	broad.mit.edu	37	chr3	52786023	52786023	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcttttccccagtgacaatGtcagaggaccacatgggaat	11	11	9	10	0	2	2	1	1	1	1	3	4	3	4	3	2	0	0	3	2	2	3	rs200247224		TCGA-J9-A8CK-01A-11D-A34U-08	TCGA-J9-A8CK-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc4c0fab-2cb2-4203-a0ed-c5fef2446f5e	aca8551c-6477-4cd2-a7d0-72b093c56a69	g.chr3:52786023G>C	ENST00000233027.5	-	7	1495	c.1293C>G	c.(1291-1293)gaC>gaG	p.D431E	NEK4_ENST00000535191.1_Missense_Mutation_p.D342E|NEK4_ENST00000383721.4_Missense_Mutation_p.D431E	NM_001193533.1|NM_003157.4	NP_001180462.1|NP_003148.2	P51957	NEK4_HUMAN	NIMA-related kinase 4	431					mitotic nuclear division (GO:0007067)|protein phosphorylation (GO:0006468)	nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(10)	26				BRCA - Breast invasive adenocarcinoma(193;7.44e-05)|Kidney(197;0.000711)|KIRC - Kidney renal clear cell carcinoma(197;0.00086)|OV - Ovarian serous cystadenocarcinoma(275;0.0513)		CAGTGACAATGTCAGAGGACC	0.468																																						ENST00000233027.5																			0				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(10)	26						c.(1291-1293)gaC>gaG		NIMA-related kinase 4							207	203	204					3																	52786023		2203	4300	6503	SO:0001583	missense	6787				cell division|mitosis	nucleus	ATP binding|metal ion binding|protein serine/threonine kinase activity	g.chr3:52786023G>C	L20321	CCDS2863.1, CCDS54593.1	3p21.1	2012-11-15	2012-11-15	2002-05-10	ENSG00000114904	ENSG00000114904	2.7.11.1		11399	protein-coding gene	gene with protein product	"serine/threonine protein kinase-2"	601959	"serine/threonine kinase 2", "NIMA (never in mitosis gene a)-related kinase 4"	STK2		8208544	Standard	NM_001193533		Approved	NRK2, pp12301	uc003dfq.4	P51957	OTTHUMG00000158836	ENST00000233027.5:c.1293C>G	3.37:g.52786023G>C	ENSP00000233027:p.Asp431Glu					NEK4_ENST00000383721.4_Missense_Mutation_p.D431E|NEK4_ENST00000535191.1_Missense_Mutation_p.D342E	p.D431E	NM_001193533.1|NM_003157.4	NP_001180462.1|NP_003148.2	P51957	NEK4_HUMAN		BRCA - Breast invasive adenocarcinoma(193;7.44e-05)|Kidney(197;0.000711)|KIRC - Kidney renal clear cell carcinoma(197;0.00086)|OV - Ovarian serous cystadenocarcinoma(275;0.0513)	7	1495	-			431					A5YM70|B2R633|B7Z200|Q6P576	Missense_Mutation	SNP	ENST00000233027.5	37	c.1293C>G	CCDS2863.1	.	.	.	.	.	.	.	.	.	.	G	2.064	-0.414725	0.04766	.	.	ENSG00000114904	ENST00000233027;ENST00000535191;ENST00000383721;ENST00000461689	T;T;T;T	0.72051	-0.54;-0.62;-0.55;-0.62	4.7	-7.82	0.01205	.	1.110220	0.06820	N	0.792157	T	0.47746	0.1462	L	0.44542	1.39	0.09310	N	1	P;P;P	0.40000	0.698;0.469;0.488	B;B;B	0.30572	0.108;0.117;0.05	T	0.40942	-0.9536	10	0.12103	T	0.63	.	7.0549	0.25093	0.6714:0.2063:0.1223:0.0	.	342;431;431	B7Z200;P51957-2;P51957	.;.;NEK4_HUMAN	E	431;342;431;342	ENSP00000233027:D431E;ENSP00000437703:D342E;ENSP00000373227:D431E;ENSP00000419666:D342E	ENSP00000233027:D431E	D	-	3	2	NEK4	52761063	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-0.029000	0.12329	-1.025000	0.03334	-0.282000	0.10007	GAC		0.468	NEK4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000352386.2	NM_003157		63	149	0	0	0	1	0	63	149					C	52786023	G	C	52786023	3	2	289	1	0	0	0	0	1	0	0	0	10326	1368	48	5	1272	5	NEK4	3	52786023	Missense_Mutation	SNP	G	TCGA-J9-A8CK-01A-11D-A34U-08		52786023	145236407	4	13915											
EIF4E3	317649	broad.mit.edu	37	chr3	71745611	71745611	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggatcagtaggaacctacCgtgctgtccttggggacttt	8	11	13	9	1	1	0	1	0	0	0	2	4	2	3	3	4	3	2	3	4	3	4	rs530682446	byFrequency	TCGA-J9-A8CK-01A-11D-A34U-08	TCGA-J9-A8CK-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc4c0fab-2cb2-4203-a0ed-c5fef2446f5e	aca8551c-6477-4cd2-a7d0-72b093c56a69	g.chr3:71745611C>T	ENST00000425534.3	-	4	412	c.405G>A	c.(403-405)acG>acA	p.T135T	EIF4E3_ENST00000468147.1_Intron|EIF4E3_ENST00000389826.3_Splice_Site_p.T29T|EIF4E3_ENST00000295612.3_Splice_Site_p.T29T|EIF4E3_ENST00000421769.2_Splice_Site_p.T29T|EIF4E3_ENST00000448225.1_Splice_Site_p.T29T	NM_001134651.1	NP_001128123.1	Q8N5X7	IF4E3_HUMAN	eukaryotic translation initiation factor 4E family member 3	135					cytokine-mediated signaling pathway (GO:0019221)|regulation of translation (GO:0006417)	cytosol (GO:0005829)|mRNA cap binding complex (GO:0005845)	translation initiation factor activity (GO:0003743)			large_intestine(1)|lung(3)	4		Prostate(10;0.0166)		BRCA - Breast invasive adenocarcinoma(55;2.56e-05)|Epithelial(33;2.9e-05)|Lung(16;9.28e-05)|LUSC - Lung squamous cell carcinoma(21;0.00227)		AGGAACCTACCGTGCTGTCCT	0.493													C|||	2	0.000399361	0.0015	0	5008	,	,		14145	0		0	False		,,,				2504	0					ENST00000448225.1																			0				large_intestine(1)|lung(3)	4						c.e5+1		eukaryotic translation initiation factor 4E family member 3							183	140	154					3																	71745611		2203	4300	6503	SO:0001630	splice_region_variant	317649				regulation of translation	cytoplasm|mRNA cap binding complex	translation initiation factor activity	g.chr3:71745611C>T	AK126999	CCDS33786.1, CCDS46867.1	3p14	2008-02-05	2006-11-13		ENSG00000163412	ENSG00000163412			31837	protein-coding gene	gene with protein product		609896	"eukaryotic translation initiation factor 4E member 3"			15153109	Standard	NM_173359		Approved	MGC39820	uc003dov.4	Q8N5X7	OTTHUMG00000158797	ENST00000425534.3:c.405+1G>A	3.37:g.71745611C>T						EIF4E3_ENST00000295612.3_Splice_Site_p.T29_splice|EIF4E3_ENST00000425534.2_Splice_Site_p.T135_splice|EIF4E3_ENST00000468147.1_Intron|EIF4E3_ENST00000389826.3_Splice_Site_p.T29_splice|EIF4E3_ENST00000421769.2_Splice_Site_p.T29_splice	p.T29_splice	NM_001134649.1	NP_001128121.1	Q8N5X7	IF4E3_HUMAN		BRCA - Breast invasive adenocarcinoma(55;2.56e-05)|Epithelial(33;2.9e-05)|Lung(16;9.28e-05)|LUSC - Lung squamous cell carcinoma(21;0.00227)	5	543	-		Prostate(10;0.0166)	135					B2R963|Q6NUT1	Splice_Site	SNP	ENST00000425534.3	37	c.87_splice	CCDS46867.1																																																																																				0.493	EIF4E3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352294.2	NM_173359	Silent	14	47	0	0	0	1	0	14	47					T	71745611	C	T	71745611	5	4	289	1	0	0	0	0	0	0	1	0	5031	666	23	2	285	2	EIF4E3	3	71745611	Splice_Site	SNP	C	TCGA-J9-A8CK-01A-11D-A34U-08	18959588	71745611	126276819	5	13916											
DZIP1L	199221	broad.mit.edu	37	chr3	137802957	137802957	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaggaagggcagacctaccaTctcctcctgggaggcaatga	12	6	12	11	0	1	2	0	1	1	1	3	4	2	4	4	4	1	2	4	4	4	1			TCGA-J9-A8CK-01A-11D-A34U-08	TCGA-J9-A8CK-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc4c0fab-2cb2-4203-a0ed-c5fef2446f5e	aca8551c-6477-4cd2-a7d0-72b093c56a69	g.chr3:137802957T>A	ENST00000327532.2	-	8	1563	c.1201A>T	c.(1201-1203)Atg>Ttg	p.M401L	DZIP1L_ENST00000488595.1_Intron|DZIP1L_ENST00000469243.1_Missense_Mutation_p.M401L	NM_173543.2	NP_775814.2	Q8IYY4	DZI1L_HUMAN	DAZ interacting zinc finger protein 1-like	401					cilium assembly (GO:0042384)	ciliary basal body (GO:0036064)	metal ion binding (GO:0046872)			breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|pancreas(2)|prostate(1)|skin(1)	35						AGACCTACCATCTCCTCCTGG	0.567																																						ENST00000327532.2																			0				breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|pancreas(2)|prostate(1)|skin(1)	35						c.(1201-1203)Atg>Ttg		DAZ interacting zinc finger protein 1-like							141	135	137					3																	137802957		2203	4300	6503	SO:0001583	missense	199221					intracellular	zinc ion binding	g.chr3:137802957T>A	AK057406	CCDS3096.1, CCDS54645.1	3q22.3	2013-05-22	2013-05-22		ENSG00000158163	ENSG00000158163			26551	protein-coding gene	gene with protein product			"DAZ interacting protein 1-like"			12477932	Standard	NM_173543		Approved	FLJ32844, DZIP2	uc003erq.3	Q8IYY4	OTTHUMG00000159819	ENST00000327532.2:c.1201A>T	3.37:g.137802957T>A	ENSP00000332148:p.Met401Leu					DZIP1L_ENST00000488595.1_Intron|DZIP1L_ENST00000469243.1_Missense_Mutation_p.M401L	p.M401L	NM_173543.2	NP_775814.2	Q8IYY4	DZI1L_HUMAN			8	1563	-			401					C9JUG5|Q96M38	Missense_Mutation	SNP	ENST00000327532.2	37	c.1201A>T	CCDS3096.1	.	.	.	.	.	.	.	.	.	.	T	13.19	2.162236	0.38217	.	.	ENSG00000158163	ENST00000327532;ENST00000469243;ENST00000536706	T;T	0.43294	0.95;0.95	5.7	3.31	0.37934	.	0.947382	0.08791	N	0.893173	T	0.36690	0.0976	L	0.51422	1.61	0.09310	N	0.999994	B;B	0.16396	0.017;0.01	B;B	0.16289	0.015;0.007	T	0.30031	-0.9992	10	0.48119	T	0.1	-0.9133	6.2607	0.20899	0.0:0.0824:0.1626:0.7549	.	401;401	Q8IYY4-2;Q8IYY4	.;DZI1L_HUMAN	L	401	ENSP00000332148:M401L;ENSP00000419486:M401L	ENSP00000332148:M401L	M	-	1	0	DZIP1L	139285647	0.955000	0.32602	0.457000	0.27056	0.822000	0.46500	1.911000	0.39937	0.961000	0.38030	0.528000	0.53228	ATG		0.567	DZIP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357548.1	NM_173543		20	65	0	0	0	1	0	20	65					A	137802957	T	A	137802957	3	1	289	1	0	0	0	0	1	0	0	0	4864	1435	50	5	1147	5	DZIP1L	3	137802957	Missense_Mutation	SNP	T	TCGA-J9-A8CK-01A-11D-A34U-08	66057346	137802957	60219473	6	13917											
LIMCH1	22998	broad.mit.edu	37	chr4	41682030	41682030	+	Frame_Shift_Del	DEL	A	A	-																															aattccataacaggagagatAccagaaggagcaggacaagc																										TCGA-J9-A8CK-01A-11D-A34U-08	TCGA-J9-A8CK-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc4c0fab-2cb2-4203-a0ed-c5fef2446f5e	aca8551c-6477-4cd2-a7d0-72b093c56a69	g.chr4:41682030delA	ENST00000313860.7	+	19	2429	c.2375delA	c.(2374-2376)tacfs	p.Y792fs	LIMCH1_ENST00000381753.4_Frame_Shift_Del_p.Y625fs|LIMCH1_ENST00000509277.1_Frame_Shift_Del_p.Y625fs|LIMCH1_ENST00000508501.1_Frame_Shift_Del_p.Y791fs|LIMCH1_ENST00000512820.1_Frame_Shift_Del_p.Y804fs|LIMCH1_ENST00000396595.3_Frame_Shift_Del_p.Y637fs|LIMCH1_ENST00000514096.1_Frame_Shift_Del_p.Y632fs|LIMCH1_ENST00000512946.1_Frame_Shift_Del_p.Y792fs|LIMCH1_ENST00000513024.1_Frame_Shift_Del_p.Y645fs|LIMCH1_ENST00000503057.1_Frame_Shift_Del_p.Y1176fs|LIMCH1_ENST00000511496.1_Frame_Shift_Del_p.Y632fs|LIMCH1_ENST00000512632.1_Frame_Shift_Del_p.Y715fs	NM_014988.2	NP_055803.2	Q9UPQ0	LIMC1_HUMAN	LIM and calponin homology domains 1	792	Glu-rich.				actomyosin structure organization (GO:0031032)		zinc ion binding (GO:0008270)			central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(5)	41						CAGGAGAGATACCAGAAGGAG	0.448																																						ENST00000313860.7																			0				central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(5)	41						c.(2374-2376)tcfs		LIM and calponin homology domains 1							105	87	93					4																	41682030		2202	4300	6502	SO:0001589	frameshift_variant	22998				actomyosin structure organization		actin binding|zinc ion binding	g.chr4:41682030delA	AB029025	CCDS33977.1, CCDS47047.1, CCDS54763.1, CCDS54764.1, CCDS54765.1, CCDS75119.1, CCDS75121.1	4p13	2007-06-14		2008-01-09	ENSG00000064042	ENSG00000064042			29191	protein-coding gene	gene with protein product						10470851	Standard	XM_005248057		Approved	DKFZP686A01247, LIMCH1A, LMO7B	uc003gvz.4	Q9UPQ0	OTTHUMG00000160575	ENST00000313860.7:c.2375delA	4.37:g.41682030delA	ENSP00000316891:p.Tyr792fs					LIMCH1_ENST00000509277.1_Frame_Shift_Del_p.Y625fs|LIMCH1_ENST00000512946.1_Frame_Shift_Del_p.Y792fs|LIMCH1_ENST00000396595.3_Frame_Shift_Del_p.Y637fs|LIMCH1_ENST00000512820.1_Frame_Shift_Del_p.Y804fs|LIMCH1_ENST00000381753.4_Frame_Shift_Del_p.Y625fs|LIMCH1_ENST00000514096.1_Frame_Shift_Del_p.Y632fs|LIMCH1_ENST00000513024.1_Frame_Shift_Del_p.Y645fs|LIMCH1_ENST00000503057.1_Frame_Shift_Del_p.Y1176fs|LIMCH1_ENST00000512632.1_Frame_Shift_Del_p.Y715fs|LIMCH1_ENST00000511496.1_Frame_Shift_Del_p.Y632fs|LIMCH1_ENST00000508501.1_Frame_Shift_Del_p.Y791fs	p.Y792fs	NM_014988.2	NP_055803.2	Q9UPQ0	LIMC1_HUMAN			19	2429	+			792			Glu-rich.		A8MXC3|E9PHM7|Q503B5|Q5CZB1|Q5CZB6|Q5H9S8|Q68E07|Q6PJ44|Q7Z3G5|Q8N3S9|Q8N6M2	Frame_Shift_Del	DEL	ENST00000313860.7	37	c.2375delA	CCDS33977.1																																																																																				0.448	LIMCH1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000361249.2	NM_014988		2	4						2	4	---	---	---	---	-	41682030	A	-	41682030	7	5	289	1	0	1	0	1	0	0	0	0	8797	391	14	0	2477	0	LIMCH1	4	41682030	Frame_Shift_Del	DEL	A	TCGA-J9-A8CK-01A-11D-A34U-08		41682030	149472246	7	13918											
SMARCAD1	56916	broad.mit.edu	37	chr4	95204449	95204449	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agatgccatagagtaggccaGactaagtaagtgtttttagt	13	12	11	5	0	0	3	0	0	0	3	0	3	0	3	2	1	1	3	2	1	5	7			TCGA-J9-A8CK-01A-11D-A34U-08	TCGA-J9-A8CK-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc4c0fab-2cb2-4203-a0ed-c5fef2446f5e	aca8551c-6477-4cd2-a7d0-72b093c56a69	g.chr4:95204449G>T	ENST00000354268.4	+	22	2977	c.2904G>T	c.(2902-2904)caG>caT	p.Q968H	SMARCAD1_ENST00000457823.2_Missense_Mutation_p.Q970H|SMARCAD1_ENST00000509418.1_Missense_Mutation_p.Q538H			Q9H4L7	SMRCD_HUMAN	SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1	968	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				ATP-dependent chromatin remodeling (GO:0043044)|chromatin modification (GO:0016568)|chromatin remodeling (GO:0006338)|chromosome separation (GO:0051304)|DNA double-strand break processing (GO:0000729)|histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|nucleotide metabolic process (GO:0009117)|positive regulation of transcription, DNA-templated (GO:0045893)|protein homooligomerization (GO:0051260)|regulation of DNA recombination (GO:0000018)	heterochromatin (GO:0000792)|nuclear matrix (GO:0016363)|nuclear replication fork (GO:0043596)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|liver(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	44				OV - Ovarian serous cystadenocarcinoma(123;4.33e-08)		GAGTAGGCCAGACTAAGTAAG	0.333																																						ENST00000354268.4																			0				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|liver(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						c.(2902-2904)caG>caT		SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1							101	102	102					4																	95204449		2203	4299	6502	SO:0001583	missense	56916				chromatin modification|nucleotide metabolic process|positive regulation of transcription, DNA-dependent|protein homooligomerization|regulation of DNA recombination	nuclear matrix	ATP binding|DNA binding|helicase activity	g.chr4:95204449G>T	AB032948	CCDS3639.1, CCDS47101.1, CCDS58914.1	4q22-q23	2008-02-05			ENSG00000163104	ENSG00000163104			18398	protein-coding gene	gene with protein product		612761				11031099	Standard	NM_001128430		Approved	ETL1, DKFZP762K2015, KIAA1122, DKFZp762K2015	uc003htb.4	Q9H4L7	OTTHUMG00000130971	ENST00000354268.4:c.2904G>T	4.37:g.95204449G>T	ENSP00000346217:p.Gln968His					SMARCAD1_ENST00000457823.2_Missense_Mutation_p.Q970H|SMARCAD1_ENST00000509418.1_Missense_Mutation_p.Q538H	p.Q968H			Q9H4L7	SMRCD_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;4.33e-08)	22	2977	+			968			Helicase C-terminal.		B7Z799|Q05D56|Q96SX1|Q9H017|Q9H860|Q9NPU9|Q9ULU7	Missense_Mutation	SNP	ENST00000354268.4	37	c.2904G>T	CCDS3639.1	.	.	.	.	.	.	.	.	.	.	G	16.24	3.068369	0.55539	.	.	ENSG00000163104	ENST00000359052;ENST00000457823;ENST00000354268;ENST00000509418	D;D;D;D	0.83075	-1.68;-1.68;-1.68;-1.68	5.48	1.59	0.23543	Helicase, C-terminal (1);	0.000000	0.47455	D	0.000240	D	0.94125	0.8116	H	0.99582	4.64	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.92010	0.5617	10	0.87932	D	0	-10.7502	9.0736	0.36508	0.3984:0.0:0.6016:0.0	.	968;970	Q9H4L7;Q9H4L7-2	SMRCD_HUMAN;.	H	970;970;968;538	ENSP00000351947:Q970H;ENSP00000415576:Q970H;ENSP00000346217:Q968H;ENSP00000423286:Q538H	ENSP00000346217:Q968H	Q	+	3	2	SMARCAD1	95423472	1.000000	0.71417	0.998000	0.56505	0.818000	0.46254	3.452000	0.52971	-0.021000	0.14009	-0.229000	0.12294	CAG		0.333	SMARCAD1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253583.1	NM_020159		3	36	1	0	1.23904e-05	1	1.32164e-05	3	36					T	95204449	G	T	95204449	3	4	289	1	0	0	0	0	1	0	0	0	14772	933	33	5	2992	5	SMARCAD1	4	95204449	Missense_Mutation	SNP	G	TCGA-J9-A8CK-01A-11D-A34U-08	53522419	95204449	95949827	8	13919											
C6orf138	442213	broad.mit.edu	37	chr6	47846814	47846814	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tggagaagatgatatcatttCgaaaatgctggaattctggc	13	12	11	5	1	2	3	1	1	1	2	3	6	2	4	0	3	1	1	0	3	5	3	rs534112009		TCGA-J9-A8CK-01A-11D-A34U-08	TCGA-J9-A8CK-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc4c0fab-2cb2-4203-a0ed-c5fef2446f5e	aca8551c-6477-4cd2-a7d0-72b093c56a69	g.chr6:47846814C>T	ENST00000339488.4	-	3	1799	c.1766G>A	c.(1765-1767)cGa>cAa	p.R589Q		NM_001013732.3	NP_001013754.3	Q6ZW05	PTHD4_HUMAN	patched domain containing 4	589						integral component of membrane (GO:0016021)	hedgehog receptor activity (GO:0008158)										GATATCATTTCGAAAATGCTG	0.423													C|||	1	0.000199681	0	0	5008	,	,		22586	0		0.001	False		,,,				2504	0					ENST00000339488.4																			0											c.(1765-1767)cGa>cAa		patched domain containing 4							57	58	58					6																	47846814		2203	4300	6503	SO:0001583	missense	442213					integral to membrane	hedgehog receptor activity	g.chr6:47846814C>T		CCDS34473.2	6p12.3	2012-02-06	2012-02-06	2012-02-06	ENSG00000244694	ENSG00000244694			21345	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 138"	C6orf138			Standard	NM_001013732		Approved	dJ402H5.2, FLJ41841	uc011dwm.2	Q6ZW05	OTTHUMG00000150404	ENST00000339488.4:c.1766G>A	6.37:g.47846814C>T	ENSP00000341914:p.Arg589Gln						p.R589Q	NM_001013732.3	NP_001013754.3	Q6ZW05	CF138_HUMAN			3	1799	-			589					B0QZ29|B4DRK3|Q5T884	Missense_Mutation	SNP	ENST00000339488.4	37	c.1766G>A	CCDS34473.2	.	.	.	.	.	.	.	.	.	.	C	2.620	-0.288858	0.05605	.	.	ENSG00000244694	ENST00000339488	D	0.84873	-1.91	5.48	5.48	0.80851	.	0.411520	0.23712	N	0.045315	T	0.57051	0.2027	N	0.19112	0.55	0.80722	D	1	B	0.17038	0.02	B	0.20384	0.029	T	0.55179	-0.8181	10	0.13108	T	0.6	.	7.1428	0.25566	0.0:0.793:0.0:0.207	.	589	Q6ZW05	CF138_HUMAN	Q	589	ENSP00000341914:R589Q	ENSP00000341914:R589Q	R	-	2	0	C6orf138	47954773	0.995000	0.38212	0.997000	0.53966	0.995000	0.86356	1.994000	0.40757	2.592000	0.87571	0.650000	0.86243	CGA		0.423	PTCHD4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317987.2	NM_001013732		9	29	0	0	0	1	0	9	29					T	47846814	C	T	47846814	3	4	289	1	0	0	0	0	1	0	0	0	2332	884	31	2	778	2	C6orf138	6	47846814	Missense_Mutation	SNP	C	TCGA-J9-A8CK-01A-11D-A34U-08		47846814	123268253	9	13920											
EPB41L2	2037	broad.mit.edu	37	chr6	131191226	131191226	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtctttcccaacctctgccCgcttcttctcctccactata	5	14	3	19	2	4	0	0	0	4	0	7	0	6	0	5	0	2	1	5	0	3	5			TCGA-J9-A8CK-01A-11D-A34U-08	TCGA-J9-A8CK-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc4c0fab-2cb2-4203-a0ed-c5fef2446f5e	aca8551c-6477-4cd2-a7d0-72b093c56a69	g.chr6:131191226C>T	ENST00000337057.3	-	15	2265	c.2084G>A	c.(2083-2085)cGg>cAg	p.R695Q	EPB41L2_ENST00000445890.2_Intron|EPB41L2_ENST00000525271.1_Intron|EPB41L2_ENST00000527411.1_Missense_Mutation_p.R625Q|EPB41L2_ENST00000529208.1_Missense_Mutation_p.R625Q|EPB41L2_ENST00000392427.3_Intron|EPB41L2_ENST00000530757.1_Intron|EPB41L2_ENST00000524581.1_Missense_Mutation_p.R73Q|EPB41L2_ENST00000368128.2_Missense_Mutation_p.R695Q|EPB41L2_ENST00000525193.1_Intron|EPB41L2_ENST00000530481.1_Missense_Mutation_p.R625Q|EPB41L2_ENST00000531410.1_Intron|EPB41L2_ENST00000527659.1_Missense_Mutation_p.R625Q|EPB41L2_ENST00000528282.1_Intron	NM_001431.3	NP_001422.1	O43491	E41L2_HUMAN	erythrocyte membrane protein band 4.1-like 2	695					cortical actin cytoskeleton organization (GO:0030866)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|spectrin (GO:0008091)	structural molecule activity (GO:0005198)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(23)|prostate(1)|skin(2)	44	Breast(56;0.0639)			OV - Ovarian serous cystadenocarcinoma(155;0.0271)|GBM - Glioblastoma multiforme(226;0.0355)		AACCTCTGCCCGCTTCTTCTC	0.408																																						ENST00000337057.3																			0				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(23)|prostate(1)|skin(2)	44						c.(2083-2085)cGg>cAg		erythrocyte membrane protein band 4.1-like 2							45	48	47					6																	131191226		2203	4300	6503	SO:0001583	missense	2037				cortical actin cytoskeleton organization	extrinsic to membrane|plasma membrane|spectrin	actin binding|structural molecule activity	g.chr6:131191226C>T	AF027299	CCDS5141.1, CCDS47474.1, CCDS56450.1, CCDS59037.1	6q23	2008-08-29			ENSG00000079819	ENSG00000079819			3379	protein-coding gene	gene with protein product		603237				9598318, 9828140	Standard	NM_001431		Approved	4.1-G	uc003qch.2	O43491	OTTHUMG00000015560	ENST00000337057.3:c.2084G>A	6.37:g.131191226C>T	ENSP00000338481:p.Arg695Gln					EPB41L2_ENST00000527411.1_Missense_Mutation_p.R625Q|EPB41L2_ENST00000530481.1_Missense_Mutation_p.R625Q|EPB41L2_ENST00000527659.1_Missense_Mutation_p.R625Q|EPB41L2_ENST00000530757.1_Intron|EPB41L2_ENST00000525271.1_Intron|EPB41L2_ENST00000445890.2_Intron|EPB41L2_ENST00000525193.1_Intron|EPB41L2_ENST00000392427.3_Intron|EPB41L2_ENST00000524581.1_Missense_Mutation_p.R73Q|EPB41L2_ENST00000529208.1_Missense_Mutation_p.R625Q|EPB41L2_ENST00000531410.1_Intron|EPB41L2_ENST00000368128.2_Missense_Mutation_p.R695Q|EPB41L2_ENST00000528282.1_Intron	p.R695Q	NM_001431.3	NP_001422.1	O43491	E41L2_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.0271)|GBM - Glioblastoma multiforme(226;0.0355)	15	2265	-	Breast(56;0.0639)		695					B4DHI8|E9PPD9|Q5T4F0|Q68DV2	Missense_Mutation	SNP	ENST00000337057.3	37	c.2084G>A	CCDS5141.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	3.551|3.551	-0.091691|-0.091691	0.07053|0.07053	.|.	.|.	ENSG00000079819|ENSG00000079819	ENST00000425439|ENST00000530481;ENST00000337057;ENST00000257986;ENST00000368128;ENST00000527411;ENST00000524581;ENST00000527659;ENST00000529208;ENST00000527423;ENST00000525198	.|T;T;T;T;T;T;T	.|0.81163	.|-1.39;-1.46;-1.46;-1.37;-0.93;-1.27;-1.37	5.57|5.57	0.847|0.847	0.18961|0.18961	.|.	.|0.689428	.|0.15223	.|N	.|0.273840	T|T	0.20495|0.20495	0.0493|0.0493	N|N	0.00801|0.00801	-1.175|-1.175	0.09310|0.09310	N|N	0.999998|0.999998	.|B;B;B;B;B	.|0.14012	.|0.006;0.009;0.001;0.004;0.002	.|B;B;B;B;B	.|0.06405	.|0.002;0.001;0.001;0.002;0.001	T|T	0.46148|0.46148	-0.9212|-0.9212	6|10	0.11182|0.02654	T|T	0.66|1	.|.	9.2065|9.2065	0.37293|0.37293	0.0:0.192:0.0:0.808|0.0:0.192:0.0:0.808	.|.	.|625;92;625;695;73	.|E9PHY5;E9PCC2;E9PPD9;O43491;Q6R5J7	.|.;.;.;E41L2_HUMAN;.	R|Q	625|625;695;92;695;625;73;625;625;94;147	.|ENSP00000434576:R625Q;ENSP00000338481:R695Q;ENSP00000357110:R695Q;ENSP00000436348:R625Q;ENSP00000437207:R73Q;ENSP00000431647:R625Q;ENSP00000436641:R625Q	ENSP00000397480:G625R|ENSP00000257986:R92Q	G|R	-|-	1|2	0|0	EPB41L2|EPB41L2	131232919|131232919	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.998000|0.998000	0.95712|0.95712	0.660000|0.660000	0.25009|0.25009	-0.023000|-0.023000	0.13963|0.13963	0.555000|0.555000	0.69702|0.69702	GGG|CGG		0.408	EPB41L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042204.3			8	41	0	0	0	1	0	8	41					T	131191226	C	T	131191226	3	4	289	1	0	0	0	0	1	0	0	0	5153	652	23	2	953	2	EPB41L2	6	131191226	Missense_Mutation	SNP	C	TCGA-J9-A8CK-01A-11D-A34U-08	83344412	131191226	39923841	10	13921											
ESR1	2099	broad.mit.edu	37	chr6	152420002	152420002	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggggcatccgtggaggagacGgaccaaagccacttggccac	10	4	15	12	2	0	1	0	0	0	1	1	4	1	3	4	6	1	1	4	6	1	1	rs147982903		TCGA-J9-A8CK-01A-11D-A34U-08	TCGA-J9-A8CK-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc4c0fab-2cb2-4203-a0ed-c5fef2446f5e	aca8551c-6477-4cd2-a7d0-72b093c56a69	g.chr6:152420002G>A	ENST00000206249.3	+	8	2051	c.1689G>A	c.(1687-1689)acG>acA	p.T563T	ESR1_ENST00000443427.1_Silent_p.T563T|ESR1_ENST00000338799.5_Silent_p.T563T|ESR1_ENST00000406599.1_Silent_p.T302T|ESR1_ENST00000440973.1_Silent_p.T563T|ESR1_ENST00000427531.2_Intron|ESR1_ENST00000456483.2_Silent_p.T451T	NM_000125.3	NP_000116.2	P03372	ESR1_HUMAN	estrogen receptor 1	563	Interaction with AKAP13.|Self-association.|Transactivation AF-2.				androgen metabolic process (GO:0008209)|antral ovarian follicle growth (GO:0001547)|cellular response to estradiol stimulus (GO:0071392)|chromatin remodeling (GO:0006338)|epithelial cell development (GO:0002064)|epithelial cell proliferation involved in mammary gland duct elongation (GO:0060750)|gene expression (GO:0010467)|intracellular estrogen receptor signaling pathway (GO:0030520)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|male gonad development (GO:0008584)|mammary gland alveolus development (GO:0060749)|mammary gland branching involved in pregnancy (GO:0060745)|negative regulation of gene expression (GO:0010629)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of retinoic acid receptor signaling pathway (GO:0048386)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis (GO:0060527)|prostate epithelial cord elongation (GO:0060523)|regulation of apoptotic process (GO:0042981)|regulation of branching involved in prostate gland morphogenesis (GO:0060687)|regulation of transcription, DNA-templated (GO:0006355)|response to estradiol (GO:0032355)|response to estrogen (GO:0043627)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|uterus development (GO:0060065)|vagina development (GO:0060068)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|transcriptionally active chromatin (GO:0035327)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|core promoter sequence-specific DNA binding (GO:0001046)|enzyme binding (GO:0019899)|estrogen receptor activity (GO:0030284)|estrogen response element binding (GO:0034056)|estrogen-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0038052)|identical protein binding (GO:0042802)|nitric-oxide synthase regulator activity (GO:0030235)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(19)|ovary(1)|prostate(2)|skin(1)	49		Ovarian(120;0.0448)	BRCA - Breast invasive adenocarcinoma(37;0.0841)	OV - Ovarian serous cystadenocarcinoma(155;4.55e-10)	Allylestrenol(DB01431)|Clomifene(DB00882)|Conjugated Estrogens(DB00286)|Danazol(DB01406)|Desogestrel(DB00304)|Dienestrol(DB00890)|Diethylstilbestrol(DB00255)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estrone(DB00655)|Estropipate(DB04574)|Ethinyl Estradiol(DB00977)|Ethynodiol(DB00823)|Etonogestrel(DB00294)|Fluoxymesterone(DB01185)|Fulvestrant(DB00947)|Levonorgestrel(DB00367)|Medroxyprogesterone Acetate(DB00603)|Melatonin(DB01065)|Mestranol(DB01357)|Naloxone(DB01183)|Norgestimate(DB00957)|Ospemifene(DB04938)|Progesterone(DB00396)|Quinestrol(DB04575)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Toremifene(DB00539)|Trilostane(DB01108)	TGGAGGAGACGGACCAAAGCC	0.607																																						ENST00000440973.1																			0				NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(19)|ovary(1)|prostate(2)|skin(1)	49						c.(1687-1689)acG>acA		estrogen receptor 1	Chlorotrianisene(DB00269)|Clomifene(DB00882)|Conjugated Estrogens(DB00286)|Danazol(DB01406)|Desogestrel(DB00304)|Dienestrol(DB00890)|Diethylstilbestrol(DB00255)|Dromostanolone(DB00858)|Drospirenone(DB01395)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estrone(DB00655)|Ethinyl Estradiol(DB00977)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Fluoxymesterone(DB01185)|Fulvestrant(DB00947)|Letrozole(DB01006)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Melatonin(DB01065)|Mestranol(DB01357)|Naloxone(DB01183)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396)|Quinestrol(DB04575)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Toremifene(DB00539)	G	,,,	1,4405	2.1+/-5.4	0,1,2202	87	78	81		1689,1689,1689,1689	-6.2	0	6	dbSNP_134	81	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	ESR1	NM_000125.3,NM_001122740.1,NM_001122741.1,NM_001122742.1	,,,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,,,	563/596,563/596,563/596,563/596	152420002	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	2099				positive regulation of retinoic acid receptor signaling pathway|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to estradiol stimulus	chromatin remodeling complex|cytoplasm|nucleoplasm	beta-catenin binding|enzyme binding|estrogen receptor activity|estrogen response element binding|nitric-oxide synthase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|zinc ion binding	g.chr6:152420002G>A	X03635	CCDS5234.1	6q24-q27	2013-01-16			ENSG00000091831	ENSG00000091831		"Nuclear hormone receptors"	3467	protein-coding gene	gene with protein product		133430		ESR		3754034	Standard	NM_000125		Approved	NR3A1, Era	uc003qon.4	P03372	OTTHUMG00000016103	ENST00000206249.3:c.1689G>A	6.37:g.152420002G>A						ESR1_ENST00000456483.2_Silent_p.T451T|ESR1_ENST00000338799.5_Silent_p.T563T|ESR1_ENST00000544394.1_Intron|ESR1_ENST00000443427.1_Silent_p.T563T|ESR1_ENST00000406599.1_Silent_p.T302T|ESR1_ENST00000206249.3_Silent_p.T563T	p.T563T	NM_001122742.1	NP_001116214.1	P03372	ESR1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.0841)	OV - Ovarian serous cystadenocarcinoma(155;4.55e-10)	10	2059	+		Ovarian(120;0.0448)	563			Interaction with AKAP13.		Q13511|Q14276|Q5T5H7|Q6MZQ9|Q9NU51|Q9UDZ7|Q9UIS7	Silent	SNP	ENST00000206249.3	37	c.1689G>A	CCDS5234.1																																																																																				0.607	ESR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043308.1			3	42	0	0	0	1	0	3	42					A	152420002	G	A	152420002	2	1	289	1	0	0	0	0	0	0	0	1	5256	1103	39	2		2	ESR1	6	152420002	Silent	SNP	G	TCGA-J9-A8CK-01A-11D-A34U-08	21228776	152420002	18695065	11	13922											
CREB3L2	64764	broad.mit.edu	37	chr7	137569752	137569752	+	Frame_Shift_Del	DEL	G	G	-																															ctgtcttacccacggaggctGtgtagggctcctgcagggaa																										TCGA-J9-A8CK-01A-11D-A34U-08	TCGA-J9-A8CK-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc4c0fab-2cb2-4203-a0ed-c5fef2446f5e	aca8551c-6477-4cd2-a7d0-72b093c56a69	g.chr7:137569752delG	ENST00000330387.6	-	10	1610	c.1259delC	c.(1258-1260)acafs	p.T420fs	CREB3L2_ENST00000456390.1_Frame_Shift_Del_p.T420fs	NM_194071.3	NP_919047.2	Q70SY1	CR3L2_HUMAN	cAMP responsive element binding protein 3-like 2	420					cartilage development (GO:0051216)|chondrocyte differentiation (GO:0002062)|ER to Golgi vesicle-mediated transport (GO:0006888)|positive regulation of transcription, DNA-templated (GO:0045893)|response to endoplasmic reticulum stress (GO:0034976)|response to unfolded protein (GO:0006986)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	cAMP response element binding (GO:0035497)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|transcription regulatory region DNA binding (GO:0044212)		FUS/CREB3L2(158)	breast(1)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19						CACGGAGGCTGTGTAGGGCTC	0.532			T	FUS	fibromyxoid sarcoma																																	ENST00000330387.6				Dom	yes		7	7q34	64764	T	cAMP responsive element binding protein 3-like 2			M	FUS		fibromyxoid sarcoma	FUS/CREB3L2(158)	0				breast(1)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19						c.(1258-1260)aafs		cAMP responsive element binding protein 3-like 2							87	82	84					7																	137569752		2203	4300	6503	SO:0001589	frameshift_variant	64764				chondrocyte differentiation|positive regulation of transcription, DNA-dependent|response to endoplasmic reticulum stress|response to unfolded protein	endoplasmic reticulum membrane|integral to membrane|nucleus	cAMP response element binding|protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:137569752delG	AJ549092	CCDS34760.1, CCDS59083.1	7q34	2013-01-10			ENSG00000182158	ENSG00000182158		"basic leucine zipper proteins"	23720	protein-coding gene	gene with protein product		608834					Standard	NM_194071		Approved	BBF2H7, TCAG_1951439	uc003vtw.3	Q70SY1	OTTHUMG00000155744	ENST00000330387.6:c.1259delC	7.37:g.137569752delG	ENSP00000329140:p.Thr420fs					CREB3L2_ENST00000456390.1_Frame_Shift_Del_p.T420fs	p.T420fs	NM_194071.3	NP_919047.2	Q70SY1	CR3L2_HUMAN			10	1610	-			420					Q6P454|Q6ZMR6	Frame_Shift_Del	DEL	ENST00000330387.6	37	c.1259delC	CCDS34760.1																																																																																				0.532	CREB3L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341462.1	NM_194071		16	71						16	71	---	---	---	---	-	137569752	G	-	137569752	7	5	289	1	0	1	0	1	0	0	0	0	3857	1377	48	0	315	0	CREB3L2	7	137569752	Frame_Shift_Del	DEL	G	TCGA-J9-A8CK-01A-11D-A34U-08		137569752	21568911	12	13923											
SUSD1	64420	broad.mit.edu	37	chr9	114820961	114820961	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggggaagcactaacacctgaTatgaactggaagaaaaaagg	18	5	12	6	0	0	3	0	2	0	1	0	5	0	5	1	4	3	1	1	4	8	2			TCGA-J9-A8CK-01A-11D-A34U-08	TCGA-J9-A8CK-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc4c0fab-2cb2-4203-a0ed-c5fef2446f5e	aca8551c-6477-4cd2-a7d0-72b093c56a69	g.chr9:114820961T>C	ENST00000374270.3	-	14	2028	c.1856A>G	c.(1855-1857)tAt>tGt	p.Y619C	SUSD1_ENST00000374264.2_Missense_Mutation_p.Y619C|SUSD1_ENST00000374263.3_Missense_Mutation_p.Y619C	NM_022486.3	NP_071931.2	Q6UWL2	SUSD1_HUMAN	sushi domain containing 1	619						integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)		SUSD1/ROD1(2)	central_nervous_system(1)|endometrium(4)|large_intestine(8)|lung(11)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28						TAACACCTGATATGAACTGGA	0.453																																						ENST00000374270.3																		SUSD1/ROD1(2)	0				central_nervous_system(1)|endometrium(4)|large_intestine(8)|lung(11)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28						c.(1855-1857)tAt>tGt		sushi domain containing 1							79	86	84					9																	114820961		2203	4300	6503	SO:0001583	missense	64420					integral to membrane	calcium ion binding	g.chr9:114820961T>C	AL137432	CCDS6783.1, CCDS65105.1, CCDS65106.1	9q31.3-q33.1	2008-02-05			ENSG00000106868	ENSG00000106868			25413	protein-coding gene	gene with protein product						12975309	Standard	NM_022486		Approved	DKFZP761E1824	uc004bfu.3	Q6UWL2	OTTHUMG00000020499	ENST00000374270.3:c.1856A>G	9.37:g.114820961T>C	ENSP00000363388:p.Tyr619Cys					SUSD1_ENST00000374263.3_Missense_Mutation_p.Y619C|SUSD1_ENST00000374264.2_Missense_Mutation_p.Y619C	p.Y619C	NM_022486.3	NP_071931.2	Q6UWL2	SUSD1_HUMAN			14	2028	-			619					A1A4C5|A8KA03|Q5T8V6|Q5T8V7|Q6P9G7|Q8WU83|Q96DM9|Q9H6V2|Q9NTA7	Missense_Mutation	SNP	ENST00000374270.3	37	c.1856A>G	CCDS6783.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	19.13|19.13	3.768276|3.768276	0.69878|0.69878	.|.	.|.	ENSG00000106868|ENSG00000106868	ENST00000355396|ENST00000374270;ENST00000374263;ENST00000374264	.|T;T;T	.|0.81330	.|1.52;-1.48;1.52	5.44|5.44	5.44|5.44	0.79542|0.79542	.|.	.|0.000000	.|0.43579	.|D	.|0.000545	D|D	0.91088|0.91088	0.7195|0.7195	M|M	0.88105|0.88105	2.93|2.93	0.47065|0.47065	D|D	0.999309|0.999309	.|D;D;D	.|0.89917	.|1.0;1.0;1.0	.|D;D;D	.|0.91635	.|0.999;0.999;0.998	D|D	0.92812|0.92812	0.6265|0.6265	5|10	.|0.87932	.|D	.|0	-21.5796|-21.5796	15.4918|15.4918	0.75611|0.75611	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|619;619;619	.|F8WAQ1;Q6UWL2-2;Q6UWL2	.|.;.;SUSD1_HUMAN	M|C	602|619	.|ENSP00000363388:Y619C;ENSP00000363381:Y619C;ENSP00000363382:Y619C	.|ENSP00000363381:Y619C	I|Y	-|-	3|2	3|0	SUSD1|SUSD1	113860782|113860782	1.000000|1.000000	0.71417|0.71417	0.984000|0.984000	0.44739|0.44739	0.982000|0.982000	0.71751|0.71751	5.945000|5.945000	0.70226|0.70226	2.065000|2.065000	0.61736|0.61736	0.459000|0.459000	0.35465|0.35465	ATA|TAT		0.453	SUSD1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053668.3	NM_022486		8	50	0	0	0	1	0	8	50					C	114820961	T	C	114820961	3	2	289	1	0	0	0	0	1	0	0	0	15404	1406	49	4	403	4	SUSD1	9	114820961	Missense_Mutation	SNP	T	TCGA-J9-A8CK-01A-11D-A34U-08		114820961	26392470	13	13924											
COL5A1	1289	broad.mit.edu	37	chr9	137642401	137642401	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttcagggcccccctggacGcccaggccttcctggggccg	3	7	13	18	2	2	0	1	0	1	0	3	1	3	1	7	5	0	0	7	5	0	2	rs146716315		TCGA-J9-A8CK-01A-11D-A34U-08	TCGA-J9-A8CK-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc4c0fab-2cb2-4203-a0ed-c5fef2446f5e	aca8551c-6477-4cd2-a7d0-72b093c56a69	g.chr9:137642401G>A	ENST00000371817.3	+	12	1922	c.1508G>A	c.(1507-1509)cGc>cAc	p.R503H		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	503	Interrupted collagenous region.				axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular fibril organization (GO:0043206)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|eye morphogenesis (GO:0048592)|heart morphogenesis (GO:0003007)|integrin biosynthetic process (GO:0045112)|negative regulation of endodermal cell differentiation (GO:1903225)|regulation of cellular component organization (GO:0051128)|skin development (GO:0043588)|tendon development (GO:0035989)|wound healing, spreading of epidermal cells (GO:0035313)	basement membrane (GO:0005604)|collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|proteoglycan binding (GO:0043394)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		CCCCCTGGACGCCCAGGCCTT	0.662																																						ENST00000371817.3																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115						c.(1507-1509)cGc>cAc		collagen, type V, alpha 1							46	52	50					9																	137642401		2203	4300	6503	SO:0001583	missense	1289				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding	g.chr9:137642401G>A	D90279	CCDS6982.1, CCDS75932.1	9q34.2-q34.3	2014-09-17			ENSG00000130635	ENSG00000130635		"Collagens"	2209	protein-coding gene	gene with protein product	"alpha 1 type V collagen"	120215				1572660	Standard	NM_001278074		Approved		uc031tfl.1	P20908	OTTHUMG00000020891	ENST00000371817.3:c.1508G>A	9.37:g.137642401G>A	ENSP00000360882:p.Arg503His						p.R503H	NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)	12	1922	+		Myeloproliferative disorder(178;0.0341)	503			Interrupted collagenous region.		Q15094|Q5SUX4	Missense_Mutation	SNP	ENST00000371817.3	37	c.1508G>A	CCDS6982.1	.	.	.	.	.	.	.	.	.	.	G	16.42	3.118546	0.56505	.	.	ENSG00000130635	ENST00000371817	D	0.93604	-3.25	4.16	3.26	0.37387	.	0.000000	0.85682	U	0.000000	D	0.88851	0.6549	L	0.55103	1.725	0.48901	D	0.99972	P	0.35348	0.496	B	0.22753	0.041	D	0.86918	0.2065	10	0.72032	D	0.01	.	11.0374	0.47808	0.0955:0.0:0.9044:0.0	.	503	P20908	CO5A1_HUMAN	H	503	ENSP00000360882:R503H	ENSP00000360882:R503H	R	+	2	0	COL5A1	136782222	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	6.821000	0.75272	0.842000	0.35045	0.563000	0.77884	CGC		0.662	COL5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054954.2	NM_000093		12	36	0	0	0	1	0	12	36					A	137642401	G	A	137642401	3	1	289	1	0	0	0	0	1	0	0	0	3696	1087	38	1	1554	1	COL5A1	9	137642401	Missense_Mutation	SNP	G	TCGA-J9-A8CK-01A-11D-A34U-08	22821440	137642401	3571030	14	13925											
ANK3	288	broad.mit.edu	37	chr10	61848065	61848065	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatactgggggaaatctttcGtgataatcctgcagatacgc	12	11	10	8	2	1	2	0	1	1	1	3	3	2	3	1	2	3	1	1	2	5	4			TCGA-J9-A8CK-01A-11D-A34U-08	TCGA-J9-A8CK-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc4c0fab-2cb2-4203-a0ed-c5fef2446f5e	aca8551c-6477-4cd2-a7d0-72b093c56a69	g.chr10:61848065G>A	ENST00000280772.2	-	29	3571	c.3380C>T	c.(3379-3381)aCg>aTg	p.T1127M	ANK3_ENST00000373827.2_Missense_Mutation_p.T1121M|ANK3_ENST00000355288.2_Missense_Mutation_p.T261M|ANK3_ENST00000503366.1_Missense_Mutation_p.T1128M	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	1127	ZU5 2. {ECO:0000255|PROSITE- ProRule:PRU00485}.				axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization (GO:0045184)|Golgi to plasma membrane protein transport (GO:0043001)|maintenance of protein location in plasma membrane (GO:0072660)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|neuromuscular junction development (GO:0007528)|neuronal action potential (GO:0019228)|plasma membrane organization (GO:0007009)|positive regulation of cell communication by electrical coupling (GO:0010650)|positive regulation of gene expression (GO:0010628)|positive regulation of homotypic cell-cell adhesion (GO:0034112)|positive regulation of membrane depolarization during cardiac muscle cell action potential (GO:1900827)|positive regulation of membrane potential (GO:0045838)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein localization to plasma membrane (GO:0072659)|protein targeting to plasma membrane (GO:0072661)|regulation of potassium ion transport (GO:0043266)|signal transduction (GO:0007165)	axon initial segment (GO:0043194)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|costamere (GO:0043034)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|lysosome (GO:0005764)|neuromuscular junction (GO:0031594)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|T-tubule (GO:0030315)|Z disc (GO:0030018)	cadherin binding (GO:0045296)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						GAAATCTTTCGTGATAATCCT	0.433																																						ENST00000280772.1																			0				NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						c.(3379-3381)aCg>aTg		ankyrin 3, node of Ranvier (ankyrin G)							108	109	109					10																	61848065		2203	4300	6503	SO:0001583	missense	288				establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding	g.chr10:61848065G>A	U13616	CCDS7258.1, CCDS7259.1, CCDS55711.1, CCDS55712.1	10q21	2013-01-10			ENSG00000151150	ENSG00000151150		"Ankyrin repeat domain containing"	494	protein-coding gene	gene with protein product	"ankyrin-3, node of Ranvier", "ankyrin-G"	600465				7665168	Standard	NM_020987		Approved		uc001jky.3	Q12955	OTTHUMG00000018288	ENST00000280772.2:c.3380C>T	10.37:g.61848065G>A	ENSP00000280772:p.Thr1127Met					ANK3_ENST00000373827.2_Missense_Mutation_p.T1121M|ANK3_ENST00000355288.2_Missense_Mutation_p.T261M|ANK3_ENST00000503366.1_Missense_Mutation_p.T1128M	p.T1127M	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN			29	3571	-			1127					B1AQT2|B4DIL1|E9PE32|Q13484|Q5CZH9|Q5VXD5|Q7Z3G4|Q9H0P5	Missense_Mutation	SNP	ENST00000280772.2	37	c.3380C>T	CCDS7258.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	33|33	5.218208|5.218208	0.95104|0.95104	.|.	.|.	ENSG00000151150|ENSG00000151150	ENST00000467420|ENST00000280772;ENST00000373827;ENST00000355288;ENST00000423532;ENST00000503366;ENST00000395299;ENST00000373817;ENST00000395293;ENST00000395304;ENST00000544789;ENST00000536348	.|T;T;T;T	.|0.74632	.|-0.5;-0.86;-0.86;-0.86	6.17|6.17	6.17|6.17	0.99709|0.99709	.|.	.|0.000000	.|0.43416	.|D	.|0.000572	.|D	.|0.89770	.|0.6811	M|M	0.89785|0.89785	3.06|3.06	0.80722|0.80722	D|D	1|1	.|D;D;D;D;D;D;D	.|0.89917	.|1.0;1.0;1.0;1.0;1.0;1.0;1.0	.|D;D;D;D;D;D;D	.|0.97110	.|1.0;1.0;1.0;1.0;1.0;1.0;1.0	.|D	.|0.90263	.|0.4302	.|10	.|0.87932	.|D	.|0	.|.	20.8794|20.8794	0.99867|0.99867	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|1128;261;660;1121;1127;362;261	.|E9PE32;A8KA62;Q59G01;Q5CZH9;Q12955;F5GXK0;B1AQT2	.|.;.;.;.;ANK3_HUMAN;.;.	X|M	185|1127;1121;261;261;1128;1107;362;762;762;260;660	.|ENSP00000280772:T1127M;ENSP00000362933:T1121M;ENSP00000347436:T261M;ENSP00000425236:T1128M	.|ENSP00000280772:T1127M	R|T	-|-	1|2	2|0	ANK3|ANK3	61518071|61518071	1.000000|1.000000	0.71417|0.71417	0.993000|0.993000	0.49108|0.49108	0.987000|0.987000	0.75469|0.75469	9.448000|9.448000	0.97600|0.97600	2.941000|2.941000	0.99782|0.99782	0.655000|0.655000	0.94253|0.94253	CGA|ACG		0.433	ANK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048201.4	NM_020987		36	53	0	0	0	1	0	36	53					A	61848065	G	A	61848065	3	1	289	1	0	0	0	0	1	0	0	0	622	1145	40	1	10126	1	ANK3	10	61848065	Missense_Mutation	SNP	G	TCGA-J9-A8CK-01A-11D-A34U-08		61848065	73686682	15	13926											
CYP2C9	1559	broad.mit.edu	37	chr10	96731943	96731943	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtttggagctgggacagagaCgacaagcacaaccctgagat	13	6	13	9	1	0	2	0	1	0	2	0	7	0	4	1	2	3	3	1	2	2	1			TCGA-J9-A8CK-01A-11D-A34U-08	TCGA-J9-A8CK-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc4c0fab-2cb2-4203-a0ed-c5fef2446f5e	aca8551c-6477-4cd2-a7d0-72b093c56a69	g.chr10:96731943C>T	ENST00000260682.6	+	6	914	c.902C>T	c.(901-903)aCg>aTg	p.T301M		NM_000771.3	NP_000762.2	P11712	CP2C9_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 9	301					arachidonic acid metabolic process (GO:0019369)|cellular amide metabolic process (GO:0043603)|drug catabolic process (GO:0042737)|drug metabolic process (GO:0017144)|epoxygenase P450 pathway (GO:0019373)|exogenous drug catabolic process (GO:0042738)|monocarboxylic acid metabolic process (GO:0032787)|monoterpenoid metabolic process (GO:0016098)|omega-hydroxylase P450 pathway (GO:0097267)|oxidation-reduction process (GO:0055114)|oxidative demethylation (GO:0070989)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|urea metabolic process (GO:0019627)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)	(R)-limonene 6-monooxygenase activity (GO:0052741)|(S)-limonene 6-monooxygenase activity (GO:0018675)|(S)-limonene 7-monooxygenase activity (GO:0018676)|caffeine oxidase activity (GO:0034875)|drug binding (GO:0008144)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity (GO:0016491)|steroid hydroxylase activity (GO:0008395)			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	34		Colorectal(252;0.0902)		all cancers(201;6.93e-05)	Acenocoumarol(DB01418)|Acetaminophen(DB00316)|Acetylsalicylic acid(DB00945)|Agomelatine(DB06594)|Alosetron(DB00969)|Alprazolam(DB00404)|Aminophenazone(DB01424)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amodiaquine(DB00613)|Amprenavir(DB00701)|Anastrozole(DB01217)|Antipyrine(DB01435)|Apixaban(DB06605)|Aprepitant(DB00673)|Arformoterol(DB01274)|Artemether(DB06697)|Atazanavir(DB01072)|Atorvastatin(DB01076)|Atovaquone(DB01117)|Azelastine(DB00972)|Bexarotene(DB00307)|Bicalutamide(DB01128)|Bortezomib(DB00188)|Bosentan(DB00559)|Brompheniramine(DB00835)|Buprenorphine(DB00921)|Bupropion(DB01156)|Cabozantinib(DB08875)|Caffeine(DB00201)|Candesartan(DB00796)|Capecitabine(DB01101)|Carbamazepine(DB00564)|Carbinoxamine(DB00748)|Carvedilol(DB01136)|Celecoxib(DB00482)|Chloramphenicol(DB00446)|Chlorpropamide(DB00672)|Cholecalciferol(DB00169)|Cimetidine(DB00501)|Cinnarizine(DB00568)|Cisapride(DB00604)|Cisplatin(DB00515)|Clevidipine(DB04920)|Clopidogrel(DB00758)|Clotrimazole(DB00257)|Clozapine(DB00363)|Cocaine(DB00907)|Colchicine(DB01394)|Cyclizine(DB01176)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dapagliflozin(DB06292)|Dapsone(DB00250)|Delavirdine(DB00705)|Desloratadine(DB00967)|Dexamethasone(DB01234)|Dexfenfluramine(DB01191)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Diazepam(DB00829)|Diclofenac(DB00586)|Diclofenamide(DB01144)|Dicoumarol(DB00266)|Diethylstilbestrol(DB00255)|Diltiazem(DB00343)|Diphenhydramine(DB01075)|Disulfiram(DB00822)|Dolasetron(DB00757)|Donepezil(DB00843)|Dopamine(DB00988)|Dorzolamide(DB00869)|Doxepin(DB01142)|Dronabinol(DB00470)|Efavirenz(DB00625)|Eletriptan(DB00216)|Enzalutamide(DB08899)|Epinephrine(DB00668)|Epoprostenol(DB01240)|Eprosartan(DB00876)|Estradiol(DB00783)|Estrone(DB00655)|Estropipate(DB04574)|Eszopiclone(DB00402)|Ethanol(DB00898)|Etodolac(DB00749)|Etoricoxib(DB01628)|Etravirine(DB06414)|Felodipine(DB01023)|Fenofibrate(DB01039)|Flecainide(DB01195)|Fluconazole(DB00196)|Flunarizine(DB04841)|Flunitrazepam(DB01544)|Fluorouracil(DB00544)|Fluoxetine(DB00472)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Gefitinib(DB00317)|Gemfibrozil(DB01241)|Ginkgo biloba(DB01381)|Gliclazide(DB01120)|Glimepiride(DB00222)|Glipizide(DB01067)|Glyburide(DB01016)|Guanfacine(DB01018)|Haloperidol(DB00502)|Halothane(DB01159)|Hexobarbital(DB01355)|Histamine Phosphate(DB00667)|Human Serum Albumin(DB00062)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Idarubicin(DB01177)|Ifosfamide(DB01181)|Imatinib(DB00619)|Indinavir(DB00224)|Indomethacin(DB00328)|Irbesartan(DB01029)|Isoniazid(DB00951)|Ketamine(DB01221)|Ketobemidone(DB06738)|Ketoconazole(DB01026)|Ketoprofen(DB01009)|Lansoprazole(DB00448)|Leflunomide(DB01097)|Lidocaine(DB00281)|Lopinavir(DB01601)|Loratadine(DB00455)|Lornoxicam(DB06725)|Losartan(DB00678)|Lovastatin(DB00227)|Lumiracoxib(DB01283)|Medroxyprogesterone Acetate(DB00603)|Mefenamic acid(DB00784)|Melatonin(DB01065)|Meloxicam(DB00814)|Mestranol(DB01357)|Methadone(DB00333)|Methazolamide(DB00703)|Methimazole(DB00763)|Methoxyflurane(DB01028)|Metronidazole(DB00916)|Miconazole(DB01110)|Mirtazapine(DB00370)|Moclobemide(DB01171)|Modafinil(DB00745)|Montelukast(DB00471)|Naproxen(DB00788)|Nateglinide(DB00731)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicardipine(DB00622)|Niclosamide(DB06803)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nilutamide(DB00665)|Nilvadipine(DB06712)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Omeprazole(DB00338)|Ondansetron(DB00904)|Ospemifene(DB04938)|Oxaprozin(DB00991)|Paclitaxel(DB01229)|Pantoprazole(DB00213)|Paramethadione(DB00617)|Paroxetine(DB00715)|Perphenazine(DB00850)|Phenobarbital(DB01174)|Phenprocoumon(DB00946)|Phentermine(DB00191)|Phenylbutazone(DB00812)|Phenytoin(DB00252)|Pioglitazone(DB01132)|Piroxicam(DB00554)|Pitavastatin(DB08860)|Pranlukast(DB01411)|Prasugrel(DB06209)|Pravastatin(DB00175)|Primidone(DB00794)|Probenecid(DB01032)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Promethazine(DB01069)|Propafenone(DB01182)|Propofol(DB00818)|Pyrimethamine(DB00205)|Quazepam(DB01589)|Quinidine(DB00908)|Quinine(DB00468)|Rabeprazole(DB01129)|Regorafenib(DB08896)|Rifampicin(DB01045)|Rifapentine(DB01201)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Rosuvastatin(DB01098)|Salicylic acid(DB00936)|Saquinavir(DB01232)|Secobarbital(DB00418)|Selegiline(DB01037)|Sertraline(DB01104)|Sildenafil(DB00203)|Simvastatin(DB00641)|Sitaxentan(DB06268)|Sorafenib(DB00398)|Sulfadiazine(DB00359)|Sulfadimethoxine(DB06150)|Sulfamethizole(DB00576)|Sulfamethoxazole(DB01015)|Sulfamoxole(DB08798)|Sulfanilamide(DB00259)|Sulfaphenazole(DB06729)|Sulfapyridine(DB00891)|Sulfinpyrazone(DB01138)|Sulfisoxazole(DB00263)|Suprofen(DB00870)|Tamoxifen(DB00675)|Tapentadol(DB06204)|Temazepam(DB00231)|Teniposide(DB00444)|Tenoxicam(DB00469)|Terbinafine(DB00857)|Testosterone(DB00624)|Thalidomide(DB01041)|Theophylline(DB00277)|Thiamylal(DB01154)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tioconazole(DB01007)|Tolbutamide(DB01124)|Tolcapone(DB00323)|Tolterodine(DB01036)|Torasemide(DB00214)|Trabectedin(DB05109)|Tranylcypromine(DB00752)|Treprostinil(DB00374)|Tretinoin(DB00755)|Triazolam(DB00897)|Trimethadione(DB00347)|Trimethoprim(DB00440)|Trimipramine(DB00726)|Troleandomycin(DB01361)|Valproic Acid(DB00313)|Valsartan(DB00177)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vismodegib(DB08828)|Voriconazole(DB00582)|Warfarin(DB00682)|Ximelagatran(DB04898)|Zafirlukast(DB00549)|Zalcitabine(DB00943)|Zidovudine(DB00495)|Zileuton(DB00744)|Zolpidem(DB00425)|Zopiclone(DB01198)	GGGACAGAGACGACAAGCACA	0.418																																					Ovarian(54;1266 1406 16072 35076)	ENST00000260682.6																			0				breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						c.(901-903)aCg>aTg		cytochrome P450, family 2, subfamily C, polypeptide 9	Acenocoumarol(DB01418)|Alosetron(DB00969)|Amiodarone(DB01118)|Antihemophilic Factor(DB00025)|Aprepitant(DB00673)|Bosentan(DB00559)|Carprofen(DB00821)|Carvedilol(DB01136)|Celecoxib(DB00482)|Clomipramine(DB01242)|Dapsone(DB00250)|Delavirdine(DB00705)|Desloratadine(DB00967)|Desogestrel(DB00304)|Diclofenac(DB00586)|Esomeprazole(DB00736)|Etodolac(DB00749)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Gemfibrozil(DB01241)|Ginkgo biloba(DB01381)|Glibenclamide(DB01016)|Glimepiride(DB00222)|Glipizide(DB01067)|Guanfacine(DB01018)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Imipramine(DB00458)|Irbesartan(DB01029)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Losartan(DB00678)|Lumiracoxib(DB01283)|Marinol(DB00470)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mephenytoin(DB00532)|Metronidazole(DB00916)|Miconazole(DB01110)|Midazolam(DB00683)|Montelukast(DB00471)|Nateglinide(DB00731)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Oxymorphone(DB01192)|Pantoprazole(DB00213)|Paramethadione(DB00617)|Phenprocoumon(DB00946)|Phenytoin(DB00252)|Pravastatin(DB00175)|Quinidine(DB00908)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Sertraline(DB01104)|Sildenafil(DB00203)|Sulfamethoxazole(DB01015)|Suprofen(DB00870)|Tamoxifen(DB00675)|Tenoxicam(DB00469)|Terfenadine(DB00342)|Tolbutamide(DB01124)|Torasemide(DB00214)|Troleandomycin(DB01361)|Valdecoxib(DB00580)|Valsartan(DB00177)|Voriconazole(DB00582)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zileuton(DB00744)						182	170	174					10																	96731943		2203	4300	6503	SO:0001583	missense	1559				exogenous drug catabolic process|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative demethylation|steroid metabolic process|urea metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|caffeine oxidase activity|drug binding|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity	g.chr10:96731943C>T	M61855	CCDS7437.1	10q24.1	2007-12-14	2003-01-14		ENSG00000138109	ENSG00000138109		"Cytochrome P450s"	2623	protein-coding gene	gene with protein product		601130	"cytochrome P450, subfamily IIC (mephenytoin 4-hydroxylase), polypeptide 9"	CYP2C10		2009263, 7841444	Standard	NM_000771		Approved	P450IIC9	uc001kka.4	P11712	OTTHUMG00000018805	ENST00000260682.6:c.902C>T	10.37:g.96731943C>T	ENSP00000260682:p.Thr301Met						p.T301M	NM_000771.3	NP_000762.2	P11712	CP2C9_HUMAN		all cancers(201;6.93e-05)	6	914	+		Colorectal(252;0.0902)	301					P11713|Q16756|Q16872|Q5VX92|Q6IRV8|Q8WW80	Missense_Mutation	SNP	ENST00000260682.6	37	c.902C>T	CCDS7437.1	.	.	.	.	.	.	.	.	.	.	.	17.02	3.282883	0.59867	.	.	ENSG00000138109	ENST00000545448;ENST00000260682	D	0.87966	-2.32	2.95	2.95	0.34219	.	0.000000	0.64402	U	0.000001	D	0.95570	0.8560	H	0.98559	4.265	0.42909	D	0.99425	D;D	0.89917	1.0;1.0	D;D	0.80764	0.994;0.994	D	0.96261	0.9191	10	0.87932	D	0	.	11.6787	0.51444	0.0:1.0:0.0:0.0	.	301;301	Q5VX92;P11712	.;CP2C9_HUMAN	M	301	ENSP00000260682:T301M	ENSP00000260682:T301M	T	+	2	0	CYP2C9	96721933	0.999000	0.42202	0.997000	0.53966	0.801000	0.45260	4.731000	0.62022	1.653000	0.50694	0.484000	0.47621	ACG		0.418	CYP2C9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049501.1	NM_000771		26	74	0	0	0	1	0	26	74					T	96731943	C	T	96731943	3	4	289	1	0	0	0	0	1	0	0	0	4168	536	19	1	924	1	CYP2C9	10	96731943	Missense_Mutation	SNP	C	TCGA-J9-A8CK-01A-11D-A34U-08	34883878	96731943	38802804	16	13927											
ZNF408	79797	broad.mit.edu	37	chr11	46727386	46727386	+	Frame_Shift_Del	DEL	G	G	-																															ggcctcggcgcctgggcagaGgtggtggaggtggagatggg																										TCGA-J9-A8CK-01A-11D-A34U-08	TCGA-J9-A8CK-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc4c0fab-2cb2-4203-a0ed-c5fef2446f5e	aca8551c-6477-4cd2-a7d0-72b093c56a69	g.chr11:46727386delG	ENST00000311764.2	+	5	2366	c.2136delG	c.(2134-2136)gagfs	p.E712fs		NM_001184751.1|NM_024741.2	NP_001171680.1|NP_079017.1	Q9H9D4	ZN408_HUMAN	zinc finger protein 408	712					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						CCTGGGCAGAGGTGGTGGAGG	0.572																																					Pancreas(79;698 1390 6545 18745 34127)|Esophageal Squamous(120;1014 1625 12837 24601 49525)	ENST00000311764.2																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(2134-2136)gafs		zinc finger protein 408							25	25	25					11																	46727386		2201	4299	6500	SO:0001589	frameshift_variant	79797				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|identical protein binding|zinc ion binding	g.chr11:46727386delG	AF346626	CCDS7923.1	11p11.2	2008-02-05			ENSG00000175213	ENSG00000175213		"Zinc fingers, C2H2-type"	20041	protein-coding gene	gene with protein product						15231747	Standard	NM_024741		Approved	FLJ12827	uc010rgw.2	Q9H9D4	OTTHUMG00000166568	ENST00000311764.2:c.2136delG	11.37:g.46727386delG	ENSP00000309606:p.Glu712fs						p.E712fs	NM_001184751.1|NM_024741.2	NP_001171680.1|NP_079017.1	Q9H9D4	ZN408_HUMAN			5	2366	+			712						Frame_Shift_Del	DEL	ENST00000311764.2	37	c.2136delG	CCDS7923.1																																																																																				0.572	ZNF408-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390485.2	NM_024741		2	4						2	4	---	---	---	---	-	46727386	G	-	46727386	7	5	289	1	0	1	0	1	0	0	0	0	17885	991	35	0	2186	0	ZNF408	11	46727386	Frame_Shift_Del	DEL	G	TCGA-J9-A8CK-01A-11D-A34U-08		46727386	88279130	17	13928											
ETV6	2120	broad.mit.edu	37	chr12	12038866	12038866	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctttgaacaaacagaacagaAcaaacatgacctatgagaaa	21	6	6	8	0	0	5	0	3	0	3	0	6	0	5	1	0	5	0	1	0	7	2			TCGA-J9-A8CK-01A-11D-A34U-08	TCGA-J9-A8CK-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc4c0fab-2cb2-4203-a0ed-c5fef2446f5e	aca8551c-6477-4cd2-a7d0-72b093c56a69	g.chr12:12038866A>G	ENST00000396373.4	+	7	1433	c.1159A>G	c.(1159-1161)Aca>Gca	p.T387A		NM_001987.4	NP_001978.1	P41212	ETV6_HUMAN	ets variant 6	387					cell differentiation (GO:0030154)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)	protein domain specific binding (GO:0019904)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)		ETV6/JAK2(11)|ETV6/ITPR2(2)|ETV6/NTRK3(238)	breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(15)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(2;1.88e-12)|Acute lymphoblastic leukemia(2;6.91e-39)|all_hematologic(2;2.7e-36)				ACAGAACAGAACAAACATGAC	0.418			T	"NTRK3, RUNX1, PDGFRB, ABL1, MN1, ABL2, FACL6, CHIC2, ARNT, JAK2, EVI1, CDX2, STL, HLXB9, MDS2, PER1, SYK, TTL, FGFR3, PAX5"	"congenital fibrosarcoma, multiple leukemia and lymphoma,  secretory breast, MDS, ALL"																																	ENST00000396373.4				Dom	yes		12	12p13	2120	T	ets variant gene 6 (TEL oncogene)			"L, E, M"	"NTRK3, RUNX1, PDGFRB, ABL1, MN1, ABL2, FACL6, CHIC2, ARNT, JAK2, EVI1, CDX2, STL, HLXB9, MDS2, PER1, SYK, TTL, FGFR3, PAX5"		"congenital fibrosarcoma, multiple leukemia and lymphoma,  secretory breast, MDS, ALL"	ETV6/JAK2(11)|ETV6/ITPR2(2)|ETV6/NTRK3(238)	0				breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(15)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						c.(1159-1161)Aca>Gca		ets variant 6							103	97	99					12																	12038866		2203	4300	6503	SO:0001583	missense	2120					cytoplasm|nucleolus	protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr12:12038866A>G	BC043399	CCDS8643.1	12p13	2014-09-17	2008-09-12		ENSG00000139083	ENSG00000139083			3495	protein-coding gene	gene with protein product	"TEL oncogene"	600618	"ets variant gene 6 (TEL oncogene)"			7731705	Standard	NM_001987		Approved	TEL	uc001qzz.3	P41212	OTTHUMG00000168538	ENST00000396373.4:c.1159A>G	12.37:g.12038866A>G	ENSP00000379658:p.Thr387Ala						p.T387A	NM_001987.4	NP_001978.1	P41212	ETV6_HUMAN			7	1433	+		all_cancers(2;1.88e-12)|Acute lymphoblastic leukemia(2;6.91e-39)|all_hematologic(2;2.7e-36)	387					A3QVP6|A8K076|Q9UMF6|Q9UMF7|Q9UMG0	Missense_Mutation	SNP	ENST00000396373.4	37	c.1159A>G	CCDS8643.1	.	.	.	.	.	.	.	.	.	.	A	15.29	2.789628	0.50102	.	.	ENSG00000139083	ENST00000396373	T	0.13538	2.58	4.95	4.95	0.65309	Winged helix-turn-helix transcription repressor DNA-binding (1);Ets (5);	0.000000	0.85682	D	0.000000	T	0.09642	0.0237	N	0.11818	0.18	0.54753	D	0.999989	B	0.11235	0.004	B	0.25884	0.064	T	0.21655	-1.0239	10	0.30854	T	0.27	.	14.5783	0.68265	1.0:0.0:0.0:0.0	.	387	P41212	ETV6_HUMAN	A	387	ENSP00000379658:T387A	ENSP00000379658:T387A	T	+	1	0	ETV6	11930133	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.528000	0.60580	1.992000	0.58205	0.533000	0.62120	ACA		0.418	ETV6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400130.2	NM_001987		7	74	0	0	0	1	0	7	74					G	12038866	A	G	12038866	3	3	289	1	0	0	0	0	1	0	0	0	5283	43	2	4	1185	4	ETV6	12	12038866	Missense_Mutation	SNP	A	TCGA-J9-A8CK-01A-11D-A34U-08		12038866	121813029	18	13929											
TMEM5	10329	broad.mit.edu	37	chr12	64174844	64174844	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atggaatccttgggaaggagAtgaaaaaaatgagcaacaac	19	6	11	5	0	0	3	0	2	0	1	1	6	1	5	1	3	3	1	1	3	7	1			TCGA-J9-A8CK-01A-11D-A34U-08	TCGA-J9-A8CK-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc4c0fab-2cb2-4203-a0ed-c5fef2446f5e	aca8551c-6477-4cd2-a7d0-72b093c56a69	g.chr12:64174844A>G	ENST00000261234.6	+	2	373	c.215A>G	c.(214-216)gAt>gGt	p.D72G	RP11-415I12.3_ENST00000509615.2_RNA|TMEM5_ENST00000537982.1_3'UTR|TMEM5_ENST00000537373.1_5'UTR	NM_014254.1	NP_055069.1	Q9Y2B1	TMEM5_HUMAN	transmembrane protein 5	72						integral component of plasma membrane (GO:0005887)				breast(1)|large_intestine(3)|liver(2)|lung(7)|prostate(1)|skin(1)	15		Myeloproliferative disorder(1001;0.0255)	BRCA - Breast invasive adenocarcinoma(9;0.0985)	GBM - Glioblastoma multiforme(28;9e-08)|BRCA - Breast invasive adenocarcinoma(357;0.000175)		TGGGAAGGAGATGAAAAAAAT	0.348																																						ENST00000261234.6																			0				breast(1)|large_intestine(3)|liver(2)|lung(7)|prostate(1)|skin(1)	15						c.(214-216)gAt>gGt		transmembrane protein 5							90	96	94					12																	64174844		2203	4300	6503	SO:0001583	missense	10329					integral to plasma membrane		g.chr12:64174844A>G	AB015633	CCDS8966.1, CCDS61179.1	12q14.1	2013-05-07			ENSG00000118600	ENSG00000118600			13530	protein-coding gene	gene with protein product		605862				10072769, 23217329	Standard	NM_014254		Approved	HP10481	uc001srq.2	Q9Y2B1	OTTHUMG00000168730	ENST00000261234.6:c.215A>G	12.37:g.64174844A>G	ENSP00000261234:p.Asp72Gly					TMEM5_ENST00000537373.1_5'UTR|TMEM5_ENST00000537982.1_3'UTR|RP11-415I12.3_ENST00000509615.2_RNA	p.D72G	NM_014254.1	NP_055069.1	Q9Y2B1	TMEM5_HUMAN	BRCA - Breast invasive adenocarcinoma(9;0.0985)	GBM - Glioblastoma multiforme(28;9e-08)|BRCA - Breast invasive adenocarcinoma(357;0.000175)	2	373	+		Myeloproliferative disorder(1001;0.0255)	72					A8K017|Q6PKD6	Missense_Mutation	SNP	ENST00000261234.6	37	c.215A>G	CCDS8966.1	.	.	.	.	.	.	.	.	.	.	A	18.94	3.729193	0.69074	.	.	ENSG00000118600	ENST00000261234	T	0.32988	1.43	4.34	4.34	0.51931	.	0.105774	0.64402	D	0.000006	T	0.51143	0.1657	M	0.70595	2.14	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.50996	-0.8761	9	.	.	.	-12.5068	10.4561	0.44550	1.0:0.0:0.0:0.0	.	72	Q9Y2B1	TMEM5_HUMAN	G	72	ENSP00000261234:D72G	.	D	+	2	0	TMEM5	62461111	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	5.352000	0.66028	1.897000	0.54924	0.402000	0.26972	GAT		0.348	TMEM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400821.1	NM_014254		19	51	0	0	0	1	0	19	51					G	64174844	A	G	64174844	3	3	289	1	0	0	0	0	1	0	0	0	16171	333	12	4	221	4	TMEM5	12	64174844	Missense_Mutation	SNP	A	TCGA-J9-A8CK-01A-11D-A34U-08	52135978	64174844	69677051	19	13930											
VSIG10	54621	broad.mit.edu	37	chr12	118533490	118533490	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cagctggccggaggctagagTtggacgagagaaggaagaca	13	4	17	7	2	0	3	0	0	0	3	0	8	0	6	1	5	1	3	1	5	3	2			TCGA-J9-A8CK-01A-11D-A34U-08	TCGA-J9-A8CK-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc4c0fab-2cb2-4203-a0ed-c5fef2446f5e	aca8551c-6477-4cd2-a7d0-72b093c56a69	g.chr12:118533490T>C	ENST00000359236.5	-	2	485	c.209A>G	c.(208-210)aAc>aGc	p.N70S	VSIG10_ENST00000536905.1_5'UTR	NM_019086.5	NP_061959.2	Q8N0Z9	VSI10_HUMAN	V-set and immunoglobulin domain containing 10	70	Ig-like C2-type 1.					integral component of membrane (GO:0016021)				endometrium(5)|large_intestine(3)|lung(6)|skin(1)|stomach(1)|urinary_tract(1)	17						GAGGCTAGAGTTGGACGAGAG	0.572																																						ENST00000359236.5																			0				endometrium(5)|large_intestine(3)|lung(6)|skin(1)|stomach(1)|urinary_tract(1)	17						c.(208-210)aAc>aGc		V-set and immunoglobulin domain containing 10							71	84	80					12																	118533490		2146	4260	6406	SO:0001583	missense	54621					integral to membrane		g.chr12:118533490T>C		CCDS44992.1	12q24.23	2013-01-29			ENSG00000176834	ENSG00000176834		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	26078	protein-coding gene	gene with protein product						12477932	Standard	NM_019086		Approved		uc001tws.3	Q8N0Z9		ENST00000359236.5:c.209A>G	12.37:g.118533490T>C	ENSP00000352172:p.Asn70Ser					VSIG10_ENST00000536905.1_5'UTR	p.N70S	NM_019086.5	NP_061959.2	Q8N0Z9	VSI10_HUMAN			2	485	-			70			Ig-like C2-type 1.		Q9NWQ7	Missense_Mutation	SNP	ENST00000359236.5	37	c.209A>G	CCDS44992.1	.	.	.	.	.	.	.	.	.	.	T	8.347	0.830002	0.16749	.	.	ENSG00000176834	ENST00000359236;ENST00000538357	T;T	0.22945	1.93;1.93	4.99	3.85	0.44370	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);	0.292938	0.24433	N	0.038580	T	0.13884	0.0336	N	0.25201	0.72	0.27810	N	0.942177	B	0.17465	0.022	B	0.12837	0.008	T	0.28713	-1.0035	10	0.08381	T	0.77	-12.0375	8.4743	0.33003	0.0:0.0897:0.0:0.9103	.	70	Q8N0Z9	VSI10_HUMAN	S	70	ENSP00000352172:N70S;ENSP00000442861:N70S	ENSP00000352172:N70S	N	-	2	0	VSIG10	117017873	0.847000	0.29606	0.775000	0.31657	0.078000	0.17371	1.283000	0.33237	0.936000	0.37367	0.533000	0.62120	AAC		0.572	VSIG10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401273.2	NM_019086		10	24	0	0	0	1	0	10	24					C	118533490	T	C	118533490	3	2	289	1	0	0	0	0	1	0	0	0	17220	1725	60	4	1445	4	VSIG10	12	118533490	Missense_Mutation	SNP	T	TCGA-J9-A8CK-01A-11D-A34U-08	54358646	118533490	15318405	20	13931											
PACS2	23241	broad.mit.edu	37	chr14	105818770	105818770	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgccccccagtggacaagTggagacagacctggccctga	9	5	13	14	0	0	3	0	1	0	2	0	5	0	4	5	3	1	1	5	3	1	0			TCGA-J9-A8CK-01A-11D-A34U-08	TCGA-J9-A8CK-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc4c0fab-2cb2-4203-a0ed-c5fef2446f5e	aca8551c-6477-4cd2-a7d0-72b093c56a69	g.chr14:105818770T>C	ENST00000325438.8	+	3	767	c.263T>C	c.(262-264)gTg>gCg	p.V88A	PACS2_ENST00000458164.2_Missense_Mutation_p.V88A|PACS2_ENST00000547217.1_Intron|PACS2_ENST00000430725.2_Missense_Mutation_p.V21A|PACS2_ENST00000447393.1_Missense_Mutation_p.V88A			Q86VP3	PACS2_HUMAN	phosphofurin acidic cluster sorting protein 2	88					apoptotic process (GO:0006915)|autophagic vacuole assembly (GO:0000045)|protein localization to pre-autophagosomal structure (GO:0034497)|protein targeting to plasma membrane (GO:0072661)|viral process (GO:0016032)	endoplasmic reticulum (GO:0005783)|mitochondrion (GO:0005739)				endometrium(2)|kidney(2)|lung(7)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	21		all_cancers(154;0.0351)|all_epithelial(191;0.153)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.0145)|Epithelial(46;0.036)	Epithelial(152;0.138)		AGTGGACAAGTGGAGACAGAC	0.567											OREG0022968	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000447393.1																			0				endometrium(2)|kidney(2)|lung(7)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	21						c.(262-264)gTg>gCg		phosphofurin acidic cluster sorting protein 2							233	194	207					14																	105818770		2203	4300	6503	SO:0001583	missense	23241				apoptosis|interspecies interaction between organisms	endoplasmic reticulum lumen|mitochondrion		g.chr14:105818770T>C	AB011174	CCDS32168.1, CCDS45178.1, CCDS45178.2, CCDS58339.1	14q32	2005-02-15	2005-02-15	2005-02-15		ENSG00000179364			23794	protein-coding gene	gene with protein product		610423	"phosphofurin acidic cluster sorting protein 1-like"	PACS1L		15692567	Standard	NM_001100913		Approved	KIAA0602	uc001yqu.3	Q86VP3	OTTHUMG00000170450	ENST00000325438.8:c.263T>C	14.37:g.105818770T>C	ENSP00000321834:p.Val88Ala		OREG0022968	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1392	PACS2_ENST00000458164.2_Missense_Mutation_p.V88A|PACS2_ENST00000430725.2_Missense_Mutation_p.V21A|PACS2_ENST00000325438.8_Missense_Mutation_p.V88A|PACS2_ENST00000547217.1_Intron	p.V88A	NM_015197.3	NP_056012.2	Q86VP3	PACS2_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.0145)|Epithelial(46;0.036)	Epithelial(152;0.138)	3	438	+		all_cancers(154;0.0351)|all_epithelial(191;0.153)|Melanoma(154;0.155)	88					A2VDJ9|G8JLK3|O60342|Q6P191|Q96FL7	Missense_Mutation	SNP	ENST00000325438.8	37	c.263T>C	CCDS32168.1	.	.	.	.	.	.	.	.	.	.	T	19.41	3.821819	0.71028	.	.	ENSG00000179364	ENST00000430725;ENST00000325438;ENST00000458164;ENST00000447393;ENST00000546915	T;T;T;T	0.26810	1.71;1.75;1.75;1.75	4.71	4.71	0.59529	.	0.000000	0.64402	U	0.000004	T	0.33498	0.0865	M	0.71581	2.175	0.58432	D	0.999998	B;B;P;P	0.44429	0.212;0.317;0.82;0.835	B;B;B;B	0.43889	0.059;0.086;0.278;0.435	T	0.20806	-1.0264	10	0.54805	T	0.06	-22.2742	13.1233	0.59340	0.0:0.0:0.0:1.0	.	88;88;88;97	E9PB38;Q86VP3-2;Q86VP3;Q86VP3-3	.;.;PACS2_HUMAN;.	A	21;88;88;88;21	ENSP00000393524:V21A;ENSP00000321834:V88A;ENSP00000399732:V88A;ENSP00000393559:V88A	ENSP00000321834:V88A	V	+	2	0	PACS2	104889815	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	4.681000	0.61663	1.970000	0.57323	0.459000	0.35465	GTG		0.567	PACS2-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000409209.1	XM_377355		23	93	0	0	0	1	0	23	93					C	105818770	T	C	105818770	3	2	289	1	0	0	0	0	1	0	0	0	11373	1696	59	4	273	4	PACS2	14	105818770	Missense_Mutation	SNP	T	TCGA-J9-A8CK-01A-11D-A34U-08		105818770	1530770	21	13932											
ADAM10	102	broad.mit.edu	37	chr15	58925526	58925526	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cttcttaccatctgaatagaGtttacttttttcacatattc	10	19	3	9	0	3	2	1	1	2	1	4	2	3	2	1	0	2	1	1	0	5	10			TCGA-J9-A8CK-01A-11D-A34U-08	TCGA-J9-A8CK-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc4c0fab-2cb2-4203-a0ed-c5fef2446f5e	aca8551c-6477-4cd2-a7d0-72b093c56a69	g.chr15:58925526G>A	ENST00000260408.3	-	9	1488	c.1045C>T	c.(1045-1047)Ctc>Ttc	p.L349F	ADAM10_ENST00000402627.1_Missense_Mutation_p.L48F|ADAM10_ENST00000396140.2_Missense_Mutation_p.L48F|ADAM10_ENST00000561288.1_Intron	NM_001110.2	NP_001101.1	O14672	ADA10_HUMAN	ADAM metallopeptidase domain 10	349	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				cell death (GO:0008219)|cell-cell signaling (GO:0007267)|collagen catabolic process (GO:0030574)|constitutive protein ectodomain proteolysis (GO:0051089)|epidermal growth factor receptor signaling pathway (GO:0007173)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|in utero embryonic development (GO:0001701)|integrin-mediated signaling pathway (GO:0007229)|membrane protein ectodomain proteolysis (GO:0006509)|monocyte activation (GO:0042117)|negative regulation of cell adhesion (GO:0007162)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|PMA-inducible membrane protein ectodomain proteolysis (GO:0051088)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of T cell chemotaxis (GO:0010820)|protein phosphorylation (GO:0006468)|response to tumor necrosis factor (GO:0034612)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|Golgi-associated vesicle (GO:0005798)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|tetraspanin-enriched microdomain (GO:0097197)	endopeptidase activity (GO:0004175)|integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|receptor binding (GO:0005102)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|kidney(5)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(3)	27				GBM - Glioblastoma multiforme(80;0.202)		TCTGAATAGAGTTTACTTTTT	0.368																																						ENST00000260408.3																			0				breast(1)|endometrium(1)|kidney(5)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(3)	27						c.(1045-1047)Ctc>Ttc		ADAM metallopeptidase domain 10							100	99	99					15																	58925526		2192	4292	6484	SO:0001583	missense	102				cell-cell signaling|constitutive protein ectodomain proteolysis|epidermal growth factor receptor signaling pathway|in utero embryonic development|integrin-mediated signaling pathway|monocyte activation|negative regulation of cell adhesion|Notch receptor processing|Notch signaling pathway|PMA-inducible membrane protein ectodomain proteolysis|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of T cell chemotaxis|protein phosphorylation|response to tumor necrosis factor	cell surface|endomembrane system|Golgi-associated vesicle|integral to membrane|nucleus|plasma membrane	integrin binding|metalloendopeptidase activity|protein homodimerization activity|protein kinase binding|SH3 domain binding|zinc ion binding	g.chr15:58925526G>A	AF009615	CCDS10167.1	15q2	2006-09-25	2005-08-18		ENSG00000137845	ENSG00000137845		"ADAM metallopeptidase domain containing", "CD molecules"	188	protein-coding gene	gene with protein product		602192	"a disintegrin and metalloproteinase domain 10"			9344679, 9441766	Standard	XM_005254117		Approved	kuz, MADM, HsT18717, CD156c	uc002afd.1	O14672	OTTHUMG00000132633	ENST00000260408.3:c.1045C>T	15.37:g.58925526G>A	ENSP00000260408:p.Leu349Phe					ADAM10_ENST00000396140.2_Missense_Mutation_p.L48F|ADAM10_ENST00000402627.1_Missense_Mutation_p.L48F|ADAM10_ENST00000561288.1_Intron	p.L349F	NM_001110.2	NP_001101.1	O14672	ADA10_HUMAN		GBM - Glioblastoma multiforme(80;0.202)	9	1488	-			349			Peptidase M12B.		B4DU28|Q10742|Q92650	Missense_Mutation	SNP	ENST00000260408.3	37	c.1045C>T	CCDS10167.1	.	.	.	.	.	.	.	.	.	.	G	13.59	2.282014	0.40394	.	.	ENSG00000137845	ENST00000260408;ENST00000402627;ENST00000396136;ENST00000396140	D;D;D	0.86164	-2.08;-2.08;-2.08	5.72	4.79	0.61399	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.063140	0.64402	D	0.000006	T	0.77246	0.4102	N	0.17474	0.49	0.47183	D	0.99934	B;B	0.26120	0.142;0.033	B;B	0.32090	0.14;0.091	T	0.69840	-0.5036	10	0.12766	T	0.61	-10.5736	11.8433	0.52368	0.1466:0.0:0.8534:0.0	.	48;349	B4DU28;O14672	.;ADA10_HUMAN	F	349;48;168;48	ENSP00000260408:L349F;ENSP00000386056:L48F;ENSP00000379444:L48F	ENSP00000260408:L349F	L	-	1	0	ADAM10	56712818	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.448000	0.60027	1.386000	0.46466	0.655000	0.94253	CTC		0.368	ADAM10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255880.2	NM_001110		17	46	0	0	0	1	0	17	46					A	58925526	G	A	58925526	3	1	289	1	0	0	0	0	1	0	0	0	234	1029	36	3	1233	3	ADAM10	15	58925526	Missense_Mutation	SNP	G	TCGA-J9-A8CK-01A-11D-A34U-08		58925526	43605866	22	13933											
TP53	7157	broad.mit.edu	37	chr17	7577102	7577102	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cctctgtgcgccggtctctcCcaggacaggcacaaacacgc	8	6	10	17	3	2	0	0	0	2	0	4	1	3	1	3	3	2	1	3	3	1	0			TCGA-J9-A8CK-01A-11D-A34U-08	TCGA-J9-A8CK-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc4c0fab-2cb2-4203-a0ed-c5fef2446f5e	aca8551c-6477-4cd2-a7d0-72b093c56a69	g.chr17:7577102C>T	ENST00000269305.4	-	8	1025	c.836G>A	c.(835-837)gGg>gAg	p.G279E	TP53_ENST00000420246.2_Missense_Mutation_p.G279E|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000359597.4_Missense_Mutation_p.G279E|TP53_ENST00000445888.2_Missense_Mutation_p.G279E|TP53_ENST00000455263.2_Missense_Mutation_p.G279E|TP53_ENST00000413465.2_Intron	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	279	Interaction with AXIN1. {ECO:0000250}.|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		G -> E (in sporadic cancers; somatic mutation).|G -> R (in sporadic cancers; somatic mutation).|G -> V (in sporadic cancers; somatic mutation).|G -> W (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.G279E(32)|p.0?(8)|p.G279V(4)|p.?(2)|p.G279fs*65(2)|p.A276_R283delACPGRDRR(1)|p.C275fs*20(1)|p.A276fs*64(1)|p.L265_K305del41(1)|p.G279_R280delGR(1)|p.F270_D281del12(1)|p.G279fs*59(1)|p.R280fs*62(1)|p.G279fs*26(1)|p.S269fs*21(1)|p.V272_K292del21(1)|p.C275_R283delCACPGRDRR(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	CCGGTCTCTCCCAGGACAGGC	0.547		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"Mis, N, F"	tumor protein p53			"L, E, M, O"		"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"	"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"		60	Substitution - Missense(36)|Deletion - Frameshift(8)|Whole gene deletion(8)|Deletion - In frame(6)|Unknown(2)	p.G279E(32)|p.0?(8)|p.G279V(4)|p.?(2)|p.G279fs*65(2)|p.A276_R283delACPGRDRR(1)|p.C275fs*20(1)|p.A276fs*64(1)|p.L265_K305del41(1)|p.G279_R280delGR(1)|p.F270_D281del12(1)|p.G279fs*59(1)|p.R280fs*62(1)|p.G279fs*26(1)|p.S269fs*21(1)|p.V272_K292del21(1)|p.C275_R283delCACPGRDRR(1)	upper_aerodigestive_tract(16)|urinary_tract(8)|oesophagus(7)|breast(5)|bone(5)|haematopoietic_and_lymphoid_tissue(4)|skin(4)|large_intestine(3)|central_nervous_system(3)|ovary(2)|stomach(1)|lung(1)|liver(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185						c.(835-837)gGg>gAg	Other conserved DNA damage response genes	tumor protein p53							75	65	68					17																	7577102		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577102C>T	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"Li-Fraumeni syndrome"	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.836G>A	17.37:g.7577102C>T	ENSP00000269305:p.Gly279Glu	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_ENST00000445888.2_Missense_Mutation_p.G279E|TP53_ENST00000413465.2_Intron|TP53_ENST00000359597.4_Missense_Mutation_p.G279E|TP53_ENST00000269305.4_Missense_Mutation_p.G279E|TP53_ENST00000455263.2_Missense_Mutation_p.G279E	p.G279E	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	8	968	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	279		G -> E (in sporadic cancers; somatic mutation).|G -> R (in sporadic cancers; somatic mutation).|G -> V (in sporadic cancers; somatic mutation).|G -> W (in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.836G>A	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	26.6	4.753775	0.89753	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99898	-7.61;-7.61;-7.61;-7.61;-7.61;-7.61	5.13	4.16	0.48862	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99883	0.9944	M	0.90425	3.115	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;1.0;1.0	D;D;D;D	0.97110	0.999;0.991;0.999;1.0	D	0.96457	0.9338	10	0.87932	D	0	-22.6503	11.5187	0.50539	0.0:0.9131:0.0:0.0869	.	279;279;279;279	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	E	279;279;279;279;279;268;147	ENSP00000352610:G279E;ENSP00000269305:G279E;ENSP00000398846:G279E;ENSP00000391127:G279E;ENSP00000391478:G279E;ENSP00000425104:G147E	ENSP00000269305:G279E	G	-	2	0	TP53	7517827	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	5.862000	0.69560	1.390000	0.46547	0.462000	0.41574	GGG		0.547	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		7	7	0	0	0	1	0	7	7					T	7577102	C	T	7577102	3	4	289	1	0	0	0	0	1	0	0	0	16378	623	22	3	450	3	TP53	17	7577102	Missense_Mutation	SNP	C	TCGA-J9-A8CK-01A-11D-A34U-08		7577102	73618108	23	13934											
MUC16	94025	broad.mit.edu	37	chr19	9049442	9049442	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccagatcttctgcaccaggtGagacagtcataattggaata	13	10	9	9	0	3	2	1	1	2	2	3	4	3	3	2	2	1	1	2	2	3	4			TCGA-J9-A8CK-01A-11D-A34U-08	TCGA-J9-A8CK-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc4c0fab-2cb2-4203-a0ed-c5fef2446f5e	aca8551c-6477-4cd2-a7d0-72b093c56a69	g.chr19:9049442G>A	ENST00000397910.4	-	5	32392	c.32189C>T	c.(32188-32190)tCa>tTa	p.S10730L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	10732	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TGCACCAGGTGAGACAGTCAT	0.453																																						ENST00000397910.4																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(32188-32190)tCa>tTa		mucin 16, cell surface associated							228	202	210					19																	9049442		1914	4135	6049	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9049442G>A	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.32189C>T	19.37:g.9049442G>A	ENSP00000381008:p.Ser10730Leu						p.S10730L	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			5	32392	-			10732			Thr-rich.		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.32189C>T	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	g	7.558	0.664211	0.14710	.	.	ENSG00000181143	ENST00000397910	T	0.02656	4.21	3.03	-0.58	0.11717	.	.	.	.	.	T	0.02047	0.0064	N	0.20986	0.625	.	.	.	B	0.27229	0.172	B	0.26614	0.071	T	0.43556	-0.9384	8	0.87932	D	0	.	2.775	0.05345	0.2618:0.0:0.5175:0.2206	.	10730	B5ME49	.	L	10730	ENSP00000381008:S10730L	ENSP00000381008:S10730L	S	-	2	0	MUC16	8910442	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.114000	0.10757	-0.017000	0.14103	0.479000	0.44913	TCA		0.453	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		58	157	0	0	0	1	0	58	157					A	9049442	G	A	9049442	3	1	289	1	0	0	0	0	1	0	0	0	9973	1294	45	3	11654	3	MUC16	19	9049442	Missense_Mutation	SNP	G	TCGA-J9-A8CK-01A-11D-A34U-08		9049442	50079541	24	13935											
SLC38A5	92745	broad.mit.edu	37	chrX	48317961	48317961	+	Frame_Shift_Del	DEL	G	G	-																															aagaaaggctccacctcagaGggtacaatgcggaggtagaa																										TCGA-J9-A8CK-01A-11D-A34U-08	TCGA-J9-A8CK-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc4c0fab-2cb2-4203-a0ed-c5fef2446f5e	aca8551c-6477-4cd2-a7d0-72b093c56a69	g.chrX:48317961delG	ENST00000376876.3	-	15	2121	c.1278delC	c.(1276-1278)cccfs	p.P426fs	SLC38A5_ENST00000376875.1_Frame_Shift_Del_p.P375fs|SLC38A5_ENST00000317669.5_Frame_Shift_Del_p.P426fs|SLC38A5_ENST00000480105.1_5'UTR			Q8WUX1	S38A5_HUMAN	solute carrier family 38, member 5	426					amino acid transport (GO:0006865)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	glycine transmembrane transporter activity (GO:0015187)			breast(1)|cervix(1)|endometrium(6)|large_intestine(2)|lung(5)|ovary(3)|skin(1)	19						CCACCTCAGAGGGTACAATGC	0.567																																						ENST00000376876.3																			0				breast(1)|cervix(1)|endometrium(6)|large_intestine(2)|lung(5)|ovary(3)|skin(1)	19						c.(1276-1278)ccfs		solute carrier family 38, member 5							61	51	54					X																	48317961		2202	4300	6502	SO:0001589	frameshift_variant	92745				cellular nitrogen compound metabolic process|ion transport	integral to membrane|plasma membrane		g.chrX:48317961delG	AF276889	CCDS14293.1	Xp11.23	2013-05-22			ENSG00000017483	ENSG00000017483		"Solute carriers"	18070	protein-coding gene	gene with protein product		300649				11243884	Standard	NM_033518		Approved	SN2, JM24	uc010nid.3	Q8WUX1	OTTHUMG00000024117	ENST00000376876.3:c.1278delC	X.37:g.48317961delG	ENSP00000366073:p.Pro426fs					SLC38A5_ENST00000480105.1_5'UTR|SLC38A5_ENST00000376875.1_Frame_Shift_Del_p.P375fs|SLC38A5_ENST00000317669.5_Frame_Shift_Del_p.P426fs	p.P426fs			Q8WUX1	S38A5_HUMAN			15	2121	-			426					B3KT20|B5MDE6|B7WPJ9|Q6PIW9|Q8WYU2|Q96PQ4	Frame_Shift_Del	DEL	ENST00000376876.3	37	c.1278delC	CCDS14293.1																																																																																				0.567	SLC38A5-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060724.1	NM_033518		2	4						2	4	---	---	---	---	-	48317961	G	-	48317961	7	5	289	1	0	1	0	1	0	0	0	0	14607	987	35	0	148	0	SLC38A5	23	48317961	Frame_Shift_Del	DEL	G	TCGA-J9-A8CK-01A-11D-A34U-08		48317961	106952599	25	13936											
CLCN5	1184	broad.mit.edu	37	chrX	49689925	49689925	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	caagatggccatgtggcaggGtaagaaattagcacttattc	13	10	11	7	0	0	2	0	0	0	2	1	2	0	2	1	3	1	3	1	3	5	4			TCGA-J9-A8CK-01A-11D-A34U-08	TCGA-J9-A8CK-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc4c0fab-2cb2-4203-a0ed-c5fef2446f5e	aca8551c-6477-4cd2-a7d0-72b093c56a69	g.chrX:49689925G>T	ENST00000376088.3	+	3	657		c.e3+1		CLCN5_ENST00000482218.2_Splice_Site|CLCN5_ENST00000376091.3_Splice_Site	NM_001127898.1|NM_001127899.1	NP_001121370.1|NP_001121371.1	P51795	CLCN5_HUMAN	chloride channel, voltage-sensitive 5						chloride transmembrane transport (GO:1902476)|endocytosis (GO:0006897)|excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical part of cell (GO:0045177)|endosome membrane (GO:0010008)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	antiporter activity (GO:0015297)|ATP binding (GO:0005524)|chloride channel activity (GO:0005254)|voltage-gated chloride channel activity (GO:0005247)			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(8)|ovary(2)|skin(1)	30	Ovarian(276;0.236)					ATGTGGCAGGGTAAGAAATTA	0.507																																						ENST00000376088.3																			0				central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(8)|ovary(2)|skin(1)	30						c.e3+1		chloride channel, voltage-sensitive 5							191	175	180					X																	49689925		1568	3582	5150	SO:0001630	splice_region_variant	1184				excretion	apical part of cell|endosome membrane|Golgi membrane|integral to plasma membrane	antiporter activity|ATP binding	g.chrX:49689925G>T	X91906	CCDS14328.1, CCDS48115.1, CCDS69763.1	Xp11.23-p11.22	2012-09-26	2012-02-23		ENSG00000171365	ENSG00000171365		"Ion channels / Chloride channels : Voltage-sensitive"	2023	protein-coding gene	gene with protein product	"Dent disease"	300008	"nephrolithiasis 2, X-linked", "nephrolithiasis 1 (X-linked)", "chloride channel 5"	NPHL2, NPHL1		7874126, 8111383, 8099916, 8559248, 9602200	Standard	NM_001272102		Approved	DENTS, XLRH, hClC-K2, hCIC-K2, CLC5, XRN, ClC-5	uc004doq.1	P51795	OTTHUMG00000021514	ENST00000376088.3:c.16+1G>T	X.37:g.49689925G>T						CLCN5_ENST00000482218.1_Splice_Site|CLCN5_ENST00000376091.3_Splice_Site		NM_001127898.1|NM_001127899.1	NP_001121370.1|NP_001121371.1	P51795	CLCN5_HUMAN			3	657	+	Ovarian(276;0.236)							A1L475|B3KPN6|Q5JQD5|Q7RTN8	Splice_Site	SNP	ENST00000376088.3	37		CCDS48115.1	.	.	.	.	.	.	.	.	.	.	G	15.33	2.802220	0.50315	.	.	ENSG00000171365	ENST00000376088;ENST00000376091	.	.	.	3.9	3.03	0.35002	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.9295	0.29893	0.0:0.0:0.7562:0.2438	.	.	.	.	.	-1	.	.	.	+	.	.	CLCN5	49576665	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.969000	0.56816	0.995000	0.38917	0.600000	0.82982	.		0.507	CLCN5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000056542.2		Intron	19	25	1	0	1.64113e-05	1	1.69407e-05	19	25					T	49689925	G	T	49689925	5	4	289	1	0	0	0	0	0	0	1	0	3466	1275	44	5	19	5	CLCN5	23	49689925	Splice_Site	SNP	G	TCGA-J9-A8CK-01A-11D-A34U-08	1371964	49689925	105580635	26	13937											
SPANXN1	494118	broad.mit.edu	37	chrX	144337277	144337277	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tattcaacagtattagcgttTtgctacaggaaagctaagaa	15	12	8	6	1	1	1	1	0	0	1	1	2	1	2	0	1	5	4	0	1	8	8			TCGA-J9-A8CK-01A-11D-A34U-08	TCGA-J9-A8CK-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc4c0fab-2cb2-4203-a0ed-c5fef2446f5e	aca8551c-6477-4cd2-a7d0-72b093c56a69	g.chrX:144337277T>C	ENST00000370493.3	+	2	921	c.162T>C	c.(160-162)ttT>ttC	p.F54F		NM_001009614.2	NP_001009614.1	Q5VSR9	SPXN1_HUMAN	SPANX family, member N1	54										endometrium(2)|kidney(2)|lung(8)|prostate(1)|urinary_tract(1)	14	Acute lymphoblastic leukemia(192;6.56e-05)					TATTAGCGTTTTGCTACAGGA	0.433																																						ENST00000370493.3																			0				endometrium(2)|kidney(2)|lung(8)|prostate(1)|urinary_tract(1)	14						c.(160-162)ttT>ttC		SPANX family, member N1							181	156	164					X																	144337277		2203	4297	6500	SO:0001819	synonymous_variant	494118							g.chrX:144337277T>C		CCDS35421.1	Xq27.3	2009-03-25				ENSG00000203923			33174	protein-coding gene	gene with protein product	"cancer/testis antigen family 11, member 6"	300664				14973187, 17012309	Standard	NM_001009614		Approved	SPANX-N1, CT11.6	uc004fcb.2	Q5VSR9		ENST00000370493.3:c.162T>C	X.37:g.144337277T>C							p.F54F	NM_001009614.2	NP_001009614.1	Q5VSR9	SPXN1_HUMAN			2	921	+	Acute lymphoblastic leukemia(192;6.56e-05)		54						Silent	SNP	ENST00000370493.3	37	c.162T>C	CCDS35421.1																																																																																				0.433	SPANXN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058631.2	NM_001009614		3	56	0	0	0	1	0	3	56					C	144337277	T	C	144337277	2	2	289	1	0	0	0	0	0	0	0	1	14990	1838	64	4		4	SPANXN1	23	144337277	Silent	SNP	T	TCGA-J9-A8CK-01A-11D-A34U-08	94647352	144337277	10933283	27	13938											
VAV3	10451	broad.mit.edu	37	chr1	108231002	108231002	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tatttaaaatgttaatcttaCctctggtagtttgagtgtcc	10	18	7	6	0	2	1	0	1	2	0	3	1	3	1	2	1	1	3	2	1	6	7			TCGA-J9-A8CL-01A-11D-A34U-08	TCGA-J9-A8CL-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1f9f2e-7a09-4e2d-bb99-c881a34a8da2	e5a23b9d-18a0-4cb4-8743-3d53fc3c45b4	g.chr1:108231002C>T	ENST00000370056.4	-	18	2006		c.e18+1		VAV3_ENST00000527011.1_Splice_Site|VAV3_ENST00000343258.4_Splice_Site|VAV3_ENST00000415432.2_Splice_Site|VAV3_ENST00000371846.4_Splice_Site|VAV3_ENST00000544443.1_Splice_Site	NM_006113.4	NP_006104.4	Q9UKW4	VAV3_HUMAN	vav 3 guanine nucleotide exchange factor						angiogenesis (GO:0001525)|apoptotic signaling pathway (GO:0097190)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|cellular response to DNA damage stimulus (GO:0006974)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|lamellipodium assembly (GO:0030032)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil chemotaxis (GO:0030593)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cell adhesion (GO:0045785)|positive regulation of GTPase activity (GO:0043547)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of signal transduction (GO:0009967)|regulation of Rac GTPase activity (GO:0032314)|regulation of small GTPase mediated signal transduction (GO:0051056)|response to drug (GO:0042493)|small GTPase mediated signal transduction (GO:0007264)|vesicle fusion (GO:0006906)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|SH3/SH2 adaptor activity (GO:0005070)			NS(2)|breast(5)|endometrium(4)|kidney(2)|large_intestine(14)|lung(20)|ovary(6)|prostate(3)|stomach(1)|urinary_tract(1)	58		all_epithelial(167;5.38e-05)|all_lung(203;0.000314)|Lung NSC(277;0.000594)		Colorectal(144;0.0331)|Lung(183;0.128)|Epithelial(280;0.204)		GTTAATCTTACCTCTGGTAGT	0.328																																						ENST00000370056.4																			0				NS(2)|breast(5)|endometrium(4)|kidney(2)|large_intestine(14)|lung(20)|ovary(6)|prostate(3)|stomach(1)|urinary_tract(1)	58						c.e18+1		vav 3 guanine nucleotide exchange factor							123	116	118					1																	108231002		2202	4298	6500	SO:0001630	splice_region_variant	10451				angiogenesis|apoptosis|B cell receptor signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of B cell proliferation|regulation of Rho protein signal transduction|response to DNA damage stimulus|response to drug|small GTPase mediated signal transduction	cytosol	GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity	g.chr1:108231002C>T	AF118886	CCDS785.1, CCDS44181.1	1p13.3	2013-02-14	2007-07-25		ENSG00000134215	ENSG00000134215		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing", "SH2 domain containing"	12659	protein-coding gene	gene with protein product		605541	"vav 3 oncogene"				Standard	NM_001079874		Approved		uc001dvk.1	Q9UKW4	OTTHUMG00000010995	ENST00000370056.4:c.1731+1G>A	1.37:g.108231002C>T						VAV3_ENST00000544443.1_Splice_Site|VAV3_ENST00000527011.1_Splice_Site|VAV3_ENST00000343258.4_Splice_Site|VAV3_ENST00000415432.2_Splice_Site|VAV3_ENST00000371846.4_Splice_Site		NM_006113.4	NP_006104.4	Q9UKW4	VAV3_HUMAN		Colorectal(144;0.0331)|Lung(183;0.128)|Epithelial(280;0.204)	18	2006	-		all_epithelial(167;5.38e-05)|all_lung(203;0.000314)|Lung NSC(277;0.000594)						B1AMM0|B1APV5|B4E232|B7ZLR1|E9PQ97|O60498|O95230|Q9Y5X8	Splice_Site	SNP	ENST00000370056.4	37		CCDS785.1	.	.	.	.	.	.	.	.	.	.	C	14.71	2.616187	0.46631	.	.	ENSG00000134215	ENST00000370056;ENST00000527011;ENST00000415432;ENST00000490388;ENST00000371846	.	.	.	5.83	5.83	0.93111	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.8525	0.85998	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	VAV3	108032525	1.000000	0.71417	1.000000	0.80357	0.611000	0.37282	4.412000	0.59787	2.747000	0.94245	0.585000	0.79938	.		0.328	VAV3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030242.2	NM_006113	Intron	14	28	0	0	0	1	0	14	28					T	108231002	C	T	108231002	5	4	290	1	0	0	0	0	0	0	1	0	17130	521	18	3	851	3	VAV3	1	108231002	Splice_Site	SNP	C	TCGA-J9-A8CL-01A-11D-A34U-08		108231002	141019619	1	13939											
CA14	23632	broad.mit.edu	37	chr1	150234607	150234607	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgggtggacttccccgaaaaTatgtagctgcccagctccac	9	9	10	13	1	0	0	0	0	0	0	2	2	2	1	4	2	3	3	4	2	4	3			TCGA-J9-A8CL-01A-11D-A34U-08	TCGA-J9-A8CL-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1f9f2e-7a09-4e2d-bb99-c881a34a8da2	e5a23b9d-18a0-4cb4-8743-3d53fc3c45b4	g.chr1:150234607T>A	ENST00000369111.4	+	4	1277	c.307T>A	c.(307-309)Tat>Aat	p.Y103N	snoU13_ENST00000458929.1_RNA	NM_012113.1	NP_036245.1	Q9ULX7	CAH14_HUMAN	carbonic anhydrase XIV	103					bicarbonate transport (GO:0015701)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbonate dehydratase activity (GO:0004089)|metal ion binding (GO:0046872)			central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(2)|prostate(2)	18	Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)		Acetazolamide(DB00819)|Zonisamide(DB00909)	TCCCCGAAAATATGTAGCTGC	0.537																																						ENST00000369111.4																			0				central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(2)|prostate(2)	18						c.(307-309)Tat>Aat		carbonic anhydrase XIV							112	102	105					1																	150234607		2203	4300	6503	SO:0001583	missense	23632					integral to membrane	carbonate dehydratase activity|metal ion binding	g.chr1:150234607T>A	AB025904	CCDS947.1	1q21	2008-02-05			ENSG00000118298	ENSG00000118298		"Carbonic anhydrases"	1372	protein-coding gene	gene with protein product		604832				10512682	Standard	XM_005245059		Approved		uc001etx.3	Q9ULX7	OTTHUMG00000012549	ENST00000369111.4:c.307T>A	1.37:g.150234607T>A	ENSP00000358107:p.Tyr103Asn						p.Y103N	NM_012113.1	NP_036245.1	Q9ULX7	CAH14_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		4	1277	+	Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		103					Q5TB24|Q8NCF4	Missense_Mutation	SNP	ENST00000369111.4	37	c.307T>A	CCDS947.1	.	.	.	.	.	.	.	.	.	.	T	21.4	4.146318	0.77888	.	.	ENSG00000118298	ENST00000369111	T	0.75821	-0.97	5.05	5.05	0.67936	Carbonic anhydrase, alpha-class, catalytic domain (4);	0.118890	0.64402	D	0.000019	D	0.88840	0.6546	H	0.97158	3.95	0.45150	D	0.998166	D	0.89917	1.0	D	0.97110	1.0	D	0.92052	0.5649	10	0.87932	D	0	.	12.7878	0.57516	0.0:0.0:0.0:1.0	.	103	Q9ULX7	CAH14_HUMAN	N	103	ENSP00000358107:Y103N	ENSP00000358107:Y103N	Y	+	1	0	CA14	148501231	0.999000	0.42202	0.834000	0.33040	0.781000	0.44180	7.112000	0.77086	2.135000	0.66039	0.379000	0.24179	TAT		0.537	CA14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000035064.2	NM_012113		5	96	0	0	0	1	0	5	96					A	150234607	T	A	150234607	3	1	290	1	0	0	0	0	1	0	0	0	2515	1406	49	5	321	5	CA14	1	150234607	Missense_Mutation	SNP	T	TCGA-J9-A8CL-01A-11D-A34U-08	42003605	150234607	99016014	2	13940											
PSMB4	5692	broad.mit.edu	37	chr1	151372581	151372581	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcaacatctctcgcattatgCgagtcaacaacagtaccatg	13	9	7	12	2	2	0	1	0	1	0	4	1	2	0	1	0	5	3	1	0	5	2			TCGA-J9-A8CL-01A-11D-A34U-08	TCGA-J9-A8CL-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1f9f2e-7a09-4e2d-bb99-c881a34a8da2	e5a23b9d-18a0-4cb4-8743-3d53fc3c45b4	g.chr1:151372581C>T	ENST00000290541.6	+	2	319	c.265C>T	c.(265-267)Cga>Tga	p.R89*		NM_002796.2	NP_002787.2	P28070	PSB4_HUMAN	proteasome (prosome, macropain) subunit, beta type, 4	89					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of inflammatory response to antigenic stimulus (GO:0002862)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome complex (GO:0000502)|proteasome core complex (GO:0005839)	lipopolysaccharide binding (GO:0001530)|threonine-type endopeptidase activity (GO:0004298)			endometrium(1)|lung(9)|ovary(2)|prostate(1)|skin(1)	14	Lung SC(34;0.00471)|Ovarian(49;0.00871)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			TCGCATTATGCGAGTCAACAA	0.537																																						ENST00000290541.6																			0				endometrium(1)|lung(9)|ovary(2)|prostate(1)|skin(1)	14						c.(265-267)Cga>Tga		proteasome (prosome, macropain) subunit, beta type, 4							168	169	168					1																	151372581		2203	4300	6503	SO:0001587	stop_gained	5692				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome core complex	threonine-type endopeptidase activity	g.chr1:151372581C>T	D26600	CCDS996.1	1q21	2008-02-05			ENSG00000159377	ENSG00000159377		"Proteasome (prosome, macropain) subunits"	9541	protein-coding gene	gene with protein product		602177				7918633	Standard	NM_002796		Approved	HN3, PROS26	uc001eyc.1	P28070	OTTHUMG00000012494	ENST00000290541.6:c.265C>T	1.37:g.151372581C>T	ENSP00000290541:p.Arg89*						p.R89*	NM_002796.2	NP_002787.2	P28070	PSB4_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)		2	319	+	Lung SC(34;0.00471)|Ovarian(49;0.00871)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		89					B2R9L3|P31148|Q5SZS5|Q6IBI4|Q969L6	Nonsense_Mutation	SNP	ENST00000290541.6	37	c.265C>T	CCDS996.1	.	.	.	.	.	.	.	.	.	.	C	23.8	4.459609	0.84317	.	.	ENSG00000159377	ENST00000290541	.	.	.	5.34	2.32	0.28847	.	0.261003	0.36703	N	0.002445	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.24483	T	0.36	-0.0211	13.7733	0.63038	0.6506:0.3494:0.0:0.0	.	.	.	.	X	89	.	ENSP00000290541:R89X	R	+	1	2	PSMB4	149639205	0.998000	0.40836	0.954000	0.39281	0.610000	0.37248	0.845000	0.27668	0.197000	0.20387	-0.314000	0.08810	CGA		0.537	PSMB4-001	KNOWN	mRNA_start_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034885.1	NM_002796		4	188	0	0	0	1	0	4	188					T	151372581	C	T	151372581	4	4	290	1	0	0	0	0	0	1	0	0	12679	760	27	1	271	1	PSMB4	1	151372581	Nonsense_Mutation	SNP	C	TCGA-J9-A8CL-01A-11D-A34U-08	1137974	151372581	97878040	3	13941											
CD1C	911	broad.mit.edu	37	chr1	158262542	158262542	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	taaacatggtgatattcttcCtaatgctgatgggacatggt	11	14	10	6	0	1	2	0	2	1	0	2	3	2	3	1	3	2	1	1	3	4	5			TCGA-J9-A8CL-01A-11D-A34U-08	TCGA-J9-A8CL-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1f9f2e-7a09-4e2d-bb99-c881a34a8da2	e5a23b9d-18a0-4cb4-8743-3d53fc3c45b4	g.chr1:158262542C>T	ENST00000368170.3	+	4	1046	c.767C>T	c.(766-768)cCt>cTt	p.P256L		NM_001765.2	NP_001756.2	P29017	CD1C_HUMAN	CD1c molecule	256	Ig-like.				antigen processing and presentation (GO:0019882)|T cell activation involved in immune response (GO:0002286)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	endogenous lipid antigen binding (GO:0030883)|exogenous lipid antigen binding (GO:0030884)|glycolipid binding (GO:0051861)|lipopeptide binding (GO:0071723)			NS(1)|endometrium(3)|large_intestine(4)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	39	all_hematologic(112;0.0378)					GATATTCTTCCTAATGCTGAT	0.527																																						ENST00000368170.3																			0				NS(1)|endometrium(3)|large_intestine(4)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	39						c.(766-768)cCt>cTt		CD1c molecule							139	136	137					1																	158262542		2203	4300	6503	SO:0001583	missense	911				antigen processing and presentation|T cell activation involved in immune response	endosome membrane|integral to plasma membrane	endogenous lipid antigen binding|exogenous lipid antigen binding|glycolipid binding|lipopeptide binding	g.chr1:158262542C>T	M28827	CCDS1175.1	1q23.1	2014-01-14	2006-03-28		ENSG00000158481	ENSG00000158481		"CD molecules", "Immunoglobulin superfamily / C1-set domain containing"	1636	protein-coding gene	gene with protein product		188340	"CD1C antigen, c polypeptide", "CD1c antigen"	CD1		2447586	Standard	NM_001765		Approved		uc001fru.3	P29017	OTTHUMG00000017514	ENST00000368170.3:c.767C>T	1.37:g.158262542C>T	ENSP00000357152:p.Pro256Leu						p.P256L	NM_001765.2	NP_001756.2	P29017	CD1C_HUMAN			4	1046	+	all_hematologic(112;0.0378)		256			Ig-like.		Q5TDJ7|Q6IAS4|Q9UMM0|Q9UN96	Missense_Mutation	SNP	ENST00000368170.3	37	c.767C>T	CCDS1175.1	.	.	.	.	.	.	.	.	.	.	-	15.08	2.727617	0.48833	.	.	ENSG00000158481	ENST00000368169;ENST00000368170;ENST00000454192	T	0.17528	2.27	3.62	3.62	0.41486	Immunoglobulin-like (1);MHC class I-like antigen recognition (1);Immunoglobulin C1-set (2);	0.201103	0.25073	N	0.033342	T	0.40956	0.1138	H	0.95151	3.63	0.09310	N	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.985;0.996	T	0.37888	-0.9686	10	0.87932	D	0	.	11.0251	0.47741	0.0:1.0:0.0:0.0	.	256;256	E9PGC9;P29017	.;CD1C_HUMAN	L	256;256;59	ENSP00000357152:P256L	ENSP00000357151:P256L	P	+	2	0	CD1C	156529166	0.014000	0.17966	0.011000	0.14972	0.027000	0.11550	1.827000	0.39102	2.030000	0.59900	0.650000	0.86243	CCT		0.527	CD1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046351.2	NM_001765		25	57	0	0	0	1	0	25	57					T	158262542	C	T	158262542	3	4	290	1	0	0	0	0	1	0	0	0	2976	681	24	3	781	3	CD1C	1	158262542	Missense_Mutation	SNP	C	TCGA-J9-A8CL-01A-11D-A34U-08	6889961	158262542	90988079	4	13942											
IFI16	3428	broad.mit.edu	37	chr1	158988127	158988127	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caaagccatttgaatatgagAccccagaaatggagaaaaaa	20	6	8	7	0	0	4	0	2	0	3	0	6	0	4	3	1	1	0	3	1	7	2			TCGA-J9-A8CL-01A-11D-A34U-08	TCGA-J9-A8CL-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1f9f2e-7a09-4e2d-bb99-c881a34a8da2	e5a23b9d-18a0-4cb4-8743-3d53fc3c45b4	g.chr1:158988127A>G	ENST00000295809.7	+	5	913	c.658A>G	c.(658-660)Acc>Gcc	p.T220A	IFI16_ENST00000368131.4_Missense_Mutation_p.T220A|IFI16_ENST00000359709.3_Missense_Mutation_p.T164A|IFI16_ENST00000340979.6_Missense_Mutation_p.T220A|IFI16_ENST00000448393.2_Missense_Mutation_p.T220A|IFI16_ENST00000368132.3_Missense_Mutation_p.T220A|IFI16_ENST00000430894.2_Missense_Mutation_p.T168A			Q16666	IF16_HUMAN	interferon, gamma-inducible protein 16	220	HIN-200 1. {ECO:0000255|PROSITE- ProRule:PRU00106}.|Interaction with TP53 C-terminus.				activation of cysteine-type endopeptidase activity (GO:0097202)|activation of innate immune response (GO:0002218)|autophagy (GO:0006914)|cell proliferation (GO:0008283)|cellular response to glucose starvation (GO:0042149)|cellular response to ionizing radiation (GO:0071479)|defense response to virus (GO:0051607)|hemopoiesis (GO:0030097)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|monocyte differentiation (GO:0030224)|myeloid cell differentiation (GO:0030099)|negative regulation of cysteine-type endopeptidase activity (GO:2000117)|negative regulation of DNA binding (GO:0043392)|negative regulation of innate immune response (GO:0045824)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of viral genome replication (GO:0045071)|positive regulation of cytokine production (GO:0001819)|positive regulation of interleukin-1 beta production (GO:0032731)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of autophagy (GO:0010506)|regulation of gene expression, epigenetic (GO:0040029)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	core promoter binding (GO:0001047)|double-stranded DNA binding (GO:0003690)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|transcription factor binding (GO:0008134)			cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_hematologic(112;0.0429)					TGAATATGAGACCCCAGAAAT	0.403																																						ENST00000295809.7																			0				cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(658-660)Acc>Gcc		interferon, gamma-inducible protein 16							90	88	89					1																	158988127		2203	4300	6503	SO:0001583	missense	3428				cell proliferation|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|monocyte differentiation|negative regulation of transcription, DNA-dependent|response to virus|transcription, DNA-dependent	cytoplasm|nuclear speck|nucleolus	double-stranded DNA binding|protein binding	g.chr1:158988127A>G	M63838	CCDS1180.3, CCDS58039.1	1q22	2008-02-05			ENSG00000163565	ENSG00000163565			5395	protein-coding gene	gene with protein product		147586				1526658, 7959953	Standard	NM_005531		Approved	IFNGIP1, PYHIN2	uc010pis.2	Q16666	OTTHUMG00000037108	ENST00000295809.7:c.658A>G	1.37:g.158988127A>G	ENSP00000295809:p.Thr220Ala					IFI16_ENST00000368131.4_Missense_Mutation_p.T220A|IFI16_ENST00000359709.3_Missense_Mutation_p.T164A|IFI16_ENST00000340979.6_Missense_Mutation_p.T220A|IFI16_ENST00000368132.3_Missense_Mutation_p.T220A|IFI16_ENST00000430894.2_Missense_Mutation_p.T168A|IFI16_ENST00000448393.2_Missense_Mutation_p.T220A	p.T220A			Q16666	IF16_HUMAN			5	913	+	all_hematologic(112;0.0429)		220			HIN-200 1.		B4DJT8|H3BLV7|Q59GX0|Q5T3W7|Q5T3W8|Q5T3X0|Q5T3X1|Q5T3X2|Q8N9E5|Q8NEQ7|Q96AJ5|Q9UH78	Missense_Mutation	SNP	ENST00000295809.7	37	c.658A>G		.	.	.	.	.	.	.	.	.	.	.	9.044	0.990424	0.18966	.	.	ENSG00000163565	ENST00000359709;ENST00000295809;ENST00000340979;ENST00000368131;ENST00000368132;ENST00000430894	T;T;T;T;T	0.13901	2.55;2.55;2.55;2.55;2.55	2.91	-1.92	0.07618	HIN-200/IF120x (2);Nucleic acid-binding, OB-fold (1);	.	.	.	.	T	0.04003	0.0112	L	0.47190	1.495	0.09310	N	1	B;B;B	0.15473	0.013;0.011;0.013	B;B;B	0.21151	0.033;0.019;0.033	T	0.44937	-0.9295	9	0.56958	D	0.05	.	6.4438	0.21865	0.6618:0.0:0.0:0.3382	.	168;220;220	E7EPR3;Q16666-2;Q16666	.;.;IF16_HUMAN	A	220;220;220;220;220;168	ENSP00000295809:T220A;ENSP00000342741:T220A;ENSP00000357113:T220A;ENSP00000357114:T220A;ENSP00000394935:T168A	ENSP00000295809:T220A	T	+	1	0	IFI16	157254751	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.594000	0.05733	-0.094000	0.12374	-0.527000	0.04329	ACC		0.403	IFI16-013	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000421720.1	NM_005531		28	29	0	0	0	1	0	28	29					G	158988127	A	G	158988127	3	3	290	1	0	0	0	0	1	0	0	0	7511	275	10	4	672	4	IFI16	1	158988127	Missense_Mutation	SNP	A	TCGA-J9-A8CL-01A-11D-A34U-08	725585	158988127	90262494	5	13943											
OR10J3	441911	broad.mit.edu	37	chr1	159284004	159284004	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgccaaggccaatccccagtGatccagaggccagttggata	11	7	11	12	0	0	2	0	1	0	1	2	3	2	3	6	3	1	1	6	3	3	2			TCGA-J9-A8CL-01A-11D-A34U-08	TCGA-J9-A8CL-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1f9f2e-7a09-4e2d-bb99-c881a34a8da2	e5a23b9d-18a0-4cb4-8743-3d53fc3c45b4	g.chr1:159284004G>A	ENST00000332217.5	-	1	445	c.446C>T	c.(445-447)tCa>tTa	p.S149L		NM_001004467.1	NP_001004467.1	Q5JRS4	O10J3_HUMAN	olfactory receptor, family 10, subfamily J, member 3	149						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(19)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	47	all_hematologic(112;0.0429)					AATCCCCAGTGATCCAGAGGC	0.512																																						ENST00000332217.5																			0				breast(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(19)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	47						c.(445-447)tCa>tTa		olfactory receptor, family 10, subfamily J, member 3							69	63	65					1																	159284004		2203	4300	6503	SO:0001583	missense	441911				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:159284004G>A		CCDS30909.1	1q23.2	2012-08-09		2004-03-10	ENSG00000196266	ENSG00000196266		"GPCR / Class A : Olfactory receptors"	14992	protein-coding gene	gene with protein product				OR10J3P			Standard	NM_001004467		Approved		uc010piu.2	Q5JRS4	OTTHUMG00000037233	ENST00000332217.5:c.446C>T	1.37:g.159284004G>A	ENSP00000331789:p.Ser149Leu						p.S149L	NM_001004467.1	NP_001004467.1	Q5JRS4	O10J3_HUMAN			1	445	-	all_hematologic(112;0.0429)		149						Missense_Mutation	SNP	ENST00000332217.5	37	c.446C>T	CCDS30909.1	.	.	.	.	.	.	.	.	.	.	G	15.18	2.755634	0.49362	.	.	ENSG00000196266	ENST00000332217	T	0.37752	1.18	5.03	4.09	0.47781	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.45175	0.1329	M	0.80982	2.52	0.31061	N	0.714109	P	0.43701	0.815	P	0.56127	0.792	T	0.48559	-0.9025	9	0.72032	D	0.01	.	12.9828	0.58575	0.0:0.1637:0.8363:0.0	.	149	Q5JRS4	O10J3_HUMAN	L	149	ENSP00000331789:S149L	ENSP00000331789:S149L	S	-	2	0	OR10J3	157550628	0.050000	0.20438	0.198000	0.23420	0.284000	0.27059	1.503000	0.35715	1.265000	0.44215	0.561000	0.74099	TCA		0.512	OR10J3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090629.1			7	50	0	0	0	1	0	7	50					A	159284004	G	A	159284004	3	1	290	1	0	0	0	0	1	0	0	0	10911	1294	45	3	545	3	OR10J3	1	159284004	Missense_Mutation	SNP	G	TCGA-J9-A8CL-01A-11D-A34U-08	295877	159284004	89966617	6	13944											
KCNJ10	3766	broad.mit.edu	37	chr1	160012031	160012031	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	gttggccggggggtccagctCcagcaggtccccatgtgcca	5	7	15	14	1	0	0	0	0	0	0	3	0	3	0	6	5	3	3	6	5	0	1	rs200054482		TCGA-J9-A8CL-01A-11D-A34U-08	TCGA-J9-A8CL-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1f9f2e-7a09-4e2d-bb99-c881a34a8da2	e5a23b9d-18a0-4cb4-8743-3d53fc3c45b4	g.chr1:160012031C>G	ENST00000368089.3	-	2	518	c.292G>C	c.(292-294)Gag>Cag	p.E98Q	KCNJ10_ENST00000509700.1_5'UTR	NM_002241.4	NP_002232.2	P78508	KCJ10_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 10	98					adult walking behavior (GO:0007628)|central nervous system myelination (GO:0022010)|inflammatory response (GO:0006954)|L-glutamate uptake involved in synaptic transmission (GO:0051935)|membrane hyperpolarization (GO:0060081)|optic nerve development (GO:0021554)|potassium ion homeostasis (GO:0055075)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|protein homotetramerization (GO:0051289)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of resting membrane potential (GO:0060075)|regulation of sensory perception of pain (GO:0051930)|response to blue light (GO:0009637)|response to glucocorticoid (GO:0051384)|response to mineralocorticoid (GO:0051385)|synaptic transmission (GO:0007268)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|dystrophin-associated glycoprotein complex (GO:0016010)|integral component of plasma membrane (GO:0005887)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATP-activated inward rectifier potassium channel activity (GO:0015272)			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)	17	all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)		Yohimbine(DB01392)	GGGTCCAGCTCCAGCAGGTCC	0.582													C|||	1	0.000199681	0	0	5008	,	,		21462	0.001		0	False		,,,				2504	0				GBM(167;1368 2014 14817 36425 43215)	ENST00000368089.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)	17						c.(292-294)Gag>Cag		potassium inwardly-rectifying channel, subfamily J, member 10							103	106	105					1																	160012031		2203	4300	6503	SO:0001583	missense	3766					integral to plasma membrane	ATP binding|ATP-activated inward rectifier potassium channel activity	g.chr1:160012031C>G	U52155	CCDS1193.1	1q23.2	2011-07-05			ENSG00000177807	ENSG00000177807		"Potassium channels", "Voltage-gated ion channels / Potassium channels, Inwardly rectifying"	6256	protein-coding gene	gene with protein product		602208				9367690, 8995301, 16382105	Standard	NM_002241		Approved	Kir4.1, Kir1.2	uc001fuw.2	P78508	OTTHUMG00000024073	ENST00000368089.3:c.292G>C	1.37:g.160012031C>G	ENSP00000357068:p.Glu98Gln					KCNJ10_ENST00000509700.1_5'UTR	p.E98Q	NM_002241.4	NP_002232.2	P78508	IRK10_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)		2	518	-	all_hematologic(112;0.093)		98					A3KME7|Q5VUT9|Q8N4I7|Q92808	Missense_Mutation	SNP	ENST00000368089.3	37	c.292G>C	CCDS1193.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	13.17	2.155857	0.38021	.	.	ENSG00000177807	ENST00000368089	D	0.94046	-3.34	5.26	5.26	0.73747	Potassium channel, inwardly rectifying, Kir, conserved region 2 (1);	0.070108	0.53938	D	0.000048	D	0.87208	0.6120	L	0.51914	1.62	0.58432	D	0.999993	B	0.26318	0.146	B	0.27715	0.082	D	0.83885	0.0281	10	0.21014	T	0.42	.	16.4095	0.83703	0.0:1.0:0.0:0.0	.	98	P78508	IRK10_HUMAN	Q	98	ENSP00000357068:E98Q	ENSP00000357068:E98Q	E	-	1	0	KCNJ10	158278655	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	6.055000	0.71103	2.735000	0.93741	0.655000	0.94253	GAG		0.582	KCNJ10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060629.1	NM_002241		26	56	0	0	0	1	0	26	56					G	160012031	C	G	160012031	3	3	290	1	0	0	0	0	1	0	0	0	8044	864	30	5	851	5	KCNJ10	1	160012031	Missense_Mutation	SNP	C	TCGA-J9-A8CL-01A-11D-A34U-08	728027	160012031	89238590	7	13945											
NCSTN	23385	broad.mit.edu	37	chr1	160321118	160321118	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgtcatcagcactgccacctGcatgcggcgcagctccatcc	7	8	9	17	2	2	0	2	0	0	0	4	0	4	0	4	1	5	4	4	1	0	0			TCGA-J9-A8CL-01A-11D-A34U-08	TCGA-J9-A8CL-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1f9f2e-7a09-4e2d-bb99-c881a34a8da2	e5a23b9d-18a0-4cb4-8743-3d53fc3c45b4	g.chr1:160321118G>C	ENST00000294785.5	+	6	814	c.689G>C	c.(688-690)tGc>tCc	p.C230S	NCSTN_ENST00000535857.1_Intron|NCSTN_ENST00000368063.1_Missense_Mutation_p.C210S|NCSTN_ENST00000368065.4_Intron|NCSTN_ENST00000392212.4_Missense_Mutation_p.C210S|NCSTN_ENST00000459963.1_Intron	NM_015331.2	NP_056146.1	Q92542	NICA_HUMAN	nicastrin	230					amyloid precursor protein catabolic process (GO:0042987)|apoptotic signaling pathway (GO:0097190)|beta-amyloid metabolic process (GO:0050435)|epithelial cell proliferation (GO:0050673)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|membrane protein ectodomain proteolysis (GO:0006509)|membrane protein intracellular domain proteolysis (GO:0031293)|myeloid cell homeostasis (GO:0002262)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|positive regulation of apoptotic process (GO:0043065)|positive regulation of catalytic activity (GO:0043085)|protein processing (GO:0016485)|proteolysis (GO:0006508)|T cell proliferation (GO:0042098)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|plasma membrane (GO:0005886)	endopeptidase activity (GO:0004175)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(2)	34	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			ACTGCCACCTGCATGCGGCGC	0.537																																						ENST00000368063.1																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(2)	34						c.(628-630)tGc>tCc		nicastrin							115	85	96					1																	160321118		2203	4300	6503	SO:0001583	missense	23385				amyloid precursor protein catabolic process|apoptosis|induction of apoptosis by extracellular signals|membrane protein ectodomain proteolysis|membrane protein intracellular domain proteolysis|nerve growth factor receptor signaling pathway|Notch receptor processing|Notch signaling pathway|positive regulation of catalytic activity|protein processing	endoplasmic reticulum|Golgi apparatus|integral to plasma membrane|melanosome	protein binding	g.chr1:160321118G>C	AF240468	CCDS1203.1	1q22-q23	2014-09-17			ENSG00000162736	ENSG00000162736			17091	protein-coding gene	gene with protein product		605254				9039502, 10993067	Standard	XM_005245053		Approved	KIAA0253, APH2	uc001fvx.3	Q92542	OTTHUMG00000033110	ENST00000294785.5:c.689G>C	1.37:g.160321118G>C	ENSP00000294785:p.Cys230Ser					NCSTN_ENST00000392212.4_Missense_Mutation_p.C210S|NCSTN_ENST00000368065.4_Intron|NCSTN_ENST00000535857.1_Intron|NCSTN_ENST00000459963.1_Intron|NCSTN_ENST00000294785.5_Missense_Mutation_p.C230S	p.C210S			Q92542	NICA_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)		7	909	+	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		230					Q5T207|Q5T208|Q86VV5	Missense_Mutation	SNP	ENST00000294785.5	37	c.629G>C	CCDS1203.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	24.7|24.7	4.561574|4.561574	0.86335|0.86335	.|.	.|.	ENSG00000162736|ENSG00000162736	ENST00000424645|ENST00000294785;ENST00000368063;ENST00000392212	.|D;D;D	.|0.84800	.|-1.9;-1.9;-1.9	5.01|5.01	5.01|5.01	0.66863|0.66863	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.91855|0.91855	0.7422|0.7422	M|M	0.85373|0.85373	2.75|2.75	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.91635	.|0.999;0.998	D|D	0.92647|0.92647	0.6129|0.6129	5|10	.|0.72032	.|D	.|0.01	-21.1804|-21.1804	15.1734|15.1734	0.72894|0.72894	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|210;230	.|Q92542-2;Q92542	.|.;NICA_HUMAN	P|S	66|230;210;210	.|ENSP00000294785:C230S;ENSP00000357042:C210S;ENSP00000376047:C210S	.|ENSP00000294785:C230S	A|C	+|+	1|2	0|0	NCSTN|NCSTN	158587742|158587742	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.936000|0.936000	0.57629|0.57629	8.241000|8.241000	0.89816|0.89816	2.606000|2.606000	0.88127|0.88127	0.655000|0.655000	0.94253|0.94253	GCA|TGC		0.537	NCSTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080622.1	NM_015331		4	23	0	0	0	1	0	4	23					C	160321118	G	C	160321118	3	2	290	1	0	0	0	0	1	0	0	0	10241	1319	46	5	711	5	NCSTN	1	160321118	Missense_Mutation	SNP	G	TCGA-J9-A8CL-01A-11D-A34U-08	309087	160321118	88929503	8	13946											
NDUFS2	4720	broad.mit.edu	37	chr1	161179951	161179951	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tatcagttttctaagaacttCtctcttcggcttgatgagtt	8	18	7	8	1	4	3	1	2	3	1	6	3	4	3	0	1	1	3	0	1	3	8			TCGA-J9-A8CL-01A-11D-A34U-08	TCGA-J9-A8CL-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1f9f2e-7a09-4e2d-bb99-c881a34a8da2	e5a23b9d-18a0-4cb4-8743-3d53fc3c45b4	g.chr1:161179951C>G	ENST00000367993.3	+	8	1201	c.753C>G	c.(751-753)ttC>ttG	p.F251L	NDUFS2_ENST00000465923.1_3'UTR|NDUFS2_ENST00000476409.2_Missense_Mutation_p.F153L|NDUFS2_ENST00000392179.4_Missense_Mutation_p.F251L	NM_004550.4	NP_004541.1	O75306	NDUS2_HUMAN	NADH dehydrogenase (ubiquinone) Fe-S protein 2, 49kDa (NADH-coenzyme Q reductase)	251					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|electron carrier activity (GO:0009055)|metal ion binding (GO:0046872)|NAD binding (GO:0051287)|NADH dehydrogenase (ubiquinone) activity (GO:0008137)|quinone binding (GO:0048038)			breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(8)|prostate(1)|skin(1)	18	all_cancers(52;1.16e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Doxorubicin(DB00997)	CTAAGAACTTCTCTCTTCGGC	0.448											OREG0013941	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000392179.4																			0				breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(8)|prostate(1)|skin(1)	18						c.(751-753)ttC>ttG		NADH dehydrogenase (ubiquinone) Fe-S protein 2, 49kDa (NADH-coenzyme Q reductase)	NADH(DB00157)						108	102	104					1																	161179951		2203	4300	6503	SO:0001583	missense	4720				mitochondrial electron transport, NADH to ubiquinone|response to oxidative stress|transport	mitochondrial respiratory chain complex I	4 iron, 4 sulfur cluster binding|electron carrier activity|metal ion binding|NAD binding|NADH dehydrogenase (ubiquinone) activity|protein binding|quinone binding	g.chr1:161179951C>G	BC008868	CCDS1224.1, CCDS53404.1	1q23.3	2011-07-04	2002-08-29		ENSG00000158864	ENSG00000158864	1.6.5.3	"Mitochondrial respiratory chain complex / Complex I"	7708	protein-coding gene	gene with protein product	"complex I 49kDa subunit", "NADH dehydrogenase [ubiquinone] iron-sulfur protein 2, mitochondrial"	602985	"NADH dehydrogenase (ubiquinone) Fe-S protein 2 (49kD) (NADH-coenzyme Q reductase)"			1832859, 9585441	Standard	NM_004550		Approved	CI-49	uc001fyw.3	O75306	OTTHUMG00000034344	ENST00000367993.3:c.753C>G	1.37:g.161179951C>G	ENSP00000356972:p.Phe251Leu		OREG0013941	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1814	NDUFS2_ENST00000465923.1_3'UTR|NDUFS2_ENST00000367993.3_Missense_Mutation_p.F251L|NDUFS2_ENST00000476409.2_Missense_Mutation_p.F153L	p.F251L	NM_001166159.1	NP_001159631.1	O75306	NDUS2_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00376)		7	992	+	all_cancers(52;1.16e-17)|all_hematologic(112;0.093)		251					D3DVG7|J3KPM7|Q5VTW0|Q969P3|Q9UEV3	Missense_Mutation	SNP	ENST00000367993.3	37	c.753C>G	CCDS1224.1	.	.	.	.	.	.	.	.	.	.	C	29.4	5.003807	0.93287	.	.	ENSG00000158864	ENST00000367993;ENST00000392179;ENST00000476409;ENST00000546154	D;D;D	0.85088	-1.94;-1.94;-1.94	5.29	3.44	0.39384	NADH-quinone oxidoreductase, subunit D (1);	0.048605	0.85682	D	0.000000	T	0.82268	0.5000	L	0.52011	1.625	0.58432	D	0.999990	D;P;P	0.55385	0.971;0.525;0.525	P;B;B	0.56278	0.795;0.443;0.443	D	0.83803	0.0237	9	0.87932	D	0	.	10.839	0.46704	0.0:0.8451:0.0:0.1549	.	200;251;251	B7Z792;Q53HG2;O75306	.;.;NDUS2_HUMAN	L	251;251;153;42	ENSP00000356972:F251L;ENSP00000376018:F251L;ENSP00000446447:F153L	ENSP00000356972:F251L	F	+	3	2	NDUFS2	159446575	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	2.749000	0.47492	0.812000	0.34326	0.655000	0.94253	TTC		0.448	NDUFS2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000083015.1	NM_004550		35	23	0	0	0	1	0	35	23					G	161179951	C	G	161179951	3	3	290	1	0	0	0	0	1	0	0	0	10292	912	32	5	779	5	NDUFS2	1	161179951	Missense_Mutation	SNP	C	TCGA-J9-A8CL-01A-11D-A34U-08	858833	161179951	88070670	9	13947											
METTL13	51603	broad.mit.edu	37	chr1	171753168	171753168	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggatgctggctgaggttggcCgtgtcctgcaggtgggcggt	3	10	20	8	2	0	1	0	1	0	0	1	2	1	2	2	7	2	4	2	7	0	1	rs530716487		TCGA-J9-A8CL-01A-11D-A34U-08	TCGA-J9-A8CL-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1f9f2e-7a09-4e2d-bb99-c881a34a8da2	e5a23b9d-18a0-4cb4-8743-3d53fc3c45b4	g.chr1:171753168C>T	ENST00000361735.3	+	2	708	c.442C>T	c.(442-444)Cgt>Tgt	p.R148C	METTL13_ENST00000362019.3_Missense_Mutation_p.R62C|METTL13_ENST00000367737.5_Missense_Mutation_p.R148C|METTL13_ENST00000458517.1_Missense_Mutation_p.R147C	NM_015935.4	NP_057019.3	Q8N6R0	MET13_HUMAN	methyltransferase like 13	148							methyltransferase activity (GO:0008168)			breast(3)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(8)|lung(17)|stomach(3)	41						TGAGGTTGGCCGTGTCCTGCA	0.592																																						ENST00000361735.3																			0				breast(3)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(8)|lung(17)|stomach(3)	41						c.(442-444)Cgt>Tgt		methyltransferase like 13							113	90	98					1																	171753168		2203	4300	6503	SO:0001583	missense	51603						methyltransferase activity|protein binding	g.chr1:171753168C>T	AF132936	CCDS1299.1, CCDS1300.1, CCDS30936.1	1q24-q25.3	2009-02-23	2009-02-23	2009-02-23	ENSG00000010165	ENSG00000010165			24248	protein-coding gene	gene with protein product			"KIAA0859"	KIAA0859		10810093, 10048485	Standard	NM_001007239		Approved	CGI-01	uc001ghz.3	Q8N6R0	OTTHUMG00000034912	ENST00000361735.3:c.442C>T	1.37:g.171753168C>T	ENSP00000354920:p.Arg148Cys					METTL13_ENST00000367737.5_Missense_Mutation_p.R148C|METTL13_ENST00000458517.1_Missense_Mutation_p.R147C|METTL13_ENST00000362019.3_Missense_Mutation_p.R62C	p.R148C	NM_015935.4	NP_057019.3	Q8N6R0	MTL13_HUMAN			2	708	+			148					A6NFK0|A8K6S5|O94940|Q53EZ6|Q5TGP9|Q5TGQ0|Q8N2P8|Q96J11|Q96SQ0|Q9Y2Z1|Q9Y3M6	Missense_Mutation	SNP	ENST00000361735.3	37	c.442C>T	CCDS1299.1	.	.	.	.	.	.	.	.	.	.	C	20.1	3.931893	0.73442	.	.	ENSG00000010165	ENST00000458517;ENST00000362019;ENST00000367737;ENST00000361735;ENST00000367736;ENST00000341850	T;T;T;T;T	0.73897	-0.79;-0.79;0.94;-0.79;-0.79	5.23	5.23	0.72850	Methyltransferase type 11 (1);	0.000000	0.85682	D	0.000000	D	0.90034	0.6888	H	0.96239	3.79	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.952;1.0	D	0.93127	0.6530	10	0.87932	D	0	-11.1606	18.4043	0.90528	0.0:1.0:0.0:0.0	.	147;148;148	B4E2X3;Q8N6R0-1;Q8N6R0	.;.;MTL13_HUMAN	C	147;62;148;148;65;62	ENSP00000401955:R147C;ENSP00000355393:R62C;ENSP00000356711:R148C;ENSP00000354920:R148C;ENSP00000356710:R65C	ENSP00000341732:R62C	R	+	1	0	METTL13	170019791	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.297000	0.59061	2.397000	0.81536	0.655000	0.94253	CGT		0.592	METTL13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084528.5	NM_014955		28	11	0	0	0	1	0	28	11					T	171753168	C	T	171753168	3	4	290	1	0	0	0	0	1	0	0	0	9497	652	23	2	448	2	METTL13	1	171753168	Missense_Mutation	SNP	C	TCGA-J9-A8CL-01A-11D-A34U-08	10573217	171753168	77497453	10	13948											
MFSD9	84804	broad.mit.edu	37	chr2	103353178	103353178	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggagtcggcagcctccgccTcggttcctgtcttctgctcc	2	11	11	17	4	2	0	0	0	2	0	7	1	5	1	5	3	2	3	5	3	0	2			TCGA-J9-A8CL-01A-11D-A34U-08	TCGA-J9-A8CL-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1f9f2e-7a09-4e2d-bb99-c881a34a8da2	e5a23b9d-18a0-4cb4-8743-3d53fc3c45b4	g.chr2:103353178T>A	ENST00000258436.5	-	1	135	c.92A>T	c.(91-93)gAg>gTg	p.E31V	TMEM182_ENST00000409173.1_5'Flank|TMEM182_ENST00000409528.1_5'Flank	NM_032718.3	NP_116107.3	Q8NBP5	MFSD9_HUMAN	major facilitator superfamily domain containing 9	31					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			breast(3)|large_intestine(7)|liver(1)|lung(6)|ovary(2)|skin(1)	20						AGCCTCCGCCTCGGTTCCTGT	0.672																																						ENST00000258436.5																			0				breast(3)|large_intestine(7)|liver(1)|lung(6)|ovary(2)|skin(1)	20						c.(91-93)gAg>gTg		major facilitator superfamily domain containing 9							33	39	37					2																	103353178		2202	4299	6501	SO:0001583	missense	84804				transmembrane transport	integral to membrane|plasma membrane	transporter activity	g.chr2:103353178T>A		CCDS2063.1	2q12.1	2007-01-12			ENSG00000135953	ENSG00000135953			28158	protein-coding gene	gene with protein product							Standard	NM_032718		Approved	MGC11332	uc002tcb.2	Q8NBP5	OTTHUMG00000130781	ENST00000258436.5:c.92A>T	2.37:g.103353178T>A	ENSP00000258436:p.Glu31Val						p.E31V	NM_032718.3	NP_116107.3	Q8NBP5	MFSD9_HUMAN			1	135	-			31					Q4ZG89|Q53TU0|Q96GQ4|Q9BRI8	Missense_Mutation	SNP	ENST00000258436.5	37	c.92A>T	CCDS2063.1	.	.	.	.	.	.	.	.	.	.	T	14.86	2.661492	0.47572	.	.	ENSG00000135953	ENST00000258436	T	0.66460	-0.21	3.76	-1.78	0.07957	Major facilitator superfamily domain, general substrate transporter (1);	0.851134	0.09753	N	0.760271	T	0.42223	0.1193	N	0.19112	0.55	0.09310	N	1	B	0.30068	0.267	B	0.24541	0.054	T	0.16897	-1.0387	10	0.30078	T	0.28	.	4.1651	0.10303	0.0:0.2021:0.324:0.4739	.	31	Q8NBP5	MFSD9_HUMAN	V	31	ENSP00000258436:E31V	ENSP00000258436:E31V	E	-	2	0	MFSD9	102719610	0.000000	0.05858	0.000000	0.03702	0.081000	0.17604	-0.441000	0.06879	-0.420000	0.07427	0.454000	0.30748	GAG		0.672	MFSD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253295.2	NM_032718		6	26	0	0	0	1	0	6	26					A	103353178	T	A	103353178	3	1	290	1	0	0	0	0	1	0	0	0	9539	1551	54	5	1356	5	MFSD9	2	103353178	Missense_Mutation	SNP	T	TCGA-J9-A8CL-01A-11D-A34U-08		103353178	139846195	11	13949											
MYO7B	4648	broad.mit.edu	37	chr2	128335737	128335737	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acttcctgtgaggggctcaaCgacgccaaggactacgccca	10	6	11	14	3	1	1	1	1	0	0	2	3	2	2	3	3	2	1	3	3	3	2	rs369461546		TCGA-J9-A8CL-01A-11D-A34U-08	TCGA-J9-A8CL-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1f9f2e-7a09-4e2d-bb99-c881a34a8da2	e5a23b9d-18a0-4cb4-8743-3d53fc3c45b4	g.chr2:128335737C>T	ENST00000409816.2	+	8	911	c.879C>T	c.(877-879)aaC>aaT	p.N293N	MYO7B_ENST00000389524.4_Silent_p.N293N|MYO7B_ENST00000428314.1_Silent_p.N293N			Q6PIF6	MYO7B_HUMAN	myosin VIIB	293	Myosin motor.					extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		AGGGGCTCAACGACGCCAAGG	0.632																																						ENST00000389524.4																			0				breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75						c.(877-879)aaC>aaT		myosin VIIB		C		0,4234		0,0,2117	56	62	60		879	-6.6	0	2		60	1,8449		0,1,4224	no	coding-synonymous	MYO7B	NM_001080527.1		0,1,6341	TT,TC,CC		0.0118,0.0,0.0079		293/2117	128335737	1,12683	2117	4225	6342	SO:0001819	synonymous_variant	4648					apical plasma membrane|myosin complex	actin binding|ATP binding|motor activity	g.chr2:128335737C>T		CCDS46405.1	2q21.1	2011-09-27			ENSG00000169994	ENSG00000169994		"Myosins / Myosin superfamily : Class VII"	7607	protein-coding gene	gene with protein product		606541				8022818, 8884266	Standard	NM_001080527		Approved		uc002top.3	Q6PIF6	OTTHUMG00000153419	ENST00000409816.2:c.879C>T	2.37:g.128335737C>T						MYO7B_ENST00000409816.2_Silent_p.N293N|MYO7B_ENST00000428314.1_Silent_p.N293N	p.N293N			Q6PIF6	MYO7B_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0753)	9	932	+	Colorectal(110;0.1)		293			Myosin head-like.		Q14786|Q8TEE1	Silent	SNP	ENST00000409816.2	37	c.879C>T	CCDS46405.1																																																																																				0.632	MYO7B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000331124.3	XM_291001		9	16	0	0	0	1	0	9	16					T	128335737	C	T	128335737	2	4	290	1	0	0	0	0	0	0	0	1	10083	535	19	1		1	MYO7B	2	128335737	Silent	SNP	C	TCGA-J9-A8CL-01A-11D-A34U-08	24982559	128335737	114863636	12	13950											
XIRP2	129446	broad.mit.edu	37	chr2	168115485	168115485	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aggccttatggtaaagggggGaagttcaatcatctctcctg	10	11	12	8	0	3	0	2	0	1	0	5	1	4	1	2	5	0	2	2	5	5	3			TCGA-J9-A8CL-01A-11D-A34U-08	TCGA-J9-A8CL-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1f9f2e-7a09-4e2d-bb99-c881a34a8da2	e5a23b9d-18a0-4cb4-8743-3d53fc3c45b4	g.chr2:168115485G>T	ENST00000409728.1	+	11	2617	c.2528G>T	c.(2527-2529)gGa>gTa	p.G843V	XIRP2_ENST00000295237.9_3'UTR|XIRP2_ENST00000409756.2_Missense_Mutation_p.G810V|XIRP2_ENST00000409605.1_Missense_Mutation_p.G588V|XIRP2_ENST00000420519.1_Missense_Mutation_p.G843V|XIRP2_ENST00000409273.1_3'UTR|XIRP2_ENST00000409043.1_Missense_Mutation_p.G810V|XIRP2_ENST00000409195.1_3'UTR	NM_001199143.1	NP_001186072.1	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	0					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						GTAAAGGGGGGAAGTTCAATC	0.438																																						ENST00000409728.1																			0				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						c.(2527-2529)gGa>gTa		xin actin-binding repeat containing 2							29	28	29					2																	168115485		1842	4099	5941	SO:0001583	missense	129446				actin cytoskeleton organization	cell junction	actin binding	g.chr2:168115485G>T	AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"myomaxin"	609778	"cardiomyopathy associated 3"	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409728.1:c.2528G>T	2.37:g.168115485G>T	ENSP00000386619:p.Gly843Val					XIRP2_ENST00000409605.1_Missense_Mutation_p.G588V|XIRP2_ENST00000409195.1_3'UTR|XIRP2_ENST00000409273.1_3'UTR|XIRP2_ENST00000409043.1_Missense_Mutation_p.G810V|XIRP2_ENST00000409756.2_Missense_Mutation_p.G810V|XIRP2_ENST00000295237.9_3'UTR|XIRP2_ENST00000420519.1_Missense_Mutation_p.G843V	p.G843V	NM_001199143.1	NP_001186072.1	A4UGR9	XIRP2_HUMAN			11	2617	+			0					A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Missense_Mutation	SNP	ENST00000409728.1	37	c.2528G>T	CCDS56143.1	.	.	.	.	.	.	.	.	.	.	G	1.010	-0.688117	0.03328	.	.	ENSG00000163092	ENST00000409043;ENST00000409728;ENST00000409756;ENST00000420519;ENST00000409605	T;T;T;T;T	0.76709	-1.03;-1.04;-1.03;-1.04;-1.03	5.45	-0.0528	0.13820	.	.	.	.	.	T	0.60753	0.2293	.	.	.	0.09310	N	1	B;B	0.20988	0.05;0.05	B;B	0.21917	0.037;0.037	T	0.48293	-0.9048	8	0.39692	T	0.17	.	2.1802	0.03872	0.3128:0.397:0.1775:0.1127	.	810;843	A4UGR9-4;A4UGR9-6	.;.	V	810;843;810;843;588	ENSP00000386454:G810V;ENSP00000386619:G843V;ENSP00000386724:G810V;ENSP00000415541:G843V;ENSP00000386981:G588V	ENSP00000386454:G810V	G	+	2	0	XIRP2	167823731	0.001000	0.12720	0.002000	0.10522	0.014000	0.08584	0.334000	0.19787	0.045000	0.15804	-1.567000	0.00876	GGA		0.438	XIRP2-006	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333552.1	NM_152381		3	21	1	0	0.115264	1	0.119239	3	21					T	168115485	G	T	168115485	3	4	290	1	0	0	0	0	1	0	0	0	17427	1174	41	5	11846	5	XIRP2	2	168115485	Missense_Mutation	SNP	G	TCGA-J9-A8CL-01A-11D-A34U-08	39779748	168115485	75083888	13	13951											
TLK1	9874	broad.mit.edu	37	chr2	171884862	171884862	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	cacatacctttttgagatgtCctagtctaagtttgaaaatt	12	16	6	7	0	1	2	0	2	1	1	2	3	2	2	2	0	1	1	2	0	5	7			TCGA-J9-A8CL-01A-11D-A34U-08	TCGA-J9-A8CL-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1f9f2e-7a09-4e2d-bb99-c881a34a8da2	e5a23b9d-18a0-4cb4-8743-3d53fc3c45b4	g.chr2:171884862C>G	ENST00000431350.2	-	12	1627	c.1223G>C	c.(1222-1224)gGa>gCa	p.G408A	TLK1_ENST00000360843.3_Missense_Mutation_p.G429A|TLK1_ENST00000442919.2_Missense_Mutation_p.G360A|TLK1_ENST00000521943.1_Missense_Mutation_p.G360A|TLK1_ENST00000434911.2_Missense_Mutation_p.G312A			Q9UKI8	TLK1_HUMAN	tousled-like kinase 1	408					cell cycle (GO:0007049)|cellular response to DNA damage stimulus (GO:0006974)|chromatin modification (GO:0016568)|intracellular protein transport (GO:0006886)|intracellular signal transduction (GO:0035556)|protein phosphorylation (GO:0006468)|regulation of chromatin assembly or disassembly (GO:0001672)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(8)|liver(3)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	33						TTTGAGATGTCCTAGTCTAAG	0.303																																						ENST00000442919.2																			0				breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(8)|liver(3)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	33						c.(1078-1080)gGa>gCa		tousled-like kinase 1							155	147	150					2																	171884862		2203	4300	6503	SO:0001583	missense	9874				cell cycle|chromatin modification|intracellular protein transport|intracellular signal transduction|regulation of chromatin assembly or disassembly|response to DNA damage stimulus	nucleus	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr2:171884862C>G	AB004885	CCDS2241.1, CCDS46447.1, CCDS46448.1	2q31.1	2010-04-19			ENSG00000198586	ENSG00000198586			11841	protein-coding gene	gene with protein product		608438				9427565, 12660173	Standard	NM_012290		Approved	KIAA0137, PKU-BETA	uc002ugp.2	Q9UKI8	OTTHUMG00000132243	ENST00000431350.2:c.1223G>C	2.37:g.171884862C>G	ENSP00000411099:p.Gly408Ala					TLK1_ENST00000431350.2_Missense_Mutation_p.G408A|TLK1_ENST00000434911.2_Missense_Mutation_p.G312A|TLK1_ENST00000521943.1_Missense_Mutation_p.G360A|TLK1_ENST00000360843.3_Missense_Mutation_p.G429A	p.G360A	NM_012290.4	NP_036422.3	Q9UKI8	TLK1_HUMAN			12	1694	-			408					B3KR15|B4DX87|Q14150|Q8N591|Q9NYH2|Q9Y4F6	Missense_Mutation	SNP	ENST00000431350.2	37	c.1079G>C	CCDS2241.1	.	.	.	.	.	.	.	.	.	.	C	12.66	2.003575	0.35320	.	.	ENSG00000198586	ENST00000442919;ENST00000431350;ENST00000360843;ENST00000521943;ENST00000434911	T;T;T;T;T	0.62105	0.08;0.05;0.05;0.08;0.07	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	T	0.54515	0.1863	L	0.31371	0.925	0.58432	D	0.999997	B;B;B	0.27679	0.001;0.004;0.185	B;B;B	0.31191	0.005;0.02;0.125	T	0.48445	-0.9035	10	0.30078	T	0.28	-29.8848	18.6541	0.91441	0.0:1.0:0.0:0.0	.	312;429;408	B4DX87;Q9UKI8-2;Q9UKI8	.;.;TLK1_HUMAN	A	360;408;429;360;312	ENSP00000402165:G360A;ENSP00000411099:G408A;ENSP00000354089:G429A;ENSP00000428113:G360A;ENSP00000409222:G312A	ENSP00000354089:G429A	G	-	2	0	TLK1	171593108	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.165000	0.71891	2.699000	0.92147	0.655000	0.94253	GGA		0.303	TLK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255314.1	NM_012290		5	22	0	0	0	1	0	5	22					G	171884862	C	G	171884862	3	3	290	1	0	0	0	0	1	0	0	0	15940	855	30	5	1117	5	TLK1	2	171884862	Missense_Mutation	SNP	C	TCGA-J9-A8CL-01A-11D-A34U-08	3769377	171884862	71314511	14	13952											
TTN	7273	broad.mit.edu	37	chr2	179485645	179485645	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttggcaccttcagtattgActtcacagttgaagacaact	11	13	7	10	0	2	3	2	2	0	1	2	3	2	3	1	1	1	3	1	1	3	6			TCGA-J9-A8CL-01A-11D-A34U-08	TCGA-J9-A8CL-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1f9f2e-7a09-4e2d-bb99-c881a34a8da2	e5a23b9d-18a0-4cb4-8743-3d53fc3c45b4	g.chr2:179485645A>G	ENST00000591111.1	-	197	40993	c.40769T>C	c.(40768-40770)gTc>gCc	p.V13590A	TTN_ENST00000342992.6_Missense_Mutation_p.V12663A|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.V6291A|TTN_ENST00000460472.2_Missense_Mutation_p.V6166A|TTN_ENST00000589042.1_Missense_Mutation_p.V15231A|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.V6358A|TTN-AS1_ENST00000604956.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589907.1_RNA			Q8WZ42	TITIN_HUMAN	titin	13590	Ig-like 92.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTCAGTATTGACTTCACAGTT	0.403																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(45691-45693)gTc>gCc		titin							107	100	102					2																	179485645		1856	4088	5944	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179485645A>G	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.40769T>C	2.37:g.179485645A>G	ENSP00000465570:p.Val13590Ala					TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.V13590A|TTN_ENST00000460472.2_Missense_Mutation_p.V6166A|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.V6291A|TTN_ENST00000342992.6_Missense_Mutation_p.V12663A|TTN_ENST00000342175.6_Missense_Mutation_p.V6358A	p.V15231A	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		247	45916	-			13590			Fibronectin type-III 11.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.45692T>C		.	.	.	.	.	.	.	.	.	.	A	12.85	2.062443	0.36373	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.73575	-0.76;-0.76;-0.76;-0.76	5.83	5.83	0.93111	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.66742	0.2820	L	0.35487	1.065	0.50813	D	0.999893	B;B;B;P	0.36199	0.37;0.37;0.37;0.543	B;B;B;B	0.34991	0.114;0.114;0.114;0.193	T	0.70757	-0.4785	9	0.87932	D	0	.	16.1968	0.82036	1.0:0.0:0.0:0.0	.	6166;6291;6358;13590	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	A	12663;6166;6358;6291;6166	ENSP00000343764:V12663A;ENSP00000434586:V6166A;ENSP00000340554:V6358A;ENSP00000352154:V6291A	ENSP00000340554:V6358A	V	-	2	0	TTN	179193890	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	7.446000	0.80609	2.225000	0.72522	0.533000	0.62120	GTC		0.403	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		10	55	0	0	0	1	0	10	55					G	179485645	A	G	179485645	3	3	290	1	0	0	0	0	1	0	0	0	16732	275	10	4	62465	4	TTN	2	179485645	Missense_Mutation	SNP	A	TCGA-J9-A8CL-01A-11D-A34U-08	7600783	179485645	63713728	15	13953											
ZNF804A	91752	broad.mit.edu	37	chr2	185802145	185802145	+	Nonsense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agtgacaatgaagaaatgtgTaaaacatggaatactgaata	20	9	9	3	0	0	4	0	3	0	1	0	5	0	5	0	1	2	1	0	1	9	3			TCGA-J9-A8CL-01A-11D-A34U-08	TCGA-J9-A8CL-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1f9f2e-7a09-4e2d-bb99-c881a34a8da2	e5a23b9d-18a0-4cb4-8743-3d53fc3c45b4	g.chr2:185802145T>A	ENST00000302277.6	+	4	2616	c.2022T>A	c.(2020-2022)tgT>tgA	p.C674*		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	674							metal ion binding (GO:0046872)			NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						AAGAAATGTGTAAAACATGGA	0.318																																						ENST00000302277.6																			0				NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						c.(2020-2022)tgT>tgA		zinc finger protein 804A							83	85	84					2																	185802145		2203	4296	6499	SO:0001587	stop_gained	91752					intracellular	zinc ion binding	g.chr2:185802145T>A	AF052145	CCDS2291.1	2q32.1	2012-10-05	2006-10-27	2006-10-27	ENSG00000170396	ENSG00000170396			21711	protein-coding gene	gene with protein product		612282		C2orf10		12970790	Standard	NM_194250		Approved		uc002uph.3	Q7Z570	OTTHUMG00000132625	ENST00000302277.6:c.2022T>A	2.37:g.185802145T>A	ENSP00000303252:p.Cys674*						p.C674*	NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN			4	2616	+			674					A7E253|Q6ZN26	Nonsense_Mutation	SNP	ENST00000302277.6	37	c.2022T>A	CCDS2291.1	.	.	.	.	.	.	.	.	.	.	T	42	9.261049	0.99117	.	.	ENSG00000170396	ENST00000302277	.	.	.	5.54	-1.6	0.08426	.	1.077850	0.07129	N	0.845275	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.48119	T	0.1	1.711	5.6538	0.17631	0.0:0.2042:0.2427:0.5531	.	.	.	.	X	674	.	ENSP00000303252:C674X	C	+	3	2	ZNF804A	185510390	0.024000	0.19004	0.000000	0.03702	0.372000	0.29890	0.808000	0.27154	-0.245000	0.09625	0.533000	0.62120	TGT		0.318	ZNF804A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255871.1	NM_194250		6	93	0	0	0	1	0	6	93					A	185802145	T	A	185802145	4	1	290	1	0	0	0	0	0	1	0	0	18167	1644	57	5	2036	5	ZNF804A	2	185802145	Nonsense_Mutation	SNP	T	TCGA-J9-A8CL-01A-11D-A34U-08	6316500	185802145	57397228	16	13954											
FAM134A	79137	broad.mit.edu	37	chr2	220046151	220046151	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actggcagagacagagagtgAaagcgaggcagagctggctg	13	4	17	7	1	0	4	0	1	0	3	0	7	0	4	0	3	2	4	0	3	1	0			TCGA-J9-A8CL-01A-11D-A34U-08	TCGA-J9-A8CL-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1f9f2e-7a09-4e2d-bb99-c881a34a8da2	e5a23b9d-18a0-4cb4-8743-3d53fc3c45b4	g.chr2:220046151A>T	ENST00000430297.2	+	7	981	c.845A>T	c.(844-846)gAa>gTa	p.E282V		NM_024293.4	NP_077269.3	Q8NC44	F134A_HUMAN	family with sequence similarity 134, member A	282						integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)	19		Renal(207;0.0915)		Epithelial(149;8.92e-07)|all cancers(144;0.000151)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		ACAGAGAGTGAAAGCGAGGCA	0.532																																						ENST00000430297.2																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)	19						c.(844-846)gAa>gTa		family with sequence similarity 134, member A							57	59	58					2																	220046151		2203	4300	6503	SO:0001583	missense	79137					endoplasmic reticulum|integral to membrane		g.chr2:220046151A>T	AK074983	CCDS2434.1	2q36.1	2008-02-05	2007-05-01	2007-05-01	ENSG00000144567	ENSG00000144567			28450	protein-coding gene	gene with protein product			"chromosome 2 open reading frame 17"	C2orf17			Standard	NM_024293		Approved	MGC3035	uc002vjw.4	Q8NC44	OTTHUMG00000154577	ENST00000430297.2:c.845A>T	2.37:g.220046151A>T	ENSP00000395249:p.Glu282Val						p.E282V	NM_024293.4	NP_077269.3	Q8NC44	F134A_HUMAN		Epithelial(149;8.92e-07)|all cancers(144;0.000151)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	7	981	+		Renal(207;0.0915)	282					Q6P1P5|Q9H0K7	Missense_Mutation	SNP	ENST00000430297.2	37	c.845A>T	CCDS2434.1	.	.	.	.	.	.	.	.	.	.	A	26.5	4.744511	0.89663	.	.	ENSG00000144567	ENST00000458520;ENST00000430297;ENST00000452022;ENST00000443518	T;T	0.53423	0.62;0.99	4.85	4.85	0.62838	.	0.047913	0.85682	D	0.000000	T	0.67249	0.2873	M	0.71581	2.175	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.963	T	0.70978	-0.4725	10	0.62326	D	0.03	-8.5674	14.6022	0.68447	1.0:0.0:0.0:0.0	.	75;282	E7EUL4;Q8NC44	.;F134A_HUMAN	V	75;282;75;75	ENSP00000403898:E75V;ENSP00000395249:E282V	ENSP00000395249:E282V	E	+	2	0	FAM134A	219754395	1.000000	0.71417	1.000000	0.80357	0.901000	0.52897	6.439000	0.73430	2.028000	0.59812	0.533000	0.62120	GAA		0.532	FAM134A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336147.2	NM_024293		14	45	0	0	0	1	0	14	45					T	220046151	A	T	220046151	3	4	290	1	0	0	0	0	1	0	0	0	5445	246	9	5	871	5	FAM134A	2	220046151	Missense_Mutation	SNP	A	TCGA-J9-A8CL-01A-11D-A34U-08	34244006	220046151	23153222	17	13955											
DOCK10	55619	broad.mit.edu	37	chr2	225662683	225662683	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acagtcacattgttggagttGtctctggaaattcaatgcag	11	13	10	7	0	3	0	2	0	1	0	4	2	3	2	0	2	1	3	0	2	2	4			TCGA-J9-A8CL-01A-11D-A34U-08	TCGA-J9-A8CL-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1f9f2e-7a09-4e2d-bb99-c881a34a8da2	e5a23b9d-18a0-4cb4-8743-3d53fc3c45b4	g.chr2:225662683G>A	ENST00000258390.7	-	42	4577	c.4510C>T	c.(4510-4512)Caa>Taa	p.Q1504*	DOCK10_ENST00000409592.3_Nonsense_Mutation_p.Q1498*	NM_014689.2	NP_055504.2	Q96BY6	DOC10_HUMAN	dedicator of cytokinesis 10	1504					regulation of cell migration (GO:0030334)|small GTPase mediated signal transduction (GO:0007264)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	87		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)		TGTTGGAGTTGTCTCTGGAAA	0.363																																						ENST00000409592.3																			0				NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	87						c.(4492-4494)Caa>Taa		dedicator of cytokinesis 10							58	57	57					2																	225662683		1863	4095	5958	SO:0001587	stop_gained	55619						GTP binding	g.chr2:225662683G>A	AB014594	CCDS46528.1, CCDS74661.1	2q36.3	2013-01-10			ENSG00000135905	ENSG00000135905		"Pleckstrin homology (PH) domain containing"	23479	protein-coding gene	gene with protein product	"zizimin3"	611518				12432077	Standard	NM_014689		Approved	ZIZ3, KIAA0694	uc010fwz.1	Q96BY6	OTTHUMG00000153428	ENST00000258390.7:c.4510C>T	2.37:g.225662683G>A	ENSP00000258390:p.Gln1504*					DOCK10_ENST00000258390.7_Nonsense_Mutation_p.Q1504*	p.Q1498*			Q96BY6	DOC10_HUMAN		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)	42	4605	-		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)	1504					B3FL70|O75178|Q9NW06|Q9NXI8	Nonsense_Mutation	SNP	ENST00000258390.7	37	c.4492C>T	CCDS46528.1	.	.	.	.	.	.	.	.	.	.	G	45	11.607508	0.99582	.	.	ENSG00000135905	ENST00000409592;ENST00000258390;ENST00000373702	.	.	.	5.95	5.95	0.96441	.	0.051933	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.36615	T	0.2	.	14.3028	0.66364	0.0:0.0:0.852:0.148	.	.	.	.	X	1498;1504;42	.	ENSP00000258390:Q1504X	Q	-	1	0	DOCK10	225370927	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.960000	0.76036	2.824000	0.97209	0.655000	0.94253	CAA		0.363	DOCK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331246.1			3	35	0	0	0	1	0	3	35					A	225662683	G	A	225662683	4	1	290	1	0	0	0	0	0	1	0	0	4685	1386	48	3	2110	3	DOCK10	2	225662683	Nonsense_Mutation	SNP	G	TCGA-J9-A8CL-01A-11D-A34U-08	5616532	225662683	17536690	18	13956											
SPHKAP	80309	broad.mit.edu	37	chr2	228890233	228890233	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tttggaagatctggtgaaacGttgaccagtttctgtaaagc	11	13	11	6	1	2	3	0	2	2	1	2	4	2	4	1	2	2	3	1	2	4	4			TCGA-J9-A8CL-01A-11D-A34U-08	TCGA-J9-A8CL-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1f9f2e-7a09-4e2d-bb99-c881a34a8da2	e5a23b9d-18a0-4cb4-8743-3d53fc3c45b4	g.chr2:228890233G>A	ENST00000392056.3	-	5	364	c.318C>T	c.(316-318)aaC>aaT	p.N106N	SPHKAP_ENST00000344657.5_Silent_p.N106N	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	106						extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|Z disc (GO:0030018)	protein kinase A binding (GO:0051018)			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		CTGGTGAAACGTTGACCAGTT	0.348																																						ENST00000392056.3																			0				NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185						c.(316-318)aaC>aaT		SPHK1 interactor, AKAP domain containing							104	101	102					2																	228890233		2203	4300	6503	SO:0001819	synonymous_variant	80309					cytoplasm	protein binding	g.chr2:228890233G>A		CCDS33389.1, CCDS46537.1	2q36.3	2010-08-20			ENSG00000153820	ENSG00000153820		"A-kinase anchor proteins"	30619	protein-coding gene	gene with protein product	"sphingosine kinase type 1-interacting protein"	611646				12080051, 11214970	Standard	NM_030623		Approved	SKIP	uc002vpq.2	Q2M3C7	OTTHUMG00000153584	ENST00000392056.3:c.318C>T	2.37:g.228890233G>A						SPHKAP_ENST00000344657.5_Silent_p.N106N	p.N106N	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)	5	364	-		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)	106					Q68DA3|Q68DR8|Q9C0I5	Silent	SNP	ENST00000392056.3	37	c.318C>T	CCDS46537.1																																																																																				0.348	SPHKAP-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331750.1	NM_030623		13	56	0	0	0	1	0	13	56					A	228890233	G	A	228890233	2	1	290	1	0	0	0	0	0	0	0	1	15047	1136	40	1		1	SPHKAP	2	228890233	Silent	SNP	G	TCGA-J9-A8CL-01A-11D-A34U-08	3227550	228890233	14309140	19	13957											
SYN2	6854	broad.mit.edu	37	chr3	12187209	12187209	+	RNA	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ccagacttcgtgctcatccgGcagcatgcatttggcatggc	7	10	11	13	2	1	1	1	0	0	1	3	1	2	1	2	3	3	5	2	3	0	2			TCGA-J9-A8CL-01A-11D-A34U-08	TCGA-J9-A8CL-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1f9f2e-7a09-4e2d-bb99-c881a34a8da2	e5a23b9d-18a0-4cb4-8743-3d53fc3c45b4	g.chr3:12187209G>A	ENST00000432424.2	+	0	730							Q92777	SYN2_HUMAN	synapsin II						neurotransmitter secretion (GO:0007269)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|synaptic vesicle (GO:0008021)	ATP binding (GO:0005524)|catalytic activity (GO:0003824)			breast(5)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)	18						TGCTCATCCGGCAGCATGCAT	0.522																																						ENST00000432424.2																			0				breast(5)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)	18								synapsin II							69	67	67					3																	12187209		2023	4206	6229			6854				neurotransmitter secretion	synaptic vesicle	ATP binding|ligase activity	g.chr3:12187209G>A		CCDS74900.1, CCDS74901.1	3p25.2	2013-09-20			ENSG00000157152	ENSG00000157152			11495	protein-coding gene	gene with protein product		600755				8530057	Standard	XM_006713311		Approved	SYNII, SYNIIa, SYNIIb	uc003bwm.3	Q92777	OTTHUMG00000155335		3.37:g.12187209G>A										Q86VA8	Q86VA8_HUMAN			0	730	+								A8MY98	RNA	SNP	ENST00000432424.2	37																																																																																						0.522	SYN2-002	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000339528.3	NM_133625		3	42	0	0	0	1	0	3	42					A	12187209	G	A	12187209	1	1	290	0	1	0	0	0	0	0	0	0	15438	1190	42	3		3	SYN2	3	12187209	RNA	SNP	G	TCGA-J9-A8CL-01A-11D-A34U-08		12187209	185835221	20	13958											
MYRIP	25924	broad.mit.edu	37	chr3	40231654	40231654	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaggccatgtgctctgactcGgagacctcctccgcaggctc	6	8	12	15	2	1	2	0	1	1	1	5	4	3	2	4	3	1	3	4	3	0	0	rs146724522	byFrequency	TCGA-J9-A8CL-01A-11D-A34U-08	TCGA-J9-A8CL-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1f9f2e-7a09-4e2d-bb99-c881a34a8da2	e5a23b9d-18a0-4cb4-8743-3d53fc3c45b4	g.chr3:40231654G>A	ENST00000302541.6	+	10	1707	c.1365G>A	c.(1363-1365)tcG>tcA	p.S455S	MYRIP_ENST00000539167.1_Silent_p.S268S|MYRIP_ENST00000396217.3_Silent_p.S366S|MYRIP_ENST00000459828.1_3'UTR|MYRIP_ENST00000425621.1_Silent_p.S455S|MYRIP_ENST00000444716.1_Silent_p.S455S	NM_001284423.1|NM_001284426.1|NM_015460.2	NP_001271352.1|NP_001271355.1|NP_056275.2	Q8NFW9	MYRIP_HUMAN	myosin VIIA and Rab interacting protein	455	Myosin-binding.				intracellular protein transport (GO:0006886)|positive regulation of insulin secretion (GO:0032024)	actin cytoskeleton (GO:0015629)|dense core granule (GO:0031045)|exocyst (GO:0000145)|melanosome (GO:0042470)|perinuclear region of cytoplasm (GO:0048471)|photoreceptor outer segment (GO:0001750)|synapse (GO:0045202)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(2)|lung(10)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				KIRC - Kidney renal clear cell carcinoma(284;0.174)|Kidney(284;0.206)		GCTCTGACTCGGAGACCTCCT	0.637																																						ENST00000302541.6																			0				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(2)|lung(10)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						c.(1363-1365)tcG>tcA		myosin VIIA and Rab interacting protein		G		0,4406		0,0,2203	57	60	59		1365	-11.6	0.4	3	dbSNP_134	59	4,8596	3.7+/-12.6	0,4,4296	no	coding-synonymous	MYRIP	NM_015460.2		0,4,6499	AA,AG,GG		0.0465,0.0,0.0308		455/860	40231654	4,13002	2203	4300	6503	SO:0001819	synonymous_variant	25924				intracellular protein transport		actin binding|zinc ion binding	g.chr3:40231654G>A	AF396687	CCDS2689.1, CCDS68390.1, CCDS68391.1, CCDS68392.1	3p21.33	2010-08-20			ENSG00000170011	ENSG00000170011		"A-kinase anchor proteins"	19156	protein-coding gene	gene with protein product	"synaptotagmin-like protein homologue lacking C2 domains-c", "rab effector MYRIP", "Slp homologue lacking C2 domains"	611790				11964381, 12221080	Standard	NM_001284425		Approved	DKFZp586F1018, exophilin-8, MyRIP, SLAC2-C, SLAC2C	uc003cka.3	Q8NFW9	OTTHUMG00000131392	ENST00000302541.6:c.1365G>A	3.37:g.40231654G>A						MYRIP_ENST00000459828.1_3'UTR|MYRIP_ENST00000425621.1_Silent_p.S455S|MYRIP_ENST00000444716.1_Silent_p.S455S|MYRIP_ENST00000396217.3_Silent_p.S366S|MYRIP_ENST00000539167.1_Silent_p.S268S	p.S455S	NM_015460.2	NP_056275.2	Q8NFW9	MYRIP_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.174)|Kidney(284;0.206)	10	1707	+			455			Myosin-binding.		B3KWM3|B3KWW4|B7Z2H1|B7Z9V3|G3XAI8|Q32M41|Q32M42|Q569F7|Q8IUF5|Q9Y3V4	Silent	SNP	ENST00000302541.6	37	c.1365G>A	CCDS2689.1																																																																																				0.637	MYRIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254181.2	NM_015460		24	32	0	0	0	1	0	24	32					A	40231654	G	A	40231654	2	1	290	1	0	0	0	0	0	0	0	1	10100	1103	39	2		2	MYRIP	3	40231654	Silent	SNP	G	TCGA-J9-A8CL-01A-11D-A34U-08	28044445	40231654	157790776	21	13959											
SEMA5B	54437	broad.mit.edu	37	chr3	122645513	122645513	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccaatatcataggctgccaCgaagtttggctctgggtggg	8	10	13	10	1	2	0	1	0	1	0	2	1	2	0	2	4	1	3	2	4	4	3			TCGA-J9-A8CL-01A-11D-A34U-08	TCGA-J9-A8CL-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1f9f2e-7a09-4e2d-bb99-c881a34a8da2	e5a23b9d-18a0-4cb4-8743-3d53fc3c45b4	g.chr3:122645513C>T	ENST00000357599.3	-	9	1248	c.862G>A	c.(862-864)Gtg>Atg	p.V288M	AC078794.1_ENST00000408284.1_RNA|SEMA5B_ENST00000451055.2_Missense_Mutation_p.V342M|SEMA5B_ENST00000195173.4_Missense_Mutation_p.V288M	NM_001031702.3|NM_001256348.1	NP_001026872.2|NP_001243277.1	Q9P283	SEM5B_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B	288	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)	integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(13)|lung(26)|ovary(2)|pancreas(3)|skin(2)|upper_aerodigestive_tract(3)	55				GBM - Glioblastoma multiforme(114;0.0367)		TAGGCTGCCACGAAGTTTGGC	0.592																																						ENST00000195173.4																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(13)|lung(26)|ovary(2)|pancreas(3)|skin(2)|upper_aerodigestive_tract(3)	55						c.(862-864)Gtg>Atg		sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B							48	41	44					3																	122645513		2203	4300	6503	SO:0001583	missense	54437				cell differentiation|nervous system development	integral to membrane	receptor activity	g.chr3:122645513C>T	AB040878	CCDS35491.1, CCDS58848.1, CCDS74995.1	3q21.1	2008-07-18			ENSG00000082684	ENSG00000082684		"Semaphorins"	10737	protein-coding gene	gene with protein product		609298		SEMAG		8817451	Standard	NM_001256346		Approved	SemG, KIAA1445, FLJ10372	uc031sbm.1	Q9P283	OTTHUMG00000140392	ENST00000357599.3:c.862G>A	3.37:g.122645513C>T	ENSP00000350215:p.Val288Met					SEMA5B_ENST00000451055.2_Missense_Mutation_p.V342M|SEMA5B_ENST00000357599.3_Missense_Mutation_p.V288M	p.V288M			Q9P283	SEM5B_HUMAN		GBM - Glioblastoma multiforme(114;0.0367)	9	1165	-			288			Sema.		A8K5U2|B7Z393|F8W9U8|Q6DD89|Q6UY12|Q9NW17	Missense_Mutation	SNP	ENST00000357599.3	37	c.862G>A	CCDS35491.1	.	.	.	.	.	.	.	.	.	.	C	18.35	3.605712	0.66445	.	.	ENSG00000082684	ENST00000357599;ENST00000195173;ENST00000418793;ENST00000451055;ENST00000393583	T;T;T;T	0.14893	2.47;2.47;2.47;2.47	4.69	4.69	0.59074	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.157567	0.44688	D	0.000427	T	0.29256	0.0728	M	0.77313	2.365	0.42493	D	0.992903	D;D;D	0.59767	0.982;0.986;0.986	P;P;P	0.49953	0.493;0.627;0.627	T	0.07829	-1.0752	10	0.72032	D	0.01	.	10.1574	0.42831	0.0:0.8995:0.0:0.1005	.	230;288;288	D3YTI7;B5ME80;Q9P283	.;.;SEM5B_HUMAN	M	288;288;230;342;288	ENSP00000350215:V288M;ENSP00000195173:V288M;ENSP00000389588:V342M;ENSP00000377208:V288M	ENSP00000195173:V288M	V	-	1	0	SEMA5B	124128203	0.992000	0.36948	0.997000	0.53966	0.985000	0.73830	2.531000	0.45650	2.433000	0.82419	0.650000	0.86243	GTG		0.592	SEMA5B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000277165.1	NM_001031702		6	35	0	0	0	1	0	6	35					T	122645513	C	T	122645513	3	4	290	1	0	0	0	0	1	0	0	0	14038	536	19	1	2653	1	SEMA5B	3	122645513	Missense_Mutation	SNP	C	TCGA-J9-A8CL-01A-11D-A34U-08	82413859	122645513	75376917	22	13960											
KALRN	8997	broad.mit.edu	37	chr3	124374511	124374511	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaggatctgggcattgtggtGgaggtaagtagagggttcca	10	10	17	4	0	1	1	0	0	1	1	2	3	2	3	1	6	0	4	1	6	3	4			TCGA-J9-A8CL-01A-11D-A34U-08	TCGA-J9-A8CL-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1f9f2e-7a09-4e2d-bb99-c881a34a8da2	e5a23b9d-18a0-4cb4-8743-3d53fc3c45b4	g.chr3:124374511G>T	ENST00000291478.5	+	6	928	c.765G>T	c.(763-765)gtG>gtT	p.V255V	KALRN_ENST00000393496.1_Silent_p.V293V|KALRN_ENST00000459915.1_Silent_p.V44V|KALRN_ENST00000428018.2_Silent_p.V223V|KALRN_ENST00000360013.3_Silent_p.V1952V	NM_007064.3	NP_008995.2	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	1951					apoptotic signaling pathway (GO:0097190)|intracellular signal transduction (GO:0035556)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|protein phosphorylation (GO:0006468)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						GCATTGTGGTGGAGGTAAGTA	0.493																																						ENST00000360013.3																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						c.(5854-5856)gtG>gtT		kalirin, RhoGEF kinase							205	186	192					3																	124374511		2203	4300	6503	SO:0001819	synonymous_variant	8997				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity	g.chr3:124374511G>T	U94190	CCDS3027.1, CCDS3028.1	3q21.2	2013-02-11	2005-03-11	2005-03-12	ENSG00000160145	ENSG00000160145		"Rho guanine nucleotide exchange factors", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	4814	protein-coding gene	gene with protein product	"serine/threonine kinase with Dbl and pleckstrin homology domains"	604605	"huntingtin-associated protein interacting protein (duo)"	HAPIP		9285789, 10023074	Standard	NM_001024660		Approved	duo, Hs.8004, TRAD, DUET, Kalirin, ARHGEF24	uc003ehd.3	O60229	OTTHUMG00000125545	ENST00000291478.5:c.765G>T	3.37:g.124374511G>T						KALRN_ENST00000428018.2_Silent_p.V223V|KALRN_ENST00000459915.1_Silent_p.V44V|KALRN_ENST00000291478.4_Silent_p.V255V|KALRN_ENST00000393496.1_Silent_p.V293V	p.V1952V	NM_001024660.3	NP_001019831.2	O60229	KALRN_HUMAN			39	5983	+			1951			DH 2.		A8MSI4|C9JQ37|Q6ZN45|Q8TBQ5|Q9NSZ4|Q9Y2A5	Silent	SNP	ENST00000291478.5	37	c.5856G>T	CCDS3028.1	.	.	.	.	.	.	.	.	.	.	G	9.869	1.198323	0.22037	.	.	ENSG00000160145	ENST00000354186	.	.	.	5.42	2.69	0.31865	.	.	.	.	.	T	0.58032	0.2094	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.51116	-0.8746	4	.	.	.	.	8.7913	0.34852	0.2912:0.0:0.7088:0.0	.	.	.	.	L	1921	.	.	W	+	2	0	KALRN	125857201	1.000000	0.71417	1.000000	0.80357	0.906000	0.53458	1.639000	0.37176	0.427000	0.26145	-0.136000	0.14681	TGG		0.493	KALRN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000246891.5	NM_003947		8	62	1	0	0.335167	1	0.338933	8	62					T	124374511	G	T	124374511	2	4	290	1	0	0	0	0	0	0	0	1	7975	1335	47	5		5	KALRN	3	124374511	Silent	SNP	G	TCGA-J9-A8CL-01A-11D-A34U-08	1728998	124374511	73647919	23	13961											
ZNF148	7707	broad.mit.edu	37	chr3	124951540	124951540	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gtgaatcaccaactattagtCcaaagtgggacttatctgga	13	11	9	8	0	2	1	1	1	1	0	3	3	3	3	2	2	1	0	2	2	6	3			TCGA-J9-A8CL-01A-11D-A34U-08	TCGA-J9-A8CL-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1f9f2e-7a09-4e2d-bb99-c881a34a8da2	e5a23b9d-18a0-4cb4-8743-3d53fc3c45b4	g.chr3:124951540C>A	ENST00000360647.4	-	9	2515	c.2030G>T	c.(2029-2031)gGa>gTa	p.G677V	ZNF148_ENST00000468369.1_Intron|ZNF148_ENST00000497929.1_5'UTR|ZNF148_ENST00000485866.1_Missense_Mutation_p.G677V|ZNF148_ENST00000544464.1_Intron|ZNF148_ENST00000484491.1_Missense_Mutation_p.G677V|ZNF148_ENST00000492394.1_Missense_Mutation_p.G677V|SLC12A8_ENST00000423114.2_Intron	NM_021964.2	NP_068799.2	Q9UQR1	ZN148_HUMAN	zinc finger protein 148	677					cellular defense response (GO:0006968)|gamete generation (GO:0007276)|negative regulation of gene expression (GO:0010629)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein complex assembly (GO:0006461)|substantia nigra development (GO:0021762)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			breast(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(3)|liver(1)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3)	28						AACTATTAGTCCAAAGTGGGA	0.438																																						ENST00000360647.4																			0				breast(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(3)|liver(1)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3)	28						c.(2029-2031)gGa>gTa		zinc finger protein 148							184	168	173					3																	124951540		2203	4300	6503	SO:0001583	missense	7707				cellular defense response|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	Golgi apparatus|nucleus	protein binding|sequence-specific DNA binding|zinc ion binding	g.chr3:124951540C>A	U09851	CCDS3031.1	3q21.2	2013-01-08	2006-06-13		ENSG00000163848	ENSG00000163848		"Zinc fingers, C2H2-type"	12933	protein-coding gene	gene with protein product		601897	"zinc finger protein 148 (pHZ-52)"			7557990, 9925940	Standard	NM_021964		Approved	BERF-1, ZBP-89, BFCOL1, HT-BETA, ZFP148, pHZ-52	uc003ehx.4	Q9UQR1	OTTHUMG00000159448	ENST00000360647.4:c.2030G>T	3.37:g.124951540C>A	ENSP00000353863:p.Gly677Val					ZNF148_ENST00000485866.1_Missense_Mutation_p.G677V|SLC12A8_ENST00000423114.2_Intron|ZNF148_ENST00000492394.1_Missense_Mutation_p.G677V|ZNF148_ENST00000544464.1_Intron|ZNF148_ENST00000497929.1_5'UTR|ZNF148_ENST00000468369.1_Intron|ZNF148_ENST00000484491.1_Missense_Mutation_p.G677V	p.G677V	NM_021964.2	NP_068799.2	Q9UQR1	ZN148_HUMAN			9	2515	-			677					D3DN27|O00389|O43591|Q58EY5|Q6PJ98	Missense_Mutation	SNP	ENST00000360647.4	37	c.2030G>T	CCDS3031.1	.	.	.	.	.	.	.	.	.	.	C	13.93	2.383327	0.42207	.	.	ENSG00000163848	ENST00000360647;ENST00000484491;ENST00000492394;ENST00000485866	T;T;T;T	0.48522	0.81;0.81;0.81;0.81	5.14	4.25	0.50352	.	0.108808	0.64402	D	0.000007	T	0.43787	0.1263	L	0.45137	1.4	0.80722	D	1	P	0.48694	0.914	B	0.43575	0.424	T	0.50608	-0.8808	10	0.87932	D	0	-13.3138	14.2147	0.65786	0.0:0.9264:0.0:0.0736	.	677	Q9UQR1	ZN148_HUMAN	V	677	ENSP00000353863:G677V;ENSP00000420335:G677V;ENSP00000419322:G677V;ENSP00000420448:G677V	ENSP00000353863:G677V	G	-	2	0	ZNF148	126434230	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.619000	0.54196	2.673000	0.90976	0.591000	0.81541	GGA		0.438	ZNF148-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355452.4	NM_021964		52	87	1	0	1.0331e-37	1	1.23971e-37	52	87					A	124951540	C	A	124951540	3	1	290	1	0	0	0	0	1	0	0	0	17731	855	30	5	358	5	ZNF148	3	124951540	Missense_Mutation	SNP	C	TCGA-J9-A8CL-01A-11D-A34U-08	577029	124951540	73070890	24	13962											
ASTE1	28990	broad.mit.edu	37	chr3	130743334	130743334	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtatttcagaacattatctaGtgcttcggtagggttggcaa	10	14	11	6	1	2	1	1	0	1	1	3	1	2	1	0	3	2	5	0	3	6	7			TCGA-J9-A8CL-01A-11D-A34U-08	TCGA-J9-A8CL-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1f9f2e-7a09-4e2d-bb99-c881a34a8da2	e5a23b9d-18a0-4cb4-8743-3d53fc3c45b4	g.chr3:130743334G>A	ENST00000264992.3	-	3	1258	c.817C>T	c.(817-819)Cta>Tta	p.L273L	NEK11_ENST00000383366.4_5'Flank|ASTE1_ENST00000514044.1_Silent_p.L273L|NEK11_ENST00000511262.1_5'Flank|NEK11_ENST00000510688.1_5'Flank|NEK11_ENST00000412440.2_5'Flank|NEK11_ENST00000356918.4_5'Flank|NEK11_ENST00000510769.1_5'Flank|NEK11_ENST00000429253.2_5'Flank	NM_014065.2	NP_054784.2	Q2TB18	ASTE1_HUMAN	asteroid homolog 1 (Drosophila)	273					DNA repair (GO:0006281)		nuclease activity (GO:0004518)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)	22						ACATTATCTAGTGCTTCGGTA	0.458																																						ENST00000264992.3																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)	22						c.(817-819)Cta>Tta		asteroid homolog 1 (Drosophila)							92	88	90					3																	130743334		2203	4300	6503	SO:0001819	synonymous_variant	28990				DNA repair		nuclease activity	g.chr3:130743334G>A	AF113539	CCDS3068.1, CCDS75007.1	3q21.3	2005-11-17			ENSG00000034533	ENSG00000034533			25021	protein-coding gene	gene with protein product							Standard	NM_014065		Approved	HT001	uc003env.1	Q2TB18	OTTHUMG00000159644	ENST00000264992.3:c.817C>T	3.37:g.130743334G>A						ASTE1_ENST00000514044.1_Silent_p.L273L	p.L273L	NM_014065.2	NP_054784.2	Q2TB18	ASTE1_HUMAN			3	1258	-			273					B4DFL9|Q3MIB6|Q8N6G4|Q96JY1|Q9UHX6	Silent	SNP	ENST00000264992.3	37	c.817C>T	CCDS3068.1																																																																																				0.458	ASTE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356659.1	NM_014065		20	49	0	0	0	1	0	20	49					A	130743334	G	A	130743334	2	1	290	1	0	0	0	0	0	0	0	1	1062	1020	36	3		3	ASTE1	3	130743334	Silent	SNP	G	TCGA-J9-A8CL-01A-11D-A34U-08	5791794	130743334	67279096	25	13963											
PIK3CA	5290	broad.mit.edu	37	chr3	178928235	178928235	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttaggaaactccatgcttagAgttggagtttgactggttca	10	14	11	6	0	1	2	1	1	0	1	2	4	2	4	1	3	2	4	1	3	3	5			TCGA-J9-A8CL-01A-11D-A34U-08	TCGA-J9-A8CL-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1f9f2e-7a09-4e2d-bb99-c881a34a8da2	e5a23b9d-18a0-4cb4-8743-3d53fc3c45b4	g.chr3:178928235A>C	ENST00000263967.3	+	9	1578	c.1421A>C	c.(1420-1422)gAg>gCg	p.E474A		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	474	C2 PI3K-type. {ECO:0000255|PROSITE- ProRule:PRU00880}.				angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)			NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	CCATGCTTAGAGTTGGAGTTT	0.373		57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	ENST00000263967.3		57		Dom	yes		3	3q26.3	5290	Mis	"phosphoinositide-3-kinase, catalytic, alpha polypeptide"			"E, O"			"colorectal, gastric, gliobastoma, breast"		0				NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269						c.(1420-1422)gAg>gCg		phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha							108	100	103					3																	178928235		1853	4100	5953	SO:0001583	missense	5290				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	g.chr3:178928235A>C		CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"phosphoinositide-3-kinase, catalytic, alpha polypeptide"			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.1421A>C	3.37:g.178928235A>C	ENSP00000263967:p.Glu474Ala	HNSCC(19;0.045)|TSP Lung(28;0.18)					p.E474A	NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		9	1578	+	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		474			C2 PI3K-type.		Q14CW1|Q99762	Missense_Mutation	SNP	ENST00000263967.3	37	c.1421A>C	CCDS43171.1	.	.	.	.	.	.	.	.	.	.	A	22.5	4.296325	0.81025	.	.	ENSG00000121879	ENST00000263967	T	0.77098	-1.07	5.64	5.64	0.86602	C2 calcium/lipid-binding domain, CaLB (1);Phosphoinositide 3-kinase, C2 (1);	0.154150	0.56097	D	0.000021	T	0.75199	0.3817	L	0.41710	1.295	0.80722	D	1	D	0.53619	0.961	P	0.50970	0.655	T	0.71388	-0.4608	10	0.07813	T	0.8	-7.9431	15.8545	0.78965	1.0:0.0:0.0:0.0	.	474	P42336	PK3CA_HUMAN	A	474	ENSP00000263967:E474A	ENSP00000263967:E474A	E	+	2	0	PIK3CA	180410929	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.935000	0.92923	2.160000	0.67779	0.533000	0.62120	GAG		0.373	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2			37	53	0	0	0	1	0	37	53					C	178928235	A	C	178928235	3	2	290	1	0	0	0	0	1	0	0	0	11913	304	11	5	1451	5	PIK3CA	3	178928235	Missense_Mutation	SNP	A	TCGA-J9-A8CL-01A-11D-A34U-08	48184901	178928235	19094195	26	13964											
ATP13A4	84239	broad.mit.edu	37	chr3	193207583	193207583	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgattatgatggcaaaagcaTattccttatagtcttcacta	13	15	6	7	0	2	2	1	2	1	0	3	2	3	2	1	1	1	2	1	1	7	7	rs376309661		TCGA-J9-A8CL-01A-11D-A34U-08	TCGA-J9-A8CL-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1f9f2e-7a09-4e2d-bb99-c881a34a8da2	e5a23b9d-18a0-4cb4-8743-3d53fc3c45b4	g.chr3:193207583T>A	ENST00000342695.4	-	7	996	c.674A>T	c.(673-675)tAt>tTt	p.Y225F	ATP13A4_ENST00000295548.3_Missense_Mutation_p.Y225F|ATP13A4_ENST00000392443.3_Missense_Mutation_p.Y225F	NM_032279.2	NP_115655.2	Q4VNC1	AT134_HUMAN	ATPase type 13A4	225						integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2)	71	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000109)		GGCAAAAGCATATTCCTTATA	0.323																																						ENST00000342695.4																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2)	71						c.(673-675)tAt>tTt		ATPase type 13A4							120	125	123					3																	193207583		2203	4299	6502	SO:0001583	missense	84239				ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding	g.chr3:193207583T>A	AK095277	CCDS3304.2	3q29	2010-04-20			ENSG00000127249	ENSG00000127249		"ATPases / P-type"	25422	protein-coding gene	gene with protein product		609556				14702039, 12975309	Standard	XM_005247829		Approved	DKFZp761I1011, FLJ37958	uc003ftd.3	Q4VNC1	OTTHUMG00000074067	ENST00000342695.4:c.674A>T	3.37:g.193207583T>A	ENSP00000339182:p.Tyr225Phe					ATP13A4_ENST00000392443.3_Missense_Mutation_p.Y225F|ATP13A4_ENST00000295548.3_Missense_Mutation_p.Y225F	p.Y225F	NM_032279.2	NP_115655.2	Q4VNC1	AT134_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000109)	7	996	-	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		225					B7WPC7|Q6UY23|Q8N1Q9|Q9H043	Missense_Mutation	SNP	ENST00000342695.4	37	c.674A>T	CCDS3304.2	.	.	.	.	.	.	.	.	.	.	T	18.27	3.587671	0.66105	.	.	ENSG00000127249	ENST00000392443;ENST00000342695;ENST00000295548	D;D;D	0.89343	-2.5;-2.5;-2.5	5.51	5.51	0.81932	ATPase,  P-type, cytoplasmic transduction domain A (1);	0.000000	0.56097	D	0.000023	D	0.91905	0.7437	M	0.84326	2.69	0.54753	D	0.999985	B;B	0.32543	0.375;0.258	B;B	0.42959	0.403;0.228	D	0.91716	0.5385	10	0.52906	T	0.07	-14.4666	14.7613	0.69607	0.0:0.0:0.0:1.0	.	225;225	Q4VNC1-2;Q4VNC1	.;AT134_HUMAN	F	225	ENSP00000376238:Y225F;ENSP00000339182:Y225F;ENSP00000295548:Y225F	ENSP00000295548:Y225F	Y	-	2	0	ATP13A4	194690277	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	6.352000	0.73027	2.232000	0.73038	0.467000	0.42956	TAT		0.323	ATP13A4-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157244.4	NM_032279		4	164	0	0	0	1	0	4	164					A	193207583	T	A	193207583	3	1	290	1	0	0	0	0	1	0	0	0	1126	1406	49	5	3012	5	ATP13A4	3	193207583	Missense_Mutation	SNP	T	TCGA-J9-A8CL-01A-11D-A34U-08	14279348	193207583	4814847	27	13965											
TRIM60	166655	broad.mit.edu	37	chr4	165962535	165962535	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atgaatgataggtctattctCtatacttttaacgattgttt	11	19	6	5	1	2	2	0	2	2	0	3	3	2	2	0	1	2	1	0	1	6	9			TCGA-J9-A8CL-01A-11D-A34U-08	TCGA-J9-A8CL-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1f9f2e-7a09-4e2d-bb99-c881a34a8da2	e5a23b9d-18a0-4cb4-8743-3d53fc3c45b4	g.chr4:165962535C>G	ENST00000512596.1	+	3	1527	c.1311C>G	c.(1309-1311)ctC>ctG	p.L437L	TRIM60_ENST00000508504.1_Silent_p.L437L|TRIM60_ENST00000341062.5_Silent_p.L437L	NM_152620.2	NP_689833.1	Q495X7	TRI60_HUMAN	tripartite motif containing 60	437	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.					intracellular (GO:0005622)	zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(3)|large_intestine(6)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	29	all_hematologic(180;0.221)	Prostate(90;0.0959)|Melanoma(52;0.18)		GBM - Glioblastoma multiforme(119;0.0844)		GGTCTATTCTCTATACTTTTA	0.358																																						ENST00000512596.1																			0				NS(1)|breast(2)|endometrium(3)|large_intestine(6)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	29						c.(1309-1311)ctC>ctG		tripartite motif containing 60							68	74	72					4																	165962535		2203	4300	6503	SO:0001819	synonymous_variant	166655					intracellular	zinc ion binding	g.chr4:165962535C>G	AK093201	CCDS3808.1	4q32.3	2013-01-09	2011-01-25	2004-11-17	ENSG00000176979	ENSG00000176979		"RING-type (C3HC4) zinc fingers", "Tripartite motif containing / Tripartite motif containing"	21162	protein-coding gene	gene with protein product			"ring finger protein 129", "tripartite motif-containing 60"	RNF129, RNF33			Standard	NM_152620		Approved	FLJ35882	uc003iqy.1	Q495X7	OTTHUMG00000161262	ENST00000512596.1:c.1311C>G	4.37:g.165962535C>G						TRIM60_ENST00000341062.5_Silent_p.L437L|TRIM60_ENST00000508504.1_Silent_p.L437L	p.L437L	NM_152620.2	NP_689833.1	Q495X7	TRI60_HUMAN		GBM - Glioblastoma multiforme(119;0.0844)	3	1527	+	all_hematologic(180;0.221)	Prostate(90;0.0959)|Melanoma(52;0.18)	437			B30.2/SPRY.		Q8NA35	Silent	SNP	ENST00000512596.1	37	c.1311C>G	CCDS3808.1																																																																																				0.358	TRIM60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364325.1	NM_152620		36	88	0	0	0	1	0	36	88					G	165962535	C	G	165962535	2	3	290	1	0	0	0	0	0	0	0	1	16532	900	32	5		5	TRIM60	4	165962535	Silent	SNP	C	TCGA-J9-A8CL-01A-11D-A34U-08		165962535	25191741	28	13966											
EDIL3	10085	broad.mit.edu	37	chr5	83476237	83476237	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gacagtgaatcccattaaatCctcggggacatttacaaaca	15	9	7	10	1	0	1	0	1	0	0	3	3	2	2	2	2	2	0	2	2	5	3			TCGA-J9-A8CL-01A-11D-A34U-08	TCGA-J9-A8CL-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1f9f2e-7a09-4e2d-bb99-c881a34a8da2	e5a23b9d-18a0-4cb4-8743-3d53fc3c45b4	g.chr5:83476237C>A	ENST00000296591.5	-	4	747	c.329G>T	c.(328-330)gGa>gTa	p.G110V	EDIL3_ENST00000380138.3_Missense_Mutation_p.G100V	NM_005711.3	NP_005702.3	O43854	EDIL3_HUMAN	EGF-like repeats and discoidin I-like domains 3	110	EGF-like 2. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cell adhesion (GO:0007155)|multicellular organismal development (GO:0007275)|positive regulation of cell-substrate adhesion (GO:0010811)	extracellular vesicular exosome (GO:0070062)|vesicle (GO:0031982)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)			cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(5)|skin(3)	31		Lung NSC(167;0.000121)|all_lung(232;0.000154)|Ovarian(174;0.0425)		OV - Ovarian serous cystadenocarcinoma(54;4.3e-40)|Epithelial(54;4.79e-32)|all cancers(79;1.54e-26)		CCCATTAAATCCTCGGGGACA	0.378																																						ENST00000296591.5																			0				cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(5)|skin(3)	31						c.(328-330)gGa>gTa		EGF-like repeats and discoidin I-like domains 3							102	94	97					5																	83476237		2203	4300	6503	SO:0001583	missense	10085				cell adhesion|multicellular organismal development	extracellular region	calcium ion binding|integrin binding	g.chr5:83476237C>A	U70312	CCDS4062.1, CCDS64195.1	5q14	2008-02-05			ENSG00000164176	ENSG00000164176			3173	protein-coding gene	gene with protein product		606018				9420328	Standard	NM_005711		Approved	DEL1	uc003kio.1	O43854	OTTHUMG00000119047	ENST00000296591.5:c.329G>T	5.37:g.83476237C>A	ENSP00000296591:p.Gly110Val					EDIL3_ENST00000380138.3_Missense_Mutation_p.G100V	p.G110V	NM_005711.3	NP_005702.3	O43854	EDIL3_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;4.3e-40)|Epithelial(54;4.79e-32)|all cancers(79;1.54e-26)	4	747	-		Lung NSC(167;0.000121)|all_lung(232;0.000154)|Ovarian(174;0.0425)	110			EGF-like 2.		B2R763|O43855|Q5D094|Q8N610	Missense_Mutation	SNP	ENST00000296591.5	37	c.329G>T	CCDS4062.1	.	.	.	.	.	.	.	.	.	.	C	18.47	3.631036	0.67015	.	.	ENSG00000164176	ENST00000296591;ENST00000380138	D;D	0.98221	-4.8;-4.8	5.35	5.35	0.76521	EGF (1);Epidermal growth factor-like (1);EGF-like region, conserved site (2);Epidermal growth factor-like, type 3 (1);	0.169599	0.52532	D	0.000080	D	0.99333	0.9766	H	0.95645	3.7	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.998;1.0	D	0.98784	1.0733	10	0.87932	D	0	-18.0638	19.4168	0.94704	0.0:1.0:0.0:0.0	.	100;110	O43854-2;O43854	.;EDIL3_HUMAN	V	110;100	ENSP00000296591:G110V;ENSP00000369483:G100V	ENSP00000296591:G110V	G	-	2	0	EDIL3	83511993	1.000000	0.71417	0.992000	0.48379	0.365000	0.29674	7.421000	0.80204	2.660000	0.90430	0.563000	0.77884	GGA		0.378	EDIL3-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239258.1	NM_005711		7	51	1	0	0.00448238	1	0.00474605	7	51					A	83476237	C	A	83476237	3	1	290	1	0	0	0	0	1	0	0	0	4915	855	30	5	1145	5	EDIL3	5	83476237	Missense_Mutation	SNP	C	TCGA-J9-A8CL-01A-11D-A34U-08		83476237	97439023	29	13967											
PCDHGA9	56107	broad.mit.edu	37	chr5	140783471	140783471	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	aatgttcattttatgaaatgGaaatacaagctgaagatggt	16	13	9	3	0	1	3	1	2	0	1	1	4	1	4	0	2	2	2	0	2	7	4			TCGA-J9-A8CL-01A-11D-A34U-08	TCGA-J9-A8CL-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1f9f2e-7a09-4e2d-bb99-c881a34a8da2	e5a23b9d-18a0-4cb4-8743-3d53fc3c45b4	g.chr5:140783471G>C	ENST00000573521.1	+	1	952	c.952G>C	c.(952-954)Gaa>Caa	p.E318Q	PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB3_ENST00000576222.1_Intron	NM_018921.2|NM_032089.1	NP_061744.1|NP_114478.1	Q9Y5G4	PCDG9_HUMAN	protocadherin gamma subfamily A, 9	318	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTATGAAATGGAAATACAAGC	0.358																																						ENST00000573521.1																			0				endometrium(1)|kidney(1)|lung(3)	5						c.(952-954)Gaa>Caa									138	137	138					5																	140783471		1870	4108	5978	SO:0001583	missense	0							g.chr5:140783471G>C	AF152516	CCDS58981.1, CCDS75341.1	5q31	2010-01-26						"Cadherins / Protocadherins : Clustered"	8707	other	protocadherin		606296				10380929	Standard	NM_018921		Approved	PCDH-GAMMA-A9		Q9Y5G4		ENST00000573521.1:c.952G>C	5.37:g.140783471G>C	ENSP00000460274:p.Glu318Gln					PCDHGA8_ENST00000398604.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA2_ENST00000394576.2_Intron	p.E318Q	NM_018921.2|NM_032089.1	NP_061744.1|NP_114478.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	952	+								A2RU65|Q9Y5C9	Missense_Mutation	SNP	ENST00000573521.1	37	c.952G>C	CCDS58981.1																																																																																				0.358	PCDHGA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437105.1	NM_018921		79	67	0	0	0	1	0	79	67					C	140783471	G	C	140783471	3	2	290	1	0	0	0	0	1	0	0	0	11561	1175	41	5	954	5	PCDHGA9	5	140783471	Missense_Mutation	SNP	G	TCGA-J9-A8CL-01A-11D-A34U-08	57307234	140783471	40131789	30	13968											
PPARGC1B	133522	broad.mit.edu	37	chr5	149212575	149212575	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagacccctgagccactcccCaaggcctgcagcaacccctc	9	4	7	21	0	0	2	0	1	0	1	2	2	1	2	8	1	4	2	8	1	2	0			TCGA-J9-A8CL-01A-11D-A34U-08	TCGA-J9-A8CL-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1f9f2e-7a09-4e2d-bb99-c881a34a8da2	e5a23b9d-18a0-4cb4-8743-3d53fc3c45b4	g.chr5:149212575C>G	ENST00000309241.5	+	5	971	c.939C>G	c.(937-939)ccC>ccG	p.P313P	PPARGC1B_ENST00000403750.1_Silent_p.P249P|PPARGC1B_ENST00000394320.3_Silent_p.P313P|PPARGC1B_ENST00000360453.4_Silent_p.P274P	NM_133263.3	NP_573570.3	Q86YN6	PRGC2_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator 1 beta	313					actin filament organization (GO:0007015)|bone trabecula formation (GO:0060346)|cellular lipid metabolic process (GO:0044255)|cellular response to reactive oxygen species (GO:0034614)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of transcription, DNA-templated (GO:0045892)|ossification (GO:0001503)|positive regulation of alkaline phosphatase activity (GO:0010694)|positive regulation of bone resorption (GO:0045780)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of phosphorylation (GO:0042327)|positive regulation of receptor activity (GO:2000273)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to cAMP (GO:0051591)|response to glucocorticoid (GO:0051384)|small molecule metabolic process (GO:0044281)|transcription from mitochondrial promoter (GO:0006390)|transcription from RNA polymerase II promoter (GO:0006366)	mediator complex (GO:0016592)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	AF-2 domain binding (GO:0050682)|estrogen receptor binding (GO:0030331)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nucleotide binding (GO:0000166)|receptor activator activity (GO:0030546)|RNA binding (GO:0003723)|RNA polymerase II transcription cofactor activity (GO:0001104)			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(2)|lung(15)|ovary(3)|prostate(2)|stomach(1)	30			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			AGCCACTCCCCAAGGCCTGCA	0.627																																						ENST00000309241.5																			0				NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(2)|lung(15)|ovary(3)|prostate(2)|stomach(1)	30						c.(937-939)ccC>ccG		peroxisome proliferator-activated receptor gamma, coactivator 1 beta							42	49	46					5																	149212575		2203	4300	6503	SO:0001819	synonymous_variant	133522				estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter	mediator complex	AF-2 domain binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|receptor activator activity|RNA binding|RNA polymerase II transcription cofactor activity	g.chr5:149212575C>G	AF468496	CCDS4298.1, CCDS54933.1, CCDS54934.1	5q33.1	2013-02-12	2006-10-17		ENSG00000155846	ENSG00000155846		"RNA binding motif (RRM) containing"	30022	protein-coding gene	gene with protein product		608886	"peroxisome proliferative activated receptor, gamma, coactivator 1, beta"			11793024, 11854298	Standard	NM_133263		Approved	PERC, PGC1B	uc003lrc.3	Q86YN6	OTTHUMG00000130055	ENST00000309241.5:c.939C>G	5.37:g.149212575C>G						PPARGC1B_ENST00000360453.4_Silent_p.P274P|PPARGC1B_ENST00000403750.1_Silent_p.P249P|PPARGC1B_ENST00000394320.3_Silent_p.P313P	p.P313P	NM_133263.3	NP_573570.3	Q86YN6	PRGC2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		5	971	+			313					A2RUM8|A2RUN0|B3KVW0|Q86YN3|Q86YN4|Q86YN5|Q8N1N9|Q8TDE4|Q8TDE5	Silent	SNP	ENST00000309241.5	37	c.939C>G	CCDS4298.1																																																																																				0.627	PPARGC1B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252334.1	NM_133263		8	73	0	0	0	1	0	8	73					G	149212575	C	G	149212575	2	3	290	1	0	0	0	0	0	0	0	1	12301	581	21	5		5	PPARGC1B	5	149212575	Silent	SNP	C	TCGA-J9-A8CL-01A-11D-A34U-08	8429104	149212575	31702685	31	13969											
DPPA5	340168	broad.mit.edu	37	chr6	74063588	74063588	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cctctcacctcgctcctggcGctggcggtgccactcagcca	4	8	10	19	3	2	0	2	0	1	0	5	0	3	0	5	3	2	2	5	3	0	0			TCGA-J9-A8CL-01A-11D-A34U-08	TCGA-J9-A8CL-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1f9f2e-7a09-4e2d-bb99-c881a34a8da2	e5a23b9d-18a0-4cb4-8743-3d53fc3c45b4	g.chr6:74063588G>A	ENST00000370370.3	-	2	349	c.280C>T	c.(280-282)Cgc>Tgc	p.R94C		NM_001025290.2	NP_001020461.1	A6NC42	DPPA5_HUMAN	developmental pluripotency associated 5	94					multicellular organismal development (GO:0007275)	cytoplasm (GO:0005737)	RNA binding (GO:0003723)			NS(1)|endometrium(1)|lung(5)	7						CGCTCCTGGCGCTGGCGGTGC	0.632																																						ENST00000370370.3																			0				NS(1)|endometrium(1)|lung(5)	7						c.(280-282)Cgc>Tgc		developmental pluripotency associated 5							27	26	27					6																	74063588		2203	4300	6503	SO:0001583	missense	340168				multicellular organismal development	cytoplasm	RNA binding	g.chr6:74063588G>A		CCDS34483.1	6q13	2014-01-28			ENSG00000203909	ENSG00000203909			19201	protein-coding gene	gene with protein product		611111					Standard	NM_001025290		Approved	Esg1	uc003pgs.2	A6NC42	OTTHUMG00000015025	ENST00000370370.3:c.280C>T	6.37:g.74063588G>A	ENSP00000359396:p.Arg94Cys						p.R94C	NM_001025290.2	NP_001020461.1	A6NC42	DPPA5_HUMAN			2	349	-			94					B2RPQ7	Missense_Mutation	SNP	ENST00000370370.3	37	c.280C>T	CCDS34483.1	.	.	.	.	.	.	.	.	.	.	G	10.41	1.343575	0.24339	.	.	ENSG00000203909	ENST00000370370	T	0.12569	2.67	3.74	1.89	0.25635	.	0.382253	0.19282	N	0.118133	T	0.07908	0.0198	L	0.52364	1.645	0.22280	N	0.999236	D	0.71674	0.998	P	0.50754	0.649	T	0.15521	-1.0434	10	0.39692	T	0.17	.	8.6384	0.33962	0.0:0.0:0.5839:0.4161	.	94	A6NC42	DPPA5_HUMAN	C	94	ENSP00000359396:R94C	ENSP00000359396:R94C	R	-	1	0	DPPA5	74120309	0.913000	0.31002	0.315000	0.25238	0.023000	0.10783	1.196000	0.32198	0.529000	0.28599	0.491000	0.48974	CGC		0.632	DPPA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041203.3	NM_001025290		5	21	0	0	0	1	0	5	21					A	74063588	G	A	74063588	3	1	290	1	0	0	0	0	1	0	0	0	4737	1087	38	1	78	1	DPPA5	6	74063588	Missense_Mutation	SNP	G	TCGA-J9-A8CL-01A-11D-A34U-08		74063588	97051479	32	13970											
THEMIS	387357	broad.mit.edu	37	chr6	128134112	128134112	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcctctactgaggggtgtttCggagggcgaggtgggggatg	5	10	20	6	2	1	1	0	1	1	0	3	4	2	3	1	7	1	1	1	7	1	2			TCGA-J9-A8CL-01A-11D-A34U-08	TCGA-J9-A8CL-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1f9f2e-7a09-4e2d-bb99-c881a34a8da2	e5a23b9d-18a0-4cb4-8743-3d53fc3c45b4	g.chr6:128134112C>T	ENST00000368248.2	-	4	1822	c.1674G>A	c.(1672-1674)ccG>ccA	p.P558P	THEMIS_ENST00000543064.1_Silent_p.P558P|THEMIS_ENST00000368250.1_Silent_p.P479P|THEMIS_ENST00000537166.1_Silent_p.P523P	NM_001010923.2	NP_001010923.1	Q8N1K5	THMS1_HUMAN	thymocyte selection associated	558					negative T cell selection (GO:0043383)|positive T cell selection (GO:0043368)|T cell receptor signaling pathway (GO:0050852)	cell-cell junction (GO:0005911)|COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(3)	60						AGGGGTGTTTCGGAGGGCGAG	0.483																																						ENST00000368250.1																			0				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(3)	60						c.(1435-1437)ccG>ccA		thymocyte selection associated							116	119	118					6																	128134112		2203	4300	6503	SO:0001819	synonymous_variant	387357				negative T cell selection|positive T cell selection|T cell receptor signaling pathway	cytoplasm|nucleus		g.chr6:128134112C>T	AK094863	CCDS34534.1, CCDS55055.1	6q22.33	2012-02-08	2009-06-25	2009-06-25	ENSG00000172673	ENSG00000172673			21569	protein-coding gene	gene with protein product	"thymocyte expressed molecule involved in selection"	613607	"chromosome 6 open reading frame 207", "chromosome 6 open reading frame 190", "thymocyte selection pathway associated"	C6orf207, C6orf190, TSEPA		19597499, 19597498, 19597497	Standard	NM_001010923		Approved	bA325O24.4, FLJ40584, bA325O24.3	uc011ebt.2	Q8N1K5	OTTHUMG00000015534	ENST00000368248.2:c.1674G>A	6.37:g.128134112C>T						THEMIS_ENST00000368248.2_Silent_p.P558P|THEMIS_ENST00000543064.1_Silent_p.P558P|THEMIS_ENST00000537166.1_Silent_p.P523P	p.P479P			Q8N1K5	THMS1_HUMAN			5	1935	-			558			CABIT 2.		A1L4F0|A8K7N1|B3KT31|B3KW32|B3KY07|F5H1J9|Q5T3C4|Q5T3C5|Q6MZT7	Silent	SNP	ENST00000368248.2	37	c.1437G>A	CCDS34534.1																																																																																				0.483	THEMIS-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		NM_001010923		37	71	0	0	0	1	0	37	71					T	128134112	C	T	128134112	2	4	290	1	0	0	0	0	0	0	0	1	15857	871	31	2		2	THEMIS	6	128134112	Silent	SNP	C	TCGA-J9-A8CL-01A-11D-A34U-08	54070524	128134112	42980955	33	13971											
SYNE1	23345	broad.mit.edu	37	chr6	152576788	152576788	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgctgtggcaacaaataaacGttcttcaacgtcatccaacc	13	10	6	12	2	3	0	2	0	1	0	4	0	4	0	2	1	5	3	2	1	6	3			TCGA-J9-A8CL-01A-11D-A34U-08	TCGA-J9-A8CL-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1f9f2e-7a09-4e2d-bb99-c881a34a8da2	e5a23b9d-18a0-4cb4-8743-3d53fc3c45b4	g.chr6:152576788G>A	ENST00000367255.5	-	103	19799	c.19198C>T	c.(19198-19200)Cgt>Tgt	p.R6400C	SYNE1_ENST00000448038.1_Missense_Mutation_p.R6329C|SYNE1_ENST00000356820.4_Missense_Mutation_p.R924C|SYNE1_ENST00000341594.5_Missense_Mutation_p.R6012C|SYNE1_ENST00000265368.4_Missense_Mutation_p.R6400C|SYNE1_ENST00000423061.1_Missense_Mutation_p.R6329C	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	6400					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		ACAAATAAACGTTCTTCAACG	0.448										HNSCC(10;0.0054)																												ENST00000367255.5																			0				NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524						c.(19198-19200)Cgt>Tgt		spectrin repeat containing, nuclear envelope 1							164	138	147					6																	152576788		2203	4300	6503	SO:0001583	missense	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152576788G>A	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"myocyte nuclear envelope protein 1", "nuclear envelope spectrin repeat-1"	608441	"chromosome 6 open reading frame 98"	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.19198C>T	6.37:g.152576788G>A	ENSP00000356224:p.Arg6400Cys	HNSCC(10;0.0054)				SYNE1_ENST00000423061.1_Missense_Mutation_p.R6329C|SYNE1_ENST00000356820.4_Missense_Mutation_p.R924C|SYNE1_ENST00000448038.1_Missense_Mutation_p.R6329C|SYNE1_ENST00000265368.4_Missense_Mutation_p.R6400C|SYNE1_ENST00000341594.5_Missense_Mutation_p.R6012C	p.R6400C	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	103	19799	-		Ovarian(120;0.0955)	6400					E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	c.19198C>T	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	G	21.9	4.212366	0.79240	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000356820	T;T;T;T;T;T	0.55234	0.62;0.61;0.53;0.61;0.72;2.64	5.17	5.17	0.71159	.	0.334601	0.25555	N	0.029864	T	0.37544	0.1007	N	0.08118	0	0.39420	D	0.9669	D;D;D	0.64830	0.98;0.98;0.994	P;P;P	0.52856	0.517;0.517;0.711	T	0.51926	-0.8643	10	0.66056	D	0.02	.	19.0414	0.93000	0.0:0.0:1.0:0.0	.	6400;6400;6329	Q8NF91;E7EQI5;Q8NF91-4	SYNE1_HUMAN;.;.	C	6400;6329;6400;6329;6012;924	ENSP00000356224:R6400C;ENSP00000396024:R6329C;ENSP00000265368:R6400C;ENSP00000390975:R6329C;ENSP00000341887:R6012C;ENSP00000349276:R924C	ENSP00000265368:R6400C	R	-	1	0	SYNE1	152618481	0.924000	0.31332	0.896000	0.35187	0.993000	0.82548	4.230000	0.58632	2.579000	0.87056	0.655000	0.94253	CGT		0.448	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		9	72	0	0	0	1	0	9	72					A	152576788	G	A	152576788	3	1	290	1	0	0	0	0	1	0	0	0	15442	1145	40	1	7444	1	SYNE1	6	152576788	Missense_Mutation	SNP	G	TCGA-J9-A8CL-01A-11D-A34U-08	24442676	152576788	18538279	34	13972											
CACNA2D1	781	broad.mit.edu	37	chr7	81714091	81714091	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cactaagcacctacctggatAatatcgagctaggccagtgg	12	8	10	11	1	0	0	0	0	0	0	1	2	0	1	3	3	3	2	3	3	5	5			TCGA-J9-A8CL-01A-11D-A34U-08	TCGA-J9-A8CL-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1f9f2e-7a09-4e2d-bb99-c881a34a8da2	e5a23b9d-18a0-4cb4-8743-3d53fc3c45b4	g.chr7:81714091A>C	ENST00000356253.5	-	7	907	c.652T>G	c.(652-654)Tat>Gat	p.Y218D	CACNA2D1_ENST00000356860.3_Missense_Mutation_p.Y218D|CACNA2D1_ENST00000423588.1_Missense_Mutation_p.Y218D			P54289	CA2D1_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 1	218					calcium ion transport (GO:0006816)|regulation of calcium ion transport (GO:0051924)	extracellular vesicular exosome (GO:0070062)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)|voltage-gated calcium channel complex (GO:0005891)	metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	81					Amlodipine(DB00381)|Cyclandelate(DB04838)|Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)	CTACCTGGATAATATCGAGCT	0.418																																						ENST00000356860.3																			0				breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	81						c.(652-654)Tat>Gat		calcium channel, voltage-dependent, alpha 2/delta subunit 1	Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)						96	94	95					7																	81714091		2203	4300	6503	SO:0001583	missense	781					voltage-gated calcium channel complex	metal ion binding	g.chr7:81714091A>C	M76559	CCDS5598.1	7q21-q22	2014-09-17			ENSG00000153956	ENSG00000153956		"Calcium channel subunits"	1399	protein-coding gene	gene with protein product		114204	"long intergenic non-protein coding RNA 1112"	CACNL2A, CACNA2, MHS3, LINC01112		8188232	Standard	XM_005250570		Approved	lncRNA-N3	uc003uhr.1	P54289	OTTHUMG00000023622	ENST00000356253.5:c.652T>G	7.37:g.81714091A>C	ENSP00000348589:p.Tyr218Asp					CACNA2D1_ENST00000423588.1_Missense_Mutation_p.Y218D|CACNA2D1_ENST00000356253.5_Missense_Mutation_p.Y218D	p.Y218D	NM_000722.2	NP_000713.2	P54289	CA2D1_HUMAN			7	990	-			218					Q17R45|Q9UD80|Q9UD81|Q9UD82	Missense_Mutation	SNP	ENST00000356253.5	37	c.652T>G		.	.	.	.	.	.	.	.	.	.	A	25.1	4.607614	0.87157	.	.	ENSG00000153956	ENST00000356860;ENST00000284088;ENST00000356253;ENST00000423588	T;T;T	0.51574	1.97;1.97;0.7	5.82	5.82	0.92795	.	0.118493	0.64402	D	0.000014	T	0.73110	0.3545	M	0.87097	2.86	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	T	0.78575	-0.2151	10	0.87932	D	0	-19.5442	15.8494	0.78916	1.0:0.0:0.0:0.0	.	218	P54289-2	.	D	218	ENSP00000349320:Y218D;ENSP00000348589:Y218D;ENSP00000405395:Y218D	ENSP00000284088:Y218D	Y	-	1	0	CACNA2D1	81552027	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	9.160000	0.94734	2.216000	0.71823	0.528000	0.53228	TAT		0.418	CACNA2D1-201	KNOWN	basic	protein_coding	protein_coding				19	35	0	0	0	1	0	19	35					C	81714091	A	C	81714091	3	2	290	1	0	0	0	0	1	0	0	0	2548	362	13	5	2755	5	CACNA2D1	7	81714091	Missense_Mutation	SNP	A	TCGA-J9-A8CL-01A-11D-A34U-08		81714091	77424572	35	13973											
MUC17	140453	broad.mit.edu	37	chr7	100676261	100676261	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gtatgtctgtcagcaccatgCcggtggccagttctgaggct	6	11	13	11	1	3	1	1	1	2	0	3	1	3	1	3	3	2	4	3	3	1	2			TCGA-J9-A8CL-01A-11D-A34U-08	TCGA-J9-A8CL-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1f9f2e-7a09-4e2d-bb99-c881a34a8da2	e5a23b9d-18a0-4cb4-8743-3d53fc3c45b4	g.chr7:100676261C>A	ENST00000306151.4	+	3	1628	c.1564C>A	c.(1564-1566)Ccg>Acg	p.P522T		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	522	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CAGCACCATGCCGGTGGCCAG	0.498																																						ENST00000306151.4																			0				NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343						c.(1564-1566)Ccg>Acg		mucin 17, cell surface associated							350	355	353					7																	100676261		2203	4300	6503	SO:0001583	missense	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100676261C>A	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"Mucins"	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.1564C>A	7.37:g.100676261C>A	ENSP00000302716:p.Pro522Thr						p.P522T	NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN			3	1628	+	Lung NSC(181;0.136)|all_lung(186;0.182)		522			59 X approximate tandem repeats.|Ser-rich.		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	c.1564C>A	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	C	0.617	-0.822767	0.02755	.	.	ENSG00000169876	ENST00000306151	T	0.03212	4.01	1.1	-2.2	0.06994	.	.	.	.	.	T	0.01940	0.0061	N	0.24115	0.695	0.09310	N	1	B	0.21225	0.053	B	0.11329	0.006	T	0.48592	-0.9022	9	0.08179	T	0.78	.	2.9111	0.05737	0.2138:0.4637:0.0:0.3225	.	522	Q685J3	MUC17_HUMAN	T	522	ENSP00000302716:P522T	ENSP00000302716:P522T	P	+	1	0	MUC17	100462981	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.798000	0.01747	-0.972000	0.03559	0.501000	0.49751	CCG		0.498	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		8	744	1	0	1.12685e-05	1	1.25206e-05	8	744					A	100676261	C	A	100676261	3	1	290	1	0	0	0	0	1	0	0	0	9974	739	26	5	1574	5	MUC17	7	100676261	Missense_Mutation	SNP	C	TCGA-J9-A8CL-01A-11D-A34U-08	18962170	100676261	58462402	36	13974											
GRM8	2918	broad.mit.edu	37	chr7	126086370	126086370	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcatatagagcatgcccagAgatactgaagcacttaaact	15	8	9	9	0	0	3	0	1	0	2	0	4	0	3	1	1	5	3	1	1	6	4			TCGA-J9-A8CL-01A-11D-A34U-08	TCGA-J9-A8CL-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1f9f2e-7a09-4e2d-bb99-c881a34a8da2	e5a23b9d-18a0-4cb4-8743-3d53fc3c45b4	g.chr7:126086370A>T	ENST00000339582.2	-	10	3295	c.2487T>A	c.(2485-2487)tcT>tcA	p.S829S	GRM8_ENST00000444921.2_Silent_p.S829S|GRM8_ENST00000358373.3_Silent_p.S829S			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	829					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|negative regulation of cAMP biosynthetic process (GO:0030818)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of smell (GO:0007608)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)				GCATGCCCAGAGATACTGAAG	0.398										HNSCC(24;0.065)																												ENST00000339582.2																			0				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125						c.(2485-2487)tcT>tcA		glutamate receptor, metabotropic 8	L-Glutamic Acid(DB00142)						62	61	61					7																	126086370		2203	4300	6503	SO:0001819	synonymous_variant	0				negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane		g.chr7:126086370A>T		CCDS5794.1, CCDS47696.1	7q31.3-q32.1	2012-08-29			ENSG00000179603	ENSG00000179603		"GPCR / Class C : Glutamate receptors, metabotropic", "Glutamate receptors"	4600	protein-coding gene	gene with protein product		601116				8824806	Standard	NM_000845		Approved	GLUR8, GPRC1H, mGlu8, MGLUR8	uc003vlr.2	O00222	OTTHUMG00000022888	ENST00000339582.2:c.2487T>A	7.37:g.126086370A>T		HNSCC(24;0.065)				GRM8_ENST00000444921.2_Silent_p.S829S|GRM8_ENST00000358373.3_Silent_p.S829S	p.S829S			O00222	GRM8_HUMAN			10	3295	-		Prostate(267;0.186)	829					A4D0Y3|B0FZ74|B0M0L0|O15493|O95945|O95946|Q3MIV9|Q52M02|Q6J165	Silent	SNP	ENST00000339582.2	37	c.2487T>A	CCDS5794.1																																																																																				0.398	GRM8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059209.4			30	49	0	0	0	1	0	30	49					T	126086370	A	T	126086370	2	4	290	1	0	0	0	0	0	0	0	1	6803	291	11	5		5	GRM8	7	126086370	Silent	SNP	A	TCGA-J9-A8CL-01A-11D-A34U-08	25410109	126086370	33052293	37	13975											
MLL3	58508	broad.mit.edu	37	chr7	151855999	151855999	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gagtacatagcttgtttctcCtcttcgtcctttttcctttt	4	21	5	11	1	2	0	0	0	2	0	6	1	4	0	3	0	2	3	3	0	2	9			TCGA-J9-A8CL-01A-11D-A34U-08	TCGA-J9-A8CL-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1f9f2e-7a09-4e2d-bb99-c881a34a8da2	e5a23b9d-18a0-4cb4-8743-3d53fc3c45b4	g.chr7:151855999C>T	ENST00000262189.6	-	44	11837	c.11619G>A	c.(11617-11619)gaG>gaA	p.E3873E	KMT2C_ENST00000355193.2_Silent_p.E3873E	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	3873					histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										CTTGTTTCTCCTCTTCGTCCT	0.458																																						ENST00000355193.2																			0											c.(11617-11619)gaG>gaA		lysine (K)-specific methyltransferase 2C							399	363	375					7																	151855999		2203	4300	6503	SO:0001819	synonymous_variant	58508							g.chr7:151855999C>T	AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	13726	protein-coding gene	gene with protein product		606833	"myeloid/lymphoid or mixed-lineage leukemia 3"	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.11619G>A	7.37:g.151855999C>T						KMT2C_ENST00000262189.6_Silent_p.E3873E	p.E3873E							44	11837	-								Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Silent	SNP	ENST00000262189.6	37	c.11619G>A	CCDS5931.1	.	.	.	.	.	.	.	.	.	.	C	8.879	0.951098	0.18431	.	.	ENSG00000055609	ENST00000360104	.	.	.	5.56	4.68	0.58851	.	.	.	.	.	T	0.63058	0.2479	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.61667	-0.7016	4	.	.	.	.	11.4822	0.50333	0.0:0.8438:0.0:0.1562	.	.	.	.	R	1379	.	.	G	-	1	0	MLL3	151486932	0.380000	0.25131	1.000000	0.80357	0.951000	0.60555	-0.585000	0.05794	1.495000	0.48549	-0.229000	0.12294	GGA		0.458	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3			55	227	0	0	0	1	0	55	227					T	151855999	C	T	151855999	2	4	290	1	0	0	0	0	0	0	0	1	9622	680	24	3		3	MLL3	7	151855999	Silent	SNP	C	TCGA-J9-A8CL-01A-11D-A34U-08	25769629	151855999	7282664	38	13976											
PKHD1L1	93035	broad.mit.edu	37	chr8	110412425	110412425	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cagttgggtagattcagcttCctatatttggctcatggaac	9	14	10	8	0	2	1	2	0	0	1	3	2	3	2	1	3	2	4	1	3	4	7			TCGA-J9-A8CL-01A-11D-A34U-08	TCGA-J9-A8CL-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1f9f2e-7a09-4e2d-bb99-c881a34a8da2	e5a23b9d-18a0-4cb4-8743-3d53fc3c45b4	g.chr8:110412425C>A	ENST00000378402.5	+	13	1237	c.1133C>A	c.(1132-1134)tCc>tAc	p.S378Y		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	378					immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			GATTCAGCTTCCTATATTTGG	0.423										HNSCC(38;0.096)																												ENST00000378402.5																			0				NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263						c.(1132-1134)tCc>tAc		polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1							368	357	361					8																	110412425		1888	4106	5994	SO:0001583	missense	93035				immune response	cytosol|extracellular space|integral to membrane	receptor activity	g.chr8:110412425C>A	AY219181	CCDS47911.1	8q23	2003-03-28			ENSG00000205038	ENSG00000205038			20313	protein-coding gene	gene with protein product		607843				12620974	Standard	NM_177531		Approved		uc003yne.3	Q86WI1	OTTHUMG00000164934	ENST00000378402.5:c.1133C>A	8.37:g.110412425C>A	ENSP00000367655:p.Ser378Tyr	HNSCC(38;0.096)					p.S378Y	NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)		13	1237	+			378					Q567P2|Q9UF27	Missense_Mutation	SNP	ENST00000378402.5	37	c.1133C>A	CCDS47911.1	.	.	.	.	.	.	.	.	.	.	C	15.21	2.766348	0.49574	.	.	ENSG00000205038	ENST00000378402	T	0.24350	1.86	5.32	3.49	0.39957	PA14 (1);	0.077494	0.53938	D	0.000051	T	0.28532	0.0706	L	0.55743	1.74	0.29908	N	0.823843	B	0.25850	0.136	B	0.32805	0.153	T	0.25187	-1.0139	10	0.66056	D	0.02	.	12.4059	0.55439	0.3062:0.6938:0.0:0.0	.	378	Q86WI1	PKHL1_HUMAN	Y	378	ENSP00000367655:S378Y	ENSP00000367655:S378Y	S	+	2	0	PKHD1L1	110481601	0.995000	0.38212	0.991000	0.47740	0.404000	0.30871	4.171000	0.58236	0.587000	0.29643	-0.311000	0.09066	TCC		0.423	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381017.1	NM_177531		19	350	1	0	1.28384e-07	1	1.44432e-07	19	350					A	110412425	C	A	110412425	3	1	290	1	0	0	0	0	1	0	0	0	11972	855	30	5	1183	5	PKHD1L1	8	110412425	Missense_Mutation	SNP	C	TCGA-J9-A8CL-01A-11D-A34U-08		110412425	35951597	39	13977											
FAM49B	51571	broad.mit.edu	37	chr8	130867925	130867925	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tttagcaagagcctgctctcGctctagatgctgggtgggag	7	11	14	9	1	2	2	0	0	2	2	3	3	2	3	1	2	4	4	1	2	3	3			TCGA-J9-A8CL-01A-11D-A34U-08	TCGA-J9-A8CL-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1f9f2e-7a09-4e2d-bb99-c881a34a8da2	e5a23b9d-18a0-4cb4-8743-3d53fc3c45b4	g.chr8:130867925G>T	ENST00000519824.2	-	6	643	c.370C>A	c.(370-372)Cga>Aga	p.R124R	FAM49B_ENST00000522250.1_5'UTR|FAM49B_ENST00000401979.2_Silent_p.R124R|FAM49B_ENST00000523509.1_Silent_p.R124R|FAM49B_ENST00000517654.1_Silent_p.R124R|FAM49B_ENST00000518879.1_5'UTR|FAM49B_ENST00000519540.1_Silent_p.R124R|FAM49B_ENST00000522746.1_Silent_p.R124R|FAM49B_ENST00000522941.1_5'UTR|FAM49B_ENST00000519110.1_Silent_p.R124R	NM_016623.4	NP_057707.3	Q9NUQ9	FA49B_HUMAN	family with sequence similarity 49, member B	124						cilium (GO:0005929)|extracellular vesicular exosome (GO:0070062)		p.R124*(1)		kidney(1)|large_intestine(6)|lung(4)|prostate(1)	12	Ovarian(5;0.000567)|Esophageal squamous(12;0.00693)|Acute lymphoblastic leukemia(118;0.155)		LUAD - Lung adenocarcinoma(14;0.0989)			GCCTGCTCTCGCTCTAGATGC	0.398																																						ENST00000519824.2																			1	Substitution - Nonsense(1)	p.R124*(1)	large_intestine(1)	kidney(1)|large_intestine(6)|lung(4)|prostate(1)	12						c.(370-372)Cga>Aga		family with sequence similarity 49, member B							86	89	88					8																	130867925		2203	4300	6503	SO:0001819	synonymous_variant	51571							g.chr8:130867925G>T	AF208851	CCDS6361.1	8q24	2004-08-20				ENSG00000153310			25216	protein-coding gene	gene with protein product							Standard	NM_001256763		Approved	BM-009	uc003ysu.4	Q9NUQ9		ENST00000519824.2:c.370C>A	8.37:g.130867925G>T						FAM49B_ENST00000519540.1_Silent_p.R124R|FAM49B_ENST00000517654.1_Silent_p.R124R|FAM49B_ENST00000519110.1_Silent_p.R124R|FAM49B_ENST00000518879.1_5'UTR|FAM49B_ENST00000522250.1_5'UTR|FAM49B_ENST00000523509.1_Silent_p.R124R|FAM49B_ENST00000522746.1_Silent_p.R124R|FAM49B_ENST00000522941.1_5'UTR|FAM49B_ENST00000401979.2_Silent_p.R124R	p.R124R	NM_016623.4	NP_057707.3	Q9NUQ9	FA49B_HUMAN	LUAD - Lung adenocarcinoma(14;0.0989)		6	643	-	Ovarian(5;0.000567)|Esophageal squamous(12;0.00693)|Acute lymphoblastic leukemia(118;0.155)		124					Q96AZ5|Q9NW21|Q9NZE7	Silent	SNP	ENST00000519824.2	37	c.370C>A	CCDS6361.1	.	.	.	.	.	.	.	.	.	.	G	10.93	1.489853	0.26686	.	.	ENSG00000153310	ENST00000311292	.	.	.	6.16	6.16	0.99307	.	.	.	.	.	T	0.48589	0.1508	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.35025	-0.9805	5	0.02654	T	1	-3.992	19.848	0.96722	0.0:0.0:1.0:0.0	.	.	.	.	E	78	.	ENSP00000311651:A78E	A	-	2	0	FAM49B	130937107	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.004000	0.88535	2.937000	0.99478	0.650000	0.86243	GCG		0.398	FAM49B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380390.2	NM_016623		4	120	1	0	0.000602214	1	0.00064523	4	120					T	130867925	G	T	130867925	2	4	290	1	0	0	0	0	0	0	0	1	5576	1095	38	5		5	FAM49B	8	130867925	Silent	SNP	G	TCGA-J9-A8CL-01A-11D-A34U-08	20455500	130867925	15496097	40	13978											
TRAPPC9	83696	broad.mit.edu	37	chr8	141310581	141310581	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	gtcctacctattttcttgttCcgctcttctccacggttgtg	3	18	7	13	2	3	0	0	0	3	0	6	0	5	0	4	1	1	3	4	1	2	8			TCGA-J9-A8CL-01A-11D-A34U-08	TCGA-J9-A8CL-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1f9f2e-7a09-4e2d-bb99-c881a34a8da2	e5a23b9d-18a0-4cb4-8743-3d53fc3c45b4	g.chr8:141310581C>G	ENST00000438773.2	-	11	1888	c.1755G>C	c.(1753-1755)cgG>cgC	p.R585R	TRAPPC9_ENST00000389328.4_Silent_p.R683R|TRAPPC9_ENST00000389327.3_Silent_p.R576R	NM_001160372.1	NP_001153844.1	Q96Q05	TPPC9_HUMAN	trafficking protein particle complex 9	585					cell differentiation (GO:0030154)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)				breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	47						TTTTCTTGTTCCGCTCTTCTC	0.463																																						ENST00000389328.4																			0				breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	47						c.(2047-2049)cgG>cgC		trafficking protein particle complex 9							293	224	248					8																	141310581		2203	4300	6503	SO:0001819	synonymous_variant	83696				cell differentiation	endoplasmic reticulum|Golgi apparatus		g.chr8:141310581C>G	BC006206	CCDS34946.1, CCDS55278.1	8q24.3	2010-10-22			ENSG00000167632	ENSG00000167632		"Trafficking protein particle complex"	30832	protein-coding gene	gene with protein product	"TRAPP 120 kDa subunit", "tularik gene 1"	611966				11572484	Standard	NM_031466		Approved	IKBKBBP, NIBP, KIAA1882, T1, TRS120, MRT13	uc003yvh.2	Q96Q05	OTTHUMG00000164187	ENST00000438773.2:c.1755G>C	8.37:g.141310581C>G						TRAPPC9_ENST00000389327.3_Silent_p.R576R|TRAPPC9_ENST00000438773.2_Silent_p.R585R	p.R683R	NM_031466.5	NP_113654.4	Q96Q05	TPPC9_HUMAN			11	2063	-			585					Q4VTT3|Q658K7|Q6P149|Q6ZQT3|Q7L5C4|Q86Y21|Q96SL2|Q9BQA2	Silent	SNP	ENST00000438773.2	37	c.2049G>C	CCDS55278.1	.	.	.	.	.	.	.	.	.	.	C	8.587	0.883609	0.17467	.	.	ENSG00000167632	ENST00000520857	.	.	.	5.66	-9.5	0.00584	.	.	.	.	.	T	0.47948	0.1473	.	.	.	0.40525	D	0.980873	.	.	.	.	.	.	T	0.57906	-0.7730	4	.	.	.	.	9.8349	0.40963	0.1561:0.1651:0.6021:0.0767	.	.	.	.	Q	429	.	.	E	-	1	0	TRAPPC9	141379763	0.000000	0.05858	0.000000	0.03702	0.985000	0.73830	-0.619000	0.05572	-1.857000	0.01159	-0.150000	0.13652	GAA		0.463	TRAPPC9-002	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000377749.1	NM_031466		3	63	0	0	0	1	0	3	63					G	141310581	C	G	141310581	2	3	290	1	0	0	0	0	0	0	0	1	16462	842	30	5		5	TRAPPC9	8	141310581	Silent	SNP	C	TCGA-J9-A8CL-01A-11D-A34U-08	10442656	141310581	5053441	41	13979											
PBX3	5090	broad.mit.edu	37	chr9	128724390	128724390	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ttcctttccaggttcttctgGttcttttaacctcccaaatt	6	19	4	12	0	3	0	0	0	3	0	6	0	6	0	4	2	1	2	4	2	2	8			TCGA-J9-A8CL-01A-11D-A34U-08	TCGA-J9-A8CL-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1f9f2e-7a09-4e2d-bb99-c881a34a8da2	e5a23b9d-18a0-4cb4-8743-3d53fc3c45b4	g.chr9:128724390G>A	ENST00000373489.5	+	7	1035	c.1019G>A	c.(1018-1020)gGt>gAt	p.G340D	PBX3_ENST00000373483.2_Missense_Mutation_p.G159D|PBX3_ENST00000538998.1_Intron|PBX3_ENST00000373487.4_Missense_Mutation_p.G361D|PBX3_ENST00000447726.2_Missense_Mutation_p.G265D|PBX3_ENST00000342287.5_Intron	NM_006195.5	NP_006186.1	P40426	PBX3_HUMAN	pre-B-cell leukemia homeobox 3	340					adult locomotory behavior (GO:0008344)|anterior compartment pattern formation (GO:0007387)|dorsal spinal cord development (GO:0021516)|neuron development (GO:0048666)|posterior compartment specification (GO:0007388)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|respiratory gaseous exchange (GO:0007585)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			biliary_tract(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|skin(1)|upper_aerodigestive_tract(2)	24						GGTTCTTCTGGTTCTTTTAAC	0.443																																						ENST00000373487.4																			0				biliary_tract(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|skin(1)|upper_aerodigestive_tract(2)	24						c.(1081-1083)gGt>gAt		pre-B-cell leukemia homeobox 3							103	87	92					9																	128724390		2203	4300	6503	SO:0001583	missense	5090				anterior compartment pattern formation|posterior compartment specification		sequence-specific DNA binding transcription factor activity	g.chr9:128724390G>A		CCDS6865.1, CCDS48021.1	9q33.3	2011-06-20	2007-01-30		ENSG00000167081	ENSG00000167081		"Homeoboxes / TALE class"	8634	protein-coding gene	gene with protein product		176312	"pre-B-cell leukemia transcription factor 3"			1682799	Standard	NM_006195		Approved		uc004bqb.3	P40426	OTTHUMG00000020684	ENST00000373489.5:c.1019G>A	9.37:g.128724390G>A	ENSP00000362588:p.Gly340Asp					PBX3_ENST00000447726.2_Missense_Mutation_p.G265D|PBX3_ENST00000373483.2_Missense_Mutation_p.G159D|PBX3_ENST00000373489.5_Missense_Mutation_p.G340D|PBX3_ENST00000342287.5_Intron|PBX3_ENST00000538998.1_Intron	p.G361D			P40426	PBX3_HUMAN			8	1162	+			340					E9PB27|Q5JSA0|Q5JSA1|Q5VXL3|Q96PF9|Q96PG0	Missense_Mutation	SNP	ENST00000373489.5	37	c.1082G>A	CCDS6865.1	.	.	.	.	.	.	.	.	.	.	G	16.12	3.033197	0.54896	.	.	ENSG00000167081	ENST00000373489;ENST00000373487;ENST00000373483;ENST00000447726	D;T;D;D	0.89746	-2.33;1.77;-2.52;-2.56	5.73	4.83	0.62350	.	0.117692	0.56097	D	0.000021	D	0.89876	0.6842	M	0.66939	2.045	0.80722	D	1	P;P	0.46020	0.766;0.871	B;P	0.46452	0.424;0.517	D	0.90511	0.4481	10	0.66056	D	0.02	.	14.758	0.69583	0.0694:0.0:0.9306:0.0	.	361;340	Q5JS98;P40426	.;PBX3_HUMAN	D	340;361;159;265	ENSP00000362588:G340D;ENSP00000362586:G361D;ENSP00000362582:G159D;ENSP00000387456:G265D	ENSP00000362582:G159D	G	+	2	0	PBX3	127764211	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.471000	0.97696	1.418000	0.47098	-0.145000	0.13849	GGT		0.443	PBX3-006	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417765.1			7	23	0	0	0	1	0	7	23					A	128724390	G	A	128724390	3	1	290	1	0	0	0	0	1	0	0	0	11494	1261	44	3	1045	3	PBX3	9	128724390	Missense_Mutation	SNP	G	TCGA-J9-A8CL-01A-11D-A34U-08		128724390	12489041	42	13980											
CARD9	64170	broad.mit.edu	37	chr9	139265071	139265071	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggctgggccgctgctccatgGcgtgcctgagcttcagcgtg	3	9	16	13	3	1	1	1	1	0	0	2	1	2	1	3	3	4	4	3	3	0	1			TCGA-J9-A8CL-01A-11D-A34U-08	TCGA-J9-A8CL-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1f9f2e-7a09-4e2d-bb99-c881a34a8da2	e5a23b9d-18a0-4cb4-8743-3d53fc3c45b4	g.chr9:139265071G>C	ENST00000371732.5	-	5	875	c.710C>G	c.(709-711)gCc>gGc	p.A237G	CARD9_ENST00000371734.3_Missense_Mutation_p.A237G|CARD9_ENST00000315908.7_Missense_Mutation_p.A237G|CARD9_ENST00000460290.1_5'Flank	NM_052813.4	NP_434700.2	Q9H257	CARD9_HUMAN	caspase recruitment domain family, member 9	237					defense response to Gram-positive bacterium (GO:0050830)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of JNK cascade (GO:0046330)|positive regulation of stress-activated MAPK cascade (GO:0032874)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of apoptotic process (GO:0042981)|regulation of interleukin-2 biosynthetic process (GO:0045076)|regulation of interleukin-6 biosynthetic process (GO:0045408)|regulation of tumor necrosis factor biosynthetic process (GO:0042534)|response to drug (GO:0042493)|response to exogenous dsRNA (GO:0043330)|response to fungus (GO:0009620)|response to muramyl dipeptide (GO:0032495)|response to peptidoglycan (GO:0032494)	cytoplasm (GO:0005737)	CARD domain binding (GO:0050700)|protein homodimerization activity (GO:0042803)			endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|pancreas(1)|prostate(3)|skin(1)	15		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;4.58e-06)|Epithelial(140;5.65e-06)		CTGCTCCATGGCGTGCCTGAG	0.652																																						ENST00000371732.5																			0				endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|pancreas(1)|prostate(3)|skin(1)	15						c.(709-711)gCc>gGc		caspase recruitment domain family, member 9							62	48	53					9																	139265071		2200	4299	6499	SO:0001583	missense	64170				positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of JNK cascade|positive regulation of stress-activated MAPK cascade|regulation of apoptosis	cytoplasm	CARD domain binding|protein homodimerization activity	g.chr9:139265071G>C	AF311287	CCDS6997.1, CCDS48057.1	9q34	2014-09-17			ENSG00000187796	ENSG00000187796			16391	protein-coding gene	gene with protein product		607212				11053425	Standard	NM_052813		Approved		uc004chg.3	Q9H257	OTTHUMG00000020925	ENST00000371732.5:c.710C>G	9.37:g.139265071G>C	ENSP00000360797:p.Ala237Gly					CARD9_ENST00000371734.3_Missense_Mutation_p.A237G|CARD9_ENST00000315908.7_Missense_Mutation_p.A237G	p.A237G	NM_052813.4	NP_434700.2	Q9H257	CARD9_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;4.58e-06)|Epithelial(140;5.65e-06)	5	875	-		Myeloproliferative disorder(178;0.0511)	237					Q5SXM5|Q5SXM6|Q9H854	Missense_Mutation	SNP	ENST00000371732.5	37	c.710C>G	CCDS6997.1	.	.	.	.	.	.	.	.	.	.	G	13.38	2.220625	0.39201	.	.	ENSG00000187796	ENST00000371734;ENST00000371732;ENST00000315908	T;T;T	0.35789	1.29;1.29;1.29	3.4	2.44	0.29823	.	0.155478	0.41097	D	0.000944	T	0.52964	0.1767	M	0.70275	2.135	0.48341	D	0.999639	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.73380	0.98;0.98;0.955	T	0.48681	-0.9014	10	0.27082	T	0.32	-19.0188	10.8687	0.46870	0.0:0.0:0.81:0.19	.	133;237;237	B4DIK5;Q9H257-2;Q9H257	.;.;CARD9_HUMAN	G	237	ENSP00000360799:A237G;ENSP00000360797:A237G;ENSP00000323719:A237G	ENSP00000323719:A237G	A	-	2	0	CARD9	138384892	1.000000	0.71417	0.987000	0.45799	0.866000	0.49608	2.328000	0.43867	0.697000	0.31718	0.467000	0.42956	GCC		0.652	CARD9-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055053.1	NM_052813		7	40	0	0	0	1	0	7	40					C	139265071	G	C	139265071	3	2	290	1	0	0	0	0	1	0	0	0	2652	1203	42	5	989	5	CARD9	9	139265071	Missense_Mutation	SNP	G	TCGA-J9-A8CL-01A-11D-A34U-08	10540681	139265071	1948360	43	13981											
GRIN1	2902	broad.mit.edu	37	chr9	140051399	140051399	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtggtggcccaggccgtgcAcgagctcctcgagaaggaga	8	5	16	12	4	0	2	0	0	0	2	2	5	1	2	3	4	2	2	3	4	1	0			TCGA-J9-A8CL-01A-11D-A34U-08	TCGA-J9-A8CL-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1f9f2e-7a09-4e2d-bb99-c881a34a8da2	e5a23b9d-18a0-4cb4-8743-3d53fc3c45b4	g.chr9:140051399A>T	ENST00000371561.3	+	6	1975	c.878A>T	c.(877-879)cAc>cTc	p.H293L	GRIN1_ENST00000471122.1_3'UTR|GRIN1_ENST00000371546.4_Missense_Mutation_p.H314L|GRIN1_ENST00000315048.3_Missense_Mutation_p.H293L|GRIN1_ENST00000371553.3_Missense_Mutation_p.H314L|GRIN1_ENST00000371560.3_Missense_Mutation_p.H314L|GRIN1_ENST00000371559.4_Missense_Mutation_p.H293L|GRIN1_ENST00000371555.4_Missense_Mutation_p.H314L|GRIN1_ENST00000350902.5_Missense_Mutation_p.H293L|GRIN1_ENST00000371550.4_Missense_Mutation_p.H293L	NM_007327.3	NP_015566.1	Q05586	NMDZ1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 1	293					adult locomotory behavior (GO:0008344)|calcium ion homeostasis (GO:0055074)|calcium ion transmembrane transport (GO:0070588)|cation transport (GO:0006812)|cellular calcium ion homeostasis (GO:0006874)|cellular response to manganese ion (GO:0071287)|cerebral cortex development (GO:0021987)|conditioned taste aversion (GO:0001661)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|long-term memory (GO:0007616)|male mating behavior (GO:0060179)|negative regulation of neuron apoptotic process (GO:0043524)|olfactory learning (GO:0008355)|pons maturation (GO:0021586)|positive regulation of apoptotic process (GO:0043065)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prepulse inhibition (GO:0060134)|propylene metabolic process (GO:0018964)|protein tetramerization (GO:0051262)|regulation of axonogenesis (GO:0050770)|regulation of dendrite morphogenesis (GO:0048814)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of membrane potential (GO:0042391)|regulation of respiratory gaseous exchange (GO:0043576)|regulation of synapse assembly (GO:0051963)|respiratory gaseous exchange (GO:0007585)|response to amphetamine (GO:0001975)|response to calcium ion (GO:0051592)|response to ethanol (GO:0045471)|response to fungicide (GO:0060992)|response to morphine (GO:0043278)|rhythmic process (GO:0048511)|sensory perception of pain (GO:0019233)|social behavior (GO:0035176)|suckling behavior (GO:0001967)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|visual learning (GO:0008542)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|dendrite membrane (GO:0032590)|dendritic spine (GO:0043197)|endoplasmic reticulum (GO:0005783)|excitatory synapse (GO:0060076)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)|synaptic cleft (GO:0043083)|synaptic vesicle (GO:0008021)|terminal bouton (GO:0043195)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate binding (GO:0016595)|glycine binding (GO:0016594)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|neurotransmitter binding (GO:0042165)|voltage-gated cation channel activity (GO:0022843)			NS(1)|breast(1)|endometrium(1)|kidney(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;6.87e-05)|Epithelial(140;0.00095)	Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Gabapentin(DB00996)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Orphenadrine(DB01173)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	CAGGCCGTGCACGAGCTCCTC	0.672																																					NSCLC(113;717 1653 2089 20474 37618)	ENST00000371561.3																			0				NS(1)|breast(1)|endometrium(1)|kidney(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						c.(877-879)cAc>cTc		glutamate receptor, ionotropic, N-methyl D-aspartate 1	L-Glutamic Acid(DB00142)|Orphenadrine(DB01173)						30	32	31					9																	140051399		2195	4292	6487	SO:0001583	missense	2902				ionotropic glutamate receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|regulation of excitatory postsynaptic membrane potential|response to ethanol|visual learning	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane|synaptic vesicle|synaptosome	calcium ion binding|calmodulin binding|extracellular-glutamate-gated ion channel activity|glutamate binding|glycine binding	g.chr9:140051399A>T		CCDS7031.1, CCDS7032.1, CCDS43910.1, CCDS55354.1, CCDS55355.1	9q34.3	2013-01-11			ENSG00000176884	ENSG00000176884		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4584	protein-coding gene	gene with protein product		138249	"N-methyl-D-aspartate receptor subunit NR1"	NMDAR1		1350383	Standard	NM_000832		Approved	GluN1	uc004cln.3	Q05586	OTTHUMG00000020976	ENST00000371561.3:c.878A>T	9.37:g.140051399A>T	ENSP00000360616:p.His293Leu					GRIN1_ENST00000315048.3_Missense_Mutation_p.H293L|GRIN1_ENST00000471122.1_3'UTR|GRIN1_ENST00000371560.3_Missense_Mutation_p.H314L|GRIN1_ENST00000350902.5_Missense_Mutation_p.H293L|GRIN1_ENST00000371553.3_Missense_Mutation_p.H314L|GRIN1_ENST00000371559.4_Missense_Mutation_p.H293L|GRIN1_ENST00000371555.4_Missense_Mutation_p.H314L|GRIN1_ENST00000371550.4_Missense_Mutation_p.H293L|GRIN1_ENST00000371546.4_Missense_Mutation_p.H314L	p.H293L	NM_007327.3	NP_015566.1	Q05586	NMDZ1_HUMAN	STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;6.87e-05)|Epithelial(140;0.00095)	6	1975	+	all_cancers(76;0.0926)		293					A6NLK7|A6NLR1|C9K0X1|P35437|Q12867|Q12868|Q5VSF3|Q5VSF4|Q5VSF5|Q5VSF6|Q5VSF7|Q5VSF8|Q9UPF8|Q9UPF9	Missense_Mutation	SNP	ENST00000371561.3	37	c.878A>T	CCDS7031.1	.	.	.	.	.	.	.	.	.	.	A	16.83	3.230665	0.58777	.	.	ENSG00000176884	ENST00000371561;ENST00000315048;ENST00000350902;ENST00000371550;ENST00000371546;ENST00000371555;ENST00000371553;ENST00000371559;ENST00000371560	D;D;D;D;D;D;D;D;D	0.83914	-1.78;-1.78;-1.78;-1.78;-1.78;-1.78;-1.78;-1.78;-1.78	4.65	4.65	0.58169	Extracellular ligand-binding receptor (1);	0.058926	0.64402	D	0.000002	T	0.65984	0.2744	N	0.03608	-0.345	0.58432	D	0.999996	B;B;B;B;B;B	0.21381	0.034;0.0;0.017;0.055;0.022;0.0	B;B;B;B;B;B	0.24006	0.05;0.001;0.008;0.013;0.013;0.003	T	0.64347	-0.6429	10	0.44086	T	0.13	.	12.8809	0.58015	1.0:0.0:0.0:0.0	.	314;314;293;293;293;293	Q5VSF4;Q5VSF5;Q05586-2;Q05586-3;Q05586;A2AVK2	.;.;.;.;NMDZ1_HUMAN;.	L	293;293;293;293;314;314;314;293;314	ENSP00000360616:H293L;ENSP00000316696:H293L;ENSP00000316915:H293L;ENSP00000360605:H293L;ENSP00000360601:H314L;ENSP00000360610:H314L;ENSP00000360608:H314L;ENSP00000360614:H293L;ENSP00000360615:H314L	ENSP00000316696:H293L	H	+	2	0	GRIN1	139171220	1.000000	0.71417	0.996000	0.52242	0.979000	0.70002	6.750000	0.74888	1.737000	0.51674	0.402000	0.26972	CAC		0.672	GRIN1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000055267.3	NM_007327		12	18	0	0	0	1	0	12	18					T	140051399	A	T	140051399	3	4	290	1	0	0	0	0	1	0	0	0	6778	159	6	5	967	5	GRIN1	9	140051399	Missense_Mutation	SNP	A	TCGA-J9-A8CL-01A-11D-A34U-08	786328	140051399	1162032	44	13982											
GIF	2694	broad.mit.edu	37	chr11	59611368	59611368	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaccgttgttgtcgctggaCatgagctggtaagtcaggag	8	11	14	8	2	2	1	2	1	0	0	3	3	2	3	1	3	1	5	1	3	1	3			TCGA-J9-A8CL-01A-11D-A34U-08	TCGA-J9-A8CL-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1f9f2e-7a09-4e2d-bb99-c881a34a8da2	e5a23b9d-18a0-4cb4-8743-3d53fc3c45b4	g.chr11:59611368C>T	ENST00000257248.2	-	2	287	c.240G>A	c.(238-240)atG>atA	p.M80I	GIF_ENST00000541311.1_Missense_Mutation_p.M55I	NM_005142.2	NP_005133.2	P27352	IF_HUMAN	gastric intrinsic factor (vitamin B synthesis)	80					cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|cobalt ion transport (GO:0006824)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|endosome (GO:0005768)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|lysosomal lumen (GO:0043202)|microvillus (GO:0005902)	cobalamin binding (GO:0031419)			large_intestine(4)|liver(1)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	17					Cyanocobalamin(DB00115)	TGTCGCTGGACATGAGCTGGT	0.542																																					NSCLC(53;1139 1245 16872 38474 42853)	ENST00000541311.1																			0				large_intestine(4)|liver(1)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	17						c.(163-165)atG>atA		gastric intrinsic factor (vitamin B synthesis)							106	91	96					11																	59611368		2201	4295	6496	SO:0001583	missense	2694				cobalamin metabolic process|cobalamin transport|cobalt ion transport	apical plasma membrane|endosome|extracellular space|microvillus	cobalamin binding	g.chr11:59611368C>T	X76562	CCDS7977.1	11q12.1	2013-09-20			ENSG00000134812	ENSG00000134812			4268	protein-coding gene	gene with protein product		609342				2071148	Standard	NM_005142		Approved	TCN3, IF, IFMH, INF	uc001noi.3	P27352	OTTHUMG00000167399	ENST00000257248.2:c.240G>A	11.37:g.59611368C>T	ENSP00000257248:p.Met80Ile					GIF_ENST00000257248.2_Missense_Mutation_p.M80I	p.M55I			P27352	IF_HUMAN			2	399	-			80					B2RAN8|B4DVZ1	Missense_Mutation	SNP	ENST00000257248.2	37	c.165G>A	CCDS7977.1	.	.	.	.	.	.	.	.	.	.	C	3.901	-0.022068	0.07634	.	.	ENSG00000134812	ENST00000257248;ENST00000541311	T;T	0.35236	1.32;1.32	5.2	3.3	0.37823	.	0.507343	0.21201	N	0.078466	T	0.14917	0.0360	N	0.03608	-0.345	0.32188	N	0.579444	B;B	0.10296	0.003;0.001	B;B	0.08055	0.003;0.002	T	0.09015	-1.0694	10	0.31617	T	0.26	-7.8007	7.1627	0.25672	0.0:0.8006:0.0:0.1994	.	80;80	B4DVY6;P27352	.;IF_HUMAN	I	80;55	ENSP00000257248:M80I;ENSP00000440427:M55I	ENSP00000257248:M80I	M	-	3	0	GIF	59367944	0.174000	0.23070	1.000000	0.80357	0.151000	0.21798	0.251000	0.18257	1.323000	0.45263	0.655000	0.94253	ATG		0.542	GIF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394497.1	NM_005142		5	22	0	0	0	1	0	5	22					T	59611368	C	T	59611368	3	4	290	1	0	0	0	0	1	0	0	0	6376	478	17	3	1045	3	GIF	11	59611368	Missense_Mutation	SNP	C	TCGA-J9-A8CL-01A-11D-A34U-08		59611368	75395148	45	13983											
KDM2A	22992	broad.mit.edu	37	chr11	66985327	66985327	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgtcagcgcattgagctcaaGcagggctataccttcgtcat	9	11	10	11	2	3	1	3	1	0	0	4	1	3	1	1	1	4	4	1	1	3	4			TCGA-J9-A8CL-01A-11D-A34U-08	TCGA-J9-A8CL-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1f9f2e-7a09-4e2d-bb99-c881a34a8da2	e5a23b9d-18a0-4cb4-8743-3d53fc3c45b4	g.chr11:66985327G>A	ENST00000529006.2	+	9	1259	c.813G>A	c.(811-813)aaG>aaA	p.K271K	KDM2A_ENST00000398645.2_Silent_p.K271K|KDM2A_ENST00000526258.1_3'UTR	NM_012308.2	NP_036440.1	Q9Y2K7	KDM2A_HUMAN	lysine (K)-specific demethylase 2A	271	JmjC. {ECO:0000255|PROSITE- ProRule:PRU00538}.				histone H3-K36 demethylation (GO:0070544)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleus (GO:0005634)	histone demethylase activity (H3-K36 specific) (GO:0051864)|unmethylated CpG binding (GO:0045322)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|urinary_tract(2)	36						TTGAGCTCAAGCAGGGCTATA	0.458																																						ENST00000529006.2																			0				NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|urinary_tract(2)	36						c.(811-813)aaG>aaA		lysine (K)-specific demethylase 2A							72	67	69					11																	66985327		1949	4141	6090	SO:0001819	synonymous_variant	22992				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding	g.chr11:66985327G>A	BC047486	CCDS44657.1, CCDS58148.1	11q13.1	2014-02-18	2009-04-06	2009-04-06	ENSG00000173120	ENSG00000173120		"F-boxes / Leucine-rich repeats", "Chromatin-modifying enzymes / K-demethylases"	13606	protein-coding gene	gene with protein product	"F-box protein FBL11", "jumonji C domain-containing histone demethylase 1A"	605657	"F-box and leucine-rich repeat protein 11"	FBXL11		10231032, 10531037	Standard	NM_012308		Approved	KIAA1004, FBL11, LILINA, DKFZP434M1735, FBL7, FLJ00115, CXXC8, JHDM1A	uc001ojw.3	Q9Y2K7	OTTHUMG00000167103	ENST00000529006.2:c.813G>A	11.37:g.66985327G>A						KDM2A_ENST00000526258.1_3'UTR|KDM2A_ENST00000398645.2_Silent_p.K271K	p.K271K	NM_012308.2	NP_036440.1	Q9Y2K7	KDM2A_HUMAN			9	1259	+			271			JmjC.		D4QA03|E9PIL6|I3VM55|Q49A21|Q4G0M3|Q69YY8|Q9BVH5|Q9H7H5|Q9UK66	Silent	SNP	ENST00000529006.2	37	c.813G>A	CCDS44657.1																																																																																				0.458	KDM2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393140.2	NM_012308		5	50	0	0	0	1	0	5	50					A	66985327	G	A	66985327	2	1	290	1	0	0	0	0	0	0	0	1	8124	962	34	3		3	KDM2A	11	66985327	Silent	SNP	G	TCGA-J9-A8CL-01A-11D-A34U-08	7373959	66985327	68021189	46	13984											
PKNOX2	63876	broad.mit.edu	37	chr11	125255503	125255503	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaatgtgaacaggccacccAgggctctgagtgcatcacct	11	7	11	12	0	2	2	1	2	1	0	2	3	2	2	3	2	2	2	3	2	2	0			TCGA-J9-A8CL-01A-11D-A34U-08	TCGA-J9-A8CL-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1f9f2e-7a09-4e2d-bb99-c881a34a8da2	e5a23b9d-18a0-4cb4-8743-3d53fc3c45b4	g.chr11:125255503A>T	ENST00000298282.9	+	6	555	c.284A>T	c.(283-285)cAg>cTg	p.Q95L	PKNOX2_ENST00000530517.1_3'UTR|PKNOX2_ENST00000542175.1_Missense_Mutation_p.Q31L	NM_022062.2	NP_071345.2	Q96KN3	PKNX2_HUMAN	PBX/knotted 1 homeobox 2	95					regulation of transcription from RNA polymerase II promoter (GO:0006357)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(14)|ovary(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	29		Breast(109;0.00234)|all_lung(97;0.0191)|Lung NSC(97;0.0196)|Medulloblastoma(222;0.0447)|all_neural(223;0.116)		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.117)		CAGGCCACCCAGGGCTCTGAG	0.557																																						ENST00000298282.9																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(14)|ovary(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	29						c.(283-285)cAg>cTg		PBX/knotted 1 homeobox 2							122	123	123					11																	125255503		2074	4229	6303	SO:0001583	missense	63876					nucleus	sequence-specific DNA binding transcription factor activity	g.chr11:125255503A>T	AK023136	CCDS41730.1	11q24.2	2014-09-04			ENSG00000165495	ENSG00000165495		"Homeoboxes / TALE class"	16714	protein-coding gene	gene with protein product		613066				11549286	Standard	NM_022062		Approved		uc001qbu.3	Q96KN3	OTTHUMG00000165884	ENST00000298282.9:c.284A>T	11.37:g.125255503A>T	ENSP00000298282:p.Gln95Leu					PKNOX2_ENST00000530517.1_3'UTR|PKNOX2_ENST00000542175.1_Missense_Mutation_p.Q31L	p.Q95L	NM_022062.2	NP_071345.2	Q96KN3	PKNX2_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.117)	6	555	+		Breast(109;0.00234)|all_lung(97;0.0191)|Lung NSC(97;0.0196)|Medulloblastoma(222;0.0447)|all_neural(223;0.116)	95					B7Z5I5|F5GZ15|Q63HL6|Q86XD1	Missense_Mutation	SNP	ENST00000298282.9	37	c.284A>T	CCDS41730.1	.	.	.	.	.	.	.	.	.	.	A	12.91	2.080776	0.36758	.	.	ENSG00000165495	ENST00000530517;ENST00000531116;ENST00000298282;ENST00000542175;ENST00000535518	T;T;T;T	0.54866	0.55;0.55;0.55;0.55	5.51	5.51	0.81932	.	0.116254	0.64402	D	0.000009	T	0.55016	0.1894	L	0.38953	1.18	0.80722	D	1	B;D	0.59357	0.021;0.985	B;P	0.52343	0.08;0.696	T	0.55036	-0.8203	10	0.42905	T	0.14	-11.4378	15.6245	0.76845	1.0:0.0:0.0:0.0	.	31;95	F5GZ15;Q96KN3	.;PKNX2_HUMAN	L	66;66;95;31;83	ENSP00000434732:Q66L;ENSP00000433971:Q66L;ENSP00000298282:Q95L;ENSP00000441470:Q31L	ENSP00000298282:Q95L	Q	+	2	0	PKNOX2	124760713	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.378000	0.52432	2.093000	0.63338	0.533000	0.62120	CAG		0.557	PKNOX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386866.3			22	51	0	0	0	1	0	22	51					T	125255503	A	T	125255503	3	4	290	1	0	0	0	0	1	0	0	0	11983	188	7	5	294	5	PKNOX2	11	125255503	Missense_Mutation	SNP	A	TCGA-J9-A8CL-01A-11D-A34U-08	58270176	125255503	9751013	47	13985											
SUOX	6821	broad.mit.edu	37	chr12	56397664	56397664	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggggagctgaatcctgaagAcaaggtagcccccaccgtgg	10	6	14	11	1	0	3	0	2	0	1	1	4	1	4	4	4	2	2	4	4	4	1			TCGA-J9-A8CL-01A-11D-A34U-08	TCGA-J9-A8CL-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1f9f2e-7a09-4e2d-bb99-c881a34a8da2	e5a23b9d-18a0-4cb4-8743-3d53fc3c45b4	g.chr12:56397664A>T	ENST00000394109.3	+	3	1215	c.491A>T	c.(490-492)gAc>gTc	p.D164V	SUOX_ENST00000551841.2_Intron|SUOX_ENST00000548274.1_Missense_Mutation_p.D164V|SUOX_ENST00000266971.3_Missense_Mutation_p.D164V|SUOX_ENST00000394115.2_Missense_Mutation_p.D164V|SUOX_ENST00000550478.1_3'UTR|SUOX_ENST00000356124.4_Missense_Mutation_p.D164V			P51687	SUOX_HUMAN	sulfite oxidase	164					cellular nitrogen compound metabolic process (GO:0034641)|small molecule metabolic process (GO:0044281)|sulfide oxidation, using sulfide:quinone oxidoreductase (GO:0070221)|sulfur amino acid catabolic process (GO:0000098)|sulfur amino acid metabolic process (GO:0000096)	mitochondrial matrix (GO:0005759)	electron carrier activity (GO:0009055)|heme binding (GO:0020037)|molybdenum ion binding (GO:0030151)|molybdopterin cofactor binding (GO:0043546)|sulfite oxidase activity (GO:0008482)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(6)	15			UCEC - Uterine corpus endometrioid carcinoma (6;0.0471)|OV - Ovarian serous cystadenocarcinoma(18;0.119)			AATCCTGAAGACAAGGTAGCC	0.562																																						ENST00000394109.3																			0				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(6)	15						c.(490-492)gAc>gTc		sulfite oxidase							82	80	80					12																	56397664		2203	4300	6503	SO:0001583	missense	6821					mitochondrial intermembrane space	electron carrier activity|molybdenum ion binding|sulfite oxidase activity	g.chr12:56397664A>T	BC065193	CCDS8901.2	12q13.13	2011-02-10			ENSG00000139531	ENSG00000139531	1.8.3.1		11460	protein-coding gene	gene with protein product		606887				7599189	Standard	XM_005269112		Approved		uc001siz.3	P51687	OTTHUMG00000128503	ENST00000394109.3:c.491A>T	12.37:g.56397664A>T	ENSP00000377668:p.Asp164Val					SUOX_ENST00000550478.1_3'UTR|SUOX_ENST00000356124.4_Missense_Mutation_p.D164V|SUOX_ENST00000551841.2_Intron|SUOX_ENST00000266971.3_Missense_Mutation_p.D164V|SUOX_ENST00000548274.1_Missense_Mutation_p.D164V|SUOX_ENST00000394115.2_Missense_Mutation_p.D164V	p.D164V			P51687	SUOX_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (6;0.0471)|OV - Ovarian serous cystadenocarcinoma(18;0.119)		3	1215	+			164						Missense_Mutation	SNP	ENST00000394109.3	37	c.491A>T	CCDS8901.2	.	.	.	.	.	.	.	.	.	.	A	8.879	0.951282	0.18431	.	.	ENSG00000139531	ENST00000356124;ENST00000266971;ENST00000394115;ENST00000548274;ENST00000394109	D;D;D;D;D	0.92397	-3.03;-3.03;-3.03;-3.03;-3.03	4.46	4.46	0.54185	Cytochrome b5 (2);	0.228491	0.42964	D	0.000621	D	0.89777	0.6813	L	0.58101	1.795	0.58432	D	0.999999	B	0.11235	0.004	B	0.11329	0.006	D	0.87200	0.2240	10	0.46703	T	0.11	-8.2029	13.6785	0.62469	1.0:0.0:0.0:0.0	.	164	P51687	SUOX_HUMAN	V	164	ENSP00000348440:D164V;ENSP00000266971:D164V;ENSP00000377674:D164V;ENSP00000450245:D164V;ENSP00000377668:D164V	ENSP00000266971:D164V	D	+	2	0	SUOX	54683931	0.999000	0.42202	0.518000	0.27811	0.417000	0.31264	4.108000	0.57817	2.233000	0.73108	0.533000	0.62120	GAC		0.562	SUOX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250309.1	NM_000456		7	59	0	0	0	1	0	7	59					T	56397664	A	T	56397664	3	4	290	1	0	0	0	0	1	0	0	0	15392	275	10	5	501	5	SUOX	12	56397664	Missense_Mutation	SNP	A	TCGA-J9-A8CL-01A-11D-A34U-08		56397664	77454231	48	13986											
MYH6	4624	broad.mit.edu	37	chr14	23851721	23851721	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cgctcctctgcctcatccagCtcatgctgcaccttgcggaa	6	10	8	17	2	3	0	2	0	1	0	5	1	5	1	4	1	5	4	4	1	1	1			TCGA-J9-A8CL-01A-11D-A34U-08	TCGA-J9-A8CL-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1f9f2e-7a09-4e2d-bb99-c881a34a8da2	e5a23b9d-18a0-4cb4-8743-3d53fc3c45b4	g.chr14:23851721C>G	ENST00000356287.3	-	37	5741	c.5712G>C	c.(5710-5712)gaG>gaC	p.E1904D	MYH6_ENST00000405093.3_Missense_Mutation_p.E1904D			P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	1904					adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|atrial cardiac muscle tissue morphogenesis (GO:0055009)|BMP signaling pathway (GO:0030509)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle fiber development (GO:0048739)|in utero embryonic development (GO:0001701)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|myofibril assembly (GO:0030239)|regulation of ATPase activity (GO:0043462)|regulation of blood pressure (GO:0008217)|regulation of heart contraction (GO:0008016)|regulation of heart growth (GO:0060420)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|sarcomere organization (GO:0045214)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visceral muscle development (GO:0007522)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin complex (GO:0016459)|myosin filament (GO:0032982)|nucleus (GO:0005634)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|protein kinase binding (GO:0019901)			breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		CCTCATCCAGCTCATGCTGCA	0.607																																						ENST00000405093.3																			0				breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119						c.(5710-5712)gaG>gaC		myosin, heavy chain 6, cardiac muscle, alpha							185	159	168					14																	23851721		2203	4300	6503	SO:0001583	missense	4624				adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle	g.chr14:23851721C>G	D00943	CCDS9600.1	14q11.2-q13	2014-09-17	2008-08-01		ENSG00000197616	ENSG00000197616		"Myosins / Myosin superfamily : Class II"	7576	protein-coding gene	gene with protein product	"cardiomyopathy, hypertrophic 1"	160710	"myosin, heavy polypeptide 6, cardiac muscle, alpha (cardiomyopathy, hypertrophic 1)"			2144212	Standard	NM_002471		Approved		uc001wjv.3	P13533	OTTHUMG00000028753	ENST00000356287.3:c.5712G>C	14.37:g.23851721C>G	ENSP00000348634:p.Glu1904Asp					MYH6_ENST00000356287.3_Missense_Mutation_p.E1904D	p.E1904D	NM_002471.3	NP_002462.2	P13533	MYH6_HUMAN		GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)	38	5782	-	all_cancers(95;2.54e-05)		1904					A2RTX1|D9YZU2|Q13943|Q14906|Q14907	Missense_Mutation	SNP	ENST00000356287.3	37	c.5712G>C	CCDS9600.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.069530	0.76301	.	.	ENSG00000197616	ENST00000405093;ENST00000356287	T;T	0.77877	-1.13;-1.13	4.05	3.16	0.36331	Myosin tail (1);	.	.	.	.	D	0.84719	0.5534	M	0.82823	2.61	0.47374	D	0.9994	D	0.55800	0.973	P	0.59546	0.859	D	0.84544	0.0640	9	0.59425	D	0.04	.	8.3655	0.32385	0.0:0.8158:0.0:0.1842	.	1904	P13533	MYH6_HUMAN	D	1904	ENSP00000386041:E1904D;ENSP00000348634:E1904D	ENSP00000348634:E1904D	E	-	3	2	MYH6	22921561	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.084000	0.41625	1.049000	0.40321	0.561000	0.74099	GAG		0.607	MYH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071796.3			28	63	0	0	0	1	0	28	63					G	23851721	C	G	23851721	3	3	290	1	0	0	0	0	1	0	0	0	10038	796	28	5	115	5	MYH6	14	23851721	Missense_Mutation	SNP	C	TCGA-J9-A8CL-01A-11D-A34U-08		23851721	83497819	49	13987											
ADAM20	8748	broad.mit.edu	37	chr14	70989610	70989610	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccatactggcacacttcttaCggatgcagatcttttctgga	9	13	8	11	1	3	1	0	0	3	1	3	3	3	3	1	3	3	2	1	3	2	5	rs529674678		TCGA-J9-A8CL-01A-11D-A34U-08	TCGA-J9-A8CL-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1f9f2e-7a09-4e2d-bb99-c881a34a8da2	e5a23b9d-18a0-4cb4-8743-3d53fc3c45b4	g.chr14:70989610C>T	ENST00000256389.3	-	2	2259	c.2015G>A	c.(2014-2016)cGt>cAt	p.R672H	RP11-486O13.4_ENST00000556646.1_lincRNA	NM_003814.4	NP_003805.3	O43506	ADA20_HUMAN	ADAM metallopeptidase domain 20	622					binding of sperm to zona pellucida (GO:0007339)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(1)|skin(2)	27			KIRC - Kidney renal clear cell carcinoma(12;0.133)|Kidney(31;0.188)	all cancers(60;0.00294)|BRCA - Breast invasive adenocarcinoma(234;0.00668)|OV - Ovarian serous cystadenocarcinoma(108;0.0344)		ACACTTCTTACGGATGCAGAT	0.468													C|||	1	0.000199681	8e-04	0	5008	,	,		23350	0		0	False		,,,				2504	0					ENST00000256389.3																			0				autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(1)|skin(2)	27						c.(2014-2016)cGt>cAt		ADAM metallopeptidase domain 20							452	340	378					14																	70989610		2203	4300	6503	SO:0001583	missense	8748				proteolysis|single fertilization	integral to membrane	metalloendopeptidase activity|zinc ion binding	g.chr14:70989610C>T	AF029899	CCDS32111.1	14q24.2	2012-04-30	2005-08-18		ENSG00000134007	ENSG00000134007		"ADAM metallopeptidase domain containing"	199	protein-coding gene	gene with protein product		603712	"a disintegrin and metalloproteinase domain 20"			9469942	Standard	NM_003814		Approved		uc001xme.3	O43506	OTTHUMG00000167548	ENST00000256389.3:c.2015G>A	14.37:g.70989610C>T	ENSP00000256389:p.Arg672His					RP11-486O13.4_ENST00000556646.1_lincRNA	p.R672H	NM_003814.4	NP_003805.3	O43506	ADA20_HUMAN	KIRC - Kidney renal clear cell carcinoma(12;0.133)|Kidney(31;0.188)	all cancers(60;0.00294)|BRCA - Breast invasive adenocarcinoma(234;0.00668)|OV - Ovarian serous cystadenocarcinoma(108;0.0344)	2	2259	-			622					Q6GTZ1|Q9UKJ9	Missense_Mutation	SNP	ENST00000256389.3	37	c.2015G>A	CCDS32111.1	.	.	.	.	.	.	.	.	.	.	C	0.356	-0.942240	0.02322	.	.	ENSG00000134007	ENST00000256389	T	0.00902	5.56	4.67	-4.58	0.03410	ADAM, cysteine-rich (1);	1.596060	0.04222	N	0.333740	T	0.00666	0.0022	N	0.10945	0.07	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.49273	-0.8957	10	0.05620	T	0.96	.	12.3931	0.55370	0.0:0.5058:0.0:0.4942	.	622	O43506	ADA20_HUMAN	H	672	ENSP00000256389:R672H	ENSP00000256389:R672H	R	-	2	0	ADAM20	70059363	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.501000	0.06398	-1.144000	0.02862	-0.471000	0.05019	CGT		0.468	ADAM20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395004.2			73	150	0	0	0	1	0	73	150					T	70989610	C	T	70989610	3	4	290	1	0	0	0	0	1	0	0	0	242	536	19	1	319	1	ADAM20	14	70989610	Missense_Mutation	SNP	C	TCGA-J9-A8CL-01A-11D-A34U-08	47137889	70989610	36359930	50	13988											
ALDH6A1	4329	broad.mit.edu	37	chr14	74537998	74537998	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctccagggactcgctcagaTggtttcattaggaaggtatt	9	12	12	8	1	2	1	2	0	0	1	4	3	3	3	1	4	0	4	1	4	3	4			TCGA-J9-A8CL-01A-11D-A34U-08	TCGA-J9-A8CL-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1f9f2e-7a09-4e2d-bb99-c881a34a8da2	e5a23b9d-18a0-4cb4-8743-3d53fc3c45b4	g.chr14:74537998T>C	ENST00000553458.1	-	6	728	c.630A>G	c.(628-630)ccA>ccG	p.P210P	ALDH6A1_ENST00000350259.4_Silent_p.P197P|ALDH6A1_ENST00000555126.1_5'Flank|CCDC176_ENST00000553773.1_Intron|AC005484.5_ENST00000492026.1_RNA|ALDH6A1_ENST00000556852.1_5'Flank	NM_001278593.1|NM_005589.2	NP_001265522.1|NP_005580.1	Q02252	MMSA_HUMAN	aldehyde dehydrogenase 6 family, member A1	210					branched-chain amino acid catabolic process (GO:0009083)|brown fat cell differentiation (GO:0050873)|cellular nitrogen compound metabolic process (GO:0034641)|small molecule metabolic process (GO:0044281)|thymine catabolic process (GO:0006210)|thymine metabolic process (GO:0019859)|valine catabolic process (GO:0006574)|valine metabolic process (GO:0006573)	extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	fatty-acyl-CoA binding (GO:0000062)|malonate-semialdehyde dehydrogenase (acetylating) activity (GO:0018478)|methylmalonate-semialdehyde dehydrogenase (acylating) activity (GO:0004491)|poly(A) RNA binding (GO:0044822)			NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|ovary(2)|prostate(3)|skin(3)	21				BRCA - Breast invasive adenocarcinoma(234;0.00354)		CTCGCTCAGATGGTTTCATTA	0.483																																						ENST00000553458.1																			0				NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|ovary(2)|prostate(3)|skin(3)	21						c.(628-630)ccA>ccG		aldehyde dehydrogenase 6 family, member A1	NADH(DB00157)						87	81	83					14																	74537998		2203	4300	6503	SO:0001819	synonymous_variant	4329					mitochondrial matrix|nucleus	fatty-acyl-CoA binding|malonate-semialdehyde dehydrogenase (acetylating) activity|methylmalonate-semialdehyde dehydrogenase (acylating) activity	g.chr14:74537998T>C	M93405	CCDS9826.1, CCDS61501.1	14q24.3	2014-02-03			ENSG00000119711	ENSG00000119711	1.2.1.27	"Aldehyde dehydrogenases"	7179	protein-coding gene	gene with protein product		603178		MMSDH		1527093	Standard	NM_005589		Approved		uc001xpo.3	Q02252	OTTHUMG00000171203	ENST00000553458.1:c.630A>G	14.37:g.74537998T>C						ALDH6A1_ENST00000350259.4_Silent_p.P197P|CCDC176_ENST00000553773.1_Intron|AC005484.5_ENST00000492026.1_RNA	p.P210P	NM_001278593.1|NM_005589.2	NP_001265522.1|NP_005580.1	Q02252	MMSA_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00354)	6	728	-			210					B2R609|B4DFS8|J3KNU8|Q9UKM8	Silent	SNP	ENST00000553458.1	37	c.630A>G	CCDS9826.1																																																																																				0.483	ALDH6A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412309.1			22	36	0	0	0	1	0	22	36					C	74537998	T	C	74537998	2	2	290	1	0	0	0	0	0	0	0	1	503	1451	51	4		4	ALDH6A1	14	74537998	Silent	SNP	T	TCGA-J9-A8CL-01A-11D-A34U-08	3548388	74537998	32811542	51	13989											
VIPAR	63894	broad.mit.edu	37	chr14	77917637	77917637	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cacgcccctcgtgggttgagCcgctattaccagcagtctct	6	10	10	15	3	1	1	0	1	1	0	3	1	1	1	4	1	3	3	4	1	2	3			TCGA-J9-A8CL-01A-11D-A34U-08	TCGA-J9-A8CL-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1f9f2e-7a09-4e2d-bb99-c881a34a8da2	e5a23b9d-18a0-4cb4-8743-3d53fc3c45b4	g.chr14:77917637C>T	ENST00000553888.1	-	4	746	c.236G>A	c.(235-237)gGc>gAc	p.G79D	VIPAS39_ENST00000327028.4_Missense_Mutation_p.G79D|VIPAS39_ENST00000343765.2_Missense_Mutation_p.G79D|VIPAS39_ENST00000557658.1_Missense_Mutation_p.G79D|VIPAS39_ENST00000448935.2_Intron|VIPAS39_ENST00000556412.1_Missense_Mutation_p.G105D	NM_001193314.1|NM_001193317.1|NM_022067.3	NP_001180243.1|NP_001180246.1|NP_071350.2	Q9H9C1	SPE39_HUMAN	VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog	79					cell differentiation (GO:0030154)|endosome to lysosome transport (GO:0008333)|intracellular protein transport (GO:0006886)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|late endosome (GO:0005770)|recycling endosome (GO:0055037)											GTGGGTTGAGCCGCTATTACC	0.483																																						ENST00000553888.1																			0											c.(235-237)gGc>gAc		VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog							259	204	222					14																	77917637		2203	4300	6503	SO:0001583	missense	63894							g.chr14:77917637C>T	AK022925	CCDS9862.1, CCDS53905.1	14q24.3-q31	2013-08-14	2012-07-24	2012-07-24	ENSG00000151445	ENSG00000151445			20347	protein-coding gene	gene with protein product	"VPS33B interacting protein, apical-basolateral polarity regulator"	613401	"chromosome 14 open reading frame 133"	C14orf133		20190753, 19109425, 22753090, 23002115, 23918659	Standard	NM_022067		Approved	VIPAR, VPS16B, SPE-39, SPE39, hSPE-39	uc001xtu.2	Q9H9C1		ENST00000553888.1:c.236G>A	14.37:g.77917637C>T	ENSP00000452181:p.Gly79Asp					VIPAS39_ENST00000343765.2_Missense_Mutation_p.G79D|VIPAS39_ENST00000448935.2_Intron|VIPAS39_ENST00000557658.1_Missense_Mutation_p.G79D|VIPAS39_ENST00000327028.4_Missense_Mutation_p.G79D|VIPAS39_ENST00000556412.1_Missense_Mutation_p.G105D	p.G79D	NM_001193314.1|NM_001193317.1|NM_022067.3	NP_001180243.1|NP_001180246.1|NP_071350.2					4	746	-								B4DPI6|O95434|Q9H7E1|Q9H9I9	Missense_Mutation	SNP	ENST00000553888.1	37	c.236G>A	CCDS9862.1	.	.	.	.	.	.	.	.	.	.	C	8.009	0.757142	0.15846	.	.	ENSG00000151445	ENST00000343765;ENST00000553888;ENST00000327028;ENST00000557658;ENST00000556412	T;T;T;T;T	0.41400	1.0;1.0;1.0;1.0;1.0	5.49	3.61	0.41365	.	0.314327	0.39341	N	0.001386	T	0.29716	0.0742	L	0.29908	0.895	0.09310	N	1	B	0.30563	0.285	B	0.25614	0.062	T	0.16897	-1.0387	10	0.56958	D	0.05	-2.793	11.3804	0.49754	0.2533:0.6245:0.1221:0.0	.	79	Q9H9C1	VIPAR_HUMAN	D	79;79;79;79;105	ENSP00000339122:G79D;ENSP00000452181:G79D;ENSP00000313098:G79D;ENSP00000452191:G79D;ENSP00000451857:G105D	ENSP00000313098:G79D	G	-	2	0	VIPAR	76987390	0.000000	0.05858	0.098000	0.21074	0.017000	0.09413	0.922000	0.28734	0.635000	0.30488	0.563000	0.77884	GGC		0.483	VIPAS39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414008.1	NM_022067		4	157	0	0	0	1	0	4	157					T	77917637	C	T	77917637	3	4	290	1	0	0	0	0	1	0	0	0	17165	739	26	3	1313	3	VIPAR	14	77917637	Missense_Mutation	SNP	C	TCGA-J9-A8CL-01A-11D-A34U-08	3379639	77917637	29431903	52	13990											
GABRB3	2562	broad.mit.edu	37	chr15	26866590	26866590	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cccatagctggtcagccactCgattgtcaagcgtgaggttg	8	10	12	11	2	2	1	2	1	0	0	3	2	2	1	2	2	3	2	2	2	2	3			TCGA-J9-A8CL-01A-11D-A34U-08	TCGA-J9-A8CL-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1f9f2e-7a09-4e2d-bb99-c881a34a8da2	e5a23b9d-18a0-4cb4-8743-3d53fc3c45b4	g.chr15:26866590C>T	ENST00000311550.5	-	4	443	c.332G>A	c.(331-333)cGa>cAa	p.R111Q	GABRB3_ENST00000400188.3_Missense_Mutation_p.R40Q|GABRB3_ENST00000541819.2_Missense_Mutation_p.R167Q|GABRB3_ENST00000545868.1_Missense_Mutation_p.R26Q|GABRB3_ENST00000299267.4_Missense_Mutation_p.R111Q	NM_000814.5|NM_001278631.1	NP_000805.1|NP_001265560.1	P28472	GBRB3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 3	111					cellular response to histamine (GO:0071420)|chloride transmembrane transport (GO:1902476)|cochlea development (GO:0090102)|inner ear receptor cell development (GO:0060119)|innervation (GO:0060384)|ion transmembrane transport (GO:0034220)|negative regulation of neuron apoptotic process (GO:0043524)|palate development (GO:0060021)|sensory perception of sound (GO:0007605)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|GABA-A receptor complex (GO:1902711)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)|GABA-gated chloride ion channel activity (GO:0022851)			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(41)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	68		all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232)		all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Fospropofol(DB06716)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ivermectin(DB00602)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Piperazine(DB00592)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	GTCAGCCACTCGATTGTCAAG	0.448																																						ENST00000541819.2																			0				NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(41)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	68						c.(499-501)cGa>cAa		gamma-aminobutyric acid (GABA) A receptor, beta 3	Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)						104	101	102					15																	26866590		2203	4300	6503	SO:0001583	missense	2562				synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chr15:26866590C>T		CCDS10018.1, CCDS10019.1, CCDS53920.1, CCDS53921.1	15q12	2012-06-22			ENSG00000166206	ENSG00000166206		"GABA receptors", "Ligand-gated ion channels / GABA(A) receptors"	4083	protein-coding gene	gene with protein product	"GABA(A) receptor, beta 3"	137192					Standard	NM_000814		Approved		uc001zaz.3	P28472	OTTHUMG00000129231	ENST00000311550.5:c.332G>A	15.37:g.26866590C>T	ENSP00000308725:p.Arg111Gln					GABRB3_ENST00000400188.3_Missense_Mutation_p.R40Q|GABRB3_ENST00000311550.5_Missense_Mutation_p.R111Q|GABRB3_ENST00000545868.1_Missense_Mutation_p.R26Q|GABRB3_ENST00000299267.4_Missense_Mutation_p.R111Q	p.R167Q			P28472	GBRB3_HUMAN		all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243)	5	602	-		all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232)	111					B7Z2W1|B7Z825|F5H3D2|H7BYV8|Q14352|Q96FM5	Missense_Mutation	SNP	ENST00000311550.5	37	c.500G>A	CCDS10019.1	.	.	.	.	.	.	.	.	.	.	C	36	5.890806	0.97074	.	.	ENSG00000166206	ENST00000311550;ENST00000541819;ENST00000299267;ENST00000400188;ENST00000545868;ENST00000555094	T;T;T;T;T;T	0.78924	-1.22;-1.22;-1.22;-1.22;-1.22;-1.22	5.81	5.81	0.92471	Neurotransmitter-gated ion-channel ligand-binding (3);	0.000000	0.85682	D	0.000000	D	0.87034	0.6077	M	0.67625	2.065	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.80764	0.982;0.989;0.994	D	0.84372	0.0544	10	0.33141	T	0.24	.	19.0679	0.93119	0.0:1.0:0.0:0.0	.	167;111;111	F5H7N0;P28472-2;P28472	.;.;GBRB3_HUMAN	Q	111;167;111;40;26;26	ENSP00000308725:R111Q;ENSP00000442408:R167Q;ENSP00000299267:R111Q;ENSP00000383049:R40Q;ENSP00000439169:R26Q;ENSP00000452272:R26Q	ENSP00000299267:R111Q	R	-	2	0	GABRB3	24417683	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.665000	0.83852	2.752000	0.94435	0.467000	0.42956	CGA		0.448	GABRB3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251352.2			7	52	0	0	0	1	0	7	52					T	26866590	C	T	26866590	3	4	290	1	0	0	0	0	1	0	0	0	6168	884	31	2	1113	2	GABRB3	15	26866590	Missense_Mutation	SNP	C	TCGA-J9-A8CL-01A-11D-A34U-08		26866590	75664802	53	13991											
E4F1	1877	broad.mit.edu	37	chr16	2284613	2284613	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	caggtgcacttcaggacacaCctggaggagaagccgcacgt	11	5	13	12	2	1	1	1	0	0	1	1	4	1	3	2	4	2	2	2	4	1	1			TCGA-J9-A8CL-01A-11D-A34U-08	TCGA-J9-A8CL-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1f9f2e-7a09-4e2d-bb99-c881a34a8da2	e5a23b9d-18a0-4cb4-8743-3d53fc3c45b4	g.chr16:2284613C>T	ENST00000301727.4	+	11	1671	c.1623C>T	c.(1621-1623)caC>caT	p.H541H	DNASE1L2_ENST00000320700.5_5'Flank|DNASE1L2_ENST00000567494.1_5'Flank|DNASE1L2_ENST00000564065.1_5'Flank|E4F1_ENST00000564139.1_Silent_p.H541H|DNASE1L2_ENST00000382437.4_5'Flank|E4F1_ENST00000565090.1_Intron|RP11-304L19.12_ENST00000564055.1_lincRNA	NM_004424.3	NP_004415.2	Q66K89	E4F1_HUMAN	E4F transcription factor 1	541	Interaction with BMI1.|Mediates interaction with CDKN2A.|Mediates interaction with TP53.				cell proliferation (GO:0008283)|DNA replication (GO:0006260)|mitotic cell cycle arrest (GO:0071850)|mitotic nuclear division (GO:0007067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|protein ubiquitination (GO:0016567)|regulation of cell cycle process (GO:0010564)|regulation of growth (GO:0040008)|regulation of mitotic cell cycle, embryonic (GO:0009794)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|spindle (GO:0005819)	cAMP response element binding (GO:0035497)|DNA binding (GO:0003677)|ligase activity (GO:0016874)|metal ion binding (GO:0046872)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			ovary(1)	1						TCAGGACACACCTGGAGGAGA	0.632																																						ENST00000301727.4																			0				ovary(1)	1						c.(1621-1623)caC>caT		E4F transcription factor 1							24	21	22					16																	2284613		2185	4292	6477	SO:0001819	synonymous_variant	1877				cell division|cell proliferation|interspecies interaction between organisms|mitosis|regulation of growth	cytoplasm|nucleoplasm	DNA binding|ligase activity|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding	g.chr16:2284613C>T	U87269	CCDS32370.1, CCDS73809.1, CCDS73810.1	16p13.3	2013-01-08				ENSG00000167967		"Zinc fingers, C2H2-type"	3121	protein-coding gene	gene with protein product		603022				9763670, 8828041	Standard	XM_005255155		Approved	E4F	uc002cpm.3	Q66K89		ENST00000301727.4:c.1623C>T	16.37:g.2284613C>T						E4F1_ENST00000564139.1_Silent_p.H541H|E4F1_ENST00000565090.1_Intron	p.H541H	NM_004424.3	NP_004415.2	Q66K89	E4F1_HUMAN			11	1671	+			541			Interaction with BMI1.|Mediates interaction with CDKN2A.|Mediates interaction with TP53.		A8K2R4|O00146	Silent	SNP	ENST00000301727.4	37	c.1623C>T	CCDS32370.1																																																																																				0.632	E4F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435225.1	NM_004424		3	8	0	0	0	1	0	3	8					T	2284613	C	T	2284613	2	4	290	1	0	0	0	0	0	0	0	1	4874	506	18	3		3	E4F1	16	2284613	Silent	SNP	C	TCGA-J9-A8CL-01A-11D-A34U-08		2284613	88070140	54	13992											
ITGAD	3681	broad.mit.edu	37	chr16	31409184	31409184	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aagggttcctgcctcctgctGggctcgcgctgggagatcat	5	10	14	12	2	1	1	1	0	0	1	4	2	3	1	3	3	2	4	3	3	1	1			TCGA-J9-A8CL-01A-11D-A34U-08	TCGA-J9-A8CL-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1f9f2e-7a09-4e2d-bb99-c881a34a8da2	e5a23b9d-18a0-4cb4-8743-3d53fc3c45b4	g.chr16:31409184G>T	ENST00000389202.2	+	5	430	c.381G>T	c.(379-381)ctG>ctT	p.L127L		NM_005353.2	NP_005344.2	Q13349	ITAD_HUMAN	integrin, alpha D	127					activated T cell proliferation (GO:0050798)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|immune response (GO:0006955)|integrin-mediated signaling pathway (GO:0007229)	cell surface (GO:0009986)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)	p.G128C(1)		breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						GCCTCCTGCTGGGCTCGCGCT	0.642																																						ENST00000389202.2																			1	Substitution - Missense(1)	p.G128C(1)	lung(1)	breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						c.(379-381)ctG>ctT		integrin, alpha D							41	36	38					16																	31409184		2197	4300	6497	SO:0001819	synonymous_variant	3681				cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway	integrin complex	receptor activity	g.chr16:31409184G>T	U40274	CCDS32438.1	16p13.1-p11	2010-03-23				ENSG00000156886		"CD molecules", "Integrins"	6146	protein-coding gene	gene with protein product		602453				8666289, 9598326	Standard	NM_005353		Approved	CD11d, ADB2	uc002ebv.1	Q13349		ENST00000389202.2:c.381G>T	16.37:g.31409184G>T							p.L127L	NM_005353.2	NP_005344.2	Q13349	ITAD_HUMAN			5	430	+			127					Q15575|Q15576	Silent	SNP	ENST00000389202.2	37	c.381G>T	CCDS32438.1	.	.	.	.	.	.	.	.	.	.	G	10.53	1.376801	0.24857	.	.	ENSG00000156886	ENST00000316569	.	.	.	3.93	2.95	0.34219	.	.	.	.	.	T	0.48241	0.1489	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.22800	-1.0206	5	0.11794	T	0.64	.	11.6388	0.51220	0.0:0.1807:0.8192:0.0	.	.	.	.	L	35	.	ENSP00000323325:W35L	W	+	2	0	ITGAD	31316685	0.972000	0.33761	0.186000	0.23195	0.586000	0.36452	0.683000	0.25349	0.944000	0.37579	0.655000	0.94253	TGG		0.642	ITGAD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432836.1	NM_005353		5	17	1	0	0.184627	1	0.188823	5	17					T	31409184	G	T	31409184	2	4	290	1	0	0	0	0	0	0	0	1	7884	1335	47	5		5	ITGAD	16	31409184	Silent	SNP	G	TCGA-J9-A8CL-01A-11D-A34U-08	29124571	31409184	58945569	55	13993											
CDRT1	374286	broad.mit.edu	37	chr17	15522583	15522583	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gttatagatgaaatcctttcCctgtgtggtctgaaggatat	10	15	10	6	0	1	3	0	2	1	1	3	4	3	4	2	2	0	1	2	2	5	4			TCGA-J9-A8CL-01A-11D-A34U-08	TCGA-J9-A8CL-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1f9f2e-7a09-4e2d-bb99-c881a34a8da2	e5a23b9d-18a0-4cb4-8743-3d53fc3c45b4	g.chr17:15522583C>T	ENST00000395906.3	-	1	243	c.244G>A	c.(244-246)Gga>Aga	p.G82R	RP11-385D13.1_ENST00000455584.2_Intron	NM_006382.3	NP_006373.2	O95170	CDRT1_HUMAN	CMT1A duplicated region transcript 1	82										endometrium(2)|kidney(1)|large_intestine(4)|lung(1)|stomach(1)|upper_aerodigestive_tract(1)	10				UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)|READ - Rectum adenocarcinoma(2;1.36e-05)|BRCA - Breast invasive adenocarcinoma(8;0.0541)		AAATCCTTTCCCTGTGTGGTC	0.398																																						ENST00000395906.3																			0				endometrium(2)|kidney(1)|large_intestine(4)|lung(1)|stomach(1)|upper_aerodigestive_tract(1)	10						c.(244-246)Gga>Aga		CMT1A duplicated region transcript 1							83	89	87					17																	15522583		2201	4297	6498	SO:0001583	missense	374286							g.chr17:15522583C>T	U65652	CCDS45619.1, CCDS73996.1	17p11	2013-01-10			ENSG00000241322	ENSG00000241322		"F-boxes / WD-40 domains", "WD repeat domain containing"	14379	protein-coding gene	gene with protein product		604596	"F-box and WD repeat domain containing 10 pseudogene 1", "F-box and WD-40 domain protein 10 pseudogene 1"	FBXW10P1		9787083, 11381029	Standard	NM_006382		Approved	HREP, SM25H2, FBXW10B		O95170	OTTHUMG00000059074	ENST00000395906.3:c.244G>A	17.37:g.15522583C>T	ENSP00000379242:p.Gly82Arg					RP11-385D13.1_ENST00000455584.2_Intron	p.G82R	NM_006382.3	NP_006373.2	O95170	CDRT1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)|READ - Rectum adenocarcinoma(2;1.36e-05)|BRCA - Breast invasive adenocarcinoma(8;0.0541)	1	243	-			82					O43848|O95611	Missense_Mutation	SNP	ENST00000395906.3	37	c.244G>A	CCDS45619.1	.	.	.	.	.	.	.	.	.	.	.	16.95	3.262530	0.59431	.	.	ENSG00000251537	ENST00000261644;ENST00000395906	T	0.26067	1.76	4.92	4.92	0.64577	.	.	.	.	.	T	0.44891	0.1315	L	0.59436	1.845	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.28235	-1.0050	9	0.49607	T	0.09	.	11.5517	0.50725	0.0:0.9118:0.0:0.0882	.	82	O95170	CDRT1_HUMAN	R	82	ENSP00000379242:G82R	ENSP00000261644:G82R	G	-	1	0	RP11-385D13.1	15463308	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	3.106000	0.50322	2.441000	0.82636	0.484000	0.47621	GGA		0.398	CDRT1-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448127.1	NM_006382		4	126	0	0	0	1	0	4	126					T	15522583	C	T	15522583	3	4	290	1	0	0	0	0	1	0	0	0	3174	632	22	3	2062	3	CDRT1	17	15522583	Missense_Mutation	SNP	C	TCGA-J9-A8CL-01A-11D-A34U-08		15522583	65672627	56	13994											
COG1	9382	broad.mit.edu	37	chr17	71189377	71189377	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agatggtgggcgaacggtacCgcgacctgatcgaggcggcc	8	5	17	11	6	0	2	0	1	0	1	1	5	0	2	3	5	2	1	3	5	2	1			TCGA-J9-A8CL-01A-11D-A34U-08	TCGA-J9-A8CL-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1f9f2e-7a09-4e2d-bb99-c881a34a8da2	e5a23b9d-18a0-4cb4-8743-3d53fc3c45b4	g.chr17:71189377C>T	ENST00000299886.4	+	1	249	c.169C>T	c.(169-171)Cgc>Tgc	p.R57C	RP11-143K11.5_ENST00000580671.1_RNA	NM_018714.2	NP_061184.1	Q8WTW3	COG1_HUMAN	component of oligomeric golgi complex 1	57					Golgi organization (GO:0007030)|intra-Golgi vesicle-mediated transport (GO:0006891)|protein transport (GO:0015031)	Golgi apparatus (GO:0005794)|Golgi transport complex (GO:0017119)|membrane (GO:0016020)				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18			LUSC - Lung squamous cell carcinoma(166;0.197)			CGAACGGTACCGCGACCTGAT	0.697																																						ENST00000299886.4																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						c.(169-171)Cgc>Tgc		component of oligomeric golgi complex 1							29	29	29					17																	71189377		2194	4293	6487	SO:0001583	missense	9382				Golgi organization|intra-Golgi vesicle-mediated transport|protein transport	Golgi membrane|Golgi transport complex	protein binding	g.chr17:71189377C>T		CCDS11692.1	17q25.1	2008-05-14	2002-05-28	2002-05-31		ENSG00000166685		"Components of oligomeric golgi complex"	6545	protein-coding gene	gene with protein product		606973	"low density lipoprotein receptor defect B complementing"	LDLB		9927668	Standard	NM_018714		Approved	KIAA1381	uc002jjg.3	Q8WTW3		ENST00000299886.4:c.169C>T	17.37:g.71189377C>T	ENSP00000299886:p.Arg57Cys					RP11-143K11.5_ENST00000580671.1_RNA	p.R57C	NM_018714.2	NP_061184.1	Q8WTW3	COG1_HUMAN	LUSC - Lung squamous cell carcinoma(166;0.197)		1	249	+			57					Q9NPV9|Q9P2G6	Missense_Mutation	SNP	ENST00000299886.4	37	c.169C>T	CCDS11692.1	.	.	.	.	.	.	.	.	.	.	C	17.79	3.476115	0.63737	.	.	ENSG00000166685	ENST00000438720;ENST00000299886	T;T	0.59364	0.27;0.31	3.74	3.74	0.42951	.	0.000000	0.85682	D	0.000000	T	0.79364	0.4433	M	0.88775	2.98	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.84942	0.0866	10	0.87932	D	0	-18.6452	16.0763	0.80971	0.0:1.0:0.0:0.0	.	57;57;57	E9PBL8;Q8WTW3;Q4G0L8	.;COG1_HUMAN;.	C	57	ENSP00000400111:R57C;ENSP00000299886:R57C	ENSP00000299886:R57C	R	+	1	0	COG1	68700972	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.805000	0.75191	2.075000	0.62263	0.484000	0.47621	CGC		0.697	COG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441638.1			3	14	0	0	0	1	0	3	14					T	71189377	C	T	71189377	3	4	290	1	0	0	0	0	1	0	0	0	3657	652	23	2	171	2	COG1	17	71189377	Missense_Mutation	SNP	C	TCGA-J9-A8CL-01A-11D-A34U-08	55666794	71189377	10005833	57	13995											
NETO1	81832	broad.mit.edu	37	chr18	70526274	70526274	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggttcaatagagtacttttCatcaaagtaaagttcaatgc	14	13	7	7	1	4	1	4	0	0	1	4	1	4	1	0	1	2	4	0	1	7	7			TCGA-J9-A8CL-01A-11D-A34U-08	TCGA-J9-A8CL-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1f9f2e-7a09-4e2d-bb99-c881a34a8da2	e5a23b9d-18a0-4cb4-8743-3d53fc3c45b4	g.chr18:70526274C>A	ENST00000327305.6	-	4	913	c.256G>T	c.(256-258)Gaa>Taa	p.E86*	NETO1_ENST00000580049.1_5'UTR|NETO1_ENST00000299430.2_Nonsense_Mutation_p.E85*|NETO1_ENST00000397929.1_Nonsense_Mutation_p.E85*|NETO1_ENST00000583169.1_Nonsense_Mutation_p.E86*	NM_138966.3	NP_620416	Q8TDF5	NETO1_HUMAN	neuropilin (NRP) and tolloid (TLL)-like 1	86	CUB 1. {ECO:0000255|PROSITE- ProRule:PRU00059}.				memory (GO:0007613)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|receptor localization to synapse (GO:0097120)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|visual learning (GO:0008542)	cell junction (GO:0030054)|excitatory synapse (GO:0060076)|extracellular region (GO:0005576)|kainate selective glutamate receptor complex (GO:0032983)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)				NS(3)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(36)|ovary(2)|prostate(3)|skin(3)|stomach(1)	63		Esophageal squamous(42;0.129)		READ - Rectum adenocarcinoma(1;0.0487)		GAGTACTTTTCATCAAAGTAA	0.388																																						ENST00000327305.6																			0				NS(3)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(36)|ovary(2)|prostate(3)|skin(3)|stomach(1)	63						c.(256-258)Gaa>Taa		neuropilin (NRP) and tolloid (TLL)-like 1							68	66	67					18																	70526274		2203	4300	6503	SO:0001587	stop_gained	81832				memory|regulation of long-term neuronal synaptic plasticity|visual learning	cell junction|excitatory synapse|extracellular region|integral to membrane|postsynaptic density|postsynaptic membrane	receptor activity	g.chr18:70526274C>A	AF448838	CCDS12000.1, CCDS42444.1	18q22.2	2008-08-01			ENSG00000166342	ENSG00000166342			13823	protein-coding gene	gene with protein product		607973				11943477, 12810072	Standard	NM_138999		Approved	BTCL1, BCTL1	uc002lkw.3	Q8TDF5	OTTHUMG00000132834	ENST00000327305.6:c.256G>T	18.37:g.70526274C>A	ENSP00000313088:p.Glu86*					NETO1_ENST00000580049.1_5'UTR|NETO1_ENST00000397929.1_Nonsense_Mutation_p.E85*|NETO1_ENST00000299430.2_Nonsense_Mutation_p.E85*|NETO1_ENST00000583169.1_Nonsense_Mutation_p.E86*	p.E86*	NM_138966.3	NP_620416.1	Q8TDF5	NETO1_HUMAN		READ - Rectum adenocarcinoma(1;0.0487)	4	913	-		Esophageal squamous(42;0.129)	86			CUB 1.		Q86W85|Q8ND78|Q8TDF4	Nonsense_Mutation	SNP	ENST00000327305.6	37	c.256G>T	CCDS12000.1	.	.	.	.	.	.	.	.	.	.	C	42	9.398735	0.99159	.	.	ENSG00000166342	ENST00000327305;ENST00000299430;ENST00000397929	.	.	.	5.35	5.35	0.76521	.	0.000000	0.64402	D	0.000008	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.48119	T	0.1	-0.1438	19.438	0.94806	0.0:1.0:0.0:0.0	.	.	.	.	X	86;85;85	.	ENSP00000299430:E85X	E	-	1	0	NETO1	68677254	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.861000	0.69553	2.672000	0.90937	0.655000	0.94253	GAA		0.388	NETO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256301.2	NM_138999		30	47	1	0	1.39806e-14	1	1.63409e-14	30	47					A	70526274	C	A	70526274	4	1	290	1	0	0	0	0	0	1	0	0	10339	835	29	5	1382	5	NETO1	18	70526274	Nonsense_Mutation	SNP	C	TCGA-J9-A8CL-01A-11D-A34U-08		70526274	7550974	58	13996											
ADAMTS10	81794	broad.mit.edu	37	chr19	8651510	8651510	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gacctggtctggcccctgtcGcagttgaaaggtggtcccag	6	9	14	12	1	1	1	0	1	1	0	3	2	2	1	4	4	0	2	4	4	1	1			TCGA-J9-A8CL-01A-11D-A34U-08	TCGA-J9-A8CL-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1f9f2e-7a09-4e2d-bb99-c881a34a8da2	e5a23b9d-18a0-4cb4-8743-3d53fc3c45b4	g.chr19:8651510G>A	ENST00000597188.1	-	20	2605	c.2335C>T	c.(2335-2337)Cga>Tga	p.R779*	ADAMTS10_ENST00000270328.4_Nonsense_Mutation_p.R779*|ADAMTS10_ENST00000595838.1_Nonsense_Mutation_p.R266*	NM_030957.2	NP_112219.3	Q9H324	ATS10_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 10	779	Spacer.					extracellular matrix (GO:0031012)|microfibril (GO:0001527)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.R779*(1)		NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(16)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(3)|skin(10)|urinary_tract(1)	53						GGCCCCTGTCGCAGTTGAAAG	0.642											OREG0025221	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000270328.4																			1	Substitution - Nonsense(1)	p.R779*(1)	large_intestine(1)	NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(16)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(3)|skin(10)|urinary_tract(1)	53						c.(2335-2337)Cga>Tga		ADAM metallopeptidase with thrombospondin type 1 motif, 10							62	67	65					19																	8651510		2203	4300	6503	SO:0001587	stop_gained	81794				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr19:8651510G>A	AF163762	CCDS12206.1, CCDS62529.1	19p13.2	2014-08-12	2005-08-19		ENSG00000142303	ENSG00000142303		"ADAM metallopeptidases with thrombospondin type 1 motif"	13201	protein-coding gene	gene with protein product		608990	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 10"				Standard	XM_005272499		Approved	ADAM-TS10	uc002mkj.1	Q9H324	OTTHUMG00000182216	ENST00000597188.1:c.2335C>T	19.37:g.8651510G>A	ENSP00000471851:p.Arg779*		OREG0025221	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	81	ADAMTS10_ENST00000595838.1_Nonsense_Mutation_p.R266*|ADAMTS10_ENST00000597188.1_Nonsense_Mutation_p.R779*	p.R779*			Q9H324	ATS10_HUMAN			19	2601	-			779			Spacer.		M0QZE4	Nonsense_Mutation	SNP	ENST00000597188.1	37	c.2335C>T	CCDS12206.1	.	.	.	.	.	.	.	.	.	.	G	43	10.365526	0.99392	.	.	ENSG00000142303	ENST00000270328;ENST00000393912	.	.	.	4.92	4.92	0.64577	.	0.070235	0.53938	U	0.000052	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.10636	T	0.68	.	17.1157	0.86688	0.0:0.0:1.0:0.0	.	.	.	.	X	779;533	.	ENSP00000270328:R779X	R	-	1	2	ADAMTS10	8557510	0.999000	0.42202	0.998000	0.56505	0.988000	0.76386	0.952000	0.29149	2.276000	0.75962	0.655000	0.94253	CGA		0.642	ADAMTS10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460085.3	NM_030957		19	55	0	0	0	1	0	19	55					A	8651510	G	A	8651510	4	1	290	1	0	0	0	0	0	1	0	0	256	1095	38	1	1004	1	ADAMTS10	19	8651510	Nonsense_Mutation	SNP	G	TCGA-J9-A8CL-01A-11D-A34U-08		8651510	50477473	59	13997											
ZNF99	7652	broad.mit.edu	37	chr19	22941153	22941153	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttttctaagggctgagaaatGcttaaaagctttgccacatt	12	14	8	7	0	1	1	0	1	1	1	1	2	1	1	1	1	3	3	1	1	4	6			TCGA-J9-A8CL-01A-11D-A34U-08	TCGA-J9-A8CL-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1f9f2e-7a09-4e2d-bb99-c881a34a8da2	e5a23b9d-18a0-4cb4-8743-3d53fc3c45b4	g.chr19:22941153G>T	ENST00000596209.1	-	4	1648	c.1558C>A	c.(1558-1560)Cat>Aat	p.H520N	ZNF99_ENST00000397104.3_Missense_Mutation_p.H429N	NM_001080409.2	NP_001073878.2	A8MXY4	ZNF99_HUMAN	zinc finger protein 99	520					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				GCTGAGAAATGCTTAAAAGCT	0.348																																						ENST00000397104.3																			0				NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124						c.(1285-1287)Cat>Aat		zinc finger protein 99							36	37	37					19																	22941153		2010	4189	6199	SO:0001583	missense	7652							g.chr19:22941153G>T	BC021822	CCDS59369.1	19p12	2013-01-08	2006-01-17		ENSG00000213973	ENSG00000213973		"Zinc fingers, C2H2-type", "-"	13175	protein-coding gene	gene with protein product		603981	"zinc finger protein 99 (F8281)", "chromosome 19 open reading frame 9"	C19orf9			Standard	NM_001080409		Approved	MGC24986	uc021urt.1	A8MXY4		ENST00000596209.1:c.1558C>A	19.37:g.22941153G>T	ENSP00000472969:p.His520Asn					ZNF99_ENST00000596209.1_Missense_Mutation_p.H520N	p.H429N							5	1284	-		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)						M0R335	Missense_Mutation	SNP	ENST00000596209.1	37	c.1285C>A	CCDS59369.1	.	.	.	.	.	.	.	.	.	.	-	0.161	-1.081278	0.01888	.	.	ENSG00000213973	ENST00000397104	T	0.10382	2.88	1.16	-0.372	0.12520	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.08268	0.0206	L	0.39633	1.23	0.09310	N	1	B	0.22683	0.073	B	0.25759	0.063	T	0.41197	-0.9522	9	0.25751	T	0.34	.	5.4325	0.16460	0.3788:0.0:0.6212:0.0	.	429	A8MXY4	ZNF99_HUMAN	N	429	ENSP00000380293:H429N	ENSP00000380293:H429N	H	-	1	0	ZNF99	22732993	0.000000	0.05858	0.003000	0.11579	0.190000	0.23558	-4.116000	0.00292	-0.259000	0.09432	0.194000	0.17425	CAT		0.348	ZNF99-001	NOVEL	not_best_in_genome_evidence|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000464591.1	XM_065124		19	31	1	0	6.94344e-10	1	8.01167e-10	19	31					T	22941153	G	T	22941153	3	4	290	1	0	0	0	0	1	0	0	0	18201	1319	46	5	1839	5	ZNF99	19	22941153	Missense_Mutation	SNP	G	TCGA-J9-A8CL-01A-11D-A34U-08	14289643	22941153	36187830	60	13998											
BFSP1	631	broad.mit.edu	37	chr20	17479638	17479638	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttataaagctgaatctcatcGtcataacactcatgggcact	13	12	6	10	1	3	1	3	1	1	0	5	1	3	1	0	1	2	2	0	1	5	3	rs370330055		TCGA-J9-A8CL-01A-11D-A34U-08	TCGA-J9-A8CL-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1f9f2e-7a09-4e2d-bb99-c881a34a8da2	e5a23b9d-18a0-4cb4-8743-3d53fc3c45b4	g.chr20:17479638G>A	ENST00000377873.3	-	6	822	c.783C>T	c.(781-783)gaC>gaT	p.D261D	BFSP1_ENST00000377868.2_Silent_p.D136D|BFSP1_ENST00000544874.1_Silent_p.D122D|BFSP1_ENST00000536626.1_Silent_p.D122D	NM_001195.3	NP_001186.1	Q12934	BFSP1_HUMAN	beaded filament structural protein 1, filensin	261	Coil 2.|Rod.				cell maturation (GO:0048469)|lens fiber cell development (GO:0070307)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|intermediate filament (GO:0005882)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)|structural constituent of eye lens (GO:0005212)			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(7)|prostate(2)|skin(1)|stomach(1)	18						GAATCTCATCGTCATAACACT	0.483																																						ENST00000377873.3																			0				central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(7)|prostate(2)|skin(1)|stomach(1)	18						c.(781-783)gaC>gaT		beaded filament structural protein 1, filensin		G	,	0,4406		0,0,2203	147	135	139		408,783	-3.9	0	20		139	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous,coding-synonymous	BFSP1	NM_001161705.1,NM_001195.3	,	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	,	136/541,261/666	17479638	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	631					cytoplasm|intermediate filament|membrane	structural constituent of cytoskeleton|structural constituent of eye lens	g.chr20:17479638G>A	Y16717	CCDS13126.1, CCDS54448.1, CCDS63229.1	20p12.1	2014-06-05			ENSG00000125864	ENSG00000125864		"Intermediate filaments type VI, eye lens intermediate filaments"	1040	protein-coding gene	gene with protein product		603307				9787085	Standard	NM_001161705		Approved	CP94, CP115, LIFL-H, filensin	uc002wpo.3	Q12934	OTTHUMG00000031940	ENST00000377873.3:c.783C>T	20.37:g.17479638G>A						BFSP1_ENST00000544874.1_Silent_p.D122D|BFSP1_ENST00000536626.1_Silent_p.D122D|BFSP1_ENST00000377868.2_Silent_p.D136D	p.D261D	NM_001195.3	NP_001186.1	Q12934	BFSP1_HUMAN			6	822	-			261			Coil 2.|Rod.		F5H0G1|O43595|O76034|O95676|Q8IVZ6|Q9HBX4	Silent	SNP	ENST00000377873.3	37	c.783C>T	CCDS13126.1																																																																																				0.483	BFSP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078119.6	NM_001195		11	102	0	0	0	1	0	11	102					A	17479638	G	A	17479638	2	1	290	1	0	0	0	0	0	0	0	1	1415	1136	40	1		1	BFSP1	20	17479638	Silent	SNP	G	TCGA-J9-A8CL-01A-11D-A34U-08		17479638	45545882	61	13999											
ACSS1	84532	broad.mit.edu	37	chr20	24993264	24993264	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tttgatgtcgtgggggtagcCaatgacagcactttctggta	8	13	13	7	1	1	2	0	2	1	0	2	2	1	2	1	3	2	3	1	3	3	4			TCGA-J9-A8CL-01A-11D-A34U-08	TCGA-J9-A8CL-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1f9f2e-7a09-4e2d-bb99-c881a34a8da2	e5a23b9d-18a0-4cb4-8743-3d53fc3c45b4	g.chr20:24993264C>T	ENST00000323482.4	-	12	1823	c.1744G>A	c.(1744-1746)Ggc>Agc	p.G582S	ACSS1_ENST00000542618.1_Missense_Mutation_p.G461S|ACSS1_ENST00000484396.1_5'Flank|ACSS1_ENST00000432802.2_Intron|ACSS1_ENST00000537502.1_Missense_Mutation_p.G499S	NM_001252675.1|NM_032501.3	NP_001239604.1|NP_115890.2	Q9NUB1	ACS2L_HUMAN	acyl-CoA synthetase short-chain family member 1	582					acetate biosynthetic process (GO:0019413)|acetyl-CoA biosynthetic process (GO:0006085)|acetyl-CoA biosynthetic process from acetate (GO:0019427)|ethanol oxidation (GO:0006069)|propionate biosynthetic process (GO:0019542)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	mitochondrial matrix (GO:0005759)	acetate-CoA ligase activity (GO:0003987)|AMP binding (GO:0016208)|ATP binding (GO:0005524)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	26					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	TGGGGGTAGCCAATGACAGCA	0.567																																						ENST00000537502.1																			0				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	26						c.(1495-1497)Ggc>Agc		acyl-CoA synthetase short-chain family member 1	Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)						162	162	162					20																	24993264		2203	4300	6503	SO:0001583	missense	84532				acetyl-CoA biosynthetic process|ethanol oxidation|xenobiotic metabolic process	mitochondrial matrix	acetate-CoA ligase activity|AMP binding|ATP binding|protein binding	g.chr20:24993264C>T		CCDS13167.1, CCDS58764.1, CCDS58765.1	20p11.23-p11.21	2012-07-13	2005-09-08	2005-09-08	ENSG00000154930	ENSG00000154930	6.2.1.1	"Acyl-CoA synthetase family"	16091	protein-coding gene	gene with protein product		614355	"acetyl-Coenzyme A synthetase 2 (AMP forming)-like"	ACAS2L			Standard	NM_032501		Approved	dJ568C11.3, AceCS2L, MGC33843	uc002wub.3	Q9NUB1	OTTHUMG00000032112	ENST00000323482.4:c.1744G>A	20.37:g.24993264C>T	ENSP00000316924:p.Gly582Ser					ACSS1_ENST00000432802.2_Intron|ACSS1_ENST00000542618.1_Missense_Mutation_p.G461S|ACSS1_ENST00000323482.4_Missense_Mutation_p.G582S	p.G499S			Q9NUB1	ACS2L_HUMAN			10	3026	-			582					B3KXL2|B4DJZ3|D3DW48|F5H6F4|F8W7Y1|Q5TF42|Q8IV99|Q8N234|Q96JI1|Q96JX6|Q9NU28	Missense_Mutation	SNP	ENST00000323482.4	37	c.1495G>A	CCDS13167.1	.	.	.	.	.	.	.	.	.	.	C	27.7	4.850944	0.91277	.	.	ENSG00000154930	ENST00000323482;ENST00000376727;ENST00000537502;ENST00000542618	T;T;T	0.65178	-0.14;-0.14;-0.14	4.99	4.04	0.47022	.	0.049102	0.85682	N	0.000000	T	0.75810	0.3900	M	0.88842	2.985	0.80722	D	1	P;P;P;P	0.52692	0.896;0.911;0.855;0.955	B;P;P;P	0.53313	0.362;0.723;0.533;0.66	T	0.80964	-0.1147	10	0.87932	D	0	-19.1382	12.3482	0.55132	0.0:0.9168:0.0:0.0832	.	377;580;582;499	E9PC79;Q9NUB1-2;Q9NUB1;Q6ZV30	.;.;ACS2L_HUMAN;.	S	582;377;499;461	ENSP00000316924:G582S;ENSP00000439304:G499S;ENSP00000437657:G461S	ENSP00000316924:G582S	G	-	1	0	ACSS1	24941264	1.000000	0.71417	0.998000	0.56505	0.930000	0.56654	4.505000	0.60421	1.228000	0.43614	0.561000	0.74099	GGC		0.567	ACSS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078386.2	NM_032501		29	61	0	0	0	1	0	29	61					T	24993264	C	T	24993264	3	4	290	1	0	0	0	0	1	0	0	0	188	594	21	3	337	3	ACSS1	20	24993264	Missense_Mutation	SNP	C	TCGA-J9-A8CL-01A-11D-A34U-08	7513626	24993264	38032256	62	14000											
PTGIS	5740	broad.mit.edu	37	chr20	48166725	48166725	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggggaggctcaccaggtcGcctacagaagccatggcact	10	5	13	13	1	1	1	1	0	0	1	2	2	1	2	3	5	2	2	3	5	2	1	rs147584032	byFrequency	TCGA-J9-A8CL-01A-11D-A34U-08	TCGA-J9-A8CL-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1f9f2e-7a09-4e2d-bb99-c881a34a8da2	e5a23b9d-18a0-4cb4-8743-3d53fc3c45b4	g.chr20:48166725G>A	ENST00000244043.4	-	2	105	c.76C>T	c.(76-78)Cga>Tga	p.R26*	PTGIS_ENST00000478971.1_5'UTR	NM_000961.3	NP_000952.1	Q16647	PTGIS_HUMAN	prostaglandin I2 (prostacyclin) synthase	26					apoptotic signaling pathway (GO:0097190)|arachidonic acid metabolic process (GO:0019369)|cellular response to hypoxia (GO:0071456)|cellular response to interleukin-1 (GO:0071347)|cellular response to interleukin-6 (GO:0071354)|cyclooxygenase pathway (GO:0019371)|icosanoid metabolic process (GO:0006690)|negative regulation of inflammatory response (GO:0050728)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of nitric oxide biosynthetic process (GO:0045019)|positive regulation of angiogenesis (GO:0045766)|positive regulation of execution phase of apoptosis (GO:1900119)|positive regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035360)|prostaglandin biosynthetic process (GO:0001516)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	caveola (GO:0005901)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen (GO:0016705)|prostaglandin-I synthase activity (GO:0008116)			endometrium(1)|kidney(1)|large_intestine(7)|lung(6)|ovary(3)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	27			BRCA - Breast invasive adenocarcinoma(12;2.37e-05)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		Epoprostenol(DB01240)|Phenylbutazone(DB00812)	TCACCAGGTCGCCTACAGAAG	0.542																																						ENST00000244043.4																			0				endometrium(1)|kidney(1)|large_intestine(7)|lung(6)|ovary(3)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	27	GRCh37	CM972993	PTGIS	M	rs147584032	c.e2-1		prostaglandin I2 (prostacyclin) synthase	Phenylbutazone(DB00812)						66	60	62					20																	48166725		2203	4300	6503	SO:0001630	splice_region_variant	5740				hormone biosynthetic process|prostaglandin biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|prostaglandin-I synthase activity	g.chr20:48166725G>A		CCDS13419.1	20q13	2013-11-18			ENSG00000124212	ENSG00000124212	5.3.99.4	"Cytochrome P450s"	9603	protein-coding gene	gene with protein product	"cytochrome P450, family 8, subfamily A, polypeptide 1"	601699				8812456	Standard	NM_000961		Approved	PGIS, CYP8A1	uc002xut.3	Q16647	OTTHUMG00000033077	ENST00000244043.4:c.75-1C>T	20.37:g.48166725G>A						PTGIS_ENST00000478971.1_5'UTR	p.R26_splice	NM_000961.3	NP_000952.1	Q16647	PTGIS_HUMAN	BRCA - Breast invasive adenocarcinoma(12;2.37e-05)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		2	105	-			26					Q3MII8|Q9HAX2|Q9HAX3|Q9HAX4	Splice_Site	SNP	ENST00000244043.4	37	c.74_splice	CCDS13419.1	.	.	.	.	.	.	.	.	.	.	G	14.07	2.425905	0.43020	.	.	ENSG00000124212	ENST00000244043	.	.	.	4.82	2.5	0.30297	.	0.378699	0.25112	N	0.033051	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-26.1244	12.9552	0.58424	0.0:0.0:0.648:0.3519	.	.	.	.	X	26	.	ENSP00000244043:R26X	R	-	1	2	PTGIS	47600132	0.992000	0.36948	1.000000	0.80357	0.012000	0.07955	0.829000	0.27449	0.936000	0.37367	0.462000	0.41574	CGA		0.542	PTGIS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080496.2		Nonsense_Mutation	9	37	0	0	0	1	0	9	37					A	48166725	G	A	48166725	5	1	290	1	0	0	0	0	0	0	1	0	12752	1101	38	1	1462	1	PTGIS	20	48166725	Splice_Site	SNP	G	TCGA-J9-A8CL-01A-11D-A34U-08	23173461	48166725	14858795	63	14001											
BRD1	23774	broad.mit.edu	37	chr22	50217771	50217771	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcactcatctcttgagcagtGaggtcatcttccaatatgat	10	14	7	10	0	5	3	3	3	2	0	7	3	6	3	1	1	1	1	1	1	2	3			TCGA-J9-A8CL-01A-11D-A34U-08	TCGA-J9-A8CL-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1f9f2e-7a09-4e2d-bb99-c881a34a8da2	e5a23b9d-18a0-4cb4-8743-3d53fc3c45b4	g.chr22:50217771G>A	ENST00000216267.8	-	1	681	c.195C>T	c.(193-195)ctC>ctT	p.L65L	BRD1_ENST00000404034.1_Silent_p.L65L|BRD1_ENST00000459821.1_5'Flank|BRD1_ENST00000542442.1_5'Flank|BRD1_ENST00000342989.5_5'Flank|BRD1_ENST00000404760.1_Silent_p.L65L|BRD1_ENST00000457780.2_Silent_p.L65L	NM_014577.1	NP_055392.1	O95696	BRD1_HUMAN	bromodomain containing 1	65					histone H3 acetylation (GO:0043966)	MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleus (GO:0005634)	histone binding (GO:0042393)|zinc ion binding (GO:0008270)			endometrium(6)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	37		all_cancers(38;6.11e-10)|all_epithelial(38;8.06e-09)|all_lung(38;6.64e-05)|Lung NSC(38;0.0011)|Breast(42;0.00235)|Ovarian(80;0.0139)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0369)|BRCA - Breast invasive adenocarcinoma(115;0.21)		CTTGAGCAGTGAGGTCATCTT	0.458																																						ENST00000216267.8																			0				endometrium(6)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	37						c.(193-195)ctC>ctT		bromodomain containing 1							121	118	119					22																	50217771		2203	4300	6503	SO:0001819	synonymous_variant	23774				histone H3 acetylation	MOZ/MORF histone acetyltransferase complex	zinc ion binding	g.chr22:50217771G>A	AF005067	CCDS14080.1	22q13.33	2008-07-01	2002-01-14		ENSG00000100425	ENSG00000100425			1102	protein-coding gene	gene with protein product	"BR140-like"	604589	"bromodomain-containing 1"			10591208, 10602503	Standard	NM_014577		Approved	BRL, BRPF2	uc003biv.3	O95696	OTTHUMG00000150288	ENST00000216267.8:c.195C>T	22.37:g.50217771G>A						BRD1_ENST00000404034.1_Silent_p.L65L|BRD1_ENST00000404760.1_Silent_p.L65L|BRD1_ENST00000457780.2_Silent_p.L65L	p.L65L	NM_014577.1	NP_055392.1	O95696	BRD1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.0369)|BRCA - Breast invasive adenocarcinoma(115;0.21)	1	681	-		all_cancers(38;6.11e-10)|all_epithelial(38;8.06e-09)|all_lung(38;6.64e-05)|Lung NSC(38;0.0011)|Breast(42;0.00235)|Ovarian(80;0.0139)|Lung SC(80;0.164)	65					A6ZJA4	Silent	SNP	ENST00000216267.8	37	c.195C>T	CCDS14080.1																																																																																				0.458	BRD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317402.1	NM_014577		35	48	0	0	0	1	0	35	48					A	50217771	G	A	50217771	2	1	290	1	0	0	0	0	0	0	0	1	1501	1277	45	3		3	BRD1	22	50217771	Silent	SNP	G	TCGA-J9-A8CL-01A-11D-A34U-08		50217771	1086795	64	14002											
RPS6KA3	6197	broad.mit.edu	37	chrX	20190906	20190906	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtagctttatgtatacatctCttgcaaacagagtaggagcc	12	12	9	8	0	1	1	0	0	1	1	2	2	1	2	1	1	5	5	1	1	6	7			TCGA-J9-A8CL-01A-11D-A34U-08	TCGA-J9-A8CL-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1f9f2e-7a09-4e2d-bb99-c881a34a8da2	e5a23b9d-18a0-4cb4-8743-3d53fc3c45b4	g.chrX:20190906C>T	ENST00000379565.3	-	15	1518	c.1311G>A	c.(1309-1311)aaG>aaA	p.K437K	RPS6KA3_ENST00000479809.1_5'UTR|RPS6KA3_ENST00000544447.1_Silent_p.K409K|RPS6KA3_ENST00000379548.4_Silent_p.K407K|RPS6KA3_ENST00000540702.1_Silent_p.K408K	NM_004586.2	NP_004577.1	P51812	KS6A3_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 3	437	Protein kinase 2. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|cell cycle (GO:0007049)|central nervous system development (GO:0007417)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell growth (GO:0030307)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of DNA-templated transcription in response to stress (GO:0043620)|regulation of translation in response to stress (GO:0043555)|response to lipopolysaccharide (GO:0032496)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)|stress-activated MAPK cascade (GO:0051403)|synaptic transmission (GO:0007268)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|magnesium ion binding (GO:0000287)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(4)|central_nervous_system(4)|endometrium(3)|kidney(2)|large_intestine(5)|liver(14)|lung(7)|ovary(1)|stomach(1)	41					Acetylsalicylic acid(DB00945)	GTATACATCTCTTGCAAACAG	0.318																																						ENST00000379565.3																			0				breast(4)|central_nervous_system(4)|endometrium(3)|kidney(2)|large_intestine(5)|liver(14)|lung(7)|ovary(1)|stomach(1)	41						c.(1309-1311)aaG>aaA		ribosomal protein S6 kinase, 90kDa, polypeptide 3							72	59	64					X																	20190906		2201	4295	6496	SO:0001819	synonymous_variant	6197				axon guidance|central nervous system development|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|skeletal system development|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|caspase inhibitor activity|magnesium ion binding|protein serine/threonine kinase activity	g.chrX:20190906C>T	U08316	CCDS14197.1	Xp22.2-p22.1	2013-06-03	2002-08-29		ENSG00000177189	ENSG00000177189			10432	protein-coding gene	gene with protein product		300075	"ribosomal protein S6 kinase, 90kD, polypeptide 3", "mental retardation, X-linked 19", "Coffin-Lowry syndrome"	MRX19, CLS		8141249, 11896450, 16879200	Standard	XM_005274573		Approved	RSK, RSK2, HU-3	uc004czu.3	P51812	OTTHUMG00000021231	ENST00000379565.3:c.1311G>A	X.37:g.20190906C>T						RPS6KA3_ENST00000544447.1_Silent_p.K409K|RPS6KA3_ENST00000479809.1_5'UTR|RPS6KA3_ENST00000540702.1_Silent_p.K408K|RPS6KA3_ENST00000379548.4_Silent_p.K407K	p.K437K	NM_004586.2	NP_004577.1	P51812	KS6A3_HUMAN			15	1518	-			437			Protein kinase 2.		B2R9V4|Q4VAP3|Q59H26|Q5JPK8|Q7Z3Z7	Silent	SNP	ENST00000379565.3	37	c.1311G>A	CCDS14197.1																																																																																				0.318	RPS6KA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056011.3	NM_004586		8	22	0	0	0	1	0	8	22					T	20190906	C	T	20190906	2	4	290	1	0	0	0	0	0	0	0	1	13652	912	32	3		3	RPS6KA3	23	20190906	Silent	SNP	C	TCGA-J9-A8CL-01A-11D-A34U-08		20190906	135079654	65	14003											
DRP2	1821	broad.mit.edu	37	chrX	100511155	100511155	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tccagccccatcacagaccgGgagccagcctttggacagca	10	5	10	16	1	1	1	1	0	0	1	2	3	2	3	6	2	4	1	6	2	0	1			TCGA-J9-A8CL-01A-11D-A34U-08	TCGA-J9-A8CL-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1f9f2e-7a09-4e2d-bb99-c881a34a8da2	e5a23b9d-18a0-4cb4-8743-3d53fc3c45b4	g.chrX:100511155G>A	ENST00000395209.3	+	21	2822	c.2295G>A	c.(2293-2295)cgG>cgA	p.R765R	DRP2_ENST00000402866.1_Silent_p.R765R|DRP2_ENST00000538510.1_Silent_p.R765R|DRP2_ENST00000541709.1_Silent_p.R687R	NM_001939.2	NP_001930.2	Q13474	DRP2_HUMAN	dystrophin related protein 2	765					central nervous system development (GO:0007417)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)	p.R762R(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(10)|ovary(3)|prostate(1)|skin(2)|urinary_tract(2)	31						TCACAGACCGGGAGCCAGCCT	0.577																																						ENST00000395209.3																			1	Substitution - coding silent(1)	p.R762R(1)	prostate(1)	breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(10)|ovary(3)|prostate(1)|skin(2)|urinary_tract(2)	31						c.(2293-2295)cgG>cgA		dystrophin related protein 2							106	93	97					X																	100511155		2203	4300	6503	SO:0001819	synonymous_variant	1821				central nervous system development	cytoplasm|cytoskeleton	zinc ion binding	g.chrX:100511155G>A	U43519	CCDS14480.2, CCDS55465.1	Xq22	2008-02-05			ENSG00000102385	ENSG00000102385			3032	protein-coding gene	gene with protein product		300052				8640231	Standard	NM_001939		Approved		uc004egz.2	Q13474	OTTHUMG00000022020	ENST00000395209.3:c.2295G>A	X.37:g.100511155G>A						DRP2_ENST00000402866.1_Silent_p.R765R|DRP2_ENST00000538510.1_Silent_p.R765R|DRP2_ENST00000541709.1_Silent_p.R687R	p.R765R	NM_001939.2	NP_001930.2	Q13474	DRP2_HUMAN			21	2822	+			765					A6ZKI5|A8K1B0|B1B1F3|B4DIZ0	Silent	SNP	ENST00000395209.3	37	c.2295G>A	CCDS14480.2																																																																																				0.577	DRP2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057522.3	NM_001939		40	21	0	0	0	1	0	40	21					A	100511155	G	A	100511155	2	1	290	1	0	0	0	0	0	0	0	1	4764	1219	43	3		3	DRP2	23	100511155	Silent	SNP	G	TCGA-J9-A8CL-01A-11D-A34U-08	80320249	100511155	54759405	66	14004											
DOCK11	139818	broad.mit.edu	37	chrX	117742298	117742298	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aaacagtctgcagattttttAtcaataaacaaattgctaaa	18	13	4	6	0	2	1	1	0	1	1	2	1	2	1	0	0	4	2	0	0	8	6			TCGA-J9-A8CL-01A-11D-A34U-08	TCGA-J9-A8CL-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1f9f2e-7a09-4e2d-bb99-c881a34a8da2	e5a23b9d-18a0-4cb4-8743-3d53fc3c45b4	g.chrX:117742298A>G	ENST00000276202.7	+	26	2919	c.2856A>G	c.(2854-2856)ttA>ttG	p.L952L	DOCK11_ENST00000276204.6_Silent_p.L952L	NM_144658.3	NP_653259.3	Q5JSL3	DOC11_HUMAN	dedicator of cytokinesis 11	952					blood coagulation (GO:0007596)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	84						CAGATTTTTTATCAATAAACA	0.418																																						ENST00000276204.6																			0				breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	84						c.(2854-2856)ttA>ttG		dedicator of cytokinesis 11							66	66	66					X																	117742298		2203	4300	6503	SO:0001819	synonymous_variant	139818				blood coagulation	cytosol	GTP binding	g.chrX:117742298A>G	AK125641	CCDS35373.1	Xq24	2013-10-25			ENSG00000147251	ENSG00000147251		"Pleckstrin homology (PH) domain containing"	23483	protein-coding gene	gene with protein product	"zizimin2"	300681				12432077, 16968698	Standard	NM_144658		Approved	FLJ32122, FLJ43653, ZIZ2, ACG	uc004eqp.2	Q5JSL3	OTTHUMG00000022256	ENST00000276202.7:c.2856A>G	X.37:g.117742298A>G						DOCK11_ENST00000276202.7_Silent_p.L952L	p.L952L			Q5JSL3	DOC11_HUMAN			26	2930	+			952					A6NMF0|Q66M66|Q6ZUJ5|Q86VU8|Q96MN3	Silent	SNP	ENST00000276202.7	37	c.2856A>G	CCDS35373.1																																																																																				0.418	DOCK11-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000356002.1	NM_144658		27	99	0	0	0	1	0	27	99					G	117742298	A	G	117742298	2	3	290	1	0	0	0	0	0	0	0	1	4686	446	16	4		4	DOCK11	23	117742298	Silent	SNP	A	TCGA-J9-A8CL-01A-11D-A34U-08	17231143	117742298	37528262	67	14005											
HNRNPCL1	343069	broad.mit.edu	37	chr1	12907854	12907854	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccgctgctgatcgtttcaCacctgcgtttcctcggttca	4	14	8	15	4	2	1	2	1	0	0	6	1	4	1	3	1	2	5	3	1	0	3			TCGA-J9-A8CM-01A-11D-A34U-08	TCGA-J9-A8CM-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a01318-edcd-41e8-8be5-95fbc01e1e7e	b7b750a0-fdaa-42a2-b583-989423ec1b45	g.chr1:12907854C>T	ENST00000317869.6	-	2	514	c.289G>A	c.(289-291)Gtg>Atg	p.V97M		NM_001013631.1|NM_001136561.2|NM_001146181.1	NP_001013653.1|NP_001130033.2|NP_001139653.1	O60812	HNRC1_HUMAN	heterogeneous nuclear ribonucleoprotein C-like 1	97						nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|stomach(2)	29						GATCGTTTCACACCTGCGTTT	0.498																																						ENST00000317869.6																			0				NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|stomach(2)	29						c.(289-291)Gtg>Atg		heterogeneous nuclear ribonucleoprotein C-like 1							132	127	129					1																	12907854		2203	4300	6503	SO:0001583	missense	343069							g.chr1:12907854C>T	BC002696	CCDS30591.1	1p36.21	2013-02-12		2008-04-18	ENSG00000179172	ENSG00000179172		"RNA binding motif (RRM) containing"	29295	protein-coding gene	gene with protein product				HNRPCL1			Standard	NM_001013631		Approved			O60812	OTTHUMG00000001931	ENST00000317869.6:c.289G>A	1.37:g.12907854C>T	ENSP00000365370:p.Val97Met						p.V97M	NM_001013631.1|NM_001136561.2|NM_001146181.1	NP_001013653.1|NP_001130033.2|NP_001139653.1					2	514	-								B2RP44	Missense_Mutation	SNP	ENST00000317869.6	37	c.289G>A	CCDS30591.1	.	.	.	.	.	.	.	.	.	.	.	14.29	2.490334	0.44249	.	.	ENSG00000179172	ENST00000317869	T	0.10192	2.9	1.09	1.09	0.20402	Nucleotide-binding, alpha-beta plait (1);	2.008220	0.04692	U	0.414312	T	0.18759	0.0450	M	0.63843	1.955	0.35124	D	0.767304	B	0.34241	0.444	B	0.42882	0.401	T	0.33111	-0.9881	10	0.36615	T	0.2	.	8.1133	0.30928	0.0:1.0:0.0:0.0	.	97	O60812	HNRCL_HUMAN	M	97	ENSP00000365370:V97M	ENSP00000365370:V97M	V	-	1	0	HNRNPCL1	12830441	0.036000	0.19791	0.123000	0.21794	0.019000	0.09904	0.791000	0.26915	0.916000	0.36871	0.416000	0.27883	GTG		0.498	HNRNPCL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005462.1	NM_001013631		13	127	0	0	0	1	0	13	127					T	12907854	C	T	12907854	3	4	291	1	0	0	0	0	1	0	0	0	7263	478	17	3	594	3	HNRNPCL1	1	12907854	Missense_Mutation	SNP	C	TCGA-J9-A8CM-01A-11D-A34U-08		12907854	236342767	1	14006											
RSBN1	54665	broad.mit.edu	37	chr1	114308829	114308829	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggagtcaacttctaattctcGctttccagttaaaccacagt	11	13	6	11	1	3	0	1	0	2	0	5	1	4	1	2	1	2	2	2	1	4	5			TCGA-J9-A8CM-01A-11D-A34U-08	TCGA-J9-A8CM-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a01318-edcd-41e8-8be5-95fbc01e1e7e	b7b750a0-fdaa-42a2-b583-989423ec1b45	g.chr1:114308829G>T	ENST00000261441.5	-	7	2245	c.2182C>A	c.(2182-2184)Cga>Aga	p.R728R	RSBN1_ENST00000369581.2_5'UTR	NM_018364.3	NP_060834.2	Q5VWQ0	RSBN1_HUMAN	round spermatid basic protein 1	728						nucleus (GO:0005634)				breast(1)|endometrium(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(3)|urinary_tract(2)	29	Lung SC(450;0.184)	all_cancers(81;3.78e-08)|all_epithelial(167;5.56e-08)|all_lung(203;6.97e-06)|Lung NSC(69;1.18e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TCTAATTCTCGCTTTCCAGTT	0.418																																						ENST00000261441.5																			0				breast(1)|endometrium(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(3)|urinary_tract(2)	29						c.(2182-2184)Cga>Aga		round spermatid basic protein 1							219	202	208					1																	114308829		2203	4300	6503	SO:0001819	synonymous_variant	54665					nucleus		g.chr1:114308829G>T	AK002082	CCDS862.1	1p13.1	2008-02-05			ENSG00000081019	ENSG00000081019			25642	protein-coding gene	gene with protein product		615858				12477932	Standard	NM_018364		Approved	FLJ11220, ROSBIN	uc001edq.3	Q5VWQ0	OTTHUMG00000011938	ENST00000261441.5:c.2182C>A	1.37:g.114308829G>T						RSBN1_ENST00000369581.2_5'UTR	p.R728R	NM_018364.3	NP_060834.2	Q5VWQ0	RSBN1_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	7	2245	-	Lung SC(450;0.184)	all_cancers(81;3.78e-08)|all_epithelial(167;5.56e-08)|all_lung(203;6.97e-06)|Lung NSC(69;1.18e-05)	728					A8K937|Q6AI21|Q8TC33|Q9HA80|Q9NUP6	Silent	SNP	ENST00000261441.5	37	c.2182C>A	CCDS862.1																																																																																				0.418	RSBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033022.2	NM_018364		21	60	1	0	1.9806e-07	1	2.26047e-07	21	60					T	114308829	G	T	114308829	2	4	291	1	0	0	0	0	0	0	0	1	13696	1095	38	5		5	RSBN1	1	114308829	Silent	SNP	G	TCGA-J9-A8CM-01A-11D-A34U-08	101400975	114308829	134941792	2	14007											
SDHC	6391	broad.mit.edu	37	chr1	161326632	161326632	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gaatgggatccgacacttggTaagttaattcgggatttgca	11	12	12	6	2	0	0	0	0	0	0	2	4	1	2	1	3	1	3	1	3	3	5			TCGA-J9-A8CM-01A-11D-A34U-08	TCGA-J9-A8CM-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a01318-edcd-41e8-8be5-95fbc01e1e7e	b7b750a0-fdaa-42a2-b583-989423ec1b45	g.chr1:161326632T>C	ENST00000367975.2	+	5	554		c.e5+2		SDHC_ENST00000513009.1_Intron|SDHC_ENST00000342751.4_Intron|SDHC_ENST00000392169.2_Splice_Site|SDHC_ENST00000432287.2_Splice_Site|SDHC_ENST00000470743.3_Splice_Site	NM_003001.3	NP_002992.1	Q99643	C560_HUMAN	succinate dehydrogenase complex, subunit C, integral membrane protein, 15kDa						aerobic respiration (GO:0009060)|cellular metabolic process (GO:0044237)|oxidation-reduction process (GO:0055114)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex II (GO:0005749)|mitochondrion (GO:0005739)|respiratory chain complex II (GO:0045273)	electron carrier activity (GO:0009055)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|succinate dehydrogenase activity (GO:0000104)			urinary_tract(1)	1	all_cancers(52;6.96e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Succinic acid(DB00139)	CGACACTTGGTAAGTTAATTC	0.458			"Mis, N, F"			"paraganglioma, pheochromocytoma"			Familial Paragangliomas;Carney-Stratakis syndrome																													ENST00000367975.2			yes	Rec		Familial paraganglioma	1	1q21	6391	"Mis, N, F"	"succinate dehydrogenase complex, subunit C, integral membrane protein, 15kDa"			O		"paraganglioma, pheochromocytoma"			0				urinary_tract(1)	1						c.e5+2		succinate dehydrogenase complex, subunit C, integral membrane protein, 15kDa	Succinic acid(DB00139)						111	104	106					1																	161326632		2203	4300	6503	SO:0001630	splice_region_variant	6391	Familial Paragangliomas;Carney-Stratakis syndrome	Familial Cancer Database	Hereditary Glomus Tumors, Familial Paragangliomas, Hereditary Paragangliomas, type 1-3: PGL1, PGL2, PGL3, incl. Familial Carotid Body Paraganglioma and Sensorineural Hearing Loss;Carney-Stratakis dyad, Paraganglioma-Gastric Stromal Sarcoma dyad	respiratory electron transport chain|transport|tricarboxylic acid cycle	integral to membrane|mitochondrial respiratory chain complex II|plasma membrane succinate dehydrogenase complex	electron carrier activity|heme binding|succinate dehydrogenase activity	g.chr1:161326632T>C	D49737	CCDS1230.1, CCDS41431.1, CCDS41432.1, CCDS44263.1, CCDS60330.1	1q23.3	2014-09-17	2002-08-29		ENSG00000143252	ENSG00000143252		"Mitochondrial respiratory chain complex / Complex II"	10682	protein-coding gene	gene with protein product		602413	"succinate dehydrogenase complex, subunit C, integral membrane protein, 15kD"	PGL3		9533030, 12658451	Standard	NM_001278172		Approved		uc001gag.3	Q99643	OTTHUMG00000034468	ENST00000367975.2:c.405+2T>C	1.37:g.161326632T>C						SDHC_ENST00000392169.2_Splice_Site|SDHC_ENST00000342751.4_Intron|SDHC_ENST00000470743.2_Splice_Site|SDHC_ENST00000432287.2_Splice_Site|SDHC_ENST00000513009.1_Intron		NM_003001.3	NP_002992.1	Q99643	C560_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00376)		5	554	+	all_cancers(52;6.96e-17)|all_hematologic(112;0.093)							O75609|Q3C259|Q3C2D8|Q3C2H4|Q5VTH3	Splice_Site	SNP	ENST00000367975.2	37		CCDS1230.1	.	.	.	.	.	.	.	.	.	.	T	19.51	3.840525	0.71488	.	.	ENSG00000143252	ENST00000367975;ENST00000432287;ENST00000392169	.	.	.	5.24	5.24	0.73138	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.3972	0.60861	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	SDHC	159593256	1.000000	0.71417	1.000000	0.80357	0.870000	0.49936	5.550000	0.67268	2.104000	0.64026	0.520000	0.50463	.		0.458	SDHC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083316.2	NM_003001	Intron	26	77	0	0	0	1	0	26	77					C	161326632	T	C	161326632	5	2	291	1	0	0	0	0	0	0	1	0	13966	1652	57	4	425	4	SDHC	1	161326632	Splice_Site	SNP	T	TCGA-J9-A8CM-01A-11D-A34U-08	47017803	161326632	87923989	3	14008											
LHX4	89884	broad.mit.edu	37	chr1	180235656	180235656	+	Silent	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgcaaccggcagctggccacGggggacgaattctacctcat	9	7	12	13	3	2	0	1	0	1	0	2	2	2	1	3	4	4	3	3	4	3	2			TCGA-J9-A8CM-01A-11D-A34U-08	TCGA-J9-A8CM-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a01318-edcd-41e8-8be5-95fbc01e1e7e	b7b750a0-fdaa-42a2-b583-989423ec1b45	g.chr1:180235656G>C	ENST00000263726.2	+	3	622	c.378G>C	c.(376-378)acG>acC	p.T126T		NM_033343.3	NP_203129.1	Q969G2	LHX4_HUMAN	LIM homeobox 4	126	LIM zinc-binding 2. {ECO:0000255|PROSITE- ProRule:PRU00125}.				medial motor column neuron differentiation (GO:0021526)|motor neuron axon guidance (GO:0008045)|negative regulation of apoptotic process (GO:0043066)|organ morphogenesis (GO:0009887)|placenta development (GO:0001890)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)	16						AGCTGGCCACGGGGGACGAAT	0.612																																						ENST00000263726.2																			0				endometrium(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)	16						c.(376-378)acG>acC		LIM homeobox 4							62	60	61					1																	180235656		2203	4300	6503	SO:0001819	synonymous_variant	89884					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr1:180235656G>C	AB037683	CCDS1338.1	1q25.3	2011-06-20			ENSG00000121454	ENSG00000121454		"Homeoboxes / LIM class"	21734	protein-coding gene	gene with protein product		602146				11844481, 11567216	Standard	NM_033343		Approved	Gsh4	uc001goe.2	Q969G2	OTTHUMG00000035115	ENST00000263726.2:c.378G>C	1.37:g.180235656G>C							p.T126T	NM_033343.3	NP_203129.1	Q969G2	LHX4_HUMAN			3	622	+			126			LIM zinc-binding 2.		Q8NHE0|Q8NHM1|Q8TCJ1|Q8WWX2|Q969W2	Silent	SNP	ENST00000263726.2	37	c.378G>C	CCDS1338.1																																																																																				0.612	LHX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084995.2	NM_033343		30	22	0	0	0	1	0	30	22					C	180235656	G	C	180235656	2	2	291	1	0	0	0	0	0	0	0	1	8773	1103	39	5		5	LHX4	1	180235656	Silent	SNP	G	TCGA-J9-A8CM-01A-11D-A34U-08	18909024	180235656	69014965	4	14009											
PTPRC	5788	broad.mit.edu	37	chr1	198711451	198711451	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaagtggatgtttatggttaTgttgtcaagctaaggcgaca	12	13	12	4	1	1	0	1	0	0	0	1	2	1	1	0	3	1	4	0	3	5	5			TCGA-J9-A8CM-01A-11D-A34U-08	TCGA-J9-A8CM-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a01318-edcd-41e8-8be5-95fbc01e1e7e	b7b750a0-fdaa-42a2-b583-989423ec1b45	g.chr1:198711451T>C	ENST00000367376.2	+	25	2817	c.2646T>C	c.(2644-2646)taT>taC	p.Y882Y	PTPRC_ENST00000352140.3_Silent_p.Y834Y|PTPRC_ENST00000442510.2_Silent_p.Y884Y|PTPRC_ENST00000348564.6_Silent_p.Y723Y|PTPRC_ENST00000594404.1_Silent_p.Y721Y	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	882	Tyrosine-protein phosphatase 1. {ECO:0000255|PROSITE-ProRule:PRU00160}.				axon guidance (GO:0007411)|B cell proliferation (GO:0042100)|B cell receptor signaling pathway (GO:0050853)|bone marrow development (GO:0048539)|cell cycle phase transition (GO:0044770)|cell surface receptor signaling pathway (GO:0007166)|defense response to virus (GO:0051607)|dephosphorylation (GO:0016311)|hematopoietic progenitor cell differentiation (GO:0002244)|immunoglobulin biosynthetic process (GO:0002378)|negative regulation of cell adhesion involved in substrate-bound cell migration (GO:0006933)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of T cell mediated cytotoxicity (GO:0001915)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of antigen receptor-mediated signaling pathway (GO:0050857)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of hematopoietic stem cell migration (GO:2000473)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of stem cell proliferation (GO:2000648)|positive regulation of T cell proliferation (GO:0042102)|protein dephosphorylation (GO:0006470)|regulation of cell cycle (GO:0051726)|release of sequestered calcium ion into cytosol (GO:0051209)|stem cell development (GO:0048864)|T cell differentiation (GO:0030217)|T cell receptor signaling pathway (GO:0050852)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						TTTATGGTTATGTTGTCAAGC	0.438																																						ENST00000367376.2																			0				breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						c.(2644-2646)taT>taC		protein tyrosine phosphatase, receptor type, C							228	216	220					1																	198711451		2203	4300	6503	SO:0001819	synonymous_variant	5788				axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway	focal adhesion|integral to plasma membrane|membrane raft	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr1:198711451T>C	Y00062	CCDS1397.1, CCDS1398.1, CCDS44291.1, CCDS1397.2, CCDS1398.2, CCDS44291.2	1q31-q32	2014-09-17			ENSG00000081237	ENSG00000081237		"CD molecules", "Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Fibronectin type III domain containing"	9666	protein-coding gene	gene with protein product		151460		CD45		2169617	Standard	NM_001267798		Approved	LCA, T200, GP180	uc001gur.2	P08575	OTTHUMG00000035702	ENST00000367376.2:c.2646T>C	1.37:g.198711451T>C						PTPRC_ENST00000442510.2_Silent_p.Y884Y|PTPRC_ENST00000352140.3_Silent_p.Y834Y|PTPRC_ENST00000348564.6_Silent_p.Y723Y|PTPRC_ENST00000594404.1_Silent_p.Y721Y	p.Y882Y	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN			25	2817	+			882			Tyrosine-protein phosphatase 1.		A8K7W6|Q16614|Q9H0Y6	Silent	SNP	ENST00000367376.2	37	c.2646T>C																																																																																					0.438	PTPRC-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding				17	91	0	0	0	1	0	17	91					C	198711451	T	C	198711451	2	2	291	1	0	0	0	0	0	0	0	1	12797	1471	51	4		4	PTPRC	1	198711451	Silent	SNP	T	TCGA-J9-A8CM-01A-11D-A34U-08	18475795	198711451	50539170	5	14010											
ZC3H11A	9877	broad.mit.edu	37	chr1	203787773	203787773	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcacattatggcaagaagggCgctgttttcgacaggtgtgc	9	10	14	8	2	0	1	0	0	0	1	1	2	0	1	0	3	1	4	0	3	3	3			TCGA-J9-A8CM-01A-11D-A34U-08	TCGA-J9-A8CM-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a01318-edcd-41e8-8be5-95fbc01e1e7e	b7b750a0-fdaa-42a2-b583-989423ec1b45	g.chr1:203787773C>G	ENST00000545588.1	+	3	3957	c.130C>G	c.(130-132)Cgc>Ggc	p.R44G	ZC3H11A_ENST00000367210.1_Missense_Mutation_p.R44G|ZC3H11A_ENST00000332127.4_Missense_Mutation_p.R44G|ZC3H11A_ENST00000367214.1_Missense_Mutation_p.R44G|ZC3H11A_ENST00000367212.3_Missense_Mutation_p.R44G	NM_001271675.1	NP_001258604.1	O75152	ZC11A_HUMAN	zinc finger CCCH-type containing 11A	44					poly(A)+ mRNA export from nucleus (GO:0016973)		metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32	all_cancers(21;0.0904)|all_epithelial(62;0.234)		BRCA - Breast invasive adenocarcinoma(75;0.109)			GCAAGAAGGGCGCTGTTTTCG	0.438																																						ENST00000545588.1																			0				central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32						c.(130-132)Cgc>Ggc		zinc finger CCCH-type containing 11A							126	109	114					1																	203787773		2203	4300	6503	SO:0001583	missense	9877						nucleic acid binding|protein binding|zinc ion binding	g.chr1:203787773C>G		CCDS30978.1	1q32.1	2012-07-05	2005-06-02	2005-06-02	ENSG00000058673	ENSG00000058673		"Zinc fingers, CCCH-type domain containing"	29093	protein-coding gene	gene with protein product		613513	"zinc finger CCCH-type domain containing 11A"	ZC3HDC11A		9734811	Standard	NM_014827		Approved	KIAA0663	uc001hac.3	O75152	OTTHUMG00000035909	ENST00000545588.1:c.130C>G	1.37:g.203787773C>G	ENSP00000438527:p.Arg44Gly					ZC3H11A_ENST00000367210.1_Missense_Mutation_p.R44G|ZC3H11A_ENST00000367214.1_Missense_Mutation_p.R44G|ZC3H11A_ENST00000367212.3_Missense_Mutation_p.R44G|ZC3H11A_ENST00000332127.4_Missense_Mutation_p.R44G	p.R44G	NM_001271675.1	NP_001258604.1	O75152	ZC11A_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.109)		3	3957	+	all_cancers(21;0.0904)|all_epithelial(62;0.234)		44					Q6AHY4|Q6AHY9|Q6AW79|Q6AWA1|Q6PJK4|Q86XZ7	Missense_Mutation	SNP	ENST00000545588.1	37	c.130C>G	CCDS30978.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.292894	0.80914	.	.	ENSG00000058673	ENST00000432282;ENST00000453771;ENST00000367214;ENST00000367212;ENST00000332127;ENST00000545588;ENST00000367210	T;T;T;T;T	0.51071	0.72;0.72;0.72;0.72;0.72	5.42	5.42	0.78866	Zinc finger, CCCH-type (2);	0.000000	0.85682	D	0.000000	T	0.60689	0.2288	L	0.50333	1.59	0.54753	D	0.99998	D	0.65815	0.995	P	0.61328	0.887	T	0.60657	-0.7220	10	0.52906	T	0.07	-11.0171	16.133	0.81458	0.0:1.0:0.0:0.0	.	44	O75152	ZC11A_HUMAN	G	44	ENSP00000356183:R44G;ENSP00000356181:R44G;ENSP00000333253:R44G;ENSP00000438527:R44G;ENSP00000356179:R44G	ENSP00000333253:R44G	R	+	1	0	ZC3H11A	202054396	0.995000	0.38212	1.000000	0.80357	0.999000	0.98932	3.249000	0.51437	2.550000	0.86006	0.650000	0.86243	CGC		0.438	ZC3H11A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087471.3	NM_014827		17	62	0	0	0	1	0	17	62					G	203787773	C	G	203787773	3	3	291	1	0	0	0	0	1	0	0	0	17557	768	27	5	136	5	ZC3H11A	1	203787773	Missense_Mutation	SNP	C	TCGA-J9-A8CM-01A-11D-A34U-08	5076322	203787773	45462848	6	14011											
USH2A	7399	broad.mit.edu	37	chr1	216256915	216256915	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatgaaacatatatggatgAagttccaggaaccctttaaa	16	10	7	8	0	0	2	0	2	0	0	1	4	1	4	3	2	2	1	3	2	7	5			TCGA-J9-A8CM-01A-11D-A34U-08	TCGA-J9-A8CM-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a01318-edcd-41e8-8be5-95fbc01e1e7e	b7b750a0-fdaa-42a2-b583-989423ec1b45	g.chr1:216256915A>T	ENST00000307340.3	-	26	5567	c.5181T>A	c.(5179-5181)ctT>ctA	p.L1727L	RP11-22M7.2_ENST00000442606.1_RNA|RP11-22M7.2_ENST00000430890.1_RNA|USH2A_ENST00000366943.2_Silent_p.L1727L|RP11-22M7.2_ENST00000445619.1_RNA|RP11-22M7.2_ENST00000446411.1_RNA	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	1727	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TATATGGATGAAGTTCCAGGA	0.338										HNSCC(13;0.011)																												ENST00000366943.2																			0				NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527						c.(5179-5181)ctT>ctA		Usher syndrome 2A (autosomal recessive, mild)							90	92	91					1																	216256915		2203	4298	6501	SO:0001819	synonymous_variant	7399				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	g.chr1:216256915A>T	AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"Fibronectin type III domain containing"	12601	protein-coding gene	gene with protein product	"usherin"	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.5181T>A	1.37:g.216256915A>T		HNSCC(13;0.011)				RP11-22M7.2_ENST00000430890.1_RNA|USH2A_ENST00000307340.3_Silent_p.L1727L|RP11-22M7.2_ENST00000445619.1_RNA|RP11-22M7.2_ENST00000446411.1_RNA|RP11-22M7.2_ENST00000442606.1_RNA	p.L1727L			O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	26	5567	-			1727			Laminin G-like 2.		Q5VVM9|Q6S362|Q9NS27	Silent	SNP	ENST00000307340.3	37	c.5181T>A	CCDS31025.1																																																																																				0.338	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		22	113	0	0	0	1	0	22	113					T	216256915	A	T	216256915	2	4	291	1	0	0	0	0	0	0	0	1	17033	233	9	5		5	USH2A	1	216256915	Silent	SNP	A	TCGA-J9-A8CM-01A-11D-A34U-08	12469142	216256915	32993706	7	14012											
ACTA1	58	broad.mit.edu	37	chr1	229568583	229568583	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctctcttgctctgagcctcGtcgcccacgtaggaatcttt	5	13	8	15	3	3	1	0	1	3	0	6	2	3	2	3	1	2	2	3	1	2	3			TCGA-J9-A8CM-01A-11D-A34U-08	TCGA-J9-A8CM-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a01318-edcd-41e8-8be5-95fbc01e1e7e	b7b750a0-fdaa-42a2-b583-989423ec1b45	g.chr1:229568583G>A	ENST00000366684.3	-	3	276	c.174C>T	c.(172-174)gaC>gaT	p.D58D	ACTA1_ENST00000366683.2_Silent_p.D58D	NM_001100.3	NP_001091.1	P68133	ACTS_HUMAN	actin, alpha 1, skeletal muscle	58					cell growth (GO:0016049)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|response to extracellular stimulus (GO:0009991)|response to lithium ion (GO:0010226)|response to mechanical stimulus (GO:0009612)|response to steroid hormone (GO:0048545)|skeletal muscle fiber adaptation (GO:0043503)|skeletal muscle fiber development (GO:0048741)|skeletal muscle thin filament assembly (GO:0030240)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|blood microparticle (GO:0072562)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|striated muscle thin filament (GO:0005865)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|myosin binding (GO:0017022)|structural constituent of cytoskeleton (GO:0005200)			endometrium(4)|large_intestine(4)|lung(18)|prostate(1)|urinary_tract(1)	28	Breast(184;0.0858)|Ovarian(103;0.103)	Prostate(94;0.167)				TCTGAGCCTCGTCGCCCACGT	0.592																																						ENST00000366684.3																			0				endometrium(4)|large_intestine(4)|lung(18)|prostate(1)|urinary_tract(1)	28						c.(172-174)gaC>gaT		actin, alpha 1, skeletal muscle	Dornase Alfa(DB00003)						68	68	68					1																	229568583		2203	4300	6503	SO:0001819	synonymous_variant	58				muscle filament sliding|skeletal muscle fiber development|skeletal muscle thin filament assembly	actin filament|cytosol|stress fiber|striated muscle thin filament	ADP binding|ATP binding|myosin binding|structural constituent of cytoskeleton	g.chr1:229568583G>A	J00068	CCDS1578.1	1q42.13	2014-09-17			ENSG00000143632	ENSG00000143632			129	protein-coding gene	gene with protein product	"nemaline myopathy type 3"	102610		ACTA		10072583, 6865942	Standard	NM_001100		Approved	NEM3	uc001htm.3	P68133	OTTHUMG00000038006	ENST00000366684.3:c.174C>T	1.37:g.229568583G>A						ACTA1_ENST00000366683.2_Silent_p.D58D	p.D58D	NM_001100.3	NP_001091.1	P68133	ACTS_HUMAN			3	276	-	Breast(184;0.0858)|Ovarian(103;0.103)	Prostate(94;0.167)	58					P02568|P99020|Q5T8M9	Silent	SNP	ENST00000366684.3	37	c.174C>T	CCDS1578.1																																																																																				0.592	ACTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092781.1	NM_001100		11	65	0	0	0	1	0	11	65					A	229568583	G	A	229568583	2	1	291	1	0	0	0	0	0	0	0	1	191	1136	40	1		1	ACTA1	1	229568583	Silent	SNP	G	TCGA-J9-A8CM-01A-11D-A34U-08	13311668	229568583	19682038	8	14013											
MFSD2B	388931	broad.mit.edu	37	chr2	24239744	24239744	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcacccccttcatcgcccTggcctacttcttcctgtggt	3	13	7	18	1	2	0	1	0	1	0	4	0	3	0	5	2	2	1	5	2	1	4			TCGA-J9-A8CM-01A-11D-A34U-08	TCGA-J9-A8CM-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a01318-edcd-41e8-8be5-95fbc01e1e7e	b7b750a0-fdaa-42a2-b583-989423ec1b45	g.chr2:24239744T>C	ENST00000406420.3	+	4	393	c.377T>C	c.(376-378)cTg>cCg	p.L126P	MFSD2B_ENST00000338315.4_Missense_Mutation_p.L126P	NM_001080473.1	NP_001073942.1	A6NFX1	MFS2B_HUMAN	major facilitator superfamily domain containing 2B	126					transport (GO:0006810)	integral component of membrane (GO:0016021)				cervix(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	10						TTCATCGCCCTGGCCTACTTC	0.662																																						ENST00000338315.4																			0				cervix(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	10						c.(376-378)cTg>cCg		major facilitator superfamily domain containing 2B							59	65	63					2																	24239744		2066	4184	6250	SO:0001583	missense	388931				transport	integral to membrane		g.chr2:24239744T>C		CCDS46228.1	2p23.3	2010-05-11			ENSG00000205639	ENSG00000205639			37207	protein-coding gene	gene with protein product						18694395	Standard	NM_001080473		Approved		uc002reo.2	A6NFX1	OTTHUMG00000090819	ENST00000406420.3:c.377T>C	2.37:g.24239744T>C	ENSP00000385527:p.Leu126Pro					MFSD2B_ENST00000406420.3_Missense_Mutation_p.L126P	p.L126P			A6NFX1	MFS2B_HUMAN			4	377	+			126					B5MC32	Missense_Mutation	SNP	ENST00000406420.3	37	c.377T>C	CCDS46228.1	.	.	.	.	.	.	.	.	.	.	T	14.77	2.633344	0.47049	.	.	ENSG00000205639	ENST00000406420;ENST00000338315	D;D	0.84070	-1.8;-1.8	4.87	2.46	0.29980	Major facilitator superfamily domain, general substrate transporter (1);	0.471168	0.18967	U	0.126226	T	0.76126	0.3944	L	0.35854	1.095	0.53688	D	0.99997	B	0.29232	0.238	B	0.35353	0.201	T	0.70956	-0.4731	10	0.87932	D	0	-2.3929	8.5553	0.33478	0.0:0.1644:0.0:0.8356	.	126	A6NFX1	MFS2B_HUMAN	P	126	ENSP00000385527:L126P;ENSP00000342501:L126P	ENSP00000342501:L126P	L	+	2	0	MFSD2B	24093248	1.000000	0.71417	0.391000	0.26233	0.353000	0.29299	4.782000	0.62396	0.307000	0.22880	0.418000	0.28097	CTG		0.662	MFSD2B-001	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000324307.1	NM_001080473		11	27	0	0	0	1	0	11	27					C	24239744	T	C	24239744	3	2	291	1	0	0	0	0	1	0	0	0	9531	1580	55	4	391	4	MFSD2B	2	24239744	Missense_Mutation	SNP	T	TCGA-J9-A8CM-01A-11D-A34U-08		24239744	218959629	9	14014											
DPP10	57628	broad.mit.edu	37	chr2	116534830	116534830	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcatctgacatcaggaaactGggaagtgataaagatcttgg	14	9	12	6	0	3	3	1	2	2	1	3	5	3	5	0	3	1	1	0	3	4	2			TCGA-J9-A8CM-01A-11D-A34U-08	TCGA-J9-A8CM-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a01318-edcd-41e8-8be5-95fbc01e1e7e	b7b750a0-fdaa-42a2-b583-989423ec1b45	g.chr2:116534830G>T	ENST00000410059.1	+	14	1748	c.1268G>T	c.(1267-1269)tGg>tTg	p.W423L	DPP10_ENST00000393147.2_Missense_Mutation_p.W427L|DPP10_ENST00000310323.8_Missense_Mutation_p.W416L|DPP10_ENST00000409163.1_Missense_Mutation_p.W373L	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919	Q8N608	DPP10_HUMAN	dipeptidyl-peptidase 10 (non-functional)	423						integral component of membrane (GO:0016021)|membrane (GO:0016020)	serine-type peptidase activity (GO:0008236)			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						TCAGGAAACTGGGAAGTGATA	0.383																																						ENST00000410059.1																			0				breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						c.(1267-1269)tGg>tTg		dipeptidyl-peptidase 10 (non-functional)							119	114	115					2																	116534830		2203	4299	6502	SO:0001583	missense	57628				proteolysis	integral to membrane|membrane fraction	serine-type peptidase activity	g.chr2:116534830G>T	AY172661	CCDS33278.1, CCDS46400.1, CCDS54388.1, CCDS54389.1	2q14.1	2010-05-04	2010-05-04		ENSG00000175497	ENSG00000175497			20823	protein-coding gene	gene with protein product		608209	"dipeptidylpeptidase 10", "dipeptidyl-peptidase 10"			10819331, 12662155	Standard	NM_020868		Approved	DPRP3	uc002tle.3	Q8N608	OTTHUMG00000153294	ENST00000410059.1:c.1268G>T	2.37:g.116534830G>T	ENSP00000386565:p.Trp423Leu					DPP10_ENST00000409163.1_Missense_Mutation_p.W373L|DPP10_ENST00000310323.8_Missense_Mutation_p.W416L|DPP10_ENST00000393147.2_Missense_Mutation_p.W427L	p.W423L	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919.2	Q8N608	DPP10_HUMAN			14	1748	+			423					A8K1Q2|J3KPP2|J3KQ46|Q0GLB8|Q53QT3|Q53S86|Q53SL8|Q53SS4|Q6TTV4|Q86YR9|Q9P236	Missense_Mutation	SNP	ENST00000410059.1	37	c.1268G>T	CCDS46400.1	.	.	.	.	.	.	.	.	.	.	G	24.7	4.562535	0.86335	.	.	ENSG00000175497	ENST00000410059;ENST00000409163;ENST00000393147;ENST00000310323;ENST00000476155	T;T;T;T	0.42131	0.98;0.98;0.98;0.98	4.97	4.97	0.65823	Peptidase S9B, dipeptidylpeptidase IV N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.73976	0.3656	H	0.94183	3.505	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;0.999;0.999	D;D;D;D	0.97110	0.996;1.0;0.996;0.998	T	0.81618	-0.0851	10	0.87932	D	0	-26.5509	16.1089	0.81244	0.0:0.0:1.0:0.0	.	416;427;419;423	Q8N608-2;Q0GLB8;Q0GLB9;Q8N608	.;.;.;DPP10_HUMAN	L	423;373;427;416;373	ENSP00000386565:W423L;ENSP00000387038:W373L;ENSP00000376855:W427L;ENSP00000309066:W416L	ENSP00000309066:W416L	W	+	2	0	DPP10	116251300	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.007000	0.88571	2.731000	0.93534	0.655000	0.94253	TGG		0.383	DPP10-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000330580.4	NM_020868		4	24	1	0	0.150653	1	0.155084	4	24					T	116534830	G	T	116534830	3	4	291	1	0	0	0	0	1	0	0	0	4727	1357	47	5	1493	5	DPP10	2	116534830	Missense_Mutation	SNP	G	TCGA-J9-A8CM-01A-11D-A34U-08	92295086	116534830	126664543	10	14015											
EOMES	8320	broad.mit.edu	37	chr3	27760935	27760935	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtctcatccagtgggaaccAgtattaggagactctgggtg	9	11	13	8	0	2	1	1	0	2	1	4	3	3	2	2	3	1	1	2	3	3	2			TCGA-J9-A8CM-01A-11D-A34U-08	TCGA-J9-A8CM-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a01318-edcd-41e8-8be5-95fbc01e1e7e	b7b750a0-fdaa-42a2-b583-989423ec1b45	g.chr3:27760935A>T	ENST00000295743.4	-	3	1277	c.1074T>A	c.(1072-1074)acT>acA	p.T358T	EOMES_ENST00000537516.1_Silent_p.T63T|EOMES_ENST00000461503.1_5'UTR|EOMES_ENST00000449599.1_Silent_p.T358T			O95936	EOMES_HUMAN	eomesodermin	358					brain development (GO:0007420)|cardioblast differentiation (GO:0010002)|CD8-positive, alpha-beta T cell differentiation involved in immune response (GO:0002302)|cell differentiation involved in embryonic placenta development (GO:0060706)|cerebral cortex neuron differentiation (GO:0021895)|cerebral cortex regionalization (GO:0021796)|endoderm formation (GO:0001706)|endodermal cell fate specification (GO:0001714)|interferon-gamma production (GO:0032609)|mesoderm formation (GO:0001707)|mesodermal to mesenchymal transition involved in gastrulation (GO:0060809)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|olfactory bulb development (GO:0021772)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of neuron differentiation (GO:0045664)|skeletal muscle cell differentiation (GO:0035914)|stem cell maintenance (GO:0019827)|trophectodermal cell differentiation (GO:0001829)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(3)|prostate(1)	21						AGTGGGAACCAGTATTAGGAG	0.403																																						ENST00000295743.4																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(3)|prostate(1)	21						c.(1072-1074)acT>acA		eomesodermin							177	166	170					3																	27760935		2203	4300	6503	SO:0001819	synonymous_variant	8320				CD8-positive, alpha-beta T cell differentiation involved in immune response|cell differentiation involved in embryonic placenta development|endoderm formation|mesoderm formation|mesodermal to mesenchymal transition involved in gastrulation|positive regulation of transcription, DNA-dependent	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr3:27760935A>T	BC025363	CCDS2646.1, CCDS63585.1	3p24.1	2011-06-13	2010-06-24		ENSG00000163508	ENSG00000163508		"T-boxes"	3372	protein-coding gene	gene with protein product	"T-box brain2"	604615	"eomesodermin (Xenopus laevis) homolog"			9888994, 9434949	Standard	NM_005442		Approved	TBR2	uc003cdy.4	O95936	OTTHUMG00000130570	ENST00000295743.4:c.1074T>A	3.37:g.27760935A>T						EOMES_ENST00000537516.1_Silent_p.T63T|EOMES_ENST00000449599.1_Silent_p.T358T|EOMES_ENST00000461503.1_5'UTR	p.T358T			O95936	EOMES_HUMAN			3	1277	-			358					B7Z4I2|B7ZA51|G3XAI5|Q8TAZ2|Q9UPM7	Silent	SNP	ENST00000295743.4	37	c.1074T>A	CCDS2646.1																																																																																				0.403	EOMES-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252995.1	NM_005442		22	75	0	0	0	1	0	22	75					T	27760935	A	T	27760935	2	4	291	1	0	0	0	0	0	0	0	1	5147	175	7	5		5	EOMES	3	27760935	Silent	SNP	A	TCGA-J9-A8CM-01A-11D-A34U-08		27760935	170261495	11	14016											
TRANK1	9881	broad.mit.edu	37	chr3	36872850	36872850	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgacacgctccatctgggTgcccactcttctcctccaac	6	10	6	19	1	3	1	0	1	3	0	6	1	5	1	5	1	2	1	5	1	1	1			TCGA-J9-A8CM-01A-11D-A34U-08	TCGA-J9-A8CM-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a01318-edcd-41e8-8be5-95fbc01e1e7e	b7b750a0-fdaa-42a2-b583-989423ec1b45	g.chr3:36872850T>A	ENST00000429976.2	-	21	8339	c.8092A>T	c.(8092-8094)Acc>Tcc	p.T2698S	TRANK1_ENST00000428977.2_Missense_Mutation_p.T2148S|TRANK1_ENST00000301807.6_Missense_Mutation_p.T2148S	NM_014831.2	NP_055646.2	O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	2698							ATP binding (GO:0005524)|hydrolase activity (GO:0016787)			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						TCCATCTGGGTGCCCACTCTT	0.572																																						ENST00000429976.2																			0				NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						c.(8092-8094)Acc>Tcc		tetratricopeptide repeat and ankyrin repeat containing 1							49	50	50					3																	36872850		2071	4208	6279	SO:0001583	missense	9881				DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding	g.chr3:36872850T>A	AK096678	CCDS46789.1, CCDS46789.2	3p22.2	2013-01-11			ENSG00000168016	ENSG00000168016		"Ankyrin repeat domain containing", "Tetratricopeptide (TTC) repeat domain containing"	29011	protein-coding gene	gene with protein product	"lupus brain antigen 1", "KIAA0342"					9205841	Standard	NM_014831		Approved	LBA1, KIAA0342	uc003cgj.3	O15050	OTTHUMG00000155848	ENST00000429976.2:c.8092A>T	3.37:g.36872850T>A	ENSP00000416168:p.Thr2698Ser					TRANK1_ENST00000428977.2_Missense_Mutation_p.T2148S|TRANK1_ENST00000301807.6_Missense_Mutation_p.T2148S	p.T2698S			O15050	TRNK1_HUMAN			21	8339	-			2698					Q8N8K0	Missense_Mutation	SNP	ENST00000429976.2	37	c.8092A>T	CCDS46789.2	.	.	.	.	.	.	.	.	.	.	T	6.078	0.382730	0.11524	.	.	ENSG00000168016	ENST00000428977;ENST00000429976;ENST00000301807	T;T;T	0.29917	1.55;1.95;1.55	4.48	-0.197	0.13228	.	1.111240	0.06932	N	0.811275	T	0.11110	0.0271	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.28839	-1.0031	10	0.07482	T	0.82	.	0.5005	0.00579	0.175:0.3001:0.2209:0.304	.	2698	O15050	TRNK1_HUMAN	S	2148;2698;2148	ENSP00000416826:T2148S;ENSP00000416168:T2698S;ENSP00000301807:T2148S	ENSP00000301807:T2148S	T	-	1	0	TRANK1	36847854	0.000000	0.05858	0.063000	0.19743	0.790000	0.44656	0.143000	0.16115	0.033000	0.15463	0.459000	0.35465	ACC		0.572	TRANK1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_014831		5	18	0	0	0	1	0	5	18					A	36872850	T	A	36872850	3	1	291	1	0	0	0	0	1	0	0	0	16451	1696	59	5	697	5	TRANK1	3	36872850	Missense_Mutation	SNP	T	TCGA-J9-A8CM-01A-11D-A34U-08	9111915	36872850	161149580	12	14017											
FYCO1	79443	broad.mit.edu	37	chr3	45996750	45996750	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cctctactcactgttcagccGcatttgggtcgagagaatca	9	11	9	12	2	4	1	3	0	1	1	5	3	4	1	2	1	2	2	2	1	2	3	rs140583635		TCGA-J9-A8CM-01A-11D-A34U-08	TCGA-J9-A8CM-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a01318-edcd-41e8-8be5-95fbc01e1e7e	b7b750a0-fdaa-42a2-b583-989423ec1b45	g.chr3:45996750G>A	ENST00000296137.2	-	14	4140	c.3935C>T	c.(3934-3936)gCg>gTg	p.A1312V	FYCO1_ENST00000535325.1_Missense_Mutation_p.A1312V|FYCO1_ENST00000438446.1_5'UTR	NM_024513.3	NP_078789.2	Q9BQS8	FYCO1_HUMAN	FYVE and coiled-coil domain containing 1	1312					plus-end-directed vesicle transport along microtubule (GO:0072383)	autophagic vacuole (GO:0005776)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)	metal ion binding (GO:0046872)			NS(4)|breast(3)|central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(17)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	54				BRCA - Breast invasive adenocarcinoma(193;0.00147)|KIRC - Kidney renal clear cell carcinoma(197;0.0272)|Kidney(197;0.0323)		CTGTTCAGCCGCATTTGGGTC	0.498																																						ENST00000296137.2																			0				NS(4)|breast(3)|central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(17)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	54						c.(3934-3936)gCg>gTg		FYVE and coiled-coil domain containing 1		G	VAL/ALA	0,4406		0,0,2203	176	181	179		3935	3.4	0.2	3	dbSNP_134	179	1,8599	1.2+/-3.3	0,1,4299	no	missense	FYCO1	NM_024513.2	64	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	1312/1479	45996750	1,13005	2203	4300	6503	SO:0001583	missense	79443				transport	integral to membrane	metal ion binding|protein binding	g.chr3:45996750G>A	AJ292348	CCDS2734.1	3p21.3	2008-02-05			ENSG00000163820	ENSG00000163820		"Zinc fingers, FYVE domain containing"	14673	protein-coding gene	gene with protein product		607182				11896456	Standard	NM_024513		Approved	FLJ13335, ZFYVE7	uc003cpb.5	Q9BQS8	OTTHUMG00000133447	ENST00000296137.2:c.3935C>T	3.37:g.45996750G>A	ENSP00000296137:p.Ala1312Val					FYCO1_ENST00000535325.1_Missense_Mutation_p.A1312V|FYCO1_ENST00000438446.1_5'UTR	p.A1312V	NM_024513.3	NP_078789.2	Q9BQS8	FYCO1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00147)|KIRC - Kidney renal clear cell carcinoma(197;0.0272)|Kidney(197;0.0323)	14	4140	-			1312					B7ZKT7|Q3MJE6|Q86T41|Q86TB1|Q8TEF9|Q96IV5|Q9H8P9	Missense_Mutation	SNP	ENST00000296137.2	37	c.3935C>T	CCDS2734.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	0.144|0.144	-1.099395|-1.099395	0.01843|0.01843	0.0|0.0	1.16E-4|1.16E-4	ENSG00000163820|ENSG00000163820	ENST00000296137;ENST00000535325|ENST00000433878	T;T|.	0.20598|.	2.06;2.13|.	5.82|5.82	3.37|3.37	0.38596|0.38596	.|.	1.153750|.	0.06193|.	N|.	0.681750|.	T|T	0.08088|0.08088	0.0202|0.0202	N|N	0.00436|0.00436	-1.5|-1.5	0.09310|0.09310	N|N	1|1	B;B|.	0.02656|.	0.0;0.0|.	B;B|.	0.01281|.	0.0;0.0|.	T|T	0.32955|0.32955	-0.9887|-0.9887	10|5	0.02654|.	T|.	1|.	-2.141|-2.141	9.5319|9.5319	0.39198|0.39198	0.8598:0.0:0.1402:0.0|0.8598:0.0:0.1402:0.0	.|.	1312;1312|.	B7ZKT7;Q9BQS8|.	.;FYCO1_HUMAN|.	V|W	1312|101	ENSP00000296137:A1312V;ENSP00000441178:A1312V|.	ENSP00000296137:A1312V|.	A|R	-|-	2|1	0|2	FYCO1|FYCO1	45971754|45971754	0.324000|0.324000	0.24652|0.24652	0.162000|0.162000	0.22713|0.22713	0.435000|0.435000	0.31806|0.31806	1.668000|1.668000	0.37481|0.37481	0.435000|0.435000	0.26365|0.26365	-0.285000|-0.285000	0.09966|0.09966	GCG|CGG		0.498	FYCO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257320.2	NM_024513		4	103	0	0	0	1	0	4	103					A	45996750	G	A	45996750	3	1	291	1	0	0	0	0	1	0	0	0	6125	1087	38	1	521	1	FYCO1	3	45996750	Missense_Mutation	SNP	G	TCGA-J9-A8CM-01A-11D-A34U-08	9123900	45996750	152025680	13	14018											
ITIH4	3700	broad.mit.edu	37	chr3	52858573	52858573	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tccaggatcttgattagggcTtcccgggtctggtcagggag	6	11	15	9	1	3	1	1	1	2	0	5	3	5	3	2	5	0	1	2	5	1	3	rs373129789		TCGA-J9-A8CM-01A-11D-A34U-08	TCGA-J9-A8CM-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a01318-edcd-41e8-8be5-95fbc01e1e7e	b7b750a0-fdaa-42a2-b583-989423ec1b45	g.chr3:52858573T>G	ENST00000266041.4	-	8	981	c.885A>C	c.(883-885)gaA>gaC	p.E295D	ITIH4_ENST00000406595.1_Missense_Mutation_p.E295D|ITIH4_ENST00000467462.1_5'Flank|ITIH4_ENST00000346281.5_Missense_Mutation_p.E295D|ITIH4_ENST00000485816.1_Missense_Mutation_p.E295D|RP5-966M1.6_ENST00000468472.1_3'UTR|ITIH4_ENST00000434759.3_Missense_Mutation_p.E207D|ITIH4-AS1_ENST00000478366.1_RNA	NM_002218.4	NP_002209.2	Q14624	ITIH4_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 4	295	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				acute-phase response (GO:0006953)|hyaluronan metabolic process (GO:0030212)|negative regulation of endopeptidase activity (GO:0010951)|response to cytokine (GO:0034097)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496)		TGATTAGGGCTTCCCGGGTCT	0.577																																						ENST00000266041.4																			0				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	30						c.(883-885)gaA>gaC		inter-alpha-trypsin inhibitor heavy chain family, member 4							88	87	87					3																	52858573		2203	4300	6503	SO:0001583	missense	3700				acute-phase response|hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	g.chr3:52858573T>G	D38535	CCDS2865.1, CCDS54596.1	3p21.1	2011-10-26	2011-10-26		ENSG00000055955	ENSG00000055955			6169	protein-coding gene	gene with protein product	"plasma Kallikrein-sensitive glycoprotein"	600564	"inter-alpha (globulin) inhibitor H4 (plasma Kallikrein-sensitive glycoprotein)"	ITIHL1		9480842, 7805892	Standard	NM_002218		Approved	IHRP, H4P	uc003dfz.3	Q14624	OTTHUMG00000159023	ENST00000266041.4:c.885A>C	3.37:g.52858573T>G	ENSP00000266041:p.Glu295Asp					ITIH4_ENST00000485816.1_Missense_Mutation_p.E295D|ITIH4_ENST00000346281.5_Missense_Mutation_p.E295D|ITIH4_ENST00000434759.3_Missense_Mutation_p.E207D|ITIH4-AS1_ENST00000478366.1_RNA|ITIH4_ENST00000406595.1_Missense_Mutation_p.E295D	p.E295D	NM_002218.4	NP_002209.2	Q14624	ITIH4_HUMAN		BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496)	8	981	-			295			VWFA.		B7Z545|E9PGN5|Q15135|Q9P190|Q9UQ54	Missense_Mutation	SNP	ENST00000266041.4	37	c.885A>C	CCDS2865.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	16.01|16.01	2.999938|2.999938	0.54147|0.54147	.|.	.|.	ENSG00000055955|ENSG00000055955	ENST00000266041;ENST00000346281;ENST00000485816;ENST00000406595;ENST00000538421;ENST00000434759|ENST00000441637	D;D;D;D;D|.	0.83335|.	-1.71;-1.71;-1.71;-1.71;-1.71|.	5.35|5.35	1.43|1.43	0.22495|0.22495	von Willebrand factor, type A (3);|.	0.164522|.	0.40908|.	D|.	0.000991|.	T|T	0.54271|0.54271	0.1848|0.1848	L|L	0.52823|0.52823	1.66|1.66	0.80722|0.80722	D|D	1|1	B;P;P;P|.	0.40032|.	0.426;0.673;0.673;0.699|.	B;B;B;P|.	0.50896|.	0.284;0.284;0.284;0.653|.	T|T	0.45131|0.45131	-0.9282|-0.9282	10|5	0.45353|.	T|.	0.12|.	-9.1338|-9.1338	5.3587|5.3587	0.16075|0.16075	0.1219:0.2541:0.0:0.6241|0.1219:0.2541:0.0:0.6241	.|.	295;295;295;295|.	E9PGN5;B7ZKJ8;Q14624;Q14624-2|.	.;.;ITIH4_HUMAN;.|.	D|R	295;295;295;295;283;207|153	ENSP00000266041:E295D;ENSP00000340520:E295D;ENSP00000417824:E295D;ENSP00000384425:E295D;ENSP00000440036:E207D|.	ENSP00000266041:E295D|.	E|S	-|-	3|1	2|0	ITIH4|ITIH4	52833613|52833613	0.985000|0.985000	0.35326|0.35326	1.000000|1.000000	0.80357|0.80357	0.987000|0.987000	0.75469|0.75469	0.103000|0.103000	0.15292|0.15292	0.348000|0.348000	0.23949|0.23949	0.459000|0.459000	0.35465|0.35465	GAA|AGC		0.577	ITIH4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317715.1	NM_002218		8	27	0	0	0	1	0	8	27					G	52858573	T	G	52858573	3	3	291	1	0	0	0	0	1	0	0	0	7906	1606	56	5	1975	5	ITIH4	3	52858573	Missense_Mutation	SNP	T	TCGA-J9-A8CM-01A-11D-A34U-08	6861823	52858573	145163857	14	14019											
EPHB1	2047	broad.mit.edu	37	chr3	134920475	134920475	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgtgcaaggtgtccgactttGgcctctcccgctacctccag	5	11	10	15	2	1	0	0	0	1	0	4	1	3	0	5	2	2	2	5	2	2	2			TCGA-J9-A8CM-01A-11D-A34U-08	TCGA-J9-A8CM-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a01318-edcd-41e8-8be5-95fbc01e1e7e	b7b750a0-fdaa-42a2-b583-989423ec1b45	g.chr3:134920475G>T	ENST00000398015.3	+	12	2660	c.2290G>T	c.(2290-2292)Ggc>Tgc	p.G764C	EPHB1_ENST00000493838.1_Missense_Mutation_p.G325C	NM_004441.4	NP_004432.1	P54762	EPHB1_HUMAN	EPH receptor B1	764	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|camera-type eye morphogenesis (GO:0048593)|cell chemotaxis (GO:0060326)|cell-substrate adhesion (GO:0031589)|central nervous system projection neuron axonogenesis (GO:0021952)|dendritic spine development (GO:0060996)|dendritic spine morphogenesis (GO:0060997)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|ephrin receptor signaling pathway (GO:0048013)|establishment of cell polarity (GO:0030010)|neural precursor cell proliferation (GO:0061351)|neurogenesis (GO:0022008)|optic nerve morphogenesis (GO:0021631)|positive regulation of synapse assembly (GO:0051965)|protein autophosphorylation (GO:0046777)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of JNK cascade (GO:0046328)|retinal ganglion cell axon guidance (GO:0031290)	axon (GO:0030424)|early endosome membrane (GO:0031901)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|transmembrane-ephrin receptor activity (GO:0005005)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						GTCCGACTTTGGCCTCTCCCG	0.522																																						ENST00000398015.3																			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						c.(2290-2292)Ggc>Tgc		EPH receptor B1							128	130	130					3																	134920475		2198	4298	6496	SO:0001583	missense	2047					integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding	g.chr3:134920475G>T	L40636	CCDS46921.1	3q21-q23	2013-02-11	2004-10-28			ENSG00000154928		"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3392	protein-coding gene	gene with protein product		600600	"EphB1"	EPHT2		8666391	Standard	NM_004441		Approved	Hek6	uc003eqt.3	P54762		ENST00000398015.3:c.2290G>T	3.37:g.134920475G>T	ENSP00000381097:p.Gly764Cys					EPHB1_ENST00000493838.1_Missense_Mutation_p.G325C	p.G764C	NM_004441.4	NP_004432.1	P54762	EPHB1_HUMAN			12	2660	+			764			Protein kinase.		A8K593|B3KTB2|B5A969|O43569|O95142|O95143|Q0VG87	Missense_Mutation	SNP	ENST00000398015.3	37	c.2290G>T	CCDS46921.1	.	.	.	.	.	.	.	.	.	.	G	28.3	4.907344	0.92107	.	.	ENSG00000154928	ENST00000398015;ENST00000493838	D;D	0.92858	-3.12;-3.12	5.44	5.44	0.79542	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.98121	0.9380	H	0.99299	4.505	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99368	1.0919	10	0.87932	D	0	.	19.6207	0.95654	0.0:0.0:1.0:0.0	.	764	P54762	EPHB1_HUMAN	C	764;325	ENSP00000381097:G764C;ENSP00000419574:G325C	ENSP00000381097:G764C	G	+	1	0	EPHB1	136403165	1.000000	0.71417	0.999000	0.59377	0.978000	0.69477	9.813000	0.99286	2.707000	0.92482	0.563000	0.77884	GGC		0.522	EPHB1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357671.1	NM_004441		15	45	1	0	1.05317e-09	1	1.27107e-09	15	45					T	134920475	G	T	134920475	3	4	291	1	0	0	0	0	1	0	0	0	5174	1348	47	5	2336	5	EPHB1	3	134920475	Missense_Mutation	SNP	G	TCGA-J9-A8CM-01A-11D-A34U-08	82061902	134920475	63101955	15	14020											
ATP13A5	344905	broad.mit.edu	37	chr3	193082032	193082032	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cggatgcgacaaggcagaagGctttccgtacattgtggtcc	9	9	13	10	3	0	1	0	0	0	1	2	3	2	2	2	4	2	3	2	4	3	3			TCGA-J9-A8CM-01A-11D-A34U-08	TCGA-J9-A8CM-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a01318-edcd-41e8-8be5-95fbc01e1e7e	b7b750a0-fdaa-42a2-b583-989423ec1b45	g.chr3:193082032G>A	ENST00000342358.4	-	2	218	c.101C>T	c.(100-102)gCc>gTc	p.A34V		NM_198505.2	NP_940907.2	Q4VNC0	AT135_HUMAN	ATPase type 13A5	34						integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)			NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76	all_cancers(143;1.08e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000307)		AAGGCAGAAGGCTTTCCGTAC	0.483																																						ENST00000342358.4																			0				NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76						c.(100-102)gCc>gTc		ATPase type 13A5							161	164	163					3																	193082032		2203	4300	6503	SO:0001583	missense	344905				ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding	g.chr3:193082032G>A	AK122613	CCDS33914.1	3q29	2010-04-20			ENSG00000187527	ENSG00000187527		"ATPases / P-type"	31789	protein-coding gene	gene with protein product							Standard	NM_198505		Approved	FLJ16025	uc011bsq.2	Q4VNC0	OTTHUMG00000156101	ENST00000342358.4:c.101C>T	3.37:g.193082032G>A	ENSP00000341942:p.Ala34Val						p.A34V	NM_198505.2	NP_940907.2	Q4VNC0	AT135_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000307)	2	218	-	all_cancers(143;1.08e-08)|Ovarian(172;0.0386)		34					Q6UWS4|Q6ZWL0	Missense_Mutation	SNP	ENST00000342358.4	37	c.101C>T	CCDS33914.1	.	.	.	.	.	.	.	.	.	.	G	7.895	0.733250	0.15574	.	.	ENSG00000187527	ENST00000342358;ENST00000446087	T;T	0.21031	2.03;2.03	5.5	0.605	0.17553	.	0.202289	0.34750	N	0.003708	T	0.13927	0.0337	L	0.37630	1.12	0.09310	N	1	B	0.12013	0.005	B	0.23574	0.047	T	0.36237	-0.9756	10	0.11485	T	0.65	-0.89	9.8585	0.41101	0.3824:0.0:0.6176:0.0	.	34	Q4VNC0	AT135_HUMAN	V	34;56	ENSP00000341942:A34V;ENSP00000389416:A56V	ENSP00000341942:A34V	A	-	2	0	ATP13A5	194564726	0.001000	0.12720	0.007000	0.13788	0.010000	0.07245	0.298000	0.19120	0.115000	0.18071	-0.142000	0.14014	GCC		0.483	ATP13A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343012.1	NM_198505		35	61	0	0	0	1	0	35	61					A	193082032	G	A	193082032	3	1	291	1	0	0	0	0	1	0	0	0	1127	1203	42	3	3669	3	ATP13A5	3	193082032	Missense_Mutation	SNP	G	TCGA-J9-A8CM-01A-11D-A34U-08	58161557	193082032	4940398	16	14021											
ATP10D	57205	broad.mit.edu	37	chr4	47538814	47538814	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaaaatggattctattgttCagtgccgagccctgaacatc	13	11	8	9	1	2	1	1	1	1	0	3	3	2	2	2	1	3	1	2	1	5	4			TCGA-J9-A8CM-01A-11D-A34U-08	TCGA-J9-A8CM-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a01318-edcd-41e8-8be5-95fbc01e1e7e	b7b750a0-fdaa-42a2-b583-989423ec1b45	g.chr4:47538814C>A	ENST00000273859.3	+	9	1524	c.1255C>A	c.(1255-1257)Cag>Aag	p.Q419K	ATP10D_ENST00000504445.1_Missense_Mutation_p.Q404K	NM_020453.3	NP_065186.3	Q9P241	AT10D_HUMAN	ATPase, class V, type 10D	419					cation transport (GO:0006812)|ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	66						TTCTATTGTTCAGTGCCGAGC	0.393																																						ENST00000273859.3																			0				NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	66						c.(1255-1257)Cag>Aag		ATPase, class V, type 10D							57	56	56					4																	47538814		2203	4299	6502	SO:0001583	missense	57205				ATP biosynthetic process|cation transport	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr4:47538814C>A	AB040920	CCDS3476.1	4p12	2010-04-20	2007-09-19		ENSG00000145246	ENSG00000145246		"ATPases / P-type"	13549	protein-coding gene	gene with protein product			"ATPase, Class V, type 10D"			12532265	Standard	NM_020453		Approved	ATPVD, KIAA1487	uc003gxk.1	Q9P241	OTTHUMG00000160784	ENST00000273859.3:c.1255C>A	4.37:g.47538814C>A	ENSP00000273859:p.Gln419Lys					ATP10D_ENST00000504445.1_Missense_Mutation_p.Q404K	p.Q419K	NM_020453.3	NP_065186.3	Q9P241	AT10D_HUMAN			9	1524	+			419					A2RRC8|D6REN2|Q8NC70|Q96SR3	Missense_Mutation	SNP	ENST00000273859.3	37	c.1255C>A	CCDS3476.1	.	.	.	.	.	.	.	.	.	.	C	16.21	3.059093	0.55325	.	.	ENSG00000145246	ENST00000273859;ENST00000504445	D;T	0.88509	-2.39;-0.11	5.38	5.38	0.77491	.	0.067986	0.64402	D	0.000010	D	0.89382	0.6699	L	0.51914	1.62	0.41360	D	0.987427	D;P	0.54207	0.965;0.604	P;B	0.52598	0.703;0.434	D	0.87909	0.2696	10	0.32370	T	0.25	-15.4753	13.8154	0.63287	0.0:0.8469:0.1531:0.0	.	419;404	Q9P241;Q6PEW3	AT10D_HUMAN;.	K	419;404	ENSP00000273859:Q419K;ENSP00000420909:Q404K	ENSP00000273859:Q419K	Q	+	1	0	ATP10D	47233571	1.000000	0.71417	0.885000	0.34714	0.027000	0.11550	4.882000	0.63121	2.535000	0.85469	0.650000	0.86243	CAG		0.393	ATP10D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216900.1	NM_020453		8	33	1	0	5.68852e-11	1	7.027e-11	8	33					A	47538814	C	A	47538814	3	1	291	1	0	0	0	0	1	0	0	0	1118	827	29	5	1285	5	ATP10D	4	47538814	Missense_Mutation	SNP	C	TCGA-J9-A8CM-01A-11D-A34U-08		47538814	143615462	17	14022											
USP53	54532	broad.mit.edu	37	chr4	120214179	120214179	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cgattttcaggcaaactcagGtgccattgatgcattttgcc	9	13	9	10	1	2	1	2	1	0	0	2	2	2	1	2	2	4	2	2	2	1	5	rs551730276		TCGA-J9-A8CM-01A-11D-A34U-08	TCGA-J9-A8CM-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a01318-edcd-41e8-8be5-95fbc01e1e7e	b7b750a0-fdaa-42a2-b583-989423ec1b45	g.chr4:120214179G>T	ENST00000274030.6	+	19	4214	c.3035G>T	c.(3034-3036)gGt>gTt	p.G1012V	USP53_ENST00000450251.1_Missense_Mutation_p.G1012V	NM_019050.2	NP_061923.2			ubiquitin specific peptidase 53											breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(5)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	27						GCAAACTCAGGTGCCATTGAT	0.393																																						ENST00000450251.1																			0				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(5)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	27						c.(3034-3036)gGt>gTt		ubiquitin specific peptidase 53							111	110	110					4																	120214179		1965	4143	6108	SO:0001583	missense	54532				ubiquitin-dependent protein catabolic process		ubiquitin thiolesterase activity	g.chr4:120214179G>T	BC017382	CCDS43265.1	4q26	2010-05-12	2005-08-08		ENSG00000145390	ENSG00000145390		"Ubiquitin-specific peptidases"	29255	protein-coding gene	gene with protein product			"ubiquitin specific protease 53"			10718198, 14715245	Standard	NM_019050		Approved	KIAA1350	uc003ics.4	Q70EK8	OTTHUMG00000161331	ENST00000274030.6:c.3035G>T	4.37:g.120214179G>T	ENSP00000274030:p.Gly1012Val					USP53_ENST00000274030.6_Missense_Mutation_p.G1012V	p.G1012V			Q70EK8	UBP53_HUMAN			15	3579	+			1012						Missense_Mutation	SNP	ENST00000274030.6	37	c.3035G>T	CCDS43265.1	.	.	.	.	.	.	.	.	.	.	G	10.95	1.496492	0.26861	.	.	ENSG00000145390	ENST00000274030;ENST00000450251	T;T	0.47869	0.83;0.83	5.73	-0.0813	0.13703	.	2.150990	0.01898	N	0.038980	T	0.41236	0.1150	L	0.44542	1.39	0.09310	N	1	B	0.20671	0.047	B	0.19946	0.027	T	0.23904	-1.0175	10	0.42905	T	0.14	-5.1327	6.3438	0.21337	0.412:0.1271:0.4609:0.0	.	1012	Q70EK8	UBP53_HUMAN	V	1012	ENSP00000274030:G1012V;ENSP00000409906:G1012V	ENSP00000274030:G1012V	G	+	2	0	USP53	120433627	0.000000	0.05858	0.001000	0.08648	0.760000	0.43138	-0.294000	0.08309	0.081000	0.16988	0.585000	0.79938	GGT		0.393	USP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364564.2	XM_052597		33	74	1	0	9.45814e-24	1	1.19651e-23	33	74					T	120214179	G	T	120214179	3	4	291	1	0	0	0	0	1	0	0	0	17081	1261	44	5	3093	5	USP53	4	120214179	Missense_Mutation	SNP	G	TCGA-J9-A8CM-01A-11D-A34U-08	72675365	120214179	70940097	18	14023											
MGC42105	167359	broad.mit.edu	37	chr5	43280301	43280301	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tctgggccttgggggtgcttTtgtacttcatggtgactggc	3	15	15	8	0	2	1	1	1	1	0	2	1	2	1	1	5	2	2	1	5	1	5			TCGA-J9-A8CM-01A-11D-A34U-08	TCGA-J9-A8CM-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a01318-edcd-41e8-8be5-95fbc01e1e7e	b7b750a0-fdaa-42a2-b583-989423ec1b45	g.chr5:43280301T>C	ENST00000512796.1	+	4	2280	c.781T>C	c.(781-783)Ttg>Ctg	p.L261L	NIM1_ENST00000326035.2_Silent_p.L261L			Q8IY84	NIM1_HUMAN		261	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				protein phosphorylation (GO:0006468)		ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)										GGGGGTGCTTTTGTACTTCAT	0.547																																						ENST00000512796.1																			0											c.(781-783)Ttg>Ctg									90	80	83					5																	43280301		2203	4300	6503	SO:0001819	synonymous_variant	0						ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr5:43280301T>C																												ENST00000512796.1:c.781T>C	5.37:g.43280301T>C						NIM1_ENST00000326035.2_Silent_p.L261L	p.L261L			Q8IY84	NIM1_HUMAN			4	2280	+			261			Protein kinase.		B3KVM1	Silent	SNP	ENST00000512796.1	37	c.781T>C	CCDS3943.1																																																																																				0.547	NIM1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368017.1			3	49	0	0	0	1	0	3	49					C	43280301	T	C	43280301	2	2	291	1	0	0	0	0	0	0	0	1	9552	1838	64	4		4	MGC42105	5	43280301	Silent	SNP	T	TCGA-J9-A8CM-01A-11D-A34U-08		43280301	137634959	19	14024											
MSH3	4437	broad.mit.edu	37	chr5	79965959	79965959	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcagtttggatcatcaaataCaagtcatgaaaatttacaga	17	12	6	6	0	4	2	4	1	0	1	4	3	4	3	0	1	2	1	0	1	6	4			TCGA-J9-A8CM-01A-11D-A34U-08	TCGA-J9-A8CM-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a01318-edcd-41e8-8be5-95fbc01e1e7e	b7b750a0-fdaa-42a2-b583-989423ec1b45	g.chr5:79965959C>T	ENST00000265081.6	+	4	703	c.623C>T	c.(622-624)aCa>aTa	p.T208I		NM_002439.4	NP_002430.3	P20585	MSH3_HUMAN	mutS homolog 3	208	Interaction with EXO1.				ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)|maintenance of DNA repeat elements (GO:0043570)|meiotic mismatch repair (GO:0000710)|mismatch repair (GO:0006298)|negative regulation of DNA recombination (GO:0045910)|positive regulation of helicase activity (GO:0051096)|reciprocal meiotic recombination (GO:0007131)|somatic recombination of immunoglobulin gene segments (GO:0016447)	membrane (GO:0016020)|MutSbeta complex (GO:0032302)|nuclear chromosome (GO:0000228)|nucleus (GO:0005634)	ATP binding (GO:0005524)|centromeric DNA binding (GO:0019237)|damaged DNA binding (GO:0003684)|DNA-dependent ATPase activity (GO:0008094)|double-strand/single-strand DNA junction binding (GO:0000406)|enzyme binding (GO:0019899)|heteroduplex DNA loop binding (GO:0000404)|Y-form DNA binding (GO:0000403)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	29		Lung NSC(167;0.00479)|all_lung(232;0.00507)|Ovarian(174;0.0261)|Breast(144;0.244)		OV - Ovarian serous cystadenocarcinoma(54;2.38e-45)|Epithelial(54;1.58e-38)|all cancers(79;4.93e-33)		TCATCAAATACAAGTCATGAA	0.338								Mismatch excision repair (MMR)																													Melanoma(88;1010 1399 13793 26548 36275)	ENST00000265081.6																			0				NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	29						c.(622-624)aCa>aTa	Mismatch excision repair (MMR)	mutS homolog 3							73	73	73					5																	79965959		2203	4300	6503	SO:0001583	missense	4437				maintenance of DNA repeat elements|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|somatic recombination of immunoglobulin gene segments	MutSbeta complex|nuclear chromosome	ATP binding|DNA-dependent ATPase activity|double-strand/single-strand DNA junction binding|enzyme binding|loop DNA binding|Y-form DNA binding	g.chr5:79965959C>T	U61981	CCDS34195.1	5q11-q12	2013-09-12	2013-09-12		ENSG00000113318	ENSG00000113318			7326	protein-coding gene	gene with protein product	"Divergent upstream protein", "Mismatch repair protein 1"	600887	"mutS (E. coli) homolog 3", "mutS homolog 3 (E. coli)"				Standard	NM_002439		Approved	DUP, MRP1	uc003kgz.4	P20585	OTTHUMG00000162540	ENST00000265081.6:c.623C>T	5.37:g.79965959C>T	ENSP00000265081:p.Thr208Ile						p.T208I	NM_002439.4	NP_002430.3	P20585	MSH3_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;2.38e-45)|Epithelial(54;1.58e-38)|all cancers(79;4.93e-33)	4	703	+		Lung NSC(167;0.00479)|all_lung(232;0.00507)|Ovarian(174;0.0261)|Breast(144;0.244)	208			Interaction with EXO1.		A1L480|A1L482|A6NMM6|Q6PJT5|Q86UQ6|Q92867	Missense_Mutation	SNP	ENST00000265081.6	37	c.623C>T	CCDS34195.1	.	.	.	.	.	.	.	.	.	.	C	8.810	0.935083	0.18206	.	.	ENSG00000113318	ENST00000265081;ENST00000535995	D	0.86497	-2.13	4.35	-0.644	0.11479	.	1.722360	0.02625	N	0.103715	T	0.72835	0.3510	N	0.08118	0	0.09310	N	1	B	0.18461	0.028	B	0.13407	0.009	T	0.60880	-0.7175	9	.	.	.	10.2607	5.4779	0.16706	0.2771:0.5173:0.2055:0.0	.	208	P20585	MSH3_HUMAN	I	208;199	ENSP00000265081:T208I	.	T	+	2	0	MSH3	80001715	0.000000	0.05858	0.000000	0.03702	0.197000	0.23852	-0.315000	0.08081	-0.009000	0.14296	-0.270000	0.10280	ACA		0.338	MSH3-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369471.1	NM_002439		3	38	0	0	0	1	0	3	38					T	79965959	C	T	79965959	3	4	291	1	0	0	0	0	1	0	0	0	9871	478	17	3	637	3	MSH3	5	79965959	Missense_Mutation	SNP	C	TCGA-J9-A8CM-01A-11D-A34U-08	36685658	79965959	100949301	20	14025											
SNCAIP	9627	broad.mit.edu	37	chr5	121786541	121786541	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggaactgaagttagccaggCtgagacagctgatgcagagg	12	6	16	7	0	0	4	0	3	0	2	0	6	0	5	1	3	4	4	1	3	3	1			TCGA-J9-A8CM-01A-11D-A34U-08	TCGA-J9-A8CM-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a01318-edcd-41e8-8be5-95fbc01e1e7e	b7b750a0-fdaa-42a2-b583-989423ec1b45	g.chr5:121786541C>A	ENST00000261368.8	+	10	2261	c.1999C>A	c.(1999-2001)Ctg>Atg	p.L667M	SNCAIP_ENST00000261367.7_Missense_Mutation_p.L714M|SNCAIP_ENST00000379533.2_Missense_Mutation_p.L714M|SNCAIP_ENST00000504884.2_3'UTR|SNCAIP_ENST00000414317.2_Missense_Mutation_p.L269M|SNCAIP_ENST00000542191.1_Missense_Mutation_p.L225M|CTC-210G5.1_ENST00000510972.1_RNA|CTC-210G5.1_ENST00000509993.1_RNA|SNCAIP_ENST00000503116.2_3'UTR|CTC-210G5.1_ENST00000503529.1_RNA|CTC-210G5.1_ENST00000505546.1_RNA|SNCAIP_ENST00000379536.2_Missense_Mutation_p.L607M|CTC-210G5.1_ENST00000506053.1_RNA|SNCAIP_ENST00000379538.3_Missense_Mutation_p.L301M	NM_005460.2	NP_005451.2	Q9Y6H5	SNCAP_HUMAN	synuclein, alpha interacting protein	667					cell death (GO:0008219)|dopamine metabolic process (GO:0042417)|regulation of inclusion body assembly (GO:0090083)|regulation of neurotransmitter secretion (GO:0046928)	cytoplasm (GO:0005737)|neuronal cell body (GO:0043025)|presynaptic membrane (GO:0042734)|synaptic vesicle (GO:0008021)	identical protein binding (GO:0042802)|ubiquitin protein ligase binding (GO:0031625)			NS(3)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	39		all_cancers(142;0.00787)|Prostate(80;0.0327)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232)		GTTAGCCAGGCTGAGACAGCT	0.512																																						ENST00000261367.7																			0				NS(3)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	39						c.(2140-2142)Ctg>Atg		synuclein, alpha interacting protein							42	44	44					5																	121786541		2203	4300	6503	SO:0001583	missense	9627				cell death|dopamine metabolic process|regulation of inclusion body assembly|regulation of neurotransmitter secretion	cytoplasm|neuronal cell body|nucleolus|presynaptic membrane	ubiquitin protein ligase binding	g.chr5:121786541C>A	AF167306	CCDS4131.1, CCDS58964.1	5q23.2	2013-01-10	2008-07-31		ENSG00000064692	ENSG00000064692		"Ankyrin repeat domain containing"	11139	protein-coding gene	gene with protein product	"synphilin"	603779				10319874	Standard	NM_001242935		Approved	SYPH1	uc003ksw.1	Q9Y6H5	OTTHUMG00000128915	ENST00000261368.8:c.1999C>A	5.37:g.121786541C>A	ENSP00000261368:p.Leu667Met					CTC-210G5.1_ENST00000509993.1_RNA|CTC-210G5.1_ENST00000506053.1_RNA|SNCAIP_ENST00000379533.2_Missense_Mutation_p.L714M|SNCAIP_ENST00000379536.2_Missense_Mutation_p.L607M|CTC-210G5.1_ENST00000510972.1_RNA|SNCAIP_ENST00000504884.2_3'UTR|SNCAIP_ENST00000261368.8_Missense_Mutation_p.L667M|SNCAIP_ENST00000414317.2_Missense_Mutation_p.L269M|SNCAIP_ENST00000542191.1_Missense_Mutation_p.L225M|CTC-210G5.1_ENST00000503529.1_RNA|SNCAIP_ENST00000379538.3_Missense_Mutation_p.L301M|CTC-210G5.1_ENST00000505546.1_RNA|SNCAIP_ENST00000503116.2_3'UTR	p.L714M			Q9Y6H5	SNCAP_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232)	12	3568	+		all_cancers(142;0.00787)|Prostate(80;0.0327)	667					D3DSZ1|Q05BS1|Q1PSC2|Q49AC6|Q504U9|Q6L984|Q6L985|Q6L986|Q9HC59	Missense_Mutation	SNP	ENST00000261368.8	37	c.2140C>A	CCDS4131.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.965049	0.74131	.	.	ENSG00000064692	ENST00000542191;ENST00000509154;ENST00000261368;ENST00000379533;ENST00000379536;ENST00000379538;ENST00000261367;ENST00000414317;ENST00000447854	T;T;T;T;T;T;T;T	0.34859	3.25;3.9;1.49;1.34;3.9;3.66;1.34;3.43	6.06	6.06	0.98353	.	0.000000	0.64402	D	0.000001	T	0.60983	0.2311	M	0.78049	2.395	0.54753	D	0.999988	D;D;D;D;D;D;D;D	0.89917	0.999;1.0;0.999;1.0;0.999;1.0;0.999;1.0	D;D;D;D;D;D;D;D	0.97110	0.999;0.998;0.993;0.999;1.0;0.999;0.994;0.998	T	0.61700	-0.7009	10	0.56958	D	0.05	-13.4087	13.7717	0.63029	0.0:0.9303:0.0:0.0697	.	607;295;269;607;301;301;714;667	D6R9G8;Q9NVG1;B7Z995;Q9Y6H5-4;Q9Y6H5-5;Q9Y6H5-2;Q9Y6H5-3;Q9Y6H5	.;.;.;.;.;.;.;SNCAP_HUMAN	M	225;607;667;714;607;301;714;269;307	ENSP00000441681:L225M;ENSP00000422106:L607M;ENSP00000261368:L667M;ENSP00000368848:L714M;ENSP00000368851:L607M;ENSP00000368854:L301M;ENSP00000261367:L714M;ENSP00000394392:L269M	ENSP00000261367:L714M	L	+	1	2	SNCAIP	121814440	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.543000	0.60684	2.882000	0.98803	0.655000	0.94253	CTG		0.512	SNCAIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250888.1			9	20	1	0	5.4927e-09	1	6.55379e-09	9	20					A	121786541	C	A	121786541	3	1	291	1	0	0	0	0	1	0	0	0	14841	796	28	5	2033	5	SNCAIP	5	121786541	Missense_Mutation	SNP	C	TCGA-J9-A8CM-01A-11D-A34U-08	41820582	121786541	59128719	21	14026											
PCDHA1	56147	broad.mit.edu	37	chr5	140167838	140167838	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tggtgctagtgaaggatcacGgtgagccggcgctgacagcc	8	7	16	10	3	1	3	1	3	0	0	1	4	1	4	2	4	3	2	2	4	2	1			TCGA-J9-A8CM-01A-11D-A34U-08	TCGA-J9-A8CM-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a01318-edcd-41e8-8be5-95fbc01e1e7e	b7b750a0-fdaa-42a2-b583-989423ec1b45	g.chr5:140167838G>A	ENST00000504120.2	+	1	1963	c.1963G>A	c.(1963-1965)Ggt>Agt	p.G655S	PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000378133.3_Missense_Mutation_p.G655S	NM_018900.2	NP_061723.1	Q9Y5I3	PCDA1_HUMAN	protocadherin alpha 1	655	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3)	70			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAAGGATCACGGTGAGCCGGC	0.662																																						ENST00000504120.2																			0				breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3)	70						c.(1963-1965)Ggt>Agt									49	54	52					5																	140167838		2203	4300	6503	SO:0001583	missense	0							g.chr5:140167838G>A	AF152479	CCDS54912.1, CCDS54913.1	5q31	2010-11-26				ENSG00000204970		"Cadherins / Protocadherins : Clustered"	8663	other	complex locus constituent	"KIAA0345-like 13"	606307				10380929	Standard	NM_018900		Approved			Q9Y5I3		ENST00000504120.2:c.1963G>A	5.37:g.140167838G>A	ENSP00000420840:p.Gly655Ser					PCDHA1_ENST00000378133.3_Missense_Mutation_p.G655S|PCDHA1_ENST00000394633.3_Intron	p.G655S	NM_018900.2	NP_061723.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1963	+								O75288|Q9NRT7	Missense_Mutation	SNP	ENST00000504120.2	37	c.1963G>A	CCDS54913.1	.	.	.	.	.	.	.	.	.	.	g	17.53	3.413859	0.62511	.	.	ENSG00000204970	ENST00000504120;ENST00000378133	T;T	0.48522	0.81;0.81	3.79	3.79	0.43588	Cadherin (4);Cadherin-like (1);	0.000000	0.39544	U	0.001335	T	0.77505	0.4140	H	0.95043	3.615	0.41875	D	0.990293	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.959	D	0.86269	0.1660	10	0.87932	D	0	.	16.0024	0.80306	0.0:0.0:1.0:0.0	.	655;655	Q9Y5I3;Q9Y5I3-3	PCDA1_HUMAN;.	S	655	ENSP00000420840:G655S;ENSP00000367373:G655S	ENSP00000367373:G655S	G	+	1	0	PCDHA1	140148022	1.000000	0.71417	0.999000	0.59377	0.106000	0.19336	9.295000	0.96095	1.818000	0.53035	0.650000	0.86243	GGT		0.662	PCDHA1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000389127.1	NM_018900		14	50	0	0	0	1	0	14	50					A	140167838	G	A	140167838	3	1	291	1	0	0	0	0	1	0	0	0	11519	1116	39	2	1965	2	PCDHA1	5	140167838	Missense_Mutation	SNP	G	TCGA-J9-A8CM-01A-11D-A34U-08	18381297	140167838	40747422	22	14027											
PCDHGB6	56100	broad.mit.edu	37	chr5	140788913	140788913	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atttcggaggaaatggagaaGtcaggtgtaatatagaaaca	17	9	12	3	1	1	2	1	0	0	2	2	5	1	4	0	4	1	1	0	4	6	4	rs573212606		TCGA-J9-A8CM-01A-11D-A34U-08	TCGA-J9-A8CM-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a01318-edcd-41e8-8be5-95fbc01e1e7e	b7b750a0-fdaa-42a2-b583-989423ec1b45	g.chr5:140788913G>A	ENST00000520790.1	+	1	1144	c.1144G>A	c.(1144-1146)Gtc>Atc	p.V382I	PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA3_ENST00000253812.6_Intron	NM_018926.2|NM_032100.1	NP_061749.1|NP_115271.1	Q9Y5F9	PCDGI_HUMAN	protocadherin gamma subfamily B, 6	382	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)	48			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AAATGGAGAAGTCAGGTGTAA	0.433																																						ENST00000520790.1																			0				breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)	48						c.(1144-1146)Gtc>Atc									52	52	52					5																	140788913		1880	4118	5998	SO:0001583	missense	0							g.chr5:140788913G>A	AF152522	CCDS54929.1, CCDS75342.1	5q31	2010-01-26				ENSG00000253305		"Cadherins / Protocadherins : Clustered"	8713	other	protocadherin		606303				10380929	Standard	NM_018926		Approved	PCDH-GAMMA-B6		Q9Y5F9		ENST00000520790.1:c.1144G>A	5.37:g.140788913G>A	ENSP00000428603:p.Val382Ile					PCDHGB3_ENST00000576222.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA4_ENST00000571252.1_Intron	p.V382I	NM_018926.2|NM_032100.1	NP_061749.1|NP_115271.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1144	+								Q9Y5C5	Missense_Mutation	SNP	ENST00000520790.1	37	c.1144G>A	CCDS54929.1	.	.	.	.	.	.	.	.	.	.	g	13.31	2.199942	0.38905	.	.	ENSG00000253305	ENST00000520790	T	0.47528	0.84	5.47	3.35	0.38373	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.42743	0.1216	L	0.37561	1.115	0.24512	N	0.994201	P;P	0.39551	0.678;0.675	B;B	0.43950	0.437;0.247	T	0.22068	-1.0227	9	0.36615	T	0.2	.	10.5332	0.44988	0.2364:0.0:0.7636:0.0	.	382;382	Q9Y5F9;Q9Y5F9-2	PCDGI_HUMAN;.	I	382	ENSP00000428603:V382I	ENSP00000428603:V382I	V	+	1	0	PCDHGB6	140769097	0.977000	0.34250	0.995000	0.50966	0.964000	0.63967	1.740000	0.38228	1.306000	0.44926	0.563000	0.77884	GTC		0.433	PCDHGB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374746.1	NM_018926		10	19	0	0	0	1	0	10	19					A	140788913	G	A	140788913	3	1	291	1	0	0	0	0	1	0	0	0	11567	1029	36	3	1146	3	PCDHGB6	5	140788913	Missense_Mutation	SNP	G	TCGA-J9-A8CM-01A-11D-A34U-08	621075	140788913	40126347	23	14028											
ADAM19	8728	broad.mit.edu	37	chr5	156915452	156915452	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ataatctggagggggccgggGaggaggctgggagggcttcc	7	6	21	7	1	1	0	0	0	1	0	2	4	2	4	2	9	0	2	2	9	1	2			TCGA-J9-A8CM-01A-11D-A34U-08	TCGA-J9-A8CM-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a01318-edcd-41e8-8be5-95fbc01e1e7e	b7b750a0-fdaa-42a2-b583-989423ec1b45	g.chr5:156915452G>A	ENST00000517905.1	-	21	2415	c.2371C>T	c.(2371-2373)Ccc>Tcc	p.P791S	ADAM19_ENST00000394020.1_Missense_Mutation_p.P793S|ADAM19_ENST00000430702.2_Missense_Mutation_p.P524S|ADAM19_ENST00000257527.4_Missense_Mutation_p.P791S			Q9H013	ADA19_HUMAN	ADAM metallopeptidase domain 19	791					heart development (GO:0007507)|membrane protein ectodomain proteolysis (GO:0006509)	integral component of membrane (GO:0016021)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53	Renal(175;0.00488)	Medulloblastoma(196;0.0359)|all_neural(177;0.14)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GGGGGCCGGGGAGGAGGCTGG	0.617																																						ENST00000257527.4																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53						c.(2371-2373)Ccc>Tcc		ADAM metallopeptidase domain 19							35	37	36					5																	156915452		2200	4293	6493	SO:0001583	missense	8728				proteolysis	integral to membrane	metalloendopeptidase activity|SH3 domain binding|zinc ion binding	g.chr5:156915452G>A	AF311317	CCDS4338.1	5q33.3	2010-06-24	2010-06-24		ENSG00000135074	ENSG00000135074		"ADAM metallopeptidase domain containing"	197	protein-coding gene	gene with protein product	"meltrin beta"	603640	"a disintegrin and metalloproteinase domain 19 (meltrin beta)"			9806848	Standard	NM_033274		Approved	MLTNB	uc003lwz.4	Q9H013	OTTHUMG00000130242	ENST00000517905.1:c.2371C>T	5.37:g.156915452G>A	ENSP00000428654:p.Pro791Ser					ADAM19_ENST00000430702.2_Missense_Mutation_p.P524S|ADAM19_ENST00000517905.1_Missense_Mutation_p.P791S|ADAM19_ENST00000394020.1_Missense_Mutation_p.P793S	p.P791S	NM_033274.3	NP_150377.1	Q9H013	ADA19_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		21	2449	-	Renal(175;0.00488)	Medulloblastoma(196;0.0359)|all_neural(177;0.14)	791					Q9BZL5|Q9UHP2	Missense_Mutation	SNP	ENST00000517905.1	37	c.2371C>T		.	.	.	.	.	.	.	.	.	.	G	13.14	2.147651	0.37923	.	.	ENSG00000135074	ENST00000430702;ENST00000257527;ENST00000394020;ENST00000517905	T;T;T;T	0.01584	4.75;4.84;4.86;4.82	5.58	3.75	0.43078	.	0.089642	0.49305	N	0.000145	T	0.02929	0.0087	L	0.55834	1.745	0.29022	N	0.886236	D;D;B	0.56521	0.976;0.958;0.149	P;P;B	0.51701	0.677;0.477;0.039	T	0.28267	-1.0049	10	0.13853	T	0.58	.	3.839	0.08906	0.2059:0.0:0.4771:0.317	.	791;791;524	Q9H013-2;Q9H013;E9PD32	.;ADA19_HUMAN;.	S	524;791;793;791	ENSP00000414088:P524S;ENSP00000257527:P791S;ENSP00000377588:P793S;ENSP00000428654:P791S	ENSP00000257527:P791S	P	-	1	0	ADAM19	156848030	1.000000	0.71417	0.969000	0.41365	0.190000	0.23558	2.496000	0.45346	0.674000	0.31244	0.491000	0.48974	CCC		0.617	ADAM19-003	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000373918.1	NM_033274		14	38	0	0	0	1	0	14	38					A	156915452	G	A	156915452	3	1	291	1	0	0	0	0	1	0	0	0	240	1174	41	3	397	3	ADAM19	5	156915452	Missense_Mutation	SNP	G	TCGA-J9-A8CM-01A-11D-A34U-08	16126539	156915452	23999808	24	14029											
BTNL3	10917	broad.mit.edu	37	chr5	180432567	180432567	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggatgacgtagacagggggAagaacaatgtgactttgtct	12	9	15	5	1	1	4	0	2	1	2	1	6	1	6	0	3	1	1	0	3	4	2			TCGA-J9-A8CM-01A-11D-A34U-08	TCGA-J9-A8CM-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a01318-edcd-41e8-8be5-95fbc01e1e7e	b7b750a0-fdaa-42a2-b583-989423ec1b45	g.chr5:180432567A>G	ENST00000342868.6	+	8	1280	c.1096A>G	c.(1096-1098)Aag>Gag	p.K366E	RNU6-1036P_ENST00000383959.1_RNA	NM_197975.2	NP_932079.1	Q6UXE8	BTNL3_HUMAN	butyrophilin-like 3	366	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.					integral component of membrane (GO:0016021)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(1)|lung(10)|prostate(2)|skin(1)	25	all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.00336)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)|all_lung(500;0.248)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000272)			AGACAGGGGGAAGAACAATGT	0.478																																						ENST00000342868.6																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(1)|lung(10)|prostate(2)|skin(1)	25						c.(1096-1098)Aag>Gag		butyrophilin-like 3							185	203	197					5																	180432567		2190	4285	6475	SO:0001583	missense	10917				lipid metabolic process	integral to membrane		g.chr5:180432567A>G	AB020625	CCDS47358.1	5q35	2014-01-14			ENSG00000168903	ENSG00000168903		"Immunoglobulin superfamily / V-set domain containing", "Butyrophilins"	1143	protein-coding gene	gene with protein product	"butyrophilin-like receptor"	606192				10429365	Standard	NM_197975		Approved	BTNLR, BTN9.1	uc003mmr.3	Q6UXE8	OTTHUMG00000162091	ENST00000342868.6:c.1096A>G	5.37:g.180432567A>G	ENSP00000341787:p.Lys366Glu						p.K366E	NM_197975.2	NP_932079.1	Q6UXE8	BTNL3_HUMAN	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000272)		8	1280	+	all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.00336)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)|all_lung(500;0.248)	366			B30.2/SPRY.		Q496L7|Q9Y2C7	Missense_Mutation	SNP	ENST00000342868.6	37	c.1096A>G	CCDS47358.1	.	.	.	.	.	.	.	.	.	.	A	8.410	0.844000	0.16963	.	.	ENSG00000168903	ENST00000342868;ENST00000376852	T	0.60424	0.19	3.0	-5.83	0.02325	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);Butyrophylin-like (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	.	.	.	.	T	0.33206	0.0855	N	0.13098	0.295	0.09310	N	1	B;B	0.28667	0.219;0.007	B;B	0.31946	0.138;0.002	T	0.26292	-1.0107	9	0.33940	T	0.23	.	5.4554	0.16588	0.5328:0.1507:0.3165:0.0	.	332;366	C9JDC2;Q6UXE8	.;BTNL3_HUMAN	E	366;332	ENSP00000341787:K366E	ENSP00000341787:K366E	K	+	1	0	BTNL3	180365173	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	0.351000	0.20096	-1.670000	0.01468	0.164000	0.16699	AAG		0.478	BTNL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367176.2	NM_197975		3	57	0	0	0	1	0	3	57					G	180432567	A	G	180432567	3	3	291	1	0	0	0	0	1	0	0	0	1566	247	9	4	1126	4	BTNL3	5	180432567	Missense_Mutation	SNP	A	TCGA-J9-A8CM-01A-11D-A34U-08	23517115	180432567	482693	25	14030											
LRRC16A	55604	broad.mit.edu	37	chr6	25551235	25551235	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgattcatgccagcaccgAaaagatttctattccacgta	12	12	6	11	2	2	2	1	1	1	1	3	3	3	2	3	0	2	2	3	0	4	6			TCGA-J9-A8CM-01A-11D-A34U-08	TCGA-J9-A8CM-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a01318-edcd-41e8-8be5-95fbc01e1e7e	b7b750a0-fdaa-42a2-b583-989423ec1b45	g.chr6:25551235A>G	ENST00000329474.6	+	27	2794	c.2426A>G	c.(2425-2427)gAa>gGa	p.E809G		NM_001173977.1|NM_017640.5	NP_001167448.1|NP_060110.4	Q5VZK9	LR16A_HUMAN	leucine rich repeat containing 16A	809					actin filament organization (GO:0007015)|barbed-end actin filament uncapping (GO:0051638)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|lamellipodium assembly (GO:0030032)|negative regulation of barbed-end actin filament capping (GO:2000813)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell migration (GO:0030335)|positive regulation of lamellipodium organization (GO:1902745)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|ruffle organization (GO:0031529)|urate metabolic process (GO:0046415)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|lamellipodium (GO:0030027)|nucleus (GO:0005634)	protein complex binding (GO:0032403)			breast(4)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	50						GCCAGCACCGAAAAGATTTCT	0.388																																						ENST00000329474.6																			0				breast(4)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	50						c.(2425-2427)gAa>gGa		leucine rich repeat containing 16A							170	160	163					6																	25551235		1879	4114	5993	SO:0001583	missense	55604				actin filament organization|blood coagulation|cell migration|lamellipodium assembly|ruffle organization|urate metabolic process	cytosol|lamellipodium|nucleus		g.chr6:25551235A>G	AK000055	CCDS54973.1	6p22.1	2010-09-10	2008-02-12	2008-02-12	ENSG00000079691	ENSG00000079691			21581	protein-coding gene	gene with protein product	"capping protein, Arp2/3, and Myosin-I Linker homolog 1 (Dictyostelium)"	609593	"leucine rich repeat containing 16"	LRRC16		19846667	Standard	NM_017640		Approved	dJ501N12.1, FLJ20048, CARMIL, CARMIL1	uc011djw.2	Q5VZK9	OTTHUMG00000014393	ENST00000329474.6:c.2426A>G	6.37:g.25551235A>G	ENSP00000331983:p.Glu809Gly						p.E809G	NM_001173977.1|NM_017640.5	NP_001167448.1|NP_060110.4	Q5VZK9	LR16A_HUMAN			27	2794	+			809					B8X1J0|Q6ZUH5|Q6ZW07|Q9NXU7	Missense_Mutation	SNP	ENST00000329474.6	37	c.2426A>G	CCDS54973.1	.	.	.	.	.	.	.	.	.	.	A	14.19	2.462177	0.43736	.	.	ENSG00000079691	ENST00000329474;ENST00000399313	T	0.19938	2.11	5.38	4.23	0.50019	.	0.318910	0.33772	N	0.004567	T	0.07954	0.0199	L	0.33485	1.01	0.80722	D	1	B;B;B;B	0.11235	0.001;0.001;0.004;0.001	B;B;B;B	0.11329	0.003;0.003;0.006;0.003	T	0.05835	-1.0861	10	0.49607	T	0.09	.	10.6412	0.45594	0.9253:0.0:0.0747:0.0	.	809;809;809;809	Q5VZK9;B2RTQ5;Q5VZK9-2;B8X1J0	LR16A_HUMAN;.;.;.	G	809	ENSP00000331983:E809G	ENSP00000331983:E809G	E	+	2	0	LRRC16A	25659214	1.000000	0.71417	0.982000	0.44146	0.999000	0.98932	3.382000	0.52463	2.027000	0.59764	0.528000	0.53228	GAA		0.388	LRRC16A-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000040045.2	NM_017640		15	84	0	0	0	1	0	15	84					G	25551235	A	G	25551235	3	3	291	1	0	0	0	0	1	0	0	0	8971	246	9	4	2532	4	LRRC16A	6	25551235	Missense_Mutation	SNP	A	TCGA-J9-A8CM-01A-11D-A34U-08		25551235	145563832	26	14031											
BAT1	7919	broad.mit.edu	37	chr6	31499163	31499163	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aggcaatgcaccgctgcacaGacttcacaaagatcaccacc	14	5	7	15	1	2	2	2	0	0	2	2	2	2	2	3	1	2	4	3	1	2	1			TCGA-J9-A8CM-01A-11D-A34U-08	TCGA-J9-A8CM-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a01318-edcd-41e8-8be5-95fbc01e1e7e	b7b750a0-fdaa-42a2-b583-989423ec1b45	g.chr6:31499163G>C	ENST00000396172.1	-	8	1517	c.887C>G	c.(886-888)tCt>tGt	p.S296C	DDX39B_ENST00000376177.2_Missense_Mutation_p.S296C|DDX39B_ENST00000417556.2_Missense_Mutation_p.S311C|DDX39B_ENST00000415382.2_Missense_Mutation_p.S218C|ATP6V1G2-DDX39B_ENST00000376185.1_3'UTR|DDX39B_ENST00000462421.1_5'Flank|DDX39B_ENST00000458640.1_Missense_Mutation_p.S296C	NM_004640.6	NP_004631.1	Q13838	DX39B_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 39B	296	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				ATP catabolic process (GO:0006200)|mRNA export from nucleus (GO:0006406)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of DNA damage checkpoint (GO:2000002)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|RNA secondary structure unwinding (GO:0010501)|RNA splicing (GO:0008380)|spliceosomal complex assembly (GO:0000245)|viral mRNA export from host cell nucleus (GO:0046784)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|transcription export complex (GO:0000346)	ATP binding (GO:0005524)|ATP-dependent protein binding (GO:0043008)|ATP-dependent RNA helicase activity (GO:0004004)|poly(A) RNA binding (GO:0044822)|RNA-dependent ATPase activity (GO:0008186)|U4 snRNA binding (GO:0030621)|U6 snRNA binding (GO:0017070)			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19						CCGCTGCACAGACTTCACAAA	0.587																																						ENST00000417556.2																			0				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19						c.(931-933)tCt>tGt		DEAD (Asp-Glu-Ala-Asp) box polypeptide 39B							60	58	58					6																	31499163		2203	4300	6503	SO:0001583	missense	7919				intronless viral mRNA export from host nucleus|RNA secondary structure unwinding|spliceosome assembly	nuclear speck|spliceosomal complex|transcription export complex	ATP binding|ATP-dependent protein binding|ATP-dependent RNA helicase activity|identical protein binding|U4 snRNA binding|U6 snRNA binding	g.chr6:31499163G>C	Z37166	CCDS4697.1	6p21.33	2011-02-09	2011-02-08	2011-02-08	ENSG00000198563	ENSG00000198563		"DEAD-boxes"	13917	protein-coding gene	gene with protein product	"U2AF65-associated protein 56"	142560	"HLA-B associated transcript 1"	BAT1		7601445, 2813433	Standard	NM_004640		Approved	D6S81E, UAP56	uc003ntu.3	Q13838	OTTHUMG00000031165	ENST00000396172.1:c.887C>G	6.37:g.31499163G>C	ENSP00000379475:p.Ser296Cys					DDX39B_ENST00000376177.2_Missense_Mutation_p.S296C|DDX39B_ENST00000415382.2_Missense_Mutation_p.S218C|DDX39B_ENST00000458640.1_Missense_Mutation_p.S296C|ATP6V1G2-DDX39B_ENST00000376185.1_3'UTR|DDX39B_ENST00000396172.1_Missense_Mutation_p.S296C	p.S311C			Q13838	DX39B_HUMAN			9	1562	-			296			Helicase C-terminal.		B0S8C0|O43496|Q0EFA1|Q2L6F9|Q53GL9|Q5RJ64|Q5RJ66|Q5ST94|Q5STB4|Q5STB5|Q5STB7|Q5STB8|Q5STU4|Q5STU5|Q5STU6|Q5STU8|Q71V76	Missense_Mutation	SNP	ENST00000396172.1	37	c.932C>G	CCDS4697.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	23.5|23.5	4.419892|4.419892	0.83559|0.83559	.|.	.|.	ENSG00000198563|ENSG00000198563	ENST00000417023|ENST00000376177;ENST00000458640;ENST00000396172;ENST00000417556;ENST00000415382;ENST00000431908	.|D;T;T;T;T;T	.|0.92858	.|-3.12;3.37;3.37;3.37;3.37;3.37	5.55|5.55	5.55|5.55	0.83447|0.83447	.|Helicase, C-terminal (1);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.96018|0.96018	0.8703|0.8703	M|M	0.87180|0.87180	2.865|2.865	0.80722|0.80722	D|D	1|1	.|D;D;D;D;D	.|0.89917	.|1.0;0.985;0.999;0.997;0.985	.|D;P;P;P;P	.|0.66497	.|0.944;0.803;0.851;0.809;0.708	D|D	0.96055|0.96055	0.9034|0.9034	5|10	.|0.87932	.|D	.|0	-15.951|-15.951	17.0466|17.0466	0.86505|0.86505	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|218;296;296;311;195	.|B4DP52;Q13838;Q5STU3;F8VQ10;B0V2L1	.|.;DX39B_HUMAN;.;.;.	V|C	60|296;296;296;311;218;218	.|ENSP00000365347:S296C;ENSP00000416269:S296C;ENSP00000379475:S296C;ENSP00000412582:S311C;ENSP00000392669:S218C;ENSP00000408000:S218C	.|ENSP00000365347:S296C	L|S	-|-	1|2	2|0	DDX39B|DDX39B	31607142|31607142	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.939000|0.939000	0.58152|0.58152	8.873000|8.873000	0.92357|0.92357	2.894000|2.894000	0.99253|0.99253	0.655000|0.655000	0.94253|0.94253	CTG|TCT		0.587	DDX39B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259083.1	NM_004640		6	25	0	0	0	1	0	6	25					C	31499163	G	C	31499163	3	2	291	1	0	0	0	0	1	0	0	0	1318	942	33	5	415	5	BAT1	6	31499163	Missense_Mutation	SNP	G	TCGA-J9-A8CM-01A-11D-A34U-08	5947928	31499163	139615904	27	14032											
B3GALT4	8705	broad.mit.edu	37	chr6	33245707	33245707	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actgccccatggcccgatacGtcctcaagacggacgatgat	10	7	10	14	4	1	2	1	1	0	1	2	5	2	3	4	2	2	0	4	2	2	1			TCGA-J9-A8CM-01A-11D-A34U-08	TCGA-J9-A8CM-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a01318-edcd-41e8-8be5-95fbc01e1e7e	b7b750a0-fdaa-42a2-b583-989423ec1b45	g.chr6:33245707G>A	ENST00000451237.1	+	1	791	c.511G>A	c.(511-513)Gtc>Atc	p.V171I		NM_003782.3	NP_003773.1	O96024	B3GT4_HUMAN	UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 4	171					protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	ganglioside galactosyltransferase activity (GO:0047915)|UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity (GO:0008499)			breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|pancreas(1)|prostate(1)|soft_tissue(1)|urinary_tract(2)	13						GGCCCGATACGTCCTCAAGAC	0.587																																						ENST00000451237.1																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|pancreas(1)|prostate(1)|soft_tissue(1)|urinary_tract(2)	13						c.(511-513)Gtc>Atc		UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 4							71	75	74					6																	33245707		2203	4300	6503	SO:0001583	missense	8705				protein glycosylation	Golgi membrane|integral to membrane	ganglioside galactosyltransferase activity|UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity	g.chr6:33245707G>A	Y15061	CCDS34425.1	6p21.3	2013-02-19			ENSG00000235863	ENSG00000235863		"Beta 3-glycosyltransferases"	919	protein-coding gene	gene with protein product		603095				9582303	Standard	NM_003782		Approved	beta3Gal-T4, GalT4	uc003odr.3	O96024	OTTHUMG00000031100	ENST00000451237.1:c.511G>A	6.37:g.33245707G>A	ENSP00000390784:p.Val171Ile						p.V171I	NM_003782.3	NP_003773.1	O96024	B3GT4_HUMAN			1	791	+			171						Missense_Mutation	SNP	ENST00000451237.1	37	c.511G>A	CCDS34425.1	.	.	.	.	.	.	.	.	.	.	G	0.016	-1.513108	0.00975	.	.	ENSG00000235863	ENST00000451237	T	0.35048	1.33	4.82	-3.61	0.04556	.	0.489229	0.20154	N	0.098093	T	0.02807	0.0084	N	0.02158	-0.66	0.25379	N	0.988631	B	0.13594	0.008	B	0.14023	0.01	T	0.41875	-0.9484	10	0.07813	T	0.8	.	9.9227	0.41474	0.2194:0.1475:0.6331:0.0	.	171	O96024	B3GT4_HUMAN	I	171	ENSP00000390784:V171I	ENSP00000390784:V171I	V	+	1	0	B3GALT4	33353685	0.002000	0.14202	0.958000	0.39756	0.004000	0.04260	-0.846000	0.04336	-0.543000	0.06240	-0.366000	0.07423	GTC		0.587	B3GALT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076162.2			4	68	0	0	0	1	0	4	68					A	33245707	G	A	33245707	3	1	291	1	0	0	0	0	1	0	0	0	1249	1145	40	1	513	1	B3GALT4	6	33245707	Missense_Mutation	SNP	G	TCGA-J9-A8CM-01A-11D-A34U-08	1746544	33245707	137869360	28	14033											
WDR46	9277	broad.mit.edu	37	chr6	33255194	33255194	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgttactcggtcacagcggcGgatacagtggagctcaatgc	9	9	13	10	3	2	0	2	0	0	0	3	2	2	2	0	4	5	2	0	4	3	2	rs141256696	byFrequency	TCGA-J9-A8CM-01A-11D-A34U-08	TCGA-J9-A8CM-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a01318-edcd-41e8-8be5-95fbc01e1e7e	b7b750a0-fdaa-42a2-b583-989423ec1b45	g.chr6:33255194G>A	ENST00000374617.4	-	8	1173	c.817C>T	c.(817-819)Cgc>Tgc	p.R273C	PFDN6_ENST00000374610.2_5'Flank|PFDN6_ENST00000395131.1_5'Flank|PFDN6_ENST00000374607.1_5'Flank|PFDN6_ENST00000374606.5_5'Flank|WDR46_ENST00000477718.1_5'Flank|PFDN6_ENST00000463584.1_5'Flank	NM_001164267.1|NM_005452.5	NP_001157739.1|NP_005443.3	O15213	WDR46_HUMAN	WD repeat domain 46	273							poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)	20						TCACAGCGGCGGATACAGTGG	0.572																																						ENST00000374617.4																			0				NS(1)|breast(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)	20						c.(817-819)Cgc>Tgc		WD repeat domain 46		G	CYS/ARG,CYS/ARG	4,4402	8.1+/-20.4	0,4,2199	95	90	92		655,817	4.4	1	6	dbSNP_134	92	0,8600		0,0,4300	no	missense,missense	WDR46	NM_001164267.1,NM_005452.5	180,180	0,4,6499	AA,AG,GG		0.0,0.0908,0.0308	probably-damaging,probably-damaging	219/557,273/611	33255194	4,13002	2203	4300	6503	SO:0001583	missense	9277							g.chr6:33255194G>A	Z97184	CCDS4772.1	6p21.3	2013-01-09	2005-05-31	2005-05-31	ENSG00000227057	ENSG00000227057		"WD repeat domain containing"	13923	protein-coding gene	gene with protein product		611440	"chromosome 6 open reading frame 11"	C6orf11		9545376, 9521053	Standard	NM_005452		Approved	BING4, UTP7	uc003ods.3	O15213	OTTHUMG00000031192	ENST00000374617.4:c.817C>T	6.37:g.33255194G>A	ENSP00000363746:p.Arg273Cys						p.R273C	NM_001164267.1|NM_005452.5	NP_001157739.1|NP_005443.3	O15213	WDR46_HUMAN			8	1173	-			273					A6NDP5|Q5HYZ0|Q5STK5|Q5STR3	Missense_Mutation	SNP	ENST00000374617.4	37	c.817C>T	CCDS4772.1	.	.	.	.	.	.	.	.	.	.	G	17.21	3.332534	0.60853	9.08E-4	0.0	ENSG00000227057	ENST00000374617;ENST00000444176	T;T	0.18502	4.94;2.21	4.42	4.42	0.53409	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.124663	0.50627	D	0.000118	T	0.23210	0.0561	L	0.54323	1.7	0.54753	D	0.999982	D;D	0.89917	1.0;1.0	D;D	0.69654	0.964;0.965	T	0.00888	-1.1526	10	0.87932	D	0	-16.3035	9.7563	0.40504	0.0:0.0:0.7942:0.2058	.	219;273	B4DP15;O15213	.;WDR46_HUMAN	C	273;200	ENSP00000363746:R273C;ENSP00000405568:R200C	ENSP00000363746:R273C	R	-	1	0	WDR46	33363172	1.000000	0.71417	0.999000	0.59377	0.907000	0.53573	3.728000	0.54991	2.278000	0.76064	0.549000	0.68633	CGC		0.572	WDR46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076382.2	NM_005452		12	35	0	0	0	1	0	12	35					A	33255194	G	A	33255194	3	1	291	1	0	0	0	0	1	0	0	0	17296	1116	39	2	1047	2	WDR46	6	33255194	Missense_Mutation	SNP	G	TCGA-J9-A8CM-01A-11D-A34U-08	9487	33255194	137859873	29	14034											
MOCS1	4337	broad.mit.edu	37	chr6	39902050	39902050	+	Frame_Shift_Del	DEL	G	G	-																															tcacctccgaggcagctcgcGcggactccccggggcagggc																										TCGA-J9-A8CM-01A-11D-A34U-08	TCGA-J9-A8CM-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a01318-edcd-41e8-8be5-95fbc01e1e7e	b7b750a0-fdaa-42a2-b583-989423ec1b45	g.chr6:39902050delG	ENST00000340692.5	-	1	110	c.107delC	c.(106-108)gcgfs	p.A36fs	MOCS1_ENST00000308559.7_Frame_Shift_Del_p.A36fs|MOCS1_ENST00000373195.3_5'UTR|MOCS1_ENST00000373188.2_Frame_Shift_Del_p.A36fs			Q9NZB8	MOCS1_HUMAN	molybdenum cofactor synthesis 1	36	Molybdenum cofactor biosynthesis protein A.				Mo-molybdopterin cofactor biosynthetic process (GO:0006777)|molybdopterin cofactor biosynthetic process (GO:0032324)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|molybdopterin synthase complex (GO:0019008)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|cyclic pyranopterin monophosphate synthase activity (GO:0061597)|GTP binding (GO:0005525)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	21	Ovarian(28;0.0355)|Colorectal(47;0.196)					GGCAGCTCGCGCGGACTCCCC	0.746																																					NSCLC(84;861 1413 23785 24908 42279)|Melanoma(182;611 2047 9114 11847 26639)	ENST00000308559.7																			0				central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	21						c.(106-108)ggfs		molybdenum cofactor synthesis 1							2	4	3					6																	39902050		1470	3407	4877	SO:0001589	frameshift_variant	4337				Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol|molybdopterin synthase complex|nucleus	4 iron, 4 sulfur cluster binding|catalytic activity|GTP binding|metal ion binding	g.chr6:39902050delG	AJ224328	CCDS4846.1, CCDS43460.1	6p21.2	2012-05-08			ENSG00000124615	ENSG00000124615			7190	protein-coding gene	gene with protein product		603707				9731530, 10053004	Standard	NM_001075098		Approved	MOCOD	uc003opb.3	Q9NZB8	OTTHUMG00000014656	ENST00000340692.5:c.107delC	6.37:g.39902050delG	ENSP00000344794:p.Ala36fs					MOCS1_ENST00000373195.3_5'UTR|MOCS1_ENST00000340692.5_Frame_Shift_Del_p.A36fs|MOCS1_ENST00000373188.2_Frame_Shift_Del_p.A36fs	p.A36fs			Q9NZB8	MOCS1_HUMAN			1	240	-	Ovarian(28;0.0355)|Colorectal(47;0.196)		36			Molybdenum cofactor biosynthesis protein A.		B3KPT7|B4DTP1|O14940|O14941|O75710|Q5J7W0|Q5TCE1|Q5TCE2|Q5TCE6|Q5TCE9|Q5TCF0|Q5TCF1|Q8N418|Q9NZB7|Q9UEM1	Frame_Shift_Del	DEL	ENST00000340692.5	37	c.107delC																																																																																					0.746	MOCS1-005	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000040476.2	NM_005943		2	4						2	4	---	---	---	---	-	39902050	G	-	39902050	7	5	291	1	0	1	0	1	0	0	0	0	9690	1087	38	0	1213	0	MOCS1	6	39902050	Frame_Shift_Del	DEL	G	TCGA-J9-A8CM-01A-11D-A34U-08	6646856	39902050	131213017	30	14035											
PEX6	5190	broad.mit.edu	37	chr6	42936629	42936629	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caccttcagtaagtggagccCaaggtgactacaggcagcag	12	6	12	11	0	1	1	1	1	0	0	1	2	1	2	2	3	3	3	2	3	3	3			TCGA-J9-A8CM-01A-11D-A34U-08	TCGA-J9-A8CM-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a01318-edcd-41e8-8be5-95fbc01e1e7e	b7b750a0-fdaa-42a2-b583-989423ec1b45	g.chr6:42936629C>T	ENST00000304611.8	-	6	1531	c.1462G>A	c.(1462-1464)Ggg>Agg	p.G488R	PEX6_ENST00000244546.4_Missense_Mutation_p.G488R	NM_000287.3	NP_000278.3	Q13608	PEX6_HUMAN	peroxisomal biogenesis factor 6	488					ATP catabolic process (GO:0006200)|peroxisome organization (GO:0007031)|protein import into peroxisome matrix, translocation (GO:0016561)|protein stabilization (GO:0050821)|protein targeting to peroxisome (GO:0006625)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled (GO:0042623)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)			NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(3)	15			all cancers(41;0.00235)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.0562)			AAGTGGAGCCCAAGGTGACTA	0.597																																						ENST00000304611.8																			0				NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(3)	15						c.(1462-1464)Ggg>Agg		peroxisomal biogenesis factor 6							109	101	104					6																	42936629		2203	4300	6503	SO:0001583	missense	5190				protein import into peroxisome matrix, translocation|protein stabilization	cytosol|peroxisomal membrane	ATP binding|ATPase activity, coupled|protein C-terminus binding|protein complex binding	g.chr6:42936629C>T	U56602	CCDS4877.1	6p22-p11	2010-04-21			ENSG00000124587	ENSG00000124587		"ATPases / AAA-type"	8859	protein-coding gene	gene with protein product		601498				8670792	Standard	NM_000287		Approved	PXAAA1, PAF-2	uc003otf.3	Q13608	OTTHUMG00000014713	ENST00000304611.8:c.1462G>A	6.37:g.42936629C>T	ENSP00000303511:p.Gly488Arg					PEX6_ENST00000244546.4_Missense_Mutation_p.G488R	p.G488R	NM_000287.3	NP_000278.3	Q13608	PEX6_HUMAN	all cancers(41;0.00235)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.0562)		6	1531	-			488					Q5T8W1|Q8WYQ0|Q8WYQ1|Q8WYQ2|Q99476	Missense_Mutation	SNP	ENST00000304611.8	37	c.1462G>A	CCDS4877.1	.	.	.	.	.	.	.	.	.	.	C	18.11	3.550991	0.65311	.	.	ENSG00000124587	ENST00000304611;ENST00000244546	T;T	0.80909	-1.43;-1.43	5.13	5.13	0.70059	ATPase, AAA-type, core (1);ATPase, AAA+ type, core (1);	0.474834	0.26026	N	0.026785	T	0.81837	0.4907	L	0.49778	1.585	0.35215	D	0.775506	D	0.89917	1.0	D	0.78314	0.991	D	0.84162	0.0429	10	0.72032	D	0.01	-28.4322	9.4904	0.38955	0.0:0.907:0.0:0.093	.	488	Q13608	PEX6_HUMAN	R	488	ENSP00000303511:G488R;ENSP00000244546:G488R	ENSP00000244546:G488R	G	-	1	0	PEX6	43044607	0.076000	0.21285	0.992000	0.48379	0.875000	0.50365	1.131000	0.31406	2.678000	0.91216	0.655000	0.94253	GGG		0.597	PEX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040569.1	NM_000287		10	55	0	0	0	1	0	10	55					T	42936629	C	T	42936629	3	4	291	1	0	0	0	0	1	0	0	0	11750	594	21	3	1528	3	PEX6	6	42936629	Missense_Mutation	SNP	C	TCGA-J9-A8CM-01A-11D-A34U-08	3034579	42936629	128178438	31	14036											
COL21A1	81578	broad.mit.edu	37	chr6	56035506	56035506	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	attaattacgctggttgttgTaaataataagattttgtcca	13	17	7	4	1	0	1	0	0	0	1	1	1	1	1	1	1	1	4	1	1	6	9			TCGA-J9-A8CM-01A-11D-A34U-08	TCGA-J9-A8CM-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a01318-edcd-41e8-8be5-95fbc01e1e7e	b7b750a0-fdaa-42a2-b583-989423ec1b45	g.chr6:56035506T>A	ENST00000244728.5	-	5	1364	c.967A>T	c.(967-969)Aca>Tca	p.T323S	COL21A1_ENST00000370819.1_Missense_Mutation_p.T323S|COL21A1_ENST00000535941.1_Missense_Mutation_p.T323S	NM_030820.3	NP_110447.2	Q96P44	COLA1_HUMAN	collagen, type XXI, alpha 1	323	Laminin G-like.				extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				breast(1)|endometrium(1)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|prostate(2)	41	Lung NSC(77;0.0483)		LUSC - Lung squamous cell carcinoma(124;0.181)			CTGGTTGTTGTAAATAATAAG	0.343																																						ENST00000244728.5																			0				breast(1)|endometrium(1)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|prostate(2)	41						c.(967-969)Aca>Tca		collagen, type XXI, alpha 1							82	73	76					6																	56035506		1867	4099	5966	SO:0001583	missense	0				cell adhesion	collagen|cytoplasm	structural molecule activity	g.chr6:56035506T>A	AF330693	CCDS55025.1	6p12.3-p11.2	2013-01-16			ENSG00000124749	ENSG00000124749		"Collagens"	17025	protein-coding gene	gene with protein product		610002				11566190	Standard	XR_241922		Approved		uc003pcs.3	Q96P44	OTTHUMG00000014907	ENST00000244728.5:c.967A>T	6.37:g.56035506T>A	ENSP00000244728:p.Thr323Ser					COL21A1_ENST00000535941.1_Missense_Mutation_p.T323S|COL21A1_ENST00000370819.1_Missense_Mutation_p.T323S	p.T323S	NM_030820.3	NP_110447.2	Q96P44	COLA1_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.181)		5	1364	-	Lung NSC(77;0.0483)		323			TSP N-terminal.		A6NIX5|B2R8J9|Q49A51|Q71RF4|Q8WXV8|Q9H0V3	Missense_Mutation	SNP	ENST00000244728.5	37	c.967A>T	CCDS55025.1	.	.	.	.	.	.	.	.	.	.	T	8.607	0.888200	0.17540	.	.	ENSG00000124749	ENST00000244728;ENST00000370819;ENST00000535941;ENST00000370811	T;T;T	0.13420	2.59;2.59;2.59	4.38	3.19	0.36642	Concanavalin A-like lectin/glucanase (1);Laminin G, thrombospondin-type, N-terminal (1);	0.000000	0.56097	D	0.000040	T	0.10165	0.0249	L	0.32530	0.975	0.80722	D	1	D;D	0.71674	0.998;0.997	D;D	0.80764	0.994;0.97	T	0.07214	-1.0784	10	0.09843	T	0.71	.	10.9051	0.47076	0.0:0.0:0.1581:0.8419	.	323;323	Q96P44-3;Q96P44	.;COLA1_HUMAN	S	323	ENSP00000244728:T323S;ENSP00000359855:T323S;ENSP00000444384:T323S	ENSP00000244728:T323S	T	-	1	0	COL21A1	56143465	1.000000	0.71417	0.972000	0.41901	0.050000	0.14768	4.502000	0.60400	0.528000	0.28580	-0.438000	0.05819	ACA		0.343	COL21A1-001	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041004.2			3	13	0	0	0	1	0	3	13					A	56035506	T	A	56035506	3	1	291	1	0	0	0	0	1	0	0	0	3680	1638	57	5	2010	5	COL21A1	6	56035506	Missense_Mutation	SNP	T	TCGA-J9-A8CM-01A-11D-A34U-08	13098877	56035506	115079561	32	14037											
SNAP91	9892	broad.mit.edu	37	chr6	84269827	84269827	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cattgaagaaactgacctgcGtgccaggtacagcggcagct	11	7	12	11	2	0	3	0	2	0	1	0	3	0	3	2	2	6	3	2	2	3	2	rs368296899		TCGA-J9-A8CM-01A-11D-A34U-08	TCGA-J9-A8CM-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a01318-edcd-41e8-8be5-95fbc01e1e7e	b7b750a0-fdaa-42a2-b583-989423ec1b45	g.chr6:84269827G>A	ENST00000439399.2	-	28	2943	c.2627C>T	c.(2626-2628)aCg>aTg	p.T876M	SNAP91_ENST00000521743.1_Missense_Mutation_p.T876M|SNAP91_ENST00000195649.6_Missense_Mutation_p.T871M|SNAP91_ENST00000520302.1_Missense_Mutation_p.T846M|SNAP91_ENST00000520213.1_Missense_Mutation_p.T569M|SNAP91_ENST00000521485.1_Missense_Mutation_p.T871M|SNAP91_ENST00000428679.2_Missense_Mutation_p.T876M|SNAP91_ENST00000437520.1_Missense_Mutation_p.T569M|SNAP91_ENST00000369694.2_Missense_Mutation_p.T876M	NM_014841.2	NP_055656.1	O60641	AP180_HUMAN	synaptosomal-associated protein, 91kDa	876	Pro-rich.				clathrin coat assembly (GO:0048268)|protein transport (GO:0015031)	clathrin coat (GO:0030118)|coated pit (GO:0005905)|plasma membrane (GO:0005886)	1-phosphatidylinositol binding (GO:0005545)|protein kinase binding (GO:0019901)			breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(22)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;2.91e-07)|all_hematologic(105;0.000337)|all_epithelial(107;0.0575)		BRCA - Breast invasive adenocarcinoma(397;0.0967)		ACTGACCTGCGTGCCAGGTAC	0.478																																						ENST00000428679.2																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(22)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						c.(2626-2628)aCg>aTg		synaptosomal-associated protein, 91kDa		G	MET/THR,MET/THR,MET/THR,MET/THR	1,3859		0,1,1929	60	60	60		2627,2537,1706,2627	5.6	1	6		60	0,8276		0,0,4138	no	missense,missense,missense,missense	SNAP91	NM_001242792.1,NM_001242793.1,NM_001242794.1,NM_014841.2	81,81,81,81	0,1,6067	AA,AG,GG		0.0,0.0259,0.0082	possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging	876/908,846/878,569/601,876/908	84269827	1,12135	1930	4138	6068	SO:0001583	missense	9892				clathrin coat assembly	clathrin coat|coated pit|plasma membrane	1-phosphatidylinositol binding|clathrin binding	g.chr6:84269827G>A	AB014556	CCDS47455.1, CCDS56437.1, CCDS56438.1	6q15	2012-12-07	2012-12-07		ENSG00000065609	ENSG00000065609			14986	protein-coding gene	gene with protein product		607923	"synaptosomal-associated protein, 91 kDa (mouse) homolog", "synaptosomal-associated protein, 91kDa homolog (mouse)"			9734811, 12493563, 10436022	Standard	NM_014841		Approved	KIAA0656, AP180, CALM	uc003pka.3	O60641	OTTHUMG00000015114	ENST00000439399.2:c.2627C>T	6.37:g.84269827G>A	ENSP00000400459:p.Thr876Met					SNAP91_ENST00000195649.6_Missense_Mutation_p.T871M|SNAP91_ENST00000439399.2_Missense_Mutation_p.T876M|SNAP91_ENST00000437520.1_Missense_Mutation_p.T569M|SNAP91_ENST00000521743.1_Missense_Mutation_p.T876M|SNAP91_ENST00000520302.1_Missense_Mutation_p.T846M|SNAP91_ENST00000520213.1_Missense_Mutation_p.T569M|SNAP91_ENST00000369694.2_Missense_Mutation_p.T876M|SNAP91_ENST00000521485.1_Missense_Mutation_p.T871M	p.T876M			O60641	AP180_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.0967)	28	3220	-		all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;2.91e-07)|all_hematologic(105;0.000337)|all_epithelial(107;0.0575)	876			Pro-rich.		A8K0L7|E5RI02|Q5JX13|Q68DL9|Q6P9D3|Q9NTY7	Missense_Mutation	SNP	ENST00000439399.2	37	c.2627C>T	CCDS47455.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.173713	0.78452	2.59E-4	0.0	ENSG00000065609	ENST00000521485;ENST00000369694;ENST00000439399;ENST00000195649;ENST00000428679;ENST00000437520;ENST00000520302;ENST00000521743;ENST00000520213;ENST00000523448	T;T;T;T;T;T;T;T;T;T	0.26810	2.28;2.28;2.28;2.28;2.28;2.34;2.3;2.28;2.34;1.71	5.62	5.62	0.85841	.	0.339698	0.32802	N	0.005639	T	0.20820	0.0501	N	0.24115	0.695	0.22819	N	0.998697	P;D;D;D;P	0.69078	0.898;0.997;0.971;0.971;0.832	B;P;P;P;B	0.60236	0.154;0.871;0.474;0.474;0.306	T	0.06917	-1.0800	10	0.87932	D	0	-6.2075	13.3527	0.60611	0.0814:0.0:0.9186:0.0	.	752;569;846;876;874	B7Z2N2;O60641-3;E5RI02;O60641;E1P549	.;.;.;AP180_HUMAN;.	M	871;876;876;871;876;569;846;876;569;217	ENSP00000429776:T871M;ENSP00000358708:T876M;ENSP00000400459:T876M;ENSP00000195649:T871M;ENSP00000412492:T876M;ENSP00000413277:T569M;ENSP00000428511:T846M;ENSP00000428215:T876M;ENSP00000428026:T569M;ENSP00000430255:T217M	ENSP00000195649:T871M	T	-	2	0	SNAP91	84326546	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	5.448000	0.66612	2.650000	0.89964	0.561000	0.74099	ACG		0.478	SNAP91-007	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000375296.1			9	36	0	0	0	1	0	9	36					A	84269827	G	A	84269827	3	1	291	1	0	0	0	0	1	0	0	0	14833	1145	40	1	104	1	SNAP91	6	84269827	Missense_Mutation	SNP	G	TCGA-J9-A8CM-01A-11D-A34U-08	28234321	84269827	86845240	33	14038											
NOD1	10392	broad.mit.edu	37	chr7	30491972	30491972	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cataggcgcgcaggtggctgGgggagaagccccggagaagc	9	3	19	10	3	0	2	0	0	0	2	0	4	0	2	2	6	2	2	2	6	3	1	rs72551104|rs72551106	byFrequency	TCGA-J9-A8CM-01A-11D-A34U-08	TCGA-J9-A8CM-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a01318-edcd-41e8-8be5-95fbc01e1e7e	b7b750a0-fdaa-42a2-b583-989423ec1b45	g.chr7:30491972G>A	ENST00000222823.4	-	6	1586	c.1061C>T	c.(1060-1062)cCc>cTc	p.P354L	NOD1_ENST00000423334.2_3'UTR	NM_006092.2	NP_006083.1	Q9Y239	NOD1_HUMAN	nucleotide-binding oligomerization domain containing 1	354	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of MAPK activity (GO:0000187)|apoptotic process (GO:0006915)|defense response (GO:0006952)|defense response to bacterium (GO:0042742)|defense response to Gram-positive bacterium (GO:0050830)|detection of bacterium (GO:0016045)|detection of biotic stimulus (GO:0009595)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-8 biosynthetic process (GO:0042228)|intracellular signal transduction (GO:0035556)|JNK cascade (GO:0007254)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of dendritic cell antigen processing and presentation (GO:0002606)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of JNK cascade (GO:0046330)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of tumor necrosis factor production (GO:0032760)|protein oligomerization (GO:0051259)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|CARD domain binding (GO:0050700)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|identical protein binding (GO:0042802)|peptidoglycan binding (GO:0042834)|protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(2)|prostate(1)|skin(2)	39						CAGGTGGCTGGGGGAGAAGCC	0.677																																						ENST00000222823.4																			0				breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(2)|prostate(1)|skin(2)	39						c.(1060-1062)cCc>cTc		nucleotide-binding oligomerization domain containing 1							26	32	30					7																	30491972		2201	4300	6501	SO:0001583	missense	10392				activation of MAPK activity|detection of bacterium|induction of apoptosis|inflammatory response|innate immune response|interleukin-8 biosynthetic process|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of dendritic cell antigen processing and presentation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protein oligomerization|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	basolateral plasma membrane|cytosol	ATP binding|CARD domain binding|caspase activator activity|peptidoglycan binding|protein homodimerization activity	g.chr7:30491972G>A	AF126484	CCDS5427.1	7p15-p14	2006-12-08	2006-12-08	2006-12-08	ENSG00000106100	ENSG00000106100		"Nucleotide-binding domain and leucine rich repeat containing"	16390	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 1", "NLR family, CARD domain containing 1"	605980	"caspase recruitment domain family, member 4"	CARD4		10224040, 10329646	Standard	NM_006092		Approved	NLRC1, CLR7.1	uc003tav.3	Q9Y239	OTTHUMG00000023923	ENST00000222823.4:c.1061C>T	7.37:g.30491972G>A	ENSP00000222823:p.Pro354Leu					NOD1_ENST00000423334.2_3'UTR	p.P354L	NM_006092.2	NP_006083.1	Q9Y239	NOD1_HUMAN			6	1586	-			354			NACHT.		B4DTU3|Q549U4|Q8IWF5	Missense_Mutation	SNP	ENST00000222823.4	37	c.1061C>T	CCDS5427.1	.	.	.	.	.	.	.	.	.	.	G	17.42	3.386377	0.61956	.	.	ENSG00000106100	ENST00000222823	T	0.78481	-1.18	5.71	4.82	0.62117	NACHT nucleoside triphosphatase (1);	0.204673	0.52532	D	0.000079	T	0.77458	0.4133	L	0.61387	1.9	0.80722	D	1	P	0.39717	0.684	B	0.43413	0.419	T	0.77851	-0.2434	10	0.52906	T	0.07	.	11.2353	0.48936	0.0:0.2549:0.6133:0.1318	.	354	Q9Y239	NOD1_HUMAN	L	354	ENSP00000222823:P354L	ENSP00000222823:P354L	P	-	2	0	NOD1	30458497	1.000000	0.71417	0.609000	0.28983	0.849000	0.48306	3.628000	0.54259	1.383000	0.46405	0.563000	0.77884	CCC		0.677	NOD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250443.2			8	27	0	0	0	1	0	8	27					A	30491972	G	A	30491972	3	1	291	1	0	0	0	0	1	0	0	0	10516	1232	43	3	1836	3	NOD1	7	30491972	Missense_Mutation	SNP	G	TCGA-J9-A8CM-01A-11D-A34U-08		30491972	128646691	34	14039											
POU6F2	11281	broad.mit.edu	37	chr7	39500237	39500237	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaatccggcgcctgtccctTggcctgacccagactcaggt	8	8	10	15	2	1	2	1	1	0	1	3	2	3	2	5	3	0	0	5	3	2	1			TCGA-J9-A8CM-01A-11D-A34U-08	TCGA-J9-A8CM-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a01318-edcd-41e8-8be5-95fbc01e1e7e	b7b750a0-fdaa-42a2-b583-989423ec1b45	g.chr7:39500237T>A	ENST00000403058.1	+	10	1648	c.1494T>A	c.(1492-1494)ctT>ctA	p.L498L	POU6F2_ENST00000518318.2_Silent_p.L498L|POU6F2_ENST00000559001.1_Silent_p.L443L	NM_001166018.1|NM_007252.3	NP_001159490.1|NP_009183.3	P78424	PO6F2_HUMAN	POU class 6 homeobox 2	498	POU-specific. {ECO:0000255|PROSITE- ProRule:PRU00530}.				central nervous system development (GO:0007417)|ganglion mother cell fate determination (GO:0007402)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)|visual perception (GO:0007601)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	42						GCCTGTCCCTTGGCCTGACCC	0.592																																						ENST00000518318.2																			0				NS(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	42						c.(1492-1494)ctT>ctA		POU class 6 homeobox 2							39	35	36					7																	39500237		2203	4300	6503	SO:0001819	synonymous_variant	11281				central nervous system development|ganglion mother cell fate determination|transcription from RNA polymerase II promoter|visual perception		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:39500237T>A	U91934	CCDS34620.2, CCDS55103.1	7p14.1	2011-06-20	2007-07-13		ENSG00000106536	ENSG00000106536		"Homeoboxes / POU class"	21694	protein-coding gene	gene with protein product	"Retina-derived POU-domain factor-1"	609062	"POU domain, class 6, transcription factor 2"			8601806	Standard	NM_007252		Approved	RPF-1	uc003thb.2	P78424	OTTHUMG00000150803	ENST00000403058.1:c.1494T>A	7.37:g.39500237T>A						POU6F2_ENST00000559001.1_Silent_p.L443L|POU6F2_ENST00000403058.1_Silent_p.L498L	p.L498L			P78424	PO6F2_HUMAN			9	1536	+			498			POU-specific.		A4D1W2|C4AMB9|P78425|Q75ME8|Q86UM6|Q9UDS7	Silent	SNP	ENST00000403058.1	37	c.1494T>A	CCDS34620.2																																																																																				0.592	POU6F2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000320146.3	NM_007252		4	6	0	0	0	1	0	4	6					A	39500237	T	A	39500237	2	1	291	1	0	0	0	0	0	0	0	1	12285	1799	63	5		5	POU6F2	7	39500237	Silent	SNP	T	TCGA-J9-A8CM-01A-11D-A34U-08	9008265	39500237	119638426	35	14040											
NPTX2	4885	broad.mit.edu	37	chr7	98256572	98256572	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgtgggaggcattccaggaCggagagaagctgggcactgg	10	6	18	7	1	0	1	0	0	0	1	1	5	1	4	1	6	1	3	1	6	1	1			TCGA-J9-A8CM-01A-11D-A34U-08	TCGA-J9-A8CM-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a01318-edcd-41e8-8be5-95fbc01e1e7e	b7b750a0-fdaa-42a2-b583-989423ec1b45	g.chr7:98256572C>T	ENST00000265634.3	+	4	1149	c.984C>T	c.(982-984)gaC>gaT	p.D328D		NM_002523.2	NP_002514.1	P47972	NPTX2_HUMAN	neuronal pentraxin II	328	Pentaxin.				synaptic transmission (GO:0007268)	extracellular region (GO:0005576)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)	p.D328D(1)		breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	18	all_cancers(62;2.28e-09)|all_epithelial(64;4.86e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0128)|all_lung(186;0.0142)		STAD - Stomach adenocarcinoma(171;0.215)			CATTCCAGGACGGAGAGAAGC	0.642																																						ENST00000265634.3																			1	Substitution - coding silent(1)	p.D328D(1)	prostate(1)	breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	18						c.(982-984)gaC>gaT		neuronal pentraxin II							99	81	87					7																	98256572		2203	4300	6503	SO:0001819	synonymous_variant	4885				synaptic transmission	extracellular region	metal ion binding|sugar binding	g.chr7:98256572C>T		CCDS5657.1	7q21.3-q22.1	2008-04-30			ENSG00000106236	ENSG00000106236			7953	protein-coding gene	gene with protein product	"apexin"	600750				8530029	Standard	NM_002523		Approved		uc003upl.2	P47972	OTTHUMG00000154369	ENST00000265634.3:c.984C>T	7.37:g.98256572C>T							p.D328D	NM_002523.2	NP_002514.1	P47972	NPTX2_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)		4	1149	+	all_cancers(62;2.28e-09)|all_epithelial(64;4.86e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0128)|all_lung(186;0.0142)		328			Pentaxin.		A4D267|Q86XV7|Q96G70	Silent	SNP	ENST00000265634.3	37	c.984C>T	CCDS5657.1																																																																																				0.642	NPTX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334982.1	NM_002523		5	37	0	0	0	1	0	5	37					T	98256572	C	T	98256572	2	4	291	1	0	0	0	0	0	0	0	1	10603	535	19	1		1	NPTX2	7	98256572	Silent	SNP	C	TCGA-J9-A8CM-01A-11D-A34U-08	58756335	98256572	60882091	36	14041											
TAF6	6878	broad.mit.edu	37	chr7	99704994	99704994	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	aagggcactgccgctgagtgGggacggggacgatgccgggg	7	4	21	9	4	0	1	0	1	0	0	0	4	0	3	2	7	2	2	2	7	1	0			TCGA-J9-A8CM-01A-11D-A34U-08	TCGA-J9-A8CM-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a01318-edcd-41e8-8be5-95fbc01e1e7e	b7b750a0-fdaa-42a2-b583-989423ec1b45	g.chr7:99704994G>T	ENST00000344095.4	-	15	2434	c.1909C>A	c.(1909-1911)Cca>Aca	p.P637T	TAF6_ENST00000453269.2_Missense_Mutation_p.P637T|TAF6_ENST00000452041.1_Missense_Mutation_p.P637T|TAF6_ENST00000437822.2_Missense_Mutation_p.P674T|AP4M1_ENST00000421755.1_Intron|TAF6_ENST00000418432.2_Missense_Mutation_p.P561T|TAF6_ENST00000472509.1_Missense_Mutation_p.P694T	NM_005641.3	NP_005632.1	P49848	TAF6_HUMAN	TAF6 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 80kDa	637					DNA-templated transcription, initiation (GO:0006352)|gene expression (GO:0010467)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell proliferation (GO:0008285)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|regulation of transcription, DNA-templated (GO:0006355)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	cytoplasm (GO:0005737)|MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)|transcription factor TFTC complex (GO:0033276)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(2)	26	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CCGCTGAGTGGGGACGGGGAC	0.647																																						ENST00000344095.4																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(2)	26						c.(1909-1911)Cca>Aca		TAF6 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 80kDa							42	49	46					7																	99704994		2203	4300	6503	SO:0001583	missense	6878				negative regulation of cell cycle|negative regulation of cell proliferation|regulation of sequence-specific DNA binding transcription factor activity|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cytoplasm|MLL1 complex|transcription factor TFIID complex|transcription factor TFTC complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr7:99704994G>T		CCDS5686.1, CCDS55135.1	7q	2010-02-26	2002-08-29	2001-12-07	ENSG00000106290	ENSG00000106290			11540	protein-coding gene	gene with protein product	"TAF6 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 80 kD", "transcription initiation factor TFIID 70 kD subunit"	602955	"TATA box binding protein (TBP)-associated factor, RNA polymerase II, E, 70/85kD"	TAF2E		826207	Standard	NM_139315		Approved	TAFII70, TAFII80, MGC:8964, TAFII85	uc011kji.2	P49848	OTTHUMG00000154771	ENST00000344095.4:c.1909C>A	7.37:g.99704994G>T	ENSP00000344537:p.Pro637Thr					TAF6_ENST00000452041.1_Missense_Mutation_p.P637T|TAF6_ENST00000437822.2_Missense_Mutation_p.P674T|TAF6_ENST00000418432.2_Missense_Mutation_p.P561T|TAF6_ENST00000453269.2_Missense_Mutation_p.P637T|AP4M1_ENST00000421755.1_Intron|TAF6_ENST00000472509.1_Missense_Mutation_p.P694T	p.P637T	NM_005641.3	NP_005632.1	P49848	TAF6_HUMAN			15	2434	-	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		637					A4D2B2|A4D2B3|B4DT11|D6W5U2|Q6AI29	Missense_Mutation	SNP	ENST00000344095.4	37	c.1909C>A	CCDS5686.1	.	.	.	.	.	.	.	.	.	.	G	11.54	1.669652	0.29693	.	.	ENSG00000106290	ENST00000453269;ENST00000472509;ENST00000452041;ENST00000344095;ENST00000418432;ENST00000437822	T;T;T;T;T	0.48522	0.89;0.81;0.89;0.89;0.84	5.52	4.65	0.58169	.	0.288959	0.28821	N	0.014028	T	0.26304	0.0642	N	0.08118	0	0.09310	N	1	B;B;B;B;B	0.26635	0.155;0.097;0.059;0.059;0.155	B;B;B;B;B	0.29598	0.048;0.104;0.048;0.029;0.048	T	0.18116	-1.0347	10	0.17369	T	0.5	-14.8452	10.3105	0.43706	0.0883:0.0:0.9117:0.0	.	674;627;627;637;561	B4DT11;P49848-2;A4D299;P49848;B3KUR4	.;.;.;TAF6_HUMAN;.	T	637;694;637;637;561;674	ENSP00000389575:P637T;ENSP00000419760:P694T;ENSP00000416396:P637T;ENSP00000344537:P637T;ENSP00000399982:P674T	ENSP00000344537:P637T	P	-	1	0	TAF6	99542930	0.978000	0.34361	0.033000	0.17914	0.004000	0.04260	2.549000	0.45803	1.569000	0.49696	0.643000	0.83706	CCA		0.647	TAF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337024.2	NM_005641		24	50	1	0	1.22574e-08	1	1.43003e-08	24	50					T	99704994	G	T	99704994	3	4	291	1	0	0	0	0	1	0	0	0	15527	1232	43	5	128	5	TAF6	7	99704994	Missense_Mutation	SNP	G	TCGA-J9-A8CM-01A-11D-A34U-08	1448422	99704994	59433669	37	14042											
LMOD2	442721	broad.mit.edu	37	chr7	123296111	123296111	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	tgtcagccgaggagctgaagGagctagagagagagttggaa	13	6	17	5	1	1	3	1	1	0	2	1	9	1	6	1	3	3	3	1	3	3	2			TCGA-J9-A8CM-01A-11D-A34U-08	TCGA-J9-A8CM-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a01318-edcd-41e8-8be5-95fbc01e1e7e	b7b750a0-fdaa-42a2-b583-989423ec1b45	g.chr7:123296111G>C	ENST00000458573.2	+	1	251	c.94G>C	c.(94-96)Gag>Cag	p.E32Q	LMOD2_ENST00000456238.2_Missense_Mutation_p.E32Q	NM_207163.1	NP_997046.1	Q6P5Q4	LMOD2_HUMAN	leiomodin 2 (cardiac)	32	Glu-rich.|Tropomyosin-binding. {ECO:0000250}.					cytoskeleton (GO:0005856)											GGAGCTGAAGGAGCTAGAGAG	0.537																																						ENST00000458573.2																			0											c.(94-96)Gag>Cag		leiomodin 2 (cardiac)							50	53	52					7																	123296111		1950	4148	6098	SO:0001583	missense	442721					cytoskeleton	actin binding|tropomyosin binding	g.chr7:123296111G>C	AC006333	CCDS47693.1	7q31.32	2008-08-08			ENSG00000170807	ENSG00000170807			6648	protein-coding gene	gene with protein product		608006					Standard	NM_207163		Approved		uc003vky.2	Q6P5Q4	OTTHUMG00000157149	ENST00000458573.2:c.94G>C	7.37:g.123296111G>C	ENSP00000411932:p.Glu32Gln					LMOD2_ENST00000456238.2_Missense_Mutation_p.E32Q	p.E32Q	NM_207163.1	NP_997046.1	Q6P5Q4	LMOD2_HUMAN			1	251	+			32			Glu-rich.|Tropomyosin-binding (By similarity).		A4D0W9|A4D0Y2|Q8WVJ8	Missense_Mutation	SNP	ENST00000458573.2	37	c.94G>C	CCDS47693.1	.	.	.	.	.	.	.	.	.	.	G	32	5.109446	0.94292	.	.	ENSG00000170807	ENST00000458573;ENST00000444702;ENST00000332074;ENST00000456238	T;T	0.25912	1.77;1.77	5.77	5.77	0.91146	.	0.000000	0.37136	N	0.002237	T	0.39517	0.1081	N	0.26042	0.785	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	T	0.05162	-1.0902	10	0.20046	T	0.44	-14.3688	19.9983	0.97395	0.0:0.0:1.0:0.0	.	32	Q6P5Q4	LMOD2_HUMAN	Q	32	ENSP00000411932:E32Q;ENSP00000398975:E32Q	ENSP00000405123:E32Q	E	+	1	0	LMOD2	123083347	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	9.869000	0.99810	2.724000	0.93272	0.561000	0.74099	GAG		0.537	LMOD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348525.1			9	6	0	0	0	1	0	9	6					C	123296111	G	C	123296111	3	2	291	1	0	0	0	0	1	0	0	0	8857	1175	41	5	96	5	LMOD2	7	123296111	Missense_Mutation	SNP	G	TCGA-J9-A8CM-01A-11D-A34U-08	23591117	123296111	35842552	38	14043											
CDK5	1020	broad.mit.edu	37	chr7	150754243	150754243	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gccttgaacacagttccgtaGgtgcctaggggaaggaggtc	9	8	15	9	1	0	1	0	1	0	0	2	3	1	3	3	5	2	2	3	5	4	4			TCGA-J9-A8CM-01A-11D-A34U-08	TCGA-J9-A8CM-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a01318-edcd-41e8-8be5-95fbc01e1e7e	b7b750a0-fdaa-42a2-b583-989423ec1b45	g.chr7:150754243G>C	ENST00000485972.1	-	2	723	c.42C>G	c.(40-42)acC>acG	p.T14T	SLC4A2_ENST00000485713.1_5'Flank|CDK5_ENST00000297518.4_Silent_p.T14T|SLC4A2_ENST00000413384.2_5'Flank	NM_004935.3	NP_004926.1	Q00535	CDK5_HUMAN	cyclin-dependent kinase 5	14	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon extension (GO:0048675)|axon guidance (GO:0007411)|behavioral response to cocaine (GO:0048148)|blood coagulation (GO:0007596)|calcium ion import (GO:0070509)|cell cycle (GO:0007049)|cell division (GO:0051301)|cell proliferation (GO:0008283)|cell-matrix adhesion (GO:0007160)|central nervous system neuron development (GO:0021954)|cerebellar cortex formation (GO:0021697)|corpus callosum development (GO:0022038)|cortical actin cytoskeleton organization (GO:0030866)|dendrite morphogenesis (GO:0048813)|embryo development (GO:0009790)|hippocampus development (GO:0021766)|intracellular protein transport (GO:0006886)|layer formation in cerebral cortex (GO:0021819)|motor neuron axon guidance (GO:0008045)|negative regulation of axon extension (GO:0030517)|negative regulation of cell cycle (GO:0045786)|negative regulation of neuron death (GO:1901215)|negative regulation of protein export from nucleus (GO:0046826)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of proteolysis (GO:0045861)|negative regulation of synaptic plasticity (GO:0031914)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron apoptotic process (GO:0051402)|neuron differentiation (GO:0030182)|neuron migration (GO:0001764)|neuron projection development (GO:0031175)|nucleocytoplasmic transport (GO:0006913)|oligodendrocyte differentiation (GO:0048709)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|phosphorylation (GO:0016310)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of calcium ion-dependent exocytosis (GO:0045956)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of protein binding (GO:0032092)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein targeting to membrane (GO:0090314)|protein autophosphorylation (GO:0046777)|protein localization to synapse (GO:0035418)|receptor catabolic process (GO:0032801)|receptor clustering (GO:0043113)|regulated secretory pathway (GO:0045055)|regulation of apoptotic process (GO:0042981)|regulation of cell cycle arrest (GO:0071156)|regulation of cell migration (GO:0030334)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of synaptic plasticity (GO:0048167)|rhythmic process (GO:0048511)|Schwann cell development (GO:0014044)|sensory perception of pain (GO:0019233)|serine phosphorylation of STAT3 protein (GO:0033136)|skeletal muscle tissue development (GO:0007519)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic transmission, dopaminergic (GO:0001963)|synaptic transmission, glutamatergic (GO:0035249)|synaptic vesicle endocytosis (GO:0048488)|synaptic vesicle exocytosis (GO:0016079)|visual learning (GO:0008542)	axon (GO:0030424)|cell junction (GO:0030054)|cyclin-dependent protein kinase 5 holoenzyme complex (GO:0016533)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|filopodium (GO:0030175)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|membrane (GO:0016020)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	acetylcholine receptor activator activity (GO:0030549)|ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|ErbB-2 class receptor binding (GO:0005176)|ErbB-3 class receptor binding (GO:0043125)|kinase activity (GO:0016301)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|tau-protein kinase activity (GO:0050321)			central_nervous_system(1)|endometrium(2)|lung(5)|urinary_tract(1)	9		Breast(660;0.159)|Ovarian(593;0.182)	OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)|LUSC - Lung squamous cell carcinoma(290;0.008)|Lung(243;0.00942)|BRCA - Breast invasive adenocarcinoma(188;0.242)		CAGTTCCGTAGGTGCCTAGGG	0.567																																						ENST00000485972.1																			0				central_nervous_system(1)|endometrium(2)|lung(5)|urinary_tract(1)	9						c.(40-42)acC>acG		cyclin-dependent kinase 5							198	197	197					7																	150754243		2048	4216	6264	SO:0001819	synonymous_variant	1020				activation of pro-apoptotic gene products|blood coagulation|cell division|cell proliferation|embryo development|negative regulation of transcription, DNA-dependent|positive regulation of neuron apoptosis	axon|cytosol|dendrite|growth cone|lamellipodium|membrane|neuromuscular junction|neuronal cell body	acetylcholine receptor activator activity|ATP binding|cyclin-dependent protein kinase activity|ErbB-2 class receptor binding|ErbB-3 class receptor binding|tau-protein kinase activity	g.chr7:150754243G>C	X66364	CCDS47748.1, CCDS55184.1	7q36	2011-11-08			ENSG00000164885	ENSG00000164885		"Cyclin-dependent kinases"	1774	protein-coding gene	gene with protein product		123831				8275715, 1639063	Standard	NM_001164410		Approved	PSSALRE	uc003wir.2	Q00535	OTTHUMG00000158414	ENST00000485972.1:c.42C>G	7.37:g.150754243G>C						CDK5_ENST00000297518.4_Silent_p.T14T	p.T14T	NM_004935.3	NP_004926.1	Q00535	CDK5_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)|LUSC - Lung squamous cell carcinoma(290;0.008)|Lung(243;0.00942)|BRCA - Breast invasive adenocarcinoma(188;0.242)	2	723	-		Breast(660;0.159)|Ovarian(593;0.182)	14			Protein kinase.		A1XKG3	Silent	SNP	ENST00000485972.1	37	c.42C>G	CCDS47748.1																																																																																				0.567	CDK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350965.3			33	69	0	0	0	1	0	33	69					C	150754243	G	C	150754243	2	2	291	1	0	0	0	0	0	0	0	1	3142	987	35	5		5	CDK5	7	150754243	Silent	SNP	G	TCGA-J9-A8CM-01A-11D-A34U-08	27458132	150754243	8384420	39	14044											
PLAG1	5324	broad.mit.edu	37	chr8	57079728	57079728	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atcctttcgggtgtagaaccGgcgatcacaatgttcgcact	9	11	10	11	4	1	1	1	0	0	1	4	2	2	1	2	2	1	3	2	2	3	3			TCGA-J9-A8CM-01A-11D-A34U-08	TCGA-J9-A8CM-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a01318-edcd-41e8-8be5-95fbc01e1e7e	b7b750a0-fdaa-42a2-b583-989423ec1b45	g.chr8:57079728G>A	ENST00000316981.3	-	5	1056	c.577C>T	c.(577-579)Cgg>Tgg	p.R193W	PLAG1_ENST00000429357.2_Missense_Mutation_p.R193W|PLAG1_ENST00000423799.2_Missense_Mutation_p.R111W	NM_001114634.1|NM_002655.2	NP_001108106.1|NP_002646.2	Q6DJT9	PLAG1_HUMAN	pleiomorphic adenoma gene 1	193	Decreased nuclear import with localization in the nucleus but also in the cytoplasm.				gland morphogenesis (GO:0022612)|multicellular organism growth (GO:0035264)|negative regulation of gene expression (GO:0010629)|organ growth (GO:0035265)|positive regulation of glial cell proliferation (GO:0060252)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prostate gland growth (GO:0060736)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)		CTNNB1/PLAG1(60)|LIFR_ENST00000263409/PLAG1(10)|HAS2/PLAG1(10)|FGFR1_ENST00000447712/PLAG1(28)|COL1A2/PLAG1(3)|CHCHD7/PLAG1(12)|TCEA1_ENST00000521604/PLAG1(3)	breast(3)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(7)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28		all_lung(136;0.0548)|Lung NSC(129;0.0718)|all_epithelial(80;0.125)	Epithelial(17;0.00179)|all cancers(17;0.0125)			GTGTAGAACCGGCGATCACAA	0.502			T	"TCEA1, LIFR, CTNNB1, CHCHD7"	salivary adenoma																																	ENST00000316981.3				Dom	yes		8	8q12	5324	T	pleiomorphic adenoma gene 1			E	"TCEA1, LIFR, CTNNB1, CHCHD7"		salivary adenoma	CTNNB1/PLAG1(60)|LIFR_ENST00000263409/PLAG1(10)|HAS2/PLAG1(10)|FGFR1_ENST00000447712/PLAG1(28)|COL1A2/PLAG1(3)|CHCHD7/PLAG1(12)|TCEA1_ENST00000521604/PLAG1(3)	0				breast(3)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(7)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28						c.(577-579)Cgg>Tgg		pleiomorphic adenoma gene 1							73	71	72					8																	57079728		2203	4300	6503	SO:0001583	missense	5324					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:57079728G>A	U65002	CCDS6165.1, CCDS47860.1	8q12	2010-07-30				ENSG00000181690		"Zinc fingers, C2H2-type"	9045	protein-coding gene	gene with protein product		603026				9268638	Standard	NM_002655		Approved	ZNF912	uc010lyi.3	Q6DJT9		ENST00000316981.3:c.577C>T	8.37:g.57079728G>A	ENSP00000325546:p.Arg193Trp					PLAG1_ENST00000429357.2_Missense_Mutation_p.R193W|PLAG1_ENST00000423799.2_Missense_Mutation_p.R111W	p.R193W	NM_001114634.1|NM_002655.2	NP_001108106.1|NP_002646.2	Q6DJT9	PLAG1_HUMAN	Epithelial(17;0.00179)|all cancers(17;0.0125)		5	1056	-		all_lung(136;0.0548)|Lung NSC(129;0.0718)|all_epithelial(80;0.125)	193			Decreased nuclear import with localization in the nucleus but also in the cytoplasm.		B4DLC2|Q59GH8|Q9Y4L2	Missense_Mutation	SNP	ENST00000316981.3	37	c.577C>T	CCDS6165.1	.	.	.	.	.	.	.	.	.	.	G	15.63	2.891765	0.52014	.	.	ENSG00000181690	ENST00000316981;ENST00000423799;ENST00000429357	T;T;T	0.19938	2.11;2.11;2.11	5.55	2.44	0.29823	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.054022	0.64402	D	0.000001	T	0.37183	0.0994	L	0.42686	1.345	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.03423	-1.1038	10	0.56958	D	0.05	-20.2651	14.3515	0.66705	0.0:0.0:0.528:0.472	.	193	Q6DJT9	PLAG1_HUMAN	W	193;111;193	ENSP00000325546:R193W;ENSP00000404067:R111W;ENSP00000416537:R193W	ENSP00000325546:R193W	R	-	1	2	PLAG1	57242282	1.000000	0.71417	0.997000	0.53966	0.997000	0.91878	5.602000	0.67612	0.140000	0.18849	0.585000	0.79938	CGG		0.502	PLAG1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378212.1	NM_002655		4	47	0	0	0	1	0	4	47					A	57079728	G	A	57079728	3	1	291	1	0	0	0	0	1	0	0	0	12018	1115	39	2	929	2	PLAG1	8	57079728	Missense_Mutation	SNP	G	TCGA-J9-A8CM-01A-11D-A34U-08		57079728	89284294	40	14045											
FREM1	158326	broad.mit.edu	37	chr9	14846021	14846021	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tagccggacagcaccaatgtCgtcattgtcgacaacctgaa	12	8	9	12	3	1	1	1	1	0	0	3	3	1	2	3	1	3	1	3	1	4	2			TCGA-J9-A8CM-01A-11D-A34U-08	TCGA-J9-A8CM-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a01318-edcd-41e8-8be5-95fbc01e1e7e	b7b750a0-fdaa-42a2-b583-989423ec1b45	g.chr9:14846021C>T	ENST00000380880.3	-	8	2113	c.1330G>A	c.(1330-1332)Gac>Aac	p.D444N	FREM1_ENST00000380881.4_Missense_Mutation_p.D445N|FREM1_ENST00000422223.2_Missense_Mutation_p.D444N			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	444					cell communication (GO:0007154)|cell-matrix adhesion (GO:0007160)|craniofacial suture morphogenesis (GO:0097094)	basement membrane (GO:0005604)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)	p.D445N(1)		breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		GCACCAATGTCGTCATTGTCG	0.493																																						ENST00000380881.4																			1	Substitution - Missense(1)	p.D445N(1)	endometrium(1)	breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100						c.(1333-1335)Gac>Aac		FRAS1 related extracellular matrix 1							62	66	65					9																	14846021		2096	4234	6330	SO:0001583	missense	158326				cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding	g.chr9:14846021C>T	AK058190	CCDS47952.1, CCDS55293.1	9p22.3	2010-06-04	2004-12-15	2004-12-15	ENSG00000164946	ENSG00000164946			23399	protein-coding gene	gene with protein product		608944	"chromosome 9 open reading frame 154"	C9orf154		12838346, 15345741	Standard	NM_144966		Approved	FLJ25461, C9orf145, C9orf143, DKFZp686M16108, TILRR	uc003zlm.3	Q5H8C1	OTTHUMG00000019575	ENST00000380880.3:c.1330G>A	9.37:g.14846021C>T	ENSP00000370262:p.Asp444Asn					FREM1_ENST00000422223.2_Missense_Mutation_p.D444N|FREM1_ENST00000380880.3_Missense_Mutation_p.D444N	p.D445N			Q5H8C1	FREM1_HUMAN		GBM - Glioblastoma multiforme(50;3.53e-06)	9	2148	-			444					B7ZBX4|Q5VV00|Q5VV01|Q6MZI4|Q8NEG9|Q96LI3	Missense_Mutation	SNP	ENST00000380880.3	37	c.1333G>A	CCDS47952.1	.	.	.	.	.	.	.	.	.	.	C	2.785	-0.252540	0.05829	.	.	ENSG00000164946	ENST00000380881;ENST00000422223;ENST00000380880	T;T;T	0.26373	1.74;1.74;1.74	4.91	1.68	0.24146	.	0.366091	0.33916	N	0.004429	T	0.07728	0.0194	N	0.02751	-0.505	0.43061	D	0.994685	B	0.11235	0.004	B	0.04013	0.001	T	0.36744	-0.9735	10	0.02654	T	1	-5.0647	7.6969	0.28600	0.0:0.6311:0.0:0.3689	.	444	Q5H8C1	FREM1_HUMAN	N	445;444;444	ENSP00000370263:D445N;ENSP00000412940:D444N;ENSP00000370262:D444N	ENSP00000370257:D447N	D	-	1	0	FREM1	14836021	0.990000	0.36364	0.997000	0.53966	0.057000	0.15508	0.353000	0.20130	0.099000	0.17552	0.462000	0.41574	GAC		0.493	FREM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000339474.2	NM_144966		8	10	0	0	0	1	0	8	10					T	14846021	C	T	14846021	3	4	291	1	0	0	0	0	1	0	0	0	6044	884	31	2	5379	2	FREM1	9	14846021	Missense_Mutation	SNP	C	TCGA-J9-A8CM-01A-11D-A34U-08		14846021	126367410	41	14046											
MLLT3	4300	broad.mit.edu	37	chr9	20414313	20414313	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgctactgctgctgctactGctgctgctgctgctgctgct	2	14	11	14	0	0	0	0	0	0	0	0	0	0	0	0	0	13	11	0	0	2	2			TCGA-J9-A8CM-01A-11D-A34U-08	TCGA-J9-A8CM-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a01318-edcd-41e8-8be5-95fbc01e1e7e	b7b750a0-fdaa-42a2-b583-989423ec1b45	g.chr9:20414313G>A	ENST00000380338.4	-	5	817	c.531C>T	c.(529-531)agC>agT	p.S177S	MLLT3_ENST00000429426.2_Silent_p.S174S|MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000475957.1_5'UTR	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	177	Poly-Ser.				anterior/posterior pattern specification (GO:0009952)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|regulation of transcription, DNA-templated (GO:0006355)|segment specification (GO:0007379)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)				central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		tgctgctactgctgctgctgc	0.527			T	MLL	ALL																																	ENST00000380338.4				Dom	yes		9	9p22	4300	T	"myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 (AF9)"			L	MLL		ALL		0				central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66						c.(529-531)agC>agT		myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3							22	31	28					9																	20414313		2066	3973	6039	SO:0001819	synonymous_variant	4300				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	g.chr9:20414313G>A	L13744	CCDS6494.1	9p22	2008-02-05	2001-11-28		ENSG00000171843	ENSG00000171843			7136	protein-coding gene	gene with protein product		159558	"myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 3"			8506309, 8414510	Standard	NM_001286691		Approved	AF-9, AF9, YEATS3	uc003zoe.2	P42568	OTTHUMG00000019650	ENST00000380338.4:c.531C>T	9.37:g.20414313G>A						MLLT3_ENST00000429426.2_Silent_p.S174S|MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000475957.1_5'UTR	p.S177S	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN		GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)	5	817	-			177			Poly-Ser.		B1AMQ2|B2R7B3|B7Z755|D3DRJ8|Q8IVB0	Silent	SNP	ENST00000380338.4	37	c.531C>T	CCDS6494.1																																																																																				0.527	MLLT3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051872.1	NM_004529		5	76	0	0	0	1	0	5	76					A	20414313	G	A	20414313	2	1	291	1	0	0	0	0	0	0	0	1	9628	1310	46	3		3	MLLT3	9	20414313	Silent	SNP	G	TCGA-J9-A8CM-01A-11D-A34U-08	5568292	20414313	120799118	42	14047											
DFNB31	25861	broad.mit.edu	37	chr9	117168903	117168904	+	Frame_Shift_Ins	INS	-	-	G																															tcttggagctggggttggcaINSggggagacggaggcatagat																										TCGA-J9-A8CM-01A-11D-A34U-08	TCGA-J9-A8CM-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a01318-edcd-41e8-8be5-95fbc01e1e7e	b7b750a0-fdaa-42a2-b583-989423ec1b45	g.chr9:117168903_117168904insG	ENST00000362057.3	-	9	2135_2136	c.1967_1968insC	c.(1966-1968)cctfs	p.P656fs	DFNB31_ENST00000265134.6_Frame_Shift_Ins_p.P273fs|DFNB31_ENST00000374059.3_Frame_Shift_Ins_p.P305fs	NM_001173425.1|NM_015404.3	NP_001166896.1|NP_056219	Q9P202	WHRN_HUMAN	deafness, autosomal recessive 31	656	Pro-rich.				inner ear receptor stereocilium organization (GO:0060122)|retina homeostasis (GO:0001895)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	actin filament (GO:0005884)|cilium (GO:0005929)|cytoplasm (GO:0005737)|stereocilia ankle link complex (GO:0002142)|stereocilium (GO:0032420)				central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(14)|ovary(5)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						TGGGGTTGGCAGGGGAGACGGA	0.688																																						ENST00000362057.3																			0				central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(14)|ovary(5)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						c.(1966-1968)cgcfs		deafness, autosomal recessive 31																																				SO:0001589	frameshift_variant	25861				inner ear receptor stereocilium organization|retina homeostasis|sensory perception of light stimulus|sensory perception of sound	cytoplasm|growth cone|stereocilium		g.chr9:117168903_117168904insG	AK056190	CCDS6806.1, CCDS43870.1	9q32	2013-06-19			ENSG00000095397	ENSG00000095397			16361	protein-coding gene	gene with protein product	"whirlin"	607928				12833159, 17171570	Standard	NM_015404		Approved	CIP98, WHRN, USH2D, PDZD7B	uc004biz.4	Q9P202	OTTHUMG00000020539	ENST00000362057.3:c.1968dupC	9.37:g.117168907_117168907dupG	ENSP00000354623:p.Pro656fs					DFNB31_ENST00000265134.6_Frame_Shift_Ins_p.R273fs|DFNB31_ENST00000374059.3_Frame_Shift_Ins_p.R305fs	p.R656fs	NM_001173425.1|NM_015404.3	NP_001166896.1|NP_056219.3	Q9P202	WHRN_HUMAN			9	2135_2136	-			656			Pro-rich.		A5PKU1|A5PKZ9|Q5TAU9|Q5TAV0|Q5TAV1|Q5TAV2|Q96MZ9|Q9H9F4|Q9UFZ3	Frame_Shift_Ins	INS	ENST00000362057.3	37	c.1967_1968insC	CCDS6806.1																																																																																				0.688	DFNB31-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053776.2	NM_015404		14	68						14	68	---	---	---	---	G	117168904	-	G	117168903	7	5	291	1	0	1	1	0	0	0	0	0	4455	175	7	0	771	0	DFNB31	9	117168903	Frame_Shift_Ins	INS	-	TCGA-J9-A8CM-01A-11D-A34U-08	96754590	117168903	24044528	43	14048											
NTNG2	84628	broad.mit.edu	37	chr9	135073943	135073943	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ggcggcacctatgtgcagcgGgagaacctctacaagtactt	10	8	12	11	2	1	1	0	0	1	1	1	2	1	1	2	3	5	3	2	3	5	4	rs138616053		TCGA-J9-A8CM-01A-11D-A34U-08	TCGA-J9-A8CM-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a01318-edcd-41e8-8be5-95fbc01e1e7e	b7b750a0-fdaa-42a2-b583-989423ec1b45	g.chr9:135073943G>T	ENST00000393229.3	+	3	1580	c.804G>T	c.(802-804)cgG>cgT	p.R268R	NTNG2_ENST00000393228.4_Silent_p.R268R|NTNG2_ENST00000372179.3_Silent_p.R268R|NTNG2_ENST00000360670.3_Silent_p.R268R	NM_032536.2	NP_115925.2	Q96CW9	NTNG2_HUMAN	netrin G2	268	Laminin N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00466}.				axonogenesis (GO:0007409)	anchored component of plasma membrane (GO:0046658)|axon (GO:0030424)				central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	29				OV - Ovarian serous cystadenocarcinoma(145;1.23e-05)|Epithelial(140;0.000173)		ATGTGCAGCGGGAGAACCTCT	0.637																																						ENST00000393229.3																			0				central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	29						c.(802-804)cgG>cgT		netrin G2							37	42	40					9																	135073943		2201	4300	6501	SO:0001819	synonymous_variant	84628				axonogenesis	anchored to plasma membrane		g.chr9:135073943G>T	AB058760	CCDS6946.1	9q34	2013-03-01	2003-12-02	2003-12-03	ENSG00000196358	ENSG00000196358		"Netrins"	14288	protein-coding gene	gene with protein product	"Netrin-G2"		"netrin G1"	NTNG1			Standard	NM_032536		Approved	KIAA1857, Lmnt2	uc004cbh.2	Q96CW9	OTTHUMG00000020835	ENST00000393229.3:c.804G>T	9.37:g.135073943G>T						NTNG2_ENST00000393228.4_Silent_p.R268R|NTNG2_ENST00000360670.3_Silent_p.R268R|NTNG2_ENST00000372179.3_Silent_p.R268R	p.R268R	NM_032536.2	NP_115925.2	Q96CW9	NTNG2_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.23e-05)|Epithelial(140;0.000173)	3	1580	+			268			Laminin N-terminal.		Q5JUJ2|Q6UXY0|Q96JH0	Silent	SNP	ENST00000393229.3	37	c.804G>T	CCDS6946.1																																																																																				0.637	NTNG2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054779.1	NM_032536		15	27	1	0	6.31663e-08	1	7.28842e-08	15	27					T	135073943	G	T	135073943	2	4	291	1	0	0	0	0	0	0	0	1	10705	1219	43	5		5	NTNG2	9	135073943	Silent	SNP	G	TCGA-J9-A8CM-01A-11D-A34U-08	17905040	135073943	6139488	44	14049											
CUBN	8029	broad.mit.edu	37	chr10	16919012	16919020	+	In_Frame_Del	DEL	GTAGCAAAT	GTAGCAAAT	-																															gcatctcatccccacacacaGtagcaaatggggtggacatg																										TCGA-J9-A8CM-01A-11D-A34U-08	TCGA-J9-A8CM-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a01318-edcd-41e8-8be5-95fbc01e1e7e	b7b750a0-fdaa-42a2-b583-989423ec1b45	g.chr10:16919012_16919020delGTAGCAAAT	ENST00000377833.4	-	57	9047_9055	c.8982_8990delATTTGCTAC	c.(8980-8991)ccatttgctact>cct	p.FAT2995del		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	2995	CUB 22. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cholesterol metabolic process (GO:0008203)|cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|tissue homeostasis (GO:0001894)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|cobalamin binding (GO:0031419)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)|transporter activity (GO:0005215)			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	CCCACACACAGTAGCAAATGGGGTGGACA	0.531																																						ENST00000377833.4																			0				breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241						c.(8980-8991)cct>cc		cubilin (intrinsic factor-cobalamin receptor)	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)																																			SO:0001651	inframe_deletion	8029				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity	g.chr10:16919012_16919020delGTAGCAAAT	AF034611	CCDS7113.1	10p12	2014-09-17			ENSG00000107611	ENSG00000107611			2548	protein-coding gene	gene with protein product		602997		MGA1		9572993, 9478979	Standard	NM_001081		Approved	IFCR, gp280	uc001ioo.3	O60494	OTTHUMG00000017741	ENST00000377833.4:c.8982_8990delATTTGCTAC	10.37:g.16919012_16919020delGTAGCAAAT	ENSP00000367064:p.Phe2995_Thr2997del						p.PFAT2994del	NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN			57	9047_9055	-			2994			CUB 22.		B0YIZ4|Q5VTA6|Q96RU9	In_Frame_Del	DEL	ENST00000377833.4	37	c.8982_8990delATTTGCTAC	CCDS7113.1																																																																																				0.531	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047009.1	NM_001081		15	68						15	68	---	---	---	---	-	16919020	GTAGCAAAT	-	16919012	7	5	291	1	0	1	0	1	0	0	0	0	4051	1029	36	0	1925	0	CUBN	10	16919012	In_Frame_Del	DEL	GTAGCAAAT	TCGA-J9-A8CM-01A-11D-A34U-08		16919012	118615735	45	14050											
ANKRD26	22852	broad.mit.edu	37	chr10	27323868	27323868	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tttttgcacaatagcatgaaActggtcttggatattaatca	13	15	7	6	0	2	1	1	1	1	0	2	2	2	2	0	2	3	2	0	2	5	6			TCGA-J9-A8CM-01A-11D-A34U-08	TCGA-J9-A8CM-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a01318-edcd-41e8-8be5-95fbc01e1e7e	b7b750a0-fdaa-42a2-b583-989423ec1b45	g.chr10:27323868A>C	ENST00000376087.4	-	24	3676	c.3511T>G	c.(3511-3513)Ttt>Gtt	p.F1171V	ANKRD26_ENST00000436985.2_Missense_Mutation_p.F1187V|ANKRD26_ENST00000376070.3_Missense_Mutation_p.F728V	NM_001256053.1|NM_014915.2	NP_001242982.1|NP_055730.2	Q9UPS8	ANR26_HUMAN	ankyrin repeat domain 26	1170					glucose homeostasis (GO:0042593)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of organ growth (GO:0046621)|regulation of fatty acid metabolic process (GO:0019217)|regulation of feeding behavior (GO:0060259)	actin filament (GO:0005884)|centrosome (GO:0005813)				breast(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|urinary_tract(2)	70						ATAGCATGAAACTGGTCTTGG	0.363																																						ENST00000376087.4																			0				breast(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|urinary_tract(2)	70						c.(3511-3513)Ttt>Gtt		ankyrin repeat domain 26							210	197	201					10																	27323868		1889	4115	6004	SO:0001583	missense	22852					centrosome		g.chr10:27323868A>C	AB028997	CCDS41499.1	10p12.1	2014-09-17			ENSG00000107890	ENSG00000107890		"Ankyrin repeat domain containing"	29186	protein-coding gene	gene with protein product		610855	"thrombocytopenia 2 (autosomal dominant)"	THC2		10470851, 21211618	Standard	NM_014915		Approved	KIAA1074	uc009xku.1	Q9UPS8	OTTHUMG00000017851	ENST00000376087.4:c.3511T>G	10.37:g.27323868A>C	ENSP00000365255:p.Phe1171Val					ANKRD26_ENST00000436985.2_Missense_Mutation_p.F1187V|ANKRD26_ENST00000376070.3_Missense_Mutation_p.F728V	p.F1171V	NM_001256053.1|NM_014915.2	NP_001242982.1|NP_055730.2	Q9UPS8	ANR26_HUMAN			24	3676	-			1170					A6NH29|Q2TAZ3|Q6ZR14|Q9H1Q1|Q9NSK9|Q9NTD5|Q9NW69	Missense_Mutation	SNP	ENST00000376087.4	37	c.3511T>G	CCDS41499.1	.	.	.	.	.	.	.	.	.	.	A	9.403	1.078552	0.20227	.	.	ENSG00000107890	ENST00000376070;ENST00000376087;ENST00000436985	T;T;T	0.15017	2.46;2.46;2.46	5.64	1.95	0.26073	.	0.000000	0.56097	D	0.000038	T	0.15219	0.0367	M	0.63169	1.94	0.26828	N	0.968641	B;B;P	0.36599	0.234;0.15;0.56	B;B;B	0.36186	0.067;0.031;0.219	T	0.17349	-1.0372	10	0.62326	D	0.03	.	3.3282	0.07075	0.6444:0.1428:0.0761:0.1367	.	1171;1170;1187	Q9UPS8-3;Q9UPS8;A1L497	.;ANR26_HUMAN;.	V	728;1171;1187	ENSP00000365238:F728V;ENSP00000365255:F1171V;ENSP00000405112:F1187V	ENSP00000365238:F728V	F	-	1	0	ANKRD26	27363874	0.998000	0.40836	0.001000	0.08648	0.324000	0.28378	3.422000	0.52749	0.076000	0.16826	0.482000	0.46254	TTT		0.363	ANKRD26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047296.1			38	87	0	0	0	1	0	38	87					C	27323868	A	C	27323868	3	2	291	1	0	0	0	0	1	0	0	0	654	43	2	5	1665	5	ANKRD26	10	27323868	Missense_Mutation	SNP	A	TCGA-J9-A8CM-01A-11D-A34U-08	10404856	27323868	108210879	46	14051											
PI4K2A	55361	broad.mit.edu	37	chr10	99426205	99426205	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctcttttcagatcctttttaCtgggcctggttgccccaggc	4	15	9	13	0	2	1	1	0	1	1	3	1	3	1	4	3	2	1	4	3	1	6			TCGA-J9-A8CM-01A-11D-A34U-08	TCGA-J9-A8CM-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a01318-edcd-41e8-8be5-95fbc01e1e7e	b7b750a0-fdaa-42a2-b583-989423ec1b45	g.chr10:99426205C>G	ENST00000370631.3	+	7	1152	c.1095C>G	c.(1093-1095)taC>taG	p.Y365*	PI4K2A_ENST00000555577.1_Nonsense_Mutation_p.Y335*|PI4K2A_ENST00000370649.3_Nonsense_Mutation_p.Y335*	NM_018425.2	NP_060895.1	Q9BTU6	P4K2A_HUMAN	phosphatidylinositol 4-kinase type 2 alpha	365	PI3K/PI4K.				basophil degranulation (GO:0002561)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite (GO:0030425)|early endosome membrane (GO:0031901)|endosome (GO:0005768)|exocytic vesicle (GO:0070382)|Golgi apparatus (GO:0005794)|growing cell tip (GO:0035838)|host cell presynaptic membrane (GO:0044231)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|presynaptic membrane (GO:0042734)|protein complex (GO:0043234)|synaptic vesicle membrane (GO:0030672)	1-phosphatidylinositol 4-kinase activity (GO:0004430)|AP-3 adaptor complex binding (GO:0035651)|ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)			endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|skin(1)	12		Colorectal(252;0.162)		Epithelial(162;1.24e-10)|all cancers(201;1.2e-08)		ATCCTTTTTACTGGGCCTGGT	0.473																																						ENST00000370631.3																			0				endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|skin(1)	12						c.(1093-1095)taC>taG		phosphatidylinositol 4-kinase type 2 alpha							76	73	74					10																	99426205		2203	4300	6503	SO:0001587	stop_gained	55361				phosphatidylinositol biosynthetic process	cytoplasm|integral to plasma membrane|membrane raft	1-phosphatidylinositol 4-kinase activity|ATP binding|magnesium ion binding	g.chr10:99426205C>G	AF070611	CCDS7469.1	10q24	2011-02-09			ENSG00000155252	ENSG00000155252			30031	protein-coding gene	gene with protein product		609763				11244087, 11279162	Standard	NM_018425		Approved	PI4KII, DKFZP761G1923, PIK42A	uc001kog.1	Q9BTU6	OTTHUMG00000018863	ENST00000370631.3:c.1095C>G	10.37:g.99426205C>G	ENSP00000359665:p.Tyr365*					PI4K2A_ENST00000555577.1_Nonsense_Mutation_p.Y335*|PI4K2A_ENST00000370649.3_Nonsense_Mutation_p.Y335*	p.Y365*	NM_018425.2	NP_060895.1	Q9BTU6	P4K2A_HUMAN		Epithelial(162;1.24e-10)|all cancers(201;1.2e-08)	7	1152	+		Colorectal(252;0.162)	365			PI3K/PI4K.		D3DR59|Q9NSG8	Nonsense_Mutation	SNP	ENST00000370631.3	37	c.1095C>G	CCDS7469.1	.	.	.	.	.	.	.	.	.	.	C	38	7.180534	0.98118	.	.	ENSG00000155252;ENSG00000155252;ENSG00000249967	ENST00000555577;ENST00000370631;ENST00000370649	.	.	.	5.28	1.89	0.25635	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-4.4394	5.8034	0.18426	0.1498:0.5913:0.0:0.259	.	.	.	.	X	335;365;335	.	ENSP00000359665:Y365X	Y	+	3	2	PI4K2A;RP11-548K23.11	99416195	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	0.858000	0.27845	0.563000	0.29222	0.655000	0.94253	TAC		0.473	PI4K2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049735.1	NM_018425		16	36	0	0	0	1	0	16	36					G	99426205	C	G	99426205	4	3	291	1	0	0	0	0	0	1	0	0	11871	576	20	5	1121	5	PI4K2A	10	99426205	Nonsense_Mutation	SNP	C	TCGA-J9-A8CM-01A-11D-A34U-08	72102337	99426205	36108542	47	14052											
SORCS1	114815	broad.mit.edu	37	chr10	108434806	108434806	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acatcatacttttcaacttaCgtcatgatgagagtctcttc	11	15	5	10	1	4	2	3	2	1	1	6	3	4	2	0	0	3	0	0	0	3	5			TCGA-J9-A8CM-01A-11D-A34U-08	TCGA-J9-A8CM-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a01318-edcd-41e8-8be5-95fbc01e1e7e	b7b750a0-fdaa-42a2-b583-989423ec1b45	g.chr10:108434806C>T	ENST00000263054.6	-	14	1948		c.e14+1		SORCS1_ENST00000344440.6_Splice_Site|SORCS1_ENST00000369698.1_Splice_Site	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN	sortilin-related VPS10 domain containing receptor 1						neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	neuropeptide receptor activity (GO:0008188)			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		TTTCAACTTACGTCATGATGA	0.403																																						ENST00000263054.6																			0				breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127						c.e14+1		sortilin-related VPS10 domain containing receptor 1							122	115	117					10																	108434806		2203	4300	6503	SO:0001630	splice_region_variant	114815					integral to membrane	neuropeptide receptor activity|protein binding	g.chr10:108434806C>T	AF284756	CCDS7559.1	10q23-q25	2004-04-20			ENSG00000108018	ENSG00000108018			16697	protein-coding gene	gene with protein product		606283				11499680	Standard	NM_001206570		Approved	sorCS1	uc001kyl.3	Q8WY21	OTTHUMG00000019018	ENST00000263054.6:c.1940+1G>A	10.37:g.108434806C>T						SORCS1_ENST00000369698.1_Splice_Site|SORCS1_ENST00000344440.6_Splice_Site		NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN		Epithelial(162;1.66e-05)|all cancers(201;0.000689)	14	1948	-		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)						A2RRF4|Q59GG7|Q5JVT7|Q5JVT8|Q5VY14|Q86WQ1|Q86WQ2|Q9H1Y1|Q9H1Y2	Splice_Site	SNP	ENST00000263054.6	37		CCDS7559.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.122685	0.77436	.	.	ENSG00000108018	ENST00000369698;ENST00000263054;ENST00000344440	.	.	.	5.92	5.92	0.95590	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.3206	0.98668	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SORCS1	108424796	1.000000	0.71417	1.000000	0.80357	0.934000	0.57294	7.487000	0.81328	2.809000	0.96659	0.655000	0.94253	.		0.403	SORCS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050232.4	NM_052918	Intron	16	33	0	0	0	1	0	16	33					T	108434806	C	T	108434806	5	4	291	1	0	0	0	0	0	0	1	0	14930	550	19	1	1851	1	SORCS1	10	108434806	Splice_Site	SNP	C	TCGA-J9-A8CM-01A-11D-A34U-08	9008601	108434806	27099941	48	14053											
OR5D13	390142	broad.mit.edu	37	chr11	55541529	55541529	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctatgctttattattgccAtattcaatgaggtgagcagc	10	14	10	7	0	1	2	1	2	0	0	1	2	1	2	1	2	4	3	1	2	5	7	rs375224277		TCGA-J9-A8CM-01A-11D-A34U-08	TCGA-J9-A8CM-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a01318-edcd-41e8-8be5-95fbc01e1e7e	b7b750a0-fdaa-42a2-b583-989423ec1b45	g.chr11:55541529A>G	ENST00000361760.1	+	1	616	c.616A>G	c.(616-618)Ata>Gta	p.I206V		NM_001001967.1	NP_001001967.1	Q8NGL4	OR5DD_HUMAN	olfactory receptor, family 5, subfamily D, member 13	206						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(20)|ovary(1)|pancreas(2)|skin(2)|stomach(1)|urinary_tract(1)	40		all_epithelial(135;0.196)				TATTATTGCCATATTCAATGA	0.388																																						ENST00000361760.1																			0				breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(20)|ovary(1)|pancreas(2)|skin(2)|stomach(1)|urinary_tract(1)	40						c.(616-618)Ata>Gta		olfactory receptor, family 5, subfamily D, member 13		A	VAL/ILE	1,4399	2.1+/-5.4	0,1,2199	134	130	132		616	-5.3	0	11		132	0,8592		0,0,4296	no	missense	OR5D13	NM_001001967.1	29	0,1,6495	GG,GA,AA		0.0,0.0227,0.0077	benign	206/315	55541529	1,12991	2200	4296	6496	SO:0001583	missense	390142				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55541529A>G	BK004394	CCDS31507.1	11q11	2012-08-09			ENSG00000198877	ENSG00000198877		"GPCR / Class A : Olfactory receptors"	15280	protein-coding gene	gene with protein product							Standard	NM_001001967		Approved		uc010ril.2	Q8NGL4	OTTHUMG00000166807	ENST00000361760.1:c.616A>G	11.37:g.55541529A>G	ENSP00000354800:p.Ile206Val						p.I206V	NM_001001967.1	NP_001001967.1	Q8NGL4	OR5DD_HUMAN			1	616	+		all_epithelial(135;0.196)	206					Q6IF68|Q6IFC9	Missense_Mutation	SNP	ENST00000361760.1	37	c.616A>G	CCDS31507.1	.	.	.	.	.	.	.	.	.	.	A	7.074	0.568794	0.13560	2.27E-4	0.0	ENSG00000198877	ENST00000361760	T	0.36340	1.26	3.3	-5.34	0.02705	GPCR, rhodopsin-like superfamily (1);	0.963853	0.08420	N	0.948539	T	0.19087	0.0458	N	0.12471	0.22	0.09310	N	1	B	0.06786	0.001	B	0.15484	0.013	T	0.29912	-0.9996	10	0.59425	D	0.04	-3.8058	9.9747	0.41777	0.5079:0.0:0.4921:0.0	.	206	Q8NGL4	OR5DD_HUMAN	V	206	ENSP00000354800:I206V	ENSP00000354800:I206V	I	+	1	0	OR5D13	55298105	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-2.993000	0.00656	-1.218000	0.02601	-0.617000	0.04050	ATA		0.388	OR5D13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391511.1	NM_001001967		24	66	0	0	0	1	0	24	66					G	55541529	A	G	55541529	3	3	291	1	0	0	0	0	1	0	0	0	11154	217	8	4	618	4	OR5D13	11	55541529	Missense_Mutation	SNP	A	TCGA-J9-A8CM-01A-11D-A34U-08		55541529	79464987	49	14054											
OR5A2	219981	broad.mit.edu	37	chr11	59189575	59189575	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tagatgatgggattcaccacGgggatcaccaaggcatagaa	14	7	12	8	1	2	3	2	1	0	2	2	5	2	5	2	4	0	1	2	4	4	3	rs150394868		TCGA-J9-A8CM-01A-11D-A34U-08	TCGA-J9-A8CM-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a01318-edcd-41e8-8be5-95fbc01e1e7e	b7b750a0-fdaa-42a2-b583-989423ec1b45	g.chr11:59189575G>A	ENST00000302040.4	-	1	874	c.852C>T	c.(850-852)ccC>ccT	p.P284P		NM_001001954.1	NP_001001954.1	Q8NGI9	OR5A2_HUMAN	olfactory receptor, family 5, subfamily A, member 2	284						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.P284P(1)		large_intestine(3)|liver(1)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	21						GATTCACCACGGGGATCACCA	0.473																																						ENST00000302040.4																			1	Substitution - coding silent(1)	p.P284P(1)	lung(1)	large_intestine(3)|liver(1)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	21						c.(850-852)ccC>ccT		olfactory receptor, family 5, subfamily A, member 2							82	78	79					11																	59189575		2201	4295	6496	SO:0001819	synonymous_variant	219981				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:59189575G>A	AB065805	CCDS31560.1	11q12.1	2012-08-09			ENSG00000172324	ENSG00000172324		"GPCR / Class A : Olfactory receptors"	15249	protein-coding gene	gene with protein product							Standard	NM_001001954		Approved		uc010rkt.2	Q8NGI9	OTTHUMG00000167419	ENST00000302040.4:c.852C>T	11.37:g.59189575G>A							p.P284P	NM_001001954.1	NP_001001954.1	Q8NGI9	OR5A2_HUMAN			1	874	-			284					B9EH21|Q6IFF4|Q96RB0	Silent	SNP	ENST00000302040.4	37	c.852C>T	CCDS31560.1																																																																																				0.473	OR5A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394552.1	NM_001001954		14	73	0	0	0	1	0	14	73					A	59189575	G	A	59189575	2	1	291	1	0	0	0	0	0	0	0	1	11140	1103	39	2		2	OR5A2	11	59189575	Silent	SNP	G	TCGA-J9-A8CM-01A-11D-A34U-08	3648046	59189575	75816941	50	14055											
SAPS3	55291	broad.mit.edu	37	chr11	68359047	68359047	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctctcatttttatttagggaAatattgccttgtttgaagca	10	18	7	6	0	1	1	1	1	1	0	2	2	1	2	1	1	2	2	1	1	5	9			TCGA-J9-A8CM-01A-11D-A34U-08	TCGA-J9-A8CM-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a01318-edcd-41e8-8be5-95fbc01e1e7e	b7b750a0-fdaa-42a2-b583-989423ec1b45	g.chr11:68359047A>G	ENST00000393800.2	+	18	2043	c.1789A>G	c.(1789-1791)Aat>Gat	p.N597D	PPP6R3_ENST00000529710.1_Missense_Mutation_p.N517D|PPP6R3_ENST00000524904.1_Missense_Mutation_p.N591D|PPP6R3_ENST00000527403.2_Missense_Mutation_p.N562D|PPP6R3_ENST00000534534.1_Missense_Mutation_p.N365D|PPP6R3_ENST00000265636.5_Missense_Mutation_p.N517D|PPP6R3_ENST00000393799.2_Missense_Mutation_p.N597D|PPP6R3_ENST00000265637.4_Missense_Mutation_p.N551D|PPP6R3_ENST00000524845.1_Missense_Mutation_p.N568D|PPP6R3_ENST00000393801.3_Missense_Mutation_p.N597D	NM_001164161.1|NM_001164162.1|NM_001164163.1	NP_001157633.1|NP_001157634.1|NP_001157635.1	Q5H9R7	PP6R3_HUMAN	protein phosphatase 6, regulatory subunit 3	597					regulation of phosphoprotein phosphatase activity (GO:0043666)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein phosphatase binding (GO:0019903)			breast(2)|endometrium(6)|kidney(3)|large_intestine(10)|liver(2)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						TATTTAGGGAAATATTGCCTT	0.323																																						ENST00000393799.2																			0				breast(2)|endometrium(6)|kidney(3)|large_intestine(10)|liver(2)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						c.(1789-1791)Aat>Gat		protein phosphatase 6, regulatory subunit 3							70	64	66					11																	68359047		2200	4294	6494	SO:0001583	missense	55291				regulation of phosphoprotein phosphatase activity	cytoplasm|nucleus	protein phosphatase binding	g.chr11:68359047A>G	AF264779	CCDS8182.1, CCDS53671.1, CCDS53672.1, CCDS53673.1, CCDS53674.1, CCDS53675.1	11q13	2012-04-17	2010-06-28	2010-06-28	ENSG00000110075	ENSG00000110075		"Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits"	1173	protein-coding gene	gene with protein product	"sporulation-induced transcript 4-associated protein"	610879	"chromosome 11 open reading frame 23", "SAPS domain family, member 3"	C11orf23, SAPS3		11401438, 16769727	Standard	NM_018312		Approved	SAPLa, DKFZp781E2374, DKFZp781O2362, DKFZp781E17107, SAP190, SAPL, PP6R3, FLJ11058, FLJ43065, KIAA1558, MGC125711, MGC125712	uc001onv.3	Q5H9R7		ENST00000393800.2:c.1789A>G	11.37:g.68359047A>G	ENSP00000377389:p.Asn597Asp					PPP6R3_ENST00000393801.3_Missense_Mutation_p.N597D|PPP6R3_ENST00000393800.2_Missense_Mutation_p.N597D|PPP6R3_ENST00000524845.1_Missense_Mutation_p.N568D|PPP6R3_ENST00000265636.5_Missense_Mutation_p.N517D|PPP6R3_ENST00000534534.1_Missense_Mutation_p.N365D|PPP6R3_ENST00000265637.4_Missense_Mutation_p.N551D|PPP6R3_ENST00000527403.2_Missense_Mutation_p.N562D|PPP6R3_ENST00000524904.1_Missense_Mutation_p.N591D|PPP6R3_ENST00000529710.1_Missense_Mutation_p.N517D	p.N597D			Q5H9R7	PP6R3_HUMAN			18	2056	+			597					Q3B7I1|Q3I4Y0|Q3KR35|Q68CR3|Q7L4R8|Q8N3B2|Q96MB2|Q9H2K5|Q9H2K6|Q9HCL4|Q9NUY3	Missense_Mutation	SNP	ENST00000393800.2	37	c.1789A>G	CCDS53672.1	.	.	.	.	.	.	.	.	.	.	A	26.7	4.763387	0.89932	.	.	ENSG00000110075	ENST00000393799;ENST00000393800;ENST00000534534;ENST00000524845;ENST00000265637;ENST00000524904;ENST00000393801;ENST00000265636;ENST00000529710;ENST00000527403;ENST00000534190	T;T;T;T;T;T;T;T;T;T;T	0.33654	1.6;1.59;1.53;1.47;1.4;1.58;1.59;1.49;1.5;1.43;1.51	5.43	5.43	0.79202	.	0.000000	0.85682	D	0.000000	T	0.57257	0.2041	M	0.68317	2.08	0.80722	D	1	D;D;D;D;D;D;D;D	0.89917	1.0;0.993;0.995;0.995;0.997;0.996;0.999;1.0	D;D;D;D;D;D;D;D	0.85130	0.997;0.978;0.969;0.969;0.979;0.954;0.997;0.979	T	0.53129	-0.8482	10	0.25106	T	0.35	.	15.7731	0.78187	1.0:0.0:0.0:0.0	.	280;365;517;568;591;597;597;517	B4DYU6;E9PQP7;Q5H9R7-3;Q5H9R7-6;Q5H9R7-2;Q5H9R7;Q5H9R7-5;Q5H9R7-4	.;.;.;.;.;PP6R3_HUMAN;.;.	D	597;597;365;568;551;591;597;517;517;562;304	ENSP00000377388:N597D;ENSP00000377389:N597D;ENSP00000434429:N365D;ENSP00000431415:N568D;ENSP00000265637:N551D;ENSP00000433058:N591D;ENSP00000377390:N597D;ENSP00000265636:N517D;ENSP00000437329:N517D;ENSP00000433565:N562D;ENSP00000436209:N304D	ENSP00000265636:N517D	N	+	1	0	PPP6R3	68115623	1.000000	0.71417	0.984000	0.44739	0.936000	0.57629	7.394000	0.79862	2.183000	0.69458	0.528000	0.53228	AAT		0.323	PPP6R3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395275.1	NM_018312		4	30	0	0	0	1	0	4	30					G	68359047	A	G	68359047	3	3	291	1	0	0	0	0	1	0	0	0	13838	14	1	4	1851	4	SAPS3	11	68359047	Missense_Mutation	SNP	A	TCGA-J9-A8CM-01A-11D-A34U-08	9169472	68359047	66647469	51	14056											
CCDC81	60494	broad.mit.edu	37	chr11	86131085	86131085	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	agcgagacctggaggacaagGcttttgaacggtaatgcctg	11	8	14	8	2	0	2	0	1	0	1	0	5	0	4	2	4	3	2	2	4	3	3	rs144706705		TCGA-J9-A8CM-01A-11D-A34U-08	TCGA-J9-A8CM-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a01318-edcd-41e8-8be5-95fbc01e1e7e	b7b750a0-fdaa-42a2-b583-989423ec1b45	g.chr11:86131085G>A	ENST00000445632.2	+	14	2079	c.1807G>A	c.(1807-1809)Gct>Act	p.A603T	CCDC81_ENST00000278487.3_Missense_Mutation_p.A338T|CCDC81_ENST00000528728.1_Missense_Mutation_p.A338T|CCDC81_ENST00000354755.1_Missense_Mutation_p.A513T	NM_001156474.1	NP_001149946.1	Q6ZN84	CCD81_HUMAN	coiled-coil domain containing 81	603										kidney(3)|large_intestine(8)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	20		Acute lymphoblastic leukemia(157;5.51e-06)|all_hematologic(158;0.00535)				GGAGGACAAGGCTTTTGAACG	0.507																																						ENST00000278487.3																			0				kidney(3)|large_intestine(8)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	20						c.(1012-1014)Gct>Act		coiled-coil domain containing 81		G	THR/ALA,THR/ALA	0,4404		0,0,2202	132	109	117		1807,1537	3.6	1	11	dbSNP_134	117	1,8597	1.2+/-3.3	0,1,4298	no	missense,missense	CCDC81	NM_001156474.1,NM_021827.4	58,58	0,1,6500	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging	603/653,513/563	86131085	1,13001	2202	4299	6501	SO:0001583	missense	60494							g.chr11:86131085G>A	AK131331	CCDS8276.1, CCDS53691.1	11q14.2	2006-03-09			ENSG00000149201	ENSG00000149201			26281	protein-coding gene	gene with protein product							Standard	NM_001156474		Approved	FLJ16339, FLJ23514	uc001pbx.2	Q6ZN84	OTTHUMG00000167213	ENST00000445632.2:c.1807G>A	11.37:g.86131085G>A	ENSP00000415528:p.Ala603Thr					CCDC81_ENST00000445632.2_Missense_Mutation_p.A603T|CCDC81_ENST00000528728.1_Missense_Mutation_p.A338T|CCDC81_ENST00000354755.1_Missense_Mutation_p.A513T	p.A338T			Q6ZN84	CCD81_HUMAN			13	2091	+		Acute lymphoblastic leukemia(157;5.51e-06)|all_hematologic(158;0.00535)	603					A0AVL7|Q53FW3|Q9H5E5	Missense_Mutation	SNP	ENST00000445632.2	37	c.1012G>A	CCDS53691.1	.	.	.	.	.	.	.	.	.	.	G	12.72	2.021813	0.35701	0.0	1.16E-4	ENSG00000149201	ENST00000354755;ENST00000278487;ENST00000445632;ENST00000528728	T;T;T;T	0.30182	1.54;1.54;1.54;1.54	5.82	3.62	0.41486	.	0.666354	0.15278	N	0.270845	T	0.33990	0.0882	M	0.70595	2.14	0.25430	N	0.988199	P;P;P	0.46142	0.873;0.804;0.573	P;B;B	0.44811	0.461;0.311;0.294	T	0.25012	-1.0144	9	.	.	.	-2.1543	5.8925	0.18921	0.1548:0.0:0.6713:0.1739	.	338;603;513	Q6ZN84-3;Q6ZN84;Q6ZN84-2	.;CCD81_HUMAN;.	T	513;338;603;338	ENSP00000346800:A513T;ENSP00000278487:A338T;ENSP00000415528:A603T;ENSP00000437165:A338T	.	A	+	1	0	CCDC81	85808733	0.793000	0.28825	0.997000	0.53966	0.670000	0.39368	0.539000	0.23175	1.461000	0.47929	0.650000	0.86243	GCT		0.507	CCDC81-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393756.1	NM_021827		12	29	0	0	0	1	0	12	29					A	86131085	G	A	86131085	3	1	291	1	0	0	0	0	1	0	0	0	2855	1203	42	3	1861	3	CCDC81	11	86131085	Missense_Mutation	SNP	G	TCGA-J9-A8CM-01A-11D-A34U-08	17772038	86131085	48875431	52	14057											
APOC3	345	broad.mit.edu	37	chr11	116701559	116701559	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atgaagcacgccaccaagacCgccaaggatgcactgagcag	14	3	11	13	2	0	3	0	2	0	1	0	4	0	4	4	1	3	3	4	1	3	0	rs533891893		TCGA-J9-A8CM-01A-11D-A34U-08	TCGA-J9-A8CM-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a01318-edcd-41e8-8be5-95fbc01e1e7e	b7b750a0-fdaa-42a2-b583-989423ec1b45	g.chr11:116701559C>A	ENST00000227667.3	+	3	188	c.126C>A	c.(124-126)acC>acA	p.T42T	APOC3_ENST00000470144.1_3'UTR|APOC3_ENST00000375345.1_Silent_p.T60T	NM_000040.1	NP_000031.1	P02656	APOC3_HUMAN	apolipoprotein C-III	42					cellular response to glucose stimulus (GO:0071333)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|chylomicron remnant clearance (GO:0034382)|G-protein coupled receptor signaling pathway (GO:0007186)|high-density lipoprotein particle remodeling (GO:0034375)|inflammatory response (GO:0006954)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|negative regulation of cholesterol import (GO:0060621)|negative regulation of fatty acid biosynthetic process (GO:0045717)|negative regulation of high-density lipoprotein particle clearance (GO:0010987)|negative regulation of lipid catabolic process (GO:0050995)|negative regulation of lipid metabolic process (GO:0045833)|negative regulation of lipoprotein lipase activity (GO:0051005)|negative regulation of low-density lipoprotein particle clearance (GO:0010989)|negative regulation of receptor-mediated endocytosis (GO:0048261)|negative regulation of triglyceride catabolic process (GO:0010897)|negative regulation of very-low-density lipoprotein particle clearance (GO:0010916)|negative regulation of very-low-density lipoprotein particle remodeling (GO:0010903)|phospholipid efflux (GO:0033700)|phototransduction, visible light (GO:0007603)|regulation of Cdc42 protein signal transduction (GO:0032489)|response to drug (GO:0042493)|response to nutrient (GO:0007584)|response to peptide hormone (GO:0043434)|retinoid metabolic process (GO:0001523)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)|triglyceride catabolic process (GO:0019433)|triglyceride homeostasis (GO:0070328)|triglyceride metabolic process (GO:0006641)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	chylomicron (GO:0042627)|early endosome (GO:0005769)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intermediate-density lipoprotein particle (GO:0034363)|spherical high-density lipoprotein particle (GO:0034366)|very-low-density lipoprotein particle (GO:0034361)	cholesterol binding (GO:0015485)|enzyme regulator activity (GO:0030234)|high-density lipoprotein particle receptor binding (GO:0070653)|lipase inhibitor activity (GO:0055102)|phospholipid binding (GO:0005543)			endometrium(1)|lung(6)	7	all_hematologic(175;0.0487)	Breast(348;0.0126)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.0564)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|Epithelial(105;1.62e-05)|all cancers(92;0.000165)|OV - Ovarian serous cystadenocarcinoma(223;0.148)		CCACCAAGACCGCCAAGGATG	0.647																																					GBM(81;259 1650 7161 35190)	ENST00000375345.1																			0				endometrium(1)|lung(6)	7						c.(178-180)acC>acA		apolipoprotein C-III							49	44	46					11																	116701559		2201	4296	6497	SO:0001819	synonymous_variant	345				Cdc42 protein signal transduction|cholesterol efflux|cholesterol homeostasis|chylomicron remnant clearance|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle remodeling|lipoprotein metabolic process|negative regulation of cholesterol import|negative regulation of fatty acid biosynthetic process|negative regulation of high-density lipoprotein particle clearance|negative regulation of lipoprotein lipase activity|negative regulation of low-density lipoprotein particle clearance|negative regulation of receptor-mediated endocytosis|negative regulation of triglyceride catabolic process|negative regulation of very-low-density lipoprotein particle clearance|negative regulation of very-low-density lipoprotein particle remodeling|phospholipid efflux|triglyceride catabolic process|triglyceride homeostasis|very-low-density lipoprotein particle assembly	chylomicron|intermediate-density lipoprotein particle|spherical high-density lipoprotein particle|very-low-density lipoprotein particle	high-density lipoprotein particle receptor binding|lipase inhibitor activity|phospholipid binding	g.chr11:116701559C>A	X01388	CCDS8377.1	11q23.3	2013-01-24			ENSG00000110245	ENSG00000110245		"Apolipoproteins"	610	protein-coding gene	gene with protein product		107720					Standard	NM_000040		Approved		uc001ppt.1	P02656	OTTHUMG00000046115	ENST00000227667.3:c.126C>A	11.37:g.116701559C>A						APOC3_ENST00000227667.3_Silent_p.T42T|APOC3_ENST00000470144.1_3'UTR	p.T60T			P02656	APOC3_HUMAN		BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|Epithelial(105;1.62e-05)|all cancers(92;0.000165)|OV - Ovarian serous cystadenocarcinoma(223;0.148)	3	242	+	all_hematologic(175;0.0487)	Breast(348;0.0126)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.0564)|all_neural(223;0.234)	42					Q08E83|Q6Q786	Silent	SNP	ENST00000227667.3	37	c.180C>A	CCDS8377.1																																																																																				0.647	APOC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106284.2	NM_000040		4	11	1	0	0.00024832	1	0.000266057	4	11					A	116701559	C	A	116701559	2	1	291	1	0	0	0	0	0	0	0	1	799	639	23	5		5	APOC3	11	116701559	Silent	SNP	C	TCGA-J9-A8CM-01A-11D-A34U-08	30570474	116701559	18304957	53	14058											
WIBG	84305	broad.mit.edu	37	chr12	56296006	56296006	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctcctttcgcttcaggttacGtttggctgtcttggagaggc	4	15	12	10	2	2	1	1	0	1	1	4	2	3	1	1	4	1	4	1	4	1	5			TCGA-J9-A8CM-01A-11D-A34U-08	TCGA-J9-A8CM-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a01318-edcd-41e8-8be5-95fbc01e1e7e	b7b750a0-fdaa-42a2-b583-989423ec1b45	g.chr12:56296006G>A	ENST00000408946.2	-	3	416	c.265C>T	c.(265-267)Cgt>Tgt	p.R89C	WIBG_ENST00000547925.1_3'UTR|WIBG_ENST00000398213.4_Missense_Mutation_p.R88C|WIBG_ENST00000557259.1_3'UTR|WIBG_ENST00000302533.6_5'UTR	NM_032345.2	NP_115721.1	Q9BRP8	WIBG_HUMAN	within bgcn homolog (Drosophila)	89					nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|positive regulation of translation (GO:0045727)	cytoplasm (GO:0005737)|exon-exon junction complex (GO:0035145)	poly(A) RNA binding (GO:0044822)|ribosome binding (GO:0043022)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	5						TTCAGGTTACGTTTGGCTGTC	0.577																																						ENST00000408946.2																			0				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	5						c.(265-267)Cgt>Tgt		within bgcn homolog (Drosophila)							75	73	74					12																	56296006		1974	4162	6136	SO:0001583	missense	84305				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of translation	cytoplasm|exon-exon junction complex|nucleolus|nucleoplasm	protein binding|ribosome binding|RNA binding	g.chr12:56296006G>A	BC014976	CCDS41795.1, CCDS44916.1	12q13.2	2008-02-05				ENSG00000170473			30258	protein-coding gene	gene with protein product						12438415, 12483225	Standard	NM_032345		Approved	PYM	uc001sif.1	Q9BRP8	OTTHUMG00000170220	ENST00000408946.2:c.265C>T	12.37:g.56296006G>A	ENSP00000386156:p.Arg89Cys					WIBG_ENST00000547925.1_3'UTR|WIBG_ENST00000398213.4_Missense_Mutation_p.R88C|WIBG_ENST00000302533.6_5'UTR|WIBG_ENST00000557259.1_3'UTR	p.R89C	NM_032345.2	NP_115721.1	Q9BRP8	WIBG_HUMAN			3	416	-			89					B6ZDM5|Q8IXJ8|Q8N8E7	Missense_Mutation	SNP	ENST00000408946.2	37	c.265C>T	CCDS41795.1	.	.	.	.	.	.	.	.	.	.	G	14.24	2.476231	0.44044	.	.	ENSG00000170473	ENST00000408946;ENST00000398213	T;T	0.34667	1.35;1.36	5.26	3.39	0.38822	.	0.105395	0.64402	N	0.000005	T	0.25494	0.0620	L	0.39898	1.24	0.80722	D	1	B;B	0.11235	0.004;0.001	B;B	0.08055	0.003;0.003	T	0.11991	-1.0565	10	0.72032	D	0.01	.	3.867	0.09021	0.0816:0.1392:0.5104:0.2689	.	89;88	Q9BRP8;Q9BRP8-2	WIBG_HUMAN;.	C	89;88	ENSP00000386156:R89C;ENSP00000381271:R88C	ENSP00000381271:R88C	R	-	1	0	WIBG	54582273	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.089000	0.57685	0.701000	0.31803	0.655000	0.94253	CGT		0.577	WIBG-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000408079.1	NM_032345		19	31	0	0	0	1	0	19	31					A	56296006	G	A	56296006	3	1	291	1	0	0	0	0	1	0	0	0	17362	1145	40	1	353	1	WIBG	12	56296006	Missense_Mutation	SNP	G	TCGA-J9-A8CM-01A-11D-A34U-08		56296006	77555889	54	14059											
SRRM4	84530	broad.mit.edu	37	chr12	119583327	119583327	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aaaccagctcagccaggtctCggggccaggagaaggggagc	11	3	16	11	1	2	1	1	0	1	1	3	3	2	2	3	6	4	1	3	6	2	0	rs563549457		TCGA-J9-A8CM-01A-11D-A34U-08	TCGA-J9-A8CM-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a01318-edcd-41e8-8be5-95fbc01e1e7e	b7b750a0-fdaa-42a2-b583-989423ec1b45	g.chr12:119583327C>T	ENST00000267260.4	+	9	1301	c.913C>T	c.(913-915)Cgg>Tgg	p.R305W		NM_194286.3	NP_919262.2	A7MD48	SRRM4_HUMAN	serine/arginine repetitive matrix 4	305	Ser-rich.				cell differentiation (GO:0030154)|mRNA processing (GO:0006397)|nervous system development (GO:0007399)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)|sensory perception of sound (GO:0007605)	nucleus (GO:0005634)	mRNA binding (GO:0003729)			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	24						AGCCAGGTCTCGGGGCCAGGA	0.632																																						ENST00000267260.4																			0				breast(2)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	24						c.(913-915)Cgg>Tgg		serine/arginine repetitive matrix 4							26	31	30					12																	119583327		1962	4156	6118	SO:0001583	missense	84530				cell differentiation|mRNA processing|nervous system development|regulation of RNA splicing|RNA splicing	nucleus	mRNA binding	g.chr12:119583327C>T	AB058756	CCDS44994.1	12q24.23	2009-09-22	2009-09-21	2009-09-21	ENSG00000139767	ENSG00000139767			29389	protein-coding gene	gene with protein product	"neural-specific SR-related protein of 100 kDa"	613103	"KIAA1853"	KIAA1853		19737518	Standard	NM_194286		Approved	nSR100	uc001txa.2	A7MD48	OTTHUMG00000168928	ENST00000267260.4:c.913C>T	12.37:g.119583327C>T	ENSP00000267260:p.Arg305Trp						p.R305W	NM_194286.3	NP_919262.2	A7MD48	SRRM4_HUMAN			9	1301	+			305			Ser-rich.		A8K5P6|B2RZH7|Q7Z5F0|Q96JH4	Missense_Mutation	SNP	ENST00000267260.4	37	c.913C>T	CCDS44994.1	.	.	.	.	.	.	.	.	.	.	C	18.37	3.608481	0.66558	.	.	ENSG00000139767	ENST00000267260	T	0.24350	1.86	5.48	3.46	0.39613	.	0.392078	0.28671	N	0.014534	T	0.22627	0.0546	L	0.44542	1.39	0.29963	N	0.819217	D	0.60160	0.987	B	0.43123	0.409	T	0.10359	-1.0633	9	.	.	.	-1.8525	12.5401	0.56165	0.3631:0.6369:0.0:0.0	.	305	A7MD48	SRRM4_HUMAN	W	305	ENSP00000267260:R305W	.	R	+	1	2	SRRM4	118067710	0.989000	0.36119	0.976000	0.42696	0.993000	0.82548	2.288000	0.43514	2.575000	0.86900	0.655000	0.94253	CGG		0.632	SRRM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401640.2	NM_194286		5	15	0	0	0	1	0	5	15					T	119583327	C	T	119583327	3	4	291	1	0	0	0	0	1	0	0	0	15170	875	31	2	947	2	SRRM4	12	119583327	Missense_Mutation	SNP	C	TCGA-J9-A8CM-01A-11D-A34U-08	63287321	119583327	14268568	55	14060											
BRCA2	675	broad.mit.edu	37	chr13	32911237	32911237	+	Frame_Shift_Del	DEL	T	T	-																															cttcatgaaacagacttgacTtgtgtaaacgaacccatttt																										TCGA-J9-A8CM-01A-11D-A34U-08	TCGA-J9-A8CM-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a01318-edcd-41e8-8be5-95fbc01e1e7e	b7b750a0-fdaa-42a2-b583-989423ec1b45	g.chr13:32911237delT	ENST00000380152.3	+	11	2978	c.2745delT	c.(2743-2745)actfs	p.T915fs	BRCA2_ENST00000544455.1_Frame_Shift_Del_p.T915fs			P51587	BRCA2_HUMAN	breast cancer 2, early onset	915	Interaction with NPM1.				brain development (GO:0007420)|cell aging (GO:0007569)|centrosome duplication (GO:0051298)|cytokinesis (GO:0000910)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|female gonad development (GO:0008585)|hemopoiesis (GO:0030097)|histone H3 acetylation (GO:0043966)|histone H4 acetylation (GO:0043967)|inner cell mass cell proliferation (GO:0001833)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|male meiosis I (GO:0007141)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|nucleotide-excision repair (GO:0006289)|oocyte maturation (GO:0001556)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cytokinesis (GO:0032465)|replication fork protection (GO:0048478)|response to gamma radiation (GO:0010332)|response to UV-C (GO:0010225)|response to X-ray (GO:0010165)|spermatogenesis (GO:0007283)	BRCA2-MAGE-D1 complex (GO:0033593)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)|secretory granule (GO:0030141)	gamma-tubulin binding (GO:0043015)|H3 histone acetyltransferase activity (GO:0010484)|H4 histone acetyltransferase activity (GO:0010485)|protease binding (GO:0002020)|single-stranded DNA binding (GO:0003697)			NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		CAGACTTGACTTGTGTAAACG	0.333			"D, Mis, N, F, S"		"breast, ovarian, pancreatic"	"breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)																											Esophageal Squamous(138;838 1285 7957 30353 30468 36915 49332)	ENST00000544455.1			yes	Rec	yes	Hereditary breast/ovarian cancer	13	13q12	675	"D, Mis, N, F, S"	familial breast/ovarian cancer gene 2			"L, E"		"breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"	"breast, ovarian, pancreatic"		0				NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183						c.(2743-2745)acfs	Homologous recombination	breast cancer 2, early onset							68	71	70					13																	32911237		2203	4298	6501	SO:0001589	frameshift_variant	675	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	Familial Cancer Database	incl.: Hereditary Pancreatic Adenocarcinoma, Insulin-Dependent Diabetes Mellitus - Exocrine Insufficiency - Familial Pancreatic Cancer, PNCA1;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;HPC; ;FANCD1;Pancytopenia Dysmelia, FA (several complementation groups)	cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding	g.chr13:32911237delT	U43746	CCDS9344.1	13q12-q13	2014-09-17	2003-10-14		ENSG00000139618	ENSG00000139618		"Fanconi anemia, complementation groups"	1101	protein-coding gene	gene with protein product	"BRCA1/BRCA2-containing complex, subunit 2"	600185	"Fanconi anemia, complementation group D1"	FANCD1, FACD, FANCD		8091231, 7581463, 15057823	Standard	NM_000059		Approved	FAD, FAD1, BRCC2	uc001uub.1	P51587	OTTHUMG00000017411	ENST00000380152.3:c.2745delT	13.37:g.32911237delT	ENSP00000369497:p.Thr915fs	TCGA Ovarian(8;0.087)				BRCA2_ENST00000380152.3_Frame_Shift_Del_p.T915fs	p.T915fs	NM_000059.3	NP_000050.2	P51587	BRCA2_HUMAN		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)	11	2972	+		Lung SC(185;0.0262)	915			Interaction with NPM1.		O00183|O15008|Q13879|Q5TBJ7	Frame_Shift_Del	DEL	ENST00000380152.3	37	c.2745delT	CCDS9344.1																																																																																				0.333	BRCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046000.2	NM_000059		17	34						17	34	---	---	---	---	-	32911237	T	-	32911237	7	5	291	1	0	1	0	1	0	0	0	0	1499	1596	56	0	2783	0	BRCA2	13	32911237	Frame_Shift_Del	DEL	T	TCGA-J9-A8CM-01A-11D-A34U-08		32911237	82258641	56	14061											
C13orf16	121793	broad.mit.edu	37	chr13	111973280	111973280	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agaactctccgcggcacctcCtgaagcaattcacaggtatg	11	8	9	13	2	2	2	1	1	1	1	4	2	3	2	3	2	2	3	3	2	4	2			TCGA-J9-A8CM-01A-11D-A34U-08	TCGA-J9-A8CM-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a01318-edcd-41e8-8be5-95fbc01e1e7e	b7b750a0-fdaa-42a2-b583-989423ec1b45	g.chr13:111973280C>T	ENST00000283547.1	+	2	172	c.43C>T	c.(43-45)Ctg>Ttg	p.L15L		NM_152324.1	NP_689537.1	Q8N6K0	TEX29_HUMAN	testis expressed 29	15						integral component of membrane (GO:0016021)											GCGGCACCTCCTGAAGCAATT	0.627																																						ENST00000283547.1																			0											c.(43-45)Ctg>Ttg		testis expressed 29							61	64	63					13																	111973280		2203	4300	6503	SO:0001819	synonymous_variant	121793					integral to membrane		g.chr13:111973280C>T	BC029889	CCDS9522.1	13q34	2012-03-23	2012-02-07	2012-02-07	ENSG00000153495	ENSG00000153495			20370	protein-coding gene	gene with protein product			"chromosome 13 open reading frame 16"	C13orf16			Standard	NM_152324		Approved	bA474D23.1, MGC35169	uc001vsa.3	Q8N6K0	OTTHUMG00000017358	ENST00000283547.1:c.43C>T	13.37:g.111973280C>T							p.L15L	NM_152324.1	NP_689537.1	Q8N6K0	CM016_HUMAN			2	172	+			15						Silent	SNP	ENST00000283547.1	37	c.43C>T	CCDS9522.1																																																																																				0.627	TEX29-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045812.2	NM_152324		10	71	0	0	0	1	0	10	71					T	111973280	C	T	111973280	2	4	291	1	0	0	0	0	0	0	0	1	1719	680	24	3		3	C13orf16	13	111973280	Silent	SNP	C	TCGA-J9-A8CM-01A-11D-A34U-08	79062043	111973280	3196598	57	14062											
C14orf105	55195	broad.mit.edu	37	chr14	57960372	57960372	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccgagggagtctctacctctTtgttttgcaaaggtgctact	7	14	10	10	1	2	0	0	0	2	0	3	2	2	1	2	2	4	3	2	2	3	5			TCGA-J9-A8CM-01A-11D-A34U-08	TCGA-J9-A8CM-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a01318-edcd-41e8-8be5-95fbc01e1e7e	b7b750a0-fdaa-42a2-b583-989423ec1b45	g.chr14:57960372T>C	ENST00000216445.3	-	1	198	c.62A>G	c.(61-63)aAa>aGa	p.K21R	C14orf105_ENST00000422976.2_Missense_Mutation_p.K21R|C14orf105_ENST00000526336.1_Missense_Mutation_p.K21R|C14orf105_ENST00000534126.1_Missense_Mutation_p.K21R	NM_001283057.1|NM_018168.2	NP_001269986.1|NP_060638.2	Q9NVL8	CN105_HUMAN	chromosome 14 open reading frame 105	21										breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)	11						CTCTACCTCTTTGTTTTGCAA	0.463																																						ENST00000216445.3																			0				breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)	11						c.(61-63)aAa>aGa		chromosome 14 open reading frame 105							75	73	73					14																	57960372		2203	4300	6503	SO:0001583	missense	55195							g.chr14:57960372T>C	AK001512	CCDS9730.1, CCDS61458.1, CCDS61459.1	14q22.2	2012-09-25			ENSG00000100557	ENSG00000100557			20189	protein-coding gene	gene with protein product							Standard	XM_005267806		Approved	FLJ10650	uc001xcy.2	Q9NVL8	OTTHUMG00000140317	ENST00000216445.3:c.62A>G	14.37:g.57960372T>C	ENSP00000216445:p.Lys21Arg					C14orf105_ENST00000534126.1_Missense_Mutation_p.K21R|C14orf105_ENST00000422976.2_Missense_Mutation_p.K21R|C14orf105_ENST00000526336.1_Missense_Mutation_p.K21R	p.K21R	NM_018168.2	NP_060638.2	Q9NVL8	CN105_HUMAN			1	198	-			21					Q53G04	Missense_Mutation	SNP	ENST00000216445.3	37	c.62A>G	CCDS9730.1	.	.	.	.	.	.	.	.	.	.	T	16.68	3.190022	0.58017	.	.	ENSG00000100557	ENST00000216445;ENST00000422976;ENST00000534126;ENST00000526336	T;T;T;T	0.51071	0.72;0.72;0.72;0.72	5.31	4.15	0.48705	.	0.529657	0.18140	N	0.150459	T	0.41604	0.1166	L	0.50333	1.59	0.21256	N	0.999747	P;B;B	0.52316	0.952;0.129;0.129	B;B;B	0.43916	0.436;0.117;0.117	T	0.28073	-1.0055	10	0.30854	T	0.27	-13.637	8.8705	0.35314	0.0:0.0891:0.0:0.9109	.	21;21;21	F5GWJ3;E9PSE9;Q9NVL8	.;.;CN105_HUMAN	R	21	ENSP00000216445:K21R;ENSP00000392368:K21R;ENSP00000434003:K21R;ENSP00000436517:K21R	ENSP00000216445:K21R	K	-	2	0	C14orf105	57030125	0.998000	0.40836	1.000000	0.80357	0.964000	0.63967	1.571000	0.36450	2.137000	0.66172	0.455000	0.32223	AAA		0.463	C14orf105-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276921.2	NM_018168		5	22	0	0	0	1	0	5	22					C	57960372	T	C	57960372	3	2	291	1	0	0	0	0	1	0	0	0	1737	1841	64	4	852	4	C14orf105	14	57960372	Missense_Mutation	SNP	T	TCGA-J9-A8CM-01A-11D-A34U-08		57960372	49389168	58	14063											
PPM1A	5494	broad.mit.edu	37	chr14	60749576	60749576	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttgccaagtggacttgaatCgtggtcattctttgctgtgt	6	17	11	7	1	2	1	1	1	1	0	3	2	2	2	1	2	2	1	1	2	2	4			TCGA-J9-A8CM-01A-11D-A34U-08	TCGA-J9-A8CM-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a01318-edcd-41e8-8be5-95fbc01e1e7e	b7b750a0-fdaa-42a2-b583-989423ec1b45	g.chr14:60749576C>A	ENST00000395076.4	+	2	585	c.155C>A	c.(154-156)tCg>tAg	p.S52*	PPM1A_ENST00000529574.1_Nonsense_Mutation_p.S52*|PPM1A_ENST00000325658.3_Nonsense_Mutation_p.S52*|PPM1A_ENST00000325642.3_Nonsense_Mutation_p.S125*	NM_021003.4	NP_066283.1	P35813	PPM1A_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1A	52					cell cycle arrest (GO:0007050)|dephosphorylation (GO:0016311)|gene expression (GO:0010467)|insulin receptor signaling pathway (GO:0008286)|N-terminal protein myristoylation (GO:0006499)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|negative regulation of SMAD protein complex assembly (GO:0010991)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|peptidyl-threonine dephosphorylation (GO:0035970)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway (GO:0030177)|protein dephosphorylation (GO:0006470)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|membrane (GO:0016020)|neuron projection (GO:0043005)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|voltage-gated calcium channel complex (GO:0005891)	calmodulin-dependent protein phosphatase activity (GO:0033192)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|protein serine/threonine phosphatase activity (GO:0004722)|R-SMAD binding (GO:0070412)|signal transducer activity (GO:0004871)			cervix(1)|endometrium(1)|large_intestine(8)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(108;0.046)		GGACTTGAATCGTGGTCATTC	0.473																																						ENST00000395076.4																			0				cervix(1)|endometrium(1)|large_intestine(8)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	14						c.(154-156)tCg>tAg		protein phosphatase, Mg2+/Mn2+ dependent, 1A							482	415	438					14																	60749576		2203	4300	6503	SO:0001587	stop_gained	5494				cell cycle arrest|insulin receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway|protein dephosphorylation|Wnt receptor signaling pathway	cytosol|nucleus|protein serine/threonine phosphatase complex	magnesium ion binding|manganese ion binding|protein serine/threonine phosphatase activity|signal transducer activity	g.chr14:60749576C>A	S87759	CCDS9744.1, CCDS9745.1, CCDS45120.1	14q23.1	2013-01-24	2010-03-05		ENSG00000100614	ENSG00000100614	3.1.3.16	"Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"	9275	protein-coding gene	gene with protein product	"phosphatase 2C alpha", "protein phosphatase 2C, alpha isoform"	606108	"protein phosphatase 1A (formerly 2C), magnesium-dependent, alpha isoform"			1311954	Standard	NM_177952		Approved	MGC9201, PP2Calpha, PP2CA	uc001xew.4	P35813	OTTHUMG00000140333	ENST00000395076.4:c.155C>A	14.37:g.60749576C>A	ENSP00000378514:p.Ser52*					PPM1A_ENST00000325658.3_Nonsense_Mutation_p.S52*|PPM1A_ENST00000325642.3_Nonsense_Mutation_p.S125*|PPM1A_ENST00000529574.1_Nonsense_Mutation_p.S52*	p.S52*	NM_021003.4	NP_066283.1	P35813	PPM1A_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.046)	2	585	+			52					B5BU11|J3KNM0|O75551	Nonsense_Mutation	SNP	ENST00000395076.4	37	c.155C>A	CCDS9744.1	.	.	.	.	.	.	.	.	.	.	C	31	5.091386	0.94149	.	.	ENSG00000100614	ENST00000325642;ENST00000529574;ENST00000395076;ENST00000325658;ENST00000528241;ENST00000525399;ENST00000531937	.	.	.	5.75	4.84	0.62591	.	0.559440	0.21123	N	0.079791	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.23891	T	0.37	-1.6174	14.8481	0.70275	0.0:0.7681:0.2319:0.0	.	.	.	.	X	125;52;52;52;52;52;52	.	ENSP00000327255:S125X	S	+	2	0	PPM1A	59819329	0.319000	0.24607	0.987000	0.45799	0.876000	0.50452	1.067000	0.30616	2.704000	0.92352	0.591000	0.81541	TCG		0.473	PPM1A-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000276949.2	NM_021003		13	244	1	0	7.03913e-09	1	8.30459e-09	13	244					A	60749576	C	A	60749576	4	1	291	1	0	0	0	0	0	1	0	0	12335	893	31	5	380	5	PPM1A	14	60749576	Nonsense_Mutation	SNP	C	TCGA-J9-A8CM-01A-11D-A34U-08	2789204	60749576	46599964	59	14064											
SMOC1	64093	broad.mit.edu	37	chr14	70480116	70480116	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	cttttaggctgtccagaaggGaagaaaatggagtttatcac	13	11	11	6	0	1	2	1	0	0	2	2	4	2	4	1	3	0	2	1	3	6	4			TCGA-J9-A8CM-01A-11D-A34U-08	TCGA-J9-A8CM-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a01318-edcd-41e8-8be5-95fbc01e1e7e	b7b750a0-fdaa-42a2-b583-989423ec1b45	g.chr14:70480116G>A	ENST00000381280.4	+	10	1207	c.954G>A	c.(952-954)ggG>ggA	p.G318G	SMOC1_ENST00000361956.3_Silent_p.G318G	NM_001034852.2|NM_022137.5	NP_001030024.1|NP_071420.1	Q9H4F8	SMOC1_HUMAN	SPARC related modular calcium binding 1	318					cell differentiation (GO:0030154)|extracellular matrix organization (GO:0030198)|eye development (GO:0001654)|limb development (GO:0060173)|positive regulation of cell-substrate adhesion (GO:0010811)|regulation of osteoblast differentiation (GO:0045667)|signal transduction (GO:0007165)	basement membrane (GO:0005604)	calcium ion binding (GO:0005509)|extracellular matrix binding (GO:0050840)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	21				all cancers(60;0.00417)|BRCA - Breast invasive adenocarcinoma(234;0.0119)|OV - Ovarian serous cystadenocarcinoma(108;0.028)		GTCCAGAAGGGAAGAAAATGG	0.443											OREG0022771	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000381280.4																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	21						c.(952-954)ggG>ggA		SPARC related modular calcium binding 1																																				SO:0001819	synonymous_variant	64093				cell differentiation|eye development|limb development|regulation of osteoblast differentiation|signal transduction	basement membrane	calcium ion binding	g.chr14:70480116G>A	AJ249900	CCDS9798.1, CCDS32110.1	14q24.1	2010-08-05			ENSG00000198732	ENSG00000198732			20318	protein-coding gene	gene with protein product		608488				12130637	Standard	NM_001034852		Approved		uc001xlt.2	Q9H4F8		ENST00000381280.4:c.954G>A	14.37:g.70480116G>A			OREG0022771	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1122	SMOC1_ENST00000361956.3_Silent_p.G318G	p.G318G	NM_001034852.2|NM_022137.5	NP_001030024.1|NP_071420.1	Q9H4F8	SMOC1_HUMAN		all cancers(60;0.00417)|BRCA - Breast invasive adenocarcinoma(234;0.0119)|OV - Ovarian serous cystadenocarcinoma(108;0.028)	10	1207	+			318					A8K1S3|B2R7P5|Q96F78	Silent	SNP	ENST00000381280.4	37	c.954G>A	CCDS9798.1																																																																																				0.443	SMOC1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000412467.1			15	25	0	0	0	1	0	15	25					A	70480116	G	A	70480116	2	1	291	1	0	0	0	0	0	0	0	1	14801	1161	41	3		3	SMOC1	14	70480116	Silent	SNP	G	TCGA-J9-A8CM-01A-11D-A34U-08	9730540	70480116	36869424	60	14065											
PPP1R13B	23368	broad.mit.edu	37	chr14	104251154	104251154	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tgttcactgttctcagttggGgagtcctcgtgtcgaaggaa	7	13	13	8	2	2	0	2	0	1	0	6	3	3	2	1	3	0	3	1	3	2	3			TCGA-J9-A8CM-01A-11D-A34U-08	TCGA-J9-A8CM-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a01318-edcd-41e8-8be5-95fbc01e1e7e	b7b750a0-fdaa-42a2-b583-989423ec1b45	g.chr14:104251154G>A	ENST00000202556.9	-	3	537	c.255C>T	c.(253-255)tcC>tcT	p.S85S		NM_015316.2	NP_056131.2	Q96KQ4	ASPP1_HUMAN	protein phosphatase 1, regulatory subunit 13B	85					intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|negative regulation of cell cycle (GO:0045786)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				endometrium(6)|kidney(2)|large_intestine(7)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)	33		all_cancers(154;0.173)|all_epithelial(191;0.131)|Melanoma(154;0.155)				TCTCAGTTGGGGAGTCCTCGT	0.368																																						ENST00000202556.9																			0				endometrium(6)|kidney(2)|large_intestine(7)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)	33						c.(253-255)tcC>tcT		protein phosphatase 1, regulatory subunit 13B							83	80	81					14																	104251154		1846	4089	5935	SO:0001819	synonymous_variant	23368				apoptosis|induction of apoptosis|negative regulation of cell cycle	cytoplasm|nucleus|plasma membrane	protein binding	g.chr14:104251154G>A	AB018314	CCDS41997.1	14q32.33	2013-01-10	2011-10-04		ENSG00000088808	ENSG00000088808		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "Ankyrin repeat domain containing"	14950	protein-coding gene	gene with protein product		606455	"protein phosphatase 1, regulatory (inhibitor) subunit 13B"			9872452	Standard	NM_015316		Approved	p53BP2-like, KIAA0771, p85, ASPP1	uc001yof.1	Q96KQ4	OTTHUMG00000171647	ENST00000202556.9:c.255C>T	14.37:g.104251154G>A							p.S85S	NM_015316.2	NP_056131.2	Q96KQ4	ASPP1_HUMAN			3	537	-		all_cancers(154;0.173)|all_epithelial(191;0.131)|Melanoma(154;0.155)	85					B2RMX5|O94870	Silent	SNP	ENST00000202556.9	37	c.255C>T	CCDS41997.1																																																																																				0.368	PPP1R13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414591.1	NM_015316		4	40	0	0	0	1	0	4	40					A	104251154	G	A	104251154	2	1	291	1	0	0	0	0	0	0	0	1	12357	1219	43	3		3	PPP1R13B	14	104251154	Silent	SNP	G	TCGA-J9-A8CM-01A-11D-A34U-08	33771038	104251154	3098386	61	14066											
C15orf23	90417	broad.mit.edu	37	chr15	40675138	40675138	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgcctagctaccggaagttTctatttgaaacccaggcggc	9	9	10	13	3	1	1	0	1	1	0	1	2	1	2	4	3	3	2	4	3	5	5	rs540599208		TCGA-J9-A8CM-01A-11D-A34U-08	TCGA-J9-A8CM-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a01318-edcd-41e8-8be5-95fbc01e1e7e	b7b750a0-fdaa-42a2-b583-989423ec1b45	g.chr15:40675138T>C	ENST00000249776.8	+	1	217	c.102T>C	c.(100-102)ttT>ttC	p.F34F	KNSTRN_ENST00000608100.1_5'Flank|KNSTRN_ENST00000448395.2_Silent_p.F34F|KNSTRN_ENST00000416151.2_Silent_p.F34F	NM_033286.3	NP_150628.3			kinetochore-localized astrin/SPAG5 binding protein																		ACCGGAAGTTTCTATTTGAAA	0.597													T|||	1	0.000199681	8e-04	0	5008	,	,		17986	0		0	False		,,,				2504	0					ENST00000416151.2																			0											c.(100-102)ttT>ttC		kinetochore-localized astrin/SPAG5 binding protein							49	54	52					15																	40675138		1854	4097	5951	SO:0001819	synonymous_variant	90417							g.chr15:40675138T>C	AK027408	CCDS42021.1, CCDS45226.1, CCDS45227.1	15q15.1	2013-01-17	2012-12-04	2012-12-04	ENSG00000128944	ENSG00000128944			30767	protein-coding gene	gene with protein product	"small kinetochore-associated protein", "kinetochore-localized astrin-binding protein", "TRAF4 associated factor 1"	614718	"chromosome 15 open reading frame 23"	C15orf23		12477932	Standard	NM_033286		Approved	FLJ14502, SKAP, kinastrin, TRAF4AF1	uc001zll.3	Q9Y448	OTTHUMG00000172454	ENST00000249776.8:c.102T>C	15.37:g.40675138T>C						KNSTRN_ENST00000249776.8_Silent_p.F34F|KNSTRN_ENST00000448395.2_Silent_p.F34F	p.F34F	NM_001142761.1	NP_001136233.1					1	217	+									Silent	SNP	ENST00000249776.8	37	c.102T>C	CCDS42021.1																																																																																				0.597	KNSTRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418636.1	NM_001142761		13	46	0	0	0	1	0	13	46					C	40675138	T	C	40675138	2	2	291	1	0	0	0	0	0	0	0	1	1785	1780	62	4		4	C15orf23	15	40675138	Silent	SNP	T	TCGA-J9-A8CM-01A-11D-A34U-08		40675138	61856254	62	14067											
ISLR	3671	broad.mit.edu	37	chr15	74467974	74467974	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctggcactgcactgtgatGtggacgggcagccggcccct	5	8	15	13	2	0	1	0	1	0	0	0	2	0	2	3	4	3	4	3	4	0	0			TCGA-J9-A8CM-01A-11D-A34U-08	TCGA-J9-A8CM-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a01318-edcd-41e8-8be5-95fbc01e1e7e	b7b750a0-fdaa-42a2-b583-989423ec1b45	g.chr15:74467974G>A	ENST00000249842.3	+	2	1132	c.775G>A	c.(775-777)Gtg>Atg	p.V259M	ISLR_ENST00000395118.1_Missense_Mutation_p.V259M|RP11-665J16.1_ENST00000561647.1_RNA	NM_005545.3	NP_005536.1	O14498	ISLR_HUMAN	immunoglobulin superfamily containing leucine-rich repeat	259	Ig-like.				cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)				central_nervous_system(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)	20						GCACTGTGATGTGGACGGGCA	0.642																																						ENST00000249842.3																			0				central_nervous_system(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)	20						c.(775-777)Gtg>Atg		immunoglobulin superfamily containing leucine-rich repeat							55	56	56					15																	74467974		2198	4297	6495	SO:0001583	missense	3671				cell adhesion	extracellular region		g.chr15:74467974G>A	AB003184	CCDS10260.1	15q23-q24	2013-01-11			ENSG00000129009	ENSG00000129009		"Immunoglobulin superfamily / I-set domain containing"	6133	protein-coding gene	gene with protein product		602059				9325048	Standard	NM_005545		Approved	HsT17563	uc002axh.1	O14498	OTTHUMG00000137623	ENST00000249842.3:c.775G>A	15.37:g.74467974G>A	ENSP00000249842:p.Val259Met					RP11-665J16.1_ENST00000561647.1_RNA|ISLR_ENST00000395118.1_Missense_Mutation_p.V259M	p.V259M	NM_005545.3	NP_005536.1	O14498	ISLR_HUMAN			2	1132	+			259			Ig-like.			Missense_Mutation	SNP	ENST00000249842.3	37	c.775G>A	CCDS10260.1	.	.	.	.	.	.	.	.	.	.	G	7.971	0.749028	0.15710	.	.	ENSG00000129009	ENST00000249842;ENST00000395118	T;T	0.75154	-0.91;-0.91	4.21	1.8	0.24995	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.612059	0.12995	U	0.422174	D	0.84696	0.5529	M	0.90145	3.09	0.09310	N	1	D	0.61080	0.989	P	0.58077	0.832	T	0.74272	-0.3719	10	0.72032	D	0.01	.	9.8672	0.41152	0.2029:0.0:0.7971:0.0	.	259	O14498	ISLR_HUMAN	M	259	ENSP00000249842:V259M;ENSP00000378550:V259M	ENSP00000249842:V259M	V	+	1	0	ISLR	72255027	0.084000	0.21492	0.199000	0.23439	0.113000	0.19764	2.320000	0.43797	0.739000	0.32628	0.313000	0.20887	GTG		0.642	ISLR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269044.1	NM_005545		13	45	0	0	0	1	0	13	45					A	74467974	G	A	74467974	3	1	291	1	0	0	0	0	1	0	0	0	7858	1377	48	3	777	3	ISLR	15	74467974	Missense_Mutation	SNP	G	TCGA-J9-A8CM-01A-11D-A34U-08	33792836	74467974	28063418	63	14068											
LINGO1	84894	broad.mit.edu	37	chr15	77907021	77907021	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gggcagtagcacatcagggaAgtccttgaactccttgccct	9	9	11	12	0	1	1	1	1	0	0	3	2	3	2	3	2	3	3	3	2	3	3			TCGA-J9-A8CM-01A-11D-A34U-08	TCGA-J9-A8CM-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a01318-edcd-41e8-8be5-95fbc01e1e7e	b7b750a0-fdaa-42a2-b583-989423ec1b45	g.chr15:77907021A>T	ENST00000355300.6	-	2	1402	c.1228T>A	c.(1228-1230)Ttc>Atc	p.F410I	LINGO1_ENST00000561030.1_Missense_Mutation_p.F404I	NM_032808.5	NP_116197.4	Q96FE5	LIGO1_HUMAN	leucine rich repeat and Ig domain containing 1	410	LRRCT.				central nervous system neuron development (GO:0021954)|negative regulation of axonogenesis (GO:0050771)|negative regulation of oligodendrocyte differentiation (GO:0048715)|neuron projection development (GO:0031175)|neurotrophin TRK receptor signaling pathway (GO:0048011)|protein kinase B signaling (GO:0043491)|regulation of axonogenesis (GO:0050770)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	31						ACATCAGGGAAGTCCTTGAAC	0.662																																						ENST00000355300.6																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	31						c.(1228-1230)Ttc>Atc		leucine rich repeat and Ig domain containing 1							19	25	23					15																	77907021		2097	4202	6299	SO:0001583	missense	84894				negative regulation of axonogenesis|nerve growth factor receptor signaling pathway	integral to membrane|plasma membrane		g.chr15:77907021A>T	AK027500	CCDS45313.1, CCDS73766.1	15q24	2013-01-11	2007-02-01	2007-02-01		ENSG00000169783		"Immunoglobulin superfamily / I-set domain containing"	21205	protein-coding gene	gene with protein product		609791	"leucine rich repeat neuronal 6A"	LRRN6A		14686891	Standard	XM_006720723		Approved	FLJ14594, LERN1	uc002bct.1	Q96FE5		ENST00000355300.6:c.1228T>A	15.37:g.77907021A>T	ENSP00000347451:p.Phe410Ile					LINGO1_ENST00000561030.1_Missense_Mutation_p.F404I	p.F410I	NM_032808.5	NP_116197.4	Q96FE5	LIGO1_HUMAN			2	1402	-			410			LRRCT.		D3DW80|Q6NUK3|Q6UXM3|Q6VVG0|Q6VVG1|Q6VVG2|Q8N3K5|Q96K52	Missense_Mutation	SNP	ENST00000355300.6	37	c.1228T>A	CCDS45313.1	.	.	.	.	.	.	.	.	.	.	A	21.5	4.161035	0.78226	.	.	ENSG00000169783	ENST00000355300	T	0.51574	0.7	4.93	4.93	0.64822	Cysteine-rich flanking region, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.53254	0.1785	L	0.41710	1.295	0.80722	D	1	D	0.65815	0.995	P	0.58970	0.849	T	0.46020	-0.9221	10	0.21014	T	0.42	.	14.5809	0.68288	1.0:0.0:0.0:0.0	.	410	Q96FE5	LIGO1_HUMAN	I	410	ENSP00000347451:F410I	ENSP00000347451:F410I	F	-	1	0	LINGO1	75694076	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.339000	0.96797	1.850000	0.53721	0.379000	0.24179	TTC		0.662	LINGO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419546.1	NM_032808		5	10	0	0	0	1	0	5	10					T	77907021	A	T	77907021	3	4	291	1	0	0	0	0	1	0	0	0	8814	72	3	5	638	5	LINGO1	15	77907021	Missense_Mutation	SNP	A	TCGA-J9-A8CM-01A-11D-A34U-08	3439047	77907021	24624371	64	14069											
PDE8A	5151	broad.mit.edu	37	chr15	85626866	85626866	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggagaggtgcgatcacaacTgaaactcaggtaattctacc	13	9	10	9	1	3	2	2	1	1	1	3	4	3	2	1	3	4	1	1	3	4	3			TCGA-J9-A8CM-01A-11D-A34U-08	TCGA-J9-A8CM-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a01318-edcd-41e8-8be5-95fbc01e1e7e	b7b750a0-fdaa-42a2-b583-989423ec1b45	g.chr15:85626866T>A	ENST00000310298.4	+	7	878	c.626T>A	c.(625-627)cTg>cAg	p.L209Q	PDE8A_ENST00000557819.2_3'UTR|PDE8A_ENST00000394553.1_Missense_Mutation_p.L209Q|PDE8A_ENST00000557957.1_Missense_Mutation_p.L137Q|PDE8A_ENST00000339708.5_Missense_Mutation_p.L209Q			O60658	PDE8A_HUMAN	phosphodiesterase 8A	209					cAMP catabolic process (GO:0006198)|cyclic nucleotide metabolic process (GO:0009187)|phosphorelay signal transduction system (GO:0000160)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	25	Colorectal(223;0.227)		BRCA - Breast invasive adenocarcinoma(143;0.0608)		Caffeine(DB00201)|Ketotifen(DB00920)	CGATCACAACTGAAACTCAGG	0.468																																						ENST00000310298.4																			0				NS(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	25						c.(625-627)cTg>cAg		phosphodiesterase 8A							73	66	68					15																	85626866		2203	4299	6502	SO:0001583	missense	5151				cyclic nucleotide metabolic process|regulation of transcription, DNA-dependent	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|two-component response regulator activity	g.chr15:85626866T>A	AF056490	CCDS10336.1, CCDS10337.1, CCDS58397.1	15q25.3	2008-05-14			ENSG00000073417	ENSG00000073417	3.1.4.17	"Phosphodiesterases"	8793	protein-coding gene	gene with protein product		602972				9618252	Standard	NM_001243137		Approved	HsT19550	uc002blh.3	O60658	OTTHUMG00000148670	ENST00000310298.4:c.626T>A	15.37:g.85626866T>A	ENSP00000311453:p.Leu209Gln					PDE8A_ENST00000394553.1_Missense_Mutation_p.L209Q|PDE8A_ENST00000557957.1_Missense_Mutation_p.L137Q|PDE8A_ENST00000557819.2_3'UTR|PDE8A_ENST00000339708.5_Missense_Mutation_p.L209Q	p.L209Q			O60658	PDE8A_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0608)		7	878	+	Colorectal(223;0.227)		209					B3KXE6|H0YMZ7|Q6P9H3|Q969I1|Q96PC9|Q96PD0|Q96PD1|Q96T71|Q9UMB7|Q9UMC3	Missense_Mutation	SNP	ENST00000310298.4	37	c.626T>A	CCDS10336.1	.	.	.	.	.	.	.	.	.	.	T	23.5	4.425411	0.83667	.	.	ENSG00000073417	ENST00000310298;ENST00000394553;ENST00000339708	T;T;T	0.71698	-0.58;-0.58;-0.59	5.33	5.33	0.75918	.	0.063243	0.64402	D	0.000007	T	0.76579	0.4007	L	0.46157	1.445	0.41788	D	0.989854	D;D	0.65815	0.973;0.995	P;D	0.63033	0.847;0.91	T	0.74878	-0.3514	10	0.31617	T	0.26	.	13.5704	0.61843	0.0:0.0:0.0:1.0	.	209;209	O60658-2;O60658	.;PDE8A_HUMAN	Q	209	ENSP00000311453:L209Q;ENSP00000378056:L209Q;ENSP00000340679:L209Q	ENSP00000311453:L209Q	L	+	2	0	PDE8A	83427870	1.000000	0.71417	0.991000	0.47740	0.989000	0.77384	7.352000	0.79404	2.145000	0.66743	0.533000	0.62120	CTG		0.468	PDE8A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000309018.1	NM_002605		5	23	0	0	0	1	0	5	23					A	85626866	T	A	85626866	3	1	291	1	0	0	0	0	1	0	0	0	11653	1580	55	5	648	5	PDE8A	15	85626866	Missense_Mutation	SNP	T	TCGA-J9-A8CM-01A-11D-A34U-08	7719845	85626866	16904526	65	14070											
MMP25	64386	broad.mit.edu	37	chr16	3100525	3100525	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actcactttgacgatgaggaGacctggacttttgggtcaaa	11	11	11	8	1	2	3	2	2	0	1	2	6	2	4	1	3	0	0	1	3	1	3			TCGA-J9-A8CM-01A-11D-A34U-08	TCGA-J9-A8CM-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a01318-edcd-41e8-8be5-95fbc01e1e7e	b7b750a0-fdaa-42a2-b583-989423ec1b45	g.chr16:3100525G>T	ENST00000336577.4	+	4	876	c.639G>T	c.(637-639)gaG>gaT	p.E213D	MMP25_ENST00000570755.1_3'UTR|RP11-473M20.7_ENST00000573130.1_RNA|RP11-473M20.7_ENST00000576250.1_RNA	NM_022468.4	NP_071913.1	Q9H239	MMP28_HUMAN	matrix metallopeptidase 25	222					negative regulation of macrophage chemotaxis (GO:0010760)	cytoplasm (GO:0005737)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|skin(1)	14					Marimastat(DB00786)	ACGATGAGGAGACCTGGACTT	0.512																																					NSCLC(147;665 1067 3888 6863 19894 30469 40247 45633 51336)	ENST00000336577.4																			0				endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|skin(1)	14						c.(637-639)gaG>gaT		matrix metallopeptidase 25							42	45	44					16																	3100525		2197	4300	6497	SO:0001583	missense	64386				inflammatory response|proteolysis	anchored to membrane|cell surface|plasma membrane|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding	g.chr16:3100525G>T	AF145442	CCDS10492.1	16p13.3	2008-02-05	2005-08-08			ENSG00000008516			14246	protein-coding gene	gene with protein product		608482	"matrix metalloproteinase 25", "matrix metallopeptidase-like 1"	MMPL1, MMP20		10628838, 10706098	Standard	NM_022468		Approved	MT6-MMP	uc002cth.3	Q9NPA2		ENST00000336577.4:c.639G>T	16.37:g.3100525G>T	ENSP00000337816:p.Glu213Asp					MMP25_ENST00000570755.1_3'UTR	p.E213D	NM_022468.4	NP_071913.1	Q9NPA2	MMP25_HUMAN			4	876	+			213					Q96F04|Q96TE2	Missense_Mutation	SNP	ENST00000336577.4	37	c.639G>T	CCDS10492.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.088725	0.76756	.	.	ENSG00000008516	ENST00000336577;ENST00000325800	T	0.30714	1.52	5.08	2.72	0.32119	Peptidase M10, metallopeptidase (1);Peptidase, metallopeptidase (1);Metallopeptidase, catalytic domain (1);	0.131851	0.33691	N	0.004657	T	0.58409	0.2120	M	0.92970	3.365	0.42385	D	0.992503	D;D	0.63880	0.993;0.97	D;P	0.72982	0.979;0.706	T	0.63328	-0.6662	10	0.72032	D	0.01	.	7.3543	0.26711	0.3041:0.0:0.6959:0.0	.	137;213	O43923;Q9NPA2	.;MMP25_HUMAN	D	213;140	ENSP00000337816:E213D	ENSP00000324953:E140D	E	+	3	2	MMP25	3040526	0.864000	0.29904	1.000000	0.80357	0.996000	0.88848	1.233000	0.32648	1.135000	0.42183	0.655000	0.94253	GAG		0.512	MMP25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437116.1	NM_022468		11	30	1	0	0.000978159	1	0.00102707	11	30					T	3100525	G	T	3100525	3	4	291	1	0	0	0	0	1	0	0	0	9662	933	33	5	653	5	MMP25	16	3100525	Missense_Mutation	SNP	G	TCGA-J9-A8CM-01A-11D-A34U-08		3100525	87254228	66	14071											
PARN	5073	broad.mit.edu	37	chr16	14540829	14540829	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggctctgcacaggaatcggTctgctcaagctcagtgtcgg	7	9	14	11	2	4	0	2	0	2	0	6	1	4	1	0	4	3	4	0	4	2	0			TCGA-J9-A8CM-01A-11D-A34U-08	TCGA-J9-A8CM-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a01318-edcd-41e8-8be5-95fbc01e1e7e	b7b750a0-fdaa-42a2-b583-989423ec1b45	g.chr16:14540829T>A	ENST00000437198.2	-	23	1921	c.1780A>T	c.(1780-1782)Acc>Tcc	p.T594S	PARN_ENST00000539279.1_Missense_Mutation_p.T419S|PARN_ENST00000341484.7_Missense_Mutation_p.T533S|PARN_ENST00000420015.2_Missense_Mutation_p.T548S	NM_001134477.2|NM_002582.3	NP_001127949.1|NP_002573.1	O95453	PARN_HUMAN	poly(A)-specific ribonuclease	594					female gamete generation (GO:0007292)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|RNA metabolic process (GO:0016070)|RNA modification (GO:0009451)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|mRNA 3'-UTR binding (GO:0003730)|nuclease activity (GO:0004518)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|poly(A)-specific ribonuclease activity (GO:0004535)|protein kinase binding (GO:0019901)			cervix(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|urinary_tract(1)	21						CAGGAATCGGTCTGCTCAAGC	0.488																																						ENST00000437198.2																			0				cervix(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|urinary_tract(1)	21						c.(1780-1782)Acc>Tcc		poly(A)-specific ribonuclease							124	120	121					16																	14540829		1893	4111	6004	SO:0001583	missense	5073				female gamete generation|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|RNA modification	cytosol|nucleolus	metal ion binding|mRNA 3'-UTR binding|nucleotide binding|poly(A)-specific ribonuclease activity|protein binding	g.chr16:14540829T>A	AJ005698	CCDS45419.1, CCDS45420.1, CCDS58425.1	16p13	2014-08-08	2011-07-07		ENSG00000140694	ENSG00000140694	3.1.13.4		8609	protein-coding gene	gene with protein product	"deadenylation nuclease"	604212	"poly(A)-specific ribonuclease (deadenylation nuclease)"			10640832	Standard	NM_002582		Approved	DAN	uc010uzd.2	O95453	OTTHUMG00000173199	ENST00000437198.2:c.1780A>T	16.37:g.14540829T>A	ENSP00000387911:p.Thr594Ser					PARN_ENST00000539279.1_Missense_Mutation_p.T419S|PARN_ENST00000420015.2_Missense_Mutation_p.T548S|PARN_ENST00000341484.7_Missense_Mutation_p.T533S	p.T594S	NM_001134477.2|NM_002582.3	NP_001127949.1|NP_002573.1	O95453	PARN_HUMAN			23	1921	-			594					B2RCB3|B4DDG8|B4DWR4|B4E1H6	Missense_Mutation	SNP	ENST00000437198.2	37	c.1780A>T	CCDS45419.1	.	.	.	.	.	.	.	.	.	.	T	10.86	1.469366	0.26423	.	.	ENSG00000140694	ENST00000437198;ENST00000341484;ENST00000420015;ENST00000539279	.	.	.	5.65	4.54	0.55810	.	0.671815	0.15297	N	0.269835	T	0.30885	0.0779	L	0.27053	0.805	0.32154	N	0.583872	B;B;B	0.14805	0.011;0.0;0.0	B;B;B	0.06405	0.002;0.0;0.0	T	0.31806	-0.9930	9	0.09590	T	0.72	-4.1883	9.6023	0.39612	0.1691:0.0:0.0:0.8309	.	419;548;594	B4DSB0;B4DWR4;O95453	.;.;PARN_HUMAN	S	594;533;548;419	.	ENSP00000345456:T533S	T	-	1	0	PARN	14448330	0.808000	0.29022	0.348000	0.25681	0.251000	0.25915	0.708000	0.25719	1.035000	0.39972	0.528000	0.53228	ACC		0.488	PARN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422383.1	NM_002582		15	42	0	0	0	1	0	15	42					A	14540829	T	A	14540829	3	1	291	1	0	0	0	0	1	0	0	0	11453	1667	58	5	147	5	PARN	16	14540829	Missense_Mutation	SNP	T	TCGA-J9-A8CM-01A-11D-A34U-08	11440304	14540829	75813924	67	14072											
ZNF629	23361	broad.mit.edu	37	chr16	30795098	30795098	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	agctctgcgtgaagctcttgCcgcactcggagcaggtgttg	6	10	14	11	3	2	1	0	1	2	0	3	2	2	2	1	2	5	5	1	2	1	2			TCGA-J9-A8CM-01A-11D-A34U-08	TCGA-J9-A8CM-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a01318-edcd-41e8-8be5-95fbc01e1e7e	b7b750a0-fdaa-42a2-b583-989423ec1b45	g.chr16:30795098C>T	ENST00000262525.4	-	3	758	c.551G>A	c.(550-552)gGc>gAc	p.G184D		NM_001080417.1	NP_001073886.1	Q9UEG4	ZN629_HUMAN	zinc finger protein 629	184					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(3)|urinary_tract(1)	22			Colorectal(24;0.198)			GAAGCTCTTGCCGCACTCGGA	0.652																																						ENST00000262525.4																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(3)|urinary_tract(1)	22						c.(550-552)gGc>gAc		zinc finger protein 629							42	43	43					16																	30795098		2197	4300	6497	SO:0001583	missense	23361				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:30795098C>T	AB002324	CCDS45463.1	16p11.2	2013-01-08				ENSG00000102870		"Zinc fingers, C2H2-type"	29008	protein-coding gene	gene with protein product			"zinc finger protein 65"	ZNF65		9205841	Standard	NM_001080417		Approved	KIAA0326	uc002dzs.1	Q9UEG4		ENST00000262525.4:c.551G>A	16.37:g.30795098C>T	ENSP00000262525:p.Gly184Asp						p.G184D	NM_001080417.1	NP_001073886.1	Q9UEG4	ZN629_HUMAN	Colorectal(24;0.198)		3	758	-			184					Q15938	Missense_Mutation	SNP	ENST00000262525.4	37	c.551G>A	CCDS45463.1	.	.	.	.	.	.	.	.	.	.	C	16.64	3.180777	0.57800	.	.	ENSG00000102870	ENST00000262525	T	0.01430	4.9	4.96	4.96	0.65561	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.46442	D	0.000289	T	0.06005	0.0156	L	0.59436	1.845	0.40906	D	0.98419	D	0.89917	1.0	D	0.85130	0.997	T	0.11275	-1.0594	10	0.62326	D	0.03	-37.8381	10.9511	0.47330	0.0:0.9115:0.0:0.0885	.	184	Q9UEG4	ZN629_HUMAN	D	184	ENSP00000262525:G184D	ENSP00000262525:G184D	G	-	2	0	ZNF629	30702599	0.705000	0.27846	1.000000	0.80357	0.980000	0.70556	1.535000	0.36061	2.459000	0.83118	0.561000	0.74099	GGC		0.652	ZNF629-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434291.1	NM_015309		4	23	0	0	0	1	0	4	23					T	30795098	C	T	30795098	3	4	291	1	0	0	0	0	1	0	0	0	18050	739	26	3	2062	3	ZNF629	16	30795098	Missense_Mutation	SNP	C	TCGA-J9-A8CM-01A-11D-A34U-08	16254269	30795098	59559655	68	14073											
GPR97	222487	broad.mit.edu	37	chr16	57718006	57718006	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ggggctgtcttccactacttCctgctctgtgccttcacctg	3	14	9	15	0	3	0	1	0	2	0	5	0	5	0	4	2	3	2	4	2	1	4	rs368898879		TCGA-J9-A8CM-01A-11D-A34U-08	TCGA-J9-A8CM-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a01318-edcd-41e8-8be5-95fbc01e1e7e	b7b750a0-fdaa-42a2-b583-989423ec1b45	g.chr16:57718006C>T	ENST00000333493.4	+	9	1205	c.1044C>T	c.(1042-1044)ttC>ttT	p.F348F	GPR97_ENST00000450388.3_Silent_p.F228F|GPR97_ENST00000327655.6_Silent_p.F138F|RP11-405F3.4_ENST00000563062.1_RNA	NM_170776.4	NP_740746.4	Q86Y34	GPR97_HUMAN	G protein-coupled receptor 97	348					neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						TCCACTACTTCCTGCTCTGTG	0.587																																						ENST00000333493.4																			0				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						c.(1042-1044)ttC>ttT		G protein-coupled receptor 97		C		0,4396		0,0,2198	105	101	102		1044	1	1	16		102	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	GPR97	NM_170776.4		0,1,6497	TT,TC,CC		0.0116,0.0,0.0077		348/550	57718006	1,12995	2198	4300	6498	SO:0001819	synonymous_variant	222487				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr16:57718006C>T	AY140959	CCDS10786.1	16q13	2014-08-08			ENSG00000182885	ENSG00000182885		"-", "GPCR / Class B : Orphans"	13728	protein-coding gene	gene with protein product						12435584, 222487	Standard	NM_170776		Approved	Pb99, PGR26	uc002emh.3	Q86Y34	OTTHUMG00000133458	ENST00000333493.4:c.1044C>T	16.37:g.57718006C>T						RP11-405F3.4_ENST00000563062.1_RNA|GPR97_ENST00000450388.3_Silent_p.F228F|GPR97_ENST00000327655.6_Silent_p.F138F	p.F348F	NM_170776.4	NP_740746.4	Q86Y34	GPR97_HUMAN			9	1205	+			348					Q6ZMF4|Q86SL9|Q8IZF1	Silent	SNP	ENST00000333493.4	37	c.1044C>T	CCDS10786.1																																																																																				0.587	GPR97-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257333.2	NM_170776		14	40	0	0	0	1	0	14	40					T	57718006	C	T	57718006	2	4	291	1	0	0	0	0	0	0	0	1	6720	854	30	3		3	GPR97	16	57718006	Silent	SNP	C	TCGA-J9-A8CM-01A-11D-A34U-08	26922908	57718006	32636747	69	14074											
RLTPR	146206	broad.mit.edu	37	chr16	67688783	67688799	+	Frame_Shift_Del	DEL	GCCGAAGGCAAGAGGAA	GCCGAAGGCAAGAGGAA	-																															tcagccgaggcagcgggggtGccgaaggcaagaggaagcaa																										TCGA-J9-A8CM-01A-11D-A34U-08	TCGA-J9-A8CM-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a01318-edcd-41e8-8be5-95fbc01e1e7e	b7b750a0-fdaa-42a2-b583-989423ec1b45	g.chr16:67688783_67688799delGCCGAAGGCAAGAGGAA	ENST00000334583.6	+	32	4013_4029	c.3685_3701delGCCGAAGGCAAGAGGAA	c.(3685-3702)gccgaaggcaagaggaagfs	p.AEGKRK1229fs	RLTPR_ENST00000545661.1_Frame_Shift_Del_p.AEGKRK1193fs	NM_001013838.1	NP_001013860.1	Q6F5E8	LR16C_HUMAN	RGD motif, leucine rich repeats, tropomodulin domain and proline-rich containing	1229					cell migration (GO:0016477)|establishment of protein localization (GO:0045184)|homeostasis of number of cells (GO:0048872)|maintenance of cell polarity (GO:0030011)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interferon-gamma secretion (GO:1902715)|positive regulation of interleukin-2 secretion (GO:1900042)|positive regulation of regulatory T cell differentiation (GO:0045591)|positive regulation of T cell proliferation (GO:0042102)|T cell receptor signaling pathway (GO:0050852)|thymus development (GO:0048538)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|F-actin capping protein complex (GO:0008290)|immunological synapse (GO:0001772)|membrane (GO:0016020)		p.E1230K(1)|p.E1270K(1)		breast(1)|cervix(1)|endometrium(4)|kidney(1)|lung(9)|urinary_tract(2)	18		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0146)|Epithelial(162;0.0481)|all cancers(182;0.232)		CAGCGGGGGTGCCGAAGGCAAGAGGAAGCAAGTGAGT	0.571																																						ENST00000334583.6																			2	Substitution - Missense(2)	p.E1230K(1)|p.E1270K(1)	cervix(2)	breast(1)|cervix(1)|endometrium(4)|kidney(1)|lung(9)|urinary_tract(2)	18						c.(3685-3702)gfs		RGD motif, leucine rich repeats, tropomodulin domain and proline-rich containing																																				SO:0001589	frameshift_variant	146206							g.chr16:67688783_67688799delGCCGAAGGCAAGAGGAA	AB113647	CCDS45513.1	16q22.1	2010-09-10				ENSG00000159753			27089	protein-coding gene	gene with protein product	"RGD, leucine-rich repeat, tropomodulin and proline-rich containing protein", "leucine rich repeat containing 16C"	610859				15588584, 19846667	Standard	XM_005255807		Approved	LRRC16C, CARMIL2	uc002etn.3	Q6F5E8		ENST00000334583.6:c.3685_3701delGCCGAAGGCAAGAGGAA	16.37:g.67688783_67688799delGCCGAAGGCAAGAGGAA	ENSP00000334958:p.Ala1229fs					RLTPR_ENST00000545661.1_Frame_Shift_Del_p.AEGKRK1193fs	p.AEGKRK1229fs	NM_001013838.1	NP_001013860.1	Q6F5E8	LR16C_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0146)|Epithelial(162;0.0481)|all cancers(182;0.232)	32	4013_4029	+		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)	1229					B8X2Z3	Frame_Shift_Del	DEL	ENST00000334583.6	37	c.3685_3701delGCCGAAGGCAAGAGGAA	CCDS45513.1																																																																																				0.571	RLTPR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000467858.1	NM_001013838		7	48						7	48	---	---	---	---	-	67688799	GCCGAAGGCAAGAGGAA	-	67688783	7	5	291	1	0	1	0	1	0	0	0	0	13394	1319	46	0	3811	0	RLTPR	16	67688783	Frame_Shift_Del	DEL	GCCGAAGGCAAGAGGAA	TCGA-J9-A8CM-01A-11D-A34U-08	9970777	67688783	22665970	70	14075											
ADAMTS18	170692	broad.mit.edu	37	chr16	77396062	77396062	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaatcctgttagtaagatggCatgatcatgtctcttgccat	11	14	8	8	0	2	2	1	1	1	1	4	2	3	2	2	1	1	3	2	1	3	3			TCGA-J9-A8CM-01A-11D-A34U-08	TCGA-J9-A8CM-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a01318-edcd-41e8-8be5-95fbc01e1e7e	b7b750a0-fdaa-42a2-b583-989423ec1b45	g.chr16:77396062C>A	ENST00000282849.5	-	7	1574	c.1156G>T	c.(1156-1158)Gcc>Tcc	p.A386S		NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 18	386	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				eye development (GO:0001654)|negative regulation of platelet aggregation (GO:0090331)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						AGTAAGATGGCATGATCATGT	0.418																																						ENST00000282849.5																			0				NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						c.(1156-1158)Gcc>Tcc		ADAM metallopeptidase with thrombospondin type 1 motif, 18							157	132	140					16																	77396062		2198	4300	6498	SO:0001583	missense	170692				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr16:77396062C>A	AJ311903	CCDS10926.1	16q23	2008-07-29	2005-08-19		ENSG00000140873	ENSG00000140873		"ADAM metallopeptidases with thrombospondin type 1 motif"	17110	protein-coding gene	gene with protein product		607512	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 18"	ADAMTS21		11867212, 17546048	Standard	NM_199355		Approved		uc002ffc.4	Q8TE60	OTTHUMG00000137619	ENST00000282849.5:c.1156G>T	16.37:g.77396062C>A	ENSP00000282849:p.Ala386Ser						p.A386S	NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN			7	1574	-			386			Peptidase M12B.		Q6P4R5|Q6ZWJ9	Missense_Mutation	SNP	ENST00000282849.5	37	c.1156G>T	CCDS10926.1	.	.	.	.	.	.	.	.	.	.	C	28.5	4.926236	0.92319	.	.	ENSG00000140873	ENST00000282849	T	0.70869	-0.52	5.26	5.26	0.73747	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.000000	0.85682	D	0.000000	D	0.84777	0.5547	M	0.83312	2.635	0.80722	D	1	D	0.71674	0.998	D	0.67382	0.951	D	0.85696	0.1310	10	0.52906	T	0.07	.	18.0516	0.89351	0.0:1.0:0.0:0.0	.	386	Q8TE60	ATS18_HUMAN	S	386	ENSP00000282849:A386S	ENSP00000282849:A386S	A	-	1	0	ADAMTS18	75953563	1.000000	0.71417	0.984000	0.44739	0.972000	0.66771	7.604000	0.82830	2.733000	0.93635	0.655000	0.94253	GCC		0.418	ADAMTS18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269037.1			3	29	1	0	1	1	1	3	29					A	77396062	C	A	77396062	3	1	291	1	0	0	0	0	1	0	0	0	263	710	25	5	2577	5	ADAMTS18	16	77396062	Missense_Mutation	SNP	C	TCGA-J9-A8CM-01A-11D-A34U-08	9707279	77396062	12958691	71	14076											
CA5A	763	broad.mit.edu	37	chr16	87960438	87960438	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaggatgccgcttcataggAgaccctgagtggcttcagct	8	9	13	11	1	2	2	2	1	0	1	2	4	2	3	2	3	2	4	2	3	1	3			TCGA-J9-A8CM-01A-11D-A34U-08	TCGA-J9-A8CM-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a01318-edcd-41e8-8be5-95fbc01e1e7e	b7b750a0-fdaa-42a2-b583-989423ec1b45	g.chr16:87960438A>G	ENST00000309893.2	-	2	321	c.256T>C	c.(256-258)Tcc>Ccc	p.S86P	CA5A_ENST00000568801.1_5'UTR	NM_001739.1	NP_001730.1	P35218	CAH5A_HUMAN	carbonic anhydrase VA, mitochondrial	86					bicarbonate transport (GO:0015701)|one-carbon metabolic process (GO:0006730)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	carbonate dehydratase activity (GO:0004089)|zinc ion binding (GO:0008270)			large_intestine(4)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	16				BRCA - Breast invasive adenocarcinoma(80;0.0513)	Brinzolamide(DB01194)|Zonisamide(DB00909)	GCTTCATAGGAGACCCTGAGT	0.602																																						ENST00000309893.2																			0				large_intestine(4)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	16						c.(256-258)Tcc>Ccc		carbonic anhydrase VA, mitochondrial							69	62	64					16																	87960438		2198	4300	6498	SO:0001583	missense	763				one-carbon metabolic process	mitochondrial matrix	carbonate dehydratase activity|zinc ion binding	g.chr16:87960438A>G	L19297	CCDS10965.1	16q24.2	2012-08-21			ENSG00000174990	ENSG00000174990	4.2.1.1	"Carbonic anhydrases"	1377	protein-coding gene	gene with protein product		114761		CA5		8356065, 7490083	Standard	NM_001739		Approved	CAV, CAVA	uc002fkn.1	P35218	OTTHUMG00000137677	ENST00000309893.2:c.256T>C	16.37:g.87960438A>G	ENSP00000309649:p.Ser86Pro					CA5A_ENST00000568801.1_5'UTR	p.S86P	NM_001739.1	NP_001730.1	P35218	CAH5A_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0513)	2	321	-			86					B2RPF2	Missense_Mutation	SNP	ENST00000309893.2	37	c.256T>C	CCDS10965.1	.	.	.	.	.	.	.	.	.	.	A	9.057	0.993456	0.19043	.	.	ENSG00000174990	ENST00000309893	T	0.73152	-0.72	4.1	0.0138	0.14098	Carbonic anhydrase, alpha-class, catalytic domain (4);	0.983377	0.08326	N	0.963121	T	0.77994	0.4214	H	0.95437	3.67	0.19300	N	0.999973	D	0.60160	0.987	P	0.47603	0.551	T	0.67031	-0.5773	10	0.72032	D	0.01	-18.4699	0.9138	0.01300	0.3272:0.2954:0.1006:0.2769	.	86	P35218	CAH5A_HUMAN	P	86	ENSP00000309649:S86P	ENSP00000309649:S86P	S	-	1	0	CA5A	86517939	0.001000	0.12720	0.141000	0.22245	0.008000	0.06430	-0.134000	0.10436	0.032000	0.15435	-0.501000	0.04562	TCC		0.602	CA5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269164.1	NM_001739		11	17	0	0	0	1	0	11	17					G	87960438	A	G	87960438	3	3	291	1	0	0	0	0	1	0	0	0	2519	304	11	4	685	4	CA5A	16	87960438	Missense_Mutation	SNP	A	TCGA-J9-A8CM-01A-11D-A34U-08	10564376	87960438	2394315	72	14077											
NDEL1	81565	broad.mit.edu	37	chr17	8350176	8350176	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagcagttgcataagtatgtGagagagctggagcaggccaa	13	7	15	6	0	0	2	0	1	0	1	0	5	0	3	1	2	4	6	1	2	3	3			TCGA-J9-A8CM-01A-11D-A34U-08	TCGA-J9-A8CM-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a01318-edcd-41e8-8be5-95fbc01e1e7e	b7b750a0-fdaa-42a2-b583-989423ec1b45	g.chr17:8350176G>T	ENST00000334527.7	+	4	542	c.345G>T	c.(343-345)gtG>gtT	p.V115V	NDEL1_ENST00000585098.1_Intron|NDEL1_ENST00000402554.3_Silent_p.V115V|NDEL1_ENST00000380025.4_Silent_p.V115V|NDEL1_ENST00000299734.7_Silent_p.V115V	NM_030808.4	NP_110435.1	Q9GZM8	NDEL1_HUMAN	nudE neurodevelopment protein 1-like 1	115	Interaction with KATNB1. {ECO:0000250}.|Required for interaction with PAFAH1B1.|Self-association. {ECO:0000250}.				activation of Cdc42 GTPase activity (GO:0032864)|central nervous system neuron axonogenesis (GO:0021955)|centrosome localization (GO:0051642)|cerebral cortex radially oriented cell migration (GO:0021799)|chromosome segregation (GO:0007059)|inner cell mass cell proliferation (GO:0001833)|mitotic cell cycle (GO:0000278)|mitotic centrosome separation (GO:0007100)|neurofilament cytoskeleton organization (GO:0060052)|neuron migration (GO:0001764)|neuron projection extension (GO:1990138)|nuclear envelope disassembly (GO:0051081)|positive regulation of axon extension (GO:0045773)|positive regulation of axon regeneration (GO:0048680)|retrograde axon cargo transport (GO:0008090)|vesicle transport along microtubule (GO:0047496)	axon hillock (GO:0043203)|cell leading edge (GO:0031252)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|microtubule (GO:0005874)|neurofilament cytoskeleton (GO:0060053)|nuclear envelope (GO:0005635)|nucleolus (GO:0005730)	oligopeptidase activity (GO:0070012)			large_intestine(6)|lung(4)|skin(3)	13						ATAAGTATGTGAGAGAGCTGG	0.433																																						ENST00000334527.7																			0				large_intestine(6)|lung(4)|skin(3)	13						c.(343-345)gtG>gtT		nudE neurodevelopment protein 1-like 1							95	89	91					17																	8350176		2203	4300	6503	SO:0001819	synonymous_variant	81565				chromosome segregation|mitotic prometaphase	condensed chromosome kinetochore|cytosol|microtubule|spindle		g.chr17:8350176G>T	AF182078	CCDS11143.1, CCDS32564.1	17p13.1	2013-08-06	2013-08-06	2003-04-16	ENSG00000166579	ENSG00000166579			17620	protein-coding gene	gene with protein product		607538	"nudE nuclear distribution gene E homolog (A. nidulans)-like 1", "nudE nuclear distribution E homolog (A. nidulans)-like 1"			11163260, 11163259	Standard	NM_001025579		Approved	NUDEL, MITAP1, NDE1L1, NDE2	uc002glj.4	Q9GZM8	OTTHUMG00000108193	ENST00000334527.7:c.345G>T	17.37:g.8350176G>T						NDEL1_ENST00000585098.1_Intron|NDEL1_ENST00000402554.3_Silent_p.V115V|NDEL1_ENST00000299734.7_Silent_p.V115V|NDEL1_ENST00000380025.4_Silent_p.V115V	p.V115V	NM_030808.4	NP_110435.1	Q9GZM8	NDEL1_HUMAN			4	542	+			115			Interaction with KATNB1 (By similarity).|Required for interaction with PAFAH1B1.|Self-association (By similarity).		B3KP93|D3DTS0|J3QT32|Q86T80|Q8TAR7|Q9UH50	Silent	SNP	ENST00000334527.7	37	c.345G>T	CCDS11143.1																																																																																				0.433	NDEL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226999.2	NM_030808		9	26	1	0	3.09899e-07	1	3.49885e-07	9	26					T	8350176	G	T	8350176	2	4	291	1	0	0	0	0	0	0	0	1	10244	1277	45	5		5	NDEL1	17	8350176	Silent	SNP	G	TCGA-J9-A8CM-01A-11D-A34U-08		8350176	72845034	73	14078											
AOC3	8639	broad.mit.edu	37	chr17	41004623	41004623	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ttccttttggagtcccaggcCcccaagacaatacgtgatgc	9	10	9	13	1	0	2	0	1	0	1	2	3	2	3	4	2	2	0	4	2	3	4	rs141617446		TCGA-J9-A8CM-01A-11D-A34U-08	TCGA-J9-A8CM-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a01318-edcd-41e8-8be5-95fbc01e1e7e	b7b750a0-fdaa-42a2-b583-989423ec1b45	g.chr17:41004623C>G	ENST00000308423.2	+	1	1423	c.1263C>G	c.(1261-1263)gcC>gcG	p.A421A	AOC3_ENST00000591562.1_5'Flank	NM_003734.2	NP_003725.1	Q16853	AOC3_HUMAN	amine oxidase, copper containing 3	421					amine metabolic process (GO:0009308)|cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|cell adhesion (GO:0007155)|inflammatory response (GO:0006954)|response to antibiotic (GO:0046677)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	aliphatic-amine oxidase activity (GO:0052595)|aminoacetone:oxygen oxidoreductase(deaminating) activity (GO:0052594)|calcium ion binding (GO:0005509)|cation channel activity (GO:0005261)|copper ion binding (GO:0005507)|phenethylamine:oxygen oxidoreductase (deaminating) activity (GO:0052596)|primary amine oxidase activity (GO:0008131)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|quinone binding (GO:0048038)|tryptamine:oxygen oxidoreductase (deaminating) activity (GO:0052593)			breast(1)|central_nervous_system(4)|endometrium(4)|kidney(1)|large_intestine(8)|lung(14)|ovary(1)|skin(8)	41		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.156)	Hydralazine(DB01275)|Phenelzine(DB00780)	AGTCCCAGGCCCCCAAGACAA	0.592																																					NSCLC(3;192 220 10664 11501 16477)	ENST00000308423.2																			0				breast(1)|central_nervous_system(4)|endometrium(4)|kidney(1)|large_intestine(8)|lung(14)|ovary(1)|skin(8)	41						c.(1261-1263)gcC>gcG		amine oxidase, copper containing 3	Hydralazine(DB01275)|Phenelzine(DB00780)						84	75	78					17																	41004623		2203	4300	6503	SO:0001819	synonymous_variant	8639				amine metabolic process|cell adhesion|inflammatory response	cell surface|integral to membrane|plasma membrane	aliphatic-amine oxidase activity|aminoacetone:oxygen oxidoreductase(deaminating) activity|copper ion binding|phenethylamine:oxygen oxidoreductase (deaminating) activity|primary amine oxidase activity|protein homodimerization activity|quinone binding|tryptamine:oxygen oxidoreductase (deaminating) activity	g.chr17:41004623C>G	AF067406	CCDS11444.1, CCDS62198.1, CCDS74071.1	17q21	2013-05-08	2013-05-08			ENSG00000131471	1.4.3.21		550	protein-coding gene	gene with protein product	"vascular adhesion protein 1"	603735				9653080, 8972912	Standard	NM_003734		Approved	VAP1, HPAO, VAP-1	uc002ibv.4	Q16853		ENST00000308423.2:c.1263C>G	17.37:g.41004623C>G							p.A421A	NM_003734.2	NP_003725.1	Q16853	AOC3_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.156)	1	1423	+		Breast(137;0.000143)	421					B2RCI5|K7ESB3|L0L8N9|Q45F94	Silent	SNP	ENST00000308423.2	37	c.1263C>G	CCDS11444.1																																																																																				0.592	AOC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452444.1	NM_003734		7	32	0	0	0	1	0	7	32					G	41004623	C	G	41004623	2	3	291	1	0	0	0	0	0	0	0	1	728	610	22	5		5	AOC3	17	41004623	Silent	SNP	C	TCGA-J9-A8CM-01A-11D-A34U-08	32654447	41004623	40190587	74	14079											
PDK2	5164	broad.mit.edu	37	chr17	48182745	48182745	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccccacacaggtatgtccagAgcctcctggacatcatggag	10	7	10	14	0	1	1	1	0	0	1	3	3	3	3	5	3	1	1	5	3	1	1			TCGA-J9-A8CM-01A-11D-A34U-08	TCGA-J9-A8CM-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a01318-edcd-41e8-8be5-95fbc01e1e7e	b7b750a0-fdaa-42a2-b583-989423ec1b45	g.chr17:48182745A>C	ENST00000503176.1	+	3	432	c.271A>C	c.(271-273)Agc>Cgc	p.S91R	PDK2_ENST00000007708.3_Missense_Mutation_p.S27R	NM_002611.4	NP_002602.2	Q15119	PDK2_HUMAN	pyruvate dehydrogenase kinase, isozyme 2	91					cellular metabolic process (GO:0044237)|cellular response to nutrient (GO:0031670)|cellular response to reactive oxygen species (GO:0034614)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|insulin receptor signaling pathway (GO:0008286)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|protein phosphorylation (GO:0006468)|pyruvate metabolic process (GO:0006090)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|regulation of cellular ketone metabolic process (GO:0010565)|regulation of gluconeogenesis (GO:0006111)|regulation of glucose metabolic process (GO:0010906)|regulation of pH (GO:0006885)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|mitochondrial pyruvate dehydrogenase complex (GO:0005967)	ATP binding (GO:0005524)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|pyruvate dehydrogenase (acetyl-transferring) kinase activity (GO:0004740)	p.S91C(1)		central_nervous_system(4)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	20						GTATGTCCAGAGCCTCCTGGA	0.622									Autosomal Dominant Polycystic Kidney Disease																													ENST00000503176.1																			1	Substitution - Missense(1)	p.S91C(1)	lung(1)	central_nervous_system(4)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	20						c.(271-273)Agc>Cgc		pyruvate dehydrogenase kinase, isozyme 2							31	29	30					17																	48182745		2203	4300	6503	SO:0001583	missense	5164	Autosomal Dominant Polycystic Kidney Disease	Familial Cancer Database	ADPKD	glucose metabolic process|peptidyl-histidine phosphorylation|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix|nucleus	ATP binding|pyruvate dehydrogenase (acetyl-transferring) kinase activity|two-component sensor activity	g.chr17:48182745A>C	L42451	CCDS11559.1, CCDS56039.1	17q21.33	2012-07-18	2005-11-16		ENSG00000005882	ENSG00000005882			8810	protein-coding gene	gene with protein product		602525	"pyruvate dehydrogenase kinase, isoenzyme 2"			7499431	Standard	NM_001199898		Approved	PDHK2	uc002iqc.3	Q15119	OTTHUMG00000161948	ENST00000503176.1:c.271A>C	17.37:g.48182745A>C	ENSP00000420927:p.Ser91Arg					PDK2_ENST00000007708.3_Missense_Mutation_p.S27R	p.S91R	NM_002611.4	NP_002602.2	Q15119	PDK2_HUMAN			3	432	+			91					A8K3A7|B3KNW0|Q6P515|Q9BS05	Missense_Mutation	SNP	ENST00000503176.1	37	c.271A>C	CCDS11559.1	.	.	.	.	.	.	.	.	.	.	A	23.5	4.422588	0.83559	.	.	ENSG00000005882	ENST00000007708;ENST00000508030;ENST00000503176;ENST00000503614;ENST00000505440;ENST00000512238	T;T;T;T;T;T	0.47869	0.83;0.83;0.83;0.83;0.83;0.83	4.67	4.67	0.58626	Branched-chain alpha-ketoacid dehydrogenase kinase/Pyruvate dehydrogenase kinase, N-terminal (3);	0.000000	0.85682	D	0.000000	T	0.78104	0.4231	H	0.96861	3.895	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.85342	0.1096	10	0.87932	D	0	-13.9741	13.0693	0.59050	1.0:0.0:0.0:0.0	.	91	Q15119	PDK2_HUMAN	R	27;27;91;27;27;27	ENSP00000007708:S27R;ENSP00000427682:S27R;ENSP00000420927:S91R;ENSP00000425265:S27R;ENSP00000425615:S27R;ENSP00000421178:S27R	ENSP00000007708:S27R	S	+	1	0	PDK2	45537744	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	4.819000	0.62664	1.739000	0.51704	0.379000	0.24179	AGC		0.622	PDK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366492.2	NM_002611		7	17	0	0	0	1	0	7	17					C	48182745	A	C	48182745	3	2	291	1	0	0	0	0	1	0	0	0	11676	304	11	5	281	5	PDK2	17	48182745	Missense_Mutation	SNP	A	TCGA-J9-A8CM-01A-11D-A34U-08	7178122	48182745	33012465	75	14080											
MRC2	9902	broad.mit.edu	37	chr17	60765674	60765674	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ttcaggtccagggccaggaaCcccagagccgggtgaagtgg	9	5	16	11	1	1	2	1	1	0	1	2	3	2	3	5	5	2	0	5	5	2	1			TCGA-J9-A8CM-01A-11D-A34U-08	TCGA-J9-A8CM-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a01318-edcd-41e8-8be5-95fbc01e1e7e	b7b750a0-fdaa-42a2-b583-989423ec1b45	g.chr17:60765674C>T	ENST00000303375.5	+	21	3373	c.2971C>T	c.(2971-2973)Ccc>Tcc	p.P991S	MRC2_ENST00000446119.2_5'UTR	NM_006039.4	NP_006030.2	Q9UBG0	MRC2_HUMAN	mannose receptor, C type 2	991	C-type lectin 6. {ECO:0000255|PROSITE- ProRule:PRU00040}.				collagen catabolic process (GO:0030574)|endocytosis (GO:0006897)|osteoblast differentiation (GO:0001649)	focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)|collagen binding (GO:0005518)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(11)|lung(28)|ovary(2)|prostate(1)|skin(3)	53						GGGCCAGGAACCCCAGAGCCG	0.607																																						ENST00000303375.5																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(11)|lung(28)|ovary(2)|prostate(1)|skin(3)	53						c.(2971-2973)Ccc>Tcc		mannose receptor, C type 2							43	37	39					17																	60765674		2203	4300	6503	SO:0001583	missense	9902				endocytosis	integral to membrane	receptor activity|sugar binding	g.chr17:60765674C>T	AB014609	CCDS11634.1	17q23	2011-08-30				ENSG00000011028		"CD molecules", "C-type lectin domain containing"	16875	protein-coding gene	gene with protein product		612264				9734811, 8702911	Standard	NM_006039		Approved	KIAA0709, ENDO180, CLEC13E, CD280	uc002jad.4	Q9UBG0		ENST00000303375.5:c.2971C>T	17.37:g.60765674C>T	ENSP00000307513:p.Pro991Ser					MRC2_ENST00000446119.2_5'UTR	p.P991S	NM_006039.4	NP_006030.2	Q9UBG0	MRC2_HUMAN			21	3373	+			991			C-type lectin 6.		A6H8K4|D3DU08|Q7LGE7|Q9Y5P9	Missense_Mutation	SNP	ENST00000303375.5	37	c.2971C>T	CCDS11634.1	.	.	.	.	.	.	.	.	.	.	C	10.50	1.367846	0.24771	.	.	ENSG00000011028	ENST00000303375	T	0.06371	3.31	4.96	3.99	0.46301	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (2);	0.324093	0.33005	N	0.005383	T	0.05318	0.0141	L	0.57536	1.79	0.80722	D	1	P	0.38922	0.651	B	0.24974	0.057	T	0.41502	-0.9505	10	0.13108	T	0.6	-22.2988	9.2662	0.37643	0.0:0.8989:0.0:0.1011	.	991	Q9UBG0	MRC2_HUMAN	S	991	ENSP00000307513:P991S	ENSP00000307513:P991S	P	+	1	0	MRC2	58119406	1.000000	0.71417	1.000000	0.80357	0.193000	0.23685	2.287000	0.43505	1.071000	0.40834	0.561000	0.74099	CCC		0.607	MRC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445152.1			8	23	0	0	0	1	0	8	23					T	60765674	C	T	60765674	3	4	291	1	0	0	0	0	1	0	0	0	9758	507	18	3	3053	3	MRC2	17	60765674	Missense_Mutation	SNP	C	TCGA-J9-A8CM-01A-11D-A34U-08	12582929	60765674	20429536	76	14081											
ZSWIM4	65249	broad.mit.edu	37	chr19	13919900	13919900	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	acaggtgcgggagatgctgcGaatgcgggactccaacgggg	9	5	18	9	4	0	1	0	0	0	1	1	4	1	2	1	5	5	1	1	5	2	0			TCGA-J9-A8CM-01A-11D-A34U-08	TCGA-J9-A8CM-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a01318-edcd-41e8-8be5-95fbc01e1e7e	b7b750a0-fdaa-42a2-b583-989423ec1b45	g.chr19:13919900G>A	ENST00000254323.2	+	5	1067	c.878G>A	c.(877-879)cGa>cAa	p.R293Q	ZSWIM4_ENST00000440752.2_Missense_Mutation_p.R10Q	NM_023072.2	NP_075560.2	Q9H7M6	ZSWM4_HUMAN	zinc finger, SWIM-type containing 4	293							zinc ion binding (GO:0008270)			central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27			OV - Ovarian serous cystadenocarcinoma(19;2.94e-23)|Epithelial(5;4.58e-19)			GAGATGCTGCGAATGCGGGAC	0.731																																						ENST00000254323.2																			0				central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27						c.(877-879)cGa>cAa		zinc finger, SWIM-type containing 4							36	40	39					19																	13919900		2203	4300	6503	SO:0001583	missense	65249						zinc ion binding	g.chr19:13919900G>A	AK022283	CCDS32924.1	19p13.13	2012-02-23			ENSG00000132003	ENSG00000132003		"Zinc fingers, SWIM-type"	25704	protein-coding gene	gene with protein product							Standard	NM_023072		Approved	FLJ12221	uc002mxh.1	Q9H7M6		ENST00000254323.2:c.878G>A	19.37:g.13919900G>A	ENSP00000254323:p.Arg293Gln					ZSWIM4_ENST00000440752.2_Missense_Mutation_p.R10Q	p.R293Q	NM_023072.2	NP_075560.2	Q9H7M6	ZSWM4_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;2.94e-23)|Epithelial(5;4.58e-19)		5	1067	+			293						Missense_Mutation	SNP	ENST00000254323.2	37	c.878G>A	CCDS32924.1	.	.	.	.	.	.	.	.	.	.	G	20.5	3.998042	0.74818	.	.	ENSG00000132003	ENST00000254323;ENST00000440752	T;T	0.52526	0.97;0.66	4.38	3.34	0.38264	.	0.150151	0.28052	U	0.016786	T	0.58409	0.2120	M	0.76002	2.32	0.25157	N	0.990386	D;P	0.67145	0.996;0.953	P;B	0.56788	0.806;0.444	T	0.50923	-0.8770	10	0.49607	T	0.09	-2.84	9.2963	0.37817	0.1082:0.0:0.8918:0.0	.	10;293	E7ERX2;Q9H7M6	.;ZSWM4_HUMAN	Q	293;10	ENSP00000254323:R293Q;ENSP00000405278:R10Q	ENSP00000254323:R293Q	R	+	2	0	ZSWIM4	13780900	0.899000	0.30636	0.796000	0.32109	0.683000	0.39861	3.278000	0.51662	1.994000	0.58287	0.185000	0.17295	CGA		0.731	ZSWIM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457457.1	XM_031342		17	33	0	0	0	1	0	17	33					A	13919900	G	A	13919900	3	1	291	1	0	0	0	0	1	0	0	0	18240	1058	37	2	896	2	ZSWIM4	19	13919900	Missense_Mutation	SNP	G	TCGA-J9-A8CM-01A-11D-A34U-08		13919900	45209083	77	14082											
EXOSC5	56915	broad.mit.edu	37	chr19	41897754	41897754	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagaaaggatacagagccggCatcgctgacaacctgcagca	14	4	11	12	2	0	3	0	1	0	2	1	4	0	4	2	2	5	4	2	2	3	1			TCGA-J9-A8CM-01A-11D-A34U-08	TCGA-J9-A8CM-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a01318-edcd-41e8-8be5-95fbc01e1e7e	b7b750a0-fdaa-42a2-b583-989423ec1b45	g.chr19:41897754C>T	ENST00000221233.4	-	3	526	c.376G>A	c.(376-378)Gcc>Acc	p.A126T	EXOSC5_ENST00000596905.1_Missense_Mutation_p.A88T|CTC-435M10.3_ENST00000604424.1_Intron|BCKDHA_ENST00000595085.1_Intron|CTC-435M10.3_ENST00000540732.1_Intron	NM_020158.3	NP_064543.3	Q9NQT4	EXOS5_HUMAN	exosome component 5	126					defense response to virus (GO:0051607)|DNA deamination (GO:0045006)|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|exosome (RNase complex) (GO:0000178)|nucleolus (GO:0005730)|transcriptionally active chromatin (GO:0035327)	3'-5'-exoribonuclease activity (GO:0000175)|RNA binding (GO:0003723)			endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|urinary_tract(1)	7						ACAGAGCCGGCATCGCTGACA	0.622																																						ENST00000221233.4																			0				endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|urinary_tract(1)	7						c.(376-378)Gcc>Acc		exosome component 5							72	66	68					19																	41897754		2203	4300	6503	SO:0001583	missense	56915				DNA deamination|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|rRNA processing	cytosol|exosome (RNase complex)|nucleolus|transcriptionally active chromatin	3'-5'-exoribonuclease activity|protein binding|RNA binding	g.chr19:41897754C>T	AF285785	CCDS12580.1	19q13.1	2008-02-05				ENSG00000077348			24662	protein-coding gene	gene with protein product	"exosome component Rrp46"	606492				11110791, 11812149	Standard	NM_020158		Approved	hRrp46p, Rrp46p, RRP46, RRP41B, MGC12901, p12B	uc002oqo.3	Q9NQT4		ENST00000221233.4:c.376G>A	19.37:g.41897754C>T	ENSP00000221233:p.Ala126Thr					EXOSC5_ENST00000596905.1_Missense_Mutation_p.A88T|BCKDHA_ENST00000595085.1_Intron|CTC-435M10.3_ENST00000540732.1_Intron	p.A126T	NM_020158.3	NP_064543.3	Q9NQT4	EXOS5_HUMAN			3	526	-			126					Q32Q81|Q8NG16|Q96I89	Missense_Mutation	SNP	ENST00000221233.4	37	c.376G>A	CCDS12580.1	.	.	.	.	.	.	.	.	.	.	C	11.85	1.761152	0.31137	.	.	ENSG00000077348	ENST00000221233	T	0.62941	-0.01	5.35	2.95	0.34219	Ribosomal protein S5 domain 2-type fold (1);Exoribonuclease, phosphorolytic domain 1 (1);	0.221935	0.45361	N	0.000372	T	0.47948	0.1473	L	0.36672	1.1	0.35115	D	0.766503	B	0.06786	0.001	B	0.08055	0.003	T	0.49551	-0.8928	10	0.27785	T	0.31	-5.0933	9.6797	0.40063	0.0:0.8006:0.0:0.1994	.	126	Q9NQT4	EXOS5_HUMAN	T	126	ENSP00000221233:A126T	ENSP00000221233:A126T	A	-	1	0	EXOSC5	46589594	1.000000	0.71417	0.988000	0.46212	0.934000	0.57294	3.464000	0.53057	0.616000	0.30141	0.655000	0.94253	GCC		0.622	EXOSC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463492.1	NM_020158		14	29	0	0	0	1	0	14	29					T	41897754	C	T	41897754	3	4	291	1	0	0	0	0	1	0	0	0	5318	710	25	3	347	3	EXOSC5	19	41897754	Missense_Mutation	SNP	C	TCGA-J9-A8CM-01A-11D-A34U-08	27977854	41897754	17231229	78	14083											
SIGLEC8	27181	broad.mit.edu	37	chr19	51958791	51958791	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ctcgaggcagctccagcagcCcagggtttgaggaccgtgag	8	6	15	12	2	0	2	0	2	0	0	2	4	1	3	3	3	3	4	3	3	0	1			TCGA-J9-A8CM-01A-11D-A34U-08	TCGA-J9-A8CM-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a01318-edcd-41e8-8be5-95fbc01e1e7e	b7b750a0-fdaa-42a2-b583-989423ec1b45	g.chr19:51958791C>T	ENST00000321424.3	-	4	998	c.932G>A	c.(931-933)gGg>gAg	p.G311E	SIGLEC8_ENST00000340550.5_Missense_Mutation_p.G218E|SIGLEC8_ENST00000597352.1_5'UTR|SIGLEC8_ENST00000430817.1_Missense_Mutation_p.G202E	NM_014442.2	NP_055257.2	Q9NYZ4	SIGL8_HUMAN	sialic acid binding Ig-like lectin 8	311	Ig-like C2-type 2.				cell adhesion (GO:0007155)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(11)|liver(3)|lung(15)|ovary(2)|skin(4)|stomach(3)|urinary_tract(2)	50		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000627)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		CTCCAGCAGCCCAGGGTTTGA	0.642																																						ENST00000321424.3																			0				NS(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(11)|liver(3)|lung(15)|ovary(2)|skin(4)|stomach(3)|urinary_tract(2)	50						c.(931-933)gGg>gAg		sialic acid binding Ig-like lectin 8							47	45	46					19																	51958791		2203	4300	6503	SO:0001583	missense	27181				cell adhesion	integral to membrane	sugar binding|transmembrane receptor activity	g.chr19:51958791C>T	AF195092	CCDS33086.1	19q13.33-q13.41	2013-01-29			ENSG00000105366	ENSG00000105366		"Sialic acid binding Ig-like lectins", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	10877	protein-coding gene	gene with protein product		605639				10625619	Standard	XR_243922		Approved	SIGLEC-8, SAF2, SIGLEC8L, MGC59785	uc002pwt.3	Q9NYZ4		ENST00000321424.3:c.932G>A	19.37:g.51958791C>T	ENSP00000321077:p.Gly311Glu					SIGLEC8_ENST00000430817.1_Missense_Mutation_p.G202E|SIGLEC8_ENST00000340550.5_Missense_Mutation_p.G218E	p.G311E	NM_014442.2	NP_055257.2	Q9NYZ4	SIGL8_HUMAN		GBM - Glioblastoma multiforme(134;0.000627)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)	4	998	-		all_neural(266;0.0199)	311			Ig-like C2-type 2.		Q7Z728	Missense_Mutation	SNP	ENST00000321424.3	37	c.932G>A	CCDS33086.1	.	.	.	.	.	.	.	.	.	.	.	11.45	1.643027	0.29246	.	.	ENSG00000105366	ENST00000430817;ENST00000321424;ENST00000340550	T;T;T	0.24538	1.85;1.85;1.85	2.19	-1.8	0.07907	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.196964	0.24937	N	0.034403	T	0.31979	0.0814	M	0.82193	2.58	0.09310	N	1	P;P;P	0.49185	0.92;0.866;0.494	P;P;B	0.53006	0.715;0.461;0.314	T	0.17167	-1.0378	10	0.30854	T	0.27	.	0.8358	0.01140	0.2387:0.3661:0.235:0.1601	.	202;218;311	C9JT30;Q9NYZ4-2;Q9NYZ4	.;.;SIGL8_HUMAN	E	202;311;218	ENSP00000389142:G202E;ENSP00000321077:G311E;ENSP00000339448:G218E	ENSP00000321077:G311E	G	-	2	0	SIGLEC8	56650603	0.011000	0.17503	0.000000	0.03702	0.001000	0.01503	0.943000	0.29030	-0.307000	0.08804	-0.457000	0.05445	GGG		0.642	SIGLEC8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463648.2	NM_014442		11	28	0	0	0	1	0	11	28					T	51958791	C	T	51958791	3	4	291	1	0	0	0	0	1	0	0	0	14314	623	22	3	583	3	SIGLEC8	19	51958791	Missense_Mutation	SNP	C	TCGA-J9-A8CM-01A-11D-A34U-08	10061037	51958791	7170192	79	14084											
MYLK2	85366	broad.mit.edu	37	chr20	30418922	30418922	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ataagacagacatgtggagtAtgggggtgatcacctacatg	13	9	13	6	0	1	3	1	1	0	2	1	4	1	4	1	3	1	1	1	3	3	3			TCGA-J9-A8CM-01A-11D-A34U-08	TCGA-J9-A8CM-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a01318-edcd-41e8-8be5-95fbc01e1e7e	b7b750a0-fdaa-42a2-b583-989423ec1b45	g.chr20:30418922A>G	ENST00000375994.2	+	9	1675	c.1402A>G	c.(1402-1404)Atg>Gtg	p.M468V	MYLK2_ENST00000468730.1_3'UTR|MYLK2_ENST00000375985.4_Missense_Mutation_p.M468V			Q9H1R3	MYLK2_HUMAN	myosin light chain kinase 2	468	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cardiac muscle contraction (GO:0060048)|cardiac muscle tissue morphogenesis (GO:0055008)|neuromuscular synaptic transmission (GO:0007274)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of gene expression (GO:0010628)|protein autophosphorylation (GO:0046777)|regulation of muscle filament sliding (GO:0032971)|skeletal muscle cell differentiation (GO:0035914)|skeletal muscle satellite cell differentiation (GO:0014816)|striated muscle contraction (GO:0006941)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|calmodulin-dependent protein kinase activity (GO:0004683)|myosin light chain kinase activity (GO:0004687)			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	33			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			CATGTGGAGTATGGGGGTGAT	0.572																																						ENST00000375994.2																			0				NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	33						c.(1402-1404)Atg>Gtg		myosin light chain kinase 2							103	102	103					20																	30418922		2203	4300	6503	SO:0001583	missense	85366				cardiac muscle tissue morphogenesis|regulation of muscle filament sliding		ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity	g.chr20:30418922A>G	AF325549	CCDS13191.1	20q13.31	2014-09-17	2008-01-23		ENSG00000101306	ENSG00000101306	2.7.11.18		16243	protein-coding gene	gene with protein product	"skeletal muscle myosin light chain kinase"	606566	"myosin light chain kinase 2, skeletal muscle"				Standard	NM_033118		Approved	skMLCK, KMLC, MLCK2	uc002wwq.2	Q9H1R3	OTTHUMG00000032194	ENST00000375994.2:c.1402A>G	20.37:g.30418922A>G	ENSP00000365162:p.Met468Val					MYLK2_ENST00000375985.4_Missense_Mutation_p.M468V|MYLK2_ENST00000468730.1_3'UTR	p.M468V			Q9H1R3	MYLK2_HUMAN	Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)		9	1675	+			468			Protein kinase.		Q569L1|Q96I84	Missense_Mutation	SNP	ENST00000375994.2	37	c.1402A>G	CCDS13191.1	.	.	.	.	.	.	.	.	.	.	A	0.018	-1.468719	0.01053	.	.	ENSG00000101306	ENST00000375994;ENST00000375985	T;T	0.37235	1.21;1.21	3.94	-3.96	0.04106	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	.	.	.	.	T	0.06600	0.0169	N	0.00450	-1.49	0.20563	N	0.999883	B	0.10296	0.003	B	0.08055	0.003	T	0.28332	-1.0047	9	0.02654	T	1	.	4.0024	0.09585	0.2848:0.5054:0.0857:0.1241	.	468	Q9H1R3	MYLK2_HUMAN	V	468	ENSP00000365162:M468V;ENSP00000365152:M468V	ENSP00000365152:M468V	M	+	1	0	MYLK2	29882583	0.010000	0.17322	0.395000	0.26283	0.954000	0.61252	0.291000	0.18994	-0.906000	0.03866	-0.418000	0.06021	ATG		0.572	MYLK2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078583.2	NM_033118		23	42	0	0	0	1	0	23	42					G	30418922	A	G	30418922	3	3	291	1	0	0	0	0	1	0	0	0	10057	449	16	4	1436	4	MYLK2	20	30418922	Missense_Mutation	SNP	A	TCGA-J9-A8CM-01A-11D-A34U-08		30418922	32606598	80	14085											
FAM83C	128876	broad.mit.edu	37	chr20	33875275	33875275	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	accccactgccaaggttaagGggctggtactattatggttg	9	11	12	9	0	0	0	0	0	0	0	0	0	0	0	3	5	2	4	3	5	5	5			TCGA-J9-A8CM-01A-11D-A34U-08	TCGA-J9-A8CM-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a01318-edcd-41e8-8be5-95fbc01e1e7e	b7b750a0-fdaa-42a2-b583-989423ec1b45	g.chr20:33875275G>T	ENST00000374408.3	-	4	1403	c.1307C>A	c.(1306-1308)cCc>cAc	p.P436H	EIF6_ENST00000374443.3_5'Flank|EIF6_ENST00000462894.1_5'Flank|EIF6_ENST00000374450.3_5'Flank|EIF6_ENST00000374436.3_5'Flank|FAM83C-AS1_ENST00000429167.1_RNA	NM_178468.5	NP_848563.1	Q9BQN1	FA83C_HUMAN	family with sequence similarity 83, member C	436										central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(18;0.00252)			CAAGGTTAAGGGGCTGGTACT	0.632																																						ENST00000374408.3																			0				central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						c.(1306-1308)cCc>cAc		family with sequence similarity 83, member C							64	54	57					20																	33875275		2203	4300	6503	SO:0001583	missense	128876							g.chr20:33875275G>T	AL121753	CCDS13251.1	20q11.22	2011-04-01	2006-03-23	2006-03-23	ENSG00000125998	ENSG00000125998			16121	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 128"	C20orf128			Standard	NM_178468		Approved	dJ614O4.7	uc021wck.1	Q9BQN1	OTTHUMG00000032332	ENST00000374408.3:c.1307C>A	20.37:g.33875275G>T	ENSP00000363529:p.Pro436His						p.P436H	NM_178468.5	NP_848563.1	Q9BQN1	FA83C_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.00252)		4	1403	-			436					Q14D67|Q5JWN6|Q8N276	Missense_Mutation	SNP	ENST00000374408.3	37	c.1307C>A	CCDS13251.1	.	.	.	.	.	.	.	.	.	.	G	17.54	3.414784	0.62511	.	.	ENSG00000125998	ENST00000374408	T	0.10005	2.92	4.81	4.81	0.61882	.	0.266028	0.25166	N	0.032630	T	0.26846	0.0657	M	0.72353	2.195	0.33186	D	0.550153	D	0.69078	0.997	P	0.58013	0.831	T	0.36065	-0.9763	10	0.66056	D	0.02	-19.531	13.7372	0.62824	0.0:0.0:1.0:0.0	.	436	Q9BQN1	FA83C_HUMAN	H	436	ENSP00000363529:P436H	ENSP00000363529:P436H	P	-	2	0	FAM83C	33338689	0.997000	0.39634	0.979000	0.43373	0.732000	0.41865	3.787000	0.55439	2.403000	0.81681	0.561000	0.74099	CCC		0.632	FAM83C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078854.3			8	20	1	0	0.000274275	1	0.000290898	8	20					T	33875275	G	T	33875275	3	4	291	1	0	0	0	0	1	0	0	0	5635	1232	43	5	940	5	FAM83C	20	33875275	Missense_Mutation	SNP	G	TCGA-J9-A8CM-01A-11D-A34U-08	3456353	33875275	29150245	81	14086											
RPRD1B	58490	broad.mit.edu	37	chr20	36686047	36686047	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cttctgcaggacccctcttgGtaggtcttgacccccagaga	7	10	10	14	0	3	2	0	1	3	1	3	4	3	3	4	3	1	2	4	3	1	4			TCGA-J9-A8CM-01A-11D-A34U-08	TCGA-J9-A8CM-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a01318-edcd-41e8-8be5-95fbc01e1e7e	b7b750a0-fdaa-42a2-b583-989423ec1b45	g.chr20:36686047G>T	ENST00000373433.4	+	4	930		c.e4+1			NM_021215.3	NP_067038.1	Q9NQG5	RPR1B_HUMAN	regulation of nuclear pre-mRNA domain containing 1B						dephosphorylation of RNA polymerase II C-terminal domain (GO:0070940)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell cycle process (GO:0010564)|transcription, DNA-templated (GO:0006351)	DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|nucleus (GO:0005634)	RNA polymerase II core binding (GO:0000993)			endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|skin(1)	12						ACCCCTCTTGGTAGGTCTTGA	0.517											OREG0025919	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000373433.4																			0				endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|skin(1)	12						c.e4+1		regulation of nuclear pre-mRNA domain containing 1B							66	62	63					20																	36686047		2203	4300	6503	SO:0001630	splice_region_variant	58490							g.chr20:36686047G>T	AL109823	CCDS13301.1	20q11.21-q12	2012-02-09	2008-08-15	2008-07-28	ENSG00000101413	ENSG00000101413			16209	protein-coding gene	gene with protein product		614694	"chromosome 20 open reading frame 77"	C20orf77		22231121	Standard	NM_021215		Approved	dJ1057B20.2, DKFZp434P0735, CREPT, FLJ44520, NET60	uc002xho.4	Q9NQG5	OTTHUMG00000032434	ENST00000373433.4:c.528+1G>T	20.37:g.36686047G>T			OREG0025919	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	864			NM_021215.3	NP_067038.1	Q9NQG5	RPR1B_HUMAN			4	930	+								Q1WDE7|Q6PKF4	Splice_Site	SNP	ENST00000373433.4	37		CCDS13301.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.226763	0.79576	.	.	ENSG00000101413	ENST00000373433;ENST00000449186	.	.	.	5.16	5.16	0.70880	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.8161	0.88634	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	RPRD1B	36119461	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	6.659000	0.74412	2.676000	0.91093	0.655000	0.94253	.		0.517	RPRD1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079142.2	NM_021215	Intron	7	12	1	0	8.12818e-05	1	8.79855e-05	7	12					T	36686047	G	T	36686047	5	4	291	1	0	0	0	0	0	0	1	0	13616	1275	44	5	543	5	RPRD1B	20	36686047	Splice_Site	SNP	G	TCGA-J9-A8CM-01A-11D-A34U-08	2810772	36686047	26339473	82	14087											
POTEH	23784	broad.mit.edu	37	chr22	16287429	16287429	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtctccccaagggcccacttTgttcttgccgctccccctgc	3	11	8	19	1	2	0	0	0	2	0	4	0	3	0	6	1	2	2	6	1	1	3			TCGA-J9-A8CM-01A-11D-A34U-08	TCGA-J9-A8CM-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a01318-edcd-41e8-8be5-95fbc01e1e7e	b7b750a0-fdaa-42a2-b583-989423ec1b45	g.chr22:16287429T>G	ENST00000343518.6	-	1	508	c.457A>C	c.(457-459)Aaa>Caa	p.K153Q		NM_001136213.1	NP_001129685.1	Q6S545	POTEH_HUMAN	POTE ankyrin domain family, member H	153										NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2)	37						GGGCCCACTTTGTTCTTGCCG	0.592																																						ENST00000343518.6																			0				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2)	37						c.(457-459)Aaa>Caa		POTE ankyrin domain family, member H							179	189	185					22																	16287429		2039	3910	5949	SO:0001583	missense	23784							g.chr22:16287429T>G	AY462874	CCDS74808.1	22q11.1	2013-01-10	2008-11-26	2008-11-26	ENSG00000198062	ENSG00000198062		"POTE ankyrin domain containing", "Ankyrin repeat domain containing"	133	protein-coding gene	gene with protein product	"cancer/testis antigen family 104, member 7"	608913	"actin, beta-like 1", "ANKRD26-like family C, member 3"	ACTBL1, A26C3		10591208, 15276201, 21439273	Standard	NM_001136213		Approved	POTE22, CT104.7	uc010gqp.2	Q6S545	OTTHUMG00000140314	ENST00000343518.6:c.457A>C	22.37:g.16287429T>G	ENSP00000340610:p.Lys153Gln						p.K153Q	NM_001136213.1	NP_001129685.1	Q6S545	POTEH_HUMAN			1	508	-			153					A2CEK4|A6NCI1|A9Z1W0	Missense_Mutation	SNP	ENST00000343518.6	37	c.457A>C	CCDS46658.1	.	.	.	.	.	.	.	.	.	.	.	9.360	1.067665	0.20067	.	.	ENSG00000198062	ENST00000359587;ENST00000343518;ENST00000355872	T	0.26067	1.76	0.554	0.554	0.17241	.	.	.	.	.	T	0.09949	0.0244	N	0.08118	0	0.09310	N	1	B	0.33413	0.411	B	0.29353	0.101	T	0.31586	-0.9938	8	0.16420	T	0.52	.	.	.	.	.	153	Q6S545	POTEH_HUMAN	Q	116;153;153	ENSP00000340610:K153Q	ENSP00000340610:K153Q	K	-	1	0	POTEH	14667429	0.000000	0.05858	0.002000	0.10522	0.029000	0.11900	-1.450000	0.02390	0.486000	0.27676	0.128000	0.15822	AAA		0.592	POTEH-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000276918.4	NM_001136213		43	117	0	0	0	1	0	43	117					G	16287429	T	G	16287429	3	3	291	1	0	0	0	0	1	0	0	0	12267	1821	63	5	1220	5	POTEH	22	16287429	Missense_Mutation	SNP	T	TCGA-J9-A8CM-01A-11D-A34U-08		16287429	35017137	83	14088											
BAIAP2L2	80115	broad.mit.edu	37	chr22	38494424	38494424	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gaggccagactcactttgatGaactgcatgtccagcttggt	9	11	11	10	0	1	3	1	2	0	1	2	4	2	3	2	2	3	2	2	2	1	2			TCGA-J9-A8CM-01A-11D-A34U-08	TCGA-J9-A8CM-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a01318-edcd-41e8-8be5-95fbc01e1e7e	b7b750a0-fdaa-42a2-b583-989423ec1b45	g.chr22:38494424G>A	ENST00000381669.3	-	5	486	c.342C>T	c.(340-342)ttC>ttT	p.F114F	BAIAP2L2_ENST00000332536.5_Silent_p.F114F	NM_025045.4	NP_079321.3	Q6UXY1	BI2L2_HUMAN	BAI1-associated protein 2-like 2	114	IMD. {ECO:0000255|PROSITE- ProRule:PRU00668}.				filopodium assembly (GO:0046847)|membrane organization (GO:0061024)|regulation of actin cytoskeleton organization (GO:0032956)|signal transduction (GO:0007165)	cell-cell contact zone (GO:0044291)|cytoplasmic vesicle (GO:0031410)|plasma membrane (GO:0005886)|vesicle membrane (GO:0012506)	phospholipid binding (GO:0005543)			large_intestine(2)|lung(1)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)	8	Melanoma(58;0.045)					TCACTTTGATGAACTGCATGT	0.597											OREG0026556	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000381669.3																			0				large_intestine(2)|lung(1)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)	8						c.(340-342)ttC>ttT		BAI1-associated protein 2-like 2							95	100	98					22																	38494424		2077	4204	6281	SO:0001819	synonymous_variant	80115				filopodium assembly|signal transduction		cytoskeletal adaptor activity|SH3 domain binding	g.chr22:38494424G>A	BC015619	CCDS43018.1	22q13.1	2005-02-09			ENSG00000128298	ENSG00000128298			26203	protein-coding gene	gene with protein product							Standard	NM_025045		Approved	FLJ22582	uc003auw.3	Q6UXY1	OTTHUMG00000151197	ENST00000381669.3:c.342C>T	22.37:g.38494424G>A			OREG0026556	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	878	BAIAP2L2_ENST00000332536.5_Silent_p.F114F	p.F114F	NM_025045.4	NP_079321.3	Q6UXY1	BI2L2_HUMAN			5	486	-	Melanoma(58;0.045)		114			IMD.		B0QYE2|Q96BG7	Silent	SNP	ENST00000381669.3	37	c.342C>T	CCDS43018.1																																																																																				0.597	BAIAP2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321727.1	NM_025045		8	39	0	0	0	1	0	8	39					A	38494424	G	A	38494424	2	1	291	1	0	0	0	0	0	0	0	1	1303	1281	45	3		3	BAIAP2L2	22	38494424	Silent	SNP	G	TCGA-J9-A8CM-01A-11D-A34U-08	22206995	38494424	12810142	84	14089											
SHANK3	85358	broad.mit.edu	37	chr22	51117489	51117489	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cacctgactacaaggacagcCgcggcttgacacccctctac	10	6	8	17	2	1	2	0	2	1	0	1	3	1	3	4	2	3	1	4	2	3	3			TCGA-J9-A8CM-01A-11D-A34U-08	TCGA-J9-A8CM-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a01318-edcd-41e8-8be5-95fbc01e1e7e	b7b750a0-fdaa-42a2-b583-989423ec1b45	g.chr22:51117489C>T	ENST00000414786.2	+	6	870	c.643C>T	c.(643-645)Cgc>Tgc	p.R215C	SHANK3_ENST00000445220.2_Missense_Mutation_p.R215C|SHANK3_ENST00000262795.3_Missense_Mutation_p.R215C			Q9BYB0	SHAN3_HUMAN	SH3 and multiple ankyrin repeat domains 3	215					adult behavior (GO:0030534)|alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor clustering (GO:0097113)|brain morphogenesis (GO:0048854)|dendritic spine morphogenesis (GO:0060997)|guanylate kinase-associated protein clustering (GO:0097117)|learning (GO:0007612)|MAPK cascade (GO:0000165)|memory (GO:0007613)|N-methyl-D-aspartate receptor clustering (GO:0097114)|negative regulation of actin filament bundle assembly (GO:0032232)|negative regulation of cell volume (GO:0045794)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of glutamate receptor signaling pathway (GO:1900451)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|positive regulation of synapse structural plasticity (GO:0051835)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic density assembly (GO:0097107)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of long term synaptic depression (GO:1900452)|regulation of long-term synaptic potentiation (GO:1900271)|social behavior (GO:0035176)|striatal medium spiny neuron differentiation (GO:0021773)|synapse assembly (GO:0007416)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|ciliary membrane (GO:0060170)|cytoplasm (GO:0005737)|neuron projection (GO:0043005)|neuron spine (GO:0044309)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	GKAP/Homer scaffold activity (GO:0030160)|identical protein binding (GO:0042802)|ionotropic glutamate receptor binding (GO:0035255)|protein C-terminus binding (GO:0008022)|scaffold protein binding (GO:0097110)|SH3 domain binding (GO:0017124)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(5)	8		all_cancers(38;3.75e-11)|all_epithelial(38;1.82e-09)|Breast(42;0.000448)|all_lung(38;0.000665)|Lung NSC(38;0.0104)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)		BRCA - Breast invasive adenocarcinoma(115;0.22)		CAAGGACAGCCGCGGCTTGAC	0.662																																						ENST00000414786.2																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|lung(5)	8						c.(643-645)Cgc>Tgc		SH3 and multiple ankyrin repeat domains 3							11	14	13					22																	51117489		2052	4182	6234	SO:0001583	missense	85358							g.chr22:51117489C>T	AB051437		22q13.3	2013-11-14			ENSG00000251322	ENSG00000251322		"Sterile alpha motif (SAM) domain containing", "Ankyrin repeat domain containing"	14294	protein-coding gene	gene with protein product	"proline rich synapse associated protein 2", "shank postsynaptic density protein"	606230				11258795, 11431708, 10806096, 17173049	Standard	NM_033517		Approved	SPANK-2, prosap2, KIAA1650, PSAP2	uc031ryd.1	Q9BYB0	OTTHUMG00000150169	ENST00000414786.2:c.643C>T	22.37:g.51117489C>T	ENSP00000464552:p.Arg215Cys					SHANK3_ENST00000262795.3_Missense_Mutation_p.R215C|SHANK3_ENST00000445220.2_Missense_Mutation_p.R215C	p.R215C			F2Z3L0	F2Z3L0_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.22)	6	870	+		all_cancers(38;3.75e-11)|all_epithelial(38;1.82e-09)|Breast(42;0.000448)|all_lung(38;0.000665)|Lung NSC(38;0.0104)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)	215					D7UT47|Q8TET3	Missense_Mutation	SNP	ENST00000414786.2	37	c.643C>T		.	.	.	.	.	.	.	.	.	.	C	18.55	3.648414	0.67358	.	.	ENSG00000251322	ENST00000262795;ENST00000445220	T;T	0.53857	0.6;0.6	5.18	4.16	0.48862	.	.	.	.	.	T	0.58278	0.2111	L	0.33668	1.02	0.34842	D	0.74077	D	0.89917	1.0	D	0.69307	0.963	T	0.65697	-0.6105	9	0.48119	T	0.1	.	10.7636	0.46279	0.0:0.908:0.0:0.092	.	215	F2Z3L0	.	C	215	ENSP00000442518:R215C;ENSP00000446078:R215C	ENSP00000442518:R215C	R	+	1	0	SHANK3	49464355	1.000000	0.71417	0.997000	0.53966	0.926000	0.56050	2.561000	0.45905	2.414000	0.81942	0.645000	0.84053	CGC		0.662	SHANK3-001	KNOWN	non_canonical_polymorphism|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000316674.2	NM_001080420		2	4	0	0	0	1	0	2	4					T	51117489	C	T	51117489	3	4	291	1	0	0	0	0	1	0	0	0	14266	652	23	2	665	2	SHANK3	22	51117489	Missense_Mutation	SNP	C	TCGA-J9-A8CM-01A-11D-A34U-08	12623065	51117489	187077	85	14090											
DACH2	117154	broad.mit.edu	37	chrX	85769329	85769329	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctttgggagtgttgcaggAaaatgcccgccttctgaccc	7	12	11	11	1	2	1	0	1	2	0	2	3	2	3	3	2	2	2	3	2	2	4			TCGA-J9-A8CM-01A-11D-A34U-08	TCGA-J9-A8CM-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a01318-edcd-41e8-8be5-95fbc01e1e7e	b7b750a0-fdaa-42a2-b583-989423ec1b45	g.chrX:85769329A>G	ENST00000373125.4	+	3	575	c.575A>G	c.(574-576)gAa>gGa	p.E192G	DACH2_ENST00000373131.1_Missense_Mutation_p.E179G|DACH2_ENST00000508860.1_Missense_Mutation_p.E25G|DACH2_ENST00000510272.1_5'UTR	NM_053281.3	NP_444511.1	Q96NX9	DACH2_HUMAN	dachshund family transcription factor 2	192					development of primary female sexual characteristics (GO:0046545)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(14)|lung(28)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	71						GTGTTGCAGGAAAATGCCCGC	0.458																																						ENST00000373131.1																			0				breast(2)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(14)|lung(28)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	71						c.(535-537)gAa>gGa		dachshund homolog 2 (Drosophila)							53	45	48					X																	85769329		2203	4300	6503	SO:0001583	missense	117154				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|nucleotide binding	g.chrX:85769329A>G	AF428101	CCDS14455.1, CCDS48140.1, CCDS55457.1	Xq21.3	2014-02-03	2014-02-03		ENSG00000126733	ENSG00000126733			16814	protein-coding gene	gene with protein product		300608	"dachshund homolog 2 (Drosophila)"				Standard	NM_053281		Approved		uc004eew.2	Q96NX9	OTTHUMG00000021944	ENST00000373125.4:c.575A>G	X.37:g.85769329A>G	ENSP00000362217:p.Glu192Gly					DACH2_ENST00000508860.1_Missense_Mutation_p.E25G|DACH2_ENST00000373125.4_Missense_Mutation_p.E192G|DACH2_ENST00000510272.1_5'UTR	p.E179G	NM_001139514.1	NP_001132986.1	Q96NX9	DACH2_HUMAN			2	699	+			192					B1AJV3|B4DQG3|Q8NAY3|Q8ND17|Q96N55	Missense_Mutation	SNP	ENST00000373125.4	37	c.536A>G	CCDS14455.1	.	.	.	.	.	.	.	.	.	.	A	14.54	2.564838	0.45694	.	.	ENSG00000126733	ENST00000344497;ENST00000373131;ENST00000373125;ENST00000508860;ENST00000400297	D;D	0.85629	-2.01;-1.91	4.88	4.88	0.63580	.	0.159935	0.41938	D	0.000786	T	0.80243	0.4587	L	0.48642	1.525	0.80722	D	1	P;B;B	0.37914	0.611;0.014;0.002	B;B;B	0.33750	0.169;0.047;0.007	T	0.81750	-0.0790	10	0.66056	D	0.02	.	13.6528	0.62320	1.0:0.0:0.0:0.0	.	58;179;192	Q1RMF5;Q96NX9-2;Q96NX9	.;.;DACH2_HUMAN	G	192;179;192;25;25	ENSP00000362223:E179G;ENSP00000362217:E192G	ENSP00000345134:E192G	E	+	2	0	DACH2	85655985	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	6.226000	0.72277	1.597000	0.50072	0.412000	0.27726	GAA		0.458	DACH2-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000359266.1	NM_053281		6	2	0	0	0	1	0	6	2					G	85769329	A	G	85769329	3	3	291	1	0	0	0	0	1	0	0	0	4221	246	9	4	585	4	DACH2	23	85769329	Missense_Mutation	SNP	A	TCGA-J9-A8CM-01A-11D-A34U-08		85769329	69501231	86	14091											
MACF1	23499	broad.mit.edu	37	chr1	39908220	39908220	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agacccaaaagtcattgaagTtgagctcgcaaagcaccatg	15	7	9	10	1	1	3	1	2	0	1	2	3	1	3	2	0	2	4	2	0	4	2			TCGA-J9-A8CN-01A-11D-A34U-08	TCGA-J9-A8CN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7211918-5718-4053-bdf8-ec5b69c3c95e	a6cf8216-0d6d-4835-b09e-04ee0ae4841c	g.chr1:39908220T>C	ENST00000372915.3	+	76	18869	c.18782T>C	c.(18781-18783)gTt>gCt	p.V6261A	MACF1_ENST00000567887.1_Missense_Mutation_p.V6399A|MACF1_ENST00000564288.1_Missense_Mutation_p.V6362A|MACF1_ENST00000545844.1_Missense_Mutation_p.V4303A|MACF1_ENST00000361689.2_Missense_Mutation_p.V4303A|MACF1_ENST00000289893.4_Missense_Mutation_p.V4805A|MACF1_ENST00000317713.7_Missense_Mutation_p.V4303A|MACF1_ENST00000539005.1_Missense_Mutation_p.V4173A			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	6261					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			GTCATTGAAGTTGAGCTCGCA	0.423																																						ENST00000564288.1																			0				breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203						c.(19084-19086)gTt>gCt		microtubule-actin crosslinking factor 1							65	65	65					1																	39908220		2203	4300	6503	SO:0001583	missense	23499				cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding	g.chr1:39908220T>C	AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"EF-hand domain containing"	13664	protein-coding gene	gene with protein product	"actin cross-linking factor", "620 kDa actin binding protein", "macrophin 1", "trabeculin-alpha", "actin cross-linking family protein 7"	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.18782T>C	1.37:g.39908220T>C	ENSP00000362006:p.Val6261Ala					MACF1_ENST00000372915.3_Missense_Mutation_p.V6261A|MACF1_ENST00000317713.7_Missense_Mutation_p.V4303A|MACF1_ENST00000567887.1_Missense_Mutation_p.V6399A|MACF1_ENST00000289893.4_Missense_Mutation_p.V4805A|MACF1_ENST00000539005.1_Missense_Mutation_p.V4173A|MACF1_ENST00000545844.1_Missense_Mutation_p.V4303A|MACF1_ENST00000361689.2_Missense_Mutation_p.V4303A	p.V6362A			Q9UPN3	MACF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)		77	19862	+	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	6370					B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Missense_Mutation	SNP	ENST00000372915.3	37	c.19085T>C		.	.	.	.	.	.	.	.	.	.	T	24.5	4.536194	0.85812	.	.	ENSG00000127603	ENST00000545844;ENST00000372915;ENST00000361689;ENST00000317713;ENST00000539005;ENST00000289893	T;T;T;T;T;T	0.44083	0.93;0.93;0.93;0.93;0.93;0.93	6.03	6.03	0.97812	.	0.000000	0.56097	D	0.000039	T	0.46698	0.1406	N	0.12569	0.235	0.80722	D	1	D;D	0.64830	0.994;0.961	D;P	0.64687	0.928;0.774	T	0.54774	-0.8243	10	0.66056	D	0.02	.	16.5582	0.84512	0.0:0.0:0.0:1.0	.	6261;4303	Q9UPN3;F8W8Q1	MACF1_HUMAN;.	A	4303;6261;4303;4303;4173;4805	ENSP00000439537:V4303A;ENSP00000362006:V6261A;ENSP00000354573:V4303A;ENSP00000313438:V4303A;ENSP00000444364:V4173A;ENSP00000289893:V4805A	ENSP00000289893:V4805A	V	+	2	0	MACF1	39680807	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	8.040000	0.89188	2.308000	0.77769	0.533000	0.62120	GTT		0.423	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1	NM_033044		7	68	0	0	0	1	0	7	68					C	39908220	T	C	39908220	3	2	292	1	0	0	0	0	1	0	0	0	9144	1725	60	4	19349	4	MACF1	1	39908220	Missense_Mutation	SNP	T	TCGA-J9-A8CN-01A-11D-A34U-08		39908220	209342401	1	14092											
FLG	2312	broad.mit.edu	37	chr1	152280616	152280616	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatcttctgagtgtccctcaCtgtcactgtcctggctaaca	8	13	7	13	0	4	1	2	1	2	0	6	1	6	1	2	1	1	1	2	1	2	2			TCGA-J9-A8CN-01A-11D-A34U-08	TCGA-J9-A8CN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7211918-5718-4053-bdf8-ec5b69c3c95e	a6cf8216-0d6d-4835-b09e-04ee0ae4841c	g.chr1:152280616C>G	ENST00000368799.1	-	3	6781	c.6746G>C	c.(6745-6747)aGt>aCt	p.S2249T	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2249	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GTGTCCCTCACTGTCACTGTC	0.592									Ichthyosis																													ENST00000368799.1																			0				autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424						c.(6745-6747)aGt>aCt		filaggrin							206	205	206					1																	152280616		2203	4300	6503	SO:0001583	missense	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152280616C>G	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"EF-hand domain containing"	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.6746G>C	1.37:g.152280616C>G	ENSP00000357789:p.Ser2249Thr					FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	p.S2249T	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	6781	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		2249			Ser-rich.		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	c.6746G>C	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	c	8.441	0.850752	0.17034	.	.	ENSG00000143631	ENST00000368799	T	0.11063	2.81	3.75	3.75	0.43078	.	.	.	.	.	T	0.19604	0.0471	M	0.85099	2.735	0.09310	N	1	D	0.71674	0.998	D	0.69654	0.965	T	0.07693	-1.0759	9	0.27082	T	0.32	.	11.4072	0.49904	0.0:1.0:0.0:0.0	.	2249	P20930	FILA_HUMAN	T	2249	ENSP00000357789:S2249T	ENSP00000357789:S2249T	S	-	2	0	FLG	150547240	0.000000	0.05858	0.005000	0.12908	0.023000	0.10783	-0.335000	0.07873	1.814000	0.52955	0.436000	0.28706	AGT		0.592	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		6	325	0	0	0	1	0	6	325					G	152280616	C	G	152280616	3	3	292	1	0	0	0	0	1	0	0	0	5922	565	20	5	5443	5	FLG	1	152280616	Missense_Mutation	SNP	C	TCGA-J9-A8CN-01A-11D-A34U-08	112372396	152280616	96970005	2	14093											
LCE1C	353133	broad.mit.edu	37	chr1	152777634	152777634	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagtgctggccactccccccGccacagcagctggagccccc	6	4	11	20	1	0	0	0	0	0	0	1	2	1	1	7	2	4	3	7	2	0	0	rs551622346		TCGA-J9-A8CN-01A-11D-A34U-08	TCGA-J9-A8CN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7211918-5718-4053-bdf8-ec5b69c3c95e	a6cf8216-0d6d-4835-b09e-04ee0ae4841c	g.chr1:152777634G>A	ENST00000607093.1	-	1	320	c.321C>T	c.(319-321)ggC>ggT	p.G107G	LCE1C_ENST00000368768.1_Silent_p.G107G			Q5T751	LCE1C_HUMAN	late cornified envelope 1C	107	Gly-rich.				keratinization (GO:0031424)					NS(1)|lung(4)|prostate(1)|skin(2)|urinary_tract(1)	9	Lung NSC(65;9.06e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			CACTCCCCCCGCCACAGCAGC	0.662																																						ENST00000368768.1																			0				NS(1)|lung(4)|prostate(1)|skin(2)|urinary_tract(1)	9						c.(319-321)ggC>ggT		late cornified envelope 1C																																				SO:0001819	synonymous_variant	353133				keratinization			g.chr1:152777634G>A		CCDS1026.1	1q21.3	2008-02-05			ENSG00000197084	ENSG00000197084		"Late cornified envelopes"	29464	protein-coding gene	gene with protein product		612605				11698679	Standard	NM_001276331		Approved	LEP3	uc001fap.1	Q5T751	OTTHUMG00000012445	ENST00000607093.1:c.321C>T	1.37:g.152777634G>A						LCE1C_ENST00000607093.1_Silent_p.G107G	p.G107G	NM_178351.3	NP_848128.1	Q5T751	LCE1C_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		2	371	-	Lung NSC(65;9.06e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		107			Gly-rich.			Silent	SNP	ENST00000607093.1	37	c.321C>T	CCDS1026.1																																																																																				0.662	LCE1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034658.2	NM_178351		6	33	0	0	0	1	0	6	33					A	152777634	G	A	152777634	2	1	292	1	0	0	0	0	0	0	0	1	8661	1074	38	1		1	LCE1C	1	152777634	Silent	SNP	G	TCGA-J9-A8CN-01A-11D-A34U-08	497018	152777634	96472987	3	14094											
LHX9	56956	broad.mit.edu	37	chr1	197887072	197887072	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catggaggagatggagcgcaGatccaagactgaggcccgtc	11	5	15	10	2	0	4	0	1	0	3	2	7	1	6	2	4	1	1	2	4	1	0			TCGA-J9-A8CN-01A-11D-A34U-08	TCGA-J9-A8CN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7211918-5718-4053-bdf8-ec5b69c3c95e	a6cf8216-0d6d-4835-b09e-04ee0ae4841c	g.chr1:197887072G>T	ENST00000367387.4	+	1	544	c.119G>T	c.(118-120)aGa>aTa	p.R40I	LHX9_ENST00000367390.3_Missense_Mutation_p.R31I|LHX9_ENST00000337020.2_Missense_Mutation_p.R40I|LHX9_ENST00000561173.1_Missense_Mutation_p.R46I|LHX9_ENST00000367391.1_Missense_Mutation_p.R31I|LHX9_ENST00000606127.1_3'UTR	NM_020204.2	NP_064589.2	Q9NQ69	LHX9_HUMAN	LIM homeobox 9	40					cell proliferation (GO:0008283)|female gonad development (GO:0008585)|gonad morphogenesis (GO:0035262)|male gonad development (GO:0008584)|motor neuron axon guidance (GO:0008045)|negative regulation of transcription, DNA-templated (GO:0045892)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			endometrium(8)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(2)|skin(1)|stomach(1)	35						ATGGAGCGCAGATCCAAGACT	0.667																																						ENST00000367390.3																			0				endometrium(8)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(2)|skin(1)|stomach(1)	35						c.(91-93)aGa>aTa		LIM homeobox 9							88	89	89					1																	197887072		2203	4300	6503	SO:0001583	missense	56956				motor axon guidance|negative regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding	g.chr1:197887072G>T	AJ277915	CCDS1393.1, CCDS30962.1	1q31.1	2011-06-20			ENSG00000143355	ENSG00000143355		"Homeoboxes / LIM class"	14222	protein-coding gene	gene with protein product		606066					Standard	NM_020204		Approved		uc001guk.1	Q9NQ69	OTTHUMG00000035656	ENST00000367387.4:c.119G>T	1.37:g.197887072G>T	ENSP00000356357:p.Arg40Ile					LHX9_ENST00000367391.1_Missense_Mutation_p.R31I|LHX9_ENST00000367387.4_Missense_Mutation_p.R40I|LHX9_ENST00000337020.2_Missense_Mutation_p.R40I|LHX9_ENST00000606127.1_3'UTR|LHX9_ENST00000561173.1_Missense_Mutation_p.R46I	p.R31I	NM_001014434.1	NP_001014434.1	Q9NQ69	LHX9_HUMAN			2	119	+			40					Q5VUE2|Q5VUE3|Q5VUE6|Q86UH2|Q9BYU6|Q9NQ70	Missense_Mutation	SNP	ENST00000367387.4	37	c.92G>T	CCDS1393.1	.	.	.	.	.	.	.	.	.	.	G	32	5.137614	0.94517	.	.	ENSG00000143355	ENST00000367391;ENST00000367390;ENST00000367388;ENST00000337020;ENST00000367387	T;D;T;D	0.89681	0.38;-2.55;0.33;-2.55	5.06	5.06	0.68205	.	0.000000	0.85682	D	0.000000	D	0.93324	0.7872	L	0.59436	1.845	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;0.996;1.0	D	0.93765	0.7070	10	0.66056	D	0.02	.	17.7666	0.88480	0.0:0.0:1.0:0.0	.	40;31;31	Q9NQ69;Q9NQ69-3;Q9NQ69-2	LHX9_HUMAN;.;.	I	31;31;83;40;40	ENSP00000356361:R31I;ENSP00000356360:R31I;ENSP00000337969:R40I;ENSP00000356357:R40I	ENSP00000337969:R40I	R	+	2	0	LHX9	196153695	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	9.128000	0.94424	2.506000	0.84524	0.655000	0.94253	AGA		0.667	LHX9-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086547.2	NM_020204		8	94	1	0	5.4927e-09	1	6.07088e-09	8	94					T	197887072	G	T	197887072	3	4	292	1	0	0	0	0	1	0	0	0	8777	942	33	5	153	5	LHX9	1	197887072	Missense_Mutation	SNP	G	TCGA-J9-A8CN-01A-11D-A34U-08	45109438	197887072	51363549	4	14095											
TPO	7173	broad.mit.edu	37	chr2	1480927	1480927	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	accgctcttcggccgcctgcGgcaccggggaccaaggcgcg	5	4	15	17	7	1	0	0	0	1	0	2	1	1	1	5	5	1	2	5	5	1	1	rs528368360		TCGA-J9-A8CN-01A-11D-A34U-08	TCGA-J9-A8CN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7211918-5718-4053-bdf8-ec5b69c3c95e	a6cf8216-0d6d-4835-b09e-04ee0ae4841c	g.chr2:1480927G>A	ENST00000345913.4	+	8	980	c.889G>A	c.(889-891)Ggc>Agc	p.G297S	TPO_ENST00000329066.4_Missense_Mutation_p.G297S|TPO_ENST00000382201.3_Missense_Mutation_p.G297S|TPO_ENST00000497517.2_Intron|TPO_ENST00000382198.1_Intron|TPO_ENST00000337415.3_Missense_Mutation_p.G297S|TPO_ENST00000349624.3_Intron|TPO_ENST00000346956.3_Missense_Mutation_p.G297S	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN	thyroid peroxidase	297					cellular nitrogen compound metabolic process (GO:0034641)|embryonic hemopoiesis (GO:0035162)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide catabolic process (GO:0042744)|small molecule metabolic process (GO:0044281)|thyroid hormone generation (GO:0006590)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|heme binding (GO:0020037)|iodide peroxidase activity (GO:0004447)|peroxidase activity (GO:0004601)			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Dextrothyroxine(DB00509)|Methimazole(DB00763)|Propylthiouracil(DB00550)	GGCCGCCTGCGGCACCGGGGA	0.692													G|||	1	0.000199681	8e-04	0	5008	,	,		9489	0		0	False		,,,				2504	0					ENST00000345913.4																			0				breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95						c.(889-891)Ggc>Agc		thyroid peroxidase	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)						12	14	14					2																	1480927		2196	4283	6479	SO:0001583	missense	7173				cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity	g.chr2:1480927G>A		CCDS1643.1, CCDS1644.1, CCDS1646.1	2p25	2008-02-05			ENSG00000115705	ENSG00000115705	1.11.1.7		12015	protein-coding gene	gene with protein product		606765					Standard	NM_175722		Approved	TPX	uc002qww.3	P07202	OTTHUMG00000090271	ENST00000345913.4:c.889G>A	2.37:g.1480927G>A	ENSP00000318820:p.Gly297Ser					TPO_ENST00000337415.3_Missense_Mutation_p.G297S|TPO_ENST00000346956.3_Missense_Mutation_p.G297S|TPO_ENST00000329066.4_Missense_Mutation_p.G297S|TPO_ENST00000382198.1_Intron|TPO_ENST00000382201.3_Missense_Mutation_p.G297S|TPO_ENST00000349624.3_Intron|TPO_ENST00000497517.2_Intron	p.G297S	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	8	980	+	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)	297					P09934|P09935|Q8IUL0|Q8NF94|Q8NF95|Q8NF96|Q8NF97|Q8TCI9	Missense_Mutation	SNP	ENST00000345913.4	37	c.889G>A	CCDS1643.1	.	.	.	.	.	.	.	.	.	.	G	13.92	2.379893	0.42207	.	.	ENSG00000115705	ENST00000337415;ENST00000345913;ENST00000346956;ENST00000329066;ENST00000382201;ENST00000422464	T;T;T;T;T;T	0.74947	-0.89;-0.89;-0.89;-0.89;-0.89;-0.89	4.99	3.19	0.36642	.	0.333957	0.33005	N	0.005389	T	0.79667	0.4485	M	0.64170	1.965	0.80722	D	1	D;D;D	0.69078	0.997;0.985;0.988	P;P;P	0.60068	0.868;0.686;0.791	T	0.77520	-0.2557	10	0.49607	T	0.09	-35.0725	9.5582	0.39353	0.2286:0.0:0.7714:0.0	.	297;297;297	P07202-4;P07202-2;P07202	.;.;PERT_HUMAN	S	297;297;297;297;297;226	ENSP00000337263:G297S;ENSP00000318820:G297S;ENSP00000263886:G297S;ENSP00000329869:G297S;ENSP00000371636:G297S;ENSP00000405788:G226S	ENSP00000329869:G297S	G	+	1	0	TPO	1459934	0.565000	0.26610	0.955000	0.39395	0.023000	0.10783	1.106000	0.31098	0.518000	0.28383	0.460000	0.39030	GGC		0.692	TPO-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206594.2	NM_000547		3	8	0	0	0	1	0	3	8					A	1480927	G	A	1480927	3	1	292	1	0	0	0	0	1	0	0	0	16407	1116	39	2	915	2	TPO	2	1480927	Missense_Mutation	SNP	G	TCGA-J9-A8CN-01A-11D-A34U-08		1480927	241718446	5	14096											
TNP1	7141	broad.mit.edu	37	chr2	217724631	217724631	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcactcaccgtcatcgccccGtttcctacttttcaggttgc	5	14	6	16	3	4	0	4	0	0	0	6	0	5	0	4	1	2	2	4	1	1	5	rs561435538		TCGA-J9-A8CN-01A-11D-A34U-08	TCGA-J9-A8CN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7211918-5718-4053-bdf8-ec5b69c3c95e	a6cf8216-0d6d-4835-b09e-04ee0ae4841c	g.chr2:217724631G>A	ENST00000236979.2	-	1	156	c.127C>T	c.(127-129)Cgg>Tgg	p.R43W	AC007563.5_ENST00000447289.1_RNA|AC007563.5_ENST00000607591.1_RNA	NM_003284.3	NP_003275.1	P09430	STP1_HUMAN	transition protein 1 (during histone to protamine replacement)	43					chromatin remodeling (GO:0006338)|chromatin silencing (GO:0006342)|fertilization, exchange of chromosomal proteins (GO:0035042)|multicellular organismal development (GO:0007275)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome disassembly (GO:0006337)|sexual reproduction (GO:0019953)|single strand break repair (GO:0000012)|sperm motility (GO:0030317)|spermatid development (GO:0007286)|spermatid nucleus differentiation (GO:0007289)|spermatid nucleus elongation (GO:0007290)	male germ cell nucleus (GO:0001673)|nucleosome (GO:0000786)	DNA binding (GO:0003677)			large_intestine(1)|lung(1)|stomach(1)	3		Renal(207;0.0822)		Epithelial(149;8.97e-07)|all cancers(144;2.46e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TCATCGCCCCGTTTCCTACTT	0.552													G|||	1	0.000199681	0	0	5008	,	,		20388	0.001		0	False		,,,				2504	0					ENST00000236979.2																			0				large_intestine(1)|lung(1)|stomach(1)	3						c.(127-129)Cgg>Tgg		transition protein 1 (during histone to protamine replacement)							217	195	203					2																	217724631		2203	4300	6503	SO:0001583	missense	7141				chromatin silencing|fertilization, exchange of chromosomal proteins|multicellular organismal development|nucleosome disassembly|single strand break repair|sperm motility|spermatid nucleus elongation	nucleosome	DNA binding	g.chr2:217724631G>A		CCDS2406.1	2q35-q36	2008-06-03			ENSG00000118245	ENSG00000118245			11951	protein-coding gene	gene with protein product		190231				2249851	Standard	NM_003284		Approved		uc002vgk.3	P09430	OTTHUMG00000133057	ENST00000236979.2:c.127C>T	2.37:g.217724631G>A	ENSP00000236979:p.Arg43Trp					AC007563.5_ENST00000447289.1_RNA	p.R43W	NM_003284.3	NP_003275.1	P09430	STP1_HUMAN		Epithelial(149;8.97e-07)|all cancers(144;2.46e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	1	156	-		Renal(207;0.0822)	43						Missense_Mutation	SNP	ENST00000236979.2	37	c.127C>T	CCDS2406.1	.	.	.	.	.	.	.	.	.	.	G	12.50	1.957505	0.34565	.	.	ENSG00000118245	ENST00000236979	.	.	.	5.55	-1.5	0.08691	.	0.000000	0.52532	D	0.000080	T	0.64918	0.2642	.	.	.	0.21105	N	0.99979	D	0.89917	1.0	D	0.76071	0.987	T	0.64807	-0.6320	8	0.87932	D	0	-0.9614	15.5104	0.75776	0.0:0.0:0.2376:0.7624	.	43	P09430	STP1_HUMAN	W	43	.	ENSP00000236979:R43W	R	-	1	2	TNP1	217432876	0.771000	0.28555	0.434000	0.26772	0.816000	0.46133	0.173000	0.16724	-0.090000	0.12462	-0.182000	0.12963	CGG		0.552	TNP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256673.1	NM_003284		49	94	0	0	0	1	0	49	94					A	217724631	G	A	217724631	3	1	292	1	0	0	0	0	1	0	0	0	16330	1144	40	1	48	1	TNP1	2	217724631	Missense_Mutation	SNP	G	TCGA-J9-A8CN-01A-11D-A34U-08	216243704	217724631	25474742	6	14097											
LMCD1	29995	broad.mit.edu	37	chr3	8578934	8578934	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctaacatctgacctagaagaCgatcggaaaattggccgctt	13	9	9	10	3	1	3	0	1	1	2	2	5	1	4	2	2	1	1	2	2	5	4	rs35113439	byFrequency	TCGA-J9-A8CN-01A-11D-A34U-08	TCGA-J9-A8CN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7211918-5718-4053-bdf8-ec5b69c3c95e	a6cf8216-0d6d-4835-b09e-04ee0ae4841c	g.chr3:8578934C>T	ENST00000157600.3	+	3	427	c.195C>T	c.(193-195)gaC>gaT	p.D65D	LMCD1_ENST00000454244.1_5'UTR|LMCD1_ENST00000397386.3_Intron|LMCD1-AS1_ENST00000439407.1_RNA|LMCD1_ENST00000535732.1_Silent_p.D65D	NM_014583.2	NP_055398.1	Q9NZU5	LMCD1_HUMAN	LIM and cysteine-rich domains 1	65					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of calcineurin-NFAT signaling cascade (GO:0070886)|regulation of cardiac muscle hypertrophy (GO:0010611)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleus (GO:0005634)	transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			breast(2)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)	16				OV - Ovarian serous cystadenocarcinoma(96;0.124)		ACCTAGAAGACGATCGGAAAA	0.532													C|||	3	0.000599042	0.0023	0	5008	,	,		18460	0		0	False		,,,				2504	0					ENST00000157600.3																			0				breast(2)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)	16						c.(193-195)gaC>gaT		LIM and cysteine-rich domains 1		C		9,4397	15.5+/-35.6	0,9,2194	81	76	78		195	-11	0.1	3	dbSNP_126	78	0,8600		0,0,4300	no	coding-synonymous	LMCD1	NM_014583.2		0,9,6494	TT,TC,CC		0.0,0.2043,0.0692		65/366	8578934	9,12997	2203	4300	6503	SO:0001819	synonymous_variant	29995				positive regulation of calcineurin-NFAT signaling pathway|regulation of cardiac muscle hypertrophy|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus	transcription corepressor activity|zinc ion binding	g.chr3:8578934C>T	AF169284	CCDS33688.1, CCDS63533.1, CCDS63534.1	3p26-p24	2008-07-18			ENSG00000071282	ENSG00000071282			6633	protein-coding gene	gene with protein product	"dyxin"	604859				10662546	Standard	NM_001278233		Approved		uc003bqq.4	Q9NZU5	OTTHUMG00000154971	ENST00000157600.3:c.195C>T	3.37:g.8578934C>T						LMCD1_ENST00000535732.1_Silent_p.D65D|LMCD1_ENST00000397386.3_Intron|LMCD1_ENST00000454244.1_5'UTR|LMCD1-AS1_ENST00000439407.1_RNA	p.D65D	NM_014583.2	NP_055398.1	Q9NZU5	LMCD1_HUMAN		OV - Ovarian serous cystadenocarcinoma(96;0.124)	3	427	+			65					B4DG80	Silent	SNP	ENST00000157600.3	37	c.195C>T	CCDS33688.1																																																																																				0.532	LMCD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337854.1	NM_014583		22	35	0	0	0	1	0	22	35					T	8578934	C	T	8578934	2	4	292	1	0	0	0	0	0	0	0	1	8844	535	19	1		1	LMCD1	3	8578934	Silent	SNP	C	TCGA-J9-A8CN-01A-11D-A34U-08		8578934	189443496	7	14098											
XRN1	54464	broad.mit.edu	37	chr3	142145597	142145597	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgaatttacctggtgtgataCagttggaatcaaatctggcc	11	13	10	7	0	2	2	1	2	1	0	2	3	2	3	2	3	2	1	2	3	5	4			TCGA-J9-A8CN-01A-11D-A34U-08	TCGA-J9-A8CN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7211918-5718-4053-bdf8-ec5b69c3c95e	a6cf8216-0d6d-4835-b09e-04ee0ae4841c	g.chr3:142145597C>T	ENST00000264951.4	-	3	512	c.395G>A	c.(394-396)tGt>tAt	p.C132Y	XRN1_ENST00000544157.1_Intron|XRN1_ENST00000463916.1_Missense_Mutation_p.C132Y|XRN1_ENST00000392981.2_Missense_Mutation_p.C132Y	NM_019001.3	NP_061874.3	Q8IZH2	XRN1_HUMAN	5'-3' exoribonuclease 1	132					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|histone mRNA catabolic process (GO:0071044)|mRNA metabolic process (GO:0016071)|nuclear mRNA surveillance (GO:0071028)|nuclear-transcribed mRNA catabolic process (GO:0000956)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)|rRNA catabolic process (GO:0016075)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|membrane (GO:0016020)	5'-3' exonuclease activity (GO:0008409)|DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(3)|endometrium(6)|kidney(12)|large_intestine(11)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	61						TGGTGTGATACAGTTGGAATC	0.333																																						ENST00000264951.4																			0				NS(1)|breast(3)|endometrium(6)|kidney(12)|large_intestine(11)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	61						c.(394-396)tGt>tAt		5'-3' exoribonuclease 1							163	158	160					3																	142145597		2203	4300	6503	SO:0001583	missense	54464				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|histone mRNA catabolic process|nuclear mRNA surveillance|rRNA catabolic process	cytosol|Golgi apparatus|intermediate filament cytoskeleton|plasma membrane	5'-3' exonuclease activity|DNA binding|protein binding|RNA binding	g.chr3:142145597C>T	AY137776	CCDS3123.1, CCDS63801.1, CCDS75028.1	3q23	2008-02-05			ENSG00000114127	ENSG00000114127			30654	protein-coding gene	gene with protein product		607994				12515382	Standard	XM_005247544		Approved	SEP1	uc003eus.3	Q8IZH2	OTTHUMG00000159251	ENST00000264951.4:c.395G>A	3.37:g.142145597C>T	ENSP00000264951:p.Cys132Tyr					XRN1_ENST00000463916.1_Missense_Mutation_p.C132Y|XRN1_ENST00000392981.2_Missense_Mutation_p.C132Y|XRN1_ENST00000544157.1_Intron	p.C132Y	NM_019001.3	NP_061874.3	Q8IZH2	XRN1_HUMAN			3	512	-			132					Q4G0S3|Q68D88|Q6AI24|Q6MZS8|Q86WS7|Q8N8U4|Q9UF39	Missense_Mutation	SNP	ENST00000264951.4	37	c.395G>A	CCDS3123.1	.	.	.	.	.	.	.	.	.	.	C	25.8	4.671398	0.88348	.	.	ENSG00000114127	ENST00000264951;ENST00000392981;ENST00000463916	T;T	0.35421	1.31;1.32	5.68	5.68	0.88126	Putative 5-3 exonuclease (1);	0.000000	0.85682	D	0.000000	T	0.70527	0.3234	M	0.91510	3.215	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.998;0.998;0.999	T	0.76377	-0.2981	10	0.87932	D	0	-16.1844	20.1554	0.98111	0.0:1.0:0.0:0.0	.	132;132;132	Q8IZH2-3;Q8IZH2-2;Q8IZH2	.;.;XRN1_HUMAN	Y	132	ENSP00000264951:C132Y;ENSP00000376707:C132Y	ENSP00000264951:C132Y	C	-	2	0	XRN1	143628287	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.720000	0.84759	2.838000	0.97847	0.591000	0.81541	TGT		0.333	XRN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000354087.2	NM_019001		37	44	0	0	0	1	0	37	44					T	142145597	C	T	142145597	3	4	292	1	0	0	0	0	1	0	0	0	17456	478	17	3	4885	3	XRN1	3	142145597	Missense_Mutation	SNP	C	TCGA-J9-A8CN-01A-11D-A34U-08	133566663	142145597	55876833	8	14099											
PDHA2	5161	broad.mit.edu	37	chr4	96761615	96761615	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ttgcgtgggccttgaggccgGcataaacccctcggatcacg	7	8	13	13	4	1	1	1	1	0	0	2	2	1	2	4	4	2	1	4	4	2	3			TCGA-J9-A8CN-01A-11D-A34U-08	TCGA-J9-A8CN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7211918-5718-4053-bdf8-ec5b69c3c95e	a6cf8216-0d6d-4835-b09e-04ee0ae4841c	g.chr4:96761615G>A	ENST00000295266.4	+	1	377	c.314G>A	c.(313-315)gGc>gAc	p.G105D		NM_005390.4	NP_005381.1	P29803	ODPAT_HUMAN	pyruvate dehydrogenase (lipoamide) alpha 2	105					glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|pyruvate metabolic process (GO:0006090)|tricarboxylic acid cycle (GO:0006099)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	pyruvate dehydrogenase (acetyl-transferring) activity (GO:0004739)			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(23)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	46		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.23e-06)		CTTGAGGCCGGCATAAACCCC	0.517																																						ENST00000295266.4																			0				NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(23)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	46						c.(313-315)gGc>gAc		pyruvate dehydrogenase (lipoamide) alpha 2	NADH(DB00157)						129	113	119					4																	96761615		2203	4300	6503	SO:0001583	missense	5161				glycolysis	mitochondrial matrix	pyruvate dehydrogenase (acetyl-transferring) activity	g.chr4:96761615G>A		CCDS3644.1	4q22-q23	2009-11-09			ENSG00000163114	ENSG00000163114	1.2.4.1		8807	protein-coding gene	gene with protein product		179061		PDHAL			Standard	NM_005390		Approved		uc003htr.4	P29803	OTTHUMG00000130990	ENST00000295266.4:c.314G>A	4.37:g.96761615G>A	ENSP00000295266:p.Gly105Asp						p.G105D	NM_005390.4	NP_005381.1	P29803	ODPAT_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;1.23e-06)	1	377	+		Hepatocellular(203;0.114)	105					B2R9Q3|Q0VDI5|Q4VC02|Q6NXQ1	Missense_Mutation	SNP	ENST00000295266.4	37	c.314G>A	CCDS3644.1	.	.	.	.	.	.	.	.	.	.	G	10.75	1.439043	0.25900	.	.	ENSG00000163114	ENST00000295266	D	0.97114	-4.25	4.91	4.05	0.47172	Dehydrogenase, E1 component (1);	0.263878	0.35179	N	0.003394	D	0.97408	0.9152	L	0.56124	1.755	0.21220	N	0.999757	D	0.61697	0.99	D	0.69824	0.966	D	0.92952	0.6381	10	0.87932	D	0	-17.1313	11.773	0.51970	0.0:0.3428:0.6572:0.0	.	105	P29803	ODPAT_HUMAN	D	105	ENSP00000295266:G105D	ENSP00000295266:G105D	G	+	2	0	PDHA2	96980638	1.000000	0.71417	0.093000	0.20910	0.022000	0.10575	3.757000	0.55212	1.408000	0.46895	0.467000	0.42956	GGC		0.517	PDHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253608.1			5	142	0	0	0	1	0	5	142					A	96761615	G	A	96761615	3	1	292	1	0	0	0	0	1	0	0	0	11665	1203	42	3	316	3	PDHA2	4	96761615	Missense_Mutation	SNP	G	TCGA-J9-A8CN-01A-11D-A34U-08		96761615	94392661	9	14100											
DDR1	780	broad.mit.edu	37	chr6	30859877	30859877	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggtctggccaggctatgactAtgtgggatggagcaaccaca	10	8	14	9	0	1	1	0	1	1	0	1	3	1	3	2	5	2	2	2	5	3	2			TCGA-J9-A8CN-01A-11D-A34U-08	TCGA-J9-A8CN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7211918-5718-4053-bdf8-ec5b69c3c95e	a6cf8216-0d6d-4835-b09e-04ee0ae4841c	g.chr6:30859877A>G	ENST00000324771.8	+	9	1312	c.764A>G	c.(763-765)tAt>tGt	p.Y255C	DDR1_ENST00000361741.4_5'UTR|DDR1_ENST00000454612.2_Missense_Mutation_p.Y255C|DDR1_ENST00000513240.1_Missense_Mutation_p.Y255C|MIR4640_ENST00000581824.1_RNA|DDR1_ENST00000376575.3_Missense_Mutation_p.Y255C|DDR1_ENST00000418800.2_Missense_Mutation_p.Y255C|DDR1_ENST00000376568.3_Missense_Mutation_p.Y255C|DDR1_ENST00000446312.1_Missense_Mutation_p.M222V|DDR1_ENST00000508472.1_3'UTR|DDR1_ENST00000452441.1_Missense_Mutation_p.Y255C|DDR1_ENST00000376569.3_Missense_Mutation_p.Y255C|DDR1_ENST00000508312.1_Missense_Mutation_p.Y273C|DDR1_ENST00000376567.2_Missense_Mutation_p.Y255C|DDR1_ENST00000376570.4_Missense_Mutation_p.Y255C			Q08345	DDR1_HUMAN	discoidin domain receptor tyrosine kinase 1	255	DS-like domain.				branching involved in mammary gland duct morphogenesis (GO:0060444)|cell adhesion (GO:0007155)|collagen-activated tyrosine kinase receptor signaling pathway (GO:0038063)|ear development (GO:0043583)|embryo implantation (GO:0007566)|extracellular matrix organization (GO:0030198)|lactation (GO:0007595)|mammary gland alveolus development (GO:0060749)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine autophosphorylation (GO:0038083)|protein autophosphorylation (GO:0046777)|regulation of cell growth (GO:0001558)|regulation of cell-matrix adhesion (GO:0001952)|regulation of extracellular matrix disassembly (GO:0010715)|smooth muscle cell migration (GO:0014909)|smooth muscle cell-matrix adhesion (GO:0061302)|wound healing, spreading of cells (GO:0044319)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|collagen binding (GO:0005518)|metal ion binding (GO:0046872)|protein tyrosine kinase collagen receptor activity (GO:0038062)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(14)|ovary(1)|prostate(1)|skin(1)	29					Imatinib(DB00619)	GGCTATGACTATGTGGGATGG	0.577																																						ENST00000324771.8																			0				central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(14)|ovary(1)|prostate(1)|skin(1)	29						c.(763-765)tAt>tGt		discoidin domain receptor tyrosine kinase 1	Imatinib(DB00619)						146	146	146					6																	30859877		2203	4300	6503	SO:0001583	missense	780				cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular region|integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity	g.chr6:30859877A>G	X99031	CCDS4690.1, CCDS34385.1, CCDS47396.1, CCDS56411.1, CCDS75419.1	6p21.33	2010-02-17	2008-01-23		ENSG00000204580	ENSG00000204580	2.7.10.1	"CD molecules"	2730	protein-coding gene	gene with protein product		600408	"discoidin domain receptor family, member 1"	NTRK4, PTK3A, NEP, CAK, EDDR1		7789998	Standard	NM_001954		Approved	RTK6, CD167	uc003nrv.3	Q08345	OTTHUMG00000031236	ENST00000324771.8:c.764A>G	6.37:g.30859877A>G	ENSP00000318217:p.Tyr255Cys					DDR1_ENST00000376568.3_Missense_Mutation_p.Y255C|DDR1_ENST00000376569.3_Missense_Mutation_p.Y255C|DDR1_ENST00000376570.4_Missense_Mutation_p.Y255C|DDR1_ENST00000361741.4_5'UTR|DDR1_ENST00000418800.2_Missense_Mutation_p.Y255C|DDR1_ENST00000454612.2_Missense_Mutation_p.Y255C|DDR1_ENST00000376575.3_Missense_Mutation_p.Y255C|DDR1_ENST00000508472.1_3'UTR|DDR1_ENST00000508312.1_Missense_Mutation_p.Y273C|DDR1_ENST00000376567.2_Missense_Mutation_p.Y255C|DDR1_ENST00000452441.1_Missense_Mutation_p.Y255C|DDR1_ENST00000446312.1_Missense_Mutation_p.M222V|DDR1_ENST00000513240.1_Missense_Mutation_p.Y255C	p.Y255C			Q08345	DDR1_HUMAN			9	1312	+			255					B5A975|B5A976|B7Z2K0|Q14196|Q16562|Q2L6H3|Q4LE50|Q5ST11|Q5ST12|Q6NSK4|Q9UD35|Q9UD36|Q9UD37|Q9UD86|Q9UDL2	Missense_Mutation	SNP	ENST00000324771.8	37	c.764A>G	CCDS34385.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	19.43|19.43	3.825953|3.825953	0.71143|0.71143	.|.	.|.	ENSG00000204580|ENSG00000204580	ENST00000446312|ENST00000460944;ENST00000324771;ENST00000418800;ENST00000454612;ENST00000376569;ENST00000376575;ENST00000376570;ENST00000428153;ENST00000376568;ENST00000452441;ENST00000508312;ENST00000376567;ENST00000513240;ENST00000417521	D|T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.97959|0.23147	-4.63|1.92;1.92;1.92;1.92;1.92;1.92;1.92;1.92;1.92;1.92;1.92;1.92;1.92;1.92	3.82|3.82	3.82|3.82	0.43975|0.43975	.|.	.|0.000000	.|0.64402	.|D	.|0.000001	T|T	0.37812|0.37812	0.1017|0.1017	M|M	0.73217|0.73217	2.22|2.22	0.80722|0.80722	D|D	1|1	B|D;D;D;D	0.12630|0.89917	0.006|1.0;1.0;1.0;0.999	B|D;D;D;D	0.15870|0.97110	0.014|0.999;0.996;1.0;0.995	T|T	0.32877|0.32877	-0.9890|-0.9890	9|10	0.02654|0.87932	T|D	1|0	.|.	10.8399|10.8399	0.46708|0.46708	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	222|273;51;255;255	Q08345-4|B7Z2K0;A2ABM8;Q08345-5;Q08345	.|.;.;.;DDR1_HUMAN	V|C	222|255;255;255;255;255;255;255;255;255;255;273;255;255;51	ENSP00000405998:M222V|ENSP00000426420:Y255C;ENSP00000318217:Y255C;ENSP00000407699:Y255C;ENSP00000406091:Y255C;ENSP00000365753:Y255C;ENSP00000365759:Y255C;ENSP00000365754:Y255C;ENSP00000390593:Y255C;ENSP00000365752:Y255C;ENSP00000405039:Y255C;ENSP00000422442:Y273C;ENSP00000365751:Y255C;ENSP00000427552:Y255C;ENSP00000398682:Y51C	ENSP00000405998:M222V|ENSP00000318217:Y255C	M|Y	+|+	1|2	0|0	DDR1|DDR1	30967856|30967856	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.992000|0.992000	0.81027|0.81027	6.836000|6.836000	0.75349|0.75349	1.724000|1.724000	0.51502|0.51502	0.379000|0.379000	0.24179|0.24179	ATG|TAT		0.577	DDR1-005	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000076494.3	NM_013994		8	129	0	0	0	1	0	8	129					G	30859877	A	G	30859877	3	3	292	1	0	0	0	0	1	0	0	0	4336	449	16	4	786	4	DDR1	6	30859877	Missense_Mutation	SNP	A	TCGA-J9-A8CN-01A-11D-A34U-08		30859877	140255190	10	14101											
NDUFB9	4715	broad.mit.edu	37	chr8	125555467	125555467	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcagcatccacagccatacAtcttccctgactctcctggg	8	10	7	16	0	3	1	1	1	2	0	6	1	5	1	4	1	3	1	4	1	1	2			TCGA-J9-A8CN-01A-11D-A34U-08	TCGA-J9-A8CN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7211918-5718-4053-bdf8-ec5b69c3c95e	a6cf8216-0d6d-4835-b09e-04ee0ae4841c	g.chr8:125555467A>G	ENST00000276689.3	+	2	325	c.241A>G	c.(241-243)Atc>Gtc	p.I81V	NDUFB9_ENST00000518008.1_Missense_Mutation_p.I81V|NDUFB9_ENST00000517367.1_Missense_Mutation_p.I70V|NDUFB9_ENST00000522532.1_Missense_Mutation_p.I81V	NM_001278646.1|NM_005005.2	NP_001265575.1|NP_004996.1	Q9Y6M9	NDUB9_HUMAN	NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 9, 22kDa	81					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|sensory perception of sound (GO:0007605)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)			kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)	8	Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)			ACAGCCATACATCTTCCCTGA	0.473																																						ENST00000522532.1																			0				kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)	8						c.(241-243)Atc>Gtc		NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 9, 22kDa	NADH(DB00157)						100	87	92					8																	125555467		2203	4300	6503	SO:0001583	missense	4715				mitochondrial electron transport, NADH to ubiquinone|sensory perception of sound|transport	mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity	g.chr8:125555467A>G	AF044956	CCDS6352.1	8q24.13	2011-07-04	2002-08-29		ENSG00000147684	ENSG00000147684		"LYR motif containing", "Mitochondrial respiratory chain complex / Complex I"	7704	protein-coding gene	gene with protein product	"complex I B22 subunit"	601445	"NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 9 (22kD, B22)"			8661098	Standard	NM_005005		Approved	B22, UQOR22, LYRM3	uc003yrg.4	Q9Y6M9	OTTHUMG00000165054	ENST00000276689.3:c.241A>G	8.37:g.125555467A>G	ENSP00000276689:p.Ile81Val					NDUFB9_ENST00000276689.3_Missense_Mutation_p.I81V|NDUFB9_ENST00000518008.1_Missense_Mutation_p.I81V|NDUFB9_ENST00000517367.1_Missense_Mutation_p.I70V	p.I81V			Q9Y6M9	NDUB9_HUMAN	STAD - Stomach adenocarcinoma(47;0.00288)		2	288	+	Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108)		81					B2R8M6|Q9UQE8	Missense_Mutation	SNP	ENST00000276689.3	37	c.241A>G	CCDS6352.1	.	.	.	.	.	.	.	.	.	.	A	11.54	1.669477	0.29693	.	.	ENSG00000147684	ENST00000276689;ENST00000518008;ENST00000522532;ENST00000517367	T;D;D;T	0.83673	-0.71;-1.75;-1.74;-0.76	5.46	4.3	0.51218	.	0.167332	0.52532	N	0.000074	T	0.70833	0.3269	L	0.32530	0.975	0.37366	D	0.911449	B;B	0.18013	0.025;0.001	B;B	0.17098	0.017;0.006	T	0.62530	-0.6835	10	0.08599	T	0.76	-11.604	10.0546	0.42237	0.8593:0.0:0.1407:0.0	.	81;81	E9PF49;Q9Y6M9	.;NDUB9_HUMAN	V	81;81;81;70	ENSP00000276689:I81V;ENSP00000428282:I81V;ENSP00000431115:I81V;ENSP00000430322:I70V	ENSP00000276689:I81V	I	+	1	0	NDUFB9	125624648	0.999000	0.42202	0.974000	0.42286	0.540000	0.34992	1.813000	0.38962	0.899000	0.36444	0.533000	0.62120	ATC		0.473	NDUFB9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381606.1	NM_005005		5	60	0	0	0	1	0	5	60					G	125555467	A	G	125555467	3	3	292	1	0	0	0	0	1	0	0	0	10288	217	8	4	247	4	NDUFB9	8	125555467	Missense_Mutation	SNP	A	TCGA-J9-A8CN-01A-11D-A34U-08		125555467	20808555	11	14102											
DENND1A	57706	broad.mit.edu	37	chr9	126146148	126146148	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctggactctctgcctcgtcgCcttccgcgctgtctgactcc	2	12	9	18	4	2	1	0	1	2	0	7	2	4	2	4	1	1	1	4	1	0	1			TCGA-J9-A8CN-01A-11D-A34U-08	TCGA-J9-A8CN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7211918-5718-4053-bdf8-ec5b69c3c95e	a6cf8216-0d6d-4835-b09e-04ee0ae4841c	g.chr9:126146148C>T	ENST00000373624.2	-	21	1823	c.1622G>A	c.(1621-1623)gGc>gAc	p.G541D	DENND1A_ENST00000542603.1_Missense_Mutation_p.G326D|DENND1A_ENST00000473039.1_5'UTR|DENND1A_ENST00000394219.3_Missense_Mutation_p.G552D	NM_020946.1	NP_065997.1	Q8TEH3	DEN1A_HUMAN	DENN/MADD domain containing 1A	541					endocytosis (GO:0006897)|positive regulation of Rab GTPase activity (GO:0032851)|protein transport (GO:0015031)|regulation of Rab protein signal transduction (GO:0032483)|synaptic vesicle endocytosis (GO:0048488)	cell junction (GO:0030054)|clathrin-coated vesicle (GO:0030136)|clathrin-coated vesicle membrane (GO:0030665)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|synapse (GO:0045202)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|liver(2)|lung(18)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43						TGCCTCGTCGCCTTCCGCGCT	0.657																																						ENST00000373624.2																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|liver(2)|lung(18)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43						c.(1621-1623)gGc>gAc		DENN/MADD domain containing 1A							76	76	76					9																	126146148		2203	4300	6503	SO:0001583	missense	57706					cell junction|clathrin coated vesicle membrane|presynaptic membrane	guanyl-nucleotide exchange factor activity	g.chr9:126146148C>T	AB046828	CCDS35133.1, CCDS35134.1	9q34.11	2012-10-03	2005-08-17	2005-08-17	ENSG00000119522	ENSG00000119522		"DENN/MADD domain containing"	29324	protein-coding gene	gene with protein product		613633	"KIAA1608"	KIAA1608		10997877	Standard	XM_005252109		Approved	FLJ21129, FAM31A	uc004bnz.1	Q8TEH3	OTTHUMG00000020643	ENST00000373624.2:c.1622G>A	9.37:g.126146148C>T	ENSP00000362727:p.Gly541Asp					DENND1A_ENST00000394219.3_Missense_Mutation_p.G552D|DENND1A_ENST00000542603.1_Missense_Mutation_p.G326D|DENND1A_ENST00000473039.1_5'UTR	p.G541D	NM_020946.1	NP_065997.1	Q8TEH3	DEN1A_HUMAN			21	1823	-			541					A8MZA3|B1AM80|B7Z3C8|B7Z669|D3PFD3|Q05C88|Q5VWF0|Q6PJZ5|Q8IVD6|Q9H796	Missense_Mutation	SNP	ENST00000373624.2	37	c.1622G>A	CCDS35133.1	.	.	.	.	.	.	.	.	.	.	C	16.55	3.154272	0.57259	.	.	ENSG00000119522	ENST00000373624;ENST00000542603;ENST00000394219	T;T;T	0.30981	3.16;1.51;2.82	4.22	3.32	0.38043	.	0.000000	0.85682	D	0.000000	T	0.51363	0.1670	M	0.75447	2.3	0.80722	D	1	D;D;D;B	0.89917	0.999;0.999;1.0;0.113	D;D;D;B	0.74348	0.939;0.933;0.983;0.061	T	0.47873	-0.9083	10	0.33141	T	0.24	-14.3664	12.0307	0.53396	0.0:0.9147:0.0:0.0853	.	552;542;541;404	Q8TEH3-6;Q8TEH3-7;Q8TEH3;Q9HCG4	.;.;DEN1A_HUMAN;.	D	541;326;552	ENSP00000362727:G541D;ENSP00000437457:G326D;ENSP00000377766:G552D	ENSP00000362727:G541D	G	-	2	0	DENND1A	125185969	0.996000	0.38824	0.014000	0.15608	0.654000	0.38779	3.929000	0.56514	0.771000	0.33359	0.555000	0.69702	GGC		0.657	DENND1A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053997.1	NM_024820		6	100	0	0	0	1	0	6	100					T	126146148	C	T	126146148	3	4	292	1	0	0	0	0	1	0	0	0	4426	739	26	3	1415	3	DENND1A	9	126146148	Missense_Mutation	SNP	C	TCGA-J9-A8CN-01A-11D-A34U-08		126146148	15067283	12	14103											
RALGDS	5900	broad.mit.edu	37	chr9	135979208	135979208	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gcccaggtagggaacggtgcCctggatgatgccctgtgaca	8	7	15	11	1	0	2	0	2	0	0	0	4	0	4	3	4	3	1	3	4	2	1			TCGA-J9-A8CN-01A-11D-A34U-08	TCGA-J9-A8CN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7211918-5718-4053-bdf8-ec5b69c3c95e	a6cf8216-0d6d-4835-b09e-04ee0ae4841c	g.chr9:135979208C>T	ENST00000372050.3	-	11	1705	c.1684G>A	c.(1684-1686)Ggc>Agc	p.G562S	RALGDS_ENST00000393160.3_Missense_Mutation_p.G507S|RALGDS_ENST00000469972.1_5'UTR|RALGDS_ENST00000372047.3_Missense_Mutation_p.G550S|RALGDS_ENST00000372062.3_Missense_Mutation_p.G533S|RALGDS_ENST00000393157.3_Missense_Mutation_p.G561S|RALGDS_ENST00000542690.1_Missense_Mutation_p.G633S	NM_006266.2	NP_006257.1	Q12967	GNDS_HUMAN	ral guanine nucleotide dissociation stimulator	562	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				neurotrophin TRK receptor signaling pathway (GO:0048011)|Ras protein signal transduction (GO:0007265)|regulation of catalytic activity (GO:0050790)|regulation of small GTPase mediated signal transduction (GO:0051056)	cytosol (GO:0005829)	guanyl-nucleotide exchange factor activity (GO:0005085)|small GTPase regulator activity (GO:0005083)			endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)	10				OV - Ovarian serous cystadenocarcinoma(145;3.66e-06)|Epithelial(140;2.77e-05)		GGAACGGTGCCCTGGATGATG	0.607			T	CIITA	"PMBL, Hodgkin Lymphona, "						OREG0019581	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									Melanoma(189;762 2088 15384 21931 52515)	ENST00000393160.3				Dom	yes		9	9q34.3	5900	T	ral guanine nucleotide dissociation stimulator			L	CIITA		"PMBL, Hodgkin Lymphona, "		0				endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)	10						c.(1519-1521)Ggc>Agc		ral guanine nucleotide dissociation stimulator							111	81	91					9																	135979208		2203	4300	6503	SO:0001583	missense	5900				nerve growth factor receptor signaling pathway|Ras protein signal transduction|regulation of small GTPase mediated signal transduction	cytosol	Ral guanyl-nucleotide exchange factor activity	g.chr9:135979208C>T	AB037729	CCDS6959.1, CCDS43897.1, CCDS65172.1, CCDS65173.1, CCDS65174.1	9q34.3	2009-04-08			ENSG00000160271	ENSG00000160271			9842	protein-coding gene	gene with protein product		601619				7972015	Standard	NM_006266		Approved	RGF, RalGEF, RGDS	uc004ccr.3	Q12967	OTTHUMG00000020858	ENST00000372050.3:c.1684G>A	9.37:g.135979208C>T	ENSP00000361120:p.Gly562Ser		OREG0019581	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1622	RALGDS_ENST00000469972.1_5'UTR|RALGDS_ENST00000372062.3_Missense_Mutation_p.G533S|RALGDS_ENST00000372047.3_Missense_Mutation_p.G550S|RALGDS_ENST00000372050.3_Missense_Mutation_p.G562S|RALGDS_ENST00000393157.3_Missense_Mutation_p.G561S|RALGDS_ENST00000542690.1_Missense_Mutation_p.G633S	p.G507S	NM_001042368.1	NP_001035827.1	Q12967	GNDS_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;3.66e-06)|Epithelial(140;2.77e-05)	11	1872	-			562			Ras-GEF.		B7Z753|E7ER93|E7ERZ0|Q5T7V4|Q6KH11|Q6PCE1|Q6ZSD5|Q9HAX7|Q9HAY1|Q9HCT1|Q9P2N8	Missense_Mutation	SNP	ENST00000372050.3	37	c.1519G>A	CCDS6959.1	.	.	.	.	.	.	.	.	.	.	C	35	5.438628	0.96168	.	.	ENSG00000160271	ENST00000372050;ENST00000372047;ENST00000393160;ENST00000372051;ENST00000393157;ENST00000542690;ENST00000372062;ENST00000424572	T;T;T;T;T;T;T	0.31769	1.48;1.48;1.48;1.48;1.48;1.48;1.48	5.53	5.53	0.82687	Guanine-nucleotide dissociation stimulator CDC25 (4);Ras guanine nucleotide exchange factor, domain (1);	0.207005	0.35407	N	0.003227	T	0.59473	0.2196	M	0.77313	2.365	0.80722	D	1	D;D;D;D;D;D;D;D	0.89917	0.997;0.994;1.0;1.0;0.983;1.0;1.0;1.0	P;D;D;D;D;D;D;D	0.97110	0.881;0.982;1.0;1.0;0.962;1.0;1.0;1.0	T	0.63175	-0.6696	10	0.87932	D	0	.	18.4285	0.90617	0.0:1.0:0.0:0.0	.	633;533;562;550;507;561;550;562	F5H6M6;E7ER93;Q12967-2;Q8TEK9;Q6KH11;E7ERZ0;Q6PCE1;Q12967	.;.;.;.;.;.;.;GNDS_HUMAN	S	562;550;507;259;561;633;533;122	ENSP00000361120:G562S;ENSP00000361117:G550S;ENSP00000376867:G507S;ENSP00000376864:G561S;ENSP00000437518:G633S;ENSP00000361132:G533S;ENSP00000391814:G122S	ENSP00000361117:G550S	G	-	1	0	RALGDS	134969029	1.000000	0.71417	1.000000	0.80357	0.781000	0.44180	7.755000	0.85180	2.587000	0.87381	0.591000	0.81541	GGC		0.607	RALGDS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000054837.1	NM_006266		24	51	0	0	0	1	0	24	51					T	135979208	C	T	135979208	3	4	292	1	0	0	0	0	1	0	0	0	13016	623	22	3	1092	3	RALGDS	9	135979208	Missense_Mutation	SNP	C	TCGA-J9-A8CN-01A-11D-A34U-08	9833060	135979208	5234223	13	14104											
TRAF2	7186	broad.mit.edu	37	chr9	139802603	139802603	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tccgccttggtgaaaaggagCgccacctggagcacgagtgc	9	6	14	12	3	0	1	0	1	0	0	1	4	1	3	4	3	3	1	4	3	2	1	rs373018887		TCGA-J9-A8CN-01A-11D-A34U-08	TCGA-J9-A8CN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7211918-5718-4053-bdf8-ec5b69c3c95e	a6cf8216-0d6d-4835-b09e-04ee0ae4841c	g.chr9:139802603C>T	ENST00000247668.2	+	5	500	c.448C>T	c.(448-450)Cgc>Tgc	p.R150C	TRAF2_ENST00000359662.3_Missense_Mutation_p.R202C|TRAF2_ENST00000482854.1_3'UTR|TRAF2_ENST00000536468.1_Missense_Mutation_p.R150C	NM_021138.3	NP_066961.2	Q12933	TRAF2_HUMAN	TNF receptor-associated factor 2	150					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of NF-kappaB-inducing kinase activity (GO:0007250)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cellular protein complex assembly (GO:0043623)|cellular response to nitric oxide (GO:0071732)|innate immune response (GO:0045087)|negative regulation of glial cell apoptotic process (GO:0034351)|negative regulation of neuron death (GO:1901215)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein homodimerization activity (GO:0090073)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell cytokine production (GO:0002726)|programmed necrotic cell death (GO:0097300)|protein autoubiquitination (GO:0051865)|protein catabolic process (GO:0030163)|protein complex assembly (GO:0006461)|protein heterooligomerization (GO:0051291)|protein homotrimerization (GO:0070207)|protein K63-linked ubiquitination (GO:0070534)|regulation of apoptotic process (GO:0042981)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|regulation of immunoglobulin secretion (GO:0051023)|signal transduction (GO:0007165)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	CD40 receptor complex (GO:0035631)|cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|membrane raft (GO:0045121)|ubiquitin ligase complex (GO:0000151)	CD40 receptor binding (GO:0005174)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|ligase activity (GO:0016874)|protein phosphatase binding (GO:0019903)|signal transducer activity (GO:0004871)|sphingolipid binding (GO:0046625)|thioesterase binding (GO:0031996)|tumor necrosis factor receptor binding (GO:0005164)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.229)	OV - Ovarian serous cystadenocarcinoma(145;4.48e-06)|Epithelial(140;9.55e-06)		TGAAAAGGAGCGCCACCTGGA	0.652																																						ENST00000359662.3																			0				breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						c.(604-606)Cgc>Tgc		TNF receptor-associated factor 2		C	CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	43	43	43		448	4.2	0.6	9		43	0,8600		0,0,4300	no	missense	TRAF2	NM_021138.3	180	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	possibly-damaging	150/502	139802603	1,13005	2203	4300	6503	SO:0001583	missense	7186				activation of caspase activity|activation of NF-kappaB-inducing kinase activity|activation of pro-apoptotic gene products|cellular protein complex assembly|induction of apoptosis by extracellular signals|positive regulation of interleukin-2 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of T cell cytokine production|protein autoubiquitination|protein homotrimerization|protein K63-linked ubiquitination|tumor necrosis factor-mediated signaling pathway	CD40 receptor complex|cytosol|internal side of plasma membrane	CD40 receptor binding|enzyme binding|protein binding|signal transducer activity|sphingolipid binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr9:139802603C>T	U12597	CCDS7013.1	9q34	2013-01-09			ENSG00000127191	ENSG00000127191		"RING-type (C3HC4) zinc fingers"	12032	protein-coding gene	gene with protein product		601895				7639698	Standard	NM_021138		Approved	TRAP3	uc004cjv.3	Q12933	OTTHUMG00000020952	ENST00000247668.2:c.448C>T	9.37:g.139802603C>T	ENSP00000247668:p.Arg150Cys					TRAF2_ENST00000482854.1_3'UTR|TRAF2_ENST00000536468.1_Missense_Mutation_p.R150C|TRAF2_ENST00000247668.2_Missense_Mutation_p.R150C	p.R202C			Q12933	TRAF2_HUMAN	STAD - Stomach adenocarcinoma(284;0.229)	OV - Ovarian serous cystadenocarcinoma(145;4.48e-06)|Epithelial(140;9.55e-06)	5	649	+	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0511)	150					A8K107|B4DPJ7|Q7Z337|Q96NT2	Missense_Mutation	SNP	ENST00000247668.2	37	c.604C>T	CCDS7013.1	.	.	.	.	.	.	.	.	.	.	C	19.89	3.910618	0.72983	2.27E-4	0.0	ENSG00000127191	ENST00000419057;ENST00000536468;ENST00000429509;ENST00000432785;ENST00000247668;ENST00000359662;ENST00000371645	T;T;T;T;T	0.37411	1.75;1.48;1.75;1.48;1.2	4.16	4.16	0.48862	Zinc finger, TRAF-type (1);	0.538250	0.20185	N	0.097434	T	0.59115	0.2170	M	0.76838	2.35	0.49130	D	0.999751	D;D;D;D	0.89917	0.997;0.997;1.0;0.986	P;P;D;P	0.67900	0.884;0.884;0.954;0.453	T	0.63791	-0.6557	10	0.56958	D	0.05	-21.6945	14.408	0.67096	0.0:1.0:0.0:0.0	.	139;150;202;150	Q12933-3;Q12933-4;Q12933-2;Q12933	.;.;.;TRAF2_HUMAN	C	150;150;150;174;150;202;202	ENSP00000405860:R150C;ENSP00000446414:R150C;ENSP00000406524:R150C;ENSP00000247668:R150C;ENSP00000352685:R202C	ENSP00000247668:R150C	R	+	1	0	TRAF2	138922424	0.949000	0.32298	0.554000	0.28268	0.728000	0.41692	3.035000	0.49759	2.162000	0.67917	0.561000	0.74099	CGC		0.652	TRAF2-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055166.1	NM_021138		3	30	0	0	0	1	0	3	30					T	139802603	C	T	139802603	3	4	292	1	0	0	0	0	1	0	0	0	16435	768	27	1	462	1	TRAF2	9	139802603	Missense_Mutation	SNP	C	TCGA-J9-A8CN-01A-11D-A34U-08	3823395	139802603	1410828	14	14105											
ADAM12	8038	broad.mit.edu	37	chr10	127705896	127705896	+	Frame_Shift_Del	DEL	T	T	-																															ctgggcacttggtgtggataTtgtggagcaggtctgaatga																										TCGA-J9-A8CN-01A-11D-A34U-08	TCGA-J9-A8CN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7211918-5718-4053-bdf8-ec5b69c3c95e	a6cf8216-0d6d-4835-b09e-04ee0ae4841c	g.chr10:127705896delT	ENST00000368679.4	-	23	2991	c.2682delA	c.(2680-2682)caafs	p.Q894fs		NM_003474.4	NP_003465.3	O43184	ADA12_HUMAN	ADAM metallopeptidase domain 12	894					cell adhesion (GO:0007155)|epidermal growth factor receptor signaling pathway (GO:0007173)|myoblast fusion (GO:0007520)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|SH3 domain binding (GO:0017124)|zinc ion binding (GO:0008270)			biliary_tract(1)|breast(7)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69		all_epithelial(44;7.06e-05)|all_lung(145;0.00563)|Lung NSC(174;0.00834)|Colorectal(57;0.102)|all_neural(114;0.107)|Breast(234;0.22)		COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.216)		GGTGTGGATATTGTGGAGCAG	0.438																																						ENST00000368679.4																			0				biliary_tract(1)|breast(7)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						c.(2680-2682)cafs		ADAM metallopeptidase domain 12							102	99	100					10																	127705896		2202	4300	6502	SO:0001589	frameshift_variant	8038				cell adhesion|epidermal growth factor receptor signaling pathway|myoblast fusion|proteolysis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|protein binding|SH3 domain binding|zinc ion binding	g.chr10:127705896delT	AF023476	CCDS7653.1, CCDS7654.1	10q26	2008-07-29	2008-07-29		ENSG00000148848	ENSG00000148848		"ADAM metallopeptidase domain containing"	190	protein-coding gene	gene with protein product	"meltrin alpha"	602714	"a disintegrin and metalloproteinase domain 12 (meltrin alpha)"			9417060, 18342566	Standard	NM_003474		Approved	MCMPMltna, MLTN	uc001ljk.2	O43184	OTTHUMG00000019243	ENST00000368679.4:c.2682delA	10.37:g.127705896delT	ENSP00000357668:p.Gln894fs						p.Q894fs	NM_003474.4	NP_003465.3	O43184	ADA12_HUMAN		COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.216)	23	2991	-		all_epithelial(44;7.06e-05)|all_lung(145;0.00563)|Lung NSC(174;0.00834)|Colorectal(57;0.102)|all_neural(114;0.107)|Breast(234;0.22)	894					O60470|Q5JRP0|Q5JRP1|Q6P9E3|Q6UWB0	Frame_Shift_Del	DEL	ENST00000368679.4	37	c.2682delA	CCDS7653.1																																																																																				0.438	ADAM12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050961.1			2	4						2	4	---	---	---	---	-	127705896	T	-	127705896	7	5	292	1	0	1	0	1	0	0	0	0	236	1490	52	0	51	0	ADAM12	10	127705896	Frame_Shift_Del	DEL	T	TCGA-J9-A8CN-01A-11D-A34U-08		127705896	7828851	15	14106											
OR5AS1	219447	broad.mit.edu	37	chr11	55798756	55798756	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tatttcccatgtttaatccaAtaatttatagtttcagaaac	14	17	3	7	0	1	1	1	0	0	1	3	1	3	1	2	0	1	2	2	0	7	9			TCGA-J9-A8CN-01A-11D-A34U-08	TCGA-J9-A8CN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7211918-5718-4053-bdf8-ec5b69c3c95e	a6cf8216-0d6d-4835-b09e-04ee0ae4841c	g.chr11:55798756A>G	ENST00000313555.1	+	1	862	c.862A>G	c.(862-864)Ata>Gta	p.I288V		NM_001001921.1	NP_001001921.1	Q8N127	O5AS1_HUMAN	olfactory receptor, family 5, subfamily AS, member 1	288						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(7)|large_intestine(7)|liver(1)|lung(22)|ovary(3)|prostate(4)|skin(3)|stomach(1)	48	Esophageal squamous(21;0.00693)					GTTTAATCCAATAATTTATAG	0.333																																						ENST00000313555.1																			0				endometrium(7)|large_intestine(7)|liver(1)|lung(22)|ovary(3)|prostate(4)|skin(3)|stomach(1)	48						c.(862-864)Ata>Gta		olfactory receptor, family 5, subfamily AS, member 1							51	52	52					11																	55798756		2201	4296	6497	SO:0001583	missense	219447				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55798756A>G	AB065543	CCDS31516.1	11q11	2012-08-09			ENSG00000181785	ENSG00000181785		"GPCR / Class A : Olfactory receptors"	15261	protein-coding gene	gene with protein product							Standard	NM_001001921		Approved		uc010riw.2	Q8N127	OTTHUMG00000166830	ENST00000313555.1:c.862A>G	11.37:g.55798756A>G	ENSP00000324111:p.Ile288Val						p.I288V	NM_001001921.1	NP_001001921.1	Q8N127	O5AS1_HUMAN			1	862	+	Esophageal squamous(21;0.00693)		288					Q6IFB8	Missense_Mutation	SNP	ENST00000313555.1	37	c.862A>G	CCDS31516.1	.	.	.	.	.	.	.	.	.	.	A	2.798	-0.249700	0.05867	.	.	ENSG00000181785	ENST00000313555	T	0.40756	1.02	5.0	2.54	0.30619	GPCR, rhodopsin-like superfamily (1);	0.000000	0.36002	U	0.002844	T	0.20861	0.0502	N	0.17082	0.46	0.09310	N	1	B	0.12630	0.006	B	0.12156	0.007	T	0.11131	-1.0600	10	0.49607	T	0.09	.	1.1512	0.01786	0.5269:0.1537:0.171:0.1483	.	288	Q8N127	O5AS1_HUMAN	V	288	ENSP00000324111:I288V	ENSP00000324111:I288V	I	+	1	0	OR5AS1	55555332	0.000000	0.05858	0.067000	0.19924	0.233000	0.25261	-1.320000	0.02700	0.741000	0.32674	0.472000	0.43445	ATA		0.333	OR5AS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391538.1	NM_001001921		3	68	0	0	0	1	0	3	68					G	55798756	A	G	55798756	3	3	292	1	0	0	0	0	1	0	0	0	11146	101	4	4	864	4	OR5AS1	11	55798756	Missense_Mutation	SNP	A	TCGA-J9-A8CN-01A-11D-A34U-08		55798756	79207760	16	14107											
KSR2	283455	broad.mit.edu	37	chr12	118199016	118199016	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgacgatgttgggggtgcgCggcggggtgcggaccgcgtg	3	7	23	8	7	0	1	0	1	0	0	0	3	0	2	1	6	2	1	1	6	0	1			TCGA-J9-A8CN-01A-11D-A34U-08	TCGA-J9-A8CN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7211918-5718-4053-bdf8-ec5b69c3c95e	a6cf8216-0d6d-4835-b09e-04ee0ae4841c	g.chr12:118199016C>T	ENST00000339824.5	-	4	1513	c.786G>A	c.(784-786)ccG>ccA	p.P262P	KSR2_ENST00000425217.1_Silent_p.P233P			Q6VAB6	KSR2_HUMAN	kinase suppressor of ras 2	262	Pro-rich.				intracellular signal transduction (GO:0035556)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TGGGGGTGCGCGGCGGGGTGC	0.751																																						ENST00000425217.1																			0				NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						c.(697-699)ccG>ccA		kinase suppressor of ras 2							46	58	55					12																	118199016		1840	4058	5898	SO:0001819	synonymous_variant	283455				intracellular signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity	g.chr12:118199016C>T	AY345972	CCDS61250.1	12q24.22-q24.23	2014-08-12			ENSG00000171435	ENSG00000171435			18610	protein-coding gene	gene with protein product		610737				12471243	Standard	NM_173598		Approved	FLJ25965	uc001two.2	Q6VAB6	OTTHUMG00000169020	ENST00000339824.5:c.786G>A	12.37:g.118199016C>T						KSR2_ENST00000339824.5_Silent_p.P262P	p.P233P	NM_173598.4	NP_775869.3	Q6VAB6	KSR2_HUMAN			4	753	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		262			Pro-rich.		A0PJT2|Q3B828|Q8N775	Silent	SNP	ENST00000339824.5	37	c.699G>A																																																																																					0.751	KSR2-001	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000401987.2	NM_173598		6	229	0	0	0	1	0	6	229					T	118199016	C	T	118199016	2	4	292	1	0	0	0	0	0	0	0	1	8582	755	27	1		1	KSR2	12	118199016	Silent	SNP	C	TCGA-J9-A8CN-01A-11D-A34U-08		118199016	15652879	17	14108											
MYH7	4625	broad.mit.edu	37	chr14	23885342	23885342	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcaccctcagggcctcgttGcggctgcgtgtctctgcgtc	2	12	12	15	4	3	0	2	0	1	0	6	0	3	0	2	2	3	2	2	2	0	2			TCGA-J9-A8CN-01A-11D-A34U-08	TCGA-J9-A8CN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7211918-5718-4053-bdf8-ec5b69c3c95e	a6cf8216-0d6d-4835-b09e-04ee0ae4841c	g.chr14:23885342G>T	ENST00000355349.3	-	34	4986	c.4824C>A	c.(4822-4824)cgC>cgA	p.R1608R	CTD-2201G16.1_ENST00000557368.1_RNA|MIR208B_ENST00000401172.1_RNA	NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	1608					adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|myosin complex (GO:0016459)|myosin filament (GO:0032982)|nucleus (GO:0005634)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		GGGCCTCGTTGCGGCTGCGTG	0.627																																						ENST00000355349.3																			0				NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137						c.(4822-4824)cgC>cgA		myosin, heavy chain 7, cardiac muscle, beta							175	139	151					14																	23885342		2203	4300	6503	SO:0001819	synonymous_variant	4625				adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr14:23885342G>T	M58018	CCDS9601.1	14q11.2-q13	2014-09-17	2006-09-29		ENSG00000092054	ENSG00000092054		"Myosins / Myosin superfamily : Class II"	7577	protein-coding gene	gene with protein product		160760	"myopathy, distal 1", "myosin, heavy polypeptide 7, cardiac muscle, beta"	CMH1, MPD1		2494889, 8483915, 15322983	Standard	XM_005267696		Approved	CMD1S	uc001wjx.3	P12883	OTTHUMG00000028755	ENST00000355349.3:c.4824C>A	14.37:g.23885342G>T							p.R1608R	NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN		GBM - Glioblastoma multiforme(265;0.00725)	34	4986	-	all_cancers(95;2.54e-05)		1608					A2TDB6|B6D424|Q14836|Q14837|Q14904|Q16579|Q2M1Y6|Q92679|Q9H1D5|Q9UDA2|Q9UMM8	Silent	SNP	ENST00000355349.3	37	c.4824C>A	CCDS9601.1																																																																																				0.627	MYH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071798.3	NM_000257		11	96	1	0	0.010729	1	0.0112655	11	96					T	23885342	G	T	23885342	2	4	292	1	0	0	0	0	0	0	0	1	10039	1306	46	5		5	MYH7	14	23885342	Silent	SNP	G	TCGA-J9-A8CN-01A-11D-A34U-08		23885342	83464198	18	14109											
LRRK1	79705	broad.mit.edu	37	chr15	101595338	101595338	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tctgactacgggatttcgagGcagtcattccatgagggcgc	8	10	13	10	3	2	2	1	2	1	0	4	4	3	3	1	3	1	1	1	3	1	3	rs547652242		TCGA-J9-A8CN-01A-11D-A34U-08	TCGA-J9-A8CN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7211918-5718-4053-bdf8-ec5b69c3c95e	a6cf8216-0d6d-4835-b09e-04ee0ae4841c	g.chr15:101595338G>A	ENST00000388948.3	+	27	4601	c.4242G>A	c.(4240-4242)agG>agA	p.R1414R	LRRK1_ENST00000284395.5_Silent_p.R1411R|RP11-505E24.2_ENST00000559857.1_RNA	NM_024652.3	NP_078928.3			leucine-rich repeat kinase 1											breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			GGATTTCGAGGCAGTCATTCC	0.537													G|||	1	0.000199681	0	0	5008	,	,		19432	0		0.001	False		,,,				2504	0					ENST00000284395.5																			0				breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72						c.(4231-4233)agG>agA		leucine-rich repeat kinase 1							102	102	102					15																	101595338		2049	4188	6237	SO:0001819	synonymous_variant	79705				small GTPase mediated signal transduction	mitochondrion	ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr15:101595338G>A	AB058693	CCDS42086.1	15q26.3	2007-01-29			ENSG00000154237	ENSG00000154237			18608	protein-coding gene	gene with protein product		610986				11347906, 14654223	Standard	XM_005254979		Approved	FLJ23119, KIAA1790, Roco1, RIPK6	uc002bwr.3	Q38SD2	OTTHUMG00000165514	ENST00000388948.3:c.4242G>A	15.37:g.101595338G>A						RP11-505E24.2_ENST00000559857.1_RNA|LRRK1_ENST00000388948.3_Silent_p.R1414R	p.R1411R			Q38SD2	LRRK1_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)		28	4633	+	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		1414			Protein kinase.			Silent	SNP	ENST00000388948.3	37	c.4233G>A	CCDS42086.1																																																																																				0.537	LRRK1-003	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384567.2	NM_024652		24	43	0	0	0	1	0	24	43					A	101595338	G	A	101595338	2	1	292	1	0	0	0	0	0	0	0	1	9032	1194	42	3		3	LRRK1	15	101595338	Silent	SNP	G	TCGA-J9-A8CN-01A-11D-A34U-08		101595338	936054	19	14110											
PKD1	5310	broad.mit.edu	37	chr16	2158549	2158549	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ccggctcacgtccacgccggGcagggccacacgcgctgggc	5	3	15	18	6	1	0	1	0	0	0	2	0	2	0	4	4	0	3	4	4	0	0			TCGA-J9-A8CN-01A-11D-A34U-08	TCGA-J9-A8CN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7211918-5718-4053-bdf8-ec5b69c3c95e	a6cf8216-0d6d-4835-b09e-04ee0ae4841c	g.chr16:2158549G>A	ENST00000262304.4	-	15	6827	c.6619C>T	c.(6619-6621)Ccc>Tcc	p.P2207S	PKD1_ENST00000423118.1_Missense_Mutation_p.P2207S|PKD1_ENST00000561991.1_5'Flank	NM_001009944.2	NP_001009944	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	2207	REJ. {ECO:0000255|PROSITE- ProRule:PRU00511}.				anatomical structure morphogenesis (GO:0009653)|branching morphogenesis of an epithelial tube (GO:0048754)|calcium ion transmembrane transport (GO:0070588)|calcium-independent cell-matrix adhesion (GO:0007161)|cartilage condensation (GO:0001502)|cartilage development (GO:0051216)|cation transmembrane transport (GO:0098655)|cell cycle arrest (GO:0007050)|cell-matrix adhesion (GO:0007160)|cytoplasmic sequestering of transcription factor (GO:0042994)|detection of mechanical stimulus (GO:0050982)|digestive tract development (GO:0048565)|embryonic placenta development (GO:0001892)|genitalia development (GO:0048806)|heart development (GO:0007507)|homophilic cell adhesion (GO:0007156)|in utero embryonic development (GO:0001701)|JAK-STAT cascade (GO:0007259)|kidney development (GO:0001822)|liver development (GO:0001889)|lung epithelium development (GO:0060428)|mesonephric duct development (GO:0072177)|mesonephric tubule development (GO:0072164)|metanephric ascending thin limb development (GO:0072218)|metanephric collecting duct development (GO:0072205)|metanephric distal tubule morphogenesis (GO:0072287)|metanephric proximal tubule development (GO:0072237)|neural tube development (GO:0021915)|neuropeptide signaling pathway (GO:0007218)|nitrogen compound metabolic process (GO:0006807)|peptidyl-serine phosphorylation (GO:0018105)|placenta blood vessel development (GO:0060674)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of protein binding (GO:0032092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein export from nucleus (GO:0006611)|regulation of mitotic spindle organization (GO:0060236)|regulation of proteasomal protein catabolic process (GO:0061136)|response to fluid shear stress (GO:0034405)|skin development (GO:0043588)|spinal cord development (GO:0021510)	basolateral plasma membrane (GO:0016323)|cilium (GO:0005929)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|motile primary cilium (GO:0031512)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|polycystin complex (GO:0002133)	calcium channel activity (GO:0005262)|carbohydrate binding (GO:0030246)|cation channel activity (GO:0005261)|ion channel binding (GO:0044325)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						TCCACGCCGGGCAGGGCCACA	0.697																																						ENST00000262304.4																			0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						c.(6619-6621)Ccc>Tcc		polycystic kidney disease 1 (autosomal dominant)							11	12	11					16																	2158549		2149	4229	6378	SO:0001583	missense	5310				calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding	g.chr16:2158549G>A	L33243	CCDS32369.1, CCDS45385.1	16p13.3	2014-01-28			ENSG00000008710	ENSG00000008710		"Voltage-gated ion channels / Transient receptor potential cation channels"	9008	protein-coding gene	gene with protein product	"polycystin 1", "transient receptor potential cation channel, subfamily P, member 1"	601313					Standard	NM_001009944		Approved	PBP, Pc-1, TRPP1	uc002cos.1	P98161	OTTHUMG00000155795	ENST00000262304.4:c.6619C>T	16.37:g.2158549G>A	ENSP00000262304:p.Pro2207Ser					PKD1_ENST00000423118.1_Missense_Mutation_p.P2207S	p.P2207S	NM_001009944.2	NP_001009944.2	P98161	PKD1_HUMAN			15	6827	-			2207			REJ.		Q15140|Q15141	Missense_Mutation	SNP	ENST00000262304.4	37	c.6619C>T	CCDS32369.1	.	.	.	.	.	.	.	.	.	.	g	14.98	2.698572	0.48307	.	.	ENSG00000008710	ENST00000262304;ENST00000423118;ENST00000306101;ENST00000382481	T;T	0.39592	1.07;1.07	5.49	5.49	0.81192	Egg jelly receptor, REJ-like (1);PKD/REJ-like protein (1);Polycystin cation channel (1);	0.181165	0.48286	D	0.000200	T	0.65995	0.2745	M	0.74258	2.255	0.42677	D	0.993538	D;D	0.71674	0.998;0.998	D;D	0.72625	0.94;0.978	T	0.65088	-0.6253	10	0.41790	T	0.15	.	19.4518	0.94871	0.0:0.0:1.0:0.0	.	2207;2207	P98161-3;P98161	.;PKD1_HUMAN	S	2207;2207;1558;486	ENSP00000262304:P2207S;ENSP00000399501:P2207S	ENSP00000262304:P2207S	P	-	1	0	PKD1	2098550	1.000000	0.71417	0.998000	0.56505	0.047000	0.14425	4.702000	0.61817	2.597000	0.87782	0.544000	0.68410	CCC		0.697	PKD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341688.1			3	19	0	0	0	1	0	3	19					A	2158549	G	A	2158549	3	1	292	1	0	0	0	0	1	0	0	0	11963	1203	42	3	6420	3	PKD1	16	2158549	Missense_Mutation	SNP	G	TCGA-J9-A8CN-01A-11D-A34U-08		2158549	88196204	20	14111											
MBTPS1	8720	broad.mit.edu	37	chr16	84121008	84121008	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagcgggcgatgttatcttcAaagtcaatgccgcctactcc	10	10	9	12	3	3	0	2	0	1	0	4	1	4	0	3	1	3	1	3	1	5	3			TCGA-J9-A8CN-01A-11D-A34U-08	TCGA-J9-A8CN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7211918-5718-4053-bdf8-ec5b69c3c95e	a6cf8216-0d6d-4835-b09e-04ee0ae4841c	g.chr16:84121008A>C	ENST00000343411.3	-	9	1584	c.1089T>G	c.(1087-1089)ttT>ttG	p.F363L	MBTPS1_ENST00000569770.1_5'UTR	NM_003791.2	NP_003782.1	Q14703	MBTP1_HUMAN	membrane-bound transcription factor peptidase, site 1	363	Peptidase S8.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|cholesterol metabolic process (GO:0008203)|endoplasmic reticulum unfolded protein response (GO:0030968)|lipid metabolic process (GO:0006629)|lysosome organization (GO:0007040)|proteolysis (GO:0006508)|regulation of transcription factor import into nucleus (GO:0042990)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum lumen (GO:0005788)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)	serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(10)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						TGTTATCTTCAAAGTCAATGC	0.383																																						ENST00000343411.3																			0				NS(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(10)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						c.(1087-1089)ttT>ttG		membrane-bound transcription factor peptidase, site 1							109	102	104					16																	84121008		2200	4300	6500	SO:0001583	missense	8720				cholesterol metabolic process|proteolysis	endoplasmic reticulum lumen|endoplasmic reticulum membrane|Golgi membrane|integral to membrane	serine-type endopeptidase activity	g.chr16:84121008A>C	D42053	CCDS10941.1	16q24	2008-08-04	2005-08-17		ENSG00000140943	ENSG00000140943			15456	protein-coding gene	gene with protein product		603355	"membrane-bound transcription factor protease, site 1"			9809072, 10944850	Standard	NM_003791		Approved	S1P, KIAA0091, SKI-1, PCSK8	uc002fhi.3	Q14703	OTTHUMG00000137639	ENST00000343411.3:c.1089T>G	16.37:g.84121008A>C	ENSP00000344223:p.Phe363Leu					MBTPS1_ENST00000569770.1_5'UTR	p.F363L	NM_003791.2	NP_003782.1	Q14703	MBTP1_HUMAN			9	1584	-			363			Serine protease.		A8K6V8|Q24JQ2|Q9UF67	Missense_Mutation	SNP	ENST00000343411.3	37	c.1089T>G	CCDS10941.1	.	.	.	.	.	.	.	.	.	.	A	13.99	2.403232	0.42613	.	.	ENSG00000140943	ENST00000343411	D	0.87256	-2.23	5.26	0.411	0.16392	Peptidase S8/S53, subtilisin/kexin/sedolisin (3);	0.000000	0.85682	D	0.000000	T	0.78904	0.4357	N	0.05383	-0.06	0.54753	D	0.999989	P	0.38788	0.647	P	0.48873	0.593	T	0.70733	-0.4791	10	0.29301	T	0.29	-17.0748	11.1837	0.48644	0.6018:0.0:0.3982:0.0	.	363	Q14703	MBTP1_HUMAN	L	363	ENSP00000344223:F363L	ENSP00000344223:F363L	F	-	3	2	MBTPS1	82678509	1.000000	0.71417	0.997000	0.53966	0.996000	0.88848	2.640000	0.46579	-0.139000	0.11414	0.460000	0.39030	TTT		0.383	MBTPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269080.2	NM_003791		15	84	0	0	0	1	0	15	84					C	84121008	A	C	84121008	3	2	292	1	0	0	0	0	1	0	0	0	9361	127	5	5	2129	5	MBTPS1	16	84121008	Missense_Mutation	SNP	A	TCGA-J9-A8CN-01A-11D-A34U-08	81962459	84121008	6233745	21	14112											
MYH8	4626	broad.mit.edu	37	chr17	10318896	10318896	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttccggcaccagattctcCgctgtcaaacagaaatcaga	12	9	7	13	2	3	3	2	0	1	3	5	3	4	3	3	1	1	2	3	1	2	2	rs181130030		TCGA-J9-A8CN-01A-11D-A34U-08	TCGA-J9-A8CN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7211918-5718-4053-bdf8-ec5b69c3c95e	a6cf8216-0d6d-4835-b09e-04ee0ae4841c	g.chr17:10318896C>T	ENST00000403437.2	-	7	635	c.541G>A	c.(541-543)Gga>Aga	p.G181R	CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000399342.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	181	Myosin motor.				ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|skeletal muscle contraction (GO:0003009)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|myosin light chain binding (GO:0032027)|structural constituent of muscle (GO:0008307)			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						CCAGATTCTCCGCTGTCAAAC	0.413									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling				C|||	1	0.000199681	0	0	5008	,	,		21006	0.001		0	False		,,,				2504	0					ENST00000403437.2																			0				NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						c.e7-1		myosin, heavy chain 8, skeletal muscle, perinatal							112	105	108					17																	10318896		2203	4300	6503	SO:0001630	splice_region_variant	4626	Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling	Familial Cancer Database	Carney Complex Variant	muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle	g.chr17:10318896C>T		CCDS11153.1	17p13.1	2013-09-19	2006-09-29		ENSG00000133020	ENSG00000133020		"Myosins / Myosin superfamily : Class II"	7578	protein-coding gene	gene with protein product		160741	"myosin, heavy polypeptide 8, skeletal muscle, perinatal"			2373371	Standard	NM_002472		Approved	MyHC-peri, MyHC-pn	uc002gmm.2	P13535	OTTHUMG00000130361	ENST00000403437.2:c.540-1G>A	17.37:g.10318896C>T						CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA	p.G181_splice	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN			7	635	-			181			Myosin head-like.		Q14910	Splice_Site	SNP	ENST00000403437.2	37	c.539_splice	CCDS11153.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	19.25	3.791228	0.70452	.	.	ENSG00000133020	ENST00000252173;ENST00000403437	D	0.96396	-4.0	4.44	4.44	0.53790	Myosin head, motor domain (3);	0.000000	0.40640	U	0.001048	D	0.98950	0.9643	H	0.98466	4.24	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.99301	1.0901	10	0.87932	D	0	.	17.2389	0.87007	0.0:1.0:0.0:0.0	.	181	P13535	MYH8_HUMAN	R	181	ENSP00000384330:G181R	ENSP00000252173:G181R	G	-	1	0	MYH8	10259621	1.000000	0.71417	0.941000	0.38009	0.569000	0.35902	7.522000	0.81844	2.308000	0.77769	0.591000	0.81541	GGA		0.413	MYH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252724.2	NM_002472	Missense_Mutation	53	63	0	0	0	1	0	53	63					T	10318896	C	T	10318896	5	4	292	1	0	0	0	0	0	0	1	0	10041	666	23	2	5408	2	MYH8	17	10318896	Splice_Site	SNP	C	TCGA-J9-A8CN-01A-11D-A34U-08		10318896	70876314	22	14113											
KRTAP4-8	728224	broad.mit.edu	37	chr17	39253906	39253906	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggcagcagcaggggcggcagCagctggattcacagcaagag	11	3	17	10	1	1	1	1	0	0	1	1	2	1	2	0	5	5	7	0	5	1	1			TCGA-J9-A8CN-01A-11D-A34U-08	TCGA-J9-A8CN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7211918-5718-4053-bdf8-ec5b69c3c95e	a6cf8216-0d6d-4835-b09e-04ee0ae4841c	g.chr17:39253906C>A	ENST00000333822.4	-	1	487	c.431G>T	c.(430-432)tGc>tTc	p.C144F		NM_031960.2	NP_114166.1	Q9BYQ9	KRA48_HUMAN	keratin associated protein 4-8	144	25 X 5 AA repeats of C-C-[IKRQVHEC]- [SPRT]-[STCVQPR].				aging (GO:0007568)|hair cycle (GO:0042633)	keratin filament (GO:0045095)				endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|prostate(1)	11						ggggcggcagcagctggattc	0.672																																						ENST00000333822.4																			0				endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|prostate(1)	11						c.(430-432)tGc>tTc		keratin associated protein 4-8							11	15	14					17																	39253906		692	1577	2269	SO:0001583	missense	728224					keratin filament		g.chr17:39253906C>A	AJ406940	CCDS45674.1	17q21.2	2013-06-25			ENSG00000204880	ENSG00000204880		"Keratin associated proteins"	17230	protein-coding gene	gene with protein product						11279113	Standard	NM_031960		Approved	KAP4.8	uc010wfo.2	Q9BYQ9	OTTHUMG00000133580	ENST00000333822.4:c.431G>T	17.37:g.39253906C>A	ENSP00000328444:p.Cys144Phe						p.C144F	NM_031960.2	NP_114166.1	Q9BYQ9	KRA48_HUMAN			1	487	-			144			25 X 5 AA repeats of C-C-[IKRQVHEC]- [SPRT]-[STCVQPR].		A8MSH3	Missense_Mutation	SNP	ENST00000333822.4	37	c.431G>T	CCDS45674.1	.	.	.	.	.	.	.	.	.	.	.	12.85	2.061217	0.36373	.	.	ENSG00000204880	ENST00000333822;ENST00000332991	T	0.02863	4.13	3.73	3.73	0.42828	.	0.000000	0.49916	U	0.000125	T	0.18425	0.0442	H	0.95328	3.655	0.35194	D	0.773676	D	0.59357	0.985	D	0.68039	0.955	T	0.20240	-1.0281	10	0.72032	D	0.01	.	7.5536	0.27812	0.0:0.8775:0.0:0.1225	.	144	Q9BYQ9	KRA48_HUMAN	F	144;114	ENSP00000328444:C144F	ENSP00000414561:C114F	C	-	2	0	KRTAP4-8	36507432	1.000000	0.71417	0.415000	0.26534	0.076000	0.17211	1.865000	0.39479	1.794000	0.52575	0.449000	0.29647	TGC		0.672	KRTAP4-8-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257684.1	NM_031960		4	11	1	0	0.150653	1	0.150653	4	11					A	39253906	C	A	39253906	3	1	292	1	0	0	0	0	1	0	0	0	8556	710	25	5	130	5	KRTAP4-8	17	39253906	Missense_Mutation	SNP	C	TCGA-J9-A8CN-01A-11D-A34U-08	28935010	39253906	41941304	23	14114											
C19orf44	84167	broad.mit.edu	37	chr19	16611793	16611793	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tagatgagaaacacttactcCtgaaagagaaccctgtgctc	14	9	8	10	0	0	4	0	2	0	3	2	6	1	4	2	0	4	1	2	0	5	2			TCGA-J9-A8CN-01A-11D-A34U-08	TCGA-J9-A8CN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7211918-5718-4053-bdf8-ec5b69c3c95e	a6cf8216-0d6d-4835-b09e-04ee0ae4841c	g.chr19:16611793C>A	ENST00000221671.3	+	2	346	c.190C>A	c.(190-192)Ctg>Atg	p.L64M	CTD-3222D19.2_ENST00000409035.1_Intron|C19orf44_ENST00000594035.1_Missense_Mutation_p.L64M	NM_032207.2	NP_115583.1	Q9H6X5	CS044_HUMAN	chromosome 19 open reading frame 44	64										endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|stomach(1)|urinary_tract(2)	16						ACACTTACTCCTGAAAGAGAA	0.478																																						ENST00000221671.3																			0				endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|stomach(1)|urinary_tract(2)	16						c.(190-192)Ctg>Atg		chromosome 19 open reading frame 44							107	120	116					19																	16611793		2203	4300	6503	SO:0001583	missense	84167							g.chr19:16611793C>A	AK025395	CCDS12345.1, CCDS74306.1	19p13.11	2011-11-24			ENSG00000105072	ENSG00000105072			26141	protein-coding gene	gene with protein product						12477932	Standard	NM_032207		Approved	FLJ21742	uc002neh.1	Q9H6X5		ENST00000221671.3:c.190C>A	19.37:g.16611793C>A	ENSP00000221671:p.Leu64Met					C19orf44_ENST00000594035.1_Missense_Mutation_p.L64M|CTD-3222D19.2_ENST00000409035.1_Intron	p.L64M	NM_032207.2	NP_115583.1	Q9H6X5	CS044_HUMAN			2	346	+			64					Q8N6Y7	Missense_Mutation	SNP	ENST00000221671.3	37	c.190C>A	CCDS12345.1	.	.	.	.	.	.	.	.	.	.	C	12.90	2.075981	0.36662	.	.	ENSG00000105072	ENST00000221671	.	.	.	5.05	-0.149	0.13420	.	1.086930	0.07136	N	0.846428	T	0.49406	0.1555	L	0.54323	1.7	0.09310	N	1	D;D	0.59767	0.972;0.986	P;P	0.59825	0.773;0.864	T	0.39251	-0.9623	9	0.33940	T	0.23	-2.4415	4.9	0.13769	0.0:0.5282:0.1634:0.3084	.	64;64	Q9H6X5;Q9H6X5-2	CS044_HUMAN;.	M	64	.	ENSP00000221671:L64M	L	+	1	2	C19orf44	16472793	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-0.235000	0.09016	0.160000	0.19432	0.655000	0.94253	CTG		0.478	C19orf44-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000461218.1	NM_032207		63	96	1	0	2.40885e-21	1	2.81032e-21	63	96					A	16611793	C	A	16611793	3	1	292	1	0	0	0	0	1	0	0	0	1927	680	24	5	192	5	C19orf44	19	16611793	Missense_Mutation	SNP	C	TCGA-J9-A8CN-01A-11D-A34U-08		16611793	42517190	24	14115											
ZNF91	7644	broad.mit.edu	37	chr19	23544860	23544860	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcttatgtttagcaagggtTgaagaatggctaaaagcttt	12	14	10	5	0	1	2	0	1	1	1	1	2	1	2	0	2	2	5	0	2	7	6			TCGA-J9-A8CN-01A-11D-A34U-08	TCGA-J9-A8CN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7211918-5718-4053-bdf8-ec5b69c3c95e	a6cf8216-0d6d-4835-b09e-04ee0ae4841c	g.chr19:23544860T>A	ENST00000300619.7	-	4	1126	c.921A>T	c.(919-921)tcA>tcT	p.S307S	ZNF91_ENST00000599743.1_Intron|ZNF91_ENST00000397082.2_Silent_p.S275S	NM_003430.2	NP_003421.2	Q05481	ZNF91_HUMAN	zinc finger protein 91	307					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)						all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)				TAGCAAGGGTTGAAGAATGGC	0.398																																						ENST00000300619.7																			0											c.(919-921)tcA>tcT		zinc finger protein 91							75	79	78					19																	23544860		2170	4285	6455	SO:0001819	synonymous_variant	7644					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:23544860T>A	M61871	CCDS42541.1, CCDS74322.1	19p12	2014-02-04	2006-05-12		ENSG00000167232	ENSG00000167232		"Zinc fingers, C2H2-type", "-"	13166	protein-coding gene	gene with protein product		603971	"zinc finger protein 91 (HPF7, HTF10)"			2023909, 2505992	Standard	XR_430154		Approved	HPF7, HTF10	uc002nre.3	Q05481	OTTHUMG00000183268	ENST00000300619.7:c.921A>T	19.37:g.23544860T>A						ZNF91_ENST00000397082.2_Silent_p.S275S|ZNF91_ENST00000599743.1_Intron	p.S307S	NM_003430.2	NP_003421.2	Q05481	ZNF91_HUMAN			4	1126	-		all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)	307					A8K5E1|B7Z6G6	Silent	SNP	ENST00000300619.7	37	c.921A>T	CCDS42541.1																																																																																				0.398	ZNF91-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465891.1	NM_003430		53	81	0	0	0	1	0	53	81					A	23544860	T	A	23544860	2	1	292	1	0	0	0	0	0	0	0	1	18197	1799	63	5		5	ZNF91	19	23544860	Silent	SNP	T	TCGA-J9-A8CN-01A-11D-A34U-08	6933067	23544860	35584123	25	14116											
KLK15	55554	broad.mit.edu	37	chr19	51330248	51330248	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgtgggtagcaccgcggggcGcacctgggggttcaggcgtg	4	6	20	11	5	1	0	1	0	0	0	1	0	1	0	2	6	1	4	2	6	1	2	rs571715638		TCGA-J9-A8CN-01A-11D-A34U-08	TCGA-J9-A8CN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7211918-5718-4053-bdf8-ec5b69c3c95e	a6cf8216-0d6d-4835-b09e-04ee0ae4841c	g.chr19:51330248G>A	ENST00000598239.1	-	3	397	c.367C>T	c.(367-369)Cgc>Tgc	p.R123C	KLK15_ENST00000301421.2_Missense_Mutation_p.R123C|KLK15_ENST00000596931.1_Missense_Mutation_p.R122C|KLK15_ENST00000416184.1_Intron|KLK15_ENST00000326856.4_Missense_Mutation_p.R122C	NM_017509.2	NP_059979.2	Q9H2R5	KLK15_HUMAN	kallikrein-related peptidase 15	123	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)	p.R123S(1)		breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(12)|skin(2)|upper_aerodigestive_tract(1)	24		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00758)|GBM - Glioblastoma multiforme(134;0.0143)		ACCGCGGGGCGCACCTGGGGG	0.701													G|||	1	0.000199681	0	0.0014	5008	,	,		15409	0		0	False		,,,				2504	0				Pancreas(140;10 2513 7143 9246)	ENST00000326856.4																			1	Substitution - Missense(1)	p.R123S(1)	lung(1)	breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(12)|skin(2)|upper_aerodigestive_tract(1)	24						c.(364-366)Cgc>Tgc		kallikrein-related peptidase 15							41	41	41					19																	51330248		2203	4300	6503	SO:0001583	missense	55554				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr19:51330248G>A	AF242195	CCDS12805.1, CCDS12806.1, CCDS12806.2, CCDS62766.1	19q13.4	2008-02-05	2006-10-27			ENSG00000174562		"Kallikreins"	20453	protein-coding gene	gene with protein product		610601	"kallikrein 15"			11010966, 12439720, 16800724, 16800723	Standard	NM_017509		Approved	HSRNASPH, ACO, prostinogen	uc002ptl.3	Q9H2R5		ENST00000598239.1:c.367C>T	19.37:g.51330248G>A	ENSP00000469315:p.Arg123Cys					KLK15_ENST00000598239.1_Missense_Mutation_p.R123C|KLK15_ENST00000301421.2_Missense_Mutation_p.R123C|KLK15_ENST00000416184.1_Intron|KLK15_ENST00000596931.1_Missense_Mutation_p.R122C	p.R122C	NM_001277081.1	NP_001264010.1	Q9H2R5	KLK15_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00758)|GBM - Glioblastoma multiforme(134;0.0143)	4	493	-		all_neural(266;0.057)	123			Peptidase S1.		A0AUY8|Q15358|Q6ISI0|Q9H2R3|Q9H2R4|Q9H2R6|Q9HBG9	Missense_Mutation	SNP	ENST00000598239.1	37	c.364C>T	CCDS12805.1	.	.	.	.	.	.	.	.	.	.	g	19.11	3.763442	0.69763	.	.	ENSG00000174562	ENST00000326856;ENST00000301421;ENST00000544946	D	0.89746	-2.56	4.5	2.32	0.28847	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.509034	0.17019	N	0.190199	D	0.93158	0.7821	M	0.86864	2.845	0.39279	D	0.964538	P;P;D	0.76494	0.816;0.834;0.999	B;B;D	0.67725	0.126;0.318;0.953	D	0.91382	0.5128	10	0.72032	D	0.01	.	5.4883	0.16761	0.096:0.0:0.5293:0.3747	.	123;122;123	Q6UBM2;Q6ISI0;Q9H2R5	.;.;KLK15_HUMAN	C	123	ENSP00000301421:R123C	ENSP00000301421:R123C	R	-	1	0	KLK15	56022060	0.005000	0.15991	0.488000	0.27440	0.285000	0.27093	1.134000	0.31442	0.608000	0.30000	0.555000	0.69702	CGC		0.701	KLK15-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465160.1	NM_017509		18	64	0	0	0	1	0	18	64					A	51330248	G	A	51330248	3	1	292	1	0	0	0	0	1	0	0	0	8403	1087	38	1	415	1	KLK15	19	51330248	Missense_Mutation	SNP	G	TCGA-J9-A8CN-01A-11D-A34U-08	27785388	51330248	7798735	26	14117											
SIGLEC5	8778	broad.mit.edu	37	chr19	52115643	52115643	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggaggagatgcttgatctccGgggctgtctggccagggctt	5	10	17	9	1	2	2	0	1	2	1	3	4	2	3	2	6	1	3	2	6	0	2	rs141897891	byFrequency	TCGA-J9-A8CN-01A-11D-A34U-08	TCGA-J9-A8CN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7211918-5718-4053-bdf8-ec5b69c3c95e	a6cf8216-0d6d-4835-b09e-04ee0ae4841c	g.chr19:52115643G>A	ENST00000534261.2	-	10	1896	c.1497C>T	c.(1495-1497)ccC>ccT	p.P499P	SIGLEC5_ENST00000429354.3_Silent_p.P499P|SIGLEC5_ENST00000222107.4_Silent_p.P499P|SIGLEC5_ENST00000599649.1_Silent_p.P499P|SIGLEC5_ENST00000570106.2_Silent_p.P499P			O15389	SIGL5_HUMAN	sialic acid binding Ig-like lectin 5	499			P -> A (in dbSNP:rs3829655). {ECO:0000269|PubMed:15489334}.		cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|large_intestine(4)|lung(9)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27		all_neural(266;0.0726)		GBM - Glioblastoma multiforme(134;0.00124)|OV - Ovarian serous cystadenocarcinoma(262;0.0218)		CTTGATCTCCGGGGCTGTCTG	0.507													A|||	4	0.000798722	0.003	0	5008	,	,		19083	0		0	False		,,,				2504	0					ENST00000222107.4																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|large_intestine(4)|lung(9)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27						c.(1495-1497)ccC>ccT		sialic acid binding Ig-like lectin 5		A		5,4401	822.8+/-416.5	0,5,2198	73	77	76		1497	-6.3	0	19	dbSNP_134	76	0,8600		0,0,4300	no	coding-synonymous	SIGLEC5	NM_003830.2		0,5,6498	AA,AG,GG		0.0,0.1135,0.0384		499/552	52115643	5,13001	2203	4300	6503	SO:0001819	synonymous_variant	8778				cell adhesion	integral to membrane	sugar binding	g.chr19:52115643G>A	U71383	CCDS33088.1	19q13.41	2013-01-29			ENSG00000105501	ENSG00000105501		"Sialic acid binding Ig-like lectins", "CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	10874	protein-coding gene	gene with protein product		604200		CD33L2		10343116	Standard	NM_003830		Approved	OB-BP2, SIGLEC-5, CD170	uc002pxe.4	O15389	OTTHUMG00000165510	ENST00000534261.2:c.1497C>T	19.37:g.52115643G>A						SIGLEC5_ENST00000570106.2_Silent_p.P499P|SIGLEC5_ENST00000534261.2_Silent_p.P499P|SIGLEC5_ENST00000599649.1_Silent_p.P499P|SIGLEC5_ENST00000429354.3_Silent_p.P499P	p.P499P			O15389	SIGL5_HUMAN		GBM - Glioblastoma multiforme(134;0.00124)|OV - Ovarian serous cystadenocarcinoma(262;0.0218)	9	1635	-		all_neural(266;0.0726)	499		P -> A (in dbSNP:rs3829655).				Silent	SNP	ENST00000534261.2	37	c.1497C>T	CCDS33088.1																																																																																				0.507	SIGLEC5-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466897.2	NM_003830		35	37	0	0	0	1	0	35	37					A	52115643	G	A	52115643	2	1	292	1	0	0	0	0	0	0	0	1	14311	1103	39	2		2	SIGLEC5	19	52115643	Silent	SNP	G	TCGA-J9-A8CN-01A-11D-A34U-08	785395	52115643	7013340	27	14118											
ZNF347	84671	broad.mit.edu	37	chr19	53644386	53644386	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttacatttgtaaggtttttcTccagtatggatgacctgatg	9	17	9	6	0	1	2	0	2	1	0	2	3	1	3	2	2	1	3	2	2	3	6			TCGA-J9-A8CN-01A-11D-A34U-08	TCGA-J9-A8CN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7211918-5718-4053-bdf8-ec5b69c3c95e	a6cf8216-0d6d-4835-b09e-04ee0ae4841c	g.chr19:53644386T>A	ENST00000334197.7	-	5	1763	c.1695A>T	c.(1693-1695)ggA>ggT	p.G565G	ZNF347_ENST00000452676.2_Silent_p.G566G|ZNF347_ENST00000601804.1_Intron|ZNF347_ENST00000601469.2_Silent_p.G566G	NM_032584.2	NP_115973.2	Q96SE7	ZN347_HUMAN	zinc finger protein 347	565					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|prostate(3)|skin(1)	23				GBM - Glioblastoma multiforme(134;0.0179)		AAGGTTTTTCTCCAGTATGGA	0.408																																					Melanoma(64;205 1597 17324 45721)	ENST00000452676.2																			0				endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|prostate(3)|skin(1)	23						c.(1696-1698)ggA>ggT		zinc finger protein 347							156	149	152					19																	53644386		2203	4300	6503	SO:0001819	synonymous_variant	84671				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53644386T>A	AY029765	CCDS33097.1, CCDS54314.1	19q13.3	2013-01-08				ENSG00000197937		"Zinc fingers, C2H2-type", "-"	16447	protein-coding gene	gene with protein product							Standard	NM_032584		Approved	ZNF1111	uc010eql.2	Q96SE7		ENST00000334197.7:c.1695A>T	19.37:g.53644386T>A						ZNF347_ENST00000601469.2_Silent_p.G566G|ZNF347_ENST00000601804.1_Intron|ZNF347_ENST00000334197.7_Silent_p.G565G	p.G566G	NM_001172674.1	NP_001166145.1	Q96SE7	ZN347_HUMAN		GBM - Glioblastoma multiforme(134;0.0179)	5	2124	-			565					B3KU77|B9EG59|G5E9N4|Q8TCN1	Silent	SNP	ENST00000334197.7	37	c.1698A>T	CCDS33097.1																																																																																				0.408	ZNF347-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000464170.1	NM_032584		5	252	0	0	0	1	0	5	252					A	53644386	T	A	53644386	2	1	292	1	0	0	0	0	0	0	0	1	17858	1538	54	5		5	ZNF347	19	53644386	Silent	SNP	T	TCGA-J9-A8CN-01A-11D-A34U-08	1528743	53644386	5484597	28	14119											
FOXA2	3170	broad.mit.edu	37	chr20	22562677	22562677	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aggtccattttgtggggttgGtggtggtggtggctgtggtg	2	15	21	3	0	0	0	0	0	0	0	1	0	1	0	1	9	0	2	1	9	0	3			TCGA-J9-A8CN-01A-11D-A34U-08	TCGA-J9-A8CN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7211918-5718-4053-bdf8-ec5b69c3c95e	a6cf8216-0d6d-4835-b09e-04ee0ae4841c	g.chr20:22562677G>C	ENST00000377115.4	-	3	1366	c.1185C>G	c.(1183-1185)caC>caG	p.H395Q	FOXA2_ENST00000419308.2_Missense_Mutation_p.H401Q	NM_153675.2	NP_710141.1	Q9Y261	FOXA2_HUMAN	forkhead box A2	395	Transactivation domain 2. {ECO:0000250}.				adult locomotory behavior (GO:0008344)|cell development (GO:0048468)|cell differentiation in hindbrain (GO:0021533)|cell fate specification (GO:0001708)|chromatin modification (GO:0016568)|connective tissue development (GO:0061448)|dopaminergic neuron differentiation (GO:0071542)|dorsal/ventral neural tube patterning (GO:0021904)|ectoderm formation (GO:0001705)|endocrine pancreas development (GO:0031018)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|in utero embryonic development (GO:0001701)|lung epithelial cell differentiation (GO:0060487)|negative regulation of detection of glucose (GO:2000971)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of glucokinase activity (GO:0033132)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter by glucose (GO:0000433)|neuron fate specification (GO:0048665)|positive regulation of cell-cell adhesion mediated by cadherin (GO:2000049)|positive regulation of embryonic development (GO:0040019)|positive regulation of gastrulation (GO:2000543)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter by glucose (GO:0000432)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of transcription, DNA-templated (GO:0045893)|primitive streak formation (GO:0090009)|regulation of blood coagulation (GO:0030193)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|regulation of steroid metabolic process (GO:0019218)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase II promoter involved in detection of glucose (GO:2000976)|response to interleukin-6 (GO:0070741)|signal transduction involved in regulation of gene expression (GO:0023019)|somite rostral/caudal axis specification (GO:0032525)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(1)|lung(3)|ovary(2)|prostate(2)|urinary_tract(1)	22	Lung NSC(19;0.188)					TGTGGGGTtggtggtggtggt	0.612																																						ENST00000419308.2																			0				breast(1)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(1)|lung(3)|ovary(2)|prostate(2)|urinary_tract(1)	22						c.(1183-1185)caC>caG		forkhead box A2							160	156	158					20																	22562677		2203	4300	6503	SO:0001583	missense	3170				cell differentiation in hindbrain|central nervous system myelin formation|chromatin modification|dorsal/ventral neural tube patterning|ectoderm formation|endocrine pancreas development|endoderm development|epithelial tube branching involved in lung morphogenesis|in utero embryonic development|lung epithelial cell differentiation|negative regulation of neuron differentiation|neuron fate specification|oligodendrocyte cell fate commitment|positive regulation of embryonic development|positive regulation of gastrulation|positive regulation of neuron differentiation|primitive streak formation|regulation of blood coagulation|regulation of sequence-specific DNA binding transcription factor activity|response to interleukin-6	cytoplasm|transcription factor complex	DNA bending activity|double-stranded DNA binding|protein domain specific binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chr20:22562677G>C	AF147787	CCDS13147.1, CCDS46585.1	20p11	2008-04-10		2002-09-20	ENSG00000125798	ENSG00000125798		"Forkhead boxes"	5022	protein-coding gene	gene with protein product		600288	"hepatocyte nuclear factor 3, beta"	HNF3B		9119385, 11875061	Standard	NM_153675		Approved		uc002wsm.3	Q9Y261	OTTHUMG00000032041	ENST00000377115.4:c.1185C>G	20.37:g.22562677G>C	ENSP00000366319:p.His395Gln					FOXA2_ENST00000377115.4_Missense_Mutation_p.H395Q|FOXA2_ENST00000319993.4_Missense_Mutation_p.H401Q	p.H395Q	NM_021784.4	NP_068556.2	Q9Y261	FOXA2_HUMAN			2	1387	-	Lung NSC(19;0.188)		395			Transactivation domain 2 (By similarity).		Q8WUW4|Q96DF7	Missense_Mutation	SNP	ENST00000377115.4	37	c.1185C>G	CCDS13147.1	.	.	.	.	.	.	.	.	.	.	G	5.824	0.336270	0.11013	.	.	ENSG00000125798	ENST00000377115;ENST00000419308;ENST00000319993;ENST00000444877	D;D;D	0.89485	-2.51;-2.51;-2.52	4.15	-0.0701	0.13748	Forkhead box protein, C-terminal (1);	.	.	.	.	T	0.81451	0.4825	L	0.36672	1.1	0.32494	N	0.539792	B;B	0.14805	0.011;0.011	B;B	0.14023	0.01;0.01	T	0.74278	-0.3717	9	0.40728	T	0.16	.	8.4046	0.32608	0.4526:0.0:0.5474:0.0	.	395;401	Q9Y261;B0ZTD4	FOXA2_HUMAN;.	Q	395;395;401;281	ENSP00000366319:H395Q;ENSP00000400341:H395Q;ENSP00000315955:H401Q	ENSP00000315955:H401Q	H	-	3	2	FOXA2	22510677	1.000000	0.71417	0.999000	0.59377	0.517000	0.34286	1.203000	0.32284	0.134000	0.18681	-0.348000	0.07805	CAC		0.612	FOXA2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000078289.1			3	41	0	0	0	1	0	3	41					C	22562677	G	C	22562677	3	2	292	1	0	0	0	0	1	0	0	0	5990	1252	44	5	192	5	FOXA2	20	22562677	Missense_Mutation	SNP	G	TCGA-J9-A8CN-01A-11D-A34U-08		22562677	40462843	29	14120											
CDH4	1002	broad.mit.edu	37	chr20	60485514	60485514	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgaaaaccgcgtggagaccGtggtcgcaaacctcacggtg	10	5	13	13	6	1	1	1	0	0	1	2	3	1	1	4	3	2	1	4	3	3	0	rs557605363	byFrequency	TCGA-J9-A8CN-01A-11D-A34U-08	TCGA-J9-A8CN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7211918-5718-4053-bdf8-ec5b69c3c95e	a6cf8216-0d6d-4835-b09e-04ee0ae4841c	g.chr20:60485514G>A	ENST00000360469.5	+	9	1313	c.1225G>A	c.(1225-1227)Gtg>Atg	p.V409M	CDH4_ENST00000543233.1_Missense_Mutation_p.V335M	NM_001794.3	NP_001785.2	P55283	CADH4_HUMAN	cadherin 4, type 1, R-cadherin (retinal)	409	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74			BRCA - Breast invasive adenocarcinoma(19;2.36e-08)			CGTGGAGACCGTGGTCGCAAA	0.532													G|||	3	0.000599042	0	0	5008	,	,		21776	0.003		0	False		,,,				2504	0					ENST00000360469.5																			0				NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74						c.(1225-1227)Gtg>Atg		cadherin 4, type 1, R-cadherin (retinal)							103	82	90					20																	60485514		2203	4300	6503	SO:0001583	missense	1002				adherens junction organization|cell junction assembly		calcium ion binding	g.chr20:60485514G>A	L34059	CCDS13488.1, CCDS58784.1	20q13.3	2010-01-26			ENSG00000179242	ENSG00000179242		"Cadherins / Major cadherins"	1763	protein-coding gene	gene with protein product	"R-Cadherin"	603006				10191097, 10516427	Standard	NM_001794		Approved		uc002ybn.2	P55283	OTTHUMG00000032890	ENST00000360469.5:c.1225G>A	20.37:g.60485514G>A	ENSP00000353656:p.Val409Met					CDH4_ENST00000543233.1_Missense_Mutation_p.V335M	p.V409M	NM_001794.3	NP_001785.2	P55283	CADH4_HUMAN	BRCA - Breast invasive adenocarcinoma(19;2.36e-08)		9	1313	+			409			Cadherin 3.		B3KWB8|G3V1P8|Q2M208|Q5VZ44|Q9BZ05	Missense_Mutation	SNP	ENST00000360469.5	37	c.1225G>A	CCDS13488.1	.	.	.	.	.	.	.	.	.	.	G	11.24	1.579965	0.28180	.	.	ENSG00000179242	ENST00000360469;ENST00000536643;ENST00000543233	T;T	0.52295	0.67;0.67	4.67	4.67	0.58626	Cadherin (3);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.68559	0.3014	M	0.74546	2.27	0.58432	D	0.999999	D	0.89917	1.0	D	0.80764	0.994	T	0.71144	-0.4678	9	.	.	.	.	17.1517	0.86780	0.0:0.0:1.0:0.0	.	409	P55283	CADH4_HUMAN	M	409;317;335	ENSP00000353656:V409M;ENSP00000443301:V335M	.	V	+	1	0	CDH4	59918909	1.000000	0.71417	0.705000	0.30386	0.109000	0.19521	3.658000	0.54482	2.149000	0.67028	0.561000	0.74099	GTG		0.532	CDH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079965.2	NM_001794		16	23	0	0	0	1	0	16	23					A	60485514	G	A	60485514	3	1	292	1	0	0	0	0	1	0	0	0	3112	1145	40	1	1259	1	CDH4	20	60485514	Missense_Mutation	SNP	G	TCGA-J9-A8CN-01A-11D-A34U-08	37922837	60485514	2540006	30	14121											
PFKL	5211	broad.mit.edu	37	chr21	45745845	45745845	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gggcctcacctgtttccaggGtggcgctccaaccccctttg	4	10	11	16	1	1	0	1	0	0	0	3	0	3	0	6	3	1	2	6	3	1	2			TCGA-J9-A8CN-01A-11D-A34U-08	TCGA-J9-A8CN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7211918-5718-4053-bdf8-ec5b69c3c95e	a6cf8216-0d6d-4835-b09e-04ee0ae4841c	g.chr21:45745845G>A	ENST00000349048.4	+	20	2046	c.1991G>A	c.(1990-1992)gGt>gAt	p.G664D	AP001062.8_ENST00000422357.1_RNA|PFKL_ENST00000403390.1_Splice_Site_p.G711D	NM_002626.4	NP_002617.3	P17858	PFKAL_HUMAN	phosphofructokinase, liver	664	C-terminal regulatory PFK domain 2.				carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|fructose 1,6-bisphosphate metabolic process (GO:0030388)|fructose 6-phosphate metabolic process (GO:0006002)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|negative regulation of insulin secretion (GO:0046676)|protein homotetramerization (GO:0051289)|protein oligomerization (GO:0051259)|response to glucose (GO:0009749)|small molecule metabolic process (GO:0044281)	6-phosphofructokinase complex (GO:0005945)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	6-phosphofructokinase activity (GO:0003872)|ATP binding (GO:0005524)|fructose binding (GO:0070061)|fructose-6-phosphate binding (GO:0070095)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|metal ion binding (GO:0046872)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	23				Colorectal(79;0.0811)		TGTTTCCAGGGTGGCGCTCCA	0.657																																						ENST00000403390.1																			0				cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	23						c.e21-1		phosphofructokinase, liver							65	59	61					21																	45745845		2203	4300	6503	SO:0001630	splice_region_variant	5211				fructose 6-phosphate metabolic process|glycolysis|protein oligomerization	6-phosphofructokinase complex	6-phosphofructokinase activity|ATP binding|fructose-6-phosphate binding|identical protein binding|kinase binding|metal ion binding	g.chr21:45745845G>A		CCDS33582.1	21q22.3	1992-12-17			ENSG00000141959	ENSG00000141959	2.7.1.11		8876	protein-coding gene	gene with protein product		171860					Standard	NR_024108		Approved		uc002zel.3	P17858	OTTHUMG00000086910	ENST00000349048.4:c.1990-1G>A	21.37:g.45745845G>A						PFKL_ENST00000349048.4_Splice_Site_p.G664_splice	p.G711_splice			P17858	K6PL_HUMAN		Colorectal(79;0.0811)	21	2132	+			664					Q96A64|Q96IH4|Q9BR91	Splice_Site	SNP	ENST00000349048.4	37	c.2130_splice	CCDS33582.1	.	.	.	.	.	.	.	.	.	.	G	17.33	3.363641	0.61513	.	.	ENSG00000141959	ENST00000349048;ENST00000534847;ENST00000403390	D;D	0.88509	-2.39;-2.39	4.13	4.13	0.48395	Phosphofructokinase domain (2);Phosphofructokinase, conserved site (1);	0.058141	0.64402	D	0.000002	D	0.96950	0.9004	H	0.99197	4.465	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.98766	1.0726	10	0.87932	D	0	-15.6276	15.5329	0.75977	0.0:0.0:1.0:0.0	.	664;711	P17858;P17858-2	K6PL_HUMAN;.	D	664;457;711	ENSP00000269848:G664D;ENSP00000384038:G711D	ENSP00000269848:G664D	G	+	2	0	PFKL	44570273	1.000000	0.71417	0.926000	0.36857	0.085000	0.17905	9.259000	0.95561	2.047000	0.60756	0.491000	0.48974	GGT		0.657	PFKL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195805.1		Missense_Mutation	7	8	0	0	0	1	0	7	8					A	45745845	G	A	45745845	5	1	292	1	0	0	0	0	0	0	1	0	11764	1275	44	3	2069	3	PFKL	21	45745845	Splice_Site	SNP	G	TCGA-J9-A8CN-01A-11D-A34U-08		45745845	2384050	31	14122											
PPOX	5498	broad.mit.edu	37	chr1	161140216	161140216	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagggatttggacatttggtGccatcttcagaagatccagg	10	11	12	8	0	2	2	1	0	1	2	3	4	3	4	2	4	1	0	2	4	1	3			TCGA-J9-A8CP-01A-11D-A34U-08	TCGA-J9-A8CP-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6fc7ff0-f510-4b66-b422-4e9a5c0552d6	38604397-3014-4f48-9b92-dbdb45f28a33	g.chr1:161140216G>A	ENST00000367999.4	+	10	1271	c.1005G>A	c.(1003-1005)gtG>gtA	p.V335V	PPOX_ENST00000544598.1_Intron|PPOX_ENST00000495483.1_3'UTR|PPOX_ENST00000432542.2_Silent_p.V80V|PPOX_ENST00000352210.5_Silent_p.V335V|B4GALT3_ENST00000470882.1_5'Flank|PPOX_ENST00000535223.1_Intron	NM_001122764.1	NP_001116236.1	P50336	PPOX_HUMAN	protoporphyrinogen oxidase	335			V -> G (in VP; strongly decreases enzyme activity; impairs protein folding and/or stability). {ECO:0000269|PubMed:10486317}.		heme biosynthetic process (GO:0006783)|oxidation-reduction process (GO:0055114)|porphyrin-containing compound biosynthetic process (GO:0006779)|porphyrin-containing compound metabolic process (GO:0006778)|protoporphyrinogen IX biosynthetic process (GO:0006782)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)	integral component of mitochondrial inner membrane (GO:0031305)|intrinsic component of mitochondrial inner membrane (GO:0031304)|mitochondrial intermembrane space (GO:0005758)|mitochondrial membrane (GO:0031966)	flavin adenine dinucleotide binding (GO:0050660)|oxygen-dependent protoporphyrinogen oxidase activity (GO:0004729)			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(3)	15	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			GACATTTGGTGCCATCTTCAG	0.547																																						ENST00000367999.4																			0				breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(3)	15						c.(1003-1005)gtG>gtA		protoporphyrinogen oxidase							92	85	88					1																	161140216		2203	4300	6503	SO:0001819	synonymous_variant	5498				heme biosynthetic process	intrinsic to mitochondrial inner membrane|mitochondrial intermembrane space	flavin adenine dinucleotide binding|oxygen-dependent protoporphyrinogen oxidase activity	g.chr1:161140216G>A	BC002357	CCDS1221.1	1q22	2008-02-05			ENSG00000143224	ENSG00000143224	1.3.3.4		9280	protein-coding gene	gene with protein product		600923	"variegate porphyria"	VP		8575762, 10457135	Standard	NM_000309		Approved	PPO	uc001fyg.2	P50336	OTTHUMG00000034342	ENST00000367999.4:c.1005G>A	1.37:g.161140216G>A						PPOX_ENST00000495483.1_3'UTR|PPOX_ENST00000432542.2_Silent_p.V80V|PPOX_ENST00000352210.5_Silent_p.V335V|PPOX_ENST00000544598.1_Intron|PPOX_ENST00000535223.1_Intron	p.V335V	NM_001122764.1	NP_001116236.1	P50336	PPOX_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00275)		10	1271	+	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		335					D3DVG0|Q5VTW8	Silent	SNP	ENST00000367999.4	37	c.1005G>A	CCDS1221.1	.	.	.	.	.	.	.	.	.	.	G	13.60	2.285635	0.40394	.	.	ENSG00000143224	ENST00000537523;ENST00000537829	.	.	.	5.43	3.54	0.40534	.	.	.	.	.	T	0.44871	0.1314	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.42481	-0.9449	4	.	.	.	-23.0024	8.3615	0.32361	0.1797:0.0:0.8203:0.0	.	.	.	.	Y	88;58	.	.	C	+	2	0	PPOX	159406840	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	0.804000	0.27098	1.533000	0.49186	0.650000	0.86243	TGC		0.547	PPOX-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000082993.1	NM_000309		23	42	0	0	0	1	0	23	42					A	161140216	G	A	161140216	2	1	293	1	0	0	0	0	0	0	0	1	12348	1306	46	3		3	PPOX	1	161140216	Silent	SNP	G	TCGA-J9-A8CP-01A-11D-A34U-08		161140216	88110405	1	14123											
USH2A	7399	broad.mit.edu	37	chr1	216243582	216243582	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcatcccaggtcacctcaatGctgtatccatttaagctgcg	9	12	7	13	1	3	0	3	0	0	0	5	0	5	0	3	1	3	3	3	1	3	3			TCGA-J9-A8CP-01A-11D-A34U-08	TCGA-J9-A8CP-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6fc7ff0-f510-4b66-b422-4e9a5c0552d6	38604397-3014-4f48-9b92-dbdb45f28a33	g.chr1:216243582G>C	ENST00000307340.3	-	30	6296	c.5910C>G	c.(5908-5910)agC>agG	p.S1970R	RP11-22M7.2_ENST00000430890.1_RNA|RP11-22M7.2_ENST00000445619.1_RNA|USH2A_ENST00000366943.2_Missense_Mutation_p.S1970R|RP11-22M7.2_ENST00000446411.1_RNA	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	1970	Fibronectin type-III 6. {ECO:0000255|PROSITE-ProRule:PRU00316}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TCACCTCAATGCTGTATCCAT	0.478										HNSCC(13;0.011)																												ENST00000366943.2																			0				NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527						c.(5908-5910)agC>agG		Usher syndrome 2A (autosomal recessive, mild)							120	105	110					1																	216243582		2203	4300	6503	SO:0001583	missense	7399				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	g.chr1:216243582G>C	AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"Fibronectin type III domain containing"	12601	protein-coding gene	gene with protein product	"usherin"	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.5910C>G	1.37:g.216243582G>C	ENSP00000305941:p.Ser1970Arg	HNSCC(13;0.011)				USH2A_ENST00000307340.3_Missense_Mutation_p.S1970R	p.S1970R			O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	30	6296	-			1970			Fibronectin type-III 6.		Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	c.5910C>G	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	G	13.96	2.393849	0.42410	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	T;T	0.62639	0.01;0.01	5.44	0.924	0.19418	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.50627	U	0.000107	T	0.74779	0.3761	M	0.86178	2.8	0.25388	N	0.988555	D	0.71674	0.998	D	0.69824	0.966	T	0.64474	-0.6399	10	0.72032	D	0.01	.	5.4094	0.16341	0.4082:0.134:0.4578:0.0	.	1970	O75445	USH2A_HUMAN	R	1970	ENSP00000305941:S1970R;ENSP00000355910:S1970R	ENSP00000305941:S1970R	S	-	3	2	USH2A	214310205	0.890000	0.30428	0.000000	0.03702	0.995000	0.86356	1.297000	0.33400	-0.023000	0.13963	0.557000	0.71058	AGC		0.478	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		3	67	0	0	0	1	0	3	67					C	216243582	G	C	216243582	3	2	293	1	0	0	0	0	1	0	0	0	17033	1310	46	5	9870	5	USH2A	1	216243582	Missense_Mutation	SNP	G	TCGA-J9-A8CP-01A-11D-A34U-08	55103366	216243582	33007039	2	14124											
NBAS	51594	broad.mit.edu	37	chr2	15415631	15415631	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggtcacagcttttggagaaaAtgtaactgcatctaccacag	13	10	9	9	0	2	1	1	0	1	1	2	2	2	1	1	2	4	3	1	2	4	4			TCGA-J9-A8CP-01A-11D-A34U-08	TCGA-J9-A8CP-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6fc7ff0-f510-4b66-b422-4e9a5c0552d6	38604397-3014-4f48-9b92-dbdb45f28a33	g.chr2:15415631A>C	ENST00000281513.5	-	44	5726	c.5701T>G	c.(5701-5703)Ttt>Gtt	p.F1901V	NBAS_ENST00000441750.1_Missense_Mutation_p.F1781V	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN	neuroblastoma amplified sequence	1901					negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:2000623)|nuclear-transcribed mRNA catabolic process (GO:0000956)	cytoplasm (GO:0005737)|membrane (GO:0016020)				NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						TTTGGAGAAAATGTAACTGCA	0.403																																						ENST00000281513.5																			0				NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						c.(5701-5703)Ttt>Gtt		neuroblastoma amplified sequence							67	66	66					2																	15415631		2203	4300	6503	SO:0001583	missense	51594							g.chr2:15415631A>C	BC051792	CCDS1685.1	2p24.3	2009-02-23			ENSG00000151779	ENSG00000151779			15625	protein-coding gene	gene with protein product		608025				9926938, 12706883	Standard	NM_015909		Approved	NAG	uc002rcc.2	A2RRP1	OTTHUMG00000121153	ENST00000281513.5:c.5701T>G	2.37:g.15415631A>C	ENSP00000281513:p.Phe1901Val					NBAS_ENST00000441750.1_Missense_Mutation_p.F1781V	p.F1901V	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN			44	5726	-			1901					O95790|Q2VPJ7|Q53TK6|Q86V39|Q8NFY8|Q9Y3W5	Missense_Mutation	SNP	ENST00000281513.5	37	c.5701T>G	CCDS1685.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	21.0|21.0	4.081435|4.081435	0.76528|0.76528	.|.	.|.	ENSG00000151779|ENSG00000151779	ENST00000441750;ENST00000281513|ENST00000442506	T;T|.	0.27256|.	1.68;1.92|.	5.76|5.76	5.76|5.76	0.90799|0.90799	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.74512|0.74512	0.3726|0.3726	M|M	0.72118|0.72118	2.19|2.19	0.80722|0.80722	D|D	1|1	D;D|.	0.76494|.	0.999;0.998|.	D;D|.	0.72338|.	0.977;0.928|.	T|T	0.74182|0.74182	-0.3748|-0.3748	10|5	0.87932|.	D|.	0|.	.|.	16.3768|16.3768	0.83409|0.83409	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	1781;1901|.	A2RRP1-2;A2RRP1|.	.;NBAS_HUMAN|.	V|Q	1781;1901|948	ENSP00000413201:F1781V;ENSP00000281513:F1901V|.	ENSP00000281513:F1901V|.	F|H	-|-	1|3	0|2	NBAS|NBAS	15333082|15333082	1.000000|1.000000	0.71417|0.71417	0.955000|0.955000	0.39395|0.39395	0.885000|0.885000	0.51271|0.51271	6.824000|6.824000	0.75288|0.75288	2.333000|2.333000	0.79357|0.79357	0.482000|0.482000	0.46254|0.46254	TTT|CAT		0.403	NBAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241638.1	NM_015909		14	45	0	0	0	1	0	14	45					C	15415631	A	C	15415631	3	2	293	1	0	0	0	0	1	0	0	0	10186	101	4	5	1450	5	NBAS	2	15415631	Missense_Mutation	SNP	A	TCGA-J9-A8CP-01A-11D-A34U-08		15415631	227783742	3	14125											
POLR1A	25885	broad.mit.edu	37	chr2	86305380	86305380	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aagtgtactcaaaaaggatcGgtcaatagcaatcaaagagt	18	8	9	6	1	3	1	3	0	0	1	4	2	3	2	0	2	2	2	0	2	8	2			TCGA-J9-A8CP-01A-11D-A34U-08	TCGA-J9-A8CP-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6fc7ff0-f510-4b66-b422-4e9a5c0552d6	38604397-3014-4f48-9b92-dbdb45f28a33	g.chr2:86305380G>C	ENST00000263857.6	-	10	1492	c.1114C>G	c.(1114-1116)Cga>Gga	p.R372G	POLR1A_ENST00000409681.1_Missense_Mutation_p.R372G			O95602	RPA1_HUMAN	polymerase (RNA) I polypeptide A, 194kDa	372					gene expression (GO:0010467)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase I complex (GO:0005736)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	63						AAAAAGGATCGGTCAATAGCA	0.403																																						ENST00000263857.6																			0				NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	63						c.(1114-1116)Cga>Gga		polymerase (RNA) I polypeptide A, 194kDa							117	105	109					2																	86305380		1870	4104	5974	SO:0001583	missense	25885				termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	DNA-directed RNA polymerase I complex|nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|protein binding|zinc ion binding	g.chr2:86305380G>C	AK025568	CCDS42706.1	2p11.2	2013-01-21			ENSG00000068654	ENSG00000068654		"RNA polymerase subunits"	17264	protein-coding gene	gene with protein product						9236775	Standard	NM_015425		Approved	DKFZP586M0122, FLJ21915, RPO1-4, RPA1	uc002sqs.3	O95602	OTTHUMG00000153165	ENST00000263857.6:c.1114C>G	2.37:g.86305380G>C	ENSP00000263857:p.Arg372Gly					POLR1A_ENST00000409681.1_Missense_Mutation_p.R372G	p.R372G			O95602	RPA1_HUMAN			10	1492	-			372					B7Z7T0|D6W5M0|Q0VG05|Q9UEH0|Q9UFT9	Missense_Mutation	SNP	ENST00000263857.6	37	c.1114C>G	CCDS42706.1	.	.	.	.	.	.	.	.	.	.	G	11.78	1.740650	0.30865	.	.	ENSG00000068654	ENST00000263857;ENST00000409681	T;T	0.68181	-0.31;-0.31	5.22	3.43	0.39272	RNA polymerase, N-terminal (1);	0.121727	0.56097	D	0.000021	T	0.68723	0.3032	M	0.74881	2.28	0.44515	D	0.997468	B;P	0.46621	0.004;0.881	B;B	0.43274	0.017;0.414	T	0.73500	-0.3963	10	0.72032	D	0.01	-14.0964	14.4924	0.67660	0.0:0.0:0.7317:0.2683	.	372;372	B9ZVN9;O95602	.;RPA1_HUMAN	G	372	ENSP00000263857:R372G;ENSP00000386300:R372G	ENSP00000263857:R372G	R	-	1	2	POLR1A	86158891	1.000000	0.71417	0.993000	0.49108	0.078000	0.17371	4.826000	0.62715	0.696000	0.31696	-1.089000	0.02181	CGA		0.403	POLR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329830.2	NM_015425		7	65	0	0	0	1	0	7	65					C	86305380	G	C	86305380	3	2	293	1	0	0	0	0	1	0	0	0	12209	1124	39	5	4148	5	POLR1A	2	86305380	Missense_Mutation	SNP	G	TCGA-J9-A8CP-01A-11D-A34U-08	70889749	86305380	156893993	4	14126											
DNAH7	56171	broad.mit.edu	37	chr2	196737041	196737041	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctggtcttgacaaacaaacaCcttgaatgacacgggagaaa	16	7	9	9	1	1	4	0	3	1	1	1	5	1	4	1	2	2	0	1	2	4	2			TCGA-J9-A8CP-01A-11D-A34U-08	TCGA-J9-A8CP-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6fc7ff0-f510-4b66-b422-4e9a5c0552d6	38604397-3014-4f48-9b92-dbdb45f28a33	g.chr2:196737041C>A	ENST00000312428.6	-	40	6666	c.6566G>T	c.(6565-6567)gGt>gTt	p.G2189V		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	2189	AAA 3. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)	axonemal dynein complex (GO:0005858)|cilium (GO:0005929)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|microtubule motor activity (GO:0003777)			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						CAAACAAACACCTTGAATGAC	0.383																																						ENST00000312428.6																			0				NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						c.(6565-6567)gGt>gTt		dynein, axonemal, heavy chain 7							148	135	139					2																	196737041		1852	4095	5947	SO:0001583	missense	56171				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr2:196737041C>A	AF327442	CCDS42794.1	2q33.1	2013-01-10	2006-09-04		ENSG00000118997	ENSG00000118997		"Axonemal dyneins", "EF-hand domain containing"	18661	protein-coding gene	gene with protein product		610061	"dynein, axonemal, heavy polypeptide 7"			9373155, 11877439	Standard	NM_018897		Approved	KIAA0944	uc002utj.4	Q8WXX0	OTTHUMG00000154438	ENST00000312428.6:c.6566G>T	2.37:g.196737041C>A	ENSP00000311273:p.Gly2189Val						p.G2189V	NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN			40	6666	-			2189			AAA 3 (By similarity).		B8ZZX8|O00433|O95492|Q4G152|Q53QX7|Q53S64|Q53T02|Q68CY5|Q8N1Z2|Q9UMS3|Q9Y2F3	Missense_Mutation	SNP	ENST00000312428.6	37	c.6566G>T	CCDS42794.1	.	.	.	.	.	.	.	.	.	.	C	23.7	4.451610	0.84209	.	.	ENSG00000118997	ENST00000312428	T	0.55930	0.49	4.53	4.53	0.55603	.	0.000000	0.85682	D	0.000000	D	0.83922	0.5359	H	0.98965	4.385	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.90890	0.4760	10	0.87932	D	0	.	17.4071	0.87476	0.0:1.0:0.0:0.0	.	2189	Q8WXX0	DYH7_HUMAN	V	2189	ENSP00000311273:G2189V	ENSP00000311273:G2189V	G	-	2	0	DNAH7	196445286	1.000000	0.71417	0.972000	0.41901	0.925000	0.55904	7.546000	0.82137	2.508000	0.84585	0.650000	0.86243	GGT		0.383	DNAH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335202.3	NM_018897		9	109	1	0	3.09899e-07	1	3.32574e-07	9	109					A	196737041	C	A	196737041	3	1	293	1	0	0	0	0	1	0	0	0	4606	507	18	5	5612	5	DNAH7	2	196737041	Missense_Mutation	SNP	C	TCGA-J9-A8CP-01A-11D-A34U-08	110431661	196737041	46462332	5	14127											
FAM194A	131831	broad.mit.edu	37	chr3	150404109	150404109	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	taacttagatgccagacattCaggttcagctttctctttag	10	15	7	9	0	3	2	2	0	1	2	4	2	3	2	1	1	3	2	1	1	3	7	rs112279628		TCGA-J9-A8CP-01A-11D-A34U-08	TCGA-J9-A8CP-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6fc7ff0-f510-4b66-b422-4e9a5c0552d6	38604397-3014-4f48-9b92-dbdb45f28a33	g.chr3:150404109C>G	ENST00000295910.6	-	4	638	c.586G>C	c.(586-588)Gaa>Caa	p.E196Q	FAM194A_ENST00000491361.1_Missense_Mutation_p.E50Q	NM_152394.3	NP_689607.2														NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						GCCAGACATTCAGGTTCAGCT	0.388																																						ENST00000295910.6																			0				NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						c.(586-588)Gaa>Caa		family with sequence similarity 194, member A							146	142	144					3																	150404109		2203	4300	6503	SO:0001583	missense	131831							g.chr3:150404109C>G																												ENST00000295910.6:c.586G>C	3.37:g.150404109C>G	ENSP00000295910:p.Glu196Gln					FAM194A_ENST00000491361.1_Missense_Mutation_p.E50Q	p.E196Q	NM_152394.3	NP_689607.2	Q7L0X2	F194A_HUMAN			4	638	-			196						Missense_Mutation	SNP	ENST00000295910.6	37	c.586G>C	CCDS3151.2	.	.	.	.	.	.	.	.	.	.	C	1.981	-0.434029	0.04669	.	.	ENSG00000163645	ENST00000295910;ENST00000491361;ENST00000313811	T;T	0.14893	2.67;2.47	3.41	-0.987	0.10249	.	1.447720	0.04675	N	0.411383	T	0.13200	0.0320	L	0.38531	1.155	0.09310	N	1	B	0.22346	0.068	B	0.20767	0.031	T	0.31308	-0.9948	10	0.30854	T	0.27	-5.703	5.1032	0.14770	0.0:0.4403:0.3155:0.2442	.	196	Q7L0X2	F194A_HUMAN	Q	196;50;154	ENSP00000295910:E196Q;ENSP00000419366:E50Q	ENSP00000295910:E196Q	E	-	1	0	FAM194A	151886799	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.478000	0.06575	-0.531000	0.06340	-2.734000	0.00129	GAA		0.388	FAM194A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257666.1			19	78	0	0	0	1	0	19	78					G	150404109	C	G	150404109	3	3	293	1	0	0	0	0	1	0	0	0	5526	835	29	5	1449	5	FAM194A	3	150404109	Missense_Mutation	SNP	C	TCGA-J9-A8CP-01A-11D-A34U-08		150404109	47618321	6	14128											
CLOCK	9575	broad.mit.edu	37	chr4	56304467	56304467	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acctgtaaaaattgttgcggTggctgggtcagctgagcctg	8	11	14	8	1	1	1	1	1	0	0	1	1	1	1	2	3	3	4	2	3	3	3			TCGA-J9-A8CP-01A-11D-A34U-08	TCGA-J9-A8CP-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6fc7ff0-f510-4b66-b422-4e9a5c0552d6	38604397-3014-4f48-9b92-dbdb45f28a33	g.chr4:56304467T>G	ENST00000309964.4	-	21	2593	c.2343A>C	c.(2341-2343)ccA>ccC	p.P781P	CLOCK_ENST00000381322.1_Silent_p.P781P|CLOCK_ENST00000513440.1_Silent_p.P781P	NM_004898.3	NP_004889.1	O15516	CLOCK_HUMAN	clock circadian regulator	781	Interaction with NR3C1. {ECO:0000250|UniProtKB:O08785}.				cellular response to ionizing radiation (GO:0071479)|chromatin organization (GO:0006325)|circadian regulation of gene expression (GO:0032922)|circadian rhythm (GO:0007623)|DNA damage checkpoint (GO:0000077)|histone acetylation (GO:0016573)|negative regulation of glucocorticoid receptor signaling pathway (GO:2000323)|negative regulation of transcription, DNA-templated (GO:0045892)|photoperiodism (GO:0009648)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|regulation of hair cycle (GO:0042634)|regulation of insulin secretion (GO:0050796)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|regulation of type B pancreatic cell development (GO:2000074)|response to redox state (GO:0051775)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|chromosome (GO:0005694)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|E-box binding (GO:0070888)|histone acetyltransferase activity (GO:0004402)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity (GO:0000982)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(8)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38	Lung NSC(11;0.00335)|Glioma(25;0.08)|all_epithelial(27;0.0992)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(4;1.62e-07)|Lung(4;1.34e-06)|Epithelial(7;0.0107)			ATTGTTGCGGTGGCTGGGTCA	0.468																																						ENST00000309964.4																			0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(8)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						c.(2341-2343)ccA>ccC		clock circadian regulator							57	56	56					4																	56304467		2203	4300	6503	SO:0001819	synonymous_variant	9575				circadian rhythm|photoperiodism|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|transcription factor complex	DNA binding|histone acetyltransferase activity|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr4:56304467T>G	AF011568	CCDS3500.1	4q12	2012-12-07	2012-12-07		ENSG00000134852	ENSG00000134852		"Chromatin-modifying enzymes / K-acetyltransferases", "Basic helix-loop-helix proteins"	2082	protein-coding gene	gene with protein product		601851	"clock (mouse) homolog", "clock homolog (mouse)"			10198158	Standard	NM_001267843		Approved	KIAA0334, KAT13D, bHLHe8	uc003hba.2	O15516	OTTHUMG00000102141	ENST00000309964.4:c.2343A>C	4.37:g.56304467T>G						CLOCK_ENST00000381322.1_Silent_p.P781P|CLOCK_ENST00000513440.1_Silent_p.P781P	p.P781P	NM_004898.3	NP_004889.1	O15516	CLOCK_HUMAN	LUSC - Lung squamous cell carcinoma(4;1.62e-07)|Lung(4;1.34e-06)|Epithelial(7;0.0107)		21	2593	-	Lung NSC(11;0.00335)|Glioma(25;0.08)|all_epithelial(27;0.0992)|all_neural(26;0.101)		781					A0AV01|A2I2N9|O14516|Q9UIT8	Silent	SNP	ENST00000309964.4	37	c.2343A>C	CCDS3500.1																																																																																				0.468	CLOCK-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361993.2	NM_004898		25	44	0	0	0	1	0	25	44					G	56304467	T	G	56304467	2	3	293	1	0	0	0	0	0	0	0	1	3549	1683	59	5		5	CLOCK	4	56304467	Silent	SNP	T	TCGA-J9-A8CP-01A-11D-A34U-08		56304467	134849809	7	14129											
DCHS2	54798	broad.mit.edu	37	chr4	155219735	155219735	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tattacagagctcctaggtgGatctcccaggtcagagcaca	11	9	10	11	0	2	2	1	0	1	2	4	3	3	3	2	3	3	2	2	3	3	3			TCGA-J9-A8CP-01A-11D-A34U-08	TCGA-J9-A8CP-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6fc7ff0-f510-4b66-b422-4e9a5c0552d6	38604397-3014-4f48-9b92-dbdb45f28a33	g.chr4:155219735G>T	ENST00000357232.4	-	18	4365	c.4366C>A	c.(4366-4368)Cca>Aca	p.P1456T		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	1456	Cadherin 12. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		CTCCTAGGTGGATCTCCCAGG	0.458																																						ENST00000357232.3																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176						c.(4366-4368)Cca>Aca		dachsous cadherin-related 2							118	125	122					4																	155219735		2203	4300	6503	SO:0001583	missense	54798				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:155219735G>T	BC140919	CCDS3785.1, CCDS47150.1	4q32.1	2014-06-04	2013-10-04	2004-09-03		ENSG00000197410		"Cadherins / Cadherin-related"	23111	protein-coding gene	gene with protein product	"cadherin-related family member 7"	612486	"cadherin-like 27", "dachsous 2 (Drosophila)"	CDH27, PCDH23		15003449	Standard	NM_017639		Approved	CDHJ, FLJ20047, PCDHJ, CDHR7	uc003inw.2	Q6V1P9		ENST00000357232.4:c.4366C>A	4.37:g.155219735G>T	ENSP00000349768:p.Pro1456Thr						p.P1456T	NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN		LUSC - Lung squamous cell carcinoma(193;0.107)	18	4365	-	all_hematologic(180;0.208)	Renal(120;0.0854)	1456			Cadherin 12.		B2RU14|E9PC11|Q4W5P9|Q6ZS61|Q9NXU8	Missense_Mutation	SNP	ENST00000357232.4	37	c.4366C>A	CCDS3785.1	.	.	.	.	.	.	.	.	.	.	G	7.772	0.707721	0.15239	.	.	ENSG00000197410	ENST00000357232	T	0.56275	0.47	5.76	5.76	0.90799	Cadherin (4);Cadherin-like (1);	0.000000	0.64402	D	0.000001	T	0.69655	0.3135	M	0.82630	2.6	0.80722	D	1	D	0.57899	0.981	P	0.58077	0.832	T	0.69465	-0.5138	10	0.38643	T	0.18	.	14.5093	0.67774	0.0701:0.0:0.9299:0.0	.	1456	Q6V1P9	PCD23_HUMAN	T	1456	ENSP00000349768:P1456T	ENSP00000349768:P1456T	P	-	1	0	DCHS2	155439185	1.000000	0.71417	0.352000	0.25734	0.089000	0.18198	3.612000	0.54142	2.880000	0.98712	0.650000	0.86243	CCA		0.458	DCHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365281.2	NM_001142552		49	97	1	0	6.68952e-21	1	7.95511e-21	49	97					T	155219735	G	T	155219735	3	4	293	1	0	0	0	0	1	0	0	0	4288	1174	41	5	4416	5	DCHS2	4	155219735	Missense_Mutation	SNP	G	TCGA-J9-A8CP-01A-11D-A34U-08	98915268	155219735	35934541	8	14130											
CDH10	1008	broad.mit.edu	37	chr5	24488218	24488219	+	Frame_Shift_Ins	INS	-	-	T																															tttgacaagatcagaggctcINStttttttcgctgtcttttca																										TCGA-J9-A8CP-01A-11D-A34U-08	TCGA-J9-A8CP-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6fc7ff0-f510-4b66-b422-4e9a5c0552d6	38604397-3014-4f48-9b92-dbdb45f28a33	g.chr5:24488218_24488219insT	ENST00000264463.4	-	12	2427_2428	c.1920_1921insA	c.(1918-1923)aaagagfs	p.E641fs	CDH10_ENST00000502921.1_5'UTR	NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	641					adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		ATCAGAGGCTCTTTTTTTCGCT	0.406										HNSCC(23;0.051)																												ENST00000264463.4																			0				NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185						c.(1918-1923)aaagccfs		cadherin 10, type 2 (T2-cadherin)																																				SO:0001589	frameshift_variant	1008				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:24488218_24488219insT	AF039747	CCDS3892.1	5p14.2	2010-01-26			ENSG00000040731	ENSG00000040731		"Cadherins / Major cadherins"	1749	protein-coding gene	gene with protein product		604555				2059658	Standard	NM_006727		Approved		uc003jgr.2	Q9Y6N8	OTTHUMG00000090667	ENST00000264463.4:c.1921dupA	5.37:g.24488225_24488225dupT	ENSP00000264463:p.Glu641fs	HNSCC(23;0.051)				CDH10_ENST00000502921.1_5'UTR	p.A641fs	NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN		STAD - Stomach adenocarcinoma(35;0.0556)	12	2427_2428	-			641					Q9ULB3	Frame_Shift_Ins	INS	ENST00000264463.4	37	c.1920_1921insA	CCDS3892.1																																																																																				0.406	CDH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207345.2	NM_006727		17	116						17	116	---	---	---	---	T	24488219	-	T	24488218	7	5	293	1	0	1	1	0	0	0	0	0	3096	922	32	0	449	0	CDH10	5	24488218	Frame_Shift_Ins	INS	-	TCGA-J9-A8CP-01A-11D-A34U-08		24488218	156427042	9	14131											
CDH10	1008	broad.mit.edu	37	chr5	24535310	24535310	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcctcccatctggccgcccAtgtctttggcctggatgacc	5	10	10	16	1	2	1	0	1	2	0	3	2	3	2	6	3	1	0	6	3	0	1			TCGA-J9-A8CP-01A-11D-A34U-08	TCGA-J9-A8CP-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6fc7ff0-f510-4b66-b422-4e9a5c0552d6	38604397-3014-4f48-9b92-dbdb45f28a33	g.chr5:24535310A>G	ENST00000264463.4	-	5	1232	c.725T>C	c.(724-726)aTg>aCg	p.M242T		NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	242	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		CTGGCCGCCCATGTCTTTGGC	0.478										HNSCC(23;0.051)																												ENST00000264463.4																			0				NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185						c.(724-726)aTg>aCg		cadherin 10, type 2 (T2-cadherin)							197	155	169					5																	24535310		2203	4300	6503	SO:0001583	missense	1008				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:24535310A>G	AF039747	CCDS3892.1	5p14.2	2010-01-26			ENSG00000040731	ENSG00000040731		"Cadherins / Major cadherins"	1749	protein-coding gene	gene with protein product		604555				2059658	Standard	NM_006727		Approved		uc003jgr.2	Q9Y6N8	OTTHUMG00000090667	ENST00000264463.4:c.725T>C	5.37:g.24535310A>G	ENSP00000264463:p.Met242Thr	HNSCC(23;0.051)					p.M242T	NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN		STAD - Stomach adenocarcinoma(35;0.0556)	5	1232	-			242			Cadherin 2.		Q9ULB3	Missense_Mutation	SNP	ENST00000264463.4	37	c.725T>C	CCDS3892.1	.	.	.	.	.	.	.	.	.	.	A	22.5	4.297157	0.81025	.	.	ENSG00000040731	ENST00000264463	T	0.50277	0.75	5.6	5.6	0.85130	Cadherin (5);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.66906	0.2837	M	0.67700	2.07	0.54753	D	0.99998	D	0.76494	0.999	D	0.77557	0.99	T	0.70178	-0.4943	10	0.72032	D	0.01	.	14.9537	0.71094	1.0:0.0:0.0:0.0	.	242	Q9Y6N8	CAD10_HUMAN	T	242	ENSP00000264463:M242T	ENSP00000264463:M242T	M	-	2	0	CDH10	24571067	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.339000	0.96797	2.131000	0.65755	0.482000	0.46254	ATG		0.478	CDH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207345.2	NM_006727		23	58	0	0	0	1	0	23	58					G	24535310	A	G	24535310	3	3	293	1	0	0	0	0	1	0	0	0	3096	217	8	4	1673	4	CDH10	5	24535310	Missense_Mutation	SNP	A	TCGA-J9-A8CP-01A-11D-A34U-08	47092	24535310	156379950	10	14132											
NIPBL	25836	broad.mit.edu	37	chr5	36976330	36976330	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcctgttttacaacagaacActtcagttgctgcaaaacaa	14	11	6	10	0	1	1	1	0	0	1	1	1	1	1	1	0	7	4	1	0	6	4	rs144853101	byFrequency	TCGA-J9-A8CP-01A-11D-A34U-08	TCGA-J9-A8CP-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6fc7ff0-f510-4b66-b422-4e9a5c0552d6	38604397-3014-4f48-9b92-dbdb45f28a33	g.chr5:36976330A>C	ENST00000282516.8	+	9	1820	c.1321A>C	c.(1321-1323)Act>Cct	p.T441P	NIPBL_ENST00000504430.1_3'UTR|NIPBL_ENST00000448238.2_Missense_Mutation_p.T441P	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	441	Gln-rich.				brain development (GO:0007420)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to X-ray (GO:0071481)|cognition (GO:0050890)|developmental growth (GO:0048589)|ear morphogenesis (GO:0042471)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic forelimb morphogenesis (GO:0035115)|embryonic viscerocranium morphogenesis (GO:0048703)|external genitalia morphogenesis (GO:0035261)|eye morphogenesis (GO:0048592)|face morphogenesis (GO:0060325)|fat cell differentiation (GO:0045444)|forelimb morphogenesis (GO:0035136)|gall bladder development (GO:0061010)|heart morphogenesis (GO:0003007)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|metanephros development (GO:0001656)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid cohesion (GO:0007064)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract morphogenesis (GO:0003151)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of ossification (GO:0045778)|regulation of developmental growth (GO:0048638)|regulation of embryonic development (GO:0045995)|regulation of hair cycle (GO:0042634)|sensory perception of sound (GO:0007605)|stem cell maintenance (GO:0019827)|uterus morphogenesis (GO:0061038)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMC loading complex (GO:0032116)	chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|histone deacetylase binding (GO:0042826)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			ACAACAGAACACTTCAGTTGC	0.413																																						ENST00000282516.8																			0				autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128						c.(1321-1323)Act>Cct		Nipped-B homolog (Drosophila)							82	83	82					5																	36976330		2203	4300	6503	SO:0001583	missense	25836				brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding	g.chr5:36976330A>C	AB019494	CCDS3920.1, CCDS47198.1	5p13.2	2009-08-28			ENSG00000164190	ENSG00000164190			28862	protein-coding gene	gene with protein product	"sister chromatid cohesion 2 homolog (yeast)"	608667				15146186, 15146185	Standard	NM_133433		Approved	IDN3, DKFZp434L1319, FLJ11203, FLJ12597, FLJ13354, FLJ13648, Scc2	uc003jkl.4	Q6KC79	OTTHUMG00000090795	ENST00000282516.8:c.1321A>C	5.37:g.36976330A>C	ENSP00000282516:p.Thr441Pro					NIPBL_ENST00000448238.2_Missense_Mutation_p.T441P|NIPBL_ENST00000504430.1_3'UTR	p.T441P	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)		9	1820	+	all_lung(31;0.000447)|Hepatocellular(1;0.108)		441			Gln-rich.		Q6KCD6|Q6N080|Q6ZT92|Q7Z2E6|Q8N4M5|Q9Y6Y3|Q9Y6Y4	Missense_Mutation	SNP	ENST00000282516.8	37	c.1321A>C	CCDS3920.1	.	.	.	.	.	.	.	.	.	.	A	14.62	2.590155	0.46214	.	.	ENSG00000164190	ENST00000282516;ENST00000448238	D;D	0.93604	-3.25;-3.25	5.58	5.58	0.84498	.	0.118449	0.64402	D	0.000014	D	0.88680	0.6502	N	0.19112	0.55	0.33025	D	0.529433	P;P	0.45827	0.79;0.867	B;B	0.41813	0.202;0.367	D	0.91968	0.5584	10	0.51188	T	0.08	.	15.7445	0.77929	1.0:0.0:0.0:0.0	.	441;441	Q6KC79;Q6KC79-2	NIPBL_HUMAN;.	P	441	ENSP00000282516:T441P;ENSP00000406266:T441P	ENSP00000282516:T441P	T	+	1	0	NIPBL	37012087	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.294000	0.43567	2.133000	0.65898	0.377000	0.23210	ACT		0.413	NIPBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207582.1	NM_015384		27	59	0	0	0	1	0	27	59					C	36976330	A	C	36976330	3	2	293	1	0	0	0	0	1	0	0	0	10428	159	6	5	1351	5	NIPBL	5	36976330	Missense_Mutation	SNP	A	TCGA-J9-A8CP-01A-11D-A34U-08	12441020	36976330	143938930	11	14133											
C6	729	broad.mit.edu	37	chr5	41161838	41161838	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tttccttcactgattctaacCactcagaaaatgtcttctcc	10	15	3	13	0	5	2	2	1	3	1	7	2	6	2	3	0	1	0	3	0	3	5			TCGA-J9-A8CP-01A-11D-A34U-08	TCGA-J9-A8CP-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6fc7ff0-f510-4b66-b422-4e9a5c0552d6	38604397-3014-4f48-9b92-dbdb45f28a33	g.chr5:41161838C>A	ENST00000263413.3	-	10	1679	c.1415G>T	c.(1414-1416)tGg>tTg	p.W472L	C6_ENST00000475349.1_5'UTR|C6_ENST00000337836.5_Missense_Mutation_p.W472L	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	472	MACPF. {ECO:0000255|PROSITE- ProRule:PRU00745}.				complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane attack complex (GO:0005579)				central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				TGATTCTAACCACTCAGAAAA	0.428																																						ENST00000263413.3																			0				central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96						c.(1414-1416)tGg>tTg		complement component 6							143	141	142					5																	41161838		2203	4300	6503	SO:0001583	missense	729				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding	g.chr5:41161838C>A	J05024	CCDS3936.1	5p13.1	2014-09-17			ENSG00000039537	ENSG00000039537		"Complement system"	1339	protein-coding gene	gene with protein product		217050					Standard	NM_001115131		Approved		uc003jmk.3	P13671	OTTHUMG00000094781	ENST00000263413.3:c.1415G>T	5.37:g.41161838C>A	ENSP00000263413:p.Trp472Leu					C6_ENST00000475349.1_5'UTR|C6_ENST00000337836.5_Missense_Mutation_p.W472L	p.W472L	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN			10	1679	-		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)	472			MACPF.			Missense_Mutation	SNP	ENST00000263413.3	37	c.1415G>T	CCDS3936.1	.	.	.	.	.	.	.	.	.	.	C	29.4	5.000211	0.93227	.	.	ENSG00000039537	ENST00000337836;ENST00000263413	D;D	0.97114	-4.25;-4.25	5.35	5.35	0.76521	Membrane attack complex component/perforin (MACPF) domain (3);	0.000000	0.85682	D	0.000000	D	0.98826	0.9604	M	0.91972	3.26	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.99297	1.0900	10	0.87932	D	0	-17.798	19.6142	0.95626	0.0:1.0:0.0:0.0	.	472	P13671	CO6_HUMAN	L	472	ENSP00000338861:W472L;ENSP00000263413:W472L	ENSP00000263413:W472L	W	-	2	0	C6	41197595	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	6.828000	0.75308	2.941000	0.99782	0.655000	0.94253	TGG		0.428	C6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211592.1			5	111	1	0	1.024e-07	1	1.1264e-07	5	111					A	41161838	C	A	41161838	3	1	293	1	0	0	0	0	1	0	0	0	2315	595	21	5	1425	5	C6	5	41161838	Missense_Mutation	SNP	C	TCGA-J9-A8CP-01A-11D-A34U-08	4185508	41161838	139753422	12	14134											
ANKRD55	79722	broad.mit.edu	37	chr5	55407577	55407577	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccttcttctggggccgactgCtctgggagggagggggtcga	4	9	18	10	2	3	0	0	0	3	0	4	4	3	2	2	6	1	1	2	6	0	2			TCGA-J9-A8CP-01A-11D-A34U-08	TCGA-J9-A8CP-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6fc7ff0-f510-4b66-b422-4e9a5c0552d6	38604397-3014-4f48-9b92-dbdb45f28a33	g.chr5:55407577C>T	ENST00000341048.4	-	10	1149	c.998G>A	c.(997-999)aGc>aAc	p.S333N	ANKRD55_ENST00000505970.2_5'UTR|ANKRD55_ENST00000434982.2_Missense_Mutation_p.S45N|ANKRD55_ENST00000504958.2_Missense_Mutation_p.S290N	NM_024669.2	NP_078945.2	Q3KP44	ANR55_HUMAN	ankyrin repeat domain 55	333										breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(1)	34		Lung NSC(810;8.69e-05)|Prostate(74;0.00634)|Breast(144;0.0334)|Ovarian(174;0.223)				GGGCCGACTGCTCTGGGAGGG	0.488																																						ENST00000341048.4																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(1)	34						c.(997-999)aGc>aAc		ankyrin repeat domain 55							107	106	106					5																	55407577		2203	4300	6503	SO:0001583	missense	79722							g.chr5:55407577C>T	AK021857	CCDS34161.1	5q11.2	2013-01-10			ENSG00000164512	ENSG00000164512		"Ankyrin repeat domain containing"	25681	protein-coding gene	gene with protein product		615189					Standard	XM_005248599		Approved	FLJ11795	uc003jqu.3	Q3KP44	OTTHUMG00000162305	ENST00000341048.4:c.998G>A	5.37:g.55407577C>T	ENSP00000342295:p.Ser333Asn					ANKRD55_ENST00000434982.2_Missense_Mutation_p.S45N|ANKRD55_ENST00000505970.2_5'UTR|ANKRD55_ENST00000504958.2_Missense_Mutation_p.S290N	p.S333N	NM_024669.2	NP_078945.2	Q3KP44	ANR55_HUMAN			10	1149	-		Lung NSC(810;8.69e-05)|Prostate(74;0.00634)|Breast(144;0.0334)|Ovarian(174;0.223)	332					B3KVT8|Q3KP45|Q9HAD3	Missense_Mutation	SNP	ENST00000341048.4	37	c.998G>A	CCDS34161.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	0.781|0.781	-0.762368|-0.762368	0.02996|0.02996	.|.	.|.	ENSG00000164512|ENSG00000164512	ENST00000505970|ENST00000507283;ENST00000341048;ENST00000504958;ENST00000434982	.|T;T;T	.|0.35605	.|1.48;1.3;1.88	5.49|5.49	0.374|0.374	0.16183|0.16183	.|Ankyrin repeat-containing domain (1);	.|0.328981	.|0.30639	.|N	.|0.009181	T|T	0.11196|0.11196	0.0273|0.0273	N|N	0.02247|0.02247	-0.625|-0.625	0.09310|0.09310	N|N	1|1	.|B;B	.|0.02656	.|0.0;0.0	.|B;B	.|0.01281	.|0.0;0.0	T|T	0.35847|0.35847	-0.9772|-0.9772	6|10	0.16896|0.05959	T|T	0.51|0.93	.|.	9.3217|9.3217	0.37968|0.37968	0.0:0.3615:0.0:0.6385|0.0:0.3615:0.0:0.6385	.|.	.|333;332	.|B3KVT8;Q3KP44	.|.;ANR55_HUMAN	T|N	78|333;333;290;45	.|ENSP00000342295:S333N;ENSP00000424230:S290N;ENSP00000429421:S45N	ENSP00000422370:A78T|ENSP00000342295:S333N	A|S	-|-	1|2	0|0	ANKRD55|ANKRD55	55443334|55443334	0.972000|0.972000	0.33761|0.33761	0.002000|0.002000	0.10522|0.10522	0.874000|0.874000	0.50279|0.50279	1.077000|1.077000	0.30741|0.30741	-0.082000|-0.082000	0.12640|0.12640	-0.312000|-0.312000	0.09012|0.09012	GCA|AGC		0.488	ANKRD55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368510.4	NM_024669		11	207	0	0	0	1	0	11	207					T	55407577	C	T	55407577	3	4	293	1	0	0	0	0	1	0	0	0	681	797	28	3	858	3	ANKRD55	5	55407577	Missense_Mutation	SNP	C	TCGA-J9-A8CP-01A-11D-A34U-08	14245739	55407577	125507683	13	14135											
POU5F2	134187	broad.mit.edu	37	chr5	93077212	93077212	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gggcatcggccctctggggcCgcccccaccactgcctggaa	5	5	13	18	2	1	0	0	0	1	0	2	1	1	1	6	5	1	1	6	5	1	0	rs575553090		TCGA-J9-A8CP-01A-11D-A34U-08	TCGA-J9-A8CP-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6fc7ff0-f510-4b66-b422-4e9a5c0552d6	38604397-3014-4f48-9b92-dbdb45f28a33	g.chr5:93077212C>T	ENST00000510627.4	-	1	131	c.58G>A	c.(58-60)Ggc>Agc	p.G20S	FAM172A_ENST00000509739.1_Intron|FAM172A_ENST00000395965.3_Intron|RP11-185E12.2_ENST00000606528.1_RNA|FAM172A_ENST00000505869.1_Intron|POU5F2_ENST00000606183.1_5'Flank|FAM172A_ENST00000509163.1_Intron	NM_153216.1	NP_694948.1	Q8N7G0	PO5F2_HUMAN	POU domain class 5, transcription factor 2	20					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)						all_cancers(142;3.87e-05)|all_epithelial(76;4.59e-07)|all_lung(232;0.0126)|Lung NSC(167;0.0155)|Ovarian(174;0.0218)|Prostate(281;0.173)|Colorectal(57;0.19)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0415)|all cancers(79;2.03e-19)		CCTCTGGGGCCGCCCCCACCA	0.687													C|||	1	0.000199681	0	0.0014	5008	,	,		14667	0		0	False		,,,				2504	0					ENST00000510627.4																			0											c.(58-60)Ggc>Agc		POU domain class 5, transcription factor 2							12	16	15					5																	93077212		1889	4101	5990	SO:0001583	missense	134187					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr5:93077212C>T		CCDS59489.1	5q15	2011-06-20				ENSG00000248483		"Homeoboxes / POU class"	26367	protein-coding gene	gene with protein product						7908264	Standard	NM_153216		Approved	SPRM-1, FLJ25680	uc003kkl.1	Q8N7G0		ENST00000510627.4:c.58G>A	5.37:g.93077212C>T	ENSP00000464890:p.Gly20Ser					FAM172A_ENST00000509739.1_Intron|FAM172A_ENST00000395965.3_Intron|FAM172A_ENST00000509163.1_Intron|FAM172A_ENST00000505869.1_Intron	p.G20S	NM_153216.1	NP_694948.1	Q8N7G0	PO5F2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (5;0.0415)|all cancers(79;2.03e-19)	1	131	-		all_cancers(142;3.87e-05)|all_epithelial(76;4.59e-07)|all_lung(232;0.0126)|Lung NSC(167;0.0155)|Ovarian(174;0.0218)|Prostate(281;0.173)|Colorectal(57;0.19)	20					Q15169|Q6MZL7|Q8N748	Missense_Mutation	SNP	ENST00000510627.4	37	c.58G>A	CCDS59489.1																																																																																				0.687	POU5F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369873.5	NM_153216		14	9	0	0	0	1	0	14	9					T	93077212	C	T	93077212	3	4	293	1	0	0	0	0	1	0	0	0	12283	652	23	2	932	2	POU5F2	5	93077212	Missense_Mutation	SNP	C	TCGA-J9-A8CP-01A-11D-A34U-08	37669635	93077212	87838048	14	14136											
RPP21	79897	broad.mit.edu	37	chr6	30314252	30314252	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gtacagacctgcctaacatgCcagcgcagccaacgcttcct	10	7	8	16	2	0	1	0	0	0	1	1	1	1	1	5	0	7	3	5	0	3	3			TCGA-J9-A8CP-01A-11D-A34U-08	TCGA-J9-A8CP-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6fc7ff0-f510-4b66-b422-4e9a5c0552d6	38604397-3014-4f48-9b92-dbdb45f28a33	g.chr6:30314252C>T	ENST00000442966.2	+	4	298	c.285C>T	c.(283-285)tgC>tgT	p.C95C	RPP21_ENST00000466327.1_3'UTR|RPP21_ENST00000433076.2_Silent_p.C103C|RPP21_ENST00000428040.2_Silent_p.C118C|TRIM39-RPP21_ENST00000513556.1_Silent_p.C356C|RPP21_ENST00000436442.2_Silent_p.C95C			Q9H633	RPP21_HUMAN	ribonuclease P/MRP 21kDa subunit	95					response to drug (GO:0042493)|tRNA processing (GO:0008033)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|ribonuclease P activity (GO:0004526)			endometrium(2)|ovary(1)|prostate(1)	4						GCCTAACATGCCAGCGCAGCC	0.582																																						ENST00000513556.1																			0											c.(1066-1068)tgC>tgT									76	72	74					6																	30314252		2203	4300	6503	SO:0001819	synonymous_variant	0					intracellular	zinc ion binding	g.chr6:30314252C>T	AK026291	CCDS4679.1, CCDS56409.1, CCDS56410.1	6p21.32	2012-05-21	2007-06-26	2004-03-19	ENSG00000241370	ENSG00000241370			21300	protein-coding gene	gene with protein product		612524	"chromosome 6 open reading frame 135", "ribonuclease P 21kDa subunit"	C6orf135			Standard	NM_001199120		Approved	FLJ22638, Em:AB014085.3		Q9H633	OTTHUMG00000031220	ENST00000442966.2:c.285C>T	6.37:g.30314252C>T						RPP21_ENST00000466327.1_3'UTR|RPP21_ENST00000428040.2_Silent_p.C118C|RPP21_ENST00000442966.2_Silent_p.C95C|RPP21_ENST00000436442.2_Silent_p.C95C|RPP21_ENST00000433076.2_Silent_p.C103C	p.C356C	NM_001199119.1	NP_001186048.1	A6ZJ12	A6ZJ12_HUMAN			9	1068	+			356					A2AAZ8|B0S834|B0S835|Q5JPL9|Q5JPM1|Q5STF8|Q5STF9|Q5STG2|Q5SU41|Q5SU42|Q86Y49|Q86Y50|Q86Y51|Q96F16	Silent	SNP	ENST00000442966.2	37	c.1068C>T	CCDS4679.1																																																																																				0.582	RPP21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076451.2	NM_024839		3	51	0	0	0	1	0	3	51					T	30314252	C	T	30314252	2	4	293	1	0	0	0	0	0	0	0	1	13610	747	26	3		3	RPP21	6	30314252	Silent	SNP	C	TCGA-J9-A8CP-01A-11D-A34U-08		30314252	140800815	15	14137											
SDK1	221935	broad.mit.edu	37	chr7	4006973	4006973	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcgctccagtgttcacccagCggccagtggacaccacagtt	8	8	10	15	2	1	0	1	0	0	0	3	1	2	1	4	2	1	3	4	2	0	2	rs35393929		TCGA-J9-A8CP-01A-11D-A34U-08	TCGA-J9-A8CP-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6fc7ff0-f510-4b66-b422-4e9a5c0552d6	38604397-3014-4f48-9b92-dbdb45f28a33	g.chr7:4006973C>T	ENST00000404826.2	+	10	1592	c.1453C>T	c.(1453-1455)Cgg>Tgg	p.R485W	SDK1_ENST00000389531.3_Missense_Mutation_p.R485W	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	485	Ig-like C2-type 5.				cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		GTTCACCCAGCGGCCAGTGGA	0.547																																						ENST00000404826.2																			0				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153						c.(1453-1455)Cgg>Tgg		sidekick cell adhesion molecule 1		C	TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	100	99	100		1453	4.8	0.1	7	dbSNP_126	100	0,8600		0,0,4300	no	missense	SDK1	NM_152744.3	101	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	485/2214	4006973	1,13005	2203	4300	6503	SO:0001583	missense	221935				cell adhesion	integral to membrane		g.chr7:4006973C>T	AK074077	CCDS34590.1	7p22.3	2013-02-11	2011-12-09		ENSG00000146555	ENSG00000146555		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	19307	protein-coding gene	gene with protein product		607216	"sidekick homolog 1 (chicken)", "sidekick homolog 1, cell adhesion molecule (chicken)"			12230981, 17307840, 15213259	Standard	NM_001079653		Approved	FLJ31425	uc003smx.3	Q7Z5N4	OTTHUMG00000151733	ENST00000404826.2:c.1453C>T	7.37:g.4006973C>T	ENSP00000385899:p.Arg485Trp					SDK1_ENST00000389531.3_Missense_Mutation_p.R485W	p.R485W	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)	10	1592	+		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)	485			Ig-like C2-type 5.		Q8TEN9|Q8TEP5|Q96N44	Missense_Mutation	SNP	ENST00000404826.2	37	c.1453C>T	CCDS34590.1	.	.	.	.	.	.	.	.	.	.	C	12.62	1.992071	0.35131	2.27E-4	0.0	ENSG00000146555	ENST00000404826;ENST00000389531	T;T	0.68025	-0.3;-0.3	5.65	4.77	0.60923	Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.269718	0.30093	N	0.010429	T	0.72645	0.3486	M	0.69523	2.12	0.09310	N	1	D	0.71674	0.998	P	0.53185	0.72	T	0.67288	-0.5708	10	0.66056	D	0.02	.	9.9783	0.41797	0.0:0.7898:0.1381:0.0721	rs35393929	485	Q7Z5N4	SDK1_HUMAN	W	485	ENSP00000385899:R485W;ENSP00000374182:R485W	ENSP00000374182:R485W	R	+	1	2	SDK1	3973499	0.152000	0.22762	0.121000	0.21740	0.337000	0.28794	1.458000	0.35223	1.390000	0.46547	0.655000	0.94253	CGG		0.547	SDK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323702.1	NM_152744		6	94	0	0	0	1	0	6	94					T	4006973	C	T	4006973	3	4	293	1	0	0	0	0	1	0	0	0	13968	759	27	1	1491	1	SDK1	7	4006973	Missense_Mutation	SNP	C	TCGA-J9-A8CP-01A-11D-A34U-08		4006973	155131690	16	14138											
PPP1R3A	5506	broad.mit.edu	37	chr7	113519322	113519322	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	accagttatccctcctaaagCgctgccttcactagtcaaat	11	11	5	14	1	2	0	2	0	0	0	4	0	4	0	4	0	2	2	4	0	5	4	rs144397367		TCGA-J9-A8CP-01A-11D-A34U-08	TCGA-J9-A8CP-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6fc7ff0-f510-4b66-b422-4e9a5c0552d6	38604397-3014-4f48-9b92-dbdb45f28a33	g.chr7:113519322C>T	ENST00000284601.3	-	4	1893	c.1825G>A	c.(1825-1827)Gct>Act	p.A609T		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	609					glycogen metabolic process (GO:0005977)	integral component of membrane (GO:0016021)				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						CCTCCTAAAGCGCTGCCTTCA	0.403																																						ENST00000284601.3																			0				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						c.(1825-1827)Gct>Act		protein phosphatase 1, regulatory subunit 3A		C	THR/ALA	0,4406		0,0,2203	115	111	112		1825	-12	0	7	dbSNP_134	112	1,8599	1.2+/-3.3	0,1,4299	no	missense	PPP1R3A	NM_002711.3	58	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	609/1123	113519322	1,13005	2203	4300	6503	SO:0001583	missense	5506				glycogen metabolic process	integral to membrane		g.chr7:113519322C>T	AF024578	CCDS5759.1	7q31.1	2012-04-17	2011-10-04	2001-07-02	ENSG00000154415	ENSG00000154415	3.1.3.16	"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	9291	protein-coding gene	gene with protein product	"glycogen-associated regulatory subunit of protein phosphatase-1", "protein phosphatase 1 regulatory subunit GM"	600917	"protein phosphatase 1, regulatory (inhibitor) subunit 3A (glycogen and sarcoplasmic reticulum binding subunit, skeletal muscle)", "protein phosphatase 1, regulatory (inhibitor) subunit 3A"	PPP1R3		7926294	Standard	NM_002711		Approved	GM	uc010ljy.1	Q16821	OTTHUMG00000156944	ENST00000284601.3:c.1825G>A	7.37:g.113519322C>T	ENSP00000284601:p.Ala609Thr						p.A609T	NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN			4	1893	-			609					A0AVQ2|A4D0T6|O43476|Q75LN8|Q7KYM8|Q86UI6	Missense_Mutation	SNP	ENST00000284601.3	37	c.1825G>A	CCDS5759.1	.	.	.	.	.	.	.	.	.	.	C	0.059	-1.228281	0.01518	0.0	1.16E-4	ENSG00000154415	ENST00000284601	T	0.14266	2.52	6.02	-12.0	0.00017	.	2.198090	0.01457	N	0.015715	T	0.06462	0.0166	N	0.20685	0.6	0.09310	N	1	B	0.14012	0.009	B	0.04013	0.001	T	0.18903	-1.0322	10	0.10111	T	0.7	-0.5299	8.0274	0.30444	0.0614:0.3295:0.3891:0.22	.	609	Q16821	PPR3A_HUMAN	T	609	ENSP00000284601:A609T	ENSP00000284601:A609T	A	-	1	0	PPP1R3A	113306558	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-3.556000	0.00432	-4.519000	0.00044	-1.913000	0.00520	GCT		0.403	PPP1R3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346724.1	NM_002711		15	131	0	0	0	1	0	15	131					T	113519322	C	T	113519322	3	4	293	1	0	0	0	0	1	0	0	0	12371	768	27	1	1547	1	PPP1R3A	7	113519322	Missense_Mutation	SNP	C	TCGA-J9-A8CP-01A-11D-A34U-08	109512349	113519322	45619341	17	14139											
DNAI1	27019	broad.mit.edu	37	chr9	34517406	34517406	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	accccatcatcattgtgggcGatgaccgtgggcacatcatc	9	9	10	13	2	3	1	3	1	0	0	4	2	3	1	3	2	0	1	3	2	0	1			TCGA-J9-A8CP-01A-11D-A34U-08	TCGA-J9-A8CP-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6fc7ff0-f510-4b66-b422-4e9a5c0552d6	38604397-3014-4f48-9b92-dbdb45f28a33	g.chr9:34517406G>A	ENST00000242317.4	+	19	2113	c.1942G>A	c.(1942-1944)Gat>Aat	p.D648N		NM_001281428.1|NM_012144.2	NP_001268357.1|NP_036276.1	Q9UI46	DNAI1_HUMAN	dynein, axonemal, intermediate chain 1	648					cell projection organization (GO:0030030)|epithelial cilium movement (GO:0003351)|metabolic process (GO:0008152)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	motor activity (GO:0003774)			autonomic_ganglia(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(13)|prostate(1)|skin(2)|urinary_tract(1)	34	all_epithelial(49;0.244)		LUSC - Lung squamous cell carcinoma(29;0.0107)|STAD - Stomach adenocarcinoma(86;0.212)	GBM - Glioblastoma multiforme(74;0.0222)		CATTGTGGGCGATGACCGTGG	0.532									Kartagener syndrome																													ENST00000242317.4																			0				autonomic_ganglia(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(13)|prostate(1)|skin(2)|urinary_tract(1)	34						c.(1942-1944)Gat>Aat		dynein, axonemal, intermediate chain 1							156	119	132					9																	34517406		2203	4300	6503	SO:0001583	missense	27019	Kartagener syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	cell projection organization	cilium axoneme|cytoplasm|dynein complex|microtubule	motor activity	g.chr9:34517406G>A	AF091619	CCDS6557.1, CCDS75829.1	9p13.3	2013-02-19	2006-09-04		ENSG00000122735	ENSG00000122735		"Axonemal dyneins", "WD repeat domain containing"	2954	protein-coding gene	gene with protein product		604366	"dynein, axonemal, intermediate polypeptide 1"			10577904, 21953912	Standard	NM_012144		Approved	DIC1, PCD, CILD1	uc003zum.3	Q9UI46	OTTHUMG00000019825	ENST00000242317.4:c.1942G>A	9.37:g.34517406G>A	ENSP00000242317:p.Asp648Asn						p.D648N	NM_012144.2	NP_036276.1	Q9UI46	DNAI1_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0107)|STAD - Stomach adenocarcinoma(86;0.212)	GBM - Glioblastoma multiforme(74;0.0222)	19	2113	+	all_epithelial(49;0.244)		648					B7Z7U1|Q5T8G7|Q8NHQ7|Q9UEZ8	Missense_Mutation	SNP	ENST00000242317.4	37	c.1942G>A	CCDS6557.1	.	.	.	.	.	.	.	.	.	.	G	36	5.836629	0.97009	.	.	ENSG00000122735	ENST00000242317	T	0.71103	-0.54	5.62	5.62	0.85841	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.82715	0.5097	M	0.74467	2.265	0.80722	D	1	D	0.76494	0.999	D	0.63793	0.918	D	0.84401	0.0560	10	0.72032	D	0.01	.	16.3744	0.83381	0.0:0.0:1.0:0.0	.	648	Q9UI46	DNAI1_HUMAN	N	648	ENSP00000242317:D648N	ENSP00000242317:D648N	D	+	1	0	DNAI1	34507406	1.000000	0.71417	0.987000	0.45799	0.995000	0.86356	9.168000	0.94781	2.651000	0.90000	0.561000	0.74099	GAT		0.532	DNAI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052192.1			24	42	0	0	0	1	0	24	42					A	34517406	G	A	34517406	3	1	293	1	0	0	0	0	1	0	0	0	4609	1058	37	2	2016	2	DNAI1	9	34517406	Missense_Mutation	SNP	G	TCGA-J9-A8CP-01A-11D-A34U-08		34517406	106696025	18	14140											
SUPV3L1	6832	broad.mit.edu	37	chr10	70940179	70940179	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gttctggggcaagtttctgtCcttgccaccgcctcctcctc	3	13	9	16	1	2	0	0	0	2	0	6	0	5	0	6	2	1	3	6	2	1	3			TCGA-J9-A8CP-01A-11D-A34U-08	TCGA-J9-A8CP-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6fc7ff0-f510-4b66-b422-4e9a5c0552d6	38604397-3014-4f48-9b92-dbdb45f28a33	g.chr10:70940179C>T	ENST00000359655.4	+	1	192	c.132C>T	c.(130-132)gtC>gtT	p.V44V	SUPV3L1_ENST00000483572.1_3'UTR	NM_003171.3	NP_003162.2	Q8IYB8	SUV3_HUMAN	suppressor of var1, 3-like 1 (S. cerevisiae)	44					ATP catabolic process (GO:0006200)|chromatin maintenance (GO:0070827)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|mitochondrial mRNA catabolic process (GO:0000958)|mitochondrial mRNA surveillance (GO:0035946)|mitochondrial ncRNA surveillance (GO:0035945)|mitochondrial RNA 3'-end processing (GO:0000965)|mitochondrial RNA surveillance (GO:2000827)|mitochondrion morphogenesis (GO:0070584)|negative regulation of apoptotic process (GO:0043066)|positive regulation of cell growth (GO:0030307)|positive regulation of mitochondrial RNA catabolic process (GO:0000962)|RNA catabolic process (GO:0006401)	mitochondrial degradosome (GO:0045025)|mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	3'-5' RNA helicase activity (GO:0034458)|ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|RNA binding (GO:0003723)			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						AAGTTTCTGTCCTTGCCACCG	0.667																																						ENST00000359655.4																			0				NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						c.(130-132)gtC>gtT		suppressor of var1, 3-like 1 (S. cerevisiae)							54	60	58					10																	70940179		2203	4300	6503	SO:0001819	synonymous_variant	6832				DNA duplex unwinding	mitochondrial nucleoid|nucleus	ATP binding|DNA binding|DNA helicase activity|RNA binding	g.chr10:70940179C>T	AF042169	CCDS7287.1	10q22.1	2008-08-01	2001-11-28		ENSG00000156502	ENSG00000156502			11471	protein-coding gene	gene with protein product		605122	"suppressor of var1 (S.cerevisiae) 3-like 1"			9925937, 16176273	Standard	XM_005270068		Approved	SUV3	uc001jpe.1	Q8IYB8	OTTHUMG00000018375	ENST00000359655.4:c.132C>T	10.37:g.70940179C>T						SUPV3L1_ENST00000483572.1_3'UTR	p.V44V	NM_003171.3	NP_003162.2	Q8IYB8	SUV3_HUMAN			1	192	+			44					A8K301|O43630	Silent	SNP	ENST00000359655.4	37	c.132C>T	CCDS7287.1																																																																																				0.667	SUPV3L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048396.2	NM_003171		28	77	0	0	0	1	0	28	77					T	70940179	C	T	70940179	2	4	293	1	0	0	0	0	0	0	0	1	15399	842	30	3		3	SUPV3L1	10	70940179	Silent	SNP	C	TCGA-J9-A8CP-01A-11D-A34U-08		70940179	64594568	19	14141											
KCNK18	338567	broad.mit.edu	37	chr10	118969534	118969534	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcccttattgtttttgcctaCatttcctgtgcagctgccat	5	17	7	12	0	0	0	0	0	0	0	1	0	1	0	4	0	5	3	4	0	2	6			TCGA-J9-A8CP-01A-11D-A34U-08	TCGA-J9-A8CP-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6fc7ff0-f510-4b66-b422-4e9a5c0552d6	38604397-3014-4f48-9b92-dbdb45f28a33	g.chr10:118969534C>A	ENST00000334549.1	+	3	879	c.879C>A	c.(877-879)taC>taA	p.Y293*		NM_181840.1	NP_862823.1	Q7Z418	KCNKI_HUMAN	potassium channel, subfamily K, member 18	293					cellular response to pH (GO:0071467)|potassium ion export (GO:0071435)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium-activated potassium channel activity (GO:0015269)|outward rectifier potassium channel activity (GO:0015271)|potassium channel activity (GO:0005267)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	41		Colorectal(252;0.19)		all cancers(201;0.0211)		TTTTTGCCTACATTTCCTGTG	0.498																																						ENST00000334549.1																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	41						c.(877-879)taC>taA		potassium channel, subfamily K, member 18							249	211	224					10																	118969534		2203	4300	6503	SO:0001587	stop_gained	338567					integral to membrane|plasma membrane		g.chr10:118969534C>A	AB087138	CCDS7598.1	10q26.11	2012-03-07			ENSG00000186795	ENSG00000186795		"Potassium channels", "Voltage-gated ion channels / Potassium channels, Two-P"	19439	protein-coding gene	gene with protein product	"TWIK related spinal cord K+ channel"	613655				16382106	Standard	NM_181840		Approved	K2p18.1, TRESK-2, TRESK2, TRESK, TRIK	uc010qsr.2	Q7Z418	OTTHUMG00000019120	ENST00000334549.1:c.879C>A	10.37:g.118969534C>A	ENSP00000334650:p.Tyr293*						p.Y293*	NM_181840.1	NP_862823.1	Q7Z418	KCNKI_HUMAN		all cancers(201;0.0211)	3	879	+		Colorectal(252;0.19)	293					Q5SQQ8	Nonsense_Mutation	SNP	ENST00000334549.1	37	c.879C>A	CCDS7598.1	.	.	.	.	.	.	.	.	.	.	C	26.4	4.737231	0.89482	.	.	ENSG00000186795	ENST00000334549	.	.	.	5.4	4.5	0.54988	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.4343	0.44426	0.0:0.8513:0.0:0.1487	.	.	.	.	X	293	.	ENSP00000334650:Y293X	Y	+	3	2	KCNK18	118959524	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	1.993000	0.40747	1.428000	0.47296	0.655000	0.94253	TAC		0.498	KCNK18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050562.2	NM_181840		9	152	1	0	5.4927e-09	1	6.35997e-09	9	152					A	118969534	C	A	118969534	4	1	293	1	0	0	0	0	0	1	0	0	8065	489	17	5	889	5	KCNK18	10	118969534	Nonsense_Mutation	SNP	C	TCGA-J9-A8CP-01A-11D-A34U-08	48029355	118969534	16565213	20	14142											
PDZD8	118987	broad.mit.edu	37	chr10	119078421	119078421	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctgtttttcttcccaaacacTactgcttaactcaagtgtgc	9	15	5	12	0	2	0	1	0	1	0	3	0	3	0	1	0	5	2	1	0	4	5			TCGA-J9-A8CP-01A-11D-A34U-08	TCGA-J9-A8CP-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6fc7ff0-f510-4b66-b422-4e9a5c0552d6	38604397-3014-4f48-9b92-dbdb45f28a33	g.chr10:119078421T>C	ENST00000334464.5	-	3	1299	c.1060A>G	c.(1060-1062)Agt>Ggt	p.S354G		NM_173791.3	NP_776152.1	Q8NEN9	PDZD8_HUMAN	PDZ domain containing 8	354					cytoskeleton organization (GO:0007010)|intracellular signal transduction (GO:0035556)|regulation of cell morphogenesis (GO:0022604)|viral process (GO:0016032)	membrane (GO:0016020)	metal ion binding (GO:0046872)			kidney(3)|large_intestine(8)|lung(24)|upper_aerodigestive_tract(3)	38		Colorectal(252;0.19)		all cancers(201;0.0121)		TCCCAAACACTACTGCTTAAC	0.328																																						ENST00000334464.5																			0				kidney(3)|large_intestine(8)|lung(24)|upper_aerodigestive_tract(3)	38						c.(1060-1062)Agt>Ggt		PDZ domain containing 8							118	115	116					10																	119078421		2203	4299	6502	SO:0001583	missense	118987				intracellular signal transduction		metal ion binding	g.chr10:119078421T>C	AL122051	CCDS7600.1	10q26.12	2006-01-24		2006-01-24	ENSG00000165650	ENSG00000165650			26974	protein-coding gene	gene with protein product		614235		PDZK8		12477932	Standard	NM_173791		Approved	bA129M16.2, FLJ34427	uc001lde.1	Q8NEN9	OTTHUMG00000019122	ENST00000334464.5:c.1060A>G	10.37:g.119078421T>C	ENSP00000334642:p.Ser354Gly						p.S354G	NM_173791.3	NP_776152.1	Q8NEN9	PDZD8_HUMAN		all cancers(201;0.0121)	3	1299	-		Colorectal(252;0.19)	354					Q86WE0|Q86WE5|Q9UFF1	Missense_Mutation	SNP	ENST00000334464.5	37	c.1060A>G	CCDS7600.1	.	.	.	.	.	.	.	.	.	.	T	1.176	-0.639544	0.03557	.	.	ENSG00000165650	ENST00000334464	D	0.85556	-2.0	5.38	-0.298	0.12814	.	0.748210	0.13462	N	0.386089	T	0.69278	0.3093	L	0.27053	0.805	0.23700	N	0.997071	B	0.02656	0.0	B	0.01281	0.0	T	0.50617	-0.8807	10	0.11485	T	0.65	-2.6875	5.3151	0.15850	0.1364:0.3695:0.0:0.4941	.	354	Q8NEN9	PDZD8_HUMAN	G	354	ENSP00000334642:S354G	ENSP00000334642:S354G	S	-	1	0	PDZD8	119068411	0.887000	0.30362	0.997000	0.53966	0.447000	0.32167	-0.172000	0.09868	0.030000	0.15379	-0.924000	0.02725	AGT		0.328	PDZD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050565.1	NM_173791		22	38	0	0	0	1	0	22	38					C	119078421	T	C	119078421	3	2	293	1	0	0	0	0	1	0	0	0	11705	1522	53	4	2416	4	PDZD8	10	119078421	Missense_Mutation	SNP	T	TCGA-J9-A8CP-01A-11D-A34U-08	108887	119078421	16456326	21	14143											
TNKS1BP1	85456	broad.mit.edu	37	chr11	57069307	57069307	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ggctgaggggctcaggccagGaaagaggttgactttcagcc	9	7	16	9	0	2	3	2	2	0	1	2	4	2	4	2	6	1	3	2	6	1	2	rs373036277		TCGA-J9-A8CP-01A-11D-A34U-08	TCGA-J9-A8CP-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6fc7ff0-f510-4b66-b422-4e9a5c0552d6	38604397-3014-4f48-9b92-dbdb45f28a33	g.chr11:57069307G>A	ENST00000532437.1	-	8	5256	c.4945C>T	c.(4945-4947)Cct>Tct	p.P1649S	TNKS1BP1_ENST00000358252.3_Missense_Mutation_p.P1649S			Q9C0C2	TB182_HUMAN	tankyrase 1 binding protein 1, 182kDa	1649	Arg/Glu/Lys-rich (charged).				gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|RNA metabolic process (GO:0016070)|telomere maintenance via telomerase (GO:0007004)	CCR4-NOT complex (GO:0030014)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nuclear telomeric heterochromatin (GO:0005724)|nucleus (GO:0005634)	ankyrin binding (GO:0030506)|enzyme binding (GO:0019899)			breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	64		all_epithelial(135;0.21)				CTCAGGCCAGGAAAGAGGTTG	0.557																																						ENST00000532437.1																			0				breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						c.(4945-4947)Cct>Tct		tankyrase 1 binding protein 1, 182kDa							107	92	97					11																	57069307		2201	4296	6497	SO:0001583	missense	85456				nuclear-transcribed mRNA poly(A) tail shortening|telomere maintenance via telomerase	cytoskeleton|cytosol|nuclear telomeric heterochromatin	ankyrin binding|enzyme binding	g.chr11:57069307G>A	AB051528	CCDS7951.1	11q12.2	2008-07-21			ENSG00000149115	ENSG00000149115			19081	protein-coding gene	gene with protein product		607104				11854288	Standard	NM_033396		Approved	TAB182, KIAA1741, FLJ45975	uc001njs.3	Q9C0C2	OTTHUMG00000167022	ENST00000532437.1:c.4945C>T	11.37:g.57069307G>A	ENSP00000437271:p.Pro1649Ser					TNKS1BP1_ENST00000358252.3_Missense_Mutation_p.P1649S	p.P1649S			Q9C0C2	TB182_HUMAN			8	5256	-		all_epithelial(135;0.21)	1649			Arg/Glu/Lys-rich (charged).		A7E2F8|Q6PJ35|Q6ZV74	Missense_Mutation	SNP	ENST00000532437.1	37	c.4945C>T	CCDS7951.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.213797	0.79352	.	.	ENSG00000149115	ENST00000358252;ENST00000532437	D;D	0.82984	-1.67;-1.67	4.94	4.94	0.65067	.	0.000000	0.85682	D	0.000000	D	0.89480	0.6727	M	0.64997	1.995	0.47374	D	0.999405	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	D	0.90598	0.4542	10	0.87932	D	0	-11.2531	15.0981	0.72250	0.0:0.0:1.0:0.0	.	1649;231	Q9C0C2;Q86TK2	TB182_HUMAN;.	S	1649	ENSP00000350990:P1649S;ENSP00000437271:P1649S	ENSP00000350990:P1649S	P	-	1	0	TNKS1BP1	56825883	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	5.588000	0.67517	2.290000	0.77057	0.561000	0.74099	CCT		0.557	TNKS1BP1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392455.1	NM_033396		15	34	0	0	0	1	0	15	34					A	57069307	G	A	57069307	3	1	293	1	0	0	0	0	1	0	0	0	16317	1174	41	3	256	3	TNKS1BP1	11	57069307	Missense_Mutation	SNP	G	TCGA-J9-A8CP-01A-11D-A34U-08		57069307	77937209	22	14144											
CHD4	1108	broad.mit.edu	37	chr12	6711128	6711128	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggatggaggtccaggcacctTtgaatcatcatcatcatcct	10	11	9	11	0	4	1	4	1	0	0	6	3	6	3	3	4	0	1	3	4	1	1			TCGA-J9-A8CP-01A-11D-A34U-08	TCGA-J9-A8CP-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6fc7ff0-f510-4b66-b422-4e9a5c0552d6	38604397-3014-4f48-9b92-dbdb45f28a33	g.chr12:6711128T>C	ENST00000357008.2	-	4	599	c.436A>G	c.(436-438)Aag>Gag	p.K146E	CHD4_ENST00000544040.1_Missense_Mutation_p.K139E|CHD4_ENST00000544484.1_Missense_Mutation_p.K143E|CHD4_ENST00000309577.6_Missense_Mutation_p.K146E	NM_001273.2	NP_001264.2	Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	146					ATP-dependent chromatin remodeling (GO:0043044)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|spindle assembly (GO:0051225)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|NuRD complex (GO:0016581)|protein complex (GO:0043234)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|RNA polymerase II repressing transcription factor binding (GO:0001103)|zinc ion binding (GO:0008270)			central_nervous_system(2)	2						CCAGGCACCTTTGAATCATCA	0.433																																					Colon(32;586 792 4568 16848 45314)	ENST00000309577.6																			0				central_nervous_system(2)	2						c.(436-438)Aag>Gag		chromodomain helicase DNA binding protein 4							43	45	44					12																	6711128		2178	4279	6457	SO:0001583	missense	1108				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding	g.chr12:6711128T>C	X86691	CCDS8552.1	12p13	2013-01-28				ENSG00000111642		"Zinc fingers, PHD-type"	1919	protein-coding gene	gene with protein product		603277				7575689, 8843877	Standard	XM_006718958		Approved	Mi-2b, Mi2-BETA	uc001qpo.3	Q14839		ENST00000357008.2:c.436A>G	12.37:g.6711128T>C	ENSP00000349508:p.Lys146Glu					CHD4_ENST00000544040.1_Missense_Mutation_p.K139E|CHD4_ENST00000357008.2_Missense_Mutation_p.K146E|CHD4_ENST00000544484.1_Missense_Mutation_p.K143E	p.K146E			Q14839	CHD4_HUMAN			4	599	-			146					Q8IXZ5	Missense_Mutation	SNP	ENST00000357008.2	37	c.436A>G	CCDS8552.1	.	.	.	.	.	.	.	.	.	.	T	6.256	0.415358	0.11870	.	.	ENSG00000111642	ENST00000544484;ENST00000544040;ENST00000309577;ENST00000357008;ENST00000537464;ENST00000545942	D;D;D;D;T	0.90324	-2.63;-2.65;-2.64;-2.65;0.81	5.73	5.73	0.89815	.	0.334814	0.31685	N	0.007231	D	0.87026	0.6075	L	0.50333	1.59	0.47476	D	0.999435	B;B;B	0.32101	0.356;0.243;0.356	B;B;B	0.33454	0.164;0.079;0.164	D	0.83946	0.0314	10	0.08837	T	0.75	0.0912	15.6955	0.77494	0.0:0.0:0.0:1.0	.	146;146;139	Q14839-2;Q14839;F5GWX5	.;CHD4_HUMAN;.	E	143;139;146;146;120;146	ENSP00000440392:K143E;ENSP00000440542:K139E;ENSP00000312419:K146E;ENSP00000349508:K146E;ENSP00000437506:K146E	ENSP00000312419:K146E	K	-	1	0	CHD4	6581389	1.000000	0.71417	1.000000	0.80357	0.576000	0.36127	2.920000	0.48844	2.190000	0.69967	0.528000	0.53228	AAG		0.433	CHD4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001273		9	31	0	0	0	1	0	9	31					C	6711128	T	C	6711128	3	2	293	1	0	0	0	0	1	0	0	0	3327	1850	64	4	5450	4	CHD4	12	6711128	Missense_Mutation	SNP	T	TCGA-J9-A8CP-01A-11D-A34U-08		6711128	127140767	23	14145											
ADAMTS20	80070	broad.mit.edu	37	chr12	43821152	43821152	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ccactgtggacaaggccctgGaccacattgctgtaactctg	9	9	10	13	0	1	0	0	0	1	0	1	2	1	2	3	3	2	2	3	3	2	2			TCGA-J9-A8CP-01A-11D-A34U-08	TCGA-J9-A8CP-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6fc7ff0-f510-4b66-b422-4e9a5c0552d6	38604397-3014-4f48-9b92-dbdb45f28a33	g.chr12:43821152G>T	ENST00000389420.3	-	27	4065	c.4066C>A	c.(4066-4068)Cca>Aca	p.P1356T	ADAMTS20_ENST00000553158.1_Missense_Mutation_p.P1356T|ADAMTS20_ENST00000395541.2_Missense_Mutation_p.P474T	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	1356	TSP type-1 9. {ECO:0000255|PROSITE- ProRule:PRU00210}.				extracellular matrix organization (GO:0030198)|negative regulation of apoptotic process (GO:0043066)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of signal transduction (GO:0009967)	extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		CAAGGCCCTGGACCACATTGC	0.448																																						ENST00000389420.3																			0				breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						c.(4066-4068)Cca>Aca		ADAM metallopeptidase with thrombospondin type 1 motif, 20							114	90	98					12																	43821152		2203	4300	6503	SO:0001583	missense	80070					proteinaceous extracellular matrix	zinc ion binding	g.chr12:43821152G>T	AF488804	CCDS31778.2	12q12	2005-08-19	2005-08-19			ENSG00000173157		"ADAM metallopeptidases with thrombospondin type 1 motif"	17178	protein-coding gene	gene with protein product		611681	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 20"			12514189, 12562771	Standard	NM_025003		Approved	GON-1	uc010skx.2	P59510		ENST00000389420.3:c.4066C>A	12.37:g.43821152G>T	ENSP00000374071:p.Pro1356Thr					ADAMTS20_ENST00000395541.2_Missense_Mutation_p.P474T|ADAMTS20_ENST00000553158.1_Missense_Mutation_p.P1356T	p.P1356T	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN		GBM - Glioblastoma multiforme(48;0.0473)	27	4065	-	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)	1356			TSP type-1 9.		A6NNC9|J3QT00	Missense_Mutation	SNP	ENST00000389420.3	37	c.4066C>A	CCDS31778.2	.	.	.	.	.	.	.	.	.	.	G	3.799	-0.042018	0.07452	.	.	ENSG00000173157	ENST00000389420;ENST00000549670;ENST00000395541;ENST00000553158;ENST00000389417	T;T;T;T	0.62232	0.04;0.69;0.69;0.04	4.94	-2.86	0.05717	.	0.483471	0.17194	N	0.183388	T	0.23451	0.0567	N	0.01817	-0.705	0.09310	N	1	B;B	0.09022	0.001;0.002	B;B	0.14023	0.002;0.01	T	0.13469	-1.0508	10	0.24483	T	0.36	.	0.9001	0.01272	0.4763:0.1239:0.1601:0.2398	.	1356;474	P59510;E9PBD5	ATS20_HUMAN;.	T	1356;486;474;1356;1356	ENSP00000374071:P1356T;ENSP00000447427:P486T;ENSP00000378911:P474T;ENSP00000448341:P1356T	ENSP00000374068:P1356T	P	-	1	0	ADAMTS20	42107419	0.994000	0.37717	0.006000	0.13384	0.517000	0.34286	2.284000	0.43478	-0.218000	0.10018	-0.355000	0.07637	CCA		0.448	ADAMTS20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403643.1	NM_025003		12	41	1	0	7.03913e-09	1	7.94158e-09	12	41					T	43821152	G	T	43821152	3	4	293	1	0	0	0	0	1	0	0	0	266	1174	41	5	1717	5	ADAMTS20	12	43821152	Missense_Mutation	SNP	G	TCGA-J9-A8CP-01A-11D-A34U-08	37110024	43821152	90030743	24	14146											
PAN2	9924	broad.mit.edu	37	chr12	56720445	56720445	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaggccaatcagagagaagTgtgtcagtggtgagtgggac	11	7	17	6	0	2	3	2	1	0	2	2	5	2	4	1	3	0	1	1	3	2	0			TCGA-J9-A8CP-01A-11D-A34U-08	TCGA-J9-A8CP-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6fc7ff0-f510-4b66-b422-4e9a5c0552d6	38604397-3014-4f48-9b92-dbdb45f28a33	g.chr12:56720445T>C	ENST00000425394.2	-	7	1594	c.1218A>G	c.(1216-1218)acA>acG	p.T406T	PAN2_ENST00000440411.3_Silent_p.T406T|PAN2_ENST00000257931.5_Silent_p.T406T|PAN2_ENST00000548043.1_Silent_p.T406T	NM_001127460.2	NP_001120932	Q9HBH5	RDH14_HUMAN	PAN2 poly(A) specific ribonuclease subunit	0					osteoblast differentiation (GO:0001649)	endoplasmic reticulum (GO:0005783)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	oxidoreductase activity (GO:0016491)			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	41					Vitamin A(DB00162)	CAGAGAGAAGTGTGTCAGTGG	0.587																																						ENST00000425394.2																			0				NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						c.(1216-1218)acA>acG		PAN2 poly(A) specific ribonuclease subunit homolog (S. cerevisiae)							60	53	55					12																	56720445		2203	4299	6502	SO:0001819	synonymous_variant	9924				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|ubiquitin-dependent protein catabolic process	cytosol|nucleus	nucleic acid binding|poly(A)-specific ribonuclease activity|ubiquitin thiolesterase activity	g.chr12:56720445T>C	AB014610	CCDS8915.1, CCDS44922.1, CCDS53802.1	12q13.2	2014-03-27	2014-03-27	2008-01-08		ENSG00000135473		"Ubiquitin-specific peptidases"	20074	protein-coding gene	gene with protein product	"PAN2 homolog, PABP1 dependent poly A specific ribonuclease subunit (S. cerevisiae)"		"ubiquitin specific protease 52", "ubiquitin specific peptidase 52", "PAN2 poly(A) specific ribonuclease subunit homolog (S. cerevisiae)"	USP52		12838346, 14583602	Standard	NM_014871		Approved	KIAA0710, hPAN2	uc001skx.3	Q504Q3	OTTHUMG00000170412	ENST00000425394.2:c.1218A>G	12.37:g.56720445T>C						PAN2_ENST00000257931.5_Silent_p.T406T|PAN2_ENST00000440411.3_Silent_p.T406T|PAN2_ENST00000548043.1_Silent_p.T406T	p.T406T	NM_001127460.2	NP_001120932.1	Q504Q3	PAN2_HUMAN			7	1594	-			406						Silent	SNP	ENST00000425394.2	37	c.1218A>G	CCDS44922.1																																																																																				0.587	PAN2-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000409024.1	NM_014871		11	25	0	0	0	1	0	11	25					C	56720445	T	C	56720445	2	2	293	1	0	0	0	0	0	0	0	1	11414	1683	59	4		4	PAN2	12	56720445	Silent	SNP	T	TCGA-J9-A8CP-01A-11D-A34U-08	12899293	56720445	77131450	25	14147											
IL22	50616	broad.mit.edu	37	chr12	68642636	68642636	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tccagttctccaattgctttGatctctccactctctccaag	7	15	4	15	0	3	1	0	1	3	0	9	1	6	1	4	0	1	2	4	0	2	3			TCGA-J9-A8CP-01A-11D-A34U-08	TCGA-J9-A8CP-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6fc7ff0-f510-4b66-b422-4e9a5c0552d6	38604397-3014-4f48-9b92-dbdb45f28a33	g.chr12:68642636G>C	ENST00000538666.1	-	6	553	c.483C>G	c.(481-483)atC>atG	p.I161M	IL22_ENST00000328087.4_Missense_Mutation_p.I161M			Q9GZX6	IL22_HUMAN	interleukin 22	161					acute-phase response (GO:0006953)|cell-cell signaling (GO:0007267)|inflammatory response (GO:0006954)|response to glucocorticoid (GO:0051384)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	interleukin-22 receptor binding (GO:0045518)			breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)	14		Myeloproliferative disorder(1001;0.0255)	Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018)	GBM - Glioblastoma multiforme(7;5.06e-05)|BRCA - Breast invasive adenocarcinoma(357;0.00104)		CAATTGCTTTGATCTCTCCAC	0.368																																						ENST00000538666.1																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)	14						c.(481-483)atC>atG		interleukin 22							169	169	169					12																	68642636		2203	4300	6503	SO:0001583	missense	50616				acute-phase response	extracellular space	cytokine activity|interleukin-22 receptor binding	g.chr12:68642636G>C	AF279437	CCDS8982.1	12q15	2014-05-22			ENSG00000127318	ENSG00000127318		"Interleukins and interleukin receptors"	14900	protein-coding gene	gene with protein product	"IL-10-related T-cell-derived inducible factor"	605330				10954742, 10875937	Standard	NM_020525		Approved	ILTIF, IL-21, zcyto18, IL-TIF, IL-D110, TIFa, TIFIL-23, IL-22, MGC79382, MGC79384	uc001sty.1	Q9GZX6	OTTHUMG00000169119	ENST00000538666.1:c.483C>G	12.37:g.68642636G>C	ENSP00000442424:p.Ile161Met					IL22_ENST00000328087.4_Missense_Mutation_p.I161M	p.I161M			Q9GZX6	IL22_HUMAN	Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018)	GBM - Glioblastoma multiforme(7;5.06e-05)|BRCA - Breast invasive adenocarcinoma(357;0.00104)	6	553	-		Myeloproliferative disorder(1001;0.0255)	161						Missense_Mutation	SNP	ENST00000538666.1	37	c.483C>G	CCDS8982.1	.	.	.	.	.	.	.	.	.	.	G	15.24	2.774999	0.49786	.	.	ENSG00000127318	ENST00000538666;ENST00000328087	T;T	0.45668	0.89;0.89	4.93	1.9	0.25705	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	0.173321	0.39759	N	0.001277	T	0.54902	0.1887	M	0.63428	1.95	0.32565	N	0.530568	D	0.71674	0.998	D	0.87578	0.998	T	0.60722	-0.7207	9	.	.	.	-24.4036	7.4388	0.27171	0.4123:0.0:0.5877:0.0	.	161	Q9GZX6	IL22_HUMAN	M	161	ENSP00000442424:I161M;ENSP00000329384:I161M	.	I	-	3	3	IL22	66928903	0.996000	0.38824	1.000000	0.80357	0.998000	0.95712	0.456000	0.21859	0.261000	0.21753	0.561000	0.74099	ATC		0.368	IL22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402318.1	NM_020525		7	205	0	0	0	1	0	7	205					C	68642636	G	C	68642636	3	2	293	1	0	0	0	0	1	0	0	0	7672	1280	45	5	60	5	IL22	12	68642636	Missense_Mutation	SNP	G	TCGA-J9-A8CP-01A-11D-A34U-08	11922191	68642636	65209259	26	14148											
FOXA1	3169	broad.mit.edu	37	chr14	38061202	38061208	+	Frame_Shift_Del	DEL	GGCGGCG	GGCGGCG	-																															ctcgcacttgaagcgcttctGgcggcgcaagtagcagccgt																										TCGA-J9-A8CP-01A-11D-A34U-08	TCGA-J9-A8CP-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6fc7ff0-f510-4b66-b422-4e9a5c0552d6	38604397-3014-4f48-9b92-dbdb45f28a33	g.chr14:38061202_38061208delGGCGGCG	ENST00000250448.2	-	2	842_848	c.781_787delCGCCGCC	c.(781-789)cgccgccagfs	p.RRQ261fs	FOXA1_ENST00000545425.2_5'UTR|FOXA1_ENST00000540786.1_Frame_Shift_Del_p.RRQ228fs	NM_004496.3	NP_004487.2	P55317	FOXA1_HUMAN	forkhead box A1	261					anatomical structure formation involved in morphogenesis (GO:0048646)|chromatin remodeling (GO:0006338)|dorsal/ventral neural tube patterning (GO:0021904)|epithelial cell maturation involved in prostate gland development (GO:0060743)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|epithelial-mesenchymal signaling involved in prostate gland development (GO:0060738)|glucose homeostasis (GO:0042593)|hormone metabolic process (GO:0042445)|lung epithelial cell differentiation (GO:0060487)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron fate specification (GO:0048665)|positive regulation of cell-cell adhesion mediated by cadherin (GO:2000049)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prostate gland epithelium morphogenesis (GO:0060740)|prostate gland stromal morphogenesis (GO:0060741)|response to estradiol (GO:0032355)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)	microvillus (GO:0005902)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|endometrium(1)|large_intestine(2)|lung(3)|prostate(12)	19	Breast(36;0.0954)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		Lung(238;5.41e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0454)|LUSC - Lung squamous cell carcinoma(13;0.0917)|all cancers(34;0.0925)|BRCA - Breast invasive adenocarcinoma(188;0.239)	GBM - Glioblastoma multiforme(112;0.0222)		AAGCGCTTCTGGCGGCGCAAGTAGCAG	0.71																																						ENST00000250448.2																			0				breast(1)|endometrium(1)|large_intestine(2)|lung(3)|prostate(12)	19						c.(781-789)agfs		forkhead box A1																																				SO:0001589	frameshift_variant	3169				chromatin remodeling|embryo development|epithelial cell maturation involved in prostate gland development|epithelial tube branching involved in lung morphogenesis|epithelial-mesenchymal signaling involved in prostate gland development|glucose homeostasis|lung epithelial cell differentiation|negative regulation of survival gene product expression|neuron fate specification|pattern specification process|positive regulation of estrogen receptor signaling pathway|positive regulation of mitotic cell cycle|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|prostate gland epithelium morphogenesis|prostate gland stromal morphogenesis|response to estradiol stimulus|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development	transcription factor complex	DNA bending activity|double-stranded DNA binding|protein domain specific binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding	g.chr14:38061202_38061208delGGCGGCG	U39840	CCDS9665.1	14q12-q13	2008-04-10		2002-09-20	ENSG00000129514	ENSG00000129514		"Forkhead boxes"	5021	protein-coding gene	gene with protein product		602294	"hepatocyte nuclear factor 3, alpha"	HNF3A		9119385, 8652662	Standard	NM_004496		Approved		uc001wuf.4	P55317	OTTHUMG00000140253	ENST00000250448.2:c.781_787delCGCCGCC	14.37:g.38061202_38061208delGGCGGCG	ENSP00000250448:p.Arg261fs					FOXA1_ENST00000540786.1_Frame_Shift_Del_p.RRQ228fs|FOXA1_ENST00000545425.2_5'UTR	p.RRQ261fs	NM_004496.3	NP_004487.2	P55317	FOXA1_HUMAN	Lung(238;5.41e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0454)|LUSC - Lung squamous cell carcinoma(13;0.0917)|all cancers(34;0.0925)|BRCA - Breast invasive adenocarcinoma(188;0.239)	GBM - Glioblastoma multiforme(112;0.0222)	2	842_848	-	Breast(36;0.0954)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		261					B2R9H6|B7ZAP5|Q9H2A0	Frame_Shift_Del	DEL	ENST00000250448.2	37	c.781_787delCGCCGCC	CCDS9665.1																																																																																				0.71	FOXA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276735.1			8	27						8	27	---	---	---	---	-	38061208	GGCGGCG	-	38061202	7	5	293	1	0	1	0	1	0	0	0	0	5989	1357	47	0	635	0	FOXA1	14	38061202	Frame_Shift_Del	DEL	GGCGGCG	TCGA-J9-A8CP-01A-11D-A34U-08		38061202	69288338	27	14149											
ZFP106	64397	broad.mit.edu	37	chr15	42720231	42720231	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctaacctttatgttgaaggtGaccacagtgccatttgccag	10	12	9	10	0	0	2	0	2	0	0	0	2	0	2	4	1	3	1	4	1	3	5			TCGA-J9-A8CP-01A-11D-A34U-08	TCGA-J9-A8CP-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6fc7ff0-f510-4b66-b422-4e9a5c0552d6	38604397-3014-4f48-9b92-dbdb45f28a33	g.chr15:42720231G>T	ENST00000263805.4	-	12	5240	c.4914C>A	c.(4912-4914)gtC>gtA	p.V1638V	RNU6-188P_ENST00000364207.1_RNA|ZNF106_ENST00000565380.1_Silent_p.V866V|ZNF106_ENST00000565611.1_Silent_p.V823V	NM_001284306.1|NM_001284307.1|NM_022473.1	NP_001271235.1|NP_001271236.1|NP_071918.1	Q9H2Y7	ZN106_HUMAN	zinc finger protein 106	1638					insulin receptor signaling pathway (GO:0008286)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)										TGTTGAAGGTGACCACAGTGC	0.522																																						ENST00000263805.4																			0											c.(4912-4914)gtC>gtA		zinc finger protein 106							171	138	149					15																	42720231		2203	4299	6502	SO:0001819	synonymous_variant	64397							g.chr15:42720231G>T	AF205632	CCDS32208.1, CCDS61602.1, CCDS61603.1	15q15.1	2012-11-27	2012-11-27		ENSG00000103994	ENSG00000103994		"Zinc fingers, C2H2-type"	12886	protein-coding gene	gene with protein product	"SH3-domain binding protein 3"		"zinc finger protein 106 homolog (mouse)"	ZFP106			Standard	XM_005254591		Approved	ZNF474, SH3BP3	uc001zpw.3	Q9H2Y7	OTTHUMG00000173244	ENST00000263805.4:c.4914C>A	15.37:g.42720231G>T						ZNF106_ENST00000565611.1_Silent_p.V823V|ZNF106_ENST00000565380.1_Silent_p.V866V	p.V1638V	NM_022473.1	NP_071918.1					12	5240	-								B4DZ40|E9PE29|Q6NSD9|Q6PEK1|Q86T43|Q86T45|Q86T50|Q86T58|Q86TA9|Q96M37|Q9H7B8	Silent	SNP	ENST00000263805.4	37	c.4914C>A	CCDS32208.1																																																																																				0.522	ZNF106-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422587.1	NM_022473		4	146	1	0	0.00024832	1	0.000260145	4	146					T	42720231	G	T	42720231	2	4	293	1	0	0	0	0	0	0	0	1	17634	1277	45	5		5	ZFP106	15	42720231	Silent	SNP	G	TCGA-J9-A8CP-01A-11D-A34U-08		42720231	59811161	28	14150											
USP8	9101	broad.mit.edu	37	chr15	50782019	50782019	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctcaacgagaacctttgacaAgagcacgaagtgaagaaatg	17	6	10	8	2	1	5	1	2	0	3	1	7	1	5	1	0	3	1	1	0	6	1			TCGA-J9-A8CP-01A-11D-A34U-08	TCGA-J9-A8CP-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6fc7ff0-f510-4b66-b422-4e9a5c0552d6	38604397-3014-4f48-9b92-dbdb45f28a33	g.chr15:50782019A>G	ENST00000396444.3	+	13	2250	c.1912A>G	c.(1912-1914)Aga>Gga	p.R638G	USP8_ENST00000307179.4_Missense_Mutation_p.R638G|USP8_ENST00000433963.1_Missense_Mutation_p.R638G|USP8_ENST00000425032.3_Missense_Mutation_p.R532G	NM_001128610.1|NM_005154.3	NP_001122082.1|NP_005145.3	P40818	UBP8_HUMAN	ubiquitin specific peptidase 8	638					cell proliferation (GO:0008283)|endosome organization (GO:0007032)|mitotic cytokinesis (GO:0000281)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|Ras protein signal transduction (GO:0007265)|ubiquitin-dependent protein catabolic process (GO:0006511)	acrosomal vesicle (GO:0001669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|extrinsic component of plasma membrane (GO:0019897)|midbody (GO:0030496)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|ubiquitin-specific protease activity (GO:0004843)			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35				all cancers(107;0.000225)|GBM - Glioblastoma multiforme(94;0.000771)		ACCTTTGACAAGAGCACGAAG	0.323																																						ENST00000433963.1																			0				central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						c.(1912-1914)Aga>Gga		ubiquitin specific peptidase 8							49	50	50					15																	50782019		2196	4294	6490	SO:0001583	missense	9101				cell cycle|cell proliferation|endosome organization|protein K48-linked deubiquitination|protein K63-linked deubiquitination|ubiquitin-dependent protein catabolic process	cytosol|early endosome|extrinsic to plasma membrane|nucleus	cysteine-type endopeptidase activity|SH3 domain binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr15:50782019A>G	D29956	CCDS10137.1, CCDS61632.1	15q21.1	2014-03-03	2005-08-08		ENSG00000138592	ENSG00000138592		"Ubiquitin-specific peptidases"	12631	protein-coding gene	gene with protein product		603158	"ubiquitin specific protease 8"			12838346, 9582025, 24482476	Standard	NM_005154		Approved	HumORF8, KIAA0055, UBPY, SPG59	uc001zyl.4	P40818	OTTHUMG00000131645	ENST00000396444.3:c.1912A>G	15.37:g.50782019A>G	ENSP00000379721:p.Arg638Gly					USP8_ENST00000396444.3_Missense_Mutation_p.R638G|USP8_ENST00000307179.4_Missense_Mutation_p.R638G|USP8_ENST00000425032.3_Missense_Mutation_p.R532G	p.R638G	NM_001128611.1	NP_001122083.1	P40818	UBP8_HUMAN		all cancers(107;0.000225)|GBM - Glioblastoma multiforme(94;0.000771)	14	2412	+			638					B4DKA8|Q2TB31|Q7Z3U2|Q86VA0|Q8IWI7	Missense_Mutation	SNP	ENST00000396444.3	37	c.1912A>G	CCDS10137.1	.	.	.	.	.	.	.	.	.	.	A	19.67	3.871737	0.72065	.	.	ENSG00000138592	ENST00000396444;ENST00000433963;ENST00000307179;ENST00000425032	T;T;T;T	0.25250	1.81;1.81;1.81;2.07	5.11	5.11	0.69529	.	0.000000	0.85682	D	0.000000	T	0.35624	0.0938	L	0.36672	1.1	0.54753	D	0.999987	D;D	0.65815	0.995;0.988	P;P	0.60682	0.878;0.803	T	0.09509	-1.0671	10	0.62326	D	0.03	-25.2658	11.2825	0.49203	0.8474:0.1526:0.0:0.0	.	532;638	B4DKA8;P40818	.;UBP8_HUMAN	G	638;638;638;532	ENSP00000379721:R638G;ENSP00000405537:R638G;ENSP00000302239:R638G;ENSP00000412682:R532G	ENSP00000302239:R638G	R	+	1	2	USP8	48569311	0.991000	0.36638	1.000000	0.80357	0.951000	0.60555	2.436000	0.44819	2.052000	0.61016	0.477000	0.44152	AGA		0.323	USP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254541.1	NM_005154		10	23	0	0	0	1	0	10	23					G	50782019	A	G	50782019	3	3	293	1	0	0	0	0	1	0	0	0	17086	64	3	4	1958	4	USP8	15	50782019	Missense_Mutation	SNP	A	TCGA-J9-A8CP-01A-11D-A34U-08	8061788	50782019	51749373	29	14151											
MYH10	4628	broad.mit.edu	37	chr17	8380302	8380302	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gagatgcgttggcacgcgtcGcttcttcttctgcttcctcc	3	14	10	14	4	3	1	0	0	3	1	6	2	5	1	2	1	2	4	2	1	0	5			TCGA-J9-A8CP-01A-11D-A34U-08	TCGA-J9-A8CP-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6fc7ff0-f510-4b66-b422-4e9a5c0552d6	38604397-3014-4f48-9b92-dbdb45f28a33	g.chr17:8380302G>A	ENST00000269243.4	-	40	5816	c.5678C>T	c.(5677-5679)gCg>gTg	p.A1893V	MYH10_ENST00000379980.4_Missense_Mutation_p.A1909V|MYH10_ENST00000360416.3_Missense_Mutation_p.A1924V|MYH10_ENST00000396239.1_Missense_Mutation_p.A1914V|NDEL1_ENST00000299734.7_Intron	NM_005964.3	NP_005955.3	P35580	MYH10_HUMAN	myosin, heavy chain 10, non-muscle	1893					actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cardiac myofibril assembly (GO:0055003)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|cerebellar Purkinje cell layer development (GO:0021680)|exocytosis (GO:0006887)|fourth ventricle development (GO:0021592)|in utero embryonic development (GO:0001701)|lateral ventricle development (GO:0021670)|mitotic cytokinesis (GO:0000281)|neuromuscular process controlling balance (GO:0050885)|neuron migration (GO:0001764)|nuclear migration (GO:0007097)|plasma membrane repair (GO:0001778)|regulation of cell shape (GO:0008360)|retina development in camera-type eye (GO:0060041)|substrate-dependent cell migration, cell extension (GO:0006930)|third ventricle development (GO:0021678)|ventricular cardiac muscle cell development (GO:0055015)	actomyosin (GO:0042641)|axon (GO:0030424)|cell cortex (GO:0005938)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|midbody (GO:0030496)|myosin complex (GO:0016459)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle (GO:0005819)|stress fiber (GO:0001725)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1)	52						GGCACGCGTCGCTTCTTCTTC	0.572																																						ENST00000360416.3																			0				breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1)	52						c.(5770-5772)gCg>gTg		myosin, heavy chain 10, non-muscle							84	72	76					17																	8380302		2203	4300	6503	SO:0001583	missense	4628				actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape	cell cortex|cleavage furrow|midbody|myosin complex|stress fiber	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr17:8380302G>A	M69181	CCDS11144.1, CCDS58515.1, CCDS73984.1	17p13	2011-09-27	2006-09-29		ENSG00000133026	ENSG00000133026		"Myosins / Myosin superfamily : Class II"	7568	protein-coding gene	gene with protein product		160776	"myosin, heavy polypeptide 10, non-muscle"			1860190	Standard	NM_001256012		Approved	NMMHCB	uc002glm.4	P35580	OTTHUMG00000108195	ENST00000269243.4:c.5678C>T	17.37:g.8380302G>A	ENSP00000269243:p.Ala1893Val					NDEL1_ENST00000299734.7_Intron|MYH10_ENST00000396239.1_Missense_Mutation_p.A1914V|MYH10_ENST00000379980.4_Missense_Mutation_p.A1909V|MYH10_ENST00000269243.4_Missense_Mutation_p.A1893V	p.A1924V	NM_001256012.1	NP_001242941.1	P35580	MYH10_HUMAN			42	5909	-			1893					B2RWP9|D3DTS1|F8VTL3|Q12989|Q149N3|Q149N4|Q16087|Q4LE45|Q6PK16|Q9BWG0	Missense_Mutation	SNP	ENST00000269243.4	37	c.5771C>T	CCDS11144.1	.	.	.	.	.	.	.	.	.	.	G	18.73	3.685413	0.68157	.	.	ENSG00000133026	ENST00000269243;ENST00000360416;ENST00000396239;ENST00000379980	T;T;T;T	0.76709	-1.04;-1.04;-1.04;-1.04	4.95	4.95	0.65309	Myosin tail (1);	0.000000	0.85682	D	0.000000	T	0.76133	0.3945	L	0.49778	1.585	0.80722	D	1	B;B;B	0.27791	0.189;0.157;0.189	B;B;B	0.31245	0.126;0.077;0.126	T	0.75923	-0.3146	10	0.66056	D	0.02	.	18.3181	0.90227	0.0:0.0:1.0:0.0	.	1902;1924;1893	B2RWP9;F8VTL3;P35580	.;.;MYH10_HUMAN	V	1893;1924;1914;1909	ENSP00000269243:A1893V;ENSP00000353590:A1924V;ENSP00000379539:A1914V;ENSP00000369315:A1909V	ENSP00000269243:A1893V	A	-	2	0	MYH10	8321027	1.000000	0.71417	0.988000	0.46212	0.786000	0.44442	7.746000	0.85057	2.712000	0.92718	0.655000	0.94253	GCG		0.572	MYH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000227001.2			20	48	0	0	0	1	0	20	48					A	8380302	G	A	8380302	3	1	293	1	0	0	0	0	1	0	0	0	10030	1087	38	1	260	1	MYH10	17	8380302	Missense_Mutation	SNP	G	TCGA-J9-A8CP-01A-11D-A34U-08		8380302	72814908	30	14152											
CCR7	1236	broad.mit.edu	37	chr17	38711358	38711358	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcaccttgatggccttgttgCgctcaaagttgcgtgcctgg	5	13	12	11	2	2	1	2	1	0	0	2	1	2	1	3	2	3	3	3	2	1	4			TCGA-J9-A8CP-01A-11D-A34U-08	TCGA-J9-A8CP-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6fc7ff0-f510-4b66-b422-4e9a5c0552d6	38604397-3014-4f48-9b92-dbdb45f28a33	g.chr17:38711358C>A	ENST00000246657.2	-	3	835	c.773G>T	c.(772-774)cGc>cTc	p.R258L	CCR7_ENST00000579344.1_Missense_Mutation_p.R252L	NM_001838.3	NP_001829.1	P32248	CCR7_HUMAN	chemokine (C-C motif) receptor 7	258					activation of Rho GTPase activity (GO:0032862)|cellular response to cytokine stimulus (GO:0071345)|chemokine (C-C motif) ligand 19 signaling pathway (GO:0038115)|chemokine (C-C motif) ligand 21 signaling pathway (GO:0038116)|chemokine-mediated signaling pathway (GO:0070098)|dendritic cell chemotaxis (GO:0002407)|establishment of T cell polarity (GO:0001768)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|interleukin-12 secretion (GO:0072610)|lymphocyte migration into lymph node (GO:0097022)|mature dendritic cell differentiation (GO:0097029)|myeloid dendritic cell chemotaxis (GO:0002408)|negative regulation of leukocyte apoptotic process (GO:2000107)|negative thymic T cell selection (GO:0045060)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell motility (GO:2000147)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of dendritic cell antigen processing and presentation (GO:0002606)|positive regulation of dendritic cell chemotaxis (GO:2000510)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of glycoprotein biosynthetic process involved in immunological synapse formation (GO:2000526)|positive regulation of humoral immune response (GO:0002922)|positive regulation of hypersensitivity (GO:0002885)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of immunological synapse formation (GO:2000522)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of JNK cascade (GO:0046330)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of pseudopodium assembly (GO:0031274)|positive regulation of T cell costimulation (GO:2000525)|positive regulation of T cell receptor signaling pathway (GO:0050862)|regulation of dendritic cell dendrite assembly (GO:2000547)|regulation of interferon-gamma production (GO:0032649)|regulation of interleukin-1 beta secretion (GO:0050706)|release of sequestered calcium ion into cytosol (GO:0051209)|response to lipopolysaccharide (GO:0032496)|response to nitric oxide (GO:0071731)|response to prostaglandin E (GO:0034695)|ruffle organization (GO:0031529)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	C-C chemokine receptor activity (GO:0016493)|C-C motif chemokine 19 receptor activity (GO:0038117)|C-C motif chemokine 21 receptor activity (GO:0038121)|chemokine (C-C motif) ligand 19 binding (GO:0035757)|chemokine (C-C motif) ligand 21 binding (GO:0035758)|G-protein coupled receptor activity (GO:0004930)			breast(1)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8		Breast(137;0.000496)				GGCCTTGTTGCGCTCAAAGTT	0.582																																						ENST00000246657.2																			0				breast(1)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8						c.(772-774)cGc>cTc		chemokine (C-C motif) receptor 7							175	150	158					17																	38711358		2203	4300	6503	SO:0001583	missense	1236				cell maturation|immunological synapse formation|inflammatory response|interleukin-12 secretion|lymphocyte migration into lymph node|positive regulation of dendritic cell antigen processing and presentation|positive regulation of glycoprotein biosynthetic process|positive regulation of humoral immune response|positive regulation of hypersensitivity|positive regulation of interleukin-12 production|positive regulation of neutrophil chemotaxis|regulation of interferon-gamma production|regulation of interleukin-1 beta secretion|T cell costimulation	integral to membrane|intracellular	C-C chemokine receptor activity|chemokine (C-C motif) ligand 19 binding|chemokine (C-C motif) ligand 21 binding	g.chr17:38711358C>A		CCDS11369.1	17q12-q21.2	2012-08-08			ENSG00000126353	ENSG00000126353		"GPCR / Class A : Chemokine receptors : C-C motif", "CD molecules"	1608	protein-coding gene	gene with protein product		600242		CMKBR7, EBI1		8383238	Standard	NM_001838		Approved	BLR2, CDw197, CD197	uc002huw.3	P32248	OTTHUMG00000133375	ENST00000246657.2:c.773G>T	17.37:g.38711358C>A	ENSP00000246657:p.Arg258Leu					CCR7_ENST00000579344.1_Missense_Mutation_p.R252L	p.R258L	NM_001838.3	NP_001829.1	P32248	CCR7_HUMAN			3	835	-		Breast(137;0.000496)	258						Missense_Mutation	SNP	ENST00000246657.2	37	c.773G>T	CCDS11369.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.232559	0.79688	.	.	ENSG00000126353	ENST00000246657	T	0.72615	-0.67	5.84	5.84	0.93424	GPCR, rhodopsin-like superfamily (1);	0.109197	0.52532	D	0.000077	T	0.77592	0.4153	L	0.58428	1.81	0.42641	D	0.99341	P	0.50156	0.932	P	0.62491	0.903	T	0.79247	-0.1882	10	0.87932	D	0	.	7.6552	0.28371	0.0:0.8072:0.0:0.1928	.	258	P32248	CCR7_HUMAN	L	258	ENSP00000246657:R258L	ENSP00000246657:R258L	R	-	2	0	CCR7	35964884	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.920000	0.56446	2.768000	0.95171	0.561000	0.74099	CGC		0.582	CCR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257222.1			4	62	1	0	1	1	1	4	62					A	38711358	C	A	38711358	3	1	293	1	0	0	0	0	1	0	0	0	2946	768	27	5	367	5	CCR7	17	38711358	Missense_Mutation	SNP	C	TCGA-J9-A8CP-01A-11D-A34U-08	30331056	38711358	42483852	31	14153											
MED13	9969	broad.mit.edu	37	chr17	60061727	60061727	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcttatagacataagaaaaaTcctacaatataaagatggta	20	10	6	5	0	0	3	0	0	0	3	1	3	1	3	1	1	1	2	1	1	11	7			TCGA-J9-A8CP-01A-11D-A34U-08	TCGA-J9-A8CP-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6fc7ff0-f510-4b66-b422-4e9a5c0552d6	38604397-3014-4f48-9b92-dbdb45f28a33	g.chr17:60061727T>C	ENST00000397786.2	-	15	2769	c.2693A>G	c.(2692-2694)gAt>gGt	p.D898G		NM_005121.2	NP_005112.2	Q9UHV7	MED13_HUMAN	mediator complex subunit 13	898					androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|receptor activity (GO:0004872)|RNA polymerase II transcription cofactor activity (GO:0001104)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			breast(4)|central_nervous_system(1)|endometrium(10)|kidney(24)|large_intestine(15)|liver(1)|lung(20)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						ATAAGAAAAATCCTACAATAT	0.348																																						ENST00000397786.2																			0				breast(4)|central_nervous_system(1)|endometrium(10)|kidney(24)|large_intestine(15)|liver(1)|lung(20)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						c.e15-1		mediator complex subunit 13							40	38	38					17																	60061727		1792	4061	5853	SO:0001630	splice_region_variant	9969				androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	g.chr17:60061727T>C	AB011165	CCDS42366.1	17q22-q23	2007-07-30	2007-07-30	2007-07-30		ENSG00000108510			22474	protein-coding gene	gene with protein product		603808	"thyroid hormone receptor associated protein 1"	THRAP1		1019863	Standard	NM_005121		Approved	KIAA0593, TRAP240	uc002izo.3	Q9UHV7		ENST00000397786.2:c.2692-1A>G	17.37:g.60061727T>C							p.D898_splice	NM_005121.2	NP_005112.2	Q9UHV7	MED13_HUMAN			15	2769	-			898					B2RU05|O60334	Splice_Site	SNP	ENST00000397786.2	37	c.2691_splice	CCDS42366.1	.	.	.	.	.	.	.	.	.	.	T	22.0	4.228772	0.79576	.	.	ENSG00000108510	ENST00000397786;ENST00000262436	D	0.82081	-1.57	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	D	0.91586	0.7342	M	0.83384	2.64	0.80722	D	1	D	0.69078	0.997	D	0.77004	0.989	D	0.92630	0.6115	10	0.72032	D	0.01	-12.9496	16.1685	0.81786	0.0:0.0:0.0:1.0	.	898	Q9UHV7	MED13_HUMAN	G	898;897	ENSP00000380888:D898G	ENSP00000262436:D897G	D	-	2	0	MED13	57416509	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.586000	0.82596	2.225000	0.72522	0.528000	0.53228	GAT		0.348	MED13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445461.1	NM_005121	Missense_Mutation	15	31	0	0	0	1	0	15	31					C	60061727	T	C	60061727	5	2	293	1	0	0	0	0	0	0	1	0	9430	1449	50	4	3895	4	MED13	17	60061727	Splice_Site	SNP	T	TCGA-J9-A8CP-01A-11D-A34U-08	21350369	60061727	21133483	32	14154											
KIAA0195	9772	broad.mit.edu	37	chr17	73487841	73487841	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acctttccaatgagcaggagCgtggcgactggcctggcgag	8	7	15	11	3	0	1	0	1	0	0	1	4	1	2	3	4	2	1	3	4	1	1			TCGA-J9-A8CP-01A-11D-A34U-08	TCGA-J9-A8CP-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6fc7ff0-f510-4b66-b422-4e9a5c0552d6	38604397-3014-4f48-9b92-dbdb45f28a33	g.chr17:73487841C>T	ENST00000314256.7	+	14	1850	c.1456C>T	c.(1456-1458)Cgt>Tgt	p.R486C	KIAA0195_ENST00000375248.5_Missense_Mutation_p.R496C|KIAA0195_ENST00000579208.1_Missense_Mutation_p.R137C	NM_014738.4	NP_055553.3	Q12767	K0195_HUMAN	KIAA0195	486						integral component of membrane (GO:0016021)|nucleus (GO:0005634)				breast(2)|endometrium(5)|kidney(2)|large_intestine(7)|lung(17)|ovary(5)|skin(2)|stomach(1)|urinary_tract(1)	42	all_cancers(13;3.15e-09)|all_epithelial(9;5.94e-10)|Breast(9;1.85e-09)|all_lung(278;0.246)		all cancers(21;5.01e-07)|Epithelial(20;5e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			TGAGCAGGAGCGTGGCGACTG	0.617																																						ENST00000314256.7																			0				breast(2)|endometrium(5)|kidney(2)|large_intestine(7)|lung(17)|ovary(5)|skin(2)|stomach(1)|urinary_tract(1)	42						c.(1456-1458)Cgt>Tgt		KIAA0195							73	69	70					17																	73487841		2203	4300	6503	SO:0001583	missense	9772				ATP biosynthetic process|cation transport	integral to membrane	ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism	g.chr17:73487841C>T		CCDS32732.1	17q25.1	2012-03-01			ENSG00000177728	ENSG00000177728			28983	protein-coding gene	gene with protein product						8724849	Standard	NM_014738		Approved	TMEM94	uc002jnz.4	Q12767		ENST00000314256.7:c.1456C>T	17.37:g.73487841C>T	ENSP00000313885:p.Arg486Cys					KIAA0195_ENST00000375248.5_Missense_Mutation_p.R496C|KIAA0195_ENST00000579208.1_Missense_Mutation_p.R137C	p.R486C	NM_014738.4	NP_055553.3	Q12767	K0195_HUMAN	all cancers(21;5.01e-07)|Epithelial(20;5e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)		14	1850	+	all_cancers(13;3.15e-09)|all_epithelial(9;5.94e-10)|Breast(9;1.85e-09)|all_lung(278;0.246)		486					O75536|Q86XF1	Missense_Mutation	SNP	ENST00000314256.7	37	c.1456C>T	CCDS32732.1	.	.	.	.	.	.	.	.	.	.	C	11.25	1.584565	0.28268	.	.	ENSG00000177728	ENST00000314256;ENST00000375248	T;T	0.47869	0.83;0.83	5.69	3.52	0.40303	.	0.502893	0.21321	N	0.076478	T	0.30665	0.0772	N	0.22421	0.69	0.33932	D	0.642144	B;B;B	0.06786	0.0;0.001;0.001	B;B;B	0.04013	0.0;0.001;0.001	T	0.35450	-0.9788	10	0.56958	D	0.05	-1.4478	6.8104	0.23801	0.1947:0.6394:0.0:0.1659	.	496;496;486	B4DGC6;C9JL75;Q12767	.;.;K0195_HUMAN	C	486;496	ENSP00000313885:R486C;ENSP00000364397:R496C	ENSP00000313885:R486C	R	+	1	0	KIAA0195	70999436	1.000000	0.71417	0.875000	0.34327	0.844000	0.47949	1.283000	0.33237	1.424000	0.47217	0.561000	0.74099	CGT		0.617	KIAA0195-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447303.1	NM_014738		11	29	0	0	0	1	0	11	29					T	73487841	C	T	73487841	3	4	293	1	0	0	0	0	1	0	0	0	8160	768	27	1	1506	1	KIAA0195	17	73487841	Missense_Mutation	SNP	C	TCGA-J9-A8CP-01A-11D-A34U-08	13426114	73487841	7707369	33	14155											
LPHN1	22859	broad.mit.edu	37	chr19	14268133	14268133	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agaggttgatgcacaggttcTtgtggatggtgttgcggtcg	6	13	17	5	2	1	2	0	1	1	1	2	3	1	3	0	5	2	4	0	5	0	4			TCGA-J9-A8CP-01A-11D-A34U-08	TCGA-J9-A8CP-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6fc7ff0-f510-4b66-b422-4e9a5c0552d6	38604397-3014-4f48-9b92-dbdb45f28a33	g.chr19:14268133T>C	ENST00000340736.6	-	15	2987	c.2690A>G	c.(2689-2691)aAg>aGg	p.K897R	CTB-55O6.12_ENST00000588387.1_RNA|LPHN1_ENST00000361434.3_Missense_Mutation_p.K892R|CTB-55O6.12_ENST00000592086.1_RNA|CTB-55O6.12_ENST00000588658.1_RNA	NM_001008701.2	NP_001008701.1	O94910	LPHN1_HUMAN	latrophilin 1	897					calcium-mediated signaling using intracellular calcium source (GO:0035584)|G-protein coupled receptor signaling pathway (GO:0007186)|heterophilic cell-cell adhesion (GO:0007157)|neuropeptide signaling pathway (GO:0007218)|positive regulation of synapse maturation (GO:0090129)	axon (GO:0030424)|cell junction (GO:0030054)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)|synapse (GO:0045202)	carbohydrate binding (GO:0030246)|cell adhesion molecule binding (GO:0050839)|G-protein coupled receptor activity (GO:0004930)|latrotoxin receptor activity (GO:0016524)			central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						GCACAGGTTCTTGTGGATGGT	0.597																																						ENST00000340736.6																			0				central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(2689-2691)aAg>aGg		latrophilin 1							164	151	155					19																	14268133		2203	4300	6503	SO:0001583	missense	22859				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding	g.chr19:14268133T>C	AB020628	CCDS12307.1, CCDS32928.1	19p13.2	2014-08-08				ENSG00000072071		"-", "GPCR / Class B : Orphans"	20973	protein-coding gene	gene with protein product						10994649	Standard	NM_014921		Approved	KIAA0821, CIRL1, LEC2	uc010xnn.2	O94910		ENST00000340736.6:c.2690A>G	19.37:g.14268133T>C	ENSP00000340688:p.Lys897Arg					CTB-55O6.12_ENST00000588387.1_RNA|CTB-55O6.12_ENST00000592086.1_RNA|LPHN1_ENST00000361434.3_Missense_Mutation_p.K892R	p.K897R	NM_001008701.2	NP_001008701.1	O94910	LPHN1_HUMAN			15	2987	-			897					Q96IE7|Q9BU07|Q9HAR3	Missense_Mutation	SNP	ENST00000340736.6	37	c.2690A>G	CCDS32928.1	.	.	.	.	.	.	.	.	.	.	T	19.46	3.831158	0.71258	.	.	ENSG00000072071	ENST00000340736;ENST00000361434	T;T	0.36878	1.23;1.23	4.62	4.62	0.57501	GPCR, family 2-like (1);	0.000000	0.85682	D	0.000000	T	0.54255	0.1847	L	0.58669	1.825	0.50313	D	0.999863	D;D	0.89917	1.0;1.0	D;D	0.81914	0.986;0.995	T	0.57516	-0.7798	10	0.72032	D	0.01	.	12.2761	0.54735	0.0:0.0:0.0:1.0	.	892;897	O94910-2;O94910	.;LPHN1_HUMAN	R	897;892	ENSP00000340688:K897R;ENSP00000355328:K892R	ENSP00000340688:K897R	K	-	2	0	LPHN1	14129133	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.154000	0.71826	1.837000	0.53436	0.402000	0.26972	AAG		0.597	LPHN1-001	KNOWN	overlapping_uORF|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000459696.1	NM_014921		30	92	0	0	0	1	0	30	92					C	14268133	T	C	14268133	3	2	293	1	0	0	0	0	1	0	0	0	8915	1609	56	4	1774	4	LPHN1	19	14268133	Missense_Mutation	SNP	T	TCGA-J9-A8CP-01A-11D-A34U-08		14268133	44860850	34	14156											
FLT3LG	2323	broad.mit.edu	37	chr19	49979782	49979782	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcaaggcttgctggagcgcGtgaacacggagatacacttt	10	9	13	9	3	0	2	0	1	0	1	0	4	0	3	0	3	5	3	0	3	3	3			TCGA-J9-A8CP-01A-11D-A34U-08	TCGA-J9-A8CP-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6fc7ff0-f510-4b66-b422-4e9a5c0552d6	38604397-3014-4f48-9b92-dbdb45f28a33	g.chr19:49979782G>A	ENST00000594009.1	+	4	380	c.301G>A	c.(301-303)Gtg>Atg	p.V101M	FLT3LG_ENST00000600429.1_Missense_Mutation_p.V101M|FLT3LG_ENST00000596435.1_Missense_Mutation_p.V101M|CTD-3148I10.15_ENST00000595815.1_RNA|FLT3LG_ENST00000344019.3_Missense_Mutation_p.V101M|FLT3LG_ENST00000595510.1_Missense_Mutation_p.V19M|FLT3LG_ENST00000597551.1_Missense_Mutation_p.V101M|FLT3LG_ENST00000204637.2_Missense_Mutation_p.V19M|CTD-3148I10.9_ENST00000599536.1_Intron	NM_001204503.1	NP_001191432.1	P49771	FLT3L_HUMAN	fms-related tyrosine kinase 3 ligand	101					embryonic hemopoiesis (GO:0035162)|lymphocyte differentiation (GO:0030098)|positive regulation of cell proliferation (GO:0008284)|positive regulation of natural killer cell differentiation (GO:0032825)|positive regulation of protein phosphorylation (GO:0001934)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|intrinsic component of external side of plasma membrane (GO:0031233)|membrane (GO:0016020)	receptor binding (GO:0005102)			large_intestine(2)|lung(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	10		all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00154)|GBM - Glioblastoma multiforme(486;0.0246)		GCTGGAGCGCGTGAACACGGA	0.587											OREG0025623	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000595510.1																			0				large_intestine(2)|lung(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	10						c.(55-57)Gtg>Atg		fms-related tyrosine kinase 3 ligand							86	75	79					19																	49979782		2203	4300	6503	SO:0001583	missense	0				positive regulation of cell proliferation|signal transduction	extracellular space|integral to membrane|plasma membrane|soluble fraction	cytokine activity	g.chr19:49979782G>A	U04806	CCDS12767.1, CCDS62753.1	19q13.3	2014-01-30				ENSG00000090554		"Endogenous ligands"	3766	protein-coding gene	gene with protein product		600007				8145851, 7824267	Standard	NM_001204502		Approved		uc010yau.2	P49771		ENST00000594009.1:c.301G>A	19.37:g.49979782G>A	ENSP00000469613:p.Val101Met		OREG0025623	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	966	FLT3LG_ENST00000594009.1_Missense_Mutation_p.V101M|FLT3LG_ENST00000600429.1_Missense_Mutation_p.V101M|FLT3LG_ENST00000597551.1_Missense_Mutation_p.V101M|CTD-3148I10.9_ENST00000599536.1_Intron|FLT3LG_ENST00000595815.1_3'UTR|FLT3LG_ENST00000204637.2_Missense_Mutation_p.V19M|FLT3LG_ENST00000596435.1_Missense_Mutation_p.V101M|FLT3LG_ENST00000344019.3_Missense_Mutation_p.V101M	p.V19M			P49771	FLT3L_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00154)|GBM - Glioblastoma multiforme(486;0.0246)	4	356	+		all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392)	101					A0AVC2|B9EGH2|Q05C96	Missense_Mutation	SNP	ENST00000594009.1	37	c.55G>A	CCDS12767.1	.	.	.	.	.	.	.	.	.	.	G	16.06	3.016982	0.54576	.	.	ENSG00000090554	ENST00000204637;ENST00000344019	.	.	.	4.3	4.3	0.51218	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	0.491543	0.21114	N	0.079922	T	0.55257	0.1909	L	0.34521	1.04	0.29851	N	0.828467	D	0.89917	1.0	D	0.97110	1.0	T	0.50558	-0.8814	9	0.36615	T	0.2	-9.9811	12.4158	0.55492	0.0:0.0:1.0:0.0	.	101	P49771	FLT3L_HUMAN	M	101	.	ENSP00000204637:V101M	V	+	1	0	FLT3LG	54671594	0.998000	0.40836	0.458000	0.27068	0.493000	0.33554	4.397000	0.59690	2.367000	0.80283	0.549000	0.68633	GTG		0.587	FLT3LG-007	KNOWN	alternative_3_UTR|alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465305.1			3	49	0	0	0	1	0	3	49					A	49979782	G	A	49979782	3	1	293	1	0	0	0	0	1	0	0	0	5943	1145	40	1	315	1	FLT3LG	19	49979782	Missense_Mutation	SNP	G	TCGA-J9-A8CP-01A-11D-A34U-08	35711649	49979782	9149201	35	14157											
ITCH	83737	broad.mit.edu	37	chr20	33068460	33068460	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tctttaccattctataagcgTatcttgaacaaaccagttgg	12	14	6	9	1	3	1	0	1	3	0	3	1	3	1	2	1	4	2	2	1	6	8			TCGA-J9-A8CP-01A-11D-A34U-08	TCGA-J9-A8CP-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6fc7ff0-f510-4b66-b422-4e9a5c0552d6	38604397-3014-4f48-9b92-dbdb45f28a33	g.chr20:33068460T>A	ENST00000262650.6	+	20	2134	c.1998T>A	c.(1996-1998)cgT>cgA	p.R666R	ITCH_ENST00000374864.4_Silent_p.R625R|ITCH_ENST00000535650.1_Silent_p.R515R|ITCH_ENST00000483727.1_3'UTR			Q96J02	ITCH_HUMAN	itchy E3 ubiquitin protein ligase	666	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				apoptotic process (GO:0006915)|defense response to virus (GO:0051607)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|negative regulation of apoptotic process (GO:0043066)|negative regulation of defense response to virus (GO:0050687)|negative regulation of JNK cascade (GO:0046329)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of type I interferon production (GO:0032480)|Notch signaling pathway (GO:0007219)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|protein K29-linked ubiquitination (GO:0035519)|protein K48-linked ubiquitination (GO:0070936)|protein K63-linked ubiquitination (GO:0070534)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of cell growth (GO:0001558)|regulation of protein deubiquitination (GO:0090085)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral entry into host cell (GO:0046718)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	CXCR chemokine receptor binding (GO:0045236)|ligase activity (GO:0016874)|ribonucleoprotein complex binding (GO:0043021)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(9)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(13)|skin(1)|upper_aerodigestive_tract(1)	36						TCTATAAGCGTATCTTGAACA	0.338																																						ENST00000374864.4																			0				NS(1)|breast(9)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(13)|skin(1)|upper_aerodigestive_tract(1)	36						c.(1873-1875)cgT>cgA		itchy E3 ubiquitin protein ligase							100	104	103					20																	33068460		2202	4300	6502	SO:0001819	synonymous_variant	83737				apoptosis|entry of virus into host cell|inflammatory response|innate immune response|negative regulation of apoptosis|negative regulation of defense response to virus|negative regulation of JNK cascade|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|protein K29-linked ubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of cell growth|regulation of protein deubiquitination|response to virus	cytosol|nucleus|plasma membrane	CXCR chemokine receptor binding|ribonucleoprotein binding|ubiquitin-protein ligase activity	g.chr20:33068460T>A	AF095745	CCDS13234.1, CCDS58768.1, CCDS58769.1	20q11.22	2014-09-17	2012-02-23		ENSG00000078747	ENSG00000078747			13890	protein-coding gene	gene with protein product		606409	"itchy (mouse homolog) E3 ubiquitin protein ligase", "itchy E3 ubiquitin protein ligase homolog (mouse)"			11318614	Standard	NM_001257137		Approved	AIP4	uc010geu.2	Q96J02	OTTHUMG00000032300	ENST00000262650.6:c.1998T>A	20.37:g.33068460T>A						ITCH_ENST00000535650.1_Silent_p.R515R|ITCH_ENST00000262650.6_Silent_p.R666R|ITCH_ENST00000483727.1_3'UTR	p.R625R	NM_001257137.1|NM_001257138.1|NM_031483.5	NP_001244066.1|NP_001244067.1|NP_113671.3	Q96J02	ITCH_HUMAN			19	2088	+			666			HECT.		A6NEW4|B4E234|E1P5P3|F5H217|O43584|Q5QP37|Q5TEL0|Q96F66|Q9BY75|Q9H451|Q9H4U5	Silent	SNP	ENST00000262650.6	37	c.1875T>A	CCDS58768.1																																																																																				0.338	ITCH-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000078783.2			48	119	0	0	0	1	0	48	119					A	33068460	T	A	33068460	2	1	293	1	0	0	0	0	0	0	0	1	7868	1625	57	5		5	ITCH	20	33068460	Silent	SNP	T	TCGA-J9-A8CP-01A-11D-A34U-08		33068460	29957060	36	14158											
THOC5	8563	broad.mit.edu	37	chr22	29924168	29924168	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgtgggtctccggcgcttcTggacaaaggaaagtgccaag	9	8	15	9	2	2	0	0	0	2	0	3	2	2	2	2	4	1	1	2	4	3	1			TCGA-J9-A8CP-01A-11D-A34U-08	TCGA-J9-A8CP-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6fc7ff0-f510-4b66-b422-4e9a5c0552d6	38604397-3014-4f48-9b92-dbdb45f28a33	g.chr22:29924168T>C	ENST00000490103.1	-	11	1089		c.e11-2		THOC5_ENST00000397871.1_Splice_Site|THOC5_ENST00000397872.1_Splice_Site|THOC5_ENST00000397873.2_Splice_Site|CTA-256D12.11_ENST00000411969.1_RNA	NM_003678.4	NP_003669.4	Q13769	THOC5_HUMAN	THO complex 5						blastocyst development (GO:0001824)|cell morphogenesis (GO:0000902)|monocyte differentiation (GO:0030224)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|negative regulation of DNA damage checkpoint (GO:2000002)|negative regulation of macrophage differentiation (GO:0045650)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|primitive hemopoiesis (GO:0060215)|regulation of mRNA export from nucleus (GO:0010793)|regulation of stem cell division (GO:2000035)|RNA splicing (GO:0008380)|stem cell division (GO:0017145)|viral mRNA export from host cell nucleus (GO:0046784)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|THO complex (GO:0000347)|THO complex part of transcription export complex (GO:0000445)|transcription export complex (GO:0000346)	mRNA binding (GO:0003729)			NS(1)|breast(4)|cervix(1)|endometrium(2)|large_intestine(4)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						CCGGCGCTTCTGGACAAAGGA	0.572																																						ENST00000490103.1																			0				NS(1)|breast(4)|cervix(1)|endometrium(2)|large_intestine(4)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.e11-2		THO complex 5							79	73	75					22																	29924168		2203	4300	6503	SO:0001630	splice_region_variant	8563				intronless viral mRNA export from host nucleus|monocyte differentiation|mRNA processing|primitive hemopoiesis|RNA splicing	cytoplasm|intermediate filament cytoskeleton|THO complex part of transcription export complex	protein binding|RNA binding	g.chr22:29924168T>C	AB023200	CCDS13859.1	22q12	2013-02-11			ENSG00000100296	ENSG00000100296		"THO complex subunits"	19074	protein-coding gene	gene with protein product	"functional spliceosome-associated protein 79"	612733	"chromosome 22 open reading frame 19"	C22orf19		11979277, 8242058, 10231032, 19015024, 18373705	Standard	NM_003678		Approved	PK1.3, KIAA0983, Fmip, fSAP79	uc003afs.3	Q13769	OTTHUMG00000151291	ENST00000490103.1:c.967-2A>G	22.37:g.29924168T>C						CTA-256D12.11_ENST00000411969.1_RNA|THOC5_ENST00000397871.1_Splice_Site|THOC5_ENST00000397872.1_Splice_Site|THOC5_ENST00000397873.2_Splice_Site		NM_003678.4	NP_003669.4	Q13769	THOC5_HUMAN			11	1089	-								O60839|Q9UPZ5	Splice_Site	SNP	ENST00000490103.1	37		CCDS13859.1	.	.	.	.	.	.	.	.	.	.	T	19.45	3.830526	0.71258	.	.	ENSG00000100296	ENST00000490103;ENST00000397872;ENST00000397871;ENST00000397873;ENST00000443089	.	.	.	4.71	4.71	0.59529	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.3948	0.67003	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	THOC5	28254168	1.000000	0.71417	1.000000	0.80357	0.810000	0.45777	7.040000	0.76551	1.986000	0.57962	0.451000	0.29950	.		0.572	THOC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322097.1	NM_003678	Intron	23	44	0	0	0	1	0	23	44					C	29924168	T	C	29924168	5	2	293	1	0	0	0	0	0	0	1	0	15865	1594	55	4	1126	4	THOC5	22	29924168	Splice_Site	SNP	T	TCGA-J9-A8CP-01A-11D-A34U-08		29924168	21380398	37	14159											
PLXNB2	23654	broad.mit.edu	37	chr22	50720454	50720454	+	Silent	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tctggctcctcaggcacagcCggggacaggaagacgacctt	9	6	13	13	2	2	1	1	0	1	1	3	4	3	3	3	5	1	2	3	5	1	1			TCGA-J9-A8CP-01A-11D-A34U-08	TCGA-J9-A8CP-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6fc7ff0-f510-4b66-b422-4e9a5c0552d6	38604397-3014-4f48-9b92-dbdb45f28a33	g.chr22:50720454C>G	ENST00000449103.1	-	20	3314	c.3174G>C	c.(3172-3174)ccG>ccC	p.P1058P	PLXNB2_ENST00000359337.4_Silent_p.P1058P|PLXNB2_ENST00000496720.1_5'Flank			O15031	PLXB2_HUMAN	plexin B2	1058	IPT/TIG 3.				brain development (GO:0007420)|neural tube closure (GO:0001843)|neuroblast proliferation (GO:0007405)|positive regulation of axonogenesis (GO:0050772)|regulation of cell shape (GO:0008360)|regulation of neuron migration (GO:2001222)|regulation of protein phosphorylation (GO:0001932)|regulation of Rho GTPase activity (GO:0032319)|semaphorin-plexin signaling pathway (GO:0071526)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)	GTPase activator activity (GO:0005096)|semaphorin receptor activity (GO:0017154)			breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	66		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		CAGGCACAGCCGGGGACAGGA	0.647																																						ENST00000449103.1																			0				breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	66						c.(3172-3174)ccG>ccC		plexin B2							48	55	53					22																	50720454		2117	4227	6344	SO:0001819	synonymous_variant	23654				regulation of small GTPase mediated signal transduction	integral to membrane|intracellular	GTPase activator activity|protein binding|receptor activity	g.chr22:50720454C>G		CCDS43035.1	22q13.33	2008-06-12			ENSG00000196576	ENSG00000196576		"Plexins"	9104	protein-coding gene	gene with protein product		604293				10520995, 12183458	Standard	NM_012401		Approved	MM1, KIAA0315, PLEXB2	uc003bkv.4	O15031	OTTHUMG00000150219	ENST00000449103.1:c.3174G>C	22.37:g.50720454C>G						PLXNB2_ENST00000359337.4_Silent_p.P1058P	p.P1058P			O15031	PLXB2_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)	20	3314	-		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)	1058			IPT/TIG 3.		A6QRH0|Q7KZU3|Q9BSU7	Silent	SNP	ENST00000449103.1	37	c.3174G>C	CCDS43035.1	.	.	.	.	.	.	.	.	.	.	C	1.959	-0.439244	0.04636	.	.	ENSG00000196576	ENST00000427829	.	.	.	4.63	-0.817	0.10836	.	.	.	.	.	T	0.19127	0.0459	.	.	.	0.22199	N	0.99929	.	.	.	.	.	.	T	0.23940	-1.0174	4	.	.	.	.	1.1284	0.01740	0.2962:0.2121:0.3418:0.1499	.	.	.	.	P	76	.	.	R	-	2	0	PLXNB2	49062581	0.068000	0.21057	0.994000	0.49952	0.225000	0.24961	-0.493000	0.06459	0.121000	0.18284	0.313000	0.20887	CGG		0.647	PLXNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316874.3	NM_012401		13	26	0	0	0	1	0	13	26					G	50720454	C	G	50720454	2	3	293	1	0	0	0	0	0	0	0	1	12124	639	23	5		5	PLXNB2	22	50720454	Silent	SNP	C	TCGA-J9-A8CP-01A-11D-A34U-08	20796286	50720454	584112	38	14160											
AADACL4	343066	broad.mit.edu	37	chr1	12726318	12726318	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgacctctcctggcgtgacGccatcttgaacggcacttgt	6	12	10	13	3	2	3	0	3	2	0	3	3	2	3	3	2	1	1	3	2	1	3	rs139261871		TCGA-KC-A4BL-01A-31D-A257-08	TCGA-KC-A4BL-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6a47f6-a38c-4f94-bac9-81fb034fb62d	6e7ac799-87c3-4d22-bad2-57f73e88124f	g.chr1:12726318G>A	ENST00000376221.1	+	4	796	c.796G>A	c.(796-798)Gcc>Acc	p.A266T		NM_001013630.1	NP_001013652.1	Q5VUY2	ADCL4_HUMAN	arylacetamide deacetylase-like 4	266						integral component of membrane (GO:0016021)	carboxylic ester hydrolase activity (GO:0052689)	p.A266T(2)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)	17	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.000937)|all_lung(284;0.00122)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.81e-07)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0384)		CTGGCGTGACGCCATCTTGAA	0.502													G|||	1	0.000199681	0	0	5008	,	,		19682	0		0.001	False		,,,				2504	0					ENST00000376221.1																			2	Substitution - Missense(2)	p.A266T(2)	large_intestine(2)	breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)	17						c.(796-798)Gcc>Acc		arylacetamide deacetylase-like 4		G	THR/ALA	0,4406		0,0,2203	137	134	135		796	2.4	0	1	dbSNP_134	135	1,8599	1.2+/-3.3	0,1,4299	no	missense	AADACL4	NM_001013630.1	58	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	266/408	12726318	1,13005	2203	4300	6503	SO:0001583	missense	343066					integral to membrane	carboxylesterase activity	g.chr1:12726318G>A		CCDS30590.1	1p36.21	2010-12-14			ENSG00000204518	ENSG00000204518			32038	protein-coding gene	gene with protein product							Standard	XM_006710608		Approved	OTTHUMG00000001889	uc001auf.3	Q5VUY2	OTTHUMG00000001889	ENST00000376221.1:c.796G>A	1.37:g.12726318G>A	ENSP00000365395:p.Ala266Thr						p.A266T	NM_001013630.1	NP_001013652.1	Q5VUY2	ADCL4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.81e-07)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0384)	4	796	+	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.000937)|all_lung(284;0.00122)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)	266						Missense_Mutation	SNP	ENST00000376221.1	37	c.796G>A	CCDS30590.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	11.05	1.524004	0.27299	0.0	1.16E-4	ENSG00000204518	ENST00000376221	T	0.59083	0.29	4.38	2.44	0.29823	.	0.382752	0.24561	N	0.037470	T	0.38268	0.1034	L	0.31294	0.92	0.09310	N	1	B	0.32731	0.382	B	0.28139	0.086	T	0.16541	-1.0399	10	0.32370	T	0.25	-20.033	7.5085	0.27560	0.1645:0.1364:0.6991:0.0	.	266	Q5VUY2	ADCL4_HUMAN	T	266	ENSP00000365395:A266T	ENSP00000365395:A266T	A	+	1	0	AADACL4	12648905	0.000000	0.05858	0.006000	0.13384	0.002000	0.02628	-0.356000	0.07661	1.034000	0.39945	0.655000	0.94253	GCC		0.502	AADACL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005328.1	NM_001013630		9	189	0	0	0	0.004482	0	9	189					A	12726318	G	A	12726318	3	1	294	1	0	0	0	0	1	0	0	0	13	1087	38	1	810	1	AADACL4	1	12726318	Missense_Mutation	SNP	G	TCGA-KC-A4BL-01A-31D-A257-08		12726318	236524303	1	14161											
ZBTB40	9923	broad.mit.edu	37	chr1	22828886	22828886	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagctgagacctattatggaGtccctggaaacagccaagga	13	7	11	10	0	0	1	0	1	0	1	1	5	1	4	3	3	3	1	3	3	4	2			TCGA-KC-A4BL-01A-31D-A257-08	TCGA-KC-A4BL-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6a47f6-a38c-4f94-bac9-81fb034fb62d	6e7ac799-87c3-4d22-bad2-57f73e88124f	g.chr1:22828886G>T	ENST00000375647.4	+	5	1326	c.1119G>T	c.(1117-1119)gaG>gaT	p.E373D	ZBTB40_ENST00000374651.4_Intron|ZBTB40_ENST00000404138.1_Missense_Mutation_p.E373D	NM_014870.3	NP_055685.3	Q9NUA8	ZBT40_HUMAN	zinc finger and BTB domain containing 40	373					bone mineralization (GO:0030282)|cellular response to DNA damage stimulus (GO:0006974)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(4)|kidney(4)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.86e-26)|Colorectal(126;8.55e-08)|COAD - Colon adenocarcinoma(152;4.1e-06)|GBM - Glioblastoma multiforme(114;1.39e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000712)|KIRC - Kidney renal clear cell carcinoma(1967;0.00374)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.216)		CTATTATGGAGTCCCTGGAAA	0.473																																						ENST00000404138.1																			0				endometrium(4)|kidney(4)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26						c.(1117-1119)gaG>gaT		zinc finger and BTB domain containing 40							116	104	108					1																	22828886		2203	4300	6503	SO:0001583	missense	9923				bone mineralization|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:22828886G>T	AB007947	CCDS224.1	1p36	2013-01-08			ENSG00000184677	ENSG00000184677		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	29045	protein-coding gene	gene with protein product		612106					Standard	NM_014870		Approved	KIAA0478, ZNF923	uc001bfu.2	Q9NUA8	OTTHUMG00000002897	ENST00000375647.4:c.1119G>T	1.37:g.22828886G>T	ENSP00000364798:p.Glu373Asp					ZBTB40_ENST00000374651.4_Intron|ZBTB40_ENST00000375647.4_Missense_Mutation_p.E373D	p.E373D	NM_001083621.1	NP_001077090.1	Q9NUA8	ZBT40_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.86e-26)|Colorectal(126;8.55e-08)|COAD - Colon adenocarcinoma(152;4.1e-06)|GBM - Glioblastoma multiforme(114;1.39e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000712)|KIRC - Kidney renal clear cell carcinoma(1967;0.00374)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.216)	6	1630	+		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)	373					O75066|Q5TFU5|Q8N1R1	Missense_Mutation	SNP	ENST00000375647.4	37	c.1119G>T	CCDS224.1	.	.	.	.	.	.	.	.	.	.	G	17.68	3.449938	0.63290	.	.	ENSG00000184677	ENST00000404138;ENST00000375647;ENST00000400239	T;T;T	0.45276	2.37;2.37;0.9	5.8	4.88	0.63580	.	0.000000	0.52532	D	0.000064	T	0.53642	0.1809	L	0.36672	1.1	0.80722	D	1	D	0.76494	0.999	D	0.78314	0.991	T	0.54754	-0.8246	10	0.87932	D	0	-23.5839	13.9187	0.63916	0.0746:0.0:0.9254:0.0	.	373	Q9NUA8	ZBT40_HUMAN	D	373	ENSP00000384527:E373D;ENSP00000364798:E373D;ENSP00000383098:E373D	ENSP00000364798:E373D	E	+	3	2	ZBTB40	22701473	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	2.363000	0.44178	2.758000	0.94735	0.561000	0.74099	GAG		0.473	ZBTB40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008094.1	NM_014870		6	122	1	0	0.00116845	0.021553	0.00130072	6	122					T	22828886	G	T	22828886	3	4	294	1	0	0	0	0	1	0	0	0	17539	1020	36	5	1133	5	ZBTB40	1	22828886	Missense_Mutation	SNP	G	TCGA-KC-A4BL-01A-31D-A257-08	10102568	22828886	226421735	2	14162											
ARID1A	8289	broad.mit.edu	37	chr1	27105656	27105656	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gttcagcaaggtgtctagtcCagctcccatggagggtgggg	7	9	16	9	0	2	0	1	0	1	0	4	1	4	1	2	5	2	3	2	5	2	2			TCGA-KC-A4BL-01A-31D-A257-08	TCGA-KC-A4BL-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6a47f6-a38c-4f94-bac9-81fb034fb62d	6e7ac799-87c3-4d22-bad2-57f73e88124f	g.chr1:27105656C>G	ENST00000324856.7	+	20	5638	c.5267C>G	c.(5266-5268)cCa>cGa	p.P1756R	ARID1A_ENST00000540690.1_Missense_Mutation_p.P84R|ARID1A_ENST00000374152.2_Missense_Mutation_p.P1373R|ARID1A_ENST00000457599.2_Missense_Mutation_p.P1539R	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	1756					androgen receptor signaling pathway (GO:0030521)|ATP-dependent chromatin remodeling (GO:0043044)|cardiac chamber development (GO:0003205)|chromatin remodeling (GO:0006338)|chromatin-mediated maintenance of transcription (GO:0048096)|forebrain development (GO:0030900)|glucocorticoid receptor signaling pathway (GO:0042921)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|nucleosome disassembly (GO:0006337)|nucleosome mobilization (GO:0042766)|optic cup formation involved in camera-type eye development (GO:0003408)|placenta blood vessel development (GO:0060674)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|transcription coactivator activity (GO:0003713)		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		GTGTCTAGTCCAGCTCCCATG	0.478			"Mis, N, F, S, D"		"clear cell ovarian carcinoma, RCC"																																	ENST00000324856.7				Rec	yes		1	1p35.3	8289	"Mis, N, F, S, D"	AT rich interactive domain 1A (SWI-like)			E			"clear cell ovarian carcinoma, RCC"	ARID1A/MAST2_ENST00000361297(2)	0				NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411						c.(5266-5268)cCa>cGa		AT rich interactive domain 1A (SWI-like)							78	81	80					1																	27105656		2203	4300	6503	SO:0001583	missense	8289				androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding	g.chr1:27105656C>G	AB001895	CCDS285.1, CCDS44091.1	1p36.1-p35	2014-09-17	2006-11-08	2004-01-30	ENSG00000117713	ENSG00000117713		"-"	11110	protein-coding gene	gene with protein product		603024	"SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily f, member 1", "AT rich interactive domain 1A (SWI- like)"	C1orf4, SMARCF1		9630625, 9434167	Standard	NM_139135		Approved	B120, P270, C10rf4, BAF250, BAF250a	uc001bmv.1	O14497	OTTHUMG00000004004	ENST00000324856.7:c.5267C>G	1.37:g.27105656C>G	ENSP00000320485:p.Pro1756Arg					ARID1A_ENST00000540690.1_Missense_Mutation_p.P84R|ARID1A_ENST00000374152.2_Missense_Mutation_p.P1373R|ARID1A_ENST00000457599.2_Missense_Mutation_p.P1539R	p.P1756R	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)	20	5638	+		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	1756					D3DPL1|Q53FK9|Q5T0W1|Q5T0W2|Q5T0W3|Q8NFD6|Q96T89|Q9BY33|Q9HBJ5|Q9UPZ1	Missense_Mutation	SNP	ENST00000324856.7	37	c.5267C>G	CCDS285.1	.	.	.	.	.	.	.	.	.	.	C	14.71	2.615857	0.46631	.	.	ENSG00000117713	ENST00000324856;ENST00000457599;ENST00000374152;ENST00000540690	T;T;T;T	0.09350	4.55;4.36;4.36;2.99	5.06	5.06	0.68205	.	0.537042	0.22395	N	0.060625	T	0.10208	0.0250	L	0.29908	0.895	0.38198	D	0.940111	P;P;P	0.49090	0.706;0.851;0.919	B;B;B	0.41619	0.225;0.191;0.361	T	0.32955	-0.9887	10	0.16420	T	0.52	-5.4959	18.9709	0.92715	0.0:1.0:0.0:0.0	.	1373;1756;1539	O14497-3;O14497;O14497-2	.;ARI1A_HUMAN;.	R	1756;1539;1373;84	ENSP00000320485:P1756R;ENSP00000387636:P1539R;ENSP00000363267:P1373R;ENSP00000442437:P84R	ENSP00000320485:P1756R	P	+	2	0	ARID1A	26978243	0.995000	0.38212	1.000000	0.80357	0.910000	0.53928	3.346000	0.52190	2.791000	0.96007	0.591000	0.81541	CCA		0.478	ARID1A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000011437.2	NM_139135		11	134	0	0	0	0.008291	0	11	134					G	27105656	C	G	27105656	3	3	294	1	0	0	0	0	1	0	0	0	913	594	21	5	5345	5	ARID1A	1	27105656	Missense_Mutation	SNP	C	TCGA-KC-A4BL-01A-31D-A257-08	4276770	27105656	222144965	3	14163											
ABCA4	24	broad.mit.edu	37	chr1	94497574	94497574	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caggggtgtcgggggttgacGttttctcttttctgctgagc	3	15	15	8	2	2	2	0	2	2	0	4	2	2	2	0	4	2	3	0	4	0	5	rs534365589		TCGA-KC-A4BL-01A-31D-A257-08	TCGA-KC-A4BL-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6a47f6-a38c-4f94-bac9-81fb034fb62d	6e7ac799-87c3-4d22-bad2-57f73e88124f	g.chr1:94497574G>A	ENST00000370225.3	-	27	3974	c.3888C>T	c.(3886-3888)aaC>aaT	p.N1296N		NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	1296					phospholipid transfer to membrane (GO:0006649)|photoreceptor cell maintenance (GO:0045494)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|photoreceptor disc membrane (GO:0097381)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|phospholipid-translocating ATPase activity (GO:0004012)|transporter activity (GO:0005215)			NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		GGGGGTTGACGTTTTCTCTTT	0.512																																						ENST00000370225.3																			0				NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147						c.(3886-3888)aaC>aaT		ATP-binding cassette, sub-family A (ABC1), member 4							61	68	66					1																	94497574		2203	4299	6502	SO:0001819	synonymous_variant	24				phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr1:94497574G>A	U88667	CCDS747.1	1p22	2013-01-23			ENSG00000198691	ENSG00000198691		"ATP binding cassette transporters / subfamily A"	34	protein-coding gene	gene with protein product	"Stargardt disease"	601691	"ATP-binding cassette transporter, retinal-specific"	STGD1, ABCR, RP19, STGD		9490294	Standard	NM_000350		Approved	FFM, ARMD2, CORD3	uc001dqh.3	P78363	OTTHUMG00000010622	ENST00000370225.3:c.3888C>T	1.37:g.94497574G>A							p.N1296N	NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)	27	3974	-		all_lung(203;0.000757)|Lung NSC(277;0.00335)	1296					O15112|O60438|O60915|Q0QD48|Q4LE31	Silent	SNP	ENST00000370225.3	37	c.3888C>T	CCDS747.1																																																																																				0.512	ABCA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029320.1	NM_000350		5	170	0	0	0	0.001984	0	5	170					A	94497574	G	A	94497574	2	1	294	1	0	0	0	0	0	0	0	1	34	1136	40	1		1	ABCA4	1	94497574	Silent	SNP	G	TCGA-KC-A4BL-01A-31D-A257-08	67391918	94497574	154753047	4	14164											
NBPF10	100132406	broad.mit.edu	37	chr1	145302833	145302833	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acagctggctgaggggtgtaGactggcacagcaccttgtcc	8	8	14	11	0	0	2	0	1	0	1	1	2	1	2	2	4	2	5	2	4	1	2			TCGA-KC-A4BL-01A-31D-A257-08	TCGA-KC-A4BL-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6a47f6-a38c-4f94-bac9-81fb034fb62d	6e7ac799-87c3-4d22-bad2-57f73e88124f	g.chr1:145302833G>T	ENST00000369339.3	+	5	711	c.458G>T	c.(457-459)aGa>aTa	p.R153I	RP11-458D21.5_ENST00000468030.1_3'UTR|NBPF10_ENST00000342960.5_Missense_Mutation_p.R424I|NBPF10_ENST00000369338.1_Missense_Mutation_p.R153I			Q6P3W6	NBPFA_HUMAN	neuroblastoma breakpoint family, member 10	424						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		GAGGGGTGTAGACTGGCACAG	0.572																																						ENST00000342960.5																			0				NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73						c.(1270-1272)aGa>aTa		neuroblastoma breakpoint family, member 10																																				SO:0001583	missense	100132406							g.chr1:145302833G>T	BC021111		1q21.1	2013-01-17			ENSG00000163386	ENSG00000271425		"neuroblastoma breakpoint family"	31992	protein-coding gene	gene with protein product		614000				16079250	Standard	NM_001039703		Approved	AG1		Q6P3W6	OTTHUMG00000013757	ENST00000369339.3:c.458G>T	1.37:g.145302833G>T	ENSP00000358345:p.Arg153Ile					NBPF10_ENST00000369338.1_Missense_Mutation_p.R153I|NBPF10_ENST00000369339.2_Missense_Mutation_p.R153I|RP11-458D21.5_ENST00000468030.1_3'UTR	p.R424I	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN		Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	8	1306	+	all_hematologic(923;0.032)		424					Q5RHC0|Q9NWN6	Missense_Mutation	SNP	ENST00000369339.3	37	c.1271G>T		.	.	.	.	.	.	.	.	.	.	.	12.19	1.862603	0.32884	.	.	ENSG00000163386	ENST00000448873;ENST00000369338;ENST00000369334;ENST00000342960	T;T	0.51071	0.72;3.87	0.712	0.712	0.18167	.	.	.	.	.	T	0.49287	0.1548	M	0.68593	2.085	0.09310	N	1	D	0.89917	1.0	D	0.91635	0.999	T	0.24048	-1.0171	8	0.62326	D	0.03	.	.	.	.	.	153	A8MQ30	.	I	349;153;153;424	ENSP00000358344:R153I;ENSP00000345684:R424I	ENSP00000345684:R424I	R	+	2	0	NBPF10	144014190	0.001000	0.12720	0.002000	0.10522	0.024000	0.10985	0.305000	0.19254	0.672000	0.31204	0.409000	0.27619	AGA		0.572	NBPF10-001	KNOWN	not_best_in_genome_evidence|basic	protein_coding	protein_coding	OTTHUMT00000038550.3	NM_001039703		5	249	1	0	0.00116845	0.021553	0.00130072	5	249					T	145302833	G	T	145302833	3	4	294	1	0	0	0	0	1	0	0	0	10193	942	33	5	1301	5	NBPF10	1	145302833	Missense_Mutation	SNP	G	TCGA-KC-A4BL-01A-31D-A257-08	50805259	145302833	103947788	5	14165											
NTRK1	4914	broad.mit.edu	37	chr1	156845394	156845394	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcagctccctgtcccccacCgagggcaaaggctctgggct	6	6	13	16	1	1	0	0	0	1	0	3	1	3	0	4	4	1	5	4	4	1	0			TCGA-KC-A4BL-01A-31D-A257-08	TCGA-KC-A4BL-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6a47f6-a38c-4f94-bac9-81fb034fb62d	6e7ac799-87c3-4d22-bad2-57f73e88124f	g.chr1:156845394C>T	ENST00000524377.1	+	12	1478	c.1437C>T	c.(1435-1437)acC>acT	p.T479T	NTRK1_ENST00000358660.3_Silent_p.T473T|NTRK1_ENST00000392302.2_Silent_p.T443T|NTRK1_ENST00000368196.3_Silent_p.T473T	NM_002529.3	NP_002520.2	P04629	NTRK1_HUMAN	neurotrophic tyrosine kinase, receptor, type 1	479	Interaction with SQSTM1. {ECO:0000250}.				activation of adenylate cyclase activity (GO:0007190)|activation of MAPKK activity (GO:0000186)|activation of phospholipase C activity (GO:0007202)|aging (GO:0007568)|axon guidance (GO:0007411)|axonogenesis involved in innervation (GO:0060385)|B cell differentiation (GO:0030183)|cellular response to nerve growth factor stimulus (GO:1990090)|cellular response to nicotine (GO:0071316)|circadian rhythm (GO:0007623)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|developmental programmed cell death (GO:0010623)|learning or memory (GO:0007611)|mechanoreceptor differentiation (GO:0042490)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|olfactory nerve development (GO:0021553)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of angiogenesis (GO:0045766)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron projection development (GO:0010976)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of programmed cell death (GO:0043068)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Ras protein signal transduction (GO:0046579)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|Ras protein signal transduction (GO:0007265)|response to activity (GO:0014823)|response to axon injury (GO:0048678)|response to drug (GO:0042493)|response to electrical stimulus (GO:0051602)|response to ethanol (GO:0045471)|response to hydrostatic pressure (GO:0051599)|response to nutrient levels (GO:0031667)|response to radiation (GO:0009314)|Sertoli cell development (GO:0060009)|small GTPase mediated signal transduction (GO:0007264)|sympathetic nervous system development (GO:0048485)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	axon (GO:0030424)|cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|early endosome (GO:0005769)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|nerve growth factor binding (GO:0048406)|nerve growth factor receptor activity (GO:0010465)|neurotrophin binding (GO:0043121)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(35)|ovary(8)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	74	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)				Amitriptyline(DB00321)|Imatinib(DB00619)|Regorafenib(DB08896)	TGTCCCCCACCGAGGGCAAAG	0.607			T	"TPM3, TPR, TFG"	papillary thyroid					TSP Lung(10;0.080)																												ENST00000368196.3				Dom	yes		1	1q21-q22	4914	T	"neurotrophic tyrosine kinase, receptor, type 1"			E	"TPM3, TPR, TFG"		papillary thyroid		0				breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(35)|ovary(8)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	74						c.(1417-1419)acC>acT		neurotrophic tyrosine kinase, receptor, type 1	Imatinib(DB00619)						84	74	77					1																	156845394		2203	4300	6503	SO:0001819	synonymous_variant	4914				activation of adenylate cyclase activity|activation of MAPKK activity|activation of phospholipase C activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development|phosphatidylinositol-mediated signaling|Ras protein signal transduction	endosome|integral to plasma membrane	ATP binding|neurotrophin receptor activity|transmembrane receptor protein serine/threonine kinase activity|transmembrane receptor protein tyrosine kinase activity	g.chr1:156845394C>T	Y09028	CCDS1161.1, CCDS30890.1, CCDS30891.1	1q21-q22	2014-09-17			ENSG00000198400	ENSG00000198400	2.7.10.1	"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	8031	protein-coding gene	gene with protein product	"high affinity nerve growth factor receptor"	191315				2869410	Standard	NM_001007792		Approved	TRK, TRKA, MTC	uc001fqh.1	P04629	OTTHUMG00000041304	ENST00000524377.1:c.1437C>T	1.37:g.156845394C>T		TSP Lung(10;0.080)				NTRK1_ENST00000392302.2_Silent_p.T443T|NTRK1_ENST00000524377.1_Silent_p.T479T|NTRK1_ENST00000358660.3_Silent_p.T473T	p.T473T	NM_001012331.1	NP_001012331.1	P04629	NTRK1_HUMAN			11	1539	+	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)		479			Interaction with SQSTM1 (By similarity).		B2R6T5|B7ZM34|P08119|Q15655|Q15656|Q5D056|Q5VZS2|Q7Z5C3|Q9UIU7	Silent	SNP	ENST00000524377.1	37	c.1419C>T	CCDS1161.1																																																																																				0.607	NTRK1-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000392279.1	NM_002529		6	97	0	0	0	0.021553	0	6	97					T	156845394	C	T	156845394	2	4	294	1	0	0	0	0	0	0	0	1	10706	639	23	2		2	NTRK1	1	156845394	Silent	SNP	C	TCGA-KC-A4BL-01A-31D-A257-08	11542561	156845394	92405227	6	14166											
EPRS	2058	broad.mit.edu	37	chr1	220213574	220213574	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccttcttcaacggaaatgctGacatcgtctttcacgtgttc	8	14	7	12	3	4	1	2	1	2	0	6	2	4	2	1	1	2	2	1	1	2	4			TCGA-KC-A4BL-01A-31D-A257-08	TCGA-KC-A4BL-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6a47f6-a38c-4f94-bac9-81fb034fb62d	6e7ac799-87c3-4d22-bad2-57f73e88124f	g.chr1:220213574G>A	ENST00000366923.3	-	2	353	c.84C>T	c.(82-84)gtC>gtT	p.V28V		NM_004446.2	NP_004437.2	P07814	SYEP_HUMAN	glutamyl-prolyl-tRNA synthetase	28					cellular response to interferon-gamma (GO:0071346)|gene expression (GO:0010467)|glutamyl-tRNA aminoacylation (GO:0006424)|negative regulation of translation (GO:0017148)|prolyl-tRNA aminoacylation (GO:0006433)|protein complex assembly (GO:0006461)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|GAIT complex (GO:0097452)|membrane (GO:0016020)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|glutamate-tRNA ligase activity (GO:0004818)|proline-tRNA ligase activity (GO:0004827)|RNA stem-loop binding (GO:0035613)			breast(2)|endometrium(11)|kidney(2)|large_intestine(13)|lung(24)|ovary(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(3)	63				GBM - Glioblastoma multiforme(131;0.0735)	L-Proline(DB00172)	CGGAAATGCTGACATCGTCTT	0.303																																						ENST00000366923.3																			0				breast(2)|endometrium(11)|kidney(2)|large_intestine(13)|lung(24)|ovary(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(3)	63						c.(82-84)gtC>gtT		glutamyl-prolyl-tRNA synthetase	L-Glutamic Acid(DB00142)|L-Proline(DB00172)						103	111	109					1																	220213574		2203	4300	6503	SO:0001819	synonymous_variant	2058				glutamyl-tRNA aminoacylation|prolyl-tRNA aminoacylation|protein complex assembly	cytosol|soluble fraction	ATP binding|glutamate-tRNA ligase activity|proline-tRNA ligase activity|protein binding|RNA binding	g.chr1:220213574G>A	X54326	CCDS31027.1	1q41	2011-07-01			ENSG00000136628	ENSG00000136628	6.1.1.15, 6.1.1.17	"Aminoacyl tRNA synthetases / Class I", "Aminoacyl tRNA synthetases / Class II"	3418	protein-coding gene	gene with protein product	"glutamate tRNA ligase", "proline tRNA ligase"	138295		QPRS, QARS		1988429	Standard	NM_004446		Approved	EARS, PARS, GLUPRORS	uc001hly.1	P07814	OTTHUMG00000037433	ENST00000366923.3:c.84C>T	1.37:g.220213574G>A							p.V28V	NM_004446.2	NP_004437.2	P07814	SYEP_HUMAN		GBM - Glioblastoma multiforme(131;0.0735)	2	353	-			28					A0AVA9|B9EGH3|Q05BP6|Q05DF8|Q5DSM1|Q5H9S5|Q6PD57|Q86X73	Silent	SNP	ENST00000366923.3	37	c.84C>T	CCDS31027.1																																																																																				0.303	EPRS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091133.2	NM_004446		7	150	0	0	0	0.004482	0	7	150					A	220213574	G	A	220213574	2	1	294	1	0	0	0	0	0	0	0	1	5191	1277	45	3		3	EPRS	1	220213574	Silent	SNP	G	TCGA-KC-A4BL-01A-31D-A257-08	63368180	220213574	29037047	7	14167											
TTN	7273	broad.mit.edu	37	chr2	179584977	179584977	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtgtcacttagctttttcaCgaatcgtggaggttctgatg	7	15	12	7	2	3	1	2	1	1	0	4	3	3	2	0	3	1	2	0	3	2	4	rs144032104		TCGA-KC-A4BL-01A-31D-A257-08	TCGA-KC-A4BL-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6a47f6-a38c-4f94-bac9-81fb034fb62d	6e7ac799-87c3-4d22-bad2-57f73e88124f	g.chr2:179584977C>T	ENST00000591111.1	-	79	22665	c.22441G>A	c.(22441-22443)Gtg>Atg	p.V7481M	TTN_ENST00000589042.1_Missense_Mutation_p.V7798M|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.V6554M|TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron			Q8WZ42	TITIN_HUMAN	titin	13037	Ig-like 57.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AGCTTTTTCACGAATCGTGGA	0.438													C|||	1	0.000199681	8e-04	0	5008	,	,		19982	0		0	False		,,,				2504	0					ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(23392-23394)Gtg>Atg		titin		C	MET/VAL,,,	1,3727		0,1,1863	96	89	91		19660,,,	5	1	2	dbSNP_134	91	1,8211		0,1,4105	no	missense,intron,intron,intron	TTN	NM_133378.4,NM_003319.4,NM_133432.3,NM_133437.3	21,,,	0,2,5968	TT,TC,CC		0.0122,0.0268,0.0168	probably-damaging,,,	6554/33424,,,	179584977	2,11938	1864	4106	5970	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179584977C>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.22441G>A	2.37:g.179584977C>T	ENSP00000465570:p.Val7481Met					TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.V6554M|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.V7481M	p.V7798M	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		81	23616	-			7481			Ig-like 60.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.23392G>A		2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	C	8.944	0.966529	0.18659	2.68E-4	1.22E-4	ENSG00000155657	ENST00000342992	T	0.44083	0.93	5.91	5.04	0.67666	Immunoglobulin I-set (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.58163	0.2103	M	0.75615	2.305	0.80722	D	1	D	0.69078	0.997	P	0.56434	0.798	T	0.64283	-0.6444	9	0.87932	D	0	.	13.2729	0.60172	0.0:0.8683:0.0:0.1317	.	7481	Q8WZ42	TITIN_HUMAN	M	6554	ENSP00000343764:V6554M	ENSP00000343764:V6554M	V	-	1	0	TTN	179293222	0.917000	0.31117	1.000000	0.80357	0.980000	0.70556	0.756000	0.26419	1.510000	0.48803	-0.133000	0.14855	GTG		0.438	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		4	67	0	0	0	0.014758	0	4	67					T	179584977	C	T	179584977	3	4	294	1	0	0	0	0	1	0	0	0	16732	536	19	1	81265	1	TTN	2	179584977	Missense_Mutation	SNP	C	TCGA-KC-A4BL-01A-31D-A257-08		179584977	63614396	8	14168											
NCL	4691	broad.mit.edu	37	chr2	232320221	232320221	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgacccccgaagccaccttcAcccttaggtttggcccagtc	7	8	8	18	2	1	0	1	0	0	0	2	2	1	0	6	2	1	1	6	2	2	3			TCGA-KC-A4BL-01A-31D-A257-08	TCGA-KC-A4BL-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6a47f6-a38c-4f94-bac9-81fb034fb62d	6e7ac799-87c3-4d22-bad2-57f73e88124f	g.chr2:232320221A>G	ENST00000322723.4	-	13	2187	c.1947T>C	c.(1945-1947)ggT>ggC	p.G649G	SNORA75_ENST00000384158.1_RNA|SNORD20_ENST00000384550.1_RNA	NM_005381.2	NP_005372.2	P19338	NUCL_HUMAN	nucleolin	649	Arg/Gly/Phe-rich.				angiogenesis (GO:0001525)|positive regulation of transcription of nuclear large rRNA transcript from RNA polymerase I promoter (GO:1901838)	cell cortex (GO:0005938)|cytoplasmic ribonucleoprotein granule (GO:0036464)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)|RNA binding (GO:0003723)|telomeric DNA binding (GO:0042162)			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(7)|ovary(2)|pancreas(2)|prostate(2)|skin(3)	35		Ovarian(221;1.34e-05)|Renal(207;0.0112)|Lung NSC(271;0.0339)|all_lung(227;0.0616)|all_hematologic(139;0.0748)|Hepatocellular(293;0.137)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.65e-111)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.014)|COAD - Colon adenocarcinoma(134;0.141)|STAD - Stomach adenocarcinoma(1183;0.18)		AGCCACCTTCACCCTTAGGTT	0.577																																						ENST00000322723.4																			0				breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(7)|ovary(2)|pancreas(2)|prostate(2)|skin(3)	35						c.(1945-1947)ggT>ggC		nucleolin							205	217	213					2																	232320221		2203	4300	6503	SO:0001819	synonymous_variant	4691				angiogenesis	cell cortex|nucleolus|ribonucleoprotein complex	nucleotide binding|protein C-terminus binding|RNA binding|telomeric DNA binding	g.chr2:232320221A>G		CCDS33397.1	2q37.1	2013-09-19			ENSG00000115053	ENSG00000115053		"RNA binding motif (RRM) containing"	7667	protein-coding gene	gene with protein product		164035				2394707, 3409881	Standard	NM_005381		Approved	C23	uc002vru.3	P19338	OTTHUMG00000153866	ENST00000322723.4:c.1947T>C	2.37:g.232320221A>G							p.G649G	NM_005381.2	NP_005372.2	P19338	NUCL_HUMAN		Epithelial(121;1.65e-111)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.014)|COAD - Colon adenocarcinoma(134;0.141)|STAD - Stomach adenocarcinoma(1183;0.18)	13	2187	-		Ovarian(221;1.34e-05)|Renal(207;0.0112)|Lung NSC(271;0.0339)|all_lung(227;0.0616)|all_hematologic(139;0.0748)|Hepatocellular(293;0.137)|Acute lymphoblastic leukemia(138;0.167)	649			Arg/Gly/Phe-rich.		Q53SK1|Q8NB06|Q9UCF0|Q9UDG1	Silent	SNP	ENST00000322723.4	37	c.1947T>C	CCDS33397.1																																																																																				0.577	NCL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332731.1	NM_005381		39	413	0	0	0	0.023175	0	39	413					G	232320221	A	G	232320221	2	3	294	1	0	0	0	0	0	0	0	1	10226	146	6	4		4	NCL	2	232320221	Silent	SNP	A	TCGA-KC-A4BL-01A-31D-A257-08	52735244	232320221	10879152	9	14169											
GPR171	29909	broad.mit.edu	37	chr3	150917004	150917004	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	taagcaggaaatcggctgtaAgcaaattaattaagtagatg	17	10	10	4	1	0	1	0	0	0	1	1	2	0	2	0	2	2	5	0	2	7	5			TCGA-KC-A4BL-01A-31D-A257-08	TCGA-KC-A4BL-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6a47f6-a38c-4f94-bac9-81fb034fb62d	6e7ac799-87c3-4d22-bad2-57f73e88124f	g.chr3:150917004A>C	ENST00000309180.5	-	3	400	c.170T>G	c.(169-171)cTt>cGt	p.L57R	MED12L_ENST00000273432.4_Intron|MED12L_ENST00000474524.1_Intron	NM_013308.3	NP_037440.3	O14626	GP171_HUMAN	G protein-coupled receptor 171	57					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			endometrium(1)|kidney(4)|large_intestine(4)|lung(4)|skin(1)|urinary_tract(1)	15			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			ATCGGCTGTAAGCAAATTAAT	0.403																																						ENST00000309180.5																			0				endometrium(1)|kidney(4)|large_intestine(4)|lung(4)|skin(1)|urinary_tract(1)	15						c.(169-171)cTt>cGt		G protein-coupled receptor 171							84	82	82					3																	150917004		2203	4300	6503	SO:0001583	missense	29909					integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	g.chr3:150917004A>C	AF002986	CCDS3155.1	3q25.1	2012-08-21			ENSG00000174946	ENSG00000174946		"GPCR / Class A : Orphans"	30057	protein-coding gene	gene with protein product	"platelet activating receptor homolog"					9370294	Standard	NM_013308		Approved	H963	uc003eyq.4	O14626	OTTHUMG00000159861	ENST00000309180.5:c.170T>G	3.37:g.150917004A>C	ENSP00000308479:p.Leu57Arg					MED12L_ENST00000273432.4_Intron|MED12L_ENST00000474524.1_Intron	p.L57R	NM_013308.3	NP_037440.3	O14626	GP171_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)		3	400	-			57					D3DNJ4|Q8IV06	Missense_Mutation	SNP	ENST00000309180.5	37	c.170T>G	CCDS3155.1	.	.	.	.	.	.	.	.	.	.	A	14.35	2.509565	0.44660	.	.	ENSG00000174946	ENST00000309180	T	0.37752	1.18	5.27	5.27	0.74061	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000004	T	0.53578	0.1805	L	0.46157	1.445	0.41667	D	0.989211	D	0.76494	0.999	D	0.77557	0.99	T	0.57476	-0.7805	10	0.87932	D	0	-14.5616	15.2186	0.73292	1.0:0.0:0.0:0.0	.	57	O14626	GP171_HUMAN	R	57	ENSP00000308479:L57R	ENSP00000308479:L57R	L	-	2	0	GPR171	152399694	1.000000	0.71417	0.674000	0.29902	0.295000	0.27426	6.607000	0.74163	1.997000	0.58415	0.533000	0.62120	CTT		0.403	GPR171-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357793.1	NM_013308		4	124	0	0	0	0.009096	0	4	124					C	150917004	A	C	150917004	3	2	294	1	0	0	0	0	1	0	0	0	6668	72	3	5	793	5	GPR171	3	150917004	Missense_Mutation	SNP	A	TCGA-KC-A4BL-01A-31D-A257-08		150917004	47105426	10	14170											
MECOM	2122	broad.mit.edu	37	chr3	168807797	168807797	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aaggtactcacctcactgggGatgtcttgcaactcatctcc	9	11	8	13	0	5	0	3	0	2	0	6	1	5	1	2	3	3	2	2	3	3	2			TCGA-KC-A4BL-01A-31D-A257-08	TCGA-KC-A4BL-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6a47f6-a38c-4f94-bac9-81fb034fb62d	6e7ac799-87c3-4d22-bad2-57f73e88124f	g.chr3:168807797G>T	ENST00000464456.1	-	13	4001	c.2801C>A	c.(2800-2802)tCc>tAc	p.S934Y	MECOM_ENST00000433243.2_Missense_Mutation_p.S944Y|MECOM_ENST00000264674.3_Missense_Mutation_p.S1008Y|MECOM_ENST00000460814.1_Missense_Mutation_p.S934Y|MECOM_ENST00000468789.1_Missense_Mutation_p.S943Y|MECOM_ENST00000392736.3_Missense_Mutation_p.S943Y|MECOM_ENST00000494292.1_Missense_Mutation_p.S1122Y|MECOM_ENST00000472280.1_Missense_Mutation_p.S944Y	NM_001164000.1	NP_001157472.1	Q13465	MDS1_HUMAN	MDS1 and EVI1 complex locus	0					regulation of transcription, DNA-templated (GO:0006355)		sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						CCTCACTGGGGATGTCTTGCA	0.428																																						ENST00000464456.1																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						c.(2800-2802)tCc>tAc		MDS1 and EVI1 complex locus							182	172	175					3																	168807797		2203	4300	6503	SO:0001583	missense	2122						sequence-specific DNA binding transcription factor activity	g.chr3:168807797G>T	S82592, AF164154	CCDS3205.1, CCDS54669.1, CCDS54670.1	3q26.2	2013-01-08	2009-08-07	2009-08-07	ENSG00000085276	ENSG00000085276		"Zinc fingers, C2H2-type"	3498	protein-coding gene	gene with protein product		165215	"myelodysplasia syndrome 1", "ecotropic viral integration site 1"	MDS1, EVI1		2115646, 8171026, 8643684	Standard	NM_001105077		Approved	MDS1-EVI1, PRDM3	uc011bpj.1	Q03112	OTTHUMG00000158596	ENST00000464456.1:c.2801C>A	3.37:g.168807797G>T	ENSP00000419770:p.Ser934Tyr					MECOM_ENST00000494292.1_Missense_Mutation_p.S1122Y|MECOM_ENST00000472280.1_Missense_Mutation_p.S944Y|MECOM_ENST00000468789.1_Missense_Mutation_p.S943Y|MECOM_ENST00000433243.2_Missense_Mutation_p.S944Y|MECOM_ENST00000460814.1_Missense_Mutation_p.S934Y|MECOM_ENST00000392736.3_Missense_Mutation_p.S943Y|MECOM_ENST00000264674.3_Missense_Mutation_p.S1008Y	p.S934Y	NM_001164000.1	NP_001157472.1	Q13465	MDS1_HUMAN			13	4001	-			0					Q13466|Q6FH90	Missense_Mutation	SNP	ENST00000464456.1	37	c.2801C>A	CCDS54669.1	.	.	.	.	.	.	.	.	.	.	G	14.56	2.571215	0.45798	.	.	ENSG00000085276	ENST00000264674;ENST00000392736;ENST00000464456;ENST00000472280;ENST00000494292;ENST00000468789;ENST00000460814;ENST00000433243	T;T;T;T;T;T;T;T	0.06294	3.37;3.37;3.32;3.47;3.32;3.37;3.33;3.47	5.46	5.46	0.80206	.	0.354215	0.25425	N	0.030763	T	0.18923	0.0454	L	0.36672	1.1	0.54753	D	0.999985	D;D;P;D;D	0.76494	0.999;0.999;0.86;0.999;0.999	D;D;B;D;D	0.73380	0.952;0.98;0.196;0.964;0.956	T	0.00478	-1.1715	10	0.87932	D	0	-9.6655	19.3056	0.94161	0.0:0.0:1.0:0.0	.	1131;935;1122;1008;943	Q03112-3;Q03112-6;E7EQ57;Q03112-4;Q03112	.;.;.;.;EVI1_HUMAN	Y	1008;943;934;944;1122;943;934;944	ENSP00000264674:S1008Y;ENSP00000376493:S943Y;ENSP00000419770:S934Y;ENSP00000420048:S944Y;ENSP00000417899:S1122Y;ENSP00000419995:S943Y;ENSP00000420466:S934Y;ENSP00000394302:S944Y	ENSP00000264674:S1008Y	S	-	2	0	MECOM	170290491	1.000000	0.71417	0.617000	0.29091	0.060000	0.15804	7.938000	0.87678	2.565000	0.86533	0.650000	0.86243	TCC		0.428	MECOM-020	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000351519.1	NM_005241, NM_004991		5	122	1	0	0.0215528	0.021553	0.0227074	5	122					T	168807797	G	T	168807797	3	4	294	1	0	0	0	0	1	0	0	0	9422	1174	41	5	339	5	MECOM	3	168807797	Missense_Mutation	SNP	G	TCGA-KC-A4BL-01A-31D-A257-08	17890793	168807797	29214633	11	14171											
SFRP2	6423	broad.mit.edu	37	chr4	154709577	154709577	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cggtcgcactcaagcatgtcGggccaggggaagccgaaggc	9	4	16	12	4	1	0	1	0	0	0	3	2	1	1	2	5	2	2	2	5	3	0			TCGA-KC-A4BL-01A-31D-A257-08	TCGA-KC-A4BL-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6a47f6-a38c-4f94-bac9-81fb034fb62d	6e7ac799-87c3-4d22-bad2-57f73e88124f	g.chr4:154709577G>A	ENST00000274063.4	-	1	695	c.411C>T	c.(409-411)ccC>ccT	p.P137P		NM_003013.2	NP_003004.1	Q96HF1	SFRP2_HUMAN	secreted frizzled-related protein 2	137	FZ. {ECO:0000255|PROSITE- ProRule:PRU00090}.				bone morphogenesis (GO:0060349)|brain development (GO:0007420)|cardiac left ventricle morphogenesis (GO:0003214)|cell-cell signaling (GO:0007267)|cellular response to extracellular stimulus (GO:0031668)|cellular response to X-ray (GO:0071481)|chondrocyte development (GO:0002063)|collagen fibril organization (GO:0030199)|convergent extension involved in axis elongation (GO:0060028)|digestive tract morphogenesis (GO:0048546)|embryonic digit morphogenesis (GO:0042733)|gonad development (GO:0008406)|hematopoietic stem cell proliferation (GO:0071425)|male gonad development (GO:0008584)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cardiac muscle cell apoptotic process (GO:0010667)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of dermatome development (GO:0061185)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of gene expression (GO:0010629)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902230)|negative regulation of JUN kinase activity (GO:0043508)|negative regulation of mesodermal cell fate specification (GO:0042662)|negative regulation of peptidyl-tyrosine phosphorylation (GO:0050732)|negative regulation of planar cell polarity pathway involved in axis elongation (GO:2000041)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of Wnt signaling pathway (GO:0030178)|neural tube closure (GO:0001843)|outflow tract morphogenesis (GO:0003151)|patterning of blood vessels (GO:0001569)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of angiogenesis (GO:0045766)|positive regulation of apoptotic process (GO:0043065)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cell growth (GO:0030307)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-anal tail morphogenesis (GO:0036342)|regulation of stem cell division (GO:2000035)|response to drug (GO:0042493)|response to nutrient (GO:0007584)|sclerotome development (GO:0061056)|vasculature development (GO:0001944)|Wnt signaling pathway involved in somitogenesis (GO:0090244)	cytoplasm (GO:0005737)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	endopeptidase activator activity (GO:0061133)|fibronectin binding (GO:0001968)|integrin binding (GO:0005178)|metalloenzyme activator activity (GO:0010577)|PDZ domain binding (GO:0030165)|receptor agonist activity (GO:0048018)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(1)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	16	all_hematologic(180;0.093)	Renal(120;0.117)				CAAGCATGTCGGGCCAGGGGA	0.637																																						ENST00000274063.4																			0				breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(1)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	16						c.(409-411)ccC>ccT		secreted frizzled-related protein 2							80	85	83					4																	154709577		2203	4300	6503	SO:0001819	synonymous_variant	6423				brain development|cardiac left ventricle morphogenesis|cell-cell signaling|dermatome development|hemopoietic stem cell proliferation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell growth|negative regulation of cell migration|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of transcription, DNA-dependent|outflow tract morphogenesis|patterning of blood vessels|positive regulation of angiogenesis|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell adhesion mediated by integrin|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of fat cell differentiation|positive regulation of peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter|regulation of stem cell division|sclerotome development	cytoplasm|extracellular matrix|extracellular space|plasma membrane	fibronectin binding|integrin binding|PDZ domain binding|receptor agonist activity|Wnt receptor activity|Wnt-protein binding	g.chr4:154709577G>A	AF017986	CCDS34082.1	4q31.3	2008-08-29			ENSG00000145423	ENSG00000145423		"Secreted frizzled-related proteins"	10777	protein-coding gene	gene with protein product		604157				9391078	Standard	NM_003013		Approved	SARP1, SDF-5, FRP-2	uc003inv.1	Q96HF1	OTTHUMG00000161559	ENST00000274063.4:c.411C>T	4.37:g.154709577G>A							p.P137P	NM_003013.2	NP_003004.1	Q96HF1	SFRP2_HUMAN			1	695	-	all_hematologic(180;0.093)	Renal(120;0.117)	137			FZ.		B3KQR2|O14778|Q9HAP5	Silent	SNP	ENST00000274063.4	37	c.411C>T	CCDS34082.1																																																																																				0.637	SFRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365296.1			8	162	0	0	0	0.004482	0	8	162					A	154709577	G	A	154709577	2	1	294	1	0	0	0	0	0	0	0	1	14162	1103	39	2		2	SFRP2	4	154709577	Silent	SNP	G	TCGA-KC-A4BL-01A-31D-A257-08		154709577	36444699	12	14172											
HSD17B4	3295	broad.mit.edu	37	chr5	118837734	118837734	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aattttgtttaccctaacatAggttcttcatggagagcagt	11	15	8	7	0	2	1	1	0	1	1	2	2	2	1	1	2	3	3	1	2	4	8			TCGA-KC-A4BL-01A-31D-A257-08	TCGA-KC-A4BL-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6a47f6-a38c-4f94-bac9-81fb034fb62d	6e7ac799-87c3-4d22-bad2-57f73e88124f	g.chr5:118837734A>G	ENST00000256216.6	+	14	1342		c.e14-1		HSD17B4_ENST00000504811.1_Splice_Site|HSD17B4_ENST00000515320.1_Splice_Site|HSD17B4_ENST00000513628.1_Splice_Site|HSD17B4_ENST00000510025.1_Splice_Site|HSD17B4_ENST00000509514.1_Splice_Site|HSD17B4_ENST00000414835.2_Splice_Site	NM_000414.3	NP_000405.1	P51659	DHB4_HUMAN	hydroxysteroid (17-beta) dehydrogenase 4						alpha-linolenic acid metabolic process (GO:0036109)|androgen metabolic process (GO:0008209)|bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cellular lipid metabolic process (GO:0044255)|estrogen metabolic process (GO:0008210)|fatty acid beta-oxidation (GO:0006635)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|medium-chain fatty-acyl-CoA metabolic process (GO:0036112)|metabolic process (GO:0008152)|osteoblast differentiation (GO:0001649)|oxidation-reduction process (GO:0055114)|Sertoli cell development (GO:0060009)|small molecule metabolic process (GO:0044281)|unsaturated fatty acid metabolic process (GO:0033559)|very long-chain fatty acid metabolic process (GO:0000038)|very long-chain fatty-acyl-CoA metabolic process (GO:0036111)	intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	17-beta-hydroxysteroid dehydrogenase (NAD+) activity (GO:0044594)|3-hydroxyacyl-CoA dehydrogenase activity (GO:0003857)|3alpha,7alpha,12alpha-trihydroxy-5beta-cholest-24-enoyl-CoA hydratase activity (GO:0033989)|isomerase activity (GO:0016853)|long-chain-enoyl-CoA hydratase activity (GO:0016508)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)			breast(2)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(2)	25		all_cancers(142;0.0206)|Prostate(80;0.0322)		OV - Ovarian serous cystadenocarcinoma(64;0.000247)|Epithelial(69;0.000849)|all cancers(49;0.0122)		ACCCTAACATAGGTTCTTCAT	0.368																																					Colon(35;490 801 34689 41394 43344)	ENST00000504811.1																			0				breast(2)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(2)	25						c.e15-1		hydroxysteroid (17-beta) dehydrogenase 4	NADH(DB00157)						149	153	152					5																	118837734		2202	4300	6502	SO:0001630	splice_region_variant	3295				bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase	peroxisomal matrix	3-hydroxyacyl-CoA dehydrogenase activity|3alpha,7alpha,12alpha-trihydroxy-5beta-cholest-24-enoyl-CoA hydratase activity|estradiol 17-beta-dehydrogenase activity|isomerase activity|long-chain-enoyl-CoA hydratase activity|protein binding|sterol binding|sterol transporter activity	g.chr5:118837734A>G		CCDS4126.1, CCDS56378.1, CCDS56379.1	5q2	2011-09-20			ENSG00000133835	ENSG00000133835	4.2.1.107, 1.1.1.35	"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3"	5213	protein-coding gene	gene with protein product	"17beta-estradiol dehydrogenase type IV", "peroxisomal multifunctional protein 2", "17-beta-HSD IV", "17-beta-hydroxysteroid dehydrogenase 4", "D-bifunctional protein, peroxisomal", "D-3-hydroxyacyl-CoA dehydratase", "3-alpha,7-alpha,12-alpha-trihydroxy-5-beta-cholest-24-enoyl-CoA hydratase", "beta-keto-reductase", "beta-hydroxyacyl dehydrogenase", "short chain dehydrogenase/reductase family 8C, member 1"	601860				8938456, 19027726	Standard	NM_000414		Approved	MFE-2, DBP, SDR8C1	uc003ksj.3	P51659	OTTHUMG00000128899	ENST00000256216.6:c.1210-1A>G	5.37:g.118837734A>G						HSD17B4_ENST00000414835.2_Splice_Site|HSD17B4_ENST00000509514.1_Splice_Site|HSD17B4_ENST00000515320.1_Splice_Site|HSD17B4_ENST00000510025.1_Splice_Site|HSD17B4_ENST00000513628.1_Splice_Site|HSD17B4_ENST00000256216.6_Splice_Site		NM_001199291.1	NP_001186220.1	P51659	DHB4_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;0.000247)|Epithelial(69;0.000849)|all cancers(49;0.0122)	15	1468	+		all_cancers(142;0.0206)|Prostate(80;0.0322)						B4DNV1|B4DVS5|E9PB82|F5HE57	Splice_Site	SNP	ENST00000256216.6	37		CCDS4126.1	.	.	.	.	.	.	.	.	.	.	A	14.88	2.666398	0.47677	.	.	ENSG00000133835	ENST00000256216;ENST00000515320;ENST00000510025;ENST00000504811;ENST00000414835;ENST00000513628;ENST00000509514	.	.	.	5.05	5.05	0.67936	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.3778	0.60750	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	HSD17B4	118865633	1.000000	0.71417	0.949000	0.38748	0.679000	0.39708	7.355000	0.79434	2.035000	0.60131	0.529000	0.55759	.		0.368	HSD17B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250863.3	NM_000414	Intron	9	143	0	0	0	0.006214	0	9	143					G	118837734	A	G	118837734	5	3	294	1	0	0	0	0	0	0	1	0	7386	434	15	4	1262	4	HSD17B4	5	118837734	Splice_Site	SNP	A	TCGA-KC-A4BL-01A-31D-A257-08		118837734	62077526	13	14173											
CAMK2A	815	broad.mit.edu	37	chr5	149602668	149602668	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgcgtgggatgccgccagcGtccaggtactgcgtgatgcg	5	8	17	11	5	0	1	0	1	0	0	1	2	1	2	3	2	6	1	3	2	1	1	rs373201434		TCGA-KC-A4BL-01A-31D-A257-08	TCGA-KC-A4BL-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6a47f6-a38c-4f94-bac9-81fb034fb62d	6e7ac799-87c3-4d22-bad2-57f73e88124f	g.chr5:149602668G>A	ENST00000348628.6	-	17	1982	c.1317C>T	c.(1315-1317)gaC>gaT	p.D439D	CAMK2A_ENST00000398376.3_Silent_p.D450D|CAMK2A_ENST00000351010.6_5'UTR	NM_015981.3|NM_171825.2	NP_057065.2|NP_741960.1	Q9UQM7	KCC2A_HUMAN	calcium/calmodulin-dependent protein kinase II alpha	439					calcium ion transport (GO:0006816)|cytokine-mediated signaling pathway (GO:0019221)|G1/S transition of mitotic cell cycle (GO:0000082)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of neuronal synaptic plasticity (GO:0048168)|regulation of neurotransmitter secretion (GO:0046928)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|synapse (GO:0045202)	ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|calmodulin-dependent protein kinase activity (GO:0004683)|kinase activity (GO:0016301)|protein homodimerization activity (GO:0042803)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|skin(1)|stomach(1)	15		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TGCCGCCAGCGTCCAGGTACT	0.642																																						ENST00000348628.6																			0				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|skin(1)|stomach(1)	15						c.(1315-1317)gaC>gaT		calcium/calmodulin-dependent protein kinase II alpha		G	,	1,4405	2.1+/-5.4	0,1,2202	74	83	80		1350,1317	-4.8	0.5	5		80	0,8598		0,0,4299	no	coding-synonymous,coding-synonymous	CAMK2A	NM_015981.3,NM_171825.2	,	0,1,6501	AA,AG,GG		0.0,0.0227,0.0077	,	450/490,439/479	149602668	1,13003	2203	4299	6502	SO:0001819	synonymous_variant	815				interferon-gamma-mediated signaling pathway|positive regulation of NF-kappaB transcription factor activity|synaptic transmission	cell junction|cytosol|endocytic vesicle membrane|nucleoplasm|presynaptic membrane	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity	g.chr5:149602668G>A	AB023185	CCDS43386.1, CCDS43387.1	5q32	2013-09-20	2008-10-30		ENSG00000070808	ENSG00000070808	2.7.11.17		1460	protein-coding gene	gene with protein product	"CaM-kinase II alpha chain", "calcium/calmodulin-dependent protein kinase II alpha-B subunit", "CaM kinase II alpha subunit", "CaMK-II alpha subunit", "calcium/calmodulin-dependent protein kinase type II alpha chain"	114078	"calcium/calmodulin-dependent protein kinase (CaM kinase) II alpha"	CAMKA		10231032, 3475713	Standard	NM_015981		Approved	KIAA0968, CaMKIINalpha	uc003lrt.2	Q9UQM7	OTTHUMG00000134281	ENST00000348628.6:c.1317C>T	5.37:g.149602668G>A						CAMK2A_ENST00000351010.6_5'UTR|CAMK2A_ENST00000398376.3_Silent_p.D450D	p.D439D	NM_015981.3|NM_171825.2	NP_057065.2|NP_741960.1	Q9UQM7	KCC2A_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		17	1982	-		all_hematologic(541;0.224)	439					Q9UL21|Q9Y2H4|Q9Y352	Silent	SNP	ENST00000348628.6	37	c.1317C>T	CCDS43386.1																																																																																				0.642	CAMK2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258869.2	NM_015981		5	96	0	0	0	0.014758	0	5	96					A	149602668	G	A	149602668	2	1	294	1	0	0	0	0	0	0	0	1	2599	1136	40	1		1	CAMK2A	5	149602668	Silent	SNP	G	TCGA-KC-A4BL-01A-31D-A257-08	30764934	149602668	31312592	14	14174											
FUCA2	2519	broad.mit.edu	37	chr6	143828561	143828561	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ttttccttttgccaataccaCctaaggggaggaaaggaaag	13	10	10	8	0	0	0	0	0	0	0	1	3	1	3	4	4	2	0	4	4	5	6			TCGA-KC-A4BL-01A-31D-A257-08	TCGA-KC-A4BL-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6a47f6-a38c-4f94-bac9-81fb034fb62d	6e7ac799-87c3-4d22-bad2-57f73e88124f	g.chr6:143828561C>T	ENST00000002165.6	-	2	280	c.225G>A	c.(223-225)tgG>tgA	p.W75*	RP1-20N2.6_ENST00000593175.1_RNA|RP1-20N2.6_ENST00000593045.1_RNA|RP1-20N2.6_ENST00000590703.1_RNA|FUCA2_ENST00000438118.2_Splice_Site_p.W75*|RP1-20N2.6_ENST00000415586.1_RNA|RP1-20N2.6_ENST00000591189.1_RNA|RP1-20N2.6_ENST00000591892.1_RNA|FUCA2_ENST00000367585.1_5'UTR|RP1-20N2.6_ENST00000589489.1_RNA|RP1-20N2.6_ENST00000589563.1_RNA	NM_032020.4	NP_114409.2	Q9BTY2	FUCO2_HUMAN	fucosidase, alpha-L- 2, plasma	75					fucose metabolic process (GO:0006004)|glycoside catabolic process (GO:0016139)|regulation of entry of bacterium into host cell (GO:2000535)|response to bacterium (GO:0009617)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	alpha-L-fucosidase activity (GO:0004560)|fucose binding (GO:0042806)			endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9				OV - Ovarian serous cystadenocarcinoma(155;7.45e-06)|GBM - Glioblastoma multiforme(68;0.0142)		GCCAATACCACCTAAGGGGAG	0.388																																						ENST00000002165.5																			0				endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9						c.e2-1		fucosidase, alpha-L- 2, plasma							70	78	75					6																	143828561		2203	4300	6503	SO:0001630	splice_region_variant	2519				fucose metabolic process	extracellular region	alpha-L-fucosidase activity|cation binding	g.chr6:143828561C>T	BC003060	CCDS5200.1	6q24	2012-10-02			ENSG00000001036	ENSG00000001036	3.2.1.51		4008	protein-coding gene	gene with protein product		136820				6590153	Standard	NM_032020		Approved	MGC1314, dJ20N2.5	uc003qjm.3	Q9BTY2	OTTHUMG00000015728	ENST00000002165.6:c.225-1G>A	6.37:g.143828561C>T						FUCA2_ENST00000438118.2_Splice_Site_p.W75_splice|FUCA2_ENST00000367585.1_Splice_Site_p.W75_splice	p.W75_splice	NM_032020.4	NP_114409.2	Q9BTY2	FUCO2_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;7.45e-06)|GBM - Glioblastoma multiforme(68;0.0142)	2	280	-			75					E9PEB6|Q7Z6V1|Q7Z6Y2|Q8NBK4	Splice_Site	SNP	ENST00000002165.6	37	c.224_splice	CCDS5200.1	.	.	.	.	.	.	.	.	.	.	C	36	5.640036	0.96693	.	.	ENSG00000001036	ENST00000002165;ENST00000438118;ENST00000367585	.	.	.	4.91	4.91	0.64330	.	0.139208	0.52532	D	0.000066	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	18.6402	0.91393	0.0:1.0:0.0:0.0	.	.	.	.	X	75	.	ENSP00000002165:W75X	W	-	3	0	FUCA2	143870254	1.000000	0.71417	1.000000	0.80357	0.916000	0.54674	7.278000	0.78587	2.698000	0.92095	0.655000	0.94253	TGG		0.388	FUCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042521.2	NM_032020	Nonsense_Mutation	8	117	0	0	0	0.00308	0	8	117					T	143828561	C	T	143828561	5	4	294	1	0	0	0	0	0	0	1	0	6095	521	18	3	1202	3	FUCA2	6	143828561	Splice_Site	SNP	C	TCGA-KC-A4BL-01A-31D-A257-08		143828561	27286506	15	14175											
VPS13B	157680	broad.mit.edu	37	chr8	100160146	100160146	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aatatattcctactcgacatAcaagtgttactctcctcaaa	14	13	3	11	1	2	0	1	0	1	0	5	1	3	0	2	0	3	1	2	0	8	6			TCGA-KC-A4BL-01A-31D-A257-08	TCGA-KC-A4BL-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6a47f6-a38c-4f94-bac9-81fb034fb62d	6e7ac799-87c3-4d22-bad2-57f73e88124f	g.chr8:100160146A>G	ENST00000358544.2	+	14	2032	c.1921A>G	c.(1921-1923)Aca>Gca	p.T641A	VPS13B_ENST00000395996.1_Missense_Mutation_p.T641A|VPS13B_ENST00000357162.2_Missense_Mutation_p.T641A|VPS13B_ENST00000355155.1_Missense_Mutation_p.T641A	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	641					protein transport (GO:0015031)					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			TACTCGACATACAAGTGTTAC	0.343																																					Colon(161;2205 2542 7338 31318)	ENST00000395996.1																			0				NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193						c.(1921-1923)Aca>Gca		vacuolar protein sorting 13 homolog B (yeast)							170	165	166					8																	100160146		2203	4300	6503	SO:0001583	missense	157680				protein transport			g.chr8:100160146A>G	AJ608772	CCDS6280.1, CCDS6281.1, CCDS6283.1, CCDS47903.1	8q22-q23	2014-09-17	2006-12-19	2005-04-08	ENSG00000132549	ENSG00000132549			2183	protein-coding gene	gene with protein product		607817	"Cohen syndrome 1"	CHS1, COH1		7920642, 15498460	Standard	NM_181661		Approved		uc003yiv.4	Q7Z7G8	OTTHUMG00000140383	ENST00000358544.2:c.1921A>G	8.37:g.100160146A>G	ENSP00000351346:p.Thr641Ala					VPS13B_ENST00000355155.1_Missense_Mutation_p.T641A|VPS13B_ENST00000358544.2_Missense_Mutation_p.T641A|VPS13B_ENST00000357162.2_Missense_Mutation_p.T641A	p.T641A			Q7Z7G8	VP13B_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.00636)		14	2032	+	Breast(36;3.73e-07)		641					C9JD30|Q709C6|Q709C7|Q7Z7G4|Q7Z7G5|Q7Z7G6|Q7Z7G7|Q8NB77|Q9NWV1|Q9Y4E7	Missense_Mutation	SNP	ENST00000358544.2	37	c.1921A>G	CCDS6280.1	.	.	.	.	.	.	.	.	.	.	A	15.22	2.768740	0.49680	.	.	ENSG00000132549	ENST00000355155;ENST00000357162;ENST00000358544;ENST00000395996	T;T;T;T	0.77620	-1.11;-0.41;-0.41;-0.11	5.17	5.17	0.71159	.	0.086607	0.49916	D	0.000128	T	0.68742	0.3034	L	0.27053	0.805	0.43462	D	0.995661	P;P;P;B;B	0.46277	0.875;0.875;0.802;0.4;0.4	P;P;B;B;B	0.45037	0.467;0.467;0.277;0.121;0.121	T	0.70809	-0.4771	10	0.48119	T	0.1	.	10.5338	0.44992	0.8556:0.0:0.0:0.1444	.	641;641;641;641;641	Q7Z7G8-6;Q7Z7G8-2;Q7Z7G8;Q7Z7G8-3;Q7Z7G8-4	.;.;VP13B_HUMAN;.;.	A	641	ENSP00000347281:T641A;ENSP00000349685:T641A;ENSP00000351346:T641A;ENSP00000379318:T641A	ENSP00000347281:T641A	T	+	1	0	VPS13B	100229322	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	6.462000	0.73526	2.063000	0.61619	0.533000	0.62120	ACA		0.343	VPS13B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000277138.1	NM_184042		4	239	0	0	0	0.014758	0	4	239					G	100160146	A	G	100160146	3	3	294	1	0	0	0	0	1	0	0	0	17187	391	14	4	2013	4	VPS13B	8	100160146	Missense_Mutation	SNP	A	TCGA-KC-A4BL-01A-31D-A257-08		100160146	46203876	16	14176											
SPATC1	375686	broad.mit.edu	37	chr8	145094892	145094892	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atggccttggcacccctggcCgagatgctaaccagcttgca	8	8	11	14	1	0	1	0	0	0	1	0	2	0	1	5	3	4	4	5	3	1	3	rs151043400		TCGA-KC-A4BL-01A-31D-A257-08	TCGA-KC-A4BL-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6a47f6-a38c-4f94-bac9-81fb034fb62d	6e7ac799-87c3-4d22-bad2-57f73e88124f	g.chr8:145094892C>T	ENST00000377470.3	+	2	396	c.294C>T	c.(292-294)gcC>gcT	p.A98A	SPATC1_ENST00000447830.2_Silent_p.A98A	NM_198572.2	NP_940974.2	Q76KD6	SPERI_HUMAN	spermatogenesis and centriole associated 1	98						centrosome (GO:0005813)|cytoplasm (GO:0005737)				NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;3.67e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CACCCCTGGCCGAGATGCTAA	0.637																																						ENST00000377470.3																			0				NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15						c.(292-294)gcC>gcT		spermatogenesis and centriole associated 1		C	,	1,4405	2.1+/-5.4	0,1,2202	75	77	76		294,294	0.5	0.9	8	dbSNP_134	76	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	SPATC1	NM_001134374.1,NM_198572.2	,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,	98/442,98/592	145094892	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	375686							g.chr8:145094892C>T	BC053547	CCDS6413.2, CCDS47937.1	8q24.3	2005-01-11			ENSG00000186583	ENSG00000186583			30510	protein-coding gene	gene with protein product		610874				15280373	Standard	NM_198572		Approved	MGC61633, SPATA15, SPERIOLIN	uc011lkw.2	Q76KD6	OTTHUMG00000156976	ENST00000377470.3:c.294C>T	8.37:g.145094892C>T						SPATC1_ENST00000447830.2_Silent_p.A98A	p.A98A	NM_198572.2	NP_940974.2	Q76KD6	SPERI_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;3.67e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		2	396	+	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		98					B4DWW9|Q5U5I8|Q7Z6L7	Silent	SNP	ENST00000377470.3	37	c.294C>T	CCDS6413.2																																																																																				0.637	SPATC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000346926.1	NM_198572		4	129	0	0	0	0.014758	0	4	129					T	145094892	C	T	145094892	2	4	294	1	0	0	0	0	0	0	0	1	15016	639	23	2		2	SPATC1	8	145094892	Silent	SNP	C	TCGA-KC-A4BL-01A-31D-A257-08	44934746	145094892	1269130	17	14177											
PRPF19	27339	broad.mit.edu	37	chr11	60668386	60668386	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggccaggatcccaggaatgcTggcactgtgcaacccctttg	8	8	12	13	0	0	0	0	0	0	0	1	2	1	2	4	4	3	3	4	4	2	1			TCGA-KC-A4BL-01A-31D-A257-08	TCGA-KC-A4BL-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6a47f6-a38c-4f94-bac9-81fb034fb62d	6e7ac799-87c3-4d22-bad2-57f73e88124f	g.chr11:60668386T>C	ENST00000227524.4	-	9	863	c.658A>G	c.(658-660)Agc>Ggc	p.S220G		NM_014502.4	NP_055317.1			pre-mRNA processing factor 19											haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|urinary_tract(1)	22						CCAGGAATGCTGGCACTGTGC	0.607																																						ENST00000227524.4																			0				haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|urinary_tract(1)	22						c.(658-660)Agc>Ggc		pre-mRNA processing factor 19							63	58	60					11																	60668386		2203	4299	6502	SO:0001583	missense	27339				DNA repair|protein polyubiquitination|spliceosome assembly	catalytic step 2 spliceosome|nuclear speck|spindle|ubiquitin ligase complex	DNA binding|identical protein binding|ubiquitin-ubiquitin ligase activity	g.chr11:60668386T>C	BC018698	CCDS7995.1	11q12.2	2014-05-20	2013-06-10	2005-04-01	ENSG00000110107	ENSG00000110107		"WD repeat domain containing", "U-box domain containing"	17896	protein-coding gene	gene with protein product	"nuclear matrix protein NMP200 related to splicing factor PRP19", "psoralen 4"	608330	"PRP19/PSO4 homolog (S. cerevisiae)", "PRP19/PSO4 pre-mRNA processing factor 19 homolog (S. cerevisiae)"	PRP19		12960389	Standard	NM_014502		Approved	UBOX4, NMP200, PSO4, hPSO4	uc001nqf.3	Q9UMS4	OTTHUMG00000167798	ENST00000227524.4:c.658A>G	11.37:g.60668386T>C	ENSP00000227524:p.Ser220Gly						p.S220G	NM_014502.4	NP_055317.1	Q9UMS4	PRP19_HUMAN			9	863	-			220						Missense_Mutation	SNP	ENST00000227524.4	37	c.658A>G	CCDS7995.1	.	.	.	.	.	.	.	.	.	.	T	17.22	3.333552	0.60853	.	.	ENSG00000110107	ENST00000227524;ENST00000541371	T	0.62498	0.02	5.67	5.67	0.87782	WD40/YVTN repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.64193	0.2576	M	0.75085	2.285	0.80722	D	1	B	0.15719	0.014	B	0.15484	0.013	T	0.61946	-0.6958	10	0.45353	T	0.12	-26.1376	15.5939	0.76562	0.0:0.0:0.0:1.0	.	220	Q9UMS4	PRP19_HUMAN	G	220	ENSP00000227524:S220G	ENSP00000227524:S220G	S	-	1	0	PRPF19	60424962	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.687000	0.84139	2.164000	0.68074	0.533000	0.62120	AGC		0.607	PRPF19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396334.1	NM_014502		8	79	0	0	0	0.004482	0	8	79					C	60668386	T	C	60668386	3	2	294	1	0	0	0	0	1	0	0	0	12564	1580	55	4	888	4	PRPF19	11	60668386	Missense_Mutation	SNP	T	TCGA-KC-A4BL-01A-31D-A257-08		60668386	74338130	18	14178											
RELA	5970	broad.mit.edu	37	chr11	65426194	65426194	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcctgatgtatacctttcTgcaccttgtcacacagtagg	8	13	7	13	0	2	1	1	1	1	0	3	1	3	1	4	1	2	3	4	1	3	5			TCGA-KC-A4BL-01A-31D-A257-08	TCGA-KC-A4BL-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6a47f6-a38c-4f94-bac9-81fb034fb62d	6e7ac799-87c3-4d22-bad2-57f73e88124f	g.chr11:65426194T>C	ENST00000406246.3	-	7	920	c.659A>G	c.(658-660)cAg>cGg	p.Q220R	RELA_ENST00000308639.9_Missense_Mutation_p.Q217R|RELA_ENST00000525693.1_Missense_Mutation_p.Q220R	NM_001243984.1|NM_001243985.1|NM_021975.3	NP_001230913.1|NP_001230914.1|NP_068810.3	Q04206	TF65_HUMAN	v-rel avian reticuloendotheliosis viral oncogene homolog A	220	RHD. {ECO:0000255|PROSITE- ProRule:PRU00265}.				acetaldehyde metabolic process (GO:0006117)|aging (GO:0007568)|cellular defense response (GO:0006968)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to interleukin-1 (GO:0071347)|cellular response to interleukin-6 (GO:0071354)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to nicotine (GO:0071316)|cellular response to peptide hormone stimulus (GO:0071375)|cellular response to tumor necrosis factor (GO:0071356)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|Fc-epsilon receptor signaling pathway (GO:0038095)|hair follicle development (GO:0001942)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|liver development (GO:0001889)|membrane protein intracellular domain proteolysis (GO:0031293)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nucleotide-binding oligomerization domain containing 2 signaling pathway (GO:0070431)|organ morphogenesis (GO:0009887)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-12 biosynthetic process (GO:0045084)|positive regulation of miRNA metabolic process (GO:2000630)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of Schwann cell differentiation (GO:0014040)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|regulation of inflammatory response (GO:0050727)|response to amino acid (GO:0043200)|response to cAMP (GO:0051591)|response to cobalamin (GO:0033590)|response to drug (GO:0042493)|response to insulin (GO:0032868)|response to interleukin-1 (GO:0070555)|response to mechanical stimulus (GO:0009612)|response to morphine (GO:0043278)|response to muramyl dipeptide (GO:0032495)|response to organic substance (GO:0010033)|response to progesterone (GO:0032570)|response to UV-B (GO:0010224)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	activating transcription factor binding (GO:0033613)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|NF-kappaB binding (GO:0051059)|phosphate ion binding (GO:0042301)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|repressing transcription factor binding (GO:0070491)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(11)|ovary(1)|urinary_tract(1)	19						TATACCTTTCTGCACCTTGTC	0.562																																						ENST00000525693.1																			0				central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(11)|ovary(1)|urinary_tract(1)	19						c.(658-660)cAg>cGg		v-rel avian reticuloendotheliosis viral oncogene homolog A							120	103	109					11																	65426194		2201	4297	6498	SO:0001583	missense	5970				anti-apoptosis|cellular defense response|cytokine-mediated signaling pathway|defense response to virus|inflammatory response|innate immune response|interspecies interaction between organisms|membrane protein intracellular domain proteolysis|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription, DNA-dependent|nerve growth factor receptor signaling pathway|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of inflammatory response|response to interleukin-1|response to UV-B|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|transcription factor complex	activating transcription factor binding|chromatin binding|identical protein binding|NF-kappaB binding|phosphate binding|protein kinase binding|protein N-terminus binding|repressing transcription factor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|ubiquitin protein ligase binding	g.chr11:65426194T>C	Z22951	CCDS31609.1, CCDS44651.1, CCDS73322.1	11q13	2013-07-09	2013-07-09		ENSG00000173039	ENSG00000173039			9955	protein-coding gene	gene with protein product		164014	"nuclear factor of kappa light polypeptide gene enhancer in B-cells 3"	NFKB3		2001591	Standard	NM_021975		Approved	p65	uc001ofg.3	Q04206	OTTHUMG00000166566	ENST00000406246.3:c.659A>G	11.37:g.65426194T>C	ENSP00000384273:p.Gln220Arg					RELA_ENST00000308639.9_Missense_Mutation_p.Q217R|RELA_ENST00000406246.3_Missense_Mutation_p.Q220R	p.Q220R			Q04206	TF65_HUMAN			7	721	-			220			RHD.		Q6GTV1|Q6SLK1	Missense_Mutation	SNP	ENST00000406246.3	37	c.659A>G	CCDS31609.1	.	.	.	.	.	.	.	.	.	.	T	25.9	4.684952	0.88639	.	.	ENSG00000173039	ENST00000406246;ENST00000525693;ENST00000308639;ENST00000426617;ENST00000545816;ENST00000532999	T;T;T;T	0.09911	2.93;2.93;2.93;2.93	4.8	4.8	0.61643	Cell surface receptor IPT/TIG (1);Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.33760	0.0874	M	0.80616	2.505	0.54753	D	0.999988	D;D;D;D;D;D	0.89917	0.997;0.996;0.996;0.994;1.0;0.998	D;D;D;D;D;D	0.77004	0.956;0.988;0.988;0.973;0.989;0.952	T	0.13791	-1.0496	10	0.87932	D	0	-16.7622	12.6124	0.56558	0.0:0.0:0.0:1.0	.	220;207;217;220;231;220	Q04206-3;Q04206-2;Q04206-4;Q04206;B4E082;Q2TAM5	.;.;.;TF65_HUMAN;.;.	R	220;220;217;220;231;231	ENSP00000384273:Q220R;ENSP00000432537:Q220R;ENSP00000311508:Q217R;ENSP00000433526:Q231R	ENSP00000311508:Q217R	Q	-	2	0	RELA	65182770	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.851000	0.86920	1.933000	0.56026	0.533000	0.62120	CAG		0.562	RELA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390457.2	NM_021975		16	146	0	0	0	0.028581	0	16	146					C	65426194	T	C	65426194	3	2	294	1	0	0	0	0	1	0	0	0	13216	1580	55	4	1016	4	RELA	11	65426194	Missense_Mutation	SNP	T	TCGA-KC-A4BL-01A-31D-A257-08	4757808	65426194	69580322	19	14179											
NADSYN1	55191	broad.mit.edu	37	chr11	71209471	71209471	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgaccacgctcacacccgCgtaccacgccgagaactaca	12	4	8	17	5	1	2	1	1	0	1	1	4	1	2	4	0	3	2	4	0	3	2			TCGA-KC-A4BL-01A-31D-A257-08	TCGA-KC-A4BL-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6a47f6-a38c-4f94-bac9-81fb034fb62d	6e7ac799-87c3-4d22-bad2-57f73e88124f	g.chr11:71209471C>T	ENST00000319023.2	+	20	2155	c.1967C>T	c.(1966-1968)gCg>gTg	p.A656V	NADSYN1_ENST00000539574.1_Missense_Mutation_p.A396V|NADSYN1_ENST00000530055.1_Missense_Mutation_p.A285V	NM_018161.4	NP_060631.2	Q6IA69	NADE_HUMAN	NAD synthetase 1	656	Ligase. {ECO:0000250}.				NAD biosynthetic process (GO:0009435)|NAD metabolic process (GO:0019674)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds (GO:0016810)|NAD+ synthase (glutamine-hydrolyzing) activity (GO:0003952)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	25					L-Glutamine(DB00130)	CTCACACCCGCGTACCACGCC	0.522																																					Ovarian(79;763 1781 6490 50276)	ENST00000319023.2																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	25						c.(1966-1968)gCg>gTg		NAD synthetase 1	L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)						157	128	138					11																	71209471		2200	4294	6494	SO:0001583	missense	55191				NAD biosynthetic process|water-soluble vitamin metabolic process	cytosol	ATP binding|hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds|NAD+ synthase (glutamine-hydrolyzing) activity|protein binding	g.chr11:71209471C>T	AB091316	CCDS8201.1	11q13.4	2008-02-05				ENSG00000172890			29832	protein-coding gene	gene with protein product		608285				12547821	Standard	NM_018161		Approved	FLJ10631	uc001oqn.3	Q6IA69		ENST00000319023.2:c.1967C>T	11.37:g.71209471C>T	ENSP00000326424:p.Ala656Val					NADSYN1_ENST00000530055.1_Missense_Mutation_p.A285V|NADSYN1_ENST00000539574.1_Missense_Mutation_p.A396V	p.A656V	NM_018161.4	NP_060631.2	Q6IA69	NADE_HUMAN			20	2155	+			656			Ligase (By similarity).		B3KUU4|Q86SN2|Q9HA25|Q9NVM8	Missense_Mutation	SNP	ENST00000319023.2	37	c.1967C>T	CCDS8201.1	.	.	.	.	.	.	.	.	.	.	c	14.11	2.436183	0.43224	.	.	ENSG00000172890	ENST00000319023;ENST00000539574;ENST00000530055	T;T;T	0.40756	1.02;1.02;1.02	5.21	4.3	0.51218	Rossmann-like alpha/beta/alpha sandwich fold (1);	0.222920	0.37393	N	0.002105	T	0.58409	0.2120	M	0.75085	2.285	0.49299	D	0.99977	D;P	0.69078	0.997;0.688	P;B	0.59357	0.856;0.318	T	0.59043	-0.7528	10	0.33940	T	0.23	-30.0653	13.6829	0.62496	0.0:0.8439:0.1561:0.0	.	396;656	B3KUU4;Q6IA69	.;NADE_HUMAN	V	656;396;285	ENSP00000326424:A656V;ENSP00000443718:A396V;ENSP00000431820:A285V	ENSP00000326424:A656V	A	+	2	0	NADSYN1	70887119	0.990000	0.36364	0.098000	0.21074	0.002000	0.02628	4.965000	0.63708	1.190000	0.43042	-0.234000	0.12200	GCG		0.522	NADSYN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394356.1	NM_018161		5	187	0	0	0	0.001984	0	5	187					T	71209471	C	T	71209471	3	4	294	1	0	0	0	0	1	0	0	0	10138	768	27	1	2045	1	NADSYN1	11	71209471	Missense_Mutation	SNP	C	TCGA-KC-A4BL-01A-31D-A257-08	5783277	71209471	63797045	20	14180											
ERC1	23085	broad.mit.edu	37	chr12	1192464	1192464	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgacagaggagaactttcaGaggcttcatgctgagcatga	12	9	12	8	0	2	6	2	3	0	3	2	7	2	6	0	2	3	3	0	2	1	2			TCGA-KC-A4BL-01A-31D-A257-08	TCGA-KC-A4BL-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6a47f6-a38c-4f94-bac9-81fb034fb62d	6e7ac799-87c3-4d22-bad2-57f73e88124f	g.chr12:1192464G>T	ENST00000397203.2	+	3	1210	c.804G>T	c.(802-804)caG>caT	p.Q268H	ERC1_ENST00000589028.1_Missense_Mutation_p.Q268H|ERC1_ENST00000360905.4_Missense_Mutation_p.Q268H|ERC1_ENST00000546231.2_Missense_Mutation_p.Q268H|ERC1_ENST00000355446.5_Missense_Mutation_p.Q268H|ERC1_ENST00000543086.3_Missense_Mutation_p.Q268H			Q8IUD2	RB6I2_HUMAN	ELKS/RAB6-interacting/CAST family member 1	268					I-kappaB phosphorylation (GO:0007252)|multicellular organismal development (GO:0007275)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein transport (GO:0015031)|regulation of transcription, DNA-templated (GO:0006355)|retrograde transport, endosome to Golgi (GO:0042147)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|IkappaB kinase complex (GO:0008385)|presynaptic membrane (GO:0042734)	leucine zipper domain binding (GO:0043522)			NS(1)|breast(2)|cervix(2)|endometrium(2)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	38	all_epithelial(11;0.0698)|Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.00239)|BRCA - Breast invasive adenocarcinoma(9;0.0567)			AGAACTTTCAGAGGCTTCATG	0.507																																						ENST00000397203.2																			0				NS(1)|breast(2)|cervix(2)|endometrium(2)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						c.(802-804)caG>caT		ELKS/RAB6-interacting/CAST family member 1							76	69	71					12																	1192464		2203	4300	6503	SO:0001583	missense	23085				I-kappaB phosphorylation|multicellular organismal development|positive regulation of anti-apoptosis|positive regulation of NF-kappaB transcription factor activity|protein transport	Golgi membrane|IkappaB kinase complex|presynaptic membrane	leucine zipper domain binding	g.chr12:1192464G>T	AB015617	CCDS8508.1, CCDS53732.1	12p13.3	2008-02-05	2006-08-14	2006-08-14	ENSG00000082805	ENSG00000082805			17072	protein-coding gene	gene with protein product		607127	"RAB6 interacting protein 2"	RAB6IP2		10697956, 11929610	Standard	NM_178040		Approved	ELKS, KIAA1081, CAST2, MGC12974	uc001qjb.2	Q8IUD2	OTTHUMG00000130138	ENST00000397203.2:c.804G>T	12.37:g.1192464G>T	ENSP00000380386:p.Gln268His					ERC1_ENST00000543086.3_Missense_Mutation_p.Q268H|ERC1_ENST00000355446.5_Missense_Mutation_p.Q268H|ERC1_ENST00000589028.1_Missense_Mutation_p.Q268H|ERC1_ENST00000360905.4_Missense_Mutation_p.Q268H|ERC1_ENST00000546231.2_Missense_Mutation_p.Q268H	p.Q268H			Q8IUD2	RB6I2_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00239)|BRCA - Breast invasive adenocarcinoma(9;0.0567)		3	1210	+	all_epithelial(11;0.0698)|Ovarian(42;0.107)		268					A2RU77|A7E295|D3DUP7|D3DUP8|Q6NVK2|Q8IUD3|Q8IUD4|Q8IUD5|Q8NAS1|Q9NXN5|Q9UIK7|Q9UPS1	Missense_Mutation	SNP	ENST00000397203.2	37	c.804G>T	CCDS8508.1	.	.	.	.	.	.	.	.	.	.	G	14.03	2.412733	0.42817	.	.	ENSG00000082805	ENST00000347735;ENST00000397203;ENST00000454194;ENST00000537890;ENST00000543086;ENST00000542302;ENST00000546231;ENST00000355446;ENST00000360905;ENST00000440394;ENST00000538971	T;T;T;T;T;T;T;T	0.44881	0.91;0.91;0.91;0.91;0.91;0.91;0.91;0.91	5.62	4.73	0.59995	.	0.061231	0.64402	D	0.000002	T	0.35682	0.0940	L	0.29908	0.895	0.35334	D	0.785869	P;P;P;P	0.42993	0.742;0.643;0.797;0.783	B;B;B;P	0.46419	0.382;0.179;0.424;0.516	T	0.49899	-0.8890	10	0.54805	T	0.06	-23.63	7.5644	0.27870	0.1442:0.1368:0.719:0.0	.	44;268;268;268	F5H327;Q8IUD2-2;Q8IUD2-3;Q8IUD2	.;.;.;RB6I2_HUMAN	H	268;268;268;268;268;268;268;268;268;268;44	ENSP00000340054:Q268H;ENSP00000380386:Q268H;ENSP00000438546:Q268H;ENSP00000445336:Q268H;ENSP00000442739:Q268H;ENSP00000347621:Q268H;ENSP00000354158:Q268H;ENSP00000410064:Q268H	ENSP00000340054:Q268H	Q	+	3	2	ERC1	1062725	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	0.647000	0.24812	1.503000	0.48686	0.655000	0.94253	CAG		0.507	ERC1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398380.2	NM_015064		10	74	1	0	7.48243e-07	0.006214	8.65614e-07	10	74					T	1192464	G	T	1192464	3	4	294	1	0	0	0	0	1	0	0	0	5210	933	33	5	810	5	ERC1	12	1192464	Missense_Mutation	SNP	G	TCGA-KC-A4BL-01A-31D-A257-08		1192464	132659431	21	14181											
SLC39A5	283375	broad.mit.edu	37	chr12	56629464	56629464	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agaacatgctggggcttttgCggcaccgagggctcaggcca	8	7	15	11	2	1	1	1	0	0	1	1	2	1	1	2	5	3	4	2	5	1	2			TCGA-KC-A4BL-01A-31D-A257-08	TCGA-KC-A4BL-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6a47f6-a38c-4f94-bac9-81fb034fb62d	6e7ac799-87c3-4d22-bad2-57f73e88124f	g.chr12:56629464C>T	ENST00000266980.4	+	6	1218	c.925C>T	c.(925-927)Cgg>Tgg	p.R309W	ANKRD52_ENST00000548241.1_5'Flank|SLC39A5_ENST00000454355.2_Missense_Mutation_p.R309W	NM_001135195.1	NP_001128667.1	Q6ZMH5	S39A5_HUMAN	solute carrier family 39 (zinc transporter), member 5	309					cellular response to zinc ion starvation (GO:0034224)|G1 to G0 transition involved in cell differentiation (GO:0070315)|neural precursor cell proliferation (GO:0061351)|transmembrane transport (GO:0055085)|zinc ion transport (GO:0006829)	basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	metal ion transmembrane transporter activity (GO:0046873)	p.R308W(1)		NS(1)|cervix(6)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						GGGGCTTTTGCGGCACCGAGG	0.632																																						ENST00000266980.4																			1	Substitution - Missense(1)	p.R308W(1)	prostate(1)	NS(1)|cervix(6)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(925-927)Cgg>Tgg		solute carrier family 39 (zinc transporter), member 5							155	155	155					12																	56629464		2203	4300	6503	SO:0001583	missense	283375				zinc ion transport	basolateral plasma membrane|integral to membrane	metal ion transmembrane transporter activity	g.chr12:56629464C>T		CCDS8912.2	12q13.3	2013-07-17	2013-07-17		ENSG00000139540	ENSG00000139540		"Solute carriers"	20502	protein-coding gene	gene with protein product		608730	"solute carrier family 39 (metal ion transporter), member 5"				Standard	NM_173596		Approved		uc010sqj.2	Q6ZMH5	OTTHUMG00000156962	ENST00000266980.4:c.925C>T	12.37:g.56629464C>T	ENSP00000266980:p.Arg309Trp					SLC39A5_ENST00000454355.2_Missense_Mutation_p.R309W	p.R309W	NM_001135195.1	NP_001128667.1	Q6ZMH5	S39A5_HUMAN			6	1218	+			309					B2R808|Q8N6Y3	Missense_Mutation	SNP	ENST00000266980.4	37	c.925C>T	CCDS8912.2	.	.	.	.	.	.	.	.	.	.	C	18.91	3.722711	0.68959	.	.	ENSG00000139540	ENST00000454355;ENST00000266980	T;T	0.48522	0.81;0.81	3.7	3.7	0.42460	.	.	.	.	.	T	0.63522	0.2518	M	0.80616	2.505	0.33220	D	0.554505	D;D	0.65815	0.995;0.995	P;P	0.58077	0.832;0.667	T	0.74702	-0.3576	9	0.72032	D	0.01	-20.8821	11.2733	0.49153	0.0:1.0:0.0:0.0	.	309;200	Q6ZMH5;B4DPG8	S39A5_HUMAN;.	W	309	ENSP00000405360:R309W;ENSP00000266980:R309W	ENSP00000266980:R309W	R	+	1	2	SLC39A5	54915731	0.996000	0.38824	0.961000	0.40146	0.988000	0.76386	1.198000	0.32223	2.372000	0.80975	0.655000	0.94253	CGG		0.632	SLC39A5-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346834.1	NM_173596		5	354	0	0	0	0.021553	0	5	354					T	56629464	C	T	56629464	3	4	294	1	0	0	0	0	1	0	0	0	14621	759	27	1	943	1	SLC39A5	12	56629464	Missense_Mutation	SNP	C	TCGA-KC-A4BL-01A-31D-A257-08	55437000	56629464	77222431	22	14182											
TFDP1	7027	broad.mit.edu	37	chr13	114290866	114290866	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cagatttgagtatctgtttaAttttgacaacacatttgaaa	14	16	6	5	0	1	4	0	3	1	1	1	4	1	4	0	0	1	2	0	0	4	7			TCGA-KC-A4BL-01A-31D-A257-08	TCGA-KC-A4BL-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6a47f6-a38c-4f94-bac9-81fb034fb62d	6e7ac799-87c3-4d22-bad2-57f73e88124f	g.chr13:114290866A>G	ENST00000375370.5	+	10	1069	c.857A>G	c.(856-858)aAt>aGt	p.N286S	TFDP1_ENST00000538138.1_Missense_Mutation_p.N191S|TFDP1_ENST00000544902.1_Missense_Mutation_p.N191S	NM_007111.4	NP_009042.1	Q14186	TFDP1_HUMAN	transcription factor Dp-1	286	DCB2.|Enhances binding of RB protein to E2F.				anoikis (GO:0043276)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|epidermis development (GO:0008544)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|intrinsic apoptotic signaling pathway (GO:0097193)|mitotic cell cycle (GO:0000278)|Notch signaling pathway (GO:0007219)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of DNA biosynthetic process (GO:2000278)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|protein domain specific binding (GO:0019904)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(10)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	26	Lung NSC(43;0.0113)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.132)|all_epithelial(44;0.0731)|all_lung(25;0.149)|Breast(118;0.153)	all cancers(43;0.0576)			TATCTGTTTAATTTTGACAAC	0.542										TSP Lung(29;0.18)																												ENST00000375370.5																			0				breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(10)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	26						c.(856-858)aAt>aGt		transcription factor Dp-1							100	103	102					13																	114290866		2203	4300	6503	SO:0001583	missense	7027				cell proliferation|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|regulation of transcription from RNA polymerase II promoter	transcription factor complex	DNA binding|protein domain specific binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding	g.chr13:114290866A>G	BC011685	CCDS9538.1	13q34	2008-07-18			ENSG00000198176	ENSG00000198176			11749	protein-coding gene	gene with protein product		189902				8413592, 9027491	Standard	NM_007111		Approved	Dp-1, DRTF1, DP1	uc001vtw.3	Q14186	OTTHUMG00000017388	ENST00000375370.5:c.857A>G	13.37:g.114290866A>G	ENSP00000364519:p.Asn286Ser	TSP Lung(29;0.18)				TFDP1_ENST00000544902.1_Missense_Mutation_p.N191S|TFDP1_ENST00000538138.1_Missense_Mutation_p.N191S	p.N286S	NM_007111.4	NP_009042.1	Q14186	TFDP1_HUMAN	all cancers(43;0.0576)		10	1069	+	Lung NSC(43;0.0113)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.132)|all_epithelial(44;0.0731)|all_lung(25;0.149)|Breast(118;0.153)	286			DCB2.|Enhances binding of RB protein to E2F.		B4DLQ9|Q5JSB4|Q8IZL5	Missense_Mutation	SNP	ENST00000375370.5	37	c.857A>G	CCDS9538.1	.	.	.	.	.	.	.	.	.	.	A	15.79	2.936965	0.52972	.	.	ENSG00000198176	ENST00000538138;ENST00000375370;ENST00000544902	T;T;T	0.46451	0.87;1.8;0.91	4.4	4.4	0.53042	Transcription factor DP, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.43787	0.1263	L	0.59912	1.85	0.80722	D	1	B;B;P;B	0.49862	0.161;0.166;0.929;0.415	B;B;B;B	0.43990	0.081;0.152;0.438;0.102	T	0.50890	-0.8774	10	0.72032	D	0.01	.	13.6209	0.62136	1.0:0.0:0.0:0.0	.	191;191;191;286	F5H452;B4DLQ9;B7Z569;Q14186	.;.;.;TFDP1_HUMAN	S	191;286;191	ENSP00000443878:N191S;ENSP00000364519:N286S;ENSP00000438450:N191S	ENSP00000364519:N286S	N	+	2	0	TFDP1	113338867	1.000000	0.71417	0.990000	0.47175	0.928000	0.56348	8.380000	0.90149	1.619000	0.50296	0.402000	0.26972	AAT		0.542	TFDP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045918.3	NM_007111		6	128	0	0	0	0.00308	0	6	128					G	114290866	A	G	114290866	3	3	294	1	0	0	0	0	1	0	0	0	15794	101	4	4	891	4	TFDP1	13	114290866	Missense_Mutation	SNP	A	TCGA-KC-A4BL-01A-31D-A257-08		114290866	879012	23	14183											
AHNAK2	113146	broad.mit.edu	37	chr14	105419654	105419654	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaggtccccctgcatggagaGgaggctcacgtcggcctcca	7	6	14	14	2	1	1	1	0	0	1	4	4	3	2	4	5	1	2	4	5	0	0	rs150847607	byFrequency	TCGA-KC-A4BL-01A-31D-A257-08	TCGA-KC-A4BL-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6a47f6-a38c-4f94-bac9-81fb034fb62d	6e7ac799-87c3-4d22-bad2-57f73e88124f	g.chr14:105419654G>A	ENST00000333244.5	-	7	2253	c.2134C>T	c.(2134-2136)Ctc>Ttc	p.L712F	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	712						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			TGCATGGAGAGGAGGCTCACG	0.617													G|||	5	0.000998403	0.003	0	5008	,	,		18896	0		0	False		,,,				2504	0.001					ENST00000333244.5																			0				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33						c.(2134-2136)Ctc>Ttc		AHNAK nucleoprotein 2							129	139	136					14																	105419654		1986	4159	6145	SO:0001583	missense	113146					nucleus		g.chr14:105419654G>A	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"chromosome 14 open reading frame 78"	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.2134C>T	14.37:g.105419654G>A	ENSP00000353114:p.Leu712Phe					AHNAK2_ENST00000557457.1_Intron	p.L712F	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)		7	2253	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	712					Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	ENST00000333244.5	37	c.2134C>T	CCDS45177.1	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	g	11.89	1.773738	0.31411	.	.	ENSG00000185567	ENST00000333244	T	0.00892	5.57	2.77	1.82	0.25136	.	.	.	.	.	T	0.00552	0.0018	N	0.08118	0	0.09310	N	1	B	0.31026	0.304	B	0.18263	0.021	T	0.43925	-0.9361	9	0.11485	T	0.65	-0.5972	8.8173	0.35004	0.1275:0.0:0.8725:0.0	.	712	Q8IVF2	AHNK2_HUMAN	F	712	ENSP00000353114:L712F	ENSP00000353114:L712F	L	-	1	0	AHNAK2	104490699	0.205000	0.23458	0.019000	0.16419	0.007000	0.05969	2.721000	0.47260	1.087000	0.41251	0.556000	0.70494	CTC		0.617	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		5	328	0	0	0	0.021553	0	5	328					A	105419654	G	A	105419654	3	1	294	1	0	0	0	0	1	0	0	0	415	1000	35	3	15257	3	AHNAK2	14	105419654	Missense_Mutation	SNP	G	TCGA-KC-A4BL-01A-31D-A257-08		105419654	1929886	24	14184											
MGA	23269	broad.mit.edu	37	chr15	42041985	42041986	+	Frame_Shift_Del	DEL	AG	AG	-																															actgggtcacatacagatcaAgattataaagatgttaatga																										TCGA-KC-A4BL-01A-31D-A257-08	TCGA-KC-A4BL-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6a47f6-a38c-4f94-bac9-81fb034fb62d	6e7ac799-87c3-4d22-bad2-57f73e88124f	g.chr15:42041985_42041986delAG	ENST00000570161.1	+	16	6180_6181	c.6180_6181delAG	c.(6178-6183)caagatfs	p.D2061fs	MGA_ENST00000566586.1_Frame_Shift_Del_p.D1852fs|MGA_ENST00000389936.4_Frame_Shift_Del_p.D2022fs|MGA_ENST00000219905.7_Frame_Shift_Del_p.D2061fs|MGA_ENST00000545763.1_Frame_Shift_Del_p.D1852fs			O43451	MGA_HUMAN	MGA, MAX dimerization protein	0					carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)			NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)	Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	ATACAGATCAAGATTATAAAGA	0.406																																						ENST00000219905.7																			0				NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95						c.(6178-6183)caatfs		MGA, MAX dimerization protein																																				SO:0001589	frameshift_variant	23269					MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr15:42041985_42041986delAG	AB011090	CCDS55959.1, CCDS55960.1	15q15	2012-11-15	2012-11-15		ENSG00000174197	ENSG00000174197		"MAX dimerization proteins", "T-boxes"	14010	protein-coding gene	gene with protein product			"MAX gene associated"				Standard	NM_001080541		Approved	KIAA0518, MAD5, MXD5, FLJ12634	uc010ucy.2	Q8IWI9		ENST00000570161.1:c.6180_6181delAG	15.37:g.42041985_42041986delAG	ENSP00000457035:p.Asp2061fs					MGA_ENST00000545763.1_Frame_Shift_Del_p.QD1851fs|MGA_ENST00000389936.4_Frame_Shift_Del_p.QD2021fs|MGA_ENST00000566586.1_Frame_Shift_Del_p.QD1851fs|MGA_ENST00000570161.1_Frame_Shift_Del_p.QD2060fs	p.QD2060fs	NM_001164273.1	NP_001157745.1	Q8IWI9	MGAP_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)	17	6361_6362	+		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)	2021					Q0VAX6|Q75ME7|Q86UM5	Frame_Shift_Del	DEL	ENST00000570161.1	37	c.6180_6181delAG	CCDS55959.1																																																																																				0.406	MGA-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000420229.1	NM_001164273.1		22	204						22	204	---	---	---	---	-	42041986	AG	-	42041985	7	5	294	1	0	1	0	1	0	0	0	0	9540	69	3	0	6242	0	MGA	15	42041985	Frame_Shift_Del	DEL	AG	TCGA-KC-A4BL-01A-31D-A257-08		42041985	60489407	25	14185											
LOC100132247	100132247	broad.mit.edu	37	chr16	22545578	22545580	+	In_Frame_Del	DEL	ATA	ATA	-																															gcttccaccctcagcggatgAtaatctcaagacaccttccg																										TCGA-KC-A4BL-01A-31D-A257-08	TCGA-KC-A4BL-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6a47f6-a38c-4f94-bac9-81fb034fb62d	6e7ac799-87c3-4d22-bad2-57f73e88124f	g.chr16:22545578_22545580delATA	ENST00000517539.1	+	8	1349_1351	c.1274_1276delATA	c.(1273-1278)gataat>gat	p.N426del	NPIPB5_ENST00000415654.1_3'UTR|NPIPB5_ENST00000424340.1_In_Frame_Del_p.N426del			A8MRT5	NPIB5_HUMAN	nuclear pore complex interacting protein family, member B5	426	Pro-rich.					integral component of membrane (GO:0016021)											TCAGCGGATGATAATCTCAAGAC	0.586																																						ENST00000424340.1																			0											c.(1273-1278)gat>g		nuclear pore complex interacting protein family, member B5				72,304		29,14,145							0			1	29,645		11,7,319	no	coding	LOC100132247	NM_001135865.1		40,21,464	A1A1,A1R,RR		4.3027,19.1489,9.619				101,949				SO:0001651	inframe_deletion	100132247							g.chr16:22545578_22545580delATA		CCDS45443.1	16p12.2	2013-06-11			ENSG00000243716	ENSG00000243716			37233	protein-coding gene	gene with protein product							Standard	NM_001135865		Approved			A8MRT5	OTTHUMG00000163573	ENST00000517539.1:c.1274_1276delATA	16.37:g.22545578_22545580delATA	ENSP00000430633:p.Asn426del					NPIPB5_ENST00000415654.1_3'UTR|NPIPB5_ENST00000517539.1_In_Frame_Del_p.DN425del	p.DN425del	NM_001135865.1	NP_001129337.1					7	1553_1555	+								B4DK13	In_Frame_Del	DEL	ENST00000517539.1	37	c.1274_1276delATA	CCDS45443.1																																																																																				0.586	NPIPB5-002	NOVEL	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374343.2	NM_001135865		3	4						3	4	---	---	---	---	-	22545580	ATA	-	22545578	7	5	294	1	0	1	0	1	0	0	0	0	8868	333	12	0	1300	0	LOC100132247	16	22545578	In_Frame_Del	DEL	ATA	TCGA-KC-A4BL-01A-31D-A257-08		22545578	67809175	26	14186											
NLRC5	84166	broad.mit.edu	37	chr16	57101678	57101678	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttaacctctgtgaggacgaTgatgccagttccctgctgct	7	12	11	11	1	1	2	0	2	1	0	2	4	2	3	3	1	4	4	3	1	1	2			TCGA-KC-A4BL-01A-31D-A257-08	TCGA-KC-A4BL-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6a47f6-a38c-4f94-bac9-81fb034fb62d	6e7ac799-87c3-4d22-bad2-57f73e88124f	g.chr16:57101678T>A	ENST00000262510.6	+	36	4662	c.4437T>A	c.(4435-4437)gaT>gaA	p.D1479E	NLRC5_ENST00000436936.1_Missense_Mutation_p.D1479E|NLRC5_ENST00000539144.1_Missense_Mutation_p.D1450E|NLRC5_ENST00000308149.7_Missense_Mutation_p.D1450E	NM_032206.4	NP_115582.4	Q86WI3	NLRC5_HUMAN	NLR family, CARD domain containing 5	1479					defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of type I interferon production (GO:0032480)|negative regulation of type I interferon-mediated signaling pathway (GO:0060339)|positive regulation of interferon-gamma-mediated signaling pathway (GO:0060335)|positive regulation of MHC class I biosynthetic process (GO:0045345)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340)|regulation of kinase activity (GO:0043549)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)			NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	75		all_neural(199;0.225)				GTGAGGACGATGATGCCAGTT	0.507																																						ENST00000436936.1																			0				NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	75						c.(4435-4437)gaT>gaA		NLR family, CARD domain containing 5							175	151	159					16																	57101678		2198	4300	6498	SO:0001583	missense	84166				defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|regulation of kinase activity	cytosol|nucleus	ATP binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding	g.chr16:57101678T>A	AF389420	CCDS10773.1	16q13	2008-02-05			ENSG00000140853	ENSG00000140853		"Nucleotide-binding domain and leucine rich repeat containing"	29933	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 5", "NOD-like receptor C5"	613537				12615073	Standard	NM_032206		Approved	NOD27, CLR16.1, FLJ21709	uc021tiu.1	Q86WI3	OTTHUMG00000133470	ENST00000262510.6:c.4437T>A	16.37:g.57101678T>A	ENSP00000262510:p.Asp1479Glu					NLRC5_ENST00000308149.7_Missense_Mutation_p.D1450E|NLRC5_ENST00000539144.1_Missense_Mutation_p.D1450E|NLRC5_ENST00000262510.6_Missense_Mutation_p.D1479E	p.D1479E			Q86WI3	NLRC5_HUMAN			36	4662	+		all_neural(199;0.225)	1479					B5MEF1|C9JMD8|Q6P4A6|Q86VM7|Q8NF42|Q8TEE2|Q8TEJ1|Q969L7	Missense_Mutation	SNP	ENST00000262510.6	37	c.4437T>A	CCDS10773.1	.	.	.	.	.	.	.	.	.	.	T	0.006	-2.077564	0.00375	.	.	ENSG00000140853	ENST00000262510;ENST00000308149;ENST00000436936;ENST00000539144	T;T;T;T	0.54675	2.25;2.25;0.56;2.25	1.91	-3.46	0.04767	.	.	.	.	.	T	0.37404	0.1002	L	0.49126	1.545	0.09310	N	1	B	0.15141	0.012	B	0.06405	0.002	T	0.24584	-1.0156	9	0.33940	T	0.23	.	2.7038	0.05156	0.2118:0.3867:0.0:0.4015	.	1479	Q86WI3	NLRC5_HUMAN	E	1479;1450;1479;1450	ENSP00000262510:D1479E;ENSP00000308886:D1450E;ENSP00000389739:D1479E;ENSP00000441727:D1450E	ENSP00000262510:D1479E	D	+	3	2	NLRC5	55659179	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.355000	0.07671	-0.919000	0.03803	-0.732000	0.03574	GAT		0.507	NLRC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257346.1	NM_032206		4	159	0	0	0	0.009096	0	4	159					A	57101678	T	A	57101678	3	1	294	1	0	0	0	0	1	0	0	0	10470	1461	51	5	4571	5	NLRC5	16	57101678	Missense_Mutation	SNP	T	TCGA-KC-A4BL-01A-31D-A257-08	34556100	57101678	33253075	27	14187											
TP53	7157	broad.mit.edu	37	chr17	7577548	7577548	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgggcctccggttcatgcCgcccatgcaggaactgttac	7	9	12	13	2	1	0	1	0	0	0	2	2	2	1	4	3	4	3	4	3	2	2	rs28934575|rs397516437		TCGA-KC-A4BL-01A-31D-A257-08	TCGA-KC-A4BL-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6a47f6-a38c-4f94-bac9-81fb034fb62d	6e7ac799-87c3-4d22-bad2-57f73e88124f	g.chr17:7577548C>T	ENST00000269305.4	-	7	922	c.733G>A	c.(733-735)Ggc>Agc	p.G245S	TP53_ENST00000445888.2_Missense_Mutation_p.G245S|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Missense_Mutation_p.G245S|TP53_ENST00000359597.4_Missense_Mutation_p.G245S|TP53_ENST00000420246.2_Missense_Mutation_p.G245S|TP53_ENST00000413465.2_Missense_Mutation_p.G245S	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	245	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Interacts with the 53BP2 SH3 domain.|Required for interaction with ZNF385A.		G -> A (in sporadic cancers; somatic mutation).|G -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:1978757}.|G -> D (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:2259385}.|G -> E (in a sporadic cancer; somatic mutation).|G -> F (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> H (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|G -> L (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> N (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> R (in sporadic cancers; somatic mutation).|G -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934575). {ECO:0000269|PubMed:8829627}.|G -> V (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:2263646}.		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.G245S(304)|p.G245C(59)|p.G245R(10)|p.G152S(8)|p.0?(8)|p.?(5)|p.G152C(4)|p.G244_M246>V(3)|p.G245N(2)|p.G245fs*2(2)|p.G245H(1)|p.G245L(1)|p.G244fs*17(1)|p.G245F(1)|p.C242_M246>L(1)|p.C238_M246delCNSSCMGGM(1)|p.G245fs*22(1)|p.S241_G245delSCMGG(1)|p.C242fs*98(1)|p.M243fs*18(1)|p.G151_M153>V(1)|p.G245del(1)|p.G245fs*14(1)|p.G245fs*17(1)|p.G245fs*16(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	CGGTTCATGCCGCCCATGCAG	0.577	G245S(LS1034_LARGE_INTESTINE)|G245S(NUGC2_STOMACH)|G245S(PANC0403_PANCREAS)|G245S(SKLMS1_SOFT_TISSUE)|G245S(SKMEL2_SKIN)	111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2	G245S(LS1034_LARGE_INTESTINE)|G245S(NUGC2_STOMACH)|G245S(PANC0403_PANCREAS)|G245S(SKLMS1_SOFT_TISSUE)|G245S(SKMEL2_SKIN)	111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"Mis, N, F"	tumor protein p53			"L, E, M, O"		"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"	"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"		420	Substitution - Missense(390)|Deletion - Frameshift(8)|Whole gene deletion(8)|Complex - deletion inframe(5)|Unknown(5)|Deletion - In frame(3)|Insertion - Frameshift(1)	p.G245S(304)|p.G245C(59)|p.G245R(10)|p.G152S(8)|p.0?(8)|p.?(5)|p.G152C(4)|p.G244_M246>V(3)|p.G245N(2)|p.G245fs*2(2)|p.G245H(1)|p.G245L(1)|p.G244fs*17(1)|p.G245F(1)|p.C242_M246>L(1)|p.C238_M246delCNSSCMGGM(1)|p.G245fs*22(1)|p.S241_G245delSCMGG(1)|p.C242fs*98(1)|p.M243fs*18(1)|p.G151_M153>V(1)|p.G245del(1)|p.G245fs*14(1)|p.G245fs*17(1)|p.G245fs*16(1)	large_intestine(119)|lung(51)|breast(38)|ovary(29)|central_nervous_system(27)|upper_aerodigestive_tract(25)|stomach(25)|haematopoietic_and_lymphoid_tissue(23)|oesophagus(22)|urinary_tract(14)|skin(9)|liver(7)|prostate(7)|biliary_tract(5)|bone(5)|pancreas(4)|soft_tissue(3)|vulva(2)|endometrium(2)|kidney(1)|cervix(1)|salivary_gland(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185	GRCh37	CM010463|CM900210|CM920674	TP53	M	rs28934575	c.(733-735)Ggc>Agc	Other conserved DNA damage response genes	tumor protein p53		C	SER/GLY,SER/GLY,SER/GLY,SER/GLY,SER/GLY,SER/GLY,SER/GLY	0,4406		0,0,2203	149	112	125	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	733,733,733,733,337,337,337	4.6	1	17	dbSNP_125	125	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense,missense,missense,missense	TP53	NM_000546.4,NM_001126112.1,NM_001126113.1,NM_001126114.1,NM_001126115.1,NM_001126116.1,NM_001126117.1	56,56,56,56,56,56,56	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	245/394,245/394,245/347,245/342,113/262,113/210,113/215	7577548	1,13005	2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577548C>T	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"Li-Fraumeni syndrome"	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.733G>A	17.37:g.7577548C>T	ENSP00000269305:p.Gly245Ser	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_ENST00000269305.4_Missense_Mutation_p.G245S|TP53_ENST00000413465.2_Missense_Mutation_p.G245S|TP53_ENST00000359597.4_Missense_Mutation_p.G245S|TP53_ENST00000455263.2_Missense_Mutation_p.G245S|TP53_ENST00000445888.2_Missense_Mutation_p.G245S	p.G245S	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	7	865	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	245		G -> A (in sporadic cancers; somatic mutation).|G -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|G -> D (in LFS; germline mutation and in sporadic cancers; somatic mutation).|G -> E (in a sporadic cancer; somatic mutation).|G -> F (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> H (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|G -> L (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> N (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> R (in sporadic cancers; somatic mutation).|G -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934575).|G -> V (in LFS; germline mutation and in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.733G>A	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	33	5.259904	0.95368	0.0	1.16E-4	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99894	-7.58;-7.58;-7.58;-7.58;-7.58;-7.58;-7.58;-7.58	4.62	4.62	0.57501	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99878	0.9942	M	0.84585	2.705	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;0.999;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	0.999;0.976;0.992;0.999;0.999;1.0	D	0.96039	0.9023	10	0.87932	D	0	-19.4293	15.3618	0.74483	0.0:1.0:0.0:0.0	rs28934575	245;245;152;245;245;245	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	S	245;245;245;245;245;245;234;152;113;152	ENSP00000410739:G245S;ENSP00000352610:G245S;ENSP00000269305:G245S;ENSP00000398846:G245S;ENSP00000391127:G245S;ENSP00000391478:G245S;ENSP00000425104:G113S;ENSP00000423862:G152S	ENSP00000269305:G245S	G	-	1	0	TP53	7518273	1.000000	0.71417	0.965000	0.40720	0.974000	0.67602	7.609000	0.82925	2.564000	0.86499	0.462000	0.41574	GGC		0.577	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		5	95	0	0	0	0.014758	0	5	95					T	7577548	C	T	7577548	3	4	294	1	0	0	0	0	1	0	0	0	16378	652	23	2	557	2	TP53	17	7577548	Missense_Mutation	SNP	C	TCGA-KC-A4BL-01A-31D-A257-08		7577548	73617662	28	14188											
KRTAP9-2	83899	broad.mit.edu	37	chr17	39383026	39383026	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agcacaccctgctgccagccCgcctgctgtgtgtccagctg	5	8	11	17	1	0	0	0	0	0	0	1	0	1	0	5	0	6	4	5	0	0	0	rs527833476		TCGA-KC-A4BL-01A-31D-A257-08	TCGA-KC-A4BL-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6a47f6-a38c-4f94-bac9-81fb034fb62d	6e7ac799-87c3-4d22-bad2-57f73e88124f	g.chr17:39383026C>T	ENST00000377721.3	+	1	127	c.120C>T	c.(118-120)ccC>ccT	p.P40P	KRTAP9-2_ENST00000455970.2_Silent_p.P40P	NM_031961.2	NP_114167.2	Q9BYQ4	KRA92_HUMAN	keratin associated protein 9-2	40	17 X 5 AA repeats of C-C-[RQVSGE]-[SPTQ]- [TASP].					keratin filament (GO:0045095)				large_intestine(1)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	11		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000397)			GCTGCCAGCCCGCCTGCTGTG	0.637													.|||	1	0.000199681	8e-04	0	5008	,	,		21774	0		0	False		,,,				2504	0					ENST00000377721.3																			0				large_intestine(1)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	11						c.(118-120)ccC>ccT		keratin associated protein 9-2							58	52	54					17																	39383026		2203	4300	6503	SO:0001819	synonymous_variant	83899					keratin filament	protein binding	g.chr17:39383026C>T	AJ406946	CCDS32651.1	17q21.2	2013-06-25			ENSG00000239886	ENSG00000239886		"Keratin associated proteins"	16926	protein-coding gene	gene with protein product						11279113	Standard	NM_031961		Approved	KAP9.2	uc002hwf.3	Q9BYQ4	OTTHUMG00000133609	ENST00000377721.3:c.120C>T	17.37:g.39383026C>T						KRTAP9-2_ENST00000455970.2_Silent_p.P40P	p.P40P	NM_031961.2	NP_114167.2	Q9BYQ4	KRA92_HUMAN	STAD - Stomach adenocarcinoma(17;0.000397)		1	127	+		Breast(137;0.000496)	40			17 X 5 AA repeats of C-C-[RQVSGE]-[SPTQ]- [TASP].		Q17RK8|Q2TB15|Q6ISF6	Silent	SNP	ENST00000377721.3	37	c.120C>T	CCDS32651.1																																																																																				0.637	KRTAP9-2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257717.1			10	183	0	0	0	0.010729	0	10	183					T	39383026	C	T	39383026	2	4	294	1	0	0	0	0	0	0	0	1	8573	639	23	2		2	KRTAP9-2	17	39383026	Silent	SNP	C	TCGA-KC-A4BL-01A-31D-A257-08	31805478	39383026	41812184	29	14189											
CBX4	8535	broad.mit.edu	37	chr17	77807801	77807801	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagtaacggtgaggcagttcGcggtgacgtcggtgataatt	10	10	15	6	5	0	3	0	3	0	0	2	3	0	3	0	4	1	3	0	4	3	4			TCGA-KC-A4BL-01A-31D-A257-08	TCGA-KC-A4BL-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6a47f6-a38c-4f94-bac9-81fb034fb62d	6e7ac799-87c3-4d22-bad2-57f73e88124f	g.chr17:77807801G>A	ENST00000269397.4	-	5	1817	c.1640C>T	c.(1639-1641)gCg>gTg	p.A547V		NM_003655.2	NP_003646.2	O00257	CBX4_HUMAN	chromobox homolog 4	547	Interaction with RNF2.				chromatin modification (GO:0016568)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|protein sumoylation (GO:0016925)|transcription, DNA-templated (GO:0006351)	nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)	chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|ligase activity (GO:0016874)|single-stranded RNA binding (GO:0003727)|SUMO binding (GO:0032183)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			GAGGCAGTTCGCGGTGACGTC	0.622																																						ENST00000269397.4																			0				breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	18						c.(1639-1641)gCg>gTg		chromobox homolog 4							53	59	57					17																	77807801		2203	4300	6503	SO:0001583	missense	8535				anti-apoptosis|chromatin modification|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|PcG protein complex	enzyme binding|transcription corepressor activity	g.chr17:77807801G>A	AF013956	CCDS32758.1	17q25.3	2010-07-06	2010-06-24		ENSG00000141582	ENSG00000141582			1554	protein-coding gene	gene with protein product	"NS5ATP1-binding protein 16", "Pc class 2 homolog (Drosophila)"	603079	"chromobox homolog 4 (Drosophila Pc class)"			9315667	Standard	NM_003655		Approved	hPC2, PC2, NBP16	uc002jxe.3	O00257	OTTHUMG00000150415	ENST00000269397.4:c.1640C>T	17.37:g.77807801G>A	ENSP00000269397:p.Ala547Val						p.A547V	NM_003655.2	NP_003646.2	O00257	CBX4_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)		5	1817	-			547			Interaction with RNF2.		B1PJR7|Q6TPI8|Q96C04	Missense_Mutation	SNP	ENST00000269397.4	37	c.1640C>T	CCDS32758.1	.	.	.	.	.	.	.	.	.	.	G	24.9	4.583456	0.86748	.	.	ENSG00000141582	ENST00000269397;ENST00000343048	.	.	.	3.16	3.16	0.36331	.	0.890365	0.09588	U	0.781849	T	0.52917	0.1764	L	0.38175	1.15	0.80722	D	1	D	0.61080	0.989	P	0.49799	0.622	T	0.56517	-0.7966	9	0.72032	D	0.01	-40.157	13.0469	0.58931	0.0:0.0:1.0:0.0	.	547	O00257	CBX4_HUMAN	V	547;277	.	ENSP00000269397:A547V	A	-	2	0	CBX4	75422396	1.000000	0.71417	1.000000	0.80357	0.909000	0.53808	8.757000	0.91657	1.796000	0.52611	0.299000	0.19835	GCG		0.622	CBX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318007.1	NM_003655		7	141	0	0	0	0.004482	0	7	141					A	77807801	G	A	77807801	3	1	294	1	0	0	0	0	1	0	0	0	2720	1087	38	1	46	1	CBX4	17	77807801	Missense_Mutation	SNP	G	TCGA-KC-A4BL-01A-31D-A257-08	38424775	77807801	3387409	30	14190											
SEH1L	81929	broad.mit.edu	37	chr18	12986964	12986964	+	3'UTR	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctctggtagagcactcttgcGatgctgacactgccaacctc	8	10	9	14	1	2	2	0	1	2	1	3	3	2	2	2	1	5	3	2	1	2	2	rs142773894	byFrequency	TCGA-KC-A4BL-01A-31D-A257-08	TCGA-KC-A4BL-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6a47f6-a38c-4f94-bac9-81fb034fb62d	6e7ac799-87c3-4d22-bad2-57f73e88124f	g.chr18:12986964G>A	ENST00000262124.11	+	0	2923				RP11-773H22.4_ENST00000588211.1_RNA|SEH1L_ENST00000399892.2_Missense_Mutation_p.D392N	NM_031216.3	NP_112493.2	Q96EE3	SEH1_HUMAN	SEH1-like (S. cerevisiae)						attachment of spindle microtubules to kinetochore involved in mitotic sister chromatid segregation (GO:0051315)|carbohydrate metabolic process (GO:0005975)|cytokine production involved in inflammatory response (GO:0002534)|cytokine-mediated signaling pathway (GO:0019221)|defense response to Gram-positive bacterium (GO:0050830)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic metaphase plate congression (GO:0007080)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|nuclear pore organization (GO:0006999)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|kinetochore (GO:0000776)|nuclear envelope (GO:0005635)|nuclear pore outer ring (GO:0031080)				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(5)|pancreas(1)|prostate(1)	11						GCACTCTTGCGATGCTGACAC	0.527																																						ENST00000399892.2																			0				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(5)|pancreas(1)|prostate(1)	11						c.(1174-1176)Gat>Aat		SEH1-like (S. cerevisiae)		G	ASN/ASP,	1,4405	2.1+/-5.4	0,1,2202	92	84	87		1174,	5.7	1	18	dbSNP_134	87	0,8600		0,0,4300	no	missense,utr-3	SEH1L	NM_001013437.1,NM_031216.3	23,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	possibly-damaging,	392/422,	12986964	1,13005	2203	4300	6503	SO:0001624	3_prime_UTR_variant	81929				attachment of spindle microtubules to kinetochore involved in mitotic sister chromatid segregation|carbohydrate metabolic process|cell division|glucose transport|mitotic metaphase plate congression|mitotic prometaphase|mRNA transport|nuclear pore organization|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex		g.chr18:12986964G>A	BC012430	CCDS32791.1, CCDS45832.1	18p11.21	2013-01-10				ENSG00000085415		"WD repeat domain containing"	30379	protein-coding gene	gene with protein product	"sec13 like protein", "nucleoporin Seh1"	609263				12196509, 14517296	Standard	XM_005258152		Approved	SEH1A, SEH1B, Seh1, SEC13L	uc002krq.3	Q96EE3		ENST00000262124.11:c.*1713G>A	18.37:g.12986964G>A						RP11-773H22.4_ENST00000588211.1_RNA|SEH1L_ENST00000262124.11_3'UTR	p.D392N	NM_001013437.1	NP_001013455.1	Q96EE3	SEH1_HUMAN			9	1275	+			0					A8K5B1|Q8NFU6|Q96MH3|Q9C069	Missense_Mutation	SNP	ENST00000262124.11	37	c.1174G>A	CCDS45832.1	.	.	.	.	.	.	.	.	.	.	G	17.50	3.406136	0.62288	2.27E-4	0.0	ENSG00000085415	ENST00000399892	T	0.70282	-0.47	5.7	5.7	0.88788	.	0.470389	0.21867	N	0.067941	D	0.85750	0.5769	.	.	.	0.39374	D	0.966139	D	0.76494	0.999	D	0.80764	0.994	D	0.86855	0.2026	9	0.62326	D	0.03	-15.7489	19.8297	0.96630	0.0:0.0:1.0:0.0	.	392	Q96EE3-1	.	N	392	ENSP00000382779:D392N	ENSP00000382779:D392N	D	+	1	0	SEH1L	12976964	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	5.634000	0.67833	2.697000	0.92050	0.557000	0.71058	GAT		0.527	SEH1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458254.1	NM_031216		7	93	0	0	0	0.00308	0	7	93					A	12986964	G	A	12986964	1	1	294	0	1	0	0	0	0	0	0	0	14009	1058	37	2		2	SEH1L	18	12986964	3'UTR	SNP	G	TCGA-KC-A4BL-01A-31D-A257-08		12986964	65090284	31	14191											
SBSN	374897	broad.mit.edu	37	chr19	36018502	36018502	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgaccggcagcatggtggaTcccctggccaaacttctctg	7	9	11	14	1	1	1	0	1	1	0	3	2	2	2	4	4	2	2	4	4	1	1			TCGA-KC-A4BL-01A-31D-A257-08	TCGA-KC-A4BL-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6a47f6-a38c-4f94-bac9-81fb034fb62d	6e7ac799-87c3-4d22-bad2-57f73e88124f	g.chr19:36018502T>C	ENST00000452271.2	-	1	710	c.682A>G	c.(682-684)Atc>Gtc	p.I228V	SBSN_ENST00000518157.1_Intron	NM_001166034.1	NP_001159506.1	Q6UWP8	SBSN_HUMAN	suprabasin	228	Ala/Gly/His-rich.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)				large_intestine(5)|lung(6)|ovary(1)|prostate(2)	14	all_lung(56;1.62e-08)|Lung NSC(56;2.47e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			GCATGGTGGATCCCCTGGCCA	0.632																																						ENST00000452271.2																			0				large_intestine(5)|lung(6)|ovary(1)|prostate(2)	14						c.(682-684)Atc>Gtc		suprabasin							65	67	66					19																	36018502		692	1591	2283	SO:0001583	missense	374897					extracellular region		g.chr19:36018502T>C	AY358701	CCDS12464.1, CCDS54253.1	19q13.13	2008-02-05							24950	protein-coding gene	gene with protein product		609969				12228223	Standard	NM_198538		Approved	UNQ698, HLAR698	uc002oad.2	Q6UWP8		ENST00000452271.2:c.682A>G	19.37:g.36018502T>C	ENSP00000430242:p.Ile228Val					SBSN_ENST00000518157.1_Intron	p.I228V	NM_001166034.1	NP_001159506.1	Q6UWP8	SBSN_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0724)		1	710	-	all_lung(56;1.62e-08)|Lung NSC(56;2.47e-08)|Esophageal squamous(110;0.162)		101					A8K5J0|E9PBV3	Missense_Mutation	SNP	ENST00000452271.2	37	c.682A>G	CCDS54253.1	.	.	.	.	.	.	.	.	.	.	T	0.012	-1.684891	0.00745	.	.	ENSG00000189001	ENST00000452271	T	0.37235	1.21	4.63	-3.53	0.04667	.	.	.	.	.	T	0.09468	0.0233	N	0.00707	-1.245	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.30822	-0.9965	9	0.26408	T	0.33	.	6.4485	0.21890	0.0:0.42:0.1228:0.4572	.	228	E9PBV3	.	V	228	ENSP00000430242:I228V	ENSP00000430242:I228V	I	-	1	0	SBSN	40710342	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.733000	0.01850	-0.937000	0.03719	-2.320000	0.00252	ATC		0.632	SBSN-002	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000109463.3	NM_198538		3	13	0	0	0	0.009096	0	3	13					C	36018502	T	C	36018502	3	2	294	1	0	0	0	0	1	0	0	0	13864	1435	50	4	1106	4	SBSN	19	36018502	Missense_Mutation	SNP	T	TCGA-KC-A4BL-01A-31D-A257-08		36018502	23110481	32	14192											
ZNF615	284370	broad.mit.edu	37	chr19	52496292	52496292	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccgcagtcactgcatttgtaCggtttctctcctgtgtgaat	6	15	9	11	2	2	1	1	1	1	0	4	1	3	1	2	1	2	4	2	1	2	3	rs146634089		TCGA-KC-A4BL-01A-31D-A257-08	TCGA-KC-A4BL-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6a47f6-a38c-4f94-bac9-81fb034fb62d	6e7ac799-87c3-4d22-bad2-57f73e88124f	g.chr19:52496292C>T	ENST00000602063.1	-	6	2386	c.2037G>A	c.(2035-2037)ccG>ccA	p.P679P	ZNF615_ENST00000598071.1_Silent_p.P690P|ZNF615_ENST00000391795.3_Silent_p.P684P|ZNF615_ENST00000594083.1_Silent_p.P690P|ZNF615_ENST00000376716.5_Silent_p.P679P			Q8N8J6	ZN615_HUMAN	zinc finger protein 615	679					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.P679P(1)|p.P690P(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(5)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	42		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.00142)|OV - Ovarian serous cystadenocarcinoma(262;0.019)		TGCATTTGTACGGTTTCTCTC	0.408																																						ENST00000602063.1																			2	Substitution - coding silent(2)	p.P679P(1)|p.P690P(1)	large_intestine(2)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(5)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	42						c.(2035-2037)ccG>ccA		zinc finger protein 615		C	,	0,4406		0,0,2203	160	155	157		2070,2037	-5.7	0	19	dbSNP_134	157	3,8597	3.0+/-9.4	0,3,4297	no	coding-synonymous,coding-synonymous	ZNF615	NM_001199324.1,NM_198480.3	,	0,3,6500	TT,TC,CC		0.0349,0.0,0.0231	,	690/743,679/732	52496292	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	284370				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52496292C>T	AK096691	CCDS12846.1, CCDS59418.1	19q13.41	2013-01-08						"Zinc fingers, C2H2-type", "-"	24740	protein-coding gene	gene with protein product						12477932	Standard	NM_001199324		Approved	FLJ33710	uc002pyf.2	Q8N8J6		ENST00000602063.1:c.2037G>A	19.37:g.52496292C>T						ZNF615_ENST00000594083.1_Silent_p.P690P|ZNF615_ENST00000376716.5_Silent_p.P679P|ZNF615_ENST00000598071.1_Silent_p.P690P|ZNF615_ENST00000391795.3_Silent_p.P684P	p.P679P			Q8N8J6	ZN615_HUMAN		GBM - Glioblastoma multiforme(134;0.00142)|OV - Ovarian serous cystadenocarcinoma(262;0.019)	6	2386	-		all_neural(266;0.117)	679					B7ZKW9|Q2M2Y6|Q5CZB0|Q6ZMT7|Q6ZRB3	Silent	SNP	ENST00000602063.1	37	c.2037G>A	CCDS12846.1																																																																																				0.408	ZNF615-009	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462391.1	NM_198480		11	185	0	0	0	0.008291	0	11	185					T	52496292	C	T	52496292	2	4	294	1	0	0	0	0	0	0	0	1	18037	523	19	1		1	ZNF615	19	52496292	Silent	SNP	C	TCGA-KC-A4BL-01A-31D-A257-08	16477790	52496292	6632691	33	14193											
LILRA5	353514	broad.mit.edu	37	chr19	54822827	54822827	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cctggaactgcccactggggGtcagctgtgagtccaaggtc	7	8	14	12	0	1	1	1	1	0	0	3	2	2	2	3	4	3	1	3	4	2	0			TCGA-KC-A4BL-01A-31D-A257-08	TCGA-KC-A4BL-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6a47f6-a38c-4f94-bac9-81fb034fb62d	6e7ac799-87c3-4d22-bad2-57f73e88124f	g.chr19:54822827G>A	ENST00000301219.3	-	5	688	c.569C>T	c.(568-570)aCc>aTc	p.T190I	LILRA5_ENST00000446712.3_Missense_Mutation_p.T178I|LILRA5_ENST00000432233.3_Missense_Mutation_p.T190I|AC008984.2_ENST00000507363.1_RNA|LILRA5_ENST00000346508.3_Missense_Mutation_p.T178I	NM_021250.2	NP_067073.1	A6NI73	LIRA5_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 5	190	Ig-like C2-type 2.				innate immune response (GO:0045087)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	20	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		CCCACTGGGGGTCAGCTGTGA	0.597																																						ENST00000301219.3																			0				breast(1)|endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	20						c.(568-570)aCc>aTc		leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 5							54	55	55					19																	54822827		2203	4300	6503	SO:0001583	missense	353514				innate immune response	extracellular region|integral to membrane	receptor activity	g.chr19:54822827G>A	AF212842	CCDS12888.1, CCDS12889.1	19q13.4	2013-01-11	2005-05-13	2005-05-13	ENSG00000187116	ENSG00000187116		"Leukocyte immunoglobulin-like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	16309	protein-coding gene	gene with protein product		606047		LILRB7		10941842	Standard	NM_181986		Approved	ILT11, LIR9, CD85, CD85f	uc002qfe.3	A6NI73	OTTHUMG00000065357	ENST00000301219.3:c.569C>T	19.37:g.54822827G>A	ENSP00000301219:p.Thr190Ile					LILRA5_ENST00000432233.3_Missense_Mutation_p.T190I|AC008984.2_ENST00000507363.1_RNA|LILRA5_ENST00000446712.3_Missense_Mutation_p.T178I|LILRA5_ENST00000346508.3_Missense_Mutation_p.T178I	p.T190I	NM_021250.2	NP_067073.1	A6NI73	LIRA5_HUMAN		GBM - Glioblastoma multiforme(193;0.105)	5	688	-	Ovarian(34;0.19)		190			Ig-like C2-type 2.		A6NHI3	Missense_Mutation	SNP	ENST00000301219.3	37	c.569C>T	CCDS12888.1	.	.	.	.	.	.	.	.	.	.	G	5.588	0.293291	0.10567	.	.	ENSG00000187116	ENST00000301219;ENST00000346508;ENST00000446712;ENST00000432233	T;T;T;T	0.03004	4.08;4.08;4.08;4.08	3.14	-6.28	0.02020	Immunoglobulin-like fold (1);	8.951160	0.00754	U	0.001087	T	0.01940	0.0061	N	0.11560	0.145	0.09310	N	1	B;B;B;B	0.19200	0.021;0.008;0.034;0.001	B;B;B;B	0.21151	0.033;0.017;0.009;0.006	T	0.42120	-0.9470	10	0.21540	T	0.41	.	2.5786	0.04813	0.2525:0.1138:0.4784:0.1553	.	178;190;178;190	A6NI73-4;A6NI73-3;A6NI73-2;A6NI73	.;.;.;LIRA5_HUMAN	I	190;178;178;190	ENSP00000301219:T190I;ENSP00000302948:T178I;ENSP00000389499:T178I;ENSP00000404236:T190I	ENSP00000301219:T190I	T	-	2	0	LILRA5	59514639	0.000000	0.05858	0.000000	0.03702	0.021000	0.10359	-4.454000	0.00231	-1.559000	0.01688	0.205000	0.17691	ACC		0.597	LILRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000140231.1	NM_181985		4	71	0	0	0	0.009096	0	4	71					A	54822827	G	A	54822827	3	1	294	1	0	0	0	0	1	0	0	0	8788	1261	44	3	428	3	LILRA5	19	54822827	Missense_Mutation	SNP	G	TCGA-KC-A4BL-01A-31D-A257-08	2326535	54822827	4306156	34	14194											
ZMYND8	23613	broad.mit.edu	37	chr20	45927599	45927599	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cggtgacaaacccagcagtaGaaatcattccgtccatcctg	12	8	8	13	2	1	2	1	1	0	1	4	2	4	2	4	1	2	2	4	1	3	2			TCGA-KC-A4BL-01A-31D-A257-08	TCGA-KC-A4BL-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6a47f6-a38c-4f94-bac9-81fb034fb62d	6e7ac799-87c3-4d22-bad2-57f73e88124f	g.chr20:45927599G>C	ENST00000311275.7	-	4	520	c.267C>G	c.(265-267)ttC>ttG	p.F89L	ZMYND8_ENST00000461685.1_Missense_Mutation_p.F109L|ZMYND8_ENST00000540497.1_Missense_Mutation_p.F84L|ZMYND8_ENST00000355972.4_Missense_Mutation_p.F89L|ZMYND8_ENST00000446994.2_Missense_Mutation_p.F64L|ZMYND8_ENST00000396281.4_Missense_Mutation_p.F89L|ZMYND8_ENST00000372023.3_Missense_Mutation_p.F84L|ZMYND8_ENST00000262975.4_Missense_Mutation_p.F89L|ZMYND8_ENST00000352431.2_Missense_Mutation_p.F109L|ZMYND8_ENST00000468376.2_5'UTR|ZMYND8_ENST00000458360.2_Missense_Mutation_p.F84L|ZMYND8_ENST00000471951.2_Missense_Mutation_p.F109L|ZMYND8_ENST00000536340.1_Missense_Mutation_p.F116L|ZMYND8_ENST00000360911.3_Missense_Mutation_p.F84L	NM_001281772.1|NM_001281778.1|NM_001281783.1	NP_001268701.1|NP_001268707.1|NP_001268712.1	Q9ULU4	PKCB1_HUMAN	zinc finger, MYND-type containing 8	89					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	nucleus (GO:0005634)	repressing transcription factor binding (GO:0070491)|RNA polymerase II transcription corepressor activity (GO:0001106)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|prostate(3)|skin(2)|urinary_tract(8)	62			Epithelial(1;0.0289)|all cancers(1;0.0962)|OV - Ovarian serous cystadenocarcinoma(1;0.154)			CCCAGCAGTAGAAATCATTCC	0.502																																						ENST00000311275.7																			0				NS(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|prostate(3)|skin(2)|urinary_tract(8)	62						c.(265-267)ttC>ttG		zinc finger, MYND-type containing 8							146	130	135					20																	45927599		2203	4300	6503	SO:0001583	missense	23613						protein binding|zinc ion binding	g.chr20:45927599G>C	U48251	CCDS13404.1, CCDS13405.1, CCDS46613.1, CCDS63300.1, CCDS63301.1, CCDS63304.1, CCDS63306.1, CCDS74738.1	20q13.12	2013-01-28	2007-01-29	2007-01-29	ENSG00000101040	ENSG00000101040		"Zinc fingers, MYND-type", "Zinc fingers, PHD-type"	9397	protein-coding gene	gene with protein product		615713	"protein kinase C binding protein 1"	PRKCBP1			Standard	NM_001281769		Approved	RACK7	uc002xtb.1	Q9ULU4	OTTHUMG00000032667	ENST00000311275.7:c.267C>G	20.37:g.45927599G>C	ENSP00000312237:p.Phe89Leu					ZMYND8_ENST00000536340.1_Missense_Mutation_p.F116L|ZMYND8_ENST00000446994.2_Missense_Mutation_p.F64L|ZMYND8_ENST00000352431.2_Missense_Mutation_p.F109L|ZMYND8_ENST00000461685.1_Missense_Mutation_p.F109L|ZMYND8_ENST00000458360.2_Missense_Mutation_p.F84L|ZMYND8_ENST00000540497.1_Missense_Mutation_p.F84L|ZMYND8_ENST00000468376.2_5'UTR|ZMYND8_ENST00000396281.4_Missense_Mutation_p.F89L|ZMYND8_ENST00000262975.4_Missense_Mutation_p.F89L|ZMYND8_ENST00000355972.4_Missense_Mutation_p.F89L|ZMYND8_ENST00000360911.3_Missense_Mutation_p.F84L|ZMYND8_ENST00000372023.3_Missense_Mutation_p.F84L|ZMYND8_ENST00000471951.2_Missense_Mutation_p.F109L	p.F89L			Q9ULU4	PKCB1_HUMAN	Epithelial(1;0.0289)|all cancers(1;0.0962)|OV - Ovarian serous cystadenocarcinoma(1;0.154)		4	520	-			89					B3KVL2|B7Z2A8|B7Z3E0|B7Z680|B7ZM62|E1P5U5|F5H0X3|H7C0U2|J3KPU3|Q13517|Q2HXV1|Q2HXV2|Q2HXV3|Q2HXV4|Q2HXV7|Q2HXV8|Q2HXV9|Q2HXW0|Q2HXW1|Q2HXW2|Q4JJ94|Q4JJ95|Q5TH09|Q5TH11|Q6MZM1|Q8WXC5|Q9H1F3|Q9H1F4|Q9H1F5|Q9H1L8|Q9H1L9|Q9H2G5|Q9NYN3|Q9UIX6	Missense_Mutation	SNP	ENST00000311275.7	37	c.267C>G		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	31|31	5.076852|5.076852	0.94000|0.94000	.|.	.|.	ENSG00000101040|ENSG00000101040	ENST00000360911;ENST00000311275;ENST00000458360;ENST00000262975;ENST00000471951;ENST00000352431;ENST00000396281;ENST00000536340;ENST00000355972;ENST00000446994;ENST00000461685;ENST00000372023;ENST00000540497;ENST00000435836|ENST00000467200	T;T;T;T;T;T;T;T;T;T;T;T;T;T|.	0.40225|.	1.04;1.04;1.04;1.04;1.04;1.04;1.04;1.04;1.04;1.04;1.04;1.04;1.04;1.04|.	6.11|6.11	6.11|6.11	0.99139|0.99139	Zinc finger, PHD-finger (1);Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, FYVE/PHD-type (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.65923|0.65923	0.2738|0.2738	L|L	0.32530|0.32530	0.975|0.975	0.80722|0.80722	D|D	1|1	P;P;D;D;D;D;P;D;P;P;D;D;D;D;D;D;P;P|.	0.76494|.	0.865;0.917;0.997;0.997;0.959;0.998;0.841;0.999;0.917;0.756;0.999;0.998;0.997;0.997;0.962;0.998;0.865;0.865|.	P;P;D;D;P;D;P;D;P;P;D;D;D;D;D;D;P;P|.	0.87578|.	0.745;0.87;0.989;0.995;0.766;0.995;0.805;0.998;0.87;0.805;0.998;0.989;0.995;0.995;0.935;0.987;0.745;0.745|.	T|T	0.57545|0.57545	-0.7793|-0.7793	10|5	0.37606|.	T|.	0.19|.	-15.8642|-15.8642	20.7342|20.7342	0.99715|0.99715	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	84;116;84;84;109;83;109;89;84;109;109;89;64;84;84;109;84;89|.	B7ZM62;F5H0X3;Q2HXV7;Q2HXV3;Q569J9;Q5JV90;Q9ULU4-7;Q9ULU4-9;Q9ULU4-14;Q9ULU4-12;Q9ULU4-13;Q9ULU4;B3KVL2;Q2HXV9;Q2HXV1;Q9ULU4-8;Q2HXV4;B7Z2A8|.	.;.;.;.;.;.;.;.;.;.;.;PKCB1_HUMAN;.;.;.;.;.;.|.	L|V	84;89;84;89;109;109;89;116;89;64;109;84;84;64|16	ENSP00000354166:F84L;ENSP00000312237:F89L;ENSP00000392964:F84L;ENSP00000262975:F89L;ENSP00000420095:F109L;ENSP00000335537:F109L;ENSP00000379577:F89L;ENSP00000439800:F116L;ENSP00000348246:F89L;ENSP00000396725:F64L;ENSP00000418210:F109L;ENSP00000361093:F84L;ENSP00000443086:F84L;ENSP00000413727:F64L|.	ENSP00000262975:F89L|.	F|L	-|-	3|1	2|2	ZMYND8|ZMYND8	45361006|45361006	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.869000|9.869000	0.99810|0.99810	2.906000|2.906000	0.99361|0.99361	0.655000|0.655000	0.94253|0.94253	TTC|CTA		0.502	ZMYND8-007	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000079596.2	NM_183047		4	85	0	0	0	0.009096	0	4	85					C	45927599	G	C	45927599	3	2	294	1	0	0	0	0	1	0	0	0	17708	933	33	5	3319	5	ZMYND8	20	45927599	Missense_Mutation	SNP	G	TCGA-KC-A4BL-01A-31D-A257-08		45927599	17097921	35	14195											
NEGR1	257194	broad.mit.edu	37	chr1	72241872	72241872	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tacctgatggggagatgtgtCgccaagaaatggaaggctct	11	9	14	7	1	1	3	0	1	1	2	2	5	1	4	2	4	1	1	2	4	4	1			TCGA-KC-A4BN-01A-61D-A257-08	TCGA-KC-A4BN-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef4b8185-9003-4a49-ab6c-84a5c0037837	85328a4c-38dc-48a7-8eed-1b4b4ad9e060	g.chr1:72241872C>T	ENST00000357731.5	-	3	757	c.518G>A	c.(517-519)cGa>cAa	p.R173Q	NEGR1_ENST00000434200.1_Missense_Mutation_p.R171Q|NEGR1_ENST00000467479.1_5'UTR|NEGR1_ENST00000306821.3_Missense_Mutation_p.R45Q	NM_173808.2	NP_776169.2	Q7Z3B1	NEGR1_HUMAN	neuronal growth regulator 1	173	Ig-like C2-type 2.				feeding behavior (GO:0007631)|locomotory behavior (GO:0007626)|positive regulation of neuron projection development (GO:0010976)|single organismal cell-cell adhesion (GO:0016337)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)				endometrium(1)|kidney(4)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32		all_cancers(4;1.26e-06)|Renal(4;1.32e-08)|all_epithelial(4;5.39e-07)|Hepatocellular(141;0.117)		KIRC - Kidney renal clear cell carcinoma(4;0.00529)|Kidney(4;0.00609)|all cancers(265;0.022)|GBM - Glioblastoma multiforme(62;0.0382)|Epithelial(280;0.242)		GGAGATGTGTCGCCAAGAAAT	0.418																																						ENST00000357731.4																			0				endometrium(1)|kidney(4)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32						c.(517-519)cGa>cAa		neuronal growth regulator 1							115	100	105					1																	72241872		2203	4300	6503	SO:0001583	missense	257194				cell adhesion	anchored to membrane|plasma membrane		g.chr1:72241872C>T	AK092307	CCDS661.1	1p31.1	2013-01-11			ENSG00000172260	ENSG00000172260		"Immunoglobulin superfamily / I-set domain containing"	17302	protein-coding gene	gene with protein product	"a kindred of IgLON", "neurotractin", "IgLON family member 4"	613173				10075727	Standard	NM_173808		Approved	KILON, MGC46680, Ntra, IGLON4	uc001dfw.3	Q7Z3B1	OTTHUMG00000009698	ENST00000357731.5:c.518G>A	1.37:g.72241872C>T	ENSP00000350364:p.Arg173Gln					NEGR1_ENST00000306821.3_Missense_Mutation_p.R45Q|NEGR1_ENST00000434200.1_Missense_Mutation_p.R171Q|NEGR1_ENST00000467479.1_5'UTR	p.R173Q	NM_173808.2	NP_776169.2	Q7Z3B1	NEGR1_HUMAN		KIRC - Kidney renal clear cell carcinoma(4;0.00529)|Kidney(4;0.00609)|all cancers(265;0.022)|GBM - Glioblastoma multiforme(62;0.0382)|Epithelial(280;0.242)	3	757	-		all_cancers(4;1.26e-06)|Renal(4;1.32e-08)|all_epithelial(4;5.39e-07)|Hepatocellular(141;0.117)	173			Ig-like C2-type 2.		Q5VT21|Q6UY06|Q8N440|Q8NAQ3	Missense_Mutation	SNP	ENST00000357731.5	37	c.518G>A	CCDS661.1	.	.	.	.	.	.	.	.	.	.	C	25.3	4.629032	0.87560	.	.	ENSG00000172260	ENST00000357731;ENST00000306821;ENST00000434200	T;T;T	0.29917	1.55;1.55;1.55	5.97	5.97	0.96955	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.45776	0.1359	M	0.65677	2.01	0.54753	D	0.999988	D;D	0.61080	0.987;0.989	P;P	0.62491	0.903;0.832	T	0.17167	-1.0378	10	0.45353	T	0.12	-12.0593	19.2102	0.93751	0.0:1.0:0.0:0.0	.	171;173	B4DI94;Q7Z3B1	.;NEGR1_HUMAN	Q	173;45;171	ENSP00000350364:R173Q;ENSP00000305938:R45Q;ENSP00000413294:R171Q	ENSP00000305938:R45Q	R	-	2	0	NEGR1	72014460	1.000000	0.71417	0.999000	0.59377	0.656000	0.38851	4.315000	0.59172	2.836000	0.97738	0.655000	0.94253	CGA		0.418	NEGR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026722.4	NM_173808		3	38	0	0	0	1	0	3	38					T	72241872	C	T	72241872	3	4	295	1	0	0	0	0	1	0	0	0	10317	884	31	2	566	2	NEGR1	1	72241872	Missense_Mutation	SNP	C	TCGA-KC-A4BN-01A-61D-A257-08		72241872	177008749	1	14196											
GNAT2	2780	broad.mit.edu	37	chr1	110146052	110146052	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caaacacaaatttgacattcTgtgtatctgtagcacaggtc	13	12	7	9	0	2	1	0	1	2	0	3	1	2	1	0	1	2	3	0	1	4	4			TCGA-KC-A4BN-01A-61D-A257-08	TCGA-KC-A4BN-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef4b8185-9003-4a49-ab6c-84a5c0037837	85328a4c-38dc-48a7-8eed-1b4b4ad9e060	g.chr1:110146052T>A	ENST00000351050.3	-	8	1175	c.989A>T	c.(988-990)cAg>cTg	p.Q330L		NM_005272.3	NP_005263.1	P19087	GNAT2_HUMAN	guanine nucleotide binding protein (G protein), alpha transducing activity polypeptide 2	330					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|detection of light stimulus involved in visual perception (GO:0050908)|G-protein coupled receptor signaling pathway (GO:0007186)|phototransduction (GO:0007602)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|response to light intensity (GO:0009642)|retinal cone cell development (GO:0046549)|visual perception (GO:0007601)	heterotrimeric G-protein complex (GO:0005834)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|photoreceptor outer segment membrane (GO:0042622)|plasma membrane (GO:0005886)	G-protein beta/gamma-subunit complex binding (GO:0031683)|G-protein coupled photoreceptor activity (GO:0008020)|G-protein coupled receptor binding (GO:0001664)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)	14		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		Lung(183;0.0422)|Colorectal(144;0.108)|Epithelial(280;0.125)|all cancers(265;0.129)|LUSC - Lung squamous cell carcinoma(189;0.227)		TTTGACATTCTGTGTATCTGT	0.403																																						ENST00000351050.3																			0				NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)	14						c.(988-990)cAg>cTg		guanine nucleotide binding protein (G protein), alpha transducing activity polypeptide 2							116	107	110					1																	110146052		2203	4300	6503	SO:0001583	missense	2780				detection of chemical stimulus involved in sensory perception of bitter taste|G-protein signaling, coupled to cAMP nucleotide second messenger|rhodopsin mediated phototransduction	heterotrimeric G-protein complex|photoreceptor inner segment|photoreceptor outer segment membrane	G-protein beta/gamma-subunit complex binding|G-protein coupled photoreceptor activity|G-protein-coupled receptor binding|GTP binding|GTPase activity	g.chr1:110146052T>A	BC000233	CCDS803.1	1p13	2013-01-08			ENSG00000134183	ENSG00000134183			4394	protein-coding gene	gene with protein product		139340				8406495	Standard	NM_005272		Approved	ACHM4	uc001dya.3	P19087	OTTHUMG00000011639	ENST00000351050.3:c.989A>T	1.37:g.110146052T>A	ENSP00000251337:p.Gln330Leu						p.Q330L	NM_005272.3	NP_005263.1	P19087	GNAT2_HUMAN		Lung(183;0.0422)|Colorectal(144;0.108)|Epithelial(280;0.125)|all cancers(265;0.129)|LUSC - Lung squamous cell carcinoma(189;0.227)	8	1175	-		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)	330						Missense_Mutation	SNP	ENST00000351050.3	37	c.989A>T	CCDS803.1	.	.	.	.	.	.	.	.	.	.	T	18.87	3.715197	0.68844	.	.	ENSG00000134183	ENST00000351050	D	0.89123	-2.47	5.48	5.48	0.80851	.	0.107611	0.64402	D	0.000005	D	0.87981	0.6315	M	0.82517	2.595	0.47245	D	0.99936	B	0.32893	0.389	B	0.37015	0.239	D	0.89260	0.3597	10	0.59425	D	0.04	.	15.5478	0.76123	0.0:0.0:0.0:1.0	.	330	P19087	GNAT2_HUMAN	L	330	ENSP00000251337:Q330L	ENSP00000251337:Q330L	Q	-	2	0	GNAT2	109947575	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	6.162000	0.71874	2.205000	0.71048	0.533000	0.62120	CAG		0.403	GNAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032181.1	NM_005272		4	61	0	0	0	1	0	4	61					A	110146052	T	A	110146052	3	1	295	1	0	0	0	0	1	0	0	0	6512	1580	55	5	79	5	GNAT2	1	110146052	Missense_Mutation	SNP	T	TCGA-KC-A4BN-01A-61D-A257-08	37904180	110146052	139104569	2	14197											
NBPF15	284565	broad.mit.edu	37	chr1	148594407	148594407	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttttccaggctctacggcGtgctgatggaagtggaagag	8	10	14	9	2	1	2	0	1	1	1	2	4	2	4	2	4	2	2	2	4	3	3	rs144416833	byFrequency	TCGA-KC-A4BN-01A-61D-A257-08	TCGA-KC-A4BN-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef4b8185-9003-4a49-ab6c-84a5c0037837	85328a4c-38dc-48a7-8eed-1b4b4ad9e060	g.chr1:148594407G>A	ENST00000369187.3	+	19	2269	c.1780G>A	c.(1780-1782)Gtg>Atg	p.V594M	NBPF15_ENST00000442702.2_Missense_Mutation_p.V594M	NM_173638.3	NP_775909.2	Q8N660	NBPFF_HUMAN	neuroblastoma breakpoint family, member 15	594	NBPF 6. {ECO:0000255|PROSITE- ProRule:PRU00647}.					cytoplasm (GO:0005737)				NS(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|skin(2)	12	all_hematologic(923;0.032)					GCTCTACGGCGTGCTGATGGA	0.458													.|||	6	0.00119808	8e-04	0	5008	,	,		18795	0.001		0	False		,,,				2504	0.0041					ENST00000442702.2																			0				NS(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|skin(2)	12						c.(1780-1782)Gtg>Atg		neuroblastoma breakpoint family, member 15		A	MET/VAL,MET/VAL	4,4330		0,4,2163	129	160	150		1780,1780	0.5	0	1	dbSNP_134	150	1,8599		0,1,4299	no	missense,missense	NBPF15	NM_001170755.1,NM_173638.3	21,21	0,5,6462	AA,AG,GG		0.0116,0.0923,0.0387	benign,benign	594/671,594/671	148594407	5,12929	2167	4300	6467	SO:0001583	missense	284565					cytoplasm		g.chr1:148594407G>A	BC023087	CCDS72852.1	1q21.1	2014-01-16			ENSG00000243452	ENSG00000266338		"neuroblastoma breakpoint family"	28791	protein-coding gene	gene with protein product		610414, 614005	"neuroblastoma breakpoint family, member 16"	NBPF16		16079250	Standard	NM_173638		Approved	MGC8902	uc001esc.2	Q8N660	OTTHUMG00000013634	ENST00000369187.3:c.1780G>A	1.37:g.148594407G>A	ENSP00000358188:p.Val594Met					NBPF15_ENST00000369187.3_Missense_Mutation_p.V594M	p.V594M	NM_001170755.1	NP_001164226.1	Q8N660	NBPFF_HUMAN			21	2847	+	all_hematologic(923;0.032)		594			NBPF 6.		Q3BBV9|Q8IX77	Missense_Mutation	SNP	ENST00000369187.3	37	c.1780G>A	CCDS932.1	.	.	.	.	.	.	.	.	.	.	.	3.083	-0.188652	0.06299	9.23E-4	1.16E-4	ENSG00000243452	ENST00000442702;ENST00000369187	T;T	0.06849	3.25;3.25	0.502	0.502	0.16932	DUF1220 (2);	.	.	.	.	T	0.02455	0.0075	L	0.44542	1.39	0.09310	N	1	B	0.26081	0.141	B	0.24155	0.051	T	0.42361	-0.9456	8	0.49607	T	0.09	.	.	.	.	.	594	Q8N660	NBPFF_HUMAN	M	594	ENSP00000416864:V594M;ENSP00000358188:V594M	ENSP00000358188:V594M	V	+	1	0	NBPF15	146861031	0.018000	0.18449	0.002000	0.10522	0.003000	0.03518	-2.111000	0.01333	0.557000	0.29117	0.377000	0.23210	GTG		0.458	NBPF15-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038609.3	NM_173638		13	286	0	0	0	1	0	13	286					A	148594407	G	A	148594407	3	1	295	1	0	0	0	0	1	0	0	0	10195	1145	40	1	1838	1	NBPF15	1	148594407	Missense_Mutation	SNP	G	TCGA-KC-A4BN-01A-61D-A257-08	38448355	148594407	100656214	3	14198											
IFI16	3428	broad.mit.edu	37	chr1	158984677	158984677	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggcaaactaataaaaattttCgaagatataccaacgcttga	18	10	6	7	2	0	2	0	1	0	1	1	3	0	2	1	1	3	2	1	1	9	7	rs144369567	byFrequency	TCGA-KC-A4BN-01A-61D-A257-08	TCGA-KC-A4BN-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef4b8185-9003-4a49-ab6c-84a5c0037837	85328a4c-38dc-48a7-8eed-1b4b4ad9e060	g.chr1:158984677C>T	ENST00000295809.7	+	2	462	c.207C>T	c.(205-207)ttC>ttT	p.F69F	IFI16_ENST00000368132.3_Silent_p.F69F|IFI16_ENST00000430894.2_Silent_p.F73F|IFI16_ENST00000448393.2_Silent_p.F69F|IFI16_ENST00000359709.3_Silent_p.F69F|IFI16_ENST00000368131.4_Silent_p.F69F|IFI16_ENST00000340979.6_Silent_p.F69F			Q16666	IF16_HUMAN	interferon, gamma-inducible protein 16	69	DAPIN. {ECO:0000255|PROSITE- ProRule:PRU00061}.|Lys-rich.				activation of cysteine-type endopeptidase activity (GO:0097202)|activation of innate immune response (GO:0002218)|autophagy (GO:0006914)|cell proliferation (GO:0008283)|cellular response to glucose starvation (GO:0042149)|cellular response to ionizing radiation (GO:0071479)|defense response to virus (GO:0051607)|hemopoiesis (GO:0030097)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|monocyte differentiation (GO:0030224)|myeloid cell differentiation (GO:0030099)|negative regulation of cysteine-type endopeptidase activity (GO:2000117)|negative regulation of DNA binding (GO:0043392)|negative regulation of innate immune response (GO:0045824)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of viral genome replication (GO:0045071)|positive regulation of cytokine production (GO:0001819)|positive regulation of interleukin-1 beta production (GO:0032731)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of autophagy (GO:0010506)|regulation of gene expression, epigenetic (GO:0040029)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	core promoter binding (GO:0001047)|double-stranded DNA binding (GO:0003690)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|transcription factor binding (GO:0008134)			cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_hematologic(112;0.0429)					TAAAAATTTTCGAAGATATAC	0.388													C|||	2	0.000399361	0.0015	0	5008	,	,		17800	0		0	False		,,,				2504	0					ENST00000295809.7																			0				cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(205-207)ttC>ttT		interferon, gamma-inducible protein 16		C	,	7,4399		0,7,2196	70	75	73		207,207	-1.3	0	1	dbSNP_134	73	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	IFI16	NM_001206567.1,NM_005531.2	,	0,7,6496	TT,TC,CC		0.0,0.1589,0.0538	,	69/730,69/730	158984677	7,12999	2203	4300	6503	SO:0001819	synonymous_variant	3428				cell proliferation|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|monocyte differentiation|negative regulation of transcription, DNA-dependent|response to virus|transcription, DNA-dependent	cytoplasm|nuclear speck|nucleolus	double-stranded DNA binding|protein binding	g.chr1:158984677C>T	M63838	CCDS1180.3, CCDS58039.1	1q22	2008-02-05			ENSG00000163565	ENSG00000163565			5395	protein-coding gene	gene with protein product		147586				1526658, 7959953	Standard	NM_005531		Approved	IFNGIP1, PYHIN2	uc010pis.2	Q16666	OTTHUMG00000037108	ENST00000295809.7:c.207C>T	1.37:g.158984677C>T						IFI16_ENST00000359709.3_Silent_p.F69F|IFI16_ENST00000340979.6_Silent_p.F69F|IFI16_ENST00000448393.2_Silent_p.F69F|IFI16_ENST00000430894.2_Silent_p.F73F|IFI16_ENST00000368131.4_Silent_p.F69F|IFI16_ENST00000368132.3_Silent_p.F69F	p.F69F			Q16666	IF16_HUMAN			2	462	+	all_hematologic(112;0.0429)		69			DAPIN.|Lys-rich.		B4DJT8|H3BLV7|Q59GX0|Q5T3W7|Q5T3W8|Q5T3X0|Q5T3X1|Q5T3X2|Q8N9E5|Q8NEQ7|Q96AJ5|Q9UH78	Silent	SNP	ENST00000295809.7	37	c.207C>T																																																																																					0.388	IFI16-013	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000421720.1	NM_005531		18	74	0	0	0	1	0	18	74					T	158984677	C	T	158984677	2	4	295	1	0	0	0	0	0	0	0	1	7511	883	31	2		2	IFI16	1	158984677	Silent	SNP	C	TCGA-KC-A4BN-01A-61D-A257-08	10390270	158984677	90265944	4	14199											
C2orf16	84226	broad.mit.edu	37	chr2	27804618	27804618	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcccgctcggaggagccatCgcagtccctcagagagaagc	9	5	13	14	3	1	2	1	0	0	2	5	5	3	4	3	2	2	2	3	2	1	0			TCGA-KC-A4BN-01A-61D-A257-08	TCGA-KC-A4BN-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef4b8185-9003-4a49-ab6c-84a5c0037837	85328a4c-38dc-48a7-8eed-1b4b4ad9e060	g.chr2:27804618C>A	ENST00000408964.2	+	1	5230	c.5179C>A	c.(5179-5181)Cgc>Agc	p.R1727S	ZNF512_ENST00000556601.1_5'Flank|ZNF512_ENST00000416005.2_5'Flank|ZNF512_ENST00000355467.4_5'Flank|ZNF512_ENST00000379717.1_5'Flank|AC074091.1_ENST00000408604.1_RNA|RP11-158I13.2_ENST00000505973.1_RNA|ZNF512_ENST00000413371.2_5'Flank	NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN	chromosome 2 open reading frame 16	1727	27 X 8 AA approximative tandem repeat of P-S-E-R-S-H-H-S.|Arg-rich.					extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					GAGGAGCCATCGCAGTCCCTC	0.562																																						ENST00000408964.2																			0				breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47						c.(5179-5181)Cgc>Agc		chromosome 2 open reading frame 16							174	180	178					2																	27804618		1937	4136	6073	SO:0001583	missense	84226							g.chr2:27804618C>A	AL136898	CCDS42666.1	2p23.3	2013-09-20			ENSG00000221843	ENSG00000221843			25275	protein-coding gene	gene with protein product	"P-S-E-R-S-H-H-S repeats containing"						Standard	NM_032266		Approved	DKFZp434G118	uc002rkz.4	Q68DN1	OTTHUMG00000159099	ENST00000408964.2:c.5179C>A	2.37:g.27804618C>A	ENSP00000386190:p.Arg1727Ser						p.R1727S	NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN			1	5230	+	Acute lymphoblastic leukemia(172;0.155)		1727			27 X 8 AA approximative tandem repeat of P-S-E-R-S-H-H-S.|Arg-rich.		B9EIQ4|Q53S01|Q8ND64|Q9H088	Missense_Mutation	SNP	ENST00000408964.2	37	c.5179C>A	CCDS42666.1	.	.	.	.	.	.	.	.	.	.	C	12.39	1.924234	0.34002	.	.	ENSG00000221843	ENST00000408964	T	0.04862	3.54	3.95	3.95	0.45737	.	.	.	.	.	T	0.07052	0.0179	L	0.39898	1.24	0.09310	N	1	P	0.37573	0.6	B	0.34991	0.193	T	0.28138	-1.0053	9	0.33141	T	0.24	.	14.296	0.66314	0.0:1.0:0.0:0.0	.	1727	Q68DN1	CB016_HUMAN	S	1727	ENSP00000386190:R1727S	ENSP00000386190:R1727S	R	+	1	0	C2orf16	27658122	0.000000	0.05858	0.004000	0.12327	0.002000	0.02628	-0.313000	0.08103	2.491000	0.84063	0.462000	0.41574	CGC		0.562	C2orf16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353292.1	NM_032266		9	276	1	0	1.12685e-05	1	1.1962e-05	9	276					A	27804618	C	A	27804618	3	1	295	1	0	0	0	0	1	0	0	0	2157	884	31	5	5181	5	C2orf16	2	27804618	Missense_Mutation	SNP	C	TCGA-KC-A4BN-01A-61D-A257-08		27804618	215394755	5	14200											
VCAN	1462	broad.mit.edu	37	chr5	82833276	82833276	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agttacatggaagcctgagaCttaccctgaaacatcagaac	15	8	8	10	0	1	3	1	2	0	2	1	5	1	4	2	1	5	1	2	1	5	2			TCGA-KC-A4BN-01A-61D-A257-08	TCGA-KC-A4BN-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef4b8185-9003-4a49-ab6c-84a5c0037837	85328a4c-38dc-48a7-8eed-1b4b4ad9e060	g.chr5:82833276C>T	ENST00000265077.3	+	8	5019	c.4454C>T	c.(4453-4455)aCt>aTt	p.T1485I	VCAN_ENST00000502527.2_Intron|VCAN-AS1_ENST00000512090.1_RNA|VCAN_ENST00000512590.2_Intron|VCAN_ENST00000513016.1_3'UTR|VCAN_ENST00000342785.4_Intron|VCAN_ENST00000343200.5_Missense_Mutation_p.T498I	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	1485	GAG-beta.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|cell recognition (GO:0008037)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|heart development (GO:0007507)|multicellular organismal development (GO:0007275)|osteoblast differentiation (GO:0001649)|small molecule metabolic process (GO:0044281)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|glycosaminoglycan binding (GO:0005539)|hyaluronic acid binding (GO:0005540)			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	Hyaluronan(DB08818)	AAGCCTGAGACTTACCCTGAA	0.423																																						ENST00000265077.3																			0				NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190						c.(4453-4455)aCt>aTt		versican							80	77	78					5																	82833276		2203	4300	6503	SO:0001583	missense	1462				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding	g.chr5:82833276C>T	X15998	CCDS4060.1, CCDS47242.1, CCDS54875.1, CCDS54876.1	5q14.2-q14.3	2013-05-07	2007-02-15	2007-02-15	ENSG00000038427	ENSG00000038427		"Immunoglobulin superfamily / V-set domain containing", "Proteoglycans / Extracellular Matrix : Hyalectans"	2464	protein-coding gene	gene with protein product	"versican proteoglycan"	118661	"chondroitin sulfate proteoglycan 2"	CSPG2		1478664, 21063030	Standard	NM_004385		Approved	PG-M	uc003kii.3	P13611	OTTHUMG00000131321	ENST00000265077.3:c.4454C>T	5.37:g.82833276C>T	ENSP00000265077:p.Thr1485Ile					VCAN_ENST00000512590.2_Intron|VCAN_ENST00000343200.5_Missense_Mutation_p.T498I|VCAN_ENST00000342785.4_Intron|VCAN_ENST00000502527.2_Intron|VCAN-AS1_ENST00000512090.1_RNA|VCAN_ENST00000513016.1_3'UTR	p.T1485I	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	8	5019	+		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)	1485			GAG-beta.		P20754|Q13010|Q13189|Q15123|Q9UCL9|Q9UNW5	Missense_Mutation	SNP	ENST00000265077.3	37	c.4454C>T	CCDS4060.1	.	.	.	.	.	.	.	.	.	.	C	3.749	-0.051910	0.07362	.	.	ENSG00000038427	ENST00000265077;ENST00000343200;ENST00000513960	D;D;T	0.84660	-1.87;-1.88;3.26	6.17	0.0481	0.14283	.	0.615410	0.16106	N	0.229329	T	0.70535	0.3235	N	0.13327	0.33	0.09310	N	1	B;B	0.14438	0.01;0.006	B;B	0.13407	0.009;0.004	T	0.56890	-0.7904	10	0.31617	T	0.26	.	10.7956	0.46459	0.0:0.6147:0.0:0.3853	.	498;1485	P13611-2;P13611	.;CSPG2_HUMAN	I	1485;498;498	ENSP00000265077:T1485I;ENSP00000340062:T498I;ENSP00000426251:T498I	ENSP00000265077:T1485I	T	+	2	0	VCAN	82869032	0.001000	0.12720	0.034000	0.17996	0.858000	0.48976	-0.172000	0.09868	0.134000	0.18681	-0.136000	0.14681	ACT		0.423	VCAN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254092.3	NM_004385		4	68	0	0	0	1	0	4	68					T	82833276	C	T	82833276	3	4	295	1	0	0	0	0	1	0	0	0	17135	565	20	3	4480	3	VCAN	5	82833276	Missense_Mutation	SNP	C	TCGA-KC-A4BN-01A-61D-A257-08		82833276	98081984	6	14201											
ZNF354B	117608	broad.mit.edu	37	chr5	178310629	178310629	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gaatgtgggagagccttcagCcagagtgcctctcttattca	9	11	11	10	0	3	2	2	0	1	2	4	4	3	2	3	1	3	0	3	1	2	3			TCGA-KC-A4BN-01A-61D-A257-08	TCGA-KC-A4BN-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef4b8185-9003-4a49-ab6c-84a5c0037837	85328a4c-38dc-48a7-8eed-1b4b4ad9e060	g.chr5:178310629C>T	ENST00000322434.3	+	5	1402	c.1176C>T	c.(1174-1176)agC>agT	p.S392S	RNU1-39P_ENST00000383897.1_RNA	NM_058230.2	NP_478137.1	Q96LW1	Z354B_HUMAN	zinc finger protein 354B	392					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|kidney(2)|large_intestine(7)|liver(2)|lung(2)|ovary(2)|stomach(3)|urinary_tract(1)	21	all_cancers(89;0.000639)|all_epithelial(37;0.000109)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GAGCCTTCAGCCAGAGTGCCT	0.423																																						ENST00000322434.3																			0				breast(2)|kidney(2)|large_intestine(7)|liver(2)|lung(2)|ovary(2)|stomach(3)|urinary_tract(1)	21						c.(1174-1176)agC>agT		zinc finger protein 354B																																				SO:0001819	synonymous_variant	117608				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr5:178310629C>T	AK057737	CCDS4439.1	5q35.3	2013-01-08			ENSG00000178338	ENSG00000178338		"Zinc fingers, C2H2-type", "-"	17197	protein-coding gene	gene with protein product							Standard	NM_058230		Approved	KID2, FLJ25008	uc003mjl.3	Q96LW1	OTTHUMG00000130896	ENST00000322434.3:c.1176C>T	5.37:g.178310629C>T							p.S392S	NM_058230.2	NP_478137.1	Q96LW1	Z354B_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		5	1402	+	all_cancers(89;0.000639)|all_epithelial(37;0.000109)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	392					A8K0V2|Q5U5Z4	Silent	SNP	ENST00000322434.3	37	c.1176C>T	CCDS4439.1																																																																																				0.423	ZNF354B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253482.1	NM_058230		4	70	0	0	0	1	0	4	70					T	178310629	C	T	178310629	2	4	295	1	0	0	0	0	0	0	0	1	17862	738	26	3		3	ZNF354B	5	178310629	Silent	SNP	C	TCGA-KC-A4BN-01A-61D-A257-08	95477353	178310629	2604631	7	14202											
FAM65B	9750	broad.mit.edu	37	chr6	24848254	24848254	+	Splice_Site	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gaaattacactgaacttacaAagaaggagtggtctttgaag	16	10	10	5	0	1	3	0	2	1	1	1	5	1	4	0	2	3	0	0	2	7	3			TCGA-KC-A4BN-01A-61D-A257-08	TCGA-KC-A4BN-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef4b8185-9003-4a49-ab6c-84a5c0037837	85328a4c-38dc-48a7-8eed-1b4b4ad9e060	g.chr6:24848254A>C	ENST00000259698.4	-	12	1251	c.1076T>G	c.(1075-1077)tTt>tGt	p.F359C	FAM65B_ENST00000510784.2_Splice_Site_p.F393C|FAM65B_ENST00000538035.1_Splice_Site_p.F388C|FAM65B_ENST00000540914.1_Splice_Site_p.F359C|FAM65B_ENST00000378023.4_Splice_Site_p.F359C	NM_014722.2	NP_055537.2	Q9Y4F9	FA65B_HUMAN	family with sequence similarity 65, member B	359					cell differentiation (GO:0030154)|muscle organ development (GO:0007517)	cell projection (GO:0042995)|cytoskeleton (GO:0005856)|mitochondrion (GO:0005739)				breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	25						TGAACTTACAAAGAAGGAGTG	0.507																																						ENST00000259698.4																			0				breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	25						c.e12+1		family with sequence similarity 65, member B							103	98	100					6																	24848254		1910	4136	6046	SO:0001630	splice_region_variant	9750				cell differentiation|muscle organ development	cytoskeleton|filopodium|mitochondrion	binding	g.chr6:24848254A>C	U49187	CCDS47383.1, CCDS47384.1, CCDS69057.1, CCDS69058.1, CCDS75410.1	6p22.3-p21.32	2012-11-30	2008-06-13	2008-06-13	ENSG00000111913	ENSG00000111913			13872	protein-coding gene	gene with protein product	"myogenesis-related and NCAM-associated protein homolog (chicken)"	611410	"chromosome 6 open reading frame 32"	C6orf32		9205841, 17150207, 17825087	Standard	NM_001286447		Approved	KIAA0386, DIFF48, MYONAP	uc003neo.1	Q9Y4F9	OTTHUMG00000014375	ENST00000259698.4:c.1077+1T>G	6.37:g.24848254A>C						FAM65B_ENST00000510784.2_Splice_Site_p.F393_splice|FAM65B_ENST00000538035.1_Splice_Site_p.F388_splice|FAM65B_ENST00000378023.4_Splice_Site_p.F359_splice|FAM65B_ENST00000540914.1_Splice_Site_p.F359_splice	p.F359_splice	NM_014722.2	NP_055537.2	Q9Y4F9	FA65B_HUMAN			12	1251	-			359					A6NHP2|Q13529|Q5VV37|Q5VV38|Q9BQ28	Splice_Site	SNP	ENST00000259698.4	37	c.1077_splice	CCDS47383.1	.	.	.	.	.	.	.	.	.	.	A	24.0	4.479524	0.84747	.	.	ENSG00000111913	ENST00000259698;ENST00000538035;ENST00000378023;ENST00000540914;ENST00000510784	T;T;T;T;T	0.02050	4.48;4.48;4.48;4.48;4.48	5.48	5.48	0.80851	.	0.000000	0.85682	D	0.000000	T	0.06234	0.0161	L	0.60455	1.87	0.44492	D	0.997438	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.999;0.999	T	0.16482	-1.0401	10	0.66056	D	0.02	-20.0132	15.5798	0.76425	1.0:0.0:0.0:0.0	.	393;388;359;359	B7Z6U4;F5GX51;Q9Y4F9-2;Q9Y4F9	.;.;.;FA65B_HUMAN	C	359;388;359;359;393	ENSP00000259698:F359C;ENSP00000441138:F388C;ENSP00000367262:F359C;ENSP00000438425:F359C;ENSP00000441305:F393C	ENSP00000259698:F359C	F	-	2	0	FAM65B	24956233	1.000000	0.71417	0.997000	0.53966	0.996000	0.88848	8.957000	0.93082	2.064000	0.61679	0.460000	0.39030	TTT		0.507	FAM65B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040024.2		Missense_Mutation	16	44	0	0	0	1	0	16	44					C	24848254	A	C	24848254	5	2	295	1	0	0	0	0	0	0	1	0	5600	28	1	5	2188	5	FAM65B	6	24848254	Splice_Site	SNP	A	TCGA-KC-A4BN-01A-61D-A257-08		24848254	146266813	8	14203											
LPA	4018	broad.mit.edu	37	chr6	161027631	161027631	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acctgacactgggatccctcGtataacaataaggggctgcc	11	8	10	12	1	0	1	0	1	0	0	2	2	1	2	3	3	2	2	3	3	4	3	rs546612209		TCGA-KC-A4BN-01A-61D-A257-08	TCGA-KC-A4BN-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef4b8185-9003-4a49-ab6c-84a5c0037837	85328a4c-38dc-48a7-8eed-1b4b4ad9e060	g.chr6:161027631G>A	ENST00000316300.5	-	17	2707	c.2663C>T	c.(2662-2664)aCg>aTg	p.T888M	LPA_ENST00000447678.1_Missense_Mutation_p.T888M			P08519	APOA_HUMAN	lipoprotein, Lp(a)	3396	Kringle 8. {ECO:0000255|PROSITE- ProRule:PRU00121}.				blood circulation (GO:0008015)|lipid metabolic process (GO:0006629)|lipid transport (GO:0006869)|lipoprotein metabolic process (GO:0042157)|negative regulation of endopeptidase activity (GO:0010951)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|plasma lipoprotein particle (GO:0034358)	apolipoprotein binding (GO:0034185)|endopeptidase inhibitor activity (GO:0004866)|fibronectin binding (GO:0001968)|heparin binding (GO:0008201)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	GGGATCCCTCGTATAACAATA	0.522													G|||	1	0.000199681	0	0.0014	5008	,	,		15266	0		0	False		,,,				2504	0					ENST00000447678.1																			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107						c.(2662-2664)aCg>aTg		lipoprotein, Lp(a)	Aminocaproic Acid(DB00513)						124	129	128					6																	161027631		2110	4276	6386	SO:0001583	missense	4018				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity	g.chr6:161027631G>A	X06290	CCDS43523.1	6q25-q26	2012-10-02			ENSG00000198670	ENSG00000198670			6667	protein-coding gene	gene with protein product		152200		LP		3670400	Standard	NM_005577		Approved		uc003qtl.3	P08519	OTTHUMG00000015956	ENST00000316300.5:c.2663C>T	6.37:g.161027631G>A	ENSP00000321334:p.Thr888Met					LPA_ENST00000316300.5_Missense_Mutation_p.T888M	p.T888M	NM_005577.2	NP_005568.2	P08519	APOA_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	18	2783	-		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)	3396			Kringle 8.		Q5VTD7|Q9UD88	Missense_Mutation	SNP	ENST00000316300.5	37	c.2663C>T	CCDS43523.1	.	.	.	.	.	.	.	.	.	.	g	9.323	1.058609	0.19987	.	.	ENSG00000198670	ENST00000316300;ENST00000447678	T;T	0.70986	-0.53;-0.53	2.18	2.18	0.27775	Kringle (4);Kringle-like fold (1);	.	.	.	.	D	0.86460	0.5938	H	0.99555	4.625	0.21220	N	0.999755	D	0.76494	0.999	D	0.83275	0.996	T	0.75465	-0.3308	9	0.87932	D	0	.	7.8483	0.29440	0.0:0.0:1.0:0.0	.	3396	P08519	APOA_HUMAN	M	888	ENSP00000321334:T888M;ENSP00000395608:T888M	ENSP00000321334:T888M	T	-	2	0	LPA	160947621	1.000000	0.71417	0.148000	0.22405	0.136000	0.21042	4.259000	0.58828	1.215000	0.43411	0.184000	0.17185	ACG		0.522	LPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042957.1	NM_005577		45	182	0	0	0	1	0	45	182					A	161027631	G	A	161027631	3	1	295	1	0	0	0	0	1	0	0	0	8903	1145	40	1	3551	1	LPA	6	161027631	Missense_Mutation	SNP	G	TCGA-KC-A4BN-01A-61D-A257-08	136179377	161027631	10087436	9	14204											
EMID2	136227	broad.mit.edu	37	chr7	101183330	101183330	+	RNA	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaaggcccacgggcccagccGgtgagtgagggctgcagaga	9	3	18	11	2	0	3	0	2	0	1	0	5	0	3	3	4	2	2	3	4	1	0	rs201464621	byFrequency	TCGA-KC-A4BN-01A-61D-A257-08	TCGA-KC-A4BN-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef4b8185-9003-4a49-ab6c-84a5c0037837	85328a4c-38dc-48a7-8eed-1b4b4ad9e060	g.chr7:101183330G>A	ENST00000397927.3	+	0	817				COL26A1_ENST00000528707.1_RNA|COL26A1_ENST00000313669.7_RNA	NM_001278563.1	NP_001265492.1	Q96A83	COQA1_HUMAN	collagen, type XXVI, alpha 1						collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)											GGGCCCAGCCGGTGAGTGAGG	0.662													G|||	2	0.000399361	0	0.0029	5008	,	,		17019	0		0	False		,,,				2504	0					ENST00000313669.7																			0													collagen, type XXVI, alpha 1		G	ARG/GLY	1,3947		0,1,1973	21	26	24		598	4	0.8	7		24	18,8322		0,18,4152	yes	missense-near-splice	EMID2	NM_133457.2	125	0,19,6125	AA,AG,GG		0.2158,0.0253,0.1546	probably-damaging	200/440	101183330	19,12269	1974	4170	6144			136227							g.chr7:101183330G>A	AJ416091	CCDS64739.1	7q22.1	2013-01-16	2013-01-16	2013-01-16	ENSG00000160963	ENSG00000160963		"Collagens", "EMI domain containing"	18038	protein-coding gene	gene with protein product	"Emu2 gene"	608927	"EMI domain containing 2"	EMID2		12221002, 12145293	Standard	NM_001278563		Approved	Emu2, EMI6	uc003uyo.1	Q96A83	OTTHUMG00000150033		7.37:g.101183330G>A						COL26A1_ENST00000397927.3_RNA|COL26A1_ENST00000528707.1_RNA		NM_133457.2	NP_597714.2					0	796	+								Q32M90	RNA	SNP	ENST00000397927.3	37			.	.	.	.	.	.	.	.	.	.	G	14.52	2.561064	0.45590	2.53E-4	0.002158	ENSG00000160963	ENST00000313669	D	0.98807	-5.15	4.87	3.98	0.46160	.	0.122741	0.36482	N	0.002569	D	0.99345	0.9770	H	0.96662	3.86	0.27065	N	0.963466	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.96472	0.9349	10	0.87932	D	0	.	10.575	0.45223	0.0:0.0:0.8072:0.1928	.	202;202	Q96A83;C9JPW4	EMID2_HUMAN;.	R	202	ENSP00000318234:G202R	ENSP00000318234:G202R	G	+	1	0	EMID2	100970050	1.000000	0.71417	0.794000	0.32065	0.135000	0.20990	5.347000	0.65998	1.029000	0.39812	0.549000	0.68633	GGG		0.662	COL26A1-002	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000315898.2	NM_133457		3	39	0	0	0	1	0	3	39					A	101183330	G	A	101183330	1	1	295	0	1	0	0	0	0	0	0	0	5092	1130	39	2		2	EMID2	7	101183330	RNA	SNP	G	TCGA-KC-A4BN-01A-61D-A257-08		101183330	57955333	10	14205											
BRAF	673	broad.mit.edu	37	chr7	140453145	140453145	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atcgagatttcactgtagctAgaccaaaatcacctattttt	13	14	5	9	1	2	2	2	0	0	2	3	3	2	2	2	0	1	2	2	0	5	6	rs121913366|rs121913368		TCGA-KC-A4BN-01A-61D-A257-08	TCGA-KC-A4BN-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef4b8185-9003-4a49-ab6c-84a5c0037837	85328a4c-38dc-48a7-8eed-1b4b4ad9e060	g.chr7:140453145A>C	ENST00000288602.6	-	15	1850	c.1790T>G	c.(1789-1791)cTa>cGa	p.L597R		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	597	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		L -> R (in LNCR; also found in an ovarian serous carcinoma sample; somatic mutation). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12460919, ECO:0000269|PubMed:17344846}.|L -> V (in NS7; also in a lung adenocarcinoma sample; somatic mutation; elevated kinase activity; efficiently induces cell transformation). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:19206169}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.L597R(14)|p.L597S(9)|p.L597Q(8)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	CACTGTAGCTAGACCAAAATC	0.383		61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	ENST00000288602.6		61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	31	Substitution - Missense(31)	p.L597R(14)|p.L597S(9)|p.L597Q(8)	skin(18)|lung(4)|ovary(4)|large_intestine(3)|NS(1)|prostate(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1789-1791)cTa>cGa		v-raf murine sarcoma viral oncogene homolog B	Sorafenib(DB00398)						109	102	105					7																	140453145		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453145A>C	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1790T>G	7.37:g.140453145A>C	ENSP00000288602:p.Leu597Arg						p.L597R	NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN			15	1850	-	Melanoma(164;0.00956)		597		L -> R (in LNCR; also found in an ovarian serous carcinoma sample; somatic mutation).|L -> V (in NS7; also in a lung adenocarcinoma sample; somatic mutation; elevated kinase activity; efficiently induces cell transformation).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1790T>G	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	26.0|26.0	4.691286|4.691286	0.88735|0.88735	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.91351|.	-2.83|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|.	0.88388|.	0.6423|.	H|H	0.97707|0.97707	4.06|4.06	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.97110|.	1.0|.	D|.	0.92473|.	0.5987|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	597|.	P15056|.	BRAF_HUMAN|.	R|E	597|205	ENSP00000288602:L597R|.	ENSP00000288602:L597R|.	L|X	-|-	2|1	0|0	BRAF|BRAF	140099614|140099614	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	CTA|TAG		0.383	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		5	92	0	0	0	1	0	5	92					C	140453145	A	C	140453145	3	2	295	1	0	0	0	0	1	0	0	0	1496	420	15	5	526	5	BRAF	7	140453145	Missense_Mutation	SNP	A	TCGA-KC-A4BN-01A-61D-A257-08	39269815	140453145	18685518	11	14206											
TP53INP1	94241	broad.mit.edu	37	chr8	95952351	95952351	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gccaagcactcaagagatgcCggtaaacaggaaaagactga	17	4	11	9	1	1	3	1	1	0	2	1	5	1	4	2	2	3	2	2	2	6	1	rs141483665	byFrequency	TCGA-KC-A4BN-01A-61D-A257-08	TCGA-KC-A4BN-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef4b8185-9003-4a49-ab6c-84a5c0037837	85328a4c-38dc-48a7-8eed-1b4b4ad9e060	g.chr8:95952351C>T	ENST00000342697.4	-	3	617	c.210G>A	c.(208-210)ccG>ccA	p.P70P	TP53INP1_ENST00000378776.4_Silent_p.P70P|NDUFAF6_ENST00000396113.1_Intron|TP53INP1_ENST00000448464.2_Silent_p.P70P	NM_033285.3	NP_150601.1	Q96A56	T53I1_HUMAN	tumor protein p53 inducible nuclear protein 1	70					apoptotic process (GO:0006915)|autophagic cell death (GO:0048102)|autophagy (GO:0006914)|cell cycle arrest (GO:0007050)|cellular response to ethanol (GO:0071361)|cellular response to hydroperoxide (GO:0071447)|cellular response to methyl methanesulfonate (GO:0072703)|cellular response to UV (GO:0034644)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of autophagy (GO:0010508)|positive regulation of transcription, DNA-templated (GO:0045893)|response to heat (GO:0009408)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	autophagic vacuole (GO:0005776)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|nucleus (GO:0005634)	antioxidant activity (GO:0016209)			kidney(2)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	9	Breast(36;8.75e-07)					CAAGAGATGCCGGTAAACAGG	0.473													C|||	19	0.00379393	0	0	5008	,	,		21444	0.0188		0	False		,,,				2504	0					ENST00000342697.4																			0				kidney(2)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	9						c.(208-210)ccG>ccA		tumor protein p53 inducible nuclear protein 1		C	,	0,4406		0,0,2203	110	117	115		210,210	-3.1	0.7	8	dbSNP_134	115	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	TP53INP1	NM_001135733.1,NM_033285.3	,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,	70/165,70/241	95952351	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0				apoptosis	PML body		g.chr8:95952351C>T	AF409115	CCDS6265.1, CCDS47899.1	8q22	2004-03-11				ENSG00000164938			18022	protein-coding gene	gene with protein product		606185				11511362, 12438758	Standard	NM_033285		Approved	DKFZp434M1317, FLJ22139, P53DINP1, SIP, TP53INP1A, TP53INP1B, Teap	uc003yhg.3	Q96A56		ENST00000342697.4:c.210G>A	8.37:g.95952351C>T						TP53INP1_ENST00000378776.4_Silent_p.P70P|NDUFAF6_ENST00000396113.1_Intron|TP53INP1_ENST00000448464.2_Silent_p.P70P	p.P70P	NM_033285.3	NP_150601.1	Q96A56	T53I1_HUMAN			3	617	-	Breast(36;8.75e-07)		70					B2RCE5|Q969R9	Silent	SNP	ENST00000342697.4	37	c.210G>A	CCDS6265.1																																																																																				0.473	TP53INP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379818.1			3	33	0	0	0	1	0	3	33					T	95952351	C	T	95952351	2	4	295	1	0	0	0	0	0	0	0	1	16385	639	23	2		2	TP53INP1	8	95952351	Silent	SNP	C	TCGA-KC-A4BN-01A-61D-A257-08		95952351	50411671	12	14207											
RIMS2	9699	broad.mit.edu	37	chr8	104934014	104934014	+	Splice_Site	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cttatcaggacaactttcagTatgtagtcattacgtttact	11	16	6	8	1	3	0	3	0	0	0	3	1	3	1	0	1	3	3	0	1	6	7			TCGA-KC-A4BN-01A-61D-A257-08	TCGA-KC-A4BN-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef4b8185-9003-4a49-ab6c-84a5c0037837	85328a4c-38dc-48a7-8eed-1b4b4ad9e060	g.chr8:104934014T>A	ENST00000436393.2	+	8	1771		c.e8+2		RIMS2_ENST00000262231.10_Splice_Site|RIMS2_ENST00000406091.3_Splice_Site|RIMS2_ENST00000507740.1_Splice_Site			Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2						calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cAMP-mediated signaling (GO:0019933)|insulin secretion (GO:0030073)|intracellular protein transport (GO:0006886)|positive regulation of gene expression (GO:0010628)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|regulation of exocytosis (GO:0017157)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	metal ion binding (GO:0046872)			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			CAACTTTCAGTATGTAGTCAT	0.338										HNSCC(12;0.0054)																												ENST00000507740.1																			0				NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144						c.e8+2		regulating synaptic membrane exocytosis 2							129	115	119					8																	104934014		1848	4087	5935	SO:0001630	splice_region_variant	9699				intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding	g.chr8:104934014T>A	AB018294	CCDS43761.1, CCDS64948.1, CCDS64949.1	8q22.3	2008-08-08	2002-06-12	2002-06-14					17283	protein-coding gene	gene with protein product		606630	"RAB3 interacting protein 3"	RAB3IP3		9872452, 12578829	Standard	NM_014677		Approved	KIAA0751, RIM2, OBOE	uc003ylp.3	Q9UQ26		ENST00000436393.2:c.1530+2T>A	8.37:g.104934014T>A		HNSCC(12;0.0054)				RIMS2_ENST00000436393.2_Splice_Site|RIMS2_ENST00000262231.10_Splice_Site|RIMS2_ENST00000406091.3_Splice_Site		NM_014677.4	NP_055492.3	Q9UQ26	RIMS2_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)		8	1856	+								B3KX91|F8WD47|O43413|Q86XL9|Q8IWV9|Q8IWW1	Splice_Site	SNP	ENST00000436393.2	37			.	.	.	.	.	.	.	.	.	.	T	26.4	4.732678	0.89482	.	.	ENSG00000176406	ENST00000504942;ENST00000329869;ENST00000406091;ENST00000402998;ENST00000515551;ENST00000262231;ENST00000507740;ENST00000408894;ENST00000436393	.	.	.	5.85	5.85	0.93711	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.2291	0.82321	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	RIMS2	105003190	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.966000	0.87956	2.238000	0.73509	0.528000	0.53228	.		0.338	RIMS2-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000367217.1	NM_001100117	Intron	7	47	0	0	0	1	0	7	47					A	104934014	T	A	104934014	5	1	295	1	0	0	0	0	0	0	1	0	13368	1652	57	5	2362	5	RIMS2	8	104934014	Splice_Site	SNP	T	TCGA-KC-A4BN-01A-61D-A257-08	8981663	104934014	41430008	13	14208											
TUBB8	347688	broad.mit.edu	37	chr10	93834	93835	+	Frame_Shift_Del	DEL	TG	TG	-																															ggcgagggcaggatgctgaaTgtgtttatgatcctgtctgg																										TCGA-KC-A4BN-01A-61D-A257-08	TCGA-KC-A4BN-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef4b8185-9003-4a49-ab6c-84a5c0037837	85328a4c-38dc-48a7-8eed-1b4b4ad9e060	g.chr10:93834_93835delTG	ENST00000309812.4	-	4	559_560	c.497_498delCA	c.(496-498)acafs	p.T166fs	TUBB8_ENST00000413237.3_5'UTR|TUBB8_ENST00000332708.5_3'UTR|TUBB8_ENST00000447903.2_Frame_Shift_Del_p.T94fs	NM_177987.2	NP_817124.1	Q3ZCM7	TBB8_HUMAN	tubulin, beta 8 class VIII	166					microtubule-based process (GO:0007017)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(12)|ovary(2)|prostate(3)|skin(3)|stomach(1)	32		all_cancers(4;0.00131)|all_lung(4;0.000777)|Lung NSC(4;0.0043)|all_epithelial(10;0.0154)|Colorectal(49;0.235)		Epithelial(11;0.00341)|all cancers(11;0.00922)|OV - Ovarian serous cystadenocarcinoma(14;0.0508)|Lung(33;0.132)		GGATGCTGAATGTGTTTATGAT	0.584																																					Pancreas(192;2041 3010 9013 18103)	ENST00000447903.2																			0				NS(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(12)|ovary(2)|prostate(3)|skin(3)|stomach(1)	32						c.(280-282)afs		tubulin, beta 8 class VIII																																				SO:0001589	frameshift_variant	347688				microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity	g.chr10:93834_93835delTG	AF355127	CCDS7051.1	10p15.3	2014-05-06			ENSG00000173876			"Tubulins"	20773	protein-coding gene	gene with protein product	"class VIII beta-tubulin"						Standard	NM_177987		Approved	bA631M21.2	uc001ifi.2	Q3ZCM7	OTTHUMG00000174803	ENST00000309812.4:c.497_498delCA	10.37:g.93836_93837delTG	ENSP00000311042:p.Thr166fs					TUBB8_ENST00000309812.4_Frame_Shift_Del_p.T166fs|TUBB8_ENST00000332708.5_3'UTR|TUBB8_ENST00000413237.3_5'UTR	p.T94fs			Q3ZCM7	TBB8_HUMAN		Epithelial(11;0.00341)|all cancers(11;0.00922)|OV - Ovarian serous cystadenocarcinoma(14;0.0508)|Lung(33;0.132)	4	596_597	-		all_cancers(4;0.00131)|all_lung(4;0.000777)|Lung NSC(4;0.0043)|all_epithelial(10;0.0154)|Colorectal(49;0.235)	166					Q5SQX9|Q8WZ78	Frame_Shift_Del	DEL	ENST00000309812.4	37	c.281_282delCA	CCDS7051.1																																																																																				0.584	TUBB8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467795.1	NM_177987		8	199						8	199	---	---	---	---	-	93835	TG	-	93834	7	5	295	1	0	1	0	1	0	0	0	0	16758	1451	51	0	840	0	TUBB8	10	93834	Frame_Shift_Del	DEL	TG	TCGA-KC-A4BN-01A-61D-A257-08		93834	135440913	14	14209											
MYO3A	53904	broad.mit.edu	37	chr10	26465766	26465766	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acgagtttcttctcagcagtGcctctcaggtaaaaatcagt	11	12	8	10	1	4	0	3	0	3	0	6	1	4	0	1	1	2	3	1	1	3	3	rs200243391		TCGA-KC-A4BN-01A-61D-A257-08	TCGA-KC-A4BN-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef4b8185-9003-4a49-ab6c-84a5c0037837	85328a4c-38dc-48a7-8eed-1b4b4ad9e060	g.chr10:26465766G>T	ENST00000265944.5	+	31	4596	c.4430G>T	c.(4429-4431)tGc>tTc	p.C1477F	MYO3A_ENST00000543632.1_Intron	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	1477					ATP catabolic process (GO:0006200)|inner ear development (GO:0048839)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of filopodium assembly (GO:0051491)|protein autophosphorylation (GO:0046777)|response to stimulus (GO:0050896)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|filamentous actin (GO:0031941)|filopodium (GO:0030175)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|photoreceptor inner segment (GO:0001917)|stereocilium bundle tip (GO:0032426)	actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|plus-end directed microfilament motor activity (GO:0060002)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						TCTCAGCAGTGCCTCTCAGGT	0.373																																						ENST00000265944.5																			0				NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						c.(4429-4431)tGc>tTc		myosin IIIA							77	73	74					10																	26465766		2203	4300	6503	SO:0001583	missense	53904				protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity	g.chr10:26465766G>T	AF229172	CCDS7148.1	10p11.1	2011-09-27	2004-05-19		ENSG00000095777	ENSG00000095777		"Myosins / Myosin superfamily : Class III"	7601	protein-coding gene	gene with protein product		606808	"deafness, autosomal recessive 30"	DFNB30		10936054	Standard	NM_017433		Approved		uc001isn.2	Q8NEV4	OTTHUMG00000017837	ENST00000265944.5:c.4430G>T	10.37:g.26465766G>T	ENSP00000265944:p.Cys1477Phe					MYO3A_ENST00000543632.1_Intron	p.C1477F	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN			31	4596	+			1477					Q4G0X2|Q5VZ28|Q8WX17|Q9NYS8	Missense_Mutation	SNP	ENST00000265944.5	37	c.4430G>T	CCDS7148.1	.	.	.	.	.	.	.	.	.	.	G	6.775	0.511928	0.12944	.	.	ENSG00000095777	ENST00000265944	T	0.77098	-1.07	5.8	-3.33	0.04958	.	0.985154	0.08348	N	0.959691	T	0.63082	0.2481	L	0.32530	0.975	0.21579	N	0.999632	B	0.02656	0.0	B	0.01281	0.0	T	0.41840	-0.9486	10	0.26408	T	0.33	.	8.357	0.32335	0.5806:0.114:0.3055:0.0	.	1477	Q8NEV4	MYO3A_HUMAN	F	1477	ENSP00000265944:C1477F	ENSP00000265944:C1477F	C	+	2	0	MYO3A	26505772	0.007000	0.16637	0.021000	0.16686	0.899000	0.52679	0.190000	0.17057	-1.088000	0.03077	-0.806000	0.03193	TGC		0.373	MYO3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047259.1	NM_017433		4	58	1	0	0.000602214	1	0.000620191	4	58					T	26465766	G	T	26465766	3	4	295	1	0	0	0	0	1	0	0	0	10076	1319	46	5	4544	5	MYO3A	10	26465766	Missense_Mutation	SNP	G	TCGA-KC-A4BN-01A-61D-A257-08	26371932	26465766	109068981	15	14210											
PDHX	8050	broad.mit.edu	37	chr11	34991708	34991708	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cacattcactgaaatccccgCcagcaatattcgaagagtta	14	9	6	12	2	1	2	1	1	0	1	3	3	2	2	3	0	1	2	3	0	5	4			TCGA-KC-A4BN-01A-61D-A257-08	TCGA-KC-A4BN-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef4b8185-9003-4a49-ab6c-84a5c0037837	85328a4c-38dc-48a7-8eed-1b4b4ad9e060	g.chr11:34991708C>T	ENST00000227868.4	+	7	923	c.839C>T	c.(838-840)gCc>gTc	p.A280V	PDHX_ENST00000448838.3_Missense_Mutation_p.A265V|PDHX_ENST00000430469.2_Intron			O00330	ODPX_HUMAN	pyruvate dehydrogenase complex, component X	280					cellular metabolic process (GO:0044237)|pyruvate metabolic process (GO:0006090)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)	transferase activity, transferring acyl groups (GO:0016746)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|upper_aerodigestive_tract(1)	16	all_epithelial(35;0.115)|Lung NSC(22;0.218)|all_lung(20;0.242)	all_hematologic(20;0.124)	STAD - Stomach adenocarcinoma(6;0.00113)			GAAATCCCCGCCAGCAATATT	0.383																																						ENST00000448838.3																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|upper_aerodigestive_tract(1)	16						c.(793-795)gCc>gTc		pyruvate dehydrogenase complex, component X							78	72	74					11																	34991708		2202	4298	6500	SO:0001583	missense	8050				pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	acyltransferase activity	g.chr11:34991708C>T	U82328	CCDS7896.1, CCDS44569.1, CCDS53616.1	11p13	2008-02-05			ENSG00000110435	ENSG00000110435			21350	protein-coding gene	gene with protein product		608769				9467010, 12372595	Standard	NM_003477		Approved	E3BP, proX, PDX1, OPDX, DLDBP	uc001mvt.3	O00330	OTTHUMG00000166491	ENST00000227868.4:c.839C>T	11.37:g.34991708C>T	ENSP00000227868:p.Ala280Val					PDHX_ENST00000430469.2_Intron|PDHX_ENST00000227868.4_Missense_Mutation_p.A280V	p.A265V	NM_001135024.1|NM_003477.2	NP_001128496.1|NP_003468.2	O00330	ODPX_HUMAN	STAD - Stomach adenocarcinoma(6;0.00113)		7	1036	+	all_epithelial(35;0.115)|Lung NSC(22;0.218)|all_lung(20;0.242)	all_hematologic(20;0.124)	280					B4DW62|D3DR11|E9PB14|E9PBP7|O60221|Q96FV8|Q99783	Missense_Mutation	SNP	ENST00000227868.4	37	c.794C>T	CCDS7896.1	.	.	.	.	.	.	.	.	.	.	C	15.35	2.806757	0.50421	.	.	ENSG00000110435	ENST00000448838;ENST00000227868	T;T	0.38560	1.13;1.13	5.75	5.75	0.90469	2-oxoacid dehydrogenase acyltransferase, catalytic domain (1);Chloramphenicol acetyltransferase-like domain (1);	0.046297	0.85682	D	0.000000	T	0.29945	0.0749	N	0.16016	0.355	0.80722	D	1	P;B	0.38677	0.642;0.392	B;B	0.42112	0.376;0.173	T	0.06127	-1.0844	10	0.02654	T	1	-11.8635	18.5201	0.90948	0.0:1.0:0.0:0.0	.	265;280	E9PB14;O00330	.;ODPX_HUMAN	V	265;280	ENSP00000389404:A265V;ENSP00000227868:A280V	ENSP00000227868:A280V	A	+	2	0	PDHX	34948284	1.000000	0.71417	0.993000	0.49108	0.742000	0.42306	6.893000	0.75649	2.700000	0.92200	0.563000	0.77884	GCC		0.383	PDHX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390017.1	NM_003477		12	44	0	0	0	1	0	12	44					T	34991708	C	T	34991708	3	4	295	1	0	0	0	0	1	0	0	0	11667	739	26	3	984	3	PDHX	11	34991708	Missense_Mutation	SNP	C	TCGA-KC-A4BN-01A-61D-A257-08		34991708	100014808	16	14211											
BICD1	636	broad.mit.edu	37	chr12	32481467	32481467	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagatcgccacattgagggCggtgttgaaagccaacaagc	12	6	13	10	2	0	3	0	2	0	1	1	3	0	3	2	2	3	2	2	2	3	2			TCGA-KC-A4BN-01A-61D-A257-08	TCGA-KC-A4BN-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef4b8185-9003-4a49-ab6c-84a5c0037837	85328a4c-38dc-48a7-8eed-1b4b4ad9e060	g.chr12:32481467C>T	ENST00000281474.5	+	5	2181	c.2078C>T	c.(2077-2079)gCg>gTg	p.A693V	BICD1_ENST00000548411.1_Missense_Mutation_p.A693V	NM_001714.2	NP_001705.2	Q96G01	BICD1_HUMAN	bicaudal D homolog 1 (Drosophila)	693	Interacts with RAB6A.				anatomical structure morphogenesis (GO:0009653)|intracellular mRNA localization (GO:0008298)|microtubule anchoring at microtubule organizing center (GO:0072393)|minus-end-directed organelle transport along microtubule (GO:0072385)|negative regulation of phospholipase C activity (GO:1900275)|negative regulation of phospholipase C-activating G-protein coupled receptor signaling pathway (GO:1900737)|positive regulation of receptor-mediated endocytosis (GO:0048260)|protein localization to organelle (GO:0033365)|regulation of proteinase activated receptor activity (GO:1900276)|RNA processing (GO:0006396)|stress granule assembly (GO:0034063)|viral process (GO:0016032)	cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|host cell viral assembly compartment (GO:0072517)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network (GO:0005802)	cytoskeletal adaptor activity (GO:0008093)|dynactin binding (GO:0034452)|dynein binding (GO:0045502)|proteinase activated receptor binding (GO:0031871)|Rab GTPase binding (GO:0017137)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46	all_cancers(9;5.13e-11)|all_epithelial(9;2.71e-11)|all_lung(12;6.66e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0213)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)		OV - Ovarian serous cystadenocarcinoma(6;0.0201)			ACATTGAGGGCGGTGTTGAAA	0.443																																						ENST00000548411.1																			0				NS(1)|breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						c.(2077-2079)gCg>gTg		bicaudal D homolog 1 (Drosophila)							58	58	58					12																	32481467		2203	4300	6503	SO:0001583	missense	636				anatomical structure morphogenesis|intracellular mRNA localization|microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule|positive regulation of receptor-mediated endocytosis|protein localization to organelle|RNA processing|stress granule assembly|viral reproduction	cytoplasmic vesicle|cytoskeleton|cytosol|host cell viral assembly compartment|membrane|perinuclear region of cytoplasm|trans-Golgi network	cytoskeletal adaptor activity|dynactin binding|dynein binding|proteinase activated receptor binding|Rab GTPase binding|structural constituent of cytoskeleton	g.chr12:32481467C>T	U90028	CCDS8726.1, CCDS44859.1	12p11.2-p11.1	2005-01-13	2001-11-28			ENSG00000151746			1049	protein-coding gene	gene with protein product		602204	"Bicaudal D (Drosophila) homolog 1"			9367685	Standard	NM_001714		Approved		uc001rku.3	Q96G01	OTTHUMG00000169307	ENST00000281474.5:c.2078C>T	12.37:g.32481467C>T	ENSP00000281474:p.Ala693Val					BICD1_ENST00000281474.5_Missense_Mutation_p.A693V	p.A693V	NM_001003398.1	NP_001003398.1	Q96G01	BICD1_HUMAN	OV - Ovarian serous cystadenocarcinoma(6;0.0201)		5	2259	+	all_cancers(9;5.13e-11)|all_epithelial(9;2.71e-11)|all_lung(12;6.66e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0213)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)		693			Interacts with RAB6A.		A8K2C3|F8W113|O43892|O43893	Missense_Mutation	SNP	ENST00000281474.5	37	c.2078C>T	CCDS8726.1	.	.	.	.	.	.	.	.	.	.	C	11.17	1.559152	0.27827	.	.	ENSG00000151746	ENST00000548411;ENST00000281474	T;T	0.44083	0.93;0.93	5.05	5.05	0.67936	.	0.146454	0.48286	D	0.000193	T	0.36771	0.0979	L	0.53249	1.67	0.80722	D	1	P;P	0.45240	0.621;0.854	B;B	0.31946	0.05;0.138	T	0.39583	-0.9607	10	0.41790	T	0.15	.	18.4173	0.90575	0.0:1.0:0.0:0.0	.	693;693	F8W113;Q96G01	.;BICD1_HUMAN	V	693	ENSP00000446793:A693V;ENSP00000281474:A693V	ENSP00000281474:A693V	A	+	2	0	BICD1	32372734	1.000000	0.71417	0.895000	0.35142	0.234000	0.25298	5.479000	0.66813	2.333000	0.79357	0.655000	0.94253	GCG		0.443	BICD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403380.1	NM_001714		14	76	0	0	0	1	0	14	76					T	32481467	C	T	32481467	3	4	295	1	0	0	0	0	1	0	0	0	1428	768	27	1	2096	1	BICD1	12	32481467	Missense_Mutation	SNP	C	TCGA-KC-A4BN-01A-61D-A257-08		32481467	101370428	17	14212											
SETDB2	83852	broad.mit.edu	37	chr13	50051103	50051103	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cagaaagactgtgtggcctcGagcatataatctaaccaact	14	9	8	10	1	1	2	0	0	1	2	2	3	1	2	2	1	3	1	2	1	5	3			TCGA-KC-A4BN-01A-61D-A257-08	TCGA-KC-A4BN-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef4b8185-9003-4a49-ab6c-84a5c0037837	85328a4c-38dc-48a7-8eed-1b4b4ad9e060	g.chr13:50051103G>A	ENST00000317257.8	+	7	1658	c.833G>A	c.(832-834)cGa>cAa	p.R278Q	SETDB2_ENST00000354234.4_Missense_Mutation_p.R266Q|SETDB2_ENST00000258672.5_Missense_Mutation_p.R266Q	NM_031915.2	NP_114121.2	Q96T68	SETB2_HUMAN	SET domain, bifurcated 2	278					chromosome segregation (GO:0007059)|heart looping (GO:0001947)|histone H3-K9 methylation (GO:0051567)|left/right axis specification (GO:0070986)|mitotic nuclear division (GO:0007067)|negative regulation of transcription, DNA-templated (GO:0045892)	chromosome (GO:0005694)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K9 specific) (GO:0046974)|zinc ion binding (GO:0008270)	p.R278Q(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	15		Lung NSC(96;0.000408)|Breast(56;0.00131)|Prostate(109;0.00446)|Hepatocellular(98;0.0556)|Glioma(44;0.236)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;3.1e-09)		GTGTGGCCTCGAGCATATAAT	0.408																																						ENST00000354234.4																			1	Substitution - Missense(1)	p.R278Q(1)	endometrium(1)	breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	15						c.(796-798)cGa>cAa		SET domain, bifurcated 2							74	74	74					13																	50051103		2203	4300	6503	SO:0001583	missense	83852				cell division|chromosome segregation|heart looping|left/right axis specification|mitosis|negative regulation of transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone methyltransferase activity (H3-K9 specific)|zinc ion binding	g.chr13:50051103G>A	AF334407	CCDS9417.1, CCDS53868.1	13q14	2011-07-01	2003-05-06	2003-05-09	ENSG00000136169	ENSG00000136169		"Chromatin-modifying enzymes / K-methyltransferases"	20263	protein-coding gene	gene with protein product		607865	"chromosome 13 open reading frame 4"	C13orf4		11306461	Standard	NM_031915		Approved	CLLD8, CLLL8, KMT1F	uc001vda.3	Q96T68	OTTHUMG00000016918	ENST00000317257.8:c.833G>A	13.37:g.50051103G>A	ENSP00000326477:p.Arg278Gln					SETDB2_ENST00000317257.8_Missense_Mutation_p.R278Q|SETDB2_ENST00000258672.5_Missense_Mutation_p.R266Q	p.R266Q	NM_001160308.1	NP_001153780.1	Q96T68	SETB2_HUMAN	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;3.1e-09)	6	1703	+		Lung NSC(96;0.000408)|Breast(56;0.00131)|Prostate(109;0.00446)|Hepatocellular(98;0.0556)|Glioma(44;0.236)	278					Q5TC65|Q5TC66|Q5W0A7|Q659A7|Q86UD6|Q96AI6	Missense_Mutation	SNP	ENST00000317257.8	37	c.797G>A	CCDS9417.1	.	.	.	.	.	.	.	.	.	.	G	11.88	1.769774	0.31320	.	.	ENSG00000136169	ENST00000354234;ENST00000317257;ENST00000258672	T;T;T	0.76186	-1.0;-1.0;-1.0	5.85	4.99	0.66335	Pre-SET domain (1);	0.158236	0.56097	D	0.000021	T	0.80439	0.4623	M	0.64170	1.965	0.37211	D	0.904822	D;D;D	0.89917	0.987;1.0;1.0	P;D;D	0.73380	0.638;0.966;0.98	T	0.79115	-0.1936	10	0.13108	T	0.6	.	9.6002	0.39598	0.0704:0.2707:0.6588:0.0	.	278;266;278	Q96T68-3;Q96T68-2;Q96T68	.;.;SETB2_HUMAN	Q	266;278;266	ENSP00000346175:R266Q;ENSP00000326477:R278Q;ENSP00000258672:R266Q	ENSP00000258672:R266Q	R	+	2	0	SETDB2	48949104	0.995000	0.38212	0.918000	0.36340	0.011000	0.07611	1.356000	0.34079	1.441000	0.47550	0.655000	0.94253	CGA		0.408	SETDB2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000044925.1	NM_031915		4	79	0	0	0	1	0	4	79					A	50051103	G	A	50051103	3	1	295	1	0	0	0	0	1	0	0	0	14139	1058	37	2	855	2	SETDB2	13	50051103	Missense_Mutation	SNP	G	TCGA-KC-A4BN-01A-61D-A257-08		50051103	65118775	18	14213											
OR4Q3	441669	broad.mit.edu	37	chr14	20216043	20216043	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ttcttgcctgctggtgtgggGgttttatccactctatcatg	4	17	11	9	0	3	0	1	0	2	0	4	0	4	0	2	3	2	2	2	3	2	5			TCGA-KC-A4BN-01A-61D-A257-08	TCGA-KC-A4BN-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef4b8185-9003-4a49-ab6c-84a5c0037837	85328a4c-38dc-48a7-8eed-1b4b4ad9e060	g.chr14:20216043G>A	ENST00000331723.1	+	1	457	c.457G>A	c.(457-459)Ggt>Agt	p.G153S		NM_172194.1	NP_751944.1	Q8NH05	OR4Q3_HUMAN	olfactory receptor, family 4, subfamily Q, member 3	153						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|breast(4)|endometrium(3)|kidney(2)|large_intestine(1)|lung(28)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		CTGGTGTGGGGGTTTTATCCA	0.498																																						ENST00000331723.1																			0				NS(2)|breast(4)|endometrium(3)|kidney(2)|large_intestine(1)|lung(28)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	47						c.(457-459)Ggt>Agt		olfactory receptor, family 4, subfamily Q, member 3							91	93	92					14																	20216043		2203	4297	6500	SO:0001583	missense	441669				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20216043G>A	AF179768	CCDS32020.1	14p13	2012-08-09				ENSG00000182652		"GPCR / Class A : Olfactory receptors"	15426	protein-coding gene	gene with protein product				OR4Q4			Standard	NM_172194		Approved	C14orf13	uc010tkt.2	Q8NH05		ENST00000331723.1:c.457G>A	14.37:g.20216043G>A	ENSP00000330049:p.Gly153Ser						p.G153S	NM_172194.1	NP_751944.1	Q8NH05	OR4Q3_HUMAN	Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)	1	457	+	all_cancers(95;0.00108)		153					Q6IEX4	Missense_Mutation	SNP	ENST00000331723.1	37	c.457G>A	CCDS32020.1	.	.	.	.	.	.	.	.	.	.	.	15.05	2.718645	0.48622	.	.	ENSG00000182652	ENST00000331723	T	0.32988	1.43	4.09	4.09	0.47781	GPCR, rhodopsin-like superfamily (1);	0.174103	0.26935	U	0.021742	T	0.44201	0.1282	M	0.68593	2.085	0.09310	N	1	P	0.52577	0.954	P	0.56612	0.802	T	0.29027	-1.0025	10	0.62326	D	0.03	.	9.1301	0.36839	0.0:0.0:0.782:0.218	.	153	Q8NH05	OR4Q3_HUMAN	S	153	ENSP00000330049:G153S	ENSP00000330049:G153S	G	+	1	0	OR4Q3	19285883	0.645000	0.27286	0.981000	0.43875	0.729000	0.41735	3.089000	0.50183	2.105000	0.64084	0.406000	0.27484	GGT		0.498	OR4Q3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409818.2			10	39	0	0	0	1	0	10	39					A	20216043	G	A	20216043	3	1	295	1	0	0	0	0	1	0	0	0	11081	1232	43	3	459	3	OR4Q3	14	20216043	Missense_Mutation	SNP	G	TCGA-KC-A4BN-01A-61D-A257-08		20216043	87133497	19	14214											
BAHD1	22893	broad.mit.edu	37	chr15	40750961	40750961	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cgcctgacctgcccaagcccCccagcccggccccatccagt	6	4	8	23	2	0	1	0	1	0	0	1	1	1	1	10	1	3	0	10	1	1	0			TCGA-KC-A4BN-01A-61D-A257-08	TCGA-KC-A4BN-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef4b8185-9003-4a49-ab6c-84a5c0037837	85328a4c-38dc-48a7-8eed-1b4b4ad9e060	g.chr15:40750961C>T	ENST00000416165.1	+	2	369	c.298C>T	c.(298-300)Ccc>Tcc	p.P100S	BAHD1_ENST00000561234.1_Missense_Mutation_p.P100S|BAHD1_ENST00000560846.1_Missense_Mutation_p.P100S	NM_014952.3	NP_055767.3	Q8TBE0	BAHD1_HUMAN	bromo adjacent homology domain containing 1	100					heterochromatin assembly (GO:0031507)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	chromatin silencing complex (GO:0005677)|chromosome (GO:0005694)	chromatin binding (GO:0003682)			NS(1)|endometrium(6)|kidney(3)|large_intestine(3)|lung(10)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	28		all_cancers(109;8.28e-19)|all_epithelial(112;2.64e-15)|Lung NSC(122;5.14e-11)|all_lung(180;1.27e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.46e-06)|BRCA - Breast invasive adenocarcinoma(123;0.08)		GCCCAAGCCCCCCAGCCCGGC	0.657																																						ENST00000561234.1																			0				NS(1)|endometrium(6)|kidney(3)|large_intestine(3)|lung(10)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	28						c.(298-300)Ccc>Tcc		bromo adjacent homology domain containing 1							28	33	31					15																	40750961		2203	4300	6503	SO:0001583	missense	22893				heterochromatin formation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromatin silencing complex|chromosome	chromatin binding|DNA binding|protein binding	g.chr15:40750961C>T	AL833923	CCDS10058.1, CCDS73705.1	15q14	2005-11-10			ENSG00000140320	ENSG00000140320			29153	protein-coding gene	gene with protein product		613880				10231032	Standard	XM_005254229		Approved	KIAA0945	uc001zlu.2	Q8TBE0	OTTHUMG00000129982	ENST00000416165.1:c.298C>T	15.37:g.40750961C>T	ENSP00000396976:p.Pro100Ser					BAHD1_ENST00000416165.1_Missense_Mutation_p.P100S|BAHD1_ENST00000560846.1_Missense_Mutation_p.P100S	p.P100S			Q8TBE0	BAHD1_HUMAN		GBM - Glioblastoma multiforme(113;3.46e-06)|BRCA - Breast invasive adenocarcinoma(123;0.08)	2	557	+		all_cancers(109;8.28e-19)|all_epithelial(112;2.64e-15)|Lung NSC(122;5.14e-11)|all_lung(180;1.27e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)	100					Q8NDF7|Q9Y2F4	Missense_Mutation	SNP	ENST00000416165.1	37	c.298C>T	CCDS10058.1	.	.	.	.	.	.	.	.	.	.	C	9.008	0.981695	0.18812	.	.	ENSG00000140320	ENST00000416165	T	0.16597	2.33	5.29	5.29	0.74685	.	0.241346	0.35739	N	0.003004	T	0.07683	0.0193	N	0.03608	-0.345	0.34157	D	0.668216	P;P;P	0.47910	0.902;0.842;0.902	B;B;B	0.44133	0.442;0.257;0.442	T	0.09574	-1.0668	10	0.02654	T	1	-16.4431	12.6279	0.56640	0.0:0.7836:0.2164:0.0	.	100;100;100	Q8TBE0-3;Q8TBE0;Q8TBE0-2	.;BAHD1_HUMAN;.	S	100	ENSP00000396976:P100S	ENSP00000396976:P100S	P	+	1	0	BAHD1	38538253	0.860000	0.29831	1.000000	0.80357	0.736000	0.42039	2.406000	0.44557	2.746000	0.94184	0.650000	0.86243	CCC		0.657	BAHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252248.1	NM_014952		9	73	0	0	0	1	0	9	73					T	40750961	C	T	40750961	3	4	295	1	0	0	0	0	1	0	0	0	1297	623	22	3	300	3	BAHD1	15	40750961	Missense_Mutation	SNP	C	TCGA-KC-A4BN-01A-61D-A257-08		40750961	61780431	20	14215											
SLC30A4	7782	broad.mit.edu	37	chr15	45777429	45777429	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cctgtaactctgaagctgaaTagtacatctatacatgccaa	14	11	6	10	0	2	2	0	2	2	0	2	2	2	2	2	0	5	3	2	0	8	5			TCGA-KC-A4BN-01A-61D-A257-08	TCGA-KC-A4BN-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef4b8185-9003-4a49-ab6c-84a5c0037837	85328a4c-38dc-48a7-8eed-1b4b4ad9e060	g.chr15:45777429T>C	ENST00000261867.4	-	8	1536	c.1222A>G	c.(1222-1224)Att>Gtt	p.I408V	RP11-519G16.3_ENST00000558536.1_RNA|RP11-519G16.3_ENST00000560647.1_RNA	NM_013309.4	NP_037441.2	O14863	ZNT4_HUMAN	solute carrier family 30 (zinc transporter), member 4	408					regulation of sequestering of zinc ion (GO:0061088)|response to toxic substance (GO:0009636)|zinc ion homeostasis (GO:0055069)|zinc ion transmembrane transport (GO:0071577)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)	zinc ion transmembrane transporter activity (GO:0005385)			endometrium(3)|large_intestine(2)|lung(8)|prostate(1)|stomach(1)	15		Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.58e-16)|GBM - Glioblastoma multiforme(94;2.15e-06)		TGAAGCTGAATAGTACATCTA	0.378																																						ENST00000261867.4																			0				endometrium(3)|large_intestine(2)|lung(8)|prostate(1)|stomach(1)	15						c.(1222-1224)Att>Gtt		solute carrier family 30 (zinc transporter), member 4							128	112	117					15																	45777429		2198	4298	6496	SO:0001583	missense	7782				regulation of sequestering of zinc ion|response to toxin	endosome membrane|integral to membrane|late endosome	zinc ion transmembrane transporter activity	g.chr15:45777429T>C		CCDS10125.1	15q21.1	2013-05-22			ENSG00000104154	ENSG00000104154		"Solute carriers"	11015	protein-coding gene	gene with protein product		602095		ZNT4			Standard	NM_013309		Approved		uc001zvj.3	O14863	OTTHUMG00000131439	ENST00000261867.4:c.1222A>G	15.37:g.45777429T>C	ENSP00000261867:p.Ile408Val					RP11-519G16.3_ENST00000560647.1_RNA|RP11-519G16.3_ENST00000558536.1_RNA	p.I408V	NM_013309.4	NP_037441.2	O14863	ZNT4_HUMAN		all cancers(107;1.58e-16)|GBM - Glioblastoma multiforme(94;2.15e-06)	8	1536	-		Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)	408					Q8TC39	Missense_Mutation	SNP	ENST00000261867.4	37	c.1222A>G	CCDS10125.1	.	.	.	.	.	.	.	.	.	.	T	11.37	1.618856	0.28801	.	.	ENSG00000104154	ENST00000261867	T	0.63913	-0.07	6.17	3.81	0.43845	.	0.226096	0.46758	N	0.000279	T	0.40398	0.1115	N	0.17564	0.495	0.36824	D	0.886556	B	0.02656	0.0	B	0.09377	0.004	T	0.31251	-0.9950	10	0.24483	T	0.36	-16.3643	6.8498	0.24008	0.0:0.2459:0.0:0.7541	.	408	O14863	ZNT4_HUMAN	V	408	ENSP00000261867:I408V	ENSP00000261867:I408V	I	-	1	0	SLC30A4	43564721	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.336000	0.43938	1.111000	0.41721	0.533000	0.62120	ATT		0.378	SLC30A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254236.1			3	34	0	0	0	1	0	3	34					C	45777429	T	C	45777429	3	2	295	1	0	0	0	0	1	0	0	0	14557	1406	49	4	71	4	SLC30A4	15	45777429	Missense_Mutation	SNP	T	TCGA-KC-A4BN-01A-61D-A257-08	5026468	45777429	56753963	21	14216											
TAOK2	8479	broad.mit.edu	37	chr16	30002225	30002225	+	IGR	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tccgcacagagagccagcacGagagggagctgcgggagctg	10	3	17	11	3	0	2	0	0	0	2	1	6	1	4	2	2	5	4	2	2	0	0			TCGA-KC-A4BN-01A-61D-A257-08	TCGA-KC-A4BN-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef4b8185-9003-4a49-ab6c-84a5c0037837	85328a4c-38dc-48a7-8eed-1b4b4ad9e060	g.chr16:30002225G>A	ENST00000279392.3	-	0	3385				TAOK2_ENST00000279394.3_Missense_Mutation_p.E856K	NM_003609.4	NP_003600.2	Q9BW71	HIRP3_HUMAN	HIRA interacting protein 3						chromatin assembly or disassembly (GO:0006333)	nucleus (GO:0005634)				central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(1)|lung(9)	17						GAGCCAGCACGAGAGGGAGCT	0.662																																						ENST00000279394.3																			0				breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1)	22						c.(2566-2568)Gag>Aag		TAO kinase 2							40	45	43					16																	30002225		2197	4300	6497	SO:0001628	intergenic_variant	9344				actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress	cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus	ATP binding|protein serine/threonine kinase activity	g.chr16:30002225G>A	AJ223351	CCDS10664.1, CCDS58449.1	16p12.1	2008-02-05	2001-11-29		ENSG00000149929	ENSG00000149929			4917	protein-coding gene	gene with protein product		603365	"HIRA-interacting protein 3"			9710638	Standard	NM_003609		Approved		uc002dve.3	Q9BW71	OTTHUMG00000132118		16.37:g.30002225G>A							p.E856K	NM_004783.3	NP_004774.1	Q9UL54	TAOK2_HUMAN			18	2969	+			737			Glu-rich.		H3BSR3|O75707|O75708	Missense_Mutation	SNP	ENST00000279392.3	37	c.2566G>A	CCDS10664.1	.	.	.	.	.	.	.	.	.	.	G	19.36	3.812959	0.70912	.	.	ENSG00000149930	ENST00000279394	T	0.55052	0.54	5.38	5.38	0.77491	.	.	.	.	.	T	0.57621	0.2066	L	0.55213	1.73	0.80722	D	1	D	0.58970	0.984	P	0.48770	0.589	T	0.57130	-0.7864	8	.	.	.	.	17.9064	0.88919	0.0:0.0:1.0:0.0	.	856	Q9UL54-2	.	K	856	ENSP00000279394:E856K	.	E	+	1	0	TAOK2	29909726	1.000000	0.71417	0.993000	0.49108	0.621000	0.37620	9.869000	0.99810	2.523000	0.85059	0.557000	0.71058	GAG		0.662	HIRIP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255160.2	NM_003609		6	96	0	0	0	1	0	6	96					A	30002225	G	A	30002225	1	1	295	0	1	0	0	0	0	0	0	0	15545	1059	37	2		2	TAOK2	16	30002225	IGR	SNP	G	TCGA-KC-A4BN-01A-61D-A257-08		30002225	60352528	22	14217											
KLHL36	79786	broad.mit.edu	37	chr16	84695401	84695401	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgggggcagcgatgacaacAtcgagtccatggagcgcttc	9	7	14	11	4	0	1	0	1	0	0	4	4	1	2	1	3	3	2	1	3	1	1	rs149485033	byFrequency	TCGA-KC-A4BN-01A-61D-A257-08	TCGA-KC-A4BN-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef4b8185-9003-4a49-ab6c-84a5c0037837	85328a4c-38dc-48a7-8eed-1b4b4ad9e060	g.chr16:84695401A>G	ENST00000564996.1	+	5	1654	c.1513A>G	c.(1513-1515)Atc>Gtc	p.I505V	KLHL36_ENST00000258157.5_Missense_Mutation_p.I442V	NM_024731.2	NP_079007.2	Q8N4N3	KLH36_HUMAN	kelch-like family member 36	505					protein ubiquitination (GO:0016567)					endometrium(3)|large_intestine(1)|lung(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						CGATGACAACATCGAGTCCAT	0.682													A|||	2	0.000399361	0	0	5008	,	,		15251	0.002		0	False		,,,				2504	0					ENST00000564996.1																			0				endometrium(3)|large_intestine(1)|lung(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						c.(1513-1515)Atc>Gtc		kelch-like family member 36							67	59	62					16																	84695401		2199	4300	6499	SO:0001583	missense	79786							g.chr16:84695401A>G	AK022605	CCDS10948.1	16q24.1	2013-02-22	2013-02-22	2008-07-07	ENSG00000135686	ENSG00000135686		"Kelch-like", "BTB/POZ domain containing"	17844	protein-coding gene	gene with protein product			"chromosome 16 open reading frame 44", "kelch-like 36 (Drosophila)"	C16orf44			Standard	NM_024731		Approved	FLJ12543	uc002fig.3	Q8N4N3	OTTHUMG00000137642	ENST00000564996.1:c.1513A>G	16.37:g.84695401A>G	ENSP00000456743:p.Ile505Val					KLHL36_ENST00000258157.5_Missense_Mutation_p.I442V	p.I505V	NM_024731.2	NP_079007.2	Q8N4N3	KLH36_HUMAN			5	1654	+			505					Q8N5G6|Q9H9U6	Missense_Mutation	SNP	ENST00000564996.1	37	c.1513A>G	CCDS10948.1	.	.	.	.	.	.	.	.	.	.	A	0.006	-2.100471	0.00360	.	.	ENSG00000135686	ENST00000325279;ENST00000258157	T	0.65549	-0.16	5.49	-4.43	0.03568	Kelch-type beta propeller (1);	0.582726	0.18606	N	0.136315	T	0.34135	0.0887	N	0.14661	0.345	0.09310	N	0.999994	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.17198	-1.0377	10	0.18276	T	0.48	.	7.9621	0.30076	0.3251:0.2445:0.4304:0.0	.	442;505	Q8N4N3-2;Q8N4N3	.;KLH36_HUMAN	V	505;442	ENSP00000258157:I442V	ENSP00000258157:I442V	I	+	1	0	KLHL36	83252902	0.229000	0.23729	0.093000	0.20910	0.039000	0.13416	0.304000	0.19228	-1.301000	0.02338	-0.912000	0.02778	ATC		0.682	KLHL36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269084.2			3	37	0	0	0	1	0	3	37					G	84695401	A	G	84695401	3	3	295	1	0	0	0	0	1	0	0	0	8389	217	8	4	1527	4	KLHL36	16	84695401	Missense_Mutation	SNP	A	TCGA-KC-A4BN-01A-61D-A257-08	54693176	84695401	5659352	23	14218											
ARRDC2	27106	broad.mit.edu	37	chr19	18119525	18119525	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttctcctacctgcagataccGgggagaccacgacgctgcct	8	8	10	15	3	1	2	0	0	1	2	2	4	1	2	5	2	4	2	5	2	2	3			TCGA-KC-A4BN-01A-61D-A257-08	TCGA-KC-A4BN-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef4b8185-9003-4a49-ab6c-84a5c0037837	85328a4c-38dc-48a7-8eed-1b4b4ad9e060	g.chr19:18119525G>A	ENST00000222250.4	+	2	423	c.280G>A	c.(280-282)Ggg>Agg	p.G94R	ARRDC2_ENST00000379656.3_Missense_Mutation_p.G89R|ARRDC2_ENST00000608009.1_3'UTR	NM_015683.1	NP_056498.1	Q8TBH0	ARRD2_HUMAN	arrestin domain containing 2	94					signal transduction (GO:0007165)	cytoplasmic vesicle (GO:0031410)|plasma membrane (GO:0005886)				endometrium(1)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1)	12						TGCAGATACCGGGGAGACCAC	0.647																																						ENST00000222250.4																			0				endometrium(1)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1)	12						c.(280-282)Ggg>Agg		arrestin domain containing 2							67	70	69					19																	18119525		2203	4300	6503	SO:0001583	missense	27106							g.chr19:18119525G>A		CCDS12370.1, CCDS32956.1	19p13.12	2008-02-05				ENSG00000105643			25225	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_015683		Approved	CLONE24945, PP2703	uc002nhv.3	Q8TBH0		ENST00000222250.4:c.280G>A	19.37:g.18119525G>A	ENSP00000222250:p.Gly94Arg					ARRDC2_ENST00000595712.1_3'UTR|ARRDC2_ENST00000379656.2_Missense_Mutation_p.G89R	p.G94R	NM_015683.1	NP_056498.1	Q8TBH0	ARRD2_HUMAN			2	423	+			94					B2RBG9|O95895|Q6ZRV9|Q8WYG6	Missense_Mutation	SNP	ENST00000222250.4	37	c.280G>A	CCDS12370.1	.	.	.	.	.	.	.	.	.	.	G	32	5.167841	0.94768	.	.	ENSG00000105643	ENST00000379656;ENST00000222250	T;T	0.15952	2.56;2.38	4.38	4.38	0.52667	Immunoglobulin E-set (1);Arrestin-like, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.51618	0.1685	M	0.93106	3.38	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.78314	0.991;0.989	T	0.66224	-0.5977	10	0.72032	D	0.01	-5.1004	16.3427	0.83092	0.0:0.0:1.0:0.0	.	94;89	Q8TBH0;Q8TBH0-2	ARRD2_HUMAN;.	R	89;94	ENSP00000368977:G89R;ENSP00000222250:G94R	ENSP00000222250:G94R	G	+	1	0	ARRDC2	17980525	1.000000	0.71417	0.213000	0.23690	0.229000	0.25112	7.389000	0.79806	2.177000	0.69029	0.561000	0.74099	GGG		0.647	ARRDC2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466845.1	NM_015683		22	110	0	0	0	1	0	22	110					A	18119525	G	A	18119525	3	1	295	1	0	0	0	0	1	0	0	0	983	1116	39	2	549	2	ARRDC2	19	18119525	Missense_Mutation	SNP	G	TCGA-KC-A4BN-01A-61D-A257-08		18119525	41009458	24	14219											
ZNF430	80264	broad.mit.edu	37	chr19	21239844	21239844	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatgtggtaaagtctttaacTggttctcaacccttactaga	12	14	7	8	0	2	1	1	0	2	1	3	1	2	1	1	2	3	2	1	2	7	6			TCGA-KC-A4BN-01A-61D-A257-08	TCGA-KC-A4BN-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef4b8185-9003-4a49-ab6c-84a5c0037837	85328a4c-38dc-48a7-8eed-1b4b4ad9e060	g.chr19:21239844T>C	ENST00000261560.5	+	5	911	c.730T>C	c.(730-732)Tgg>Cgg	p.W244R	AC012627.1_ENST00000578233.1_RNA	NM_001172671.1|NM_025189.3	NP_001166142.1|NP_079465.3	Q9H8G1	ZN430_HUMAN	zinc finger protein 430	244					regulation of transcription, DNA-templated (GO:0006355)|substantia nigra development (GO:0021762)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	23						AGTCTTTAACTGGTTCTCAAC	0.363																																						ENST00000261560.5																			0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	23						c.(730-732)Tgg>Cgg		zinc finger protein 430							52	58	56					19																	21239844		2203	4300	6503	SO:0001583	missense	80264				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:21239844T>C	AK023721	CCDS32978.1	19p12	2013-01-08				ENSG00000118620		"Zinc fingers, C2H2-type", "-"	20808	protein-coding gene	gene with protein product							Standard	NM_025189		Approved	FLJ13659	uc002npj.3	Q9H8G1		ENST00000261560.5:c.730T>C	19.37:g.21239844T>C	ENSP00000261560:p.Trp244Arg						p.W244R	NM_001172671.1|NM_025189.3	NP_001166142.1|NP_079465.3	Q9H8G1	ZN430_HUMAN			5	911	+			244					Q86V70	Missense_Mutation	SNP	ENST00000261560.5	37	c.730T>C	CCDS32978.1	.	.	.	.	.	.	.	.	.	.	.	0.634	-0.816054	0.02776	.	.	ENSG00000118620	ENST00000261560	T	0.35048	1.33	1.04	1.04	0.20106	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.08582	0.0213	N	0.00453	-1.485	0.09310	N	1	B;B	0.17038	0.012;0.02	B;B	0.17979	0.016;0.02	T	0.34875	-0.9811	9	0.16420	T	0.52	.	3.7559	0.08585	0.0:0.4832:0.0:0.5168	.	243;244	Q2NKJ9;Q9H8G1	.;ZN430_HUMAN	R	244	ENSP00000261560:W244R	ENSP00000261560:W244R	W	+	1	0	ZNF430	21031684	0.000000	0.05858	0.018000	0.16275	0.017000	0.09413	-4.316000	0.00254	0.383000	0.24910	0.374000	0.22700	TGG		0.363	ZNF430-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463539.1	NM_025189		10	37	0	0	0	1	0	10	37					C	21239844	T	C	21239844	3	2	295	1	0	0	0	0	1	0	0	0	17901	1580	55	4	748	4	ZNF430	19	21239844	Missense_Mutation	SNP	T	TCGA-KC-A4BN-01A-61D-A257-08	3120319	21239844	37889139	25	14220											
ESF1	51575	broad.mit.edu	37	chr20	13695683	13695683	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtaagttcttgttctttccgTtctctttgccgggccttctc	2	19	8	12	2	4	0	0	0	4	0	7	0	5	0	3	1	1	4	3	1	1	8			TCGA-KC-A4BN-01A-61D-A257-08	TCGA-KC-A4BN-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef4b8185-9003-4a49-ab6c-84a5c0037837	85328a4c-38dc-48a7-8eed-1b4b4ad9e060	g.chr20:13695683T>C	ENST00000202816.1	-	14	2501	c.2394A>G	c.(2392-2394)gaA>gaG	p.E798E		NM_001276380.1|NM_016649.3	NP_001263309.1|NP_057733.2	Q9H501	ESF1_HUMAN	ESF1, nucleolar pre-rRNA processing protein, homolog (S. cerevisiae)	798	Lys-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	extracellular space (GO:0005615)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(2)|skin(1)|stomach(1)	31						GTTCTTTCCGTTCTCTTTGCC	0.398																																						ENST00000202816.1																			0				endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(2)|skin(1)|stomach(1)	31						c.(2392-2394)gaA>gaG		ESF1, nucleolar pre-rRNA processing protein, homolog (S. cerevisiae)							198	186	190					20																	13695683		2203	4300	6503	SO:0001819	synonymous_variant	51575				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus|nucleoplasm		g.chr20:13695683T>C		CCDS13117.1	20p12.1	2007-02-12	2006-11-13	2006-11-13	ENSG00000089048	ENSG00000089048			15898	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 6"	C20orf6			Standard	NM_016649		Approved	bA526K24.1	uc002wok.2	Q9H501	OTTHUMG00000031906	ENST00000202816.1:c.2394A>G	20.37:g.13695683T>C							p.E798E	NM_001276380.1|NM_016649.3	NP_001263309.1|NP_057733.2	Q9H501	ESF1_HUMAN			14	2501	-			798			Lys-rich.		Q86X92|Q9H9Q5|Q9HA35|Q9NX93|Q9P1S6	Silent	SNP	ENST00000202816.1	37	c.2394A>G	CCDS13117.1																																																																																				0.398	ESF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078049.1	NM_016649		29	121	0	0	0	1	0	29	121					C	13695683	T	C	13695683	2	2	295	1	0	0	0	0	0	0	0	1	5251	1722	60	4		4	ESF1	20	13695683	Silent	SNP	T	TCGA-KC-A4BN-01A-61D-A257-08		13695683	49329837	26	14221											
RBM10	8241	broad.mit.edu	37	chrX	47030582	47030582	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaggaggaggaggaggaggaGgatgaggaggaggaggagaa	15	1	25	0	0	0	2	0	1	0	1	0	14	0	12	0	11	0	0	0	11	1	0			TCGA-KC-A4BN-01A-61D-A257-08	TCGA-KC-A4BN-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef4b8185-9003-4a49-ab6c-84a5c0037837	85328a4c-38dc-48a7-8eed-1b4b4ad9e060	g.chrX:47030582G>T	ENST00000377604.3	+	4	1099	c.357G>T	c.(355-357)gaG>gaT	p.E119D	RBM10_ENST00000345781.6_Intron|RBM10_ENST00000329236.7_Intron	NM_001204467.1|NM_001204468.1|NM_005676.4	NP_001191396.1|NP_001191397.1|NP_005667.2	P98175	RBM10_HUMAN	RNA binding motif protein 10	119	Poly-Glu.				3'-UTR-mediated mRNA stabilization (GO:0070935)|mRNA processing (GO:0006397)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	48						aggaggaggaggatgaggagg	0.662																																					Melanoma(171;120 2705 19495 39241)	ENST00000377604.3																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	48						c.(355-357)gaG>gaT		RNA binding motif protein 10							20	19	19					X																	47030582		2202	4294	6496	SO:0001583	missense	8241				mRNA processing|RNA splicing	chromatin remodeling complex	nucleotide binding|RNA binding|zinc ion binding	g.chrX:47030582G>T	U35373	CCDS14274.1, CCDS56600.1, CCDS75969.1	Xp11.3	2014-06-09			ENSG00000182872	ENSG00000182872		"Zinc fingers, RAN-binding domain containing", "G patch domain containing", "RNA binding motif (RRM) containing"	9896	protein-coding gene	gene with protein product		300080				8590280, 8808293	Standard	NM_005676		Approved	DXS8237E, KIAA0122, GPATC9, ZRANB5, GPATCH9	uc004dhi.3	P98175	OTTHUMG00000021432	ENST00000377604.3:c.357G>T	X.37:g.47030582G>T	ENSP00000366829:p.Glu119Asp					RBM10_ENST00000468791.1_3'UTR|RBM10_ENST00000329236.7_Intron|RBM10_ENST00000345781.6_Intron	p.E119D	NM_001204467.1|NM_001204468.1|NM_005676.4	NP_001191396.1|NP_001191397.1|NP_005667.2	P98175	RBM10_HUMAN			4	1099	+			119			Poly-Glu.		C4AM81|Q14136|Q5JRR2|Q9BTE4|Q9BTX0|Q9NTB1	Missense_Mutation	SNP	ENST00000377604.3	37	c.357G>T	CCDS14274.1	.	.	.	.	.	.	.	.	.	.	G	7.514	0.655267	0.14580	.	.	ENSG00000182872	ENST00000377604	T	0.11169	2.8	3.1	1.15	0.20763	Nucleotide-binding, alpha-beta plait (1);	0.859005	0.09469	N	0.797951	T	0.04815	0.0130	N	0.08118	0	0.80722	D	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.38628	-0.9652	10	0.11182	T	0.66	-1.7872	6.9396	0.24486	0.0:0.0:0.4873:0.5127	.	184;119;119	Q7Z3D7;P98175-2;P98175	.;.;RBM10_HUMAN	D	119	ENSP00000366829:E119D	ENSP00000366829:E119D	E	+	3	2	RBM10	46915526	1.000000	0.71417	0.776000	0.31678	0.914000	0.54420	0.961000	0.29267	0.165000	0.19558	0.502000	0.49764	GAG		0.662	RBM10-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056381.1	NM_005676		3	11	1	0	0.004672	1	0.00474071	3	11					T	47030582	G	T	47030582	3	4	295	1	0	0	0	0	1	0	0	0	13111	991	35	5	367	5	RBM10	23	47030582	Missense_Mutation	SNP	G	TCGA-KC-A4BN-01A-61D-A257-08		47030582	108239978	27	14222											
P2RY4	5030	broad.mit.edu	37	chrX	69478626	69478626	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actttatagaccacgttgacAatgttcagtactcggcagtc	11	12	8	10	2	1	2	1	1	0	1	3	2	1	2	1	1	1	4	1	1	4	6	rs368304042		TCGA-KC-A4BN-01A-61D-A257-08	TCGA-KC-A4BN-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef4b8185-9003-4a49-ab6c-84a5c0037837	85328a4c-38dc-48a7-8eed-1b4b4ad9e060	g.chrX:69478626A>C	ENST00000374519.2	-	1	1028	c.849T>G	c.(847-849)atT>atG	p.I283M		NM_002565.3	NP_002556.1	P51582	P2RY4_HUMAN	pyrimidinergic receptor P2Y, G-protein coupled, 4	283					phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|transepithelial chloride transport (GO:0030321)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|G-protein coupled purinergic nucleotide receptor activity (GO:0045028)|uridine nucleotide receptor activity (GO:0015065)|UTP-activated nucleotide receptor activity (GO:0045030)			cervix(2)|endometrium(2)|large_intestine(8)|lung(6)	18						CCACGTTGACAATGTTCAGTA	0.542													A|||	2	0.000529801	0	0	3775	,	,		15772	0.002		0	False		,,,				2504	0					ENST00000374519.2																			0				cervix(2)|endometrium(2)|large_intestine(8)|lung(6)	18						c.(847-849)atT>atG		pyrimidinergic receptor P2Y, G-protein coupled, 4							62	49	53					X																	69478626		2203	4300	6503	SO:0001583	missense	5030				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|elevation of cytosolic calcium ion concentration	integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	g.chrX:69478626A>C	X91852	CCDS14398.1	Xq13	2012-08-08			ENSG00000186912	ENSG00000186912		"Purinergic receptors", "GPCR / Class A : Purinergic receptors, P2Y"	8542	protein-coding gene	gene with protein product		300038				8537336	Standard	NM_002565		Approved	NRU, P2Y4, UNR, P2P	uc004dxz.1	P51582	OTTHUMG00000021769	ENST00000374519.2:c.849T>G	X.37:g.69478626A>C	ENSP00000363643:p.Ile283Met						p.I283M	NM_002565.3	NP_002556.1	P51582	P2RY4_HUMAN			1	1028	-			283					Q4VBB7|Q4VBB8|Q502W2|Q5JT22	Missense_Mutation	SNP	ENST00000374519.2	37	c.849T>G	CCDS14398.1	.	.	.	.	.	.	.	.	.	.	A	9.861	1.196304	0.22037	.	.	ENSG00000186912	ENST00000374519	T	0.20598	2.06	4.7	-3.67	0.04476	GPCR, rhodopsin-like superfamily (1);	0.279475	0.33515	U	0.004830	T	0.20981	0.0505	L	0.42632	1.34	0.24107	N	0.99586	B	0.34241	0.444	P	0.45167	0.472	T	0.23691	-1.0181	10	0.34782	T	0.22	.	10.5374	0.45013	0.3535:0.109:0.5375:0.0	.	283	P51582	P2RY4_HUMAN	M	283	ENSP00000363643:I283M	ENSP00000363643:I283M	I	-	3	3	P2RY4	69395351	0.037000	0.19845	0.800000	0.32199	0.575000	0.36095	-0.411000	0.07142	-1.220000	0.02594	-2.432000	0.00214	ATT		0.542	P2RY4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057058.2	NM_002565		3	17	0	0	0	1	0	3	17					C	69478626	A	C	69478626	3	2	295	1	0	0	0	0	1	0	0	0	11353	126	5	5	252	5	P2RY4	23	69478626	Missense_Mutation	SNP	A	TCGA-KC-A4BN-01A-61D-A257-08	22448044	69478626	85791934	28	14223											
SMARCA1	6594	broad.mit.edu	37	chrX	128599589	128599589	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttcatatacattttctctatCaaagcccattttgtgtaaca	12	17	3	9	0	3	0	2	0	1	0	4	0	3	0	1	0	3	1	1	0	5	9			TCGA-KC-A4BN-01A-61D-A257-08	TCGA-KC-A4BN-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef4b8185-9003-4a49-ab6c-84a5c0037837	85328a4c-38dc-48a7-8eed-1b4b4ad9e060	g.chrX:128599589C>G	ENST00000371122.4	-	23	3067	c.2938G>C	c.(2938-2940)Gat>Cat	p.D980H	SMARCA1_ENST00000371123.1_Missense_Mutation_p.D968H|SMARCA1_ENST00000371121.3_Missense_Mutation_p.D968H	NM_003069.3	NP_003060.2	P28370	SMCA1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1	980	SANT 2. {ECO:0000255|PROSITE- ProRule:PRU00624}.				ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|brain development (GO:0007420)|chromatin remodeling (GO:0006338)|DNA strand renaturation (GO:0000733)|neuron differentiation (GO:0030182)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of neural precursor cell proliferation (GO:2000177)|transcription, DNA-templated (GO:0006351)	CERF complex (GO:0090537)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|NURF complex (GO:0016589)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(13)|ovary(5)|prostate(1)|skin(1)	45						TTTTCTCTATCAAAGCCCATT	0.363																																						ENST00000371122.4																			0				biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(13)|ovary(5)|prostate(1)|skin(1)	45						c.(2938-2940)Gat>Cat		SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1							171	152	158					X																	128599589		2203	4300	6503	SO:0001583	missense	6594				ATP-dependent chromatin remodeling|brain development|neuron differentiation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	NURF complex	ATP binding|DNA binding|helicase activity|nucleosome binding|protein binding	g.chrX:128599589C>G	M88163	CCDS14612.1, CCDS76018.1, CCDS76019.1	Xq25	2008-02-05			ENSG00000102038	ENSG00000102038			11097	protein-coding gene	gene with protein product		300012		SNF2L1, SNF2L		1408766, 14609955	Standard	XM_005262461		Approved	SNF2LB, NURF140, ISWI, SWI	uc004eun.4	P28370	OTTHUMG00000022370	ENST00000371122.4:c.2938G>C	X.37:g.128599589C>G	ENSP00000360163:p.Asp980His					SMARCA1_ENST00000371121.3_Missense_Mutation_p.D968H|SMARCA1_ENST00000371123.1_Missense_Mutation_p.D968H	p.D980H	NM_003069.3	NP_003060.2	P28370	SMCA1_HUMAN			23	3067	-			980			SANT 2.		Q5JV41|Q5JV42	Missense_Mutation	SNP	ENST00000371122.4	37	c.2938G>C	CCDS14612.1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.283685	0.80803	.	.	ENSG00000102038	ENST00000371121;ENST00000371123;ENST00000371122;ENST00000450039	D;D;D;D	0.91577	-2.87;-2.87;-2.87;-2.86	5.64	5.64	0.86602	SANT domain, DNA binding (1);SLIDE (1);Homeodomain-like (1);	0.000000	0.64402	D	0.000003	D	0.95357	0.8493	M	0.81614	2.55	0.80722	D	1	D;D;D;D	0.76494	0.997;0.999;0.996;0.997	D;D;D;D	0.67725	0.953;0.953;0.921;0.953	D	0.95514	0.8588	10	0.62326	D	0.03	-18.7469	18.706	0.91639	0.0:1.0:0.0:0.0	.	959;980;968;980	E9PCY3;B7ZLQ5;P28370-2;P28370	.;.;.;SMCA1_HUMAN	H	968;968;980;959	ENSP00000360162:D968H;ENSP00000360164:D968H;ENSP00000360163:D980H;ENSP00000404275:D959H	ENSP00000360162:D968H	D	-	1	0	SMARCA1	128427270	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.769000	0.85360	2.362000	0.80069	0.544000	0.68410	GAT		0.363	SMARCA1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058206.1	NM_003069		22	31	0	0	0	1	0	22	31					G	128599589	C	G	128599589	3	3	295	1	0	0	0	0	1	0	0	0	14768	826	29	5	234	5	SMARCA1	23	128599589	Missense_Mutation	SNP	C	TCGA-KC-A4BN-01A-61D-A257-08	59120963	128599589	26670971	29	14224											
IGSF1	3547	broad.mit.edu	37	chrX	130416523	130416523	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtatcactgtaggttacatTgttgaggaagaatgatgtgt	12	14	12	3	0	1	3	1	2	0	1	1	4	1	4	0	2	1	4	0	2	5	5	rs6637826		TCGA-KC-A4BN-01A-61D-A257-08	TCGA-KC-A4BN-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef4b8185-9003-4a49-ab6c-84a5c0037837	85328a4c-38dc-48a7-8eed-1b4b4ad9e060	g.chrX:130416523T>G	ENST00000361420.3	-	7	1220	c.1141A>C	c.(1141-1143)Aat>Cat	p.N381H	IGSF1_ENST00000370903.3_Missense_Mutation_p.N381H|IGSF1_ENST00000370910.1_Missense_Mutation_p.N372H|IGSF1_ENST00000370904.1_Missense_Mutation_p.N372H			Q8N6C5	IGSF1_HUMAN	immunoglobulin superfamily, member 1	381	Ig-like C2-type 4.		N -> H (in dbSNP:rs6637826).		regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	coreceptor activity (GO:0015026)|inhibin binding (GO:0034711)|receptor activity (GO:0004872)			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						TAGGTTACATTGTTGAGGAAG	0.448													T|||	10	0.00264901	0	0	3775	,	,		14857	0.0099		0	False		,,,				2504	0					ENST00000370904.1																			0				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						c.(1114-1116)Aat>Cat		immunoglobulin superfamily, member 1							189	149	162					X																	130416523		2203	4300	6503	SO:0001583	missense	3547				regulation of transcription, DNA-dependent	extracellular region|integral to membrane	inhibin beta-A binding|inhibin beta-B binding	g.chrX:130416523T>G	AF034198	CCDS14629.1, CCDS14630.1, CCDS55490.1, CCDS55491.1	Xq25	2013-01-11			ENSG00000147255	ENSG00000147255		"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5948	protein-coding gene	gene with protein product		300137				9521868, 9729118	Standard	NM_001555		Approved	KIAA0364, IGDC1, IGCD1, INHBP, MGC75490, PGSF2	uc004ewe.4	Q8N6C5	OTTHUMG00000022406	ENST00000361420.3:c.1141A>C	X.37:g.130416523T>G	ENSP00000355010:p.Asn381His					IGSF1_ENST00000361420.3_Missense_Mutation_p.N381H|IGSF1_ENST00000370910.1_Missense_Mutation_p.N372H|IGSF1_ENST00000370903.3_Missense_Mutation_p.N381H	p.N372H			Q8N6C5	IGSF1_HUMAN			13	2024	-			381			Ig-like C2-type 4.		B5MEG2|H9KV64|O15070|Q9NTC8	Missense_Mutation	SNP	ENST00000361420.3	37	c.1114A>C	CCDS14629.1	2	0.0012055455093429777	0	0.0	0	0.0	3	0.005244755244755245	0	0.0	T	12.07	1.827316	0.32329	.	.	ENSG00000147255	ENST00000370910;ENST00000361420;ENST00000370904;ENST00000370903	T;T;T;T	0.14640	2.49;2.49;2.49;2.49	4.68	3.52	0.40303	Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin (1);Immunoglobulin-like fold (1);	0.556348	0.16852	N	0.196861	T	0.10465	0.0256	N	0.21142	0.635	0.31030	N	0.717509	P;P	0.52842	0.904;0.956	P;P	0.54210	0.542;0.745	T	0.06338	-1.0832	10	0.87932	D	0	.	6.1162	0.20127	0.0:0.1161:0.0:0.8839	rs6637826;rs52804591;rs6637826	372;381	Q8N6C5-2;Q8N6C5	.;IGSF1_HUMAN	H	372;381;372;381	ENSP00000359947:N372H;ENSP00000355010:N381H;ENSP00000359941:N372H;ENSP00000359940:N381H	ENSP00000355010:N381H	N	-	1	0	IGSF1	130244204	1.000000	0.71417	0.997000	0.53966	0.144000	0.21451	1.202000	0.32271	0.743000	0.32719	0.481000	0.45027	AAT		0.448	IGSF1-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058288.1			4	75	0	0	0	1	0	4	75					G	130416523	T	G	130416523	3	3	295	1	0	0	0	0	1	0	0	0	7596	1812	63	5	2940	5	IGSF1	23	130416523	Missense_Mutation	SNP	T	TCGA-KC-A4BN-01A-61D-A257-08	1816934	130416523	24854037	30	14225											
EN1	2019	broad.mit.edu	37	chr2	119604526	119604528	+	In_Frame_Del	DEL	TGC	TGC	-																															gcggggggtgtggggggaggTgcgggtggtgggccaggggc																										TCGA-KC-A4BO-01A-61D-A257-08	TCGA-KC-A4BO-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488dd6cb-687e-4246-bd35-d45f3c5fadf1	785ea44e-05df-43df-8acc-c0fda6852721	g.chr2:119604526_119604528delTGC	ENST00000295206.6	-	1	726_728	c.216_218delGCA	c.(214-219)ccgcac>ccc	p.H73del	EN1_ENST00000546667.1_5'Flank	NM_001426.3	NP_001417.3	Q05925	HME1_HUMAN	engrailed homeobox 1	73					anatomical structure morphogenesis (GO:0009653)|dorsal/ventral pattern formation (GO:0009953)|embryonic forelimb morphogenesis (GO:0035115)|hindbrain development (GO:0030902)|midbrain development (GO:0030901)|midbrain-hindbrain boundary development (GO:0030917)|multicellular organism growth (GO:0035264)|neuron development (GO:0048666)|pigmentation (GO:0043473)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proximal/distal pattern formation (GO:0009954)|response to cocaine (GO:0042220)|skeletal system development (GO:0001501)	membrane (GO:0016020)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			endometrium(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	9						tggggggaggtgcgggtggtggg	0.773																																						ENST00000295206.6																			0				endometrium(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	9						c.(214-219)ccc>cc		engrailed homeobox 1																																				SO:0001651	inframe_deletion	2019				skeletal system development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:119604526_119604528delTGC	L12699	CCDS2123.1	2q14.2	2011-06-20	2007-02-15		ENSG00000163064	ENSG00000163064		"Homeoboxes / ANTP class : NKL subclass"	3342	protein-coding gene	gene with protein product		131290				8094370	Standard	NM_001426		Approved		uc002tlm.3	Q05925	OTTHUMG00000131401	ENST00000295206.6:c.216_218delGCA	2.37:g.119604526_119604528delTGC	ENSP00000295206:p.His73del						p.PH72del	NM_001426.3	NP_001417.3	Q05925	HME1_HUMAN			1	726_728	-			72					Q4ZG44	In_Frame_Del	DEL	ENST00000295206.6	37	c.216_218delGCA	CCDS2123.1																																																																																				0.773	EN1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254191.3			2	4						2	4	---	---	---	---	-	119604528	TGC	-	119604526	7	5	296	1	0	1	0	1	0	0	0	0	5109	1696	59	0	968	0	EN1	2	119604526	In_Frame_Del	DEL	TGC	TCGA-KC-A4BO-01A-61D-A257-08		119604526	123594847	1	14226											
CCDC114	93233	broad.mit.edu	37	chr19	48807367	48807367	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctttctccgcgcgctcccgCagcaagcccatcttggcctt	4	11	8	18	4	3	0	0	0	3	0	5	0	4	0	4	1	2	3	4	1	1	3	rs28582401	byFrequency	TCGA-KC-A4BO-01A-61D-A257-08	TCGA-KC-A4BO-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488dd6cb-687e-4246-bd35-d45f3c5fadf1	785ea44e-05df-43df-8acc-c0fda6852721	g.chr19:48807367C>A	ENST00000315396.7	-	7	1267	c.585G>T	c.(583-585)ctG>ctT	p.L195L		NM_144577.3	NP_653178.3	Q96M63	CC114_HUMAN	coiled-coil domain containing 114	195					outer dynein arm assembly (GO:0036158)	cilium (GO:0005929)|outer dynein arm (GO:0036157)				cervix(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|stomach(1)	24		all_epithelial(76;9.64e-05)|all_lung(116;0.000147)|Lung NSC(112;0.000251)|Prostate(7;0.0187)|all_neural(266;0.0228)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000162)|Epithelial(262;0.0134)|GBM - Glioblastoma multiforme(486;0.0143)		CGCGCTCCCGCAGCAAGCCCA	0.682													C|||	771	0.153954	0.1422	0.0965	5008	,	,		15049	0.124		0.1988	False		,,,				2504	0.1953					ENST00000315396.7																			0				cervix(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|stomach(1)	24						c.(583-585)ctG>ctT		coiled-coil domain containing 114		C		744,3662	296.7+/-284.4	66,612,1525	43	43	43		585	-0.5	1	19	dbSNP_125	43	1589,7011	285.2+/-297.1	159,1271,2870	no	coding-synonymous	CCDC114	NM_144577.3		225,1883,4395	AA,AC,CC		18.4767,16.8861,17.9379		195/671	48807367	2333,10673	2203	4300	6503	SO:0001819	synonymous_variant	93233							g.chr19:48807367C>A	BC025752	CCDS12714.2	19q13.32	2013-02-22			ENSG00000105479	ENSG00000105479			26560	protein-coding gene	gene with protein product		615038				23261302, 23261303	Standard	NM_144577		Approved	FLJ32926, CILD20	uc002pir.2	Q96M63	OTTHUMG00000156161	ENST00000315396.7:c.585G>T	19.37:g.48807367C>A							p.L195L	NM_144577.3	NP_653178.3	Q96M63	CC114_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000162)|Epithelial(262;0.0134)|GBM - Glioblastoma multiforme(486;0.0143)	7	1267	-		all_epithelial(76;9.64e-05)|all_lung(116;0.000147)|Lung NSC(112;0.000251)|Prostate(7;0.0187)|all_neural(266;0.0228)|Ovarian(192;0.113)	195					Q6ZRL4|Q96M06|Q9UFG8	Silent	SNP	ENST00000315396.7	37	c.585G>T	CCDS12714.2																																																																																				0.682	CCDC114-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343207.1	NM_144577		5	55	1	0	5.9392e-07	1	6.6519e-07	5	55					A	48807367	C	A	48807367	2	1	296	1	0	0	0	0	0	0	0	1	2751	697	25	5		5	CCDC114	19	48807367	Silent	SNP	C	TCGA-KC-A4BO-01A-61D-A257-08		48807367	10321616	2	14227											
SBF1	6305	broad.mit.edu	37	chr22	50898528	50898528	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccaggctgctcatggtcatgCggtcggagggcttcagggct	5	9	16	11	2	3	0	3	0	0	0	4	1	3	1	1	6	2	4	1	6	0	1			TCGA-KC-A4BO-01A-61D-A257-08	TCGA-KC-A4BO-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488dd6cb-687e-4246-bd35-d45f3c5fadf1	785ea44e-05df-43df-8acc-c0fda6852721	g.chr22:50898528C>T	ENST00000390679.3	-	26	3528	c.3344G>A	c.(3343-3345)cGc>cAc	p.R1115H	SBF1_ENST00000476293.1_5'Flank|SBF1_ENST00000348911.6_Missense_Mutation_p.R1116H|SBF1_ENST00000380817.3_Missense_Mutation_p.R1115H			O95248	MTMR5_HUMAN	SET binding factor 1	1115					cell death (GO:0008219)|positive regulation of Rab GTPase activity (GO:0032851)|protein dephosphorylation (GO:0006470)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	protein tyrosine/serine/threonine phosphatase activity (GO:0008138)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(8)|large_intestine(3)|lung(18)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	43		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)		CATGGTCATGCGGTCGGAGGG	0.677																																						ENST00000380817.2																			0				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(8)|large_intestine(3)|lung(18)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	43						c.(3343-3345)cGc>cAc		SET binding factor 1							41	50	47					22																	50898528		2201	4299	6500	SO:0001583	missense	6305				protein dephosphorylation	integral to membrane|nucleus	protein tyrosine/serine/threonine phosphatase activity	g.chr22:50898528C>T	U93181	CCDS14091.1, CCDS14091.2	22q13.33	2013-01-10			ENSG00000100241	ENSG00000100241		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins", "DENN/MADD domain containing", "Pleckstrin homology (PH) domain containing"	10542	protein-coding gene	gene with protein product	"myotubularin related 5", "DENN/MADD domain containing 7A"	603560				9537414, 9736772	Standard	NM_002972		Approved	MTMR5, DENND7A	uc003blh.3	O95248	OTTHUMG00000150204	ENST00000390679.3:c.3344G>A	22.37:g.50898528C>T	ENSP00000375097:p.Arg1115His					SBF1_ENST00000390679.3_Missense_Mutation_p.R1115H|SBF1_ENST00000348911.6_Missense_Mutation_p.R1116H	p.R1115H	NM_002972.2	NP_002963.2	O95248	MTMR5_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)	26	3527	-		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)	1115					A6PVG9|O60228|Q5JXD8|Q5PPM2|Q96GR9|Q9UGB8	Missense_Mutation	SNP	ENST00000390679.3	37	c.3344G>A		.	.	.	.	.	.	.	.	.	.	C	21.6	4.171091	0.78452	.	.	ENSG00000100241	ENST00000380817;ENST00000348911;ENST00000337034;ENST00000390679	T;T;T	0.10288	2.89;2.89;2.89	4.28	4.28	0.50868	.	0.075299	0.48767	D	0.000173	T	0.15176	0.0366	L	0.34521	1.04	0.42982	D	0.994465	D;D	0.76494	0.989;0.999	P;P	0.62014	0.715;0.897	T	0.03060	-1.1077	10	0.35671	T	0.21	.	5.5037	0.16842	0.0:0.744:0.0:0.256	.	1115;1115	O95248;O95248-4	MTMR5_HUMAN;.	H	1115;1116;1125;1115	ENSP00000370196:R1115H;ENSP00000252027:R1116H;ENSP00000375097:R1115H	ENSP00000336522:R1125H	R	-	2	0	SBF1	49245394	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.595000	0.46197	2.196000	0.70406	0.561000	0.74099	CGC		0.677	SBF1-201	KNOWN	basic	protein_coding	protein_coding				4	43	0	0	0	1	0	4	43					T	50898528	C	T	50898528	3	4	296	1	0	0	0	0	1	0	0	0	13858	768	27	1	2401	1	SBF1	22	50898528	Missense_Mutation	SNP	C	TCGA-KC-A4BO-01A-61D-A257-08		50898528	406038	3	14228											
SPATA21	374955	broad.mit.edu	37	chr1	16727315	16727315	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ttgtagggaagcttctgcaaCcgcagccggcctacggccgc	7	7	13	14	4	1	0	0	0	1	0	1	1	1	1	4	3	5	4	4	3	4	4			TCGA-KC-A4BR-01A-32D-A257-08	TCGA-KC-A4BR-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c9ec16d-4591-4e56-8326-9e7883d88483	fee0aa5b-cffd-48d4-bf3c-118855f4ecda	g.chr1:16727315C>A	ENST00000335496.1	-	11	1556	c.1074G>T	c.(1072-1074)cgG>cgT	p.R358R	SPATA21_ENST00000540400.1_Silent_p.R335R|SPATA21_ENST00000466212.1_5'UTR	NM_198546.1	NP_940948.1	Q7Z572	SPT21_HUMAN	spermatogenesis associated 21	358							calcium ion binding (GO:0005509)			breast(1)|endometrium(2)|lung(8)|ovary(2)|pancreas(3)|stomach(1)|urinary_tract(2)	19		Colorectal(325;0.000147)|Renal(390;0.00145)|Lung NSC(340;0.00215)|Breast(348;0.00224)|all_lung(284;0.00351)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(227;1.15e-05)|BRCA - Breast invasive adenocarcinoma(304;4.2e-05)|Kidney(64;0.000183)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(313;0.0122)|READ - Rectum adenocarcinoma(331;0.0651)		GCTTCTGCAACCGCAGCCGGC	0.577																																						ENST00000335496.1																			0				breast(1)|endometrium(2)|lung(8)|ovary(2)|pancreas(3)|stomach(1)|urinary_tract(2)	19						c.(1072-1074)cgG>cgT		spermatogenesis associated 21							114	130	125					1																	16727315		2203	4300	6503	SO:0001819	synonymous_variant	374955						calcium ion binding	g.chr1:16727315C>A		CCDS172.1	1p36.13	2013-01-10			ENSG00000187144	ENSG00000187144		"EF-hand domain containing"	28026	protein-coding gene	gene with protein product							Standard	NM_198546		Approved	spergen-2, spergen2	uc001ayn.3	Q7Z572	OTTHUMG00000002312	ENST00000335496.1:c.1074G>T	1.37:g.16727315C>A						SPATA21_ENST00000540400.1_Silent_p.R335R|SPATA21_ENST00000466212.1_5'UTR	p.R358R	NM_198546.1	NP_940948.1	Q7Z572	SPT21_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(227;1.15e-05)|BRCA - Breast invasive adenocarcinoma(304;4.2e-05)|Kidney(64;0.000183)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(313;0.0122)|READ - Rectum adenocarcinoma(331;0.0651)	11	1556	-		Colorectal(325;0.000147)|Renal(390;0.00145)|Lung NSC(340;0.00215)|Breast(348;0.00224)|all_lung(284;0.00351)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)	358					B9EK40|F5GXP5	Silent	SNP	ENST00000335496.1	37	c.1074G>T	CCDS172.1																																																																																				0.577	SPATA21-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000006677.2	NM_198546		8	180	1	0	5.18039e-06	1	6.04379e-06	8	180					A	16727315	C	A	16727315	2	1	297	1	0	0	0	0	0	0	0	1	15006	494	18	5		5	SPATA21	1	16727315	Silent	SNP	C	TCGA-KC-A4BR-01A-32D-A257-08		16727315	232523306	1	14229											
TAS1R2	80834	broad.mit.edu	37	chr1	19166742	19166742	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggcaggtggagaccttgggcGgccccacgtacaccgggacc	7	4	16	14	3	0	1	0	0	0	1	0	3	0	2	5	6	1	2	5	6	1	2			TCGA-KC-A4BR-01A-32D-A257-08	TCGA-KC-A4BR-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c9ec16d-4591-4e56-8326-9e7883d88483	fee0aa5b-cffd-48d4-bf3c-118855f4ecda	g.chr1:19166742G>A	ENST00000375371.3	-	6	1892	c.1871C>T	c.(1870-1872)cCg>cTg	p.P624L		NM_152232.2	NP_689418.2	Q8TE23	TS1R2_HUMAN	taste receptor, type 1, member 2	624					detection of chemical stimulus involved in sensory perception of sweet taste (GO:0001582)|G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cytokinesis (GO:0032467)|sensory perception of sweet taste (GO:0050916)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	protein heterodimerization activity (GO:0046982)|taste receptor activity (GO:0008527)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(10)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(3)|stomach(1)	45		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;3.56e-05)|Kidney(64;0.000177)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	Aspartame(DB00168)	GACCTTGGGCGGCCCCACGTA	0.612																																						ENST00000375371.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(10)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(3)|stomach(1)	45						c.(1870-1872)cCg>cTg		taste receptor, type 1, member 2	Aspartame(DB00168)						71	71	71					1																	19166742		2203	4300	6503	SO:0001583	missense	80834				detection of chemical stimulus involved in sensory perception of sweet taste	plasma membrane	protein heterodimerization activity|taste receptor activity	g.chr1:19166742G>A		CCDS187.1	1p36.13	2012-08-22	2003-03-07		ENSG00000179002	ENSG00000179002		"Taste receptors / Type 1", "GPCR / Unclassified : Taste receptors"	14905	protein-coding gene	gene with protein product		606226	"G protein-coupled receptor 71"	GPR71			Standard	NM_152232		Approved	T1R2, TR2	uc001bba.1	Q8TE23	OTTHUMG00000002442	ENST00000375371.3:c.1871C>T	1.37:g.19166742G>A	ENSP00000364520:p.Pro624Leu						p.P624L	NM_152232.2	NP_689418.2	Q8TE23	TS1R2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;3.56e-05)|Kidney(64;0.000177)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	6	1892	-		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)	624					Q5TZ19	Missense_Mutation	SNP	ENST00000375371.3	37	c.1871C>T	CCDS187.1	.	.	.	.	.	.	.	.	.	.	G	7.756	0.704297	0.15172	.	.	ENSG00000179002	ENST00000375371	D	0.87809	-2.3	5.52	-6.56	0.01848	GPCR, family 3, C-terminal (2);	0.916624	0.09151	N	0.841576	T	0.74473	0.3721	L	0.37850	1.14	0.26714	N	0.970918	B	0.10296	0.003	B	0.12156	0.007	T	0.59705	-0.7404	10	0.52906	T	0.07	.	2.249	0.04039	0.1349:0.1822:0.2886:0.3943	.	624	Q8TE23	TS1R2_HUMAN	L	624	ENSP00000364520:P624L	ENSP00000364520:P624L	P	-	2	0	TAS1R2	19039329	0.000000	0.05858	0.546000	0.28166	0.088000	0.18126	-0.628000	0.05515	-0.910000	0.03847	-0.258000	0.10820	CCG		0.612	TAS1R2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000006953.1			7	77	0	0	0	1	0	7	77					A	19166742	G	A	19166742	3	1	297	1	0	0	0	0	1	0	0	0	15560	1116	39	2	652	2	TAS1R2	1	19166742	Missense_Mutation	SNP	G	TCGA-KC-A4BR-01A-32D-A257-08	2439427	19166742	230083879	2	14230											
LRP1B	53353	broad.mit.edu	37	chr2	141092024	141092024	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgtgtcagaaatcatacctGtgggtctctgtaagttcttt	8	16	10	7	0	4	1	2	0	2	1	5	1	4	1	1	1	1	2	1	1	3	4			TCGA-KC-A4BR-01A-32D-A257-08	TCGA-KC-A4BR-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c9ec16d-4591-4e56-8326-9e7883d88483	fee0aa5b-cffd-48d4-bf3c-118855f4ecda	g.chr2:141092024G>T	ENST00000389484.3	-	79	13192	c.12221C>A	c.(12220-12222)aCa>aAa	p.T4074K		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	4074					protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		AATCATACCTGTGGGTCTCTG	0.363										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	ENST00000389484.3																			0				NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606						c.(12220-12222)aCa>aAa		low density lipoprotein receptor-related protein 1B							152	141	145					2																	141092024		2203	4300	6503	SO:0001583	missense	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141092024G>T	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"Low density lipoprotein receptors"	6693	protein-coding gene	gene with protein product	"LRP-deleted in tumors"	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.12221C>A	2.37:g.141092024G>T	ENSP00000374135:p.Thr4074Lys	TSP Lung(27;0.18)					p.T4074K	NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)	79	13192	-		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)	4074					Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	c.12221C>A	CCDS2182.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	33|33	5.235790|5.235790	0.95240|0.95240	.|.	.|.	ENSG00000168702|ENSG00000168702	ENST00000437977|ENST00000389484;ENST00000544579	.|D	.|0.95980	.|-3.87	6.08|6.08	6.08|6.08	0.98989|0.98989	.|Six-bladed beta-propeller, TolB-like (1);Growth factor, receptor (1);	.|0.064457	.|0.64402	.|D	.|0.000009	D|D	0.97002|0.97002	0.9021|0.9021	L|L	0.46947|0.46947	1.48|1.48	0.58432|0.58432	D|D	0.999993|0.999993	.|D	.|0.89917	.|1.0	.|D	.|0.87578	.|0.998	D|D	0.96775|0.96775	0.9571|0.9571	5|10	.|0.59425	.|D	.|0.04	.|.	20.6721|20.6721	0.99693|0.99693	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|4074	.|Q9NZR2	.|LRP1B_HUMAN	K|K	306|4074;4012	.|ENSP00000374135:T4074K	.|ENSP00000374135:T4074K	Q|T	-|-	1|2	0|0	LRP1B|LRP1B	140808494|140808494	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.881000|0.881000	0.50899|0.50899	9.231000|9.231000	0.95317|0.95317	2.894000|2.894000	0.99253|0.99253	0.591000|0.591000	0.81541|0.81541	CAG|ACA		0.363	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		4	50	1	0	0.150653	1	0.150653	4	50					T	141092024	G	T	141092024	3	4	297	1	0	0	0	0	1	0	0	0	8955	1377	48	5	1630	5	LRP1B	2	141092024	Missense_Mutation	SNP	G	TCGA-KC-A4BR-01A-32D-A257-08		141092024	102107349	3	14231											
HIST1H2BG	8339	broad.mit.edu	37	chr6	26216864	26216864	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggagctgacttagctggtTcaggcatgctgtcagaaaac	11	9	12	9	0	2	2	2	1	0	1	2	3	2	3	0	3	4	5	0	3	3	2			TCGA-KC-A4BR-01A-32D-A257-08	TCGA-KC-A4BR-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c9ec16d-4591-4e56-8326-9e7883d88483	fee0aa5b-cffd-48d4-bf3c-118855f4ecda	g.chr6:26216864T>A	ENST00000244601.3	-	1	8	c.8A>T	c.(7-9)gAa>gTa	p.E3V	HIST1H2AE_ENST00000303910.2_5'Flank	NM_003518.3	NP_003509.1	P62807	H2B1C_HUMAN	histone cluster 1, H2bg	3					antibacterial humoral response (GO:0019731)|chromatin organization (GO:0006325)|defense response to Gram-positive bacterium (GO:0050830)|innate immune response in mucosa (GO:0002227)|nucleosome assembly (GO:0006334)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	8		all_hematologic(11;0.196)				CTTAGCTGGTTCAGGCATGCT	0.478																																						ENST00000244601.3																			0				endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	8						c.(7-9)gAa>gTa		histone cluster 1, H2bg							83	78	80					6																	26216864		2203	4300	6503	SO:0001583	missense	8339				defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding	g.chr6:26216864T>A	M60750	CCDS4594.1	6p21.3	2011-01-27	2006-10-11	2003-02-14	ENSG00000187990	ENSG00000273802		"Histones / Replication-dependent"	4746	protein-coding gene	gene with protein product		602798	"H2B histone family, member A", "histone 1, H2bg"	H2BFA		1916825, 12408966	Standard	NM_003518		Approved	H2B/a, H2B.1A	uc003ngz.2	P62807	OTTHUMG00000014446	ENST00000244601.3:c.8A>T	6.37:g.26216864T>A	ENSP00000244601:p.Glu3Val						p.E3V	NM_003518.3	NP_003509.1	P62807	H2B1C_HUMAN			1	8	-		all_hematologic(11;0.196)	3					P02278|Q3B872|Q4VB69|Q93078|Q93080	Missense_Mutation	SNP	ENST00000244601.3	37	c.8A>T	CCDS4594.1	.	.	.	.	.	.	.	.	.	.	.	10.70	1.424347	0.25639	.	.	ENSG00000187990	ENST00000244601	T	0.19250	2.16	3.9	3.9	0.45041	.	.	.	.	.	T	0.23688	0.0573	.	.	.	0.34722	D	0.72883	.	.	.	.	.	.	T	0.05007	-1.0912	6	0.87932	D	0	.	12.3389	0.55083	0.0:0.0:0.0:1.0	.	.	.	.	V	3	ENSP00000244601:E3V	ENSP00000244601:E3V	E	-	2	0	HIST1H2BG	26324843	1.000000	0.71417	0.841000	0.33234	0.007000	0.05969	5.732000	0.68563	1.756000	0.51951	0.533000	0.62120	GAA		0.478	HIST1H2BG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040109.2	NM_003518		7	75	0	0	0	1	0	7	75					A	26216864	T	A	26216864	3	1	297	1	0	0	0	0	1	0	0	0	7146	1783	62	5	376	5	HIST1H2BG	6	26216864	Missense_Mutation	SNP	T	TCGA-KC-A4BR-01A-32D-A257-08		26216864	144898203	4	14232											
FIGNL1	63979	broad.mit.edu	37	chr7	50514797	50514797	+	Frame_Shift_Del	DEL	T	T	-																															ataattgcagaatatttctcTgcatattttttgaacagttt																										TCGA-KC-A4BR-01A-32D-A257-08	TCGA-KC-A4BR-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c9ec16d-4591-4e56-8326-9e7883d88483	fee0aa5b-cffd-48d4-bf3c-118855f4ecda	g.chr7:50514797delT	ENST00000419119.1	-	2	1742	c.189delA	c.(187-189)gcafs	p.A63fs	FIGNL1_ENST00000435566.1_Intron|FIGNL1_ENST00000356889.4_Frame_Shift_Del_p.A63fs|FIGNL1_ENST00000433017.1_Frame_Shift_Del_p.A63fs|FIGNL1_ENST00000395556.2_Frame_Shift_Del_p.A63fs			Q6PIW4	FIGL1_HUMAN	fidgetin-like 1	63					ATP metabolic process (GO:0046034)|cellular response to ionizing radiation (GO:0071479)|negative regulation of apoptotic process (GO:0043066)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|osteoblast differentiation (GO:0001649)|osteoblast proliferation (GO:0033687)|regulation of cell cycle (GO:0051726)|regulation of double-strand break repair via homologous recombination (GO:0010569)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear chromosome (GO:0000228)|nucleus (GO:0005634)	ATP binding (GO:0005524)|hydrolase activity (GO:0016787)|magnesium ion binding (GO:0000287)			endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(3)|prostate(3)|upper_aerodigestive_tract(1)	29	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;3.73e-08)|all_hematologic(4;7.51e-06)				AATATTTCTCTGCATATTTTT	0.373																																						ENST00000419119.1																			0				endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(3)|prostate(3)|upper_aerodigestive_tract(1)	29						c.(187-189)gcfs		fidgetin-like 1							75	72	73					7																	50514797		2203	4300	6503	SO:0001589	frameshift_variant	63979				ATP metabolic process|negative regulation of apoptosis|osteoblast differentiation|osteoblast proliferation|regulation of cell cycle	cytoplasm|nucleus	ATP binding|magnesium ion binding|nucleoside-triphosphatase activity	g.chr7:50514797delT	AK023142	CCDS5510.1	7p12.2	2010-04-21			ENSG00000132436	ENSG00000132436		"ATPases / AAA-type"	13286	protein-coding gene	gene with protein product		615383					Standard	XM_005271783		Approved		uc003tpc.3	Q6PIW4	OTTHUMG00000022866	ENST00000419119.1:c.189delA	7.37:g.50514797delT	ENSP00000410811:p.Ala63fs					FIGNL1_ENST00000435566.1_Intron|FIGNL1_ENST00000433017.1_Frame_Shift_Del_p.A63fs|FIGNL1_ENST00000356889.4_Frame_Shift_Del_p.A63fs|FIGNL1_ENST00000395556.2_Frame_Shift_Del_p.A63fs	p.A63fs			Q6PIW4	FIGL1_HUMAN			2	1742	-	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;3.73e-08)|all_hematologic(4;7.51e-06)	63					D3DVM6|Q86V18|Q8ND59|Q9H8P1|Q9H917	Frame_Shift_Del	DEL	ENST00000419119.1	37	c.189delA	CCDS5510.1																																																																																				0.373	FIGNL1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342579.1	NM_001042762		7	62						7	62	---	---	---	---	-	50514797	T	-	50514797	7	5	297	1	0	1	0	1	0	0	0	0	5892	1567	55	0	1839	0	FIGNL1	7	50514797	Frame_Shift_Del	DEL	T	TCGA-KC-A4BR-01A-32D-A257-08		50514797	108623866	5	14233											
PGR	5241	broad.mit.edu	37	chr11	100933406	100933406	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggcttggctttcatttggaaCgcccactggctgtgggagag	6	11	15	9	1	1	1	1	0	0	1	1	3	1	2	1	5	1	3	1	5	1	3	rs150584881		TCGA-KC-A4BR-01A-32D-A257-08	TCGA-KC-A4BR-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c9ec16d-4591-4e56-8326-9e7883d88483	fee0aa5b-cffd-48d4-bf3c-118855f4ecda	g.chr11:100933406C>T	ENST00000325455.5	-	4	3437	c.1984G>A	c.(1984-1986)Gtt>Att	p.V662I	PGR_ENST00000534013.1_Missense_Mutation_p.V68I|PGR_ENST00000263463.5_Intron	NM_000926.4|NM_001202474.1|NM_001271162.1	NP_000917.3|NP_001189403.1|NP_001258091.1	P06401	PRGR_HUMAN	progesterone receptor	662					cell-cell signaling (GO:0007267)|epithelial cell maturation (GO:0002070)|gene expression (GO:0010467)|negative regulation of gene expression (GO:0010629)|ovulation from ovarian follicle (GO:0001542)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|progesterone receptor signaling pathway (GO:0050847)|regulation of epithelial cell proliferation (GO:0050678)|signal transduction (GO:0007165)|tertiary branching involved in mammary gland duct morphogenesis (GO:0060748)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mitochondrial outer membrane (GO:0005741)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|receptor binding (GO:0005102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)	p.V662I(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|liver(1)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	36		Acute lymphoblastic leukemia(157;0.000885)|all_hematologic(158;0.014)		LUSC - Lung squamous cell carcinoma(1;0.0387)|BRCA - Breast invasive adenocarcinoma(274;0.124)|OV - Ovarian serous cystadenocarcinoma(223;0.148)|Lung(307;0.164)	Allylestrenol(DB01431)|Danazol(DB01406)|Desogestrel(DB00304)|Drospirenone(DB01395)|Dydrogesterone(DB00378)|Ethynodiol(DB00823)|Etonogestrel(DB00294)|Fluticasone Propionate(DB00588)|Levonorgestrel(DB00367)|Medroxyprogesterone Acetate(DB00603)|Megestrol acetate(DB00351)|Mifepristone(DB00834)|Norelgestromin(DB06713)|Norethindrone(DB00717)|Norgestimate(DB00957)|Progesterone(DB00396)|Spironolactone(DB00421)	TCATTTGGAACGCCCACTGGC	0.418													T|||	1	0.000199681	8e-04	0	5008	,	,		15128	0		0	False		,,,				2504	0				Pancreas(124;2271 2354 21954 22882)	ENST00000325455.5																			1	Substitution - Missense(1)	p.V662I(1)	large_intestine(1)	NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|liver(1)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	36						c.(1984-1986)Gtt>Att		progesterone receptor	Desogestrel(DB00304)|Drospirenone(DB01395)|Dydrogesterone(DB00378)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Mifepristone(DB00834)|Norethindrone(DB00717)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396)	T	ILE/VAL,ILE/VAL	1,4405	826.1+/-416.6	0,1,2202	136	118	124		1984,1492	-0.1	0.5	11	dbSNP_134	124	0,8600		0,0,4300	no	missense,missense	PGR	NM_000926.4,NM_001202474.1	29,29	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign,benign	662/934,498/770	100933406	1,13005	2203	4300	6503	SO:0001583	missense	5241				cell-cell signaling|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	enzyme binding|receptor binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding	g.chr11:100933406C>T	M15716	CCDS8310.1, CCDS59229.1	11q22-q23	2013-01-16			ENSG00000082175	ENSG00000082175		"Nuclear hormone receptors"	8910	protein-coding gene	gene with protein product		607311					Standard	NM_000926		Approved	PR, NR3C3	uc001pgh.2	P06401	OTTHUMG00000167531	ENST00000325455.5:c.1984G>A	11.37:g.100933406C>T	ENSP00000325120:p.Val662Ile					PGR_ENST00000534013.1_Missense_Mutation_p.V68I|PGR_ENST00000263463.5_Intron	p.V662I	NM_000926.4|NM_001202474.1	NP_000917.3|NP_001189403.1	P06401	PRGR_HUMAN		LUSC - Lung squamous cell carcinoma(1;0.0387)|BRCA - Breast invasive adenocarcinoma(274;0.124)|OV - Ovarian serous cystadenocarcinoma(223;0.148)|Lung(307;0.164)	4	3437	-		Acute lymphoblastic leukemia(157;0.000885)|all_hematologic(158;0.014)	662					A7LQ08|A7X8B0|B4E3T0|Q8TDS3|Q9UPF7	Missense_Mutation	SNP	ENST00000325455.5	37	c.1984G>A	CCDS8310.1	.	.	.	.	.	.	.	.	.	.	T	0.534	-0.856734	0.02630	2.27E-4	0.0	ENSG00000082175	ENST00000325455;ENST00000534013	D;D	0.86366	-1.67;-2.11	5.41	-0.113	0.13568	Nuclear hormone receptor, ligand-binding (1);	0.567138	0.17572	N	0.169458	T	0.63034	0.2477	N	0.01168	-0.975	0.80722	D	1	B;B	0.10296	0.001;0.003	B;B	0.04013	0.0;0.001	T	0.45644	-0.9247	10	0.12103	T	0.63	.	11.1076	0.48212	0.0:0.1593:0.6508:0.1899	.	662;43	P06401;A7LQ08	PRGR_HUMAN;.	I	662;68	ENSP00000325120:V662I;ENSP00000436561:V68I	ENSP00000325120:V662I	V	-	1	0	PGR	100438616	0.999000	0.42202	0.496000	0.27539	0.659000	0.38960	0.745000	0.26259	-0.285000	0.09089	-1.411000	0.01122	GTT		0.418	PGR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394934.1			7	98	0	0	0	1	0	7	98					T	100933406	C	T	100933406	3	4	297	1	0	0	0	0	1	0	0	0	11805	536	19	1	837	1	PGR	11	100933406	Missense_Mutation	SNP	C	TCGA-KC-A4BR-01A-32D-A257-08		100933406	34073110	6	14234											
OR10G4	390264	broad.mit.edu	37	chr11	123886818	123886818	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atccagcactacttctgtgaCgcaccgcccatcctgaaact	10	9	6	16	2	1	2	0	2	1	0	3	2	3	2	4	0	3	2	4	0	2	2	rs140418650	byFrequency	TCGA-KC-A4BR-01A-32D-A257-08	TCGA-KC-A4BR-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c9ec16d-4591-4e56-8326-9e7883d88483	fee0aa5b-cffd-48d4-bf3c-118855f4ecda	g.chr11:123886818C>T	ENST00000320891.4	+	1	537	c.537C>T	c.(535-537)gaC>gaT	p.D179D		NM_001004462.1	NP_001004462.1	Q8NGN3	O10G4_HUMAN	olfactory receptor, family 10, subfamily G, member 4	179						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)|skin(4)|stomach(6)|upper_aerodigestive_tract(1)	48		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401)		ACTTCTGTGACGCACCGCCCA	0.542																																						ENST00000320891.4																			0				NS(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)|skin(4)|stomach(6)|upper_aerodigestive_tract(1)	48						c.(535-537)gaC>gaT		olfactory receptor, family 10, subfamily G, member 4							191	163	173					11																	123886818		2201	4297	6498	SO:0001819	synonymous_variant	390264				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:123886818C>T	AB065757	CCDS31702.1	11q24.1	2012-08-09			ENSG00000254737	ENSG00000254737		"GPCR / Class A : Olfactory receptors"	14809	protein-coding gene	gene with protein product							Standard	NM_001004462		Approved		uc010sac.2	Q8NGN3	OTTHUMG00000165966	ENST00000320891.4:c.537C>T	11.37:g.123886818C>T							p.D179D	NM_001004462.1	NP_001004462.1	Q8NGN3	O10G4_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401)	1	537	+		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	179					Q6IEW0	Silent	SNP	ENST00000320891.4	37	c.537C>T	CCDS31702.1																																																																																				0.542	OR10G4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387268.1	NM_001004462		9	144	0	0	0	1	0	9	144					T	123886818	C	T	123886818	2	4	297	1	0	0	0	0	0	0	0	1	10901	535	19	1		1	OR10G4	11	123886818	Silent	SNP	C	TCGA-KC-A4BR-01A-32D-A257-08	22953412	123886818	11119698	7	14235											
FBXL14	144699	broad.mit.edu	37	chr12	1703090	1703090	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaggtgcagcttggcctccAccccccgccacaccgacttg	6	6	10	19	2	0	0	0	0	0	0	1	1	1	0	7	2	2	3	7	2	0	2			TCGA-KC-A4BR-01A-32D-A257-08	TCGA-KC-A4BR-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c9ec16d-4591-4e56-8326-9e7883d88483	fee0aa5b-cffd-48d4-bf3c-118855f4ecda	g.chr12:1703090A>C	ENST00000339235.3	-	1	241	c.143T>G	c.(142-144)gTg>gGg	p.V48G	FBXL14_ENST00000543278.1_5'Flank|WNT5B_ENST00000537031.1_Intron	NM_152441.2	NP_689654.1	Q8N1E6	FXL14_HUMAN	F-box and leucine-rich repeat protein 14	48	F-box.|Required for down-regulation of SNAI1.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	ubiquitin-protein transferase activity (GO:0004842)			endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)	8	Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.00115)			CTTGGCCTCCACCCCCCGCCA	0.731																																						ENST00000339235.3																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)	8						c.(142-144)gTg>gGg		F-box and leucine-rich repeat protein 14							7	9	8					12																	1703090		2147	4245	6392	SO:0001583	missense	144699					cytoplasm		g.chr12:1703090A>C	BC028132	CCDS8509.1	12p13.33	2011-06-09			ENSG00000171823	ENSG00000171823		"F-boxes / Leucine-rich repeats"	28624	protein-coding gene	gene with protein product		609081				12477932	Standard	NM_152441		Approved	MGC40195, Fbl14	uc001qjh.3	Q8N1E6	OTTHUMG00000090369	ENST00000339235.3:c.143T>G	12.37:g.1703090A>C	ENSP00000344855:p.Val48Gly					WNT5B_ENST00000537031.1_Intron	p.V48G	NM_152441.2	NP_689654.1	Q8N1E6	FXL14_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00115)		1	241	-	Ovarian(42;0.107)		48			F-box.|Required for down-regulation of SNAI1.			Missense_Mutation	SNP	ENST00000339235.3	37	c.143T>G	CCDS8509.1	.	.	.	.	.	.	.	.	.	.	A	16.95	3.263601	0.59431	.	.	ENSG00000171823	ENST00000339235	T	0.56776	0.44	4.03	4.03	0.46877	F-box domain, cyclin-like (1);	0.155201	0.43260	D	0.000588	T	0.74913	0.3779	M	0.93678	3.445	0.80722	D	1	D	0.76494	0.999	D	0.81914	0.995	T	0.78001	-0.2375	10	0.87932	D	0	.	6.3942	0.21603	0.8088:0.0:0.1912:0.0	.	48	Q8N1E6	FXL14_HUMAN	G	48	ENSP00000344855:V48G	ENSP00000344855:V48G	V	-	2	0	FBXL14	1573351	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	7.648000	0.83479	1.684000	0.51022	0.254000	0.18369	GTG		0.731	FBXL14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206741.1	NM_152441		6	7	0	0	0	1	0	6	7					C	1703090	A	C	1703090	3	2	297	1	0	0	0	0	1	0	0	0	5710	159	6	5	1121	5	FBXL14	12	1703090	Missense_Mutation	SNP	A	TCGA-KC-A4BR-01A-32D-A257-08		1703090	132148805	8	14236											
NCOR2	9612	broad.mit.edu	37	chr12	124862887	124862887	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcctcctcgctggccgccGccggcgctttcttcttcttc	1	12	9	19	5	3	0	0	0	3	0	6	0	4	0	5	2	1	2	5	2	0	4	rs200172145		TCGA-KC-A4BR-01A-32D-A257-08	TCGA-KC-A4BR-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c9ec16d-4591-4e56-8326-9e7883d88483	fee0aa5b-cffd-48d4-bf3c-118855f4ecda	g.chr12:124862887G>A	ENST00000405201.1	-	18	2063	c.2063C>T	c.(2062-2064)gCg>gTg	p.A688V	NCOR2_ENST00000397355.1_Missense_Mutation_p.A688V|NCOR2_ENST00000404121.2_Missense_Mutation_p.A258V|NCOR2_ENST00000404621.1_Missense_Mutation_p.A687V|NCOR2_ENST00000429285.2_Missense_Mutation_p.A687V|NCOR2_ENST00000356219.3_Missense_Mutation_p.A688V			Q9Y618	NCOR2_HUMAN	nuclear receptor corepressor 2	688					cellular lipid metabolic process (GO:0044255)|gene expression (GO:0010467)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|regulation of cellular ketone metabolic process by negative regulation of transcription from RNA polymerase II promoter (GO:0072365)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	membrane (GO:0016020)|nuclear body (GO:0016604)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone deacetylase binding (GO:0042826)|Notch binding (GO:0005112)|protein N-terminus binding (GO:0047485)|transcription corepressor activity (GO:0003714)			breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		GCTGGCCGCCGCCGGCGCTTT	0.662													G|||	1	0.000199681	0	0	5008	,	,		15850	0		0.001	False		,,,				2504	0					ENST00000356219.3																			0				breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						c.(2062-2064)gCg>gTg		nuclear receptor corepressor 2		G	VAL/ALA,VAL/ALA,VAL/ALA	1,3971		0,1,1985	37	45	42		2060,2060,2063	4.5	0.1	12		42	3,8287		0,3,4142	yes	missense,missense,missense	NCOR2	NM_001077261.3,NM_001206654.1,NM_006312.5	64,64,64	0,4,6127	AA,AG,GG		0.0362,0.0252,0.0326	possibly-damaging,possibly-damaging,possibly-damaging	687/2459,687/2505,688/2515	124862887	4,12258	1986	4145	6131	SO:0001583	missense	9612				cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity	g.chr12:124862887G>A	U37146	CCDS41857.1, CCDS41858.1, CCDS41857.2, CCDS41858.2, CCDS55892.1	12q24	2010-06-10	2010-06-10		ENSG00000196498	ENSG00000196498			7673	protein-coding gene	gene with protein product		600848	"nuclear receptor co-repressor 2"			7566127, 8813722	Standard	NM_001077261		Approved	SMRT, SMRTE, TRAC-1, CTG26, TNRC14	uc010tbb.2	Q9Y618	OTTHUMG00000150455	ENST00000405201.1:c.2063C>T	12.37:g.124862887G>A	ENSP00000384018:p.Ala688Val					NCOR2_ENST00000405201.1_Missense_Mutation_p.A688V|NCOR2_ENST00000404621.1_Missense_Mutation_p.A687V|NCOR2_ENST00000404121.2_Missense_Mutation_p.A258V|NCOR2_ENST00000397355.1_Missense_Mutation_p.A688V|NCOR2_ENST00000429285.2_Missense_Mutation_p.A687V	p.A688V	NM_006312.5	NP_006303.4	Q9Y618	NCOR2_HUMAN		Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)	19	2218	-	all_neural(191;0.0804)|Medulloblastoma(191;0.163)		688					O00613|O15416|O15421|Q13354|Q56D06|Q59GM0|Q9Y5U0	Missense_Mutation	SNP	ENST00000405201.1	37	c.2063C>T	CCDS41858.2	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	G	6.971	0.549131	0.13312	2.52E-4	3.62E-4	ENSG00000196498	ENST00000405201;ENST00000404621;ENST00000356219;ENST00000397355;ENST00000447011;ENST00000404121;ENST00000429285;ENST00000458234;ENST00000448614	T;T;T;T;T;T;T;T	0.31247	1.5;1.5;1.5;1.5;1.5;1.5;1.5;1.5	4.52	4.52	0.55395	.	0.059788	0.64402	D	0.000003	T	0.24547	0.0595	L	0.42245	1.32	0.18873	N	0.999986	P;P;P	0.48407	0.854;0.854;0.91	B;B;B	0.38985	0.149;0.149;0.287	T	0.21999	-1.0229	10	0.46703	T	0.11	-16.7196	11.1846	0.48648	0.0858:0.0:0.9142:0.0	.	687;688;688	C9J0Q5;C9J239;C9JFD3	.;.;.	V	688;687;688;688;688;258;687;688;78	ENSP00000384018:A688V;ENSP00000384202:A687V;ENSP00000348551:A688V;ENSP00000380513:A688V;ENSP00000385618:A258V;ENSP00000400281:A687V;ENSP00000402808:A688V;ENSP00000408247:A78V	ENSP00000348551:A688V	A	-	2	0	NCOR2	123428840	1.000000	0.71417	0.077000	0.20336	0.122000	0.20287	5.793000	0.69060	2.221000	0.72209	0.462000	0.41574	GCG		0.662	NCOR2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318173.2	NM_006312		3	30	0	0	0	1	0	3	30					A	124862887	G	A	124862887	3	1	297	1	0	0	0	0	1	0	0	0	10236	1087	38	1	5625	1	NCOR2	12	124862887	Missense_Mutation	SNP	G	TCGA-KC-A4BR-01A-32D-A257-08	123159797	124862887	8989008	9	14237											
ITGA2B	3674	broad.mit.edu	37	chr17	42461065	42461065	+	Frame_Shift_Del	DEL	C	C	-																															tggagcgcccaccagcagatCatgcctcctgtgggccagat																										TCGA-KC-A4BR-01A-32D-A257-08	TCGA-KC-A4BR-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c9ec16d-4591-4e56-8326-9e7883d88483	fee0aa5b-cffd-48d4-bf3c-118855f4ecda	g.chr17:42461065delC	ENST00000262407.5	-	12	1037	c.1006delG	c.(1006-1008)gatfs	p.D336fs	ITGA2B_ENST00000377068.3_Frame_Shift_Del_p.D21fs|ITGA2B_ENST00000353281.4_Frame_Shift_Del_p.D336fs	NM_000419.3	NP_000410.2	P08514	ITA2B_HUMAN	integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41)	336					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of leukocyte migration (GO:0002687)	blood microparticle (GO:0072562)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)|platelet alpha granule membrane (GO:0031092)	extracellular matrix binding (GO:0050840)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)			biliary_tract(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.191)	Abciximab(DB00054)|Tirofiban(DB00775)	ACCAGCAGATCATGCCTCCTG	0.597																																						ENST00000262407.5																			0				biliary_tract(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						c.(1006-1008)atfs		integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41)	Tirofiban(DB00775)						18	17	17					17																	42461065		2198	4295	6493	SO:0001589	frameshift_variant	3674				axon guidance|integrin-mediated signaling pathway|platelet activation|platelet degranulation	integrin complex|platelet alpha granule membrane	identical protein binding|receptor activity	g.chr17:42461065delC		CCDS32665.1	17q21.32	2014-09-17	2006-02-22			ENSG00000005961		"CD molecules", "Integrins"	6138	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 93"	607759	"integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41B)"	GP2B			Standard	NM_000419		Approved	CD41B, CD41, PPP1R93	uc002igt.1	P08514		ENST00000262407.5:c.1006delG	17.37:g.42461065delC	ENSP00000262407:p.Asp336fs					ITGA2B_ENST00000353281.4_Frame_Shift_Del_p.D336fs|ITGA2B_ENST00000377068.3_Frame_Shift_Del_p.D21fs	p.D336fs	NM_000419.3	NP_000410.2	P08514	ITA2B_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.191)	12	1037	-		Prostate(33;0.0181)	336					B2RCY8|O95366|Q14443|Q17R67	Frame_Shift_Del	DEL	ENST00000262407.5	37	c.1006delG	CCDS32665.1																																																																																				0.597	ITGA2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439823.1			2	4						2	4	---	---	---	---	-	42461065	C	-	42461065	7	5	297	1	0	1	0	1	0	0	0	0	7876	826	29	0	2189	0	ITGA2B	17	42461065	Frame_Shift_Del	DEL	C	TCGA-KC-A4BR-01A-32D-A257-08		42461065	38734145	10	14238											
SERPINB3	6317	broad.mit.edu	37	chr18	61328408	61328408	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttttctgaactgttggaacaGgtcgaacatgaacttggtgt	10	14	11	6	1	1	2	0	2	1	0	2	4	1	3	0	3	4	1	0	3	4	4	rs375182717		TCGA-KC-A4BR-01A-32D-A257-08	TCGA-KC-A4BR-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c9ec16d-4591-4e56-8326-9e7883d88483	fee0aa5b-cffd-48d4-bf3c-118855f4ecda	g.chr18:61328408G>T	ENST00000283752.5	-	2	186	c.43C>A	c.(43-45)Ctg>Atg	p.L15M	SERPINB11_ENST00000489748.1_RNA|SERPINB3_ENST00000332821.8_Missense_Mutation_p.L15M	NM_006919.2	NP_008850.1	P29508	SPB3_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 3	15					negative regulation of catalytic activity (GO:0043086)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of peptidase activity (GO:0010466)|negative regulation of proteolysis (GO:0045861)|regulation of proteolysis (GO:0030162)|response to virus (GO:0009615)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|vesicle (GO:0031982)	serine-type endopeptidase inhibitor activity (GO:0004867)|virus receptor activity (GO:0001618)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	36						TGTTGGAACAGGTCGAACATG	0.433																																						ENST00000283752.5																			0				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	36						c.(43-45)Ctg>Atg		serpin peptidase inhibitor, clade B (ovalbumin), member 3							329	289	302					18																	61328408		2203	4300	6503	SO:0001583	missense	6317				regulation of proteolysis	cytoplasm|extracellular region	protein binding|serine-type endopeptidase inhibitor activity	g.chr18:61328408G>T	U19568	CCDS11987.1	18q21.3	2014-02-18	2005-08-18		ENSG00000057149	ENSG00000057149		"Serine (or cysteine) peptidase inhibitors"	10569	protein-coding gene	gene with protein product		600517	"serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 3"	SCC, SCCA1		7724531, 24172014	Standard	NM_006919		Approved	T4-A, HsT1196	uc002lji.3	P29508	OTTHUMG00000060403	ENST00000283752.5:c.43C>A	18.37:g.61328408G>T	ENSP00000283752:p.Leu15Met					SERPINB3_ENST00000332821.8_Missense_Mutation_p.L15M|SERPINB11_ENST00000489748.1_RNA	p.L15M	NM_006919.2	NP_008850.1	P29508	SPB3_HUMAN			2	186	-			15					A6NDM2|B2RBT5|B3W5Y6|Q53H28|Q53YB5|Q86VF3|Q86W04|Q8IWL4|Q8IXI3|Q96J21|Q9BYF8	Missense_Mutation	SNP	ENST00000283752.5	37	c.43C>A	CCDS11987.1	.	.	.	.	.	.	.	.	.	.	G	9.857	1.195185	0.22037	.	.	ENSG00000057149	ENST00000283752;ENST00000332821	D;D	0.90385	-2.66;-2.66	3.13	0.163	0.14986	Serpin domain (3);	0.579212	0.13336	N	0.395565	D	0.91399	0.7286	M	0.75777	2.31	0.09310	N	1	B;P;B;P;P	0.51240	0.423;0.943;0.384;0.943;0.943	P;P;P;P;P	0.56960	0.722;0.81;0.587;0.722;0.81	T	0.82127	-0.0611	10	0.54805	T	0.06	.	2.702	0.05152	0.0956:0.1579:0.4254:0.3211	.	15;15;15;15;15	B3W5Y6;A8K847;P29508-2;P29508;Q5K684	.;.;.;SPB3_HUMAN;.	M	15	ENSP00000283752:L15M;ENSP00000329498:L15M	ENSP00000283752:L15M	L	-	1	2	SERPINB3	59479388	0.002000	0.14202	0.001000	0.08648	0.002000	0.02628	-0.201000	0.09464	0.017000	0.15025	-0.538000	0.04264	CTG		0.433	SERPINB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133791.1	NM_006919		8	153	1	0	3.09899e-07	1	3.82816e-07	8	153					T	61328408	G	T	61328408	3	4	297	1	0	0	0	0	1	0	0	0	14102	991	35	5	1157	5	SERPINB3	18	61328408	Missense_Mutation	SNP	G	TCGA-KC-A4BR-01A-32D-A257-08		61328408	16748840	11	14239											
TPRX1	284355	broad.mit.edu	37	chr19	48305603	48305603	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgggattgggcctgggatcGggcctgggtttgggcctgag	3	10	20	8	1	0	1	0	1	0	0	1	3	0	3	3	6	0	1	3	6	0	2	rs199739873		TCGA-KC-A4BR-01A-32D-A257-08	TCGA-KC-A4BR-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c9ec16d-4591-4e56-8326-9e7883d88483	fee0aa5b-cffd-48d4-bf3c-118855f4ecda	g.chr19:48305603G>A	ENST00000322175.3	-	2	820	c.665C>T	c.(664-666)cCg>cTg	p.P222L	TPRX1_ENST00000543508.1_Missense_Mutation_p.P212L|TPRX1_ENST00000535759.1_Missense_Mutation_p.P319L	NM_198479.2	NP_940881.2	Q8N7U7	TPRX1_HUMAN	tetra-peptide repeat homeobox 1	222	Gly-rich.					nucleus (GO:0005634)	DNA binding (GO:0003677)	p.P222L(1)		endometrium(5)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)|skin(1)	18		all_cancers(25;3.02e-09)|all_epithelial(76;7e-07)|all_lung(116;2.48e-06)|Lung NSC(112;5.15e-06)|Ovarian(192;0.0139)|all_neural(266;0.0146)|Breast(70;0.133)		OV - Ovarian serous cystadenocarcinoma(262;0.000241)|all cancers(93;0.00036)|Epithelial(262;0.0127)|GBM - Glioblastoma multiforme(486;0.048)		gcctgggatcgggcctgggtt	0.667																																					Esophageal Squamous(123;175 2281 3051 32395)	ENST00000535759.1																			1	Substitution - Missense(1)	p.P222L(1)	prostate(1)	endometrium(5)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)|skin(1)	18						c.(955-957)cCg>cTg		tetra-peptide repeat homeobox 1							12	10	10					19																	48305603		1907	3812	5719	SO:0001583	missense	284355					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr19:48305603G>A		CCDS33066.1	19q13.33	2011-07-08			ENSG00000178928	ENSG00000178928		"Homeoboxes / PRD class"	32174	protein-coding gene	gene with protein product		611166					Standard	XM_005258788		Approved	FLJ40321	uc002php.2	Q8N7U7		ENST00000322175.3:c.665C>T	19.37:g.48305603G>A	ENSP00000323455:p.Pro222Leu					TPRX1_ENST00000322175.3_Missense_Mutation_p.P222L|TPRX1_ENST00000543508.1_Missense_Mutation_p.P212L	p.P319L			Q8N7U7	TPRX1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000241)|all cancers(93;0.00036)|Epithelial(262;0.0127)|GBM - Glioblastoma multiforme(486;0.048)	4	955	-		all_cancers(25;3.02e-09)|all_epithelial(76;7e-07)|all_lung(116;2.48e-06)|Lung NSC(112;5.15e-06)|Ovarian(192;0.0139)|all_neural(266;0.0146)|Breast(70;0.133)	222			Gly-rich.		A5D8Y3|B2RPL5	Missense_Mutation	SNP	ENST00000322175.3	37	c.956C>T	CCDS33066.1	.	.	.	.	.	.	.	.	.	.	g	4.957	0.177797	0.09443	.	.	ENSG00000178928	ENST00000322175;ENST00000535759;ENST00000543508	D;D;T	0.93659	-2.02;-3.26;-0.19	0.401	-0.802	0.10889	.	.	.	.	.	D	0.83727	0.5317	N	0.14661	0.345	0.09310	N	1	B	0.10296	0.003	B	0.04013	0.001	T	0.70901	-0.4746	8	0.56958	D	0.05	.	.	.	.	.	222	Q8N7U7	TPRX1_HUMAN	L	222;319;212	ENSP00000323455:P222L;ENSP00000438832:P319L;ENSP00000438712:P212L	ENSP00000323455:P222L	P	-	2	0	TPRX1	52997415	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.050000	0.03510	-0.453000	0.07076	-0.462000	0.05337	CCG		0.667	TPRX1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000409868.1	NM_198479		2	1	0	0	0	1	0	2	1					A	48305603	G	A	48305603	3	1	297	1	0	0	0	0	1	0	0	0	16419	1116	39	2	574	2	TPRX1	19	48305603	Missense_Mutation	SNP	G	TCGA-KC-A4BR-01A-32D-A257-08		48305603	10823380	12	14240											
FAM113A	64773	broad.mit.edu	37	chr20	2820542	2820542	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggcggcgcggctcctcgctcGacagacagaagaccatgccg	8	4	14	15	6	0	3	0	0	0	3	3	4	1	3	3	3	1	2	3	3	1	0	rs373332762		TCGA-KC-A4BR-01A-32D-A257-08	TCGA-KC-A4BR-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c9ec16d-4591-4e56-8326-9e7883d88483	fee0aa5b-cffd-48d4-bf3c-118855f4ecda	g.chr20:2820542G>A	ENST00000360652.2	-	2	519	c.17C>T	c.(16-18)tCg>tTg	p.S6L	VPS16_ENST00000380445.3_5'Flank|VPS16_ENST00000380469.3_5'Flank|PCED1A_ENST00000356872.3_Missense_Mutation_p.S6L	NM_022760.4	NP_073597.2	Q9H1Q7	PED1A_HUMAN	PC-esterase domain containing 1A	6																	CTCCTCGCTCGACAGACAGAA	0.642																																						ENST00000360652.2																			0											c.(16-18)tCg>tTg		PC-esterase domain containing 1A							50	47	48					20																	2820542		2203	4300	6503	SO:0001583	missense	64773							g.chr20:2820542G>A	AK026029	CCDS13035.1, CCDS59442.1	20p13	2012-06-11	2012-06-11	2012-06-11	ENSG00000132635	ENSG00000132635			16212	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 81", "family with sequence similarity 113, member A"	C20orf81, FAM113A		20056006	Standard	NM_022760		Approved	bA12M19.1, FLJ22376	uc002wgz.2	Q9H1Q7	OTTHUMG00000031716	ENST00000360652.2:c.17C>T	20.37:g.2820542G>A	ENSP00000353868:p.Ser6Leu					PCED1A_ENST00000356872.3_Missense_Mutation_p.S6L	p.S6L	NM_022760.3	NP_073597.2					2	519	-								Q5JUA5|Q5JUA6|Q6PK19|Q86WF5|Q96CG7|Q9H1Q6|Q9H6D1	Missense_Mutation	SNP	ENST00000360652.2	37	c.17C>T	CCDS13035.1	.	.	.	.	.	.	.	.	.	.	G	13.04	2.119838	0.37436	.	.	ENSG00000132635	ENST00000356872;ENST00000360652;ENST00000380531;ENST00000448755;ENST00000439542	T;T;T;T	0.44482	0.92;0.93;0.93;0.95	3.83	2.73	0.32206	.	0.781358	0.10830	N	0.629451	T	0.21801	0.0525	N	0.08118	0	0.20764	N	0.999858	B;B	0.25743	0.133;0.031	B;B	0.14023	0.01;0.006	T	0.14952	-1.0454	10	0.52906	T	0.07	-0.827	7.3253	0.26551	0.0:0.0:0.2424:0.7576	.	6;6	Q9H1Q7-2;Q9H1Q7	.;F113A_HUMAN	L	6	ENSP00000349334:S6L;ENSP00000353868:S6L;ENSP00000388935:S6L;ENSP00000401711:S6L	ENSP00000349334:S6L	S	-	2	0	FAM113A	2768542	0.654000	0.27367	0.678000	0.29963	0.673000	0.39480	0.830000	0.27462	0.824000	0.34613	-0.262000	0.10625	TCG		0.642	PCED1A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077676.2	NM_022760		4	36	0	0	0	1	0	4	36					A	2820542	G	A	2820542	3	1	297	1	0	0	0	0	1	0	0	0	5401	1059	37	2	1375	2	FAM113A	20	2820542	Missense_Mutation	SNP	G	TCGA-KC-A4BR-01A-32D-A257-08		2820542	60204978	13	14241											
C1orf87	127795	broad.mit.edu	37	chr1	60456420	60456420	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cggaatctgcgcaaggcctgGtcgattttctgagggctcag	7	10	14	10	3	3	1	1	1	2	0	4	3	3	2	1	4	1	2	1	4	2	2			TCGA-KC-A4BV-01A-31D-A26M-08	TCGA-KC-A4BV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f61d1174-470f-4318-9bd9-defe72f8afd2	8329fc61-dda7-4b68-8988-2f6c1214cc2c	g.chr1:60456420G>C	ENST00000371201.3	-	12	1673	c.1566C>G	c.(1564-1566)gaC>gaG	p.D522E	C1orf87_ENST00000395552.1_Missense_Mutation_p.D156E|C1orf87_ENST00000486478.1_5'UTR|C1orf87_ENST00000450089.2_Missense_Mutation_p.D293E	NM_152377.2	NP_689590.1	Q8N0U7	CA087_HUMAN	chromosome 1 open reading frame 87	522							calcium ion binding (GO:0005509)			breast(2)|endometrium(2)|large_intestine(6)|lung(19)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33						GCAAGGCCTGGTCGATTTTCT	0.488																																					NSCLC(75;811 1386 4923 13371 51772)	ENST00000371201.3																			0				breast(2)|endometrium(2)|large_intestine(6)|lung(19)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33						c.(1564-1566)gaC>gaG		chromosome 1 open reading frame 87							240	246	244					1																	60456420		2203	4300	6503	SO:0001583	missense	127795						calcium ion binding	g.chr1:60456420G>C	AK124828	CCDS614.1	1p32.1	2014-04-03			ENSG00000162598	ENSG00000162598			28547	protein-coding gene	gene with protein product	"carcinoma-related EF-hand protein"					12477932	Standard	NM_152377		Approved	MGC34837, CREF	uc001czs.2	Q8N0U7	OTTHUMG00000008992	ENST00000371201.3:c.1566C>G	1.37:g.60456420G>C	ENSP00000360244:p.Asp522Glu					C1orf87_ENST00000395552.1_Missense_Mutation_p.D156E|C1orf87_ENST00000486478.1_5'UTR|C1orf87_ENST00000450089.2_Missense_Mutation_p.D293E	p.D522E	NM_152377.2	NP_689590.1	Q8N0U7	CA087_HUMAN			12	1673	-			522					Q6ZU07|Q8IVS0	Missense_Mutation	SNP	ENST00000371201.3	37	c.1566C>G	CCDS614.1	.	.	.	.	.	.	.	.	.	.	G	17.45	3.391912	0.62066	.	.	ENSG00000162598	ENST00000371201;ENST00000395552	T;T	0.33654	2.02;1.4	4.72	2.65	0.31530	EF-hand-like domain (1);	0.376195	0.22679	N	0.056973	T	0.21631	0.0521	L	0.45581	1.43	0.24962	N	0.991722	P	0.36144	0.539	B	0.30179	0.112	T	0.06972	-1.0797	10	0.22109	T	0.4	-4.5929	3.0716	0.06233	0.2335:0.2622:0.5043:0.0	.	522	Q8N0U7	CA087_HUMAN	E	522;156	ENSP00000360244:D522E;ENSP00000378921:D156E	ENSP00000360244:D522E	D	-	3	2	C1orf87	60229008	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.344000	0.52174	1.165000	0.42670	0.563000	0.77884	GAC		0.488	C1orf87-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024943.1	NM_152377		50	158	0	0	0	1	0	50	158					C	60456420	G	C	60456420	3	2	298	1	0	0	0	0	1	0	0	0	2064	1252	44	5	78	5	C1orf87	1	60456420	Missense_Mutation	SNP	G	TCGA-KC-A4BV-01A-31D-A26M-08		60456420	188794201	1	14242											
FNBP1L	54874	broad.mit.edu	37	chr1	94000419	94000419	+	Frame_Shift_Del	DEL	T	T	-																															gatggatgccaaaaccacagTaggaaaggccaagggcaaat																										TCGA-KC-A4BV-01A-31D-A26M-08	TCGA-KC-A4BV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f61d1174-470f-4318-9bd9-defe72f8afd2	8329fc61-dda7-4b68-8988-2f6c1214cc2c	g.chr1:94000419delT	ENST00000271234.7	+	9	1095	c.944delT	c.(943-945)gtafs	p.V315fs	FNBP1L_ENST00000260506.8_Frame_Shift_Del_p.V315fs|FNBP1L_ENST00000370256.4_Frame_Shift_Del_p.V315fs|FNBP1L_ENST00000370253.2_Frame_Shift_Del_p.V315fs|FNBP1L_ENST00000604705.1_Frame_Shift_Del_p.V315fs	NM_001164473.2	NP_001157945.1	Q5T0N5	FBP1L_HUMAN	formin binding protein 1-like	315	Interaction with CDC42.				autophagy (GO:0006914)|clathrin-mediated endocytosis (GO:0072583)|membrane budding (GO:0006900)|membrane invagination (GO:0010324)|membrane tubulation (GO:0097320)|positive regulation of filopodium assembly (GO:0051491)|vesicle organization (GO:0016050)|vesicle transport along actin filament (GO:0030050)	cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)			breast(2)|kidney(2)|large_intestine(4)|lung(2)|urinary_tract(1)	11		all_lung(203;0.00206)|Lung NSC(277;0.00902)|Melanoma(281;0.155)		all cancers(265;0.00666)|GBM - Glioblastoma multiforme(16;0.0378)|Epithelial(280;0.111)		AAAACCACAGTAGGAAAGGCC	0.388																																						ENST00000260506.8																			0				breast(2)|kidney(2)|large_intestine(4)|lung(2)|urinary_tract(1)	11						c.(943-945)gafs		formin binding protein 1-like							43	41	42					1																	94000419		1861	4105	5966	SO:0001589	frameshift_variant	54874				endocytosis	cell cortex|cytoplasmic membrane-bounded vesicle|cytoskeleton|plasma membrane	lipid binding	g.chr1:94000419delT		CCDS53343.1, CCDS53344.1, CCDS60192.1	1p22.1	2008-02-05	2004-11-16	2004-11-17	ENSG00000137942	ENSG00000137942			20851	protein-coding gene	gene with protein product		608848	"chromosome 1 open reading frame 39"	C1orf39		14654988	Standard	NM_017737		Approved	TOCA1, FLJ20275	uc010otk.2	Q5T0N5	OTTHUMG00000010863	ENST00000271234.7:c.944delT	1.37:g.94000419delT	ENSP00000271234:p.Val315fs					FNBP1L_ENST00000271234.7_Frame_Shift_Del_p.V315fs|FNBP1L_ENST00000604705.1_Frame_Shift_Del_p.V315fs|FNBP1L_ENST00000370256.4_Frame_Shift_Del_p.V315fs|FNBP1L_ENST00000370253.2_Frame_Shift_Del_p.V315fs	p.V315fs	NM_001024948.2|NM_017737.4	NP_001020119.1|NP_060207.2	Q5T0N5	FBP1L_HUMAN		all cancers(265;0.00666)|GBM - Glioblastoma multiforme(16;0.0378)|Epithelial(280;0.111)	9	1095	+		all_lung(203;0.00206)|Lung NSC(277;0.00902)|Melanoma(281;0.155)	315			Induction of membrane tubulation (By similarity).|Interaction with CDC42.		J3QSS4|Q5T0N6|Q6B097|Q6P653|Q6R4Q4|Q9NXG1	Frame_Shift_Del	DEL	ENST00000271234.7	37	c.944delT	CCDS53343.1																																																																																				0.388	FNBP1L-202	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		NM_017737		2	4						2	4	---	---	---	---	-	94000419	T	-	94000419	7	5	298	1	0	1	0	1	0	0	0	0	5966	1638	57	0	978	0	FNBP1L	1	94000419	Frame_Shift_Del	DEL	T	TCGA-KC-A4BV-01A-31D-A26M-08	33543999	94000419	155250202	2	14243											
AKNAD1	254268	broad.mit.edu	37	chr1	109377557	109377557	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gggctaggactcacgtctgcGgggccagctcacagagctcc	7	6	14	14	2	3	1	2	0	1	1	4	2	4	2	2	4	3	3	2	4	1	1	rs202065262		TCGA-KC-A4BV-01A-31D-A26M-08	TCGA-KC-A4BV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f61d1174-470f-4318-9bd9-defe72f8afd2	8329fc61-dda7-4b68-8988-2f6c1214cc2c	g.chr1:109377557G>A	ENST00000370001.3	-	8	1926	c.1658C>T	c.(1657-1659)cCg>cTg	p.P553L	AKNAD1_ENST00000357393.4_Missense_Mutation_p.P260L|AKNAD1_ENST00000369995.3_Missense_Mutation_p.P553L|AKNAD1_ENST00000369994.1_Missense_Mutation_p.P523L	NM_152763.4	NP_689976.2	Q5T1N1	AKND1_HUMAN	AKNA domain containing 1	553						cytoplasm (GO:0005737)		p.P553L(1)		breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|prostate(6)|skin(3)|stomach(2)	32						TCACGTCTGCGGGGCCAGCTC	0.657																																						ENST00000370001.3																			1	Substitution - Missense(1)	p.P553L(1)	large_intestine(1)	breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|prostate(6)|skin(3)|stomach(2)	32						c.(1657-1659)cCg>cTg		AKNA domain containing 1							38	39	38					1																	109377557		2202	4300	6502	SO:0001583	missense	254268							g.chr1:109377557G>A	AK095517	CCDS791.2	1p13.3	2009-10-29	2009-10-29	2009-10-29	ENSG00000162641	ENSG00000162641			28398	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 62"	C1orf62			Standard	NM_152763		Approved	MGC26989	uc001dwa.4	Q5T1N1	OTTHUMG00000011231	ENST00000370001.3:c.1658C>T	1.37:g.109377557G>A	ENSP00000359018:p.Pro553Leu					AKNAD1_ENST00000357393.4_Missense_Mutation_p.P260L|AKNAD1_ENST00000369994.1_Missense_Mutation_p.P523L|AKNAD1_ENST00000369995.3_Missense_Mutation_p.P553L	p.P553L	NM_152763.4	NP_689976.2	Q5T1N1	AKND1_HUMAN			8	1926	-			553					B9EK62|Q5T1N0|Q8N990|Q8NCN9	Missense_Mutation	SNP	ENST00000370001.3	37	c.1658C>T	CCDS791.2	.	.	.	.	.	.	.	.	.	.	G	5.622	0.299461	0.10622	.	.	ENSG00000162641	ENST00000370001;ENST00000357393;ENST00000369994;ENST00000369995	T;T;T;T	0.24908	3.23;2.42;1.83;3.2	2.08	-4.16	0.03869	.	.	.	.	.	T	0.04137	0.0115	L	0.40543	1.245	0.09310	N	1	B;B	0.18968	0.032;0.007	B;B	0.12156	0.007;0.003	T	0.37753	-0.9692	9	0.28530	T	0.3	3.7514	0.1588	0.00101	0.2676:0.1606:0.2132:0.3586	.	260;553	B4DET8;Q5T1N1	.;AKND1_HUMAN	L	553;260;523;553	ENSP00000359018:P553L;ENSP00000349968:P260L;ENSP00000359011:P523L;ENSP00000359012:P553L	ENSP00000349968:P260L	P	-	2	0	AKNAD1	109179080	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.835000	0.01692	-1.667000	0.01473	-1.186000	0.01703	CCG		0.657	AKNAD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030923.2	NM_152763		8	31	0	0	0	1	0	8	31					A	109377557	G	A	109377557	3	1	298	1	0	0	0	0	1	0	0	0	464	1116	39	2	888	2	AKNAD1	1	109377557	Missense_Mutation	SNP	G	TCGA-KC-A4BV-01A-31D-A26M-08	15377138	109377557	139873064	3	14244											
UBQLN4	56893	broad.mit.edu	37	chr1	156011291	156011292	+	Frame_Shift_Ins	INS	-	-	A																															gtacctgtgagtttccacttINSccagccaaaagctggatcat																										TCGA-KC-A4BV-01A-31D-A26M-08	TCGA-KC-A4BV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f61d1174-470f-4318-9bd9-defe72f8afd2	8329fc61-dda7-4b68-8988-2f6c1214cc2c	g.chr1:156011291_156011292insA	ENST00000368309.3	-	10	1729_1730	c.1637_1638insT	c.(1636-1638)ggafs	p.G546fs		NM_020131.3	NP_064516.2	Q9NRR5	UBQL4_HUMAN	ubiquilin 4	546					regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032434)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	identical protein binding (GO:0042802)|polyubiquitin binding (GO:0031593)			NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(1)|lung(6)|pancreas(1)|skin(2)	16	Hepatocellular(266;0.133)|all_neural(408;0.195)					AGTTTCCACTTCCAGCCAAAAG	0.569																																						ENST00000368309.3																			0				NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(1)|lung(6)|pancreas(1)|skin(2)	16						c.(1636-1638)gagfs		ubiquilin 4																																				SO:0001589	frameshift_variant	56893					cytosol|endoplasmic reticulum membrane|nucleus	identical protein binding	g.chr1:156011291_156011292insA	BC018403	CCDS1127.1	1q21	2013-02-12	2004-11-05	2004-11-06	ENSG00000160803	ENSG00000160803		"Ubiquilin family"	1237	protein-coding gene	gene with protein product	"ataxin-1 ubiquitin-like interacting protein"	605440	"chromosome 1 open reading frame 6"	C1orf6		10575211, 11001934	Standard	NM_020131		Approved	A1U, UBIN	uc001fna.3	Q9NRR5	OTTHUMG00000017461	ENST00000368309.3:c.1637_1638insT	1.37:g.156011291_156011292insA	ENSP00000357292:p.Gly546fs					UBQLN4_ENST00000368307.1_Frame_Shift_Ins_p.*V198fs	p.E546fs	NM_020131.3	NP_064516.2	Q9NRR5	UBQL4_HUMAN			10	1729_1730	-	Hepatocellular(266;0.133)|all_neural(408;0.195)		546					A6ND44|B2RAY7|Q5VYA0|Q5VYA1|Q9BR98|Q9UHX4	Frame_Shift_Ins	INS	ENST00000368309.3	37	c.1637_1638insT	CCDS1127.1																																																																																				0.569	UBQLN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046193.1	NM_020131		12	29						12	29	---	---	---	---	A	156011292	-	A	156011291	7	5	298	1	0	1	1	0	0	0	0	0	16896	1770	62	0	175	0	UBQLN4	1	156011291	Frame_Shift_Ins	INS	-	TCGA-KC-A4BV-01A-31D-A26M-08	46633734	156011291	93239330	4	14245											
KIAA1614	57710	broad.mit.edu	37	chr1	180885841	180885841	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctgaccatgacagaggtcCgctgctggggcccagctctt	6	9	12	14	1	1	3	0	2	1	1	3	3	3	3	4	3	2	3	4	3	0	1	rs199998538	byFrequency	TCGA-KC-A4BV-01A-31D-A26M-08	TCGA-KC-A4BV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f61d1174-470f-4318-9bd9-defe72f8afd2	8329fc61-dda7-4b68-8988-2f6c1214cc2c	g.chr1:180885841C>T	ENST00000367588.4	+	2	657	c.602C>T	c.(601-603)cCg>cTg	p.P201L		NM_020950.1	NP_066001.1	Q5VZ46	K1614_HUMAN	KIAA1614	201										NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	33						GACAGAGGTCCGCTGCTGGGG	0.612													C|||	2	0.000399361	0	0.0014	5008	,	,		17853	0		0	False		,,,				2504	0.001					ENST00000367588.4																			0				NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	33						c.(601-603)cCg>cTg		KIAA1614		C	LEU/PRO	0,3808		0,0,1904	79	84	83		602	-2.7	0	1		83	1,8205		0,1,4102	yes	missense	KIAA1614	NM_020950.1	98	0,1,6006	TT,TC,CC		0.0122,0.0,0.0083	benign	201/1191	180885841	1,12013	1904	4103	6007	SO:0001583	missense	57710							g.chr1:180885841C>T	AB046834	CCDS41442.1	1q25.3	2008-02-05			ENSG00000135835	ENSG00000135835			29327	protein-coding gene	gene with protein product							Standard	NM_020950		Approved		uc001gok.2	Q5VZ46	OTTHUMG00000035183	ENST00000367588.4:c.602C>T	1.37:g.180885841C>T	ENSP00000356560:p.Pro201Leu						p.P201L	NM_020950.1	NP_066001.1	Q5VZ46	K1614_HUMAN			2	657	+			201					Q5VZ45|Q9HCF8	Missense_Mutation	SNP	ENST00000367588.4	37	c.602C>T	CCDS41442.1	.	.	.	.	.	.	.	.	.	.	C	0.324	-0.960035	0.02267	0.0	1.22E-4	ENSG00000135835	ENST00000367588	T	0.04809	3.55	4.57	-2.71	0.05986	.	1.427210	0.05052	N	0.478343	T	0.02304	0.0071	N	0.08118	0	0.23243	N	0.998059	B	0.06786	0.001	B	0.04013	0.001	T	0.46247	-0.9205	9	0.13470	T	0.59	1.9144	4.5024	0.11870	0.2899:0.4285:0.0:0.2816	.	201	Q5VZ46	K1614_HUMAN	L	201	ENSP00000356560:P201L	ENSP00000356560:P201L	P	+	2	0	KIAA1614	179152464	0.000000	0.05858	0.000000	0.03702	0.048000	0.14542	0.046000	0.14035	-0.737000	0.04824	-0.253000	0.11424	CCG		0.612	KIAA1614-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000085151.1	XM_046531		6	105	0	0	0	1	0	6	105					T	180885841	C	T	180885841	3	4	298	1	0	0	0	0	1	0	0	0	8248	652	23	2	608	2	KIAA1614	1	180885841	Missense_Mutation	SNP	C	TCGA-KC-A4BV-01A-31D-A26M-08	24874550	180885841	68364780	5	14246											
TATDN3	128387	broad.mit.edu	37	chr1	212985626	212985626	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aacaattgcctttaacttctAtatgcttagaaacagattca	15	14	4	8	0	2	2	1	0	1	2	2	2	2	2	1	0	5	1	1	0	7	8			TCGA-KC-A4BV-01A-31D-A26M-08	TCGA-KC-A4BV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f61d1174-470f-4318-9bd9-defe72f8afd2	8329fc61-dda7-4b68-8988-2f6c1214cc2c	g.chr1:212985626A>G	ENST00000366974.4	+	9	731	c.637A>G	c.(637-639)Ata>Gta	p.I213V	TATDN3_ENST00000531963.1_Missense_Mutation_p.I220V|TATDN3_ENST00000366973.4_Missense_Mutation_p.I212V|TATDN3_ENST00000526641.1_Missense_Mutation_p.I192V|TATDN3_ENST00000532324.1_Missense_Mutation_p.I220V|TATDN3_ENST00000525569.1_3'UTR|TATDN3_ENST00000526997.1_Missense_Mutation_p.Y174C	NM_001042552.2|NM_001042553.2|NM_001146169.1|NM_001146171.1	NP_001036017.1|NP_001036018.1|NP_001139641.1|NP_001139643.1	Q17R31	TATD3_HUMAN	TatD DNase domain containing 3	213					DNA catabolic process (GO:0006308)	intracellular organelle (GO:0043229)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	deoxyribonuclease activity (GO:0004536)|endodeoxyribonuclease activity, producing 5'-phosphomonoesters (GO:0016888)|metal ion binding (GO:0046872)			endometrium(1)|large_intestine(2)|lung(6)	9				OV - Ovarian serous cystadenocarcinoma(81;0.00699)|all cancers(67;0.0118)|GBM - Glioblastoma multiforme(131;0.0801)|Epithelial(68;0.104)		TTTAACTTCTATATGCTTAGA	0.294																																						ENST00000366974.4																			0				endometrium(1)|large_intestine(2)|lung(6)	9						c.(637-639)Ata>Gta		TatD DNase domain containing 3							52	54	53					1																	212985626		2203	4300	6503	SO:0001583	missense	128387					nucleus	endodeoxyribonuclease activity, producing 5'-phosphomonoesters|metal ion binding	g.chr1:212985626A>G	AL832248	CCDS31019.1, CCDS41465.1, CCDS53475.1, CCDS53476.1, CCDS53477.1	1q32.3	2008-02-05			ENSG00000203705	ENSG00000203705			27010	protein-coding gene	gene with protein product							Standard	NM_001042552		Approved		uc001hjo.2	Q17R31	OTTHUMG00000036805	ENST00000366974.4:c.637A>G	1.37:g.212985626A>G	ENSP00000355941:p.Ile213Val					TATDN3_ENST00000526641.1_Missense_Mutation_p.I192V|TATDN3_ENST00000531963.1_Missense_Mutation_p.I220V|TATDN3_ENST00000526997.1_Missense_Mutation_p.Y174C|TATDN3_ENST00000532324.1_Missense_Mutation_p.I220V|TATDN3_ENST00000366973.4_Missense_Mutation_p.I212V|TATDN3_ENST00000525569.1_3'UTR	p.I213V	NM_001042552.2|NM_001042553.2|NM_001146169.1|NM_001146171.1	NP_001036017.1|NP_001036018.1|NP_001139641.1|NP_001139643.1	Q17R31	TATD3_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.00699)|all cancers(67;0.0118)|GBM - Glioblastoma multiforme(131;0.0801)|Epithelial(68;0.104)	9	731	+			213					A6NGS3|B7Z1C1|B7Z978|B7ZLQ6|E9PJE5|E9PNH3|G3V151|Q4G0L1	Missense_Mutation	SNP	ENST00000366974.4	37	c.637A>G	CCDS31019.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	12.33|12.33	1.904788|1.904788	0.33628|0.33628	.|.	.|.	ENSG00000203705|ENSG00000203705	ENST00000532324;ENST00000366974;ENST00000526641;ENST00000531963;ENST00000366973;ENST00000527693|ENST00000526997	.|.	.|.	.|.	5.46|5.46	4.32|4.32	0.51571|0.51571	.|.	0.135624|.	0.64402|.	D|.	0.000003|.	T|T	0.55033|0.55033	0.1895|0.1895	L|L	0.58810|0.58810	1.83|1.83	0.30719|0.30719	N|N	0.748427|0.748427	B;B;B;B;B;B|.	0.24426|.	0.015;0.005;0.001;0.103;0.012;0.008|.	B;B;B;B;B;B|.	0.28709|.	0.075;0.093;0.022;0.083;0.045;0.052|.	T|T	0.59627|0.59627	-0.7419|-0.7419	9|6	0.59425|0.59425	D|D	0.04|0.04	-2.9829|-2.9829	12.4831|12.4831	0.55856|0.55856	0.8604:0.1396:0.0:0.0|0.8604:0.1396:0.0:0.0	.|.	160;192;220;220;212;213|.	B7Z2Z9;E9PNH3;G3V151;E9PJE5;Q17R31-2;Q17R31|.	.;.;.;.;.;TATD3_HUMAN|.	V|C	220;213;192;220;212;24|174	.|.	ENSP00000355940:I212V|ENSP00000436364:Y174C	I|Y	+|+	1|2	0|0	TATDN3|TATDN3	211052249|211052249	0.996000|0.996000	0.38824|0.38824	0.613000|0.613000	0.29037|0.29037	0.484000|0.484000	0.33280|0.33280	3.000000|3.000000	0.49481|0.49481	0.881000|0.881000	0.35993|0.35993	0.528000|0.528000	0.53228|0.53228	ATA|TAT		0.294	TATDN3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000089396.2	XM_375838		11	21	0	0	0	1	0	11	21					G	212985626	A	G	212985626	3	3	298	1	0	0	0	0	1	0	0	0	15590	449	16	4	692	4	TATDN3	1	212985626	Missense_Mutation	SNP	A	TCGA-KC-A4BV-01A-31D-A26M-08	32099785	212985626	36264995	6	14247											
ETAA1	54465	broad.mit.edu	37	chr2	67632038	67632038	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atttgactatgtattctaagAtctcaaactgtcagataaat	15	15	5	6	0	3	3	2	1	2	2	4	3	3	3	0	0	1	1	0	0	6	6			TCGA-KC-A4BV-01A-31D-A26M-08	TCGA-KC-A4BV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f61d1174-470f-4318-9bd9-defe72f8afd2	8329fc61-dda7-4b68-8988-2f6c1214cc2c	g.chr2:67632038A>C	ENST00000272342.5	+	5	2354	c.2224A>C	c.(2224-2226)Atc>Ctc	p.I742L	ETAA1_ENST00000462772.1_Intron	NM_019002.3	NP_061875.2	Q9NY74	ETAA1_HUMAN	Ewing tumor-associated antigen 1	742						cytoplasm (GO:0005737)				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(3)|prostate(1)|stomach(3)|urinary_tract(1)	33						GTATTCTAAGATCTCAAACTG	0.348																																						ENST00000272342.5																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(3)|prostate(1)|stomach(3)|urinary_tract(1)	33						c.(2224-2226)Atc>Ctc		Ewing tumor-associated antigen 1							58	61	60					2																	67632038		2203	4298	6501	SO:0001583	missense	54465					cytoplasm|nucleus		g.chr2:67632038A>C	AJ242682	CCDS1882.1	2p14	2014-02-12	2007-10-04		ENSG00000143971	ENSG00000143971			24648	protein-coding gene	gene with protein product		613196	"Ewing's tumor-associated antigen 1"			16003559	Standard	XM_005264374		Approved	ETAA16	uc002sdz.1	Q9NY74	OTTHUMG00000129545	ENST00000272342.5:c.2224A>C	2.37:g.67632038A>C	ENSP00000272342:p.Ile742Leu					ETAA1_ENST00000462772.1_Intron	p.I742L	NM_019002.3	NP_061875.2	Q9NY74	ETAA1_HUMAN			5	2354	+			742					Q05BT7|Q53SC4	Missense_Mutation	SNP	ENST00000272342.5	37	c.2224A>C	CCDS1882.1	.	.	.	.	.	.	.	.	.	.	A	6.142	0.394497	0.11638	.	.	ENSG00000143971	ENST00000272342	T	0.16457	2.34	5.83	4.56	0.56223	.	0.636432	0.16331	N	0.219101	T	0.11324	0.0276	N	0.22421	0.69	0.09310	N	1	B	0.18741	0.03	B	0.15870	0.014	T	0.16867	-1.0388	10	0.26408	T	0.33	-21.9319	9.7986	0.40751	0.8024:0.0:0.0:0.1976	.	742	Q9NY74	ETAA1_HUMAN	L	742	ENSP00000272342:I742L	ENSP00000272342:I742L	I	+	1	0	ETAA1	67485542	0.272000	0.24172	0.127000	0.21898	0.041000	0.13682	2.549000	0.45803	2.225000	0.72522	0.533000	0.62120	ATC		0.348	ETAA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251735.1	NM_019002		4	32	0	0	0	1	0	4	32					C	67632038	A	C	67632038	3	2	298	1	0	0	0	0	1	0	0	0	5267	333	12	5	2242	5	ETAA1	2	67632038	Missense_Mutation	SNP	A	TCGA-KC-A4BV-01A-31D-A26M-08		67632038	175567335	7	14248											
SLC4A3	6508	broad.mit.edu	37	chr2	220498620	220498621	+	Frame_Shift_Del	DEL	GG	GG	-																															agaagcccctccacatgcctGggggagatggtcaccggggg																										TCGA-KC-A4BV-01A-31D-A26M-08	TCGA-KC-A4BV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f61d1174-470f-4318-9bd9-defe72f8afd2	8329fc61-dda7-4b68-8988-2f6c1214cc2c	g.chr2:220498620_220498621delGG	ENST00000358055.3	+	11	1992_1993	c.1480_1481delGG	c.(1480-1482)gggfs	p.G495fs	SLC4A3_ENST00000373760.2_Frame_Shift_Del_p.G495fs|SLC4A3_ENST00000373762.3_Frame_Shift_Del_p.G522fs|SLC4A3_ENST00000273063.6_Frame_Shift_Del_p.G522fs|SLC4A3_ENST00000317151.3_Frame_Shift_Del_p.G495fs			P48751	B3A3_HUMAN	solute carrier family 4 (anion exchanger), member 3	495					bicarbonate transport (GO:0015701)|ion transport (GO:0006811)|regulation of intracellular pH (GO:0051453)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	51		Renal(207;0.0183)		Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CCACATGCCTGGGGGAGATGGT	0.668																																						ENST00000358055.3																			0				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	51						c.(1480-1482)gfs		solute carrier family 4 (anion exchanger), member 3																																				SO:0001589	frameshift_variant	6508				bicarbonate transport	integral to plasma membrane|membrane fraction	inorganic anion exchanger activity	g.chr2:220498620_220498621delGG		CCDS2445.1, CCDS2446.1	2q35	2013-07-19	2013-07-19		ENSG00000114923	ENSG00000114923		"Solute carriers"	11029	protein-coding gene	gene with protein product	"Anion exchanger 3, neuronal"	106195	"solute carrier family 4, anion exchanger, member 3"			8001971	Standard	NM_005070		Approved	AE3, SLC2C	uc002vmo.4	P48751	OTTHUMG00000059238	ENST00000358055.3:c.1480_1481delGG	2.37:g.220498622_220498623delGG	ENSP00000350756:p.Gly495fs					SLC4A3_ENST00000273063.6_Frame_Shift_Del_p.G522fs|SLC4A3_ENST00000373762.3_Frame_Shift_Del_p.G522fs|SLC4A3_ENST00000317151.3_Frame_Shift_Del_p.G495fs|SLC4A3_ENST00000373760.2_Frame_Shift_Del_p.G495fs	p.G495fs			P48751	B3A3_HUMAN		Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	11	1992_1993	+		Renal(207;0.0183)	495					A6H8L2|A8K1Q9|B7ZVX6|B9EGD1|Q6YIQ9	Frame_Shift_Del	DEL	ENST00000358055.3	37	c.1480_1481delGG	CCDS2445.1																																																																																				0.668	SLC4A3-009	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316472.1	NM_005070		2	4						2	4	---	---	---	---	-	220498621	GG	-	220498620	7	5	298	1	0	1	0	1	0	0	0	0	14655	1348	47	0	1599	0	SLC4A3	2	220498620	Frame_Shift_Del	DEL	GG	TCGA-KC-A4BV-01A-31D-A26M-08	152866582	220498620	22700753	8	14249											
SCN5A	6331	broad.mit.edu	37	chr3	38647629	38647629	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tcatgtagatcttccctgcgGacctgagggtctgggggagc	6	10	15	10	1	3	2	1	1	2	1	4	4	4	4	2	4	2	1	2	4	1	2			TCGA-KC-A4BV-01A-31D-A26M-08	TCGA-KC-A4BV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f61d1174-470f-4318-9bd9-defe72f8afd2	8329fc61-dda7-4b68-8988-2f6c1214cc2c	g.chr3:38647629G>T	ENST00000333535.4	-	10	1300	c.1151C>A	c.(1150-1152)tCc>tAc	p.S384Y	SCN5A_ENST00000425664.1_Missense_Mutation_p.S384Y|SCN5A_ENST00000414099.2_Missense_Mutation_p.S384Y|SCN5A_ENST00000450102.2_Missense_Mutation_p.S384Y|SCN5A_ENST00000455624.2_Missense_Mutation_p.S384Y|SCN5A_ENST00000451551.2_Missense_Mutation_p.S384Y|SCN5A_ENST00000423572.2_Missense_Mutation_p.S384Y|SCN5A_ENST00000413689.1_Missense_Mutation_p.S384Y|SCN5A_ENST00000443581.1_Missense_Mutation_p.S384Y|SCN5A_ENST00000449557.2_Missense_Mutation_p.S384Y			Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	384					AV node cell to bundle of His cell communication (GO:0086067)|brainstem development (GO:0003360)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cardiac muscle cell action potential involved in contraction (GO:0086002)|cardiac muscle contraction (GO:0060048)|cardiac ventricle development (GO:0003231)|cellular response to calcium ion (GO:0071277)|cerebellum development (GO:0021549)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane depolarization during SA node cell action potential (GO:0086046)|neuronal action potential (GO:0019228)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of action potential (GO:0045760)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of sodium ion transport (GO:0010765)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of sodium ion transmembrane transport (GO:1902305)|regulation of ventricular cardiac muscle cell membrane depolarization (GO:0060373)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|telencephalon development (GO:0021537)|ventricular cardiac muscle cell action potential (GO:0086005)	caveola (GO:0005901)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	ankyrin binding (GO:0030506)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|fibroblast growth factor binding (GO:0017134)|ion channel binding (GO:0044325)|nitric-oxide synthase binding (GO:0050998)|protein kinase binding (GO:0019901)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)|voltage-gated sodium channel activity (GO:0005248)|voltage-gated sodium channel activity involved in cardiac muscle cell action potential (GO:0086006)			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Ajmaline(DB01426)|Aprindine(DB01429)|Benzonatate(DB00868)|Carbamazepine(DB00564)|Cinchocaine(DB00527)|Cocaine(DB00907)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lidocaine(DB00281)|Mexiletine(DB00379)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine barbiturate(DB01346)|Quinidine(DB00908)|Ranolazine(DB00243)|Riluzole(DB00740)|Tocainide(DB01056)|Valproic Acid(DB00313)|Verapamil(DB00661)|Zonisamide(DB00909)	CTTCCCTGCGGACCTGAGGGT	0.572																																						ENST00000413689.1																			0				NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107						c.(1150-1152)tCc>tAc		sodium channel, voltage-gated, type V, alpha subunit	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)						46	46	46					3																	38647629		1950	4144	6094	SO:0001583	missense	6331				blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity	g.chr3:38647629G>T	AJ310893	CCDS46796.1, CCDS46797.1, CCDS46798.1, CCDS46799.1, CCDS54569.1, CCDS54570.1	3p21	2014-09-17	2007-01-23		ENSG00000183873	ENSG00000183873		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10593	protein-coding gene	gene with protein product	"long QT syndrome 3"	600163	"sodium channel, voltage-gated, type V, alpha (long QT syndrome 3)"	CMD1E		7842012, 15466643, 16382098	Standard	NM_198056		Approved	Nav1.5, LQT3, HB1, HBBD, PFHB1, IVF, HB2, HH1, SSS1, CDCD2, CMPD2, ICCD	uc021wvl.1	Q14524	OTTHUMG00000156166	ENST00000333535.4:c.1151C>A	3.37:g.38647629G>T	ENSP00000328968:p.Ser384Tyr					SCN5A_ENST00000423572.2_Missense_Mutation_p.S384Y|SCN5A_ENST00000414099.2_Missense_Mutation_p.S384Y|SCN5A_ENST00000455624.2_Missense_Mutation_p.S384Y|SCN5A_ENST00000451551.2_Missense_Mutation_p.S384Y|SCN5A_ENST00000333535.4_Missense_Mutation_p.S384Y|SCN5A_ENST00000450102.2_Missense_Mutation_p.S384Y|SCN5A_ENST00000449557.2_Missense_Mutation_p.S384Y|SCN5A_ENST00000443581.1_Missense_Mutation_p.S384Y|SCN5A_ENST00000425664.1_Missense_Mutation_p.S384Y	p.S384Y	NM_001099404.1|NM_001160160.1	NP_001092874.1|NP_001153632.1	Q14524	SCN5A_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	10	1344	-	Medulloblastoma(35;0.163)		384					A5H1P8|A6N922|A6N923|B2RTU0|E7ET19|E9PEF3|E9PEK2|E9PFW7|Q59H93|Q75RX9|Q75RY0|Q86UR3|Q8IZC9|Q96J69	Missense_Mutation	SNP	ENST00000333535.4	37	c.1151C>A	CCDS46796.1	.	.	.	.	.	.	.	.	.	.	G	24.5	4.534077	0.85812	.	.	ENSG00000183873	ENST00000414099;ENST00000423572;ENST00000413689;ENST00000451551;ENST00000443581;ENST00000425664;ENST00000333535;ENST00000455624;ENST00000450102;ENST00000449557	D;D;D;D;D;D;D;D;D;D	0.97404	-4.37;-4.37;-4.37;-4.37;-4.37;-4.37;-4.37;-4.37;-4.37;-4.37	5.43	5.43	0.79202	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.98720	0.9570	M	0.88570	2.965	0.58432	D	0.999991	D;D;D;D;D;D	0.76494	0.997;0.999;0.997;0.997;0.999;0.996	D;D;D;D;D;D	0.87578	0.964;0.998;0.964;0.964;0.958;0.939	D	0.99429	1.0935	10	0.87932	D	0	.	19.4202	0.94719	0.0:0.0:1.0:0.0	.	384;384;384;384;384;384	E9PEF3;E9PHB6;E9PG18;Q14524;Q14524-2;E9PEK2	.;.;.;SCN5A_HUMAN;.;.	Y	384	ENSP00000398962:S384Y;ENSP00000398266:S384Y;ENSP00000410257:S384Y;ENSP00000388797:S384Y;ENSP00000397915:S384Y;ENSP00000416634:S384Y;ENSP00000328968:S384Y;ENSP00000399524:S384Y;ENSP00000403355:S384Y;ENSP00000413996:S384Y	ENSP00000328968:S384Y	S	-	2	0	SCN5A	38622633	1.000000	0.71417	0.976000	0.42696	0.876000	0.50452	7.741000	0.84997	2.825000	0.97269	0.655000	0.94253	TCC		0.572	SCN5A-014	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000377958.1	NM_198056		7	33	1	0	1.12685e-05	1	1.19878e-05	7	33					T	38647629	G	T	38647629	3	4	298	1	0	0	0	0	1	0	0	0	13922	1174	41	5	4975	5	SCN5A	3	38647629	Missense_Mutation	SNP	G	TCGA-KC-A4BV-01A-31D-A26M-08		38647629	159374801	9	14250											
STAG1	10274	broad.mit.edu	37	chr3	136221497	136221497	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtttctgaagtagtaactcCaacctttcattggctctctt	8	16	6	11	1	3	1	1	1	2	0	5	1	4	1	2	1	2	4	2	1	4	6			TCGA-KC-A4BV-01A-31D-A26M-08	TCGA-KC-A4BV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f61d1174-470f-4318-9bd9-defe72f8afd2	8329fc61-dda7-4b68-8988-2f6c1214cc2c	g.chr3:136221497C>G	ENST00000383202.2	-	8	1057	c.801G>C	c.(799-801)ttG>ttC	p.L267F	STAG1_ENST00000236698.5_Missense_Mutation_p.L267F|STAG1_ENST00000434713.2_Missense_Mutation_p.L41F	NM_005862.2	NP_005853.2	Q8WVM7	STAG1_HUMAN	stromal antigen 1	267					chromosome segregation (GO:0007059)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	cell junction (GO:0030054)|chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						GTAGTAACTCCAACCTTTCAT	0.348																																						ENST00000383202.2																			0				NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						c.(799-801)ttG>ttC		stromal antigen 1							180	172	175					3																	136221497		2203	4300	6503	SO:0001583	missense	10274				cell division|chromosome segregation|mitotic metaphase/anaphase transition|mitotic prometaphase	cell junction|chromatin|chromosome, centromeric region|nucleoplasm	protein binding	g.chr3:136221497C>G	Z75330	CCDS3090.1	3q22.2-q22.3	2011-08-12			ENSG00000118007	ENSG00000118007			11354	protein-coding gene	gene with protein product		604358				9305759	Standard	XM_006713471		Approved	SA-1, SCC3A	uc003era.1	Q8WVM7	OTTHUMG00000159798	ENST00000383202.2:c.801G>C	3.37:g.136221497C>G	ENSP00000372689:p.Leu267Phe					STAG1_ENST00000434713.2_Missense_Mutation_p.L41F|STAG1_ENST00000236698.5_Missense_Mutation_p.L267F	p.L267F	NM_005862.2	NP_005853.2	Q8WVM7	STAG1_HUMAN			8	1057	-			267					O00539|Q6P275	Missense_Mutation	SNP	ENST00000383202.2	37	c.801G>C	CCDS3090.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.249937	0.80024	.	.	ENSG00000118007	ENST00000383202;ENST00000236698;ENST00000434713	T;T;T	0.48522	0.81;0.81;0.81	5.67	3.78	0.43462	STAG (1);Armadillo-type fold (1);	0.072130	0.56097	D	0.000024	T	0.72317	0.3445	M	0.91818	3.245	0.80722	D	1	D;D;D	0.89917	0.998;1.0;0.998	D;D;D	0.97110	0.985;1.0;0.991	T	0.77284	-0.2645	10	0.59425	D	0.04	.	11.2316	0.48916	0.0:0.847:0.0:0.153	.	284;267;267	Q4LE48;Q6P275;Q8WVM7	.;.;STAG1_HUMAN	F	267;267;41	ENSP00000372689:L267F;ENSP00000236698:L267F;ENSP00000404396:L41F	ENSP00000236698:L267F	L	-	3	2	STAG1	137704187	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	0.928000	0.28831	1.301000	0.44836	0.491000	0.48974	TTG		0.348	STAG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357366.1	NM_005862		9	49	0	0	0	1	0	9	49					G	136221497	C	G	136221497	3	3	298	1	0	0	0	0	1	0	0	0	15241	593	21	5	3083	5	STAG1	3	136221497	Missense_Mutation	SNP	C	TCGA-KC-A4BV-01A-31D-A26M-08	97573868	136221497	61800933	10	14251											
GPR98	84059	broad.mit.edu	37	chr5	90052835	90052835	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctgcctatgaggtgcctccaCccttgaacgttcttcaagtt	7	13	8	13	1	2	2	1	2	1	0	3	2	3	2	4	1	3	2	4	1	3	5			TCGA-KC-A4BV-01A-31D-A26M-08	TCGA-KC-A4BV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f61d1174-470f-4318-9bd9-defe72f8afd2	8329fc61-dda7-4b68-8988-2f6c1214cc2c	g.chr5:90052835C>T	ENST00000405460.2	+	57	11893	c.11797C>T	c.(11797-11799)Ccc>Tcc	p.P3933S		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	3933	Calx-beta 26. {ECO:0000255}.				detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		GGTGCCTCCACCCTTGAACGT	0.443																																						ENST00000405460.2																			0				NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269						c.(11797-11799)Ccc>Tcc		G protein-coupled receptor 98							101	98	99					5																	90052835		1854	4091	5945	SO:0001583	missense	84059				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr5:90052835C>T	AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"-", "GPCR / Class B : Orphans"	17416	protein-coding gene	gene with protein product		602851	"monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.11797C>T	5.37:g.90052835C>T	ENSP00000384582:p.Pro3933Ser						p.P3933S	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)	57	11893	+		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)	3933					O75171|Q8TF58|Q9H0X5|Q9UL61	Missense_Mutation	SNP	ENST00000405460.2	37	c.11797C>T	CCDS47246.1	.	.	.	.	.	.	.	.	.	.	C	16.48	3.134431	0.56828	.	.	ENSG00000164199	ENST00000405460;ENST00000296619	T	0.25912	1.77	5.3	5.3	0.74995	Na-Ca exchanger/integrin-beta4 (1);	0.000000	0.85682	D	0.000000	T	0.38161	0.1030	N	0.25245	0.725	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.993	T	0.08066	-1.0740	10	0.24483	T	0.36	.	19.3122	0.94192	0.0:1.0:0.0:0.0	.	3933;3933	E7ETI5;Q8WXG9	.;GPR98_HUMAN	S	3933	ENSP00000384582:P3933S	ENSP00000296619:P3933S	P	+	1	0	GPR98	90088591	1.000000	0.71417	0.842000	0.33263	0.157000	0.22087	6.878000	0.75567	2.636000	0.89361	0.467000	0.42956	CCC		0.443	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2	NM_032119		6	35	0	0	0	1	0	6	35					T	90052835	C	T	90052835	3	4	298	1	0	0	0	0	1	0	0	0	6721	507	18	3	12023	3	GPR98	5	90052835	Missense_Mutation	SNP	C	TCGA-KC-A4BV-01A-31D-A26M-08		90052835	90862425	11	14252											
PCDHB1	29930	broad.mit.edu	37	chr5	140432441	140432441	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctatatcttgactgttcgAgaaaacaacagtcctgcggt	11	12	8	10	2	1	2	0	1	1	1	4	3	3	2	2	1	3	1	2	1	5	4			TCGA-KC-A4BV-01A-31D-A26M-08	TCGA-KC-A4BV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f61d1174-470f-4318-9bd9-defe72f8afd2	8329fc61-dda7-4b68-8988-2f6c1214cc2c	g.chr5:140432441A>C	ENST00000306549.3	+	1	1463	c.1386A>C	c.(1384-1386)cgA>cgC	p.R462R		NM_013340.2	NP_037472.2	Q9Y5F3	PCDB1_HUMAN	protocadherin beta 1	462	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|liver(1)|lung(13)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	53			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGACTGTTCGAGAAAACAACA	0.418																																						ENST00000306549.3																			0				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|liver(1)|lung(13)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	53						c.(1384-1386)cgA>cgC									77	75	75					5																	140432441		2203	4300	6503	SO:0001819	synonymous_variant	0				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140432441A>C	AF152488	CCDS4243.1	5q31	2010-01-26			ENSG00000171815	ENSG00000171815		"Cadherins / Protocadherins : Clustered"	8680	other	protocadherin		606327				10380929	Standard	NM_013340		Approved	PCDH-BETA1	uc003lik.1	Q9Y5F3	OTTHUMG00000129627	ENST00000306549.3:c.1386A>C	5.37:g.140432441A>C							p.R462R	NM_013340.2	NP_037472.2	Q9Y5F3	PCDB1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1463	+			462			Cadherin 5.		Q2M257	Silent	SNP	ENST00000306549.3	37	c.1386A>C	CCDS4243.1																																																																																				0.418	PCDHB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251822.2	NM_013340		17	31	0	0	0	1	0	17	31					C	140432441	A	C	140432441	2	2	298	1	0	0	0	0	0	0	0	1	11534	291	11	5		5	PCDHB1	5	140432441	Silent	SNP	A	TCGA-KC-A4BV-01A-31D-A26M-08	50379606	140432441	40482819	12	14253											
PHIP	55023	broad.mit.edu	37	chr6	79713461	79713461	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctctaccttgtcatatttgcTactggacccaaagccaaaaa	13	11	5	12	0	2	0	1	0	1	0	2	1	2	1	3	1	4	1	3	1	6	5			TCGA-KC-A4BV-01A-31D-A26M-08	TCGA-KC-A4BV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f61d1174-470f-4318-9bd9-defe72f8afd2	8329fc61-dda7-4b68-8988-2f6c1214cc2c	g.chr6:79713461T>C	ENST00000275034.4	-	16	1806	c.1639A>G	c.(1639-1641)Agc>Ggc	p.S547G		NM_017934.5	NP_060404	Q8WWQ0	PHIP_HUMAN	pleckstrin homology domain interacting protein	547					cytoskeleton organization (GO:0007010)|insulin receptor signaling pathway (GO:0008286)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of mitosis (GO:0045840)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein import into nucleus (GO:0006606)|regulation of cell morphogenesis (GO:0022604)|regulation of growth (GO:0040008)|regulation of protein phosphorylation (GO:0001932)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	insulin receptor binding (GO:0005158)|lysine-acetylated histone binding (GO:0070577)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(10)|kidney(4)|large_intestine(20)|lung(20)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	68		all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219)		BRCA - Breast invasive adenocarcinoma(397;0.231)		TCATATTTGCTACTGGACCCA	0.383																																						ENST00000275034.4																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(10)|kidney(4)|large_intestine(20)|lung(20)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	68						c.(1639-1641)Agc>Ggc		pleckstrin homology domain interacting protein							75	72	73					6																	79713461		2203	4300	6503	SO:0001583	missense	55023				insulin receptor signaling pathway|negative regulation of apoptosis|positive regulation of cell proliferation|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of mitosis	nucleus	insulin receptor binding	g.chr6:79713461T>C	AF310250	CCDS4987.1	6q14	2013-01-09			ENSG00000146247	ENSG00000146247		"WD repeat domain containing", "DDB1 and CUL4 associated factors"	15673	protein-coding gene	gene with protein product	"DDB1 and CUL4 associated factor 14"	612870		WDR11		11018022	Standard	NM_017934		Approved	ndrp, FLJ20705, DCAF14, BRWD2	uc003pir.3	Q8WWQ0	OTTHUMG00000015071	ENST00000275034.4:c.1639A>G	6.37:g.79713461T>C	ENSP00000275034:p.Ser547Gly						p.S547G	NM_017934.5	NP_060404.3	Q8WWQ0	PHIP_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.231)	16	1806	-		all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219)	547					A7J992|B2RPK4|Q05CQ9|Q5VVH4|Q66I29|Q69YV1|Q8NBZ5|Q96H52|Q96ME2|Q9H261	Missense_Mutation	SNP	ENST00000275034.4	37	c.1639A>G	CCDS4987.1	.	.	.	.	.	.	.	.	.	.	T	13.04	2.118956	0.37436	.	.	ENSG00000146247	ENST00000275034	T	0.42513	0.97	5.42	5.42	0.78866	Quinonprotein alcohol dehydrogenase-like (1);	0.000000	0.85682	D	0.000000	T	0.21921	0.0528	L	0.41236	1.265	0.80722	D	1	P;P	0.38195	0.622;0.622	B;B	0.36885	0.235;0.235	T	0.04029	-1.0983	9	.	.	.	-11.7237	14.9337	0.70935	0.0:0.0:0.0:1.0	.	547;547	A7J992;Q8WWQ0	.;PHIP_HUMAN	G	547	ENSP00000275034:S547G	.	S	-	1	0	PHIP	79770180	1.000000	0.71417	1.000000	0.80357	0.195000	0.23768	3.865000	0.56033	2.176000	0.68965	0.528000	0.53228	AGC		0.383	PHIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041297.2			6	14	0	0	0	1	0	6	14					C	79713461	T	C	79713461	3	2	298	1	0	0	0	0	1	0	0	0	11842	1522	53	4	3926	4	PHIP	6	79713461	Missense_Mutation	SNP	T	TCGA-KC-A4BV-01A-31D-A26M-08		79713461	91401606	13	14254											
SEMA3E	9723	broad.mit.edu	37	chr7	83016314	83016314	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	attaccaacaaactgttgtcCaaagcactgctgagctgcat	13	10	7	11	0	0	1	0	1	0	0	1	1	1	1	2	0	7	5	2	0	4	2			TCGA-KC-A4BV-01A-31D-A26M-08	TCGA-KC-A4BV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f61d1174-470f-4318-9bd9-defe72f8afd2	8329fc61-dda7-4b68-8988-2f6c1214cc2c	g.chr7:83016314C>G	ENST00000307792.3	-	15	2187	c.1720G>C	c.(1720-1722)Gga>Cga	p.G574R	SEMA3E_ENST00000427262.1_Missense_Mutation_p.G514R	NM_012431.2	NP_036563.1	O15041	SEM3E_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E	574					axon guidance (GO:0007411)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell-matrix adhesion (GO:0001953)|patterning of blood vessels (GO:0001569)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of cell shape (GO:0008360)|semaphorin-plexin signaling pathway (GO:0071526)|sprouting angiogenesis (GO:0002040)|synapse organization (GO:0050808)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)	receptor activity (GO:0004872)	p.G574R(1)		breast(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(19)|ovary(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	51		Medulloblastoma(109;0.109)				AACTGTTGTCCAAAGCACTGC	0.358																																						ENST00000307792.3																			1	Substitution - Missense(1)	p.G574R(1)	lung(1)	breast(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(19)|ovary(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	51						c.(1720-1722)Gga>Cga		sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E							86	73	77					7																	83016314		2203	4300	6503	SO:0001583	missense	9723				axon guidance	extracellular space|membrane	receptor activity	g.chr7:83016314C>G	AB002329	CCDS34674.1, CCDS55121.1	7q21.11	2013-01-11			ENSG00000170381	ENSG00000170381		"Semaphorins", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	10727	protein-coding gene	gene with protein product	"M-sema H"	608166		SEMAH		9205841, 9515811	Standard	NM_012431		Approved	M-SemaK, KIAA0331, coll-5	uc003uhy.2	O15041	OTTHUMG00000154693	ENST00000307792.3:c.1720G>C	7.37:g.83016314C>G	ENSP00000303212:p.Gly574Arg					SEMA3E_ENST00000427262.1_Missense_Mutation_p.G514R	p.G574R	NM_012431.2	NP_036563.1	O15041	SEM3E_HUMAN			15	2187	-		Medulloblastoma(109;0.109)	574					B4E1P1|Q75M94|Q75M97	Missense_Mutation	SNP	ENST00000307792.3	37	c.1720G>C	CCDS34674.1	.	.	.	.	.	.	.	.	.	.	C	24.9	4.578048	0.86645	.	.	ENSG00000170381	ENST00000307792;ENST00000427262;ENST00000541514	T;T	0.31247	1.54;1.5	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	T	0.57519	0.2059	M	0.69823	2.125	0.80722	D	1	D	0.67145	0.996	D	0.72338	0.977	T	0.58070	-0.7701	10	0.62326	D	0.03	.	19.6817	0.95967	0.0:1.0:0.0:0.0	.	574	O15041	SEM3E_HUMAN	R	574;514;574	ENSP00000303212:G574R;ENSP00000405052:G514R	ENSP00000303212:G574R	G	-	1	0	SEMA3E	82854250	1.000000	0.71417	1.000000	0.80357	0.882000	0.50991	6.978000	0.76147	2.653000	0.90120	0.650000	0.86243	GGA		0.358	SEMA3E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336606.1	NM_012431		7	9	0	0	0	1	0	7	9					G	83016314	C	G	83016314	3	3	298	1	0	0	0	0	1	0	0	0	14028	603	21	5	619	5	SEMA3E	7	83016314	Missense_Mutation	SNP	C	TCGA-KC-A4BV-01A-31D-A26M-08		83016314	76122349	14	14255											
SPAM1	6677	broad.mit.edu	37	chr7	123594258	123594258	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aattgggaaaattacttcggCcaaatcacttgtggggttat	12	13	10	6	1	1	0	1	0	0	0	2	1	1	1	1	4	1	1	1	4	6	5			TCGA-KC-A4BV-01A-31D-A26M-08	TCGA-KC-A4BV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f61d1174-470f-4318-9bd9-defe72f8afd2	8329fc61-dda7-4b68-8988-2f6c1214cc2c	g.chr7:123594258C>A	ENST00000439500.1	+	4	1247	c.634C>A	c.(634-636)Cca>Aca	p.P212T	SPAM1_ENST00000340011.5_Missense_Mutation_p.P212T|SPAM1_ENST00000460182.1_Missense_Mutation_p.P212T|SPAM1_ENST00000402183.2_Missense_Mutation_p.P212T|SPAM1_ENST00000223028.7_Missense_Mutation_p.P212T	NM_001174045.1|NM_001174046.1	NP_001167516.1|NP_001167517.1	P38567	HYALP_HUMAN	sperm adhesion molecule 1 (PH-20 hyaluronidase, zona pellucida binding)	212					binding of sperm to zona pellucida (GO:0007339)|carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|fusion of sperm to egg plasma membrane (GO:0007342)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)	hyalurononglucosaminidase activity (GO:0004415)			breast(1)|cervix(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(23)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						ATTACTTCGGCCAAATCACTT	0.378																																						ENST00000340011.5																			0				breast(1)|cervix(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(23)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						c.(634-636)Cca>Aca		sperm adhesion molecule 1 (PH-20 hyaluronidase, zona pellucida binding)	Hyaluronidase(DB00070)						79	84	82					7																	123594258		2203	4299	6502	SO:0001583	missense	0				binding of sperm to zona pellucida|carbohydrate metabolic process|cell adhesion|fusion of sperm to egg plasma membrane	anchored to membrane|plasma membrane	hyalurononglucosaminidase activity	g.chr7:123594258C>A	L13781	CCDS5790.1, CCDS5791.1	7q31	2008-05-02			ENSG00000106304	ENSG00000106304			11217	protein-coding gene	gene with protein product		600930				8282124, 8575780	Standard	NM_153189		Approved	HYAL5, PH-20, SPAG15	uc003vle.3	P38567	OTTHUMG00000157284	ENST00000439500.1:c.634C>A	7.37:g.123594258C>A	ENSP00000402123:p.Pro212Thr					SPAM1_ENST00000223028.7_Missense_Mutation_p.P212T|SPAM1_ENST00000402183.2_Missense_Mutation_p.P212T|SPAM1_ENST00000439500.1_Missense_Mutation_p.P212T|SPAM1_ENST00000460182.1_Missense_Mutation_p.P212T	p.P212T	NM_003117.4	NP_003108.2	P38567	HYALP_HUMAN			3	991	+			212					Q8TC30	Missense_Mutation	SNP	ENST00000439500.1	37	c.634C>A	CCDS5791.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.218071	0.79352	.	.	ENSG00000106304	ENST00000402183;ENST00000460182;ENST00000340011;ENST00000439500;ENST00000223028	T;T;T;T;T	0.46451	0.87;0.87;0.87;0.87;0.87	6.17	4.38	0.52667	Aldolase-type TIM barrel (1);Glycoside hydrolase, superfamily (1);	0.000000	0.85682	D	0.000000	T	0.74245	0.3691	H	0.96633	3.855	0.58432	D	0.999996	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.80935	-0.1160	9	.	.	.	-23.9919	11.491	0.50381	0.0:0.8072:0.1259:0.0669	.	212;212	Q8TC30;P38567	.;HYALP_HUMAN	T	212	ENSP00000386028:P212T;ENSP00000417934:P212T;ENSP00000345849:P212T;ENSP00000402123:P212T;ENSP00000223028:P212T	.	P	+	1	0	SPAM1	123381494	1.000000	0.71417	0.100000	0.21137	0.976000	0.68499	7.818000	0.86416	0.941000	0.37499	0.655000	0.94253	CCA		0.378	SPAM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000348309.1			4	26	1	0	0.150653	1	0.156931	4	26					A	123594258	C	A	123594258	3	1	298	1	0	0	0	0	1	0	0	0	14986	739	26	5	636	5	SPAM1	7	123594258	Missense_Mutation	SNP	C	TCGA-KC-A4BV-01A-31D-A26M-08	40577944	123594258	35544405	15	14256											
RP1	6101	broad.mit.edu	37	chr8	55542611	55542611	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atacacaagacctcagcggtCagacaaatgaaatctttaaa	18	8	6	9	1	3	3	2	1	1	2	3	3	3	3	1	1	2	0	1	1	6	3	rs201860457		TCGA-KC-A4BV-01A-31D-A26M-08	TCGA-KC-A4BV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f61d1174-470f-4318-9bd9-defe72f8afd2	8329fc61-dda7-4b68-8988-2f6c1214cc2c	g.chr8:55542611C>G	ENST00000220676.1	+	4	6317	c.6169C>G	c.(6169-6171)Cag>Gag	p.Q2057E		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	2057					axoneme assembly (GO:0035082)|cellular response to light stimulus (GO:0071482)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|photoreceptor cell outer segment organization (GO:0035845)|phototransduction, visible light (GO:0007603)|retinal cone cell development (GO:0046549)|retinal rod cell development (GO:0046548)|visual perception (GO:0007601)	axoneme (GO:0005930)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)	microtubule binding (GO:0008017)			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			CCTCAGCGGTCAGACAAATGA	0.348													C|||	1	0.000199681	0	0	5008	,	,		18027	0		0.001	False		,,,				2504	0				Colon(91;1014 1389 7634 14542 40420)	ENST00000220676.1																			0				NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169						c.(6169-6171)Cag>Gag		retinitis pigmentosa 1 (autosomal dominant)							65	66	65					8																	55542611		2203	4299	6502	SO:0001583	missense	6101				axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding	g.chr8:55542611C>G	AF146592	CCDS6160.1	8q12.1	2013-01-08				ENSG00000104237			10263	protein-coding gene	gene with protein product		603937				1783394	Standard	NM_006269		Approved	DCDC4A	uc003xsd.1	P56715		ENST00000220676.1:c.6169C>G	8.37:g.55542611C>G	ENSP00000220676:p.Gln2057Glu						p.Q2057E	NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)		4	6317	+		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	2057						Missense_Mutation	SNP	ENST00000220676.1	37	c.6169C>G	CCDS6160.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	6.489	0.458354	0.12342	.	.	ENSG00000104237	ENST00000220676	T	0.25749	1.78	5.67	-1.66	0.08265	.	0.864090	0.09791	N	0.755345	T	0.21267	0.0512	M	0.62723	1.935	0.09310	N	1	B	0.14805	0.011	B	0.13407	0.009	T	0.38112	-0.9676	10	0.66056	D	0.02	.	1.544	0.02561	0.2209:0.5284:0.1101:0.1406	.	2057	P56715	RP1_HUMAN	E	2057	ENSP00000220676:Q2057E	ENSP00000220676:Q2057E	Q	+	1	0	RP1	55705164	0.003000	0.15002	0.000000	0.03702	0.054000	0.15201	-0.095000	0.11077	-0.675000	0.05246	-0.469000	0.05056	CAG		0.348	RP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378532.2	NM_006269		10	34	0	0	0	1	0	10	34					G	55542611	C	G	55542611	3	3	298	1	0	0	0	0	1	0	0	0	13532	827	29	5	6179	5	RP1	8	55542611	Missense_Mutation	SNP	C	TCGA-KC-A4BV-01A-31D-A26M-08		55542611	90821411	16	14257											
LRRC24	441381	broad.mit.edu	37	chr8	145747927	145747927	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccccgccccctgttccgggcCgcagtcagcgggcgcctccg	2	5	13	21	6	1	0	1	0	0	0	3	0	3	0	8	2	1	2	8	2	0	1			TCGA-KC-A4BV-01A-31D-A26M-08	TCGA-KC-A4BV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f61d1174-470f-4318-9bd9-defe72f8afd2	8329fc61-dda7-4b68-8988-2f6c1214cc2c	g.chr8:145747927C>A	ENST00000529415.2	-	5	1591	c.1474G>T	c.(1474-1476)Ggc>Tgc	p.G492C	LRRC14_ENST00000292524.1_3'UTR|LRRC24_ENST00000533758.1_Missense_Mutation_p.G489C			Q50LG9	LRC24_HUMAN	leucine rich repeat containing 24	492						integral component of membrane (GO:0016021)				breast(2)|endometrium(1)|kidney(1)|lung(1)	5	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			TGTTCCGGGCCGCAGTCAGCG	0.751																																						ENST00000529415.2																			0				breast(2)|endometrium(1)|kidney(1)|lung(1)	5						c.(1474-1476)Ggc>Tgc		leucine rich repeat containing 24																																				SO:0001583	missense	441381					integral to membrane		g.chr8:145747927C>A	AB178281	CCDS34969.1	8q24.3	2013-01-11			ENSG00000254402	ENSG00000254402		"Immunoglobulin superfamily / I-set domain containing"	28947	protein-coding gene	gene with protein product						7584026	Standard	NM_001024678		Approved	LRRC14OS	uc003zdm.3	Q50LG9	OTTHUMG00000165180	ENST00000529415.2:c.1474G>T	8.37:g.145747927C>A	ENSP00000434849:p.Gly492Cys					LRRC24_ENST00000533758.1_Missense_Mutation_p.G489C|LRRC14_ENST00000292524.1_3'UTR	p.G492C			Q50LG9	LRC24_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)		5	1591	-	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		492						Missense_Mutation	SNP	ENST00000529415.2	37	c.1474G>T	CCDS34969.1	.	.	.	.	.	.	.	.	.	.	C	15.98	2.991950	0.54041	.	.	ENSG00000254402	ENST00000529415;ENST00000533758	T;T	0.56444	0.59;0.46	3.78	1.52	0.23074	.	2.637730	0.01618	N	0.022853	T	0.51517	0.1679	N	0.19112	0.55	0.09310	N	1	D;D	0.69078	0.997;0.994	P;P	0.54889	0.763;0.584	T	0.39014	-0.9634	10	0.62326	D	0.03	.	6.0316	0.19683	0.0:0.6178:0.0:0.3822	.	489;492	G3V1D8;Q50LG9	.;LRC24_HUMAN	C	492;489	ENSP00000434849:G492C;ENSP00000435653:G489C	ENSP00000434849:G492C	G	-	1	0	LRRC24	145718735	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.312000	0.08113	0.102000	0.17638	0.462000	0.41574	GGC		0.751	LRRC24-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382501.2	NM_001024678		2	2	1	0	1	1	1	2	2					A	145747927	C	A	145747927	3	1	298	1	0	0	0	0	1	0	0	0	8979	652	23	5	71	5	LRRC24	8	145747927	Missense_Mutation	SNP	C	TCGA-KC-A4BV-01A-31D-A26M-08	90205316	145747927	616095	17	14258											
ZWINT	11130	broad.mit.edu	37	chr10	58118485	58118485	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	agctggaggaaggtctgataCctacaaagaggaggtaagtg	14	7	15	5	0	1	2	0	1	1	1	1	5	1	5	1	5	3	2	1	5	5	3			TCGA-KC-A4BV-01A-31D-A26M-08	TCGA-KC-A4BV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f61d1174-470f-4318-9bd9-defe72f8afd2	8329fc61-dda7-4b68-8988-2f6c1214cc2c	g.chr10:58118485C>A	ENST00000373944.3	-	7	662	c.624G>T	c.(622-624)agG>agT	p.R208S	ZWINT_ENST00000460654.1_Intron|ZWINT_ENST00000361148.6_Intron|ZWINT_ENST00000318387.2_Splice_Site_p.R88S|ZWINT_ENST00000395405.1_Splice_Site_p.R208S			O95229	ZWINT_HUMAN	ZW10 interacting kinetochore protein	208					establishment of localization in cell (GO:0051649)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic sister chromatid segregation (GO:0000070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|kinetochore (GO:0000776)|nucleus (GO:0005634)	protein N-terminus binding (GO:0047485)			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)	20						AGGTCTGATACCTACAAAGAG	0.517																																						ENST00000373944.3																			0				NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)	20						c.e7-1		ZW10 interacting kinetochore protein							81	75	77					10																	58118485		2203	4300	6503	SO:0001630	splice_region_variant	0				cell division|establishment of localization in cell|mitotic cell cycle checkpoint|mitotic prometaphase|mitotic sister chromatid segregation|phosphatidylinositol-mediated signaling|spindle organization	condensed chromosome kinetochore|cytosol|nucleus	protein N-terminus binding	g.chr10:58118485C>A	AF067656	CCDS7249.1, CCDS31205.1	10q21-q22	2013-05-01	2013-05-01		ENSG00000122952	ENSG00000122952			13195	protein-coding gene	gene with protein product		609177	"ZW10 interactor"				Standard	XM_005269463		Approved	KNTC2AP	uc001jka.1	O95229	OTTHUMG00000018261	ENST00000373944.3:c.624-1G>T	10.37:g.58118485C>A						ZWINT_ENST00000460654.1_Intron|ZWINT_ENST00000318387.2_Splice_Site_p.R88_splice|ZWINT_ENST00000361148.6_Intron|ZWINT_ENST00000395405.1_Splice_Site_p.R208_splice	p.R208_splice			O95229	ZWINT_HUMAN			7	662	-			208					A6NNV6|Q0D2I3|Q9BWD0	Splice_Site	SNP	ENST00000373944.3	37	c.623_splice	CCDS7249.1	.	.	.	.	.	.	.	.	.	.	C	11.90	1.776642	0.31411	.	.	ENSG00000122952	ENST00000373944;ENST00000395405;ENST00000318387	T;T;T	0.55052	0.54;0.54;0.54	4.35	2.35	0.29111	.	0.000000	0.51477	D	0.000091	T	0.52208	0.1720	M	0.62723	1.935	0.30325	N	0.787232	P	0.50943	0.94	P	0.50352	0.638	T	0.56282	-0.8005	10	0.87932	D	0	.	3.9067	0.09185	0.2331:0.6338:0.0:0.1331	.	208	O95229	ZWINT_HUMAN	S	208;208;88	ENSP00000363055:R208S;ENSP00000378801:R208S;ENSP00000322850:R88S	ENSP00000322850:R88S	R	-	3	2	ZWINT	57788491	0.954000	0.32549	0.986000	0.45419	0.007000	0.05969	0.229000	0.17833	0.671000	0.31185	0.563000	0.77884	AGG		0.517	ZWINT-009	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048132.1		Missense_Mutation	15	25	1	0	2.61681e-11	1	2.84436e-11	15	25					A	58118485	C	A	58118485	5	1	298	1	0	0	0	0	0	0	1	0	18246	521	18	5	217	5	ZWINT	10	58118485	Splice_Site	SNP	C	TCGA-KC-A4BV-01A-31D-A26M-08		58118485	77416262	18	14259											
PTEN	5728	broad.mit.edu	37	chr10	89711886	89711887	+	Frame_Shift_Ins	INS	-	-	C																															tccaccagggagtaactattINScccagtcagaggcgctatgt																										TCGA-KC-A4BV-01A-31D-A26M-08	TCGA-KC-A4BV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f61d1174-470f-4318-9bd9-defe72f8afd2	8329fc61-dda7-4b68-8988-2f6c1214cc2c	g.chr10:89711886_89711887insC	ENST00000371953.3	+	6	1861_1862	c.504_505insC	c.(505-507)cccfs	p.P169fs		NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	169	Phosphatase tensin-type. {ECO:0000255|PROSITE-ProRule:PRU00590}.				activation of mitotic anaphase-promoting complex activity (GO:0007092)|aging (GO:0007568)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|brain morphogenesis (GO:0048854)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle tissue development (GO:0048738)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|central nervous system myelin maintenance (GO:0032286)|central nervous system neuron axonogenesis (GO:0021955)|dendritic spine morphogenesis (GO:0060997)|dentate gyrus development (GO:0021542)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|innate immune response (GO:0045087)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|learning or memory (GO:0007611)|locomotor rhythm (GO:0045475)|locomotory behavior (GO:0007626)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|male mating behavior (GO:0060179)|maternal behavior (GO:0042711)|memory (GO:0007613)|multicellular organismal response to stress (GO:0033555)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell aging (GO:0090344)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031658)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myelination (GO:0031642)|negative regulation of organ growth (GO:0046621)|negative regulation of phagocytosis (GO:0050765)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of ribosome biogenesis (GO:0090071)|negative regulation of synaptic vesicle clustering (GO:2000808)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell proliferation (GO:0008284)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|postsynaptic density assembly (GO:0097107)|prepulse inhibition (GO:0060134)|presynaptic membrane assembly (GO:0097105)|prostate gland growth (GO:0060736)|protein dephosphorylation (GO:0006470)|protein kinase B signaling (GO:0043491)|protein stabilization (GO:0050821)|regulation of B cell apoptotic process (GO:0002902)|regulation of cellular component size (GO:0032535)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of neuron projection development (GO:0010975)|regulation of protein stability (GO:0031647)|response to arsenic-containing substance (GO:0046685)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse maturation (GO:0060074)|T cell receptor signaling pathway (GO:0050852)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|myelin sheath adaxonal region (GO:0035749)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)	anaphase-promoting complex binding (GO:0010997)|enzyme binding (GO:0019899)|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity (GO:0051717)|lipid binding (GO:0008289)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity (GO:0051800)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.0?(37)|p.R55fs*1(5)|p.?(4)|p.V166fs*17(3)|p.G165fs*9(3)|p.Y27fs*1(2)|p.V166fs*10(1)|p.G165_*404del(1)|p.I168fs*15(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		GAGTAACTATTCCCAGTCAGAG	0.361		31	"D, Mis, N, F, S"		"glioma,  prostate, endometrial"	"harmartoma, glioma,  prostate, endometrial"			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																												ENST00000371953.3		31	yes	Rec	yes	"Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"	10	10q23.3	5728	"D, Mis, N, F, S"	phosphatase and tensin homolog gene			"L, E, M, O"		"harmartoma, glioma,  prostate, endometrial"	"glioma,  prostate, endometrial"		57	Whole gene deletion(37)|Deletion - Frameshift(11)|Complex - frameshift(4)|Unknown(4)|Deletion - In frame(1)	p.0?(37)|p.R55fs*1(5)|p.?(4)|p.V166fs*17(3)|p.G165fs*9(3)|p.Y27fs*1(2)|p.V166fs*10(1)|p.G165_*404del(1)|p.I168fs*15(1)	prostate(16)|central_nervous_system(13)|skin(8)|endometrium(4)|lung(4)|ovary(4)|haematopoietic_and_lymphoid_tissue(3)|breast(3)|soft_tissue(1)|urinary_tract(1)	NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771						c.(502-507)atccagfs		phosphatase and tensin homolog																																				SO:0001589	frameshift_variant	5728	Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	Familial Cancer Database	Incl.: Encephalocraniocutaneous Lipomatosis, ECCL, Proteus-like s.;incl.: Juvenile Polyposis of the Stomach;HMPS1, Colorectal Adenoma Carcinoma syndrome, CRAC, CRAC1;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;subset of PTEN-Hamartoma Tumor Syndrome; incl.: Ruvalcaba-Myhre-Smith s.	activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr10:89711886_89711887insC	U92436	CCDS31238.1	10q23	2014-09-17	2008-07-31		ENSG00000171862	ENSG00000171862		"Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"	9588	protein-coding gene	gene with protein product	"mutated in multiple advanced cancers 1"	601728		BZS, MHAM		9090379	Standard	NM_000314		Approved	MMAC1, TEP1, PTEN1	uc001kfb.3	P60484	OTTHUMG00000018688	ENST00000371953.3:c.507dupC	10.37:g.89711889_89711889dupC	ENSP00000361021:p.Pro169fs	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)					p.Q169fs	NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)	6	1861_1862	+		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	169			Phosphatase tensin-type.		B2R904|F2YHV0|O00633|O02679|Q6ICT7	Frame_Shift_Ins	INS	ENST00000371953.3	37	c.504_505insC	CCDS31238.1																																																																																				0.361	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1	NM_000314		13	20						13	20	---	---	---	---	C	89711887	-	C	89711886	7	5	298	1	0	1	1	0	0	0	0	0	12738	1771	62	0	526	0	PTEN	10	89711886	Frame_Shift_Ins	INS	-	TCGA-KC-A4BV-01A-31D-A26M-08	31593401	89711886	45822861	19	14260											
IFIT2	3433	broad.mit.edu	37	chr10	91066539	91066539	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgcttaaaaaggctttagaaTacataccaaacaatgcctac	17	10	5	9	0	0	1	0	0	0	1	0	1	0	1	2	1	6	2	2	1	10	6			TCGA-KC-A4BV-01A-31D-A26M-08	TCGA-KC-A4BV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f61d1174-470f-4318-9bd9-defe72f8afd2	8329fc61-dda7-4b68-8988-2f6c1214cc2c	g.chr10:91066539T>A	ENST00000371826.3	+	2	995	c.826T>A	c.(826-828)Tac>Aac	p.Y276N	LIPA_ENST00000487618.1_Intron|LIPA_ENST00000371837.1_Intron	NM_001547.4	NP_001538.4	P09913	IFIT2_HUMAN	interferon-induced protein with tetratricopeptide repeats 2	276					apoptotic mitochondrial changes (GO:0008637)|cellular response to interferon-alpha (GO:0035457)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|negative regulation of protein binding (GO:0032091)|positive regulation of apoptotic process (GO:0043065)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)	poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(2)|large_intestine(5)|lung(2)|ovary(1)|skin(1)	12		Colorectal(252;0.0161)				GGCTTTAGAATACATACCAAA	0.418																																						ENST00000371826.3																			0				endometrium(1)|kidney(2)|large_intestine(5)|lung(2)|ovary(1)|skin(1)	12						c.(826-828)Tac>Aac		interferon-induced protein with tetratricopeptide repeats 2							126	121	123					10																	91066539		1912	4149	6061	SO:0001583	missense	3433				negative regulation of protein binding|response to virus|type I interferon-mediated signaling pathway		protein binding	g.chr10:91066539T>A	M14660	CCDS41548.1	10q23.31	2013-01-11			ENSG00000119922	ENSG00000119922		"Tetratricopeptide (TTC) repeat domain containing"	5409	protein-coding gene	gene with protein product		147040		IFI54, G10P2		3175763, 3360121	Standard	NM_001547		Approved	IFI-54, ISG-54K, cig42, GARG-39	uc009xts.3	P09913	OTTHUMG00000018707	ENST00000371826.3:c.826T>A	10.37:g.91066539T>A	ENSP00000360891:p.Tyr276Asn					LIPA_ENST00000487618.1_Intron|LIPA_ENST00000371837.1_Intron	p.Y276N	NM_001547.4	NP_001538.4	P09913	IFIT2_HUMAN			2	995	+		Colorectal(252;0.0161)	276					Q5T767	Missense_Mutation	SNP	ENST00000371826.3	37	c.826T>A	CCDS41548.1	.	.	.	.	.	.	.	.	.	.	T	9.447	1.089629	0.20390	.	.	ENSG00000119922	ENST00000371826	T	0.60040	0.22	4.58	-9.16	0.00694	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	4.732320	0.01046	U	0.004391	T	0.28732	0.0712	N	0.08118	0	0.09310	N	1	B	0.30973	0.302	B	0.28385	0.089	T	0.16837	-1.0389	10	0.26408	T	0.33	5.009	4.5265	0.11983	0.1667:0.322:0.4022:0.1091	.	276	P09913	IFIT2_HUMAN	N	276	ENSP00000360891:Y276N	ENSP00000360891:Y276N	Y	+	1	0	IFIT2	91056519	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-4.810000	0.00183	-1.870000	0.01139	0.533000	0.62120	TAC		0.418	IFIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049293.1	NM_001547		12	45	0	0	0	1	0	12	45					A	91066539	T	A	91066539	3	1	298	1	0	0	0	0	1	0	0	0	7523	1406	49	5	832	5	IFIT2	10	91066539	Missense_Mutation	SNP	T	TCGA-KC-A4BV-01A-31D-A26M-08	1354653	91066539	44468208	20	14261											
C10orf118	55088	broad.mit.edu	37	chr10	115917401	115917401	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctttttctgaacaaatgtctAcgaagagctcctgatgcttc	10	14	7	10	1	2	3	0	2	2	1	4	4	3	3	1	0	4	2	1	0	4	4			TCGA-KC-A4BV-01A-31D-A26M-08	TCGA-KC-A4BV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f61d1174-470f-4318-9bd9-defe72f8afd2	8329fc61-dda7-4b68-8988-2f6c1214cc2c	g.chr10:115917401A>G	ENST00000369287.3	-	3	937	c.671T>C	c.(670-672)gTa>gCa	p.V224A		NM_018017.2	NP_060487.2	Q7Z3E2	CC186_HUMAN		224										NS(1)|autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(9)|ovary(2)	24		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0161)|all cancers(201;0.0397)		ACAAATGTCTACGAAGAGCTC	0.284																																						ENST00000369287.3																			0				NS(1)|autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(9)|ovary(2)	24						c.(670-672)gTa>gCa		chromosome 10 open reading frame 118							88	87	87					10																	115917401		2202	4299	6501	SO:0001583	missense	55088							g.chr10:115917401A>G																												ENST00000369287.3:c.671T>C	10.37:g.115917401A>G	ENSP00000358293:p.Val224Ala						p.V224A	NM_018017.2	NP_060487.2	Q7Z3E2	CJ118_HUMAN		Epithelial(162;0.0161)|all cancers(201;0.0397)	3	937	-		Colorectal(252;0.172)|Breast(234;0.188)	224					Q2M2V6|Q3ZB81|Q6NS91|Q7RTP1|Q8N117|Q8N3G3|Q8N6C2|Q9NWA3	Missense_Mutation	SNP	ENST00000369287.3	37	c.671T>C	CCDS7587.1	.	.	.	.	.	.	.	.	.	.	A	16.59	3.164786	0.57476	.	.	ENSG00000165813	ENST00000369287;ENST00000430353	T	0.29655	1.56	5.49	5.49	0.81192	.	0.310059	0.31312	N	0.007869	T	0.21427	0.0516	N	0.22421	0.69	0.80722	D	1	B	0.20164	0.042	B	0.21151	0.033	T	0.06935	-1.0799	10	0.20046	T	0.44	.	13.3758	0.60739	1.0:0.0:0.0:0.0	.	224	Q7Z3E2	CJ118_HUMAN	A	224;330	ENSP00000358293:V224A	ENSP00000358293:V224A	V	-	2	0	C10orf118	115907391	1.000000	0.71417	0.999000	0.59377	0.874000	0.50279	8.013000	0.88655	2.083000	0.62718	0.529000	0.55759	GTA		0.284	C10orf118-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050455.1			7	10	0	0	0	1	0	7	10					G	115917401	A	G	115917401	3	3	298	1	0	0	0	0	1	0	0	0	1587	391	14	4	2081	4	C10orf118	10	115917401	Missense_Mutation	SNP	A	TCGA-KC-A4BV-01A-31D-A26M-08	24850862	115917401	19617346	21	14262											
C11orf57	55216	broad.mit.edu	37	chr11	111948994	111948994	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actggaaaaacagatggaagAtgcttaccgggggaccaaaa	17	5	12	7	1	0	2	0	0	0	2	0	5	0	5	2	4	3	1	2	4	6	1			TCGA-KC-A4BV-01A-31D-A26M-08	TCGA-KC-A4BV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f61d1174-470f-4318-9bd9-defe72f8afd2	8329fc61-dda7-4b68-8988-2f6c1214cc2c	g.chr11:111948994A>G	ENST00000280352.9	+	3	761	c.125A>G	c.(124-126)gAt>gGt	p.D42G	C11orf57_ENST00000393047.3_Missense_Mutation_p.D42G|C11orf57_ENST00000420986.2_Missense_Mutation_p.D42G|C11orf57_ENST00000532163.1_Missense_Mutation_p.D13G|C11orf57_ENST00000530104.1_Missense_Mutation_p.D42G	NM_001082970.1|NM_018195.3	NP_001076439.1|NP_060665.3	Q6ZUT1	CK057_HUMAN	chromosome 11 open reading frame 57	42										autonomic_ganglia(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(1)|ovary(1)|prostate(1)	12		all_cancers(61;9.8e-15)|all_epithelial(67;6.57e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		Epithelial(105;3.6e-07)|BRCA - Breast invasive adenocarcinoma(274;6.17e-07)|all cancers(92;7.01e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0521)		CAGATGGAAGATGCTTACCGG	0.338																																						ENST00000532163.1																			0				autonomic_ganglia(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(1)|ovary(1)|prostate(1)	12						c.(37-39)gAt>gGt		chromosome 11 open reading frame 57							55	59	57					11																	111948994		2201	4297	6498	SO:0001583	missense	55216							g.chr11:111948994A>G	BX538107	CCDS8356.2, CCDS41715.1, CCDS73383.1	11q23.1	2006-03-09			ENSG00000150776	ENSG00000150776			25569	protein-coding gene	gene with protein product						12477932	Standard	NM_001082970		Approved	FLJ10726	uc001pmw.4	Q6ZUT1	OTTHUMG00000150213	ENST00000280352.9:c.125A>G	11.37:g.111948994A>G	ENSP00000339076:p.Asp42Gly					C11orf57_ENST00000530104.1_Missense_Mutation_p.D42G|C11orf57_ENST00000420986.2_Missense_Mutation_p.D42G|C11orf57_ENST00000280352.9_Missense_Mutation_p.D42G|C11orf57_ENST00000393047.3_Missense_Mutation_p.D42G	p.D13G			Q6ZUT1	CK057_HUMAN		Epithelial(105;3.6e-07)|BRCA - Breast invasive adenocarcinoma(274;6.17e-07)|all cancers(92;7.01e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0521)	3	804	+		all_cancers(61;9.8e-15)|all_epithelial(67;6.57e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)	42					Q5RL41|Q6IN53|Q7Z357|Q8N2T3	Missense_Mutation	SNP	ENST00000280352.9	37	c.38A>G	CCDS41715.1	.	.	.	.	.	.	.	.	.	.	A	18.17	3.565400	0.65651	.	.	ENSG00000150776	ENST00000420986;ENST00000532163;ENST00000280352;ENST00000530104;ENST00000526879;ENST00000393047;ENST00000525785	.	.	.	5.48	5.48	0.80851	.	0.263724	0.37761	N	0.001954	T	0.63474	0.2514	L	0.47716	1.5	0.39292	D	0.964752	P;P;B	0.50819	0.879;0.939;0.42	P;P;B	0.52823	0.503;0.71;0.198	T	0.68716	-0.5335	9	0.62326	D	0.03	-4.0799	15.2101	0.73214	1.0:0.0:0.0:0.0	.	42;42;42	E9PLE3;Q6ZUT1-2;Q6ZUT1	.;.;CK057_HUMAN	G	42;13;42;42;42;42;13	.	ENSP00000339076:D42G	D	+	2	0	C11orf57	111454204	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.869000	0.63028	2.069000	0.61940	0.443000	0.29094	GAT		0.338	C11orf57-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000316852.1	NM_018195		6	16	0	0	0	1	0	6	16					G	111948994	A	G	111948994	3	3	298	1	0	0	0	0	1	0	0	0	1650	333	12	4	131	4	C11orf57	11	111948994	Missense_Mutation	SNP	A	TCGA-KC-A4BV-01A-31D-A26M-08		111948994	23057522	22	14263											
OASL	8638	broad.mit.edu	37	chr12	121476763	121476764	+	Frame_Shift_Ins	INS	-	-	A																															gtgtgctatacagttcctgcINSatcagtgccatctctgtccc																										TCGA-KC-A4BV-01A-31D-A26M-08	TCGA-KC-A4BV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f61d1174-470f-4318-9bd9-defe72f8afd2	8329fc61-dda7-4b68-8988-2f6c1214cc2c	g.chr12:121476763_121476764insA	ENST00000257570.5	-	1	281_282	c.11_12insT	c.(10-12)atgfs	p.M4fs	OASL_ENST00000339275.5_Frame_Shift_Ins_p.M4fs	NM_003733.3	NP_003724.1	Q15646	OASL_HUMAN	2'-5'-oligoadenylate synthetase-like	4					cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of viral genome replication (GO:0045071)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleolus (GO:0005730)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)|thyroid hormone receptor binding (GO:0046966)|transferase activity (GO:0016740)			NS(1)|endometrium(3)|large_intestine(4)|lung(4)|skin(2)	14	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					ACAGTTCCTGCATCAGTGCCAT	0.589																																					Colon(192;517 2041 31392 31913 39966)	ENST00000257570.5																			0				NS(1)|endometrium(3)|large_intestine(4)|lung(4)|skin(2)	14						c.(10-12)acafs		2'-5'-oligoadenylate synthetase-like																																				SO:0001589	frameshift_variant	8638				interferon-gamma-mediated signaling pathway|type I interferon-mediated signaling pathway	cytoplasm|nucleolus	ATP binding|DNA binding|double-stranded RNA binding|thyroid hormone receptor binding|transferase activity	g.chr12:121476763_121476764insA	AF063611	CCDS9211.1, CCDS9212.1, CCDS73536.1	12q24.2	2008-08-05			ENSG00000135114	ENSG00000135114			8090	protein-coding gene	gene with protein product		603281				10087211	Standard	NM_003733		Approved	TRIP14, p59OASL	uc001tzj.2	Q15646	OTTHUMG00000154981	ENST00000257570.5:c.12dupT	12.37:g.121476764_121476764dupA	ENSP00000257570:p.Met4fs					OASL_ENST00000339275.5_Frame_Shift_Ins_p.T4fs	p.T4fs	NM_003733.3	NP_003724.1	Q15646	OASL_HUMAN			1	281_282	-	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)		4					B2RAZ2|I1YDD2|O75686|Q17R95|Q9Y6K6|Q9Y6K7	Frame_Shift_Ins	INS	ENST00000257570.5	37	c.11_12insT	CCDS9211.1																																																																																				0.589	OASL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337875.2	NM_003733		11	28						11	28	---	---	---	---	A	121476764	-	A	121476763	7	5	298	1	0	1	1	0	0	0	0	0	10802	710	25	0	1556	0	OASL	12	121476763	Frame_Shift_Ins	INS	-	TCGA-KC-A4BV-01A-31D-A26M-08		121476763	12375132	23	14264											
PSMC6	5706	broad.mit.edu	37	chr14	53173992	53173992	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	accgcaagaagttgcttgaaCacaaggagatcgacggccgt	13	6	12	10	4	0	3	0	1	0	2	1	5	0	3	2	2	2	3	2	2	4	2			TCGA-KC-A4BV-01A-31D-A26M-08	TCGA-KC-A4BV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f61d1174-470f-4318-9bd9-defe72f8afd2	8329fc61-dda7-4b68-8988-2f6c1214cc2c	g.chr14:53173992C>T	ENST00000606149.1	+	1	71	c.55C>T	c.(55-57)Cac>Tac	p.H19Y	PSMC6_ENST00000445930.2_Missense_Mutation_p.H33Y	NM_002806.3	NP_002797.3	P62333	PRS10_HUMAN	proteasome (prosome, macropain) 26S subunit, ATPase, 6	19					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|ATP catabolic process (GO:0006200)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|protein binding, bridging (GO:0030674)			breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)	19	Breast(41;0.176)					GTTGCTTGAACACAAGGAGAT	0.532																																						ENST00000445930.2																			0				breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)	19						c.(97-99)Cac>Tac		proteasome (prosome, macropain) 26S subunit, ATPase, 6							62	53	56					14																	53173992		2203	4300	6503	SO:0001583	missense	5706				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome complex	ATP binding|ATPase activity|protein binding, bridging	g.chr14:53173992C>T		CCDS9710.2	14q22.1	2010-04-21			ENSG00000100519	ENSG00000100519		"Proteasome (prosome, macropain) subunits", "ATPases / AAA-type"	9553	protein-coding gene	gene with protein product		602708				8674546, 9473509	Standard	NM_002806		Approved	p42	uc010tqx.2	P62333	OTTHUMG00000152333	ENST00000606149.1:c.55C>T	14.37:g.53173992C>T	ENSP00000475721:p.His19Tyr					PSMC6_ENST00000606149.1_Missense_Mutation_p.H19Y	p.H33Y			P62333	PRS10_HUMAN			1	103	+	Breast(41;0.176)		19					B2R975|P49719|Q6IBU3|Q92524	Missense_Mutation	SNP	ENST00000606149.1	37	c.97C>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.44|17.44	3.389264|3.389264	0.61956|0.61956	.|.	.|.	ENSG00000100519|ENSG00000100519	ENST00000445930|ENST00000555339;ENST00000556813	D|.	0.93906|.	-3.31|.	4.64|4.64	4.64|4.64	0.57946|0.57946	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.70211|0.70211	0.3198|0.3198	L|L	0.54323|0.54323	1.7|1.7	0.80722|0.80722	D|D	1|1	B|.	0.10296|.	0.003|.	B|.	0.15484|.	0.013|.	T|T	0.68104|0.68104	-0.5497|-0.5497	10|5	0.11182|.	T|.	0.66|.	.|.	17.6419|17.6419	0.88139|0.88139	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	19|.	P62333|.	PRS10_HUMAN|.	Y|I	33|19;18	ENSP00000401802:H33Y|.	ENSP00000401802:H33Y|.	H|T	+|+	1|2	0|0	PSMC6|PSMC6	52243742|52243742	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.981000|0.981000	0.71138|0.71138	6.549000|6.549000	0.73900|0.73900	2.561000|2.561000	0.86390|0.86390	0.561000|0.561000	0.74099|0.74099	CAC|ACA		0.532	PSMC6-018	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000470741.1	NM_002806		16	29	0	0	0	1	0	16	29					T	53173992	C	T	53173992	3	4	298	1	0	0	0	0	1	0	0	0	12691	478	17	3	99	3	PSMC6	14	53173992	Missense_Mutation	SNP	C	TCGA-KC-A4BV-01A-31D-A26M-08		53173992	54175548	24	14265											
PLA2G4F	255189	broad.mit.edu	37	chr15	42439840	42439840	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ttaccaggtagacccagagaCcccactcaggtaggtcacag	12	6	10	13	0	2	2	2	0	0	2	2	3	2	2	4	3	1	2	4	3	3	3			TCGA-KC-A4BV-01A-31D-A26M-08	TCGA-KC-A4BV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f61d1174-470f-4318-9bd9-defe72f8afd2	8329fc61-dda7-4b68-8988-2f6c1214cc2c	g.chr15:42439840C>T	ENST00000382396.4	-	12	1266	c.1180G>A	c.(1180-1182)Gtc>Atc	p.V394I	PLA2G4F_ENST00000397272.3_Missense_Mutation_p.V396I			Q68DD2	PA24F_HUMAN	phospholipase A2, group IVF	394	PLA2c. {ECO:0000255|PROSITE- ProRule:PRU00555}.				arachidonic acid secretion (GO:0050482)|cellular response to antibiotic (GO:0071236)|cellular response to organic cyclic compound (GO:0071407)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid catabolic process (GO:0009395)|phospholipid metabolic process (GO:0006644)|prostaglandin biosynthetic process (GO:0001516)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|lysosome (GO:0005764)|ruffle membrane (GO:0032587)|vesicle (GO:0031982)	calcium-dependent phospholipase A2 activity (GO:0047498)|lysophospholipase activity (GO:0004622)|metal ion binding (GO:0046872)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32		all_cancers(109;4.82e-12)|all_epithelial(112;5.64e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091)		GBM - Glioblastoma multiforme(94;8.97e-07)		GACCCAGAGACCCCACTCAGG	0.602																																						ENST00000397272.3																			0				breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32						c.(1186-1188)Gtc>Atc		phospholipase A2, group IVF							116	122	120					15																	42439840		2203	4299	6502	SO:0001583	missense	255189				phospholipid catabolic process	cytosol|lysosomal membrane	metal ion binding|phospholipase A2 activity	g.chr15:42439840C>T		CCDS32204.1	15q15.1	2008-09-19				ENSG00000168907	3.1.1.4		27396	protein-coding gene	gene with protein product						14702039, 15866882	Standard	NM_213600		Approved	PLA2G4F/Z	uc001zoz.3	Q68DD2		ENST00000382396.4:c.1180G>A	15.37:g.42439840C>T	ENSP00000371833:p.Val394Ile					PLA2G4F_ENST00000382396.4_Missense_Mutation_p.V394I	p.V396I	NM_213600.3	NP_998765.3	Q68DD2	PA24F_HUMAN		GBM - Glioblastoma multiforme(94;8.97e-07)	12	1277	-		all_cancers(109;4.82e-12)|all_epithelial(112;5.64e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091)	394			PLA2c.		Q6ZMC8	Missense_Mutation	SNP	ENST00000382396.4	37	c.1186G>A	CCDS32204.1	.	.	.	.	.	.	.	.	.	.	C	13.50	2.256045	0.39896	.	.	ENSG00000168907	ENST00000290497;ENST00000397272;ENST00000382396;ENST00000357924;ENST00000443825	T;T	0.05513	3.43;3.43	5.29	4.3	0.51218	Acyl transferase/acyl hydrolase/lysophospholipase (1);Lysophospholipase, catalytic domain (3);	0.096304	0.44285	D	0.000462	T	0.05914	0.0154	L	0.48877	1.53	0.31625	N	0.649776	P;P	0.38129	0.619;0.619	B;B	0.33890	0.172;0.172	T	0.09422	-1.0675	10	0.17369	T	0.5	-36.4517	11.3232	0.49435	0.0:0.8747:0.0:0.1253	.	181;394	A2RRC4;Q68DD2	.;PA24F_HUMAN	I	390;396;394;394;394	ENSP00000380442:V396I;ENSP00000371833:V394I	ENSP00000290497:V390I	V	-	1	0	PLA2G4F	40227132	0.994000	0.37717	1.000000	0.80357	0.973000	0.67179	3.327000	0.52045	2.756000	0.94617	0.561000	0.74099	GTC		0.602	PLA2G4F-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000420463.1	NM_213600		8	188	0	0	0	1	0	8	188					T	42439840	C	T	42439840	3	4	298	1	0	0	0	0	1	0	0	0	12006	507	18	3	1405	3	PLA2G4F	15	42439840	Missense_Mutation	SNP	C	TCGA-KC-A4BV-01A-31D-A26M-08		42439840	60091552	25	14266											
DUOX1	53905	broad.mit.edu	37	chr15	45433155	45433155	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tggctagagctgctccctggGggactcctggagagccaccg	6	7	15	13	1	0	2	0	0	0	2	2	4	2	3	4	4	3	3	4	4	1	1			TCGA-KC-A4BV-01A-31D-A26M-08	TCGA-KC-A4BV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f61d1174-470f-4318-9bd9-defe72f8afd2	8329fc61-dda7-4b68-8988-2f6c1214cc2c	g.chr15:45433155G>A	ENST00000321429.4	+	14	1859	c.1452G>A	c.(1450-1452)ggG>ggA	p.G484G	DUOX1_ENST00000389037.3_Silent_p.G484G|DUOX1_ENST00000561166.1_Silent_p.G130G	NM_017434.3	NP_059130.2	Q9NRD9	DUOX1_HUMAN	dual oxidase 1	484	Peroxidase-like; mediates peroxidase activity.				cuticle development (GO:0042335)|cytokine-mediated signaling pathway (GO:0019221)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide biosynthetic process (GO:0050665)|hydrogen peroxide catabolic process (GO:0042744)|oxidation-reduction process (GO:0055114)|response to cAMP (GO:0051591)|superoxide anion generation (GO:0042554)|thyroid hormone generation (GO:0006590)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|heme binding (GO:0020037)|NAD(P)H oxidase activity (GO:0016174)|NADP binding (GO:0050661)|peroxidase activity (GO:0004601)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|lung(16)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)	57		all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717)		TGCTCCCTGGGGGACTCCTGG	0.572																																						ENST00000321429.4																			0				breast(2)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|lung(16)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)	57						c.(1450-1452)ggG>ggA		dual oxidase 1							92	92	92					15																	45433155		2198	4298	6496	SO:0001819	synonymous_variant	53905				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|superoxide anion generation	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|NADP binding|peroxidase activity	g.chr15:45433155G>A	AF213465	CCDS32221.1	15q21	2013-01-10				ENSG00000137857		"EF-hand domain containing"	3062	protein-coding gene	gene with protein product	"NADPH thyroid oxidase 1", "flavoprotein NADPH oxidase", "nicotinamide adenine dinucleotide phosphate oxidase"	606758				10806195	Standard	XM_005254463		Approved	NOXEF1, THOX1, LNOX1	uc001zut.1	Q9NRD9		ENST00000321429.4:c.1452G>A	15.37:g.45433155G>A						DUOX1_ENST00000389037.3_Silent_p.G484G|DUOX1_ENST00000561166.1_Silent_p.G130G	p.G484G	NM_017434.3	NP_059130.2	Q9NRD9	DUOX1_HUMAN		all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717)	14	1859	+		all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)	484			Peroxidase-like; mediates peroxidase activity.		A6NH28|Q14C94|Q6ZMB3|Q6ZR09|Q9NZC1	Silent	SNP	ENST00000321429.4	37	c.1452G>A	CCDS32221.1																																																																																				0.572	DUOX1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416251.1	NM_017434		33	50	0	0	0	1	0	33	50					A	45433155	G	A	45433155	2	1	298	1	0	0	0	0	0	0	0	1	4800	1219	43	3		3	DUOX1	15	45433155	Silent	SNP	G	TCGA-KC-A4BV-01A-31D-A26M-08	2993315	45433155	57098237	26	14267											
MYO9A	4649	broad.mit.edu	37	chr15	72244228	72244228	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaattgcacatggcgctgtaTcatcatgtccttaggaagca	12	11	9	9	1	2	0	2	0	0	0	3	1	3	1	1	2	2	4	1	2	4	3			TCGA-KC-A4BV-01A-31D-A26M-08	TCGA-KC-A4BV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f61d1174-470f-4318-9bd9-defe72f8afd2	8329fc61-dda7-4b68-8988-2f6c1214cc2c	g.chr15:72244228T>C	ENST00000356056.5	-	15	2664	c.2192A>G	c.(2191-2193)gAt>gGt	p.D731G	MYO9A_ENST00000566885.1_Missense_Mutation_p.D326G|MYO9A_ENST00000424560.1_Missense_Mutation_p.D731G|MYO9A_ENST00000563542.1_5'UTR|MYO9A_ENST00000444904.1_Missense_Mutation_p.D712G|MYO9A_ENST00000564571.1_Missense_Mutation_p.D731G	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN	myosin IXA	731	Myosin motor.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|visual perception (GO:0007601)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|unconventional myosin complex (GO:0016461)	ATP binding (GO:0005524)|GTPase activator activity (GO:0005096)|metal ion binding (GO:0046872)|motor activity (GO:0003774)			NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						TGGCGCTGTATCATCATGTCC	0.378																																						ENST00000356056.5																			0				NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						c.(2191-2193)gAt>gGt		myosin IXA							127	123	124					15																	72244228		2199	4297	6496	SO:0001583	missense	4649				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception	cytosol|integral to membrane|unconventional myosin complex	actin binding|ATP binding|GTPase activator activity|metal ion binding|motor activity	g.chr15:72244228T>C	AF117888	CCDS10239.1	15q22-q23	2011-09-27			ENSG00000066933	ENSG00000066933		"Myosins / Myosin superfamily : Class IX"	7608	protein-coding gene	gene with protein product		604875				10409426	Standard	NM_006901		Approved	FLJ11061, FLJ13244, MGC71859	uc002atl.5	B2RTY4	OTTHUMG00000133440	ENST00000356056.5:c.2192A>G	15.37:g.72244228T>C	ENSP00000348349:p.Asp731Gly					MYO9A_ENST00000563542.1_5'UTR|MYO9A_ENST00000424560.1_Missense_Mutation_p.D731G|MYO9A_ENST00000444904.1_Missense_Mutation_p.D712G|MYO9A_ENST00000566885.1_Missense_Mutation_p.D326G|MYO9A_ENST00000564571.1_Missense_Mutation_p.D731G	p.D731G	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN			15	2664	-			731					B0I1T5|C9IYB3|C9JA86|Q14787|Q3YLD7|Q3YLD8|Q6P986|Q9H8T5|Q9NTG2|Q9NUY2|Q9UEP3|Q9UNJ2	Missense_Mutation	SNP	ENST00000356056.5	37	c.2192A>G	CCDS10239.1	.	.	.	.	.	.	.	.	.	.	T	14.93	2.683207	0.47991	.	.	ENSG00000066933	ENST00000356056;ENST00000424560;ENST00000444904;ENST00000261864	D;D;D	0.85258	-1.95;-1.95;-1.96	5.2	5.2	0.72013	Myosin head, motor domain (1);	.	.	.	.	T	0.70842	0.3270	N	0.00926	-1.1	0.46131	D	0.998885	D;B;P	0.57899	0.981;0.099;0.942	P;B;P	0.54924	0.652;0.041;0.764	T	0.72030	-0.4413	9	0.19590	T	0.45	.	9.8357	0.40968	0.0:0.0771:0.0:0.9229	.	712;712;731	B2RTY4-2;B7WP69;B2RTY4	.;.;MYO9A_HUMAN	G	731;731;712;712	ENSP00000348349:D731G;ENSP00000399162:D731G;ENSP00000398250:D712G	ENSP00000261864:D712G	D	-	2	0	MYO9A	70031282	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.650000	0.46665	2.090000	0.63153	0.460000	0.39030	GAT		0.378	MYO9A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257308.1	NM_006901		20	37	0	0	0	1	0	20	37					C	72244228	T	C	72244228	3	2	298	1	0	0	0	0	1	0	0	0	10084	1435	50	4	5566	4	MYO9A	15	72244228	Missense_Mutation	SNP	T	TCGA-KC-A4BV-01A-31D-A26M-08	26811073	72244228	30287164	27	14268											
CREBBP	1387	broad.mit.edu	37	chr16	3778981	3778981	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgctggggaaggggcgcctGctgccactgcccgggaggca	5	5	18	13	2	0	0	0	0	0	0	0	2	0	2	3	6	4	3	3	6	1	0			TCGA-KC-A4BV-01A-31D-A26M-08	TCGA-KC-A4BV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f61d1174-470f-4318-9bd9-defe72f8afd2	8329fc61-dda7-4b68-8988-2f6c1214cc2c	g.chr16:3778981G>C	ENST00000262367.5	-	31	6876	c.6067C>G	c.(6067-6069)Cag>Gag	p.Q2023E	CREBBP_ENST00000382070.3_Missense_Mutation_p.Q1985E	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	2023					cellular lipid metabolic process (GO:0044255)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|embryonic digit morphogenesis (GO:0042733)|gene expression (GO:0010467)|germ-line stem cell maintenance (GO:0030718)|histone acetylation (GO:0016573)|homeostatic process (GO:0042592)|innate immune response (GO:0045087)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein complex assembly (GO:0006461)|regulation of smoothened signaling pathway (GO:0008589)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|response to hypoxia (GO:0001666)|rhythmic process (GO:0048511)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nuclear body (GO:0016604)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|histone acetyltransferase activity (GO:0004402)|MRF binding (GO:0043426)|p53 binding (GO:0002039)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		AGGGGCGCCTGCTGCCACTGC	0.721			"T, N, F, Mis, O"	"MLL, MORF, RUNXBP2"	"ALL, AML, DLBCL, B-NHL "		Rubinstein-Taybi syndrome																															ENST00000262367.5				Dom/Rec	yes		16	16p13.3	1387	"T, N, F, Mis, O"	CREB binding protein (CBP)	yes	Rubinstein-Taybi syndrome	L	"MLL, MORF, RUNXBP2"		"ALL, AML, DLBCL, B-NHL "		0				NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295						c.(6067-6069)Cag>Gag		CREB binding protein							9	11	10					16																	3778981		2177	4280	6457	SO:0001583	missense	1387				cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding	g.chr16:3778981G>C	U85962	CCDS10509.1, CCDS45399.1	16p13.3	2011-07-01	2008-08-01		ENSG00000005339	ENSG00000005339		"Chromatin-modifying enzymes / K-acetyltransferases"	2348	protein-coding gene	gene with protein product		600140	"Rubinstein-Taybi syndrome"	RSTS		8413673	Standard	NM_001079846		Approved	RTS, CBP, KAT3A	uc002cvv.3	Q92793	OTTHUMG00000129431	ENST00000262367.5:c.6067C>G	16.37:g.3778981G>C	ENSP00000262367:p.Gln2023Glu					CREBBP_ENST00000382070.3_Missense_Mutation_p.Q1985E	p.Q2023E	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)	31	6876	-		Ovarian(90;0.0266)	2023					D3DUC9|O00147|Q16376|Q4LE28	Missense_Mutation	SNP	ENST00000262367.5	37	c.6067C>G	CCDS10509.1	.	.	.	.	.	.	.	.	.	.	g	7.402	0.632906	0.14322	.	.	ENSG00000005339	ENST00000262367;ENST00000543883;ENST00000382070;ENST00000323508	D;D	0.83755	-1.76;-1.68	5.11	5.11	0.69529	Nuclear receptor coactivator, CREB-bp-like, interlocking (1);	0.377493	0.25442	N	0.030641	T	0.70544	0.3236	L	0.29908	0.895	0.25304	N	0.989259	B;B	0.19073	0.033;0.033	B;B	0.22880	0.042;0.042	T	0.53563	-0.8421	10	0.13470	T	0.59	-5.7696	8.2776	0.31881	0.0891:0.1593:0.7515:0.0	.	2053;2023	Q4LE28;Q92793	.;CBP_HUMAN	E	2023;2053;1985;558	ENSP00000262367:Q2023E;ENSP00000371502:Q1985E	ENSP00000262367:Q2023E	Q	-	1	0	CREBBP	3718982	0.992000	0.36948	1.000000	0.80357	0.908000	0.53690	2.524000	0.45589	2.387000	0.81309	0.655000	0.94253	CAG		0.721	CREBBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251591.2	NM_004380		5	5	0	0	0	1	0	5	5					C	3778981	G	C	3778981	3	2	298	1	0	0	0	0	1	0	0	0	3861	1328	46	5	1265	5	CREBBP	16	3778981	Missense_Mutation	SNP	G	TCGA-KC-A4BV-01A-31D-A26M-08		3778981	86575772	28	14269											
PDPR	55066	broad.mit.edu	37	chr16	70162938	70162938	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atctcctcaacgtgcacgacCtggtgggggccatgcatgtt	7	10	12	12	2	2	0	1	0	1	0	3	1	2	0	3	3	3	3	3	3	1	1			TCGA-KC-A4BV-01A-31D-A26M-08	TCGA-KC-A4BV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f61d1174-470f-4318-9bd9-defe72f8afd2	8329fc61-dda7-4b68-8988-2f6c1214cc2c	g.chr16:70162938C>A	ENST00000288050.4	+	6	1477	c.520C>A	c.(520-522)Ctg>Atg	p.L174M	PDPR_ENST00000568530.1_Missense_Mutation_p.L174M|PDPR_ENST00000398122.3_Missense_Mutation_p.L74M	NM_017990.3	NP_060460.4	Q8NCN5	PDPR_HUMAN	pyruvate dehydrogenase phosphatase regulatory subunit	174					cellular metabolic process (GO:0044237)|glycine catabolic process (GO:0006546)|pyruvate metabolic process (GO:0006090)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|mitochondrial matrix (GO:0005759)	aminomethyltransferase activity (GO:0004047)|oxidoreductase activity (GO:0016491)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|skin(2)|stomach(3)	33				BRCA - Breast invasive adenocarcinoma(221;0.124)		CGTGCACGACCTGGTGGGGGC	0.552																																						ENST00000288050.4																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|skin(2)|stomach(3)	33						c.(520-522)Ctg>Atg		pyruvate dehydrogenase phosphatase regulatory subunit							239	232	235					16																	70162938		2042	4205	6247	SO:0001583	missense	55066				glycine catabolic process|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	aminomethyltransferase activity|oxidoreductase activity	g.chr16:70162938C>A		CCDS45520.1	16q22.1	2010-08-24			ENSG00000090857	ENSG00000090857			30264	protein-coding gene	gene with protein product						9395502	Standard	NM_017990		Approved	PDP3	uc002eyf.1	Q8NCN5		ENST00000288050.4:c.520C>A	16.37:g.70162938C>A	ENSP00000288050:p.Leu174Met					PDPR_ENST00000398122.3_Missense_Mutation_p.L74M|PDPR_ENST00000568530.1_Missense_Mutation_p.L174M	p.L174M	NM_017990.3	NP_060460.4	Q8NCN5	PDPR_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.124)	6	1477	+			174					A7E298|A8K8Y7|B3KSE1|Q6AI20|Q6AWC9	Missense_Mutation	SNP	ENST00000288050.4	37	c.520C>A	CCDS45520.1	.	.	.	.	.	.	.	.	.	.	C	24.1	4.496231	0.85069	.	.	ENSG00000090857	ENST00000288050;ENST00000398122	D;D	0.82984	-1.67;-1.67	4.5	4.5	0.54988	FAD dependent oxidoreductase (1);	0.000000	0.64402	D	0.000002	D	0.90435	0.7005	M	0.73962	2.25	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.91299	0.5065	10	0.54805	T	0.06	.	16.1775	0.81862	0.0:1.0:0.0:0.0	.	174	Q8NCN5	PDPR_HUMAN	M	174;74	ENSP00000288050:L174M;ENSP00000381190:L74M	ENSP00000288050:L174M	L	+	1	2	PDPR	68720439	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.287000	0.59001	2.042000	0.60477	0.557000	0.71058	CTG		0.552	PDPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434502.1	NM_017990		37	241	1	0	3.09479e-21	1	3.5168e-21	37	241					A	70162938	C	A	70162938	3	1	298	1	0	0	0	0	1	0	0	0	11689	680	24	5	534	5	PDPR	16	70162938	Missense_Mutation	SNP	C	TCGA-KC-A4BV-01A-31D-A26M-08	66383957	70162938	20191815	29	14270											
DNAH9	1770	broad.mit.edu	37	chr17	11687706	11687706	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctcactcagcatctgaagctCggaaacttcccggcgtccct	8	9	8	16	3	3	1	2	1	1	0	6	2	5	2	2	2	3	2	2	2	2	1	rs554551399		TCGA-KC-A4BV-01A-31D-A26M-08	TCGA-KC-A4BV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f61d1174-470f-4318-9bd9-defe72f8afd2	8329fc61-dda7-4b68-8988-2f6c1214cc2c	g.chr17:11687706C>T	ENST00000262442.4	+	41	7979	c.7911C>T	c.(7909-7911)ctC>ctT	p.L2637L	DNAH9_ENST00000454412.2_Silent_p.L2637L	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	2637	AAA 3. {ECO:0000250}.				cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)	p.L2637L(1)		NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		ATCTGAAGCTCGGAAACTTCC	0.557													C|||	1	0.000199681	0	0	5008	,	,		17649	0.001		0	False		,,,				2504	0					ENST00000262442.3																			1	Substitution - coding silent(1)	p.L2637L(1)	large_intestine(1)	NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290						c.(7909-7911)ctC>ctT		dynein, axonemal, heavy chain 9							180	173	175					17																	11687706		2203	4300	6503	SO:0001819	synonymous_variant	1770				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:11687706C>T	U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"Axonemal dyneins"	2953	protein-coding gene	gene with protein product		603330	"dynein, axonemal, heavy polypeptide 17-like", "dynein, axonemal, heavy polypeptide 9"	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.7911C>T	17.37:g.11687706C>T						DNAH9_ENST00000454412.2_Silent_p.L2637L	p.L2637L	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)	41	7979	+		Breast(5;0.0122)|all_epithelial(5;0.131)	2637			AAA 3 (By similarity).		A2VCQ8|O15064|O95494|Q9NQ28	Silent	SNP	ENST00000262442.4	37	c.7911C>T	CCDS11160.1																																																																																				0.557	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2	NM_001372		7	140	0	0	0	1	0	7	140					T	11687706	C	T	11687706	2	4	298	1	0	0	0	0	0	0	0	1	4608	871	31	2		2	DNAH9	17	11687706	Silent	SNP	C	TCGA-KC-A4BV-01A-31D-A26M-08		11687706	69507504	30	14271											
UNC13D	201294	broad.mit.edu	37	chr17	73836336	73836336	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	atgagttggaactggaggtgGcactggcctcggtctgggta	7	10	17	7	1	1	1	0	1	1	0	2	3	1	3	1	7	1	3	1	7	2	2			TCGA-KC-A4BV-01A-31D-A26M-08	TCGA-KC-A4BV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f61d1174-470f-4318-9bd9-defe72f8afd2	8329fc61-dda7-4b68-8988-2f6c1214cc2c	g.chr17:73836336G>A	ENST00000207549.4	-	10	1207	c.828C>T	c.(826-828)tgC>tgT	p.C276C	UNC13D_ENST00000412096.2_Silent_p.C276C|UNC13D_ENST00000587504.1_5'UTR	NM_199242.2	NP_954712.1	Q70J99	UN13D_HUMAN	unc-13 homolog D (C. elegans)	276	Interaction with RAB27A.				defense response to virus (GO:0051607)|germinal center formation (GO:0002467)|granuloma formation (GO:0002432)|natural killer cell degranulation (GO:0043320)|phagocytosis (GO:0006909)|positive regulation of exocytosis (GO:0045921)|regulation of mast cell degranulation (GO:0043304)	endosome (GO:0005768)|exocytic vesicle (GO:0070382)|lysosome (GO:0005764)|membrane (GO:0016020)				central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29			all cancers(21;2.11e-06)|Epithelial(20;2.32e-06)|BRCA - Breast invasive adenocarcinoma(9;0.000618)|LUSC - Lung squamous cell carcinoma(166;0.154)			ACTGGAGGTGGCACTGGCCTC	0.672									Familial Hemophagocytic Lymphohistiocytosis																													ENST00000207549.4																			0				central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(826-828)tgC>tgT		unc-13 homolog D (C. elegans)							59	53	55					17																	73836336		2203	4300	6503	SO:0001819	synonymous_variant	201294	Familial Hemophagocytic Lymphohistiocytosis	Familial Cancer Database	FHLH, FHL, Familial Hemophagocytic Reticulosis, FHR	positive regulation of exocytosis|regulation of mast cell degranulation	exocytic vesicle|late endosome|lysosome|membrane|recycling endosome	protein binding	g.chr17:73836336G>A	AK024474	CCDS11730.1	17q25.3	2014-09-17				ENSG00000092929			23147	protein-coding gene	gene with protein product		608897					Standard	NM_199242		Approved	Munc13-4	uc002jpp.3	Q70J99		ENST00000207549.4:c.828C>T	17.37:g.73836336G>A						UNC13D_ENST00000587504.1_5'UTR|UNC13D_ENST00000412096.2_Silent_p.C276C	p.C276C	NM_199242.2	NP_954712.1	Q70J99	UN13D_HUMAN	all cancers(21;2.11e-06)|Epithelial(20;2.32e-06)|BRCA - Breast invasive adenocarcinoma(9;0.000618)|LUSC - Lung squamous cell carcinoma(166;0.154)		10	1207	-			276			Interaction with RAB27A.		B4DWG9|Q9H7K5	Silent	SNP	ENST00000207549.4	37	c.828C>T	CCDS11730.1																																																																																				0.672	UNC13D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448847.2	XM_113950		11	35	0	0	0	1	0	11	35					A	73836336	G	A	73836336	2	1	298	1	0	0	0	0	0	0	0	1	16984	1195	42	3		3	UNC13D	17	73836336	Silent	SNP	G	TCGA-KC-A4BV-01A-31D-A26M-08	62148630	73836336	7358874	31	14272											
PSG1	5669	broad.mit.edu	37	chr19	43372351	43372351	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatgctttgtagtaatatggCggataaagagcttttgtcct	10	16	10	5	1	0	1	0	0	0	1	1	2	1	2	1	2	2	4	1	2	6	8	rs150536125		TCGA-KC-A4BV-01A-31D-A26M-08	TCGA-KC-A4BV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f61d1174-470f-4318-9bd9-defe72f8afd2	8329fc61-dda7-4b68-8988-2f6c1214cc2c	g.chr19:43372351C>T	ENST00000436291.2	-	5	1261	c.1145G>A	c.(1144-1146)cGc>cAc	p.R382H	PSG1_ENST00000595356.1_Missense_Mutation_p.R382H|PSG1_ENST00000595124.1_Missense_Mutation_p.R289H|PSG1_ENST00000312439.6_Missense_Mutation_p.R382H|PSG1_ENST00000403380.3_Missense_Mutation_p.R289H|PSG1_ENST00000244296.2_Missense_Mutation_p.R382H	NM_001184825.1|NM_001184826.1	NP_001171754.1|NP_001171755.1	P11464	PSG1_HUMAN	pregnancy specific beta-1-glycoprotein 1	382	Ig-like C2-type 3.				female pregnancy (GO:0007565)	extracellular region (GO:0005576)				breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	30		Prostate(69;0.00682)				AGTAATATGGCGGATAAAGAG	0.463																																						ENST00000244296.2																			0				breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	30						c.(1144-1146)cGc>cAc		pregnancy specific beta-1-glycoprotein 1		C	HIS/ARG,HIS/ARG,HIS/ARG	1,4401		0,1,2200	189	196	193		1145,1145,1145	-2.1	0	19	dbSNP_134	193	0,8596		0,0,4298	no	missense,missense,missense	PSG1	NM_001184825.1,NM_001184826.1,NM_006905.2	29,29,29	0,1,6498	TT,TC,CC		0.0,0.0227,0.0077	,,	382/420,382/418,382/427	43372351	1,12997	2201	4298	6499	SO:0001583	missense	0							g.chr19:43372351C>T		CCDS12612.1, CCDS54275.1, CCDS59392.1, CCDS74380.1	19q13.2	2013-01-29			ENSG00000231924	ENSG00000231924		"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	9514	protein-coding gene	gene with protein product		176390		PSBG1			Standard	NM_006905		Approved	PSGGA, CD66f, PBG1		P11464	OTTHUMG00000151123	ENST00000436291.2:c.1145G>A	19.37:g.43372351C>T	ENSP00000413041:p.Arg382His					PSG1_ENST00000595356.1_Missense_Mutation_p.R382H|PSG1_ENST00000436291.2_Missense_Mutation_p.R382H|PSG1_ENST00000595124.1_Missense_Mutation_p.R289H|PSG1_ENST00000403380.3_Missense_Mutation_p.R289H|PSG1_ENST00000312439.6_Missense_Mutation_p.R382H	p.R382H	NM_006905.2	NP_008836.2					5	1282	-		Prostate(69;0.00682)						O75236|P11462|P11463|Q15231|Q15241|Q15243|Q16660|Q6ICR4|Q9P1W5|Q9UQ79	Missense_Mutation	SNP	ENST00000436291.2	37	c.1145G>A	CCDS54275.1	.	.	.	.	.	.	.	.	.	.	N	2.085	-0.409844	0.04799	2.27E-4	0.0	ENSG00000231924	ENST00000436291;ENST00000403380;ENST00000312439;ENST00000244296	T;T;T;T	0.12984	2.63;2.63;2.63;2.63	1.07	-2.14	0.07123	Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.08980	0.0222	N	0.12182	0.205	0.09310	N	1	P;P;P;P;B;D;P	0.54397	0.457;0.901;0.643;0.932;0.007;0.966;0.952	B;P;P;P;B;P;P	0.52793	0.282;0.585;0.623;0.623;0.006;0.627;0.709	T	0.08027	-1.0742	9	0.20046	T	0.44	.	2.8303	0.05497	0.3844:0.2451:0.3705:0.0	.	382;289;382;289;382;289;254	P11464-4;G5E9F7;P11464;Q8NBY8;P11464-3;Q9UPK8;B4DTG5	.;.;PSG1_HUMAN;.;.;.;.	H	382;289;382;382	ENSP00000413041:R382H;ENSP00000385386:R289H;ENSP00000308970:R382H;ENSP00000244296:R382H	ENSP00000244296:R382H	R	-	2	0	PSG1	48064191	0.001000	0.12720	0.002000	0.10522	0.001000	0.01503	-0.445000	0.06845	-2.096000	0.00852	-3.242000	0.00051	CGC		0.463	PSG1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000321426.1			64	103	0	0	0	1	0	64	103					T	43372351	C	T	43372351	3	4	298	1	0	0	0	0	1	0	0	0	12653	768	27	1	175	1	PSG1	19	43372351	Missense_Mutation	SNP	C	TCGA-KC-A4BV-01A-31D-A26M-08		43372351	15756632	32	14273											
SMOX	54498	broad.mit.edu	37	chr20	4155731	4155731	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgtgaatccagtggtgacaGtgcggatgaccctctcagtc	8	11	12	10	1	1	3	1	3	1	0	4	4	2	4	2	2	1	0	2	2	1	1			TCGA-KC-A4BV-01A-31D-A26M-08	TCGA-KC-A4BV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f61d1174-470f-4318-9bd9-defe72f8afd2	8329fc61-dda7-4b68-8988-2f6c1214cc2c	g.chr20:4155731G>T	ENST00000305958.4	+	2	254	c.29G>T	c.(28-30)aGt>aTt	p.S10I	SMOX_ENST00000484515.1_3'UTR|SMOX_ENST00000278795.3_Missense_Mutation_p.S10I|SMOX_ENST00000379460.2_Missense_Mutation_p.S10I|SMOX_ENST00000339123.6_Missense_Mutation_p.S10I|SMOX_ENST00000346595.2_Missense_Mutation_p.S10I	NM_175839.2	NP_787033.1	Q9NWM0	SMOX_HUMAN	spermine oxidase	10					cellular nitrogen compound metabolic process (GO:0034641)|oxidation-reduction process (GO:0055114)|polyamine biosynthetic process (GO:0006596)|polyamine catabolic process (GO:0006598)|polyamine metabolic process (GO:0006595)|small molecule metabolic process (GO:0044281)|spermine catabolic process (GO:0046208)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	N1-acetylspermine:oxygen oxidoreductase (N1-acetylspermidine-forming) activity (GO:0052895)|norspermine:oxygen oxidoreductase activity (GO:0052894)|polyamine oxidase activity (GO:0046592)|spermine:oxygen oxidoreductase (spermidine-forming) activity (GO:0052901)			breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(7)|lung(5)|skin(2)|urinary_tract(1)	26					Spermine(DB00127)	AGTGGTGACAGTGCGGATGAC	0.607																																						ENST00000305958.4																			0				breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(7)|lung(5)|skin(2)|urinary_tract(1)	26						c.(28-30)aGt>aTt		spermine oxidase	Spermine(DB00127)						202	173	183					20																	4155731		2203	4300	6503	SO:0001583	missense	54498				polyamine biosynthetic process|xenobiotic metabolic process	cytosol|nucleus	polyamine oxidase activity	g.chr20:4155731G>T	AK000753	CCDS13075.1, CCDS13076.1, CCDS13077.1, CCDS13078.1, CCDS74702.1	20p13	2003-10-15	2003-10-15	2003-10-15	ENSG00000088826	ENSG00000088826			15862	protein-coding gene	gene with protein product		615854	"chromosome 20 open reading frame 16"	C20orf16		11454677, 12398765	Standard	NM_175839		Approved	FLJ20746, dJ779E11.1, PAO, PAOh1, MGC1010, SMO	uc002wkp.3	Q9NWM0	OTTHUMG00000031777	ENST00000305958.4:c.29G>T	20.37:g.4155731G>T	ENSP00000307252:p.Ser10Ile					SMOX_ENST00000278795.3_Missense_Mutation_p.S10I|SMOX_ENST00000339123.6_Missense_Mutation_p.S10I|SMOX_ENST00000484515.1_3'UTR|SMOX_ENST00000379460.2_Missense_Mutation_p.S10I|SMOX_ENST00000346595.2_Missense_Mutation_p.S10I	p.S10I	NM_175839.1	NP_787033.1	Q9NWM0	SMOX_HUMAN			2	254	+			10					A2A2P5|A2A2P6|A8BE87|D3DVZ4|Q5TE26|Q5TE27|Q6UY28|Q8IX00|Q96LC3|Q96LC4|Q96QT3|Q9BW38|Q9H6H1|Q9NP51|Q9NPY1|Q9NPY2	Missense_Mutation	SNP	ENST00000305958.4	37	c.29G>T	CCDS13075.1	.	.	.	.	.	.	.	.	.	.	G	34	5.310867	0.95629	.	.	ENSG00000088826	ENST00000339123;ENST00000305958;ENST00000278795;ENST00000346595;ENST00000379460	T;T;T;T;T	0.46819	1.43;1.83;1.43;0.86;1.83	5.18	5.18	0.71444	.	0.121843	0.85682	D	0.000000	T	0.55016	0.1894	N	0.24115	0.695	0.58432	D	0.999998	D;D;D;D;D;D	0.76494	0.989;0.999;0.972;0.989;0.983;0.999	P;D;P;P;P;D	0.68943	0.726;0.961;0.693;0.726;0.735;0.961	T	0.58999	-0.7536	10	0.62326	D	0.03	-11.1762	16.5663	0.84599	0.0:0.0:1.0:0.0	.	10;10;10;10;10;10	B4DE63;Q9NWM0-6;Q9NWM0-3;Q9NWM0;Q9NWM0-2;Q9NWM0-4	.;.;.;SMOX_HUMAN;.;.	I	10	ENSP00000344595:S10I;ENSP00000307252:S10I;ENSP00000278795:S10I;ENSP00000341775:S10I;ENSP00000368773:S10I	ENSP00000278795:S10I	S	+	2	0	SMOX	4103731	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.611000	0.98342	2.572000	0.86782	0.650000	0.86243	AGT		0.607	SMOX-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077806.1	NM_175842		38	134	1	0	4.16155e-14	1	4.62394e-14	38	134					T	4155731	G	T	4155731	3	4	298	1	0	0	0	0	1	0	0	0	14803	1029	36	5	31	5	SMOX	20	4155731	Missense_Mutation	SNP	G	TCGA-KC-A4BV-01A-31D-A26M-08		4155731	58869789	33	14274											
ZBP1	81030	broad.mit.edu	37	chr20	56188195	56188195	+	Intron	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ctccccaccgaggtcccctcCctgggctctcttgggtgact	3	10	10	18	1	1	1	0	1	1	0	5	2	4	1	6	3	0	1	6	3	0	1	rs78386672	byFrequency	TCGA-KC-A4BV-01A-31D-A26M-08	TCGA-KC-A4BV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f61d1174-470f-4318-9bd9-defe72f8afd2	8329fc61-dda7-4b68-8988-2f6c1214cc2c	g.chr20:56188195C>T	ENST00000371173.3	-	5	848				ZBP1_ENST00000538947.1_5'Flank|ZBP1_ENST00000340462.4_Intron|ZBP1_ENST00000541799.1_Missense_Mutation_p.G232R|ZBP1_ENST00000343535.4_Intron|ZBP1_ENST00000395822.3_Intron	NM_001160417.1|NM_030776.2	NP_001153889.1|NP_110403.2	Q9H171	ZBP1_HUMAN	Z-DNA binding protein 1						innate immune response (GO:0045087)|positive regulation of type I interferon production (GO:0032481)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	DNA binding (GO:0003677)|double-stranded RNA adenosine deaminase activity (GO:0003726)|left-handed Z-DNA binding (GO:0003692)|RNA binding (GO:0003723)			large_intestine(11)|lung(8)|ovary(4)|prostate(1)|skin(2)|urinary_tract(1)	27	Lung NSC(12;0.000545)|all_lung(29;0.00195)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;7.87e-13)|Epithelial(14;3.26e-09)|all cancers(14;3.62e-08)			AGGTCCCCTCCCTGGGCTCTC	0.592													C|||	39	0.00778754	0.0272	0.0043	5008	,	,		11638	0		0	False		,,,				2504	0					ENST00000541799.1																			0				large_intestine(11)|lung(8)|ovary(4)|prostate(1)|skin(2)|urinary_tract(1)	27						c.(694-696)Gga>Aga		Z-DNA binding protein 1		C	,,ARG/GLY,	104,4302	78.8+/-117.2	3,98,2102	63	58	60		,,694,	-6.3	0	20	dbSNP_132	60	0,8600		0,0,4300	yes	intron,intron,missense,intron	ZBP1	NM_001160417.1,NM_001160418.1,NM_001160419.1,NM_030776.2	,,125,	3,98,6402	TT,TC,CC		0.0,2.3604,0.7996	,,,	,,232/249,	56188195	104,12902	2203	4300	6503	SO:0001627	intron_variant	81030					cytoplasm|nucleus	double-stranded RNA adenosine deaminase activity|left-handed Z-DNA binding|RNA binding	g.chr20:56188195C>T	AJ300575	CCDS13461.1, CCDS54477.1, CCDS54478.1	20q13.31	2009-08-21	2002-07-25	2002-07-26	ENSG00000124256	ENSG00000124256			16176	protein-coding gene	gene with protein product	"DNA-dependent activator of IRFs"	606750	"chromosome 20 open reading frame 183"	C20orf183		11842111	Standard	NM_030776		Approved	dJ718J7.3, DLM1, DLM-1, DAI	uc002xyo.3	Q9H171	OTTHUMG00000032824	ENST00000371173.3:c.670+23G>A	20.37:g.56188195C>T						ZBP1_ENST00000395822.3_Intron|ZBP1_ENST00000340462.4_Intron|ZBP1_ENST00000343535.4_Intron|ZBP1_ENST00000371173.3_Intron	p.G232R	NM_001160419.2	NP_001153891.1	Q9H171	ZBP1_HUMAN	BRCA - Breast invasive adenocarcinoma(13;7.87e-13)|Epithelial(14;3.26e-09)|all cancers(14;3.62e-08)		5	792	-	Lung NSC(12;0.000545)|all_lung(29;0.00195)|Melanoma(10;0.242)		361					A2A2F7|B3KVA1|F5GYT1|Q5JY39|Q9BYW4	Missense_Mutation	SNP	ENST00000371173.3	37	c.694G>A	CCDS13461.1	18	0.008241758241758242	16	0.032520325203252036	2	0.0055248618784530384	0	0.0	0	0.0	C	7.265	0.606053	0.14002	0.023604	0.0	ENSG00000124256	ENST00000541799	T	0.13307	2.6	3.16	-6.33	0.01988	.	.	.	.	.	T	0.02342	0.0072	L	0.38175	1.15	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.35375	-0.9791	9	0.87932	D	0	.	1.119	0.01721	0.2665:0.192:0.3716:0.1699	.	232	F5GYT1	.	R	232	ENSP00000440552:G232R	ENSP00000440552:G232R	G	-	1	0	ZBP1	55621601	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.395000	0.07287	-2.364000	0.00607	-0.379000	0.06801	GGA		0.592	ZBP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079849.1	NM_030776		6	20	0	0	0	1	0	6	20					T	56188195	C	T	56188195	1	4	298	0	1	0	0	0	0	0	0	0	17518	632	22	3		3	ZBP1	20	56188195	Intron	SNP	C	TCGA-KC-A4BV-01A-31D-A26M-08	52032464	56188195	6837325	34	14275											
PCMTD2	55251	broad.mit.edu	37	chr20	62904819	62904819	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtgaagacttggaagaggaaCggagggaagaagaagagaag	18	3	18	2	1	0	6	0	1	0	5	0	11	0	10	0	4	1	0	0	4	7	1			TCGA-KC-A4BV-01A-31D-A26M-08	TCGA-KC-A4BV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f61d1174-470f-4318-9bd9-defe72f8afd2	8329fc61-dda7-4b68-8988-2f6c1214cc2c	g.chr20:62904819C>T	ENST00000308824.6	+	6	1079	c.952C>T	c.(952-954)Cgg>Tgg	p.R318W	PCMTD2_ENST00000266078.7_3'UTR|PCMTD2_ENST00000369758.4_Missense_Mutation_p.R291W|PCMTD2_ENST00000609372.1_Missense_Mutation_p.R168W|PCMTD2_ENST00000299468.7_Intron	NM_018257.2	NP_060727.2	Q9NV79	PCMD2_HUMAN	protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 2	318						cytoplasm (GO:0005737)	protein-L-isoaspartate (D-aspartate) O-methyltransferase activity (GO:0004719)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(9)|upper_aerodigestive_tract(1)	17	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					GGAAGAGGAACGGAGGGAAGA	0.532																																						ENST00000308824.6																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(9)|upper_aerodigestive_tract(1)	17						c.(952-954)Cgg>Tgg		protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 2							83	104	97					20																	62904819		2203	4300	6503	SO:0001583	missense	55251					cytoplasm	protein-L-isoaspartate (D-aspartate) O-methyltransferase activity	g.chr20:62904819C>T	AK001745	CCDS13559.1, CCDS46631.1	20q13.33	2012-10-02	2005-10-06	2005-10-06	ENSG00000203880	ENSG00000203880			15882	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 36"	C20orf36			Standard	NM_018257		Approved	FLJ10883	uc002yil.4	Q9NV79	OTTHUMG00000033029	ENST00000308824.6:c.952C>T	20.37:g.62904819C>T	ENSP00000307854:p.Arg318Trp					PCMTD2_ENST00000299468.7_Intron|PCMTD2_ENST00000369758.3_Missense_Mutation_p.R291W|PCMTD2_ENST00000266078.6_Missense_Mutation_p.R94W	p.R318W	NM_018257.2	NP_060727.2	Q9NV79	PCMD2_HUMAN			6	1079	+	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)		318					E1P5H3|Q8IW60|Q9H4K2	Missense_Mutation	SNP	ENST00000308824.6	37	c.952C>T	CCDS13559.1	.	.	.	.	.	.	.	.	.	.	.	17.10	3.302681	0.60195	.	.	ENSG00000203880	ENST00000369758;ENST00000308824;ENST00000266078	T;T;T	0.48201	0.83;1.44;0.82	5.17	1.79	0.24919	.	0.736337	0.13067	N	0.416403	T	0.30103	0.0754	L	0.43152	1.355	0.09310	N	1	B;D	0.53885	0.0;0.963	B;B	0.37508	0.0;0.252	T	0.38735	-0.9647	10	0.87932	D	0	-2.2709	0.8466	0.01162	0.2357:0.3434:0.2341:0.1869	.	291;318	Q9NV79-2;Q9NV79	.;PCMD2_HUMAN	W	291;318;94	ENSP00000358773:R291W;ENSP00000307854:R318W;ENSP00000266078:R94W	ENSP00000266078:R94W	R	+	1	2	PCMTD2	62375263	0.000000	0.05858	0.005000	0.12908	0.923000	0.55619	0.254000	0.18314	0.533000	0.28675	0.655000	0.94253	CGG		0.532	PCMTD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080301.1	NM_018257		33	54	0	0	0	1	0	33	54					T	62904819	C	T	62904819	3	4	298	1	0	0	0	0	1	0	0	0	11587	527	19	1	970	1	PCMTD2	20	62904819	Missense_Mutation	SNP	C	TCGA-KC-A4BV-01A-31D-A26M-08	6716624	62904819	120701	35	14276											
TBC1D10A	83874	broad.mit.edu	37	chr22	30688488	30688488	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgagtccttcgggggcacaTgctgtgggggacatgcatct	6	10	15	10	1	1	1	0	1	1	0	3	2	2	2	1	4	2	3	1	4	0	1	rs61730760	byFrequency	TCGA-KC-A4BV-01A-31D-A26M-08	TCGA-KC-A4BV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f61d1174-470f-4318-9bd9-defe72f8afd2	8329fc61-dda7-4b68-8988-2f6c1214cc2c	g.chr22:30688488T>C	ENST00000215790.7	-	9	1567	c.1403A>G	c.(1402-1404)cAt>cGt	p.H468R	GATSL3_ENST00000404953.3_5'Flank|GATSL3_ENST00000407689.3_5'Flank|RP1-130H16.18_ENST00000447976.1_Intron|TBC1D10A_ENST00000403477.3_Missense_Mutation_p.H475R|TBC1D10A_ENST00000403362.1_Missense_Mutation_p.H380R	NM_031937.2	NP_114143.1	Q9BXI6	TB10A_HUMAN	TBC1 domain family, member 10A	468					activation of cysteine-type endopeptidase activity (GO:0097202)|positive regulation of proteolysis (GO:0045862)|retrograde transport, endosome to Golgi (GO:0042147)	extracellular vesicular exosome (GO:0070062)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|PDZ domain binding (GO:0030165)|Rab GTPase activator activity (GO:0005097)			cervix(2)|endometrium(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	23						CGGGGGCACATGCTGTGGGGG	0.637													T|||	9	0.00179712	8e-04	0.0014	5008	,	,		16465	0		0.006	False		,,,				2504	0.001					ENST00000215790.7																			0				cervix(2)|endometrium(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	23						c.(1402-1404)cAt>cGt		TBC1 domain family, member 10A		T	ARG/HIS,ARG/HIS	14,4392	21.2+/-45.6	0,14,2189	78	86	83		1403,1424	-0.3	0.1	22	dbSNP_129	83	105,8495	55.6+/-116.7	0,105,4195	yes	missense,missense	TBC1D10A	NM_031937.2,NM_001204240.1	29,29	0,119,6384	CC,CT,TT		1.2209,0.3177,0.915	benign,benign	468/509,475/516	30688488	119,12887	2203	4300	6503	SO:0001583	missense	83874					intracellular|microvillus	guanyl-nucleotide exchange factor activity|PDZ domain binding|Rab GTPase activator activity	g.chr22:30688488T>C	AF331038	CCDS13874.1, CCDS56227.1	22q12.2	2013-07-09	2005-03-10	2005-03-10	ENSG00000099992	ENSG00000099992			23609	protein-coding gene	gene with protein product	"EBP50-PDZ interactor of 64 kD"	610020	"TBC1 domain family, member 10"	TBC1D10		11285285, 20404108	Standard	NM_001204240		Approved	EPI64, AC004997.C22.2	uc010gvu.3	Q9BXI6	OTTHUMG00000150924	ENST00000215790.7:c.1403A>G	22.37:g.30688488T>C	ENSP00000215790:p.His468Arg					TBC1D10A_ENST00000403362.1_Missense_Mutation_p.H380R|RP1-130H16.18_ENST00000447976.1_Intron|TBC1D10A_ENST00000403477.3_Missense_Mutation_p.H475R	p.H468R	NM_031937.2	NP_114143.1	Q9BXI6	TB10A_HUMAN			9	1567	-			468					B3KXT8|O76053|Q20WK7|Q543A2	Missense_Mutation	SNP	ENST00000215790.7	37	c.1403A>G	CCDS13874.1	6	0.0027472527472527475	0	0.0	0	0.0	0	0.0	6	0.0079155672823219	T	4.829	0.154077	0.09185	0.003177	0.012209	ENSG00000099992	ENST00000215790;ENST00000403477;ENST00000403362	T;T;T	0.04454	3.62;3.62;3.62	4.97	-0.305	0.12784	.	0.762462	0.12004	N	0.508566	T	0.02342	0.0072	N	0.22421	0.69	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.41893	-0.9483	10	0.37606	T	0.19	.	8.4897	0.33093	0.0:0.0814:0.4905:0.4281	.	468;475;468	Q20WK7;B3KXT8;Q9BXI6	.;.;TB10A_HUMAN	R	468;475;380	ENSP00000215790:H468R;ENSP00000384996:H475R;ENSP00000385050:H380R	ENSP00000215790:H468R	H	-	2	0	TBC1D10A	29018488	0.000000	0.05858	0.115000	0.21578	0.270000	0.26580	0.090000	0.15025	-0.011000	0.14247	-0.466000	0.05196	CAT		0.637	TBC1D10A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000320550.1	NM_031937		10	139	0	0	0	1	0	10	139					C	30688488	T	C	30688488	3	2	298	1	0	0	0	0	1	0	0	0	15595	1464	51	4	127	4	TBC1D10A	22	30688488	Missense_Mutation	SNP	T	TCGA-KC-A4BV-01A-31D-A26M-08		30688488	20616078	36	14277											
GRPR	2925	broad.mit.edu	37	chrX	16142274	16142274	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	actttgatcaagatcttctgTacagtcaagtccatgcgaaa	13	12	7	9	1	4	2	2	1	2	1	5	3	5	2	1	0	2	1	1	0	4	3			TCGA-KC-A4BV-01A-31D-A26M-08	TCGA-KC-A4BV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f61d1174-470f-4318-9bd9-defe72f8afd2	8329fc61-dda7-4b68-8988-2f6c1214cc2c	g.chrX:16142274T>C	ENST00000380289.2	+	1	596	c.198T>C	c.(196-198)tgT>tgC	p.C66C		NM_005314.2	NP_005305.1	P30550	GRPR_HUMAN	gastrin-releasing peptide receptor	66					cell proliferation (GO:0008283)|G-protein coupled receptor signaling pathway (GO:0007186)|regulation of cell proliferation (GO:0042127)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	bombesin receptor activity (GO:0004946)|G-protein coupled peptide receptor activity (GO:0008528)			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(3)|stomach(1)|upper_aerodigestive_tract(3)	25	Hepatocellular(33;0.183)					AGATCTTCTGTACAGTCAAGT	0.493											OREG0019682	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000380289.2																			0				central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(3)|stomach(1)|upper_aerodigestive_tract(3)	25						c.(196-198)tgT>tgC		gastrin-releasing peptide receptor							237	194	208					X																	16142274		2203	4300	6503	SO:0001819	synonymous_variant	2925				cell proliferation	integral to plasma membrane	bombesin receptor activity	g.chrX:16142274T>C		CCDS14174.1	Xp22.2	2014-02-21			ENSG00000126010	ENSG00000126010		"GPCR / Class A : Bombesin receptors"	4609	protein-coding gene	gene with protein product	"bombesin receptor 2"	305670					Standard	NM_005314		Approved	BB2	uc004cxj.3	P30550	OTTHUMG00000021189	ENST00000380289.2:c.198T>C	X.37:g.16142274T>C			OREG0019682	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	708		p.C66C	NM_005314.2	NP_005305.1	P30550	GRPR_HUMAN			1	596	+	Hepatocellular(33;0.183)		66					B2R910	Silent	SNP	ENST00000380289.2	37	c.198T>C	CCDS14174.1																																																																																				0.493	GRPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055901.1	NM_005314		12	57	0	0	0	1	0	12	57					C	16142274	T	C	16142274	2	2	298	1	0	0	0	0	0	0	0	1	6808	1644	57	4		4	GRPR	23	16142274	Silent	SNP	T	TCGA-KC-A4BV-01A-31D-A26M-08		16142274	139128286	37	14278											
ZMYM3	9203	broad.mit.edu	37	chrX	70462164	70462164	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctcagctgtctgcagcccaaAaaacttagtgttgaagaaca	14	9	8	10	0	2	2	1	1	1	1	2	2	2	2	1	0	5	3	1	0	6	2			TCGA-KC-A4BV-01A-31D-A26M-08	TCGA-KC-A4BV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f61d1174-470f-4318-9bd9-defe72f8afd2	8329fc61-dda7-4b68-8988-2f6c1214cc2c	g.chrX:70462164A>C	ENST00000353904.2	-	23	3845	c.3658T>G	c.(3658-3660)Ttt>Gtt	p.F1220V	ZMYM3_ENST00000489332.1_5'UTR|ZMYM3_ENST00000373988.1_Missense_Mutation_p.F1222V|ZMYM3_ENST00000373998.1_Missense_Mutation_p.F1208V|ZMYM3_ENST00000314425.5_Missense_Mutation_p.F1220V|ZMYM3_ENST00000373984.3_Intron	NM_005096.3	NP_005087.1	Q14202	ZMYM3_HUMAN	zinc finger, MYM-type 3	1220					cytoskeleton organization (GO:0007010)|multicellular organismal development (GO:0007275)|regulation of cell morphogenesis (GO:0022604)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(7)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(17)|ovary(1)|prostate(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(35;0.156)					TGCAGCCCAAAAAACTTAGTG	0.562																																						ENST00000373998.1																			0				breast(1)|central_nervous_system(7)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(17)|ovary(1)|prostate(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						c.(3622-3624)Ttt>Gtt		zinc finger, MYM-type 3							101	65	77					X																	70462164		2203	4300	6503	SO:0001583	missense	9203				multicellular organismal development	nucleus	DNA binding|zinc ion binding	g.chrX:70462164A>C	AB002383	CCDS14409.1, CCDS55443.1, CCDS55444.1	Xq13.1	2013-01-08	2005-12-19	2005-12-19	ENSG00000147130	ENSG00000147130		"Zinc fingers, MYM type"	13054	protein-coding gene	gene with protein product		300061	"zinc finger protein 261"	ZNF261		10486218	Standard	NM_201599		Approved	ZNF198L2, DXS6673E, KIAA0385, MYM	uc004dzh.2	Q14202	OTTHUMG00000021799	ENST00000353904.2:c.3658T>G	X.37:g.70462164A>C	ENSP00000343909:p.Phe1220Val					ZMYM3_ENST00000489332.1_5'UTR|ZMYM3_ENST00000373988.1_Missense_Mutation_p.F1222V|ZMYM3_ENST00000373984.3_Intron|ZMYM3_ENST00000314425.5_Missense_Mutation_p.F1220V|ZMYM3_ENST00000353904.2_Missense_Mutation_p.F1220V	p.F1208V	NM_001171162.1	NP_001164633.1	Q14202	ZMYM3_HUMAN			23	4319	-	Renal(35;0.156)		1220					D3DVV3|O15089|Q96E26	Missense_Mutation	SNP	ENST00000353904.2	37	c.3622T>G	CCDS14409.1	.	.	.	.	.	.	.	.	.	.	a	20.5	4.002284	0.74932	.	.	ENSG00000147130	ENST00000314425;ENST00000373998;ENST00000353904;ENST00000373988	T;T;T;T	0.62105	0.64;0.05;0.64;0.66	4.68	4.68	0.58851	.	0.000000	0.64402	D	0.000001	T	0.75867	0.3908	M	0.66439	2.03	0.46279	D	0.998964	D;D	0.60160	0.984;0.987	D;D	0.71656	0.957;0.974	T	0.79027	-0.1971	10	0.87932	D	0	-9.5028	13.3991	0.60872	1.0:0.0:0.0:0.0	.	1208;1220	Q14202-2;Q14202	.;ZMYM3_HUMAN	V	1220;1208;1220;1222	ENSP00000322845:F1220V;ENSP00000363110:F1208V;ENSP00000343909:F1220V;ENSP00000363100:F1222V	ENSP00000322845:F1220V	F	-	1	0	ZMYM3	70378889	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	5.672000	0.68102	1.735000	0.51646	0.427000	0.28365	TTT		0.562	ZMYM3-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000057154.1	NM_201599		11	6	0	0	0	1	0	11	6					C	70462164	A	C	70462164	3	2	298	1	0	0	0	0	1	0	0	0	17698	14	1	5	466	5	ZMYM3	23	70462164	Missense_Mutation	SNP	A	TCGA-KC-A4BV-01A-31D-A26M-08	54319890	70462164	84808396	38	14279											
KLHL4	56062	broad.mit.edu	37	chrX	86919798	86919798	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gtgattcatggtcaactgtgGcacctctgagtgttcctcga	7	13	11	10	1	3	2	2	2	1	0	5	3	4	2	2	2	1	2	2	2	1	2			TCGA-KC-A4BV-01A-31D-A26M-08	TCGA-KC-A4BV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f61d1174-470f-4318-9bd9-defe72f8afd2	8329fc61-dda7-4b68-8988-2f6c1214cc2c	g.chrX:86919798G>C	ENST00000373119.4	+	10	2105	c.1960G>C	c.(1960-1962)Gca>Cca	p.A654P	KLHL4_ENST00000373114.4_Missense_Mutation_p.A654P	NM_019117.4	NP_061990.2	Q9C0H6	KLHL4_HUMAN	kelch-like family member 4	654						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(29)|ovary(2)|prostate(1)|skin(1)	67						GTCAACTGTGGCACCTCTGAG	0.418																																						ENST00000373119.4																			0				NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(29)|ovary(2)|prostate(1)|skin(1)	67						c.(1960-1962)Gca>Cca		kelch-like family member 4							199	140	160					X																	86919798		2203	4300	6503	SO:0001583	missense	0					cytoplasm|microtubule cytoskeleton|nucleolus	actin binding	g.chrX:86919798G>C	AF284765	CCDS14456.1, CCDS14457.1	Xq21.3	2013-01-30	2013-01-30		ENSG00000102271	ENSG00000102271		"Kelch-like", "BTB/POZ domain containing"	6355	protein-coding gene	gene with protein product		300348	"kelch (Drosophila)-like 4", "kelch-like 4 (Drosophila)"			11401425	Standard	NM_019117		Approved	KIAA1687, DKELCHL, KHL4	uc004efa.2	Q9C0H6	OTTHUMG00000021946	ENST00000373119.4:c.1960G>C	X.37:g.86919798G>C	ENSP00000362211:p.Ala654Pro					KLHL4_ENST00000373114.4_Missense_Mutation_p.A654P	p.A654P	NM_019117.4	NP_061990.2	Q9C0H6	KLHL4_HUMAN			10	2105	+			654					B2RTW2|Q9Y3J5	Missense_Mutation	SNP	ENST00000373119.4	37	c.1960G>C	CCDS14457.1	.	.	.	.	.	.	.	.	.	.	G	14.88	2.666007	0.47677	.	.	ENSG00000102271	ENST00000373119;ENST00000373114	T;T	0.73152	-0.72;-0.72	4.19	2.4	0.29515	Galactose oxidase, beta-propeller (1);	0.115040	0.64402	D	0.000012	T	0.75700	0.3885	L	0.46819	1.47	0.42493	D	0.9929	D;D	0.76494	0.996;0.999	D;D	0.74674	0.984;0.98	T	0.73981	-0.3811	10	0.62326	D	0.03	.	8.7072	0.34363	0.1875:0.0:0.8125:0.0	.	654;654	Q9C0H6;Q9C0H6-2	KLHL4_HUMAN;.	P	654	ENSP00000362211:A654P;ENSP00000362206:A654P	ENSP00000362206:A654P	A	+	1	0	KLHL4	86806454	1.000000	0.71417	0.917000	0.36280	0.638000	0.38207	2.068000	0.41471	0.357000	0.24183	0.506000	0.49869	GCA		0.418	KLHL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057413.1			10	7	0	0	0	1	0	10	7					C	86919798	G	C	86919798	3	2	298	1	0	0	0	0	1	0	0	0	8391	1203	42	5	1998	5	KLHL4	23	86919798	Missense_Mutation	SNP	G	TCGA-KC-A4BV-01A-31D-A26M-08	16457634	86919798	68350762	39	14280											
HNRNPR	10236	broad.mit.edu	37	chr1	23637361	23637361	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcttcctcttactgcataGccatcatcatagccgtagta	9	13	5	14	1	4	0	2	0	2	0	5	0	5	0	4	0	4	3	4	0	5	6			TCGA-KC-A7F3-01A-21D-A33T-08	TCGA-KC-A7F3-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcdd04ee-ff3e-4fa3-8115-4c94b0af9170	45a165ad-d560-4ed7-87ac-056436c3d192	g.chr1:23637361G>C	ENST00000374612.1	-	11	1611	c.1488C>G	c.(1486-1488)ggC>ggG	p.G496G	HNRNPR_ENST00000426846.2_Silent_p.G336G|HNRNPR_ENST00000478691.1_Silent_p.G398G|HNRNPR_ENST00000606561.1_Silent_p.G357G|HNRNPR_ENST00000427764.2_Silent_p.G458G|HNRNPR_ENST00000476660.1_5'UTR|HNRNPR_ENST00000374616.3_Silent_p.G499G|HNRNPR_ENST00000302271.6_Silent_p.G496G	NM_001102398.1|NM_005826.3	NP_001095868.1|NP_005817.1	O43390	HNRPR_HUMAN	heterogeneous nuclear ribonucleoprotein R	496	3 X 11 AA approximate repeats of D-D-Y-Y- G-Y-D-Y-H-D-Y.|RNA-binding RGG-box.				gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00394)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;6.83e-27)|Colorectal(126;6.01e-08)|COAD - Colon adenocarcinoma(152;3.32e-06)|GBM - Glioblastoma multiforme(114;6.69e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|KIRC - Kidney renal clear cell carcinoma(1967;0.00357)|STAD - Stomach adenocarcinoma(196;0.0131)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0875)|LUSC - Lung squamous cell carcinoma(448;0.19)		ttactGCATAGCCATCATCAT	0.498																																						ENST00000478691.1																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(1192-1194)ggC>ggG		heterogeneous nuclear ribonucleoprotein R							109	112	111					1																	23637361		2203	4300	6503	SO:0001819	synonymous_variant	10236					catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|RNA binding	g.chr1:23637361G>C	AF000364	CCDS232.1, CCDS44085.1, CCDS60020.1, CCDS72726.1, CCDS72727.1	1p36.12	2013-02-12		2007-08-16	ENSG00000125944	ENSG00000125944		"RNA binding motif (RRM) containing"	5047	protein-coding gene	gene with protein product		607201		HNRPR		9421497	Standard	XM_005245711		Approved	hnRNP-R	uc001bgp.4	O43390	OTTHUMG00000003224	ENST00000374612.1:c.1488C>G	1.37:g.23637361G>C						HNRNPR_ENST00000427764.2_Silent_p.G458G|HNRNPR_ENST00000426846.2_Silent_p.G336G|HNRNPR_ENST00000606561.1_Silent_p.G357G|HNRNPR_ENST00000374616.3_Silent_p.G499G|HNRNPR_ENST00000302271.6_Silent_p.G496G|HNRNPR_ENST00000476660.1_5'UTR|HNRNPR_ENST00000374612.1_Silent_p.G496G	p.G398G	NM_001102397.1|NM_001102399.1	NP_001095867.1|NP_001095869.1	O43390	HNRPR_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;6.83e-27)|Colorectal(126;6.01e-08)|COAD - Colon adenocarcinoma(152;3.32e-06)|GBM - Glioblastoma multiforme(114;6.69e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|KIRC - Kidney renal clear cell carcinoma(1967;0.00357)|STAD - Stomach adenocarcinoma(196;0.0131)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0875)|LUSC - Lung squamous cell carcinoma(448;0.19)	10	1465	-		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00394)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)	496			RRM 3.		Q2L7G6|Q5TEH1|Q9BV64|S4R3J4	Silent	SNP	ENST00000374612.1	37	c.1194C>G	CCDS232.1																																																																																				0.498	HNRNPR-003	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000008889.1	NM_005826		27	67	0	0	0	1	0	27	67					C	23637361	G	C	23637361	2	2	299	1	0	0	0	0	0	0	0	1	7272	958	34	5		5	HNRNPR	1	23637361	Silent	SNP	G	TCGA-KC-A7F3-01A-21D-A33T-08		23637361	225613260	1	14281											
IL1R2	7850	broad.mit.edu	37	chr2	102632417	102632417	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgccgttcatctcatacccGcaaattttaaccttgtcaac	10	13	4	14	2	3	0	3	0	1	0	4	0	3	0	3	0	4	2	3	0	4	5			TCGA-KC-A7F3-01A-21D-A33T-08	TCGA-KC-A7F3-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcdd04ee-ff3e-4fa3-8115-4c94b0af9170	45a165ad-d560-4ed7-87ac-056436c3d192	g.chr2:102632417G>A	ENST00000332549.3	+	4	646	c.417G>A	c.(415-417)ccG>ccA	p.P139P	IL1R2_ENST00000393414.2_Silent_p.P139P|IL1R2_ENST00000441002.1_Silent_p.P139P	NM_004633.3	NP_004624.1	P27930	IL1R2_HUMAN	interleukin 1 receptor, type II	139	Ig-like C2-type 2.				cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	interleukin-1 receptor activity (GO:0004908)|interleukin-1, Type II, blocking receptor activity (GO:0004910)			breast(3)|endometrium(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|skin(1)	28						TCTCATACCCGCAAATTTTAA	0.413																																					Pancreas(106;189 1628 2302 5133 12295)	ENST00000332549.3																			0				breast(3)|endometrium(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|skin(1)	28						c.(415-417)ccG>ccA		interleukin 1 receptor, type II	Anakinra(DB00026)						89	86	87					2																	102632417		2203	4300	6503	SO:0001819	synonymous_variant	7850				immune response	integral to membrane|plasma membrane	interleukin-1, Type II, blocking receptor activity	g.chr2:102632417G>A	X59770	CCDS2054.1, CCDS58719.1	2q12	2013-01-11			ENSG00000115590	ENSG00000115590		"Interleukins and interleukin receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5994	protein-coding gene	gene with protein product		147811		IL1RB		10191101, 1833184	Standard	NM_004633		Approved	CD121b	uc002tbm.3	P27930	OTTHUMG00000130695	ENST00000332549.3:c.417G>A	2.37:g.102632417G>A						IL1R2_ENST00000393414.2_Silent_p.P139P|IL1R2_ENST00000441002.1_Silent_p.P139P	p.P139P	NM_004633.3	NP_004624.1	P27930	IL1R2_HUMAN			4	646	+			139			Ig-like C2-type 2.		D3DVJ5|Q6LCE6|Q9UE68	Silent	SNP	ENST00000332549.3	37	c.417G>A	CCDS2054.1																																																																																				0.413	IL1R2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253191.1	NM_004633		3	61	0	0	0	1	0	3	61					A	102632417	G	A	102632417	2	1	299	1	0	0	0	0	0	0	0	1	7659	1074	38	1		1	IL1R2	2	102632417	Silent	SNP	G	TCGA-KC-A7F3-01A-21D-A33T-08		102632417	140566956	2	14282											
ZEB2	9839	broad.mit.edu	37	chr2	145157536	145157536	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctagtgccactaaacccgtgTgtagccataagaactttata	13	11	7	10	1	0	1	0	0	0	1	0	1	0	1	3	0	4	1	3	0	8	7			TCGA-KC-A7F3-01A-21D-A33T-08	TCGA-KC-A7F3-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcdd04ee-ff3e-4fa3-8115-4c94b0af9170	45a165ad-d560-4ed7-87ac-056436c3d192	g.chr2:145157536T>C	ENST00000558170.2	-	8	2402	c.1218A>G	c.(1216-1218)acA>acG	p.T406T	ZEB2_ENST00000539609.3_Silent_p.T382T|ZEB2_ENST00000303660.4_Silent_p.T406T|ZEB2_ENST00000409487.3_Silent_p.T406T	NM_014795.3	NP_055610.1	O60315	ZEB2_HUMAN	zinc finger E-box binding homeobox 2	406					cell proliferation in forebrain (GO:0021846)|developmental pigmentation (GO:0048066)|hippocampus development (GO:0021766)|melanocyte migration (GO:0097324)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|neural tube closure (GO:0001843)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of melanin biosynthetic process (GO:0048023)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of melanosome organization (GO:1903056)|somitogenesis (GO:0001756)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|phosphatase regulator activity (GO:0019208)			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(6)|large_intestine(23)|lung(45)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	107				BRCA - Breast invasive adenocarcinoma(221;0.112)		TAAACCCGTGTGTAGCCATAA	0.433																																					Melanoma(33;1235 1264 5755 16332)	ENST00000558170.2																			0				breast(3)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(6)|large_intestine(23)|lung(45)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	107						c.(1216-1218)acA>acG		zinc finger E-box binding homeobox 2							83	87	86					2																	145157536		2203	4300	6503	SO:0001819	synonymous_variant	9839					cytoplasm|nucleolus	phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|SMAD binding|zinc ion binding	g.chr2:145157536T>C	AB011141	CCDS2186.1, CCDS54403.1	2q22.3	2013-01-08	2007-02-15	2007-02-15	ENSG00000169554	ENSG00000169554		"Zinc fingers, C2H2-type", "Homeoboxes / ZF class"	14881	protein-coding gene	gene with protein product	"SMAD interacting protein 1"	605802	"zinc finger homeobox 1b"	ZFHX1B			Standard	NM_014795		Approved	KIAA0569, SIP-1, SIP1	uc002tvu.3	O60315	OTTHUMG00000131834	ENST00000558170.2:c.1218A>G	2.37:g.145157536T>C						ZEB2_ENST00000409487.3_Silent_p.T406T|ZEB2_ENST00000303660.4_Silent_p.T406T|ZEB2_ENST00000539609.3_Silent_p.T382T	p.T406T	NM_014795.3	NP_055610.1	O60315	ZEB2_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.112)	8	2402	-			406					A0JP09|B7Z2P2|F5H814|Q9UED1	Silent	SNP	ENST00000558170.2	37	c.1218A>G	CCDS2186.1																																																																																				0.433	ZEB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254778.5	NM_014795		5	87	0	0	0	1	0	5	87					C	145157536	T	C	145157536	2	2	299	1	0	0	0	0	0	0	0	1	17621	1683	59	4		4	ZEB2	2	145157536	Silent	SNP	T	TCGA-KC-A7F3-01A-21D-A33T-08	42525119	145157536	98041837	3	14283											
FIGN	55137	broad.mit.edu	37	chr2	164466569	164466569	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcctcattcacttgagaggaGagaagcatgtcaatgtcact	12	11	9	9	0	4	2	4	1	0	2	5	5	5	3	1	1	1	1	1	1	2	2			TCGA-KC-A7F3-01A-21D-A33T-08	TCGA-KC-A7F3-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcdd04ee-ff3e-4fa3-8115-4c94b0af9170	45a165ad-d560-4ed7-87ac-056436c3d192	g.chr2:164466569G>C	ENST00000333129.3	-	3	2087	c.1773C>G	c.(1771-1773)ctC>ctG	p.L591L	FIGN_ENST00000409634.1_Intron|FIGN_ENST00000482917.1_5'Flank	NM_018086.2	NP_060556.2	Q5HY92	FIGN_HUMAN	fidgetin	591					mitotic nuclear division (GO:0007067)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nuclear matrix (GO:0016363)	ATP binding (GO:0005524)			breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(1)|prostate(2)|skin(1)	47						CTTGAGAGGAGAGAAGCATGT	0.468																																						ENST00000333129.3																			0				breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(1)|prostate(2)|skin(1)	47						c.(1771-1773)ctC>ctG		fidgetin							68	67	67					2																	164466569		1970	4145	6115	SO:0001819	synonymous_variant	55137					nuclear matrix	ATP binding|nucleoside-triphosphatase activity	g.chr2:164466569G>C	AK001267	CCDS2221.2	2q24	2010-04-21			ENSG00000182263	ENSG00000182263		"ATPases / AAA-type"	13285	protein-coding gene	gene with protein product		605295				11017077	Standard	XM_005246661		Approved		uc002uck.1	Q5HY92	OTTHUMG00000074059	ENST00000333129.3:c.1773C>G	2.37:g.164466569G>C						FIGN_ENST00000409634.1_Intron	p.L591L	NM_018086.2	NP_060556.2	Q5HY92	FIGN_HUMAN			3	2087	-			591					B3KWM0|Q9H6M5|Q9NVZ9	Silent	SNP	ENST00000333129.3	37	c.1773C>G	CCDS2221.2																																																																																				0.468	FIGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157220.2	NM_018086		7	57	0	0	0	1	0	7	57					C	164466569	G	C	164466569	2	2	299	1	0	0	0	0	0	0	0	1	5891	929	33	5		5	FIGN	2	164466569	Silent	SNP	G	TCGA-KC-A7F3-01A-21D-A33T-08	19309033	164466569	78732804	4	14284											
NOSTRIN	115677	broad.mit.edu	37	chr2	169716116	169716116	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acctcaacccagccatccttGtagtaattccatcttcaggt	10	12	5	14	0	3	0	2	0	1	0	5	0	5	0	5	1	2	2	5	1	3	5			TCGA-KC-A7F3-01A-21D-A33T-08	TCGA-KC-A7F3-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcdd04ee-ff3e-4fa3-8115-4c94b0af9170	45a165ad-d560-4ed7-87ac-056436c3d192	g.chr2:169716116G>T	ENST00000317647.7	+	13	1377	c.1148G>T	c.(1147-1149)tGt>tTt	p.C383F	NOSTRIN_ENST00000421711.2_Missense_Mutation_p.C355F|NOSTRIN_ENST00000444448.2_Missense_Mutation_p.C440F|NOSTRIN_ENST00000445023.2_Missense_Mutation_p.C305F|NOSTRIN_ENST00000397209.2_Missense_Mutation_p.C355F|NOSTRIN_ENST00000397206.2_Missense_Mutation_p.C305F|NOSTRIN_ENST00000458381.2_Missense_Mutation_p.C440F	NM_001039724.3	NP_001034813.2	Q8IVI9	NOSTN_HUMAN	nitric oxide synthase trafficking	383					endocytosis (GO:0006897)|negative regulation of transcription, DNA-templated (GO:0045892)|nitric oxide metabolic process (GO:0046209)|regulation of nitric-oxide synthase activity (GO:0050999)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytoskeleton (GO:0005856)|endocytic vesicle membrane (GO:0030666)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)			kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	9						AGCCATCCTTGTAGTAATTCC	0.433																																						ENST00000444448.2																			0				kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	9						c.(1318-1320)tGt>tTt		nitric oxide synthase trafficking							136	130	131					2																	169716116		1911	4121	6032	SO:0001583	missense	115677				endocytosis|nitric oxide metabolic process|regulation of nitric-oxide synthase activity	cytoplasmic membrane-bounded vesicle|cytoskeleton|plasma membrane	protein binding	g.chr2:169716116G>T	AJ532842	CCDS42771.1, CCDS42772.1, CCDS54415.1, CCDS54416.1	2q31.1	2013-08-05	2013-08-05		ENSG00000163072	ENSG00000163072			20203	protein-coding gene	gene with protein product		607496	"nitric oxide synthase trafficker"			12446846	Standard	NM_001171631		Approved	MGC20702	uc002ueg.3	Q8IVI9	OTTHUMG00000153990	ENST00000317647.7:c.1148G>T	2.37:g.169716116G>T	ENSP00000318921:p.Cys383Phe					NOSTRIN_ENST00000445023.2_Missense_Mutation_p.C305F|NOSTRIN_ENST00000317647.7_Missense_Mutation_p.C383F|NOSTRIN_ENST00000421711.2_Missense_Mutation_p.C355F|NOSTRIN_ENST00000458381.2_Missense_Mutation_p.C440F|NOSTRIN_ENST00000397209.2_Missense_Mutation_p.C355F|NOSTRIN_ENST00000397206.2_Missense_Mutation_p.C305F	p.C440F			Q8IVI9	NOSTN_HUMAN			16	1795	+			383			SH3.		A8K2I9|B3KSF5|E7EPT9|Q27HG3|Q53S62|Q96CJ9	Missense_Mutation	SNP	ENST00000317647.7	37	c.1319G>T	CCDS42771.1	.	.	.	.	.	.	.	.	.	.	G	7.106	0.574976	0.13623	.	.	ENSG00000163072	ENST00000458381;ENST00000444448;ENST00000317647;ENST00000445023;ENST00000397206;ENST00000397209;ENST00000421711	T;T;T;T;T;T;T	0.35789	1.47;1.47;1.29;1.49;1.49;1.49;1.49	5.3	4.42	0.53409	.	0.272597	0.41605	D	0.000846	T	0.29882	0.0747	L	0.46741	1.465	0.80722	D	1	B;B;P;B;B;B	0.47302	0.032;0.01;0.893;0.006;0.003;0.007	B;B;B;B;B;B	0.42319	0.008;0.003;0.383;0.004;0.001;0.004	T	0.05971	-1.0853	10	0.10377	T	0.69	-1.308	11.9701	0.53060	0.0852:0.0:0.9148:0.0	.	355;305;440;277;383;440	Q8IVI9-2;Q8IVI9-3;B3KSF5;D3DPB9;Q8IVI9;E7EPT9	.;.;.;.;NOSTN_HUMAN;.	F	440;440;383;305;305;355;355	ENSP00000402140:C440F;ENSP00000394051:C440F;ENSP00000318921:C383F;ENSP00000404413:C305F;ENSP00000380390:C305F;ENSP00000380392:C355F;ENSP00000401316:C355F	ENSP00000318921:C383F	C	+	2	0	NOSTRIN	169424362	0.990000	0.36364	0.999000	0.59377	0.836000	0.47400	2.763000	0.47605	1.368000	0.46115	0.655000	0.94253	TGT		0.433	NOSTRIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333356.4	NM_052946		4	98	1	0	0.014758	1	0.015072	4	98					T	169716116	G	T	169716116	3	4	299	1	0	0	0	0	1	0	0	0	10546	1377	48	5	1373	5	NOSTRIN	2	169716116	Missense_Mutation	SNP	G	TCGA-KC-A7F3-01A-21D-A33T-08	5249547	169716116	73483257	5	14285											
NCKAP1	10787	broad.mit.edu	37	chr2	183847593	183847593	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctttggcatgttatctgcAtgacgaagtagccagatgat	10	14	10	7	1	2	3	0	2	2	1	2	4	2	3	1	1	2	4	1	1	3	4			TCGA-KC-A7F3-01A-21D-A33T-08	TCGA-KC-A7F3-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcdd04ee-ff3e-4fa3-8115-4c94b0af9170	45a165ad-d560-4ed7-87ac-056436c3d192	g.chr2:183847593A>G	ENST00000361354.4	-	12	1536	c.1164T>C	c.(1162-1164)caT>caC	p.H388H	NCKAP1_ENST00000360982.2_Silent_p.H394H	NM_013436.3	NP_038464.1	Q9Y2A7	NCKP1_HUMAN	NCK-associated protein 1	388					apical protein localization (GO:0045176)|apoptotic process (GO:0006915)|basal protein localization (GO:0045175)|central nervous system development (GO:0007417)|embryonic body morphogenesis (GO:0010172)|embryonic foregut morphogenesis (GO:0048617)|embryonic heart tube development (GO:0035050)|endoderm development (GO:0007492)|establishment or maintenance of actin cytoskeleton polarity (GO:0030950)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|lamellipodium assembly (GO:0030032)|mesodermal cell migration (GO:0008078)|neural tube closure (GO:0001843)|notochord morphogenesis (GO:0048570)|paraxial mesoderm morphogenesis (GO:0048340)|positive regulation of Arp2/3 complex-mediated actin nucleation (GO:2000601)|positive regulation of lamellipodium assembly (GO:0010592)|protein stabilization (GO:0050821)|Rac protein signal transduction (GO:0016601)|regulation of protein localization (GO:0032880)|somitogenesis (GO:0001756)|zygotic determination of anterior/posterior axis, embryo (GO:0007354)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|SCAR complex (GO:0031209)	protein complex binding (GO:0032403)			breast(3)|cervix(2)|endometrium(3)|kidney(4)|large_intestine(11)|lung(16)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	45			OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)			TGTTATCTGCATGACGAAGTA	0.313																																						ENST00000360982.2																			0				breast(3)|cervix(2)|endometrium(3)|kidney(4)|large_intestine(11)|lung(16)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	45						c.(1180-1182)caT>caC		NCK-associated protein 1							46	46	46					2																	183847593		2203	4300	6503	SO:0001819	synonymous_variant	10787				apoptosis|central nervous system development	integral to membrane|lamellipodium membrane	protein binding	g.chr2:183847593A>G	AB014509	CCDS2287.1, CCDS2288.1	2q32	2009-08-14			ENSG00000061676	ENSG00000061676			7666	protein-coding gene	gene with protein product		604891				10673335, 12181570, 9344857	Standard	NM_013436		Approved	Nap1, HEM2, NAP125	uc002upb.4	Q9Y2A7	OTTHUMG00000132623	ENST00000361354.4:c.1164T>C	2.37:g.183847593A>G						NCKAP1_ENST00000361354.3_Silent_p.H388H	p.H394H	NM_205842.1	NP_995314.1	Q9Y2A7	NCKP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)		13	1940	-			388					O60329|Q53QN5|Q53S94|Q53Y35	Silent	SNP	ENST00000361354.4	37	c.1182T>C	CCDS2287.1																																																																																				0.313	NCKAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255867.2	NM_205842		12	56	0	0	0	1	0	12	56					G	183847593	A	G	183847593	2	3	299	1	0	0	0	0	0	0	0	1	10221	214	8	4		4	NCKAP1	2	183847593	Silent	SNP	A	TCGA-KC-A7F3-01A-21D-A33T-08	14131477	183847593	59351780	6	14286											
BRPF1	7862	broad.mit.edu	37	chr3	9780727	9780727	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gctggacgaggaagtagagtAtgacatggacgaggaggact	13	6	17	5	2	0	2	0	1	0	1	0	9	0	7	0	5	0	3	0	5	3	2			TCGA-KC-A7F3-01A-21D-A33T-08	TCGA-KC-A7F3-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcdd04ee-ff3e-4fa3-8115-4c94b0af9170	45a165ad-d560-4ed7-87ac-056436c3d192	g.chr3:9780727A>G	ENST00000457855.1	+	2	655	c.644A>G	c.(643-645)tAt>tGt	p.Y215C	BRPF1_ENST00000302054.3_Missense_Mutation_p.Y215C|BRPF1_ENST00000383829.2_Missense_Mutation_p.Y215C|BRPF1_ENST00000433861.2_Missense_Mutation_p.Y215C|BRPF1_ENST00000424362.1_Missense_Mutation_p.Y215C			P55201	BRPF1_HUMAN	bromodomain and PHD finger containing, 1	215	Interaction with KAT6A and KAT6B.				chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	49	Medulloblastoma(99;0.227)					GAAGTAGAGTATGACATGGAC	0.498																																						ENST00000383829.2																			0				central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	49						c.(643-645)tAt>tGt		bromodomain and PHD finger containing, 1							124	117	119					3																	9780727		2203	4300	6503	SO:0001583	missense	7862				histone H3 acetylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|MOZ/MORF histone acetyltransferase complex|plasma membrane	DNA binding|zinc ion binding	g.chr3:9780727A>G	M91585	CCDS2575.1, CCDS33692.1	3p26-p25	2008-07-18			ENSG00000156983	ENSG00000156983			14255	protein-coding gene	gene with protein product	"peregrin", "bromodomain-containing protein, 140kD"	602410				8946209, 7906940	Standard	NM_001003694		Approved	BR140	uc003bsf.3	P55201	OTTHUMG00000097033	ENST00000457855.1:c.644A>G	3.37:g.9780727A>G	ENSP00000410210:p.Tyr215Cys					BRPF1_ENST00000457855.1_Missense_Mutation_p.Y215C|BRPF1_ENST00000302054.3_Missense_Mutation_p.Y215C|BRPF1_ENST00000424362.1_Missense_Mutation_p.Y215C|BRPF1_ENST00000433861.2_Missense_Mutation_p.Y215C	p.Y215C	NM_001003694.1	NP_001003694.1	P55201	BRPF1_HUMAN			3	1048	+	Medulloblastoma(99;0.227)		215			Interaction with MYST3 and MYST4.		B4DEZ6|Q7Z6E0|Q8TCM6|Q9UHI0	Missense_Mutation	SNP	ENST00000457855.1	37	c.644A>G	CCDS2575.1	.	.	.	.	.	.	.	.	.	.	A	14.49	2.551681	0.45487	.	.	ENSG00000156983	ENST00000433861;ENST00000424362;ENST00000383829;ENST00000302054;ENST00000457855	D;D;D;D;D	0.82255	-1.59;-1.59;-1.59;-1.59;-1.59	5.54	5.54	0.83059	Enhancer of polycomb-like, N-terminal (1);	0.107851	0.64402	D	0.000003	D	0.92355	0.7574	M	0.88512	2.96	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	D	0.93679	0.6997	10	0.87932	D	0	.	15.8465	0.78895	1.0:0.0:0.0:0.0	.	215;215;215;215	P55201-4;P55201-3;P55201-2;P55201	.;.;.;BRPF1_HUMAN	C	215	ENSP00000402485:Y215C;ENSP00000398863:Y215C;ENSP00000373340:Y215C;ENSP00000306297:Y215C;ENSP00000410210:Y215C	ENSP00000306297:Y215C	Y	+	2	0	BRPF1	9755727	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	8.761000	0.91691	2.326000	0.78906	0.533000	0.62120	TAT		0.498	BRPF1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000338485.1	NM_001003694		8	43	0	0	0	1	0	8	43					G	9780727	A	G	9780727	3	3	299	1	0	0	0	0	1	0	0	0	1520	449	16	4	650	4	BRPF1	3	9780727	Missense_Mutation	SNP	A	TCGA-KC-A7F3-01A-21D-A33T-08		9780727	188241703	7	14287											
RPL15	6138	broad.mit.edu	37	chr3	23960791	23960791	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gttatcctcattgatccattCcataaagctatcagaagaaa	15	12	5	9	0	2	3	2	1	0	2	5	3	5	3	3	0	1	2	3	0	6	5			TCGA-KC-A7F3-01A-21D-A33T-08	TCGA-KC-A7F3-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcdd04ee-ff3e-4fa3-8115-4c94b0af9170	45a165ad-d560-4ed7-87ac-056436c3d192	g.chr3:23960791C>T	ENST00000307839.5	+	4	1053	c.414C>T	c.(412-414)ttC>ttT	p.F138F	NKIRAS1_ENST00000443659.2_5'Flank|NKIRAS1_ENST00000421515.2_Intron|NKIRAS1_ENST00000388759.3_5'Flank|NKIRAS1_ENST00000416026.2_5'Flank|NKIRAS1_ENST00000437230.1_5'Flank|NKIRAS1_ENST00000415901.2_5'Flank|RPL15_ENST00000456530.2_Intron|NKIRAS1_ENST00000425478.2_5'Flank|RPL15_ENST00000435882.1_Silent_p.F138F|RPL15_ENST00000415719.1_Silent_p.F138F|RPL15_ENST00000354811.5_Silent_p.F138F|NKIRAS1_ENST00000412028.1_5'Flank|RPL15_ENST00000413699.1_Silent_p.F138F	NM_001253379.1|NM_001253380.1|NM_002948.3	NP_001240308.1|NP_001240309.1|NP_002939.2	P61313	RL15_HUMAN	ribosomal protein L15	138					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)	7						TTGATCCATTCCATAAAGCTA	0.493																																						ENST00000307839.5																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)	7						c.(412-414)ttC>ttT		ribosomal protein L15							29	31	30					3																	23960791		2169	4258	6427	SO:0001819	synonymous_variant	6138				endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosol|ribosome	RNA binding|structural constituent of ribosome	g.chr3:23960791C>T	AB007173	CCDS2640.1, CCDS58818.1	3p24.1	2011-04-06			ENSG00000174748	ENSG00000174748		"L ribosomal proteins"	10306	protein-coding gene	gene with protein product		604174				9582194	Standard	NM_002948		Approved	RPL10, RPLY10, RPYL10, EC45, L15	uc003ccp.3	P61313	OTTHUMG00000130485	ENST00000307839.5:c.414C>T	3.37:g.23960791C>T						RPL15_ENST00000413699.1_Silent_p.F138F|RPL15_ENST00000354811.5_Silent_p.F138F|RPL15_ENST00000415719.1_Silent_p.F138F|RPL15_ENST00000435882.1_Silent_p.F138F|RPL15_ENST00000456530.2_Intron|NKIRAS1_ENST00000421515.2_Intron	p.F138F	NM_001253379.1|NM_001253380.1|NM_002948.3	NP_001240308.1|NP_001240309.1|NP_002939.2	P61313	RL15_HUMAN			4	1053	+			138					P39030|P41051|Q5U0C0|Q642I1|Q6IPX6|Q8WYP2|Q96C44|Q9H2E5	Silent	SNP	ENST00000307839.5	37	c.414C>T	CCDS2640.1																																																																																				0.493	RPL15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252885.3	NM_002948		10	48	0	0	0	1	0	10	48					T	23960791	C	T	23960791	2	4	299	1	0	0	0	0	0	0	0	1	13562	854	30	3		3	RPL15	3	23960791	Silent	SNP	C	TCGA-KC-A7F3-01A-21D-A33T-08	14180064	23960791	174061639	8	14288											
DLEC1	30	broad.mit.edu	37	chr3	38163242	38163242	+	IGR	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tctacctgatgaacctgagcGggtgccgaagctactggact	9	9	12	11	2	1	3	0	3	1	0	1	5	1	4	3	2	6	1	3	2	4	2			TCGA-KC-A7F3-01A-21D-A33T-08	TCGA-KC-A7F3-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcdd04ee-ff3e-4fa3-8115-4c94b0af9170	45a165ad-d560-4ed7-87ac-056436c3d192	g.chr3:38163242G>A	ENST00000333167.8	-	0	1785				DLEC1_ENST00000452631.2_Missense_Mutation_p.G1667R|DLEC1_ENST00000346219.3_Missense_Mutation_p.G1664R|ACAA1_ENST00000480865.1_5'Flank|DLEC1_ENST00000308059.6_Missense_Mutation_p.G1664R	NM_001607.3	NP_001598.1	P09110	THIK_HUMAN	acetyl-CoA acyltransferase 1						alpha-linolenic acid metabolic process (GO:0036109)|bile acid metabolic process (GO:0008206)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|small molecule metabolic process (GO:0044281)|unsaturated fatty acid metabolic process (GO:0033559)|very long-chain fatty acid metabolic process (GO:0000038)	intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	acetyl-CoA C-acyltransferase activity (GO:0003988)|palmitoyl-CoA oxidase activity (GO:0016401)			endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)	9				KIRC - Kidney renal clear cell carcinoma(284;0.0523)|Kidney(284;0.0657)		GAACCTGAGCGGGTGCCGAAG	0.617																																						ENST00000308059.6																			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(3)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	51						c.(4990-4992)Ggg>Agg		deleted in lung and esophageal cancer 1							72	77	75					3																	38163242		2053	4196	6249	SO:0001628	intergenic_variant	9940				negative regulation of cell proliferation	cytoplasm		g.chr3:38163242G>A	X14813	CCDS2673.1, CCDS46794.1	3p22.2	2012-05-16	2010-04-30		ENSG00000060971	ENSG00000060971	2.3.1.16		82	protein-coding gene	gene with protein product	"peroxisomal 3-oxoacyl-Coenzyme A thiolase"	604054	"acetyl-Coenzyme A acyltransferase 1"				Standard	NM_001607		Approved		uc003cht.3	P09110	OTTHUMG00000131087		3.37:g.38163242G>A						DLEC1_ENST00000346219.3_Missense_Mutation_p.G1664R|DLEC1_ENST00000452631.2_Missense_Mutation_p.G1667R	p.G1664R			Q9Y238	DLEC1_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)	35	5011	+			1664					G5E935|Q96CA6	Missense_Mutation	SNP	ENST00000333167.8	37	c.4990G>A	CCDS2673.1	.	.	.	.	.	.	.	.	.	.	G	17.04	3.286194	0.59867	.	.	ENSG00000008226	ENST00000308059;ENST00000346219;ENST00000452631	T;T;T	0.05319	3.49;3.46;3.71	4.28	-1.22	0.09494	.	0.289979	0.33235	N	0.005130	T	0.10165	0.0249	L	0.59436	1.845	0.34463	D	0.701967	D;D;D;D;D	0.64830	0.994;0.994;0.993;0.994;0.994	P;P;P;P;P	0.58013	0.831;0.831;0.759;0.831;0.831	T	0.33904	-0.9850	10	0.30078	T	0.28	-9.2687	2.824	0.05480	0.2881:0.1146:0.4806:0.1167	.	1667;1664;1664;1664;1664	F8W6T4;B1B5Y4;B7ZW06;Q9Y238-3;Q9Y238	.;.;.;.;DLEC1_HUMAN	R	1664;1664;1667	ENSP00000308597:G1664R;ENSP00000315914:G1664R;ENSP00000410427:G1667R	ENSP00000308597:G1664R	G	+	1	0	DLEC1	38138246	0.000000	0.05858	0.437000	0.26809	0.943000	0.58893	-1.123000	0.03263	0.054000	0.16065	0.556000	0.70494	GGG		0.617	ACAA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342980.1	NM_001607		10	63	0	0	0	1	0	10	63					A	38163242	G	A	38163242	1	1	299	0	1	0	0	0	0	0	0	0	4552	1116	39	2		2	DLEC1	3	38163242	IGR	SNP	G	TCGA-KC-A7F3-01A-21D-A33T-08	14202451	38163242	159859188	9	14289											
PCDH18	54510	broad.mit.edu	37	chr4	138452902	138452902	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	aaagctgcagatgctctgtgGgtagagtgatcacatcaaac	13	9	11	8	0	3	3	2	1	1	2	3	3	3	3	0	1	4	4	0	1	3	1			TCGA-KC-A7F3-01A-21D-A33T-08	TCGA-KC-A7F3-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcdd04ee-ff3e-4fa3-8115-4c94b0af9170	45a165ad-d560-4ed7-87ac-056436c3d192	g.chr4:138452902G>A	ENST00000344876.4	-	1	727	c.341C>T	c.(340-342)cCc>cTc	p.P114L	PCDH18_ENST00000510305.1_Intron|PCDH18_ENST00000412923.2_Missense_Mutation_p.P114L|PCDH18_ENST00000507846.1_Intron|PCDH18_ENST00000511115.1_Intron	NM_019035.3	NP_061908.1	Q9HCL0	PCD18_HUMAN	protocadherin 18	114	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				brain development (GO:0007420)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					ATGCTCTGTGGGTAGAGTGAT	0.408																																						ENST00000344876.4																			0				NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86						c.(340-342)cCc>cTc		protocadherin 18							128	127	128					4																	138452902		2203	4300	6503	SO:0001583	missense	54510				brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:138452902G>A	AL137471	CCDS34064.1, CCDS75193.1	4q28.3	2010-01-26			ENSG00000189184	ENSG00000189184		"Cadherins / Protocadherins : Non-clustered"	14268	protein-coding gene	gene with protein product		608287				10835267, 11549318	Standard	XM_005263070		Approved	KIAA1562, PCDH68L	uc003ihe.4	Q9HCL0	OTTHUMG00000161348	ENST00000344876.4:c.341C>T	4.37:g.138452902G>A	ENSP00000355082:p.Pro114Leu					PCDH18_ENST00000510305.1_Intron|PCDH18_ENST00000412923.2_Missense_Mutation_p.P114L|PCDH18_ENST00000507846.1_Intron|PCDH18_ENST00000511115.1_Intron	p.P114L	NM_019035.3	NP_061908.1	Q9HCL0	PCD18_HUMAN			1	727	-	all_hematologic(180;0.24)		114			Cadherin 1.		A8K7K3|B7ZKT1|Q52LS2	Missense_Mutation	SNP	ENST00000344876.4	37	c.341C>T	CCDS34064.1	.	.	.	.	.	.	.	.	.	.	G	28.5	4.926154	0.92319	.	.	ENSG00000189184	ENST00000344876;ENST00000412923	T;T	0.36157	1.27;1.27	5.44	5.44	0.79542	Cadherin (3);Cadherin-like (1);	0.000000	0.42964	U	0.000636	T	0.59293	0.2183	L	0.58583	1.82	0.80722	D	1	P;D	0.89917	0.93;1.0	P;D	0.85130	0.64;0.997	T	0.58702	-0.7590	10	0.66056	D	0.02	.	19.454	0.94880	0.0:0.0:1.0:0.0	.	114;114	Q9HCL0-2;Q9HCL0	.;PCD18_HUMAN	L	114	ENSP00000355082:P114L;ENSP00000390688:P114L	ENSP00000355082:P114L	P	-	2	0	PCDH18	138672352	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	9.595000	0.98260	2.831000	0.97527	0.650000	0.86243	CCC		0.408	PCDH18-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364614.1	NM_019035		4	136	0	0	0	1	0	4	136					A	138452902	G	A	138452902	3	1	299	1	0	0	0	0	1	0	0	0	11513	1232	43	3	3082	3	PCDH18	4	138452902	Missense_Mutation	SNP	G	TCGA-KC-A7F3-01A-21D-A33T-08		138452902	52701374	10	14290											
LRBA	987	broad.mit.edu	37	chr4	151773137	151773137	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cattggaaacatccaacttcGcaatcttttgctcagaagaa	14	11	6	10	1	2	2	1	0	1	2	4	3	3	3	1	1	3	2	1	1	5	4			TCGA-KC-A7F3-01A-21D-A33T-08	TCGA-KC-A7F3-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcdd04ee-ff3e-4fa3-8115-4c94b0af9170	45a165ad-d560-4ed7-87ac-056436c3d192	g.chr4:151773137G>A	ENST00000357115.3	-	23	3968	c.3725C>T	c.(3724-3726)gCg>gTg	p.A1242V	LRBA_ENST00000507224.1_Missense_Mutation_p.A1242V|LRBA_ENST00000535741.1_Missense_Mutation_p.A1242V|LRBA_ENST00000510413.1_Missense_Mutation_p.A1242V	NM_006726.4	NP_006717.2	P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and anchor containing	1242						cytoplasmic membrane-bounded vesicle (GO:0016023)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91	all_hematologic(180;0.151)					ATCCAACTTCGCAATCTTTTG	0.453																																						ENST00000535741.1																			0				breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						c.(3724-3726)gCg>gTg		LPS-responsive vesicle trafficking, beach and anchor containing							115	108	110					4																	151773137		2203	4300	6503	SO:0001583	missense	987					endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane	protein binding	g.chr4:151773137G>A	AF216648	CCDS3773.1, CCDS58928.1	4q13	2013-01-10		2001-10-05	ENSG00000198589	ENSG00000198589		"WD repeat domain containing"	1742	protein-coding gene	gene with protein product		606453		CDC4L		1505956, 11254716	Standard	NM_006726		Approved	BGL, LAB300, LBA	uc010ipj.3	P50851	OTTHUMG00000161443	ENST00000357115.3:c.3725C>T	4.37:g.151773137G>A	ENSP00000349629:p.Ala1242Val					LRBA_ENST00000507224.1_Missense_Mutation_p.A1242V|LRBA_ENST00000357115.3_Missense_Mutation_p.A1242V|LRBA_ENST00000510413.1_Missense_Mutation_p.A1242V	p.A1242V			P50851	LRBA_HUMAN			23	4198	-	all_hematologic(180;0.151)		1242					Q4W5J4|Q4W5L6|Q8NFQ0|Q9H2U3|Q9H2U4	Missense_Mutation	SNP	ENST00000357115.3	37	c.3725C>T	CCDS3773.1	.	.	.	.	.	.	.	.	.	.	G	16.27	3.076272	0.55646	.	.	ENSG00000198589	ENST00000535741;ENST00000510413;ENST00000357115;ENST00000507224	T;T;T;T	0.59502	0.7;0.85;0.7;0.26	5.78	4.94	0.65067	.	0.388378	0.24920	N	0.034542	T	0.47097	0.1427	L	0.34521	1.04	0.48341	D	0.999637	B;B	0.21452	0.033;0.056	B;B	0.17433	0.008;0.018	T	0.35450	-0.9788	10	0.28530	T	0.3	.	14.9442	0.71016	0.0684:0.0:0.9316:0.0	.	1242;1242	P50851;P50851-2	LRBA_HUMAN;.	V	1242	ENSP00000446299:A1242V;ENSP00000421552:A1242V;ENSP00000349629:A1242V;ENSP00000422180:A1242V	ENSP00000349629:A1242V	A	-	2	0	LRBA	151992587	1.000000	0.71417	1.000000	0.80357	0.800000	0.45204	7.450000	0.80656	1.590000	0.49995	0.591000	0.81541	GCG		0.453	LRBA-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000364939.1			3	38	0	0	0	1	0	3	38					A	151773137	G	A	151773137	3	1	299	1	0	0	0	0	1	0	0	0	8931	1087	38	1	5010	1	LRBA	4	151773137	Missense_Mutation	SNP	G	TCGA-KC-A7F3-01A-21D-A33T-08	13320235	151773137	39381139	11	14291											
KIAA1712	80817	broad.mit.edu	37	chr4	175225405	175225405	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cctttttttttagattccatCacaacaaagaaagaaaatca	17	13	3	8	0	2	3	2	0	0	3	3	3	3	3	2	0	1	0	2	0	6	6			TCGA-KC-A7F3-01A-21D-A33T-08	TCGA-KC-A7F3-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcdd04ee-ff3e-4fa3-8115-4c94b0af9170	45a165ad-d560-4ed7-87ac-056436c3d192	g.chr4:175225405C>T	ENST00000503780.1	+	6	806	c.392C>T	c.(391-393)tCa>tTa	p.S131L	CEP44_ENST00000457424.2_Missense_Mutation_p.S131L|CEP44_ENST00000296519.4_Missense_Mutation_p.S131L|CEP44_ENST00000426172.1_Missense_Mutation_p.S131L	NM_001040157.2	NP_001035247.1	Q9C0F1	CEP44_HUMAN	centrosomal protein 44kDa	131						centrosome (GO:0005813)|cytoplasm (GO:0005737)|midbody (GO:0030496)|spindle pole (GO:0000922)				endometrium(2)|large_intestine(4)|lung(5)|stomach(1)	12						TAGATTCCATCACAACAAAGA	0.303																																						ENST00000503780.1																			0				endometrium(2)|large_intestine(4)|lung(5)|stomach(1)	12						c.(391-393)tCa>tTa		centrosomal protein 44kDa							54	58	56					4																	175225405		2203	4300	6503	SO:0001583	missense	80817					centrosome|midbody|spindle pole		g.chr4:175225405C>T	AB051499	CCDS34106.1, CCDS47163.1	4q34	2014-02-20	2011-05-06	2011-05-06	ENSG00000164118	ENSG00000164118			29356	protein-coding gene	gene with protein product			"KIAA1712"	KIAA1712		21399614	Standard	NM_001040157		Approved		uc010iro.2	Q9C0F1	OTTHUMG00000160752	ENST00000503780.1:c.392C>T	4.37:g.175225405C>T	ENSP00000423153:p.Ser131Leu					CEP44_ENST00000426172.1_Missense_Mutation_p.S131L|CEP44_ENST00000457424.2_Missense_Mutation_p.S131L|CEP44_ENST00000296519.4_Missense_Mutation_p.S131L	p.S131L	NM_001040157.2	NP_001035247.1	Q9C0F1	CEP44_HUMAN			6	806	+			131					A8K8W9|A8MW11|B3KT53|D3DP42|Q8IXZ4	Missense_Mutation	SNP	ENST00000503780.1	37	c.392C>T	CCDS34106.1	.	.	.	.	.	.	.	.	.	.	C	14.21	2.467015	0.43839	.	.	ENSG00000164118	ENST00000503780;ENST00000457424;ENST00000515299;ENST00000503053;ENST00000426172;ENST00000296519	T;T;T;T;T	0.48836	0.81;0.8;0.85;0.8;0.81	5.01	4.17	0.49024	.	0.654628	0.14643	N	0.307092	T	0.45175	0.1329	L	0.60455	1.87	0.38851	D	0.956284	B;B	0.20550	0.033;0.046	B;B	0.22601	0.04;0.028	T	0.47674	-0.9099	10	0.72032	D	0.01	.	10.0492	0.42205	0.0:0.8378:0.0:0.1622	.	131;131	Q9C0F1-2;Q9C0F1	.;CEP44_HUMAN	L	131	ENSP00000423153:S131L;ENSP00000389427:S131L;ENSP00000421128:S131L;ENSP00000408221:S131L;ENSP00000296519:S131L	ENSP00000296519:S131L	S	+	2	0	CEP44	175461980	0.000000	0.05858	1.000000	0.80357	0.827000	0.46813	0.204000	0.17335	1.229000	0.43630	0.462000	0.41574	TCA		0.303	CEP44-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362109.2	NM_030633		9	51	0	0	0	1	0	9	51					T	175225405	C	T	175225405	3	4	299	1	0	0	0	0	1	0	0	0	8253	838	29	3	406	3	KIAA1712	4	175225405	Missense_Mutation	SNP	C	TCGA-KC-A7F3-01A-21D-A33T-08	23452268	175225405	15928871	12	14292											
ANKHD1	54882	broad.mit.edu	37	chr5	139905804	139905804	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atgtctttagcccaacaaaaGgcagataaaaataaaataaa	22	8	5	6	0	1	1	0	0	1	1	1	1	1	1	1	1	2	1	1	1	11	5			TCGA-KC-A7F3-01A-21D-A33T-08	TCGA-KC-A7F3-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcdd04ee-ff3e-4fa3-8115-4c94b0af9170	45a165ad-d560-4ed7-87ac-056436c3d192	g.chr5:139905804G>A	ENST00000360839.2	+	26	4870	c.4716G>A	c.(4714-4716)aaG>aaA	p.K1572K	ANKHD1_ENST00000297183.6_Silent_p.K1572K|ANKHD1-EIF4EBP3_ENST00000532219.1_Silent_p.K1572K|SNORD45_ENST00000363181.1_RNA|ANKHD1_ENST00000544120.1_5'UTR	NM_017747.2	NP_060217.1	Q8IWZ3	ANKH1_HUMAN	ankyrin repeat and KH domain containing 1	1572						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCCAACAAAAGGCAGATAAAA	0.393																																						ENST00000297183.6																			0				breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2)	60						c.(4714-4716)aaG>aaA		ankyrin repeat and KH domain containing 1							127	147	140					5																	139905804		2203	4300	6503	SO:0001819	synonymous_variant	54882							g.chr5:139905804G>A	AF521882	CCDS4225.1, CCDS43371.1, CCDS43372.1, CCDS75319.1	5q31.3	2013-01-10			ENSG00000131503	ENSG00000131503		"Ankyrin repeat domain containing"	24714	protein-coding gene	gene with protein product		610500				10470851, 11230166, 16098192	Standard	NM_017747		Approved	MASK, FLJ20288, FLJ11979, FLJ10042, FLJ14127, KIAA1085		Q8IWZ3	OTTHUMG00000161610	ENST00000360839.2:c.4716G>A	5.37:g.139905804G>A						ANKHD1-EIF4EBP3_ENST00000532219.1_Silent_p.K1572K|ANKHD1_ENST00000360839.2_Silent_p.K1572K|ANKHD1_ENST00000544120.1_5'UTR	p.K1572K	NM_020690.5	NP_065741.3			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		26	4840	+								A6NH85|Q149P2|Q8IWZ2|Q8WY90|Q96G77|Q96GK0|Q9H2U0|Q9HA95|Q9NWG4|Q9UPR7	Silent	SNP	ENST00000360839.2	37	c.4716G>A	CCDS4225.1	.	.	.	.	.	.	.	.	.	.	G	6.893	0.534210	0.13188	.	.	ENSG00000131503	ENST00000435794;ENST00000432301	.	.	.	5.28	1.39	0.22231	.	.	.	.	.	T	0.57286	0.2043	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.49835	-0.8897	4	.	.	.	.	8.8007	0.34907	0.5571:0.0:0.4429:0.0	.	.	.	.	S	63;23	.	.	G	+	1	0	ANKHD1	139885988	0.998000	0.40836	0.969000	0.41365	0.875000	0.50365	0.508000	0.22692	0.222000	0.20900	0.460000	0.39030	GGC		0.393	ANKHD1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000251672.1	NM_017747		4	190	0	0	0	1	0	4	190					A	139905804	G	A	139905804	2	1	299	1	0	0	0	0	0	0	0	1	628	991	35	3		3	ANKHD1	5	139905804	Silent	SNP	G	TCGA-KC-A7F3-01A-21D-A33T-08		139905804	41009456	13	14293											
TAAR6	319100	broad.mit.edu	37	chr6	132891765	132891765	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gagctgctggtattttgggaGgagtttttgtactttccaca	7	16	12	6	0	0	0	0	0	0	0	1	3	1	2	1	3	3	5	1	3	2	7			TCGA-KC-A7F3-01A-21D-A33T-08	TCGA-KC-A7F3-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcdd04ee-ff3e-4fa3-8115-4c94b0af9170	45a165ad-d560-4ed7-87ac-056436c3d192	g.chr6:132891765G>A	ENST00000275198.1	+	1	305	c.305G>A	c.(304-306)aGg>aAg	p.R102K		NM_175067.1	NP_778237.1	Q96RI8	TAAR6_HUMAN	trace amine associated receptor 6	102					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|trace-amine receptor activity (GO:0001594)			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(19)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	41	Breast(56;0.112)			OV - Ovarian serous cystadenocarcinoma(155;0.006)|GBM - Glioblastoma multiforme(226;0.00792)		TATTTTGGGAGGAGTTTTTGT	0.493																																						ENST00000275198.1																			0				cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(19)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	41						c.(304-306)aGg>aAg		trace amine associated receptor 6							196	179	185					6																	132891765		2203	4300	6503	SO:0001583	missense	319100					plasma membrane	G-protein coupled receptor activity	g.chr6:132891765G>A	AF380192	CCDS5155.1	6q23.1	2012-08-08	2005-02-23	2005-02-24	ENSG00000146383	ENSG00000146383		"GPCR / Class A : Trace amine associated receptors"	20978	protein-coding gene	gene with protein product		608923	"trace amine receptor 4"	TRAR4		11459929, 15718104	Standard	NM_175067		Approved	TA4	uc011eck.2	Q96RI8	OTTHUMG00000015579	ENST00000275198.1:c.305G>A	6.37:g.132891765G>A	ENSP00000275198:p.Arg102Lys						p.R102K	NM_175067.1	NP_778237.1	Q96RI8	TAAR6_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.006)|GBM - Glioblastoma multiforme(226;0.00792)	1	305	+	Breast(56;0.112)		102					Q5VUQ4	Missense_Mutation	SNP	ENST00000275198.1	37	c.305G>A	CCDS5155.1	.	.	.	.	.	.	.	.	.	.	G	12.83	2.056900	0.36277	.	.	ENSG00000146383	ENST00000275198;ENST00000539228	T	0.71934	-0.61	4.99	-9.98	0.00438	GPCR, rhodopsin-like superfamily (1);	1.432870	0.04732	N	0.421276	T	0.30230	0.0758	N	0.17838	0.53	0.09310	N	1	B	0.09022	0.002	B	0.17979	0.02	T	0.47086	-0.9144	10	0.59425	D	0.04	-0.0407	11.9424	0.52909	0.5103:0.4047:0.085:0.0	.	102	Q96RI8	TAAR6_HUMAN	K	102;85	ENSP00000275198:R102K	ENSP00000275198:R102K	R	+	2	0	TAAR6	132933458	0.000000	0.05858	0.000000	0.03702	0.645000	0.38454	-0.671000	0.05250	-2.884000	0.00318	-0.244000	0.11960	AGG		0.493	TAAR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042255.1	NM_175067		23	92	0	0	0	1	0	23	92					A	132891765	G	A	132891765	3	1	299	1	0	0	0	0	1	0	0	0	15489	1000	35	3	307	3	TAAR6	6	132891765	Missense_Mutation	SNP	G	TCGA-KC-A7F3-01A-21D-A33T-08		132891765	38223302	14	14294											
HECA	51696	broad.mit.edu	37	chr6	139487664	139487664	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aaagaagggctacgacctggCcttccgcttctgctcttgcc	7	10	10	14	2	2	1	0	0	2	1	3	2	3	1	4	2	3	3	4	2	3	4			TCGA-KC-A7F3-01A-21D-A33T-08	TCGA-KC-A7F3-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcdd04ee-ff3e-4fa3-8115-4c94b0af9170	45a165ad-d560-4ed7-87ac-056436c3d192	g.chr6:139487664C>T	ENST00000367658.2	+	2	800	c.515C>T	c.(514-516)gCc>gTc	p.A172V	RP1-225E12.2_ENST00000588529.1_RNA|RP1-225E12.3_ENST00000585874.1_RNA|RP1-225E12.2_ENST00000586229.1_RNA|RP1-225E12.2_ENST00000586266.1_RNA|RP1-225E12.2_ENST00000589192.1_RNA|RP1-225E12.2_ENST00000588638.1_RNA|RP1-225E12.2_ENST00000590679.1_RNA|RP1-225E12.2_ENST00000587577.1_RNA|RP1-225E12.2_ENST00000415194.2_RNA	NM_016217.2	NP_057301.1	Q9UBI9	HDC_HUMAN	headcase homolog (Drosophila)	172					respiratory tube development (GO:0030323)	membrane (GO:0016020)				endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)	15				GBM - Glioblastoma multiforme(68;0.000252)|OV - Ovarian serous cystadenocarcinoma(155;0.000387)		TACGACCTGGCCTTCCGCTTC	0.572																																						ENST00000367658.2																			0				endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)	15						c.(514-516)gCc>gTc		headcase homolog (Drosophila)							91	96	95					6																	139487664		2203	4300	6503	SO:0001583	missense	51696				respiratory tube development			g.chr6:139487664C>T	AB033492	CCDS5194.1	6q23-q24	2010-11-25			ENSG00000112406	ENSG00000112406			21041	protein-coding gene	gene with protein product		607977				11696983, 19643820	Standard	NM_016217		Approved	HDCL, hHDC, HDC, dJ225E12.1	uc003qin.3	Q9UBI9	OTTHUMG00000015686	ENST00000367658.2:c.515C>T	6.37:g.139487664C>T	ENSP00000356630:p.Ala172Val					RP1-225E12.2_ENST00000588638.1_RNA|RP1-225E12.2_ENST00000590679.1_RNA|RP1-225E12.2_ENST00000589192.1_RNA|RP1-225E12.2_ENST00000586229.1_RNA|RP1-225E12.2_ENST00000415194.2_RNA|RP1-225E12.2_ENST00000588529.1_RNA|RP1-225E12.2_ENST00000587577.1_RNA|RP1-225E12.2_ENST00000586266.1_RNA|RP1-225E12.3_ENST00000585874.1_RNA	p.A172V	NM_016217.2	NP_057301.1	Q9UBI9	HDC_HUMAN		GBM - Glioblastoma multiforme(68;0.000252)|OV - Ovarian serous cystadenocarcinoma(155;0.000387)	2	800	+			172						Missense_Mutation	SNP	ENST00000367658.2	37	c.515C>T	CCDS5194.1	.	.	.	.	.	.	.	.	.	.	C	19.57	3.853220	0.71719	.	.	ENSG00000112406	ENST00000367658	.	.	.	5.17	5.17	0.71159	.	0.000000	0.85682	D	0.000000	T	0.52805	0.1757	N	0.16708	0.43	0.80722	D	1	D	0.71674	0.998	D	0.66084	0.941	T	0.50792	-0.8786	9	0.31617	T	0.26	.	19.2104	0.93751	0.0:1.0:0.0:0.0	.	172	Q9UBI9	HDC_HUMAN	V	172	.	ENSP00000356630:A172V	A	+	2	0	HECA	139529357	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.186000	0.77722	2.847000	0.97988	0.655000	0.94253	GCC		0.572	HECA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042456.1	NM_016217		22	70	0	0	0	1	0	22	70					T	139487664	C	T	139487664	3	4	299	1	0	0	0	0	1	0	0	0	7038	739	26	3	521	3	HECA	6	139487664	Missense_Mutation	SNP	C	TCGA-KC-A7F3-01A-21D-A33T-08	6595899	139487664	31627403	15	14295											
MLLT4	4301	broad.mit.edu	37	chr6	168352505	168352505	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcattcgggagctgcagcctCagcagcagccccgcacgatc	8	6	11	16	3	2	0	2	0	0	0	4	2	2	1	3	1	6	5	3	1	0	1			TCGA-KC-A7F3-01A-21D-A33T-08	TCGA-KC-A7F3-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcdd04ee-ff3e-4fa3-8115-4c94b0af9170	45a165ad-d560-4ed7-87ac-056436c3d192	g.chr6:168352505C>T	ENST00000447894.2	+	29	4450	c.4450C>T	c.(4450-4452)Cag>Tag	p.Q1484*	MLLT4_ENST00000366806.2_Nonsense_Mutation_p.Q1484*|MLLT4_ENST00000392112.1_Nonsense_Mutation_p.Q1467*|MLLT4_ENST00000351017.4_Nonsense_Mutation_p.Q1491*|MLLT4_ENST00000400822.3_Nonsense_Mutation_p.Q1483*|MLLT4_ENST00000344191.4_Nonsense_Mutation_p.Q1484*|MLLT4_ENST00000392108.3_Nonsense_Mutation_p.Q1484*			P55196	AFAD_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4	1484					adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cell-cell signaling (GO:0007267)|signal transduction (GO:0007165)	apical part of cell (GO:0045177)|cell junction (GO:0030054)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein C-terminus binding (GO:0008022)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65		Breast(66;1.07e-05)|Ovarian(120;0.024)		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)		GCTGCAGCCTCAGCAGCAGCC	0.597			T	MLL	AL																																	ENST00000366806.2				Dom	yes		6	6q27	4301	T	"myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4 (AF6)"			L	MLL		AL		0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65						c.(4450-4452)Cag>Tag		myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4							61	64	63					6																	168352505		2203	4300	6503	SO:0001587	stop_gained	4301				adherens junction organization|cell adhesion|cell junction assembly|cell-cell signaling|signal transduction	adherens junction|cell-cell junction|cytosol|nucleus	protein C-terminus binding	g.chr6:168352505C>T	AB011399	CCDS47517.1, CCDS75553.1	6q27	2008-02-05	2001-11-28		ENSG00000130396	ENSG00000130396			7137	protein-coding gene	gene with protein product		159559	"myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 4"			8242616	Standard	NM_001040000		Approved	AF-6, AF6	uc021zij.1	P55196	OTTHUMG00000016031	ENST00000447894.2:c.4450C>T	6.37:g.168352505C>T	ENSP00000404595:p.Gln1484*					MLLT4_ENST00000351017.4_Nonsense_Mutation_p.Q1491*|MLLT4_ENST00000447894.2_Nonsense_Mutation_p.Q1484*|MLLT4_ENST00000344191.4_Nonsense_Mutation_p.Q1484*|MLLT4_ENST00000400822.3_Nonsense_Mutation_p.Q1483*|MLLT4_ENST00000392108.3_Nonsense_Mutation_p.Q1484*|MLLT4_ENST00000392112.1_Nonsense_Mutation_p.Q1467*	p.Q1484*			P55196	AFAD_HUMAN		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)	30	4592	+		Breast(66;1.07e-05)|Ovarian(120;0.024)	1484					O75087|O75088|O75089|Q59FP0|Q5TIG6|Q5TIG7|Q9NSN7|Q9NU92	Nonsense_Mutation	SNP	ENST00000447894.2	37	c.4450C>T		.	.	.	.	.	.	.	.	.	.	C	46	12.280937	0.99653	.	.	ENSG00000130396	ENST00000344191;ENST00000351017;ENST00000392108;ENST00000366806;ENST00000392112;ENST00000341575;ENST00000400822;ENST00000447894	.	.	.	5.2	5.2	0.72013	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06099	T	0.92	-35.1647	18.7722	0.91896	0.0:1.0:0.0:0.0	.	.	.	.	X	1484;1491;1484;1484;1467;1484;1483;1484	.	ENSP00000345834:Q1484X	Q	+	1	0	MLLT4	168095354	1.000000	0.71417	0.985000	0.45067	0.826000	0.46750	7.262000	0.78410	2.423000	0.82170	0.561000	0.74099	CAG		0.597	MLLT4-013	PUTATIVE	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000372077.1	NM_005936		19	106	0	0	0	1	0	19	106					T	168352505	C	T	168352505	4	4	299	1	0	0	0	0	0	1	0	0	9629	827	29	3	4564	3	MLLT4	6	168352505	Nonsense_Mutation	SNP	C	TCGA-KC-A7F3-01A-21D-A33T-08	28864841	168352505	2762562	16	14296											
RADIL	55698	broad.mit.edu	37	chr7	4874799	4874799	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcgggggctgagaggctgatGctgggcttgctggagggggt	4	9	22	6	1	0	2	0	2	0	1	1	4	0	3	0	7	2	5	0	7	0	1			TCGA-KC-A7F3-01A-21D-A33T-08	TCGA-KC-A7F3-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcdd04ee-ff3e-4fa3-8115-4c94b0af9170	45a165ad-d560-4ed7-87ac-056436c3d192	g.chr7:4874799G>A	ENST00000399583.3	-	4	1042	c.855C>T	c.(853-855)agC>agT	p.S285S	RADIL_ENST00000536091.1_Silent_p.S285S|RADIL_ENST00000538469.1_Silent_p.S45S	NM_018059.4	NP_060529.4	Q96JH8	RADIL_HUMAN	Ras association and DIL domains	285					multicellular organismal development (GO:0007275)|signal transduction (GO:0007165)|substrate adhesion-dependent cell spreading (GO:0034446)	microtubule (GO:0005874)				NS(1)|biliary_tract(2)|breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(22)|pancreas(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;7.41e-15)		AGAGGCTGATGCTGGGCTTGC	0.692																																						ENST00000399583.3																			0				NS(1)|biliary_tract(2)|breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(22)|pancreas(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						c.(853-855)agC>agT		Ras association and DIL domains							18	26	23					7																	4874799		2163	4251	6414	SO:0001819	synonymous_variant	55698				cell adhesion|multicellular organismal development|signal transduction		protein binding	g.chr7:4874799G>A	AB058752	CCDS43544.1	7p22.1	2010-08-27			ENSG00000157927	ENSG00000157927			22226	protein-coding gene	gene with protein product		611491				16051602, 17704304	Standard	NM_018059		Approved	FLJ10324, KIAA1849, RASIP2	uc003snj.1	Q96JH8	OTTHUMG00000151753	ENST00000399583.3:c.855C>T	7.37:g.4874799G>A						RADIL_ENST00000536091.1_Silent_p.S285S|RADIL_ENST00000538469.1_Silent_p.S45S	p.S285S	NM_018059.4	NP_060529.4	Q96JH8	RADIL_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;7.41e-15)	4	1042	-		Ovarian(82;0.0175)	285					A4D1Z5|A5YM49|B7ZL20|Q0VFZ9|Q75LH3|Q9BSP5|Q9H0M6|Q9NW43|Q9NWC4	Silent	SNP	ENST00000399583.3	37	c.855C>T	CCDS43544.1	.	.	.	.	.	.	.	.	.	.	G	13.79	2.343045	0.41498	.	.	ENSG00000157927	ENST00000544486	.	.	.	4.75	3.87	0.44632	.	.	.	.	.	T	0.49915	0.1585	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.31641	-0.9936	5	0.14656	T	0.56	-29.8687	10.4697	0.44629	0.091:0.0:0.909:0.0	.	.	.	.	V	20	.	ENSP00000437686:A20V	A	-	2	0	RADIL	4841325	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	6.090000	0.71397	0.999000	0.39023	0.655000	0.94253	GCA		0.692	RADIL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323769.2	NM_018059		4	15	0	0	0	1	0	4	15					A	4874799	G	A	4874799	2	1	299	1	0	0	0	0	0	0	0	1	12997	1310	46	3		3	RADIL	7	4874799	Silent	SNP	G	TCGA-KC-A7F3-01A-21D-A33T-08		4874799	154263864	17	14297											
FAM188B	84182	broad.mit.edu	37	chr7	30818114	30818114	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgacctcagcataaacaacAgaaatgatcttcgaaaggtt	16	9	7	9	1	2	3	1	2	1	1	3	4	2	3	1	1	3	2	1	1	5	3			TCGA-KC-A7F3-01A-21D-A33T-08	TCGA-KC-A7F3-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcdd04ee-ff3e-4fa3-8115-4c94b0af9170	45a165ad-d560-4ed7-87ac-056436c3d192	g.chr7:30818114A>G	ENST00000265299.6	+	2	207	c.130A>G	c.(130-132)Aga>Gga	p.R44G	INMT-FAM188B_ENST00000458257.1_3'UTR	NM_032222.2	NP_115598.2	Q4G0A6	F188B_HUMAN	family with sequence similarity 188, member B	44										endometrium(1)|large_intestine(5)|lung(19)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CATAAACAACAGAAATGATCT	0.448																																						ENST00000265299.6																			0				endometrium(1)|large_intestine(5)|lung(19)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(130-132)Aga>Gga		family with sequence similarity 188, member B							111	110	111					7																	30818114		1958	4146	6104	SO:0001583	missense	84182							g.chr7:30818114A>G	AK026027	CCDS43565.1	7p14.3	2010-08-17	2009-07-14	2009-07-14	ENSG00000106125	ENSG00000106125			21916	protein-coding gene	gene with protein product			"chromosome 7 open reading frame 67"	C7orf67			Standard	NM_032222		Approved	FLJ22374	uc003tbt.3	Q4G0A6	OTTHUMG00000152800	ENST00000265299.6:c.130A>G	7.37:g.30818114A>G	ENSP00000265299:p.Arg44Gly					INMT-FAM188B_ENST00000458257.1_3'UTR	p.R44G	NM_032222.2	NP_115598.2	Q4G0A6	F188B_HUMAN			2	207	+			44					Q71AZ7|Q9H6D2	Missense_Mutation	SNP	ENST00000265299.6	37	c.130A>G	CCDS43565.1	.	.	.	.	.	.	.	.	.	.	A	18.64	3.666652	0.67814	.	.	ENSG00000106125	ENST00000265299	T	0.31510	1.49	4.43	3.18	0.36537	.	0.000000	0.85682	D	0.000000	T	0.51041	0.1651	M	0.78049	2.395	0.51767	D	0.999939	D	0.89917	1.0	D	0.85130	0.997	T	0.54091	-0.8345	10	0.87932	D	0	-0.3999	7.552	0.27802	0.7815:0.2185:0.0:0.0	.	44	Q4G0A6	F188B_HUMAN	G	44	ENSP00000265299:R44G	ENSP00000265299:R44G	R	+	1	2	FAM188B	30784639	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	3.703000	0.54808	1.998000	0.58463	0.459000	0.35465	AGA		0.448	FAM188B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327962.1	NM_032222		17	61	0	0	0	1	0	17	61					G	30818114	A	G	30818114	3	3	299	1	0	0	0	0	1	0	0	0	5515	180	7	4	136	4	FAM188B	7	30818114	Missense_Mutation	SNP	A	TCGA-KC-A7F3-01A-21D-A33T-08	25943315	30818114	128320549	18	14298											
PAX4	5078	broad.mit.edu	37	chr7	127253123	127253123	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tctcttgccgacgccatttgGctcttctgttggaaaaccag	7	13	9	12	2	3	0	0	0	3	0	4	2	3	1	3	2	2	2	3	2	2	4	rs372751660		TCGA-KC-A7F3-01A-21D-A33T-08	TCGA-KC-A7F3-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcdd04ee-ff3e-4fa3-8115-4c94b0af9170	45a165ad-d560-4ed7-87ac-056436c3d192	g.chr7:127253123G>C	ENST00000341640.2	-	6	849	c.644C>G	c.(643-645)gCc>gGc	p.A215G	PAX4_ENST00000338516.3_Missense_Mutation_p.A223G|PAX4_ENST00000378740.2_Missense_Mutation_p.A215G|PAX4_ENST00000463946.1_Missense_Mutation_p.A213G	NM_006193.2	NP_006184.2	O43316	PAX4_HUMAN	paired box 4	223					cell differentiation (GO:0030154)|circadian rhythm (GO:0007623)|endocrine pancreas development (GO:0031018)|negative regulation of apoptotic process (GO:0043066)|organ morphogenesis (GO:0009887)|positive regulation of cell differentiation (GO:0045597)|response to cAMP (GO:0051591)|response to drug (GO:0042493)|retina development in camera-type eye (GO:0060041)	nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001206)			cervix(1)|kidney(2)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						ACGCCATTTGGCTCTTCTGTT	0.522																																					Ovarian(113;737 1605 7858 27720 34092)	ENST00000341640.2																			0				cervix(1)|kidney(2)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						c.(643-645)gCc>gGc		paired box 4							223	172	189					7																	127253123		2203	4300	6503	SO:0001583	missense	5078				cell differentiation|endocrine pancreas development|organ morphogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:127253123G>C		CCDS5797.1	7q32.1	2011-06-20	2007-07-12		ENSG00000106331	ENSG00000106331		"Paired boxes", "Homeoboxes / PRD class"	8618	protein-coding gene	gene with protein product		167413	"paired box gene 4"				Standard	NM_006193		Approved	MODY9	uc010lld.1	O43316	OTTHUMG00000157562	ENST00000341640.2:c.644C>G	7.37:g.127253123G>C	ENSP00000339906:p.Ala215Gly					PAX4_ENST00000378740.2_Missense_Mutation_p.A215G|PAX4_ENST00000463946.1_Missense_Mutation_p.A213G|PAX4_ENST00000338516.3_Missense_Mutation_p.A223G	p.A215G	NM_006193.2	NP_006184.2	O43316	PAX4_HUMAN			6	849	-			223					O95161|Q6B0H0	Missense_Mutation	SNP	ENST00000341640.2	37	c.644C>G	CCDS5797.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.074077	0.76415	.	.	ENSG00000106331	ENST00000341640;ENST00000338516;ENST00000378740;ENST00000463946	D;D;D	0.97303	-4.33;-4.33;-4.33	4.86	3.05	0.35203	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);Homeobox, conserved site (1);	0.087774	0.42682	D	0.000672	D	0.98346	0.9451	M	0.92784	3.345	0.50313	D	0.999861	P;P;P;D	0.71674	0.843;0.896;0.942;0.998	P;B;P;D	0.65874	0.668;0.386;0.861;0.939	D	0.98025	1.0373	10	0.87932	D	0	.	9.3264	0.37995	0.1798:0.0:0.8202:0.0	.	215;213;223;213	O43316-4;Q1W386;O43316;G3V4Q1	.;.;PAX4_HUMAN;.	G	215;223;223;213	ENSP00000339906:A215G;ENSP00000344297:A223G;ENSP00000451923:A213G	ENSP00000344297:A223G	A	-	2	0	PAX4	127040359	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.450000	0.90340	0.582000	0.29556	0.555000	0.69702	GCC		0.522	PAX4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000349165.1			18	44	0	0	0	1	0	18	44					C	127253123	G	C	127253123	3	2	299	1	0	0	0	0	1	0	0	0	11481	1203	42	5	403	5	PAX4	7	127253123	Missense_Mutation	SNP	G	TCGA-KC-A7F3-01A-21D-A33T-08	96435009	127253123	31885540	19	14299											
VPS28	51160	broad.mit.edu	37	chr8	145649503	145649503	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggtctccatcagctctcgcaGgtcgggctggatctgagaca	7	9	13	12	2	4	1	1	1	3	1	7	3	4	2	1	4	1	3	1	4	0	0			TCGA-KC-A7F3-01A-21D-A33T-08	TCGA-KC-A7F3-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcdd04ee-ff3e-4fa3-8115-4c94b0af9170	45a165ad-d560-4ed7-87ac-056436c3d192	g.chr8:145649503G>A	ENST00000526054.1	-	8	506	c.469C>T	c.(469-471)Ctg>Ttg	p.L157L	VPS28_ENST00000292510.4_Silent_p.L157L|VPS28_ENST00000529182.1_Silent_p.L157L|VPS28_ENST00000377348.2_Silent_p.L157L|VPS28_ENST00000526734.1_5'Flank			Q9UK41	VPS28_HUMAN	vacuolar protein sorting 28 homolog (S. cerevisiae)	157	VPS28 C-terminal. {ECO:0000255|PROSITE- ProRule:PRU00642}.				endosomal transport (GO:0016197)|intracellular transport of virus (GO:0075733)|membrane organization (GO:0061024)|negative regulation of protein ubiquitination (GO:0031397)|protein transport (GO:0015031)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral protein processing (GO:0019082)|virion assembly (GO:0019068)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|endosome membrane (GO:0010008)|ESCRT I complex (GO:0000813)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)				kidney(1)|large_intestine(1)|lung(4)|prostate(1)	7	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;8.67e-41)|all cancers(56;1.1e-35)|BRCA - Breast invasive adenocarcinoma(115;0.035)|Colorectal(110;0.055)			AGCTCTCGCAGGTCGGGCTGG	0.677																																						ENST00000377348.2																			0				kidney(1)|large_intestine(1)|lung(4)|prostate(1)	7						c.(469-471)Ctg>Ttg		vacuolar protein sorting 28 homolog (S. cerevisiae)							51	55	54					8																	145649503		2203	4299	6502	SO:0001819	synonymous_variant	51160				cellular membrane organization|endosome transport|negative regulation of protein ubiquitination|protein transport	cytosol|late endosome membrane|plasma membrane	protein binding	g.chr8:145649503G>A	AF316887	CCDS6425.1, CCDS34967.1	8q24.3	2014-08-12	2006-04-04		ENSG00000160948	ENSG00000160948			18178	protein-coding gene	gene with protein product		611952	"vacuolar protein sorting 28 (yeast)"				Standard	NM_183057		Approved		uc003zct.1	Q9UK41	OTTHUMG00000165209	ENST00000526054.1:c.469C>T	8.37:g.145649503G>A						VPS28_ENST00000292510.4_Silent_p.L157L|VPS28_ENST00000526054.1_Silent_p.L157L|VPS28_ENST00000529182.1_Silent_p.L157L	p.L157L	NM_183057.1	NP_898880.1	Q9UK41	VPS28_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;8.67e-41)|all cancers(56;1.1e-35)|BRCA - Breast invasive adenocarcinoma(115;0.035)|Colorectal(110;0.055)		9	558	-	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		157			VPS28 C-terminal.		Q86VK0	Silent	SNP	ENST00000526054.1	37	c.469C>T	CCDS6425.1																																																																																				0.677	VPS28-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382694.1			3	54	0	0	0	1	0	3	54					A	145649503	G	A	145649503	2	1	299	1	0	0	0	0	0	0	0	1	17196	991	35	3		3	VPS28	8	145649503	Silent	SNP	G	TCGA-KC-A7F3-01A-21D-A33T-08		145649503	714519	20	14300											
FLJ46321	389763	broad.mit.edu	37	chr9	84606322	84606322	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cggaagattgcactgtgactCagtctaaatcaagtctcacc	12	10	8	11	1	4	2	3	1	2	1	5	3	4	3	1	1	1	1	1	1	4	2			TCGA-KC-A7F3-01A-21D-A33T-08	TCGA-KC-A7F3-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcdd04ee-ff3e-4fa3-8115-4c94b0af9170	45a165ad-d560-4ed7-87ac-056436c3d192	g.chr9:84606322C>G	ENST00000344803.2	+	4	984	c.937C>G	c.(937-939)Cag>Gag	p.Q313E		NM_001001670.2	NP_001001670.1	Q6ZQQ2	S31D1_HUMAN	SPATA31 subfamily D, member 1	313					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											CACTGTGACTCAGTCTAAATC	0.478																																						ENST00000344803.2																			0											c.(937-939)Cag>Gag		SPATA31 subfamily D, member 1							236	208	217					9																	84606322		1961	4149	6110	SO:0001583	missense	389763							g.chr9:84606322C>G		CCDS47986.1	9q21.32	2012-10-12	2012-10-12	2012-10-12	ENSG00000214929	ENSG00000214929			37283	protein-coding gene	gene with protein product			"family with sequence similarity 75, member D1"	FAM75D1			Standard	NM_001001670		Approved	FLJ46321	uc004amn.3	Q6ZQQ2	OTTHUMG00000169122	ENST00000344803.2:c.937C>G	9.37:g.84606322C>G	ENSP00000341988:p.Gln313Glu						p.Q313E	NM_001001670.2	NP_001001670.1					4	984	+									Missense_Mutation	SNP	ENST00000344803.2	37	c.937C>G	CCDS47986.1	.	.	.	.	.	.	.	.	.	.	C	7.353	0.623306	0.14193	.	.	ENSG00000214929	ENST00000344803	T	0.05649	3.41	2.25	1.26	0.21427	.	.	.	.	.	T	0.04588	0.0125	N	0.24115	0.695	0.09310	N	1	B	0.20988	0.05	B	0.17722	0.019	T	0.39663	-0.9603	9	0.45353	T	0.12	.	6.5663	0.22513	0.0:0.6966:0.3034:0.0	.	313	Q6ZQQ2	F75D1_HUMAN	E	313	ENSP00000341988:Q313E	ENSP00000341988:Q313E	Q	+	1	0	FAM75D1	83796142	0.000000	0.05858	0.007000	0.13788	0.045000	0.14185	0.238000	0.18004	0.473000	0.27368	0.461000	0.40582	CAG		0.478	SPATA31D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402325.1	NM_001001670		82	169	0	0	0	1	0	82	169					G	84606322	C	G	84606322	3	3	299	1	0	0	0	0	1	0	0	0	5932	827	29	5	951	5	FLJ46321	9	84606322	Missense_Mutation	SNP	C	TCGA-KC-A7F3-01A-21D-A33T-08		84606322	56607109	21	14301											
FAM107B	83641	broad.mit.edu	37	chr10	14563937	14563938	+	Frame_Shift_Ins	INS	-	-	G																															tcttcttctgtgcttcttctINStccttctgctttattacttg																										TCGA-KC-A7F3-01A-21D-A33T-08	TCGA-KC-A7F3-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcdd04ee-ff3e-4fa3-8115-4c94b0af9170	45a165ad-d560-4ed7-87ac-056436c3d192	g.chr10:14563937_14563938insG	ENST00000378470.1	-	3	495_496	c.209_210insC	c.(208-210)gaafs	p.E70fs	FAM107B_ENST00000378462.1_Frame_Shift_Ins_p.E70fs|FAM107B_ENST00000378467.4_Frame_Shift_Ins_p.E70fs|FAM107B_ENST00000378458.2_Frame_Shift_Ins_p.E70fs|FAM107B_ENST00000181796.2_Frame_Shift_Ins_p.E245fs|FAM107B_ENST00000479731.1_Frame_Shift_Ins_p.E70fs|FAM107B_ENST00000478076.1_Frame_Shift_Ins_p.E70fs|FAM107B_ENST00000468747.1_Frame_Shift_Ins_p.E70fs|FAM107B_ENST00000378465.3_Frame_Shift_Ins_p.E70fs|FAM107B_ENST00000496330.1_Frame_Shift_Ins_p.E70fs	NM_001282695.1|NM_001282696.1|NM_001282697.1|NM_001282698.1|NM_001282700.1|NM_001282701.1|NM_001282702.1|NM_001282703.1	NP_001269624.1|NP_001269625.1|NP_001269626.1|NP_001269627.1|NP_001269629.1|NP_001269630.1|NP_001269631.1|NP_001269632.1	Q9H098	F107B_HUMAN	family with sequence similarity 107, member B	70					sensory perception of sound (GO:0007605)					breast(7)|kidney(1)|large_intestine(4)|lung(7)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						GTGCTTCTTCTTCCTTCTGCTT	0.426																																						ENST00000181796.2																			0				breast(7)|kidney(1)|large_intestine(4)|lung(7)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						c.(733-735)ggafs		family with sequence similarity 107, member B																																				SO:0001589	frameshift_variant	83641							g.chr10:14563937_14563938insG	AK127413	CCDS7102.1, CCDS60486.1	10p14	2006-01-17	2006-01-17	2005-11-20	ENSG00000065809	ENSG00000065809			23726	protein-coding gene	gene with protein product			"chromosome 10 open reading frame 45"	C10orf45		11230166	Standard	XM_005252616		Approved	FLJ45505, MGC11034	uc001ina.1	Q9H098	OTTHUMG00000017709	ENST00000378470.1:c.209_210insC	10.37:g.14563937_14563938insG	ENSP00000367731:p.Glu70fs					FAM107B_ENST00000378465.3_Frame_Shift_Ins_p.G70fs|FAM107B_ENST00000378470.1_Frame_Shift_Ins_p.G70fs|FAM107B_ENST00000378467.4_Frame_Shift_Ins_p.G70fs|FAM107B_ENST00000378462.1_Frame_Shift_Ins_p.G70fs|FAM107B_ENST00000468747.1_Frame_Shift_Ins_p.G70fs|FAM107B_ENST00000479731.1_Frame_Shift_Ins_p.G70fs|FAM107B_ENST00000378458.2_Frame_Shift_Ins_p.G70fs|FAM107B_ENST00000478076.1_Frame_Shift_Ins_p.G70fs|FAM107B_ENST00000496330.1_Frame_Shift_Ins_p.G70fs	p.G245fs	NM_031453.2	NP_113641.2	Q9H098	F107B_HUMAN			4	967_968	-			70					A8K1P4|D3DRT2|Q5T9K7|Q5T9K8|Q6ZSI4	Frame_Shift_Ins	INS	ENST00000378470.1	37	c.734_735insC																																																																																					0.426	FAM107B-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000046899.1	NM_031453		25	73						25	73	---	---	---	---	G	14563938	-	G	14563937	7	5	299	1	0	1	1	0	0	0	0	0	5390	1606	56	0	193	0	FAM107B	10	14563937	Frame_Shift_Ins	INS	-	TCGA-KC-A7F3-01A-21D-A33T-08		14563937	120970810	22	14302											
TMEM72	643236	broad.mit.edu	37	chr10	45430339	45430339	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcctgaaggggactaagaaGcccagtgccctccagccccc	10	5	10	16	0	0	2	0	1	0	1	2	3	2	3	6	2	3	0	6	2	3	1			TCGA-KC-A7F3-01A-21D-A33T-08	TCGA-KC-A7F3-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcdd04ee-ff3e-4fa3-8115-4c94b0af9170	45a165ad-d560-4ed7-87ac-056436c3d192	g.chr10:45430339G>T	ENST00000544540.1	+	4	715	c.231G>T	c.(229-231)aaG>aaT	p.K77N	RP11-285G1.9_ENST00000425541.2_lincRNA|TMEM72-AS1_ENST00000450287.2_RNA			A0PK05	TMM72_HUMAN	transmembrane protein 72	195						integral component of membrane (GO:0016021)				breast(2)|kidney(1)|large_intestine(2)|lung(10)	15						GGACTAAGAAGCCCAGTGCCC	0.582																																						ENST00000544540.1																			0				breast(2)|kidney(1)|large_intestine(2)|lung(10)	15						c.(229-231)aaG>aaT		transmembrane protein 72							132	140	138					10																	45430339		1568	3582	5150	SO:0001583	missense	643236					integral to membrane		g.chr10:45430339G>T	AB235418	CCDS41504.1	10q11.21	2008-10-24	2008-08-21	2008-08-21	ENSG00000187783	ENSG00000187783			31658	protein-coding gene	gene with protein product			"chromosome 10 open reading frame 127"	C10orf127			Standard	NM_001123376		Approved	bA285G1.3, KSP37	uc001jbn.2	A0PK05	OTTHUMG00000018067	ENST00000544540.1:c.231G>T	10.37:g.45430339G>T	ENSP00000439911:p.Lys77Asn					TMEM72-AS1_ENST00000450287.2_RNA	p.K77N			A0PK05	TMM72_HUMAN			4	715	+			195					A1L181|Q5T740	Missense_Mutation	SNP	ENST00000544540.1	37	c.231G>T		.	.	.	.	.	.	.	.	.	.	G	5.729	0.318915	0.10845	.	.	ENSG00000187783	ENST00000389583;ENST00000544540	.	.	.	5.28	-0.149	0.13420	.	0.415963	0.23744	N	0.044993	T	0.26412	0.0645	L	0.46157	1.445	0.09310	N	1	B	0.20671	0.047	B	0.22152	0.038	T	0.09952	-1.0651	9	0.23891	T	0.37	-18.9415	1.4868	0.02448	0.3055:0.1324:0.4269:0.1352	.	195	A0PK05	TMM72_HUMAN	N	195;77	.	ENSP00000374234:K195N	K	+	3	2	TMEM72	44750345	0.000000	0.05858	0.027000	0.17364	0.563000	0.35712	-0.398000	0.07259	0.060000	0.16281	0.563000	0.77884	AAG		0.582	TMEM72-201	KNOWN	basic	protein_coding	protein_coding		NM_001123376		5	171	1	0	0.184627	1	0.184627	5	171					T	45430339	G	T	45430339	3	4	299	1	0	0	0	0	1	0	0	0	16198	962	34	5	603	5	TMEM72	10	45430339	Missense_Mutation	SNP	G	TCGA-KC-A7F3-01A-21D-A33T-08	30866402	45430339	90104408	23	14303											
NLRP14	338323	broad.mit.edu	37	chr11	7060028	7060028	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatattatccaggagagaaaGcctggagtgtgtctctcaaa	14	10	10	7	0	2	1	1	0	1	1	4	4	3	3	2	2	1	0	2	2	5	2			TCGA-KC-A7F3-01A-21D-A33T-08	TCGA-KC-A7F3-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcdd04ee-ff3e-4fa3-8115-4c94b0af9170	45a165ad-d560-4ed7-87ac-056436c3d192	g.chr11:7060028G>A	ENST00000299481.4	+	2	557	c.211G>A	c.(211-213)Gcc>Acc	p.A71T		NM_176822.3	NP_789792.1	Q86W24	NAL14_HUMAN	NLR family, pyrin domain containing 14	71	DAPIN. {ECO:0000255|PROSITE- ProRule:PRU00061}.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)		ATP binding (GO:0005524)			breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	21				Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)		AGGAGAGAAAGCCTGGAGTGT	0.483																																						ENST00000299481.4																			0				breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	21						c.(211-213)Gcc>Acc		NLR family, pyrin domain containing 14							54	59	57					11																	7060028		2201	4296	6497	SO:0001583	missense	338323				cell differentiation|multicellular organismal development|spermatogenesis		ATP binding	g.chr11:7060028G>A	BK001107	CCDS7776.1	11p15.4	2006-12-08	2006-12-08	2006-12-08		ENSG00000158077		"Nucleotide-binding domain and leucine rich repeat containing"	22939	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 14"	609665	"NACHT, leucine rich repeat and PYD containing 14"	NALP14		12563287	Standard	NM_176822		Approved	NOD5, GC-LRR, Nalp-iota, PAN8, CLR11.2	uc001mfb.1	Q86W24		ENST00000299481.4:c.211G>A	11.37:g.7060028G>A	ENSP00000299481:p.Ala71Thr						p.A71T	NM_176822.3	NP_789792.1	Q86W24	NAL14_HUMAN		Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)	2	557	+			71			DAPIN.		Q7RTR6	Missense_Mutation	SNP	ENST00000299481.4	37	c.211G>A	CCDS7776.1	.	.	.	.	.	.	.	.	.	.	G	17.47	3.396609	0.62177	.	.	ENSG00000158077	ENST00000299481	T	0.68181	-0.31	4.22	3.31	0.37934	Pyrin (2);DEATH-like (2);	0.300392	0.24254	N	0.040141	T	0.67382	0.2887	M	0.78456	2.415	0.25185	N	0.990175	P	0.41624	0.757	B	0.43728	0.429	T	0.62969	-0.6741	10	0.56958	D	0.05	.	7.893	0.29688	0.1104:0.0:0.8896:0.0	.	71	Q86W24	NAL14_HUMAN	T	71	ENSP00000299481:A71T	ENSP00000299481:A71T	A	+	1	0	NLRP14	7016604	0.924000	0.31332	0.841000	0.33234	0.557000	0.35523	1.950000	0.40323	1.374000	0.46228	0.655000	0.94253	GCC		0.483	NLRP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384551.1	NM_176822		6	34	0	0	0	1	0	6	34					A	7060028	G	A	7060028	3	1	299	1	0	0	0	0	1	0	0	0	10476	971	34	3	213	3	NLRP14	11	7060028	Missense_Mutation	SNP	G	TCGA-KC-A7F3-01A-21D-A33T-08		7060028	127946488	24	14304											
FGF4	2249	broad.mit.edu	37	chr11	69588217	69588217	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttgtagttgttgggaaggaGaatctccttgaacgtgcact	9	13	13	6	1	1	2	0	1	1	1	2	4	1	3	1	2	2	5	1	2	4	5	rs140567674|rs386754668		TCGA-KC-A7F3-01A-21D-A33T-08	TCGA-KC-A7F3-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcdd04ee-ff3e-4fa3-8115-4c94b0af9170	45a165ad-d560-4ed7-87ac-056436c3d192	g.chr11:69588217G>T	ENST00000168712.1	-	3	799	c.481C>A	c.(481-483)Ctc>Atc	p.L161I	FGF4_ENST00000538040.1_5'UTR|AP001888.1_ENST00000602104.1_5'Flank	NM_002007.2	NP_001998.1	P08620	FGF4_HUMAN	fibroblast growth factor 4	161					apoptotic process involved in morphogenesis (GO:0060561)|cartilage condensation (GO:0001502)|cell-cell signaling (GO:0007267)|chondroblast differentiation (GO:0060591)|cranial suture morphogenesis (GO:0060363)|embryonic hindlimb morphogenesis (GO:0035116)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|mesenchymal cell proliferation (GO:0010463)|negative regulation of apoptotic process (GO:0043066)|neurotrophin TRK receptor signaling pathway (GO:0048011)|odontogenesis of dentin-containing tooth (GO:0042475)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|signal transduction (GO:0007165)|stem cell maintenance (GO:0019827)	cytosol (GO:0005829)|extracellular region (GO:0005576)|nucleus (GO:0005634)	growth factor activity (GO:0008083)|heparin binding (GO:0008201)			lung(3)	3	Melanoma(5;1.89e-05)		LUSC - Lung squamous cell carcinoma(11;3.74e-15)|STAD - Stomach adenocarcinoma(18;0.0278)		Pentosan Polysulfate(DB00686)	TTGGGAAGGAGAATCTCCTTG	0.567																																						ENST00000168712.1																			0				lung(3)	3						c.(481-483)Ctc>Atc		fibroblast growth factor 4	Pentosan Polysulfate(DB00686)						241	204	216					11																	69588217		2200	4294	6494	SO:0001583	missense	2249				cell-cell signaling|chondroblast differentiation|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|mesenchymal cell proliferation|positive regulation of cell division|positive regulation of cell proliferation|positive regulation of ERK1 and ERK2 cascade	extracellular region	growth factor activity|heparin binding	g.chr11:69588217G>T	M17446	CCDS8194.1	11q13.3	2014-01-30	2008-08-01		ENSG00000075388	ENSG00000075388		"Endogenous ligands"	3682	protein-coding gene	gene with protein product	"human stomach cancer, transforming factor from FGF-related oncogene", "kaposi sarcoma oncogene", "transforming protein KS3"	164980	"heparin secretory transforming protein 1"	HSTF1		1611909	Standard	NM_002007		Approved	K-FGF, HBGF-4, HST, HST-1, KFGF	uc001opg.1	P08620	OTTHUMG00000167887	ENST00000168712.1:c.481C>A	11.37:g.69588217G>T	ENSP00000168712:p.Leu161Ile					FGF4_ENST00000538040.1_5'UTR	p.L161I	NM_002007.2	NP_001998.1	P08620	FGF4_HUMAN	LUSC - Lung squamous cell carcinoma(11;3.74e-15)|STAD - Stomach adenocarcinoma(18;0.0278)		3	799	-	Melanoma(5;1.89e-05)		161					B7U994	Missense_Mutation	SNP	ENST00000168712.1	37	c.481C>A	CCDS8194.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.069651	0.76301	.	.	ENSG00000075388	ENST00000168712	D	0.81499	-1.5	5.81	3.94	0.45596	.	0.000000	0.38492	N	0.001672	T	0.82268	0.5000	L	0.49455	1.56	0.58432	D	0.999995	P	0.37061	0.58	P	0.50440	0.641	T	0.78206	-0.2294	9	.	.	.	.	12.1333	0.53955	0.138:0.0:0.862:0.0	.	161	P08620	FGF4_HUMAN	I	161	ENSP00000168712:L161I	.	L	-	1	0	FGF4	69297398	1.000000	0.71417	0.008000	0.14137	0.801000	0.45260	7.164000	0.77533	0.799000	0.34018	0.655000	0.94253	CTC		0.567	FGF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396834.2	NM_002007		5	116	1	0	2.0095e-06	1	2.14346e-06	5	116					T	69588217	G	T	69588217	3	4	299	1	0	0	0	0	1	0	0	0	5854	942	33	5	143	5	FGF4	11	69588217	Missense_Mutation	SNP	G	TCGA-KC-A7F3-01A-21D-A33T-08	62528189	69588217	65418299	25	14305											
GPR83	10888	broad.mit.edu	37	chr11	94113908	94113908	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcagctggctcagggaagtCtggcaggcagagggagcgca	9	5	18	9	1	3	1	2	0	1	1	3	3	3	3	0	5	2	5	0	5	1	0			TCGA-KC-A7F3-01A-21D-A33T-08	TCGA-KC-A7F3-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcdd04ee-ff3e-4fa3-8115-4c94b0af9170	45a165ad-d560-4ed7-87ac-056436c3d192	g.chr11:94113908C>A	ENST00000243673.2	-	4	850	c.679G>T	c.(679-681)Gac>Tac	p.D227Y	GPR83_ENST00000539203.2_Missense_Mutation_p.D185Y	NM_016540.3	NP_057624.3	Q9NYM4	GPR83_HUMAN	G protein-coupled receptor 83	227					response to glucocorticoid (GO:0051384)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|neuropeptide Y receptor activity (GO:0004983)			NS(1)|breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)	19		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				TCAGGGAAGTCTGGCAGGCAG	0.567																																						ENST00000243673.2																			0				NS(1)|breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)	19						c.(679-681)Gac>Tac		G protein-coupled receptor 83							70	69	69					11																	94113908		2201	4298	6499	SO:0001583	missense	10888					integral to membrane|plasma membrane	neuropeptide Y receptor activity	g.chr11:94113908C>A	AF236081	CCDS8297.1	11q21	2012-08-21	2003-07-30	2003-08-01	ENSG00000123901	ENSG00000123901		"GPCR / Class A : Orphans"	4523	protein-coding gene	gene with protein product		605569	"G protein-coupled receptor 72"	GPR72		10760605, 11060465	Standard	NM_016540		Approved		uc001pet.2	Q9NYM4	OTTHUMG00000167779	ENST00000243673.2:c.679G>T	11.37:g.94113908C>A	ENSP00000243673:p.Asp227Tyr					GPR83_ENST00000539203.2_Missense_Mutation_p.D185Y	p.D227Y	NM_016540.3	NP_057624.3	Q9NYM4	GPR83_HUMAN			4	850	-		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)	227					B0M0K5|Q6NWR4|Q9P1Y8	Missense_Mutation	SNP	ENST00000243673.2	37	c.679G>T	CCDS8297.1	.	.	.	.	.	.	.	.	.	.	C	18.10	3.548890	0.65311	.	.	ENSG00000123901	ENST00000243673;ENST00000539203	T;T	0.38077	1.16;1.16	5.41	4.44	0.53790	GPCR, rhodopsin-like superfamily (1);	0.050866	0.85682	D	0.000000	T	0.33352	0.0860	L	0.41415	1.275	0.53005	D	0.999963	B	0.25235	0.121	B	0.29942	0.109	T	0.21518	-1.0243	10	0.59425	D	0.04	.	14.3593	0.66761	0.0:0.8512:0.1488:0.0	.	227	Q9NYM4	GPR83_HUMAN	Y	227;185	ENSP00000243673:D227Y;ENSP00000441550:D185Y	ENSP00000243673:D227Y	D	-	1	0	GPR83	93753556	0.916000	0.31088	1.000000	0.80357	0.996000	0.88848	1.868000	0.39509	2.535000	0.85469	0.655000	0.94253	GAC		0.567	GPR83-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396232.1	NM_016540		12	36	1	0	4.93089e-13	1	5.37915e-13	12	36					A	94113908	C	A	94113908	3	1	299	1	0	0	0	0	1	0	0	0	6713	913	32	5	596	5	GPR83	11	94113908	Missense_Mutation	SNP	C	TCGA-KC-A7F3-01A-21D-A33T-08	24525691	94113908	40892608	26	14306											
NLRX1	79671	broad.mit.edu	37	chr11	119045313	119045313	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ccagccgtactgcgggtatgCcgttggcggttcaggtgtct	4	11	15	11	4	2	0	1	0	1	0	2	0	2	0	3	4	4	4	3	4	2	4			TCGA-KC-A7F3-01A-21D-A33T-08	TCGA-KC-A7F3-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcdd04ee-ff3e-4fa3-8115-4c94b0af9170	45a165ad-d560-4ed7-87ac-056436c3d192	g.chr11:119045313C>T	ENST00000409109.1	+	6	1588	c.1001C>T	c.(1000-1002)gCc>gTc	p.A334V	NLRX1_ENST00000409265.4_Missense_Mutation_p.A334V|NLRX1_ENST00000525863.1_Missense_Mutation_p.A334V|NLRX1_ENST00000292199.2_Missense_Mutation_p.A334V|NLRX1_ENST00000409991.1_Missense_Mutation_p.A334V	NM_001282144.1	NP_001269073.1	Q86UT6	NLRX1_HUMAN	NLR family member X1	334	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.|Required for interaction with MAVS.				innate immune response (GO:0045087)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of inflammatory response (GO:0050728)|negative regulation of innate immune response (GO:0045824)|negative regulation of interferon-beta production (GO:0032688)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of RIG-I signaling pathway (GO:0039536)|negative regulation of type I interferon production (GO:0032480)|viral process (GO:0016032)	mitochondrial outer membrane (GO:0005741)	ATP binding (GO:0005524)			cervix(1)|endometrium(2)|kidney(2)|lung(10)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	22	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)		TGCGGGTATGCCGTTGGCGGT	0.607																																						ENST00000409109.1																			0				cervix(1)|endometrium(2)|kidney(2)|lung(10)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	22						c.(1000-1002)gCc>gTc		NLR family member X1							108	106	107					11																	119045313		2200	4295	6495	SO:0001583	missense	79671				innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production	mitochondrial outer membrane	ATP binding	g.chr11:119045313C>T	AB094095	CCDS8416.1	11q23.3	2007-02-07			ENSG00000160703	ENSG00000160703		"Nucleotide-binding domain and leucine rich repeat containing"	29890	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat containing X1", "NOD-like receptor X1", "NLR family, X1"	611947				12766759	Standard	XM_005271669		Approved	NOD9, CLR11.3	uc001pvw.3	Q86UT6	OTTHUMG00000154476	ENST00000409109.1:c.1001C>T	11.37:g.119045313C>T	ENSP00000387334:p.Ala334Val					NLRX1_ENST00000409265.4_Missense_Mutation_p.A334V|NLRX1_ENST00000525863.1_Missense_Mutation_p.A334V|NLRX1_ENST00000409991.1_Missense_Mutation_p.A334V|NLRX1_ENST00000292199.2_Missense_Mutation_p.A334V	p.A334V			Q86UT6	NLRX1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)	6	1588	+	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)	334			NACHT.|Required for interaction with MAVS.		A8K6Q1|B3KPK2|B3KTA2|Q7RTR3|Q96D51|Q9H724	Missense_Mutation	SNP	ENST00000409109.1	37	c.1001C>T	CCDS8416.1	.	.	.	.	.	.	.	.	.	.	C	4.937	0.174157	0.09391	.	.	ENSG00000160703	ENST00000409991;ENST00000292199;ENST00000409265;ENST00000409109;ENST00000525863	T;T;T;T;T	0.71222	-0.45;-0.45;-0.55;-0.45;-0.55	5.57	2.47	0.30058	.	0.579236	0.17487	N	0.172485	T	0.43875	0.1267	N	0.08118	0	0.09310	N	1	B;B	0.17038	0.001;0.02	B;B	0.14023	0.003;0.01	T	0.22103	-1.0226	10	0.48119	T	0.1	.	2.686	0.05107	0.15:0.3204:0.3977:0.132	.	334;334	Q86UT6-2;Q86UT6	.;NLRX1_HUMAN	V	334	ENSP00000386851:A334V;ENSP00000292199:A334V;ENSP00000386858:A334V;ENSP00000387334:A334V;ENSP00000433442:A334V	ENSP00000292199:A334V	A	+	2	0	NLRX1	118550523	0.002000	0.14202	0.002000	0.10522	0.001000	0.01503	1.189000	0.32114	1.394000	0.46624	0.644000	0.83932	GCC		0.607	NLRX1-004	PUTATIVE	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335403.1	NM_170722		4	166	0	0	0	1	0	4	166					T	119045313	C	T	119045313	3	4	299	1	0	0	0	0	1	0	0	0	10485	739	26	3	1019	3	NLRX1	11	119045313	Missense_Mutation	SNP	C	TCGA-KC-A7F3-01A-21D-A33T-08	24931405	119045313	15961203	27	14307											
PPP2R3C	55012	broad.mit.edu	37	chr14	35564292	35564292	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gagacactcctggaaaacacGgtctaagaagacattggtca	15	7	10	9	1	2	3	1	0	1	3	3	5	3	4	1	3	1	0	1	3	4	2			TCGA-KC-A7F3-01A-21D-A33T-08	TCGA-KC-A7F3-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcdd04ee-ff3e-4fa3-8115-4c94b0af9170	45a165ad-d560-4ed7-87ac-056436c3d192	g.chr14:35564292G>C	ENST00000261475.5	-	10	1290	c.937C>G	c.(937-939)Cgt>Ggt	p.R313G		NM_017917.2	NP_060387.2	Q969Q6	P2R3C_HUMAN	protein phosphatase 2, regulatory subunit B'', gamma	313					activation of protein kinase activity (GO:0032147)|B cell homeostasis (GO:0001782)|positive regulation of B cell differentiation (GO:0045579)|regulation of antimicrobial humoral response (GO:0002759)|regulation of mitochondrial depolarization (GO:0051900)|spleen development (GO:0048536)|T cell homeostasis (GO:0043029)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			central_nervous_system(1)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)	15	Breast(36;0.0545)|Hepatocellular(127;0.158)|Prostate(35;0.184)		Lung(238;8.62e-06)|LUAD - Lung adenocarcinoma(48;1.42e-05)|Epithelial(34;0.0177)|all cancers(34;0.0491)	GBM - Glioblastoma multiforme(112;0.0803)		TGGAAAACACGGTCTAAGAAG	0.413																																						ENST00000261475.5																			0				central_nervous_system(1)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)	15						c.(937-939)Cgt>Ggt		protein phosphatase 2, regulatory subunit B'', gamma							123	110	114					14																	35564292		2203	4300	6503	SO:0001583	missense	55012					centrosome|nucleus	calcium ion binding	g.chr14:35564292G>C	AK000651	CCDS9654.1	14q13.2	2010-06-18	2010-06-18	2007-01-22	ENSG00000092020	ENSG00000092020		"Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"	17485	protein-coding gene	gene with protein product		615902	"chromosome 14 open reading frame 10", "protein phosphatase 2 (formerly 2A), regulatory subunit B'', gamma"	C14orf10		12167160, 16129705	Standard	NM_017917		Approved	FLJ20644, G4-1, G5PR	uc001wss.3	Q969Q6	OTTHUMG00000140224	ENST00000261475.5:c.937C>G	14.37:g.35564292G>C	ENSP00000261475:p.Arg313Gly						p.R313G	NM_017917.2	NP_060387.2	Q969Q6	P2R3C_HUMAN	Lung(238;8.62e-06)|LUAD - Lung adenocarcinoma(48;1.42e-05)|Epithelial(34;0.0177)|all cancers(34;0.0491)	GBM - Glioblastoma multiforme(112;0.0803)	10	1290	-	Breast(36;0.0545)|Hepatocellular(127;0.158)|Prostate(35;0.184)		313					B4DEN7|D3DS97|D3DS98|Q5GJ55|Q5GJ56|Q6P4G2|Q86TZ3|Q9NWR9	Missense_Mutation	SNP	ENST00000261475.5	37	c.937C>G	CCDS9654.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.124459	0.77436	.	.	ENSG00000092020	ENST00000261475;ENST00000555219	T;T	0.70399	-0.43;-0.48	5.25	5.25	0.73442	EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	D	0.88028	0.6327	M	0.91459	3.21	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.90413	0.4411	10	0.87932	D	0	-3.7963	19.203	0.93719	0.0:0.0:1.0:0.0	.	313	Q969Q6	P2R3C_HUMAN	G	313;34	ENSP00000261475:R313G;ENSP00000452173:R34G	ENSP00000261475:R313G	R	-	1	0	PPP2R3C	34634043	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.525000	0.81892	2.611000	0.88343	0.655000	0.94253	CGT		0.413	PPP2R3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276687.1	NM_017917		8	42	0	0	0	1	0	8	42					C	35564292	G	C	35564292	3	2	299	1	0	0	0	0	1	0	0	0	12390	1116	39	5	440	5	PPP2R3C	14	35564292	Missense_Mutation	SNP	G	TCGA-KC-A7F3-01A-21D-A33T-08		35564292	71785248	28	14308											
SLC38A6	145389	broad.mit.edu	37	chr14	61503802	61503802	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtatcttgatggacaaacaCtactaataatcatatgtgtt	14	14	7	6	0	2	1	1	1	1	0	2	2	2	2	0	2	2	2	0	2	6	7	rs200242212		TCGA-KC-A7F3-01A-21D-A33T-08	TCGA-KC-A7F3-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcdd04ee-ff3e-4fa3-8115-4c94b0af9170	45a165ad-d560-4ed7-87ac-056436c3d192	g.chr14:61503802C>T	ENST00000267488.4	+	7	624	c.508C>T	c.(508-510)Cta>Tta	p.L170L	SLC38A6_ENST00000354886.2_Silent_p.L170L|SLC38A6_ENST00000456840.2_Silent_p.L147L	NM_153811.2	NP_722518.2	Q8IZM9	S38A6_HUMAN	solute carrier family 38, member 6	170					amino acid transport (GO:0006865)|sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(5)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	21				OV - Ovarian serous cystadenocarcinoma(108;0.0981)		TGGACAAACACTACTAATAAT	0.358																																						ENST00000354886.2																			0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(5)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	21						c.(508-510)Cta>Tta		solute carrier family 38, member 6							160	152	154					14																	61503802		2203	4300	6503	SO:0001819	synonymous_variant	145389				amino acid transport|sodium ion transport	integral to membrane		g.chr14:61503802C>T	AF070578	CCDS9751.1, CCDS53900.1	14q23.1	2013-05-22			ENSG00000139974	ENSG00000139974		"Solute carriers"	19863	protein-coding gene	gene with protein product							Standard	NM_153811		Approved	NAT-1	uc001xfh.2	Q8IZM9	OTTHUMG00000140335	ENST00000267488.4:c.508C>T	14.37:g.61503802C>T						SLC38A6_ENST00000456840.2_Silent_p.L147L|SLC38A6_ENST00000267488.4_Silent_p.L170L	p.L170L	NM_001172702.1	NP_001166173.1	Q8IZM9	S38A6_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0981)	7	672	+			170					C9JWA6|Q86SY5	Silent	SNP	ENST00000267488.4	37	c.508C>T	CCDS9751.1																																																																																				0.358	SLC38A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276957.1			6	62	0	0	0	1	0	6	62					T	61503802	C	T	61503802	2	4	299	1	0	0	0	0	0	0	0	1	14608	564	20	3		3	SLC38A6	14	61503802	Silent	SNP	C	TCGA-KC-A7F3-01A-21D-A33T-08	25939510	61503802	45845738	29	14309											
TTLL5	23093	broad.mit.edu	37	chr14	76349085	76349085	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tatggacaatgaataatggtGcaggttgtagaatttccagt	13	13	11	4	0	0	2	0	1	0	1	1	3	1	3	1	3	1	3	1	3	6	5			TCGA-KC-A7F3-01A-21D-A33T-08	TCGA-KC-A7F3-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcdd04ee-ff3e-4fa3-8115-4c94b0af9170	45a165ad-d560-4ed7-87ac-056436c3d192	g.chr14:76349085G>A	ENST00000298832.9	+	30	3785	c.3580G>A	c.(3580-3582)Gca>Aca	p.A1194T	TTLL5_ENST00000556893.1_Missense_Mutation_p.A745T|TTLL5_ENST00000557636.1_Missense_Mutation_p.A1209T|TTLL5_ENST00000554510.1_Missense_Mutation_p.A703T	NM_015072.4	NP_055887.3	Q6EMB2	TTLL5_HUMAN	tubulin tyrosine ligase-like family, member 5	1194					fertilization (GO:0009566)|protein polyglutamylation (GO:0018095)|sperm axoneme assembly (GO:0007288)|sperm motility (GO:0030317)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)			NS(2)|breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(3)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(2)	50				BRCA - Breast invasive adenocarcinoma(234;0.029)		GAATAATGGTGCAGGTTGTAG	0.453																																						ENST00000298832.9																			0				NS(2)|breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(3)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(2)	50						c.(3580-3582)Gca>Aca		tubulin tyrosine ligase-like family, member 5							89	91	91					14																	76349085		2203	4300	6503	SO:0001583	missense	23093				protein modification process|transcription, DNA-dependent	centrosome|cilium|microtubule basal body|nucleus	tubulin-tyrosine ligase activity	g.chr14:76349085G>A	AF107885	CCDS32124.1	14q24.3	2014-09-09	2005-07-29	2005-07-29	ENSG00000119685	ENSG00000119685		"Tubulin tyrosine ligase-like family"	19963	protein-coding gene	gene with protein product		612268	"KIAA0998"	KIAA0998		15890843	Standard	NM_015072		Approved		uc001xrx.3	Q6EMB2	OTTHUMG00000171611	ENST00000298832.9:c.3580G>A	14.37:g.76349085G>A	ENSP00000298832:p.Ala1194Thr					TTLL5_ENST00000557636.1_Missense_Mutation_p.A1209T|TTLL5_ENST00000554510.1_Missense_Mutation_p.A703T|TTLL5_ENST00000556893.1_Missense_Mutation_p.A745T	p.A1194T	NM_015072.4	NP_055887.3	Q6EMB2	TTLL5_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.029)	30	3785	+			1194					B9EGH8|B9EGH9|Q9BUB0|Q9H0G4|Q9H7W2|Q9P1V5|Q9UPZ4	Missense_Mutation	SNP	ENST00000298832.9	37	c.3580G>A	CCDS32124.1	.	.	.	.	.	.	.	.	.	.	G	13.75	2.330419	0.41297	.	.	ENSG00000119685	ENST00000286653;ENST00000557636;ENST00000298832;ENST00000393826;ENST00000556893;ENST00000554510	T;T;T;T	0.24350	3.96;4.04;1.86;1.86	5.18	0.925	0.19424	.	0.565064	0.17922	N	0.157471	T	0.12902	0.0313	N	0.19112	0.55	0.21984	N	0.99944	B;B;B;B	0.14805	0.003;0.011;0.005;0.001	B;B;B;B	0.16289	0.003;0.015;0.011;0.001	T	0.16188	-1.0411	10	0.46703	T	0.11	.	3.3292	0.07077	0.1541:0.1409:0.5683:0.1367	.	1209;268;745;1194	G3V2J9;F8W7N3;Q6EMB2-2;Q6EMB2	.;.;.;TTLL5_HUMAN	T	268;1209;1194;745;745;703	ENSP00000450713:A1209T;ENSP00000298832:A1194T;ENSP00000452524:A745T;ENSP00000451946:A703T	ENSP00000286653:A268T	A	+	1	0	TTLL5	75418838	1.000000	0.71417	0.979000	0.43373	0.893000	0.52053	0.846000	0.27682	0.388000	0.25054	0.655000	0.94253	GCA		0.453	TTLL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414453.1	NM_015072		17	60	0	0	0	1	0	17	60					A	76349085	G	A	76349085	3	1	299	1	0	0	0	0	1	0	0	0	16727	1319	46	3	3694	3	TTLL5	14	76349085	Missense_Mutation	SNP	G	TCGA-KC-A7F3-01A-21D-A33T-08	14845283	76349085	31000455	30	14310											
C14orf102	55051	broad.mit.edu	37	chr14	90770672	90770672	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtggaagtcccttcccaagaTatgcactgcttcttagggtt	8	13	10	10	0	1	1	0	0	1	1	3	2	3	2	2	2	2	3	2	2	4	5			TCGA-KC-A7F3-01A-21D-A33T-08	TCGA-KC-A7F3-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcdd04ee-ff3e-4fa3-8115-4c94b0af9170	45a165ad-d560-4ed7-87ac-056436c3d192	g.chr14:90770672T>C	ENST00000354366.3	-	5	844	c.612A>G	c.(610-612)atA>atG	p.I204M	NRDE2_ENST00000357904.3_De_novo_Start_InFrame	NM_017970.3	NP_060440.2	Q9H7Z3	NRDE2_HUMAN	NRDE-2, necessary for RNA interference, domain containing	204																	CTTCCCAAGATATGCACTGCT	0.413																																						ENST00000354366.3																			0											c.(610-612)atA>atG		NRDE-2, necessary for RNA interference, domain containing							95	85	89					14																	90770672		2203	4300	6503	SO:0001583	missense	55051							g.chr14:90770672T>C	AK000870	CCDS9890.1	14q32.11	2012-12-14	2012-09-25	2012-09-25	ENSG00000119720	ENSG00000119720			20186	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 102"	C14orf102			Standard	NM_017970		Approved	FLJ14051	uc001xyi.2	Q9H7Z3	OTTHUMG00000171020	ENST00000354366.3:c.612A>G	14.37:g.90770672T>C	ENSP00000346335:p.Ile204Met					NRDE2_ENST00000357904.3_De_novo_Start_InFrame	p.I204M	NM_017970.3	NP_060440.2					5	844	-								B4DH71|Q4G0A7|Q9NWH6	Missense_Mutation	SNP	ENST00000354366.3	37	c.612A>G	CCDS9890.1	.	.	.	.	.	.	.	.	.	.	T	17.83	3.484514	0.63962	.	.	ENSG00000119720	ENST00000354366	T	0.25579	1.79	5.22	2.81	0.32909	.	0.164283	0.52532	D	0.000068	T	0.36580	0.0972	M	0.69823	2.125	0.80722	D	1	P	0.48089	0.905	P	0.54499	0.754	T	0.06862	-1.0803	10	0.51188	T	0.08	-7.7686	5.5008	0.16827	0.267:0.0721:0.0:0.6609	.	204	Q9H7Z3	CN102_HUMAN	M	204	ENSP00000346335:I204M	ENSP00000346335:I204M	I	-	3	3	C14orf102	89840425	0.985000	0.35326	1.000000	0.80357	0.944000	0.59088	0.093000	0.15086	0.371000	0.24564	0.533000	0.62120	ATA		0.413	NRDE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411264.1	NM_017970		11	46	0	0	0	1	0	11	46					C	90770672	T	C	90770672	3	2	299	1	0	0	0	0	1	0	0	0	1735	1396	49	4	2922	4	C14orf102	14	90770672	Missense_Mutation	SNP	T	TCGA-KC-A7F3-01A-21D-A33T-08	14421587	90770672	16578868	31	14311											
KRT33B	3884	broad.mit.edu	37	chr17	39520187	39520187	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcacatgcattggtggtggcGcaggggttggagggcagcct	6	9	18	8	1	1	0	1	0	0	0	1	1	1	1	1	7	2	4	1	7	0	2	rs139682874		TCGA-KC-A7F3-01A-21D-A33T-08	TCGA-KC-A7F3-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcdd04ee-ff3e-4fa3-8115-4c94b0af9170	45a165ad-d560-4ed7-87ac-056436c3d192	g.chr17:39520187G>A	ENST00000251646.3	-	7	1165	c.1116C>T	c.(1114-1116)tgC>tgT	p.C372C		NM_002279.4	NP_002270.1	Q14525	KT33B_HUMAN	keratin 33B	372	Tail.				aging (GO:0007568)|hair cycle (GO:0042633)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|lung(6)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	21		Breast(137;0.000496)				TGGTGGTGGCGCAGGGGTTGG	0.522																																						ENST00000251646.3																			0				NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|lung(6)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	21						c.(1114-1116)tgC>tgT		keratin 33B		G		0,4380		0,0,2190	121	125	124		1116	-4.2	1	17	dbSNP_134	124	1,8599		0,1,4299	no	coding-synonymous	KRT33B	NM_002279.3		0,1,6489	AA,AG,GG		0.0116,0.0,0.0077		372/405	39520187	1,12979	2190	4300	6490	SO:0001819	synonymous_variant	3884					intermediate filament	protein binding|structural molecule activity	g.chr17:39520187G>A	X82634	CCDS11389.1	17q21.2	2013-01-16	2006-07-17	2006-07-17	ENSG00000131738	ENSG00000131738		"-", "Intermediate filaments type I, keratins (acidic)"	6451	protein-coding gene	gene with protein product	"hard keratin type I 3II"	602762	"keratin, hair, acidic, 3B"	KRTHA3B		7565656, 16831889	Standard	NM_002279		Approved	Ha-3II	uc002hwl.4	Q14525	OTTHUMG00000133429	ENST00000251646.3:c.1116C>T	17.37:g.39520187G>A							p.C372C	NM_002279.4	NP_002270.1	Q14525	KT33B_HUMAN			7	1165	-		Breast(137;0.000496)	372			Tail.		O76010	Silent	SNP	ENST00000251646.3	37	c.1116C>T	CCDS11389.1																																																																																				0.522	KRT33B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257292.1	NM_002279		3	56	0	0	0	1	0	3	56					A	39520187	G	A	39520187	2	1	299	1	0	0	0	0	0	0	0	1	8470	1079	38	1		1	KRT33B	17	39520187	Silent	SNP	G	TCGA-KC-A7F3-01A-21D-A33T-08		39520187	41675023	32	14312											
WIPI1	55062	broad.mit.edu	37	chr17	66440641	66440641	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ttttggagctcacctgttggGtttgcaggaatatccaggag	8	13	13	7	0	1	0	1	0	0	0	2	3	2	3	2	4	2	4	2	4	2	5			TCGA-KC-A7F3-01A-21D-A33T-08	TCGA-KC-A7F3-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcdd04ee-ff3e-4fa3-8115-4c94b0af9170	45a165ad-d560-4ed7-87ac-056436c3d192	g.chr17:66440641G>A	ENST00000262139.5	-	4	422	c.423C>T	c.(421-423)aaC>aaT	p.N141N	WIPI1_ENST00000589459.1_5'UTR|WIPI1_ENST00000546360.1_Silent_p.N59N	NM_017983.5	NP_060453.3	Q5MNZ9	WIPI1_HUMAN	WD repeat domain, phosphoinositide interacting 1	141					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|autophagy (GO:0006914)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|vesicle targeting, trans-Golgi to endosome (GO:0048203)	autophagic vacuole membrane (GO:0000421)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|pre-autophagosomal structure (GO:0000407)|pre-autophagosomal structure membrane (GO:0034045)|trans-Golgi network (GO:0005802)	androgen receptor binding (GO:0050681)|estrogen receptor binding (GO:0030331)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|receptor binding (GO:0005102)			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	18						CACCTGTTGGGTTTGCAGGAA	0.423																																						ENST00000262139.5																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	18						c.(421-423)aaC>aaT		WD repeat domain, phosphoinositide interacting 1							140	129	132					17																	66440641		2203	4300	6503	SO:0001819	synonymous_variant	55062				macroautophagy|vesicle targeting, trans-Golgi to endosome	autophagic vacuole membrane|clathrin-coated vesicle|cytosol|endosome membrane|PAS complex|pre-autophagosomal structure membrane|trans-Golgi network	androgen receptor binding|estrogen receptor binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding	g.chr17:66440641G>A		CCDS11677.1	17q24.2	2014-02-12				ENSG00000070540		"WD repeat domain containing"	25471	protein-coding gene	gene with protein product		609224				15020712, 15602573	Standard	NM_017983		Approved	FLJ10055, WIPI49, Atg18, ATG18A	uc010dey.3	Q5MNZ9		ENST00000262139.5:c.423C>T	17.37:g.66440641G>A						WIPI1_ENST00000589459.1_5'UTR|WIPI1_ENST00000546360.1_Silent_p.N59N	p.N141N	NM_017983.5	NP_060453.3	Q5MNZ9	WIPI1_HUMAN			4	422	-			141					Q8IXM5|Q9NWF8	Silent	SNP	ENST00000262139.5	37	c.423C>T	CCDS11677.1																																																																																				0.423	WIPI1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448739.1	NM_017983		19	53	0	0	0	1	0	19	53					A	66440641	G	A	66440641	2	1	299	1	0	0	0	0	0	0	0	1	17367	1252	44	3		3	WIPI1	17	66440641	Silent	SNP	G	TCGA-KC-A7F3-01A-21D-A33T-08	26920454	66440641	14754569	33	14313											
ABCA10	10349	broad.mit.edu	37	chr17	67210954	67210959	+	In_Frame_Del	DEL	AAAAAT	AAAAAT	-																															gaatccccagagggatcaggAaaaataacaccacttaagta																										TCGA-KC-A7F3-01A-21D-A33T-08	TCGA-KC-A7F3-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcdd04ee-ff3e-4fa3-8115-4c94b0af9170	45a165ad-d560-4ed7-87ac-056436c3d192	g.chr17:67210954_67210959delAAAAAT	ENST00000269081.4	-	10	1801_1806	c.892_897delATTTTT	c.(892-897)atttttdel	p.IF298del	ABCA10_ENST00000432313.2_In_Frame_Del_p.IF298del|ABCA10_ENST00000416101.2_In_Frame_Del_p.IF298del	NM_080282.3	NP_525021.3	Q8WWZ4	ABCAA_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 10	298					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(34)|ovary(2)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	81	Breast(10;6.95e-12)					AGGGATCAGGAAAAATAACACCACTT	0.267																																						ENST00000269081.4																			0				breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(34)|ovary(2)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	81						c.(892-897)del		ATP-binding cassette, sub-family A (ABC1), member 10																																				SO:0001651	inframe_deletion	10349				transport	integral to membrane	ATP binding|ATPase activity	g.chr17:67210954_67210959delAAAAAT	AY247065	CCDS11684.1	17q24	2012-03-14			ENSG00000154263	ENSG00000154263		"ATP binding cassette transporters / subfamily A"	30	protein-coding gene	gene with protein product		612508				12821155, 11435397	Standard	NM_080282		Approved	EST698739	uc010dfa.1	Q8WWZ4	OTTHUMG00000164716	ENST00000269081.4:c.892_897delATTTTT	17.37:g.67210954_67210959delAAAAAT	ENSP00000269081:p.Ile298_Phe299del					ABCA10_ENST00000432313.2_In_Frame_Del_p.IF298del|ABCA10_ENST00000416101.2_In_Frame_Del_p.IF298del	p.IF298del	NM_080282.3	NP_525021.3	Q8WWZ4	ABCAA_HUMAN			10	1801_1806	-	Breast(10;6.95e-12)		298					C9JZH2|C9K035|Q6PIQ6|Q7Z2I9|Q7Z7P7|Q86TD2	In_Frame_Del	DEL	ENST00000269081.4	37	c.892_897delATTTTT	CCDS11684.1																																																																																				0.267	ABCA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379881.4	NM_080282		11	57						11	57	---	---	---	---	-	67210959	AAAAAT	-	67210954	7	5	299	1	0	1	0	1	0	0	0	0	29	243	9	0	3858	0	ABCA10	17	67210954	In_Frame_Del	DEL	AAAAAT	TCGA-KC-A7F3-01A-21D-A33T-08	770313	67210954	13984256	34	14314											
C17orf80	55028	broad.mit.edu	37	chr17	71232290	71232290	+	Silent	SNP	G	G	T																															ctagtaaaattactagatgtGcctactggtgattgtcatat																										TCGA-KC-A7F3-01A-21D-A33T-08	TCGA-KC-A7F3-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcdd04ee-ff3e-4fa3-8115-4c94b0af9170	45a165ad-d560-4ed7-87ac-056436c3d192	g.chr17:71232290G>T	ENST00000535032.2	+	2	782	c.669G>T	c.(667-669)gtG>gtT	p.V223V	C17orf80_ENST00000426147.2_Silent_p.V223V|C17orf80_ENST00000582793.1_Intron|C17orf80_ENST00000268942.8_Silent_p.V223V|C17orf80_ENST00000577615.1_Silent_p.V223V|FAM104A_ENST00000583178.1_Intron|C17orf80_ENST00000359042.2_Silent_p.V223V|C17orf80_ENST00000255557.4_Silent_p.V223V			Q9BSJ5	CQ080_HUMAN	chromosome 17 open reading frame 80	223						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				kidney(1)|large_intestine(5)|lung(2)|skin(2)|stomach(2)|urinary_tract(2)	14			LUSC - Lung squamous cell carcinoma(166;0.197)			TACTAGATGTGCCTACTGGTG	0.388																																						ENST00000359042.2																			0				kidney(1)|large_intestine(5)|lung(2)|skin(2)|stomach(2)|urinary_tract(2)	14						c.(667-669)gtG>gtT		chromosome 17 open reading frame 80							74	79	77					17																	71232290		2203	4300	6503	SO:0001819	synonymous_variant	55028					integral to membrane		g.chr17:71232290G>T	AY163812	CCDS11694.1, CCDS42377.1, CCDS45767.1, CCDS74145.1	17q25.1	2012-02-24	2012-02-24	2012-02-24	ENSG00000141219	ENSG00000141219			29601	protein-coding gene	gene with protein product	"sperm-expressed protein 1", "migration-inducing protein 3"					12477932	Standard	NM_017941		Approved	HLC-8, MIG3, FLJ20721, SPEP1	uc002jjl.4	Q9BSJ5		ENST00000535032.2:c.669G>T	17.37:g.71232290G>T						C17orf80_ENST00000268942.8_Silent_p.V223V|C17orf80_ENST00000426147.2_Silent_p.V223V|C17orf80_ENST00000535032.2_Silent_p.V223V|C17orf80_ENST00000582793.1_Intron|C17orf80_ENST00000577615.1_Silent_p.V223V|FAM104A_ENST00000583178.1_Intron|C17orf80_ENST00000255557.4_Silent_p.V223V	p.V223V	NM_017941.4	NP_060411.2	Q9BSJ5	CQ080_HUMAN	LUSC - Lung squamous cell carcinoma(166;0.197)		3	863	+			223					A8K9X3|Q5JB45|Q6YAU3|Q9H0L9|Q9H5E6|Q9NWN5	Silent	SNP	ENST00000535032.2	37	c.669G>T	CCDS11694.1																																																																																				0.388	C17orf80-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000441893.1	NM_017941		9	53	1	0	3.86212e-05	1	4.03004e-05	9	53					T	71232290	G	T	71232290	2	4	299	1	0	0	0	0	0	0	0	1	1885	1306	46	5		5	C17orf80	17	71232290	Silent	SNP	G	TCGA-KC-A7F3-01A-21D-A33T-08	4021336	71232290	9962920	35	14315	70	2									
C17orf80	55028	broad.mit.edu	37	chr17	71232291	71232291	+	Missense_Mutation	SNP	C	C	T																															tagtaaaattactagatgtgCctactggtgattgtcatatt																										TCGA-KC-A7F3-01A-21D-A33T-08	TCGA-KC-A7F3-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcdd04ee-ff3e-4fa3-8115-4c94b0af9170	45a165ad-d560-4ed7-87ac-056436c3d192	g.chr17:71232291C>T	ENST00000535032.2	+	2	783	c.670C>T	c.(670-672)Cct>Tct	p.P224S	C17orf80_ENST00000426147.2_Missense_Mutation_p.P224S|C17orf80_ENST00000582793.1_Intron|C17orf80_ENST00000268942.8_Missense_Mutation_p.P224S|C17orf80_ENST00000577615.1_Missense_Mutation_p.P224S|FAM104A_ENST00000583178.1_Intron|C17orf80_ENST00000359042.2_Missense_Mutation_p.P224S|C17orf80_ENST00000255557.4_Missense_Mutation_p.P224S			Q9BSJ5	CQ080_HUMAN	chromosome 17 open reading frame 80	224						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				kidney(1)|large_intestine(5)|lung(2)|skin(2)|stomach(2)|urinary_tract(2)	14			LUSC - Lung squamous cell carcinoma(166;0.197)			ACTAGATGTGCCTACTGGTGA	0.383																																						ENST00000359042.2																			0				kidney(1)|large_intestine(5)|lung(2)|skin(2)|stomach(2)|urinary_tract(2)	14						c.(670-672)Cct>Tct		chromosome 17 open reading frame 80							74	79	77					17																	71232291		2203	4300	6503	SO:0001583	missense	55028					integral to membrane		g.chr17:71232291C>T	AY163812	CCDS11694.1, CCDS42377.1, CCDS45767.1, CCDS74145.1	17q25.1	2012-02-24	2012-02-24	2012-02-24	ENSG00000141219	ENSG00000141219			29601	protein-coding gene	gene with protein product	"sperm-expressed protein 1", "migration-inducing protein 3"					12477932	Standard	NM_017941		Approved	HLC-8, MIG3, FLJ20721, SPEP1	uc002jjl.4	Q9BSJ5		ENST00000535032.2:c.670C>T	17.37:g.71232291C>T	ENSP00000440551:p.Pro224Ser					C17orf80_ENST00000268942.8_Missense_Mutation_p.P224S|C17orf80_ENST00000426147.2_Missense_Mutation_p.P224S|C17orf80_ENST00000535032.2_Missense_Mutation_p.P224S|C17orf80_ENST00000582793.1_Intron|C17orf80_ENST00000577615.1_Missense_Mutation_p.P224S|FAM104A_ENST00000583178.1_Intron|C17orf80_ENST00000255557.4_Missense_Mutation_p.P224S	p.P224S	NM_017941.4	NP_060411.2	Q9BSJ5	CQ080_HUMAN	LUSC - Lung squamous cell carcinoma(166;0.197)		3	864	+			224					A8K9X3|Q5JB45|Q6YAU3|Q9H0L9|Q9H5E6|Q9NWN5	Missense_Mutation	SNP	ENST00000535032.2	37	c.670C>T	CCDS11694.1	.	.	.	.	.	.	.	.	.	.	C	15.12	2.740015	0.49045	.	.	ENSG00000141219	ENST00000255557;ENST00000359042;ENST00000268942;ENST00000426147;ENST00000535032	T;T;T;T;T	0.25085	1.82;1.82;1.82;1.82;1.82	5.14	0.908	0.19326	.	0.824954	0.10974	N	0.613462	T	0.27241	0.0668	L	0.41824	1.3	0.09310	N	1	P;D;P;D	0.57899	0.946;0.976;0.946;0.981	P;P;P;P	0.54889	0.509;0.698;0.509;0.763	T	0.17077	-1.0381	10	0.21540	T	0.41	-3.3004	5.1791	0.15150	0.0:0.6101:0.1519:0.238	.	224;224;224;224	B7Z7E5;Q9BSJ5;Q9BSJ5-2;Q9BSJ5-3	.;CQ080_HUMAN;.;.	S	224	ENSP00000255557:P224S;ENSP00000351937:P224S;ENSP00000268942:P224S;ENSP00000396970:P224S;ENSP00000440551:P224S	ENSP00000255557:P224S	P	+	1	0	C17orf80	68743886	0.004000	0.15560	0.000000	0.03702	0.105000	0.19272	0.464000	0.21988	-0.037000	0.13646	0.561000	0.74099	CCT		0.383	C17orf80-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000441893.1	NM_017941		9	54	0	0	0	1	0	9	54					T	71232291	C	T	71232291	3	4	299	1	0	0	0	0	1	0	0	0	1885	739	26	3	672	3	C17orf80	17	71232291	Missense_Mutation	SNP	C	TCGA-KC-A7F3-01A-21D-A33T-08	1	71232291	9962919	36	14316	70	2									
LONP1	9361	broad.mit.edu	37	chr19	5711843	5711843	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctctacctccaccatgagcAcctcagccgggagctcaggg	8	7	10	16	1	3	1	2	1	1	0	5	2	4	2	5	2	4	2	5	2	1	1			TCGA-KC-A7F3-01A-21D-A33T-08	TCGA-KC-A7F3-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcdd04ee-ff3e-4fa3-8115-4c94b0af9170	45a165ad-d560-4ed7-87ac-056436c3d192	g.chr19:5711843A>C	ENST00000360614.3	-	4	966	c.809T>G	c.(808-810)gTg>gGg	p.V270G	LONP1_ENST00000593119.1_Missense_Mutation_p.V206G|LONP1_ENST00000585374.1_Missense_Mutation_p.V156G|LONP1_ENST00000590729.1_Missense_Mutation_p.V156G|LONP1_ENST00000540670.2_Missense_Mutation_p.V74G	NM_004793.2	NP_004784.2			lon peptidase 1, mitochondrial											breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						CACCATGAGCACCTCAGCCGG	0.657																																						ENST00000360614.3																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						c.(808-810)gTg>gGg		lon peptidase 1, mitochondrial							80	74	76					19																	5711843		2203	4300	6503	SO:0001583	missense	9361				cellular chaperone-mediated protein complex assembly|cellular response to oxidative stress|misfolded or incompletely synthesized protein catabolic process|mitochondrial DNA metabolic process|oxidation-dependent protein catabolic process|protein homooligomerization|response to hypoxia	mitochondrial nucleoid	ADP binding|ATP binding|ATP-dependent peptidase activity|DNA polymerase binding|G-quadruplex DNA binding|mitochondrial heavy strand promoter anti-sense binding|mitochondrial light strand promoter anti-sense binding|sequence-specific DNA binding|serine-type endopeptidase activity|single-stranded DNA binding|single-stranded RNA binding	g.chr19:5711843A>C	U02389	CCDS12148.1, CCDS62507.1, CCDS62508.1	19p13.2	2014-01-28	2006-10-20	2006-10-20	ENSG00000196365	ENSG00000196365		"ATPases / AAA-type", "Serine peptidases / Serine peptidases"	9479	protein-coding gene	gene with protein product		605490	"protease, serine, 15"	PRSS15		8248235, 8119403	Standard	NM_004793		Approved	LonHS, hLON, PIM1	uc002mcx.4	P36776		ENST00000360614.3:c.809T>G	19.37:g.5711843A>C	ENSP00000353826:p.Val270Gly					LONP1_ENST00000540670.2_Missense_Mutation_p.V74G|LONP1_ENST00000585374.1_Missense_Mutation_p.V156G|LONP1_ENST00000593119.1_Missense_Mutation_p.V206G|LONP1_ENST00000590729.1_Missense_Mutation_p.V156G	p.V270G	NM_004793.2	NP_004784.2	P36776	LONM_HUMAN			4	966	-			270			Lon.			Missense_Mutation	SNP	ENST00000360614.3	37	c.809T>G	CCDS12148.1	.	.	.	.	.	.	.	.	.	.	A	21.7	4.194127	0.78902	.	.	ENSG00000196365	ENST00000360614;ENST00000358403;ENST00000540670	T;T	0.27402	1.93;1.67	4.87	4.87	0.63330	Peptidase S16, lon N-terminal (2);	0.212646	0.39909	N	0.001239	T	0.55545	0.1927	M	0.87547	2.89	0.80722	D	1	P;P;P	0.45827	0.867;0.785;0.867	P;P;P	0.57720	0.826;0.742;0.826	T	0.61850	-0.6978	10	0.56958	D	0.05	-3.7462	12.4245	0.55538	1.0:0.0:0.0:0.0	.	270;206;270	E5KMH8;Q8N8K8;P36776	.;.;LONM_HUMAN	G	270;234;74	ENSP00000353826:V270G;ENSP00000441523:V74G	ENSP00000351177:V234G	V	-	2	0	LONP1	5662843	1.000000	0.71417	1.000000	0.80357	0.605000	0.37080	8.207000	0.89746	1.825000	0.53177	0.454000	0.30748	GTG		0.657	LONP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451662.1	NM_004793		7	69	0	0	0	1	0	7	69					C	5711843	A	C	5711843	3	2	299	1	0	0	0	0	1	0	0	0	8892	159	6	5	2130	5	LONP1	19	5711843	Missense_Mutation	SNP	A	TCGA-KC-A7F3-01A-21D-A33T-08		5711843	53417140	37	14317											
OR7D4	125958	broad.mit.edu	37	chr19	9325026	9325026	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggagaaggtcaacctcttcAtcagtagaatatgaaccagg	14	9	10	8	0	4	3	3	1	1	2	4	4	4	3	2	3	2	1	2	3	6	3			TCGA-KC-A7F3-01A-21D-A33T-08	TCGA-KC-A7F3-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcdd04ee-ff3e-4fa3-8115-4c94b0af9170	45a165ad-d560-4ed7-87ac-056436c3d192	g.chr19:9325026A>C	ENST00000308682.2	-	1	516	c.488T>G	c.(487-489)aTg>aGg	p.M163R		NM_001005191.2	NP_001005191.1	Q8NG98	OR7D4_HUMAN	olfactory receptor, family 7, subfamily D, member 4	163						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)|skin(3)|stomach(1)	26						CAACCTCTTCATCAGTAGAAT	0.512																																						ENST00000308682.2																			0				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)|skin(3)|stomach(1)	26						c.(487-489)aTg>aGg		olfactory receptor, family 7, subfamily D, member 4							80	76	77					19																	9325026		2203	4300	6503	SO:0001583	missense	125958				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr19:9325026A>C		CCDS32901.1	19p13.2	2013-12-17		2004-03-10	ENSG00000174667	ENSG00000174667		"GPCR / Class A : Olfactory receptors"	8380	protein-coding gene	gene with protein product		611538		OR7D4P			Standard	NM_001005191		Approved	hg105, OR19-B	uc002mla.2	Q8NG98	OTTHUMG00000179936	ENST00000308682.2:c.488T>G	19.37:g.9325026A>C	ENSP00000310488:p.Met163Arg						p.M163R	NM_001005191.2	NP_001005191.1	Q8NG98	OR7D4_HUMAN			1	516	-			163					A8CAH8|A8CAH9|A8CAI0|A8CAI1|B9EH79	Missense_Mutation	SNP	ENST00000308682.2	37	c.488T>G	CCDS32901.1	.	.	.	.	.	.	.	.	.	.	A	13.17	2.158195	0.38119	.	.	ENSG00000174667	ENST00000308682	T	0.00054	8.8	3.76	2.74	0.32292	GPCR, rhodopsin-like superfamily (1);	0.610036	0.16524	N	0.210659	T	0.00328	0.0010	M	0.76170	2.325	0.09310	N	1	P	0.44816	0.844	P	0.54590	0.756	T	0.33497	-0.9866	10	0.87932	D	0	.	7.2516	0.26152	0.8888:0.0:0.1112:0.0	.	163	Q8NG98	OR7D4_HUMAN	R	163	ENSP00000310488:M163R	ENSP00000310488:M163R	M	-	2	0	OR7D4	9186026	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-0.044000	0.12023	0.644000	0.30656	0.358000	0.22013	ATG		0.512	OR7D4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449004.1			20	52	0	0	0	1	0	20	52					C	9325026	A	C	9325026	3	2	299	1	0	0	0	0	1	0	0	0	11220	217	8	5	454	5	OR7D4	19	9325026	Missense_Mutation	SNP	A	TCGA-KC-A7F3-01A-21D-A33T-08	3613183	9325026	49803957	38	14318											
ZNF254	9534	broad.mit.edu	37	chr19	24310294	24310294	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatgtgaagaatgtggcaaaTcttttagccaatcctcaacc	14	11	7	9	0	2	2	1	1	1	1	3	2	3	2	3	1	2	1	3	1	7	2	rs554981870		TCGA-KC-A7F3-01A-21D-A33T-08	TCGA-KC-A7F3-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcdd04ee-ff3e-4fa3-8115-4c94b0af9170	45a165ad-d560-4ed7-87ac-056436c3d192	g.chr19:24310294T>G	ENST00000357002.4	+	4	1607	c.1492T>G	c.(1492-1494)Tct>Gct	p.S498A	ZNF254_ENST00000342944.6_Missense_Mutation_p.S413A	NM_001278661.1|NM_001278662.1|NM_001278664.1|NM_001278677.1|NM_001278678.1|NM_203282.2	NP_001265590.1|NP_001265591.1|NP_001265593.1|NP_001265606.1|NP_001265607.1|NP_975011.3	O75437	ZN254_HUMAN	zinc finger protein 254	498					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)						all_cancers(12;0.086)|all_lung(12;0.00528)|Lung NSC(12;0.00731)|all_epithelial(12;0.0186)				ATGTGGCAAATCTTTTAGCCA	0.408																																						ENST00000357002.4																			0											c.(1492-1494)Tct>Gct		zinc finger protein 254							60	62	61					19																	24310294		2201	4297	6498	SO:0001583	missense	9534				negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:24310294T>G	AF054180	CCDS32983.1, CCDS62622.1, CCDS62623.1, CCDS74323.1, CCDS74324.1	19p13	2013-01-08				ENSG00000213096		"Zinc fingers, C2H2-type", "-"	13047	protein-coding gene	gene with protein product		604768	"zinc finger protein 539"	ZNF91L, ZNF539		9653160	Standard	NM_001278661		Approved	HD-ZNF1, BMZF-5	uc002nru.3	O75437		ENST00000357002.4:c.1492T>G	19.37:g.24310294T>G	ENSP00000349494:p.Ser498Ala					ZNF254_ENST00000342944.6_Missense_Mutation_p.S413A	p.S498A	NM_001278661.1|NM_001278662.1|NM_001278664.1|NM_001278677.1|NM_001278678.1|NM_203282.2	NP_001265590.1|NP_001265591.1|NP_001265593.1|NP_001265606.1|NP_001265607.1|NP_975011.3	O75437	ZN254_HUMAN			4	1607	+		all_cancers(12;0.086)|all_lung(12;0.00528)|Lung NSC(12;0.00731)|all_epithelial(12;0.0186)	498					A4QPC0|Q86XL7	Missense_Mutation	SNP	ENST00000357002.4	37	c.1492T>G	CCDS32983.1	.	.	.	.	.	.	.	.	.	.	T	0.001	-3.794782	0.00004	.	.	ENSG00000213096	ENST00000342944;ENST00000357002	T;T	0.35605	1.3;1.3	1.07	-0.329	0.12686	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.12689	0.0308	N	0.04686	-0.185	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.32322	-0.9911	9	0.02654	T	1	.	5.3479	0.16020	0.0:0.0:0.4143:0.5857	.	498	O75437	ZN254_HUMAN	A	413;498	ENSP00000445527:S413A;ENSP00000349494:S498A	ENSP00000445527:S413A	S	+	1	0	ZNF254	24102134	0.000000	0.05858	0.038000	0.18304	0.305000	0.27757	-1.126000	0.03254	-0.309000	0.08779	-0.762000	0.03455	TCT		0.408	ZNF254-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466453.1	NM_004876		3	70	0	0	0	1	0	3	70					G	24310294	T	G	24310294	3	3	299	1	0	0	0	0	1	0	0	0	17795	1435	50	5	1506	5	ZNF254	19	24310294	Missense_Mutation	SNP	T	TCGA-KC-A7F3-01A-21D-A33T-08	14985268	24310294	34818689	39	14319											
NLRP5	126206	broad.mit.edu	37	chr19	56515211	56515211	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ctcaccttttccagctacggGctgcaatggtgtctctatga	7	13	9	12	1	2	1	1	1	1	0	4	1	3	1	2	2	3	3	2	2	3	4			TCGA-KC-A7F3-01A-21D-A33T-08	TCGA-KC-A7F3-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcdd04ee-ff3e-4fa3-8115-4c94b0af9170	45a165ad-d560-4ed7-87ac-056436c3d192	g.chr19:56515211G>C	ENST00000390649.3	+	2	192	c.192G>C	c.(190-192)ggG>ggC	p.G64G		NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN	NLR family, pyrin domain containing 5	64	DAPIN. {ECO:0000255|PROSITE- ProRule:PRU00061}.				cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|embryo implantation (GO:0007566)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|neuron death (GO:0070997)|organ morphogenesis (GO:0009887)|regulation of protein stability (GO:0031647)|regulation of RNA stability (GO:0043487)	apical cortex (GO:0045179)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|protein complex (GO:0043234)	ATP binding (GO:0005524)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		CCAGCTACGGGCTGCAATGGT	0.428																																						ENST00000390649.3																			0				breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25						c.(190-192)ggG>ggC		NLR family, pyrin domain containing 5							112	105	107					19																	56515211		1872	4114	5986	SO:0001819	synonymous_variant	126206					mitochondrion|nucleolus	ATP binding	g.chr19:56515211G>C	AY154460	CCDS12938.1	19q13.43	2008-10-30	2006-12-08	2006-12-08	ENSG00000171487	ENSG00000171487		"Nucleotide-binding domain and leucine rich repeat containing"	21269	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 5"	609658	"NACHT, leucine rich repeat and PYD containing 5"	NALP5		12563287, 11925379	Standard	NM_153447		Approved	PYPAF8, MATER, PAN11, CLR19.8	uc002qmj.3	P59047	OTTHUMG00000149887	ENST00000390649.3:c.192G>C	19.37:g.56515211G>C							p.G64G	NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN		GBM - Glioblastoma multiforme(193;0.0326)	2	192	+		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)	64			DAPIN.		A8MTY4|Q86W29	Silent	SNP	ENST00000390649.3	37	c.192G>C	CCDS12938.1																																																																																				0.428	NLRP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313735.1	NM_153447		17	67	0	0	0	1	0	17	67					C	56515211	G	C	56515211	2	2	299	1	0	0	0	0	0	0	0	1	10480	1190	42	5		5	NLRP5	19	56515211	Silent	SNP	G	TCGA-KC-A7F3-01A-21D-A33T-08	32204917	56515211	2613772	40	14320											
MED12	9968	broad.mit.edu	37	chrX	70349258	70349258	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atggagccgtgtttgctgttCtcaaggctgtgtttgtactt	5	17	12	7	1	1	0	1	0	1	0	2	1	1	1	1	2	3	6	1	2	2	5			TCGA-KC-A7F3-01A-21D-A33T-08	TCGA-KC-A7F3-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcdd04ee-ff3e-4fa3-8115-4c94b0af9170	45a165ad-d560-4ed7-87ac-056436c3d192	g.chrX:70349258C>T	ENST00000374080.3	+	26	3702	c.3670C>T	c.(3670-3672)Ctc>Ttc	p.L1224F	MED12_ENST00000333646.6_Missense_Mutation_p.L1224F|MED12_ENST00000374102.1_Missense_Mutation_p.L1224F			Q93074	MED12_HUMAN	mediator complex subunit 12	1224					androgen receptor signaling pathway (GO:0030521)|axis elongation involved in somitogenesis (GO:0090245)|canonical Wnt signaling pathway (GO:0060070)|gene expression (GO:0010467)|heart development (GO:0007507)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|negative regulation of Wnt signaling pathway (GO:0030178)|neural tube closure (GO:0001843)|oligodendrocyte development (GO:0014003)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|Schwann cell development (GO:0014044)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein C-terminus binding (GO:0008022)|protein domain specific binding (GO:0019904)|receptor activity (GO:0004872)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II transcription cofactor activity (GO:0001104)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)	p.L1224F(10)|p.V1223>?(2)|p.L1224V(2)		breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					GTTTGCTGTTCTCAAGGCTGT	0.562			"M, S"		uterine leiomyoma		Opitz-Kaveggia Syndrome				OREG0019857	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000333646.6				Dom	yes		X	Xq13	9968	"M, S"	mediator complex subunit 12	Yes	Opitz-Kaveggia Syndrome	M			uterine leiomyoma		14	Substitution - Missense(12)|Complex(2)	p.L1224F(10)|p.V1223>?(2)|p.L1224V(2)	prostate(12)|lung(2)	breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420						c.(3670-3672)Ctc>Ttc		mediator complex subunit 12							49	51	51					X																	70349258		2086	4189	6275	SO:0001583	missense	9968				androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	g.chrX:70349258C>T	U80742	CCDS43970.1	Xq13	2011-02-14	2007-07-30	2004-11-26	ENSG00000184634	ENSG00000184634			11957	protein-coding gene	gene with protein product		300188	"trinucleotide repeat containing 11 (THR-associated protein, 230kDa subunit)", "mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)", "FG syndrome 1"	TNRC11, FGS1		9225980, 10198638, 17334363, 20507344	Standard	NM_005120		Approved	CAGH45, HOPA, OPA1, TRAP230, KIAA0192, OKS	uc004dyy.3	Q93074	OTTHUMG00000021788	ENST00000374080.3:c.3670C>T	X.37:g.70349258C>T	ENSP00000363193:p.Leu1224Phe		OREG0019857	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1121	MED12_ENST00000374102.1_Missense_Mutation_p.L1224F|MED12_ENST00000374080.3_Missense_Mutation_p.L1224F	p.L1224F	NM_005120.2	NP_005111.2	Q93074	MED12_HUMAN			26	3869	+	Renal(35;0.156)		1224					O15410|O75557|Q9UHV6|Q9UND7	Missense_Mutation	SNP	ENST00000374080.3	37	c.3670C>T	CCDS43970.1	.	.	.	.	.	.	.	.	.	.	.	20.2	3.946602	0.73672	.	.	ENSG00000184634	ENST00000333646;ENST00000536756;ENST00000374102;ENST00000374080;ENST00000430072	T;T;T;T	0.34472	1.36;1.36;1.36;1.36	5.09	5.09	0.68999	.	0.000000	0.85682	D	0.000000	T	0.61261	0.2333	M	0.72353	2.195	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.998;0.999;0.998	T	0.65100	-0.6250	10	0.87932	D	0	-17.5145	17.9253	0.88982	0.0:1.0:0.0:0.0	.	1224;1071;1224;1224	F5H3Y1;Q7Z3Z5;Q93074-3;Q93074	.;.;.;MED12_HUMAN	F	1224;1224;1224;1224;1192	ENSP00000333125:L1224F;ENSP00000363215:L1224F;ENSP00000363193:L1224F;ENSP00000414203:L1192F	ENSP00000333125:L1224F	L	+	1	0	MED12	70265983	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.474000	0.53129	2.509000	0.84616	0.529000	0.55759	CTC		0.562	MED12-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000057105.1	NM_005120		3	26	0	0	0	1	0	3	26					T	70349258	C	T	70349258	3	4	299	1	0	0	0	0	1	0	0	0	9428	913	32	3	3772	3	MED12	23	70349258	Missense_Mutation	SNP	C	TCGA-KC-A7F3-01A-21D-A33T-08		70349258	84921302	41	14321											
PDE4DIP	9659	broad.mit.edu	37	chr1	144881611	144881611	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagggtcacgaggctgggaCtggttatccaactgtgaaag	10	8	14	9	1	1	1	1	1	0	0	2	3	2	2	2	4	1	2	2	4	3	1			TCGA-KC-A7F5-01A-11D-A33T-08	TCGA-KC-A7F5-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18346a75-5c68-44ad-94d2-2c935cb2b87a	e883ecaa-298d-48b8-929a-0ce5fb7b476b	g.chr1:144881611C>T	ENST00000369354.3	-	25	3774	c.3585G>A	c.(3583-3585)caG>caA	p.Q1195Q	PDE4DIP_ENST00000369356.4_Silent_p.Q1195Q|PDE4DIP_ENST00000530740.1_Silent_p.Q1332Q|PDE4DIP_ENST00000369359.4_Silent_p.Q1332Q|PDE4DIP_ENST00000313382.9_Silent_p.Q1151Q|PDE4DIP_ENST00000524974.1_5'UTR			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	1195					cellular protein complex assembly (GO:0043623)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|myofibril (GO:0030016)|nucleus (GO:0005634)	enzyme binding (GO:0019899)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		GAGGCTGGGACTGGTTATCCA	0.582			T	PDGFRB	MPD																																	ENST00000369359.4				Dom	yes		1	1q12	9659	T	phosphodiesterase 4D interacting protein (myomegalin)			L	PDGFRB		MPD		0				NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176						c.(3994-3996)caG>caA		phosphodiesterase 4D interacting protein							83	75	78					1																	144881611		2203	4296	6499	SO:0001819	synonymous_variant	9659				cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding	g.chr1:144881611C>T	AB007923, AB007946	CCDS72887.1, CCDS72888.1, CCDS72889.1, CCDS72890.1, CCDS72891.1, CCDS72892.1, CCDS72893.1, CCDS72894.1	1q21.1	2008-07-31	2008-07-31		ENSG00000178104	ENSG00000178104			15580	protein-coding gene	gene with protein product	"myomegalin"	608117	"cardiomyopathy associated 2"	CMYA2		9455484, 11134006	Standard	NM_022359		Approved	KIAA0477, KIAA0454, MMGL	uc021ouh.1	Q5VU43	OTTHUMG00000013846	ENST00000369354.3:c.3585G>A	1.37:g.144881611C>T						PDE4DIP_ENST00000530740.1_Silent_p.Q1332Q|PDE4DIP_ENST00000524974.1_5'UTR|PDE4DIP_ENST00000369354.3_Silent_p.Q1195Q|PDE4DIP_ENST00000369356.4_Silent_p.Q1195Q|PDE4DIP_ENST00000313382.9_Silent_p.Q1151Q	p.Q1332Q			Q5VU43	MYOME_HUMAN		Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)	28	4034	-			1195					A2RU15|O75042|O75065|Q2YDC1|Q5VU42|Q5VU44|Q5VU45|Q5VU46|Q5VU47|Q5VU48|Q5VU49|Q68DU2|Q6AZ93|Q6PK88|Q86T40|Q86TB2|Q8N3W0|Q8TAY9|Q9HCP2|Q9HCP3|Q9HCP4|Q9HCP5	Silent	SNP	ENST00000369354.3	37	c.3996G>A	CCDS30824.1	.	.	.	.	.	.	.	.	.	.	C	0.469	-0.885246	0.02511	.	.	ENSG00000178104	ENST00000530592	.	.	.	5.65	3.75	0.43078	.	.	.	.	.	T	0.29256	0.0728	.	.	.	0.32684	N	0.515111	.	.	.	.	.	.	T	0.12553	-1.0543	4	.	.	.	.	8.6493	0.34025	0.0:0.8259:0.0:0.1741	.	.	.	.	I	90	.	.	V	-	1	0	PDE4DIP	143592968	0.000000	0.05858	0.118000	0.21660	0.026000	0.11368	-0.306000	0.08178	1.621000	0.50320	0.655000	0.94253	GTC		0.582	PDE4DIP-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000038858.2	NM_022359		15	66	0	0	0	1	0	15	66					T	144881611	C	T	144881611	2	4	300	1	0	0	0	0	0	0	0	1	11643	564	20	3		3	PDE4DIP	1	144881611	Silent	SNP	C	TCGA-KC-A7F5-01A-11D-A33T-08		144881611	104369010	1	14322											
FAM63A	55793	broad.mit.edu	37	chr1	150974945	150974945	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aagcttggtctgctggctccCgttctctagcctccccatca	5	12	8	16	1	3	0	1	0	2	0	6	0	5	0	4	2	3	4	4	2	2	3	rs201811445		TCGA-KC-A7F5-01A-11D-A33T-08	TCGA-KC-A7F5-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18346a75-5c68-44ad-94d2-2c935cb2b87a	e883ecaa-298d-48b8-929a-0ce5fb7b476b	g.chr1:150974945C>T	ENST00000361936.5	-	3	1103	c.149G>A	c.(148-150)cGg>cAg	p.R50Q	FAM63A_ENST00000493834.2_Intron|FAM63A_ENST00000361738.6_Missense_Mutation_p.R98Q|FAM63A_ENST00000470877.1_Intron|FAM63A_ENST00000312210.5_Intron	NM_018379.4	NP_060849	Q8N5J2	FA63A_HUMAN	family with sequence similarity 63, member A	50						extracellular vesicular exosome (GO:0070062)		p.R50Q(1)		breast(1)|endometrium(3)|large_intestine(4)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	23	all_lung(15;1.09e-34)|Lung NSC(24;1.1e-30)|Lung SC(34;0.00202)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			TGCTGGCTCCCGTTCTCTAGC	0.592													C|||	1	0.000199681	0	0	5008	,	,		18984	0.001		0	False		,,,				2504	0					ENST00000361936.5																			1	Substitution - Missense(1)	p.R50Q(1)	lung(1)	breast(1)|endometrium(3)|large_intestine(4)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	23						c.(148-150)cGg>cAg		family with sequence similarity 63, member A							109	100	103					1																	150974945		2203	4300	6503	SO:0001583	missense	55793						protein binding	g.chr1:150974945C>T	BC032321	CCDS976.1, CCDS30854.1, CCDS53361.1, CCDS55635.1	1q21.2	2008-02-05			ENSG00000143409	ENSG00000143409			25648	protein-coding gene	gene with protein product						10718198	Standard	NM_001040217		Approved	FLJ11280	uc010pcn.2	Q8N5J2	OTTHUMG00000035061	ENST00000361936.5:c.149G>A	1.37:g.150974945C>T	ENSP00000354814:p.Arg50Gln					FAM63A_ENST00000312210.5_Intron|FAM63A_ENST00000493834.2_Intron|FAM63A_ENST00000361738.6_Missense_Mutation_p.R98Q|FAM63A_ENST00000470877.1_Intron	p.R50Q	NM_018379.4	NP_060849.2	Q8N5J2	FA63A_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)		3	1103	-	all_lung(15;1.09e-34)|Lung NSC(24;1.1e-30)|Lung SC(34;0.00202)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		50					B3KWP4|B3KWV8|B4DXF2|B4E1S4|D3DV09|J3KP53|Q5SZF0|Q9NUL9|Q9P2F7	Missense_Mutation	SNP	ENST00000361936.5	37	c.149G>A	CCDS976.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	1.529	-0.544968	0.04024	.	.	ENSG00000143409	ENST00000361936;ENST00000361738	T;T	0.42131	1.05;0.98	5.18	1.23	0.21249	.	18.889900	0.03847	N	0.271629	T	0.04363	0.0120	N	0.02539	-0.55	0.09310	N	1	B;B	0.09022	0.0;0.002	B;B	0.01281	0.0;0.0	T	0.17592	-1.0364	10	0.11182	T	0.66	-3.4821	2.1479	0.03791	0.1517:0.0857:0.3141:0.4484	.	98;50	Q8N5J2-3;Q8N5J2	.;FA63A_HUMAN	Q	50;98	ENSP00000354814:R50Q;ENSP00000354669:R98Q	ENSP00000354669:R98Q	R	-	2	0	FAM63A	149241569	0.000000	0.05858	0.002000	0.10522	0.021000	0.10359	-0.312000	0.08113	0.066000	0.16515	-0.290000	0.09829	CGG		0.592	FAM63A-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411753.1	NM_018379		51	56	0	0	0	1	0	51	56					T	150974945	C	T	150974945	3	4	300	1	0	0	0	0	1	0	0	0	5596	652	23	2	1296	2	FAM63A	1	150974945	Missense_Mutation	SNP	C	TCGA-KC-A7F5-01A-11D-A33T-08	6093334	150974945	98275676	2	14323											
ASH1L	55870	broad.mit.edu	37	chr1	155448900	155448900	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgaggtaatcatgattcctgCgcttacatttgtgtttatgt	8	18	9	6	1	1	2	1	2	0	0	2	2	2	2	1	1	2	3	1	1	3	6	rs377320289		TCGA-KC-A7F5-01A-11D-A33T-08	TCGA-KC-A7F5-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18346a75-5c68-44ad-94d2-2c935cb2b87a	e883ecaa-298d-48b8-929a-0ce5fb7b476b	g.chr1:155448900C>A	ENST00000368346.3	-	3	4400	c.3761G>T	c.(3760-3762)cGc>cTc	p.R1254L	ASH1L_ENST00000392403.3_Missense_Mutation_p.R1254L			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	1254					cell-cell signaling (GO:0007267)|DNA packaging (GO:0006323)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|tight junction (GO:0005923)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			ATGATTCCTGCGCTTACATTT	0.393																																						ENST00000368346.3																			0				autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124						c.(3760-3762)cGc>cTc		ash1 (absent, small, or homeotic)-like (Drosophila)		C	LEU/ARG	0,4406		0,0,2203	179	188	185		3761	5.2	1	1		185	1,8599	1.2+/-3.3	0,1,4299	no	missense	ASH1L	NM_018489.2	102	0,1,6502	AA,AC,CC		0.0116,0.0,0.0077	probably-damaging	1254/2965	155448900	1,13005	2203	4300	6503	SO:0001583	missense	55870				cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|Golgi apparatus|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding	g.chr1:155448900C>A	AB037841	CCDS1113.2	1q22	2013-01-28			ENSG00000116539	ENSG00000116539		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	19088	protein-coding gene	gene with protein product		607999				10860993, 16545939	Standard	NM_018489		Approved	huASH1, ASH1, ASH1L1, KMT2H	uc001fkt.3	Q9NR48	OTTHUMG00000014011	ENST00000368346.3:c.3761G>T	1.37:g.155448900C>A	ENSP00000357330:p.Arg1254Leu					ASH1L_ENST00000392403.3_Missense_Mutation_p.R1254L	p.R1254L			Q9NR48	ASH1L_HUMAN	Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)		3	4400	-	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		1254					Q59GP1|Q5T714|Q5T715|Q9P2C7	Missense_Mutation	SNP	ENST00000368346.3	37	c.3761G>T		.	.	.	.	.	.	.	.	.	.	C	17.21	3.331305	0.60853	0.0	1.16E-4	ENSG00000116539	ENST00000368346;ENST00000392403	D;D	0.92199	-2.99;-2.99	5.16	5.16	0.70880	.	0.000000	0.85682	D	0.000000	D	0.89364	0.6694	N	0.24115	0.695	0.80722	D	1	D;D	0.60575	0.979;0.988	P;P	0.60286	0.748;0.872	D	0.90870	0.4745	10	0.72032	D	0.01	.	11.9182	0.52778	0.0:0.9201:0.0:0.0799	.	1254;1254	Q9NR48;Q9NR48-2	ASH1L_HUMAN;.	L	1254	ENSP00000357330:R1254L;ENSP00000376204:R1254L	ENSP00000357330:R1254L	R	-	2	0	ASH1L	153715524	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.933000	0.70130	2.700000	0.92200	0.585000	0.79938	CGC		0.393	ASH1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000039400.1	NM_018489		67	105	1	0	2.23399e-28	1	2.50643e-28	67	105					A	155448900	C	A	155448900	3	1	300	1	0	0	0	0	1	0	0	0	1041	768	27	5	5237	5	ASH1L	1	155448900	Missense_Mutation	SNP	C	TCGA-KC-A7F5-01A-11D-A33T-08	4473955	155448900	93801721	3	14324											
PAPPA2	60676	broad.mit.edu	37	chr1	176564577	176564577	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gctatgatgggggtgactgcCgcctgcagggccgctgctac	5	8	16	12	2	0	2	0	2	0	0	0	2	0	2	3	3	4	4	3	3	2	2			TCGA-KC-A7F5-01A-11D-A33T-08	TCGA-KC-A7F5-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18346a75-5c68-44ad-94d2-2c935cb2b87a	e883ecaa-298d-48b8-929a-0ce5fb7b476b	g.chr1:176564577C>T	ENST00000367662.3	+	3	3001	c.1837C>T	c.(1837-1839)Cgc>Tgc	p.R613C	PAPPA2_ENST00000367661.3_Missense_Mutation_p.R613C	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	613	Metalloprotease.				bone morphogenesis (GO:0060349)|cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|proteolysis (GO:0006508)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						GGGTGACTGCCGCCTGCAGGG	0.587																																						ENST00000367662.3																			0				NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						c.(1837-1839)Cgc>Tgc		pappalysin 2							69	75	73					1																	176564577		2099	4223	6322	SO:0001583	missense	60676				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding	g.chr1:176564577C>T	BG354569	CCDS41438.1, CCDS41439.1	1q23-q25	2008-05-23	2004-07-07	2004-07-09	ENSG00000116183	ENSG00000116183			14615	protein-coding gene	gene with protein product			"placenta-specific 3"	PLAC3		11018262, 11264294	Standard	NM_021936		Approved	PAPPE, PAPP-A2	uc001gkz.3	Q9BXP8	OTTHUMG00000035025	ENST00000367662.3:c.1837C>T	1.37:g.176564577C>T	ENSP00000356634:p.Arg613Cys					PAPPA2_ENST00000367661.3_Missense_Mutation_p.R613C	p.R613C	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN			3	3001	+			613			Metalloprotease.		A9Z1Y8|Q96PH7|Q96PH8|Q9H4C9	Missense_Mutation	SNP	ENST00000367662.3	37	c.1837C>T	CCDS41438.1	.	.	.	.	.	.	.	.	.	.	C	19.38	3.816244	0.70912	.	.	ENSG00000116183	ENST00000367662;ENST00000367661	D;D	0.91521	-2.86;-2.86	5.42	4.45	0.53987	Notch domain (2);	0.362810	0.29660	N	0.011526	D	0.91878	0.7429	L	0.34521	1.04	0.51767	D	0.99993	D;D	0.89917	1.0;1.0	D;D	0.75020	0.985;0.98	D	0.92430	0.5953	10	0.72032	D	0.01	-23.4467	13.9743	0.64262	0.0:0.7226:0.2774:0.0	.	613;613	Q9BXP8;A9Z1Y8	PAPP2_HUMAN;.	C	613	ENSP00000356634:R613C;ENSP00000356633:R613C	ENSP00000356633:R613C	R	+	1	0	PAPPA2	174831200	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	3.005000	0.49521	2.542000	0.85734	0.650000	0.86243	CGC		0.587	PAPPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084763.1			27	30	0	0	0	1	0	27	30					T	176564577	C	T	176564577	3	4	300	1	0	0	0	0	1	0	0	0	11433	652	23	2	1843	2	PAPPA2	1	176564577	Missense_Mutation	SNP	C	TCGA-KC-A7F5-01A-11D-A33T-08	21115677	176564577	72686044	4	14325											
SPRED2	200734	broad.mit.edu	37	chr2	65561891	65561891	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agaccaagtcctttcttacaTagcattccaataccacctga	13	11	4	13	0	1	2	0	1	1	1	3	2	3	2	5	0	3	1	5	0	5	5	rs556500338		TCGA-KC-A7F5-01A-11D-A33T-08	TCGA-KC-A7F5-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18346a75-5c68-44ad-94d2-2c935cb2b87a	e883ecaa-298d-48b8-929a-0ce5fb7b476b	g.chr2:65561891T>C	ENST00000356388.4	-	3	410	c.221A>G	c.(220-222)tAt>tGt	p.Y74C	SPRED2_ENST00000443619.2_Missense_Mutation_p.Y71C|SPRED2_ENST00000474228.1_5'UTR	NM_181784.2	NP_861449.2	Q7Z698	SPRE2_HUMAN	sprouty-related, EVH1 domain containing 2	74	WH1. {ECO:0000255|PROSITE- ProRule:PRU00410}.				inactivation of MAPK activity (GO:0000188)|multicellular organismal development (GO:0007275)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|regulation of protein deacetylation (GO:0090311)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|protein serine/threonine kinase inhibitor activity (GO:0030291)|stem cell factor receptor binding (GO:0005173)			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(7)|ovary(2)|upper_aerodigestive_tract(3)	34						CTTTCTTACATAGCATTCCAA	0.433																																						ENST00000356388.4																			0				breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(7)|ovary(2)|upper_aerodigestive_tract(3)	34						c.(220-222)tAt>tGt		sprouty-related, EVH1 domain containing 2							166	155	159					2																	65561891		2203	4300	6503	SO:0001583	missense	200734				inactivation of MAPK activity|multicellular organismal development	transport vesicle membrane	stem cell factor receptor binding	g.chr2:65561891T>C	AF052178	CCDS33211.1, CCDS46308.1	2p14	2003-06-02			ENSG00000198369	ENSG00000198369			17722	protein-coding gene	gene with protein product		609292					Standard	NM_181784		Approved	Spred-2, FLJ21897, FLJ31917	uc002sdr.4	Q7Z698	OTTHUMG00000152737	ENST00000356388.4:c.221A>G	2.37:g.65561891T>C	ENSP00000348753:p.Tyr74Cys					SPRED2_ENST00000443619.2_Missense_Mutation_p.Y71C|SPRED2_ENST00000474228.1_5'UTR	p.Y74C	NM_181784.2	NP_861449.2	Q7Z698	SPRE2_HUMAN			3	410	-			74			WH1.		A1L3V4|B7Z5K7|D6W5F7|E9PEP0|Q2NKX6	Missense_Mutation	SNP	ENST00000356388.4	37	c.221A>G	CCDS33211.1	.	.	.	.	.	.	.	.	.	.	T	12.57	1.978881	0.34942	.	.	ENSG00000198369	ENST00000356388;ENST00000443619;ENST00000452315;ENST00000421087;ENST00000440972	D;D;D;D;D	0.98585	-5.01;-5.01;-5.01;-5.01;-5.01	5.28	4.04	0.47022	EVH1 (2);Pleckstrin homology-type (1);	0.228496	0.45361	D	0.000369	D	0.96917	0.8993	N	0.22421	0.69	0.45464	D	0.998431	P;D	0.60575	0.878;0.988	P;P	0.61533	0.736;0.89	D	0.95745	0.8787	10	0.39692	T	0.17	-13.3629	10.4524	0.44531	0.2235:0.0:0.0:0.7765	.	71;74	E9PEP0;Q7Z698	.;SPRE2_HUMAN	C	74;71;89;6;74	ENSP00000348753:Y74C;ENSP00000393697:Y71C;ENSP00000390595:Y89C;ENSP00000407627:Y6C;ENSP00000406481:Y74C	ENSP00000348753:Y74C	Y	-	2	0	SPRED2	65415395	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.831000	0.48144	1.999000	0.58509	0.533000	0.62120	TAT		0.433	SPRED2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000327632.1			57	46	0	0	0	1	0	57	46					C	65561891	T	C	65561891	3	2	300	1	0	0	0	0	1	0	0	0	15092	1406	49	4	1051	4	SPRED2	2	65561891	Missense_Mutation	SNP	T	TCGA-KC-A7F5-01A-11D-A33T-08		65561891	177637482	5	14326											
XIRP2	129446	broad.mit.edu	37	chr2	168099892	168099892	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tgtttgaaacaaggccattgGactcaatgaataaaatgcat	16	11	8	6	0	1	2	1	2	0	0	1	3	1	3	1	2	2	2	1	2	6	3			TCGA-KC-A7F5-01A-11D-A33T-08	TCGA-KC-A7F5-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18346a75-5c68-44ad-94d2-2c935cb2b87a	e883ecaa-298d-48b8-929a-0ce5fb7b476b	g.chr2:168099892G>A	ENST00000409195.1	+	9	2079	c.1990G>A	c.(1990-1992)Gac>Aac	p.D664N	XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.D664N|XIRP2_ENST00000409273.1_Missense_Mutation_p.D442N|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000420519.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	489					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						AAGGCCATTGGACTCAATGAA	0.428																																						ENST00000409195.1																			0				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						c.(1990-1992)Gac>Aac		xin actin-binding repeat containing 2							75	71	72					2																	168099892		1906	4138	6044	SO:0001583	missense	129446				actin cytoskeleton organization	cell junction	actin binding	g.chr2:168099892G>A	AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"myomaxin"	609778	"cardiomyopathy associated 3"	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409195.1:c.1990G>A	2.37:g.168099892G>A	ENSP00000386840:p.Asp664Asn					XIRP2_ENST00000295237.9_Missense_Mutation_p.D664N|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.D442N|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409043.1_Intron	p.D664N	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN			9	2079	+			489					A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Missense_Mutation	SNP	ENST00000409195.1	37	c.1990G>A	CCDS42769.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.268433	0.80469	.	.	ENSG00000163092	ENST00000409195;ENST00000295237;ENST00000409273	T;T;T	0.09073	3.04;3.04;3.02	5.93	5.93	0.95920	.	0.047758	0.85682	D	0.000000	T	0.31358	0.0794	M	0.80422	2.495	0.53005	D	0.999963	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.73708	0.957;0.967;0.981	T	0.01030	-1.1475	10	0.87932	D	0	-16.5015	15.4228	0.75025	0.068:0.0:0.932:0.0	.	489;489;442	A4UGR9;A4UGR9-3;A4UGR9-2	XIRP2_HUMAN;.;.	N	664;664;442	ENSP00000386840:D664N;ENSP00000295237:D664N;ENSP00000387255:D442N	ENSP00000295237:D664N	D	+	1	0	XIRP2	167808138	1.000000	0.71417	0.291000	0.24904	0.961000	0.63080	4.650000	0.61440	2.814000	0.96858	0.655000	0.94253	GAC		0.428	XIRP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333547.1	NM_152381		37	53	0	0	0	1	0	37	53					A	168099892	G	A	168099892	3	1	300	1	0	0	0	0	1	0	0	0	17427	1174	41	3	2020	3	XIRP2	2	168099892	Missense_Mutation	SNP	G	TCGA-KC-A7F5-01A-11D-A33T-08	102538001	168099892	75099481	6	14327											
KLF7	8609	broad.mit.edu	37	chr2	207988820	207988820	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agctcaggggacgatgggggCgttaatgaggtcactgcgtt	8	9	17	7	3	2	1	2	1	0	0	2	3	2	2	0	5	2	3	0	5	1	2			TCGA-KC-A7F5-01A-11D-A33T-08	TCGA-KC-A7F5-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18346a75-5c68-44ad-94d2-2c935cb2b87a	e883ecaa-298d-48b8-929a-0ce5fb7b476b	g.chr2:207988820C>T	ENST00000309446.6	-	2	787	c.411G>A	c.(409-411)acG>acA	p.T137T	KLF7_ENST00000458272.1_Intron|KLF7_ENST00000412414.2_Silent_p.T109T|KLF7_ENST00000467833.1_Intron|KLF7_ENST00000421199.1_Silent_p.T104T|KLF7-IT1_ENST00000428777.1_RNA|KLF7_ENST00000423015.1_Silent_p.T137T	NM_003709.3	NP_003700.1	O75840	KLF7_HUMAN	Kruppel-like factor 7 (ubiquitous)	137					axon guidance (GO:0007411)|dendrite morphogenesis (GO:0048813)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|large_intestine(3)|liver(1)|lung(4)|skin(1)	11				LUSC - Lung squamous cell carcinoma(261;0.0856)|Lung(261;0.166)|Epithelial(149;0.173)		ACGATGGGGGCGTTAATGAGG	0.587																																						ENST00000309446.6																			0				breast(1)|central_nervous_system(1)|large_intestine(3)|liver(1)|lung(4)|skin(1)	11						c.(409-411)acG>acA		Kruppel-like factor 7 (ubiquitous)							74	72	73					2																	207988820		2203	4300	6503	SO:0001819	synonymous_variant	8609				regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|zinc ion binding	g.chr2:207988820C>T	AB015132	CCDS2373.1, CCDS59438.1, CCDS59439.1, CCDS59440.1	2q32	2013-01-08			ENSG00000118263	ENSG00000118263		"Kruppel-like transcription factors", "Zinc fingers, C2H2-type"	6350	protein-coding gene	gene with protein product		604865				9774444	Standard	NM_003709		Approved	UKLF	uc010zix.2	O75840	OTTHUMG00000132935	ENST00000309446.6:c.411G>A	2.37:g.207988820C>T						KLF7_ENST00000467833.1_Intron|KLF7_ENST00000458272.1_Intron|KLF7_ENST00000421199.1_Silent_p.T104T|KLF7_ENST00000412414.2_Silent_p.T109T|KLF7_ENST00000423015.1_Silent_p.T137T	p.T137T	NM_003709.3	NP_003700.1	O75840	KLF7_HUMAN		LUSC - Lung squamous cell carcinoma(261;0.0856)|Lung(261;0.166)|Epithelial(149;0.173)	2	787	-			137					B2RB03|B7Z4F7|C9JF04|E7EWH1|L0R4P2|Q7Z3H8|Q96E51	Silent	SNP	ENST00000309446.6	37	c.411G>A	CCDS2373.1																																																																																				0.587	KLF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256466.2	NM_003709		19	35	0	0	0	1	0	19	35					T	207988820	C	T	207988820	2	4	300	1	0	0	0	0	0	0	0	1	8351	755	27	1		1	KLF7	2	207988820	Silent	SNP	C	TCGA-KC-A7F5-01A-11D-A33T-08	39888928	207988820	35210553	7	14328											
C2orf62	375307	broad.mit.edu	37	chr2	219232553	219232553	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgcgccagccggaggacgtgGtcaccttcgccgccgagttc	5	7	14	15	6	1	0	1	0	0	0	3	3	1	2	5	3	2	1	5	3	0	2			TCGA-KC-A7F5-01A-11D-A33T-08	TCGA-KC-A7F5-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18346a75-5c68-44ad-94d2-2c935cb2b87a	e883ecaa-298d-48b8-929a-0ce5fb7b476b	g.chr2:219232553G>C	ENST00000289388.3	+	10	1059	c.1030G>C	c.(1030-1032)Gtc>Ctc	p.V344L	AC021016.6_ENST00000441749.1_RNA|C2orf62_ENST00000481940.1_3'UTR	NM_198559.1	NP_940961.1	Q7Z7H3	CATIP_HUMAN		344					actin filament polymerization (GO:0030041)|cilium organization (GO:0044782)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				endometrium(4)|kidney(2)|large_intestine(4)|lung(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	16		Renal(207;0.0915)		Epithelial(149;8.08e-07)|all cancers(144;0.000146)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GGAGGACGTGGTCACCTTCGC	0.701																																						ENST00000289388.3																			0				endometrium(4)|kidney(2)|large_intestine(4)|lung(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	16						c.(1030-1032)Gtc>Ctc		chromosome 2 open reading frame 62							30	32	31					2																	219232553		2199	4296	6495	SO:0001583	missense	375307							g.chr2:219232553G>C																												ENST00000289388.3:c.1030G>C	2.37:g.219232553G>C	ENSP00000289388:p.Val344Leu					AC021016.6_ENST00000441749.1_RNA|C2orf62_ENST00000481940.1_3'UTR	p.V344L	NM_198559.1	NP_940961.1	Q7Z7H3	CB062_HUMAN		Epithelial(149;8.08e-07)|all cancers(144;0.000146)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	10	1059	+		Renal(207;0.0915)	344						Missense_Mutation	SNP	ENST00000289388.3	37	c.1030G>C	CCDS2414.1	.	.	.	.	.	.	.	.	.	.	G	16.93	3.256811	0.59321	.	.	ENSG00000158428	ENST00000289388	.	.	.	4.61	2.79	0.32731	.	0.272984	0.34932	N	0.003571	T	0.29945	0.0749	L	0.35593	1.075	0.30989	N	0.721613	P	0.40180	0.705	B	0.38264	0.269	T	0.24512	-1.0158	9	0.48119	T	0.1	-0.0184	8.995	0.36048	0.254:0.0:0.746:0.0	.	344	Q7Z7H3	CB062_HUMAN	L	344	.	ENSP00000289388:V344L	V	+	1	0	C2orf62	218940797	0.994000	0.37717	1.000000	0.80357	0.847000	0.48162	0.485000	0.22324	0.370000	0.24538	0.561000	0.74099	GTC		0.701	C2orf62-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256771.1			7	25	0	0	0	1	0	7	25					C	219232553	G	C	219232553	3	2	300	1	0	0	0	0	1	0	0	0	2181	1261	44	5	1068	5	C2orf62	2	219232553	Missense_Mutation	SNP	G	TCGA-KC-A7F5-01A-11D-A33T-08	11243733	219232553	23966820	8	14329											
PLCXD2	257068	broad.mit.edu	37	chr3	111564682	111564682	+	3'UTR	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgcaggctggcactgatccCagtttatcctttgagattca	8	13	10	10	0	1	2	1	2	0	1	3	3	3	2	2	2	1	4	2	2	1	4			TCGA-KC-A7F5-01A-11D-A33T-08	TCGA-KC-A7F5-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18346a75-5c68-44ad-94d2-2c935cb2b87a	e883ecaa-298d-48b8-929a-0ce5fb7b476b	g.chr3:111564682C>A	ENST00000477665.1	+	0	1290				PLCXD2_ENST00000393934.3_Missense_Mutation_p.P294Q|PHLDB2_ENST00000393923.3_5'UTR	NM_001185106.1	NP_001172035.1	Q0VAA5	PLCX2_HUMAN	phosphatidylinositol-specific phospholipase C, X domain containing 2						lipid catabolic process (GO:0016042)		phosphoric diester hydrolase activity (GO:0008081)|signal transducer activity (GO:0004871)			endometrium(1)|large_intestine(5)|lung(9)|prostate(1)|skin(1)	17						GCACTGATCCCAGTTTATCCT	0.463																																						ENST00000393934.3																			0				endometrium(1)|large_intestine(5)|lung(9)|prostate(1)|skin(1)	17						c.(880-882)cCa>cAa		phosphatidylinositol-specific phospholipase C, X domain containing 2							185	168	174					3																	111564682		2203	4300	6503	SO:0001624	3_prime_UTR_variant	257068				intracellular signal transduction|lipid catabolic process		phospholipase C activity|signal transducer activity	g.chr3:111564682C>A	AK056141	CCDS2961.1, CCDS54619.1	3q13.2	2004-09-09			ENSG00000240891	ENSG00000240891			26462	protein-coding gene	gene with protein product							Standard	NM_001185106		Approved	FLJ31579	uc003dxz.3	Q0VAA5	OTTHUMG00000159279	ENST00000477665.1:c.*48C>A	3.37:g.111564682C>A						PLCXD2_ENST00000477665.1_3'UTR|PHLDB2_ENST00000393923.3_5'UTR	p.P294Q	NM_153268.3	NP_695000.1	Q0VAA5	PLCX2_HUMAN			4	1451	+			0					Q96N12	Missense_Mutation	SNP	ENST00000477665.1	37	c.881C>A	CCDS54619.1	.	.	.	.	.	.	.	.	.	.	C	4.000	-0.002776	0.07819	.	.	ENSG00000240891	ENST00000393934	.	.	.	4.25	3.38	0.38709	.	.	.	.	.	T	0.38214	0.1032	.	.	.	0.38536	D	0.949097	B	0.31859	0.343	B	0.28709	0.093	T	0.35201	-0.9798	7	0.39692	T	0.17	.	8.1689	0.31243	0.0:0.8924:0.0:0.1076	.	294	Q0VAA5-2	.	Q	294	.	ENSP00000377511:P294Q	P	+	2	0	PLCXD2	113047372	0.001000	0.12720	0.417000	0.26559	0.031000	0.12232	0.534000	0.23098	1.395000	0.46643	0.561000	0.74099	CCA		0.463	PLCXD2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000354322.1	NM_153268		48	68	1	0	1.11015e-26	1	1.21588e-26	48	68					A	111564682	C	A	111564682	1	1	300	0	1	0	0	0	0	0	0	0	12042	594	21	5		5	PLCXD2	3	111564682	3'UTR	SNP	C	TCGA-KC-A7F5-01A-11D-A33T-08		111564682	86457748	9	14330											
C4orf46	201725	broad.mit.edu	37	chr4	159592815	159592815	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagctggtccaccgttgggcCgctgctcctgctcggaactg	4	9	13	15	3	0	0	0	0	0	0	3	1	2	1	4	3	4	5	4	3	1	1			TCGA-KC-A7F5-01A-11D-A33T-08	TCGA-KC-A7F5-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18346a75-5c68-44ad-94d2-2c935cb2b87a	e883ecaa-298d-48b8-929a-0ce5fb7b476b	g.chr4:159592815C>A	ENST00000379205.4	-	1	383	c.139G>T	c.(139-141)Ggc>Tgc	p.G47C	ETFDH_ENST00000511912.1_5'Flank|C4orf46_ENST00000508457.1_Missense_Mutation_p.G47C|C4orf46_ENST00000508836.1_Intron|ETFDH_ENST00000307738.5_5'Flank	NM_001008393.2	NP_001008394.1	Q504U0	CD046_HUMAN	chromosome 4 open reading frame 46	47										kidney(1)|lung(3)|skin(1)	5						ACCGTTGGGCCGCTGCTCCTG	0.687																																						ENST00000379205.4																			0				kidney(1)|lung(3)|skin(1)	5						c.(139-141)Ggc>Tgc		chromosome 4 open reading frame 46							33	28	30					4																	159592815		2203	4300	6503	SO:0001583	missense	201725							g.chr4:159592815C>A		CCDS34088.1	4q32.1	2014-07-30			ENSG00000205208	ENSG00000205208			27320	protein-coding gene	gene with protein product	"renal cancer differentiation gene 1"						Standard	NM_001008393		Approved	LOC201725, RCDG1	uc003iqa.3	Q504U0	OTTHUMG00000161919	ENST00000379205.4:c.139G>T	4.37:g.159592815C>A	ENSP00000368503:p.Gly47Cys					C4orf46_ENST00000508836.1_Intron|C4orf46_ENST00000508457.1_Missense_Mutation_p.G47C	p.G47C	NM_001008393.2	NP_001008394.1	Q504U0	CD046_HUMAN			1	383	-			47					B3KNH7	Missense_Mutation	SNP	ENST00000379205.4	37	c.139G>T	CCDS34088.1	.	.	.	.	.	.	.	.	.	.	C	12.24	1.878874	0.33162	.	.	ENSG00000205208	ENST00000379205;ENST00000508457	.	.	.	3.93	-1.51	0.08664	.	0.868550	0.09821	N	0.751457	T	0.18593	0.0446	N	0.19112	0.55	0.09310	N	1	B	0.12630	0.006	B	0.13407	0.009	T	0.27806	-1.0063	9	0.72032	D	0.01	.	0.9501	0.01374	0.1623:0.2693:0.159:0.4093	.	47	Q504U0	CD046_HUMAN	C	47	.	ENSP00000368503:G47C	G	-	1	0	C4orf46	159812265	0.000000	0.05858	0.000000	0.03702	0.068000	0.16541	-0.756000	0.04777	-0.156000	0.11079	0.563000	0.77884	GGC		0.687	C4orf46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366378.1	NM_001008393		3	22	1	0	1	1	1	3	22					A	159592815	C	A	159592815	3	1	300	1	0	0	0	0	1	0	0	0	2274	652	23	5	210	5	C4orf46	4	159592815	Missense_Mutation	SNP	C	TCGA-KC-A7F5-01A-11D-A33T-08		159592815	31561461	10	14331											
CCDC110	256309	broad.mit.edu	37	chr4	186380216	186380216	+	Nonsense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atatttactaattattttttTaaattctttaagacactctt	13	22	1	5	0	2	1	0	0	2	1	2	1	2	1	0	0	1	0	0	0	7	13			TCGA-KC-A7F5-01A-11D-A33T-08	TCGA-KC-A7F5-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18346a75-5c68-44ad-94d2-2c935cb2b87a	e883ecaa-298d-48b8-929a-0ce5fb7b476b	g.chr4:186380216T>A	ENST00000307588.3	-	6	1600	c.1525A>T	c.(1525-1527)Aaa>Taa	p.K509*	CCDC110_ENST00000510617.1_Nonsense_Mutation_p.K509*|CCDC110_ENST00000507501.1_5'Flank|CCDC110_ENST00000393540.3_Nonsense_Mutation_p.K472*	NM_152775.3	NP_689988.1	Q8TBZ0	CC110_HUMAN	coiled-coil domain containing 110	509						nucleus (GO:0005634)				NS(1)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(9)	30		all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;7.86e-05)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|Colorectal(36;0.0381)|all_hematologic(60;0.0749)		OV - Ovarian serous cystadenocarcinoma(60;1.13e-10)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.00014)|STAD - Stomach adenocarcinoma(60;0.000777)|LUSC - Lung squamous cell carcinoma(40;0.00921)|COAD - Colon adenocarcinoma(29;0.0105)|READ - Rectum adenocarcinoma(43;0.164)		attatttttttaaattCTTTA	0.279																																						ENST00000307588.3																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(9)	30						c.(1525-1527)Aaa>Taa		coiled-coil domain containing 110							22	22	22					4																	186380216		2139	4246	6385	SO:0001587	stop_gained	256309					nucleus		g.chr4:186380216T>A	AB080722	CCDS3843.1, CCDS47170.1	4q35.1	2010-12-24			ENSG00000168491	ENSG00000168491			28504	protein-coding gene	gene with protein product	"cancer/testis antigen 52"	609488				18160854	Standard	NM_152775		Approved	KM-HN-1, MGC33607, CT52	uc003ixu.4	Q8TBZ0	OTTHUMG00000160415	ENST00000307588.3:c.1525A>T	4.37:g.186380216T>A	ENSP00000306776:p.Lys509*					CCDC110_ENST00000510617.1_Nonsense_Mutation_p.K509*|CCDC110_ENST00000393540.3_Nonsense_Mutation_p.K472*	p.K509*	NM_152775.3	NP_689988.1	Q8TBZ0	CC110_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.13e-10)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.00014)|STAD - Stomach adenocarcinoma(60;0.000777)|LUSC - Lung squamous cell carcinoma(40;0.00921)|COAD - Colon adenocarcinoma(29;0.0105)|READ - Rectum adenocarcinoma(43;0.164)	6	1600	-		all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;7.86e-05)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|Colorectal(36;0.0381)|all_hematologic(60;0.0749)	509					Q86YI9|Q8N7W0	Nonsense_Mutation	SNP	ENST00000307588.3	37	c.1525A>T	CCDS3843.1	.	.	.	.	.	.	.	.	.	.	T	16.34	3.096573	0.56075	.	.	ENSG00000168491	ENST00000393540;ENST00000307588;ENST00000510617	.	.	.	5.85	3.42	0.39159	.	0.342483	0.25717	N	0.028765	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-23.0255	6.2013	0.20577	0.1432:0.0758:0.0:0.781	.	.	.	.	X	472;509;509	.	ENSP00000306776:K509X	K	-	1	0	CCDC110	186617210	0.996000	0.38824	0.065000	0.19835	0.006000	0.05464	2.816000	0.48026	1.006000	0.39211	-0.336000	0.08194	AAA		0.279	CCDC110-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000360519.2	NM_152775		21	31	0	0	0	1	0	21	31					A	186380216	T	A	186380216	4	1	300	1	0	0	0	0	0	1	0	0	2747	1763	61	5	984	5	CCDC110	4	186380216	Nonsense_Mutation	SNP	T	TCGA-KC-A7F5-01A-11D-A33T-08	26787401	186380216	4774060	11	14332											
ZNF366	167465	broad.mit.edu	37	chr5	71752404	71752404	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcccgcccacaaatcccacActtatgctccttcacaccct	9	9	2	21	1	1	0	1	0	0	0	4	0	4	0	5	0	1	1	5	0	2	2			TCGA-KC-A7F5-01A-11D-A33T-08	TCGA-KC-A7F5-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18346a75-5c68-44ad-94d2-2c935cb2b87a	e883ecaa-298d-48b8-929a-0ce5fb7b476b	g.chr5:71752404A>T	ENST00000318442.5	-	3	1841	c.1351T>A	c.(1351-1353)Tgt>Agt	p.C451S		NM_152625.1	NP_689838.1	Q8N895	ZN366_HUMAN	zinc finger protein 366	451					negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|estrogen receptor binding (GO:0030331)|metal ion binding (GO:0046872)|transcription corepressor activity (GO:0003714)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	35		Lung NSC(167;0.0247)|Ovarian(174;0.0908)|Prostate(461;0.155)		OV - Ovarian serous cystadenocarcinoma(47;2.51e-53)		CAAATCCCACACTTATGCTCC	0.512																																						ENST00000318442.5																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	35						c.(1351-1353)Tgt>Agt		zinc finger protein 366							188	165	173					5																	71752404		2203	4300	6503	SO:0001583	missense	0				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr5:71752404A>T	AK097115	CCDS4015.1	5q13.1	2013-01-08			ENSG00000178175	ENSG00000178175		"Zinc fingers, C2H2-type"	18316	protein-coding gene	gene with protein product		610159					Standard	NM_152625		Approved	FLJ39796	uc003kce.1	Q8N895	OTTHUMG00000100965	ENST00000318442.5:c.1351T>A	5.37:g.71752404A>T	ENSP00000313158:p.Cys451Ser						p.C451S	NM_152625.1	NP_689838.1	Q8N895	ZN366_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;2.51e-53)	3	1841	-		Lung NSC(167;0.0247)|Ovarian(174;0.0908)|Prostate(461;0.155)	451					Q5HYI9|Q7RTV4	Missense_Mutation	SNP	ENST00000318442.5	37	c.1351T>A	CCDS4015.1	.	.	.	.	.	.	.	.	.	.	A	18.97	3.736213	0.69189	.	.	ENSG00000178175	ENST00000318442	D	0.99974	-10.2	5.67	5.67	0.87782	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.073634	0.64402	N	0.000015	D	0.99984	0.9995	H	0.97783	4.075	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.98891	1.0773	10	0.87932	D	0	-7.3871	15.951	0.79840	1.0:0.0:0.0:0.0	.	451	Q8N895	ZN366_HUMAN	S	451	ENSP00000313158:C451S	ENSP00000313158:C451S	C	-	1	0	ZNF366	71788160	1.000000	0.71417	0.987000	0.45799	0.977000	0.68977	9.339000	0.96797	2.177000	0.69029	0.477000	0.44152	TGT		0.512	ZNF366-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218574.3			31	67	0	0	0	1	0	31	67					T	71752404	A	T	71752404	3	4	300	1	0	0	0	0	1	0	0	0	17867	159	6	5	895	5	ZNF366	5	71752404	Missense_Mutation	SNP	A	TCGA-KC-A7F5-01A-11D-A33T-08		71752404	109162856	12	14333											
NOX3	50508	broad.mit.edu	37	chr6	155761204	155761204	+	Frame_Shift_Del	DEL	A	A	-																															ttgacgaggtcatgatcaagActaaagccagagagatcacc																										TCGA-KC-A7F5-01A-11D-A33T-08	TCGA-KC-A7F5-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18346a75-5c68-44ad-94d2-2c935cb2b87a	e883ecaa-298d-48b8-929a-0ce5fb7b476b	g.chr6:155761204delA	ENST00000159060.2	-	6	656	c.554delT	c.(553-555)gtcfs	p.V185fs		NM_015718.2	NP_056533.1	Q9HBY0	NOX3_HUMAN	NADPH oxidase 3	185	Ferric oxidoreductase.				detection of gravity (GO:0009590)|otolith development (GO:0048840)|superoxide anion generation (GO:0042554)|temperature homeostasis (GO:0001659)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|NADPH oxidase complex (GO:0043020)	superoxide-generating NADPH oxidase activity (GO:0016175)			cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	45		Breast(66;0.0183)		OV - Ovarian serous cystadenocarcinoma(155;2.18e-12)|BRCA - Breast invasive adenocarcinoma(81;0.00815)		CATGATCAAGACTAAAGCCAG	0.438																																						ENST00000159060.2																			0				cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	45						c.(553-555)gcfs		NADPH oxidase 3							145	134	138					6																	155761204		2203	4300	6503	SO:0001589	frameshift_variant	50508						electron carrier activity|flavin adenine dinucleotide binding|iron ion binding	g.chr6:155761204delA	AF190122	CCDS5250.1	6q25.3	2008-05-15			ENSG00000074771	ENSG00000074771			7890	protein-coding gene	gene with protein product		607105				11376945	Standard	NM_015718		Approved	GP91-3	uc003qqm.3	Q9HBY0	OTTHUMG00000015883	ENST00000159060.2:c.554delT	6.37:g.155761204delA	ENSP00000159060:p.Val185fs						p.V185fs	NM_015718.2	NP_056533.1	Q9HBY0	NOX3_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;2.18e-12)|BRCA - Breast invasive adenocarcinoma(81;0.00815)	6	656	-		Breast(66;0.0183)	185			Ferric oxidoreductase.		Q9HBJ9	Frame_Shift_Del	DEL	ENST00000159060.2	37	c.554delT	CCDS5250.1																																																																																				0.438	NOX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042819.1			21	36						21	36	---	---	---	---	-	155761204	A	-	155761204	7	5	300	1	0	1	0	1	0	0	0	0	10557	275	10	0	1184	0	NOX3	6	155761204	Frame_Shift_Del	DEL	A	TCGA-KC-A7F5-01A-11D-A33T-08		155761204	15353863	13	14334											
PRDM14	63978	broad.mit.edu	37	chr8	70981644	70981644	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aagcatccgcagggggcggtGgaattaaagtgtcaggtcca	11	7	15	8	2	1	0	1	0	0	0	3	1	3	1	2	5	1	2	2	5	4	1			TCGA-KC-A7F5-01A-11D-A33T-08	TCGA-KC-A7F5-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18346a75-5c68-44ad-94d2-2c935cb2b87a	e883ecaa-298d-48b8-929a-0ce5fb7b476b	g.chr8:70981644G>A	ENST00000276594.2	-	2	653	c.452C>T	c.(451-453)cCa>cTa	p.P151L		NM_024504.3	NP_078780.1	Q9GZV8	PRD14_HUMAN	PR domain containing 14	151					cell fate specification (GO:0001708)|cell morphogenesis (GO:0000902)|fertilization (GO:0009566)|germ cell development (GO:0007281)|germ-line stem cell maintenance (GO:0030718)|histone H3-R26 methylation (GO:0034972)|homeostasis of number of cells within a tissue (GO:0048873)|inner cell mass cell fate commitment (GO:0001827)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|regulation of DNA methylation (GO:0044030)|regulation of gene expression, epigenetic (GO:0040029)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)			NS(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Breast(64;0.193)		Epithelial(68;0.00508)|all cancers(69;0.0259)|OV - Ovarian serous cystadenocarcinoma(28;0.0405)			AGGGGGCGGTGGAATTAAAGT	0.577																																					NSCLC(129;99 1813 5906 40656 46114)	ENST00000276594.2																			0				NS(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(451-453)cCa>cTa		PR domain containing 14							62	59	60					8																	70981644		2203	4300	6503	SO:0001583	missense	63978				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr8:70981644G>A	AF319458	CCDS6206.1	8q13.3	2013-01-08			ENSG00000147596	ENSG00000147596		"Zinc fingers, C2H2-type"	14001	protein-coding gene	gene with protein product		611781					Standard	NM_024504		Approved		uc003xym.3	Q9GZV8	OTTHUMG00000150495	ENST00000276594.2:c.452C>T	8.37:g.70981644G>A	ENSP00000276594:p.Pro151Leu						p.P151L	NM_024504.3	NP_078780.1	Q9GZV8	PRD14_HUMAN	Epithelial(68;0.00508)|all cancers(69;0.0259)|OV - Ovarian serous cystadenocarcinoma(28;0.0405)		2	653	-	Breast(64;0.193)		151					Q86UX9	Missense_Mutation	SNP	ENST00000276594.2	37	c.452C>T	CCDS6206.1	.	.	.	.	.	.	.	.	.	.	G	10.03	1.239256	0.22711	.	.	ENSG00000147596	ENST00000276594	T	0.10668	2.85	5.26	0.602	0.17535	.	0.855289	0.10576	N	0.658594	T	0.04227	0.0117	N	0.12746	0.255	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.44467	-0.9326	10	0.02654	T	1	-0.4164	4.3816	0.11297	0.2047:0.0:0.5114:0.2838	.	151	Q9GZV8	PRD14_HUMAN	L	151	ENSP00000276594:P151L	ENSP00000276594:P151L	P	-	2	0	PRDM14	71144198	0.317000	0.24589	0.001000	0.08648	0.341000	0.28922	0.432000	0.21461	-0.076000	0.12775	0.655000	0.94253	CCA		0.577	PRDM14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318505.1			46	32	0	0	0	1	0	46	32					A	70981644	G	A	70981644	3	1	300	1	0	0	0	0	1	0	0	0	12455	1348	47	3	1291	3	PRDM14	8	70981644	Missense_Mutation	SNP	G	TCGA-KC-A7F5-01A-11D-A33T-08		70981644	75382378	14	14335											
VPS13B	157680	broad.mit.edu	37	chr8	100026096	100026096	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttaaagccgtcggatctacAgctttcactatggggtggag	9	11	12	9	2	2	0	1	0	1	0	3	2	2	2	1	4	3	1	1	4	4	4			TCGA-KC-A7F5-01A-11D-A33T-08	TCGA-KC-A7F5-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18346a75-5c68-44ad-94d2-2c935cb2b87a	e883ecaa-298d-48b8-929a-0ce5fb7b476b	g.chr8:100026096A>G	ENST00000358544.2	+	2	191	c.80A>G	c.(79-81)cAg>cGg	p.Q27R	VPS13B_ENST00000441350.2_Missense_Mutation_p.Q27R|VPS13B_ENST00000355155.1_Missense_Mutation_p.Q27R|RP11-410L14.2_ENST00000521696.1_lincRNA|VPS13B_ENST00000357162.2_Missense_Mutation_p.Q27R|VPS13B_ENST00000395996.1_Missense_Mutation_p.Q27R	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	27					protein transport (GO:0015031)					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			TCGGATCTACAGCTTTCACTA	0.423																																					Colon(161;2205 2542 7338 31318)	ENST00000395996.1																			0				NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193						c.(79-81)cAg>cGg		vacuolar protein sorting 13 homolog B (yeast)							197	182	187					8																	100026096		2203	4300	6503	SO:0001583	missense	157680				protein transport			g.chr8:100026096A>G	AJ608772	CCDS6280.1, CCDS6281.1, CCDS6283.1, CCDS47903.1	8q22-q23	2014-09-17	2006-12-19	2005-04-08	ENSG00000132549	ENSG00000132549			2183	protein-coding gene	gene with protein product		607817	"Cohen syndrome 1"	CHS1, COH1		7920642, 15498460	Standard	NM_181661		Approved		uc003yiv.4	Q7Z7G8	OTTHUMG00000140383	ENST00000358544.2:c.80A>G	8.37:g.100026096A>G	ENSP00000351346:p.Gln27Arg					VPS13B_ENST00000355155.1_Missense_Mutation_p.Q27R|VPS13B_ENST00000358544.2_Missense_Mutation_p.Q27R|VPS13B_ENST00000441350.2_Missense_Mutation_p.Q27R|VPS13B_ENST00000357162.2_Missense_Mutation_p.Q27R	p.Q27R			Q7Z7G8	VP13B_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.00636)		2	191	+	Breast(36;3.73e-07)		27					C9JD30|Q709C6|Q709C7|Q7Z7G4|Q7Z7G5|Q7Z7G6|Q7Z7G7|Q8NB77|Q9NWV1|Q9Y4E7	Missense_Mutation	SNP	ENST00000358544.2	37	c.80A>G	CCDS6280.1	.	.	.	.	.	.	.	.	.	.	A	22.2	4.264257	0.80358	.	.	ENSG00000132549	ENST00000355155;ENST00000357162;ENST00000358544;ENST00000395996;ENST00000441350	D;D;D;D;D	0.82344	-1.6;-1.6;-1.6;-1.6;-1.6	4.85	4.85	0.62838	.	0.000000	0.64402	D	0.000001	T	0.81645	0.4866	N	0.05441	-0.05	0.58432	D	0.999999	D;D;P;P;B	0.69078	0.992;0.997;0.681;0.681;0.291	D;D;B;B;B	0.79108	0.979;0.992;0.187;0.187;0.2	D	0.84219	0.0460	10	0.44086	T	0.13	.	14.6144	0.68539	1.0:0.0:0.0:0.0	.	27;27;27;27;27	Q7Z7G8-2;Q7Z7G8;Q7Z7G8-3;Q7Z7G8-4;Q7Z7G8-5	.;VP13B_HUMAN;.;.;.	R	27	ENSP00000347281:Q27R;ENSP00000349685:Q27R;ENSP00000351346:Q27R;ENSP00000379318:Q27R;ENSP00000398472:Q27R	ENSP00000347281:Q27R	Q	+	2	0	VPS13B	100095272	1.000000	0.71417	0.997000	0.53966	0.980000	0.70556	8.916000	0.92745	2.030000	0.59900	0.455000	0.32223	CAG		0.423	VPS13B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000277138.1	NM_184042		134	104	0	0	0	1	0	134	104					G	100026096	A	G	100026096	3	3	300	1	0	0	0	0	1	0	0	0	17187	188	7	4	82	4	VPS13B	8	100026096	Missense_Mutation	SNP	A	TCGA-KC-A7F5-01A-11D-A33T-08	29044452	100026096	46337926	15	14336											
RPL12	6136	broad.mit.edu	37	chr9	130210646	130210646	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tctggctaaggatcggtgccGcatctgtcgagcaatgttga	8	11	13	9	3	2	1	0	1	2	0	4	3	2	2	1	3	2	4	1	3	2	2	rs184123213	byFrequency	TCGA-KC-A7F5-01A-11D-A33T-08	TCGA-KC-A7F5-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18346a75-5c68-44ad-94d2-2c935cb2b87a	e883ecaa-298d-48b8-929a-0ce5fb7b476b	g.chr9:130210646G>A	ENST00000361436.5	-	5	436	c.349C>T	c.(349-351)Cgg>Tgg	p.R117W	RPL12_ENST00000497322.1_5'UTR|RPL12_ENST00000536368.1_Missense_Mutation_p.R84W|SNORA65_ENST00000364432.1_RNA	NM_000976.3	NP_000967.1	P30050	RL12_HUMAN	ribosomal protein L12	117					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)|prostate(1)	4						GATCGGTGCCGCATCTGTCGA	0.423													G|||	2	0.000399361	0	0	5008	,	,		21033	0.001		0	False		,,,				2504	0.001					ENST00000361436.5																			0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)|prostate(1)	4						c.(349-351)Cgg>Tgg		ribosomal protein L12							196	186	189					9																	130210646		2203	4300	6503	SO:0001583	missense	6136				endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosol|ribosome	RNA binding|structural constituent of ribosome	g.chr9:130210646G>A		CCDS6872.1	9q34	2011-04-06			ENSG00000197958	ENSG00000197958		"L ribosomal proteins"	10302	protein-coding gene	gene with protein product		180475				8441690	Standard	NM_000976		Approved	L12	uc004bqy.2	P30050	OTTHUMG00000020704	ENST00000361436.5:c.349C>T	9.37:g.130210646G>A	ENSP00000354739:p.Arg117Trp					RPL12_ENST00000497322.1_5'UTR|RPL12_ENST00000536368.1_Missense_Mutation_p.R84W	p.R117W	NM_000976.3	NP_000967.1	P30050	RL12_HUMAN			5	436	-			117					Q5VVV2|Q6PB27	Missense_Mutation	SNP	ENST00000361436.5	37	c.349C>T	CCDS6872.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	15.77	2.930198	0.52866	.	.	ENSG00000197958	ENST00000361436;ENST00000536368	T;T	0.46451	0.87;0.87	5.12	-1.53	0.08611	Ribosomal protein L11, C-terminal (3);	0.000000	0.85682	U	0.000000	T	0.46328	0.1387	M	0.86864	2.845	0.53005	D	0.999962	B;B	0.30727	0.002;0.292	B;B	0.28709	0.001;0.093	T	0.59752	-0.7395	10	0.59425	D	0.04	-0.0031	15.1129	0.72372	0.0:0.0:0.2065:0.7935	.	84;117	P30050-2;P30050	.;RL12_HUMAN	W	117;84	ENSP00000354739:R117W;ENSP00000441179:R84W	ENSP00000354739:R117W	R	-	1	2	RPL12	129250467	1.000000	0.71417	0.962000	0.40283	0.987000	0.75469	0.844000	0.27654	-0.034000	0.13713	0.655000	0.94253	CGG		0.423	RPL12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054189.1			5	238	0	0	0	1	0	5	238					A	130210646	G	A	130210646	3	1	300	1	0	0	0	0	1	0	0	0	13558	1086	38	1	160	1	RPL12	9	130210646	Missense_Mutation	SNP	G	TCGA-KC-A7F5-01A-11D-A33T-08		130210646	11002785	16	14337											
APBB1IP	54518	broad.mit.edu	37	chr10	26822387	26822387	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaatttctacttggataacaGaggaaaaaaagaaagcaagg	20	7	10	4	0	1	2	0	0	1	2	1	5	1	4	0	3	3	1	0	3	8	4			TCGA-KC-A7F5-01A-11D-A33T-08	TCGA-KC-A7F5-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18346a75-5c68-44ad-94d2-2c935cb2b87a	e883ecaa-298d-48b8-929a-0ce5fb7b476b	g.chr10:26822387G>T	ENST00000376236.4	+	9	1288	c.833G>T	c.(832-834)aGa>aTa	p.R278I		NM_019043.3	NP_061916.3	Q7Z5R6	AB1IP_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 1 interacting protein	278					blood coagulation (GO:0007596)|platelet activation (GO:0030168)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|plasma membrane (GO:0005886)				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(27)|skin(7)|upper_aerodigestive_tract(1)	45						TTGGATAACAGAGGAAAAAAA	0.348																																						ENST00000376236.4																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(27)|skin(7)|upper_aerodigestive_tract(1)	45						c.(832-834)aGa>aTa		amyloid beta (A4) precursor protein-binding, family B, member 1 interacting protein							76	76	76					10																	26822387		2202	4300	6502	SO:0001583	missense	54518				blood coagulation|signal transduction	cytoskeleton|cytosol|focal adhesion|lamellipodium		g.chr10:26822387G>T	AB085852	CCDS31167.1	10p12.1	2013-01-10			ENSG00000077420	ENSG00000077420		"Pleckstrin homology (PH) domain containing"	17379	protein-coding gene	gene with protein product	"Rap1-GTP-interacting adaptor molecule"	609036				9407065	Standard	NM_019043		Approved	INAG1, RIAM	uc001iss.3	Q7Z5R6	OTTHUMG00000017841	ENST00000376236.4:c.833G>T	10.37:g.26822387G>T	ENSP00000365411:p.Arg278Ile						p.R278I	NM_019043.3	NP_061916.3	Q7Z5R6	AB1IP_HUMAN			9	1288	+			278					Q8IWS8|Q8IYL7|Q8IZZ7	Missense_Mutation	SNP	ENST00000376236.4	37	c.833G>T	CCDS31167.1	.	.	.	.	.	.	.	.	.	.	G	13.66	2.303800	0.40795	.	.	ENSG00000077420	ENST00000445780;ENST00000376236	T	0.30714	1.52	5.63	0.723	0.18231	.	0.171961	0.64402	D	0.000007	T	0.11067	0.0270	N	0.08118	0	0.80722	D	1	B;P	0.39665	0.035;0.682	B;B	0.31547	0.065;0.132	T	0.12400	-1.0549	10	0.56958	D	0.05	.	5.1028	0.14768	0.5901:0.0:0.2866:0.1233	.	278;278	B4E100;Q7Z5R6	.;AB1IP_HUMAN	I	278	ENSP00000365411:R278I	ENSP00000365411:R278I	R	+	2	0	APBB1IP	26862393	1.000000	0.71417	0.994000	0.49952	0.904000	0.53231	0.909000	0.28558	-0.109000	0.12044	-0.312000	0.09012	AGA		0.348	APBB1IP-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047270.1	NM_019043		16	21	1	0	6.94344e-10	1	7.42787e-10	16	21					T	26822387	G	T	26822387	3	4	300	1	0	0	0	0	1	0	0	0	760	942	33	5	859	5	APBB1IP	10	26822387	Missense_Mutation	SNP	G	TCGA-KC-A7F5-01A-11D-A33T-08		26822387	108712360	17	14338											
MMP26	56547	broad.mit.edu	37	chr11	5010966	5010966	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gctcctgcaacaattccatcGgaatgggacagacctacttg	11	9	9	12	1	0	1	0	0	0	1	3	3	2	3	3	2	3	2	3	2	4	3	rs368459718		TCGA-KC-A7F5-01A-11D-A33T-08	TCGA-KC-A7F5-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18346a75-5c68-44ad-94d2-2c935cb2b87a	e883ecaa-298d-48b8-929a-0ce5fb7b476b	g.chr11:5010966G>A	ENST00000380390.1	+	3	404	c.188G>A	c.(187-189)cGg>cAg	p.R63Q	MMP26_ENST00000300762.1_Missense_Mutation_p.R63Q|MMP26_ENST00000477339.1_3'UTR			Q9NRE1	MMP26_HUMAN	matrix metallopeptidase 26	63					collagen catabolic process (GO:0030574)|proteolysis (GO:0006508)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.R63P(1)		breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(11)|pancreas(1)|skin(3)|stomach(1)	22		Medulloblastoma(188;0.0025)|Breast(177;0.0204)|all_neural(188;0.0227)		Epithelial(150;1.33e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0287)|LUSC - Lung squamous cell carcinoma(625;0.191)	Marimastat(DB00786)	CAATTCCATCGGAATGGGACA	0.527																																						ENST00000380390.1																			1	Substitution - Missense(1)	p.R63P(1)	pancreas(1)	breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(11)|pancreas(1)|skin(3)|stomach(1)	22						c.(187-189)cGg>cAg		matrix metallopeptidase 26		G	GLN/ARG	0,4402		0,0,2201	79	63	68		188	-2.2	0	11		68	1,8595	1.2+/-3.3	0,1,4297	no	missense	MMP26	NM_021801.3	43	0,1,6498	AA,AG,GG		0.0116,0.0,0.0077	benign	63/262	5010966	1,12997	2201	4298	6499	SO:0001583	missense	56547				collagen catabolic process|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr11:5010966G>A	AF230354	CCDS7752.1	11p15	2008-07-18	2005-08-08		ENSG00000167346	ENSG00000167346	3.4.24.1		14249	protein-coding gene	gene with protein product	"matrilysin 2"	605470	"matrix metalloproteinase 26"			10801841, 10824119	Standard	NM_021801		Approved	endometase, MGC126590, MGC126592	uc001lzv.3	Q9NRE1	OTTHUMG00000066442	ENST00000380390.1:c.188G>A	11.37:g.5010966G>A	ENSP00000369753:p.Arg63Gln					MMP26_ENST00000477339.1_3'UTR|MMP26_ENST00000300762.1_Missense_Mutation_p.R63Q	p.R63Q			Q9NRE1	MMP26_HUMAN		Epithelial(150;1.33e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0287)|LUSC - Lung squamous cell carcinoma(625;0.191)	3	404	+		Medulloblastoma(188;0.0025)|Breast(177;0.0204)|all_neural(188;0.0227)	63					Q3MJ78|Q9GZS2|Q9NR87	Missense_Mutation	SNP	ENST00000380390.1	37	c.188G>A	CCDS7752.1	.	.	.	.	.	.	.	.	.	.	G	10.86	1.468405	0.26335	0.0	1.16E-4	ENSG00000167346	ENST00000380390;ENST00000300762	T;T	0.39056	1.1;1.1	3.73	-2.23	0.06930	Metallopeptidase, catalytic domain (1);	2.363040	0.02553	N	0.095910	T	0.21145	0.0509	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.12319	-1.0552	10	0.66056	D	0.02	0.698	0.8034	0.01079	0.2864:0.1017:0.208:0.4039	.	63	Q9NRE1	MMP26_HUMAN	Q	63	ENSP00000369753:R63Q;ENSP00000300762:R63Q	ENSP00000300762:R63Q	R	+	2	0	MMP26	4967542	0.009000	0.17119	0.000000	0.03702	0.045000	0.14185	0.991000	0.29654	-0.962000	0.03604	-1.283000	0.01379	CGG		0.527	MMP26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142058.3	NM_021801		14	11	0	0	0	1	0	14	11					A	5010966	G	A	5010966	3	1	300	1	0	0	0	0	1	0	0	0	9663	1116	39	2	194	2	MMP26	11	5010966	Missense_Mutation	SNP	G	TCGA-KC-A7F5-01A-11D-A33T-08		5010966	129995550	18	14339											
ZNF143	7702	broad.mit.edu	37	chr11	9522776	9522776	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	aggatgtgggagggcatttgCcagtgcaacaaattataaaa	15	9	12	5	0	0	0	0	0	0	0	0	2	0	2	1	3	3	2	1	3	5	3			TCGA-KC-A7F5-01A-11D-A33T-08	TCGA-KC-A7F5-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18346a75-5c68-44ad-94d2-2c935cb2b87a	e883ecaa-298d-48b8-929a-0ce5fb7b476b	g.chr11:9522776C>T	ENST00000396602.2	+	11	1225	c.1106C>T	c.(1105-1107)gCc>gTc	p.A369V	ZNF143_ENST00000396604.1_Missense_Mutation_p.A368V|ZNF143_ENST00000299606.2_Missense_Mutation_p.A341V|ZNF143_ENST00000396597.3_Missense_Mutation_p.A338V|ZNF143_ENST00000530463.1_Missense_Mutation_p.A368V	NM_001282656.1|NM_001282657.1|NM_003442.5	NP_001269585.1|NP_001269586.1|NP_003433.3	P52747	ZN143_HUMAN	zinc finger protein 143	369					gene expression (GO:0010467)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|transcription from RNA polymerase II promoter (GO:0006366)|transcription from RNA polymerase III promoter (GO:0006383)	nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|large_intestine(5)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	13				all cancers(16;4.12e-09)|Epithelial(150;2.29e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0212)		AGGGCATTTGCCAGTGCAACA	0.418																																						ENST00000396602.2																			0				endometrium(1)|large_intestine(5)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	13						c.(1105-1107)gCc>gTc		zinc finger protein 143							154	143	147					11																	9522776		2201	4294	6495	SO:0001583	missense	7702				regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase III promoter|transcription from RNA polymerase II promoter|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding|zinc ion binding	g.chr11:9522776C>T	U09850	CCDS7799.2, CCDS60720.1, CCDS60721.1	11p15.4	2013-01-08	2006-06-13		ENSG00000166478	ENSG00000166478		"Zinc fingers, C2H2-type"	12928	protein-coding gene	gene with protein product		603433	"zinc finger protein 143 (clone pHZ-1)"				Standard	NM_003442		Approved	SBF, pHZ-1, STAF	uc001mhr.3	P52747	OTTHUMG00000149922	ENST00000396602.2:c.1106C>T	11.37:g.9522776C>T	ENSP00000379847:p.Ala369Val					ZNF143_ENST00000396597.3_Missense_Mutation_p.A338V|ZNF143_ENST00000396604.1_Missense_Mutation_p.A368V|ZNF143_ENST00000530463.1_Missense_Mutation_p.A368V|ZNF143_ENST00000299606.2_Missense_Mutation_p.A341V	p.A369V	NM_003442.5	NP_003433.3	P52747	ZN143_HUMAN		all cancers(16;4.12e-09)|Epithelial(150;2.29e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0212)	11	1225	+			369					A8K518|B4DLY5|E7ER34|O75559|Q8WUK9	Missense_Mutation	SNP	ENST00000396602.2	37	c.1106C>T	CCDS7799.2	.	.	.	.	.	.	.	.	.	.	C	24.3	4.512216	0.85389	.	.	ENSG00000166478	ENST00000396604;ENST00000396602;ENST00000530463;ENST00000396597;ENST00000299606	T;T;T;T;T	0.37235	1.21;1.21;1.21;1.21;1.21	5.66	5.66	0.87406	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.64402	D	0.000001	T	0.38161	0.1030	L	0.35644	1.08	0.80722	D	1	B;B;B	0.31413	0.275;0.322;0.322	B;B;B	0.36719	0.148;0.231;0.231	T	0.23368	-1.0190	10	0.66056	D	0.02	.	19.7617	0.96321	0.0:1.0:0.0:0.0	.	338;368;369	P52747-2;E7ER34;P52747	.;.;ZN143_HUMAN	V	368;369;368;338;341	ENSP00000379849:A368V;ENSP00000379847:A369V;ENSP00000432154:A368V;ENSP00000379843:A338V;ENSP00000299606:A341V	ENSP00000299606:A341V	A	+	2	0	ZNF143	9479352	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.778000	0.85637	2.671000	0.90904	0.655000	0.94253	GCC		0.418	ZNF143-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313921.2	NM_003442		4	139	0	0	0	1	0	4	139					T	9522776	C	T	9522776	3	4	300	1	0	0	0	0	1	0	0	0	17729	739	26	3	1144	3	ZNF143	11	9522776	Missense_Mutation	SNP	C	TCGA-KC-A7F5-01A-11D-A33T-08	4511810	9522776	125483740	19	14340											
OR5D18	219438	broad.mit.edu	37	chr11	55587793	55587793	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttgtaaccatcctcaagatgCgttcagtcagtgggcgccgc	8	10	11	12	3	3	1	3	0	0	1	4	1	4	1	3	1	2	2	3	1	2	3	rs143615376		TCGA-KC-A7F5-01A-11D-A33T-08	TCGA-KC-A7F5-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18346a75-5c68-44ad-94d2-2c935cb2b87a	e883ecaa-298d-48b8-929a-0ce5fb7b476b	g.chr11:55587793C>T	ENST00000333976.4	+	1	708	c.688C>T	c.(688-690)Cgt>Tgt	p.R230C		NM_001001952.1	NP_001001952.1	Q8NGL1	OR5DI_HUMAN	olfactory receptor, family 5, subfamily D, member 18	230						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|breast(1)|endometrium(3)|large_intestine(6)|lung(33)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		all_epithelial(135;0.208)				CCTCAAGATGCGTTCAGTCAG	0.502																																						ENST00000333976.4																			0				NS(2)|breast(1)|endometrium(3)|large_intestine(6)|lung(33)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						c.(688-690)Cgt>Tgt		olfactory receptor, family 5, subfamily D, member 18							153	128	136					11																	55587793		2200	4296	6496	SO:0001583	missense	219438				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55587793C>T	AB065781	CCDS31510.1	11q11	2012-08-09			ENSG00000186119	ENSG00000186119		"GPCR / Class A : Olfactory receptors"	15285	protein-coding gene	gene with protein product							Standard	NM_001001952		Approved		uc010rin.2	Q8NGL1	OTTHUMG00000166811	ENST00000333976.4:c.688C>T	11.37:g.55587793C>T	ENSP00000335025:p.Arg230Cys						p.R230C	NM_001001952.1	NP_001001952.1	Q8NGL1	OR5DI_HUMAN			1	708	+		all_epithelial(135;0.208)	230					Q6IF67|Q6IFD3|Q96RB3	Missense_Mutation	SNP	ENST00000333976.4	37	c.688C>T	CCDS31510.1	.	.	.	.	.	.	.	.	.	.	.	4.065	0.009919	0.07912	.	.	ENSG00000186119	ENST00000333976	T	0.40225	1.04	4.85	0.255	0.15561	GPCR, rhodopsin-like superfamily (1);	2.029550	0.02286	N	0.069875	T	0.36496	0.0969	L	0.42744	1.35	0.09310	N	1	B	0.13594	0.008	B	0.10450	0.005	T	0.29119	-1.0022	10	0.59425	D	0.04	15.2722	5.2378	0.15456	0.4033:0.4405:0.0:0.1563	.	230	Q8NGL1	OR5DI_HUMAN	C	230	ENSP00000335025:R230C	ENSP00000335025:R230C	R	+	1	0	OR5D18	55344369	0.000000	0.05858	0.212000	0.23672	0.099000	0.18886	0.097000	0.15168	0.179000	0.19938	-0.338000	0.08134	CGT		0.502	OR5D18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391515.1	NM_001001952		37	43	0	0	0	1	0	37	43					T	55587793	C	T	55587793	3	4	300	1	0	0	0	0	1	0	0	0	11157	768	27	1	690	1	OR5D18	11	55587793	Missense_Mutation	SNP	C	TCGA-KC-A7F5-01A-11D-A33T-08	46065017	55587793	79418723	20	14341											
PDE2A	5138	broad.mit.edu	37	chr11	72293527	72293527	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggcagggaacgaggggtataGgtgaaacttgcaaaattgga	14	7	16	4	1	0	1	0	1	0	0	0	4	0	3	0	6	3	3	0	6	6	4			TCGA-KC-A7F5-01A-11D-A33T-08	TCGA-KC-A7F5-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18346a75-5c68-44ad-94d2-2c935cb2b87a	e883ecaa-298d-48b8-929a-0ce5fb7b476b	g.chr11:72293527G>A	ENST00000334456.5	-	21	2057	c.1812C>T	c.(1810-1812)acC>acT	p.T604T	PDE2A_ENST00000418754.2_Silent_p.T489T|RP11-169D4.2_ENST00000545254.1_RNA|PDE2A_ENST00000444035.2_Silent_p.T595T|PDE2A_ENST00000544570.1_Silent_p.T597T|PDE2A_ENST00000540345.1_Silent_p.T595T|PDE2A_ENST00000376450.3_Silent_p.T348T	NM_002599.4	NP_002590.1	O00408	PDE2A_HUMAN	phosphodiesterase 2A, cGMP-stimulated	604					blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cAMP catabolic process (GO:0006198)|cAMP-mediated signaling (GO:0019933)|cellular response to cGMP (GO:0071321)|cellular response to drug (GO:0035690)|cellular response to granulocyte macrophage colony-stimulating factor stimulus (GO:0097011)|cellular response to macrophage colony-stimulating factor stimulus (GO:0036006)|cellular response to mechanical stimulus (GO:0071260)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cGMP catabolic process (GO:0046069)|cGMP-mediated signaling (GO:0019934)|establishment of endothelial barrier (GO:0061028)|metabolic process (GO:0008152)|monocyte differentiation (GO:0030224)|negative regulation of cAMP biosynthetic process (GO:0030818)|negative regulation of protein import into nucleus, translocation (GO:0033159)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of vascular permeability (GO:0043116)|positive regulation of inflammatory response (GO:0050729)|positive regulation of vascular permeability (GO:0043117)|protein targeting to mitochondrion (GO:0006626)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|mitochondrial matrix (GO:0005759)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	calcium channel activity (GO:0005262)|cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity (GO:0004118)|cyclic-nucleotide phosphodiesterase activity (GO:0004112)|drug binding (GO:0008144)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|TPR domain binding (GO:0030911)			breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	36			BRCA - Breast invasive adenocarcinoma(5;3.55e-05)		Caffeine(DB00201)|Tofisopam(DB08811)	GAGGGGTATAGGTGAAACTTG	0.527																																						ENST00000334456.5																			0				breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	36						c.(1810-1812)acC>acT		phosphodiesterase 2A, cGMP-stimulated	Sildenafil(DB00203)|Sulindac(DB00605)						103	84	90					11																	72293527		2200	4293	6493	SO:0001819	synonymous_variant	5138				platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity|metal ion binding	g.chr11:72293527G>A	U67733	CCDS8216.1, CCDS44670.1, CCDS53678.1, CCDS73345.1	11q13.1-q14.1	2008-05-14			ENSG00000186642	ENSG00000186642	3.1.4.17	"Phosphodiesterases"	8777	protein-coding gene	gene with protein product		602658				9210593	Standard	NM_002599		Approved		uc010rrc.2	O00408	OTTHUMG00000102045	ENST00000334456.5:c.1812C>T	11.37:g.72293527G>A						PDE2A_ENST00000540345.1_Silent_p.T595T|PDE2A_ENST00000444035.2_Silent_p.T595T|PDE2A_ENST00000418754.2_Silent_p.T489T|PDE2A_ENST00000376450.3_Silent_p.T348T|PDE2A_ENST00000544570.1_Silent_p.T597T	p.T604T	NM_002599.4	NP_002590.1	O00408	PDE2A_HUMAN	BRCA - Breast invasive adenocarcinoma(5;3.55e-05)		21	2057	-			604					B2R646|B3KRV5|E9PGI1|F6W5Z0|Q5J791|Q5J792|Q5J793|Q6ZMR1	Silent	SNP	ENST00000334456.5	37	c.1812C>T	CCDS8216.1																																																																																				0.527	PDE2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219839.2	NM_002599		21	31	0	0	0	1	0	21	31					A	72293527	G	A	72293527	2	1	300	1	0	0	0	0	0	0	0	1	11636	987	35	3		3	PDE2A	11	72293527	Silent	SNP	G	TCGA-KC-A7F5-01A-11D-A33T-08	16705734	72293527	62712989	21	14342											
FUT4	2526	broad.mit.edu	37	chr11	94277395	94277395	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaggctcccggggcctggtcGggccggctgggccccgggcg	1	4	21	15	5	0	0	0	0	0	0	2	1	1	0	5	8	0	2	5	8	0	0			TCGA-KC-A7F5-01A-11D-A33T-08	TCGA-KC-A7F5-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18346a75-5c68-44ad-94d2-2c935cb2b87a	e883ecaa-298d-48b8-929a-0ce5fb7b476b	g.chr11:94277395G>T	ENST00000358752.2	+	1	379	c.96G>T	c.(94-96)tcG>tcT	p.S32S	RP11-867G2.8_ENST00000537874.1_RNA|RP11-867G2.8_ENST00000536540.1_RNA	NM_002033.3	NP_002024.1	P22083	FUT4_HUMAN	fucosyltransferase 4 (alpha (1,3) fucosyltransferase, myeloid-specific)	32					carbohydrate metabolic process (GO:0005975)|fucosylation (GO:0036065)|L-fucose catabolic process (GO:0042355)|protein glycosylation (GO:0006486)	cell periphery (GO:0071944)|cell surface (GO:0009986)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	alpha-(1->3)-fucosyltransferase activity (GO:0046920)|fucosyltransferase activity (GO:0008417)			central_nervous_system(2)|endometrium(2)|lung(1)|skin(2)|upper_aerodigestive_tract(1)	8		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				GGGCCTGGTCGGGCCGGCTGG	0.786																																						ENST00000358752.2																			0				central_nervous_system(2)|endometrium(2)|lung(1)|skin(2)|upper_aerodigestive_tract(1)	8						c.(94-96)tcG>tcT		fucosyltransferase 4 (alpha (1,3) fucosyltransferase, myeloid-specific)							4	6	5					11																	94277395		1806	3753	5559	SO:0001819	synonymous_variant	2526				L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to membrane|membrane fraction	alpha(1,3)-fucosyltransferase activity	g.chr11:94277395G>T		CCDS8301.1	11q21	2013-02-26			ENSG00000196371	ENSG00000196371		"CD molecules", "Fucosyltransferases"	4015	protein-coding gene	gene with protein product	"ELAM ligand fucosyltransferase", "galactoside 3-L-fucosyltransferase"	104230		CD15, FCT3A, ELFT		1702034	Standard	NM_002033		Approved	FUC-TIV	uc001pez.3	P22083	OTTHUMG00000167795	ENST00000358752.2:c.96G>T	11.37:g.94277395G>T							p.S32S	NM_002033.3	NP_002024.1	P22083	FUT4_HUMAN			1	379	+		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)	32					B2RMS0	Silent	SNP	ENST00000358752.2	37	c.96G>T	CCDS8301.1																																																																																				0.786	FUT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396327.2	NM_002033		12	11	1	0	1.08611e-07	1	1.13548e-07	12	11					T	94277395	G	T	94277395	2	4	300	1	0	0	0	0	0	0	0	1	6106	1103	39	5		5	FUT4	11	94277395	Silent	SNP	G	TCGA-KC-A7F5-01A-11D-A33T-08	21983868	94277395	40729121	22	14343											
SLCO1C1	53919	broad.mit.edu	37	chr12	20864418	20864418	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attaccagtttcagttatggAaaaatcaaaatccaaaataa	20	11	4	6	0	2	0	2	0	0	0	3	1	3	1	2	1	1	2	2	1	9	4			TCGA-KC-A7F5-01A-11D-A33T-08	TCGA-KC-A7F5-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18346a75-5c68-44ad-94d2-2c935cb2b87a	e883ecaa-298d-48b8-929a-0ce5fb7b476b	g.chr12:20864418A>G	ENST00000266509.2	+	5	871	c.503A>G	c.(502-504)gAa>gGa	p.E168G	SLCO1C1_ENST00000545604.1_Missense_Mutation_p.E168G|SLCO1C1_ENST00000545102.1_Missense_Mutation_p.E50G|SLCO1C1_ENST00000381552.1_Missense_Mutation_p.E168G|SLCO1C1_ENST00000540354.1_Missense_Mutation_p.E168G	NM_017435.4	NP_059131.1	Q9NYB5	SO1C1_HUMAN	solute carrier organic anion transporter family, member 1C1	168					sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			NS(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	60	Esophageal squamous(101;0.149)				Conjugated Estrogens(DB00286)|Dextrothyroxine(DB00509)|Diclofenac(DB00586)|Digoxin(DB00390)|Dinoprostone(DB00917)|Estradiol(DB00783)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)|Meclofenamic acid(DB00939)|Methotrexate(DB00563)|Ouabain(DB01092)|Phenytoin(DB00252)|Probenecid(DB01032)	TCAGTTATGGAAAAATCAAAA	0.343																																						ENST00000381552.1																			0				NS(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	60						c.(502-504)gAa>gGa		solute carrier organic anion transporter family, member 1C1							103	104	104					12																	20864418		2203	4300	6503	SO:0001583	missense	53919				sodium-independent organic anion transport	integral to membrane|plasma membrane	thyroid hormone transmembrane transporter activity	g.chr12:20864418A>G	AF260704	CCDS8683.1, CCDS53757.1, CCDS53758.1, CCDS53759.1	12p12.2	2013-05-22	2003-11-25	2003-11-26	ENSG00000139155	ENSG00000139155		"Solute carriers"	13819	protein-coding gene	gene with protein product		613389	"solute carrier family 21 (organic anion transporter), member 14"	SLC21A14			Standard	NM_017435		Approved	OATP-F, OATP1C1, OATP1	uc010sii.2	Q9NYB5	OTTHUMG00000168966	ENST00000266509.2:c.503A>G	12.37:g.20864418A>G	ENSP00000266509:p.Glu168Gly					SLCO1C1_ENST00000266509.2_Missense_Mutation_p.E168G|SLCO1C1_ENST00000545102.1_Missense_Mutation_p.E50G|SLCO1C1_ENST00000545604.1_Missense_Mutation_p.E168G|SLCO1C1_ENST00000540354.1_Missense_Mutation_p.E168G	p.E168G			Q9NYB5	SO1C1_HUMAN			5	871	+	Esophageal squamous(101;0.149)		168					B7Z251|B7Z3Q3|B7Z8P1|F5GZD6|Q5JPA4	Missense_Mutation	SNP	ENST00000266509.2	37	c.503A>G	CCDS8683.1	.	.	.	.	.	.	.	.	.	.	A	9.615	1.132243	0.21041	.	.	ENSG00000139155	ENST00000545604;ENST00000540354;ENST00000266509;ENST00000381552;ENST00000545102	T;T;T;T;T	0.58210	1.09;0.35;1.09;1.09;1.09	4.41	0.759	0.18438	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.538042	0.19103	N	0.122655	T	0.35856	0.0946	L	0.38649	1.16	0.32176	N	0.580955	B;B;B;B	0.13145	0.007;0.0;0.007;0.0	B;B;B;B	0.16289	0.012;0.002;0.015;0.005	T	0.29852	-0.9998	10	0.22706	T	0.39	.	6.9896	0.24748	0.7234:0.0:0.2766:0.0	.	50;168;168;168	F5GZD6;B7Z3Q3;Q5JPA4;Q9NYB5	.;.;.;SO1C1_HUMAN	G	168;168;168;168;50	ENSP00000444149:E168G;ENSP00000438665:E168G;ENSP00000266509:E168G;ENSP00000370964:E168G;ENSP00000444527:E50G	ENSP00000266509:E168G	E	+	2	0	SLCO1C1	20755685	1.000000	0.71417	0.009000	0.14445	0.011000	0.07611	2.188000	0.42612	-0.024000	0.13941	-0.256000	0.11100	GAA		0.343	SLCO1C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401765.1	NM_017435		52	39	0	0	0	1	0	52	39					G	20864418	A	G	20864418	3	3	300	1	0	0	0	0	1	0	0	0	14725	246	9	4	517	4	SLCO1C1	12	20864418	Missense_Mutation	SNP	A	TCGA-KC-A7F5-01A-11D-A33T-08		20864418	112987477	23	14344											
ARID2	196528	broad.mit.edu	37	chr12	46230731	46230731	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acatagtcattttatttcttTaaggcaattaggccttgaca	12	16	6	7	0	2	1	1	1	1	0	2	1	2	1	1	2	0	1	1	2	5	8			TCGA-KC-A7F5-01A-11D-A33T-08	TCGA-KC-A7F5-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18346a75-5c68-44ad-94d2-2c935cb2b87a	e883ecaa-298d-48b8-929a-0ce5fb7b476b	g.chr12:46230731T>C	ENST00000334344.6	+	8	1152	c.980T>C	c.(979-981)tTa>tCa	p.L327S	ARID2_ENST00000444670.1_5'Flank|ARID2_ENST00000422737.1_Missense_Mutation_p.L178S|ARID2_ENST00000479608.1_3'UTR	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	327					chromatin modification (GO:0016568)|nucleosome disassembly (GO:0006337)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		TTTATTTCTTTAAGGCAATTA	0.363			"N, S, F"		hepatocellular carcinoma																																	ENST00000334344.6				Rec	yes		12	12q12	196528	"N, S, F"	AT rich interactive domain 2			E			hepatocellular carcinoma		0				NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116						c.(979-981)tTa>tCa		AT rich interactive domain 2 (ARID, RFX-like)							140	134	136					12																	46230731		2203	4300	6503	SO:0001583	missense	196528				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr12:46230731T>C		CCDS31783.1	12q13.11	2013-02-07			ENSG00000189079	ENSG00000189079		"-"	18037	protein-coding gene	gene with protein product		609539					Standard	NM_152641		Approved	KIAA1557, DKFZp686G052, FLJ30619, BAF200	uc001ros.1	Q68CP9	OTTHUMG00000150487	ENST00000334344.6:c.980T>C	12.37:g.46230731T>C	ENSP00000335044:p.Leu327Ser					ARID2_ENST00000422737.1_Missense_Mutation_p.L178S|ARID2_ENST00000479608.1_3'UTR	p.L327S	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)	8	1152	+	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	327					Q15KG9|Q5EB51|Q645I3|Q6ZRY5|Q7Z3I5|Q86T28|Q96SJ6|Q9HCL5	Missense_Mutation	SNP	ENST00000334344.6	37	c.980T>C	CCDS31783.1	.	.	.	.	.	.	.	.	.	.	T	23.2	4.393129	0.83011	.	.	ENSG00000189079	ENST00000334344;ENST00000422737	T;T	0.53857	0.6;0.6	5.87	5.87	0.94306	.	0.000000	0.64402	D	0.000001	T	0.72391	0.3454	M	0.72894	2.215	0.80722	D	1	D	0.76494	0.999	D	0.85130	0.997	T	0.75534	-0.3284	10	0.87932	D	0	-10.5499	16.2628	0.82557	0.0:0.0:0.0:1.0	.	327	Q68CP9	ARID2_HUMAN	S	327;178	ENSP00000335044:L327S;ENSP00000415650:L178S	ENSP00000335044:L327S	L	+	2	0	ARID2	44516998	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.004000	0.88535	2.233000	0.73108	0.482000	0.46254	TTA		0.363	ARID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318380.2	XM_350875		26	53	0	0	0	1	0	26	53					C	46230731	T	C	46230731	3	2	300	1	0	0	0	0	1	0	0	0	915	1764	61	4	1010	4	ARID2	12	46230731	Missense_Mutation	SNP	T	TCGA-KC-A7F5-01A-11D-A33T-08	25366313	46230731	87621164	24	14345											
LRP1	4035	broad.mit.edu	37	chr12	57590912	57590912	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgtggagggctatgcacccCgcggcggcgacccccacagc	6	4	15	16	4	0	0	0	0	0	0	0	2	0	1	4	4	2	2	4	4	1	1			TCGA-KC-A7F5-01A-11D-A33T-08	TCGA-KC-A7F5-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18346a75-5c68-44ad-94d2-2c935cb2b87a	e883ecaa-298d-48b8-929a-0ce5fb7b476b	g.chr12:57590912C>T	ENST00000243077.3	+	56	9506	c.9040C>T	c.(9040-9042)Cgc>Tgc	p.R3014C	MIR1228_ENST00000408438.1_RNA	NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	3014	EGF-like 12; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				aging (GO:0007568)|aorta morphogenesis (GO:0035909)|apoptotic cell clearance (GO:0043277)|beta-amyloid clearance (GO:0097242)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of platelet-derived growth factor receptor-beta signaling pathway (GO:2000587)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of Wnt signaling pathway (GO:0030178)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of lipid transport (GO:0032370)|positive regulation of protein transport (GO:0051222)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|receptor-mediated endocytosis (GO:0006898)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cholesterol transport (GO:0032374)|regulation of phospholipase A2 activity (GO:0032429)|retinoid metabolic process (GO:0001523)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|lipoprotein particle receptor binding (GO:0070325)|lipoprotein transporter activity (GO:0042954)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|receptor activity (GO:0004872)			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	CTATGCACCCCGCGGCGGCGA	0.637																																						ENST00000243077.3																			0				NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184						c.(9040-9042)Cgc>Tgc		low density lipoprotein receptor-related protein 1	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)						92	92	92					12																	57590912		2203	4300	6503	SO:0001583	missense	4035				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity	g.chr12:57590912C>T	X13916	CCDS8932.1	12q13.3	2013-05-28	2010-01-26		ENSG00000123384	ENSG00000123384		"CD molecules", "Low density lipoprotein receptors"	6692	protein-coding gene	gene with protein product		107770	"alpha-2-macroglobulin receptor"	APR, A2MR		2548950	Standard	NM_002332		Approved	LRP, CD91, LRP1A, APOER	uc001snd.3	Q07954	OTTHUMG00000044412	ENST00000243077.3:c.9040C>T	12.37:g.57590912C>T	ENSP00000243077:p.Arg3014Cys						p.R3014C	NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.0103)	56	9506	+			3014			EGF-like 12; calcium-binding (Potential).		Q2PP12|Q86SW0|Q8IVG8	Missense_Mutation	SNP	ENST00000243077.3	37	c.9040C>T	CCDS8932.1	.	.	.	.	.	.	.	.	.	.	C	15.17	2.754067	0.49362	.	.	ENSG00000123384	ENST00000243077	D	0.87256	-2.23	5.16	5.16	0.70880	Growth factor, receptor (1);EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	0.077298	0.52532	D	0.000074	D	0.82536	0.5058	L	0.45137	1.4	0.80722	D	1	D	0.62365	0.991	B	0.43623	0.425	T	0.83235	-0.0061	10	0.51188	T	0.08	.	11.0405	0.47827	0.2888:0.7112:0.0:0.0	.	3014	Q07954	LRP1_HUMAN	C	3014	ENSP00000243077:R3014C	ENSP00000243077:R3014C	R	+	1	0	LRP1	55877179	0.865000	0.29922	0.560000	0.28344	0.848000	0.48234	1.696000	0.37773	2.679000	0.91253	0.511000	0.50034	CGC		0.637	LRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412772.2	NM_002332		46	50	0	0	0	1	0	46	50					T	57590912	C	T	57590912	3	4	300	1	0	0	0	0	1	0	0	0	8951	652	23	2	9262	2	LRP1	12	57590912	Missense_Mutation	SNP	C	TCGA-KC-A7F5-01A-11D-A33T-08	11360181	57590912	76260983	25	14346											
IRAK3	11213	broad.mit.edu	37	chr12	66597520	66597520	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tttcaagcagctggctggatGttcgtcatattgaaaagtat	11	14	10	6	1	2	1	2	1	0	0	3	2	2	2	0	2	2	5	0	2	5	5			TCGA-KC-A7F5-01A-11D-A33T-08	TCGA-KC-A7F5-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18346a75-5c68-44ad-94d2-2c935cb2b87a	e883ecaa-298d-48b8-929a-0ce5fb7b476b	g.chr12:66597520G>C	ENST00000261233.4	+	2	584	c.163G>C	c.(163-165)Gtt>Ctt	p.V55L	IRAK3_ENST00000457197.2_Intron	NM_007199.2	NP_009130.2			interleukin-1 receptor-associated kinase 3											breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(28;0.0203)		CTGGCTGGATGTTCGTCATAT	0.368																																						ENST00000261233.4																			0				breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	36						c.(163-165)Gtt>Ctt		interleukin-1 receptor-associated kinase 3							73	69	70					12																	66597520		2203	4300	6503	SO:0001583	missense	0				interleukin-1-mediated signaling pathway|MyD88-dependent toll-like receptor signaling pathway|negative regulation of innate immune response|negative regulation of interleukin-12 production|negative regulation of interleukin-6 production|negative regulation of macrophage cytokine production|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein catabolic process|negative regulation of protein complex disassembly|negative regulation of toll-like receptor signaling pathway|negative regulation of tumor necrosis factor production|positive regulation of macrophage tolerance induction|positive regulation of NF-kappaB transcription factor activity|response to exogenous dsRNA|response to lipopolysaccharide|response to peptidoglycan	cytoplasm|nucleus	ATP binding|magnesium ion binding|protein heterodimerization activity|protein homodimerization activity|protein serine/threonine kinase activity	g.chr12:66597520G>C	AF113136	CCDS8975.1, CCDS44937.1	12q13.13	2008-05-02			ENSG00000090376	ENSG00000090376			17020	protein-coding gene	gene with protein product		604459				10383454	Standard	NM_001142523		Approved	IRAK-M	uc001sth.3	Q9Y616	OTTHUMG00000169002	ENST00000261233.4:c.163G>C	12.37:g.66597520G>C	ENSP00000261233:p.Val55Leu					IRAK3_ENST00000457197.2_Intron	p.V55L	NM_007199.2	NP_009130.2	Q9Y616	IRAK3_HUMAN		GBM - Glioblastoma multiforme(28;0.0203)	2	584	+			55			Death.			Missense_Mutation	SNP	ENST00000261233.4	37	c.163G>C	CCDS8975.1	.	.	.	.	.	.	.	.	.	.	G	18.67	3.674433	0.67928	.	.	ENSG00000090376	ENST00000261233	D	0.84516	-1.86	5.68	5.68	0.88126	Death (3);DEATH-like (2);	0.000000	0.64402	D	0.000001	D	0.88273	0.6392	L	0.39085	1.19	0.80722	D	1	D	0.76494	0.999	D	0.81914	0.995	D	0.86786	0.1982	9	.	.	.	-17.6364	15.2747	0.73732	0.0:0.0:1.0:0.0	.	55	Q9Y616	IRAK3_HUMAN	L	55	ENSP00000261233:V55L	.	V	+	1	0	IRAK3	64883787	1.000000	0.71417	1.000000	0.80357	0.904000	0.53231	3.823000	0.55715	2.690000	0.91761	0.491000	0.48974	GTT		0.368	IRAK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401908.1			20	27	0	0	0	1	0	20	27					C	66597520	G	C	66597520	3	2	300	1	0	0	0	0	1	0	0	0	7824	1377	48	5	169	5	IRAK3	12	66597520	Missense_Mutation	SNP	G	TCGA-KC-A7F5-01A-11D-A33T-08	9006608	66597520	67254375	26	14347											
FOXA1	3169	broad.mit.edu	37	chr14	38061223	38061228	+	In_Frame_Del	DEL	TCTCGA	TCTCGA	-																															gcggcgcaagtagcagccgtTctcgaacatgttgccggagt																										TCGA-KC-A7F5-01A-11D-A33T-08	TCGA-KC-A7F5-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18346a75-5c68-44ad-94d2-2c935cb2b87a	e883ecaa-298d-48b8-929a-0ce5fb7b476b	g.chr14:38061223_38061228delTCTCGA	ENST00000250448.2	-	2	822_827	c.761_766delTCGAGA	c.(760-768)ttcgagaac>tac	p.254_256FEN>Y	FOXA1_ENST00000545425.2_5'UTR|FOXA1_ENST00000540786.1_In_Frame_Del_p.221_223FEN>Y	NM_004496.3	NP_004487.2	P55317	FOXA1_HUMAN	forkhead box A1	254					anatomical structure formation involved in morphogenesis (GO:0048646)|chromatin remodeling (GO:0006338)|dorsal/ventral neural tube patterning (GO:0021904)|epithelial cell maturation involved in prostate gland development (GO:0060743)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|epithelial-mesenchymal signaling involved in prostate gland development (GO:0060738)|glucose homeostasis (GO:0042593)|hormone metabolic process (GO:0042445)|lung epithelial cell differentiation (GO:0060487)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron fate specification (GO:0048665)|positive regulation of cell-cell adhesion mediated by cadherin (GO:2000049)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prostate gland epithelium morphogenesis (GO:0060740)|prostate gland stromal morphogenesis (GO:0060741)|response to estradiol (GO:0032355)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)	microvillus (GO:0005902)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|endometrium(1)|large_intestine(2)|lung(3)|prostate(12)	19	Breast(36;0.0954)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		Lung(238;5.41e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0454)|LUSC - Lung squamous cell carcinoma(13;0.0917)|all cancers(34;0.0925)|BRCA - Breast invasive adenocarcinoma(188;0.239)	GBM - Glioblastoma multiforme(112;0.0222)		TAGCAGCCGTTCTCGAACATGTTGCC	0.689																																						ENST00000250448.2																			0				breast(1)|endometrium(1)|large_intestine(2)|lung(3)|prostate(12)	19						c.(760-768)tac>t		forkhead box A1																																				SO:0001651	inframe_deletion	3169				chromatin remodeling|embryo development|epithelial cell maturation involved in prostate gland development|epithelial tube branching involved in lung morphogenesis|epithelial-mesenchymal signaling involved in prostate gland development|glucose homeostasis|lung epithelial cell differentiation|negative regulation of survival gene product expression|neuron fate specification|pattern specification process|positive regulation of estrogen receptor signaling pathway|positive regulation of mitotic cell cycle|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|prostate gland epithelium morphogenesis|prostate gland stromal morphogenesis|response to estradiol stimulus|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development	transcription factor complex	DNA bending activity|double-stranded DNA binding|protein domain specific binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding	g.chr14:38061223_38061228delTCTCGA	U39840	CCDS9665.1	14q12-q13	2008-04-10		2002-09-20	ENSG00000129514	ENSG00000129514		"Forkhead boxes"	5021	protein-coding gene	gene with protein product		602294	"hepatocyte nuclear factor 3, alpha"	HNF3A		9119385, 8652662	Standard	NM_004496		Approved		uc001wuf.4	P55317	OTTHUMG00000140253	ENST00000250448.2:c.761_766delTCGAGA	14.37:g.38061223_38061228delTCTCGA	ENSP00000250448:p.Phe254_Asn256delinsTyr					FOXA1_ENST00000545425.2_5'UTR|FOXA1_ENST00000540786.1_In_Frame_Del_p.FEN221del	p.FEN254del	NM_004496.3	NP_004487.2	P55317	FOXA1_HUMAN	Lung(238;5.41e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0454)|LUSC - Lung squamous cell carcinoma(13;0.0917)|all cancers(34;0.0925)|BRCA - Breast invasive adenocarcinoma(188;0.239)	GBM - Glioblastoma multiforme(112;0.0222)	2	822_827	-	Breast(36;0.0954)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		254					B2R9H6|B7ZAP5|Q9H2A0	In_Frame_Del	DEL	ENST00000250448.2	37	c.761_766delTCGAGA	CCDS9665.1																																																																																				0.689	FOXA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276735.1			14	17						14	17	---	---	---	---	-	38061228	TCTCGA	-	38061223	7	5	300	1	0	1	0	1	0	0	0	0	5989	1783	62	0	656	0	FOXA1	14	38061223	In_Frame_Del	DEL	TCTCGA	TCGA-KC-A7F5-01A-11D-A33T-08		38061223	69288317	27	14348											
GPR132	29933	broad.mit.edu	37	chr14	105518072	105518072	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aagcggtcgcaggagatgcaGcacaggaagaggatgctgac	13	4	16	8	2	0	3	0	1	0	2	1	6	0	5	0	4	4	4	0	4	2	0			TCGA-KC-A7F5-01A-11D-A33T-08	TCGA-KC-A7F5-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18346a75-5c68-44ad-94d2-2c935cb2b87a	e883ecaa-298d-48b8-929a-0ce5fb7b476b	g.chr14:105518072G>A	ENST00000329797.3	-	4	1313	c.402C>T	c.(400-402)tgC>tgT	p.C134C	GPR132_ENST00000546679.1_5'UTR|GPR132_ENST00000392585.2_Silent_p.C125C|GPR132_ENST00000539291.2_Silent_p.C134C	NM_001278694.1|NM_001278696.1|NM_013345.2	NP_001265623.1|NP_001265625.1|NP_037477.1	Q9UNW8	GP132_HUMAN	G protein-coupled receptor 132	134					G1/S transition of mitotic cell cycle (GO:0000082)|response to stress (GO:0006950)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)	18		all_cancers(154;0.0953)|Melanoma(154;0.155)|all_epithelial(191;0.219)	OV - Ovarian serous cystadenocarcinoma(23;0.00778)|all cancers(16;0.00936)|Epithelial(46;0.0227)	Epithelial(152;0.02)|all cancers(159;0.0419)|OV - Ovarian serous cystadenocarcinoma(161;0.0521)		AGGAGATGCAGCACAGGAAGA	0.632																																						ENST00000329797.3																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)	18						c.(400-402)tgC>tgT		G protein-coupled receptor 132							144	125	131					14																	105518072		2203	4300	6503	SO:0001819	synonymous_variant	29933				response to stress	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr14:105518072G>A	AF083955	CCDS9997.1, CCDS61567.1	14q32.3	2012-08-21			ENSG00000183484	ENSG00000183484		"GPCR / Class A : Orphans"	17482	protein-coding gene	gene with protein product	"G2 accumulation"	606167				12086852	Standard	NM_013345		Approved	G2A	uc001yqd.3	Q9UNW8	OTTHUMG00000140173	ENST00000329797.3:c.402C>T	14.37:g.105518072G>A						GPR132_ENST00000392585.2_Silent_p.C125C|GPR132_ENST00000546679.1_5'UTR|GPR132_ENST00000539291.2_Silent_p.C134C	p.C134C	NM_013345.2	NP_037477.1	Q9UNW8	GP132_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.00778)|all cancers(16;0.00936)|Epithelial(46;0.0227)	Epithelial(152;0.02)|all cancers(159;0.0419)|OV - Ovarian serous cystadenocarcinoma(161;0.0521)	4	1313	-		all_cancers(154;0.0953)|Melanoma(154;0.155)|all_epithelial(191;0.219)	134					A8K7X7|B4E144|Q9BSU2	Silent	SNP	ENST00000329797.3	37	c.402C>T	CCDS9997.1																																																																																				0.632	GPR132-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409278.1	NM_013345		4	128	0	0	0	1	0	4	128					A	105518072	G	A	105518072	2	1	300	1	0	0	0	0	0	0	0	1	6642	963	34	3		3	GPR132	14	105518072	Silent	SNP	G	TCGA-KC-A7F5-01A-11D-A33T-08	67456849	105518072	1831468	28	14349											
CEP152	22995	broad.mit.edu	37	chr15	49048337	49048337	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcatactgatagatttccagTtggatccgcttggcttcctg	7	15	9	10	1	1	2	1	1	0	1	4	3	4	3	3	2	1	3	3	2	2	6			TCGA-KC-A7F5-01A-11D-A33T-08	TCGA-KC-A7F5-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18346a75-5c68-44ad-94d2-2c935cb2b87a	e883ecaa-298d-48b8-929a-0ce5fb7b476b	g.chr15:49048337T>G	ENST00000380950.2	-	20	3295	c.3108A>C	c.(3106-3108)caA>caC	p.Q1036H	CEP152_ENST00000399334.3_Missense_Mutation_p.Q1036H|CEP152_ENST00000325747.5_Missense_Mutation_p.Q943H	NM_001194998.1|NM_014985.3	NP_001181927.1|NP_055800.2	O94986	CE152_HUMAN	centrosomal protein 152kDa	1036					cell projection organization (GO:0030030)|centriole replication (GO:0007099)|centrosome duplication (GO:0051298)|de novo centriole assembly (GO:0098535)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytosol (GO:0005829)|deuterosome (GO:0098536)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)			breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(16)|lung(30)|ovary(1)|prostate(2)|skin(2)	63		all_lung(180;0.0428)		all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06)		AGATTTCCAGTTGGATCCGCT	0.428																																						ENST00000380950.2																			0				breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(16)|lung(30)|ovary(1)|prostate(2)|skin(2)	63						c.(3106-3108)caA>caC		centrosomal protein 152kDa							148	136	139					15																	49048337		1914	4129	6043	SO:0001583	missense	22995				centrosome duplication|G2/M transition of mitotic cell cycle	centrosome|cytosol	protein kinase binding	g.chr15:49048337T>G	AB020719	CCDS42033.1, CCDS58361.1	15q21.1	2014-02-20							29298	protein-coding gene	gene with protein product	"asterless"	613529	"microcephaly, primary autosomal recessive 4"	MCPH4		14654843, 21131973	Standard	NM_014985		Approved	KIAA0912, SCKL5	uc001zwz.3	O94986		ENST00000380950.2:c.3108A>C	15.37:g.49048337T>G	ENSP00000370337:p.Gln1036His					CEP152_ENST00000399334.3_Missense_Mutation_p.Q1036H|CEP152_ENST00000325747.5_Missense_Mutation_p.Q943H	p.Q1036H	NM_001194998.1|NM_014985.3	NP_001181927.1|NP_055800.2	O94986	CE152_HUMAN		all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06)	20	3295	-		all_lung(180;0.0428)	1036					E7ER66|Q17RV1|Q6NTA0	Missense_Mutation	SNP	ENST00000380950.2	37	c.3108A>C	CCDS58361.1	.	.	.	.	.	.	.	.	.	.	T	17.71	3.456776	0.63401	.	.	ENSG00000103995	ENST00000380950;ENST00000325747;ENST00000399334	T;T;T	0.59502	0.26;0.32;0.32	5.49	-1.1	0.09872	.	0.302036	0.31784	N	0.007074	T	0.64875	0.2638	M	0.73598	2.24	0.21822	N	0.999529	D;D;D	0.64830	0.98;0.994;0.99	P;P;P	0.60473	0.735;0.875;0.824	T	0.56092	-0.8036	10	0.66056	D	0.02	-9.9553	6.0869	0.19973	0.0:0.3878:0.1422:0.47	.	943;1036;1036	O94986-1;E7ER66;O94986	.;.;CE152_HUMAN	H	1036;943;1036	ENSP00000370337:Q1036H;ENSP00000321000:Q943H;ENSP00000382271:Q1036H	ENSP00000321000:Q943H	Q	-	3	2	CEP152	46835629	0.309000	0.24518	0.980000	0.43619	0.959000	0.62525	-0.213000	0.09305	0.114000	0.18032	0.482000	0.46254	CAA		0.428	CEP152-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417365.1	NM_014985		51	59	0	0	0	1	0	51	59					G	49048337	T	G	49048337	3	3	300	1	0	0	0	0	1	0	0	0	3248	1722	60	5	1884	5	CEP152	15	49048337	Missense_Mutation	SNP	T	TCGA-KC-A7F5-01A-11D-A33T-08		49048337	53483055	29	14350											
LOC81691	81691	broad.mit.edu	37	chr16	20824563	20824563	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acaactgtgaagtaacccatGaccagctgtgtgaattgctg	12	10	10	9	0	0	3	0	3	0	0	0	3	0	3	2	0	4	3	2	0	4	2			TCGA-KC-A7F5-01A-11D-A33T-08	TCGA-KC-A7F5-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18346a75-5c68-44ad-94d2-2c935cb2b87a	e883ecaa-298d-48b8-929a-0ce5fb7b476b	g.chr16:20824563G>T	ENST00000261377.6	+	3	399	c.190G>T	c.(190-192)Gac>Tac	p.D64Y	AC004381.6_ENST00000348433.6_Missense_Mutation_p.D64Y|AC004381.6_ENST00000564274.1_Missense_Mutation_p.D64Y|ERI2_ENST00000564349.1_Intron|AC004381.6_ENST00000567297.1_3'UTR	NM_001199053.1|NM_030941.2	NP_001185982.1|NP_112203.2																					AGTAACCCATGACCAGCTGTG	0.413																																						ENST00000261377.6																			0											c.(190-192)Gac>Tac									81	77	79					16																	20824563		2201	4300	6501	SO:0001583	missense	0							g.chr16:20824563G>T																												ENST00000261377.6:c.190G>T	16.37:g.20824563G>T	ENSP00000261377:p.Asp64Tyr					AC004381.6_ENST00000567297.1_3'UTR|AC004381.6_ENST00000564274.1_Missense_Mutation_p.D64Y|AC004381.6_ENST00000348433.6_Missense_Mutation_p.D64Y|ERI2_ENST00000564349.1_Intron	p.D64Y	NM_001199053.1|NM_030941.2	NP_001185982.1|NP_112203.2					3	399	+									Missense_Mutation	SNP	ENST00000261377.6	37	c.190G>T	CCDS10591.1	.	.	.	.	.	.	.	.	.	.	G	16.23	3.065275	0.55432	.	.	ENSG00000005189	ENST00000348433;ENST00000261377	T;T	0.33216	1.42;1.84	5.56	3.54	0.40534	.	1.291200	0.04565	N	0.392145	T	0.34279	0.0892	L	0.29908	0.895	0.20307	N	0.999916	P;P	0.48016	0.904;0.823	P;P	0.49561	0.563;0.615	T	0.22871	-1.0204	10	0.62326	D	0.03	1.9675	7.9638	0.30087	0.2039:0.0:0.7961:0.0	.	64;64	Q96IC2-2;Q96IC2	.;REXON_HUMAN	Y	64	ENSP00000261378:D64Y;ENSP00000261377:D64Y	ENSP00000261377:D64Y	D	+	1	0	AC004381.6	20732064	0.574000	0.26684	0.343000	0.25615	0.991000	0.79684	1.494000	0.35616	0.621000	0.30232	0.561000	0.74099	GAC		0.413	AC004381.6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254418.2			3	56	1	0	6.4e-05	1	6.54222e-05	3	56					T	20824563	G	T	20824563	3	4	300	1	0	0	0	0	1	0	0	0	8890	1290	45	5	196	5	LOC81691	16	20824563	Missense_Mutation	SNP	G	TCGA-KC-A7F5-01A-11D-A33T-08		20824563	69530190	30	14351											
NCOR1	9611	broad.mit.edu	37	chr17	16042456	16042456	+	Frame_Shift_Del	DEL	C	C	-																															ctttgttctgcatcaaacatCataggtggaatcacagagag																										TCGA-KC-A7F5-01A-11D-A33T-08	TCGA-KC-A7F5-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18346a75-5c68-44ad-94d2-2c935cb2b87a	e883ecaa-298d-48b8-929a-0ce5fb7b476b	g.chr17:16042456delC	ENST00000268712.3	-	12	1475	c.1218delG	c.(1216-1218)atgfs	p.M407fs	NCOR1_ENST00000395851.1_Frame_Shift_Del_p.M407fs|NCOR1_ENST00000395848.1_Frame_Shift_Del_p.M298fs|RNU6-862P_ENST00000362804.1_RNA	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN	nuclear receptor corepressor 1	407					CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation (GO:0002361)|cellular lipid metabolic process (GO:0044255)|cholesterol homeostasis (GO:0042632)|chromatin modification (GO:0016568)|circadian regulation of gene expression (GO:0032922)|definitive erythrocyte differentiation (GO:0060318)|gene expression (GO:0010467)|negative regulation of JNK cascade (GO:0046329)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of histone deacetylation (GO:0031065)|regulation of fatty acid transport (GO:2000191)|regulation of glycolytic process by negative regulation of transcription from RNA polymerase II promoter (GO:0072362)|regulation of lipid transport by negative regulation of transcription from RNA polymerase II promoter (GO:0072368)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|spindle assembly (GO:0051225)|thalamus development (GO:0021794)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|histone deacetylase binding (GO:0042826)|histone deacetylase regulator activity (GO:0035033)|nuclear hormone receptor binding (GO:0035257)|RNA polymerase II activating transcription factor binding (GO:0001102)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		CATCAAACATCATAGGTGGAA	0.338																																						ENST00000268712.3																			0				NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107						c.(1216-1218)atfs		nuclear receptor corepressor 1							66	62	63					17																	16042456		2203	4300	6503	SO:0001589	frameshift_variant	9611				cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter	nuclear chromatin|spindle microtubule|transcriptional repressor complex	histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding	g.chr17:16042456delC	AF044209	CCDS11175.1, CCDS54094.1, CCDS54095.1	17p11.2	2014-06-12	2010-06-10		ENSG00000141027	ENSG00000141027			7672	protein-coding gene	gene with protein product	"thyroid hormone- and retinoic acid receptor-associated corepressor 1", "protein phosphatase 1, regulatory subunit 109"	600849	"nuclear receptor co-repressor 1"			7566114, 9724795	Standard	NM_006311		Approved	N-CoR, hCIT529I10, TRAC1, hN-CoR, KIAA1047, MGC104216, PPP1R109	uc002gpo.3	O75376	OTTHUMG00000059309	ENST00000268712.3:c.1218delG	17.37:g.16042456delC	ENSP00000268712:p.Met407fs					NCOR1_ENST00000395848.1_Frame_Shift_Del_p.M298fs|NCOR1_ENST00000395851.1_Frame_Shift_Del_p.M407fs	p.M407fs	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.101)	12	1475	-			407					B3DLF8|E9PGV6|Q86YY0|Q9UPV5|Q9UQ18	Frame_Shift_Del	DEL	ENST00000268712.3	37	c.1218delG	CCDS11175.1																																																																																				0.338	NCOR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131751.5	NM_006311		27	62						27	62	---	---	---	---	-	16042456	C	-	16042456	7	5	300	1	0	1	0	1	0	0	0	0	10235	826	29	0	6244	0	NCOR1	17	16042456	Frame_Shift_Del	DEL	C	TCGA-KC-A7F5-01A-11D-A33T-08		16042456	65152754	31	14352											
SPOP	8405	broad.mit.edu	37	chr17	47696644	47696644	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	attcaggatggagaatttgaAttttgcccgaacttcactct	11	14	8	8	1	3	2	2	1	1	1	3	5	3	3	1	2	2	0	1	2	3	5			TCGA-KC-A7F5-01A-11D-A33T-08	TCGA-KC-A7F5-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18346a75-5c68-44ad-94d2-2c935cb2b87a	e883ecaa-298d-48b8-929a-0ce5fb7b476b	g.chr17:47696644A>C	ENST00000393328.2	-	5	669	c.304T>G	c.(304-306)Ttc>Gtc	p.F102V	SPOP_ENST00000513080.1_5'Flank|SPOP_ENST00000503676.1_Missense_Mutation_p.F102V|SPOP_ENST00000393331.3_Missense_Mutation_p.F102V|SPOP_ENST00000347630.2_Missense_Mutation_p.F102V|SPOP_ENST00000504102.1_Missense_Mutation_p.F102V	NM_003563.3	NP_003554.1	O43791	SPOP_HUMAN	speckle-type POZ protein	102	MATH. {ECO:0000255|PROSITE- ProRule:PRU00129}.|Required for nuclear localization.				glucose homeostasis (GO:0042593)|positive regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902237)|positive regulation of type B pancreatic cell apoptotic process (GO:2000676)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	Cul3-RING ubiquitin ligase complex (GO:0031463)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	ubiquitin protein ligase binding (GO:0031625)			endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						GAGAATTTGAATTTTGCCCGA	0.408										Prostate(2;0.17)																												ENST00000393331.3																			0				endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						c.(304-306)Ttc>Gtc		speckle-type POZ protein							147	136	140					17																	47696644		2203	4300	6503	SO:0001583	missense	8405				mRNA processing	nucleus	protein binding	g.chr17:47696644A>C	AJ000644	CCDS11551.1	17q21.33	2013-01-09			ENSG00000121067	ENSG00000121067		"BTB/POZ domain containing"	11254	protein-coding gene	gene with protein product		602650				9414087	Standard	NM_001007227		Approved	TEF2, BTBD32	uc002ipg.3	O43791	OTTHUMG00000161496	ENST00000393328.2:c.304T>G	17.37:g.47696644A>C	ENSP00000377001:p.Phe102Val	Prostate(2;0.17)				SPOP_ENST00000504102.1_Missense_Mutation_p.F102V|SPOP_ENST00000503676.1_Missense_Mutation_p.F102V|SPOP_ENST00000393328.2_Missense_Mutation_p.F102V|SPOP_ENST00000347630.2_Missense_Mutation_p.F102V	p.F102V	NM_001007226.1|NM_001007227.1	NP_001007227.1|NP_001007228.1	O43791	SPOP_HUMAN			6	774	-			102			MATH.|Required for nuclear localization.		B2R6S3|D3DTW7|Q53HJ1	Missense_Mutation	SNP	ENST00000393328.2	37	c.304T>G	CCDS11551.1	.	.	.	.	.	.	.	.	.	.	A	23.9	4.465429	0.84425	.	.	ENSG00000121067	ENST00000393328;ENST00000393331;ENST00000347630;ENST00000504102;ENST00000503676;ENST00000513872;ENST00000509079;ENST00000505581;ENST00000507970;ENST00000514121;ENST00000515508	T;T;T;T;T;T;T;T;T;T	0.66815	-0.23;-0.23;-0.23;-0.23;-0.23;-0.23;-0.23;-0.23;-0.23;-0.23	5.52	5.52	0.82312	TRAF-type (1);TRAF-like (1);MATH (3);	0.000000	0.85682	D	0.000000	T	0.77046	0.4073	L	0.48986	1.54	0.80722	D	1	D	0.76494	0.999	D	0.78314	0.991	T	0.75869	-0.3165	10	0.39692	T	0.17	-11.8278	15.4649	0.75390	1.0:0.0:0.0:0.0	.	102	O43791	SPOP_HUMAN	V	102;102;102;102;102;55;102;102;102;102;102	ENSP00000377001:F102V;ENSP00000377004:F102V;ENSP00000240327:F102V;ENSP00000425905:F102V;ENSP00000420908:F102V;ENSP00000426986:F102V;ENSP00000420960:F102V;ENSP00000426262:F102V;ENSP00000424119:F102V;ENSP00000426537:F102V	ENSP00000240327:F102V	F	-	1	0	SPOP	45051643	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.135000	0.94478	2.317000	0.78254	0.460000	0.39030	TTC		0.408	SPOP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365154.2	NM_003563		40	66	0	0	0	1	0	40	66					C	47696644	A	C	47696644	3	2	300	1	0	0	0	0	1	0	0	0	15083	101	4	5	848	5	SPOP	17	47696644	Missense_Mutation	SNP	A	TCGA-KC-A7F5-01A-11D-A33T-08	31654188	47696644	33498566	32	14353											
ASXL3	80816	broad.mit.edu	37	chr18	31323309	31323309	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tattgtcaatccaaactgtaGatctcctagcaacaagtctg	13	12	6	10	0	3	1	1	0	2	1	5	1	4	1	2	0	3	2	2	0	7	4			TCGA-KC-A7F5-01A-11D-A33T-08	TCGA-KC-A7F5-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18346a75-5c68-44ad-94d2-2c935cb2b87a	e883ecaa-298d-48b8-929a-0ce5fb7b476b	g.chr18:31323309G>A	ENST00000269197.5	+	12	3497	c.3497G>A	c.(3496-3498)aGa>aAa	p.R1166K		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like transcriptional regulator 3	1166					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						CCAAACTGTAGATCTCCTAGC	0.463																																						ENST00000269197.5																			0				breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						c.(3496-3498)aGa>aAa		additional sex combs like 3 (Drosophila)							47	46	46					18																	31323309		1922	4133	6055	SO:0001583	missense	80816				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding	g.chr18:31323309G>A	AB051500	CCDS45847.1	18q11	2014-06-17	2014-06-17	2007-02-01		ENSG00000141431			29357	protein-coding gene	gene with protein product		615115	"KIAA1713", "additional sex combs like 3 (Drosophila)"	KIAA1713		11214970	Standard	NM_030632		Approved		uc010dmg.1	Q9C0F0		ENST00000269197.5:c.3497G>A	18.37:g.31323309G>A	ENSP00000269197:p.Arg1166Lys						p.R1166K	NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN			12	3497	+			1166					Q6ZMX6|Q96MU3|Q9UFC5	Missense_Mutation	SNP	ENST00000269197.5	37	c.3497G>A	CCDS45847.1	.	.	.	.	.	.	.	.	.	.	G	14.46	2.541365	0.45280	.	.	ENSG00000141431	ENST00000269197	T	0.49139	0.79	5.91	5.91	0.95273	.	1.626760	0.03093	N	0.160091	T	0.36663	0.0975	N	0.16478	0.41	0.30858	N	0.73385	B	0.32071	0.355	B	0.24974	0.057	T	0.15925	-1.0420	10	0.23302	T	0.38	.	13.4901	0.61390	0.0711:0.0:0.9289:0.0	.	1166	Q9C0F0	ASXL3_HUMAN	K	1166	ENSP00000269197:R1166K	ENSP00000269197:R1166K	R	+	2	0	ASXL3	29577307	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.489000	0.66875	2.802000	0.96397	0.655000	0.94253	AGA		0.463	ASXL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441865.2			18	24	0	0	0	1	0	18	24					A	31323309	G	A	31323309	3	1	300	1	0	0	0	0	1	0	0	0	1068	942	33	3	3543	3	ASXL3	18	31323309	Missense_Mutation	SNP	G	TCGA-KC-A7F5-01A-11D-A33T-08		31323309	46753939	33	14354											
POLR2E	5434	broad.mit.edu	37	chr19	1089510	1089510	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gcaccagccggtaggtgatgTacctgccagccgtctcactg	7	8	12	14	2	1	1	1	1	1	0	2	1	1	1	5	2	4	3	5	2	2	2			TCGA-KC-A7F5-01A-11D-A33T-08	TCGA-KC-A7F5-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18346a75-5c68-44ad-94d2-2c935cb2b87a	e883ecaa-298d-48b8-929a-0ce5fb7b476b	g.chr19:1089510T>C	ENST00000215587.7	-	7	891	c.608A>G	c.(607-609)tAc>tGc	p.Y203C	POLR2E_ENST00000586746.1_Missense_Mutation_p.Y203C|POLR2E_ENST00000585838.1_5'UTR			P19388	RPAB1_HUMAN	polymerase (RNA) II (DNA directed) polypeptide E, 25kDa	203					7-methylguanosine mRNA capping (GO:0006370)|DNA repair (GO:0006281)|gene expression (GO:0010467)|innate immune response (GO:0045087)|mRNA splicing, via spliceosome (GO:0000398)|nucleotide-excision repair (GO:0006289)|positive regulation of type I interferon production (GO:0032481)|positive regulation of viral transcription (GO:0050434)|RNA splicing (GO:0008380)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription from RNA polymerase III promoter (GO:0006383)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032)	cytosol (GO:0005829)|DNA-directed RNA polymerase I complex (GO:0005736)|DNA-directed RNA polymerase II, core complex (GO:0005665)|DNA-directed RNA polymerase III complex (GO:0005666)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|skin(2)	11		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GTAGGTGATGTACCTGCCAGC	0.637																																						ENST00000215587.7																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|skin(2)	11						c.(607-609)tAc>tGc		polymerase (RNA) II (DNA directed) polypeptide E, 25kDa							79	61	67					19																	1089510		2203	4299	6502	SO:0001583	missense	5434				interspecies interaction between organisms|mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase II promoter|transcription elongation from RNA polymerase III promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity	g.chr19:1089510T>C		CCDS12056.1	19p13.3	2013-01-21	2002-08-29			ENSG00000099817		"RNA polymerase subunits"	9192	protein-coding gene	gene with protein product	"DNA directed RNA polymerase II 23 kda polypeptide"	180664	"polymerase (RNA) II (DNA directed) polypeptide E (25kD)"			8034326	Standard	NM_002695		Approved	RPB5, RPABC1, XAP4, hRPB25, hsRPB5	uc002lre.4	P19388		ENST00000215587.7:c.608A>G	19.37:g.1089510T>C	ENSP00000215587:p.Tyr203Cys					POLR2E_ENST00000585838.1_5'UTR|POLR2E_ENST00000586746.1_Missense_Mutation_p.Y203C	p.Y203C			P19388	RPAB1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	7	891	-		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)	203					B2R6L4|D6W5Y1|O43380|Q6PIH5|Q9BT06	Missense_Mutation	SNP	ENST00000215587.7	37	c.608A>G	CCDS12056.1	.	.	.	.	.	.	.	.	.	.	T	18.90	3.720751	0.68959	.	.	ENSG00000099817	ENST00000215587	T	0.53857	0.6	3.76	3.76	0.43208	RNA polymerase, subunit H/Rpb5 C-terminal (4);	0.000000	0.85682	D	0.000000	D	0.82508	0.5052	H	0.99090	4.425	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.87772	0.2606	10	0.87932	D	0	7.1917	11.3665	0.49675	0.0:0.0:0.0:1.0	.	203	P19388	RPAB1_HUMAN	C	203	ENSP00000215587:Y203C	ENSP00000215587:Y203C	Y	-	2	0	POLR2E	1040510	1.000000	0.71417	1.000000	0.80357	0.882000	0.50991	7.499000	0.81566	1.371000	0.46172	0.397000	0.26171	TAC		0.637	POLR2E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458044.1	NM_002695		16	26	0	0	0	1	0	16	26					C	1089510	T	C	1089510	3	2	300	1	0	0	0	0	1	0	0	0	12218	1638	57	4	28	4	POLR2E	19	1089510	Missense_Mutation	SNP	T	TCGA-KC-A7F5-01A-11D-A33T-08		1089510	58039473	34	14355											
C19orf33	64073	broad.mit.edu	37	chr19	38795558	38795566	+	In_Frame_Del	DEL	AGAAGGGCA	AGAAGGGCA	-																															gcccaaagtgaagaagaaggAgaagggcaagaaggagaagg																										TCGA-KC-A7F5-01A-11D-A33T-08	TCGA-KC-A7F5-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18346a75-5c68-44ad-94d2-2c935cb2b87a	e883ecaa-298d-48b8-929a-0ce5fb7b476b	g.chr19:38795558_38795566delAGAAGGGCA	ENST00000301246.5	+	4	376_384	c.275_283delAGAAGGGCA	c.(274-285)gagaagggcaag>gag	p.KGK93del	C19orf33_ENST00000588605.1_3'UTR	NM_033520.1	NP_277055.1	Q9GZP8	IMUP_HUMAN	chromosome 19 open reading frame 33	93						nucleus (GO:0005634)						all_cancers(60;1.07e-06)		Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			aagaagaaggagaagggcaagaaggagaa	0.608																																						ENST00000301246.5																			0											c.(274-285)gag>g		chromosome 19 open reading frame 33																																				SO:0001651	inframe_deletion	64073					nucleus		g.chr19:38795558_38795566delAGAAGGGCA	AF213678	CCDS12511.1	19q13.2	2012-10-26			ENSG00000167644	ENSG00000167644			16668	protein-coding gene	gene with protein product	"immortalization-upregulated protein", "HAI-2 related small protein", "hepatocyte growth factor activator inhibitor type 2-related small protein"					11080599	Standard	NM_033520		Approved	IMUP-1, IMUP-2, H2RSP, IMUP	uc002ohu.1	Q9GZP8	OTTHUMG00000181894	ENST00000301246.5:c.275_283delAGAAGGGCA	19.37:g.38795558_38795566delAGAAGGGCA	ENSP00000301246:p.Lys93_Lys95del					C19orf33_ENST00000588605.1_3'UTR	p.EKGK92del	NM_033520.1	NP_277055.1	Q9GZP8	IMUP_HUMAN	Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)		4	376_384	+	all_cancers(60;1.07e-06)		92					Q0P6G2|Q96H58|Q9HCR4	In_Frame_Del	DEL	ENST00000301246.5	37	c.275_283delAGAAGGGCA	CCDS12511.1																																																																																				0.608	C19orf33-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000458168.1	NM_033520		10	21						10	21	---	---	---	---	-	38795566	AGAAGGGCA	-	38795558	7	5	300	1	0	1	0	1	0	0	0	0	1919	304	11	0	289	0	C19orf33	19	38795558	In_Frame_Del	DEL	AGAAGGGCA	TCGA-KC-A7F5-01A-11D-A33T-08	37706048	38795558	20333425	35	14356											
ERF	2077	broad.mit.edu	37	chr19	42753613	42753614	+	Frame_Shift_Ins	INS	-	-	T																															gggccagcgggggccctcggINSaaggcacccagatccggagg																										TCGA-KC-A7F5-01A-11D-A33T-08	TCGA-KC-A7F5-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18346a75-5c68-44ad-94d2-2c935cb2b87a	e883ecaa-298d-48b8-929a-0ce5fb7b476b	g.chr19:42753613_42753614insT	ENST00000222329.4	-	4	807_808	c.650_651insA	c.(649-651)ttcfs	p.F217fs	AC006486.9_ENST00000594664.1_Intron|ERF_ENST00000595941.1_5'Flank|ERF_ENST00000440177.2_Frame_Shift_Ins_p.F142fs	NM_006494.2	NP_006485.2	P50548	ERF_HUMAN	Ets2 repressor factor	217					cell cycle (GO:0007049)|cell differentiation (GO:0030154)|chorio-allantoic fusion (GO:0060710)|ectodermal cell differentiation (GO:0010668)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)|trophoblast giant cell differentiation (GO:0060707)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|transcription corepressor activity (GO:0003714)			central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(7)|skin(1)	17		Prostate(69;0.00682)				GGGGCCCTCGGAAGGCACCCAG	0.693																																						ENST00000222329.4																			0				central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(7)|skin(1)	17						c.(649-651)tcgfs		Ets2 repressor factor																																				SO:0001589	frameshift_variant	2077				cell proliferation|regulation of transcription from RNA polymerase II promoter	nucleus	ligand-regulated transcription factor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr19:42753613_42753614insT	U58535	CCDS12600.1	19q13	2008-07-16				ENSG00000105722			3444	protein-coding gene	gene with protein product	"Ets2 repressor factor"	611888				7588608, 9192842	Standard	XM_005258644		Approved	PE-2, PE2	uc002ote.4	P50548		ENST00000222329.4:c.650_651insA	19.37:g.42753613_42753614insT	ENSP00000222329:p.Phe217fs					AC006486.9_ENST00000594664.1_Intron|ERF_ENST00000440177.2_Frame_Shift_Ins_p.S142fs	p.S217fs	NM_006494.2	NP_006485.2	P50548	ERF_HUMAN			4	807_808	-		Prostate(69;0.00682)	217					B2RAP1|B7Z4R0|Q59G38|Q9UPI7	Frame_Shift_Ins	INS	ENST00000222329.4	37	c.650_651insA	CCDS12600.1																																																																																				0.693	ERF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463684.1	NM_006494		6	10						6	10	---	---	---	---	T	42753614	-	T	42753613	7	5	300	1	0	1	1	0	0	0	0	0	5221	1165	41	0	999	0	ERF	19	42753613	Frame_Shift_Ins	INS	-	TCGA-KC-A7F5-01A-11D-A33T-08	3958055	42753613	16375370	36	14357											
TPTE	7179	broad.mit.edu	37	chr21	10951330	10951330	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcaatagctagagaaatagAacgatactccaaaggaatat	19	7	9	6	1	0	2	0	0	0	2	1	5	1	3	1	2	3	2	1	2	10	5			TCGA-KC-A7F5-01A-11D-A33T-08	TCGA-KC-A7F5-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18346a75-5c68-44ad-94d2-2c935cb2b87a	e883ecaa-298d-48b8-929a-0ce5fb7b476b	g.chr21:10951330A>C	ENST00000361285.4	-	10	711	c.382T>G	c.(382-384)Tct>Gct	p.S128A	TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000298232.7_Missense_Mutation_p.S110A|TPTE_ENST00000342420.5_Missense_Mutation_p.S90A	NM_199261.2	NP_954870	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	128					peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	ion channel activity (GO:0005216)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		AGAGAAATAGAACGATACTCC	0.343																																						ENST00000298232.7																			0				NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130						c.(328-330)Tct>Gct		transmembrane phosphatase with tensin homology							97	105	102					21																	10951330		2203	4297	6500	SO:0001583	missense	7179				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr21:10951330A>C	AF007118	CCDS74771.1, CCDS74772.1, CCDS74773.1	21p11	2011-06-09			ENSG00000166157	ENSG00000274391		"Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"	12023	protein-coding gene	gene with protein product	"PTEN-related tyrosine phosphatase", "cancer/testis antigen 44"	604336				10830953, 14659893	Standard	NM_001290224		Approved	PTEN2, CT44	uc002yip.1	P56180	OTTHUMG00000074127	ENST00000361285.4:c.382T>G	21.37:g.10951330A>C	ENSP00000355208:p.Ser128Ala					TPTE_ENST00000361285.4_Missense_Mutation_p.S128A|TPTE_ENST00000342420.5_Missense_Mutation_p.S90A|TPTE_ENST00000415664.2_5'UTR	p.S110A	NM_199259.2	NP_954868.1	P56180	TPTE_HUMAN	Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	9	695	-			128					B2RAP7|C9J6D6|C9JKK8|Q6XPS4|Q6XPS5|Q71JA8|Q8NCS8	Missense_Mutation	SNP	ENST00000361285.4	37	c.328T>G	CCDS13560.2	.	.	.	.	.	.	.	.	.	.	.	6.975	0.549820	0.13374	.	.	ENSG00000166157	ENST00000298232;ENST00000361285;ENST00000342420;ENST00000328758	D;D;D	0.97161	-4.27;-4.27;-4.27	1.8	0.502	0.16932	.	0.721150	0.12533	N	0.460643	D	0.92711	0.7683	L	0.40543	1.245	0.09310	N	0.999998	B;B;B	0.20261	0.002;0.012;0.043	B;B;B	0.25987	0.007;0.023;0.065	T	0.82870	-0.0243	10	0.18710	T	0.47	0.5313	4.7896	0.13241	0.6761:0.3239:0.0:0.0	.	90;110;128	P56180-3;P56180-2;P56180	.;.;TPTE_HUMAN	A	110;128;90;110	ENSP00000298232:S110A;ENSP00000355208:S128A;ENSP00000344441:S90A	ENSP00000298232:S110A	S	-	1	0	TPTE	9973201	0.000000	0.05858	0.070000	0.20053	0.147000	0.21601	0.263000	0.18478	0.123000	0.18342	0.163000	0.16589	TCT		0.343	TPTE-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000157413.1			37	114	0	0	0	1	0	37	114					C	10951330	A	C	10951330	3	2	300	1	0	0	0	0	1	0	0	0	16427	246	9	5	1333	5	TPTE	21	10951330	Missense_Mutation	SNP	A	TCGA-KC-A7F5-01A-11D-A33T-08		10951330	37178565	37	14358											
KRTAP10-5	386680	broad.mit.edu	37	chr21	46000248	46000248	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggctggcagcacgagggcgTgcaggagctggtgcagcctg	6	5	19	11	3	0	0	0	0	0	0	0	2	0	1	1	5	5	6	1	5	0	0			TCGA-KC-A7F5-01A-11D-A33T-08	TCGA-KC-A7F5-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18346a75-5c68-44ad-94d2-2c935cb2b87a	e883ecaa-298d-48b8-929a-0ce5fb7b476b	g.chr21:46000248T>A	ENST00000400372.1	-	1	233	c.208A>T	c.(208-210)Acg>Tcg	p.T70S	TSPEAR_ENST00000323084.4_Intron	NM_198694.2	NP_941967.2	P60370	KR105_HUMAN	keratin associated protein 10-5	70	22 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)				endometrium(2)|kidney(1)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	14						cacgagggcgtgcaggAGCTG	0.706																																						ENST00000400372.1																			0				endometrium(2)|kidney(1)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	14						c.(208-210)Acg>Tcg		keratin associated protein 10-5							43	46	45					21																	46000248		2197	4295	6492	SO:0001583	missense	386680					keratin filament		g.chr21:46000248T>A	AJ566384	CCDS42958.1	21q22.3	2007-10-05			ENSG00000241123	ENSG00000241123		"Keratin associated proteins"	22969	protein-coding gene	gene with protein product				KRTAP18-5			Standard	NM_198694		Approved	KAP10.5, KAP18.5	uc002zfl.1	P60370	OTTHUMG00000057638	ENST00000400372.1:c.208A>T	21.37:g.46000248T>A	ENSP00000383223:p.Thr70Ser					TSPEAR_ENST00000323084.4_Intron	p.T70S	NM_198694.2	NP_941967.2	P60370	KR105_HUMAN			1	233	-			70			22 X 5 AA repeats of C-C-X(3).		Q0VAR7|Q0VAR8|Q70LJ3	Missense_Mutation	SNP	ENST00000400372.1	37	c.208A>T	CCDS42958.1	.	.	.	.	.	.	.	.	.	.	t	0.509	-0.867272	0.02590	.	.	ENSG00000241123	ENST00000400372	T	0.00675	5.88	2.28	1.13	0.20643	.	.	.	.	.	T	0.01029	0.0034	M	0.77103	2.36	0.09310	N	1	B	0.29508	0.246	B	0.22601	0.04	T	0.44817	-0.9303	9	0.20519	T	0.43	.	3.482	0.07606	0.0:0.2115:0.0:0.7885	.	70	P60370	KR105_HUMAN	S	70	ENSP00000383223:T70S	ENSP00000383223:T70S	T	-	1	0	KRTAP10-5	44824676	0.041000	0.20044	0.286000	0.24833	0.002000	0.02628	-0.139000	0.10358	1.042000	0.40150	0.369000	0.22263	ACG		0.706	KRTAP10-5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128042.1			45	40	0	0	0	1	0	45	40					A	46000248	T	A	46000248	3	1	300	1	0	0	0	0	1	0	0	0	8512	1696	59	5	611	5	KRTAP10-5	21	46000248	Missense_Mutation	SNP	T	TCGA-KC-A7F5-01A-11D-A33T-08	35048918	46000248	2129647	38	14359											
PDGFB	5155	broad.mit.edu	37	chr22	39627771	39627771	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atgaggcgccgggagatctcGaacacctcggtgcgcgtctt	7	8	14	12	6	2	2	0	1	2	1	4	4	2	2	2	3	2	0	2	3	1	1			TCGA-KC-A7F5-01A-11D-A33T-08	TCGA-KC-A7F5-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18346a75-5c68-44ad-94d2-2c935cb2b87a	e883ecaa-298d-48b8-929a-0ce5fb7b476b	g.chr22:39627771G>A	ENST00000331163.6	-	4	1099	c.312C>T	c.(310-312)ttC>ttT	p.F104F	PDGFB_ENST00000381551.4_Silent_p.F89F	NM_002608.2	NP_002599.1	P01127	PDGFB_HUMAN	platelet-derived growth factor beta polypeptide	104					actin cytoskeleton organization (GO:0030036)|activation of protein kinase activity (GO:0032147)|activation of protein kinase B activity (GO:0032148)|blood coagulation (GO:0007596)|blood vessel morphogenesis (GO:0048514)|branching involved in salivary gland morphogenesis (GO:0060445)|cell chemotaxis (GO:0060326)|cell growth (GO:0016049)|cell projection assembly (GO:0030031)|cellular response to growth factor stimulus (GO:0071363)|cellular response to mycophenolic acid (GO:0071506)|DNA replication (GO:0006260)|embryonic placenta development (GO:0001892)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell proliferation involved in salivary gland morphogenesis (GO:0060664)|extracellular matrix organization (GO:0030198)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|metanephric glomerular endothelium development (GO:0072264)|metanephric glomerular mesangial cell development (GO:0072255)|metanephric glomerular mesangial cell proliferation involved in metanephros development (GO:0072262)|monocyte chemotaxis (GO:0002548)|negative regulation of cell migration (GO:0030336)|negative regulation of phosphatidylinositol biosynthetic process (GO:0010512)|negative regulation of platelet activation (GO:0010544)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|paracrine signaling (GO:0038001)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive chemotaxis (GO:0050918)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of calcium ion import (GO:0090280)|positive regulation of cell division (GO:0051781)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chemotaxis (GO:0050921)|positive regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045737)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of DNA replication (GO:0045740)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast growth factor receptor signaling pathway (GO:0045743)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of glomerular filtration (GO:0003104)|positive regulation of glomerular mesangial cell proliferation (GO:0072126)|positive regulation of hyaluronan biosynthetic process (GO:1900127)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of metanephric mesenchymal cell migration (GO:2000591)|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway (GO:0035793)|positive regulation of mitosis (GO:0045840)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein autophosphorylation (GO:0031954)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of smooth muscle cell migration (GO:0014911)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|reactive oxygen species metabolic process (GO:0072593)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to hypoxia (GO:0001666)|response to insulin (GO:0032868)|response to wounding (GO:0009611)|substrate-dependent cell migration (GO:0006929)|transforming growth factor beta receptor signaling pathway (GO:0007179)	basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi membrane (GO:0000139)|platelet alpha granule lumen (GO:0031093)	chemoattractant activity (GO:0042056)|collagen binding (GO:0005518)|growth factor activity (GO:0008083)|identical protein binding (GO:0042802)|platelet-derived growth factor binding (GO:0048407)|platelet-derived growth factor receptor binding (GO:0005161)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|superoxide-generating NADPH oxidase activator activity (GO:0016176)		COL1A1/PDGFB(429)	central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(2)	7	Melanoma(58;0.04)					GGGAGATCTCGAACACCTCGG	0.647			T	COL1A1	DFSP																																	ENST00000331163.6				Dom	yes		22	22q12.3-q13.1	5155	T	platelet-derived growth factor beta polypeptide (simian sarcoma viral (v-sis) oncogene homolog)			M	COL1A1		DFSP	COL1A1/PDGFB(429)	0				central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(2)	7						c.(310-312)ttC>ttT		platelet-derived growth factor beta polypeptide	Becaplermin(DB00102)						55	45	48					22																	39627771		2203	4300	6503	SO:0001819	synonymous_variant	5155				activation of protein kinase B activity|cellular response to mycophenolic acid|embryonic placenta development|heart development|hemopoiesis|metanephric glomerular mesangial cell development|monocyte chemotaxis|negative regulation of phosphatidylinositol biosynthetic process|negative regulation of platelet activation|negative regulation of transcription, DNA-dependent|paracrine signaling|peptidyl-serine phosphorylation|peptidyl-tyrosine phosphorylation|platelet activation|platelet degranulation|positive regulation of blood vessel endothelial cell migration|positive regulation of calcium ion import|positive regulation of cell division|positive regulation of chemotaxis|positive regulation of cyclin-dependent protein kinase activity|positive regulation of DNA biosynthetic process|positive regulation of DNA replication|positive regulation of endothelial cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of fibroblast proliferation|positive regulation of glomerular filtration|positive regulation of glomerular mesangial cell proliferation|positive regulation of MAP kinase activity|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of mitosis|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein autophosphorylation|positive regulation of protein tyrosine kinase activity|positive regulation of reactive oxygen species metabolic process|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|positive regulation of transcription, DNA-dependent|reactive oxygen species metabolic process|transforming growth factor beta receptor signaling pathway	basolateral plasma membrane|cell surface|endoplasmic reticulum lumen|extracellular region|Golgi membrane|platelet alpha granule lumen	collagen binding|eukaryotic cell surface binding|growth factor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein heterodimerization activity|protein homodimerization activity|superoxide-generating NADPH oxidase activator activity	g.chr22:39627771G>A		CCDS13987.1, CCDS33650.1	22q13.1	2012-10-02	2011-05-19		ENSG00000100311	ENSG00000100311			8800	protein-coding gene	gene with protein product	"oncogene SIS", "becaplermin"	190040	"platelet-derived growth factor beta polypeptide (simian sarcoma viral (v-sis) oncogene homolog)"	SIS		2991848, 1661670	Standard	NM_002608		Approved	SSV	uc003axf.3	P01127	OTTHUMG00000151029	ENST00000331163.6:c.312C>T	22.37:g.39627771G>A						PDGFB_ENST00000381551.4_Silent_p.F89F	p.F104F	NM_002608.2	NP_002599.1	P01127	PDGFB_HUMAN			4	1099	-	Melanoma(58;0.04)		104					G3XAG8|P78431|Q15354|Q6FHE7|Q9UF23	Silent	SNP	ENST00000331163.6	37	c.312C>T	CCDS13987.1																																																																																				0.647	PDGFB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321043.1	NM_002608		14	8	0	0	0	1	0	14	8					A	39627771	G	A	39627771	2	1	300	1	0	0	0	0	0	0	0	1	11658	1049	37	2		2	PDGFB	22	39627771	Silent	SNP	G	TCGA-KC-A7F5-01A-11D-A33T-08		39627771	11676795	39	14360											
CT47B1	643311	broad.mit.edu	37	chrX	120007806	120007806	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atccttctctttttcttgttCtttctcttcctcgcctgcag	2	21	4	14	1	4	0	0	0	4	0	9	0	6	0	3	0	1	2	3	0	0	7			TCGA-KC-A7F5-01A-11D-A33T-08	TCGA-KC-A7F5-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18346a75-5c68-44ad-94d2-2c935cb2b87a	e883ecaa-298d-48b8-929a-0ce5fb7b476b	g.chrX:120007806C>A	ENST00000371311.3	-	2	1098	c.844G>T	c.(844-846)Gaa>Taa	p.E282*		NM_001145718.1	NP_001139190.1	P0C2W7	CT47B_HUMAN	cancer/testis antigen family 47, member B1	282										breast(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|lung(9)|ovary(1)|skin(1)	22						TTTTCTTGTTCTTTCTCTTCC	0.458																																						ENST00000371311.3																			0				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|lung(9)|ovary(1)|skin(1)	22						c.(844-846)Gaa>Taa		cancer/testis antigen family 47, member B1																																				SO:0001587	stop_gained	643311							g.chrX:120007806C>A		CCDS48161.1	Xq24	2014-05-06	2011-03-24		ENSG00000236446	ENSG00000236446			33293	protein-coding gene	gene with protein product	"cancer/testis CT47 family, member 13"	300790				16382448	Standard	NM_001145718		Approved	CT47.13	uc011muc.2	P0C2W7	OTTHUMG00000187483	ENST00000371311.3:c.844G>T	X.37:g.120007806C>A	ENSP00000360360:p.Glu282*						p.E282*	NM_001145718.1	NP_001139190.1	P0C2W7	CT47B_HUMAN			2	1098	-			282					A6NM97	Nonsense_Mutation	SNP	ENST00000371311.3	37	c.844G>T	CCDS48161.1	.	.	.	.	.	.	.	.	.	.	C	17.62	3.435478	0.62955	.	.	ENSG00000236446	ENST00000371311	.	.	.	1.38	1.38	0.22167	.	0.758300	0.10746	U	0.638831	.	.	.	.	.	.	0.33993	A	0.649387	.	.	.	.	.	.	.	.	.	.	0.35671	T	0.21	.	5.7776	0.18287	0.0:1.0:0.0:0.0	.	.	.	.	X	282	.	ENSP00000360360:E282X	E	-	1	0	CT47B1	119891834	0.008000	0.16893	0.034000	0.17996	0.041000	0.13682	0.487000	0.22356	1.000000	0.39049	0.279000	0.19357	GAA		0.458	CT47B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058121.1	NM_001145718		321	30	1	0	6.69537e-141	1	7.69967e-141	321	30					A	120007806	C	A	120007806	4	1	300	1	0	0	0	0	0	1	0	0	3989	922	32	5	59	5	CT47B1	23	120007806	Nonsense_Mutation	SNP	C	TCGA-KC-A7F5-01A-11D-A33T-08		120007806	35262754	40	14361											
UBXN10	127733	broad.mit.edu	37	chr1	20517106	20517106	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacctgagtgtagcactgttGtcagcacagcagttgacagc	10	9	11	11	0	1	2	1	2	0	0	1	2	1	2	1	0	4	6	1	0	1	3			TCGA-KC-A7F6-01A-11D-A33T-08	TCGA-KC-A7F6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2de10b8-8e9d-4cf0-bc63-b624df4eca9d	6b09169a-4356-4d2b-a82b-0ac0e7bceb74	g.chr1:20517106G>A	ENST00000375099.3	+	2	136	c.52G>A	c.(52-54)Gtc>Atc	p.V18I		NM_152376.3	NP_689589.1	Q96LJ8	UBX10_HUMAN	UBX domain protein 10	18										endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|ovary(2)|skin(2)	14						TAGCACTGTTGTCAGCACAGC	0.517																																						ENST00000375099.3																			0				endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|ovary(2)|skin(2)	14						c.(52-54)Gtc>Atc		UBX domain protein 10							97	89	91					1																	20517106		2203	4300	6503	SO:0001583	missense	127733							g.chr1:20517106G>A	AK058158	CCDS205.1	1p36.13	2008-07-25	2008-07-25	2008-07-25	ENSG00000162543	ENSG00000162543		"UBX domain containing"	26354	protein-coding gene	gene with protein product			"UBX domain containing 3"	UBXD3		12477932	Standard	NM_152376		Approved	FLJ25429	uc001bdb.3	Q96LJ8	OTTHUMG00000002708	ENST00000375099.3:c.52G>A	1.37:g.20517106G>A	ENSP00000364240:p.Val18Ile						p.V18I	NM_152376.3	NP_689589.1	Q96LJ8	UBX10_HUMAN			2	136	+			18					Q5R386	Missense_Mutation	SNP	ENST00000375099.3	37	c.52G>A	CCDS205.1	.	.	.	.	.	.	.	.	.	.	G	0.006	-2.028266	0.00410	.	.	ENSG00000162543	ENST00000375099	.	.	.	5.1	0.54	0.17163	.	1.395620	0.04945	N	0.459237	T	0.13970	0.0338	N	0.04508	-0.205	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.21690	-1.0238	9	0.06236	T	0.91	-0.7739	2.9758	0.05937	0.1692:0.2629:0.4461:0.1219	.	18	Q96LJ8	UBX10_HUMAN	I	18	.	ENSP00000364240:V18I	V	+	1	0	UBXN10	20389693	0.000000	0.05858	0.000000	0.03702	0.014000	0.08584	-0.593000	0.05740	0.172000	0.19760	-0.254000	0.11334	GTC		0.517	UBXN10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007693.1	NM_152376		18	76	0	0	0	1	0	18	76					A	20517106	G	A	20517106	3	1	301	1	0	0	0	0	1	0	0	0	16909	1377	48	3	54	3	UBXN10	1	20517106	Missense_Mutation	SNP	G	TCGA-KC-A7F6-01A-11D-A33T-08		20517106	228733515	1	14362											
COL8A2	1296	broad.mit.edu	37	chr1	36563588	36563588	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gggcagacagctcgcccagcCcaaactgtggcttgcccccc	7	5	11	18	1	0	1	0	0	0	1	1	1	0	1	5	2	4	3	5	2	1	1			TCGA-KC-A7F6-01A-11D-A33T-08	TCGA-KC-A7F6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2de10b8-8e9d-4cf0-bc63-b624df4eca9d	6b09169a-4356-4d2b-a82b-0ac0e7bceb74	g.chr1:36563588C>T	ENST00000397799.1	-	4	1918	c.1694G>A	c.(1693-1695)gGg>gAg	p.G565E	COL8A2_ENST00000303143.4_Missense_Mutation_p.G565E|COL8A2_ENST00000481785.1_Missense_Mutation_p.G500E			P25067	CO8A2_HUMAN	collagen, type VIII, alpha 2	565	Nonhelical region (NC1).				angiogenesis (GO:0001525)|camera-type eye morphogenesis (GO:0048593)|collagen catabolic process (GO:0030574)|epithelial cell proliferation (GO:0050673)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|single organismal cell-cell adhesion (GO:0016337)	basement membrane (GO:0005604)|collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|protein binding, bridging (GO:0030674)			NS(2)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				CTCGCCCAGCCCAAACTGTGG	0.677																																						ENST00000397799.1																			0				NS(2)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17						c.(1693-1695)gGg>gAg		collagen, type VIII, alpha 2							20	20	20					1																	36563588		2200	4295	6495	SO:0001583	missense	1296				angiogenesis|cell-cell adhesion|extracellular matrix organization	basement membrane|collagen	extracellular matrix structural constituent|protein binding, bridging	g.chr1:36563588C>T	M60832	CCDS403.1, CCDS72756.1	1p34.2-p32.3	2014-02-14			ENSG00000171812	ENSG00000171812		"Collagens"	2216	protein-coding gene	gene with protein product		120252		FECD		11689488	Standard	XM_005270477		Approved	PPCD, FECD1, PPCD2	uc001bzv.2	P25067	OTTHUMG00000007665	ENST00000397799.1:c.1694G>A	1.37:g.36563588C>T	ENSP00000380901:p.Gly565Glu					COL8A2_ENST00000481785.1_Missense_Mutation_p.G500E|COL8A2_ENST00000303143.4_Missense_Mutation_p.G565E	p.G565E			P25067	CO8A2_HUMAN			4	1918	-		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)	565			Nonhelical region (NC1).		Q5JV31|Q8TEJ5	Missense_Mutation	SNP	ENST00000397799.1	37	c.1694G>A	CCDS403.1	.	.	.	.	.	.	.	.	.	.	C	15.86	2.958546	0.53400	.	.	ENSG00000171812	ENST00000303143;ENST00000397799;ENST00000481785;ENST00000373172	D;D;D	0.91068	-2.78;-2.78;-2.77	4.2	4.2	0.49525	.	0.109282	0.64402	D	0.000005	D	0.87712	0.6246	M	0.64997	1.995	0.54753	D	0.999989	P	0.50943	0.94	B	0.42959	0.403	D	0.86509	0.1808	10	0.02654	T	1	.	17.0876	0.86615	0.0:1.0:0.0:0.0	.	565	P25067	CO8A2_HUMAN	E	565;565;500;289	ENSP00000305913:G565E;ENSP00000380901:G565E;ENSP00000436433:G500E	ENSP00000305913:G565E	G	-	2	0	COL8A2	36336175	0.958000	0.32768	1.000000	0.80357	0.807000	0.45602	3.100000	0.50275	2.335000	0.79485	0.462000	0.41574	GGG		0.677	COL8A2-003	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313674.1	NM_005202		7	15	0	0	0	1	0	7	15					T	36563588	C	T	36563588	3	4	301	1	0	0	0	0	1	0	0	0	3706	623	22	3	421	3	COL8A2	1	36563588	Missense_Mutation	SNP	C	TCGA-KC-A7F6-01A-11D-A33T-08	16046482	36563588	212687033	2	14363											
AGL	178	broad.mit.edu	37	chr1	100382037	100382037	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	caatcttgctaaaggtttcaAttatcaccaaggacctgtaa	14	12	6	9	0	3	0	2	0	1	0	3	1	3	1	2	2	1	3	2	2	7	5	rs143815159	byFrequency	TCGA-KC-A7F6-01A-11D-A33T-08	TCGA-KC-A7F6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2de10b8-8e9d-4cf0-bc63-b624df4eca9d	6b09169a-4356-4d2b-a82b-0ac0e7bceb74	g.chr1:100382037A>G	ENST00000294724.4	+	32	4809	c.4331A>G	c.(4330-4332)aAt>aGt	p.N1444S	AGL_ENST00000370165.3_Missense_Mutation_p.N1444S|AGL_ENST00000361915.3_Missense_Mutation_p.N1444S|AGL_ENST00000370163.3_Missense_Mutation_p.N1444S|AGL_ENST00000361302.3_Missense_Mutation_p.N1428S|AGL_ENST00000361522.4_Missense_Mutation_p.N1427S|AGL_ENST00000370161.2_Missense_Mutation_p.N1428S	NM_000028.2	NP_000019.2	P35573	GDE_HUMAN	amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase	1444					carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|glycogen catabolic process (GO:0005980)|response to glucocorticoid (GO:0051384)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|inclusion body (GO:0016234)|isoamylase complex (GO:0043033)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)	4-alpha-glucanotransferase activity (GO:0004134)|amylo-alpha-1,6-glucosidase activity (GO:0004135)|glycogen debranching enzyme activity (GO:0004133)|polysaccharide binding (GO:0030247)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(9)|lung(35)|ovary(1)|prostate(4)|skin(3)|urinary_tract(1)	69		all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131)		Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237)		AAAGGTTTCAATTATCACCAA	0.264													A|||	7	0.00139776	0.0015	0.0014	5008	,	,		16302	0.001		0	False		,,,				2504	0.0031					ENST00000294724.4																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(9)|lung(35)|ovary(1)|prostate(4)|skin(3)|urinary_tract(1)	69						c.(4330-4332)aAt>aGt		amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase		A	SER/ASN,SER/ASN,SER/ASN,SER/ASN,SER/ASN,SER/ASN	6,4400	11.4+/-27.6	0,6,2197	86	90	89		4331,4331,4331,4331,4280,4283	5.9	1	1	dbSNP_134	89	1,8597	1.2+/-3.3	0,1,4298	yes	missense,missense,missense,missense,missense,missense	AGL	NM_000028.2,NM_000642.2,NM_000643.2,NM_000644.2,NM_000645.2,NM_000646.2	46,46,46,46,46,46	0,7,6495	GG,GA,AA		0.0116,0.1362,0.0538	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	1444/1533,1444/1533,1444/1533,1444/1533,1427/1516,1428/1517	100382037	7,12997	2203	4299	6502	SO:0001583	missense	178				glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol|isoamylase complex|nucleus	4-alpha-glucanotransferase activity|amylo-alpha-1,6-glucosidase activity|cation binding	g.chr1:100382037A>G	BC078663	CCDS759.1, CCDS760.1, CCDS761.1	1p21	2010-04-27	2010-04-27		ENSG00000162688	ENSG00000162688	2.4.1.25, 3.2.1.33		321	protein-coding gene	gene with protein product	"glycogen debranching enzyme", "glycogen storage disease type III"	610860	"amylo-1, 6-glucosidase, 4-alpha-glucanotransferase"			1505983	Standard	NM_000028		Approved		uc001dsi.1	P35573	OTTHUMG00000010803	ENST00000294724.4:c.4331A>G	1.37:g.100382037A>G	ENSP00000294724:p.Asn1444Ser					AGL_ENST00000370165.3_Missense_Mutation_p.N1444S|AGL_ENST00000361302.3_Missense_Mutation_p.N1428S|AGL_ENST00000361522.4_Missense_Mutation_p.N1427S|AGL_ENST00000361915.3_Missense_Mutation_p.N1444S|AGL_ENST00000370163.3_Missense_Mutation_p.N1444S|AGL_ENST00000370161.2_Missense_Mutation_p.N1428S	p.N1444S	NM_000028.2	NP_000019.2	P35573	GDE_HUMAN		Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237)	32	4809	+		all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131)	1444					A6NCX7|A6NEK2|D3DT51|P78354|P78544|Q59H92|Q6AZ90|Q9UF08	Missense_Mutation	SNP	ENST00000294724.4	37	c.4331A>G	CCDS759.1	3	0.0013736263736263737	2	0.0040650406504065045	0	0.0	1	0.0017482517482517483	0	0.0	A	23.0	4.365554	0.82463	0.001362	1.16E-4	ENSG00000162688	ENST00000361915;ENST00000370165;ENST00000370163;ENST00000294724;ENST00000361302;ENST00000370161;ENST00000361522	T;T;T;T;T;T;T	0.67523	-0.27;-0.27;-0.27;-0.27;-0.27;-0.27;-0.27	5.89	5.89	0.94794	Six-hairpin glycosidase-like (1);	0.000000	0.85682	D	0.000000	T	0.78984	0.4370	M	0.77820	2.39	0.80722	D	1	D;D;D	0.71674	0.997;0.997;0.998	D;D;D	0.75484	0.976;0.976;0.986	T	0.82311	-0.0520	10	0.87932	D	0	.	16.3127	0.82898	1.0:0.0:0.0:0.0	.	1427;1428;1444	P35573-2;P35573-3;P35573	.;.;GDE_HUMAN	S	1444;1444;1444;1444;1428;1428;1427	ENSP00000355106:N1444S;ENSP00000359184:N1444S;ENSP00000359182:N1444S;ENSP00000294724:N1444S;ENSP00000354971:N1428S;ENSP00000359180:N1428S;ENSP00000354635:N1427S	ENSP00000294724:N1444S	N	+	2	0	AGL	100154625	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.962000	0.93254	2.246000	0.74042	0.533000	0.62120	AAT		0.264	AGL-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029778.1	NM_000028		7	30	0	0	0	1	0	7	30					G	100382037	A	G	100382037	3	3	301	1	0	0	0	0	1	0	0	0	384	101	4	4	4522	4	AGL	1	100382037	Missense_Mutation	SNP	A	TCGA-KC-A7F6-01A-11D-A33T-08	63818449	100382037	148868584	3	14364											
SEMA6C	10500	broad.mit.edu	37	chr1	151111116	151111116	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcttttgtaccccatagctgCggcacacagggctgaatgag	9	10	11	11	1	1	2	0	2	1	0	1	2	1	2	2	2	3	4	2	2	3	4			TCGA-KC-A7F6-01A-11D-A33T-08	TCGA-KC-A7F6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2de10b8-8e9d-4cf0-bc63-b624df4eca9d	6b09169a-4356-4d2b-a82b-0ac0e7bceb74	g.chr1:151111116C>T	ENST00000341697.3	-	7	2137	c.446G>A	c.(445-447)cGc>cAc	p.R149H				Q9H3T2	SEM6C_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6C	149	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	28	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			CCCATAGCTGCGGCACACAGG	0.547																																						ENST00000341697.3																			0				central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	28						c.(445-447)cGc>cAc		sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6C							81	75	77					1																	151111116		2203	4300	6503	SO:0001583	missense	10500					integral to membrane	receptor activity	g.chr1:151111116C>T	AF339154	CCDS984.1, CCDS53363.1, CCDS53364.1	1q21.2	2008-02-05			ENSG00000143434	ENSG00000143434		"Semaphorins"	10740	protein-coding gene	gene with protein product	"m-Sema Y2"	609294				12110693	Standard	NM_030913		Approved	KIAA1869	uc001ewv.3	Q9H3T2	OTTHUMG00000012261	ENST00000341697.3:c.446G>A	1.37:g.151111116C>T	ENSP00000344148:p.Arg149His						p.R149H			Q9H3T2	SEM6C_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)		7	2137	-	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		149			Sema.		D3DV15|Q5JR71|Q5JR72|Q5JR73|Q8WXT8|Q8WXT9|Q8WXU0|Q96JF8	Missense_Mutation	SNP	ENST00000341697.3	37	c.446G>A	CCDS984.1	.	.	.	.	.	.	.	.	.	.	C	32	5.132426	0.94473	.	.	ENSG00000143434	ENST00000368914;ENST00000368912;ENST00000368913;ENST00000341697;ENST00000392792	T;T;T;T	0.11277	2.79;2.79;2.79;2.79	5.06	5.06	0.68205	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.000000	0.85682	D	0.000000	T	0.34745	0.0908	M	0.91717	3.235	0.58432	D	0.999996	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.998;0.993;0.998;0.996	T	0.40136	-0.9579	10	0.87932	D	0	.	15.9776	0.80083	0.0:1.0:0.0:0.0	.	149;149;149;149	B4DZD4;Q9H3T2-2;Q9H3T2-3;Q9H3T2	.;.;.;SEM6C_HUMAN	H	149	ENSP00000357910:R149H;ENSP00000357908:R149H;ENSP00000357909:R149H;ENSP00000344148:R149H	ENSP00000344148:R149H	R	-	2	0	SEMA6C	149377740	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	5.504000	0.66968	2.642000	0.89623	0.561000	0.74099	CGC		0.547	SEMA6C-004	KNOWN	alternative_5_UTR|mRNA_start_NF|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000034074.1	NM_030913		4	40	0	0	0	1	0	4	40					T	151111116	C	T	151111116	3	4	301	1	0	0	0	0	1	0	0	0	14041	768	27	1	2498	1	SEMA6C	1	151111116	Missense_Mutation	SNP	C	TCGA-KC-A7F6-01A-11D-A33T-08	50729079	151111116	98139505	4	14365											
OR10J5	127385	broad.mit.edu	37	chr1	159505100	159505100	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aggtggcaaaggtcttcttcCggccctcagctgaggcaatt	8	10	12	11	1	3	1	1	1	2	0	4	1	4	1	2	5	1	3	2	5	2	3	rs141462119	byFrequency	TCGA-KC-A7F6-01A-11D-A33T-08	TCGA-KC-A7F6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2de10b8-8e9d-4cf0-bc63-b624df4eca9d	6b09169a-4356-4d2b-a82b-0ac0e7bceb74	g.chr1:159505100C>T	ENST00000334857.2	-	1	742	c.698G>A	c.(697-699)cGg>cAg	p.R233Q		NM_001004469.1	NP_001004469.1	Q8NHC4	O10J5_HUMAN	olfactory receptor, family 10, subfamily J, member 5	233			R -> W (in dbSNP:rs35393723).			integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	22	all_hematologic(112;0.0429)					GGTCTTCTTCCGGCCCTCAGC	0.483													C|||	10	0.00199681	0	0	5008	,	,		21259	0		0	False		,,,				2504	0.0102					ENST00000334857.2																			0				kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	22						c.(697-699)cGg>cAg		olfactory receptor, family 10, subfamily J, member 5		C	GLN/ARG	0,4406		0,0,2203	81	80	80		698	-1	0	1	dbSNP_134	80	1,8599	1.2+/-3.3	0,1,4299	no	missense	OR10J5	NM_001004469.1	43	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	233/310	159505100	1,13005	2203	4300	6503	SO:0001583	missense	127385				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:159505100C>T		CCDS30910.1	1q23.2	2012-08-09			ENSG00000184155	ENSG00000184155		"GPCR / Class A : Olfactory receptors"	14993	protein-coding gene	gene with protein product							Standard	NM_001004469		Approved		uc010piw.2	Q8NHC4	OTTHUMG00000022738	ENST00000334857.2:c.698G>A	1.37:g.159505100C>T	ENSP00000334441:p.Arg233Gln						p.R233Q	NM_001004469.1	NP_001004469.1	Q8NHC4	O10J5_HUMAN			1	742	-	all_hematologic(112;0.0429)		233		R -> W (in dbSNP:rs35393723).			B9EH35|Q6IFH2	Missense_Mutation	SNP	ENST00000334857.2	37	c.698G>A	CCDS30910.1	.	.	.	.	.	.	.	.	.	.	C	3.972	-0.008239	0.07727	0.0	1.16E-4	ENSG00000184155	ENST00000334857	T	0.00311	8.15	4.13	-0.979	0.10276	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00073	0.0002	L	0.53780	1.695	0.09310	N	1	B	0.29253	0.239	B	0.23419	0.046	T	0.06162	-1.0842	9	0.51188	T	0.08	.	7.1247	0.25465	0.0:0.428:0.0:0.572	.	233	Q8NHC4	O10J5_HUMAN	Q	233	ENSP00000334441:R233Q	ENSP00000334441:R233Q	R	-	2	0	OR10J5	157771724	0.000000	0.05858	0.028000	0.17463	0.031000	0.12232	-1.073000	0.03430	-0.093000	0.12396	-0.194000	0.12790	CGG		0.483	OR10J5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059021.1	NM_001004469		14	51	0	0	0	1	0	14	51					T	159505100	C	T	159505100	3	4	301	1	0	0	0	0	1	0	0	0	10912	652	23	2	233	2	OR10J5	1	159505100	Missense_Mutation	SNP	C	TCGA-KC-A7F6-01A-11D-A33T-08	8393984	159505100	89745521	5	14366											
DTX3L	151636	broad.mit.edu	37	chr3	122283293	122283293	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	catggcctcccacctgcgccCgccgtccccgctcctcgtgc	2	7	9	23	5	0	0	0	0	0	0	4	0	3	0	8	1	2	1	8	1	0	0			TCGA-KC-A7F6-01A-11D-A33T-08	TCGA-KC-A7F6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2de10b8-8e9d-4cf0-bc63-b624df4eca9d	6b09169a-4356-4d2b-a82b-0ac0e7bceb74	g.chr3:122283293C>T	ENST00000296161.4	+	1	209	c.20C>T	c.(19-21)cCg>cTg	p.P7L	DTX3L_ENST00000383661.3_Missense_Mutation_p.P7L|PARP9_ENST00000477522.2_5'UTR|PARP9_ENST00000360356.2_5'UTR|PARP9_ENST00000462315.1_5'Flank|PARP9_ENST00000492382.1_5'Flank|PARP9_ENST00000471785.1_5'Flank	NM_138287.3	NP_612144.1	Q8TDB6	DTX3L_HUMAN	deltex 3 like, E3 ubiquitin ligase	7					cellular response to DNA damage stimulus (GO:0006974)|double-strand break repair (GO:0006302)|histone monoubiquitination (GO:0010390)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	histone binding (GO:0042393)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	24				GBM - Glioblastoma multiforme(114;0.0459)		CACCTGCGCCCGCCGTCCCCG	0.736																																						ENST00000296161.4																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	24						c.(19-21)cCg>cTg		deltex 3-like (Drosophila)							17	22	20					3																	122283293		2199	4293	6492	SO:0001583	missense	151636				histone monoubiquitination|response to DNA damage stimulus	cytoplasm|nucleus	histone binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr3:122283293C>T		CCDS3015.1	3q21.1	2014-01-28	2014-01-28		ENSG00000163840	ENSG00000163840		"RING-type (C3HC4) zinc fingers"	30323	protein-coding gene	gene with protein product	"rhysin 2"	613143	"deltex 3-like (Drosophila)"			12670957, 22411408	Standard	NM_138287		Approved	BBAP	uc003efk.3	Q8TDB6	OTTHUMG00000159524	ENST00000296161.4:c.20C>T	3.37:g.122283293C>T	ENSP00000296161:p.Pro7Leu					DTX3L_ENST00000383661.3_Missense_Mutation_p.P7L|PARP9_ENST00000360356.2_5'UTR|PARP9_ENST00000477522.2_5'UTR	p.P7L	NM_138287.3	NP_612144.1	Q8TDB6	DTX3L_HUMAN		GBM - Glioblastoma multiforme(114;0.0459)	1	209	+			7					B3KWH6|Q53ZZ3|Q5MJP7	Missense_Mutation	SNP	ENST00000296161.4	37	c.20C>T	CCDS3015.1	.	.	.	.	.	.	.	.	.	.	C	19.52	3.842695	0.71488	.	.	ENSG00000163840	ENST00000296161;ENST00000383661	T;T	0.60797	0.44;0.16	4.7	4.7	0.59300	.	0.000000	0.44902	D	0.000406	T	0.73505	0.3595	M	0.69823	2.125	0.43080	D	0.994738	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.77016	-0.2744	10	0.87932	D	0	-14.3404	12.9988	0.58664	0.0:1.0:0.0:0.0	.	7;7	Q8TDB6-2;Q8TDB6	.;DTX3L_HUMAN	L	7	ENSP00000296161:P7L;ENSP00000373157:P7L	ENSP00000296161:P7L	P	+	2	0	DTX3L	123765983	0.024000	0.19004	0.994000	0.49952	0.273000	0.26683	1.209000	0.32357	2.400000	0.81607	0.655000	0.94253	CCG		0.736	DTX3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355966.1	NM_138287		5	20	0	0	0	1	0	5	20					T	122283293	C	T	122283293	3	4	301	1	0	0	0	0	1	0	0	0	4796	652	23	2	22	2	DTX3L	3	122283293	Missense_Mutation	SNP	C	TCGA-KC-A7F6-01A-11D-A33T-08		122283293	75739137	6	14367											
ACSL1	2180	broad.mit.edu	37	chr4	185681525	185681525	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acatacctgcaggctttctcCgtggacaaacacctgagcaa	12	8	8	13	1	1	1	0	1	1	0	2	2	1	2	3	2	4	3	3	2	3	2			TCGA-KC-A7F6-01A-11D-A33T-08	TCGA-KC-A7F6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2de10b8-8e9d-4cf0-bc63-b624df4eca9d	6b09169a-4356-4d2b-a82b-0ac0e7bceb74	g.chr4:185681525C>T	ENST00000515030.1	-	18	2093	c.1768G>A	c.(1768-1770)Gga>Aga	p.G590R	ACSL1_ENST00000507295.1_Missense_Mutation_p.G556R|ACSL1_ENST00000281455.2_Missense_Mutation_p.G590R|ACSL1_ENST00000513317.1_Missense_Mutation_p.G590R|ACSL1_ENST00000454703.2_Missense_Mutation_p.G419R|ACSL1_ENST00000437665.3_Missense_Mutation_p.G419R|ACSL1_ENST00000504342.1_Missense_Mutation_p.G590R			P33121	ACSL1_HUMAN	acyl-CoA synthetase long-chain family member 1	590					adiponectin-activated signaling pathway (GO:0033211)|alpha-linolenic acid metabolic process (GO:0036109)|cellular lipid metabolic process (GO:0044255)|linoleic acid metabolic process (GO:0043651)|lipid biosynthetic process (GO:0008610)|long-chain fatty acid import (GO:0044539)|long-chain fatty acid metabolic process (GO:0001676)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|response to drug (GO:0042493)|response to nutrient (GO:0007584)|response to oleic acid (GO:0034201)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|unsaturated fatty acid metabolic process (GO:0033559)|xenobiotic catabolic process (GO:0042178)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|peroxisomal membrane (GO:0005778)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|long-chain fatty acid-CoA ligase activity (GO:0004467)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|liver(1)|lung(17)|ovary(2)|prostate(1)|skin(2)	38		all_lung(41;7.57e-14)|Lung NSC(41;1.81e-13)|Colorectal(36;0.00172)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0315)|all_neural(102;0.107)|Medulloblastoma(177;0.146)		all cancers(43;1.33e-28)|Epithelial(43;5.3e-25)|OV - Ovarian serous cystadenocarcinoma(60;4.88e-11)|Colorectal(24;3.59e-06)|STAD - Stomach adenocarcinoma(60;2.72e-05)|GBM - Glioblastoma multiforme(59;2.83e-05)|BRCA - Breast invasive adenocarcinoma(30;7.66e-05)|COAD - Colon adenocarcinoma(29;0.000538)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.0419)	Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	AGGCTTTCTCCGTGGACAAAC	0.443																																						ENST00000515030.1																			0				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|liver(1)|lung(17)|ovary(2)|prostate(1)|skin(2)	38						c.(1768-1770)Gga>Aga		acyl-CoA synthetase long-chain family member 1	Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)						221	233	229					4																	185681525		2203	4300	6503	SO:0001583	missense	2180				digestion|fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|regulation of fatty acid oxidation|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane	ATP binding|long-chain fatty acid-CoA ligase activity	g.chr4:185681525C>T	BC026290	CCDS3839.1, CCDS68825.1, CCDS68826.1, CCDS75213.1	4q35.1	2014-08-08	2004-02-19	2004-02-20	ENSG00000151726	ENSG00000151726	6.2.1.3	"Acyl-CoA synthetase family"	3569	protein-coding gene	gene with protein product	"lignoceroyl-CoA synthase", "long-chain fatty-acid-coenzyme A ligase 1"	152425	"fatty-acid-Coenzyme A ligase, long-chain 2"	FACL2		2341402, 1531127	Standard	XM_005262828		Approved	LACS2, LACS, ACS1, LACS1, FACL1	uc003iwu.1	P33121	OTTHUMG00000160547	ENST00000515030.1:c.1768G>A	4.37:g.185681525C>T	ENSP00000422607:p.Gly590Arg					ACSL1_ENST00000504342.1_Missense_Mutation_p.G590R|ACSL1_ENST00000437665.3_Missense_Mutation_p.G419R|ACSL1_ENST00000281455.2_Missense_Mutation_p.G590R|ACSL1_ENST00000507295.1_Missense_Mutation_p.G556R|ACSL1_ENST00000513317.1_Missense_Mutation_p.G590R|ACSL1_ENST00000454703.2_Missense_Mutation_p.G419R	p.G590R			P33121	ACSL1_HUMAN		all cancers(43;1.33e-28)|Epithelial(43;5.3e-25)|OV - Ovarian serous cystadenocarcinoma(60;4.88e-11)|Colorectal(24;3.59e-06)|STAD - Stomach adenocarcinoma(60;2.72e-05)|GBM - Glioblastoma multiforme(59;2.83e-05)|BRCA - Breast invasive adenocarcinoma(30;7.66e-05)|COAD - Colon adenocarcinoma(29;0.000538)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.0419)	18	2093	-		all_lung(41;7.57e-14)|Lung NSC(41;1.81e-13)|Colorectal(36;0.00172)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0315)|all_neural(102;0.107)|Medulloblastoma(177;0.146)	590					B7Z452|D3DP57|P41215|Q8N8V7|Q8TA99	Missense_Mutation	SNP	ENST00000515030.1	37	c.1768G>A	CCDS3839.1	.	.	.	.	.	.	.	.	.	.	C	30	5.053106	0.93793	.	.	ENSG00000151726	ENST00000454703;ENST00000515030;ENST00000503407;ENST00000281455;ENST00000507295;ENST00000437665;ENST00000504342;ENST00000513317	T;T;T;T;T;T;T;T	0.39787	1.06;1.06;1.06;1.06;1.06;1.06;1.06;1.06	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	T	0.81044	0.4741	H	0.99336	4.52	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.994;1.0;1.0;1.0	D	0.89160	0.3529	10	0.87932	D	0	-22.1141	19.5066	0.95118	0.0:1.0:0.0:0.0	.	556;590;590;580	E7EPM6;B7Z452;P33121;P33121-2	.;.;ACSL1_HUMAN;.	R	419;590;186;590;556;419;590;590	ENSP00000407165:G419R;ENSP00000422607:G590R;ENSP00000425098:G186R;ENSP00000281455:G590R;ENSP00000426244:G556R;ENSP00000405687:G419R;ENSP00000425006:G590R;ENSP00000426150:G590R	ENSP00000281455:G590R	G	-	1	0	ACSL1	185918519	1.000000	0.71417	0.997000	0.53966	0.993000	0.82548	7.654000	0.83653	2.612000	0.88384	0.655000	0.94253	GGA		0.443	ACSL1-011	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361112.2	NM_001995		7	228	0	0	0	1	0	7	228					T	185681525	C	T	185681525	3	4	301	1	0	0	0	0	1	0	0	0	177	661	23	2	344	2	ACSL1	4	185681525	Missense_Mutation	SNP	C	TCGA-KC-A7F6-01A-11D-A33T-08		185681525	5472751	7	14368											
PRLR	5618	broad.mit.edu	37	chr5	35084650	35084650	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggcattgaccatcatgatgtAtgtcctccacatggaggtgt	9	12	11	9	0	1	2	1	2	0	0	3	3	3	3	3	3	0	2	3	3	1	2			TCGA-KC-A7F6-01A-11D-A33T-08	TCGA-KC-A7F6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2de10b8-8e9d-4cf0-bc63-b624df4eca9d	6b09169a-4356-4d2b-a82b-0ac0e7bceb74	g.chr5:35084650A>T	ENST00000382002.5	-	5	721	c.295T>A	c.(295-297)Tac>Aac	p.Y99N	PRLR_ENST00000310101.5_Missense_Mutation_p.Y99N|PRLR_ENST00000511486.1_Intron|PRLR_ENST00000542609.1_Missense_Mutation_p.Y99N|PRLR_ENST00000513753.1_Missense_Mutation_p.Y99N|PRLR_ENST00000397391.3_Missense_Mutation_p.Y28N|PRLR_ENST00000509934.1_5'UTR|PRLR_ENST00000342362.5_Intron|PRLR_ENST00000231423.3_Missense_Mutation_p.Y99N|PRLR_ENST00000348262.3_Missense_Mutation_p.Y99N	NM_000949.5	NP_000940.1	P16471	PRLR_HUMAN	prolactin receptor	99	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				activation of JAK2 kinase activity (GO:0042977)|activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|cell surface receptor signaling pathway (GO:0007166)|embryo implantation (GO:0007566)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lactation (GO:0007595)|negative regulation of apoptotic process (GO:0043066)|prolactin signaling pathway (GO:0038161)|steroid biosynthetic process (GO:0006694)|T cell activation (GO:0042110)	cell surface (GO:0009986)|endosome lumen (GO:0031904)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|ornithine decarboxylase activator activity (GO:0042978)|peptide hormone binding (GO:0017046)|prolactin receptor activity (GO:0004925)|protein homodimerization activity (GO:0042803)			central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48	all_lung(31;3.83e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)		Fluoxymesterone(DB01185)|Somatropin recombinant(DB00052)	ATCATGATGTATGTCCTCCAC	0.483																																						ENST00000382002.5																			0				central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48						c.(295-297)Tac>Aac		prolactin receptor	Dromostanolone(DB00858)|Fluoxymesterone(DB01185)|Pegvisomant(DB00082)|Somatropin recombinant(DB00052)						231	216	221					5																	35084650		2203	4300	6503	SO:0001583	missense	5618				activation of JAK2 kinase activity|activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|embryo implantation|lactation|steroid biosynthetic process|T cell activation	cell surface|extracellular region|integral to membrane	metal ion binding|ornithine decarboxylase activator activity|peptide hormone binding|prolactin receptor activity|protein homodimerization activity	g.chr5:35084650A>T		CCDS3909.1, CCDS56358.1, CCDS56359.1, CCDS56360.1, CCDS56361.1, CCDS56362.1	5p14-p13	2013-02-27			ENSG00000113494	ENSG00000113494			9446	protein-coding gene	gene with protein product		176761					Standard	NM_001204315		Approved		uc003jjm.3	P16471	OTTHUMG00000090789	ENST00000382002.5:c.295T>A	5.37:g.35084650A>T	ENSP00000371432:p.Tyr99Asn					PRLR_ENST00000231423.3_Missense_Mutation_p.Y99N|PRLR_ENST00000342362.5_Intron|PRLR_ENST00000542609.1_Missense_Mutation_p.Y99N|PRLR_ENST00000513753.1_Missense_Mutation_p.Y99N|PRLR_ENST00000511486.1_Intron|PRLR_ENST00000509934.1_5'UTR|PRLR_ENST00000397391.3_Missense_Mutation_p.Y28N|PRLR_ENST00000348262.3_Missense_Mutation_p.Y99N|PRLR_ENST00000310101.5_Missense_Mutation_p.Y99N	p.Y99N	NM_000949.5	NP_000940.1	P16471	PRLR_HUMAN	COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)		5	721	-	all_lung(31;3.83e-05)		99			Fibronectin type-III 1.		B2R882|D1MDP1|Q16354|Q8TD75|Q8TD78|Q96P35|Q96P36|Q9BX87|Q9UHJ5	Missense_Mutation	SNP	ENST00000382002.5	37	c.295T>A	CCDS3909.1	.	.	.	.	.	.	.	.	.	.	A	16.79	3.219927	0.58560	.	.	ENSG00000113494	ENST00000231423;ENST00000513753;ENST00000348262;ENST00000397391;ENST00000542609;ENST00000382002;ENST00000310101;ENST00000514206;ENST00000509839;ENST00000503330	T;T;T;D;T;T;T;T;T;T	0.97772	-0.08;-0.08;-0.08;-4.53;-0.08;-0.08;-0.08;-0.08;-0.08;-0.08	5.78	5.78	0.91487	Fibronectin, type III (3);Growth hormone/erythropoietin receptor, ligand binding (1);Immunoglobulin-like fold (1);	0.052982	0.85682	D	0.000000	D	0.98887	0.9623	M	0.90082	3.085	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	0.999;1.0;1.0;0.999;1.0;0.999	D	0.99755	1.1019	10	0.87932	D	0	-18.4552	15.0964	0.72238	1.0:0.0:0.0:0.0	.	99;99;28;99;99;99	P16471-3;P16471;Q8TD76;P16471-7;P16471-6;P16471-4	.;PRLR_HUMAN;.;.;.;.	N	99;99;99;28;99;99;99;99;99;99	ENSP00000231423:Y99N;ENSP00000424841:Y99N;ENSP00000311613:Y99N;ENSP00000380546:Y28N;ENSP00000441813:Y99N;ENSP00000371432:Y99N;ENSP00000309008:Y99N;ENSP00000423493:Y99N;ENSP00000427060:Y99N;ENSP00000422385:Y99N	ENSP00000231423:Y99N	Y	-	1	0	PRLR	35120407	1.000000	0.71417	0.574000	0.28523	0.025000	0.11179	8.030000	0.88816	2.220000	0.72140	0.533000	0.62120	TAC		0.483	PRLR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207575.2			4	128	0	0	0	1	0	4	128					T	35084650	A	T	35084650	3	4	301	1	0	0	0	0	1	0	0	0	12531	449	16	5	1597	5	PRLR	5	35084650	Missense_Mutation	SNP	A	TCGA-KC-A7F6-01A-11D-A33T-08		35084650	145830610	8	14369											
CCNH	902	broad.mit.edu	37	chr5	86707138	86707138	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcatttcttcatgaggctcaAgaaagactggatcattcgga	12	12	9	8	1	5	3	4	1	1	2	6	5	5	5	0	3	0	1	0	3	2	3			TCGA-KC-A7F6-01A-11D-A33T-08	TCGA-KC-A7F6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2de10b8-8e9d-4cf0-bc63-b624df4eca9d	6b09169a-4356-4d2b-a82b-0ac0e7bceb74	g.chr5:86707138A>G	ENST00000256897.4	-	2	367	c.143T>C	c.(142-144)cTt>cCt	p.L48P	CCNH_ENST00000504878.1_5'UTR|CCNH_ENST00000508855.1_5'Flank|CCNH_ENST00000513499.1_5'UTR	NM_001239.3	NP_001230.1	P51946	CCNH_HUMAN	cyclin H	48					7-methylguanosine mRNA capping (GO:0006370)|ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of viral transcription (GO:0050434)|protein phosphorylation (GO:0006468)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032)	cyclin-dependent protein kinase activating kinase holoenzyme complex (GO:0019907)|holo TFIIH complex (GO:0005675)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|TFIIK complex (GO:0070985)	cyclin-dependent protein serine/threonine kinase regulator activity (GO:0016538)|kinase activity (GO:0016301)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|liver(1)|lung(2)|ovary(2)	15		all_cancers(142;8.25e-07)|Lung NSC(167;0.000185)|all_lung(232;0.000222)|Colorectal(57;0.00542)|Ovarian(174;0.0423)		OV - Ovarian serous cystadenocarcinoma(54;9.01e-39)|Epithelial(54;5.08e-33)|all cancers(79;4.28e-28)		ATGAGGCTCAAGAAAGACTGG	0.343								Direct reversal of damage;Direct reversal of damage;Nucleotide excision repair (NER)																														ENST00000256897.4																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|liver(1)|lung(2)|ovary(2)	15						c.(142-144)cTt>cCt	Direct reversal of damage;Direct reversal of damage;Nucleotide excision repair (NER)	cyclin H							110	104	106					5																	86707138		2203	4300	6503	SO:0001583	missense	902				G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|mRNA capping|nucleotide-excision repair, DNA damage removal|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein phosphorylation|regulation of cyclin-dependent protein kinase activity|S phase of mitotic cell cycle|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	cyclin-dependent protein kinase activating kinase holoenzyme complex|holo TFIIH complex	protein kinase binding	g.chr5:86707138A>G	U12685	CCDS4064.1	5q13.3-q14	2014-03-28			ENSG00000134480	ENSG00000134480		"General transcription factor IIH complex subunits"	1594	protein-coding gene	gene with protein product	"CDK-activating kinase complex subunit", "cyclin-dependent kinase-activating kinase complex subunit", "MO15-associated protein", "CAK complex subunit"	601953				9465303	Standard	NM_001239		Approved	p34, p37, CycH	uc003kjb.3	P51946	OTTHUMG00000119077	ENST00000256897.4:c.143T>C	5.37:g.86707138A>G	ENSP00000256897:p.Leu48Pro					CCNH_ENST00000504878.1_5'UTR|CCNH_ENST00000513499.1_5'UTR	p.L48P	NM_001239.3	NP_001230.1	P51946	CCNH_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;9.01e-39)|Epithelial(54;5.08e-33)|all cancers(79;4.28e-28)	2	367	-		all_cancers(142;8.25e-07)|Lung NSC(167;0.000185)|all_lung(232;0.000222)|Colorectal(57;0.00542)|Ovarian(174;0.0423)	48					Q53X72|Q8TBL9	Missense_Mutation	SNP	ENST00000256897.4	37	c.143T>C	CCDS4064.1	.	.	.	.	.	.	.	.	.	.	A	27.4	4.824198	0.90955	.	.	ENSG00000134480	ENST00000256897	T	0.20200	2.09	6.17	6.17	0.99709	Cyclin-like (2);	0.000000	0.85682	D	0.000000	T	0.52403	0.1732	M	0.85630	2.765	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	T	0.56456	-0.7976	9	.	.	.	-16.8401	16.8222	0.85835	1.0:0.0:0.0:0.0	.	48	P51946	CCNH_HUMAN	P	48	ENSP00000256897:L48P	.	L	-	2	0	CCNH	86742894	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.130000	0.89598	2.371000	0.80710	0.533000	0.62120	CTT		0.343	CCNH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239291.3	NM_001239		6	45	0	0	0	1	0	6	45					G	86707138	A	G	86707138	3	3	301	1	0	0	0	0	1	0	0	0	2925	72	3	4	860	4	CCNH	5	86707138	Missense_Mutation	SNP	A	TCGA-KC-A7F6-01A-11D-A33T-08	51622488	86707138	94208122	9	14370											
HSD17B4	3295	broad.mit.edu	37	chr5	118867003	118867003	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgtatttgaggaaataggaCgccgcctaaaggatattggg	12	11	13	5	2	0	1	0	1	0	0	0	4	0	4	2	4	0	1	2	4	6	7			TCGA-KC-A7F6-01A-11D-A33T-08	TCGA-KC-A7F6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2de10b8-8e9d-4cf0-bc63-b624df4eca9d	6b09169a-4356-4d2b-a82b-0ac0e7bceb74	g.chr5:118867003C>T	ENST00000256216.6	+	22	2030	c.1897C>T	c.(1897-1899)Cgc>Tgc	p.R633C	HSD17B4_ENST00000509514.1_Missense_Mutation_p.R371C|HSD17B4_ENST00000510025.1_Missense_Mutation_p.R609C|HSD17B4_ENST00000515320.1_Missense_Mutation_p.R615C|HSD17B4_ENST00000504811.1_Missense_Mutation_p.R658C|HSD17B4_ENST00000522415.1_3'UTR|HSD17B4_ENST00000414835.2_Missense_Mutation_p.R493C|HSD17B4_ENST00000513628.1_Missense_Mutation_p.R496C	NM_000414.3	NP_000405.1	P51659	DHB4_HUMAN	hydroxysteroid (17-beta) dehydrogenase 4	633	SCP2.				alpha-linolenic acid metabolic process (GO:0036109)|androgen metabolic process (GO:0008209)|bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cellular lipid metabolic process (GO:0044255)|estrogen metabolic process (GO:0008210)|fatty acid beta-oxidation (GO:0006635)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|medium-chain fatty-acyl-CoA metabolic process (GO:0036112)|metabolic process (GO:0008152)|osteoblast differentiation (GO:0001649)|oxidation-reduction process (GO:0055114)|Sertoli cell development (GO:0060009)|small molecule metabolic process (GO:0044281)|unsaturated fatty acid metabolic process (GO:0033559)|very long-chain fatty acid metabolic process (GO:0000038)|very long-chain fatty-acyl-CoA metabolic process (GO:0036111)	intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	17-beta-hydroxysteroid dehydrogenase (NAD+) activity (GO:0044594)|3-hydroxyacyl-CoA dehydrogenase activity (GO:0003857)|3alpha,7alpha,12alpha-trihydroxy-5beta-cholest-24-enoyl-CoA hydratase activity (GO:0033989)|isomerase activity (GO:0016853)|long-chain-enoyl-CoA hydratase activity (GO:0016508)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)			breast(2)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(2)	25		all_cancers(142;0.0206)|Prostate(80;0.0322)		OV - Ovarian serous cystadenocarcinoma(64;0.000247)|Epithelial(69;0.000849)|all cancers(49;0.0122)		GGAAATAGGACGCCGCCTAAA	0.398																																					Colon(35;490 801 34689 41394 43344)	ENST00000504811.1																			0				breast(2)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(2)	25						c.(1972-1974)Cgc>Tgc		hydroxysteroid (17-beta) dehydrogenase 4	NADH(DB00157)						93	93	93					5																	118867003		2202	4300	6502	SO:0001583	missense	3295				bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase	peroxisomal matrix	3-hydroxyacyl-CoA dehydrogenase activity|3alpha,7alpha,12alpha-trihydroxy-5beta-cholest-24-enoyl-CoA hydratase activity|estradiol 17-beta-dehydrogenase activity|isomerase activity|long-chain-enoyl-CoA hydratase activity|protein binding|sterol binding|sterol transporter activity	g.chr5:118867003C>T		CCDS4126.1, CCDS56378.1, CCDS56379.1	5q2	2011-09-20			ENSG00000133835	ENSG00000133835	4.2.1.107, 1.1.1.35	"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3"	5213	protein-coding gene	gene with protein product	"17beta-estradiol dehydrogenase type IV", "peroxisomal multifunctional protein 2", "17-beta-HSD IV", "17-beta-hydroxysteroid dehydrogenase 4", "D-bifunctional protein, peroxisomal", "D-3-hydroxyacyl-CoA dehydratase", "3-alpha,7-alpha,12-alpha-trihydroxy-5-beta-cholest-24-enoyl-CoA hydratase", "beta-keto-reductase", "beta-hydroxyacyl dehydrogenase", "short chain dehydrogenase/reductase family 8C, member 1"	601860				8938456, 19027726	Standard	NM_000414		Approved	MFE-2, DBP, SDR8C1	uc003ksj.3	P51659	OTTHUMG00000128899	ENST00000256216.6:c.1897C>T	5.37:g.118867003C>T	ENSP00000256216:p.Arg633Cys					HSD17B4_ENST00000513628.1_Missense_Mutation_p.R496C|HSD17B4_ENST00000510025.1_Missense_Mutation_p.R609C|HSD17B4_ENST00000509514.1_Missense_Mutation_p.R371C|HSD17B4_ENST00000515320.1_Missense_Mutation_p.R615C|HSD17B4_ENST00000414835.2_Missense_Mutation_p.R493C|HSD17B4_ENST00000256216.6_Missense_Mutation_p.R633C|HSD17B4_ENST00000522415.1_3'UTR	p.R658C	NM_001199291.1	NP_001186220.1	P51659	DHB4_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;0.000247)|Epithelial(69;0.000849)|all cancers(49;0.0122)	23	2156	+		all_cancers(142;0.0206)|Prostate(80;0.0322)	633			SCP2.		B4DNV1|B4DVS5|E9PB82|F5HE57	Missense_Mutation	SNP	ENST00000256216.6	37	c.1972C>T	CCDS4126.1	.	.	.	.	.	.	.	.	.	.	C	20.5	3.992821	0.74703	.	.	ENSG00000133835	ENST00000256216;ENST00000515320;ENST00000510025;ENST00000504811;ENST00000414835;ENST00000513628;ENST00000509514	T;T;T;T;T;T;T	0.23950	1.88;1.88;1.88;1.88;1.88;1.88;1.88	5.49	4.62	0.57501	SCP2 sterol-binding domain (2);	0.097511	0.85682	D	0.000000	T	0.55321	0.1913	M	0.90252	3.1	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.999;0.999;0.999;0.999	P;D;D;P;P	0.65874	0.899;0.939;0.91;0.885;0.892	T	0.63866	-0.6540	10	0.62326	D	0.03	-2.1257	13.6856	0.62513	0.0:0.9223:0.0:0.0776	.	658;615;609;371;633	F5HE57;E9PB82;E7EWE5;E7EPL9;P51659	.;.;.;.;DHB4_HUMAN	C	633;615;609;658;493;496;371	ENSP00000256216:R633C;ENSP00000424613:R615C;ENSP00000424940:R609C;ENSP00000420914:R658C;ENSP00000411960:R493C;ENSP00000425993:R496C;ENSP00000426272:R371C	ENSP00000256216:R633C	R	+	1	0	HSD17B4	118894902	0.979000	0.34478	0.998000	0.56505	0.839000	0.47603	3.049000	0.49869	2.582000	0.87167	0.650000	0.86243	CGC		0.398	HSD17B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250863.3	NM_000414		18	41	0	0	0	1	0	18	41					T	118867003	C	T	118867003	3	4	301	1	0	0	0	0	1	0	0	0	7386	536	19	1	1983	1	HSD17B4	5	118867003	Missense_Mutation	SNP	C	TCGA-KC-A7F6-01A-11D-A33T-08	32159865	118867003	62048257	10	14371											
CEP120	153241	broad.mit.edu	37	chr5	122718571	122718571	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agaagacggcttttgctgtaCggcagatacaccctaagaga	13	8	11	9	2	0	4	0	0	0	4	0	5	0	4	1	2	3	4	1	2	4	5	rs372774629		TCGA-KC-A7F6-01A-11D-A33T-08	TCGA-KC-A7F6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2de10b8-8e9d-4cf0-bc63-b624df4eca9d	6b09169a-4356-4d2b-a82b-0ac0e7bceb74	g.chr5:122718571C>G	ENST00000306467.5	-	13	2177	c.1873G>C	c.(1873-1875)Gta>Cta	p.V625L	CEP120_ENST00000328236.5_Missense_Mutation_p.V625L|CEP120_ENST00000306481.6_Missense_Mutation_p.V599L			Q8N960	CE120_HUMAN	centrosomal protein 120kDa	625					astral microtubule organization (GO:0030953)|cerebral cortex development (GO:0021987)|interkinetic nuclear migration (GO:0022027)|neurogenesis (GO:0022008)|regulation of microtubule-based process (GO:0032886)|regulation of protein localization (GO:0032880)	centrosome (GO:0005813)|cytoplasm (GO:0005737)				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	29						TTTTGCTGTACGGCAGATACA	0.393																																						ENST00000306467.5																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	29						c.(1873-1875)Gta>Cta		centrosomal protein 120kDa							100	96	97					5																	122718571		2203	4300	6503	SO:0001583	missense	153241					centrosome		g.chr5:122718571C>G	AK095646	CCDS4134.2, CCDS54890.1	5q23.2	2014-02-20	2008-08-14	2008-08-14	ENSG00000168944	ENSG00000168944			26690	protein-coding gene	gene with protein product		613446	"coiled-coil domain containing 100"	CCDC100		17920017	Standard	NM_153223		Approved	FLJ36090	uc003ktk.3	Q8N960	OTTHUMG00000128922	ENST00000306467.5:c.1873G>C	5.37:g.122718571C>G	ENSP00000303058:p.Val625Leu					CEP120_ENST00000328236.5_Missense_Mutation_p.V625L|CEP120_ENST00000306481.6_Missense_Mutation_p.V599L	p.V625L			Q8N960	CE120_HUMAN			13	2177	-			625					Q6AI52|Q6AW89|Q8IWB5|Q8N9Y0|Q8NDE8	Missense_Mutation	SNP	ENST00000306467.5	37	c.1873G>C	CCDS4134.2	.	.	.	.	.	.	.	.	.	.	C	3.718	-0.058153	0.07317	.	.	ENSG00000168944	ENST00000306467;ENST00000328236;ENST00000306481;ENST00000508442	T;T;T;T	0.42513	0.97;0.97;0.97;0.97	5.81	-2.47	0.06442	.	1.668340	0.02836	N	0.127280	T	0.26376	0.0644	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.19549	-1.0302	10	0.26408	T	0.33	0.039	9.4631	0.38796	0.0:0.5603:0.1901:0.2496	.	625	Q8N960	CE120_HUMAN	L	625;625;599;599	ENSP00000303058:V625L;ENSP00000327504:V625L;ENSP00000307419:V599L;ENSP00000421620:V599L	ENSP00000303058:V625L	V	-	1	0	CEP120	122746470	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-0.152000	0.10159	-0.128000	0.11641	-0.911000	0.02809	GTA		0.393	CEP120-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250899.2	NM_153223		18	27	0	0	0	1	0	18	27					G	122718571	C	G	122718571	3	3	301	1	0	0	0	0	1	0	0	0	3246	536	19	5	1119	5	CEP120	5	122718571	Missense_Mutation	SNP	C	TCGA-KC-A7F6-01A-11D-A33T-08	3851568	122718571	58196689	11	14372											
ADAMTS2	9509	broad.mit.edu	37	chr5	178585819	178585819	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ctggcttctgctggaggtagGcccagcggcagacattctcc	6	9	13	13	1	2	1	0	0	2	1	3	2	2	2	2	5	2	4	2	5	1	3			TCGA-KC-A7F6-01A-11D-A33T-08	TCGA-KC-A7F6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2de10b8-8e9d-4cf0-bc63-b624df4eca9d	6b09169a-4356-4d2b-a82b-0ac0e7bceb74	g.chr5:178585819G>A	ENST00000251582.7	-	6	1138	c.1037C>T	c.(1036-1038)gCc>gTc	p.A346V	ADAMTS2_ENST00000274609.5_Missense_Mutation_p.A346V	NM_014244.4	NP_055059.2	O95450	ATS2_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 2	346	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|lung development (GO:0030324)|protein processing (GO:0016485)|skin development (GO:0043588)|spermatogenesis (GO:0007283)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)		CTGGAGGTAGGCCCAGCGGCA	0.592																																						ENST00000251582.7																			0				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72						c.(1036-1038)gCc>gTc		ADAM metallopeptidase with thrombospondin type 1 motif, 2							118	104	109					5																	178585819		2203	4300	6503	SO:0001583	missense	9509				collagen catabolic process	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:178585819G>A	AJ003125	CCDS4444.1, CCDS34311.1	5q23-q24	2008-07-18	2005-08-19		ENSG00000087116	ENSG00000087116		"ADAM metallopeptidases with thrombospondin type 1 motif"	218	protein-coding gene	gene with protein product	"procollagen I N-proteinase", "procollagen N-endopeptidase"	604539	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 2"			10094461, 15373769	Standard	NM_014244		Approved	ADAMTS-3, hPCPNI, PCINP, ADAM-TS2, NPI	uc003mjw.3	O95450	OTTHUMG00000130915	ENST00000251582.7:c.1037C>T	5.37:g.178585819G>A	ENSP00000251582:p.Ala346Val					ADAMTS2_ENST00000274609.5_Missense_Mutation_p.A346V	p.A346V	NM_014244.4	NP_055059.2	O95450	ATS2_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)	6	1138	-	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	346			Peptidase M12B.			Missense_Mutation	SNP	ENST00000251582.7	37	c.1037C>T	CCDS4444.1	.	.	.	.	.	.	.	.	.	.	G	36	5.669250	0.96754	.	.	ENSG00000087116	ENST00000251582;ENST00000274609	D;D	0.86769	-2.17;-2.17	5.79	5.79	0.91817	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.000000	0.56097	D	0.000031	D	0.92280	0.7551	L	0.53249	1.67	0.80722	D	1	D;D	0.89917	0.998;1.0	D;D	0.91635	0.994;0.999	D	0.92102	0.5689	10	0.59425	D	0.04	.	19.0316	0.92959	0.0:0.0:1.0:0.0	.	346;346	O95450-2;O95450	.;ATS2_HUMAN	V	346	ENSP00000251582:A346V;ENSP00000274609:A346V	ENSP00000251582:A346V	A	-	2	0	ADAMTS2	178518425	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.675000	0.98638	2.731000	0.93534	0.650000	0.86243	GCC		0.592	ADAMTS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253507.1	NM_014244		7	59	0	0	0	1	0	7	59					A	178585819	G	A	178585819	3	1	301	1	0	0	0	0	1	0	0	0	265	1203	42	3	2741	3	ADAMTS2	5	178585819	Missense_Mutation	SNP	G	TCGA-KC-A7F6-01A-11D-A33T-08	55867248	178585819	2329441	12	14373											
TRIM39	56658	broad.mit.edu	37	chr6	30308085	30308085	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttcggaggctcactctcaacGatctgtccacgggatcataa	10	10	9	12	3	4	0	3	0	2	0	7	3	5	2	1	3	1	1	1	3	2	2			TCGA-KC-A7F6-01A-11D-A33T-08	TCGA-KC-A7F6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2de10b8-8e9d-4cf0-bc63-b624df4eca9d	6b09169a-4356-4d2b-a82b-0ac0e7bceb74	g.chr6:30308085G>A	ENST00000396547.1	+	6	1000	c.840G>A	c.(838-840)acG>acA	p.T280T	TRIM39_ENST00000396551.3_Intron|TRIM39-RPP21_ENST00000513556.1_Intron|TRIM39_ENST00000540416.1_Intron|TRIM39_ENST00000396548.1_Intron|TRIM39_ENST00000376659.5_Intron|TRIM39_ENST00000376656.4_Silent_p.T280T			Q9HCM9	TRI39_HUMAN	tripartite motif containing 39	280					apoptotic process (GO:0006915)|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000059)|positive regulation of apoptotic signaling pathway (GO:2001235)|protein ubiquitination (GO:0016567)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	identical protein binding (GO:0042802)|ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			ovary(3)	3						CACTCTCAACGATCTGTCCAC	0.463																																						ENST00000376656.4																			0				ovary(3)	3						c.(838-840)acG>acA		tripartite motif containing 39							67	64	65					6																	30308085		1510	2709	4219	SO:0001819	synonymous_variant	56658							g.chr6:30308085G>A	BC034985	CCDS34377.1, CCDS34378.1	6p22.1	2013-01-09	2011-01-25	2002-06-07	ENSG00000204599	ENSG00000204599		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	10065	protein-coding gene	gene with protein product		605700	"ring finger protein 23", "tripartite motif-containing 39"	RNF23		11006080	Standard	NM_021253		Approved			Q9HCM9	OTTHUMG00000031066	ENST00000396547.1:c.840G>A	6.37:g.30308085G>A						TRIM39_ENST00000396547.1_Silent_p.T280T|TRIM39_ENST00000396551.3_Intron|TRIM39_ENST00000396548.1_Intron|TRIM39_ENST00000540416.1_Intron|TRIM39-RPP21_ENST00000513556.1_Intron|TRIM39_ENST00000376659.5_Intron	p.T280T	NM_021253.3	NP_067076.2					7	1152	+								Q5STG3|Q5STG4|Q76BL3|Q8IYT9|Q96IB6	Silent	SNP	ENST00000396547.1	37	c.840G>A	CCDS34377.1																																																																																				0.463	TRIM39-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000076086.2	NM_172016		14	44	0	0	0	1	0	14	44					A	30308085	G	A	30308085	2	1	301	1	0	0	0	0	0	0	0	1	16510	1045	37	2		2	TRIM39	6	30308085	Silent	SNP	G	TCGA-KC-A7F6-01A-11D-A33T-08		30308085	140806982	13	14374											
MYO6	4646	broad.mit.edu	37	chr6	76576719	76576719	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttaatatgtgaatccagagAtaagtttatacgggaattat	15	14	8	4	1	0	2	0	1	0	1	1	4	1	3	1	1	1	1	1	1	8	7			TCGA-KC-A7F6-01A-11D-A33T-08	TCGA-KC-A7F6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2de10b8-8e9d-4cf0-bc63-b624df4eca9d	6b09169a-4356-4d2b-a82b-0ac0e7bceb74	g.chr6:76576719A>T	ENST00000369977.3	+	18	1980	c.1841A>T	c.(1840-1842)gAt>gTt	p.D614V	MYO6_ENST00000369975.1_Missense_Mutation_p.D614V|RNA5SP209_ENST00000411237.1_RNA|MYO6_ENST00000369985.4_Missense_Mutation_p.D614V|MYO6_ENST00000369981.3_Missense_Mutation_p.D614V|snoU13_ENST00000459013.1_RNA	NM_004999.3	NP_004990.3	Q9UM54	MYO6_HUMAN	myosin VI	614	Myosin motor.				actin filament-based movement (GO:0030048)|auditory receptor cell differentiation (GO:0042491)|cellular response to electrical stimulus (GO:0071257)|dendrite development (GO:0016358)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|endocytosis (GO:0006897)|glutamate secretion (GO:0014047)|inner ear morphogenesis (GO:0042472)|intracellular protein transport (GO:0006886)|locomotory behavior (GO:0007626)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein targeting (GO:0006605)|regulation of secretion (GO:0051046)|regulation of synaptic plasticity (GO:0048167)|response to drug (GO:0042493)|sensory perception of sound (GO:0007605)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	apical part of cell (GO:0045177)|axon (GO:0030424)|cell cortex (GO:0005938)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|endocytic vesicle (GO:0030139)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|microvillus (GO:0005902)|neuronal cell body (GO:0043025)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|ruffle membrane (GO:0032587)|unconventional myosin complex (GO:0016461)|vesicle membrane (GO:0012506)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|minus-end directed microfilament motor activity (GO:0060001)|motor activity (GO:0003774)			breast(2)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(16)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	58		all_hematologic(105;0.189)		BRCA - Breast invasive adenocarcinoma(397;0.223)		GAATCCAGAGATAAGTTTATA	0.318																																						ENST00000369981.3																			0				breast(2)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(16)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						c.(1840-1842)gAt>gTt		myosin VI							76	75	75					6																	76576719		2203	4299	6502	SO:0001583	missense	4646				actin filament-based movement|DNA damage response, signal transduction by p53 class mediator|endocytosis|intracellular protein transport|positive regulation of transcription from RNA polymerase II promoter|regulation of secretion|sensory perception of sound|synaptic transmission	cell cortex|clathrin coated vesicle membrane|coated pit|cytosol|DNA-directed RNA polymerase II, holoenzyme|filamentous actin|Golgi apparatus|nuclear membrane|perinuclear region of cytoplasm|ruffle membrane|unconventional myosin complex	actin filament binding|ADP binding|ATP binding|calmodulin binding|minus-end directed microfilament motor activity|protein binding	g.chr6:76576719A>T	U90236, AB002387	CCDS34487.1, CCDS75481.1	6q14.1	2014-09-17	2004-05-19		ENSG00000196586	ENSG00000196586		"Myosins / Myosin superfamily : Class VI"	7605	protein-coding gene	gene with protein product		600970	"deafness, autosomal recessive 37"	DFNA22, DFNB37		9259267, 11468689	Standard	XM_005248719		Approved	KIAA0389	uc003pih.1	Q9UM54	OTTHUMG00000015061	ENST00000369977.3:c.1841A>T	6.37:g.76576719A>T	ENSP00000358994:p.Asp614Val					MYO6_ENST00000369985.4_Missense_Mutation_p.D614V|MYO6_ENST00000369975.1_Missense_Mutation_p.D614V|MYO6_ENST00000369977.3_Missense_Mutation_p.D614V	p.D614V			Q9UM54	MYO6_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.223)	18	2120	+		all_hematologic(105;0.189)	614			Myosin head-like.		A6H8V4|E1P540|Q5TEM5|Q5TEM6|Q5TEM7|Q9BZZ7|Q9UEG2	Missense_Mutation	SNP	ENST00000369977.3	37	c.1841A>T	CCDS34487.1	.	.	.	.	.	.	.	.	.	.	A	20.4	3.984053	0.74474	.	.	ENSG00000196586	ENST00000428345;ENST00000369981;ENST00000369985;ENST00000369977;ENST00000369975	D;D;D;D	0.87887	-2.31;-2.31;-2.31;-2.31	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	D	0.87993	0.6318	L	0.49778	1.585	0.80722	D	1	D;D	0.89917	1.0;0.997	D;D	0.77557	0.986;0.99	D	0.85455	0.1163	10	0.16896	T	0.51	.	15.7396	0.77882	1.0:0.0:0.0:0.0	.	614;614	Q9UM54-2;Q9UM54-1	.;.	V	614	ENSP00000358998:D614V;ENSP00000359002:D614V;ENSP00000358994:D614V;ENSP00000358992:D614V	ENSP00000358992:D614V	D	+	2	0	MYO6	76633439	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	8.883000	0.92426	2.179000	0.69175	0.528000	0.53228	GAT		0.318	MYO6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041279.2	NM_004999		12	24	0	0	0	1	0	12	24					T	76576719	A	T	76576719	3	4	301	1	0	0	0	0	1	0	0	0	10081	333	12	5	1907	5	MYO6	6	76576719	Missense_Mutation	SNP	A	TCGA-KC-A7F6-01A-11D-A33T-08	46268634	76576719	94538348	14	14375											
FLNC	2318	broad.mit.edu	37	chr7	128484983	128484983	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cattcggcctgtgtttgaccCgagcaaggtgcgggccagtg	6	9	15	11	3	0	1	0	1	0	0	1	2	0	1	3	3	2	2	3	3	1	2			TCGA-KC-A7F6-01A-11D-A33T-08	TCGA-KC-A7F6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2de10b8-8e9d-4cf0-bc63-b624df4eca9d	6b09169a-4356-4d2b-a82b-0ac0e7bceb74	g.chr7:128484983C>T	ENST00000325888.8	+	21	3725	c.3464C>T	c.(3463-3465)cCg>cTg	p.P1155L	FLNC_ENST00000346177.6_Missense_Mutation_p.P1155L	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	1155					cell junction assembly (GO:0034329)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|cytoskeletal protein binding (GO:0008092)	p.P1155L(1)		biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						GTGTTTGACCCGAGCAAGGTG	0.652																																						ENST00000325888.8																			1	Substitution - Missense(1)	p.P1155L(1)	ovary(1)	biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						c.(3463-3465)cCg>cTg		filamin C, gamma							59	64	62					7																	128484983		2108	4228	6336	SO:0001583	missense	2318				cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding	g.chr7:128484983C>T	AB208865	CCDS43644.1, CCDS47705.1	7q32-q35	2014-09-17	2009-07-23		ENSG00000128591	ENSG00000128591			3756	protein-coding gene	gene with protein product	"actin binding protein 280"	102565	"filamin C, gamma (actin binding protein 280)"	FLN2		7689010, 8088838	Standard	NM_001458		Approved	ABP-280, ABPL	uc003vnz.4	Q14315	OTTHUMG00000023627	ENST00000325888.8:c.3464C>T	7.37:g.128484983C>T	ENSP00000327145:p.Pro1155Leu					FLNC_ENST00000346177.6_Missense_Mutation_p.P1155L	p.P1155L	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN			21	3725	+			1155					B2ZZ88|O95303|Q07985|Q9NS12|Q9NYE5|Q9UMR8|Q9Y503	Missense_Mutation	SNP	ENST00000325888.8	37	c.3464C>T	CCDS43644.1	.	.	.	.	.	.	.	.	.	.	C	18.13	3.554408	0.65425	.	.	ENSG00000128591	ENST00000325888;ENST00000346177	D;D	0.86432	-2.12;-2.12	5.56	5.56	0.83823	Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.92668	0.7670	M	0.89414	3.03	0.80722	D	1	D;D	0.65815	0.995;0.974	P;P	0.56343	0.796;0.698	D	0.93652	0.6974	10	0.87932	D	0	.	13.2469	0.60028	0.0:0.9179:0.0:0.0821	.	1155;1155	Q14315-2;Q14315	.;FLNC_HUMAN	L	1155	ENSP00000327145:P1155L;ENSP00000344002:P1155L	ENSP00000327145:P1155L	P	+	2	0	FLNC	128272219	0.720000	0.27996	0.959000	0.39883	0.364000	0.29643	2.972000	0.49256	2.615000	0.88500	0.555000	0.69702	CCG		0.652	FLNC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059948.3			6	57	0	0	0	1	0	6	57					T	128484983	C	T	128484983	3	4	301	1	0	0	0	0	1	0	0	0	5935	652	23	2	3546	2	FLNC	7	128484983	Missense_Mutation	SNP	C	TCGA-KC-A7F6-01A-11D-A33T-08		128484983	30653680	15	14376											
CSMD3	114788	broad.mit.edu	37	chr8	113267504	113267504	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tatgcagtgaggtgatgaacCactccaagtgccatctgctt	10	11	10	10	0	1	3	0	3	1	0	2	3	2	3	3	1	4	2	3	1	3	2			TCGA-KC-A7F6-01A-11D-A33T-08	TCGA-KC-A7F6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2de10b8-8e9d-4cf0-bc63-b624df4eca9d	6b09169a-4356-4d2b-a82b-0ac0e7bceb74	g.chr8:113267504C>A	ENST00000297405.5	-	62	10259	c.10015G>T	c.(10015-10017)Ggt>Tgt	p.G3339C	CSMD3_ENST00000455883.2_Missense_Mutation_p.G3170C|CSMD3_ENST00000352409.3_Missense_Mutation_p.G3269C|CSMD3_ENST00000343508.3_Missense_Mutation_p.G3299C	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3339	Sushi 26. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						GGTGATGAACCACTCCAAGTG	0.368										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												ENST00000297405.5																			0				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						c.(10015-10017)Ggt>Tgt		CUB and Sushi multiple domains 3							126	115	118					8																	113267504		2203	4299	6502	SO:0001583	missense	114788					integral to membrane|plasma membrane		g.chr8:113267504C>A	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.10015G>T	8.37:g.113267504C>A	ENSP00000297405:p.Gly3339Cys	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_ENST00000343508.3_Missense_Mutation_p.G3299C|CSMD3_ENST00000352409.3_Missense_Mutation_p.G3269C|CSMD3_ENST00000455883.2_Missense_Mutation_p.G3170C	p.G3339C	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN			62	10259	-			3339			Sushi 26.		Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	c.10015G>T	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	C	17.49	3.403634	0.62288	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.27890	1.64;1.64;1.64;1.64;1.64	5.2	5.2	0.72013	Complement control module (2);Sushi/SCR/CCP (3);	0.000000	0.64402	D	0.000001	T	0.73992	0.3658	H	0.98786	4.33	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.997	D;D;D	0.97110	1.0;0.999;0.936	D	0.85317	0.1082	10	0.87932	D	0	.	18.9452	0.92620	0.0:1.0:0.0:0.0	.	3170;3339;3299	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	C	3299;3339;2609;3170;3269	ENSP00000345799:G3299C;ENSP00000297405:G3339C;ENSP00000341558:G2609C;ENSP00000412263:G3170C;ENSP00000343124:G3269C	ENSP00000297405:G3339C	G	-	1	0	CSMD3	113336680	1.000000	0.71417	0.997000	0.53966	0.163000	0.22366	7.581000	0.82535	2.712000	0.92718	0.655000	0.94253	GGT		0.368	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		19	52	1	0	5.26018e-13	1	5.53703e-13	19	52					A	113267504	C	A	113267504	3	1	301	1	0	0	0	0	1	0	0	0	3946	594	21	5	1148	5	CSMD3	8	113267504	Missense_Mutation	SNP	C	TCGA-KC-A7F6-01A-11D-A33T-08		113267504	33096518	16	14377											
GRID1	2894	broad.mit.edu	37	chr10	87362425	87362425	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atccatgaggctgttcatgcGccggtggacctgctccaagt	7	10	12	12	2	1	1	1	1	0	0	3	2	3	2	4	3	2	3	4	3	1	1			TCGA-KC-A7F6-01A-11D-A33T-08	TCGA-KC-A7F6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2de10b8-8e9d-4cf0-bc63-b624df4eca9d	6b09169a-4356-4d2b-a82b-0ac0e7bceb74	g.chr10:87362425G>T	ENST00000327946.7	-	16	2720	c.2635C>A	c.(2635-2637)Cgc>Agc	p.R879S	GRID1_ENST00000536331.1_Missense_Mutation_p.R450S|RP11-93H12.2_ENST00000443311.1_RNA|GRID1_ENST00000552278.2_5'UTR	NM_017551.2	NP_060021.1	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1	879					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|social behavior (GO:0035176)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|ionotropic glutamate receptor complex (GO:0008328)|postsynaptic membrane (GO:0045211)	extracellular-glutamate-gated ion channel activity (GO:0005234)|ionotropic glutamate receptor activity (GO:0004970)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106						CTGTTCATGCGCCGGTGGACC	0.577										Multiple Myeloma(13;0.14)																												ENST00000327946.7																			0				NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106						c.(2635-2637)Cgc>Agc		glutamate receptor, ionotropic, delta 1	L-Glutamic Acid(DB00142)						45	38	40					10																	87362425		2203	4300	6503	SO:0001583	missense	2894					cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity	g.chr10:87362425G>T	AB033046	CCDS31236.1	10q22	2012-08-29			ENSG00000182771	ENSG00000182771		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4575	protein-coding gene	gene with protein product		610659					Standard	NM_017551		Approved	GluD1, KIAA1220	uc001kdl.1	Q9ULK0	OTTHUMG00000018650	ENST00000327946.7:c.2635C>A	10.37:g.87362425G>T	ENSP00000330148:p.Arg879Ser	Multiple Myeloma(13;0.14)				GRID1_ENST00000536331.1_Missense_Mutation_p.R450S|GRID1_ENST00000552278.2_5'UTR	p.R879S	NM_017551.2	NP_060021.1	Q9ULK0	GRID1_HUMAN			16	2720	-			879					B3KXD5|B7Z7L0|Q8IXT3	Missense_Mutation	SNP	ENST00000327946.7	37	c.2635C>A	CCDS31236.1	.	.	.	.	.	.	.	.	.	.	G	25.9	4.683661	0.88639	.	.	ENSG00000182771	ENST00000327946;ENST00000536331	T;T	0.16457	2.6;2.34	5.74	5.74	0.90152	.	0.472007	0.23204	N	0.050742	T	0.41259	0.1151	L	0.58101	1.795	0.80722	D	1	D	0.63880	0.993	D	0.74023	0.982	T	0.08166	-1.0735	10	0.72032	D	0.01	.	18.8961	0.92424	0.0:0.0:1.0:0.0	.	879	Q9ULK0	GRID1_HUMAN	S	879;450	ENSP00000330148:R879S;ENSP00000444455:R450S	ENSP00000330148:R879S	R	-	1	0	GRID1	87352405	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	7.987000	0.88182	2.703000	0.92315	0.591000	0.81541	CGC		0.577	GRID1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049148.3	XM_043613		3	20	1	0	0.150653	1	0.150653	3	20					T	87362425	G	T	87362425	3	4	301	1	0	0	0	0	1	0	0	0	6771	1087	38	5	398	5	GRID1	10	87362425	Missense_Mutation	SNP	G	TCGA-KC-A7F6-01A-11D-A33T-08		87362425	48172322	17	14378											
MKI67	4288	broad.mit.edu	37	chr10	129906577	129906577	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cacctcctgctggtttgggcGtaagcatggctttccctgct	4	13	11	13	1	0	0	0	0	0	0	2	0	2	0	3	3	3	6	3	3	1	3	rs117795868		TCGA-KC-A7F6-01A-11D-A33T-08	TCGA-KC-A7F6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2de10b8-8e9d-4cf0-bc63-b624df4eca9d	6b09169a-4356-4d2b-a82b-0ac0e7bceb74	g.chr10:129906577G>A	ENST00000368654.3	-	13	3902	c.3527C>T	c.(3526-3528)aCg>aTg	p.T1176M	MKI67_ENST00000368653.3_Missense_Mutation_p.T816M	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	1176	16 X 122 AA approximate repeats.				cell proliferation (GO:0008283)|cellular response to heat (GO:0034605)|DNA metabolic process (GO:0006259)|hyaluronan metabolic process (GO:0030212)|meiotic nuclear division (GO:0007126)|organ regeneration (GO:0031100)|response to organic cyclic compound (GO:0014070)	chromosome, centromeric region (GO:0000775)|condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				TGGTTTGGGCGTAAGCATGGC	0.463													G|||	1	0.000199681	0	0	5008	,	,		21842	0.001		0	False		,,,				2504	0					ENST00000368654.3																			0				NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159						c.(3526-3528)aCg>aTg		marker of proliferation Ki-67							292	278	283					10																	129906577		2203	4300	6503	SO:0001583	missense	4288				cell proliferation	nucleolus	ATP binding|protein C-terminus binding	g.chr10:129906577G>A	X65550	CCDS7659.1, CCDS53588.1	10q26.2	2014-06-12	2013-10-10		ENSG00000148773	ENSG00000148773			7107	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 105"	176741	"antigen identified by monoclonal antibody Ki-67"			2571566, 16206250	Standard	NM_002417		Approved	MIB-, PPP1R105	uc001lke.3	P46013	OTTHUMG00000019255	ENST00000368654.3:c.3527C>T	10.37:g.129906577G>A	ENSP00000357643:p.Thr1176Met					MKI67_ENST00000368653.3_Missense_Mutation_p.T816M	p.T1176M	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN			13	3902	-		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)	1176			16 X 122 AA approximate repeats.		Q5VWH2	Missense_Mutation	SNP	ENST00000368654.3	37	c.3527C>T	CCDS7659.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	12.05	1.822665	0.32237	.	.	ENSG00000148773	ENST00000368654;ENST00000368653;ENST00000537609	T;T	0.03301	3.98;3.98	2.74	1.83	0.25207	.	1.848640	0.03443	N	0.209516	T	0.15998	0.0385	M	0.72118	2.19	0.09310	N	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.78314	0.96;0.991;0.989	T	0.06058	-1.0848	10	0.52906	T	0.07	.	5.4955	0.16799	0.1565:0.0:0.8435:0.0	.	1175;816;1176	F5H4V4;P46013-2;P46013	.;.;KI67_HUMAN	M	1176;816;1175	ENSP00000357643:T1176M;ENSP00000357642:T816M	ENSP00000357642:T816M	T	-	2	0	MKI67	129796567	0.005000	0.15991	0.002000	0.10522	0.005000	0.04900	0.110000	0.15437	0.740000	0.32651	0.462000	0.41574	ACG		0.463	MKI67-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050999.1	NM_002417		4	235	0	0	0	1	0	4	235					A	129906577	G	A	129906577	3	1	301	1	0	0	0	0	1	0	0	0	9598	1145	40	1	6255	1	MKI67	10	129906577	Missense_Mutation	SNP	G	TCGA-KC-A7F6-01A-11D-A33T-08	42544152	129906577	5628170	18	14379											
SIRT3	23410	broad.mit.edu	37	chr11	233049	233049	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccccttgtcatgaagcagccGgagaaagtagtgagtgacgt	11	8	13	9	2	1	4	1	3	0	1	1	5	1	4	3	1	2	2	3	1	3	2	rs1734492		TCGA-KC-A7F6-01A-11D-A33T-08	TCGA-KC-A7F6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2de10b8-8e9d-4cf0-bc63-b624df4eca9d	6b09169a-4356-4d2b-a82b-0ac0e7bceb74	g.chr11:233049G>A	ENST00000382743.4	-	3	742	c.640C>T	c.(640-642)Cgg>Tgg	p.R214W	SIRT3_ENST00000532956.1_Missense_Mutation_p.R214W|SIRT3_ENST00000524564.1_Missense_Mutation_p.R150W|SIRT3_ENST00000529382.1_Missense_Mutation_p.R72W|SIRT3_ENST00000525319.1_Missense_Mutation_p.R133W|SIRT3_ENST00000528702.1_5'UTR	NM_001017524.2|NM_012239.5	NP_001017524.1|NP_036371.1	Q9NTG7	SIR3_HUMAN	sirtuin 3	214	Deacetylase sirtuin-type. {ECO:0000255|PROSITE-ProRule:PRU00236}.				aerobic respiration (GO:0009060)|peptidyl-lysine deacetylation (GO:0034983)|protein ADP-ribosylation (GO:0006471)|protein deacetylation (GO:0006476)	membrane (GO:0016020)|mitochondrion (GO:0005739)	NAD+ ADP-ribosyltransferase activity (GO:0003950)|NAD+ binding (GO:0070403)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|zinc ion binding (GO:0008270)			endometrium(1)|lung(5)|urinary_tract(1)	7		all_cancers(49;1.58e-09)|all_epithelial(84;2.71e-06)|Breast(177;0.000162)|Ovarian(85;0.000626)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;3.66e-27)|Epithelial(43;2.02e-26)|OV - Ovarian serous cystadenocarcinoma(40;2.9e-21)|BRCA - Breast invasive adenocarcinoma(625;3.88e-05)|Lung(200;0.111)|LUSC - Lung squamous cell carcinoma(625;0.129)		TGAAGCAGCCGGAGAAAGTAG	0.517																																						ENST00000382743.4																			0				endometrium(1)|lung(5)|urinary_tract(1)	7						c.(640-642)Cgg>Tgg		sirtuin 3							104	99	101					11																	233049		2203	4300	6503	SO:0001583	missense	23410				chromatin silencing|protein ADP-ribosylation|protein deacetylation	mitochondrial matrix	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides|NAD+ ADP-ribosyltransferase activity|NAD+ binding|protein binding|zinc ion binding	g.chr11:233049G>A	AF083108	CCDS7691.1, CCDS53590.1	11p15.5	2010-06-25	2010-06-25		ENSG00000142082	ENSG00000142082			14931	protein-coding gene	gene with protein product		604481	"sirtuin (silent mating type information regulation 2, S.cerevisiae, homolog) 3", "sirtuin (silent mating type information regulation 2 homolog) 3 (S. cerevisiae)"			10381378, 18215119	Standard	NM_012239		Approved	SIR2L3	uc001lok.4	Q9NTG7	OTTHUMG00000119074	ENST00000382743.4:c.640C>T	11.37:g.233049G>A	ENSP00000372191:p.Arg214Trp					SIRT3_ENST00000525319.1_Missense_Mutation_p.R133W|SIRT3_ENST00000524564.1_Missense_Mutation_p.R150W|SIRT3_ENST00000532956.1_Missense_Mutation_p.R214W|SIRT3_ENST00000528702.1_5'UTR|SIRT3_ENST00000529382.1_Missense_Mutation_p.R72W	p.R214W	NM_001017524.2|NM_012239.5	NP_001017524.1|NP_036371.1	Q9NTG7	SIRT3_HUMAN		all cancers(45;3.66e-27)|Epithelial(43;2.02e-26)|OV - Ovarian serous cystadenocarcinoma(40;2.9e-21)|BRCA - Breast invasive adenocarcinoma(625;3.88e-05)|Lung(200;0.111)|LUSC - Lung squamous cell carcinoma(625;0.129)	3	742	-		all_cancers(49;1.58e-09)|all_epithelial(84;2.71e-06)|Breast(177;0.000162)|Ovarian(85;0.000626)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)	214			Deacetylase sirtuin-type.		B7Z5U6|Q9Y6E8	Missense_Mutation	SNP	ENST00000382743.4	37	c.640C>T	CCDS7691.1	.	.	.	.	.	.	.	.	.	.	g	22.6	4.308319	0.81247	.	.	ENSG00000142082	ENST00000382743;ENST00000525319;ENST00000524564;ENST00000532956;ENST00000529382;ENST00000528469	T;T;T;T;T;T	0.18338	2.22;2.22;2.22;2.22;2.22;2.22	5.37	4.45	0.53987	.	0.220920	0.36778	N	0.002413	T	0.52917	0.1764	H	0.94847	3.59	0.49389	D	0.99978	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.87578	0.991;0.998;0.995;0.995;0.995	T	0.67432	-0.5672	10	0.87932	D	0	-13.2933	13.9595	0.64170	0.0:0.0:0.7271:0.2729	.	214;214;133;150;214	E9PM75;B7Z7G4;E9PK80;E9PN58;Q9NTG7	.;.;.;.;SIRT3_HUMAN	W	214;133;150;214;72;72	ENSP00000372191:R214W;ENSP00000435464:R133W;ENSP00000432937:R150W;ENSP00000433077:R214W;ENSP00000437216:R72W;ENSP00000432857:R72W	ENSP00000372191:R214W	R	-	1	2	SIRT3	223049	0.932000	0.31603	0.313000	0.25210	0.951000	0.60555	1.685000	0.37659	1.239000	0.43787	0.651000	0.88453	CGG		0.517	SIRT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239288.3			18	54	0	0	0	1	0	18	54					A	233049	G	A	233049	3	1	301	1	0	0	0	0	1	0	0	0	14339	1115	39	2	579	2	SIRT3	11	233049	Missense_Mutation	SNP	G	TCGA-KC-A7F6-01A-11D-A33T-08		233049	134773467	19	14380											
DENND5A	23258	broad.mit.edu	37	chr11	9167356	9167356	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtacgatcagaatgtggtacGggatcactgtttaggggaag	11	10	15	5	2	2	1	2	0	0	1	2	4	2	3	0	4	2	3	0	4	5	4	rs375787613		TCGA-KC-A7F6-01A-11D-A33T-08	TCGA-KC-A7F6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2de10b8-8e9d-4cf0-bc63-b624df4eca9d	6b09169a-4356-4d2b-a82b-0ac0e7bceb74	g.chr11:9167356G>A	ENST00000328194.3	-	17	3184	c.2864C>T	c.(2863-2865)cCg>cTg	p.P955L	DENND5A_ENST00000527700.1_Missense_Mutation_p.P298L|DENND5A_ENST00000530044.1_Missense_Mutation_p.P955L	NM_001243254.1|NM_015213.3	NP_001230183.1|NP_056028.2	Q6IQ26	DEN5A_HUMAN	DENN/MADD domain containing 5A	955	PLAT. {ECO:0000255|PROSITE- ProRule:PRU00152}.				positive regulation of Rab GTPase activity (GO:0032851)	Golgi apparatus (GO:0005794)|membrane (GO:0016020)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(16)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						AATGTGGTACGGGATCACTGT	0.498																																						ENST00000328194.3																			0				breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(16)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						c.(2863-2865)cCg>cTg		DENN/MADD domain containing 5A		G	LEU/PRO	1,4401	2.1+/-5.4	0,1,2200	229	227	228		2864	5.8	1	11		228	0,8592		0,0,4296	no	missense	DENND5A	NM_015213.3	98	0,1,6496	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	955/1288	9167356	1,12993	2201	4296	6497	SO:0001583	missense	23258							g.chr11:9167356G>A	AB029014	CCDS31423.1, CCDS58119.1	11p15.3	2012-10-03	2008-08-14	2008-08-14	ENSG00000184014	ENSG00000184014		"DENN/MADD domain containing"	19344	protein-coding gene	gene with protein product			"RAB6 interacting protein 1"	RAB6IP1		10470851	Standard	NM_015213		Approved	KIAA1091, FLJ22354, FLJ33829, FLJ43455	uc001mhl.3	Q6IQ26	OTTHUMG00000165716	ENST00000328194.3:c.2864C>T	11.37:g.9167356G>A	ENSP00000328524:p.Pro955Leu					DENND5A_ENST00000530044.1_Missense_Mutation_p.P955L|DENND5A_ENST00000527700.1_Missense_Mutation_p.P298L	p.P955L	NM_001243254.1|NM_015213.3	NP_001230183.1|NP_056028.2	Q6IQ26	DEN5A_HUMAN			17	3184	-			955			PLAT.		B4DJ15|E9PS91|Q96GN3|Q9H6U7|Q9UFV0|Q9UPR1	Missense_Mutation	SNP	ENST00000328194.3	37	c.2864C>T	CCDS31423.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	23.9|23.9	4.472957|4.472957	0.84640|0.84640	2.27E-4|2.27E-4	0.0|0.0	ENSG00000184014|ENSG00000184014	ENST00000328194;ENST00000530044;ENST00000527700|ENST00000525784	T;T;T|.	0.19394|.	3.62;3.62;2.15|.	5.85|5.85	5.85|5.85	0.93711|0.93711	Lipoxygenase, LH2 (2);Lipase/lipooxygenase, PLAT/LH2 (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.82342|0.82342	0.5016|0.5016	M|M	0.81802|0.81802	2.56|2.56	0.80722|0.80722	D|D	1|1	D;D|.	0.76494|.	0.991;0.999|.	P;D|.	0.65573|.	0.716;0.936|.	T|T	0.81799|0.81799	-0.0767|-0.0767	10|5	0.66056|.	D|.	0.02|.	.|.	20.1576|20.1576	0.98120|0.98120	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	955;955|.	E9PS91;Q6IQ26|.	.;DEN5A_HUMAN|.	L|C	955;955;298|3	ENSP00000328524:P955L;ENSP00000435866:P955L;ENSP00000432549:P298L|.	ENSP00000328524:P955L|.	P|R	-|-	2|1	0|0	DENND5A|DENND5A	9123932|9123932	1.000000|1.000000	0.71417|0.71417	0.986000|0.986000	0.45419|0.45419	0.994000|0.994000	0.84299|0.84299	9.869000|9.869000	0.99810|0.99810	2.773000|2.773000	0.95371|0.95371	0.650000|0.650000	0.86243|0.86243	CCG|CGT		0.498	DENND5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385910.2	NM_015213		4	238	0	0	0	1	0	4	238					A	9167356	G	A	9167356	3	1	301	1	0	0	0	0	1	0	0	0	4436	1116	39	2	1027	2	DENND5A	11	9167356	Missense_Mutation	SNP	G	TCGA-KC-A7F6-01A-11D-A33T-08	8934307	9167356	125839160	20	14381											
TYR	7299	broad.mit.edu	37	chr11	88911368	88911368	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accgggagtcgtggccttccGtcttttataataggacctgc	7	12	11	11	3	1	0	0	0	1	0	3	2	2	2	4	3	1	0	4	3	3	5	rs149684917		TCGA-KC-A7F6-01A-11D-A33T-08	TCGA-KC-A7F6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2de10b8-8e9d-4cf0-bc63-b624df4eca9d	6b09169a-4356-4d2b-a82b-0ac0e7bceb74	g.chr11:88911368G>A	ENST00000263321.5	+	1	749	c.247G>A	c.(247-249)Gtc>Atc	p.V83I	TYR_ENST00000526139.1_3'UTR	NM_000372.4	NP_000363.1	P14679	TYRO_HUMAN	tyrosinase	83					cell proliferation (GO:0008283)|eye pigment biosynthetic process (GO:0006726)|melanin biosynthetic process from tyrosine (GO:0006583)|thymus development (GO:0048538)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|Golgi-associated vesicle (GO:0005798)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|melanosome (GO:0042470)|perinuclear region of cytoplasm (GO:0048471)	copper ion binding (GO:0005507)|monophenol monooxygenase activity (GO:0004503)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48		Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.0033)			Azelaic Acid(DB00548)|Mimosine(DB01055)|Monobenzone(DB00600)	GTGGCCTTCCGTCTTTTATAA	0.512																																						ENST00000263321.5																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						c.(247-249)Gtc>Atc		tyrosinase	Azelaic Acid(DB00548)|Mimosine(DB01055)|NADH(DB00157)	G	ILE/VAL	0,4402		0,0,2201	43	42	43		247	3.2	0.5	11	dbSNP_134	43	1,8597	1.2+/-3.3	0,1,4298	no	missense	TYR	NM_000372.4	29	0,1,6499	AA,AG,GG		0.0116,0.0,0.0077	benign	83/530	88911368	1,12999	2201	4299	6500	SO:0001583	missense	7299				eye pigment biosynthetic process|melanin biosynthetic process from tyrosine|visual perception	Golgi-associated vesicle|integral to membrane|lysosome|melanosome membrane|perinuclear region of cytoplasm	copper ion binding|monophenol monooxygenase activity|protein heterodimerization activity|protein homodimerization activity	g.chr11:88911368G>A	M27160	CCDS8284.1	11q14.3	2013-09-27	2012-09-28		ENSG00000077498	ENSG00000077498	1.14.18.1		12442	protein-coding gene	gene with protein product	"oculocutaneous albinism IA"	606933					Standard	NM_000372		Approved	OCAIA, OCA1A, OCA1	uc001pcs.3	P14679	OTTHUMG00000167294	ENST00000263321.5:c.247G>A	11.37:g.88911368G>A	ENSP00000263321:p.Val83Ile					TYR_ENST00000526139.1_3'UTR	p.V83I	NM_000372.4	NP_000363.1	P14679	TYRO_HUMAN			1	749	+		Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.0033)	83					Q15675|Q15676|Q15680|Q8TAK4|Q9BYY0|Q9BZX1	Missense_Mutation	SNP	ENST00000263321.5	37	c.247G>A	CCDS8284.1	.	.	.	.	.	.	.	.	.	.	G	8.247	0.808214	0.16467	0.0	1.16E-4	ENSG00000077498	ENST00000263321	D	0.83591	-1.74	6.07	3.24	0.37175	Uncharacterised domain, di-copper centre (2);	0.232469	0.43919	N	0.000506	D	0.82834	0.5123	M	0.80508	2.5	0.35898	D	0.830158	B	0.21520	0.057	B	0.18561	0.022	T	0.80625	-0.1299	9	.	.	.	.	15.4391	0.75168	0.1263:0.0:0.8737:0.0	.	83	P14679	TYRO_HUMAN	I	83	ENSP00000263321:V83I	.	V	+	1	0	TYR	88551016	1.000000	0.71417	0.451000	0.26982	0.487000	0.33371	5.367000	0.66127	0.462000	0.27095	-0.940000	0.02684	GTC		0.512	TYR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394045.2	NM_000372		3	33	0	0	0	1	0	3	33					A	88911368	G	A	88911368	3	1	301	1	0	0	0	0	1	0	0	0	16810	1145	40	1	249	1	TYR	11	88911368	Missense_Mutation	SNP	G	TCGA-KC-A7F6-01A-11D-A33T-08	79744012	88911368	46095148	21	14382											
OR10G4	390264	broad.mit.edu	37	chr11	123886347	123886347	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccccatgccccagggctggaCgccctcctctttggaatctt	5	10	9	17	1	2	0	0	0	2	0	3	2	3	2	6	3	1	1	6	3	1	2			TCGA-KC-A7F6-01A-11D-A33T-08	TCGA-KC-A7F6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2de10b8-8e9d-4cf0-bc63-b624df4eca9d	6b09169a-4356-4d2b-a82b-0ac0e7bceb74	g.chr11:123886347C>T	ENST00000320891.4	+	1	66	c.66C>T	c.(64-66)gaC>gaT	p.D22D		NM_001004462.1	NP_001004462.1	Q8NGN3	O10G4_HUMAN	olfactory receptor, family 10, subfamily G, member 4	22						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)|skin(4)|stomach(6)|upper_aerodigestive_tract(1)	48		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401)		CAGGGCTGGACGCCCTCCTCT	0.582																																						ENST00000320891.4																			0				NS(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)|skin(4)|stomach(6)|upper_aerodigestive_tract(1)	48						c.(64-66)gaC>gaT		olfactory receptor, family 10, subfamily G, member 4							160	110	127					11																	123886347		2202	4297	6499	SO:0001819	synonymous_variant	390264				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:123886347C>T	AB065757	CCDS31702.1	11q24.1	2012-08-09			ENSG00000254737	ENSG00000254737		"GPCR / Class A : Olfactory receptors"	14809	protein-coding gene	gene with protein product							Standard	NM_001004462		Approved		uc010sac.2	Q8NGN3	OTTHUMG00000165966	ENST00000320891.4:c.66C>T	11.37:g.123886347C>T							p.D22D	NM_001004462.1	NP_001004462.1	Q8NGN3	O10G4_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401)	1	66	+		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	22					Q6IEW0	Silent	SNP	ENST00000320891.4	37	c.66C>T	CCDS31702.1																																																																																				0.582	OR10G4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387268.1	NM_001004462		41	77	0	0	0	1	0	41	77					T	123886347	C	T	123886347	2	4	301	1	0	0	0	0	0	0	0	1	10901	535	19	1		1	OR10G4	11	123886347	Silent	SNP	C	TCGA-KC-A7F6-01A-11D-A33T-08	34974979	123886347	11120169	22	14383											
PATE2	399967	broad.mit.edu	37	chr11	125647896	125647896	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcataacacattatttcagtCgctgccagatacaaaaagag	16	10	6	9	1	2	2	2	0	0	2	3	2	2	2	1	0	3	1	1	0	5	4			TCGA-KC-A7F6-01A-11D-A33T-08	TCGA-KC-A7F6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2de10b8-8e9d-4cf0-bc63-b624df4eca9d	6b09169a-4356-4d2b-a82b-0ac0e7bceb74	g.chr11:125647896C>T	ENST00000358524.3	-	3	123	c.78G>A	c.(76-78)gcG>gcA	p.A26A	PATE2_ENST00000436890.2_Intron	NM_212555.2	NP_997720.1	Q6UY27	PATE2_HUMAN	prostate and testis expressed 2	26						extracellular space (GO:0005615)		p.A26A(2)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|prostate(1)	6						TTATTTCAGTCGCTGCCAGAT	0.438																																						ENST00000358524.3																			2	Substitution - coding silent(2)	p.A26A(2)	large_intestine(1)|endometrium(1)	endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|prostate(1)	6						c.e3-1		prostate and testis expressed 2							99	91	94					11																	125647896		2201	4299	6500	SO:0001630	splice_region_variant	399967					extracellular space		g.chr11:125647896C>T	AY358105	CCDS8465.1	11q24.2	2008-12-17	2008-12-17	2008-12-17		ENSG00000196844		"PATE family"	32249	protein-coding gene	gene with protein product			"chromosome 11 open reading frame 38"	C11orf38			Standard	NM_212555		Approved	UNQ3112, LVLF3112, PATE-M	uc001qcu.3	Q6UY27		ENST00000358524.3:c.77-1G>A	11.37:g.125647896C>T						PATE2_ENST00000436890.2_Intron	p.A26_splice	NM_212555.2	NP_997720.1	Q6UY27	PATE2_HUMAN			3	123	-			26					B2RNZ2|B7ZMG4	Splice_Site	SNP	ENST00000358524.3	37	c.76_splice	CCDS8465.1																																																																																				0.438	PATE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386729.1	NM_212555	Silent	21	36	0	0	0	1	0	21	36					T	125647896	C	T	125647896	5	4	301	1	0	0	0	0	0	0	1	0	11474	898	31	2	271	2	PATE2	11	125647896	Splice_Site	SNP	C	TCGA-KC-A7F6-01A-11D-A33T-08	1761549	125647896	9358620	23	14384											
AKAP3	10566	broad.mit.edu	37	chr12	4735742	4735742	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcagctacccattgaaggaCggcttggagttgcttgttct	7	12	13	9	1	1	1	0	1	1	0	1	3	1	3	1	4	3	6	1	4	2	6	rs148740017		TCGA-KC-A7F6-01A-11D-A33T-08	TCGA-KC-A7F6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2de10b8-8e9d-4cf0-bc63-b624df4eca9d	6b09169a-4356-4d2b-a82b-0ac0e7bceb74	g.chr12:4735742C>T	ENST00000545990.2	-	5	2850	c.2326G>A	c.(2326-2328)Gtc>Atc	p.V776I	RP11-500M8.7_ENST00000536588.1_Intron|AKAP3_ENST00000228850.1_Missense_Mutation_p.V776I	NM_001278309.1	NP_001265238.1	O75969	AKAP3_HUMAN	A kinase (PRKA) anchor protein 3	776					acrosome reaction (GO:0007340)|cellular component movement (GO:0006928)|protein localization (GO:0008104)|single fertilization (GO:0007338)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	acrosomal vesicle (GO:0001669)|nucleus (GO:0005634)|sperm fibrous sheath (GO:0035686)|sperm principal piece (GO:0097228)	protein kinase A binding (GO:0051018)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|liver(1)|lung(17)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	51						CATTGAAGGACGGCTTGGAGT	0.507													C|||	1	0.000199681	8e-04	0	5008	,	,		20925	0		0	False		,,,				2504	0					ENST00000545990.2																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|liver(1)|lung(17)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	51						c.(2326-2328)Gtc>Atc		A kinase (PRKA) anchor protein 3		C	ILE/VAL	6,4400	11.4+/-27.6	0,6,2197	161	147	152		2326	4.9	0.8	12	dbSNP_134	152	1,8599	1.2+/-3.3	0,1,4299	yes	missense	AKAP3	NM_006422.2	29	0,7,6496	TT,TC,CC		0.0116,0.1362,0.0538	probably-damaging	776/854	4735742	7,12999	2203	4300	6503	SO:0001583	missense	10566				acrosome reaction|cellular component movement	acrosomal vesicle	protein kinase A binding	g.chr12:4735742C>T	U85715	CCDS8531.1	12p13.3	2009-03-12				ENSG00000111254		"A-kinase anchor proteins"	373	protein-coding gene	gene with protein product	"Fibrous Sheath Protein of 95 kDa", "cancer/testis antigen 82"	604689				10334916, 10319321	Standard	NM_001278309		Approved	FSP95, SOB1, AKAP110, CT82	uc001qnb.4	O75969		ENST00000545990.2:c.2326G>A	12.37:g.4735742C>T	ENSP00000440994:p.Val776Ile					AKAP3_ENST00000228850.1_Missense_Mutation_p.V776I	p.V776I	NM_001278309.1	NP_001265238.1	O75969	AKAP3_HUMAN			5	2850	-			776					O75945|Q86X01|Q9UM61	Missense_Mutation	SNP	ENST00000545990.2	37	c.2326G>A	CCDS8531.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	17.60	3.429926	0.62844	0.001362	1.16E-4	ENSG00000111254	ENST00000228850;ENST00000545990	T;T	0.11930	2.73;2.73	4.91	4.91	0.64330	A-kinase anchor 110kDa, C-terminal (1);	0.000000	0.53938	D	0.000046	T	0.38532	0.1044	M	0.78801	2.425	0.32696	N	0.513557	D	0.89917	1.0	D	0.81914	0.995	T	0.52079	-0.8623	10	0.62326	D	0.03	-24.8928	15.1144	0.72388	0.0:1.0:0.0:0.0	.	776	O75969	AKAP3_HUMAN	I	776	ENSP00000228850:V776I;ENSP00000440994:V776I	ENSP00000228850:V776I	V	-	1	0	AKAP3	4606003	0.912000	0.30974	0.832000	0.32986	0.981000	0.71138	1.714000	0.37961	2.544000	0.85801	0.655000	0.94253	GTC		0.507	AKAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398911.2	NM_006422		29	66	0	0	0	1	0	29	66					T	4735742	C	T	4735742	3	4	301	1	0	0	0	0	1	0	0	0	452	536	19	1	243	1	AKAP3	12	4735742	Missense_Mutation	SNP	C	TCGA-KC-A7F6-01A-11D-A33T-08		4735742	129116153	24	14385											
TP53	7157	broad.mit.edu	37	chr17	7579402	7579418	+	Frame_Shift_Del	DEL	AGATGACAGGGGCCAGG	AGATGACAGGGGCCAGG	-																															gttttctgggaagggacagaAgatgacaggggccaggaggg																										TCGA-KC-A7F6-01A-11D-A33T-08	TCGA-KC-A7F6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2de10b8-8e9d-4cf0-bc63-b624df4eca9d	6b09169a-4356-4d2b-a82b-0ac0e7bceb74	g.chr17:7579402_7579418delAGATGACAGGGGCCAGG	ENST00000269305.4	-	4	458_474	c.269_285delCCTGGCCCCTGTCATCT	c.(268-285)tcctggcccctgtcatctfs	p.SWPLSS90fs	TP53_ENST00000420246.2_Frame_Shift_Del_p.SWPLSS90fs|TP53_ENST00000359597.4_Frame_Shift_Del_p.SWPLSS90fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.SWPLSS90fs|TP53_ENST00000413465.2_Frame_Shift_Del_p.SWPLSS90fs|TP53_ENST00000455263.2_Frame_Shift_Del_p.SWPLSS90fs|TP53_ENST00000574684.1_5'Flank	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	90	Interaction with WWOX.		S -> F (in sporadic cancers; somatic mutation).|S -> Y (in a sporadic cancer; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.W91*(20)|p.0?(8)|p.L93fs*30(5)|p.A88fs*32(3)|p.S95F(3)|p.A76_S90del15(3)|p.S94*(3)|p.G59fs*23(3)|p.S94T(2)|p.S94fs*29(1)|p.P85fs*58(1)|p.W91fs*57(1)|p.W91fs*13(1)|p.A88fs*52(1)|p.V73fs*9(1)|p.D48fs*55(1)|p.L93M(1)|p.P87fs*54(1)|p.S96fs*53(1)|p.P92fs*57(1)|p.S94fs*54(1)|p.S33fs*23(1)|p.P13fs*18(1)|p.S90F(1)|p.P92A(1)|p.P92L(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	AAGGGACAGAAGATGACAGGGGCCAGGAGGGGGCTGG	0.631		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"Mis, N, F"	tumor protein p53			"L, E, M, O"		"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"	"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"		67	Substitution - Nonsense(23)|Deletion - Frameshift(22)|Substitution - Missense(9)|Whole gene deletion(8)|Deletion - In frame(3)|Insertion - Frameshift(2)	p.W91*(20)|p.0?(8)|p.L93fs*30(5)|p.A88fs*32(3)|p.S95F(3)|p.A76_S90del15(3)|p.S94*(3)|p.G59fs*23(3)|p.S94T(2)|p.S94fs*29(1)|p.P85fs*58(1)|p.W91fs*57(1)|p.W91fs*13(1)|p.A88fs*52(1)|p.V73fs*9(1)|p.D48fs*55(1)|p.L93M(1)|p.P87fs*54(1)|p.S96fs*53(1)|p.P92fs*57(1)|p.S94fs*54(1)|p.S33fs*23(1)|p.P13fs*18(1)|p.S90F(1)|p.P92A(1)|p.P92L(1)	lung(16)|breast(10)|upper_aerodigestive_tract(7)|haematopoietic_and_lymphoid_tissue(6)|urinary_tract(6)|skin(5)|prostate(4)|bone(4)|central_nervous_system(3)|large_intestine(2)|oesophagus(2)|stomach(1)|liver(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185	GRCh37	CM065495	TP53	M		c.(268-285)tfs	Other conserved DNA damage response genes	tumor protein p53																																				SO:0001589	frameshift_variant	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7579402_7579418delAGATGACAGGGGCCAGG	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"Li-Fraumeni syndrome"	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.269_285delCCTGGCCCCTGTCATCT	17.37:g.7579402_7579418delAGATGACAGGGGCCAGG	ENSP00000269305:p.Ser90fs	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_ENST00000455263.2_Frame_Shift_Del_p.SWPLSS90fs|TP53_ENST00000413465.2_Frame_Shift_Del_p.SWPLSS90fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.SWPLSS90fs|TP53_ENST00000269305.4_Frame_Shift_Del_p.SWPLSS90fs|TP53_ENST00000359597.4_Frame_Shift_Del_p.SWPLSS90fs	p.SWPLSS90fs	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	4	401_417	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	90		S -> F (in sporadic cancers; somatic mutation).|S -> Y (in a sporadic cancer; somatic mutation).	Interaction with WWOX.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Frame_Shift_Del	DEL	ENST00000269305.4	37	c.269_285delCCTGGCCCCTGTCATCT	CCDS11118.1																																																																																				0.631	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		28	31						28	31	---	---	---	---	-	7579418	AGATGACAGGGGCCAGG	-	7579402	7	5	301	1	0	1	0	1	0	0	0	0	16378	59	3	0	1017	0	TP53	17	7579402	Frame_Shift_Del	DEL	AGATGACAGGGGCCAGG	TCGA-KC-A7F6-01A-11D-A33T-08		7579402	73615808	25	14386											
CNTNAP1	8506	broad.mit.edu	37	chr17	40849769	40849769	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	attgcggagctatgccacgtCttgtttcagaggtgccacct	7	12	11	11	2	2	1	1	0	1	1	2	2	2	2	3	2	4	2	3	2	1	4			TCGA-KC-A7F6-01A-11D-A33T-08	TCGA-KC-A7F6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2de10b8-8e9d-4cf0-bc63-b624df4eca9d	6b09169a-4356-4d2b-a82b-0ac0e7bceb74	g.chr17:40849769C>T	ENST00000264638.4	+	22	3983	c.3766C>T	c.(3766-3768)Ctt>Ttt	p.L1256F	CTD-3193K9.3_ENST00000592440.1_RNA	NM_003632.2	NP_003623.1	P78357	CNTP1_HUMAN	contactin associated protein 1	1256					axon cargo transport (GO:0008088)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cytoskeleton organization (GO:0007010)|neuromuscular process controlling balance (GO:0050885)|neuromuscular process controlling posture (GO:0050884)|neuron projection morphogenesis (GO:0048812)|neuronal action potential propagation (GO:0019227)|paranodal junction assembly (GO:0030913)|positive regulation of signal transduction (GO:0009967)|protein localization to paranode region of axon (GO:0002175)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|paranode region of axon (GO:0033270)|voltage-gated potassium channel complex (GO:0008076)	receptor activity (GO:0004872)|SH3 domain binding (GO:0017124)|SH3/SH2 adaptor activity (GO:0005070)			NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|lung(15)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.143)		TATGCCACGTCTTGTTTCAGA	0.562																																						ENST00000264638.4																			0				NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|lung(15)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						c.(3766-3768)Ctt>Ttt		contactin associated protein 1							177	172	174					17																	40849769		2203	4300	6503	SO:0001583	missense	8506				axon guidance|cell adhesion	paranode region of axon	receptor activity|receptor binding|SH3 domain binding|SH3/SH2 adaptor activity	g.chr17:40849769C>T	U87223	CCDS11436.1	17q21	2008-07-18				ENSG00000108797			8011	protein-coding gene	gene with protein product	"neurexin 4"	602346		NRXN4		9118959	Standard	NM_003632		Approved	p190, Caspr, CNTNAP	uc002iay.3	P78357		ENST00000264638.4:c.3766C>T	17.37:g.40849769C>T	ENSP00000264638:p.Leu1256Phe					CTD-3193K9.3_ENST00000592440.1_RNA	p.L1256F	NM_003632.2	NP_003623.1	P78357	CNTP1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.143)	22	3983	+		Breast(137;0.000143)	1256						Missense_Mutation	SNP	ENST00000264638.4	37	c.3766C>T	CCDS11436.1	.	.	.	.	.	.	.	.	.	.	C	1.638	-0.517163	0.04171	.	.	ENSG00000108797	ENST00000264638	D	0.90004	-2.6	5.48	3.24	0.37175	.	0.382752	0.22753	N	0.056050	T	0.69984	0.3172	N	0.08118	0	0.09310	N	1	B	0.33379	0.41	B	0.25291	0.059	T	0.58036	-0.7707	10	0.25106	T	0.35	.	4.5385	0.12045	0.1935:0.586:0.1307:0.0898	.	1256	P78357	CNTP1_HUMAN	F	1256	ENSP00000264638:L1256F	ENSP00000264638:L1256F	L	+	1	0	CNTNAP1	38103295	0.013000	0.17824	0.157000	0.22605	0.339000	0.28857	1.130000	0.31393	2.564000	0.86499	0.650000	0.86243	CTT		0.562	CNTNAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452342.1	NM_003632		5	123	0	0	0	1	0	5	123					T	40849769	C	T	40849769	3	4	301	1	0	0	0	0	1	0	0	0	3646	913	32	3	3852	3	CNTNAP1	17	40849769	Missense_Mutation	SNP	C	TCGA-KC-A7F6-01A-11D-A33T-08	33270367	40849769	40345441	26	14387											
MUC16	94025	broad.mit.edu	37	chr19	9085096	9085096	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tactctcagccccatctgaaGgtgtgtcaattacatctgat	10	13	7	11	0	4	2	2	2	3	0	5	2	4	2	2	1	3	0	2	1	4	2			TCGA-KC-A7F6-01A-11D-A33T-08	TCGA-KC-A7F6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2de10b8-8e9d-4cf0-bc63-b624df4eca9d	6b09169a-4356-4d2b-a82b-0ac0e7bceb74	g.chr19:9085096G>T	ENST00000397910.4	-	1	6922	c.6719C>A	c.(6718-6720)cCt>cAt	p.P2240H		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	2240	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CCCATCTGAAGGTGTGTCAAT	0.473																																						ENST00000397910.4																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(6718-6720)cCt>cAt		mucin 16, cell surface associated							112	107	109					19																	9085096		1970	4173	6143	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9085096G>T	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.6719C>A	19.37:g.9085096G>T	ENSP00000381008:p.Pro2240His						p.P2240H	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			1	6922	-			2240			Ser-rich.|Thr-rich.		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.6719C>A	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	g	0.743	-0.775494	0.02951	.	.	ENSG00000181143	ENST00000397910	T	0.03301	3.98	0.225	0.225	0.15325	.	.	.	.	.	T	0.05547	0.0146	N	0.08118	0	.	.	.	D	0.76494	0.999	D	0.72982	0.979	T	0.41360	-0.9513	7	0.87932	D	0	.	.	.	.	.	2240	B5ME49	.	H	2240	ENSP00000381008:P2240H	ENSP00000381008:P2240H	P	-	2	0	MUC16	8946096	0.082000	0.21442	0.060000	0.19600	0.064000	0.16182	0.792000	0.26929	0.300000	0.22699	0.305000	0.20034	CCT		0.473	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		11	19	1	0	2.80697e-09	1	2.87895e-09	11	19					T	9085096	G	T	9085096	3	4	301	1	0	0	0	0	1	0	0	0	9973	1000	35	5	37140	5	MUC16	19	9085096	Missense_Mutation	SNP	G	TCGA-KC-A7F6-01A-11D-A33T-08		9085096	50043887	27	14388											
MUC16	94025	broad.mit.edu	37	chr19	9086805	9086805	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atagagacagtggctgtagaActtcttctttccagtgccat	10	13	9	9	0	2	2	0	0	2	2	3	3	3	2	2	1	2	2	2	1	3	5			TCGA-KC-A7F6-01A-11D-A33T-08	TCGA-KC-A7F6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2de10b8-8e9d-4cf0-bc63-b624df4eca9d	6b09169a-4356-4d2b-a82b-0ac0e7bceb74	g.chr19:9086805A>G	ENST00000397910.4	-	1	5213	c.5010T>C	c.(5008-5010)agT>agC	p.S1670S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	1670	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TGGCTGTAGAACTTCTTCTTT	0.517																																						ENST00000397910.4																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(5008-5010)agT>agC		mucin 16, cell surface associated							101	99	99					19																	9086805		2000	4176	6176	SO:0001819	synonymous_variant	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9086805A>G	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.5010T>C	19.37:g.9086805A>G							p.S1670S	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			1	5213	-			1670			Ser-rich.|Thr-rich.		Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	c.5010T>C	CCDS54212.1																																																																																				0.517	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		5	79	0	0	0	1	0	5	79					G	9086805	A	G	9086805	2	3	301	1	0	0	0	0	0	0	0	1	9973	40	2	4		4	MUC16	19	9086805	Silent	SNP	A	TCGA-KC-A7F6-01A-11D-A33T-08	1709	9086805	50042178	28	14389											
ZNF229	7772	broad.mit.edu	37	chr19	44933129	44933129	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aggaggtcggagctgtagatGaaacccttcccacacacgtc	11	7	11	12	2	0	2	0	1	0	1	3	4	1	4	2	3	2	2	2	3	2	2			TCGA-KC-A7F6-01A-11D-A33T-08	TCGA-KC-A7F6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2de10b8-8e9d-4cf0-bc63-b624df4eca9d	6b09169a-4356-4d2b-a82b-0ac0e7bceb74	g.chr19:44933129G>A	ENST00000588931.1	-	6	2260	c.1827C>T	c.(1825-1827)ttC>ttT	p.F609F	CTC-512J12.4_ENST00000588655.1_RNA|ZNF229_ENST00000591289.1_Intron|ZNF229_ENST00000291187.4_Silent_p.F603F	NM_014518.2	NP_055333.2	Q9UJW7	ZN229_HUMAN	zinc finger protein 229	609					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(5)|central_nervous_system(2)|endometrium(6)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	45		Prostate(69;0.0352)				AGCTGTAGATGAAACCCTTCC	0.557																																						ENST00000291187.4																			0				breast(5)|central_nervous_system(2)|endometrium(6)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	45						c.(1807-1809)ttC>ttT		zinc finger protein 229							73	79	77					19																	44933129		2178	4293	6471	SO:0001819	synonymous_variant	7772				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44933129G>A	AF192979	CCDS42574.1, CCDS62706.1	19q13.2	2013-01-08				ENSG00000278318		"Zinc fingers, C2H2-type", "-"	13022	protein-coding gene	gene with protein product							Standard	XM_006723372		Approved		uc002oze.1	Q9UJW7		ENST00000588931.1:c.1827C>T	19.37:g.44933129G>A						CTC-512J12.4_ENST00000588655.1_RNA|ZNF229_ENST00000591289.1_Intron|ZNF229_ENST00000588931.1_Silent_p.F609F	p.F603F	NM_001278510.1	NP_001265439.1	Q9UJW7	ZN229_HUMAN			6	2131	-		Prostate(69;0.0352)	609					B2RWN3|Q59FV2|Q86WL9	Silent	SNP	ENST00000588931.1	37	c.1809C>T	CCDS42574.1																																																																																				0.557	ZNF229-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460833.1	NM_014518		14	65	0	0	0	1	0	14	65					A	44933129	G	A	44933129	2	1	301	1	0	0	0	0	0	0	0	1	17779	1281	45	3		3	ZNF229	19	44933129	Silent	SNP	G	TCGA-KC-A7F6-01A-11D-A33T-08	35846324	44933129	14195854	29	14390											
FLRT3	23767	broad.mit.edu	37	chr20	14306920	14306920	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	acagacttcacagtaattgtAattgtttttcttgagggact	11	16	8	6	0	2	2	1	1	1	1	2	3	2	3	0	1	0	3	0	1	2	8			TCGA-KC-A7F6-01A-11D-A33T-08	TCGA-KC-A7F6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2de10b8-8e9d-4cf0-bc63-b624df4eca9d	6b09169a-4356-4d2b-a82b-0ac0e7bceb74	g.chr20:14306920A>G	ENST00000378053.3	-	2	1489	c.1233T>C	c.(1231-1233)atT>atC	p.I411I	FLRT3_ENST00000462077.1_5'Flank|FLRT3_ENST00000341420.4_Silent_p.I411I|MACROD2_ENST00000217246.4_Intron|MACROD2_ENST00000310348.4_Intron	NM_013281.3	NP_037413.1	Q9NZU0	FLRT3_HUMAN	fibronectin leucine rich transmembrane protein 3	411	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|intracellular signal transduction (GO:0035556)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|proteinaceous extracellular matrix (GO:0005578)	chemorepellent activity (GO:0045499)|protein binding, bridging (GO:0030674)|receptor signaling protein activity (GO:0005057)			breast(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Colorectal(1;0.0464)	COAD - Colon adenocarcinoma(2;0.129)	Colorectal(1;0.0393)		CAGTAATTGTAATTGTTTTTC	0.458																																						ENST00000378053.3																			0				breast(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						c.(1231-1233)atT>atC		fibronectin leucine rich transmembrane protein 3							162	159	160					20																	14306920		2203	4300	6503	SO:0001819	synonymous_variant	23767				cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity	g.chr20:14306920A>G	AF169677	CCDS13121.1	20p11	2013-02-11			ENSG00000125848	ENSG00000125848		"Fibronectin type III domain containing"	3762	protein-coding gene	gene with protein product		604808				10644439	Standard	NM_198391		Approved		uc002wow.2	Q9NZU0	OTTHUMG00000031914	ENST00000378053.3:c.1233T>C	20.37:g.14306920A>G						MACROD2_ENST00000217246.4_Intron|FLRT3_ENST00000341420.4_Silent_p.I411I|MACROD2_ENST00000310348.4_Intron	p.I411I	NM_013281.3	NP_037413.1	Q9NZU0	FLRT3_HUMAN	COAD - Colon adenocarcinoma(2;0.129)	Colorectal(1;0.0393)	2	1489	-		Colorectal(1;0.0464)	411			Fibronectin type-III.		D3DW20|Q542Z9|Q96K39|Q96K42|Q96KB1|Q9P259	Silent	SNP	ENST00000378053.3	37	c.1233T>C	CCDS13121.1																																																																																				0.458	FLRT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078075.1	NM_013281		50	143	0	0	0	1	0	50	143					G	14306920	A	G	14306920	2	3	301	1	0	0	0	0	0	0	0	1	5940	358	13	4		4	FLRT3	20	14306920	Silent	SNP	A	TCGA-KC-A7F6-01A-11D-A33T-08		14306920	48718600	30	14391											
PCDH11Y	83259	broad.mit.edu	37	chrY	4968185	4968185	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgttgctggcaccataactGtcgttgtagttattttcatc	7	17	8	9	1	1	0	1	0	0	0	3	0	1	0	1	1	2	6	1	1	3	7			TCGA-KC-A7F6-01A-11D-A33T-08	TCGA-KC-A7F6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2de10b8-8e9d-4cf0-bc63-b624df4eca9d	6b09169a-4356-4d2b-a82b-0ac0e7bceb74	g.chrY:4968185G>T	ENST00000333703.4	+	5	3046	c.2533G>T	c.(2533-2535)Gtc>Ttc	p.V845F	PCDH11Y_ENST00000215473.6_Missense_Mutation_p.V856F|PCDH11Y_ENST00000362095.5_Missense_Mutation_p.V856F	NM_001278619.1|NM_032971.2	NP_001265548.1|NP_116753.1	Q9BZA8	PC11Y_HUMAN	protocadherin 11 Y-linked	856					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|kidney(2)|large_intestine(7)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						CACCATAACTGTCGTTGTAGT	0.468																																						ENST00000333703.4																			0				autonomic_ganglia(1)|kidney(2)|large_intestine(7)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						c.(2533-2535)Gtc>Ttc		protocadherin 11 Y-linked																																				SO:0001583	missense	83259				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chrY:4968185G>T	AF332217	CCDS14776.1, CCDS14777.1, CCDS76066.1	Yp11.2	2010-01-26	2002-05-22	2002-05-24	ENSG00000099715	ENSG00000099715		"Cadherins / Protocadherins : Non-clustered"	15813	protein-coding gene	gene with protein product		400022	"protocadherin 22"	PCDH22		10644456, 11003707	Standard	NM_032971		Approved	PCDHY	uc004fqo.3	Q9BZA8	OTTHUMG00000035105	ENST00000333703.4:c.2533G>T	Y.37:g.4968185G>T	ENSP00000330552:p.Val845Phe					PCDH11Y_ENST00000215473.6_Missense_Mutation_p.V856F|PCDH11Y_ENST00000362095.5_Missense_Mutation_p.V856F	p.V845F	NM_001278619.1|NM_032971.2	NP_001265548.1|NP_116753.1	Q9BZA8	PC11Y_HUMAN			5	3046	+			856					Q70LR6|Q70LR8|Q70LS0|Q70LS1|Q70LS2|Q70LS3|Q70LS4|Q70LS5|Q8WY34|Q9BZA9|Q9H4E1	Missense_Mutation	SNP	ENST00000333703.4	37	c.2533G>T	CCDS14776.1																																																																																				0.468	PCDH11Y-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084979.2	NM_032973		33	8	1	0	1.22674e-20	1	1.32621e-20	33	8					T	4968185	G	T	4968185	3	4	301	1	0	0	0	0	1	0	0	0	11509	1377	48	5	2608	5	PCDH11Y	24	4968185	Missense_Mutation	SNP	G	TCGA-KC-A7F6-01A-11D-A33T-08		4968185	54405381	31	14392											
C1orf159	54991	broad.mit.edu	37	chr1	1021259	1021259	+	Splice_Site	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtgctggtccgggagataccTttgtttcttctgtagcaggc	5	14	13	9	1	2	1	0	0	2	1	3	2	3	1	2	3	3	4	2	3	2	5			TCGA-KC-A7FA-01A-21D-A33T-08	TCGA-KC-A7FA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b63f37c1-b80c-44ba-9d98-1e621ee926d9	a792ba94-7862-4a44-9d3f-fbc56914f409	g.chr1:1021259T>G	ENST00000379339.1	-	9	762	c.552A>C	c.(550-552)aaA>aaC	p.K184N	C1orf159_ENST00000448924.1_Splice_Site_p.K184N|C1orf159_ENST00000294576.5_Splice_Site_p.K148N|C1orf159_ENST00000482816.1_5'UTR|C1orf159_ENST00000421241.2_Splice_Site_p.K148N|C1orf159_ENST00000379319.1_Splice_Site_p.K148N|C1orf159_ENST00000379320.1_Splice_Site_p.K148N|C1orf159_ENST00000437760.1_Splice_Site_p.K148N			Q96HA4	CA159_HUMAN	chromosome 1 open reading frame 159	184						integral component of membrane (GO:0016021)						all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;2.96e-36)|OV - Ovarian serous cystadenocarcinoma(86;1.77e-22)|Colorectal(212;6.51e-05)|COAD - Colon adenocarcinoma(227;0.000214)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|Kidney(185;0.00254)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.037)|Lung(427;0.205)		GGGAGATACCTTTGTTTCTTC	0.612																																						ENST00000448924.1																			0											c.e8+1		chromosome 1 open reading frame 159							55	51	52					1																	1021259		2202	4300	6502	SO:0001630	splice_region_variant	54991					integral to membrane		g.chr1:1021259T>G	AK128434	CCDS7.2	1p36.33	2008-02-05			ENSG00000131591	ENSG00000131591			26062	protein-coding gene	gene with protein product						12975309	Standard	NM_017891		Approved	FLJ20584	uc001acu.2	Q96HA4	OTTHUMG00000000745	ENST00000379339.1:c.553+1A>C	1.37:g.1021259T>G						C1orf159_ENST00000379320.1_Splice_Site_p.K148_splice|C1orf159_ENST00000379319.1_Splice_Site_p.K148_splice|C1orf159_ENST00000482816.1_5'UTR|C1orf159_ENST00000294576.5_Splice_Site_p.K148_splice|C1orf159_ENST00000437760.1_Splice_Site_p.K148_splice|C1orf159_ENST00000421241.2_Splice_Site_p.K148_splice|C1orf159_ENST00000379339.1_Splice_Site_p.K184_splice	p.K184_splice			Q96HA4	CA159_HUMAN		Epithelial(90;2.96e-36)|OV - Ovarian serous cystadenocarcinoma(86;1.77e-22)|Colorectal(212;6.51e-05)|COAD - Colon adenocarcinoma(227;0.000214)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|Kidney(185;0.00254)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.037)|Lung(427;0.205)	8	983	-	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)	184					B3KQ46|Q5T2W6|Q6UX67|Q6ZR77|Q9NWV0	Splice_Site	SNP	ENST00000379339.1	37	c.553_splice		.	.	.	.	.	.	.	.	.	.	T	13.90	2.376007	0.42105	.	.	ENSG00000131591	ENST00000379339;ENST00000448924;ENST00000294576;ENST00000421241;ENST00000379320;ENST00000379319;ENST00000434641;ENST00000457999;ENST00000437760	.	.	.	4.48	4.48	0.54585	.	0.119316	0.53938	D	0.000041	T	0.64746	0.2626	L	0.50333	1.59	0.43617	D	0.99599	P;D;D;D;P	0.63046	0.904;0.979;0.992;0.979;0.944	P;P;D;P;P	0.64410	0.625;0.801;0.925;0.801;0.714	T	0.67035	-0.5772	9	0.87932	D	0	-17.7358	6.7301	0.23379	0.0:0.1074:0.0:0.8926	.	148;184;148;148;148	Q5T2W7;Q96HA4;Q96HA4-4;Q5T2W9;E9PBW5	.;CA159_HUMAN;.;.;.	N	184;184;148;148;148;148;148;159;148	.	ENSP00000294576:K148N	K	-	3	2	C1orf159	1011122	1.000000	0.71417	0.621000	0.29145	0.016000	0.09150	1.960000	0.40422	1.660000	0.50760	0.459000	0.35465	AAA		0.612	C1orf159-002	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000001851.2	NM_017891	Missense_Mutation	4	23	0	0	0	1	0	4	23					G	1021259	T	G	1021259	5	3	302	1	0	0	0	0	0	0	1	0	2008	1623	56	5	168	5	C1orf159	1	1021259	Splice_Site	SNP	T	TCGA-KC-A7FA-01A-21D-A33T-08		1021259	248229362	1	14393											
GPX7	2882	broad.mit.edu	37	chr1	53072580	53072580	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tttagcaagattgcagtcacCggtactggtgcccatcctgc	8	11	10	12	1	1	1	1	0	0	1	2	1	2	1	3	2	5	3	3	2	3	4			TCGA-KC-A7FA-01A-21D-A33T-08	TCGA-KC-A7FA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b63f37c1-b80c-44ba-9d98-1e621ee926d9	a792ba94-7862-4a44-9d3f-fbc56914f409	g.chr1:53072580C>T	ENST00000361314.4	+	2	401	c.363C>T	c.(361-363)acC>acT	p.T121T	GPX7_ENST00000459779.1_3'UTR	NM_015696.4	NP_056511.2	Q96SL4	GPX7_HUMAN	glutathione peroxidase 7	121					response to oxidative stress (GO:0006979)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	glutathione peroxidase activity (GO:0004602)|peroxidase activity (GO:0004601)			breast(1)|kidney(1)|lung(4)|upper_aerodigestive_tract(1)	7					Glutathione(DB00143)	TTGCAGTCACCGGTACTGGTG	0.567																																						ENST00000361314.4																			0				breast(1)|kidney(1)|lung(4)|upper_aerodigestive_tract(1)	7						c.(361-363)acC>acT		glutathione peroxidase 7	Glutathione(DB00143)						193	175	181					1																	53072580		2203	4300	6503	SO:0001819	synonymous_variant	2882				response to oxidative stress	extracellular region	glutathione peroxidase activity	g.chr1:53072580C>T	AF091092	CCDS569.1	1p32	2008-02-05			ENSG00000116157	ENSG00000116157			4559	protein-coding gene	gene with protein product		615784				15294905	Standard	NM_015696		Approved	FLJ14777, GPX6, NPGPx	uc001cue.3	Q96SL4	OTTHUMG00000008322	ENST00000361314.4:c.363C>T	1.37:g.53072580C>T						GPX7_ENST00000459779.1_3'UTR	p.T121T	NM_015696.4	NP_056511.2	Q96SL4	GPX7_HUMAN			2	401	+			121					O95337|Q5T501	Silent	SNP	ENST00000361314.4	37	c.363C>T	CCDS569.1																																																																																				0.567	GPX7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022913.1	NM_015696		9	120	0	0	0	1	0	9	120					T	53072580	C	T	53072580	2	4	302	1	0	0	0	0	0	0	0	1	6745	639	23	2		2	GPX7	1	53072580	Silent	SNP	C	TCGA-KC-A7FA-01A-21D-A33T-08	52051321	53072580	196178041	2	14394											
OR6K2	81448	broad.mit.edu	37	chr1	158669502	158669503	+	Frame_Shift_Ins	INS	-	-	A																															tgaggtccctggtcttacggINSaaaaaaatatcttagcttga																										TCGA-KC-A7FA-01A-21D-A33T-08	TCGA-KC-A7FA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b63f37c1-b80c-44ba-9d98-1e621ee926d9	a792ba94-7862-4a44-9d3f-fbc56914f409	g.chr1:158669502_158669503insA	ENST00000359610.2	-	1	983_984	c.940_941insT	c.(940-942)tccfs	p.S314fs		NM_001005279.1	NP_001005279.1	Q8NGY2	OR6K2_HUMAN	olfactory receptor, family 6, subfamily K, member 2	314						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	46	all_hematologic(112;0.0378)					TGGTCTTACGGAAAAAAATATC	0.371																																						ENST00000359610.2																			0				breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	46						c.(940-942)cgtfs		olfactory receptor, family 6, subfamily K, member 2																																				SO:0001589	frameshift_variant	81448				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158669502_158669503insA	BK004196	CCDS30902.1	1q23.1	2012-08-09			ENSG00000196171	ENSG00000196171		"GPCR / Class A : Olfactory receptors"	15029	protein-coding gene	gene with protein product							Standard	NM_001005279		Approved		uc001fsu.1	Q8NGY2	OTTHUMG00000022768	ENST00000359610.2:c.941dupT	1.37:g.158669509_158669509dupA	ENSP00000352626:p.Ser314fs						p.R314fs	NM_001005279.1	NP_001005279.1	Q8NGY2	OR6K2_HUMAN			1	983_984	-	all_hematologic(112;0.0378)		314					B9EH33|Q6IFR6	Frame_Shift_Ins	INS	ENST00000359610.2	37	c.940_941insT	CCDS30902.1																																																																																				0.371	OR6K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059061.1	NM_001005279		14	42						14	42	---	---	---	---	A	158669503	-	A	158669502	7	5	302	1	0	1	1	0	0	0	0	0	11202	1174	41	0	37	0	OR6K2	1	158669502	Frame_Shift_Ins	INS	-	TCGA-KC-A7FA-01A-21D-A33T-08	105596922	158669502	90581119	3	14395											
LY9	4063	broad.mit.edu	37	chr1	160771695	160771695	+	Intron	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgagccacgtgtgagcgtGcgggagggctaggccctcgc	5	6	18	12	4	0	2	0	2	0	0	1	3	0	3	2	3	3	2	2	3	1	1			TCGA-KC-A7FA-01A-21D-A33T-08	TCGA-KC-A7FA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b63f37c1-b80c-44ba-9d98-1e621ee926d9	a792ba94-7862-4a44-9d3f-fbc56914f409	g.chr1:160771695G>A	ENST00000263285.6	+	2	484				LY9_ENST00000368041.2_Intron|LY9_ENST00000471816.1_Intron|LY9_ENST00000368040.1_Intron|LY9_ENST00000341032.4_Intron|LY9_ENST00000392203.4_Intron|LY9_ENST00000368039.2_Silent_p.V190V|LY9_ENST00000368037.5_Intron			Q9HBG7	LY9_HUMAN	lymphocyte antigen 9						cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			GTGTGAGCGTGCGGGAGGGCT	0.687																																						ENST00000368039.2																			0				autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36						c.(568-570)gtG>gtA		lymphocyte antigen 9							61	62	62					1																	160771695		2203	4300	6503	SO:0001627	intron_variant	4063				cell adhesion|immunoglobulin mediated immune response	integral to membrane		g.chr1:160771695G>A	L42621	CCDS30916.1, CCDS30917.1, CCDS65695.1, CCDS65696.1	1q23.3	2013-01-11			ENSG00000122224	ENSG00000122224		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6730	protein-coding gene	gene with protein product		600684				8537117, 7797269	Standard	NM_001261457		Approved	CD229, mLY9, SLAMF3, hly9	uc001fwu.4	Q9HBG7	OTTHUMG00000024007	ENST00000263285.6:c.454+1823G>A	1.37:g.160771695G>A						LY9_ENST00000471816.1_Intron|LY9_ENST00000263285.5_Intron|LY9_ENST00000368041.2_Intron|LY9_ENST00000341032.4_Intron|LY9_ENST00000368040.1_Intron	p.V190V	NM_001033667.2	NP_001028839.1	Q9HBG7	LY9_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00737)		3	571	+	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)		0			Ig-like C2-type 1.		A8K7N3|Q14775|Q5VYI3|Q6P2J4|Q9H4N5|Q9NQ24	Silent	SNP	ENST00000263285.6	37	c.570G>A	CCDS30916.1																																																																																				0.687	LY9-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060457.3	NM_002348		10	79	0	0	0	1	0	10	79					A	160771695	G	A	160771695	1	1	302	0	1	0	0	0	0	0	0	0	9101	1306	46	3		3	LY9	1	160771695	Intron	SNP	G	TCGA-KC-A7FA-01A-21D-A33T-08	2102193	160771695	88478926	4	14396											
F13B	2165	broad.mit.edu	37	chr1	197008543	197008543	+	Splice_Site	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttcttgataagacagagtgcTtgaggggaaaaagagagatt	15	10	13	3	0	1	6	0	2	1	4	1	8	1	7	0	2	1	1	0	2	3	5			TCGA-KC-A7FA-01A-21D-A33T-08	TCGA-KC-A7FA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b63f37c1-b80c-44ba-9d98-1e621ee926d9	a792ba94-7862-4a44-9d3f-fbc56914f409	g.chr1:197008543T>A	ENST00000367412.1	-	12	1996		c.e12-2		F13B_ENST00000490002.1_5'Flank	NM_001994.2	NP_001985.2	P05160	F13B_HUMAN	coagulation factor XIII, B polypeptide						blood coagulation (GO:0007596)	extracellular region (GO:0005576)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(40)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	66						GACAGAGTGCTTGAGGGGAAA	0.303																																						ENST00000367412.1																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(40)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	66						c.e12-2		coagulation factor XIII, B polypeptide							147	167	160					1																	197008543		2203	4295	6498	SO:0001630	splice_region_variant	2165				blood coagulation	extracellular region		g.chr1:197008543T>A	M14057	CCDS1388.1	1q31-q32.1	2012-10-02			ENSG00000143278	ENSG00000143278			3534	protein-coding gene	gene with protein product		134580				2339067, 2271707	Standard	NM_001994		Approved	FXIIIB	uc001gtt.1	P05160	OTTHUMG00000036519	ENST00000367412.1:c.1953-2A>T	1.37:g.197008543T>A								NM_001994.2	NP_001985.2	P05160	F13B_HUMAN			12	1996	-								A8K3E5|Q5VYL5	Splice_Site	SNP	ENST00000367412.1	37		CCDS1388.1	.	.	.	.	.	.	.	.	.	.	T	7.092	0.572413	0.13623	.	.	ENSG00000143278	ENST00000367412	.	.	.	4.29	4.29	0.51040	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.9734	0.41768	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	F13B	195275166	0.984000	0.35163	0.508000	0.27688	0.013000	0.08279	3.276000	0.51646	1.918000	0.55548	0.383000	0.25322	.		0.303	F13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088821.2	NM_001994	Intron	4	151	0	0	0	1	0	4	151					A	197008543	T	A	197008543	5	1	302	1	0	0	0	0	0	0	1	0	5341	1623	56	5	38	5	F13B	1	197008543	Splice_Site	SNP	T	TCGA-KC-A7FA-01A-21D-A33T-08	36236848	197008543	52242078	5	14397											
SRGAP2	23380	broad.mit.edu	37	chr1	206610382	206610382	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgaatgacatcaaaaatgcCtttgagagaggtaaggaaac	17	8	11	5	0	1	4	1	3	0	1	1	6	1	5	1	2	2	1	1	2	5	2	rs537405456		TCGA-KC-A7FA-01A-21D-A33T-08	TCGA-KC-A7FA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b63f37c1-b80c-44ba-9d98-1e621ee926d9	a792ba94-7862-4a44-9d3f-fbc56914f409	g.chr1:206610382C>G	ENST00000414007.1	+	11	1203	c.1203C>G	c.(1201-1203)gcC>gcG	p.A401A	SRGAP2_ENST00000419187.2_5'UTR			O75044	SRGP2_HUMAN	SLIT-ROBO Rho GTPase activating protein 2	541	F-BAR domain.				actin filament severing (GO:0051014)|axon guidance (GO:0007411)|dendritic spine development (GO:0060996)|extension of a leading process involved in cell motility in cerebral cortex radial glia guided migration (GO:0021816)|filopodium assembly (GO:0046847)|lamellipodium assembly involved in ameboidal cell migration (GO:0003363)|negative regulation of neuron migration (GO:2001223)|neuron projection morphogenesis (GO:0048812)|positive regulation of Rac GTPase activity (GO:0032855)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|substrate adhesion-dependent cell spreading (GO:0034446)	cell junction (GO:0030054)|cytosol (GO:0005829)|dendritic spine head (GO:0044327)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	protein homodimerization activity (GO:0042803)|Rac GTPase activator activity (GO:0030675)|Rac GTPase binding (GO:0048365)			NS(1)|breast(1)|kidney(1)|lung(1)	4	Breast(84;0.137)					TCAAAAATGCCTTTGAGAGAG	0.453																																						ENST00000414007.1																			0				NS(1)|breast(1)|kidney(1)|lung(1)	4						c.(1201-1203)gcC>gcG		SLIT-ROBO Rho GTPase activating protein 2							141	139	140					1																	206610382		2037	4246	6283	SO:0001819	synonymous_variant	23380				axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding	g.chr1:206610382C>G	AB007925	CCDS73017.1	1q32.1	2014-08-13	2004-11-12	2004-11-12	ENSG00000163486	ENSG00000266028		"Rho GTPase activating proteins"	19751	protein-coding gene	gene with protein product		606524	"formin binding protein 2"	FNBP2		15046868, 11672528	Standard	XM_005277510		Approved	KIAA0456, ARHGAP34, SRGAP2A	uc001hdy.3	O75044	OTTHUMG00000184381	ENST00000414007.1:c.1203C>G	1.37:g.206610382C>G						SRGAP2_ENST00000419187.2_5'UTR	p.A401A			O75044	FNBP2_HUMAN			11	1203	+	Breast(84;0.137)		541						Silent	SNP	ENST00000414007.1	37	c.1203C>G		.	.	.	.	.	.	.	.	.	.	C	9.776	1.173940	0.21704	.	.	ENSG00000163486	ENST00000295713	.	.	.	5.78	2.84	0.33178	.	.	.	.	.	T	0.38480	0.1042	.	.	.	0.30907	N	0.729093	.	.	.	.	.	.	T	0.42916	-0.9423	3	.	.	.	.	4.5377	0.12042	0.2457:0.5032:0.0:0.2511	.	.	.	.	V	455	.	.	L	+	1	0	SRGAP2	204677005	0.883000	0.30277	1.000000	0.80357	0.973000	0.67179	0.443000	0.21644	0.341000	0.23771	-0.140000	0.14226	CTT		0.453	SRGAP2-201	KNOWN	basic	protein_coding	protein_coding		NM_015326		6	93	0	0	0	1	0	6	93					G	206610382	C	G	206610382	2	3	302	1	0	0	0	0	0	0	0	1	15145	668	24	5		5	SRGAP2	1	206610382	Silent	SNP	C	TCGA-KC-A7FA-01A-21D-A33T-08	9601839	206610382	42640239	6	14398											
CR1	1378	broad.mit.edu	37	chr1	207758094	207758094	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gaaatatcttacacatgtgaCccccacccagacagagggat	14	7	8	12	0	1	3	0	1	1	2	1	5	1	4	3	1	1	0	3	1	3	2			TCGA-KC-A7FA-01A-21D-A33T-08	TCGA-KC-A7FA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b63f37c1-b80c-44ba-9d98-1e621ee926d9	a792ba94-7862-4a44-9d3f-fbc56914f409	g.chr1:207758094C>A	ENST00000367049.4	+	33	5403	c.5403C>A	c.(5401-5403)gaC>gaA	p.D1801E	RP11-78B10.2_ENST00000596003.1_RNA|CR1_ENST00000367051.1_Missense_Mutation_p.D1351E|RP11-78B10.2_ENST00000597497.1_RNA|CR1_ENST00000400960.2_Missense_Mutation_p.D1351E|CR1_ENST00000367052.1_Missense_Mutation_p.D1351E|CR1_ENST00000367053.1_Missense_Mutation_p.D1351E	NM_000651.4	NP_000642.3	P17927	CR1_HUMAN	complement component (3b/4b) receptor 1 (Knops blood group)	1351	Sushi 28. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation, classical pathway (GO:0006958)|complement receptor mediated signaling pathway (GO:0002430)|innate immune response (GO:0045087)|negative regulation of complement activation, alternative pathway (GO:0045957)|negative regulation of complement activation, classical pathway (GO:0045959)|negative regulation of serine-type endopeptidase activity (GO:1900004)|positive regulation of serine-type endopeptidase activity (GO:1900005)|regulation of complement activation (GO:0030449)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	complement component C3b binding (GO:0001851)|complement component C3b receptor activity (GO:0004877)|complement component C4b binding (GO:0001855)|complement component C4b receptor activity (GO:0001861)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						ACACATGTGACCCCCACCCAG	0.507																																						ENST00000367049.4																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						c.(5401-5403)gaC>gaA		complement component (3b/4b) receptor 1 (Knops blood group)							121	120	120					1																	207758094		1898	4115	6013	SO:0001583	missense	1378				complement activation, classical pathway|innate immune response	integral to plasma membrane	complement receptor activity	g.chr1:207758094C>A	Y00816	CCDS44308.1, CCDS44309.1	1q32	2014-07-19	2006-01-12		ENSG00000203710	ENSG00000203710		"CD molecules", "Blood group antigens", "Complement system"	2334	protein-coding gene	gene with protein product		120620	"complement component (3b/4b) receptor 1, including Knops blood group system"			1708809	Standard	XM_005273064		Approved	CD35, KN	uc001hfx.3	P17927	OTTHUMG00000036311	ENST00000367049.4:c.5403C>A	1.37:g.207758094C>A	ENSP00000356016:p.Asp1801Glu					RP11-78B10.2_ENST00000597497.1_RNA|RP11-78B10.2_ENST00000596003.1_RNA|CR1_ENST00000400960.2_Missense_Mutation_p.D1351E|CR1_ENST00000367052.1_Missense_Mutation_p.D1351E|CR1_ENST00000367053.1_Missense_Mutation_p.D1351E|CR1_ENST00000367051.1_Missense_Mutation_p.D1351E	p.D1801E	NM_000651.4	NP_000642.3	P17927	CR1_HUMAN			33	5403	+			1351			Sushi 28.		Q16744|Q16745|Q5SR43|Q5SR45|Q9UQV2	Missense_Mutation	SNP	ENST00000367049.4	37	c.5403C>A	CCDS44308.1	.	.	.	.	.	.	.	.	.	.	C	10.19	1.281746	0.23392	.	.	ENSG00000203710	ENST00000367052;ENST00000367051;ENST00000367053;ENST00000400960;ENST00000534202;ENST00000367049	T;T;T;T;T;T	0.65916	-0.18;-0.18;-0.18;-0.18;-0.18;-0.18	3.03	3.03	0.35002	Complement control module (2);Sushi/SCR/CCP (3);	.	.	.	.	T	0.64148	0.2572	L	0.43554	1.36	0.09310	N	1	D;P;D	0.61697	0.98;0.683;0.99	P;P;D	0.68353	0.815;0.516;0.957	T	0.54057	-0.8350	9	0.02654	T	1	.	9.8099	0.40817	0.0:1.0:0.0:0.0	.	1351;1351;1801	Q5SR44;P17927;E9PDY4	.;CR1_HUMAN;.	E	1351;1351;1351;1351;901;1801	ENSP00000356019:D1351E;ENSP00000356018:D1351E;ENSP00000356020:D1351E;ENSP00000383744:D1351E;ENSP00000436139:D901E;ENSP00000356016:D1801E	ENSP00000356016:D1801E	D	+	3	2	CR1	205824717	0.249000	0.23941	0.017000	0.16124	0.755000	0.42902	0.487000	0.22356	1.982000	0.57802	0.655000	0.94253	GAC		0.507	CR1-012	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382527.1	NM_000573		40	58	1	0	2.05212e-20	1	2.17649e-20	40	58					A	207758094	C	A	207758094	3	1	302	1	0	0	0	0	1	0	0	0	3840	506	18	5	5533	5	CR1	1	207758094	Missense_Mutation	SNP	C	TCGA-KC-A7FA-01A-21D-A33T-08	1147712	207758094	41492527	7	14399											
RYR2	6262	broad.mit.edu	37	chr1	237787069	237787069	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tttttcaaactttcagatcaAtatgcttctcaattttaagg	12	18	4	7	0	4	1	4	0	1	1	5	1	4	1	0	1	2	1	0	1	5	7			TCGA-KC-A7FA-01A-21D-A33T-08	TCGA-KC-A7FA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b63f37c1-b80c-44ba-9d98-1e621ee926d9	a792ba94-7862-4a44-9d3f-fbc56914f409	g.chr1:237787069A>G	ENST00000366574.2	+	39	6238	c.5921A>G	c.(5920-5922)aAt>aGt	p.N1974S	RYR2_ENST00000360064.6_Missense_Mutation_p.N1972S|RYR2_ENST00000542537.1_Missense_Mutation_p.N1958S	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1974	4 X approximate repeats.				BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TTTCAGATCAATATGCTTCTC	0.408																																						ENST00000366574.2																			0				NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586						c.(5920-5922)aAt>aGt		ryanodine receptor 2 (cardiac)							76	73	74					1																	237787069		1842	4097	5939	SO:0001583	missense	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237787069A>G	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"Ion channels / Ryanodine receptors", "EF-hand domain containing"	10484	protein-coding gene	gene with protein product		180902	"arrhythmogenic right ventricular dysplasia 2"	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.5921A>G	1.37:g.237787069A>G	ENSP00000355533:p.Asn1974Ser					RYR2_ENST00000542537.1_Missense_Mutation_p.N1958S|RYR2_ENST00000360064.6_Missense_Mutation_p.N1972S	p.N1974S	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		39	6238	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	1974			4 X approximate repeats.		Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	c.5921A>G	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	A	16.85	3.235589	0.58886	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	T;T;T	0.72615	-0.67;-0.67;-0.67	5.34	5.34	0.76211	.	0.169902	0.36444	N	0.002581	T	0.67720	0.2923	M	0.67700	2.07	0.80722	D	1	P	0.36495	0.556	B	0.31191	0.125	T	0.72023	-0.4415	10	0.56958	D	0.05	.	15.6508	0.77091	1.0:0.0:0.0:0.0	.	1974	Q92736	RYR2_HUMAN	S	1974;1972;1958	ENSP00000355533:N1974S;ENSP00000353174:N1972S;ENSP00000443798:N1958S	ENSP00000353174:N1972S	N	+	2	0	RYR2	235853692	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.008000	0.93601	2.148000	0.66965	0.529000	0.55759	AAT		0.408	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		11	12	0	0	0	1	0	11	12					G	237787069	A	G	237787069	3	3	302	1	0	0	0	0	1	0	0	0	13769	101	4	4	6075	4	RYR2	1	237787069	Missense_Mutation	SNP	A	TCGA-KC-A7FA-01A-21D-A33T-08	30028975	237787069	11463552	8	14400											
EPT1	85465	broad.mit.edu	37	chr2	26609300	26609300	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggttcctctcttcttggttGtcttagtggtaaacctagga	6	17	10	8	0	3	0	0	0	3	0	5	1	4	1	2	4	1	3	2	4	4	7			TCGA-KC-A7FA-01A-21D-A33T-08	TCGA-KC-A7FA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b63f37c1-b80c-44ba-9d98-1e621ee926d9	a792ba94-7862-4a44-9d3f-fbc56914f409	g.chr2:26609300G>A	ENST00000260585.7	+	9	1110	c.991G>A	c.(991-993)Gtc>Atc	p.V331I		NM_033505.2	NP_277040.1	Q9C0D9	EPT1_HUMAN	ethanolaminephosphotransferase 1 (CDP-ethanolamine-specific)	331					glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	ethanolaminephosphotransferase activity (GO:0004307)|metal ion binding (GO:0046872)										CTTCTTGGTTGTCTTAGTGGT	0.423																																						ENST00000260585.7																			0											c.(991-993)Gtc>Atc		ethanolaminephosphotransferase 1 (CDP-ethanolamine-specific)							165	158	160					2																	26609300		1870	4096	5966	SO:0001583	missense	85465				phospholipid biosynthetic process	integral to membrane	ethanolaminephosphotransferase activity|metal ion binding	g.chr2:26609300G>A		CCDS46240.1	2p23.3	2012-03-01			ENSG00000138018	ENSG00000138018	2.7.8.1		29361	protein-coding gene	gene with protein product	"selenoprotein I"	607915				11214970, 17132865	Standard	NM_033505		Approved	KIAA1724, SELI, SEPI	uc021veu.1	Q9C0D9	OTTHUMG00000151931	ENST00000260585.7:c.991G>A	2.37:g.26609300G>A	ENSP00000260585:p.Val331Ile						p.V331I	NM_033505.2	NP_277040.1	Q9C0D9	EPT1_HUMAN			9	1110	+			331					Q63ZE3	Missense_Mutation	SNP	ENST00000260585.7	37	c.991G>A	CCDS46240.1	.	.	.	.	.	.	.	.	.	.	G	16.14	3.038569	0.55003	.	.	ENSG00000138018	ENST00000260585	T	0.46451	0.87	6.06	5.18	0.71444	.	0.216369	0.39834	N	0.001253	T	0.33059	0.0850	L	0.48877	1.53	0.41655	D	0.989158	B	0.26120	0.142	B	0.26693	0.072	T	0.10941	-1.0608	10	0.26408	T	0.33	-12.7115	7.9021	0.29740	0.0826:0.1626:0.7548:0.0	.	331	Q9C0D9	EPT1_HUMAN	I	331	ENSP00000260585:V331I	ENSP00000260585:V331I	V	+	1	0	EPT1	26462804	1.000000	0.71417	0.998000	0.56505	0.660000	0.38997	2.098000	0.41757	2.882000	0.98803	0.655000	0.94253	GTC		0.423	EPT1-001	KNOWN	basic|appris_principal|CCDS|seleno	protein_coding	protein_coding	OTTHUMT00000324484.3	NM_033505.2		22	44	0	0	0	1	0	22	44					A	26609300	G	A	26609300	3	1	302	1	0	0	0	0	1	0	0	0	5199	1377	48	3	1025	3	EPT1	2	26609300	Missense_Mutation	SNP	G	TCGA-KC-A7FA-01A-21D-A33T-08		26609300	216590073	9	14401											
RAB6C	84084	broad.mit.edu	37	chr2	130738003	130738003	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aactcattccagcaaactacAaagtggattgatgatgtcag	15	10	8	8	0	2	2	2	2	0	0	3	3	3	3	1	1	4	1	1	1	4	3	rs371407777		TCGA-KC-A7FA-01A-21D-A33T-08	TCGA-KC-A7FA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b63f37c1-b80c-44ba-9d98-1e621ee926d9	a792ba94-7862-4a44-9d3f-fbc56914f409	g.chr2:130738003A>G	ENST00000410061.2	+	1	769	c.315A>G	c.(313-315)acA>acG	p.T105T	AC079776.7_ENST00000412425.1_RNA	NM_032144.2	NP_115520.2	Q9H0N0	RAB6C_HUMAN	RAB6C, member RAS oncogene family	105	Required for centrosome localization.				cell cycle process (GO:0022402)|GTP catabolic process (GO:0006184)|protein transport (GO:0015031)|regulation of centrosome duplication (GO:0010824)|response to drug (GO:0042493)|small GTPase mediated signal transduction (GO:0007264)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			large_intestine(2)|lung(1)|skin(1)|urinary_tract(1)	5	Colorectal(110;0.1)					AGCAAACTACAAAGTGGATTG	0.428																																						ENST00000410061.2																			0				large_intestine(2)|lung(1)|skin(1)|urinary_tract(1)	5						c.(313-315)acA>acG		RAB6C, member RAS oncogene family		A		2,4404		0,2,2201	142	154	150		315		0	2		150	0,8594		0,0,4297	no	coding-synonymous	RAB6C	NM_032144.2		0,2,6498	GG,GA,AA		0.0,0.0454,0.0154		105/255	130738003	2,12998	2203	4297	6500	SO:0001819	synonymous_variant	84084				protein transport|response to drug|small GTPase mediated signal transduction		GTP binding|GTPase activity	g.chr2:130738003A>G	AF124200	CCDS46408.1	2q21.1	2012-07-02			ENSG00000222014	ENSG00000222014		"RAB, member RAS oncogene"	16525	protein-coding gene	gene with protein product		612909				11054569, 17426708	Standard	NM_032144		Approved	WTH3	uc002tpx.1	Q9H0N0	OTTHUMG00000153487	ENST00000410061.2:c.315A>G	2.37:g.130738003A>G						AC079776.7_ENST00000412425.1_RNA	p.T105T	NM_032144.2	NP_115520.2	Q9H0N0	RAB6C_HUMAN			1	769	+	Colorectal(110;0.1)		105					Q53RU3|Q6FIF7|Q9P128	Silent	SNP	ENST00000410061.2	37	c.315A>G	CCDS46408.1																																																																																				0.428	RAB6C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331384.1	NM_032144		6	121	0	0	0	1	0	6	121					G	130738003	A	G	130738003	2	3	302	1	0	0	0	0	0	0	0	1	12953	117	5	4		4	RAB6C	2	130738003	Silent	SNP	A	TCGA-KC-A7FA-01A-21D-A33T-08	104128703	130738003	112461370	10	14402											
ITGB6	3694	broad.mit.edu	37	chr2	161030498	161030498	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agcataccttacacacagcaGcttgcataattgcatcaaat	15	10	5	11	0	1	0	1	0	0	0	1	0	1	0	1	0	7	5	1	0	4	5			TCGA-KC-A7FA-01A-21D-A33T-08	TCGA-KC-A7FA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b63f37c1-b80c-44ba-9d98-1e621ee926d9	a792ba94-7862-4a44-9d3f-fbc56914f409	g.chr2:161030498G>A	ENST00000283249.2	-	5	983	c.746C>T	c.(745-747)gCt>gTt	p.A249V	ITGB6_ENST00000428609.2_Missense_Mutation_p.A207V|ITGB6_ENST00000485635.1_5'UTR|ITGB6_ENST00000409872.1_Missense_Mutation_p.A249V|ITGB6_ENST00000409967.2_Missense_Mutation_p.A249V	NM_001282353.1|NM_001282354.1|NM_001282388.1	NP_001269282.1|NP_001269283.1|NP_001269317.1	P18564	ITB6_HUMAN	integrin, beta 6	249	VWFA.				cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)|inflammatory response (GO:0006954)|integrin-mediated signaling pathway (GO:0007229)|multicellular organismal development (GO:0007275)|viral process (GO:0016032)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	virus receptor activity (GO:0001618)			breast(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	23						ACACACAGCAGCTTGCATAAT	0.333																																						ENST00000283249.2																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	23						c.(745-747)gCt>gTt		integrin, beta 6							108	107	107					2																	161030498		2203	4300	6503	SO:0001583	missense	3694				cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|multicellular organismal development	integrin complex	receptor activity	g.chr2:161030498G>A		CCDS2212.1, CCDS63040.1, CCDS74596.1, CCDS74597.1	2q24.2	2010-03-23			ENSG00000115221	ENSG00000115221		"Integrins"	6161	protein-coding gene	gene with protein product		147558				1729173, 8120056	Standard	NM_001282353		Approved		uc002ubh.2	P18564	OTTHUMG00000132026	ENST00000283249.2:c.746C>T	2.37:g.161030498G>A	ENSP00000283249:p.Ala249Val					ITGB6_ENST00000409872.1_Missense_Mutation_p.A249V|ITGB6_ENST00000485635.1_5'UTR|ITGB6_ENST00000428609.2_Missense_Mutation_p.A207V|ITGB6_ENST00000409967.2_Missense_Mutation_p.A249V	p.A249V			P18564	ITB6_HUMAN			5	983	-			249			VWFA.		B2R9W5|C9JA97|Q0VA95|Q16500|Q53RG5|Q53RR6	Missense_Mutation	SNP	ENST00000283249.2	37	c.746C>T	CCDS2212.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.180179	0.78564	.	.	ENSG00000115221	ENST00000283249;ENST00000428609;ENST00000409967;ENST00000409872	D;D;D;D	0.92446	-3.04;-3.04;-3.04;-3.04	5.09	5.09	0.68999	Integrin beta subunit, N-terminal (2);von Willebrand factor, type A (1);	0.000000	0.85682	D	0.000000	D	0.94049	0.8093	L	0.43646	1.37	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.91849	0.5490	10	0.21540	T	0.41	.	18.843	0.92192	0.0:0.0:1.0:0.0	.	207;249	E9PEE8;P18564	.;ITB6_HUMAN	V	249;207;249;249	ENSP00000283249:A249V;ENSP00000408024:A207V;ENSP00000386828:A249V;ENSP00000386367:A249V	ENSP00000283249:A249V	A	-	2	0	ITGB6	160738744	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.528000	0.81941	2.536000	0.85505	0.491000	0.48974	GCT		0.333	ITGB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255036.1	NM_000888		8	50	0	0	0	1	0	8	50					A	161030498	G	A	161030498	3	1	302	1	0	0	0	0	1	0	0	0	7899	971	34	3	1664	3	ITGB6	2	161030498	Missense_Mutation	SNP	G	TCGA-KC-A7FA-01A-21D-A33T-08	30292495	161030498	82168875	11	14403											
CPS1	1373	broad.mit.edu	37	chr2	211476889	211476889	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agagtttccagaaagctttaCggatgtgccacccatctata	12	11	8	10	1	1	2	0	0	1	2	2	3	2	3	3	1	3	2	3	1	4	5			TCGA-KC-A7FA-01A-21D-A33T-08	TCGA-KC-A7FA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b63f37c1-b80c-44ba-9d98-1e621ee926d9	a792ba94-7862-4a44-9d3f-fbc56914f409	g.chr2:211476889C>T	ENST00000233072.5	+	20	2636	c.2440C>T	c.(2440-2442)Cgg>Tgg	p.R814W	CPS1_ENST00000451903.2_Missense_Mutation_p.R363W|CPS1_ENST00000430249.2_Missense_Mutation_p.R820W	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN	carbamoyl-phosphate synthase 1, mitochondrial	814			R -> W (in CPS1D). {ECO:0000269|PubMed:21120950}.		anion homeostasis (GO:0055081)|carbamoyl phosphate biosynthetic process (GO:0070409)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to cAMP (GO:0071320)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to glucagon stimulus (GO:0071377)|cellular response to oleic acid (GO:0071400)|citrulline biosynthetic process (GO:0019240)|glutamine catabolic process (GO:0006543)|glycogen catabolic process (GO:0005980)|hepatocyte differentiation (GO:0070365)|homocysteine metabolic process (GO:0050667)|midgut development (GO:0007494)|nitric oxide metabolic process (GO:0046209)|positive regulation of vasodilation (GO:0045909)|response to amine (GO:0014075)|response to amino acid (GO:0043200)|response to dexamethasone (GO:0071548)|response to drug (GO:0042493)|response to food (GO:0032094)|response to growth hormone (GO:0060416)|response to lipopolysaccharide (GO:0032496)|response to starvation (GO:0042594)|response to toxic substance (GO:0009636)|response to zinc ion (GO:0010043)|small molecule metabolic process (GO:0044281)|triglyceride catabolic process (GO:0019433)|urea cycle (GO:0000050)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|carbamoyl-phosphate synthase (ammonia) activity (GO:0004087)|endopeptidase activity (GO:0004175)|glutamate binding (GO:0016595)|modified amino acid binding (GO:0072341)|phospholipid binding (GO:0005543)			breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)	Carglumic Acid(DB06775)	GAAAGCTTTACGGATGTGCCA	0.398																																						ENST00000233072.5																			0				breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142						c.(2440-2442)Cgg>Tgg		carbamoyl-phosphate synthase 1, mitochondrial							147	147	147					2																	211476889		2203	4300	6503	SO:0001583	missense	1373				carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity	g.chr2:211476889C>T	AF154830	CCDS2393.1, CCDS46505.1, CCDS46506.1	2p	2014-09-17	2010-05-11		ENSG00000021826	ENSG00000021826	6.3.4.16		2323	protein-coding gene	gene with protein product		608307	"carbamoyl-phosphate synthetase 1, mitochondrial"				Standard	NM_001122633		Approved		uc002vee.4	P31327	OTTHUMG00000132994	ENST00000233072.5:c.2440C>T	2.37:g.211476889C>T	ENSP00000233072:p.Arg814Trp					CPS1_ENST00000430249.2_Missense_Mutation_p.R820W|CPS1_ENST00000451903.2_Missense_Mutation_p.R363W	p.R814W	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN		Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)	20	2636	+			814					B7Z818|J3KQL0|O43774|Q53TL5|Q59HF8|Q7Z5I5	Missense_Mutation	SNP	ENST00000233072.5	37	c.2440C>T	CCDS2393.1	.	.	.	.	.	.	.	.	.	.	C	19.27	3.795719	0.70452	.	.	ENSG00000021826	ENST00000430249;ENST00000539150;ENST00000233072;ENST00000451903	D;D;D	0.98207	-4.79;-4.79;-4.79	5.25	0.298	0.15766	Carbamoyl-phosphate synthetase, large subunit, oligomerisation (2);	0.000000	0.85682	D	0.000000	D	0.99248	0.9738	H	0.97707	4.06	0.49213	D	0.99976	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.99837	1.1058	10	0.87932	D	0	.	14.9661	0.71196	0.7762:0.2238:0.0:0.0	.	824;814	Q59HF8;P31327	.;CPSM_HUMAN	W	820;822;814;363	ENSP00000402608:R820W;ENSP00000233072:R814W;ENSP00000406136:R363W	ENSP00000233072:R814W	R	+	1	2	CPS1	211185134	1.000000	0.71417	0.700000	0.30305	0.981000	0.71138	0.911000	0.28584	0.233000	0.21120	0.557000	0.71058	CGG		0.398	CPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256569.5			11	113	0	0	0	1	0	11	113					T	211476889	C	T	211476889	3	4	302	1	0	0	0	0	1	0	0	0	3823	527	19	1	2540	1	CPS1	2	211476889	Missense_Mutation	SNP	C	TCGA-KC-A7FA-01A-21D-A33T-08	50446391	211476889	31722484	12	14404											
ANKRD28	23243	broad.mit.edu	37	chr3	15731729	15731729	+	Splice_Site	DEL	T	T	-																															gatggtgaccatgataggccTagaaataaataaaaatgtaa																										TCGA-KC-A7FA-01A-21D-A33T-08	TCGA-KC-A7FA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b63f37c1-b80c-44ba-9d98-1e621ee926d9	a792ba94-7862-4a44-9d3f-fbc56914f409	g.chr3:15731729delT	ENST00000399451.2	-	18	2039		c.e18-2		ANKRD28_ENST00000497037.1_Splice_Site|ANKRD28_ENST00000383777.1_Splice_Site	NM_001195098.1|NM_001195099.1|NM_015199.3	NP_001182027.1|NP_001182028.1|NP_056014.2	O15084	ANR28_HUMAN	ankyrin repeat domain 28							nucleus (GO:0005634)				breast(2)|endometrium(1)|large_intestine(2)|prostate(1)	6						ATGATAGGCCTAGAAATAAAT	0.313																																						ENST00000399451.2																			0				breast(2)|endometrium(1)|large_intestine(2)|prostate(1)	6						c.e18-2		ankyrin repeat domain 28							49	42	44					3																	15731729		1823	4081	5904	SO:0001630	splice_region_variant	23243					nucleoplasm	protein binding	g.chr3:15731729delT	AY367056	CCDS46769.1, CCDS74908.1	3p25.1	2013-01-10			ENSG00000206560	ENSG00000206560		"Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits", "Ankyrin repeat domain containing"	29024	protein-coding gene	gene with protein product	"phosphatase interactor targeting K protein", "protein phosphatase 6 ankyrin repeat subunit A", "protein phosphatase 1, regulatory subunit 65"	611122				9205841	Standard	NM_015199		Approved	KIAA0379, PITK, PP6-ARS-A, PPP1R65	uc003caj.1	O15084	OTTHUMG00000155379	ENST00000399451.2:c.1672-2A>-	3.37:g.15731729delT						ANKRD28_ENST00000497037.1_Splice_Site|ANKRD28_ENST00000383777.1_Splice_Site		NM_001195098.1|NM_001195099.1|NM_015199.3	NP_001182027.1|NP_001182028.1|NP_056014.2	O15084	ANR28_HUMAN			18	2039	-								B4DES5|Q1WWL4|Q29RW6|Q3B857|Q6ULS0|Q6ZT57	Splice_Site	DEL	ENST00000399451.2	37		CCDS46769.1																																																																																				0.313	ANKRD28-003	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000339758.1	NM_015199	Intron	2	4						2	4	---	---	---	---	-	15731729	T	-	15731729	8	5	302	1	0	1	0	1	0	0	1	0	656	1536	53	0	1535	0	ANKRD28	3	15731729	Splice_Site	DEL	T	TCGA-KC-A7FA-01A-21D-A33T-08		15731729	182290701	13	14405											
ZNF445	353274	broad.mit.edu	37	chr3	44488286	44488286	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtgagcctggagctctggctGcaagcttctttgcagtcttc	5	13	12	11	0	3	1	0	1	3	0	4	2	3	2	1	2	5	5	1	2	1	3			TCGA-KC-A7FA-01A-21D-A33T-08	TCGA-KC-A7FA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b63f37c1-b80c-44ba-9d98-1e621ee926d9	a792ba94-7862-4a44-9d3f-fbc56914f409	g.chr3:44488286G>A	ENST00000396077.2	-	8	3224	c.2877C>T	c.(2875-2877)tgC>tgT	p.C959C	ZNF445_ENST00000425708.2_Silent_p.C959C	NM_181489.5	NP_852466.1	P59923	ZN445_HUMAN	zinc finger protein 445	959					transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|skin(3)	31				KIRC - Kidney renal clear cell carcinoma(197;0.0514)|Kidney(197;0.0646)		AGCTCTGGCTGCAAGCTTCTT	0.483																																						ENST00000425708.2																			0				breast(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|skin(3)	31						c.(2875-2877)tgC>tgT		zinc finger protein 445							127	125	126					3																	44488286		2203	4300	6503	SO:0001819	synonymous_variant	353274				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr3:44488286G>A	AY262260	CCDS2713.1	3p21.32	2013-01-09	2003-10-07		ENSG00000185219	ENSG00000185219		"Zinc fingers, C2H2-type", "-", "-", "-"	21018	protein-coding gene	gene with protein product			"zinc finger protein 168"	ZNF168		7814019	Standard	NM_181489		Approved	ZKSCAN15, ZSCAN47	uc003cnf.2	P59923	OTTHUMG00000133042	ENST00000396077.2:c.2877C>T	3.37:g.44488286G>A						ZNF445_ENST00000396077.2_Silent_p.C959C	p.C959C			P59923	ZN445_HUMAN		KIRC - Kidney renal clear cell carcinoma(197;0.0514)|Kidney(197;0.0646)	7	3218	-			959					Q3MJD1	Silent	SNP	ENST00000396077.2	37	c.2877C>T	CCDS2713.1																																																																																				0.483	ZNF445-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256647.2	NM_181489		4	98	0	0	0	1	0	4	98					A	44488286	G	A	44488286	2	1	302	1	0	0	0	0	0	0	0	1	17915	1311	46	3		3	ZNF445	3	44488286	Silent	SNP	G	TCGA-KC-A7FA-01A-21D-A33T-08	28756557	44488286	153534144	14	14406											
ADAMTS9	56999	broad.mit.edu	37	chr3	64526848	64526848	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggccgtgtaatccttccgaCattggcagtcatcgcgccgg	6	9	12	14	6	1	0	1	0	0	0	4	1	3	0	4	3	0	2	4	3	1	3			TCGA-KC-A7FA-01A-21D-A33T-08	TCGA-KC-A7FA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b63f37c1-b80c-44ba-9d98-1e621ee926d9	a792ba94-7862-4a44-9d3f-fbc56914f409	g.chr3:64526848C>A	ENST00000498707.1	-	36	5786	c.5444G>T	c.(5443-5445)tGt>tTt	p.C1815F	ADAMTS9_ENST00000295903.4_Missense_Mutation_p.C1787F	NM_182920.1	NP_891550.1	Q9P2N4	ATS9_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 9	1815	GON. {ECO:0000255|PROSITE- ProRule:PRU00383}.				glycoprotein catabolic process (GO:0006516)|multicellular organismal development (GO:0007275)|positive regulation of melanocyte differentiation (GO:0045636)|protein transport (GO:0015031)|proteolysis (GO:0006508)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	100		Lung NSC(201;0.00682)		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)		ATCCTTCCGACATTGGCAGTC	0.453																																						ENST00000498707.1																			0				breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	100						c.(5443-5445)tGt>tTt		ADAM metallopeptidase with thrombospondin type 1 motif, 9							85	85	85					3																	64526848		2203	4300	6503	SO:0001583	missense	56999				glycoprotein catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr3:64526848C>A	AF261918	CCDS2903.1	3p14.1	2008-05-15	2005-08-19		ENSG00000163638	ENSG00000163638		"ADAM metallopeptidases with thrombospondin type 1 motif"	13202	protein-coding gene	gene with protein product		605421	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 9"			10936055	Standard	NM_182920		Approved	KIAA1312	uc003dmg.3	Q9P2N4	OTTHUMG00000158722	ENST00000498707.1:c.5444G>T	3.37:g.64526848C>A	ENSP00000418735:p.Cys1815Phe					ADAMTS9_ENST00000295903.4_Missense_Mutation_p.C1787F	p.C1815F	NM_182920.1	NP_891550.1	Q9P2N4	ATS9_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)	36	5786	-		Lung NSC(201;0.00682)	1815			GON.		A1L4L0|B7ZVX9|B9ZVN0|Q9NR29	Missense_Mutation	SNP	ENST00000498707.1	37	c.5444G>T	CCDS2903.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	22.5|22.5	4.300145|4.300145	0.81136|0.81136	.|.	.|.	ENSG00000163638|ENSG00000163638	ENST00000295903;ENST00000498707|ENST00000481060	T;T|.	0.18810|.	2.19;2.19|.	5.73|5.73	5.73|5.73	0.89815|0.89815	Peptidase M12B, GON-ADAMTSs (2);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.83557|0.83557	0.5280|0.5280	M|M	0.85462|0.85462	2.755|2.755	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.97110|.	1.0;1.0|.	D|D	0.84407|0.84407	0.0563|0.0563	10|5	0.87932|.	D|.	0|.	.|.	19.9036|19.9036	0.96999|0.96999	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	1787;1815|.	B7ZVX9;Q9P2N4|.	.;ATS9_HUMAN|.	F|F	1787;1815|871	ENSP00000295903:C1787F;ENSP00000418735:C1815F|.	ENSP00000295903:C1787F|.	C|V	-|-	2|1	0|0	ADAMTS9|ADAMTS9	64501888|64501888	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.819000|0.819000	0.46315|0.46315	7.076000|7.076000	0.76806|0.76806	2.706000|2.706000	0.92434|0.92434	0.655000|0.655000	0.94253|0.94253	TGT|GTC		0.453	ADAMTS9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351891.1			36	47	1	0	2.91434e-09	1	3.00005e-09	36	47					A	64526848	C	A	64526848	3	1	302	1	0	0	0	0	1	0	0	0	273	478	17	5	379	5	ADAMTS9	3	64526848	Missense_Mutation	SNP	C	TCGA-KC-A7FA-01A-21D-A33T-08	20038562	64526848	133495582	15	14407											
LRIG1	26018	broad.mit.edu	37	chr3	66502033	66502033	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgcccagggatggtaccgcTgtcaactcattattattgag	9	11	11	10	2	2	1	2	1	0	0	2	2	2	2	2	2	2	2	2	2	4	4			TCGA-KC-A7FA-01A-21D-A33T-08	TCGA-KC-A7FA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b63f37c1-b80c-44ba-9d98-1e621ee926d9	a792ba94-7862-4a44-9d3f-fbc56914f409	g.chr3:66502033T>C	ENST00000273261.3	-	3	839	c.315A>G	c.(313-315)acA>acG	p.T105T	LRIG1_ENST00000383703.3_Silent_p.T105T	NM_015541.2	NP_056356.2	Q96JA1	LRIG1_HUMAN	leucine-rich repeats and immunoglobulin-like domains 1	105					innervation (GO:0060384)|otolith morphogenesis (GO:0032474)|sensory perception of sound (GO:0007605)	integral component of membrane (GO:0016021)				NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(4)|stomach(4)|urinary_tract(1)	42		Lung NSC(201;0.0101)		BRCA - Breast invasive adenocarcinoma(55;0.00047)		ATGGTACCGCTGTCAACTCAT	0.443																																						ENST00000383703.3																			0				NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(4)|stomach(4)|urinary_tract(1)	42						c.(313-315)acA>acG		leucine-rich repeats and immunoglobulin-like domains 1							182	160	168					3																	66502033		2203	4300	6503	SO:0001819	synonymous_variant	26018					integral to membrane		g.chr3:66502033T>C	AB050468	CCDS33783.1	3p14	2013-01-14			ENSG00000144749	ENSG00000144749		"Immunoglobulin superfamily / I-set domain containing"	17360	protein-coding gene	gene with protein product	"ortholog of mouse integral membrane glycoprotein LIG-1", "leucine-rich repeat protein LRIG1"	608868				11414704, 12234026	Standard	NM_015541		Approved	LIG-1, DKFZP586O1624, LIG1	uc003dmx.3	Q96JA1	OTTHUMG00000158727	ENST00000273261.3:c.315A>G	3.37:g.66502033T>C						LRIG1_ENST00000273261.3_Silent_p.T105T	p.T105T			Q96JA1	LRIG1_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.00047)	3	918	-		Lung NSC(201;0.0101)	105					Q6IQ51|Q96CF9|Q9BYB8|Q9UFI4	Silent	SNP	ENST00000273261.3	37	c.315A>G	CCDS33783.1																																																																																				0.443	LRIG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351930.1	NM_015541		41	50	0	0	0	1	0	41	50					C	66502033	T	C	66502033	2	2	302	1	0	0	0	0	0	0	0	1	8944	1567	55	4		4	LRIG1	3	66502033	Silent	SNP	T	TCGA-KC-A7FA-01A-21D-A33T-08	1975185	66502033	131520397	16	14408											
MAP3K13	9175	broad.mit.edu	37	chr3	185146622	185146622	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	accagtttgagaacagcgttCttcagctaagggaacacgat	13	9	10	9	2	2	1	1	1	1	1	2	4	2	2	1	1	4	3	1	1	3	4			TCGA-KC-A7FA-01A-21D-A33T-08	TCGA-KC-A7FA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b63f37c1-b80c-44ba-9d98-1e621ee926d9	a792ba94-7862-4a44-9d3f-fbc56914f409	g.chr3:185146622C>T	ENST00000265026.3	+	2	587	c.253C>T	c.(253-255)Ctt>Ttt	p.L85F	MAP3K13_ENST00000535426.1_Intron|MAP3K13_ENST00000446828.1_Intron|MAP3K13_ENST00000424227.1_Missense_Mutation_p.L85F|MAP3K13_ENST00000443863.1_Intron	NM_004721.4	NP_004712.1			mitogen-activated protein kinase kinase kinase 13											NS(1)|biliary_tract(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(13)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54	all_cancers(143;7.21e-11)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)			GAACAGCGTTCTTCAGCTAAG	0.532																																						ENST00000265026.3																			0				NS(1)|biliary_tract(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(13)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54						c.(253-255)Ctt>Ttt		mitogen-activated protein kinase kinase kinase 13							105	80	88					3																	185146622		2203	4300	6503	SO:0001583	missense	9175				activation of MAPKK activity|JNK cascade|positive regulation of NF-kappaB transcription factor activity|protein autophosphorylation	cytoplasm|membrane|membrane fraction	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding	g.chr3:185146622C>T	BC031677	CCDS3270.1, CCDS56298.1	3q27	2011-06-09			ENSG00000073803	ENSG00000073803		"Mitogen-activated protein kinase cascade / Kinase kinase kinases"	6852	protein-coding gene	gene with protein product	"leucine zipper-bearing kinase"	604915				9353328	Standard	NM_004721		Approved	LZK, MEKK13	uc003fpi.3	O43283	OTTHUMG00000156673	ENST00000265026.3:c.253C>T	3.37:g.185146622C>T	ENSP00000265026:p.Leu85Phe					MAP3K13_ENST00000446828.1_Intron|MAP3K13_ENST00000443863.1_Intron|MAP3K13_ENST00000424227.1_Missense_Mutation_p.L85F|MAP3K13_ENST00000535426.1_Intron	p.L85F	NM_004721.4	NP_004712.1	O43283	M3K13_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)		2	587	+	all_cancers(143;7.21e-11)|Ovarian(172;0.0339)		85						Missense_Mutation	SNP	ENST00000265026.3	37	c.253C>T	CCDS3270.1	.	.	.	.	.	.	.	.	.	.	C	22.2	4.252721	0.80135	.	.	ENSG00000073803	ENST00000447637;ENST00000424227;ENST00000428617;ENST00000265026	T;D;T;D	0.82711	-0.14;-1.64;-0.49;-1.64	5.61	4.55	0.56014	.	0.084186	0.48286	D	0.000192	T	0.80954	0.4723	N	0.08118	0	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.78795	-0.2064	10	0.21540	T	0.41	.	15.3983	0.74816	0.0:0.9222:0.0:0.0778	.	85	O43283	M3K13_HUMAN	F	85	ENSP00000389495:L85F;ENSP00000399910:L85F;ENSP00000405163:L85F;ENSP00000265026:L85F	ENSP00000265026:L85F	L	+	1	0	MAP3K13	186629316	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.034000	0.49751	2.640000	0.89533	0.655000	0.94253	CTT		0.532	MAP3K13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345268.1	NM_004721		15	22	0	0	0	1	0	15	22					T	185146622	C	T	185146622	3	4	302	1	0	0	0	0	1	0	0	0	9247	913	32	3	255	3	MAP3K13	3	185146622	Missense_Mutation	SNP	C	TCGA-KC-A7FA-01A-21D-A33T-08	118644589	185146622	12875808	17	14409											
SFRP2	6423	broad.mit.edu	37	chr4	154709764	154709764	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgggatccaagcgccggccTgctccagcacctccttcatg	6	7	11	17	3	1	0	1	0	0	0	4	1	4	1	6	2	3	2	6	2	1	1			TCGA-KC-A7FA-01A-21D-A33T-08	TCGA-KC-A7FA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b63f37c1-b80c-44ba-9d98-1e621ee926d9	a792ba94-7862-4a44-9d3f-fbc56914f409	g.chr4:154709764T>C	ENST00000274063.4	-	1	508	c.224A>G	c.(223-225)cAg>cGg	p.Q75R		NM_003013.2	NP_003004.1	Q96HF1	SFRP2_HUMAN	secreted frizzled-related protein 2	75	FZ. {ECO:0000255|PROSITE- ProRule:PRU00090}.				bone morphogenesis (GO:0060349)|brain development (GO:0007420)|cardiac left ventricle morphogenesis (GO:0003214)|cell-cell signaling (GO:0007267)|cellular response to extracellular stimulus (GO:0031668)|cellular response to X-ray (GO:0071481)|chondrocyte development (GO:0002063)|collagen fibril organization (GO:0030199)|convergent extension involved in axis elongation (GO:0060028)|digestive tract morphogenesis (GO:0048546)|embryonic digit morphogenesis (GO:0042733)|gonad development (GO:0008406)|hematopoietic stem cell proliferation (GO:0071425)|male gonad development (GO:0008584)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cardiac muscle cell apoptotic process (GO:0010667)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of dermatome development (GO:0061185)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of gene expression (GO:0010629)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902230)|negative regulation of JUN kinase activity (GO:0043508)|negative regulation of mesodermal cell fate specification (GO:0042662)|negative regulation of peptidyl-tyrosine phosphorylation (GO:0050732)|negative regulation of planar cell polarity pathway involved in axis elongation (GO:2000041)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of Wnt signaling pathway (GO:0030178)|neural tube closure (GO:0001843)|outflow tract morphogenesis (GO:0003151)|patterning of blood vessels (GO:0001569)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of angiogenesis (GO:0045766)|positive regulation of apoptotic process (GO:0043065)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cell growth (GO:0030307)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-anal tail morphogenesis (GO:0036342)|regulation of stem cell division (GO:2000035)|response to drug (GO:0042493)|response to nutrient (GO:0007584)|sclerotome development (GO:0061056)|vasculature development (GO:0001944)|Wnt signaling pathway involved in somitogenesis (GO:0090244)	cytoplasm (GO:0005737)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	endopeptidase activator activity (GO:0061133)|fibronectin binding (GO:0001968)|integrin binding (GO:0005178)|metalloenzyme activator activity (GO:0010577)|PDZ domain binding (GO:0030165)|receptor agonist activity (GO:0048018)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(1)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	16	all_hematologic(180;0.093)	Renal(120;0.117)				AGCGCCGGCCTGCTCCAGCAC	0.632																																						ENST00000274063.4																			0				breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(1)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	16						c.(223-225)cAg>cGg		secreted frizzled-related protein 2							83	94	90					4																	154709764		2203	4300	6503	SO:0001583	missense	6423				brain development|cardiac left ventricle morphogenesis|cell-cell signaling|dermatome development|hemopoietic stem cell proliferation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell growth|negative regulation of cell migration|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of transcription, DNA-dependent|outflow tract morphogenesis|patterning of blood vessels|positive regulation of angiogenesis|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell adhesion mediated by integrin|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of fat cell differentiation|positive regulation of peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter|regulation of stem cell division|sclerotome development	cytoplasm|extracellular matrix|extracellular space|plasma membrane	fibronectin binding|integrin binding|PDZ domain binding|receptor agonist activity|Wnt receptor activity|Wnt-protein binding	g.chr4:154709764T>C	AF017986	CCDS34082.1	4q31.3	2008-08-29			ENSG00000145423	ENSG00000145423		"Secreted frizzled-related proteins"	10777	protein-coding gene	gene with protein product		604157				9391078	Standard	NM_003013		Approved	SARP1, SDF-5, FRP-2	uc003inv.1	Q96HF1	OTTHUMG00000161559	ENST00000274063.4:c.224A>G	4.37:g.154709764T>C	ENSP00000274063:p.Gln75Arg						p.Q75R	NM_003013.2	NP_003004.1	Q96HF1	SFRP2_HUMAN			1	508	-	all_hematologic(180;0.093)	Renal(120;0.117)	75			FZ.		B3KQR2|O14778|Q9HAP5	Missense_Mutation	SNP	ENST00000274063.4	37	c.224A>G	CCDS34082.1	.	.	.	.	.	.	.	.	.	.	T	21.5	4.161954	0.78226	.	.	ENSG00000145423	ENST00000274063	T	0.75938	-0.98	4.67	4.67	0.58626	Frizzled domain (5);	0.051009	0.85682	D	0.000000	T	0.77505	0.4140	L	0.49256	1.55	0.80722	D	1	P	0.45902	0.868	P	0.51945	0.685	T	0.78723	-0.2093	10	0.49607	T	0.09	.	14.3822	0.66919	0.0:0.0:0.0:1.0	.	75	Q96HF1	SFRP2_HUMAN	R	75	ENSP00000274063:Q75R	ENSP00000274063:Q75R	Q	-	2	0	SFRP2	154929214	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.904000	0.87408	1.857000	0.53885	0.533000	0.62120	CAG		0.632	SFRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365296.1			21	75	0	0	0	1	0	21	75					C	154709764	T	C	154709764	3	2	302	1	0	0	0	0	1	0	0	0	14162	1580	55	4	675	4	SFRP2	4	154709764	Missense_Mutation	SNP	T	TCGA-KC-A7FA-01A-21D-A33T-08		154709764	36444512	18	14410											
NPY5R	4889	broad.mit.edu	37	chr4	164272621	164272621	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttttaatgacaatcttatttCaaataggcatttcaagttgg	13	17	6	5	0	3	1	2	1	1	0	3	1	3	1	0	2	0	2	0	2	6	7			TCGA-KC-A7FA-01A-21D-A33T-08	TCGA-KC-A7FA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b63f37c1-b80c-44ba-9d98-1e621ee926d9	a792ba94-7862-4a44-9d3f-fbc56914f409	g.chr4:164272621C>T	ENST00000515560.1	+	4	2718	c.1196C>T	c.(1195-1197)tCa>tTa	p.S399L	NPY5R_ENST00000506953.1_Missense_Mutation_p.S399L|NPY5R_ENST00000338566.3_Missense_Mutation_p.S399L			Q15761	NPY5R_HUMAN	neuropeptide Y receptor Y5	399					cardiac left ventricle morphogenesis (GO:0003214)|eating behavior (GO:0042755)|G-protein coupled receptor signaling pathway (GO:0007186)|generation of ovulation cycle rhythm (GO:0060112)|negative regulation of apoptotic process (GO:0043066)|negative regulation of glutamate secretion (GO:0014050)|negative regulation of synaptic transmission, GABAergic (GO:0032229)|neuropeptide signaling pathway (GO:0007218)|outflow tract morphogenesis (GO:0003151)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of smooth muscle cell proliferation (GO:0048661)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neuropeptide Y receptor activity (GO:0004983)|pancreatic polypeptide receptor activity (GO:0001602)|peptide YY receptor activity (GO:0001601)			NS(2)|biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(4)|lung(26)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	all_hematologic(180;0.166)	Prostate(90;0.109)				AATCTTATTTCAAATAGGCAT	0.343																																					Melanoma(139;1287 1774 9781 19750 25599)	ENST00000515560.1																			0				NS(2)|biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(4)|lung(26)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						c.(1195-1197)tCa>tTa		neuropeptide Y receptor Y5							155	150	151					4																	164272621		2203	4300	6503	SO:0001583	missense	4889				cardiac left ventricle morphogenesis|outflow tract morphogenesis	integral to plasma membrane		g.chr4:164272621C>T	BC042416	CCDS3804.1	4q31-q32	2012-08-08				ENSG00000164129		"GPCR / Class A : Neuropeptide receptors : Y"	7958	protein-coding gene	gene with protein product		602001				8700207, 9417917	Standard	NM_006174		Approved	NPYR5	uc003iqn.3	Q15761		ENST00000515560.1:c.1196C>T	4.37:g.164272621C>T	ENSP00000423917:p.Ser399Leu					NPY5R_ENST00000338566.3_Missense_Mutation_p.S399L|NPY5R_ENST00000506953.1_Missense_Mutation_p.S399L	p.S399L			Q15761	NPY5R_HUMAN			4	2718	+	all_hematologic(180;0.166)	Prostate(90;0.109)	399					Q6GTR7|Q92916	Missense_Mutation	SNP	ENST00000515560.1	37	c.1196C>T	CCDS3804.1	.	.	.	.	.	.	.	.	.	.	C	15.92	2.974571	0.53720	.	.	ENSG00000164129	ENST00000338566;ENST00000515560;ENST00000506953	T;T;T	0.54866	0.55;0.55;0.55	4.8	4.8	0.61643	GPCR, rhodopsin-like superfamily (1);	0.000000	0.51477	D	0.000085	T	0.65657	0.2712	L	0.52759	1.655	0.43342	D	0.995397	D	0.76494	0.999	D	0.74674	0.984	T	0.59484	-0.7446	10	0.17369	T	0.5	.	18.2142	0.89880	0.0:1.0:0.0:0.0	.	399	Q15761	NPY5R_HUMAN	L	399	ENSP00000339377:S399L;ENSP00000423917:S399L;ENSP00000423474:S399L	ENSP00000339377:S399L	S	+	2	0	NPY5R	164492071	1.000000	0.71417	0.997000	0.53966	0.966000	0.64601	4.799000	0.62517	2.370000	0.80446	0.460000	0.39030	TCA		0.343	NPY5R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364633.1	NM_006174		12	64	0	0	0	1	0	12	64					T	164272621	C	T	164272621	3	4	302	1	0	0	0	0	1	0	0	0	10610	838	29	3	1198	3	NPY5R	4	164272621	Missense_Mutation	SNP	C	TCGA-KC-A7FA-01A-21D-A33T-08	9562857	164272621	26881655	19	14411											
PPAP2A	8611	broad.mit.edu	37	chr5	54786858	54786858	+	Intron	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cggtactgtcatggtacggaTagttgatgctgttgtcttta	7	16	12	6	2	2	1	1	1	1	0	2	2	2	2	0	3	3	5	0	3	4	7			TCGA-KC-A7FA-01A-21D-A33T-08	TCGA-KC-A7FA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b63f37c1-b80c-44ba-9d98-1e621ee926d9	a792ba94-7862-4a44-9d3f-fbc56914f409	g.chr5:54786858T>C	ENST00000307259.8	-	2	479				PPAP2A_ENST00000264775.5_Missense_Mutation_p.Y48C|PPAP2A_ENST00000515132.1_Intron	NM_003711.2	NP_003702.2	O14494	LPP1_HUMAN	phosphatidic acid phosphatase type 2A						androgen receptor signaling pathway (GO:0030521)|germ cell migration (GO:0008354)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|lipid metabolic process (GO:0006629)|negative regulation of cell proliferation (GO:0008285)|phospholipid dephosphorylation (GO:0046839)|protein dephosphorylation (GO:0006470)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of lipid metabolic process (GO:0019216)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	phosphatidate phosphatase activity (GO:0008195)			breast(2)|endometrium(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)	9		Lung NSC(810;4.08e-05)|Prostate(74;0.0181)|Breast(144;0.0544)				ATGGTACGGATAGTTGATGCT	0.443																																						ENST00000264775.5																			0				breast(2)|endometrium(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)	9						c.(142-144)tAt>tGt		phosphatidic acid phosphatase type 2A							102	90	94					5																	54786858		2203	4300	6503	SO:0001627	intron_variant	8611				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|androgen receptor signaling pathway|germ cell migration|negative regulation of cell proliferation|phospholipid dephosphorylation|regulation of lipid metabolic process|sphingolipid metabolic process	integral to plasma membrane|membrane fraction	phosphatidate phosphatase activity|sphingosine-1-phosphate phosphatase activity	g.chr5:54786858T>C	AB000888	CCDS34159.1, CCDS34160.1	5q11	2009-05-27			ENSG00000067113	ENSG00000067113	3.1.3.4		9228	protein-coding gene	gene with protein product		607124				9305923	Standard	NM_003711		Approved	PAP-2a, LPP1	uc003jpz.4	O14494	OTTHUMG00000162240	ENST00000307259.8:c.59-15580A>G	5.37:g.54786858T>C						PPAP2A_ENST00000515132.1_Intron|PPAP2A_ENST00000307259.8_Intron	p.Y48C	NM_176895.1	NP_795714.1	O14494	LPP1_HUMAN			2	482	-		Lung NSC(810;4.08e-05)|Prostate(74;0.0181)|Breast(144;0.0544)	47					B7ZKN8|G3XA95|O60457|O60463|Q17RZ4	Missense_Mutation	SNP	ENST00000307259.8	37	c.143A>G	CCDS34159.1	.	.	.	.	.	.	.	.	.	.	T	20.4	3.979625	0.74360	.	.	ENSG00000067113	ENST00000264775	T	0.76060	-0.99	6.17	5.0	0.66597	.	0.156488	0.64402	D	0.000014	D	0.90017	0.6883	H	0.96048	3.76	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.92137	0.5717	10	0.87932	D	0	-14.9104	12.8497	0.57850	0.1223:0.0:0.0:0.8776	.	48	G3XA95	.	C	48	ENSP00000264775:Y48C	ENSP00000264775:Y48C	Y	-	2	0	PPAP2A	54822615	1.000000	0.71417	0.999000	0.59377	0.982000	0.71751	5.926000	0.70070	1.126000	0.42016	0.533000	0.62120	TAT		0.443	PPAP2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368073.1			3	38	0	0	0	1	0	3	38					C	54786858	T	C	54786858	1	2	302	0	1	0	0	0	0	0	0	0	12290	1406	49	4		4	PPAP2A	5	54786858	Intron	SNP	T	TCGA-KC-A7FA-01A-21D-A33T-08		54786858	126128402	20	14412											
PCDHB1	29930	broad.mit.edu	37	chr5	140431178	140431178	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtggcagaggaaatggagagCggctcgtttgtggccaacgt	9	8	17	7	3	0	2	0	0	0	2	1	4	0	3	1	5	2	3	1	5	2	1			TCGA-KC-A7FA-01A-21D-A33T-08	TCGA-KC-A7FA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b63f37c1-b80c-44ba-9d98-1e621ee926d9	a792ba94-7862-4a44-9d3f-fbc56914f409	g.chr5:140431178C>T	ENST00000306549.3	+	1	200	c.123C>T	c.(121-123)agC>agT	p.S41S		NM_013340.2	NP_037472.2	Q9Y5F3	PCDB1_HUMAN	protocadherin beta 1	41	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|liver(1)|lung(13)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	53			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AAATGGAGAGCGGCTCGTTTG	0.542																																						ENST00000306549.3																			0				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|liver(1)|lung(13)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	53						c.(121-123)agC>agT									57	57	57					5																	140431178		2203	4300	6503	SO:0001819	synonymous_variant	0				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140431178C>T	AF152488	CCDS4243.1	5q31	2010-01-26			ENSG00000171815	ENSG00000171815		"Cadherins / Protocadherins : Clustered"	8680	other	protocadherin		606327				10380929	Standard	NM_013340		Approved	PCDH-BETA1	uc003lik.1	Q9Y5F3	OTTHUMG00000129627	ENST00000306549.3:c.123C>T	5.37:g.140431178C>T							p.S41S	NM_013340.2	NP_037472.2	Q9Y5F3	PCDB1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	200	+			41			Cadherin 1.		Q2M257	Silent	SNP	ENST00000306549.3	37	c.123C>T	CCDS4243.1																																																																																				0.542	PCDHB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251822.2	NM_013340		8	28	0	0	0	1	0	8	28					T	140431178	C	T	140431178	2	4	302	1	0	0	0	0	0	0	0	1	11534	767	27	1		1	PCDHB1	5	140431178	Silent	SNP	C	TCGA-KC-A7FA-01A-21D-A33T-08	85644320	140431178	40484082	21	14413											
TIMD4	91937	broad.mit.edu	37	chr5	156381616	156381616	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcaccctcattccatcagtGcggatgagcgcctccttgca	7	10	9	15	2	3	1	3	1	0	0	5	2	5	2	4	1	3	1	4	1	0	2			TCGA-KC-A7FA-01A-21D-A33T-08	TCGA-KC-A7FA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b63f37c1-b80c-44ba-9d98-1e621ee926d9	a792ba94-7862-4a44-9d3f-fbc56914f409	g.chr5:156381616G>A	ENST00000274532.2	-	2	266	c.210C>T	c.(208-210)cgC>cgT	p.R70R	TIMD4_ENST00000407087.3_Silent_p.R70R	NM_138379.2	NP_612388.2	Q96H15	TIMD4_HUMAN	T-cell immunoglobulin and mucin domain containing 4	70	Ig-like V-type.					integral component of membrane (GO:0016021)				NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(23)|ovary(2)|skin(2)	37	Renal(175;0.00488)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TTCCATCAGTGCGGATGAGCG	0.527																																						ENST00000274532.2																			0				NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(23)|ovary(2)|skin(2)	37						c.(208-210)cgC>cgT		T-cell immunoglobulin and mucin domain containing 4							117	107	111					5																	156381616		2203	4300	6503	SO:0001819	synonymous_variant	91937					integral to membrane		g.chr5:156381616G>A	BC008988	CCDS4332.1, CCDS54943.1	5q33.3	2013-01-11			ENSG00000145850	ENSG00000145850		"Immunoglobulin superfamily / V-set domain containing"	25132	protein-coding gene	gene with protein product		610096				12477932	Standard	NM_001146726		Approved		uc003lwh.2	Q96H15	OTTHUMG00000130244	ENST00000274532.2:c.210C>T	5.37:g.156381616G>A						TIMD4_ENST00000407087.3_Silent_p.R70R	p.R70R	NM_138379.2	NP_612388.2	Q96H15	TIMD4_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		2	266	-	Renal(175;0.00488)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	70			Ig-like V-type.		B5MCL9	Silent	SNP	ENST00000274532.2	37	c.210C>T	CCDS4332.1																																																																																				0.527	TIMD4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252568.1	NM_138379		14	32	0	0	0	1	0	14	32					A	156381616	G	A	156381616	2	1	302	1	0	0	0	0	0	0	0	1	15900	1306	46	3		3	TIMD4	5	156381616	Silent	SNP	G	TCGA-KC-A7FA-01A-21D-A33T-08	15950438	156381616	24533644	22	14414											
SPDEF	25803	broad.mit.edu	37	chr6	34506164	34506164	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcttgtcgtagttcatggCgggacggttcttgcggatgc	5	12	15	9	4	2	0	1	0	1	0	3	2	2	2	0	4	3	4	0	4	1	5	rs145642998	byFrequency	TCGA-KC-A7FA-01A-21D-A33T-08	TCGA-KC-A7FA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b63f37c1-b80c-44ba-9d98-1e621ee926d9	a792ba94-7862-4a44-9d3f-fbc56914f409	g.chr6:34506164C>T	ENST00000374037.3	-	6	1309	c.895G>A	c.(895-897)Gcc>Acc	p.A299T	SPDEF_ENST00000544425.1_Missense_Mutation_p.A283T	NM_012391.2	NP_036523.1	O95238	SPDEF_HUMAN	SAM pointed domain containing ETS transcription factor	299					cell differentiation (GO:0030154)|intestinal epithelial cell development (GO:0060576)|lung goblet cell differentiation (GO:0060480)|multicellular organismal development (GO:0007275)|negative regulation of cell fate commitment (GO:0010454)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell fate commitment (GO:0010455)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|skin(3)	15						TAGTTCATGGCGGGACGGTTC	0.592													C|||	4	0.000798722	0.003	0	5008	,	,		15383	0		0	False		,,,				2504	0					ENST00000374037.3																			0				central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|skin(3)	15						c.(895-897)Gcc>Acc		SAM pointed domain containing ETS transcription factor		C	THR/ALA	6,4400	11.4+/-27.6	0,6,2197	165	153	157		895	5.6	0.9	6	dbSNP_134	157	0,8600		0,0,4300	yes	missense	SPDEF	NM_012391.1	58	0,6,6497	TT,TC,CC		0.0,0.1362,0.0461	probably-damaging	299/336	34506164	6,13000	2203	4300	6503	SO:0001583	missense	25803				negative regulation of survival gene product expression|negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr6:34506164C>T	AF071538	CCDS4794.1, CCDS59013.1	6p21.3	2013-08-07	2013-08-07		ENSG00000124664	ENSG00000124664			17257	protein-coding gene	gene with protein product		608144	"SAM pointed domain containing ets transcription factor"			10625666, 6857767	Standard	NM_012391		Approved	PDEF, bA375E1.3	uc003ojq.2	O95238	OTTHUMG00000014548	ENST00000374037.3:c.895G>A	6.37:g.34506164C>T	ENSP00000363149:p.Ala299Thr					SPDEF_ENST00000544425.1_Missense_Mutation_p.A283T	p.A299T	NM_012391.2	NP_036523.1	O95238	SPDEF_HUMAN			6	1309	-			299					B4DWH8|F5H778	Missense_Mutation	SNP	ENST00000374037.3	37	c.895G>A	CCDS4794.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	34	5.376926	0.95945	0.001362	0.0	ENSG00000124664	ENST00000374037;ENST00000544425	T;T	0.13901	2.55;2.55	5.55	5.55	0.83447	Winged helix-turn-helix transcription repressor DNA-binding (1);Ets (5);	0.000000	0.85682	D	0.000000	T	0.15478	0.0373	L	0.41710	1.295	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.993;0.999	T	0.01424	-1.1358	10	0.02654	T	1	.	19.4973	0.95079	0.0:1.0:0.0:0.0	.	283;299	F5H778;O95238	.;SPDEF_HUMAN	T	299;283	ENSP00000363149:A299T;ENSP00000442715:A283T	ENSP00000363149:A299T	A	-	1	0	SPDEF	34614142	1.000000	0.71417	0.921000	0.36526	0.995000	0.86356	6.038000	0.70964	2.608000	0.88229	0.655000	0.94253	GCC		0.592	SPDEF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040246.1	NM_012391		4	167	0	0	0	1	0	4	167					T	34506164	C	T	34506164	3	4	302	1	0	0	0	0	1	0	0	0	15025	768	27	1	116	1	SPDEF	6	34506164	Missense_Mutation	SNP	C	TCGA-KC-A7FA-01A-21D-A33T-08		34506164	136608903	23	14415											
PNPLA1	285848	broad.mit.edu	37	chr6	36261976	36261976	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgcccccacagaggtacatcGatgggggcttcacgggcatg	8	7	14	12	2	1	1	1	0	0	1	2	2	1	1	2	4	2	3	2	4	1	2	rs373148099		TCGA-KC-A7FA-01A-21D-A33T-08	TCGA-KC-A7FA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b63f37c1-b80c-44ba-9d98-1e621ee926d9	a792ba94-7862-4a44-9d3f-fbc56914f409	g.chr6:36261976G>A	ENST00000394571.2	+	4	514	c.514G>A	c.(514-516)Gat>Aat	p.D172N	PNPLA1_ENST00000312917.5_Missense_Mutation_p.D86N|PNPLA1_ENST00000388715.3_Missense_Mutation_p.D77N	NM_001145717.1	NP_001139189.2	Q8N8W4	PLPL1_HUMAN	patatin-like phospholipase domain containing 1	172	Patatin.				lipid catabolic process (GO:0016042)	cytoplasm (GO:0005737)	hydrolase activity (GO:0016787)			breast(1)|kidney(1)|large_intestine(4)|lung(9)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	22						GAGGTACATCGATGGGGGCTT	0.617																																						ENST00000394571.2																			0				breast(1)|kidney(1)|large_intestine(4)|lung(9)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	22						c.(514-516)Gat>Aat		patatin-like phospholipase domain containing 1		G	ASN/ASP,ASN/ASP,ASN/ASP	0,4406		0,0,2203	62	48	53		256,514,229	4.7	1	6		53	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	PNPLA1	NM_001145716.1,NM_001145717.1,NM_173676.2	23,23,23	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging	86/447,172/533,77/438	36261976	1,13005	2203	4300	6503	SO:0001583	missense	285848				lipid catabolic process		hydrolase activity	g.chr6:36261976G>A		CCDS34438.1, CCDS47416.1, CCDS54997.1	6p21.31	2009-01-12			ENSG00000180316	ENSG00000180316		"Patatin-like phospholipase domain containing"	21246	protein-coding gene	gene with protein product		612121				16799181, 19029121	Standard	NM_001145717		Approved	FLJ38755, dJ50J22.1	uc010jwf.2	Q8N8W4	OTTHUMG00000014590	ENST00000394571.2:c.514G>A	6.37:g.36261976G>A	ENSP00000378072:p.Asp172Asn					PNPLA1_ENST00000388715.3_Missense_Mutation_p.D77N|PNPLA1_ENST00000312917.5_Missense_Mutation_p.D86N	p.D172N	NM_001145717.1	NP_001139189.2	Q8N8W4	PLPL1_HUMAN			4	514	+			172			Patatin.		A3RMU3|J3JS20|Q2A6N1|Q3SY95|Q3SY96|Q5R3L2	Missense_Mutation	SNP	ENST00000394571.2	37	c.514G>A	CCDS54997.1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.326098	0.81580	0.0	1.16E-4	ENSG00000180316	ENST00000388715;ENST00000312917;ENST00000457797;ENST00000394571	D;D;D;D	0.97665	-4.48;-4.48;-4.48;-4.48	4.74	4.74	0.60224	Acyl transferase/acyl hydrolase/lysophospholipase (1);	0.000000	0.64402	D	0.000002	D	0.98676	0.9556	M	0.92604	3.325	0.58432	D	0.99999	D;D	0.89917	1.0;1.0	D;D	0.81914	0.988;0.995	D	0.99585	1.0974	10	0.87932	D	0	-21.8087	15.271	0.73702	0.0:0.0:1.0:0.0	.	172;86	Q8N8W4;Q8N8W4-3	PLPL1_HUMAN;.	N	77;86;173;172	ENSP00000373367:D77N;ENSP00000321116:D86N;ENSP00000391868:D173N;ENSP00000378072:D172N	ENSP00000321116:D86N	D	+	1	0	PNPLA1	36369954	1.000000	0.71417	0.998000	0.56505	0.628000	0.37860	8.287000	0.89918	2.463000	0.83235	0.561000	0.74099	GAT		0.617	PNPLA1-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		NM_173676		20	29	0	0	0	1	0	20	29					A	36261976	G	A	36261976	3	1	302	1	0	0	0	0	1	0	0	0	12164	1058	37	2	555	2	PNPLA1	6	36261976	Missense_Mutation	SNP	G	TCGA-KC-A7FA-01A-21D-A33T-08	1755812	36261976	134853091	24	14416											
FILIP1	27145	broad.mit.edu	37	chr6	76022274	76022274	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtcacgtttactggtcggaCagtaataactggactgactc	10	12	10	9	2	1	1	1	1	0	0	3	3	1	3	0	3	2	2	0	3	3	4			TCGA-KC-A7FA-01A-21D-A33T-08	TCGA-KC-A7FA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b63f37c1-b80c-44ba-9d98-1e621ee926d9	a792ba94-7862-4a44-9d3f-fbc56914f409	g.chr6:76022274C>A	ENST00000237172.7	-	5	3604	c.3274G>T	c.(3274-3276)Gtc>Ttc	p.V1092F	FILIP1_ENST00000498523.1_5'UTR|FILIP1_ENST00000370020.1_Missense_Mutation_p.V993F|FILIP1_ENST00000393004.2_Missense_Mutation_p.V1092F	NM_015687.2	NP_056502.1	Q7Z7B0	FLIP1_HUMAN	filamin A interacting protein 1	1092										breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						ACTGGTCGGACAGTAATAACT	0.498																																						ENST00000393004.2																			0				breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						c.(3274-3276)Gtc>Ttc		filamin A interacting protein 1							204	160	175					6																	76022274		2203	4300	6503	SO:0001583	missense	27145							g.chr6:76022274C>A	AB033101	CCDS4984.1, CCDS75480.1	6q14.1	2008-02-05			ENSG00000118407	ENSG00000118407			21015	protein-coding gene	gene with protein product		607307				10574462	Standard	XM_005248713		Approved	FILIP, KIAA1275	uc003pia.3	Q7Z7B0	OTTHUMG00000015056	ENST00000237172.7:c.3274G>T	6.37:g.76022274C>A	ENSP00000237172:p.Val1092Phe					FILIP1_ENST00000498523.1_5'UTR|FILIP1_ENST00000237172.7_Missense_Mutation_p.V1092F|FILIP1_ENST00000370020.1_Missense_Mutation_p.V993F	p.V1092F			Q7Z7B0	FLIP1_HUMAN			5	3495	-			1092					B2RMU6|Q5VUL6|Q86TC3|Q8N8B9|Q96SK6|Q9NVI8|Q9ULE5	Missense_Mutation	SNP	ENST00000237172.7	37	c.3274G>T	CCDS4984.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.015537	0.75161	.	.	ENSG00000118407	ENST00000393004;ENST00000237172;ENST00000370020	T;T;T	0.20463	2.08;2.07;2.08	5.86	5.86	0.93980	.	0.057856	0.64402	D	0.000001	T	0.33206	0.0855	M	0.61703	1.905	0.80722	D	1	D;P;D	0.59767	0.986;0.941;0.965	P;P;P	0.58331	0.757;0.691;0.837	T	0.00787	-1.1566	10	0.42905	T	0.14	-12.3679	20.1865	0.98220	0.0:1.0:0.0:0.0	.	1092;1092;1092	A8K2G7;Q7Z7B0;Q7Z7B0-2	.;FLIP1_HUMAN;.	F	1092;1092;993	ENSP00000376728:V1092F;ENSP00000237172:V1092F;ENSP00000359037:V993F	ENSP00000237172:V1092F	V	-	1	0	FILIP1	76078994	1.000000	0.71417	0.998000	0.56505	0.356000	0.29392	4.899000	0.63245	2.775000	0.95449	0.655000	0.94253	GTC		0.498	FILIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041263.1	XM_029179		30	79	1	0	7.26314e-15	1	7.58836e-15	30	79					A	76022274	C	A	76022274	3	1	302	1	0	0	0	0	1	0	0	0	5894	478	17	5	375	5	FILIP1	6	76022274	Missense_Mutation	SNP	C	TCGA-KC-A7FA-01A-21D-A33T-08	39760298	76022274	95092793	25	14417											
RSPH3	83861	broad.mit.edu	37	chr6	159420666	159420667	+	Frame_Shift_Ins	INS	-	-	T																															ttgtgggacccggagagatgINStaagtagtgccaagggcaag																										TCGA-KC-A7FA-01A-21D-A33T-08	TCGA-KC-A7FA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b63f37c1-b80c-44ba-9d98-1e621ee926d9	a792ba94-7862-4a44-9d3f-fbc56914f409	g.chr6:159420666_159420667insT	ENST00000252655.1	-	1	531_532	c.342_343insA	c.(340-345)ttacatfs	p.H115fs	RSPH3_ENST00000449822.1_5'UTR|RP1-111C20.4_ENST00000607796.1_RNA|RP1-111C20.4_ENST00000606470.1_RNA|RSPH3_ENST00000297262.3_Frame_Shift_Ins_p.H115fs|RSPH3_ENST00000367069.2_5'UTR|RP1-111C20.4_ENST00000607391.1_RNA	NM_031924.4	NP_114130.3	Q86UC2	RSPH3_HUMAN	radial spoke 3 homolog (Chlamydomonas)	115										endometrium(3)|kidney(2)|large_intestine(1)|lung(7)|ovary(2)|skin(1)|stomach(7)	23		Breast(66;0.00519)|Ovarian(120;0.123)		OV - Ovarian serous cystadenocarcinoma(65;2.36e-16)|BRCA - Breast invasive adenocarcinoma(81;5.92e-06)		CCGGAGAGATGTAAGTAGTGCC	0.634																																						ENST00000252655.1																			0				endometrium(3)|kidney(2)|large_intestine(1)|lung(7)|ovary(2)|skin(1)|stomach(7)	23						c.(340-345)ttatctfs		radial spoke 3 homolog (Chlamydomonas)																																				SO:0001589	frameshift_variant	83861							g.chr6:159420666_159420667insT	AF353618	CCDS5260.1	6q25.3	2014-05-16	2008-07-04	2007-06-26	ENSG00000130363	ENSG00000130363			21054	protein-coding gene	gene with protein product		615876	"radial spokehead-like 2"	RSHL2		12477932	Standard	NM_031924		Approved	dJ111C20.1, RSP3	uc003qrx.3	Q86UC2	OTTHUMG00000015924	ENST00000252655.1:c.343dupA	6.37:g.159420667_159420667dupT	ENSP00000252655:p.His115fs					RSPH3_ENST00000367069.2_5'UTR|RP1-111C20.4_ENST00000607391.1_RNA|RSPH3_ENST00000449822.1_5'UTR|RSPH3_ENST00000297262.3_Frame_Shift_Ins_p.S115fs	p.S115fs	NM_031924.4	NP_114130.3	Q86UC2	RSPH3_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.36e-16)|BRCA - Breast invasive adenocarcinoma(81;5.92e-06)	1	531_532	-		Breast(66;0.00519)|Ovarian(120;0.123)	115					Q96LQ5|Q96LX2|Q9BX75	Frame_Shift_Ins	INS	ENST00000252655.1	37	c.342_343insA	CCDS5260.1																																																																																				0.634	RSPH3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_031924		33	56						33	56	---	---	---	---	T	159420667	-	T	159420666	7	5	302	1	0	1	1	0	0	0	0	0	13705	1377	48	0	1371	0	RSPH3	6	159420666	Frame_Shift_Ins	INS	-	TCGA-KC-A7FA-01A-21D-A33T-08	83398392	159420666	11694401	26	14418											
AUTS2	26053	broad.mit.edu	37	chr7	70228266	70228266	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgcaggcccacccctctgctCagagcctctcccagccattg	6	8	8	19	0	3	1	1	0	2	1	4	1	3	1	6	1	4	2	6	1	0	1			TCGA-KC-A7FA-01A-21D-A33T-08	TCGA-KC-A7FA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b63f37c1-b80c-44ba-9d98-1e621ee926d9	a792ba94-7862-4a44-9d3f-fbc56914f409	g.chr7:70228266C>T	ENST00000342771.4	+	7	1474	c.1153C>T	c.(1153-1155)Cag>Tag	p.Q385*	AUTS2_ENST00000406775.2_Nonsense_Mutation_p.Q385*	NM_015570.2	NP_056385.1	Q8WXX7	AUTS2_HUMAN	autism susceptibility candidate 2	385	Ser-rich.									breast(2)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	50		all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093)		LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186)		CCCCTCTGCTCAGAGCCTCTC	0.612																																						ENST00000342771.4																			0				breast(2)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	50						c.(1153-1155)Cag>Tag		autism susceptibility candidate 2							60	60	60					7																	70228266		2199	4284	6483	SO:0001587	stop_gained	26053							g.chr7:70228266C>T	AF326917	CCDS5539.1, CCDS47601.1, CCDS47602.1	7q11.22	2014-01-06			ENSG00000158321	ENSG00000158321			14262	protein-coding gene	gene with protein product		607270				12160723	Standard	XM_005250257		Approved	KIAA0442, FBRSL2	uc003tvw.4	Q8WXX7	OTTHUMG00000023865	ENST00000342771.4:c.1153C>T	7.37:g.70228266C>T	ENSP00000344087:p.Gln385*					AUTS2_ENST00000406775.2_Nonsense_Mutation_p.Q385*	p.Q385*	NM_015570.2	NP_056385.1	Q8WXX7	AUTS2_HUMAN		LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186)	7	1474	+		all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093)	385			Ser-rich.		A4D1Y9|L7QET3|L7QF75|Q5D049|Q6PJU5|Q9Y4F2	Nonsense_Mutation	SNP	ENST00000342771.4	37	c.1153C>T	CCDS5539.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	39|39	7.798541|7.798541	0.98495|0.98495	.|.	.|.	ENSG00000158321|ENSG00000158321	ENST00000406775;ENST00000342771|ENST00000416482	.|.	.|.	.|.	5.34|5.34	5.34|5.34	0.76211|0.76211	.|.	0.171394|.	0.53938|.	D|.	0.000056|.	.|T	.|0.65375	.|0.2685	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.63537	.|-0.6615	.|4	.|.	.|.	.|.	-27.1014|-27.1014	13.3644|13.3644	0.60676|0.60676	0.0:0.9242:0.0:0.0758|0.0:0.9242:0.0:0.0758	.|.	.|.	.|.	.|.	X|L	385|165	.|.	.|.	Q|S	+|+	1|2	0|0	AUTS2|AUTS2	69866202|69866202	0.997000|0.997000	0.39634|0.39634	0.984000|0.984000	0.44739|0.44739	0.841000|0.841000	0.47740|0.47740	3.733000|3.733000	0.55029|0.55029	2.501000|2.501000	0.84356|0.84356	0.563000|0.563000	0.77884|0.77884	CAG|TCA		0.612	AUTS2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251971.2			21	36	0	0	0	1	0	21	36					T	70228266	C	T	70228266	4	4	302	1	0	0	0	0	0	1	0	0	1225	827	29	3	1324	3	AUTS2	7	70228266	Nonsense_Mutation	SNP	C	TCGA-KC-A7FA-01A-21D-A33T-08		70228266	88910397	27	14419											
ENTPD4	9583	broad.mit.edu	37	chr8	23301996	23301996	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaggattctcattccagccGtgcagagaatgtagagaggt	11	9	14	7	1	1	2	1	0	1	2	3	6	2	4	2	3	2	2	2	3	2	3			TCGA-KC-A7FA-01A-21D-A33T-08	TCGA-KC-A7FA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b63f37c1-b80c-44ba-9d98-1e621ee926d9	a792ba94-7862-4a44-9d3f-fbc56914f409	g.chr8:23301996G>T	ENST00000358689.4	-	5	771	c.536C>A	c.(535-537)aCg>aAg	p.T179K	ENTPD4_ENST00000417069.2_Missense_Mutation_p.T179K|ENTPD4_ENST00000356206.6_Missense_Mutation_p.T179K	NM_001128930.2|NM_004901.4	NP_001122402.1|NP_004892.1	Q9Y227	ENTP4_HUMAN	ectonucleoside triphosphate diphosphohydrolase 4	179					UDP catabolic process (GO:0006256)	cytoplasmic vesicle (GO:0031410)|integral component of Golgi membrane (GO:0030173)|intracellular membrane-bounded organelle (GO:0043231)	uridine-diphosphatase activity (GO:0045134)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	25		Prostate(55;0.114)		Colorectal(74;0.0161)|COAD - Colon adenocarcinoma(73;0.0649)		CATTCCAGCCGTGCAGAGAAT	0.532																																						ENST00000358689.4																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	25						c.(535-537)aCg>aAg		ectonucleoside triphosphate diphosphohydrolase 4							126	122	123					8																	23301996		2203	4300	6503	SO:0001583	missense	9583				UDP catabolic process	autophagic vacuole membrane|cytoplasmic vesicle|integral to Golgi membrane	uridine-diphosphatase activity	g.chr8:23301996G>T	AJ131358	CCDS6041.1, CCDS47827.1	8p21.3	2014-05-16	2004-09-22	2004-09-22	ENSG00000197217	ENSG00000197217			14573	protein-coding gene	gene with protein product		607577	"lysosomal apyrase-like 1"	LYSAL1		10393803, 9205841	Standard	NM_001128930		Approved	LALP70, LAP70, KIAA0392, NTPDase-4, UDPase	uc003xdl.3	Q9Y227	OTTHUMG00000097852	ENST00000358689.4:c.536C>A	8.37:g.23301996G>T	ENSP00000351520:p.Thr179Lys					ENTPD4_ENST00000356206.6_Missense_Mutation_p.T179K|ENTPD4_ENST00000417069.2_Missense_Mutation_p.T179K	p.T179K	NM_001128930.2|NM_004901.4	NP_001122402.1|NP_004892.1	Q9Y227	ENTP4_HUMAN		Colorectal(74;0.0161)|COAD - Colon adenocarcinoma(73;0.0649)	5	771	-		Prostate(55;0.114)	179					D3DSS3|O15092	Missense_Mutation	SNP	ENST00000358689.4	37	c.536C>A	CCDS6041.1	.	.	.	.	.	.	.	.	.	.	G	32	5.123384	0.94429	.	.	ENSG00000197217	ENST00000356206;ENST00000358689;ENST00000417069	T;T;T	0.35236	1.32;1.32;1.32	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	T	0.73682	0.3618	H	0.96239	3.79	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	T	0.82297	-0.0527	10	0.87932	D	0	-15.3197	18.4702	0.90771	0.0:0.0:1.0:0.0	.	179;179;179;179	B4DU21;Q8NE73;Q9Y227-2;Q9Y227	.;.;.;ENTP4_HUMAN	K	179	ENSP00000348536:T179K;ENSP00000351520:T179K;ENSP00000408573:T179K	ENSP00000348536:T179K	T	-	2	0	ENTPD4	23357941	1.000000	0.71417	0.988000	0.46212	0.926000	0.56050	9.447000	0.97595	2.693000	0.91896	0.655000	0.94253	ACG		0.532	ENTPD4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000215142.1	NM_004901		17	15	1	0	2.94398e-08	1	2.98665e-08	17	15					T	23301996	G	T	23301996	3	4	302	1	0	0	0	0	1	0	0	0	5141	1145	40	5	1350	5	ENTPD4	8	23301996	Missense_Mutation	SNP	G	TCGA-KC-A7FA-01A-21D-A33T-08		23301996	123062026	28	14420											
LRP12	29967	broad.mit.edu	37	chr8	105509980	105509980	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgggagaattaaaagtaccaTaaaaatattttagccattgc	17	12	7	5	0	0	1	0	0	0	1	0	2	0	1	2	1	3	1	2	1	9	7			TCGA-KC-A7FA-01A-21D-A33T-08	TCGA-KC-A7FA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b63f37c1-b80c-44ba-9d98-1e621ee926d9	a792ba94-7862-4a44-9d3f-fbc56914f409	g.chr8:105509980T>G	ENST00000276654.5	-	5	908	c.800A>C	c.(799-801)tAt>tCt	p.Y267S	LRP12_ENST00000518375.1_5'Flank|LRP12_ENST00000424843.2_Missense_Mutation_p.Y248S	NM_013437.4	NP_038465.1	Q9Y561	LRP12_HUMAN	low density lipoprotein receptor-related protein 12	267	CUB 2. {ECO:0000255|PROSITE- ProRule:PRU00059}.				endocytosis (GO:0006897)|receptor-mediated endocytosis (GO:0006898)|regulation of growth (GO:0040008)|signal transduction (GO:0007165)	coated pit (GO:0005905)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	low-density lipoprotein receptor activity (GO:0005041)			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48			OV - Ovarian serous cystadenocarcinoma(57;1.21e-06)|STAD - Stomach adenocarcinoma(118;0.229)			AAAAGTACCATAAAAATATTT	0.403																																						ENST00000276654.5																			0				NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48						c.(799-801)tAt>tCt		low density lipoprotein receptor-related protein 12							57	60	59					8																	105509980		2203	4300	6503	SO:0001583	missense	29967				endocytosis|regulation of growth	coated pit|integral to plasma membrane	low-density lipoprotein receptor activity|protein binding	g.chr8:105509980T>G	AF166350	CCDS6303.1, CCDS47907.1	8q22.2	2013-02-27	2010-01-26		ENSG00000147650	ENSG00000147650		"Low density lipoprotein receptors"	31708	protein-coding gene	gene with protein product						12809483, 14676824	Standard	NM_013437		Approved	ST7, FLJ12929	uc003yma.3	Q9Y561	OTTHUMG00000164892	ENST00000276654.5:c.800A>C	8.37:g.105509980T>G	ENSP00000276654:p.Tyr267Ser					LRP12_ENST00000424843.2_Missense_Mutation_p.Y248S	p.Y267S	NM_013437.4	NP_038465.1	Q9Y561	LRP12_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;1.21e-06)|STAD - Stomach adenocarcinoma(118;0.229)		5	908	-			267			CUB 2.		A8K137|B4DRQ2	Missense_Mutation	SNP	ENST00000276654.5	37	c.800A>C	CCDS6303.1	.	.	.	.	.	.	.	.	.	.	T	16.67	3.188995	0.57909	.	.	ENSG00000147650	ENST00000424843;ENST00000276654	T;T	0.15256	2.44;2.44	5.66	4.49	0.54785	CUB (5);	0.000000	0.85682	D	0.000000	T	0.20740	0.0499	N	0.13299	0.325	0.80722	D	1	D;D	0.65815	0.994;0.995	P;D	0.63192	0.857;0.912	T	0.03922	-1.0992	10	0.30078	T	0.28	-30.5981	12.0452	0.53475	0.1294:0.0:0.0:0.8706	.	248;267	Q9Y561-2;Q9Y561	.;LRP12_HUMAN	S	248;267	ENSP00000399148:Y248S;ENSP00000276654:Y267S	ENSP00000276654:Y267S	Y	-	2	0	LRP12	105579156	1.000000	0.71417	0.993000	0.49108	0.984000	0.73092	5.864000	0.69575	0.948000	0.37687	0.460000	0.39030	TAT		0.403	LRP12-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380821.1	NM_013437		17	35	0	0	0	1	0	17	35					G	105509980	T	G	105509980	3	3	302	1	0	0	0	0	1	0	0	0	8954	1406	49	5	1791	5	LRP12	8	105509980	Missense_Mutation	SNP	T	TCGA-KC-A7FA-01A-21D-A33T-08	82207984	105509980	40854042	29	14421											
FAM135B	51059	broad.mit.edu	37	chr8	139151265	139151265	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttggtagaggaaacatttgcGcaaatcagcattatccctga	13	11	9	8	1	1	2	1	1	0	1	2	3	2	3	1	2	3	3	1	2	4	4			TCGA-KC-A7FA-01A-21D-A33T-08	TCGA-KC-A7FA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b63f37c1-b80c-44ba-9d98-1e621ee926d9	a792ba94-7862-4a44-9d3f-fbc56914f409	g.chr8:139151265G>A	ENST00000395297.1	-	18	4035	c.3865C>T	c.(3865-3867)Cgc>Tgc	p.R1289C		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	1289								p.R1289G(2)		NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			AAACATTTGCGCAAATCAGCA	0.438										HNSCC(54;0.14)																												ENST00000395297.1																			2	Substitution - Missense(2)	p.R1289G(2)	lung(2)	NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238						c.(3865-3867)Cgc>Tgc		family with sequence similarity 135, member B							132	127	128					8																	139151265		1875	4118	5993	SO:0001583	missense	51059							g.chr8:139151265G>A	AB196635	CCDS6375.2	8q24.23	2008-11-05			ENSG00000147724	ENSG00000147724			28029	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_015912		Approved	C8ORFK32	uc003yuy.3	Q49AJ0	OTTHUMG00000149864	ENST00000395297.1:c.3865C>T	8.37:g.139151265G>A	ENSP00000378710:p.Arg1289Cys	HNSCC(54;0.14)					p.R1289C	NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0805)		18	4035	-	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		1289					B5MDB3|O95879|Q2WGJ7|Q3KP46	Missense_Mutation	SNP	ENST00000395297.1	37	c.3865C>T	CCDS6375.2	.	.	.	.	.	.	.	.	.	.	G	25.2	4.612957	0.87258	.	.	ENSG00000147724	ENST00000395297	T	0.45668	0.89	5.58	5.58	0.84498	Domain of unknown function DUF676, lipase-like (1);	0.000000	0.85682	D	0.000000	T	0.73241	0.3562	M	0.91140	3.18	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.79480	-0.1786	10	0.87932	D	0	-20.3154	18.5599	0.91096	0.0:0.0:1.0:0.0	.	1289	Q49AJ0	F135B_HUMAN	C	1289	ENSP00000378710:R1289C	ENSP00000378710:R1289C	R	-	1	0	FAM135B	139220447	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.897000	0.87356	2.644000	0.89710	0.655000	0.94253	CGC		0.438	FAM135B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313590.3	NM_015912		18	30	0	0	0	1	0	18	30					A	139151265	G	A	139151265	3	1	302	1	0	0	0	0	1	0	0	0	5449	1087	38	1	367	1	FAM135B	8	139151265	Missense_Mutation	SNP	G	TCGA-KC-A7FA-01A-21D-A33T-08	33641285	139151265	7212757	30	14422											
APBA1	320	broad.mit.edu	37	chr9	72131766	72131766	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctcggcctcgggccggtactGcacagcataggcgctctcgt	5	8	13	15	5	1	0	0	0	1	0	4	0	1	0	2	4	3	4	2	4	2	2			TCGA-KC-A7FA-01A-21D-A33T-08	TCGA-KC-A7FA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b63f37c1-b80c-44ba-9d98-1e621ee926d9	a792ba94-7862-4a44-9d3f-fbc56914f409	g.chr9:72131766G>A	ENST00000265381.4	-	2	583	c.361C>T	c.(361-363)Cag>Tag	p.Q121*		NM_001163.3	NP_001154.2	Q02410	APBA1_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 1	121					axon cargo transport (GO:0008088)|cell adhesion (GO:0007155)|gamma-aminobutyric acid secretion (GO:0014051)|glutamate secretion (GO:0014047)|in utero embryonic development (GO:0001701)|intracellular protein transport (GO:0006886)|locomotory behavior (GO:0007626)|multicellular organism growth (GO:0035264)|nervous system development (GO:0007399)|protein complex assembly (GO:0006461)|regulation of gene expression (GO:0010468)|synaptic transmission (GO:0007268)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|synaptic vesicle (GO:0008021)	beta-amyloid binding (GO:0001540)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			endometrium(4)|kidney(2)|large_intestine(12)|lung(13)|prostate(3)|skin(3)	37						GGCCGGTACTGCACAGCATAG	0.731																																						ENST00000265381.4																			0				endometrium(4)|kidney(2)|large_intestine(12)|lung(13)|prostate(3)|skin(3)	37						c.(361-363)Cag>Tag		amyloid beta (A4) precursor protein-binding, family A, member 1							27	25	26					9																	72131766		2201	4298	6499	SO:0001587	stop_gained	320				axon cargo transport|cell adhesion|intracellular protein transport|nervous system development|protein complex assembly|synaptic transmission	synaptic vesicle		g.chr9:72131766G>A	AF029106	CCDS6630.1	9q13-q21	2008-07-18	2008-07-18		ENSG00000107282	ENSG00000107282			578	protein-coding gene	gene with protein product		602414		MINT1		7678331, 7719031	Standard	NM_001163		Approved	D9S411E, X11	uc004ahh.2	Q02410	OTTHUMG00000019984	ENST00000265381.4:c.361C>T	9.37:g.72131766G>A	ENSP00000265381:p.Gln121*						p.Q121*	NM_001163.3	NP_001154.2	Q02410	APBA1_HUMAN			2	583	-			121					O14914|O60570|Q5VYR8	Nonsense_Mutation	SNP	ENST00000265381.4	37	c.361C>T	CCDS6630.1	.	.	.	.	.	.	.	.	.	.	G	37	6.374641	0.97515	.	.	ENSG00000107282	ENST00000265381	.	.	.	5.05	5.05	0.67936	.	0.065921	0.64402	D	0.000007	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.41790	T	0.15	.	18.7673	0.91878	0.0:0.0:1.0:0.0	.	.	.	.	X	121	.	ENSP00000265381:Q121X	Q	-	1	0	APBA1	71321586	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	7.198000	0.77823	2.520000	0.84964	0.561000	0.74099	CAG		0.731	APBA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052589.2	NM_001163		11	11	0	0	0	1	0	11	11					A	72131766	G	A	72131766	4	1	302	1	0	0	0	0	0	1	0	0	756	1328	46	3	2200	3	APBA1	9	72131766	Nonsense_Mutation	SNP	G	TCGA-KC-A7FA-01A-21D-A33T-08		72131766	69081665	31	14423											
PTPDC1	138639	broad.mit.edu	37	chr9	96860386	96860386	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	actttctttctggagtcagtCaaagtttggaggcctggaag	9	13	12	7	0	4	0	2	0	2	0	4	3	4	3	1	4	0	1	1	4	2	3			TCGA-KC-A7FA-01A-21D-A33T-08	TCGA-KC-A7FA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b63f37c1-b80c-44ba-9d98-1e621ee926d9	a792ba94-7862-4a44-9d3f-fbc56914f409	g.chr9:96860386C>G	ENST00000375360.3	+	7	1716	c.1376C>G	c.(1375-1377)tCa>tGa	p.S459*	PTPDC1_ENST00000288976.3_Nonsense_Mutation_p.S511*	NM_001253830.1|NM_177995.2	NP_001240759.1|NP_818931.1	A2A3K4	PTPC1_HUMAN	protein tyrosine phosphatase domain containing 1	459					cilium morphogenesis (GO:0060271)|smoothened signaling pathway (GO:0007224)		protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			endometrium(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	32						TGGAGTCAGTCAAAGTTTGGA	0.473																																						ENST00000375360.3																			0				endometrium(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	32						c.(1375-1377)tCa>tGa		protein tyrosine phosphatase domain containing 1							64	59	60					9																	96860386		2203	4300	6503	SO:0001587	stop_gained	138639						protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr9:96860386C>G	BC051654	CCDS6707.1, CCDS6708.1, CCDS75860.1	9q22.32	2011-06-09			ENSG00000158079	ENSG00000158079		"Protein tyrosine phosphatases / Class I Cys-based PTPs : CDC14s"	30184	protein-coding gene	gene with protein product	"protein tyrosine phosphatase PTP9Q22"					14702039	Standard	NM_152422		Approved	PTP9Q22, FLJ37312	uc010mrj.2	A2A3K4	OTTHUMG00000020258	ENST00000375360.3:c.1376C>G	9.37:g.96860386C>G	ENSP00000364509:p.Ser459*					PTPDC1_ENST00000288976.3_Nonsense_Mutation_p.S511*	p.S459*	NM_001253830.1|NM_177995.2	NP_001240759.1|NP_818931.1	A2A3K4	PTPC1_HUMAN			7	1716	+			459					Q5T3M4|Q6NXE8|Q8IWM1|Q8N1X4|Q8N9F5	Nonsense_Mutation	SNP	ENST00000375360.3	37	c.1376C>G	CCDS6707.1	.	.	.	.	.	.	.	.	.	.	.	33	5.281385	0.95489	.	.	ENSG00000158079	ENST00000375360;ENST00000288976	.	.	.	6.17	6.17	0.99709	.	0.532915	0.22021	N	0.065722	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	-0.8085	15.4014	0.74843	0.0:0.7548:0.2452:0.0	.	.	.	.	X	459;511	.	ENSP00000288976:S511X	S	+	2	0	PTPDC1	95900207	0.050000	0.20438	0.134000	0.22075	0.694000	0.40290	1.295000	0.33377	2.941000	0.99782	0.655000	0.94253	TCA		0.473	PTPDC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000215007.1	NM_177995, NM_152422		7	29	0	0	0	1	0	7	29					G	96860386	C	G	96860386	4	3	302	1	0	0	0	0	0	1	0	0	12773	838	29	5	1640	5	PTPDC1	9	96860386	Nonsense_Mutation	SNP	C	TCGA-KC-A7FA-01A-21D-A33T-08	24728620	96860386	44353045	32	14424											
SMC2	10592	broad.mit.edu	37	chr9	106882359	106882359	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caagtttcaagaactcaaagAtgttcaggatgaactgagaa	17	9	9	6	0	3	4	3	2	0	3	3	6	3	5	0	1	2	2	0	1	6	2			TCGA-KC-A7FA-01A-21D-A33T-08	TCGA-KC-A7FA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b63f37c1-b80c-44ba-9d98-1e621ee926d9	a792ba94-7862-4a44-9d3f-fbc56914f409	g.chr9:106882359A>G	ENST00000286398.7	+	16	2336	c.2048A>G	c.(2047-2049)gAt>gGt	p.D683G	SMC2_ENST00000374793.3_Missense_Mutation_p.D683G|SMC2_ENST00000303219.8_Missense_Mutation_p.D683G|SMC2_ENST00000374787.3_Missense_Mutation_p.D683G	NM_001042551.1|NM_001265602.1|NM_006444.2	NP_001036016.1|NP_001252531.1|NP_006435.2	O95347	SMC2_HUMAN	structural maintenance of chromosomes 2	683					kinetochore organization (GO:0051383)|meiotic chromosome condensation (GO:0010032)|meiotic chromosome segregation (GO:0045132)|mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	condensed chromosome (GO:0000793)|condensin complex (GO:0000796)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein heterodimerization activity (GO:0046982)			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(14)|ovary(5)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	48						GAACTCAAAGATGTTCAGGAT	0.413																																						ENST00000286398.7																			0				breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(14)|ovary(5)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	48						c.(2047-2049)gAt>gGt		structural maintenance of chromosomes 2							119	127	125					9																	106882359		2203	4300	6503	SO:0001583	missense	10592				cell division|mitotic chromosome condensation|symbiosis, encompassing mutualism through parasitism	condensin complex|cytoplasm|nuclear chromosome	ATP binding|protein heterodimerization activity	g.chr9:106882359A>G	AF092563	CCDS35086.1	9q31.1	2008-05-14	2006-07-06	2006-07-06	ENSG00000136824	ENSG00000136824		"Structural maintenance of chromosomes proteins"	14011	protein-coding gene	gene with protein product		605576	"SMC2 (structural maintenance of chromosomes 2, yeast)-like 1", "SMC2 structural maintenance of chromosomes 2-like 1 (yeast)"	SMC2L1		9789013	Standard	NM_006444		Approved	hCAP-E, CAP-E	uc011lvl.2	O95347	OTTHUMG00000020401	ENST00000286398.7:c.2048A>G	9.37:g.106882359A>G	ENSP00000286398:p.Asp683Gly					SMC2_ENST00000303219.8_Missense_Mutation_p.D683G|SMC2_ENST00000374787.3_Missense_Mutation_p.D683G|SMC2_ENST00000374793.3_Missense_Mutation_p.D683G	p.D683G	NM_001042551.1|NM_001265602.1|NM_006444.2	NP_001036016.1|NP_001252531.1|NP_006435.2	O95347	SMC2_HUMAN			16	2336	+			683					Q6IEE0|Q9P1P2	Missense_Mutation	SNP	ENST00000286398.7	37	c.2048A>G	CCDS35086.1	.	.	.	.	.	.	.	.	.	.	A	15.11	2.735843	0.49045	.	.	ENSG00000136824	ENST00000286398;ENST00000374793;ENST00000303219;ENST00000374787	D;D;D;D	0.85955	-2.05;-2.05;-2.05;-2.05	5.43	-6.04	0.02178	SMCs flexible hinge (1);	0.442457	0.26673	N	0.023091	T	0.57844	0.2081	N	0.08118	0	0.35799	D	0.822962	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.13282	-1.0515	10	0.41790	T	0.15	-1.4856	0.2897	0.00257	0.3613:0.222:0.2009:0.2158	.	683;683	O95347;Q2KQ72	SMC2_HUMAN;.	G	683	ENSP00000286398:D683G;ENSP00000363925:D683G;ENSP00000306152:D683G;ENSP00000363919:D683G	ENSP00000286398:D683G	D	+	2	0	SMC2	105922180	0.983000	0.35010	0.982000	0.44146	0.990000	0.78478	0.728000	0.26013	-0.620000	0.05641	-0.446000	0.05623	GAT		0.413	SMC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053470.1			8	110	0	0	0	1	0	8	110					G	106882359	A	G	106882359	3	3	302	1	0	0	0	0	1	0	0	0	14783	333	12	4	2106	4	SMC2	9	106882359	Missense_Mutation	SNP	A	TCGA-KC-A7FA-01A-21D-A33T-08	10021973	106882359	34331072	33	14425											
BEND7	222389	broad.mit.edu	37	chr10	13489309	13489309	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tccagtctttcatcactgtcCgcgatctctgctggttacaa	7	14	7	13	2	4	0	2	0	2	0	7	1	6	0	2	1	2	2	2	1	2	2			TCGA-KC-A7FA-01A-21D-A33T-08	TCGA-KC-A7FA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b63f37c1-b80c-44ba-9d98-1e621ee926d9	a792ba94-7862-4a44-9d3f-fbc56914f409	g.chr10:13489309C>T	ENST00000396900.2	-	8	1190	c.1191G>A	c.(1189-1191)gcG>gcA	p.A397A	BEND7_ENST00000486542.1_5'UTR|BEND7_ENST00000396898.2_Silent_p.A410A|BEND7_ENST00000341083.3_Silent_p.A346A|BEND7_ENST00000378605.3_Silent_p.A358A			Q8N7W2	BEND7_HUMAN	BEN domain containing 7	397						extracellular vesicular exosome (GO:0070062)				breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(2)|ovary(2)|prostate(1)|stomach(1)	17						CATCACTGTCCGCGATCTCTG	0.388																																						ENST00000341083.3																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(2)|ovary(2)|prostate(1)|stomach(1)	17						c.(1036-1038)gcG>gcA		BEN domain containing 7							190	163	172					10																	13489309		2203	4300	6503	SO:0001819	synonymous_variant	222389						protein binding	g.chr10:13489309C>T	BC031618	CCDS7099.1, CCDS41490.1	10p14	2012-11-22	2008-10-03	2008-10-03	ENSG00000165626	ENSG00000165626		"BEN domain containing"	23514	protein-coding gene	gene with protein product			"chromosome 10 open reading frame 30"	C10orf30			Standard	NM_152751		Approved	FLJ40283	uc001imm.2	Q8N7W2	OTTHUMG00000017699	ENST00000396900.2:c.1191G>A	10.37:g.13489309C>T						BEND7_ENST00000396900.2_Silent_p.A397A|BEND7_ENST00000396898.2_Silent_p.A410A|BEND7_ENST00000486542.1_5'UTR|BEND7_ENST00000378605.3_Silent_p.A358A	p.A346A	NM_152751.2	NP_689964.2	Q8N7W2	BEND7_HUMAN			8	1334	-			397			BEN.		Q5SYY7|Q5SYY8|Q5SYY9|Q8N5T7	Silent	SNP	ENST00000396900.2	37	c.1038G>A																																																																																					0.388	BEND7-202	KNOWN	basic	protein_coding	protein_coding		NM_152751		32	62	0	0	0	1	0	32	62					T	13489309	C	T	13489309	2	4	302	1	0	0	0	0	0	0	0	1	1403	639	23	2		2	BEND7	10	13489309	Silent	SNP	C	TCGA-KC-A7FA-01A-21D-A33T-08		13489309	122045438	34	14426											
SPAG6	9576	broad.mit.edu	37	chr10	22657474	22657474	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttacgagcagttggtaaacaTtctccccagctagctcaggc	10	10	9	12	1	2	0	1	0	1	0	3	1	2	0	2	2	5	5	2	2	4	5			TCGA-KC-A7FA-01A-21D-A33T-08	TCGA-KC-A7FA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b63f37c1-b80c-44ba-9d98-1e621ee926d9	a792ba94-7862-4a44-9d3f-fbc56914f409	g.chr10:22657474T>G	ENST00000376624.3	+	4	481	c.339T>G	c.(337-339)caT>caG	p.H113Q	SPAG6_ENST00000376601.1_Intron|SPAG6_ENST00000376603.2_Missense_Mutation_p.H189Q|SPAG6_ENST00000313311.6_Missense_Mutation_p.H113Q|RP11-301N24.3_ENST00000422675.1_RNA|SPAG6_ENST00000538630.1_Missense_Mutation_p.H88Q	NM_001253855.1|NM_012443.3	NP_001240784.1|NP_036575.1	O75602	SPAG6_HUMAN	sperm associated antigen 6	113					cell projection organization (GO:0030030)|spermatid development (GO:0007286)	axoneme (GO:0005930)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|motile cilium (GO:0031514)|nucleus (GO:0005634)				breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|prostate(1)|skin(2)	27						TTGGTAAACATTCTCCCCAGC	0.458																																						ENST00000376603.2																			0				breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|prostate(1)|skin(2)	27						c.(565-567)caT>caG		sperm associated antigen 6							116	108	111					10																	22657474		2203	4300	6503	SO:0001583	missense	9576				cell projection organization|spermatid development	axoneme|cilium|cytoplasm|flagellum|microtubule	binding	g.chr10:22657474T>G	AF079363	CCDS7139.1, CCDS7140.1, CCDS58071.1, CCDS73072.1	10p12.31	2014-01-21			ENSG00000077327	ENSG00000077327		"Armadillo repeat containing"	11215	protein-coding gene	gene with protein product	"axoneme central apparatus protein"	605730				10493827	Standard	NM_012443		Approved	Repro-SA-1, pf16, CT141	uc001iri.3	O75602	OTTHUMG00000017808	ENST00000376624.3:c.339T>G	10.37:g.22657474T>G	ENSP00000365811:p.His113Gln					SPAG6_ENST00000538630.1_Missense_Mutation_p.H88Q|RP11-301N24.3_ENST00000422675.1_RNA|SPAG6_ENST00000376601.1_Intron|SPAG6_ENST00000376624.3_Missense_Mutation_p.H113Q|SPAG6_ENST00000313311.6_Missense_Mutation_p.H113Q	p.H189Q			O75602	SPAG6_HUMAN			4	709	+			113					A8K1I8|B4DXZ4|Q5VUX5|Q5VUX6|Q5VUX7|Q6FI74|Q8NHQ6	Missense_Mutation	SNP	ENST00000376624.3	37	c.567T>G	CCDS7139.1	.	.	.	.	.	.	.	.	.	.	T	23.5	4.429664	0.83776	.	.	ENSG00000077327	ENST00000376624;ENST00000376603;ENST00000538630;ENST00000313311;ENST00000435326	T;T;T;T;T	0.64803	-0.12;-0.12;-0.12;-0.12;0.64	5.7	-8.69	0.00855	Armadillo-like helical (1);Armadillo-type fold (1);	0.136180	0.64402	D	0.000002	T	0.79753	0.4500	M	0.93197	3.39	0.54753	D	0.999985	D;D;D;D	0.89917	0.999;1.0;1.0;1.0	D;D;D;D	0.85130	0.993;0.991;0.997;0.996	D	0.86680	0.1916	10	0.87932	D	0	-15.0322	16.54	0.84383	0.0:0.63:0.0:0.37	.	88;189;113;113	B4DXZ4;O75602-3;O75602-2;O75602	.;.;.;SPAG6_HUMAN	Q	113;189;88;113;189	ENSP00000365811:H113Q;ENSP00000365788:H189Q;ENSP00000441325:H88Q;ENSP00000323599:H113Q;ENSP00000406594:H189Q	ENSP00000323599:H113Q	H	+	3	2	SPAG6	22697480	0.281000	0.24258	0.477000	0.27303	0.994000	0.84299	-0.462000	0.06704	-1.841000	0.01183	-0.250000	0.11733	CAT		0.458	SPAG6-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047187.1			30	42	0	0	0	1	0	30	42					G	22657474	T	G	22657474	3	3	302	1	0	0	0	0	1	0	0	0	14982	1490	52	5	353	5	SPAG6	10	22657474	Missense_Mutation	SNP	T	TCGA-KC-A7FA-01A-21D-A33T-08	9168165	22657474	112877273	35	14427											
JMJD1C	221037	broad.mit.edu	37	chr10	64968481	64968481	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aatcttttccagtctgtgacCtatttagatccaggtcattt	9	17	6	9	0	3	2	1	1	2	1	5	2	5	2	3	1	0	0	3	1	3	6			TCGA-KC-A7FA-01A-21D-A33T-08	TCGA-KC-A7FA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b63f37c1-b80c-44ba-9d98-1e621ee926d9	a792ba94-7862-4a44-9d3f-fbc56914f409	g.chr10:64968481C>G	ENST00000399262.2	-	10	3166	c.2948G>C	c.(2947-2949)aGg>aCg	p.R983T	JMJD1C_ENST00000402544.1_Missense_Mutation_p.R764T|JMJD1C_ENST00000399251.1_Missense_Mutation_p.R764T|JMJD1C_ENST00000542921.1_Missense_Mutation_p.R801T	NM_032776.1	NP_116165.1	Q15652	JHD2C_HUMAN	jumonji domain containing 1C	983					blood coagulation (GO:0007596)|chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	intracellular (GO:0005622)|nucleoplasm (GO:0005654)	dioxygenase activity (GO:0051213)|metal ion binding (GO:0046872)|thyroid hormone receptor binding (GO:0046966)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	77	Prostate(12;0.0119)|all_hematologic(501;0.191)					AGTCTGTGACCTATTTAGATC	0.393																																						ENST00000399262.2																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	77						c.(2947-2949)aGg>aCg		jumonji domain containing 1C							106	98	101					10																	64968481		1882	4119	6001	SO:0001583	missense	221037				blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding	g.chr10:64968481C>G	L40411	CCDS41532.1, CCDS60538.1	10q22.1	2011-05-25	2004-03-31	2004-04-01	ENSG00000171988	ENSG00000171988			12313	protein-coding gene	gene with protein product		604503	"thyroid hormone receptor interactor 8"	TRIP8		7776974	Standard	XM_005269624		Approved	DKFZp761F0118, KIAA1380, FLJ14374	uc001jmn.3	Q15652	OTTHUMG00000018311	ENST00000399262.2:c.2948G>C	10.37:g.64968481C>G	ENSP00000382204:p.Arg983Thr					JMJD1C_ENST00000542921.1_Missense_Mutation_p.R801T|JMJD1C_ENST00000402544.1_Missense_Mutation_p.R764T|JMJD1C_ENST00000399251.1_Missense_Mutation_p.R764T	p.R983T	NM_032776.1	NP_116165.1	Q15652	JHD2C_HUMAN			10	3166	-	Prostate(12;0.0119)|all_hematologic(501;0.191)		983					A0T124|Q5SQZ8|Q5SQZ9|Q5SR00|Q7Z3E7|Q8N3U0|Q96KB9|Q9P2G7	Missense_Mutation	SNP	ENST00000399262.2	37	c.2948G>C	CCDS41532.1	.	.	.	.	.	.	.	.	.	.	C	23.1	4.380516	0.82792	.	.	ENSG00000171988	ENST00000399262;ENST00000402544;ENST00000399251;ENST00000542921	T;T;T;T	0.63096	0.32;-0.02;1.84;0.33	5.31	5.31	0.75309	.	0.051950	0.64402	D	0.000001	T	0.72112	0.3420	M	0.62723	1.935	0.47476	D	0.999431	D;D;D	0.58620	0.983;0.967;0.967	P;P;P	0.57324	0.818;0.636;0.614	T	0.74166	-0.3753	10	0.72032	D	0.01	-14.1715	14.1329	0.65266	0.0:0.9269:0.0:0.0731	.	524;983;801	A6PW35;Q15652;A0T124	.;JHD2C_HUMAN;.	T	983;764;764;801	ENSP00000382204:R983T;ENSP00000384990:R764T;ENSP00000382195:R764T;ENSP00000444682:R801T	ENSP00000382195:R764T	R	-	2	0	JMJD1C	64638487	0.997000	0.39634	1.000000	0.80357	0.966000	0.64601	3.684000	0.54671	2.854000	0.98071	0.655000	0.94253	AGG		0.393	JMJD1C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048249.2	NM_004241		33	45	0	0	0	1	0	33	45					G	64968481	C	G	64968481	3	3	302	1	0	0	0	0	1	0	0	0	7950	681	24	5	4742	5	JMJD1C	10	64968481	Missense_Mutation	SNP	C	TCGA-KC-A7FA-01A-21D-A33T-08	42311007	64968481	70566266	36	14428											
ECD	11319	broad.mit.edu	37	chr10	74916082	74916082	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tatagattctgaagcaagtaTtttttctgaatgtgctgtga	11	17	9	4	0	2	4	0	3	2	1	2	4	2	4	0	0	2	3	0	0	6	7			TCGA-KC-A7FA-01A-21D-A33T-08	TCGA-KC-A7FA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b63f37c1-b80c-44ba-9d98-1e621ee926d9	a792ba94-7862-4a44-9d3f-fbc56914f409	g.chr10:74916082T>G	ENST00000372979.4	-	5	747	c.541A>C	c.(541-543)Ata>Cta	p.I181L	ECD_ENST00000610256.1_5'Flank|ECD_ENST00000454759.2_Missense_Mutation_p.I181L|ECD_ENST00000430082.2_Missense_Mutation_p.I181L	NM_007265.2	NP_009196.1	O95905	SGT1_HUMAN	ecdysoneless homolog (Drosophila)	181					cell proliferation (GO:0008283)|regulation of G1/S transition of mitotic cell cycle (GO:2000045)|regulation of glycolytic process (GO:0006110)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|pancreas(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Prostate(51;0.0119)					GAAGCAAGTATTTTTTCTGAA	0.403																																						ENST00000372979.4																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|pancreas(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(541-543)Ata>Cta		ecdysoneless homolog (Drosophila)							141	136	137					10																	74916082		2203	4300	6503	SO:0001583	missense	11319				regulation of glycolysis|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleus	transcription coactivator activity	g.chr10:74916082T>G	BC000721	CCDS7321.1, CCDS44433.1, CCDS44434.1	10q22.3	2006-02-07				ENSG00000122882			17029	protein-coding gene	gene with protein product						9928932, 15128659	Standard	NM_007265		Approved	hSGT1, GCR2	uc001jtn.3	O95905		ENST00000372979.4:c.541A>C	10.37:g.74916082T>G	ENSP00000362070:p.Ile181Leu					ECD_ENST00000454759.1_Missense_Mutation_p.I181L|ECD_ENST00000430082.1_Missense_Mutation_p.I181L	p.I181L	NM_007265.2	NP_009196.1	O95905	SGT1_HUMAN			5	747	-	Prostate(51;0.0119)		181					C9JX46|E9PAW8	Missense_Mutation	SNP	ENST00000372979.4	37	c.541A>C	CCDS7321.1	.	.	.	.	.	.	.	.	.	.	T	5.178	0.218349	0.09810	.	.	ENSG00000122882	ENST00000372979;ENST00000430082;ENST00000454759;ENST00000453402;ENST00000413026	T;T;T;T;T	0.14893	2.47;2.47;2.47;2.47;2.47	5.78	2.28	0.28536	.	0.193727	0.53938	D	0.000045	T	0.05181	0.0138	N	0.04275	-0.24	0.21020	N	0.999803	B;B;B	0.25206	0.12;0.071;0.029	B;B;B	0.26614	0.071;0.033;0.048	T	0.40664	-0.9551	10	0.05351	T	0.99	-12.0251	3.6827	0.08316	0.1651:0.2481:0.0:0.5867	.	181;181;181	E9PAW8;C9JX46;O95905	.;.;SGT1_HUMAN	L	181;181;181;107;155	ENSP00000362070:I181L;ENSP00000401566:I181L;ENSP00000395786:I181L;ENSP00000391367:I107L;ENSP00000416288:I155L	ENSP00000362070:I181L	I	-	1	0	ECD	74586088	0.997000	0.39634	0.940000	0.37924	0.306000	0.27790	2.621000	0.46418	0.159000	0.19401	-0.256000	0.11100	ATA		0.403	ECD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048606.1	NM_007265		11	72	0	0	0	1	0	11	72					G	74916082	T	G	74916082	3	3	302	1	0	0	0	0	1	0	0	0	4888	1493	52	5	1536	5	ECD	10	74916082	Missense_Mutation	SNP	T	TCGA-KC-A7FA-01A-21D-A33T-08	9947601	74916082	60618665	37	14429											
DPYSL4	10570	broad.mit.edu	37	chr10	134016313	134016313	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggactttgtctacaagaggaTcaaagctcgcaacagggtag	13	8	12	8	1	2	1	1	0	1	1	3	3	2	3	0	3	3	3	0	3	5	3			TCGA-KC-A7FA-01A-21D-A33T-08	TCGA-KC-A7FA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b63f37c1-b80c-44ba-9d98-1e621ee926d9	a792ba94-7862-4a44-9d3f-fbc56914f409	g.chr10:134016313T>G	ENST00000338492.4	+	12	1609	c.1445T>G	c.(1444-1446)aTc>aGc	p.I482S	DPYSL4_ENST00000368629.1_Intron|DPYSL4_ENST00000368627.1_Intron	NM_006426.2	NP_006417.2	O14531	DPYL4_HUMAN	dihydropyrimidinase-like 4	482					axon guidance (GO:0007411)|nervous system development (GO:0007399)|pyrimidine nucleobase catabolic process (GO:0006208)	cytosol (GO:0005829)	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides (GO:0016812)			NS(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		all_cancers(35;4.33e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19)		OV - Ovarian serous cystadenocarcinoma(35;7.21e-05)|Epithelial(32;8.01e-05)|all cancers(32;9.29e-05)|BRCA - Breast invasive adenocarcinoma(275;0.206)		TACAAGAGGATCAAAGCTCGC	0.632																																						ENST00000338492.4																			0				NS(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32						c.(1444-1446)aTc>aGc		dihydropyrimidinase-like 4							52	60	57					10																	134016313		2203	4300	6503	SO:0001583	missense	10570				axon guidance|pyrimidine base catabolic process	cytosol	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides	g.chr10:134016313T>G	AB006713	CCDS7665.1	10q25.2-q26	2008-05-14			ENSG00000151640	ENSG00000151640			3016	protein-coding gene	gene with protein product		608407				8973361, 9652388	Standard	NM_006426		Approved	ULIP4, DRP-4	uc009ybb.3	O14531	OTTHUMG00000019283	ENST00000338492.4:c.1445T>G	10.37:g.134016313T>G	ENSP00000339850:p.Ile482Ser					DPYSL4_ENST00000368629.1_Intron|DPYSL4_ENST00000368627.1_Intron	p.I482S	NM_006426.2	NP_006417.2	O14531	DPYL4_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;7.21e-05)|Epithelial(32;8.01e-05)|all cancers(32;9.29e-05)|BRCA - Breast invasive adenocarcinoma(275;0.206)	12	1609	+		all_cancers(35;4.33e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19)	482					B2RMQ1|D3DRG5|O00240|Q5T0Q7	Missense_Mutation	SNP	ENST00000338492.4	37	c.1445T>G	CCDS7665.1	.	.	.	.	.	.	.	.	.	.	T	21.9	4.219674	0.79464	.	.	ENSG00000151640	ENST00000338492	D	0.85955	-2.05	4.07	4.07	0.47477	Metal-dependent hydrolase, composite domain (1);	0.054356	0.64402	D	0.000001	D	0.91116	0.7203	M	0.75264	2.295	0.80722	D	1	D	0.76494	0.999	D	0.73380	0.98	D	0.92161	0.5736	10	0.72032	D	0.01	-12.7109	13.5726	0.61856	0.0:0.0:0.0:1.0	.	482	O14531	DPYL4_HUMAN	S	482	ENSP00000339850:I482S	ENSP00000339850:I482S	I	+	2	0	DPYSL4	133866303	1.000000	0.71417	0.986000	0.45419	0.762000	0.43233	5.644000	0.67902	1.843000	0.53566	0.529000	0.55759	ATC		0.632	DPYSL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051050.2			22	45	0	0	0	1	0	22	45					G	134016313	T	G	134016313	3	3	302	1	0	0	0	0	1	0	0	0	4749	1435	50	5	1491	5	DPYSL4	10	134016313	Missense_Mutation	SNP	T	TCGA-KC-A7FA-01A-21D-A33T-08	59100231	134016313	1518434	38	14430											
RBM14	10432	broad.mit.edu	37	chr11	66392698	66392698	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gccagccagcagcctacgccGcacaagccactaccccaatg	11	3	8	19	2	0	0	0	0	0	0	0	0	0	0	7	0	6	2	7	0	4	2			TCGA-KC-A7FA-01A-21D-A33T-08	TCGA-KC-A7FA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b63f37c1-b80c-44ba-9d98-1e621ee926d9	a792ba94-7862-4a44-9d3f-fbc56914f409	g.chr11:66392698G>A	ENST00000310137.4	+	2	1490	c.1351G>A	c.(1351-1353)Gca>Aca	p.A451T	RBM14-RBM4_ENST00000511114.1_Intron|RBM14_ENST00000409738.4_Intron|RBM14_ENST00000393979.3_Intron|RBM14-RBM4_ENST00000500635.2_Intron|RBM4_ENST00000514361.3_Intron|RBM4_ENST00000503028.2_Intron|RBM14-RBM4_ENST00000412278.2_Intron	NM_006328.3	NP_006319.1	Q96PK6	RBM14_HUMAN	RNA binding motif protein 14	451	Ala-rich.				DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|glucocorticoid receptor signaling pathway (GO:0042921)|histone deacetylation (GO:0016575)|intracellular estrogen receptor signaling pathway (GO:0030520)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to hormone (GO:0009725)|transcription from RNA polymerase II promoter (GO:0006366)	mediator complex (GO:0016592)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|transcription factor complex (GO:0005667)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein binding, bridging (GO:0030674)|RNA binding (GO:0003723)|RNA polymerase II transcription cofactor activity (GO:0001104)		RBM14/PACS1(2)	breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	17						AGCCTACGCCGCACAAGCCAC	0.617																																						ENST00000310137.4																		RBM14/PACS1(2)	0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	17						c.(1351-1353)Gca>Aca		RNA binding motif protein 14							67	73	71					11																	66392698		2191	4273	6464	SO:0001583	missense	10432				DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|histone deacetylation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus	mediator complex|ribonucleoprotein complex|transcription factor complex	ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|protein binding, bridging|RNA binding|RNA polymerase II transcription cofactor activity	g.chr11:66392698G>A	AF080561	CCDS8147.1, CCDS55772.1, CCDS55773.1	11q13.2	2013-02-12			ENSG00000239306	ENSG00000239306		"RNA binding motif (RRM) containing"	14219	protein-coding gene	gene with protein product	"coactivator activator", "SYT interacting protein"	612409				9285794	Standard	NM_006328		Approved	SIP, SYTIP1, COAA, DKFZp779J0927	uc001oit.3	Q96PK6	OTTHUMG00000140380	ENST00000310137.4:c.1351G>A	11.37:g.66392698G>A	ENSP00000311747:p.Ala451Thr					RBM4_ENST00000503028.2_Intron|RBM4_ENST00000514361.3_Intron|RBM14_ENST00000393979.3_Intron|RBM14-RBM4_ENST00000500635.2_Intron|RBM14_ENST00000409738.4_Intron|RBM14-RBM4_ENST00000412278.2_Intron	p.A451T	NM_006328.3	NP_006319.1	Q96PK6	RBM14_HUMAN			2	1490	+			451			Ala-rich.		B0LM41|B3KMN4|D6RGD8|O75932|Q2PYN1|Q53GV1|Q68DQ9|Q96PK5	Missense_Mutation	SNP	ENST00000310137.4	37	c.1351G>A	CCDS8147.1	.	.	.	.	.	.	.	.	.	.	G	14.33	2.503682	0.44558	.	.	ENSG00000239306	ENST00000310137	D	0.83250	-1.7	5.75	5.75	0.90469	.	0.113754	0.64402	D	0.000012	D	0.84906	0.5576	N	0.24115	0.695	0.80722	D	1	D	0.76494	0.999	D	0.68621	0.959	D	0.86495	0.1800	10	0.72032	D	0.01	-2.6928	15.4418	0.75190	0.0:0.0:1.0:0.0	.	451	Q96PK6	RBM14_HUMAN	T	451	ENSP00000311747:A451T	ENSP00000311747:A451T	A	+	1	0	RBM14	66149274	0.999000	0.42202	1.000000	0.80357	0.950000	0.60333	3.650000	0.54424	2.720000	0.93068	0.655000	0.94253	GCA		0.617	RBM14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277128.1	NM_006328		4	203	0	0	0	1	0	4	203					A	66392698	G	A	66392698	3	1	302	1	0	0	0	0	1	0	0	0	13115	1087	38	1	1357	1	RBM14	11	66392698	Missense_Mutation	SNP	G	TCGA-KC-A7FA-01A-21D-A33T-08		66392698	68613818	39	14431											
SCN2B	6327	broad.mit.edu	37	chr11	118037790	118037790	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cacggccaccgtggagtcccGctcagggggctctggaaagg	7	5	16	13	3	2	0	1	0	1	0	3	2	3	2	3	6	0	2	3	6	1	0			TCGA-KC-A7FA-01A-21D-A33T-08	TCGA-KC-A7FA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b63f37c1-b80c-44ba-9d98-1e621ee926d9	a792ba94-7862-4a44-9d3f-fbc56914f409	g.chr11:118037790G>A	ENST00000278947.5	-	4	701	c.460C>T	c.(460-462)Cgg>Tgg	p.R154W		NM_004588.4	NP_004579.1	O60939	SCN2B_HUMAN	sodium channel, voltage-gated, type II, beta subunit	154	Ig-like C2-type.				cardiac muscle cell action potential involved in contraction (GO:0086002)|cardiac muscle contraction (GO:0060048)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|nervous system development (GO:0007399)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of sodium ion transmembrane transporter activity (GO:2000649)|response to pyrethroid (GO:0046684)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	voltage-gated sodium channel complex (GO:0001518)	sodium channel regulator activity (GO:0017080)|voltage-gated sodium channel activity involved in cardiac muscle cell action potential (GO:0086006)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)	7	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.19e-05)|Epithelial(105;0.00117)	Valproic Acid(DB00313)|Zonisamide(DB00909)	GTGGAGTCCCGCTCAGGGGGC	0.622																																						ENST00000278947.5																			0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)	7						c.(460-462)Cgg>Tgg		sodium channel, voltage-gated, type II, beta subunit							54	57	56					11																	118037790		2200	4296	6496	SO:0001583	missense	6327				synaptic transmission	voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr11:118037790G>A	AY358945	CCDS8390.1	11q23.3	2013-09-19	2012-02-28		ENSG00000149575	ENSG00000149575		"Sodium channels", "Voltage-gated ion channels / Sodium channels", "Immunoglobulin superfamily / V-set domain containing"	10589	protein-coding gene	gene with protein product		601327	"sodium channel, voltage-gated, type II, beta polypeptide", "sodium channel, voltage-gated, type II, beta"			10198179	Standard	NM_004588		Approved		uc001psf.2	O60939	OTTHUMG00000048248	ENST00000278947.5:c.460C>T	11.37:g.118037790G>A	ENSP00000278947:p.Arg154Trp						p.R154W	NM_004588.4	NP_004579.1	O60939	SCN2B_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.19e-05)|Epithelial(105;0.00117)	4	701	-	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)	154			Ig-like C2-type.		O75302|Q9UNN3	Missense_Mutation	SNP	ENST00000278947.5	37	c.460C>T	CCDS8390.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.124617	0.77436	.	.	ENSG00000149575	ENST00000278947	D	0.97404	-4.37	5.04	5.04	0.67666	Cytochrome c1, transmembrane anchor, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.96926	0.8996	L	0.57536	1.79	0.80722	D	1	D	0.76494	0.999	P	0.56088	0.791	D	0.95793	0.8826	10	0.38643	T	0.18	-25.2394	13.1746	0.59619	0.0:0.0:0.8405:0.1595	.	154	O60939	SCN2B_HUMAN	W	154	ENSP00000278947:R154W	ENSP00000278947:R154W	R	-	1	2	SCN2B	117543000	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.388000	0.44398	2.640000	0.89533	0.655000	0.94253	CGG		0.622	SCN2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109748.2	NM_004588		9	26	0	0	0	1	0	9	26					A	118037790	G	A	118037790	3	1	302	1	0	0	0	0	1	0	0	0	13917	1086	38	1	191	1	SCN2B	11	118037790	Missense_Mutation	SNP	G	TCGA-KC-A7FA-01A-21D-A33T-08	51645092	118037790	16968726	40	14432											
OVCH1	341350	broad.mit.edu	37	chr12	29649132	29649132	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actcactgaggctgtccaggCagtgtgctgctgtaacaacc	9	9	11	12	0	1	1	1	1	0	0	2	1	2	1	2	2	4	5	2	2	2	1			TCGA-KC-A7FA-01A-21D-A33T-08	TCGA-KC-A7FA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b63f37c1-b80c-44ba-9d98-1e621ee926d9	a792ba94-7862-4a44-9d3f-fbc56914f409	g.chr12:29649132C>A	ENST00000318184.5	-	3	262	c.263G>T	c.(262-264)tGc>tTc	p.C88F		NM_183378.2	NP_899234.2	Q7RTY7	OVCH1_HUMAN	ovochymase 1	88	Peptidase S1 1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(43)|ovary(5)|pancreas(3)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)	92	Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)					GCTGTCCAGGCAGTGTGCTGC	0.463																																						ENST00000318184.5																			0				NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(43)|ovary(5)|pancreas(3)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)	92						c.(262-264)tGc>tTc		ovochymase 1							77	78	78					12																	29649132		2024	4199	6223	SO:0001583	missense	341350				proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity	g.chr12:29649132C>A	BN000128		12p11.23	2012-11-08			ENSG00000187950	ENSG00000187950			23080	protein-coding gene	gene with protein product						12838346	Standard	NM_183378		Approved	OVCH	uc001rix.1	Q7RTY7	OTTHUMG00000167741	ENST00000318184.5:c.263G>T	12.37:g.29649132C>A	ENSP00000326708:p.Cys88Phe						p.C88F	NM_183378.2	NP_899234.2	Q7RTY7	OVCH1_HUMAN			3	262	-	Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)		88			Peptidase S1 1.			Missense_Mutation	SNP	ENST00000318184.5	37	c.263G>T		.	.	.	.	.	.	.	.	.	.	C	11.88	1.770537	0.31320	.	.	ENSG00000187950	ENST00000318184	D	0.98090	-4.71	2.82	1.88	0.25563	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	.	.	.	.	D	0.98950	0.9643	H	0.97682	4.055	0.25870	N	0.983721	D	0.71674	0.998	D	0.69824	0.966	D	0.94511	0.7718	9	0.87932	D	0	.	7.5195	0.27620	0.0:0.732:0.268:0.0	.	88	Q7RTY7	OVCH1_HUMAN	F	88	ENSP00000326708:C88F	ENSP00000326708:C88F	C	-	2	0	OVCH1	29540399	0.999000	0.42202	0.728000	0.30774	0.689000	0.40095	2.062000	0.41413	0.713000	0.32060	0.655000	0.94253	TGC		0.463	OVCH1-001	KNOWN	non_canonical_TEC|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000395997.2	NM_183378		3	2	1	0	0.00024832	1	0.00024832	3	2					A	29649132	C	A	29649132	3	1	302	1	0	0	0	0	1	0	0	0	11323	710	25	5	3245	5	OVCH1	12	29649132	Missense_Mutation	SNP	C	TCGA-KC-A7FA-01A-21D-A33T-08		29649132	104202763	41	14433											
MLL2	8085	broad.mit.edu	37	chr12	49431090	49431105	+	Frame_Shift_Del	DEL	ACCATAGCCATGGATG	ACCATAGCCATGGATG	-																															gcatatgcccttgattggacAccatagccatggatggagcc																								rs368118089|rs80149580	byFrequency	TCGA-KC-A7FA-01A-21D-A33T-08	TCGA-KC-A7FA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b63f37c1-b80c-44ba-9d98-1e621ee926d9	a792ba94-7862-4a44-9d3f-fbc56914f409	g.chr12:49431090_49431105delACCATAGCCATGGATG	ENST00000301067.7	-	34	10033_10048	c.10034_10049delCATCCATGGCTATGGT	c.(10033-10050)ccatccatggctatggtgfs	p.PSMAMV3345fs	KMT2D_ENST00000549743.1_5'Flank	NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	3345	Gln-rich.				chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.M3079T(1)									TTGATTGGACACCATAGCCATGGATGGAGCCAGGCG	0.616																																						ENST00000301067.7																			1	Substitution - Missense(1)	p.M3079T(1)	kidney(1)								c.(10033-10050)cgfs		lysine (K)-specific methyltransferase 2D																																				SO:0001589	frameshift_variant	8085							g.chr12:49431090_49431105delACCATAGCCATGGATG	AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	7133	protein-coding gene	gene with protein product		602113	"trinucleotide repeat containing 21", "myeloid/lymphoid or mixed-lineage leukemia 2"	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.10034_10049delCATCCATGGCTATGGT	12.37:g.49431090_49431105delACCATAGCCATGGATG	ENSP00000301067:p.Pro3345fs						p.PSMAMV3345fs	NM_003482.3	NP_003473.3					34	10033_10048	-								O14687	Frame_Shift_Del	DEL	ENST00000301067.7	37	c.10034_10049delCATCCATGGCTATGGT	CCDS44873.1																																																																																				0.616	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2			9	17						9	17	---	---	---	---	-	49431105	ACCATAGCCATGGATG	-	49431090	7	5	302	1	0	1	0	1	0	0	0	0	9621	159	6	0	6648	0	MLL2	12	49431090	Frame_Shift_Del	DEL	ACCATAGCCATGGATG	TCGA-KC-A7FA-01A-21D-A33T-08	19781958	49431090	84420805	42	14434											
FREM2	341640	broad.mit.edu	37	chr13	39264479	39264479	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	aaatcttggtcaatggcattCcagcagagcagtttactcaa	13	11	8	9	0	3	1	2	0	1	1	4	1	4	1	1	2	3	4	1	2	4	4			TCGA-KC-A7FA-01A-21D-A33T-08	TCGA-KC-A7FA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b63f37c1-b80c-44ba-9d98-1e621ee926d9	a792ba94-7862-4a44-9d3f-fbc56914f409	g.chr13:39264479C>T	ENST00000280481.7	+	1	3214	c.2998C>T	c.(2998-3000)Cca>Tca	p.P1000S		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	1000					cell communication (GO:0007154)|homophilic cell adhesion (GO:0007156)|inner ear development (GO:0048839)|morphogenesis of an epithelium (GO:0002009)	basement membrane (GO:0005604)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		CAATGGCATTCCAGCAGAGCA	0.438																																						ENST00000280481.7																			0				NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148						c.(2998-3000)Cca>Tca		FRAS1 related extracellular matrix protein 2							137	140	139					13																	39264479		2203	4300	6503	SO:0001583	missense	341640				cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr13:39264479C>T	BX538150	CCDS31960.1	13q13.3	2004-12-15			ENSG00000150893	ENSG00000150893			25396	protein-coding gene	gene with protein product		608945				15345741	Standard	NM_207361		Approved	DKFZp686J0811	uc001uwv.3	Q5SZK8	OTTHUMG00000016759	ENST00000280481.7:c.2998C>T	13.37:g.39264479C>T	ENSP00000280481:p.Pro1000Ser						p.P1000S	NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)	1	3214	+		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)	1000					Q4QQG1|Q5H9N8|Q5T6Q1|Q6N057|Q6ZSB4|Q7Z305|Q7Z341	Missense_Mutation	SNP	ENST00000280481.7	37	c.2998C>T	CCDS31960.1	.	.	.	.	.	.	.	.	.	.	C	11.08	1.532966	0.27387	.	.	ENSG00000150893	ENST00000280481	T	0.28895	1.59	5.79	4.95	0.65309	.	0.000000	0.85682	D	0.000000	T	0.32466	0.0830	M	0.64567	1.98	0.80722	D	1	B	0.26975	0.165	B	0.23275	0.045	T	0.06899	-1.0801	10	0.36615	T	0.2	.	14.9625	0.71166	0.0:0.9314:0.0:0.0686	.	1000	Q5SZK8	FREM2_HUMAN	S	1000	ENSP00000280481:P1000S	ENSP00000280481:P1000S	P	+	1	0	FREM2	38162479	1.000000	0.71417	0.997000	0.53966	0.586000	0.36452	4.942000	0.63547	1.461000	0.47929	0.650000	0.86243	CCA		0.438	FREM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044599.2	NM_207361		4	88	0	0	0	1	0	4	88					T	39264479	C	T	39264479	3	4	302	1	0	0	0	0	1	0	0	0	6045	855	30	3	3000	3	FREM2	13	39264479	Missense_Mutation	SNP	C	TCGA-KC-A7FA-01A-21D-A33T-08		39264479	75905399	43	14435											
PYGL	5836	broad.mit.edu	37	chr14	51383369	51383369	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	actatccagaccttggaccaGggcagtttttcaatatccac	11	11	7	12	0	1	1	1	0	0	1	3	2	3	2	4	2	0	2	4	2	3	5			TCGA-KC-A7FA-01A-21D-A33T-08	TCGA-KC-A7FA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b63f37c1-b80c-44ba-9d98-1e621ee926d9	a792ba94-7862-4a44-9d3f-fbc56914f409	g.chr14:51383369G>C	ENST00000216392.7	-	9	1415	c.1083C>G	c.(1081-1083)ccC>ccG	p.P361P	PYGL_ENST00000544180.2_Silent_p.P327P|PYGL_ENST00000532462.1_Silent_p.P361P	NM_002863.4	NP_002854.3	P06737	PYGL_HUMAN	phosphorylase, glycogen, liver	361					5-phosphoribose 1-diphosphate biosynthetic process (GO:0006015)|carbohydrate metabolic process (GO:0005975)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|glycogen metabolic process (GO:0005977)|necroptotic process (GO:0070266)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	AMP binding (GO:0016208)|ATP binding (GO:0005524)|bile acid binding (GO:0032052)|drug binding (GO:0008144)|glucose binding (GO:0005536)|glycogen phosphorylase activity (GO:0008184)|protein homodimerization activity (GO:0042803)|purine nucleobase binding (GO:0002060)|pyridoxal phosphate binding (GO:0030170)|vitamin binding (GO:0019842)			NS(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)|skin(3)	25	all_epithelial(31;0.00825)|Breast(41;0.148)				Adenosine monophosphate(DB00131)	CCTTGGACCAGGGCAGTTTTT	0.453																																						ENST00000216392.7																			0				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)|skin(3)	25						c.(1081-1083)ccC>ccG		phosphorylase, glycogen, liver	Adenosine monophosphate(DB00131)|Pyridoxal Phosphate(DB00114)|Riboflavin(DB00140)						106	106	106					14																	51383369		2203	4300	6503	SO:0001819	synonymous_variant	5836				glucose homeostasis|glucose metabolic process|glycogen catabolic process	cytosol|soluble fraction	AMP binding|ATP binding|bile acid binding|drug binding|glucose binding|glycogen phosphorylase activity|protein homodimerization activity|purine base binding|pyridoxal phosphate binding	g.chr14:51383369G>C		CCDS32080.1, CCDS53894.1	14q11.2-q24.3	2013-03-01	2008-07-31		ENSG00000100504	ENSG00000100504	2.4.1.1	"Glycogen phosphorylases"	9725	protein-coding gene	gene with protein product	"Hers disease", "glycogen storage disease type VI", "glycogen phosphorylase, liver form"	613741	"phosphorylase, glycogen; liver"			2877458	Standard	NM_002863		Approved		uc001wyu.3	P06737	OTTHUMG00000166596	ENST00000216392.7:c.1083C>G	14.37:g.51383369G>C						PYGL_ENST00000544180.2_Silent_p.P327P|PYGL_ENST00000532462.1_Silent_p.P361P	p.P361P	NM_002863.4	NP_002854.3	P06737	PYGL_HUMAN			9	1415	-	all_epithelial(31;0.00825)|Breast(41;0.148)		361					A6NDQ4|B4DUB7|F5H816|O60567|O60752|O60913|Q501V9|Q641R5|Q96G82	Silent	SNP	ENST00000216392.7	37	c.1083C>G	CCDS32080.1																																																																																				0.453	PYGL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390654.3	NM_002863		11	32	0	0	0	1	0	11	32					C	51383369	G	C	51383369	2	2	302	1	0	0	0	0	0	0	0	1	12861	987	35	5		5	PYGL	14	51383369	Silent	SNP	G	TCGA-KC-A7FA-01A-21D-A33T-08		51383369	55966171	44	14436											
MEIS2	4212	broad.mit.edu	37	chr15	37388558	37388558	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gacgtctccgccagccactcCaggttcccggggagtgcagg	6	6	14	15	3	1	0	0	0	1	0	4	2	3	1	5	4	2	2	5	4	0	1			TCGA-KC-A7FA-01A-21D-A33T-08	TCGA-KC-A7FA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b63f37c1-b80c-44ba-9d98-1e621ee926d9	a792ba94-7862-4a44-9d3f-fbc56914f409	g.chr15:37388558C>G	ENST00000561208.1	-	3	737	c.319G>C	c.(319-321)Gga>Cga	p.G107R	MEIS2_ENST00000219869.9_Intron|MEIS2_ENST00000444725.1_Missense_Mutation_p.G107R|MEIS2_ENST00000340545.5_Missense_Mutation_p.G94R|MEIS2_ENST00000338564.5_Missense_Mutation_p.G107R|MEIS2_ENST00000424352.2_Missense_Mutation_p.G107R|MEIS2_ENST00000559561.1_Missense_Mutation_p.G107R|MEIS2_ENST00000397620.2_Missense_Mutation_p.G19R|RP11-128A17.1_ENST00000559509.1_RNA|MEIS2_ENST00000559085.1_Missense_Mutation_p.G94R|MEIS2_ENST00000382766.2_Missense_Mutation_p.G107R|MEIS2_ENST00000397624.3_Missense_Mutation_p.G19R|MEIS2_ENST00000557796.2_Missense_Mutation_p.G94R			O14770	MEIS2_HUMAN	Meis homeobox 2	107	Required for interaction with PBX1. {ECO:0000250}.				eye development (GO:0001654)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|pancreas development (GO:0031016)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to growth factor (GO:0070848)|response to mechanical stimulus (GO:0009612)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription cofactor activity (GO:0003712)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	36		all_epithelial(112;9.77e-14)|Lung NSC(122;1.42e-09)|all_lung(180;2.2e-08)|Ovarian(310;0.134)|Melanoma(134;0.155)		all cancers(64;9.33e-21)|GBM - Glioblastoma multiforme(113;1.71e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0288)		CCAGCCACTCCAGGTTCCCGG	0.612																																						ENST00000338564.5																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	36						c.(319-321)Gga>Cga		Meis homeobox 2							43	42	42					15																	37388558		2201	4297	6498	SO:0001583	missense	4212				negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr15:37388558C>G	AF017418	CCDS10044.1, CCDS10045.1, CCDS42014.1, CCDS45217.1, CCDS45218.1, CCDS45219.1, CCDS45220.1	15q14	2011-06-20	2007-02-15		ENSG00000134138	ENSG00000134138		"Homeoboxes / TALE class"	7001	protein-coding gene	gene with protein product		601740	"Meis (mouse) homolog 2", "Meis1, myeloid ecotropic viral integration site 1 homolog 2 (mouse)"			9383298	Standard	NM_172315		Approved	MRG1, HsT18361	uc001zjr.4	O14770	OTTHUMG00000129781	ENST00000561208.1:c.319G>C	15.37:g.37388558C>G	ENSP00000453793:p.Gly107Arg					MEIS2_ENST00000561208.1_Missense_Mutation_p.G107R|MEIS2_ENST00000444725.1_Missense_Mutation_p.G107R|MEIS2_ENST00000382766.2_Missense_Mutation_p.G107R|MEIS2_ENST00000557796.2_Missense_Mutation_p.G94R|MEIS2_ENST00000559085.1_Missense_Mutation_p.G94R|MEIS2_ENST00000219869.9_Intron|MEIS2_ENST00000424352.2_Missense_Mutation_p.G107R|MEIS2_ENST00000397620.2_Missense_Mutation_p.G19R|MEIS2_ENST00000397624.3_Missense_Mutation_p.G19R|MEIS2_ENST00000559561.1_Missense_Mutation_p.G107R|MEIS2_ENST00000340545.5_Missense_Mutation_p.G94R	p.G107R	NM_001220482.1	NP_001207411.1	O14770	MEIS2_HUMAN		all cancers(64;9.33e-21)|GBM - Glioblastoma multiforme(113;1.71e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0288)	4	765	-		all_epithelial(112;9.77e-14)|Lung NSC(122;1.42e-09)|all_lung(180;2.2e-08)|Ovarian(310;0.134)|Melanoma(134;0.155)	107					A6NJI5|A8MWD5|B3KP98|B3KPQ6|Q96DI2|Q96KI4|Q96KI5|Q9NRS1|Q9NRS2|Q9NRS3	Missense_Mutation	SNP	ENST00000561208.1	37	c.319G>C	CCDS10044.1	.	.	.	.	.	.	.	.	.	.	C	34	5.315881	0.95655	.	.	ENSG00000134138	ENST00000314177;ENST00000338564;ENST00000382766;ENST00000424352;ENST00000444725;ENST00000340545;ENST00000397624;ENST00000397620	T;T;T;T;T;T;T	0.32753	1.6;1.44;1.44;1.6;1.6;1.6;1.6	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	T	0.58032	0.2094	M	0.70275	2.135	0.80722	D	1	P;P;D;P;D;P;P	0.89917	0.913;0.889;0.996;0.889;1.0;0.751;0.913	P;P;D;P;D;P;P	0.97110	0.536;0.516;0.944;0.637;1.0;0.467;0.655	T	0.59490	-0.7445	10	0.66056	D	0.02	-30.7355	19.4891	0.95042	0.0:1.0:0.0:0.0	.	94;107;107;107;107;19;94	Q96DI2;O14770-4;O14770;O14770-3;O14770-2;B3KPQ6;B3KP98	.;.;MEIS2_HUMAN;.;.;.;.	R	107;107;107;107;107;94;94;19	ENSP00000326296:G107R;ENSP00000341400:G107R;ENSP00000372216:G107R;ENSP00000404185:G107R;ENSP00000391887:G107R;ENSP00000339549:G94R;ENSP00000380745:G19R	ENSP00000326296:G107R	G	-	1	0	MEIS2	35175850	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.790000	0.85794	2.600000	0.87896	0.650000	0.86243	GGA		0.612	MEIS2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252003.2	NM_170677		8	33	0	0	0	1	0	8	33					G	37388558	C	G	37388558	3	3	302	1	0	0	0	0	1	0	0	0	9468	603	21	5	1217	5	MEIS2	15	37388558	Missense_Mutation	SNP	C	TCGA-KC-A7FA-01A-21D-A33T-08		37388558	65142834	45	14437											
TP53	7157	broad.mit.edu	37	chr17	7576851	7576851	+	Splice_Site	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aagaggtcccaagacttagtAcctgaagggtgaaatattct	14	10	10	7	0	1	4	0	2	1	2	2	4	2	4	2	2	1	1	2	2	7	4			TCGA-KC-A7FA-01A-21D-A33T-08	TCGA-KC-A7FA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b63f37c1-b80c-44ba-9d98-1e621ee926d9	a792ba94-7862-4a44-9d3f-fbc56914f409	g.chr17:7576851A>C	ENST00000269305.4	-	9	1183		c.e9+1		TP53_ENST00000455263.2_Splice_Site|TP53_ENST00000359597.4_Splice_Site|TP53_ENST00000420246.2_Splice_Site|TP53_ENST00000445888.2_Splice_Site|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000413465.2_Intron	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53						apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.?(12)|p.0?(8)|p.I332fs*49(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	AAGACTTAGTACCTGAAGGGT	0.463		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"Mis, N, F"	tumor protein p53			"L, E, M, O"		"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"	"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"		21	Unknown(12)|Whole gene deletion(8)|Insertion - Frameshift(1)	p.?(12)|p.0?(8)|p.I332fs*49(1)	haematopoietic_and_lymphoid_tissue(5)|bone(4)|central_nervous_system(3)|lung(3)|stomach(2)|upper_aerodigestive_tract(1)|breast(1)|ovary(1)|pancreas(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185						c.e9+1	Other conserved DNA damage response genes	tumor protein p53							116	109	111					17																	7576851		2203	4300	6503	SO:0001630	splice_region_variant	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7576851A>C	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"Li-Fraumeni syndrome"	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.993+1T>G	17.37:g.7576851A>C		HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_ENST00000269305.4_Splice_Site|TP53_ENST00000359597.4_Splice_Site|TP53_ENST00000413465.2_Intron|TP53_ENST00000455263.2_Splice_Site|TP53_ENST00000445888.2_Splice_Site		NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	9	1126	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)						Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Splice_Site	SNP	ENST00000269305.4	37		CCDS11118.1	.	.	.	.	.	.	.	.	.	.	A	13.34	2.209202	0.39003	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000419024	.	.	.	4.41	4.41	0.53225	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.2161	0.43168	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TP53	7517576	1.000000	0.71417	1.000000	0.80357	0.620000	0.37586	4.743000	0.62110	1.993000	0.58246	0.459000	0.35465	.		0.463	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546	Intron	13	13	0	0	0	1	0	13	13					C	7576851	A	C	7576851	5	2	302	1	0	0	0	0	0	0	1	0	16378	405	14	5	287	5	TP53	17	7576851	Splice_Site	SNP	A	TCGA-KC-A7FA-01A-21D-A33T-08		7576851	73618359	46	14438											
CHAF1A	10036	broad.mit.edu	37	chr19	4433394	4433394	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccagtggagctatgtgacatCggtgccctcggcccccaaag	8	7	12	14	2	0	1	0	1	0	0	2	2	0	2	4	3	2	1	4	3	2	1	rs139033845		TCGA-KC-A7FA-01A-21D-A33T-08	TCGA-KC-A7FA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b63f37c1-b80c-44ba-9d98-1e621ee926d9	a792ba94-7862-4a44-9d3f-fbc56914f409	g.chr19:4433394C>T	ENST00000301280.5	+	13	2632	c.2531C>T	c.(2530-2532)tCg>tTg	p.S844L	CTB-50L17.5_ENST00000590159.1_RNA	NM_005483.2	NP_005474	Q13111	CAF1A_HUMAN	chromatin assembly factor 1, subunit A (p150)	844	Binds to p60.				cell cycle (GO:0007049)|chromatin assembly (GO:0031497)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication-dependent nucleosome assembly (GO:0006335)|protein complex assembly (GO:0006461)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	CAF-1 complex (GO:0033186)|nuclear chromatin (GO:0000790)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|identical protein binding (GO:0042802)|unfolded protein binding (GO:0051082)			breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	27		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18)		TATGTGACATCGGTGCCCTCG	0.657								Chromatin Structure																														ENST00000301280.5																			0				breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	27						c.(2530-2532)tCg>tTg	Chromatin Structure	chromatin assembly factor 1, subunit A (p150)		C	LEU/SER	1,4405	2.1+/-5.4	0,1,2202	58	56	56		2531	-6	0	19	dbSNP_134	56	0,8600		0,0,4300	no	missense	CHAF1A	NM_005483.2	145	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign	844/957	4433394	1,13005	2203	4300	6503	SO:0001583	missense	10036				cell cycle|DNA repair|DNA replication|DNA replication-dependent nucleosome assembly|protein complex assembly|regulation of transcription, DNA-dependent|transcription, DNA-dependent	CAF-1 complex|WINAC complex	chromatin binding|chromo shadow domain binding|unfolded protein binding	g.chr19:4433394C>T	U20979	CCDS32875.1	19p13.3	2008-07-16				ENSG00000167670			1910	protein-coding gene	gene with protein product	"chromatin assembly factor I (150 kDa)"	601246				7600578	Standard	NM_005483		Approved	CAF1P150, CAF1B, CAF-1, CAF1, P150, MGC71229	uc002mal.3	Q13111		ENST00000301280.5:c.2531C>T	19.37:g.4433394C>T	ENSP00000301280:p.Ser844Leu						p.S844L	NM_005483.2	NP_005474.2	Q13111	CAF1A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18)	13	2632	+		Hepatocellular(1079;0.137)	844			Binds to p60.		Q6NXG5|Q7Z7K3|Q9UJY8	Missense_Mutation	SNP	ENST00000301280.5	37	c.2531C>T	CCDS32875.1	.	.	.	.	.	.	.	.	.	.	C	6.691	0.496056	0.12762	2.27E-4	0.0	ENSG00000167670	ENST00000301280	T	0.26810	1.71	5.62	-6.04	0.02178	.	.	.	.	.	T	0.11324	0.0276	N	0.14661	0.345	0.09310	N	1	B	0.30104	0.268	B	0.23419	0.046	T	0.30707	-0.9969	8	.	.	.	-0.5516	10.7568	0.46241	0.2846:0.603:0.0:0.1123	.	844	Q13111	CAF1A_HUMAN	L	844	ENSP00000301280:S844L	.	S	+	2	0	CHAF1A	4384394	0.000000	0.05858	0.000000	0.03702	0.085000	0.17905	-0.447000	0.06828	-0.799000	0.04439	-0.312000	0.09012	TCG		0.657	CHAF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458310.2	NM_005483		26	39	0	0	0	1	0	26	39					T	4433394	C	T	4433394	3	4	302	1	0	0	0	0	1	0	0	0	3311	893	31	2	2581	2	CHAF1A	19	4433394	Missense_Mutation	SNP	C	TCGA-KC-A7FA-01A-21D-A33T-08		4433394	54695589	47	14439											
CCDC105	126402	broad.mit.edu	37	chr19	15121816	15121816	+	Frame_Shift_Del	DEL	A	A	-																															gctggacccgaacgtggcccAccacctcggccgcgccgcct																										TCGA-KC-A7FA-01A-21D-A33T-08	TCGA-KC-A7FA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b63f37c1-b80c-44ba-9d98-1e621ee926d9	a792ba94-7862-4a44-9d3f-fbc56914f409	g.chr19:15121816delA	ENST00000292574.3	+	1	261	c.179delA	c.(178-180)cacfs	p.H61fs	SLC1A6_ENST00000430939.2_5'Flank	NM_173482.2	NP_775753.2	Q8IYK2	CC105_HUMAN	coiled-coil domain containing 105	61						extracellular vesicular exosome (GO:0070062)				NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(4)|skin(2)	23						AACGTGGCCCACCACCTCGGC	0.701																																						ENST00000292574.3																			0				NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(4)|skin(2)	23						c.(178-180)ccfs		coiled-coil domain containing 105							15	15	15					19																	15121816		2181	4273	6454	SO:0001589	frameshift_variant	126402				microtubule cytoskeleton organization	microtubule		g.chr19:15121816delA	AK097684	CCDS12322.1	19p13.12	2008-02-05				ENSG00000160994			26866	protein-coding gene	gene with protein product						12477932	Standard	NM_173482		Approved	FLJ40365	uc002nae.2	Q8IYK2		ENST00000292574.3:c.179delA	19.37:g.15121816delA	ENSP00000292574:p.His61fs						p.H61fs	NM_173482.2	NP_775753.2	Q8IYK2	CC105_HUMAN			1	261	+			61					Q8N7T5|Q8NDL5	Frame_Shift_Del	DEL	ENST00000292574.3	37	c.179delA	CCDS12322.1																																																																																				0.701	CCDC105-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466293.1	NM_173482		2	4						2	4	---	---	---	---	-	15121816	A	-	15121816	7	5	302	1	0	1	0	1	0	0	0	0	2740	159	6	0	181	0	CCDC105	19	15121816	Frame_Shift_Del	DEL	A	TCGA-KC-A7FA-01A-21D-A33T-08	10688422	15121816	44007167	48	14440											
SIN3B	23309	broad.mit.edu	37	chr19	16962337	16962337	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tcctccgccccgtgtctgcaCccgccaaggtacctgtgagc	5	8	10	18	3	1	1	0	1	1	0	3	1	3	1	7	1	3	2	7	1	2	1			TCGA-KC-A7FA-01A-21D-A33T-08	TCGA-KC-A7FA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b63f37c1-b80c-44ba-9d98-1e621ee926d9	a792ba94-7862-4a44-9d3f-fbc56914f409	g.chr19:16962337C>T	ENST00000248054.5	+	6	862	c.841C>T	c.(841-843)Ccc>Tcc	p.P281S	SIN3B_ENST00000379803.1_Missense_Mutation_p.P281S|SIN3B_ENST00000596802.1_Missense_Mutation_p.P281S					SIN3 transcription regulator family member B											endometrium(4)|kidney(2)|large_intestine(8)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	26						CGTGTCTGCACCCGCCAAGGT	0.677																																						ENST00000379803.1																			0				endometrium(4)|kidney(2)|large_intestine(8)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	26						c.(841-843)Ccc>Tcc		SIN3 transcription regulator family member B																																				SO:0001583	missense	23309				cellular lipid metabolic process|transcription, DNA-dependent	nucleoplasm	protein binding	g.chr19:16962337C>T	AB014600	CCDS32946.1, CCDS74308.1	19p13.12	2013-08-21	2013-08-21						19354	protein-coding gene	gene with protein product		607777	"SIN3 homolog B, transcription regulator (yeast)", "SIN3 transcription regulator homolog B (yeast)"			9734811	Standard	XM_005259832		Approved	KIAA0700	uc002ney.2	O75182		ENST00000248054.5:c.841C>T	19.37:g.16962337C>T	ENSP00000248054:p.Pro281Ser					SIN3B_ENST00000248054.5_Missense_Mutation_p.P281S|SIN3B_ENST00000596802.1_Missense_Mutation_p.P281S	p.P281S	NM_015260.2	NP_056075.1	O75182	SIN3B_HUMAN			6	855	+			281						Missense_Mutation	SNP	ENST00000248054.5	37	c.841C>T		.	.	.	.	.	.	.	.	.	.	C	16.07	3.017819	0.54576	.	.	ENSG00000127511	ENST00000379803;ENST00000248054	T;T	0.48201	0.82;0.92	5.13	5.13	0.70059	.	0.240117	0.43579	D	0.000545	T	0.51890	0.1701	L	0.46157	1.445	0.45366	D	0.998356	P;B;P	0.48503	0.911;0.017;0.814	P;B;B	0.54590	0.756;0.009;0.372	T	0.40979	-0.9534	10	0.07990	T	0.79	-30.3416	15.7081	0.77602	0.0:1.0:0.0:0.0	.	281;281;281	O75182-2;O75182;O75182-3	.;SIN3B_HUMAN;.	S	281	ENSP00000369131:P281S;ENSP00000248054:P281S	ENSP00000248054:P281S	P	+	1	0	SIN3B	16823337	0.982000	0.34865	0.071000	0.20095	0.270000	0.26580	5.249000	0.65427	2.391000	0.81399	0.655000	0.94253	CCC		0.677	SIN3B-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000462846.1	NM_015260		13	31	0	0	0	1	0	13	31					T	16962337	C	T	16962337	3	4	302	1	0	0	0	0	1	0	0	0	14326	507	18	3	863	3	SIN3B	19	16962337	Missense_Mutation	SNP	C	TCGA-KC-A7FA-01A-21D-A33T-08	1840521	16962337	42166646	49	14441											
RYR1	6261	broad.mit.edu	37	chr19	39003004	39003004	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgggcaaggtgtcgcaggCgcgcacccaggtgaaaggcg	8	4	18	11	4	0	1	0	1	0	0	1	1	0	1	1	5	0	4	1	5	2	0	rs2915960	byFrequency	TCGA-KC-A7FA-01A-21D-A33T-08	TCGA-KC-A7FA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b63f37c1-b80c-44ba-9d98-1e621ee926d9	a792ba94-7862-4a44-9d3f-fbc56914f409	g.chr19:39003004C>T	ENST00000359596.3	+	63	9353	c.9353C>T	c.(9352-9354)gCg>gTg	p.A3118V	RYR1_ENST00000360985.3_Missense_Mutation_p.A3118V|RYR1_ENST00000355481.4_Missense_Mutation_p.A3118V			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	3118			A -> V (in dbSNP:rs2915960).		calcium ion transport (GO:0006816)|cellular response to caffeine (GO:0071313)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|ossification involved in bone maturation (GO:0043931)|outflow tract morphogenesis (GO:0003151)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|skeletal muscle fiber development (GO:0048741)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|integral component of plasma membrane (GO:0005887)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|voltage-gated calcium channel activity (GO:0005245)			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	GTGTCGCAGGCGCGCACCCAG	0.637													C|||	10	0.00199681	0.0076	0	5008	,	,		16918	0		0	False		,,,				2504	0					ENST00000355481.4																			0				NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285						c.(9352-9354)gCg>gTg		ryanodine receptor 1 (skeletal)	Dantrolene(DB01219)	C	VAL/ALA,VAL/ALA	20,4386	27.2+/-55.0	0,20,2183	66	60	62		9353,9353	3.3	0.2	19	dbSNP_101	62	0,8600		0,0,4300	yes	missense,missense	RYR1	NM_000540.2,NM_001042723.1	64,64	0,20,6483	TT,TC,CC		0.0,0.4539,0.1538	possibly-damaging,possibly-damaging	3118/5039,3118/5034	39003004	20,12986	2203	4300	6503	SO:0001583	missense	6261				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr19:39003004C>T	J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"Ion channels / Ryanodine receptors"	10483	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 137"	180901	"central core disease of muscle"	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.9353C>T	19.37:g.39003004C>T	ENSP00000352608:p.Ala3118Val					RYR1_ENST00000359596.3_Missense_Mutation_p.A3118V|RYR1_ENST00000360985.3_Missense_Mutation_p.A3118V	p.A3118V	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		63	9484	+	all_cancers(60;7.91e-06)		3118		A -> V (in dbSNP:rs2915960).			Q16314|Q16368|Q9NPK1|Q9P1U4	Missense_Mutation	SNP	ENST00000359596.3	37	c.9353C>T	CCDS33011.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	C	15.84	2.951696	0.53186	0.004539	0.0	ENSG00000196218	ENST00000359596;ENST00000355481;ENST00000360985;ENST00000538206	D;D;D	0.96459	-4.01;-4.02;-4.02	4.36	3.31	0.37934	.	0.471743	0.17735	U	0.163775	D	0.90913	0.7144	N	0.19112	0.55	0.28953	N	0.890264	B;B;B	0.21309	0.054;0.03;0.017	B;B;B	0.12156	0.007;0.004;0.002	T	0.80299	-0.1441	10	0.13853	T	0.58	.	13.9434	0.64069	0.0:0.8464:0.1536:0.0	rs2915960;rs2915960	3118;3118;3118	P21817-3;P21817-2;P21817	.;.;RYR1_HUMAN	V	3118;3118;3118;38	ENSP00000352608:A3118V;ENSP00000347667:A3118V;ENSP00000354254:A3118V	ENSP00000347667:A3118V	A	+	2	0	RYR1	43694844	0.975000	0.34042	0.225000	0.23894	0.989000	0.77384	2.375000	0.44283	1.028000	0.39785	0.591000	0.81541	GCG		0.637	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1			7	36	0	0	0	1	0	7	36					T	39003004	C	T	39003004	3	4	302	1	0	0	0	0	1	0	0	0	13768	768	27	1	9603	1	RYR1	19	39003004	Missense_Mutation	SNP	C	TCGA-KC-A7FA-01A-21D-A33T-08	22040667	39003004	20125979	50	14442											
AKT2	208	broad.mit.edu	37	chr19	40745988	40745988	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ctggtgttctggaggacccgGctctcggtgactgtgtgagc	4	11	16	10	2	2	2	0	2	2	0	3	4	2	4	1	5	1	2	1	5	0	1			TCGA-KC-A7FA-01A-21D-A33T-08	TCGA-KC-A7FA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b63f37c1-b80c-44ba-9d98-1e621ee926d9	a792ba94-7862-4a44-9d3f-fbc56914f409	g.chr19:40745988G>A	ENST00000392038.2	-	7	901	c.603C>T	c.(601-603)agC>agT	p.S201S	AKT2_ENST00000424901.1_Silent_p.S201S|AKT2_ENST00000311278.6_Silent_p.S201S|AKT2_ENST00000579047.1_Silent_p.S139S	NM_001243027.1|NM_001243028.1|NM_001626.4	NP_001229956.1|NP_001229957.1|NP_001617.1	P31751	AKT2_HUMAN	v-akt murine thymoma viral oncogene homolog 2	201	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of Ral GTPase activity (GO:0032859)|apoptotic process (GO:0006915)|carbohydrate transport (GO:0008643)|cellular protein modification process (GO:0006464)|cellular response to insulin stimulus (GO:0032869)|fat cell differentiation (GO:0045444)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|insulin receptor signaling pathway (GO:0008286)|intracellular protein transmembrane transport (GO:0065002)|mammary gland epithelial cell differentiation (GO:0060644)|membrane organization (GO:0061024)|negative regulation of plasma membrane long-chain fatty acid transport (GO:0010748)|peripheral nervous system myelin maintenance (GO:0032287)|positive regulation of cell motility (GO:2000147)|positive regulation of fatty acid beta-oxidation (GO:0032000)|positive regulation of glucose import (GO:0046326)|positive regulation of glucose import in response to insulin stimulus (GO:2001275)|positive regulation of glucose metabolic process (GO:0010907)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of vesicle fusion (GO:0031340)|protein localization to plasma membrane (GO:0072659)|regulation of cell cycle arrest (GO:0071156)|regulation of cell migration (GO:0030334)|regulation of translation (GO:0006417)|signal transduction (GO:0007165)	cell cortex (GO:0005938)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|cervix(1)|kidney(3)|large_intestine(9)|lung(10)|prostate(2)|skin(1)	27			Lung(22;0.000499)			GGAGGACCCGGCTCTCGGTGA	0.632			A		"ovarian, pancreatic "																																	ENST00000392038.2				Dom	yes		19	19q13.1-q13.2	208	A	v-akt murine thymoma viral oncogene homolog 2			E			"ovarian, pancreatic "		0				breast(1)|cervix(1)|kidney(3)|large_intestine(9)|lung(10)|prostate(2)|skin(1)	27						c.(601-603)agC>agT		v-akt murine thymoma viral oncogene homolog 2							188	178	181					19																	40745988		2203	4300	6503	SO:0001819	synonymous_variant	208				insulin receptor signaling pathway|negative regulation of plasma membrane long-chain fatty acid transport|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process	cytosol|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr19:40745988G>A	M77198	CCDS12552.1	19q13.1-q13.2	2013-01-10			ENSG00000105221	ENSG00000105221	2.7.11.1	"Pleckstrin homology (PH) domain containing"	392	protein-coding gene	gene with protein product		164731				1409633	Standard	NM_001626		Approved		uc002onf.3	P31751	OTTHUMG00000137375	ENST00000392038.2:c.603C>T	19.37:g.40745988G>A						AKT2_ENST00000424901.1_Silent_p.S201S|AKT2_ENST00000579047.1_Silent_p.S139S|AKT2_ENST00000311278.6_Silent_p.S201S	p.S201S	NM_001243027.1|NM_001243028.1|NM_001626.4	NP_001229956.1|NP_001229957.1|NP_001617.1	P31751	AKT2_HUMAN	Lung(22;0.000499)		7	901	-			201			Protein kinase.		B2RBD8|Q05BV0|Q0VAN0|Q0VAN1|Q68GC0	Silent	SNP	ENST00000392038.2	37	c.603C>T	CCDS12552.1																																																																																				0.632	AKT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268029.1	NM_001626		7	169	0	0	0	1	0	7	169					A	40745988	G	A	40745988	2	1	302	1	0	0	0	0	0	0	0	1	480	1194	42	3		3	AKT2	19	40745988	Silent	SNP	G	TCGA-KC-A7FA-01A-21D-A33T-08	1742984	40745988	18382995	51	14443											
SSTR4	6754	broad.mit.edu	37	chr20	23016216	23016216	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agtagcgctccggcggaggcGgaggaggcggtggcggggcc	5	3	23	10	6	0	0	0	0	0	0	1	3	1	3	2	10	1	2	2	10	1	1			TCGA-KC-A7FA-01A-21D-A33T-08	TCGA-KC-A7FA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b63f37c1-b80c-44ba-9d98-1e621ee926d9	a792ba94-7862-4a44-9d3f-fbc56914f409	g.chr20:23016216G>A	ENST00000255008.3	+	1	160	c.96G>A	c.(94-96)gcG>gcA	p.A32A	RP4-753D10.3_ENST00000440921.1_RNA	NM_001052.2	NP_001043.2	P31391	SSR4_HUMAN	somatostatin receptor 4	32					arachidonic acid metabolic process (GO:0019369)|cell migration (GO:0016477)|cellular response to glucocorticoid stimulus (GO:0071385)|forebrain development (GO:0030900)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|negative regulation of cAMP metabolic process (GO:0030815)|negative regulation of cell proliferation (GO:0008285)|positive regulation of MAPK cascade (GO:0043410)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	somatostatin receptor activity (GO:0004994)			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)	32	Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118)					CGGCGGAGGCGGAGGAGGCGG	0.751																																					Esophageal Squamous(15;850 1104 16640)	ENST00000255008.3																			0				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)	32						c.(94-96)gcG>gcA		somatostatin receptor 4							15	22	20					20																	23016216		1991	4144	6135	SO:0001819	synonymous_variant	6754				G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cell proliferation	integral to plasma membrane	somatostatin receptor activity	g.chr20:23016216G>A		CCDS42856.1	20p11.21	2014-07-11			ENSG00000132671	ENSG00000132671		"GPCR / Class A : Somatostatin receptors"	11333	protein-coding gene	gene with protein product		182454				8483934	Standard	NM_001052		Approved		uc002wsr.2	P31391	OTTHUMG00000032054	ENST00000255008.3:c.96G>A	20.37:g.23016216G>A						RP4-753D10.3_ENST00000440921.1_RNA	p.A32A	NM_001052.2	NP_001043.2	P31391	SSR4_HUMAN			1	160	+	Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118)		32					Q17RM1|Q17RM3|Q9UIY1	Silent	SNP	ENST00000255008.3	37	c.96G>A	CCDS42856.1																																																																																				0.751	SSTR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078308.1			5	42	0	0	0	1	0	5	42					A	23016216	G	A	23016216	2	1	302	1	0	0	0	0	0	0	0	1	15199	1103	39	2		2	SSTR4	20	23016216	Silent	SNP	G	TCGA-KC-A7FA-01A-21D-A33T-08		23016216	40009304	52	14444											
USP11	8237	broad.mit.edu	37	chrX	47099251	47099251	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gtagaactgctgcttgtccgGcacaatgatttgggcaaatc	10	11	11	9	1	0	2	0	1	0	1	2	2	1	2	1	2	3	5	1	2	4	3			TCGA-KC-A7FA-01A-21D-A33T-08	TCGA-KC-A7FA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b63f37c1-b80c-44ba-9d98-1e621ee926d9	a792ba94-7862-4a44-9d3f-fbc56914f409	g.chrX:47099251G>A	ENST00000218348.3	+	4	609	c.609G>A	c.(607-609)cgG>cgA	p.R203R	USP11_ENST00000377107.2_Silent_p.R160R	NM_004651.3	NP_004642.2	P51784	UBP11_HUMAN	ubiquitin specific peptidase 11	203					protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|ubiquitin-specific protease activity (GO:0004843)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(14)|ovary(3)|pancreas(1)|stomach(1)	40						TGCTTGTCCGGCACAATGATT	0.498																																						ENST00000377107.2																			0				breast(2)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(14)|ovary(3)|pancreas(1)|stomach(1)	40						c.(478-480)cgG>cgA		ubiquitin specific peptidase 11							214	155	175					X																	47099251		2203	4300	6503	SO:0001819	synonymous_variant	8237				protein deubiquitination|ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chrX:47099251G>A	U44839	CCDS14277.1	Xp11.23	2008-02-05	2005-08-08		ENSG00000102226	ENSG00000102226		"Ubiquitin-specific peptidases"	12609	protein-coding gene	gene with protein product		300050	"ubiquitin specific protease 11"			12838346	Standard	XM_005272674		Approved	UHX1	uc004dhp.3	P51784	OTTHUMG00000021437	ENST00000218348.3:c.609G>A	X.37:g.47099251G>A						USP11_ENST00000218348.3_Silent_p.R203R	p.R160R			P51784	UBP11_HUMAN			4	834	+			203	A -> R (in Ref. 3; BAC20463).		DUSP.		B2RTX1|Q8IUG6|Q9BWE1	Silent	SNP	ENST00000218348.3	37	c.480G>A	CCDS14277.1																																																																																				0.498	USP11-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_004651		3	46	0	0	0	1	0	3	46					A	47099251	G	A	47099251	2	1	302	1	0	0	0	0	0	0	0	1	17039	1190	42	3		3	USP11	23	47099251	Silent	SNP	G	TCGA-KC-A7FA-01A-21D-A33T-08		47099251	108171309	53	14445											
AADACL4	343066	broad.mit.edu	37	chr1	12711190	12711190	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gctccatgcccaaatttattCgttttttacatgatagcgtg	9	16	7	9	2	0	1	0	1	0	0	2	1	1	1	2	0	3	2	2	0	4	7	rs375635678		TCGA-KC-A7FD-01A-11D-A33T-08	TCGA-KC-A7FD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f255429b-c98f-4c60-ad83-3b67ddb553c5	0958a78b-72c4-4579-8811-b61a2b1178de	g.chr1:12711190C>T	ENST00000376221.1	+	2	217	c.217C>T	c.(217-219)Cgt>Tgt	p.R73C		NM_001013630.1	NP_001013652.1	Q5VUY2	ADCL4_HUMAN	arylacetamide deacetylase-like 4	73						integral component of membrane (GO:0016021)	carboxylic ester hydrolase activity (GO:0052689)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)	17	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.000937)|all_lung(284;0.00122)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.81e-07)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0384)		CAAATTTATTCGTTTTTTACA	0.458																																						ENST00000376221.1																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)	17						c.(217-219)Cgt>Tgt		arylacetamide deacetylase-like 4		C	CYS/ARG	0,4406		0,0,2203	95	94	95		217	0.7	0	1		95	1,8599	1.2+/-3.3	0,1,4299	no	missense	AADACL4	NM_001013630.1	180	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	73/408	12711190	1,13005	2203	4300	6503	SO:0001583	missense	343066					integral to membrane	carboxylesterase activity	g.chr1:12711190C>T		CCDS30590.1	1p36.21	2010-12-14			ENSG00000204518	ENSG00000204518			32038	protein-coding gene	gene with protein product							Standard	XM_006710608		Approved	OTTHUMG00000001889	uc001auf.3	Q5VUY2	OTTHUMG00000001889	ENST00000376221.1:c.217C>T	1.37:g.12711190C>T	ENSP00000365395:p.Arg73Cys						p.R73C	NM_001013630.1	NP_001013652.1	Q5VUY2	ADCL4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.81e-07)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0384)	2	217	+	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.000937)|all_lung(284;0.00122)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)	73						Missense_Mutation	SNP	ENST00000376221.1	37	c.217C>T	CCDS30590.1	.	.	.	.	.	.	.	.	.	.	C	9.082	0.999634	0.19121	0.0	1.16E-4	ENSG00000204518	ENST00000376221	T	0.04970	3.52	4.82	0.712	0.18167	.	0.442912	0.22014	N	0.065833	T	0.03608	0.0103	N	0.17474	0.49	0.09310	N	1	B	0.28636	0.218	B	0.20955	0.032	T	0.39860	-0.9593	10	0.42905	T	0.14	-0.0177	8.3611	0.32359	0.0:0.6496:0.0:0.3504	.	73	Q5VUY2	ADCL4_HUMAN	C	73	ENSP00000365395:R73C	ENSP00000365395:R73C	R	+	1	0	AADACL4	12633777	0.000000	0.05858	0.000000	0.03702	0.093000	0.18481	0.702000	0.25631	-0.144000	0.11314	0.561000	0.74099	CGT		0.458	AADACL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005328.1	NM_001013630		4	108	0	0	0	1	0	4	108					T	12711190	C	T	12711190	3	4	303	1	0	0	0	0	1	0	0	0	13	884	31	2	223	2	AADACL4	1	12711190	Missense_Mutation	SNP	C	TCGA-KC-A7FD-01A-11D-A33T-08		12711190	236539431	1	14446											
PRAMEF1	65121	broad.mit.edu	37	chr1	12854346	12854346	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagctggtcaattatctaacGccgattaaatatctcagaaa	16	11	6	8	2	3	1	2	0	2	1	4	2	3	1	1	1	2	1	1	1	8	4	rs577183721	byFrequency	TCGA-KC-A7FD-01A-11D-A33T-08	TCGA-KC-A7FD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f255429b-c98f-4c60-ad83-3b67ddb553c5	0958a78b-72c4-4579-8811-b61a2b1178de	g.chr1:12854346G>A	ENST00000332296.7	+	3	673	c.570G>A	c.(568-570)acG>acA	p.T190T	PRAMEF1_ENST00000400814.3_5'Flank	NM_023013.2	NP_075389.1	O95521	PRAM1_HUMAN	PRAME family member 1	190					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)					cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		ATTATCTAACGCCGATTAAAT	0.408													g|||	3	0.000599042	0	0	5008	,	,		28156	0		0	False		,,,				2504	0.0031					ENST00000332296.7																			0				cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35						c.(568-570)acG>acA		PRAME family member 1							197	211	206					1																	12854346		2203	4300	6503	SO:0001819	synonymous_variant	65121							g.chr1:12854346G>A	AL049686	CCDS148.1	1p36.21	2013-01-17			ENSG00000116721	ENSG00000116721		"-"	28840	protein-coding gene	gene with protein product							Standard	NM_023013		Approved		uc001auj.2	O95521	OTTHUMG00000001928	ENST00000332296.7:c.570G>A	1.37:g.12854346G>A							p.T190T	NM_023013.2	NP_075389.1	O95521	PRAM1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)	3	673	+	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)	190					Q9UQP2	Silent	SNP	ENST00000332296.7	37	c.570G>A	CCDS148.1																																																																																				0.408	PRAMEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005458.1	NM_023013		9	576	0	0	0	1	0	9	576					A	12854346	G	A	12854346	2	1	303	1	0	0	0	0	0	0	0	1	12425	1074	38	1		1	PRAMEF1	1	12854346	Silent	SNP	G	TCGA-KC-A7FD-01A-11D-A33T-08	143156	12854346	236396275	2	14447											
KAZ	23254	broad.mit.edu	37	chr1	15386729	15386729	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atctccgacgcatctgccgcCgaaggcgaccggtcgtccac	7	6	11	17	7	2	0	0	0	2	0	5	3	3	0	5	2	1	1	5	2	1	0			TCGA-KC-A7FD-01A-11D-A33T-08	TCGA-KC-A7FD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f255429b-c98f-4c60-ad83-3b67ddb553c5	0958a78b-72c4-4579-8811-b61a2b1178de	g.chr1:15386729C>T	ENST00000376030.2	+	6	1272	c.978C>T	c.(976-978)gcC>gcT	p.A326A	KAZN_ENST00000361144.5_Silent_p.A320A|KAZN_ENST00000400797.3_Silent_p.A232A|KAZN_ENST00000503743.1_Silent_p.A326A|KAZN_ENST00000422387.2_Silent_p.A326A|KAZN_ENST00000400798.2_Silent_p.A232A	NM_201628.2	NP_963922.2	Q674X7	KAZRN_HUMAN	kazrin, periplakin interacting protein	326	Interaction with PPL.				keratinization (GO:0031424)	cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|desmosome (GO:0030057)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(6)|ovary(1)|prostate(2)	25						CATCTGCCGCCGAAGGCGACC	0.672																																						ENST00000376030.2																			0				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(6)|ovary(1)|prostate(2)	25						c.(976-978)gcC>gcT		kazrin, periplakin interacting protein							88	89	89					1																	15386729		2203	4300	6503	SO:0001819	synonymous_variant	23254				keratinization	cornified envelope|cytoplasm|desmosome|nucleus		g.chr1:15386729C>T	AY505119	CCDS30604.1, CCDS41267.1, CCDS152.2, CCDS41268.1	1p36.21	2014-02-12	2011-01-31		ENSG00000189337	ENSG00000189337		"Sterile alpha motif (SAM) domain containing"	29173	protein-coding gene	gene with protein product						15337775, 18840647	Standard	NM_015209		Approved	KIAA1026, KAZRIN, FLJ43806	uc001avm.4	Q674X7	OTTHUMG00000002042	ENST00000376030.2:c.978C>T	1.37:g.15386729C>T						KAZN_ENST00000361144.5_Silent_p.A320A|KAZN_ENST00000400797.3_Silent_p.A232A|KAZN_ENST00000422387.2_Silent_p.A326A|KAZN_ENST00000503743.1_Silent_p.A326A|KAZN_ENST00000400798.2_Silent_p.A232A	p.A326A	NM_201628.2	NP_963922.2	Q674X7	KAZRN_HUMAN			6	1272	+			326			Interaction with PPL.		B0QYQ0|B1AK78|Q5TGF1|Q674X4|Q674X6|Q6ZUD1|Q8IYN7|Q8N409|Q9UIL2|Q9UPX4	Silent	SNP	ENST00000376030.2	37	c.978C>T	CCDS152.2																																																																																				0.672	KAZN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005690.2	NM_001017999		8	102	0	0	0	1	0	8	102					T	15386729	C	T	15386729	2	4	303	1	0	0	0	0	0	0	0	1	7988	639	23	2		2	KAZ	1	15386729	Silent	SNP	C	TCGA-KC-A7FD-01A-11D-A33T-08	2532383	15386729	233863892	3	14448											
PTPRU	10076	broad.mit.edu	37	chr1	29587401	29587401	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgggccacccctcatcagccGcaccaaatgcgcaggtgggt	8	6	12	15	2	2	0	2	0	0	0	2	0	2	0	5	3	2	2	5	3	1	0			TCGA-KC-A7FD-01A-11D-A33T-08	TCGA-KC-A7FD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f255429b-c98f-4c60-ad83-3b67ddb553c5	0958a78b-72c4-4579-8811-b61a2b1178de	g.chr1:29587401G>A	ENST00000345512.3	+	7	1259	c.1130G>A	c.(1129-1131)cGc>cAc	p.R377H	PTPRU_ENST00000323874.8_Missense_Mutation_p.R377H|PTPRU_ENST00000356870.3_Missense_Mutation_p.R377H|PTPRU_ENST00000428026.2_Missense_Mutation_p.R377H|PTPRU_ENST00000460170.2_Missense_Mutation_p.R377H|PTPRU_ENST00000373779.3_Missense_Mutation_p.R377H	NM_005704.4	NP_005695.3	Q92729	PTPRU_HUMAN	protein tyrosine phosphatase, receptor type, U	377	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				canonical Wnt signaling pathway (GO:0060070)|cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|homotypic cell-cell adhesion (GO:0034109)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|organ regeneration (GO:0031100)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|protein localization to cell surface (GO:0034394)|response to glucocorticoid (GO:0051384)|single organismal cell-cell adhesion (GO:0016337)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	cell-cell junction (GO:0005911)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(4)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(26)|ovary(1)|prostate(3)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	79		Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871)		CTCATCAGCCGCACCAAATGC	0.677																																						ENST00000373779.3																			0				breast(4)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(26)|ovary(1)|prostate(3)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	79						c.(1129-1131)cGc>cAc		protein tyrosine phosphatase, receptor type, U							24	26	25					1																	29587401		2191	4283	6474	SO:0001583	missense	10076				canonical Wnt receptor signaling pathway|cell differentiation|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transmembrane receptor protein tyrosine phosphatase signaling pathway	cell-cell junction|integral to plasma membrane	beta-catenin binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr1:29587401G>A	U71075	CCDS334.1, CCDS335.1, CCDS44098.1, CCDS44098.2, CCDS53290.1	1p35.3	2013-02-11			ENSG00000060656	ENSG00000060656		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Fibronectin type III domain containing"	9683	protein-coding gene	gene with protein product	"pi R-PTP-Psi"	602454				8700514, 9434160	Standard	NM_133178		Approved	PTPRO, hPTP-J, PCP-2, FMI, PTP	uc001bru.3	Q92729	OTTHUMG00000003699	ENST00000345512.3:c.1130G>A	1.37:g.29587401G>A	ENSP00000334941:p.Arg377His					PTPRU_ENST00000428026.2_Missense_Mutation_p.R377H|PTPRU_ENST00000345512.3_Missense_Mutation_p.R377H|PTPRU_ENST00000356870.3_Missense_Mutation_p.R377H|PTPRU_ENST00000460170.2_Missense_Mutation_p.R377H|PTPRU_ENST00000323874.8_Missense_Mutation_p.R377H	p.R377H	NM_001195001.1|NM_133178.3	NP_001181930.1|NP_573439.2	Q92729	PTPRU_HUMAN		Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871)	7	1259	+		Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)	377			Fibronectin type-III 1.		A6H8L1|O00197|P78399|Q59HA4|Q5SYU4|Q5SYU5|Q92735|Q92850	Missense_Mutation	SNP	ENST00000345512.3	37	c.1130G>A	CCDS334.1	.	.	.	.	.	.	.	.	.	.	G	19.40	3.819610	0.71028	.	.	ENSG00000060656	ENST00000345512;ENST00000373779;ENST00000356870;ENST00000323874;ENST00000428026;ENST00000460170	D;D;D;D;D;D	0.95656	-3.77;-3.77;-3.77;-3.77;-3.77;-3.77	5.22	5.22	0.72569	Fibronectin, type III (2);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000002	D	0.94614	0.8264	M	0.83384	2.64	0.58432	D	0.999999	B;B;B;B;B	0.31485	0.325;0.325;0.325;0.218;0.218	B;B;B;B;B	0.15484	0.013;0.013;0.013;0.006;0.006	D	0.93626	0.6952	9	.	.	.	.	17.7715	0.88494	0.0:0.0:1.0:0.0	.	377;377;377;377;377	Q92729-3;Q92729-4;Q92729-2;E9PH42;Q92729	.;.;.;.;PTPRU_HUMAN	H	377	ENSP00000334941:R377H;ENSP00000362884:R377H;ENSP00000349333:R377H;ENSP00000314987:R377H;ENSP00000392332:R377H;ENSP00000432906:R377H	.	R	+	2	0	PTPRU	29459988	1.000000	0.71417	1.000000	0.80357	0.606000	0.37113	9.860000	0.99555	2.418000	0.82041	0.462000	0.41574	CGC		0.677	PTPRU-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010447.1			19	19	0	0	0	1	0	19	19					A	29587401	G	A	29587401	3	1	303	1	0	0	0	0	1	0	0	0	12813	1087	38	1	1156	1	PTPRU	1	29587401	Missense_Mutation	SNP	G	TCGA-KC-A7FD-01A-11D-A33T-08	14200672	29587401	219663220	4	14449											
ARHGEF2	9181	broad.mit.edu	37	chr1	155931510	155931510	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ccatcgtggatgagtttgcgCctcagaagttcctctcggcc	6	11	11	13	3	2	2	1	1	1	1	5	3	3	3	4	2	1	2	4	2	1	2			TCGA-KC-A7FD-01A-11D-A33T-08	TCGA-KC-A7FD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f255429b-c98f-4c60-ad83-3b67ddb553c5	0958a78b-72c4-4579-8811-b61a2b1178de	g.chr1:155931510C>G	ENST00000361247.4	-	11	1509	c.1410G>C	c.(1408-1410)agG>agC	p.R470S	ARHGEF2_ENST00000368315.4_Missense_Mutation_p.R471S|ARHGEF2_ENST00000313695.7_Missense_Mutation_p.R442S|ARHGEF2_ENST00000313667.4_Missense_Mutation_p.R469S|ARHGEF2_ENST00000477754.2_Intron|ARHGEF2_ENST00000368316.1_Missense_Mutation_p.R442S|ARHGEF2_ENST00000462460.2_Missense_Mutation_p.R515S	NM_001162383.1|NM_001162384.1	NP_001155855.1|NP_001155856.1	Q92974	ARHG2_HUMAN	Rho/Rac guanine nucleotide exchange factor (GEF) 2	470					actin filament organization (GO:0007015)|apoptotic signaling pathway (GO:0097190)|cell morphogenesis (GO:0000902)|cellular hyperosmotic response (GO:0071474)|cellular response to muramyl dipeptide (GO:0071225)|cellular response to tumor necrosis factor (GO:0071356)|establishment of mitotic spindle orientation (GO:0000132)|innate immune response (GO:0045087)|intracellular protein transport (GO:0006886)|mitotic nuclear division (GO:0007067)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of intrinsic apoptotic signaling pathway in response to osmotic stress (GO:1902219)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of necroptotic process (GO:0060546)|negative regulation of neurogenesis (GO:0050768)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of cell proliferation (GO:0042127)|regulation of Rho protein signal transduction (GO:0035023)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|neuronal cell body (GO:0043025)|protein complex (GO:0043234)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)|vesicle (GO:0031982)	microtubule binding (GO:0008017)|Rac GTPase binding (GO:0048365)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|Rho GTPase binding (GO:0017048)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			breast(4)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|skin(2)	40	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)					TGAGTTTGCGCCTCAGAAGTT	0.602																																					Melanoma(178;35 2768 6610 28839)	ENST00000368316.1																			0				breast(4)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|skin(2)	40						c.(1324-1326)agG>agC		Rho/Rac guanine nucleotide exchange factor (GEF) 2							68	66	67					1																	155931510		2203	4300	6503	SO:0001583	missense	9181				actin filament organization|apoptosis|cell division|cell morphogenesis|induction of apoptosis by extracellular signals|intracellular protein transport|mitosis|negative regulation of microtubule depolymerization|nerve growth factor receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|regulation of cell proliferation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|Golgi apparatus|microtubule|ruffle membrane|spindle|tight junction	microtubule binding|Rac GTPase binding|Rac guanyl-nucleotide exchange factor activity|zinc ion binding	g.chr1:155931510C>G	AB014551	CCDS1125.1, CCDS53375.1, CCDS53376.1	1q21-q22	2013-01-10	2009-06-12		ENSG00000116584	ENSG00000116584		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	682	protein-coding gene	gene with protein product		607560	"rho/rac guanine nucleotide exchange factor (GEF) 2"			9857026, 9734811	Standard	NM_004723		Approved	LFP40, GEF-H1, KIAA0651, P40	uc001fmt.2	Q92974	OTTHUMG00000017464	ENST00000361247.4:c.1410G>C	1.37:g.155931510C>G	ENSP00000354837:p.Arg470Ser					ARHGEF2_ENST00000368315.3_Missense_Mutation_p.R471S|ARHGEF2_ENST00000361247.4_Missense_Mutation_p.R470S|ARHGEF2_ENST00000313667.4_Missense_Mutation_p.R469S|ARHGEF2_ENST00000313695.7_Missense_Mutation_p.R442S	p.R442S			Q92974	ARHG2_HUMAN			15	1796	-	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		470					D3DVA6|O75142|Q15079|Q5VY92|Q8TDA3|Q8WUG4|Q9H023	Missense_Mutation	SNP	ENST00000361247.4	37	c.1326G>C	CCDS53376.1	.	.	.	.	.	.	.	.	.	.	C	19.79	3.893267	0.72524	.	.	ENSG00000116584	ENST00000313695;ENST00000361247;ENST00000368315;ENST00000368316;ENST00000313667	T;T;T;T;T	0.62105	0.05;0.05;0.05;0.05;0.05	4.95	1.69	0.24217	Pleckstrin homology-type (1);	0.000000	0.44285	D	0.000478	T	0.59128	0.2171	L	0.55481	1.735	0.40437	D	0.98	P;D;D	0.76494	0.938;0.999;0.983	P;D;P	0.78314	0.771;0.991;0.885	T	0.57230	-0.7847	10	0.30854	T	0.27	-31.5745	8.7245	0.34460	0.2952:0.5607:0.1441:0.0	.	514;470;469	D3DVA5;Q92974;Q92974-2	.;ARHG2_HUMAN;.	S	442;470;471;442;469	ENSP00000315325:R442S;ENSP00000354837:R470S;ENSP00000357298:R471S;ENSP00000357299:R442S;ENSP00000314787:R469S	ENSP00000314787:R469S	R	-	3	2	ARHGEF2	154198134	0.133000	0.22466	1.000000	0.80357	0.955000	0.61496	-0.247000	0.08866	0.722000	0.32252	0.655000	0.94253	AGG		0.602	ARHGEF2-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000046204.2	NM_004723		23	33	0	0	0	1	0	23	33					G	155931510	C	G	155931510	3	3	303	1	0	0	0	0	1	0	0	0	903	738	26	5	1598	5	ARHGEF2	1	155931510	Missense_Mutation	SNP	C	TCGA-KC-A7FD-01A-11D-A33T-08	126344109	155931510	93319111	5	14450											
OR10K2	391107	broad.mit.edu	37	chr1	158390007	158390007	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cagagaggatgtgaacatagGacaccaagatcaacaataag	19	5	10	7	0	1	3	1	1	0	2	1	6	1	5	1	2	2	0	1	2	6	2			TCGA-KC-A7FD-01A-11D-A33T-08	TCGA-KC-A7FD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f255429b-c98f-4c60-ad83-3b67ddb553c5	0958a78b-72c4-4579-8811-b61a2b1178de	g.chr1:158390007G>T	ENST00000314902.2	-	1	649	c.650C>A	c.(649-651)tCc>tAc	p.S217Y		NM_001004476.1	NP_001004476.1	Q6IF99	O10K2_HUMAN	olfactory receptor, family 10, subfamily K, member 2	217						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(19)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_hematologic(112;0.0378)					GTGAACATAGGACACCAAGAT	0.448																																						ENST00000314902.2																			0				NS(1)|breast(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(19)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(649-651)tCc>tAc		olfactory receptor, family 10, subfamily K, member 2							152	141	144					1																	158390007		2203	4300	6503	SO:0001583	missense	391107				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158390007G>T	AB065642	CCDS30896.1	1q23.1	2012-08-09			ENSG00000180708	ENSG00000180708		"GPCR / Class A : Olfactory receptors"	14826	protein-coding gene	gene with protein product							Standard	NM_001004476		Approved		uc010pii.2	Q6IF99	OTTHUMG00000019638	ENST00000314902.2:c.650C>A	1.37:g.158390007G>T	ENSP00000324251:p.Ser217Tyr						p.S217Y	NM_001004476.1	NP_001004476.1	Q6IF99	O10K2_HUMAN			1	649	-	all_hematologic(112;0.0378)		217						Missense_Mutation	SNP	ENST00000314902.2	37	c.650C>A	CCDS30896.1	.	.	.	.	.	.	.	.	.	.	g	12.19	1.863787	0.32884	.	.	ENSG00000180708	ENST00000314902	T	0.46063	0.88	4.13	4.13	0.48395	GPCR, rhodopsin-like superfamily (1);	0.000000	0.45867	D	0.000322	T	0.72669	0.3489	H	0.97390	3.995	0.43330	D	0.995364	D	0.89917	1.0	D	0.91635	0.999	D	0.83575	0.0114	10	0.87932	D	0	.	15.662	0.77193	0.0:0.0:1.0:0.0	.	217	Q6IF99	O10K2_HUMAN	Y	217	ENSP00000324251:S217Y	ENSP00000324251:S217Y	S	-	2	0	OR10K2	156656631	1.000000	0.71417	0.276000	0.24689	0.073000	0.16967	7.209000	0.77916	2.285000	0.76669	0.461000	0.40582	TCC		0.448	OR10K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051854.1	NM_001004476		24	39	1	0	1.55469e-16	1	1.71712e-16	24	39					T	158390007	G	T	158390007	3	4	303	1	0	0	0	0	1	0	0	0	10914	1174	41	5	290	5	OR10K2	1	158390007	Missense_Mutation	SNP	G	TCGA-KC-A7FD-01A-11D-A33T-08	2458497	158390007	90860614	6	14451											
SPTA1	6708	broad.mit.edu	37	chr1	158639228	158639228	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcatcatctgccaactttttCttcttgttgatccagttctt	6	20	4	11	0	6	1	2	1	4	0	7	1	7	1	2	0	2	2	2	0	1	7			TCGA-KC-A7FD-01A-11D-A33T-08	TCGA-KC-A7FD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f255429b-c98f-4c60-ad83-3b67ddb553c5	0958a78b-72c4-4579-8811-b61a2b1178de	g.chr1:158639228C>G	ENST00000368147.4	-	14	1983	c.1803G>C	c.(1801-1803)aaG>aaC	p.K601N		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	601					actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					CCAACTTTTTCTTCTTGTTGA	0.423																																						ENST00000368148.3																			0				NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307						c.(1801-1803)aaG>aaC		spectrin, alpha, erythrocytic 1 (elliptocytosis 2)							283	264	270					1																	158639228		1913	4130	6043	SO:0001583	missense	6708				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	g.chr1:158639228C>G	M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"EF-hand domain containing"	11272	protein-coding gene	gene with protein product	"elliptocytosis 2"	182860	"spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.1803G>C	1.37:g.158639228C>G	ENSP00000357129:p.Lys601Asn					SPTA1_ENST00000368147.3_Missense_Mutation_p.K601N	p.K601N	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN			14	1983	-	all_hematologic(112;0.0378)		601					Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Missense_Mutation	SNP	ENST00000368147.4	37	c.1803G>C	CCDS41423.1	.	.	.	.	.	.	.	.	.	.	C	18.79	3.699627	0.68501	.	.	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.56941	0.43;0.43	4.72	0.605	0.17553	.	0.000000	0.33477	N	0.004866	T	0.65270	0.2675	M	0.91920	3.255	0.45541	D	0.998497	D	0.89917	1.0	D	0.87578	0.998	T	0.67914	-0.5547	10	0.66056	D	0.02	.	8.131	0.31027	0.0:0.6397:0.0:0.3603	.	601	P02549	SPTA1_HUMAN	N	601	ENSP00000357130:K601N;ENSP00000357129:K601N	ENSP00000357129:K601N	K	-	3	2	SPTA1	156905852	0.997000	0.39634	0.998000	0.56505	0.953000	0.61014	0.482000	0.22276	0.022000	0.15160	0.655000	0.94253	AAG		0.423	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126		79	140	0	0	0	1	0	79	140					G	158639228	C	G	158639228	3	3	303	1	0	0	0	0	1	0	0	0	15115	912	32	5	5612	5	SPTA1	1	158639228	Missense_Mutation	SNP	C	TCGA-KC-A7FD-01A-11D-A33T-08	249221	158639228	90611393	7	14452											
CACNA1E	777	broad.mit.edu	37	chr1	181680167	181680167	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgccagcagcagattgagcGtgagctgaatggctaccgtg	9	7	15	10	3	0	4	0	3	0	1	0	4	0	4	2	1	5	4	2	1	2	2	rs575157426		TCGA-KC-A7FD-01A-11D-A33T-08	TCGA-KC-A7FD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f255429b-c98f-4c60-ad83-3b67ddb553c5	0958a78b-72c4-4579-8811-b61a2b1178de	g.chr1:181680167G>A	ENST00000367573.2	+	8	1133	c.1133G>A	c.(1132-1134)cGt>cAt	p.R378H	CACNA1E_ENST00000357570.5_Missense_Mutation_p.R329H|CACNA1E_ENST00000526775.1_Missense_Mutation_p.R378H|CACNA1E_ENST00000367570.1_Missense_Mutation_p.R378H|CACNA1E_ENST00000358338.5_Missense_Mutation_p.R329H|CACNA1E_ENST00000367567.4_5'UTR|CACNA1E_ENST00000360108.3_Missense_Mutation_p.R378H	NM_001205293.1	NP_001192222.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	378	Binding to the beta subunit. {ECO:0000250}.				calcium ion import (GO:0070509)|energy reserve metabolic process (GO:0006112)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|voltage-gated calcium channel activity (GO:0005245)			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						CAGATTGAGCGTGAGCTGAAT	0.577													G|||	1	0.000199681	8e-04	0	5008	,	,		20107	0		0	False		,,,				2504	0					ENST00000526775.1																			0				NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						c.(1132-1134)cGt>cAt		calcium channel, voltage-dependent, R type, alpha 1E subunit							66	72	70					1																	181680167		1986	4158	6144	SO:0001583	missense	777				energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr1:181680167G>A	AK096563	CCDS53443.1, CCDS55664.1, CCDS55665.1	1q25.3	2013-01-10	2007-02-16		ENSG00000198216	ENSG00000198216		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels", "EF-hand domain containing"	1392	protein-coding gene	gene with protein product		601013		CACNL1A6		8388125, 16382099	Standard	NM_001205293		Approved	Cav2.3, BII, CACH6	uc009wxt.3	Q15878	OTTHUMG00000037301	ENST00000367573.2:c.1133G>A	1.37:g.181680167G>A	ENSP00000356545:p.Arg378His					CACNA1E_ENST00000360108.3_Missense_Mutation_p.R378H|CACNA1E_ENST00000357570.5_Missense_Mutation_p.R329H|CACNA1E_ENST00000367567.4_5'UTR|CACNA1E_ENST00000358338.5_Missense_Mutation_p.R329H|CACNA1E_ENST00000367573.2_Missense_Mutation_p.R378H|CACNA1E_ENST00000367570.1_Missense_Mutation_p.R378H	p.R378H	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN			8	1298	+			378			Binding to the beta subunit (By similarity).		B1AM12|B1AM13|B1AM14|Q14580|Q14581	Missense_Mutation	SNP	ENST00000367573.2	37	c.1133G>A	CCDS55664.1	.	.	.	.	.	.	.	.	.	.	G	27.9	4.870022	0.91587	.	.	ENSG00000198216	ENST00000524607;ENST00000367570;ENST00000526775;ENST00000357570;ENST00000358338;ENST00000360108;ENST00000367573	D;D;D;D;D;D;D	0.93906	-3.31;-3.31;-3.31;-3.31;-3.31;-3.31;-3.31	5.29	4.37	0.52481	.	0.109385	0.56097	D	0.000032	D	0.94640	0.8272	M	0.70595	2.14	0.80722	D	1	D;D	0.56287	0.975;0.975	P;P	0.52710	0.707;0.59	D	0.94675	0.7860	10	0.66056	D	0.02	.	14.8817	0.70537	0.0:0.0:0.8551:0.1449	.	378;378	Q15878-2;Q15878-3	.;.	H	378;378;378;329;329;378;378	ENSP00000432038:R378H;ENSP00000356542:R378H;ENSP00000434814:R378H;ENSP00000350183:R329H;ENSP00000351101:R329H;ENSP00000353222:R378H;ENSP00000356545:R378H	ENSP00000350183:R329H	R	+	2	0	CACNA1E	179946790	1.000000	0.71417	0.806000	0.32338	0.911000	0.54048	9.717000	0.98755	1.209000	0.43321	0.655000	0.94253	CGT		0.577	CACNA1E-003	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090793.2	NM_000721		6	74	0	0	0	1	0	6	74					A	181680167	G	A	181680167	3	1	303	1	0	0	0	0	1	0	0	0	2542	1145	40	1	1163	1	CACNA1E	1	181680167	Missense_Mutation	SNP	G	TCGA-KC-A7FD-01A-11D-A33T-08	23040939	181680167	67570454	8	14453											
OR2T10	127069	broad.mit.edu	37	chr1	248756250	248756250	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatagtgtagaaaaaggatgAcatcatatctttctcaggag	15	11	10	5	0	3	2	2	1	2	1	4	5	3	4	0	2	0	1	0	2	5	4			TCGA-KC-A7FD-01A-11D-A33T-08	TCGA-KC-A7FD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f255429b-c98f-4c60-ad83-3b67ddb553c5	0958a78b-72c4-4579-8811-b61a2b1178de	g.chr1:248756250A>G	ENST00000330500.2	-	1	850	c.820T>C	c.(820-822)Tca>Cca	p.S274P	Y_RNA_ENST00000364732.1_RNA	NM_001004693.1	NP_001004693.1	Q8NGZ9	O2T10_HUMAN	olfactory receptor, family 2, subfamily T, member 10	274						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(17)|skin(3)|upper_aerodigestive_tract(1)	26	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			AAAAAGGATGACATCATATCT	0.428																																						ENST00000330500.2																			0				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(17)|skin(3)|upper_aerodigestive_tract(1)	26						c.(820-822)Tca>Cca		olfactory receptor, family 2, subfamily T, member 10							56	63	61					1																	248756250		2043	4233	6276	SO:0001583	missense	127069				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248756250A>G		CCDS31121.1	1q44	2012-08-09			ENSG00000184022	ENSG00000184022		"GPCR / Class A : Olfactory receptors"	19573	protein-coding gene	gene with protein product							Standard	NM_001004693		Approved		uc010pzn.2	Q8NGZ9	OTTHUMG00000040388	ENST00000330500.2:c.820T>C	1.37:g.248756250A>G	ENSP00000329210:p.Ser274Pro						p.S274P	NM_001004693.1	NP_001004693.1	Q8NGZ9	O2T10_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	850	-	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		274					B2RNK7	Missense_Mutation	SNP	ENST00000330500.2	37	c.820T>C	CCDS31121.1	.	.	.	.	.	.	.	.	.	.	.	0.307	-0.970301	0.02232	.	.	ENSG00000184022	ENST00000330500	T	0.37411	1.2	2.35	0.359	0.16088	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.25121	0.0610	L	0.33245	0.995	0.09310	N	1	B	0.15719	0.014	B	0.15052	0.012	T	0.21965	-1.0230	9	0.87932	D	0	.	5.7832	0.18318	0.1946:0.6801:0.0:0.1253	.	274	Q8NGZ9	O2T10_HUMAN	P	274	ENSP00000329210:S274P	ENSP00000329210:S274P	S	-	1	0	OR2T10	246822873	0.000000	0.05858	0.005000	0.12908	0.000000	0.00434	-3.373000	0.00493	-0.636000	0.05524	-3.377000	0.00040	TCA		0.428	OR2T10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097139.1	NM_001004693		20	41	0	0	0	1	0	20	41					G	248756250	A	G	248756250	3	3	303	1	0	0	0	0	1	0	0	0	11017	275	10	4	121	4	OR2T10	1	248756250	Missense_Mutation	SNP	A	TCGA-KC-A7FD-01A-11D-A33T-08	67076083	248756250	494371	9	14454											
TTN	7273	broad.mit.edu	37	chr2	179418502	179418502	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggatgacttggttgaatctgCgattcttatcttagcaggtg	8	15	12	6	1	3	2	0	2	3	0	3	4	3	3	0	3	2	2	0	3	3	5	rs201592005		TCGA-KC-A7FD-01A-11D-A33T-08	TCGA-KC-A7FD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f255429b-c98f-4c60-ad83-3b67ddb553c5	0958a78b-72c4-4579-8811-b61a2b1178de	g.chr2:179418502C>T	ENST00000591111.1	-	284	84531	c.84307G>A	c.(84307-84309)Gca>Aca	p.A28103T	TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.A29744T|TTN_ENST00000460472.2_Missense_Mutation_p.A20679T|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.A27176T|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.A20804T|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.A20871T			Q8WZ42	TITIN_HUMAN	titin	28103	Fibronectin type-III 105. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GTTGAATCTGCGATTCTTATC	0.433																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(89230-89232)Gca>Aca		titin		T	THR/ALA,THR/ALA,THR/ALA,THR/ALA	1,3985		0,1,1992	77	75	76		62611,62410,81526,62035	1.8	0.7	2		76	1,8343		0,1,4171	yes	missense,missense,missense,missense	TTN	NM_133437.3,NM_133432.3,NM_133378.4,NM_003319.4	58,58,58,58	0,2,6163	TT,TC,CC		0.012,0.0251,0.0162	benign,benign,benign,benign	20871/27119,20804/27052,27176/33424,20679/26927	179418502	2,12328	1993	4172	6165	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179418502C>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.84307G>A	2.37:g.179418502C>T	ENSP00000465570:p.Ala28103Thr					TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.A28103T|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.A20871T|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.A20679T|TTN_ENST00000359218.5_Missense_Mutation_p.A20804T|TTN_ENST00000342992.6_Missense_Mutation_p.A27176T|TTN-AS1_ENST00000419746.1_RNA	p.A29744T	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		334	89454	-			28103			Fibronectin type-III 116.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.89230G>A		.	.	.	.	.	.	.	.	.	.	c	12.97	2.097702	0.37048	2.51E-4	1.2E-4	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.54279	0.58;0.58;0.58;0.58	5.61	1.82	0.25136	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.22360	0.0539	N	0.00960	-1.095	0.22342	N	0.999189	B;B;B;B	0.11235	0.004;0.004;0.004;0.001	B;B;B;B	0.06405	0.002;0.002;0.002;0.002	T	0.22661	-1.0210	9	0.87932	D	0	.	7.2975	0.26401	0.1197:0.6886:0.0:0.1917	.	20679;20804;20871;28103	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	T	27176;20679;20871;20804;20676	ENSP00000343764:A27176T;ENSP00000434586:A20679T;ENSP00000340554:A20871T;ENSP00000352154:A20804T	ENSP00000340554:A20871T	A	-	1	0	TTN	179126748	0.245000	0.23899	0.719000	0.30619	0.783000	0.44284	0.711000	0.25764	0.118000	0.18165	-0.119000	0.15052	GCA		0.433	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		15	33	0	0	0	1	0	15	33					T	179418502	C	T	179418502	3	4	303	1	0	0	0	0	1	0	0	0	16732	768	27	1	18865	1	TTN	2	179418502	Missense_Mutation	SNP	C	TCGA-KC-A7FD-01A-11D-A33T-08		179418502	63780871	10	14455											
TTN	7273	broad.mit.edu	37	chr2	179430936	179430936	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agttgggtatagtttactccCttttcaatttggaccttatc	8	18	7	8	0	1	0	1	0	0	0	3	1	2	1	2	2	1	3	2	2	5	9			TCGA-KC-A7FD-01A-11D-A33T-08	TCGA-KC-A7FD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f255429b-c98f-4c60-ad83-3b67ddb553c5	0958a78b-72c4-4579-8811-b61a2b1178de	g.chr2:179430936C>A	ENST00000591111.1	-	276	75224	c.75000G>T	c.(74998-75000)aaG>aaT	p.K25000N	TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.K26641N|TTN_ENST00000460472.2_Missense_Mutation_p.K17576N|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.K24073N|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.K17701N|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.K17768N			Q8WZ42	TITIN_HUMAN	titin	25000	Ig-like 123.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AGTTTACTCCCTTTTCAATTT	0.398																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(79921-79923)aaG>aaT		titin							132	127	128					2																	179430936		1873	4109	5982	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179430936C>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.75000G>T	2.37:g.179430936C>A	ENSP00000465570:p.Lys25000Asn					TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.K25000N|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.K17768N|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.K17576N|TTN_ENST00000359218.5_Missense_Mutation_p.K17701N|TTN_ENST00000342992.6_Missense_Mutation_p.K24073N|TTN-AS1_ENST00000419746.1_RNA	p.K26641N	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		326	80147	-			25000			Fibronectin type-III 94.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.79923G>T		.	.	.	.	.	.	.	.	.	.	C	8.926	0.962262	0.18583	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.66815	-0.23;-0.23;-0.23;-0.23	5.82	2.36	0.29203	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.46171	0.1379	N	0.05199	-0.095	0.42195	D	0.991749	P;P;P;P	0.43231	0.801;0.801;0.801;0.801	B;B;B;B	0.43225	0.339;0.339;0.339;0.412	T	0.50162	-0.8860	9	0.87932	D	0	.	8.8507	0.35199	0.0:0.5403:0.0:0.4597	.	17576;17701;17768;25000	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	N	24073;17576;17768;17701;17574	ENSP00000343764:K24073N;ENSP00000434586:K17576N;ENSP00000340554:K17768N;ENSP00000352154:K17701N	ENSP00000340554:K17768N	K	-	3	2	TTN	179139182	0.873000	0.30073	1.000000	0.80357	0.989000	0.77384	-0.022000	0.12480	0.696000	0.31696	0.555000	0.69702	AAG		0.398	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		4	151	1	0	1	1	1	4	151					A	179430936	C	A	179430936	3	1	303	1	0	0	0	0	1	0	0	0	16732	680	24	5	28204	5	TTN	2	179430936	Missense_Mutation	SNP	C	TCGA-KC-A7FD-01A-11D-A33T-08	12434	179430936	63768437	11	14456											
ITPR1	3708	broad.mit.edu	37	chr3	4776852	4776852	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tattccatcttcttagggggAggttccggatccagctctat	7	14	10	10	1	3	0	0	0	3	0	6	2	6	2	3	4	1	2	3	4	3	6			TCGA-KC-A7FD-01A-11D-A33T-08	TCGA-KC-A7FD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f255429b-c98f-4c60-ad83-3b67ddb553c5	0958a78b-72c4-4579-8811-b61a2b1178de	g.chr3:4776852A>G	ENST00000443694.2	+	41	5313	c.5313A>G	c.(5311-5313)ggA>ggG	p.G1771G	ITPR1_ENST00000423119.2_Silent_p.G1738G|ITPR1_ENST00000357086.4_Silent_p.G1738G|ITPR1_ENST00000354582.6_Silent_p.G1771G|ITPR1_ENST00000544951.1_Intron|ITPR1_ENST00000302640.8_Silent_p.G1771G|ITPR1_ENST00000456211.2_Silent_p.G1723G			Q14643	ITPR1_HUMAN	inositol 1,4,5-trisphosphate receptor, type 1	1786					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|negative regulation of calcium-mediated signaling (GO:0050849)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|post-embryonic development (GO:0009791)|regulation of insulin secretion (GO:0050796)|release of sequestered calcium ion into cytosol (GO:0051209)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|voluntary musculoskeletal movement (GO:0050882)	calcineurin complex (GO:0005955)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear inner membrane (GO:0005637)|nucleolus (GO:0005730)|platelet dense granule membrane (GO:0031088)|platelet dense tubular network (GO:0031094)|platelet dense tubular network membrane (GO:0031095)|postsynaptic density (GO:0014069)|sarcoplasmic reticulum (GO:0016529)	calcium channel inhibitor activity (GO:0019855)|calcium ion transmembrane transporter activity (GO:0015085)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|intracellular ligand-gated calcium channel activity (GO:0005218)|phosphatidylinositol binding (GO:0035091)			NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)	Caffeine(DB00201)	TCTTAGGGGGAGGTTCCGGAT	0.463																																						ENST00000302640.8																			0				NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106						c.(5311-5313)ggA>ggG		inositol 1,4,5-trisphosphate receptor, type 1							68	71	70					3																	4776852		1980	4138	6118	SO:0001819	synonymous_variant	3708				activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding	g.chr3:4776852A>G	D26070	CCDS46740.1, CCDS46740.2, CCDS54550.1, CCDS54551.1	3p26.1	2014-06-12	2011-04-28			ENSG00000150995		"Ion channels / Inositol triphosphate receptors"	6180	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 94"	147265	"spinocerebellar ataxia 15", "spinocerebellar ataxia 16", "spinocerebellar ataxia 29"	SCA15, SCA16, SCA29		7945203, 7500840, 17590087, 17932120, 22986007	Standard	NM_001099952		Approved	Insp3r1, IP3R1, ACV, PPP1R94	uc003bqc.3	Q14643		ENST00000443694.2:c.5313A>G	3.37:g.4776852A>G						ITPR1_ENST00000544951.1_Intron|ITPR1_ENST00000456211.2_Silent_p.G1723G|ITPR1_ENST00000354582.6_Silent_p.G1771G|ITPR1_ENST00000423119.2_Silent_p.G1738G|ITPR1_ENST00000357086.4_Silent_p.G1738G|ITPR1_ENST00000443694.2_Silent_p.G1771G	p.G1771G	NM_001168272.1	NP_001161744.1	Q14643	ITPR1_HUMAN		Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)	43	5663	+			1786					E7EPX7|E9PDE9|Q14660|Q99897	Silent	SNP	ENST00000443694.2	37	c.5313A>G	CCDS54551.1																																																																																				0.463	ITPR1-004	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337982.3	NM_002222		3	38	0	0	0	1	0	3	38					G	4776852	A	G	4776852	2	3	303	1	0	0	0	0	0	0	0	1	7920	291	11	4		4	ITPR1	3	4776852	Silent	SNP	A	TCGA-KC-A7FD-01A-11D-A33T-08		4776852	193245578	12	14457											
PLCL2	23228	broad.mit.edu	37	chr3	17051267	17051267	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agtgattgtattaattcaatGgttgagggttcagaactcaa	13	14	10	4	0	3	3	3	2	0	1	3	3	3	3	0	2	1	3	0	2	5	6			TCGA-KC-A7FD-01A-11D-A33T-08	TCGA-KC-A7FD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f255429b-c98f-4c60-ad83-3b67ddb553c5	0958a78b-72c4-4579-8811-b61a2b1178de	g.chr3:17051267G>C	ENST00000418129.2	+	2	516	c.51G>C	c.(49-51)atG>atC	p.M17I	PLCL2_ENST00000396755.2_Missense_Mutation_p.M17I|PLCL2_ENST00000460467.1_3'UTR|PLCL2_ENST00000432376.1_Missense_Mutation_p.M17I	NM_001144382.1	NP_001137854.1	Q9UPR0	PLCL2_HUMAN	phospholipase C-like 2	143	Gly-rich.				B cell proliferation involved in immune response (GO:0002322)|B-1a B cell differentiation (GO:0002337)|gamma-aminobutyric acid signaling pathway (GO:0007214)|intracellular signal transduction (GO:0035556)|lipid metabolic process (GO:0006629)|negative regulation of B cell receptor signaling pathway (GO:0050859)|positive regulation of receptor binding (GO:1900122)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of synaptic transmission, GABAergic (GO:0032228)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|GABA receptor binding (GO:0050811)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871)			breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	43						TTAATTCAATGGTTGAGGGTT	0.423																																						ENST00000418129.2																			0				breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	43						c.(49-51)atG>atC		phospholipase C-like 2							68	68	68					3																	17051267		2203	4300	6503	SO:0001583	missense	23228				intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr3:17051267G>C	AB029015	CCDS33713.1, CCDS74911.1	3p25.3-p25.1	2008-03-18	2002-02-18	2002-02-22	ENSG00000154822	ENSG00000154822			9064	protein-coding gene	gene with protein product		614276	"phospholipase C, epsilon 2"	PLCE2		10470851	Standard	NM_015184		Approved	KIAA1092	uc011awd.2	Q9UPR0	OTTHUMG00000155467	ENST00000418129.2:c.51G>C	3.37:g.17051267G>C	ENSP00000409637:p.Met17Ile					PLCL2_ENST00000460467.1_3'UTR|PLCL2_ENST00000396755.2_Missense_Mutation_p.M17I|PLCL2_ENST00000432376.1_Missense_Mutation_p.M17I	p.M17I	NM_001144382.1	NP_001137854.1	Q9UPR0	PLCL2_HUMAN			2	516	+			143			Gly-rich.		A8K5V4|Q8N498|Q9H8L0|Q9UFP9	Missense_Mutation	SNP	ENST00000418129.2	37	c.51G>C	CCDS33713.1	.	.	.	.	.	.	.	.	.	.	G	19.10	3.762323	0.69763	.	.	ENSG00000154822	ENST00000418129;ENST00000285094;ENST00000396755;ENST00000432376	T;T;T	0.62639	0.01;0.01;0.01	5.52	5.52	0.82312	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	0.000000	0.85682	D	0.000000	T	0.81259	0.4785	.	.	.	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.78314	0.971;0.991	T	0.83166	-0.0096	9	0.72032	D	0.01	.	19.4204	0.94719	0.0:0.0:1.0:0.0	.	143;17	Q9UPR0;Q9UPR0-2	PLCL2_HUMAN;.	I	17;144;17;17	ENSP00000409637:M17I;ENSP00000379979:M17I;ENSP00000412836:M17I	ENSP00000285094:M144I	M	+	3	0	PLCL2	17026271	1.000000	0.71417	0.974000	0.42286	0.963000	0.63663	9.869000	0.99810	2.599000	0.87857	0.491000	0.48974	ATG		0.423	PLCL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340250.3			24	36	0	0	0	1	0	24	36					C	17051267	G	C	17051267	3	2	303	1	0	0	0	0	1	0	0	0	12040	1348	47	5	429	5	PLCL2	3	17051267	Missense_Mutation	SNP	G	TCGA-KC-A7FD-01A-11D-A33T-08	12274415	17051267	180971163	13	14458											
ZNF502	91392	broad.mit.edu	37	chr3	44763241	44763241	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcgaaaacactcaaatcttaCgcaacatcagagaattcaca	18	8	4	11	2	4	1	3	0	1	1	5	3	4	1	0	0	3	1	0	0	6	2			TCGA-KC-A7FD-01A-11D-A33T-08	TCGA-KC-A7FD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f255429b-c98f-4c60-ad83-3b67ddb553c5	0958a78b-72c4-4579-8811-b61a2b1178de	g.chr3:44763241C>T	ENST00000296091.4	+	4	1188	c.932C>T	c.(931-933)aCg>aTg	p.T311M	ZNF502_ENST00000436624.2_Missense_Mutation_p.T311M|ZNF502_ENST00000449836.1_Missense_Mutation_p.T311M	NM_001134440.1|NM_001282880.1|NM_033210.4	NP_001127912.1|NP_001269809.1|NP_149987.2	Q8TBZ5	ZN502_HUMAN	zinc finger protein 502	311					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|endometrium(4)|large_intestine(8)|lung(4)|prostate(1)|urinary_tract(1)	19				BRCA - Breast invasive adenocarcinoma(193;0.00855)|KIRC - Kidney renal clear cell carcinoma(197;0.0471)|Kidney(197;0.0589)		TCAAATCTTACGCAACATCAG	0.403																																						ENST00000296091.4																			0				NS(1)|endometrium(4)|large_intestine(8)|lung(4)|prostate(1)|urinary_tract(1)	19						c.(931-933)aCg>aTg		zinc finger protein 502							135	142	139					3																	44763241		2202	4300	6502	SO:0001583	missense	91392				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr3:44763241C>T	AK022577	CCDS2719.1	3p21.32	2013-01-08			ENSG00000196653	ENSG00000196653		"Zinc fingers, C2H2-type"	23718	protein-coding gene	gene with protein product							Standard	NM_033210		Approved	FLJ14855, FLJ12515	uc003cnt.3	Q8TBZ5	OTTHUMG00000133086	ENST00000296091.4:c.932C>T	3.37:g.44763241C>T	ENSP00000296091:p.Thr311Met					ZNF502_ENST00000436624.2_Missense_Mutation_p.T311M|ZNF502_ENST00000449836.1_Missense_Mutation_p.T311M	p.T311M	NM_001134440.1|NM_033210.4	NP_001127912.1|NP_149987.2	Q8TBZ5	ZN502_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00855)|KIRC - Kidney renal clear cell carcinoma(197;0.0471)|Kidney(197;0.0589)	4	1188	+			311						Missense_Mutation	SNP	ENST00000296091.4	37	c.932C>T	CCDS2719.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.31|13.31	2.200235|2.200235	0.38905|0.38905	.|.	.|.	ENSG00000196653|ENSG00000196653	ENST00000427783|ENST00000449836;ENST00000296091;ENST00000436624	.|T;T;T	.|0.18810	.|2.19;2.19;2.19	4.27|4.27	-0.481|-0.481	0.12082|0.12082	.|Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.|.	.|.	.|.	.|.	T|T	0.12050|0.12050	0.0293|0.0293	L|L	0.38649|0.38649	1.16|1.16	0.09310|0.09310	N|N	1|1	.|P	.|0.40282	.|0.711	.|B	.|0.33568	.|0.166	T|T	0.18085|0.18085	-1.0348|-1.0348	6|9	0.66056|0.52906	D|T	0.02|0.07	-0.2728|-0.2728	3.2846|3.2846	0.06927|0.06927	0.3061:0.3077:0.0:0.3862|0.3061:0.3077:0.0:0.3862	.|.	.|311	.|Q8TBZ5	.|ZN502_HUMAN	C|M	311|311	.|ENSP00000397390:T311M;ENSP00000296091:T311M;ENSP00000406469:T311M	ENSP00000397812:R311C|ENSP00000296091:T311M	R|T	+|+	1|2	0|0	ZNF502|ZNF502	44738245|44738245	0.000000|0.000000	0.05858|0.05858	0.054000|0.054000	0.19295|0.19295	0.945000|0.945000	0.59286|0.59286	-3.128000|-3.128000	0.00592|0.00592	0.080000|0.080000	0.16959|0.16959	0.655000|0.655000	0.94253|0.94253	CGC|ACG		0.403	ZNF502-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256744.4	NM_033210		12	147	0	0	0	1	0	12	147					T	44763241	C	T	44763241	3	4	303	1	0	0	0	0	1	0	0	0	17947	536	19	1	938	1	ZNF502	3	44763241	Missense_Mutation	SNP	C	TCGA-KC-A7FD-01A-11D-A33T-08	27711974	44763241	153259189	14	14459											
KLHL18	23276	broad.mit.edu	37	chr3	47364056	47364056	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cagctttccctctttcctctAgtgccctggaggctctgatc	4	14	8	15	0	3	1	0	1	3	0	6	2	5	2	3	2	2	2	3	2	1	3			TCGA-KC-A7FD-01A-11D-A33T-08	TCGA-KC-A7FD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f255429b-c98f-4c60-ad83-3b67ddb553c5	0958a78b-72c4-4579-8811-b61a2b1178de	g.chr3:47364056A>G	ENST00000232766.5	+	3	280		c.e3-1		KLHL18_ENST00000455924.2_Splice_Site	NM_025010.4	NP_079286.2	O94889	KLH18_HUMAN	kelch-like family member 18											endometrium(2)|kidney(1)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	21		Acute lymphoblastic leukemia(5;0.164)		BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00645)|Kidney(197;0.00741)		TCTTTCCTCTAGTGCCCTGGA	0.542																																						ENST00000232766.5																			0				endometrium(2)|kidney(1)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	21						c.e3-1		kelch-like family member 18							87	71	77					3																	47364056		2203	4300	6503	SO:0001630	splice_region_variant	23276							g.chr3:47364056A>G	AB018338	CCDS33749.1	3p21	2013-01-30	2013-01-30		ENSG00000114648	ENSG00000114648		"Kelch-like", "BTB/POZ domain containing"	29120	protein-coding gene	gene with protein product			"kelch-like 18 (Drosophila)"			9872452	Standard	NM_025010		Approved	KIAA0795, FLJ13703	uc003crd.3	O94889	OTTHUMG00000156522	ENST00000232766.5:c.261-1A>G	3.37:g.47364056A>G						KLHL18_ENST00000455924.2_Splice_Site		NM_025010.4	NP_079286.2	O94889	KLH18_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00645)|Kidney(197;0.00741)	3	280	+		Acute lymphoblastic leukemia(5;0.164)						A8K612|Q7Z3E8|Q8N125	Splice_Site	SNP	ENST00000232766.5	37		CCDS33749.1	.	.	.	.	.	.	.	.	.	.	A	25.6	4.653159	0.88056	.	.	ENSG00000114648	ENST00000232766;ENST00000437353	.	.	.	5.29	5.29	0.74685	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.5603	0.68130	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	KLHL18	47339060	1.000000	0.71417	0.996000	0.52242	0.994000	0.84299	9.017000	0.93651	2.229000	0.72834	0.533000	0.62120	.		0.542	KLHL18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344493.1	NM_025010	Intron	20	22	0	0	0	1	0	20	22					G	47364056	A	G	47364056	5	3	303	1	0	0	0	0	0	0	1	0	8373	434	15	4	269	4	KLHL18	3	47364056	Splice_Site	SNP	A	TCGA-KC-A7FD-01A-11D-A33T-08	2600815	47364056	150658374	15	14460											
COL7A1	1294	broad.mit.edu	37	chr3	48623584	48623584	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggcttggcccatcatccaCggcgaagaaggtctggacag	10	6	13	12	2	2	1	1	0	1	1	3	3	3	2	2	5	0	1	2	5	2	1	rs150513888	byFrequency	TCGA-KC-A7FD-01A-11D-A33T-08	TCGA-KC-A7FD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f255429b-c98f-4c60-ad83-3b67ddb553c5	0958a78b-72c4-4579-8811-b61a2b1178de	g.chr3:48623584C>T	ENST00000328333.8	-	27	3753	c.3646G>A	c.(3646-3648)Gtg>Atg	p.V1216M	COL7A1_ENST00000454817.1_Missense_Mutation_p.V1216M	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	1216	Nonhelical region (NC1).|VWFA 2. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|collagen type VII trimer (GO:0005590)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	serine-type endopeptidase inhibitor activity (GO:0004867)			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		CCATCATCCACGGCGAAGAAG	0.602													C|||	2	0.000399361	0	0	5008	,	,		16832	0		0	False		,,,				2504	0.002					ENST00000328333.8																			0				NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137						c.(3646-3648)Gtg>Atg		collagen, type VII, alpha 1		C	MET/VAL	0,4406		0,0,2203	85	94	91		3646	3	0.5	3	dbSNP_134	91	1,8599		0,1,4299	no	missense	COL7A1	NM_000094.3	21	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	1216/2945	48623584	1,13005	2203	4300	6503	SO:0001583	missense	1294				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity	g.chr3:48623584C>T	L02870	CCDS2773.1	3p21.1	2014-09-17	2008-08-01		ENSG00000114270	ENSG00000114270		"Collagens", "Fibronectin type III domain containing"	2214	protein-coding gene	gene with protein product	"collagen VII, alpha-1 polypeptide", "LC collagen"	120120	"epidermolysis bullosa, dystrophic, dominant and recessive"	EBDCT, EBD1, EBR1		1871109	Standard	NM_000094		Approved		uc003ctz.2	Q02388	OTTHUMG00000133541	ENST00000328333.8:c.3646G>A	3.37:g.48623584C>T	ENSP00000332371:p.Val1216Met					COL7A1_ENST00000454817.1_Missense_Mutation_p.V1216M	p.V1216M	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)	27	3753	-			1216			Nonhelical region (NC1).|VWFA 2.		Q14054|Q16507	Missense_Mutation	SNP	ENST00000328333.8	37	c.3646G>A	CCDS2773.1	.	.	.	.	.	.	.	.	.	.	C	6.566	0.472729	0.12461	0.0	1.16E-4	ENSG00000114270	ENST00000328333;ENST00000454817	T;T	0.80566	-1.39;-1.39	4.76	2.96	0.34315	von Willebrand factor, type A (2);	0.184208	0.25932	N	0.027379	T	0.66356	0.2781	N	0.19112	0.55	0.09310	N	0.999999	B	0.14438	0.01	B	0.15052	0.012	T	0.58651	-0.7599	10	0.54805	T	0.06	.	9.7356	0.40386	0.0:0.8382:0.0:0.1618	.	1216	Q02388	CO7A1_HUMAN	M	1216	ENSP00000332371:V1216M;ENSP00000412569:V1216M	ENSP00000332371:V1216M	V	-	1	0	COL7A1	48598588	0.000000	0.05858	0.494000	0.27515	0.726000	0.41606	-1.699000	0.01906	0.724000	0.32296	-0.254000	0.11334	GTG		0.602	COL7A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257519.1	NM_000094		46	103	0	0	0	1	0	46	103					T	48623584	C	T	48623584	3	4	303	1	0	0	0	0	1	0	0	0	3704	536	19	1	5556	1	COL7A1	3	48623584	Missense_Mutation	SNP	C	TCGA-KC-A7FD-01A-11D-A33T-08	1259528	48623584	149398846	16	14461											
PIK3R4	30849	broad.mit.edu	37	chr3	130452642	130452642	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggagccaaatgaagaatcagTtccaaagcagctagtttgga	15	8	11	7	0	1	2	1	1	0	1	2	4	2	4	2	2	3	4	2	2	5	3			TCGA-KC-A7FD-01A-11D-A33T-08	TCGA-KC-A7FD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f255429b-c98f-4c60-ad83-3b67ddb553c5	0958a78b-72c4-4579-8811-b61a2b1178de	g.chr3:130452642T>C	ENST00000356763.3	-	4	1757	c.1200A>G	c.(1198-1200)gaA>gaG	p.E400E		NM_014602.2	NP_055417.1	Q99570	PI3R4_HUMAN	phosphoinositide-3-kinase, regulatory subunit 4	400					innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|protein phosphorylation (GO:0006468)|small molecule metabolic process (GO:0044281)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	axoneme (GO:0005930)|cytosol (GO:0005829)|late endosome (GO:0005770)|membrane (GO:0016020)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(6)|large_intestine(16)|lung(28)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	77						GAAGAATCAGTTCCAAAGCAG	0.398																																						ENST00000356763.3																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(6)|large_intestine(16)|lung(28)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	77						c.(1198-1200)gaA>gaG		phosphoinositide-3-kinase, regulatory subunit 4							125	121	122					3																	130452642		2203	4300	6503	SO:0001819	synonymous_variant	30849				fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway	cytosol	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr3:130452642T>C	Y08991	CCDS3067.1	3q22.1	2013-01-10	2008-02-04		ENSG00000196455	ENSG00000196455		"WD repeat domain containing"	8982	protein-coding gene	gene with protein product		602610				8999962	Standard	NM_014602		Approved	VPS15, p150	uc003enj.3	Q99570	OTTHUMG00000159645	ENST00000356763.3:c.1200A>G	3.37:g.130452642T>C							p.E400E	NM_014602.2	NP_055417.1	Q99570	PI3R4_HUMAN			4	1757	-			400					Q2TBF4	Silent	SNP	ENST00000356763.3	37	c.1200A>G	CCDS3067.1																																																																																				0.398	PIK3R4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356668.1	NM_014602		9	98	0	0	0	1	0	9	98					C	130452642	T	C	130452642	2	2	303	1	0	0	0	0	0	0	0	1	11921	1722	60	4		4	PIK3R4	3	130452642	Silent	SNP	T	TCGA-KC-A7FD-01A-11D-A33T-08	81829058	130452642	67569788	17	14462											
UBXN7	26043	broad.mit.edu	37	chr3	196089432	196089432	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcactgccagaaaaaagttCagattcagattcttcatctg	13	12	6	10	0	6	3	4	0	2	3	6	3	6	3	1	0	1	1	1	0	3	4			TCGA-KC-A7FD-01A-11D-A33T-08	TCGA-KC-A7FD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f255429b-c98f-4c60-ad83-3b67ddb553c5	0958a78b-72c4-4579-8811-b61a2b1178de	g.chr3:196089432C>A	ENST00000296328.4	-	9	1035	c.961G>T	c.(961-963)Gaa>Taa	p.E321*	UBXN7_ENST00000428095.1_Nonsense_Mutation_p.E159*|UBXN7_ENST00000535858.1_Nonsense_Mutation_p.E173*	NM_015562.1	NP_056377.1	O94888	UBXN7_HUMAN	UBX domain protein 7	321						Cdc48p-Npl4p-Ufd1p AAA ATPase complex (GO:0034098)|nucleus (GO:0005634)	transcription factor binding (GO:0008134)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)			NS(1)|endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	18						GAAAAAAGTTCAGATTCAGAT	0.443																																						ENST00000296328.4																			0				NS(1)|endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	18						c.(961-963)Gaa>Taa		UBX domain protein 7							112	106	108					3																	196089432		1845	4100	5945	SO:0001587	stop_gained	26043						protein binding	g.chr3:196089432C>A	AB018337	CCDS43191.1	3q29	2012-07-06	2008-07-25	2008-07-25	ENSG00000163960	ENSG00000163960		"UBX domain containing"	29119	protein-coding gene	gene with protein product			"UBX domain containing 7"	UBXD7		9872452, 22537386	Standard	NM_015562		Approved	KIAA0794	uc003fwm.4	O94888	OTTHUMG00000155639	ENST00000296328.4:c.961G>T	3.37:g.196089432C>A	ENSP00000296328:p.Glu321*					UBXN7_ENST00000535858.1_Nonsense_Mutation_p.E173*|UBXN7_ENST00000428095.1_Nonsense_Mutation_p.E159*	p.E321*	NM_015562.1	NP_056377.1	O94888	UBXN7_HUMAN			9	1035	-			321					D3DXB3|Q6ZP77|Q86X20|Q8N327	Nonsense_Mutation	SNP	ENST00000296328.4	37	c.961G>T	CCDS43191.1	.	.	.	.	.	.	.	.	.	.	C	39	7.548623	0.98352	.	.	ENSG00000163960	ENST00000296328;ENST00000428095;ENST00000535858	.	.	.	5.9	5.9	0.94986	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06757	T	0.87	-17.9037	20.2723	0.98479	0.0:1.0:0.0:0.0	.	.	.	.	X	321;159;173	.	ENSP00000296328:E321X	E	-	1	0	UBXN7	197573829	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.372000	0.79612	2.793000	0.96121	0.563000	0.77884	GAA		0.443	UBXN7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340938.2	XM_087353		49	84	1	0	9.22156e-22	1	1.03393e-21	49	84					A	196089432	C	A	196089432	4	1	303	1	0	0	0	0	0	1	0	0	16915	835	29	5	520	5	UBXN7	3	196089432	Nonsense_Mutation	SNP	C	TCGA-KC-A7FD-01A-11D-A33T-08	65636790	196089432	1932998	18	14463											
GRID2	2895	broad.mit.edu	37	chr4	94344041	94344041	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggttttaactacgaaatttaCgtagcaccggatcacaaata	15	11	7	8	3	1	0	1	0	0	0	1	2	1	1	1	2	4	3	1	2	7	7	rs140894316	byFrequency	TCGA-KC-A7FD-01A-11D-A33T-08	TCGA-KC-A7FD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f255429b-c98f-4c60-ad83-3b67ddb553c5	0958a78b-72c4-4579-8811-b61a2b1178de	g.chr4:94344041C>T	ENST00000282020.4	+	10	1725	c.1467C>T	c.(1465-1467)taC>taT	p.Y489Y	GRID2_ENST00000510992.1_Silent_p.Y394Y	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	489					cellular protein localization (GO:0034613)|cerebellar granule cell differentiation (GO:0021707)|glutamate receptor signaling pathway (GO:0007215)|heterophilic cell-cell adhesion (GO:0007157)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|prepulse inhibition (GO:0060134)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of neuron apoptotic process (GO:0043523)|regulation of neuron projection development (GO:0010975)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|ionotropic glutamate receptor complex (GO:0008328)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|ionotropic glutamate receptor activity (GO:0004970)|PDZ domain binding (GO:0030165)|scaffold protein binding (GO:0097110)	p.Y489*(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)		ACGAAATTTACGTAGCACCGG	0.398													C|||	5	0.000998403	0.0038	0	5008	,	,		17481	0		0	False		,,,				2504	0					ENST00000282020.4																			1	Substitution - Nonsense(1)	p.Y489*(1)	lung(1)	NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100						c.(1465-1467)taC>taT		glutamate receptor, ionotropic, delta 2	L-Glutamic Acid(DB00142)	C		14,4392	21.2+/-45.6	0,14,2189	119	120	120		1467	1.5	1	4	dbSNP_134	120	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	GRID2	NM_001510.2		0,15,6488	TT,TC,CC		0.0116,0.3177,0.1153		489/1008	94344041	15,12991	2203	4300	6503	SO:0001819	synonymous_variant	2895				glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity	g.chr4:94344041C>T	AF009014	CCDS3637.1, CCDS68758.1	4q22	2012-08-29			ENSG00000152208	ENSG00000152208		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4576	protein-coding gene	gene with protein product		602368				9465309	Standard	NM_001510		Approved	GluD2, GluR-delta-2	uc011cdt.2	O43424	OTTHUMG00000130975	ENST00000282020.4:c.1467C>T	4.37:g.94344041C>T						GRID2_ENST00000510992.1_Silent_p.Y394Y	p.Y489Y	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	10	1725	+		Hepatocellular(203;0.114)|all_hematologic(202;0.177)	489					E9PH24|Q4KKU8|Q4KKU9|Q4KKV0|Q59FZ1	Silent	SNP	ENST00000282020.4	37	c.1467C>T	CCDS3637.1																																																																																				0.398	GRID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253588.2			19	34	0	0	0	1	0	19	34					T	94344041	C	T	94344041	2	4	303	1	0	0	0	0	0	0	0	1	6772	547	19	1		1	GRID2	4	94344041	Silent	SNP	C	TCGA-KC-A7FD-01A-11D-A33T-08		94344041	96810235	19	14464											
C4orf51	646603	broad.mit.edu	37	chr4	146601567	146601567	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attttcttttagagcaggacAgcatgagcctgagtgtaaac	12	12	10	7	0	1	3	0	2	1	1	1	4	1	4	1	1	4	3	1	1	3	5			TCGA-KC-A7FD-01A-11D-A33T-08	TCGA-KC-A7FD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f255429b-c98f-4c60-ad83-3b67ddb553c5	0958a78b-72c4-4579-8811-b61a2b1178de	g.chr4:146601567A>T	ENST00000438731.1	+	1	212	c.212A>T	c.(211-213)cAg>cTg	p.Q71L		NM_001080531.1	NP_001074000.1	C9J302	CD051_HUMAN	chromosome 4 open reading frame 51	71										haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(4)	6						AGAGCAGGACAGCATGAGCCT	0.398																																						ENST00000438731.1																			0				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(4)	6						c.(211-213)cAg>cTg		chromosome 4 open reading frame 51							81	77	78					4																	146601567		1910	4129	6039	SO:0001583	missense	646603							g.chr4:146601567A>T		CCDS47140.1	4q31.21	2009-09-09			ENSG00000237136	ENSG00000237136			37264	protein-coding gene	gene with protein product							Standard	NM_001080531		Approved		uc003ikk.3	C9J302	OTTHUMG00000161367	ENST00000438731.1:c.212A>T	4.37:g.146601567A>T	ENSP00000391404:p.Gln71Leu						p.Q71L	NM_001080531.1	NP_001074000.1	C9J302	CD051_HUMAN			1	212	+			71						Missense_Mutation	SNP	ENST00000438731.1	37	c.212A>T	CCDS47140.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	9.310|9.310	1.055320|1.055320	0.19907|0.19907	.|.	.|.	ENSG00000237136|ENSG00000237136	ENST00000438731|ENST00000511965	.|.	.|.	.|.	5.53|5.53	-1.69|-1.69	0.08186|0.08186	.|.	.|.	.|.	.|.	.|.	T|T	0.19005|0.19005	0.0456|0.0456	L|L	0.27053|0.27053	0.805|0.805	0.09310|0.09310	N|N	1|1	B|.	0.16396|.	0.017|.	B|.	0.12156|.	0.007|.	T|T	0.24657|0.24657	-1.0154|-1.0154	8|5	0.87932|.	D|.	0|.	.|.	0.0666|0.0666	0.00018|0.00018	0.3293:0.1764:0.1849:0.3095|0.3293:0.1764:0.1849:0.3095	.|.	71|.	C9J302|.	CD051_HUMAN|.	L|C	71|31	.|.	ENSP00000391404:Q71L|.	Q|S	+|+	2|1	0|0	C4orf51|C4orf51	146821017|146821017	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.549000|0.549000	0.35272|0.35272	0.020000|0.020000	0.13466|0.13466	-0.192000|-0.192000	0.10432|0.10432	0.533000|0.533000	0.62120|0.62120	CAG|AGC		0.398	C4orf51-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001080531		6	33	0	0	0	1	0	6	33					T	146601567	A	T	146601567	3	4	303	1	0	0	0	0	1	0	0	0	2277	188	7	5	214	5	C4orf51	4	146601567	Missense_Mutation	SNP	A	TCGA-KC-A7FD-01A-11D-A33T-08	52257526	146601567	44552709	20	14465											
WDR17	116966	broad.mit.edu	37	chr4	177032828	177032828	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagacaggtttgcatattgtGcgaccctggctatctatatt	9	14	10	8	1	1	1	0	0	1	1	1	3	1	1	1	2	2	3	1	2	4	7			TCGA-KC-A7FD-01A-11D-A33T-08	TCGA-KC-A7FD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f255429b-c98f-4c60-ad83-3b67ddb553c5	0958a78b-72c4-4579-8811-b61a2b1178de	g.chr4:177032828G>A	ENST00000280190.4	+	3	325	c.169G>A	c.(169-171)Gcg>Acg	p.A57T	WDR17_ENST00000393643.2_Missense_Mutation_p.A33T|WDR17_ENST00000507824.2_Missense_Mutation_p.A57T|WDR17_ENST00000508596.1_Missense_Mutation_p.A33T			Q8IZU2	WDR17_HUMAN	WD repeat domain 17	57										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(18)|lung(46)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	92		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)		TGCATATTGTGCGACCCTGGC	0.363																																						ENST00000393643.2																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(18)|lung(46)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	92						c.(97-99)Gcg>Acg		WD repeat domain 17							116	106	110					4																	177032828		2203	4300	6503	SO:0001583	missense	116966							g.chr4:177032828G>A	AF492460	CCDS3825.1, CCDS43284.1, CCDS43284.2	4q34	2013-01-09			ENSG00000150627	ENSG00000150627		"WD repeat domain containing"	16661	protein-coding gene	gene with protein product		609005				12401215	Standard	NM_170710		Approved		uc003iuj.3	Q8IZU2	OTTHUMG00000160791	ENST00000280190.4:c.169G>A	4.37:g.177032828G>A	ENSP00000280190:p.Ala57Thr					WDR17_ENST00000280190.4_Missense_Mutation_p.A57T|WDR17_ENST00000507824.2_Missense_Mutation_p.A57T|WDR17_ENST00000508596.1_Missense_Mutation_p.A33T	p.A33T	NM_170710.4	NP_733828.2	Q8IZU2	WDR17_HUMAN		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)	2	349	+		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)	57					E7EQX0|Q0QD35	Missense_Mutation	SNP	ENST00000280190.4	37	c.97G>A	CCDS3825.1	.	.	.	.	.	.	.	.	.	.	G	19.80	3.895306	0.72639	.	.	ENSG00000150627	ENST00000508596;ENST00000393643;ENST00000280190;ENST00000296524;ENST00000507824	T;T;T	0.64438	-0.06;-0.03;-0.1	5.39	5.39	0.77823	WD40/YVTN repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.70430	0.3223	L	0.27053	0.805	0.80722	D	1	D;D;D	0.76494	0.998;0.998;0.999	D;D;D	0.81914	0.995;0.948;0.995	T	0.72571	-0.4253	10	0.52906	T	0.07	-16.3469	19.1629	0.93541	0.0:0.0:1.0:0.0	.	33;57;57	E7EQX0;E7ESC9;Q8IZU2	.;.;WDR17_HUMAN	T	33;33;57;33;57	ENSP00000422763:A33T;ENSP00000377258:A33T;ENSP00000280190:A57T	ENSP00000280190:A57T	A	+	1	0	WDR17	177269822	1.000000	0.71417	0.888000	0.34837	0.084000	0.17831	7.302000	0.78861	2.513000	0.84729	0.467000	0.42956	GCG		0.363	WDR17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362334.2			23	44	0	0	0	1	0	23	44					A	177032828	G	A	177032828	3	1	303	1	0	0	0	0	1	0	0	0	17274	1319	46	3	175	3	WDR17	4	177032828	Missense_Mutation	SNP	G	TCGA-KC-A7FD-01A-11D-A33T-08	30431261	177032828	14121448	21	14466											
AGA	175	broad.mit.edu	37	chr4	178352895	178352895	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actttttcctcagttggctgAtttttttcggaattataaac	9	19	6	7	1	1	1	1	1	0	0	3	2	2	2	1	2	1	2	1	2	4	8			TCGA-KC-A7FD-01A-11D-A33T-08	TCGA-KC-A7FD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f255429b-c98f-4c60-ad83-3b67ddb553c5	0958a78b-72c4-4579-8811-b61a2b1178de	g.chr4:178352895A>T	ENST00000264595.2	-	9	1135	c.1008T>A	c.(1006-1008)aaT>aaA	p.N336K	AGA_ENST00000506853.1_5'Flank	NM_000027.3|NM_001171988.1	NP_000018.2|NP_001165459.1	P20933	ASPG_HUMAN	aspartylglucosaminidase	336					protein deglycosylation (GO:0006517)|protein maturation (GO:0051604)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	N4-(beta-N-acetylglucosaminyl)-L-asparaginase activity (GO:0003948)|peptidase activity (GO:0008233)			endometrium(1)|kidney(2)|large_intestine(6)|lung(5)|skin(2)	16		all_lung(41;1.27e-09)|Lung NSC(41;1.1e-08)|Breast(14;6.27e-05)|Melanoma(52;0.00102)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Hepatocellular(41;0.148)|all_neural(102;0.164)|Colorectal(36;0.245)		all cancers(43;1.37e-22)|Epithelial(43;3.86e-20)|OV - Ovarian serous cystadenocarcinoma(60;3.8e-11)|Colorectal(24;6.98e-05)|GBM - Glioblastoma multiforme(59;0.000362)|COAD - Colon adenocarcinoma(29;0.000462)|STAD - Stomach adenocarcinoma(60;0.0029)|LUSC - Lung squamous cell carcinoma(193;0.0328)|READ - Rectum adenocarcinoma(43;0.163)		CAGTTGGCTGATTTTTTTCGG	0.368																																						ENST00000264595.2																			0				endometrium(1)|kidney(2)|large_intestine(6)|lung(5)|skin(2)	16						c.(1006-1008)aaT>aaA		aspartylglucosaminidase							115	111	112					4																	178352895		2203	4300	6503	SO:0001583	missense	175				asparagine catabolic process via L-aspartate|protein deglycosylation|protein maturation	endoplasmic reticulum|intermediate filament cytoskeleton|lysosome|microtubule cytoskeleton	N4-(beta-N-acetylglucosaminyl)-L-asparaginase activity	g.chr4:178352895A>T	X55330	CCDS3829.1	4q34.3	2014-06-23			ENSG00000038002	ENSG00000038002	3.5.1.26		318	protein-coding gene	gene with protein product	"glycosylasparaginase", "N(4)-(beta-N-acetylglucosaminyl)-L-asparaginase"	613228					Standard	NM_000027		Approved	ASRG	uc003iuu.2	P20933	OTTHUMG00000160723	ENST00000264595.2:c.1008T>A	4.37:g.178352895A>T	ENSP00000264595:p.Asn336Lys						p.N336K	NM_000027.3|NM_001171988.1	NP_000018.2|NP_001165459.1	P20933	ASPG_HUMAN		all cancers(43;1.37e-22)|Epithelial(43;3.86e-20)|OV - Ovarian serous cystadenocarcinoma(60;3.8e-11)|Colorectal(24;6.98e-05)|GBM - Glioblastoma multiforme(59;0.000362)|COAD - Colon adenocarcinoma(29;0.000462)|STAD - Stomach adenocarcinoma(60;0.0029)|LUSC - Lung squamous cell carcinoma(193;0.0328)|READ - Rectum adenocarcinoma(43;0.163)	9	1135	-		all_lung(41;1.27e-09)|Lung NSC(41;1.1e-08)|Breast(14;6.27e-05)|Melanoma(52;0.00102)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Hepatocellular(41;0.148)|all_neural(102;0.164)|Colorectal(36;0.245)	336					B2R7H2|D3DP47|Q4W5Q2|Q6FHN6|Q9UCK6|Q9UCK7|Q9UCK8	Missense_Mutation	SNP	ENST00000264595.2	37	c.1008T>A	CCDS3829.1	.	.	.	.	.	.	.	.	.	.	A	4.307	0.056201	0.08291	.	.	ENSG00000038002	ENST00000264595	D	0.87029	-2.2	5.87	-2.17	0.07059	.	0.584736	0.21708	N	0.070315	T	0.79155	0.4398	M	0.62723	1.935	0.09310	N	1	B	0.06786	0.001	B	0.15052	0.012	T	0.61143	-0.7122	10	0.14252	T	0.57	-28.1707	6.2253	0.20703	0.4069:0.2464:0.3467:0.0	.	336	P20933	ASPG_HUMAN	K	336	ENSP00000264595:N336K	ENSP00000264595:N336K	N	-	3	2	AGA	178589889	0.000000	0.05858	0.000000	0.03702	0.108000	0.19459	0.451000	0.21779	-0.252000	0.09528	-0.912000	0.02778	AAT		0.368	AGA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361916.1	NM_000027		3	52	0	0	0	1	0	3	52					T	178352895	A	T	178352895	3	4	303	1	0	0	0	0	1	0	0	0	365	330	12	5	36	5	AGA	4	178352895	Missense_Mutation	SNP	A	TCGA-KC-A7FD-01A-11D-A33T-08	1320067	178352895	12801381	22	14467											
GPR98	84059	broad.mit.edu	37	chr5	90078963	90078963	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gaggaagatgttgggctgatCatgatcccagtggtgaggct	9	10	16	6	0	1	4	1	3	0	1	2	6	2	5	1	4	0	3	1	4	1	1			TCGA-KC-A7FD-01A-11D-A33T-08	TCGA-KC-A7FD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f255429b-c98f-4c60-ad83-3b67ddb553c5	0958a78b-72c4-4579-8811-b61a2b1178de	g.chr5:90078963C>G	ENST00000405460.2	+	66	13350	c.13254C>G	c.(13252-13254)atC>atG	p.I4418M	GPR98_ENST00000425867.2_Missense_Mutation_p.I79M	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	4418	Calx-beta 30. {ECO:0000255}.				detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TTGGGCTGATCATGATCCCAG	0.448																																						ENST00000405460.2																			0				NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269						c.(13252-13254)atC>atG		G protein-coupled receptor 98							200	195	197					5																	90078963		2038	4198	6236	SO:0001583	missense	84059				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr5:90078963C>G	AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"-", "GPCR / Class B : Orphans"	17416	protein-coding gene	gene with protein product		602851	"monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.13254C>G	5.37:g.90078963C>G	ENSP00000384582:p.Ile4418Met					GPR98_ENST00000425867.2_Missense_Mutation_p.I79M	p.I4418M	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)	66	13350	+		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)	4418					O75171|Q8TF58|Q9H0X5|Q9UL61	Missense_Mutation	SNP	ENST00000405460.2	37	c.13254C>G	CCDS47246.1	.	.	.	.	.	.	.	.	.	.	C	11.66	1.705909	0.30232	.	.	ENSG00000164199	ENST00000405460;ENST00000296619;ENST00000425867	T;T	0.32023	1.47;1.47	6.17	1.46	0.22682	Na-Ca exchanger/integrin-beta4 (2);	0.605223	0.18225	N	0.147753	T	0.27731	0.0682	L	0.45137	1.4	0.09310	N	1	B;B;B	0.33826	0.317;0.427;0.141	B;B;B	0.41174	0.349;0.34;0.201	T	0.21245	-1.0251	10	0.62326	D	0.03	.	5.6594	0.17660	0.1187:0.5026:0.0:0.3787	.	79;4418;79	E7EML1;Q8WXG9;Q8WXG9-2	.;GPR98_HUMAN;.	M	4418;4418;79	ENSP00000384582:I4418M;ENSP00000392618:I79M	ENSP00000296619:I4418M	I	+	3	3	GPR98	90114719	0.000000	0.05858	0.000000	0.03702	0.050000	0.14768	-0.203000	0.09438	-0.016000	0.14127	0.655000	0.94253	ATC		0.448	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2	NM_032119		63	112	0	0	0	1	0	63	112					G	90078963	C	G	90078963	3	3	303	1	0	0	0	0	1	0	0	0	6721	816	29	5	13516	5	GPR98	5	90078963	Missense_Mutation	SNP	C	TCGA-KC-A7FD-01A-11D-A33T-08		90078963	90836297	23	14468											
NRG2	9542	broad.mit.edu	37	chr5	139251346	139251346	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccctcgatgtagtagcagaCgcctccattgacgcaatagg	10	8	11	12	3	0	2	0	1	0	1	2	3	1	2	3	1	1	4	3	1	4	4	rs188700714	byFrequency	TCGA-KC-A7FD-01A-11D-A33T-08	TCGA-KC-A7FD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f255429b-c98f-4c60-ad83-3b67ddb553c5	0958a78b-72c4-4579-8811-b61a2b1178de	g.chr5:139251346C>T	ENST00000361474.1	-	4	1296	c.1072G>A	c.(1072-1074)Gtc>Atc	p.V358I	NRG2_ENST00000340391.3_Missense_Mutation_p.V155I|NRG2_ENST00000541337.1_Intron|NRG2_ENST00000289422.7_Missense_Mutation_p.V358I|NRG2_ENST00000358522.3_Missense_Mutation_p.V358I|NRG2_ENST00000545385.1_Missense_Mutation_p.V358I|NRG2_ENST00000518130.1_5'UTR|NRG2_ENST00000394770.1_Missense_Mutation_p.V358I|NRG2_ENST00000289409.4_Missense_Mutation_p.V358I	NM_004883.2	NP_004874.1	O14511	NRG2_HUMAN	neuregulin 2	358	EGF-like. {ECO:0000255|PROSITE- ProRule:PRU00076}.				embryo development (GO:0009790)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)	p.V358I(1)		breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	25			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TAGTAGCAGACGCCTCCATTG	0.572													C|||	15	0.00299521	0	0	5008	,	,		20272	0.0149		0	False		,,,				2504	0					ENST00000394770.1																			1	Substitution - Missense(1)	p.V358I(1)	haematopoietic_and_lymphoid_tissue(1)	breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	25						c.(1072-1074)Gtc>Atc		neuregulin 2							212	159	177					5																	139251346		2203	4300	6503	SO:0001583	missense	9542				embryo development	extracellular region|integral to membrane|plasma membrane	growth factor activity	g.chr5:139251346C>T		CCDS4217.1, CCDS54910.1	5q23-q33	2013-01-11			ENSG00000158458	ENSG00000158458		"Immunoglobulin superfamily / I-set domain containing"	7998	protein-coding gene	gene with protein product	"neural- and thymus-derived activator for ErbB kinases", "divergent of neuregulin-1"	603818				9168114, 9168115	Standard	NM_004883		Approved	Don-1, NTAK, HRG2	uc003lev.2	O14511	OTTHUMG00000129241	ENST00000361474.1:c.1072G>A	5.37:g.139251346C>T	ENSP00000354910:p.Val358Ile					NRG2_ENST00000358522.3_Missense_Mutation_p.V358I|NRG2_ENST00000518130.1_5'UTR|NRG2_ENST00000361474.1_Missense_Mutation_p.V358I|NRG2_ENST00000541337.1_Intron|NRG2_ENST00000545385.1_Missense_Mutation_p.V358I|NRG2_ENST00000340391.3_Missense_Mutation_p.V155I|NRG2_ENST00000289409.4_Missense_Mutation_p.V358I|NRG2_ENST00000289422.7_Missense_Mutation_p.V358I	p.V358I			O14511	NRG2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		4	1296	-			358			EGF-like.			Missense_Mutation	SNP	ENST00000361474.1	37	c.1072G>A	CCDS4217.1	4	0.0018315018315018315	0	0.0	0	0.0	4	0.006993006993006993	0	0.0	C	19.03	3.747463	0.69533	.	.	ENSG00000158458	ENST00000289422;ENST00000361474;ENST00000446269;ENST00000545385;ENST00000394770;ENST00000340391;ENST00000289409;ENST00000358522;ENST00000544729;ENST00000378238	T;T;T;T;T;T;T;T	0.42131	0.98;0.98;0.98;0.98;0.98;0.98;0.98;0.98	4.81	4.81	0.61882	Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.268821	0.30168	N	0.010256	T	0.35335	0.0928	N	0.25957	0.775	0.43421	D	0.995575	P;D;P;D	0.71674	0.92;0.998;0.608;0.997	B;P;B;P	0.53760	0.401;0.546;0.129;0.734	T	0.32587	-0.9901	10	0.49607	T	0.09	-21.9796	15.6633	0.77206	0.0:1.0:0.0:0.0	.	358;358;358;358	O14511-2;O14511;O14511-4;O14511-3	.;NRG2_HUMAN;.;.	I	358;358;358;358;358;155;358;358;266;358	ENSP00000289422:V358I;ENSP00000354910:V358I;ENSP00000438753:V358I;ENSP00000378251:V358I;ENSP00000342660:V155I;ENSP00000289409:V358I;ENSP00000351323:V358I;ENSP00000367483:V358I	ENSP00000289409:V358I	V	-	1	0	NRG2	139231530	1.000000	0.71417	1.000000	0.80357	0.915000	0.54546	5.162000	0.64942	2.218000	0.71995	0.462000	0.41574	GTC		0.572	NRG2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251340.1	NM_013982		4	93	0	0	0	1	0	4	93					T	139251346	C	T	139251346	3	4	303	1	0	0	0	0	1	0	0	0	10648	536	19	1	1599	1	NRG2	5	139251346	Missense_Mutation	SNP	C	TCGA-KC-A7FD-01A-11D-A33T-08	49172383	139251346	41663914	24	14469											
PCDHA10	56139	broad.mit.edu	37	chr5	140235770	140235770	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acacggcaccttcgtgggccGcatcgcgcaggacctggggc	6	5	15	15	5	0	0	0	0	0	0	2	1	0	1	3	5	0	3	3	5	0	1			TCGA-KC-A7FD-01A-11D-A33T-08	TCGA-KC-A7FD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f255429b-c98f-4c60-ad83-3b67ddb553c5	0958a78b-72c4-4579-8811-b61a2b1178de	g.chr5:140235770G>A	ENST00000307360.5	+	1	137	c.137G>A	c.(136-138)cGc>cAc	p.R46H	PCDHA6_ENST00000529310.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA10_ENST00000506939.2_Missense_Mutation_p.R46H|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron	NM_018901.2	NP_061724.1	Q9Y5I2	PCDAA_HUMAN	protocadherin alpha 10	46	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	79			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTCGTGGGCCGCATCGCGCAG	0.657																																						ENST00000307360.5																			0				NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	79						c.(136-138)cGc>cAc									48	55	53					5																	140235770		2196	4269	6465	SO:0001583	missense	0							g.chr5:140235770G>A	AF152475	CCDS34255.1, CCDS54921.1, CCDS75325.1	5q31	2010-11-26			ENSG00000250120	ENSG00000250120		"Cadherins / Protocadherins : Clustered"	8664	other	complex locus constituent	"KIAA0345-like 4", "ortholog to mouse CNR8"	606316		CNRS8		10380929	Standard	NM_018901		Approved	CNR8, CRNR8, CNRN8, PCDH-ALPHA10		Q9Y5I2	OTTHUMG00000163372	ENST00000307360.5:c.137G>A	5.37:g.140235770G>A	ENSP00000304234:p.Arg46His					PCDHA9_ENST00000532602.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA10_ENST00000506939.2_Missense_Mutation_p.R46H|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron	p.R46H	NM_018901.2|NM_031859.1	NP_061724.1|NP_114065.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	137	+								A1L493|O75280|Q9NRU2	Missense_Mutation	SNP	ENST00000307360.5	37	c.137G>A	CCDS54921.1	.	.	.	.	.	.	.	.	.	.	G	13.90	2.373889	0.42105	.	.	ENSG00000250120	ENST00000506939;ENST00000307360	T;T	0.27256	1.68;1.68	4.27	4.27	0.50696	Cadherin, N-terminal (1);Cadherin (3);Cadherin-like (1);	.	.	.	.	T	0.27765	0.0683	M	0.69185	2.1	0.21675	N	0.999599	P;P;P	0.52692	0.955;0.848;0.468	B;B;B	0.41332	0.354;0.282;0.097	T	0.27226	-1.0080	9	0.59425	D	0.04	.	9.3741	0.38272	0.1663:0.0:0.8337:0.0	.	46;46;46	Q9Y5I2-3;Q9Y5I2;Q9Y5I2-2	.;PCDAA_HUMAN;.	H	46	ENSP00000421030:R46H;ENSP00000304234:R46H	ENSP00000304234:R46H	R	+	2	0	PCDHA10	140215954	0.013000	0.17824	1.000000	0.80357	0.890000	0.51754	2.142000	0.42177	2.391000	0.81399	0.556000	0.70494	CGC		0.657	PCDHA10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372895.2	NM_018901		4	130	0	0	0	1	0	4	130					A	140235770	G	A	140235770	3	1	303	1	0	0	0	0	1	0	0	0	11520	1087	38	1	139	1	PCDHA10	5	140235770	Missense_Mutation	SNP	G	TCGA-KC-A7FD-01A-11D-A33T-08	984424	140235770	40679490	25	14470											
COL10A1	1300	broad.mit.edu	37	chr6	116442816	116442816	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ctgttgtccaggttttcctgGcacagaaattccagccggtc	7	12	10	12	1	0	1	0	0	0	1	4	1	3	1	4	3	1	3	4	3	1	4			TCGA-KC-A7FD-01A-11D-A33T-08	TCGA-KC-A7FD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f255429b-c98f-4c60-ad83-3b67ddb553c5	0958a78b-72c4-4579-8811-b61a2b1178de	g.chr6:116442816G>A	ENST00000327673.4	-	2	870	c.463C>T	c.(463-465)Cca>Tca	p.P155S	NT5DC1_ENST00000319550.4_Intron|AL121963.1_ENST00000430695.1_Intron|COL10A1_ENST00000243222.4_Missense_Mutation_p.P155S			Q03692	COAA1_HUMAN	collagen, type X, alpha 1	155	Triple-helical region.				cartilage development (GO:0051216)|collagen catabolic process (GO:0030574)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	cell cortex (GO:0005938)|collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(2)|lung(6)|skin(3)|upper_aerodigestive_tract(1)	13		all_cancers(87;0.0176)|all_epithelial(87;0.0263)|Colorectal(196;0.234)		all cancers(137;0.0157)|OV - Ovarian serous cystadenocarcinoma(136;0.0325)|GBM - Glioblastoma multiforme(226;0.0446)|Epithelial(106;0.0711)		GGTTTTCCTGGCACAGAAATT	0.592																																						ENST00000327673.4																			0				central_nervous_system(1)|endometrium(2)|lung(6)|skin(3)|upper_aerodigestive_tract(1)	13						c.(463-465)Cca>Tca		collagen, type X, alpha 1							34	37	36					6																	116442816		2203	4300	6503	SO:0001583	missense	1300				skeletal system development	collagen	metal ion binding	g.chr6:116442816G>A		CCDS5105.1	6q21-q22	2013-01-16	2008-07-29		ENSG00000123500	ENSG00000123500		"Collagens"	2185	protein-coding gene	gene with protein product	"Schmid metaphyseal chondrodysplasia"	120110				2037056	Standard	XM_006715332		Approved		uc003pwm.3	Q03692	OTTHUMG00000015426	ENST00000327673.4:c.463C>T	6.37:g.116442816G>A	ENSP00000327368:p.Pro155Ser					NT5DC1_ENST00000319550.4_Intron|AL121963.1_ENST00000430695.1_Intron|COL10A1_ENST00000243222.4_Missense_Mutation_p.P155S	p.P155S			Q03692	COAA1_HUMAN		all cancers(137;0.0157)|OV - Ovarian serous cystadenocarcinoma(136;0.0325)|GBM - Glioblastoma multiforme(226;0.0446)|Epithelial(106;0.0711)	2	870	-		all_cancers(87;0.0176)|all_epithelial(87;0.0263)|Colorectal(196;0.234)	155			Triple-helical region.		A1L4P2	Missense_Mutation	SNP	ENST00000327673.4	37	c.463C>T	CCDS5105.1	.	.	.	.	.	.	.	.	.	.	A	3.573	-0.087179	0.07097	.	.	ENSG00000123500	ENST00000243222;ENST00000327673;ENST00000452729	D;D;D	0.96587	-4.06;-4.06;-3.64	5.55	-11.1	0.00147	.	0.928546	0.09133	N	0.844075	D	0.87418	0.6172	M	0.68317	2.08	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.67133	-0.5747	10	0.40728	T	0.16	.	11.2582	0.49067	0.0934:0.2044:0.5736:0.1286	.	155	Q03692	COAA1_HUMAN	S	155	ENSP00000243222:P155S;ENSP00000327368:P155S;ENSP00000411285:P155S	ENSP00000243222:P155S	P	-	1	0	COL10A1	116549509	0.000000	0.05858	0.007000	0.13788	0.649000	0.38597	-3.179000	0.00569	-3.162000	0.00227	-1.180000	0.01717	CCA		0.592	COL10A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041926.1			17	16	0	0	0	1	0	17	16					A	116442816	G	A	116442816	3	1	303	1	0	0	0	0	1	0	0	0	3666	1203	42	3	1583	3	COL10A1	6	116442816	Missense_Mutation	SNP	G	TCGA-KC-A7FD-01A-11D-A33T-08		116442816	54672251	26	14471											
MLL3	58508	broad.mit.edu	37	chr7	151921662	151921662	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggcctcacacacagtgcactCaagacacctccaacctttgc	11	7	6	17	0	2	1	2	0	0	1	3	1	3	1	4	1	3	1	4	1	2	1			TCGA-KC-A7FD-01A-11D-A33T-08	TCGA-KC-A7FD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f255429b-c98f-4c60-ad83-3b67ddb553c5	0958a78b-72c4-4579-8811-b61a2b1178de	g.chr7:151921662C>G	ENST00000262189.6	-	19	3234	c.3016G>C	c.(3016-3018)Gag>Cag	p.E1006Q	KMT2C_ENST00000355193.2_Missense_Mutation_p.E1006Q	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	1006					histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										ACAGTGCACTCAAGACACCTC	0.433																																						ENST00000355193.2																			0											c.(3016-3018)Gag>Cag		lysine (K)-specific methyltransferase 2C							12	11	11					7																	151921662		2160	4234	6394	SO:0001583	missense	58508							g.chr7:151921662C>G	AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	13726	protein-coding gene	gene with protein product		606833	"myeloid/lymphoid or mixed-lineage leukemia 3"	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.3016G>C	7.37:g.151921662C>G	ENSP00000262189:p.Glu1006Gln					KMT2C_ENST00000262189.6_Missense_Mutation_p.E1006Q	p.E1006Q							19	3234	-								Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Missense_Mutation	SNP	ENST00000262189.6	37	c.3016G>C	CCDS5931.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.69|19.69	3.874233|3.874233	0.72180|0.72180	.|.	.|.	ENSG00000055609|ENSG00000055609	ENST00000262189;ENST00000355193|ENST00000418673	D;D|.	0.88277|.	-2.36;-2.36|.	4.84|4.84	4.84|4.84	0.62591|0.62591	Zinc finger, PHD-finger (1);Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (1);Zinc finger, PHD-type (1);Protein kinase C-like, phorbol ester/diacylglycerol binding (1);Zinc finger, FYVE/PHD-type (1);|.	0.000000|.	0.46758|.	D|.	0.000265|.	T|.	0.66944|.	0.2841|.	L|L	0.44542|0.44542	1.39|1.39	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	0.999;1.0|.	D;D|.	0.85130|.	0.996;0.997|.	T|.	0.64445|.	-0.6406|.	10|.	0.72032|.	D|.	0.01|.	.|.	17.9358|17.9358	0.89012|0.89012	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	1006;67|.	Q8NEZ4;Q8NEZ4-2|.	MLL3_HUMAN;.|.	Q|S	1006|161	ENSP00000262189:E1006Q;ENSP00000347325:E1006Q|.	ENSP00000262189:E1006Q|.	E|X	-|-	1|2	0|2	MLL3|MLL3	151552595|151552595	1.000000|1.000000	0.71417|0.71417	0.958000|0.958000	0.39756|0.39756	0.999000|0.999000	0.98932|0.98932	7.767000|7.767000	0.85331|0.85331	2.236000|2.236000	0.73375|0.73375	0.650000|0.650000	0.86243|0.86243	GAG|TGA		0.433	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3			9	15	0	0	0	1	0	9	15					G	151921662	C	G	151921662	3	3	303	1	0	0	0	0	1	0	0	0	9622	835	29	5	11883	5	MLL3	7	151921662	Missense_Mutation	SNP	C	TCGA-KC-A7FD-01A-11D-A33T-08		151921662	7217001	27	14472											
XPO7	23039	broad.mit.edu	37	chr8	21833903	21833903	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	taaacttgaatgatgaaagtCagcatggcttgctcatgcaa	14	11	9	7	0	2	3	2	3	0	0	2	3	2	3	0	1	4	4	0	1	5	3			TCGA-KC-A7FD-01A-11D-A33T-08	TCGA-KC-A7FD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f255429b-c98f-4c60-ad83-3b67ddb553c5	0958a78b-72c4-4579-8811-b61a2b1178de	g.chr8:21833903C>T	ENST00000252512.9	+	7	734	c.634C>T	c.(634-636)Cag>Tag	p.Q212*	XPO7_ENST00000434536.1_Nonsense_Mutation_p.Q221*|XPO7_ENST00000433566.4_Nonsense_Mutation_p.Q213*|XPO7_ENST00000518017.1_3'UTR	NM_015024.4	NP_055839.3	Q9UIA9	XPO7_HUMAN	exportin 7	212					mRNA transport (GO:0051028)|protein export from nucleus (GO:0006611)	cytoplasm (GO:0005737)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	nuclear export signal receptor activity (GO:0005049)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(2)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				Colorectal(74;0.0187)|COAD - Colon adenocarcinoma(73;0.0724)		TGATGAAAGTCAGCATGGCTT	0.458																																						ENST00000434536.1																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(2)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(661-663)Cag>Tag		exportin 7							208	204	205					8																	21833903		1952	4179	6131	SO:0001587	stop_gained	23039				mRNA transport|protein export from nucleus|transmembrane transport	cytoplasm|nuclear pore	nuclear export signal receptor activity|protein transporter activity	g.chr8:21833903C>T	AF064729	CCDS47818.1	8p21	2011-04-13	2003-03-11	2003-03-14	ENSG00000130227	ENSG00000130227		"Exportins"	14108	protein-coding gene	gene with protein product		606140	"RAN binding protein 16"	RANBP16		11024021, 9872452	Standard	NM_015024		Approved	KIAA0745	uc003xaa.4	Q9UIA9	OTTHUMG00000163789	ENST00000252512.9:c.634C>T	8.37:g.21833903C>T	ENSP00000252512:p.Gln212*					XPO7_ENST00000252512.9_Nonsense_Mutation_p.Q212*|XPO7_ENST00000518017.1_3'UTR|XPO7_ENST00000433566.4_Nonsense_Mutation_p.Q213*	p.Q221*			Q9UIA9	XPO7_HUMAN		Colorectal(74;0.0187)|COAD - Colon adenocarcinoma(73;0.0724)	7	763	+			212					O94846|Q6PJK9|Q8NEK7	Nonsense_Mutation	SNP	ENST00000252512.9	37	c.661C>T	CCDS47818.1	.	.	.	.	.	.	.	.	.	.	C	36	5.946529	0.97134	.	.	ENSG00000130227	ENST00000434536;ENST00000252512;ENST00000433566	.	.	.	5.79	5.79	0.91817	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06757	T	0.87	-12.1013	19.6226	0.95665	0.0:1.0:0.0:0.0	.	.	.	.	X	221;212;213	.	ENSP00000252512:Q212X	Q	+	1	0	XPO7	21889849	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.796000	0.85898	2.741000	0.93983	0.655000	0.94253	CAG		0.458	XPO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375494.1	NM_015024		5	106	0	0	0	1	0	5	106					T	21833903	C	T	21833903	4	4	303	1	0	0	0	0	0	1	0	0	17446	827	29	3	712	3	XPO7	8	21833903	Nonsense_Mutation	SNP	C	TCGA-KC-A7FD-01A-11D-A33T-08		21833903	124530119	28	14473											
XPO7	23039	broad.mit.edu	37	chr8	21842352	21842352	+	Splice_Site	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacattgcagtgcaggagggTgagtgtgcagcgtgctggga	8	8	19	6	1	0	1	0	1	0	0	0	4	0	3	0	3	5	4	0	3	0	1			TCGA-KC-A7FD-01A-11D-A33T-08	TCGA-KC-A7FD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f255429b-c98f-4c60-ad83-3b67ddb553c5	0958a78b-72c4-4579-8811-b61a2b1178de	g.chr8:21842352T>A	ENST00000252512.9	+	12	1571		c.e12+2		XPO7_ENST00000434536.1_Splice_Site|XPO7_ENST00000433566.4_Splice_Site	NM_015024.4	NP_055839.3	Q9UIA9	XPO7_HUMAN	exportin 7						mRNA transport (GO:0051028)|protein export from nucleus (GO:0006611)	cytoplasm (GO:0005737)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	nuclear export signal receptor activity (GO:0005049)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(2)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				Colorectal(74;0.0187)|COAD - Colon adenocarcinoma(73;0.0724)		TGCAGGAGGGTGAGTGTGCAG	0.567																																						ENST00000434536.1																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(2)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.e12+2		exportin 7							65	69	67					8																	21842352		2152	4267	6419	SO:0001630	splice_region_variant	23039				mRNA transport|protein export from nucleus|transmembrane transport	cytoplasm|nuclear pore	nuclear export signal receptor activity|protein transporter activity	g.chr8:21842352T>A	AF064729	CCDS47818.1	8p21	2011-04-13	2003-03-11	2003-03-14	ENSG00000130227	ENSG00000130227		"Exportins"	14108	protein-coding gene	gene with protein product		606140	"RAN binding protein 16"	RANBP16		11024021, 9872452	Standard	NM_015024		Approved	KIAA0745	uc003xaa.4	Q9UIA9	OTTHUMG00000163789	ENST00000252512.9:c.1471+2T>A	8.37:g.21842352T>A						XPO7_ENST00000252512.9_Splice_Site|XPO7_ENST00000433566.4_Splice_Site				Q9UIA9	XPO7_HUMAN		Colorectal(74;0.0187)|COAD - Colon adenocarcinoma(73;0.0724)	12	1600	+								O94846|Q6PJK9|Q8NEK7	Splice_Site	SNP	ENST00000252512.9	37		CCDS47818.1	.	.	.	.	.	.	.	.	.	.	T	25.9	4.684672	0.88639	.	.	ENSG00000130227	ENST00000434536;ENST00000252512;ENST00000433566	.	.	.	5.38	5.38	0.77491	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.1078	0.72334	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	XPO7	21898298	1.000000	0.71417	1.000000	0.80357	0.920000	0.55202	7.993000	0.88291	2.052000	0.61016	0.477000	0.44152	.		0.567	XPO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375494.1	NM_015024	Intron	18	21	0	0	0	1	0	18	21					A	21842352	T	A	21842352	5	1	303	1	0	0	0	0	0	0	1	0	17446	1710	59	5	1571	5	XPO7	8	21842352	Splice_Site	SNP	T	TCGA-KC-A7FD-01A-11D-A33T-08	8449	21842352	124521670	29	14474											
RNF139	83940	broad.mit.edu	37	chr8	125498222	125498222	+	IGR	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttctatggtgcctacaacaCgtcagcttttggaattgagc	9	13	9	10	1	2	1	1	1	1	0	2	2	2	2	1	2	5	1	1	2	4	6			TCGA-KC-A7FD-01A-11D-A33T-08	TCGA-KC-A7FD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f255429b-c98f-4c60-ad83-3b67ddb553c5	0958a78b-72c4-4579-8811-b61a2b1178de	g.chr8:125498222C>A	ENST00000276692.6	-	0	1018				RNF139_ENST00000303545.3_Missense_Mutation_p.T111K|RP11-158K1.3_ENST00000518639.1_RNA	NM_032026.3	NP_114415.1	Q6P1N9	TATD1_HUMAN	TatD DNase domain containing 1						DNA catabolic process (GO:0006308)	intracellular organelle (GO:0043229)|nucleus (GO:0005634)	deoxyribonuclease activity (GO:0004536)|endodeoxyribonuclease activity, producing 5'-phosphomonoesters (GO:0016888)|metal ion binding (GO:0046872)			endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)	15	Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)			GCCTACAACACGTCAGCTTTT	0.428																																						ENST00000303545.3																			0				breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|liver(1)|lung(4)|prostate(1)|skin(1)	20						c.(331-333)aCg>aAg		ring finger protein 139							176	151	159					8																	125498222		2203	4300	6503	SO:0001628	intergenic_variant	11236				negative regulation of cell proliferation|regulation of protein ubiquitination	endoplasmic reticulum membrane|integral to membrane	protein binding|receptor activity|ubiquitin-protein ligase activity|zinc ion binding	g.chr8:125498222C>A	AF212250	CCDS6351.1, CCDS55273.1	8q24.13	2004-06-07			ENSG00000147687	ENSG00000147687			24220	protein-coding gene	gene with protein product						12477932	Standard	NM_032026		Approved	CDA11	uc003yrd.2	Q6P1N9	OTTHUMG00000165068		8.37:g.125498222C>A							p.T111K	NM_007218.3	NP_009149.2	Q8WU17	RN139_HUMAN	STAD - Stomach adenocarcinoma(47;0.00288)		2	704	+	Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108)		111					B2R5J0|Q8TD02|Q9BY40	Missense_Mutation	SNP	ENST00000276692.6	37	c.332C>A	CCDS6351.1	.	.	.	.	.	.	.	.	.	.	C	10.29	1.309401	0.23821	.	.	ENSG00000170881	ENST00000303545	T	0.21932	1.98	5.06	5.06	0.68205	.	0.424638	0.26887	N	0.021985	T	0.14098	0.0341	N	0.19112	0.55	0.37377	D	0.911886	B	0.13594	0.008	B	0.11329	0.006	T	0.07424	-1.0773	10	0.05721	T	0.95	-3.044	18.822	0.92100	0.0:1.0:0.0:0.0	.	111	Q8WU17	RN139_HUMAN	K	111	ENSP00000304051:T111K	ENSP00000304051:T111K	T	+	2	0	RNF139	125567403	0.999000	0.42202	0.998000	0.56505	0.983000	0.72400	4.288000	0.59007	2.501000	0.84356	0.650000	0.86243	ACG		0.428	TATDN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381655.1	NM_032026		7	99	1	0	8.12818e-05	1	8.47163e-05	7	99					A	125498222	C	A	125498222	1	1	303	0	1	0	0	0	0	0	0	0	13442	536	19	5		5	RNF139	8	125498222	IGR	SNP	C	TCGA-KC-A7FD-01A-11D-A33T-08	103655870	125498222	20865800	30	14475											
NFX1	4799	broad.mit.edu	37	chr9	33313652	33313652	+	Splice_Site	SNP	G	G	T																															tacatctattgtctttacagGcacacagttcgctgtggtca																								rs557655235	byFrequency	TCGA-KC-A7FD-01A-11D-A33T-08	TCGA-KC-A7FD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f255429b-c98f-4c60-ad83-3b67ddb553c5	0958a78b-72c4-4579-8811-b61a2b1178de	g.chr9:33313652G>T	ENST00000379540.3	+	7	1511	c.1449G>T	c.(1447-1449)agG>agT	p.R483S	NFX1_ENST00000318524.6_Splice_Site_p.R483S|NFX1_ENST00000379521.4_Splice_Site_p.R483S	NM_002504.4	NP_002495.2	Q12986	NFX1_HUMAN	nuclear transcription factor, X-box binding 1	483					inflammatory response (GO:0006954)|negative regulation of MHC class II biosynthetic process (GO:0045347)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(4)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	25			LUSC - Lung squamous cell carcinoma(29;0.00506)	GBM - Glioblastoma multiforme(74;0.224)		GTCTTTACAGGCACACAGTTC	0.478																																						ENST00000379540.3																			0				central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(4)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	25						c.e7-1		nuclear transcription factor, X-box binding 1							152	138	143					9																	33313652		2203	4300	6503	SO:0001630	splice_region_variant	0				inflammatory response|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|ligase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr9:33313652G>T	U19759	CCDS6538.1, CCDS6539.1, CCDS6540.1	9p12	2013-12-13			ENSG00000086102	ENSG00000086102			7803	protein-coding gene	gene with protein product		603255				7964459, 2511169	Standard	NM_002504		Approved	NFX2, MGC20369, Tex42, TEG-42	uc003zsq.3	Q12986	OTTHUMG00000019772	ENST00000379540.3:c.1449-1G>T	9.37:g.33313652G>T						NFX1_ENST00000379521.4_Splice_Site_p.R483_splice|NFX1_ENST00000318524.6_Splice_Site_p.R483_splice	p.R483_splice	NM_002504.4	NP_002495.2	Q12986	NFX1_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.00506)	GBM - Glioblastoma multiforme(74;0.224)	7	1511	+			483					A8K6H8|Q5VXW6|Q96EL5|Q9BXI1	Splice_Site	SNP	ENST00000379540.3	37	c.1448_splice	CCDS6538.1	.	.	.	.	.	.	.	.	.	.	G	1.616	-0.522805	0.04141	.	.	ENSG00000086102	ENST00000379540;ENST00000379521;ENST00000536210;ENST00000318524	T;T;T	0.39787	1.06;1.06;1.06	5.4	3.39	0.38822	.	0.042974	0.85682	D	0.000000	T	0.11067	0.0270	N	0.00630	-1.315	0.31195	N	0.700508	B;B;B;B;B	0.13145	0.007;0.004;0.0;0.002;0.001	B;B;B;B;B	0.09377	0.003;0.001;0.001;0.002;0.004	T	0.14839	-1.0458	9	.	.	.	.	5.348	0.16020	0.1047:0.0:0.6469:0.2485	.	483;367;483;483;483	F5GXD0;A0JLR2;Q12986;Q12986-2;Q12986-3	.;.;NFX1_HUMAN;.;.	S	483	ENSP00000368856:R483S;ENSP00000368836:R483S;ENSP00000317695:R483S	.	R	+	3	2	NFX1	33303652	1.000000	0.71417	1.000000	0.80357	0.627000	0.37826	4.477000	0.60223	1.282000	0.44496	0.579000	0.79373	AGG		0.478	NFX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052069.1		Missense_Mutation	32	56	1	0	4.11147e-13	1	4.47425e-13	32	56					T	33313652	G	T	33313652	5	4	303	1	0	0	0	0	0	0	1	0	10387	1217	42	5	1475	5	NFX1	9	33313652	Splice_Site	SNP	G	TCGA-KC-A7FD-01A-11D-A33T-08		33313652	107899779	31	14476	71	2									
NFX1	4799	broad.mit.edu	37	chr9	33313653	33313653	+	Splice_Site	SNP	C	C	T																															acatctattgtctttacaggCacacagttcgctgtggtcag																										TCGA-KC-A7FD-01A-11D-A33T-08	TCGA-KC-A7FD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f255429b-c98f-4c60-ad83-3b67ddb553c5	0958a78b-72c4-4579-8811-b61a2b1178de	g.chr9:33313653C>T	ENST00000379540.3	+	7	1512	c.1450C>T	c.(1450-1452)Cac>Tac	p.H484Y	NFX1_ENST00000318524.6_Splice_Site_p.H484Y|NFX1_ENST00000379521.4_Splice_Site_p.H484Y	NM_002504.4	NP_002495.2	Q12986	NFX1_HUMAN	nuclear transcription factor, X-box binding 1	484					inflammatory response (GO:0006954)|negative regulation of MHC class II biosynthetic process (GO:0045347)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(4)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	25			LUSC - Lung squamous cell carcinoma(29;0.00506)	GBM - Glioblastoma multiforme(74;0.224)		TCTTTACAGGCACACAGTTCG	0.483																																						ENST00000379540.3																			0				central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(4)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	25						c.e7-1		nuclear transcription factor, X-box binding 1							153	139	144					9																	33313653		2203	4300	6503	SO:0001630	splice_region_variant	0				inflammatory response|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|ligase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr9:33313653C>T	U19759	CCDS6538.1, CCDS6539.1, CCDS6540.1	9p12	2013-12-13			ENSG00000086102	ENSG00000086102			7803	protein-coding gene	gene with protein product		603255				7964459, 2511169	Standard	NM_002504		Approved	NFX2, MGC20369, Tex42, TEG-42	uc003zsq.3	Q12986	OTTHUMG00000019772	ENST00000379540.3:c.1449-1C>T	9.37:g.33313653C>T						NFX1_ENST00000379521.4_Splice_Site_p.H484_splice|NFX1_ENST00000318524.6_Splice_Site_p.H484_splice	p.H484_splice	NM_002504.4	NP_002495.2	Q12986	NFX1_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.00506)	GBM - Glioblastoma multiforme(74;0.224)	7	1512	+			484					A8K6H8|Q5VXW6|Q96EL5|Q9BXI1	Splice_Site	SNP	ENST00000379540.3	37	c.1448_splice	CCDS6538.1	.	.	.	.	.	.	.	.	.	.	C	14.28	2.489158	0.44249	.	.	ENSG00000086102	ENST00000379540;ENST00000379521;ENST00000536210;ENST00000318524	T;T;T	0.28666	1.6;1.6;1.6	5.4	5.4	0.78164	.	0.057309	0.85682	D	0.000000	T	0.34861	0.0912	N	0.15975	0.35	0.34501	D	0.706057	D;D;B;D;B	0.76494	0.999;0.976;0.009;0.975;0.031	D;P;B;P;B	0.65010	0.931;0.558;0.029;0.743;0.054	T	0.40403	-0.9565	10	0.27082	T	0.32	-4.5428	14.7195	0.69294	0.0:1.0:0.0:0.0	.	484;368;484;484;484	F5GXD0;A0JLR2;Q12986;Q12986-2;Q12986-3	.;.;NFX1_HUMAN;.;.	Y	484	ENSP00000368856:H484Y;ENSP00000368836:H484Y;ENSP00000317695:H484Y	ENSP00000317695:H484Y	H	+	1	0	NFX1	33303653	1.000000	0.71417	1.000000	0.80357	0.652000	0.38707	4.617000	0.61204	2.538000	0.85594	0.579000	0.79373	CAC		0.483	NFX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052069.1		Missense_Mutation	33	57	0	0	0	1	0	33	57					T	33313653	C	T	33313653	5	4	303	1	0	0	0	0	0	0	1	0	10387	724	25	3	1476	3	NFX1	9	33313653	Splice_Site	SNP	C	TCGA-KC-A7FD-01A-11D-A33T-08	1	33313653	107899778	32	14477	71	2									
VCP	7415	broad.mit.edu	37	chr9	35062992	35062992	+	Missense_Mutation	SNP	A	A	G																															caccattgatcaagaagaagAaggctccagtctcatttgct																										TCGA-KC-A7FD-01A-11D-A33T-08	TCGA-KC-A7FD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f255429b-c98f-4c60-ad83-3b67ddb553c5	0958a78b-72c4-4579-8811-b61a2b1178de	g.chr9:35062992A>G	ENST00000358901.6	-	7	1689	c.794T>C	c.(793-795)tTc>tCc	p.F265S		NM_007126.3	NP_009057.1	P55072	TERA_HUMAN	valosin containing protein	265					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|aggresome assembly (GO:0070842)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER to Golgi vesicle-mediated transport (GO:0006888)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|establishment of protein localization (GO:0045184)|positive regulation of Lys63-specific deubiquitinase activity (GO:1903007)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein complex assembly (GO:0031334)|positive regulation of protein K63-linked deubiquitination (GO:1903006)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein homooligomerization (GO:0051260)|protein N-linked glycosylation via asparagine (GO:0018279)|protein ubiquitination (GO:0016567)|regulation of apoptotic process (GO:0042981)|retrograde protein transport, ER to cytosol (GO:0030970)|translesion synthesis (GO:0019985)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|Hrd1p ubiquitin ligase complex (GO:0000836)|intracellular membrane-bounded organelle (GO:0043231)|lipid particle (GO:0005811)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|proteasome complex (GO:0000502)|site of double-strand break (GO:0035861)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|deubiquitinase activator activity (GO:0035800)|lipid binding (GO:0008289)|poly(A) RNA binding (GO:0044822)|polyubiquitin binding (GO:0031593)|protein domain specific binding (GO:0019904)|protein phosphatase binding (GO:0019903)|ubiquitin-specific protease binding (GO:1990381)			breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	24			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			CAAGAAGAAGAAGGCTCCAGT	0.463																																						ENST00000358901.6																			0				breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	24						c.(793-795)tTc>tCc		valosin containing protein							207	203	205					9																	35062992		2203	4300	6503	SO:0001583	missense	7415				activation of caspase activity|double-strand break repair|endoplasmic reticulum unfolded protein response|ER-associated protein catabolic process|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination|retrograde protein transport, ER to cytosol	cytosol|endoplasmic reticulum|microsome|nucleus|proteasome complex	ATP binding|ATPase activity|lipid binding|polyubiquitin binding|protein domain specific binding|protein phosphatase binding	g.chr9:35062992A>G	AC004472	CCDS6573.1	9p13.3	2014-09-17	2011-01-25		ENSG00000165280	ENSG00000165280		"ATPases / AAA-type"	12666	protein-coding gene	gene with protein product		601023	"valosin-containing protein"			8595912, 7553851	Standard	NM_007126		Approved	IBMPFD, p97	uc003zvy.2	P55072	OTTHUMG00000019855	ENST00000358901.6:c.794T>C	9.37:g.35062992A>G	ENSP00000351777:p.Phe265Ser						p.F265S	NM_007126.3	NP_009057.1	P55072	TERA_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)		7	1689	-			265					B2R5T8|Q0V924|Q2TAI5|Q969G7|Q9UCD5	Missense_Mutation	SNP	ENST00000358901.6	37	c.794T>C	CCDS6573.1	.	.	.	.	.	.	.	.	.	.	A	23.8	4.456978	0.84317	.	.	ENSG00000165280	ENST00000358901	D	0.94232	-3.38	5.9	5.9	0.94986	ATPase, AAA-type, core (1);ATPase, AAA+ type, core (1);	0.000000	0.85682	D	0.000000	D	0.89403	0.6705	N	0.00621	-1.32	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.93626	0.6952	10	0.49607	T	0.09	-20.8728	16.3317	0.83023	1.0:0.0:0.0:0.0	.	265	P55072	TERA_HUMAN	S	265	ENSP00000351777:F265S	ENSP00000351777:F265S	F	-	2	0	VCP	35052992	1.000000	0.71417	1.000000	0.80357	0.691000	0.40173	7.497000	0.81536	2.264000	0.75181	0.533000	0.62120	TTC		0.463	VCP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052290.1	NM_007126		29	86	0	0	0	1	0	29	86					G	35062992	A	G	35062992	3	3	303	1	0	0	0	0	1	0	0	0	17137	246	9	4	1670	4	VCP	9	35062992	Missense_Mutation	SNP	A	TCGA-KC-A7FD-01A-11D-A33T-08	1749339	35062992	106150439	33	14478	72	2									
VCP	7415	broad.mit.edu	37	chr9	35062993	35062993	+	Missense_Mutation	SNP	A	A	C																															accattgatcaagaagaagaAggctccagtctcatttgcta																										TCGA-KC-A7FD-01A-11D-A33T-08	TCGA-KC-A7FD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f255429b-c98f-4c60-ad83-3b67ddb553c5	0958a78b-72c4-4579-8811-b61a2b1178de	g.chr9:35062993A>C	ENST00000358901.6	-	7	1688	c.793T>G	c.(793-795)Ttc>Gtc	p.F265V		NM_007126.3	NP_009057.1	P55072	TERA_HUMAN	valosin containing protein	265					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|aggresome assembly (GO:0070842)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER to Golgi vesicle-mediated transport (GO:0006888)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|establishment of protein localization (GO:0045184)|positive regulation of Lys63-specific deubiquitinase activity (GO:1903007)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein complex assembly (GO:0031334)|positive regulation of protein K63-linked deubiquitination (GO:1903006)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein homooligomerization (GO:0051260)|protein N-linked glycosylation via asparagine (GO:0018279)|protein ubiquitination (GO:0016567)|regulation of apoptotic process (GO:0042981)|retrograde protein transport, ER to cytosol (GO:0030970)|translesion synthesis (GO:0019985)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|Hrd1p ubiquitin ligase complex (GO:0000836)|intracellular membrane-bounded organelle (GO:0043231)|lipid particle (GO:0005811)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|proteasome complex (GO:0000502)|site of double-strand break (GO:0035861)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|deubiquitinase activator activity (GO:0035800)|lipid binding (GO:0008289)|poly(A) RNA binding (GO:0044822)|polyubiquitin binding (GO:0031593)|protein domain specific binding (GO:0019904)|protein phosphatase binding (GO:0019903)|ubiquitin-specific protease binding (GO:1990381)			breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	24			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			AAGAAGAAGAAGGCTCCAGTC	0.468																																						ENST00000358901.6																			0				breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	24						c.(793-795)Ttc>Gtc		valosin containing protein							208	204	206					9																	35062993		2203	4300	6503	SO:0001583	missense	7415				activation of caspase activity|double-strand break repair|endoplasmic reticulum unfolded protein response|ER-associated protein catabolic process|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination|retrograde protein transport, ER to cytosol	cytosol|endoplasmic reticulum|microsome|nucleus|proteasome complex	ATP binding|ATPase activity|lipid binding|polyubiquitin binding|protein domain specific binding|protein phosphatase binding	g.chr9:35062993A>C	AC004472	CCDS6573.1	9p13.3	2014-09-17	2011-01-25		ENSG00000165280	ENSG00000165280		"ATPases / AAA-type"	12666	protein-coding gene	gene with protein product		601023	"valosin-containing protein"			8595912, 7553851	Standard	NM_007126		Approved	IBMPFD, p97	uc003zvy.2	P55072	OTTHUMG00000019855	ENST00000358901.6:c.793T>G	9.37:g.35062993A>C	ENSP00000351777:p.Phe265Val						p.F265V	NM_007126.3	NP_009057.1	P55072	TERA_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)		7	1688	-			265					B2R5T8|Q0V924|Q2TAI5|Q969G7|Q9UCD5	Missense_Mutation	SNP	ENST00000358901.6	37	c.793T>G	CCDS6573.1	.	.	.	.	.	.	.	.	.	.	A	28.8	4.949812	0.92660	.	.	ENSG00000165280	ENST00000358901	D	0.94687	-3.49	5.9	5.9	0.94986	ATPase, AAA-type, core (1);ATPase, AAA+ type, core (1);	0.000000	0.85682	D	0.000000	D	0.93038	0.7784	N	0.03608	-0.345	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95489	0.8567	10	0.72032	D	0.01	-20.8728	16.3317	0.83023	1.0:0.0:0.0:0.0	.	265	P55072	TERA_HUMAN	V	265	ENSP00000351777:F265V	ENSP00000351777:F265V	F	-	1	0	VCP	35052993	1.000000	0.71417	1.000000	0.80357	0.747000	0.42532	9.339000	0.96797	2.264000	0.75181	0.533000	0.62120	TTC		0.468	VCP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052290.1	NM_007126		27	86	0	0	0	1	0	27	86					C	35062993	A	C	35062993	3	2	303	1	0	0	0	0	1	0	0	0	17137	72	3	5	1671	5	VCP	9	35062993	Missense_Mutation	SNP	A	TCGA-KC-A7FD-01A-11D-A33T-08	1	35062993	106150438	34	14479	72	2									
CBWD6	644019	broad.mit.edu	37	chr9	69238279	69238279	+	Frame_Shift_Del	DEL	T	T	-																															ttcttctgggaccaagtctgTtttattaatgagaatgatat																										TCGA-KC-A7FD-01A-11D-A33T-08	TCGA-KC-A7FD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f255429b-c98f-4c60-ad83-3b67ddb553c5	0958a78b-72c4-4579-8811-b61a2b1178de	g.chr9:69238279delT	ENST00000377457.5	-	8	718	c.613delA	c.(613-615)acafs	p.T205fs	CBWD6_ENST00000382399.4_Frame_Shift_Del_p.T185fs|CBWD6_ENST00000377449.1_Frame_Shift_Del_p.T169fs	NM_001085457.1	NP_001078926.1	Q4V339	CBWD6_HUMAN	COBW domain containing 6	205							ATP binding (GO:0005524)			lung(4)	4						ACCAAGTCTGTTTTATTAATG	0.313																																						ENST00000377457.5																			0				lung(4)	4						c.(613-615)cafs		COBW domain containing 6							102	144	128					9																	69238279		1337	2292	3629	SO:0001589	frameshift_variant	644019						ATP binding	g.chr9:69238279delT		CCDS43827.1	9q13	2006-06-30			ENSG00000204790	ENSG00000204790			31978	protein-coding gene	gene with protein product							Standard	NM_001085457		Approved	OTTHUMG00000066820	uc004afj.4	Q4V339	OTTHUMG00000066820	ENST00000377457.5:c.613delA	9.37:g.69238279delT	ENSP00000366677:p.Thr205fs					CBWD6_ENST00000382399.4_Frame_Shift_Del_p.T185fs|CBWD6_ENST00000377449.1_Frame_Shift_Del_p.T169fs	p.T205fs	NM_001085457.1	NP_001078926.1	Q4V339	CBWD6_HUMAN			8	718	-			205						Frame_Shift_Del	DEL	ENST00000377457.5	37	c.613delA	CCDS43827.1																																																																																				0.313	CBWD6-001	KNOWN	non_canonical_polymorphism|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143172.2	XM_928822		79	202						79	202	---	---	---	---	-	69238279	T	-	69238279	7	5	303	1	0	1	0	1	0	0	0	0	2716	1725	60	0	606	0	CBWD6	9	69238279	Frame_Shift_Del	DEL	T	TCGA-KC-A7FD-01A-11D-A33T-08	34175286	69238279	71975152	35	14480											
ACTL7B	10880	broad.mit.edu	37	chr9	111617958	111617958	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtcgccagcgtcggccgcctCggggcagcgtttgcccacgg	3	6	16	16	7	0	0	0	0	0	0	3	0	0	0	4	4	3	2	4	4	0	1			TCGA-KC-A7FD-01A-11D-A33T-08	TCGA-KC-A7FD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f255429b-c98f-4c60-ad83-3b67ddb553c5	0958a78b-72c4-4579-8811-b61a2b1178de	g.chr9:111617958C>T	ENST00000374667.3	-	1	1281	c.253G>A	c.(253-255)Gag>Aag	p.E85K		NM_006686.3	NP_006677.1	Q9Y614	ACL7B_HUMAN	actin-like 7B	85						actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	structural constituent of cytoskeleton (GO:0005200)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						TCGGCCGCCTCGGGGCAGCGT	0.652																																						ENST00000374667.3																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						c.(253-255)Gag>Aag		actin-like 7B							73	75	74					9																	111617958		2203	4300	6503	SO:0001583	missense	10880					actin cytoskeleton|cytoplasm	structural constituent of cytoskeleton	g.chr9:111617958C>T	BC033789	CCDS6771.1	9q31	2009-05-15			ENSG00000148156	ENSG00000148156			162	protein-coding gene	gene with protein product		604304				10373328, 12907721	Standard	NM_006686		Approved	Tact1	uc004bdi.3	Q9Y614	OTTHUMG00000020462	ENST00000374667.3:c.253G>A	9.37:g.111617958C>T	ENSP00000363799:p.Glu85Lys						p.E85K	NM_006686.3	NP_006677.1	Q9Y614	ACL7B_HUMAN			1	1281	-			85					B2R9Q2|Q5JSV1	Missense_Mutation	SNP	ENST00000374667.3	37	c.253G>A	CCDS6771.1	.	.	.	.	.	.	.	.	.	.	C	9.898	1.206026	0.22205	.	.	ENSG00000148156	ENST00000374667	D	0.97066	-4.23	4.27	3.35	0.38373	.	1.816400	0.03688	U	0.246632	D	0.93439	0.7907	N	0.19112	0.55	0.18873	N	0.999982	P	0.35328	0.495	B	0.29598	0.104	D	0.87186	0.2231	10	0.87932	D	0	.	10.6347	0.45558	0.0:0.6202:0.3798:0.0	.	85	Q9Y614	ACL7B_HUMAN	K	85	ENSP00000363799:E85K	ENSP00000363799:E85K	E	-	1	0	ACTL7B	110657779	0.011000	0.17503	0.014000	0.15608	0.406000	0.30931	0.404000	0.20999	0.977000	0.38444	0.655000	0.94253	GAG		0.652	ACTL7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053571.1	NM_006686		51	77	0	0	0	1	0	51	77					T	111617958	C	T	111617958	3	4	303	1	0	0	0	0	1	0	0	0	201	893	31	2	998	2	ACTL7B	9	111617958	Missense_Mutation	SNP	C	TCGA-KC-A7FD-01A-11D-A33T-08	42379679	111617958	29595473	36	14481											
ZNF488	118738	broad.mit.edu	37	chr10	48370748	48370748	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggccgggatgtgggcagtgcGgagctggcactgttggtagc	5	8	20	8	2	0	0	0	0	0	0	0	2	0	2	1	6	3	5	1	6	1	2	rs147280746		TCGA-KC-A7FD-01A-11D-A33T-08	TCGA-KC-A7FD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f255429b-c98f-4c60-ad83-3b67ddb553c5	0958a78b-72c4-4579-8811-b61a2b1178de	g.chr10:48370748G>A	ENST00000395702.2	+	2	443	c.216G>A	c.(214-216)gcG>gcA	p.A72A	ZNF488_ENST00000494156.1_Intron|ZNF488_ENST00000586537.1_Intron			Q96MN9	ZN488_HUMAN	zinc finger protein 488	72			A -> V (in dbSNP:rs35618062).		negative regulation of transcription, DNA-templated (GO:0045892)|oligodendrocyte development (GO:0014003)|positive regulation of oligodendrocyte differentiation (GO:0048714)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|ovary(2)	14						TGGGCAGTGCGGAGCTGGCAC	0.701																																						ENST00000395702.2																			0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|ovary(2)	14						c.(214-216)gcG>gcA		zinc finger protein 488		G		0,4398		0,0,2199	24	31	29		216	-9.7	0	10	dbSNP_134	29	1,8595		0,1,4297	no	coding-synonymous	ZNF488	NM_153034.2		0,1,6496	AA,AG,GG		0.0116,0.0,0.0077		72/341	48370748	1,12993	2199	4298	6497	SO:0001819	synonymous_variant	118738				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr10:48370748G>A	AK056666	CCDS73120.1	10q11.22	2014-04-10			ENSG00000165388	ENSG00000265763		"Zinc fingers, C2H2-type"	23535	protein-coding gene	gene with protein product							Standard	NM_153034		Approved	FLJ32104	uc001jex.3	Q96MN9	OTTHUMG00000188322	ENST00000395702.2:c.216G>A	10.37:g.48370748G>A						ZNF488_ENST00000586537.1_Intron|ZNF488_ENST00000494156.1_Intron	p.A72A			Q96MN9	ZN488_HUMAN			2	443	+			72		A -> V (in dbSNP:rs35618062).			Q05CE0	Silent	SNP	ENST00000395702.2	37	c.216G>A	CCDS7217.1																																																																																				0.701	ZNF488-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000314632.1	NM_153034		6	47	0	0	0	1	0	6	47					A	48370748	G	A	48370748	2	1	303	1	0	0	0	0	0	0	0	1	17937	1103	39	2		2	ZNF488	10	48370748	Silent	SNP	G	TCGA-KC-A7FD-01A-11D-A33T-08		48370748	87163999	37	14482											
MTG1	92170	broad.mit.edu	37	chr10	135215702	135215702	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggacactcctggcgtgctggCtcctcggattgaaagtgtgg	6	10	15	10	2	0	1	0	1	0	0	3	3	2	3	2	5	1	2	2	5	1	1			TCGA-KC-A7FD-01A-11D-A33T-08	TCGA-KC-A7FD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f255429b-c98f-4c60-ad83-3b67ddb553c5	0958a78b-72c4-4579-8811-b61a2b1178de	g.chr10:135215702C>T	ENST00000317502.6	+	8	673	c.623C>T	c.(622-624)gCt>gTt	p.A208V	RP11-108K14.8_ENST00000468317.2_Missense_Mutation_p.A213V|MTG1_ENST00000477902.2_Missense_Mutation_p.A167V	NM_138384.2	NP_612393.2	Q9BT17	MTG1_HUMAN	mitochondrial ribosome-associated GTPase 1	208	CP-type G. {ECO:0000255|PROSITE- ProRule:PRU01058}.				GTP catabolic process (GO:0006184)|regulation of mitochondrial translation (GO:0070129)|regulation of respiratory system process (GO:0044065)|ribosome biogenesis (GO:0042254)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial ribosome (GO:0005761)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			endometrium(1)|large_intestine(5)|lung(5)|ovary(2)|skin(1)|urinary_tract(1)	15		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;1.21e-06)|all cancers(32;1.69e-06)|Epithelial(32;1.94e-06)		GGCGTGCTGGCTCCTCGGATT	0.687																																						ENST00000468317.2																			0											c.(637-639)gCt>gTt									92	94	93					10																	135215702		2203	4300	6503	SO:0001583	missense	0							g.chr10:135215702C>T		CCDS31320.1	10q26.3	2013-05-24	2013-05-24	2006-01-09	ENSG00000148824	ENSG00000148824			32159	protein-coding gene	gene with protein product			"GTP-binding protein 7", "GTP-binding protein 7 (putative)", "mitochondrial GTPase 1 homolog (S. cerevisiae)"	GTPBP7		12808030, 23396448	Standard	NM_138384		Approved		uc001lnd.3	Q9BT17	OTTHUMG00000166564	ENST00000317502.6:c.623C>T	10.37:g.135215702C>T	ENSP00000323047:p.Ala208Val					MTG1_ENST00000477902.2_Missense_Mutation_p.A167V|MTG1_ENST00000317502.6_Missense_Mutation_p.A208V	p.A213V							9	893	+								Q5VWX8|Q6PIY9|Q8IYJ4|Q8NC48|Q9BVU8	Missense_Mutation	SNP	ENST00000317502.6	37	c.638C>T	CCDS31320.1	.	.	.	.	.	.	.	.	.	.	c	14.25	2.478404	0.44044	.	.	ENSG00000254536;ENSG00000148824;ENSG00000148824	ENST00000468317;ENST00000317502;ENST00000432508	T;T;T	0.17691	2.26;2.26;2.54	5.59	3.67	0.42095	GTP-binding domain, HSR1-related (1);	0.172756	0.40554	N	0.001078	T	0.12178	0.0296	N	0.16862	0.45	0.31065	N	0.713673	B;P	0.37276	0.024;0.589	B;B	0.39771	0.037;0.309	T	0.06734	-1.0810	10	0.29301	T	0.29	-1.0E-4	12.6206	0.56601	0.3019:0.6981:0.0:0.0	.	157;208	E7EVK2;Q9BT17	.;MTG1_HUMAN	V	213;208;157	ENSP00000436767:A213V;ENSP00000323047:A208V;ENSP00000393480:A157V	ENSP00000323047:A208V	A	+	2	0	AL360181.1;MTG1	135065692	1.000000	0.71417	0.971000	0.41717	0.665000	0.39181	3.596000	0.54024	0.668000	0.31126	0.446000	0.29264	GCT		0.687	MTG1-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051166.1	NM_138384		60	90	0	0	0	1	0	60	90					T	135215702	C	T	135215702	3	4	303	1	0	0	0	0	1	0	0	0	9926	797	28	3	653	3	MTG1	10	135215702	Missense_Mutation	SNP	C	TCGA-KC-A7FD-01A-11D-A33T-08	86844954	135215702	319045	38	14483											
RBMXL2	27288	broad.mit.edu	37	chr11	7111257	7111257	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cgggggacaccgccatcttaCggaggaggaggccgctacga	9	4	16	12	5	1	0	0	0	1	0	1	5	1	4	3	6	2	1	3	6	2	2			TCGA-KC-A7FD-01A-11D-A33T-08	TCGA-KC-A7FD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f255429b-c98f-4c60-ad83-3b67ddb553c5	0958a78b-72c4-4579-8811-b61a2b1178de	g.chr11:7111257C>T	ENST00000306904.5	+	1	1093	c.906C>T	c.(904-906)taC>taT	p.Y302Y		NM_014469.4	NP_055284.3	O75526	RMXL2_HUMAN	RNA binding motif protein, X-linked-like 2	302	Arg/Gly/Pro-rich.					nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15				Epithelial(150;5.14e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		CGCCATCTTACGGAGGAGGAG	0.662																																						ENST00000306904.5																			0				NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15						c.(904-906)taC>taT		RNA binding motif protein, X-linked-like 2							17	20	19					11																	7111257		2195	4290	6485	SO:0001819	synonymous_variant	27288					nucleus|ribonucleoprotein complex	nucleotide binding|RNA binding	g.chr11:7111257C>T	AF069682	CCDS7777.1	11p15	2013-07-16				ENSG00000170748		"RNA binding motif (RRM) containing"	17886	protein-coding gene	gene with protein product	"heterogeneous nuclear ribonucleoprotein G T"	605444				10958650	Standard	NM_014469		Approved	HNRNPG-T, HNRPGT	uc001mfc.2	O75526		ENST00000306904.5:c.906C>T	11.37:g.7111257C>T							p.Y302Y	NM_014469.4	NP_055284.3	O75526	HNRGT_HUMAN		Epithelial(150;5.14e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)	1	1093	+			302			Arg/Gly/Pro-rich.		Q6PEZ2|Q9NQU0	Silent	SNP	ENST00000306904.5	37	c.906C>T	CCDS7777.1																																																																																				0.662	RBMXL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384552.1	NM_014469		4	20	0	0	0	1	0	4	20					T	7111257	C	T	7111257	2	4	303	1	0	0	0	0	0	0	0	1	13154	547	19	1		1	RBMXL2	11	7111257	Silent	SNP	C	TCGA-KC-A7FD-01A-11D-A33T-08		7111257	127895259	39	14484											
SLC17A6	57084	broad.mit.edu	37	chr11	22380963	22380963	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atcttttctatttcagggttTtcggagctgccatacttctt	6	19	7	9	1	4	0	1	0	3	0	5	1	4	1	1	2	3	2	1	2	2	9			TCGA-KC-A7FD-01A-11D-A33T-08	TCGA-KC-A7FD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f255429b-c98f-4c60-ad83-3b67ddb553c5	0958a78b-72c4-4579-8811-b61a2b1178de	g.chr11:22380963T>A	ENST00000263160.3	+	4	900	c.463T>A	c.(463-465)Ttc>Atc	p.F155I	CTD-2140G10.4_ENST00000534543.1_RNA	NM_020346.2	NP_065079.1	Q9P2U8	VGLU2_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 6	155					ion transport (GO:0006811)|neurotransmitter uptake (GO:0001504)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|synaptic vesicle membrane (GO:0030672)	L-glutamate transmembrane transporter activity (GO:0005313)|symporter activity (GO:0015293)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)	50						TTTCAGGGTTTTCGGAGCTGC	0.358																																						ENST00000263160.3																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)	50						c.(463-465)Ttc>Atc		solute carrier family 17 (vesicular glutamate transporter), member 6							107	98	101					11																	22380963		2203	4300	6503	SO:0001583	missense	57084				sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity	g.chr11:22380963T>A	AB032435	CCDS7856.1	11p14.3	2013-07-18	2013-07-18		ENSG00000091664	ENSG00000091664		"Solute carriers"	16703	protein-coding gene	gene with protein product	"vesicular glutamate transporter 2", "differentiation-associated Na-dependent inorganic phosphate cotransporter"	607563	"solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 6"			11306821	Standard	NM_020346		Approved	DNPI, VGLUT2	uc001mqk.3	Q9P2U8	OTTHUMG00000166063	ENST00000263160.3:c.463T>A	11.37:g.22380963T>A	ENSP00000263160:p.Phe155Ile						p.F155I	NM_020346.2	NP_065079.1	Q9P2U8	VGLU2_HUMAN			4	900	+			155					A6NKS2	Missense_Mutation	SNP	ENST00000263160.3	37	c.463T>A	CCDS7856.1	.	.	.	.	.	.	.	.	.	.	T	30	5.050669	0.93740	.	.	ENSG00000091664	ENST00000263160;ENST00000546171	T	0.58358	0.34	5.29	5.29	0.74685	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	T	0.68805	0.3041	L	0.58354	1.805	0.80722	D	1	D	0.71674	0.998	D	0.77557	0.99	T	0.70898	-0.4747	10	0.56958	D	0.05	.	15.5156	0.75822	0.0:0.0:0.0:1.0	.	155	Q9P2U8	VGLU2_HUMAN	I	155;43	ENSP00000263160:F155I	ENSP00000263160:F155I	F	+	1	0	SLC17A6	22337539	1.000000	0.71417	0.996000	0.52242	0.985000	0.73830	7.698000	0.84413	2.131000	0.65755	0.477000	0.44152	TTC		0.358	SLC17A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387671.1	NM_020346		13	25	0	0	0	1	0	13	25					A	22380963	T	A	22380963	3	1	303	1	0	0	0	0	1	0	0	0	14421	1841	64	5	477	5	SLC17A6	11	22380963	Missense_Mutation	SNP	T	TCGA-KC-A7FD-01A-11D-A33T-08	15269706	22380963	112625553	40	14485											
TYR	7299	broad.mit.edu	37	chr11	88911837	88911837	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tattccatattgggactggcGggatgcagaaaagtgtgaca	12	10	13	6	1	0	2	0	1	0	1	1	4	1	4	1	3	1	1	1	3	4	4	rs36006590	byFrequency	TCGA-KC-A7FD-01A-11D-A33T-08	TCGA-KC-A7FD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f255429b-c98f-4c60-ad83-3b67ddb553c5	0958a78b-72c4-4579-8811-b61a2b1178de	g.chr11:88911837G>A	ENST00000263321.5	+	1	1218	c.716G>A	c.(715-717)cGg>cAg	p.R239Q	TYR_ENST00000526139.1_3'UTR	NM_000372.4	NP_000363.1	P14679	TYRO_HUMAN	tyrosinase	239			R -> W (in OCA1A). {ECO:0000269|PubMed:11858948}.		cell proliferation (GO:0008283)|eye pigment biosynthetic process (GO:0006726)|melanin biosynthetic process from tyrosine (GO:0006583)|thymus development (GO:0048538)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|Golgi-associated vesicle (GO:0005798)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|melanosome (GO:0042470)|perinuclear region of cytoplasm (GO:0048471)	copper ion binding (GO:0005507)|monophenol monooxygenase activity (GO:0004503)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48		Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.0033)			Azelaic Acid(DB00548)|Mimosine(DB01055)|Monobenzone(DB00600)	TGGGACTGGCGGGATGCAGAA	0.473																																						ENST00000263321.5																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48	GRCh37	CM090092	TYR	M	rs36006590	c.(715-717)cGg>cAg		tyrosinase	Azelaic Acid(DB00548)|Mimosine(DB01055)|NADH(DB00157)	G	GLN/ARG	1,4401	2.1+/-5.4	0,1,2200	103	94	97		716	6.1	1	11	dbSNP_126	97	1,8597	1.2+/-3.3	0,1,4298	no	missense	TYR	NM_000372.4	43	0,2,6498	AA,AG,GG		0.0116,0.0227,0.0154	probably-damaging	239/530	88911837	2,12998	2201	4299	6500	SO:0001583	missense	7299				eye pigment biosynthetic process|melanin biosynthetic process from tyrosine|visual perception	Golgi-associated vesicle|integral to membrane|lysosome|melanosome membrane|perinuclear region of cytoplasm	copper ion binding|monophenol monooxygenase activity|protein heterodimerization activity|protein homodimerization activity	g.chr11:88911837G>A	M27160	CCDS8284.1	11q14.3	2013-09-27	2012-09-28		ENSG00000077498	ENSG00000077498	1.14.18.1		12442	protein-coding gene	gene with protein product	"oculocutaneous albinism IA"	606933					Standard	NM_000372		Approved	OCAIA, OCA1A, OCA1	uc001pcs.3	P14679	OTTHUMG00000167294	ENST00000263321.5:c.716G>A	11.37:g.88911837G>A	ENSP00000263321:p.Arg239Gln					TYR_ENST00000526139.1_3'UTR	p.R239Q	NM_000372.4	NP_000363.1	P14679	TYRO_HUMAN			1	1218	+		Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.0033)	239		R -> W (in OCA1A).			Q15675|Q15676|Q15680|Q8TAK4|Q9BYY0|Q9BZX1	Missense_Mutation	SNP	ENST00000263321.5	37	c.716G>A	CCDS8284.1	.	.	.	.	.	.	.	.	.	.	G	28.0	4.881569	0.91740	2.27E-4	1.16E-4	ENSG00000077498	ENST00000263321	D	0.98234	-4.81	6.07	6.07	0.98685	Tyrosinase (1);Uncharacterised domain, di-copper centre (2);	0.000000	0.85682	D	0.000000	D	0.99086	0.9686	M	0.84511	2.7	0.58432	D	0.999993	D	0.89917	1.0	D	0.91635	0.999	D	0.99201	1.0873	9	.	.	.	.	20.6593	0.99626	0.0:0.0:1.0:0.0	rs36006590	239	P14679	TYRO_HUMAN	Q	239	ENSP00000263321:R239Q	.	R	+	2	0	TYR	88551485	1.000000	0.71417	0.969000	0.41365	0.988000	0.76386	9.357000	0.97099	2.885000	0.99019	0.655000	0.94253	CGG		0.473	TYR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394045.2	NM_000372		26	56	0	0	0	1	0	26	56					A	88911837	G	A	88911837	3	1	303	1	0	0	0	0	1	0	0	0	16810	1116	39	2	718	2	TYR	11	88911837	Missense_Mutation	SNP	G	TCGA-KC-A7FD-01A-11D-A33T-08	66530874	88911837	46094679	41	14486											
ATF7	11016	broad.mit.edu	37	chr12	53927005	53927005	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caggcatggtctgtccattaGcaagatgcatgacaagaggg	12	8	13	8	0	1	3	0	1	1	2	2	3	2	3	1	3	2	3	1	3	3	1			TCGA-KC-A7FD-01A-11D-A33T-08	TCGA-KC-A7FD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f255429b-c98f-4c60-ad83-3b67ddb553c5	0958a78b-72c4-4579-8811-b61a2b1178de	g.chr12:53927005G>C	ENST00000548446.2	-	7	744	c.632C>G	c.(631-633)gCt>gGt	p.A211G	ATF7_ENST00000415113.1_Missense_Mutation_p.A179G|ATF7_ENST00000456903.4_Missense_Mutation_p.A200G|ATF7_ENST00000328463.7_Missense_Mutation_p.A211G|RP11-793H13.10_ENST00000591834.1_Missense_Mutation_p.A200G|ATF7_ENST00000420353.2_Missense_Mutation_p.A200G			P17544	ATF7_HUMAN	activating transcription factor 7	211	Transactivation domain.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nuclear periphery (GO:0034399)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|metal ion binding (GO:0046872)|mitogen-activated protein kinase binding (GO:0051019)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|skin(1)|urinary_tract(1)	9					Pseudoephedrine(DB00852)	CTGTCCATTAGCAAGATGCAT	0.512																																						ENST00000420353.2																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|skin(1)|urinary_tract(1)	9						c.(598-600)gCt>gGt		activating transcription factor 7							73	73	73					12																	53927005		1987	4159	6146	SO:0001583	missense	11016				interspecies interaction between organisms	cytoplasm|nuclear periphery|nucleoplasm	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr12:53927005G>C	X52943	CCDS44906.1, CCDS58238.1	12q13	2013-01-10				ENSG00000170653		"basic leucine zipper proteins"	792	protein-coding gene	gene with protein product		606371				1694576, 11278933	Standard	NM_006856		Approved	ATFA	uc001sdz.3	P17544	OTTHUMG00000169776	ENST00000548446.2:c.632C>G	12.37:g.53927005G>C	ENSP00000449938:p.Ala211Gly					ATF7_ENST00000456903.4_Missense_Mutation_p.A200G|ATF7_ENST00000328463.7_Missense_Mutation_p.A211G|ATF7_ENST00000415113.1_Missense_Mutation_p.A179G|ATF7_ENST00000548446.2_Missense_Mutation_p.A211G|RP11-793H13.10_ENST00000591834.1_Missense_Mutation_p.A200G	p.A200G	NM_006856.2	NP_006847.1	P17544	ATF7_HUMAN			7	748	-			211			Transactivation domain.		A5D6Y4|B2RMP1|B4DQL4|Q13814|Q8IVR8|Q9UD83	Missense_Mutation	SNP	ENST00000548446.2	37	c.599C>G		.	.	.	.	.	.	.	.	.	.	G	11.42	1.632451	0.29068	.	.	ENSG00000170653	ENST00000548446;ENST00000328463;ENST00000415113;ENST00000420353;ENST00000456903	T;T;T;T;T	0.45276	0.91;0.91;0.9;0.91;0.91	4.87	4.87	0.63330	.	0.162448	0.56097	D	0.000035	T	0.19765	0.0475	N	0.08118	0	0.32385	N	0.554004	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.08055	0.002;0.0;0.003	T	0.15407	-1.0438	10	0.21014	T	0.42	-18.2065	7.1224	0.25453	0.0904:0.1752:0.7344:0.0	.	179;200;211	P17544-2;B2RMP1;P17544	.;.;ATF7_HUMAN	G	211;211;179;200;200	ENSP00000449938:A211G;ENSP00000329212:A211G;ENSP00000404880:A179G;ENSP00000399465:A200G;ENSP00000387406:A200G	ENSP00000329212:A211G	A	-	2	0	ATF7	52213272	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.510000	0.67018	2.698000	0.92095	0.561000	0.74099	GCT		0.512	ATF7-007	KNOWN	NMD_exception|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000406302.2	NM_001130059		20	31	0	0	0	1	0	20	31					C	53927005	G	C	53927005	3	2	303	1	0	0	0	0	1	0	0	0	1086	971	34	5	876	5	ATF7	12	53927005	Missense_Mutation	SNP	G	TCGA-KC-A7FD-01A-11D-A33T-08		53927005	79924890	42	14487											
BTG1	694	broad.mit.edu	37	chr12	92537884	92537884	+	Frame_Shift_Del	DEL	T	T	-																															atacagtcatcatattgtagTttttggaagggctcgttctg																										TCGA-KC-A7FD-01A-11D-A33T-08	TCGA-KC-A7FD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f255429b-c98f-4c60-ad83-3b67ddb553c5	0958a78b-72c4-4579-8811-b61a2b1178de	g.chr12:92537884delT	ENST00000256015.3	-	2	849	c.488delA	c.(487-489)aacfs	p.N163fs	C12orf79_ENST00000549802.1_5'Flank|C12orf79_ENST00000551563.2_5'Flank|RP11-796E2.4_ENST00000501008.2_RNA|RP11-796E2.4_ENST00000499685.2_RNA|C12orf79_ENST00000546975.1_5'Flank|C12orf79_ENST00000551843.1_5'Flank	NM_001731.2	NP_001722.1	P62324	BTG1_HUMAN	B-cell translocation gene 1, anti-proliferative	163					cell migration (GO:0016477)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of fibroblast apoptotic process (GO:2000271)|positive regulation of myoblast differentiation (GO:0045663)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|kinase binding (GO:0019900)|transcription cofactor activity (GO:0003712)			haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(1)|lung(2)	16		Acute lymphoblastic leukemia(6;3.02e-13)|all_hematologic(6;4.32e-09)				CATATTGTAGTTTTTGGAAGG	0.443			T	MYC	BCLL						OREG0022024	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000256015.3				Dom	yes		12	12q22	694	T	"B-cell translocation gene 1, anti-proliferative"			L	MYC		BCLL		0				haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(1)|lung(2)	16						c.(487-489)acfs		B-cell translocation gene 1, anti-proliferative							79	72	74					12																	92537884		2203	4295	6498	SO:0001589	frameshift_variant	694				cell migration|negative regulation of cell growth|negative regulation of cell proliferation|positive regulation of angiogenesis|positive regulation of endothelial cell differentiation|positive regulation of myoblast differentiation|regulation of apoptosis|regulation of transcription, DNA-dependent	cytoplasm|nucleus	kinase binding|transcription cofactor activity	g.chr12:92537884delT		CCDS9043.1	12q21.33	2012-10-02			ENSG00000133639	ENSG00000133639			1130	protein-coding gene	gene with protein product		109580				15033446	Standard	NM_001731		Approved		uc001tby.3	P62324	OTTHUMG00000170092	ENST00000256015.3:c.488delA	12.37:g.92537884delT	ENSP00000256015:p.Asn163fs		OREG0022024	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1291		p.N163fs	NM_001731.2	NP_001722.1	P62324	BTG1_HUMAN			2	849	-		Acute lymphoblastic leukemia(6;3.02e-13)|all_hematologic(6;4.32e-09)	163					P31607	Frame_Shift_Del	DEL	ENST00000256015.3	37	c.488delA	CCDS9043.1																																																																																				0.443	BTG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407227.1			33	69						33	69	---	---	---	---	-	92537884	T	-	92537884	7	5	303	1	0	1	0	1	0	0	0	0	1553	1725	60	0	31	0	BTG1	12	92537884	Frame_Shift_Del	DEL	T	TCGA-KC-A7FD-01A-11D-A33T-08	38610879	92537884	41314011	43	14488											
PCDH17	27253	broad.mit.edu	37	chr13	58299039	58299039	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccctgagccctctcctccaaGaggtcccctcagcatcaagc	8	7	7	19	0	3	2	2	1	1	1	6	2	5	2	6	1	3	1	6	1	2	0			TCGA-KC-A7FD-01A-11D-A33T-08	TCGA-KC-A7FD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f255429b-c98f-4c60-ad83-3b67ddb553c5	0958a78b-72c4-4579-8811-b61a2b1178de	g.chr13:58299039G>A	ENST00000377918.3	+	4	3117	c.3091G>A	c.(3091-3093)Gag>Aag	p.E1031K		NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN	protocadherin 17	1031					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		TCTCCTCCAAGAGGTCCCCTC	0.502																																					Melanoma(72;952 1291 1619 12849 33676)	ENST00000377918.3																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120						c.(3091-3093)Gag>Aag		protocadherin 17							88	89	89					13																	58299039		2203	4300	6503	SO:0001583	missense	27253				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding	g.chr13:58299039G>A	AF029343	CCDS31986.1	13q21.1	2010-01-26			ENSG00000118946	ENSG00000118946		"Cadherins / Protocadherins : Non-clustered"	14267	protein-coding gene	gene with protein product		611760				10835267	Standard	NM_001040429		Approved	PCDH68, PCH68	uc001vhq.1	O14917	OTTHUMG00000016992	ENST00000377918.3:c.3091G>A	13.37:g.58299039G>A	ENSP00000367151:p.Glu1031Lys						p.E1031K	NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN		GBM - Glioblastoma multiforme(99;1.06e-05)	4	3117	+		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)	1031					A8K1R5|Q5VVW9|Q5VVX0	Missense_Mutation	SNP	ENST00000377918.3	37	c.3091G>A	CCDS31986.1	.	.	.	.	.	.	.	.	.	.	G	19.22	3.786408	0.70337	.	.	ENSG00000118946	ENST00000377918	T	0.51574	0.7	6.07	6.07	0.98685	.	0.051269	0.85682	D	0.000000	T	0.43809	0.1264	L	0.43152	1.355	0.58432	D	0.999999	B	0.31459	0.324	B	0.28784	0.094	T	0.17715	-1.0360	9	.	.	.	.	20.6593	0.99626	0.0:0.0:1.0:0.0	.	1031	O14917	PCD17_HUMAN	K	1031	ENSP00000367151:E1031K	.	E	+	1	0	PCDH17	57197040	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.476000	0.97823	2.885000	0.99019	0.655000	0.94253	GAG		0.502	PCDH17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045139.1	NM_001040429		4	87	0	0	0	1	0	4	87					A	58299039	G	A	58299039	3	1	303	1	0	0	0	0	1	0	0	0	11512	943	33	3	3105	3	PCDH17	13	58299039	Missense_Mutation	SNP	G	TCGA-KC-A7FD-01A-11D-A33T-08		58299039	56870839	44	14489											
ACTN1	87	broad.mit.edu	37	chr14	69341705	69341705	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctggtcgggtggcagctcGcggcgcagctcgtccatggt	3	8	17	13	5	0	0	0	0	0	0	4	0	1	0	2	5	2	4	2	5	0	0			TCGA-KC-A7FD-01A-11D-A33T-08	TCGA-KC-A7FD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f255429b-c98f-4c60-ad83-3b67ddb553c5	0958a78b-72c4-4579-8811-b61a2b1178de	g.chr14:69341705G>A	ENST00000193403.6	-	21	2933	c.2550C>T	c.(2548-2550)cgC>cgT	p.R850R	ACTN1_ENST00000376839.3_Silent_p.R780R|ACTN1_ENST00000538545.2_Silent_p.R888R|ACTN1_ENST00000438964.2_Silent_p.R845R|ACTN1_ENST00000394419.4_Silent_p.R872R	NM_001102.3	NP_001093.1	P12814	ACTN1_HUMAN	actinin, alpha 1	850					actin crosslink formation (GO:0051764)|actin filament bundle assembly (GO:0051017)|blood coagulation (GO:0007596)|cell junction assembly (GO:0034329)|extracellular matrix organization (GO:0030198)|focal adhesion assembly (GO:0048041)|negative regulation of cellular component movement (GO:0051271)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of apoptotic process (GO:0042981)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)|pseudopodium (GO:0031143)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|double-stranded RNA binding (GO:0003725)|integrin binding (GO:0005178)|ion channel binding (GO:0044325)|vinculin binding (GO:0017166)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(9)|prostate(2)|urinary_tract(1)	27				BRCA - Breast invasive adenocarcinoma(234;0.00605)|all cancers(60;0.00846)|OV - Ovarian serous cystadenocarcinoma(108;0.0654)		GTGGCAGCTCGCGGCGCAGCT	0.652																																						ENST00000193403.6																			0				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(9)|prostate(2)|urinary_tract(1)	27						c.(2548-2550)cgC>cgT		actinin, alpha 1							35	35	35					14																	69341705		2203	4299	6502	SO:0001819	synonymous_variant	87				focal adhesion assembly|negative regulation of cellular component movement|platelet activation|platelet degranulation|regulation of apoptosis	actin cytoskeleton|cytosol|extracellular region|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|sarcomere	actin binding|calcium ion binding|integrin binding|vinculin binding	g.chr14:69341705G>A	M95178	CCDS9792.1, CCDS45129.1, CCDS45130.1	14q24.1	2014-08-08			ENSG00000072110	ENSG00000072110		"EF-hand domain containing"	163	protein-coding gene	gene with protein product		102575				2349951	Standard	NM_001102		Approved		uc001xkm.3	P12814	OTTHUMG00000171386	ENST00000193403.6:c.2550C>T	14.37:g.69341705G>A						ACTN1_ENST00000538545.2_Silent_p.R888R|ACTN1_ENST00000438964.2_Silent_p.R845R|ACTN1_ENST00000394419.4_Silent_p.R872R|ACTN1_ENST00000376839.3_Silent_p.R780R	p.R850R	NM_001102.3	NP_001093.1	P12814	ACTN1_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00605)|all cancers(60;0.00846)|OV - Ovarian serous cystadenocarcinoma(108;0.0654)	21	2933	-			850					B3V8S3|B4DHH3|B7TY16|Q1HE25|Q9BTN1	Silent	SNP	ENST00000193403.6	37	c.2550C>T	CCDS9792.1	.	.	.	.	.	.	.	.	.	.	G	0.036	-1.305257	0.01353	.	.	ENSG00000072110	ENST00000555075	.	.	.	4.68	-9.36	0.00629	.	.	.	.	.	T	0.40322	0.1112	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.63998	-0.6510	4	.	.	.	.	2.8525	0.05562	0.3578:0.137:0.3496:0.1556	.	.	.	.	V	209	.	.	A	-	2	0	ACTN1	68411458	0.000000	0.05858	0.005000	0.12908	0.059000	0.15707	-2.293000	0.01145	-6.038000	0.00007	-2.322000	0.00252	GCG		0.652	ACTN1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000413233.3	NM_001102		3	39	0	0	0	1	0	3	39					A	69341705	G	A	69341705	2	1	303	1	0	0	0	0	0	0	0	1	204	1074	38	1		1	ACTN1	14	69341705	Silent	SNP	G	TCGA-KC-A7FD-01A-11D-A33T-08		69341705	38007835	45	14490											
KIAA1409	57578	broad.mit.edu	37	chr14	94097201	94097201	+	Frame_Shift_Del	DEL	C	C	-																															gccacgagaatcttcatctgCccctacgttagatgcaggtg																								rs139149620	byFrequency	TCGA-KC-A7FD-01A-11D-A33T-08	TCGA-KC-A7FD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f255429b-c98f-4c60-ad83-3b67ddb553c5	0958a78b-72c4-4579-8811-b61a2b1178de	g.chr14:94097201delC	ENST00000393151.2	+	31	5663	c.5663delC	c.(5662-5664)gccfs	p.A1888fs	UNC79_ENST00000553484.1_Frame_Shift_Del_p.A1910fs|UNC79_ENST00000555664.1_Frame_Shift_Del_p.A1888fs|UNC79_ENST00000256339.4_Frame_Shift_Del_p.A1711fs			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	1888					behavioral response to ethanol (GO:0048149)|ion transmembrane transport (GO:0034220)|multicellular organism growth (GO:0035264)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						TCTTCATCTGCCCCTACGTTA	0.368																																						ENST00000553484.1																			0				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						c.(5728-5730)gcfs		unc-79 homolog (C. elegans)							112	99	103					14																	94097201		2203	4300	6503	SO:0001589	frameshift_variant	57578					integral to membrane		g.chr14:94097201delC	AB037830	CCDS9911.2	14q32.13	2011-08-18	2011-08-18	2011-08-18	ENSG00000133958	ENSG00000133958			19966	protein-coding gene	gene with protein product			"KIAA1409"	KIAA1409		20714347, 21040849	Standard	NM_020818		Approved		uc001ybs.1	Q9P2D8	OTTHUMG00000029783	ENST00000393151.2:c.5663delC	14.37:g.94097201delC	ENSP00000376858:p.Ala1888fs					UNC79_ENST00000256339.4_Frame_Shift_Del_p.A1711fs|UNC79_ENST00000393151.2_Frame_Shift_Del_p.A1888fs|UNC79_ENST00000555664.1_Frame_Shift_Del_p.A1888fs	p.A1910fs			Q9P2D8	UNC79_HUMAN			32	5883	+			1888					B5MDL6|Q6ZUT7	Frame_Shift_Del	DEL	ENST00000393151.2	37	c.5729delC																																																																																					0.368	UNC79-006	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000412766.1	XM_028395		24	64						24	64	---	---	---	---	-	94097201	C	-	94097201	7	5	303	1	0	1	0	1	0	0	0	0	8230	739	26	0	5242	0	KIAA1409	14	94097201	Frame_Shift_Del	DEL	C	TCGA-KC-A7FD-01A-11D-A33T-08	24755496	94097201	13252339	46	14491											
MEX3B	84206	broad.mit.edu	37	chr15	82336870	82336870	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccacatcctccttcctgcccGtcacaacaaagacaggctcc	10	7	5	19	1	1	1	1	0	0	1	5	1	5	1	6	1	2	1	6	1	2	1			TCGA-KC-A7FD-01A-11D-A33T-08	TCGA-KC-A7FD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f255429b-c98f-4c60-ad83-3b67ddb553c5	0958a78b-72c4-4579-8811-b61a2b1178de	g.chr15:82336870G>A	ENST00000329713.4	-	2	776	c.341C>T	c.(340-342)aCg>aTg	p.T114M	MEX3B_ENST00000558133.1_3'UTR|AC026956.1_ENST00000410589.1_RNA	NM_032246.4	NP_115622.2	Q6ZN04	MEX3B_HUMAN	mex-3 RNA binding family member B	114	KH 1. {ECO:0000255|PROSITE- ProRule:PRU00117}.				protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|upper_aerodigestive_tract(1)	19						CTTCCTGCCCGTCACAACAAA	0.572																																						ENST00000329713.4																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|upper_aerodigestive_tract(1)	19						c.(340-342)aCg>aTg		mex-3 RNA binding family member B							53	55	54					15																	82336870		2203	4300	6503	SO:0001583	missense	84206				protein autophosphorylation	cytoplasmic mRNA processing body|nucleus	calcium ion binding|RNA binding|zinc ion binding	g.chr15:82336870G>A	AK131424	CCDS10319.1	15q25.1	2013-08-21	2013-08-21	2007-07-18	ENSG00000183496	ENSG00000183496		"RING-type (C3HC4) zinc fingers", "Mex-3 homologs"	25297	protein-coding gene	gene with protein product		611008	"ring finger and KH domain containing 3", "mex-3 homolog B (C. elegans)"	RKHD3		11230166, 17267406	Standard	NM_032246		Approved	DKFZp434J0617, RNF195	uc002bgq.2	Q6ZN04	OTTHUMG00000147356	ENST00000329713.4:c.341C>T	15.37:g.82336870G>A	ENSP00000329918:p.Thr114Met					MEX3B_ENST00000558133.1_3'UTR	p.T114M	NM_032246.3	NP_115622.2	Q6ZN04	MEX3B_HUMAN			2	776	-			114			KH 1.		Q4G0W1|Q8IVG2|Q9H0J0	Missense_Mutation	SNP	ENST00000329713.4	37	c.341C>T	CCDS10319.1	.	.	.	.	.	.	.	.	.	.	G	23.9	4.467051	0.84533	.	.	ENSG00000183496	ENST00000329713	T	0.33438	1.41	4.41	4.41	0.53225	K Homology (1);K Homology, type 1, subgroup (1);K Homology, type 1 (1);	0.127383	0.52532	D	0.000074	T	0.56156	0.1966	M	0.75615	2.305	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.62455	-0.6851	10	0.87932	D	0	-19.9807	15.9129	0.79485	0.0:0.0:1.0:0.0	.	114	Q6ZN04	MEX3B_HUMAN	M	114	ENSP00000329918:T114M	ENSP00000329918:T114M	T	-	2	0	MEX3B	80123925	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.872000	0.92352	2.291000	0.77112	0.491000	0.48974	ACG		0.572	MEX3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000304000.1	XM_290645		3	43	0	0	0	1	0	3	43					A	82336870	G	A	82336870	3	1	303	1	0	0	0	0	1	0	0	0	9510	1145	40	1	1372	1	MEX3B	15	82336870	Missense_Mutation	SNP	G	TCGA-KC-A7FD-01A-11D-A33T-08		82336870	20194522	47	14492											
ZFHX3	463	broad.mit.edu	37	chr16	72845538	72845538	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaggtgggtgaggtgcagctGgaggtggatcttgttgttga	6	12	20	3	0	1	2	0	2	1	0	1	5	1	4	0	6	2	4	0	6	0	3			TCGA-KC-A7FD-01A-11D-A33T-08	TCGA-KC-A7FD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f255429b-c98f-4c60-ad83-3b67ddb553c5	0958a78b-72c4-4579-8811-b61a2b1178de	g.chr16:72845538G>A	ENST00000268489.5	-	7	4474	c.3802C>T	c.(3802-3804)Cag>Tag	p.Q1268*	RP5-991G20.2_ENST00000558618.1_RNA|ZFHX3_ENST00000397992.5_Nonsense_Mutation_p.Q354*	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	1268					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|muscle organ development (GO:0007517)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of myoblast differentiation (GO:0045663)|regulation of neuron differentiation (GO:0045664)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	enzyme binding (GO:0019899)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				AGGTGCAGCTGGAGGTGGATC	0.607																																						ENST00000268489.5																			0				NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153						c.(3802-3804)Cag>Tag		zinc finger homeobox 3							85	74	78					16																	72845538		2198	4300	6498	SO:0001587	stop_gained	463				muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr16:72845538G>A	D10250	CCDS10908.1, CCDS54035.1	16q22.3	2012-03-09	2007-08-09	2007-08-09	ENSG00000140836	ENSG00000140836		"Zinc fingers, C2H2-type", "Homeoboxes / ZF class"	777	protein-coding gene	gene with protein product		104155	"AT-binding transcription factor 1"	ATBF1		1719379, 7592926	Standard	NM_006885		Approved	ZNF927	uc002fck.3	Q15911	OTTHUMG00000137599	ENST00000268489.5:c.3802C>T	16.37:g.72845538G>A	ENSP00000268489:p.Gln1268*					ZFHX3_ENST00000397992.5_Nonsense_Mutation_p.Q354*	p.Q1268*	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN			7	4474	-		Ovarian(137;0.13)	1268					D3DWS8|O15101|Q13719	Nonsense_Mutation	SNP	ENST00000268489.5	37	c.3802C>T	CCDS10908.1	.	.	.	.	.	.	.	.	.	.	G	48	14.483053	0.99797	.	.	ENSG00000140836	ENST00000268489;ENST00000397992	.	.	.	5.67	5.67	0.87782	.	0.000000	0.47852	D	0.000219	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	.	19.7222	0.96147	0.0:0.0:1.0:0.0	.	.	.	.	X	1268;354	.	ENSP00000268489:Q1268X	Q	-	1	0	ZFHX3	71403039	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.813000	0.99286	2.828000	0.97474	0.655000	0.94253	CAG		0.607	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269008.1	NM_006885		12	19	0	0	0	1	0	12	19					A	72845538	G	A	72845538	4	1	303	1	0	0	0	0	0	1	0	0	17631	1357	47	3	7325	3	ZFHX3	16	72845538	Nonsense_Mutation	SNP	G	TCGA-KC-A7FD-01A-11D-A33T-08		72845538	17509215	48	14493											
GEMIN4	50628	broad.mit.edu	37	chr17	649822	649822	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cctggcagggagaggtctgcGtaacattccaggatcaggtg	9	8	15	9	1	2	1	1	0	1	1	3	3	3	2	2	5	2	2	2	5	1	2			TCGA-KC-A7FD-01A-11D-A33T-08	TCGA-KC-A7FD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f255429b-c98f-4c60-ad83-3b67ddb553c5	0958a78b-72c4-4579-8811-b61a2b1178de	g.chr17:649822G>A	ENST00000319004.5	-	2	1579	c.1461C>T	c.(1459-1461)taC>taT	p.Y487Y	GEMIN4_ENST00000576778.1_Silent_p.Y476Y	NM_015721.2	NP_056536.2	P57678	GEMI4_HUMAN	gem (nuclear organelle) associated protein 4	487					gene expression (GO:0010467)|ncRNA metabolic process (GO:0034660)|RNA metabolic process (GO:0016070)|rRNA processing (GO:0006364)|spliceosomal snRNP assembly (GO:0000387)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|small nuclear ribonucleoprotein complex (GO:0030532)|SMN complex (GO:0032797)|SMN-Sm protein complex (GO:0034719)				breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(4)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	22		Myeloproliferative disorder(207;0.204)		UCEC - Uterine corpus endometrioid carcinoma (25;0.022)		AGAGGTCTGCGTAACATTCCA	0.537																																						ENST00000576778.1																			0				breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(4)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	22						c.(1426-1428)taC>taT		gem (nuclear organelle) associated protein 4							33	35	35					17																	649822		1960	4153	6113	SO:0001819	synonymous_variant	50628				rRNA processing|spliceosomal snRNP assembly	Cajal body|cytosol|nucleolus|small nuclear ribonucleoprotein complex|spliceosomal complex	protein binding	g.chr17:649822G>A	AF177341	CCDS45559.1	17p13.3	2008-07-18				ENSG00000179409			15717	protein-coding gene	gene with protein product	"HCC-associated protein 1", "component of gems 4"	606969				10725331	Standard	NM_015721		Approved	HHRF-1, DKFZP434B131, p97, DKFZP434D174, HC56, HCAP1	uc002frs.1	P57678		ENST00000319004.5:c.1461C>T	17.37:g.649822G>A						GEMIN4_ENST00000319004.5_Silent_p.Y487Y	p.Y476Y			P57678	GEMI4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.022)	1	2769	-		Myeloproliferative disorder(207;0.204)	487					Q9NZS7|Q9UG32|Q9Y4Q2	Silent	SNP	ENST00000319004.5	37	c.1428C>T	CCDS45559.1																																																																																				0.537	GEMIN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437181.1	NM_015721		14	28	0	0	0	1	0	14	28					A	649822	G	A	649822	2	1	303	1	0	0	0	0	0	0	0	1	6330	1140	40	1		1	GEMIN4	17	649822	Silent	SNP	G	TCGA-KC-A7FD-01A-11D-A33T-08		649822	80545388	49	14494											
MYH2	4620	broad.mit.edu	37	chr17	10435046	10435046	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctctgacttggcaagttcGtctttaattttctgaaattc	8	17	7	9	1	3	2	0	2	3	0	5	2	3	2	1	1	0	2	1	1	3	7	rs142129307	byFrequency	TCGA-KC-A7FD-01A-11D-A33T-08	TCGA-KC-A7FD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f255429b-c98f-4c60-ad83-3b67ddb553c5	0958a78b-72c4-4579-8811-b61a2b1178de	g.chr17:10435046G>A	ENST00000245503.5	-	22	2985	c.2601C>T	c.(2599-2601)gaC>gaT	p.D867D	RP11-799N11.1_ENST00000399342.2_RNA|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|MYH2_ENST00000397183.2_Silent_p.D867D|MYH2_ENST00000532183.2_Intron	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	867					Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|plasma membrane repair (GO:0001778)|response to activity (GO:0014823)	A band (GO:0031672)|actomyosin contractile ring (GO:0005826)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|protein complex (GO:0043234)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)	p.D867D(1)		NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						TGGCAAGTTCGTCTTTAATTT	0.428													g|||	2	0.000399361	0	0	5008	,	,		22173	0.002		0	False		,,,				2504	0					ENST00000245503.5																			1	Substitution - coding silent(1)	p.D867D(1)	ovary(1)	NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						c.(2599-2601)gaC>gaT		myosin, heavy chain 2, skeletal muscle, adult		G	,	1,4405	2.1+/-5.4	0,1,2202	133	130	131		2601,2601	-9.4	0	17	dbSNP_134	131	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	MYH2	NM_001100112.1,NM_017534.5	,	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	,	867/1942,867/1942	10435046	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	4620				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr17:10435046G>A		CCDS11156.1	17p13.1	2014-02-04	2006-09-29		ENSG00000125414	ENSG00000125414		"Myosins / Myosin superfamily : Class II"	7572	protein-coding gene	gene with protein product		160740	"myosin, heavy polypeptide 2, skeletal muscle, adult", "inclusion body myopathy 3, autosomal dominant"	IBM3		7545970, 11889243	Standard	NM_001100112		Approved	MYH2A, MYHSA2, MyHC-IIa, MYHas8, MyHC-2A	uc010coi.3	Q9UKX2	OTTHUMG00000130363	ENST00000245503.5:c.2601C>T	17.37:g.10435046G>A						MYH2_ENST00000532183.1_Intron|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|MYH2_ENST00000397183.2_Silent_p.D867D	p.D867D	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN			22	2985	-			867					A0AVL4|Q14322|Q16229|Q567P6|Q86T56	Silent	SNP	ENST00000245503.5	37	c.2601C>T	CCDS11156.1																																																																																				0.428	MYH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252726.3	NM_017534		47	76	0	0	0	1	0	47	76					A	10435046	G	A	10435046	2	1	303	1	0	0	0	0	0	0	0	1	10035	1136	40	1		1	MYH2	17	10435046	Silent	SNP	G	TCGA-KC-A7FD-01A-11D-A33T-08	9785224	10435046	70760164	50	14495											
RGS9	8787	broad.mit.edu	37	chr17	63204085	63204085	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctccgatctataaggacatgCtggccaaagctattgaacct	12	10	8	11	1	1	1	0	1	1	0	2	3	2	2	3	2	3	2	3	2	5	4			TCGA-KC-A7FD-01A-11D-A33T-08	TCGA-KC-A7FD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f255429b-c98f-4c60-ad83-3b67ddb553c5	0958a78b-72c4-4579-8811-b61a2b1178de	g.chr17:63204085C>T	ENST00000262406.9	+	16	1316	c.1249C>T	c.(1249-1251)Ctg>Ttg	p.L417L	RGS9_ENST00000449996.3_Silent_p.L414L|RGS9_ENST00000443584.3_Silent_p.L414L	NM_003835.3	NP_003826.2	O75916	RGS9_HUMAN	regulator of G-protein signaling 9	417				L -> Q (in Ref. 7; AAC25430). {ECO:0000305}.	dopamine receptor signaling pathway (GO:0007212)|intracellular signal transduction (GO:0035556)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|response to estrogen (GO:0043627)|rhodopsin mediated signaling pathway (GO:0016056)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|heterotrimeric G-protein complex (GO:0005834)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|signal transducer activity (GO:0004871)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(8)|liver(2)|lung(12)|ovary(2)|prostate(3)|skin(3)	41						TAAGGACATGCTGGCCAAAGC	0.403																																						ENST00000449996.3																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(8)|liver(2)|lung(12)|ovary(2)|prostate(3)|skin(3)	41						c.(1240-1242)Ctg>Ttg		regulator of G-protein signaling 9							107	94	98					17																	63204085		1859	4091	5950	SO:0001819	synonymous_variant	8787				intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway|visual perception	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|signal transducer activity	g.chr17:63204085C>T	AF071476	CCDS42373.1, CCDS45764.1	17q24	2008-07-18	2007-08-14			ENSG00000108370		"Regulators of G-protein signaling"	10004	protein-coding gene	gene with protein product	"regulator of G protein signalling 9", "regulator of G protein signalling 9L", "regulator of G-protein signaling 9L"	604067	"regulator of G-protein signalling 9"			9765512	Standard	NM_003835		Approved	PERRS, RGS9L, MGC26458, MGC111763	uc002jfe.3	O75916		ENST00000262406.9:c.1249C>T	17.37:g.63204085C>T						RGS9_ENST00000262406.9_Silent_p.L417L|RGS9_ENST00000443584.3_Silent_p.L414L	p.L414L	NM_001081955.2	NP_001075424.1	O75916	RGS9_HUMAN			16	1312	+			417					A8K3C0|O75573|Q696R2|Q8TD64|Q8TD65|Q9HC32|Q9HC33	Silent	SNP	ENST00000262406.9	37	c.1240C>T	CCDS42373.1																																																																																				0.403	RGS9-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000445885.1	NM_003835		3	52	0	0	0	1	0	3	52					T	63204085	C	T	63204085	2	4	303	1	0	0	0	0	0	0	0	1	13313	796	28	3		3	RGS9	17	63204085	Silent	SNP	C	TCGA-KC-A7FD-01A-11D-A33T-08	52769039	63204085	17991125	51	14496											
ZNF317	57693	broad.mit.edu	37	chr19	9270907	9270907	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggcaagaggccctatcacCgccgcgactatggggtagcg	8	6	14	13	4	1	1	1	0	0	1	1	2	1	1	3	4	1	2	3	4	4	3			TCGA-KC-A7FD-01A-11D-A33T-08	TCGA-KC-A7FD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f255429b-c98f-4c60-ad83-3b67ddb553c5	0958a78b-72c4-4579-8811-b61a2b1178de	g.chr19:9270907C>T	ENST00000247956.6	+	7	891	c.586C>T	c.(586-588)Cgc>Tgc	p.R196C	ZNF317_ENST00000360385.3_Missense_Mutation_p.R164C	NM_020933.4	NP_065984.3	Q96PQ6	ZN317_HUMAN	zinc finger protein 317	196					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3)	27						GCCCTATCACCGCCGCGACTA	0.537																																						ENST00000247956.6																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3)	27						c.(586-588)Cgc>Tgc		zinc finger protein 317							71	56	61					19																	9270907		2203	4300	6503	SO:0001583	missense	57693				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:9270907C>T	AF275255	CCDS12210.1, CCDS54213.1	19p13	2013-01-08				ENSG00000130803		"Zinc fingers, C2H2-type", "-"	13507	protein-coding gene	gene with protein product		613864				10997877, 11688974	Standard	NM_020933		Approved		uc002mku.3	Q96PQ6		ENST00000247956.6:c.586C>T	19.37:g.9270907C>T	ENSP00000247956:p.Arg196Cys					ZNF317_ENST00000360385.3_Missense_Mutation_p.R164C	p.R196C	NM_020933.4	NP_065984.3	Q96PQ6	ZN317_HUMAN			7	891	+			196					Q6DCA9|Q96PM0|Q96PM1|Q96PT2|Q9HCI4	Missense_Mutation	SNP	ENST00000247956.6	37	c.586C>T	CCDS12210.1	.	.	.	.	.	.	.	.	.	.	C	8.286	0.816611	0.16607	.	.	ENSG00000130803	ENST00000247956;ENST00000360385	T;T	0.04083	3.71;3.71	3.34	2.3	0.28687	.	0.347798	0.21283	N	0.077105	T	0.00845	0.0028	N	0.00112	-2.095	0.39073	D	0.960761	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.39860	-0.9593	10	0.02654	T	1	-16.5548	5.6319	0.17516	0.0:0.7497:0.0:0.2503	.	164;196	Q96PQ6-2;Q96PQ6	.;ZN317_HUMAN	C	196;164	ENSP00000247956:R196C;ENSP00000353554:R164C	ENSP00000247956:R196C	R	+	1	0	ZNF317	9131907	0.249000	0.23941	0.052000	0.19188	0.930000	0.56654	1.360000	0.34125	0.977000	0.38444	0.591000	0.81541	CGC		0.537	ZNF317-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000448995.1	NM_020933		9	13	0	0	0	1	0	9	13					T	9270907	C	T	9270907	3	4	303	1	0	0	0	0	1	0	0	0	17832	652	23	2	608	2	ZNF317	19	9270907	Missense_Mutation	SNP	C	TCGA-KC-A7FD-01A-11D-A33T-08		9270907	49858076	52	14497											
NWD1	284434	broad.mit.edu	37	chr19	16860227	16860227	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaccccaagaacaagactcaCgcctgctacctgaaggagct	14	5	8	14	1	1	3	1	1	0	2	1	4	1	4	4	1	5	2	4	1	6	1			TCGA-KC-A7FD-01A-11D-A33T-08	TCGA-KC-A7FD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f255429b-c98f-4c60-ad83-3b67ddb553c5	0958a78b-72c4-4579-8811-b61a2b1178de	g.chr19:16860227C>T	ENST00000552788.1	+	4	774	c.774C>T	c.(772-774)caC>caT	p.H258H	NWD1_ENST00000523826.1_Silent_p.H52H|NWD1_ENST00000524140.2_Silent_p.H258H|NWD1_ENST00000339803.6_Silent_p.H123H|NWD1_ENST00000379808.3_Silent_p.H258H|NWD1_ENST00000549814.1_Silent_p.H258H			Q149M9	NWD1_HUMAN	NACHT and WD repeat domain containing 1	258							ATP binding (GO:0005524)			NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						ACAAGACTCACGCCTGCTACC	0.607																																						ENST00000524140.2																			0				NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						c.(772-774)caC>caT		NACHT and WD repeat domain containing 1							50	47	48					19																	16860227		2203	4300	6503	SO:0001819	synonymous_variant	284434						ATP binding	g.chr19:16860227C>T	BX648940	CCDS32945.1, CCDS32945.2	19p13.11	2013-01-09				ENSG00000188039		"WD repeat domain containing"	27619	protein-coding gene	gene with protein product							Standard	NM_001007525		Approved		uc002neu.4	Q149M9		ENST00000552788.1:c.774C>T	19.37:g.16860227C>T						NWD1_ENST00000523826.1_Silent_p.H52H|NWD1_ENST00000552788.1_Silent_p.H258H|NWD1_ENST00000549814.1_Silent_p.H258H|NWD1_ENST00000339803.6_Silent_p.H123H|NWD1_ENST00000379808.3_Silent_p.H258H	p.H258H	NM_001007525.3	NP_001007526.3	Q149M9	NWD1_HUMAN			6	1192	+			258					C9J021|Q68CT3	Silent	SNP	ENST00000552788.1	37	c.774C>T																																																																																					0.607	NWD1-005	NOVEL	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000403569.1	NM_001007525		6	34	0	0	0	1	0	6	34					T	16860227	C	T	16860227	2	4	303	1	0	0	0	0	0	0	0	1	10781	535	19	1		1	NWD1	19	16860227	Silent	SNP	C	TCGA-KC-A7FD-01A-11D-A33T-08	7589320	16860227	42268756	53	14498											
ZNF208	7757	broad.mit.edu	37	chr19	22156491	22156491	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acatttgtagggtgtctctcCagtgtgaattttcttatgtt	7	19	9	6	0	2	1	0	1	2	0	4	1	3	1	1	1	0	2	1	1	3	6			TCGA-KC-A7FD-01A-11D-A33T-08	TCGA-KC-A7FD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f255429b-c98f-4c60-ad83-3b67ddb553c5	0958a78b-72c4-4579-8811-b61a2b1178de	g.chr19:22156491C>A	ENST00000397126.4	-	4	1493	c.1345G>T	c.(1345-1347)Gga>Tga	p.G449*	ZNF208_ENST00000599916.1_Intron|ZNF208_ENST00000601773.1_Intron	NM_007153.3	NP_009084.2	O43345	ZN208_HUMAN	zinc finger protein 208	449					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				GGTGTCTCTCCAGTGTGAATT	0.383																																						ENST00000397126.4																			0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113						c.(1345-1347)Gga>Tga		zinc finger protein 208							82	89	87					19																	22156491		2144	4261	6405	SO:0001587	stop_gained	7757							g.chr19:22156491C>A	BC038199	CCDS54240.1	19p12	2013-01-08				ENSG00000160321		"Zinc fingers, C2H2-type", "-"	12999	protein-coding gene	gene with protein product	"zinc finger protein 95"	603977				9724325	Standard	NM_007153		Approved	PMIDP, ZNF95	uc021urr.1	O43345		ENST00000397126.4:c.1345G>T	19.37:g.22156491C>A	ENSP00000380315:p.Gly449*					ZNF208_ENST00000601773.1_Intron|ZNF208_ENST00000599916.1_Intron	p.G449*	NM_007153.3	NP_009084.2					4	1493	-		all_lung(12;0.0961)|Lung NSC(12;0.103)							Nonsense_Mutation	SNP	ENST00000397126.4	37	c.1345G>T	CCDS54240.1	.	.	.	.	.	.	.	.	.	.	C	20.5	3.999551	0.74818	.	.	ENSG00000160321	ENST00000397126;ENST00000428290	.	.	.	2.83	2.83	0.33086	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.49607	T	0.09	.	6.9568	0.24576	0.0:0.8597:0.0:0.1403	.	.	.	.	X	449	.	ENSP00000380315:G449X	G	-	1	0	ZNF208	21948331	0.049000	0.20398	0.150000	0.22450	0.004000	0.04260	2.229000	0.42990	1.150000	0.42419	0.306000	0.20318	GGA		0.383	ZNF208-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464302.1	NM_007153		6	71	1	0	0.0293803	1	0.0297828	6	71					A	22156491	C	A	22156491	4	1	303	1	0	0	0	0	0	1	0	0	17763	603	21	5	2501	5	ZNF208	19	22156491	Nonsense_Mutation	SNP	C	TCGA-KC-A7FD-01A-11D-A33T-08	5296264	22156491	36972492	54	14499											
NTN5	126147	broad.mit.edu	37	chr19	49173724	49173724	+	Frame_Shift_Del	DEL	G	G	-																															atggtggcggcagtggcagcGggggggccgggcacgggcgg																								rs201586895		TCGA-KC-A7FD-01A-11D-A33T-08	TCGA-KC-A7FD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f255429b-c98f-4c60-ad83-3b67ddb553c5	0958a78b-72c4-4579-8811-b61a2b1178de	g.chr19:49173724delG	ENST00000270235.4	-	2	615	c.520delC	c.(520-522)cgcfs	p.R174fs	SEC1P_ENST00000430145.2_RNA	NM_145807.1	NP_665806.1	Q8WTR8	NET5_HUMAN	netrin 5	174	Laminin EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00460}.					extracellular region (GO:0005576)				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(1)	10						CAGTGGCAGCGGGGGGGCCGG	0.766																																						ENST00000270235.4																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(1)	10						c.(520-522)gcfs		netrin 5							2	3	3					19																	49173724		1503	3173	4676	SO:0001589	frameshift_variant	126147					extracellular region		g.chr19:49173724delG		CCDS33068.1	19q13.33	2013-03-01			ENSG00000142233	ENSG00000142233		"Netrins"	25208	protein-coding gene	gene with protein product	"Netrin-5"					12477932	Standard	NM_145807		Approved		uc002pkb.3	Q8WTR8		ENST00000270235.4:c.520delC	19.37:g.49173724delG	ENSP00000270235:p.Arg174fs					SEC1P_ENST00000430145.2_RNA	p.R174fs	NM_145807.1	NP_665806.1	Q8WTR8	NET5_HUMAN			2	615	-			174			Laminin EGF-like 1.		Q8N4X9|Q8WU63	Frame_Shift_Del	DEL	ENST00000270235.4	37	c.520delC	CCDS33068.1																																																																																				0.766	NTN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466176.1	NM_145807		2	4						2	4	---	---	---	---	-	49173724	G	-	49173724	7	5	303	1	0	1	0	1	0	0	0	0	10703	1116	39	0	973	0	NTN5	19	49173724	Frame_Shift_Del	DEL	G	TCGA-KC-A7FD-01A-11D-A33T-08	27017233	49173724	9955259	55	14500											
KIAA0907	22889	broad.mit.edu	37	chr1	155887387	155887387	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgggagtgggggctggggcTggggctggggctgggggcca	2	7	26	6	0	0	0	0	0	0	0	0	1	0	1	1	11	0	4	1	11	0	1			TCGA-KC-A7FE-01A-12D-A33T-08	TCGA-KC-A7FE-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9eec79fd-cca8-4d92-bda0-c4d392cfa575	d917fdbc-60b4-4913-8359-0ed1fce972f3	g.chr1:155887387T>G	ENST00000368321.3	-	11	1366	c.1343A>C	c.(1342-1344)cAg>cCg	p.Q448P	KIAA0907_ENST00000368320.3_Missense_Mutation_p.Q448P|SNORA42_ENST00000384744.1_RNA	NM_014949.2	NP_055764.2	Q7Z7F0	K0907_HUMAN	KIAA0907	448	Pro-rich.						RNA binding (GO:0003723)			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|urinary_tract(1)	21	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;8.82e-06)			gggctggggctggggctgggg	0.577																																						ENST00000368320.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|urinary_tract(1)	21						c.(1342-1344)cAg>cCg		KIAA0907							21	26	24					1																	155887387		2157	4280	6437	SO:0001583	missense	22889							g.chr1:155887387T>G	BC062637	CCDS30885.1	1q22	2012-11-30			ENSG00000132680	ENSG00000132680			29145	protein-coding gene	gene with protein product						10048485	Standard	NM_014949		Approved	BLOM7	uc001fmi.1	Q7Z7F0	OTTHUMG00000014103	ENST00000368321.3:c.1343A>C	1.37:g.155887387T>G	ENSP00000357304:p.Gln448Pro					KIAA0907_ENST00000368321.3_Missense_Mutation_p.Q448P	p.Q448P			Q7Z7F0	K0907_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;8.82e-06)		11	1368	-	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		448			Pro-rich.		O94981|Q7L7Q2|Q7Z7E9|Q8TBQ0	Missense_Mutation	SNP	ENST00000368321.3	37	c.1343A>C	CCDS30885.1	.	.	.	.	.	.	.	.	.	.	T	16.21	3.059571	0.55325	.	.	ENSG00000132680	ENST00000368321;ENST00000368320	T;T	0.26373	1.74;1.74	5.38	-0.0592	0.13794	.	0.293405	0.37906	N	0.001888	T	0.05090	0.0136	N	0.08118	0	0.33304	D	0.565248	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.22977	-1.0201	10	0.40728	T	0.16	-0.087	14.4393	0.67303	0.0:0.0:0.4509:0.5491	.	448;448	Q7Z7F0-2;Q7Z7F0	.;K0907_HUMAN	P	448	ENSP00000357304:Q448P;ENSP00000357303:Q448P	ENSP00000357303:Q448P	Q	-	2	0	KIAA0907	154154011	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.525000	0.35953	0.158000	0.19367	0.533000	0.62120	CAG		0.577	KIAA0907-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039583.1	NM_014949		5	22	0	0	0	1	0	5	22					G	155887387	T	G	155887387	3	3	304	1	0	0	0	0	1	0	0	0	8199	1580	55	5	517	5	KIAA0907	1	155887387	Missense_Mutation	SNP	T	TCGA-KC-A7FE-01A-12D-A33T-08		155887387	93363234	1	14501											
CD48	962	broad.mit.edu	37	chr1	160651208	160651208	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cagtttcagataacagttgtCatccatgtcttctatcttct	9	17	5	10	0	6	1	2	0	4	1	7	1	7	1	1	0	1	2	1	0	2	6			TCGA-KC-A7FE-01A-12D-A33T-08	TCGA-KC-A7FE-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9eec79fd-cca8-4d92-bda0-c4d392cfa575	d917fdbc-60b4-4913-8359-0ed1fce972f3	g.chr1:160651208C>T	ENST00000368046.3	-	3	523	c.436G>A	c.(436-438)Gac>Aac	p.D146N	RP11-404F10.2_ENST00000443928.2_RNA|RP11-404F10.2_ENST00000588034.1_RNA|RP11-404F10.2_ENST00000598917.2_RNA	NM_001778.3	NP_001769.2	P09326	CD48_HUMAN	CD48 molecule	146	Ig-like C2-type 2.				blood coagulation (GO:0007596)|defense response (GO:0006952)|leukocyte migration (GO:0050900)|mast cell activation (GO:0045576)|signal transduction (GO:0007165)|T cell activation (GO:0042110)	anchored component of plasma membrane (GO:0046658)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	antigen binding (GO:0003823)|receptor activity (GO:0004872)			breast(2)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|stomach(1)	10	all_cancers(52;2.18e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)			TAACAGTTGTCATCCATGTCT	0.458																																						ENST00000368046.3																			0				breast(2)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|stomach(1)	10						c.(436-438)Gac>Aac		CD48 molecule							184	166	172					1																	160651208		2203	4300	6503	SO:0001583	missense	962				blood coagulation|defense response|leukocyte migration	integral to plasma membrane|membrane raft	protein binding	g.chr1:160651208C>T	BC016182	CCDS1208.1, CCDS72955.1	1q21.3-q22	2013-01-29	2006-03-31		ENSG00000117091	ENSG00000117091		"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	1683	protein-coding gene	gene with protein product		109530	"CD48 antigen (B-cell membrane protein)", "CD48 molecule "	BCM1		2828034	Standard	NM_001256030		Approved	BLAST, mCD48, hCD48, SLAMF2	uc001fwo.2	P09326	OTTHUMG00000024009	ENST00000368046.3:c.436G>A	1.37:g.160651208C>T	ENSP00000357025:p.Asp146Asn					RP11-404F10.2_ENST00000588034.1_RNA|RP11-404F10.2_ENST00000443928.2_RNA	p.D146N	NM_001778.3	NP_001769.2	P09326	CD48_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.0175)		3	523	-	all_cancers(52;2.18e-17)|all_hematologic(112;0.093)		146			Ig-like C2-type 2.		Q5U055|Q8MGR0	Missense_Mutation	SNP	ENST00000368046.3	37	c.436G>A	CCDS1208.1	.	.	.	.	.	.	.	.	.	.	C	0.014	-1.575737	0.00887	.	.	ENSG00000117091	ENST00000368046	T	0.38240	1.15	3.38	1.03	0.20045	Immunoglobulin-like (1);	1.201710	0.05686	N	0.591370	T	0.05686	0.0149	N	0.21373	0.66	0.09310	N	0.999995	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.22452	-1.0216	10	0.02654	T	1	0.0141	4.6766	0.12715	0.0:0.4723:0.0:0.5277	.	146;146	Q6IAZ2;P09326	.;CD48_HUMAN	N	146	ENSP00000357025:D146N	ENSP00000357025:D146N	D	-	1	0	CD48	158917832	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.457000	0.21875	0.200000	0.20447	-0.302000	0.09304	GAC		0.458	CD48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060471.1	NM_001778		21	100	0	0	0	1	0	21	100					T	160651208	C	T	160651208	3	4	304	1	0	0	0	0	1	0	0	0	3020	826	29	3	303	3	CD48	1	160651208	Missense_Mutation	SNP	C	TCGA-KC-A7FE-01A-12D-A33T-08	4763821	160651208	88599413	2	14502											
TPO	7173	broad.mit.edu	37	chr2	1426846	1426846	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggagtctcgtgtctctagcGtcttggaggaaagcaagcgc	9	9	14	9	3	3	0	0	0	3	0	5	3	3	3	0	3	3	1	0	3	3	2	rs147325430		TCGA-KC-A7FE-01A-12D-A33T-08	TCGA-KC-A7FE-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9eec79fd-cca8-4d92-bda0-c4d392cfa575	d917fdbc-60b4-4913-8359-0ed1fce972f3	g.chr2:1426846G>A	ENST00000345913.4	+	3	215	c.124G>A	c.(124-126)Gtc>Atc	p.V42I	TPO_ENST00000337415.3_Missense_Mutation_p.V42I|TPO_ENST00000382269.3_Missense_Mutation_p.V42I|TPO_ENST00000349624.3_Missense_Mutation_p.V42I|TPO_ENST00000539820.1_Missense_Mutation_p.V42I|TPO_ENST00000382198.1_Missense_Mutation_p.V42I|TPO_ENST00000329066.4_Missense_Mutation_p.V42I|TPO_ENST00000497517.2_Intron|TPO_ENST00000346956.3_Missense_Mutation_p.V42I|TPO_ENST00000382201.3_Missense_Mutation_p.V42I	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN	thyroid peroxidase	42					cellular nitrogen compound metabolic process (GO:0034641)|embryonic hemopoiesis (GO:0035162)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide catabolic process (GO:0042744)|small molecule metabolic process (GO:0044281)|thyroid hormone generation (GO:0006590)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|heme binding (GO:0020037)|iodide peroxidase activity (GO:0004447)|peroxidase activity (GO:0004601)			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Dextrothyroxine(DB00509)|Methimazole(DB00763)|Propylthiouracil(DB00550)	TGTCTCTAGCGTCTTGGAGGA	0.572													G|||	1	0.000199681	8e-04	0	5008	,	,		18877	0		0	False		,,,				2504	0					ENST00000345913.4																			0				breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95						c.(124-126)Gtc>Atc		thyroid peroxidase	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)	G	ILE/VAL,ILE/VAL,ILE/VAL,ILE/VAL,ILE/VAL,ILE/VAL	5,4401	8.1+/-20.4	0,5,2198	122	98	106		124,124,124,124,124,124	-6	0	2	dbSNP_134	106	0,8600		0,0,4300	yes	missense,missense,missense,missense,missense,missense	TPO	NM_000547.5,NM_001206744.1,NM_001206745.1,NM_175719.3,NM_175721.3,NM_175722.3	29,29,29,29,29,29	0,5,6498	AA,AG,GG		0.0,0.1135,0.0384	benign,benign,benign,benign,benign,benign	42/934,42/934,42/877,42/877,42/890,42/761	1426846	5,13001	2203	4300	6503	SO:0001583	missense	7173				cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity	g.chr2:1426846G>A		CCDS1643.1, CCDS1644.1, CCDS1646.1	2p25	2008-02-05			ENSG00000115705	ENSG00000115705	1.11.1.7		12015	protein-coding gene	gene with protein product		606765					Standard	NM_175722		Approved	TPX	uc002qww.3	P07202	OTTHUMG00000090271	ENST00000345913.4:c.124G>A	2.37:g.1426846G>A	ENSP00000318820:p.Val42Ile					TPO_ENST00000497517.2_Intron|TPO_ENST00000382269.3_Missense_Mutation_p.V42I|TPO_ENST00000539820.1_Missense_Mutation_p.V42I|TPO_ENST00000346956.3_Missense_Mutation_p.V42I|TPO_ENST00000382201.3_Missense_Mutation_p.V42I|TPO_ENST00000329066.4_Missense_Mutation_p.V42I|TPO_ENST00000382198.1_Missense_Mutation_p.V42I|TPO_ENST00000337415.3_Missense_Mutation_p.V42I|TPO_ENST00000349624.3_Missense_Mutation_p.V42I	p.V42I	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	3	215	+	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)	42					P09934|P09935|Q8IUL0|Q8NF94|Q8NF95|Q8NF96|Q8NF97|Q8TCI9	Missense_Mutation	SNP	ENST00000345913.4	37	c.124G>A	CCDS1643.1	.	.	.	.	.	.	.	.	.	.	G	2.993	-0.207709	0.06180	0.001135	0.0	ENSG00000115705	ENST00000382269;ENST00000337415;ENST00000345913;ENST00000346956;ENST00000349624;ENST00000539820;ENST00000329066;ENST00000382201;ENST00000423320;ENST00000382198	T;T;T;T;T;T;T;T;T;T	0.61859	0.07;0.07;0.07;0.07;0.07;0.07;0.07;0.07;0.07;0.07	3.72	-6.03	0.02185	.	1.395640	0.05248	N	0.513418	T	0.28333	0.0700	N	0.02736	-0.51	0.09310	N	1	B;B;B;B;B	0.15473	0.003;0.0;0.013;0.007;0.004	B;B;B;B;B	0.06405	0.001;0.001;0.002;0.001;0.001	T	0.29397	-1.0013	10	0.14656	T	0.56	-2.3701	11.1947	0.48707	0.4161:0.0:0.5839:0.0	.	42;42;42;42;42	P07202-4;P07202-5;E9PFM6;P07202-2;P07202	.;.;.;.;PERT_HUMAN	I	42	ENSP00000371704:V42I;ENSP00000337263:V42I;ENSP00000318820:V42I;ENSP00000263886:V42I;ENSP00000332044:V42I;ENSP00000444840:V42I;ENSP00000329869:V42I;ENSP00000371636:V42I;ENSP00000390994:V42I;ENSP00000371633:V42I	ENSP00000329869:V42I	V	+	1	0	TPO	1405853	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.000000	0.03693	-1.256000	0.02478	-1.740000	0.00687	GTC		0.572	TPO-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206594.2	NM_000547		4	43	0	0	0	1	0	4	43					A	1426846	G	A	1426846	3	1	304	1	0	0	0	0	1	0	0	0	16407	1145	40	1	130	1	TPO	2	1426846	Missense_Mutation	SNP	G	TCGA-KC-A7FE-01A-12D-A33T-08		1426846	241772527	3	14503											
CCDC13	152206	broad.mit.edu	37	chr3	42754746	42754746	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gttgctccagcaccacggtgCggtgtcgctcctcctgcagc	4	9	12	16	3	0	0	0	0	0	0	4	0	3	0	4	2	5	5	4	2	0	1			TCGA-KC-A7FE-01A-12D-A33T-08	TCGA-KC-A7FE-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9eec79fd-cca8-4d92-bda0-c4d392cfa575	d917fdbc-60b4-4913-8359-0ed1fce972f3	g.chr3:42754746C>T	ENST00000310232.6	-	14	1864	c.1781G>A	c.(1780-1782)cGc>cAc	p.R594H		NM_144719.3	NP_653320.3	Q8IYE1	CCD13_HUMAN	coiled-coil domain containing 13	594										endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(11)|ovary(1)|prostate(3)|skin(1)|urinary_tract(1)	25						CACCACGGTGCGGTGTCGCTC	0.607																																						ENST00000310232.6																			0				endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(11)|ovary(1)|prostate(3)|skin(1)|urinary_tract(1)	25						c.(1780-1782)cGc>cAc		coiled-coil domain containing 13							116	106	109					3																	42754746		2203	4300	6503	SO:0001583	missense	152206							g.chr3:42754746C>T	AK058196	CCDS2705.1	3p22.1	2005-01-25			ENSG00000244607	ENSG00000244607			26358	protein-coding gene	gene with protein product						12477932	Standard	NM_144719		Approved	FLJ25467	uc003cly.4	Q8IYE1	OTTHUMG00000133046	ENST00000310232.6:c.1781G>A	3.37:g.42754746C>T	ENSP00000309836:p.Arg594His						p.R594H	NM_144719.3	NP_653320.3	Q8IYE1	CCD13_HUMAN			14	1864	-			594						Missense_Mutation	SNP	ENST00000310232.6	37	c.1781G>A	CCDS2705.1	.	.	.	.	.	.	.	.	.	.	C	18.07	3.541133	0.65085	.	.	ENSG00000244607	ENST00000310232	T	0.12774	2.65	5.26	4.39	0.52855	.	0.063670	0.64402	N	0.000014	T	0.34106	0.0886	M	0.77616	2.38	0.09310	N	0.999999	D	0.71674	0.998	D	0.63703	0.917	T	0.14364	-1.0475	10	0.59425	D	0.04	.	11.6124	0.51069	0.0:0.9126:0.0:0.0874	.	594	Q8IYE1	CCD13_HUMAN	H	594	ENSP00000309836:R594H	ENSP00000309836:R594H	R	-	2	0	CCDC13	42729750	0.758000	0.28405	0.052000	0.19188	0.792000	0.44763	2.960000	0.49161	1.228000	0.43614	0.591000	0.81541	CGC		0.607	CCDC13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256652.1	NM_144719		4	105	0	0	0	1	0	4	105					T	42754746	C	T	42754746	3	4	304	1	0	0	0	0	1	0	0	0	2765	768	27	1	378	1	CCDC13	3	42754746	Missense_Mutation	SNP	C	TCGA-KC-A7FE-01A-12D-A33T-08		42754746	155267684	4	14504											
C3orf54	7318	broad.mit.edu	37	chr3	49842264	49842264	+	IGR	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tctgagcagcttcggcgccgGctggccagggctcggcggac	4	6	17	14	5	1	1	0	1	1	0	3	2	1	2	2	6	2	4	2	6	0	1			TCGA-KC-A7FE-01A-12D-A33T-08	TCGA-KC-A7FE-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9eec79fd-cca8-4d92-bda0-c4d392cfa575	d917fdbc-60b4-4913-8359-0ed1fce972f3	g.chr3:49842264G>A	ENST00000333486.3	-	0	3299				MIR5193_ENST00000584510.1_RNA|FAM212A_ENST00000333323.4_Silent_p.R236R	NM_003335.2	NP_003326.2	P41226	UBA7_HUMAN	ubiquitin-like modifier activating enzyme 7						cellular protein modification process (GO:0006464)|cytokine-mediated signaling pathway (GO:0019221)|innate immune response (GO:0045087)|ISG15-protein conjugation (GO:0032020)|modification-dependent protein catabolic process (GO:0019941)|negative regulation of type I interferon production (GO:0032480)|protein ubiquitination (GO:0016567)	cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ISG15 activating enzyme activity (GO:0019782)|ubiquitin activating enzyme activity (GO:0004839)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(15)|large_intestine(4)|lung(7)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;3.58e-06)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		TTCGGCGCCGGCTGGCCAGGG	0.667																																						ENST00000333323.4																			0											c.(706-708)cgG>cgA		family with sequence similarity 212, member A							58	68	65					3																	49842264		2203	4297	6500	SO:0001628	intergenic_variant	389119							g.chr3:49842264G>A	BC006378	CCDS2805.1	3p21	2007-11-30	2007-11-30	2007-11-30	ENSG00000182179	ENSG00000182179		"Ubiquitin-like modifier activating enzymes"	12471	protein-coding gene	gene with protein product	"UBA1, ubiquitin-activating enzyme E1 homolog B (yeast)", "UBA7, ubiquitin-activating enzyme E1"	191325	"ubiquitin-activating enzyme E1-like"	UBE1L		8327486	Standard	NM_003335		Approved	D8, UBE2, UBA1B	uc003cxr.3	P41226	OTTHUMG00000158267		3.37:g.49842264G>A							p.R236R	NM_203370.1	NP_976248.1	Q96EL1	CC054_HUMAN			2	841	+			234					Q9BRB2	Silent	SNP	ENST00000333486.3	37	c.708G>A	CCDS2805.1																																																																																				0.667	UBA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350503.1	NM_003335		4	90	0	0	0	1	0	4	90					A	49842264	G	A	49842264	1	1	304	0	1	0	0	0	0	0	0	0	2233	1190	42	3		3	C3orf54	3	49842264	IGR	SNP	G	TCGA-KC-A7FE-01A-12D-A33T-08	7087518	49842264	148180166	5	14505											
FSTL5	56884	broad.mit.edu	37	chr4	162697126	162697126	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcttccgagatatgtcgtcGccattaggattttcattttc	7	18	7	9	3	2	1	1	0	1	1	6	3	3	2	2	1	0	0	2	1	2	8			TCGA-KC-A7FE-01A-12D-A33T-08	TCGA-KC-A7FE-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9eec79fd-cca8-4d92-bda0-c4d392cfa575	d917fdbc-60b4-4913-8359-0ed1fce972f3	g.chr4:162697126G>A	ENST00000306100.5	-	5	946	c.510C>T	c.(508-510)ggC>ggT	p.G170G	FSTL5_ENST00000427802.2_Silent_p.G169G|FSTL5_ENST00000379164.4_Silent_p.G169G|FSTL5_ENST00000536695.1_Silent_p.G169G	NM_001128427.2|NM_020116.4	NP_001121899.1|NP_064501.2	Q8N475	FSTL5_HUMAN	follistatin-like 5	170						extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		ATATGTCGTCGCCATTAGGAT	0.308																																						ENST00000306100.5																			0				central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91						c.(508-510)ggC>ggT		follistatin-like 5							95	94	94					4																	162697126		2203	4294	6497	SO:0001819	synonymous_variant	56884					extracellular region	calcium ion binding	g.chr4:162697126G>A	BC036502	CCDS3802.1, CCDS47157.1, CCDS47158.1	4q32.3	2013-01-11			ENSG00000168843	ENSG00000168843		"EF-hand domain containing", "Immunoglobulin superfamily / I-set domain containing"	21386	protein-coding gene	gene with protein product						10574462, 15527507	Standard	NM_020116		Approved	DKFZp566D234, KIAA1263	uc003iqh.4	Q8N475	OTTHUMG00000161397	ENST00000306100.5:c.510C>T	4.37:g.162697126G>A						FSTL5_ENST00000427802.2_Silent_p.G169G|FSTL5_ENST00000536695.1_Silent_p.G169G|FSTL5_ENST00000379164.4_Silent_p.G169G	p.G170G	NM_001128427.2|NM_020116.4	NP_001121899.1|NP_064501.2	Q8N475	FSTL5_HUMAN		COAD - Colon adenocarcinoma(41;0.179)	5	946	-	all_hematologic(180;0.24)		170					E9PCP6|Q9NSW7|Q9ULF7	Silent	SNP	ENST00000306100.5	37	c.510C>T	CCDS3802.1																																																																																				0.308	FSTL5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364773.2	NM_020116		7	48	0	0	0	1	0	7	48					A	162697126	G	A	162697126	2	1	304	1	0	0	0	0	0	0	0	1	6080	1074	38	1		1	FSTL5	4	162697126	Silent	SNP	G	TCGA-KC-A7FE-01A-12D-A33T-08		162697126	28457150	6	14506											
EGFLAM	133584	broad.mit.edu	37	chr5	38438486	38438486	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cccttgtgcccatgggggcaGctgccggcccaggaaggagg	6	5	17	13	1	0	0	0	0	0	0	0	2	0	2	4	6	3	2	4	6	1	1			TCGA-KC-A7FE-01A-12D-A33T-08	TCGA-KC-A7FE-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9eec79fd-cca8-4d92-bda0-c4d392cfa575	d917fdbc-60b4-4913-8359-0ed1fce972f3	g.chr5:38438486G>A	ENST00000354891.3	+	17	2739	c.2393G>A	c.(2392-2394)aGc>aAc	p.S798N	EGFLAM_ENST00000322350.5_Missense_Mutation_p.S798N|EGFLAM_ENST00000336740.6_Missense_Mutation_p.S564N|EGFLAM_ENST00000397202.2_Missense_Mutation_p.S164N	NM_001205301.1	NP_001192230.1	Q63HQ2	EGFLA_HUMAN	EGF-like, fibronectin type III and laminin G domains	798	EGF-like 3. {ECO:0000255|PROSITE- ProRule:PRU00076}.				extracellular matrix organization (GO:0030198)|peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)|positive regulation of cell-substrate adhesion (GO:0010811)	basement membrane (GO:0005604)|cell junction (GO:0030054)|interstitial matrix (GO:0005614)|synapse (GO:0045202)	glycosaminoglycan binding (GO:0005539)			NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85	all_lung(31;0.000385)					CATGGGGGCAGCTGCCGGCCC	0.607																																					Colon(62;485 1295 3347 17454)	ENST00000322350.5																			0				NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85						c.(2392-2394)aGc>aAc		EGF-like, fibronectin type III and laminin G domains							41	42	42					5																	38438486		2203	4300	6503	SO:0001583	missense	133584					cell junction|proteinaceous extracellular matrix|synapse		g.chr5:38438486G>A	AK097549	CCDS3924.1, CCDS3925.1, CCDS47199.1, CCDS56363.1	5p13.2-p13.1	2014-04-03			ENSG00000164318	ENSG00000164318		"Fibronectin type III domain containing"	26810	protein-coding gene	gene with protein product	"pikachurin", "agrin-like"					18641643, 20078962, 22760553	Standard	NM_182801		Approved	FLJ39155, AGRINL, AGRNL, PIKA	uc003jlc.2	Q63HQ2	OTTHUMG00000131139	ENST00000354891.3:c.2393G>A	5.37:g.38438486G>A	ENSP00000346964:p.Ser798Asn					EGFLAM_ENST00000354891.3_Missense_Mutation_p.S798N|EGFLAM_ENST00000336740.6_Missense_Mutation_p.S564N|EGFLAM_ENST00000397202.2_Missense_Mutation_p.S164N	p.S798N	NM_152403.3	NP_689616.2	Q63HQ2	EGFLA_HUMAN			17	2739	+	all_lung(31;0.000385)		798			EGF-like 3.		A8K6D7|Q5U643|Q6P3V1|Q8N124|Q8N197|Q8N7Y0|Q8N8N5|Q8NAL2	Missense_Mutation	SNP	ENST00000354891.3	37	c.2393G>A	CCDS56363.1	.	.	.	.	.	.	.	.	.	.	G	17.25	3.340872	0.60963	.	.	ENSG00000164318	ENST00000354891;ENST00000322350;ENST00000336740;ENST00000397202;ENST00000339580	T;T;T;D	0.92299	-1.21;-1.21;-1.21;-3.01	5.73	5.73	0.89815	Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.084821	0.85682	D	0.000000	D	0.90435	0.7005	L	0.45581	1.43	0.80722	D	1	P;P;P	0.47762	0.9;0.745;0.696	B;B;B	0.43990	0.39;0.276;0.438	D	0.90228	0.4277	10	0.44086	T	0.13	-4.3824	16.5568	0.84487	0.0:0.1987:0.8013:0.0	.	564;798;798	Q63HQ2-4;Q63HQ2;Q63HQ2-2	.;EGFLA_HUMAN;.	N	798;798;564;164;564	ENSP00000346964:S798N;ENSP00000313084:S798N;ENSP00000337607:S564N;ENSP00000380385:S164N	ENSP00000313084:S798N	S	+	2	0	EGFLAM	38474243	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.855000	0.39378	2.696000	0.92011	0.655000	0.94253	AGC		0.607	EGFLAM-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000367323.1	NM_152403		3	22	0	0	0	1	0	3	22					A	38438486	G	A	38438486	3	1	304	1	0	0	0	0	1	0	0	0	4966	971	34	3	2473	3	EGFLAM	5	38438486	Missense_Mutation	SNP	G	TCGA-KC-A7FE-01A-12D-A33T-08		38438486	142476774	7	14507											
PCDHB7	56129	broad.mit.edu	37	chr5	140554117	140554117	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtgctgtacccgctgcagaaCagctccgcgccctgcaccga	7	6	11	17	4	0	1	0	0	0	1	1	2	1	1	4	0	6	6	4	0	2	1	rs13189269		TCGA-KC-A7FE-01A-12D-A33T-08	TCGA-KC-A7FE-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9eec79fd-cca8-4d92-bda0-c4d392cfa575	d917fdbc-60b4-4913-8359-0ed1fce972f3	g.chr5:140554117C>T	ENST00000231137.3	+	1	1875	c.1701C>T	c.(1699-1701)aaC>aaT	p.N567N		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN	protocadherin beta 7	567					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CGCTGCAGAACAGCTCCGCGC	0.726																																						ENST00000231137.3																			0				NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						c.(1699-1701)aaC>aaT									28	34	32					5																	140554117		2181	4292	6473	SO:0001819	synonymous_variant	0				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140554117C>T	AF152500	CCDS4249.1	5q31	2010-01-26			ENSG00000113212	ENSG00000113212		"Cadherins / Protocadherins : Clustered"	8692	other	protocadherin		606333				10380929	Standard	NM_018940		Approved	PCDH-BETA7	uc003lit.3	Q9Y5E2	OTTHUMG00000129608	ENST00000231137.3:c.1701C>T	5.37:g.140554117C>T							p.N567N	NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1875	+			567					A1L3Y8	Silent	SNP	ENST00000231137.3	37	c.1701C>T	CCDS4249.1	.	.	.	.	.	.	.	.	.	.	c	4.703	0.130812	0.08981	.	.	ENSG00000113212	ENST00000543636	.	.	.	4.3	3.4	0.38934	.	.	.	.	.	T	0.65428	0.2690	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.68815	-0.5309	5	0.87932	D	0	.	9.4642	0.38802	0.0:0.8235:0.0:0.1765	rs13189269	.	.	.	I	350	.	ENSP00000440828:T350I	T	+	2	0	PCDHB7	140534301	0.000000	0.05858	0.983000	0.44433	0.715000	0.41141	-0.337000	0.07852	2.099000	0.63709	0.449000	0.29647	ACA		0.726	PCDHB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251803.2	NM_018940		4	88	0	0	0	1	0	4	88					T	140554117	C	T	140554117	2	4	304	1	0	0	0	0	0	0	0	1	11547	477	17	3		3	PCDHB7	5	140554117	Silent	SNP	C	TCGA-KC-A7FE-01A-12D-A33T-08	102115631	140554117	40361143	8	14508											
SFRS18	25957	broad.mit.edu	37	chr6	99852521	99852521	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atctttggctacgtaataaaTttcttcatctgtgacatcca	11	16	5	9	1	4	1	1	1	3	0	5	1	5	1	1	1	1	2	1	1	4	6			TCGA-KC-A7FE-01A-12D-A33T-08	TCGA-KC-A7FE-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9eec79fd-cca8-4d92-bda0-c4d392cfa575	d917fdbc-60b4-4913-8359-0ed1fce972f3	g.chr6:99852521T>G	ENST00000369239.5	-	9	1264	c.1060A>C	c.(1060-1062)Att>Ctt	p.I354L	PNISR_ENST00000438806.1_Missense_Mutation_p.I354L	NM_032870.2	NP_116259.2	Q8TF01	PNISR_HUMAN	PNN-interacting serine/arginine-rich protein	354						cytoplasm (GO:0005737)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(2)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24						ACGTAATAAATTTCTTCATCT	0.343																																						ENST00000369239.5																			0				breast(2)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24						c.(1060-1062)Att>Ctt		PNN-interacting serine/arginine-rich protein							122	118	119					6																	99852521		2203	4300	6503	SO:0001583	missense	25957					nuclear speck		g.chr6:99852521T>G	AK027759	CCDS5043.1	6q16.3	2011-06-06	2011-06-06	2011-06-06	ENSG00000132424	ENSG00000132424			21222	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 111", "splicing factor, arginine/serine-rich 18"	C6orf111, SFRS18		14578391	Standard	NM_032870		Approved	FLJ14752, bA98I9.2, DKFZp564B0769, SRrp130	uc021zdd.1	Q8TF01	OTTHUMG00000015262	ENST00000369239.5:c.1060A>C	6.37:g.99852521T>G	ENSP00000358242:p.Ile354Leu					PNISR_ENST00000438806.1_Missense_Mutation_p.I354L	p.I354L	NM_032870.2	NP_116259.2	Q8TF01	PNISR_HUMAN			9	1264	-			354					A8K540|E1P5D2|Q5T064|Q5T065|Q6P2B4|Q6P2N4|Q6PJ93|Q6PK36|Q7Z640|Q8N2L1|Q8TF00|Q96K10|Q96SI3|Q96SM5|Q9P076|Q9P0C0|Q9Y4N3	Missense_Mutation	SNP	ENST00000369239.5	37	c.1060A>C	CCDS5043.1	.	.	.	.	.	.	.	.	.	.	T	19.15	3.771279	0.69992	.	.	ENSG00000132424	ENST00000369239;ENST00000438806	T;T	0.41065	1.01;1.01	5.44	5.44	0.79542	.	0.000000	0.85682	D	0.000000	T	0.49847	0.1581	L	0.60455	1.87	0.80722	D	1	D	0.56968	0.978	D	0.67725	0.953	T	0.46830	-0.9163	10	0.37606	T	0.19	.	15.4943	0.75637	0.0:0.0:0.0:1.0	.	354	Q8TF01	PNISR_HUMAN	L	354	ENSP00000358242:I354L;ENSP00000387997:I354L	ENSP00000358242:I354L	I	-	1	0	PNISR	99959242	1.000000	0.71417	1.000000	0.80357	0.798000	0.45092	5.818000	0.69236	2.059000	0.61396	0.523000	0.50628	ATT		0.343	PNISR-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041598.1	NM_032870		7	45	0	0	0	1	0	7	45					G	99852521	T	G	99852521	3	3	304	1	0	0	0	0	1	0	0	0	14174	1493	52	5	1373	5	SFRS18	6	99852521	Missense_Mutation	SNP	T	TCGA-KC-A7FE-01A-12D-A33T-08		99852521	71262546	9	14509											
JAZF1	221895	broad.mit.edu	37	chr7	27872484	27872484	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaaattgattgtgtggtgccGcaggccctgagctgtcttgt	6	13	14	8	1	1	2	0	2	1	0	1	3	1	2	2	2	2	2	2	2	1	3	rs562255429		TCGA-KC-A7FE-01A-12D-A33T-08	TCGA-KC-A7FE-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9eec79fd-cca8-4d92-bda0-c4d392cfa575	d917fdbc-60b4-4913-8359-0ed1fce972f3	g.chr7:27872484G>A	ENST00000283928.5	-	5	832	c.667C>T	c.(667-669)Cgg>Tgg	p.R223W	JAZF1_ENST00000466516.1_5'UTR	NM_175061.3	NP_778231.2	Q86VZ6	JAZF1_HUMAN	JAZF zinc finger 1	223					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|transcription corepressor activity (GO:0003714)		JAZF1/SUZ12(133)	endometrium(1)|large_intestine(1)|lung(4)	6						GTGTGGTGCCGCAGGCCCTGA	0.488			T	SUZ12	endometrial stromal tumours								G|||	1	0.000199681	8e-04	0	5008	,	,		17379	0		0	False		,,,				2504	0					ENST00000283928.5				Dom	yes		7	7p15.2-p15.1	221895	T	juxtaposed with another zinc finger gene 1			M	SUZ12		endometrial stromal tumours	JAZF1/SUZ12(133)	0				endometrium(1)|large_intestine(1)|lung(4)	6						c.(667-669)Cgg>Tgg		JAZF zinc finger 1							167	152	157					7																	27872484		2203	4300	6503	SO:0001583	missense	221895				negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	transcriptional repressor complex	nucleic acid binding|transcription corepressor activity|zinc ion binding	g.chr7:27872484G>A	BC047229	CCDS5416.1	7p15.2-p15.1	2010-04-14			ENSG00000153814	ENSG00000153814		"Zinc fingers, C2H2-type"	28917	protein-coding gene	gene with protein product		606246				8401585	Standard	XM_006715656		Approved	TIP27, DKFZp761K2222, ZNF802	uc003szn.3	Q86VZ6	OTTHUMG00000128545	ENST00000283928.5:c.667C>T	7.37:g.27872484G>A	ENSP00000283928:p.Arg223Trp					JAZF1_ENST00000466516.1_5'UTR|TAX1BP1_ENST00000488564.1_Intron	p.R223W	NM_175061.3	NP_778231.2	Q86VZ6	JAZF1_HUMAN			5	832	-			223					A4D195|Q8N3L7	Missense_Mutation	SNP	ENST00000283928.5	37	c.667C>T	CCDS5416.1	.	.	.	.	.	.	.	.	.	.	G	17.76	3.468722	0.63625	.	.	ENSG00000153814	ENST00000283928	T	0.79247	-1.25	6.17	5.25	0.73442	Zinc finger, C2H2-like (1);	0.000000	0.85682	D	0.000000	D	0.87939	0.6304	M	0.77820	2.39	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	D	0.88631	0.3169	10	0.87932	D	0	-15.3027	16.4205	0.83757	0.0:0.0:0.868:0.132	.	223	Q86VZ6	JAZF1_HUMAN	W	223	ENSP00000283928:R223W	ENSP00000283928:R223W	R	-	1	2	JAZF1	27839009	1.000000	0.71417	1.000000	0.80357	1.000000	0.99986	2.499000	0.45372	2.941000	0.99782	0.655000	0.94253	CGG		0.488	JAZF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250382.2	NM_175061		4	95	0	0	0	1	0	4	95					A	27872484	G	A	27872484	3	1	304	1	0	0	0	0	1	0	0	0	7946	1086	38	1	68	1	JAZF1	7	27872484	Missense_Mutation	SNP	G	TCGA-KC-A7FE-01A-12D-A33T-08		27872484	131266179	10	14510											
INHBC	3626	broad.mit.edu	37	chr12	57843452	57843452	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaaacaccagattcaccgaCgaggcatcgactgccaagga	14	4	10	13	3	1	1	1	0	0	1	2	5	1	2	3	2	2	2	3	2	2	1			TCGA-KC-A7FE-01A-12D-A33T-08	TCGA-KC-A7FE-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9eec79fd-cca8-4d92-bda0-c4d392cfa575	d917fdbc-60b4-4913-8359-0ed1fce972f3	g.chr12:57843452C>T	ENST00000309668.2	+	2	833	c.706C>T	c.(706-708)Cga>Tga	p.R236*		NM_005538.2	NP_005529.1	P55103	INHBC_HUMAN	inhibin, beta C	236					growth (GO:0040007)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	transforming growth factor beta receptor binding (GO:0005160)			breast(2)|endometrium(1)|large_intestine(6)|liver(2)|lung(4)|prostate(1)	16						GATTCACCGACGAGGCATCGA	0.582																																						ENST00000309668.2																			0				breast(2)|endometrium(1)|large_intestine(6)|liver(2)|lung(4)|prostate(1)	16						c.(706-708)Cga>Tga		inhibin, beta C							86	78	81					12																	57843452		2203	4300	6503	SO:0001587	stop_gained	3626				growth	extracellular region	growth factor activity|hormone activity|transforming growth factor beta receptor binding	g.chr12:57843452C>T		CCDS8938.1	12q13	2008-02-05				ENSG00000175189			6068	protein-coding gene	gene with protein product		601233				7826378	Standard	NM_005538		Approved		uc001snv.1	P55103	OTTHUMG00000169994	ENST00000309668.2:c.706C>T	12.37:g.57843452C>T	ENSP00000308716:p.Arg236*					INHBC_ENST00000550133.1_Intron	p.R236*	NM_005538.2	NP_005529.1	P55103	INHBC_HUMAN			2	833	+			236					A1L3Y2	Nonsense_Mutation	SNP	ENST00000309668.2	37	c.706C>T	CCDS8938.1	.	.	.	.	.	.	.	.	.	.	C	26.7	4.764409	0.89932	.	.	ENSG00000175189	ENST00000309668	.	.	.	3.89	3.89	0.44902	.	0.234953	0.34002	N	0.004348	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1957	15.8415	0.78848	0.0:1.0:0.0:0.0	.	.	.	.	X	236	.	.	R	+	1	2	INHBC	56129719	0.993000	0.37304	0.998000	0.56505	0.809000	0.45718	3.008000	0.49544	2.484000	0.83849	0.650000	0.86243	CGA		0.582	INHBC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406770.1	NM_005538		4	55	0	0	0	1	0	4	55					T	57843452	C	T	57843452	4	4	304	1	0	0	0	0	0	1	0	0	7743	528	19	1	712	1	INHBC	12	57843452	Nonsense_Mutation	SNP	C	TCGA-KC-A7FE-01A-12D-A33T-08		57843452	76008443	11	14511											
MYO9A	4649	broad.mit.edu	37	chr15	72119078	72119078	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tctttaatttttgtttgcccTtttccgggttgaaggttcct	4	21	8	8	1	1	1	0	1	1	0	3	1	3	1	3	2	1	3	3	2	2	9			TCGA-KC-A7FE-01A-12D-A33T-08	TCGA-KC-A7FE-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9eec79fd-cca8-4d92-bda0-c4d392cfa575	d917fdbc-60b4-4913-8359-0ed1fce972f3	g.chr15:72119078T>C	ENST00000356056.5	-	42	7962	c.7490A>G	c.(7489-7491)aAg>aGg	p.K2497R	MYO9A_ENST00000444904.1_Missense_Mutation_p.K2478R|MYO9A_ENST00000424560.1_Missense_Mutation_p.K2568R|MYO9A_ENST00000564571.1_3'UTR	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN	myosin IXA	2497	Tail.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|visual perception (GO:0007601)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|unconventional myosin complex (GO:0016461)	ATP binding (GO:0005524)|GTPase activator activity (GO:0005096)|metal ion binding (GO:0046872)|motor activity (GO:0003774)			NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						TTGTTTGCCCTTTTCCGGGTT	0.488																																						ENST00000356056.5																			0				NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						c.(7489-7491)aAg>aGg		myosin IXA							160	164	163					15																	72119078		2199	4297	6496	SO:0001583	missense	4649				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception	cytosol|integral to membrane|unconventional myosin complex	actin binding|ATP binding|GTPase activator activity|metal ion binding|motor activity	g.chr15:72119078T>C	AF117888	CCDS10239.1	15q22-q23	2011-09-27			ENSG00000066933	ENSG00000066933		"Myosins / Myosin superfamily : Class IX"	7608	protein-coding gene	gene with protein product		604875				10409426	Standard	NM_006901		Approved	FLJ11061, FLJ13244, MGC71859	uc002atl.5	B2RTY4	OTTHUMG00000133440	ENST00000356056.5:c.7490A>G	15.37:g.72119078T>C	ENSP00000348349:p.Lys2497Arg					MYO9A_ENST00000424560.1_Missense_Mutation_p.K2568R|MYO9A_ENST00000564571.1_3'UTR|MYO9A_ENST00000444904.1_Missense_Mutation_p.K2478R	p.K2497R	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN			42	7962	-			2497			Tail.		B0I1T5|C9IYB3|C9JA86|Q14787|Q3YLD7|Q3YLD8|Q6P986|Q9H8T5|Q9NTG2|Q9NUY2|Q9UEP3|Q9UNJ2	Missense_Mutation	SNP	ENST00000356056.5	37	c.7490A>G	CCDS10239.1	.	.	.	.	.	.	.	.	.	.	T	15.14	2.745226	0.49151	.	.	ENSG00000066933	ENST00000356056;ENST00000424560;ENST00000444904	D;D;D	0.89939	-2.57;-2.59;-2.56	5.2	2.83	0.33086	.	.	.	.	.	T	0.81264	0.4786	L	0.34521	1.04	0.44117	D	0.996897	B;B	0.21905	0.062;0.01	B;B	0.18263	0.021;0.017	T	0.72966	-0.4131	9	0.62326	D	0.03	.	6.9767	0.24679	0.1332:0.0732:0.0:0.7935	.	2497;2261	B2RTY4;B2RTY4-5	MYO9A_HUMAN;.	R	2497;2568;2478	ENSP00000348349:K2497R;ENSP00000399162:K2568R;ENSP00000398250:K2478R	ENSP00000348349:K2497R	K	-	2	0	MYO9A	69906132	1.000000	0.71417	1.000000	0.80357	0.388000	0.30384	5.802000	0.69122	0.278000	0.22164	-0.490000	0.04691	AAG		0.488	MYO9A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257308.1	NM_006901		3	119	0	0	0	1	0	3	119					C	72119078	T	C	72119078	3	2	304	1	0	0	0	0	1	0	0	0	10084	1609	56	4	160	4	MYO9A	15	72119078	Missense_Mutation	SNP	T	TCGA-KC-A7FE-01A-12D-A33T-08		72119078	30412314	12	14512											
GLOD4	51031	broad.mit.edu	37	chr17	663480	663480	+	Splice_Site	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttatctgctgccattgccTgtaaaatagaaatagaatat	14	15	6	6	0	1	2	0	0	1	2	1	2	1	2	2	0	3	2	2	0	8	7			TCGA-KC-A7FE-01A-12D-A33T-08	TCGA-KC-A7FE-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9eec79fd-cca8-4d92-bda0-c4d392cfa575	d917fdbc-60b4-4913-8359-0ed1fce972f3	g.chr17:663480T>G	ENST00000301328.5	-	10	900		c.e10-2		GLOD4_ENST00000301329.6_Splice_Site|GLOD4_ENST00000575800.1_5'Flank|GLOD4_ENST00000536578.1_Splice_Site			Q9HC38	GLOD4_HUMAN	glyoxalase domain containing 4							extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)				endometrium(1)|large_intestine(1)|prostate(1)	3				UCEC - Uterine corpus endometrioid carcinoma (25;0.022)		TGCCATTGCCTGTAAAATAGA	0.383																																						ENST00000301329.6																			0				endometrium(1)|large_intestine(1)|prostate(1)	3						c.e9-2		glyoxalase domain containing 4							144	124	131					17																	663480		2203	4300	6503	SO:0001630	splice_region_variant	51031					mitochondrion		g.chr17:663480T>G	AF177342	CCDS32520.1	17p13.3	2008-02-05	2007-03-14	2007-03-14		ENSG00000167699			14111	protein-coding gene	gene with protein product			"chromosome 17 open reading frame 25"	C17orf25		11642406, 12528892	Standard	NM_016080		Approved	CGI-150, HC71	uc002fru.3	Q9HC38		ENST00000301328.5:c.877-2A>C	17.37:g.663480T>G						GLOD4_ENST00000536578.1_Splice_Site|GLOD4_ENST00000301328.5_Splice_Site		NM_016080.3	NP_057164.3	Q9HC38	GLOD4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.022)	9	917	-								D3DTG9|D3DTH1|Q96B89|Q9H3J8|Q9HC37|Q9NVN1	Splice_Site	SNP	ENST00000301328.5	37			.	.	.	.	.	.	.	.	.	.	T	19.80	3.895077	0.72639	.	.	ENSG00000167699	ENST00000301329;ENST00000397393;ENST00000301328;ENST00000536578	.	.	.	6.02	6.02	0.97574	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.7258	0.77756	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	GLOD4	610230	1.000000	0.71417	0.990000	0.47175	0.838000	0.47535	7.708000	0.84633	2.311000	0.77944	0.533000	0.62120	.		0.383	GLOD4-005	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000437190.1	NM_016080	Intron	4	57	0	0	0	1	0	4	57					G	663480	T	G	663480	5	3	304	1	0	0	0	0	0	0	1	0	6450	1594	55	5	70	5	GLOD4	17	663480	Splice_Site	SNP	T	TCGA-KC-A7FE-01A-12D-A33T-08		663480	80531730	13	14513											
TEKT3	64518	broad.mit.edu	37	chr17	15207272	15207272	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctagcagaagccgaccagcCggagggtgttggggtagctc	8	6	16	11	2	0	1	0	0	0	1	1	3	0	2	4	4	4	4	4	4	3	3			TCGA-KC-A7FE-01A-12D-A33T-08	TCGA-KC-A7FE-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9eec79fd-cca8-4d92-bda0-c4d392cfa575	d917fdbc-60b4-4913-8359-0ed1fce972f3	g.chr17:15207272C>T	ENST00000395930.1	-	9	1640	c.1454G>A	c.(1453-1455)cGg>cAg	p.R485Q	TEKT3_ENST00000338696.2_Missense_Mutation_p.R485Q|TEKT3_ENST00000462175.1_5'UTR	NM_031898.2	NP_114104.1	Q9BXF9	TEKT3_HUMAN	tektin 3	485					cilium morphogenesis (GO:0060271)|regulation of fertilization (GO:0080154)|sperm motility (GO:0030317)	acrosomal membrane (GO:0002080)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|nucleus (GO:0005634)|sperm flagellum (GO:0036126)				endometrium(1)|kidney(3)|large_intestine(5)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	23				UCEC - Uterine corpus endometrioid carcinoma (92;0.0877)		GCCGACCAGCCGGAGGGTGTT	0.532																																						ENST00000395930.1																			0				endometrium(1)|kidney(3)|large_intestine(5)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	23						c.(1453-1455)cGg>cAg		tektin 3							106	93	97					17																	15207272		2203	4300	6503	SO:0001583	missense	64518				microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule		g.chr17:15207272C>T	AF334676	CCDS11169.1	17p12	2011-05-23			ENSG00000125409	ENSG00000125409			14293	protein-coding gene	gene with protein product		612683				11381029, 14735490	Standard	NM_031898		Approved	FLJ32828	uc002gon.3	Q9BXF9	OTTHUMG00000058965	ENST00000395930.1:c.1454G>A	17.37:g.15207272C>T	ENSP00000379263:p.Arg485Gln					TEKT3_ENST00000338696.2_Missense_Mutation_p.R485Q|TEKT3_ENST00000462175.1_5'UTR	p.R485Q	NM_031898.2	NP_114104.1	Q9BXF9	TEKT3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.0877)	9	1640	-			485					B2RAS7|D3DTT0|Q8N5R5|Q96M48	Missense_Mutation	SNP	ENST00000395930.1	37	c.1454G>A	CCDS11169.1	.	.	.	.	.	.	.	.	.	.	C	15.48	2.846160	0.51164	.	.	ENSG00000125409	ENST00000395930;ENST00000338696	T;T	0.02944	4.1;4.1	5.36	5.36	0.76844	.	0.000000	0.85682	D	0.000000	T	0.04363	0.0120	L	0.60957	1.885	0.38308	D	0.943179	P	0.49090	0.919	B	0.40534	0.332	T	0.39165	-0.9627	10	0.46703	T	0.11	-3.111	10.9563	0.47360	0.0:0.8547:0.0:0.1453	.	485	Q9BXF9	TEKT3_HUMAN	Q	485	ENSP00000379263:R485Q;ENSP00000343995:R485Q	ENSP00000343995:R485Q	R	-	2	0	TEKT3	15147997	0.998000	0.40836	0.907000	0.35723	0.974000	0.67602	5.656000	0.67988	2.680000	0.91292	0.561000	0.74099	CGG		0.532	TEKT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130385.2	NM_031898		3	43	0	0	0	1	0	3	43					T	15207272	C	T	15207272	3	4	304	1	0	0	0	0	1	0	0	0	15751	652	23	2	22	2	TEKT3	17	15207272	Missense_Mutation	SNP	C	TCGA-KC-A7FE-01A-12D-A33T-08	14543792	15207272	65987938	14	14514											
METTL4	64863	broad.mit.edu	37	chr18	2539121	2539121	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ctccaaatattccccatctgGcttgatgtagtcttttaaaa	11	15	5	10	0	2	1	0	1	2	0	4	1	4	1	3	1	0	2	3	1	5	6			TCGA-KC-A7FE-01A-12D-A33T-08	TCGA-KC-A7FE-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9eec79fd-cca8-4d92-bda0-c4d392cfa575	d917fdbc-60b4-4913-8359-0ed1fce972f3	g.chr18:2539121G>C	ENST00000574538.1	-	9	2072	c.1297C>G	c.(1297-1299)Cca>Gca	p.P433A	METTL4_ENST00000319888.6_Missense_Mutation_p.A402G	NM_022840.3	NP_073751.3	Q8N3J2	METL4_HUMAN	methyltransferase like 4	433					nucleobase-containing compound metabolic process (GO:0006139)		methyltransferase activity (GO:0008168)|nucleic acid binding (GO:0003676)			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	17						TCCCCATCTGGCTTGATGTAG	0.343																																						ENST00000319888.6																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	17						c.(1204-1206)gCc>gGc		methyltransferase like 4							82	84	83					18																	2539121		2203	4300	6503	SO:0001583	missense	64863				nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		methyltransferase activity|nucleic acid binding	g.chr18:2539121G>C		CCDS11826.1	18p11.31	2008-02-05			ENSG00000101574	ENSG00000101574			24726	protein-coding gene	gene with protein product						12477932	Standard	NM_022840		Approved	FLJ23017, HsT661	uc002klh.4	Q8N3J2	OTTHUMG00000131482	ENST00000574538.1:c.1297C>G	18.37:g.2539121G>C	ENSP00000458290:p.Pro433Ala					METTL4_ENST00000574538.1_Missense_Mutation_p.P433A	p.A402G			Q8N3J2	METL4_HUMAN			8	2003	-			0					B2RNA1|Q2TAA7|Q9H5U9	Missense_Mutation	SNP	ENST00000574538.1	37	c.1205C>G	CCDS11826.1	.	.	.	.	.	.	.	.	.	.	G	11.65	1.701214	0.30142	.	.	ENSG00000101574	ENST00000319888	.	.	.	5.19	5.19	0.71726	.	0.136296	0.48767	D	0.000167	T	0.55816	0.1944	L	0.53729	1.69	0.39665	D	0.970667	P	0.40282	0.711	B	0.37346	0.247	T	0.62431	-0.6856	9	0.49607	T	0.09	-2.4773	18.6936	0.91592	0.0:0.0:1.0:0.0	.	433	Q8N3J2	METL4_HUMAN	A	433	.	ENSP00000320349:P433A	P	-	1	0	METTL4	2529121	1.000000	0.71417	0.938000	0.37757	0.845000	0.48019	3.511000	0.53400	2.409000	0.81822	0.655000	0.94253	CCA		0.343	METTL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254326.3	NM_022840		7	74	0	0	0	1	0	7	74					C	2539121	G	C	2539121	3	2	304	1	0	0	0	0	1	0	0	0	9502	1203	42	5	125	5	METTL4	18	2539121	Missense_Mutation	SNP	G	TCGA-KC-A7FE-01A-12D-A33T-08		2539121	75538127	15	14515											
CYP4F11	57834	broad.mit.edu	37	chr19	16040304	16040304	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ggccggataatgtcagggtgGcataaaatgaggagggggaa	13	6	18	4	1	1	1	1	1	0	0	1	4	1	4	1	7	0	1	1	7	4	2			TCGA-KC-A7FE-01A-12D-A33T-08	TCGA-KC-A7FE-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9eec79fd-cca8-4d92-bda0-c4d392cfa575	d917fdbc-60b4-4913-8359-0ed1fce972f3	g.chr19:16040304G>A	ENST00000402119.4	-	2	732	c.306C>T	c.(304-306)tgC>tgT	p.C102C	CYP4F11_ENST00000248041.8_Silent_p.C102C|CYP4F11_ENST00000326742.8_Silent_p.C102C|CYP4F11_ENST00000591841.1_5'Flank	NM_021187.3	NP_067010.3			cytochrome P450, family 4, subfamily F, polypeptide 11											NS(1)|breast(3)|endometrium(4)|large_intestine(2)|lung(11)|ovary(1)|skin(3)	25						TGTCAGGGTGGCATAAAATGA	0.562																																						ENST00000326742.7																			0				NS(1)|breast(3)|endometrium(4)|large_intestine(2)|lung(11)|ovary(1)|skin(3)	25						c.(304-306)tgC>tgT		cytochrome P450, family 4, subfamily F, polypeptide 11							153	154	154					19																	16040304		2203	4300	6503	SO:0001819	synonymous_variant	57834				inflammatory response|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding	g.chr19:16040304G>A	AF236085	CCDS12337.1	19p13.1	2011-07-29	2003-01-14		ENSG00000171903	ENSG00000171903		"Cytochrome P450s"	13265	protein-coding gene	gene with protein product		611517	"cytochrome P450, subfamily IVF, polypeptide 11"			10964514, 9068972	Standard	NM_021187		Approved		uc002nbu.2	Q9HBI6		ENST00000402119.4:c.306C>T	19.37:g.16040304G>A						CYP4F11_ENST00000402119.3_Silent_p.C102C|CYP4F11_ENST00000248041.7_Silent_p.C102C	p.C102C			Q9HBI6	CP4FB_HUMAN			2	307	-			102						Silent	SNP	ENST00000402119.4	37	c.306C>T	CCDS12337.1																																																																																				0.562	CYP4F11-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460385.2	NM_021187		4	175	0	0	0	1	0	4	175					A	16040304	G	A	16040304	2	1	304	1	0	0	0	0	0	0	0	1	4186	1195	42	3		3	CYP4F11	19	16040304	Silent	SNP	G	TCGA-KC-A7FE-01A-12D-A33T-08		16040304	43088679	16	14516											
ARHGAP6	395	broad.mit.edu	37	chrX	11157492	11157493	+	Frame_Shift_Ins	INS	-	-	G																															tgggccctgccctccgtcgcINSgggggctgcggcctgagtcc																										TCGA-KC-A7FE-01A-12D-A33T-08	TCGA-KC-A7FE-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9eec79fd-cca8-4d92-bda0-c4d392cfa575	d917fdbc-60b4-4913-8359-0ed1fce972f3	g.chrX:11157492_11157493insG	ENST00000337414.4	-	13	3287_3288	c.2415_2416insC	c.(2413-2418)cccgcgfs	p.A806fs	ARHGAP6_ENST00000303025.6_Frame_Shift_Ins_p.A603fs|ARHGAP6_ENST00000534860.1_Intron|ARHGAP6_ENST00000380736.1_Frame_Shift_Ins_p.A603fs	NM_013427.2	NP_038286.2	O43182	RHG06_HUMAN	Rho GTPase activating protein 6	806					actin filament polymerization (GO:0030041)|activation of phospholipase C activity (GO:0007202)|focal adhesion assembly (GO:0048041)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of stress fiber assembly (GO:0051497)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of signal transduction (GO:0009967)|regulation of GTPase activity (GO:0043087)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|cytoplasm (GO:0005737)|cytosol (GO:0005829)	phospholipase activator activity (GO:0016004)|phospholipase binding (GO:0043274)|Rho GTPase activator activity (GO:0005100)|SH3/SH2 adaptor activity (GO:0005070)			cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						CCCTCCGTCGCGGGGGCTGCGG	0.733																																						ENST00000337414.4																			0				cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						c.(2413-2418)cccgacfs		Rho GTPase activating protein 6																																				SO:0001589	frameshift_variant	395				actin filament polymerization|activation of phospholipase C activity|negative regulation of focal adhesion assembly|negative regulation of stress fiber assembly|Rho protein signal transduction	actin filament|cytosol	phospholipase activator activity|phospholipase binding|Rho GTPase activator activity|SH3 domain binding|SH3/SH2 adaptor activity	g.chrX:11157492_11157493insG	AF012272	CCDS14140.1, CCDS14141.1, CCDS14142.1	Xp22.3	2008-02-05			ENSG00000047648	ENSG00000047648		"Rho GTPase activating proteins"	676	protein-coding gene	gene with protein product		300118				9417914	Standard	XM_005274507		Approved	rhoGAPX-1	uc004cup.1	O43182	OTTHUMG00000021134	ENST00000337414.4:c.2416dupC	X.37:g.11157497_11157497dupG	ENSP00000338967:p.Ala806fs					ARHGAP6_ENST00000534860.1_Intron|ARHGAP6_ENST00000380736.1_Frame_Shift_Ins_p.D603fs|ARHGAP6_ENST00000303025.6_Frame_Shift_Ins_p.D603fs	p.D806fs	NM_013427.2	NP_038286.2	O43182	RHG06_HUMAN			13	3287_3288	-			806					B2RWQ0|O43437|Q9P1B3|Q9UK81|Q9UK82	Frame_Shift_Ins	INS	ENST00000337414.4	37	c.2415_2416insC	CCDS14140.1																																																																																				0.733	ARHGAP6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055760.2	NM_013427		2	4						2	4	---	---	---	---	G	11157493	-	G	11157492	7	5	304	1	0	1	1	0	0	0	0	0	887	768	27	0	512	0	ARHGAP6	23	11157492	Frame_Shift_Ins	INS	-	TCGA-KC-A7FE-01A-12D-A33T-08		11157492	144113068	17	14517											
PLEKHN1	84069	broad.mit.edu	37	chr1	909722	909722	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgccagggaaggttcgccCgaaccctggctgcctctgac	6	8	12	15	2	2	1	0	1	2	0	3	3	2	2	4	3	3	2	4	3	2	1			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:909722C>T	ENST00000379409.2	+	14	1866	c.1836C>T	c.(1834-1836)ccC>ccT	p.P612P	PLEKHN1_ENST00000379407.3_Silent_p.P525P|PLEKHN1_ENST00000379410.3_Silent_p.P560P			Q494U1	PKHN1_HUMAN	pleckstrin homology domain containing, family N member 1	612				P -> S (in Ref. 4; AAI01388). {ECO:0000305}.						central_nervous_system(1)|endometrium(3)|kidney(1)|lung(2)|skin(1)|urinary_tract(1)	9	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.93e-23)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.00095)|Kidney(185;0.0023)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.199)		AAGGTTCGCCCGAACCCTGGC	0.627																																						ENST00000379409.2																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|lung(2)|skin(1)|urinary_tract(1)	9						c.(1834-1836)ccC>ccT		pleckstrin homology domain containing, family N member 1							74	83	80					1																	909722		2203	4300	6503	SO:0001819	synonymous_variant	84069							g.chr1:909722C>T	AL136730	CCDS4.1, CCDS53256.1	1p36.33	2013-01-11			ENSG00000187583	ENSG00000187583		"Pleckstrin homology (PH) domain containing"	25284	protein-coding gene	gene with protein product						11230166	Standard	NM_032129		Approved	DKFZP434H2010	uc001acd.3	Q494U1	OTTHUMG00000040756	ENST00000379409.2:c.1836C>T	1.37:g.909722C>T						PLEKHN1_ENST00000379407.2_Silent_p.P525P|PLEKHN1_ENST00000379410.3_Silent_p.P560P	p.P612P			Q494U1	PKHN1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.93e-23)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.00095)|Kidney(185;0.0023)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.199)	14	1866	+	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)	612	P -> S (in Ref. 4; AAI01388).				Q494U2|Q5SV98|Q9H0M7	Silent	SNP	ENST00000379409.2	37	c.1836C>T																																																																																					0.627	PLEKHN1-005	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000473256.1	NM_032129		20	109	0	0	0	1	0	20	109					T	909722	C	T	909722	2	4	305	1	0	0	0	0	0	0	0	1	12083	639	23	2		2	PLEKHN1	1	909722	Silent	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08		909722	248340899	1	14518											
TNFRSF18	8784	broad.mit.edu	37	chr1	1140762	1140762	+	Frame_Shift_Del	DEL	C	C	-																															ggacttaccctgggactgtaCcccctggcctgggggacaag																										TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:1140762delC	ENST00000379268.2	-	2	417	c.298delG	c.(298-300)gtafs	p.V100fs	TNFRSF18_ENST00000486728.1_Frame_Shift_Del_p.V28fs|TNFRSF18_ENST00000379265.5_Frame_Shift_Del_p.V100fs|TNFRSF18_ENST00000328596.6_Frame_Shift_Del_p.V100fs	NM_004195.2|NM_148902.1	NP_004186.1|NP_683700.1	Q9Y5U5	TNR18_HUMAN	tumor necrosis factor receptor superfamily, member 18	100					apoptotic process (GO:0006915)|negative regulation of apoptotic process (GO:0043066)|signal transduction (GO:0007165)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	tumor necrosis factor-activated receptor activity (GO:0005031)			lung(1)	1	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;3.73e-36)|OV - Ovarian serous cystadenocarcinoma(86;1.01e-21)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;4.22e-05)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		TGGGACTGTACCCCCTGGCCT	0.657																																					GBM(157;472 1934 13810 14591 35952)	ENST00000379268.2																			0				lung(1)	1						c.(298-300)tafs		tumor necrosis factor receptor superfamily, member 18			,,	18,4232		8,2,2115	42	38	39		,,	-7.1	0	1		39	32,8202		15,2,4100	no	frameshift,frameshift,frameshift	TNFRSF18	NM_148902.1,NM_148901.1,NM_004195.2	,,	23,4,6215	A1A1,A1R,RR		0.3886,0.4235,0.4005	,,	,,	1140762	50,12434	2195	4290	6485	SO:0001589	frameshift_variant	8784				anti-apoptosis|apoptosis	extracellular region|integral to plasma membrane	tumor necrosis factor receptor activity	g.chr1:1140762delC	AF125304	CCDS9.1, CCDS10.1, CCDS30552.1	1p36.3	2011-08-11			ENSG00000186891	ENSG00000186891		"Tumor necrosis factor receptor superfamily", "CD molecules"	11914	protein-coding gene	gene with protein product		603905				9177197, 10037686	Standard	NM_004195		Approved	AITR, GITR, CD357	uc001add.3	Q9Y5U5	OTTHUMG00000001414	ENST00000379268.2:c.298delG	1.37:g.1140762delC	ENSP00000368570:p.Val100fs					TNFRSF18_ENST00000486728.1_Frame_Shift_Del_p.V28fs|TNFRSF18_ENST00000379265.5_Frame_Shift_Del_p.V100fs|TNFRSF18_ENST00000328596.6_Frame_Shift_Del_p.V100fs	p.V100fs	NM_004195.2|NM_148902.1	NP_004186.1|NP_683700.1	Q9Y5U5	TNR18_HUMAN		Epithelial(90;3.73e-36)|OV - Ovarian serous cystadenocarcinoma(86;1.01e-21)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;4.22e-05)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)	2	417	-	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)	100					B1AME1|O95851|Q5U0I4|Q9NYJ9	Frame_Shift_Del	DEL	ENST00000379268.2	37	c.298delG	CCDS10.1																																																																																				0.657	TNFRSF18-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000004083.2	NM_004195		9	26						9	26	---	---	---	---	-	1140762	C	-	1140762	7	5	305	1	0	1	0	1	0	0	0	0	16288	507	18	0	696	0	TNFRSF18	1	1140762	Frame_Shift_Del	DEL	C	TCGA-KK-A59V-01A-11D-A29Q-08	231040	1140762	248109859	2	14519											
TNFRSF4	7293	broad.mit.edu	37	chr1	1147441	1147441	+	Frame_Shift_Del	DEL	G	G	-																															tctcctggggctgcgtggctGgggggtccctgtcctcacag																										TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:1147441delG	ENST00000379236.3	-	5	519	c.515delC	c.(514-516)ccafs	p.P172fs	TNFRSF4_ENST00000453580.1_5'UTR	NM_003327.3	NP_003318.1	P43489	TNR4_HUMAN	tumor necrosis factor receptor superfamily, member 4	172					cellular defense response (GO:0006968)|immune response (GO:0006955)|inflammatory response (GO:0006954)|negative regulation of cytokine secretion (GO:0050710)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of immunoglobulin secretion (GO:0051024)|regulation of apoptotic process (GO:0042981)|regulation of protein kinase activity (GO:0045859)|T cell proliferation (GO:0042098)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)	tumor necrosis factor-activated receptor activity (GO:0005031)			large_intestine(1)|lung(2)|urinary_tract(1)	4	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;3.73e-36)|OV - Ovarian serous cystadenocarcinoma(86;1.01e-21)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;4.22e-05)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		CTGCGTGGCTGGGGGGTCCCT	0.677																																						ENST00000379236.3																			0				large_intestine(1)|lung(2)|urinary_tract(1)	4						c.(514-516)cafs		tumor necrosis factor receptor superfamily, member 4							23	25	24					1																	1147441		2201	4293	6494	SO:0001589	frameshift_variant	7293				immune response|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|positive regulation of B cell proliferation|positive regulation of immunoglobulin secretion|T cell proliferation	integral to plasma membrane	tumor necrosis factor receptor activity	g.chr1:1147441delG	X75962	CCDS11.1	1p36	2008-02-05			ENSG00000186827	ENSG00000186827		"Tumor necrosis factor receptor superfamily", "CD molecules"	11918	protein-coding gene	gene with protein product		600315		TXGP1L		7510240, 2828930	Standard	NM_003327		Approved	ACT35, OX40, CD134	uc001ade.3	P43489	OTTHUMG00000001415	ENST00000379236.3:c.515delC	1.37:g.1147441delG	ENSP00000368538:p.Pro172fs					TNFRSF4_ENST00000453580.1_5'UTR	p.P172fs	NM_003327.3	NP_003318.1	P43489	TNR4_HUMAN		Epithelial(90;3.73e-36)|OV - Ovarian serous cystadenocarcinoma(86;1.01e-21)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;4.22e-05)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)	5	519	-	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)	172					Q13663|Q2M312|Q5T7M0	Frame_Shift_Del	DEL	ENST00000379236.3	37	c.515delC	CCDS11.1																																																																																				0.677	TNFRSF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004086.1			12	34						12	34	---	---	---	---	-	1147441	G	-	1147441	7	5	305	1	0	1	0	1	0	0	0	0	16294	1348	47	0	330	0	TNFRSF4	1	1147441	Frame_Shift_Del	DEL	G	TCGA-KK-A59V-01A-11D-A29Q-08	6679	1147441	248103180	3	14520											
GNB1	2782	broad.mit.edu	37	chr1	1720558	1720558	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtcgtacccagcaaggaggaGgcgcccgctcttggagaagg	9	5	16	11	3	1	1	0	0	1	1	2	4	1	3	2	5	2	3	2	5	3	2			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:1720558G>T	ENST00000378609.4	-	10	1181	c.850C>A	c.(850-852)Ctc>Atc	p.L284I		NM_001282539.1|NM_002074.3	NP_001269468.1|NP_002065.1	P62873	GBB1_HUMAN	guanine nucleotide binding protein (G protein), beta polypeptide 1	284					adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|blood coagulation (GO:0007596)|cellular response to catecholamine stimulus (GO:0071870)|cellular response to glucagon stimulus (GO:0071377)|cellular response to prostaglandin E stimulus (GO:0071380)|energy reserve metabolic process (GO:0006112)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|GTP catabolic process (GO:0006184)|phototransduction, visible light (GO:0007603)|platelet activation (GO:0030168)|Ras protein signal transduction (GO:0007265)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|intracellular (GO:0005622)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|photoreceptor disc membrane (GO:0097381)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	GTPase activity (GO:0003924)|GTPase binding (GO:0051020)|protein complex binding (GO:0032403)|signal transducer activity (GO:0004871)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	12	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;5.62e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;1.14e-35)|OV - Ovarian serous cystadenocarcinoma(86;7.31e-23)|GBM - Glioblastoma multiforme(42;3.1e-07)|COAD - Colon adenocarcinoma(227;0.000323)|Colorectal(212;0.000374)|Kidney(185;0.00392)|BRCA - Breast invasive adenocarcinoma(365;0.00573)|STAD - Stomach adenocarcinoma(132;0.0072)|KIRC - Kidney renal clear cell carcinoma(229;0.0482)|Lung(427;0.236)		GCAAGGAGGAGGCGCCCGCTC	0.577											OREG0012998	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000378609.4																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	12						c.(850-852)Ctc>Atc		guanine nucleotide binding protein (G protein), beta polypeptide 1							99	93	95					1																	1720558		2203	4300	6503	SO:0001583	missense	2782				cellular response to glucagon stimulus|energy reserve metabolic process|muscarinic acetylcholine receptor signaling pathway|platelet activation|Ras protein signal transduction|synaptic transmission	heterotrimeric G-protein complex	GTPase activity|GTPase binding|signal transducer activity	g.chr1:1720558G>T	BC004186	CCDS34.1, CCDS72685.1	1p36.33	2013-01-10			ENSG00000078369	ENSG00000078369		"WD repeat domain containing"	4396	protein-coding gene	gene with protein product		139380					Standard	NM_002074		Approved		uc001aif.3	P62873	OTTHUMG00000000940	ENST00000378609.4:c.850C>A	1.37:g.1720558G>T	ENSP00000367872:p.Leu284Ile		OREG0012998	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	598		p.L284I	NM_002074.3	NP_002065.1	P62873	GBB1_HUMAN		Epithelial(90;1.14e-35)|OV - Ovarian serous cystadenocarcinoma(86;7.31e-23)|GBM - Glioblastoma multiforme(42;3.1e-07)|COAD - Colon adenocarcinoma(227;0.000323)|Colorectal(212;0.000374)|Kidney(185;0.00392)|BRCA - Breast invasive adenocarcinoma(365;0.00573)|STAD - Stomach adenocarcinoma(132;0.0072)|KIRC - Kidney renal clear cell carcinoma(229;0.0482)|Lung(427;0.236)	10	1181	-	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;5.62e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)	284					B1AJZ7|P04697|P04901|Q1RMY8	Missense_Mutation	SNP	ENST00000378609.4	37	c.850C>A	CCDS34.1	.	.	.	.	.	.	.	.	.	.	G	31	5.098768	0.94197	.	.	ENSG00000078369	ENST00000378609;ENST00000455156;ENST00000378606	T	0.61742	0.08	5.52	5.52	0.82312	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.71451	0.3341	L	0.48935	1.535	0.80722	D	1	P	0.37663	0.604	P	0.59948	0.866	T	0.66460	-0.5918	10	0.35671	T	0.21	-9.8798	18.4248	0.90605	0.0:0.0:1.0:0.0	.	284	P62873	GBB1_HUMAN	I	284;184;284	ENSP00000367872:L284I	ENSP00000367869:L284I	L	-	1	0	GNB1	1710418	1.000000	0.71417	1.000000	0.80357	0.921000	0.55340	6.549000	0.73900	2.594000	0.87642	0.655000	0.94253	CTC		0.577	GNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000002762.3	NM_002074		14	47	1	0	1.49906e-05	1	1.53742e-05	14	47					T	1720558	G	T	1720558	3	4	305	1	0	0	0	0	1	0	0	0	6515	1000	35	5	180	5	GNB1	1	1720558	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	573117	1720558	247530063	4	14521											
AJAP1	55966	broad.mit.edu	37	chr1	4772604	4772604	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caccaccaccaccaccaccaCggccacccccatgacgctgc	10	2	5	24	2	0	1	0	1	0	0	0	1	0	1	9	1	1	1	9	1	0	0			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:4772604C>T	ENST00000378191.4	+	2	1055	c.674C>T	c.(673-675)aCg>aTg	p.T225M	AJAP1_ENST00000378190.3_Missense_Mutation_p.T225M	NM_018836.3	NP_061324.1	Q9UKB5	AJAP1_HUMAN	adherens junctions associated protein 1	225	Thr-rich.				cell adhesion (GO:0007155)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|urinary_tract(1)	24	all_cancers(77;0.071)|Ovarian(185;0.0721)	all_cancers(23;1.77e-36)|all_epithelial(116;1.26e-21)|all_lung(118;3.51e-08)|Lung NSC(185;3.47e-06)|all_neural(13;8.84e-06)|all_hematologic(16;7.61e-05)|Breast(487;0.000507)|Renal(390;0.0007)|Colorectal(325;0.00117)|Hepatocellular(190;0.0071)|Glioma(11;0.0155)|Myeloproliferative disorder(586;0.0258)|Ovarian(437;0.0409)|Lung SC(97;0.133)|Medulloblastoma(700;0.215)		Epithelial(90;3.89e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.97e-19)|GBM - Glioblastoma multiforme(42;3.71e-19)|Colorectal(212;4.57e-06)|COAD - Colon adenocarcinoma(227;0.00019)|Kidney(185;0.000969)|BRCA - Breast invasive adenocarcinoma(365;0.00122)|STAD - Stomach adenocarcinoma(132;0.00578)|KIRC - Kidney renal clear cell carcinoma(229;0.0126)|READ - Rectum adenocarcinoma(331;0.0689)		accaccaccacggccaccccc	0.612																																						ENST00000378191.4																			0				endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|urinary_tract(1)	24						c.(673-675)aCg>aTg		adherens junctions associated protein 1							32	32	32					1																	4772604		2203	4299	6502	SO:0001583	missense	55966				cell adhesion	adherens junction|apical plasma membrane|basolateral plasma membrane|integral to membrane		g.chr1:4772604C>T	AF175409	CCDS54.1	1p36.32	2008-02-05	2008-01-08		ENSG00000196581	ENSG00000196581			30801	protein-coding gene	gene with protein product	"transmembrane protein SHREW1"	610972				14595118	Standard	NM_001042478		Approved	SHREW1, SHREW-1, MOT8	uc001aln.3	Q9UKB5	OTTHUMG00000000645	ENST00000378191.4:c.674C>T	1.37:g.4772604C>T	ENSP00000367433:p.Thr225Met					AJAP1_ENST00000378190.3_Missense_Mutation_p.T225M	p.T225M	NM_018836.3	NP_061324.1	Q9UKB5	AJAP1_HUMAN		Epithelial(90;3.89e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.97e-19)|GBM - Glioblastoma multiforme(42;3.71e-19)|Colorectal(212;4.57e-06)|COAD - Colon adenocarcinoma(227;0.00019)|Kidney(185;0.000969)|BRCA - Breast invasive adenocarcinoma(365;0.00122)|STAD - Stomach adenocarcinoma(132;0.00578)|KIRC - Kidney renal clear cell carcinoma(229;0.0126)|READ - Rectum adenocarcinoma(331;0.0689)	2	1055	+	all_cancers(77;0.071)|Ovarian(185;0.0721)	all_cancers(23;1.77e-36)|all_epithelial(116;1.26e-21)|all_lung(118;3.51e-08)|Lung NSC(185;3.47e-06)|all_neural(13;8.84e-06)|all_hematologic(16;7.61e-05)|Breast(487;0.000507)|Renal(390;0.0007)|Colorectal(325;0.00117)|Hepatocellular(190;0.0071)|Glioma(11;0.0155)|Myeloproliferative disorder(586;0.0258)|Ovarian(437;0.0409)|Lung SC(97;0.133)|Medulloblastoma(700;0.215)	225			Thr-rich.		Q9Y229	Missense_Mutation	SNP	ENST00000378191.4	37	c.674C>T	CCDS54.1	.	.	.	.	.	.	.	.	.	.	C	11.98	1.800794	0.31869	.	.	ENSG00000196581	ENST00000378190;ENST00000378191	T;T	0.44482	0.92;0.92	5.35	0.979	0.19745	.	0.860025	0.09946	N	0.735301	T	0.23532	0.0569	N	0.24115	0.695	0.27814	N	0.942035	P	0.41345	0.746	B	0.34180	0.177	T	0.11767	-1.0574	10	0.45353	T	0.12	0.5229	5.7529	0.18156	0.0:0.5661:0.1574:0.2765	.	225	Q9UKB5	AJAP1_HUMAN	M	225	ENSP00000367432:T225M;ENSP00000367433:T225M	ENSP00000367432:T225M	T	+	2	0	AJAP1	4672464	0.994000	0.37717	0.441000	0.26858	0.916000	0.54674	0.557000	0.23454	0.249000	0.21456	0.467000	0.42956	ACG		0.612	AJAP1-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001542.3	NM_018836		17	35	0	0	0	1	0	17	35					T	4772604	C	T	4772604	3	4	305	1	0	0	0	0	1	0	0	0	438	536	19	1	680	1	AJAP1	1	4772604	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	3052046	4772604	244478017	5	14522											
CHD5	26038	broad.mit.edu	37	chr1	6181216	6181216	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cttctccgtctcctctggccGctcctctcgggctctctcct	0	14	7	20	3	5	0	0	0	5	0	11	0	7	0	5	2	0	2	5	2	0	1			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:6181216G>A	ENST00000262450.3	-	33	4960	c.4861C>T	c.(4861-4863)Cgg>Tgg	p.R1621W	CHD5_ENST00000378021.1_Missense_Mutation_p.R478W	NM_015557.2	NP_056372.1	O00258	WRB_HUMAN	chromodomain helicase DNA binding protein 5	0					tail-anchored membrane protein insertion into ER membrane (GO:0071816)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)				breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		TCCTCTGGCCGCTCCTCTCGG	0.662																																						ENST00000262450.3																			0				breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16						c.(4861-4863)Cgg>Tgg		chromodomain helicase DNA binding protein 5							41	45	44					1																	6181216		2203	4300	6503	SO:0001583	missense	26038				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding	g.chr1:6181216G>A	AF425231	CCDS57.1	1p36.3	2013-01-28			ENSG00000116254	ENSG00000116254		"Zinc fingers, PHD-type"	16816	protein-coding gene	gene with protein product		610771				11889561, 12592387	Standard	NM_015557		Approved		uc001amb.2	Q8TDI0	OTTHUMG00000000952	ENST00000262450.3:c.4861C>T	1.37:g.6181216G>A	ENSP00000262450:p.Arg1621Trp					CHD5_ENST00000378021.1_Missense_Mutation_p.R478W	p.R1621W	NM_015557.2	NP_056372.1	Q8TDI0	CHD5_HUMAN		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)	33	4960	-	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)	1621					A8KAP8|A8MQ44|D3DSH9|O60740	Missense_Mutation	SNP	ENST00000262450.3	37	c.4861C>T	CCDS57.1	.	.	.	.	.	.	.	.	.	.	g	17.19	3.326099	0.60743	.	.	ENSG00000116254	ENST00000262450;ENST00000378006;ENST00000378021;ENST00000536802;ENST00000538279;ENST00000377999	D;T	0.90844	-2.74;2.2	4.53	2.14	0.27477	.	1.082140	0.07360	U	0.883953	D	0.85155	0.5632	N	0.19112	0.55	0.24058	N	0.996027	D;D	0.64830	0.963;0.994	B;P	0.47376	0.183;0.545	T	0.76162	-0.3060	10	0.72032	D	0.01	-9.1763	5.6044	0.17371	0.1057:0.0:0.3777:0.5166	.	1621;478	Q8TDI0;Q5TG85	CHD5_HUMAN;.	W	1621;1137;478;1029;1029;478	ENSP00000262450:R1621W;ENSP00000367260:R478W	ENSP00000262450:R1621W	R	-	1	2	CHD5	6103803	0.965000	0.33210	0.959000	0.39883	0.954000	0.61252	1.912000	0.39946	0.960000	0.38005	0.472000	0.43445	CGG		0.662	CHD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000002823.2	NM_015557		8	27	0	0	0	1	0	8	27					A	6181216	G	A	6181216	3	1	305	1	0	0	0	0	1	0	0	0	3328	1086	38	1	1039	1	CHD5	1	6181216	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	1408612	6181216	243069405	6	14523											
ICMT	23463	broad.mit.edu	37	chr1	6285255	6285255	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agatttcttcttcttctgttCgatcgcggaagaatcgccac	8	14	8	11	4	4	2	0	0	4	2	7	4	4	3	1	1	0	1	1	1	2	5			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:6285255C>T	ENST00000343813.5	-	5	768	c.740G>A	c.(739-741)cGa>cAa	p.R247Q	ICMT_ENST00000495791.1_5'Flank	NM_012405.3	NP_036537.1	O60725	ICMT_HUMAN	isoprenylcysteine carboxyl methyltransferase	247					C-terminal protein methylation (GO:0006481)|cellular protein modification process (GO:0006464)|in utero embryonic development (GO:0001701)|liver development (GO:0001889)|multicellular organism growth (GO:0035264)|positive regulation of cell proliferation (GO:0008284)|protein targeting to membrane (GO:0006612)|regulation of Ras protein signal transduction (GO:0046578)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	cAMP response element binding protein binding (GO:0008140)|protein C-terminal carboxyl O-methyltransferase activity (GO:0003880)|protein C-terminal S-isoprenylcysteine carboxyl O-methyltransferase activity (GO:0004671)			NS(1)|endometrium(2)	3	Ovarian(185;0.0634)	all_cancers(23;5.85e-39)|all_epithelial(116;2.4e-22)|all_lung(118;2.65e-08)|Lung NSC(185;6.45e-07)|all_neural(13;3.18e-06)|all_hematologic(16;8.99e-06)|Acute lymphoblastic leukemia(12;0.000365)|Breast(487;0.000688)|Renal(390;0.0007)|Colorectal(325;0.00104)|Glioma(11;0.00203)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0392)|Medulloblastoma(700;0.211)		Epithelial(90;5.52e-38)|GBM - Glioblastoma multiforme(13;6.51e-32)|OV - Ovarian serous cystadenocarcinoma(86;3.03e-19)|Colorectal(212;7.08e-08)|COAD - Colon adenocarcinoma(227;8.35e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|BRCA - Breast invasive adenocarcinoma(365;0.00109)|STAD - Stomach adenocarcinoma(132;0.00313)|READ - Rectum adenocarcinoma(331;0.0642)|Lung(427;0.182)		TTCTTCTGTTCGATCGCGGAA	0.522																																						ENST00000343813.5																			0				NS(1)|endometrium(2)	3						c.(739-741)cGa>cAa		isoprenylcysteine carboxyl methyltransferase							89	92	91					1																	6285255		2203	4300	6503	SO:0001583	missense	23463				protein targeting to membrane	endoplasmic reticulum membrane|integral to membrane|membrane fraction	protein C-terminal S-isoprenylcysteine carboxyl O-methyltransferase activity	g.chr1:6285255C>T	AF064084	CCDS61.1	1p36	2010-04-29			ENSG00000116237	ENSG00000116237	2.1.1.100		5350	protein-coding gene	gene with protein product	"protein-S-isoprenylcysteine O-methyltransferase"	605851				9614111, 10441503	Standard	XM_005263437		Approved	PCCMT, HSTE14, PPMT	uc001amk.3	O60725	OTTHUMG00000001254	ENST00000343813.5:c.740G>A	1.37:g.6285255C>T	ENSP00000343552:p.Arg247Gln						p.R247Q	NM_012405.3	NP_036537.1	O60725	ICMT_HUMAN		Epithelial(90;5.52e-38)|GBM - Glioblastoma multiforme(13;6.51e-32)|OV - Ovarian serous cystadenocarcinoma(86;3.03e-19)|Colorectal(212;7.08e-08)|COAD - Colon adenocarcinoma(227;8.35e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|BRCA - Breast invasive adenocarcinoma(365;0.00109)|STAD - Stomach adenocarcinoma(132;0.00313)|READ - Rectum adenocarcinoma(331;0.0642)|Lung(427;0.182)	5	768	-	Ovarian(185;0.0634)	all_cancers(23;5.85e-39)|all_epithelial(116;2.4e-22)|all_lung(118;2.65e-08)|Lung NSC(185;6.45e-07)|all_neural(13;3.18e-06)|all_hematologic(16;8.99e-06)|Acute lymphoblastic leukemia(12;0.000365)|Breast(487;0.000688)|Renal(390;0.0007)|Colorectal(325;0.00104)|Glioma(11;0.00203)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0392)|Medulloblastoma(700;0.211)	247					Q6FHT0	Missense_Mutation	SNP	ENST00000343813.5	37	c.740G>A	CCDS61.1	.	.	.	.	.	.	.	.	.	.	C	36	5.632857	0.96682	.	.	ENSG00000116237	ENST00000343813;ENST00000535068	.	.	.	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	D	0.85902	0.5805	M	0.90814	3.15	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.87797	0.2622	9	0.72032	D	0.01	.	19.1066	0.93299	0.0:1.0:0.0:0.0	.	247	O60725	ICMT_HUMAN	Q	247;151	.	ENSP00000343552:R247Q	R	-	2	0	ICMT	6207842	1.000000	0.71417	0.309000	0.25155	0.906000	0.53458	7.235000	0.78143	2.769000	0.95229	0.655000	0.94253	CGA		0.522	ICMT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000003681.1	NM_012405		27	99	0	0	0	1	0	27	99					T	6285255	C	T	6285255	3	4	305	1	0	0	0	0	1	0	0	0	7485	884	31	2	118	2	ICMT	1	6285255	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	104039	6285255	242965366	7	14524											
GPR153	387509	broad.mit.edu	37	chr1	6314755	6314755	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcgaagtcggggcgctgccGccgcagctgcaccacggagt	6	5	15	15	6	0	0	0	0	0	0	2	2	0	1	3	3	3	4	3	3	1	0			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:6314755G>A	ENST00000377893.2	-	2	470	c.211C>T	c.(211-213)Cgg>Tgg	p.R71W		NM_207370.2	NP_997253.2	Q6NV75	GP153_HUMAN	G protein-coupled receptor 153	71						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|liver(1)|lung(7)|skin(1)	14	Ovarian(185;0.0634)	all_cancers(23;8.07e-33)|all_epithelial(116;4.45e-18)|all_lung(118;1.09e-06)|all_neural(13;3.68e-06)|Lung NSC(185;1.52e-05)|all_hematologic(16;2.39e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00475)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;1.91e-37)|GBM - Glioblastoma multiforme(13;4.87e-29)|OV - Ovarian serous cystadenocarcinoma(86;3.03e-19)|Colorectal(212;1.33e-07)|COAD - Colon adenocarcinoma(227;1.36e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|BRCA - Breast invasive adenocarcinoma(365;0.00109)|STAD - Stomach adenocarcinoma(132;0.00313)|READ - Rectum adenocarcinoma(331;0.0642)|Lung(427;0.246)		GGGCGCTGCCGCCGCAGCTGC	0.612																																						ENST00000377893.2																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|liver(1)|lung(7)|skin(1)	14						c.(211-213)Cgg>Tgg		G protein-coupled receptor 153							125	111	116					1																	6314755		2203	4300	6503	SO:0001583	missense	387509					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr1:6314755G>A	AY255529	CCDS64.1	1p36.31	2012-08-21			ENSG00000158292	ENSG00000158292		"GPCR / Class A : Orphans"	23618	protein-coding gene	gene with protein product		614269				12679517	Standard	NM_207370		Approved	PGR1	uc001amp.2	Q6NV75	OTTHUMG00000001272	ENST00000377893.2:c.211C>T	1.37:g.6314755G>A	ENSP00000367125:p.Arg71Trp						p.R71W	NM_207370.2	NP_997253.2	Q6NV75	GP153_HUMAN		Epithelial(90;1.91e-37)|GBM - Glioblastoma multiforme(13;4.87e-29)|OV - Ovarian serous cystadenocarcinoma(86;3.03e-19)|Colorectal(212;1.33e-07)|COAD - Colon adenocarcinoma(227;1.36e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|BRCA - Breast invasive adenocarcinoma(365;0.00109)|STAD - Stomach adenocarcinoma(132;0.00313)|READ - Rectum adenocarcinoma(331;0.0642)|Lung(427;0.246)	2	470	-	Ovarian(185;0.0634)	all_cancers(23;8.07e-33)|all_epithelial(116;4.45e-18)|all_lung(118;1.09e-06)|all_neural(13;3.68e-06)|Lung NSC(185;1.52e-05)|all_hematologic(16;2.39e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00475)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)	71					Q5TGR5|Q6AHW8|Q86SP8	Missense_Mutation	SNP	ENST00000377893.2	37	c.211C>T	CCDS64.1	.	.	.	.	.	.	.	.	.	.	G	19.42	3.823444	0.71143	.	.	ENSG00000158292	ENST00000377893	T	0.37915	1.17	5.42	3.5	0.40072	GPCR, rhodopsin-like superfamily (1);	0.055375	0.64402	D	0.000002	T	0.43144	0.1234	L	0.29908	0.895	0.38674	D	0.952374	D	0.89917	1.0	D	0.91635	0.999	T	0.43130	-0.9410	10	0.87932	D	0	-42.0087	7.0403	0.25017	0.0809:0.0:0.603:0.3161	.	71	Q6NV75	GP153_HUMAN	W	71	ENSP00000367125:R71W	ENSP00000367125:R71W	R	-	1	2	GPR153	6237342	1.000000	0.71417	0.998000	0.56505	0.987000	0.75469	3.716000	0.54904	0.614000	0.30107	0.557000	0.71058	CGG		0.612	GPR153-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000003717.2			46	106	0	0	0	1	0	46	106					A	6314755	G	A	6314755	3	1	305	1	0	0	0	0	1	0	0	0	6659	1086	38	1	1638	1	GPR153	1	6314755	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	29500	6314755	242935866	8	14525											
H6PD	9563	broad.mit.edu	37	chr1	9324290	9324290	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccaccgctgtgcgagccgtgCggcgctttggccagttccac	4	8	13	16	5	0	0	0	0	0	0	1	1	1	0	5	2	3	3	5	2	0	2			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:9324290C>T	ENST00000377403.2	+	5	2040	c.1738C>T	c.(1738-1740)Cgg>Tgg	p.R580W	H6PD_ENST00000602477.1_Missense_Mutation_p.R591W	NM_001282587.1|NM_004285.3	NP_001269516.1|NP_004276.2	O95479	G6PE_HUMAN	hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase)	580	6-phosphogluconolactonase.				pentose-phosphate shunt (GO:0006098)|response to alcohol (GO:0097305)	endoplasmic reticulum (GO:0005783)|mitochondrion (GO:0005739)	6-phosphogluconolactonase activity (GO:0017057)|carbohydrate binding (GO:0030246)|glucose 1-dehydrogenase [NAD(P)] activity (GO:0047936)|glucose-6-phosphate dehydrogenase activity (GO:0004345)|NADP binding (GO:0050661)			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23	all_lung(157;0.23)	all_epithelial(116;1.28e-19)|all_lung(118;5.22e-06)|Lung NSC(185;1.98e-05)|Renal(390;0.000147)|Breast(348;0.00109)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.88e-07)|COAD - Colon adenocarcinoma(227;7.47e-05)|Kidney(185;0.000244)|KIRC - Kidney renal clear cell carcinoma(229;0.000905)|STAD - Stomach adenocarcinoma(132;0.00176)|BRCA - Breast invasive adenocarcinoma(304;0.00183)|READ - Rectum adenocarcinoma(331;0.0419)		GCGAGCCGTGCGGCGCTTTGG	0.677																																						ENST00000377403.2																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23						c.(1738-1740)Cgg>Tgg		hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase)	NADH(DB00157)						13	14	14					1																	9324290		2197	4289	6486	SO:0001583	missense	9563					endoplasmic reticulum lumen	6-phosphogluconolactonase activity|glucose 1-dehydrogenase|glucose-6-phosphate dehydrogenase activity|NADP binding	g.chr1:9324290C>T	AJ012590	CCDS101.1, CCDS72697.1	1p36	2008-02-05	2003-10-10		ENSG00000049239	ENSG00000049239	1.1.1.47		4795	protein-coding gene	gene with protein product		138090	"glucose dehyrogenase"	GDH		10349511	Standard	NM_001282587		Approved		uc001apt.3	O95479	OTTHUMG00000001768	ENST00000377403.2:c.1738C>T	1.37:g.9324290C>T	ENSP00000366620:p.Arg580Trp					H6PD_ENST00000602477.1_Missense_Mutation_p.R591W	p.R580W	NM_004285.3	NP_004276.2	O95479	G6PE_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.88e-07)|COAD - Colon adenocarcinoma(227;7.47e-05)|Kidney(185;0.000244)|KIRC - Kidney renal clear cell carcinoma(229;0.000905)|STAD - Stomach adenocarcinoma(132;0.00176)|BRCA - Breast invasive adenocarcinoma(304;0.00183)|READ - Rectum adenocarcinoma(331;0.0419)	5	2040	+	all_lung(157;0.23)	all_epithelial(116;1.28e-19)|all_lung(118;5.22e-06)|Lung NSC(185;1.98e-05)|Renal(390;0.000147)|Breast(348;0.00109)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)	580			6-phosphogluconolactonase.		Q4TT33|Q66I35|Q68DT3	Missense_Mutation	SNP	ENST00000377403.2	37	c.1738C>T	CCDS101.1	.	.	.	.	.	.	.	.	.	.	C	13.51	2.259375	0.39995	.	.	ENSG00000049239	ENST00000377403	T	0.45276	0.9	5.67	1.02	0.19986	Glucosamine/galactosamine-6-phosphate isomerase (1);6-phosphogluconolactonase, DevB-type (1);	0.441071	0.25613	N	0.029472	T	0.55625	0.1932	M	0.83774	2.66	0.39951	D	0.974532	D	0.71674	0.998	P	0.54210	0.745	T	0.64816	-0.6318	10	0.87932	D	0	-33.9396	11.4565	0.50185	0.4103:0.4861:0.1035:0.0	.	580	O95479	G6PE_HUMAN	W	580	ENSP00000366620:R580W	ENSP00000366620:R580W	R	+	1	2	H6PD	9246877	0.005000	0.15991	0.772000	0.31596	0.146000	0.21551	0.120000	0.15647	0.296000	0.22592	0.561000	0.74099	CGG		0.677	H6PD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004928.2	NM_004285		11	23	0	0	0	1	0	11	23					T	9324290	C	T	9324290	3	4	305	1	0	0	0	0	1	0	0	0	6936	759	27	1	1752	1	H6PD	1	9324290	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	3009535	9324290	239926331	9	14526											
EXOSC10	5394	broad.mit.edu	37	chr1	11142844	11142844	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctgcccaggttaagaaggCgtgctgcctgatgagtatca	9	9	13	10	1	1	3	1	2	0	1	1	3	1	3	3	2	3	3	3	2	3	2	rs201756050		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:11142844C>T	ENST00000376936.4	-	10	1230	c.1181G>A	c.(1180-1182)cGc>cAc	p.R394H	EXOSC10_ENST00000485606.1_5'Flank|EXOSC10_ENST00000544779.1_Missense_Mutation_p.R394H|EXOSC10_ENST00000304457.7_Missense_Mutation_p.R394H	NM_001001998.1	NP_001001998.1	Q01780	EXOSX_HUMAN	exosome component 10	394					CUT catabolic process (GO:0071034)|dosage compensation by inactivation of X chromosome (GO:0009048)|histone mRNA catabolic process (GO:0071044)|maturation of 5.8S rRNA (GO:0000460)|nuclear mRNA surveillance (GO:0071028)|nuclear polyadenylation-dependent rRNA catabolic process (GO:0071035)|nuclear retention of unspliced pre-mRNA at the site of transcription (GO:0071048)|nuclear-transcribed mRNA catabolic process (GO:0000956)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)	cytoplasm (GO:0005737)|exosome (RNase complex) (GO:0000178)|membrane (GO:0016020)|nuclear exosome (RNase complex) (GO:0000176)|nucleolus (GO:0005730)|nucleus (GO:0005634)|transcriptionally active chromatin (GO:0035327)	3'-5' exonuclease activity (GO:0008408)|exoribonuclease activity (GO:0004532)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|stomach(3)|upper_aerodigestive_tract(1)	27	Ovarian(185;0.249)	Lung NSC(185;1.74e-05)|all_lung(284;2.05e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;4.18e-07)|COAD - Colon adenocarcinoma(227;8.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000315)|Kidney(185;0.000832)|KIRC - Kidney renal clear cell carcinoma(229;0.00269)|READ - Rectum adenocarcinoma(331;0.0526)|STAD - Stomach adenocarcinoma(313;0.202)		GTTAAGAAGGCGTGCTGCCTG	0.448																																					Colon(179;105 1987 14326 27364 29542)	ENST00000544779.1																			0				central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|stomach(3)|upper_aerodigestive_tract(1)	27						c.(1180-1182)cGc>cAc		exosome component 10							219	191	201					1																	11142844		2203	4300	6503	SO:0001583	missense	5394				CUT catabolic process|histone mRNA catabolic process|maturation of 5.8S rRNA|nuclear polyadenylation-dependent rRNA catabolic process|nuclear retention of unspliced pre-mRNA at the site of transcription|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytoplasm|nuclear exosome (RNase complex)|nucleolus|transcriptionally active chromatin	3'-5' exonuclease activity|exoribonuclease activity|identical protein binding|nucleotide binding|protein serine/threonine kinase activity|RNA binding	g.chr1:11142844C>T	BC073788	CCDS126.1, CCDS30584.1	1p36.22	2008-02-05	2004-06-16	2004-06-18	ENSG00000171824	ENSG00000171824			9138	protein-coding gene	gene with protein product	"polymyositis/scleroderma autoantigen 2 (100kD)"	605960	"polymyositis/scleroderma autoantigen 2, 100kDa"	PMSCL2		1383382, 1644924	Standard	NM_001001998		Approved	PM-Scl, PM/Scl-100, Rrp6p, RRP6, p2, p3, p4	uc001asa.3	Q01780	OTTHUMG00000002123	ENST00000376936.4:c.1181G>A	1.37:g.11142844C>T	ENSP00000366135:p.Arg394His					EXOSC10_ENST00000376936.4_Missense_Mutation_p.R394H|EXOSC10_ENST00000304457.7_Missense_Mutation_p.R394H	p.R394H			Q01780	EXOSX_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;4.18e-07)|COAD - Colon adenocarcinoma(227;8.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000315)|Kidney(185;0.000832)|KIRC - Kidney renal clear cell carcinoma(229;0.00269)|READ - Rectum adenocarcinoma(331;0.0526)|STAD - Stomach adenocarcinoma(313;0.202)	10	1186	-	Ovarian(185;0.249)	Lung NSC(185;1.74e-05)|all_lung(284;2.05e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	394					B1AKQ0|B1AKQ1|Q15158	Missense_Mutation	SNP	ENST00000376936.4	37	c.1181G>A	CCDS30584.1	.	.	.	.	.	.	.	.	.	.	C	35	5.483564	0.96307	.	.	ENSG00000171824	ENST00000376936;ENST00000304457;ENST00000544779	T;T;T	0.64438	-0.1;-0.1;-0.1	6.07	6.07	0.98685	-5&apos (2);Ribonuclease H-like (1); exonuclease (2);3&apos (2);	0.000000	0.85682	D	0.000000	T	0.80706	0.4674	M	0.88704	2.975	0.80722	D	1	D;D	0.69078	0.997;0.996	P;P	0.57911	0.829;0.817	T	0.81276	-0.1006	10	0.45353	T	0.12	-19.6345	19.6475	0.95784	0.0:1.0:0.0:0.0	.	394;394	Q01780-2;Q01780	.;EXOSX_HUMAN	H	394	ENSP00000366135:R394H;ENSP00000307307:R394H;ENSP00000439473:R394H	ENSP00000307307:R394H	R	-	2	0	EXOSC10	11065431	1.000000	0.71417	0.995000	0.50966	0.958000	0.62258	7.818000	0.86416	2.885000	0.99019	0.655000	0.94253	CGC		0.448	EXOSC10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000006078.1	NM_001001998		4	149	0	0	0	1	0	4	149					T	11142844	C	T	11142844	3	4	305	1	0	0	0	0	1	0	0	0	5314	768	27	1	1540	1	EXOSC10	1	11142844	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	1818554	11142844	238107777	10	14527											
EXOSC10	5394	broad.mit.edu	37	chr1	11158106	11158106	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aacctgtctccctgtgtttcGcaaaatgcttggaagccagg	9	11	10	11	1	1	0	0	0	1	0	3	1	1	1	3	2	3	3	3	2	4	2			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:11158106G>A	ENST00000376936.4	-	2	268	c.219C>T	c.(217-219)tgC>tgT	p.C73C	EXOSC10_ENST00000544779.1_Silent_p.C73C|RP4-635E18.6_ENST00000435388.1_RNA|RP4-635E18.6_ENST00000447600.1_RNA|EXOSC10_ENST00000304457.7_Silent_p.C73C	NM_001001998.1	NP_001001998.1	Q01780	EXOSX_HUMAN	exosome component 10	73					CUT catabolic process (GO:0071034)|dosage compensation by inactivation of X chromosome (GO:0009048)|histone mRNA catabolic process (GO:0071044)|maturation of 5.8S rRNA (GO:0000460)|nuclear mRNA surveillance (GO:0071028)|nuclear polyadenylation-dependent rRNA catabolic process (GO:0071035)|nuclear retention of unspliced pre-mRNA at the site of transcription (GO:0071048)|nuclear-transcribed mRNA catabolic process (GO:0000956)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)	cytoplasm (GO:0005737)|exosome (RNase complex) (GO:0000178)|membrane (GO:0016020)|nuclear exosome (RNase complex) (GO:0000176)|nucleolus (GO:0005730)|nucleus (GO:0005634)|transcriptionally active chromatin (GO:0035327)	3'-5' exonuclease activity (GO:0008408)|exoribonuclease activity (GO:0004532)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|stomach(3)|upper_aerodigestive_tract(1)	27	Ovarian(185;0.249)	Lung NSC(185;1.74e-05)|all_lung(284;2.05e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;4.18e-07)|COAD - Colon adenocarcinoma(227;8.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000315)|Kidney(185;0.000832)|KIRC - Kidney renal clear cell carcinoma(229;0.00269)|READ - Rectum adenocarcinoma(331;0.0526)|STAD - Stomach adenocarcinoma(313;0.202)		CCTGTGTTTCGCAAAATGCTT	0.428																																					Colon(179;105 1987 14326 27364 29542)	ENST00000544779.1																			0				central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|stomach(3)|upper_aerodigestive_tract(1)	27						c.(217-219)tgC>tgT		exosome component 10							80	74	76					1																	11158106		2203	4300	6503	SO:0001819	synonymous_variant	5394				CUT catabolic process|histone mRNA catabolic process|maturation of 5.8S rRNA|nuclear polyadenylation-dependent rRNA catabolic process|nuclear retention of unspliced pre-mRNA at the site of transcription|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytoplasm|nuclear exosome (RNase complex)|nucleolus|transcriptionally active chromatin	3'-5' exonuclease activity|exoribonuclease activity|identical protein binding|nucleotide binding|protein serine/threonine kinase activity|RNA binding	g.chr1:11158106G>A	BC073788	CCDS126.1, CCDS30584.1	1p36.22	2008-02-05	2004-06-16	2004-06-18	ENSG00000171824	ENSG00000171824			9138	protein-coding gene	gene with protein product	"polymyositis/scleroderma autoantigen 2 (100kD)"	605960	"polymyositis/scleroderma autoantigen 2, 100kDa"	PMSCL2		1383382, 1644924	Standard	NM_001001998		Approved	PM-Scl, PM/Scl-100, Rrp6p, RRP6, p2, p3, p4	uc001asa.3	Q01780	OTTHUMG00000002123	ENST00000376936.4:c.219C>T	1.37:g.11158106G>A						EXOSC10_ENST00000376936.4_Silent_p.C73C|EXOSC10_ENST00000304457.7_Silent_p.C73C	p.C73C			Q01780	EXOSX_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;4.18e-07)|COAD - Colon adenocarcinoma(227;8.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000315)|Kidney(185;0.000832)|KIRC - Kidney renal clear cell carcinoma(229;0.00269)|READ - Rectum adenocarcinoma(331;0.0526)|STAD - Stomach adenocarcinoma(313;0.202)	2	224	-	Ovarian(185;0.249)	Lung NSC(185;1.74e-05)|all_lung(284;2.05e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	73					B1AKQ0|B1AKQ1|Q15158	Silent	SNP	ENST00000376936.4	37	c.219C>T	CCDS30584.1																																																																																				0.428	EXOSC10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000006078.1	NM_001001998		3	26	0	0	0	1	0	3	26					A	11158106	G	A	11158106	2	1	305	1	0	0	0	0	0	0	0	1	5314	1079	38	1		1	EXOSC10	1	11158106	Silent	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	15262	11158106	238092515	11	14528											
SPEN	23013	broad.mit.edu	37	chr1	16259480	16259480	+	Frame_Shift_Del	DEL	C	C	-																															aatcccagacagatctgcaaCcccccgcaggtgcacaggcg																										TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:16259480delC	ENST00000375759.3	+	11	6949	c.6745delC	c.(6745-6747)cccfs	p.P2250fs		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	2250	Interaction with MSX2. {ECO:0000250}.|RID.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription, DNA-templated (GO:0045893)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription corepressor activity (GO:0003714)	p.A2251fs*102(1)		NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		AGATCTGCAACCCCCCGCAGG	0.557																																						ENST00000375759.3																			1	Deletion - Frameshift(1)	p.A2251fs*102(1)	large_intestine(1)	NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149						c.(6745-6747)ccfs		spen family transcriptional repressor							75	83	80					1																	16259480		2203	4300	6503	SO:0001589	frameshift_variant	23013				interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding	g.chr1:16259480delC		CCDS164.1	1p36	2013-10-17	2013-10-17		ENSG00000065526	ENSG00000065526		"RNA binding motif (RRM) containing"	17575	protein-coding gene	gene with protein product		613484	"SPEN homolog, transcriptional regulator (Drosophila)", "spen homolog, transcriptional regulator (Drosophila)"			10451362, 11331609	Standard	NM_015001		Approved	KIAA0929, MINT, SHARP, RBM15C	uc001axk.1	Q96T58	OTTHUMG00000009376	ENST00000375759.3:c.6745delC	1.37:g.16259480delC	ENSP00000364912:p.Pro2250fs						p.P2250fs	NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)	11	6949	+		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)	2250			Interaction with MSX2 (By similarity).|RID.		Q9H9A8|Q9NWH5|Q9UQ01|Q9Y556	Frame_Shift_Del	DEL	ENST00000375759.3	37	c.6745delC	CCDS164.1																																																																																				0.557	SPEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025993.1	NM_015001		47	159						47	159	---	---	---	---	-	16259480	C	-	16259480	7	5	305	1	0	1	0	1	0	0	0	0	15037	507	18	0	6787	0	SPEN	1	16259480	Frame_Shift_Del	DEL	C	TCGA-KK-A59V-01A-11D-A29Q-08	5101374	16259480	232991141	12	14529											
CROCC	9696	broad.mit.edu	37	chr1	17279878	17279878	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agcaggaggagctgctggccCggctggaggctgagaaggaa	10	4	19	8	1	0	1	0	1	0	1	0	6	0	5	1	7	3	5	1	7	2	0	rs111474169		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:17279878C>T	ENST00000375541.5	+	21	3157	c.3088C>T	c.(3088-3090)Cgg>Tgg	p.R1030W	CROCC_ENST00000467938.1_3'UTR	NM_014675.3	NP_055490.3			ciliary rootlet coiled-coil, rootletin											breast(3)|central_nervous_system(2)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(1)|lung(20)|ovary(3)|prostate(9)|skin(3)|urinary_tract(1)	62		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)		GCTGCTGGCCCGGCTGGAGGC	0.672																																						ENST00000375541.5																			0				breast(3)|central_nervous_system(2)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(1)|lung(20)|ovary(3)|prostate(9)|skin(3)|urinary_tract(1)	62						c.(3088-3090)Cgg>Tgg		ciliary rootlet coiled-coil, rootletin							15	17	16					1																	17279878		2190	4283	6473	SO:0001583	missense	9696				cell cycle|cell projection organization|centrosome organization|protein localization	actin cytoskeleton|centriole|ciliary rootlet|plasma membrane	kinesin binding|structural molecule activity	g.chr1:17279878C>T	AB007914	CCDS30616.1	1p36.13	2010-06-04	2009-03-04	2009-03-04	ENSG00000058453	ENSG00000058453			21299	protein-coding gene	gene with protein product	"rootletin, ciliary rootlet protein"	615776				12427867, 17971504	Standard	XM_006711056		Approved	rootletin, ROLT	uc001azt.2	Q5TZA2	OTTHUMG00000002200	ENST00000375541.5:c.3088C>T	1.37:g.17279878C>T	ENSP00000364691:p.Arg1030Trp					CROCC_ENST00000467938.1_3'UTR	p.R1030W	NM_014675.3	NP_055490.3	Q5TZA2	CROCC_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)	21	3157	+		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)	1030						Missense_Mutation	SNP	ENST00000375541.5	37	c.3088C>T	CCDS30616.1	.	.	.	.	.	.	.	.	.	.	C	15.11	2.736061	0.49045	.	.	ENSG00000058453	ENST00000375541;ENST00000445545	T	0.11277	2.79	3.6	2.67	0.31697	.	.	.	.	.	T	0.28566	0.0707	M	0.72118	2.19	0.44454	D	0.997388	D;D;D	0.89917	1.0;0.997;0.997	D;P;P	0.70016	0.967;0.616;0.725	T	0.02251	-1.1188	9	0.72032	D	0.01	.	11.424	0.49998	0.0:0.815:0.185:0.0	.	893;333;1030	A1L0S8;Q5TZA2-2;Q5TZA2	.;.;CROCC_HUMAN	W	1030;911	ENSP00000364691:R1030W	ENSP00000364691:R1030W	R	+	1	2	CROCC	17152465	0.059000	0.20769	1.000000	0.80357	0.985000	0.73830	1.091000	0.30915	0.787000	0.33731	0.455000	0.32223	CGG		0.672	CROCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006249.2	NM_014675		16	28	0	0	0	1	0	16	28					T	17279878	C	T	17279878	3	4	305	1	0	0	0	0	1	0	0	0	3893	643	23	2	3170	2	CROCC	1	17279878	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	1020398	17279878	231970743	13	14530											
RCC2	55920	broad.mit.edu	37	chr1	17735625	17735625	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tattctggcagtttcttgatCttctctttctcagtctcact	5	20	5	11	0	6	1	2	1	6	0	9	1	6	1	0	1	0	2	0	1	1	6			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:17735625C>A	ENST00000375436.4	-	13	1717	c.1530G>T	c.(1528-1530)aaG>aaT	p.K510N	RCC2_ENST00000375433.3_Missense_Mutation_p.K510N|RCC2_ENST00000474892.1_5'Flank|RP1-20B21.4_ENST00000439577.1_RNA	NM_018715.3	NP_061185.1	Q9P258	RCC2_HUMAN	regulator of chromosome condensation 2	510					chromosome passenger complex localization to kinetochore (GO:0072356)|endosome organization (GO:0007032)|focal adhesion assembly (GO:0048041)|integrin-mediated signaling pathway (GO:0007229)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of GTPase activity (GO:0034260)|negative regulation of substrate adhesion-dependent cell spreading (GO:1900025)|positive regulation of attachment of spindle microtubules to kinetochore (GO:0051987)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|regulation of cell migration (GO:0030334)	chromosome, centromeric core domain (GO:0034506)|cytosol (GO:0005829)|microtubule (GO:0005874)|midbody (GO:0030496)|mitotic spindle midzone (GO:1990023)|nucleus (GO:0005634)	microtubule binding (GO:0008017)|poly(A) RNA binding (GO:0044822)|Rac GTPase binding (GO:0048365)			breast(2)|endometrium(1)|kidney(3)|large_intestine(7)|lung(4)	17		Colorectal(325;0.000147)|Breast(348;0.00122)|Renal(390;0.00145)|all_lung(284;0.0054)|Lung NSC(340;0.00566)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00492)|BRCA - Breast invasive adenocarcinoma(304;7.69e-06)|COAD - Colon adenocarcinoma(227;1.19e-05)|Kidney(64;0.000189)|KIRC - Kidney renal clear cell carcinoma(64;0.00273)|STAD - Stomach adenocarcinoma(196;0.0135)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.19)		GTTTCTTGATCTTCTCTTTCT	0.547																																						ENST00000375436.4																			0				breast(2)|endometrium(1)|kidney(3)|large_intestine(7)|lung(4)	17						c.(1528-1530)aaG>aaT		regulator of chromosome condensation 2							203	187	192					1																	17735625		2203	4300	6503	SO:0001583	missense	55920				cell division|mitotic prometaphase	chromosome, centromeric region|cytosol|microtubule|nucleolus|spindle		g.chr1:17735625C>A		CCDS181.1	1p36.13	2010-05-05			ENSG00000179051	ENSG00000179051			30297	protein-coding gene	gene with protein product		609587				10819331, 12919680	Standard	NM_018715		Approved	TD-60	uc001bal.3	Q9P258	OTTHUMG00000002513	ENST00000375436.4:c.1530G>T	1.37:g.17735625C>A	ENSP00000364585:p.Lys510Asn					RCC2_ENST00000375433.3_Missense_Mutation_p.K510N	p.K510N	NM_018715.3	NP_061185.1	Q9P258	RCC2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00492)|BRCA - Breast invasive adenocarcinoma(304;7.69e-06)|COAD - Colon adenocarcinoma(227;1.19e-05)|Kidney(64;0.000189)|KIRC - Kidney renal clear cell carcinoma(64;0.00273)|STAD - Stomach adenocarcinoma(196;0.0135)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.19)	13	1717	-		Colorectal(325;0.000147)|Breast(348;0.00122)|Renal(390;0.00145)|all_lung(284;0.0054)|Lung NSC(340;0.00566)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)	510					Q8IVL9|Q9BSN6|Q9NPV8	Missense_Mutation	SNP	ENST00000375436.4	37	c.1530G>T	CCDS181.1	.	.	.	.	.	.	.	.	.	.	C	17.90	3.503125	0.64298	.	.	ENSG00000179051	ENST00000375436;ENST00000375433	T;T	0.38240	1.15;1.15	5.42	4.5	0.54988	.	0.099203	0.64402	D	0.000002	T	0.23094	0.0558	L	0.28400	0.85	0.48975	D	0.999734	P	0.43094	0.799	B	0.35413	0.202	T	0.02282	-1.1183	10	0.39692	T	0.17	-25.88	10.9102	0.47103	0.0:0.9121:0.0:0.0879	.	510	Q9P258	RCC2_HUMAN	N	510	ENSP00000364585:K510N;ENSP00000364582:K510N	ENSP00000364582:K510N	K	-	3	2	RCC2	17608212	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.107000	0.41844	2.704000	0.92352	0.650000	0.86243	AAG		0.547	RCC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007144.1	NM_018715		7	170	1	0	0.000157383	1	0.000160498	7	170					A	17735625	C	A	17735625	3	1	305	1	0	0	0	0	1	0	0	0	13174	912	32	5	42	5	RCC2	1	17735625	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	455747	17735625	231514996	14	14531											
CAPZB	832	broad.mit.edu	37	chr1	19666098	19666098	+	3'UTR	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttgttttgatttgtctgcaaAagtctgcacagacctgcaag	10	14	9	8	0	2	2	0	1	2	1	2	2	2	2	1	0	3	4	1	0	3	4			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:19666098A>G	ENST00000375142.1	-	0	904				CAPZB_ENST00000264203.3_Missense_Mutation_p.F249S|CAPZB_ENST00000433834.1_Missense_Mutation_p.F278L|CAPZB_ENST00000401084.2_Missense_Mutation_p.F249L|CAPZB_ENST00000375144.1_Missense_Mutation_p.F237L	NM_001206540.1	NP_001193469.1	P47756	CAPZB_HUMAN	capping protein (actin filament) muscle Z-line, beta						actin cytoskeleton organization (GO:0030036)|barbed-end actin filament capping (GO:0051016)|blood coagulation (GO:0007596)|cellular component movement (GO:0006928)|cytoskeleton organization (GO:0007010)|lamellipodium assembly (GO:0030032)|muscle fiber development (GO:0048747)|negative regulation of microtubule polymerization (GO:0031115)|neuron projection development (GO:0031175)|regulation of cell morphogenesis (GO:0022604)|regulation of protein kinase C signaling (GO:0090036)	acrosomal vesicle (GO:0001669)|actin cytoskeleton (GO:0015629)|cortical cytoskeleton (GO:0030863)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|F-actin capping protein complex (GO:0008290)|intercalated disc (GO:0014704)|lamellipodium (GO:0030027)|membrane (GO:0016020)|WASH complex (GO:0071203)|Z disc (GO:0030018)	actin binding (GO:0003779)			endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|urinary_tract(1)	7		Colorectal(325;3.93e-05)|Renal(390;0.000147)|all_lung(284;0.000169)|Lung NSC(340;0.000202)|Breast(348;0.000496)|Ovarian(437;0.00428)|Myeloproliferative disorder(586;0.0262)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Kidney(64;8.63e-06)|BRCA - Breast invasive adenocarcinoma(304;4.06e-05)|KIRC - Kidney renal clear cell carcinoma(64;0.000175)|GBM - Glioblastoma multiforme(114;0.000525)|STAD - Stomach adenocarcinoma(196;0.00779)|READ - Rectum adenocarcinoma(331;0.103)|Lung(427;0.173)		TTGTCTGCAAAAGTCTGCACA	0.522																																						ENST00000264203.3																			0				endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|urinary_tract(1)	7						c.(745-747)tTt>tCt		capping protein (actin filament) muscle Z-line, beta							182	179	180					1																	19666098		1915	4137	6052	SO:0001624	3_prime_UTR_variant	832				actin cytoskeleton organization|actin filament capping|blood coagulation|cellular component movement	cytosol|F-actin capping protein complex|WASH complex	actin binding	g.chr1:19666098A>G	U03271	CCDS41277.1, CCDS55579.1, CCDS72717.1, CCDS72718.1	1p36.1	2014-05-09			ENSG00000077549	ENSG00000077549			1491	protein-coding gene	gene with protein product		601572					Standard	NM_004930		Approved		uc021ohr.1	P47756	OTTHUMG00000002556	ENST00000375142.1:c.*24T>C	1.37:g.19666098A>G						CAPZB_ENST00000433834.1_Missense_Mutation_p.F278L|CAPZB_ENST00000401084.2_Missense_Mutation_p.F249L|CAPZB_ENST00000375144.1_Missense_Mutation_p.F237L|CAPZB_ENST00000375142.1_3'UTR	p.F249S			P47756	CAPZB_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Kidney(64;8.63e-06)|BRCA - Breast invasive adenocarcinoma(304;4.06e-05)|KIRC - Kidney renal clear cell carcinoma(64;0.000175)|GBM - Glioblastoma multiforme(114;0.000525)|STAD - Stomach adenocarcinoma(196;0.00779)|READ - Rectum adenocarcinoma(331;0.103)|Lung(427;0.173)	9	1239	-		Colorectal(325;3.93e-05)|Renal(390;0.000147)|all_lung(284;0.000169)|Lung NSC(340;0.000202)|Breast(348;0.000496)|Ovarian(437;0.00428)|Myeloproliferative disorder(586;0.0262)	0					Q32Q68|Q5U0L4|Q8TB49|Q9NUC4	Missense_Mutation	SNP	ENST00000375142.1	37	c.746T>C	CCDS55579.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	12.09|12.09	1.833311|1.833311	0.32421|0.32421	.|.	.|.	ENSG00000077549|ENSG00000077549	ENST00000401084;ENST00000375144;ENST00000433834;ENST00000375145|ENST00000264203	.|.	.|.	.|.	6.06|6.06	6.06|6.06	0.98353|0.98353	.|.	0.220504|0.220504	0.48286|0.48286	D|D	0.000196|0.000196	T|T	0.28067|0.28067	0.0692|0.0692	N|N	0.01874|0.01874	-0.695|-0.695	0.80722|0.80722	D|D	1|1	B;B;B|B	0.02656|0.02656	0.0;0.0;0.0|0.0	B;B;B|B	0.04013|0.06405	0.001;0.0;0.0|0.002	T|T	0.17623|0.17623	-1.0363|-1.0363	9|9	0.09084|0.23302	T|T	0.74|0.38	-15.3014|-15.3014	15.4367|15.4367	0.75152|0.75152	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	278;249;237|249	B1AK88;P47756-2;B1AK87|B1AK85	.;.;.|.	L|S	249;237;278;311|249	.|.	ENSP00000364286:F237L|ENSP00000264203:F249S	F|F	-|-	1|2	0|0	CAPZB|CAPZB	19538685|19538685	1.000000|1.000000	0.71417|0.71417	0.995000|0.995000	0.50966|0.50966	0.905000|0.905000	0.53344|0.53344	6.422000|6.422000	0.73357|0.73357	2.322000|2.322000	0.78497|0.78497	0.528000|0.528000	0.53228|0.53228	TTT|TTT		0.522	CAPZB-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000007260.1			7	203	0	0	0	1	0	7	203					G	19666098	A	G	19666098	1	3	305	0	1	0	0	0	0	0	0	0	2643	14	1	4		4	CAPZB	1	19666098	3'UTR	SNP	A	TCGA-KK-A59V-01A-11D-A29Q-08	1930473	19666098	229584523	15	14532											
HTR6	3362	broad.mit.edu	37	chr1	20005666	20005666	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgccgctgcccctgccgccGgactcagattcggactcaga	6	7	11	17	4	2	2	2	0	0	2	3	4	2	4	5	2	3	1	5	2	0	1	rs201944154		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:20005666G>A	ENST00000289753.1	+	3	1595	c.1128G>A	c.(1126-1128)ccG>ccA	p.P376P		NM_000871.1	NP_000862.1	P50406	5HT6R_HUMAN	5-hydroxytryptamine (serotonin) receptor 6, G protein-coupled	376					brain development (GO:0007420)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|learning (GO:0007612)|long-term synaptic potentiation (GO:0060291)|negative regulation of acetylcholine secretion, neurotransmission (GO:0014058)|negative regulation of gamma-aminobutyric acid secretion (GO:0014053)|negative regulation of glutamate secretion (GO:0014050)|positive regulation of dopamine secretion (GO:0033603)|positive regulation of gamma-aminobutyric acid secretion (GO:0014054)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|synaptic transmission (GO:0007268)	cilium (GO:0005929)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	histamine receptor activity (GO:0004969)|serotonin receptor activity (GO:0004993)			endometrium(1)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00519)|Breast(348;0.00526)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;5.81e-05)|Kidney(64;0.00017)|GBM - Glioblastoma multiforme(114;0.00117)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182)	Amitriptyline(DB00321)|Amoxapine(DB00543)|Aripiprazole(DB01238)|Asenapine(DB06216)|Chlorpromazine(DB00477)|Clozapine(DB00363)|Doxepin(DB01142)|Ergoloid mesylate(DB01049)|Iloperidone(DB04946)|Imipramine(DB00458)|Loxapine(DB00408)|Mianserin(DB06148)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Quetiapine(DB01224)|Sertindole(DB06144)|Ziprasidone(DB00246)	CCCTGCCGCCGGACTCAGATT	0.736																																					Esophageal Squamous(168;1879 2619 6848 21062)	ENST00000289753.1																			0				endometrium(1)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13						c.(1126-1128)ccG>ccA		5-hydroxytryptamine (serotonin) receptor 6, G protein-coupled	Granisetron(DB00889)|Ondansetron(DB00904)|Sertindole(DB06144)						5	7	7					1																	20005666		2108	4164	6272	SO:0001819	synonymous_variant	3362				G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	histamine receptor activity|protein binding	g.chr1:20005666G>A	L41147	CCDS197.1	1p36-p35	2012-08-08	2012-02-03		ENSG00000158748	ENSG00000158748		"5-HT (serotonin) receptors", "GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"	5301	protein-coding gene	gene with protein product		601109	"5-hydroxytryptamine (serotonin) receptor 6"			8522988	Standard	NM_000871		Approved	5-HT6, 5-HT6R	uc001bcl.3	P50406	OTTHUMG00000002713	ENST00000289753.1:c.1128G>A	1.37:g.20005666G>A							p.P376P	NM_000871.1	NP_000862.1	P50406	5HT6R_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;5.81e-05)|Kidney(64;0.00017)|GBM - Glioblastoma multiforme(114;0.00117)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182)	3	1595	+		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00519)|Breast(348;0.00526)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)	376					Q13640|Q5TGZ1	Silent	SNP	ENST00000289753.1	37	c.1128G>A	CCDS197.1																																																																																				0.736	HTR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007704.1	NM_000871		6	15	0	0	0	1	0	6	15					A	20005666	G	A	20005666	2	1	305	1	0	0	0	0	0	0	0	1	7451	1103	39	2		2	HTR6	1	20005666	Silent	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	339568	20005666	229244955	16	14533											
TMCO4	255104	broad.mit.edu	37	chr1	20009647	20009650	+	Frame_Shift_Del	DEL	AGGA	AGGA	-																															ctttcagggctggcagcagcAggaagggaggccccttcaga																										TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:20009647_20009650delAGGA	ENST00000294543.6	-	16	2029_2032	c.1788_1791delTCCT	c.(1786-1791)cttcctfs	p.LP596fs	TMCO4_ENST00000375127.1_Intron|TMCO4_ENST00000489814.1_5'UTR|TMCO4_ENST00000375122.2_Frame_Shift_Del_p.LP556fs	NM_181719.4	NP_859070.3	Q5TGY1	TMCO4_HUMAN	transmembrane and coiled-coil domains 4	596						integral component of membrane (GO:0016021)				biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|lung(11)|skin(1)|upper_aerodigestive_tract(1)	19		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00519)|Breast(348;0.00526)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00708)|COAD - Colon adenocarcinoma(152;2.28e-05)|BRCA - Breast invasive adenocarcinoma(304;5.8e-05)|Kidney(64;0.000367)|GBM - Glioblastoma multiforme(114;0.000377)|KIRC - Kidney renal clear cell carcinoma(64;0.00459)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0862)|Lung(427;0.223)		TGGCAGCAGCAGGAAGGGAGGCCC	0.647																																						ENST00000294543.6																			0				biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|lung(11)|skin(1)|upper_aerodigestive_tract(1)	19						c.(1786-1791)ctfs		transmembrane and coiled-coil domains 4																																				SO:0001589	frameshift_variant	255104					integral to membrane		g.chr1:20009647_20009650delAGGA		CCDS198.1	1p36.13	2008-02-05			ENSG00000162542	ENSG00000162542			27393	protein-coding gene	gene with protein product							Standard	NM_181719		Approved	DKFZp686C23231	uc001bcn.3	Q5TGY1	OTTHUMG00000002697	ENST00000294543.6:c.1788_1791delTCCT	1.37:g.20009647_20009650delAGGA	ENSP00000294543:p.Leu596fs					TMCO4_ENST00000375122.2_Frame_Shift_Del_p.LP556fs|TMCO4_ENST00000489814.1_5'UTR|TMCO4_ENST00000375127.1_Intron	p.LP596fs	NM_181719.4	NP_859070.3	Q5TGY1	TMCO4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00708)|COAD - Colon adenocarcinoma(152;2.28e-05)|BRCA - Breast invasive adenocarcinoma(304;5.8e-05)|Kidney(64;0.000367)|GBM - Glioblastoma multiforme(114;0.000377)|KIRC - Kidney renal clear cell carcinoma(64;0.00459)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0862)|Lung(427;0.223)	16	2029_2032	-		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00519)|Breast(348;0.00526)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)	596					Q5TGY2|Q6MZN5|Q7Z6K6|Q9UQP4|Q9Y3K1	Frame_Shift_Del	DEL	ENST00000294543.6	37	c.1788_1791delTCCT	CCDS198.1																																																																																				0.647	TMCO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007658.1	NM_181719		23	99						23	99	---	---	---	---	-	20009650	AGGA	-	20009647	7	5	305	1	0	1	0	1	0	0	0	0	15995	175	7	0	117	0	TMCO4	1	20009647	Frame_Shift_Del	DEL	AGGA	TCGA-KK-A59V-01A-11D-A29Q-08	3981	20009647	229240974	17	14534											
KIF17	57576	broad.mit.edu	37	chr1	21014273	21014273	+	Frame_Shift_Del	DEL	G	G	-																															cgcaaacctggaggaaacctGagtcttggagacatcgtcac																										TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:21014273delG	ENST00000247986.2	-	8	1856	c.1546delC	c.(1546-1548)cagfs	p.Q516fs	KIF17_ENST00000375044.1_Frame_Shift_Del_p.Q416fs|KIF17_ENST00000490034.1_Intron|KIF17_ENST00000400463.3_Frame_Shift_Del_p.Q516fs			Q9P2E2	KIF17_HUMAN	kinesin family member 17	516					ATP catabolic process (GO:0006200)|cell projection organization (GO:0030030)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|neurogenesis (GO:0022008)|protein complex localization (GO:0031503)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|intraciliary transport particle B (GO:0030992)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|plus-end-directed microtubule motor activity (GO:0008574)			NS(2)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50		all_lung(284;2.99e-05)|Lung NSC(340;3.26e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|COAD - Colon adenocarcinoma(152;1.43e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000168)|Kidney(64;0.000221)|GBM - Glioblastoma multiforme(114;0.000651)|KIRC - Kidney renal clear cell carcinoma(64;0.0031)|STAD - Stomach adenocarcinoma(196;0.00336)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.209)		GAGGAAACCTGAGTCTTGGAG	0.542																																						ENST00000247986.2																			0				NS(2)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50						c.(1546-1548)agfs		kinesin family member 17							84	80	81					1																	21014273		2203	4300	6503	SO:0001589	frameshift_variant	57576				microtubule-based movement|protein transport	cytoplasm|microtubule	ATP binding	g.chr1:21014273delG	AB037826	CCDS213.1, CCDS44079.1, CCDS72722.1	1p36.13	2012-08-01			ENSG00000117245	ENSG00000117245		"Kinesins"	19167	protein-coding gene	gene with protein product	"kinesin-like protein KIF17", "KIF3-related motor protein", "KIF17 variant protein"	605037				10846156	Standard	XR_241202		Approved	KIAA1405, KIF3X, KIF17B, OSM-3, KLP-2	uc001bdr.4	Q9P2E2	OTTHUMG00000002863	ENST00000247986.2:c.1546delC	1.37:g.21014273delG	ENSP00000247986:p.Gln516fs					KIF17_ENST00000400463.3_Frame_Shift_Del_p.Q516fs|KIF17_ENST00000490034.1_Intron|KIF17_ENST00000375044.1_Frame_Shift_Del_p.Q416fs	p.Q516fs			Q9P2E2	KIF17_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|COAD - Colon adenocarcinoma(152;1.43e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000168)|Kidney(64;0.000221)|GBM - Glioblastoma multiforme(114;0.000651)|KIRC - Kidney renal clear cell carcinoma(64;0.0031)|STAD - Stomach adenocarcinoma(196;0.00336)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.209)	8	1856	-		all_lung(284;2.99e-05)|Lung NSC(340;3.26e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)	516					A2A3Q7|A2A3Q8|O95077|Q53YS6|Q5VWA9|Q6GSA8|Q8N411	Frame_Shift_Del	DEL	ENST00000247986.2	37	c.1546delC	CCDS213.1																																																																																				0.542	KIF17-009	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276995.1	NM_020816		14	137						14	137	---	---	---	---	-	21014273	G	-	21014273	7	5	305	1	0	1	0	1	0	0	0	0	8279	1299	45	0	1575	0	KIF17	1	21014273	Frame_Shift_Del	DEL	G	TCGA-KK-A59V-01A-11D-A29Q-08	1004626	21014273	228236348	18	14535											
HSPG2	3339	broad.mit.edu	37	chr1	22161191	22161191	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttgcacaagcagcaggacGtgggattgtgtggtgccagc	8	8	15	10	1	0	0	0	0	0	0	0	2	0	2	2	3	5	3	2	3	1	2			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:22161191G>A	ENST00000374695.3	-	77	10780	c.10701C>T	c.(10699-10701)caC>caT	p.H3567H		NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	3567	Ig-like C2-type 21.				angiogenesis (GO:0001525)|brain development (GO:0007420)|carbohydrate metabolic process (GO:0005975)|cardiac muscle tissue development (GO:0048738)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|chondrocyte differentiation (GO:0002062)|chondroitin sulfate metabolic process (GO:0030204)|embryonic skeletal system morphogenesis (GO:0048704)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|lipoprotein metabolic process (GO:0042157)|phototransduction, visible light (GO:0007603)|protein localization (GO:0008104)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	basal lamina (GO:0005605)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Palifermin(DB00039)	GCAGCAGGACGTGGGATTGTG	0.622																																						ENST00000374695.3																			0				breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127						c.(10699-10701)caC>caT		heparan sulfate proteoglycan 2	Becaplermin(DB00102)|Palifermin(DB00039)						85	60	68					1																	22161191		2203	4300	6503	SO:0001819	synonymous_variant	3339				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding	g.chr1:22161191G>A	M85289	CCDS30625.1	1p36.1-p35	2013-01-29	2007-02-16	2007-02-16	ENSG00000142798	ENSG00000142798		"Proteoglycans / Extracellular Matrix : Other", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5273	protein-coding gene	gene with protein product	"perlecan proteoglycan"	142461	"Schwartz-Jampel syndrome 1 (chondrodystrophic myotonia)"	SJS1		1685141, 11941538	Standard	XM_005245863		Approved	perlecan, PRCAN	uc001bfj.3	P98160	OTTHUMG00000002674	ENST00000374695.3:c.10701C>T	1.37:g.22161191G>A							p.H3567H	NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	77	10780	-		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)	3567			Ig-like C2-type 21.		Q16287|Q5SZI3|Q9H3V5	Silent	SNP	ENST00000374695.3	37	c.10701C>T	CCDS30625.1																																																																																				0.622	HSPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007598.1	NM_005529		16	29	0	0	0	1	0	16	29					A	22161191	G	A	22161191	2	1	305	1	0	0	0	0	0	0	0	1	7430	1136	40	1		1	HSPG2	1	22161191	Silent	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	1146918	22161191	227089430	19	14536											
HSPG2	3339	broad.mit.edu	37	chr1	22169275	22169275	+	Frame_Shift_Del	DEL	G	G	-																															ccctgtacctggtgccgggcGgggaggctgcccccgcgctt																								rs149203308	byFrequency	TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:22169275delG	ENST00000374695.3	-	67	8977	c.8898delC	c.(8896-8898)cccfs	p.P2966fs		NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	2966	Ig-like C2-type 15.				angiogenesis (GO:0001525)|brain development (GO:0007420)|carbohydrate metabolic process (GO:0005975)|cardiac muscle tissue development (GO:0048738)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|chondrocyte differentiation (GO:0002062)|chondroitin sulfate metabolic process (GO:0030204)|embryonic skeletal system morphogenesis (GO:0048704)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|lipoprotein metabolic process (GO:0042157)|phototransduction, visible light (GO:0007603)|protein localization (GO:0008104)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	basal lamina (GO:0005605)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Palifermin(DB00039)	GGTGCCGGGCGGGGAGGCTGC	0.617																																						ENST00000374695.3																			0				breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127						c.(8896-8898)ccfs		heparan sulfate proteoglycan 2	Becaplermin(DB00102)|Palifermin(DB00039)						40	44	43					1																	22169275		2203	4299	6502	SO:0001589	frameshift_variant	3339				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding	g.chr1:22169275delG	M85289	CCDS30625.1	1p36.1-p35	2013-01-29	2007-02-16	2007-02-16	ENSG00000142798	ENSG00000142798		"Proteoglycans / Extracellular Matrix : Other", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5273	protein-coding gene	gene with protein product	"perlecan proteoglycan"	142461	"Schwartz-Jampel syndrome 1 (chondrodystrophic myotonia)"	SJS1		1685141, 11941538	Standard	XM_005245863		Approved	perlecan, PRCAN	uc001bfj.3	P98160	OTTHUMG00000002674	ENST00000374695.3:c.8898delC	1.37:g.22169275delG	ENSP00000363827:p.Pro2966fs						p.P2966fs	NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	67	8977	-		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)	2966			Ig-like C2-type 15.		Q16287|Q5SZI3|Q9H3V5	Frame_Shift_Del	DEL	ENST00000374695.3	37	c.8898delC	CCDS30625.1																																																																																				0.617	HSPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007598.1	NM_005529		8	101						8	101	---	---	---	---	-	22169275	G	-	22169275	7	5	305	1	0	1	0	1	0	0	0	0	7430	1103	39	0	4401	0	HSPG2	1	22169275	Frame_Shift_Del	DEL	G	TCGA-KK-A59V-01A-11D-A29Q-08	8084	22169275	227081346	20	14537											
EPHB2	2048	broad.mit.edu	37	chr1	23234628	23234628	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctcacgctttctagaggaCgatacctcagaccccaccta	10	9	6	16	2	3	2	2	0	2	2	4	4	3	3	4	1	1	1	4	1	3	4	rs141632768		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:23234628C>T	ENST00000400191.3	+	12	2337	c.2319C>T	c.(2317-2319)gaC>gaT	p.D773D	EPHB2_ENST00000374627.1_Silent_p.D768D|EPHB2_ENST00000374630.3_Silent_p.D773D|EPHB2_ENST00000374632.3_Silent_p.D774D	NM_004442.6|NM_017449.3	NP_004433.2|NP_059145.2	P29323	EPHB2_HUMAN	EPH receptor B2	773	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|camera-type eye morphogenesis (GO:0048593)|central nervous system projection neuron axonogenesis (GO:0021952)|commissural neuron axon guidance (GO:0071679)|corpus callosum development (GO:0022038)|dendritic spine development (GO:0060996)|dendritic spine morphogenesis (GO:0060997)|ephrin receptor signaling pathway (GO:0048013)|inner ear morphogenesis (GO:0042472)|learning (GO:0007612)|negative regulation of axonogenesis (GO:0050771)|nervous system development (GO:0007399)|optic nerve morphogenesis (GO:0021631)|palate development (GO:0060021)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|positive regulation of synapse assembly (GO:0051965)|regulation of body fluid levels (GO:0050878)|retinal ganglion cell axon guidance (GO:0031290)|urogenital system development (GO:0001655)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|protein tyrosine kinase activity (GO:0004713)|transmembrane-ephrin receptor activity (GO:0005005)			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(8)|stomach(1)|urinary_tract(1)	56		Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153)		TTCTAGAGGACGATACCTCAG	0.567																																						ENST00000400191.3																			0				NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(8)|stomach(1)|urinary_tract(1)	56						c.(2317-2319)gaC>gaT		EPH receptor B2		C	,	0,4406		0,0,2203	108	92	97		2322,2319	-6.3	0.8	1	dbSNP_134	97	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	EPHB2	NM_004442.6,NM_017449.3	,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,	774/988,773/987	23234628	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	2048				axon guidance	integral to plasma membrane	ATP binding|transmembrane-ephrin receptor activity	g.chr1:23234628C>T	AF025304	CCDS229.2, CCDS230.1	1p36.1-p35	2014-09-17	2004-10-28		ENSG00000133216	ENSG00000133216	2.7.10.1	"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3393	protein-coding gene	gene with protein product		600997	"EphB2"	DRT, ERK, EPHT3		1648701	Standard	NM_017449		Approved	Hek5, Tyro5	uc001bge.3	P29323	OTTHUMG00000002881	ENST00000400191.3:c.2319C>T	1.37:g.23234628C>T						EPHB2_ENST00000374627.1_Silent_p.D768D|EPHB2_ENST00000374630.3_Silent_p.D773D|EPHB2_ENST00000374632.3_Silent_p.D774D	p.D773D	NM_004442.6|NM_017449.3	NP_004433.2|NP_059145.2	P29323	EPHB2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153)	12	2337	+		Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258)	773			Protein kinase.		O43477|Q5T0U6|Q5T0U7|Q5T0U8	Silent	SNP	ENST00000400191.3	37	c.2319C>T																																																																																					0.567	EPHB2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000008060.2	NM_017449		23	62	0	0	0	1	0	23	62					T	23234628	C	T	23234628	2	4	305	1	0	0	0	0	0	0	0	1	5175	535	19	1		1	EPHB2	1	23234628	Silent	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	1065353	23234628	226015993	21	14538											
MAN1C1	57134	broad.mit.edu	37	chr1	26012962	26012962	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgcttggcagagctataagcGttatgcaatggggaaaaacg	13	9	13	6	2	0	1	0	0	0	1	0	2	0	2	0	3	5	5	0	3	6	4			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:26012962G>A	ENST00000374332.4	+	2	902	c.572G>A	c.(571-573)cGt>cAt	p.R191H	MAN1C1_ENST00000263979.3_Missense_Mutation_p.R11H	NM_020379.2	NP_065112.1	Q9NR34	MA1C1_HUMAN	mannosidase, alpha, class 1C, member 1	191					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)	calcium ion binding (GO:0005509)|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity (GO:0004571)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(7)|pancreas(1)|prostate(1)|skin(2)	25		Colorectal(325;3.78e-05)|Lung NSC(340;0.000181)|all_lung(284;0.000245)|Renal(390;0.000714)|Ovarian(437;0.00159)|Breast(348;0.0156)|Myeloproliferative disorder(586;0.0257)|all_neural(195;0.0515)|Esophageal squamous(538;0.232)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0574)|OV - Ovarian serous cystadenocarcinoma(117;2.46e-25)|Colorectal(126;1.15e-07)|COAD - Colon adenocarcinoma(152;4.31e-06)|STAD - Stomach adenocarcinoma(196;0.00125)|BRCA - Breast invasive adenocarcinoma(304;0.00141)|KIRC - Kidney renal clear cell carcinoma(1967;0.00146)|GBM - Glioblastoma multiforme(114;0.0149)|READ - Rectum adenocarcinoma(331;0.0803)		AGCTATAAGCGTTATGCAATG	0.493																																						ENST00000374332.4																			0				NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(7)|pancreas(1)|prostate(1)|skin(2)	25						c.(571-573)cGt>cAt		mannosidase, alpha, class 1C, member 1							187	177	180					1																	26012962		2203	4300	6503	SO:0001583	missense	57134				post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity	g.chr1:26012962G>A	AF261655	CCDS265.1	1p35	2008-02-05			ENSG00000117643	ENSG00000117643			19080	protein-coding gene	gene with protein product						10915796	Standard	XM_005245945		Approved	HMIC	uc001bkm.2	Q9NR34	OTTHUMG00000004417	ENST00000374332.4:c.572G>A	1.37:g.26012962G>A	ENSP00000363452:p.Arg191His					MAN1C1_ENST00000263979.3_Missense_Mutation_p.R11H	p.R191H	NM_020379.2	NP_065112.1	Q9NR34	MA1C1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0574)|OV - Ovarian serous cystadenocarcinoma(117;2.46e-25)|Colorectal(126;1.15e-07)|COAD - Colon adenocarcinoma(152;4.31e-06)|STAD - Stomach adenocarcinoma(196;0.00125)|BRCA - Breast invasive adenocarcinoma(304;0.00141)|KIRC - Kidney renal clear cell carcinoma(1967;0.00146)|GBM - Glioblastoma multiforme(114;0.0149)|READ - Rectum adenocarcinoma(331;0.0803)	2	902	+		Colorectal(325;3.78e-05)|Lung NSC(340;0.000181)|all_lung(284;0.000245)|Renal(390;0.000714)|Ovarian(437;0.00159)|Breast(348;0.0156)|Myeloproliferative disorder(586;0.0257)|all_neural(195;0.0515)|Esophageal squamous(538;0.232)	191					A6NNE2|B2RNP2|Q9Y545	Missense_Mutation	SNP	ENST00000374332.4	37	c.572G>A	CCDS265.1	.	.	.	.	.	.	.	.	.	.	G	9.108	1.005836	0.19199	.	.	ENSG00000117643	ENST00000374332;ENST00000374331;ENST00000263979	T;T	0.72615	-0.67;-0.67	5.19	1.81	0.25067	.	0.556527	0.19258	N	0.118753	T	0.58609	0.2134	L	0.48986	1.54	0.80722	D	1	B	0.06786	0.001	B	0.04013	0.001	T	0.53056	-0.8492	10	0.62326	D	0.03	.	3.7958	0.08738	0.2112:0.0:0.578:0.2107	.	191	Q9NR34	MA1C1_HUMAN	H	191;11;11	ENSP00000363452:R191H;ENSP00000263979:R11H	ENSP00000263979:R11H	R	+	2	0	MAN1C1	25885549	0.566000	0.26618	0.238000	0.24106	0.653000	0.38743	0.775000	0.26689	0.222000	0.20900	0.563000	0.77884	CGT		0.493	MAN1C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012828.3	NM_020379		44	127	0	0	0	1	0	44	127					A	26012962	G	A	26012962	3	1	305	1	0	0	0	0	1	0	0	0	9213	1145	40	1	578	1	MAN1C1	1	26012962	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	2778334	26012962	223237659	22	14539											
PAQR7	164091	broad.mit.edu	37	chr1	26189723	26189723	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agggcacctcctggcatgtgCggcccagcaggcctggtttc	5	8	14	14	1	0	0	0	0	0	0	2	0	1	0	4	5	2	4	4	5	0	1	rs182757920		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:26189723C>T	ENST00000374296.3	-	2	1274	c.608G>A	c.(607-609)cGc>cAc	p.R203H	RP1-125I3.2_ENST00000455431.1_RNA	NM_178422.5	NP_848509.1	Q86WK9	MPRA_HUMAN	progestin and adipoQ receptor family member VII	203					multicellular organismal development (GO:0007275)|oogenesis (GO:0048477)|response to steroid hormone (GO:0048545)|steroid hormone mediated signaling pathway (GO:0043401)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)			breast(3)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	9		Colorectal(325;3.46e-05)|Lung NSC(340;0.00038)|all_lung(284;0.00051)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0505)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;2.16e-25)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000724)|BRCA - Breast invasive adenocarcinoma(304;0.000965)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0136)|READ - Rectum adenocarcinoma(331;0.0649)		CTGGCATGTGCGGCCCAGCAG	0.582													C|||	1	0.000199681	0	0.0014	5008	,	,		21958	0		0	False		,,,				2504	0				Esophageal Squamous(111;1206 1556 18433 19151 38418)	ENST00000374296.3																			0				breast(3)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	9						c.(607-609)cGc>cAc		progestin and adipoQ receptor family member VII							80	71	74					1																	26189723		2203	4300	6503	SO:0001583	missense	164091				cell differentiation|multicellular organismal development|oogenesis	integral to membrane|plasma membrane	receptor activity|steroid binding	g.chr1:26189723C>T		CCDS267.1	1p35.3	2012-08-10			ENSG00000182749	ENSG00000182749			23146	protein-coding gene	gene with protein product	"membrane progestin receptor alpha"	607779					Standard	NM_178422		Approved	mSR, MPRA	uc001bkx.3	Q86WK9	OTTHUMG00000007373	ENST00000374296.3:c.608G>A	1.37:g.26189723C>T	ENSP00000363414:p.Arg203His					RP1-125I3.2_ENST00000455431.1_RNA	p.R203H	NM_178422.5	NP_848509.1	Q86WK9	MPRA_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;2.16e-25)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000724)|BRCA - Breast invasive adenocarcinoma(304;0.000965)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0136)|READ - Rectum adenocarcinoma(331;0.0649)	2	1274	-		Colorectal(325;3.46e-05)|Lung NSC(340;0.00038)|all_lung(284;0.00051)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0505)	203					A2A2D3|Q5XKF9|Q86VE4	Missense_Mutation	SNP	ENST00000374296.3	37	c.608G>A	CCDS267.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	19.30	3.801692	0.70682	.	.	ENSG00000182749	ENST00000374296	T	0.36878	1.23	5.14	5.14	0.70334	.	0.065499	0.64402	D	0.000009	T	0.52322	0.1727	L	0.55481	1.735	0.38560	D	0.94968	D	0.89917	1.0	D	0.73380	0.98	T	0.56721	-0.7932	10	0.87932	D	0	-29.2732	11.0266	0.47748	0.0:0.9143:0.0:0.0857	.	203	Q86WK9	MPRA_HUMAN	H	203	ENSP00000363414:R203H	ENSP00000363414:R203H	R	-	2	0	PAQR7	26062310	1.000000	0.71417	1.000000	0.80357	0.900000	0.52787	0.815000	0.27253	2.666000	0.90696	0.655000	0.94253	CGC		0.582	PAQR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019312.1	NM_178422		27	58	0	0	0	1	0	27	58					T	26189723	C	T	26189723	3	4	305	1	0	0	0	0	1	0	0	0	11440	768	27	1	436	1	PAQR7	1	26189723	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	176761	26189723	223060898	23	14540											
ARID1A	8289	broad.mit.edu	37	chr1	27101370	27101370	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggccttcccatggcacacGccagcccccatatggtccct	6	8	9	18	1	0	0	0	0	0	0	2	0	2	0	6	3	1	1	6	3	1	2			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:27101370G>A	ENST00000324856.7	+	18	5023	c.4652G>A	c.(4651-4653)cGc>cAc	p.R1551H	ARID1A_ENST00000540690.1_Intron|ARID1A_ENST00000374152.2_Missense_Mutation_p.R1168H|ARID1A_ENST00000457599.2_Intron	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	1551					androgen receptor signaling pathway (GO:0030521)|ATP-dependent chromatin remodeling (GO:0043044)|cardiac chamber development (GO:0003205)|chromatin remodeling (GO:0006338)|chromatin-mediated maintenance of transcription (GO:0048096)|forebrain development (GO:0030900)|glucocorticoid receptor signaling pathway (GO:0042921)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|nucleosome disassembly (GO:0006337)|nucleosome mobilization (GO:0042766)|optic cup formation involved in camera-type eye development (GO:0003408)|placenta blood vessel development (GO:0060674)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|transcription coactivator activity (GO:0003713)		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		CATGGCACACGCCAGCCCCCA	0.612			"Mis, N, F, S, D"		"clear cell ovarian carcinoma, RCC"																																	ENST00000324856.7				Rec	yes		1	1p35.3	8289	"Mis, N, F, S, D"	AT rich interactive domain 1A (SWI-like)			E			"clear cell ovarian carcinoma, RCC"	ARID1A/MAST2_ENST00000361297(2)	0				NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411						c.(4651-4653)cGc>cAc		AT rich interactive domain 1A (SWI-like)							43	45	44					1																	27101370		2203	4298	6501	SO:0001583	missense	8289				androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding	g.chr1:27101370G>A	AB001895	CCDS285.1, CCDS44091.1	1p36.1-p35	2014-09-17	2006-11-08	2004-01-30	ENSG00000117713	ENSG00000117713		"-"	11110	protein-coding gene	gene with protein product		603024	"SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily f, member 1", "AT rich interactive domain 1A (SWI- like)"	C1orf4, SMARCF1		9630625, 9434167	Standard	NM_139135		Approved	B120, P270, C10rf4, BAF250, BAF250a	uc001bmv.1	O14497	OTTHUMG00000004004	ENST00000324856.7:c.4652G>A	1.37:g.27101370G>A	ENSP00000320485:p.Arg1551His					ARID1A_ENST00000457599.2_Intron|ARID1A_ENST00000540690.1_Intron|ARID1A_ENST00000374152.2_Missense_Mutation_p.R1168H	p.R1551H	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)	18	5023	+		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	1551					D3DPL1|Q53FK9|Q5T0W1|Q5T0W2|Q5T0W3|Q8NFD6|Q96T89|Q9BY33|Q9HBJ5|Q9UPZ1	Missense_Mutation	SNP	ENST00000324856.7	37	c.4652G>A	CCDS285.1	.	.	.	.	.	.	.	.	.	.	G	18.38	3.612012	0.66558	.	.	ENSG00000117713	ENST00000324856;ENST00000374152	T;T	0.03094	4.22;4.05	5.18	5.18	0.71444	.	0.108901	0.64402	D	0.000004	T	0.08492	0.0211	L	0.42245	1.32	0.80722	D	1	P;P;D	0.71674	0.669;0.703;0.998	B;B;P	0.55161	0.138;0.115;0.77	T	0.05484	-1.0882	10	0.46703	T	0.11	-7.1399	12.2365	0.54518	0.0772:0.0:0.9228:0.0	.	1168;1551;1204	O14497-3;O14497;Q4LE49	.;ARI1A_HUMAN;.	H	1551;1168	ENSP00000320485:R1551H;ENSP00000363267:R1168H	ENSP00000320485:R1551H	R	+	2	0	ARID1A	26973957	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	9.144000	0.94629	2.711000	0.92665	0.563000	0.77884	CGC		0.612	ARID1A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000011437.2	NM_139135		20	61	0	0	0	1	0	20	61					A	27101370	G	A	27101370	3	1	305	1	0	0	0	0	1	0	0	0	913	1087	38	1	4722	1	ARID1A	1	27101370	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	911647	27101370	222149251	24	14541											
WDTC1	23038	broad.mit.edu	37	chr1	27630137	27630137	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagaagggacctggtggcggCgccccagtccgcctccgcag	7	4	15	15	4	0	1	0	0	0	1	2	2	2	2	6	4	0	1	6	4	2	0			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:27630137C>T	ENST00000319394.3	+	14	2029	c.1494C>T	c.(1492-1494)ggC>ggT	p.G498G	WDTC1_ENST00000361771.3_Silent_p.G497G	NM_001276252.1|NM_015023.3	NP_001263181.1|NP_055838.2	Q8N5D0	WDTC1_HUMAN	WD and tetratricopeptide repeats 1	498					cellular chemical homeostasis (GO:0055082)|cellular response to insulin stimulus (GO:0032869)|glucose metabolic process (GO:0006006)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|negative regulation of fatty acid biosynthetic process (GO:0045717)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|protein ubiquitination (GO:0016567)|regulation of cell size (GO:0008361)	cytosol (GO:0005829)|nucleus (GO:0005634)	enzyme inhibitor activity (GO:0004857)			central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|skin(1)	21		all_cancers(24;3.12e-19)|all_epithelial(13;4.18e-18)|Colorectal(325;0.000147)|all_lung(284;0.000366)|Lung NSC(340;0.000548)|Renal(390;0.00211)|Breast(348;0.00257)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0443)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-27)|Colorectal(126;8.83e-09)|COAD - Colon adenocarcinoma(152;1.02e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000544)|KIRC - Kidney renal clear cell carcinoma(1967;0.00201)|STAD - Stomach adenocarcinoma(196;0.00321)|READ - Rectum adenocarcinoma(331;0.0476)		CTGGTGGCGGCGCCCCAGTCC	0.592																																						ENST00000319394.3																			0				central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|skin(1)	21						c.(1492-1494)ggC>ggT		WD and tetratricopeptide repeats 1							30	34	33					1																	27630137		2201	4292	6493	SO:0001819	synonymous_variant	23038						protein binding	g.chr1:27630137C>T	AK023778	CCDS296.1, CCDS60044.1	1p35.3	2013-01-11			ENSG00000142784	ENSG00000142784		"DDB1 and CUL4 associated factors", "WD repeat domain containing", "Tetratricopeptide (TTC) repeat domain containing"	29175	protein-coding gene	gene with protein product	"adipose homolog (Drosophila)", "DDB1 and CUL4 associated factor 9"					12717455, 19238144	Standard	NM_015023		Approved	KIAA1037, ADP, DCAF9	uc009vst.3	Q8N5D0	OTTHUMG00000004273	ENST00000319394.3:c.1494C>T	1.37:g.27630137C>T						WDTC1_ENST00000361771.3_Silent_p.G497G	p.G498G	NM_001276252.1|NM_015023.3	NP_001263181.1|NP_055838.2	Q8N5D0	WDTC1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0443)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-27)|Colorectal(126;8.83e-09)|COAD - Colon adenocarcinoma(152;1.02e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000544)|KIRC - Kidney renal clear cell carcinoma(1967;0.00201)|STAD - Stomach adenocarcinoma(196;0.00321)|READ - Rectum adenocarcinoma(331;0.0476)	14	2029	+		all_cancers(24;3.12e-19)|all_epithelial(13;4.18e-18)|Colorectal(325;0.000147)|all_lung(284;0.000366)|Lung NSC(340;0.000548)|Renal(390;0.00211)|Breast(348;0.00257)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)	498					D3DPL5|Q5SSC5|Q9NV87|Q9UPW4	Silent	SNP	ENST00000319394.3	37	c.1494C>T																																																																																					0.592	WDTC1-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015023		25	61	0	0	0	1	0	25	61					T	27630137	C	T	27630137	2	4	305	1	0	0	0	0	0	0	0	1	17339	755	27	1		1	WDTC1	1	27630137	Silent	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	528767	27630137	221620484	25	14542											
AHDC1	27245	broad.mit.edu	37	chr1	27873946	27873946	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tgggtacctgtaggcggtgtCctgcaggggcagcagcgagt	6	8	18	9	2	0	0	0	0	0	0	1	1	1	0	2	5	4	5	2	5	2	2			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:27873946C>T	ENST00000247087.5	-	5	5277	c.4681G>A	c.(4681-4683)Gac>Aac	p.D1561N	AHDC1_ENST00000374011.2_Missense_Mutation_p.D1561N			Q5TGY3	AHDC1_HUMAN	AT hook, DNA binding motif, containing 1	1561							DNA binding (GO:0003677)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;8.48e-25)|Colorectal(126;9.17e-09)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00192)|BRCA - Breast invasive adenocarcinoma(304;0.00259)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0291)		TAGGCGGTGTCCTGCAGGGGC	0.692																																						ENST00000374011.2																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42						c.(4681-4683)Gac>Aac		AT hook, DNA binding motif, containing 1							38	46	43					1																	27873946		2203	4300	6503	SO:0001583	missense	27245						DNA binding	g.chr1:27873946C>T	AK125431	CCDS30652.1	1p36.13	2008-02-05			ENSG00000126705	ENSG00000126705			25230	protein-coding gene	gene with protein product		615790				8619474, 9110174	Standard	XM_005245848		Approved	DJ159A19.3, RP1-159A19.1	uc009vsy.3	Q5TGY3	OTTHUMG00000003398	ENST00000247087.5:c.4681G>A	1.37:g.27873946C>T	ENSP00000247087:p.Asp1561Asn					AHDC1_ENST00000482400.2_Intron|AHDC1_ENST00000247087.5_Missense_Mutation_p.D1561N	p.D1561N	NM_001029882.2	NP_001025053.1	Q5TGY3	AHDC1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;8.48e-25)|Colorectal(126;9.17e-09)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00192)|BRCA - Breast invasive adenocarcinoma(304;0.00259)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0291)	6	5649	-		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	1561					Q5TGY4|Q6PJK1|Q6ZUQ6|Q99769|Q9NUF5	Missense_Mutation	SNP	ENST00000247087.5	37	c.4681G>A	CCDS30652.1	.	.	.	.	.	.	.	.	.	.	C	16.22	3.061489	0.55432	.	.	ENSG00000126705	ENST00000247087;ENST00000374011	T;T	0.55930	0.49;0.49	5.33	5.33	0.75918	.	0.372753	0.26362	N	0.024813	T	0.58366	0.2117	N	0.24115	0.695	0.44214	D	0.997049	D	0.64830	0.994	P	0.60886	0.88	T	0.63559	-0.6610	10	0.87932	D	0	-16.1337	17.7973	0.88577	0.0:1.0:0.0:0.0	.	1561	Q5TGY3	AHDC1_HUMAN	N	1561	ENSP00000247087:D1561N;ENSP00000363123:D1561N	ENSP00000247087:D1561N	D	-	1	0	AHDC1	27746533	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	5.270000	0.65547	2.518000	0.84900	0.557000	0.71058	GAC		0.692	AHDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009523.3			7	125	0	0	0	1	0	7	125					T	27873946	C	T	27873946	3	4	305	1	0	0	0	0	1	0	0	0	412	855	30	3	134	3	AHDC1	1	27873946	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	243809	27873946	221376675	26	14543											
XKR8	55113	broad.mit.edu	37	chr1	28290024	28290024	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctaggtgcgtgcaggagctgCggcaggggctgctggtgtgg	4	8	21	8	2	0	0	0	0	0	0	0	1	0	1	0	7	5	5	0	7	1	1			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:28290024C>T	ENST00000373884.5	+	2	918	c.310C>T	c.(310-312)Cgg>Tgg	p.R104W		NM_018053.2	NP_060523.2	Q9H6D3	XKR8_HUMAN	XK, Kell blood group complex subunit-related family, member 8	104					engulfment of apoptotic cell (GO:0043652)|phosphatidylserine exposure on apoptotic cell surface (GO:0070782)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(1)|large_intestine(2)|lung(1)	4		Colorectal(325;0.000147)|Renal(390;0.00357)|Lung NSC(340;0.00588)|all_lung(284;0.00645)|Breast(348;0.0174)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0545)|all_neural(195;0.0557)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;4.72e-24)|Colorectal(126;1.52e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00269)|STAD - Stomach adenocarcinoma(196;0.00303)|BRCA - Breast invasive adenocarcinoma(304;0.00572)|READ - Rectum adenocarcinoma(331;0.0526)		GCAGGAGCTGCGGCAGGGGCT	0.607																																						ENST00000373884.5																			0				endometrium(1)|large_intestine(2)|lung(1)	4						c.(310-312)Cgg>Tgg		XK, Kell blood group complex subunit-related family, member 8							44	43	43					1																	28290024		2201	4298	6499	SO:0001583	missense	55113					integral to membrane		g.chr1:28290024C>T	AK091615	CCDS315.1	1p35.3	2008-02-05	2006-01-12		ENSG00000158156	ENSG00000158156			25508	protein-coding gene	gene with protein product			"X Kell blood group precursor-related family, member 8"			12477932	Standard	NM_018053		Approved	FLJ10307	uc001bph.1	Q9H6D3	OTTHUMG00000003912	ENST00000373884.5:c.310C>T	1.37:g.28290024C>T	ENSP00000362991:p.Arg104Trp						p.R104W	NM_018053.2	NP_060523.2	Q9H6D3	XKR8_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;4.72e-24)|Colorectal(126;1.52e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00269)|STAD - Stomach adenocarcinoma(196;0.00303)|BRCA - Breast invasive adenocarcinoma(304;0.00572)|READ - Rectum adenocarcinoma(331;0.0526)	2	918	+		Colorectal(325;0.000147)|Renal(390;0.00357)|Lung NSC(340;0.00588)|all_lung(284;0.00645)|Breast(348;0.0174)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0545)|all_neural(195;0.0557)	104						Missense_Mutation	SNP	ENST00000373884.5	37	c.310C>T	CCDS315.1	.	.	.	.	.	.	.	.	.	.	C	11.36	1.615418	0.28801	.	.	ENSG00000158156	ENST00000373884	T	0.64085	-0.08	5.55	3.49	0.39957	.	1.062310	0.07246	N	0.865113	T	0.59595	0.2205	M	0.66939	2.045	0.09310	N	1	B	0.20780	0.048	B	0.17098	0.017	T	0.49322	-0.8952	10	0.38643	T	0.18	.	7.1428	0.25566	0.1641:0.6606:0.0973:0.078	.	104	Q9H6D3	XKR8_HUMAN	W	104	ENSP00000362991:R104W	ENSP00000362991:R104W	R	+	1	2	XKR8	28162611	0.000000	0.05858	0.595000	0.28798	0.874000	0.50279	0.490000	0.22403	1.368000	0.46115	0.650000	0.86243	CGG		0.607	XKR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011175.1	NM_018053		15	63	0	0	0	1	0	15	63					T	28290024	C	T	28290024	3	4	305	1	0	0	0	0	1	0	0	0	17434	759	27	1	316	1	XKR8	1	28290024	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	416078	28290024	220960597	27	14544											
YTHDF2	51441	broad.mit.edu	37	chr1	29069851	29069851	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgggtagcacctcggaacCgtggcagtgggttcggtcat	6	9	16	10	3	1	0	1	0	0	0	3	1	1	1	2	5	2	5	2	5	2	2			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:29069851C>T	ENST00000373812.3	+	4	1431	c.1069C>T	c.(1069-1071)Cgt>Tgt	p.R357C	YTHDF2_ENST00000541996.1_Missense_Mutation_p.R307C|YTHDF2_ENST00000478283.1_3'UTR|YTHDF2_ENST00000542507.1_Missense_Mutation_p.R357C	NM_016258.2	NP_057342.2	Q9Y5A9	YTHD2_HUMAN	YTH domain family, member 2	357	Localization to mRNA processing bodies (P-bodies).				humoral immune response (GO:0006959)|regulation of mRNA stability (GO:0043488)	cytoplasmic mRNA processing body (GO:0000932)	N6-methyladenosine-containing RNA binding (GO:1990247)|poly(A) RNA binding (GO:0044822)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Colorectal(325;3.46e-05)|Lung NSC(340;0.000601)|all_lung(284;0.000771)|Breast(348;0.00502)|Renal(390;0.00758)|all_neural(195;0.0227)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;5.46e-06)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0221)|KIRC - Kidney renal clear cell carcinoma(1967;0.0296)|READ - Rectum adenocarcinoma(331;0.0649)		ACCTCGGAACCGTGGCAGTGG	0.582																																						ENST00000373812.3																			0				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						c.(1069-1071)Cgt>Tgt		YTH domain family, member 2							106	105	105					1																	29069851		2005	4188	6193	SO:0001583	missense	51441				humoral immune response			g.chr1:29069851C>T	AF155095	CCDS41296.1, CCDS53287.1	1p35	2008-02-05	2004-11-16		ENSG00000198492	ENSG00000198492			31675	protein-coding gene	gene with protein product		610640	"YTH domain family 2"			10508479	Standard	NM_016258		Approved	HGRG8, NY-REN-2	uc021okf.1	Q9Y5A9	OTTHUMG00000003648	ENST00000373812.3:c.1069C>T	1.37:g.29069851C>T	ENSP00000362918:p.Arg357Cys					YTHDF2_ENST00000478283.1_3'UTR|YTHDF2_ENST00000542507.1_Missense_Mutation_p.R357C|YTHDF2_ENST00000541996.1_Missense_Mutation_p.R307C	p.R357C	NM_016258.2	NP_057342.2	Q9Y5A9	YTHD2_HUMAN		Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;5.46e-06)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0221)|KIRC - Kidney renal clear cell carcinoma(1967;0.0296)|READ - Rectum adenocarcinoma(331;0.0649)	4	1431	+		Colorectal(325;3.46e-05)|Lung NSC(340;0.000601)|all_lung(284;0.000771)|Breast(348;0.00502)|Renal(390;0.00758)|all_neural(195;0.0227)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)	357					A6NKG4|A8K966|B4E1G7|D3DPM8|Q5VSZ9|Q8TDH0|Q9BUJ5	Missense_Mutation	SNP	ENST00000373812.3	37	c.1069C>T	CCDS41296.1	.	.	.	.	.	.	.	.	.	.	C	16.18	3.049298	0.55218	.	.	ENSG00000198492	ENST00000542507;ENST00000373812;ENST00000541996;ENST00000396232	T;T;T	0.59224	0.28;0.28;0.28	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	T	0.72211	0.3432	M	0.61703	1.905	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79784	0.993;0.993	T	0.70655	-0.4812	9	.	.	.	.	13.9701	0.64235	0.1518:0.8482:0.0:0.0	.	357;357	B5BU99;Q9Y5A9	.;YTHD2_HUMAN	C	357;357;307;357	ENSP00000444660:R357C;ENSP00000362918:R357C;ENSP00000439394:R307C	.	R	+	1	0	YTHDF2	28942438	0.997000	0.39634	1.000000	0.80357	1.000000	0.99986	1.459000	0.35234	2.802000	0.96397	0.655000	0.94253	CGT		0.582	YTHDF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010335.1	NM_016258		7	178	0	0	0	1	0	7	178					T	29069851	C	T	29069851	3	4	305	1	0	0	0	0	1	0	0	0	17496	652	23	2	1083	2	YTHDF2	1	29069851	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	779827	29069851	220180770	28	14545											
SDC3	9672	broad.mit.edu	37	chr1	31347383	31347383	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cactgggccccccactcaccGgaacctctggctcatcccgg	6	6	9	20	2	3	0	2	0	1	0	4	1	4	1	6	4	1	1	6	4	1	0	rs374473992		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:31347383G>A	ENST00000339394.6	-	4	1097	c.923C>T	c.(922-924)cCg>cTg	p.P308L	SDC3_ENST00000336798.7_Missense_Mutation_p.P250L|SDC3_ENST00000471567.1_5'Flank	NM_014654.3	NP_055469.3	O75056	SDC3_HUMAN	syndecan 3	308					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|extracellular matrix organization (GO:0030198)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|plasma membrane (GO:0005886)				NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Myeloproliferative disorder(586;0.0393)|Colorectal(325;0.0466)|all_neural(195;0.0966)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)		STAD - Stomach adenocarcinoma(196;0.0197)|READ - Rectum adenocarcinoma(331;0.0649)		CCCACTCACCGGAACCTCTGG	0.602																																						ENST00000336798.7																			0				NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(748-750)cCg>cTg		syndecan 3		G	LEU/PRO	0,4406		0,0,2203	110	112	111		923	4.8	1	1		111	1,8599	1.2+/-3.3	0,1,4299	no	missense	SDC3	NM_014654.3	98	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	308/443	31347383	1,13005	2203	4300	6503	SO:0001583	missense	9672					integral to membrane	cytoskeletal protein binding	g.chr1:31347383G>A	AF248634	CCDS30661.1	1p35.2	2013-09-19	2007-02-15		ENSG00000162512	ENSG00000162512		"Proteoglycans / Cell Surface : Syndecans"	10660	protein-coding gene	gene with protein product	"syndecan proteoglycan 3"	186357	"syndecan 3 (N-syndecan)"			1556152, 11527150	Standard	NM_014654		Approved	N-syndecan, SYND3	uc001bse.2	O75056	OTTHUMG00000043646	ENST00000339394.6:c.923C>T	1.37:g.31347383G>A	ENSP00000344468:p.Pro308Leu					SDC3_ENST00000339394.6_Missense_Mutation_p.P308L	p.P250L			O75056	SDC3_HUMAN		STAD - Stomach adenocarcinoma(196;0.0197)|READ - Rectum adenocarcinoma(331;0.0649)	2	2241	-		Myeloproliferative disorder(586;0.0393)|Colorectal(325;0.0466)|all_neural(195;0.0966)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)	308			Ser/Thr-rich (mucin-like).		Q5T1Z6|Q5T1Z7|Q96CT3|Q96PR8	Missense_Mutation	SNP	ENST00000339394.6	37	c.749C>T	CCDS30661.1	.	.	.	.	.	.	.	.	.	.	G	24.7	4.560751	0.86335	0.0	1.16E-4	ENSG00000162512	ENST00000336798;ENST00000339394	T;T	0.49139	1.27;0.79	4.84	4.84	0.62591	.	0.000000	0.64402	D	0.000007	T	0.57489	0.2057	L	0.27053	0.805	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.73380	0.96;0.98	T	0.62558	-0.6829	10	0.72032	D	0.01	-9.8479	18.1363	0.89620	0.0:0.0:1.0:0.0	.	308;250	O75056;D3DPN2	SDC3_HUMAN;.	L	250;308	ENSP00000338346:P250L;ENSP00000344468:P308L	ENSP00000338346:P250L	P	-	2	0	SDC3	31119970	1.000000	0.71417	0.986000	0.45419	0.897000	0.52465	6.933000	0.75874	2.535000	0.85469	0.563000	0.77884	CCG		0.602	SDC3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102017.1	NM_014654		40	101	0	0	0	1	0	40	101					A	31347383	G	A	31347383	3	1	305	1	0	0	0	0	1	0	0	0	13953	1116	39	2	413	2	SDC3	1	31347383	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	2277532	31347383	217903238	29	14546											
TINAGL1	64129	broad.mit.edu	37	chr1	32050601	32050601	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagggctgccgcggtgggcGtctcgatggtgcctggtggt	2	9	20	10	4	1	0	0	0	1	0	2	1	1	0	2	6	2	2	2	6	0	0	rs566858151	byFrequency	TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:32050601G>A	ENST00000271064.7	+	7	897	c.821G>A	c.(820-822)cGt>cAt	p.R274H	TINAGL1_ENST00000537531.1_3'UTR|TINAGL1_ENST00000481165.1_3'UTR|TINAGL1_ENST00000457433.2_Missense_Mutation_p.R243H	NM_001204415.1|NM_022164.2	NP_001191344.1|NP_071447.1	Q9GZM7	TINAL_HUMAN	tubulointerstitial nephritis antigen-like 1	274					endosomal transport (GO:0016197)|immune response (GO:0006955)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	cysteine-type peptidase activity (GO:0008234)|extracellular matrix structural constituent (GO:0005201)|polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)			breast(2)|central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(4)|prostate(1)|skin(3)|urinary_tract(1)	18		Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		STAD - Stomach adenocarcinoma(196;0.0526)|READ - Rectum adenocarcinoma(331;0.145)		CGCGGTGGGCGTCTCGATGGT	0.642													G|||	2	0.000399361	0	0.0014	5008	,	,		19117	0		0	False		,,,				2504	0.001					ENST00000271064.7																			0				breast(2)|central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(4)|prostate(1)|skin(3)|urinary_tract(1)	18						c.(820-822)cGt>cAt		tubulointerstitial nephritis antigen-like 1							64	67	66					1																	32050601		2203	4300	6503	SO:0001583	missense	64129				endosome transport|immune response|proteolysis	extracellular region	cysteine-type endopeptidase activity|extracellular matrix structural constituent|polysaccharide binding|scavenger receptor activity	g.chr1:32050601G>A	AB050716	CCDS343.1, CCDS55586.1, CCDS72745.1	1p34.3	2014-04-22	2005-08-18	2005-08-18	ENSG00000142910	ENSG00000142910			19168	protein-coding gene	gene with protein product			"lipocalin 7", "TINAG-like 1"	LCN7		11170462	Standard	NM_022164		Approved	P3ECSL, LIECG3, ARG1, TINAGRP	uc001bta.3	Q9GZM7	OTTHUMG00000003884	ENST00000271064.7:c.821G>A	1.37:g.32050601G>A	ENSP00000271064:p.Arg274His					TINAGL1_ENST00000537531.1_3'UTR|TINAGL1_ENST00000481165.1_3'UTR|TINAGL1_ENST00000457433.2_Missense_Mutation_p.R243H	p.R274H	NM_001204415.1|NM_022164.2	NP_001191344.1|NP_071447.1	Q9GZM7	TINAL_HUMAN		STAD - Stomach adenocarcinoma(196;0.0526)|READ - Rectum adenocarcinoma(331;0.145)	7	897	+		Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)	274					A8K9Q5|B4DPK6|D3DPN8|Q8TEJ9|Q8WZ23|Q96GZ4|Q96JW3	Missense_Mutation	SNP	ENST00000271064.7	37	c.821G>A	CCDS343.1	.	.	.	.	.	.	.	.	.	.	g	7.198	0.592865	0.13875	.	.	ENSG00000142910	ENST00000457433;ENST00000271064;ENST00000403321	D;D	0.83837	-1.77;-1.77	5.05	-0.0355	0.13892	Peptidase C1A, papain C-terminal (2);	0.097480	0.64402	N	0.000001	T	0.64057	0.2564	N	0.12502	0.225	0.80722	D	1	B;B	0.24043	0.096;0.05	B;B	0.21151	0.024;0.033	T	0.45512	-0.9256	10	0.25751	T	0.34	.	9.7021	0.40194	0.3456:0.0:0.6544:0.0	.	243;274	B4DPK6;Q9GZM7	.;TINAL_HUMAN	H	243;274;262	ENSP00000395137:R243H;ENSP00000271064:R274H	ENSP00000271064:R274H	R	+	2	0	TINAGL1	31823188	0.658000	0.27402	0.057000	0.19452	0.957000	0.61999	1.055000	0.30467	-0.193000	0.10415	-0.424000	0.05967	CGT		0.642	TINAGL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011072.1	NM_022164		33	101	0	0	0	1	0	33	101					A	32050601	G	A	32050601	3	1	305	1	0	0	0	0	1	0	0	0	15919	1145	40	1	843	1	TINAGL1	1	32050601	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	703218	32050601	217200020	30	14547											
COL16A1	1307	broad.mit.edu	37	chr1	32130816	32130816	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ggccaggtgatccaactttgCctgggaatccagggggaccc	8	7	14	12	0	0	1	0	1	0	0	2	3	2	3	5	5	2	0	5	5	2	1			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:32130816C>A	ENST00000373672.3	-	56	4028	c.3512G>T	c.(3511-3513)gGc>gTc	p.G1171V	COL16A1_ENST00000271069.6_Missense_Mutation_p.G1171V	NM_001856.3	NP_001847.3	Q07092	COGA1_HUMAN	collagen, type XVI, alpha 1	1171	Triple-helical region 2 (COL2) with 2 imperfections.				cell adhesion (GO:0007155)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|female pregnancy (GO:0007565)|integrin-mediated signaling pathway (GO:0007229)	collagen type XVI trimer (GO:0005597)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	integrin binding (GO:0005178)			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(15)|ovary(8)|prostate(4)	48		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0423)|all_neural(195;0.0837)|Breast(348;0.116)		STAD - Stomach adenocarcinoma(196;0.059)		TCCAACTTTGCCTGGGAATCC	0.577																																					Colon(143;498 1786 21362 25193 36625)	ENST00000373672.3																			0				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(15)|ovary(8)|prostate(4)	48						c.(3511-3513)gGc>gTc		collagen, type XVI, alpha 1							114	114	114					1																	32130816		1933	4118	6051	SO:0001583	missense	1307				cell adhesion|female pregnancy|integrin-mediated signaling pathway	collagen type XVI	integrin binding|structural molecule activity	g.chr1:32130816C>A	M92642	CCDS41297.1	1p35-p34	2013-01-16			ENSG00000084636	ENSG00000084636		"Collagens"	2193	protein-coding gene	gene with protein product		120326				1631157	Standard	NM_001856		Approved		uc001btk.1	Q07092	OTTHUMG00000003883	ENST00000373672.3:c.3512G>T	1.37:g.32130816C>A	ENSP00000362776:p.Gly1171Val					COL16A1_ENST00000271069.6_Missense_Mutation_p.G1171V	p.G1171V	NM_001856.3	NP_001847.3	Q07092	COGA1_HUMAN		STAD - Stomach adenocarcinoma(196;0.059)	56	4028	-		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0423)|all_neural(195;0.0837)|Breast(348;0.116)	1171			Triple-helical region 2 (COL2) with 2 imperfections.		Q16593|Q59F89|Q71RG9	Missense_Mutation	SNP	ENST00000373672.3	37	c.3512G>T	CCDS41297.1	.	.	.	.	.	.	.	.	.	.	C	16.18	3.051504	0.55218	.	.	ENSG00000084636	ENST00000373672;ENST00000271069;ENST00000440437	D;D;D	0.99637	-6.29;-6.29;-6.29	4.86	4.86	0.63082	.	0.000000	0.85682	D	0.000000	D	0.99792	0.9912	H	0.98005	4.125	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	D	0.96840	0.9617	10	0.87932	D	0	.	15.2827	0.73801	0.0:1.0:0.0:0.0	.	1171;1169	Q07092;Q07092-2	COGA1_HUMAN;.	V	1171;1171;52	ENSP00000362776:G1171V;ENSP00000271069:G1171V;ENSP00000390281:G52V	ENSP00000271069:G1171V	G	-	2	0	COL16A1	31903403	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	5.152000	0.64882	2.389000	0.81357	0.563000	0.77884	GGC		0.577	COL16A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011057.2	NM_001856		10	120	1	0	4.68919e-08	1	4.84132e-08	10	120					A	32130816	C	A	32130816	3	1	305	1	0	0	0	0	1	0	0	0	3673	739	26	5	1366	5	COL16A1	1	32130816	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	80215	32130816	217119805	31	14548											
KIAA1522	57648	broad.mit.edu	37	chr1	33233495	33233495	+	Frame_Shift_Del	DEL	C	C	-																															tcttctttcccagtgggcgaCccccccacctggaagagctg																										TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:33233495delC	ENST00000373480.1	+	2	269	c.166delC	c.(166-168)cccfs	p.P57fs	KIAA1522_ENST00000401073.2_Frame_Shift_Del_p.P116fs|KIAA1522_ENST00000373481.3_Frame_Shift_Del_p.P68fs|KIAA1522_ENST00000294521.3_Frame_Shift_Del_p.P57fs	NM_001198972.1	NP_001185901.1	Q9P206	K1522_HUMAN	KIAA1522	57			P -> S (in dbSNP:rs11803515).							breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)				CAGTGGGCGACCCCCCCACCT	0.612																																						ENST00000401073.2																			0				breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	24						c.(343-345)ccfs		KIAA1522							60	67	65					1																	33233495		1985	4150	6135	SO:0001589	frameshift_variant	57648							g.chr1:33233495delC	AL713671	CCDS41298.1, CCDS55588.1, CCDS55589.1	1p35.1	2009-02-18			ENSG00000162522	ENSG00000162522			29301	protein-coding gene	gene with protein product						10819331	Standard	NM_020888		Approved		uc001bvu.1	Q9P206	OTTHUMG00000008088	ENST00000373480.1:c.166delC	1.37:g.33233495delC	ENSP00000362579:p.Pro57fs					KIAA1522_ENST00000294521.3_Frame_Shift_Del_p.P57fs|KIAA1522_ENST00000373481.3_Frame_Shift_Del_p.P68fs|KIAA1522_ENST00000373480.1_Frame_Shift_Del_p.P57fs	p.P116fs	NM_020888.2	NP_065939.2	Q9P206	K1522_HUMAN			2	413	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)	57					B4DQU8|B5MDY0|C9JH84|Q8TCQ0	Frame_Shift_Del	DEL	ENST00000373480.1	37	c.343delC	CCDS55588.1																																																																																				0.612	KIAA1522-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000022130.1			28	90						28	90	---	---	---	---	-	33233495	C	-	33233495	7	5	305	1	0	1	0	1	0	0	0	0	8238	507	18	0	349	0	KIAA1522	1	33233495	Frame_Shift_Del	DEL	C	TCGA-KK-A59V-01A-11D-A29Q-08	1102679	33233495	216017126	32	14549											
PHC2	1912	broad.mit.edu	37	chr1	33799804	33799804	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	accattctggggggcagtgcCggcgatgctggaggcagagt	7	7	18	9	2	1	1	0	0	1	1	1	3	1	2	2	6	2	3	2	6	0	1			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:33799804C>T	ENST00000257118.5	-	9	1698	c.1645G>A	c.(1645-1647)Ggc>Agc	p.G549S	PHC2_ENST00000373416.1_Missense_Mutation_p.G14S|PHC2_ENST00000373422.3_Missense_Mutation_p.G155S|PHC2_ENST00000431992.1_Missense_Mutation_p.G520S|PHC2_ENST00000419414.2_Missense_Mutation_p.G550S|PHC2_ENST00000373418.3_Missense_Mutation_p.G14S|MIR3605_ENST00000583214.1_RNA|RN7SKP16_ENST00000410180.1_RNA|PHC2_ENST00000485928.1_5'UTR	NM_198040.2	NP_932157.1	Q8IXK0	PHC2_HUMAN	polyhomeotic homolog 2 (Drosophila)	549					multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	heterochromatin (GO:0000792)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				GGGGCAGTGCCGGCGATGCTG	0.582																																						ENST00000257118.5																			0				autonomic_ganglia(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	31						c.(1645-1647)Ggc>Agc		polyhomeotic homolog 2 (Drosophila)							138	133	135					1																	33799804		2203	4300	6503	SO:0001583	missense	1912				multicellular organismal development	PcG protein complex	DNA binding|identical protein binding|zinc ion binding	g.chr1:33799804C>T	AJ419231	CCDS378.1, CCDS379.1	1p34.3	2013-01-10	2006-09-12	2002-11-15	ENSG00000134686	ENSG00000134686		"Sterile alpha motif (SAM) domain containing"	3183	protein-coding gene	gene with protein product		602979	"early development regulator 2 (homolog of polyhomeotic 2)", "polyhomeotic-like 2 (Drosophila)"	EDR2		9121482, 12384788	Standard	NM_198040		Approved	HPH2	uc001bxg.1	Q8IXK0	OTTHUMG00000004133	ENST00000257118.5:c.1645G>A	1.37:g.33799804C>T	ENSP00000257118:p.Gly549Ser					PHC2_ENST00000373418.3_Missense_Mutation_p.G14S|PHC2_ENST00000373416.1_Missense_Mutation_p.G14S|PHC2_ENST00000373422.3_Missense_Mutation_p.G155S|PHC2_ENST00000485928.1_5'UTR|PHC2_ENST00000419414.2_Missense_Mutation_p.G550S|PHC2_ENST00000431992.1_Missense_Mutation_p.G520S	p.G549S	NM_198040.2	NP_932157.1	Q8IXK0	PHC2_HUMAN			9	1698	-		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)	549					A1L4Q1|A8KA40|D3DPR2|Q2TAL3|Q5T0C1|Q6NUJ6|Q6ZQR1|Q8N306|Q8TAG8|Q96BL4|Q9Y4Y7	Missense_Mutation	SNP	ENST00000257118.5	37	c.1645G>A	CCDS378.1	.	.	.	.	.	.	.	.	.	.	C	32	5.177473	0.94846	.	.	ENSG00000134686	ENST00000431992;ENST00000257118;ENST00000373422;ENST00000373418;ENST00000307890;ENST00000419414;ENST00000373416	T;T;T;T;T;T	0.40756	1.02;1.02;1.02;1.02;1.02;1.02	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.60534	0.2276	M	0.68952	2.095	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	T	0.52019	-0.8631	10	0.06891	T	0.86	-6.7648	18.3732	0.90420	0.0:1.0:0.0:0.0	.	550;521;549	A8KA40;B7ZLY0;Q8IXK0	.;.;PHC2_HUMAN	S	520;549;155;14;128;550;14	ENSP00000389436:G520S;ENSP00000257118:G549S;ENSP00000362521:G155S;ENSP00000362517:G14S;ENSP00000391440:G550S;ENSP00000362515:G14S	ENSP00000257118:G549S	G	-	1	0	PHC2	33572391	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.777000	0.47717	2.941000	0.99782	0.655000	0.94253	GGC		0.582	PHC2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000011895.1	NM_198040		51	109	0	0	0	1	0	51	109					T	33799804	C	T	33799804	3	4	305	1	0	0	0	0	1	0	0	0	11817	652	23	2	955	2	PHC2	1	33799804	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	566309	33799804	215450817	33	14550											
ZMYM1	79830	broad.mit.edu	37	chr1	35579045	35579045	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtgatggagctgtcagtgaCgatttatctattcattcgaa	10	15	10	6	2	3	2	2	2	1	0	4	5	3	3	0	1	1	1	0	1	3	5			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:35579045C>T	ENST00000373330.1	+	11	1788	c.1614C>T	c.(1612-1614)gaC>gaT	p.D538D	ZMYM1_ENST00000373329.1_3'UTR|ZMYM1_ENST00000359858.4_Silent_p.D538D			Q5SVZ6	ZMYM1_HUMAN	zinc finger, MYM-type 1	538						nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(8)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				CTGTCAGTGACGATTTATCTA	0.313																																						ENST00000373330.1																			0				NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(8)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	31						c.(1612-1614)gaC>gaT		zinc finger, MYM-type 1							108	108	108					1																	35579045		1808	4087	5895	SO:0001819	synonymous_variant	79830					nucleus	nucleic acid binding|protein dimerization activity|zinc ion binding	g.chr1:35579045C>T	AK096206	CCDS41302.1	1p34.3	2008-05-02	2005-09-12		ENSG00000197056	ENSG00000197056		"Zinc fingers, MYM type"	26253	protein-coding gene	gene with protein product			"zinc finger, MYM domain containing 1"			12477932	Standard	XM_005271216		Approved	FLJ23151, MYM	uc001bym.3	Q5SVZ6	OTTHUMG00000004374	ENST00000373330.1:c.1614C>T	1.37:g.35579045C>T						ZMYM1_ENST00000373329.1_3'UTR|ZMYM1_ENST00000359858.4_Silent_p.D538D	p.D538D			Q5SVZ6	ZMYM1_HUMAN			11	1788	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)	538					D3DPR7|Q7Z3Q4	Silent	SNP	ENST00000373330.1	37	c.1614C>T	CCDS41302.1																																																																																				0.313	ZMYM1-001	NOVEL	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012705.1	NM_024772		4	173	0	0	0	1	0	4	173					T	35579045	C	T	35579045	2	4	305	1	0	0	0	0	0	0	0	1	17696	535	19	1		1	ZMYM1	1	35579045	Silent	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	1779241	35579045	213671576	34	14551											
KIAA0319L	79932	broad.mit.edu	37	chr1	35916052	35916052	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccatccagctctgctgtgctCgtgggtagggtaatcaccac	7	10	11	13	1	2	0	1	0	1	0	4	0	3	0	3	2	3	5	3	2	2	2			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:35916052C>T	ENST00000325722.3	-	14	2355	c.2121G>A	c.(2119-2121)acG>acA	p.T707T	KIAA0319L_ENST00000485551.1_5'UTR|KIAA0319L_ENST00000373266.4_Silent_p.T144T	NM_024874.4	NP_079150.3	Q8IZA0	K319L_HUMAN	KIAA0319-like	707	PKD 5. {ECO:0000255|PROSITE- ProRule:PRU00151}.					cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(12)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	34		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				CTGCTGTGCTCGTGGGTAGGG	0.463																																						ENST00000325722.3																			0				breast(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(12)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	34						c.(2119-2121)acG>acA		KIAA0319-like							145	125	131					1																	35916052		2203	4300	6503	SO:0001819	synonymous_variant	79932					cytoplasmic vesicle part|integral to membrane	protein binding	g.chr1:35916052C>T	AY163234	CCDS390.1	1p34.3	2008-10-24			ENSG00000142687	ENSG00000142687			30071	protein-coding gene	gene with protein product		613535				11347906	Standard	NM_024874		Approved	KIAA1837	uc001byx.3	Q8IZA0	OTTHUMG00000004370	ENST00000325722.3:c.2121G>A	1.37:g.35916052C>T						KIAA0319L_ENST00000373266.4_Silent_p.T144T|KIAA0319L_ENST00000485551.1_5'UTR	p.T707T	NM_024874.4	NP_079150.3	Q8IZA0	K319L_HUMAN			14	2355	-		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)	707			PKD 5.		B1AN13|D3DPR8|O95010|Q6PJJ7|Q7L1C9|Q8N2B3|Q8NDA0|Q8WY39|Q8WYZ5|Q96IC3|Q96JJ0|Q9BUW6|Q9H7V0	Silent	SNP	ENST00000325722.3	37	c.2121G>A	CCDS390.1																																																																																				0.463	KIAA0319L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012684.2	NM_024874		34	84	0	0	0	1	0	34	84					T	35916052	C	T	35916052	2	4	305	1	0	0	0	0	0	0	0	1	8169	871	31	2		2	KIAA0319L	1	35916052	Silent	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	337007	35916052	213334569	35	14552											
CSF3R	1441	broad.mit.edu	37	chr1	36939479	36939479	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	aggagaggttgtggggtatgGctggagggtctgcatgtggg	6	10	22	3	0	1	1	0	0	1	1	1	3	1	2	0	8	1	4	0	8	1	2			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:36939479G>A	ENST00000373106.1	-	5	918	c.371C>T	c.(370-372)gCc>gTc	p.A124V	CSF3R_ENST00000418048.2_Missense_Mutation_p.A124V|CSF3R_ENST00000373103.1_Missense_Mutation_p.A124V|CSF3R_ENST00000487540.2_5'Flank|CSF3R_ENST00000331941.5_Missense_Mutation_p.A124V|CSF3R_ENST00000373104.1_Missense_Mutation_p.A124V|CSF3R_ENST00000440588.2_Missense_Mutation_p.A124V|CSF3R_ENST00000361632.4_Missense_Mutation_p.A124V|CSF3R_ENST00000338937.5_Missense_Mutation_p.A124V	NM_000760.3	NP_000751.1	Q99062	CSF3R_HUMAN	colony stimulating factor 3 receptor (granulocyte)	124					cell adhesion (GO:0007155)|defense response (GO:0006952)|neutrophil chemotaxis (GO:0030593)|odontogenesis of dentin-containing tooth (GO:0042475)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	cytokine receptor activity (GO:0004896)|receptor activity (GO:0004872)			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)			Filgrastim(DB00099)|Pegfilgrastim(DB00019)	GTGGGGTATGGCTGGAGGGTC	0.607																																						ENST00000373103.1																			0				central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						c.(370-372)gCc>gTc		colony stimulating factor 3 receptor (granulocyte)	Filgrastim(DB00099)|Pegfilgrastim(DB00019)						137	134	135					1																	36939479		2203	4300	6503	SO:0001583	missense	1441				cell adhesion|defense response	extracellular region|integral to plasma membrane	cytokine receptor activity	g.chr1:36939479G>A	M59820	CCDS412.1, CCDS413.1, CCDS414.1	1p35-p34.3	2014-09-17			ENSG00000119535	ENSG00000119535		"CD molecules", "Fibronectin type III domain containing"	2439	protein-coding gene	gene with protein product		138971		CD114		1371413	Standard	NM_000760		Approved	GCSFR	uc001cax.2	Q99062	OTTHUMG00000008010	ENST00000373106.1:c.371C>T	1.37:g.36939479G>A	ENSP00000362198:p.Ala124Val					CSF3R_ENST00000361632.4_Missense_Mutation_p.A124V|CSF3R_ENST00000331941.5_Missense_Mutation_p.A124V|CSF3R_ENST00000373106.1_Missense_Mutation_p.A124V|CSF3R_ENST00000338937.5_Missense_Mutation_p.A124V|CSF3R_ENST00000373104.1_Missense_Mutation_p.A124V|CSF3R_ENST00000418048.2_Missense_Mutation_p.A124V|CSF3R_ENST00000440588.2_Missense_Mutation_p.A124V	p.A124V	NM_156039.3	NP_724781.1	Q99062	CSF3R_HUMAN			5	918	-		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)	124			Fibronectin type-III 1.			Missense_Mutation	SNP	ENST00000373106.1	37	c.371C>T	CCDS413.1	.	.	.	.	.	.	.	.	.	.	G	11.37	1.618496	0.28801	.	.	ENSG00000119535	ENST00000373106;ENST00000373104;ENST00000373103;ENST00000361632;ENST00000331941;ENST00000418048;ENST00000338937;ENST00000440588	T;T;T;T;T;T;T;T	0.37235	1.21;1.21;1.21;1.21;1.21;1.21;1.21;1.21	5.38	2.37	0.29283	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.855056	0.10553	N	0.661209	T	0.23249	0.0562	L	0.55743	1.74	0.09310	N	1	P;P;P;P	0.41214	0.742;0.635;0.502;0.689	B;B;B;B	0.25614	0.048;0.062;0.028;0.039	T	0.19778	-1.0295	10	0.36615	T	0.2	-7.2559	3.418	0.07382	0.1534:0.1326:0.5774:0.1366	.	124;124;124;124	E1B6W6;Q99062-3;Q99062;Q99062-4	.;.;CSF3R_HUMAN;.	V	124	ENSP00000362198:A124V;ENSP00000362196:A124V;ENSP00000362195:A124V;ENSP00000355406:A124V;ENSP00000332180:A124V;ENSP00000401588:A124V;ENSP00000345013:A124V;ENSP00000397568:A124V	ENSP00000332180:A124V	A	-	2	0	CSF3R	36712066	0.009000	0.17119	0.000000	0.03702	0.110000	0.19582	1.778000	0.38614	0.651000	0.30788	0.511000	0.50034	GCC		0.607	CSF3R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021997.2	NM_156039		27	62	0	0	0	1	0	27	62					A	36939479	G	A	36939479	3	1	305	1	0	0	0	0	1	0	0	0	3937	1203	42	3	2381	3	CSF3R	1	36939479	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	1023427	36939479	212311142	36	14553											
GRIK3	2899	broad.mit.edu	37	chr1	37316002	37316002	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acctcagtgatgttgagcccGtcggcaggactccacacccc	8	7	10	16	2	1	2	1	2	0	0	3	3	2	3	5	2	1	2	5	2	0	1			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:37316002G>A	ENST00000373091.3	-	9	1252	c.1236C>T	c.(1234-1236)gaC>gaT	p.D412D	GRIK3_ENST00000373093.4_Silent_p.D412D|GRIK3_ENST00000462621.1_5'UTR	NM_000831.3	NP_000822.2	Q13003	GRIK3_HUMAN	glutamate receptor, ionotropic, kainate 3	412					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	axon (GO:0030424)|cell junction (GO:0030054)|dendrite (GO:0030425)|dendrite cytoplasm (GO:0032839)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	adenylate cyclase inhibiting G-protein coupled glutamate receptor activity (GO:0001640)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|ionotropic glutamate receptor activity (GO:0004970)|kainate selective glutamate receptor activity (GO:0015277)			breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	89		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)				TGTTGAGCCCGTCGGCAGGAC	0.537																																						ENST00000373091.3																			0				breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	89						c.(1234-1236)gaC>gaT		glutamate receptor, ionotropic, kainate 3	L-Glutamic Acid(DB00142)						107	98	101					1																	37316002		2203	4300	6503	SO:0001819	synonymous_variant	2899				negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission	cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button	adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|G-protein-coupled receptor binding|kainate selective glutamate receptor activity	g.chr1:37316002G>A	U16127	CCDS416.1	1p34.3	2012-08-29			ENSG00000163873	ENSG00000163873		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4581	protein-coding gene	gene with protein product		138243				8128318	Standard	NM_000831		Approved	GluK3, GLUR7	uc001caz.2	Q13003	OTTHUMG00000004189	ENST00000373091.3:c.1236C>T	1.37:g.37316002G>A						GRIK3_ENST00000462621.1_5'UTR|GRIK3_ENST00000373093.4_Silent_p.D412D	p.D412D	NM_000831.3	NP_000822.2	Q13003	GRIK3_HUMAN			9	1252	-		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)	412					A9Z1Z8|B1AMS6|Q13004|Q16136	Silent	SNP	ENST00000373091.3	37	c.1236C>T	CCDS416.1																																																																																				0.537	GRIK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012053.1	NM_000831		23	36	0	0	0	1	0	23	36					A	37316002	G	A	37316002	2	1	305	1	0	0	0	0	0	0	0	1	6775	1136	40	1		1	GRIK3	1	37316002	Silent	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	376523	37316002	211934619	37	14554											
EPHA10	284656	broad.mit.edu	37	chr1	38197158	38197158	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tggccccggggaagcggcccGgatctgaaagacgtagcggg	8	4	18	11	5	1	2	0	1	1	1	1	4	1	4	3	6	2	1	3	6	3	1	rs145892280		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:38197158G>A	ENST00000373048.4	-	7	1587	c.1588C>T	c.(1588-1590)Cgg>Tgg	p.R530W	EPHA10_ENST00000427468.2_Missense_Mutation_p.R530W|EPHA10_ENST00000446149.2_5'UTR|EPHA10_ENST00000540011.1_Missense_Mutation_p.R25W|EPHA10_ENST00000330210.7_Missense_Mutation_p.R25W	NM_001099439.1	NP_001092909.1	Q5JZY3	EPHAA_HUMAN	EPH receptor A10	530	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				ephrin receptor signaling pathway (GO:0048013)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|transmembrane-ephrin receptor activity (GO:0005005)			NS(2)|breast(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(13)|prostate(3)|skin(8)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				GAAGCGGCCCGGATCTGAAAG	0.602													G|||	1	0.000199681	8e-04	0	5008	,	,		15912	0		0	False		,,,				2504	0					ENST00000373048.4																			0				NS(2)|breast(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(13)|prostate(3)|skin(8)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						c.(1588-1590)Cgg>Tgg		EPH receptor A10							90	93	92					1																	38197158		1895	4110	6005	SO:0001583	missense	284656					extracellular region|integral to membrane|integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding|transmembrane-ephrin receptor activity	g.chr1:38197158G>A	AK090974	CCDS425.1, CCDS41305.1	1p34.3	2013-02-11			ENSG00000183317	ENSG00000183317		"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	19987	protein-coding gene	gene with protein product		611123				12477932	Standard	NM_001099439		Approved	FLJ16103, FLJ33655	uc009vvi.3	Q5JZY3	OTTHUMG00000004325	ENST00000373048.4:c.1588C>T	1.37:g.38197158G>A	ENSP00000362139:p.Arg530Trp					EPHA10_ENST00000540011.1_Missense_Mutation_p.R25W|EPHA10_ENST00000330210.7_Missense_Mutation_p.R25W|EPHA10_ENST00000446149.2_5'UTR|EPHA10_ENST00000427468.2_Missense_Mutation_p.R530W	p.R530W	NM_001099439.1	NP_001092909.1	Q5JZY3	EPHAA_HUMAN			7	1587	-	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)	530			Fibronectin type-III 2.		A4FU89|J3KPB5|Q6NW42	Missense_Mutation	SNP	ENST00000373048.4	37	c.1588C>T	CCDS41305.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	28.8	4.954583	0.92726	.	.	ENSG00000183317	ENST00000330210;ENST00000427468;ENST00000540011;ENST00000373048	T;T;T;T	0.80909	-1.43;0.29;-1.43;0.29	4.77	4.77	0.60923	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.39020	N	0.001497	D	0.91078	0.7192	M	0.89163	3.01	0.50467	D	0.999874	D	0.89917	1.0	D	0.97110	1.0	D	0.92798	0.6254	10	0.87932	D	0	.	16.5064	0.84273	0.0:0.0:1.0:0.0	.	530	Q5JZY3	EPHAA_HUMAN	W	25;530;25;530	ENSP00000330379:R25W;ENSP00000397746:R530W;ENSP00000441822:R25W;ENSP00000362139:R530W	ENSP00000330379:R25W	R	-	1	2	EPHA10	37969745	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	5.759000	0.68785	2.459000	0.83118	0.563000	0.77884	CGG		0.602	EPHA10-003	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000012497.2	NM_173641		4	173	0	0	0	1	0	4	173					A	38197158	G	A	38197158	3	1	305	1	0	0	0	0	1	0	0	0	5166	1115	39	2	1482	2	EPHA10	1	38197158	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	881156	38197158	211053463	38	14555											
MACF1	23499	broad.mit.edu	37	chr1	39788607	39788607	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggacttaaggactcgctacaCggcattggtgactttaacaa	12	10	10	9	2	0	1	0	1	0	0	1	3	0	3	0	4	2	2	0	4	4	5			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:39788607C>T	ENST00000372915.3	+	32	4265	c.4178C>T	c.(4177-4179)aCg>aTg	p.T1393M	MACF1_ENST00000539005.1_Missense_Mutation_p.T1393M|MACF1_ENST00000564288.1_Missense_Mutation_p.T1388M|MACF1_ENST00000476350.1_3'UTR|MACF1_ENST00000361689.2_Missense_Mutation_p.T1393M|MACF1_ENST00000545844.1_Missense_Mutation_p.T1393M|MACF1_ENST00000567887.1_Missense_Mutation_p.T1425M|MACF1_ENST00000317713.7_Missense_Mutation_p.T1393M			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	1393					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			ACTCGCTACACGGCATTGGTG	0.418																																						ENST00000564288.1																			0				breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203						c.(4162-4164)aCg>aTg		microtubule-actin crosslinking factor 1							158	157	158					1																	39788607		2203	4300	6503	SO:0001583	missense	23499				cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding	g.chr1:39788607C>T	AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"EF-hand domain containing"	13664	protein-coding gene	gene with protein product	"actin cross-linking factor", "620 kDa actin binding protein", "macrophin 1", "trabeculin-alpha", "actin cross-linking family protein 7"	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.4178C>T	1.37:g.39788607C>T	ENSP00000362006:p.Thr1393Met					MACF1_ENST00000545844.1_Missense_Mutation_p.T1393M|MACF1_ENST00000361689.2_Missense_Mutation_p.T1393M|MACF1_ENST00000567887.1_Missense_Mutation_p.T1425M|MACF1_ENST00000476350.1_3'UTR|MACF1_ENST00000539005.1_Missense_Mutation_p.T1393M|MACF1_ENST00000372915.3_Missense_Mutation_p.T1393M|MACF1_ENST00000317713.7_Missense_Mutation_p.T1393M	p.T1388M			Q9UPN3	MACF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)		33	4940	+	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	1393					B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Missense_Mutation	SNP	ENST00000372915.3	37	c.4163C>T		.	.	.	.	.	.	.	.	.	.	C	33	5.273662	0.95459	.	.	ENSG00000127603	ENST00000545844;ENST00000372915;ENST00000361689;ENST00000317713;ENST00000539005;ENST00000524432;ENST00000530262	T;T;T;T;T;T;T	0.35605	1.3;1.3;1.3;1.3;1.3;1.3;1.3	5.99	5.99	0.97316	.	.	.	.	.	T	0.62841	0.2461	M	0.72894	2.215	0.80722	D	1	D;D;D	0.89917	1.0;0.999;0.995	D;P;D	0.79784	0.993;0.872;0.924	T	0.61642	-0.7021	9	0.62326	D	0.03	.	20.4777	0.99188	0.0:1.0:0.0:0.0	.	1393;1393;1358	F8W8Q1;Q9UPN3-2;Q9UPN3-3	.;.;.	M	1393;1393;1393;1393;1393;1351;1542	ENSP00000439537:T1393M;ENSP00000362006:T1393M;ENSP00000354573:T1393M;ENSP00000313438:T1393M;ENSP00000444364:T1393M;ENSP00000435070:T1351M;ENSP00000437059:T1542M	ENSP00000313438:T1393M	T	+	2	0	MACF1	39561194	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	7.747000	0.85070	2.840000	0.97914	0.655000	0.94253	ACG		0.418	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1	NM_033044		9	226	0	0	0	1	0	9	226					T	39788607	C	T	39788607	3	4	305	1	0	0	0	0	1	0	0	0	9144	536	19	1	4304	1	MACF1	1	39788607	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	1591449	39788607	209462014	39	14556											
MACF1	23499	broad.mit.edu	37	chr1	39906934	39906935	+	Frame_Shift_Del	DEL	AG	AG	-																															aacttaaacaaaacatggaaAgagaggctagaaaaacttga																										TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:39906934_39906935delAG	ENST00000372915.3	+	73	18393_18394	c.18306_18307delAG	c.(18304-18309)aaagagfs	p.E6103fs	MACF1_ENST00000539005.1_Frame_Shift_Del_p.E4015fs|MACF1_ENST00000289893.4_Frame_Shift_Del_p.E4647fs|MACF1_ENST00000564288.1_Frame_Shift_Del_p.E6204fs|MACF1_ENST00000361689.2_Frame_Shift_Del_p.E4145fs|MACF1_ENST00000545844.1_Frame_Shift_Del_p.E4145fs|MACF1_ENST00000567887.1_Frame_Shift_Del_p.E6241fs|MACF1_ENST00000317713.7_Frame_Shift_Del_p.E4145fs			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	6103					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			AAACATGGAAAGAGAGGCTAGA	0.441																																						ENST00000564288.1																			0				breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203						c.(18607-18612)aaagfs		microtubule-actin crosslinking factor 1																																				SO:0001589	frameshift_variant	23499				cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding	g.chr1:39906934_39906935delAG	AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"EF-hand domain containing"	13664	protein-coding gene	gene with protein product	"actin cross-linking factor", "620 kDa actin binding protein", "macrophin 1", "trabeculin-alpha", "actin cross-linking family protein 7"	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.18306_18307delAG	1.37:g.39906938_39906939delAG	ENSP00000362006:p.Glu6103fs					MACF1_ENST00000545844.1_Frame_Shift_Del_p.KE4144fs|MACF1_ENST00000317713.7_Frame_Shift_Del_p.KE4144fs|MACF1_ENST00000539005.1_Frame_Shift_Del_p.KE4014fs|MACF1_ENST00000372915.3_Frame_Shift_Del_p.KE6102fs|MACF1_ENST00000567887.1_Frame_Shift_Del_p.KE6240fs|MACF1_ENST00000289893.4_Frame_Shift_Del_p.KE4646fs|MACF1_ENST00000361689.2_Frame_Shift_Del_p.KE4144fs	p.KE6203fs			Q9UPN3	MACF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)		74	19386_19387	+	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	6212					B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Frame_Shift_Del	DEL	ENST00000372915.3	37	c.18609_18610delAG																																																																																					0.441	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1	NM_033044		30	107						30	107	---	---	---	---	-	39906935	AG	-	39906934	7	5	305	1	0	1	0	1	0	0	0	0	9144	69	3	0	18861	0	MACF1	1	39906934	Frame_Shift_Del	DEL	AG	TCGA-KK-A59V-01A-11D-A29Q-08	118327	39906934	209343687	40	14557											
RIMKLA	284716	broad.mit.edu	37	chr1	42880409	42880409	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agactggaaagatggctgtcCtcccaggactgtcgagtcca	10	8	12	11	1	0	2	0	0	0	2	4	5	3	4	3	3	0	1	3	3	1	0			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:42880409C>A	ENST00000431473.3	+	5	1069	c.940C>A	c.(940-942)Ctc>Atc	p.L314I		NM_173642.3	NP_775913.2	Q8IXN7	RIMKA_HUMAN	ribosomal modification protein rimK-like family member A	314					cellular protein modification process (GO:0006464)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|N-acetyl-L-aspartate-L-glutamate ligase activity (GO:0072590)			NS(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	13						GATGGCTGTCCTCCCAGGACT	0.532																																						ENST00000431473.3																			0				NS(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	13						c.(940-942)Ctc>Atc		ribosomal modification protein rimK-like family member A							124	111	115					1																	42880409		2203	4300	6503	SO:0001583	missense	284716				protein modification process	cytoplasm	acid-amino acid ligase activity|ATP binding|metal ion binding	g.chr1:42880409C>A	BC039737	CCDS466.2	1p34.2	2011-09-21	2008-10-13	2008-10-13	ENSG00000177181	ENSG00000177181	6.3.2.N6		28725	protein-coding gene	gene with protein product	"N-acetylaspartylglutamate synthetase II"		"family with sequence similarity 80, member A"	FAM80A		20657015, 21454531	Standard	NM_173642		Approved	MGC47816, RP11-157D18.1, NAAGS-II	uc001chi.2	Q8IXN7	OTTHUMG00000007335	ENST00000431473.3:c.940C>A	1.37:g.42880409C>A	ENSP00000414330:p.Leu314Ile						p.L314I	NM_173642.3	NP_775913.2	Q8IXN7	RIMKA_HUMAN			5	1069	+			314					Q5VUS5	Missense_Mutation	SNP	ENST00000431473.3	37	c.940C>A	CCDS466.2	.	.	.	.	.	.	.	.	.	.	C	21.1	4.095002	0.76870	.	.	ENSG00000177181	ENST00000431473	.	.	.	5.23	5.23	0.72850	.	0.000000	0.85682	D	0.000000	T	0.76364	0.3977	L	0.59436	1.845	0.58432	D	0.99999	D	0.89917	1.0	D	0.83275	0.996	T	0.78443	-0.2202	9	0.72032	D	0.01	-27.2176	16.306	0.82848	0.0:1.0:0.0:0.0	.	314	Q8IXN7	RIMKA_HUMAN	I	314	.	ENSP00000414330:L314I	L	+	1	0	RIMKLA	42652996	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.351000	0.79395	2.447000	0.82792	0.561000	0.74099	CTC		0.532	RIMKLA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019174.3	NM_173642		25	95	1	0	1.10923e-09	1	1.14961e-09	25	95					A	42880409	C	A	42880409	3	1	305	1	0	0	0	0	1	0	0	0	13365	681	24	5	958	5	RIMKLA	1	42880409	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	2973475	42880409	206370212	41	14558											
TIE1	7075	broad.mit.edu	37	chr1	43772910	43772910	+	Frame_Shift_Del	DEL	C	C	-																															catgacggcgaatgtgtatgCccccctggcttcactggcac																										TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:43772910delC	ENST00000372476.3	+	5	817	c.738delC	c.(736-738)tgcfs	p.C246fs	TIE1_ENST00000538015.1_Frame_Shift_Del_p.C246fs|TIE1_ENST00000441333.2_Frame_Shift_Del_p.C246fs|TIE1_ENST00000433781.2_5'UTR	NM_001253357.1|NM_005424.4	NP_001240286.1|NP_005415.1	P35590	TIE1_HUMAN	tyrosine kinase with immunoglobulin-like and EGF-like domains 1	246	EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00076}.				angiogenesis (GO:0001525)|in utero embryonic development (GO:0001701)|mesoderm development (GO:0007498)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell migration (GO:0030336)|peptidyl-tyrosine phosphorylation (GO:0018108)|plasma membrane fusion (GO:0045026)|response to retinoic acid (GO:0032526)|signal transduction (GO:0007165)|vasculogenesis (GO:0001570)	integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.P248fs*117(1)		breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	70	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				AATGTGTATGCCCCCCTGGCT	0.632																																						ENST00000372476.3																			1	Deletion - Frameshift(1)	p.P248fs*117(1)	large_intestine(1)	breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	70						c.(736-738)tgfs		tyrosine kinase with immunoglobulin-like and EGF-like domains 1							56	53	54					1																	43772910		2203	4300	6503	SO:0001589	frameshift_variant	7075				mesoderm development	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity	g.chr1:43772910delC	BC038239	CCDS482.1	1p34-p33	2013-02-11	2004-12-13	2004-12-14	ENSG00000066056	ENSG00000066056	2.7.10.1	"Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	11809	protein-coding gene	gene with protein product		600222	"tyrosine kinase with immunoglobulin and epidermal growth factor homology domains 1"	TIE		1312667	Standard	NM_005424		Approved	JTK14	uc001ciu.3	P35590	OTTHUMG00000007282	ENST00000372476.3:c.738delC	1.37:g.43772910delC	ENSP00000361554:p.Cys246fs					TIE1_ENST00000538015.1_Frame_Shift_Del_p.C246fs|TIE1_ENST00000433781.2_5'UTR|TIE1_ENST00000441333.2_Frame_Shift_Del_p.C246fs	p.C246fs	NM_001253357.1|NM_005424.4	NP_001240286.1|NP_005415.1	P35590	TIE1_HUMAN			5	817	+	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)	246			EGF-like 1.		B5A949|B5A950	Frame_Shift_Del	DEL	ENST00000372476.3	37	c.738delC	CCDS482.1																																																																																				0.632	TIE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019011.1	NM_005424		28	86						28	86	---	---	---	---	-	43772910	C	-	43772910	7	5	305	1	0	1	0	1	0	0	0	0	15890	747	26	0	756	0	TIE1	1	43772910	Frame_Shift_Del	DEL	C	TCGA-KK-A59V-01A-11D-A29Q-08	892501	43772910	205477711	42	14559											
KDM4A	9682	broad.mit.edu	37	chr1	44156708	44156708	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgcaagaagtgcagcgtcCgggtccatgccagtgagtgc	8	7	14	12	2	0	2	0	1	0	1	2	2	2	2	4	1	5	2	4	1	2	0	rs371661735		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:44156708C>T	ENST00000372396.3	+	14	2364	c.2230C>T	c.(2230-2232)Cgg>Tgg	p.R744W		NM_014663.2	NP_055478.2	O75164	KDM4A_HUMAN	lysine (K)-specific demethylase 4A	744					cardiac muscle hypertrophy in response to stress (GO:0014898)|histone demethylation (GO:0016577)|histone H3-K36 demethylation (GO:0070544)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	histone demethylase activity (H3-K36 specific) (GO:0051864)|methylated histone binding (GO:0035064)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(13)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	37						GTGCAGCGTCCGGGTCCATGC	0.567																																						ENST00000372396.3																			0				breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(13)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	37						c.(2230-2232)Cgg>Tgg		lysine (K)-specific demethylase 4A		C	TRP/ARG	0,4406		0,0,2203	172	166	168		2230	4	1	1		168	2,8598	2.2+/-6.3	0,2,4298	no	missense	KDM4A	NM_014663.2	101	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	possibly-damaging	744/1065	44156708	2,13004	2203	4300	6503	SO:0001583	missense	9682				interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|nucleolus	histone demethylase activity (H3-K36 specific)|nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding	g.chr1:44156708C>T	AB014577	CCDS491.1	1p34.1	2013-01-23	2009-04-06	2009-04-06	ENSG00000066135	ENSG00000066135		"Chromatin-modifying enzymes / K-demethylases", "Tudor domain containing"	22978	protein-coding gene	gene with protein product	"jumonji C domain-containing histone demethylase 3A", "tudor domain containing 14A"	609764	"jumonji domain containing 2", "jumonji domain containing 2A"	JMJD2, JMJD2A		9734811, 15138608	Standard	XM_005271354		Approved	KIAA0677, JHDM3A, TDRD14A	uc001cjx.3	O75164	OTTHUMG00000007560	ENST00000372396.3:c.2230C>T	1.37:g.44156708C>T	ENSP00000361473:p.Arg744Trp						p.R744W	NM_014663.2	NP_055478.2	O75164	KDM4A_HUMAN			14	2364	+			744					Q5VVB1	Missense_Mutation	SNP	ENST00000372396.3	37	c.2230C>T	CCDS491.1	.	.	.	.	.	.	.	.	.	.	C	19.10	3.761064	0.69763	0.0	2.33E-4	ENSG00000066135	ENST00000372396	T	0.16073	2.37	5.01	3.98	0.46160	Zinc finger, PHD-type (1);Zinc finger, FYVE/PHD-type (1);	0.106858	0.64402	D	0.000003	T	0.22003	0.0530	L	0.43923	1.385	0.42735	D	0.993725	D	0.65815	0.995	P	0.54965	0.765	T	0.00989	-1.1489	10	0.66056	D	0.02	-15.1865	5.8339	0.18597	0.0:0.7071:0.0:0.2929	.	744	O75164	KDM4A_HUMAN	W	744	ENSP00000361473:R744W	ENSP00000361473:R744W	R	+	1	2	KDM4A	43929295	1.000000	0.71417	1.000000	0.80357	0.856000	0.48823	2.996000	0.49449	2.328000	0.79073	0.563000	0.77884	CGG		0.567	KDM4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019960.1	NM_014663		56	136	0	0	0	1	0	56	136					T	44156708	C	T	44156708	3	4	305	1	0	0	0	0	1	0	0	0	8128	643	23	2	2280	2	KDM4A	1	44156708	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	383798	44156708	205093913	43	14560											
PLK3	1263	broad.mit.edu	37	chr1	45270998	45270998	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccgcccttgctgctgcagTgggtcaagacggatcaggct	6	9	13	13	2	2	1	2	0	0	1	3	2	3	2	2	3	3	4	2	3	1	1			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:45270998T>C	ENST00000372201.4	+	14	1935	c.1696T>C	c.(1696-1698)Tgg>Cgg	p.W566R	PLK3_ENST00000465443.1_3'UTR	NM_004073.2	NP_004064.2	Q9H4B4	PLK3_HUMAN	polo-like kinase 3	566					apoptotic process (GO:0006915)|cellular response to DNA damage stimulus (GO:0006974)|cytoplasmic microtubule organization (GO:0031122)|endomitotic cell cycle (GO:0007113)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|Golgi disassembly (GO:0090166)|mitotic cell cycle checkpoint (GO:0007093)|mitotic G1/S transition checkpoint (GO:0044819)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process involved in cellular response to hypoxia (GO:2000777)|protein kinase B signaling (GO:0043491)|protein phosphorylation (GO:0006468)|regulation of cell division (GO:0051302)|regulation of cytokinesis (GO:0032465)|response to osmotic stress (GO:0006970)|response to radiation (GO:0009314)|response to reactive oxygen species (GO:0000302)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|Golgi stack (GO:0005795)|neuronal cell body (GO:0043025)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|p53 binding (GO:0002039)|protein serine/threonine kinase activity (GO:0004674)			endometrium(4)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Acute lymphoblastic leukemia(166;0.155)					GCTGCTGCAGTGGGTCAAGAC	0.597																																						ENST00000372201.4																			0				endometrium(4)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(1696-1698)Tgg>Cgg		polo-like kinase 3							183	143	156					1																	45270998		2203	4300	6503	SO:0001583	missense	1263					membrane	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr1:45270998T>C	AJ293866	CCDS515.1	1p34.1	2013-01-18	2010-06-24	2004-01-28	ENSG00000173846	ENSG00000173846			2154	protein-coding gene	gene with protein product		602913	"cytokine-inducible kinase", "polo-like kinase 3 (Drosophila)"	CNK		8702627	Standard	NM_004073		Approved	FNK, PRK	uc001cmn.3	Q9H4B4	OTTHUMG00000008491	ENST00000372201.4:c.1696T>C	1.37:g.45270998T>C	ENSP00000361275:p.Trp566Arg					PLK3_ENST00000465443.1_3'UTR	p.W566R	NM_004073.2	NP_004064.2	Q9H4B4	PLK3_HUMAN			14	1935	+	Acute lymphoblastic leukemia(166;0.155)		566					Q15767|Q5JR99|Q96CV1	Missense_Mutation	SNP	ENST00000372201.4	37	c.1696T>C	CCDS515.1	.	.	.	.	.	.	.	.	.	.	T	22.6	4.308998	0.81247	.	.	ENSG00000173846	ENST00000372201;ENST00000543983	T	0.65178	-0.14	5.83	5.83	0.93111	.	.	.	.	.	D	0.82403	0.5029	M	0.90019	3.08	0.80722	D	1	D	0.67145	0.996	D	0.70227	0.968	D	0.86244	0.1645	9	0.87932	D	0	-11.2967	15.3748	0.74596	0.0:0.0:0.0:1.0	.	566	Q9H4B4	PLK3_HUMAN	R	566;541	ENSP00000361275:W566R	ENSP00000361275:W566R	W	+	1	0	PLK3	45043585	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.239000	0.58694	2.220000	0.72140	0.533000	0.62120	TGG		0.597	PLK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023429.1	NM_004073		21	69	0	0	0	1	0	21	69					C	45270998	T	C	45270998	3	2	305	1	0	0	0	0	1	0	0	0	12097	1696	59	4	1750	4	PLK3	1	45270998	Missense_Mutation	SNP	T	TCGA-KK-A59V-01A-11D-A29Q-08	1114290	45270998	203979623	44	14561											
PTCH2	8643	broad.mit.edu	37	chr1	45295123	45295123	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagcactgacttcagagaacGcatgcaggatgtcatccagg	12	7	11	11	1	2	2	2	1	0	1	3	4	3	3	1	2	3	3	1	2	1	1	rs566147210		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:45295123G>A	ENST00000372192.3	-	9	1296	c.1166C>T	c.(1165-1167)gCg>gTg	p.A389V	PTCH2_ENST00000447098.2_Missense_Mutation_p.A389V	NM_003738.4	NP_003729.3	Q9Y6C5	PTC2_HUMAN	patched 2	389					epidermis development (GO:0008544)|hair cycle (GO:0042633)|negative regulation of smoothened signaling pathway (GO:0045879)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	hedgehog family protein binding (GO:0097108)|hedgehog receptor activity (GO:0008158)|smoothened binding (GO:0005119)			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	50	Acute lymphoblastic leukemia(166;0.155)					TTCAGAGAACGCATGCAGGAT	0.622									Basal Cell Nevus syndrome				G|||	1	0.000199681	8e-04	0	5008	,	,		19553	0		0	False		,,,				2504	0					ENST00000447098.2																			0				NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	50						c.(1165-1167)gCg>gTg		patched 2							120	121	120					1																	45295123		2203	4300	6503	SO:0001583	missense	8643	Basal Cell Nevus syndrome	Familial Cancer Database	Gorlin syndrome, Gorlin-Golz syndrome, Naevoid Basal Cell Carcinoma syndrome, NBCCS	protein complex assembly|spermatogenesis	integral to plasma membrane	hedgehog receptor activity	g.chr1:45295123G>A	AF091501	CCDS516.1, CCDS53312.1	1p34.1	2010-06-24	2010-06-24		ENSG00000117425	ENSG00000117425			9586	protein-coding gene	gene with protein product		603673	"patched (Drosophila) homolog 2", "patched homolog 2 (Drosophila)"			9811851, 9931336	Standard	NM_003738		Approved		uc010olf.2	Q9Y6C5	OTTHUMG00000008490	ENST00000372192.3:c.1166C>T	1.37:g.45295123G>A	ENSP00000361266:p.Ala389Val					PTCH2_ENST00000372192.3_Missense_Mutation_p.A389V	p.A389V	NM_001166292.1	NP_001159764.1	Q9Y6C5	PTC2_HUMAN			9	1177	-	Acute lymphoblastic leukemia(166;0.155)		389					O95341|O95856|Q53Z57|Q5QP87|Q6UX14	Missense_Mutation	SNP	ENST00000372192.3	37	c.1166C>T	CCDS516.1	.	.	.	.	.	.	.	.	.	.	G	16.68	3.190097	0.58017	.	.	ENSG00000117425	ENST00000447098;ENST00000372192	D;D	0.91945	-2.94;-2.94	4.74	4.74	0.60224	.	0.227351	0.31450	N	0.007629	D	0.84056	0.5388	N	0.08118	0	0.38830	D	0.955832	B;P	0.35700	0.15;0.516	B;B	0.34346	0.075;0.18	D	0.86101	0.1556	10	0.46703	T	0.11	-26.6342	17.515	0.87770	0.0:0.0:1.0:0.0	.	389;389	Q9Y6C5-2;Q9Y6C5	.;PTC2_HUMAN	V	389	ENSP00000389703:A389V;ENSP00000361266:A389V	ENSP00000361266:A389V	A	-	2	0	PTCH2	45067710	1.000000	0.71417	0.040000	0.18447	0.882000	0.50991	7.308000	0.78929	2.467000	0.83353	0.561000	0.74099	GCG		0.622	PTCH2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000023428.4	NM_003738		49	103	0	0	0	1	0	49	103					A	45295123	G	A	45295123	3	1	305	1	0	0	0	0	1	0	0	0	12731	1087	38	1	2521	1	PTCH2	1	45295123	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	24125	45295123	203955498	45	14562											
PIK3R3	8503	broad.mit.edu	37	chr1	46543215	46543215	+	Frame_Shift_Del	DEL	T	T	-																															caaagtataatctccctgcaTttttgttgaggcatctcgga																										TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:46543215delT	ENST00000262741.5	-	3	975	c.286delA	c.(286-288)atgfs	p.M96fs	PIK3R3_ENST00000372006.1_Frame_Shift_Del_p.M96fs|PIK3R3_ENST00000420542.1_Frame_Shift_Del_p.M96fs|PIK3R3_ENST00000340332.6_Frame_Shift_Del_p.M60fs|PIK3R3_ENST00000354242.4_Frame_Shift_Del_p.M96fs|PIK3R3_ENST00000423209.1_Frame_Shift_Del_p.M96fs|PIK3R3_ENST00000540385.1_Frame_Shift_Del_p.M142fs	NM_003629.3	NP_003620.3	Q92569	P55G_HUMAN	phosphoinositide-3-kinase, regulatory subunit 3 (gamma)	96	SH2 1. {ECO:0000255|PROSITE- ProRule:PRU00191}.				insulin receptor signaling pathway (GO:0008286)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|phosphatidylinositol 3-kinase complex (GO:0005942)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|phosphatidylinositol 3-kinase regulator activity (GO:0035014)			endometrium(1)|large_intestine(5)|lung(6)|prostate(2)	14	Acute lymphoblastic leukemia(166;0.155)				Isoprenaline(DB01064)	TCTCCCTGCATTTTTGTTGAG	0.383																																						ENST00000262741.5																			0				endometrium(1)|large_intestine(5)|lung(6)|prostate(2)	14						c.(286-288)tgfs		phosphoinositide-3-kinase, regulatory subunit 3 (gamma)							129	126	127					1																	46543215		2203	4300	6503	SO:0001589	frameshift_variant	8503				insulin receptor signaling pathway|platelet activation|T cell costimulation		1-phosphatidylinositol-3-kinase activity|protein binding	g.chr1:46543215delT	BC021622	CCDS529.1	1p34.1	2013-02-14	2008-02-04		ENSG00000117461	ENSG00000117461		"SH2 domain containing"	8981	protein-coding gene	gene with protein product		606076				9524259	Standard	NM_003629		Approved	p55	uc001cpb.4	Q92569	OTTHUMG00000008096	ENST00000262741.5:c.286delA	1.37:g.46543215delT	ENSP00000262741:p.Met96fs					PIK3R3_ENST00000354242.4_Frame_Shift_Del_p.M96fs|PIK3R3_ENST00000340332.6_Frame_Shift_Del_p.M60fs|PIK3R3_ENST00000540385.1_Frame_Shift_Del_p.M142fs|PIK3R3_ENST00000423209.1_Frame_Shift_Del_p.M96fs|PIK3R3_ENST00000420542.1_Frame_Shift_Del_p.M96fs|PIK3R3_ENST00000372006.1_Frame_Shift_Del_p.M96fs	p.M96fs	NM_003629.3	NP_003620.3	Q92569	P55G_HUMAN			3	975	-	Acute lymphoblastic leukemia(166;0.155)		96			SH2 1.		B2R9C1|D3DQ12|O60482|Q5T4P1|Q5T4P2	Frame_Shift_Del	DEL	ENST00000262741.5	37	c.286delA	CCDS529.1																																																																																				0.383	PIK3R3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022171.1	NM_003629		9	119						9	119	---	---	---	---	-	46543215	T	-	46543215	7	5	305	1	0	1	0	1	0	0	0	0	11920	1493	52	0	1131	0	PIK3R3	1	46543215	Frame_Shift_Del	DEL	T	TCGA-KK-A59V-01A-11D-A29Q-08	1248092	46543215	202707406	46	14563											
C1orf123	54987	broad.mit.edu	37	chr1	53681698	53681698	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aatgtcactgaaggctgtccCtgactccacaccttcagcag	10	9	8	14	0	2	2	2	2	0	0	4	2	4	2	3	1	1	2	3	1	2	1			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:53681698C>T	ENST00000294360.4	-	7	411	c.370G>A	c.(370-372)Ggg>Agg	p.G124R	RP5-1024G6.2_ENST00000452466.1_RNA|C1orf123_ENST00000470385.1_5'UTR	NM_017887.1	NP_060357.1	Q9NWV4	CA123_HUMAN	chromosome 1 open reading frame 123	124						extracellular vesicular exosome (GO:0070062)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|pancreas(2)|skin(1)	6						AAGGCTGTCCCTGACTCCACA	0.517																																						ENST00000294360.4																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|pancreas(2)|skin(1)	6						c.(370-372)Ggg>Agg		chromosome 1 open reading frame 123							144	133	137					1																	53681698		2203	4300	6503	SO:0001583	missense	54987							g.chr1:53681698C>T	BC010908	CCDS576.1	1p32.3	2011-02-18			ENSG00000162384	ENSG00000162384			26059	protein-coding gene	gene with protein product						12477932	Standard	NM_017887		Approved	FLJ20580	uc001cvd.3	Q9NWV4	OTTHUMG00000008940	ENST00000294360.4:c.370G>A	1.37:g.53681698C>T	ENSP00000294360:p.Gly124Arg					C1orf123_ENST00000470385.1_5'UTR	p.G124R	NM_017887.1	NP_060357.1	Q9NWV4	CA123_HUMAN			7	411	-			124						Missense_Mutation	SNP	ENST00000294360.4	37	c.370G>A	CCDS576.1	.	.	.	.	.	.	.	.	.	.	C	10.43	1.349427	0.24426	.	.	ENSG00000162384	ENST00000294360	.	.	.	5.7	3.84	0.44239	.	0.213654	0.47455	D	0.000236	T	0.65893	0.2735	M	0.85299	2.745	0.80722	D	1	B;B	0.27351	0.071;0.176	B;B	0.30716	0.105;0.119	T	0.69409	-0.5153	9	0.66056	D	0.02	-21.1711	10.9102	0.47103	0.0:0.8459:0.0:0.1541	.	94;124	D3DQ38;Q9NWV4	.;CA123_HUMAN	R	124	.	ENSP00000294360:G124R	G	-	1	0	C1orf123	53454286	0.977000	0.34250	0.879000	0.34478	0.045000	0.14185	2.499000	0.45372	1.411000	0.46957	0.655000	0.94253	GGG		0.517	C1orf123-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024751.1	NM_017887		39	107	0	0	0	1	0	39	107					T	53681698	C	T	53681698	3	4	305	1	0	0	0	0	1	0	0	0	1991	681	24	3	120	3	C1orf123	1	53681698	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	7138483	53681698	195568923	47	14564											
PPAP2B	8613	broad.mit.edu	37	chr1	56977736	56977736	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgatacgcgagacagtcccGtgtagaaggccatcatgatc	11	8	11	11	3	1	4	1	2	0	2	3	5	2	4	2	1	1	1	2	1	3	2			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:56977736G>A	ENST00000371250.3	-	5	1273	c.722C>T	c.(721-723)aCg>aTg	p.T241M	PPAP2B_ENST00000459962.1_5'UTR	NM_003713.4	NP_003704.3	O14495	LPP3_HUMAN	phosphatidic acid phosphatase type 2B	241					Bergmann glial cell differentiation (GO:0060020)|blood vessel development (GO:0001568)|canonical Wnt signaling pathway involved in positive regulation of cell-cell adhesion (GO:0044329)|canonical Wnt signaling pathway involved in positive regulation of endothelial cell migration (GO:0044328)|canonical Wnt signaling pathway involved in positive regulation of wound healing (GO:0044330)|dephosphorylation (GO:0016311)|gastrulation with mouth forming second (GO:0001702)|germ cell migration (GO:0008354)|homotypic cell-cell adhesion (GO:0034109)|lipid metabolic process (GO:0006629)|negative regulation of protein phosphorylation (GO:0001933)|phospholipid metabolic process (GO:0006644)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein stabilization (GO:0050821)|regulation of sphingolipid mediated signaling pathway (GO:1902068)|regulation of Wnt signaling pathway (GO:0030111)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)	adherens junction (GO:0005912)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	lipid phosphatase activity (GO:0042577)|phosphatidate phosphatase activity (GO:0008195)|phosphoprotein phosphatase activity (GO:0004721)|sphingosine-1-phosphate phosphatase activity (GO:0042392)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	17						AGACAGTCCCGTGTAGAAGGC	0.577																																						ENST00000371250.3																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	17						c.(721-723)aCg>aTg		phosphatidic acid phosphatase type 2B							88	82	84					1																	56977736		2203	4300	6503	SO:0001583	missense	8613				canonical Wnt receptor signaling pathway involved in positive regulation of cell-cell adhesion|canonical Wnt receptor signaling pathway involved in positive regulation of endothelial cell migration|canonical Wnt receptor signaling pathway involved in positive regulation of wound healing|germ cell migration|homotypic cell-cell adhesion|negative regulation of protein phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|sphingolipid metabolic process	adherens junction|Golgi apparatus|integral to membrane	phosphatidate phosphatase activity|phosphoprotein phosphatase activity|protein binding|sphingosine-1-phosphate phosphatase activity	g.chr1:56977736G>A	AB000889	CCDS604.1	1p32.2	2009-05-27			ENSG00000162407	ENSG00000162407	3.1.3.4		9229	protein-coding gene	gene with protein product		607125				9305923	Standard	NM_003713		Approved	PAP-2b, LPP3	uc001cyj.2	O14495	OTTHUMG00000008160	ENST00000371250.3:c.722C>T	1.37:g.56977736G>A	ENSP00000360296:p.Thr241Met					PPAP2B_ENST00000459962.1_5'UTR	p.T241M	NM_003713.4	NP_003704.3	O14495	LPP3_HUMAN			5	1273	-			241					B2R651|D3DQ52|Q5U0F7|Q96GW0|Q99782	Missense_Mutation	SNP	ENST00000371250.3	37	c.722C>T	CCDS604.1	.	.	.	.	.	.	.	.	.	.	G	32	5.118311	0.94385	.	.	ENSG00000162407	ENST00000371250	T	0.73789	-0.78	6.04	6.04	0.98038	Phosphatidic acid phosphatase/chloroperoxidase, N-terminal (1);	0.094876	0.64402	D	0.000001	D	0.84229	0.5426	L	0.49513	1.565	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.84162	0.0429	10	0.72032	D	0.01	.	19.583	0.95478	0.0:0.0:1.0:0.0	.	241	O14495	LPP3_HUMAN	M	241	ENSP00000360296:T241M	ENSP00000360296:T241M	T	-	2	0	PPAP2B	56750324	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	9.476000	0.97823	2.873000	0.98535	0.563000	0.77884	ACG		0.577	PPAP2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022334.2	NM_003713		25	69	0	0	0	1	0	25	69					A	56977736	G	A	56977736	3	1	305	1	0	0	0	0	1	0	0	0	12291	1145	40	1	221	1	PPAP2B	1	56977736	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	3296038	56977736	192272885	48	14565											
PRKAA2	5563	broad.mit.edu	37	chr1	57173319	57173319	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attgtcttcagtttcacctcGcctgggcagtcacaccatgg	7	12	9	13	1	4	0	3	0	1	0	5	0	4	0	3	2	0	2	3	2	0	3			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:57173319G>A	ENST00000371244.4	+	9	1658	c.1592G>A	c.(1591-1593)cGc>cAc	p.R531H		NM_006252.3	NP_006243.2	P54646	AAPK2_HUMAN	protein kinase, AMP-activated, alpha 2 catalytic subunit	531					autophagy (GO:0006914)|carnitine shuttle (GO:0006853)|cell cycle arrest (GO:0007050)|cellular lipid metabolic process (GO:0044255)|cellular response to glucose starvation (GO:0042149)|cellular response to nutrient levels (GO:0031669)|cholesterol biosynthetic process (GO:0006695)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|fatty acid homeostasis (GO:0055089)|glucose homeostasis (GO:0042593)|insulin receptor signaling pathway (GO:0008286)|lipid biosynthetic process (GO:0008610)|membrane organization (GO:0061024)|negative regulation of apoptotic process (GO:0043066)|negative regulation of TOR signaling (GO:0032007)|positive regulation of autophagy (GO:0010508)|positive regulation of glycolytic process (GO:0045821)|protein phosphorylation (GO:0006468)|regulation of circadian rhythm (GO:0042752)|regulation of energy homeostasis (GO:2000505)|regulation of fatty acid biosynthetic process (GO:0042304)|regulation of transcription, DNA-templated (GO:0006355)|response to stress (GO:0006950)|rhythmic process (GO:0048511)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	[acetyl-CoA carboxylase] kinase activity (GO:0050405)|[hydroxymethylglutaryl-CoA reductase (NADPH)] kinase activity (GO:0047322)|AMP-activated protein kinase activity (GO:0004679)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|histone serine kinase activity (GO:0035174)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)			breast(6)|endometrium(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|stomach(1)	23					Acetylsalicylic acid(DB00945)	GTTTCACCTCGCCTGGGCAGT	0.443																																						ENST00000371244.4																			0				breast(6)|endometrium(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|stomach(1)	23						c.(1591-1593)cGc>cAc		protein kinase, AMP-activated, alpha 2 catalytic subunit							153	137	142					1																	57173319		2203	4300	6503	SO:0001583	missense	5563				carnitine shuttle|cell cycle arrest|cholesterol biosynthetic process|energy reserve metabolic process|fatty acid biosynthetic process|insulin receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation	cytosol|nucleoplasm	ATP binding|metal ion binding	g.chr1:57173319G>A	BC069823	CCDS605.1	1p31	2011-08-25			ENSG00000162409	ENSG00000162409			9377	protein-coding gene	gene with protein product		600497		PRKAA		7959015	Standard	NM_006252		Approved	AMPK, AMPKa2	uc001cyk.4	P54646	OTTHUMG00000008282	ENST00000371244.4:c.1592G>A	1.37:g.57173319G>A	ENSP00000360290:p.Arg531His						p.R531H	NM_006252.3	NP_006243.2	P54646	AAPK2_HUMAN			9	1658	+			531					Q9H1E8|Q9UD43	Missense_Mutation	SNP	ENST00000371244.4	37	c.1592G>A	CCDS605.1	.	.	.	.	.	.	.	.	.	.	G	19.47	3.833188	0.71258	.	.	ENSG00000162409	ENST00000371244	T	0.73575	-0.76	5.99	5.99	0.97316	.	0.050193	0.85682	D	0.000000	T	0.75657	0.3879	L	0.50333	1.59	0.80722	D	1	D	0.61080	0.989	P	0.46320	0.512	T	0.75451	-0.3313	10	0.45353	T	0.12	-14.2262	20.4777	0.99188	0.0:0.0:1.0:0.0	.	531	P54646	AAPK2_HUMAN	H	531	ENSP00000360290:R531H	ENSP00000360290:R531H	R	+	2	0	PRKAA2	56945907	1.000000	0.71417	1.000000	0.80357	0.704000	0.40688	9.476000	0.97823	2.840000	0.97914	0.655000	0.94253	CGC		0.443	PRKAA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022753.2	NM_006252		34	120	0	0	0	1	0	34	120					A	57173319	G	A	57173319	3	1	305	1	0	0	0	0	1	0	0	0	12494	1087	38	1	1626	1	PRKAA2	1	57173319	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	195583	57173319	192077302	49	14566											
UBE2U	148581	broad.mit.edu	37	chr1	64698334	64698334	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gaatactacagaactccatgTaaggtgaactatccttatcc	14	11	6	10	0	0	2	0	1	0	1	3	3	3	2	3	1	4	1	3	1	8	5			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:64698334T>C	ENST00000371076.3	+	7	839		c.e7+2		UBE2U_ENST00000464349.1_Splice_Site	NM_152489.1	NP_689702.1	Q5VVX9	UBE2U_HUMAN	ubiquitin-conjugating enzyme E2U (putative)						protein ubiquitination (GO:0016567)		acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)			large_intestine(3)|lung(2)|skin(1)	6						GAACTCCATGTAAGGTGAACT	0.338																																						ENST00000371077.4																			0				large_intestine(3)|lung(2)|skin(1)	6						c.e7+2		ubiquitin-conjugating enzyme E2U (putative)							148	135	139					1																	64698334		2203	4300	6503	SO:0001630	splice_region_variant	148581						ATP binding|protein binding|ubiquitin-protein ligase activity	g.chr1:64698334T>C	BC029895	CCDS627.1	1p31.3	2008-02-05			ENSG00000177414	ENSG00000177414		"Ubiquitin-conjugating enzymes E2"	28559	protein-coding gene	gene with protein product						12477932	Standard	NM_152489		Approved	MGC35130	uc001dbn.1	Q5VVX9	OTTHUMG00000009023	ENST00000371076.3:c.595+2T>C	1.37:g.64698334T>C						UBE2U_ENST00000464349.1_Splice_Site|UBE2U_ENST00000371076.3_Splice_Site				Q5VVX9	UBE2U_HUMAN			7	1019	+								Q8N1D4	Splice_Site	SNP	ENST00000371076.3	37		CCDS627.1	.	.	.	.	.	.	.	.	.	.	T	18.40	3.616246	0.66672	.	.	ENSG00000177414	ENST00000371077;ENST00000371076	.	.	.	5.82	5.82	0.92795	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.566	0.56310	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	UBE2U	64470922	1.000000	0.71417	1.000000	0.80357	0.851000	0.48451	4.160000	0.58164	2.223000	0.72356	0.482000	0.46254	.		0.338	UBE2U-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025005.1	NM_152489	Intron	7	26	0	0	0	1	0	7	26					C	64698334	T	C	64698334	5	2	305	1	0	0	0	0	0	0	1	0	16871	1652	57	4	623	4	UBE2U	1	64698334	Splice_Site	SNP	T	TCGA-KK-A59V-01A-11D-A29Q-08	7525015	64698334	184552287	50	14567											
C1orf173	127254	broad.mit.edu	37	chr1	75038828	75038829	+	Frame_Shift_Ins	INS	-	-	C																															gcttgtcctatggggtctgaINSccccccttcacccagccttc																								rs372137519	byFrequency	TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:75038828_75038829insC	ENST00000326665.5	-	14	2783_2784	c.2565_2566insG	c.(2563-2568)gggtcafs	p.S856fs	C1orf173_ENST00000433746.2_5'UTR	NM_001002912.4	NP_001002912.4	Q5RHP9	ERIC3_HUMAN		856	Glu-rich.									NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						ATGGGGTCTGACCCCCCTTCAC	0.53																																						ENST00000326665.5																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						c.(2563-2568)ggcagafs		chromosome 1 open reading frame 173																																				SO:0001589	frameshift_variant	127254							g.chr1:75038828_75038829insC																												ENST00000326665.5:c.2566dupG	1.37:g.75038834_75038834dupC	ENSP00000322609:p.Ser856fs					C1orf173_ENST00000433746.2_5'UTR	p.R856fs	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN			14	2783_2784	-			856			Glu-rich.		Q68DL8|Q6GMR8|Q6ZSF9|Q8ND41	Frame_Shift_Ins	INS	ENST00000326665.5	37	c.2565_2566insG	CCDS30755.1																																																																																				0.53	C1orf173-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026516.1			16	176						16	176	---	---	---	---	C	75038829	-	C	75038828	7	5	305	1	0	1	1	0	0	0	0	0	2014	275	10	0	2030	0	C1orf173	1	75038828	Frame_Shift_Ins	INS	-	TCGA-KK-A59V-01A-11D-A29Q-08	10340494	75038828	174211793	51	14568											
LPHN2	23266	broad.mit.edu	37	chr1	82408815	82408817	+	In_Frame_Del	DEL	CTT	CTT	-																															cgatactttaatagaatatgCttctttagaagatttccaaa																										TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:82408815_82408817delCTT	ENST00000370728.1	+	8	1205_1207	c.560_562delCTT	c.(559-564)gcttct>gct	p.S188del	LPHN2_ENST00000370717.2_In_Frame_Del_p.S188del|LPHN2_ENST00000370715.1_In_Frame_Del_p.S188del|LPHN2_ENST00000394879.1_In_Frame_Del_p.S188del|LPHN2_ENST00000359929.3_In_Frame_Del_p.S188del|LPHN2_ENST00000370723.1_In_Frame_Del_p.S188del|LPHN2_ENST00000370713.1_In_Frame_Del_p.S188del|LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000370727.1_In_Frame_Del_p.S188del|LPHN2_ENST00000370725.1_In_Frame_Del_p.S188del|LPHN2_ENST00000335786.5_In_Frame_Del_p.S188del|LPHN2_ENST00000271029.4_In_Frame_Del_p.S188del|LPHN2_ENST00000319517.6_In_Frame_Del_p.S188del|LPHN2_ENST00000370730.1_In_Frame_Del_p.S188del|LPHN2_ENST00000370721.1_In_Frame_Del_p.S192del			O95490	LPHN2_HUMAN	latrophilin 2	188	Olfactomedin-like. {ECO:0000255|PROSITE- ProRule:PRU00446}.				G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|G-protein coupled receptor activity (GO:0004930)|latrotoxin receptor activity (GO:0016524)			NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		ATAGAATATGCTTCTTTAGAAGA	0.409																																						ENST00000370728.1																			0				NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119						c.(559-564)gct>g		latrophilin 2																																				SO:0001651	inframe_deletion	23266				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding	g.chr1:82408815_82408817delCTT	AJ131581	CCDS689.1, CCDS72811.1	1p31.1	2014-08-08	2003-03-17	2003-05-02	ENSG00000117114	ENSG00000117114		"-", "GPCR / Class B : Orphans"	18582	protein-coding gene	gene with protein product		607018	"latrophilin 1"	LPHH1		10760572	Standard	XR_248786		Approved	KIAA0786, LEC1	uc001diu.3	O95490	OTTHUMG00000009844	ENST00000370728.1:c.560_562delCTT	1.37:g.82408818_82408820delCTT	ENSP00000359763:p.Ser188del					LPHN2_ENST00000370725.1_In_Frame_Del_p.AS187del|LPHN2_ENST00000370727.1_In_Frame_Del_p.AS187del|LPHN2_ENST00000359929.3_In_Frame_Del_p.AS187del|LPHN2_ENST00000370730.1_In_Frame_Del_p.AS187del|LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000370713.1_In_Frame_Del_p.AS187del|LPHN2_ENST00000319517.6_In_Frame_Del_p.AS187del|LPHN2_ENST00000394879.1_In_Frame_Del_p.AS187del|LPHN2_ENST00000370715.1_In_Frame_Del_p.AS187del|LPHN2_ENST00000370721.1_In_Frame_Del_p.AS191del|LPHN2_ENST00000271029.4_In_Frame_Del_p.AS187del|LPHN2_ENST00000370723.1_In_Frame_Del_p.AS187del|LPHN2_ENST00000370717.2_In_Frame_Del_p.AS187del|LPHN2_ENST00000335786.5_In_Frame_Del_p.AS187del	p.AS187del			O95490	LPHN2_HUMAN		all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)	8	1205_1207	+			187			Olfactomedin-like.		A5XEI2|B1ALT8|B1ALT9|B1ALU0|B1ALU2|B1ALU4|B1ALU5|B1ALU6|O94882|Q5VX76|Q9UKY5|Q9UKY6	In_Frame_Del	DEL	ENST00000370728.1	37	c.560_562delCTT																																																																																					0.409	LPHN2-007	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000027188.1	NM_012302		31	66						31	66	---	---	---	---	-	82408817	CTT	-	82408815	7	5	305	1	0	1	0	1	0	0	0	0	8916	797	28	0	574	0	LPHN2	1	82408815	In_Frame_Del	DEL	CTT	TCGA-KK-A59V-01A-11D-A29Q-08	7369987	82408815	166841806	52	14569											
MCOLN2	255231	broad.mit.edu	37	chr1	85431281	85431281	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tctgcaaacccagtttccacGgaatctggcgtctggctcgg	7	10	11	13	3	3	0	0	0	3	0	5	1	4	1	2	4	2	3	2	4	2	1	rs200938463		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:85431281G>A	ENST00000370608.3	-	2	255	c.188C>T	c.(187-189)cCg>cTg	p.P63L	MCOLN2_ENST00000531325.1_5'UTR|MCOLN2_ENST00000284027.5_Missense_Mutation_p.P35L	NM_153259.2	NP_694991.2	Q8IZK6	MCLN2_HUMAN	mucolipin 2	63					calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)	18				all cancers(265;0.0111)|Epithelial(280;0.0263)|OV - Ovarian serous cystadenocarcinoma(397;0.217)		CAGTTTCCACGGAATCTGGCG	0.413																																						ENST00000370608.3																			0				NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)	18						c.(187-189)cCg>cTg		mucolipin 2		G	LEU/PRO	0,4406		0,0,2203	107	106	106		188	5.9	0.9	1		106	2,8598	2.2+/-6.3	0,2,4298	no	missense	MCOLN2	NM_153259.2	98	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	probably-damaging	63/567	85431281	2,13004	2203	4300	6503	SO:0001583	missense	255231					integral to membrane	ion channel activity	g.chr1:85431281G>A	AK094010	CCDS30762.1	1p22	2011-12-16			ENSG00000153898	ENSG00000153898		"Voltage-gated ion channels / Transient receptor potential cation channels"	13357	protein-coding gene	gene with protein product		607399				16382100	Standard	XM_005270719		Approved	TRPML2, FLJ36691, TRP-ML2	uc001dkm.3	Q8IZK6	OTTHUMG00000009954	ENST00000370608.3:c.188C>T	1.37:g.85431281G>A	ENSP00000359640:p.Pro63Leu					MCOLN2_ENST00000284027.5_Missense_Mutation_p.P35L|MCOLN2_ENST00000531325.1_5'UTR	p.P63L	NM_153259.2	NP_694991.2	Q8IZK6	MCLN2_HUMAN		all cancers(265;0.0111)|Epithelial(280;0.0263)|OV - Ovarian serous cystadenocarcinoma(397;0.217)	2	255	-			63					A6NI99|Q2M3I6|Q5TAG5|Q8N9R3	Missense_Mutation	SNP	ENST00000370608.3	37	c.188C>T	CCDS30762.1	.	.	.	.	.	.	.	.	.	.	G	26.7	4.759940	0.89932	0.0	2.33E-4	ENSG00000153898	ENST00000370608;ENST00000284027	T;T	0.58940	0.3;0.3	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	T	0.77980	0.4212	M	0.86097	2.795	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.79337	-0.1845	10	0.87932	D	0	-39.3536	20.5827	0.99408	0.0:0.0:1.0:0.0	.	63	Q8IZK6	MCLN2_HUMAN	L	63;35	ENSP00000359640:P63L;ENSP00000284027:P35L	ENSP00000284027:P35L	P	-	2	0	MCOLN2	85203869	1.000000	0.71417	0.920000	0.36463	0.589000	0.36550	9.342000	0.97044	2.941000	0.99782	0.655000	0.94253	CCG		0.413	MCOLN2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000027567.2	NM_153259		19	35	0	0	0	1	0	19	35					A	85431281	G	A	85431281	3	1	305	1	0	0	0	0	1	0	0	0	9396	1116	39	2	1564	2	MCOLN2	1	85431281	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	3022466	85431281	163819340	53	14570											
WDR63	126820	broad.mit.edu	37	chr1	85589838	85589838	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agccaccacaccattcacgaCggaactgtccacactattca	13	7	5	16	2	2	0	2	0	0	0	3	2	3	1	4	1	2	0	4	1	2	3	rs138281012	byFrequency	TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:85589838C>T	ENST00000294664.6	+	19	2196	c.2016C>T	c.(2014-2016)gaC>gaT	p.D672D	WDR63_ENST00000370596.1_Silent_p.D633D|WDR63_ENST00000326813.8_Silent_p.D633D	NM_145172.3	NP_660155.2	Q8IWG1	WDR63_HUMAN	WD repeat domain 63	672										NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)	36				all cancers(265;0.00391)|Epithelial(280;0.00922)|Colorectal(170;0.166)		CCATTCACGACGGAACTGTCC	0.443													C|||	36	0.0071885	0	0	5008	,	,		22792	0		0	False		,,,				2504	0.0368					ENST00000294664.6																			0				NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)	36						c.(2014-2016)gaC>gaT		WD repeat domain 63		C		1,4405	2.1+/-5.4	0,1,2202	296	235	256		2016	-4.7	0.7	1	dbSNP_134	256	18,8582	12.6+/-44.7	0,18,4282	no	coding-synonymous	WDR63	NM_145172.3		0,19,6484	TT,TC,CC		0.2093,0.0227,0.1461		672/892	85589838	19,12987	2203	4300	6503	SO:0001819	synonymous_variant	126820							g.chr1:85589838C>T		CCDS702.1, CCDS72818.1	1p22.3	2014-02-21	2013-02-19	2013-02-19	ENSG00000162643	ENSG00000162643		"WD repeat domain containing"	30711	protein-coding gene	gene with protein product						21953912	Standard	XM_005270438		Approved	DIC3, FLJ30067, NYD-SP29	uc001dkt.3	Q8IWG1	OTTHUMG00000009953	ENST00000294664.6:c.2016C>T	1.37:g.85589838C>T						WDR63_ENST00000370596.1_Silent_p.D633D|WDR63_ENST00000326813.8_Silent_p.D633D	p.D672D	NM_145172.3	NP_660155.2	Q8IWG1	WDR63_HUMAN		all cancers(265;0.00391)|Epithelial(280;0.00922)|Colorectal(170;0.166)	19	2196	+			672					A8K988|Q96L72|Q96NU4	Silent	SNP	ENST00000294664.6	37	c.2016C>T	CCDS702.1																																																																																				0.443	WDR63-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027565.2	NM_145172		30	74	0	0	0	1	0	30	74					T	85589838	C	T	85589838	2	4	305	1	0	0	0	0	0	0	0	1	17311	535	19	1		1	WDR63	1	85589838	Silent	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	158557	85589838	163660783	54	14571											
CLCA4	22802	broad.mit.edu	37	chr1	87041173	87041173	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cccagcccaatgattgtttaCgcagaaattctacaaggata	14	10	7	10	1	1	2	0	1	1	1	1	3	1	3	2	1	3	2	2	1	6	6	rs372874690		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:87041173C>T	ENST00000370563.3	+	11	1884	c.1842C>T	c.(1840-1842)taC>taT	p.Y614Y	RP4-651E10.4_ENST00000456587.1_RNA	NM_012128.3	NP_036260.2	Q14CN2	CLCA4_HUMAN	chloride channel accessory 4	614					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	chloride channel activity (GO:0005254)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44		Lung NSC(277;0.238)		all cancers(265;0.0202)|Epithelial(280;0.0404)		TGATTGTTTACGCAGAAATTC	0.398																																						ENST00000370563.3																			0				breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44						c.(1840-1842)taC>taT		chloride channel accessory 4		C		0,3742		0,0,1871	148	137	140		1842	-0.6	1	1		140	1,8219		0,1,4109	no	coding-synonymous	CLCA4	NM_012128.3		0,1,5980	TT,TC,CC		0.0122,0.0,0.0084		614/920	87041173	1,11961	1871	4110	5981	SO:0001819	synonymous_variant	22802					apical plasma membrane|extracellular region|integral to plasma membrane	chloride channel activity	g.chr1:87041173C>T	AF127035	CCDS41355.1	1p31-p22	2012-02-26	2009-01-29		ENSG00000016602	ENSG00000016602			2018	protein-coding gene	gene with protein product			"chloride channel, calcium activated, family member 4", "chloride channel regulator 4"			10437792	Standard	NM_012128		Approved	CaCC2	uc009wcs.3	Q14CN2	OTTHUMG00000010260	ENST00000370563.3:c.1842C>T	1.37:g.87041173C>T						RP4-651E10.4_ENST00000456587.1_RNA	p.Y614Y	NM_012128.3	NP_036260.2	Q14CN2	CLCA4_HUMAN		all cancers(265;0.0202)|Epithelial(280;0.0404)	11	1884	+		Lung NSC(277;0.238)	614					A8MQC9|B7Z1Q5|Q6UX81|Q9UNF7	Silent	SNP	ENST00000370563.3	37	c.1842C>T	CCDS41355.1																																																																																				0.398	CLCA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028292.1	NM_012128		30	93	0	0	0	1	0	30	93					T	87041173	C	T	87041173	2	4	305	1	0	0	0	0	0	0	0	1	3459	547	19	1		1	CLCA4	1	87041173	Silent	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	1451335	87041173	162209448	55	14572											
LRRC8C	84230	broad.mit.edu	37	chr1	90180448	90180448	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccctcctgaactgggtgaCtgtcgggctctgaagcgagc	6	9	13	13	2	1	3	0	3	1	0	4	4	3	3	2	2	3	1	2	2	2	0			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:90180448C>T	ENST00000370454.4	+	3	2574	c.2319C>T	c.(2317-2319)gaC>gaT	p.D773D	LRRC8C_ENST00000479252.1_Intron|RP11-302M6.4_ENST00000370453.5_Intron	NM_032270.4	NP_115646	Q8TDW0	LRC8C_HUMAN	leucine rich repeat containing 8 family, member C	773					fat cell differentiation (GO:0045444)|ion transport (GO:0006811)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|large_intestine(5)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	28		all_lung(203;0.126)		all cancers(265;0.00756)|Epithelial(280;0.0313)		AACTGGGTGACTGTCGGGCTC	0.413																																						ENST00000370454.4																			0				breast(1)|central_nervous_system(1)|large_intestine(5)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	28						c.(2317-2319)gaC>gaT		leucine rich repeat containing 8 family, member C							81	85	84					1																	90180448		2203	4300	6503	SO:0001819	synonymous_variant	84230					endoplasmic reticulum membrane|integral to membrane		g.chr1:90180448C>T		CCDS725.1	1p22.2	2011-02-10			ENSG00000171488	ENSG00000171488			25075	protein-coding gene	gene with protein product	"hypothetical protein AD158"	612889				11230166	Standard	NM_032270		Approved	AD158	uc001dnl.4	Q8TDW0	OTTHUMG00000010305	ENST00000370454.4:c.2319C>T	1.37:g.90180448C>T						RP11-302M6.4_ENST00000370453.5_Intron|LRRC8C_ENST00000479252.1_Intron	p.D773D	NM_032270.4	NP_115646.2	Q8TDW0	LRC8C_HUMAN		all cancers(265;0.00756)|Epithelial(280;0.0313)	3	2574	+		all_lung(203;0.126)	773					B3KXS9|Q29RV6|Q9H075	Silent	SNP	ENST00000370454.4	37	c.2319C>T	CCDS725.1																																																																																				0.413	LRRC8C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028435.2	NM_032270		17	61	0	0	0	1	0	17	61					T	90180448	C	T	90180448	2	4	305	1	0	0	0	0	0	0	0	1	9023	564	20	3		3	LRRC8C	1	90180448	Silent	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	3139275	90180448	159070173	56	14573											
LRRC8D	55144	broad.mit.edu	37	chr1	90400076	90400076	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcatgctgtcgggggtgccCgatgctgtctttgacctcac	4	13	12	12	2	3	1	2	1	1	0	4	2	3	1	2	2	3	2	2	2	0	2	rs370858889		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:90400076C>T	ENST00000337338.5	+	3	1856	c.1449C>T	c.(1447-1449)ccC>ccT	p.P483P	LRRC8D_ENST00000394593.3_Silent_p.P483P	NM_001134479.1	NP_001127951.1	Q7L1W4	LRC8D_HUMAN	leucine rich repeat containing 8 family, member D	483					ion transport (GO:0006811)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(10)|ovary(2)|skin(1)	29		all_lung(203;0.0894)|Lung NSC(277;0.227)		all cancers(265;0.0109)|Epithelial(280;0.0427)		CGGGGGTGCCCGATGCTGTCT	0.468																																						ENST00000337338.5																			0				breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(10)|ovary(2)|skin(1)	29						c.(1447-1449)ccC>ccT		leucine rich repeat containing 8 family, member D		C	,	1,4405	2.1+/-5.4	0,1,2202	47	47	47		1449,1449	-1.8	1	1		47	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	LRRC8D	NM_001134479.1,NM_018103.4	,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,	483/859,483/859	90400076	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	55144					integral to membrane	protein binding	g.chr1:90400076C>T	AK001332	CCDS726.1	1p22.2	2008-02-05	2005-06-29	2005-06-29	ENSG00000171492	ENSG00000171492			16992	protein-coding gene	gene with protein product		612890	"leucine rich repeat containing 5"	LRRC5			Standard	NM_018103		Approved	FLJ10470	uc001dnn.3	Q7L1W4	OTTHUMG00000010583	ENST00000337338.5:c.1449C>T	1.37:g.90400076C>T						LRRC8D_ENST00000394593.3_Silent_p.P483P	p.P483P	NM_001134479.1	NP_001127951.1	Q7L1W4	LRC8D_HUMAN		all cancers(265;0.0109)|Epithelial(280;0.0427)	3	1856	+		all_lung(203;0.0894)|Lung NSC(277;0.227)	483					D3DT29|Q6UWB2|Q9NVW3	Silent	SNP	ENST00000337338.5	37	c.1449C>T	CCDS726.1																																																																																				0.468	LRRC8D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029203.2	NM_018103		20	55	0	0	0	1	0	20	55					T	90400076	C	T	90400076	2	4	305	1	0	0	0	0	0	0	0	1	9024	639	23	2		2	LRRC8D	1	90400076	Silent	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	219628	90400076	158850545	57	14574											
ZNF644	84146	broad.mit.edu	37	chr1	91406185	91406185	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgtacctgaggaaattccCgttactgtattgacacaatc	11	13	7	10	1	1	2	0	2	1	0	3	3	2	3	2	1	2	3	2	1	5	5	rs148356542		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:91406185C>T	ENST00000370440.1	-	3	943	c.726G>A	c.(724-726)acG>acA	p.T242T	ZNF644_ENST00000361321.5_Intron|ZNF644_ENST00000337393.5_Silent_p.T242T|ZNF644_ENST00000467231.1_Intron|ZNF644_ENST00000347275.5_Intron			Q9H582	ZN644_HUMAN	zinc finger protein 644	242					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(4)|endometrium(2)|large_intestine(10)|lung(21)|ovary(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	47		all_lung(203;0.00206)|Lung NSC(277;0.0519)|Lung SC(238;0.101)		all cancers(265;0.00102)|Epithelial(280;0.00766)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)|OV - Ovarian serous cystadenocarcinoma(397;0.173)		AGGAAATTCCCGTTACTGTAT	0.368													C|||	1	0.000199681	0	0	5008	,	,		19222	0.001		0	False		,,,				2504	0					ENST00000370440.1																			0				breast(4)|endometrium(2)|large_intestine(10)|lung(21)|ovary(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						c.(724-726)acG>acA		zinc finger protein 644							162	165	164					1																	91406185		2201	4300	6501	SO:0001819	synonymous_variant	84146				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:91406185C>T	AB033047	CCDS731.1, CCDS732.1	1p22.2	2008-02-05			ENSG00000122482	ENSG00000122482			29222	protein-coding gene	gene with protein product		614159				10574462	Standard	NM_032186		Approved	KIAA1221, BM-005, MGC60165, MGC70410	uc001dnw.3	Q9H582	OTTHUMG00000010078	ENST00000370440.1:c.726G>A	1.37:g.91406185C>T						ZNF644_ENST00000347275.5_Intron|ZNF644_ENST00000467231.1_Intron|ZNF644_ENST00000361321.5_Intron|ZNF644_ENST00000337393.5_Silent_p.T242T	p.T242T			Q9H582	ZN644_HUMAN		all cancers(265;0.00102)|Epithelial(280;0.00766)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)|OV - Ovarian serous cystadenocarcinoma(397;0.173)	3	943	-		all_lung(203;0.00206)|Lung NSC(277;0.0519)|Lung SC(238;0.101)	242					A2RU71|Q2TAM0|Q5TCC0|Q6BEP7|Q6P446|Q6PI06|Q7LG67|Q9ULJ9	Silent	SNP	ENST00000370440.1	37	c.726G>A	CCDS731.1																																																																																				0.368	ZNF644-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027846.2	NM_032186		12	159	0	0	0	1	0	12	159					T	91406185	C	T	91406185	2	4	305	1	0	0	0	0	0	0	0	1	18057	639	23	2		2	ZNF644	1	91406185	Silent	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	1006109	91406185	157844436	58	14575											
EPHX4	253152	broad.mit.edu	37	chr1	92511122	92511122	+	Frame_Shift_Del	DEL	G	G	-																															tgttcttattggccatgactGggggggcatgattgcttggc																										TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:92511122delG	ENST00000370383.4	+	4	607	c.509delG	c.(508-510)tggfs	p.W170fs		NM_173567.4	NP_775838.3	Q8IUS5	EPHX4_HUMAN	epoxide hydrolase 4	170						integral component of membrane (GO:0016021)	hydrolase activity (GO:0016787)			central_nervous_system(1)|large_intestine(3)|lung(8)	12						GGCCATGACTGGGGGGGCATG	0.388																																					GBM(140;473 1857 5172 22066 49719)	ENST00000370383.4																			0				central_nervous_system(1)|large_intestine(3)|lung(8)	12						c.(508-510)tgfs		epoxide hydrolase 4							213	184	194					1																	92511122		2203	4300	6503	SO:0001589	frameshift_variant	253152					integral to membrane	hydrolase activity	g.chr1:92511122delG	AK074822	CCDS736.1	1p22.1	2011-10-05	2009-04-06	2009-04-06	ENSG00000172031	ENSG00000172031		"Abhydrolase domain containing"	23758	protein-coding gene	gene with protein product			"abhydrolase domain containing 7"	ABHD7		12477932	Standard	NM_173567		Approved	EPHXRP, FLJ90341	uc001don.2	Q8IUS5	OTTHUMG00000010114	ENST00000370383.4:c.509delG	1.37:g.92511122delG	ENSP00000359410:p.Trp170fs						p.W170fs	NM_173567.4	NP_775838.3	Q8IUS5	EPHX4_HUMAN			4	607	+			170					Q8NCC6	Frame_Shift_Del	DEL	ENST00000370383.4	37	c.509delG	CCDS736.1																																																																																				0.388	EPHX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027985.1	NM_173567		8	105						8	105	---	---	---	---	-	92511122	G	-	92511122	7	5	305	1	0	1	0	1	0	0	0	0	5182	1357	47	0	523	0	EPHX4	1	92511122	Frame_Shift_Del	DEL	G	TCGA-KK-A59V-01A-11D-A29Q-08	1104937	92511122	156739499	59	14576											
DPH5	51611	broad.mit.edu	37	chr1	101456141	101456141	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gctgcaattttctggtcgtcGgctccaaccctggctaagcc	6	11	10	14	2	1	0	0	0	1	0	4	0	2	0	3	3	3	4	3	3	3	3			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:101456141G>A	ENST00000370109.3	-	8	793	c.681C>T	c.(679-681)gcC>gcT	p.A227A	AC093157.1_ENST00000593496.1_Silent_p.S45S|DPH5_ENST00000370105.3_5'UTR|DPH5_ENST00000342173.7_Silent_p.A226A|DPH5_ENST00000427040.2_5'UTR|DPH5_ENST00000488176.1_Silent_p.A227A	NM_001077394.1|NM_001077395.1|NM_015958.2	NP_001070862.1|NP_001070863.1|NP_057042.2	Q9H2P9	DPH5_HUMAN	diphthamide biosynthesis 5	227					peptidyl-diphthamide biosynthetic process from peptidyl-histidine (GO:0017183)		diphthine synthase activity (GO:0004164)			endometrium(2)|large_intestine(1)|lung(4)	7		all_epithelial(167;3.1e-06)|all_lung(203;0.000414)|Lung NSC(277;0.000946)		Epithelial(280;0.0385)|all cancers(265;0.043)|COAD - Colon adenocarcinoma(174;0.151)|Colorectal(144;0.173)|Lung(183;0.198)		TCTGGTCGTCGGCTCCAACCC	0.448																																						ENST00000593496.1																			0											c.(133-135)tcG>tcA									93	91	92					1																	101456141		1972	4145	6117	SO:0001819	synonymous_variant	0							g.chr1:101456141G>A	AF132964	CCDS41358.1, CCDS41359.1	1p21.2	2013-05-02	2013-05-02		ENSG00000117543	ENSG00000117543			24270	protein-coding gene	gene with protein product		611075	"DPH5 homolog (S. cerevisiae)"			15485916, 23486472	Standard	NM_015958		Approved	CGI-30	uc001dtt.2	Q9H2P9	OTTHUMG00000010829	ENST00000370109.3:c.681C>T	1.37:g.101456141G>A						DPH5_ENST00000342173.7_Silent_p.A226A|DPH5_ENST00000370109.3_Silent_p.A227A|DPH5_ENST00000370105.3_5'UTR|DPH5_ENST00000488176.1_Silent_p.A227A|DPH5_ENST00000427040.2_5'UTR	p.S45S							1	381	+								A8JZY6|D3DT62|Q9P017|Q9P0I4|Q9Y319	Silent	SNP	ENST00000370109.3	37	c.135G>A	CCDS41358.1																																																																																				0.448	DPH5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000029881.1	NM_015958		23	51	0	0	0	1	0	23	51					A	101456141	G	A	101456141	2	1	305	1	0	0	0	0	0	0	0	1	4723	1103	39	2		2	DPH5	1	101456141	Silent	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	8945019	101456141	147794480	60	14577											
AMY2B	280	broad.mit.edu	37	chr1	104117870	104117870	+	Missense_Mutation	SNP	A	A	G																															ggggagaaggttggggtttcAtgccttctgacagagcactt																										TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:104117870A>G	ENST00000361355.4	+	8	1520	c.904A>G	c.(904-906)Atg>Gtg	p.M302V	AMY2B_ENST00000491397.1_3'UTR	NM_020978.3	NP_066188.1	P19961	AMY2B_HUMAN	amylase, alpha 2B (pancreatic)	302					carbohydrate metabolic process (GO:0005975)|digestion (GO:0007586)	extracellular vesicular exosome (GO:0070062)	alpha-amylase activity (GO:0004556)|metal ion binding (GO:0046872)			breast(1)|endometrium(7)|kidney(4)|large_intestine(1)|lung(30)|prostate(1)|skin(1)|urinary_tract(1)	46		all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451)		Colorectal(144;0.0669)|all cancers(265;0.083)|Epithelial(280;0.094)|Lung(183;0.112)		TTGGGGTTTCATGCCTTCTGA	0.418																																						ENST00000361355.4																			0				breast(1)|endometrium(7)|kidney(4)|large_intestine(1)|lung(30)|prostate(1)|skin(1)|urinary_tract(1)	46						c.(904-906)Atg>Gtg		amylase, alpha 2B (pancreatic)							287	288	288					1																	104117870		2203	4297	6500	SO:0001583	missense	280				carbohydrate metabolic process|digestion	extracellular region	alpha-amylase activity|metal ion binding	g.chr1:104117870A>G	M24895	CCDS782.1	1p21	2010-08-02	2006-04-27		ENSG00000240038	ENSG00000240038	3.2.1.1		478	protein-coding gene	gene with protein product		104660	"amylase, alpha 2B; pancreatic"	AMY2		8268204	Standard	NM_020978		Approved		uc001duq.3	P19961	OTTHUMG00000011024	ENST00000361355.4:c.904A>G	1.37:g.104117870A>G	ENSP00000354610:p.Met302Val					AMY2B_ENST00000491397.1_3'UTR	p.M302V	NM_020978.3	NP_066188.1	P19961	AMY2B_HUMAN		Colorectal(144;0.0669)|all cancers(265;0.083)|Epithelial(280;0.094)|Lung(183;0.112)	8	1520	+		all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451)	302					B3KTI1|B3KXB7|D3DT76|Q9UBH3	Missense_Mutation	SNP	ENST00000361355.4	37	c.904A>G	CCDS782.1	.	.	.	.	.	.	.	.	.	.	A	6.945	0.544147	0.13312	.	.	ENSG00000240038	ENST00000361355	D	0.98221	-4.8	5.26	4.14	0.48551	Glycoside hydrolase, subgroup, catalytic domain (1);Glycosyl hydrolase, family 13, catalytic domain (1);Glycoside hydrolase, superfamily (1);Glycosyl hydrolase, family 13, subfamily, catalytic domain (1);	0.260843	0.47852	N	0.000215	D	0.93667	0.7977	L	0.47016	1.485	0.43841	D	0.996425	B	0.15719	0.014	B	0.21917	0.037	D	0.90306	0.4333	10	0.33141	T	0.24	.	10.4005	0.44227	0.8599:0.0:0.1401:0.0	.	302	P19961	AMY2B_HUMAN	V	302	ENSP00000354610:M302V	ENSP00000354610:M302V	M	+	1	0	AMY2B	103919393	0.994000	0.37717	1.000000	0.80357	0.960000	0.62799	2.200000	0.42724	0.790000	0.33803	-0.675000	0.03792	ATG		0.418	AMY2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030318.1	NM_020978		8	407	0	0	0	1	0	8	407					G	104117870	A	G	104117870	3	3	305	1	0	0	0	0	1	0	0	0	595	217	8	4	926	4	AMY2B	1	104117870	Missense_Mutation	SNP	A	TCGA-KK-A59V-01A-11D-A29Q-08	2661729	104117870	145132751	61	14578	73	2									
AMY2B	280	broad.mit.edu	37	chr1	104117872	104117872	+	Missense_Mutation	SNP	G	G	A																															ggagaaggttggggtttcatGccttctgacagagcacttgt																										TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:104117872G>A	ENST00000361355.4	+	8	1522	c.906G>A	c.(904-906)atG>atA	p.M302I	AMY2B_ENST00000491397.1_3'UTR	NM_020978.3	NP_066188.1	P19961	AMY2B_HUMAN	amylase, alpha 2B (pancreatic)	302					carbohydrate metabolic process (GO:0005975)|digestion (GO:0007586)	extracellular vesicular exosome (GO:0070062)	alpha-amylase activity (GO:0004556)|metal ion binding (GO:0046872)			breast(1)|endometrium(7)|kidney(4)|large_intestine(1)|lung(30)|prostate(1)|skin(1)|urinary_tract(1)	46		all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451)		Colorectal(144;0.0669)|all cancers(265;0.083)|Epithelial(280;0.094)|Lung(183;0.112)		GGGGTTTCATGCCTTCTGACA	0.418																																						ENST00000361355.4																			0				breast(1)|endometrium(7)|kidney(4)|large_intestine(1)|lung(30)|prostate(1)|skin(1)|urinary_tract(1)	46						c.(904-906)atG>atA		amylase, alpha 2B (pancreatic)							286	287	287					1																	104117872		2203	4297	6500	SO:0001583	missense	280				carbohydrate metabolic process|digestion	extracellular region	alpha-amylase activity|metal ion binding	g.chr1:104117872G>A	M24895	CCDS782.1	1p21	2010-08-02	2006-04-27		ENSG00000240038	ENSG00000240038	3.2.1.1		478	protein-coding gene	gene with protein product		104660	"amylase, alpha 2B; pancreatic"	AMY2		8268204	Standard	NM_020978		Approved		uc001duq.3	P19961	OTTHUMG00000011024	ENST00000361355.4:c.906G>A	1.37:g.104117872G>A	ENSP00000354610:p.Met302Ile					AMY2B_ENST00000491397.1_3'UTR	p.M302I	NM_020978.3	NP_066188.1	P19961	AMY2B_HUMAN		Colorectal(144;0.0669)|all cancers(265;0.083)|Epithelial(280;0.094)|Lung(183;0.112)	8	1522	+		all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451)	302					B3KTI1|B3KXB7|D3DT76|Q9UBH3	Missense_Mutation	SNP	ENST00000361355.4	37	c.906G>A	CCDS782.1	.	.	.	.	.	.	.	.	.	.	G	15.29	2.791094	0.50102	.	.	ENSG00000240038	ENST00000361355	D	0.98280	-4.84	5.26	4.32	0.51571	Glycoside hydrolase, subgroup, catalytic domain (1);Glycosyl hydrolase, family 13, catalytic domain (1);Glycoside hydrolase, superfamily (1);Glycosyl hydrolase, family 13, subfamily, catalytic domain (1);	0.260843	0.47852	D	0.000215	D	0.95456	0.8524	L	0.48362	1.52	0.52099	D	0.999945	B	0.21905	0.062	B	0.29440	0.102	D	0.93931	0.7214	10	0.41790	T	0.15	.	15.9828	0.80125	0.0:0.1344:0.8656:0.0	.	302	P19961	AMY2B_HUMAN	I	302	ENSP00000354610:M302I	ENSP00000354610:M302I	M	+	3	0	AMY2B	103919395	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	6.702000	0.74628	2.462000	0.83206	0.558000	0.71614	ATG		0.418	AMY2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030318.1	NM_020978		8	405	0	0	0	1	0	8	405					A	104117872	G	A	104117872	3	1	305	1	0	0	0	0	1	0	0	0	595	1319	46	3	928	3	AMY2B	1	104117872	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	2	104117872	145132749	62	14579	73	2									
AMY2B	280	broad.mit.edu	37	chr1	104117887	104117887	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcatgccttctgacagagcActtgtctttgtggataacca	9	14	8	10	0	3	2	1	1	2	1	3	3	3	3	2	1	3	1	2	1	1	5			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:104117887A>G	ENST00000361355.4	+	8	1537	c.921A>G	c.(919-921)gcA>gcG	p.A307A	AMY2B_ENST00000491397.1_3'UTR	NM_020978.3	NP_066188.1	P19961	AMY2B_HUMAN	amylase, alpha 2B (pancreatic)	307					carbohydrate metabolic process (GO:0005975)|digestion (GO:0007586)	extracellular vesicular exosome (GO:0070062)	alpha-amylase activity (GO:0004556)|metal ion binding (GO:0046872)			breast(1)|endometrium(7)|kidney(4)|large_intestine(1)|lung(30)|prostate(1)|skin(1)|urinary_tract(1)	46		all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451)		Colorectal(144;0.0669)|all cancers(265;0.083)|Epithelial(280;0.094)|Lung(183;0.112)		CTGACAGAGCACTTGTCTTTG	0.413																																						ENST00000361355.4																			0				breast(1)|endometrium(7)|kidney(4)|large_intestine(1)|lung(30)|prostate(1)|skin(1)|urinary_tract(1)	46						c.(919-921)gcA>gcG		amylase, alpha 2B (pancreatic)							285	283	283					1																	104117887		2203	4298	6501	SO:0001819	synonymous_variant	280				carbohydrate metabolic process|digestion	extracellular region	alpha-amylase activity|metal ion binding	g.chr1:104117887A>G	M24895	CCDS782.1	1p21	2010-08-02	2006-04-27		ENSG00000240038	ENSG00000240038	3.2.1.1		478	protein-coding gene	gene with protein product		104660	"amylase, alpha 2B; pancreatic"	AMY2		8268204	Standard	NM_020978		Approved		uc001duq.3	P19961	OTTHUMG00000011024	ENST00000361355.4:c.921A>G	1.37:g.104117887A>G						AMY2B_ENST00000491397.1_3'UTR	p.A307A	NM_020978.3	NP_066188.1	P19961	AMY2B_HUMAN		Colorectal(144;0.0669)|all cancers(265;0.083)|Epithelial(280;0.094)|Lung(183;0.112)	8	1537	+		all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451)	307					B3KTI1|B3KXB7|D3DT76|Q9UBH3	Silent	SNP	ENST00000361355.4	37	c.921A>G	CCDS782.1																																																																																				0.413	AMY2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030318.1	NM_020978		9	390	0	0	0	1	0	9	390					G	104117887	A	G	104117887	2	3	305	1	0	0	0	0	0	0	0	1	595	146	6	4		4	AMY2B	1	104117887	Silent	SNP	A	TCGA-KK-A59V-01A-11D-A29Q-08	15	104117887	145132734	63	14580											
FAM102B	284611	broad.mit.edu	37	chr1	109103056	109103058	+	In_Frame_Del	DEL	GAA	GAA	-																															cgcctggctctcacgatgatGaagaagaagaagtttaagtt																										TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:109103056_109103058delGAA	ENST00000370035.3	+	1	346_348	c.6_8delGAA	c.(4-9)atgaag>atg	p.K6del	FAM102B_ENST00000405454.1_In_Frame_Del_p.K6del	NM_001010883.2	NP_001010883.2	Q5T8I3	F102B_HUMAN	family with sequence similarity 102, member B	6	Poly-Lys.									autonomic_ganglia(1)|kidney(1)|large_intestine(1)|lung(1)|skin(1)	5		all_epithelial(167;5.52e-05)|all_lung(203;0.00026)|Lung NSC(277;0.000508)		Colorectal(144;0.0217)|Lung(183;0.109)|COAD - Colon adenocarcinoma(174;0.141)|Epithelial(280;0.182)		TCACGATGATGAAGAAGAAGAAG	0.64																																						ENST00000370035.3																			0				autonomic_ganglia(1)|kidney(1)|large_intestine(1)|lung(1)|skin(1)	5						c.(4-9)atg>at		family with sequence similarity 102, member B				4,4262		1,2,2130						1.8	1			39	31,8221		11,9,4106	no	coding	FAM102B	NM_001010883.2		12,11,6236	A1A1,A1R,RR		0.3757,0.0938,0.2796				35,12483				SO:0001651	inframe_deletion	284611							g.chr1:109103056_109103058delGAA	CR749397	CCDS30786.2	1p13.3	2012-11-05			ENSG00000162636	ENSG00000162636			27637	protein-coding gene	gene with protein product	"sym-3 homolog B (C. elegans)"						Standard	NM_001010883		Approved	DKFZp779B126, SYM-3B	uc010ouy.2	Q5T8I3	OTTHUMG00000010967	ENST00000370035.3:c.6_8delGAA	1.37:g.109103065_109103067delGAA	ENSP00000359052:p.Lys6del					FAM102B_ENST00000405454.1_In_Frame_Del_p.MK2del	p.MK2del	NM_001010883.2	NP_001010883.2	Q5T8I3	F102B_HUMAN		Colorectal(144;0.0217)|Lung(183;0.109)|COAD - Colon adenocarcinoma(174;0.141)|Epithelial(280;0.182)	1	346_348	+		all_epithelial(167;5.52e-05)|all_lung(203;0.00026)|Lung NSC(277;0.000508)	2					A1L1A1|B0QZ46|B0QZ47|Q68DH7	In_Frame_Del	DEL	ENST00000370035.3	37	c.6_8delGAA	CCDS30786.2																																																																																				0.64	FAM102B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030188.3	NM_001010883		9	27						9	27	---	---	---	---	-	109103058	GAA	-	109103056	7	5	305	1	0	1	0	1	0	0	0	0	5383	1290	45	0	8	0	FAM102B	1	109103056	In_Frame_Del	DEL	GAA	TCGA-KK-A59V-01A-11D-A29Q-08	4985169	109103056	140147565	64	14581											
FAM102B	284611	broad.mit.edu	37	chr1	109177768	109177768	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgaacaagttgtgatcaaacGctagaagtcaagtcggtgaa	15	9	11	6	2	2	4	2	3	0	1	3	4	2	4	0	1	2	2	0	1	7	2			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:109177768G>A	ENST00000370035.3	+	11	1419	c.1079G>A	c.(1078-1080)cGc>cAc	p.R360H	FAM102B_ENST00000405454.1_Intron	NM_001010883.2	NP_001010883.2	Q5T8I3	F102B_HUMAN	family with sequence similarity 102, member B	360										autonomic_ganglia(1)|kidney(1)|large_intestine(1)|lung(1)|skin(1)	5		all_epithelial(167;5.52e-05)|all_lung(203;0.00026)|Lung NSC(277;0.000508)		Colorectal(144;0.0217)|Lung(183;0.109)|COAD - Colon adenocarcinoma(174;0.141)|Epithelial(280;0.182)		GTGATCAAACGCTAGAAGTCA	0.373																																						ENST00000370035.3																			0				autonomic_ganglia(1)|kidney(1)|large_intestine(1)|lung(1)|skin(1)	5						c.(1078-1080)cGc>cAc		family with sequence similarity 102, member B							172	168	169					1																	109177768		2203	4300	6503	SO:0001583	missense	284611							g.chr1:109177768G>A	CR749397	CCDS30786.2	1p13.3	2012-11-05			ENSG00000162636	ENSG00000162636			27637	protein-coding gene	gene with protein product	"sym-3 homolog B (C. elegans)"						Standard	NM_001010883		Approved	DKFZp779B126, SYM-3B	uc010ouy.2	Q5T8I3	OTTHUMG00000010967	ENST00000370035.3:c.1079G>A	1.37:g.109177768G>A	ENSP00000359052:p.Arg360His					FAM102B_ENST00000405454.1_Intron	p.R360H	NM_001010883.2	NP_001010883.2	Q5T8I3	F102B_HUMAN		Colorectal(144;0.0217)|Lung(183;0.109)|COAD - Colon adenocarcinoma(174;0.141)|Epithelial(280;0.182)	11	1419	+		all_epithelial(167;5.52e-05)|all_lung(203;0.00026)|Lung NSC(277;0.000508)	360					A1L1A1|B0QZ46|B0QZ47|Q68DH7	Missense_Mutation	SNP	ENST00000370035.3	37	c.1079G>A	CCDS30786.2	.	.	.	.	.	.	.	.	.	.	G	20.8	4.047519	0.75846	.	.	ENSG00000162636	ENST00000370035	.	.	.	5.97	5.97	0.96955	.	0.100050	0.64402	D	0.000001	T	0.33990	0.0882	N	0.19112	0.55	0.80722	D	1	B	0.28850	0.225	B	0.20184	0.028	T	0.30297	-0.9983	9	0.72032	D	0.01	.	20.4135	0.99023	0.0:0.0:1.0:0.0	.	360	Q5T8I3	F102B_HUMAN	H	360	.	ENSP00000359052:R360H	R	+	2	0	FAM102B	108979291	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.970000	0.70431	2.835000	0.97688	0.591000	0.81541	CGC		0.373	FAM102B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030188.3	NM_001010883		26	63	0	0	0	1	0	26	63					A	109177768	G	A	109177768	3	1	305	1	0	0	0	0	1	0	0	0	5383	1087	38	1	1121	1	FAM102B	1	109177768	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	74712	109177768	140072853	65	14582											
STXBP3	6814	broad.mit.edu	37	chr1	109336253	109336253	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gaaaaagatgccccatttccGaaaacagattactaaggtaa	18	8	7	8	1	0	2	0	0	0	2	1	4	1	2	3	1	3	1	3	1	7	4	rs147446724		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:109336253G>A	ENST00000370008.3	+	12	1063	c.1013G>A	c.(1012-1014)cGa>cAa	p.R338Q		NM_007269.2	NP_009200.2	O00186	STXB3_HUMAN	syntaxin binding protein 3	338					blood coagulation (GO:0007596)|membrane organization (GO:0061024)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|neutrophil degranulation (GO:0043312)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|protein heterooligomerization (GO:0051291)|protein transport (GO:0015031)|vesicle docking involved in exocytosis (GO:0006904)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|platelet alpha granule (GO:0031091)|specific granule (GO:0042581)|tertiary granule (GO:0070820)	syntaxin binding (GO:0019905)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|ovary(3)|urinary_tract(1)	13		all_epithelial(167;0.000154)|all_lung(203;0.00026)|Lung NSC(277;0.000508)		Colorectal(144;0.0386)|Lung(183;0.104)|COAD - Colon adenocarcinoma(174;0.137)|Epithelial(280;0.231)		CCCCATTTCCGAAAACAGATT	0.338													G|||	1	0.000199681	0	0	5008	,	,		17240	0		0.001	False		,,,				2504	0					ENST00000370008.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|ovary(3)|urinary_tract(1)	13						c.(1012-1014)cGa>cAa		syntaxin binding protein 3		G	GLN/ARG	0,4406		0,0,2203	112	112	112		1013	5.2	1	1	dbSNP_134	112	2,8596	2.2+/-6.3	0,2,4297	no	missense	STXBP3	NM_007269.2	43	0,2,6500	AA,AG,GG		0.0233,0.0,0.0154	possibly-damaging	338/593	109336253	2,13002	2203	4299	6502	SO:0001583	missense	6814				negative regulation of calcium ion-dependent exocytosis|neutrophil degranulation|platelet aggregation|protein transport|vesicle docking involved in exocytosis	cytosol|nucleus|platelet alpha granule|specific granule|tertiary granule	syntaxin-2 binding	g.chr1:109336253G>A	D63506	CCDS790.1	1p13.3	2008-02-05			ENSG00000116266	ENSG00000116266			11446	protein-coding gene	gene with protein product		608339				10194441	Standard	NM_007269		Approved	UNC-18C	uc001dvy.3	O00186	OTTHUMG00000011122	ENST00000370008.3:c.1013G>A	1.37:g.109336253G>A	ENSP00000359025:p.Arg338Gln						p.R338Q	NM_007269.2	NP_009200.2	O00186	STXB3_HUMAN		Colorectal(144;0.0386)|Lung(183;0.104)|COAD - Colon adenocarcinoma(174;0.137)|Epithelial(280;0.231)	12	1063	+		all_epithelial(167;0.000154)|all_lung(203;0.00026)|Lung NSC(277;0.000508)	338					A8K269|A8K5K7|Q53FW1|Q86YJ3|Q9UPD7	Missense_Mutation	SNP	ENST00000370008.3	37	c.1013G>A	CCDS790.1	.	.	.	.	.	.	.	.	.	.	G	8.045	0.764804	0.15914	0.0	2.33E-4	ENSG00000116266	ENST00000370008	T	0.74315	-0.83	5.2	5.2	0.72013	.	0.000000	0.85682	D	0.000000	T	0.62684	0.2448	N	0.11892	0.195	0.53688	D	0.999972	D	0.89917	1.0	D	0.77557	0.99	T	0.61549	-0.7040	10	0.02654	T	1	-11.8175	19.0952	0.93248	0.0:0.0:1.0:0.0	.	338	O00186	STXB3_HUMAN	Q	338	ENSP00000359025:R338Q	ENSP00000359025:R338Q	R	+	2	0	STXBP3	109137776	1.000000	0.71417	0.998000	0.56505	0.994000	0.84299	5.445000	0.66594	2.591000	0.87537	0.563000	0.77884	CGA		0.338	STXBP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030591.1	NM_007269		19	42	0	0	0	1	0	19	42					A	109336253	G	A	109336253	3	1	305	1	0	0	0	0	1	0	0	0	15353	1058	37	2	1059	2	STXBP3	1	109336253	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	158485	109336253	139914368	66	14583											
KCND3	3752	broad.mit.edu	37	chr1	112318870	112318870	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgcagtttggtctcagtccGtcgtctgctttcaaattaag	7	16	9	9	2	3	0	2	0	2	0	6	0	4	0	1	1	2	3	1	1	2	4			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:112318870G>A	ENST00000315987.2	-	8	2276	c.1797C>T	c.(1795-1797)gaC>gaT	p.D599D	KCND3_ENST00000302127.4_Silent_p.D580D|KCND3_ENST00000369697.1_Silent_p.D580D	NM_004980.4	NP_004971.2	Q9UK17	KCND3_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 3	599					cell death (GO:0008219)|membrane repolarization (GO:0086009)|potassium ion export (GO:0071435)|potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|neuronal cell body (GO:0043025)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	A-type (transient outward) potassium channel activity (GO:0005250)|ion channel binding (GO:0044325)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	49		all_cancers(81;8.52e-06)|all_epithelial(167;5.65e-06)|all_lung(203;2.72e-05)|Lung NSC(69;4.56e-05)		all cancers(265;0.056)|Lung(183;0.0576)|Colorectal(144;0.1)|Epithelial(280;0.104)|COAD - Colon adenocarcinoma(174;0.222)|LUSC - Lung squamous cell carcinoma(189;0.231)	Amitriptyline(DB00321)|Dalfampridine(DB06637)|Disopyramide(DB00280)|Imipramine(DB00458)	GTCTCAGTCCGTCGTCTGCTT	0.557																																						ENST00000369697.1																			0				NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	49						c.(1738-1740)gaC>gaT		potassium voltage-gated channel, Shal-related subfamily, member 3							121	106	111					1																	112318870		2203	4300	6503	SO:0001819	synonymous_variant	3752					sarcolemma|voltage-gated potassium channel complex	A-type (transient outward) potassium channel activity|metal ion binding	g.chr1:112318870G>A	AF048713	CCDS843.1, CCDS844.1	1p13.2	2014-09-17			ENSG00000171385	ENSG00000171385		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6239	protein-coding gene	gene with protein product		605411	"spinocerebellar ataxia 22", "spinocerebellar ataxia 19"	SCA22, SCA19		10942109, 16382104, 23280837	Standard	NM_172198		Approved	Kv4.3, KSHIVB	uc001ebu.1	Q9UK17	OTTHUMG00000011989	ENST00000315987.2:c.1797C>T	1.37:g.112318870G>A						KCND3_ENST00000315987.2_Silent_p.D599D|KCND3_ENST00000302127.4_Silent_p.D580D	p.D580D			Q9UK17	KCND3_HUMAN		all cancers(265;0.056)|Lung(183;0.0576)|Colorectal(144;0.1)|Epithelial(280;0.104)|COAD - Colon adenocarcinoma(174;0.222)|LUSC - Lung squamous cell carcinoma(189;0.231)	6	1809	-		all_cancers(81;8.52e-06)|all_epithelial(167;5.65e-06)|all_lung(203;2.72e-05)|Lung NSC(69;4.56e-05)	599					O60576|O60577|Q14D71|Q5T0M0|Q9UH85|Q9UH86|Q9UK16	Silent	SNP	ENST00000315987.2	37	c.1740C>T	CCDS843.1																																																																																				0.557	KCND3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000033144.1	NM_172198		14	36	0	0	0	1	0	14	36					A	112318870	G	A	112318870	2	1	305	1	0	0	0	0	0	0	0	1	8020	1136	40	1		1	KCND3	1	112318870	Silent	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	2982617	112318870	136931751	67	14584											
WNT2B	7482	broad.mit.edu	37	chr1	113057604	113057604	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacatcatgcgttcagtgggCgagggtgcccgagaatggat	9	8	16	8	3	2	1	2	0	0	1	2	5	2	2	1	3	2	1	1	3	1	1	rs535167553		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:113057604C>T	ENST00000369684.4	+	2	776	c.291C>T	c.(289-291)ggC>ggT	p.G97G	WNT2B_ENST00000478360.1_3'UTR|WNT2B_ENST00000256640.5_Silent_p.G5G|RP4-671G15.2_ENST00000608357.1_RNA|WNT2B_ENST00000369686.5_Silent_p.G78G	NM_024494.2	NP_078613.1	Q93097	WNT2B_HUMAN	wingless-type MMTV integration site family, member 2B	97					canonical Wnt signaling pathway (GO:0060070)|cell fate commitment (GO:0045165)|cellular response to starvation (GO:0009267)|chondrocyte differentiation (GO:0002062)|cornea development in camera-type eye (GO:0061303)|forebrain regionalization (GO:0021871)|hematopoietic stem cell proliferation (GO:0071425)|iris morphogenesis (GO:0061072)|lens development in camera-type eye (GO:0002088)|lung induction (GO:0060492)|male gonad development (GO:0008584)|mesenchymal-epithelial cell signaling (GO:0060638)|neuron differentiation (GO:0030182)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|Wnt signaling pathway (GO:0016055)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)			breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(4)|ovary(2)|skin(1)|stomach(1)	18	Lung SC(450;0.246)	all_cancers(81;7.31e-07)|all_epithelial(167;4.59e-06)|all_lung(203;2.56e-05)|Lung NSC(69;4.38e-05)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GTTCAGTGGGCGAGGGTGCCC	0.622													C|||	1	0.000199681	0	0	5008	,	,		17803	0.001		0	False		,,,				2504	0					ENST00000369684.4																			0				breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(4)|ovary(2)|skin(1)|stomach(1)	18						c.(289-291)ggC>ggT		wingless-type MMTV integration site family, member 2B							95	80	85					1																	113057604		2203	4300	6503	SO:0001819	synonymous_variant	7482				chondrocyte differentiation|cornea development in camera-type eye|dorsal/ventral axis specification|forebrain regionalization|hemopoietic stem cell proliferation|iris morphogenesis|lens development in camera-type eye|lung induction|male gonad development|neuron differentiation|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	frizzled-2 binding|signal transducer activity	g.chr1:113057604C>T	AB045116	CCDS847.1, CCDS846.1	1p13	2008-07-18			ENSG00000134245	ENSG00000134245		"Wingless-type MMTV integration sites"	12781	protein-coding gene	gene with protein product	"XWNT2, Xenopus, homolog of", "wingless-type MMTV integration site family, member 13"	601968		WNT13		8761309, 10944466	Standard	NM_024494		Approved	XWNT2	uc001ecb.3	Q93097	OTTHUMG00000011157	ENST00000369684.4:c.291C>T	1.37:g.113057604C>T						WNT2B_ENST00000369686.4_Silent_p.G78G|WNT2B_ENST00000478360.1_3'UTR|WNT2B_ENST00000256640.5_Silent_p.G5G	p.G97G	NM_024494.2	NP_078613.1	Q93097	WNT2B_HUMAN		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	2	776	+	Lung SC(450;0.246)	all_cancers(81;7.31e-07)|all_epithelial(167;4.59e-06)|all_lung(203;2.56e-05)|Lung NSC(69;4.38e-05)	97					O14903|Q5TEH9|Q5TEI2|Q9HDC1|Q9HDC2	Silent	SNP	ENST00000369684.4	37	c.291C>T	CCDS847.1																																																																																				0.622	WNT2B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030692.1	NM_004185		20	61	0	0	0	1	0	20	61					T	113057604	C	T	113057604	2	4	305	1	0	0	0	0	0	0	0	1	17384	755	27	1		1	WNT2B	1	113057604	Silent	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	738734	113057604	136193017	68	14585											
MAGI3	260425	broad.mit.edu	37	chr1	114226149	114226149	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcgaagaatagcaggctataCgggcagtaatgctgagcaga	14	7	13	7	2	0	3	0	1	0	2	1	4	0	3	0	2	4	6	0	2	6	4	rs372079100		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:114226149C>T	ENST00000307546.9	+	21	4034	c.3959C>T	c.(3958-3960)aCg>aTg	p.T1320M	MAGI3_ENST00000369615.1_3'UTR	NM_001142782.1	NP_001136254.1	Q5TCQ9	MAGI3_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 3	1345					apoptotic process (GO:0006915)|intracellular signal transduction (GO:0035556)|nucleotide phosphorylation (GO:0046939)|positive regulation of JUN kinase activity (GO:0043507)|viral process (GO:0016032)	membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	ATP binding (GO:0005524)|guanylate kinase activity (GO:0004385)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	41	Lung SC(450;0.184)	all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GCAGGCTATACGGGCAGTAAT	0.438																																						ENST00000307546.9																			0				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	41						c.(3958-3960)aCg>aTg		membrane associated guanylate kinase, WW and PDZ domain containing 3		C	MET/THR,	1,3135		0,1,1567	136	123	127		3959,	4.8	0	1		127	0,7164		0,0,3582	no	missense,utr-3	MAGI3	NM_001142782.1,NM_152900.2	81,	0,1,5149	TT,TC,CC		0.0,0.0319,0.0097	possibly-damaging,	1320/1482,	114226149	1,10299	1568	3582	5150	SO:0001583	missense	260425				apoptosis|interspecies interaction between organisms|intracellular signal transduction	nucleus|tight junction	ATP binding|guanylate kinase activity|protein binding	g.chr1:114226149C>T	AF213259	CCDS860.1, CCDS44196.1	1p12-p11.2	2008-02-05			ENSG00000081026	ENSG00000081026			29647	protein-coding gene	gene with protein product		615943				10997877, 10748157	Standard	NM_152900		Approved	MAGI-3	uc001edk.3	Q5TCQ9	OTTHUMG00000011737	ENST00000307546.9:c.3959C>T	1.37:g.114226149C>T	ENSP00000304604:p.Thr1320Met					MAGI3_ENST00000369615.1_3'UTR	p.T1320M	NM_001142782.1	NP_001136254.1	Q5TCQ9	MAGI3_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	21	4034	+	Lung SC(450;0.184)	all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-05)	1345					Q5TCQ8|Q5TCR0|Q9H2V6|Q9H5Y8|Q9HBC4|Q9HCD8	Missense_Mutation	SNP	ENST00000307546.9	37	c.3959C>T	CCDS44196.1	.	.	.	.	.	.	.	.	.	.	C	9.684	1.150142	0.21371	3.19E-4	0.0	ENSG00000081026	ENST00000307546;ENST00000546156	T	0.55234	0.53	5.75	4.84	0.62591	.	0.603326	0.14422	N	0.320570	T	0.11665	0.0284	N	0.08118	0	0.09310	N	0.999998	P	0.46064	0.872	B	0.35353	0.201	T	0.01688	-1.1295	10	0.44086	T	0.13	-5.9674	5.9117	0.19031	0.1924:0.6546:0.0:0.153	.	1320	Q5TCQ9-4	.	M	1320;360	ENSP00000304604:T1320M	ENSP00000304604:T1320M	T	+	2	0	MAGI3	114027672	0.000000	0.05858	0.002000	0.10522	0.000000	0.00434	0.247000	0.18179	1.452000	0.47756	-0.133000	0.14855	ACG		0.438	MAGI3-004	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000032429.1	NM_152900		35	88	0	0	0	1	0	35	88					T	114226149	C	T	114226149	3	4	305	1	0	0	0	0	1	0	0	0	9192	536	19	1	4095	1	MAGI3	1	114226149	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	1168545	114226149	135024472	69	14586											
CD160	11126	broad.mit.edu	37	chr1	145699022	145699022	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taggaagcctgaactgagagTgccttcattatggctgaact	11	11	11	8	0	1	3	1	3	0	1	1	5	1	4	2	2	4	1	2	2	5	3			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:145699022T>C	ENST00000369288.2	-	5	686	c.469A>G	c.(469-471)Act>Gct	p.T157A	CD160_ENST00000401557.3_Missense_Mutation_p.T157A|CD160_ENST00000235933.6_Missense_Mutation_p.T157A|CD160_ENST00000369290.1_Missense_Mutation_p.T48A	NM_007053.2	NP_008984.1	O95971	BY55_HUMAN	CD160 molecule	157					cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular defense response (GO:0006968)|defense response to Gram-negative bacterium (GO:0050829)|regulation of immune response (GO:0050776)	anchored component of plasma membrane (GO:0046658)|plasma membrane (GO:0005886)	MHC class I receptor activity (GO:0032393)|receptor activity (GO:0004872)|receptor binding (GO:0005102)			endometrium(3)|large_intestine(2)|lung(2)	7	all_hematologic(18;0.00473)|Acute lymphoblastic leukemia(18;0.0786)		KIRC - Kidney renal clear cell carcinoma(6;0.0764)|Kidney(552;0.118)|Colorectal(543;0.229)			GAACTGAGAGTGCCTTCATTA	0.488																																					Colon(182;1122 1999 4065 44014 53024)	ENST00000369290.1																			0				endometrium(3)|large_intestine(2)|lung(2)	7						c.(142-144)Act>Gct		CD160 molecule							195	150	165					1																	145699022		2203	4300	6503	SO:0001583	missense	11126				cell proliferation|cell surface receptor linked signaling pathway|cellular defense response|regulation of immune response	anchored to plasma membrane	MHC class I receptor activity|receptor binding	g.chr1:145699022T>C	AF060981	CCDS72861.1	1q21.2	2011-01-25	2006-03-28		ENSG00000117281	ENSG00000117281		"CD molecules"	17013	protein-coding gene	gene with protein product		604463	"CD160 antigen"			9743336, 9973372	Standard	NM_007053		Approved	BY55, NK1, NK28	uc001eol.1	O95971	OTTHUMG00000013749	ENST00000369288.2:c.469A>G	1.37:g.145699022T>C	ENSP00000358294:p.Thr157Ala					CD160_ENST00000401557.3_Missense_Mutation_p.T157A|CD160_ENST00000369288.2_Missense_Mutation_p.T157A|CD160_ENST00000235933.6_Missense_Mutation_p.T157A	p.T48A			O95971	BY55_HUMAN	KIRC - Kidney renal clear cell carcinoma(6;0.0764)|Kidney(552;0.118)|Colorectal(543;0.229)		3	299	-	all_hematologic(18;0.00473)|Acute lymphoblastic leukemia(18;0.0786)		157			Ig-like V-type.			Missense_Mutation	SNP	ENST00000369288.2	37	c.142A>G	CCDS923.1	.	.	.	.	.	.	.	.	.	.	T	13.57	2.276003	0.40294	.	.	ENSG00000117281	ENST00000235933;ENST00000369288;ENST00000369290;ENST00000401557	T;T;T	0.43294	0.95;0.95;0.95	4.6	-9.14	0.00701	.	1.883810	0.03072	N	0.157333	T	0.07503	0.0189	N	0.19112	0.55	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.12156	0.007;0.001	T	0.10474	-1.0628	10	0.45353	T	0.12	1.6287	2.1304	0.03749	0.2226:0.1346:0.1113:0.5315	.	48;157	Q5T2V6;O95971	.;BY55_HUMAN	A	157;157;48;157	ENSP00000235933:T157A;ENSP00000358294:T157A;ENSP00000385199:T157A	ENSP00000235933:T157A	T	-	1	0	CD160	144410379	0.000000	0.05858	0.000000	0.03702	0.605000	0.37080	-2.387000	0.01060	-1.438000	0.01965	0.533000	0.62120	ACT		0.488	CD160-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038532.2	NM_007053		5	70	0	0	0	1	0	5	70					C	145699022	T	C	145699022	3	2	305	1	0	0	0	0	1	0	0	0	2966	1696	59	4	84	4	CD160	1	145699022	Missense_Mutation	SNP	T	TCGA-KK-A59V-01A-11D-A29Q-08	31472873	145699022	103551599	70	14587											
GJA8	2703	broad.mit.edu	37	chr1	147380399	147380399	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgtccgcatggaggagaagcGcaaaagccgcgaggcggagg	11	2	18	10	6	0	1	0	0	0	1	1	5	1	3	2	5	2	2	2	5	3	0			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:147380399G>A	ENST00000369235.1	+	1	317	c.317G>A	c.(316-318)cGc>cAc	p.R106H	GJA8_ENST00000240986.4_Missense_Mutation_p.R106H			P48165	CXA8_HUMAN	gap junction protein, alpha 8, 50kDa	106					cell-cell signaling (GO:0007267)|lens development in camera-type eye (GO:0002088)|protein homooligomerization (GO:0051260)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	connexon complex (GO:0005922)|integral component of plasma membrane (GO:0005887)	channel activity (GO:0015267)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)	37	all_hematologic(923;0.0276)					GAGGAGAAGCGCAAAAGCCGC	0.652																																					Melanoma(76;1255 1795 8195 52096)	ENST00000240986.4																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)	37						c.(316-318)cGc>cAc		gap junction protein, alpha 8, 50kDa							68	65	66					1																	147380399		2203	4300	6503	SO:0001583	missense	2703				cell communication|visual perception	connexon complex|integral to plasma membrane	channel activity	g.chr1:147380399G>A	U34802	CCDS30834.1	1q21.1	2008-02-05	2007-01-16		ENSG00000121634	ENSG00000121634		"Ion channels / Gap junction proteins (connexins)"	4281	protein-coding gene	gene with protein product	"connexin 50"	600897	"gap junction protein, alpha 8, 50kD (connexin 50)", "gap junction protein, alpha 8, 50kDa (connexin 50)"	CAE1, CZP1, CAE		9497259, 7796604	Standard	NM_005267		Approved	CX50	uc001epu.2	P48165	OTTHUMG00000024085	ENST00000369235.1:c.317G>A	1.37:g.147380399G>A	ENSP00000358238:p.Arg106His					GJA8_ENST00000369235.1_Missense_Mutation_p.R106H	p.R106H	NM_005267.4	NP_005258.2	P48165	CXA8_HUMAN			2	370	+	all_hematologic(923;0.0276)		106					A7L5M5|Q5VVN9|Q9NP25	Missense_Mutation	SNP	ENST00000369235.1	37	c.317G>A	CCDS30834.1	.	.	.	.	.	.	.	.	.	.	g	17.29	3.351191	0.61183	.	.	ENSG00000121634	ENST00000240986;ENST00000369235	D;D	0.99089	-5.41;-5.41	5.2	4.28	0.50868	Connexin, N-terminal (1);	131.512000	0.00465	N	0.000112	D	0.98523	0.9507	L	0.35414	1.06	0.46298	D	0.998971	D	0.89917	1.0	D	0.76071	0.987	D	0.93551	0.6886	10	0.62326	D	0.03	.	10.5982	0.45352	0.1493:0.0:0.8507:0.0	.	106	P48165	CXA8_HUMAN	H	106	ENSP00000240986:R106H;ENSP00000358238:R106H	ENSP00000240986:R106H	R	+	2	0	GJA8	145847023	1.000000	0.71417	0.999000	0.59377	0.731000	0.41821	3.962000	0.56766	2.409000	0.81822	0.491000	0.48974	CGC		0.652	GJA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060647.1	NM_005267		33	70	0	0	0	1	0	33	70					A	147380399	G	A	147380399	3	1	305	1	0	0	0	0	1	0	0	0	6405	1087	38	1	319	1	GJA8	1	147380399	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	1681377	147380399	101870222	71	14588											
HIST2H2BE	8349	broad.mit.edu	37	chr1	149857821	149857821	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcagggactcacttggagcTggtgtacttggtgaccgcct	6	10	15	10	1	1	1	1	1	0	0	1	3	1	3	2	5	2	3	2	5	1	3			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:149857821T>C	ENST00000369155.2	-	1	411	c.370A>G	c.(370-372)Agc>Ggc	p.S124G	HIST2H2AC_ENST00000331380.2_5'Flank|BOLA1_ENST00000369153.2_5'Flank	NM_003528.2	NP_003519.1	Q16778	H2B2E_HUMAN	histone cluster 2, H2be	124					antibacterial humoral response (GO:0019731)|chromatin organization (GO:0006325)|defense response to Gram-positive bacterium (GO:0050830)|innate immune response in mucosa (GO:0002227)|nucleosome assembly (GO:0006334)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	14	Breast(34;0.0124)|all_hematologic(923;0.127)		STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221)			CACTTGGAGCTGGTGTACTTG	0.657																																						ENST00000369155.2																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	14						c.(370-372)Agc>Ggc		histone cluster 2, H2be							30	35	34					1																	149857821		2202	4299	6501	SO:0001583	missense	8349				defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding	g.chr1:149857821T>C	AY131979	CCDS936.1	1q21.2	2011-01-27	2006-10-11	2003-03-07	ENSG00000184678	ENSG00000184678		"Histones / Replication-dependent"	4760	protein-coding gene	gene with protein product		601831	"H2B histone family, member Q", "histone 2, H2be"	H2B, H2BFQ		1469070, 12408966	Standard	NM_003528		Approved	H2B/q, H2B.1	uc001etc.3	Q16778	OTTHUMG00000012095	ENST00000369155.2:c.370A>G	1.37:g.149857821T>C	ENSP00000358151:p.Ser124Gly						p.S124G	NM_003528.2	NP_003519.1	Q16778	H2B2E_HUMAN	STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221)		1	411	-	Breast(34;0.0124)|all_hematologic(923;0.127)		124					A3KMC7|A8K110|Q4KMY1|Q5QNX0|Q9UE88	Missense_Mutation	SNP	ENST00000369155.2	37	c.370A>G	CCDS936.1	.	.	.	.	.	.	.	.	.	.	T	28.4	4.915855	0.92178	.	.	ENSG00000184678	ENST00000369155	T	0.24538	1.85	6.07	6.07	0.98685	Histone-fold (2);	0.000000	0.85682	D	0.000000	T	0.42404	0.1201	M	0.69823	2.125	0.39573	D	0.969318	D	0.63046	0.992	D	0.71870	0.975	T	0.43491	-0.9388	10	0.87932	D	0	.	15.47	0.75434	0.0:0.0:0.0:1.0	.	124	Q16778	H2B2E_HUMAN	G	124	ENSP00000358151:S124G	ENSP00000358151:S124G	S	-	1	0	HIST2H2BE	148124445	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.601000	0.82783	2.330000	0.79161	0.477000	0.44152	AGC		0.657	HIST2H2BE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033455.1	NM_003528		19	71	0	0	0	1	0	19	71					C	149857821	T	C	149857821	3	2	305	1	0	0	0	0	1	0	0	0	7179	1580	55	4	14	4	HIST2H2BE	1	149857821	Missense_Mutation	SNP	T	TCGA-KK-A59V-01A-11D-A29Q-08	2477422	149857821	99392800	72	14589											
RPRD2	23248	broad.mit.edu	37	chr1	150444464	150444464	+	Nonsense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttgaatttaagaatatgcttAaaaacgcctcacgtaagccc	15	11	6	9	2	1	2	1	1	0	1	1	2	1	2	2	0	3	2	2	0	8	6			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:150444464A>T	ENST00000369068.4	+	11	3044	c.3040A>T	c.(3040-3042)Aaa>Taa	p.K1014*	RPRD2_ENST00000539519.1_3'UTR|RPRD2_ENST00000492220.1_3'UTR|RPRD2_ENST00000401000.4_Nonsense_Mutation_p.K988*	NM_015203.3	NP_056018.2	Q5VT52	RPRD2_HUMAN	regulation of nuclear pre-mRNA domain containing 2	1014						DNA-directed RNA polymerase II, holoenzyme (GO:0016591)				central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						GAATATGCTTAAAAACGCCTC	0.542																																						ENST00000401000.4																			0				central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						c.(2962-2964)Aaa>Taa		regulation of nuclear pre-mRNA domain containing 2							204	205	204					1																	150444464		1963	4151	6114	SO:0001587	stop_gained	23248						protein binding	g.chr1:150444464A>T	BX641025	CCDS44216.1, CCDS72907.1	1q21.2	2012-02-09	2008-08-15	2008-07-28	ENSG00000163125	ENSG00000163125			29039	protein-coding gene	gene with protein product		614695	"KIAA0460"	KIAA0460		22231121	Standard	XM_005245033		Approved	FLJ32145, HSPC099	uc009wlr.3	Q5VT52	OTTHUMG00000012808	ENST00000369068.4:c.3040A>T	1.37:g.150444464A>T	ENSP00000358064:p.Lys1014*					RPRD2_ENST00000539519.1_3'UTR|RPRD2_ENST00000369068.4_Nonsense_Mutation_p.K1014*|RPRD2_ENST00000492220.1_3'UTR	p.K988*			Q5VT52	RPRD2_HUMAN			10	3027	+			1014					A8K6N8|B3KPT1|B4E2Q6|O75048|Q5VT51|Q5VT53|Q6MZL4|Q86XD2|Q9P0D7	Nonsense_Mutation	SNP	ENST00000369068.4	37	c.2962A>T	CCDS44216.1	.	.	.	.	.	.	.	.	.	.	A	35	5.580186	0.96565	.	.	ENSG00000163125	ENST00000401000;ENST00000369068	.	.	.	5.2	5.2	0.72013	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-11.5746	15.2302	0.73381	1.0:0.0:0.0:0.0	.	.	.	.	X	988;1014	.	ENSP00000358064:K1014X	K	+	1	0	RPRD2	148711088	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.116000	0.71571	2.178000	0.69098	0.528000	0.53228	AAA		0.542	RPRD2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000035844.1	NM_015203		15	361	0	0	0	1	0	15	361					T	150444464	A	T	150444464	4	4	305	1	0	0	0	0	0	1	0	0	13617	363	13	5	3082	5	RPRD2	1	150444464	Nonsense_Mutation	SNP	A	TCGA-KK-A59V-01A-11D-A29Q-08	586643	150444464	98806157	73	14590											
GOLPH3L	55204	broad.mit.edu	37	chr1	150636167	150636167	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttccagatagattcgaccccGcatggccagctctatcagga	10	9	9	13	2	2	2	1	0	1	2	4	4	3	3	4	2	1	2	4	2	2	4	rs149790730		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:150636167G>A	ENST00000271732.3	-	3	300	c.256C>T	c.(256-258)Cgg>Tgg	p.R86W	GOLPH3L_ENST00000540514.1_Intron	NM_018178.5	NP_060648.2	Q9H4A5	GLP3L_HUMAN	golgi phosphoprotein 3-like	86					Golgi organization (GO:0007030)|positive regulation of protein secretion (GO:0050714)	Golgi membrane (GO:0000139)|trans-Golgi network membrane (GO:0032588)	phosphatidylinositol-4-phosphate binding (GO:0070273)			breast(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)	8	all_cancers(9;3.09e-52)|all_epithelial(9;4.47e-43)|all_lung(15;1.09e-34)|Lung NSC(24;4.04e-31)|Breast(34;0.000615)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;1.2e-23)|all cancers(9;4.81e-23)|OV - Ovarian serous cystadenocarcinoma(6;1.93e-15)|BRCA - Breast invasive adenocarcinoma(12;0.000479)|LUSC - Lung squamous cell carcinoma(543;0.171)			ATTCGACCCCGCATGGCCAGC	0.507																																						ENST00000271732.3																			0				breast(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)	8						c.(256-258)Cgg>Tgg		golgi phosphoprotein 3-like		G	TRP/ARG	0,4406		0,0,2203	92	88	90		256	1.5	1	1	dbSNP_134	90	1,8599	1.2+/-3.3	0,1,4299	no	missense	GOLPH3L	NM_018178.5	101	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	86/286	150636167	1,13005	2203	4300	6503	SO:0001583	missense	55204					Golgi cisterna membrane		g.chr1:150636167G>A	AJ296153	CCDS966.1	1q21	2008-02-05			ENSG00000143457	ENSG00000143457			24882	protein-coding gene	gene with protein product		612208					Standard	NM_018178		Approved	GPP34R	uc001evj.2	Q9H4A5	OTTHUMG00000035009	ENST00000271732.3:c.256C>T	1.37:g.150636167G>A	ENSP00000271732:p.Arg86Trp					GOLPH3L_ENST00000540514.1_Intron	p.R86W	NM_018178.5	NP_060648.2	Q9H4A5	GLP3L_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;1.2e-23)|all cancers(9;4.81e-23)|OV - Ovarian serous cystadenocarcinoma(6;1.93e-15)|BRCA - Breast invasive adenocarcinoma(12;0.000479)|LUSC - Lung squamous cell carcinoma(543;0.171)		3	300	-	all_cancers(9;3.09e-52)|all_epithelial(9;4.47e-43)|all_lung(15;1.09e-34)|Lung NSC(24;4.04e-31)|Breast(34;0.000615)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		86					B1AN09|B7Z6N3|Q9NVK0	Missense_Mutation	SNP	ENST00000271732.3	37	c.256C>T	CCDS966.1	.	.	.	.	.	.	.	.	.	.	G	14.05	2.419164	0.42918	0.0	1.16E-4	ENSG00000143457	ENST00000271732;ENST00000369003;ENST00000427665	.	.	.	5.61	1.46	0.22682	.	0.000000	0.64402	D	0.000007	T	0.76147	0.3947	H	0.94886	3.595	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.77643	-0.2511	9	0.87932	D	0	-3.4123	8.4771	0.33021	0.0704:0.0:0.545:0.3845	.	86	Q9H4A5	GLP3L_HUMAN	W	86;108;108	.	ENSP00000271732:R86W	R	-	1	2	GOLPH3L	148902791	1.000000	0.71417	0.996000	0.52242	0.005000	0.04900	0.830000	0.27462	0.015000	0.14971	-0.485000	0.04761	CGG		0.507	GOLPH3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084734.1	NM_018178		6	92	0	0	0	1	0	6	92					A	150636167	G	A	150636167	3	1	305	1	0	0	0	0	1	0	0	0	6569	1086	38	1	613	1	GOLPH3L	1	150636167	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	191703	150636167	98614454	74	14591											
HORMAD1	84072	broad.mit.edu	37	chr1	150689638	150689638	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tagatatcttgttccataagCgcattctgggaatattcccc	10	14	7	10	1	2	1	0	0	2	1	4	2	4	2	3	1	1	2	3	1	5	8			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:150689638C>T	ENST00000361824.2	-	3	259	c.154G>A	c.(154-156)Gct>Act	p.A52T	HORMAD1_ENST00000476530.1_5'UTR|HORMAD1_ENST00000368993.2_Missense_Mutation_p.A52T|HORMAD1_ENST00000322343.7_Missense_Mutation_p.A52T|HORMAD1_ENST00000368995.4_Missense_Mutation_p.R2H	NM_032132.4	NP_115508.2	Q86X24	HORM1_HUMAN	HORMA domain containing 1	52	HORMA. {ECO:0000255|PROSITE- ProRule:PRU00109}.				blastocyst development (GO:0001824)|meiotic DNA double-strand break formation (GO:0042138)|meiotic nuclear division (GO:0007126)|meiotic recombination checkpoint (GO:0051598)|meiotic sister chromatid cohesion (GO:0051177)|oogenesis (GO:0048477)|regulation of homologous chromosome segregation (GO:0060629)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)	chromosome (GO:0005694)|condensed nuclear chromosome (GO:0000794)|nucleus (GO:0005634)				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(3)	16	all_cancers(9;3.23e-52)|all_epithelial(9;4.68e-43)|all_lung(15;5.74e-35)|Lung NSC(24;2.09e-31)|Breast(34;0.0009)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;2.32e-23)|all cancers(9;5.21e-23)|OV - Ovarian serous cystadenocarcinoma(6;6.72e-15)|BRCA - Breast invasive adenocarcinoma(12;0.000479)|LUSC - Lung squamous cell carcinoma(543;0.171)			GTTCCATAAGCGCATTCTGGG	0.318																																						ENST00000368993.2																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(3)	16						c.(154-156)Gct>Act		HORMA domain containing 1							87	86	86					1																	150689638		2203	4300	6503	SO:0001583	missense	84072				blastocyst development|cell differentiation|meiotic DNA double-strand break formation|meiotic recombination checkpoint|meiotic sister chromatid cohesion|mitosis|oogenesis|regulation of homologous chromosome segregation|spermatogenesis|synaptonemal complex assembly	chromosome|nucleus		g.chr1:150689638C>T	AL136755	CCDS967.1, CCDS55633.1	1q21.2	2009-03-09			ENSG00000143452	ENSG00000143452			25245	protein-coding gene	gene with protein product	"cancer/testis antigen 46"	609824				11230166, 15999985	Standard	NM_032132		Approved	DKFZP434A1315, CT46	uc001evk.2	Q86X24	OTTHUMG00000035005	ENST00000361824.2:c.154G>A	1.37:g.150689638C>T	ENSP00000355167:p.Ala52Thr					HORMAD1_ENST00000322343.7_Missense_Mutation_p.A52T|HORMAD1_ENST00000476530.1_5'UTR|HORMAD1_ENST00000368995.4_Missense_Mutation_p.R2H|HORMAD1_ENST00000361824.2_Missense_Mutation_p.A52T	p.A52T			Q86X24	HORM1_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;2.32e-23)|all cancers(9;5.21e-23)|OV - Ovarian serous cystadenocarcinoma(6;6.72e-15)|BRCA - Breast invasive adenocarcinoma(12;0.000479)|LUSC - Lung squamous cell carcinoma(543;0.171)		3	259	-	all_cancers(9;3.23e-52)|all_epithelial(9;4.68e-43)|all_lung(15;5.74e-35)|Lung NSC(24;2.09e-31)|Breast(34;0.0009)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		52			HORMA.		A6NMK2|B3KUK1|Q4G114|Q5T5I3|Q5T5I4|Q5T5I5|Q6FIC1|Q9H0K8	Missense_Mutation	SNP	ENST00000361824.2	37	c.154G>A	CCDS967.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	32|32	5.151574|5.151574	0.94645|0.94645	.|.	.|.	ENSG00000143452|ENSG00000143452	ENST00000368993;ENST00000322343;ENST00000361824|ENST00000368995;ENST00000368992;ENST00000540570;ENST00000368987;ENST00000442853	T;T;T|T	0.35973|0.46451	1.33;1.28;1.33|0.87	5.46|5.46	5.46|5.46	0.80206|0.80206	DNA-binding HORMA (4);|.	0.049440|.	0.85682|.	D|.	0.000000|.	T|T	0.42108|0.42108	0.1188|0.1188	M|M	0.85041|0.85041	2.73|2.73	0.58432|0.58432	D|D	0.999999|0.999999	D;D|P	0.89917|0.49447	1.0;1.0|0.924	D;D|B	0.83275|0.40782	0.996;0.994|0.34	T|T	0.57900|0.57900	-0.7731|-0.7731	10|9	0.32370|0.66056	T|D	0.25|0.02	-17.3337|-17.3337	17.8768|17.8768	0.88827|0.88827	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	52;52|2	Q86X24-2;Q86X24|Q86X24-4	.;HORM1_HUMAN|.	T|H	52|2	ENSP00000357989:A52T;ENSP00000326489:A52T;ENSP00000355167:A52T|ENSP00000357991:R2H	ENSP00000326489:A52T|ENSP00000357983:R2H	A|R	-|-	1|2	0|0	HORMAD1|HORMAD1	148956262|148956262	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.980000|0.980000	0.70556|0.70556	7.100000|7.100000	0.76989|0.76989	2.554000|2.554000	0.86153|0.86153	0.460000|0.460000	0.39030|0.39030	GCT|CGC		0.318	HORMAD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000084722.1	NM_032132		5	98	0	0	0	1	0	5	98					T	150689638	C	T	150689638	3	4	305	1	0	0	0	0	1	0	0	0	7286	768	27	1	1082	1	HORMAD1	1	150689638	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	53471	150689638	98560983	75	14592											
ARNT	405	broad.mit.edu	37	chr1	150790487	150790487	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtgttggagagtgtaggccGtggttcttggctagagttcc	5	14	16	6	1	1	2	0	0	1	2	2	3	2	2	2	4	0	5	2	4	2	6	rs143491065		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:150790487G>A	ENST00000358595.5	-	15	1614	c.1414C>T	c.(1414-1416)Cgg>Tgg	p.R472W	ARNT_ENST00000515192.1_Missense_Mutation_p.R458W|ARNT_ENST00000505755.1_Missense_Mutation_p.R457W|ARNT_ENST00000354396.2_Missense_Mutation_p.R472W	NM_001197325.1|NM_001668.3|NM_178427.2	NP_001184254.1|NP_001659.1|NP_848514.1	P27540	ARNT_HUMAN	aryl hydrocarbon receptor nuclear translocator	472					cell differentiation (GO:0030154)|cellular response to hypoxia (GO:0071456)|embryonic placenta development (GO:0001892)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of glycolytic process (GO:0045821)|positive regulation of hormone biosynthetic process (GO:0046886)|positive regulation of protein sumoylation (GO:0033235)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0043619)|response to hypoxia (GO:0001666)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	aryl hydrocarbon receptor activity (GO:0004874)|aryl hydrocarbon receptor binding (GO:0017162)|enhancer binding (GO:0035326)|protein heterodimerization activity (GO:0046982)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(11)|prostate(2)|skin(4)|stomach(1)	34	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.02)|BRCA - Breast invasive adenocarcinoma(12;0.00606)|LUSC - Lung squamous cell carcinoma(543;0.211)			AGTGTAGGCCGTGGTTCTTGG	0.517			T	ETV6	AML																																	ENST00000358595.5				Dom	yes		1	1q21	405	T	aryl hydrocarbon receptor nuclear translocator			L	ETV6		AML		0				central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(11)|prostate(2)|skin(4)|stomach(1)	34						c.(1414-1416)Cgg>Tgg		aryl hydrocarbon receptor nuclear translocator		G	TRP/ARG,TRP/ARG,TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	104	101	102		1369,1414,1369	4	1	1	dbSNP_134	102	0,8600		0,0,4300	no	missense,missense,missense	ARNT	NM_001197325.1,NM_001668.3,NM_178427.2	101,101,101	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging,probably-damaging	457/774,472/790,457/775	150790487	1,13005	2203	4300	6503	SO:0001583	missense	0				positive regulation of hormone biosynthetic process|positive regulation vascular endothelial growth factor production|regulation of transcription from RNA polymerase II promoter in response to oxidative stress|response to hypoxia		aryl hydrocarbon receptor binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity	g.chr1:150790487G>A	AF001307	CCDS970.1, CCDS971.1, CCDS65641.1, CCDS65642.1	1q21	2013-05-21			ENSG00000143437	ENSG00000143437		"Basic helix-loop-helix proteins"	700	protein-coding gene	gene with protein product		126110					Standard	NM_001668		Approved	HIF-1beta, bHLHe2	uc001evr.2	P27540	OTTHUMG00000035011	ENST00000358595.5:c.1414C>T	1.37:g.150790487G>A	ENSP00000351407:p.Arg472Trp					ARNT_ENST00000515192.1_Missense_Mutation_p.R458W|ARNT_ENST00000505755.1_Missense_Mutation_p.R457W|ARNT_ENST00000354396.2_Missense_Mutation_p.R472W	p.R472W	NM_001197325.1|NM_001668.3|NM_178427.2	NP_001184254.1|NP_001659.1|NP_848514.1	P27540	ARNT_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.02)|BRCA - Breast invasive adenocarcinoma(12;0.00606)|LUSC - Lung squamous cell carcinoma(543;0.211)		15	1614	-	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		472					B2R9H1|C4AMA1|F8WAP6|Q59ED4|Q5QP39|Q8NDC7	Missense_Mutation	SNP	ENST00000358595.5	37	c.1414C>T	CCDS970.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.965366	0.74131	2.27E-4	0.0	ENSG00000143437	ENST00000358595;ENST00000354396;ENST00000515192;ENST00000505755	T;T;T;T	0.05649	3.52;3.52;3.51;3.41	5.96	4.04	0.47022	.	0.302235	0.32161	N	0.006486	T	0.11239	0.0274	L	0.60455	1.87	0.51233	D	0.999919	D;P;P;D;D	0.89917	0.999;0.669;0.532;1.0;0.999	P;B;B;P;P	0.62435	0.902;0.049;0.049;0.899;0.902	T	0.01015	-1.1480	10	0.72032	D	0.01	.	15.2089	0.73202	0.0:0.0:0.7301:0.2699	.	457;472;458;457;472	A8K6P0;F8WAP6;P27540-3;P27540-2;P27540	.;.;.;.;ARNT_HUMAN	W	472;472;458;457	ENSP00000351407:R472W;ENSP00000346372:R472W;ENSP00000423851:R458W;ENSP00000427571:R457W	ENSP00000346372:R472W	R	-	1	2	ARNT	149057111	1.000000	0.71417	1.000000	0.80357	0.700000	0.40528	3.906000	0.56340	0.797000	0.33971	0.585000	0.79938	CGG		0.517	ARNT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000084741.2			7	16	0	0	0	1	0	7	16					A	150790487	G	A	150790487	3	1	305	1	0	0	0	0	1	0	0	0	965	1144	40	1	987	1	ARNT	1	150790487	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	100849	150790487	98460134	76	14593											
SEMA6C	10500	broad.mit.edu	37	chr1	151105902	151105902	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggaggccagagactgaggcGcccagggcaaaagctgcggc	11	2	17	11	2	0	2	0	1	0	1	0	4	0	3	2	5	2	2	2	5	2	0			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:151105902G>A	ENST00000341697.3	-	19	3542	c.1851C>T	c.(1849-1851)ggC>ggT	p.G617G	SEMA6C_ENST00000479820.1_5'Flank|RP11-68I18.10_ENST00000563624.1_RNA			Q9H3T2	SEM6C_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6C	617					axon guidance (GO:0007411)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	28	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			AGACTGAGGCGCCCAGGGCAA	0.731																																						ENST00000341697.3																			0				central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	28						c.(1849-1851)ggC>ggT		sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6C							18	21	20					1																	151105902		2196	4289	6485	SO:0001819	synonymous_variant	10500					integral to membrane	receptor activity	g.chr1:151105902G>A	AF339154	CCDS984.1, CCDS53363.1, CCDS53364.1	1q21.2	2008-02-05			ENSG00000143434	ENSG00000143434		"Semaphorins"	10740	protein-coding gene	gene with protein product	"m-Sema Y2"	609294				12110693	Standard	NM_030913		Approved	KIAA1869	uc001ewv.3	Q9H3T2	OTTHUMG00000012261	ENST00000341697.3:c.1851C>T	1.37:g.151105902G>A							p.G617G			Q9H3T2	SEM6C_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)		19	3542	-	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		617					D3DV15|Q5JR71|Q5JR72|Q5JR73|Q8WXT8|Q8WXT9|Q8WXU0|Q96JF8	Silent	SNP	ENST00000341697.3	37	c.1851C>T	CCDS984.1																																																																																				0.731	SEMA6C-004	KNOWN	alternative_5_UTR|mRNA_start_NF|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000034074.1	NM_030913		5	7	0	0	0	1	0	5	7					A	151105902	G	A	151105902	2	1	305	1	0	0	0	0	0	0	0	1	14041	1074	38	1		1	SEMA6C	1	151105902	Silent	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	315415	151105902	98144719	77	14594											
SELENBP1	8991	broad.mit.edu	37	chr1	151340694	151340694	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctttgccattgcccttgacGtctcccagggagctgatcat	6	12	9	14	1	2	2	1	2	1	0	3	3	2	3	4	1	3	1	4	1	0	3			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:151340694G>A	ENST00000368868.5	-	5	553	c.462C>T	c.(460-462)gaC>gaT	p.D154D	SELENBP1_ENST00000473693.1_5'UTR|SELENBP1_ENST00000426705.2_Silent_p.D196D|SELENBP1_ENST00000435071.1_Silent_p.D90D|SELENBP1_ENST00000447402.3_Silent_p.D92D	NM_003944.3	NP_003935.2	Q13228	SBP1_HUMAN	selenium binding protein 1	154					protein transport (GO:0015031)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	selenium binding (GO:0008430)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|prostate(1)|urinary_tract(1)	20	Lung SC(34;0.00471)|Ovarian(49;0.00871)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			TGCCCTTGACGTCTCCCAGGG	0.542																																						ENST00000426705.2																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|prostate(1)|urinary_tract(1)	20						c.(586-588)gaC>gaT		selenium binding protein 1							176	163	167					1																	151340694		2203	4300	6503	SO:0001819	synonymous_variant	8991				protein transport	cytosol|membrane|nucleolus	protein binding|selenium binding	g.chr1:151340694G>A	U29091	CCDS995.1, CCDS58027.1, CCDS60266.1	1q21.3	2014-05-19			ENSG00000143416	ENSG00000143416			10719	protein-coding gene	gene with protein product		604188				9027582	Standard	NM_003944		Approved	hSP56, hSBP, LPSB	uc010pcy.3	Q13228	OTTHUMG00000012498	ENST00000368868.5:c.462C>T	1.37:g.151340694G>A						SELENBP1_ENST00000435071.1_Silent_p.D90D|SELENBP1_ENST00000473693.1_5'UTR|SELENBP1_ENST00000368868.5_Silent_p.D154D|SELENBP1_ENST00000447402.3_Silent_p.D92D	p.D196D	NM_001258289.1	NP_001245218.1	Q13228	SBP1_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)		5	732	-	Lung SC(34;0.00471)|Ovarian(49;0.00871)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		154					A6NML9|A6PVW9|B2RDR3|B4DKP6|B4E1F3|Q49AQ8|Q96GX7	Silent	SNP	ENST00000368868.5	37	c.588C>T	CCDS995.1	.	.	.	.	.	.	.	.	.	.	G	7.597	0.671972	0.14776	.	.	ENSG00000143416	ENST00000424475	.	.	.	5.93	1.0	0.19881	.	.	.	.	.	T	0.44561	0.1299	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.38845	-0.9642	4	.	.	.	-6.3721	10.1185	0.42605	0.4045:0.0:0.5955:0.0	.	.	.	.	M	115	.	.	T	-	2	0	SELENBP1	149607318	1.000000	0.71417	0.950000	0.38849	0.827000	0.46813	0.910000	0.28571	0.281000	0.22233	0.561000	0.74099	ACG		0.542	SELENBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034904.4			74	188	0	0	0	1	0	74	188					A	151340694	G	A	151340694	2	1	305	1	0	0	0	0	0	0	0	1	14014	1136	40	1		1	SELENBP1	1	151340694	Silent	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	234792	151340694	97909927	78	14595											
POGZ	23126	broad.mit.edu	37	chr1	151400737	151400737	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgggactgggactgtgggaCggtgcttcgaatggtaagag	8	9	18	6	2	0	1	0	0	0	1	1	5	0	4	0	5	1	2	0	5	2	2	rs552308484		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:151400737C>T	ENST00000271715.2	-	6	1035	c.721G>A	c.(721-723)Gtc>Atc	p.V241I	POGZ_ENST00000392723.1_Missense_Mutation_p.V188I|POGZ_ENST00000531094.1_Missense_Mutation_p.V188I|POGZ_ENST00000540984.1_Intron|POGZ_ENST00000368863.2_Missense_Mutation_p.V146I|POGZ_ENST00000409503.1_Missense_Mutation_p.V241I|POGZ_ENST00000361398.3_Missense_Mutation_p.V188I|POGZ_ENST00000491586.1_Missense_Mutation_p.V188I	NM_001194937.1|NM_015100.3	NP_001181866.1|NP_055915.2	Q7Z3K3	POGZ_HUMAN	pogo transposable element with ZNF domain	241					kinetochore assembly (GO:0051382)|mitotic sister chromatid cohesion (GO:0007064)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(10)|kidney(3)|large_intestine(10)|liver(2)|lung(11)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	47	Lung SC(34;0.00471)|Ovarian(49;0.00672)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			GACTGTGGGACGGTGCTTCGA	0.602													C|||	1	0.000199681	8e-04	0	5008	,	,		19954	0		0	False		,,,				2504	0					ENST00000271715.2																			0				NS(1)|breast(1)|endometrium(10)|kidney(3)|large_intestine(10)|liver(2)|lung(11)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	47						c.(721-723)Gtc>Atc		pogo transposable element with ZNF domain							311	291	298					1																	151400737		2203	4300	6503	SO:0001583	missense	23126				cell division|kinetochore assembly|mitotic sister chromatid cohesion|regulation of transcription, DNA-dependent	cytoplasm|nuclear chromatin	DNA binding|protein binding|zinc ion binding	g.chr1:151400737C>T	AB007930	CCDS997.1, CCDS998.1, CCDS44222.1, CCDS44222.2, CCDS53365.1, CCDS53366.1	1q21.1	2013-07-22			ENSG00000143442	ENSG00000143442			18801	protein-coding gene	gene with protein product	"zinc finger protein 280E", "putative protein product of Nbla00003"	614787				10976766	Standard	NM_015100		Approved	KIAA0461, ZNF635m, ZNF280E	uc001eyd.2	Q7Z3K3	OTTHUMG00000012499	ENST00000271715.2:c.721G>A	1.37:g.151400737C>T	ENSP00000271715:p.Val241Ile					POGZ_ENST00000361398.3_Missense_Mutation_p.V188I|POGZ_ENST00000531094.1_Missense_Mutation_p.V188I|POGZ_ENST00000491586.1_Missense_Mutation_p.V188I|POGZ_ENST00000409503.1_Missense_Mutation_p.V241I|POGZ_ENST00000392723.1_Missense_Mutation_p.V188I|POGZ_ENST00000368863.2_Missense_Mutation_p.V146I|POGZ_ENST00000540984.1_Intron	p.V241I	NM_001194937.1|NM_015100.3	NP_001181866.1|NP_055915.2	Q7Z3K3	POGZ_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)		6	1035	-	Lung SC(34;0.00471)|Ovarian(49;0.00672)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		241					B4DTP8|B4DYL9|B7ZBY5|E9PM80|O75049|Q3LIC4|Q5SZS1|Q5SZS2|Q5SZS3|Q5SZS4|Q8TDZ7|Q9Y4X7	Missense_Mutation	SNP	ENST00000271715.2	37	c.721G>A	CCDS997.1	.	.	.	.	.	.	.	.	.	.	C	23.1	4.374411	0.82573	.	.	ENSG00000143442	ENST00000392723;ENST00000271715;ENST00000361398;ENST00000368863;ENST00000409503;ENST00000531094;ENST00000491586;ENST00000437847	D;D;D;D;D;D;D	0.84146	-1.81;-1.81;-1.81;-1.81;-1.81;-1.81;-1.81	5.17	5.17	0.71159	.	0.000000	0.64402	D	0.000007	T	0.81754	0.4889	N	0.14661	0.345	0.80722	D	1	D;D;D;D;D;D;D	0.67145	0.994;0.968;0.996;0.992;0.992;0.981;0.994	P;P;P;D;D;D;P	0.67548	0.651;0.854;0.738;0.952;0.952;0.931;0.651	T	0.82074	-0.0637	10	0.33141	T	0.24	-15.6265	17.3931	0.87437	0.0:1.0:0.0:0.0	.	188;241;146;241;188;188;241	E9PM80;B7ZBY5;Q7Z3K3-5;Q7Z3K3-4;Q7Z3K3-3;Q7Z3K3-2;Q7Z3K3	.;.;.;.;.;.;POGZ_HUMAN	I	188;241;188;146;241;188;188;241	ENSP00000376484:V188I;ENSP00000271715:V241I;ENSP00000354467:V188I;ENSP00000357856:V146I;ENSP00000386836:V241I;ENSP00000431259:V188I;ENSP00000418408:V188I	ENSP00000271715:V241I	V	-	1	0	POGZ	149667361	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.142000	0.64820	2.679000	0.91253	0.563000	0.77884	GTC		0.602	POGZ-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000034915.2	NM_207171		12	169	0	0	0	1	0	12	169					T	151400737	C	T	151400737	3	4	305	1	0	0	0	0	1	0	0	0	12186	536	19	1	3581	1	POGZ	1	151400737	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	60043	151400737	97849884	79	14596											
CGN	57530	broad.mit.edu	37	chr1	151503052	151503052	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaagcgggcactggaggcaCgcctagaggaggctcagcgg	9	3	17	12	3	1	1	1	0	0	1	1	3	1	3	2	6	2	3	2	6	2	1	rs370334831		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:151503052C>T	ENST00000271636.7	+	13	2534	c.2401C>T	c.(2401-2403)Cgc>Tgc	p.R801C	SNORA44_ENST00000517031.1_RNA	NM_020770.2	NP_065821.1	Q9P2M7	CING_HUMAN	cingulin	795	Glu-rich.				transforming growth factor beta receptor signaling pathway (GO:0007179)	cell junction (GO:0030054)|myosin complex (GO:0016459)|tight junction (GO:0005923)	actin binding (GO:0003779)|motor activity (GO:0003774)			NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	45	Ovarian(49;0.0273)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		LUSC - Lung squamous cell carcinoma(543;0.181)			ACTGGAGGCACGCCTAGAGGA	0.687																																						ENST00000271636.7																			0				NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	45						c.(2401-2403)Cgc>Tgc		cingulin							22	26	25					1																	151503052		2200	4297	6497	SO:0001583	missense	57530					myosin complex|tight junction	actin binding|motor activity	g.chr1:151503052C>T	AB037740	CCDS999.1	1q21	2008-02-05			ENSG00000143375	ENSG00000143375			17429	protein-coding gene	gene with protein product		609473				11042084, 12529927	Standard	NM_020770		Approved	KIAA1319	uc009wmw.3	Q9P2M7	OTTHUMG00000012497	ENST00000271636.7:c.2401C>T	1.37:g.151503052C>T	ENSP00000271636:p.Arg801Cys						p.R801C	NM_020770.2	NP_065821.1	Q9P2M7	CING_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.181)		13	2534	+	Ovarian(49;0.0273)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		795			Glu-rich.		A6H8L3|A7MD22|Q5T386|Q9NR25	Missense_Mutation	SNP	ENST00000271636.7	37	c.2401C>T	CCDS999.1	.	.	.	.	.	.	.	.	.	.	C	16.81	3.226213	0.58668	.	.	ENSG00000143375	ENST00000271636	T	0.69040	-0.37	4.99	1.9	0.25705	.	0.465256	0.24426	N	0.038640	T	0.52853	0.1760	L	0.53249	1.67	0.23492	N	0.997562	D	0.71674	0.998	P	0.49387	0.609	T	0.52540	-0.8562	10	0.72032	D	0.01	-21.5027	12.5597	0.56273	0.5805:0.4195:0.0:0.0	.	795	Q9P2M7	CING_HUMAN	C	801	ENSP00000271636:R801C	ENSP00000271636:R801C	R	+	1	0	CGN	149769676	0.074000	0.21230	0.221000	0.23827	0.891000	0.51852	0.525000	0.22956	0.218000	0.20820	0.557000	0.71058	CGC		0.687	CGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034900.3	NM_020770		4	39	0	0	0	1	0	4	39					T	151503052	C	T	151503052	3	4	305	1	0	0	0	0	1	0	0	0	3303	536	19	1	2447	1	CGN	1	151503052	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	102315	151503052	97747569	80	14597											
TUFT1	7286	broad.mit.edu	37	chr1	151553473	151553473	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	agaaaaacaaatcagtcatgGcaacttcagcacccaggccc	16	5	7	13	0	3	1	3	0	0	1	3	1	3	1	2	2	3	2	2	2	4	1			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:151553473G>A	ENST00000368849.3	+	12	1126	c.1064G>A	c.(1063-1065)gGc>gAc	p.G355D	TUFT1_ENST00000538902.1_Missense_Mutation_p.G374D|TUFT1_ENST00000353024.3_Missense_Mutation_p.G296D|TUFT1_ENST00000392712.3_Missense_Mutation_p.G300D|TUFT1_ENST00000368848.2_Missense_Mutation_p.G330D	NM_020127.2	NP_064512.1	Q9NNX1	TUFT1_HUMAN	tuftelin 1	355					bone mineralization (GO:0030282)|odontogenesis (GO:0042476)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)	structural constituent of tooth enamel (GO:0030345)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)|skin(1)	13	Ovarian(49;0.0273)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		LUSC - Lung squamous cell carcinoma(543;0.181)			ATCAGTCATGGCAACTTCAGC	0.527																																						ENST00000368849.3																			0				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)|skin(1)	13						c.(1063-1065)gGc>gAc		tuftelin 1							76	75	75					1																	151553473		2203	4300	6503	SO:0001583	missense	7286				bone mineralization|odontogenesis	cytoplasm|extracellular region	structural constituent of tooth enamel	g.chr1:151553473G>A	AF254260	CCDS1000.1, CCDS44223.1	1q21	2008-02-05			ENSG00000143367	ENSG00000143367			12422	protein-coding gene	gene with protein product		600087				7919663	Standard	NM_020127		Approved		uc001eyl.3	Q9NNX1	OTTHUMG00000012536	ENST00000368849.3:c.1064G>A	1.37:g.151553473G>A	ENSP00000357842:p.Gly355Asp					TUFT1_ENST00000538902.1_Missense_Mutation_p.G374D|TUFT1_ENST00000353024.3_Missense_Mutation_p.G296D|TUFT1_ENST00000392712.3_Missense_Mutation_p.G300D|TUFT1_ENST00000368848.2_Missense_Mutation_p.G330D	p.G355D	NM_020127.2	NP_064512.1	Q9NNX1	TUFT1_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.181)		12	1126	+	Ovarian(49;0.0273)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		355					B2RD57|D3DV21|D3DV22|Q5T384|Q5T385|Q9BU28|Q9H5L1	Missense_Mutation	SNP	ENST00000368849.3	37	c.1064G>A	CCDS1000.1	.	.	.	.	.	.	.	.	.	.	G	18.87	3.715306	0.68844	.	.	ENSG00000143367	ENST00000368849;ENST00000392712;ENST00000353024;ENST00000368848;ENST00000538902	T;T;T;T;T	0.22336	2.02;2.09;2.06;2.06;1.96	4.96	4.03	0.46877	.	0.458730	0.23017	N	0.052889	T	0.16300	0.0392	L	0.44542	1.39	0.31455	N	0.670221	D;D;D	0.69078	0.997;0.994;0.973	P;P;P	0.62560	0.904;0.818;0.736	T	0.02813	-1.1107	10	0.14656	T	0.56	-3.6695	11.1643	0.48533	0.0:0.1857:0.8143:0.0	.	374;330;355	F5H607;Q9NNX1-2;Q9NNX1	.;.;TUFT1_HUMAN	D	355;300;296;330;374	ENSP00000357842:G355D;ENSP00000376476:G300D;ENSP00000343781:G296D;ENSP00000357841:G330D;ENSP00000437997:G374D	ENSP00000343781:G296D	G	+	2	0	TUFT1	149820097	0.918000	0.31147	0.792000	0.32020	0.913000	0.54294	3.782000	0.55401	1.278000	0.44430	0.655000	0.94253	GGC		0.527	TUFT1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000035022.1	NM_020127		26	48	0	0	0	1	0	26	48					A	151553473	G	A	151553473	3	1	305	1	0	0	0	0	1	0	0	0	16769	1203	42	3	1110	3	TUFT1	1	151553473	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	50421	151553473	97697148	81	14598											
RPTN	126638	broad.mit.edu	37	chr1	152127348	152127348	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcatgggtttgtctgtctcGtctctgatggttctgctcat	3	19	10	9	1	6	1	2	1	4	0	8	1	6	1	0	2	1	3	0	2	0	3	rs184952075	byFrequency	TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:152127348G>A	ENST00000316073.3	-	3	2291	c.2227C>T	c.(2227-2229)Cga>Tga	p.R743*		NM_001122965.1	NP_001116437.1	Q6XPR3	RPTN_HUMAN	repetin	743	Gln-rich.					cornified envelope (GO:0001533)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						TGTCTGTCTCGTCTCTGATGG	0.522													G|||	7	0.00139776	0.0045	0	5008	,	,		23174	0.001		0	False		,,,				2504	0					ENST00000316073.3																			0				breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						c.(2227-2229)Cga>Tga		repetin		G	stop/ARG	4,3132		0,4,1564	672	529	572		2227	-2.4	0	1		572	0,7164		0,0,3582	yes	stop-gained	RPTN	NM_001122965.1		0,4,5146	AA,AG,GG		0.0,0.1276,0.0388		743/785	152127348	4,10296	1568	3582	5150	SO:0001587	stop_gained	126638					proteinaceous extracellular matrix	calcium ion binding	g.chr1:152127348G>A	AK096436	CCDS41397.1	1q21.3	2013-01-10			ENSG00000215853	ENSG00000215853		"EF-hand domain containing"	26809	protein-coding gene	gene with protein product		613259				15854042	Standard	NM_001122965		Approved	FLJ39117	uc001ezs.1	Q6XPR3	OTTHUMG00000154095	ENST00000316073.3:c.2227C>T	1.37:g.152127348G>A	ENSP00000317895:p.Arg743*						p.R743*	NM_001122965.1	NP_001116437.1	Q6XPR3	RPTN_HUMAN			3	2291	-			743			Gln-rich.		B7ZBZ3	Nonsense_Mutation	SNP	ENST00000316073.3	37	c.2227C>T	CCDS41397.1	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	G	38	6.683695	0.97759	0.001276	0.0	ENSG00000215853	ENST00000316073;ENST00000541545	.	.	.	5.34	-2.44	0.06502	.	2.380830	0.02815	U	0.124824	.	.	.	.	.	.	0.29293	N	0.869223	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	6.6747	4.2225	0.10565	0.0767:0.1986:0.1794:0.5454	.	.	.	.	X	743;398	.	ENSP00000317895:R743X	R	-	1	2	RPTN	150393972	0.000000	0.05858	0.000000	0.03702	0.662000	0.39071	0.047000	0.14056	-0.877000	0.04012	0.551000	0.68910	CGA		0.522	RPTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333867.1	XM_371312		6	401	0	0	0	1	0	6	401					A	152127348	G	A	152127348	4	1	305	1	0	0	0	0	0	1	0	0	13664	1153	40	1	131	1	RPTN	1	152127348	Nonsense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	573875	152127348	97123273	82	14599											
HRNR	388697	broad.mit.edu	37	chr1	152192622	152192622	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgactgtcctgacctagagcCgtgttgtccgtggccggagg	5	10	15	11	3	0	3	0	2	0	1	2	4	2	4	5	3	1	1	5	3	1	2	rs369964728		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:152192622C>T	ENST00000368801.2	-	3	1558	c.1483G>A	c.(1483-1485)Ggc>Agc	p.G495S	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	495					establishment of skin barrier (GO:0061436)|hematopoietic progenitor cell differentiation (GO:0002244)|keratinization (GO:0031424)	cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GACCTAGAGCCGTGTTGTCCG	0.542																																						ENST00000368801.2																			0				autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192						c.(1483-1485)Ggc>Agc		hornerin		C	SER/GLY	0,4406		0,0,2203	312	291	298		1483	-0.7	0	1		298	1,8599	1.2+/-3.3	0,1,4299	no	missense	HRNR	NM_001009931.1	56	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	495/2851	152192622	1,13005	2203	4300	6503	SO:0001583	missense	388697				keratinization		calcium ion binding|protein binding	g.chr1:152192622C>T	AB104446	CCDS30859.1	1q21.3	2013-01-10			ENSG00000197915	ENSG00000197915		"EF-hand domain containing"	20846	protein-coding gene	gene with protein product	"filaggrin family member 3"						Standard	NM_001009931		Approved	S100a18, S100A16, FLG3	uc001ezt.2	Q86YZ3	OTTHUMG00000012243	ENST00000368801.2:c.1483G>A	1.37:g.152192622C>T	ENSP00000357791:p.Gly495Ser					FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	p.G495S	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	1558	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		495					Q5DT20|Q5U1F4	Missense_Mutation	SNP	ENST00000368801.2	37	c.1483G>A	CCDS30859.1	.	.	.	.	.	.	.	.	.	.	C	8.633	0.894202	0.17613	0.0	1.16E-4	ENSG00000197915	ENST00000368801	T	0.01933	4.55	3.63	-0.724	0.11177	.	.	.	.	.	T	0.00440	0.0014	L	0.27053	0.805	0.09310	N	1	B	0.34181	0.44	B	0.19148	0.024	T	0.43782	-0.9370	9	0.18710	T	0.47	.	6.6523	0.22969	0.0:0.5166:0.0:0.4834	.	495	Q86YZ3	HORN_HUMAN	S	495	ENSP00000357791:G495S	ENSP00000357791:G495S	G	-	1	0	HRNR	150459246	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.259000	0.01178	-0.046000	0.13446	0.499000	0.49734	GGC		0.542	HRNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034016.1	XM_373868		5	416	0	0	0	1	0	5	416					T	152192622	C	T	152192622	3	4	305	1	0	0	0	0	1	0	0	0	7359	652	23	2	7073	2	HRNR	1	152192622	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	65274	152192622	97057999	83	14600											
FLG	2312	broad.mit.edu	37	chr1	152278093	152278093	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtcttgtgcctgctcatggCgggatccttgtcttcctcta	3	16	10	12	1	4	0	1	0	3	0	6	1	6	1	3	2	2	1	3	2	1	4	rs553781249	byFrequency	TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:152278093C>T	ENST00000368799.1	-	3	9304	c.9269G>A	c.(9268-9270)cGc>cAc	p.R3090H	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3090	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTGCTCATGGCGGGATCCTTG	0.582									Ichthyosis				c|||	13	0.00259585	0.0091	0	5008	,	,		16620	0		0	False		,,,				2504	0.001					ENST00000368799.1																			0				autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424						c.(9268-9270)cGc>cAc		filaggrin																																				SO:0001583	missense	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152278093C>T	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"EF-hand domain containing"	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.9269G>A	1.37:g.152278093C>T	ENSP00000357789:p.Arg3090His					FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	p.R3090H	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	9304	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		3090			Ser-rich.		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	c.9269G>A	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	c	5.948	0.358913	0.11239	.	.	ENSG00000143631	ENST00000368799	T	0.01705	4.68	3.1	-3.68	0.04463	.	.	.	.	.	T	0.00271	0.0008	N	0.04636	-0.2	0.09310	N	1	P	0.35155	0.487	B	0.24541	0.054	T	0.45614	-0.9249	9	0.44086	T	0.13	.	4.4892	0.11805	0.0:0.3239:0.3493:0.3268	.	3090	P20930	FILA_HUMAN	H	3090	ENSP00000357789:R3090H	ENSP00000357789:R3090H	R	-	2	0	FLG	150544717	0.960000	0.32886	0.000000	0.03702	0.097000	0.18754	-0.243000	0.08915	-0.962000	0.03604	-0.384000	0.06662	CGC		0.582	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		114	235	0	0	0	1	0	114	235					T	152278093	C	T	152278093	3	4	305	1	0	0	0	0	1	0	0	0	5922	768	27	1	2920	1	FLG	1	152278093	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	85471	152278093	96972528	84	14601											
DENND4B	9909	broad.mit.edu	37	chr1	153913419	153913419	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	acgctggtgagcaggtctggCcgcagcgagtggactagcag	8	6	17	10	3	1	1	0	1	1	0	1	3	1	2	1	4	3	4	1	4	1	1			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:153913419C>T	ENST00000361217.4	-	9	1705	c.1287G>A	c.(1285-1287)cgG>cgA	p.R429R		NM_014856.2	NP_055671.2	O75064	DEN4B_HUMAN	DENN/MADD domain containing 4B	429	DENN. {ECO:0000255|PROSITE- ProRule:PRU00304}.				positive regulation of Rab GTPase activity (GO:0032851)|regulation of Rab protein signal transduction (GO:0032483)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	36	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			GCAGGTCTGGCCGCAGCGAGT	0.637																																						ENST00000361217.4																			0				NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	36						c.(1285-1287)cgG>cgA		DENN/MADD domain containing 4B							16	23	21					1																	153913419		2067	4200	6267	SO:0001819	synonymous_variant	9909							g.chr1:153913419C>T	AB007945	CCDS44228.1	1q21.3	2012-10-03	2006-01-27	2006-01-27	ENSG00000198837	ENSG00000198837		"DENN/MADD domain containing"	29044	protein-coding gene	gene with protein product			"KIAA0476"	KIAA0476		9455484, 12906859	Standard	NM_014856		Approved		uc001fdd.1	O75064	OTTHUMG00000037157	ENST00000361217.4:c.1287G>A	1.37:g.153913419C>T							p.R429R	NM_014856.2	NP_055671.2	O75064	DEN4B_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.151)		9	1705	-	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		429			DENN.		Q5T4K0	Silent	SNP	ENST00000361217.4	37	c.1287G>A	CCDS44228.1																																																																																				0.637	DENND4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090278.2	XM_375806		7	15	0	0	0	1	0	7	15					T	153913419	C	T	153913419	2	4	305	1	0	0	0	0	0	0	0	1	4434	726	26	3		3	DENND4B	1	153913419	Silent	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	1635326	153913419	95337202	85	14602											
NUP210L	91181	broad.mit.edu	37	chr1	154030638	154030638	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtatttattttggaatgggcGtttggaagagccaagaaccc	11	12	12	6	1	0	2	0	0	0	2	0	4	0	4	2	3	2	2	2	3	6	6	rs202216243	byFrequency	TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:154030638G>A	ENST00000368559.3	-	22	3105	c.3034C>T	c.(3034-3036)Cgc>Tgc	p.R1012C	NUP210L_ENST00000271854.3_Missense_Mutation_p.R1012C|NUP210L_ENST00000368553.1_5'Flank	NM_207308.2	NP_997191.2	Q5VU65	P210L_HUMAN	nucleoporin 210kDa-like	1012					Sertoli cell development (GO:0060009)|spermatid development (GO:0007286)	integral component of membrane (GO:0016021)				NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)			TGGAATGGGCGTTTGGAAGAG	0.393													g|||	2	0.000399361	8e-04	0	5008	,	,		19469	0.001		0	False		,,,				2504	0					ENST00000368559.3																			0				NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80						c.(3034-3036)Cgc>Tgc		nucleoporin 210kDa-like		A	CYS/ARG,CYS/ARG	0,3754		0,0,1877	162	152	155		3034,3034	2.8	1	1		155	1,8211		0,1,4105	no	missense,missense	NUP210L	NM_001159484.1,NM_207308.2	180,180	0,1,5982	AA,AG,GG		0.0122,0.0,0.0084	possibly-damaging,possibly-damaging	1012/1737,1012/1889	154030638	1,11965	1877	4106	5983	SO:0001583	missense	91181					integral to membrane		g.chr1:154030638G>A	AK125924	CCDS41399.1, CCDS53370.1	1q21.3	2008-02-05			ENSG00000143552	ENSG00000143552			29915	protein-coding gene	gene with protein product							Standard	NM_207308		Approved		uc001fdw.3	Q5VU65	OTTHUMG00000035852	ENST00000368559.3:c.3034C>T	1.37:g.154030638G>A	ENSP00000357547:p.Arg1012Cys					NUP210L_ENST00000271854.3_Missense_Mutation_p.R1012C	p.R1012C	NM_207308.2	NP_997191.2	Q5VU65	P210L_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)		22	3105	-	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		1012					E7EP56|Q5T4L7|Q6ZRN1|Q6ZRT4|Q6ZU81|Q8NDI6|Q9UF31	Missense_Mutation	SNP	ENST00000368559.3	37	c.3034C>T	CCDS41399.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	g	13.59	2.282718	0.40394	0.0	1.22E-4	ENSG00000143552	ENST00000368559;ENST00000271854	T;T	0.08008	3.4;3.14	4.76	2.84	0.33178	.	0.738828	0.12257	N	0.485047	T	0.03608	0.0103	L	0.51422	1.61	0.27390	N	0.955155	D;D	0.61697	0.978;0.99	B;B	0.43623	0.328;0.425	T	0.36286	-0.9754	10	0.52906	T	0.07	-7.5123	7.5386	0.27725	0.0905:0.1662:0.7433:0.0	.	1012;1012	E7EP56;Q5VU65	.;P210L_HUMAN	C	1012	ENSP00000357547:R1012C;ENSP00000271854:R1012C	ENSP00000271854:R1012C	R	-	1	0	NUP210L	152297262	0.989000	0.36119	0.980000	0.43619	0.488000	0.33401	2.131000	0.42074	0.590000	0.29694	-0.213000	0.12676	CGC		0.393	NUP210L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087270.3	NM_207308		40	89	0	0	0	1	0	40	89					A	154030638	G	A	154030638	3	1	305	1	0	0	0	0	1	0	0	0	10761	1145	40	1	2708	1	NUP210L	1	154030638	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	117219	154030638	95219983	86	14603											
ATP8B2	57198	broad.mit.edu	37	chr1	154321480	154321480	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atgcggctgagctctctcgcGctctccagcttcaccacccg	5	9	9	18	4	3	1	1	1	2	0	6	1	3	1	3	1	3	4	3	1	0	1	rs557794271		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:154321480G>A	ENST00000368489.3	+	28	3558	c.3558G>A	c.(3556-3558)gcG>gcA	p.A1186A		NM_020452.3	NP_065185.1	P98198	AT8B2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 2	1172					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)		IL6R/ATP8B2(2)	breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			GCTCTCTCGCGCTCTCCAGCT	0.642													G|||	1	0.000199681	0	0	5008	,	,		18290	0		0	False		,,,				2504	0.001					ENST00000368489.3																		IL6R/ATP8B2(2)	0				breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	51						c.(3556-3558)gcG>gcA		ATPase, aminophospholipid transporter, class I, type 8B, member 2							45	44	44					1																	154321480		2203	4300	6503	SO:0001819	synonymous_variant	57198				ATP biosynthetic process	plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr1:154321480G>A	AB032963	CCDS1066.1, CCDS41405.1	1q21.3	2012-03-09	2012-03-09		ENSG00000143515	ENSG00000143515		"ATPases / P-type"	13534	protein-coding gene	gene with protein product		605867	"ATPase, class I, type 8B, member 2"			10574461, 11015572	Standard	NM_020452		Approved	ATPID, KIAA1137	uc001fex.3	P98198	OTTHUMG00000035979	ENST00000368489.3:c.3558G>A	1.37:g.154321480G>A							p.A1186A	NM_020452.3	NP_065185.1	P98198	AT8B2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.185)		28	3558	+	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		1172					B4E3P4|Q6NT69|Q7Z486|Q96I43|Q96NQ7	Silent	SNP	ENST00000368489.3	37	c.3558G>A	CCDS1066.1																																																																																				0.642	ATP8B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087658.2	NM_020452		16	41	0	0	0	1	0	16	41					A	154321480	G	A	154321480	2	1	305	1	0	0	0	0	0	0	0	1	1195	1074	38	1		1	ATP8B2	1	154321480	Silent	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	290842	154321480	94929141	87	14604											
RIT1	6016	broad.mit.edu	37	chr1	155874275	155874275	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgccctcatatactggtcccGcatggctgtaaactctgcct	7	12	8	14	1	2	0	1	0	1	0	3	0	3	0	3	2	4	3	3	2	4	3			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:155874275G>A	ENST00000368323.3	-	5	460	c.256C>T	c.(256-258)Cgg>Tgg	p.R86W	RIT1_ENST00000539040.1_Missense_Mutation_p.R50W|RIT1_ENST00000368322.3_Missense_Mutation_p.R103W	NM_006912.5	NP_008843.1	Q92963	RIT1_HUMAN	Ras-like without CAAX 1	86					GTP catabolic process (GO:0006184)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Ras protein signal transduction (GO:0007265)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	plasma membrane (GO:0005886)	calmodulin binding (GO:0005516)|GTP binding (GO:0005525)			breast(1)|kidney(1)|large_intestine(3)|lung(12)|skin(1)|urinary_tract(1)	19	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;1.79e-05)			TACTGGTCCCGCATGGCTGTA	0.413																																						ENST00000368323.3																			0				breast(1)|kidney(1)|large_intestine(3)|lung(12)|skin(1)|urinary_tract(1)	19						c.(256-258)Cgg>Tgg		Ras-like without CAAX 1							81	69	73					1																	155874275		2203	4300	6503	SO:0001583	missense	6016				nerve growth factor receptor signaling pathway|small GTPase mediated signal transduction	intracellular|plasma membrane	calmodulin binding|GTP binding|GTPase activity	g.chr1:155874275G>A	AF084462	CCDS1123.1, CCDS58037.1, CCDS58036.1	1q21.2	2014-05-09	2002-09-11	2002-09-13	ENSG00000143622	ENSG00000143622			10023	protein-coding gene	gene with protein product	"Ric-like, expressed in many tissues", "GTP-binding protein Roc1"	609591	"Ric (Drosophila)-like, expressed in many tissues"	RIT		8824319, 8918462	Standard	NM_006912		Approved	RIBB, ROC1, MGC125864, MGC125865	uc031pqc.1	Q92963	OTTHUMG00000014104	ENST00000368323.3:c.256C>T	1.37:g.155874275G>A	ENSP00000357306:p.Arg86Trp					RIT1_ENST00000461050.1_5'UTR|RIT1_ENST00000539040.1_Missense_Mutation_p.R50W|RIT1_ENST00000368322.3_Missense_Mutation_p.R103W	p.R86W	NM_006912.5	NP_008843.1	Q92963	RIT1_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;1.79e-05)		5	460	-	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		86					B4DQE8|O00646|O00720|Q5VY89|Q5VY90	Missense_Mutation	SNP	ENST00000368323.3	37	c.256C>T	CCDS1123.1	.	.	.	.	.	.	.	.	.	.	G	19.52	3.843402	0.71488	.	.	ENSG00000143622	ENST00000368323;ENST00000539040;ENST00000368322	T;T;T	0.79845	-1.31;-1.31;-1.31	5.76	3.67	0.42095	Small GTP-binding protein domain (1);	0.000000	0.64402	D	0.000003	D	0.89438	0.6715	M	0.89715	3.055	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	D	0.92091	0.5680	10	0.87932	D	0	.	15.1118	0.72362	0.0:0.0:0.6828:0.3172	.	86	Q92963	RIT1_HUMAN	W	86;50;103	ENSP00000357306:R86W;ENSP00000441950:R50W;ENSP00000357305:R103W	ENSP00000357305:R103W	R	-	1	2	RIT1	154140899	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	1.459000	0.35234	1.412000	0.46977	0.467000	0.42956	CGG		0.413	RIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039593.1	NM_006912		4	40	0	0	0	1	0	4	40					A	155874275	G	A	155874275	3	1	305	1	0	0	0	0	1	0	0	0	13386	1086	38	1	411	1	RIT1	1	155874275	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	1552795	155874275	93376346	88	14605											
ARHGEF2	9181	broad.mit.edu	37	chr1	155920810	155920810	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgctcactctcccggagcCgggcctccaggctgccagct	4	7	11	19	2	2	0	1	0	1	0	4	1	3	1	6	3	4	3	6	3	0	0			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:155920810C>T	ENST00000361247.4	-	20	2612	c.2513G>A	c.(2512-2514)cGg>cAg	p.R838Q	ARHGEF2_ENST00000368316.1_Missense_Mutation_p.R810Q|ARHGEF2_ENST00000313667.4_Missense_Mutation_p.R837Q|ARHGEF2_ENST00000477754.2_Intron|ARHGEF2_ENST00000313695.7_Missense_Mutation_p.R810Q|ARHGEF2_ENST00000368315.4_Missense_Mutation_p.R839Q|ARHGEF2_ENST00000462460.2_Missense_Mutation_p.R883Q	NM_001162383.1|NM_001162384.1	NP_001155855.1|NP_001155856.1	Q92974	ARHG2_HUMAN	Rho/Rac guanine nucleotide exchange factor (GEF) 2	838					actin filament organization (GO:0007015)|apoptotic signaling pathway (GO:0097190)|cell morphogenesis (GO:0000902)|cellular hyperosmotic response (GO:0071474)|cellular response to muramyl dipeptide (GO:0071225)|cellular response to tumor necrosis factor (GO:0071356)|establishment of mitotic spindle orientation (GO:0000132)|innate immune response (GO:0045087)|intracellular protein transport (GO:0006886)|mitotic nuclear division (GO:0007067)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of intrinsic apoptotic signaling pathway in response to osmotic stress (GO:1902219)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of necroptotic process (GO:0060546)|negative regulation of neurogenesis (GO:0050768)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of cell proliferation (GO:0042127)|regulation of Rho protein signal transduction (GO:0035023)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|neuronal cell body (GO:0043025)|protein complex (GO:0043234)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)|vesicle (GO:0031982)	microtubule binding (GO:0008017)|Rac GTPase binding (GO:0048365)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|Rho GTPase binding (GO:0017048)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			breast(4)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|skin(2)	40	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)					CTCCCGGAGCCGGGCCTCCAG	0.697																																					Melanoma(178;35 2768 6610 28839)	ENST00000368316.1																			0				breast(4)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|skin(2)	40						c.(2428-2430)cGg>cAg		Rho/Rac guanine nucleotide exchange factor (GEF) 2							9	10	10					1																	155920810		2183	4245	6428	SO:0001583	missense	9181				actin filament organization|apoptosis|cell division|cell morphogenesis|induction of apoptosis by extracellular signals|intracellular protein transport|mitosis|negative regulation of microtubule depolymerization|nerve growth factor receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|regulation of cell proliferation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|Golgi apparatus|microtubule|ruffle membrane|spindle|tight junction	microtubule binding|Rac GTPase binding|Rac guanyl-nucleotide exchange factor activity|zinc ion binding	g.chr1:155920810C>T	AB014551	CCDS1125.1, CCDS53375.1, CCDS53376.1	1q21-q22	2013-01-10	2009-06-12		ENSG00000116584	ENSG00000116584		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	682	protein-coding gene	gene with protein product		607560	"rho/rac guanine nucleotide exchange factor (GEF) 2"			9857026, 9734811	Standard	NM_004723		Approved	LFP40, GEF-H1, KIAA0651, P40	uc001fmt.2	Q92974	OTTHUMG00000017464	ENST00000361247.4:c.2513G>A	1.37:g.155920810C>T	ENSP00000354837:p.Arg838Gln					ARHGEF2_ENST00000313667.4_Missense_Mutation_p.R837Q|ARHGEF2_ENST00000368315.3_Missense_Mutation_p.R839Q|ARHGEF2_ENST00000361247.4_Missense_Mutation_p.R838Q|ARHGEF2_ENST00000313695.7_Missense_Mutation_p.R810Q	p.R810Q			Q92974	ARHG2_HUMAN			24	2899	-	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		838					D3DVA6|O75142|Q15079|Q5VY92|Q8TDA3|Q8WUG4|Q9H023	Missense_Mutation	SNP	ENST00000361247.4	37	c.2429G>A	CCDS53376.1	.	.	.	.	.	.	.	.	.	.	C	28.9	4.958855	0.92726	.	.	ENSG00000116584	ENST00000313695;ENST00000361247;ENST00000368315;ENST00000368316;ENST00000313667	T;T;T;T;T	0.28666	1.6;1.6;1.6;1.6;1.6	5.12	5.12	0.69794	.	0.000000	0.44483	D	0.000442	T	0.27731	0.0682	N	0.19112	0.55	0.33147	D	0.545185	D;D;D;D	0.71674	0.997;0.997;0.998;0.997	D;D;D;D	0.72982	0.968;0.953;0.979;0.953	T	0.04495	-1.0947	10	0.29301	T	0.29	-32.3256	16.0862	0.81056	0.0:1.0:0.0:0.0	.	882;838;837;839	D3DVA5;Q92974;Q92974-2;Q5VY93	.;ARHG2_HUMAN;.;.	Q	810;838;839;810;837	ENSP00000315325:R810Q;ENSP00000354837:R838Q;ENSP00000357298:R839Q;ENSP00000357299:R810Q;ENSP00000314787:R837Q	ENSP00000314787:R837Q	R	-	2	0	ARHGEF2	154187434	0.982000	0.34865	1.000000	0.80357	0.995000	0.86356	2.839000	0.48207	2.660000	0.90430	0.655000	0.94253	CGG		0.697	ARHGEF2-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000046204.2	NM_004723		15	25	0	0	0	1	0	15	25					T	155920810	C	T	155920810	3	4	305	1	0	0	0	0	1	0	0	0	903	652	23	2	459	2	ARHGEF2	1	155920810	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	46535	155920810	93329811	89	14606											
CRABP2	1382	broad.mit.edu	37	chr1	156670351	156670351	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	taccaggatcagttccccatCgttggtcagttctctggtcc	6	13	9	13	1	3	0	2	0	1	0	7	1	5	1	4	3	1	3	4	3	1	4	rs146571038	byFrequency	TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:156670351C>T	ENST00000368222.3	-	3	503	c.349G>A	c.(349-351)Gat>Aat	p.D117N	CRABP2_ENST00000368221.1_Missense_Mutation_p.D117N	NM_001199723.1|NM_001878.3	NP_001186652.1|NP_001869.1	P29373	RABP2_HUMAN	cellular retinoic acid binding protein 2	117					epidermis development (GO:0008544)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	retinal binding (GO:0016918)|retinoid binding (GO:0005501)|retinol binding (GO:0019841)|transporter activity (GO:0005215)			endometrium(2)|lung(3)|upper_aerodigestive_tract(1)	6	all_hematologic(923;0.088)|Hepatocellular(266;0.158)				Alitretinoin(DB00523)|Tretinoin(DB00755)	AGTTCCCCATCGTTGGTCAGT	0.547																																						ENST00000368222.3																			0				endometrium(2)|lung(3)|upper_aerodigestive_tract(1)	6						c.(349-351)Gat>Aat		cellular retinoic acid binding protein 2	Alitretinoin(DB00523)	C	ASN/ASP,ASN/ASP	0,4406		0,0,2203	120	106	110		349,349	5	1	1	dbSNP_134	110	9,8591	7.1+/-27.0	0,9,4291	yes	missense,missense	CRABP2	NM_001199723.1,NM_001878.3	23,23	0,9,6494	TT,TC,CC		0.1047,0.0,0.0692	benign,benign	117/139,117/139	156670351	9,12997	2203	4300	6503	SO:0001583	missense	1382				epidermis development|regulation of transcription, DNA-dependent|signal transduction	cytoplasm|nucleus	retinal binding|retinol binding|transporter activity	g.chr1:156670351C>T	BC001109	CCDS1152.1	1q21.3	2013-03-01	2001-11-28		ENSG00000143320	ENSG00000143320		"Fatty acid binding protein family"	2339	protein-coding gene	gene with protein product		180231	"cellular retinoic acid-binding protein 2"			1654334	Standard	NM_001878		Approved	CRABP-II	uc001fpr.3	P29373	OTTHUMG00000041300	ENST00000368222.3:c.349G>A	1.37:g.156670351C>T	ENSP00000357205:p.Asp117Asn					CRABP2_ENST00000368221.1_Missense_Mutation_p.D117N	p.D117N	NM_001199723.1|NM_001878.3	NP_001186652.1|NP_001869.1	P29373	RABP2_HUMAN			3	503	-	all_hematologic(923;0.088)|Hepatocellular(266;0.158)		117					B2R4Z8|D3DVC5|F1T098|Q6ICN6	Missense_Mutation	SNP	ENST00000368222.3	37	c.349G>A	CCDS1152.1	.	.	.	.	.	.	.	.	.	.	C	20.5	4.002117	0.74932	0.0	0.001047	ENSG00000143320	ENST00000368222;ENST00000368221	T;T	0.08282	3.11;3.11	4.98	4.98	0.66077	Calycin-like (1);Cytosolic fatty-acid binding (1);Lipocalin/cytosolic fatty-acid binding protein domain (1);Calycin (1);	0.048651	0.85682	D	0.000000	T	0.05823	0.0152	L	0.52573	1.65	0.80722	D	1	P	0.38582	0.638	B	0.37508	0.252	T	0.12553	-1.0543	10	0.62326	D	0.03	.	15.7613	0.78082	0.0:1.0:0.0:0.0	.	117	P29373	RABP2_HUMAN	N	117	ENSP00000357205:D117N;ENSP00000357204:D117N	ENSP00000357204:D117N	D	-	1	0	CRABP2	154936975	1.000000	0.71417	0.965000	0.40720	0.955000	0.61496	5.641000	0.67881	2.319000	0.78375	0.561000	0.74099	GAT		0.547	CRABP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098966.1	NM_001878		4	69	0	0	0	1	0	4	69					T	156670351	C	T	156670351	3	4	305	1	0	0	0	0	1	0	0	0	3844	884	31	2	75	2	CRABP2	1	156670351	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	749541	156670351	92580270	90	14607											
C1orf66	51093	broad.mit.edu	37	chr1	156702121	156702121	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggccctgaagtccacggcGtgtgccctggcctttacccg	4	9	12	16	3	0	1	0	1	0	0	1	1	1	1	5	3	2	0	5	3	2	2	rs548109086		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:156702121G>A	ENST00000368216.4	+	3	915	c.285G>A	c.(283-285)gcG>gcA	p.A95A	RRNAD1_ENST00000476229.1_5'UTR|RRNAD1_ENST00000368218.4_Silent_p.A95A|RRNAD1_ENST00000524343.1_Missense_Mutation_p.V54M	NM_015997.3	NP_057081.3	Q96FB5	RRNAD_HUMAN	ribosomal RNA adenine dimethylase domain containing 1	95						integral component of membrane (GO:0016021)	rRNA (adenine-N6,N6-)-dimethyltransferase activity (GO:0000179)			NS(1)|breast(1)|kidney(1)|large_intestine(3)|lung(3)	9						AGTCCACGGCGTGTGCCCTGG	0.592													G|||	1	0.000199681	0	0	5008	,	,		17069	0		0	False		,,,				2504	0.001					ENST00000524343.1																			0				NS(1)|breast(1)|kidney(1)|large_intestine(3)|lung(3)	9						c.(160-162)Gtg>Atg		ribosomal RNA adenine dimethylase domain containing 1							57	61	60					1																	156702121		2203	4300	6503	SO:0001819	synonymous_variant	51093					integral to membrane	rRNA (adenine-N6,N6-)-dimethyltransferase activity	g.chr1:156702121G>A	BC011382	CCDS1154.1, CCDS44246.1	1q23.1	2011-01-28	2011-01-28	2011-01-28	ENSG00000143303	ENSG00000143303			24273	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 66"	C1orf66		10810093, 310876	Standard	NM_015997		Approved	CGI-41	uc001fpu.3	Q96FB5	OTTHUMG00000041302	ENST00000368216.4:c.285G>A	1.37:g.156702121G>A						RRNAD1_ENST00000476229.1_5'UTR|RRNAD1_ENST00000368216.4_Silent_p.A95A|RRNAD1_ENST00000368218.4_Silent_p.A95A	p.V54M			Q96FB5	RRNAD_HUMAN			2	305	+			0					D3DVC7|Q4VX71|Q5SZ03|Q9Y358	Missense_Mutation	SNP	ENST00000368216.4	37	c.160G>A	CCDS1154.1	.	.	.	.	.	.	.	.	.	.	G	1.720	-0.496822	0.04291	.	.	ENSG00000143303	ENST00000524343	.	.	.	4.63	1.72	0.24424	.	.	.	.	.	T	0.35711	0.0941	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.36016	-0.9765	5	0.56958	D	0.05	-13.9837	2.1208	0.03725	0.1579:0.509:0.1548:0.1782	.	.	.	.	M	54	.	ENSP00000429389:V54M	V	+	1	0	RRNAD1	154968745	0.013000	0.17824	0.523000	0.27875	0.162000	0.22319	-0.752000	0.04797	0.192000	0.20272	-0.228000	0.12330	GTG		0.592	RRNAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098973.1	NM_015997		18	53	0	0	0	1	0	18	53					A	156702121	G	A	156702121	2	1	305	1	0	0	0	0	0	0	0	1	2056	1132	40	1		1	C1orf66	1	156702121	Silent	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	31770	156702121	92548500	91	14608											
ARHGEF11	9826	broad.mit.edu	37	chr1	156917732	156917733	+	Frame_Shift_Ins	INS	-	-	G																															tctgtgcagaaccccaaactINSgggggactcaatgctcctgg																										TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:156917732_156917733insG	ENST00000361409.2	-	24	2791_2792	c.2049_2050insC	c.(2047-2052)cccagtfs	p.S684fs	ARHGEF11_ENST00000315174.8_Frame_Shift_Ins_p.S100fs|ARHGEF11_ENST00000487682.1_5'Flank|ARHGEF11_ENST00000368194.3_Frame_Shift_Ins_p.S724fs	NM_014784.3	NP_055599.1	O15085	ARHGB_HUMAN	Rho guanine nucleotide exchange factor (GEF) 11	684					actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|cellular component movement (GO:0006928)|cytokinesis (GO:0000910)|establishment of cell polarity (GO:0030010)|G-protein coupled receptor signaling pathway (GO:0007186)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell growth (GO:0001558)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)|striated muscle contraction (GO:0006941)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular (GO:0005622)|membrane (GO:0016020)	G-protein coupled receptor binding (GO:0001664)|GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(27)|ovary(4)|pancreas(2)|pleura(1)|prostate(4)|skin(7)|stomach(1)|urinary_tract(2)	81	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					AACCCCAAACTGGGGGACTCAA	0.574																																						ENST00000368194.3																			0				NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(27)|ovary(4)|pancreas(2)|pleura(1)|prostate(4)|skin(7)|stomach(1)|urinary_tract(2)	81						c.(2167-2172)ccgtttfs		Rho guanine nucleotide exchange factor (GEF) 11																																				SO:0001589	frameshift_variant	9826				actin cytoskeleton organization|apoptosis|axon guidance|cellular component movement|cytokinesis|establishment of cell polarity|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cell growth|regulation of Rho protein signal transduction|Rho protein signal transduction|striated muscle contraction	cytosol|Golgi apparatus|plasma membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|signal transducer activity	g.chr1:156917732_156917733insG	AB002378	CCDS1162.1, CCDS1163.1	1q21	2011-11-16			ENSG00000132694	ENSG00000132694		"Rho guanine nucleotide exchange factors"	14580	protein-coding gene	gene with protein product		605708				10526156, 9205841	Standard	NM_014784		Approved	KIAA0380, GTRAP48, PDZ-RHOGEF	uc001fqn.3	O15085	OTTHUMG00000041292	ENST00000361409.2:c.2050dupC	1.37:g.156917737_156917737dupG	ENSP00000354644:p.Ser684fs					ARHGEF11_ENST00000315174.8_Frame_Shift_Ins_p.F100fs|ARHGEF11_ENST00000361409.2_Frame_Shift_Ins_p.F684fs	p.F724fs	NM_198236.2	NP_937879.1	O15085	ARHGB_HUMAN			25	3208_3209	-	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)		684					D3DVD0|Q5VY40|Q6PFW2	Frame_Shift_Ins	INS	ENST00000361409.2	37	c.2169_2170insC	CCDS1162.1																																																																																				0.574	ARHGEF11-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000098931.1	NM_198236		14	30						14	30	---	---	---	---	G	156917733	-	G	156917732	7	5	305	1	0	1	1	0	0	0	0	0	896	1580	55	0	2586	0	ARHGEF11	1	156917732	Frame_Shift_Ins	INS	-	TCGA-KK-A59V-01A-11D-A29Q-08	215611	156917732	92332889	92	14609											
CADM3	57863	broad.mit.edu	37	chr1	159170689	159170689	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcgggcagtcaggaggggacGacaagaaggaatatttcatc	13	6	15	7	2	2	1	2	0	0	1	3	5	2	4	0	5	0	1	0	5	4	2			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:159170689G>A	ENST00000368125.4	+	9	1331	c.1174G>A	c.(1174-1176)Gac>Aac	p.D392N	DARC_ENST00000537147.1_5'Flank|CTA-134P22.2_ENST00000415675.2_RNA|CTA-134P22.2_ENST00000609696.1_RNA|CADM3_ENST00000497636.1_3'UTR|CADM3_ENST00000368124.4_Missense_Mutation_p.D426N	NM_001127173.1	NP_001120645.1	Q8N126	CADM3_HUMAN	cell adhesion molecule 3	392					adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|heterophilic cell-cell adhesion (GO:0007157)|homophilic cell adhesion (GO:0007156)|protein localization (GO:0008104)	cell-cell junction (GO:0005911)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(20)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55	all_hematologic(112;0.0429)					AGGAGGGGACGACAAGAAGGA	0.612																																						ENST00000368125.4																			0				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(20)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						c.(1174-1176)Gac>Aac		cell adhesion molecule 3							86	83	84					1																	159170689		2203	4300	6503	SO:0001583	missense	57863				adherens junction organization|cell junction assembly|heterophilic cell-cell adhesion|homophilic cell adhesion	cell-cell junction|integral to membrane	protein homodimerization activity	g.chr1:159170689G>A	AY046418	CCDS1182.1, CCDS44251.1	1q21.2-q22	2013-01-29	2007-02-07	2007-02-07	ENSG00000162706	ENSG00000162706		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	17601	protein-coding gene	gene with protein product	"nectin-like 1"	609743	"immunoglobulin superfamily, member 4B"	IGSF4B		11536053	Standard	NM_021189		Approved	BIgR, FLJ10698, TSLL1, NECL1, SynCAM3, Necl-1	uc001ftk.2	Q8N126	OTTHUMG00000037177	ENST00000368125.4:c.1174G>A	1.37:g.159170689G>A	ENSP00000357107:p.Asp392Asn					CTA-134P22.2_ENST00000415675.2_RNA|CADM3_ENST00000368124.4_Missense_Mutation_p.D426N|CADM3_ENST00000497636.1_3'UTR	p.D392N	NM_001127173.1	NP_001120645.1	Q8N126	CADM3_HUMAN			9	1331	+	all_hematologic(112;0.0429)		392					Q8IZQ9|Q9NVJ5|Q9UJP1	Missense_Mutation	SNP	ENST00000368125.4	37	c.1174G>A	CCDS44251.1	.	.	.	.	.	.	.	.	.	.	G	25.8	4.680064	0.88542	.	.	ENSG00000162706	ENST00000368124;ENST00000368125	T;T	0.53640	0.61;0.65	3.81	3.81	0.43845	.	0.000000	0.64402	D	0.000001	T	0.43722	0.1260	L	0.27053	0.805	0.58432	D	0.999999	D;P	0.76494	0.999;0.918	D;B	0.68353	0.957;0.268	T	0.49890	-0.8891	10	0.62326	D	0.03	.	13.2211	0.59887	0.0:0.0:1.0:0.0	.	392;426	Q8N126;Q8N126-2	CADM3_HUMAN;.	N	426;392	ENSP00000357106:D426N;ENSP00000357107:D392N	ENSP00000357106:D426N	D	+	1	0	CADM3	157437313	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.148000	0.77389	1.965000	0.57142	0.591000	0.81541	GAC		0.612	CADM3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000090330.1	NM_021189		18	79	0	0	0	1	0	18	79					A	159170689	G	A	159170689	3	1	305	1	0	0	0	0	1	0	0	0	2568	1058	37	2	1314	2	CADM3	1	159170689	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	2252957	159170689	90079932	93	14610											
SLAMF8	56833	broad.mit.edu	37	chr1	159799839	159799839	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggagactctgtaccattcccGcttcctgggccgagcccagc	6	8	11	16	2	1	1	0	0	1	1	3	3	3	1	5	2	3	2	5	2	1	3	rs534230763		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:159799839G>A	ENST00000289707.5	+	2	373	c.224G>A	c.(223-225)cGc>cAc	p.R75H	SLAMF8_ENST00000471286.1_3'UTR|SLAMF8_ENST00000368104.4_Intron	NM_020125.2	NP_064510.1	Q9P0V8	SLAF8_HUMAN	SLAM family member 8	75					cellular response to drug (GO:0035690)|defense response to bacterium (GO:0042742)|phagosome acidification (GO:0090383)|regulation of kinase activity (GO:0043549)|regulation of NAD(P)H oxidase activity (GO:0033860)	integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			endometrium(2)|large_intestine(4)|lung(6)	12	all_hematologic(112;0.0597)					TACCATTCCCGCTTCCTGGGC	0.607													G|||	1	0.000199681	0	0	5008	,	,		19814	0		0	False		,,,				2504	0.001					ENST00000289707.5																			0				endometrium(2)|large_intestine(4)|lung(6)	12						c.(223-225)cGc>cAc		SLAM family member 8							87	94	91					1																	159799839		2203	4300	6503	SO:0001583	missense	56833					integral to membrane		g.chr1:159799839G>A	AF146761	CCDS1188.1	1q23.1	2013-01-11			ENSG00000158714	ENSG00000158714		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	21391	protein-coding gene	gene with protein product		606620				11313408	Standard	NM_020125		Approved	BLAME, SBBI42, CD353	uc001fue.4	Q9P0V8	OTTHUMG00000035433	ENST00000289707.5:c.224G>A	1.37:g.159799839G>A	ENSP00000289707:p.Arg75His					SLAMF8_ENST00000471286.1_3'UTR|SLAMF8_ENST00000368104.4_Intron	p.R75H	NM_020125.2	NP_064510.1	Q9P0V8	SLAF8_HUMAN			2	373	+	all_hematologic(112;0.0597)		75					Q32MC6|Q5VU15	Missense_Mutation	SNP	ENST00000289707.5	37	c.224G>A	CCDS1188.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.124648	0.77436	.	.	ENSG00000158714	ENST00000289707	T	0.23950	1.88	4.44	4.44	0.53790	.	0.361926	0.26836	N	0.022255	T	0.21801	0.0525	L	0.34521	1.04	0.80722	D	1	D	0.76494	0.999	P	0.57846	0.828	T	0.01039	-1.1472	10	0.39692	T	0.17	-15.9453	12.4262	0.55548	0.0:0.0:1.0:0.0	.	75	Q9P0V8	SLAF8_HUMAN	H	75	ENSP00000289707:R75H	ENSP00000289707:R75H	R	+	2	0	SLAMF8	158066463	1.000000	0.71417	1.000000	0.80357	0.742000	0.42306	2.231000	0.43009	2.296000	0.77279	0.313000	0.20887	CGC		0.607	SLAMF8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085983.1	NM_020125		15	217	0	0	0	1	0	15	217					A	159799839	G	A	159799839	3	1	305	1	0	0	0	0	1	0	0	0	14370	1087	38	1	230	1	SLAMF8	1	159799839	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	629150	159799839	89450782	94	14611											
LRRC52	440699	broad.mit.edu	37	chr1	165514022	165514022	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcagaaataccggcttgcaGaccctggacagtgctgcctt	9	9	10	13	1	1	2	1	0	0	2	1	3	1	3	3	2	4	3	3	2	2	3			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:165514022G>T	ENST00000294818.1	+	1	779	c.489G>T	c.(487-489)caG>caT	p.Q163H	RP11-280O1.2_ENST00000421273.1_RNA|RP11-280O1.2_ENST00000438275.1_RNA|RP11-280O1.2_ENST00000416424.1_RNA	NM_001005214.3	NP_001005214.2	Q8N7C0	LRC52_HUMAN	leucine rich repeat containing 52	163					ion transport (GO:0006811)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)	18	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)					CCGGCTTGCAGACCCTGGACA	0.517																																						ENST00000294818.1																			0				NS(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)	18						c.(487-489)caG>caT		leucine rich repeat containing 52							158	157	157					1																	165514022		2203	4300	6503	SO:0001583	missense	440699					integral to membrane		g.chr1:165514022G>T	AK098677	CCDS30930.1	1q23.3	2008-02-05			ENSG00000162763	ENSG00000162763			32156	protein-coding gene	gene with protein product		615218					Standard	NM_001005214		Approved	FLJ25811	uc001gde.2	Q8N7C0	OTTHUMG00000034625	ENST00000294818.1:c.489G>T	1.37:g.165514022G>T	ENSP00000294818:p.Gln163His					RP11-280O1.2_ENST00000438275.1_RNA|RP11-280O1.2_ENST00000421273.1_RNA|RP11-280O1.2_ENST00000416424.1_RNA	p.Q163H	NM_001005214.3	NP_001005214.2	Q8N7C0	LRC52_HUMAN			1	779	+	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)		163					A2RUN7|Q5T9K5	Missense_Mutation	SNP	ENST00000294818.1	37	c.489G>T	CCDS30930.1	.	.	.	.	.	.	.	.	.	.	G	8.773	0.926393	0.18056	.	.	ENSG00000162763	ENST00000294818	T	0.02498	4.27	5.39	0.874	0.19124	.	0.343827	0.31323	N	0.007851	T	0.00906	0.0030	N	0.25890	0.77	0.26885	N	0.96745	B	0.09022	0.002	B	0.15484	0.013	T	0.45629	-0.9248	9	0.49607	T	0.09	.	9.9808	0.41813	0.0825:0.5272:0.3903:0.0	.	163	Q8N7C0	LRC52_HUMAN	H	163	ENSP00000294818:Q163H	ENSP00000294818:Q163H	Q	+	3	2	LRRC52	163780646	0.941000	0.31946	0.996000	0.52242	0.673000	0.39480	0.305000	0.19254	0.585000	0.29608	0.563000	0.77884	CAG		0.517	LRRC52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083793.1	NM_001005214		6	185	1	0	0.00116845	1	0.00118598	6	185					T	165514022	G	T	165514022	3	4	305	1	0	0	0	0	1	0	0	0	9010	933	33	5	491	5	LRRC52	1	165514022	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	5714183	165514022	83736599	95	14612											
TBX19	9095	broad.mit.edu	37	chr1	168282117	168282117	+	Frame_Shift_Del	DEL	G	G	-																															tcggctggtgtggaggttctGggggagccctcgctaaccag																								rs149058755		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:168282117delG	ENST00000367821.3	+	8	1275	c.1224delG	c.(1222-1224)ctgfs	p.L408fs	TBX19_ENST00000465440.1_3'UTR	NM_005149.2	NP_005140.1	O60806	TBX19_HUMAN	T-box 19	408					anatomical structure morphogenesis (GO:0009653)|cell fate commitment (GO:0045165)|pituitary gland development (GO:0021983)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell differentiation (GO:0045595)|regulation of cell proliferation (GO:0042127)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	enhancer sequence-specific DNA binding (GO:0001158)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|liver(1)|lung(11)|prostate(2)|skin(2)|urinary_tract(1)	34	all_hematologic(923;0.215)					TGGAGGTTCTGGGGGAGCCCT	0.642																																						ENST00000367821.3																			0				NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|liver(1)|lung(11)|prostate(2)|skin(2)|urinary_tract(1)	34						c.(1222-1224)ctfs		T-box 19							53	46	49					1																	168282117		2203	4300	6503	SO:0001589	frameshift_variant	9095				anatomical structure morphogenesis	nucleus	DNA binding	g.chr1:168282117delG	AJ010277	CCDS1272.1	1q23-q24	2008-02-05			ENSG00000143178	ENSG00000143178		"T-boxes"	11596	protein-coding gene	gene with protein product	"TBS 19"	604614				9888994	Standard	NM_005149		Approved	dj747L4.1, TPIT	uc001gfl.3	O60806	OTTHUMG00000034648	ENST00000367821.3:c.1224delG	1.37:g.168282117delG	ENSP00000356795:p.Leu408fs					TBX19_ENST00000465440.1_3'UTR	p.L408fs	NM_005149.2	NP_005140.1	O60806	TBX19_HUMAN			8	1275	+	all_hematologic(923;0.215)		408					Q52M53	Frame_Shift_Del	DEL	ENST00000367821.3	37	c.1224delG	CCDS1272.1																																																																																				0.642	TBX19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083825.1	NM_005149		20	52						20	52	---	---	---	---	-	168282117	G	-	168282117	7	5	305	1	0	1	0	1	0	0	0	0	15651	1335	47	0	1254	0	TBX19	1	168282117	Frame_Shift_Del	DEL	G	TCGA-KK-A59V-01A-11D-A29Q-08	2768095	168282117	80968504	96	14613											
DARS2	55157	broad.mit.edu	37	chr1	173822937	173822937	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tctgtgaatcttctaggcccGtagccaacactatgacttgg	9	12	9	11	1	3	2	0	2	3	0	3	2	3	2	2	2	2	1	2	2	5	5			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:173822937G>A	ENST00000361951.4	+	15	2295	c.1568G>A	c.(1567-1569)cGt>cAt	p.R523H	DARS2_ENST00000471476.1_Intron|DARS2_ENST00000239457.5_Intron	NM_018122.4	NP_060592.2	Q6PI48	SYDM_HUMAN	aspartyl-tRNA synthetase 2, mitochondrial	523					gene expression (GO:0010467)|mitochondrial asparaginyl-tRNA aminoacylation (GO:0070145)|tRNA aminoacylation (GO:0043039)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	aspartate-tRNA ligase activity (GO:0004815)|aspartate-tRNA(Asn) ligase activity (GO:0050560)|ATP binding (GO:0005524)|protein homodimerization activity (GO:0042803)|tRNA binding (GO:0000049)			breast(4)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|urinary_tract(1)	30					L-Aspartic Acid(DB00128)	TTCTAGGCCCGTAGCCAACAC	0.388																																						ENST00000361951.4																			0				breast(4)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|urinary_tract(1)	30						c.(1567-1569)cGt>cAt		aspartyl-tRNA synthetase 2, mitochondrial	L-Aspartic Acid(DB00128)						106	109	108					1																	173822937		2203	4300	6503	SO:0001583	missense	55157				tRNA aminoacylation for protein translation	mitochondrial matrix|nucleus	aspartate-tRNA ligase activity|ATP binding|nucleic acid binding	g.chr1:173822937G>A	AK022754	CCDS1311.1	1q25.1	2011-07-01	2007-02-23		ENSG00000117593	ENSG00000117593	6.1.1.12	"Aminoacyl tRNA synthetases / Class II"	25538	protein-coding gene	gene with protein product	"aspartate tRNA ligase 2, mitochondrial"	610956				15779907	Standard	NM_018122		Approved	FLJ10514	uc001gjh.2	Q6PI48	OTTHUMG00000034803	ENST00000361951.4:c.1568G>A	1.37:g.173822937G>A	ENSP00000355086:p.Arg523His					DARS2_ENST00000471476.1_Intron|DARS2_ENST00000239457.5_Intron	p.R523H	NM_018122.4	NP_060592.2	Q6PI48	SYDM_HUMAN			15	2295	+			523						Missense_Mutation	SNP	ENST00000361951.4	37	c.1568G>A	CCDS1311.1	.	.	.	.	.	.	.	.	.	.	G	32	5.183777	0.94885	.	.	ENSG00000117593	ENST00000361951	T	0.80033	-1.33	4.65	4.65	0.58169	Aminoacyl-tRNA synthetase, class II (1);Aminoacyl-tRNA synthetase, class II (D/K/N) (1);	0.055932	0.64402	D	0.000001	D	0.87450	0.6180	M	0.76433	2.335	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.88529	0.3101	10	0.59425	D	0.04	-15.4489	16.6683	0.85259	0.0:0.0:1.0:0.0	.	523	Q6PI48	SYDM_HUMAN	H	523	ENSP00000355086:R523H	ENSP00000355086:R523H	R	+	2	0	DARS2	172089560	1.000000	0.71417	0.997000	0.53966	0.981000	0.71138	9.447000	0.97595	2.304000	0.77564	0.591000	0.81541	CGT		0.388	DARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084220.1	NM_018122		24	66	0	0	0	1	0	24	66					A	173822937	G	A	173822937	3	1	305	1	0	0	0	0	1	0	0	0	4242	1145	40	1	1626	1	DARS2	1	173822937	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	5540820	173822937	75427684	97	14614											
KIAA1614	57710	broad.mit.edu	37	chr1	180914516	180914516	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctggctcgcaccgtgggccGcctggtggaggtgttcccag	3	8	16	14	3	0	0	0	0	0	0	2	1	1	1	5	5	0	3	5	5	0	1			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:180914516G>A	ENST00000367588.4	+	9	3420	c.3365G>A	c.(3364-3366)cGc>cAc	p.R1122H	RP11-46A10.5_ENST00000358073.2_RNA|KIAA1614_ENST00000367587.1_Missense_Mutation_p.R743H|KIAA1614_ENST00000461346.1_3'UTR	NM_020950.1	NP_066001.1	Q5VZ46	K1614_HUMAN	KIAA1614	1122										NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	33						ACCGTGGGCCGCCTGGTGGAG	0.692																																						ENST00000367588.4																			0				NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	33						c.(3364-3366)cGc>cAc		KIAA1614							29	33	32					1																	180914516		1976	4140	6116	SO:0001583	missense	57710							g.chr1:180914516G>A	AB046834	CCDS41442.1	1q25.3	2008-02-05			ENSG00000135835	ENSG00000135835			29327	protein-coding gene	gene with protein product							Standard	NM_020950		Approved		uc001gok.2	Q5VZ46	OTTHUMG00000035183	ENST00000367588.4:c.3365G>A	1.37:g.180914516G>A	ENSP00000356560:p.Arg1122His					KIAA1614_ENST00000367587.1_Missense_Mutation_p.R743H|KIAA1614_ENST00000461346.1_3'UTR|RP11-46A10.5_ENST00000358073.2_RNA	p.R1122H	NM_020950.1	NP_066001.1	Q5VZ46	K1614_HUMAN			9	3420	+			1122					Q5VZ45|Q9HCF8	Missense_Mutation	SNP	ENST00000367588.4	37	c.3365G>A	CCDS41442.1	.	.	.	.	.	.	.	.	.	.	G	15.51	2.853724	0.51270	.	.	ENSG00000135835	ENST00000367588;ENST00000367587	T;T	0.49720	1.37;0.77	4.91	3.02	0.34903	.	0.125439	0.53938	N	0.000057	T	0.44912	0.1316	M	0.75264	2.295	0.33823	D	0.629246	B;P	0.41420	0.308;0.749	B;B	0.35114	0.067;0.196	T	0.61806	-0.6987	9	0.87932	D	0	-11.655	11.1301	0.48341	0.1546:0.0:0.8454:0.0	.	743;1122	Q5VZ46-2;Q5VZ46	.;K1614_HUMAN	H	1122;743	ENSP00000356560:R1122H;ENSP00000356559:R743H	ENSP00000356559:R743H	R	+	2	0	KIAA1614	179181139	0.999000	0.42202	0.458000	0.27068	0.640000	0.38277	4.079000	0.57613	0.474000	0.27392	0.655000	0.94253	CGC		0.692	KIAA1614-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000085151.1	XM_046531		20	54	0	0	0	1	0	20	54					A	180914516	G	A	180914516	3	1	305	1	0	0	0	0	1	0	0	0	8248	1087	38	1	3399	1	KIAA1614	1	180914516	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	7091579	180914516	68336105	98	14615											
SMG7	9887	broad.mit.edu	37	chr1	183511408	183511408	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaatttaagcaacaactgtgAcacaggagagaagccagtgg	17	6	11	7	0	0	2	0	1	0	1	0	4	0	3	1	2	4	1	1	2	5	2			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:183511408A>G	ENST00000347615.2	+	14	1732	c.1613A>G	c.(1612-1614)gAc>gGc	p.D538G	SMG7_ENST00000515829.2_Missense_Mutation_p.D538G|SMG7_ENST00000507469.1_Missense_Mutation_p.D538G|SMG7_ENST00000508461.1_Missense_Mutation_p.D496G|SMG7_ENST00000367537.3_Missense_Mutation_p.D567G|SMG7_ENST00000456731.2_Missense_Mutation_p.D496G	NM_173156.2	NP_775179.1	Q92540	SMG7_HUMAN	SMG7 nonsense mediated mRNA decay factor	538					gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of dephosphorylation (GO:0035303)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)	protein phosphatase 2A binding (GO:0051721)			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(16)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						AACAACTGTGACACAGGAGAG	0.453																																						ENST00000367537.3																			0				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(16)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						c.(1699-1701)gAc>gGc		SMG7 nonsense mediated mRNA decay factor							130	132	131					1																	183511408		2203	4300	6503	SO:0001583	missense	9887				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation	cytoplasm|intermediate filament cytoskeleton|nucleus	protein phosphatase 2A binding	g.chr1:183511408A>G	D87437	CCDS1355.1, CCDS41445.1, CCDS41445.2, CCDS53444.1, CCDS53445.1	1q25	2013-07-02	2013-07-02	2006-02-16	ENSG00000116698	ENSG00000116698			16792	protein-coding gene	gene with protein product	"EST1 telomerase component homolog C (S. cerevisiae)"	610964	"chromosome 1 open reading frame 16", "smg-7 homolog, nonsense mediated mRNA decay factor (C. elegans)"	C1orf16		14636577, 15721257	Standard	NM_173156		Approved	KIAA0250, EST1C, SGA56M, SMG-7	uc001gqf.3	Q92540	OTTHUMG00000035221	ENST00000347615.2:c.1613A>G	1.37:g.183511408A>G	ENSP00000340766:p.Asp538Gly					SMG7_ENST00000507469.1_Missense_Mutation_p.D538G|SMG7_ENST00000508461.1_Missense_Mutation_p.D496G|SMG7_ENST00000456731.2_Missense_Mutation_p.D496G|SMG7_ENST00000515829.2_Missense_Mutation_p.D538G|SMG7_ENST00000347615.2_Missense_Mutation_p.D538G	p.D567G			Q92540	SMG7_HUMAN			15	1895	+			538					B4DRB2|E9PCI0|E9PEH2|Q5T1Q0|Q6PIE0|Q7Z7H9|Q8IXC1|Q8IXC2	Missense_Mutation	SNP	ENST00000347615.2	37	c.1700A>G	CCDS1355.1	.	.	.	.	.	.	.	.	.	.	A	22.9	4.353548	0.82243	.	.	ENSG00000116698	ENST00000456731;ENST00000367537;ENST00000508461;ENST00000419169;ENST00000347615;ENST00000507469;ENST00000515829	T;T;T;T;T;T;T	0.59083	0.29;0.29;0.29;0.29;0.29;0.29;0.29	4.94	4.94	0.65067	.	0.048822	0.85682	D	0.000000	T	0.64853	0.2636	L	0.29908	0.895	0.80722	D	1	D;D;D;D;D;D	0.69078	0.997;0.993;0.993;0.996;0.997;0.993	D;D;D;D;D;D	0.79784	0.989;0.984;0.984;0.993;0.989;0.984	T	0.65384	-0.6181	10	0.41790	T	0.15	-7.8086	14.8887	0.70590	1.0:0.0:0.0:0.0	.	496;567;496;538;538;538	E9PCI0;E9PD50;E9PCE5;Q92540-2;Q92540;E9PEH2	.;.;.;.;SMG7_HUMAN;.	G	496;567;496;496;538;538;538	ENSP00000407629:D496G;ENSP00000356507:D567G;ENSP00000426915:D496G;ENSP00000388390:D496G;ENSP00000340766:D538G;ENSP00000425133:D538G;ENSP00000421358:D538G	ENSP00000340766:D538G	D	+	2	0	SMG7	181778031	1.000000	0.71417	0.948000	0.38648	0.988000	0.76386	8.345000	0.90057	1.963000	0.57068	0.533000	0.62120	GAC		0.453	SMG7-002	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000085432.1	NM_014837		56	122	0	0	0	1	0	56	122					G	183511408	A	G	183511408	3	3	305	1	0	0	0	0	1	0	0	0	14798	275	10	4	1667	4	SMG7	1	183511408	Missense_Mutation	SNP	A	TCGA-KK-A59V-01A-11D-A29Q-08	2596892	183511408	65739213	99	14616											
ARPC5	10092	broad.mit.edu	37	chr1	183602245	183602245	+	Frame_Shift_Del	DEL	G	G	-																															cctgactcttggtgttgataGgggggttcttcagagctgcc																										TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:183602245delG	ENST00000359856.6	-	2	254	c.188delC	c.(187-189)cctfs	p.P63fs	ARPC5_ENST00000294742.6_Frame_Shift_Del_p.P66fs|ARPC5_ENST00000367534.1_Frame_Shift_Del_p.P63fs|RGL1_ENST00000536277.1_5'Flank|RGL1_ENST00000304685.4_5'Flank|ARPC5_ENST00000462965.1_5'UTR	NM_005717.3	NP_005708.1	O15511	ARPC5_HUMAN	actin related protein 2/3 complex, subunit 5, 16kDa	63					actin cytoskeleton organization (GO:0030036)|Arp2/3 complex-mediated actin nucleation (GO:0034314)|cellular component movement (GO:0006928)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)	actin cytoskeleton (GO:0015629)|Arp2/3 protein complex (GO:0005885)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)	structural constituent of cytoskeleton (GO:0005200)			cervix(1)|large_intestine(1)|lung(2)	4						GGTGTTGATAGGGGGGTTCTT	0.468																																					Melanoma(136;1596 1789 3041 4830 41075)	ENST00000359856.6																			0				cervix(1)|large_intestine(1)|lung(2)	4						c.(187-189)ctfs		actin related protein 2/3 complex, subunit 5, 16kDa							142	144	143					1																	183602245		2203	4300	6503	SO:0001589	frameshift_variant	10092				actin cytoskeleton organization|cellular component movement|regulation of actin filament polymerization	Arp2/3 protein complex|cell projection|cytoplasm	actin binding|structural constituent of cytoskeleton	g.chr1:183602245delG	AF017807	CCDS1357.1, CCDS58050.1	1q	2011-07-06	2002-08-29		ENSG00000162704	ENSG00000162704		"Actin related protein 2/3 complex subunits"	708	protein-coding gene	gene with protein product	"Arp2/3 protein complex subunit p16"	604227	"actin related protein 2/3 complex, subunit 5 (16 kD)"			9359840, 9230079	Standard	NM_005717		Approved	p16-Arc, ARC16, dJ127C7.3	uc021pgb.2	O15511	OTTHUMG00000035326	ENST00000359856.6:c.188delC	1.37:g.183602245delG	ENSP00000352918:p.Pro63fs					ARPC5_ENST00000462965.1_5'UTR|ARPC5_ENST00000294742.6_Frame_Shift_Del_p.P66fs|ARPC5_ENST00000367534.1_Frame_Shift_Del_p.P63fs	p.P63fs	NM_005717.3	NP_005708.1	O15511	ARPC5_HUMAN			2	254	-			63					A6NEC4|Q6PG42	Frame_Shift_Del	DEL	ENST00000359856.6	37	c.188delC	CCDS1357.1																																																																																				0.468	ARPC5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000085477.1	NM_005717		51	187						51	187	---	---	---	---	-	183602245	G	-	183602245	7	5	305	1	0	1	0	1	0	0	0	0	974	1000	35	0	279	0	ARPC5	1	183602245	Frame_Shift_Del	DEL	G	TCGA-KK-A59V-01A-11D-A29Q-08	90837	183602245	65648376	100	14617											
CRB1	23418	broad.mit.edu	37	chr1	197398616	197398616	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tggaggtgtttgccattcccGgtgggatgacttctcctgtt	4	15	13	9	1	1	1	0	1	1	0	3	3	2	3	3	4	1	2	3	4	0	4	rs114052315	byFrequency	TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:197398616G>A	ENST00000367400.3	+	8	2849	c.2714G>A	c.(2713-2715)cGg>cAg	p.R905Q	CRB1_ENST00000367397.1_Missense_Mutation_p.R286Q|CRB1_ENST00000535699.1_Missense_Mutation_p.R881Q|CRB1_ENST00000367399.2_Missense_Mutation_p.R793Q|CRB1_ENST00000538660.1_Intron|CRB1_ENST00000544212.1_Missense_Mutation_p.R386Q	NM_201253.2	NP_957705.1	P82279	CRUM1_HUMAN	crumbs family member 1, photoreceptor morphogenesis associated	905	EGF-like 13. {ECO:0000255|PROSITE- ProRule:PRU00076}.		R -> Q (in dbSNP:rs114052315). {ECO:0000269|PubMed:15459956}.		cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|eye photoreceptor cell development (GO:0042462)|plasma membrane organization (GO:0007009)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						TGCCATTCCCGGTGGGATGAC	0.507													G|||	5	0.000998403	0	0	5008	,	,		17481	0.004		0.001	False		,,,				2504	0					ENST00000367397.1																			0				NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132	GRCh37	CM057654	CRB1	M	rs114052315	c.(856-858)cGg>cAg		crumbs homolog 1 (Drosophila)		G	GLN/ARG,GLN/ARG	0,4406		0,0,2203	185	167	173		2378,2714	3.2	0.7	1	dbSNP_132	173	3,8597	3.0+/-9.4	0,3,4297	yes	missense,missense	CRB1	NM_001193640.1,NM_201253.2	43,43	0,3,6500	AA,AG,GG		0.0349,0.0,0.0231	benign,benign	793/1295,905/1407	197398616	3,13003	2203	4300	6503	SO:0001583	missense	23418				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding	g.chr1:197398616G>A		CCDS1390.1, CCDS53454.1, CCDS58052.1, CCDS58053.1	1q31-q32.1	2014-02-06	2014-02-06		ENSG00000134376	ENSG00000134376			2343	protein-coding gene	gene with protein product		604210	"crumbs (Drosophila) homolog 1", "crumbs homolog 1 (Drosophila)"	RP12		10373321, 10508521	Standard	NM_201253		Approved	LCA8	uc001gtz.3	P82279	OTTHUMG00000035663	ENST00000367400.3:c.2714G>A	1.37:g.197398616G>A	ENSP00000356370:p.Arg905Gln					CRB1_ENST00000367400.3_Missense_Mutation_p.R905Q|CRB1_ENST00000538660.1_Intron|CRB1_ENST00000544212.1_Missense_Mutation_p.R386Q|CRB1_ENST00000535699.1_Missense_Mutation_p.R881Q|CRB1_ENST00000367399.2_Missense_Mutation_p.R793Q	p.R286Q			P82279	CRUM1_HUMAN			4	1715	+			905			EGF-like 7; calcium-binding (Potential).		A2A308|B7Z5T2|B9EG71|Q5K3A6|Q5TC28|Q5VUT1|Q6N027|Q8WWY0|Q8WWY1	Missense_Mutation	SNP	ENST00000367400.3	37	c.857G>A	CCDS1390.1	4	0.0018315018315018315	0	0.0	0	0.0	4	0.006993006993006993	0	0.0	G	12.33	1.906619	0.33628	0.0	3.49E-4	ENSG00000134376	ENST00000535699;ENST00000367400;ENST00000367399;ENST00000544212;ENST00000367397;ENST00000367401	D;T;T;T;T	0.92397	-3.03;-0.87;-0.87;-0.87;-0.87	5.55	3.25	0.37280	Concanavalin A-like lectin/glucanase, subgroup (1);EGF (1);Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	.	.	.	.	T	0.76849	0.4045	N	0.16790	0.44	0.09310	N	1	B;B;B;B	0.31318	0.057;0.319;0.18;0.215	B;B;B;B	0.27076	0.034;0.038;0.046;0.076	T	0.64407	-0.6415	9	0.10636	T	0.68	.	8.5223	0.33285	0.0:0.0678:0.1317:0.8005	.	881;793;554;905	F5H0L2;P82279-3;P82279-4;P82279	.;.;.;CRUM1_HUMAN	Q	881;905;793;386;286;554	ENSP00000438786:R881Q;ENSP00000356370:R905Q;ENSP00000356369:R793Q;ENSP00000444556:R386Q;ENSP00000356367:R286Q	ENSP00000356367:R286Q	R	+	2	0	CRB1	195665239	0.900000	0.30661	0.730000	0.30809	0.410000	0.31052	1.254000	0.32897	0.392000	0.25172	-0.264000	0.10439	CGG		0.507	CRB1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086565.2	NM_201253		43	100	0	0	0	1	0	43	100					A	197398616	G	A	197398616	3	1	305	1	0	0	0	0	1	0	0	0	3848	1116	39	2	2744	2	CRB1	1	197398616	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	13796371	197398616	51852005	101	14618											
NAV1	89796	broad.mit.edu	37	chr1	201618018	201618018	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	aagtccggcagcgtggacagCcgtgtccccggcgggccgcc	5	4	16	16	6	0	0	0	0	0	0	2	1	2	1	6	4	2	1	6	4	1	0			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:201618018C>T	ENST00000367296.4	+	1	642	c.222C>T	c.(220-222)agC>agT	p.S74S	NAV1_ENST00000295624.6_Silent_p.S74S|NAV1_ENST00000367297.4_Silent_p.S74S|NAV1_ENST00000367302.1_Silent_p.S87S|NAV1_ENST00000367300.3_Silent_p.S74S	NM_020443.4	NP_065176.3	Q8NEY1	NAV1_HUMAN	neuron navigator 1	74					microtubule bundle formation (GO:0001578)|neuron migration (GO:0001764)	cytoplasm (GO:0005737)|microtubule (GO:0005874)				breast(5)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(29)|ovary(4)|prostate(3)|skin(1)|stomach(2)	70						GCGTGGACAGCCGTGTCCCCG	0.667																																						ENST00000367296.4																			0				breast(5)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(29)|ovary(4)|prostate(3)|skin(1)|stomach(2)	70						c.(220-222)agC>agT		neuron navigator 1							18	22	21					1																	201618018		2188	4265	6453	SO:0001819	synonymous_variant	89796				cell differentiation|nervous system development	cytoplasm|microtubule	nucleoside-triphosphatase activity|nucleotide binding	g.chr1:201618018C>T	AF086348	CCDS1414.1, CCDS1414.2, CCDS53456.1	1q32.3	2008-07-18			ENSG00000134369	ENSG00000134369			15989	protein-coding gene	gene with protein product	"neuron navigator-1", "pore membrane and/or filament interacting like protein 3"	611628				12079279, 12062803	Standard	NM_020443		Approved	FLJ12560, FLJ14203, KIAA1151, MGC14961, POMFIL3, steerin-1, DKFZp781D0314	uc001gwu.3	Q8NEY1	OTTHUMG00000035766	ENST00000367296.4:c.222C>T	1.37:g.201618018C>T						NAV1_ENST00000367297.4_Silent_p.S74S|NAV1_ENST00000367302.1_Silent_p.S87S|NAV1_ENST00000295624.6_Silent_p.S74S|NAV1_ENST00000367300.3_Silent_p.S74S	p.S74S	NM_020443.4	NP_065176.3	Q8NEY1	NAV1_HUMAN			1	642	+			74					A8MS88|Q5SVH1|Q5SVH2|Q5SVH3|Q5SVH7|Q5VUY9|Q8IVL2|Q96II1|Q9H7V9|Q9H9S9|Q9H9T5|Q9UGI1|Q9ULK7|Q9ULR9	Silent	SNP	ENST00000367296.4	37	c.222C>T	CCDS1414.2																																																																																				0.667	NAV1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000087013.1	NM_020443		16	54	0	0	0	1	0	16	54					T	201618018	C	T	201618018	2	4	305	1	0	0	0	0	0	0	0	1	10183	738	26	3		3	NAV1	1	201618018	Silent	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	4219402	201618018	47632603	102	14619											
KDM5B	10765	broad.mit.edu	37	chr1	202698198	202698198	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtgcgtccttcacagtacagCgcacacagatgtagtcttct	9	11	9	12	2	3	1	1	0	2	1	4	1	4	1	1	0	3	3	1	0	2	4	rs536339877		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:202698198C>T	ENST00000367265.3	-	27	5765	c.4601G>A	c.(4600-4602)cGc>cAc	p.R1534H	KDM5B_ENST00000367264.2_Missense_Mutation_p.R1570H	NM_006618.3	NP_006609.3	Q9UGL1	KDM5B_HUMAN	lysine (K)-specific demethylase 5B	1534					histone H3-K4 demethylation (GO:0034720)|histone H3-K4 demethylation, trimethyl-H3-K4-specific (GO:0034721)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone demethylase activity (H3-dimethyl-K4 specific) (GO:0034648)|histone demethylase activity (H3-trimethyl-K4 specific) (GO:0034647)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			breast(2)|ovary(2)|skin(1)|urinary_tract(1)	6						CACAGTACAGCGCACACAGAT	0.473													C|||	1	0.000199681	0	0	5008	,	,		16914	0		0.001	False		,,,				2504	0					ENST00000367265.3																			0				breast(2)|ovary(2)|skin(1)|urinary_tract(1)	6						c.(4600-4602)cGc>cAc		lysine (K)-specific demethylase 5B							135	130	132					1																	202698198		2203	4300	6503	SO:0001583	missense	10765				negative regulation of transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-trimethyl-K4 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding	g.chr1:202698198C>T	AJ243706	CCDS30974.1	1q32.1	2014-06-12	2009-04-06	2009-04-06	ENSG00000117139	ENSG00000117139		"Chromatin-modifying enzymes / K-demethylases", "Zinc fingers, PHD-type"	18039	protein-coding gene	gene with protein product	"cancer/testis antigen 31", "protein phosphatase 1, regulatory subunit 98"	605393	"Jumonji, AT rich interactive domain 1B (RBP2-like)", "jumonji, AT rich interactive domain 1B"	JARID1B		11483573, 11478881	Standard	NM_006618		Approved	RBBP2H1A, PLU-1, CT31, PPP1R98	uc001gyf.3	Q9UGL1	OTTHUMG00000041401	ENST00000367265.3:c.4601G>A	1.37:g.202698198C>T	ENSP00000356234:p.Arg1534His					KDM5B_ENST00000367264.2_Missense_Mutation_p.R1570H	p.R1534H	NM_006618.3	NP_006609.3	Q9UGL1	KDM5B_HUMAN			27	5765	-			1534					O95811|Q15752|Q9Y3Q5	Missense_Mutation	SNP	ENST00000367265.3	37	c.4601G>A	CCDS30974.1	.	.	.	.	.	.	.	.	.	.	C	13.62	2.291679	0.40594	.	.	ENSG00000117139	ENST00000367265;ENST00000538292;ENST00000367264	D;D	0.84944	-1.92;-1.92	5.85	5.85	0.93711	Zinc finger, PHD-finger (2);Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, PHD-type (1);Zinc finger, FYVE/PHD-type (1);	0.286833	0.42821	D	0.000656	T	0.78426	0.4281	L	0.33137	0.985	0.31325	N	0.685523	B;B	0.16396	0.017;0.017	B;B	0.12837	0.008;0.008	T	0.74830	-0.3531	10	0.38643	T	0.18	-10.0296	13.3804	0.60764	0.0:0.9284:0.0:0.0716	.	1570;1534	Q9UGL1-2;Q9UGL1	.;KDM5B_HUMAN	H	1534;1376;1570	ENSP00000356234:R1534H;ENSP00000356233:R1570H	ENSP00000356233:R1570H	R	-	2	0	KDM5B	200964821	1.000000	0.71417	1.000000	0.80357	1.000000	0.99986	2.552000	0.45828	2.768000	0.95171	0.655000	0.94253	CGC		0.473	KDM5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000099184.2	NM_006618		28	68	0	0	0	1	0	28	68					T	202698198	C	T	202698198	3	4	305	1	0	0	0	0	1	0	0	0	8134	768	27	1	37	1	KDM5B	1	202698198	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	1080180	202698198	46552423	103	14620											
LRRN2	10446	broad.mit.edu	37	chr1	204588019	204588019	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcacagcggatggggttgcCgtggagacctacctcctgca	7	8	14	12	2	1	1	1	0	0	1	2	3	2	2	4	4	4	2	4	4	1	2	rs149220897		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:204588019C>T	ENST00000367175.1	-	1	3314	c.1102G>A	c.(1102-1104)Ggc>Agc	p.G368S	LRRN2_ENST00000367177.3_Missense_Mutation_p.G368S|LRRN2_ENST00000367176.3_Missense_Mutation_p.G368S|RP11-430C7.4_ENST00000453895.1_RNA|LRRN2_ENST00000496057.1_5'Flank			O75325	LRRN2_HUMAN	leucine rich repeat neuronal 2	368					cell adhesion (GO:0007155)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|liver(1)|lung(22)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	38	all_cancers(21;0.0519)|Breast(84;0.112)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)			ATGGGGTTGCCGTGGAGACCT	0.637																																						ENST00000367175.1																			0				central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|liver(1)|lung(22)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	38						c.(1102-1104)Ggc>Agc		leucine rich repeat neuronal 2		C	SER/GLY,SER/GLY	1,4405	2.1+/-5.4	0,1,2202	69	70	69		1102,1102	4.8	1	1	dbSNP_134	69	0,8600		0,0,4300	no	missense,missense	LRRN2	NM_006338.2,NM_201630.1	56,56	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign,benign	368/714,368/714	204588019	1,13005	2203	4300	6503	SO:0001583	missense	10446				cell adhesion	integral to membrane	receptor activity	g.chr1:204588019C>T	AF030435	CCDS1448.1	1q32.1	2013-01-11	2007-01-31	2007-01-31	ENSG00000170382	ENSG00000170382		"Immunoglobulin superfamily / I-set domain containing"	16914	protein-coding gene	gene with protein product	"leucine rich and ankyrin repeats 1", "fibronectin type III, immunoglobulin and leucine rich repeat domain 7"	605492	"leucine rich repeat neuronal 5"	LRRN5		9662332	Standard	NM_006338		Approved	GAC1, LRANK1, FIGLER7	uc001hbf.1	O75325	OTTHUMG00000035989	ENST00000367175.1:c.1102G>A	1.37:g.204588019C>T	ENSP00000356143:p.Gly368Ser					LRRN2_ENST00000367176.3_Missense_Mutation_p.G368S|LRRN2_ENST00000367177.3_Missense_Mutation_p.G368S	p.G368S			O75325	LRRN2_HUMAN	KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)		1	3314	-	all_cancers(21;0.0519)|Breast(84;0.112)|Prostate(682;0.19)		368					B2R624|Q5T0Y0|Q6UXM0|Q8N182	Missense_Mutation	SNP	ENST00000367175.1	37	c.1102G>A	CCDS1448.1	.	.	.	.	.	.	.	.	.	.	C	3.266	-0.150231	0.06585	2.27E-4	0.0	ENSG00000170382	ENST00000367176;ENST00000367177;ENST00000367175	T;T;T	0.58652	0.32;0.32;0.32	5.69	4.78	0.61160	.	0.000000	0.44097	D	0.000496	T	0.32734	0.0839	N	0.17278	0.47	0.38758	D	0.954255	B	0.30634	0.288	B	0.30316	0.114	T	0.28554	-1.0040	10	0.02654	T	1	.	7.17	0.25712	0.0:0.7138:0.0:0.2862	.	368	O75325	LRRN2_HUMAN	S	368	ENSP00000356144:G368S;ENSP00000356145:G368S;ENSP00000356143:G368S	ENSP00000356143:G368S	G	-	1	0	LRRN2	202854642	1.000000	0.71417	0.997000	0.53966	0.998000	0.95712	2.155000	0.42301	1.410000	0.46936	0.563000	0.77884	GGC		0.637	LRRN2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089894.1	NM_006338		27	65	0	0	0	1	0	27	65					T	204588019	C	T	204588019	3	4	305	1	0	0	0	0	1	0	0	0	9035	652	23	2	1043	2	LRRN2	1	204588019	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	1889821	204588019	44662602	104	14621											
TMCC2	9911	broad.mit.edu	37	chr1	205210851	205210851	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atgtccctgcacgacctgccCgcccggcccaccgccttcaa	6	6	8	21	4	1	0	1	0	0	0	2	1	2	0	7	1	2	1	7	1	1	1	rs140397839		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:205210851C>T	ENST00000358024.3	+	2	815	c.426C>T	c.(424-426)ccC>ccT	p.P142P	TMCC2_ENST00000495538.1_3'UTR|TMCC2_ENST00000545499.1_Silent_p.P64P	NM_014858.3	NP_055673.2	O75069	TMCC2_HUMAN	transmembrane and coiled-coil domain family 2	142						integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(3)|pancreas(1)|skin(1)|urinary_tract(1)	20	Breast(84;0.0871)		BRCA - Breast invasive adenocarcinoma(75;0.117)			ACGACCTGCCCGCCCGGCCCA	0.682													C|||	1	0.000199681	0	0	5008	,	,		15421	0		0	False		,,,				2504	0.001					ENST00000358024.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(3)|pancreas(1)|skin(1)|urinary_tract(1)	20						c.(424-426)ccC>ccT		transmembrane and coiled-coil domain family 2		C	,	0,4404		0,0,2202	52	44	47		192,426	-2.5	0.9	1	dbSNP_134	47	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	TMCC2	NM_001242925.1,NM_014858.3	,	0,1,6501	TT,TC,CC		0.0116,0.0,0.0077	,	64/632,142/710	205210851	1,13003	2202	4300	6502	SO:0001819	synonymous_variant	9911					integral to membrane	protein binding	g.chr1:205210851C>T	AB001596	CCDS30984.1, CCDS55676.1, CCDS73010.1	1q32.1	2008-02-05	2005-07-13		ENSG00000133069	ENSG00000133069		"Transmembrane and coiled-coil domain containing"	24239	protein-coding gene	gene with protein product			"transmembrane and coiled-coil domains 2"			9455484	Standard	NM_014858		Approved	HUCEP11, FLJ38497	uc021pia.1	O75069	OTTHUMG00000037195	ENST00000358024.3:c.426C>T	1.37:g.205210851C>T						TMCC2_ENST00000545499.1_Silent_p.P64P|TMCC2_ENST00000495538.1_3'UTR	p.P142P	NM_014858.3	NP_055673.2	O75069	TMCC2_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.117)		2	815	+	Breast(84;0.0871)		142					A2RRH3|B7Z1P7|Q6ZN09	Silent	SNP	ENST00000358024.3	37	c.426C>T	CCDS30984.1																																																																																				0.682	TMCC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000090383.1	NM_014858		9	34	0	0	0	1	0	9	34					T	205210851	C	T	205210851	2	4	305	1	0	0	0	0	0	0	0	1	15990	639	23	2		2	TMCC2	1	205210851	Silent	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	622832	205210851	44039770	105	14622											
CDK18	5129	broad.mit.edu	37	chr1	205498652	205498652	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcgccttctccttgcaggttGgatacggatggcatccacct	6	11	11	13	2	1	0	0	0	1	0	3	2	2	2	4	4	2	3	4	4	1	4			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:205498652G>A	ENST00000360066.2	+	13	1483	c.1182G>A	c.(1180-1182)ttG>ttA	p.L394L	CDK18_ENST00000506784.1_Silent_p.L424L|CDK18_ENST00000509056.1_3'UTR|CDK18_ENST00000429964.2_Silent_p.L394L	NM_002596.3|NM_212502.2|NM_212503.2	NP_002587.2|NP_997667.1|NP_997668.1	Q07002	CDK18_HUMAN	cyclin-dependent kinase 18	392	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.						ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)	p.L394L(1)|p.L424L(1)		breast(2)|endometrium(2)|large_intestine(2)|lung(10)|stomach(2)|urinary_tract(1)	19						CTTGCAGGTTGGATACGGATG	0.697											OREG0014157	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									Pancreas(180;489 2072 28461 40831 44265)	ENST00000360066.2																			2	Substitution - coding silent(2)	p.L394L(1)|p.L424L(1)	large_intestine(2)	breast(2)|endometrium(2)|large_intestine(2)|lung(10)|stomach(2)|urinary_tract(1)	19						c.(1180-1182)ttG>ttA		cyclin-dependent kinase 18							53	50	51					1																	205498652		2203	4300	6503	SO:0001819	synonymous_variant	5129						ATP binding|cyclin-dependent protein kinase activity|protein binding|signal transducer activity	g.chr1:205498652G>A	X66362	CCDS1454.1, CCDS44300.1	1q31-q32	2011-11-08	2009-12-16	2009-12-16	ENSG00000117266	ENSG00000117266		"Cyclin-dependent kinases"	8751	protein-coding gene	gene with protein product		169190	"PCTAIRE protein kinase 3"	PCTK3		1437147, 19884882	Standard	NM_002596		Approved	PCTAIRE3	uc010pri.2	Q07002	OTTHUMG00000037203	ENST00000360066.2:c.1182G>A	1.37:g.205498652G>A			OREG0014157	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	2152	CDK18_ENST00000509056.1_3'UTR|CDK18_ENST00000506784.1_Silent_p.L424L|CDK18_ENST00000429964.2_Silent_p.L394L	p.L394L	NM_002596.3|NM_212502.2|NM_212503.2	NP_002587.2|NP_997667.1|NP_997668.1	Q07002	CDK18_HUMAN			13	1483	+			392			Protein kinase.		Q5VXQ2|Q6V3A2|Q6V3A3|Q96F90	Silent	SNP	ENST00000360066.2	37	c.1182G>A	CCDS44300.1																																																																																				0.697	CDK18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090407.2	NM_002596		6	86	0	0	0	1	0	6	86					A	205498652	G	A	205498652	2	1	305	1	0	0	0	0	0	0	0	1	3134	1339	47	3		3	CDK18	1	205498652	Silent	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	287801	205498652	43751969	106	14623											
RASSF5	83593	broad.mit.edu	37	chr1	206757996	206757996	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaagtttgcactttttaagcGgatacacaaggacggacaag	14	9	11	7	2	0	0	0	0	0	0	0	4	0	3	0	3	3	2	0	3	5	5	rs570039354		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:206757996G>A	ENST00000355294.4	+	4	1025	c.968G>A	c.(967-969)cGg>cAg	p.R323Q	RASSF5_ENST00000304534.8_Missense_Mutation_p.R170Q|RASSF5_ENST00000367117.3_Missense_Mutation_p.R323Q|EIF2D_ENST00000472709.2_Intron|RASSF5_ENST00000491368.1_3'UTR	NM_182663.2	NP_872604.1	Q8WWW0	RASF5_HUMAN	Ras association (RalGDS/AF-6) domain family member 5	323	Ras-associating. {ECO:0000255|PROSITE- ProRule:PRU00166}.				apoptotic process (GO:0006915)|intracellular signal transduction (GO:0035556)|negative regulation of cell proliferation (GO:0008285)|positive regulation of protein ubiquitination (GO:0031398)|regulation of protein localization to nucleus (GO:1900180)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)	8	Breast(84;0.183)		BRCA - Breast invasive adenocarcinoma(75;0.166)			CTTTTTAAGCGGATACACAAG	0.537													G|||	1	0.000199681	0	0	5008	,	,		20853	0		0	False		,,,				2504	0.001				GBM(162;656 1984 11916 22872 31529)	ENST00000304534.8																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)	8						c.(508-510)cGg>cAg		Ras association (RalGDS/AF-6) domain family member 5							100	92	95					1																	206757996		2203	4300	6503	SO:0001583	missense	83593				apoptosis|intracellular signal transduction	cytoplasm|microtubule	metal ion binding|protein binding	g.chr1:206757996G>A	BC004270	CCDS1463.1, CCDS1464.1, CCDS30998.1	1q31	2014-04-10	2008-02-22		ENSG00000136653	ENSG00000266094			17609	protein-coding gene	gene with protein product		607020				11978988, 11965544	Standard	NM_182663		Approved	Maxp1, NORE1, RAPL	uc001hed.3	Q8WWW0	OTTHUMG00000184616	ENST00000355294.4:c.968G>A	1.37:g.206757996G>A	ENSP00000347443:p.Arg323Gln					RASSF5_ENST00000338603.2_Missense_Mutation_p.R323Q|RASSF5_ENST00000491368.1_3'UTR|EIF2D_ENST00000472709.2_Intron|RASSF5_ENST00000355294.4_Missense_Mutation_p.R323Q|RASSF5_ENST00000367117.3_Missense_Mutation_p.R323Q	p.R170Q	NM_182665.2	NP_872606.1	Q8WWW0	RASF5_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.166)		3	918	+	Breast(84;0.183)		323					A8K1E6|Q5SY32|Q8WWV9|Q8WXF4|Q9BT99	Missense_Mutation	SNP	ENST00000355294.4	37	c.509G>A	CCDS30998.1	.	.	.	.	.	.	.	.	.	.	G	15.60	2.881865	0.51908	.	.	ENSG00000136653	ENST00000355294;ENST00000367117;ENST00000338603;ENST00000367118;ENST00000304534	T;T;T;T	0.29397	1.57;1.57;1.57;1.57	5.36	2.49	0.30216	Ras-association (3);	0.381500	0.29653	N	0.011550	T	0.27098	0.0664	L	0.59436	1.845	0.80722	D	1	B;B;B;B;B	0.21821	0.061;0.0;0.005;0.014;0.017	B;B;B;B;B	0.23419	0.037;0.001;0.001;0.046;0.009	T	0.08330	-1.0727	10	0.52906	T	0.07	-3.5408	6.0411	0.19734	0.446:0.0:0.554:0.0	.	321;170;323;323;325	E9PDW5;Q8WWW0-2;Q8WWW0-3;Q8WWW0;Q59GG4	.;.;.;RASF5_HUMAN;.	Q	323;323;323;323;170	ENSP00000347443:R323Q;ENSP00000356084:R323Q;ENSP00000342620:R323Q;ENSP00000306091:R170Q	ENSP00000306091:R170Q	R	+	2	0	RASSF5	204824619	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	1.636000	0.37144	0.649000	0.30751	0.561000	0.74099	CGG		0.537	RASSF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088469.1	NM_031437		16	57	0	0	0	1	0	16	57					A	206757996	G	A	206757996	3	1	305	1	0	0	0	0	1	0	0	0	13089	1116	39	2	1106	2	RASSF5	1	206757996	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	1259344	206757996	42492625	107	14624											
PROX1	5629	broad.mit.edu	37	chr1	214170044	214170044	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gttctgagcaggatgttgagTattcagtggtgcagcatgca	9	12	14	6	0	2	2	1	2	1	0	2	3	2	3	0	2	4	7	0	2	1	4			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:214170044T>C	ENST00000366958.4	+	2	774	c.166T>C	c.(166-168)Tat>Cat	p.Y56H	PROX1_ENST00000498508.2_Missense_Mutation_p.Y56H|PROX1_ENST00000261454.4_Missense_Mutation_p.Y56H|PROX1_ENST00000435016.1_Missense_Mutation_p.Y56H	NM_001270616.1	NP_001257545.1	Q92786	PROX1_HUMAN	prospero homeobox 1	56					aorta smooth muscle tissue morphogenesis (GO:0060414)|atrial cardiac muscle tissue morphogenesis (GO:0055009)|brain development (GO:0007420)|cell fate determination (GO:0001709)|cerebellar granule cell differentiation (GO:0021707)|dentate gyrus development (GO:0021542)|dorsal spinal cord development (GO:0021516)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|endocardium formation (GO:0060214)|hepatocyte cell migration (GO:0002194)|hepatocyte differentiation (GO:0070365)|hepatocyte proliferation (GO:0072574)|kidney development (GO:0001822)|lens development in camera-type eye (GO:0002088)|lens fiber cell morphogenesis (GO:0070309)|liver development (GO:0001889)|lung development (GO:0030324)|lymphangiogenesis (GO:0001946)|lymphatic endothelial cell differentiation (GO:0060836)|negative regulation of bile acid biosynthetic process (GO:0070858)|negative regulation of cell proliferation (GO:0008285)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of viral genome replication (GO:0045071)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|olfactory placode formation (GO:0030910)|optic placode formation involved in camera-type eye formation (GO:0046619)|otic placode formation (GO:0043049)|pancreas development (GO:0031016)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell cycle checkpoint (GO:1901978)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045737)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of forebrain neuron differentiation (GO:2000979)|positive regulation of heart growth (GO:0060421)|positive regulation of neural precursor cell proliferation (GO:2000179)|positive regulation of sarcomere organization (GO:0060298)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of circadian rhythm (GO:0042752)|regulation of gene expression (GO:0010468)|regulation of transcription involved in lymphatic endothelial cell fate commitment (GO:0060849)|response to nutrient levels (GO:0031667)|retina morphogenesis in camera-type eye (GO:0060042)|skeletal muscle thin filament assembly (GO:0030240)|venous blood vessel morphogenesis (GO:0048845)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|ventricular cardiac myofibril assembly (GO:0055005)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|DBD domain binding (GO:0050692)|DNA binding (GO:0003677)|LBD domain binding (GO:0050693)|ligand-dependent nuclear receptor binding (GO:0016922)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|prostate(2)|skin(4)	47				OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219)		GGATGTTGAGTATTCAGTGGT	0.478																																						ENST00000366958.4																			0				autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|prostate(2)|skin(4)	47						c.(166-168)Tat>Cat		prospero homeobox 1							109	101	104					1																	214170044		2203	4300	6503	SO:0001583	missense	5629				aorta smooth muscle tissue morphogenesis|atrial cardiac muscle tissue morphogenesis|brain development|dorsal spinal cord development|embryonic retina morphogenesis in camera-type eye|endocardium formation|hepatocyte differentiation|kidney development|lens fiber cell morphogenesis|lung development|lymphangiogenesis|negative regulation of bile acid biosynthetic process|negative regulation of cell proliferation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of viral genome replication|neural tube development|olfactory placode formation|optic placode formation involved in camera-type eye formation|otic placode formation|pancreas development|positive regulation of cyclin-dependent protein kinase activity|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of heart growth|positive regulation of S phase of mitotic cell cycle|positive regulation of sarcomere organization|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment|skeletal muscle thin filament assembly|venous blood vessel morphogenesis|ventricular cardiac muscle tissue morphogenesis|ventricular cardiac myofibril development|ventricular septum morphogenesis	cytoplasm|nucleus	DBD domain binding|LBD domain binding|ligand-dependent nuclear receptor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding	g.chr1:214170044T>C	U44060	CCDS31021.1	1q41	2011-06-20	2007-06-01		ENSG00000117707	ENSG00000117707		"Homeoboxes / PROS class"	9459	protein-coding gene	gene with protein product		601546	"prospero-related homeobox 1"			8812486	Standard	NM_002763		Approved		uc001hkg.2	Q92786	OTTHUMG00000036946	ENST00000366958.4:c.166T>C	1.37:g.214170044T>C	ENSP00000355925:p.Tyr56His					PROX1_ENST00000498508.2_Missense_Mutation_p.Y56H|PROX1_ENST00000261454.4_Missense_Mutation_p.Y56H|PROX1_ENST00000435016.1_Missense_Mutation_p.Y56H	p.Y56H	NM_001270616.1	NP_001257545.1	Q92786	PROX1_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219)	2	774	+			56					A6NK29|A8K2B1|Q5SW76|Q8TB91	Missense_Mutation	SNP	ENST00000366958.4	37	c.166T>C	CCDS31021.1	.	.	.	.	.	.	.	.	.	.	T	15.26	2.781232	0.49891	.	.	ENSG00000117707	ENST00000471129;ENST00000498508;ENST00000366958;ENST00000435016;ENST00000261454	T;T;T;T	0.43688	0.94;0.94;0.94;0.94	5.77	5.77	0.91146	.	0.050834	0.85682	D	0.000000	T	0.37865	0.1019	N	0.08118	0	0.51482	D	0.999921	D	0.53885	0.963	P	0.55222	0.771	T	0.30822	-0.9965	10	0.26408	T	0.33	-3.3396	16.3948	0.83586	0.0:0.0:0.0:1.0	.	56	Q92786	PROX1_HUMAN	H	56	ENSP00000420283:Y56H;ENSP00000355925:Y56H;ENSP00000400694:Y56H;ENSP00000261454:Y56H	ENSP00000261454:Y56H	Y	+	1	0	PROX1	212236667	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.914000	0.69964	2.326000	0.78906	0.533000	0.62120	TAT		0.478	PROX1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089727.6	NM_002763		6	85	0	0	0	1	0	6	85					C	214170044	T	C	214170044	3	2	305	1	0	0	0	0	1	0	0	0	12560	1638	57	4	168	4	PROX1	1	214170044	Missense_Mutation	SNP	T	TCGA-KK-A59V-01A-11D-A29Q-08	7412048	214170044	35080577	108	14625											
PTPN14	5784	broad.mit.edu	37	chr1	214556938	214556938	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gctcacactcttccttggacCggggtactcaggcgggggct	5	9	14	13	2	3	0	2	0	1	0	4	1	4	1	2	6	1	3	2	6	1	3	rs184270548		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:214556938C>T	ENST00000366956.5	-	13	2454	c.2260G>A	c.(2260-2262)Ggt>Agt	p.G754S	PTPN14_ENST00000543945.1_3'UTR	NM_005401.4	NP_005392.2	Q15678	PTN14_HUMAN	protein tyrosine phosphatase, non-receptor type 14	754					lymphangiogenesis (GO:0001946)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of protein export from nucleus (GO:0046825)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	protein tyrosine phosphatase activity (GO:0004725)|receptor tyrosine kinase binding (GO:0030971)|transcription cofactor activity (GO:0003712)			NS(2)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(9)|liver(3)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	58				OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155)		TTCCTTGGACCGGGGTACTCA	0.667													C|||	1	0.000199681	8e-04	0	5008	,	,		16017	0		0	False		,,,				2504	0				Colon(92;557 1424 24372 34121 40073)	ENST00000366956.5																			0				NS(2)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(9)|liver(3)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						c.(2260-2262)Ggt>Agt		protein tyrosine phosphatase, non-receptor type 14							31	36	34					1																	214556938		2203	4299	6502	SO:0001583	missense	5784				lymphangiogenesis	cytoplasm|cytoskeleton	protein tyrosine phosphatase activity|receptor tyrosine kinase binding	g.chr1:214556938C>T	X82676	CCDS1514.1	1q32.2	2011-06-09			ENSG00000152104	ENSG00000152104		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"	9647	protein-coding gene	gene with protein product		603155				7733990	Standard	NM_005401		Approved	PEZ	uc001hkk.2	Q15678	OTTHUMG00000037039	ENST00000366956.5:c.2260G>A	1.37:g.214556938C>T	ENSP00000355923:p.Gly754Ser					PTPN14_ENST00000543945.1_3'UTR	p.G754S	NM_005401.4	NP_005392.2	Q15678	PTN14_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155)	13	2454	-			754					Q5VSI0	Missense_Mutation	SNP	ENST00000366956.5	37	c.2260G>A	CCDS1514.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	12.11	1.839515	0.32513	.	.	ENSG00000152104	ENST00000366956	T	0.67523	-0.27	5.6	4.69	0.59074	.	0.000000	0.85682	D	0.000000	T	0.76062	0.3935	L	0.53249	1.67	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.72347	-0.4321	10	0.20046	T	0.44	.	14.2334	0.65908	0.0:0.9284:0.0:0.0715	.	754	Q15678	PTN14_HUMAN	S	754	ENSP00000355923:G754S	ENSP00000355923:G754S	G	-	1	0	PTPN14	212623561	1.000000	0.71417	0.080000	0.20451	0.978000	0.69477	7.249000	0.78278	1.371000	0.46172	0.563000	0.77884	GGT		0.667	PTPN14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089918.2	NM_005401		5	94	0	0	0	1	0	5	94					T	214556938	C	T	214556938	3	4	305	1	0	0	0	0	1	0	0	0	12783	652	23	2	1331	2	PTPN14	1	214556938	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	386894	214556938	34693683	109	14626											
KCTD3	51133	broad.mit.edu	37	chr1	215793922	215793922	+	Frame_Shift_Del	DEL	A	A	-																															ctactccatctcctcggcatAaaaaaagtgattcttcaggt																										TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:215793922delA	ENST00000259154.4	+	18	2704	c.2410delA	c.(2410-2412)aaafs	p.K805fs	KCTD3_ENST00000495537.1_3'UTR	NM_016121.3	NP_057205.2	Q9Y597	KCTD3_HUMAN	potassium channel tetramerization domain containing 3	805					protein homooligomerization (GO:0051260)					breast(4)|endometrium(2)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(1)	33				all cancers(67;0.0164)|OV - Ovarian serous cystadenocarcinoma(81;0.019)|GBM - Glioblastoma multiforme(131;0.0862)|Epithelial(68;0.13)		TCCTCGGCATAAAAAAAGTGA	0.418																																						ENST00000259154.4																			0				breast(4)|endometrium(2)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(1)	33						c.(2410-2412)aafs		potassium channel tetramerization domain containing 3							88	89	88					1																	215793922		2203	4299	6502	SO:0001589	frameshift_variant	51133					voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity	g.chr1:215793922delA	AK024547	CCDS1515.1	1q41	2013-06-20	2013-06-20		ENSG00000136636	ENSG00000136636			21305	protein-coding gene	gene with protein product		613272	"potassium channel tetramerisation domain containing 3"			10508479	Standard	NM_016121		Approved	NY-REN-45	uc001hks.3	Q9Y597	OTTHUMG00000037019	ENST00000259154.4:c.2410delA	1.37:g.215793922delA	ENSP00000259154:p.Lys805fs					KCTD3_ENST00000495537.1_3'UTR	p.K805fs	NM_016121.3	NP_057205.2	Q9Y597	KCTD3_HUMAN		all cancers(67;0.0164)|OV - Ovarian serous cystadenocarcinoma(81;0.019)|GBM - Glioblastoma multiforme(131;0.0862)|Epithelial(68;0.13)	18	2704	+			805					A0AV15|D3DTA6|Q49AG7|Q504Q9|Q6PJN6|Q8ND58|Q8NDJ0|Q8WX16	Frame_Shift_Del	DEL	ENST00000259154.4	37	c.2410delA	CCDS1515.1																																																																																				0.418	KCTD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089871.2	NM_016121		21	74						21	74	---	---	---	---	-	215793922	A	-	215793922	7	5	305	1	0	1	0	1	0	0	0	0	8110	363	13	0	2480	0	KCTD3	1	215793922	Frame_Shift_Del	DEL	A	TCGA-KK-A59V-01A-11D-A29Q-08	1236984	215793922	33456699	110	14627											
USH2A	7399	broad.mit.edu	37	chr1	215848693	215848693	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atctgcgaatcacttcatagCgaattatttttccatttggg	10	16	7	8	2	3	0	2	0	1	0	4	2	4	0	1	1	2	0	1	1	4	6	rs147304271		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:215848693C>T	ENST00000307340.3	-	63	12946	c.12560G>A	c.(12559-12561)cGc>cAc	p.R4187H	USH2A_ENST00000366943.2_Missense_Mutation_p.R4187H	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	4187	Fibronectin type-III 27. {ECO:0000255|PROSITE-ProRule:PRU00316}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		CACTTCATAGCGAATTATTTT	0.468										HNSCC(13;0.011)																												ENST00000366943.2																			0				NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527						c.(12559-12561)cGc>cAc		Usher syndrome 2A (autosomal recessive, mild)		C	HIS/ARG	0,4406		0,0,2203	104	105	105		12560	3	1	1	dbSNP_134	105	2,8598	2.2+/-6.3	0,2,4298	no	missense	USH2A	NM_206933.2	29	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	benign	4187/5203	215848693	2,13004	2203	4300	6503	SO:0001583	missense	7399				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	g.chr1:215848693C>T	AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"Fibronectin type III domain containing"	12601	protein-coding gene	gene with protein product	"usherin"	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.12560G>A	1.37:g.215848693C>T	ENSP00000305941:p.Arg4187His	HNSCC(13;0.011)				USH2A_ENST00000307340.3_Missense_Mutation_p.R4187H	p.R4187H			O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	63	12946	-			4187			Fibronectin type-III 27.		Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	c.12560G>A	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	C	13.55	2.271439	0.40194	0.0	2.33E-4	ENSG00000042781	ENST00000307340;ENST00000366943	T;T	0.57595	0.39;0.39	5.25	2.97	0.34412	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.322240	0.22456	N	0.059838	T	0.35828	0.0945	L	0.28400	0.85	0.26011	N	0.981996	B	0.22211	0.066	B	0.17722	0.019	T	0.15350	-1.0440	10	0.15499	T	0.54	.	10.6408	0.45592	0.0:0.766:0.0:0.234	.	4187	O75445	USH2A_HUMAN	H	4187	ENSP00000305941:R4187H;ENSP00000355910:R4187H	ENSP00000305941:R4187H	R	-	2	0	USH2A	213915316	0.977000	0.34250	0.987000	0.45799	0.987000	0.75469	0.246000	0.18160	1.183000	0.42943	0.650000	0.86243	CGC		0.468	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		4	112	0	0	0	1	0	4	112					T	215848693	C	T	215848693	3	4	305	1	0	0	0	0	1	0	0	0	17033	768	27	1	3088	1	USH2A	1	215848693	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	54771	215848693	33401928	111	14628											
TGFB2	7042	broad.mit.edu	37	chr1	218614599	218614599	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcatctgcttctccttgctgCgtgtcccaagatttagaacc	7	13	8	13	1	2	2	0	0	2	2	4	2	3	2	3	0	4	3	3	0	3	4	rs201129153		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:218614599C>T	ENST00000366930.4	+	7	1607	c.1140C>T	c.(1138-1140)tgC>tgT	p.C380C	TGFB2_ENST00000366929.4_Silent_p.C408C|TGFB2_ENST00000479322.1_3'UTR	NM_003238.3	NP_003229.1	P61812	TGFB2_HUMAN	transforming growth factor, beta 2	380					activation of protein kinase activity (GO:0032147)|angiogenesis (GO:0001525)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|blood vessel remodeling (GO:0001974)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac muscle cell proliferation (GO:0060038)|cardioblast differentiation (GO:0010002)|cartilage condensation (GO:0001502)|catagen (GO:0042637)|cell cycle arrest (GO:0007050)|cell death (GO:0008219)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell morphogenesis (GO:0000902)|cell proliferation (GO:0008283)|cell-cell junction organization (GO:0045216)|cell-cell signaling (GO:0007267)|collagen fibril organization (GO:0030199)|dopamine biosynthetic process (GO:0042416)|embryo development (GO:0009790)|embryonic digestive tract development (GO:0048566)|epithelial to mesenchymal transition (GO:0001837)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway (GO:0097191)|eye development (GO:0001654)|face morphogenesis (GO:0060325)|generation of neurons (GO:0048699)|glial cell migration (GO:0008347)|hair follicle development (GO:0001942)|hair follicle morphogenesis (GO:0031069)|heart development (GO:0007507)|heart morphogenesis (GO:0003007)|hemopoiesis (GO:0030097)|menstrual cycle phase (GO:0022601)|negative regulation of alkaline phosphatase activity (GO:0010693)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of immune response (GO:0050777)|negative regulation of macrophage cytokine production (GO:0010936)|neuron development (GO:0048666)|neuron fate commitment (GO:0048663)|neutrophil chemotaxis (GO:0030593)|odontogenesis (GO:0042476)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of activation-induced cell death of T cells (GO:0070237)|positive regulation of cardioblast differentiation (GO:0051891)|positive regulation of catagen (GO:0051795)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell division (GO:0051781)|positive regulation of cell growth (GO:0030307)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of gene expression (GO:0010628)|positive regulation of heart contraction (GO:0045823)|positive regulation of immune response (GO:0050778)|positive regulation of integrin biosynthetic process (GO:0045726)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of ossification (GO:0045778)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein secretion (GO:0050714)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein phosphorylation (GO:0006468)|regulation of transforming growth factor beta2 production (GO:0032909)|response to drug (GO:0042493)|response to hypoxia (GO:0001666)|response to progesterone (GO:0032570)|response to wounding (GO:0009611)|salivary gland morphogenesis (GO:0007435)|signal transduction by phosphorylation (GO:0023014)|SMAD protein import into nucleus (GO:0007184)|somatic stem cell division (GO:0048103)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	axon (GO:0030424)|endosome (GO:0005768)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|neuronal cell body (GO:0043025)|platelet alpha granule lumen (GO:0031093)	beta-amyloid binding (GO:0001540)|cytokine activity (GO:0005125)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|transforming growth factor beta receptor binding (GO:0005160)|type II transforming growth factor beta receptor binding (GO:0005114)	p.C408C(1)|p.C380C(1)		breast(1)|endometrium(1)|large_intestine(11)|lung(15)|upper_aerodigestive_tract(2)|urinary_tract(1)	31				all cancers(67;0.0459)|OV - Ovarian serous cystadenocarcinoma(81;0.049)|GBM - Glioblastoma multiforme(131;0.0776)		CTCCTTGCTGCGTGTCCCAAG	0.408													C|||	1	0.000199681	0	0.0014	5008	,	,		18880	0		0	False		,,,				2504	0					ENST00000366929.4																			2	Substitution - coding silent(2)	p.C408C(1)|p.C380C(1)	endometrium(2)	breast(1)|endometrium(1)|large_intestine(11)|lung(15)|upper_aerodigestive_tract(2)|urinary_tract(1)	31						c.(1222-1224)tgC>tgT		transforming growth factor, beta 2		C	,	1,4405	2.1+/-5.4	0,1,2202	123	123	123		1224,1140	-7.3	0.8	1		123	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous,coding-synonymous	TGFB2	NM_001135599.2,NM_003238.3	,	0,3,6500	TT,TC,CC		0.0233,0.0227,0.0231	,	408/443,380/415	218614599	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	7042				activation of protein kinase activity|angiogenesis|cardiac epithelial to mesenchymal transition|cardiac muscle cell proliferation|cardioblast differentiation|catagen|cell cycle arrest|cell death|cell growth|cell-cell junction organization|cell-cell signaling|collagen fibril organization|dopamine biosynthetic process|embryonic digestive tract development|eye development|glial cell migration|hair follicle morphogenesis|hemopoiesis|menstrual cycle phase|negative regulation of alkaline phosphatase activity|negative regulation of cell growth|negative regulation of epithelial cell proliferation|negative regulation of immune response|negative regulation of macrophage cytokine production|neuron development|neutrophil chemotaxis|odontogenesis|pathway-restricted SMAD protein phosphorylation|platelet activation|platelet degranulation|positive regulation of cardioblast differentiation|positive regulation of catagen|positive regulation of cell adhesion mediated by integrin|positive regulation of cell cycle|positive regulation of cell division|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of epithelial cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of heart contraction|positive regulation of immune response|positive regulation of integrin biosynthetic process|positive regulation of neuron apoptosis|positive regulation of ossification|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein secretion|positive regulation of stress-activated MAPK cascade|regulation of transforming growth factor-beta2 production|response to hypoxia|response to progesterone stimulus|salivary gland morphogenesis|SMAD protein import into nucleus|somatic stem cell division|transforming growth factor beta receptor signaling pathway	axon|extracellular matrix|extracellular space|neuronal cell body|platelet alpha granule lumen	beta-amyloid binding|cytokine activity|growth factor activity|protein heterodimerization activity|protein homodimerization activity|receptor signaling protein serine/threonine kinase activity|type II transforming growth factor beta receptor binding	g.chr1:218614599C>T	M19154	CCDS1521.1, CCDS44318.1	1q41	2014-01-30			ENSG00000092969	ENSG00000092969		"Endogenous ligands"	11768	protein-coding gene	gene with protein product	"prepro-transforming growth factor beta-2"	190220					Standard	NM_003238		Approved		uc001hln.3	P61812	OTTHUMG00000039521	ENST00000366930.4:c.1140C>T	1.37:g.218614599C>T						TGFB2_ENST00000479322.1_3'UTR|TGFB2_ENST00000366930.4_Silent_p.C380C	p.C408C	NM_001135599.2	NP_001129071.1	P61812	TGFB2_HUMAN		all cancers(67;0.0459)|OV - Ovarian serous cystadenocarcinoma(81;0.049)|GBM - Glioblastoma multiforme(131;0.0776)	8	1691	+			380					B4DKC5|P08112|Q15579|Q15581|Q4VAV9	Silent	SNP	ENST00000366930.4	37	c.1224C>T	CCDS1521.1																																																																																				0.408	TGFB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095359.2	NM_003238		4	125	0	0	0	1	0	4	125					T	218614599	C	T	218614599	2	4	305	1	0	0	0	0	0	0	0	1	15815	776	27	1		1	TGFB2	1	218614599	Silent	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	2765906	218614599	30636022	112	14629											
RAB3GAP2	25782	broad.mit.edu	37	chr1	220340962	220340962	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcattagccagttttaatacTtcagggctgaagtcctgttt	9	16	8	8	0	2	1	2	1	0	0	3	1	3	1	2	1	2	3	2	1	4	6			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:220340962T>G	ENST00000358951.2	-	25	2978	c.2862A>C	c.(2860-2862)gaA>gaC	p.E954D		NM_012414.3	NP_036546.2	Q9H2M9	RBGPR_HUMAN	RAB3 GTPase activating protein subunit 2 (non-catalytic)	954					establishment of protein localization to endoplasmic reticulum membrane (GO:0097051)|intracellular protein transport (GO:0006886)|positive regulation of catalytic activity (GO:0043085)|positive regulation of endoplasmic reticulum tubular network organization (GO:1903373)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Rab GTPase activity (GO:0032851)|regulation of GTPase activity (GO:0043087)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	enzyme activator activity (GO:0008047)|enzyme regulator activity (GO:0030234)|GTPase activator activity (GO:0005096)|protein heterodimerization activity (GO:0046982)|Rab GTPase binding (GO:0017137)			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(1)	39				GBM - Glioblastoma multiforme(131;0.0443)		GTTTTAATACTTCAGGGCTGA	0.388																																						ENST00000358951.2																			0				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(1)	39						c.(2860-2862)gaA>gaC		RAB3 GTPase activating protein subunit 2 (non-catalytic)							180	188	186					1																	220340962		2203	4300	6503	SO:0001583	missense	25782				intracellular protein transport	cytoplasm|soluble fraction	GTPase activator activity|protein heterodimerization activity	g.chr1:220340962T>G	AB020646	CCDS31028.1	1q41	2014-03-03			ENSG00000118873	ENSG00000118873			17168	protein-coding gene	gene with protein product		609275				15696165, 16532399, 24482476	Standard	NM_012414		Approved	RAB3-GAP150, KIAA0839, DKFZP434D245, SPG69	uc010puk.1	Q9H2M9	OTTHUMG00000037139	ENST00000358951.2:c.2862A>C	1.37:g.220340962T>G	ENSP00000351832:p.Glu954Asp						p.E954D	NM_012414.3	NP_036546.2	Q9H2M9	RBGPR_HUMAN		GBM - Glioblastoma multiforme(131;0.0443)	25	2978	-			954					A6H8V0|O75872|Q9HAB0|Q9UFJ7|Q9UQ15	Missense_Mutation	SNP	ENST00000358951.2	37	c.2862A>C	CCDS31028.1	.	.	.	.	.	.	.	.	.	.	T	9.621	1.133772	0.21123	.	.	ENSG00000118873	ENST00000358951	T	0.32988	1.43	5.72	0.0259	0.14147	.	0.779805	0.12446	N	0.468179	T	0.09555	0.0235	N	0.03608	-0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.30966	-0.9960	10	0.13853	T	0.58	.	1.6641	0.02798	0.3464:0.0815:0.3102:0.262	.	954	Q9H2M9	RBGPR_HUMAN	D	954	ENSP00000351832:E954D	ENSP00000351832:E954D	E	-	3	2	RAB3GAP2	218407585	0.000000	0.05858	0.083000	0.20561	0.964000	0.63967	-1.752000	0.01819	0.061000	0.16311	0.528000	0.53228	GAA		0.388	RAB3GAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090205.2	NM_012414		58	140	0	0	0	1	0	58	140					G	220340962	T	G	220340962	3	3	305	1	0	0	0	0	1	0	0	0	12936	1606	56	5	1363	5	RAB3GAP2	1	220340962	Missense_Mutation	SNP	T	TCGA-KK-A59V-01A-11D-A29Q-08	1726363	220340962	28909659	113	14630											
HLX	3142	broad.mit.edu	37	chr1	221057685	221057685	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggacgagaggagccccagccGttctgaaggcgaggctgaga	10	4	17	10	3	1	3	0	2	1	2	1	8	1	5	3	4	2	2	3	4	1	1			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:221057685G>A	ENST00000366903.6	+	4	2607	c.1106G>A	c.(1105-1107)cGt>cAt	p.R369H	HLX_ENST00000549319.1_Missense_Mutation_p.R155H	NM_021958.3	NP_068777.1	Q14774	HLX_HUMAN	H2.0-like homeobox	369	Ser-rich.				cell differentiation (GO:0030154)|embryonic digestive tract morphogenesis (GO:0048557)|enteric nervous system development (GO:0048484)|liver development (GO:0001889)|multicellular organismal development (GO:0007275)|negative regulation of T-helper 2 cell differentiation (GO:0045629)|positive regulation of cell proliferation (GO:0008284)|positive regulation of organ growth (GO:0046622)|positive regulation of T-helper 1 cell differentiation (GO:0045627)|regulation of transcription, DNA-templated (GO:0006355)|skeletal muscle tissue development (GO:0007519)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(9)|lung(11)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	32				GBM - Glioblastoma multiforme(131;0.00914)		AGCCCCAGCCGTTCTGAAGGC	0.667																																						ENST00000366903.6																			0				breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(9)|lung(11)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(1105-1107)cGt>cAt		H2.0-like homeobox							40	40	40					1																	221057685		2203	4300	6503	SO:0001583	missense	3142				cell differentiation	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr1:221057685G>A	BC033808	CCDS1527.1	1q41	2011-06-20	2007-07-26	2007-07-26	ENSG00000136630	ENSG00000136630		"Homeoboxes / ANTP class : NKL subclass"	4978	protein-coding gene	gene with protein product		142995	"H2.0 (Drosophila)-like homeo box 1", "H2.0-like homeobox 1 (Drosophila)", "H2.0-like homeobox 1"	HLX1		1676597, 7806220	Standard	NM_021958		Approved	HB24	uc001hmv.4	Q14774	OTTHUMG00000037352	ENST00000366903.6:c.1106G>A	1.37:g.221057685G>A	ENSP00000355870:p.Arg369His					HLX_ENST00000549319.1_Missense_Mutation_p.R155H	p.R369H	NM_021958.3	NP_068777.1	Q14774	HLX_HUMAN		GBM - Glioblastoma multiforme(131;0.00914)	4	2607	+			369			Ser-rich.		B2R8A8|Q15988|Q59HE7|Q9NZ75	Missense_Mutation	SNP	ENST00000366903.6	37	c.1106G>A	CCDS1527.1	.	.	.	.	.	.	.	.	.	.	G	25.4	4.632590	0.87660	.	.	ENSG00000136630	ENST00000366903;ENST00000427693;ENST00000549319	T;T;T	0.54279	1.3;0.58;3.28	4.97	4.05	0.47172	.	0.112915	0.35970	N	0.002879	T	0.29355	0.0731	L	0.32530	0.975	0.35712	D	0.816493	P	0.47910	0.902	B	0.31101	0.124	T	0.34750	-0.9816	10	0.13108	T	0.6	-25.9056	8.3496	0.32295	0.0856:0.1565:0.7578:0.0	.	369	Q14774	HLX_HUMAN	H	369;102;155	ENSP00000355870:R369H;ENSP00000408248:R102H;ENSP00000449882:R155H	ENSP00000355870:R369H	R	+	2	0	HLX	219124308	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	3.548000	0.53670	1.230000	0.43646	0.561000	0.74099	CGT		0.667	HLX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090902.3	NM_021958		14	33	0	0	0	1	0	14	33					A	221057685	G	A	221057685	3	1	305	1	0	0	0	0	1	0	0	0	7216	1145	40	1	1120	1	HLX	1	221057685	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	716723	221057685	28192936	114	14631											
DISP1	84976	broad.mit.edu	37	chr1	223178967	223178967	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcaaaacgtgttgcgaccccGagaataaacaaagggaactc	16	6	9	10	3	1	1	1	0	0	1	2	4	1	2	2	1	4	1	2	1	7	2	rs148545972	byFrequency	TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:223178967G>A	ENST00000284476.6	+	8	4392	c.4228G>A	c.(4228-4230)Gag>Aag	p.E1410K		NM_032890.3	NP_116279.2	Q96F81	DISP1_HUMAN	dispatched homolog 1 (Drosophila)	1410					determination of left/right symmetry (GO:0007368)|diaphragm development (GO:0060539)|dorsal/ventral pattern formation (GO:0009953)|embryonic pattern specification (GO:0009880)|patched ligand maturation (GO:0007225)|peptide transport (GO:0015833)|protein homotrimerization (GO:0070207)|regulation of protein secretion (GO:0050708)|smoothened signaling pathway (GO:0007224)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)	hedgehog receptor activity (GO:0008158)|peptide transporter activity (GO:0015197)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(20)|lung(25)|prostate(4)|skin(1)|stomach(1)|urinary_tract(5)	69				GBM - Glioblastoma multiforme(131;0.102)		TTGCGACCCCGAGAATAAACA	0.478													G|||	2	0.000399361	0.0015	0	5008	,	,		20355	0		0	False		,,,				2504	0					ENST00000284476.6																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(20)|lung(25)|prostate(4)|skin(1)|stomach(1)|urinary_tract(5)	69						c.(4228-4230)Gag>Aag		dispatched homolog 1 (Drosophila)							72	74	74					1																	223178967		2203	4300	6503	SO:0001583	missense	84976				diaphragm development|protein homotrimerization|regulation of protein secretion|smoothened signaling pathway	basolateral plasma membrane|integral to membrane	hedgehog receptor activity|peptide transporter activity	g.chr1:223178967G>A	AK056569	CCDS1536.1	1q42.12	2008-02-05			ENSG00000154309	ENSG00000154309			19711	protein-coding gene	gene with protein product		607502				10619433	Standard	NM_032890		Approved	DISPA, MGC13130, DKFZP434I0428, MGC16796	uc001hnu.2	Q96F81	OTTHUMG00000037893	ENST00000284476.6:c.4228G>A	1.37:g.223178967G>A	ENSP00000284476:p.Glu1410Lys						p.E1410K	NM_032890.3	NP_116279.2	Q96F81	DISP1_HUMAN		GBM - Glioblastoma multiforme(131;0.102)	8	4392	+			1410					Q8N7C2|Q96I92|Q9H698|Q9H8H9|Q9UFA2	Missense_Mutation	SNP	ENST00000284476.6	37	c.4228G>A	CCDS1536.1	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	G	16.20	3.054996	0.55325	.	.	ENSG00000154309	ENST00000284476	D	0.92048	-2.96	5.95	3.99	0.46301	.	0.533336	0.20503	N	0.091044	D	0.86272	0.5893	L	0.32530	0.975	0.29975	N	0.818233	B	0.14438	0.01	B	0.04013	0.001	T	0.81378	-0.0960	10	0.46703	T	0.11	-9.3824	10.064	0.42292	0.0719:0.1367:0.7914:0.0	.	1410	Q96F81	DISP1_HUMAN	K	1410	ENSP00000284476:E1410K	ENSP00000284476:E1410K	E	+	1	0	DISP1	221245590	0.031000	0.19500	0.054000	0.19295	0.100000	0.18952	1.656000	0.37355	1.524000	0.49035	0.655000	0.94253	GAG		0.478	DISP1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092512.1	NM_032890		30	59	0	0	0	1	0	30	59					A	223178967	G	A	223178967	3	1	305	1	0	0	0	0	1	0	0	0	4539	1059	37	2	4254	2	DISP1	1	223178967	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	2121282	223178967	26071654	115	14632											
EPHX1	2052	broad.mit.edu	37	chr1	226027660	226027660	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgtggagctgctgtaccccGtcaaggagaaggtattctac	10	10	12	9	1	2	1	1	0	1	1	2	3	2	2	2	3	4	4	2	3	5	4	rs45449793	byFrequency	TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:226027660G>A	ENST00000366837.4	+	6	1049	c.853G>A	c.(853-855)Gtc>Atc	p.V285I	RP11-285F7.2_ENST00000424332.1_RNA|EPHX1_ENST00000272167.5_Missense_Mutation_p.V285I	NM_000120.3	NP_000111.1	P07099	HYEP_HUMAN	epoxide hydrolase 1, microsomal (xenobiotic)	285			V -> L (in dbSNP:rs45449793). {ECO:0000269|Ref.8}.		aromatic compound catabolic process (GO:0019439)|response to toxic substance (GO:0009636)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	cis-stilbene-oxide hydrolase activity (GO:0033961)|epoxide hydrolase activity (GO:0004301)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(7)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	28	Breast(184;0.197)					GCTGTACCCCGTCAAGGAGAA	0.557																																						ENST00000366837.4																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(7)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	28						c.(853-855)Gtc>Atc		epoxide hydrolase 1, microsomal (xenobiotic)							163	142	149					1																	226027660		2203	4300	6503	SO:0001583	missense	2052				aromatic compound catabolic process|response to toxin	endoplasmic reticulum membrane|integral to membrane|microsome	cis-stilbene-oxide hydrolase activity|epoxide hydrolase activity	g.chr1:226027660G>A	J03518	CCDS1547.1	1q42.1	2009-07-10			ENSG00000143819	ENSG00000143819	3.3.2.9		3401	protein-coding gene	gene with protein product		132810		EPHX		9925921	Standard	NM_000120		Approved		uc001hpk.3	P07099	OTTHUMG00000037743	ENST00000366837.4:c.853G>A	1.37:g.226027660G>A	ENSP00000355802:p.Val285Ile					EPHX1_ENST00000272167.5_Missense_Mutation_p.V285I	p.V285I	NM_000120.3	NP_000111.1	P07099	HYEP_HUMAN			6	1049	+	Breast(184;0.197)		285		V -> L (in dbSNP:rs45449793).			B2R8N0|Q5VTJ6|Q9NP75|Q9NPE7|Q9NQU6|Q9NQU7|Q9NQU8|Q9NQU9|Q9NQV0|Q9NQV1|Q9NQV2	Missense_Mutation	SNP	ENST00000366837.4	37	c.853G>A	CCDS1547.1	.	.	.	.	.	.	.	.	.	.	G	13.45	2.241910	0.39598	.	.	ENSG00000143819	ENST00000272167;ENST00000366837	T;T	0.61158	0.13;0.13	5.57	-3.54	0.04653	Alpha/beta hydrolase fold-1 (1);	0.646762	0.16256	N	0.222493	T	0.39886	0.1095	L	0.33485	1.01	0.09310	N	1	B	0.29270	0.24	B	0.26202	0.067	T	0.22382	-1.0218	10	0.24483	T	0.36	-23.8775	13.1536	0.59503	0.0:0.0614:0.5418:0.3969	.	285	P07099	HYEP_HUMAN	I	285	ENSP00000272167:V285I;ENSP00000355802:V285I	ENSP00000272167:V285I	V	+	1	0	EPHX1	224094283	0.764000	0.28473	0.000000	0.03702	0.113000	0.19764	0.588000	0.23924	-0.480000	0.06803	-0.362000	0.07510	GTC		0.557	EPHX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092064.1	NM_000120		41	80	0	0	0	1	0	41	80					A	226027660	G	A	226027660	3	1	305	1	0	0	0	0	1	0	0	0	5179	1145	40	1	871	1	EPHX1	1	226027660	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	2848693	226027660	23222961	116	14633											
ACBD3	64746	broad.mit.edu	37	chr1	226334447	226334447	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cctcctcatgacagtcccgtCggtacacaggcacaatctca	10	8	7	16	2	2	1	2	1	1	0	6	1	4	1	3	2	1	2	3	2	2	1			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:226334447C>T	ENST00000366812.5	-	8	1505	c.1451G>A	c.(1450-1452)cGa>cAa	p.R484Q	RP11-275I14.4_ENST00000440540.1_RNA	NM_022735.3	NP_073572.2	Q9H3P7	GCP60_HUMAN	acyl-CoA binding domain containing 3	484	GOLD. {ECO:0000255|PROSITE- ProRule:PRU00096}.				steroid biosynthetic process (GO:0006694)|transport (GO:0006810)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrion (GO:0005739)	fatty-acyl-CoA binding (GO:0000062)			breast(2)|endometrium(3)|large_intestine(5)|lung(7)|skin(1)|urinary_tract(2)	20	Breast(184;0.158)			GBM - Glioblastoma multiforme(131;0.121)		ACAGTCCCGTCGGTACACAGG	0.473																																						ENST00000366812.5																			0				breast(2)|endometrium(3)|large_intestine(5)|lung(7)|skin(1)|urinary_tract(2)	20						c.(1450-1452)cGa>cAa		acyl-CoA binding domain containing 3							185	153	164					1																	226334447		2203	4300	6503	SO:0001583	missense	64746				steroid biosynthetic process|transport	Golgi membrane|integral to membrane|mitochondrion	fatty-acyl-CoA binding|protein binding	g.chr1:226334447C>T	AB043587	CCDS1551.1	1q41	2013-10-16	2010-04-30	2003-11-12	ENSG00000182827	ENSG00000182827		"A-kinase anchor proteins"	15453	protein-coding gene	gene with protein product	"PBR- and PKA-associated protein 7"	606809	"golgi complex associated protein 1, 60kDa", "acyl-Coenzyme A binding domain containing 3"	GOLPH1, GOCAP1		12692076, 20150326	Standard	NM_022735		Approved	GCP60, PAP7	uc001hpy.3	Q9H3P7	OTTHUMG00000037560	ENST00000366812.5:c.1451G>A	1.37:g.226334447C>T	ENSP00000355777:p.Arg484Gln						p.R484Q	NM_022735.3	NP_073572.2	Q9H3P7	GCP60_HUMAN		GBM - Glioblastoma multiforme(131;0.121)	8	1505	-	Breast(184;0.158)		484			GOLD.		B2RB29|Q5VTJ0|Q6P9F1|Q8IZC5|Q8N4D6|Q9H6U3	Missense_Mutation	SNP	ENST00000366812.5	37	c.1451G>A	CCDS1551.1	.	.	.	.	.	.	.	.	.	.	C	35	5.457651	0.96240	.	.	ENSG00000182827	ENST00000366812	T	0.51325	0.71	5.74	4.83	0.62350	GOLD (2);	0.054102	0.64402	N	0.000001	T	0.76090	0.3939	M	0.93197	3.39	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.83196	-0.0081	10	0.87932	D	0	-7.8352	14.4906	0.67647	0.0:0.9299:0.0:0.0701	.	484	Q9H3P7	GCP60_HUMAN	Q	484	ENSP00000355777:R484Q	ENSP00000355777:R484Q	R	-	2	0	ACBD3	224401070	1.000000	0.71417	0.999000	0.59377	0.992000	0.81027	7.426000	0.80270	1.437000	0.47472	0.491000	0.48974	CGA		0.473	ACBD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091528.1	NM_022735		5	138	0	0	0	1	0	5	138					T	226334447	C	T	226334447	3	4	305	1	0	0	0	0	1	0	0	0	123	884	31	2	139	2	ACBD3	1	226334447	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	306787	226334447	22916174	117	14634											
WNT3A	89780	broad.mit.edu	37	chr1	228210434	228210434	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atcctgtgtgccagcatcccGggcctggtccccaagcagct	6	8	11	16	1	0	0	0	0	0	0	3	0	3	0	6	2	4	3	6	2	1	0			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:228210434G>A	ENST00000284523.1	+	2	216	c.138G>A	c.(136-138)ccG>ccA	p.P46P	WNT3A_ENST00000366753.2_Silent_p.P46P	NM_033131.3	NP_149122.1	P56704	WNT3A_HUMAN	wingless-type MMTV integration site family, member 3A	46					axis elongation involved in somitogenesis (GO:0090245)|axon guidance (GO:0007411)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in cardiac muscle cell fate commitment (GO:0061317)|cell proliferation in forebrain (GO:0021846)|cellular protein localization (GO:0034613)|cellular response to retinoic acid (GO:0071300)|COP9 signalosome assembly (GO:0010387)|dorsal/ventral neural tube patterning (GO:0021904)|extracellular matrix organization (GO:0030198)|heart looping (GO:0001947)|hemopoiesis (GO:0030097)|hippocampus development (GO:0021766)|in utero embryonic development (GO:0001701)|inner ear morphogenesis (GO:0042472)|mammary gland development (GO:0030879)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of heart induction by canonical Wnt signaling pathway (GO:0003136)|negative regulation of neurogenesis (GO:0050768)|negative regulation of neuron projection development (GO:0010977)|neuron differentiation (GO:0030182)|osteoblast differentiation (GO:0001649)|palate development (GO:0060021)|paraxial mesodermal cell fate commitment (GO:0048343)|platelet aggregation (GO:0070527)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of canonical Wnt signaling pathway involved in controlling type B pancreatic cell proliferation (GO:2000081)|positive regulation of cardiac muscle cell differentiation (GO:2000727)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-cell adhesion mediated by cadherin (GO:2000049)|positive regulation of collateral sprouting in absence of injury (GO:0048697)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of dermatome development (GO:0061184)|positive regulation of mesodermal cell fate specification (GO:0048337)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of receptor internalization (GO:0002092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|post-anal tail morphogenesis (GO:0036342)|regulation of microtubule cytoskeleton organization (GO:0070507)|skeletal muscle cell differentiation (GO:0035914)|spinal cord association neuron differentiation (GO:0021527)|Wnt signaling pathway involved in forebrain neuroblast division (GO:0021874)	cell surface (GO:0009986)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)|receptor agonist activity (GO:0048018)|transcription coactivator activity (GO:0003713)			kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)	12		Prostate(94;0.0405)				CCAGCATCCCGGGCCTGGTCC	0.642																																						ENST00000284523.1																			0				kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)	12						c.(136-138)ccG>ccA		wingless-type MMTV integration site family, member 3A							50	49	49					1																	228210434		2203	4300	6503	SO:0001819	synonymous_variant	89780				axis specification|cell proliferation in forebrain|cell-cell signaling|cellular response to retinoic acid|convergent extension|dermatome development|dorsal/ventral neural tube patterning|embryonic pattern specification|extracellular matrix organization|hemopoietic stem cell proliferation|hippocampus development|inner ear morphogenesis|mammary gland development|midbrain-hindbrain boundary development|negative regulation of fat cell differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of neuron projection development|notochord development|palate development|paraxial mesodermal cell fate commitment|positive regulation of catenin import into nucleus|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein binding|positive regulation of receptor internalization|positive regulation of transcription from RNA polymerase II promoter|signalosome assembly|tail morphogenesis|Wnt receptor signaling pathway involved in forebrain neuroblast division|Wnt receptor signaling pathway, calcium modulating pathway	cell surface|early endosome|extracellular space|late endosome|membrane raft|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|frizzled-2 binding|receptor agonist activity|signal transducer activity|transcription coactivator activity	g.chr1:228210434G>A	AB060284	CCDS1564.1	1q42	2013-02-28			ENSG00000154342	ENSG00000154342		"Wingless-type MMTV integration sites", "Endogenous ligands"	15983	protein-coding gene	gene with protein product		606359				11414706	Standard	NM_033131		Approved		uc001hrq.2	P56704	OTTHUMG00000037593	ENST00000284523.1:c.138G>A	1.37:g.228210434G>A						WNT3A_ENST00000366753.2_Silent_p.P46P	p.P46P	NM_033131.3	NP_149122.1	P56704	WNT3A_HUMAN			2	216	+		Prostate(94;0.0405)	46					Q3SY79|Q3SY80|Q969P2	Silent	SNP	ENST00000284523.1	37	c.138G>A	CCDS1564.1																																																																																				0.642	WNT3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091648.1	NM_033131		29	63	0	0	0	1	0	29	63					A	228210434	G	A	228210434	2	1	305	1	0	0	0	0	0	0	0	1	17386	1103	39	2		2	WNT3A	1	228210434	Silent	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	1875987	228210434	21040187	118	14635											
OBSCN	84033	broad.mit.edu	37	chr1	228557668	228557668	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctgctcatccccatttgccGgcgagagtgaccgtgccacc	6	8	10	17	3	1	2	1	1	0	1	2	3	2	2	7	1	3	1	7	1	0	1	rs199654965		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:228557668G>A	ENST00000422127.1	+	91	20037	c.19993G>A	c.(19993-19995)Ggc>Agc	p.G6665S	OBSCN_ENST00000366707.4_Missense_Mutation_p.G4299S|OBSCN_ENST00000570156.2_Missense_Mutation_p.G7622S	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	6665	Protein kinase 1. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CCCATTTGCCGGCGAGAGTGA	0.622													G|||	1	0.000199681	0	0	5008	,	,		20137	0		0	False		,,,				2504	0.001					ENST00000570156.2																			0				NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223						c.(22864-22866)Ggc>Agc		obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF		G	SER/GLY	1,4073		0,1,2036	70	72	72		19993	4.8	0	1		72	1,8369		0,1,4184	yes	missense	OBSCN	NM_001098623.1	56	0,2,6220	AA,AG,GG		0.0119,0.0245,0.0161	probably-damaging	6665/7969	228557668	2,12442	2037	4185	6222	SO:0001583	missense	84033				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	g.chr1:228557668G>A	AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"Rho guanine nucleotide exchange factors", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.19993G>A	1.37:g.228557668G>A	ENSP00000409493:p.Gly6665Ser					OBSCN_ENST00000422127.1_Missense_Mutation_p.G6665S|OBSCN_ENST00000366707.4_Missense_Mutation_p.G4299S	p.G7622S	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN			102	22938	+		Prostate(94;0.0405)	6665			Fibronectin type-III 4.		Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Missense_Mutation	SNP	ENST00000422127.1	37	c.22864G>A	CCDS58065.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.0|20.0	3.931020|3.931020	0.73327|0.73327	2.45E-4|2.45E-4	1.19E-4|1.19E-4	ENSG00000154358|ENSG00000154358	ENST00000422127;ENST00000366707|ENST00000441106	T;T|.	0.46451|.	0.87;0.87|.	4.78|4.78	4.78|4.78	0.61160|0.61160	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	.|.	.|.	.|.	.|.	T|T	0.72748|0.72748	0.3499|0.3499	M|M	0.66378|0.66378	2.025|2.025	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.87578|.	0.998|.	T|T	0.72178|0.72178	-0.4369|-0.4369	9|5	0.19590|.	T|.	0.45|.	.|.	16.174|16.174	0.81840|0.81840	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	6665|.	Q5VST9|.	OBSCN_HUMAN|.	S|Q	6665;4299|1281	ENSP00000409493:G6665S;ENSP00000355668:G4299S|.	ENSP00000355668:G4299S|.	G|R	+|+	1|2	0|0	OBSCN|OBSCN	226624291|226624291	1.000000|1.000000	0.71417|0.71417	0.039000|0.039000	0.18376|0.18376	0.271000|0.271000	0.26615|0.26615	8.809000|8.809000	0.91944|0.91944	2.495000|2.495000	0.84180|0.84180	0.455000|0.455000	0.32223|0.32223	GGC|CGG		0.622	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843		16	52	0	0	0	1	0	16	52					A	228557668	G	A	228557668	3	1	305	1	0	0	0	0	1	0	0	0	10812	1116	39	2	21561	2	OBSCN	1	228557668	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	347234	228557668	20692953	119	14636											
PCNXL2	80003	broad.mit.edu	37	chr1	233190117	233190117	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagccaaaataaagcaatcGccagagctgtagttgcccca	15	6	9	11	1	0	1	0	0	0	1	1	2	0	1	4	0	4	4	4	0	7	3			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:233190117G>A	ENST00000258229.9	-	25	4482	c.4248C>T	c.(4246-4248)ggC>ggT	p.G1416G	PCNXL2_ENST00000344698.2_Silent_p.G68G	NM_014801.3	NP_055616.3	A6NKB5	PCX2_HUMAN	pecanex-like 2 (Drosophila)	1416						integral component of membrane (GO:0016021)				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				TAAAGCAATCGCCAGAGCTGT	0.443																																						ENST00000258229.8																			0				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86						c.(4246-4248)ggC>ggT		pecanex-like 2 (Drosophila)							66	65	65					1																	233190117		1890	4118	6008	SO:0001819	synonymous_variant	80003					integral to membrane		g.chr1:233190117G>A	AK055374	CCDS44335.1	1q42.2	2008-02-05	2001-11-28		ENSG00000135749	ENSG00000135749			8736	protein-coding gene	gene with protein product			"pecanex (Drosophila)-like 2"			12477932	Standard	NM_014801		Approved	KIAA0435, FLJ11383	uc001hvl.2	A6NKB5	OTTHUMG00000037824	ENST00000258229.9:c.4248C>T	1.37:g.233190117G>A						PCNXL2_ENST00000344698.2_Silent_p.G68G	p.G1416G	NM_014801.3	NP_055616.3	A6NKB5	PCX2_HUMAN			25	4482	-		all_cancers(173;0.0347)|Prostate(94;0.137)	1416					O43162|Q5T9Z8|Q5TDF1|Q8TEP4|Q96HP9|Q9HAL8	Silent	SNP	ENST00000258229.9	37	c.4248C>T	CCDS44335.1																																																																																				0.443	PCNXL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092480.3	NM_014801		11	36	0	0	0	1	0	11	36					A	233190117	G	A	233190117	2	1	305	1	0	0	0	0	0	0	0	1	11592	1074	38	1		1	PCNXL2	1	233190117	Silent	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	4632449	233190117	16060504	120	14637											
KIF26B	55083	broad.mit.edu	37	chr1	245861488	245861488	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaccccccaacagcacaggcGtccgctgggtggatggcccc	8	4	12	17	2	0	0	0	0	0	0	1	1	1	1	6	4	3	2	6	4	2	0			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:245861488G>A	ENST00000407071.2	+	13	6345	c.5905G>A	c.(5905-5907)Gtc>Atc	p.V1969I	KIF26B_ENST00000366518.4_Missense_Mutation_p.V1588I	NM_018012.3	NP_060482.2	Q2KJY2	KI26B_HUMAN	kinesin family member 26B	1969					establishment of cell polarity (GO:0030010)|metabolic process (GO:0008152)|positive regulation of cell-cell adhesion (GO:0022409)|ureteric bud invasion (GO:0072092)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		OV - Ovarian serous cystadenocarcinoma(106;0.022)			CAGCACAGGCGTCCGCTGGGT	0.602																																						ENST00000366518.4																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51						c.(4762-4764)Gtc>Atc		kinesin family member 26B							41	44	43					1																	245861488		1855	4095	5950	SO:0001583	missense	55083				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr1:245861488G>A	AK001019	CCDS44342.1	1q44	2008-02-05			ENSG00000162849	ENSG00000162849		"Kinesins"	25484	protein-coding gene	gene with protein product		614026					Standard	NM_018012		Approved	FLJ10157	uc001ibf.1	Q2KJY2	OTTHUMG00000040079	ENST00000407071.2:c.5905G>A	1.37:g.245861488G>A	ENSP00000385545:p.Val1969Ile					KIF26B_ENST00000407071.2_Missense_Mutation_p.V1969I	p.V1588I			Q2KJY2	KI26B_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.022)		10	4866	+	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		1969					Q6ZQR9|Q6ZUZ0|Q8IUN3|Q8IVR1|Q9NWB4	Missense_Mutation	SNP	ENST00000407071.2	37	c.4762G>A	CCDS44342.1	.	.	.	.	.	.	.	.	.	.	G	0.427	-0.905232	0.02453	.	.	ENSG00000162849	ENST00000407071;ENST00000366518;ENST00000413001	T;T	0.77489	-1.1;-1.1	5.68	-1.17	0.09648	.	.	.	.	.	T	0.64821	0.2633	L	0.41027	1.25	0.28435	N	0.917073	B	0.11235	0.004	B	0.04013	0.001	T	0.52593	-0.8555	9	0.31617	T	0.26	.	7.6503	0.28344	0.1871:0.3217:0.4913:0.0	.	1969	Q2KJY2	KI26B_HUMAN	I	1969;1588;1585	ENSP00000385545:V1969I;ENSP00000355475:V1588I	ENSP00000355475:V1588I	V	+	1	0	KIF26B	243928111	0.945000	0.32115	0.349000	0.25694	0.083000	0.17756	1.439000	0.35013	0.061000	0.16311	-0.150000	0.13652	GTC		0.602	KIF26B-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381037.1	XM_371354		15	39	0	0	0	1	0	15	39					A	245861488	G	A	245861488	3	1	305	1	0	0	0	0	1	0	0	0	8295	1145	40	1	5955	1	KIF26B	1	245861488	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	12671371	245861488	3389133	121	14638											
TFB2M	64216	broad.mit.edu	37	chr1	246711852	246711852	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttattttattcttaccctacGctttgggttttccagcggcc	5	18	7	11	2	1	0	0	0	1	0	2	0	2	0	3	2	3	2	3	2	4	9			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:246711852G>A	ENST00000366514.4	-	6	1038	c.853C>T	c.(853-855)Cgt>Tgt	p.R285C	TFB2M_ENST00000544618.1_3'UTR	NM_022366.2	NP_071761.1	Q9H5Q4	TFB2M_HUMAN	transcription factor B2, mitochondrial	285					gene expression (GO:0010467)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from mitochondrial promoter (GO:0006390)|transcription initiation from mitochondrial promoter (GO:0006391)	mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)	poly(A) RNA binding (GO:0044822)|rRNA (adenine-N6,N6-)-dimethyltransferase activity (GO:0000179)|transcription cofactor activity (GO:0003712)			breast(1)|endometrium(1)|kidney(12)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	28	all_cancers(71;4.25e-05)|all_epithelial(71;4.92e-06)|Ovarian(71;0.0254)|all_lung(81;0.0272)|Breast(184;0.0318)|Lung NSC(105;0.0376)		OV - Ovarian serous cystadenocarcinoma(106;0.00358)			CTTACCCTACGCTTTGGGTTT	0.348																																						ENST00000366514.4																			0				breast(1)|endometrium(1)|kidney(12)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	28						c.(853-855)Cgt>Tgt		transcription factor B2, mitochondrial							55	60	58					1																	246711852		2202	4300	6502	SO:0001583	missense	64216				positive regulation of transcription, DNA-dependent|transcription initiation from mitochondrial promoter	mitochondrial nucleoid	protein binding|rRNA (adenine-N6,N6-)-dimethyltransferase activity|transcription cofactor activity	g.chr1:246711852G>A	AK026835	CCDS1627.1	1q44	2008-02-05			ENSG00000162851	ENSG00000162851			18559	protein-coding gene	gene with protein product		607055					Standard	NM_022366		Approved	FLJ23182, FLJ22661, Hkp1	uc001ibn.3	Q9H5Q4	OTTHUMG00000040091	ENST00000366514.4:c.853C>T	1.37:g.246711852G>A	ENSP00000355471:p.Arg285Cys					TFB2M_ENST00000544618.1_3'UTR	p.R285C	NM_022366.2	NP_071761.1	Q9H5Q4	TFB2M_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00358)		6	1038	-	all_cancers(71;4.25e-05)|all_epithelial(71;4.92e-06)|Ovarian(71;0.0254)|all_lung(81;0.0272)|Breast(184;0.0318)|Lung NSC(105;0.0376)		285					Q9H626	Missense_Mutation	SNP	ENST00000366514.4	37	c.853C>T	CCDS1627.1	.	.	.	.	.	.	.	.	.	.	G	14.83	2.651519	0.47362	.	.	ENSG00000162851	ENST00000366514	T	0.33654	1.4	4.55	-4.47	0.03525	.	2.309490	0.01584	N	0.021253	T	0.39462	0.1079	L	0.36672	1.1	0.09310	N	0.999999	D	0.64830	0.994	P	0.56612	0.802	T	0.46275	-0.9203	10	0.41790	T	0.15	1.5172	6.1396	0.20253	0.2404:0.0:0.163:0.5966	.	285	Q9H5Q4	TFB2M_HUMAN	C	285	ENSP00000355471:R285C	ENSP00000355471:R285C	R	-	1	0	TFB2M	244778475	0.000000	0.05858	0.000000	0.03702	0.035000	0.12851	-0.662000	0.05305	-0.453000	0.07076	-0.351000	0.07748	CGT		0.348	TFB2M-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096673.1	NM_022366		4	77	0	0	0	1	0	4	77					A	246711852	G	A	246711852	3	1	305	1	0	0	0	0	1	0	0	0	15791	1087	38	1	349	1	TFB2M	1	246711852	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	850364	246711852	2538769	122	14639											
ZNF670	93474	broad.mit.edu	37	chr1	247201212	247201212	+	Frame_Shift_Del	DEL	A	A	-																															atgttggcgaagagaactggAaaaagtgaatgatttaccac																										TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:247201212delA	ENST00000366503.2	-	4	867	c.709delT	c.(709-711)tccfs	p.S239fs		NM_001204220.1|NM_033213.4	NP_001191149.1|NP_149990.1	Q9BS34	ZN670_HUMAN	zinc finger protein 670	239					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	17	all_cancers(71;4.01e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00427)			AGAGAACTGGAAAAAGTGAAT	0.383																																						ENST00000366503.2																			0				NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	17						c.(709-711)ccfs		zinc finger protein 670							78	80	79					1																	247201212		2203	4299	6502	SO:0001589	frameshift_variant	93474				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:247201212delA		CCDS31087.1	1q44	2013-01-08			ENSG00000135747	ENSG00000135747		"Zinc fingers, C2H2-type", "-"	28167	protein-coding gene	gene with protein product						12477932	Standard	NM_033213		Approved	MGC12466	uc001icd.2	Q9BS34	OTTHUMG00000040868	ENST00000366503.2:c.709delT	1.37:g.247201212delA	ENSP00000355459:p.Ser239fs						p.S239fs	NM_001204220.1|NM_033213.4	NP_001191149.1|NP_149990.1	Q9BS34	ZN670_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00427)		4	867	-	all_cancers(71;4.01e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	239						Frame_Shift_Del	DEL	ENST00000366503.2	37	c.709delT	CCDS31087.1																																																																																				0.383	ZNF670-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098183.3	NM_033213		22	54						22	54	---	---	---	---	-	247201212	A	-	247201212	7	5	305	1	0	1	0	1	0	0	0	0	18074	246	9	0	464	0	ZNF670	1	247201212	Frame_Shift_Del	DEL	A	TCGA-KK-A59V-01A-11D-A29Q-08	489360	247201212	2049409	123	14640											
NLRP3	114548	broad.mit.edu	37	chr1	247587978	247587978	+	Frame_Shift_Del	DEL	C	C	-																															ctcttcaccatgtgcttcatCcccctggtctgctggatcgt																										TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:247587978delC	ENST00000336119.3	+	3	1979	c.1233delC	c.(1231-1233)atcfs	p.I411fs	NLRP3_ENST00000366497.2_Frame_Shift_Del_p.I411fs|NLRP3_ENST00000348069.2_Frame_Shift_Del_p.I411fs|NLRP3_ENST00000474792.1_3'UTR|NLRP3_ENST00000391828.3_Frame_Shift_Del_p.I411fs|NLRP3_ENST00000391827.2_Frame_Shift_Del_p.I411fs|NLRP3_ENST00000366496.2_Frame_Shift_Del_p.I411fs	NM_001127462.2|NM_001243133.1|NM_004895.4	NP_001120934.1|NP_001230062.1|NP_004886.3	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3	411	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|cellular response to lipopolysaccharide (GO:0071222)|defense response (GO:0006952)|defense response to virus (GO:0051607)|detection of biotic stimulus (GO:0009595)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-1 beta production (GO:0032611)|interleukin-1 secretion (GO:0050701)|interleukin-18 production (GO:0032621)|negative regulation of acute inflammatory response (GO:0002674)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 beta secretion (GO:0050713)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|NLRP3 inflammasome complex assembly (GO:0044546)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein oligomerization (GO:0051259)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|NLRP3 inflammasome complex (GO:0072559)	ATP binding (GO:0005524)|peptidoglycan binding (GO:0042834)			NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			TGTGCTTCATCCCCCTGGTCT	0.547																																						ENST00000366497.2																			0				NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142						c.(1231-1233)atfs		NLR family, pyrin domain containing 3							104	81	89					1																	247587978		2203	4300	6503	SO:0001589	frameshift_variant	114548				detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding	g.chr1:247587978delC	AF054176	CCDS1632.1, CCDS1633.1, CCDS44346.1, CCDS44347.1	1q44	2014-09-17	2006-12-08	2006-12-08	ENSG00000162711	ENSG00000162711		"Nucleotide-binding domain and leucine rich repeat containing"	16400	protein-coding gene	gene with protein product	"Cryopyrin", "nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 3"	606416	"cold autoinflammatory syndrome 1"	C1orf7, CIAS1		10741953	Standard	NM_183395		Approved	AGTAVPRL, AII, AVP, FCAS, FCU, NALP3, PYPAF1, MWS, CLR1.1	uc001icr.3	Q96P20	OTTHUMG00000040647	ENST00000336119.3:c.1233delC	1.37:g.247587978delC	ENSP00000337383:p.Ile411fs					NLRP3_ENST00000391828.3_Frame_Shift_Del_p.I411fs|NLRP3_ENST00000336119.3_Frame_Shift_Del_p.I411fs|NLRP3_ENST00000348069.2_Frame_Shift_Del_p.I411fs|NLRP3_ENST00000366496.2_Frame_Shift_Del_p.I411fs|NLRP3_ENST00000391827.2_Frame_Shift_Del_p.I411fs|NLRP3_ENST00000474792.1_3'UTR	p.I411fs	NM_001127461.2	NP_001120933.1	Q96P20	NALP3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0141)		4	2013	+	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	411			NACHT.		B2RC97|B7ZKS9|B7ZKT2|B7ZKT3|O75434|Q17RS2|Q59H68|Q5JQS8|Q5JQS9|Q6TG35|Q8TCW0|Q8TEU9|Q8WXH9	Frame_Shift_Del	DEL	ENST00000336119.3	37	c.1233delC	CCDS1632.1																																																																																				0.547	NLRP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097740.1	NM_004895		7	83						7	83	---	---	---	---	-	247587978	C	-	247587978	7	5	305	1	0	1	0	1	0	0	0	0	10478	845	30	0	1243	0	NLRP3	1	247587978	Frame_Shift_Del	DEL	C	TCGA-KK-A59V-01A-11D-A29Q-08	386766	247587978	1662643	124	14641											
OR2M3	127062	broad.mit.edu	37	chr1	248366442	248366442	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaatcacagccccacccacAccttcctcttctttctggtc	7	12	3	19	0	5	0	2	0	3	0	7	0	6	0	5	1	1	0	5	1	1	3			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:248366442A>G	ENST00000456743.1	+	1	111	c.73A>G	c.(73-75)Acc>Gcc	p.T25A		NM_001004689.1	NP_001004689.1	Q8NG83	OR2M3_HUMAN	olfactory receptor, family 2, subfamily M, member 3	25						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(6)|large_intestine(4)|lung(33)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	50	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			CCCCACCCACACCTTCCTCTT	0.512																																						ENST00000456743.1																			0				endometrium(6)|large_intestine(4)|lung(33)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	50						c.(73-75)Acc>Gcc		olfactory receptor, family 2, subfamily M, member 3							205	211	209					1																	248366442		2203	4298	6501	SO:0001583	missense	127062				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248366442A>G		CCDS31107.1	1q44	2012-08-09		2004-03-10	ENSG00000228198	ENSG00000228198		"GPCR / Class A : Olfactory receptors"	8269	protein-coding gene	gene with protein product				OR2M6, OR2M3P			Standard	NM_001004689		Approved	OST003	uc010pzg.2	Q8NG83	OTTHUMG00000040459	ENST00000456743.1:c.73A>G	1.37:g.248366442A>G	ENSP00000389625:p.Thr25Ala						p.T25A	NM_001004689.1	NP_001004689.1	Q8NG83	OR2M3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0245)		1	111	+	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		25					B9EH06|Q6IEY0	Missense_Mutation	SNP	ENST00000456743.1	37	c.73A>G	CCDS31107.1	.	.	.	.	.	.	.	.	.	.	A	8.397	0.841158	0.16891	.	.	ENSG00000228198	ENST00000456743	T	0.00012	9.3	2.61	1.37	0.22104	.	1.099150	0.07334	U	0.879684	T	0.00073	0.0002	N	0.10685	0.025	0.09310	N	1	B	0.19706	0.038	B	0.26614	0.071	T	0.00844	-1.1543	10	0.13108	T	0.6	.	3.7425	0.08536	0.3523:0.4205:0.2272:0.0	.	25	Q8NG83	OR2M3_HUMAN	A	25	ENSP00000389625:T25A	ENSP00000389625:T25A	T	+	1	0	OR2M3	246433065	0.000000	0.05858	0.001000	0.08648	0.702000	0.40608	-1.548000	0.02184	0.212000	0.20703	0.327000	0.21459	ACC		0.512	OR2M3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097355.1	NM_001004689		104	246	0	0	0	1	0	104	246					G	248366442	A	G	248366442	3	3	305	1	0	0	0	0	1	0	0	0	11011	159	6	4	75	4	OR2M3	1	248366442	Missense_Mutation	SNP	A	TCGA-KK-A59V-01A-11D-A29Q-08	778464	248366442	884179	125	14642											
SH3BP5L	80851	broad.mit.edu	37	chr1	249106151	249106151	+	Frame_Shift_Del	DEL	C	C	-																															cacgggctccgccgtcgctgCcccggcgccctccactccgc																										TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:249106151delC	ENST00000366472.5	-	7	2359	c.1130delG	c.(1129-1131)ggcfs	p.G377fs	SH3BP5L_ENST00000475978.1_5'UTR|SH3BP5L_ENST00000411742.2_Frame_Shift_Del_p.G345fs	NM_030645.1	NP_085148.1	Q7L8J4	3BP5L_HUMAN	SH3-binding domain protein 5-like	377										endometrium(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.19)	OV - Ovarian serous cystadenocarcinoma(106;0.00805)			GCCGTCGCTGCCCCGGCGCCC	0.701																																						ENST00000366472.5																			0				endometrium(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23						c.(1129-1131)gcfs		SH3-binding domain protein 5-like							7	8	8					1																	249106151		2173	4239	6412	SO:0001589	frameshift_variant	80851							g.chr1:249106151delC	AB051507	CCDS31126.1	1q44	2008-02-05			ENSG00000175137	ENSG00000175137			29360	protein-coding gene	gene with protein product							Standard	NM_030645		Approved	KIAA1720	uc001iew.1	Q7L8J4	OTTHUMG00000040389	ENST00000366472.5:c.1130delG	1.37:g.249106151delC	ENSP00000355428:p.Gly377fs					SH3BP5L_ENST00000411742.2_Frame_Shift_Del_p.G345fs|SH3BP5L_ENST00000475978.1_5'UTR	p.G377fs	NM_030645.1	NP_085148.1	Q7L8J4	3BP5L_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00805)		7	2359	-	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.19)	377					B4DQ94|Q96FI5|Q9BQH8|Q9C0E3	Frame_Shift_Del	DEL	ENST00000366472.5	37	c.1130delG	CCDS31126.1																																																																																				0.701	SH3BP5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097140.1	NM_030645		4	5						4	5	---	---	---	---	-	249106151	C	-	249106151	7	5	305	1	0	1	0	1	0	0	0	0	14248	739	26	0	55	0	SH3BP5L	1	249106151	Frame_Shift_Del	DEL	C	TCGA-KK-A59V-01A-11D-A29Q-08	739709	249106151	144470	126	14643											
PGBD2	267002	broad.mit.edu	37	chr1	249211136	249211136	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttggaccaaaagagatattcGtccagactttggcagttgga	12	11	11	7	1	0	2	0	0	0	2	2	5	1	4	2	3	0	2	2	3	3	5			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:249211136G>A	ENST00000329291.5	+	3	500	c.353G>A	c.(352-354)cGt>cAt	p.R118H	PGBD2_ENST00000355360.4_Intron|PGBD2_ENST00000462488.1_Intron|PGBD2_ENST00000539153.1_Missense_Mutation_p.R115H	NM_170725.2	NP_733843.1	Q6P3X8	PGBD2_HUMAN	piggyBac transposable element derived 2	118										NS(1)|endometrium(3)|lung(6)|ovary(1)|skin(3)	14	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.012)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			AGAGATATTCGTCCAGACTTT	0.493																																						ENST00000539153.1																			0				NS(1)|endometrium(3)|lung(6)|ovary(1)|skin(3)	14						c.(343-345)cGt>cAt		piggyBac transposable element derived 2							52	58	56					1																	249211136		2203	4300	6503	SO:0001583	missense	0							g.chr1:249211136G>A	AF229602	CCDS31128.1, CCDS31129.1	1q	2008-02-05			ENSG00000185220	ENSG00000185220			19399	protein-coding gene	gene with protein product							Standard	XM_005270333		Approved		uc001ifh.3	Q6P3X8	OTTHUMG00000040424	ENST00000329291.5:c.353G>A	1.37:g.249211136G>A	ENSP00000331643:p.Arg118His					PGBD2_ENST00000355360.4_Intron|PGBD2_ENST00000329291.5_Missense_Mutation_p.R118H|PGBD2_ENST00000462488.1_Intron	p.R115H			Q6P3X8	PGBD2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		4	599	+	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.012)	118					B3KVR8|Q6MZF8	Missense_Mutation	SNP	ENST00000329291.5	37	c.344G>A	CCDS31128.1	.	.	.	.	.	.	.	.	.	.	G	5.946	0.358501	0.11239	.	.	ENSG00000185220	ENST00000329291;ENST00000539153	T;T	0.11821	2.74;2.74	4.04	0.983	0.19767	.	.	.	.	.	T	0.10121	0.0248	L	0.36672	1.1	0.09310	N	1	B;B	0.12013	0.005;0.002	B;B	0.06405	0.002;0.001	T	0.30001	-0.9993	9	0.45353	T	0.12	-23.2531	5.7119	0.17938	0.3785:0.0:0.6215:0.0	.	115;118	F5H4U7;Q6P3X8	.;PGBD2_HUMAN	H	118;115	ENSP00000331643:R118H;ENSP00000439950:R115H	ENSP00000331643:R118H	R	+	2	0	PGBD2	247177759	0.000000	0.05858	0.000000	0.03702	0.061000	0.15899	-1.066000	0.03454	0.100000	0.17581	0.655000	0.94253	CGT		0.493	PGBD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000097318.1			15	56	0	0	0	1	0	15	56					A	249211136	G	A	249211136	3	1	305	1	0	0	0	0	1	0	0	0	11781	1145	40	1	359	1	PGBD2	1	249211136	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	104985	249211136	39485	127	14644											
PGBD2	267002	broad.mit.edu	37	chr1	249211881	249211881	+	Frame_Shift_Del	DEL	G	G	-																															atgtccattttgaggaaaaaGggggtgaaagccacaggaac																								rs150352847		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:249211881delG	ENST00000329291.5	+	3	1245	c.1098delG	c.(1096-1098)aagfs	p.K366fs	PGBD2_ENST00000355360.4_Frame_Shift_Del_p.K115fs|PGBD2_ENST00000539153.1_Frame_Shift_Del_p.K363fs	NM_170725.2	NP_733843.1	Q6P3X8	PGBD2_HUMAN	piggyBac transposable element derived 2	366										NS(1)|endometrium(3)|lung(6)|ovary(1)|skin(3)	14	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.012)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			TGAGGAAAAAGGGGGTGAAAG	0.418																																						ENST00000355360.4																			0				NS(1)|endometrium(3)|lung(6)|ovary(1)|skin(3)	14						c.(343-345)aafs		piggyBac transposable element derived 2							79	84	82					1																	249211881		2203	4300	6503	SO:0001589	frameshift_variant	0							g.chr1:249211881delG	AF229602	CCDS31128.1, CCDS31129.1	1q	2008-02-05			ENSG00000185220	ENSG00000185220			19399	protein-coding gene	gene with protein product							Standard	XM_005270333		Approved		uc001ifh.3	Q6P3X8	OTTHUMG00000040424	ENST00000329291.5:c.1098delG	1.37:g.249211881delG	ENSP00000331643:p.Lys366fs					PGBD2_ENST00000329291.5_Frame_Shift_Del_p.K366fs|PGBD2_ENST00000539153.1_Frame_Shift_Del_p.K363fs	p.K115fs	NM_001017434.1	NP_001017434.1	Q6P3X8	PGBD2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		3	615	+	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.012)	366					B3KVR8|Q6MZF8	Frame_Shift_Del	DEL	ENST00000329291.5	37	c.345delG	CCDS31128.1																																																																																				0.418	PGBD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000097318.1			34	92						34	92	---	---	---	---	-	249211881	G	-	249211881	7	5	305	1	0	1	0	1	0	0	0	0	11781	991	35	0	1104	0	PGBD2	1	249211881	Frame_Shift_Del	DEL	G	TCGA-KK-A59V-01A-11D-A29Q-08	745	249211881	38740	128	14645											
PXDN	7837	broad.mit.edu	37	chr2	1652754	1652754	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgccctgccgcagcaggccgCggtggctggccaggtcgcgg	3	5	18	15	5	0	0	0	0	0	0	1	0	0	0	4	6	3	3	4	6	0	0			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr2:1652754C>T	ENST00000252804.4	-	17	2848	c.2798G>A	c.(2797-2799)cGc>cAc	p.R933H		NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN	peroxidasin homolog (Drosophila)	933					extracellular matrix organization (GO:0030198)|hydrogen peroxide catabolic process (GO:0042744)|immune response (GO:0006955)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|oxidation-reduction process (GO:0055114)	endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|heme binding (GO:0020037)|interleukin-1 receptor antagonist activity (GO:0005152)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)			breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		CAGCAGGCCGCGGTGGCTGGC	0.692																																						ENST00000252804.4																			0				breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112						c.(2797-2799)cGc>cAc		peroxidasin homolog (Drosophila)							16	17	16					2																	1652754		1758	3768	5526	SO:0001583	missense	7837				extracellular matrix organization|hydrogen peroxide catabolic process|immune response	endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix	extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity	g.chr2:1652754C>T	AF200348	CCDS46221.1	2p25.3	2013-01-11			ENSG00000130508	ENSG00000130508		"Immunoglobulin superfamily / I-set domain containing"	14966	protein-coding gene	gene with protein product		605158				10441517, 9039502	Standard	XM_005264707		Approved	KIAA0230, PRG2, MG50, D2S448, D2S448E, PXN	uc002qxa.3	Q92626	OTTHUMG00000059697	ENST00000252804.4:c.2798G>A	2.37:g.1652754C>T	ENSP00000252804:p.Arg933His						p.R933H	NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)	17	2848	-	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)	933					A8QM65|D6W4Y0|Q4KMG2	Missense_Mutation	SNP	ENST00000252804.4	37	c.2798G>A	CCDS46221.1	.	.	.	.	.	.	.	.	.	.	C	25.4	4.631184	0.87660	.	.	ENSG00000130508	ENST00000252804	T	0.69175	-0.38	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	T	0.79082	0.4386	L	0.60067	1.865	0.53005	D	0.999968	D	0.69078	0.997	D	0.65140	0.932	T	0.77070	-0.2724	10	0.42905	T	0.14	-44.0952	19.8119	0.96549	0.0:1.0:0.0:0.0	.	933	Q92626	PXDN_HUMAN	H	933	ENSP00000252804:R933H	ENSP00000252804:R933H	R	-	2	0	PXDN	1631761	0.990000	0.36364	0.666000	0.29783	0.991000	0.79684	6.011000	0.70760	2.683000	0.91414	0.558000	0.71614	CGC		0.692	PXDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322505.1	XM_056455		11	34	0	0	0	1	0	11	34					T	1652754	C	T	1652754	3	4	305	1	0	0	0	0	1	0	0	0	12847	768	27	1	1669	1	PXDN	2	1652754	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08		1652754	241546619	129	14646											
MYT1L	23040	broad.mit.edu	37	chr2	1926367	1926367	+	Frame_Shift_Del	DEL	G	G	-																															gctggcaaacactctcgaccGggggctcaactgctcctcca																										TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr2:1926367delG	ENST00000399161.2	-	10	1921	c.1174delC	c.(1174-1176)cggfs	p.R392fs	MYT1L_ENST00000428368.2_Frame_Shift_Del_p.R392fs	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	392					cell differentiation (GO:0030154)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		ACTCTCGACCGGGGGCTCAAC	0.592																																						ENST00000399161.2																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97						c.(1174-1176)ggfs		myelin transcription factor 1-like							38	41	40					2																	1926367		2124	4241	6365	SO:0001589	frameshift_variant	23040				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr2:1926367delG	AF036943	CCDS46222.1	2p25.3	2013-01-10			ENSG00000186487	ENSG00000186487		"Zinc fingers, C2HC-type containing"	7623	protein-coding gene	gene with protein product	"neural zinc finger transcription factor 1"	613084				9373037	Standard	XM_006711862		Approved	KIAA1106, NZF1, ZC2HC4B	uc002qxd.3	Q9UL68	OTTHUMG00000151407	ENST00000399161.2:c.1174delC	2.37:g.1926367delG	ENSP00000382114:p.Arg392fs					MYT1L_ENST00000428368.2_Frame_Shift_Del_p.R392fs	p.R392fs	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)	10	1921	-	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)	392					A7E2C7|B2RP54|Q6IQ17|Q9UPP6	Frame_Shift_Del	DEL	ENST00000399161.2	37	c.1174delC																																																																																					0.592	MYT1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000322493.1	NM_015025		14	46						14	46	---	---	---	---	-	1926367	G	-	1926367	7	5	305	1	0	1	0	1	0	0	0	0	10107	1115	39	0	2444	0	MYT1L	2	1926367	Frame_Shift_Del	DEL	G	TCGA-KK-A59V-01A-11D-A29Q-08	273613	1926367	241273006	130	14647											
ASAP2	8853	broad.mit.edu	37	chr2	9528611	9528611	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgagtggcagcccacctccCgcccagcctgcagcccccag	6	4	10	21	1	0	1	0	1	0	0	1	1	1	1	7	1	4	2	7	1	0	0			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr2:9528611C>T	ENST00000281419.3	+	22	2659	c.2319C>T	c.(2317-2319)ccC>ccT	p.P773P	ASAP2_ENST00000491413.1_3'UTR|ASAP2_ENST00000315273.4_Silent_p.P773P	NM_003887.2	NP_003878.1	O43150	ASAP2_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 2	773	Pro-rich.				positive regulation of catalytic activity (GO:0043085)|regulation of ARF GTPase activity (GO:0032312)	Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	ARF GTPase activator activity (GO:0008060)|enzyme activator activity (GO:0008047)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	36						GCCCACCTCCCGCCCAGCCTG	0.587																																						ENST00000281419.3																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	36						c.(2317-2319)ccC>ccT		ArfGAP with SH3 domain, ankyrin repeat and PH domain 2							27	32	31					2																	9528611		2203	4300	6503	SO:0001819	synonymous_variant	8853				regulation of ARF GTPase activity	Golgi cisterna membrane|plasma membrane	ARF GTPase activator activity|protein binding|zinc ion binding	g.chr2:9528611C>T	AB007860	CCDS1661.1, CCDS46224.1	2p24	2013-01-10	2008-09-22	2008-09-22	ENSG00000151693	ENSG00000151693		"ADP-ribosylation factor GTPase activating proteins", "Pleckstrin homology (PH) domain containing", "Ankyrin repeat domain containing"	2721	protein-coding gene	gene with protein product	"centaurin, beta 3"	603817	"development and differentiation enhancing factor 2"	DDEF2		10022920, 9455477	Standard	NM_003887		Approved	KIAA0400, PAP, SHAG1, CENTB3	uc002qzh.2	O43150	OTTHUMG00000117485	ENST00000281419.3:c.2319C>T	2.37:g.9528611C>T						ASAP2_ENST00000491413.1_3'UTR|ASAP2_ENST00000315273.4_Silent_p.P773P	p.P773P	NM_003887.2	NP_003878.1	O43150	ASAP2_HUMAN			22	2659	+			773			Pro-rich.		D6W4Y8	Silent	SNP	ENST00000281419.3	37	c.2319C>T	CCDS1661.1																																																																																				0.587	ASAP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000237522.1	NM_003887		13	41	0	0	0	1	0	13	41					T	9528611	C	T	9528611	2	4	305	1	0	0	0	0	0	0	0	1	1011	639	23	2		2	ASAP2	2	9528611	Silent	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	7602244	9528611	233670762	131	14648											
PQLC3	130814	broad.mit.edu	37	chr2	11317936	11317936	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtacttcgctaccggaagacCgctataaaggctgaatgatg	12	9	11	9	3	0	3	0	2	0	1	1	4	0	4	2	2	2	4	2	2	7	5			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr2:11317936C>T	ENST00000295083.3	+	7	766	c.591C>T	c.(589-591)acC>acT	p.T197T	PQLC3_ENST00000402361.1_3'UTR|PQLC3_ENST00000441908.2_Silent_p.T183T	NM_152391.3	NP_689604.1	Q8N755	PQLC3_HUMAN	PQ loop repeat containing 3	197						integral component of membrane (GO:0016021)				kidney(2)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	6	all_hematologic(175;0.0797)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.0978)|OV - Ovarian serous cystadenocarcinoma(76;0.132)		ACCGGAAGACCGCTATAAAGG	0.348																																						ENST00000295083.3																			0				kidney(2)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	6						c.(589-591)acC>acT		PQ loop repeat containing 3							96	94	95					2																	11317936		2203	4300	6503	SO:0001819	synonymous_variant	130814					integral to membrane		g.chr2:11317936C>T	BC027625	CCDS1679.1, CCDS62856.1, CCDS62857.1	2p25.1	2004-02-05	2005-07-19	2005-07-19	ENSG00000162976	ENSG00000162976			28503	protein-coding gene	gene with protein product			"chromosome 2 open reading frame 22"	C2orf22		12477932	Standard	NM_001282711		Approved	MGC33602	uc002rbc.3	Q8N755	OTTHUMG00000119055	ENST00000295083.3:c.591C>T	2.37:g.11317936C>T						PQLC3_ENST00000441908.2_Silent_p.T183T|PQLC3_ENST00000402361.1_3'UTR	p.T197T	NM_152391.3	NP_689604.1	Q8N755	PQLC3_HUMAN		Epithelial(75;0.0978)|OV - Ovarian serous cystadenocarcinoma(76;0.132)	7	766	+	all_hematologic(175;0.0797)|Acute lymphoblastic leukemia(172;0.155)		197					B2R8K1|B4DWA4	Silent	SNP	ENST00000295083.3	37	c.591C>T	CCDS1679.1																																																																																				0.348	PQLC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239266.4	NM_152391		5	45	0	0	0	1	0	5	45					T	11317936	C	T	11317936	2	4	305	1	0	0	0	0	0	0	0	1	12420	639	23	2		2	PQLC3	2	11317936	Silent	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	1789325	11317936	231881437	132	14649											
NBAS	51594	broad.mit.edu	37	chr2	15372633	15372633	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	caccaaggtcagcactgccaCcactgtgaaaagagagataa	16	5	9	11	0	1	3	1	1	0	2	1	4	1	3	3	1	2	1	3	1	4	1			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr2:15372633C>A	ENST00000281513.5	-	47	6174	c.6149G>T	c.(6148-6150)gGt>gTt	p.G2050V	NBAS_ENST00000441750.1_Missense_Mutation_p.G1930V	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN	neuroblastoma amplified sequence	2050					negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:2000623)|nuclear-transcribed mRNA catabolic process (GO:0000956)	cytoplasm (GO:0005737)|membrane (GO:0016020)				NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						AGCACTGCCACCACTGTGAAA	0.483																																						ENST00000281513.5																			0				NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						c.(6148-6150)gGt>gTt		neuroblastoma amplified sequence							72	59	63					2																	15372633		2203	4300	6503	SO:0001583	missense	51594							g.chr2:15372633C>A	BC051792	CCDS1685.1	2p24.3	2009-02-23			ENSG00000151779	ENSG00000151779			15625	protein-coding gene	gene with protein product		608025				9926938, 12706883	Standard	NM_015909		Approved	NAG	uc002rcc.2	A2RRP1	OTTHUMG00000121153	ENST00000281513.5:c.6149G>T	2.37:g.15372633C>A	ENSP00000281513:p.Gly2050Val					NBAS_ENST00000441750.1_Missense_Mutation_p.G1930V	p.G2050V	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN			47	6174	-			2050					O95790|Q2VPJ7|Q53TK6|Q86V39|Q8NFY8|Q9Y3W5	Missense_Mutation	SNP	ENST00000281513.5	37	c.6149G>T	CCDS1685.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.31|17.31	3.358237|3.358237	0.61403|0.61403	.|.	.|.	ENSG00000151779|ENSG00000151779	ENST00000441750;ENST00000281513;ENST00000417461|ENST00000442506	T;T;T|.	0.53206|.	2.83;3.01;0.63|.	5.67|5.67	3.89|3.89	0.44902|0.44902	.|.	0.097858|.	0.64402|.	D|.	0.000001|.	T|T	0.63803|0.63803	0.2542|0.2542	M|M	0.63843|0.63843	1.955|1.955	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;0.995|.	D;D|.	0.77004|.	0.989;0.92|.	T|T	0.60692|0.60692	-0.7213|-0.7213	10|5	0.87932|.	D|.	0|.	.|.	11.5654|11.5654	0.50802|0.50802	0.0:0.8553:0.0:0.1447|0.0:0.8553:0.0:0.1447	.|.	1930;2050|.	A2RRP1-2;A2RRP1|.	.;NBAS_HUMAN|.	V|L	1930;2050;142|1098	ENSP00000413201:G1930V;ENSP00000281513:G2050V;ENSP00000392421:G142V|.	ENSP00000281513:G2050V|.	G|V	-|-	2|1	0|0	NBAS|NBAS	15290084|15290084	0.733000|0.733000	0.28132|0.28132	0.674000|0.674000	0.29902|0.29902	0.851000|0.851000	0.48451|0.48451	1.361000|1.361000	0.34136|0.34136	0.761000|0.761000	0.33130|0.33130	-0.136000|-0.136000	0.14681|0.14681	GGT|GTG		0.483	NBAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241638.1	NM_015909		9	30	1	0	2.74318e-10	1	2.85122e-10	9	30					A	15372633	C	A	15372633	3	1	305	1	0	0	0	0	1	0	0	0	10186	507	18	5	990	5	NBAS	2	15372633	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	4054697	15372633	227826740	133	14650											
PUM2	23369	broad.mit.edu	37	chr2	20511377	20511377	+	Frame_Shift_Del	DEL	T	T	-																															tcaaatggagaagccttgccTttttgatctcctttctcagg																								rs34931937		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr2:20511377delT	ENST00000361078.2	-	4	418	c.396delA	c.(394-396)aaafs	p.K132fs	PUM2_ENST00000319801.5_Frame_Shift_Del_p.K132fs|PUM2_ENST00000403432.1_Frame_Shift_Del_p.K132fs|PUM2_ENST00000536417.1_Frame_Shift_Del_p.K76fs|PUM2_ENST00000338086.5_Frame_Shift_Del_p.K132fs|PUM2_ENST00000420234.1_Intron			Q8TB72	PUM2_HUMAN	pumilio RNA-binding family member 2	132	Interaction with SNAPIN.				regulation of translation (GO:0006417)|stress granule assembly (GO:0034063)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|nuclear membrane (GO:0031965)|perinuclear region of cytoplasm (GO:0048471)	poly(A) RNA binding (GO:0044822)			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(7)|lung(13)|ovary(2)|prostate(4)|urinary_tract(3)	42	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AAGCCTTGCCTTTTTGATCTC	0.373																																						ENST00000361078.2																			0				breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(7)|lung(13)|ovary(2)|prostate(4)|urinary_tract(3)	42						c.(394-396)aafs		pumilio RNA-binding family member 2							147	133	138					2																	20511377		2203	4300	6503	SO:0001589	frameshift_variant	23369				regulation of translation	perinuclear region of cytoplasm|stress granule	protein binding|RNA binding	g.chr2:20511377delT	AF315591	CCDS1698.1, CCDS74486.1, CCDS74487.1	2p22-p21	2013-09-02	2013-09-02		ENSG00000055917	ENSG00000055917			14958	protein-coding gene	gene with protein product		607205	"pumilio (Drosphila) homolog 2", "pumilio homolog 2 (Drosophila)"			9039502, 12459267, 12511597	Standard	XM_005262607		Approved	PUMH2, KIAA0235	uc002rds.1	Q8TB72	OTTHUMG00000122098	ENST00000361078.2:c.396delA	2.37:g.20511377delT	ENSP00000354370:p.Lys132fs					PUM2_ENST00000403432.1_Frame_Shift_Del_p.K132fs|PUM2_ENST00000536417.1_Frame_Shift_Del_p.K76fs|PUM2_ENST00000420234.1_Intron|PUM2_ENST00000338086.5_Frame_Shift_Del_p.K132fs|PUM2_ENST00000319801.5_Frame_Shift_Del_p.K132fs	p.K132fs			Q8TB72	PUM2_HUMAN			4	418	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		132			Interaction with SNAPIN.		B3KSL0|B4E2B6|D6W527|O00234|Q53TV7|Q8WY43|Q9HAN2	Frame_Shift_Del	DEL	ENST00000361078.2	37	c.396delA																																																																																					0.373	PUM2-202	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015317		17	31						17	31	---	---	---	---	-	20511377	T	-	20511377	7	5	305	1	0	1	0	1	0	0	0	0	12826	1606	56	0	2866	0	PUM2	2	20511377	Frame_Shift_Del	DEL	T	TCGA-KK-A59V-01A-11D-A29Q-08	5138744	20511377	222687996	134	14651											
C2orf44	80304	broad.mit.edu	37	chr2	24262246	24262246	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgacctctccactgtgaagcCgcaaatcagttaggacaact	12	9	8	12	1	2	2	1	2	1	0	3	3	2	3	3	1	2	2	3	1	4	1			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr2:24262246C>T	ENST00000295148.4	-	2	176	c.119G>A	c.(118-120)cGg>cAg	p.R40Q	C2orf44_ENST00000406895.3_Missense_Mutation_p.R40Q	NM_025203.2	NP_079479.1	Q9H6R7	CB044_HUMAN	chromosome 2 open reading frame 44	40									C2orf44/ALK(2)	breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	24	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ACTGTGAAGCCGCAAATCAGT	0.507			T	ALK	NSCLC																																	ENST00000295148.4				Dom	yes		2	2p23.3	80304	T	chromosome 2 open reading frame 44			E	ALK		NSCLC	C2orf44/ALK(2)	0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	24						c.(118-120)cGg>cAg		chromosome 2 open reading frame 44							121	107	112					2																	24262246		2203	4300	6503	SO:0001583	missense	80304						protein binding	g.chr2:24262246C>T	AK025598	CCDS1705.1, CCDS46229.1	2p23.3	2012-07-30			ENSG00000163026	ENSG00000163026			26157	protein-coding gene	gene with protein product						22327622	Standard	NM_025203		Approved	FLJ21945	uc002rep.2	Q9H6R7	OTTHUMG00000125498	ENST00000295148.4:c.119G>A	2.37:g.24262246C>T	ENSP00000295148:p.Arg40Gln					C2orf44_ENST00000406895.3_Missense_Mutation_p.R40Q	p.R40Q	NM_025203.2	NP_079479.1	Q9H6R7	CB044_HUMAN			2	176	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		40					D6W532|Q8IYK0|Q9HBP5	Missense_Mutation	SNP	ENST00000295148.4	37	c.119G>A	CCDS1705.1	.	.	.	.	.	.	.	.	.	.	C	7.417	0.635953	0.14386	.	.	ENSG00000163026	ENST00000295148;ENST00000406895;ENST00000443232	T;T;T	0.38887	3.44;3.44;1.11	5.24	1.23	0.21249	.	0.488094	0.24352	N	0.039266	T	0.08846	0.0219	N	0.00197	-1.87	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.35549	-0.9784	10	0.18276	T	0.48	2.1853	5.8622	0.18754	0.0:0.159:0.1383:0.7027	.	40;40	Q9H6R7-2;Q9H6R7	.;CB044_HUMAN	Q	40	ENSP00000295148:R40Q;ENSP00000385816:R40Q;ENSP00000413426:R40Q	ENSP00000295148:R40Q	R	-	2	0	C2orf44	24115750	0.996000	0.38824	0.510000	0.27712	0.425000	0.31504	2.321000	0.43805	0.382000	0.24878	-0.294000	0.09567	CGG		0.507	C2orf44-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000246825.1	NM_025203		16	62	0	0	0	1	0	16	62					T	24262246	C	T	24262246	3	4	305	1	0	0	0	0	1	0	0	0	2168	652	23	2	2058	2	C2orf44	2	24262246	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	3750869	24262246	218937127	135	14652											
DTNB	1838	broad.mit.edu	37	chr2	25611102	25611102	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcctcctgcacgtctcccccGactccgctcagcgagtcctg	4	8	9	20	4	2	0	1	0	1	0	6	2	5	0	6	0	2	2	6	0	0	0	rs200383554	byFrequency	TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr2:25611102G>A	ENST00000406818.3	-	17	1953	c.1704C>T	c.(1702-1704)gtC>gtT	p.V568V	DTNB_ENST00000405222.1_Silent_p.V531V|DTNB_ENST00000288642.8_Silent_p.V568V|DTNB_ENST00000407661.3_Silent_p.V568V|DTNB_ENST00000496972.2_Silent_p.V504V|DTNB_ENST00000404103.3_Silent_p.V568V|DTNB_ENST00000545439.1_Silent_p.V357V|DTNB_ENST00000407186.1_Silent_p.V531V|DTNB_ENST00000407038.3_Silent_p.V538V	NM_001256303.1|NM_021907.4	NP_001243232.1|NP_068707.1	O60941	DTNB_HUMAN	dystrobrevin, beta	568						cytoplasm (GO:0005737)|synapse (GO:0045202)	calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(3)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	11	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CGTCTCCCCCGACTCCGCTCA	0.652													G|||	4	0.000798722	8e-04	0	5008	,	,		16368	0		0.002	False		,,,				2504	0.001					ENST00000406818.3																			0				endometrium(1)|large_intestine(3)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	11						c.(1702-1704)gtC>gtT		dystrobrevin, beta		G	,,,,	5,3975		0,5,1985	18	22	21		1704,1704,1614,1704,1593	-3.3	0.5	2		21	42,8304		0,42,4131	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	DTNB	NM_021907.3,NM_033147.2,NM_033148.2,NM_183360.1,NM_183361.1	,,,,	0,47,6116	AA,AG,GG		0.5032,0.1256,0.3813	,,,,	568/628,568/598,538/568,568/610,531/561	25611102	47,12279	1990	4173	6163	SO:0001819	synonymous_variant	1838					cytoplasm	calcium ion binding|zinc ion binding	g.chr2:25611102G>A	AF022728	CCDS46233.1, CCDS46234.1, CCDS46235.1, CCDS46236.1, CCDS46237.1, CCDS58702.1, CCDS74496.1	2p23.2	2008-05-15			ENSG00000138101	ENSG00000138101			3058	protein-coding gene	gene with protein product		602415				9419360	Standard	NM_021907		Approved		uc002rgh.4	O60941	OTTHUMG00000152129	ENST00000406818.3:c.1704C>T	2.37:g.25611102G>A						DTNB_ENST00000545439.1_Silent_p.V357V|DTNB_ENST00000496972.2_Silent_p.V504V|DTNB_ENST00000407661.3_Silent_p.V568V|DTNB_ENST00000407038.3_Silent_p.V538V|DTNB_ENST00000288642.8_Silent_p.V568V|DTNB_ENST00000404103.3_Silent_p.V568V|DTNB_ENST00000407186.1_Silent_p.V531V|DTNB_ENST00000405222.1_Silent_p.V531V	p.V568V	NM_001256303.1|NM_021907.4	NP_001243232.1|NP_068707.1	O60941	DTNB_HUMAN			17	1953	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		568					B7Z733|F5GZG4|G5E9F6|O43782|O60881|O75538|Q86VR4|Q96AW0|Q9UE14|Q9UE15|Q9UE16	Silent	SNP	ENST00000406818.3	37	c.1704C>T	CCDS46237.1																																																																																				0.652	DTNB-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000325361.1	NM_033147		8	19	0	0	0	1	0	8	19					A	25611102	G	A	25611102	2	1	305	1	0	0	0	0	0	0	0	1	4789	1045	37	2		2	DTNB	2	25611102	Silent	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	1348856	25611102	217588271	136	14653											
OTOF	9381	broad.mit.edu	37	chr2	26689975	26689975	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctggcctgaccttgaagcGtcccacaatgcgctcctcct	6	10	8	17	2	0	2	0	2	0	0	4	2	4	2	6	1	2	1	6	1	2	1	rs560665036		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr2:26689975G>A	ENST00000272371.2	-	35	4480	c.4354C>T	c.(4354-4356)Cgc>Tgc	p.R1452C	OTOF_ENST00000338581.6_Missense_Mutation_p.R685C|OTOF_ENST00000402415.3_Missense_Mutation_p.R762C|OTOF_ENST00000339598.3_Missense_Mutation_p.R685C|OTOF_ENST00000403946.3_Missense_Mutation_p.R1452C	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN	otoferlin	1452					membrane fusion (GO:0061025)|sensory perception of sound (GO:0007605)|synaptic vesicle exocytosis (GO:0016079)	cell junction (GO:0030054)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synaptic vesicle membrane (GO:0030672)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ACCTTGAAGCGTCCCACAATG	0.642																																					GBM(102;732 1451 20652 24062 31372)	ENST00000272371.2																			0				NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106						c.(4354-4356)Cgc>Tgc		otoferlin							52	48	49					2																	26689975		2203	4300	6503	SO:0001583	missense	9381				cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis	basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane	calcium ion binding	g.chr2:26689975G>A	AF107403	CCDS1724.1, CCDS1725.1, CCDS1726.1, CCDS46241.1, CCDS74497.1	2p23.1	2014-06-27			ENSG00000115155	ENSG00000115155			8515	protein-coding gene	gene with protein product	"fer-1-like family member 2"	603681		DFNB9		10192385, 18381613	Standard	NM_194248		Approved	FER1L2, DFNB6	uc002rhk.3	Q9HC10	OTTHUMG00000096977	ENST00000272371.2:c.4354C>T	2.37:g.26689975G>A	ENSP00000272371:p.Arg1452Cys					OTOF_ENST00000402415.3_Missense_Mutation_p.R762C|OTOF_ENST00000403946.3_Missense_Mutation_p.R1452C|OTOF_ENST00000338581.6_Missense_Mutation_p.R685C|OTOF_ENST00000339598.3_Missense_Mutation_p.R685C	p.R1452C	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN			35	4480	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		1452					B4DJX0|B5MCC1|B9A0H6|Q53R90|Q9HC08|Q9HC09|Q9Y650	Missense_Mutation	SNP	ENST00000272371.2	37	c.4354C>T	CCDS1725.1	.	.	.	.	.	.	.	.	.	.	G	14.65	2.597730	0.46318	.	.	ENSG00000115155	ENST00000338581;ENST00000339598;ENST00000402415;ENST00000272371;ENST00000403946	T;T;T;T;T	0.80480	-1.13;-1.13;-1.12;-1.38;-1.38	4.69	-0.734	0.11140	.	0.045494	0.85682	D	0.000000	T	0.68504	0.3008	L	0.41236	1.265	0.80722	D	1	B;B;B;B	0.33171	0.397;0.026;0.4;0.026	B;B;B;B	0.20955	0.013;0.032;0.03;0.032	T	0.66172	-0.5990	10	0.59425	D	0.04	-20.9378	14.53	0.67917	0.0:0.0:0.3367:0.6633	.	1452;685;762;685	Q9HC10;Q9HC10-2;Q9HC10-3;Q9HC10-4	OTOF_HUMAN;.;.;.	C	685;685;762;1452;1452	ENSP00000345137:R685C;ENSP00000344521:R685C;ENSP00000383906:R762C;ENSP00000272371:R1452C;ENSP00000385255:R1452C	ENSP00000272371:R1452C	R	-	1	0	OTOF	26543479	0.984000	0.35163	0.971000	0.41717	0.920000	0.55202	0.944000	0.29043	0.077000	0.16863	0.561000	0.74099	CGC		0.642	OTOF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214047.3			21	58	0	0	0	1	0	21	58					A	26689975	G	A	26689975	3	1	305	1	0	0	0	0	1	0	0	0	11303	1145	40	1	1872	1	OTOF	2	26689975	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	1078873	26689975	216509398	137	14654											
OTOF	9381	broad.mit.edu	37	chr2	26741909	26741909	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cattgttgtcatcaatcagcGtgtcagtcacctccacatgg	9	12	8	12	1	5	0	5	0	0	0	6	0	6	0	2	1	1	1	2	1	1	2	rs555829802		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr2:26741909G>A	ENST00000272371.2	-	4	422	c.296C>T	c.(295-297)aCg>aTg	p.T99M	OTOF_ENST00000403946.3_Missense_Mutation_p.T99M	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN	otoferlin	99					membrane fusion (GO:0061025)|sensory perception of sound (GO:0007605)|synaptic vesicle exocytosis (GO:0016079)	cell junction (GO:0030054)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synaptic vesicle membrane (GO:0030672)	calcium ion binding (GO:0005509)	p.T99M(1)		NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ATCAATCAGCGTGTCAGTCAC	0.577																																					GBM(102;732 1451 20652 24062 31372)	ENST00000272371.2																			1	Substitution - Missense(1)	p.T99M(1)	lung(1)	NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106						c.(295-297)aCg>aTg		otoferlin							148	108	121					2																	26741909		2203	4300	6503	SO:0001583	missense	9381				cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis	basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane	calcium ion binding	g.chr2:26741909G>A	AF107403	CCDS1724.1, CCDS1725.1, CCDS1726.1, CCDS46241.1, CCDS74497.1	2p23.1	2014-06-27			ENSG00000115155	ENSG00000115155			8515	protein-coding gene	gene with protein product	"fer-1-like family member 2"	603681		DFNB9		10192385, 18381613	Standard	NM_194248		Approved	FER1L2, DFNB6	uc002rhk.3	Q9HC10	OTTHUMG00000096977	ENST00000272371.2:c.296C>T	2.37:g.26741909G>A	ENSP00000272371:p.Thr99Met					OTOF_ENST00000403946.3_Missense_Mutation_p.T99M	p.T99M	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN			4	422	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		99					B4DJX0|B5MCC1|B9A0H6|Q53R90|Q9HC08|Q9HC09|Q9Y650	Missense_Mutation	SNP	ENST00000272371.2	37	c.296C>T	CCDS1725.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.108460	0.77096	.	.	ENSG00000115155	ENST00000272371;ENST00000403946	T;T	0.72051	-0.62;-0.62	5.05	4.18	0.49190	C2 calcium/lipid-binding domain, CaLB (1);	0.050741	0.85682	D	0.000000	T	0.67135	0.2861	M	0.62723	1.935	0.51482	D	0.999924	B	0.19935	0.04	B	0.17098	0.017	T	0.66980	-0.5786	10	0.72032	D	0.01	-12.4287	11.8556	0.52435	0.0861:0.0:0.9139:0.0	.	99	Q9HC10	OTOF_HUMAN	M	99	ENSP00000272371:T99M;ENSP00000385255:T99M	ENSP00000272371:T99M	T	-	2	0	OTOF	26595413	1.000000	0.71417	0.973000	0.42090	0.985000	0.73830	6.844000	0.75390	1.262000	0.44165	0.563000	0.77884	ACG		0.577	OTOF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214047.3			4	6	0	0	0	1	0	4	6					A	26741909	G	A	26741909	3	1	305	1	0	0	0	0	1	0	0	0	11303	1145	40	1	6198	1	OTOF	2	26741909	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	51934	26741909	216457464	138	14655											
NRBP1	29959	broad.mit.edu	37	chr2	27658073	27658073	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccatcttcatccagcacaacGgactcatcaagattggctct	11	10	6	14	1	5	1	3	0	2	1	6	2	6	2	2	2	2	2	2	2	2	2			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr2:27658073G>A	ENST00000233557.3	+	8	1472	c.640G>A	c.(640-642)Gga>Aga	p.G214R	NRBP1_ENST00000379863.3_Missense_Mutation_p.G214R|NRBP1_ENST00000379852.3_Missense_Mutation_p.G214R			Q9UHY1	NRBP_HUMAN	nuclear receptor binding protein 1	214	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				ER to Golgi vesicle-mediated transport (GO:0006888)|gene expression (GO:0010467)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell projection (GO:0042995)|endomembrane system (GO:0012505)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|perinuclear region of cytoplasm (GO:0048471)	ATP binding (GO:0005524)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19	Acute lymphoblastic leukemia(172;0.155)					CCAGCACAACGGACTCATCAA	0.582																																						ENST00000233557.3																			0				central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19						c.(640-642)Gga>Aga		nuclear receptor binding protein 1							96	81	86					2																	27658073		2203	4300	6503	SO:0001583	missense	29959				ER to Golgi vesicle-mediated transport|gene expression|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cell cortex|endomembrane system|lamellipodium|membrane|nucleoplasm	ATP binding|protein homodimerization activity|protein kinase activity	g.chr2:27658073G>A	AF113249	CCDS1753.1	2p23	2008-02-05	2005-12-22	2005-12-22	ENSG00000115216	ENSG00000115216			7993	protein-coding gene	gene with protein product		606010	"nuclear receptor binding protein"	NRBP		10843813, 11956649	Standard	NM_013392		Approved	BCON3, MUDPNP, MADM	uc002rkp.3	Q9UHY1	OTTHUMG00000097789	ENST00000233557.3:c.640G>A	2.37:g.27658073G>A	ENSP00000233557:p.Gly214Arg					NRBP1_ENST00000379863.3_Missense_Mutation_p.G214R|NRBP1_ENST00000379852.3_Missense_Mutation_p.G214R	p.G214R			Q9UHY1	NRBP_HUMAN			8	1472	+	Acute lymphoblastic leukemia(172;0.155)		214			Protein kinase.		B3KV40|D6W558|Q53FZ5|Q96SU3	Missense_Mutation	SNP	ENST00000233557.3	37	c.640G>A	CCDS1753.1	.	.	.	.	.	.	.	.	.	.	G	25.8	4.672414	0.88348	.	.	ENSG00000115216	ENST00000233557;ENST00000421823;ENST00000379852;ENST00000379863	T;T;T	0.78246	-1.16;-1.16;-1.16	5.62	5.62	0.85841	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.91690	0.7373	H	0.95004	3.61	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.995	D	0.93592	0.6922	10	0.87932	D	0	-11.2068	18.1981	0.89829	0.0:0.0:1.0:0.0	.	214;214	F8W6G1;Q9UHY1	.;NRBP_HUMAN	R	214;194;214;214	ENSP00000233557:G214R;ENSP00000369181:G214R;ENSP00000369192:G214R	ENSP00000233557:G214R	G	+	1	0	NRBP1	27511577	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.725000	0.98778	2.637000	0.89404	0.655000	0.94253	GGA		0.582	NRBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215033.1	NM_013392		7	72	0	0	0	1	0	7	72					A	27658073	G	A	27658073	3	1	305	1	0	0	0	0	1	0	0	0	10642	1117	39	2	662	2	NRBP1	2	27658073	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	916164	27658073	215541300	139	14656											
IFT172	26160	broad.mit.edu	37	chr2	27688651	27688651	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcaatggctgttccaaactcGatgaggccctcatccaatgt	10	11	8	12	1	2	1	2	1	0	0	5	2	4	1	3	2	1	2	3	2	3	1			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr2:27688651G>A	ENST00000260570.3	-	17	1894	c.1791C>T	c.(1789-1791)atC>atT	p.I597I		NM_015662.1	NP_056477.1	Q9UG01	IF172_HUMAN	intraflagellar transport 172	597					bone development (GO:0060348)|brain development (GO:0007420)|cilium assembly (GO:0042384)|cytoplasmic microtubule organization (GO:0031122)|dorsal/ventral pattern formation (GO:0009953)|epidermis development (GO:0008544)|heart looping (GO:0001947)|hindgut development (GO:0061525)|left/right axis specification (GO:0070986)|limb development (GO:0060173)|negative regulation of epithelial cell proliferation (GO:0050680)|neural tube closure (GO:0001843)|Notch signaling pathway (GO:0007219)|palate development (GO:0060021)|positive regulation of smoothened signaling pathway (GO:0045880)|protein processing (GO:0016485)|smoothened signaling pathway (GO:0007224)|spinal cord motor neuron differentiation (GO:0021522)	axoneme (GO:0005930)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|intraciliary transport particle B (GO:0030992)|sperm midpiece (GO:0097225)|sperm principal piece (GO:0097228)|vesicle (GO:0031982)				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(17)|lung(17)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	43	Acute lymphoblastic leukemia(172;0.155)					TTCCAAACTCGATGAGGCCCT	0.552																																						ENST00000260570.3																			0				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(17)|lung(17)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	43						c.(1789-1791)atC>atT		intraflagellar transport 172 homolog (Chlamydomonas)							388	367	374					2																	27688651		2203	4300	6503	SO:0001819	synonymous_variant	26160				cilium assembly	cilium	binding	g.chr2:27688651G>A	AB033005	CCDS1755.1	2p23.3	2014-07-03	2014-07-03		ENSG00000138002	ENSG00000138002		"Intraflagellar transport homologs", "WD repeat domain containing"	30391	protein-coding gene	gene with protein product	"wimple homolog"	607386	"intraflagellar transport 172 homolog (Chlamydomonas)"			10788441, 10574461, 24140113	Standard	XM_005264254		Approved	SLB, wim, osm-1, NPHP17	uc002rku.3	Q9UG01	OTTHUMG00000128425	ENST00000260570.3:c.1791C>T	2.37:g.27688651G>A							p.I597I	NM_015662.1	NP_056477.1	Q9UG01	IF172_HUMAN			17	1894	-	Acute lymphoblastic leukemia(172;0.155)		597					A5PKZ0|B2RNU5|Q86X44|Q96HW4|Q9UFJ9|Q9ULP1	Silent	SNP	ENST00000260570.3	37	c.1791C>T	CCDS1755.1																																																																																				0.552	IFT172-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250213.2	NM_015662		197	418	0	0	0	1	0	197	418					A	27688651	G	A	27688651	2	1	305	1	0	0	0	0	0	0	0	1	7557	1048	37	2		2	IFT172	2	27688651	Silent	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	30578	27688651	215510722	140	14657											
ABCG8	64241	broad.mit.edu	37	chr2	44100941	44100941	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttaagtcgtcagatttccaaCgacttccgagacctgcccac	10	10	7	14	3	1	2	1	0	0	2	4	4	3	2	4	0	2	0	4	0	2	3			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr2:44100941C>T	ENST00000272286.2	+	9	1317	c.1227C>T	c.(1225-1227)aaC>aaT	p.N409N		NM_022437.2	NP_071882.1	Q9H221	ABCG8_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 8	409					ATP catabolic process (GO:0006200)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|excretion (GO:0007588)|intestinal cholesterol absorption (GO:0030299)|negative regulation of intestinal cholesterol absorption (GO:0045796)|negative regulation of intestinal phytosterol absorption (GO:0010949)|phospholipid transport (GO:0015914)|response to drug (GO:0042493)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)|sterol transport (GO:0015918)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|protein heterodimerization activity (GO:0046982)|sterol transporter activity (GO:0015248)			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(21)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)			Ezetimibe(DB00973)	AGATTTCCAACGACTTCCGAG	0.542																																						ENST00000272286.2																			0				NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(21)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45						c.(1225-1227)aaC>aaT		ATP-binding cassette, sub-family G (WHITE), member 8							179	177	178					2																	44100941		2203	4300	6503	SO:0001819	synonymous_variant	64241				cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption	apical plasma membrane|integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity	g.chr2:44100941C>T	AF320294	CCDS1815.1	2p21	2012-03-14	2008-07-31		ENSG00000143921	ENSG00000143921		"ATP binding cassette transporters / subfamily G"	13887	protein-coding gene	gene with protein product	"gallbladder disease 4", "sterolin 2"	605460	"ATP-binding cassette, sub-family G (WHITE), member 8 (sterolin 2)"			11099417, 17626266	Standard	NM_022437		Approved	GBD4	uc002rtq.3	Q9H221	OTTHUMG00000128756	ENST00000272286.2:c.1227C>T	2.37:g.44100941C>T							p.N409N	NM_022437.2	NP_071882.1	Q9H221	ABCG8_HUMAN			9	1317	+		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	409					Q53QN8	Silent	SNP	ENST00000272286.2	37	c.1227C>T	CCDS1815.1																																																																																				0.542	ABCG8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250671.1	NM_022437		54	98	0	0	0	1	0	54	98					T	44100941	C	T	44100941	2	4	305	1	0	0	0	0	0	0	0	1	72	535	19	1		1	ABCG8	2	44100941	Silent	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	16412290	44100941	199098432	141	14658											
SPTBN1	6711	broad.mit.edu	37	chr2	54876764	54876764	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cgtttcagatgttacaagaaCgattccgggagtttgcccga	10	11	11	9	4	1	2	1	0	0	2	2	5	2	3	2	1	3	3	2	1	3	4			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr2:54876764C>T	ENST00000356805.4	+	26	5496	c.5215C>T	c.(5215-5217)Cga>Tga	p.R1739*	SPTBN1_ENST00000333896.5_Nonsense_Mutation_p.R1726*	NM_003128.2	NP_003119.2	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1	1739	Interaction with ANK2.				actin filament capping (GO:0051693)|axon guidance (GO:0007411)|Golgi to plasma membrane protein transport (GO:0043001)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|plasma membrane organization (GO:0007009)|protein targeting to plasma membrane (GO:0072661)	axolemma (GO:0030673)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|protein complex (GO:0043234)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin binding (GO:0003779)|ankyrin binding (GO:0030506)|phospholipid binding (GO:0005543)|poly(A) RNA binding (GO:0044822)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	82			Lung(47;0.24)			GTTACAAGAACGATTCCGGGA	0.498																																						ENST00000333896.5																			0				NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	82						c.(5176-5178)Cga>Tga		spectrin, beta, non-erythrocytic 1							47	48	48					2																	54876764		2203	4300	6503	SO:0001587	stop_gained	0				actin filament capping|axon guidance	cytosol|nucleolus|plasma membrane|sarcomere|spectrin	actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton	g.chr2:54876764C>T		CCDS33198.1, CCDS33199.1	2p21	2013-01-10			ENSG00000115306	ENSG00000115306		"Pleckstrin homology (PH) domain containing"	11275	protein-coding gene	gene with protein product		182790					Standard	NM_003128		Approved		uc002rxu.3	Q01082	OTTHUMG00000133746	ENST00000356805.4:c.5215C>T	2.37:g.54876764C>T	ENSP00000349259:p.Arg1739*					SPTBN1_ENST00000356805.4_Nonsense_Mutation_p.R1739*	p.R1726*	NM_178313.2	NP_842565.2	Q01082	SPTB2_HUMAN	Lung(47;0.24)		25	5561	+			1739			Interaction with ANK2.		B2RP63|O60837|Q16057|Q53R99|Q59ER3|Q8IX99	Nonsense_Mutation	SNP	ENST00000356805.4	37	c.5176C>T	CCDS33198.1	.	.	.	.	.	.	.	.	.	.	C	48	14.324926	0.99790	.	.	ENSG00000115306	ENST00000356805;ENST00000333896	.	.	.	5.76	3.84	0.44239	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07175	T	0.84	.	14.7963	0.69881	0.2627:0.7373:0.0:0.0	.	.	.	.	X	1739;1726	.	ENSP00000334156:R1726X	R	+	1	2	SPTBN1	54730268	1.000000	0.71417	0.999000	0.59377	0.976000	0.68499	3.821000	0.55700	1.381000	0.46364	0.555000	0.69702	CGA		0.498	SPTBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258115.3			4	17	0	0	0	1	0	4	17					T	54876764	C	T	54876764	4	4	305	1	0	0	0	0	0	1	0	0	15118	528	19	1	5426	1	SPTBN1	2	54876764	Nonsense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	10775823	54876764	188322609	142	14659											
RPS27A	6233	broad.mit.edu	37	chr2	55462017	55462019	+	In_Frame_Del	DEL	GAA	GAA	-																															cgtggtggtgctaagaaaagGaagaagaagtcttacaccac																										TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr2:55462017_55462019delGAA	ENST00000272317.6	+	5	564_566	c.240_242delGAA	c.(238-243)aggaag>agg	p.K83del	CLHC1_ENST00000494539.1_5'Flank|RPS27A_ENST00000404735.1_In_Frame_Del_p.K83del|CLHC1_ENST00000407122.1_5'Flank|RPS27A_ENST00000402285.3_In_Frame_Del_p.K83del|CLHC1_ENST00000401408.1_5'Flank|CLHC1_ENST00000406437.2_5'Flank|CLHC1_ENST00000406076.1_5'Flank	NM_002954.5	NP_002945.1	P62979	RS27A_HUMAN	ribosomal protein S27a	83	Lys-rich (highly basic).				activation of MAPK activity (GO:0000187)|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|cellular response to hypoxia (GO:0071456)|cytokine-mediated signaling pathway (GO:0019221)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|endosomal transport (GO:0016197)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|intracellular transport of virus (GO:0075733)|ion transmembrane transport (GO:0034220)|JNK cascade (GO:0007254)|membrane organization (GO:0061024)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of type I interferon production (GO:0032480)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of apoptotic process (GO:0043065)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of type I interferon production (GO:0032479)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|stress-activated MAPK cascade (GO:0051403)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|transmembrane transport (GO:0055085)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral protein processing (GO:0019082)|viral transcription (GO:0019083)|virion assembly (GO:0019068)	cytosol (GO:0005829)|cytosolic small ribosomal subunit (GO:0022627)|endocytic vesicle membrane (GO:0030666)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|small ribosomal subunit (GO:0015935)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			cervix(1)|ovary(1)|urinary_tract(1)	3						CTAAGAAAAGGAAGAAGAAGTCT	0.419																																						ENST00000272317.6																			0				cervix(1)|ovary(1)|urinary_tract(1)	3						c.(238-243)agg>ag		ribosomal protein S27a																																				SO:0001651	inframe_deletion	6233				activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endocrine pancreas development|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane	metal ion binding|structural constituent of ribosome	g.chr2:55462017_55462019delGAA	AB007163	CCDS33202.1	2p16	2011-04-06			ENSG00000143947	ENSG00000143947		"S ribosomal proteins"	10417	protein-coding gene	gene with protein product	"ubiquitin carboxyl extension protein 80"	191343				9582194	Standard	NM_001135592		Approved	UBCEP80, Uba80, S27A	uc010yow.2	P62979	OTTHUMG00000151919	ENST00000272317.6:c.240_242delGAA	2.37:g.55462023_55462025delGAA	ENSP00000272317:p.Lys83del					RPS27A_ENST00000404735.1_In_Frame_Del_p.RK80del|RPS27A_ENST00000402285.3_In_Frame_Del_p.RK80del	p.RK80del	NM_002954.5	NP_002945.1	P62979	RS27A_HUMAN			5	564_566	+			80			Lys-rich (highly basic).		P02248|P02249|P02250|P14798|P62988|Q29120|Q6LBL4|Q6LDU5|Q8WYN8|Q91887|Q91888|Q9BQ77|Q9BWD6|Q9BX98|Q9UEF2|Q9UEG1|Q9UEK8|Q9UPK7	In_Frame_Del	DEL	ENST00000272317.6	37	c.240_242delGAA	CCDS33202.1																																																																																				0.419	RPS27A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324423.15			10	17						10	17	---	---	---	---	-	55462019	GAA	-	55462017	7	5	305	1	0	1	0	1	0	0	0	0	13639	1165	41	0	254	0	RPS27A	2	55462017	In_Frame_Del	DEL	GAA	TCGA-KK-A59V-01A-11D-A29Q-08	585253	55462017	187737356	143	14660											
PUS10	150962	broad.mit.edu	37	chr2	61175177	61175177	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtgcagcaggtggaaggataCgtgccagcctgagttttcaa	10	9	14	8	1	1	1	1	1	0	0	1	3	1	3	2	3	5	3	2	3	3	3			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr2:61175177C>T	ENST00000316752.6	-	16	1713		c.e16+1		PUS10_ENST00000407787.1_Splice_Site	NM_144709.2	NP_653310.2	Q3MIT2	PUS10_HUMAN	pseudouridylate synthase 10						pseudouridine synthesis (GO:0001522)|tRNA processing (GO:0008033)		pseudouridine synthase activity (GO:0009982)|RNA binding (GO:0003723)			breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)	22			LUSC - Lung squamous cell carcinoma(5;1.56e-06)|Lung(5;2.48e-05)|Epithelial(17;0.113)			TGGAAGGATACGTGCCAGCCT	0.552																																						ENST00000316752.6																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)	22						c.e16+1		pseudouridylate synthase 10							150	150	150					2																	61175177		2203	4300	6503	SO:0001630	splice_region_variant	150962				pseudouridine synthesis|tRNA processing		pseudouridine synthase activity|RNA binding	g.chr2:61175177C>T	AK056874	CCDS1865.1	2p16.1	2008-02-05	2008-01-09	2008-01-09	ENSG00000162927	ENSG00000162927			26505	protein-coding gene	gene with protein product		612787	"coiled-coil domain containing 139"	CCDC139		17900615	Standard	NM_144709		Approved	FLJ32312	uc002sao.3	Q3MIT2	OTTHUMG00000129423	ENST00000316752.6:c.1451+1G>A	2.37:g.61175177C>T						PUS10_ENST00000407787.1_Splice_Site		NM_144709.2	NP_653310.2	Q3MIT2	PUS10_HUMAN	LUSC - Lung squamous cell carcinoma(5;1.56e-06)|Lung(5;2.48e-05)|Epithelial(17;0.113)		16	1713	-								Q5JPJ5|Q96MI8	Splice_Site	SNP	ENST00000316752.6	37		CCDS1865.1	.	.	.	.	.	.	.	.	.	.	C	22.2	4.255360	0.80135	.	.	ENSG00000162927	ENST00000316752;ENST00000407787	.	.	.	5.72	5.72	0.89469	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.2406	0.98372	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PUS10	61028681	1.000000	0.71417	1.000000	0.80357	0.653000	0.38743	7.445000	0.80570	2.857000	0.98124	0.650000	0.86243	.		0.552	PUS10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251582.2	NM_144709	Intron	30	113	0	0	0	1	0	30	113					T	61175177	C	T	61175177	5	4	305	1	0	0	0	0	0	0	1	0	12831	550	19	1	149	1	PUS10	2	61175177	Splice_Site	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	5713160	61175177	182024196	144	14661											
ATP6V1B1	525	broad.mit.edu	37	chr2	71187196	71187196	+	Frame_Shift_Del	DEL	C	C	-																															atcttctcagcagccgggctCccccacaatgaggtgaggcc																										TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr2:71187196delC	ENST00000234396.4	+	6	646	c.573delC	c.(571-573)ctcfs	p.L191fs	AC007040.11_ENST00000606025.1_Intron|ATP6V1B1_ENST00000412314.1_Frame_Shift_Del_p.L191fs	NM_001692.3	NP_001683.2	P15313	VATB1_HUMAN	ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B1	191					ATP hydrolysis coupled proton transport (GO:0015991)|ATP metabolic process (GO:0046034)|calcium ion homeostasis (GO:0055074)|cellular iron ion homeostasis (GO:0006879)|excretion (GO:0007588)|inner ear morphogenesis (GO:0042472)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|ossification (GO:0001503)|pH reduction (GO:0045851)|phagosome maturation (GO:0090382)|proton transport (GO:0015992)|regulation of pH (GO:0006885)|sensory perception of sound (GO:0007605)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lateral plasma membrane (GO:0016328)|microvillus (GO:0005902)|proton-transporting V-type ATPase, V1 domain (GO:0033180)|vacuolar proton-transporting V-type ATPase complex (GO:0016471)	ATP binding (GO:0005524)|hydrogen ion transmembrane transporter activity (GO:0015078)|hydrolase activity, acting on acid anhydrides, catalyzing transmembrane movement of substances (GO:0016820)			endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|prostate(1)|skin(1)	19						CAGCCGGGCTCCCCCACAATG	0.622																																						ENST00000234396.4																			0				endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|prostate(1)|skin(1)	19						c.(571-573)ctfs		ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B1							40	42	42					2																	71187196		2203	4300	6503	SO:0001589	frameshift_variant	525				ATP hydrolysis coupled proton transport|calcium ion homeostasis|cellular iron ion homeostasis|excretion|inner ear morphogenesis|insulin receptor signaling pathway|ossification|pH reduction|sensory perception of sound|transferrin transport	apical plasma membrane|basolateral plasma membrane|cytosol|endomembrane system|lateral plasma membrane|microvillus|proton-transporting V-type ATPase, V1 domain|vacuolar proton-transporting V-type ATPase complex	ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism	g.chr2:71187196delC	AF107466	CCDS1912.1	2p13	2010-04-21	2008-07-31	2002-05-10	ENSG00000116039	ENSG00000116039	3.6.3.14	"ATPases / V-type"	853	protein-coding gene	gene with protein product	"Renal tubular acidosis with deafness"	192132	"vacuolar proton pump 3"	VPP3, ATP6B1		9916796, 2527371	Standard	XM_005264368		Approved	VATB, RTA1B, Vma2	uc002shj.3	P15313	OTTHUMG00000129711	ENST00000234396.4:c.573delC	2.37:g.71187196delC	ENSP00000234396:p.Leu191fs					ATP6V1B1_ENST00000412314.1_Frame_Shift_Del_p.L191fs|AC007040.11_ENST00000606025.1_Intron	p.L191fs	NM_001692.3	NP_001683.2	P15313	VATB1_HUMAN			6	646	+			191					Q53FY0|Q6P4H6	Frame_Shift_Del	DEL	ENST00000234396.4	37	c.573delC	CCDS1912.1																																																																																				0.622	ATP6V1B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251920.2	NM_001692		25	58						25	58	---	---	---	---	-	71187196	C	-	71187196	7	5	305	1	0	1	0	1	0	0	0	0	1178	842	30	0	595	0	ATP6V1B1	2	71187196	Frame_Shift_Del	DEL	C	TCGA-KK-A59V-01A-11D-A29Q-08	10012019	71187196	172012177	145	14662											
RAB11FIP5	26056	broad.mit.edu	37	chr2	73316367	73316367	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actggcgctcaggttgttgcGcgtgaactggatggtgactt	6	12	15	8	3	1	2	1	2	0	0	1	3	1	3	0	4	2	3	0	4	1	3	rs374041276		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr2:73316367G>A	ENST00000258098.6	-	2	748	c.508C>T	c.(508-510)Cgc>Tgc	p.R170C	RAB11FIP5_ENST00000493523.2_5'UTR	NM_015470.2	NP_056285.1	Q9BXF6	RFIP5_HUMAN	RAB11 family interacting protein 5 (class I)	170					cellular response to acidic pH (GO:0071468)|insulin secretion involved in cellular response to glucose stimulus (GO:0035773)|protein transport (GO:0015031)|regulated secretory pathway (GO:0045055)|regulation of protein localization to cell surface (GO:2000008)	early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|microtubule organizing center (GO:0005815)|mitochondrial outer membrane (GO:0005741)|recycling endosome (GO:0055037)|secretory granule (GO:0030141)	gamma-tubulin binding (GO:0043015)			biliary_tract(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	23						AGGTTGTTGCGCGTGAACTGG	0.537																																						ENST00000258098.6																			0				biliary_tract(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	23						c.(508-510)Cgc>Tgc		RAB11 family interacting protein 5 (class I)		G	CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	329	319	323		508	4.6	1	2		323	0,8600		0,0,4300	no	missense	RAB11FIP5	NM_015470.2	180	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	170/654	73316367	1,13005	2203	4300	6503	SO:0001583	missense	26056				protein transport	mitochondrial outer membrane|recycling endosome membrane	gamma-tubulin binding	g.chr2:73316367G>A	AF334812	CCDS1923.1	2p13	2008-02-05			ENSG00000135631	ENSG00000135631			24845	protein-coding gene	gene with protein product		605536				10048485, 11163216	Standard	NM_015470		Approved	GAF1, KIAA0857, RIP11, pp75	uc002sis.4	Q9BXF6	OTTHUMG00000129779	ENST00000258098.6:c.508C>T	2.37:g.73316367G>A	ENSP00000258098:p.Arg170Cys					RAB11FIP5_ENST00000493523.2_5'UTR	p.R170C	NM_015470.2	NP_056285.1	Q9BXF6	RFIP5_HUMAN			2	748	-			170					O94939|Q9P0M1	Missense_Mutation	SNP	ENST00000258098.6	37	c.508C>T	CCDS1923.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.991857	0.74703	2.27E-4	0.0	ENSG00000135631	ENST00000258098	T	0.33654	1.4	4.6	4.6	0.57074	C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	T	0.61825	0.2378	M	0.78049	2.395	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.997;0.999	T	0.66408	-0.5931	10	0.66056	D	0.02	-18.9627	16.5264	0.84332	0.0:0.0:1.0:0.0	.	170;170	Q9BXF6;Q2Z1P3	RFIP5_HUMAN;.	C	170	ENSP00000258098:R170C	ENSP00000258098:R170C	R	-	1	0	RAB11FIP5	73169875	1.000000	0.71417	0.956000	0.39512	0.937000	0.57800	3.106000	0.50322	2.570000	0.86706	0.561000	0.74099	CGC		0.537	RAB11FIP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251995.1	NM_015470		14	331	0	0	0	1	0	14	331					A	73316367	G	A	73316367	3	1	305	1	0	0	0	0	1	0	0	0	12897	1087	38	1	1469	1	RAB11FIP5	2	73316367	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	2129171	73316367	169883006	146	14663											
ALMS1	7840	broad.mit.edu	37	chr2	73677817	73677817	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcacaacatacagagaagcCgagtattttctaccaacagt	15	9	6	11	1	2	1	1	0	1	1	2	3	2	1	2	0	5	1	2	0	6	5	rs377354387		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr2:73677817C>T	ENST00000264448.6	+	8	4271	c.4160C>T	c.(4159-4161)cCg>cTg	p.P1387L	ALMS1_ENST00000377715.1_Missense_Mutation_p.P1387L|ALMS1_ENST00000409009.1_Missense_Mutation_p.P1345L	NM_015120.4	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	1387	34 X 47 AA approximate tandem repeat.				endosomal transport (GO:0016197)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of stress fiber assembly (GO:0051492)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						ACAGAGAAGCCGAGTATTTTC	0.473																																						ENST00000264448.6																			0				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						c.(4159-4161)cCg>cTg		Alstrom syndrome 1		C	LEU/PRO	0,3726		0,0,1863	85	88	87		4160	0.8	0	2		87	1,8201		0,1,4100	no	missense	ALMS1	NM_015120.4	98	0,1,5963	TT,TC,CC		0.0122,0.0,0.0084	benign	1387/4168	73677817	1,11927	1863	4101	5964	SO:0001583	missense	7840				G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole		g.chr2:73677817C>T	AB002326	CCDS42697.1	2p13.1	2014-09-17			ENSG00000116127	ENSG00000116127			428	protein-coding gene	gene with protein product		606844				9063741	Standard	NM_015120		Approved	KIAA0328	uc002sje.1	Q8TCU4	OTTHUMG00000152812	ENST00000264448.6:c.4160C>T	2.37:g.73677817C>T	ENSP00000264448:p.Pro1387Leu					ALMS1_ENST00000409009.1_Missense_Mutation_p.P1345L|ALMS1_ENST00000377715.1_Missense_Mutation_p.P1387L	p.P1387L	NM_015120.4	NP_055935.4	Q8TCU4	ALMS1_HUMAN			8	4271	+			1387			34 X 47 AA approximate tandem repeat.		Q53S05|Q580Q8|Q86VP9|Q9Y4G4	Missense_Mutation	SNP	ENST00000264448.6	37	c.4160C>T	CCDS42697.1	.	.	.	.	.	.	.	.	.	.	C	10.81	1.454697	0.26161	0.0	1.22E-4	ENSG00000116127	ENST00000409009;ENST00000264448;ENST00000377715	T;T;T	0.26810	2.6;2.59;1.71	3.65	0.766	0.18476	.	.	.	.	.	T	0.18467	0.0443	L	0.57536	1.79	0.09310	N	1	P;P;P	0.42456	0.78;0.78;0.78	B;B;B	0.31547	0.132;0.132;0.132	T	0.16571	-1.0398	9	0.66056	D	0.02	.	4.6111	0.12402	0.363:0.528:0.0:0.1089	.	1387;1345;1387	Q8TCU4-3;B8ZZJ3;Q8TCU4	.;.;ALMS1_HUMAN	L	1345;1387;1387	ENSP00000386627:P1345L;ENSP00000264448:P1387L;ENSP00000366944:P1387L	ENSP00000264448:P1387L	P	+	2	0	ALMS1	73531325	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.018000	0.12568	0.133000	0.18654	0.436000	0.28706	CCG		0.473	ALMS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000327776.1	NM_015120		44	111	0	0	0	1	0	44	111					T	73677817	C	T	73677817	3	4	305	1	0	0	0	0	1	0	0	0	535	652	23	2	4190	2	ALMS1	2	73677817	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	361450	73677817	169521556	147	14664											
DCTN1	1639	broad.mit.edu	37	chr2	74605228	74605228	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttgcttcatccagaatcaCgcctacccatttgccagtgg	8	12	7	14	1	2	1	2	0	0	1	3	1	3	1	4	1	3	1	4	1	2	4	rs74768853		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr2:74605228C>T	ENST00000361874.3	-	2	495	c.178G>A	c.(178-180)Gtg>Atg	p.V60M	DCTN1_ENST00000409567.3_Missense_Mutation_p.V60M|DCTN1_ENST00000409868.1_Missense_Mutation_p.V43M|DCTN1_ENST00000409240.1_Missense_Mutation_p.V43M|DCTN1_ENST00000394003.3_Missense_Mutation_p.V60M	NM_004082.4	NP_004073.2	Q14203	DCTN1_HUMAN	dynactin 1	60	CAP-Gly. {ECO:0000255|PROSITE- ProRule:PRU00045}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|G2/M transition of mitotic cell cycle (GO:0000086)|melanosome transport (GO:0032402)|microtubule-based transport (GO:0010970)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|nervous system development (GO:0007399)	cell leading edge (GO:0031252)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dynactin complex (GO:0005869)|dynein complex (GO:0030286)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|spindle pole (GO:0000922)	motor activity (GO:0003774)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(1)|skin(3)	45						TCCAGAATCACGCCTACCCAT	0.532																																						ENST00000361874.3																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(1)|skin(3)	45						c.(178-180)Gtg>Atg		dynactin 1							198	157	171					2																	74605228		2203	4300	6503	SO:0001583	missense	1639				cell death|G2/M transition of mitotic cell cycle|mitosis|nervous system development	centrosome|cytosol|kinetochore|microtubule|spindle pole	motor activity|protein binding	g.chr2:74605228C>T		CCDS1939.1, CCDS46341.1, CCDS46342.1, CCDS54368.1, CCDS54369.1	2p13	2014-09-17	2010-06-24		ENSG00000204843	ENSG00000204843			2711	protein-coding gene	gene with protein product	"p150 glued homolog (Drosophila)"	601143	"dynactin 1 (p150, Glued (Drosophila) homolog)"			1828535	Standard	NM_001190836		Approved		uc002skx.3	Q14203	OTTHUMG00000129963	ENST00000361874.3:c.178G>A	2.37:g.74605228C>T	ENSP00000354791:p.Val60Met					DCTN1_ENST00000409567.3_Missense_Mutation_p.V60M|DCTN1_ENST00000409868.1_Missense_Mutation_p.V43M|DCTN1_ENST00000394003.3_Missense_Mutation_p.V60M|DCTN1_ENST00000409240.1_Missense_Mutation_p.V43M	p.V60M	NM_004082.4	NP_004073.2	Q14203	DCTN1_HUMAN			2	495	-			60			CAP-Gly.		A8MY36|B4DM45|E9PFS5|E9PGE1|G5E9H4|O95296|Q6IQ37|Q9BRM9|Q9UIU1|Q9UIU2	Missense_Mutation	SNP	ENST00000361874.3	37	c.178G>A	CCDS1939.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.240223	0.79912	.	.	ENSG00000204843	ENST00000361874;ENST00000394003;ENST00000393999;ENST00000409240;ENST00000409868;ENST00000409567;ENST00000458655;ENST00000454119;ENST00000417090;ENST00000437375;ENST00000413111;ENST00000421392;ENST00000440727	D;D;D;D;D;D;D;D;D;D;D;D	0.84516	-1.86;-1.86;-1.86;-1.86;-1.86;-1.86;-1.86;-1.86;-1.86;-1.86;-1.86;-1.86	5.14	5.14	0.70334	Cytoskeleton-associated protein, Gly-rich domain (4);Cytoskeleton-associated protein, Gly-rich conserved site (1);	0.000000	0.39083	N	0.001478	D	0.95367	0.8496	H	0.97587	4.035	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;0.982;1.0	D;D;P;D	0.97110	1.0;0.999;0.829;0.993	D	0.97121	0.9811	10	0.87932	D	0	-11.0461	17.3563	0.87336	0.0:1.0:0.0:0.0	.	60;43;60;60	E9PGE1;E9PFS5;Q14203;A8MY36	.;.;DCTN1_HUMAN;.	M	60;60;43;43;43;60;67;43;64;43;43;43;43	ENSP00000354791:V60M;ENSP00000377571:V60M;ENSP00000386406:V43M;ENSP00000387327:V43M;ENSP00000386843:V60M;ENSP00000414315:V67M;ENSP00000404038:V43M;ENSP00000402509:V64M;ENSP00000395312:V43M;ENSP00000413268:V43M;ENSP00000409363:V43M;ENSP00000400059:V43M	ENSP00000354791:V60M	V	-	1	0	DCTN1	74458736	1.000000	0.71417	1.000000	0.80357	0.857000	0.48899	5.985000	0.70556	2.392000	0.81423	0.455000	0.32223	GTG		0.532	DCTN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252227.3	NM_004082		18	59	0	0	0	1	0	18	59					T	74605228	C	T	74605228	3	4	305	1	0	0	0	0	1	0	0	0	4306	536	19	1	3794	1	DCTN1	2	74605228	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	927411	74605228	168594145	148	14665											
FAM176A	84141	broad.mit.edu	37	chr2	75745250	75745250	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccacgtgctctgggctgtggCtgaggggcagcctcatggga	5	8	17	11	1	2	1	1	1	1	0	2	2	2	2	2	5	2	4	2	5	0	0			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr2:75745250C>T	ENST00000233712.1	-	3	454	c.17G>A	c.(16-18)aGc>aAc	p.S6N	EVA1A_ENST00000393913.3_Missense_Mutation_p.S6N|EVA1A_ENST00000410071.1_Missense_Mutation_p.S6N|EVA1A_ENST00000490746.1_5'UTR|EVA1A_ENST00000410010.1_5'Flank|EVA1A_ENST00000410113.1_Missense_Mutation_p.S6N	NM_032181.2	NP_115557.1	Q9H8M9	EVA1A_HUMAN	eva-1 homolog A (C. elegans)	6	Necessary for the localization and biological activity.				apoptotic process (GO:0006915)|autophagy (GO:0006914)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|lysosome (GO:0005764)|plasma membrane (GO:0005886)											TGGGCTGTGGCTGAGGGGCAG	0.567																																						ENST00000233712.1																			0											c.(16-18)aGc>aAc		eva-1 homolog A (C. elegans)							96	88	91					2																	75745250		2203	4300	6503	SO:0001583	missense	84141							g.chr2:75745250C>T	BC016157	CCDS1959.1	2p12	2012-11-05	2012-11-05	2012-11-05	ENSG00000115363	ENSG00000115363			25816	protein-coding gene	gene with protein product			"transmembrane protein 166", "family with sequence similarity 176, member A"	TMEM166, FAM176A		12477932	Standard	NM_001135032		Approved	FLJ13391	uc002sni.2	Q9H8M9	OTTHUMG00000129991	ENST00000233712.1:c.17G>A	2.37:g.75745250C>T	ENSP00000233712:p.Ser6Asn					EVA1A_ENST00000393913.3_Missense_Mutation_p.S6N|EVA1A_ENST00000410071.1_Missense_Mutation_p.S6N|EVA1A_ENST00000410113.1_Missense_Mutation_p.S6N|EVA1A_ENST00000490746.1_5'UTR	p.S6N	NM_032181.2	NP_115557.1					3	454	-								D6W5J3|Q9HC41	Missense_Mutation	SNP	ENST00000233712.1	37	c.17G>A	CCDS1959.1	.	.	.	.	.	.	.	.	.	.	C	13.07	2.126515	0.37533	.	.	ENSG00000115363	ENST00000393913;ENST00000233712;ENST00000410113;ENST00000410071;ENST00000432649;ENST00000452003	T;T;T;T	0.45276	0.9;0.9;0.9;0.9	4.71	0.774	0.18521	.	1.290870	0.04989	N	0.467013	T	0.23133	0.0559	N	0.12182	0.205	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.17349	-1.0372	10	0.24483	T	0.36	0.7398	3.9258	0.09263	0.0:0.5231:0.1786:0.2983	.	6	Q9H8M9	F176A_HUMAN	N	6	ENSP00000377490:S6N;ENSP00000233712:S6N;ENSP00000386435:S6N;ENSP00000386930:S6N	ENSP00000233712:S6N	S	-	2	0	FAM176A	75598758	0.080000	0.21391	0.009000	0.14445	0.321000	0.28281	-0.114000	0.10757	0.256000	0.21614	0.543000	0.68304	AGC		0.567	EVA1A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328707.1	NM_032181		11	52	0	0	0	1	0	11	52					T	75745250	C	T	75745250	3	4	305	1	0	0	0	0	1	0	0	0	5499	797	28	3	449	3	FAM176A	2	75745250	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	1140022	75745250	167454123	149	14666											
VAMP5	10791	broad.mit.edu	37	chr2	85818986	85818986	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cagaccaactcctggatatgGtgtgaggcctgggggagcat	9	8	15	9	0	0	2	0	1	0	1	1	4	1	4	3	5	2	1	3	5	2	1			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr2:85818986G>A	ENST00000306384.4	+	2	224		c.e2+1			NM_006634.2	NP_006625.1	O95183	VAMP5_HUMAN	vesicle-associated membrane protein 5						cell differentiation (GO:0030154)|Golgi to plasma membrane protein transport (GO:0043001)|muscle organ development (GO:0007517)|skeletal muscle tissue development (GO:0007519)	cell surface (GO:0009986)|cytoplasmic vesicle membrane (GO:0030659)|extracellular vesicular exosome (GO:0070062)|integral component of organelle membrane (GO:0031301)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|late endosome (GO:0005770)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)				NS(1)|large_intestine(3)|lung(1)	5						CCTGGATATGGTGTGAGGCCT	0.567																																						ENST00000306384.4																			0				NS(1)|large_intestine(3)|lung(1)	5						c.e2+1		vesicle-associated membrane protein 5							110	101	104					2																	85818986		2203	4300	6503	SO:0001630	splice_region_variant	10791				cell differentiation|vesicle-mediated transport	endomembrane system		g.chr2:85818986G>A	AF054825	CCDS1980.1	2p11.2	2013-02-13	2012-10-17		ENSG00000168899	ENSG00000168899		"Vesicle-associated membrane proteins"	12646	protein-coding gene	gene with protein product	"myobrevin"	607029				9725904	Standard	NM_006634		Approved		uc002spu.1	O95183	OTTHUMG00000130169	ENST00000306384.4:c.141+1G>A	2.37:g.85818986G>A								NM_006634.2	NP_006625.1	O95183	VAMP5_HUMAN			2	224	+								Q9P0T2	Splice_Site	SNP	ENST00000306384.4	37		CCDS1980.1	.	.	.	.	.	.	.	.	.	.	G	16.39	3.108644	0.56291	.	.	ENSG00000168899	ENST00000306384	.	.	.	4.84	4.84	0.62591	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.4194	0.60987	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	VAMP5	85672497	1.000000	0.71417	1.000000	0.80357	0.775000	0.43874	5.385000	0.66231	2.240000	0.73641	0.561000	0.74099	.		0.567	VAMP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252484.2	NM_006634	Intron	5	158	0	0	0	1	0	5	158					A	85818986	G	A	85818986	5	1	305	1	0	0	0	0	0	0	1	0	17113	1275	44	3	148	3	VAMP5	2	85818986	Splice_Site	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	10073736	85818986	157380387	150	14667											
SNRNP200	23020	broad.mit.edu	37	chr2	96957583	96957583	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttttctaggcacatgtccCggatggccctggctgtcttt	4	14	10	13	1	2	0	0	0	2	0	3	1	3	1	3	4	0	2	3	4	1	4			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr2:96957583C>T	ENST00000323853.5	-	17	2293	c.2216G>A	c.(2215-2217)cGg>cAg	p.R739Q	SNRNP200_ENST00000349783.5_Intron	NM_014014.4	NP_054733.2	O75643	U520_HUMAN	small nuclear ribonucleoprotein 200kDa (U5)	739	Helicase C-terminal 1. {ECO:0000255|PROSITE-ProRule:PRU00542}.				ATP catabolic process (GO:0006200)|cis assembly of pre-catalytic spliceosome (GO:0000354)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|osteoblast differentiation (GO:0001649)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U5 snRNP (GO:0005682)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|ATP-dependent RNA helicase activity (GO:0004004)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|lung(37)|ovary(7)|prostate(4)|skin(5)|stomach(1)|urinary_tract(1)	90						GCACATGTCCCGGATGGCCCT	0.557																																						ENST00000323853.5																			0				breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|lung(37)|ovary(7)|prostate(4)|skin(5)|stomach(1)|urinary_tract(1)	90						c.(2215-2217)cGg>cAg		small nuclear ribonucleoprotein 200kDa (U5)							65	61	62					2																	96957583		2203	4300	6503	SO:0001583	missense	23020					catalytic step 2 spliceosome|nucleoplasm|U5 snRNP	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding	g.chr2:96957583C>T	AL831994	CCDS2020.1	2q11.2	2013-05-13	2008-10-29	2008-10-29	ENSG00000144028	ENSG00000144028			30859	protein-coding gene	gene with protein product	"U5 snRNP specific protein, 200 KD"	601664	"activating signal cointegrator 1 complex subunit 3-like 1", "retinitis pigmentosa 33 (autosomal dominant)"	ASCC3L1, RP33		9872452, 8670905, 9774689, 9539711, 16612614, 19878916	Standard	NM_014014		Approved	U5-200KD, HELIC2, KIAA0788, BRR2	uc002svu.3	O75643	OTTHUMG00000130455	ENST00000323853.5:c.2216G>A	2.37:g.96957583C>T	ENSP00000317123:p.Arg739Gln					SNRNP200_ENST00000349783.5_Intron	p.R739Q	NM_014014.4	NP_054733.2	O75643	U520_HUMAN			17	2293	-			739			Helicase C-terminal 1.		O94884|Q6NZY0|Q6PX59|Q8NBE6|Q96IF2|Q9H7S0	Missense_Mutation	SNP	ENST00000323853.5	37	c.2216G>A	CCDS2020.1	.	.	.	.	.	.	.	.	.	.	C	36	5.963551	0.97151	.	.	ENSG00000144028	ENST00000323853;ENST00000540328	T	0.76186	-1.0	6.17	6.17	0.99709	Helicase, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.83931	0.5361	M	0.84585	2.705	0.80722	D	1	D	0.63046	0.992	P	0.50270	0.636	D	0.85982	0.1483	10	0.87932	D	0	-17.1617	19.6509	0.95805	0.0:1.0:0.0:0.0	.	739	O75643	U520_HUMAN	Q	739;414	ENSP00000317123:R739Q	ENSP00000317123:R739Q	R	-	2	0	SNRNP200	96321310	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.762000	0.85270	2.941000	0.99782	0.655000	0.94253	CGG		0.557	SNRNP200-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252846.2	NM_014014		12	43	0	0	0	1	0	12	43					T	96957583	C	T	96957583	3	4	305	1	0	0	0	0	1	0	0	0	14852	652	23	2	4310	2	SNRNP200	2	96957583	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	11138597	96957583	146241790	151	14668											
CNNM4	26504	broad.mit.edu	37	chr2	97464908	97464908	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcacaataagtactacgcccGccattacctgtacacccgaa	13	7	6	15	3	0	0	0	0	0	0	0	1	0	0	4	0	4	3	4	0	7	5	rs374698559		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr2:97464908G>A	ENST00000377075.2	+	4	1894	c.1796G>A	c.(1795-1797)cGc>cAc	p.R599H	CNNM4_ENST00000496186.1_3'UTR|MIR3127_ENST00000583925.1_RNA|CNNM4_ENST00000540067.1_Missense_Mutation_p.R86H	NM_020184.3	NP_064569.3	Q6P4Q7	CNNM4_HUMAN	cyclin and CBS domain divalent metal cation transport mediator 4	599					biomineral tissue development (GO:0031214)|ion transport (GO:0006811)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	adenyl nucleotide binding (GO:0030554)			breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)	20						TACTACGCCCGCCATTACCTG	0.567																																						ENST00000377075.2																			0				breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)	20						c.(1795-1797)cGc>cAc		cyclin M4		G	HIS/ARG	0,4406		0,0,2203	90	81	84		1796	-0.1	0.2	2		84	1,8599	1.2+/-3.3	0,1,4299	no	missense	CNNM4	NM_020184.3	29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	599/776	97464908	1,13005	2203	4300	6503	SO:0001583	missense	26504				biomineral tissue development|ion transport|response to stimulus|visual perception	integral to membrane|plasma membrane		g.chr2:97464908G>A	AB046812	CCDS2024.2	2q11.2	2014-08-08	2014-08-07		ENSG00000158158	ENSG00000158158			105	protein-coding gene	gene with protein product		607805	"cyclin M4"	ACDP4		21393841, 24194943	Standard	XM_005263914		Approved	KIAA1592	uc002swx.3	Q6P4Q7	OTTHUMG00000130532	ENST00000377075.2:c.1796G>A	2.37:g.97464908G>A	ENSP00000366275:p.Arg599His					CNNM4_ENST00000540067.1_Missense_Mutation_p.R86H|CNNM4_ENST00000496186.1_3'UTR	p.R599H	NM_020184.3	NP_064569.3	Q6P4Q7	CNNM4_HUMAN			4	1894	+			599					B7Z1U0|C7SQM3|C7SQM4|C7SQM5|Q53RE5|Q9H9G3|Q9HCI0|Q9NRN1	Missense_Mutation	SNP	ENST00000377075.2	37	c.1796G>A	CCDS2024.2	.	.	.	.	.	.	.	.	.	.	G	8.931	0.963427	0.18583	0.0	1.16E-4	ENSG00000158158	ENST00000377075;ENST00000540067	T	0.42513	0.97	5.02	-0.0655	0.13768	RmlC-like jelly roll fold (1);Cyclic nucleotide-binding domain (2);	0.583162	0.19283	N	0.118113	T	0.17195	0.0413	N	0.05383	-0.06	0.29960	N	0.819505	B;B	0.21905	0.062;0.001	B;B	0.15870	0.014;0.001	T	0.12553	-1.0543	10	0.25751	T	0.34	-7.5395	4.9513	0.14015	0.4745:0.0:0.374:0.1515	.	86;599	B7Z1U0;Q6P4Q7	.;CNNM4_HUMAN	H	599;86	ENSP00000366275:R599H	ENSP00000366275:R599H	R	+	2	0	CNNM4	96828635	0.000000	0.05858	0.159000	0.22649	0.667000	0.39255	-0.190000	0.09615	-0.247000	0.09597	-0.397000	0.06425	CGC		0.567	CNNM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252954.1	NM_020184		47	62	0	0	0	1	0	47	62					A	97464908	G	A	97464908	3	1	305	1	0	0	0	0	1	0	0	0	3615	1087	38	1	1810	1	CNNM4	2	97464908	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	507325	97464908	145734465	152	14669											
SEMA4C	54910	broad.mit.edu	37	chr2	97527616	97527616	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caccagctgagagcgggagcCggcaaagagcagcttctgcg	10	4	15	12	3	1	2	0	1	1	2	1	4	1	3	2	2	6	4	2	2	1	1			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr2:97527616C>T	ENST00000305476.5	-	13	1591	c.1459G>A	c.(1459-1461)Ggc>Agc	p.G487S		NM_017789.4	NP_060259.4	Q9C0C4	SEM4C_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4C	487	Dominant negative effect on myogenic differentiation. {ECO:0000250}.|Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				cell migration in hindbrain (GO:0021535)|cerebellum development (GO:0021549)|muscle cell differentiation (GO:0042692)|neural tube closure (GO:0001843)|positive regulation of stress-activated MAPK cascade (GO:0032874)|semaphorin-plexin signaling pathway (GO:0071526)	cell junction (GO:0030054)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|synaptic vesicle membrane (GO:0030672)	receptor activity (GO:0004872)			NS(1)|kidney(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	17						GAGCGGGAGCCGGCAAAGAGC	0.687																																						ENST00000305476.5																			0				NS(1)|kidney(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	17						c.(1459-1461)Ggc>Agc		sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4C							11	11	11					2																	97527616		2177	4268	6445	SO:0001583	missense	54910				muscle cell differentiation|nervous system development|positive regulation of stress-activated MAPK cascade	cell junction|integral to membrane|postsynaptic density|postsynaptic membrane|synaptic vesicle membrane	receptor activity	g.chr2:97527616C>T	AB051526	CCDS2029.1	2q11.2	2013-01-11			ENSG00000168758	ENSG00000168758		"Semaphorins", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	10731	protein-coding gene	gene with protein product	"M-Sema F"	604462		SEMAI		7656991	Standard	NM_017789		Approved	Semacl1, Semaf	uc002sxh.4	Q9C0C4	OTTHUMG00000130535	ENST00000305476.5:c.1459G>A	2.37:g.97527616C>T	ENSP00000306844:p.Gly487Ser						p.G487S	NM_017789.4	NP_060259.4	Q9C0C4	SEM4C_HUMAN			13	1591	-			487			Dominant negative effect on myogenic differentiation (By similarity).|Sema.		Q32MJ3|Q7Z5X0	Missense_Mutation	SNP	ENST00000305476.5	37	c.1459G>A	CCDS2029.1	.	.	.	.	.	.	.	.	.	.	C	25.5	4.644194	0.87859	.	.	ENSG00000168758	ENST00000305476	T	0.30714	1.52	4.93	4.93	0.64822	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (2);	0.000000	0.85682	D	0.000000	T	0.46541	0.1398	L	0.57130	1.785	0.80722	D	1	D;D	0.61080	0.989;0.989	P;P	0.57679	0.825;0.697	T	0.26189	-1.0110	10	0.33940	T	0.23	.	17.0724	0.86578	0.0:1.0:0.0:0.0	.	487;197	Q9C0C4;Q6P5A5	SEM4C_HUMAN;.	S	487	ENSP00000306844:G487S	ENSP00000306844:G487S	G	-	1	0	SEMA4C	96891343	1.000000	0.71417	0.960000	0.40013	0.817000	0.46193	7.534000	0.82004	2.562000	0.86427	0.563000	0.77884	GGC		0.687	SEMA4C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252957.1	NM_017789		5	27	0	0	0	1	0	5	27					T	97527616	C	T	97527616	3	4	305	1	0	0	0	0	1	0	0	0	14033	652	23	2	1054	2	SEMA4C	2	97527616	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	62708	97527616	145671757	153	14670											
C2orf55	343990	broad.mit.edu	37	chr2	99439044	99439045	+	Frame_Shift_Ins	INS	-	-	C																															cgcctcgcagctcggcaccgINScccctctccgccttccgctc																										TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr2:99439044_99439045insC	ENST00000397899.2	-	7	2022_2023	c.1691_1692insG	c.(1690-1692)ggcfs	p.G564fs		NM_207362.2	NP_997245.2	Q6NV74	K121L_HUMAN	KIAA1211-like	564																	GCTCGGCACCGCCCCTCTCCGC	0.792																																						ENST00000397899.2																			0											c.(1690-1692)gggfs		KIAA1211-like																																				SO:0001589	frameshift_variant	343990							g.chr2:99439044_99439045insC	BC068277	CCDS42720.1	2q11.2	2012-08-03	2012-08-03	2012-08-03	ENSG00000196872	ENSG00000196872			33454	protein-coding gene	gene with protein product			"chromosome 2 open reading frame 55"	C2orf55			Standard	NM_207362		Approved	MGC42367	uc002szf.1	Q6NV74	OTTHUMG00000153171	ENST00000397899.2:c.1692dupG	2.37:g.99439048_99439048dupC	ENSP00000380996:p.Gly564fs						p.G564fs	NM_207362.2	NP_997245.2					7	2022_2023	-									Frame_Shift_Ins	INS	ENST00000397899.2	37	c.1691_1692insG	CCDS42720.1																																																																																				0.792	KIAA1211L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329933.1	NM_207362		6	1						6	1	---	---	---	---	C	99439045	-	C	99439044	7	5	305	1	0	1	1	0	0	0	0	0	2176	1074	38	0	1212	0	C2orf55	2	99439044	Frame_Shift_Ins	INS	-	TCGA-KK-A59V-01A-11D-A29Q-08	1911428	99439044	143760329	154	14671											
SLC5A7	60482	broad.mit.edu	37	chr2	108626820	108626820	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gttctgaccttgtttacatcGttatcttcccccagctgctt	5	17	6	13	1	2	1	0	1	2	0	4	1	3	1	3	0	3	5	3	0	2	7			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr2:108626820G>A	ENST00000264047.2	+	9	1522	c.1246G>A	c.(1246-1248)Gtt>Att	p.V416I	SLC5A7_ENST00000540517.1_Missense_Mutation_p.V311I|SLC5A7_ENST00000409059.1_Missense_Mutation_p.V416I	NM_021815.2	NP_068587.1	Q9GZV3	SC5A7_HUMAN	solute carrier family 5 (sodium/choline cotransporter), member 7	416					acetylcholine biosynthetic process (GO:0008292)|cell death (GO:0008219)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter secretion (GO:0007269)|synaptic transmission (GO:0007268)|synaptic transmission, cholinergic (GO:0007271)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	choline binding (GO:0033265)|choline transmembrane transporter activity (GO:0015220)|choline:sodium symporter activity (GO:0005307)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	49					Choline(DB00122)	TGTTTACATCGTTATCTTCCC	0.483																																						ENST00000264047.2																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						c.(1246-1248)Gtt>Att		solute carrier family 5 (sodium/choline cotransporter), member 7	Choline(DB00122)						280	223	243					2																	108626820		2203	4300	6503	SO:0001583	missense	60482				acetylcholine biosynthetic process|neurotransmitter secretion	integral to membrane|plasma membrane	choline:sodium symporter activity	g.chr2:108626820G>A	AF276871	CCDS2074.1	2q12	2013-07-19	2013-07-19		ENSG00000115665	ENSG00000115665		"Solute carriers"	14025	protein-coding gene	gene with protein product		608761	"solute carrier family 5 (choline transporter), member 7"			11027560	Standard	NM_021815		Approved	hCHT, CHT1	uc002tdv.3	Q9GZV3	OTTHUMG00000130959	ENST00000264047.2:c.1246G>A	2.37:g.108626820G>A	ENSP00000264047:p.Val416Ile					SLC5A7_ENST00000409059.1_Missense_Mutation_p.V416I|SLC5A7_ENST00000540517.1_Missense_Mutation_p.V311I	p.V416I	NM_021815.2	NP_068587.1	Q9GZV3	SC5A7_HUMAN			9	1522	+			416					Q53TF2	Missense_Mutation	SNP	ENST00000264047.2	37	c.1246G>A	CCDS2074.1	.	.	.	.	.	.	.	.	.	.	G	2.606	-0.291836	0.05568	.	.	ENSG00000115665	ENST00000409059;ENST00000540517;ENST00000264047	D;D;D	0.88277	-2.36;-2.36;-2.36	5.95	3.47	0.39725	.	0.134780	0.64402	N	0.000002	T	0.60077	0.2241	N	0.00315	-1.66	0.28369	N	0.920077	B	0.02656	0.0	B	0.09377	0.004	T	0.57814	-0.7746	10	0.02654	T	1	-21.1766	9.3279	0.38003	0.7969:0.0:0.2031:0.0	.	416	Q9GZV3	SC5A7_HUMAN	I	416;311;416	ENSP00000387346:V416I;ENSP00000445351:V311I;ENSP00000264047:V416I	ENSP00000264047:V416I	V	+	1	0	SLC5A7	107993252	1.000000	0.71417	1.000000	0.80357	0.635000	0.38103	5.357000	0.66058	0.505000	0.28104	-0.300000	0.09419	GTT		0.483	SLC5A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253562.1			22	67	0	0	0	1	0	22	67					A	108626820	G	A	108626820	3	1	305	1	0	0	0	0	1	0	0	0	14670	1145	40	1	1276	1	SLC5A7	2	108626820	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	9187776	108626820	134572553	155	14672											
RANBP2	5903	broad.mit.edu	37	chr2	109388168	109388168	+	Frame_Shift_Del	DEL	A	A	-																															gtgttacagcaaaagagaagAaaaaacctgaagattctccc																										TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr2:109388168delA	ENST00000283195.6	+	21	7987	c.7861delA	c.(7861-7863)aaafs	p.K2622fs		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	2622					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|negative regulation of glucokinase activity (GO:0033132)|protein folding (GO:0006457)|protein import into nucleus (GO:0006606)|protein sumoylation (GO:0016925)|regulation of gluconeogenesis involved in cellular glucose homeostasis (GO:0090526)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)	ligase activity (GO:0016874)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|Ran GTPase binding (GO:0008536)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)		RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						AAAAGAGAAGAAAAAACCTGA	0.353																																						ENST00000283195.6																		RANBP2/ALK(34)	0				NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						c.(7861-7863)aafs		RAN binding protein 2							112	126	121					2																	109388168		2203	4300	6503	SO:0001589	frameshift_variant	5903				carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding	g.chr2:109388168delA	D42063	CCDS2079.1	2q13	2013-11-14			ENSG00000153201	ENSG00000153201		"Tetratricopeptide (TTC) repeat domain containing"	9848	protein-coding gene	gene with protein product		601181	"acute necrotizing encephalopathy 1 (autosomal dominant)"	ANE1		7724562, 19118815	Standard	NM_006267		Approved	NUP358, ADANE	uc002tem.4	P49792	OTTHUMG00000130981	ENST00000283195.6:c.7861delA	2.37:g.109388168delA	ENSP00000283195:p.Lys2622fs						p.K2622fs	NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN			21	7987	+			2622					Q13074|Q15280|Q53TE2|Q59FH7	Frame_Shift_Del	DEL	ENST00000283195.6	37	c.7861delA	CCDS2079.1																																																																																				0.353	RANBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253594.1	NM_006267		55	143						55	143	---	---	---	---	-	109388168	A	-	109388168	7	5	305	1	0	1	0	1	0	0	0	0	13028	247	9	0	7943	0	RANBP2	2	109388168	Frame_Shift_Del	DEL	A	TCGA-KK-A59V-01A-11D-A29Q-08	761348	109388168	133811205	156	14673											
PAX8	7849	broad.mit.edu	37	chr2	114002135	114002135	+	Frame_Shift_Del	DEL	G	G	-																															ccaatcttctccaccaccttGggggtggccaccttgggctt																								rs200158983		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr2:114002135delG	ENST00000429538.3	-	4	452	c.258delC	c.(256-258)cccfs	p.P86fs	PAX8_ENST00000263334.5_Frame_Shift_Del_p.P86fs|PAX8_ENST00000348715.5_Frame_Shift_Del_p.P86fs|PAX8_ENST00000263335.7_Frame_Shift_Del_p.P86fs|PAX8_ENST00000397647.3_Frame_Shift_Del_p.P86fs|AC016683.6_ENST00000422956.2_RNA|AC016683.6_ENST00000451179.1_RNA|AC016683.6_ENST00000445745.1_RNA|AC016683.6_ENST00000556070.1_RNA|AC016683.6_ENST00000436293.2_RNA|AC016683.6_ENST00000553869.2_RNA|AC016683.6_ENST00000333145.5_RNA	NM_003466.3	NP_003457.1	Q06710	PAX8_HUMAN	paired box 8	86	Paired. {ECO:0000255|PROSITE- ProRule:PRU00381}.				anatomical structure morphogenesis (GO:0009653)|branching involved in ureteric bud morphogenesis (GO:0001658)|cellular response to gonadotropin stimulus (GO:0071371)|central nervous system development (GO:0007417)|inner ear morphogenesis (GO:0042472)|kidney development (GO:0001822)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|mesonephros development (GO:0001823)|metanephric comma-shaped body morphogenesis (GO:0072278)|metanephric distal convoluted tubule development (GO:0072221)|metanephric epithelium development (GO:0072207)|metanephric nephron tubule formation (GO:0072289)|metanephric S-shaped body morphogenesis (GO:0072284)|negative regulation of apoptotic process involved in metanephric collecting duct development (GO:1900215)|negative regulation of apoptotic process involved in metanephric nephron tubule development (GO:1900218)|negative regulation of mesenchymal cell apoptotic process involved in metanephric nephron morphogenesis (GO:0072305)|negative regulation of mesenchymal cell apoptotic process involved in metanephros development (GO:1900212)|otic vesicle development (GO:0071599)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0072108)|positive regulation of metanephric DCT cell differentiation (GO:2000594)|positive regulation of thyroid hormone generation (GO:2000611)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|pronephric field specification (GO:0039003)|pronephros development (GO:0048793)|regulation of apoptotic process (GO:0042981)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)|regulation of thyroid-stimulating hormone secretion (GO:2000612)|thyroid gland development (GO:0030878)|thyroid-stimulating hormone signaling pathway (GO:0038194)|transcription, DNA-templated (GO:0006351)|urogenital system development (GO:0001655)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|thyroid-stimulating hormone receptor activity (GO:0004996)|transcription regulatory region DNA binding (GO:0044212)		PAX8/PPARG(117)	breast(1)|endometrium(4)|kidney(2)|large_intestine(1)|liver(1)|lung(9)|ovary(1)|skin(1)	20						CCACCACCTTGGGGGTGGCCA	0.567			T	PPARG	follicular thyroid		Thyroid dysgenesis																														Ovarian(188;7 2067 9084 29802 29892)	ENST00000429538.3				Dom	yes		2	2q12-q14	7849	T	paired box gene 8	yes	Thyroid dysgenesis	E	PPARG		follicular thyroid	PAX8/PPARG(117)	0				breast(1)|endometrium(4)|kidney(2)|large_intestine(1)|liver(1)|lung(9)|ovary(1)|skin(1)	20						c.(256-258)ccfs		paired box 8							158	174	169					2																	114002135		2145	4277	6422	SO:0001589	frameshift_variant	7849				branching involved in ureteric bud morphogenesis|cellular response to gonadotropin stimulus|central nervous system development|mesenchymal to epithelial transition involved in metanephros morphogenesis|mesonephros development|metanephric collecting duct development|metanephric comma-shaped body morphogenesis|metanephric distal convoluted tubule development|metanephric nephron tubule formation|metanephric S-shaped body morphogenesis|negative regulation of mesenchymal stem cell apoptosis involved in metanephric nephron morphogenesis|otic vesicle development|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|positive regulation of metanephric DCT cell differentiation|positive regulation of thyroid hormone generation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|pronephric field specification|regulation of metanephric nephron tubule epithelial cell differentiation|regulation of thyroid-stimulating hormone secretion|thyroid gland development|transcription, DNA-dependent	nucleoplasm	protein binding|RNA polymerase II core promoter sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|thyroid-stimulating hormone receptor activity	g.chr2:114002135delG	X69699	CCDS42735.1, CCDS42736.1, CCDS46398.1, CCDS46399.1	2q13	2011-06-20	2007-07-12		ENSG00000125618	ENSG00000125618		"Paired boxes", "Homeoboxes / PRD class"	8622	protein-coding gene	gene with protein product		167415	"paired box gene 8"			8431641, 7981748	Standard	NM_003466		Approved		uc010yxt.2	Q06710	OTTHUMG00000128529	ENST00000429538.3:c.258delC	2.37:g.114002135delG	ENSP00000395498:p.Pro86fs					PAX8_ENST00000263334.5_Frame_Shift_Del_p.P86fs|AC016683.6_ENST00000556070.1_RNA|PAX8_ENST00000397647.3_Frame_Shift_Del_p.P86fs|AC016683.6_ENST00000333145.5_RNA|AC016683.6_ENST00000553869.2_RNA|AC016683.6_ENST00000445745.1_RNA|PAX8_ENST00000263335.7_Frame_Shift_Del_p.P86fs|AC016683.6_ENST00000422956.1_RNA|AC016683.6_ENST00000436293.2_RNA|AC016683.6_ENST00000451179.1_RNA|PAX8_ENST00000348715.5_Frame_Shift_Del_p.P86fs	p.P86fs	NM_003466.3	NP_003457.1	Q06710	PAX8_HUMAN			4	452	-			86			Paired.		Q09155|Q16337|Q16338|Q16339|Q4ZG35|Q96J49	Frame_Shift_Del	DEL	ENST00000429538.3	37	c.258delC	CCDS46398.1																																																																																				0.567	PAX8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250353.5			10	421						10	421	---	---	---	---	-	114002135	G	-	114002135	7	5	305	1	0	1	0	1	0	0	0	0	11485	1335	47	0	1005	0	PAX8	2	114002135	Frame_Shift_Del	DEL	G	TCGA-KK-A59V-01A-11D-A29Q-08	4613967	114002135	129197238	157	14674											
TUBA3E	112714	broad.mit.edu	37	chr2	130949671	130949671	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gccaggtctcccccggggacCactgtggggggctggtagtt	4	8	17	12	1	1	0	0	0	1	0	2	1	1	1	4	7	0	3	4	7	1	2			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr2:130949671C>T	ENST00000312988.7	-	5	1186	c.1086G>A	c.(1084-1086)gtG>gtA	p.V362V		NM_207312.2	NP_997195	Q6PEY2	TBA3E_HUMAN	tubulin, alpha 3e	362					microtubule-based process (GO:0007017)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			endometrium(4)|kidney(7)|large_intestine(6)|lung(9)|skin(2)	28	Colorectal(110;0.1)					CCCCGGGGACCACTGTGGGGG	0.592																																						ENST00000312988.7																			0				endometrium(4)|kidney(7)|large_intestine(6)|lung(9)|skin(2)	28						c.(1084-1086)gtG>gtA		tubulin, alpha 3e							30	32	31					2																	130949671		2201	4294	6495	SO:0001819	synonymous_variant	112714				microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity	g.chr2:130949671C>T	BC057811	CCDS2158.1	2q21.1	2007-03-16			ENSG00000152086	ENSG00000152086		"Tubulins"	20765	protein-coding gene	gene with protein product							Standard	NM_207312		Approved		uc002tqv.3	Q6PEY2	OTTHUMG00000131626	ENST00000312988.7:c.1086G>A	2.37:g.130949671C>T							p.V362V	NM_207312.2	NP_997195.1	Q6PEY2	TBA3E_HUMAN			5	1186	-	Colorectal(110;0.1)		362						Silent	SNP	ENST00000312988.7	37	c.1086G>A	CCDS2158.1																																																																																				0.592	TUBA3E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254519.1	NM_207312		30	73	0	0	0	1	0	30	73					T	130949671	C	T	130949671	2	4	305	1	0	0	0	0	0	0	0	1	16745	581	21	3		3	TUBA3E	2	130949671	Silent	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	16947536	130949671	112249702	158	14675											
TUBA3E	112714	broad.mit.edu	37	chr2	130951457	130951457	+	Frame_Shift_Del	DEL	T	T	-																															tttggggaccacgtccccccTgtacaacatgcagcaggcca																										TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr2:130951457delT	ENST00000312988.7	-	4	1058	c.958delA	c.(958-960)aggfs	p.R320fs		NM_207312.2	NP_997195	Q6PEY2	TBA3E_HUMAN	tubulin, alpha 3e	320					microtubule-based process (GO:0007017)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			endometrium(4)|kidney(7)|large_intestine(6)|lung(9)|skin(2)	28	Colorectal(110;0.1)					ACGTCCCCCCTGTACAACATG	0.562																																						ENST00000312988.7																			0				endometrium(4)|kidney(7)|large_intestine(6)|lung(9)|skin(2)	28						c.(958-960)ggfs		tubulin, alpha 3e				1,4265		0,1,2132	154	135	141			3	1	2		141	0,8254		0,0,4127	no	frameshift	TUBA3E	NM_207312.2		0,1,6259	A1A1,A1R,RR		0.0,0.0234,0.0080			130951457	1,12519	2203	4300	6503	SO:0001589	frameshift_variant	112714				microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity	g.chr2:130951457delT	BC057811	CCDS2158.1	2q21.1	2007-03-16			ENSG00000152086	ENSG00000152086		"Tubulins"	20765	protein-coding gene	gene with protein product							Standard	NM_207312		Approved		uc002tqv.3	Q6PEY2	OTTHUMG00000131626	ENST00000312988.7:c.958delA	2.37:g.130951457delT	ENSP00000318197:p.Arg320fs						p.R320fs	NM_207312.2	NP_997195.1	Q6PEY2	TBA3E_HUMAN			4	1058	-	Colorectal(110;0.1)		320						Frame_Shift_Del	DEL	ENST00000312988.7	37	c.958delA	CCDS2158.1																																																																																				0.562	TUBA3E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254519.1	NM_207312		59	141						59	141	---	---	---	---	-	130951457	T	-	130951457	7	5	305	1	0	1	0	1	0	0	0	0	16745	1579	55	0	402	0	TUBA3E	2	130951457	Frame_Shift_Del	DEL	T	TCGA-KK-A59V-01A-11D-A29Q-08	1786	130951457	112247916	159	14676											
FAM123C	205147	broad.mit.edu	37	chr2	131520231	131520231	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acccgtcagaccctggggggCggcgaagcaaagccttcctc	8	5	13	15	3	1	1	1	0	0	1	3	2	2	1	4	4	2	1	4	4	2	1			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr2:131520231C>T	ENST00000423981.1	+	2	696	c.586C>T	c.(586-588)Cgg>Tgg	p.R196W	AMER3_ENST00000321420.4_Missense_Mutation_p.R196W	NM_001105193.1|NM_001105194.1|NM_001105195.1|NM_152698.2	NP_001098663.1|NP_001098664.1|NP_001098665.1|NP_689911.2	Q8N944	AMER3_HUMAN	APC membrane recruitment protein 3	196					Wnt signaling pathway (GO:0016055)	plasma membrane (GO:0005886)	lipid binding (GO:0008289)										CCCTGGGGGGCGGCGAAGCAA	0.672																																						ENST00000423981.1																			0											c.(586-588)Cgg>Tgg		APC membrane recruitment protein 3							25	32	29					2																	131520231		2200	4284	6484	SO:0001583	missense	205147							g.chr2:131520231C>T	AK095696	CCDS2164.1	2q21.1	2012-12-03	2012-12-03	2012-12-03	ENSG00000178171	ENSG00000178171		"-"	26771	protein-coding gene	gene with protein product			"family with sequence similarity 123C"	FAM123C		20843316	Standard	NM_001105195		Approved	FLJ38377	uc002trw.2	Q8N944	OTTHUMG00000131637	ENST00000423981.1:c.586C>T	2.37:g.131520231C>T	ENSP00000392700:p.Arg196Trp					AMER3_ENST00000321420.4_Missense_Mutation_p.R196W	p.R196W	NM_001105193.1|NM_001105194.1|NM_001105195.1|NM_152698.2	NP_001098663.1|NP_001098664.1|NP_001098665.1|NP_689911.2					2	696	+								B7ZLH6	Missense_Mutation	SNP	ENST00000423981.1	37	c.586C>T	CCDS2164.1	.	.	.	.	.	.	.	.	.	.	C	10.67	1.415480	0.25552	.	.	ENSG00000178171	ENST00000321420;ENST00000423981	T;T	0.54279	0.58;0.58	5.21	0.769	0.18492	.	1.448950	0.03947	N	0.287921	T	0.52517	0.1739	N	0.24115	0.695	0.09310	N	1	D	0.69078	0.997	P	0.54815	0.761	T	0.47560	-0.9108	10	0.72032	D	0.01	.	8.3373	0.32221	0.4865:0.3968:0.1168:0.0	.	196	Q8N944	F123C_HUMAN	W	196	ENSP00000314914:R196W;ENSP00000392700:R196W	ENSP00000314914:R196W	R	+	1	2	FAM123C	131236701	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.044000	0.13992	0.009000	0.14813	-0.314000	0.08810	CGG		0.672	AMER3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254531.3	NM_152698		23	55	0	0	0	1	0	23	55					T	131520231	C	T	131520231	3	4	305	1	0	0	0	0	1	0	0	0	5424	759	27	1	588	1	FAM123C	2	131520231	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	568774	131520231	111679142	160	14677											
LRP1B	53353	broad.mit.edu	37	chr2	141115624	141115624	+	Frame_Shift_Del	DEL	T	T	-																															tggagatccatagggatgcaTtttttattactacaagcaaa																										TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr2:141115624delT	ENST00000389484.3	-	74	12290	c.11319delA	c.(11317-11319)aaafs	p.K3773fs		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	3773	LDL-receptor class A 32. {ECO:0000255|PROSITE-ProRule:PRU00124}.				protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TAGGGATGCATTTTTTATTAC	0.388										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	ENST00000389484.3																			0				NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606						c.(11317-11319)aafs		low density lipoprotein receptor-related protein 1B							166	153	158					2																	141115624		2203	4299	6502	SO:0001589	frameshift_variant	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141115624delT	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"Low density lipoprotein receptors"	6693	protein-coding gene	gene with protein product	"LRP-deleted in tumors"	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.11319delA	2.37:g.141115624delT	ENSP00000374135:p.Lys3773fs	TSP Lung(27;0.18)					p.K3773fs	NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)	74	12290	-		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)	3773			LDL-receptor class A 32.		Q8WY29|Q8WY30|Q8WY31	Frame_Shift_Del	DEL	ENST00000389484.3	37	c.11319delA	CCDS2182.1																																																																																				0.388	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		7	107						7	107	---	---	---	---	-	141115624	T	-	141115624	7	5	305	1	0	1	0	1	0	0	0	0	8955	1490	52	0	2552	0	LRP1B	2	141115624	Frame_Shift_Del	DEL	T	TCGA-KK-A59V-01A-11D-A29Q-08	9595393	141115624	102083749	161	14678											
LRP1B	53353	broad.mit.edu	37	chr2	141356218	141356218	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acatgtctctgggatccatcGtattcacacctttcaatttt	9	16	5	11	1	3	0	2	0	1	0	6	1	4	1	2	1	0	1	2	1	2	5	rs374730975		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr2:141356218G>A	ENST00000389484.3	-	43	8147	c.7176C>T	c.(7174-7176)taC>taT	p.Y2392Y		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	2392					protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		GGGATCCATCGTATTCACACC	0.353										TSP Lung(27;0.18)			G|||	1	0.000199681	8e-04	0	5008	,	,		17487	0		0	False		,,,				2504	0				Colon(99;50 2074 2507 20106)	ENST00000389484.3																			0				NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606						c.(7174-7176)taC>taT		low density lipoprotein receptor-related protein 1B		G		1,4405	2.1+/-5.4	0,1,2202	133	122	125		7176	-1.1	1	2		125	0,8600		0,0,4300	no	coding-synonymous	LRP1B	NM_018557.2		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		2392/4600	141356218	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141356218G>A	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"Low density lipoprotein receptors"	6693	protein-coding gene	gene with protein product	"LRP-deleted in tumors"	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.7176C>T	2.37:g.141356218G>A		TSP Lung(27;0.18)					p.Y2392Y	NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)	43	8147	-		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)	2392					Q8WY29|Q8WY30|Q8WY31	Silent	SNP	ENST00000389484.3	37	c.7176C>T	CCDS2182.1																																																																																				0.353	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		4	26	0	0	0	1	0	4	26					A	141356218	G	A	141356218	2	1	305	1	0	0	0	0	0	0	0	1	8955	1140	40	1		1	LRP1B	2	141356218	Silent	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	240594	141356218	101843155	162	14679											
KIF5C	3800	broad.mit.edu	37	chr2	149853788	149853788	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcaaaacagaaaaaatgcaCgaagtcagcttccaggataa	19	7	7	8	1	2	1	2	0	0	1	3	3	3	2	1	1	3	2	1	1	7	3			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr2:149853788C>T	ENST00000435030.1	+	18	2402	c.2034C>T	c.(2032-2034)caC>caT	p.H678H	KIF5C_ENST00000414838.2_Silent_p.H583H|KIF5C_ENST00000464066.1_3'UTR|KIF5C_ENST00000397413.1_Silent_p.H446H			O60282	KIF5C_HUMAN	kinesin family member 5C	678					ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mRNA transport (GO:0051028)|organelle organization (GO:0006996)|protein localization (GO:0008104)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36				BRCA - Breast invasive adenocarcinoma(221;0.108)		AAAAAATGCACGAAGTCAGCT	0.408																																						ENST00000435030.1																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36						c.(2032-2034)caC>caT		kinesin family member 5C							101	99	100					2																	149853788		1988	4184	6172	SO:0001819	synonymous_variant	3800				microtubule-based movement|organelle organization	cytoplasm|kinesin complex|microtubule	ATP binding|microtubule motor activity	g.chr2:149853788C>T	AB011103	CCDS74586.1	2q23	2008-02-05			ENSG00000168280	ENSG00000168280		"Kinesins"	6325	protein-coding gene	gene with protein product		604593				7514426	Standard	NM_004522		Approved		uc010zbu.2	O60282	OTTHUMG00000153779	ENST00000435030.1:c.2034C>T	2.37:g.149853788C>T						KIF5C_ENST00000464066.1_3'UTR|KIF5C_ENST00000414838.2_Silent_p.H583H|KIF5C_ENST00000397413.1_Silent_p.H446H	p.H678H			O60282	KIF5C_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.108)	18	2402	+			678					O95079|Q2YDC5	Silent	SNP	ENST00000435030.1	37	c.2034C>T																																																																																					0.408	KIF5C-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000332562.3	NM_004522		11	31	0	0	0	1	0	11	31					T	149853788	C	T	149853788	2	4	305	1	0	0	0	0	0	0	0	1	8307	535	19	1		1	KIF5C	2	149853788	Silent	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	8497570	149853788	93345585	163	14680											
NEB	4703	broad.mit.edu	37	chr2	152387573	152387573	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgtgtcgtggattgtggtgtAgcctctgggtttggccttgt	2	17	16	6	1	1	0	0	0	1	0	2	1	1	1	2	4	1	2	2	4	1	4			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr2:152387573A>C	ENST00000172853.10	-	117	16609	c.16462T>G	c.(16462-16464)Tac>Gac	p.Y5488D	NEB_ENST00000603639.1_Missense_Mutation_p.Y7189D|NEB_ENST00000397345.3_Missense_Mutation_p.Y7189D|NEB_ENST00000409198.1_Missense_Mutation_p.Y5488D|NEB_ENST00000427231.2_Missense_Mutation_p.Y7189D|NEB_ENST00000604864.1_Missense_Mutation_p.Y7189D			P20929	NEBU_HUMAN	nebulin	5488					muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		ATTGTGGTGTAGCCTCTGGGT	0.403																																						ENST00000397345.3																			0				NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301						c.(21565-21567)Tac>Gac		nebulin							180	179	179					2																	152387573		2004	4164	6168	SO:0001583	missense	4703				muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle	g.chr2:152387573A>C	X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"nemaline myopathy type 2"	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.16462T>G	2.37:g.152387573A>C	ENSP00000172853:p.Tyr5488Asp					NEB_ENST00000409198.1_Missense_Mutation_p.Y5488D|NEB_ENST00000172853.10_Missense_Mutation_p.Y5488D|NEB_ENST00000427231.2_Missense_Mutation_p.Y7189D|NEB_ENST00000603639.1_Missense_Mutation_p.Y7189D|NEB_ENST00000604864.1_Missense_Mutation_p.Y7189D	p.Y7189D	NM_001164508.1	NP_001157980.1	P20929	NEBU_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.219)	145	21767	-			5488					F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Missense_Mutation	SNP	ENST00000172853.10	37	c.21565T>G		.	.	.	.	.	.	.	.	.	.	A	28.1	4.887419	0.91814	.	.	ENSG00000183091	ENST00000409198;ENST00000397345;ENST00000427231;ENST00000397342;ENST00000413693;ENST00000172853	T;T;T;T;T	0.12255	2.96;2.7;2.87;2.83;2.96	6.07	6.07	0.98685	.	0.054859	0.85682	D	0.000000	T	0.40423	0.1116	M	0.79805	2.47	0.80722	D	1	D;D	0.76494	0.999;0.978	D;D	0.68943	0.961;0.937	T	0.21348	-1.0248	10	0.51188	T	0.08	.	16.6406	0.85098	1.0:0.0:0.0:0.0	.	5488;1919	P20929;Q14215	NEBU_HUMAN;.	D	5488;7189;7189;1537;1919;5488	ENSP00000386259:Y5488D;ENSP00000380505:Y7189D;ENSP00000416578:Y7189D;ENSP00000410961:Y1919D;ENSP00000172853:Y5488D	ENSP00000172853:Y5488D	Y	-	1	0	NEB	152095819	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.962000	0.93254	2.326000	0.78906	0.533000	0.62120	TAC		0.403	NEB-201	KNOWN	basic	protein_coding	protein_coding		NM_004543		9	18	0	0	0	1	0	9	18					C	152387573	A	C	152387573	3	2	305	1	0	0	0	0	1	0	0	0	10302	420	15	5	4164	5	NEB	2	152387573	Missense_Mutation	SNP	A	TCGA-KK-A59V-01A-11D-A29Q-08	2533785	152387573	90811800	164	14681											
NEB	4703	broad.mit.edu	37	chr2	152484040	152484040	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggatcttaattactcacatcGctctggaggtcataggcctg	9	12	10	10	1	4	0	2	0	2	0	5	2	4	2	1	4	1	1	1	4	3	3	rs199870629		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr2:152484040G>A	ENST00000172853.10	-	65	9558	c.9411C>T	c.(9409-9411)agC>agT	p.S3137S	NEB_ENST00000603639.1_Silent_p.S3380S|NEB_ENST00000397345.3_Silent_p.S3380S|NEB_ENST00000409198.1_Silent_p.S3137S|NEB_ENST00000427231.2_Silent_p.S3380S|NEB_ENST00000604864.1_Silent_p.S3380S			P20929	NEBU_HUMAN	nebulin	3137					muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		TACTCACATCGCTCTGGAGGT	0.468																																						ENST00000397345.3																			0				NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301						c.(10138-10140)agC>agT		nebulin							161	155	157					2																	152484040		1989	4164	6153	SO:0001819	synonymous_variant	4703				muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle	g.chr2:152484040G>A	X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"nemaline myopathy type 2"	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.9411C>T	2.37:g.152484040G>A						NEB_ENST00000409198.1_Silent_p.S3137S|NEB_ENST00000172853.10_Silent_p.S3137S|NEB_ENST00000427231.2_Silent_p.S3380S|NEB_ENST00000603639.1_Silent_p.S3380S|NEB_ENST00000604864.1_Silent_p.S3380S	p.S3380S	NM_001164508.1	NP_001157980.1	P20929	NEBU_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.219)	69	10342	-			3380					F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Silent	SNP	ENST00000172853.10	37	c.10140C>T																																																																																					0.468	NEB-201	KNOWN	basic	protein_coding	protein_coding		NM_004543		9	227	0	0	0	1	0	9	227					A	152484040	G	A	152484040	2	1	305	1	0	0	0	0	0	0	0	1	10302	1078	38	1		1	NEB	2	152484040	Silent	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	96467	152484040	90715333	165	14682											
KCNJ3	3760	broad.mit.edu	37	chr2	155711423	155711423	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggaaatgcttctcatgtcGtcccctttaatagcaccagc	10	11	8	12	1	1	0	1	0	1	0	4	2	2	1	3	1	3	2	3	1	3	4	rs376798806		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr2:155711423G>A	ENST00000295101.2	+	3	1581	c.1104G>A	c.(1102-1104)tcG>tcA	p.S368S	KCNJ3_ENST00000493505.1_3'UTR|KCNJ3_ENST00000544049.1_3'UTR	NM_001260509.1|NM_002239.3	NP_001247438.1|NP_002230.1	P48549	KCNJ3_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 3	368					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|response to electrical stimulus (GO:0051602)|synaptic transmission (GO:0007268)	external side of plasma membrane (GO:0009897)|plasma membrane (GO:0005886)|T-tubule (GO:0030315)|voltage-gated potassium channel complex (GO:0008076)	G-protein activated inward rectifier potassium channel activity (GO:0015467)			breast(2)|endometrium(2)|kidney(3)|large_intestine(9)|lung(30)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	54					Halothane(DB01159)	TTCTCATGTCGTCCCCTTTAA	0.408																																						ENST00000295101.2																			0				breast(2)|endometrium(2)|kidney(3)|large_intestine(9)|lung(30)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	54						c.(1102-1104)tcG>tcA		potassium inwardly-rectifying channel, subfamily J, member 3	Halothane(DB01159)						100	103	102					2																	155711423		2203	4300	6503	SO:0001819	synonymous_variant	3760				synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding	g.chr2:155711423G>A	U50964	CCDS2200.1, CCDS58733.1	2q24.1	2011-07-05			ENSG00000162989	ENSG00000162989		"Potassium channels", "Voltage-gated ion channels / Potassium channels, Inwardly rectifying"	6264	protein-coding gene	gene with protein product		601534				8088798, 16382105	Standard	NM_002239		Approved	Kir3.1, GIRK1, KGA	uc002tyv.2	P48549	OTTHUMG00000131937	ENST00000295101.2:c.1104G>A	2.37:g.155711423G>A						KCNJ3_ENST00000544049.1_3'UTR|KCNJ3_ENST00000493505.1_3'UTR	p.S368S	NM_001260509.1|NM_002239.3	NP_001247438.1|NP_002230.1	P48549	IRK3_HUMAN			3	1581	+			368					B4DEW7|Q8TBI0	Silent	SNP	ENST00000295101.2	37	c.1104G>A	CCDS2200.1																																																																																				0.408	KCNJ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254890.2	NM_002239		40	111	0	0	0	1	0	40	111					A	155711423	G	A	155711423	2	1	305	1	0	0	0	0	0	0	0	1	8052	1132	40	1		1	KCNJ3	2	155711423	Silent	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	3227383	155711423	87487950	166	14683											
NR4A2	4929	broad.mit.edu	37	chr2	157186312	157186312	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggaagcccggggtggtgggCgtcgggggcgaggagggctt	4	6	24	7	4	0	0	0	0	0	0	1	3	0	2	1	9	1	1	1	9	1	1			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr2:157186312C>T	ENST00000339562.4	-	3	749	c.387G>A	c.(385-387)acG>acA	p.T129T	NR4A2_ENST00000539077.1_Silent_p.T140T|NR4A2_ENST00000426264.1_Silent_p.T66T|NR4A2_ENST00000429376.1_Silent_p.T66T|NR4A2_ENST00000409108.2_Silent_p.T129T|NR4A2_ENST00000409572.1_Silent_p.T129T	NM_006186.3	NP_006177.1	P43354	NR4A2_HUMAN	nuclear receptor subfamily 4, group A, member 2	129	Gln-rich.|Pro-rich.				adult locomotory behavior (GO:0008344)|cellular response to extracellular stimulus (GO:0031668)|cellular response to oxidative stress (GO:0034599)|central nervous system projection neuron axonogenesis (GO:0021952)|death (GO:0016265)|dopamine biosynthetic process (GO:0042416)|dopaminergic neuron differentiation (GO:0071542)|gene expression (GO:0010467)|general adaptation syndrome (GO:0051866)|habenula development (GO:0021986)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of neuron apoptotic process (GO:0043524)|neuron maturation (GO:0042551)|neuron migration (GO:0001764)|positive regulation of catalytic activity (GO:0043085)|post-embryonic development (GO:0009791)|regulation of dopamine metabolic process (GO:0042053)|regulation of respiratory gaseous exchange (GO:0043576)|response to amphetamine (GO:0001975)|response to hypoxia (GO:0001666)|response to inorganic substance (GO:0010035)|response to insecticide (GO:0017085)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(15)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1)	40						GGGTGGTGGGCGTCGGGGGCG	0.627																																						ENST00000339562.4																			0				breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(15)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1)	40						c.(385-387)acG>acA		nuclear receptor subfamily 4, group A, member 2							57	68	64					2																	157186312		2203	4300	6503	SO:0001819	synonymous_variant	0				cellular response to extracellular stimulus|dopaminergic neuron differentiation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to protein stimulus	nucleoplasm	sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	g.chr2:157186312C>T	X75918	CCDS2201.1	2q22-q23	2013-01-16			ENSG00000153234	ENSG00000153234		"Nuclear hormone receptors"	7981	protein-coding gene	gene with protein product		601828		NURR1		7706727	Standard	NM_006186		Approved	TINUR, NOT, RNR1, HZF-3	uc002tyz.4	P43354	OTTHUMG00000131950	ENST00000339562.4:c.387G>A	2.37:g.157186312C>T						NR4A2_ENST00000429376.1_Silent_p.T66T|NR4A2_ENST00000539077.1_Silent_p.T140T|NR4A2_ENST00000426264.1_Silent_p.T66T|NR4A2_ENST00000409572.1_Silent_p.T129T|NR4A2_ENST00000409108.2_Silent_p.T129T	p.T129T	NM_006186.3	NP_006177.1	P43354	NR4A2_HUMAN			3	749	-			129			Gln-rich.|Pro-rich.		Q16311|Q53RZ2|Q6NXU0	Silent	SNP	ENST00000339562.4	37	c.387G>A	CCDS2201.1																																																																																				0.627	NR4A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254909.2			44	112	0	0	0	1	0	44	112					T	157186312	C	T	157186312	2	4	305	1	0	0	0	0	0	0	0	1	10633	755	27	1		1	NR4A2	2	157186312	Silent	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	1474889	157186312	86013061	167	14684											
ITGB6	3694	broad.mit.edu	37	chr2	160994350	160994350	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgtgggatattcacagtcaCgctgaaggaagcctggaaaa	13	8	13	7	1	2	1	2	1	0	0	2	4	2	4	1	3	1	1	1	3	5	2			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr2:160994350C>T	ENST00000283249.2	-	10	1492	c.1255G>A	c.(1255-1257)Gtg>Atg	p.V419M	ITGB6_ENST00000428609.2_Missense_Mutation_p.V377M|ITGB6_ENST00000409967.2_Missense_Mutation_p.V419M|ITGB6_ENST00000409872.1_Missense_Mutation_p.V419M	NM_001282353.1|NM_001282354.1|NM_001282388.1	NP_001269282.1|NP_001269283.1|NP_001269317.1	P18564	ITB6_HUMAN	integrin, beta 6	419					cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)|inflammatory response (GO:0006954)|integrin-mediated signaling pathway (GO:0007229)|multicellular organismal development (GO:0007275)|viral process (GO:0016032)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	virus receptor activity (GO:0001618)			breast(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	23						TTCACAGTCACGCTGAAGGAA	0.478																																						ENST00000283249.2																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	23						c.(1255-1257)Gtg>Atg		integrin, beta 6							40	40	40					2																	160994350		2203	4300	6503	SO:0001583	missense	3694				cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|multicellular organismal development	integrin complex	receptor activity	g.chr2:160994350C>T		CCDS2212.1, CCDS63040.1, CCDS74596.1, CCDS74597.1	2q24.2	2010-03-23			ENSG00000115221	ENSG00000115221		"Integrins"	6161	protein-coding gene	gene with protein product		147558				1729173, 8120056	Standard	NM_001282353		Approved		uc002ubh.2	P18564	OTTHUMG00000132026	ENST00000283249.2:c.1255G>A	2.37:g.160994350C>T	ENSP00000283249:p.Val419Met					ITGB6_ENST00000409872.1_Missense_Mutation_p.V419M|ITGB6_ENST00000409967.2_Missense_Mutation_p.V419M|ITGB6_ENST00000428609.2_Missense_Mutation_p.V377M	p.V419M			P18564	ITB6_HUMAN			10	1492	-			419					B2R9W5|C9JA97|Q0VA95|Q16500|Q53RG5|Q53RR6	Missense_Mutation	SNP	ENST00000283249.2	37	c.1255G>A	CCDS2212.1	.	.	.	.	.	.	.	.	.	.	C	14.27	2.485712	0.44147	.	.	ENSG00000115221	ENST00000283249;ENST00000428609;ENST00000409967;ENST00000409872	T;T;T;T	0.72282	-0.64;-0.64;-0.64;-0.64	5.09	5.09	0.68999	Integrin beta subunit, N-terminal (2);	0.000000	0.85682	D	0.000000	T	0.73401	0.3582	M	0.83774	2.66	0.58432	D	0.999995	B;B	0.27068	0.167;0.167	B;B	0.26770	0.073;0.073	T	0.75291	-0.3369	10	0.66056	D	0.02	.	14.5698	0.68203	0.1467:0.8532:0.0:0.0	.	377;419	E9PEE8;P18564	.;ITB6_HUMAN	M	419;377;419;419	ENSP00000283249:V419M;ENSP00000408024:V377M;ENSP00000386828:V419M;ENSP00000386367:V419M	ENSP00000283249:V419M	V	-	1	0	ITGB6	160702596	0.782000	0.28689	0.967000	0.41034	0.976000	0.68499	1.533000	0.36040	2.528000	0.85240	0.655000	0.94253	GTG		0.478	ITGB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255036.1	NM_000888		17	43	0	0	0	1	0	17	43					T	160994350	C	T	160994350	3	4	305	1	0	0	0	0	1	0	0	0	7899	536	19	1	1135	1	ITGB6	2	160994350	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	3808038	160994350	82205023	168	14685											
GRB14	2888	broad.mit.edu	37	chr2	165476321	165476321	+	Frame_Shift_Del	DEL	T	T	-																															ccggaacatcaagatctttcTtttttctcctacagtaagag																										TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr2:165476321delT	ENST00000263915.3	-	2	738	c.200delA	c.(199-201)aagfs	p.K68fs		NM_004490.2	NP_004481.2	Q14449	GRB14_HUMAN	growth factor receptor-bound protein 14	68					blood coagulation (GO:0007596)|leukocyte migration (GO:0050900)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	SH3/SH2 adaptor activity (GO:0005070)	p.K67M(1)		breast(3)|endometrium(2)|large_intestine(6)|lung(10)|ovary(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	32						AAGATCTTTCTTTTTTCTCCT	0.368																																						ENST00000263915.3																			1	Substitution - Missense(1)	p.K67M(1)	ovary(1)	breast(3)|endometrium(2)|large_intestine(6)|lung(10)|ovary(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	32						c.(199-201)agfs		growth factor receptor-bound protein 14							134	138	137					2																	165476321		2203	4300	6503	SO:0001589	frameshift_variant	2888				blood coagulation|leukocyte migration	cytosol|endosome membrane|Golgi membrane|microsome|plasma membrane	SH3/SH2 adaptor activity	g.chr2:165476321delT		CCDS2222.1	2q22-q24	2013-02-14			ENSG00000115290	ENSG00000115290		"Pleckstrin homology (PH) domain containing", "SH2 domain containing"	4565	protein-coding gene	gene with protein product		601524				8812444	Standard	XM_005246477		Approved		uc002ucl.3	Q14449	OTTHUMG00000132135	ENST00000263915.3:c.200delA	2.37:g.165476321delT	ENSP00000263915:p.Lys68fs						p.K68fs	NM_004490.2	NP_004481.2	Q14449	GRB14_HUMAN			2	738	-			68					B7Z7F9|Q7Z6I1	Frame_Shift_Del	DEL	ENST00000263915.3	37	c.200delA	CCDS2222.1																																																																																				0.368	GRB14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255180.2			15	51						15	51	---	---	---	---	-	165476321	T	-	165476321	7	5	305	1	0	1	0	1	0	0	0	0	6757	1609	56	0	1474	0	GRB14	2	165476321	Frame_Shift_Del	DEL	T	TCGA-KK-A59V-01A-11D-A29Q-08	4481971	165476321	77723052	169	14686											
SCN1A	6323	broad.mit.edu	37	chr2	166894441	166894441	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagtcattcatgtgccagcGtgggagttgacaatcactgg	10	10	13	8	1	3	1	3	1	0	0	3	3	3	2	1	2	2	1	1	2	2	2	rs121918788		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr2:166894441G>A	ENST00000303395.4	-	15	2790	c.2791C>T	c.(2791-2793)Cgc>Tgc	p.R931C	AC010127.3_ENST00000599041.1_RNA|SCN1A_ENST00000409050.1_Missense_Mutation_p.R903C|SCN1A_ENST00000375405.3_Missense_Mutation_p.R920C|AC010127.3_ENST00000595647.1_RNA|AC010127.3_ENST00000595268.1_RNA|SCN1A_ENST00000423058.2_Missense_Mutation_p.R931C|AC010127.3_ENST00000597623.1_RNA			P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	931			R -> C (in EIEE6; dbSNP:rs121918788). {ECO:0000269|PubMed:12083760}.		adult walking behavior (GO:0007628)|membrane depolarization during action potential (GO:0086010)|neuromuscular process controlling posture (GO:0050884)|neuronal action potential (GO:0019228)|neuronal action potential propagation (GO:0019227)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon initial segment (GO:0043194)|intercalated disc (GO:0014704)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)|Z disc (GO:0030018)	voltage-gated sodium channel activity (GO:0005248)			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Dronedarone(DB04855)|Nitrazepam(DB01595)|Permethrin(DB04930)|Phenacemide(DB01121)|Phenazopyridine(DB01438)|Phenytoin(DB00252)|Topiramate(DB00273)|Valproic Acid(DB00313)|Zonisamide(DB00909)	ATGTGCCAGCGTGGGAGTTGA	0.512																																						ENST00000423058.2																			0				NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200	GRCh37	CM024303	SCN1A	M	rs121918788	c.(2791-2793)Cgc>Tgc		sodium channel, voltage-gated, type I, alpha subunit	Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)						242	205	218					2																	166894441		2203	4300	6503	SO:0001583	missense	6323					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:166894441G>A	AB093548	CCDS33316.1, CCDS54413.1, CCDS54414.1	2q24.3	2014-09-17	2007-01-23		ENSG00000144285	ENSG00000144285		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10585	protein-coding gene	gene with protein product		182389	"febrile convulsions 3"	SCN1, FEB3		8062593, 16382098, 11823106	Standard	NM_006920		Approved	Nav1.1, GEFSP2, HBSCI, NAC1, SMEI	uc021vsb.1	P35498	OTTHUMG00000044173	ENST00000303395.4:c.2791C>T	2.37:g.166894441G>A	ENSP00000303540:p.Arg931Cys					AC010127.3_ENST00000599041.1_RNA|AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000375405.3_Missense_Mutation_p.R920C|SCN1A_ENST00000303395.4_Missense_Mutation_p.R931C|AC010127.3_ENST00000595268.1_RNA|SCN1A_ENST00000409050.1_Missense_Mutation_p.R903C	p.R931C	NM_001165963.1|NM_001202435.1	NP_001159435.1|NP_001189364.1	P35498	SCN1A_HUMAN			15	2808	-			931		R -> C (in SMEI; dbSNP:rs121918788).			E9PG49|Q16172|Q585T7|Q8IUJ6|Q96LA3|Q9C008	Missense_Mutation	SNP	ENST00000303395.4	37	c.2791C>T	CCDS54413.1	.	.	.	.	.	.	.	.	.	.	G	17.76	3.469793	0.63625	.	.	ENSG00000144285	ENST00000423058;ENST00000303395;ENST00000375405;ENST00000409050	D;D;D;D	0.98585	-5.01;-5.01;-5.01;-5.01	5.18	5.18	0.71444	Ion transport (1);	0.000000	0.64402	D	0.000002	D	0.99480	0.9815	H	0.98754	4.32	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.87578	0.981;0.998;0.99	D	0.97981	1.0349	10	0.87932	D	0	.	19.0487	0.93032	0.0:0.0:1.0:0.0	.	920;903;931	P35498-2;E9PG49;P35498	.;.;SCN1A_HUMAN	C	931;931;920;903	ENSP00000407030:R931C;ENSP00000303540:R931C;ENSP00000364554:R920C;ENSP00000386312:R903C	ENSP00000303540:R931C	R	-	1	0	SCN1A	166602687	1.000000	0.71417	1.000000	0.80357	0.924000	0.55760	7.804000	0.85993	2.583000	0.87209	0.591000	0.81541	CGC		0.512	SCN1A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102661.1	NM_006920		61	152	0	0	0	1	0	61	152					A	166894441	G	A	166894441	3	1	305	1	0	0	0	0	1	0	0	0	13914	1145	40	1	3286	1	SCN1A	2	166894441	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	1418120	166894441	76304932	170	14687											
XIRP2	129446	broad.mit.edu	37	chr2	168067347	168067347	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agtggtctccctgaaggagcGgatggcgaggtaccaggcag	9	6	17	9	2	1	1	0	1	1	0	2	4	1	3	2	6	2	2	2	6	2	1	rs534855387		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr2:168067347G>A	ENST00000409728.1	+	5	853	c.764G>A	c.(763-765)cGg>cAg	p.R255Q	XIRP2_ENST00000409605.1_5'UTR|XIRP2_ENST00000409195.1_Missense_Mutation_p.R222Q|XIRP2_ENST00000295237.9_Missense_Mutation_p.R222Q|XIRP2_ENST00000409273.1_5'UTR|XIRP2_ENST00000420519.1_Missense_Mutation_p.R255Q|XIRP2_ENST00000409756.2_Missense_Mutation_p.R222Q|XIRP2_ENST00000409043.1_Missense_Mutation_p.R222Q	NM_001199143.1	NP_001186072.1	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	47					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						CTGAAGGAGCGGATGGCGAGG	0.557													G|||	1	0.000199681	0	0	5008	,	,		15841	0		0	False		,,,				2504	0.001					ENST00000409195.1																			0				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						c.(664-666)cGg>cAg		xin actin-binding repeat containing 2							103	109	107					2																	168067347		2067	4205	6272	SO:0001583	missense	129446				actin cytoskeleton organization	cell junction	actin binding	g.chr2:168067347G>A	AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"myomaxin"	609778	"cardiomyopathy associated 3"	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409728.1:c.764G>A	2.37:g.168067347G>A	ENSP00000386619:p.Arg255Gln					XIRP2_ENST00000409043.1_Missense_Mutation_p.R222Q|XIRP2_ENST00000420519.1_Missense_Mutation_p.R255Q|XIRP2_ENST00000409728.1_Missense_Mutation_p.R255Q|XIRP2_ENST00000409605.1_5'UTR|XIRP2_ENST00000295237.9_Missense_Mutation_p.R222Q|XIRP2_ENST00000409273.1_5'UTR|XIRP2_ENST00000409756.2_Missense_Mutation_p.R222Q	p.R222Q	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN			4	754	+			47					A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Missense_Mutation	SNP	ENST00000409728.1	37	c.665G>A	CCDS56143.1	.	.	.	.	.	.	.	.	.	.	G	27.0	4.788937	0.90367	.	.	ENSG00000163092	ENST00000409043;ENST00000409728;ENST00000409195;ENST00000409756;ENST00000420519;ENST00000295237	D;T;T;D;T;T	0.81499	-1.5;-1.43;3.91;-1.5;-1.43;3.91	5.93	5.93	0.95920	.	0.000000	0.56097	D	0.000021	D	0.87625	0.6224	L	0.55481	1.735	0.35456	D	0.79612	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	D	0.88596	0.3146	10	0.39692	T	0.17	-10.9222	17.8445	0.88725	0.0:0.0:1.0:0.0	.	222;255;47	A4UGR9-4;A4UGR9-6;A4UGR9-3	.;.;.	Q	222;255;222;222;255;222	ENSP00000386454:R222Q;ENSP00000386619:R255Q;ENSP00000386840:R222Q;ENSP00000386724:R222Q;ENSP00000415541:R255Q;ENSP00000295237:R222Q	ENSP00000295237:R222Q	R	+	2	0	XIRP2	167775593	1.000000	0.71417	0.996000	0.52242	0.573000	0.36030	6.030000	0.70903	2.808000	0.96608	0.655000	0.94253	CGG		0.557	XIRP2-006	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333552.1	NM_152381		44	116	0	0	0	1	0	44	116					A	168067347	G	A	168067347	3	1	305	1	0	0	0	0	1	0	0	0	17427	1116	39	2	675	2	XIRP2	2	168067347	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	1172906	168067347	75132026	171	14688											
LRP2	4036	broad.mit.edu	37	chr2	170099968	170099968	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttgtcaccatcacagacaaaCgataggtcaatacatcgatg	15	9	7	10	2	3	1	3	0	0	1	4	3	3	1	1	1	2	0	1	1	4	3	rs186494101		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr2:170099968C>T	ENST00000263816.3	-	23	3780	c.3495G>A	c.(3493-3495)tcG>tcA	p.S1165S	LRP2_ENST00000443831.1_Silent_p.S1028S	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	1165	LDL-receptor class A 11. {ECO:0000255|PROSITE-ProRule:PRU00124}.				cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"	CACAGACAAACGATAGGTCAA	0.373													C|||	1	0.000199681	0	0.0014	5008	,	,		21200	0		0	False		,,,				2504	0					ENST00000263816.3																			0				biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315						c.(3493-3495)tcG>tcA		low density lipoprotein receptor-related protein 2	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)						257	223	235					2																	170099968		2203	4300	6503	SO:0001819	synonymous_variant	4036				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding	g.chr2:170099968C>T		CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"Low density lipoprotein receptors"	6694	protein-coding gene	gene with protein product	"megalin"	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.3495G>A	2.37:g.170099968C>T						LRP2_ENST00000443831.1_Silent_p.S1028S	p.S1165S	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN		STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	23	3780	-			1165			LDL-receptor class A 11.		O00711|Q16215	Silent	SNP	ENST00000263816.3	37	c.3495G>A	CCDS2232.1																																																																																				0.373	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2	NM_004525		27	98	0	0	0	1	0	27	98					T	170099968	C	T	170099968	2	4	305	1	0	0	0	0	0	0	0	1	8956	523	19	1		1	LRP2	2	170099968	Silent	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	2032621	170099968	73099405	172	14689											
HOXD10	3236	broad.mit.edu	37	chr2	176983939	176983939	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accggatccgagaactgaccGccaacctcacgttttcttag	10	9	8	14	4	2	2	1	1	1	1	3	4	3	3	5	1	2	1	5	1	3	3			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr2:176983939G>A	ENST00000249501.4	+	2	1258	c.1003G>A	c.(1003-1005)Gcc>Acc	p.A335T	HOXD-AS2_ENST00000440016.2_RNA|HOXD10_ENST00000490088.2_3'UTR	NM_002148.3	NP_002139.2	P28358	HXD10_HUMAN	homeobox D10	335					adult locomotory behavior (GO:0008344)|anterior/posterior pattern specification (GO:0009952)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal system morphogenesis (GO:0048704)|forelimb morphogenesis (GO:0035136)|hindlimb morphogenesis (GO:0035137)|neuromuscular process (GO:0050905)|peripheral nervous system neuron development (GO:0048935)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proximal/distal pattern formation (GO:0009954)|single fertilization (GO:0007338)|skeletal muscle tissue development (GO:0007519)|spinal cord motor neuron cell fate specification (GO:0021520)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	17			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	Colorectal(32;0.0226)|READ - Rectum adenocarcinoma(9;0.0556)		AGAACTGACCGCCAACCTCAC	0.577																																						ENST00000249501.4																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	17						c.(1003-1005)Gcc>Acc		homeobox D10							34	36	35					2																	176983939		2203	4299	6502	SO:0001583	missense	3236					nucleus	sequence-specific DNA binding	g.chr2:176983939G>A		CCDS2266.1	2q31.1	2014-09-17	2005-12-22		ENSG00000128710	ENSG00000128710		"Homeoboxes / ANTP class : HOXL subclass"	5133	protein-coding gene	gene with protein product		142984	"homeo box D10"	HOX4, HOX4D		1973146, 1358459	Standard	NM_002148		Approved		uc002ukj.3	P28358	OTTHUMG00000132511	ENST00000249501.4:c.1003G>A	2.37:g.176983939G>A	ENSP00000249501:p.Ala335Thr					HOXD10_ENST00000490088.2_3'UTR	p.A335T	NM_002148.3	NP_002139.2	P28358	HXD10_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	Colorectal(32;0.0226)|READ - Rectum adenocarcinoma(9;0.0556)	2	1258	+			335					Q6NT10	Missense_Mutation	SNP	ENST00000249501.4	37	c.1003G>A	CCDS2266.1	.	.	.	.	.	.	.	.	.	.	G	16.66	3.184634	0.57909	.	.	ENSG00000128710	ENST00000249501	D	0.94576	-3.46	5.94	5.94	0.96194	.	0.053033	0.85682	D	0.000000	D	0.89104	0.6620	N	0.20807	0.61	0.52501	D	0.999953	P	0.35908	0.527	B	0.26517	0.07	D	0.87563	0.2473	10	0.36615	T	0.2	.	19.9695	0.97278	0.0:0.0:1.0:0.0	.	335	P28358	HXD10_HUMAN	T	335	ENSP00000249501:A335T	ENSP00000249501:A335T	A	+	1	0	HOXD10	176692185	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.348000	0.79366	2.816000	0.96949	0.561000	0.74099	GCC		0.577	HOXD10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255692.2			17	44	0	0	0	1	0	17	44					A	176983939	G	A	176983939	3	1	305	1	0	0	0	0	1	0	0	0	7319	1087	38	1	1009	1	HOXD10	2	176983939	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	6883971	176983939	66215434	173	14690											
TTN	7273	broad.mit.edu	37	chr2	179399405	179399406	+	Frame_Shift_Ins	INS	-	-	G																															cttcaggtgcatagtattctINSggggcagtgaatagaagcct																								rs200238877	byFrequency	TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr2:179399405_179399406insG	ENST00000591111.1	-	308	97237_97238	c.97013_97014insC	c.(97012-97014)ccafs	p.P32338fs	TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Frame_Shift_Ins_p.P25039fs|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342992.6_Frame_Shift_Ins_p.P31411fs|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN_ENST00000342175.6_Frame_Shift_Ins_p.P25106fs|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000415561.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN_ENST00000589042.1_Frame_Shift_Ins_p.P33979fs|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN_ENST00000460472.2_Frame_Shift_Ins_p.P24914fs|TTN-AS1_ENST00000592182.1_RNA			Q8WZ42	TITIN_HUMAN	titin	32338	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CATAGTATTCTGGGGCAGTGAA	0.45																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(101935-101937)cgafs		titin																																				SO:0001589	frameshift_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179399405_179399406insG	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.97014dupC	2.37:g.179399409_179399409dupG	ENSP00000465570:p.Pro32338fs					TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Frame_Shift_Ins_p.R31411fs|TTN_ENST00000460472.2_Frame_Shift_Ins_p.R24914fs|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342175.6_Frame_Shift_Ins_p.R25106fs|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000591111.1_Frame_Shift_Ins_p.R32338fs|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN_ENST00000359218.5_Frame_Shift_Ins_p.R25039fs|TTN-AS1_ENST00000588257.1_RNA	p.R33979fs	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		358	102160_102161	-			32338			Ig-like 150.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Frame_Shift_Ins	INS	ENST00000591111.1	37	c.101936_101937insC																																																																																					0.45	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		8	69						8	69	---	---	---	---	G	179399406	-	G	179399405	7	5	305	1	0	1	1	0	0	0	0	0	16732	1567	55	0	6062	0	TTN	2	179399405	Frame_Shift_Ins	INS	-	TCGA-KK-A59V-01A-11D-A29Q-08	2415466	179399405	63799968	174	14691											
TTN	7273	broad.mit.edu	37	chr2	179401235	179401235	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ccatcactggcaggtggcttCcaggccacaacacaagaatc	12	6	9	14	0	1	1	1	0	0	1	3	1	2	1	3	4	1	2	3	4	3	1			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr2:179401235C>A	ENST00000591111.1	-	307	95540	c.95316G>T	c.(95314-95316)tgG>tgT	p.W31772C	TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.W24473C|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.W30845C|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.W24540C|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000415561.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.W33413C|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.W24348C|TTN-AS1_ENST00000592182.1_RNA			Q8WZ42	TITIN_HUMAN	titin	31772	Fibronectin type-III 131. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CAGGTGGCTTCCAGGCCACAA	0.403																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(100237-100239)tgG>tgT		titin							65	65	65					2																	179401235		1839	4101	5940	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179401235C>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.95316G>T	2.37:g.179401235C>A	ENSP00000465570:p.Trp31772Cys					TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.W24473C|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.W24540C|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.W30845C|TTN-AS1_ENST00000589434.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.W24348C|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.W31772C|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000431259.2_RNA	p.W33413C	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		357	100463	-			31772					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.100239G>T		.	.	.	.	.	.	.	.	.	.	C	16.83	3.230638	0.58777	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	D;D;D;D	0.86297	-2.1;-2.1;-2.1;-2.1	5.76	5.76	0.90799	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.96620	0.8897	H	0.98559	4.265	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.999;0.999	D	0.97777	1.0230	9	0.87932	D	0	.	19.9595	0.97236	0.0:1.0:0.0:0.0	.	24348;24473;24540;31772	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	C	30845;24348;24540;24473;24345	ENSP00000343764:W30845C;ENSP00000434586:W24348C;ENSP00000340554:W24540C;ENSP00000352154:W24473C	ENSP00000340554:W24540C	W	-	3	0	TTN	179109481	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.818000	0.86416	2.706000	0.92434	0.563000	0.77884	TGG		0.403	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		5	74	1	0	8.12818e-05	1	8.30472e-05	5	74					A	179401235	C	A	179401235	3	1	305	1	0	0	0	0	1	0	0	0	16732	856	30	5	7764	5	TTN	2	179401235	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	1830	179401235	63798138	175	14692											
TTN	7273	broad.mit.edu	37	chr2	179412307	179412307	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagctgttgtacccgattcaCgcttttcaactatgtaatta	11	15	6	9	2	2	0	2	0	0	0	2	1	2	0	1	0	3	5	1	0	6	8	rs181104321	byFrequency	TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr2:179412307C>T	ENST00000591111.1	-	289	89347	c.89123G>A	c.(89122-89124)cGt>cAt	p.R29708H	TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R22409H|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R28781H|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R22476H|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586452.1_RNA|RP11-65L3.2_ENST00000603415.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.R31349H|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R22284H			Q8WZ42	TITIN_HUMAN	titin	29708	Fibronectin type-III 116. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ACCCGATTCACGCTTTTCAAC	0.423													C|||	6	0.00119808	8e-04	0.0014	5008	,	,		20556	0		0.004	False		,,,				2504	0					ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(94045-94047)cGt>cAt		titin		C	HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG	4,3864		0,4,1930	102	102	102		66851,86342,67226,67427	5.9	1	2		102	7,8257		0,7,4125	yes	missense,missense,missense,missense	TTN	NM_003319.4,NM_133378.4,NM_133432.3,NM_133437.3	29,29,29,29	0,11,6055	TT,TC,CC		0.0847,0.1034,0.0907	probably-damaging,probably-damaging,probably-damaging,probably-damaging	22284/26927,28781/33424,22409/27052,22476/27119	179412307	11,12121	1934	4132	6066	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179412307C>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.89123G>A	2.37:g.179412307C>T	ENSP00000465570:p.Arg29708His					TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R22409H|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R22476H|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R28781H|TTN_ENST00000460472.2_Missense_Mutation_p.R22284H|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.R29708H	p.R31349H	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		339	94270	-			29708			Fibronectin type-III 128.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.94046G>A		4	0.0018315018315018315	0	0.0	0	0.0	0	0.0	4	0.005277044854881266	C	20.7	4.034167	0.75617	0.001034	8.47E-4	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.59502	0.26;0.26;0.26;0.26	5.92	5.92	0.95590	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.75889	0.3911	M	0.86573	2.825	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.999;0.999	T	0.81265	-0.1011	9	0.87932	D	0	.	20.3081	0.98638	0.0:1.0:0.0:0.0	.	22284;22409;22476;29708	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	H	28781;22284;22476;22409;22281	ENSP00000343764:R28781H;ENSP00000434586:R22284H;ENSP00000340554:R22476H;ENSP00000352154:R22409H	ENSP00000340554:R22476H	R	-	2	0	TTN	179120553	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	7.818000	0.86416	2.795000	0.96236	0.655000	0.94253	CGT		0.423	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		24	61	0	0	0	1	0	24	61					T	179412307	C	T	179412307	3	4	305	1	0	0	0	0	1	0	0	0	16732	536	19	1	14029	1	TTN	2	179412307	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	11072	179412307	63787066	176	14693											
TTN	7273	broad.mit.edu	37	chr2	179447832	179447833	+	Frame_Shift_Ins	INS	-	-	T																															ggttttagcagtgtgccatcINSttttttccaagaaactgttg																										TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr2:179447832_179447833insT	ENST00000591111.1	-	263	60998_60999	c.60774_60775insA	c.(60772-60777)aaagatfs	p.D20259fs	TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Frame_Shift_Ins_p.D12960fs|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342992.6_Frame_Shift_Ins_p.D19332fs|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000342175.6_Frame_Shift_Ins_p.D13027fs|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586452.1_RNA|RP11-171I2.2_ENST00000603521.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000590743.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000589042.1_Frame_Shift_Ins_p.D21900fs|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000460472.2_Frame_Shift_Ins_p.D12835fs			Q8WZ42	TITIN_HUMAN	titin	20259	Ig-like 111.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.D12960fs*40(1)|p.D12835fs*40(1)|p.D13027fs*40(1)|p.D19330fs*40(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AGTGTGCCATCTTTTTTCCAAG	0.46																																						ENST00000589042.1																			4	Insertion - Frameshift(4)	p.D12960fs*40(1)|p.D12835fs*40(1)|p.D13027fs*40(1)|p.D19330fs*40(1)	large_intestine(4)	NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(65695-65700)aaatggfs		titin																																				SO:0001589	frameshift_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179447832_179447833insT	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.60775dupA	2.37:g.179447838_179447838dupT	ENSP00000465570:p.Asp20259fs					TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Frame_Shift_Ins_p.W19332fs|TTN_ENST00000460472.2_Frame_Shift_Ins_p.W12835fs|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342175.6_Frame_Shift_Ins_p.W13027fs|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000591111.1_Frame_Shift_Ins_p.W20259fs|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000359218.5_Frame_Shift_Ins_p.W12960fs	p.W21900fs	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		313	65921_65922	-			20259			Fibronectin type-III 59.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Frame_Shift_Ins	INS	ENST00000591111.1	37	c.65697_65698insA																																																																																					0.46	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		9	21						9	21	---	---	---	---	T	179447833	-	T	179447832	7	5	305	1	0	1	1	0	0	0	0	0	16732	913	32	0	42481	0	TTN	2	179447832	Frame_Shift_Ins	INS	-	TCGA-KK-A59V-01A-11D-A29Q-08	35525	179447832	63751541	177	14694											
TTN	7273	broad.mit.edu	37	chr2	179481223	179481223	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cactttagtccatgttttccGgctgacttctcgtttttcaa	6	18	6	11	2	2	1	1	1	1	0	5	1	4	1	2	1	0	3	2	1	2	7			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr2:179481223G>A	ENST00000591111.1	-	207	43596	c.43372C>T	c.(43372-43374)Cgg>Tgg	p.R14458W	TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R7159W|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R13531W|TTN_ENST00000342175.6_Missense_Mutation_p.R7226W|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000604956.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.R16099W|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R7034W|RP11-171I2.4_ENST00000605334.1_lincRNA			Q8WZ42	TITIN_HUMAN	titin	14458	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CATGTTTTCCGGCTGACTTCT	0.433																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(48295-48297)Cgg>Tgg		titin							197	182	186					2																	179481223		1944	4152	6096	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179481223G>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.43372C>T	2.37:g.179481223G>A	ENSP00000465570:p.Arg14458Trp					TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R7159W|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R7226W|TTN_ENST00000342992.6_Missense_Mutation_p.R13531W|TTN_ENST00000460472.2_Missense_Mutation_p.R7034W|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.R14458W	p.R16099W	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		257	48519	-			14458			Ig-like 99.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.48295C>T		.	.	.	.	.	.	.	.	.	.	G	14.96	2.691795	0.48097	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.57907	0.37;0.37;0.37;0.37	5.91	5.02	0.67125	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.72128	0.3422	M	0.75447	2.3	0.50632	D	0.999888	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	T	0.76255	-0.3026	9	0.87932	D	0	.	14.6874	0.69059	0.0:0.0:0.7363:0.2637	.	7034;7159;7226;14458	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	W	13531;7034;7226;7159;7034	ENSP00000343764:R13531W;ENSP00000434586:R7034W;ENSP00000340554:R7226W;ENSP00000352154:R7159W	ENSP00000340554:R7226W	R	-	1	2	TTN	179189468	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.761000	0.55242	1.474000	0.48178	0.655000	0.94253	CGG		0.433	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		5	149	0	0	0	1	0	5	149					A	179481223	G	A	179481223	3	1	305	1	0	0	0	0	1	0	0	0	16732	1115	39	2	59822	2	TTN	2	179481223	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	33391	179481223	63718150	178	14695											
TTN	7273	broad.mit.edu	37	chr2	179501179	179501179	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tttgtttcccaaacgtaaaaCacaggtgtattcaccagcat	13	12	6	10	1	1	0	1	0	0	0	2	0	2	0	2	1	3	4	2	1	4	5			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr2:179501179C>T	ENST00000591111.1	-	175	36576	c.36352G>A	c.(36352-36354)Gtt>Att	p.V12118I	TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.V4819I|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.V11191I|TTN_ENST00000342175.6_Missense_Mutation_p.V4886I|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000418062.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.V13759I|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.V4694I			Q8WZ42	TITIN_HUMAN	titin	12118	Ig-like 80.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AAACGTAAAACACAGGTGTAT	0.378																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(41275-41277)Gtt>Att		titin							65	62	63					2																	179501179		1832	4093	5925	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179501179C>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.36352G>A	2.37:g.179501179C>T	ENSP00000465570:p.Val12118Ile					TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.V4819I|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.V4886I|TTN_ENST00000342992.6_Missense_Mutation_p.V11191I|TTN_ENST00000460472.2_Missense_Mutation_p.V4694I|TTN_ENST00000591111.1_Missense_Mutation_p.V12118I	p.V13759I	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		225	41499	-			12118			Ig-like 94.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.41275G>A		.	.	.	.	.	.	.	.	.	.	C	15.72	2.917583	0.52546	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.68181	-0.31;-0.31;-0.31;-0.31	5.76	5.76	0.90799	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.65460	0.2693	L	0.35644	1.08	0.49687	D	0.999813	P;P;P;P	0.41978	0.619;0.619;0.619;0.767	B;B;B;B	0.43331	0.172;0.172;0.172;0.416	T	0.68746	-0.5327	9	0.87932	D	0	.	19.9641	0.97260	0.0:1.0:0.0:0.0	.	4694;4819;4886;12118	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	I	11191;4694;4886;4819;4694	ENSP00000343764:V11191I;ENSP00000434586:V4694I;ENSP00000340554:V4886I;ENSP00000352154:V4819I	ENSP00000340554:V4886I	V	-	1	0	TTN	179209424	1.000000	0.71417	0.996000	0.52242	0.997000	0.91878	6.034000	0.70933	2.719000	0.93026	0.650000	0.86243	GTT		0.378	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		6	51	0	0	0	1	0	6	51					T	179501179	C	T	179501179	3	4	305	1	0	0	0	0	1	0	0	0	16732	478	17	3	66970	3	TTN	2	179501179	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	19956	179501179	63698194	179	14696											
TTN	7273	broad.mit.edu	37	chr2	179638572	179638573	+	Frame_Shift_Del	DEL	AG	AG	-																															aattaggactcactatagacAgagacacgcccactggtgga																										TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr2:179638572_179638573delAG	ENST00000591111.1	-	31	7546_7547	c.7322_7323delCT	c.(7321-7323)tctfs	p.S2441fs	TTN_ENST00000359218.5_Frame_Shift_Del_p.S2395fs|TTN-AS1_ENST00000610005.1_RNA|TTN_ENST00000342992.6_Frame_Shift_Del_p.S2441fs|TTN_ENST00000360870.5_Frame_Shift_Del_p.S2441fs|TTN_ENST00000342175.6_Frame_Shift_Del_p.S2395fs|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000584485.1_RNA|TTN_ENST00000589042.1_Frame_Shift_Del_p.S2441fs|TTN_ENST00000460472.2_Frame_Shift_Del_p.S2395fs			Q8WZ42	TITIN_HUMAN	titin	12763	Ig-like 13.|Ig-like 14.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CACTATAGACAGAGACACGCCC	0.381																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(7321-7323)tfs		titin																																				SO:0001589	frameshift_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179638572_179638573delAG	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.7322_7323delCT	2.37:g.179638574_179638575delAG	ENSP00000465570:p.Ser2441fs					TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Frame_Shift_Del_p.S2441fs|TTN_ENST00000460472.2_Frame_Shift_Del_p.S2395fs|TTN_ENST00000342175.6_Frame_Shift_Del_p.S2395fs|TTN_ENST00000591111.1_Frame_Shift_Del_p.S2441fs|TTN-AS1_ENST00000584485.1_RNA|TTN_ENST00000360870.5_Frame_Shift_Del_p.S2441fs|TTN_ENST00000359218.5_Frame_Shift_Del_p.S2395fs	p.S2441fs	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		31	7546_7547	-			2167			Ig-like 13.|Ig-like 14.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Frame_Shift_Del	DEL	ENST00000591111.1	37	c.7322_7323delCT																																																																																					0.381	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		15	69						15	69	---	---	---	---	-	179638573	AG	-	179638572	7	5	305	1	0	1	0	1	0	0	0	0	16732	175	7	0	103993	0	TTN	2	179638572	Frame_Shift_Del	DEL	AG	TCGA-KK-A59V-01A-11D-A29Q-08	137393	179638572	63560801	180	14697											
DNAJC10	54431	broad.mit.edu	37	chr2	183582840	183582840	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtctggttaaataaagatgaCtatatcagagacttgaaaag	17	11	9	4	0	2	4	1	2	1	2	2	5	2	4	0	1	0	1	0	1	8	5			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr2:183582840C>A	ENST00000264065.7	+	3	442	c.27C>A	c.(25-27)gaC>gaA	p.D9E	DNAJC10_ENST00000469118.1_Intron|DNAJC10_ENST00000537515.1_Missense_Mutation_p.D9E	NM_018981.1	NP_061854.1	Q8IXB1	DJC10_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 10	9					cell redox homeostasis (GO:0045454)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|negative regulation of protein phosphorylation (GO:0001933)|positive regulation of ATPase activity (GO:0032781)|protein folding in endoplasmic reticulum (GO:0034975)|response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum chaperone complex (GO:0034663)|endoplasmic reticulum lumen (GO:0005788)|membrane (GO:0016020)	ATPase activator activity (GO:0001671)|ATPase binding (GO:0051117)|chaperone binding (GO:0051087)|disulfide oxidoreductase activity (GO:0015036)|Hsp70 protein binding (GO:0030544)|misfolded protein binding (GO:0051787)|oxidoreductase activity, acting on a sulfur group of donors, disulfide as acceptor (GO:0016671)|protein disulfide oxidoreductase activity (GO:0015035)			breast(3)|endometrium(1)|kidney(4)|large_intestine(7)|lung(15)|ovary(1)|skin(1)	32			OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)			ATAAAGATGACTATATCAGAG	0.353																																					Pancreas(56;860 1183 25669 35822 48585)	ENST00000264065.6																			0				breast(3)|endometrium(1)|kidney(4)|large_intestine(7)|lung(15)|ovary(1)|skin(1)	32						c.(25-27)gaC>gaA		DnaJ (Hsp40) homolog, subfamily C, member 10							95	98	97					2																	183582840		2203	4300	6503	SO:0001583	missense	54431				apoptosis in response to endoplasmic reticulum stress|cell redox homeostasis|ER-associated protein catabolic process|glycerol ether metabolic process|negative regulation of protein phosphorylation|protein folding|response to endoplasmic reticulum stress	endoplasmic reticulum chaperone complex|endoplasmic reticulum lumen|extracellular region	ATPase activator activity|ATPase binding|chaperone binding|electron carrier activity|heat shock protein binding|misfolded protein binding|protein disulfide oxidoreductase activity|unfolded protein binding	g.chr2:183582840C>A		CCDS33345.1, CCDS74613.1	2q32.1	2011-11-23			ENSG00000077232	ENSG00000077232		"Heat shock proteins / DNAJ (HSP40)", "Protein disulfide isomerases"	24637	protein-coding gene	gene with protein product	"protein disulfide isomerase family A, member 19"	607987				12411443, 12446677	Standard	NM_018981		Approved	ERdj5, PDIA19	uc002uow.2	Q8IXB1	OTTHUMG00000154209	ENST00000264065.7:c.27C>A	2.37:g.183582840C>A	ENSP00000264065:p.Asp9Glu					DNAJC10_ENST00000537515.1_Missense_Mutation_p.D9E|DNAJC10_ENST00000469118.1_Intron	p.D9E	NM_018981.1	NP_061854.1	Q8IXB1	DJC10_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)		3	442	+			9					Q17RJ6|Q3B7W8|Q4ZG06|Q53QT7|Q6UWZ6|Q86T61|Q8NC82|Q8TD87|Q96K38|Q96K44|Q96K54|Q9NSY6	Missense_Mutation	SNP	ENST00000264065.7	37	c.27C>A	CCDS33345.1	.	.	.	.	.	.	.	.	.	.	C	11.53	1.664863	0.29604	.	.	ENSG00000077232	ENST00000264065;ENST00000392392;ENST00000537410;ENST00000537515	T;T	0.41758	1.37;0.99	5.62	1.76	0.24704	.	0.588311	0.18889	N	0.128376	T	0.25568	0.0622	L	0.27053	0.805	0.09310	N	1	B;B	0.06786	0.0;0.001	B;B	0.06405	0.002;0.002	T	0.14117	-1.0484	10	0.39692	T	0.17	.	6.0433	0.19746	0.1251:0.591:0.0:0.2839	.	9;9	Q8IXB1-2;Q8IXB1	.;DJC10_HUMAN	E	9	ENSP00000264065:D9E;ENSP00000441560:D9E	ENSP00000264065:D9E	D	+	3	2	DNAJC10	183291085	0.008000	0.16893	0.366000	0.25914	0.953000	0.61014	0.029000	0.13666	0.318000	0.23185	-0.145000	0.13849	GAC		0.353	DNAJC10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334418.2	NM_018981		18	48	1	0	2.4624e-09	1	2.54714e-09	18	48					A	183582840	C	A	183582840	3	1	305	1	0	0	0	0	1	0	0	0	4629	564	20	5	29	5	DNAJC10	2	183582840	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	3944268	183582840	59616533	181	14698											
ITGAV	3685	broad.mit.edu	37	chr2	187521085	187521085	+	Frame_Shift_Del	DEL	G	G	-																															caagaacatgactatttcaaGggggggactgatgcagtgtg																								rs567294324		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr2:187521085delG	ENST00000261023.3	+	17	1950	c.1676delG	c.(1675-1677)aggfs	p.R559fs	ITGAV_ENST00000433736.2_Frame_Shift_Del_p.R513fs|AC017101.10_ENST00000453665.1_RNA|ITGAV_ENST00000374907.3_Frame_Shift_Del_p.R523fs	NM_002210.3	NP_002201	P06756	ITAV_HUMAN	integrin, alpha V	559					angiogenesis (GO:0001525)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apolipoprotein A-I-mediated signaling pathway (GO:0038027)|apoptotic cell clearance (GO:0043277)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cell adhesion (GO:0007155)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cell-substrate adhesion (GO:0031589)|endodermal cell differentiation (GO:0035987)|entry of symbiont into host cell by promotion of host phagocytosis (GO:0052066)|ERK1 and ERK2 cascade (GO:0070371)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|negative chemotaxis (GO:0050919)|negative regulation of entry of bacterium into host cell (GO:2000536)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of lipid storage (GO:0010888)|negative regulation of lipid transport (GO:0032369)|negative regulation of lipoprotein metabolic process (GO:0050748)|negative regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045715)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of osteoblast proliferation (GO:0033690)|regulation of apoptotic cell clearance (GO:2000425)|regulation of phagocytosis (GO:0050764)|substrate adhesion-dependent cell spreading (GO:0034446)|viral entry into host cell (GO:0046718)	alphav-beta3 integrin-IGF-1-IGF1R complex (GO:0035867)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|integrin alphav-beta3 complex (GO:0034683)|integrin alphav-beta5 complex (GO:0034684)|integrin alphav-beta8 complex (GO:0034686)|integrin complex (GO:0008305)|lamellipodium membrane (GO:0031258)|membrane (GO:0016020)|microvillus membrane (GO:0031528)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	extracellular matrix binding (GO:0050840)|extracellular matrix protein binding (GO:1990430)|fibronectin binding (GO:0001968)|metal ion binding (GO:0046872)|protease binding (GO:0002020)|transforming growth factor beta binding (GO:0050431)|virus receptor activity (GO:0001618)|voltage-gated calcium channel activity (GO:0005245)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47			OV - Ovarian serous cystadenocarcinoma(117;0.0185)|Epithelial(96;0.072)|all cancers(119;0.189)	STAD - Stomach adenocarcinoma(3;0.106)|COAD - Colon adenocarcinoma(31;0.108)	Antithymocyte globulin(DB00098)	ACTATTTCAAGGGGGGGACTG	0.428																																					Melanoma(58;108 1995 6081)	ENST00000261023.3																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47						c.(1675-1677)agfs		integrin, alpha V							249	235	239					2																	187521085		2203	4300	6503	SO:0001589	frameshift_variant	3685				angiogenesis|axon guidance|blood coagulation|cell-matrix adhesion|entry of bacterium into host cell|entry of symbiont into host cell by promotion of host phagocytosis|entry of virus into host cell|ERK1 and ERK2 cascade|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|positive regulation of cell adhesion|positive regulation of cell proliferation|regulation of apoptotic cell clearance	integrin complex	receptor activity|transforming growth factor beta binding	g.chr2:187521085delG		CCDS2292.1, CCDS46470.1, CCDS46471.1	2q31-q32	2012-04-20	2012-04-20		ENSG00000138448	ENSG00000138448		"CD molecules", "Integrins"	6150	protein-coding gene	gene with protein product		193210	"antigen identified by monoclonal antibody L230", "vitronectin receptor", "integrin, alpha V (vitronectin receptor, alpha polypeptide, antigen CD51)"	VNRA, MSK8, VTNR		2454952	Standard	NM_001144999		Approved	CD51	uc002upq.4	P06756	OTTHUMG00000132635	ENST00000261023.3:c.1676delG	2.37:g.187521085delG	ENSP00000261023:p.Arg559fs					AC017101.10_ENST00000453665.1_RNA|ITGAV_ENST00000433736.2_Frame_Shift_Del_p.R513fs|ITGAV_ENST00000374907.3_Frame_Shift_Del_p.R523fs	p.R559fs	NM_002210.3	NP_002201.1	P06756	ITAV_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0185)|Epithelial(96;0.072)|all cancers(119;0.189)	STAD - Stomach adenocarcinoma(3;0.106)|COAD - Colon adenocarcinoma(31;0.108)	17	1950	+			559					A0AV67|B0LPF4|B7Z883|B7ZLX0|D3DPG8|E7EWZ6|Q53SK4|Q59EB7|Q6LD15	Frame_Shift_Del	DEL	ENST00000261023.3	37	c.1676delG	CCDS2292.1																																																																																				0.428	ITGAV-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255882.2	NM_002210		67	179						67	179	---	---	---	---	-	187521085	G	-	187521085	7	5	305	1	0	1	0	1	0	0	0	0	7888	1000	35	0	1793	0	ITGAV	2	187521085	Frame_Shift_Del	DEL	G	TCGA-KK-A59V-01A-11D-A29Q-08	3938245	187521085	55678288	182	14699											
SPATS2L	26010	broad.mit.edu	37	chr2	201324531	201324531	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcattaatggcagaaatggaTaaagttaaagaagaagccag	19	8	10	4	0	1	3	1	0	0	3	1	4	1	4	1	2	1	2	1	2	8	3			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr2:201324531T>C	ENST00000358677.5	+	9	1075	c.828T>C	c.(826-828)gaT>gaC	p.D276D	SPATS2L_ENST00000409140.3_Silent_p.D276D|SPATS2L_ENST00000409718.1_Silent_p.D276D|SPATS2L_ENST00000360760.5_Silent_p.D207D|SPATS2L_ENST00000409385.1_Silent_p.D216D|SPATS2L_ENST00000409151.1_Silent_p.D284D|SPATS2L_ENST00000451764.2_Silent_p.D276D|SPATS2L_ENST00000409988.3_Silent_p.D276D|SPATS2L_ENST00000409755.3_Silent_p.D306D	NM_001282735.1|NM_001282743.1|NM_001282744.1|NM_015535.2	NP_001269664.1|NP_001269672.1|NP_001269673.1|NP_056350.2	Q9NUQ6	SPS2L_HUMAN	spermatogenesis associated, serine-rich 2-like	276						cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|protein complex (GO:0043234)	poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(1)|lung(4)|ovary(2)|pancreas(1)|prostate(1)	10						CAGAAATGGATAAAGTTAAAG	0.343																																						ENST00000409988.3																			0				endometrium(1)|kidney(1)|lung(4)|ovary(2)|pancreas(1)|prostate(1)	10						c.(826-828)gaT>gaC		spermatogenesis associated, serine-rich 2-like							73	68	70					2																	201324531		1817	4071	5888	SO:0001819	synonymous_variant	26010					cytoplasm|nucleolus		g.chr2:201324531T>C	AF193059	CCDS46483.1, CCDS46484.1, CCDS74621.1, CCDS74622.1	2q33.1	2009-06-12			ENSG00000196141	ENSG00000196141			24574	protein-coding gene	gene with protein product	"DNA polymerase transactivated protein 6"	613817				11230166	Standard	NM_001100422		Approved	DNAPTP6	uc002uvr.4	Q9NUQ6	OTTHUMG00000154589	ENST00000358677.5:c.828T>C	2.37:g.201324531T>C						SPATS2L_ENST00000409385.1_Silent_p.D216D|SPATS2L_ENST00000409140.3_Silent_p.D276D|SPATS2L_ENST00000409151.1_Silent_p.D284D|SPATS2L_ENST00000451764.2_Silent_p.D276D|SPATS2L_ENST00000360760.5_Silent_p.D207D|SPATS2L_ENST00000409755.3_Silent_p.D306D|SPATS2L_ENST00000358677.4_Silent_p.D276D|SPATS2L_ENST00000409718.1_Silent_p.D276D	p.D276D	NM_001100422.1	NP_001093892.1	Q9NUQ6	SPS2L_HUMAN			9	1351	+			276					A8K381|B4DRE6|B4DT67|B7WNZ7|Q53T22|Q8WV53|Q8WYG1|Q9NTW4	Silent	SNP	ENST00000358677.5	37	c.828T>C	CCDS46483.1	.	.	.	.	.	.	.	.	.	.	T	8.986	0.976607	0.18736	.	.	ENSG00000196141	ENST00000366118	.	.	.	5.49	-2.06	0.07298	.	.	.	.	.	T	0.57548	0.2061	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.54357	-0.8306	4	.	.	.	-25.0916	11.7158	0.51653	0.0:0.5502:0.0:0.4498	.	.	.	.	T	59	.	.	I	+	2	0	SPATS2L	201032776	0.991000	0.36638	0.987000	0.45799	0.998000	0.95712	0.005000	0.13129	-0.499000	0.06623	0.459000	0.35465	ATA		0.343	SPATS2L-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336208.3	NM_015535		4	18	0	0	0	1	0	4	18					C	201324531	T	C	201324531	2	2	305	1	0	0	0	0	0	0	0	1	15019	1403	49	4		4	SPATS2L	2	201324531	Silent	SNP	T	TCGA-KK-A59V-01A-11D-A29Q-08	13803446	201324531	41874842	183	14700											
SPATS2L	26010	broad.mit.edu	37	chr2	201337651	201337651	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aacctctgggaaacagagtaActtttcccgaaaatcatcca	15	9	6	11	1	2	1	1	0	1	1	4	3	4	2	3	1	3	1	3	1	5	3			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr2:201337651A>G	ENST00000358677.5	+	12	1404	c.1157A>G	c.(1156-1158)aAc>aGc	p.N386S	SPATS2L_ENST00000460095.1_3'UTR|SPATS2L_ENST00000409151.1_Missense_Mutation_p.N394S|SPATS2L_ENST00000409140.3_Missense_Mutation_p.N386S|SPATS2L_ENST00000409718.1_Missense_Mutation_p.N386S|SPATS2L_ENST00000360760.5_Missense_Mutation_p.N317S|SPATS2L_ENST00000409385.1_Missense_Mutation_p.N326S|SPATS2L_ENST00000451764.2_Missense_Mutation_p.N386S|SPATS2L_ENST00000409988.3_Missense_Mutation_p.N386S|SPATS2L_ENST00000409755.3_Missense_Mutation_p.N416S	NM_001282735.1|NM_001282743.1|NM_001282744.1|NM_015535.2	NP_001269664.1|NP_001269672.1|NP_001269673.1|NP_056350.2	Q9NUQ6	SPS2L_HUMAN	spermatogenesis associated, serine-rich 2-like	386						cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|protein complex (GO:0043234)	poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(1)|lung(4)|ovary(2)|pancreas(1)|prostate(1)	10						AAACAGAGTAACTTTTCCCGA	0.532																																						ENST00000409988.3																			0				endometrium(1)|kidney(1)|lung(4)|ovary(2)|pancreas(1)|prostate(1)	10						c.(1156-1158)aAc>aGc		spermatogenesis associated, serine-rich 2-like							70	75	74					2																	201337651		1979	4161	6140	SO:0001583	missense	26010					cytoplasm|nucleolus		g.chr2:201337651A>G	AF193059	CCDS46483.1, CCDS46484.1, CCDS74621.1, CCDS74622.1	2q33.1	2009-06-12			ENSG00000196141	ENSG00000196141			24574	protein-coding gene	gene with protein product	"DNA polymerase transactivated protein 6"	613817				11230166	Standard	NM_001100422		Approved	DNAPTP6	uc002uvr.4	Q9NUQ6	OTTHUMG00000154589	ENST00000358677.5:c.1157A>G	2.37:g.201337651A>G	ENSP00000351503:p.Asn386Ser					SPATS2L_ENST00000460095.1_3'UTR|SPATS2L_ENST00000451764.2_Missense_Mutation_p.N386S|SPATS2L_ENST00000409755.3_Missense_Mutation_p.N416S|SPATS2L_ENST00000409385.1_Missense_Mutation_p.N326S|SPATS2L_ENST00000409140.3_Missense_Mutation_p.N386S|SPATS2L_ENST00000409151.1_Missense_Mutation_p.N394S|SPATS2L_ENST00000360760.5_Missense_Mutation_p.N317S|SPATS2L_ENST00000358677.4_Missense_Mutation_p.N386S|SPATS2L_ENST00000409718.1_Missense_Mutation_p.N386S	p.N386S	NM_001100422.1	NP_001093892.1	Q9NUQ6	SPS2L_HUMAN			12	1680	+			386					A8K381|B4DRE6|B4DT67|B7WNZ7|Q53T22|Q8WV53|Q8WYG1|Q9NTW4	Missense_Mutation	SNP	ENST00000358677.5	37	c.1157A>G	CCDS46483.1	.	.	.	.	.	.	.	.	.	.	A	0.193	-1.051569	0.01981	.	.	ENSG00000196141	ENST00000409718;ENST00000358677;ENST00000409988;ENST00000409385;ENST00000451764;ENST00000360760;ENST00000409140;ENST00000409755;ENST00000409151	.	.	.	5.39	1.59	0.23543	.	0.350601	0.28488	N	0.015163	T	0.19846	0.0477	N	0.24115	0.695	0.09310	N	1	B;B;B	0.06786	0.0;0.001;0.0	B;B;B	0.08055	0.001;0.003;0.0	T	0.27938	-1.0059	9	0.02654	T	1	-13.7286	5.9161	0.19055	0.5924:0.2429:0.1647:0.0	.	416;317;386	B4DT67;Q9NUQ6-2;Q9NUQ6	.;.;SPS2L_HUMAN	S	386;386;386;326;386;317;386;416;394	.	ENSP00000351503:N386S	N	+	2	0	SPATS2L	201045896	0.003000	0.15002	0.898000	0.35279	0.579000	0.36224	-0.023000	0.12456	0.510000	0.28216	0.533000	0.62120	AAC		0.532	SPATS2L-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336208.3	NM_015535		18	72	0	0	0	1	0	18	72					G	201337651	A	G	201337651	3	3	305	1	0	0	0	0	1	0	0	0	15019	43	2	4	1195	4	SPATS2L	2	201337651	Missense_Mutation	SNP	A	TCGA-KK-A59V-01A-11D-A29Q-08	13120	201337651	41861722	184	14701											
TRAK2	66008	broad.mit.edu	37	chr2	202245769	202245769	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cactttggcagagatgcctcGctcttgtagaagtttggcca	8	12	11	10	1	1	2	0	0	1	2	2	3	1	2	2	2	1	4	2	2	2	4	rs199659556		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr2:202245769G>A	ENST00000332624.3	-	16	2670	c.2242C>T	c.(2242-2244)Cga>Tga	p.R748*		NM_015049.2	NP_055864.2	O60296	TRAK2_HUMAN	trafficking protein, kinesin binding 2	748					protein O-linked glycosylation (GO:0006493)|protein targeting (GO:0006605)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	cytoplasm (GO:0005737)|endosome (GO:0005768)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GABA receptor binding (GO:0050811)|receptor binding (GO:0005102)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(12)|ovary(1)|skin(1)	23						GAGATGCCTCGCTCTTGTAGA	0.512																																						ENST00000332624.3																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(12)|ovary(1)|skin(1)	23						c.(2242-2244)Cga>Tga		trafficking protein, kinesin binding 2							187	183	184					2																	202245769		2203	4300	6503	SO:0001587	stop_gained	66008					early endosome|plasma membrane	GABA receptor binding	g.chr2:202245769G>A	AB038951	CCDS2347.1	2q33.1	2012-03-05	2005-12-13	2005-12-13	ENSG00000115993	ENSG00000115993			13206	protein-coding gene	gene with protein product	"gamma-aminobutyric acid(A) receptor-interacting factor", "milton homolog 2 (Drosophila)", "O-linked N-acetylglucosamine transferase interacting protein 98"	607334	"amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 3"	ALS2CR3		11161814, 16380713, 20230862	Standard	NM_015049		Approved	CALS-C, KIAA0549, GRIF-1, OIP98, MILT2	uc002uyb.4	O60296	OTTHUMG00000132822	ENST00000332624.3:c.2242C>T	2.37:g.202245769G>A	ENSP00000328875:p.Arg748*						p.R748*	NM_015049.2	NP_055864.2	O60296	TRAK2_HUMAN			16	2670	-			748	Missing (in Ref. 2).				E7EV21|Q8WVH7|Q96NS2|Q9C0K5|Q9C0K6	Nonsense_Mutation	SNP	ENST00000332624.3	37	c.2242C>T	CCDS2347.1	.	.	.	.	.	.	.	.	.	.	G	41	8.773391	0.98948	.	.	ENSG00000115993	ENST00000332624;ENST00000542292	.	.	.	6.03	3.2	0.36748	.	0.162599	0.41396	D	0.000884	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.1361	0.36875	0.1265:0.0:0.7532:0.1202	.	.	.	.	X	748;654	.	ENSP00000328875:R748X	R	-	1	2	TRAK2	201954014	1.000000	0.71417	0.965000	0.40720	0.693000	0.40251	5.595000	0.67563	0.896000	0.36366	0.655000	0.94253	CGA		0.512	TRAK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256284.3	NM_015049		50	162	0	0	0	1	0	50	162					A	202245769	G	A	202245769	4	1	305	1	0	0	0	0	0	1	0	0	16447	1095	38	1	506	1	TRAK2	2	202245769	Nonsense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	908118	202245769	40953604	185	14702											
EEF1B2	1933	broad.mit.edu	37	chr2	207025333	207025333	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatgtgccatcacaagcagaTgtggcagtatttgaagccgt	11	11	11	8	1	1	2	1	1	0	1	1	2	1	2	2	1	3	3	2	1	4	3			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr2:207025333T>C	ENST00000392222.2	+	2	477	c.102T>C	c.(100-102)gaT>gaC	p.D34D	SNORA41_ENST00000384675.1_RNA|NDUFS1_ENST00000455934.2_5'Flank|NDUFS1_ENST00000423725.1_5'Flank|SNORD51_ENST00000384320.2_RNA|NDUFS1_ENST00000432169.1_5'Flank|EEF1B2_ENST00000392221.1_Silent_p.D34D|NDUFS1_ENST00000457011.1_5'Flank|NDUFS1_ENST00000233190.6_5'Flank|NDUFS1_ENST00000440274.1_5'Flank|NDUFS1_ENST00000449699.1_5'Flank|EEF1B2_ENST00000236957.5_Silent_p.D34D	NM_001959.3	NP_001950.1	P24534	EF1B_HUMAN	eukaryotic translation elongation factor 1 beta 2	34	GST C-terminal.				cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|translation (GO:0006412)|translational elongation (GO:0006414)	cytosol (GO:0005829)|eukaryotic translation elongation factor 1 complex (GO:0005853)	translation elongation factor activity (GO:0003746)			breast(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(6)	16						CACAAGCAGATGTGGCAGTAT	0.458																																						ENST00000392222.2																			0				breast(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(6)	16						c.(100-102)gaT>gaC		eukaryotic translation elongation factor 1 beta 2							102	93	96					2																	207025333		2203	4300	6503	SO:0001819	synonymous_variant	1933					cytosol|eukaryotic translation elongation factor 1 complex	protein binding|translation elongation factor activity	g.chr2:207025333T>C	X60489	CCDS2367.1	2q33.3	2011-04-28			ENSG00000114942	ENSG00000114942			3208	protein-coding gene	gene with protein product		600655				8250921	Standard	NM_001959		Approved		uc002vbf.1	P24534	OTTHUMG00000132891	ENST00000392222.2:c.102T>C	2.37:g.207025333T>C						EEF1B2_ENST00000236957.5_Silent_p.D34D|EEF1B2_ENST00000392221.1_Silent_p.D34D	p.D34D	NM_001959.3	NP_001950.1	P24534	EF1B_HUMAN			2	477	+			34			GST C-terminal.		A8K795|Q6IBH9	Silent	SNP	ENST00000392222.2	37	c.102T>C	CCDS2367.1																																																																																				0.458	EEF1B2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336436.1	NM_001037663		20	60	0	0	0	1	0	20	60					C	207025333	T	C	207025333	2	2	305	1	0	0	0	0	0	0	0	1	4925	1461	51	4		4	EEF1B2	2	207025333	Silent	SNP	T	TCGA-KK-A59V-01A-11D-A29Q-08	4779564	207025333	36174040	186	14703											
ADAM23	8745	broad.mit.edu	37	chr2	207425854	207425854	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcactgctttttcttaaggcGggtgacatttcactataaga	10	14	9	8	1	2	2	1	1	1	1	2	2	2	2	0	2	1	2	0	2	3	6	rs377701138		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr2:207425854G>A	ENST00000264377.3	+	12	1500	c.1172G>A	c.(1171-1173)cGg>cAg	p.R391Q	ADAM23_ENST00000374415.3_Missense_Mutation_p.R391Q|ADAM23_ENST00000374416.1_Missense_Mutation_p.R391Q	NM_003812.2	NP_003803.1	O75077	ADA23_HUMAN	ADAM metallopeptidase domain 23	391	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				cell adhesion (GO:0007155)|central nervous system development (GO:0007417)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(2)|breast(1)|endometrium(6)|kidney(3)|large_intestine(5)|liver(2)|lung(22)|ovary(2)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	51				LUSC - Lung squamous cell carcinoma(261;0.0961)|Lung(261;0.182)|Epithelial(149;0.205)		TTCTTAAGGCGGGTGACATTT	0.428																																					Melanoma(194;1127 2130 19620 24042 27855)	ENST00000264377.3																			0				NS(2)|breast(1)|endometrium(6)|kidney(3)|large_intestine(5)|liver(2)|lung(22)|ovary(2)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	51						c.(1171-1173)cGg>cAg		ADAM metallopeptidase domain 23		G	GLN/ARG	0,4406		0,0,2203	124	123	124		1172	5.9	1	2		124	1,8599	1.2+/-3.3	0,1,4299	no	missense	ADAM23	NM_003812.2	43	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging	391/833	207425854	1,13005	2203	4300	6503	SO:0001583	missense	8745				cell adhesion|central nervous system development|proteolysis	extracellular region|integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding	g.chr2:207425854G>A	AB009672	CCDS2369.1	2q33	2008-06-12	2005-08-18		ENSG00000114948	ENSG00000114948		"ADAM metallopeptidase domain containing"	202	protein-coding gene	gene with protein product		603710	"a disintegrin and metalloproteinase domain 23"			9693107	Standard	NM_003812		Approved	MDC3	uc002vbq.4	O75077	OTTHUMG00000132919	ENST00000264377.3:c.1172G>A	2.37:g.207425854G>A	ENSP00000264377:p.Arg391Gln					ADAM23_ENST00000374416.1_Missense_Mutation_p.R391Q|ADAM23_ENST00000374415.3_Missense_Mutation_p.R391Q	p.R391Q	NM_003812.2	NP_003803.1	O75077	ADA23_HUMAN		LUSC - Lung squamous cell carcinoma(261;0.0961)|Lung(261;0.182)|Epithelial(149;0.205)	12	1500	+			391			Peptidase M12B.		A2RU59	Missense_Mutation	SNP	ENST00000264377.3	37	c.1172G>A	CCDS2369.1	.	.	.	.	.	.	.	.	.	.	G	19.41	3.823082	0.71143	0.0	1.16E-4	ENSG00000114948	ENST00000264377;ENST00000374416;ENST00000431817;ENST00000374415	T;T;T	0.10477	2.87;2.87;2.87	5.92	5.92	0.95590	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.222801	0.31784	N	0.007071	T	0.05960	0.0155	N	0.08118	0	0.34626	D	0.719112	P	0.38922	0.651	B	0.36534	0.227	T	0.19976	-1.0289	10	0.59425	D	0.04	.	9.2062	0.37291	0.1202:0.0:0.8798:0.0	.	391	O75077	ADA23_HUMAN	Q	391;391;285;391	ENSP00000264377:R391Q;ENSP00000363537:R391Q;ENSP00000363536:R391Q	ENSP00000264377:R391Q	R	+	2	0	ADAM23	207134099	1.000000	0.71417	0.999000	0.59377	0.972000	0.66771	4.894000	0.63206	2.804000	0.96469	0.655000	0.94253	CGG		0.428	ADAM23-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256431.2	NM_003812		3	54	0	0	0	1	0	3	54					A	207425854	G	A	207425854	3	1	305	1	0	0	0	0	1	0	0	0	245	1116	39	2	1218	2	ADAM23	2	207425854	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	400521	207425854	35773519	187	14704											
PLCD4	84812	broad.mit.edu	37	chr2	219494309	219494309	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gacctagcggggaacctgtcGtttaccacggacacaccctg	9	7	11	14	3	0	0	0	0	0	0	1	3	0	2	4	3	3	1	4	3	3	3	rs368373841		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr2:219494309G>A	ENST00000450993.2	+	8	1381	c.1042G>A	c.(1042-1044)Gtt>Att	p.V348I	PLCD4_ENST00000432688.1_Missense_Mutation_p.V348I|PLCD4_ENST00000417849.1_Missense_Mutation_p.V348I	NM_032726.3	NP_116115.1	Q9BRC7	PLCD4_HUMAN	phospholipase C, delta 4	348	PI-PLC X-box. {ECO:0000255|PROSITE- ProRule:PRU00270}.				acrosome reaction (GO:0007340)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|phosphatidylinositol metabolic process (GO:0046488)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|urinary_tract(3)	23		Renal(207;0.0915)		Epithelial(149;5.11e-07)|all cancers(144;0.000104)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		GGAACCTGTCGTTTACCACGG	0.592																																						ENST00000450993.2																			0				breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|urinary_tract(3)	23						c.(1042-1044)Gtt>Att		phospholipase C, delta 4		G	ILE/VAL	0,4192		0,0,2096	73	79	77		1042	5.1	1	2		77	2,8416		0,2,4207	no	missense	PLCD4	NM_032726.3	29	0,2,6303	AA,AG,GG		0.0238,0.0,0.0159	benign	348/763	219494309	2,12608	2096	4209	6305	SO:0001583	missense	84812				intracellular signal transduction|lipid catabolic process	endoplasmic reticulum|membrane|nucleus	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr2:219494309G>A	AI366170	CCDS46516.1	2q35	2013-01-10			ENSG00000115556	ENSG00000115556	3.1.4.11	"EF-hand domain containing"	9062	protein-coding gene	gene with protein product		605939				10702683, 9056492	Standard	NM_032726		Approved		uc021vwx.1	Q9BRC7	OTTHUMG00000154743	ENST00000450993.2:c.1042G>A	2.37:g.219494309G>A	ENSP00000388631:p.Val348Ile					PLCD4_ENST00000432688.1_Missense_Mutation_p.V348I|PLCD4_ENST00000417849.1_Missense_Mutation_p.V348I	p.V348I	NM_032726.3	NP_116115.1	Q9BRC7	PLCD4_HUMAN		Epithelial(149;5.11e-07)|all cancers(144;0.000104)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	8	1381	+		Renal(207;0.0915)	348			PI-PLC X-box.		Q53FS8	Missense_Mutation	SNP	ENST00000450993.2	37	c.1042G>A	CCDS46516.1	.	.	.	.	.	.	.	.	.	.	G	11.41	1.629835	0.28978	0.0	2.38E-4	ENSG00000115556	ENST00000450993;ENST00000251959;ENST00000417849;ENST00000432688	T;T;T	0.57907	0.37;0.37;0.37	5.09	5.09	0.68999	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);Phospholipase C, phosphatidylinositol-specific , X domain (3);	0.000000	0.85682	D	0.000000	T	0.50820	0.1638	N	0.11284	0.12	0.49051	D	0.999744	D	0.89917	1.0	D	0.91635	0.999	T	0.39121	-0.9629	10	0.02654	T	1	.	18.2986	0.90155	0.0:0.0:1.0:0.0	.	348	Q9BRC7	PLCD4_HUMAN	I	348	ENSP00000388631:V348I;ENSP00000396942:V348I;ENSP00000396185:V348I	ENSP00000251959:V348I	V	+	1	0	PLCD4	219202553	1.000000	0.71417	0.967000	0.41034	0.993000	0.82548	4.616000	0.61197	2.657000	0.90304	0.491000	0.48974	GTT		0.592	PLCD4-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336876.1			12	35	0	0	0	1	0	12	35					A	219494309	G	A	219494309	3	1	305	1	0	0	0	0	1	0	0	0	12033	1145	40	1	1068	1	PLCD4	2	219494309	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	12068455	219494309	23705064	188	14705											
BCS1L	617	broad.mit.edu	37	chr2	219525928	219525928	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gctcacccgccacagtacccGtactcagcacctcagtgtcg	8	7	8	18	3	3	0	3	0	0	0	4	0	3	0	4	0	3	4	4	0	2	2			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr2:219525928G>A	ENST00000431802.1	+	2	917	c.218G>A	c.(217-219)cGt>cAt	p.R73H	BCS1L_ENST00000392111.2_Missense_Mutation_p.R73H|BCS1L_ENST00000392110.2_Missense_Mutation_p.R73H|BCS1L_ENST00000359273.3_Missense_Mutation_p.R73H|ZNF142_ENST00000449707.1_5'Flank|ZNF142_ENST00000411696.2_5'Flank|BCS1L_ENST00000439945.1_Missense_Mutation_p.R73H|BCS1L_ENST00000412366.1_Missense_Mutation_p.R73H|BCS1L_ENST00000392109.1_Missense_Mutation_p.R73H			Q9Y276	BCS1_HUMAN	BC1 (ubiquinol-cytochrome c reductase) synthesis-like	73			R -> C (in MC3DN1). {ECO:0000269|PubMed:17403714}.		mitochondrial respiratory chain complex I assembly (GO:0032981)|mitochondrial respiratory chain complex III assembly (GO:0034551)|mitochondrial respiratory chain complex IV assembly (GO:0033617)|mitochondrion organization (GO:0007005)	mitochondrial respiratory chain complex III (GO:0005750)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)	8		Renal(207;0.0474)		Epithelial(149;7.12e-07)|all cancers(144;0.000131)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CACAGTACCCGTACTCAGCAC	0.537																																						ENST00000431802.1																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)	8						c.(217-219)cGt>cAt		BC1 (ubiquinol-cytochrome c reductase) synthesis-like							131	132	132					2																	219525928		2203	4300	6503	SO:0001583	missense	617				mitochondrial respiratory chain complex I assembly|mitochondrial respiratory chain complex III assembly|mitochondrial respiratory chain complex IV assembly	integral to membrane|mitochondrial respiratory chain complex III	ATP binding|nucleoside-triphosphatase activity|protein binding	g.chr2:219525928G>A	AF026849	CCDS2419.1	2q35	2014-09-17	2012-10-12		ENSG00000074582	ENSG00000074582		"ATPases / AAA-type", "Mitochondrial respiratory chain complex assembly factors"	1020	protein-coding gene	gene with protein product	"GRACILE syndrome", "Bjornstad syndrome"	603647	"BCS1 (yeast homolog)-like", "BCS1-like (yeast)", "BCS1-like (S. cerevisiae)"			9878253, 17314340	Standard	NM_001079866		Approved	Hs.6719, BCS, h-BCS, BJS	uc002viq.3	Q9Y276	OTTHUMG00000133114	ENST00000431802.1:c.218G>A	2.37:g.219525928G>A	ENSP00000413908:p.Arg73His					BCS1L_ENST00000392110.2_Missense_Mutation_p.R73H|BCS1L_ENST00000359273.3_Missense_Mutation_p.R73H|BCS1L_ENST00000392109.1_Missense_Mutation_p.R73H|BCS1L_ENST00000392111.2_Missense_Mutation_p.R73H|BCS1L_ENST00000439945.1_Missense_Mutation_p.R73H|BCS1L_ENST00000412366.1_Missense_Mutation_p.R73H	p.R73H			Q9Y276	BCS1_HUMAN		Epithelial(149;7.12e-07)|all cancers(144;0.000131)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	2	917	+		Renal(207;0.0474)	73		R -> C (in MT-C3D).			B3KTW9|Q7Z2V7	Missense_Mutation	SNP	ENST00000431802.1	37	c.218G>A	CCDS2419.1	.	.	.	.	.	.	.	.	.	.	G	15.36	2.810330	0.50421	.	.	ENSG00000074582	ENST00000428880;ENST00000430322;ENST00000456050;ENST00000359273;ENST00000392109;ENST00000392110;ENST00000423377;ENST00000392111;ENST00000412366;ENST00000439945;ENST00000431802	D;D;D;D;D;D;D;D;D;D;D	0.96334	-3.98;-3.98;-3.98;-3.98;-3.98;-3.98;-3.98;-3.98;-3.98;-3.98;-3.98	5.46	5.46	0.80206	BCS1, N-terminal (1);	0.121189	0.56097	D	0.000027	D	0.90553	0.7039	N	0.17564	0.495	0.40960	D	0.984613	B	0.18610	0.029	B	0.16289	0.015	D	0.86191	0.1612	10	0.31617	T	0.26	-9.8806	9.281	0.37729	0.2003:0.0:0.7997:0.0	.	73	Q9Y276	BCS1_HUMAN	H	73	ENSP00000391007:R73H;ENSP00000398957:R73H;ENSP00000395440:R73H;ENSP00000352219:R73H;ENSP00000375957:R73H;ENSP00000375958:R73H;ENSP00000397293:R73H;ENSP00000375959:R73H;ENSP00000406494:R73H;ENSP00000404999:R73H;ENSP00000413908:R73H	ENSP00000352219:R73H	R	+	2	0	BCS1L	219234172	0.998000	0.40836	0.947000	0.38551	0.991000	0.79684	3.147000	0.50639	2.542000	0.85734	0.655000	0.94253	CGT		0.537	BCS1L-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336756.1	NM_004328		6	159	0	0	0	1	0	6	159					A	219525928	G	A	219525928	3	1	305	1	0	0	0	0	1	0	0	0	1389	1145	40	1	220	1	BCS1L	2	219525928	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	31619	219525928	23673445	189	14706											
WNT6	7475	broad.mit.edu	37	chr2	219736335	219736335	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cccgcgggcgggcccctcccCggccctccggcctgcccggc	0	3	14	24	6	0	0	0	0	0	0	2	0	2	0	9	5	1	0	9	5	0	0			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr2:219736335C>T	ENST00000233948.3	+	3	647	c.430C>T	c.(430-432)Cgg>Tgg	p.R144W	WNT6_ENST00000486233.1_3'UTR	NM_006522.3	NP_006513.1	Q9Y6F9	WNT6_HUMAN	wingless-type MMTV integration site family, member 6	144					axis specification (GO:0009798)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell fate commitment (GO:0045165)|cellular response to retinoic acid (GO:0071300)|cornea development in camera-type eye (GO:0061303)|epithelial-mesenchymal cell signaling (GO:0060684)|nephron tubule formation (GO:0072079)|neuron differentiation (GO:0030182)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of gene expression (GO:0010628)|positive regulation of tooth mineralization (GO:0070172)|positive regulation of transcription, DNA-templated (GO:0045893)|Wnt signaling pathway (GO:0016055)	cell surface (GO:0009986)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)			large_intestine(1)|ovary(2)|skin(1)	4		Renal(207;0.0474)		Epithelial(149;4.53e-07)|all cancers(144;9.3e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		ggcccctccccggccctccgg	0.796																																						ENST00000233948.3																			0				large_intestine(1)|ovary(2)|skin(1)	4						c.(430-432)Cgg>Tgg		wingless-type MMTV integration site family, member 6							3	4	4					2																	219736335		1293	2868	4161	SO:0001583	missense	7475				anterior/posterior pattern formation|axis specification|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|cornea development in camera-type eye|neuron differentiation|odontogenesis of dentine-containing tooth|positive regulation of gene expression|positive regulation of tooth mineralization|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	G-protein-coupled receptor binding|signal transducer activity	g.chr2:219736335C>T	AF079522	CCDS2425.1	2q35	2008-05-23			ENSG00000115596	ENSG00000115596		"Wingless-type MMTV integration sites"	12785	protein-coding gene	gene with protein product		604663				10343101, 11350055	Standard	NM_006522		Approved		uc002vjc.1	Q9Y6F9	OTTHUMG00000133082	ENST00000233948.3:c.430C>T	2.37:g.219736335C>T	ENSP00000233948:p.Arg144Trp					WNT6_ENST00000486233.1_3'UTR	p.R144W	NM_006522.3	NP_006513.1	Q9Y6F9	WNT6_HUMAN		Epithelial(149;4.53e-07)|all cancers(144;9.3e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	3	647	+		Renal(207;0.0474)	144					Q9H1J6|Q9H238	Missense_Mutation	SNP	ENST00000233948.3	37	c.430C>T	CCDS2425.1	.	.	.	.	.	.	.	.	.	.	c	13.51	2.258451	0.39896	.	.	ENSG00000115596	ENST00000233948	T	0.78126	-1.15	4.5	-0.222	0.13122	.	1.991910	0.03376	U	0.199667	T	0.71962	0.3402	L	0.38175	1.15	0.09310	N	1	D	0.65815	0.995	P	0.48089	0.566	T	0.61436	-0.7063	10	0.72032	D	0.01	.	3.0187	0.06069	0.2824:0.3681:0.2614:0.088	.	144	Q9Y6F9	WNT6_HUMAN	W	144	ENSP00000233948:R144W	ENSP00000233948:R144W	R	+	1	2	WNT6	219444579	0.022000	0.18835	0.018000	0.16275	0.105000	0.19272	1.659000	0.37387	0.321000	0.23259	-0.334000	0.08254	CGG		0.796	WNT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256727.2	NM_006522		4	14	0	0	0	1	0	4	14					T	219736335	C	T	219736335	3	4	305	1	0	0	0	0	1	0	0	0	17390	643	23	2	440	2	WNT6	2	219736335	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	210407	219736335	23463038	190	14707											
CCDC108	255101	broad.mit.edu	37	chr2	219868892	219868893	+	Frame_Shift_Del	DEL	CT	CT	-																															tctgtctcctcttcttcctcCtcttcctcctccaactcttc																										TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr2:219868892_219868893delCT	ENST00000341552.5	-	33	5419_5420	c.5336_5337delAG	c.(5335-5337)gagfs	p.E1784fs	CCDC108_ENST00000441968.1_Frame_Shift_Del_p.E1784fs|AC097468.4_ENST00000441450.1_RNA|CCDC108_ENST00000453220.1_Frame_Shift_Del_p.E1784fs|MIR375_ENST00000362103.2_RNA	NM_194302.2	NP_919278.2	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108	1784	Glu-rich.					integral component of membrane (GO:0016021)	poly(A) RNA binding (GO:0044822)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		cttcttcctcctcttcctcctc	0.545																																						ENST00000341552.5																			0				autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80						c.(5335-5337)gfs		coiled-coil domain containing 108																																				SO:0001589	frameshift_variant	255101					integral to membrane	structural molecule activity	g.chr2:219868892_219868893delCT	NM_194302, AL833882, AK127189	CCDS2430.2, CCDS2431.2, CCDS63125.1, CCDS63126.1	2q35	2008-02-05			ENSG00000181378	ENSG00000181378			25325	protein-coding gene	gene with protein product		614270				12477932	Standard	NM_194302		Approved	DKFZp434O0527, MGC35338	uc002vjl.2	Q6ZU64	OTTHUMG00000133013	ENST00000341552.5:c.5336_5337delAG	2.37:g.219868894_219868895delCT	ENSP00000340776:p.Glu1784fs					AC097468.4_ENST00000441450.1_RNA|CCDC108_ENST00000453220.1_Frame_Shift_Del_p.E1784fs|CCDC108_ENST00000441968.1_Frame_Shift_Del_p.E1784fs	p.E1784fs	NM_194302.2	NP_919278.2	Q6ZU64	CC108_HUMAN		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	33	5419_5420	-		Renal(207;0.0915)	1784			Glu-rich.		A2BDD8|E9PCR1|E9PG25|E9PG72|Q6ZSR8|Q8N0T4|Q8NDJ3	Frame_Shift_Del	DEL	ENST00000341552.5	37	c.5336_5337delAG	CCDS2430.2																																																																																				0.545	CCDC108-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256598.4	NM_194302		30	67						30	67	---	---	---	---	-	219868893	CT	-	219868892	7	5	305	1	0	1	0	1	0	0	0	0	2743	680	24	0	452	0	CCDC108	2	219868892	Frame_Shift_Del	DEL	CT	TCGA-KK-A59V-01A-11D-A29Q-08	132557	219868892	23330481	191	14708											
ACCN4	55515	broad.mit.edu	37	chr2	220399917	220399917	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cctgggtgggggccctgaggGcccgtgcttctgccccaccc	2	7	15	17	1	1	1	0	1	1	0	1	1	1	1	6	4	2	1	6	4	0	1			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr2:220399917G>A	ENST00000347842.3	+	5	1438	c.1424G>A	c.(1423-1425)gGc>gAc	p.G475D	ASIC4_ENST00000358078.4_Missense_Mutation_p.G494D	NM_182847.2	NP_878267.2	Q96FT7	ASIC4_HUMAN	acid-sensing (proton-gated) ion channel family member 4	475					ion transmembrane transport (GO:0034220)|sodium ion transmembrane transport (GO:0035725)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)	ion channel activity (GO:0005216)|sodium channel activity (GO:0005272)|sodium ion transmembrane transporter activity (GO:0015081)										GGCCCTGAGGGCCCGTGCTTC	0.642																																						ENST00000358078.4																			0											c.(1480-1482)gGc>gAc		acid-sensing (proton-gated) ion channel family member 4							47	47	47					2																	220399917		2203	4300	6503	SO:0001583	missense	55515					integral to plasma membrane	sodium channel activity|sodium ion transmembrane transporter activity	g.chr2:220399917G>A	AJ271643	CCDS2442.1	2q36.1	2012-02-22	2012-02-22	2012-02-22	ENSG00000072182	ENSG00000072182		"Ion channels / Acid-sensing (proton-gated) ion channels"	21263	protein-coding gene	gene with protein product		606715	"amiloride-sensitive cation channel 4, pituitary", "amiloride-sensitive cation channel family member 4, pituitary"	ACCN4		10852210	Standard	NM_182847		Approved	BNAC4	uc002vma.3	Q96FT7	OTTHUMG00000058928	ENST00000347842.3:c.1424G>A	2.37:g.220399917G>A	ENSP00000326627:p.Gly475Asp					ASIC4_ENST00000347842.3_Missense_Mutation_p.G475D	p.G494D			Q96FT7	ACCN4_HUMAN			6	1495	+			475					Q53SB7|Q6GMS1|Q6PIN9|Q9NQA4	Missense_Mutation	SNP	ENST00000347842.3	37	c.1481G>A	CCDS2442.1	.	.	.	.	.	.	.	.	.	.	G	9.880	1.201385	0.22121	.	.	ENSG00000072182	ENST00000347842;ENST00000358078	T;T	0.60424	0.19;0.19	4.67	4.67	0.58626	.	0.121040	0.64402	D	0.000014	T	0.16041	0.0386	N	0.00116	-2.08	0.46011	D	0.998813	B;B	0.15141	0.012;0.002	B;B	0.16722	0.016;0.01	T	0.24657	-1.0154	10	0.20046	T	0.44	-21.7994	5.8097	0.18460	0.2315:0.0:0.7685:0.0	.	475;494	Q96FT7;Q96FT7-4	ACCN4_HUMAN;.	D	475;494	ENSP00000326627:G475D;ENSP00000350786:G494D	ENSP00000326627:G475D	G	+	2	0	ACCN4	220108161	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.056000	0.71111	2.602000	0.87976	0.650000	0.86243	GGC		0.642	ASIC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000130263.1	NM_018674		21	51	0	0	0	1	0	21	51					A	220399917	G	A	220399917	3	1	305	1	0	0	0	0	1	0	0	0	131	1203	42	3	1503	3	ACCN4	2	220399917	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	531025	220399917	22799456	192	14709											
FARSB	10056	broad.mit.edu	37	chr2	223489482	223489482	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agctctcaccatctcctttcGgtaagctaattccttaaata	11	14	4	12	1	2	0	1	0	2	0	6	0	3	0	3	1	2	3	3	1	5	6			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr2:223489482G>A	ENST00000281828.6	-	11	1176	c.913C>T	c.(913-915)Cga>Tga	p.R305*	FARSB_ENST00000536361.1_Nonsense_Mutation_p.R206*	NM_005687.3	NP_005678.3	Q9NSD9	SYFB_HUMAN	phenylalanyl-tRNA synthetase, beta subunit	305	B5. {ECO:0000255|PROSITE- ProRule:PRU00816}.				gene expression (GO:0010467)|phenylalanyl-tRNA aminoacylation (GO:0006432)|translation (GO:0006412)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|phenylalanine-tRNA ligase activity (GO:0004826)|RNA binding (GO:0003723)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	24		Renal(207;0.0183)		Epithelial(121;3.47e-10)|all cancers(144;1.86e-07)|LUSC - Lung squamous cell carcinoma(224;0.00871)|Lung(261;0.011)	L-Phenylalanine(DB00120)	ATCTCCTTTCGGTAAGCTAAT	0.328																																						ENST00000281828.6																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	24						c.(913-915)Cga>Tga		phenylalanyl-tRNA synthetase, beta subunit	L-Phenylalanine(DB00120)						103	92	96					2																	223489482		2203	4299	6502	SO:0001587	stop_gained	10056				phenylalanyl-tRNA aminoacylation	cytosol|soluble fraction	ATP binding|magnesium ion binding|phenylalanine-tRNA ligase activity|RNA binding	g.chr2:223489482G>A	AF042346	CCDS2454.1	2q36.2	2011-07-01	2007-02-23	2007-02-23	ENSG00000116120	ENSG00000116120	6.1.1.20	"Aminoacyl tRNA synthetases / Class II"	17800	protein-coding gene	gene with protein product	"phenylalanine tRNA ligase 1, beta, cytoplasmic"	609690	"phenylalanyl-tRNA synthetase-like, beta subunit"	FARSLB		10049785	Standard	NM_005687		Approved	PheHB, FRSB	uc002vne.1	Q9NSD9	OTTHUMG00000133155	ENST00000281828.6:c.913C>T	2.37:g.223489482G>A	ENSP00000281828:p.Arg305*					FARSB_ENST00000536361.1_Nonsense_Mutation_p.R206*	p.R305*	NM_005687.3	NP_005678.3	Q9NSD9	SYFB_HUMAN		Epithelial(121;3.47e-10)|all cancers(144;1.86e-07)|LUSC - Lung squamous cell carcinoma(224;0.00871)|Lung(261;0.011)	11	1176	-		Renal(207;0.0183)	305			B5.		B4DFM0|O95708|Q4ZFX1|Q57ZJ5|Q9NZZ6	Nonsense_Mutation	SNP	ENST00000281828.6	37	c.913C>T	CCDS2454.1	.	.	.	.	.	.	.	.	.	.	G	40	8.063508	0.98635	.	.	ENSG00000116120	ENST00000281828;ENST00000536361	.	.	.	5.39	4.49	0.54785	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-6.7527	12.151	0.54050	0.0:0.0:0.6784:0.3216	.	.	.	.	X	305;206	.	ENSP00000281828:R305X	R	-	1	2	FARSB	223197726	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	2.263000	0.43293	1.214000	0.43395	0.650000	0.86243	CGA		0.328	FARSB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256855.2	NM_005687		7	11	0	0	0	1	0	7	11					A	223489482	G	A	223489482	4	1	305	1	0	0	0	0	0	1	0	0	5680	1124	39	2	884	2	FARSB	2	223489482	Nonsense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	3089565	223489482	19709891	193	14710											
SERPINE2	5270	broad.mit.edu	37	chr2	224849604	224849604	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtgcaatcagcatgctgatgCtttccccgtggtagggcagt	7	11	13	10	1	1	1	1	1	0	0	2	1	2	1	2	2	4	6	2	2	2	2			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr2:224849604C>T	ENST00000258405.4	-	5	991	c.749G>A	c.(748-750)aGc>aAc	p.S250N	SERPINE2_ENST00000409304.1_Missense_Mutation_p.S250N|SERPINE2_ENST00000447280.2_Missense_Mutation_p.S262N|SERPINE2_ENST00000409840.3_Missense_Mutation_p.S250N	NM_001136528.1|NM_006216.3	NP_001130000.1|NP_006207.1	P07093	GDN_HUMAN	serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 2	250					blood coagulation (GO:0007596)|cerebellar granular layer morphogenesis (GO:0021683)|detection of mechanical stimulus involved in sensory perception (GO:0050974)|innervation (GO:0060384)|long-term synaptic potentiation (GO:0060291)|mating plug formation (GO:0042628)|negative regulation of blood coagulation (GO:0030195)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of plasminogen activation (GO:0010757)|negative regulation of platelet activation (GO:0010544)|negative regulation of platelet aggregation (GO:0090331)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of protein processing (GO:0010955)|negative regulation of proteolysis (GO:0045861)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of sodium ion transport (GO:0010766)|positive regulation of astrocyte differentiation (GO:0048711)|regulation of cell migration (GO:0030334)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of timing of cell differentiation (GO:0048505)|secretion by cell (GO:0032940)|secretory granule organization (GO:0033363)|seminal vesicle epithelium development (GO:0061108)	cytosol (GO:0005829)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extrinsic component of external side of plasma membrane (GO:0031232)|neuromuscular junction (GO:0031594)|platelet alpha granule (GO:0031091)|vesicle (GO:0031982)	glycosaminoglycan binding (GO:0005539)|heparin binding (GO:0008201)|receptor binding (GO:0005102)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(2)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)	17		Renal(207;0.025)|all_lung(227;0.0586)|Lung NSC(271;0.0682)|all_hematologic(139;0.0797)		Epithelial(121;5.68e-10)|all cancers(144;1.9e-07)|Lung(261;0.0088)|LUSC - Lung squamous cell carcinoma(224;0.00902)		CATGCTGATGCTTTCCCCGTG	0.502																																						ENST00000409840.3																			0				breast(2)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)	17						c.(748-750)aGc>aAc		serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 2							154	140	145					2																	224849604		2203	4300	6503	SO:0001583	missense	5270				negative regulation of blood coagulation|negative regulation of plasminogen activation|negative regulation of platelet aggregation|positive regulation of astrocyte differentiation|regulation of cell migration	cytosol|extracellular matrix|extracellular space|extrinsic to external side of plasma membrane|neuromuscular junction|platelet alpha granule	heparin binding|receptor binding|serine-type endopeptidase inhibitor activity	g.chr2:224849604C>T	M17783	CCDS2460.1, CCDS46525.1, CCDS46526.1	2q36.1	2014-02-18	2005-08-18		ENSG00000135919	ENSG00000135919		"Serine (or cysteine) peptidase inhibitors"	8951	protein-coding gene	gene with protein product	"glial-derived nexin 1"	177010	"serine (or cysteine) proteinase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 2"	PI7		7665170, 24172014	Standard	NM_006216		Approved	PN1, GDN, PNI, nexin	uc002vnu.2	P07093	OTTHUMG00000133163	ENST00000258405.4:c.749G>A	2.37:g.224849604C>T	ENSP00000258405:p.Ser250Asn					SERPINE2_ENST00000447280.2_Missense_Mutation_p.S262N|SERPINE2_ENST00000409304.1_Missense_Mutation_p.S250N|SERPINE2_ENST00000258405.4_Missense_Mutation_p.S250N	p.S250N			P07093	GDN_HUMAN		Epithelial(121;5.68e-10)|all cancers(144;1.9e-07)|Lung(261;0.0088)|LUSC - Lung squamous cell carcinoma(224;0.00902)	6	1409	-		Renal(207;0.025)|all_lung(227;0.0586)|Lung NSC(271;0.0682)|all_hematologic(139;0.0797)	250					B2R6A4|B4DIF2|Q53S15|Q5D0C4	Missense_Mutation	SNP	ENST00000258405.4	37	c.749G>A	CCDS2460.1	.	.	.	.	.	.	.	.	.	.	C	20.5	4.002890	0.74932	.	.	ENSG00000135919	ENST00000409304;ENST00000258405;ENST00000409840;ENST00000447280;ENST00000432738	D;D;D;D;D	0.82984	-1.67;-1.67;-1.67;-1.67;-1.67	5.97	5.09	0.68999	Serpin domain (3);	0.172883	0.64402	D	0.000006	T	0.82144	0.4973	N	0.25286	0.73	0.44798	D	0.997801	D;D	0.60575	0.988;0.988	P;P	0.60173	0.87;0.82	T	0.82442	-0.0455	10	0.45353	T	0.12	.	11.5543	0.50739	0.1348:0.6317:0.2335:0.0	.	262;250	B4DIF2;P07093	.;GDN_HUMAN	N	250;250;250;262;250	ENSP00000386412:S250N;ENSP00000258405:S250N;ENSP00000386969:S250N;ENSP00000415786:S262N;ENSP00000408452:S250N	ENSP00000258405:S250N	S	-	2	0	SERPINE2	224557848	1.000000	0.71417	0.994000	0.49952	0.947000	0.59692	1.799000	0.38824	1.515000	0.48885	0.655000	0.94253	AGC		0.502	SERPINE2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256865.2	NM_006216		15	47	0	0	0	1	0	15	47					T	224849604	C	T	224849604	3	4	305	1	0	0	0	0	1	0	0	0	14112	797	28	3	467	3	SERPINE2	2	224849604	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	1360122	224849604	18349769	194	14711											
ITM2C	81618	broad.mit.edu	37	chr2	231742222	231742222	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttcatctaccacctgtgcaaCgggaaagacacctaccggct	11	8	8	14	2	2	1	1	0	1	1	2	2	2	2	4	2	4	2	4	2	4	3	rs545228622		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr2:231742222C>T	ENST00000326427.6	+	5	795	c.669C>T	c.(667-669)aaC>aaT	p.N223N	ITM2C_ENST00000326407.6_Silent_p.N186N|ITM2C_ENST00000409704.2_Silent_p.N161N|ITM2C_ENST00000335005.6_Silent_p.N176N	NM_030926.4	NP_112188.1	Q9NQX7	ITM2C_HUMAN	integral membrane protein 2C	223	BRICHOS. {ECO:0000255|PROSITE- ProRule:PRU00255}.				negative regulation of neuron projection development (GO:0010977)|neuron differentiation (GO:0030182)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|beta-amyloid binding (GO:0001540)			cervix(2)|lung(1)|ovary(1)|skin(1)	5		Renal(207;0.0112)|all_lung(227;0.0741)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167)|Lung NSC(271;0.204)		Epithelial(121;8.47e-12)|all cancers(144;3.44e-09)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0142)		ACCTGTGCAACGGGAAAGACA	0.627													C|||	1	0.000199681	0	0	5008	,	,		18493	0		0	False		,,,				2504	0.001					ENST00000326427.6																			0				cervix(2)|lung(1)|ovary(1)|skin(1)	5						c.(667-669)aaC>aaT		integral membrane protein 2C							104	100	101					2																	231742222		2203	4300	6503	SO:0001819	synonymous_variant	81618				negative regulation of neuron projection development|neuron differentiation	Golgi apparatus|integral to membrane|lysosomal membrane|perinuclear region of cytoplasm	beta-amyloid binding	g.chr2:231742222C>T	AF038953	CCDS2479.1, CCDS33395.1, CCDS33396.1, CCDS74665.1	2q37	2012-10-10			ENSG00000135916	ENSG00000135916		"BRICHOS domain containing"	6175	protein-coding gene	gene with protein product	"BRICHOS domain containing 2C"	609554				9653160	Standard	NM_030926		Approved	BRI3, E25, hRPC.1050_D_4, ITM3, BRICD2C	uc002vqz.3	Q9NQX7	OTTHUMG00000133219	ENST00000326427.6:c.669C>T	2.37:g.231742222C>T						ITM2C_ENST00000335005.6_Silent_p.N176N|ITM2C_ENST00000409704.2_Silent_p.N161N|ITM2C_ENST00000326407.6_Silent_p.N186N	p.N223N	NM_030926.4	NP_112188.1	Q9NQX7	ITM2C_HUMAN		Epithelial(121;8.47e-12)|all cancers(144;3.44e-09)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0142)	5	795	+		Renal(207;0.0112)|all_lung(227;0.0741)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167)|Lung NSC(271;0.204)	223			BRICHOS.		B3KPG4|Q4G0A8|Q53H84|Q6IAE7|Q86VK5|Q8N288|Q8TAW0|Q9BUP8	Silent	SNP	ENST00000326427.6	37	c.669C>T	CCDS2479.1																																																																																				0.627	ITM2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256954.2	NM_030926		30	85	0	0	0	1	0	30	85					T	231742222	C	T	231742222	2	4	305	1	0	0	0	0	0	0	0	1	7914	535	19	1		1	ITM2C	2	231742222	Silent	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	6892618	231742222	11457151	195	14712											
PSMD1	5707	broad.mit.edu	37	chr2	231927025	231927025	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gggcagaaatttccgagtccGtagacaaaatgtaagaaatt	16	9	10	6	2	0	3	0	0	0	3	2	4	2	3	2	1	0	3	2	1	6	4			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr2:231927025G>A	ENST00000308696.6	+	3	286	c.124G>A	c.(124-126)Gta>Ata	p.V42I	PSMD1_ENST00000409643.1_Missense_Mutation_p.V42I|PSMD1_ENST00000373635.4_Missense_Mutation_p.V42I	NM_002807.3	NP_002798.2	Q99460	PSMD1_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 1	42					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of protein catabolic process (GO:0042176)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)|proteasome regulatory particle (GO:0005838)	enzyme regulator activity (GO:0030234)	p.V42fs*1(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)	31		Ovarian(221;0.000626)|Medulloblastoma(418;0.0109)|Renal(207;0.0112)|Lung NSC(271;0.0538)|all_lung(227;0.0713)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;4e-26)|LUSC - Lung squamous cell carcinoma(224;0.0138)|Lung(119;0.0168)	Bortezomib(DB00188)	TTCCGAGTCCGTAGACAAAAT	0.303																																						ENST00000308696.6																			1	Deletion - Frameshift(1)	p.V42fs*1(1)	breast(1)	breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)	31						c.(124-126)Gta>Ata		proteasome (prosome, macropain) 26S subunit, non-ATPase, 1	Bortezomib(DB00188)						42	44	43					2																	231927025		2202	4296	6498	SO:0001583	missense	5707				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of protein catabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome regulatory particle	enzyme regulator activity|protein binding	g.chr2:231927025G>A	D44466	CCDS2482.1, CCDS54436.1	2q37.1	2008-05-22			ENSG00000173692	ENSG00000173692		"Proteasome (prosome, macropain) subunits"	9554	protein-coding gene	gene with protein product						8816993	Standard	NM_002807		Approved	S1, P112, Rpn2	uc002vrn.2	Q99460	OTTHUMG00000133223	ENST00000308696.6:c.124G>A	2.37:g.231927025G>A	ENSP00000309474:p.Val42Ile					PSMD1_ENST00000409643.1_Missense_Mutation_p.V42I|PSMD1_ENST00000373635.4_Missense_Mutation_p.V42I	p.V42I	NM_002807.3	NP_002798.2	Q99460	PSMD1_HUMAN		Epithelial(121;4e-26)|LUSC - Lung squamous cell carcinoma(224;0.0138)|Lung(119;0.0168)	3	286	+		Ovarian(221;0.000626)|Medulloblastoma(418;0.0109)|Renal(207;0.0112)|Lung NSC(271;0.0538)|all_lung(227;0.0713)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167)	42					B8ZZH9|Q24JU0|Q53TI2|Q6GMU5|Q6P2P4|Q6PJM7|Q6PKG9|Q86VU1|Q8IV79	Missense_Mutation	SNP	ENST00000308696.6	37	c.124G>A	CCDS2482.1	.	.	.	.	.	.	.	.	.	.	G	11.58	1.680052	0.29783	.	.	ENSG00000173692	ENST00000308696;ENST00000373635;ENST00000440838;ENST00000409643	T;T;T	0.32515	1.45;1.45;1.45	5.96	5.96	0.96718	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.16557	0.0398	N	0.05177	-0.1	0.80722	D	1	B;B	0.15141	0.004;0.012	B;B	0.09377	0.002;0.004	T	0.14924	-1.0455	10	0.02654	T	1	-0.065	20.422	0.99049	0.0:0.0:1.0:0.0	.	42;42	Q99460;Q99460-2	PSMD1_HUMAN;.	I	42	ENSP00000309474:V42I;ENSP00000362738:V42I;ENSP00000386932:V42I	ENSP00000309474:V42I	V	+	1	0	PSMD1	231635269	1.000000	0.71417	1.000000	0.80357	0.922000	0.55478	9.750000	0.98875	2.832000	0.97577	0.655000	0.94253	GTA		0.303	PSMD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256958.2			9	16	0	0	0	1	0	9	16					A	231927025	G	A	231927025	3	1	305	1	0	0	0	0	1	0	0	0	12692	1145	40	1	134	1	PSMD1	2	231927025	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	184803	231927025	11272348	196	14713											
NMUR1	10316	broad.mit.edu	37	chr2	232389804	232389804	+	Frame_Shift_Del	DEL	G	G	-																															tgggccatcgttcccagccaGggggtggacccagctgccca																										TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr2:232389804delG	ENST00000305141.4	-	3	1364	c.1231delC	c.(1231-1233)ctgfs	p.L411fs		NM_006056.4	NP_006047.3	Q9HB89	NMUR1_HUMAN	neuromedin U receptor 1	411					activation of phospholipase C activity (GO:0007202)|calcium ion transport (GO:0006816)|calcium-mediated signaling (GO:0019722)|chloride transport (GO:0006821)|G-protein coupled receptor signaling pathway (GO:0007186)|inositol phosphate-mediated signaling (GO:0048016)|neuropeptide signaling pathway (GO:0007218)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|smooth muscle contraction (GO:0006939)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|neuromedin U receptor activity (GO:0001607)|neuropeptide receptor activity (GO:0008188)			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(12)|pancreas(1)|skin(1)	24		Renal(207;0.025)|all_hematologic(139;0.094)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;8.37e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0142)		TTCCCAGCCAGGGGGTGGACC	0.652																																						ENST00000305141.4																			0				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(12)|pancreas(1)|skin(1)	24						c.(1231-1233)tgfs		neuromedin U receptor 1							45	42	43					2																	232389804		2203	4300	6503	SO:0001589	frameshift_variant	10316				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|calcium ion transport|calcium-mediated signaling|chloride transport|smooth muscle contraction	integral to plasma membrane|membrane fraction	neuromedin U receptor activity	g.chr2:232389804delG	AF044600	CCDS2486.1	2q37.1	2012-08-08	2004-05-27	2004-05-28	ENSG00000171596	ENSG00000171596		"GPCR / Class A : Neuromedin U receptors"	4518	protein-coding gene	gene with protein product		604153	"G protein-coupled receptor 66"	GPR66		9782091	Standard	NM_006056		Approved	GPC-R, FM-3, NMU1R	uc002vry.4	Q9HB89	OTTHUMG00000133225	ENST00000305141.4:c.1231delC	2.37:g.232389804delG	ENSP00000305877:p.Leu411fs						p.L411fs	NM_006056.4	NP_006047.3	Q9HB89	NMUR1_HUMAN		Epithelial(121;8.37e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0142)	3	1364	-		Renal(207;0.025)|all_hematologic(139;0.094)|Acute lymphoblastic leukemia(138;0.164)	411					O43664|Q7LDP6|Q8NE20	Frame_Shift_Del	DEL	ENST00000305141.4	37	c.1231delC	CCDS2486.1																																																																																				0.652	NMUR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256961.1	NM_006056		8	84						8	84	---	---	---	---	-	232389804	G	-	232389804	7	5	305	1	0	1	0	1	0	0	0	0	10506	991	35	0	53	0	NMUR1	2	232389804	Frame_Shift_Del	DEL	G	TCGA-KK-A59V-01A-11D-A29Q-08	462779	232389804	10809569	197	14714											
GIGYF2	26058	broad.mit.edu	37	chr2	233621023	233621023	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tggtgggggctcctagaggtCgaagttcttcaagagggcga	8	9	17	7	2	2	2	1	0	1	2	4	4	3	2	1	5	0	2	1	5	3	3			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr2:233621023C>T	ENST00000409547.1	+	8	669	c.358C>T	c.(358-360)Cga>Tga	p.R120*	GIGYF2_ENST00000373563.4_Nonsense_Mutation_p.R120*|GIGYF2_ENST00000373566.3_Nonsense_Mutation_p.R120*|GIGYF2_ENST00000409196.3_Nonsense_Mutation_p.R120*|GIGYF2_ENST00000409480.1_Nonsense_Mutation_p.R120*|GIGYF2_ENST00000409451.3_Nonsense_Mutation_p.R120*	NM_015575.3	NP_056390.2	Q6Y7W6	PERQ2_HUMAN	GRB10 interacting GYF protein 2	120	Arg-rich.				adult locomotory behavior (GO:0008344)|cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|feeding behavior (GO:0007631)|homeostasis of number of cells within a tissue (GO:0048873)|insulin-like growth factor receptor signaling pathway (GO:0048009)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|musculoskeletal movement (GO:0050881)|negative regulation of translation (GO:0017148)|neuromuscular process controlling balance (GO:0050885)|post-embryonic development (GO:0009791)|spinal cord motor neuron differentiation (GO:0021522)	membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)	p.R120R(2)		NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(17)|lung(11)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	63		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145)		TCCTAGAGGTCGAAGTTCTTC	0.443																																						ENST00000373566.3																			2	Substitution - coding silent(2)	p.R120R(2)	lung(2)	NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(17)|lung(11)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	63						c.(358-360)Cga>Tga		GRB10 interacting GYF protein 2							60	64	63					2																	233621023		2203	4300	6503	SO:0001587	stop_gained	26058				cell death		protein binding	g.chr2:233621023C>T	U80751	CCDS33401.1, CCDS46542.1, CCDS46543.1	2q37.1	2011-07-06	2008-02-11	2008-02-11	ENSG00000204120	ENSG00000204120		"Trinucleotide (CAG) repeat containing"	11960	protein-coding gene	gene with protein product	"GYF domain containing 2"	612003	"PERQ amino acid rich, with GYF domain 2", "PERQ amino acid rich, with GYF domain 3", "trinucleotide repeat containing 15", "Parkinson disease (autosomal recessive, early onset) 11"	PERQ2, PERQ3, TNRC15, PARK11		9225980, 9734811, 12771153, 18358451, 19279319	Standard	NM_015575		Approved	KIAA0642, GYF2	uc002vtk.4	Q6Y7W6	OTTHUMG00000153237	ENST00000409547.1:c.358C>T	2.37:g.233621023C>T	ENSP00000386537:p.Arg120*					GIGYF2_ENST00000409480.1_Nonsense_Mutation_p.R120*|GIGYF2_ENST00000373563.4_Nonsense_Mutation_p.R120*|GIGYF2_ENST00000409547.1_Nonsense_Mutation_p.R120*|GIGYF2_ENST00000409196.3_Nonsense_Mutation_p.R120*|GIGYF2_ENST00000409451.3_Nonsense_Mutation_p.R120*	p.R120*			Q6Y7W6	PERQ2_HUMAN		Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145)	6	555	+		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)	120			Arg-rich.		A6H8W4|B9EG55|E9PBB0|O75137|Q7Z2Z8|Q7Z3I2|Q96HU4|Q9NV82	Nonsense_Mutation	SNP	ENST00000409547.1	37	c.358C>T	CCDS33401.1	.	.	.	.	.	.	.	.	.	.	C	35	5.490341	0.96339	.	.	ENSG00000204120	ENST00000373566;ENST00000414511;ENST00000373563;ENST00000409480;ENST00000409547;ENST00000535418;ENST00000423659;ENST00000409196;ENST00000409451;ENST00000440945	.	.	.	5.63	5.63	0.86233	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.16420	T	0.52	-10.5852	19.6755	0.95930	0.0:1.0:0.0:0.0	.	.	.	.	X	120	.	ENSP00000362664:R120X	R	+	1	2	GIGYF2	233329267	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.757000	0.85209	2.652000	0.90054	0.563000	0.77884	CGA		0.443	GIGYF2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000330316.2	NM_001103146		9	32	0	0	0	1	0	9	32					T	233621023	C	T	233621023	4	4	305	1	0	0	0	0	0	1	0	0	6378	876	31	2	372	2	GIGYF2	2	233621023	Nonsense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	1231219	233621023	9578350	198	14715											
INPP5D	3635	broad.mit.edu	37	chr2	233990478	233990478	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aaagtgtcgtgtctccacccGagctgcccccaagaaacatc	11	7	8	15	2	1	1	0	0	1	1	4	2	1	1	4	0	3	1	4	0	3	0			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr2:233990478G>A	ENST00000359570.5	+	4	373	c.373G>A	c.(373-375)Gag>Aag	p.E125K	INPP5D_ENST00000474278.1_3'UTR|INPP5D_ENST00000538935.1_Missense_Mutation_p.E125K			Q92835	SHIP1_HUMAN	inositol polyphosphate-5-phosphatase, 145kDa	125					apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|determination of adult lifespan (GO:0008340)|immunoglobulin mediated immune response (GO:0016064)|inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|leukocyte migration (GO:0050900)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of bone resorption (GO:0045779)|negative regulation of immune response (GO:0050777)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|negative regulation of monocyte differentiation (GO:0045656)|negative regulation of neutrophil differentiation (GO:0045659)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of signal transduction (GO:0009968)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|positive regulation of apoptotic process (GO:0043065)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of erythrocyte differentiation (GO:0045648)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)	cytosol (GO:0005829)|membrane (GO:0016020)	inositol-polyphosphate 5-phosphatase activity (GO:0004445)|phosphatidylinositol trisphosphate phosphatase activity (GO:0034594)			central_nervous_system(1)|ovary(1)	2		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843)		Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185)		GTCTCCACCCGAGCTGCCCCC	0.612																																					NSCLC(82;1215 1426 16163 20348 41018)	ENST00000359570.5																			0				central_nervous_system(1)|ovary(1)	2						c.(373-375)Gag>Aag		inositol polyphosphate-5-phosphatase, 145kDa							33	37	36					2																	233990478		2183	4283	6466	SO:0001583	missense	3635				apoptosis|blood coagulation|leukocyte migration|T cell receptor signaling pathway	cytosol	inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|SH3 domain binding	g.chr2:233990478G>A	U57650	CCDS74672.1	2q37.1	2013-02-14	2002-08-29		ENSG00000168918	ENSG00000168918		"SH2 domain containing"	6079	protein-coding gene	gene with protein product		601582	"inositol polyphosphate-5-phosphatase, 145kD"			8643691, 8874179	Standard	NM_001017915		Approved	SHIP, hp51CN	uc010zmp.2	Q92835	OTTHUMG00000133688	ENST00000359570.5:c.373G>A	2.37:g.233990478G>A	ENSP00000352575:p.Glu125Lys					INPP5D_ENST00000538935.1_Missense_Mutation_p.E125K|INPP5D_ENST00000474278.1_3'UTR	p.E125K			Q92835	SHIP1_HUMAN		Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185)	4	373	+		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843)	125					O00145|Q13544|Q13545|Q6P5A4|Q92656|Q9UE80	Missense_Mutation	SNP	ENST00000359570.5	37	c.373G>A		.	.	.	.	.	.	.	.	.	.	G	5.956	0.360316	0.11296	.	.	ENSG00000168918	ENST00000422935;ENST00000451407;ENST00000359570;ENST00000538935	D;D;D;D	0.96232	-2.96;-2.92;-3.95;-3.91	5.23	5.23	0.72850	.	0.281738	0.39210	N	0.001434	D	0.90215	0.6941	.	.	.	0.31136	N	0.707204	P;P	0.44139	0.827;0.734	B;B	0.33750	0.169;0.081	D	0.88199	0.2882	9	0.21014	T	0.42	.	9.9742	0.41772	0.0929:0.0:0.9071:0.0	.	124;125	Q92835-2;Q92835	.;SHIP1_HUMAN	K	124;125;125;125	ENSP00000409018:E124K;ENSP00000415253:E125K;ENSP00000352575:E125K;ENSP00000441010:E125K	ENSP00000352575:E125K	E	+	1	0	INPP5D	233698722	0.859000	0.29813	0.954000	0.39281	0.071000	0.16799	1.132000	0.31418	2.438000	0.82558	0.650000	0.86243	GAG		0.612	INPP5D-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001017915		5	23	0	0	0	1	0	5	23					A	233990478	G	A	233990478	3	1	305	1	0	0	0	0	1	0	0	0	7756	1059	37	2	387	2	INPP5D	2	233990478	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	369455	233990478	9208895	199	14716											
GPC1	2817	broad.mit.edu	37	chr2	241401916	241401916	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccccgagagagctgcgcctgCgggccacccgtgccttcgtg	4	6	14	17	5	0	1	0	0	0	1	1	3	0	1	6	1	4	1	6	1	0	1			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr2:241401916C>T	ENST00000264039.2	+	3	882	c.634C>T	c.(634-636)Cgg>Tgg	p.R212W		NM_002081.2	NP_002072.2	P35052	GPC1_HUMAN	glypican 1	212					axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan catabolic process (GO:0030200)|myelin assembly (GO:0032288)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|phototransduction, visible light (GO:0007603)|positive regulation of skeletal muscle cell differentiation (GO:2001016)|retinoid metabolic process (GO:0001523)|Schwann cell differentiation (GO:0014037)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	copper ion binding (GO:0005507)|fibroblast growth factor binding (GO:0017134)|laminin binding (GO:0043236)			breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(4)|prostate(1)	9		all_epithelial(40;2.79e-15)|Breast(86;2.41e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0335)|Lung NSC(271;0.106)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;4.51e-33)|all cancers(36;1.74e-30)|OV - Ovarian serous cystadenocarcinoma(60;4.73e-15)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;9.1e-06)|Colorectal(34;0.000487)|Lung(119;0.0013)|LUSC - Lung squamous cell carcinoma(224;0.0154)|COAD - Colon adenocarcinoma(134;0.0194)|READ - Rectum adenocarcinoma(96;0.0949)		GCTGCGCCTGCGGGCCACCCG	0.711																																						ENST00000264039.2																			0				breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(4)|prostate(1)	9						c.(634-636)Cgg>Tgg		glypican 1							10	12	11					2																	241401916		2165	4256	6421	SO:0001583	missense	2817				axon guidance	anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding	g.chr2:241401916C>T	AK095397	CCDS2534.1	2q35-q37	2008-02-05			ENSG00000063660	ENSG00000063660		"Proteoglycans / Cell Surface : Glypicans"	4449	protein-coding gene	gene with protein product	"glypican proteoglycan 1"	600395				7774946	Standard	NM_002081		Approved	glypican	uc002vyw.4	P35052	OTTHUMG00000133349	ENST00000264039.2:c.634C>T	2.37:g.241401916C>T	ENSP00000264039:p.Arg212Trp						p.R212W	NM_002081.2	NP_002072.2	P35052	GPC1_HUMAN		Epithelial(32;4.51e-33)|all cancers(36;1.74e-30)|OV - Ovarian serous cystadenocarcinoma(60;4.73e-15)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;9.1e-06)|Colorectal(34;0.000487)|Lung(119;0.0013)|LUSC - Lung squamous cell carcinoma(224;0.0154)|COAD - Colon adenocarcinoma(134;0.0194)|READ - Rectum adenocarcinoma(96;0.0949)	3	882	+		all_epithelial(40;2.79e-15)|Breast(86;2.41e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0335)|Lung NSC(271;0.106)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)	212					B3KTD1|Q53QM4	Missense_Mutation	SNP	ENST00000264039.2	37	c.634C>T	CCDS2534.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.86|16.86	3.239686|3.239686	0.58995|0.58995	.|.	.|.	ENSG00000063660|ENSG00000063660	ENST00000420138|ENST00000264039	.|T	.|0.53640	.|0.61	3.11|3.11	2.19|2.19	0.27852|0.27852	.|.	.|0.538029	.|0.17656	.|N	.|0.166494	T|T	0.62270|0.62270	0.2414|0.2414	M|M	0.70595|0.70595	2.14|2.14	0.32039|0.32039	N|N	0.598427|0.598427	.|D	.|0.89917	.|1.0	.|D	.|0.74348	.|0.983	T|T	0.66575|0.66575	-0.5889|-0.5889	5|10	.|0.87932	.|D	.|0	-9.2824|-9.2824	7.7881|7.7881	0.29103|0.29103	0.451:0.549:0.0:0.0|0.451:0.549:0.0:0.0	.|.	.|212	.|P35052	.|GPC1_HUMAN	V|W	251|212	.|ENSP00000264039:R212W	.|ENSP00000264039:R212W	A|R	+|+	2|1	0|2	GPC1|GPC1	241050589|241050589	0.177000|0.177000	0.23109|0.23109	0.998000|0.998000	0.56505|0.56505	0.951000|0.951000	0.60555|0.60555	0.216000|0.216000	0.17585|0.17585	0.615000|0.615000	0.30124|0.30124	0.591000|0.591000	0.81541|0.81541	GCG|CGG		0.711	GPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257179.3	NM_002081		12	26	0	0	0	1	0	12	26					T	241401916	C	T	241401916	3	4	305	1	0	0	0	0	1	0	0	0	6597	759	27	1	644	1	GPC1	2	241401916	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	7411438	241401916	1797457	200	14717											
GPC1	2817	broad.mit.edu	37	chr2	241402907	241402907	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccaaccaggccgacctggaCgccgagtggaggaacctcct	9	4	13	15	3	0	0	0	0	0	0	1	5	1	3	7	4	2	0	7	4	2	0	rs555091554		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr2:241402907C>T	ENST00000264039.2	+	4	1109	c.861C>T	c.(859-861)gaC>gaT	p.D287D		NM_002081.2	NP_002072.2	P35052	GPC1_HUMAN	glypican 1	287					axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan catabolic process (GO:0030200)|myelin assembly (GO:0032288)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|phototransduction, visible light (GO:0007603)|positive regulation of skeletal muscle cell differentiation (GO:2001016)|retinoid metabolic process (GO:0001523)|Schwann cell differentiation (GO:0014037)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	copper ion binding (GO:0005507)|fibroblast growth factor binding (GO:0017134)|laminin binding (GO:0043236)			breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(4)|prostate(1)	9		all_epithelial(40;2.79e-15)|Breast(86;2.41e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0335)|Lung NSC(271;0.106)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;4.51e-33)|all cancers(36;1.74e-30)|OV - Ovarian serous cystadenocarcinoma(60;4.73e-15)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;9.1e-06)|Colorectal(34;0.000487)|Lung(119;0.0013)|LUSC - Lung squamous cell carcinoma(224;0.0154)|COAD - Colon adenocarcinoma(134;0.0194)|READ - Rectum adenocarcinoma(96;0.0949)		CCGACCTGGACGCCGAGTGGA	0.682																																						ENST00000264039.2																			0				breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(4)|prostate(1)	9						c.(859-861)gaC>gaT		glypican 1							56	57	57					2																	241402907		2202	4300	6502	SO:0001819	synonymous_variant	2817				axon guidance	anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding	g.chr2:241402907C>T	AK095397	CCDS2534.1	2q35-q37	2008-02-05			ENSG00000063660	ENSG00000063660		"Proteoglycans / Cell Surface : Glypicans"	4449	protein-coding gene	gene with protein product	"glypican proteoglycan 1"	600395				7774946	Standard	NM_002081		Approved	glypican	uc002vyw.4	P35052	OTTHUMG00000133349	ENST00000264039.2:c.861C>T	2.37:g.241402907C>T							p.D287D	NM_002081.2	NP_002072.2	P35052	GPC1_HUMAN		Epithelial(32;4.51e-33)|all cancers(36;1.74e-30)|OV - Ovarian serous cystadenocarcinoma(60;4.73e-15)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;9.1e-06)|Colorectal(34;0.000487)|Lung(119;0.0013)|LUSC - Lung squamous cell carcinoma(224;0.0154)|COAD - Colon adenocarcinoma(134;0.0194)|READ - Rectum adenocarcinoma(96;0.0949)	4	1109	+		all_epithelial(40;2.79e-15)|Breast(86;2.41e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0335)|Lung NSC(271;0.106)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)	287					B3KTD1|Q53QM4	Silent	SNP	ENST00000264039.2	37	c.861C>T	CCDS2534.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	9.297|9.297	1.052176|1.052176	0.19827|0.19827	.|.	.|.	ENSG00000063660|ENSG00000063660	ENST00000420138;ENST00000455111|ENST00000425056	.|.	.|.	.|.	3.87|3.87	-1.31|-1.31	0.09230|0.09230	.|.	.|.	.|.	.|.	.|.	T|T	0.54919|0.54919	0.1888|0.1888	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.48456|0.48456	-0.9034|-0.9034	4|4	.|.	.|.	.|.	-33.4304|-33.4304	9.5148|9.5148	0.39098|0.39098	0.0:0.6259:0.0:0.3741|0.0:0.6259:0.0:0.3741	.|.	.|.	.|.	.|.	C|M	327;32|283	.|.	.|.	R|T	+|+	1|2	0|0	GPC1|GPC1	241051580|241051580	0.010000|0.010000	0.17322|0.17322	0.989000|0.989000	0.46669|0.46669	0.812000|0.812000	0.45895|0.45895	0.187000|0.187000	0.16998|0.16998	-0.426000|-0.426000	0.07360|0.07360	-1.303000|-1.303000	0.01326|0.01326	CGC|ACG		0.682	GPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257179.3	NM_002081		22	55	0	0	0	1	0	22	55					T	241402907	C	T	241402907	2	4	305	1	0	0	0	0	0	0	0	1	6597	535	19	1		1	GPC1	2	241402907	Silent	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	991	241402907	1796466	201	14718											
GPR35	2859	broad.mit.edu	37	chr2	241569781	241569781	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcaggctgcggccgtgtgcGcggtcctctgggtgctggtc	1	9	19	12	4	1	0	0	0	1	0	3	0	2	0	2	6	3	3	2	6	0	0	rs376265458		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr2:241569781G>A	ENST00000319838.5	+	6	1354	c.412G>A	c.(412-414)Gcg>Acg	p.A138T	GPR35_ENST00000407714.1_Missense_Mutation_p.A138T|GPR35_ENST00000403859.1_Missense_Mutation_p.A138T|GPR35_ENST00000430267.1_Missense_Mutation_p.A138T|GPR35_ENST00000438013.2_Missense_Mutation_p.A169T	NM_001195381.1	NP_001182310.1	Q9HC97	GPR35_HUMAN	G protein-coupled receptor 35	138					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)	p.A138T(1)		NS(2)|breast(1)|cervix(1)|endometrium(1)|lung(7)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	17		all_epithelial(40;7.49e-12)|Breast(86;0.000148)|Renal(207;0.00571)|Ovarian(221;0.104)|all_neural(83;0.107)|all_hematologic(139;0.182)|all_lung(227;0.186)|Melanoma(123;0.238)		Epithelial(32;5.29e-32)|all cancers(36;1.38e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.13e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.02e-06)|Lung(119;0.00163)|Colorectal(34;0.00463)|LUSC - Lung squamous cell carcinoma(224;0.008)|COAD - Colon adenocarcinoma(134;0.031)		GGCCGTGTGCGCGGTCCTCTG	0.706																																						ENST00000319838.5																			1	Substitution - Missense(1)	p.A138T(1)	lung(1)	NS(2)|breast(1)|cervix(1)|endometrium(1)|lung(7)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	17						c.(412-414)Gcg>Acg		G protein-coupled receptor 35		G	THR/ALA,THR/ALA,THR/ALA	0,4318		0,0,2159	16	18	17		505,505,412	-2.9	0	2		17	1,8425		0,1,4212	no	missense,missense,missense	GPR35	NM_001195381.1,NM_001195382.1,NM_005301.3	58,58,58	0,1,6371	AA,AG,GG		0.0119,0.0,0.0078	benign,benign,benign	169/341,169/341,138/310	241569781	1,12743	2159	4213	6372	SO:0001583	missense	2859					integral to plasma membrane	G-protein coupled receptor activity	g.chr2:241569781G>A		CCDS2541.1, CCDS56174.1	2q37.3	2012-08-21			ENSG00000178623	ENSG00000178623		"GPCR / Class A : Orphans"	4492	protein-coding gene	gene with protein product		602646				9479505	Standard	NM_005301		Approved		uc021vze.1	Q9HC97	OTTHUMG00000133356	ENST00000319838.5:c.412G>A	2.37:g.241569781G>A	ENSP00000322731:p.Ala138Thr					GPR35_ENST00000407714.1_Missense_Mutation_p.A138T|GPR35_ENST00000438013.2_Missense_Mutation_p.A169T|GPR35_ENST00000430267.1_Missense_Mutation_p.A138T|GPR35_ENST00000403859.1_Missense_Mutation_p.A138T	p.A138T	NM_001195381.1	NP_001182310.1	Q9HC97	GPR35_HUMAN		Epithelial(32;5.29e-32)|all cancers(36;1.38e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.13e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.02e-06)|Lung(119;0.00163)|Colorectal(34;0.00463)|LUSC - Lung squamous cell carcinoma(224;0.008)|COAD - Colon adenocarcinoma(134;0.031)	6	1354	+		all_epithelial(40;7.49e-12)|Breast(86;0.000148)|Renal(207;0.00571)|Ovarian(221;0.104)|all_neural(83;0.107)|all_hematologic(139;0.182)|all_lung(227;0.186)|Melanoma(123;0.238)	138					J3KR30|O43495|Q17R58|Q4VBN5|Q4ZFV2|Q6FHI8|Q86UH4	Missense_Mutation	SNP	ENST00000319838.5	37	c.412G>A	CCDS2541.1	.	.	.	.	.	.	.	.	.	.	G	8.237	0.805878	0.16467	0.0	1.19E-4	ENSG00000178623	ENST00000319838;ENST00000403859;ENST00000438013;ENST00000407714;ENST00000430267	T;T;T;T;T	0.39997	1.05;1.05;1.05;1.05;1.05	4.01	-2.87	0.05700	GPCR, rhodopsin-like superfamily (1);	5.692270	0.02888	N	0.133775	T	0.26231	0.0640	L	0.37750	1.13	0.09310	N	1	P;P;B	0.41848	0.723;0.763;0.383	B;B;B	0.34824	0.122;0.19;0.125	T	0.12553	-1.0543	10	0.34782	T	0.22	-2.895	1.9157	0.03297	0.2545:0.3782:0.2378:0.1294	.	223;169;138	Q6ZMP9;A8K2J1;Q9HC97	.;.;GPR35_HUMAN	T	138;138;169;138;138	ENSP00000322731:A138T;ENSP00000385140:A138T;ENSP00000415890:A169T;ENSP00000384263:A138T;ENSP00000411788:A138T	ENSP00000322731:A138T	A	+	1	0	GPR35	241218454	0.000000	0.05858	0.000000	0.03702	0.019000	0.09904	-0.225000	0.09151	-0.791000	0.04486	-0.384000	0.06662	GCG		0.706	GPR35-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000325631.1	NM_001195382		4	57	0	0	0	1	0	4	57					A	241569781	G	A	241569781	3	1	305	1	0	0	0	0	1	0	0	0	6690	1087	38	1	414	1	GPR35	2	241569781	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	166874	241569781	1629592	202	14719											
KIF1A	547	broad.mit.edu	37	chr2	241737144	241737144	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaaggggcggacccgcaccGccaccttcaccgaagccccg	8	3	12	18	5	1	1	1	1	0	0	1	3	1	2	7	3	1	1	7	3	2	1			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr2:241737144G>A	ENST00000320389.7	-	2	184	c.26C>T	c.(25-27)gCg>gTg	p.A9V	KIF1A_ENST00000498729.2_Missense_Mutation_p.A9V	NM_004321.6	NP_004312.2	Q12756	KIF1A_HUMAN	kinesin family member 1A	9	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				anterograde axon cargo transport (GO:0008089)|ATP catabolic process (GO:0006200)|cell death (GO:0008219)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|motor activity (GO:0003774)|plus-end-directed microtubule motor activity (GO:0008574)			NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)		GACCCGCACCGCCACCTTCAC	0.597																																						ENST00000498729.2																			0				NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66						c.(25-27)gCg>gTg		kinesin family member 1A							29	34	32					2																	241737144		1984	4143	6127	SO:0001583	missense	547				anterograde axon cargo transport	cytoplasm|microtubule|nucleus	ATP binding|microtubule motor activity	g.chr2:241737144G>A	AF004425	CCDS46561.1, CCDS58757.1	2q37.2	2014-09-17	2004-01-09	2004-01-14	ENSG00000130294	ENSG00000130294		"Kinesins", "Pleckstrin homology (PH) domain containing"	888	protein-coding gene	gene with protein product		601255	"axonal transport of synaptic vesicles", "chromosome 2 open reading frame 20", "spastic paraplegia 30 (autosomal recessive)"	ATSV, C2orf20, SPG30		7539720, 10323250, 22258533	Standard	NM_001244008		Approved	UNC104	uc010fzk.3	Q12756	OTTHUMG00000151940	ENST00000320389.7:c.26C>T	2.37:g.241737144G>A	ENSP00000322791:p.Ala9Val					KIF1A_ENST00000320389.7_Missense_Mutation_p.A9V	p.A9V	NM_001244008.1	NP_001230937.1	Q12756	KIF1A_HUMAN		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)	2	272	-		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)	9			Kinesin-motor.		B0I1S5|F5H045|O95068|Q13355|Q14752|Q2NKJ6|Q4LE42|Q53T78|Q59GH1|Q63Z40|Q6P1R9|Q7KZ57	Missense_Mutation	SNP	ENST00000320389.7	37	c.26C>T	CCDS46561.1	.	.	.	.	.	.	.	.	.	.	G	34	5.411323	0.96072	.	.	ENSG00000130294	ENST00000320389;ENST00000498729;ENST00000373308;ENST00000404283;ENST00000448728	D;D;D;D	0.87966	-2.32;-2.32;-2.32;-2.32	4.78	4.78	0.61160	Kinesin, motor domain (3);	0.000000	0.85682	U	0.000000	D	0.88051	0.6333	N	0.17278	0.47	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.83275	0.951;0.993;0.996	D	0.87535	0.2455	10	0.31617	T	0.26	.	17.7694	0.88487	0.0:0.0:1.0:0.0	.	9;9;9	F5H045;Q12756-2;Q12756	.;.;KIF1A_HUMAN	V	9	ENSP00000322791:A9V;ENSP00000438388:A9V;ENSP00000384231:A9V;ENSP00000398686:A9V	ENSP00000322791:A9V	A	-	2	0	KIF1A	241385817	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.474000	0.97718	2.360000	0.80028	0.467000	0.42956	GCG		0.597	KIF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324536.3	NM_138483		6	24	0	0	0	1	0	6	24					A	241737144	G	A	241737144	3	1	305	1	0	0	0	0	1	0	0	0	8283	1087	38	1	5230	1	KIF1A	2	241737144	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	167363	241737144	1462229	203	14720											
SLC6A1	6529	broad.mit.edu	37	chr3	11067934	11067934	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttcagggactccatcatcGtctgctgcatcaattcgtgc	7	13	8	13	2	5	0	3	0	2	0	8	1	6	1	1	1	3	2	1	1	1	2			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr3:11067934G>A	ENST00000287766.4	+	10	1388	c.967G>A	c.(967-969)Gtc>Atc	p.V323I	SLC6A1_ENST00000536032.1_Missense_Mutation_p.V145I	NM_003042.3	NP_003033.3	P30531	SC6A1_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 1	323					gamma-aminobutyric acid import (GO:0051939)|learning (GO:0007612)|negative regulation of synaptic transmission, GABAergic (GO:0032229)|neurotransmitter secretion (GO:0007269)|positive regulation of gamma-aminobutyric acid secretion (GO:0014054)|protein homooligomerization (GO:0051260)|response to calcium ion (GO:0051592)|response to cocaine (GO:0042220)|response to estradiol (GO:0032355)|response to lead ion (GO:0010288)|response to purine-containing compound (GO:0014074)|response to sucrose (GO:0009744)|response to toxic substance (GO:0009636)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	axon (GO:0030424)|cell surface (GO:0009986)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	gamma-aminobutyric acid:sodium symporter activity (GO:0005332)|neurotransmitter:sodium symporter activity (GO:0005328)			breast(1)|endometrium(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	26		Ovarian(110;0.0392)		OV - Ovarian serous cystadenocarcinoma(96;0.00099)	Clobazam(DB00349)|Tiagabine(DB00906)	CTCCATCATCGTCTGCTGCAT	0.582																																						ENST00000287766.4																			0				breast(1)|endometrium(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	26						c.(967-969)Gtc>Atc		solute carrier family 6 (neurotransmitter transporter), member 1	Cocaine(DB00907)|Tiagabine(DB00906)						175	156	162					3																	11067934		2203	4300	6503	SO:0001583	missense	6529				neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity	g.chr3:11067934G>A		CCDS2603.1	3p25.3	2013-07-19	2013-07-19		ENSG00000157103	ENSG00000157103		"Solute carriers"	11042	protein-coding gene	gene with protein product	"GABA transporter 1"	137165	"solute carrier family 6 (neurotransmitter transporter, GABA), member 1"			8530094	Standard	NM_003042		Approved	GAT1, GABATR, GABATHG	uc010hdq.3	P30531	OTTHUMG00000044208	ENST00000287766.4:c.967G>A	3.37:g.11067934G>A	ENSP00000287766:p.Val323Ile					SLC6A1_ENST00000536032.1_Missense_Mutation_p.V145I	p.V323I	NM_003042.3	NP_003033.3	P30531	SC6A1_HUMAN		OV - Ovarian serous cystadenocarcinoma(96;0.00099)	10	1388	+		Ovarian(110;0.0392)	323					Q8N4K8	Missense_Mutation	SNP	ENST00000287766.4	37	c.967G>A	CCDS2603.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.066291	0.76187	.	.	ENSG00000157103	ENST00000287766;ENST00000536032	T;T	0.75704	-0.96;-0.96	5.61	5.61	0.85477	.	0.098719	0.42964	N	0.000628	T	0.65080	0.2657	L	0.31120	0.905	0.80722	D	1	P	0.40553	0.721	B	0.35114	0.196	T	0.65557	-0.6139	10	0.37606	T	0.19	.	19.9997	0.97405	0.0:0.0:1.0:0.0	.	323	P30531	SC6A1_HUMAN	I	323;145	ENSP00000287766:V323I;ENSP00000445171:V145I	ENSP00000287766:V323I	V	+	1	0	SLC6A1	11042934	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.608000	0.98331	2.813000	0.96785	0.655000	0.94253	GTC		0.582	SLC6A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102767.2	NM_003042		54	137	0	0	0	1	0	54	137					A	11067934	G	A	11067934	3	1	305	1	0	0	0	0	1	0	0	0	14673	1145	40	1	997	1	SLC6A1	3	11067934	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08		11067934	186954496	204	14721											
CAND2	23066	broad.mit.edu	37	chr3	12856694	12856694	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagctggaaggtgcgccgggCagctgccaagtgcatcgcag	8	5	17	11	3	0	0	0	0	0	0	1	2	0	1	2	3	5	5	2	3	2	0			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr3:12856694C>T	ENST00000456430.2	+	8	1102	c.1061C>T	c.(1060-1062)gCa>gTa	p.A354V	CAND2_ENST00000295989.5_Missense_Mutation_p.A261V	NM_001162499.1	NP_001155971.1	O75155	CAND2_HUMAN	cullin-associated and neddylation-dissociated 2 (putative)	354					positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	intracellular (GO:0005622)|nucleus (GO:0005634)				breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(8)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						GTGCGCCGGGCAGCTGCCAAG	0.597																																					GBM(43;676 868 1633 6395 37496)	ENST00000456430.2																			0				breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(8)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						c.(1060-1062)gCa>gTa		cullin-associated and neddylation-dissociated 2 (putative)							57	64	61					3																	12856694		2145	4252	6397	SO:0001583	missense	23066				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	g.chr3:12856694C>T		CCDS43053.1, CCDS54554.1	3p25.2	2008-02-05			ENSG00000144712	ENSG00000144712			30689	protein-coding gene	gene with protein product	"TBP interacting protein"	610403				9734811, 10441524	Standard	NM_012298		Approved	TIP120B, KIAA0667, Tp120b	uc003bxk.2	O75155	OTTHUMG00000155397	ENST00000456430.2:c.1061C>T	3.37:g.12856694C>T	ENSP00000387641:p.Ala354Val					CAND2_ENST00000295989.5_Missense_Mutation_p.A261V	p.A354V	NM_001162499.1	NP_001155971.1	O75155	CAND2_HUMAN			8	1102	+			354					B9EGM9|E9KL24	Missense_Mutation	SNP	ENST00000456430.2	37	c.1061C>T	CCDS54554.1	.	.	.	.	.	.	.	.	.	.	C	33	5.291207	0.95546	.	.	ENSG00000144712	ENST00000295989;ENST00000456430	T;T	0.11169	2.8;2.8	4.86	4.86	0.63082	Armadillo-like helical (1);Armadillo-type fold (1);	0.076940	0.51477	D	0.000096	T	0.41236	0.1150	M	0.91612	3.225	0.80722	D	1	D;D	0.67145	0.991;0.996	P;D	0.73380	0.889;0.98	T	0.52771	-0.8531	10	0.62326	D	0.03	-17.5145	15.4782	0.75501	0.0:1.0:0.0:0.0	.	354;261	O75155;O75155-2	CAND2_HUMAN;.	V	261;354	ENSP00000295989:A261V;ENSP00000387641:A354V	ENSP00000295989:A261V	A	+	2	0	CAND2	12831694	1.000000	0.71417	0.997000	0.53966	0.991000	0.79684	7.722000	0.84778	2.231000	0.72958	0.561000	0.74099	GCA		0.597	CAND2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339856.4	XM_371617		19	49	0	0	0	1	0	19	49					T	12856694	C	T	12856694	3	4	305	1	0	0	0	0	1	0	0	0	2616	710	25	3	1091	3	CAND2	3	12856694	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	1788760	12856694	185165736	205	14722											
IQSEC1	9922	broad.mit.edu	37	chr3	12977620	12977620	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcgagaggggcagagggggcGacagctcctcctcatcgatg	8	5	17	11	3	1	2	1	0	0	2	4	5	3	2	2	4	1	2	2	4	0	0			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr3:12977620G>A	ENST00000273221.4	-	3	1154	c.938C>T	c.(937-939)tCg>tTg	p.S313L	IQSEC1_ENST00000473088.1_5'Flank	NM_014869.5	NP_055684.3	Q6DN90	IQEC1_HUMAN	IQ motif and Sec7 domain 1	313					actin cytoskeleton organization (GO:0030036)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleolus (GO:0005730)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)			breast(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						CAGAGGGGGCGACAGCTCCTC	0.677																																						ENST00000273221.4																			0				breast(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						c.(937-939)tCg>tTg		IQ motif and Sec7 domain 1							51	55	54					3																	12977620		2203	4299	6502	SO:0001583	missense	9922				regulation of ARF protein signal transduction	cytoplasm|nucleus	ARF guanyl-nucleotide exchange factor activity	g.chr3:12977620G>A	BC010267	CCDS33703.1, CCDS74902.1	3p25.2	2011-09-23			ENSG00000144711	ENSG00000144711			29112	protein-coding gene	gene with protein product	"brefeldin A-resistant ARF-GEF2"	610166				9872452, 8619474	Standard	NM_001134382		Approved	KIAA0763, GEP100, BRAG2, ARF-GEP100	uc011auw.2	Q6DN90	OTTHUMG00000155398	ENST00000273221.4:c.938C>T	3.37:g.12977620G>A	ENSP00000273221:p.Ser313Leu						p.S313L	NM_014869.5	NP_055684.3	Q6DN90	IQEC1_HUMAN			3	1154	-			313					O94863|Q96D85	Missense_Mutation	SNP	ENST00000273221.4	37	c.938C>T	CCDS33703.1	.	.	.	.	.	.	.	.	.	.	G	18.55	3.649346	0.67358	.	.	ENSG00000144711	ENST00000273221;ENST00000435445;ENST00000429247	T;T	0.43294	0.95;0.95	4.86	4.86	0.63082	.	0.208477	0.42964	D	0.000630	T	0.57946	0.2088	.	.	.	0.58432	D	0.99999	D;D;D	0.89917	1.0;1.0;0.999	D;D;P	0.68039	0.909;0.955;0.876	T	0.55289	-0.8164	9	0.36615	T	0.2	.	11.6187	0.51104	0.0813:0.0:0.9187:0.0	.	299;299;313	E9PG60;C9JMG9;Q6DN90	.;.;IQEC1_HUMAN	L	313;299;299	ENSP00000273221:S313L;ENSP00000402299:S299L	ENSP00000273221:S313L	S	-	2	0	IQSEC1	12952620	1.000000	0.71417	0.956000	0.39512	0.411000	0.31082	9.275000	0.95738	2.515000	0.84797	0.655000	0.94253	TCG		0.677	IQSEC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339865.2	NM_014869		45	93	0	0	0	1	0	45	93					A	12977620	G	A	12977620	3	1	305	1	0	0	0	0	1	0	0	0	7817	1059	37	2	2546	2	IQSEC1	3	12977620	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	120926	12977620	185044810	206	14723											
SCN10A	6336	broad.mit.edu	37	chr3	38755531	38755531	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttgatgggagccacttcaGaatattccagaatcttcgct	10	13	8	10	1	2	3	1	1	1	2	4	4	3	4	2	1	1	1	2	1	3	5			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr3:38755531G>T	ENST00000449082.2	-	21	3721	c.3722C>A	c.(3721-3723)tCt>tAt	p.S1241Y		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	1241					AV node cell to bundle of His cell communication (GO:0086067)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of cardiac muscle contraction (GO:0055117)|regulation of heart rate (GO:0002027)|regulation of ion transmembrane transport (GO:0034765)|sensory perception (GO:0007600)|sensory perception of pain (GO:0019233)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	C-fiber (GO:0044299)|extracellular vesicular exosome (GO:0070062)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cinchocaine(DB00527)|Cocaine(DB00907)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Lacosamide(DB06218)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Orphenadrine(DB01173)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)|Valproic Acid(DB00313)	AGCCACTTCAGAATATTCCAG	0.512																																						ENST00000449082.2																			0				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150						c.(3721-3723)tCt>tAt		sodium channel, voltage-gated, type X, alpha subunit	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)						118	116	117					3																	38755531		2203	4300	6503	SO:0001583	missense	6336				sensory perception	voltage-gated sodium channel complex		g.chr3:38755531G>T	AF117907	CCDS33736.1	3p22.2	2012-02-26	2007-01-23		ENSG00000185313	ENSG00000185313		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10582	protein-coding gene	gene with protein product		604427	"sodium channel, voltage-gated, type X, alpha polypeptide"			9839820, 10198179, 16382098	Standard	NM_006514		Approved	Nav1.8, hPN3, SNS, PN3	uc003ciq.3	Q9Y5Y9	OTTHUMG00000048245	ENST00000449082.2:c.3722C>A	3.37:g.38755531G>T	ENSP00000390600:p.Ser1241Tyr						p.S1241Y	NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	21	3721	-			1241					A6NDQ1	Missense_Mutation	SNP	ENST00000449082.2	37	c.3722C>A	CCDS33736.1	.	.	.	.	.	.	.	.	.	.	G	15.22	2.769318	0.49680	.	.	ENSG00000185313	ENST00000449082	D	0.97710	-4.5	4.23	3.35	0.38373	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99029	0.9668	H	0.98612	4.28	0.36129	D	0.846022	D	0.89917	1.0	D	0.91635	0.999	D	0.99053	1.0828	10	0.87932	D	0	.	6.3187	0.21204	0.168:0.0:0.6821:0.15	.	1241	Q9Y5Y9	SCNAA_HUMAN	Y	1241	ENSP00000390600:S1241Y	ENSP00000390600:S1241Y	S	-	2	0	SCN10A	38730535	1.000000	0.71417	0.157000	0.22605	0.621000	0.37620	4.560000	0.60802	0.980000	0.38523	0.411000	0.27672	TCT		0.512	SCN10A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109745.3	NM_006514		6	111	1	0	0.0215528	1	0.0217133	6	111					T	38755531	G	T	38755531	3	4	305	1	0	0	0	0	1	0	0	0	13912	942	33	5	2176	5	SCN10A	3	38755531	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	25777911	38755531	159266899	207	14724											
CCR8	1237	broad.mit.edu	37	chr3	39373861	39373861	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcagtgtgacaacagtgacCgactactactaccctgatat	12	10	7	12	1	1	3	1	3	0	0	1	4	1	3	2	0	4	0	2	0	5	4	rs201075392		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr3:39373861C>T	ENST00000326306.4	+	2	177	c.39C>T	c.(37-39)acC>acT	p.T13T	CCR8_ENST00000414803.1_Silent_p.T13T|CCR8_ENST00000545843.1_5'UTR	NM_005201.3	NP_005192.1	P51685	CCR8_HUMAN	chemokine (C-C motif) receptor 8	13					cell adhesion (GO:0007155)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|positive regulation of cytosolic calcium ion concentration (GO:0007204)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	C-C chemokine receptor activity (GO:0016493)|chemokine receptor activity (GO:0004950)|coreceptor activity (GO:0015026)			NS(3)|breast(1)|endometrium(3)|large_intestine(5)|lung(7)|ovary(1)|skin(1)	21				KIRC - Kidney renal clear cell carcinoma(284;0.0504)|Kidney(284;0.0635)		CAACAGTGACCGACTACTACT	0.438																																						ENST00000326306.4																			0				NS(3)|breast(1)|endometrium(3)|large_intestine(5)|lung(7)|ovary(1)|skin(1)	21						c.(37-39)acC>acT		chemokine (C-C motif) receptor 8							151	136	141					3																	39373861		2203	4300	6503	SO:0001819	synonymous_variant	1237				cell adhesion|chemotaxis|elevation of cytosolic calcium ion concentration|immune response	integral to plasma membrane	coreceptor activity	g.chr3:39373861C>T	D49919	CCDS2684.1	3p22	2012-08-08			ENSG00000179934	ENSG00000179934		"GPCR / Class A : Chemokine receptors : C-C motif", "CD molecules"	1609	protein-coding gene	gene with protein product		601834		CMKBRL2, CMKBR8		8816377, 8886020	Standard	NM_005201		Approved	CY6, TER1, CKR-L1, GPR-CY6, CDw198	uc010hhr.2	P51685	OTTHUMG00000131290	ENST00000326306.4:c.39C>T	3.37:g.39373861C>T						CCR8_ENST00000545843.1_5'UTR|CCR8_ENST00000414803.1_Silent_p.T13T	p.T13T	NM_005201.3	NP_005192.1	P51685	CCR8_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0504)|Kidney(284;0.0635)	2	177	+			13					B2RC64|Q3KNQ8|Q3KNR3|Q9BYX5	Silent	SNP	ENST00000326306.4	37	c.39C>T	CCDS2684.1																																																																																				0.438	CCR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254058.2	NM_005201		36	96	0	0	0	1	0	36	96					T	39373861	C	T	39373861	2	4	305	1	0	0	0	0	0	0	0	1	2947	639	23	2		2	CCR8	3	39373861	Silent	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	618330	39373861	158648569	208	14725											
VIPR1	7433	broad.mit.edu	37	chr3	42572369	42572369	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tacctgtacaccctgcttgcCgtctccttcttctctgagcg	4	14	7	16	2	3	1	0	1	3	0	5	1	3	1	4	0	5	2	4	0	2	5	rs142317327		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr3:42572369C>T	ENST00000325123.4	+	7	848	c.735C>T	c.(733-735)gcC>gcT	p.A245A	VIPR1-AS1_ENST00000593621.1_RNA|VIPR1-AS1_ENST00000602176.1_RNA|VIPR1-AS1_ENST00000598837.1_RNA|VIPR1-AS1_ENST00000601312.1_RNA|VIPR1-AS1_ENST00000593611.1_RNA|VIPR1-AS1_ENST00000600342.1_RNA|VIPR1-AS1_ENST00000596630.1_RNA|VIPR1-AS1_ENST00000608869.1_RNA|VIPR1-AS1_ENST00000610022.1_RNA|VIPR1_ENST00000433647.1_Silent_p.A204A|VIPR1_ENST00000543411.1_Silent_p.A197A|VIPR1_ENST00000438259.2_Missense_Mutation_p.P42L|VIPR1-AS1_ENST00000452639.3_RNA	NM_001251885.1|NM_004624.3	NP_001238814.1|NP_004615.2	P32241	VIPR1_HUMAN	vasoactive intestinal peptide receptor 1	245					digestion (GO:0007586)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|immune response (GO:0006955)|muscle contraction (GO:0006936)|positive regulation of cell proliferation (GO:0008284)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	vasoactive intestinal polypeptide receptor activity (GO:0004999)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|ovary(2)|skin(1)|urinary_tract(3)	18				KIRC - Kidney renal clear cell carcinoma(284;0.241)		CCCTGCTTGCCGTCTCCTTCT	0.562																																						ENST00000438259.2																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|ovary(2)|skin(1)|urinary_tract(3)	18						c.(124-126)cCg>cTg		vasoactive intestinal peptide receptor 1				1,4405	2.1+/-5.4	0,1,2202	139	123	128		735	1.5	0.8	3	dbSNP_134	128	0,8600		0,0,4300	no	coding-synonymous	VIPR1	NM_004624.3		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		245/458	42572369	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	7433				digestion|G-protein signaling, coupled to cyclic nucleotide second messenger|immune response|muscle contraction|positive regulation of cell proliferation|synaptic transmission	integral to plasma membrane	vasoactive intestinal polypeptide receptor activity	g.chr3:42572369C>T	AH005329	CCDS2698.1, CCDS58827.1, CCDS58828.1, CCDS58829.1	3p22	2012-08-10			ENSG00000114812	ENSG00000114812		"GPCR / Class B : VIP and PACAP (ADCYAP1) receptors"	12694	protein-coding gene	gene with protein product	"VIP and PACAP receptor 1"	192321				7708752	Standard	NM_004624		Approved	VPAC1, RDC1, HVR1, VPAC1R	uc003clf.2	P32241	OTTHUMG00000131792	ENST00000325123.4:c.735C>T	3.37:g.42572369C>T						VIPR1-AS1_ENST00000598837.1_RNA|VIPR1_ENST00000433647.1_Silent_p.A204A|VIPR1-AS1_ENST00000452639.2_RNA|VIPR1_ENST00000325123.4_Silent_p.A245A|VIPR1-AS1_ENST00000602176.1_RNA|VIPR1-AS1_ENST00000601312.1_RNA|VIPR1-AS1_ENST00000600342.1_RNA|VIPR1-AS1_ENST00000596630.1_RNA|VIPR1-AS1_ENST00000593611.1_RNA|VIPR1-AS1_ENST00000593621.1_RNA|VIPR1_ENST00000543411.1_Silent_p.A197A	p.P42L	NM_001251883.1	NP_001238812.1	P32241	VIPR1_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.241)	4	511	+			0					A5JUT9|B3KPV1|B4DEB5|B4DGI4|F5H1F5|G3V0I1|Q15871|Q6P2M6	Missense_Mutation	SNP	ENST00000325123.4	37	c.125C>T	CCDS2698.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.948527	0.73787	2.27E-4	0.0	ENSG00000114812	ENST00000438259;ENST00000439731	T;T	0.56611	1.51;0.45	5.31	1.47	0.22746	.	.	.	.	.	T	0.36963	0.0986	.	.	.	0.31686	N	0.642469	B	0.11235	0.004	B	0.04013	0.001	T	0.34453	-0.9828	8	0.56958	D	0.05	.	3.1505	0.06486	0.123:0.5541:0.1192:0.2038	.	42	B4DEB5	.	L	42;201	ENSP00000415371:P42L;ENSP00000403478:P201L	ENSP00000415371:P42L	P	+	2	0	VIPR1	42547373	0.729000	0.28090	0.805000	0.32314	0.962000	0.63368	0.007000	0.13174	-0.015000	0.14150	0.557000	0.71058	CCG		0.562	VIPR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254728.4	NM_004624		9	105	0	0	0	1	0	9	105					T	42572369	C	T	42572369	2	4	305	1	0	0	0	0	0	0	0	1	17166	639	23	2		2	VIPR1	3	42572369	Silent	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	3198508	42572369	155450061	209	14726											
DHX30	22907	broad.mit.edu	37	chr3	47882577	47882577	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gccgggaagaagaggaggacGaggaggaagagctagaagaa	17	1	19	4	2	0	5	0	0	0	5	0	11	0	10	1	5	1	1	1	5	6	1			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr3:47882577G>A	ENST00000445061.1	+	7	984	c.577G>A	c.(577-579)Gag>Aag	p.E193K	DHX30_ENST00000457607.1_Missense_Mutation_p.E221K|DHX30_ENST00000446256.2_Missense_Mutation_p.E154K|DHX30_ENST00000348968.4_Missense_Mutation_p.E165K	NM_138615.2	NP_619520.1	Q7L2E3	DHX30_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 30	193	Poly-Glu.					cytoplasm (GO:0005737)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|chromatin binding (GO:0003682)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)			endometrium(3)|kidney(1)|large_intestine(11)|lung(13)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	37				BRCA - Breast invasive adenocarcinoma(193;0.000696)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)		AGAGGAGGACGAGGAGGAAGA	0.572																																						ENST00000446256.2																			0				endometrium(3)|kidney(1)|large_intestine(11)|lung(13)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	37						c.(460-462)Gag>Aag		DEAH (Asp-Glu-Ala-His) box helicase 30							49	50	49					3																	47882577		2203	4300	6503	SO:0001583	missense	22907					mitochondrial nucleoid	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding	g.chr3:47882577G>A	AB020697	CCDS2759.1	3p24.3-p22.1	2013-07-16	2013-07-16	2003-06-13	ENSG00000132153	ENSG00000132153		"DEAH-boxes"	16716	protein-coding gene	gene with protein product			"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 30", "DEAH (Asp-Glu-Ala-His) box polypeptide 30"	DDX30		10048485, 18022663	Standard	NM_138615		Approved	KIAA0890, FLJ11214	uc003cru.3	Q7L2E3	OTTHUMG00000133522	ENST00000445061.1:c.577G>A	3.37:g.47882577G>A	ENSP00000405620:p.Glu193Lys					DHX30_ENST00000457607.1_Missense_Mutation_p.E221K|DHX30_ENST00000445061.1_Missense_Mutation_p.E193K|DHX30_ENST00000348968.4_Missense_Mutation_p.E165K	p.E154K	NM_014966.3	NP_055781.2	Q7L2E3	DHX30_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000696)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)	8	1032	+			193					A8K5F1|O94965|Q7Z753|Q96CH4|Q9NUQ0	Missense_Mutation	SNP	ENST00000445061.1	37	c.460G>A	CCDS2759.1	.	.	.	.	.	.	.	.	.	.	G	19.55	3.848893	0.71603	.	.	ENSG00000132153	ENST00000446256;ENST00000445061;ENST00000348968;ENST00000457607	T;T;T;T	0.03468	3.96;3.94;3.96;3.92	4.64	4.64	0.57946	.	0.350334	0.26457	N	0.024274	T	0.07143	0.0181	L	0.44542	1.39	0.48632	D	0.999684	D;D;D	0.65815	0.991;0.995;0.995	P;P;P	0.53490	0.537;0.727;0.727	T	0.47959	-0.9076	10	0.09590	T	0.72	.	14.37	0.66833	0.0:0.0:1.0:0.0	.	193;154;221	Q7L2E3;Q7L2E3-3;Q7L2E3-2	DHX30_HUMAN;.;.	K	154;193;165;221	ENSP00000392601:E154K;ENSP00000405620:E193K;ENSP00000343442:E165K;ENSP00000394682:E221K	ENSP00000343442:E165K	E	+	1	0	DHX30	47857581	1.000000	0.71417	1.000000	0.80357	0.459000	0.32528	5.670000	0.68088	2.386000	0.81285	0.655000	0.94253	GAG		0.572	DHX30-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257495.2	NM_138615		11	40	0	0	0	1	0	11	40					A	47882577	G	A	47882577	3	1	305	1	0	0	0	0	1	0	0	0	4504	1059	37	2	606	2	DHX30	3	47882577	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	5310208	47882577	150139853	210	14727											
PFKFB4	5210	broad.mit.edu	37	chr3	48559455	48559455	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgcgtgttcacagcagccacGttcaggaatatggactccac	10	9	10	12	2	2	0	2	0	0	0	3	2	3	2	2	2	3	3	2	2	2	3	rs368202893		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr3:48559455G>A	ENST00000232375.3	-	13	1426	c.1314C>T	c.(1312-1314)aaC>aaT	p.N438N	PFKFB4_ENST00000416568.1_Silent_p.N431N|PFKFB4_ENST00000490115.1_5'UTR|PFKFB4_ENST00000541519.1_Silent_p.N404N|PFKFB4_ENST00000383734.2_Silent_p.N403N|PFKFB4_ENST00000536104.1_Silent_p.N427N	NM_004567.2	NP_004558.1	Q16877	F264_HUMAN	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 4	438	Fructose-2,6-bisphosphatase.				carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|fructose 2,6-bisphosphate metabolic process (GO:0006003)|fructose metabolic process (GO:0006000)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	6-phosphofructo-2-kinase activity (GO:0003873)|ATP binding (GO:0005524)|fructose-2,6-bisphosphate 2-phosphatase activity (GO:0004331)			breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|urinary_tract(1)	14				BRCA - Breast invasive adenocarcinoma(193;0.0003)|KIRC - Kidney renal clear cell carcinoma(197;0.00596)|Kidney(197;0.00684)		CAGCAGCCACGTTCAGGAATA	0.557																																						ENST00000232375.3																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|urinary_tract(1)	14						c.(1312-1314)aaC>aaT		6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 4							149	116	127					3																	48559455		2203	4300	6503	SO:0001819	synonymous_variant	5210				fructose 2,6-bisphosphate metabolic process|glycolysis	cytosol	6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity	g.chr3:48559455G>A	BC010269	CCDS2771.1	3p22-p21	2004-03-02			ENSG00000114268	ENSG00000114268			8875	protein-coding gene	gene with protein product		605320				8830046, 10095107	Standard	NM_004567		Approved		uc003ctv.3	Q16877	OTTHUMG00000133528	ENST00000232375.3:c.1314C>T	3.37:g.48559455G>A						PFKFB4_ENST00000383734.2_Silent_p.N403N|PFKFB4_ENST00000541519.1_Silent_p.N404N|PFKFB4_ENST00000536104.1_Silent_p.N427N|PFKFB4_ENST00000416568.1_Silent_p.N431N|PFKFB4_ENST00000490115.1_5'UTR	p.N438N	NM_004567.2	NP_004558.1	Q16877	F264_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.0003)|KIRC - Kidney renal clear cell carcinoma(197;0.00596)|Kidney(197;0.00684)	13	1426	-			438			Fructose-2,6-bisphosphatase.		Q5S3G5|Q5XLC2|Q64EX5	Silent	SNP	ENST00000232375.3	37	c.1314C>T	CCDS2771.1																																																																																				0.557	PFKFB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257503.2	NM_004567		17	64	0	0	0	1	0	17	64					A	48559455	G	A	48559455	2	1	305	1	0	0	0	0	0	0	0	1	11763	1136	40	1		1	PFKFB4	3	48559455	Silent	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	676878	48559455	149462975	211	14728											
COL7A1	1294	broad.mit.edu	37	chr3	48612934	48612935	+	Frame_Shift_Ins	INS	-	-	C																															ggccagggtctccacggtcgINScccttcagcccgcgttctcc																								rs121912842|rs367583660		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr3:48612934_48612935insC	ENST00000328333.8	-	73	6124_6125	c.6017_6018insG	c.(6016-6018)ggcfs	p.G2006fs	COL7A1_ENST00000454817.1_Frame_Shift_Ins_p.G1974fs	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	2006	Triple-helical region.		G -> A (in DDEB).|G -> D (in DDEB; interferes with collagen VII folding and secretion). {ECO:0000269|PubMed:10084325, ECO:0000269|PubMed:9668111}.		cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|collagen type VII trimer (GO:0005590)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	serine-type endopeptidase inhibitor activity (GO:0004867)			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		CTCCACGGTCGCCCTTCAGCCC	0.688																																						ENST00000328333.8																			0				NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137	GRCh37	CD072373|CM980406|CM992847	COL7A1	D|M	rs121912842	c.(6016-6018)ggafs		collagen, type VII, alpha 1																																				SO:0001589	frameshift_variant	1294				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity	g.chr3:48612934_48612935insC	L02870	CCDS2773.1	3p21.1	2014-09-17	2008-08-01		ENSG00000114270	ENSG00000114270		"Collagens", "Fibronectin type III domain containing"	2214	protein-coding gene	gene with protein product	"collagen VII, alpha-1 polypeptide", "LC collagen"	120120	"epidermolysis bullosa, dystrophic, dominant and recessive"	EBDCT, EBD1, EBR1		1871109	Standard	NM_000094		Approved		uc003ctz.2	Q02388	OTTHUMG00000133541	ENST00000328333.8:c.6018dupG	3.37:g.48612937_48612937dupC	ENSP00000332371:p.Gly2006fs					COL7A1_ENST00000454817.1_Frame_Shift_Ins_p.G1974fs	p.G2006fs	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)	73	6124_6125	-			2006		G -> A (in DDEB).|G -> D (in DDEB; interferes with collagen VII folding and secretion).	Triple-helical region.		Q14054|Q16507	Frame_Shift_Ins	INS	ENST00000328333.8	37	c.6017_6018insG	CCDS2773.1																																																																																				0.688	COL7A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257519.1	NM_000094		14	40						14	40	---	---	---	---	C	48612935	-	C	48612934	7	5	305	1	0	1	1	0	0	0	0	0	3704	1074	38	0	3000	0	COL7A1	3	48612934	Frame_Shift_Ins	INS	-	TCGA-KK-A59V-01A-11D-A29Q-08	53479	48612934	149409496	212	14729											
SLC26A6	65010	broad.mit.edu	37	chr3	48670955	48670955	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcctaggtgctgagccccagCgccccagctcctccaaatgc	7	7	9	18	1	0	1	0	1	0	0	3	1	3	1	7	1	5	2	7	1	2	1			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr3:48670955C>T	ENST00000395550.2	-	2	184	c.137G>A	c.(136-138)cGc>cAc	p.R46H	SLC26A6_ENST00000455886.2_Missense_Mutation_p.R46H|SLC26A6_ENST00000482282.1_5'UTR|SLC26A6_ENST00000383733.3_Missense_Mutation_p.R46H|SLC26A6_ENST00000337000.8_Missense_Mutation_p.R46H|SLC26A6_ENST00000420764.2_Missense_Mutation_p.R46H|SLC26A6_ENST00000358747.6_Missense_Mutation_p.R25H			Q9BXS9	S26A6_HUMAN	solute carrier family 26 (anion exchanger), member 6	46					angiotensin-activated signaling pathway (GO:0038166)|anion transport (GO:0006820)|bicarbonate transport (GO:0015701)|cellular response to cAMP (GO:0071320)|cellular response to fructose stimulus (GO:0071332)|cellular response to interferon-gamma (GO:0071346)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|epithelial fluid transport (GO:0042045)|formate transport (GO:0015724)|intestinal absorption (GO:0050892)|intracellular pH elevation (GO:0051454)|ion transport (GO:0006811)|mannitol transport (GO:0015797)|oxalate transport (GO:0019532)|oxalic acid secretion (GO:0046724)|positive regulation of dipeptide transmembrane transport (GO:2001150)|protein kinase C signaling (GO:0070528)|regulation of intracellular pH (GO:0051453)|sperm capacitation (GO:0048240)|sulfate transmembrane transport (GO:1902358)|sulfate transport (GO:0008272)|transepithelial chloride transport (GO:0030321)|transepithelial transport (GO:0070633)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|chloride channel complex (GO:0034707)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane-bounded vesicle (GO:0031988)|plasma membrane (GO:0005886)|sperm midpiece (GO:0097225)|vesicle membrane (GO:0012506)	anion:anion antiporter activity (GO:0015301)|bicarbonate transmembrane transporter activity (GO:0015106)|chloride channel activity (GO:0005254)|chloride transmembrane transporter activity (GO:0015108)|efflux transmembrane transporter activity (GO:0015562)|formate efflux transmembrane transporter activity (GO:0015660)|formate transmembrane transporter activity (GO:0015499)|formate uptake transmembrane transporter activity (GO:0015659)|oxalate transmembrane transporter activity (GO:0019531)|PDZ domain binding (GO:0030165)|secondary active sulfate transmembrane transporter activity (GO:0008271)|sulfate transmembrane transporter activity (GO:0015116)		SLC26A6/PRKAR2A(2)	NS(1)|breast(1)|cervix(1)|endometrium(3)|large_intestine(1)|lung(11)|ovary(1)	19				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00609)		TGAGCCCCAGCGCCCCAGCTC	0.652																																					NSCLC(13;369 479 28271 30152 44026)	ENST00000358747.6																		SLC26A6/PRKAR2A(2)	0				NS(1)|breast(1)|cervix(1)|endometrium(3)|large_intestine(1)|lung(11)|ovary(1)	19						c.(73-75)cGc>cAc		solute carrier family 26 (anion exchanger), member 6							69	75	73					3																	48670955		2022	4182	6204	SO:0001583	missense	65010							g.chr3:48670955C>T	AF279265	CCDS43087.1, CCDS46824.1, CCDS46825.1, CCDS46826.1, CCDS63627.1, CCDS63628.1	3p21.31	2013-08-05	2013-07-18		ENSG00000225697	ENSG00000225697		"Solute carriers"	14472	protein-coding gene	gene with protein product	"pendrin-like protein 1", "pendrin L1", "sulfate anion transporter", "anion transporter 1"	610068	"solute carrier family 26, member 6"			11087667, 11247665	Standard	NM_022911		Approved	DKFZp586E1422		Q9BXS9	OTTHUMG00000186381	ENST00000395550.2:c.137G>A	3.37:g.48670955C>T	ENSP00000378920:p.Arg46His					SLC26A6_ENST00000420764.2_Missense_Mutation_p.R46H|SLC26A6_ENST00000337000.8_Missense_Mutation_p.R46H|SLC26A6_ENST00000395550.2_Missense_Mutation_p.R46H|SLC26A6_ENST00000455886.2_Missense_Mutation_p.R46H|SLC26A6_ENST00000482282.1_5'UTR|SLC26A6_ENST00000383733.3_Missense_Mutation_p.R46H	p.R25H	NM_001040454.1	NP_001035544.1				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00609)	1	324	-								B4DMZ1|Q548A7|Q96Q90|Q9NQU1	Missense_Mutation	SNP	ENST00000395550.2	37	c.74G>A	CCDS43087.1	.	.	.	.	.	.	.	.	.	.	C	13.78	2.340309	0.41398	.	.	ENSG00000225697	ENST00000420764;ENST00000395550;ENST00000383733;ENST00000337000;ENST00000447978;ENST00000358747;ENST00000455886;ENST00000431739;ENST00000426599	D;D;D;D;D;D;D;D	0.93019	-2.99;-2.99;-3.1;-3.0;-3.0;-3.15;-2.74;-2.84	4.97	-2.27	0.06846	.	.	.	.	.	D	0.82398	0.5028	N	0.08118	0	0.09310	N	1	B;B;B;B;B;B	0.23058	0.0;0.0;0.0;0.002;0.002;0.079	B;B;B;B;B;B	0.15870	0.0;0.0;0.001;0.001;0.001;0.014	T	0.68243	-0.5460	9	0.30078	T	0.28	.	9.306	0.37876	0.0:0.4034:0.0:0.5966	.	46;46;46;46;46;3440	B4DMZ1;G3XAC1;Q9BXS9-2;Q548A7;Q9BXS9;Q5Y190	.;.;.;.;S26A6_HUMAN;.	H	46;46;46;46;46;25;46;46;46	ENSP00000404684:R46H;ENSP00000378920:R46H;ENSP00000373239:R46H;ENSP00000337648:R46H;ENSP00000351597:R25H;ENSP00000401066:R46H;ENSP00000401813:R46H;ENSP00000405872:R46H	ENSP00000307089:R46H	R	-	2	0	SLC26A6	48645959	0.000000	0.05858	0.001000	0.08648	0.513000	0.34164	-0.672000	0.05244	-0.469000	0.06911	-0.459000	0.05422	CGC		0.652	SLC26A6-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000345040.1	NM_022911		43	98	0	0	0	1	0	43	98					T	48670955	C	T	48670955	3	4	305	1	0	0	0	0	1	0	0	0	14521	768	27	1	2258	1	SLC26A6	3	48670955	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	58021	48670955	149351475	213	14730											
NCKIPSD	51517	broad.mit.edu	37	chr3	48719968	48719968	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcgtgacagggtctctttcCggtggtggatcagcttcctg	4	13	14	10	2	2	1	1	1	1	0	5	2	4	2	2	4	2	1	2	4	0	2			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr3:48719968C>T	ENST00000294129.2	-	3	418	c.299G>A	c.(298-300)cGg>cAg	p.R100Q	NCKIPSD_ENST00000416649.2_Missense_Mutation_p.R100Q|NCKIPSD_ENST00000341520.4_Missense_Mutation_p.R100Q	NM_016453.2	NP_057537.1	Q9NZQ3	SPN90_HUMAN	NCK interacting protein with SH3 domain	100					cytoskeleton organization (GO:0007010)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|NLS-bearing protein import into nucleus (GO:0006607)|signal transduction (GO:0007165)	cytosol (GO:0005829)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	cytoskeletal protein binding (GO:0008092)			endometrium(1)|large_intestine(3)|lung(6)|prostate(1)	11				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		GGTCTCTTTCCGGTGGTGGAT	0.567																																						ENST00000294129.2																			0				endometrium(1)|large_intestine(3)|lung(6)|prostate(1)	11						c.(298-300)cGg>cAg		NCK interacting protein with SH3 domain							83	86	85					3																	48719968		2203	4300	6503	SO:0001583	missense	51517				cytoskeleton organization|NLS-bearing substrate import into nucleus|signal transduction	intermediate filament|nucleus	cytoskeletal protein binding|SH3 domain binding	g.chr3:48719968C>T	AF178432	CCDS2776.1, CCDS46827.1	3p21	2008-07-18			ENSG00000213672	ENSG00000213672			15486	protein-coding gene	gene with protein product	"dia interacting protein", "diaphanous protein interacting protein", "SH3 protein interacting with Nck, 90 kDa"	606671				10648423, 10619843	Standard	NM_016453		Approved	AF3P21, SPIN90, ORF1, WISH, WASLBP, DIP1	uc003cun.3	Q9NZQ3	OTTHUMG00000133542	ENST00000294129.2:c.299G>A	3.37:g.48719968C>T	ENSP00000294129:p.Arg100Gln					NCKIPSD_ENST00000341520.4_Missense_Mutation_p.R100Q|NCKIPSD_ENST00000416649.2_Missense_Mutation_p.R100Q	p.R100Q	NM_016453.2	NP_057537.1	Q9NZQ3	SPN90_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)	3	418	-			100					B4DFL5|Q6GU34|Q6SPF3|Q8TC10|Q9UGM8	Missense_Mutation	SNP	ENST00000294129.2	37	c.299G>A	CCDS2776.1	.	.	.	.	.	.	.	.	.	.	C	31	5.100331	0.94245	.	.	ENSG00000213672	ENST00000341520;ENST00000416649;ENST00000294129;ENST00000439518;ENST00000453349	T;T;T;T	0.61742	0.08;0.71;0.66;0.67	4.63	4.63	0.57726	.	0.000000	0.64402	U	0.000004	T	0.74168	0.3681	M	0.66939	2.045	0.53688	D	0.999979	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.81914	0.991;0.988;0.995	T	0.75803	-0.3189	10	0.46703	T	0.11	.	17.4718	0.87648	0.0:1.0:0.0:0.0	.	100;100;100	C9JSC3;Q9NZQ3;Q9NZQ3-3	.;SPN90_HUMAN;.	Q	100;100;100;100;22	ENSP00000342621:R100Q;ENSP00000389059:R100Q;ENSP00000294129:R100Q;ENSP00000409675:R100Q	ENSP00000294129:R100Q	R	-	2	0	NCKIPSD	48694972	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	5.678000	0.68153	2.113000	0.64589	0.591000	0.81541	CGG		0.567	NCKIPSD-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257520.1	NM_016453		35	89	0	0	0	1	0	35	89					T	48719968	C	T	48719968	3	4	305	1	0	0	0	0	1	0	0	0	10225	652	23	2	1913	2	NCKIPSD	3	48719968	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	49013	48719968	149302462	214	14731											
APEH	327	broad.mit.edu	37	chr3	49712736	49712736	+	Frame_Shift_Del	DEL	G	G	-																															aggcaacagtgtggagacccGgggggagtaagtttgaggga																										TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr3:49712736delG	ENST00000296456.5	+	3	666	c.266delG	c.(265-267)cggfs	p.R89fs	APEH_ENST00000438011.1_Frame_Shift_Del_p.R89fs	NM_001640.3	NP_001631.3	P13798	ACPH_HUMAN	acylaminoacyl-peptide hydrolase	89					beta-amyloid metabolic process (GO:0050435)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear membrane (GO:0031965)	omega peptidase activity (GO:0008242)|poly(A) RNA binding (GO:0044822)|serine-type endopeptidase activity (GO:0004252)			endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|stomach(2)|urinary_tract(1)	15				BRCA - Breast invasive adenocarcinoma(193;4.53e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		GTGGAGACCCGGGGGGAGTAA	0.562																																						ENST00000296456.5																			0				endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|stomach(2)|urinary_tract(1)	15						c.(265-267)cgfs		acylaminoacyl-peptide hydrolase							65	58	60					3																	49712736		2203	4300	6503	SO:0001589	frameshift_variant	327				proteolysis	cytoplasm|nuclear membrane	serine-type endopeptidase activity	g.chr3:49712736delG	D38441	CCDS2801.1	3p21	2013-05-29	2013-05-29		ENSG00000164062	ENSG00000164062	3.4.19.1		586	protein-coding gene	gene with protein product	"acylaminoacyl-peptidase"	102645	"N-acylaminoacyl-peptide hydrolase"	D3F15S2, DNF15S2, D3S48E		2392324	Standard	NM_001640		Approved		uc003cxf.3	P13798	OTTHUMG00000156882	ENST00000296456.5:c.266delG	3.37:g.49712736delG	ENSP00000296456:p.Arg89fs					APEH_ENST00000438011.1_Frame_Shift_Del_p.R89fs	p.R89fs	NM_001640.3	NP_001631.3	P13798	ACPH_HUMAN		BRCA - Breast invasive adenocarcinoma(193;4.53e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	3	666	+			89					Q9BQ33|Q9P0Y2	Frame_Shift_Del	DEL	ENST00000296456.5	37	c.266delG	CCDS2801.1																																																																																				0.562	APEH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346415.2			9	21						9	21	---	---	---	---	-	49712736	G	-	49712736	7	5	305	1	0	1	0	1	0	0	0	0	768	1116	39	0	276	0	APEH	3	49712736	Frame_Shift_Del	DEL	G	TCGA-KK-A59V-01A-11D-A29Q-08	992768	49712736	148309694	215	14732											
AMIGO3	29925	broad.mit.edu	37	chr3	49756813	49756814	+	3'UTR	INS	-	-	G																															ggggcagttgtggagcgcacINSggggcgggaaaccctcggag																										TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr3:49756813_49756814insG	ENST00000480687.1	-	0	3570_3571				AMIGO3_ENST00000320431.7_Frame_Shift_Ins_p.R29fs|RNF123_ENST00000433785.1_Intron|AMIGO3_ENST00000535833.1_Frame_Shift_Ins_p.R29fs|RNF123_ENST00000327697.6_Intron|RNF123_ENST00000497099.1_Intron			Q9Y5P6	GMPPB_HUMAN	GDP-mannose pyrophosphorylase B						cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|GDP-mannose biosynthetic process (GO:0009298)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)|mannose-1-phosphate guanylyltransferase activity (GO:0004475)			endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|skin(1)	6				BRCA - Breast invasive adenocarcinoma(193;4.53e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		GTGGAGCGCACGGGGCGGGAAA	0.653											OREG0015572	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000535833.1																			0				endometrium(1)|pancreas(1)|prostate(2)|urinary_tract(1)	5						c.(85-87)tgcfs		adhesion molecule with Ig-like domain 3																																				SO:0001624	3_prime_UTR_variant	386724				heterophilic cell-cell adhesion	integral to membrane		g.chr3:49756813_49756814insG	AF135421	CCDS2802.1, CCDS2803.1	3p21.31	2008-02-05			ENSG00000173540	ENSG00000173540	2.7.7.22		22932	protein-coding gene	gene with protein product		615320					Standard	NM_013334		Approved	KIAA1851	uc003cxl.1	Q9Y5P6	OTTHUMG00000158151	ENST00000480687.1:c.*2372->C	3.37:g.49756817_49756817dupG			OREG0015572	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	964	RNF123_ENST00000327697.6_Intron|AMIGO3_ENST00000320431.7_Frame_Shift_Ins_p.C29fs|RNF123_ENST00000497099.1_Intron|GMPPB_ENST00000480687.1_3'UTR|RNF123_ENST00000433785.1_Intron	p.C29fs			Q86WK7	AMGO3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	10	3535_3536	-			29			LRRNT.		A8K6N5|Q9H7U3	Frame_Shift_Ins	INS	ENST00000480687.1	37	c.85_86insC	CCDS2803.1																																																																																				0.653	GMPPB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350291.1	NM_013334		25	114						25	114	---	---	---	---	G	49756814	-	G	49756813	6	5	305	0	1	1	1	0	0	0	0	0	577	536	19	0		0	AMIGO3	3	49756813	3'UTR	INS	-	TCGA-KK-A59V-01A-11D-A29Q-08	44077	49756813	148265617	216	14733											
DOCK3	1795	broad.mit.edu	37	chr3	51378749	51378749	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggaattcctccactacccatCgcagacagagtggcagcgga	11	6	11	13	2	0	2	0	0	0	2	3	4	2	4	3	3	2	2	3	3	2	2			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr3:51378749C>T	ENST00000266037.9	+	38	3871	c.3848C>T	c.(3847-3849)tCg>tTg	p.S1283L		NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	1283	DHR-2.				small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		CACTACCCATCGCAGACAGAG	0.552																																						ENST00000266037.9																			0				breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45						c.(3847-3849)tCg>tTg		dedicator of cytokinesis 3							55	59	58					3																	51378749		2072	4203	6275	SO:0001583	missense	1795					cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding	g.chr3:51378749C>T	AB002297	CCDS46835.1	3p21	2008-02-01			ENSG00000088538	ENSG00000088538			2989	protein-coding gene	gene with protein product		603123	"dedicator of cyto-kinesis 3"			9205841	Standard	NM_004947		Approved	KIAA0299, MOCA, PBP	uc011bds.2	Q8IZD9	OTTHUMG00000156892	ENST00000266037.9:c.3848C>T	3.37:g.51378749C>T	ENSP00000266037:p.Ser1283Leu						p.S1283L	NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)	38	3871	+			1283			DHR-2.		O15017	Missense_Mutation	SNP	ENST00000266037.9	37	c.3848C>T	CCDS46835.1	.	.	.	.	.	.	.	.	.	.	C	16.20	3.056645	0.55325	.	.	ENSG00000088538	ENST00000266037;ENST00000402669	T	0.05258	3.47	6.06	6.06	0.98353	.	0.344316	0.34245	N	0.004134	T	0.07234	0.0183	L	0.40543	1.245	0.44956	D	0.997974	B	0.33238	0.403	B	0.15052	0.012	T	0.37314	-0.9711	10	0.29301	T	0.29	.	20.6208	0.99490	0.0:1.0:0.0:0.0	.	1283	Q8IZD9	DOCK3_HUMAN	L	1283;79	ENSP00000266037:S1283L	ENSP00000266037:S1283L	S	+	2	0	DOCK3	51353789	0.058000	0.20735	0.992000	0.48379	0.982000	0.71751	3.332000	0.52083	2.882000	0.98803	0.655000	0.94253	TCG		0.552	DOCK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346478.5	NM_004947		10	21	0	0	0	1	0	10	21					T	51378749	C	T	51378749	3	4	305	1	0	0	0	0	1	0	0	0	4688	893	31	2	3998	2	DOCK3	3	51378749	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	1621936	51378749	146643681	217	14734											
PCBP4	57060	broad.mit.edu	37	chr3	51993254	51993254	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggtggcttacctggcaccaCgctgggtgtggcaaagggga	7	7	18	9	1	0	0	0	0	0	0	0	1	0	1	2	7	1	4	2	7	2	1			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr3:51993254C>T	ENST00000461554.1	-	11	1022	c.691G>A	c.(691-693)Gtg>Atg	p.V231M	PCBP4_ENST00000484633.1_Missense_Mutation_p.V188M|PCBP4_ENST00000355852.2_Missense_Mutation_p.V231M|PCBP4_ENST00000322099.7_Missense_Mutation_p.V231M|PCBP4_ENST00000428823.2_Missense_Mutation_p.V188M|PCBP4_ENST00000395013.3_Missense_Mutation_p.V71M|RP11-155D18.12_ENST00000488257.1_RNA|PCBP4_ENST00000395014.2_Missense_Mutation_p.V252M|PCBP4_ENST00000471622.1_Missense_Mutation_p.V231M	NM_001174100.1	NP_001167571.1	P57723	PCBP4_HUMAN	poly(rC) binding protein 4	231						cytoplasm (GO:0005737)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(2)|large_intestine(2)|lung(2)|prostate(1)|stomach(1)	8				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000534)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		CCTGGCACCACGCTGGGTGTG	0.627																																						ENST00000461554.1																			0				endometrium(2)|large_intestine(2)|lung(2)|prostate(1)|stomach(1)	8						c.(691-693)Gtg>Atg		poly(rC) binding protein 4							74	64	68					3																	51993254		2203	4300	6503	SO:0001583	missense	57060					cytoplasm|ribonucleoprotein complex	DNA binding|RNA binding	g.chr3:51993254C>T	AF176330	CCDS2839.1, CCDS2840.1, CCDS2840.2	3p21	2013-07-16	2001-11-28		ENSG00000090097	ENSG00000090097			8652	protein-coding gene	gene with protein product	"RNA binding protein MCG10", "LYST-interacting protein", "alphaCP-4 protein"	608503	"poly(rC)-binding protein 4"			10936052	Standard	NM_033008		Approved	MCG10, LIP4	uc003dch.2	P57723	OTTHUMG00000157366	ENST00000461554.1:c.691G>A	3.37:g.51993254C>T	ENSP00000417196:p.Val231Met					PCBP4_ENST00000484633.1_Missense_Mutation_p.V188M|PCBP4_ENST00000395014.2_Missense_Mutation_p.V252M|PCBP4_ENST00000471622.1_Missense_Mutation_p.V231M|PCBP4_ENST00000355852.2_Missense_Mutation_p.V231M|PCBP4_ENST00000395013.3_Missense_Mutation_p.V71M|PCBP4_ENST00000428823.2_Missense_Mutation_p.V188M|PCBP4_ENST00000322099.7_Missense_Mutation_p.V231M	p.V231M	NM_001174100.1	NP_001167571.1	P57723	PCBP4_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000534)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	11	1022	-			231					Q96AH7	Missense_Mutation	SNP	ENST00000461554.1	37	c.691G>A	CCDS2839.1	.	.	.	.	.	.	.	.	.	.	C	12.77	2.037305	0.35989	.	.	ENSG00000090097	ENST00000355852;ENST00000322099;ENST00000461554;ENST00000484633;ENST00000395013;ENST00000428823;ENST00000395014;ENST00000471622;ENST00000294192	T;T;T;T;T;T;T;T	0.34859	1.45;1.45;1.45;1.4;1.34;1.4;1.43;1.92	4.1	3.18	0.36537	.	0.254038	0.36134	N	0.002773	T	0.24890	0.0604	L	0.40543	1.245	0.34038	D	0.654662	B;B;B;B;B;B	0.28552	0.03;0.063;0.159;0.076;0.215;0.027	B;B;B;B;B;B	0.23852	0.009;0.032;0.018;0.012;0.049;0.006	T	0.26643	-1.0097	10	0.33141	T	0.24	-4.8136	6.9684	0.24635	0.0:0.8545:0.0:0.1455	.	231;188;71;231;252;197	C9J0A4;P57723-2;B3KM64;P57723;Q9GZT1;Q9HCU2	.;.;.;PCBP4_HUMAN;.;.	M	231;231;231;188;71;188;252;231;231	ENSP00000348111:V231M;ENSP00000322341:V231M;ENSP00000417196:V231M;ENSP00000417100:V188M;ENSP00000378460:V71M;ENSP00000395030:V188M;ENSP00000378461:V252M;ENSP00000418925:V231M	ENSP00000294192:V231M	V	-	1	0	PCBP4	51968294	0.979000	0.34478	0.913000	0.36048	0.323000	0.28346	0.948000	0.29096	0.985000	0.38656	0.563000	0.77884	GTG		0.627	PCBP4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348597.1	NM_020418		19	60	0	0	0	1	0	19	60					T	51993254	C	T	51993254	3	4	305	1	0	0	0	0	1	0	0	0	11503	536	19	1	536	1	PCBP4	3	51993254	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	614505	51993254	146029176	218	14735											
CACNA1D	776	broad.mit.edu	37	chr3	53785896	53785896	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttcgaatacatgatgtttGtcctcatcatgctcaacaca	11	14	5	11	1	3	1	3	1	0	0	5	2	4	1	1	0	3	2	1	0	3	3			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr3:53785896G>A	ENST00000350061.5	+	28	4148	c.3637G>A	c.(3637-3639)Gtc>Atc	p.V1213I	CACNA1D_ENST00000288139.4_Missense_Mutation_p.V1233I|CACNA1D_ENST00000540742.1_Missense_Mutation_p.V120I|CACNA1D_ENST00000422281.2_Missense_Mutation_p.V1213I	NM_001128840.1	NP_001122312.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit	1213					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|energy reserve metabolic process (GO:0006112)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane repolarization during SA node cell action potential (GO:0086052)|positive regulation of calcium ion transport (GO:0051928)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of insulin secretion (GO:0050796)|regulation of potassium ion transmembrane transport (GO:1901379)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|sensory perception of sound (GO:0007605)|small molecule metabolic process (GO:0044281)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|ankyrin binding (GO:0030506)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)|voltage-gated calcium channel activity involved in cardiac muscle cell action potential (GO:0086007)|voltage-gated calcium channel activity involved SA node cell action potential (GO:0086059)			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	CATGATGTTTGTCCTCATCAT	0.527																																						ENST00000288139.3																			0				breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90						c.(3697-3699)Gtc>Atc		calcium channel, voltage-dependent, L type, alpha 1D subunit	Verapamil(DB00661)						248	208	222					3																	53785896		2203	4300	6503	SO:0001583	missense	776				axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr3:53785896G>A	AB209171	CCDS2872.1, CCDS46848.1, CCDS46849.1	3p14.3	2012-03-07			ENSG00000157388	ENSG00000157388		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1391	protein-coding gene	gene with protein product		114206		CCHL1A2, CACNL1A2		1664412	Standard	NM_000720		Approved	Cav1.3, CACH3, CACN4	uc003dgu.5	Q01668	OTTHUMG00000158278	ENST00000350061.5:c.3637G>A	3.37:g.53785896G>A	ENSP00000288133:p.Val1213Ile					CACNA1D_ENST00000350061.5_Missense_Mutation_p.V1213I|CACNA1D_ENST00000540742.1_Missense_Mutation_p.V120I|CACNA1D_ENST00000422281.2_Missense_Mutation_p.V1213I	p.V1233I	NM_000720.2	NP_000711.1	Q01668	CAC1D_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	29	3815	+			1213					B0FYA3|Q13916|Q13931|Q71UT1|Q9UDC3	Missense_Mutation	SNP	ENST00000350061.5	37	c.3697G>A	CCDS46848.1	.	.	.	.	.	.	.	.	.	.	G	16.01	3.000627	0.54254	.	.	ENSG00000157388	ENST00000350061;ENST00000288139;ENST00000422281;ENST00000481478;ENST00000540742	D;D;D;D;D	0.97480	-4.4;-4.4;-4.4;-4.4;-4.4	5.92	5.92	0.95590	.	0.071037	0.56097	D	0.000029	D	0.93949	0.8063	L	0.35593	1.075	0.80722	D	1	B;B;B;B;B	0.32620	0.076;0.002;0.009;0.017;0.378	B;B;B;B;B	0.33750	0.081;0.007;0.022;0.013;0.169	D	0.91970	0.5586	10	0.33141	T	0.24	.	13.5092	0.61502	0.0709:0.0:0.929:0.0	.	1213;120;906;1213;1233	B0FYA3;F5H313;Q59GD8;Q01668;Q01668-2	.;.;.;CAC1D_HUMAN;.	I	1213;1233;1213;906;120	ENSP00000288133:V1213I;ENSP00000288139:V1233I;ENSP00000409174:V1213I;ENSP00000418014:V906I;ENSP00000438229:V120I	ENSP00000288139:V1233I	V	+	1	0	CACNA1D	53760936	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.906000	0.63293	2.804000	0.96469	0.655000	0.94253	GTC		0.527	CACNA1D-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350557.1	NM_000720		17	197	0	0	0	1	0	17	197					A	53785896	G	A	53785896	3	1	305	1	0	0	0	0	1	0	0	0	2541	1377	48	3	3919	3	CACNA1D	3	53785896	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	1792642	53785896	144236534	219	14736											
CACNA1D	776	broad.mit.edu	37	chr3	53834368	53834370	+	In_Frame_Del	DEL	AGA	AGA	-																															gagcctgaggaaacaaaacgAgaagaagaagatgatgtgtt																								rs147973409	byFrequency	TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr3:53834368_53834370delAGA	ENST00000350061.5	+	41	5527_5529	c.5016_5018delAGA	c.(5014-5019)cgagaa>cga	p.E1675del	CACNA1D_ENST00000288139.4_In_Frame_Del_p.E1695del|CACNA1D_ENST00000422281.2_In_Frame_Del_p.E1660del|RP11-884K10.6_ENST00000607740.1_RNA|CACNA1D_ENST00000544977.1_In_Frame_Del_p.E54del	NM_001128840.1	NP_001122312.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit	1675					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|energy reserve metabolic process (GO:0006112)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane repolarization during SA node cell action potential (GO:0086052)|positive regulation of calcium ion transport (GO:0051928)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of insulin secretion (GO:0050796)|regulation of potassium ion transmembrane transport (GO:1901379)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|sensory perception of sound (GO:0007605)|small molecule metabolic process (GO:0044281)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|ankyrin binding (GO:0030506)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)|voltage-gated calcium channel activity involved in cardiac muscle cell action potential (GO:0086007)|voltage-gated calcium channel activity involved SA node cell action potential (GO:0086059)			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	AAACAAAACGAGAAGAAGAAGAT	0.468																																						ENST00000288139.3																			0				breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90						c.(5074-5079)cga>cg		calcium channel, voltage-dependent, L type, alpha 1D subunit	Verapamil(DB00661)																																			SO:0001651	inframe_deletion	776				axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr3:53834368_53834370delAGA	AB209171	CCDS2872.1, CCDS46848.1, CCDS46849.1	3p14.3	2012-03-07			ENSG00000157388	ENSG00000157388		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1391	protein-coding gene	gene with protein product		114206		CCHL1A2, CACNL1A2		1664412	Standard	NM_000720		Approved	Cav1.3, CACH3, CACN4	uc003dgu.5	Q01668	OTTHUMG00000158278	ENST00000350061.5:c.5016_5018delAGA	3.37:g.53834377_53834379delAGA	ENSP00000288133:p.Glu1675del					CACNA1D_ENST00000544977.1_In_Frame_Del_p.RE51del|CACNA1D_ENST00000350061.5_In_Frame_Del_p.RE1672del|CACNA1D_ENST00000422281.2_In_Frame_Del_p.RE1657del	p.RE1692del	NM_000720.2	NP_000711.1	Q01668	CAC1D_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	42	5194_5196	+			1672					B0FYA3|Q13916|Q13931|Q71UT1|Q9UDC3	In_Frame_Del	DEL	ENST00000350061.5	37	c.5076_5078delAGA	CCDS46848.1																																																																																				0.468	CACNA1D-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350557.1	NM_000720		34	118						34	118	---	---	---	---	-	53834370	AGA	-	53834368	7	5	305	1	0	1	0	1	0	0	0	0	2541	291	11	0	5350	0	CACNA1D	3	53834368	In_Frame_Del	DEL	AGA	TCGA-KK-A59V-01A-11D-A29Q-08	48472	53834368	144188062	220	14737											
FLNB	2317	broad.mit.edu	37	chr3	58108882	58108882	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aagcctgccgagttcaccatCgataccaaaggagctggtac	12	7	10	12	2	1	0	1	0	0	0	2	3	1	1	4	2	5	3	4	2	4	3			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr3:58108882C>T	ENST00000295956.4	+	21	3354	c.3189C>T	c.(3187-3189)atC>atT	p.I1063I	FLNB_ENST00000493452.1_Silent_p.I894I|FLNB_ENST00000419752.2_Silent_p.I894I|FLNB_ENST00000348383.5_Silent_p.I1063I|FLNB_ENST00000357272.4_Silent_p.I1063I|FLNB_ENST00000490882.1_Silent_p.I1063I|FLNB_ENST00000358537.3_Silent_p.I1063I|FLNB_ENST00000429972.2_Silent_p.I1063I	NM_001457.3	NP_001448.2	O75369	FLNB_HUMAN	filamin B, beta	1063					actin cytoskeleton organization (GO:0030036)|cell differentiation (GO:0030154)|cytokine-mediated signaling pathway (GO:0019221)|cytoskeletal anchoring at plasma membrane (GO:0007016)|signal transduction (GO:0007165)|skeletal muscle tissue development (GO:0007519)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	actin binding (GO:0003779)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		AGTTCACCATCGATACCAAAG	0.567																																						ENST00000357272.4																			0				NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120						c.(3187-3189)atC>atT		filamin B, beta							141	130	133					3																	58108882		2203	4300	6503	SO:0001819	synonymous_variant	2317				actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding	g.chr3:58108882C>T	AF043045	CCDS2885.1, CCDS54599.1, CCDS54600.1, CCDS54601.1	3p14.3	2011-02-11	2009-07-23		ENSG00000136068	ENSG00000136068			3755	protein-coding gene	gene with protein product	"actin binding protein 278"	603381	"filamin B, beta (actin binding protein 278)", "Larsen syndrome 1 (autosomal dominant)"	FLN1L, LRS1		8327473, 10449914, 14991055, 16801345	Standard	NM_001457		Approved	TAP, TABP, ABP-278, FH1	uc010hne.2	O75369	OTTHUMG00000159158	ENST00000295956.4:c.3189C>T	3.37:g.58108882C>T						FLNB_ENST00000419752.2_Silent_p.I894I|FLNB_ENST00000358537.3_Silent_p.I1063I|FLNB_ENST00000295956.4_Silent_p.I1063I|FLNB_ENST00000493452.1_Silent_p.I894I|FLNB_ENST00000490882.1_Silent_p.I1063I|FLNB_ENST00000429972.2_Silent_p.I1063I|FLNB_ENST00000348383.5_Silent_p.I1063I	p.I1063I			O75369	FLNB_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)	21	3354	+			1063					B2ZZ83|B2ZZ84|B2ZZ85|C9JKE6|C9JMC4|Q13706|Q59EC2|Q60FE7|Q6MZJ1|Q8WXS9|Q8WXT0|Q8WXT1|Q8WXT2|Q8WXT3|Q9NRB5|Q9NT26|Q9UEV9	Silent	SNP	ENST00000295956.4	37	c.3189C>T	CCDS2885.1																																																																																				0.567	FLNB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000353569.1	NM_001457		45	133	0	0	0	1	0	45	133					T	58108882	C	T	58108882	2	4	305	1	0	0	0	0	0	0	0	1	5934	874	31	2		2	FLNB	3	58108882	Silent	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	4274514	58108882	139913548	221	14738											
CADPS	8618	broad.mit.edu	37	chr3	62385086	62385086	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctaggaccaaatggtctaatCgtcttcttcgtcttcctcat	8	15	6	12	2	5	0	1	0	4	0	8	1	6	1	2	2	0	0	2	2	3	5			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr3:62385086C>T	ENST00000383710.4	-	30	4406	c.4057G>A	c.(4057-4059)Gat>Aat	p.D1353N	CADPS_ENST00000357948.3_Missense_Mutation_p.D1274N|CADPS_ENST00000283269.9_Missense_Mutation_p.D1314N	NM_003716.3	NP_003707.2	Q9ULU8	CAPS1_HUMAN	Ca++-dependent secretion activator	1353	Mediates targeting and association with DCVs. {ECO:0000250}.				catecholamine secretion (GO:0050432)|exocytosis (GO:0006887)|protein transport (GO:0015031)|synaptic vesicle priming (GO:0016082)|vesicle organization (GO:0016050)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|membrane (GO:0016020)|synapse (GO:0045202)	lipid binding (GO:0008289)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)			breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2)	92		Lung SC(41;0.0452)		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)		ATGGTCTAATCGTCTTCTTCG	0.488																																						ENST00000383710.4																			0				breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2)	92						c.(4057-4059)Gat>Aat		Ca++-dependent secretion activator							184	164	170					3																	62385086		2203	4300	6503	SO:0001583	missense	8618				exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|cytosol|synapse	lipid binding|metal ion binding	g.chr3:62385086C>T	U36448	CCDS2898.1, CCDS2899.1, CCDS46858.1	3p21.1	2013-01-10	2008-08-28		ENSG00000163618	ENSG00000163618		"Pleckstrin homology (PH) domain containing"	1426	protein-coding gene	gene with protein product		604667				1516133	Standard	NM_183393		Approved	CAPS, KIAA1121, CAPS1	uc003dll.2	Q9ULU8	OTTHUMG00000158651	ENST00000383710.4:c.4057G>A	3.37:g.62385086C>T	ENSP00000373215:p.Asp1353Asn					CADPS_ENST00000283269.9_Missense_Mutation_p.D1314N|CADPS_ENST00000357948.3_Missense_Mutation_p.D1274N	p.D1353N	NM_003716.3	NP_003707.2	Q9ULU8	CAPS1_HUMAN		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)	30	4406	-		Lung SC(41;0.0452)	1353			Mediates targeting and association with DCVs (By similarity).		A6NF60|Q13339|Q6GQQ6|Q8N2Z5|Q8N3M7|Q8NFR0|Q96BC2	Missense_Mutation	SNP	ENST00000383710.4	37	c.4057G>A	CCDS46858.1	.	.	.	.	.	.	.	.	.	.	C	15.66	2.899203	0.52227	.	.	ENSG00000163618	ENST00000383709;ENST00000383710;ENST00000357948;ENST00000283269	T;T;T	0.52526	0.66;0.7;0.69	5.86	5.86	0.93980	.	0.000000	0.85682	D	0.000000	T	0.36166	0.0957	N	0.11927	0.2	0.80722	D	1	P;P;P;B	0.47106	0.89;0.89;0.824;0.33	B;B;B;B	0.40901	0.343;0.343;0.186;0.084	T	0.38112	-0.9676	10	0.66056	D	0.02	.	20.2019	0.98263	0.0:1.0:0.0:0.0	.	1274;1314;1353;1358	Q9ULU8-2;Q9ULU8-3;Q9ULU8;Q9ULU8-4	.;.;CAPS1_HUMAN;.	N	1359;1353;1274;1314	ENSP00000373215:D1353N;ENSP00000350632:D1274N;ENSP00000283269:D1314N	ENSP00000283269:D1314N	D	-	1	0	CADPS	62360126	1.000000	0.71417	0.762000	0.31397	0.506000	0.33950	5.554000	0.67294	2.776000	0.95493	0.655000	0.94253	GAT		0.488	CADPS-013	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351951.5	NM_003716, NM_183393, NM_183394		30	74	0	0	0	1	0	30	74					T	62385086	C	T	62385086	3	4	305	1	0	0	0	0	1	0	0	0	2570	884	31	2	8	2	CADPS	3	62385086	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	4276204	62385086	135637344	222	14739											
CADPS	8618	broad.mit.edu	37	chr3	62451122	62451122	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cactccttccaagatagtaaCgaactagaaaaacagcaaaa	20	6	5	10	1	0	2	0	0	0	2	2	3	2	2	2	0	4	2	2	0	9	4	rs574220713		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr3:62451122C>T	ENST00000383710.4	-	26	3905	c.3556G>A	c.(3556-3558)Gtt>Att	p.V1186I	CADPS_ENST00000357948.3_Missense_Mutation_p.V1107I|CADPS_ENST00000283269.9_Missense_Mutation_p.V1147I|CADPS_ENST00000462768.1_5'UTR	NM_003716.3	NP_003707.2	Q9ULU8	CAPS1_HUMAN	Ca++-dependent secretion activator	1186	Mediates targeting and association with DCVs. {ECO:0000250}.				catecholamine secretion (GO:0050432)|exocytosis (GO:0006887)|protein transport (GO:0015031)|synaptic vesicle priming (GO:0016082)|vesicle organization (GO:0016050)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|membrane (GO:0016020)|synapse (GO:0045202)	lipid binding (GO:0008289)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)			breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2)	92		Lung SC(41;0.0452)		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)		AAGATAGTAACGAACTAGAAA	0.353																																						ENST00000383710.4																			0				breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2)	92						c.(3556-3558)Gtt>Att		Ca++-dependent secretion activator							96	104	101					3																	62451122		2203	4300	6503	SO:0001583	missense	8618				exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|cytosol|synapse	lipid binding|metal ion binding	g.chr3:62451122C>T	U36448	CCDS2898.1, CCDS2899.1, CCDS46858.1	3p21.1	2013-01-10	2008-08-28		ENSG00000163618	ENSG00000163618		"Pleckstrin homology (PH) domain containing"	1426	protein-coding gene	gene with protein product		604667				1516133	Standard	NM_183393		Approved	CAPS, KIAA1121, CAPS1	uc003dll.2	Q9ULU8	OTTHUMG00000158651	ENST00000383710.4:c.3556G>A	3.37:g.62451122C>T	ENSP00000373215:p.Val1186Ile					CADPS_ENST00000462768.1_5'UTR|CADPS_ENST00000283269.9_Missense_Mutation_p.V1147I|CADPS_ENST00000357948.3_Missense_Mutation_p.V1107I	p.V1186I	NM_003716.3	NP_003707.2	Q9ULU8	CAPS1_HUMAN		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)	26	3905	-		Lung SC(41;0.0452)	1186			Mediates targeting and association with DCVs (By similarity).		A6NF60|Q13339|Q6GQQ6|Q8N2Z5|Q8N3M7|Q8NFR0|Q96BC2	Missense_Mutation	SNP	ENST00000383710.4	37	c.3556G>A	CCDS46858.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.08|11.08	1.534597|1.534597	0.27475|0.27475	.|.	.|.	ENSG00000163618|ENSG00000163618	ENST00000466621|ENST00000383709;ENST00000383710;ENST00000357948;ENST00000283269	.|T;T;T	.|0.30981	.|1.51;1.51;1.51	5.98|5.98	4.21|4.21	0.49690|0.49690	.|.	.|0.183337	.|0.47455	.|N	.|0.000231	T|T	0.41511|0.41511	0.1162|0.1162	L|L	0.32530|0.32530	0.975|0.975	0.80722|0.80722	D|D	1|1	.|B;B;D;B	.|0.76494	.|0.083;0.006;0.999;0.147	.|B;B;D;B	.|0.71184	.|0.031;0.008;0.972;0.031	T|T	0.11690|0.11690	-1.0577|-1.0577	5|10	.|0.38643	.|T	.|0.18	.|.	12.4672|12.4672	0.55766|0.55766	0.0:0.8659:0.0:0.1341|0.0:0.8659:0.0:0.1341	.|.	.|1107;1147;1186;1191	.|Q9ULU8-2;Q9ULU8-3;Q9ULU8;Q9ULU8-4	.|.;.;CAPS1_HUMAN;.	H|I	97|1192;1186;1107;1147	.|ENSP00000373215:V1186I;ENSP00000350632:V1107I;ENSP00000283269:V1147I	.|ENSP00000283269:V1147I	R|V	-|-	2|1	0|0	CADPS|CADPS	62426162|62426162	1.000000|1.000000	0.71417|0.71417	0.977000|0.977000	0.42913|0.42913	0.970000|0.970000	0.65996|0.65996	4.697000|4.697000	0.61782|0.61782	0.879000|0.879000	0.35944|0.35944	-0.218000|-0.218000	0.12543|0.12543	CGT|GTT		0.353	CADPS-013	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351951.5	NM_003716, NM_183393, NM_183394		32	77	0	0	0	1	0	32	77					T	62451122	C	T	62451122	3	4	305	1	0	0	0	0	1	0	0	0	2570	536	19	1	525	1	CADPS	3	62451122	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	66036	62451122	135571308	223	14740											
COL8A1	1295	broad.mit.edu	37	chr3	99514755	99514755	+	Frame_Shift_Del	DEL	G	G	-																															gcataccacgttcactgcaaGgggggcaacgtgtgggttgc																										TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr3:99514755delG	ENST00000261037.3	+	5	2390	c.2010delG	c.(2008-2010)aagfs	p.K670fs	COL8A1_ENST00000273342.4_Frame_Shift_Del_p.K670fs	NM_001850.4	NP_001841.2	P27658	CO8A1_HUMAN	collagen, type VIII, alpha 1	670	C1q. {ECO:0000255|PROSITE- ProRule:PRU00368}.|Nonhelical region (NC1).				angiogenesis (GO:0001525)|camera-type eye morphogenesis (GO:0048593)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|epithelial cell proliferation (GO:0050673)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	collagen type VIII trimer (GO:0005591)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(15)|skin(5)|upper_aerodigestive_tract(1)	27						TTCACTGCAAGGGGGGCAACG	0.527																																						ENST00000261037.3																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(15)|skin(5)|upper_aerodigestive_tract(1)	27						c.(2008-2010)aafs		collagen, type VIII, alpha 1							94	90	91					3																	99514755		2203	4300	6503	SO:0001589	frameshift_variant	1295				angiogenesis|cell adhesion	basement membrane|collagen type VIII		g.chr3:99514755delG	AF170702	CCDS2934.1	3q11.1-q13.2	2013-01-16			ENSG00000144810	ENSG00000144810		"Collagens"	2215	protein-coding gene	gene with protein product		120251	"chromosome 3 open reading frame 7"	C3orf7		2029894	Standard	NM_001850		Approved	MGC9568	uc003dth.2	P27658	OTTHUMG00000148669	ENST00000261037.3:c.2010delG	3.37:g.99514755delG	ENSP00000261037:p.Lys670fs					COL8A1_ENST00000273342.4_Frame_Shift_Del_p.K670fs	p.K670fs	NM_001850.4	NP_001841.2	P27658	CO8A1_HUMAN			5	2390	+			670			C1q.|Nonhelical region (NC1).		D3DN42|Q53XI6|Q96D07	Frame_Shift_Del	DEL	ENST00000261037.3	37	c.2010delG	CCDS2934.1																																																																																				0.527	COL8A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309001.1	NM_001850		15	81						15	81	---	---	---	---	-	99514755	G	-	99514755	7	5	305	1	0	1	0	1	0	0	0	0	3705	991	35	0	2016	0	COL8A1	3	99514755	Frame_Shift_Del	DEL	G	TCGA-KK-A59V-01A-11D-A29Q-08	37063633	99514755	98507675	224	14741											
FILIP1L	11259	broad.mit.edu	37	chr3	99569644	99569644	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtctgcgtttgcagttccttCtctagtctggttgccttctg	2	18	10	11	1	4	0	0	0	4	0	6	0	5	0	2	1	3	4	2	1	1	6			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr3:99569644C>A	ENST00000354552.3	-	5	1346	c.876G>T	c.(874-876)gaG>gaT	p.E292D	FILIP1L_ENST00000487087.1_Intron|FILIP1L_ENST00000383694.2_Missense_Mutation_p.E52D|FILIP1L_ENST00000331335.5_Missense_Mutation_p.E292D|CMSS1_ENST00000421999.2_Intron|CMSS1_ENST00000496116.1_Intron|FILIP1L_ENST00000476723.1_Intron|FILIP1L_ENST00000471562.1_Missense_Mutation_p.E52D	NM_182909.2	NP_878913.2	Q4L180	FIL1L_HUMAN	filamin A interacting protein 1-like	292						cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	35						GCAGTTCCTTCTCTAGTCTGG	0.463																																						ENST00000331335.5																			0				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	35						c.(874-876)gaG>gaT		filamin A interacting protein 1-like							299	290	293					3																	99569644		1981	4156	6137	SO:0001583	missense	11259					cytoplasm|membrane|myosin complex|nucleus		g.chr3:99569644C>A		CCDS43117.1, CCDS43118.1, CCDS43119.1, CCDS63700.1, CCDS74969.1	3q12.1	2011-10-21			ENSG00000168386	ENSG00000168386			24589	protein-coding gene	gene with protein product	"downregulated in ovarian cancer 1", "GPBP-interacting protein of 130 kDa"	612993				8314147, 15935955, 21832087	Standard	NM_001282793		Approved	DOC-1, GIP130	uc003dtm.3	Q4L180	OTTHUMG00000159055	ENST00000354552.3:c.876G>T	3.37:g.99569644C>A	ENSP00000346560:p.Glu292Asp					FILIP1L_ENST00000354552.3_Missense_Mutation_p.E292D|FILIP1L_ENST00000487087.1_Intron|FILIP1L_ENST00000383694.2_Missense_Mutation_p.E52D|FILIP1L_ENST00000476723.1_Intron|CMSS1_ENST00000496116.1_Intron|CMSS1_ENST00000421999.2_Intron|FILIP1L_ENST00000471562.1_Missense_Mutation_p.E52D	p.E292D	NM_001042459.1	NP_001035924.1	Q4L180	FIL1L_HUMAN			5	1346	-			292					B2CNV7|B2CNV8|Q13597|Q2YDY5|Q6KFX5|Q6KFX6|Q6KFX7|Q8IUM3|Q8N6Z0	Missense_Mutation	SNP	ENST00000354552.3	37	c.876G>T	CCDS43117.1	.	.	.	.	.	.	.	.	.	.	C	16.99	3.274515	0.59649	.	.	ENSG00000168386	ENST00000354552;ENST00000471562;ENST00000331335;ENST00000383694;ENST00000441620;ENST00000495625	T;T;T;T;T	0.46063	0.88;0.9;0.89;0.9;0.94	5.74	1.32	0.21799	.	0.116909	0.37715	N	0.001975	T	0.49864	0.1582	M	0.76328	2.33	0.36820	D	0.88633	P;P	0.44521	0.837;0.748	P;B	0.48982	0.597;0.393	T	0.59783	-0.7389	10	0.52906	T	0.07	-7.7607	11.3449	0.49554	0.0:0.6419:0.0:0.3581	.	292;292	Q4L180-2;Q4L180	.;FIL1L_HUMAN	D	292;52;292;52;52;52	ENSP00000346560:E292D;ENSP00000419642:E52D;ENSP00000327880:E292D;ENSP00000373192:E52D;ENSP00000419874:E52D	ENSP00000327880:E292D	E	-	3	2	FILIP1L	101052334	0.998000	0.40836	0.994000	0.49952	0.995000	0.86356	1.092000	0.30927	0.330000	0.23485	-0.140000	0.14226	GAG		0.463	FILIP1L-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000353069.1	NM_014890		98	265	1	0	1.77424e-55	1	1.87108e-55	98	265					A	99569644	C	A	99569644	3	1	305	1	0	0	0	0	1	0	0	0	5895	912	32	5	2560	5	FILIP1L	3	99569644	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	54889	99569644	98452786	225	14742											
DZIP3	9666	broad.mit.edu	37	chr3	108391473	108391473	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acatacgtaagcaaactgaaCgcagaaactagcagagcttt	17	7	8	9	2	0	3	0	1	0	2	0	3	0	3	0	0	7	5	0	0	6	4	rs371315606		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr3:108391473C>T	ENST00000361582.3	+	23	2789	c.2559C>T	c.(2557-2559)aaC>aaT	p.N853N	DZIP3_ENST00000463306.1_Silent_p.N853N	NM_014648.3	NP_055463.1	Q86Y13	DZIP3_HUMAN	DAZ interacting zinc finger protein 3	853					protein polyubiquitination (GO:0000209)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|phosphatase binding (GO:0019902)|poly(A) RNA binding (GO:0044822)|polyubiquitin binding (GO:0031593)|RNA binding (GO:0003723)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(21)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	45						GCAAACTGAACGCAGAAACTA	0.393													C|||	1	0.000199681	8e-04	0	5008	,	,		13938	0		0	False		,,,				2504	0					ENST00000361582.3																			0				breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(21)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	45						c.(2557-2559)aaC>aaT		DAZ interacting zinc finger protein 3		C		1,4405	2.1+/-5.4	0,1,2202	97	91	93		2559	-0.8	1	3		93	0,8598		0,0,4299	no	coding-synonymous	DZIP3	NM_014648.3		0,1,6501	TT,TC,CC		0.0,0.0227,0.0077		853/1209	108391473	1,13003	2203	4299	6502	SO:0001819	synonymous_variant	9666				protein polyubiquitination	cytoplasm	polyubiquitin binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr3:108391473C>T	AF279370	CCDS2952.1	3q13.13	2013-05-22	2013-05-22		ENSG00000198919	ENSG00000198919		"RING-type (C3HC4) zinc fingers", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	30938	protein-coding gene	gene with protein product	"human RNA-binding ubiquitin ligase of 138 kDa", "protein phosphatase 1, regulatory subunit 66"	608672	"DAZ interacting protein 3, zinc finger"			9734811, 12538761	Standard	NM_014648		Approved	hRUL138, PPP1R66	uc003dxd.3	Q86Y13	OTTHUMG00000159232	ENST00000361582.3:c.2559C>T	3.37:g.108391473C>T						DZIP3_ENST00000463306.1_Silent_p.N853N	p.N853N	NM_014648.3	NP_055463.1	Q86Y13	DZIP3_HUMAN			23	2789	+			853					B3KN01|O75162|Q6P3R9|Q6PH82|Q86Y14|Q86Y15|Q86Y16|Q8IWI0|Q96RS9	Silent	SNP	ENST00000361582.3	37	c.2559C>T	CCDS2952.1																																																																																				0.393	DZIP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353968.1	NM_014648		31	54	0	0	0	1	0	31	54					T	108391473	C	T	108391473	2	4	305	1	0	0	0	0	0	0	0	1	4865	535	19	1		1	DZIP3	3	108391473	Silent	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	8821829	108391473	89630957	226	14743											
PLCXD2	257068	broad.mit.edu	37	chr3	111426772	111426772	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cacctgtattcctttgtacaGgctcacatgattcattcagc	9	14	6	12	0	3	1	3	1	0	0	4	1	4	1	2	1	2	3	2	1	2	6			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr3:111426772G>T	ENST00000477665.1	+	2	487		c.e2-1		PLCXD2_ENST00000393934.3_Splice_Site	NM_001185106.1	NP_001172035.1	Q0VAA5	PLCX2_HUMAN	phosphatidylinositol-specific phospholipase C, X domain containing 2						lipid catabolic process (GO:0016042)		phosphoric diester hydrolase activity (GO:0008081)|signal transducer activity (GO:0004871)			endometrium(1)|large_intestine(5)|lung(9)|prostate(1)|skin(1)	17						CCTTTGTACAGGCTCACATGA	0.453																																						ENST00000393934.3																			0				endometrium(1)|large_intestine(5)|lung(9)|prostate(1)|skin(1)	17						c.e2-1		phosphatidylinositol-specific phospholipase C, X domain containing 2							30	33	32					3																	111426772		2203	4300	6503	SO:0001630	splice_region_variant	257068				intracellular signal transduction|lipid catabolic process		phospholipase C activity|signal transducer activity	g.chr3:111426772G>T	AK056141	CCDS2961.1, CCDS54619.1	3q13.2	2004-09-09			ENSG00000240891	ENSG00000240891			26462	protein-coding gene	gene with protein product							Standard	NM_001185106		Approved	FLJ31579	uc003dxz.3	Q0VAA5	OTTHUMG00000159279	ENST00000477665.1:c.164-1G>T	3.37:g.111426772G>T						PLCXD2_ENST00000477665.1_Splice_Site		NM_153268.3	NP_695000.1	Q0VAA5	PLCX2_HUMAN			2	733	+								Q96N12	Splice_Site	SNP	ENST00000477665.1	37		CCDS54619.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.140157	0.77775	.	.	ENSG00000240891	ENST00000393934;ENST00000477665	.	.	.	5.77	5.77	0.91146	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.8364	0.88699	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PLCXD2	112909462	1.000000	0.71417	0.998000	0.56505	0.895000	0.52256	9.420000	0.97426	2.884000	0.98904	0.655000	0.94253	.		0.453	PLCXD2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000354322.1	NM_153268	Intron	3	16	1	0	1	1	1	3	16					T	111426772	G	T	111426772	5	4	305	1	0	0	0	0	0	0	1	0	12042	1014	35	5	169	5	PLCXD2	3	111426772	Splice_Site	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	3035299	111426772	86595658	227	14744											
SLC9A10	285335	broad.mit.edu	37	chr3	111927206	111927206	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atactattgtatggcatataCgaaaaaagaagtatctgtaa	18	12	7	4	1	1	1	0	0	1	1	1	2	1	1	0	1	2	4	0	1	11	8	rs142600000	byFrequency	TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr3:111927206C>T	ENST00000305815.5	-	16	2057	c.1805G>A	c.(1804-1806)cGt>cAt	p.R602H	SLC9C1_ENST00000487372.1_Missense_Mutation_p.R554H	NM_183061.1	NP_898884.1	Q4G0N8	SL9C1_HUMAN	solute carrier family 9, subfamily C (Na+-transporting carboxylic acid decarboxylase), member 1	602	Ion transport-like.				cell differentiation (GO:0030154)|ion transmembrane transport (GO:0034220)|multicellular organismal development (GO:0007275)|sodium ion transport (GO:0006814)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|motile cilium (GO:0031514)|plasma membrane (GO:0005886)	solute:proton antiporter activity (GO:0015299)	p.R602H(1)									ATGGCATATACGAAAAAAGAA	0.274													C|||	2	0.000399361	0.0015	0	5008	,	,		19107	0		0	False		,,,				2504	0					ENST00000305815.5																			1	Substitution - Missense(1)	p.R602H(1)	lung(1)								c.(1804-1806)cGt>cAt		solute carrier family 9, subfamily C (Na+-transporting carboxylic acid decarboxylase), member 1		C	HIS/ARG	5,4369	9.9+/-24.2	0,5,2182	58	68	65		1805	-6.3	0	3	dbSNP_134	65	2,8560	2.2+/-6.3	0,2,4279	yes	missense	SLC9A10	NM_183061.1	29	0,7,6461	TT,TC,CC		0.0234,0.1143,0.0541	benign	602/1178	111927206	7,12929	2187	4281	6468	SO:0001583	missense	285335				cell differentiation|multicellular organismal development|sodium ion transport|spermatogenesis	cilium|flagellar membrane|integral to membrane	solute:hydrogen antiporter activity	g.chr3:111927206C>T	AK128084	CCDS33817.1	3q13	2013-05-22	2012-03-22	2012-03-22	ENSG00000172139	ENSG00000172139		"Solute carriers"	31401	protein-coding gene	gene with protein product	"sperm-NHE"	612738	"solute carrier family 9, isoform 10", "solute carrier family 9, member 10"	SLC9A10		12783626	Standard	NM_183061		Approved	NHE	uc003dyu.3	Q4G0N8	OTTHUMG00000159245	ENST00000305815.5:c.1805G>A	3.37:g.111927206C>T	ENSP00000306627:p.Arg602His					SLC9C1_ENST00000487372.1_Missense_Mutation_p.R554H	p.R602H	NM_183061.1	NP_898884.1	Q4G0N8	S9A10_HUMAN			16	2057	-			602			Ion transport-like.		Q6ZRP4|Q7RTP2	Missense_Mutation	SNP	ENST00000305815.5	37	c.1805G>A	CCDS33817.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	2.573	-0.299273	0.05532	0.001143	2.34E-4	ENSG00000172139	ENST00000305815;ENST00000487372	T;T	0.79749	-1.3;-1.3	5.72	-6.3	0.02007	.	1.744570	0.02673	N	0.108746	T	0.60894	0.2304	N	0.12746	0.255	0.09310	N	1	B;B	0.11235	0.004;0.002	B;B	0.06405	0.002;0.001	T	0.49163	-0.8968	10	0.35671	T	0.21	-12.0552	5.5219	0.16938	0.2422:0.29:0.0:0.4678	.	554;602	Q4G0N8-2;Q4G0N8	.;S9A10_HUMAN	H	602;554	ENSP00000306627:R602H;ENSP00000420688:R554H	ENSP00000306627:R602H	R	-	2	0	SLC9A10	113409896	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.622000	0.00877	-0.953000	0.03645	-2.072000	0.00384	CGT		0.274	SLC9C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354066.1	NM_183061		5	68	0	0	0	1	0	5	68					T	111927206	C	T	111927206	3	4	305	1	0	0	0	0	1	0	0	0	14710	536	19	1	1784	1	SLC9A10	3	111927206	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	500434	111927206	86095224	228	14745											
CCDC52	152185	broad.mit.edu	37	chr3	113184565	113184565	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cagagcatcaatgagctctcGatgatcacctaatacttgtt	12	12	7	10	1	3	3	2	2	1	1	4	4	3	3	1	0	3	3	1	0	3	4			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr3:113184565G>A	ENST00000295872.4	-	11	1481	c.1222C>T	c.(1222-1224)Cga>Tga	p.R408*		NM_144718.3	NP_653319.1	Q8N0Z3	SPICE_HUMAN	spindle and centriole associated protein 1	408					metaphase plate congression (GO:0051310)|regulation of centriole replication (GO:0046599)|spindle assembly involved in mitosis (GO:0090307)	centriole (GO:0005814)|centrosome (GO:0005813)|spindle (GO:0005819)				NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(3)|large_intestine(9)|lung(10)|ovary(2)|skin(2)|urinary_tract(1)	33						ATGAGCTCTCGATGATCACCT	0.388																																						ENST00000295872.4																			0				NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(3)|large_intestine(9)|lung(10)|ovary(2)|skin(2)|urinary_tract(1)	33						c.(1222-1224)Cga>Tga		spindle and centriole associated protein 1							164	151	155					3																	113184565		2203	4300	6503	SO:0001587	stop_gained	152185				cell division|mitosis	centriole|spindle	protein binding	g.chr3:113184565G>A	AY099107	CCDS2973.1	3q13.2	2010-09-01	2010-09-01	2010-09-01	ENSG00000163611	ENSG00000163611			25083	protein-coding gene	gene with protein product	"spindle and centriole protein"	613447	"coiled-coil domain containing 52"	CCDC52		20736305	Standard	NM_144718		Approved	SPICE	uc003eag.4	Q8N0Z3	OTTHUMG00000159261	ENST00000295872.4:c.1222C>T	3.37:g.113184565G>A	ENSP00000295872:p.Arg408*						p.R408*	NM_144718.3	NP_653319.1	Q8N0Z3	SPICE_HUMAN			11	1481	-			408					D3DN72|Q8WUX6	Nonsense_Mutation	SNP	ENST00000295872.4	37	c.1222C>T	CCDS2973.1	.	.	.	.	.	.	.	.	.	.	G	39	7.815484	0.98504	.	.	ENSG00000163611	ENST00000295872	.	.	.	5.1	5.1	0.69264	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-11.3291	11.5321	0.50616	0.0:0.0:0.6984:0.3016	.	.	.	.	X	408	.	ENSP00000295872:R408X	R	-	1	2	SPICE1	114667255	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	2.549000	0.45803	2.639000	0.89480	0.650000	0.86243	CGA		0.388	SPICE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354177.2	NM_144718		18	54	0	0	0	1	0	18	54					A	113184565	G	A	113184565	4	1	305	1	0	0	0	0	0	1	0	0	2822	1066	37	2	1377	2	CCDC52	3	113184565	Nonsense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	1257359	113184565	84837865	229	14746											
GPR156	165829	broad.mit.edu	37	chr3	119900063	119900063	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaggttgggccaggaatgcAagtatctggtgactacaaaa	13	8	12	8	0	1	1	0	1	1	0	1	2	1	2	2	4	2	3	2	4	6	3			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr3:119900063A>G	ENST00000464295.1	-	8	1287	c.842T>C	c.(841-843)tTg>tCg	p.L281S	GPR156_ENST00000315843.3_Missense_Mutation_p.L281S|GPR156_ENST00000461057.1_Missense_Mutation_p.L277S			Q8NFN8	GP156_HUMAN	G protein-coupled receptor 156	281						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled GABA receptor activity (GO:0004965)			breast(2)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|prostate(1)|skin(1)	32				GBM - Glioblastoma multiforme(114;0.19)		CCAGGAATGCAAGTATCTGGT	0.488																																						ENST00000464295.1																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|prostate(1)|skin(1)	32						c.(841-843)tTg>tCg		G protein-coupled receptor 156							87	83	84					3																	119900063		2203	4300	6503	SO:0001583	missense	165829					integral to membrane|plasma membrane	G-protein coupled receptor activity|GABA-B receptor activity	g.chr3:119900063A>G	AF488739	CCDS2997.1, CCDS54629.1	3q13.33	2012-08-21			ENSG00000175697	ENSG00000175697		"GPCR / Class C : Orphans"	20844	protein-coding gene	gene with protein product		610464				12591167	Standard	NM_153002		Approved	PGR28, GABABL	uc011bjf.2	Q8NFN8	OTTHUMG00000159406	ENST00000464295.1:c.842T>C	3.37:g.119900063A>G	ENSP00000417261:p.Leu281Ser					GPR156_ENST00000461057.1_Missense_Mutation_p.L277S|GPR156_ENST00000315843.3_Missense_Mutation_p.L281S	p.L281S			Q8NFN8	GP156_HUMAN		GBM - Glioblastoma multiforme(114;0.19)	8	1287	-			281					B7ZL66|E9PFZ4|Q14CM1|Q86SN6	Missense_Mutation	SNP	ENST00000464295.1	37	c.842T>C	CCDS2997.1	.	.	.	.	.	.	.	.	.	.	A	24.8	4.569924	0.86542	.	.	ENSG00000175697	ENST00000464295;ENST00000315843;ENST00000461057	D;D;D	0.90004	-2.6;-2.6;-2.6	6.08	6.08	0.98989	GPCR, family 3, C-terminal (2);	0.093841	0.45361	D	0.000368	D	0.93236	0.7845	M	0.62088	1.915	0.47037	D	0.999294	D;D	0.89917	1.0;1.0	D;D	0.76071	0.987;0.987	D	0.92704	0.6177	9	.	.	.	-9.7559	15.825	0.78698	1.0:0.0:0.0:0.0	.	277;281	E9PFZ4;Q8NFN8	.;GP156_HUMAN	S	281;281;277	ENSP00000417261:L281S;ENSP00000324553:L281S;ENSP00000418758:L277S	.	L	-	2	0	GPR156	121382753	1.000000	0.71417	0.994000	0.49952	0.991000	0.79684	6.835000	0.75344	2.333000	0.79357	0.533000	0.62120	TTG		0.488	GPR156-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000355139.1	NM_153002		9	107	0	0	0	1	0	9	107					G	119900063	A	G	119900063	3	3	305	1	0	0	0	0	1	0	0	0	6661	131	5	4	1614	4	GPR156	3	119900063	Missense_Mutation	SNP	A	TCGA-KK-A59V-01A-11D-A29Q-08	6715498	119900063	78122367	230	14747											
POLQ	10721	broad.mit.edu	37	chr3	121251942	121251942	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agcggtacagggcgaaagtcGgtatggtagagttcagcatt	11	9	15	6	3	1	1	1	0	0	1	2	2	1	1	0	4	3	5	0	4	4	5	rs556803867	byFrequency	TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr3:121251942G>A	ENST00000264233.5	-	6	983	c.855C>T	c.(853-855)acC>acT	p.T285T	POLQ_ENST00000488282.1_5'UTR	NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN	polymerase (DNA directed), theta	285	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)	nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|damaged DNA binding (GO:0003684)|DNA-directed DNA polymerase activity (GO:0003887)|single-stranded DNA-dependent ATPase activity (GO:0043142)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		GGCGAAAGTCGGTATGGTAGA	0.448								DNA polymerases (catalytic subunits)					G|||	8	0.00159744	0	0	5008	,	,		16427	0		0	False		,,,				2504	0.0082				Pancreas(152;907 1925 26081 31236 36904)	ENST00000264233.5																			0				NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120						c.(853-855)acC>acT	DNA polymerases (catalytic subunits)	polymerase (DNA directed), theta							106	102	104					3																	121251942		2203	4300	6503	SO:0001819	synonymous_variant	10721				DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity	g.chr3:121251942G>A	AF052573	CCDS33833.1	3q13.3	2012-05-18			ENSG00000051341	ENSG00000051341	2.7.7.7	"DNA polymerases"	9186	protein-coding gene	gene with protein product		604419				10395804	Standard	NM_199420		Approved	POLH	uc003eee.4	O75417	OTTHUMG00000159396	ENST00000264233.5:c.855C>T	3.37:g.121251942G>A						POLQ_ENST00000488282.1_5'UTR	p.T285T	NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN		GBM - Glioblastoma multiforme(114;0.0915)	6	983	-			285			Helicase ATP-binding.		O95160|Q6VMB5	Silent	SNP	ENST00000264233.5	37	c.855C>T	CCDS33833.1																																																																																				0.448	POLQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355097.1	NM_199420		19	70	0	0	0	1	0	19	70					A	121251942	G	A	121251942	2	1	305	1	0	0	0	0	0	0	0	1	12208	1103	39	2		2	POLQ	3	121251942	Silent	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	1351879	121251942	76770488	231	14748											
CASR	846	broad.mit.edu	37	chr3	122002728	122002728	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agttccgcaacacacccattGtcaaggccaccaaccgagag	13	5	8	15	2	1	1	1	0	0	1	2	2	2	1	5	1	2	2	5	1	3	2			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr3:122002728G>A	ENST00000490131.1	+	7	2299	c.1927G>A	c.(1927-1929)Gtc>Atc	p.V643I	AC068754.1_ENST00000408547.1_RNA|CASR_ENST00000296154.5_Missense_Mutation_p.V643I|CASR_ENST00000498619.1_Missense_Mutation_p.V653I	NM_000388.3	NP_000379	P41180	CASR_HUMAN	calcium-sensing receptor	643					anatomical structure morphogenesis (GO:0009653)|calcium ion import (GO:0070509)|cellular calcium ion homeostasis (GO:0006874)|chemosensory behavior (GO:0007635)|detection of calcium ion (GO:0005513)|G-protein coupled receptor signaling pathway (GO:0007186)|metabolic process (GO:0008152)|ossification (GO:0001503)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|phosphatidylinositol phospholipase C activity (GO:0004435)			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	CACACCCATTGTCAAGGCCAC	0.577																																						ENST00000498619.1																			0				NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84						c.(1957-1959)Gtc>Atc		calcium-sensing receptor	Cinacalcet(DB01012)						171	120	137					3																	122002728		2203	4300	6503	SO:0001583	missense	846				anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity	g.chr3:122002728G>A	U20760	CCDS3010.1, CCDS54632.1	3q21.1	2012-08-29	2008-08-01		ENSG00000036828	ENSG00000036828		"GPCR / Class C : Calcium-sensing receptors"	1514	protein-coding gene	gene with protein product	"severe neonatal hyperparathyroidism"	601199	"hypocalciuric hypercalcemia 1"	HHC, HHC1		7677761	Standard	NM_000388		Approved	FHH, NSHPT, GPRC2A	uc003eew.4	P41180	OTTHUMG00000159491	ENST00000490131.1:c.1927G>A	3.37:g.122002728G>A	ENSP00000418685:p.Val643Ile					CASR_ENST00000296154.5_Missense_Mutation_p.V643I|CASR_ENST00000490131.1_Missense_Mutation_p.V643I	p.V653I	NM_001178065.1	NP_001171536.1	P41180	CASR_HUMAN		GBM - Glioblastoma multiforme(114;0.226)	7	2395	+			643					Q13912|Q16108|Q16109|Q16110|Q16379|Q2M1T0|Q4PJ19	Missense_Mutation	SNP	ENST00000490131.1	37	c.1957G>A	CCDS3010.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.377510	0.82682	.	.	ENSG00000036828	ENST00000490131;ENST00000498619;ENST00000296154	D;D;D	0.90900	-2.75;-2.75;-2.75	5.91	5.91	0.95273	GPCR, family 3, C-terminal (2);	0.000000	0.85682	D	0.000000	D	0.96241	0.8774	M	0.88512	2.96	0.80722	D	1	D;D	0.71674	0.998;0.997	D;D	0.80764	0.994;0.994	D	0.96194	0.9140	10	0.66056	D	0.02	.	19.2828	0.94058	0.0:0.0:1.0:0.0	.	653;643	E7ENE0;P41180	.;CASR_HUMAN	I	643;653;643	ENSP00000418685:V643I;ENSP00000420194:V653I;ENSP00000296154:V643I	ENSP00000296154:V643I	V	+	1	0	CASR	123485418	1.000000	0.71417	0.986000	0.45419	0.925000	0.55904	9.869000	0.99810	2.804000	0.96469	0.462000	0.41574	GTC		0.577	CASR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355761.1	NM_000388		21	69	0	0	0	1	0	21	69					A	122002728	G	A	122002728	3	1	305	1	0	0	0	0	1	0	0	0	2682	1377	48	3	1979	3	CASR	3	122002728	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	750786	122002728	76019702	232	14749											
PDIA5	10954	broad.mit.edu	37	chr3	122811251	122811251	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgtccacagtggcccaggcGgtgaaaggacaagggaccat	11	5	14	11	1	0	1	0	1	0	0	1	3	1	3	3	5	0	0	3	5	2	0	rs139086659	byFrequency	TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr3:122811251G>A	ENST00000316218.7	+	3	314	c.219G>A	c.(217-219)gcG>gcA	p.A73A		NM_006810.3	NP_006801.1	Q14554	PDIA5_HUMAN	protein disulfide isomerase family A, member 5	73					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cell redox homeostasis (GO:0045454)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|oxidation-reduction process (GO:0055114)|protein folding (GO:0006457)|response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)	oxidoreductase activity (GO:0016491)|protein disulfide isomerase activity (GO:0003756)			breast(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	21				GBM - Glioblastoma multiforme(114;0.0427)		TGGCCCAGGCGGTGAAAGGAC	0.527																																						ENST00000316218.7																			0				breast(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	21						c.(217-219)gcG>gcA		protein disulfide isomerase family A, member 5		G		2,4404	4.2+/-10.8	0,2,2201	120	111	114		219	0.8	1	3	dbSNP_134	114	4,8596	3.7+/-12.6	0,4,4296	no	coding-synonymous	PDIA5	NM_006810.3		0,6,6497	AA,AG,GG		0.0465,0.0454,0.0461		73/520	122811251	6,13000	2203	4300	6503	SO:0001819	synonymous_variant	10954				cell redox homeostasis|glycerol ether metabolic process|protein folding|response to stress	endoplasmic reticulum lumen	electron carrier activity|protein disulfide isomerase activity|protein disulfide oxidoreductase activity	g.chr3:122811251G>A	AK054963	CCDS3020.1	3q21.1	2009-11-20	2005-06-29		ENSG00000065485	ENSG00000065485	5.3.4.1	"Protein disulfide isomerases"	24811	protein-coding gene	gene with protein product			"protein disulfide isomerase-associated 5"			7556671	Standard	NM_006810		Approved	PDIR, FLJ30401	uc003egc.2	Q14554	OTTHUMG00000159558	ENST00000316218.7:c.219G>A	3.37:g.122811251G>A							p.A73A	NM_006810.3	NP_006801.1	Q14554	PDIA5_HUMAN		GBM - Glioblastoma multiforme(114;0.0427)	3	314	+			73					D3DN95|Q9BV43	Silent	SNP	ENST00000316218.7	37	c.219G>A	CCDS3020.1																																																																																				0.527	PDIA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356192.1	NM_006810		27	56	0	0	0	1	0	27	56					A	122811251	G	A	122811251	2	1	305	1	0	0	0	0	0	0	0	1	11671	1103	39	2		2	PDIA5	3	122811251	Silent	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	808523	122811251	75211179	233	14750											
MYLK	4638	broad.mit.edu	37	chr3	123419105	123419105	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagttcacatcattcttaacGtctttcttgagttcttcttt	7	20	4	10	1	7	1	2	1	5	0	7	1	7	1	0	0	1	2	0	0	1	8	rs200758888		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr3:123419105G>A	ENST00000475616.1	-	15	3209	c.3210C>T	c.(3208-3210)gaC>gaT	p.D1070D	MYLK_ENST00000360772.3_Silent_p.D1070D|MYLK_ENST00000510775.1_5'Flank|MYLK_ENST00000359169.1_Silent_p.D1070D|MYLK_ENST00000360304.3_Silent_p.D1070D|MYLK_ENST00000346322.5_Silent_p.D1001D			Q15746	MYLK_HUMAN	myosin light chain kinase	1070	Actin-binding (calcium/calmodulin- insensitive). {ECO:0000250}.				actin filament organization (GO:0007015)|aorta smooth muscle tissue morphogenesis (GO:0060414)|bleb assembly (GO:0032060)|cellular hypotonic response (GO:0071476)|muscle contraction (GO:0006936)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cell migration (GO:0030335)|positive regulation of wound healing (GO:0090303)|protein phosphorylation (GO:0006468)|smooth muscle contraction (GO:0006939)|tonic smooth muscle contraction (GO:0014820)	cell-cell junction (GO:0005911)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|metal ion binding (GO:0046872)|myosin light chain kinase activity (GO:0004687)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		CATTCTTAACGTCTTTCTTGA	0.522																																						ENST00000360772.3																			0				NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113						c.(3208-3210)gaC>gaT		myosin light chain kinase		G	,,,	0,4406		0,0,2203	259	260	259		3210,3003,3210,3003	-5.4	0.9	3		259	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	MYLK	NM_053025.3,NM_053026.3,NM_053027.3,NM_053028.3	,,,	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	,,,	1070/1915,1001/1846,1070/1864,1001/1795	123419105	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	4638				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity	g.chr3:123419105G>A	X85337	CCDS3023.1, CCDS43141.1, CCDS46896.1, CCDS46897.1, CCDS58849.1	3q21	2013-02-11	2008-01-23		ENSG00000065534	ENSG00000065534	2.7.11.18	"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	7590	protein-coding gene	gene with protein product	"smooth muscle myosin light chain kinase"	600922	"myosin, light polypeptide kinase"			8575746	Standard	NM_053026		Approved	MLCK, smMLCK, MYLK1, MLCK1	uc003ego.3	Q15746	OTTHUMG00000141304	ENST00000475616.1:c.3210C>T	3.37:g.123419105G>A						MYLK_ENST00000346322.5_Silent_p.D1001D|MYLK_ENST00000360304.3_Silent_p.D1070D|MYLK_ENST00000359169.1_Silent_p.D1070D|MYLK_ENST00000475616.1_Silent_p.D1070D	p.D1070D			Q15746	MYLK_HUMAN		GBM - Glioblastoma multiforme(114;0.0736)	19	3588	-		Lung NSC(201;0.0496)	1070			Actin-binding (calcium/calmodulin- insensitive) (By similarity).		B4DUE3|D3DN97|O95796|O95797|O95798|O95799|Q14844|Q16794|Q17S15|Q3ZCP9|Q5MY99|Q5MYA0|Q6P2N0|Q7Z4J0|Q9C0L5|Q9UBG5|Q9UBY6|Q9UIT9	Silent	SNP	ENST00000475616.1	37	c.3210C>T	CCDS46896.1																																																																																				0.522	MYLK-004	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356464.1	NM_053025		90	240	0	0	0	1	0	90	240					A	123419105	G	A	123419105	2	1	305	1	0	0	0	0	0	0	0	1	10056	1136	40	1		1	MYLK	3	123419105	Silent	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	607854	123419105	74603325	234	14751											
KALRN	8997	broad.mit.edu	37	chr3	124053260	124053260	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggtgttacatcaccagcgacGgctggagagcatctggcagc	9	7	14	11	2	2	1	1	0	1	1	2	3	2	1	1	4	4	4	1	4	1	1	rs35057827		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr3:124053260G>A	ENST00000240874.3	+	9	1716	c.1559G>A	c.(1558-1560)cGg>cAg	p.R520Q	KALRN_ENST00000360013.3_Missense_Mutation_p.R520Q|KALRN_ENST00000460856.1_Missense_Mutation_p.R520Q	NM_003947.4	NP_003938.1	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	520					apoptotic signaling pathway (GO:0097190)|intracellular signal transduction (GO:0035556)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|protein phosphorylation (GO:0006468)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						CACCAGCGACGGCTGGAGAGC	0.622													G|||	1	0.000199681	0	0	5008	,	,		19348	0		0.001	False		,,,				2504	0					ENST00000360013.3																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						c.(1558-1560)cGg>cAg		kalirin, RhoGEF kinase		G	GLN/ARG,GLN/ARG	0,4406		0,0,2203	56	58	57		1559,1559	4.1	1	3	dbSNP_126	57	6,8594	5.0+/-18.6	0,6,4294	yes	missense,missense	KALRN	NM_001024660.3,NM_003947.4	43,43	0,6,6497	AA,AG,GG		0.0698,0.0,0.0461	benign,benign	520/2987,520/1664	124053260	6,13000	2203	4300	6503	SO:0001583	missense	8997				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity	g.chr3:124053260G>A	U94190	CCDS3027.1, CCDS3028.1	3q21.2	2013-02-11	2005-03-11	2005-03-12	ENSG00000160145	ENSG00000160145		"Rho guanine nucleotide exchange factors", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	4814	protein-coding gene	gene with protein product	"serine/threonine kinase with Dbl and pleckstrin homology domains"	604605	"huntingtin-associated protein interacting protein (duo)"	HAPIP		9285789, 10023074	Standard	NM_001024660		Approved	duo, Hs.8004, TRAD, DUET, Kalirin, ARHGEF24	uc003ehd.3	O60229	OTTHUMG00000125545	ENST00000240874.3:c.1559G>A	3.37:g.124053260G>A	ENSP00000240874:p.Arg520Gln					KALRN_ENST00000460856.1_Missense_Mutation_p.R520Q|KALRN_ENST00000240874.3_Missense_Mutation_p.R520Q	p.R520Q	NM_001024660.3	NP_001019831.2	O60229	KALRN_HUMAN			9	1686	+			520					A8MSI4|C9JQ37|Q6ZN45|Q8TBQ5|Q9NSZ4|Q9Y2A5	Missense_Mutation	SNP	ENST00000240874.3	37	c.1559G>A	CCDS3027.1	1|1	4.578754578754579E-4|4.578754578754579E-4	0|0	0.0|0.0	0|0	0.0|0.0	0|0	0.0|0.0	1|1	0.0013192612137203166|0.0013192612137203166	G|G	3.111|3.111	-0.182568|-0.182568	0.06340|0.06340	0.0|0.0	6.98E-4|6.98E-4	ENSG00000160145|ENSG00000160145	ENST00000354186|ENST00000460856;ENST00000240874;ENST00000360013	.|T;T;T	.|0.41400	.|1.0;1.0;1.0	4.97|4.97	4.1|4.1	0.47936|0.47936	.|.	.|0.066271	.|0.64402	.|N	.|0.000011	T|T	0.14356|0.14356	0.0347|0.0347	N|N	0.01048|0.01048	-1.04|-1.04	0.80722|0.80722	D|D	1|1	.|B;B;B	.|0.17852	.|0.014;0.023;0.024	.|B;B;B	.|0.13407	.|0.004;0.002;0.009	T|T	0.15809|0.15809	-1.0424|-1.0424	5|10	.|0.06625	.|T	.|0.88	.|.	13.5074|13.5074	0.61491|0.61491	0.0749:0.0:0.9251:0.0|0.0749:0.0:0.9251:0.0	rs35057827|rs35057827	.|520;520;520	.|C9IZQ6;O60229;O60229-2	.|.;KALRN_HUMAN;.	S|Q	498|520	.|ENSP00000418611:R520Q;ENSP00000240874:R520Q;ENSP00000353109:R520Q	.|ENSP00000240874:R520Q	G|R	+|+	1|2	0|0	KALRN|KALRN	125535950|125535950	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.379000|0.379000	0.30106|0.30106	4.061000|4.061000	0.57485|0.57485	1.454000|1.454000	0.47793|0.47793	0.655000|0.655000	0.94253|0.94253	GGC|CGG		0.622	KALRN-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000258843.4	NM_003947		31	81	0	0	0	1	0	31	81					A	124053260	G	A	124053260	3	1	305	1	0	0	0	0	1	0	0	0	7975	1116	39	2	1593	2	KALRN	3	124053260	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	634155	124053260	73969170	235	14752											
HEG1	57493	broad.mit.edu	37	chr3	124739857	124739857	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccagactgaccgtcaaagatCgcagcgttctcgggccacca	10	6	10	15	4	2	3	1	1	1	2	4	3	2	3	4	1	1	2	4	1	1	1			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr3:124739857C>T	ENST00000311127.4	-	4	1098	c.1031G>A	c.(1030-1032)cGa>cAa	p.R344Q	HEG1_ENST00000477536.1_5'Flank	NM_020733.1	NP_065784.1	Q9ULI3	HEG1_HUMAN	heart development protein with EGF-like domains 1	344					cardiac atrium morphogenesis (GO:0003209)|cell-cell junction assembly (GO:0007043)|endothelial cell morphogenesis (GO:0001886)|in utero embryonic development (GO:0001701)|lung development (GO:0030324)|lymph circulation (GO:0003017)|lymph vessel development (GO:0001945)|multicellular organism growth (GO:0035264)|pericardium development (GO:0060039)|post-embryonic development (GO:0009791)|regulation of body fluid levels (GO:0050878)|vasculogenesis (GO:0001570)|venous blood vessel morphogenesis (GO:0048845)|ventricular septum development (GO:0003281)	cell-cell junction (GO:0005911)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(24)|ovary(2)|urinary_tract(4)	47						CGTCAAAGATCGCAGCGTTCT	0.527																																						ENST00000311127.4																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(24)|ovary(2)|urinary_tract(4)	47						c.(1030-1032)cGa>cAa		heart development protein with EGF-like domains 1							86	88	87					3																	124739857		2035	4198	6233	SO:0001583	missense	57493					extracellular region|integral to membrane	calcium ion binding	g.chr3:124739857C>T	AK074987	CCDS46898.1	3q21.2	2013-03-08	2013-03-08		ENSG00000173706	ENSG00000173706			29227	protein-coding gene	gene with protein product	"heart of glass"	614182	"HEG homolog 1 (zebrafish)"			10574462, 19151727, 23007647	Standard	NM_020733		Approved	KIAA1237, HEG	uc003ehs.4	Q9ULI3	OTTHUMG00000159486	ENST00000311127.4:c.1031G>A	3.37:g.124739857C>T	ENSP00000311502:p.Arg344Gln						p.R344Q	NM_020733.1	NP_065784.1	Q9ULI3	HEG1_HUMAN			4	1098	-			344					Q6NX66|Q8NC40|Q9BSV0	Missense_Mutation	SNP	ENST00000311127.4	37	c.1031G>A	CCDS46898.1	.	.	.	.	.	.	.	.	.	.	C	4.404	0.074672	0.08485	.	.	ENSG00000173706	ENST00000311127	T	0.40476	1.03	5.02	2.95	0.34219	.	.	.	.	.	T	0.15955	0.0384	N	0.02391	-0.57	0.09310	N	1	B;B	0.17667	0.013;0.023	B;B	0.11329	0.006;0.004	T	0.21280	-1.0250	9	0.25106	T	0.35	.	4.0522	0.09800	0.0:0.3139:0.0:0.6861	.	344;344	Q9ULI3-2;Q9ULI3	.;HEG1_HUMAN	Q	344	ENSP00000311502:R344Q	ENSP00000311502:R344Q	R	-	2	0	HEG1	126222547	0.236000	0.23804	0.016000	0.15963	0.055000	0.15305	0.431000	0.21444	0.556000	0.29098	0.655000	0.94253	CGA		0.527	HEG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355732.2	XM_087386		5	30	0	0	0	1	0	5	30					T	124739857	C	T	124739857	3	4	305	1	0	0	0	0	1	0	0	0	7044	884	31	2	3170	2	HEG1	3	124739857	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	686597	124739857	73282573	236	14753											
PLXNA1	5361	broad.mit.edu	37	chr3	126723743	126723743	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcagctgctcgcggcgggaCgcctgtgagcgagcagacga	7	5	17	12	6	0	2	0	1	0	1	1	5	0	3	1	2	5	4	1	2	0	0			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr3:126723743C>T	ENST00000393409.2	+	5	1635	c.1635C>T	c.(1633-1635)gaC>gaT	p.D545D	PLXNA1_ENST00000251772.4_Silent_p.D522D	NM_032242.3	NP_115618.3	Q9UIW2	PLXA1_HUMAN	plexin A1	545					axon guidance (GO:0007411)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|multicellular organismal development (GO:0007275)|regulation of smooth muscle cell migration (GO:0014910)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	receptor activity (GO:0004872)|semaphorin receptor activity (GO:0017154)			breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67				GBM - Glioblastoma multiforme(114;0.155)		CGCGGCGGGACGCCTGTGAGC	0.692																																						ENST00000393409.2																			0				breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67						c.(1633-1635)gaC>gaT		plexin A1							14	17	16					3																	126723743		2196	4288	6484	SO:0001819	synonymous_variant	5361				axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity	g.chr3:126723743C>T	X87832	CCDS33847.1, CCDS33847.2	3q21.2	2006-12-19				ENSG00000114554		"Plexins"	9099	protein-coding gene	gene with protein product		601055		PLXN1		8570614	Standard	NM_032242		Approved	NOV	uc003ejg.3	Q9UIW2		ENST00000393409.2:c.1635C>T	3.37:g.126723743C>T						PLXNA1_ENST00000251772.4_Silent_p.D522D	p.D545D	NM_032242.3	NP_115618.3	Q9UIW2	PLXA1_HUMAN		GBM - Glioblastoma multiforme(114;0.155)	5	1635	+			545						Silent	SNP	ENST00000393409.2	37	c.1635C>T	CCDS33847.2																																																																																				0.692	PLXNA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356451.1	NM_032242		12	60	0	0	0	1	0	12	60					T	126723743	C	T	126723743	2	4	305	1	0	0	0	0	0	0	0	1	12119	535	19	1		1	PLXNA1	3	126723743	Silent	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	1983886	126723743	71298687	237	14754											
MCM2	4171	broad.mit.edu	37	chr3	127336184	127336184	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	caacagagcatctccatctcGaaggctggcatcgtcacctc	10	8	8	15	2	3	1	1	0	2	1	7	2	3	1	2	2	2	3	2	2	2	0			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr3:127336184G>A	ENST00000265056.7	+	11	2080	c.1836G>A	c.(1834-1836)tcG>tcA	p.S612S		NM_004526.2	NP_004517.2	P49736	MCM2_HUMAN	minichromosome maintenance complex component 2	612	MCM.				cell cycle (GO:0007049)|cellular response to interleukin-4 (GO:0071353)|DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA unwinding involved in DNA replication (GO:0006268)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|nucleosome assembly (GO:0006334)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|MCM complex (GO:0042555)|microtubule cytoskeleton (GO:0015630)|nuclear origin of replication recognition complex (GO:0005664)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA replication origin binding (GO:0003688)|metal ion binding (GO:0046872)			ovary(3)|skin(2)|stomach(1)	6						TCTCCATCTCGAAGGCTGGCA	0.587																																						ENST00000265056.7																			0				ovary(3)|skin(2)|stomach(1)	6						c.(1834-1836)tcG>tcA		minichromosome maintenance complex component 2							103	74	84					3																	127336184		2203	4300	6503	SO:0001819	synonymous_variant	4171				cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	chromatin|MCM complex	ATP binding|helicase activity|metal ion binding	g.chr3:127336184G>A	X67334	CCDS3043.1	3q21	2007-04-04	2007-04-04		ENSG00000073111	ENSG00000073111			6944	protein-coding gene	gene with protein product	"mitotin"	116945	"minichromosome maintenance deficient (S. cerevisiae) 2 (mitotin)", "MCM2 minichromosome maintenance deficient 2, mitotin (S. cerevisiae)"	CCNL1, CDCL1		1710453, 8258304	Standard	NM_004526		Approved	D3S3194, KIAA0030, BM28, cdc19	uc003ejp.4	P49736	OTTHUMG00000159637	ENST00000265056.7:c.1836G>A	3.37:g.127336184G>A							p.S612S	NM_004526.2	NP_004517.2	P49736	MCM2_HUMAN			11	2080	+			612			MCM.		Q14577|Q15023|Q8N2V1|Q969W7|Q96AE1|Q9BRM7	Silent	SNP	ENST00000265056.7	37	c.1836G>A	CCDS3043.1	.	.	.	.	.	.	.	.	.	.	G	9.795	1.179059	0.21787	.	.	ENSG00000073111	ENST00000491422	.	.	.	6.17	-6.13	0.02118	.	.	.	.	.	T	0.61825	0.2378	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.63444	-0.6636	4	.	.	.	-25.1821	14.3257	0.66518	0.4207:0.1914:0.3879:0.0	.	.	.	.	Q	544	.	.	R	+	2	0	MCM2	128818874	0.002000	0.14202	0.331000	0.25455	0.872000	0.50106	-1.110000	0.03306	-2.002000	0.00963	-1.114000	0.02060	CGA		0.587	MCM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356612.1			12	53	0	0	0	1	0	12	53					A	127336184	G	A	127336184	2	1	305	1	0	0	0	0	0	0	0	1	9386	1045	37	2		2	MCM2	3	127336184	Silent	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	612441	127336184	70686246	238	14755											
ABTB1	80325	broad.mit.edu	37	chr3	127396381	127396381	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgacatctgcttccgagtggCtggctgcagcttcctctgcc	4	12	11	14	1	2	1	0	1	2	0	4	2	4	1	3	2	4	5	3	2	0	2			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr3:127396381C>T	ENST00000232744.8	+	9	922	c.836C>T	c.(835-837)gCt>gTt	p.A279V	ABTB1_ENST00000468137.1_Missense_Mutation_p.A137V|ABTB1_ENST00000393363.3_Missense_Mutation_p.A137V|ABTB1_ENST00000453791.2_Missense_Mutation_p.A137V					ankyrin repeat and BTB (POZ) domain containing 1											central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	10						TTCCGAGTGGCTGGCTGCAGC	0.632																																						ENST00000468137.1																			0				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	10						c.(409-411)gCt>gTt		ankyrin repeat and BTB (POZ) domain containing 1							77	80	79					3																	127396381		2203	4300	6503	SO:0001583	missense	80325					cytoplasm|nucleolus|plasma membrane	translation elongation factor activity	g.chr3:127396381C>T	AB053324	CCDS3045.1, CCDS46901.1	3q21	2013-01-10			ENSG00000114626	ENSG00000114626		"BTB/POZ domain containing", "Ankyrin repeat domain containing"	18275	protein-coding gene	gene with protein product		608308				10891360, 11494141	Standard	NM_172027		Approved	BPOZ, EF1ABP, Btb3, BTBD21	uc003ejt.3	Q969K4	OTTHUMG00000159636	ENST00000232744.8:c.836C>T	3.37:g.127396381C>T	ENSP00000232744:p.Ala279Val					ABTB1_ENST00000393363.3_Missense_Mutation_p.A137V|ABTB1_ENST00000232744.8_Missense_Mutation_p.A279V|ABTB1_ENST00000453791.2_Missense_Mutation_p.A137V	p.A137V			Q969K4	ABTB1_HUMAN			8	1026	+			279			BTB 1.			Missense_Mutation	SNP	ENST00000232744.8	37	c.410C>T	CCDS3045.1	.	.	.	.	.	.	.	.	.	.	C	13.35	2.211602	0.39102	.	.	ENSG00000114626	ENST00000393363;ENST00000232744;ENST00000453791;ENST00000468137	T;T;T;T	0.22743	1.94;1.94;1.94;1.94	5.17	3.25	0.37280	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.383837	0.31102	N	0.008248	T	0.23572	0.0570	M	0.80183	2.485	0.40388	D	0.979513	B;B	0.32010	0.351;0.178	B;B	0.26693	0.072;0.039	T	0.03315	-1.1049	10	0.38643	T	0.18	-25.1361	9.0482	0.36360	0.3674:0.5176:0.115:0.0	.	279;254	Q969K4;Q969K4-3	ABTB1_HUMAN;.	V	137;279;137;137	ENSP00000377030:A137V;ENSP00000232744:A279V;ENSP00000412684:A137V;ENSP00000417366:A137V	ENSP00000232744:A279V	A	+	2	0	ABTB1	128879071	0.869000	0.29996	0.417000	0.26559	0.668000	0.39293	1.811000	0.38942	0.468000	0.27243	0.591000	0.81541	GCT		0.632	ABTB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356595.1	NM_172027		24	81	0	0	0	1	0	24	81					T	127396381	C	T	127396381	3	4	305	1	0	0	0	0	1	0	0	0	102	797	28	3	870	3	ABTB1	3	127396381	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	60197	127396381	70626049	239	14756											
ABTB1	80325	broad.mit.edu	37	chr3	127399182	127399182	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtggcagcccggcaggagaCggactctatcccgctggtgg	6	7	16	12	3	1	1	0	0	1	1	2	3	2	2	2	6	1	3	2	6	1	1			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr3:127399182C>T	ENST00000232744.8	+	12	1387	c.1301C>T	c.(1300-1302)aCg>aTg	p.T434M	ABTB1_ENST00000468137.1_Missense_Mutation_p.T292M|ABTB1_ENST00000393363.3_Missense_Mutation_p.T292M|ABTB1_ENST00000453791.2_Missense_Mutation_p.T292M					ankyrin repeat and BTB (POZ) domain containing 1											central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	10						CGGCAGGAGACGGACTCTATC	0.672																																						ENST00000468137.1																			0				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	10						c.(874-876)aCg>aTg		ankyrin repeat and BTB (POZ) domain containing 1							43	40	41					3																	127399182		2198	4293	6491	SO:0001583	missense	80325					cytoplasm|nucleolus|plasma membrane	translation elongation factor activity	g.chr3:127399182C>T	AB053324	CCDS3045.1, CCDS46901.1	3q21	2013-01-10			ENSG00000114626	ENSG00000114626		"BTB/POZ domain containing", "Ankyrin repeat domain containing"	18275	protein-coding gene	gene with protein product		608308				10891360, 11494141	Standard	NM_172027		Approved	BPOZ, EF1ABP, Btb3, BTBD21	uc003ejt.3	Q969K4	OTTHUMG00000159636	ENST00000232744.8:c.1301C>T	3.37:g.127399182C>T	ENSP00000232744:p.Thr434Met					ABTB1_ENST00000393363.3_Missense_Mutation_p.T292M|ABTB1_ENST00000232744.8_Missense_Mutation_p.T434M|ABTB1_ENST00000453791.2_Missense_Mutation_p.T292M	p.T292M			Q969K4	ABTB1_HUMAN			11	1491	+			434			BTB 2.			Missense_Mutation	SNP	ENST00000232744.8	37	c.875C>T	CCDS3045.1	.	.	.	.	.	.	.	.	.	.	C	13.25	2.180181	0.38511	.	.	ENSG00000114626	ENST00000361019;ENST00000393363;ENST00000232744;ENST00000453791;ENST00000468137	T;T;T;T	0.66995	-0.24;-0.04;-0.24;-0.24	4.53	3.63	0.41609	.	0.110120	0.64402	D	0.000010	T	0.74473	0.3721	M	0.83312	2.635	0.58432	D	0.999999	D;P;D	0.63046	0.992;0.944;0.985	P;P;P	0.50659	0.641;0.496;0.647	T	0.75611	-0.3258	10	0.36615	T	0.2	-2.3579	13.4286	0.61042	0.1744:0.8256:0.0:0.0	.	270;434;409	C9JBQ0;Q969K4;Q969K4-3	.;ABTB1_HUMAN;.	M	270;292;434;292;292	ENSP00000377030:T292M;ENSP00000232744:T434M;ENSP00000412684:T292M;ENSP00000417366:T292M	ENSP00000232744:T434M	T	+	2	0	ABTB1	128881872	0.998000	0.40836	0.990000	0.47175	0.303000	0.27691	3.848000	0.55903	0.813000	0.34350	0.591000	0.81541	ACG		0.672	ABTB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356595.1	NM_172027		3	24	0	0	0	1	0	3	24					T	127399182	C	T	127399182	3	4	305	1	0	0	0	0	1	0	0	0	102	536	19	1	1347	1	ABTB1	3	127399182	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	2801	127399182	70623248	240	14757											
RPN1	6184	broad.mit.edu	37	chr3	128344415	128344415	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cagccgaacatagatgataaCggtgaagaacaggatgtaga	17	6	12	6	2	0	5	0	2	0	3	0	7	0	6	1	2	4	1	1	2	6	3	rs1126829	byFrequency	TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr3:128344415C>T	ENST00000296255.3	-	8	1405	c.1357G>A	c.(1357-1359)Gtt>Att	p.V453I	RPN1_ENST00000490166.1_5'Flank|RPN1_ENST00000497289.1_Missense_Mutation_p.V281I	NM_002950.3	NP_002941.1	P04843	RPN1_HUMAN	ribophorin I	453					cellular protein metabolic process (GO:0044267)|cellular protein modification process (GO:0006464)|gene expression (GO:0010467)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|oligosaccharyltransferase complex (GO:0008250)|rough endoplasmic reticulum (GO:0005791)	dolichyl-diphosphooligosaccharide-protein glycotransferase activity (GO:0004579)|poly(A) RNA binding (GO:0044822)			NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(2)|ovary(2)|stomach(2)	13				GBM - Glioblastoma multiforme(114;0.189)		TAGATGATAACGGTGAAGAAC	0.517			T	EVI1	AML								C|||	7	0.00139776	0	0	5008	,	,		18077	0		0.007	False		,,,				2504	0					ENST00000296255.3				Dom	yes		3	3q21.3-q25.2	6184	T	ribophorin I			L	EVI1		AML		0				NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(2)|ovary(2)|stomach(2)	13						c.(1357-1359)Gtt>Att		ribophorin I		C	ILE/VAL	2,4404	4.2+/-10.8	0,2,2201	196	191	193		1357	4.8	1	3	dbSNP_86	193	14,8586	10.5+/-38.8	0,14,4286	yes	missense	RPN1	NM_002950.3	29	0,16,6487	TT,TC,CC		0.1628,0.0454,0.123	possibly-damaging	453/608	128344415	16,12990	2203	4300	6503	SO:0001583	missense	6184				post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|melanosome|oligosaccharyltransferase complex|rough microsome	dolichyl-diphosphooligosaccharide-protein glycotransferase activity|protein binding	g.chr3:128344415C>T		CCDS3051.1	3q21.3	2013-03-06			ENSG00000163902	ENSG00000163902			10381	protein-coding gene	gene with protein product	"oligosaccharyltransferase 1 homolog (S. cerevisiae)", "oligosaccharyltransferase complex subunit (non-catalytic)"	180470					Standard	NM_002950		Approved	OST1	uc003ekr.1	P04843	OTTHUMG00000159691	ENST00000296255.3:c.1357G>A	3.37:g.128344415C>T	ENSP00000296255:p.Val453Ile					RPN1_ENST00000497289.1_Missense_Mutation_p.V281I	p.V453I	NM_002950.3	NP_002941.1	P04843	RPN1_HUMAN		GBM - Glioblastoma multiforme(114;0.189)	8	1405	-			453					B2R5Z0|D3DNB6|Q68DT1	Missense_Mutation	SNP	ENST00000296255.3	37	c.1357G>A	CCDS3051.1	6	0.0027472527472527475	0	0.0	0	0.0	0	0.0	6	0.0079155672823219	C	26.1	4.703598	0.88924	4.54E-4	0.001628	ENSG00000163902	ENST00000296255;ENST00000497289;ENST00000537139;ENST00000545956	.	.	.	5.71	4.84	0.62591	.	0.000000	0.85682	D	0.000000	T	0.53738	0.1815	L	0.58969	1.84	0.80722	D	1	P	0.45126	0.851	P	0.48270	0.572	T	0.58929	-0.7549	9	0.38643	T	0.18	-16.9459	14.6516	0.68800	0.0:0.9304:0.0:0.0696	.	453	P04843	RPN1_HUMAN	I	453;281;224;427	.	ENSP00000296255:V453I	V	-	1	0	RPN1	129827105	1.000000	0.71417	0.975000	0.42487	0.972000	0.66771	7.360000	0.79487	1.418000	0.47098	0.591000	0.81541	GTT		0.517	RPN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356934.2	NM_002950		52	176	0	0	0	1	0	52	176					T	128344415	C	T	128344415	3	4	305	1	0	0	0	0	1	0	0	0	13607	536	19	1	478	1	RPN1	3	128344415	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	945233	128344415	69678015	241	14758											
PLXND1	23129	broad.mit.edu	37	chr3	129275464	129275464	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	accctggggcactcacctgcGgccgatacctcttggcgtac	6	8	11	16	3	2	0	1	0	1	0	2	1	2	0	4	4	3	2	4	4	2	3	rs375183136		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr3:129275464G>A	ENST00000324093.4	-	35	5835	c.5657C>T	c.(5656-5658)cCg>cTg	p.P1886L	PLXND1_ENST00000393239.1_3'UTR|PLXND1_ENST00000504689.1_Missense_Mutation_p.P42L	NM_015103.2	NP_055918	Q9Y4D7	PLXD1_HUMAN	plexin D1	1886					angiogenesis (GO:0001525)|axon guidance (GO:0007411)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|endothelial cell migration (GO:0043542)|outflow tract morphogenesis (GO:0003151)|patterning of blood vessels (GO:0001569)|positive regulation of protein binding (GO:0032092)|regulation of angiogenesis (GO:0045765)|regulation of cell migration (GO:0030334)|semaphorin-plexin signaling pathway (GO:0071526)|synapse assembly (GO:0007416)	integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)	protein domain specific binding (GO:0019904)|semaphorin receptor activity (GO:0017154)		PLXND1/TMCC1(4)	NS(1)|breast(1)|endometrium(4)|kidney(5)|large_intestine(17)|lung(28)|prostate(10)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	72						ACTCACCTGCGGCCGATACCT	0.542																																					Ovarian(97;366 1484 3738 22084 39045)	ENST00000324093.4																		PLXND1/TMCC1(4)	0				NS(1)|breast(1)|endometrium(4)|kidney(5)|large_intestine(17)|lung(28)|prostate(10)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	72						c.(5656-5658)cCg>cTg		plexin D1		G	LEU/PRO	0,4406		0,0,2203	120	108	112		5657	4.9	0.7	3		112	2,8598	2.2+/-6.3	0,2,4298	no	missense	PLXND1	NM_015103.2	98	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	benign	1886/1926	129275464	2,13004	2203	4300	6503	SO:0001583	missense	23129				axon guidance	integral to membrane|intracellular|plasma membrane		g.chr3:129275464G>A	AY116661	CCDS33854.1	3q21.3	2007-05-16			ENSG00000004399	ENSG00000004399		"Plexins"	9107	protein-coding gene	gene with protein product		604282				12412018	Standard	NM_015103		Approved	KIAA0620	uc003emx.2	Q9Y4D7	OTTHUMG00000159547	ENST00000324093.4:c.5657C>T	3.37:g.129275464G>A	ENSP00000317128:p.Pro1886Leu					PLXND1_ENST00000504689.1_Missense_Mutation_p.P42L|PLXND1_ENST00000393239.1_3'UTR	p.P1886L	NM_015103.2	NP_055918.2	Q9Y4D7	PLXD1_HUMAN			35	5835	-			1886					A7E2C6|C9JPZ6|Q6PJS9|Q8IZJ2|Q9BTQ2	Missense_Mutation	SNP	ENST00000324093.4	37	c.5657C>T	CCDS33854.1	.	.	.	.	.	.	.	.	.	.	G	12.99	2.104620	0.37145	0.0	2.33E-4	ENSG00000004399	ENST00000324093;ENST00000504689	T;T	0.10668	2.85;2.85	4.93	4.93	0.64822	Plexin, cytoplasmic RasGAP domain (1);Rho GTPase activation protein (1);	0.365819	0.28301	N	0.015855	T	0.05135	0.0137	N	0.02539	-0.55	0.39518	D	0.96847	B;B	0.28026	0.007;0.198	B;B	0.22386	0.007;0.039	T	0.41805	-0.9488	10	0.62326	D	0.03	.	13.9551	0.64142	0.0:0.0:0.8477:0.1523	.	482;1886	B4DRU3;Q9Y4D7	.;PLXD1_HUMAN	L	1886;42	ENSP00000317128:P1886L;ENSP00000426162:P42L	ENSP00000317128:P1886L	P	-	2	0	PLXND1	130758154	0.015000	0.18098	0.654000	0.29608	0.609000	0.37215	1.822000	0.39052	2.272000	0.75746	0.462000	0.41574	CCG		0.542	PLXND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356132.4	NM_015103		7	22	0	0	0	1	0	7	22					A	129275464	G	A	129275464	3	1	305	1	0	0	0	0	1	0	0	0	12127	1116	39	2	128	2	PLXND1	3	129275464	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	931049	129275464	68746966	242	14759											
MRPL3	11222	broad.mit.edu	37	chr3	131208896	131208896	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcggcggcaatccaagttccCggtaaaattccaatatggat	12	10	9	10	3	0	0	0	0	0	0	4	1	3	1	3	4	0	3	3	4	6	4			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr3:131208896C>T	ENST00000264995.3	-	5	644	c.497G>A	c.(496-498)cGg>cAg	p.R166Q	MRPL3_ENST00000425847.2_Missense_Mutation_p.R193Q|MRPL3_ENST00000506946.1_5'UTR	NM_007208.3	NP_009139.1	P09001	RM03_HUMAN	mitochondrial ribosomal protein L3	166					translation (GO:0006412)	mitochondrial large ribosomal subunit (GO:0005762)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1)	10						TCCAAGTTCCCGGTAAAATTC	0.363																																						ENST00000264995.3																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1)	10						c.(496-498)cGg>cAg		mitochondrial ribosomal protein L3							65	64	64					3																	131208896		2203	4300	6503	SO:0001583	missense	11222				translation	mitochondrial large ribosomal subunit	RNA binding|structural constituent of ribosome	g.chr3:131208896C>T	X06323	CCDS3071.1	3q21-q23	2012-09-13			ENSG00000114686	ENSG00000114686		"Mitochondrial ribosomal proteins / large subunits"	10379	protein-coding gene	gene with protein product		607118		RPML3		2891103	Standard	NM_007208		Approved	MRL3	uc003eoh.3	P09001	OTTHUMG00000159607	ENST00000264995.3:c.497G>A	3.37:g.131208896C>T	ENSP00000264995:p.Arg166Gln					MRPL3_ENST00000425847.2_Missense_Mutation_p.R193Q|MRPL3_ENST00000506946.1_5'UTR	p.R166Q	NM_007208.3	NP_009139.1	P09001	RM03_HUMAN			5	644	-			166					Q6IBT2	Missense_Mutation	SNP	ENST00000264995.3	37	c.497G>A	CCDS3071.1	.	.	.	.	.	.	.	.	.	.	C	13.21	2.167846	0.38315	.	.	ENSG00000114686	ENST00000264995;ENST00000425847;ENST00000507669;ENST00000512877	T;T;T;T	0.42513	2.13;2.13;2.13;0.97	5.31	-0.531	0.11894	Translation elongation/initiation factor/Ribosomal, beta-barrel (1);	0.446138	0.24691	N	0.036387	T	0.28732	0.0712	L	0.31845	0.965	0.40319	D	0.978802	B;B	0.17667	0.012;0.023	B;B	0.17979	0.02;0.012	T	0.09796	-1.0658	10	0.23302	T	0.38	-0.0849	12.5056	0.55979	0.0:0.7842:0.0:0.2158	.	193;166	E7ETU7;P09001	.;RM03_HUMAN	Q	166;193;61;133	ENSP00000264995:R166Q;ENSP00000398536:R193Q;ENSP00000422419:R61Q;ENSP00000422035:R133Q	ENSP00000264995:R166Q	R	-	2	0	MRPL3	132691586	0.823000	0.29233	0.987000	0.45799	0.926000	0.56050	-0.104000	0.10923	-0.405000	0.07599	0.462000	0.41574	CGG		0.363	MRPL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356471.3	NM_007208		9	21	0	0	0	1	0	9	21					T	131208896	C	T	131208896	3	4	305	1	0	0	0	0	1	0	0	0	9793	652	23	2	573	2	MRPL3	3	131208896	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	1933432	131208896	66813534	243	14760											
EPHB1	2047	broad.mit.edu	37	chr3	134670328	134670328	+	Frame_Shift_Del	DEL	G	G	-																															caccaccttcatcaaccggcGgggggcccatcgcatctaca																								rs559321367		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr3:134670328delG	ENST00000398015.3	+	3	609	c.239delG	c.(238-240)cggfs	p.R80fs	EPHB1_ENST00000488154.1_3'UTR	NM_004441.4	NP_004432.1	P54762	EPHB1_HUMAN	EPH receptor B1	80	Eph LBD. {ECO:0000255|PROSITE- ProRule:PRU00883}.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|camera-type eye morphogenesis (GO:0048593)|cell chemotaxis (GO:0060326)|cell-substrate adhesion (GO:0031589)|central nervous system projection neuron axonogenesis (GO:0021952)|dendritic spine development (GO:0060996)|dendritic spine morphogenesis (GO:0060997)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|ephrin receptor signaling pathway (GO:0048013)|establishment of cell polarity (GO:0030010)|neural precursor cell proliferation (GO:0061351)|neurogenesis (GO:0022008)|optic nerve morphogenesis (GO:0021631)|positive regulation of synapse assembly (GO:0051965)|protein autophosphorylation (GO:0046777)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of JNK cascade (GO:0046328)|retinal ganglion cell axon guidance (GO:0031290)	axon (GO:0030424)|early endosome membrane (GO:0031901)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|transmembrane-ephrin receptor activity (GO:0005005)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						ATCAACCGGCGGGGGGCCCAT	0.547																																						ENST00000398015.3																			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						c.(238-240)cgfs		EPH receptor B1							29	31	31					3																	134670328		2047	4209	6256	SO:0001589	frameshift_variant	2047					integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding	g.chr3:134670328delG	L40636	CCDS46921.1	3q21-q23	2013-02-11	2004-10-28			ENSG00000154928		"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3392	protein-coding gene	gene with protein product		600600	"EphB1"	EPHT2		8666391	Standard	NM_004441		Approved	Hek6	uc003eqt.3	P54762		ENST00000398015.3:c.239delG	3.37:g.134670328delG	ENSP00000381097:p.Arg80fs					EPHB1_ENST00000488154.1_3'UTR	p.R80fs	NM_004441.4	NP_004432.1	P54762	EPHB1_HUMAN			3	609	+			80					A8K593|B3KTB2|B5A969|O43569|O95142|O95143|Q0VG87	Frame_Shift_Del	DEL	ENST00000398015.3	37	c.239delG	CCDS46921.1																																																																																				0.547	EPHB1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357671.1	NM_004441		9	25						9	25	---	---	---	---	-	134670328	G	-	134670328	7	5	305	1	0	1	0	1	0	0	0	0	5174	1116	39	0	249	0	EPHB1	3	134670328	Frame_Shift_Del	DEL	G	TCGA-KK-A59V-01A-11D-A29Q-08	3461432	134670328	63352102	244	14761											
RNF13	11342	broad.mit.edu	37	chr3	149678734	149678734	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tggggctttatcggaatcccGctcacatcagaacatgacag	11	9	10	11	2	2	2	2	1	0	1	4	3	3	3	1	3	1	2	1	3	3	2			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr3:149678734G>A	ENST00000344229.3	+	11	1691	c.989G>A	c.(988-990)cGc>cAc	p.R330H	RNF13_ENST00000392894.3_Missense_Mutation_p.R330H|RNF13_ENST00000361785.6_Missense_Mutation_p.R211H	NM_007282.4	NP_009213.1	O43567	RNF13_HUMAN	ring finger protein 13	330					protein autoubiquitination (GO:0051865)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|skin(2)	11		all_neural(597;0.0138)|Myeloproliferative disorder(1037;0.0255)	LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)			TCGGAATCCCGCTCACATCAG	0.413																																						ENST00000344229.3																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|skin(2)	11						c.(988-990)cGc>cAc		ring finger protein 13							90	80	83					3																	149678734		2203	4300	6503	SO:0001583	missense	11342				protein autoubiquitination	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|late endosome membrane|lysosomal membrane|nuclear inner membrane	ubiquitin-protein ligase activity|zinc ion binding	g.chr3:149678734G>A	AF037204	CCDS3146.1	3q25.1	2013-01-09			ENSG00000082996	ENSG00000082996		"RING-type (C3HC4) zinc fingers"	10057	protein-coding gene	gene with protein product		609247					Standard	NM_183381		Approved	RZF	uc003exp.4	O43567	OTTHUMG00000150338	ENST00000344229.3:c.989G>A	3.37:g.149678734G>A	ENSP00000341361:p.Arg330His					RNF13_ENST00000392894.3_Missense_Mutation_p.R330H|RNF13_ENST00000361785.6_Missense_Mutation_p.R211H	p.R330H	NM_007282.4	NP_009213.1	O43567	RNF13_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)		11	1691	+		all_neural(597;0.0138)|Myeloproliferative disorder(1037;0.0255)	330					A6NC87|B3KR12|Q05D66|Q6IBJ9	Missense_Mutation	SNP	ENST00000344229.3	37	c.989G>A	CCDS3146.1	.	.	.	.	.	.	.	.	.	.	G	5.063	0.197258	0.09599	.	.	ENSG00000082996	ENST00000392894;ENST00000344229;ENST00000491086;ENST00000361785;ENST00000482083	T;T;T;T;T	0.12774	3.67;3.67;2.69;2.65;2.69	5.52	-1.68	0.08212	.	0.399450	0.29631	N	0.011615	T	0.05502	0.0145	N	0.02916	-0.46	0.29475	N	0.856771	B;B	0.09022	0.002;0.0	B;B	0.01281	0.0;0.0	T	0.20840	-1.0263	10	0.40728	T	0.16	-1.388	13.7771	0.63059	0.895:0.0:0.105:0.0	.	211;330	B3KR12;O43567	.;RNF13_HUMAN	H	330;330;211;211;211	ENSP00000376628:R330H;ENSP00000341361:R330H;ENSP00000420667:R211H;ENSP00000355268:R211H;ENSP00000418863:R211H	ENSP00000341361:R330H	R	+	2	0	RNF13	151161424	0.897000	0.30589	0.987000	0.45799	0.847000	0.48162	1.009000	0.29886	-0.327000	0.08551	-0.355000	0.07637	CGC		0.413	RNF13-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356876.1	NM_183384		21	48	0	0	0	1	0	21	48					A	149678734	G	A	149678734	3	1	305	1	0	0	0	0	1	0	0	0	13437	1087	38	1	1023	1	RNF13	3	149678734	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	15008406	149678734	48343696	245	14762											
DHX36	170506	broad.mit.edu	37	chr3	154032977	154032978	+	Frame_Shift_Ins	INS	-	-	T																															tctgttcctgattctaaacaINStttttttttcttgatttatc																								rs373108427		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr3:154032977_154032978insT	ENST00000496811.1	-	3	540_541	c.460_461insA	c.(460-462)atgfs	p.M154fs	DHX36_ENST00000544526.1_Frame_Shift_Ins_p.M154fs|DHX36_ENST00000308361.6_Frame_Shift_Ins_p.M154fs|DHX36_ENST00000329463.5_Frame_Shift_Ins_p.M154fs	NM_020865.2	NP_065916.2	Q9H2U1	DHX36_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 36	154					ATP catabolic process (GO:0006200)|innate immune response (GO:0045087)|ossification (GO:0001503)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|response to exogenous dsRNA (GO:0043330)|response to virus (GO:0009615)|RNA secondary structure unwinding (GO:0010501)|transcription, DNA-templated (GO:0006351)	chromosome, telomeric region (GO:0000781)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|core promoter binding (GO:0001047)|DNA-dependent ATPase activity (GO:0008094)|double-stranded RNA binding (GO:0003725)|G-quadruplex DNA binding (GO:0051880)|G-quadruplex RNA binding (GO:0002151)|histone deacetylase binding (GO:0042826)|poly(A) RNA binding (GO:0044822)|transcription regulatory region DNA binding (GO:0044212)			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(11)|prostate(2)|skin(1)|urinary_tract(1)	35			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			GATTCTAAACATTTTTTTTTCT	0.337																																						ENST00000496811.1																			0				endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(11)|prostate(2)|skin(1)|urinary_tract(1)	35						c.(460-462)gttfs		DEAH (Asp-Glu-Ala-His) box polypeptide 36																																				SO:0001589	frameshift_variant	170506					cytoplasm|nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding	g.chr3:154032977_154032978insT	AF217190	CCDS3171.1, CCDS54657.1	3q25.2	2012-09-20	2003-06-13	2003-06-20	ENSG00000174953	ENSG00000174953		"DEAH-boxes"	14410	protein-coding gene	gene with protein product		612767	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 36"	DDX36			Standard	NM_020865		Approved	MLEL1, KIAA1488	uc003ezy.4	Q9H2U1	OTTHUMG00000159109	ENST00000496811.1:c.461dupA	3.37:g.154032986_154032986dupT	ENSP00000417078:p.Met154fs					DHX36_ENST00000329463.5_Frame_Shift_Ins_p.V154fs|DHX36_ENST00000308361.6_Frame_Shift_Ins_p.V154fs|DHX36_ENST00000544526.1_Frame_Shift_Ins_p.V154fs	p.V154fs	NM_020865.2	NP_065916.2	Q9H2U1	DHX36_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)		3	540_541	-			154					B2RB00|Q70JU3|Q8IYE5|Q9P240	Frame_Shift_Ins	INS	ENST00000496811.1	37	c.460_461insA	CCDS3171.1																																																																																				0.337	DHX36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353349.1	NM_020865		13	32						13	32	---	---	---	---	T	154032978	-	T	154032977	7	5	305	1	0	1	1	0	0	0	0	0	4509	217	8	0	2657	0	DHX36	3	154032977	Frame_Shift_Ins	INS	-	TCGA-KK-A59V-01A-11D-A29Q-08	4354243	154032977	43989453	246	14763											
GMPS	8833	broad.mit.edu	37	chr3	155649577	155649577	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gactgtcgttcctacagttaCgtgtgtggaatctccagtaa	9	13	10	9	2	1	0	0	0	1	0	4	2	2	1	2	1	2	3	2	1	4	4			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr3:155649577C>T	ENST00000496455.2	+	13	1919	c.1584C>T	c.(1582-1584)taC>taT	p.Y528Y	GMPS_ENST00000295920.7_Silent_p.Y429Y	NM_003875.2	NP_003866.1	P49915	GUAA_HUMAN	guanine monphosphate synthase	528					glutamine metabolic process (GO:0006541)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase biosynthetic process (GO:0009113)|purine nucleobase metabolic process (GO:0006144)|purine ribonucleoside monophosphate biosynthetic process (GO:0009168)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|GMP synthase (glutamine-hydrolyzing) activity (GO:0003922)|GMP synthase activity (GO:0003921)|pyrophosphatase activity (GO:0016462)			breast(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(12)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)		L-Glutamine(DB00130)	CCTACAGTTACGTGTGTGGAA	0.353			T	MLL	AML																																Ovarian(153;896 1876 4149 15499 28134)	ENST00000496455.1				Dom	yes		3	3q24	8833	T	guanine monphosphate synthetase			L	MLL		AML		0				breast(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(12)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(1582-1584)taC>taT		guanine monphosphate synthase	L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)						173	157	162					3																	155649577		1839	4084	5923	SO:0001819	synonymous_variant	8833				glutamine metabolic process|purine base biosynthetic process	cytosol	ATP binding|GMP synthase (glutamine-hydrolyzing) activity|GMP synthase activity	g.chr3:155649577C>T	U10860	CCDS46941.1	3q25.31	2013-06-18	2013-06-18		ENSG00000163655	ENSG00000163655	6.3.5.2		4378	protein-coding gene	gene with protein product	"GMP synthase"	600358	"guanine monphosphate synthetase"			8089153, 9195163	Standard	NM_003875		Approved		uc003faq.3	P49915	OTTHUMG00000158551	ENST00000496455.2:c.1584C>T	3.37:g.155649577C>T						GMPS_ENST00000295920.7_Silent_p.Y429Y	p.Y528Y	NM_003875.2	NP_003866.1	P49915	GUAA_HUMAN	Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)		13	1919	+			528					A8K639|B4DXV7|F8W720	Silent	SNP	ENST00000496455.2	37	c.1584C>T	CCDS46941.1																																																																																				0.353	GMPS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351260.2			37	116	0	0	0	1	0	37	116					T	155649577	C	T	155649577	2	4	305	1	0	0	0	0	0	0	0	1	6498	547	19	1		1	GMPS	3	155649577	Silent	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	1616600	155649577	42372853	247	14764											
PLD1	5337	broad.mit.edu	37	chr3	171431771	171431771	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctttgtctaccagcaggaCgaaggcaatggcaccgctgt	9	10	11	11	2	2	0	0	0	2	0	2	2	2	1	2	3	2	4	2	3	3	3	rs370939132		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr3:171431771C>T	ENST00000351298.4	-	9	949	c.823G>A	c.(823-825)Gtc>Atc	p.V275I	PLD1_ENST00000356327.5_Missense_Mutation_p.V275I|PLD1_ENST00000342215.6_Missense_Mutation_p.V275I|PLD1_ENST00000340989.4_Missense_Mutation_p.V275I	NM_002662.4	NP_002653.1	Q13393	PLD1_HUMAN	phospholipase D1, phosphatidylcholine-specific	275	PH.				chemotaxis (GO:0006935)|defense response to Gram-positive bacterium (GO:0050830)|glycerophospholipid biosynthetic process (GO:0046474)|lipid catabolic process (GO:0016042)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylglycerol biosynthetic process (GO:0006655)|phospholipid metabolic process (GO:0006644)|Ras protein signal transduction (GO:0007265)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	N-acylphosphatidylethanolamine-specific phospholipase D activity (GO:0070290)|phosphatidylinositol binding (GO:0035091)|phospholipase D activity (GO:0004630)			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|lung(27)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	63	all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		Choline(DB00122)	ACCAGCAGGACGAAGGCAATG	0.358																																					NSCLC(149;2174 3517 34058)	ENST00000356327.5																			0				breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|lung(27)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	63						c.(823-825)Gtc>Atc		phospholipase D1, phosphatidylcholine-specific	Choline(DB00122)	C	ILE/VAL,ILE/VAL	0,4406		0,0,2203	123	127	126		823,823	5.4	1	3		126	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	PLD1	NM_001130081.2,NM_002662.4	29,29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging	275/1037,275/1075	171431771	1,13005	2203	4300	6503	SO:0001583	missense	5337				cell communication|chemotaxis|Ras protein signal transduction	endoplasmic reticulum membrane|Golgi membrane|late endosome membrane|perinuclear region of cytoplasm	NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity	g.chr3:171431771C>T	U38545	CCDS3216.1, CCDS46957.1	3q26	2013-01-10	2006-02-17		ENSG00000075651	ENSG00000075651	3.1.4.4	"Pleckstrin homology (PH) domain containing"	9067	protein-coding gene	gene with protein product	"choline phosphatase 1"	602382				9858822, 8530346	Standard	NM_002662		Approved		uc003fhs.3	Q13393	OTTHUMG00000156947	ENST00000351298.4:c.823G>A	3.37:g.171431771C>T	ENSP00000342793:p.Val275Ile					PLD1_ENST00000342215.6_Missense_Mutation_p.V275I|PLD1_ENST00000351298.4_Missense_Mutation_p.V275I|PLD1_ENST00000340989.4_Missense_Mutation_p.V275I	p.V275I	NM_001130081.2	NP_001123553.1	Q13393	PLD1_HUMAN	LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		9	893	-	all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186)		275			PH.			Missense_Mutation	SNP	ENST00000351298.4	37	c.823G>A	CCDS3216.1	.	.	.	.	.	.	.	.	.	.	C	34	5.396646	0.96009	0.0	1.16E-4	ENSG00000075651	ENST00000356327;ENST00000351298;ENST00000342215;ENST00000340989	T;T;T;T	0.64438	-0.1;-0.1;-0.1;-0.1	5.36	5.36	0.76844	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	0.000000	0.85682	D	0.000000	T	0.80757	0.4684	M	0.80422	2.495	0.80722	D	1	D;D	0.89917	1.0;0.995	D;P	0.91635	0.999;0.902	T	0.81642	-0.0840	10	0.52906	T	0.07	-23.4269	18.2205	0.89899	0.0:1.0:0.0:0.0	.	298;275	Q59EA4;Q13393	.;PLD1_HUMAN	I	275	ENSP00000348681:V275I;ENSP00000342793:V275I;ENSP00000339936:V275I;ENSP00000340326:V275I	ENSP00000340326:V275I	V	-	1	0	PLD1	172914465	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.093000	0.76937	2.678000	0.91216	0.563000	0.77884	GTC		0.358	PLD1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000346730.2	NM_002662		17	45	0	0	0	1	0	17	45					T	171431771	C	T	171431771	3	4	305	1	0	0	0	0	1	0	0	0	12045	536	19	1	2477	1	PLD1	3	171431771	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	15782194	171431771	26590659	248	14765											
GNB4	59345	broad.mit.edu	37	chr3	179131318	179131318	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaacaaaagtcctcatgtcaGgactcaaagaaagactcatc	18	7	6	10	0	4	2	4	0	0	2	6	3	5	3	1	1	1	0	1	1	5	0			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr3:179131318G>T	ENST00000232564.3	-	8	867	c.581C>A	c.(580-582)cCt>cAt	p.P194H	GNB4_ENST00000468623.1_Missense_Mutation_p.P194H|GNB4_ENST00000465153.1_5'UTR	NM_021629.3	NP_067642.1	Q9HAV0	GBB4_HUMAN	guanine nucleotide binding protein (G protein), beta polypeptide 4	194					cell death (GO:0008219)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|small molecule metabolic process (GO:0044281)|substantia nigra development (GO:0021762)	extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	protein complex binding (GO:0032403)|signal transducer activity (GO:0004871)			endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	16	all_cancers(143;2.01e-16)|Ovarian(172;0.0172)|Breast(254;0.191)		OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.0169)|BRCA - Breast invasive adenocarcinoma(182;0.237)			CCTCATGTCAGGACTCAAAGA	0.433																																					Melanoma(105;1405 1491 7265 20440 33721)	ENST00000232564.3																			0				endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	16						c.(580-582)cCt>cAt		guanine nucleotide binding protein (G protein), beta polypeptide 4							150	144	146					3																	179131318		2203	4300	6503	SO:0001583	missense	59345				cellular response to glucagon stimulus|energy reserve metabolic process	plasma membrane	signal transducer activity	g.chr3:179131318G>T	AF300648	CCDS3230.1	3q27.1	2013-01-10			ENSG00000114450	ENSG00000114450		"WD repeat domain containing"	20731	protein-coding gene	gene with protein product		610863				10644457, 11842130	Standard	NM_021629		Approved		uc003fjv.4	Q9HAV0	OTTHUMG00000157440	ENST00000232564.3:c.581C>A	3.37:g.179131318G>T	ENSP00000232564:p.Pro194His					GNB4_ENST00000465153.1_5'UTR|GNB4_ENST00000468623.1_Missense_Mutation_p.P194H	p.P194H	NM_021629.3	NP_067642.1	Q9HAV0	GBB4_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.0169)|BRCA - Breast invasive adenocarcinoma(182;0.237)		8	867	-	all_cancers(143;2.01e-16)|Ovarian(172;0.0172)|Breast(254;0.191)		194					B3KMH5|D3DNR8	Missense_Mutation	SNP	ENST00000232564.3	37	c.581C>A	CCDS3230.1	.	.	.	.	.	.	.	.	.	.	G	32	5.110115	0.94292	.	.	ENSG00000114450	ENST00000232564;ENST00000468623	T;T	0.70516	-0.49;-0.49	5.66	5.66	0.87406	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.84982	0.5593	M	0.81179	2.53	0.80722	D	1	P;D	0.57257	0.841;0.979	P;D	0.65010	0.791;0.931	D	0.86321	0.1692	10	0.87932	D	0	-28.7483	19.7652	0.96335	0.0:0.0:1.0:0.0	.	194;194	Q9HAV0;A8K3F6	GBB4_HUMAN;.	H	194	ENSP00000232564:P194H;ENSP00000419693:P194H	ENSP00000232564:P194H	P	-	2	0	GNB4	180614012	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.707000	0.98725	2.668000	0.90789	0.650000	0.86243	CCT		0.433	GNB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258218.1	NM_021629		26	63	1	0	1.17739e-12	1	1.2273e-12	26	63					T	179131318	G	T	179131318	3	4	305	1	0	0	0	0	1	0	0	0	6520	1000	35	5	453	5	GNB4	3	179131318	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	7699547	179131318	18891112	249	14766											
CHRD	8646	broad.mit.edu	37	chr3	184099097	184099097	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaaccagagtgcccaaccccGgcctgtgggcagccgcgcca	9	3	12	17	3	0	1	0	0	0	1	0	1	0	1	7	2	4	1	7	2	2	0	rs540307891		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr3:184099097G>A	ENST00000204604.1	+	3	573	c.327G>A	c.(325-327)ccG>ccA	p.P109P	CHRD_ENST00000348986.3_Silent_p.P109P|EIF2B5_ENST00000444495.1_Intron|CHRD_ENST00000450923.1_Silent_p.P109P|CHRD_ENST00000545352.1_5'Flank|CHRD_ENST00000482805.1_3'UTR	NM_003741.2	NP_003732.2	Q9H2X0	CHRD_HUMAN	chordin	109	VWFC 1. {ECO:0000255|PROSITE- ProRule:PRU00220}.				BMP signaling pathway involved in spinal cord dorsal/ventral patterning (GO:0021919)|floor plate development (GO:0033504)|forebrain development (GO:0030900)|gastrulation with mouth forming second (GO:0001702)|mesoderm formation (GO:0001707)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of cell migration (GO:0030336)|negative regulation of osteoblast differentiation (GO:0045668)|osteoblast differentiation (GO:0001649)|positive regulation of cell adhesion (GO:0045785)|positive regulation of mesenchymal cell proliferation (GO:0002053)|skeletal system development (GO:0001501)	extracellular space (GO:0005615)	cytokine binding (GO:0019955)|heparin binding (GO:0008201)			NS(1)|biliary_tract(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(23)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48	all_cancers(143;6.33e-11)|Ovarian(172;0.0339)		Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			GCCCAACCCCGGCCTGTGGGC	0.687																																						ENST00000204604.1																			0				NS(1)|biliary_tract(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(23)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						c.(325-327)ccG>ccA		chordin							11	15	14					3																	184099097		2196	4291	6487	SO:0001819	synonymous_variant	8646				BMP signaling pathway involved in spinal cord dorsal/ventral patterning|floor plate development|negative regulation of BMP signaling pathway|negative regulation of cell migration|positive regulation of cell adhesion|skeletal system development	extracellular space	cytokine binding	g.chr3:184099097G>A	AF076612	CCDS3266.1	3q27	2008-07-18			ENSG00000090539	ENSG00000090539			1949	protein-coding gene	gene with protein product		603475				9782094, 11472837	Standard	NM_003741		Approved		uc003fov.3	Q9H2X0	OTTHUMG00000141267	ENST00000204604.1:c.327G>A	3.37:g.184099097G>A						CHRD_ENST00000450923.1_Silent_p.P109P|EIF2B5_ENST00000444495.1_Intron|CHRD_ENST00000348986.3_Silent_p.P109P|CHRD_ENST00000482805.1_3'UTR	p.P109P	NM_003741.2	NP_003732.2	Q9H2X0	CHRD_HUMAN	Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		3	573	+	all_cancers(143;6.33e-11)|Ovarian(172;0.0339)		109			VWFC 1.		O95254|Q2M1I8|Q6UW83|Q9H2D3|Q9H2W8|Q9H2W9|Q9P0Z2|Q9P0Z3|Q9P0Z4|Q9P0Z5	Silent	SNP	ENST00000204604.1	37	c.327G>A	CCDS3266.1																																																																																				0.687	CHRD-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000280432.1	NM_003741		3	23	0	0	0	1	0	3	23					A	184099097	G	A	184099097	2	1	305	1	0	0	0	0	0	0	0	1	3372	1103	39	2		2	CHRD	3	184099097	Silent	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	4967779	184099097	13923333	250	14767											
EPHB3	2049	broad.mit.edu	37	chr3	184294936	184294936	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caagagccctctgccgcctcGttatgcggccgtgaatatca	8	9	10	14	4	2	2	1	1	1	1	3	2	2	2	4	1	3	1	4	1	4	2	rs370732996		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr3:184294936G>A	ENST00000330394.2	+	5	1771	c.1319G>A	c.(1318-1320)cGt>cAt	p.R440H	EIF2B5_ENST00000444495.1_Intron	NM_004443.3	NP_004434.2	P54753	EPHB3_HUMAN	EPH receptor B3	440	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.		R -> C (in dbSNP:rs56029711). {ECO:0000269|PubMed:17344846}.		angiogenesis (GO:0001525)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|cell migration (GO:0016477)|central nervous system projection neuron axonogenesis (GO:0021952)|corpus callosum development (GO:0022038)|dendritic spine development (GO:0060996)|dendritic spine morphogenesis (GO:0060997)|digestive tract morphogenesis (GO:0048546)|ephrin receptor signaling pathway (GO:0048013)|palate development (GO:0060021)|positive regulation of synapse assembly (GO:0051965)|protein autophosphorylation (GO:0046777)|regulation of axonogenesis (GO:0050770)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell-cell adhesion (GO:0022407)|regulation of Rac GTPase activity (GO:0032314)|retinal ganglion cell axon guidance (GO:0031290)|substrate adhesion-dependent cell spreading (GO:0034446)|thymus development (GO:0048538)|urogenital system development (GO:0001655)	cell projection (GO:0042995)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|ephrin receptor activity (GO:0005003)			breast(5)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_cancers(143;1.89e-10)|Ovarian(172;0.0339)		Epithelial(37;1.27e-34)|OV - Ovarian serous cystadenocarcinoma(80;3.8e-22)			CTGCCGCCTCGTTATGCGGCC	0.632																																						ENST00000330394.2																			0				breast(5)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	51						c.(1318-1320)cGt>cAt		EPH receptor B3							34	32	33					3																	184294936		2203	4300	6503	SO:0001583	missense	2049					integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr3:184294936G>A	X75208	CCDS3268.1	3q27.1	2013-09-19	2004-10-28		ENSG00000182580	ENSG00000182580		"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3394	protein-coding gene	gene with protein product		601839	"EphB3"	ETK2		8397371	Standard	NM_004443		Approved	Hek2, Tyro6	uc003foz.3	P54753	OTTHUMG00000156710	ENST00000330394.2:c.1319G>A	3.37:g.184294936G>A	ENSP00000332118:p.Arg440His					EIF2B5_ENST00000444495.1_Intron	p.R440H	NM_004443.3	NP_004434.2	P54753	EPHB3_HUMAN	Epithelial(37;1.27e-34)|OV - Ovarian serous cystadenocarcinoma(80;3.8e-22)		5	1771	+	all_cancers(143;1.89e-10)|Ovarian(172;0.0339)		440		R -> C (in dbSNP:rs56029711).	Fibronectin type-III 1.		Q7Z740	Missense_Mutation	SNP	ENST00000330394.2	37	c.1319G>A	CCDS3268.1	.	.	.	.	.	.	.	.	.	.	G	11.40	1.628228	0.28978	.	.	ENSG00000182580	ENST00000330394	T	0.73789	-0.78	5.3	5.3	0.74995	Fibronectin, type III (1);Immunoglobulin-like fold (1);	0.196420	0.45606	D	0.000352	T	0.48840	0.1522	N	0.02916	-0.46	0.37725	D	0.925046	B	0.12630	0.006	B	0.04013	0.001	T	0.52682	-0.8543	10	0.56958	D	0.05	.	8.0953	0.30824	0.1744:0.0:0.8256:0.0	.	440	P54753	EPHB3_HUMAN	H	440	ENSP00000332118:R440H	ENSP00000332118:R440H	R	+	2	0	EPHB3	185777630	1.000000	0.71417	0.983000	0.44433	0.096000	0.18686	6.293000	0.72731	2.639000	0.89480	0.448000	0.29417	CGT		0.632	EPHB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345413.1	NM_004443		16	28	0	0	0	1	0	16	28					A	184294936	G	A	184294936	3	1	305	1	0	0	0	0	1	0	0	0	5176	1145	40	1	1337	1	EPHB3	3	184294936	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	195839	184294936	13727494	251	14768											
RTP2	344892	broad.mit.edu	37	chr3	187416696	187416696	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcacagctgcttgaagacgcGcatgcgcaccgagcccgccc	8	4	12	17	5	0	2	0	1	0	1	0	3	0	2	3	0	4	5	3	0	1	1			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr3:187416696G>A	ENST00000358241.1	-	2	696	c.268C>T	c.(268-270)Cgc>Tgc	p.R90C		NM_001004312.2	NP_001004312.2	Q5QGT7	RTP2_HUMAN	receptor (chemosensory) transporter protein 2	90					protein insertion into membrane (GO:0051205)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	olfactory receptor binding (GO:0031849)			large_intestine(3)|lung(14)|skin(1)	18	all_cancers(143;4.06e-12)|Ovarian(172;0.0418)		OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.0515)		TTGAAGACGCGCATGCGCACC	0.647																																						ENST00000358241.1																			0				large_intestine(3)|lung(14)|skin(1)	18						c.(268-270)Cgc>Tgc		receptor (chemosensory) transporter protein 2							25	23	24					3																	187416696		2203	4295	6498	SO:0001583	missense	344892				protein insertion into membrane	cell surface|integral to membrane|plasma membrane	olfactory receptor binding	g.chr3:187416696G>A	AY562236	CCDS33911.1	3q27.3	2014-02-20	2006-11-21		ENSG00000198471	ENSG00000198471		"Receptor transporter proteins"	32486	protein-coding gene	gene with protein product	"receptor transporting protein 2", "zinc finger, 3CxxC-type 2"	609138	"receptor transporter protein 2"			16271481, 15550249, 16720576	Standard	NM_001004312		Approved	MGC78665, Z3CXXC2	uc003fro.1	Q5QGT7	OTTHUMG00000156458	ENST00000358241.1:c.268C>T	3.37:g.187416696G>A	ENSP00000350976:p.Arg90Cys						p.R90C	NM_001004312.2	NP_001004312.2	Q5QGT7	RTP2_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.0515)	2	696	-	all_cancers(143;4.06e-12)|Ovarian(172;0.0418)		90					Q6NVH4	Missense_Mutation	SNP	ENST00000358241.1	37	c.268C>T	CCDS33911.1	.	.	.	.	.	.	.	.	.	.	G	19.96	3.924207	0.73213	.	.	ENSG00000198471	ENST00000358241	T	0.27402	1.67	4.32	4.32	0.51571	.	0.108090	0.64402	D	0.000007	T	0.55561	0.1928	M	0.81341	2.54	0.47621	D	0.999476	D	0.89917	1.0	D	0.79784	0.993	T	0.60031	-0.7342	10	0.87932	D	0	-38.4169	12.6181	0.56588	0.0:0.0:1.0:0.0	.	90	Q5QGT7	RTP2_HUMAN	C	90	ENSP00000350976:R90C	ENSP00000350976:R90C	R	-	1	0	RTP2	188899390	1.000000	0.71417	1.000000	0.80357	0.863000	0.49368	1.887000	0.39698	2.701000	0.92244	0.563000	0.77884	CGC		0.647	RTP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344259.1	NM_001004312		3	34	0	0	0	1	0	3	34					A	187416696	G	A	187416696	3	1	305	1	0	0	0	0	1	0	0	0	13734	1087	38	1	413	1	RTP2	3	187416696	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	3121760	187416696	10605734	252	14769											
HRASLS	57110	broad.mit.edu	37	chr3	192973512	192973512	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gggacttgatcgaagtgttcCgtcctggctatcagcactgg	7	11	13	10	2	1	1	1	1	0	0	4	3	3	2	2	3	1	3	2	3	2	3	rs367575948	byFrequency	TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr3:192973512C>T	ENST00000602513.1	+	2	482	c.73C>T	c.(73-75)Cgt>Tgt	p.R25C	HRASLS_ENST00000264735.2_Missense_Mutation_p.R130C			Q9HDD0	HRSL1_HUMAN	HRAS-like suppressor	25					ether lipid metabolic process (GO:0046485)|lipid catabolic process (GO:0016042)|peroxisome organization (GO:0007031)	integral component of membrane (GO:0016021)|nuclear envelope lumen (GO:0005641)|peroxisome (GO:0005777)	phospholipase activity (GO:0004620)|transferase activity (GO:0016740)			breast(1)|large_intestine(2)|lung(4)|prostate(1)|skin(2)	10	all_cancers(143;9.1e-09)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000159)		CGAAGTGTTCCGTCCTGGCTA	0.488													C|||	3	0.000599042	0	0	5008	,	,		16952	0		0	False		,,,				2504	0.0031					ENST00000264735.2																			0				breast(1)|large_intestine(2)|lung(4)|prostate(1)|skin(2)	10						c.(388-390)Cgt>Tgt		HRAS-like suppressor		C	CYS/ARG	2,4404	4.2+/-10.8	0,2,2201	197	180	186		73	5.5	1	3		186	0,8600		0,0,4300	no	missense	HRASLS	NM_020386.3	180	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	probably-damaging	25/169	192973512	2,13004	2203	4300	6503	SO:0001583	missense	57110							g.chr3:192973512C>T	AB030816	CCDS3303.1, CCDS3303.2	3q29	2008-05-15			ENSG00000127252	ENSG00000127252			14922	protein-coding gene	gene with protein product		606487					Standard	NM_020386		Approved	H-REV107, HRASLS1	uc003fta.4	Q9HDD0	OTTHUMG00000156104	ENST00000602513.1:c.73C>T	3.37:g.192973512C>T	ENSP00000473258:p.Arg25Cys					HRASLS_ENST00000602513.1_Missense_Mutation_p.R25C	p.R130C	NM_020386.4	NP_065119.2	Q9HDD0	HRSL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000159)	2	482	+	all_cancers(143;9.1e-09)|Ovarian(172;0.0386)		25					D2KX19	Missense_Mutation	SNP	ENST00000602513.1	37	c.388C>T		.	.	.	.	.	.	.	.	.	.	C	23.3	4.395911	0.83011	4.54E-4	0.0	ENSG00000127252	ENST00000264735	.	.	.	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	D	0.87744	0.6254	H	0.95470	3.675	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.90651	0.4582	9	0.87932	D	0	0.0	18.5869	0.91192	0.0:1.0:0.0:0.0	.	25	Q9HDD0	HRSL1_HUMAN	C	25	.	ENSP00000264735:R25C	R	+	1	0	HRASLS	194456206	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	3.643000	0.54374	2.868000	0.98415	0.557000	0.71058	CGT		0.488	HRASLS-201	KNOWN	basic|appris_principal	protein_coding	protein_coding				60	132	0	0	0	1	0	60	132					T	192973512	C	T	192973512	3	4	305	1	0	0	0	0	1	0	0	0	7349	652	23	2	75	2	HRASLS	3	192973512	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	5556816	192973512	5048918	253	14770											
OPA1	4976	broad.mit.edu	37	chr3	193377284	193377284	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttctagctgaaaatgcaatTgaaaacatggtgggtccaga	14	11	10	6	0	1	3	0	2	1	1	2	3	2	3	1	2	3	2	1	2	6	3			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr3:193377284T>C	ENST00000392438.3	+	23	2523	c.2289T>C	c.(2287-2289)atT>atC	p.I763I	OPA1_ENST00000361908.3_Silent_p.I800I|OPA1_ENST00000361150.2_Silent_p.I764I|OPA1_ENST00000361715.2_Silent_p.I782I|OPA1_ENST00000361828.2_Silent_p.I781I|OPA1_ENST00000361510.2_Silent_p.I818I	NM_015560.2	NP_056375.2	O60313	OPA1_HUMAN	optic atrophy 1 (autosomal dominant)	763					apoptotic process (GO:0006915)|axon transport of mitochondrion (GO:0019896)|cellular senescence (GO:0090398)|GTP catabolic process (GO:0006184)|inner mitochondrial membrane organization (GO:0007007)|mitochondrial fission (GO:0000266)|mitochondrial fusion (GO:0008053)|mitochondrion organization (GO:0007005)|negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902236)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|neural tube closure (GO:0001843)|visual perception (GO:0007601)	dendrite (GO:0030425)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial crista (GO:0030061)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|magnesium ion binding (GO:0000287)			breast(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(4)|lung(15)|upper_aerodigestive_tract(1)|urinary_tract(2)	31	all_cancers(143;9.56e-09)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;9.19e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000162)		AAAATGCAATTGAAAACATGG	0.318																																						ENST00000361510.2																			0				breast(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(4)|lung(15)|upper_aerodigestive_tract(1)|urinary_tract(2)	31						c.(2452-2454)atT>atC		optic atrophy 1 (autosomal dominant)							46	48	48					3																	193377284		2201	4300	6501	SO:0001819	synonymous_variant	4976				apoptosis|axon transport of mitochondrion|inner mitochondrial membrane organization|mitochondrial fission|mitochondrial fusion|positive regulation of anti-apoptosis|response to stimulus|visual perception	dendrite|integral to membrane|mitochondrial crista|mitochondrial intermembrane space|mitochondrial outer membrane	GTP binding|GTPase activity|magnesium ion binding|protein binding	g.chr3:193377284T>C	AB011139	CCDS33917.1, CCDS43186.1	3q29	2014-09-17			ENSG00000198836	ENSG00000198836			8140	protein-coding gene	gene with protein product	"mitochondrial dynamin-like GTPase", "dynamin-like guanosine triphosphatase", "Dynamin-like 120 kDa protein, mitochondrial"	605290				9490303	Standard	NM_015560		Approved	NTG, KIAA0567, FLJ12460, NPG, MGM1	uc003ftg.3	O60313	OTTHUMG00000149897	ENST00000392438.3:c.2289T>C	3.37:g.193377284T>C						OPA1_ENST00000361908.3_Silent_p.I800I|OPA1_ENST00000361150.2_Silent_p.I764I|OPA1_ENST00000392438.3_Silent_p.I763I|OPA1_ENST00000361828.2_Silent_p.I781I|OPA1_ENST00000361715.2_Silent_p.I782I	p.I818I	NM_130837.2	NP_570850.2	O60313	OPA1_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;9.19e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000162)	25	2688	+	all_cancers(143;9.56e-09)|Ovarian(172;0.0386)		763					D3DNW4	Silent	SNP	ENST00000392438.3	37	c.2454T>C	CCDS43186.1																																																																																				0.318	OPA1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000313812.2	NM_130837		5	11	0	0	0	1	0	5	11					C	193377284	T	C	193377284	2	2	305	1	0	0	0	0	0	0	0	1	10871	1800	63	4		4	OPA1	3	193377284	Silent	SNP	T	TCGA-KK-A59V-01A-11D-A29Q-08	403772	193377284	4645146	254	14771											
GAK	2580	broad.mit.edu	37	chr4	876523	876523	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gacgttcttgtggtcctgccGcagccaggcgtgcatgttcc	4	11	13	13	3	1	0	0	0	1	0	3	1	3	0	4	2	3	4	4	2	0	3	rs527823947		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr4:876523G>A	ENST00000314167.4	-	14	1599	c.1489C>T	c.(1489-1491)Cgg>Tgg	p.R497W	GAK_ENST00000511163.1_Missense_Mutation_p.R418W	NM_005255.2	NP_005246.2	O14976	GAK_HUMAN	cyclin G associated kinase	497	Phosphatase tensin-type. {ECO:0000255|PROSITE-ProRule:PRU00590}.				cell cycle (GO:0007049)|cell development (GO:0048468)|clathrin coat disassembly (GO:0072318)|clathrin-mediated endocytosis (GO:0072583)|endoplasmic reticulum organization (GO:0007029)|epidermal cell differentiation (GO:0009913)|establishment of skin barrier (GO:0061436)|forebrain morphogenesis (GO:0048853)|Golgi organization (GO:0007030)|intrahepatic bile duct development (GO:0035622)|positive regulation of neural precursor cell proliferation (GO:2000179)	cell junction (GO:0030054)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(16)|skin(7)|urinary_tract(2)	39				Colorectal(103;0.219)		TGGTCCTGCCGCAGCCAGGCG	0.612													G|||	1	0.000199681	0	0	5008	,	,		16569	0		0	False		,,,				2504	0.001					ENST00000314167.4																			0				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(16)|skin(7)|urinary_tract(2)	39						c.(1489-1491)Cgg>Tgg		cyclin G associated kinase							95	78	84					4																	876523		2203	4300	6503	SO:0001583	missense	2580				cell cycle	focal adhesion|Golgi apparatus|perinuclear region of cytoplasm	ATP binding|heat shock protein binding|protein serine/threonine kinase activity	g.chr4:876523G>A	D88435	CCDS3340.1	4p16	2011-09-07			ENSG00000178950	ENSG00000178950		"Heat shock proteins / DNAJ (HSP40)"	4113	protein-coding gene	gene with protein product	"auxilin-2"	602052				9299234	Standard	NM_005255		Approved	DNAJC26	uc003gbm.4	O14976	OTTHUMG00000088301	ENST00000314167.4:c.1489C>T	4.37:g.876523G>A	ENSP00000314499:p.Arg497Trp					GAK_ENST00000511163.1_Missense_Mutation_p.R418W	p.R497W	NM_005255.2	NP_005246.2	O14976	GAK_HUMAN		Colorectal(103;0.219)	14	1599	-			497			Phosphatase tensin-type.		Q5U4P5|Q9BVY6	Missense_Mutation	SNP	ENST00000314167.4	37	c.1489C>T	CCDS3340.1	.	.	.	.	.	.	.	.	.	.	G	17.01	3.278311	0.59758	.	.	ENSG00000178950	ENST00000314167;ENST00000511163	D;D	0.98617	-5.03;-5.03	5.2	0.838	0.18902	Phosphatase tensin type (1);	0.121633	0.53938	D	0.000047	D	0.98229	0.9414	L	0.47190	1.495	0.37724	D	0.925036	D;D;D;D	0.76494	0.999;0.997;0.997;0.998	D;P;P;P	0.63793	0.918;0.849;0.834;0.834	D	0.98055	1.0390	10	0.72032	D	0.01	-30.7578	14.3226	0.66496	0.0:0.0:0.2093:0.7907	.	418;418;497;393	Q5U4P5;E9PGR2;O14976;Q59HA5	.;.;GAK_HUMAN;.	W	497;418	ENSP00000314499:R497W;ENSP00000421361:R418W	ENSP00000314499:R497W	R	-	1	2	GAK	866523	1.000000	0.71417	0.847000	0.33407	0.467000	0.32768	3.720000	0.54933	-0.042000	0.13535	-0.169000	0.13324	CGG		0.612	GAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239188.1	NM_005255		8	90	0	0	0	1	0	8	90					A	876523	G	A	876523	3	1	305	1	0	0	0	0	1	0	0	0	6195	1086	38	1	2506	1	GAK	4	876523	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08		876523	190277753	255	14772											
RNF212	285498	broad.mit.edu	37	chr4	1067393	1067393	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacattttacttacccattcGtccatcttgaggtggactaa	10	14	7	10	1	1	1	0	1	1	0	3	3	2	2	2	2	2	0	2	2	3	6			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr4:1067393G>A	ENST00000433731.2	-	9	629	c.568C>T	c.(568-570)Cga>Tga	p.R190*	RNF212_ENST00000382968.5_Nonsense_Mutation_p.R190*			Q495C1	RN212_HUMAN	ring finger protein 212	190					chiasma assembly (GO:0051026)|meiotic gene conversion (GO:0006311)|protein sumoylation (GO:0016925)|reciprocal meiotic recombination (GO:0007131)	synaptonemal complex (GO:0000795)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1)	10			OV - Ovarian serous cystadenocarcinoma(23;0.0179)	UCEC - Uterine corpus endometrioid carcinoma (64;0.151)		TTACCCATTCGTCCATCTTGA	0.413											OREG0016028	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000382968.5																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1)	10						c.(568-570)Cga>Tga		ring finger protein 212							116	107	110					4																	1067393		2203	4300	6503	SO:0001587	stop_gained	285498						zinc ion binding	g.chr4:1067393G>A	AK096160	CCDS3345.1, CCDS46996.1, CCDS54704.1	4p16.3	2013-02-27	2007-01-19	2007-01-19	ENSG00000178222	ENSG00000178222		"RING-type (C3HC4) zinc fingers"	27729	protein-coding gene	gene with protein product		612041	"hypothetical protein LOC285498"	LOC285498		23396135	Standard	NM_001131034		Approved	FLJ38841	uc003gcj.3	Q495C1	OTTHUMG00000118997	ENST00000433731.2:c.568C>T	4.37:g.1067393G>A	ENSP00000389709:p.Arg190*		OREG0016028	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	593	RNF212_ENST00000433731.2_Nonsense_Mutation_p.R190*	p.R190*	NM_001131034.3|NM_194439.4	NP_001124506.1|NP_919420.1	Q495C1	RN212_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.0179)	UCEC - Uterine corpus endometrioid carcinoma (64;0.151)	9	665	-			190					C9J8N0|Q495C0|Q86W82|Q8IY99|Q8N8U7	Nonsense_Mutation	SNP	ENST00000433731.2	37	c.568C>T	CCDS46996.1	.	.	.	.	.	.	.	.	.	.	G	35	5.556999	0.96514	.	.	ENSG00000178222	ENST00000382968;ENST00000433731	.	.	.	3.96	3.11	0.35812	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	7.6028	0.28085	0.119:0.0:0.881:0.0	.	.	.	.	X	190	.	ENSP00000372428:R190X	R	-	1	2	RNF212	1057393	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	4.200000	0.58433	0.981000	0.38548	-0.136000	0.14681	CGA		0.413	RNF212-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000359124.2	NM_194439		14	36	0	0	0	1	0	14	36					A	1067393	G	A	1067393	4	1	305	1	0	0	0	0	0	1	0	0	13476	1153	40	1	333	1	RNF212	4	1067393	Nonsense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	190870	1067393	190086883	256	14773											
KIAA1530	57654	broad.mit.edu	37	chr4	1347003	1347003	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtctggcacccctgaccccCgggacggggagcagccctgc	5	4	15	17	2	1	1	0	1	1	0	1	3	1	3	5	5	3	2	5	5	0	0	rs144329202	byFrequency	TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr4:1347003C>T	ENST00000389851.4	+	5	1183	c.736C>T	c.(736-738)Cgg>Tgg	p.R246W	UVSSA_ENST00000507531.1_Missense_Mutation_p.R246W|UVSSA_ENST00000511216.1_Missense_Mutation_p.R246W	NM_020894.2	NP_065945.2	Q2YD98	UVSSA_HUMAN	UV-stimulated scaffold protein A	246					protein ubiquitination (GO:0016567)|response to UV (GO:0009411)|transcription-coupled nucleotide-excision repair (GO:0006283)	chromosome (GO:0005694)	RNA polymerase II core binding (GO:0000993)										CCCTGACCCCCGGGACGGGGA	0.706																																						ENST00000389851.4																			0											c.(736-738)Cgg>Tgg		UV-stimulated scaffold protein A		C	TRP/ARG	1,4355		0,1,2177	17	22	20		736	-2.7	0	4	dbSNP_134	20	5,8529		0,5,4262	yes	missense	KIAA1530	NM_020894.2	101	0,6,6439	TT,TC,CC		0.0586,0.023,0.0465	benign	246/710	1347003	6,12884	2178	4267	6445	SO:0001583	missense	57654							g.chr4:1347003C>T	BC021930	CCDS33938.1	4p16.3	2012-04-27	2012-04-27	2012-04-27		ENSG00000163945			29304	protein-coding gene	gene with protein product		614632	"KIAA1530"	KIAA1530		10819331, 22466610, 22466611, 22466612	Standard	NM_020894		Approved		uc003gde.4	Q2YD98		ENST00000389851.4:c.736C>T	4.37:g.1347003C>T	ENSP00000374501:p.Arg246Trp					UVSSA_ENST00000507531.1_Missense_Mutation_p.R246W|UVSSA_ENST00000511216.1_Missense_Mutation_p.R246W	p.R246W	NM_020894.2	NP_065945.2	Q2YD98	K1530_HUMAN			5	1183	+			246					A8K9E6|B2RU11|Q8WTX4|Q9P1Z8	Missense_Mutation	SNP	ENST00000389851.4	37	c.736C>T	CCDS33938.1	.	.	.	.	.	.	.	.	.	.	C	10.24	1.294733	0.23564	2.3E-4	5.86E-4	ENSG00000163945	ENST00000511216;ENST00000389851;ENST00000507531	T;T;T	0.31247	1.5;1.5;1.5	4.48	-2.68	0.06041	.	2.534460	0.00984	N	0.003434	T	0.17323	0.0416	N	0.14661	0.345	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.19418	-1.0306	10	0.52906	T	0.07	.	2.9912	0.05983	0.3952:0.3042:0.215:0.0856	.	246	Q2YD98	K1530_HUMAN	W	246	ENSP00000425130:R246W;ENSP00000374501:R246W;ENSP00000421741:R246W	ENSP00000374501:R246W	R	+	1	2	KIAA1530	1337003	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.613000	0.05610	-0.469000	0.06911	-1.094000	0.02160	CGG		0.706	UVSSA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359480.1	NM_020894		23	41	0	0	0	1	0	23	41					T	1347003	C	T	1347003	3	4	305	1	0	0	0	0	1	0	0	0	8241	643	23	2	750	2	KIAA1530	4	1347003	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	279610	1347003	189807273	257	14774											
WHSC2	7469	broad.mit.edu	37	chr4	1991465	1991465	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagctccgcccgcagcgtggCgctcttgggtttccgcttta	3	11	12	15	5	1	0	0	0	1	0	3	0	3	0	3	2	2	5	3	2	1	4			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr4:1991465C>T	ENST00000411638.2	-	3	529	c.514G>A	c.(514-516)Gcc>Acc	p.A172T	NELFA_ENST00000382882.3_Missense_Mutation_p.A183T|NELFA_ENST00000542778.1_Missense_Mutation_p.A37T	NM_005663.4	NP_005654.3	Q9H3P2	NELFA_HUMAN	negative elongation factor complex member A	172					gene expression (GO:0010467)|multicellular organismal development (GO:0007275)|negative regulation of transcription elongation from RNA polymerase II promoter (GO:0034244)|positive regulation of viral transcription (GO:0050434)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	cytoplasm (GO:0005737)|NELF complex (GO:0032021)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)	p.A172T(1)									CGCAGCGTGGCGCTCTTGGGT	0.572																																						ENST00000382882.3																			1	Substitution - Missense(1)	p.A172T(1)	large_intestine(1)								c.(547-549)Gcc>Acc		negative elongation factor complex member A							107	127	120					4																	1991465		2203	4300	6503	SO:0001583	missense	7469							g.chr4:1991465C>T	AF101434	CCDS3358.2	4p16.3	2013-01-31	2013-01-31	2013-01-31	ENSG00000185049	ENSG00000185049			12768	protein-coding gene	gene with protein product		606026	"Wolf-Hirschhorn syndrome candidate 2"	WHSC2		10409432	Standard	NM_005663		Approved	NELF-A	uc003gem.3	Q9H3P2	OTTHUMG00000089967	ENST00000411638.2:c.514G>A	4.37:g.1991465C>T	ENSP00000399165:p.Ala172Thr					NELFA_ENST00000542778.1_Missense_Mutation_p.A37T|NELFA_ENST00000411638.1_Missense_Mutation_p.A172T	p.A183T	NM_005663.4	NP_005654.3					3	1664	-								A2A2T1|O95392	Missense_Mutation	SNP	ENST00000411638.2	37	c.547G>A		.	.	.	.	.	.	.	.	.	.	C	37	6.041174	0.97226	.	.	ENSG00000185049	ENST00000382882;ENST00000416258;ENST00000542778;ENST00000411638;ENST00000431323;ENST00000455762	T;T;T;T;T	0.58506	1.48;0.33;0.38;1.48;1.48	4.96	4.96	0.65561	.	0.000000	0.85682	D	0.000000	T	0.77870	0.4195	M	0.79926	2.475	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	T	0.81132	-0.1072	10	0.62326	D	0.03	-25.6591	18.1998	0.89834	0.0:1.0:0.0:0.0	.	172	Q9H3P2	NELFA_HUMAN	T	183;176;37;172;188;102	ENSP00000372335:A183T;ENSP00000387647:A176T;ENSP00000445757:A37T;ENSP00000399165:A172T;ENSP00000395761:A188T	ENSP00000372335:A183T	A	-	1	0	WHSC2	1961263	1.000000	0.71417	0.988000	0.46212	0.992000	0.81027	7.692000	0.84203	2.306000	0.77630	0.609000	0.83330	GCC		0.572	NELFA-015	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000473007.1	NM_005663		78	240	0	0	0	1	0	78	240					T	1991465	C	T	1991465	3	4	305	1	0	0	0	0	1	0	0	0	17361	768	27	1	1108	1	WHSC2	4	1991465	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	644462	1991465	189162811	258	14775											
POLN	353497	broad.mit.edu	37	chr4	2129906	2129906	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggaataacttcagaagttccGgatctccagataaatgtgta	14	11	9	7	1	2	2	1	0	1	2	4	4	3	4	2	2	1	2	2	2	6	5	rs144575256		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr4:2129906G>A	ENST00000511885.2	-	19	2269	c.1916C>T	c.(1915-1917)cCg>cTg	p.P639L	POLN_ENST00000382865.1_Missense_Mutation_p.P639L			Q7Z5Q5	DPOLN_HUMAN	polymerase (DNA directed) nu	639					double-strand break repair via homologous recombination (GO:0000724)|interstrand cross-link repair (GO:0036297)|translesion synthesis (GO:0019985)	nucleus (GO:0005634)	cyclin binding (GO:0030332)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)			kidney(6)|large_intestine(5)|liver(1)|lung(8)|ovary(2)|skin(4)|urinary_tract(2)	28			OV - Ovarian serous cystadenocarcinoma(23;0.0955)			CAGAAGTTCCGGATCTCCAGA	0.363								DNA polymerases (catalytic subunits)					G|||	1	0.000199681	8e-04	0	5008	,	,		19210	0		0	False		,,,				2504	0					ENST00000511885.2																			0				kidney(6)|large_intestine(5)|liver(1)|lung(8)|ovary(2)|skin(4)|urinary_tract(2)	28						c.(1915-1917)cCg>cTg	DNA polymerases (catalytic subunits)	polymerase (DNA directed) nu		G	LEU/PRO	2,4404	4.2+/-10.8	0,2,2201	77	77	77		1916	5.2	1	4	dbSNP_134	77	0,8600		0,0,4300	yes	missense	POLN	NM_181808.2	98	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	probably-damaging	639/901	2129906	2,13004	2203	4300	6503	SO:0001583	missense	353497				DNA repair|DNA replication	nucleus	DNA binding|DNA-directed DNA polymerase activity	g.chr4:2129906G>A	AF044578	CCDS3360.1	4p16.3	2012-05-18			ENSG00000130997	ENSG00000130997		"DNA polymerases"	18870	protein-coding gene	gene with protein product		610887				12794064	Standard	NM_181808		Approved		uc003ger.2	Q7Z5Q5	OTTHUMG00000090081	ENST00000511885.2:c.1916C>T	4.37:g.2129906G>A	ENSP00000435506:p.Pro639Leu					POLN_ENST00000382865.1_Missense_Mutation_p.P639L	p.P639L			Q7Z5Q5	DPOLN_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.0955)		19	2269	-			639					A2A336|B4E158|Q4TTW4|Q6ZNF4	Missense_Mutation	SNP	ENST00000511885.2	37	c.1916C>T	CCDS3360.1	1|1	4.578754578754579E-4|4.578754578754579E-4	1|1	0.0020325203252032522|0.0020325203252032522	0|0	0.0|0.0	0|0	0.0|0.0	0|0	0.0|0.0	G|G	17.35|17.35	3.366741|3.366741	0.61513|0.61513	4.54E-4|4.54E-4	0.0|0.0	ENSG00000130997|ENSG00000130997	ENST00000511885;ENST00000382865;ENST00000253313;ENST00000382857|ENST00000511098	D;D|.	0.96685|.	-4.09;-4.09|.	5.19|5.19	5.19|5.19	0.71726|0.71726	DNA-directed DNA polymerase, family A, palm domain (2);|.	0.186561|.	0.47093|.	D|.	0.000245|.	T|T	0.80199|0.80199	0.4579|0.4579	M|M	0.88570|0.88570	2.965|2.965	0.58432|0.58432	D|D	0.999997|0.999997	D;D;D|.	0.76494|.	0.998;0.999;0.984|.	D;P;P|.	0.70016|.	0.967;0.896;0.794|.	T|T	0.83346|0.83346	-0.0005|-0.0005	10|5	0.72032|.	D|.	0.01|.	-11.5796|-11.5796	14.5632|14.5632	0.68156|0.68156	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	170;330;639|.	C9JDP8;E9PE06;Q7Z5Q5|.	.;.;DPOLN_HUMAN|.	L|W	639;639;330;170|272	ENSP00000435506:P639L;ENSP00000372316:P639L|.	ENSP00000253313:P330L|.	P|R	-|-	2|1	0|2	POLN|POLN	2099704|2099704	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	3.965000|3.965000	0.56788|0.56788	2.590000|2.590000	0.87494|0.87494	0.655000|0.655000	0.94253|0.94253	CCG|CGG		0.363	POLN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000205684.2	NM_181808		5	20	0	0	0	1	0	5	20					A	2129906	G	A	2129906	3	1	305	1	0	0	0	0	1	0	0	0	12207	1116	39	2	818	2	POLN	4	2129906	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	138441	2129906	189024370	259	14776											
HGFAC	3083	broad.mit.edu	37	chr4	3449905	3449905	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggccctggtccccctggtcGccgaccacaagtgcagcagc	7	5	12	17	2	0	0	0	0	0	0	2	1	1	0	5	3	3	2	5	3	1	0			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr4:3449905G>A	ENST00000382774.3	+	13	1802	c.1687G>A	c.(1687-1689)Gcc>Acc	p.A563T	HGFAC_ENST00000511533.1_Missense_Mutation_p.A570T	NM_001528.2	NP_001519.1	Q04756	HGFA_HUMAN	HGF activator	563	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				proteolysis (GO:0006508)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|rough endoplasmic reticulum (GO:0005791)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			central_nervous_system(3)|cervix(1)|endometrium(4)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	22				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)		CCCCCTGGTCGCCGACCACAA	0.657																																						ENST00000382774.3																			0				central_nervous_system(3)|cervix(1)|endometrium(4)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	22						c.(1687-1689)Gcc>Acc		HGF activator							28	25	26					4																	3449905		2194	4295	6489	SO:0001583	missense	3083				proteolysis	extracellular space	protein binding|serine-type endopeptidase activity	g.chr4:3449905G>A	D14012	CCDS3369.1, CCDS75098.1	4p16	2008-02-07			ENSG00000109758	ENSG00000109758	3.4.21.-		4894	protein-coding gene	gene with protein product		604552				7683665, 8226803	Standard	XM_005247966		Approved	HGFAP, HGFA	uc003ghc.3	Q04756	OTTHUMG00000090281	ENST00000382774.3:c.1687G>A	4.37:g.3449905G>A	ENSP00000372224:p.Ala563Thr					HGFAC_ENST00000511533.1_Missense_Mutation_p.A570T	p.A563T	NM_001528.2	NP_001519.1	Q04756	HGFA_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.163)	13	1802	+			563			Peptidase S1.		Q14726|Q2M1W7|Q53X47	Missense_Mutation	SNP	ENST00000382774.3	37	c.1687G>A	CCDS3369.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.022261	0.75275	.	.	ENSG00000109758	ENST00000382774;ENST00000511533	D;D	0.92595	-3.07;-3.07	4.54	3.64	0.41730	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.136660	0.49305	D	0.000141	D	0.89238	0.6658	N	0.17474	0.49	0.33165	D	0.547442	D;P	0.63046	0.992;0.559	P;B	0.55055	0.767;0.154	D	0.91242	0.5022	10	0.48119	T	0.1	.	12.4697	0.55779	0.0:0.2945:0.7055:0.0	.	570;563	D6RAR4;Q04756	.;HGFA_HUMAN	T	563;570	ENSP00000372224:A563T;ENSP00000421801:A570T	ENSP00000372224:A563T	A	+	1	0	HGFAC	3419703	0.002000	0.14202	0.274000	0.24659	0.746000	0.42486	0.277000	0.18734	2.085000	0.62840	0.563000	0.77884	GCC		0.657	HGFAC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206607.3			8	8	0	0	0	1	0	8	8					A	3449905	G	A	3449905	3	1	305	1	0	0	0	0	1	0	0	0	7086	1087	38	1	1737	1	HGFAC	4	3449905	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	1319999	3449905	187704371	260	14777											
TBC1D14	57533	broad.mit.edu	37	chr4	6925751	6925751	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagctctatcaaggaaacccGtggcttacaccagcaggact	12	7	10	12	1	2	0	1	0	1	0	2	3	2	2	2	3	4	3	2	3	4	2	rs374524981		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr4:6925751G>A	ENST00000409757.4	+	2	759	c.635G>A	c.(634-636)cGt>cAt	p.R212H	TBC1D14_ENST00000448507.1_Missense_Mutation_p.R212H	NM_020773.2	NP_065824.2	Q9P2M4	TBC14_HUMAN	TBC1 domain family, member 14	212					negative regulation of autophagy (GO:0010507)|recycling endosome to Golgi transport (GO:0071955)|regulation of autophagic vacuole assembly (GO:2000785)	autophagic vacuole (GO:0005776)|Golgi apparatus (GO:0005794)|recycling endosome (GO:0055037)	protein kinase binding (GO:0019901)|Rab GTPase activator activity (GO:0005097)			breast(1)|endometrium(5)|large_intestine(4)|lung(9)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	22						AAGGAAACCCGTGGCTTACAC	0.483																																						ENST00000409757.4																			0				breast(1)|endometrium(5)|large_intestine(4)|lung(9)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	22						c.(634-636)cGt>cAt		TBC1 domain family, member 14		G	HIS/ARG,HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	54	46	49		635,635	0.3	0	4		49	0,8600		0,0,4300	no	missense,missense	TBC1D14	NM_020773.2,NM_001113361.1	29,29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign,benign	212/694,212/694	6925751	1,13005	2203	4300	6503	SO:0001583	missense	57533					intracellular	Rab GTPase activator activity	g.chr4:6925751G>A	AL833868	CCDS3394.2, CCDS47006.1, CCDS75104.1	4p16.1	2008-01-22			ENSG00000132405	ENSG00000132405			29246	protein-coding gene	gene with protein product		614855				10718198	Standard	NM_020773		Approved	KIAA1322	uc003gjs.4	Q9P2M4	OTTHUMG00000090493	ENST00000409757.4:c.635G>A	4.37:g.6925751G>A	ENSP00000386921:p.Arg212His					TBC1D14_ENST00000448507.1_Missense_Mutation_p.R212H	p.R212H	NM_020773.2	NP_065824.2	Q9P2M4	TBC14_HUMAN			2	759	+			212					B9A6L5|D3DVT4|E9PAZ6|Q8IW15|Q8NDK3	Missense_Mutation	SNP	ENST00000409757.4	37	c.635G>A	CCDS3394.2	.	.	.	.	.	.	.	.	.	.	G	8.957	0.969509	0.18659	2.27E-4	0.0	ENSG00000132405	ENST00000448507;ENST00000409757	T;T	0.04317	3.65;3.65	4.11	0.26	0.15588	.	0.601605	0.16567	N	0.208819	T	0.02688	0.0081	N	0.22421	0.69	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.45396	-0.9264	9	.	.	.	4.0491	2.9193	0.05764	0.156:0.2578:0.4539:0.1324	.	212	Q9P2M4	TBC14_HUMAN	H	212	ENSP00000404041:R212H;ENSP00000386921:R212H	.	R	+	2	0	TBC1D14	6976652	0.000000	0.05858	0.000000	0.03702	0.290000	0.27261	-1.168000	0.03123	-0.187000	0.10516	-0.282000	0.10007	CGT		0.483	TBC1D14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206981.3	NM_020773		17	30	0	0	0	1	0	17	30					A	6925751	G	A	6925751	3	1	305	1	0	0	0	0	1	0	0	0	15600	1145	40	1	637	1	TBC1D14	4	6925751	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	3475846	6925751	184228525	261	14778											
ZNF518B	85460	broad.mit.edu	37	chr4	10445201	10445202	+	Frame_Shift_Ins	INS	-	-	A																															cttagttgccttgcaacctgINSaaaaattgaaggatccttga																										TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr4:10445201_10445202insA	ENST00000326756.3	-	3	3189_3190	c.2751_2752insT	c.(2749-2754)tttcagfs	p.Q918fs		NM_053042.2	NP_444270.2	Q9C0D4	Z518B_HUMAN	zinc finger protein 518B	918					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	42						CTTGCAACCTGAAAAATTGAAG	0.411																																						ENST00000326756.3																			0				breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	42						c.(2749-2754)ttaggtfs		zinc finger protein 518B																																				SO:0001589	frameshift_variant	85460				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr4:10445201_10445202insA	AB051516	CCDS33960.1	4p16.1	2007-12-07				ENSG00000178163		"Zinc fingers, C2H2-type"	29365	protein-coding gene	gene with protein product						11214970	Standard	XM_005248193		Approved	KIAA1729	uc003gmn.3	Q9C0D4		ENST00000326756.3:c.2752dupT	4.37:g.10445206_10445206dupA	ENSP00000317614:p.Gln918fs						p.LG917fs	NM_053042.2	NP_444270.2	Q9C0D4	Z518B_HUMAN			3	3189_3190	-			917					Q96LN8	Frame_Shift_Ins	INS	ENST00000326756.3	37	c.2751_2752insT	CCDS33960.1																																																																																				0.411	ZNF518B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359040.1	NM_053042		15	157						15	157	---	---	---	---	A	10445202	-	A	10445201	7	5	305	1	0	1	1	0	0	0	0	0	17960	1299	45	0	476	0	ZNF518B	4	10445201	Frame_Shift_Ins	INS	-	TCGA-KK-A59V-01A-11D-A29Q-08	3519450	10445201	180709075	262	14779											
PCDH7	5099	broad.mit.edu	37	chr4	30723339	30723339	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accgcgagaagctgccccagTgtcagatgatcttcgacgag	10	7	12	12	4	2	3	1	1	1	2	3	6	2	3	3	0	2	1	3	0	1	1			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr4:30723339T>A	ENST00000361762.2	+	1	1303	c.295T>A	c.(295-297)Tgt>Agt	p.C99S	PCDH7_ENST00000543491.1_Missense_Mutation_p.C99S	NM_002589.2	NP_002580.2	O60245	PCDH7_HUMAN	protocadherin 7	99	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(8)|liver(1)|lung(26)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	55						GCTGCCCCAGTGTCAGATGAT	0.602																																						ENST00000361762.2																			0				NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(8)|liver(1)|lung(26)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	55						c.(295-297)Tgt>Agt		protocadherin 7							82	65	71					4																	30723339		2203	4300	6503	SO:0001583	missense	5099				homophilic cell adhesion	integral to plasma membrane	calcium ion binding	g.chr4:30723339T>A	AB006755	CCDS33971.1, CCDS75116.1	4p15	2014-06-13	2007-02-12			ENSG00000169851		"Cadherins / Protocadherins : Non-clustered"	8659	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 120"	602988	"BH-protocadherin (brain-heart)"			9615233	Standard	NM_002589		Approved	BH-Pcdh, PPP1R120	uc021xnd.1	O60245		ENST00000361762.2:c.295T>A	4.37:g.30723339T>A	ENSP00000355243:p.Cys99Ser					PCDH7_ENST00000543491.1_Missense_Mutation_p.C99S	p.C99S	NM_002589.2	NP_002580.2	O60245	PCDH7_HUMAN			1	1303	+			99			Cadherin 1.		O60246|O60247|Q4W5C4	Missense_Mutation	SNP	ENST00000361762.2	37	c.295T>A	CCDS33971.1	.	.	.	.	.	.	.	.	.	.	T	17.60	3.429529	0.62844	.	.	ENSG00000169851	ENST00000361762;ENST00000543491;ENST00000333135	T;T	0.55413	0.52;0.52	4.99	4.99	0.66335	Cadherin, N-terminal (1);Cadherin (3);	.	.	.	.	T	0.80628	0.4659	H	0.96015	3.755	0.46725	D	0.999173	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	D	0.86194	0.1614	9	0.54805	T	0.06	.	14.5159	0.67818	0.0:0.0:0.0:1.0	.	99;99;99	F5GWJ1;O60245-3;O60245	.;.;PCDH7_HUMAN	S	99	ENSP00000355243:C99S;ENSP00000441802:C99S	ENSP00000330302:C99S	C	+	1	0	PCDH7	30332437	1.000000	0.71417	1.000000	0.80357	0.923000	0.55619	5.923000	0.70045	2.095000	0.63458	0.374000	0.22700	TGT		0.602	PCDH7-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000360366.1	NM_032457, NM_002589		14	23	0	0	0	1	0	14	23					A	30723339	T	A	30723339	3	1	305	1	0	0	0	0	1	0	0	0	11516	1696	59	5	297	5	PCDH7	4	30723339	Missense_Mutation	SNP	T	TCGA-KK-A59V-01A-11D-A29Q-08	20278138	30723339	160430937	263	14780											
PGM2	55276	broad.mit.edu	37	chr4	37831682	37831682	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cccgaatggagtttgggacaGctggcctccgagctgctatg	7	9	14	11	2	0	0	0	0	0	0	1	4	1	2	3	3	3	4	3	3	2	2			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr4:37831682G>A	ENST00000381967.4	+	2	278	c.178G>A	c.(178-180)Gct>Act	p.A60T	PGM2_ENST00000544359.1_De_novo_Start_OutOfFrame|PGM2_ENST00000537241.1_De_novo_Start_OutOfFrame	NM_018290.3	NP_060760.2	Q96G03	PGM2_HUMAN	phosphoglucomutase 2	60					carbohydrate metabolic process (GO:0005975)|deoxyribose phosphate catabolic process (GO:0046386)|galactose catabolic process (GO:0019388)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|glycogen catabolic process (GO:0005980)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	magnesium ion binding (GO:0000287)|phosphoglucomutase activity (GO:0004614)|phosphopentomutase activity (GO:0008973)			breast(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(2)|urinary_tract(1)	19						GTTTGGGACAGCTGGCCTCCG	0.423																																						ENST00000537241.1																			0				breast(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(2)|urinary_tract(1)	19								phosphoglucomutase 2							79	82	81					4																	37831682		2203	4300	6503	SO:0001583	missense	55276				glucose 1-phosphate metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol	magnesium ion binding|phosphoglucomutase activity|phosphopentomutase activity	g.chr4:37831682G>A	BC010087	CCDS3443.1	4p14	2012-10-02			ENSG00000169299	ENSG00000169299	5.4.2.2		8906	protein-coding gene	gene with protein product	"phosphopentomutase"	172000				9549096	Standard	NM_018290		Approved	FLJ10983	uc011byb.1	Q96G03	OTTHUMG00000097813	ENST00000381967.4:c.178G>A	4.37:g.37831682G>A	ENSP00000371393:p.Ala60Thr					PGM2_ENST00000544359.1_De_novo_Start_OutOfFrame|PGM2_ENST00000381967.4_Missense_Mutation_p.A60T				Q96G03	PGM2_HUMAN			0	190	+								B4E0G8|Q53FP5|Q5QTR0|Q9H0P9|Q9NV22	Translation_Start_Site	SNP	ENST00000381967.4	37		CCDS3443.1	.	.	.	.	.	.	.	.	.	.	G	23.3	4.405371	0.83230	.	.	ENSG00000169299	ENST00000381967	T	0.65364	-0.15	5.64	4.8	0.61643	Alpha-D-phosphohexomutase, alpha/beta/alpha domain I (1);Alpha-D-phosphohexomutase, alpha/beta/alpha I/II/III (2);	0.050692	0.85682	N	0.000000	D	0.84911	0.5577	H	0.96111	3.77	0.80722	D	1	D	0.76494	0.999	D	0.77557	0.99	D	0.89072	0.3470	10	0.56958	D	0.05	-15.4726	14.3935	0.66996	0.0717:0.0:0.9283:0.0	.	60	Q96G03	PGM2_HUMAN	T	60	ENSP00000371393:A60T	ENSP00000371393:A60T	A	+	1	0	PGM2	37508077	1.000000	0.71417	1.000000	0.80357	0.537000	0.34900	9.364000	0.97136	1.378000	0.46305	0.650000	0.86243	GCT		0.423	PGM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215079.2	NM_018290		16	38	0	0	0	1	0	16	38					A	37831682	G	A	37831682	3	1	305	1	0	0	0	0	1	0	0	0	11798	971	34	3	184	3	PGM2	4	37831682	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	7108343	37831682	153322594	264	14781											
PDS5A	23244	broad.mit.edu	37	chr4	39878622	39878623	+	Frame_Shift_Ins	INS	-	-	G																															atgtactcacgatcgtatctINSggggaaggtctgtttctatt																										TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr4:39878622_39878623insG	ENST00000303538.8	-	19	2682_2683	c.2143_2144insC	c.(2143-2145)cagfs	p.Q715fs		NM_001100399.1	NP_001093869.1			PDS5, regulator of cohesion maintenance, homolog A (S. cerevisiae)											breast(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(9)|lung(14)|prostate(3)|skin(1)|urinary_tract(1)	39						CGATCGTATCTGGGGAAGGTCT	0.381																																						ENST00000303538.8																			0				breast(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(9)|lung(14)|prostate(3)|skin(1)|urinary_tract(1)	39						c.(2143-2145)gatfs		PDS5, regulator of cohesion maintenance, homolog A (S. cerevisiae)																																				SO:0001589	frameshift_variant	23244				cell division|mitosis|negative regulation of DNA replication	chromatin|nucleus	identical protein binding	g.chr4:39878622_39878623insG	AF294791	CCDS47045.1, CCDS54759.1	4p14	2007-06-20			ENSG00000121892	ENSG00000121892			29088	protein-coding gene	gene with protein product		613200				11076961, 15855230	Standard	NM_001100399		Approved	KIAA0648, PIG54, SCC-112	uc003guv.4	Q29RF7	OTTHUMG00000160582	ENST00000303538.8:c.2144dupC	4.37:g.39878626_39878626dupG	ENSP00000303427:p.Gln715fs						p.D715fs	NM_001100399.1	NP_001093869.1	Q29RF7	PDS5A_HUMAN			19	2682_2683	-			715						Frame_Shift_Ins	INS	ENST00000303538.8	37	c.2143_2144insC	CCDS47045.1																																																																																				0.381	PDS5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361287.1	NM_015200		16	46						16	46	---	---	---	---	G	39878623	-	G	39878622	7	5	305	1	0	1	1	0	0	0	0	0	11691	1580	55	0	1929	0	PDS5A	4	39878622	Frame_Shift_Ins	INS	-	TCGA-KK-A59V-01A-11D-A29Q-08	2046940	39878622	151275654	265	14782											
APBB2	323	broad.mit.edu	37	chr4	40946968	40946968	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgctgggatggagacgggccGttcccactgagtcgttcctg	5	10	15	11	3	0	2	0	1	0	1	3	4	2	3	3	3	1	3	3	3	0	2	rs538682911		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr4:40946968G>A	ENST00000295974.8	-	7	1584	c.955C>T	c.(955-957)Cgg>Tgg	p.R319W	APBB2_ENST00000513140.1_Missense_Mutation_p.R319W|APBB2_ENST00000508593.1_Missense_Mutation_p.R320W|APBB2_ENST00000506352.1_Missense_Mutation_p.R319W	NM_001166050.1|NM_004307.1	NP_001159522.1|NP_004298.1	Q92870	APBB2_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 2	319	WW. {ECO:0000255|PROSITE- ProRule:PRU00224}.				axon guidance (GO:0007411)|cell cycle arrest (GO:0007050)|extracellular matrix organization (GO:0030198)|intracellular signal transduction (GO:0035556)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|neuron migration (GO:0001764)|positive regulation of apoptotic process (GO:0043065)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|membrane (GO:0016020)|nucleus (GO:0005634)|synapse (GO:0045202)	beta-amyloid binding (GO:0001540)|transcription factor binding (GO:0008134)			central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(3)|skin(2)|urinary_tract(1)	34						GAGACGGGCCGTTCCCACTGA	0.527																																					Ovarian(3;20 75 16686 49997)	ENST00000295974.8																			0				central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(3)|skin(2)|urinary_tract(1)	34						c.(955-957)Cgg>Tgg		amyloid beta (A4) precursor protein-binding, family B, member 2							105	108	107					4																	40946968		1980	4178	6158	SO:0001583	missense	323				cell cycle arrest|intracellular signal transduction|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|regulation of transcription, DNA-dependent	growth cone|lamellipodium|membrane|nucleus|synapse	beta-amyloid binding|transcription factor binding	g.chr4:40946968G>A	U62325	CCDS43224.1, CCDS54760.1, CCDS54761.1, CCDS54762.1	4p13	2011-10-10	2008-07-31		ENSG00000163697	ENSG00000163697			582	protein-coding gene	gene with protein product	"Fe65-like"	602710				8955346, 9585438	Standard	NM_173075		Approved	FE65L, FE65L1, MGC35575	uc003gvn.3	Q92870	OTTHUMG00000160416	ENST00000295974.8:c.955C>T	4.37:g.40946968G>A	ENSP00000295974:p.Arg319Trp					APBB2_ENST00000508593.1_Missense_Mutation_p.R320W|APBB2_ENST00000513140.1_Missense_Mutation_p.R319W|APBB2_ENST00000506352.1_Missense_Mutation_p.R319W	p.R319W	NM_001166050.1|NM_004307.1	NP_001159522.1|NP_004298.1	Q92870	APBB2_HUMAN			7	1584	-			319			WW.		B4DSL4|E9PG87|Q8IUI6	Missense_Mutation	SNP	ENST00000295974.8	37	c.955C>T	CCDS54761.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.34|16.34	3.097130|3.097130	0.56075|0.56075	.|.	.|.	ENSG00000163697|ENSG00000163697	ENST00000295974;ENST00000316212;ENST00000513140;ENST00000508593;ENST00000506352|ENST00000513611	D;D;D;D|.	0.84370|.	-1.84;-1.84;-1.84;-1.84|.	5.82|5.82	5.82|5.82	0.92795|0.92795	WW/Rsp5/WWP (6);|.	0.051195|.	0.85682|.	D|.	0.000000|.	T|T	0.72724|0.72724	0.3496|0.3496	L|L	0.55481|0.55481	1.735|1.735	0.80722|0.80722	D|D	1|1	D;D;D;D|.	0.89917|.	1.0;1.0;0.998;1.0|.	D;D;D;D|.	0.87578|.	0.998;0.996;0.944;0.996|.	T|T	0.67921|0.67921	-0.5545|-0.5545	10|5	0.72032|.	D|.	0.01|.	-14.6125|-14.6125	20.0853|20.0853	0.97797|0.97797	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	302;320;319;319|.	B4DJ88;E9PG87;Q92870-2;Q92870|.	.;.;.;APBB2_HUMAN|.	W|M	319;318;319;320;319|309	ENSP00000295974:R319W;ENSP00000426018:R319W;ENSP00000427211:R320W;ENSP00000421539:R319W|.	ENSP00000295974:R319W|.	R|T	-|-	1|2	2|0	APBB2|APBB2	40641725|40641725	1.000000|1.000000	0.71417|0.71417	0.958000|0.958000	0.39756|0.39756	0.332000|0.332000	0.28634|0.28634	3.791000|3.791000	0.55469|0.55469	2.761000|2.761000	0.94854|0.94854	0.591000|0.591000	0.81541|0.81541	CGG|ACG		0.527	APBB2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000360523.3	NM_173075		22	84	0	0	0	1	0	22	84					A	40946968	G	A	40946968	3	1	305	1	0	0	0	0	1	0	0	0	761	1144	40	1	1369	1	APBB2	4	40946968	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	1068346	40946968	150207308	266	14783											
LIMCH1	22998	broad.mit.edu	37	chr4	41608016	41608016	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aaggattgttggctcagatgCgaaaggtaacttggcttttc	10	13	12	6	1	1	1	1	0	0	1	2	3	1	2	0	4	2	4	0	4	3	6			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr4:41608016C>T	ENST00000313860.7	+	6	535	c.481C>T	c.(481-483)Cga>Tga	p.R161*	LIMCH1_ENST00000513024.1_Nonsense_Mutation_p.R2*|LIMCH1_ENST00000509638.1_Nonsense_Mutation_p.R2*|LIMCH1_ENST00000508501.1_Nonsense_Mutation_p.R161*|LIMCH1_ENST00000512632.1_Nonsense_Mutation_p.R161*|LIMCH1_ENST00000511496.1_Nonsense_Mutation_p.R2*|LIMCH1_ENST00000512820.1_Nonsense_Mutation_p.R161*|LIMCH1_ENST00000512946.1_Nonsense_Mutation_p.R161*|LIMCH1_ENST00000503057.1_Nonsense_Mutation_p.R2*	NM_014988.2	NP_055803.2	Q9UPQ0	LIMC1_HUMAN	LIM and calponin homology domains 1	161					actomyosin structure organization (GO:0031032)		zinc ion binding (GO:0008270)	p.R2*(1)|p.R161*(1)		central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(5)	41						GGCTCAGATGCGAAAGGTAAC	0.428																																						ENST00000313860.7																			2	Substitution - Nonsense(2)	p.R2*(1)|p.R161*(1)	large_intestine(2)	central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(5)	41						c.(481-483)Cga>Tga		LIM and calponin homology domains 1							146	125	132					4																	41608016		2203	4300	6503	SO:0001587	stop_gained	22998				actomyosin structure organization		actin binding|zinc ion binding	g.chr4:41608016C>T	AB029025	CCDS33977.1, CCDS47047.1, CCDS54763.1, CCDS54764.1, CCDS54765.1, CCDS75119.1, CCDS75121.1	4p13	2007-06-14		2008-01-09	ENSG00000064042	ENSG00000064042			29191	protein-coding gene	gene with protein product						10470851	Standard	XM_005248057		Approved	DKFZP686A01247, LIMCH1A, LMO7B	uc003gvz.4	Q9UPQ0	OTTHUMG00000160575	ENST00000313860.7:c.481C>T	4.37:g.41608016C>T	ENSP00000316891:p.Arg161*					LIMCH1_ENST00000512820.1_Nonsense_Mutation_p.R161*|LIMCH1_ENST00000512632.1_Nonsense_Mutation_p.R161*|LIMCH1_ENST00000512946.1_Nonsense_Mutation_p.R161*|LIMCH1_ENST00000508501.1_Nonsense_Mutation_p.R161*|LIMCH1_ENST00000513024.1_Nonsense_Mutation_p.R2*|LIMCH1_ENST00000511496.1_Nonsense_Mutation_p.R2*|LIMCH1_ENST00000509638.1_Nonsense_Mutation_p.R2*|LIMCH1_ENST00000503057.1_Nonsense_Mutation_p.R2*	p.R161*	NM_014988.2	NP_055803.2	Q9UPQ0	LIMC1_HUMAN			6	535	+			161					A8MXC3|E9PHM7|Q503B5|Q5CZB1|Q5CZB6|Q5H9S8|Q68E07|Q6PJ44|Q7Z3G5|Q8N3S9|Q8N6M2	Nonsense_Mutation	SNP	ENST00000313860.7	37	c.481C>T	CCDS33977.1	.	.	.	.	.	.	.	.	.	.	C	32	5.159468	0.94686	.	.	ENSG00000064042	ENST00000513024;ENST00000509638;ENST00000508501;ENST00000512946;ENST00000313860;ENST00000512632;ENST00000512820;ENST00000511424;ENST00000446625;ENST00000503057;ENST00000511496	.	.	.	5.56	1.35	0.21983	.	0.782162	0.11683	N	0.539644	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.12766	T	0.61	.	14.8368	0.70190	0.5563:0.4437:0.0:0.0	.	.	.	.	X	2;2;161;161;161;161;161;2;2;2;2	.	ENSP00000316891:R161X	R	+	1	2	LIMCH1	41302773	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	1.605000	0.36815	0.333000	0.23563	-0.262000	0.10625	CGA		0.428	LIMCH1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000361249.2	NM_014988		18	37	0	0	0	1	0	18	37					T	41608016	C	T	41608016	4	4	305	1	0	0	0	0	0	1	0	0	8797	760	27	1	503	1	LIMCH1	4	41608016	Nonsense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	661048	41608016	149546260	267	14784											
LRRC66	339977	broad.mit.edu	37	chr4	52860732	52860732	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aatcataagtgaacatgcccGgaaactcatcccctaaggga	15	7	8	11	1	2	1	2	1	0	0	3	3	3	3	3	2	3	0	3	2	5	2	rs543351323	byFrequency	TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr4:52860732G>A	ENST00000343457.3	-	4	2462	c.2456C>T	c.(2455-2457)cCg>cTg	p.P819L		NM_001024611.1	NP_001019782.1	Q68CR7	LRC66_HUMAN	leucine rich repeat containing 66	819						integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(8)|lung(34)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	58						GAACATGCCCGGAAACTCATC	0.463													G|||	5	0.000998403	0	0	5008	,	,		18476	0		0	False		,,,				2504	0.0051					ENST00000343457.3																			0				central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(8)|lung(34)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	58						c.(2455-2457)cCg>cTg		leucine rich repeat containing 66							65	67	66					4																	52860732		1885	4114	5999	SO:0001583	missense	339977					integral to membrane		g.chr4:52860732G>A	BC040414	CCDS43229.1	4q12	2008-08-08			ENSG00000188993	ENSG00000188993			34299	protein-coding gene	gene with protein product							Standard	XM_005265739		Approved		uc003gzi.3	Q68CR7	OTTHUMG00000160623	ENST00000343457.3:c.2456C>T	4.37:g.52860732G>A	ENSP00000341944:p.Pro819Leu						p.P819L	NM_001024611.1	NP_001019782.1	Q68CR7	LRC66_HUMAN			4	2462	-			819						Missense_Mutation	SNP	ENST00000343457.3	37	c.2456C>T	CCDS43229.1	.	.	.	.	.	.	.	.	.	.	G	1.908	-0.451422	0.04572	.	.	ENSG00000188993	ENST00000343457	T	0.33216	1.42	4.67	1.01	0.19927	.	0.968471	0.08482	N	0.939308	T	0.17066	0.0410	N	0.16656	0.425	0.09310	N	1	B	0.20550	0.046	B	0.13407	0.009	T	0.33163	-0.9879	10	0.18276	T	0.48	-0.8776	7.5126	0.27583	0.3337:0.0:0.6663:0.0	.	819	Q68CR7	LRC66_HUMAN	L	819	ENSP00000341944:P819L	ENSP00000341944:P819L	P	-	2	0	LRRC66	52555489	0.001000	0.12720	0.000000	0.03702	0.000000	0.00434	0.670000	0.25157	0.038000	0.15604	-1.556000	0.00890	CCG		0.463	LRRC66-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361473.1	NM_001024611		15	40	0	0	0	1	0	15	40					A	52860732	G	A	52860732	3	1	305	1	0	0	0	0	1	0	0	0	9018	1116	39	2	190	2	LRRC66	4	52860732	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	11252716	52860732	138293544	268	14785											
PDGFRA	5156	broad.mit.edu	37	chr4	55127503	55127503	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcggcggcccacacagggttGtacacttgctattacaacca	10	9	9	13	2	0	0	0	0	0	0	1	0	0	0	2	3	4	3	2	3	4	5			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr4:55127503G>A	ENST00000257290.5	+	3	622	c.291G>A	c.(289-291)ttG>ttA	p.L97L	PDGFRA_ENST00000508170.1_Silent_p.L97L|FIP1L1_ENST00000507166.1_Intron	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor, alpha polypeptide	97	Ig-like C2-type 1.				adrenal gland development (GO:0030325)|cardiac myofibril assembly (GO:0055003)|cell activation (GO:0001775)|cell chemotaxis (GO:0060326)|cellular response to amino acid stimulus (GO:0071230)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic skeletal system morphogenesis (GO:0048704)|epidermal growth factor receptor signaling pathway (GO:0007173)|estrogen metabolic process (GO:0008210)|extracellular matrix organization (GO:0030198)|face morphogenesis (GO:0060325)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hematopoietic progenitor cell differentiation (GO:0002244)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|Leydig cell differentiation (GO:0033327)|lung development (GO:0030324)|luteinization (GO:0001553)|male genitalia development (GO:0030539)|metanephric glomerular capillary formation (GO:0072277)|negative regulation of platelet activation (GO:0010544)|neurotrophin TRK receptor signaling pathway (GO:0048011)|odontogenesis of dentin-containing tooth (GO:0042475)|palate development (GO:0060021)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet aggregation (GO:0070527)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|platelet-derived growth factor receptor-alpha signaling pathway (GO:0035790)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell proliferation by VEGF-activated platelet derived growth factor receptor signaling pathway (GO:0038091)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of DNA replication (GO:0045740)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|protein autophosphorylation (GO:0046777)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of chemotaxis (GO:0050920)|regulation of mesenchymal stem cell differentiation (GO:2000739)|retina vasculature development in camera-type eye (GO:0061298)|signal transduction involved in regulation of gene expression (GO:0023019)|viral process (GO:0016032)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|membrane (GO:0016020)|microvillus (GO:0005902)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|platelet-derived growth factor alpha-receptor activity (GO:0005018)|platelet-derived growth factor binding (GO:0048407)|platelet-derived growth factor receptor binding (GO:0005161)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor binding (GO:0038085)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sunitinib(DB01268)	ACACAGGGTTGTACACTTGCT	0.502			"Mis, O, T"	FIP1L1	"GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)																											Pancreas(151;208 1913 7310 23853 37092)	ENST00000257290.5				Dom	yes		4	4q11-q13	5156	"Mis, O, T"	"platelet-derived growth factor, alpha-receptor"			"L, M, O"	FIP1L1		"GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"		0				NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967						c.(289-291)ttG>ttA		platelet-derived growth factor receptor, alpha polypeptide	Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)						183	186	185					4																	55127503		2203	4300	6503	SO:0001819	synonymous_variant	5156	Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	Familial Cancer Database	Sporadic Multiple GIST;Familial Intestinal Stromal Tumors, NF3B, subset of Familial GIST,	cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity	g.chr4:55127503G>A	D50001	CCDS3495.1	4q12	2014-09-17			ENSG00000134853	ENSG00000134853		"CD molecules", "Immunoglobulin superfamily / I-set domain containing"	8803	protein-coding gene	gene with protein product		173490					Standard	NM_006206		Approved	CD140a, PDGFR2	uc003han.4	P16234	OTTHUMG00000128699	ENST00000257290.5:c.291G>A	4.37:g.55127503G>A		TSP Lung(21;0.16)				PDGFRA_ENST00000508170.1_Silent_p.L97L|FIP1L1_ENST00000507166.1_Intron	p.L97L	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		3	622	+	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		97			Ig-like C2-type 1.		B2RE69|E9PBH0|Q6P4H5|Q96KZ7|Q9UD28	Silent	SNP	ENST00000257290.5	37	c.291G>A	CCDS3495.1																																																																																				0.502	PDGFRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250598.2	NM_006206		5	303	0	0	0	1	0	5	303					A	55127503	G	A	55127503	2	1	305	1	0	0	0	0	0	0	0	1	11661	1368	48	3		3	PDGFRA	4	55127503	Silent	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	2266771	55127503	136026773	269	14786											
PDGFRA	5156	broad.mit.edu	37	chr4	55140716	55140716	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agccctgcgttctgaactcaCggtggctgctgcagtcctgg	5	10	13	13	2	2	1	1	1	1	0	3	1	3	1	2	3	5	4	2	3	1	1			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr4:55140716C>T	ENST00000257290.5	+	11	1908	c.1577C>T	c.(1576-1578)aCg>aTg	p.T526M	FIP1L1_ENST00000507166.1_Intron	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor, alpha polypeptide	526					adrenal gland development (GO:0030325)|cardiac myofibril assembly (GO:0055003)|cell activation (GO:0001775)|cell chemotaxis (GO:0060326)|cellular response to amino acid stimulus (GO:0071230)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic skeletal system morphogenesis (GO:0048704)|epidermal growth factor receptor signaling pathway (GO:0007173)|estrogen metabolic process (GO:0008210)|extracellular matrix organization (GO:0030198)|face morphogenesis (GO:0060325)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hematopoietic progenitor cell differentiation (GO:0002244)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|Leydig cell differentiation (GO:0033327)|lung development (GO:0030324)|luteinization (GO:0001553)|male genitalia development (GO:0030539)|metanephric glomerular capillary formation (GO:0072277)|negative regulation of platelet activation (GO:0010544)|neurotrophin TRK receptor signaling pathway (GO:0048011)|odontogenesis of dentin-containing tooth (GO:0042475)|palate development (GO:0060021)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet aggregation (GO:0070527)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|platelet-derived growth factor receptor-alpha signaling pathway (GO:0035790)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell proliferation by VEGF-activated platelet derived growth factor receptor signaling pathway (GO:0038091)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of DNA replication (GO:0045740)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|protein autophosphorylation (GO:0046777)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of chemotaxis (GO:0050920)|regulation of mesenchymal stem cell differentiation (GO:2000739)|retina vasculature development in camera-type eye (GO:0061298)|signal transduction involved in regulation of gene expression (GO:0023019)|viral process (GO:0016032)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|membrane (GO:0016020)|microvillus (GO:0005902)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|platelet-derived growth factor alpha-receptor activity (GO:0005018)|platelet-derived growth factor binding (GO:0048407)|platelet-derived growth factor receptor binding (GO:0005161)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor binding (GO:0038085)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sunitinib(DB01268)	TCTGAACTCACGGTGGCTGCT	0.478			"Mis, O, T"	FIP1L1	"GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)																											Pancreas(151;208 1913 7310 23853 37092)	ENST00000257290.5				Dom	yes		4	4q11-q13	5156	"Mis, O, T"	"platelet-derived growth factor, alpha-receptor"			"L, M, O"	FIP1L1		"GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"		0				NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967						c.(1576-1578)aCg>aTg		platelet-derived growth factor receptor, alpha polypeptide	Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)						174	156	162					4																	55140716		2203	4300	6503	SO:0001583	missense	5156	Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	Familial Cancer Database	Sporadic Multiple GIST;Familial Intestinal Stromal Tumors, NF3B, subset of Familial GIST,	cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity	g.chr4:55140716C>T	D50001	CCDS3495.1	4q12	2014-09-17			ENSG00000134853	ENSG00000134853		"CD molecules", "Immunoglobulin superfamily / I-set domain containing"	8803	protein-coding gene	gene with protein product		173490					Standard	NM_006206		Approved	CD140a, PDGFR2	uc003han.4	P16234	OTTHUMG00000128699	ENST00000257290.5:c.1577C>T	4.37:g.55140716C>T	ENSP00000257290:p.Thr526Met	TSP Lung(21;0.16)				FIP1L1_ENST00000507166.1_Intron	p.T526M	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		11	1908	+	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		526					B2RE69|E9PBH0|Q6P4H5|Q96KZ7|Q9UD28	Missense_Mutation	SNP	ENST00000257290.5	37	c.1577C>T	CCDS3495.1	.	.	.	.	.	.	.	.	.	.	C	23.9	4.475325	0.84640	.	.	ENSG00000134853	ENST00000257290	T	0.76968	-1.06	6.07	6.07	0.98685	.	0.000000	0.32970	U	0.005429	D	0.87661	0.6233	M	0.68952	2.095	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.988;0.999	D	0.84374	0.0545	10	0.34782	T	0.22	.	20.6593	0.99626	0.0:1.0:0.0:0.0	.	526;526	P16234-3;P16234	.;PGFRA_HUMAN	M	526	ENSP00000257290:T526M	ENSP00000257290:T526M	T	+	2	0	PDGFRA	54835473	1.000000	0.71417	0.971000	0.41717	0.705000	0.40729	7.416000	0.80143	2.885000	0.99019	0.655000	0.94253	ACG		0.478	PDGFRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250598.2	NM_006206		25	84	0	0	0	1	0	25	84					T	55140716	C	T	55140716	3	4	305	1	0	0	0	0	1	0	0	0	11661	536	19	1	1615	1	PDGFRA	4	55140716	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	13213	55140716	136013560	270	14787											
KDR	3791	broad.mit.edu	37	chr4	55984794	55984794	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gaacatagacataaatgaccGaggccaagtcagtttcccgg	14	7	10	10	2	1	2	1	1	0	1	2	4	2	2	3	2	1	1	3	2	5	3			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr4:55984794G>A	ENST00000263923.4	-	3	630	c.335C>T	c.(334-336)tCg>tTg	p.S112L		NM_002253.2	NP_002244.1	P35968	VGFR2_HUMAN	kinase insert domain receptor (a type III receptor tyrosine kinase)	112					angiogenesis (GO:0001525)|branching morphogenesis of an epithelial tube (GO:0048754)|calcium ion homeostasis (GO:0055074)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|cell fate commitment (GO:0045165)|cell maturation (GO:0048469)|cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|embryonic hemopoiesis (GO:0035162)|endothelial cell differentiation (GO:0045446)|endothelium development (GO:0003158)|extracellular matrix organization (GO:0030198)|lung alveolus development (GO:0048286)|lymph vessel development (GO:0001945)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|ovarian follicle development (GO:0001541)|peptidyl-tyrosine autophosphorylation (GO:0038083)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of vasculogenesis (GO:2001214)|protein autophosphorylation (GO:0046777)|regulation of cell shape (GO:0008360)|signal transduction by phosphorylation (GO:0023014)|surfactant homeostasis (GO:0043129)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor signaling pathway (GO:0038084)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sorting endosome (GO:0097443)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|Hsp90 protein binding (GO:0051879)|integrin binding (GO:0005178)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor binding (GO:0038085)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Axitinib(DB06626)|Cabozantinib(DB08875)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	ATAAATGACCGAGGCCAAGTC	0.418			Mis		"NSCLC, angiosarcoma"					TSP Lung(20;0.16)																												ENST00000263923.4				Dom	yes		4	4q11-q12	3791	Mis	vascular endothelial growth factor receptor 2			E			"NSCLC, angiosarcoma"		0				NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135						c.(334-336)tCg>tTg		kinase insert domain receptor (a type III receptor tyrosine kinase)	Sorafenib(DB00398)|Sunitinib(DB01268)						102	93	96					4																	55984794		2203	4300	6503	SO:0001583	missense	3791				angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape	integral to plasma membrane	ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity	g.chr4:55984794G>A	AF035121	CCDS3497.1	4q11-q12	2013-01-29			ENSG00000128052	ENSG00000128052	2.7.10.1	"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6307	protein-coding gene	gene with protein product		191306				1417831	Standard	NM_002253		Approved	FLK1, VEGFR, VEGFR2, CD309	uc003has.3	P35968	OTTHUMG00000128734	ENST00000263923.4:c.335C>T	4.37:g.55984794G>A	ENSP00000263923:p.Ser112Leu	TSP Lung(20;0.16)					p.S112L	NM_002253.2	NP_002244.1	P35968	VGFR2_HUMAN	Epithelial(7;0.189)		3	630	-	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		112					A2RRS0|B5A925|C5IFA0|O60723|Q14178	Missense_Mutation	SNP	ENST00000263923.4	37	c.335C>T	CCDS3497.1	.	.	.	.	.	.	.	.	.	.	G	13.14	2.147530	0.37923	.	.	ENSG00000128052	ENST00000263923	T	0.34072	1.38	5.48	5.48	0.80851	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	0.362046	0.29080	N	0.013209	T	0.40473	0.1118	M	0.74881	2.28	0.09310	N	0.999999	P;B	0.45594	0.862;0.242	B;B	0.34652	0.187;0.054	T	0.51756	-0.8665	10	0.66056	D	0.02	.	19.3387	0.94332	0.0:0.0:1.0:0.0	.	112;112	P35968-2;P35968	.;VGFR2_HUMAN	L	112	ENSP00000263923:S112L	ENSP00000263923:S112L	S	-	2	0	KDR	55679551	0.982000	0.34865	0.006000	0.13384	0.438000	0.31896	6.415000	0.73328	2.588000	0.87417	0.655000	0.94253	TCG		0.418	KDR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250645.1			8	59	0	0	0	1	0	8	59					A	55984794	G	A	55984794	3	1	305	1	0	0	0	0	1	0	0	0	8139	1059	37	2	3847	2	KDR	4	55984794	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	844078	55984794	135169482	271	14788											
REST	5978	broad.mit.edu	37	chr4	57777468	57777468	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccattcgctgtgaccgctgcGgctacaatactaatcgatat	10	11	8	12	4	0	1	0	1	0	0	2	2	0	1	2	1	3	3	2	1	5	5			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr4:57777468G>A	ENST00000309042.7	+	2	978	c.664G>A	c.(664-666)Ggc>Agc	p.G222S	REST_ENST00000514063.1_3'UTR	NM_001193508.1|NM_005612.4	NP_001180437.1|NP_005603.3	Q13127	REST_HUMAN	RE1-silencing transcription factor	222					cardiac muscle cell myoblast differentiation (GO:0060379)|cellular response to drug (GO:0035690)|cellular response to electrical stimulus (GO:0071257)|cellular response to glucocorticoid stimulus (GO:0071385)|hematopoietic progenitor cell differentiation (GO:0002244)|histone H4 deacetylation (GO:0070933)|negative regulation by host of viral transcription (GO:0043922)|negative regulation of aldosterone biosynthetic process (GO:0032348)|negative regulation of amniotic stem cell differentiation (GO:2000798)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cortisol biosynthetic process (GO:2000065)|negative regulation of dense core granule biogenesis (GO:2000706)|negative regulation of gene expression (GO:0010629)|negative regulation of insulin secretion (GO:0046676)|negative regulation of mesenchymal stem cell differentiation (GO:2000740)|negative regulation of neurogenesis (GO:0050768)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of transcription, DNA-templated (GO:0045893)|potassium ion transmembrane transport (GO:0071805)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|core promoter binding (GO:0001047)|core promoter sequence-specific DNA binding (GO:0001046)|metal ion binding (GO:0046872)|outward rectifier potassium channel activity (GO:0015271)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	50	Glioma(25;0.08)|all_neural(26;0.181)					TGACCGCTGCGGCTACAATAC	0.498																																						ENST00000309042.7																			0				central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	50						c.(664-666)Ggc>Agc		RE1-silencing transcription factor							53	51	52					4																	57777468		2203	4300	6503	SO:0001583	missense	5978				cardiac muscle cell myoblast differentiation|cellular response to drug|cellular response to electrical stimulus|cellular response to glucocorticoid stimulus|histone H4 deacetylation|negative regulation by host of viral transcription|negative regulation of aldosterone biosynthetic process|negative regulation of calcium ion-dependent exocytosis|negative regulation of cell proliferation|negative regulation of cortisol biosynthetic process|negative regulation of dense core granule biogenesis|negative regulation of insulin secretion|negative regulation of mesenchymal stem cell differentiation|negative regulation of neurogenesis|negative regulation of neuron differentiation|positive regulation of apoptosis|positive regulation of caspase activity|positive regulation of transcription, DNA-dependent	cytoplasm|transcriptional repressor complex	calcium channel activity|chromatin binding|core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|outward rectifier potassium channel activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|zinc ion binding	g.chr4:57777468G>A	U13879	CCDS3509.1	4q12	2008-02-05			ENSG00000084093	ENSG00000084093			9966	protein-coding gene	gene with protein product		600571				7871435, 7697725	Standard	NM_005612		Approved	NRSF, XBR	uc003hci.3	Q13127	OTTHUMG00000128770	ENST00000309042.7:c.664G>A	4.37:g.57777468G>A	ENSP00000311816:p.Gly222Ser					REST_ENST00000514063.1_3'UTR	p.G222S	NM_001193508.1|NM_005612.4	NP_001180437.1|NP_005603.3	Q13127	REST_HUMAN			2	978	+	Glioma(25;0.08)|all_neural(26;0.181)		222					A2RUE0|B9EGJ0|Q12956|Q12957|Q13134|Q59ER1|Q8IWI3	Missense_Mutation	SNP	ENST00000309042.7	37	c.664G>A	CCDS3509.1	.	.	.	.	.	.	.	.	.	.	G	32	5.158728	0.94686	.	.	ENSG00000084093	ENST00000456010;ENST00000309042;ENST00000358605	T	0.35236	1.32	5.25	5.25	0.73442	Zinc finger, C2H2-like (1);	0.000000	0.64402	D	0.000003	T	0.55497	0.1924	L	0.52759	1.655	0.80722	D	1	B;D	0.76494	0.313;0.999	B;D	0.68765	0.14;0.96	T	0.55817	-0.8081	10	0.72032	D	0.01	-15.6402	18.6399	0.91392	0.0:0.0:1.0:0.0	.	222;222	Q13127-2;Q13127	.;REST_HUMAN	S	222	ENSP00000311816:G222S	ENSP00000311816:G222S	G	+	1	0	REST	57472225	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	9.623000	0.98386	2.749000	0.94314	0.655000	0.94253	GGC		0.498	REST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250691.2	NM_005612		20	40	0	0	0	1	0	20	40					A	57777468	G	A	57777468	3	1	305	1	0	0	0	0	1	0	0	0	13234	1116	39	2	666	2	REST	4	57777468	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	1792674	57777468	133376808	272	14789											
GNRHR	2798	broad.mit.edu	37	chr4	68610374	68610374	+	Nonsense_Mutation	SNP	G	G	T																															aaaagagggatgatgaagagGcagctgaaggtgaaaaagtt																										TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr4:68610374G>T	ENST00000226413.4	-	2	678	c.654C>A	c.(652-654)tgC>tgA	p.C218*	UBA6-AS1_ENST00000500538.2_RNA|SNORA62_ENST00000365504.1_RNA|UBA6-AS1_ENST00000502758.1_RNA|GNRHR_ENST00000420975.2_Missense_Mutation_p.P176T	NM_000406.2	NP_000397.1	P30968	GNRHR_HUMAN	gonadotropin-releasing hormone receptor	218					cellular response to gonadotropin-releasing hormone (GO:0097211)|G-protein coupled receptor signaling pathway (GO:0007186)|multicellular organismal development (GO:0007275)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	gonadotropin-releasing hormone receptor activity (GO:0004968)			endometrium(2)|large_intestine(4)|liver(1)|lung(4)|ovary(1)|urinary_tract(1)	13					Abarelix(DB00106)|Buserelin(DB06719)|Cetrorelix(DB00050)|Danazol(DB01406)|Degarelix(DB06699)|Gonadorelin(DB00644)|Goserelin(DB00014)|Leuprolide(DB00007)|Nafarelin(DB00666)	TGATGAAGAGGCAGCTGAAGG	0.433																																						ENST00000226413.4																			0				endometrium(2)|large_intestine(4)|liver(1)|lung(4)|ovary(1)|urinary_tract(1)	13						c.(652-654)tgC>tgA		gonadotropin-releasing hormone receptor	Abarelix(DB00106)|Cetrorelix(DB00050)|Danazol(DB01406)|Gonadorelin(DB00644)|Leuprolide(DB00007)|Nafarelin(DB00666)						135	140	139					4																	68610374		2203	4300	6503	SO:0001587	stop_gained	0				multicellular organismal development	integral to plasma membrane	gonadotropin-releasing hormone receptor activity	g.chr4:68610374G>T		CCDS3517.1, CCDS47064.1	4q21.2	2012-08-08			ENSG00000109163	ENSG00000109163		"GPCR / Class A : Gonadotropin-releasing hormone receptors"	4421	protein-coding gene	gene with protein product		138850		GRHR		8386108	Standard	NM_000406		Approved	LHRHR	uc003hdn.3	P30968	OTTHUMG00000129302	ENST00000226413.4:c.654C>A	4.37:g.68610374G>T	ENSP00000226413:p.Cys218*					RP11-453E17.1_ENST00000502758.1_RNA|RP11-453E17.1_ENST00000500538.2_RNA|GNRHR_ENST00000420975.2_Missense_Mutation_p.P176T	p.C218*	NM_000406.2	NP_000397.1	P30968	GNRHR_HUMAN			2	678	-			218					O75793|Q14D13|Q92644	Nonsense_Mutation	SNP	ENST00000226413.4	37	c.654C>A	CCDS3517.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	33|33	5.194391|5.194391	0.94960|0.94960	.|.	.|.	ENSG00000109163|ENSG00000109163	ENST00000226413|ENST00000420975	.|T	.|0.70869	.|-0.52	5.51|5.51	4.65|4.65	0.58169|0.58169	.|.	0.275574|.	0.32314|.	N|.	0.006264|.	.|T	.|0.78123	.|0.4234	.|.	.|.	.|.	0.31390|0.31390	N|N	0.677999|0.677999	.|D	.|0.55800	.|0.973	.|P	.|0.54026	.|0.74	.|T	.|0.81019	.|-0.1122	.|8	0.02654|0.62326	T|D	1|0.03	-2.4573|-2.4573	14.305|14.305	0.66380|0.66380	0.0:0.1499:0.8501:0.0|0.0:0.1499:0.8501:0.0	.|.	.|176	.|P30968-2	.|.	X|T	218|176	.|ENSP00000397561:P176T	ENSP00000226413:C218X|ENSP00000397561:P176T	C|P	-|-	3|1	2|0	GNRHR|GNRHR	68292969|68292969	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.987000|0.987000	0.75469|0.75469	2.295000|2.295000	0.43576|0.43576	1.439000|1.439000	0.47511|0.47511	0.643000|0.643000	0.83706|0.83706	TGC|CCT		0.433	GNRHR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251432.2			33	77	1	0	1.61788e-16	1	1.69298e-16	33	77					T	68610374	G	T	68610374	4	4	305	1	0	0	0	0	0	1	0	0	6549	1204	42	5	340	5	GNRHR	4	68610374	Nonsense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	10832906	68610374	122543902	273	14790	74	2									
GNRHR	2798	broad.mit.edu	37	chr4	68610375	68610375	+	Missense_Mutation	SNP	C	C	T																															aaagagggatgatgaagaggCagctgaaggtgaaaaagtta																								rs151105045	byFrequency	TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr4:68610375C>T	ENST00000226413.4	-	2	677	c.653G>A	c.(652-654)tGc>tAc	p.C218Y	UBA6-AS1_ENST00000500538.2_RNA|SNORA62_ENST00000365504.1_RNA|UBA6-AS1_ENST00000502758.1_RNA|GNRHR_ENST00000420975.2_Silent_p.L175L	NM_000406.2	NP_000397.1	P30968	GNRHR_HUMAN	gonadotropin-releasing hormone receptor	218					cellular response to gonadotropin-releasing hormone (GO:0097211)|G-protein coupled receptor signaling pathway (GO:0007186)|multicellular organismal development (GO:0007275)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	gonadotropin-releasing hormone receptor activity (GO:0004968)			endometrium(2)|large_intestine(4)|liver(1)|lung(4)|ovary(1)|urinary_tract(1)	13					Abarelix(DB00106)|Buserelin(DB06719)|Cetrorelix(DB00050)|Danazol(DB01406)|Degarelix(DB06699)|Gonadorelin(DB00644)|Goserelin(DB00014)|Leuprolide(DB00007)|Nafarelin(DB00666)	GATGAAGAGGCAGCTGAAGGT	0.438																																						ENST00000226413.4																			0				endometrium(2)|large_intestine(4)|liver(1)|lung(4)|ovary(1)|urinary_tract(1)	13						c.(652-654)tGc>tAc		gonadotropin-releasing hormone receptor	Abarelix(DB00106)|Cetrorelix(DB00050)|Danazol(DB01406)|Gonadorelin(DB00644)|Leuprolide(DB00007)|Nafarelin(DB00666)						136	141	139					4																	68610375		2203	4300	6503	SO:0001583	missense	0				multicellular organismal development	integral to plasma membrane	gonadotropin-releasing hormone receptor activity	g.chr4:68610375C>T		CCDS3517.1, CCDS47064.1	4q21.2	2012-08-08			ENSG00000109163	ENSG00000109163		"GPCR / Class A : Gonadotropin-releasing hormone receptors"	4421	protein-coding gene	gene with protein product		138850		GRHR		8386108	Standard	NM_000406		Approved	LHRHR	uc003hdn.3	P30968	OTTHUMG00000129302	ENST00000226413.4:c.653G>A	4.37:g.68610375C>T	ENSP00000226413:p.Cys218Tyr					RP11-453E17.1_ENST00000502758.1_RNA|RP11-453E17.1_ENST00000500538.2_RNA|GNRHR_ENST00000420975.2_Silent_p.L175L	p.C218Y	NM_000406.2	NP_000397.1	P30968	GNRHR_HUMAN			2	677	-			218					O75793|Q14D13|Q92644	Missense_Mutation	SNP	ENST00000226413.4	37	c.653G>A	CCDS3517.1	.	.	.	.	.	.	.	.	.	.	C	17.11	3.306616	0.60305	.	.	ENSG00000109163	ENST00000226413	T	0.37411	1.2	5.51	3.71	0.42584	GPCR, rhodopsin-like superfamily (1);	0.275574	0.32314	N	0.006264	T	0.54175	0.1842	.	.	.	0.80722	D	1	D	0.61080	0.989	P	0.59115	0.852	T	0.58624	-0.7604	9	0.72032	D	0.01	-2.4573	12.798	0.57569	0.3387:0.6613:0.0:0.0	.	218	P30968	GNRHR_HUMAN	Y	218	ENSP00000226413:C218Y	ENSP00000226413:C218Y	C	-	2	0	GNRHR	68292970	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	1.238000	0.32707	0.740000	0.32651	-0.294000	0.09567	TGC		0.438	GNRHR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251432.2			35	77	0	0	0	1	0	35	77					T	68610375	C	T	68610375	3	4	305	1	0	0	0	0	1	0	0	0	6549	710	25	3	341	3	GNRHR	4	68610375	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	1	68610375	122543901	274	14791	74	2									
UGT2A3	79799	broad.mit.edu	37	chr4	69795695	69795695	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtcatgggcagctgatcgcaGgtgcttggctcctttgtggc	4	12	15	10	1	1	1	1	1	0	0	3	1	2	1	1	4	2	5	1	4	0	2			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr4:69795695G>T	ENST00000251566.4	-	6	1450	c.1420C>A	c.(1420-1422)Ctg>Atg	p.L474M	UGT2A3_ENST00000420231.2_Missense_Mutation_p.L185M	NM_024743.3	NP_079019.3	Q6UWM9	UD2A3_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide A3	474					cellular glucuronidation (GO:0052695)	integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)			NS(1)|breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						GCTGATCGCAGGTGCTTGGCT	0.488																																						ENST00000251566.4																			0				NS(1)|breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						c.(1420-1422)Ctg>Atg		UDP glucuronosyltransferase 2 family, polypeptide A3							88	88	88					4																	69795695		2203	4300	6503	SO:0001583	missense	79799					integral to membrane	glucuronosyltransferase activity	g.chr4:69795695G>T		CCDS3525.1	4q13.2	2010-12-14			ENSG00000135220	ENSG00000135220		"UDP glucuronosyltransferases"	28528	protein-coding gene	gene with protein product							Standard	NM_024743		Approved	FLJ21934	uc003hef.2	Q6UWM9	OTTHUMG00000129408	ENST00000251566.4:c.1420C>A	4.37:g.69795695G>T	ENSP00000251566:p.Leu474Met					UGT2A3_ENST00000420231.2_Missense_Mutation_p.L185M	p.L474M	NM_024743.3	NP_079019.3	Q6UWM9	UD2A3_HUMAN			6	1450	-			474					Q9H6S4	Missense_Mutation	SNP	ENST00000251566.4	37	c.1420C>A	CCDS3525.1	.	.	.	.	.	.	.	.	.	.	G	12.84	2.058539	0.36277	.	.	ENSG00000135220	ENST00000251566;ENST00000420231	T;T	0.69435	-0.4;2.31	2.22	2.22	0.28083	.	0.000000	0.64402	D	0.000004	T	0.81588	0.4854	M	0.88704	2.975	0.38622	D	0.951151	D	0.89917	1.0	D	0.81914	0.995	D	0.84857	0.0817	10	0.87932	D	0	.	10.0537	0.42233	0.0:0.0:1.0:0.0	.	474	Q6UWM9	UD2A3_HUMAN	M	474;185	ENSP00000251566:L474M;ENSP00000440115:L185M	ENSP00000251566:L474M	L	-	1	2	UGT2A3	69830284	1.000000	0.71417	0.866000	0.34008	0.064000	0.16182	1.158000	0.31737	1.248000	0.43934	0.491000	0.48974	CTG		0.488	UGT2A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251564.1	NM_024743		41	91	1	0	4.67007e-22	1	4.9106e-22	41	91					T	69795695	G	T	69795695	3	4	305	1	0	0	0	0	1	0	0	0	16952	991	35	5	167	5	UGT2A3	4	69795695	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	1185320	69795695	121358581	275	14792											
UGT2B28	54490	broad.mit.edu	37	chr4	70146235	70146235	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggatggctctgaagtggaCttcagttcttctgctgatac	8	13	11	9	0	4	2	1	2	3	0	4	4	4	4	0	3	2	3	0	3	2	4			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr4:70146235C>T	ENST00000335568.5	+	1	19	c.17C>T	c.(16-18)aCt>aTt	p.T6I	UGT2B28_ENST00000511240.1_Missense_Mutation_p.T6I	NM_053039.1	NP_444267.1	Q9BY64	UDB28_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B28	6					metabolic process (GO:0008152)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	31						CTGAAGTGGACTTCAGTTCTT	0.403																																						ENST00000335568.5																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	31						c.(16-18)aCt>aTt		UDP glucuronosyltransferase 2 family, polypeptide B28	Flunitrazepam(DB01544)						155	172	167					4																	70146235		2047	4237	6284	SO:0001583	missense	54490				xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	g.chr4:70146235C>T	AF177272	CCDS3528.1, CCDS56330.1	4q13.3	2011-02-09	2005-07-20		ENSG00000135226	ENSG00000135226		"UDP glucuronosyltransferases"	13479	protein-coding gene	gene with protein product		606497	"UDP glycosyltransferase 2 family, polypeptide B28"			11300766	Standard	NM_053039		Approved		uc003hej.3	Q9BY64	OTTHUMG00000129401	ENST00000335568.5:c.17C>T	4.37:g.70146235C>T	ENSP00000334276:p.Thr6Ile					UGT2B28_ENST00000511240.1_Missense_Mutation_p.T6I	p.T6I	NM_053039.1	NP_444267.1	Q9BY64	UDB28_HUMAN			1	19	+			6					B5BUM0|Q9BY62|Q9BY63	Missense_Mutation	SNP	ENST00000335568.5	37	c.17C>T	CCDS3528.1	.	.	.	.	.	.	.	.	.	.	-	0	-2.728658	0.00091	.	.	ENSG00000135226	ENST00000335568;ENST00000511240	T;T	0.59502	0.26;1.19	2.18	-4.36	0.03645	.	1.161080	0.06751	N	0.779990	T	0.29749	0.0743	N	0.11313	0.125	0.09310	N	1	B;B	0.14012	0.009;0.0	B;B	0.25614	0.062;0.001	T	0.19679	-1.0298	10	0.10111	T	0.7	.	3.4162	0.07376	0.2849:0.255:0.0:0.46	.	6;6	Q9BY64-2;Q9BY64	.;UDB28_HUMAN	I	6	ENSP00000334276:T6I;ENSP00000427399:T6I	ENSP00000334276:T6I	T	+	2	0	UGT2B28	70180824	0.000000	0.05858	0.000000	0.03702	0.014000	0.08584	-0.125000	0.10579	-1.546000	0.01717	0.184000	0.17185	ACT		0.403	UGT2B28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251557.2	NM_053039		53	155	0	0	0	1	0	53	155					T	70146235	C	T	70146235	3	4	305	1	0	0	0	0	1	0	0	0	16957	565	20	3	19	3	UGT2B28	4	70146235	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	350540	70146235	121008041	276	14793											
SULT1E1	6783	broad.mit.edu	37	chr4	70713451	70713451	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtagaaaagaaatagtacacGtggactctttcccttttccc	12	12	7	10	1	1	2	0	0	1	2	3	3	3	3	2	1	1	2	2	1	6	6			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr4:70713451G>A	ENST00000226444.3	-	6	668	c.556C>T	c.(556-558)Cgt>Tgt	p.R186C		NM_005420.2	NP_005411.1	P49888	ST1E1_HUMAN	sulfotransferase family 1E, estrogen-preferring, member 1	186					3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|estrogen metabolic process (GO:0008210)|female pregnancy (GO:0007565)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|sulfation (GO:0051923)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	estrone sulfotransferase activity (GO:0004304)|flavonol 3-sulfotransferase activity (GO:0047894)|steroid binding (GO:0005496)|steroid sulfotransferase activity (GO:0050294)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)	10					Acetaminophen(DB00316)|Cyclizine(DB01176)	AATAGTACACGTGGACTCTTT	0.358																																						ENST00000226444.3																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)	10						c.(556-558)Cgt>Tgt		sulfotransferase family 1E, estrogen-preferring, member 1							100	100	100					4																	70713451		2203	4299	6502	SO:0001583	missense	6783				3'-phosphoadenosine 5'-phosphosulfate metabolic process|sulfation|xenobiotic metabolic process	cytosol|nuclear membrane	estrone sulfotransferase activity|flavonol 3-sulfotransferase activity|steroid binding|steroid sulfotransferase activity	g.chr4:70713451G>A	BC027956	CCDS3531.1	4q13.1	2008-02-05	2004-02-06	2004-02-04	ENSG00000109193	ENSG00000109193	2.8.2.4	"Sulfotransferases, cytosolic"	11377	protein-coding gene	gene with protein product		600043	"sulfotransferase, estrogen-preferring"	STE		7961757	Standard	NM_005420		Approved	EST	uc003heo.3	P49888	OTTHUMG00000129403	ENST00000226444.3:c.556C>T	4.37:g.70713451G>A	ENSP00000226444:p.Arg186Cys						p.R186C	NM_005420.2	NP_005411.1	P49888	ST1E1_HUMAN			6	668	-			186					Q8N6X5	Missense_Mutation	SNP	ENST00000226444.3	37	c.556C>T	CCDS3531.1	.	.	.	.	.	.	.	.	.	.	G	3.151	-0.174128	0.06421	.	.	ENSG00000109193	ENST00000226444	T	0.01933	4.55	4.21	2.36	0.29203	Sulfotransferase domain (1);	1.499550	0.03615	N	0.235386	T	0.06690	0.0171	M	0.82923	2.615	0.09310	N	0.999999	B	0.19331	0.035	B	0.15052	0.012	T	0.47355	-0.9124	10	0.59425	D	0.04	.	10.7734	0.46336	0.0:0.0:0.6177:0.3823	.	186	P49888	ST1E1_HUMAN	C	186	ENSP00000226444:R186C	ENSP00000226444:R186C	R	-	1	0	SULT1E1	70748040	0.003000	0.15002	0.028000	0.17463	0.004000	0.04260	1.268000	0.33062	0.641000	0.30601	0.650000	0.86243	CGT		0.358	SULT1E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251559.1	NM_005420		16	52	0	0	0	1	0	16	52					A	70713451	G	A	70713451	3	1	305	1	0	0	0	0	1	0	0	0	15377	1145	40	1	340	1	SULT1E1	4	70713451	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	567216	70713451	120440825	277	14794											
PF4	5196	broad.mit.edu	37	chr4	74846961	74846961	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	taattattttcttgtacagcGgggcttgcaggtccaagcaa	10	13	10	8	1	1	0	0	0	1	0	2	0	2	0	1	3	4	4	1	3	5	7			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr4:74846961G>A	ENST00000296029.3	-	3	436	c.266C>T	c.(265-267)cCg>cTg	p.P89L		NM_002619.3	NP_002610.1	P02776	PLF4_HUMAN	platelet factor 4	89					blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)|leukocyte chemotaxis (GO:0030595)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cytolysis (GO:0045918)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of megakaryocyte differentiation (GO:0045653)|negative regulation of MHC class II biosynthetic process (GO:0045347)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of cAMP metabolic process (GO:0030816)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of gene expression (GO:0010628)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of cell proliferation (GO:0042127)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|platelet alpha granule lumen (GO:0031093)	chemokine activity (GO:0008009)|CXCR3 chemokine receptor binding (GO:0048248)|heparin binding (GO:0008201)			kidney(1)|lung(1)	2	Breast(15;0.00136)		all cancers(17;0.0034)|Lung(101;0.196)		Drotrecogin alfa(DB00055)	CTTGTACAGCGGGGCTTGCAG	0.423																																						ENST00000296029.3																			0				kidney(1)|lung(1)	2						c.(265-267)cCg>cTg		platelet factor 4	Drotrecogin alfa(DB00055)						85	91	89					4																	74846961		2203	4300	6503	SO:0001583	missense	5196				cytokine-mediated signaling pathway|immune response|leukocyte chemotaxis|negative regulation of angiogenesis|negative regulation of apoptosis|negative regulation of cytolysis|negative regulation of megakaryocyte differentiation|negative regulation of MHC class II biosynthetic process|platelet activation|platelet degranulation|positive regulation of gene expression|positive regulation of macrophage derived foam cell differentiation|positive regulation of macrophage differentiation|positive regulation of tumor necrosis factor production	extracellular space|platelet alpha granule lumen	chemokine activity|heparin binding	g.chr4:74846961G>A	M25897	CCDS3562.1	4q12-q21	2012-10-02	2008-08-29		ENSG00000163737	ENSG00000163737			8861	protein-coding gene	gene with protein product	"chemokine (C-X-C motif) ligand 4"	173460	"platelet factor 4"			3622011	Standard	NM_002619		Approved	SCYB4, CXCL4	uc003hhi.3	P02776	OTTHUMG00000130009	ENST00000296029.3:c.266C>T	4.37:g.74846961G>A	ENSP00000296029:p.Pro89Leu						p.P89L	NM_002619.3	NP_002610.1	P02776	PLF4_HUMAN	all cancers(17;0.0034)|Lung(101;0.196)		3	436	-	Breast(15;0.00136)		89					Q53X61|Q9UC64|Q9UC65	Missense_Mutation	SNP	ENST00000296029.3	37	c.266C>T	CCDS3562.1	.	.	.	.	.	.	.	.	.	.	G	11.18	1.563935	0.27915	.	.	ENSG00000163737	ENST00000296029	T	0.05717	3.4	2.48	1.57	0.23409	Chemokine interleukin-8-like domain (3);	0.694356	0.14652	N	0.306559	T	0.08980	0.0222	M	0.75150	2.29	0.09310	N	0.999998	B	0.27932	0.194	B	0.26094	0.066	T	0.17868	-1.0355	10	0.56958	D	0.05	.	6.9832	0.24713	0.0:0.2873:0.7127:0.0	.	89	P02776	PLF4_HUMAN	L	89	ENSP00000296029:P89L	ENSP00000296029:P89L	P	-	2	0	PF4	75065825	0.000000	0.05858	0.001000	0.08648	0.405000	0.30901	0.448000	0.21726	0.335000	0.23614	0.305000	0.20034	CCG		0.423	PF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252282.1			24	64	0	0	0	1	0	24	64					A	74846961	G	A	74846961	3	1	305	1	0	0	0	0	1	0	0	0	11752	1116	39	2	43	2	PF4	4	74846961	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	4133510	74846961	116307315	278	14795											
CDKL2	8999	broad.mit.edu	37	chr4	76521466	76521466	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	aatgttataaatgcctgatgGggaatgtctgttcggtttaa	11	15	11	4	1	1	1	0	1	1	0	2	2	1	2	1	3	1	3	1	3	6	5			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr4:76521466G>T	ENST00000429927.2	-	10	2084	c.1381C>A	c.(1381-1383)Cca>Aca	p.P461T	CDKL2_ENST00000307465.4_Missense_Mutation_p.P461T	NM_003948.3	NP_003939.1	Q92772	CDKL2_HUMAN	cyclin-dependent kinase-like 2 (CDC2-related kinase)	461					sex differentiation (GO:0007548)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672)			breast(3)|endometrium(1)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(2)|stomach(2)	22			Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122)			ATGCCTGATGGGGAATGTCTG	0.338																																						ENST00000429927.2																			0				breast(3)|endometrium(1)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(2)|stomach(2)	22						c.(1381-1383)Cca>Aca		cyclin-dependent kinase-like 2 (CDC2-related kinase)							175	162	166					4																	76521466		2203	4300	6503	SO:0001583	missense	8999				sex differentiation|signal transduction	cytoplasm|nucleus	ATP binding|cyclin-dependent protein kinase activity	g.chr4:76521466G>T	U35146	CCDS3570.1	4q21.21	2011-11-04			ENSG00000138769	ENSG00000138769		"Cyclin-dependent kinases"	1782	protein-coding gene	gene with protein product		603442				9000130	Standard	NM_003948		Approved	P56, KKIAMRE	uc003hiq.3	Q92772	OTTHUMG00000130103	ENST00000429927.2:c.1381C>A	4.37:g.76521466G>T	ENSP00000412365:p.Pro461Thr					CDKL2_ENST00000307465.4_Missense_Mutation_p.P461T	p.P461T	NM_003948.3	NP_003939.1	Q92772	CDKL2_HUMAN	Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122)		10	2084	-			461					B2R695	Missense_Mutation	SNP	ENST00000429927.2	37	c.1381C>A	CCDS3570.1	.	.	.	.	.	.	.	.	.	.	G	14.27	2.484070	0.44147	.	.	ENSG00000138769	ENST00000429927;ENST00000307465	T;T	0.71341	0.39;-0.56	5.2	5.2	0.72013	.	.	.	.	.	T	0.55114	0.1900	N	0.19112	0.55	0.37159	D	0.902508	B;P	0.39809	0.062;0.689	B;B	0.32928	0.021;0.155	T	0.65857	-0.6066	9	0.52906	T	0.07	-4.872	16.126	0.81395	0.0:0.0:1.0:0.0	.	461;461	B4DH08;Q92772	.;CDKL2_HUMAN	T	461	ENSP00000412365:P461T;ENSP00000306340:P461T	ENSP00000306340:P461T	P	-	1	0	CDKL2	76740490	1.000000	0.71417	1.000000	0.80357	0.749000	0.42624	3.359000	0.52292	2.854000	0.98071	0.655000	0.94253	CCA		0.338	CDKL2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000252409.2	NM_003948		8	39	1	0	2.17888e-05	1	2.23252e-05	8	39					T	76521466	G	T	76521466	3	4	305	1	0	0	0	0	1	0	0	0	3154	1232	43	5	108	5	CDKL2	4	76521466	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	1674505	76521466	114632810	279	14796											
FRAS1	80144	broad.mit.edu	37	chr4	79396694	79396694	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtcgcaccgagcaaggcacCgccagctccagctccagggt	8	5	12	16	3	0	0	0	0	0	0	3	1	2	0	5	2	3	5	5	2	1	0			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr4:79396694C>T	ENST00000264895.6	+	54	8225	c.7785C>T	c.(7783-7785)acC>acT	p.T2595T		NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser extracellular matrix complex subunit 1	2595	Calx-beta 1.				cell communication (GO:0007154)|embryonic limb morphogenesis (GO:0030326)|metanephros morphogenesis (GO:0003338)|morphogenesis of an epithelium (GO:0002009)|palate development (GO:0060021)|protein transport (GO:0015031)|skin development (GO:0043588)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sublamina densa (GO:0061618)	metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						AGCAAGGCACCGCCAGCTCCA	0.597																																						ENST00000264895.6																			0				breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						c.(7783-7785)acC>acT		Fraser syndrome 1							97	107	104					4																	79396694		2096	4222	6318	SO:0001819	synonymous_variant	80144				cell communication	integral to membrane|plasma membrane	metal ion binding	g.chr4:79396694C>T	AB040933	CCDS54772.1	4q21.21	2014-06-25	2014-06-25		ENSG00000138759	ENSG00000138759			19185	protein-coding gene	gene with protein product		607830	"Fraser syndrome 1"			12766769, 3118036	Standard	NM_025074		Approved	FLJ22031, FLJ14927, KIAA1500	uc003hlb.2	Q86XX4	OTTHUMG00000160856	ENST00000264895.6:c.7785C>T	4.37:g.79396694C>T							p.T2595T	NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN			54	8225	+			2594			Calx-beta 1.		A2RRR8|Q86UZ4|Q8N3U9|Q8NAU7|Q96JW7|Q9H6N9|Q9P228	Silent	SNP	ENST00000264895.6	37	c.7785C>T	CCDS54771.1	.	.	.	.	.	.	.	.	.	.	C	0.638	-0.814424	0.02798	.	.	ENSG00000138759	ENST00000512123	.	.	.	5.44	-10.9	0.00192	.	.	.	.	.	T	0.33990	0.0882	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.48570	-0.9024	4	.	.	.	.	3.4707	0.07566	0.1803:0.0868:0.1547:0.5782	.	.	.	.	C	824	.	.	R	+	1	0	FRAS1	79615718	0.000000	0.05858	0.131000	0.22000	0.217000	0.24651	-6.447000	0.00065	-3.415000	0.00168	-0.971000	0.02607	CGC		0.597	FRAS1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				23	67	0	0	0	1	0	23	67					T	79396694	C	T	79396694	2	4	305	1	0	0	0	0	0	0	0	1	6042	639	23	2		2	FRAS1	4	79396694	Silent	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	2875228	79396694	111757582	280	14797											
AFF1	4299	broad.mit.edu	37	chr4	87967875	87967875	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aggtgatgagctgtctagtcGaatacagaacatgttgggaa	13	10	13	5	1	1	3	0	2	1	1	2	5	1	4	0	2	3	2	0	2	5	3			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr4:87967875G>A	ENST00000307808.6	+	3	587	c.167G>A	c.(166-168)cGa>cAa	p.R56Q	AFF1_ENST00000395146.4_Missense_Mutation_p.R63Q|AFF1_ENST00000544085.1_Intron	NM_005935.2	NP_005926.1	P51825	AFF1_HUMAN	AF4/FMR2 family, member 1	56					positive regulation of transcription, DNA-templated (GO:0045893)	transcription elongation factor complex (GO:0008023)	sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|large_intestine(2)	3		Acute lymphoblastic leukemia(40;0.0935)|all_hematologic(202;0.111)|Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000233)		CTGTCTAGTCGAATACAGAAC	0.373																																						ENST00000307808.6																			0				breast(1)|large_intestine(2)	3						c.(166-168)cGa>cAa		AF4/FMR2 family, member 1							154	158	156					4																	87967875		2203	4300	6503	SO:0001583	missense	4299					nucleus	sequence-specific DNA binding transcription factor activity	g.chr4:87967875G>A	L22179	CCDS3616.1, CCDS54775.1	4q21.3	2009-08-04	2005-06-27	2005-06-27	ENSG00000172493	ENSG00000172493			7135	protein-coding gene	gene with protein product		159557	"myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 2", "pre-B-cell monocytic leukemia partner 1"	PBM1, MLLT2		7689231, 1423625, 8353274	Standard	NM_005935		Approved	AF-4, AF4	uc011ccz.2	P51825	OTTHUMG00000130603	ENST00000307808.6:c.167G>A	4.37:g.87967875G>A	ENSP00000305689:p.Arg56Gln					AFF1_ENST00000544085.1_Intron|AFF1_ENST00000395146.4_Missense_Mutation_p.R63Q	p.R56Q	NM_005935.2	NP_005926.1	P51825	AFF1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000233)	3	587	+		Acute lymphoblastic leukemia(40;0.0935)|all_hematologic(202;0.111)|Hepatocellular(203;0.114)	56					B4DTU1|E9PBM3	Missense_Mutation	SNP	ENST00000307808.6	37	c.167G>A	CCDS3616.1	.	.	.	.	.	.	.	.	.	.	G	17.44	3.390845	0.62066	.	.	ENSG00000172493	ENST00000395146;ENST00000395142;ENST00000507468;ENST00000503477;ENST00000307808	T;T;T;T	0.78364	-1.17;-1.17;-1.17;-1.17	5.5	4.64	0.57946	.	0.092010	0.45361	D	0.000377	D	0.87759	0.6258	M	0.84326	2.69	0.47183	D	0.999348	D;D;D;D;D	0.89917	1.0;1.0;0.999;0.999;1.0	D;D;D;D;D	0.80764	0.99;0.971;0.994;0.994;0.99	D	0.87750	0.2591	10	0.48119	T	0.1	-15.5958	14.0708	0.64858	0.0725:0.0:0.9275:0.0	.	63;63;56;56;63	E9PBM3;B4DXZ8;Q14C88;P51825;B4DTU1	.;.;.;AFF1_HUMAN;.	Q	63;63;63;63;56	ENSP00000378578:R63Q;ENSP00000427593:R63Q;ENSP00000424483:R63Q;ENSP00000305689:R56Q	ENSP00000305689:R56Q	R	+	2	0	AFF1	88186899	0.999000	0.42202	0.467000	0.27180	0.429000	0.31625	5.138000	0.64795	2.748000	0.94277	0.655000	0.94253	CGA		0.373	AFF1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253053.3	NM_005935		58	184	0	0	0	1	0	58	184					A	87967875	G	A	87967875	3	1	305	1	0	0	0	0	1	0	0	0	356	1058	37	2	219	2	AFF1	4	87967875	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	8571181	87967875	103186401	281	14798											
HERC3	8916	broad.mit.edu	37	chr4	89577167	89577167	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tactgggctgcccacagtggCcagctttcagcccgagctgg	6	8	13	14	1	1	0	1	0	0	0	1	1	1	0	3	3	5	3	3	3	1	2			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr4:89577167C>T	ENST00000402738.1	+	9	1289	c.1050C>T	c.(1048-1050)ggC>ggT	p.G350G	HERC3_ENST00000543130.1_5'Flank|HERC3_ENST00000407637.1_Silent_p.G350G|HERC3_ENST00000264345.3_Silent_p.G350G	NM_001271602.1|NM_014606.1	NP_001258531.1|NP_055421.1	Q15034	HERC3_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 3	350					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasmic vesicle (GO:0031410)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|prostate(2)|skin(2)	45				OV - Ovarian serous cystadenocarcinoma(123;0.000319)		CCCACAGTGGCCAGCTTTCAG	0.423																																						ENST00000402738.1																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|prostate(2)|skin(2)	45						c.(1048-1050)ggC>ggT		HECT and RLD domain containing E3 ubiquitin protein ligase 3							92	88	89					4																	89577167		2203	4300	6503	SO:0001819	synonymous_variant	8916				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasmic membrane-bounded vesicle	ubiquitin-protein ligase activity	g.chr4:89577167C>T	D25215	CCDS34028.1	4q21	2012-02-23	2012-02-23		ENSG00000138641	ENSG00000138641			4876	protein-coding gene	gene with protein product		605200	"hect domain and RLD 3"			10702688	Standard	NM_014606		Approved	KIAA0032	uc003hrw.2	Q15034	OTTHUMG00000150436	ENST00000402738.1:c.1050C>T	4.37:g.89577167C>T						HERC3_ENST00000264345.3_Silent_p.G350G|HERC3_ENST00000407637.1_Silent_p.G350G	p.G350G	NM_001271602.1|NM_014606.1	NP_001258531.1|NP_055421.1	Q15034	HERC3_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000319)	9	1289	+			350					A8K1S5|Q8IXX3	Silent	SNP	ENST00000402738.1	37	c.1050C>T	CCDS34028.1																																																																																				0.423	HERC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318081.2	NM_014606		9	70	0	0	0	1	0	9	70					T	89577167	C	T	89577167	2	4	305	1	0	0	0	0	0	0	0	1	7059	726	26	3		3	HERC3	4	89577167	Silent	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	1609292	89577167	101577109	282	14799											
FAM13A	10144	broad.mit.edu	37	chr4	89912189	89912189	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atgcgattctgcacatgatgCttggctacttttgtcaagaa	10	14	9	8	1	2	2	1	1	1	1	2	3	2	2	0	1	4	3	0	1	3	5			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr4:89912189C>T	ENST00000264344.5	-	4	747	c.540G>A	c.(538-540)aaG>aaA	p.K180K	FAM13A_ENST00000515600.1_Silent_p.K180K|FAM13A_ENST00000509094.1_Silent_p.K180K|FAM13A_ENST00000502459.1_5'UTR|FAM13A_ENST00000511976.1_Intron	NM_014883.3	NP_055698.2	O94988	FA13A_HUMAN	family with sequence similarity 13, member A	180	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	55						GCACATGATGCTTGGCTACTT	0.413																																						ENST00000264344.5																			0				NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	55						c.(538-540)aaG>aaA		family with sequence similarity 13, member A							147	132	137					4																	89912189		2203	4300	6503	SO:0001819	synonymous_variant	10144				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	g.chr4:89912189C>T	AB020721	CCDS34029.1, CCDS43251.1, CCDS58911.1, CCDS58912.1, CCDS58913.1	4q22.1	2011-09-07	2009-01-20	2009-01-20	ENSG00000138640	ENSG00000138640		"Rho GTPase activating proteins"	19367	protein-coding gene	gene with protein product		613299	"family with sequence similarity 13, member A1"	FAM13A1			Standard	NM_014883		Approved	KIAA0914, ARHGAP48	uc003hse.2	O94988	OTTHUMG00000161006	ENST00000264344.5:c.540G>A	4.37:g.89912189C>T						FAM13A_ENST00000509094.1_Silent_p.K180K|FAM13A_ENST00000511976.1_Intron|FAM13A_ENST00000515600.1_Silent_p.K180K|FAM13A_ENST00000502459.1_5'UTR	p.K180K	NM_014883.3	NP_055698.2	O94988	FA13A_HUMAN			4	747	-			180			Rho-GAP.		B4DLC1|Q24JP0|Q5PR21|Q8NBA3	Silent	SNP	ENST00000264344.5	37	c.540G>A	CCDS34029.1																																																																																				0.413	FAM13A-022	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363371.1			4	76	0	0	0	1	0	4	76					T	89912189	C	T	89912189	2	4	305	1	0	0	0	0	0	0	0	1	5452	796	28	3		3	FAM13A	4	89912189	Silent	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	335022	89912189	101242087	283	14800											
ADH6	130	broad.mit.edu	37	chr4	100134802	100134802	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tccttctccaatactctcaaCgattccagccccttcatggc	8	12	4	17	1	3	0	2	0	2	0	7	1	5	0	5	1	3	0	5	1	3	4	rs201537738		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr4:100134802C>T	ENST00000237653.7	-	3	607	c.223G>A	c.(223-225)Gtt>Att	p.V75I	RP11-696N14.1_ENST00000506160.1_RNA|RP11-696N14.1_ENST00000500358.2_RNA|ADH6_ENST00000407820.2_Intron|ADH6_ENST00000394899.2_Missense_Mutation_p.V75I|ADH6_ENST00000394897.1_Missense_Mutation_p.V75I|RP11-696N14.1_ENST00000506454.1_RNA	NM_000672.3	NP_000663	P28332	ADH6_HUMAN	alcohol dehydrogenase 6 (class V)	75					ethanol oxidation (GO:0006069)|response to ethanol (GO:0045471)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	alcohol dehydrogenase (NAD) activity (GO:0004022)|alcohol dehydrogenase activity, zinc-dependent (GO:0004024)|ethanol binding (GO:0035276)|zinc ion binding (GO:0008270)			breast(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(2)	20				OV - Ovarian serous cystadenocarcinoma(123;3.58e-08)	Abacavir(DB01048)	ATACTCTCAACGATTCCAGCC	0.478																																						ENST00000394897.1																			0				breast(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(2)	20						c.(223-225)Gtt>Att		alcohol dehydrogenase 6 (class V)	Abacavir(DB01048)|NADH(DB00157)	C	ILE/VAL,ILE/VAL	0,4406		0,0,2203	155	131	139		223,223	3.9	0	4		139	2,8598	2.2+/-6.3	0,2,4298	no	missense,missense	ADH6	NM_000672.3,NM_001102470.1	29,29	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	benign,benign	75/369,75/376	100134802	2,13004	2203	4300	6503	SO:0001583	missense	130				ethanol oxidation|response to ethanol|xenobiotic metabolic process	cytosol	alcohol dehydrogenase (NAD) activity|electron carrier activity|zinc ion binding	g.chr4:100134802C>T	AK092768	CCDS3647.1, CCDS43255.1	4q23	2008-02-05			ENSG00000172955	ENSG00000172955	1.1.1.1	"Alcohol dehydrogenases"	255	protein-coding gene	gene with protein product		103735				1881901	Standard	NM_000672		Approved	ADH-5	uc003huo.2	P28332	OTTHUMG00000131024	ENST00000237653.7:c.223G>A	4.37:g.100134802C>T	ENSP00000237653:p.Val75Ile					ADH6_ENST00000237653.7_Missense_Mutation_p.V75I|RP11-696N14.1_ENST00000506454.1_RNA|RP11-696N14.1_ENST00000506160.1_RNA|RP11-696N14.1_ENST00000500358.2_RNA|ADH6_ENST00000407820.2_Intron|ADH6_ENST00000394899.2_Missense_Mutation_p.V75I	p.V75I			P28332	ADH6_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;3.58e-08)	3	305	-			75					B3KS45|Q58F53	Missense_Mutation	SNP	ENST00000237653.7	37	c.223G>A	CCDS3647.1	.	.	.	.	.	.	.	.	.	.	C	13.60	2.286023	0.40394	0.0	2.33E-4	ENSG00000172955	ENST00000394897;ENST00000394899;ENST00000237653;ENST00000508558	T;T;T;T	0.07567	3.18;3.18;3.18;3.18	4.75	3.9	0.45041	GroES-like (1);Alcohol dehydrogenase GroES-like (1);Alcohol dehydrogenase, zinc-type, conserved site (1);	0.124054	0.53938	N	0.000042	T	0.18383	0.0441	M	0.67517	2.055	0.80722	D	1	P;P;P	0.37015	0.512;0.578;0.523	P;B;B	0.49012	0.598;0.204;0.341	T	0.00589	-1.1656	10	0.66056	D	0.02	-14.8493	10.3225	0.43775	0.0:0.8332:0.0:0.1668	.	75;75;75	E9PBI1;P28332;P28332-2	.;ADH6_HUMAN;.	I	75	ENSP00000378358:V75I;ENSP00000378359:V75I;ENSP00000237653:V75I;ENSP00000426187:V75I	ENSP00000237653:V75I	V	-	1	0	ADH6	100353825	0.994000	0.37717	0.003000	0.11579	0.090000	0.18270	3.251000	0.51453	0.991000	0.38814	0.467000	0.42956	GTT		0.478	ADH6-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000253665.1	NM_000672		22	66	0	0	0	1	0	22	66					T	100134802	C	T	100134802	3	4	305	1	0	0	0	0	1	0	0	0	312	536	19	1	936	1	ADH6	4	100134802	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	10222613	100134802	91019474	284	14801											
BANK1	55024	broad.mit.edu	37	chr4	102946626	102946626	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cccccgccgcgacctgtagcTaatgccttccaactggaaag	9	7	9	16	3	0	0	0	0	0	0	1	2	1	1	6	1	3	2	6	1	4	3			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr4:102946626T>C	ENST00000322953.4	+	9	1828	c.1554T>C	c.(1552-1554)gcT>gcC	p.A518A	BANK1_ENST00000510950.1_3'UTR|RP11-498M5.2_ENST00000505091.1_RNA|BANK1_ENST00000428908.1_Silent_p.A385A|BANK1_ENST00000504592.1_Silent_p.A503A|BANK1_ENST00000444316.2_Silent_p.A488A|BANK1_ENST00000508653.1_Silent_p.A385A	NM_017935.4	NP_060405	Q8NDB2	BANK1_HUMAN	B-cell scaffold protein with ankyrin repeats 1	518					B cell activation (GO:0042113)					NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|liver(2)|lung(16)|ovary(2)|skin(2)|urinary_tract(1)	44		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;2.7e-07)		GACCTGTAGCTAATGCCTTCC	0.438																																						ENST00000504592.1																			0				NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|liver(2)|lung(16)|ovary(2)|skin(2)|urinary_tract(1)	44						c.(1507-1509)gcT>gcC		B-cell scaffold protein with ankyrin repeats 1							56	58	57					4																	102946626		2203	4300	6503	SO:0001819	synonymous_variant	55024				B cell activation			g.chr4:102946626T>C	AB063170	CCDS34038.1, CCDS47115.1, CCDS47116.1	4q23	2013-01-11						"Ankyrin repeat domain containing"	18233	protein-coding gene	gene with protein product		610292				11782428, 21208380, 21480188	Standard	NM_017935		Approved	BANK, FLJ20706	uc003hvy.4	Q8NDB2		ENST00000322953.4:c.1554T>C	4.37:g.102946626T>C						BANK1_ENST00000444316.2_Silent_p.A488A|RP11-498M5.2_ENST00000505091.1_RNA|BANK1_ENST00000322953.4_Silent_p.A518A|BANK1_ENST00000428908.1_Silent_p.A385A|BANK1_ENST00000510950.1_3'UTR|BANK1_ENST00000508653.1_Silent_p.A385A	p.A503A			Q8NDB2	BANK1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;2.7e-07)	13	1927	+		Hepatocellular(203;0.217)	518					A8K7W8|B0F3S2|Q8N5K8|Q8NB56|Q8WYN5|Q9NWP2	Silent	SNP	ENST00000322953.4	37	c.1509T>C	CCDS34038.1																																																																																				0.438	BANK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363161.1	NM_017935		6	26	0	0	0	1	0	6	26					C	102946626	T	C	102946626	2	2	305	1	0	0	0	0	0	0	0	1	1309	1509	53	4		4	BANK1	4	102946626	Silent	SNP	T	TCGA-KK-A59V-01A-11D-A29Q-08	2811824	102946626	88207650	285	14802											
SYNPO2	171024	broad.mit.edu	37	chr4	119979079	119979079	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acacccaaggggatggagacGccaaacatgaaagttagaag	17	4	12	8	1	0	3	0	1	0	2	0	5	0	4	2	3	1	1	2	3	5	1	rs185497340		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr4:119979079G>A	ENST00000307142.4	+	5	3972	c.3776G>A	c.(3775-3777)cGc>cAc	p.R1259H	SYNPO2_ENST00000448416.2_3'UTR	NM_133477.2	NP_597734.2	Q9UMS6	SYNP2_HUMAN	synaptopodin 2	0						actin cytoskeleton (GO:0015629)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|Z disc (GO:0030018)	14-3-3 protein binding (GO:0071889)|muscle alpha-actinin binding (GO:0051371)			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(18)|ovary(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						GGATGGAGACGCCAAACATGA	0.383																																						ENST00000307142.4																			0				breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(18)|ovary(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						c.(3775-3777)cGc>cAc		synaptopodin 2							54	52	53					4																	119979079		2203	4300	6503	SO:0001583	missense	171024					nucleus|Z disc	14-3-3 protein binding|actin binding|muscle alpha-actinin binding	g.chr4:119979079G>A	AJ010482	CCDS34054.1, CCDS47128.1, CCDS47129.1, CCDS75185.1, CCDS75186.1	4q26	2008-08-29			ENSG00000172403	ENSG00000172403			17732	protein-coding gene	gene with protein product						11673475, 17828378	Standard	NM_133477		Approved	MYOPODIN	uc010inb.3	Q9UMS6	OTTHUMG00000161165	ENST00000307142.4:c.3776G>A	4.37:g.119979079G>A	ENSP00000306015:p.Arg1259His					SYNPO2_ENST00000448416.2_3'UTR	p.R1259H	NM_133477.2	NP_597734.2	Q9UMS6	SYNP2_HUMAN			5	3972	+			0					B2RWP6|B2Y8J9|Q9UK89|S5XAM4	Missense_Mutation	SNP	ENST00000307142.4	37	c.3776G>A	CCDS34054.1	.	.	.	.	.	.	.	.	.	.	G	12.32	1.901575	0.33535	.	.	ENSG00000172403	ENST00000307142	T	0.10860	2.83	5.76	4.02	0.46733	.	0.572741	0.16954	N	0.192746	T	0.08268	0.0206	L	0.27053	0.805	0.80722	D	1	B;B	0.25206	0.073;0.12	B;B	0.22880	0.019;0.042	T	0.23833	-1.0177	9	.	.	.	-1.7255	11.8972	0.52663	0.1424:0.0:0.8576:0.0	.	1259;1259	B9EG60;Q9UMS6-2	.;.	H	1259	ENSP00000306015:R1259H	.	R	+	2	0	SYNPO2	120198527	0.984000	0.35163	0.998000	0.56505	0.326000	0.28443	1.432000	0.34936	0.787000	0.33731	-0.123000	0.14984	CGC		0.383	SYNPO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364018.1			15	46	0	0	0	1	0	15	46					A	119979079	G	A	119979079	3	1	305	1	0	0	0	0	1	0	0	0	15454	1087	38	1	3906	1	SYNPO2	4	119979079	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	17032453	119979079	71175197	286	14803											
KIAA1109	84162	broad.mit.edu	37	chr4	123260496	123260497	+	Frame_Shift_Del	DEL	TT	TT	-																															actacatatcctgcagagacTttatcccctggaggtaatgc																										TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr4:123260496_123260497delTT	ENST00000264501.4	+	72	12658_12659	c.12285_12286delTT	c.(12283-12288)actttafs	p.L4096fs	KIAA1109_ENST00000388738.3_Frame_Shift_Del_p.L4096fs			Q2LD37	K1109_HUMAN	KIAA1109	4096					regulation of cell growth (GO:0001558)|regulation of epithelial cell differentiation (GO:0030856)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						CTGCAGAGACTTTATCCCCTGG	0.411																																						ENST00000264501.4																			0				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						c.(12283-12288)actafs		KIAA1109																																				SO:0001589	frameshift_variant	84162				regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus		g.chr4:123260496_123260497delTT	AL137384	CCDS43267.1	4q28.1	2012-07-09			ENSG00000138688	ENSG00000138688			26953	protein-coding gene	gene with protein product	"fragile site-associated"	611565				16386706	Standard	NM_015312		Approved	FLJ21404, FSA, KIAA1371, Tweek	uc003ieh.3	Q2LD37	OTTHUMG00000150116	ENST00000264501.4:c.12285_12286delTT	4.37:g.123260496_123260497delTT	ENSP00000264501:p.Leu4096fs					KIAA1109_ENST00000388738.3_Frame_Shift_Del_p.TL4095fs	p.TL4095fs			Q2LD37	K1109_HUMAN			72	12658_12659	+			4095					Q4W598|Q5CZA9|Q6ZS70|Q6ZV75|Q86XA5|Q8WVD8|Q9H742|Q9NT48|Q9NTC3|Q9NTI4|Q9P2H6|Q9UPP3	Frame_Shift_Del	DEL	ENST00000264501.4	37	c.12285_12286delTT	CCDS43267.1																																																																																				0.411	KIAA1109-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316415.1	NM_020797		31	85						31	85	---	---	---	---	-	123260497	TT	-	123260496	7	5	305	1	0	1	0	1	0	0	0	0	8208	1596	56	0	12563	0	KIAA1109	4	123260496	Frame_Shift_Del	DEL	TT	TCGA-KK-A59V-01A-11D-A29Q-08	3281417	123260496	67893780	287	14804											
FAT4	79633	broad.mit.edu	37	chr4	126373019	126373019	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aatccttcacagtctcggacGgtggagatatttgttaatta	11	14	9	7	2	2	1	1	0	1	1	4	3	3	2	1	3	0	1	1	3	4	5			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr4:126373019G>A	ENST00000394329.3	+	9	10861	c.10848G>A	c.(10846-10848)acG>acA	p.T3616T	FAT4_ENST00000335110.5_Silent_p.T1914T	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	3616	Cadherin 34. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						AGTCTCGGACGGTGGAGATAT	0.438																																						ENST00000394329.3																			0				NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						c.(10846-10848)acG>acA		FAT atypical cadherin 4							75	77	76					4																	126373019		2203	4300	6503	SO:0001819	synonymous_variant	79633				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:126373019G>A	AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"Cadherins / Cadherin-related"	23109	protein-coding gene	gene with protein product	"cadherin-related family member 11"	612411	"FAT tumor suppressor homolog 4 (Drosophila)"			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.10848G>A	4.37:g.126373019G>A						FAT4_ENST00000335110.5_Silent_p.T1914T	p.T3616T	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN			9	10861	+			3616			Cadherin 34.		A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Silent	SNP	ENST00000394329.3	37	c.10848G>A	CCDS3732.3																																																																																				0.438	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582		6	98	0	0	0	1	0	6	98					A	126373019	G	A	126373019	2	1	305	1	0	0	0	0	0	0	0	1	5692	1103	39	2		2	FAT4	4	126373019	Silent	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	3112523	126373019	64781257	288	14805											
GYPA	2994	broad.mit.edu	37	chr4	145038028	145038028	+	Intron	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tttatcagtcggcgaataccGtaagaaattaagaggatcgt	14	11	10	6	4	1	2	1	0	0	2	3	4	1	3	1	2	1	1	1	2	6	5	rs140442202		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr4:145038028G>A	ENST00000283126.7	-	1	93				GYPA_ENST00000512064.1_Silent_p.Y99Y|GYPA_ENST00000535709.1_Silent_p.Y86Y|GYPA_ENST00000512789.1_Silent_p.Y47Y|GYPA_ENST00000504786.1_Silent_p.Y80Y|GYPA_ENST00000503627.1_Silent_p.Y67Y|RP11-673E1.4_ENST00000506982.1_RNA|GYPA_ENST00000360771.4_Silent_p.Y112Y|GYPA_ENST00000324022.10_Silent_p.Y79Y			P06028	GLPB_HUMAN	glycophorin B (MNS blood group)							integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				breast(1)|large_intestine(2)|skin(1)	4	all_hematologic(180;0.158)					GGCGAATACCGTAAGAAATTA	0.368																																						ENST00000360771.4																			0				central_nervous_system(2)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)	10						c.(334-336)taC>taT		glycophorin A (MNS blood group)		G		1,4405	2.1+/-5.4	0,1,2202	120	123	122		336	-3	0	4	dbSNP_134	122	0,8600		0,0,4300	no	coding-synonymous	GYPA	NM_002099.6		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		112/151	145038028	1,13005	2203	4300	6503	SO:0001627	intron_variant	2993				interspecies interaction between organisms	membrane fraction	receptor activity	g.chr4:145038028G>A		CCDS54809.1	4q31.21	2014-09-17	2006-02-23			ENSG00000250361		"CD molecules", "Blood group antigens"	4703	protein-coding gene	gene with protein product		111740	"glycophorin B (includes Ss blood group)", "glycophorin B (Ss blood group)"	MNS			Standard	NM_002100		Approved	GPB, SS, CD235b		P06028		ENST00000283126.7:c.37+23723C>T	4.37:g.145038028G>A						GYPA_ENST00000503627.1_Silent_p.Y67Y|RP11-673E1.4_ENST00000506982.1_RNA|GYPA_ENST00000504786.1_Silent_p.Y80Y|GYPA_ENST00000512789.1_Silent_p.Y47Y|GYPA_ENST00000512064.1_Silent_p.Y99Y|GYPA_ENST00000535709.1_Silent_p.Y86Y|GYPA_ENST00000324022.10_Silent_p.Y79Y|GYPB_ENST00000283126.7_Intron	p.Y112Y	NM_002099.6	NP_002090.4	P02724	GLPA_HUMAN			5	451	-	all_hematologic(180;0.15)		112					B8Q174|E2QBW7|Q0VAF4|Q58HE9|Q58HF0|Q58HF1|Q9UCH7	Silent	SNP	ENST00000283126.7	37	c.336C>T																																																																																					0.368	GYPB-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_002100		38	90	0	0	0	1	0	38	90					A	145038028	G	A	145038028	1	1	305	0	1	0	0	0	0	0	0	0	6908	1140	40	1		1	GYPA	4	145038028	Intron	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	18665009	145038028	46116248	289	14806											
FSTL5	56884	broad.mit.edu	37	chr4	162680660	162680660	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtacaatcaaagagatccttGccaagttcttcctgttttat	11	15	6	9	0	2	1	1	0	1	1	4	2	4	1	3	0	2	3	3	0	5	6			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr4:162680660G>A	ENST00000306100.5	-	6	1066	c.630C>T	c.(628-630)ggC>ggT	p.G210G	FSTL5_ENST00000536695.1_Silent_p.G209G|FSTL5_ENST00000427802.2_Silent_p.G209G|FSTL5_ENST00000379164.4_Silent_p.G209G	NM_001128427.2|NM_020116.4	NP_001121899.1|NP_064501.2	Q8N475	FSTL5_HUMAN	follistatin-like 5	210	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.					extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		AGAGATCCTTGCCAAGTTCTT	0.284																																						ENST00000306100.5																			0				central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91						c.(628-630)ggC>ggT		follistatin-like 5							85	93	90					4																	162680660		2203	4300	6503	SO:0001819	synonymous_variant	56884					extracellular region	calcium ion binding	g.chr4:162680660G>A	BC036502	CCDS3802.1, CCDS47157.1, CCDS47158.1	4q32.3	2013-01-11			ENSG00000168843	ENSG00000168843		"EF-hand domain containing", "Immunoglobulin superfamily / I-set domain containing"	21386	protein-coding gene	gene with protein product						10574462, 15527507	Standard	NM_020116		Approved	DKFZp566D234, KIAA1263	uc003iqh.4	Q8N475	OTTHUMG00000161397	ENST00000306100.5:c.630C>T	4.37:g.162680660G>A						FSTL5_ENST00000427802.2_Silent_p.G209G|FSTL5_ENST00000379164.4_Silent_p.G209G|FSTL5_ENST00000536695.1_Silent_p.G209G	p.G210G	NM_001128427.2|NM_020116.4	NP_001121899.1|NP_064501.2	Q8N475	FSTL5_HUMAN		COAD - Colon adenocarcinoma(41;0.179)	6	1066	-	all_hematologic(180;0.24)		210			EF-hand 1.		E9PCP6|Q9NSW7|Q9ULF7	Silent	SNP	ENST00000306100.5	37	c.630C>T	CCDS3802.1																																																																																				0.284	FSTL5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364773.2	NM_020116		17	50	0	0	0	1	0	17	50					A	162680660	G	A	162680660	2	1	305	1	0	0	0	0	0	0	0	1	6080	1306	46	3		3	FSTL5	4	162680660	Silent	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	17642632	162680660	28473616	290	14807											
TRIM60	166655	broad.mit.edu	37	chr4	165962457	165962457	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cagcttctgccagtagtaaaAcccagtaaaattggtatttt	13	13	7	8	0	1	0	0	0	1	0	1	0	1	0	2	1	3	5	2	1	6	8			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr4:165962457A>G	ENST00000512596.1	+	3	1449	c.1233A>G	c.(1231-1233)aaA>aaG	p.K411K	TRIM60_ENST00000341062.5_Silent_p.K411K|TRIM60_ENST00000508504.1_Silent_p.K411K	NM_152620.2	NP_689833.1	Q495X7	TRI60_HUMAN	tripartite motif containing 60	411	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.					intracellular (GO:0005622)	zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(3)|large_intestine(6)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	29	all_hematologic(180;0.221)	Prostate(90;0.0959)|Melanoma(52;0.18)		GBM - Glioblastoma multiforme(119;0.0844)		CAGTAGTAAAACCCAGTAAAA	0.398																																						ENST00000512596.1																			0				NS(1)|breast(2)|endometrium(3)|large_intestine(6)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	29						c.(1231-1233)aaA>aaG		tripartite motif containing 60							99	104	102					4																	165962457		2203	4300	6503	SO:0001819	synonymous_variant	166655					intracellular	zinc ion binding	g.chr4:165962457A>G	AK093201	CCDS3808.1	4q32.3	2013-01-09	2011-01-25	2004-11-17	ENSG00000176979	ENSG00000176979		"RING-type (C3HC4) zinc fingers", "Tripartite motif containing / Tripartite motif containing"	21162	protein-coding gene	gene with protein product			"ring finger protein 129", "tripartite motif-containing 60"	RNF129, RNF33			Standard	NM_152620		Approved	FLJ35882	uc003iqy.1	Q495X7	OTTHUMG00000161262	ENST00000512596.1:c.1233A>G	4.37:g.165962457A>G						TRIM60_ENST00000341062.5_Silent_p.K411K|TRIM60_ENST00000508504.1_Silent_p.K411K	p.K411K	NM_152620.2	NP_689833.1	Q495X7	TRI60_HUMAN		GBM - Glioblastoma multiforme(119;0.0844)	3	1449	+	all_hematologic(180;0.221)	Prostate(90;0.0959)|Melanoma(52;0.18)	411			B30.2/SPRY.		Q8NA35	Silent	SNP	ENST00000512596.1	37	c.1233A>G	CCDS3808.1																																																																																				0.398	TRIM60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364325.1	NM_152620		25	74	0	0	0	1	0	25	74					G	165962457	A	G	165962457	2	3	305	1	0	0	0	0	0	0	0	1	16532	40	2	4		4	TRIM60	4	165962457	Silent	SNP	A	TCGA-KK-A59V-01A-11D-A29Q-08	3281797	165962457	25191819	291	14808											
ACSL1	2180	broad.mit.edu	37	chr4	185697797	185697797	+	Frame_Shift_Del	DEL	A	A	-																															gccttctctggcttgtcaacAaaaaccagagagagttcagc																										TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr4:185697797delA	ENST00000515030.1	-	7	922	c.597delT	c.(595-597)tttfs	p.F199fs	ACSL1_ENST00000504342.1_Frame_Shift_Del_p.F199fs|ACSL1_ENST00000454703.2_Frame_Shift_Del_p.F28fs|ACSL1_ENST00000437665.3_Frame_Shift_Del_p.F28fs|ACSL1_ENST00000513317.1_Frame_Shift_Del_p.F199fs|ACSL1_ENST00000504900.1_Frame_Shift_Del_p.F199fs|ACSL1_ENST00000281455.2_Frame_Shift_Del_p.F199fs|ACSL1_ENST00000507295.1_Frame_Shift_Del_p.F165fs			P33121	ACSL1_HUMAN	acyl-CoA synthetase long-chain family member 1	199					adiponectin-activated signaling pathway (GO:0033211)|alpha-linolenic acid metabolic process (GO:0036109)|cellular lipid metabolic process (GO:0044255)|linoleic acid metabolic process (GO:0043651)|lipid biosynthetic process (GO:0008610)|long-chain fatty acid import (GO:0044539)|long-chain fatty acid metabolic process (GO:0001676)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|response to drug (GO:0042493)|response to nutrient (GO:0007584)|response to oleic acid (GO:0034201)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|unsaturated fatty acid metabolic process (GO:0033559)|xenobiotic catabolic process (GO:0042178)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|peroxisomal membrane (GO:0005778)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|long-chain fatty acid-CoA ligase activity (GO:0004467)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|liver(1)|lung(17)|ovary(2)|prostate(1)|skin(2)	38		all_lung(41;7.57e-14)|Lung NSC(41;1.81e-13)|Colorectal(36;0.00172)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0315)|all_neural(102;0.107)|Medulloblastoma(177;0.146)		all cancers(43;1.33e-28)|Epithelial(43;5.3e-25)|OV - Ovarian serous cystadenocarcinoma(60;4.88e-11)|Colorectal(24;3.59e-06)|STAD - Stomach adenocarcinoma(60;2.72e-05)|GBM - Glioblastoma multiforme(59;2.83e-05)|BRCA - Breast invasive adenocarcinoma(30;7.66e-05)|COAD - Colon adenocarcinoma(29;0.000538)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.0419)	Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	GCTTGTCAACAAAAACCAGAG	0.393																																						ENST00000515030.1																			0				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|liver(1)|lung(17)|ovary(2)|prostate(1)|skin(2)	38						c.(595-597)ttfs		acyl-CoA synthetase long-chain family member 1	Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)						70	71	70					4																	185697797		2203	4300	6503	SO:0001589	frameshift_variant	2180				digestion|fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|regulation of fatty acid oxidation|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane	ATP binding|long-chain fatty acid-CoA ligase activity	g.chr4:185697797delA	BC026290	CCDS3839.1, CCDS68825.1, CCDS68826.1, CCDS75213.1	4q35.1	2014-08-08	2004-02-19	2004-02-20	ENSG00000151726	ENSG00000151726	6.2.1.3	"Acyl-CoA synthetase family"	3569	protein-coding gene	gene with protein product	"lignoceroyl-CoA synthase", "long-chain fatty-acid-coenzyme A ligase 1"	152425	"fatty-acid-Coenzyme A ligase, long-chain 2"	FACL2		2341402, 1531127	Standard	XM_005262828		Approved	LACS2, LACS, ACS1, LACS1, FACL1	uc003iwu.1	P33121	OTTHUMG00000160547	ENST00000515030.1:c.597delT	4.37:g.185697797delA	ENSP00000422607:p.Phe199fs					ACSL1_ENST00000454703.2_Frame_Shift_Del_p.F28fs|ACSL1_ENST00000507295.1_Frame_Shift_Del_p.F165fs|ACSL1_ENST00000513317.1_Frame_Shift_Del_p.F199fs|ACSL1_ENST00000281455.2_Frame_Shift_Del_p.F199fs|ACSL1_ENST00000437665.3_Frame_Shift_Del_p.F28fs|ACSL1_ENST00000504900.1_Frame_Shift_Del_p.F199fs|ACSL1_ENST00000504342.1_Frame_Shift_Del_p.F199fs	p.F199fs			P33121	ACSL1_HUMAN		all cancers(43;1.33e-28)|Epithelial(43;5.3e-25)|OV - Ovarian serous cystadenocarcinoma(60;4.88e-11)|Colorectal(24;3.59e-06)|STAD - Stomach adenocarcinoma(60;2.72e-05)|GBM - Glioblastoma multiforme(59;2.83e-05)|BRCA - Breast invasive adenocarcinoma(30;7.66e-05)|COAD - Colon adenocarcinoma(29;0.000538)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.0419)	7	922	-		all_lung(41;7.57e-14)|Lung NSC(41;1.81e-13)|Colorectal(36;0.00172)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0315)|all_neural(102;0.107)|Medulloblastoma(177;0.146)	199					B7Z452|D3DP57|P41215|Q8N8V7|Q8TA99	Frame_Shift_Del	DEL	ENST00000515030.1	37	c.597delT	CCDS3839.1																																																																																				0.393	ACSL1-011	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361112.2	NM_001995		16	39						16	39	---	---	---	---	-	185697797	A	-	185697797	7	5	305	1	0	1	0	1	0	0	0	0	177	127	5	0	1559	0	ACSL1	4	185697797	Frame_Shift_Del	DEL	A	TCGA-KK-A59V-01A-11D-A29Q-08	19735340	185697797	5456479	292	14809											
CYP4V2	285440	broad.mit.edu	37	chr4	187130278	187130278	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gttctaaaaggcactgaagcCgtcatcattccctatgcatt	11	12	7	11	1	3	1	2	1	1	0	4	1	4	1	2	1	2	3	2	1	4	5			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr4:187130278C>T	ENST00000378802.4	+	10	1561	c.1257C>T	c.(1255-1257)gcC>gcT	p.A419A	CYP4V2_ENST00000502665.1_3'UTR	NM_207352.3	NP_997235.3	Q6ZWL3	CP4V2_HUMAN	cytochrome P450, family 4, subfamily V, polypeptide 2	419					fatty acid omega-oxidation (GO:0010430)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen (GO:0016705)			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|skin(1)|stomach(2)	20		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.33e-10)|BRCA - Breast invasive adenocarcinoma(30;3.84e-05)|GBM - Glioblastoma multiforme(59;0.000132)|STAD - Stomach adenocarcinoma(60;0.000293)|LUSC - Lung squamous cell carcinoma(40;0.00242)|READ - Rectum adenocarcinoma(43;0.17)		GCACTGAAGCCGTCATCATTC	0.502																																						ENST00000378802.4																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|skin(1)|stomach(2)	20						c.(1255-1257)gcC>gcT		cytochrome P450, family 4, subfamily V, polypeptide 2							118	110	112					4																	187130278		2203	4300	6503	SO:0001819	synonymous_variant	285440				response to stimulus|visual perception	endoplasmic reticulum membrane|integral to membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen	g.chr4:187130278C>T	AK022114	CCDS34119.1	4q35.2	2004-07-05			ENSG00000145476	ENSG00000145476		"Cytochrome P450s"	23198	protein-coding gene	gene with protein product		608614				15042513	Standard	NM_207352		Approved	CYP4AH1	uc003iyw.4	Q6ZWL3	OTTHUMG00000160379	ENST00000378802.4:c.1257C>T	4.37:g.187130278C>T						CYP4V2_ENST00000502665.1_3'UTR	p.A419A	NM_207352.3	NP_997235.3	Q6ZWL3	CP4V2_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.33e-10)|BRCA - Breast invasive adenocarcinoma(30;3.84e-05)|GBM - Glioblastoma multiforme(59;0.000132)|STAD - Stomach adenocarcinoma(60;0.000293)|LUSC - Lung squamous cell carcinoma(40;0.00242)|READ - Rectum adenocarcinoma(43;0.17)	10	1561	+		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)	419					B7U6W2|Q6ZTM4	Silent	SNP	ENST00000378802.4	37	c.1257C>T	CCDS34119.1	.	.	.	.	.	.	.	.	.	.	C	6.727	0.502944	0.12822	.	.	ENSG00000164344	ENST00000511608	.	.	.	5.18	-10.4	0.00318	.	.	.	.	.	T	0.20981	0.0505	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.11518	-1.0584	4	.	.	.	.	5.8587	0.18734	0.1069:0.5144:0.1816:0.1972	.	.	.	.	L	18	.	.	P	+	2	0	KLKB1	187367272	0.000000	0.05858	0.000000	0.03702	0.627000	0.37826	-2.810000	0.00755	-2.524000	0.00495	0.655000	0.94253	CCG		0.502	CYP4V2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360398.1	XM_209612		6	133	0	0	0	1	0	6	133					T	187130278	C	T	187130278	2	4	305	1	0	0	0	0	0	0	0	1	4192	639	23	2		2	CYP4V2	4	187130278	Silent	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	1432481	187130278	4023998	293	14810											
TPPP	11076	broad.mit.edu	37	chr5	666151	666151	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acctcgcgaacggcctcctcGctgctcttgtctttgaatcg	5	12	9	15	5	2	1	0	1	2	0	6	2	3	1	3	1	2	2	3	1	2	2	rs370610823		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr5:666151G>T	ENST00000360578.5	-	3	520	c.399C>A	c.(397-399)agC>agA	p.S133R	AC026740.1_ENST00000594226.1_5'Flank|CEP72_ENST00000514507.1_3'UTR	NM_007030.2	NP_008961.1	O94811	TPPP_HUMAN	tubulin polymerization promoting protein	133					microtubule bundle formation (GO:0001578)|microtubule polymerization (GO:0046785)|positive regulation of protein complex assembly (GO:0031334)|positive regulation of protein polymerization (GO:0032273)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	microtubule binding (GO:0008017)|tubulin binding (GO:0015631)			kidney(1)|large_intestine(1)|lung(2)|prostate(1)	5		Ovarian(839;0.0563)	Epithelial(17;0.000445)|all cancers(22;0.00176)|OV - Ovarian serous cystadenocarcinoma(19;0.00227)|Lung(60;0.0863)	GBM - Glioblastoma multiforme(108;0.0191)		CGGCCTCCTCGCTGCTCTTGT	0.632																																						ENST00000360578.5																			0				kidney(1)|large_intestine(1)|lung(2)|prostate(1)	5						c.(397-399)agC>agA		tubulin polymerization promoting protein							102	91	95					5																	666151		2203	4300	6503	SO:0001583	missense	11076				microtubule bundle formation|microtubule polymerization|positive regulation of protein polymerization	nucleus|perinuclear region of cytoplasm|soluble fraction	calcium ion binding|microtubule binding	g.chr5:666151G>T	AB017016	CCDS3856.1	5p15.33	2008-02-05			ENSG00000171368	ENSG00000171368			24164	protein-coding gene	gene with protein product	"brain specific protein p25 alpha"	608773				10083737, 12093283, 15590652, 17105200	Standard	NM_007030		Approved	p25alpha, TPPP1, p25, TPPP/p25	uc003jbh.4	O94811	OTTHUMG00000131011	ENST00000360578.5:c.399C>A	5.37:g.666151G>T	ENSP00000353785:p.Ser133Arg					CEP72_ENST00000514507.1_3'UTR	p.S133R	NM_007030.2	NP_008961.1	O94811	TPPP_HUMAN	Epithelial(17;0.000445)|all cancers(22;0.00176)|OV - Ovarian serous cystadenocarcinoma(19;0.00227)|Lung(60;0.0863)	GBM - Glioblastoma multiforme(108;0.0191)	3	520	-		Ovarian(839;0.0563)	133						Missense_Mutation	SNP	ENST00000360578.5	37	c.399C>A	CCDS3856.1	.	.	.	.	.	.	.	.	.	.	g	1.554	-0.538347	0.04082	.	.	ENSG00000171368	ENST00000360578	T	0.41400	1.0	4.39	-0.926	0.10455	EF-hand-like domain (1);	1.135170	0.06311	N	0.702758	T	0.18215	0.0437	N	0.08118	0	0.24354	N	0.99491	B	0.23891	0.093	B	0.24394	0.053	T	0.16335	-1.0406	10	0.15499	T	0.54	-8.327	1.3805	0.02229	0.2983:0.2393:0.3402:0.1223	.	133	O94811	TPPP_HUMAN	R	133	ENSP00000353785:S133R	ENSP00000353785:S133R	S	-	3	2	TPPP	719151	0.000000	0.05858	0.019000	0.16419	0.017000	0.09413	-3.055000	0.00626	-0.483000	0.06772	-0.266000	0.10368	AGC		0.632	TPPP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253645.3	NM_007030		5	112	1	0	0.184627	1	0.184969	5	112					T	666151	G	T	666151	3	4	305	1	0	0	0	0	1	0	0	0	16410	1078	38	5	268	5	TPPP	5	666151	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08		666151	180249109	294	14811											
LPCAT1	79888	broad.mit.edu	37	chr5	1470989	1470989	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtccgggccggccggcagacGacagacagggcaaccacaca	11	1	14	15	4	0	2	0	0	0	2	1	3	1	2	4	4	1	2	4	4	1	0			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr5:1470989G>A	ENST00000283415.3	-	12	1362	c.1230C>T	c.(1228-1230)gtC>gtT	p.V410V		NM_024830.3	NP_079106.3	Q8NF37	PCAT1_HUMAN	lysophosphatidylcholine acyltransferase 1	410	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.				cellular lipid metabolic process (GO:0044255)|glycerophospholipid biosynthetic process (GO:0046474)|negative regulation of phosphatidylcholine biosynthetic process (GO:2001246)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phospholipid biosynthetic process (GO:0008654)|phospholipid metabolic process (GO:0006644)|positive regulation of protein catabolic process (GO:0045732)|retina development in camera-type eye (GO:0060041)|small molecule metabolic process (GO:0044281)|surfactant homeostasis (GO:0043129)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lipid particle (GO:0005811)|membrane (GO:0016020)	1-acylglycerophosphocholine O-acyltransferase activity (GO:0047184)|1-alkenylglycerophosphocholine O-acyltransferase activity (GO:0047159)|1-alkylglycerophosphocholine O-acetyltransferase activity (GO:0047192)|1-alkylglycerophosphocholine O-acyltransferase activity (GO:0047191)|calcium ion binding (GO:0005509)			breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(12)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30			OV - Ovarian serous cystadenocarcinoma(19;0.0274)|all cancers(22;0.0534)	GBM - Glioblastoma multiforme(108;0.156)		GCCGGCAGACGACAGACAGGG	0.657																																						ENST00000283415.3																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(12)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						c.(1228-1230)gtC>gtT		lysophosphatidylcholine acyltransferase 1							75	79	78					5																	1470989		2203	4300	6503	SO:0001819	synonymous_variant	79888				phospholipid biosynthetic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane	1-acylglycerophosphocholine O-acyltransferase activity|1-alkylglycerophosphocholine O-acetyltransferase activity|calcium ion binding	g.chr5:1470989G>A	BC020166	CCDS3864.1	5p15.33	2013-01-10	2007-12-17	2007-12-17	ENSG00000153395	ENSG00000153395		"EF-hand domain containing"	25718	protein-coding gene	gene with protein product		610472	"acyltransferase like 2"	AYTL2		8619474, 16704971	Standard	NM_024830		Approved	FLJ12443	uc003jcm.3	Q8NF37	OTTHUMG00000131017	ENST00000283415.3:c.1230C>T	5.37:g.1470989G>A							p.V410V	NM_024830.3	NP_079106.3	Q8NF37	PCAT1_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;0.0274)|all cancers(22;0.0534)	GBM - Glioblastoma multiforme(108;0.156)	12	1362	-			410			EF-hand 1.		Q1HAQ1|Q7Z4G6|Q8N3U7|Q8WUL8|Q9GZW6	Silent	SNP	ENST00000283415.3	37	c.1230C>T	CCDS3864.1																																																																																				0.657	LPCAT1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000304032.1	NM_024830		40	103	0	0	0	1	0	40	103					A	1470989	G	A	1470989	2	1	305	1	0	0	0	0	0	0	0	1	8910	1045	37	2		2	LPCAT1	5	1470989	Silent	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	804838	1470989	179444271	295	14812											
KIAA0947	23379	broad.mit.edu	37	chr5	5462084	5462084	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gccaaattggaacacttgagGccacatagggttgagcctac	12	8	11	10	0	0	2	0	2	0	0	0	3	0	3	3	3	3	1	3	3	4	5			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr5:5462084G>A	ENST00000296564.7	+	13	2859	c.2637G>A	c.(2635-2637)agG>agA	p.R879R		NM_015325.2	NP_056140.1	Q9Y2F5	ICE1_HUMAN		879					positive regulation of intracellular protein transport (GO:0090316)|positive regulation of protein complex assembly (GO:0031334)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|snRNA transcription from RNA polymerase II promoter (GO:0042795)|snRNA transcription from RNA polymerase III promoter (GO:0042796)	Cajal body (GO:0015030)|histone locus body (GO:0035363)|transcription elongation factor complex (GO:0008023)|transcriptionally active chromatin (GO:0035327)	protein homodimerization activity (GO:0042803)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	35						AACACTTGAGGCCACATAGGG	0.418																																						ENST00000296564.7																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	35						c.(2635-2637)agG>agA		KIAA0947							94	91	92					5																	5462084		1893	4133	6026	SO:0001819	synonymous_variant	23379							g.chr5:5462084G>A																												ENST00000296564.7:c.2637G>A	5.37:g.5462084G>A							p.R879R	NM_015325.2	NP_056140.1	Q9Y2F5	K0947_HUMAN			13	2859	+			879					Q68DE1|Q6ZT40|Q7L587|Q7Z3A9|Q9NTH9	Silent	SNP	ENST00000296564.7	37	c.2637G>A	CCDS47187.1																																																																																				0.418	KIAA0947-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365575.1			29	91	0	0	0	1	0	29	91					A	5462084	G	A	5462084	2	1	305	1	0	0	0	0	0	0	0	1	8202	1194	42	3		3	KIAA0947	5	5462084	Silent	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	3991095	5462084	175453176	296	14813											
FAM173B	134145	broad.mit.edu	37	chr5	10227710	10227710	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggaaccggcaagcaataactCgtgcatcatcctcaagttca	13	8	8	12	2	3	0	3	0	0	0	5	1	4	1	2	2	4	4	2	2	5	2	rs371836379		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr5:10227710C>T	ENST00000511437.1	-	5	557	c.545G>A	c.(544-546)cGa>cAa	p.R182Q	FAM173B_ENST00000510052.1_5'UTR|FAM173B_ENST00000280330.8_Missense_Mutation_p.R18Q|FAM173B_ENST00000510047.1_Missense_Mutation_p.R165Q	NM_199133.3	NP_954584.2	Q6P4H8	F173B_HUMAN	family with sequence similarity 173, member B	182						integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	16						AGCAATAACTCGTGCATCATC	0.478																																						ENST00000280330.8																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	16						c.(52-54)cGa>cAa		family with sequence similarity 173, member B		C	GLN/ARG	1,3933		0,1,1966	120	113	115		545	5.2	0.3	5		115	0,8308		0,0,4154	no	missense	FAM173B	NM_199133.2	43	0,1,6120	TT,TC,CC		0.0,0.0254,0.0082	probably-damaging	182/234	10227710	1,12241	1967	4154	6121	SO:0001583	missense	134145					integral to membrane		g.chr5:10227710C>T		CCDS43301.1, CCDS58942.1	5p15.2	2008-08-08			ENSG00000150756	ENSG00000150756			27029	protein-coding gene	gene with protein product						12477932	Standard	NM_199133		Approved		uc003jeo.3	Q6P4H8	OTTHUMG00000161771	ENST00000511437.1:c.545G>A	5.37:g.10227710C>T	ENSP00000422338:p.Arg182Gln					FAM173B_ENST00000511437.1_Missense_Mutation_p.R182Q|FAM173B_ENST00000510052.1_5'UTR|FAM173B_ENST00000510047.1_Missense_Mutation_p.R165Q	p.R18Q			Q6P4H8	F173B_HUMAN			6	659	-			182					B4DT41|B4DXK2|E9PBZ4	Missense_Mutation	SNP	ENST00000511437.1	37	c.53G>A	CCDS43301.1	.	.	.	.	.	.	.	.	.	.	C	14.34	2.506479	0.44558	2.54E-4	0.0	ENSG00000150756	ENST00000280330;ENST00000511437;ENST00000510047	T;T;T	0.21734	1.99;1.99;1.99	5.17	5.17	0.71159	.	0.201962	0.48286	D	0.000184	T	0.24198	0.0586	L	0.48174	1.505	0.35395	D	0.791066	D;P	0.57257	0.979;0.66	B;B	0.43680	0.427;0.121	T	0.21518	-1.0243	10	0.39692	T	0.17	-14.1057	17.6177	0.88072	0.0:1.0:0.0:0.0	.	165;182	E9PBZ4;Q6P4H8	.;F173B_HUMAN	Q	18;182;165	ENSP00000280330:R18Q;ENSP00000422338:R182Q;ENSP00000420876:R165Q	ENSP00000280330:R18Q	R	-	2	0	FAM173B	10280710	1.000000	0.71417	0.337000	0.25536	0.361000	0.29550	5.067000	0.64357	2.571000	0.86741	0.650000	0.86243	CGA		0.478	FAM173B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000366048.2	NM_199133		18	43	0	0	0	1	0	18	43					T	10227710	C	T	10227710	3	4	305	1	0	0	0	0	1	0	0	0	5494	884	31	2	160	2	FAM173B	5	10227710	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	4765626	10227710	170687550	297	14814											
CMBL	134147	broad.mit.edu	37	chr5	10290659	10290659	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gaaacacaactttatacataCgtgtatccatttcctgagat	14	13	5	9	1	0	1	0	1	0	1	2	3	2	1	2	0	4	1	2	0	6	6			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr5:10290659C>T	ENST00000296658.3	-	2	636		c.e2+1		CMBL_ENST00000510532.1_Splice_Site|Y_RNA_ENST00000516532.1_RNA	NM_138809.3	NP_620164.1	Q96DG6	CMBL_HUMAN	carboxymethylenebutenolidase homolog (Pseudomonas)							cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	hydrolase activity (GO:0016787)			endometrium(1)|large_intestine(1)|lung(9)|skin(1)|stomach(1)	13						TTTATACATACGTGTATCCAT	0.348																																						ENST00000296658.3																			0				endometrium(1)|large_intestine(1)|lung(9)|skin(1)|stomach(1)	13						c.e2+1		carboxymethylenebutenolidase homolog (Pseudomonas)							71	70	70					5																	10290659		2203	4300	6503	SO:0001630	splice_region_variant	134147					cytosol	hydrolase activity|protein binding	g.chr5:10290659C>T		CCDS3878.1	5p15.2	2010-06-25	2006-09-12		ENSG00000164237	ENSG00000164237	3.1.-.-		25090	protein-coding gene	gene with protein product		613379	"carboxymethylenebutenolidase-like (Pseudomonas)"			3804974, 20177059	Standard	NM_138809		Approved	FLJ23617	uc003jes.3	Q96DG6	OTTHUMG00000131043	ENST00000296658.3:c.215+1G>A	5.37:g.10290659C>T						CMBL_ENST00000510532.1_Splice_Site		NM_138809.3	NP_620164.1	Q96DG6	CMBL_HUMAN			2	636	-								D3DTC7|Q8TED6	Splice_Site	SNP	ENST00000296658.3	37		CCDS3878.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.012870	0.75161	.	.	ENSG00000164237	ENST00000296658	.	.	.	5.46	5.46	0.80206	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.2909	0.90130	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CMBL	10343659	1.000000	0.71417	0.999000	0.59377	0.775000	0.43874	6.877000	0.75562	2.564000	0.86499	0.650000	0.86243	.		0.348	CMBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253689.1	NM_138809	Intron	30	63	0	0	0	1	0	30	63					T	10290659	C	T	10290659	5	4	305	1	0	0	0	0	0	0	1	0	3576	550	19	1	541	1	CMBL	5	10290659	Splice_Site	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	62949	10290659	170624601	298	14815											
CTNND2	1501	broad.mit.edu	37	chr5	11082852	11082852	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccaaggccatgttccgcagcGcagtggccaccgcgcacacc	8	4	11	18	4	0	0	0	0	0	0	1	0	1	0	6	2	1	4	6	2	1	1	rs139037354		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr5:11082852G>A	ENST00000304623.8	-	16	2933	c.2744C>T	c.(2743-2745)gCg>gTg	p.A915V	CTNND2_ENST00000359640.2_Missense_Mutation_p.A857V|CTNND2_ENST00000503622.1_Missense_Mutation_p.A578V|CTNND2_ENST00000511377.1_Missense_Mutation_p.A824V|CTNND2_ENST00000495388.2_5'UTR|CTNND2_ENST00000458100.2_Missense_Mutation_p.A482V	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	915					cell adhesion (GO:0007155)|learning (GO:0007612)|morphogenesis of a branching structure (GO:0001763)|multicellular organismal development (GO:0007275)|regulation of synaptic plasticity (GO:0048167)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						GTTCCGCAGCGCAGTGGCCAC	0.512																																						ENST00000304623.8																			0				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						c.(2743-2745)gCg>gTg		catenin (cadherin-associated protein), delta 2		G	VAL/ALA	1,4405	2.1+/-5.4	0,1,2202	131	114	120		2744	5	0.6	5	dbSNP_134	120	0,8600		0,0,4300	no	missense	CTNND2	NM_001332.2	64	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	915/1226	11082852	1,13005	2203	4300	6503	SO:0001583	missense	1501				multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding	g.chr5:11082852G>A	U52828	CCDS3881.1, CCDS75227.1, CCDS75228.1	5p15.2	2013-02-14	2012-08-15		ENSG00000169862	ENSG00000169862		"Armadillo repeat containing"	2516	protein-coding gene	gene with protein product	"neural plakophilin-related arm-repeat protein"	604275	"catenin (cadherin-associated protein), delta 2 (neural plakophilin-related arm-repeat protein)"			9342840, 9223106	Standard	XM_005248251		Approved	NPRAP, GT24	uc003jfa.1	Q9UQB3	OTTHUMG00000090511	ENST00000304623.8:c.2744C>T	5.37:g.11082852G>A	ENSP00000307134:p.Ala915Val					CTNND2_ENST00000495388.2_5'UTR|CTNND2_ENST00000359640.2_Missense_Mutation_p.A857V|CTNND2_ENST00000503622.1_Missense_Mutation_p.A578V|CTNND2_ENST00000511377.1_Missense_Mutation_p.A824V|CTNND2_ENST00000458100.2_Missense_Mutation_p.A482V	p.A915V	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN			16	2933	-			915					B0FTZ7|O00379|O15390|O43206|O43840|Q13589|Q9UM66|Q9UPM3	Missense_Mutation	SNP	ENST00000304623.8	37	c.2744C>T	CCDS3881.1	.	.	.	.	.	.	.	.	.	.	G	34	5.305593	0.95601	2.27E-4	0.0	ENSG00000169862	ENST00000304623;ENST00000359640;ENST00000511377;ENST00000538638;ENST00000458100;ENST00000503622	T;T;T;T;T	0.79454	-1.27;-1.27;-1.27;-1.27;-1.27	5.04	5.04	0.67666	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.90428	0.7003	M	0.89785	3.06	0.80722	D	1	D;D;D	0.89917	0.999;0.999;1.0	D;D;D	0.81914	0.995;0.995;0.993	D	0.92363	0.5899	10	0.87932	D	0	-15.7291	18.7557	0.91832	0.0:0.0:1.0:0.0	.	578;507;915	B4DRK2;B4DG58;Q9UQB3	.;.;CTND2_HUMAN	V	915;857;824;10;482;578	ENSP00000307134:A915V;ENSP00000352661:A857V;ENSP00000426510:A824V;ENSP00000391155:A482V;ENSP00000426887:A578V	ENSP00000307134:A915V	A	-	2	0	CTNND2	11135852	1.000000	0.71417	0.621000	0.29145	0.925000	0.55904	9.813000	0.99286	2.505000	0.84491	0.563000	0.77884	GCG		0.512	CTNND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206999.1	NM_001332		23	83	0	0	0	1	0	23	83					A	11082852	G	A	11082852	3	1	305	1	0	0	0	0	1	0	0	0	4020	1087	38	1	961	1	CTNND2	5	11082852	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	792193	11082852	169832408	299	14816											
TRIO	7204	broad.mit.edu	37	chr5	14366990	14366990	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgctgggttggatccgcaacGgagagtccatgttaaatgcc	9	10	13	9	2	0	1	0	0	0	1	2	3	2	2	3	3	3	4	3	3	3	2			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr5:14366990G>A	ENST00000344204.4	+	16	2800	c.2776G>A	c.(2776-2778)Gga>Aga	p.G926R	TRIO_ENST00000509967.2_Missense_Mutation_p.G877R|TRIO_ENST00000537187.1_Missense_Mutation_p.G926R	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	926					apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	cytosol (GO:0005829)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					GATCCGCAACGGAGAGTCCAT	0.537																																						ENST00000344204.4																			0				NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118						c.(2776-2778)Gga>Aga		trio Rho guanine nucleotide exchange factor							143	131	135					5																	14366990		2203	4300	6503	SO:0001583	missense	7204				apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity	g.chr5:14366990G>A	AF091395	CCDS3883.1	5p14-p15.1	2013-01-11	2012-07-12		ENSG00000038382	ENSG00000038382		"Rho guanine nucleotide exchange factors", "Immunoglobulin superfamily / I-set domain containing"	12303	protein-coding gene	gene with protein product		601893	"triple functional domain (PTPRF interacting)"			8643598	Standard	NM_007118		Approved	ARHGEF23	uc003jff.3	O75962	OTTHUMG00000131057	ENST00000344204.4:c.2776G>A	5.37:g.14366990G>A	ENSP00000339299:p.Gly926Arg					TRIO_ENST00000537187.1_Missense_Mutation_p.G926R|TRIO_ENST00000509967.2_Missense_Mutation_p.G877R	p.G926R	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN			16	2800	+	Lung NSC(4;0.000742)		926					D3DTD1|Q13458|Q59EQ7|Q6PJC9|Q6ZN05|Q8IWK8	Missense_Mutation	SNP	ENST00000344204.4	37	c.2776G>A	CCDS3883.1	.	.	.	.	.	.	.	.	.	.	G	24.9	4.587028	0.86851	.	.	ENSG00000038382	ENST00000344204;ENST00000537187;ENST00000509967;ENST00000513206	T;T;T	0.48201	0.82;0.82;0.82	5.91	5.91	0.95273	.	0.052179	0.85682	D	0.000000	T	0.65954	0.2741	L	0.52905	1.665	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;0.966;1.0	T	0.58370	-0.7648	10	0.31617	T	0.26	.	19.9089	0.97019	0.0:0.0:1.0:0.0	.	877;926;926	F5H228;O75962-5;O75962	.;.;TRIO_HUMAN	R	926;926;877;613	ENSP00000339299:G926R;ENSP00000446348:G926R;ENSP00000445592:G877R	ENSP00000339299:G926R	G	+	1	0	TRIO	14419990	1.000000	0.71417	0.820000	0.32676	0.982000	0.71751	9.787000	0.99055	2.793000	0.96121	0.655000	0.94253	GGA		0.537	TRIO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253711.2	NM_007118		28	106	0	0	0	1	0	28	106					A	14366990	G	A	14366990	3	1	305	1	0	0	0	0	1	0	0	0	16549	1117	39	2	2838	2	TRIO	5	14366990	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	3284138	14366990	166548270	300	14817											
FBXL7	23194	broad.mit.edu	37	chr5	15928442	15928442	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgtgtctcatgctggaaaccGtaactgtcagtggctgcagg	8	11	13	9	1	2	0	2	0	1	0	3	1	2	1	1	3	4	4	1	3	2	1			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr5:15928442G>A	ENST00000504595.1	+	3	1052	c.571G>A	c.(571-573)Gta>Ata	p.V191I	FBXL7_ENST00000510662.1_Missense_Mutation_p.V144I|FBXL7_ENST00000329673.7_Missense_Mutation_p.V179I	NM_001278317.1|NM_012304.3	NP_001265246.1|NP_036436.1	Q9UJT9	FBXL7_HUMAN	F-box and leucine-rich repeat protein 7	191					cell proliferation (GO:0008283)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic nuclear division (GO:0007067)|protein ubiquitination (GO:0016567)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|ubiquitin-dependent protein catabolic process (GO:0006511)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|SCF ubiquitin ligase complex (GO:0019005)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(13)|lung(33)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	60						GCTGGAAACCGTAACTGTCAG	0.627																																						ENST00000504595.1																			0				cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(13)|lung(33)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	60						c.(571-573)Gta>Ata		F-box and leucine-rich repeat protein 7							32	38	36					5																	15928442		2110	4235	6345	SO:0001583	missense	23194				ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity	g.chr5:15928442G>A	AB020647	CCDS54833.1, CCDS64129.1	5p15.1	2011-06-09				ENSG00000183580		"F-boxes / Leucine-rich repeats"	13604	protein-coding gene	gene with protein product		605656				10048485, 10531035	Standard	NM_012304		Approved	KIAA0840, FBL7, FBL6	uc003jfn.1	Q9UJT9		ENST00000504595.1:c.571G>A	5.37:g.15928442G>A	ENSP00000423630:p.Val191Ile					FBXL7_ENST00000329673.7_Missense_Mutation_p.V179I|FBXL7_ENST00000510662.1_Missense_Mutation_p.V144I	p.V191I	NM_001278317.1|NM_012304.3	NP_001265246.1|NP_036436.1	Q9UJT9	FBXL7_HUMAN			3	1052	+			191					B9EGF1|D6RDY7|O94926	Missense_Mutation	SNP	ENST00000504595.1	37	c.571G>A	CCDS54833.1	.	.	.	.	.	.	.	.	.	.	G	15.73	2.919821	0.52653	.	.	ENSG00000183580	ENST00000504595;ENST00000510662;ENST00000329673	T;T;T	0.51574	0.7;0.7;0.7	5.36	5.36	0.76844	.	0.000000	0.85682	D	0.000000	T	0.37433	0.1003	L	0.43152	1.355	0.80722	D	1	P	0.40834	0.73	B	0.28305	0.088	T	0.23904	-1.0175	10	0.24483	T	0.36	.	19.0832	0.93190	0.0:0.0:1.0:0.0	.	191	Q9UJT9	FBXL7_HUMAN	I	191;144;179	ENSP00000423630:V191I;ENSP00000425184:V144I;ENSP00000329632:V179I	ENSP00000329632:V179I	V	+	1	0	FBXL7	15981442	1.000000	0.71417	0.267000	0.24556	0.919000	0.55068	5.613000	0.67688	2.520000	0.84964	0.561000	0.74099	GTA		0.627	FBXL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366117.1	NM_012304		11	34	0	0	0	1	0	11	34					A	15928442	G	A	15928442	3	1	305	1	0	0	0	0	1	0	0	0	5724	1145	40	1	581	1	FBXL7	5	15928442	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	1561452	15928442	164986818	301	14818											
C5orf22	55322	broad.mit.edu	37	chr5	31538687	31538687	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tcaggaatgccagactgctgCcagcactggggaaattctgg	10	8	13	10	0	2	1	1	0	1	1	2	3	2	3	2	4	4	2	2	4	2	1			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr5:31538687C>T	ENST00000325366.9	+	4	825	c.698C>T	c.(697-699)gCc>gTc	p.A233V	C5orf22_ENST00000355907.3_5'UTR	NM_018356.2	NP_060826.2	Q49AR2	CE022_HUMAN	chromosome 5 open reading frame 22	233										kidney(3)|large_intestine(2)|lung(10)|ovary(2)|skin(1)	18						CAGACTGCTGCCAGCACTGGG	0.408																																						ENST00000325366.9																			0				kidney(3)|large_intestine(2)|lung(10)|ovary(2)|skin(1)	18						c.(697-699)gCc>gTc		chromosome 5 open reading frame 22							51	50	51					5																	31538687		2203	4300	6503	SO:0001583	missense	55322							g.chr5:31538687C>T	AK002055	CCDS3895.1	5p13.3	2012-02-22			ENSG00000082213	ENSG00000082213			25639	protein-coding gene	gene with protein product							Standard	NM_018356		Approved	FLJ11193	uc003jhj.4	Q49AR2	OTTHUMG00000131067	ENST00000325366.9:c.698C>T	5.37:g.31538687C>T	ENSP00000326879:p.Ala233Val					C5orf22_ENST00000355907.3_5'UTR	p.A233V	NM_018356.2	NP_060826.2	Q49AR2	CE022_HUMAN			4	825	+			233					Q8ND28|Q8WU61|Q9NUR1	Missense_Mutation	SNP	ENST00000325366.9	37	c.698C>T	CCDS3895.1	.	.	.	.	.	.	.	.	.	.	C	2.872	-0.233766	0.05983	.	.	ENSG00000082213	ENST00000325366	T	0.30448	1.53	5.99	-1.58	0.08479	.	0.714971	0.14431	N	0.319995	T	0.11836	0.0288	N	0.08118	0	0.19575	N	0.999968	B	0.02656	0.0	B	0.04013	0.001	T	0.32134	-0.9918	10	0.16420	T	0.52	-0.3722	6.8331	0.23921	0.1867:0.1849:0.0:0.6284	.	233	Q49AR2	CE022_HUMAN	V	233	ENSP00000326879:A233V	ENSP00000326879:A233V	A	+	2	0	C5orf22	31574444	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.358000	0.07641	-0.280000	0.09154	-0.793000	0.03317	GCC		0.408	C5orf22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253726.2	NM_018356		9	27	0	0	0	1	0	9	27					T	31538687	C	T	31538687	3	4	305	1	0	0	0	0	1	0	0	0	2285	739	26	3	712	3	C5orf22	5	31538687	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	15610245	31538687	149376573	302	14819											
PDZD2	23037	broad.mit.edu	37	chr5	32059348	32059348	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aatggtgcctctcacagagcCaagagttggattaggcattg	11	10	12	8	0	1	2	1	0	1	2	2	3	1	3	2	3	2	2	2	3	3	3			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr5:32059348C>T	ENST00000438447.1	+	13	2592	c.2204C>T	c.(2203-2205)cCa>cTa	p.P735L	PDZD2_ENST00000282493.3_Missense_Mutation_p.P735L			O15018	PDZD2_HUMAN	PDZ domain containing 2	735	PDZ 4. {ECO:0000255|PROSITE- ProRule:PRU00143}.				cell adhesion (GO:0007155)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|nucleus (GO:0005634)				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						CTCACAGAGCCAAGAGTTGGA	0.408																																						ENST00000438447.1																			0				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						c.(2203-2205)cCa>cTa		PDZ domain containing 2							65	57	60					5																	32059348		2203	4300	6503	SO:0001583	missense	23037				cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus		g.chr5:32059348C>T	AB002298	CCDS34137.1	5p14.1	2008-02-05	2006-01-24	2006-01-24		ENSG00000133401			18486	protein-coding gene	gene with protein product		610697	"PDZ domain containing 3"	PDZK3		9205841	Standard	XM_005248271		Approved	KIAA0300	uc003jhm.3	O15018		ENST00000438447.1:c.2204C>T	5.37:g.32059348C>T	ENSP00000402033:p.Pro735Leu					PDZD2_ENST00000282493.3_Missense_Mutation_p.P735L	p.P735L			O15018	PDZD2_HUMAN			13	2592	+			735			PDZ 4.		Q9BXD4	Missense_Mutation	SNP	ENST00000438447.1	37	c.2204C>T	CCDS34137.1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.434453	0.83776	.	.	ENSG00000133401	ENST00000438447;ENST00000382161;ENST00000282493	T;T	0.17528	2.27;2.27	5.69	5.69	0.88448	PDZ/DHR/GLGF (3);	0.000000	0.44688	D	0.000421	T	0.43986	0.1272	M	0.76574	2.34	0.80722	D	1	P;D	0.89917	0.884;1.0	P;D	0.75020	0.493;0.985	T	0.33059	-0.9883	10	0.87932	D	0	.	17.3087	0.87202	0.0:1.0:0.0:0.0	.	561;735	B4E3P2;O15018	.;PDZD2_HUMAN	L	735;554;735	ENSP00000402033:P735L;ENSP00000282493:P735L	ENSP00000282493:P735L	P	+	2	0	PDZD2	32095105	0.997000	0.39634	0.992000	0.48379	0.815000	0.46073	3.583000	0.53928	2.679000	0.91253	0.591000	0.81541	CCA		0.408	PDZD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366608.1			5	20	0	0	0	1	0	5	20					T	32059348	C	T	32059348	3	4	305	1	0	0	0	0	1	0	0	0	11701	594	21	3	2250	3	PDZD2	5	32059348	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	520661	32059348	148855912	303	14820											
MTMR12	54545	broad.mit.edu	37	chr5	32263257	32263257	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccttcgttgacactcactgcTttgtacttcatgttgccttt	5	18	6	12	1	2	1	2	1	0	0	3	1	2	1	2	0	3	4	2	0	1	7			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr5:32263257T>G	ENST00000382142.3	-	7	845	c.675A>C	c.(673-675)aaA>aaC	p.K225N	MTMR12_ENST00000280285.5_Missense_Mutation_p.K225N|MTMR12_ENST00000264934.5_Missense_Mutation_p.K225N	NM_001040446.1	NP_001035536.1	Q9C0I1	MTMRC_HUMAN	myotubularin related protein 12	225	Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}.					cytoplasm (GO:0005737)	phosphatase activity (GO:0016791)			breast(3)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						CACTCACTGCTTTGTACTTCA	0.433																																						ENST00000382142.3																			0				breast(3)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						c.(673-675)aaA>aaC		myotubularin related protein 12							379	306	331					5																	32263257		2203	4300	6503	SO:0001583	missense	54545					cytoplasm	phosphatase activity	g.chr5:32263257T>G	AB051469	CCDS34138.1, CCDS75230.1	5p15.33	2011-06-09	2005-04-07	2005-04-07	ENSG00000150712	ENSG00000150712		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"	18191	protein-coding gene	gene with protein product		606501	"phosphatidylinositol-3-phosphate associated protein"	PIP3AP		11504939, 12495846	Standard	XM_005248313		Approved	3-PAP, FLJ20476, KIAA1682, 3PAP	uc003jhq.3	Q9C0I1	OTTHUMG00000161978	ENST00000382142.3:c.675A>C	5.37:g.32263257T>G	ENSP00000371577:p.Lys225Asn					MTMR12_ENST00000264934.5_Missense_Mutation_p.K225N|MTMR12_ENST00000280285.5_Missense_Mutation_p.K225N	p.K225N	NM_001040446.1	NP_001035536.1	Q9C0I1	MTMRC_HUMAN			7	845	-			225			Myotubularin phosphatase.		Q69YJ4|Q6PFW3|Q96QU2|Q9NX27	Missense_Mutation	SNP	ENST00000382142.3	37	c.675A>C	CCDS34138.1	.	.	.	.	.	.	.	.	.	.	T	18.15	3.559231	0.65538	.	.	ENSG00000150712	ENST00000280285;ENST00000382142;ENST00000264934	D;D;D	0.93604	-3.25;-3.25;-3.25	5.55	-2.71	0.05986	Myotubularin phosphatase domain (1);	0.114376	0.64402	D	0.000020	D	0.93684	0.7982	M	0.62723	1.935	0.32537	N	0.534149	D;P;P	0.67145	0.996;0.928;0.883	P;P;B	0.59948	0.866;0.526;0.327	D	0.92725	0.6195	10	0.72032	D	0.01	.	11.1733	0.48584	0.0:0.3794:0.0:0.6206	.	225;225;225	Q9C0I1-3;Q9C0I1-2;Q9C0I1	.;.;MTMRC_HUMAN	N	225	ENSP00000280285:K225N;ENSP00000371577:K225N;ENSP00000264934:K225N	ENSP00000264934:K225N	K	-	3	2	MTMR12	32299014	0.999000	0.42202	0.820000	0.32676	0.997000	0.91878	0.255000	0.18333	-0.744000	0.04778	0.528000	0.53228	AAA		0.433	MTMR12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366579.1	NM_019061		32	79	0	0	0	1	0	32	79					G	32263257	T	G	32263257	3	3	305	1	0	0	0	0	1	0	0	0	9941	1606	56	5	1608	5	MTMR12	5	32263257	Missense_Mutation	SNP	T	TCGA-KK-A59V-01A-11D-A29Q-08	203909	32263257	148652003	304	14821											
TARS	6897	broad.mit.edu	37	chr5	33459802	33459802	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctgtttattttctatcagagCgaatataggaaaagaggatt	14	14	9	4	1	2	2	1	0	1	2	2	5	2	4	0	2	1	1	0	2	7	8			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr5:33459802C>T	ENST00000265112.3	+	11	1397	c.1086C>T	c.(1084-1086)agC>agT	p.S362S	TARS_ENST00000414361.2_Silent_p.S241S|TARS_ENST00000541634.1_Silent_p.S258S|TARS_ENST00000455217.2_Silent_p.S395S|TARS_ENST00000502553.1_Silent_p.S362S	NM_152295.4	NP_689508.3	P26639	SYTC_HUMAN	threonyl-tRNA synthetase	362					gene expression (GO:0010467)|threonyl-tRNA aminoacylation (GO:0006435)|translation (GO:0006412)|tRNA aminoacylation for protein translation (GO:0006418)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|protein homodimerization activity (GO:0042803)|threonine-tRNA ligase activity (GO:0004829)			NS(1)|biliary_tract(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)	29					L-Threonine(DB00156)	TCTATCAGAGCGAATATAGGA	0.418																																						ENST00000265112.3																			0				NS(1)|biliary_tract(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)	29						c.(1084-1086)agC>agT		threonyl-tRNA synthetase	L-Threonine(DB00156)						60	64	63					5																	33459802		2203	4300	6503	SO:0001819	synonymous_variant	6897				threonyl-tRNA aminoacylation	cytosol	ATP binding|protein homodimerization activity|threonine-tRNA ligase activity	g.chr5:33459802C>T	AK095852	CCDS3899.1, CCDS58943.1	5p13.2	2012-10-02			ENSG00000113407	ENSG00000113407	6.1.1.3	"Aminoacyl tRNA synthetases / Class II"	11572	protein-coding gene	gene with protein product	"threonine tRNA ligase 1, cytoplasmic"	187790					Standard	NM_152295		Approved		uc011coc.3	P26639	OTTHUMG00000090683	ENST00000265112.3:c.1086C>T	5.37:g.33459802C>T						TARS_ENST00000455217.2_Silent_p.S395S|TARS_ENST00000541634.1_Silent_p.S258S|TARS_ENST00000502553.1_Silent_p.S362S|TARS_ENST00000414361.2_Silent_p.S241S	p.S362S	NM_152295.4	NP_689508.3	P26639	SYTC_HUMAN			11	1397	+			362					A8K8I1|B4DEG8|Q96FP5|Q9BWA6	Silent	SNP	ENST00000265112.3	37	c.1086C>T	CCDS3899.1																																																																																				0.418	TARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207367.1	NM_152295		22	46	0	0	0	1	0	22	46					T	33459802	C	T	33459802	2	4	305	1	0	0	0	0	0	0	0	1	15556	767	27	1		1	TARS	5	33459802	Silent	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	1196545	33459802	147455458	305	14822											
NIPBL	25836	broad.mit.edu	37	chr5	37064774	37064774	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aagagtagtgcagaaaaccaGcagtggcttcagtgttcagt	13	9	12	7	0	2	2	2	0	0	2	2	2	2	2	1	1	3	5	1	1	4	3			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr5:37064774G>A	ENST00000282516.8	+	47	8694	c.8195G>A	c.(8194-8196)aGc>aAc	p.S2732N		NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	2732					brain development (GO:0007420)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to X-ray (GO:0071481)|cognition (GO:0050890)|developmental growth (GO:0048589)|ear morphogenesis (GO:0042471)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic forelimb morphogenesis (GO:0035115)|embryonic viscerocranium morphogenesis (GO:0048703)|external genitalia morphogenesis (GO:0035261)|eye morphogenesis (GO:0048592)|face morphogenesis (GO:0060325)|fat cell differentiation (GO:0045444)|forelimb morphogenesis (GO:0035136)|gall bladder development (GO:0061010)|heart morphogenesis (GO:0003007)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|metanephros development (GO:0001656)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid cohesion (GO:0007064)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract morphogenesis (GO:0003151)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of ossification (GO:0045778)|regulation of developmental growth (GO:0048638)|regulation of embryonic development (GO:0045995)|regulation of hair cycle (GO:0042634)|sensory perception of sound (GO:0007605)|stem cell maintenance (GO:0019827)|uterus morphogenesis (GO:0061038)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMC loading complex (GO:0032116)	chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|histone deacetylase binding (GO:0042826)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			CAGAAAACCAGCAGTGGCTTC	0.507																																						ENST00000282516.8																			0				autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128						c.(8194-8196)aGc>aAc		Nipped-B homolog (Drosophila)							155	140	145					5																	37064774		2203	4300	6503	SO:0001583	missense	25836				brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding	g.chr5:37064774G>A	AB019494	CCDS3920.1, CCDS47198.1	5p13.2	2009-08-28			ENSG00000164190	ENSG00000164190			28862	protein-coding gene	gene with protein product	"sister chromatid cohesion 2 homolog (yeast)"	608667				15146186, 15146185	Standard	NM_133433		Approved	IDN3, DKFZp434L1319, FLJ11203, FLJ12597, FLJ13354, FLJ13648, Scc2	uc003jkl.4	Q6KC79	OTTHUMG00000090795	ENST00000282516.8:c.8195G>A	5.37:g.37064774G>A	ENSP00000282516:p.Ser2732Asn						p.S2732N	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)		47	8694	+	all_lung(31;0.000447)|Hepatocellular(1;0.108)		2732					Q6KCD6|Q6N080|Q6ZT92|Q7Z2E6|Q8N4M5|Q9Y6Y3|Q9Y6Y4	Missense_Mutation	SNP	ENST00000282516.8	37	c.8195G>A	CCDS3920.1	.	.	.	.	.	.	.	.	.	.	G	11.98	1.801140	0.31869	.	.	ENSG00000164190	ENST00000282516	D	0.93712	-3.27	5.84	5.84	0.93424	.	0.212425	0.42294	D	0.000726	D	0.89911	0.6852	L	0.29908	0.895	0.80722	D	1	P	0.42827	0.791	B	0.37989	0.262	D	0.90774	0.4674	10	0.72032	D	0.01	-7.4667	20.139	0.98050	0.0:0.0:1.0:0.0	.	2732	Q6KC79	NIPBL_HUMAN	N	2732	ENSP00000282516:S2732N	ENSP00000282516:S2732N	S	+	2	0	NIPBL	37100531	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.763000	0.62257	2.764000	0.94973	0.655000	0.94253	AGC		0.507	NIPBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207582.1	NM_015384		59	123	0	0	0	1	0	59	123					A	37064774	G	A	37064774	3	1	305	1	0	0	0	0	1	0	0	0	10428	971	34	3	8422	3	NIPBL	5	37064774	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	3604972	37064774	143850486	306	14823											
PLCXD3	345557	broad.mit.edu	37	chr5	41313799	41313799	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcaccaagttctacaaaatCggcagtgacaatattgatgc	14	10	8	9	1	2	2	1	2	1	0	3	2	2	2	1	1	2	2	1	1	6	4			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr5:41313799C>A	ENST00000377801.3	-	3	960	c.886G>T	c.(886-888)Gat>Tat	p.D296Y	PLCXD3_ENST00000328457.3_Missense_Mutation_p.D296Y			Q63HM9	PLCX3_HUMAN	phosphatidylinositol-specific phospholipase C, X domain containing 3	296					lipid catabolic process (GO:0016042)		phosphoric diester hydrolase activity (GO:0008081)|signal transducer activity (GO:0004871)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						TCTACAAAATCGGCAGTGACA	0.448																																						ENST00000377801.3																			0				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						c.(886-888)Gat>Tat		phosphatidylinositol-specific phospholipase C, X domain containing 3							120	106	111					5																	41313799		2203	4300	6503	SO:0001583	missense	345557				intracellular signal transduction|lipid catabolic process		phospholipase C activity|signal transducer activity	g.chr5:41313799C>A		CCDS34150.1	5p13.1	2004-09-09			ENSG00000182836	ENSG00000182836			31822	protein-coding gene	gene with protein product							Standard	NM_001005473		Approved		uc003jmm.1	Q63HM9	OTTHUMG00000162076	ENST00000377801.3:c.886G>T	5.37:g.41313799C>A	ENSP00000367032:p.Asp296Tyr					PLCXD3_ENST00000328457.3_Missense_Mutation_p.D296Y	p.D296Y			Q63HM9	PLCX3_HUMAN			3	960	-			296					A6NL04	Missense_Mutation	SNP	ENST00000377801.3	37	c.886G>T	CCDS34150.1	.	.	.	.	.	.	.	.	.	.	C	24.9	4.579647	0.86645	.	.	ENSG00000182836	ENST00000377801;ENST00000328457	.	.	.	5.65	5.65	0.86999	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);	0.000000	0.85682	D	0.000000	T	0.79782	0.4505	M	0.73319	2.225	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	T	0.80957	-0.1150	9	0.87932	D	0	-16.4033	19.7362	0.96205	0.0:1.0:0.0:0.0	.	296	Q63HM9	PLCX3_HUMAN	Y	296	.	ENSP00000333751:D296Y	D	-	1	0	PLCXD3	41349556	1.000000	0.71417	0.997000	0.53966	0.998000	0.95712	7.427000	0.80284	2.678000	0.91216	0.655000	0.94253	GAT		0.448	PLCXD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367109.1	XM_293875		16	41	1	0	5.01169e-05	1	5.13023e-05	16	41					A	41313799	C	A	41313799	3	1	305	1	0	0	0	0	1	0	0	0	12043	884	31	5	83	5	PLCXD3	5	41313799	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	4249025	41313799	139601461	307	14824											
CWC27	10283	broad.mit.edu	37	chr5	64100133	64100134	+	Frame_Shift_Ins	INS	-	-	A																															tgatgagagaaagaattgccINSaaaaaattaaaaaaggacac																										TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr5:64100133_64100134insA	ENST00000381070.3	+	10	1075_1076	c.858_859insA	c.(859-861)aaafs	p.K287fs	CWC27_ENST00000508024.1_Frame_Shift_Ins_p.K287fs	NM_005869.2	NP_005860.2	Q6UX04	CWC27_HUMAN	CWC27 spliceosome-associated protein homolog (S. cerevisiae)	287					mRNA splicing, via spliceosome (GO:0000398)|protein folding (GO:0006457)	catalytic step 2 spliceosome (GO:0071013)	peptidyl-prolyl cis-trans isomerase activity (GO:0003755)	p.K288fs*2(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(5)|prostate(1)	21						AAAGAATTGCCAAAAAATTAAA	0.391																																						ENST00000508024.1																			1	Deletion - Frameshift(1)	p.K288fs*2(1)	large_intestine(1)	breast(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(5)|prostate(1)	21						c.(856-861)gcaaaafs		CWC27 spliceosome-associated protein homolog (S. cerevisiae)																																				SO:0001589	frameshift_variant	10283				protein folding	catalytic step 2 spliceosome	peptidyl-prolyl cis-trans isomerase activity	g.chr5:64100133_64100134insA	AF039692	CCDS3982.2, CCDS75252.1	5q12.3	2010-01-26	2010-01-26	2010-01-26	ENSG00000153015	ENSG00000153015			10664	protein-coding gene	gene with protein product			"serologically defined colon cancer antigen 10"	SDCCAG10		9610721, 19941820	Standard	XM_005248399		Approved	NY-CO-10	uc003jtn.1	Q6UX04	OTTHUMG00000074069	ENST00000381070.3:c.864dupA	5.37:g.64100139_64100139dupA	ENSP00000370460:p.Lys287fs					CWC27_ENST00000381070.3_Frame_Shift_Ins_p.AK286fs	p.AK286fs			Q6UX04	CWC27_HUMAN			10	1059_1060	+			286					O60529|O60530|Q96EM3	Frame_Shift_Ins	INS	ENST00000381070.3	37	c.858_859insA	CCDS3982.2																																																																																				0.391	CWC27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157247.4	NM_005869		17	49						17	49	---	---	---	---	A	64100134	-	A	64100133	7	5	305	1	0	1	1	0	0	0	0	0	4070	581	21	0	896	0	CWC27	5	64100133	Frame_Shift_Ins	INS	-	TCGA-KK-A59V-01A-11D-A29Q-08	22786334	64100133	116815127	308	14825											
ZNF366	167465	broad.mit.edu	37	chr5	71756273	71756273	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggcttcgtgggccttgagctCgctggggtaggcaaagccgc	5	8	17	11	3	0	1	0	1	0	0	2	1	0	1	2	5	2	5	2	5	2	3			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr5:71756273C>T	ENST00000318442.5	-	2	1541	c.1051G>A	c.(1051-1053)Gag>Aag	p.E351K		NM_152625.1	NP_689838.1	Q8N895	ZN366_HUMAN	zinc finger protein 366	351					negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|estrogen receptor binding (GO:0030331)|metal ion binding (GO:0046872)|transcription corepressor activity (GO:0003714)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	35		Lung NSC(167;0.0247)|Ovarian(174;0.0908)|Prostate(461;0.155)		OV - Ovarian serous cystadenocarcinoma(47;2.51e-53)		GCCTTGAGCTCGCTGGGGTAG	0.647																																						ENST00000318442.5																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	35						c.(1051-1053)Gag>Aag		zinc finger protein 366							54	50	51					5																	71756273		2203	4300	6503	SO:0001583	missense	0				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr5:71756273C>T	AK097115	CCDS4015.1	5q13.1	2013-01-08			ENSG00000178175	ENSG00000178175		"Zinc fingers, C2H2-type"	18316	protein-coding gene	gene with protein product		610159					Standard	NM_152625		Approved	FLJ39796	uc003kce.1	Q8N895	OTTHUMG00000100965	ENST00000318442.5:c.1051G>A	5.37:g.71756273C>T	ENSP00000313158:p.Glu351Lys						p.E351K	NM_152625.1	NP_689838.1	Q8N895	ZN366_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;2.51e-53)	2	1541	-		Lung NSC(167;0.0247)|Ovarian(174;0.0908)|Prostate(461;0.155)	351					Q5HYI9|Q7RTV4	Missense_Mutation	SNP	ENST00000318442.5	37	c.1051G>A	CCDS4015.1	.	.	.	.	.	.	.	.	.	.	C	28.7	4.939170	0.92526	.	.	ENSG00000178175	ENST00000318442	T	0.07444	3.19	5.8	4.94	0.65067	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.174659	0.40222	N	0.001149	T	0.04770	0.0129	N	0.08118	0	0.58432	D	0.999999	P	0.51351	0.944	B	0.40199	0.322	T	0.54781	-0.8242	10	0.18710	T	0.47	-47.0493	14.8274	0.70122	0.0:0.9311:0.0:0.0689	.	351	Q8N895	ZN366_HUMAN	K	351	ENSP00000313158:E351K	ENSP00000313158:E351K	E	-	1	0	ZNF366	71792029	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.786000	0.85741	1.461000	0.47929	0.561000	0.74099	GAG		0.647	ZNF366-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218574.3			11	43	0	0	0	1	0	11	43					T	71756273	C	T	71756273	3	4	305	1	0	0	0	0	1	0	0	0	17867	893	31	2	1199	2	ZNF366	5	71756273	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	7656140	71756273	109158987	309	14826											
TMEM171	134285	broad.mit.edu	37	chr5	72419582	72419582	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caagcggcatgctcatcagcGtcctgggcatttgggtccct	6	10	12	13	2	2	0	2	0	0	0	4	0	4	0	2	3	3	3	2	3	1	1			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr5:72419582G>A	ENST00000454765.2	+	2	855	c.382G>A	c.(382-384)Gtc>Atc	p.V128I	TMEM171_ENST00000287773.5_Missense_Mutation_p.V128I			Q8WVE6	TM171_HUMAN	transmembrane protein 171	128						integral component of membrane (GO:0016021)				endometrium(5)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)|stomach(1)	15		Lung NSC(167;0.0378)|Ovarian(174;0.0908)|Prostate(461;0.165)		OV - Ovarian serous cystadenocarcinoma(47;1.87e-54)|Lung(70;0.115)		GCTCATCAGCGTCCTGGGCAT	0.587																																					NSCLC(112;638 2280 27369 30736)	ENST00000454765.2																			0				endometrium(5)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)|stomach(1)	15						c.(382-384)Gtc>Atc		transmembrane protein 171							125	128	127					5																	72419582		2203	4300	6503	SO:0001583	missense	134285					integral to membrane		g.chr5:72419582G>A	BC018083	CCDS4017.1, CCDS54869.1	5q13.2	2008-02-05			ENSG00000157111	ENSG00000157111			27031	protein-coding gene	gene with protein product						12477932	Standard	NM_173490		Approved	PRP2	uc003kcm.2	Q8WVE6	OTTHUMG00000131269	ENST00000454765.2:c.382G>A	5.37:g.72419582G>A	ENSP00000415030:p.Val128Ile					TMEM171_ENST00000287773.5_Missense_Mutation_p.V128I	p.V128I			Q8WVE6	TM171_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;1.87e-54)|Lung(70;0.115)	2	855	+		Lung NSC(167;0.0378)|Ovarian(174;0.0908)|Prostate(461;0.165)	128					Q8N0S1|Q8TDT7	Missense_Mutation	SNP	ENST00000454765.2	37	c.382G>A	CCDS4017.1	.	.	.	.	.	.	.	.	.	.	G	6.690	0.495841	0.12762	.	.	ENSG00000157111	ENST00000454765;ENST00000287773	T;T	0.20598	2.06;2.06	5.34	-0.15	0.13416	.	0.544274	0.17336	N	0.177912	T	0.08980	0.0222	N	0.08118	0	0.26141	N	0.980273	B;B	0.11235	0.004;0.004	B;B	0.09377	0.004;0.004	T	0.37663	-0.9696	10	0.12766	T	0.61	-2.5931	11.1458	0.48430	0.381:0.0:0.619:0.0	.	128;128	Q8WVE6-2;Q8WVE6	.;TM171_HUMAN	I	128	ENSP00000415030:V128I;ENSP00000287773:V128I	ENSP00000287773:V128I	V	+	1	0	TMEM171	72455338	0.001000	0.12720	0.681000	0.30009	0.911000	0.54048	-0.538000	0.06120	-0.008000	0.14320	0.455000	0.32223	GTC		0.587	TMEM171-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254037.2	NM_173490		6	162	0	0	0	1	0	6	162					A	72419582	G	A	72419582	3	1	305	1	0	0	0	0	1	0	0	0	16085	1145	40	1	384	1	TMEM171	5	72419582	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	663309	72419582	108495678	310	14827											
CKMT2	1160	broad.mit.edu	37	chr5	80548556	80548556	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aagcacaacaactgcatggcCgagtgcctcacccccgccat	11	5	8	17	2	1	0	1	0	0	0	1	1	1	0	5	1	5	2	5	1	3	0	rs200789133		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr5:80548556C>T	ENST00000424301.2	+	4	433	c.195C>T	c.(193-195)gcC>gcT	p.A65A	CKMT2_ENST00000254035.4_Silent_p.A65A|CKMT2-AS1_ENST00000500148.2_RNA|CKMT2_ENST00000437669.1_Silent_p.A65A|CKMT2-AS1_ENST00000505295.1_RNA|CKMT2-AS1_ENST00000503483.2_RNA|CKMT2-AS1_ENST00000512287.1_RNA|CKMT2-AS1_ENST00000501927.2_RNA|CKMT2-AS1_ENST00000502041.2_RNA|CKMT2-AS1_ENST00000511495.1_RNA	NM_001825.2	NP_001816.2	P17540	KCRS_HUMAN	creatine kinase, mitochondrial 2 (sarcomeric)	65	Phosphagen kinase N-terminal. {ECO:0000255|PROSITE-ProRule:PRU00842}.				cellular nitrogen compound metabolic process (GO:0034641)|creatine metabolic process (GO:0006600)|muscle contraction (GO:0006936)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|creatine kinase activity (GO:0004111)			breast(2)|cervix(1)|endometrium(2)|large_intestine(7)|lung(4)|urinary_tract(1)	17		Lung NSC(167;0.00475)|all_lung(232;0.00502)|Ovarian(174;0.0336)		OV - Ovarian serous cystadenocarcinoma(54;2.29e-44)|Epithelial(54;1.05e-38)|all cancers(79;4.15e-34)	Creatine(DB00148)	ACTGCATGGCCGAGTGCCTCA	0.622													C|||	1	0.000199681	0	0.0014	5008	,	,		19266	0		0	False		,,,				2504	0					ENST00000424301.2																			0				breast(2)|cervix(1)|endometrium(2)|large_intestine(7)|lung(4)|urinary_tract(1)	17						c.(193-195)gcC>gcT		creatine kinase, mitochondrial 2 (sarcomeric)	Creatine(DB00148)						100	86	91					5																	80548556		2203	4300	6503	SO:0001819	synonymous_variant	1160				creatine metabolic process|muscle contraction	mitochondrial inner membrane	ATP binding|creatine kinase activity	g.chr5:80548556C>T		CCDS4053.1	5q14.1	2013-09-20			ENSG00000131730	ENSG00000131730	2.7.3.2		1996	protein-coding gene	gene with protein product		123295				2324105	Standard	NM_001825		Approved	SMTCK	uc003khd.4	P17540	OTTHUMG00000119013	ENST00000424301.2:c.195C>T	5.37:g.80548556C>T						CTC-281B15.1_ENST00000500148.2_RNA|CKMT2_ENST00000254035.4_Silent_p.A65A|CKMT2_ENST00000437669.1_Silent_p.A65A|CTC-281B15.1_ENST00000511495.1_RNA|CTC-281B15.1_ENST00000502041.2_RNA|CTC-281B15.1_ENST00000503483.2_RNA|CTC-281B15.1_ENST00000501927.2_RNA|CTC-281B15.1_ENST00000505295.1_RNA|CTC-281B15.1_ENST00000512287.1_RNA	p.A65A	NM_001825.2	NP_001816.2	P17540	KCRS_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;2.29e-44)|Epithelial(54;1.05e-38)|all cancers(79;4.15e-34)	4	433	+		Lung NSC(167;0.00475)|all_lung(232;0.00502)|Ovarian(174;0.0336)	65			Phosphagen kinase N-terminal.		Q6ICS8|Q8N1E1	Silent	SNP	ENST00000424301.2	37	c.195C>T	CCDS4053.1																																																																																				0.622	CKMT2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369600.1	NM_001825		21	62	0	0	0	1	0	21	62					T	80548556	C	T	80548556	2	4	305	1	0	0	0	0	0	0	0	1	3451	639	23	2		2	CKMT2	5	80548556	Silent	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	8128974	80548556	100366704	311	14828											
GPR98	84059	broad.mit.edu	37	chr5	90149114	90149114	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gttgtagaagcaaaaccatcCttgatagttgcccatatttg	12	13	8	8	0	0	2	0	1	0	1	1	2	1	2	3	0	3	4	3	0	6	7			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr5:90149114C>T	ENST00000405460.2	+	80	17314	c.17218C>T	c.(17218-17220)Ctt>Ttt	p.L5740F	GPR98_ENST00000425867.2_Missense_Mutation_p.L1401F	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	5740					detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		CAAAACCATCCTTGATAGTTG	0.353																																						ENST00000405460.2																			0				NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269						c.(17218-17220)Ctt>Ttt		G protein-coupled receptor 98							109	108	108					5																	90149114		1855	4088	5943	SO:0001583	missense	84059				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr5:90149114C>T	AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"-", "GPCR / Class B : Orphans"	17416	protein-coding gene	gene with protein product		602851	"monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.17218C>T	5.37:g.90149114C>T	ENSP00000384582:p.Leu5740Phe					GPR98_ENST00000425867.2_Missense_Mutation_p.L1401F	p.L5740F	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)	80	17314	+		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)	5740					O75171|Q8TF58|Q9H0X5|Q9UL61	Missense_Mutation	SNP	ENST00000405460.2	37	c.17218C>T	CCDS47246.1	.	.	.	.	.	.	.	.	.	.	C	19.01	3.744022	0.69418	.	.	ENSG00000164199	ENST00000405460;ENST00000296619;ENST00000425867	T;T	0.34072	1.39;1.38	5.4	3.6	0.41247	.	0.063003	0.64402	N	0.000009	T	0.46014	0.1371	M	0.72894	2.215	0.58432	D	0.999999	D;P;D	0.56521	0.959;0.618;0.976	P;B;P	0.53401	0.535;0.142;0.725	T	0.42982	-0.9419	9	.	.	.	.	8.5771	0.33605	0.0:0.7682:0.0:0.2318	.	1401;5740;1401	E7EML1;Q8WXG9;Q8WXG9-2	.;GPR98_HUMAN;.	F	5740;5740;1401	ENSP00000384582:L5740F;ENSP00000392618:L1401F	.	L	+	1	0	GPR98	90184870	1.000000	0.71417	1.000000	0.80357	0.909000	0.53808	1.718000	0.38001	1.247000	0.43917	0.655000	0.94253	CTT		0.353	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2	NM_032119		4	108	0	0	0	1	0	4	108					T	90149114	C	T	90149114	3	4	305	1	0	0	0	0	1	0	0	0	6721	681	24	3	17536	3	GPR98	5	90149114	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	9600558	90149114	90766146	312	14829											
GPR98	84059	broad.mit.edu	37	chr5	90368409	90368409	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgatgtcttcagaggaaggAcaaatgctgcaggtttgaaa	14	10	12	5	0	2	3	1	2	1	1	2	5	2	5	0	3	2	3	0	3	3	2			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr5:90368409A>G	ENST00000405460.2	+	86	18394	c.18298A>G	c.(18298-18300)Aca>Gca	p.T6100A	GPR98_ENST00000425867.2_Missense_Mutation_p.T1761A	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	6100					detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		CAGAGGAAGGACAAATGCTGC	0.428																																						ENST00000405460.2																			0				NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269						c.(18298-18300)Aca>Gca		G protein-coupled receptor 98							201	187	192					5																	90368409		1991	4182	6173	SO:0001583	missense	84059				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr5:90368409A>G	AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"-", "GPCR / Class B : Orphans"	17416	protein-coding gene	gene with protein product		602851	"monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.18298A>G	5.37:g.90368409A>G	ENSP00000384582:p.Thr6100Ala					GPR98_ENST00000425867.2_Missense_Mutation_p.T1761A	p.T6100A	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)	86	18394	+		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)	6100					O75171|Q8TF58|Q9H0X5|Q9UL61	Missense_Mutation	SNP	ENST00000405460.2	37	c.18298A>G	CCDS47246.1	.	.	.	.	.	.	.	.	.	.	A	17.19	3.325832	0.60743	.	.	ENSG00000164199	ENST00000405460;ENST00000296619;ENST00000425867	T;T	0.43294	0.95;0.95	6.06	6.06	0.98353	GPCR, family 2-like (1);	0.101452	0.64402	D	0.000002	T	0.57184	0.2036	M	0.64404	1.975	0.53688	D	0.999974	D;D;D	0.63046	0.992;0.978;0.99	P;P;P	0.61328	0.887;0.829;0.819	T	0.57057	-0.7876	9	.	.	.	.	12.4549	0.55697	0.8605:0.1395:0.0:0.0	.	1761;6100;1761	E7EML1;Q8WXG9;Q8WXG9-2	.;GPR98_HUMAN;.	A	6100;6100;1761	ENSP00000384582:T6100A;ENSP00000392618:T1761A	.	T	+	1	0	GPR98	90404165	1.000000	0.71417	0.996000	0.52242	0.456000	0.32438	3.126000	0.50477	2.324000	0.78689	0.533000	0.62120	ACA		0.428	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2	NM_032119		42	142	0	0	0	1	0	42	142					G	90368409	A	G	90368409	3	3	305	1	0	0	0	0	1	0	0	0	6721	275	10	4	18640	4	GPR98	5	90368409	Missense_Mutation	SNP	A	TCGA-KK-A59V-01A-11D-A29Q-08	219295	90368409	90546851	313	14830											
RHOBTB3	22836	broad.mit.edu	37	chr5	95091242	95091242	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcccacaagatcgttctctgCgctgtaagccatgttttcat	8	13	8	12	2	2	1	1	0	1	1	4	1	2	1	2	0	2	4	2	0	2	4	rs575094079		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr5:95091242C>T	ENST00000379982.3	+	6	1333	c.825C>T	c.(823-825)tgC>tgT	p.C275C	GLRX_ENST00000508780.1_Intron	NM_014899.3	NP_055714.3	O94955	RHBT3_HUMAN	Rho-related BTB domain containing 3	275	BTB 1. {ECO:0000255|PROSITE- ProRule:PRU00037}.				ATP catabolic process (GO:0006200)|retrograde transport, endosome to Golgi (GO:0042147)|small GTPase mediated signal transduction (GO:0007264)	Golgi apparatus (GO:0005794)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|GTP binding (GO:0005525)|Rab GTPase binding (GO:0017137)			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|skin(1)	16		all_cancers(142;2.58e-06)|all_epithelial(76;4.19e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0164)|Colorectal(57;0.0846)|Breast(839;0.198)		all cancers(79;8.79e-16)		TCGTTCTCTGCGCTGTAAGCC	0.428													C|||	1	0.000199681	8e-04	0	5008	,	,		16863	0		0	False		,,,				2504	0					ENST00000379982.3																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|skin(1)	16						c.(823-825)tgC>tgT		Rho-related BTB domain containing 3							155	141	146					5																	95091242		2203	4300	6503	SO:0001819	synonymous_variant	22836				retrograde transport, endosome to Golgi	Golgi apparatus	ATP binding|ATPase activity|Rab GTPase binding	g.chr5:95091242C>T	AB020685	CCDS4077.1	5q15	2014-05-09			ENSG00000164292	ENSG00000164292		"BTB/POZ domain containing"	18757	protein-coding gene	gene with protein product		607353				11222756, 17035353	Standard	NM_014899		Approved	KIAA0878	uc003klm.3	O94955	OTTHUMG00000121171	ENST00000379982.3:c.825C>T	5.37:g.95091242C>T						GLRX_ENST00000508780.1_Intron	p.C275C	NM_014899.3	NP_055714.3	O94955	RHBT3_HUMAN		all cancers(79;8.79e-16)	6	1333	+		all_cancers(142;2.58e-06)|all_epithelial(76;4.19e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0164)|Colorectal(57;0.0846)|Breast(839;0.198)	275			BTB 1.		A0PJA4|A8K1W9|Q8IW06	Silent	SNP	ENST00000379982.3	37	c.825C>T	CCDS4077.1																																																																																				0.428	RHOBTB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241658.1	NM_014899		8	120	0	0	0	1	0	8	120					T	95091242	C	T	95091242	2	4	305	1	0	0	0	0	0	0	0	1	13335	776	27	1		1	RHOBTB3	5	95091242	Silent	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	4722833	95091242	85824018	314	14831											
DCP2	167227	broad.mit.edu	37	chr5	112327915	112327915	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgggagtaccaacatatggTgcaattattcttgatgagac	13	12	10	6	0	1	2	0	2	1	1	1	4	1	3	1	2	3	2	1	2	5	5			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr5:112327915T>C	ENST00000389063.2	+	3	501	c.303T>C	c.(301-303)ggT>ggC	p.G101G	DCP2_ENST00000515408.1_Silent_p.G101G|DCP2_ENST00000543319.1_Intron	NM_152624.5	NP_689837	Q8IU60	DCP2_HUMAN	decapping mRNA 2	101	Nudix hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00794}.				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|histone mRNA catabolic process (GO:0071044)|mRNA catabolic process (GO:0006402)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|nucleus (GO:0005634)|RISC complex (GO:0016442)	exoribonuclease activity, producing 5'-phosphomonoesters (GO:0016896)|m7G(5')pppN diphosphatase activity (GO:0050072)|manganese ion binding (GO:0030145)|RNA binding (GO:0003723)			endometrium(3)|large_intestine(6)|lung(1)	10		all_cancers(142;4.41e-05)|all_epithelial(76;3.65e-07)|Colorectal(10;0.00115)|Prostate(80;0.00133)|Ovarian(225;0.0443)		OV - Ovarian serous cystadenocarcinoma(64;6.98e-08)|Epithelial(69;7.87e-08)|all cancers(49;1.06e-05)|COAD - Colon adenocarcinoma(37;0.0123)|Colorectal(14;0.0171)		CAACATATGGTGCAATTATTC	0.328																																						ENST00000389063.2																			0				endometrium(3)|large_intestine(6)|lung(1)	10						c.(301-303)ggT>ggC		decapping mRNA 2							148	146	147					5																	112327915		2202	4300	6502	SO:0001819	synonymous_variant	167227				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|histone mRNA catabolic process|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytoplasmic mRNA processing body|cytosol|nucleus|RNA-induced silencing complex	exoribonuclease activity, producing 5'-phosphomonoesters|manganese ion binding|protein binding|RNA binding	g.chr5:112327915T>C	AY135173	CCDS34210.1, CCDS56377.1	5q22	2013-05-02	2013-05-02		ENSG00000172795	ENSG00000172795	3.6.1.62	"Nudix motif containing"	24452	protein-coding gene	gene with protein product	"nudix (nucleoside diphosphate linked moiety X)-type motif 20", "M(7)GpppN-mRNA hydrolase"	609844	"DCP2 decapping enzyme homolog (S. cerevisiae)"			12218187, 12417715	Standard	NM_152624		Approved	NUDT20	uc003kqh.3	Q8IU60	OTTHUMG00000162853	ENST00000389063.2:c.303T>C	5.37:g.112327915T>C						DCP2_ENST00000543319.1_Intron|DCP2_ENST00000515408.1_Silent_p.G101G	p.G101G	NM_152624.5	NP_689837.2	Q8IU60	DCP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;6.98e-08)|Epithelial(69;7.87e-08)|all cancers(49;1.06e-05)|COAD - Colon adenocarcinoma(37;0.0123)|Colorectal(14;0.0171)	3	501	+		all_cancers(142;4.41e-05)|all_epithelial(76;3.65e-07)|Colorectal(10;0.00115)|Prostate(80;0.00133)|Ovarian(225;0.0443)	101			Nudix hydrolase.		C9J778|Q6P2D4|Q7Z5W5|Q8NBG5	Silent	SNP	ENST00000389063.2	37	c.303T>C	CCDS34210.1																																																																																				0.328	DCP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370765.3	NM_152624		23	76	0	0	0	1	0	23	76					C	112327915	T	C	112327915	2	2	305	1	0	0	0	0	0	0	0	1	4300	1683	59	4		4	DCP2	5	112327915	Silent	SNP	T	TCGA-KK-A59V-01A-11D-A29Q-08	17236673	112327915	68587345	315	14832											
CCDC112	153733	broad.mit.edu	37	chr5	114610974	114610974	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atttttcatgctgttgaactTcatcttgtgtttttccagga	7	20	7	7	0	3	1	2	1	1	0	4	2	4	2	1	1	2	3	1	1	1	7			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr5:114610974T>C	ENST00000512261.1	-	7	1024	c.608A>G	c.(607-609)gAa>gGa	p.E203G	CCDC112_ENST00000395557.4_Missense_Mutation_p.E203G|CCDC112_ENST00000379611.5_Missense_Mutation_p.E286G|CCDC112_ENST00000503027.1_5'Flank|CCDC112_ENST00000506442.1_Missense_Mutation_p.E203G			Q8NEF3	CC112_HUMAN	coiled-coil domain containing 112	203										endometrium(2)|kidney(1)|large_intestine(8)|lung(8)|skin(1)	20		all_cancers(142;0.000523)|all_epithelial(76;6.44e-06)|Prostate(80;0.00955)|Ovarian(225;0.0443)|all_lung(232;0.132)|Breast(839;0.195)		OV - Ovarian serous cystadenocarcinoma(64;4.09e-08)|Epithelial(69;5.28e-08)|all cancers(49;7.06e-06)		CTGTTGAACTTCATCTTGTGT	0.323																																						ENST00000379611.5																			0				endometrium(2)|kidney(1)|large_intestine(8)|lung(8)|skin(1)	20						c.(856-858)gAa>gGa		coiled-coil domain containing 112							78	82	81					5																	114610974		2202	4300	6502	SO:0001583	missense	153733							g.chr5:114610974T>C	BC031242	CCDS4117.1, CCDS34213.1	5q22.3	2009-04-17			ENSG00000164221	ENSG00000164221			28599	protein-coding gene	gene with protein product						12477932	Standard	NM_001040440		Approved	MGC39633	uc003kqz.2	Q8NEF3	OTTHUMG00000128894	ENST00000512261.1:c.608A>G	5.37:g.114610974T>C	ENSP00000423712:p.Glu203Gly					CCDC112_ENST00000506442.1_Missense_Mutation_p.E203G|CCDC112_ENST00000395557.4_Missense_Mutation_p.E203G|CCDC112_ENST00000512261.1_Missense_Mutation_p.E203G	p.E286G	NM_001040440.2	NP_001035530.1	Q8NEF3	CC112_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;4.09e-08)|Epithelial(69;5.28e-08)|all cancers(49;7.06e-06)	6	1144	-		all_cancers(142;0.000523)|all_epithelial(76;6.44e-06)|Prostate(80;0.00955)|Ovarian(225;0.0443)|all_lung(232;0.132)|Breast(839;0.195)	203					Q6A334	Missense_Mutation	SNP	ENST00000512261.1	37	c.857A>G	CCDS4117.1	.	.	.	.	.	.	.	.	.	.	T	23.2	4.382177	0.82792	.	.	ENSG00000164221	ENST00000379611;ENST00000512261;ENST00000506442;ENST00000395557	T;T;T;T	0.23552	1.9;1.98;2.05;1.98	6.07	6.07	0.98685	.	0.193845	0.53938	D	0.000052	T	0.29945	0.0749	L	0.52573	1.65	0.44275	D	0.997131	P;P;P	0.46142	0.873;0.873;0.873	B;B;B	0.42361	0.385;0.385;0.298	T	0.02950	-1.1090	10	0.56958	D	0.05	-12.0201	16.3141	0.82909	0.0:0.0:0.0:1.0	.	203;286;203	D6RF76;Q8NEF3-2;Q8NEF3	.;.;CC112_HUMAN	G	286;203;203;203	ENSP00000368931:E286G;ENSP00000423712:E203G;ENSP00000424876:E203G;ENSP00000378925:E203G	ENSP00000368931:E286G	E	-	2	0	CCDC112	114638873	1.000000	0.71417	0.996000	0.52242	0.992000	0.81027	6.842000	0.75379	2.326000	0.78906	0.533000	0.62120	GAA		0.323	CCDC112-003	PUTATIVE	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000370999.1	NM_152549		9	58	0	0	0	1	0	9	58					C	114610974	T	C	114610974	3	2	305	1	0	0	0	0	1	0	0	0	2749	1783	62	4	752	4	CCDC112	5	114610974	Missense_Mutation	SNP	T	TCGA-KK-A59V-01A-11D-A29Q-08	2283059	114610974	66304286	316	14833											
FAM170A	340069	broad.mit.edu	37	chr5	118969736	118969736	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acgaggagagactcctccccGctcacaacatgtctccttgt	9	9	8	15	2	2	1	1	0	1	1	5	4	4	2	4	1	1	1	4	1	1	1			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr5:118969736G>A	ENST00000515256.1	+	3	465	c.293G>A	c.(292-294)cGc>cAc	p.R98H				A1A519	F170A_HUMAN	family with sequence similarity 170, member A	98					positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R98H(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(7)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	24						ACTCCTCCCCGCTCACAACAT	0.483																																						ENST00000515256.1																			1	Substitution - Missense(1)	p.R98H(1)	large_intestine(1)	breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(7)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	24						c.(292-294)cGc>cAc		family with sequence similarity 170, member A							101	106	105					5																	118969736		1935	4141	6076	SO:0001583	missense	340069					intracellular	zinc ion binding	g.chr5:118969736G>A	AF427126	CCDS43353.1, CCDS54889.1	5q23.1	2008-06-12			ENSG00000164334	ENSG00000164334			27963	protein-coding gene	gene with protein product						12477932	Standard	NM_182761		Approved		uc003ksn.3	A1A519	OTTHUMG00000162946	ENST00000515256.1:c.293G>A	5.37:g.118969736G>A	ENSP00000422684:p.Arg98His						p.R98H			A1A519	F170A_HUMAN			3	465	+			98					Q66LM8|Q7Z4V2|Q8IW94	Missense_Mutation	SNP	ENST00000515256.1	37	c.293G>A		.	.	.	.	.	.	.	.	.	.	G	8.758	0.922949	0.18056	.	.	ENSG00000164334	ENST00000296787;ENST00000515256;ENST00000509264	T;T	0.29917	1.55;1.55	4.35	-2.1	0.07210	.	2.326850	0.01275	N	0.009541	T	0.15782	0.0380	N	0.08118	0	0.09310	N	1	B;D;D	0.57571	0.0;0.963;0.98	B;B;P	0.44597	0.001;0.36;0.454	T	0.03818	-1.1001	9	.	.	.	0.2677	1.5766	0.02626	0.236:0.4185:0.1677:0.1778	.	51;98;98	D6RIE9;A1A519;A2VCN0	.;F170A_HUMAN;.	H	51;98;98	ENSP00000422684:R98H;ENSP00000423697:R98H	.	R	+	2	0	FAM170A	118997635	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.938000	0.01546	-0.453000	0.07076	-0.826000	0.03091	CGC		0.483	FAM170A-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000371126.1	NM_182761		23	66	0	0	0	1	0	23	66					A	118969736	G	A	118969736	3	1	305	1	0	0	0	0	1	0	0	0	5489	1087	38	1	303	1	FAM170A	5	118969736	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	4358762	118969736	61945524	317	14834											
FTMT	94033	broad.mit.edu	37	chr5	121188336	121188336	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gccccggatgctggcctggcGgagtacctttttgacacaca	7	9	12	13	2	0	1	0	1	0	0	0	3	0	3	4	4	2	2	4	4	1	3			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr5:121188336G>A	ENST00000321339.1	+	1	687	c.678G>A	c.(676-678)gcG>gcA	p.A226A		NM_177478.1	NP_803431.1	Q8N4E7	FTMT_HUMAN	ferritin mitochondrial	226					cellular iron ion homeostasis (GO:0006879)|iron ion transport (GO:0006826)|positive regulation of cell proliferation (GO:0008284)|positive regulation of lyase activity (GO:0051349)|positive regulation of oxidoreductase activity (GO:0051353)|positive regulation of transferase activity (GO:0051347)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	ferric iron binding (GO:0008199)|ferroxidase activity (GO:0004322)			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	33		all_cancers(142;0.0124)|Prostate(80;0.0322)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	Epithelial(69;0.000171)|OV - Ovarian serous cystadenocarcinoma(64;0.000188)|all cancers(49;0.0027)		CTGGCCTGGCGGAGTACCTTT	0.502																																						ENST00000321339.1																			0				NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	33						c.(676-678)gcG>gcA		ferritin mitochondrial																																				SO:0001819	synonymous_variant	94033				cellular iron ion homeostasis|iron ion transport|positive regulation of cell proliferation|positive regulation of lyase activity|positive regulation of oxidoreductase activity|positive regulation of transferase activity	mitochondrion	ferric iron binding|ferroxidase activity	g.chr5:121188336G>A	BC034419	CCDS4128.1	5q23.1	2008-02-05			ENSG00000181867	ENSG00000181867			17345	protein-coding gene	gene with protein product		608847				11323407	Standard	NM_177478		Approved	MtF	uc003kss.3	Q8N4E7	OTTHUMG00000128912	ENST00000321339.1:c.678G>A	5.37:g.121188336G>A							p.A226A	NM_177478.1	NP_803431.1	Q8N4E7	FTMT_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.206)	Epithelial(69;0.000171)|OV - Ovarian serous cystadenocarcinoma(64;0.000188)|all cancers(49;0.0027)	1	687	+		all_cancers(142;0.0124)|Prostate(80;0.0322)	226						Silent	SNP	ENST00000321339.1	37	c.678G>A	CCDS4128.1																																																																																				0.502	FTMT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250884.1	NM_177478		45	140	0	0	0	1	0	45	140					A	121188336	G	A	121188336	2	1	305	1	0	0	0	0	0	0	0	1	6085	1103	39	2		2	FTMT	5	121188336	Silent	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	2218600	121188336	59726924	318	14835											
ACSL6	23305	broad.mit.edu	37	chr5	131325195	131325195	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccccagaaattcagccctgtCggccacctgcacacagatgt	10	7	8	16	1	1	2	1	0	0	2	2	2	1	2	5	1	2	1	5	1	1	1			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr5:131325195C>T	ENST00000379240.1	-	5	535	c.382G>A	c.(382-384)Gac>Aac	p.D128N	ACSL6_ENST00000379249.3_Missense_Mutation_p.D128N|ACSL6_ENST00000379246.1_Missense_Mutation_p.D139N|ACSL6_ENST00000379255.1_Missense_Mutation_p.D93N|ACSL6_ENST00000357096.1_Missense_Mutation_p.D93N|ACSL6_ENST00000543479.1_Missense_Mutation_p.D128N|ACSL6_ENST00000544770.1_Missense_Mutation_p.D37N|ACSL6_ENST00000379244.1_Missense_Mutation_p.D128N|ACSL6_ENST00000379264.2_Missense_Mutation_p.D153N|ACSL6_ENST00000379272.2_Missense_Mutation_p.D128N|ACSL6_ENST00000296869.4_Missense_Mutation_p.D153N|ACSL6_ENST00000431707.1_Missense_Mutation_p.D93N			Q9UKU0	ACSL6_HUMAN	acyl-CoA synthetase long-chain family member 6	128					acyl-CoA metabolic process (GO:0006637)|cellular lipid metabolic process (GO:0044255)|cellular response to insulin stimulus (GO:0032869)|fatty acid transport (GO:0015908)|long-chain fatty acid metabolic process (GO:0001676)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|neuroblast proliferation (GO:0007405)|neuron development (GO:0048666)|phospholipid biosynthetic process (GO:0008654)|positive regulation of neuron projection development (GO:0010976)|positive regulation of plasma membrane long-chain fatty acid transport (GO:0010747)|positive regulation of triglyceride biosynthetic process (GO:0010867)|response to gravity (GO:0009629)|response to hypoxia (GO:0001666)|response to nutrient (GO:0007584)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|nucleus (GO:0005634)|peroxisome (GO:0005777)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|long-chain fatty acid-CoA ligase activity (GO:0004467)|protein homodimerization activity (GO:0042803)			NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	35		all_cancers(142;0.107)|Breast(839;0.198)|Lung NSC(810;0.216)|all_lung(232;0.248)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TCAGCCCTGTCGGCCACCTGC	0.458																																						ENST00000379264.2																			0				NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	35						c.(457-459)Gac>Aac		acyl-CoA synthetase long-chain family member 6							73	77	76					5																	131325195		2203	4300	6503	SO:0001583	missense	23305				fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane|plasma membrane	ATP binding|long-chain fatty acid-CoA ligase activity	g.chr5:131325195C>T	AB020644	CCDS34228.1, CCDS34229.1, CCDS56381.1, CCDS56382.1, CCDS56383.1	5q31	2008-02-05	2004-02-19	2004-02-20	ENSG00000164398	ENSG00000164398		"Acyl-CoA synthetase family"	16496	protein-coding gene	gene with protein product		604443	"fatty-acid-Coenzyme A ligase, long-chain 6"	FACL6		10502316, 10548543	Standard	NM_015256		Approved	KIAA0837, ACS2, LACS5, LACS2	uc003kvy.2	Q9UKU0	OTTHUMG00000150692	ENST00000379240.1:c.382G>A	5.37:g.131325195C>T	ENSP00000368542:p.Asp128Asn					ACSL6_ENST00000379246.1_Missense_Mutation_p.D139N|ACSL6_ENST00000379255.1_Missense_Mutation_p.D93N|ACSL6_ENST00000543479.1_Missense_Mutation_p.D128N|ACSL6_ENST00000544770.1_Missense_Mutation_p.D37N|ACSL6_ENST00000379244.1_Missense_Mutation_p.D128N|ACSL6_ENST00000379240.1_Missense_Mutation_p.D128N|ACSL6_ENST00000431707.1_Missense_Mutation_p.D93N|ACSL6_ENST00000357096.1_Missense_Mutation_p.D93N|ACSL6_ENST00000379272.2_Missense_Mutation_p.D128N|ACSL6_ENST00000379249.3_Missense_Mutation_p.D128N|ACSL6_ENST00000296869.4_Missense_Mutation_p.D153N	p.D153N	NM_001009185.2	NP_001009185.1	Q9UKU0	ACSL6_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		5	565	-		all_cancers(142;0.107)|Breast(839;0.198)|Lung NSC(810;0.216)|all_lung(232;0.248)	128					J3KPG3|O94924|O95829|Q108M9|Q108N0|Q4G191|Q86TN7	Missense_Mutation	SNP	ENST00000379240.1	37	c.457G>A		.	.	.	.	.	.	.	.	.	.	C	11.58	1.682208	0.29872	.	.	ENSG00000164398	ENST00000379249;ENST00000379264;ENST00000379272;ENST00000357096;ENST00000379255;ENST00000296869;ENST00000379246;ENST00000379244;ENST00000544770;ENST00000379240;ENST00000431707;ENST00000543479;ENST00000434099;ENST00000430403;ENST00000419502;ENST00000416557;ENST00000414078;ENST00000441995	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.41400	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;2.79;2.79;2.79;2.79	5.39	2.46	0.29980	AMP-dependent synthetase/ligase (1);	0.362582	0.34002	N	0.004343	T	0.38585	0.1046	M	0.69358	2.11	0.30244	N	0.794763	B;B;B;B;B;B;B	0.21225	0.016;0.053;0.019;0.02;0.015;0.015;0.015	B;B;B;B;B;B;B	0.25884	0.038;0.018;0.032;0.064;0.023;0.018;0.018	T	0.36866	-0.9730	10	0.40728	T	0.16	.	7.8384	0.29384	0.0:0.7047:0.0:0.2953	.	128;128;118;128;93;153;153	Q9UKU0-3;Q9UKU0-6;B4DFW3;Q9UKU0;Q9UKU0-7;Q9UKU0-1;Q9UKU0-8	.;.;.;ACSL6_HUMAN;.;.;.	N	128;153;128;93;93;153;139;128;37;128;93;128;93;128;128;128;128;93	ENSP00000368551:D128N;ENSP00000368566:D153N;ENSP00000368574:D128N;ENSP00000349608:D93N;ENSP00000368557:D93N;ENSP00000296869:D153N;ENSP00000368548:D139N;ENSP00000368546:D128N;ENSP00000445154:D37N;ENSP00000368542:D128N;ENSP00000413329:D93N;ENSP00000442124:D128N;ENSP00000397507:D93N;ENSP00000398423:D128N;ENSP00000388424:D128N;ENSP00000398381:D128N;ENSP00000394810:D128N;ENSP00000389189:D93N	ENSP00000296869:D153N	D	-	1	0	ACSL6	131353094	0.074000	0.21230	0.705000	0.30386	0.054000	0.15201	0.587000	0.23909	0.561000	0.29186	0.462000	0.41574	GAC		0.458	ACSL6-004	NOVEL	basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000132622.1	NM_015256		6	100	0	0	0	1	0	6	100					T	131325195	C	T	131325195	3	4	305	1	0	0	0	0	1	0	0	0	181	884	31	2	1861	2	ACSL6	5	131325195	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	10136859	131325195	49590065	319	14836											
DDX46	9879	broad.mit.edu	37	chr5	134118636	134118636	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tctgggttttgttttgtagaGgtaaatgtgtttcgattgga	7	19	13	2	1	1	1	0	0	1	1	2	3	1	2	0	3	0	5	0	3	3	8			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr5:134118636G>T	ENST00000354283.4	+	9	1182	c.1047G>T	c.(1045-1047)gaG>gaT	p.E349D	DDX46_ENST00000452510.2_Splice_Site_p.E349D|DDX46_ENST00000509178.1_3'UTR			Q7L014	DDX46_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 46	349					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)			NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			GTTTTGTAGAGGTAAATGTGT	0.343																																					Colon(13;391 453 4901 21675 24897)	ENST00000452510.2																			0				NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						c.e9-1		DEAD (Asp-Glu-Ala-Asp) box polypeptide 46							107	109	108					5																	134118636		2203	4300	6503	SO:0001630	splice_region_variant	9879				mRNA processing|RNA splicing	Cajal body|nuclear speck	ATP binding|ATP-dependent helicase activity|RNA binding	g.chr5:134118636G>T		CCDS34240.1, CCDS75306.1	5q31.1	2010-01-25			ENSG00000145833	ENSG00000145833		"DEAD-boxes"	18681	protein-coding gene	gene with protein product							Standard	XM_005272142		Approved	KIAA0801, FLJ25329, PRPF5, Prp5	uc003kzw.3	Q7L014	OTTHUMG00000163072	ENST00000354283.4:c.1046-1G>T	5.37:g.134118636G>T						DDX46_ENST00000509178.1_3'UTR|DDX46_ENST00000354283.4_Splice_Site_p.E349_splice	p.E349_splice	NM_014829.2	NP_055644.2	Q7L014	DDX46_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)		9	1205	+			349					O94894|Q96EI0|Q9Y658	Splice_Site	SNP	ENST00000354283.4	37	c.1045_splice	CCDS34240.1	.	.	.	.	.	.	.	.	.	.	G	14.25	2.480602	0.44044	.	.	ENSG00000145833	ENST00000452510;ENST00000354283	T;T	0.78816	-1.21;-1.21	5.03	3.22	0.36961	.	0.047678	0.85682	D	0.000000	T	0.65471	0.2694	N	0.25825	0.765	0.58432	D	0.999997	B	0.16396	0.017	B	0.23852	0.049	T	0.60244	-0.7301	10	0.34782	T	0.22	.	11.7186	0.51668	0.1472:0.0:0.8528:0.0	.	349	Q7L014	DDX46_HUMAN	D	349	ENSP00000416534:E349D;ENSP00000346236:E349D	ENSP00000346236:E349D	E	+	3	2	DDX46	134146535	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	1.769000	0.38522	1.116000	0.41820	0.557000	0.71058	GAG		0.343	DDX46-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371584.1	NM_014829	Missense_Mutation	8	64	1	0	0.00621372	1	0.0062834	8	64					T	134118636	G	T	134118636	5	4	305	1	0	0	0	0	0	0	1	0	4364	1014	35	5	1081	5	DDX46	5	134118636	Splice_Site	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	2793441	134118636	46796624	320	14837											
TGFBI	7045	broad.mit.edu	37	chr5	135382150	135382150	+	Frame_Shift_Del	DEL	C	C	-																															cggcagcttcaccatcttcgCccctagcaacgaggcctggg																										TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr5:135382150delC	ENST00000442011.2	+	4	586	c.425delC	c.(424-426)gccfs	p.A142fs	TGFBI_ENST00000305126.8_Frame_Shift_Del_p.A142fs	NM_000358.2	NP_000349.1	Q15582	BGH3_HUMAN	transforming growth factor, beta-induced, 68kDa	142	FAS1 1. {ECO:0000255|PROSITE- ProRule:PRU00082}.				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|chondrocyte differentiation (GO:0002062)|extracellular matrix organization (GO:0030198)|negative regulation of cell adhesion (GO:0007162)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	collagen binding (GO:0005518)|extracellular matrix binding (GO:0050840)|integrin binding (GO:0005178)			breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			ACCATCTTCGCCCCTAGCAAC	0.642																																						ENST00000442011.2																			0				breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32						c.(424-426)gcfs		transforming growth factor, beta-induced, 68kDa							26	29	28					5																	135382150		1980	4138	6118	SO:0001589	frameshift_variant	7045				angiogenesis|cell adhesion|cell proliferation|negative regulation of cell adhesion|response to stimulus|visual perception	extracellular space|proteinaceous extracellular matrix	integrin binding	g.chr5:135382150delC	M77349	CCDS47266.1	5q31	2008-02-05	2002-08-29		ENSG00000120708	ENSG00000120708			11771	protein-coding gene	gene with protein product		601692	"transforming growth factor, beta-induced, 68kD"	CSD3, LCD1, CSD1, CSD2		9463327	Standard	NM_000358		Approved	BIGH3, CDB1, CDGG1	uc003lbf.4	Q15582	OTTHUMG00000163213	ENST00000442011.2:c.425delC	5.37:g.135382150delC	ENSP00000416330:p.Ala142fs					TGFBI_ENST00000305126.8_Frame_Shift_Del_p.A142fs	p.A142fs	NM_000358.2	NP_000349.1	Q15582	BGH3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)		4	586	+			142			FAS1 1.		D3DQB1|O14471|O14472|O14476|O43216|O43217|O43218|O43219|Q53XM1	Frame_Shift_Del	DEL	ENST00000442011.2	37	c.425delC	CCDS47266.1																																																																																				0.642	TGFBI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372108.1			16	13						16	13	---	---	---	---	-	135382150	C	-	135382150	7	5	305	1	0	1	0	1	0	0	0	0	15817	739	26	0	439	0	TGFBI	5	135382150	Frame_Shift_Del	DEL	C	TCGA-KK-A59V-01A-11D-A29Q-08	1263514	135382150	45533110	321	14838											
MYOT	9499	broad.mit.edu	37	chr5	137206474	137206474	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttccattatcatccagccccGccagtgtacagagcaaagat	12	9	7	13	1	1	2	1	0	0	2	3	2	3	2	5	0	3	2	5	0	3	3			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr5:137206474G>A	ENST00000239926.4	+	2	508	c.134G>A	c.(133-135)cGc>cAc	p.R45H	MYOT_ENST00000509812.1_Intron|MYOT_ENST00000515645.1_Intron|MYOT_ENST00000421631.2_Intron|RP11-381K20.2_ENST00000514616.1_RNA	NM_006790.2	NP_006781	Q9UBF9	MYOTI_HUMAN	myotilin	45					muscle contraction (GO:0006936)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	structural constituent of muscle (GO:0008307)			cervix(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	23			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			ATCCAGCCCCGCCAGTGTACA	0.537																																						ENST00000239926.4																			0				cervix(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	23						c.(133-135)cGc>cAc		myotilin							124	118	120					5																	137206474		2203	4300	6503	SO:0001583	missense	9499				muscle contraction	actin cytoskeleton|sarcolemma|sarcomere	actin binding|structural constituent of muscle	g.chr5:137206474G>A	AF133820	CCDS4194.1, CCDS47268.1, CCDS75309.1	5q31.2	2014-09-17	2005-09-07	2005-09-07	ENSG00000120729	ENSG00000120729		"Immunoglobulin superfamily / I-set domain containing"	12399	protein-coding gene	gene with protein product		604103	"titin immunoglobulin domain protein (myotilin)", "limb-girdle muscular dystrophy 1A (autosomal dominant)"	TTID, LGMD1A, LGMD1		10486214, 10369880	Standard	NM_006790		Approved		uc003lbv.3	Q9UBF9	OTTHUMG00000129154	ENST00000239926.4:c.134G>A	5.37:g.137206474G>A	ENSP00000239926:p.Arg45His					RP11-381K20.2_ENST00000514616.1_RNA|MYOT_ENST00000509812.1_Intron|MYOT_ENST00000515645.1_Intron|MYOT_ENST00000421631.2_Intron	p.R45H	NM_006790.2	NP_006781.1	Q9UBF9	MYOTI_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)		2	508	+			45					A0A4R6|B4DT79	Missense_Mutation	SNP	ENST00000239926.4	37	c.134G>A	CCDS4194.1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.456203	0.84317	.	.	ENSG00000120729	ENST00000239926	T	0.68331	-0.32	5.72	4.85	0.62838	.	0.404164	0.23817	N	0.044277	T	0.65004	0.2650	N	0.24115	0.695	0.80722	D	1	D	0.76494	0.999	P	0.60117	0.869	T	0.59710	-0.7403	10	0.14656	T	0.56	.	13.4603	0.61223	0.0726:0.0:0.9274:0.0	.	45	Q9UBF9	MYOTI_HUMAN	H	45	ENSP00000239926:R45H	ENSP00000239926:R45H	R	+	2	0	MYOT	137234373	1.000000	0.71417	0.999000	0.59377	0.990000	0.78478	3.681000	0.54648	1.557000	0.49525	0.650000	0.86243	CGC		0.537	MYOT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251219.2	NM_006790		58	76	0	0	0	1	0	58	76					A	137206474	G	A	137206474	3	1	305	1	0	0	0	0	1	0	0	0	10094	1087	38	1	136	1	MYOT	5	137206474	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	1824324	137206474	43708786	322	14839											
REEP2	51308	broad.mit.edu	37	chr5	137777145	137777147	+	In_Frame_Del	DEL	CTC	CTC	-																															acgctcacggatatagtgctCtcctggtgaggtccagcgtc																										TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr5:137777145_137777147delCTC	ENST00000254901.5	+	3	299_301	c.177_179delCTC	c.(175-180)ctctcc>ctc	p.S60del	REEP2_ENST00000378339.2_In_Frame_Del_p.S60del|REEP2_ENST00000464751.2_3'UTR|REEP2_ENST00000506158.1_In_Frame_Del_p.S22del	NM_016606.2	NP_057690.2	Q9BRK0	REEP2_HUMAN	receptor accessory protein 2	60					cell death (GO:0008219)|endoplasmic reticulum tubular network organization (GO:0071786)|protein transport into membrane raft (GO:0032596)|regulation of intracellular transport (GO:0032386)|sensory perception of bitter taste (GO:0050913)|sensory perception of sweet taste (GO:0050916)	cytoplasmic microtubule (GO:0005881)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)				endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	12			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			ATATAGTGCTCTCCTGGTGAGGT	0.591																																						ENST00000378339.2																			0				endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	12						c.(175-180)ctc>ct		receptor accessory protein 2																																				SO:0001651	inframe_deletion	51308					integral to membrane		g.chr5:137777145_137777147delCTC	AK056193	CCDS4205.1, CCDS64259.1	5q31	2014-03-12	2006-02-07	2006-02-07	ENSG00000132563	ENSG00000132563		"Receptor accessory proteins"	17975	protein-coding gene	gene with protein product		609347	"chromosome 5 open reading frame 19"	C5orf19		16271481, 15550249, 24388663	Standard	NM_016606		Approved	SGC32445, SPG72	uc003lda.4	Q9BRK0	OTTHUMG00000129205	ENST00000254901.5:c.177_179delCTC	5.37:g.137777145_137777147delCTC	ENSP00000254901:p.Ser60del					REEP2_ENST00000254901.5_In_Frame_Del_p.LS59del|REEP2_ENST00000506158.1_In_Frame_Del_p.LS21del|REEP2_ENST00000464751.2_3'UTR	p.LS59del	NM_001271803.1	NP_001258732.1	Q9BRK0	REEP2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)		3	369_371	+			59					Q53EM8|Q9NYF2	In_Frame_Del	DEL	ENST00000254901.5	37	c.177_179delCTC	CCDS4205.1																																																																																				0.591	REEP2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000251284.1	NM_016606		21	67						21	67	---	---	---	---	-	137777147	CTC	-	137777145	7	5	305	1	0	1	0	1	0	0	0	0	13205	900	32	0	187	0	REEP2	5	137777145	In_Frame_Del	DEL	CTC	TCGA-KK-A59V-01A-11D-A29Q-08	570671	137777145	43138115	323	14840											
EGR1	1958	broad.mit.edu	37	chr5	137802682	137802682	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catctccagcggcctcctccGcctccgcctcccagagccca	5	6	7	23	3	1	1	0	0	1	1	6	1	5	1	9	1	2	0	9	1	0	0			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr5:137802682G>A	ENST00000239938.4	+	2	816	c.544G>A	c.(544-546)Gcc>Acc	p.A182T		NM_001964.2	NP_001955.1	P18146	EGR1_HUMAN	early growth response 1	182					BMP signaling pathway (GO:0030509)|cellular response to antibiotic (GO:0071236)|cellular response to cAMP (GO:0071320)|cellular response to drug (GO:0035690)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to gamma radiation (GO:0071480)|cellular response to gonadotropin stimulus (GO:0071371)|cellular response to growth factor stimulus (GO:0071363)|cellular response to heparin (GO:0071504)|cellular response to hyperoxia (GO:0071455)|cellular response to hypoxia (GO:0071456)|cellular response to insulin stimulus (GO:0032869)|cellular response to isoquinoline alkaloid (GO:0071317)|cellular response to mechanical stimulus (GO:0071260)|cellular response to mycophenolic acid (GO:0071506)|cellular response to steroid hormone stimulus (GO:0071383)|circadian rhythm (GO:0007623)|cytokine-mediated signaling pathway (GO:0019221)|glomerular mesangial cell proliferation (GO:0072110)|interleukin-1-mediated signaling pathway (GO:0070498)|learning or memory (GO:0007611)|long-term synaptic potentiation (GO:0060291)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|oligodendrocyte differentiation (GO:0048709)|positive regulation of glomerular metanephric mesangial cell proliferation (GO:0072303)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of protein sumoylation (GO:0033233)|response to amphetamine (GO:0001975)|response to carbon monoxide (GO:0034465)|response to cocaine (GO:0042220)|response to electrical stimulus (GO:0051602)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to norepinephrine (GO:0071873)|response to nutrient levels (GO:0031667)|skeletal muscle cell differentiation (GO:0035914)|T cell differentiation (GO:0030217)|transcription from RNA polymerase II promoter (GO:0006366)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|histone acetyltransferase binding (GO:0035035)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)	p.A182T(1)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|ovary(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			GGCCTCCTCCGCCTCCGCCTC	0.652																																						ENST00000239938.4																			1	Substitution - Missense(1)	p.A182T(1)	kidney(1)	haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|ovary(1)	6						c.(544-546)Gcc>Acc		early growth response 1							111	114	113					5																	137802682		2203	4300	6503	SO:0001583	missense	1958				cellular response to heparin|cellular response to mycophenolic acid|glomerular mesangial cell proliferation|interleukin-1-mediated signaling pathway|positive regulation of glomerular metanephric mesangial cell proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of protein sumoylation|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	cytoplasm|nucleus	histone acetyltransferase binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr5:137802682G>A	M62829	CCDS4206.1	5q23-q31	2013-01-08			ENSG00000120738	ENSG00000120738		"Zinc fingers, C2H2-type"	3238	protein-coding gene	gene with protein product	"nerve growth factor-induced protein A", "transcription factor ETR103", "zinc finger protein 225", "early growth response protein 1"	128990				3127059	Standard	NM_001964		Approved	TIS8, G0S30, NGFI-A, KROX-24, ZIF-268, AT225, ZNF225	uc003ldb.1	P18146	OTTHUMG00000129197	ENST00000239938.4:c.544G>A	5.37:g.137802682G>A	ENSP00000239938:p.Ala182Thr						p.A182T	NM_001964.2	NP_001955.1	P18146	EGR1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)		2	816	+			182						Missense_Mutation	SNP	ENST00000239938.4	37	c.544G>A	CCDS4206.1	.	.	.	.	.	.	.	.	.	.	T	28.6	4.932384	0.92389	.	.	ENSG00000120738	ENST00000535792;ENST00000239938	T	0.20598	2.06	4.23	4.23	0.50019	.	0.072868	0.56097	D	0.000024	T	0.13114	0.0318	N	0.14661	0.345	0.25062	N	0.991055	B	0.06786	0.001	B	0.09377	0.004	T	0.18116	-1.0347	10	0.59425	D	0.04	-23.8891	10.8733	0.46896	0.0:0.0:0.1586:0.8413	.	182	P18146	EGR1_HUMAN	T	182	ENSP00000239938:A182T	ENSP00000239938:A182T	A	+	1	0	EGR1	137830581	0.797000	0.28877	0.132000	0.22025	0.700000	0.40528	1.159000	0.31749	0.507000	0.28148	-0.824000	0.03097	GCC		0.652	EGR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251274.1	NM_001964		37	236	0	0	0	1	0	37	236					A	137802682	G	A	137802682	3	1	305	1	0	0	0	0	1	0	0	0	4971	1087	38	1	550	1	EGR1	5	137802682	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	25537	137802682	43112578	324	14841											
NRG2	9542	broad.mit.edu	37	chr5	139260510	139260510	+	Frame_Shift_Del	DEL	C	C	-																															ctcggcctcgcagacatactCcccagcgtcctccaccttca																										TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr5:139260510delC	ENST00000361474.1	-	3	1146	c.922delG	c.(922-924)gagfs	p.E308fs	NRG2_ENST00000340391.3_Frame_Shift_Del_p.E105fs|NRG2_ENST00000518130.1_5'UTR|NRG2_ENST00000541337.1_Frame_Shift_Del_p.E308fs|NRG2_ENST00000394770.1_Frame_Shift_Del_p.E308fs|NRG2_ENST00000545385.1_Frame_Shift_Del_p.E308fs|NRG2_ENST00000289422.7_Frame_Shift_Del_p.E308fs|NRG2_ENST00000289409.4_Frame_Shift_Del_p.E308fs|NRG2_ENST00000358522.3_Frame_Shift_Del_p.E308fs	NM_004883.2	NP_004874.1	O14511	NRG2_HUMAN	neuregulin 2	308	Ig-like C2-type.				embryo development (GO:0009790)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)			breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	25			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAGACATACTCCCCAGCGTCC	0.607																																						ENST00000541337.1																			0				breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	25						c.(922-924)agfs		neuregulin 2							124	117	119					5																	139260510		2203	4300	6503	SO:0001589	frameshift_variant	9542				embryo development	extracellular region|integral to membrane|plasma membrane	growth factor activity	g.chr5:139260510delC		CCDS4217.1, CCDS54910.1	5q23-q33	2013-01-11			ENSG00000158458	ENSG00000158458		"Immunoglobulin superfamily / I-set domain containing"	7998	protein-coding gene	gene with protein product	"neural- and thymus-derived activator for ErbB kinases", "divergent of neuregulin-1"	603818				9168114, 9168115	Standard	NM_004883		Approved	Don-1, NTAK, HRG2	uc003lev.2	O14511	OTTHUMG00000129241	ENST00000361474.1:c.922delG	5.37:g.139260510delC	ENSP00000354910:p.Glu308fs					NRG2_ENST00000545385.1_Frame_Shift_Del_p.E308fs|NRG2_ENST00000289422.7_Frame_Shift_Del_p.E308fs|NRG2_ENST00000394770.1_Frame_Shift_Del_p.E308fs|NRG2_ENST00000340391.3_Frame_Shift_Del_p.E105fs|NRG2_ENST00000361474.1_Frame_Shift_Del_p.E308fs|NRG2_ENST00000289409.4_Frame_Shift_Del_p.E308fs|NRG2_ENST00000358522.3_Frame_Shift_Del_p.E308fs|NRG2_ENST00000518130.1_5'UTR	p.E308fs	NM_001184935.1	NP_001171864.1	O14511	NRG2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		3	1151	-			351			Ig-like C2-type.			Frame_Shift_Del	DEL	ENST00000361474.1	37	c.922delG	CCDS4217.1																																																																																				0.607	NRG2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251340.1	NM_013982		9	82						9	82	---	---	---	---	-	139260510	C	-	139260510	7	5	305	1	0	1	0	1	0	0	0	0	10648	864	30	0	1753	0	NRG2	5	139260510	Frame_Shift_Del	DEL	C	TCGA-KK-A59V-01A-11D-A29Q-08	1457828	139260510	41654750	325	14842											
PCDHA3	56145	broad.mit.edu	37	chr5	140182290	140182290	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acggcgggtgggggagcgcgCgctgtcgagctacgtgtcgg	4	6	21	10	8	0	0	0	0	0	0	2	2	0	1	0	5	3	2	0	5	1	1			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr5:140182290C>T	ENST00000522353.2	+	1	1508	c.1508C>T	c.(1507-1509)gCg>gTg	p.A503V	PCDHA3_ENST00000532566.2_Missense_Mutation_p.A503V|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000520672.2_Intron	NM_018906.2	NP_061729.1	Q9Y5H8	PCDA3_HUMAN	protocadherin alpha 3	503	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGGGAGCGCGCGCTGTCGAGC	0.682																																						ENST00000522353.2																			0				NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1)	95						c.(1507-1509)gCg>gTg									63	65	64					5																	140182290		2203	4299	6502	SO:0001583	missense	0							g.chr5:140182290C>T	AF152481	CCDS54915.1	5q31	2010-11-26				ENSG00000255408		"Cadherins / Protocadherins : Clustered"	8669	other	complex locus constituent	"KIAA0345-like 11"	606309				10380929	Standard	NM_018906		Approved	PCDH-ALPHA3		Q9Y5H8		ENST00000522353.2:c.1508C>T	5.37:g.140182290C>T	ENSP00000429808:p.Ala503Val					PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA2_ENST00000520672.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA3_ENST00000532566.2_Missense_Mutation_p.A503V	p.A503V	NM_018906.2	NP_061729.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1508	+								O75286	Missense_Mutation	SNP	ENST00000522353.2	37	c.1508C>T	CCDS54915.1	.	.	.	.	.	.	.	.	.	.	c	16.75	3.208757	0.58343	.	.	ENSG00000255408	ENST00000522353;ENST00000532566	T;T	0.54866	0.63;0.55	4.75	1.88	0.25563	Cadherin (4);Cadherin-like (1);	1.573660	0.04380	U	0.360633	T	0.50257	0.1605	N	0.21324	0.655	0.09310	N	1	P;P	0.52692	0.955;0.869	P;B	0.52309	0.695;0.426	T	0.39461	-0.9613	10	0.62326	D	0.03	.	6.5408	0.22378	0.0:0.6382:0.1297:0.2321	.	503;503	Q9Y5H8-2;Q9Y5H8	.;PCDA3_HUMAN	V	503	ENSP00000429808:A503V;ENSP00000434086:A503V	ENSP00000429808:A503V	A	+	2	0	PCDHA3	140162474	0.000000	0.05858	0.963000	0.40424	0.802000	0.45316	-0.039000	0.12124	0.156000	0.19299	0.461000	0.40582	GCG		0.682	PCDHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372848.2	NM_018906		48	115	0	0	0	1	0	48	115					T	140182290	C	T	140182290	3	4	305	1	0	0	0	0	1	0	0	0	11525	768	27	1	1510	1	PCDHA3	5	140182290	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	921780	140182290	40732970	326	14843											
PCDHA3	56145	broad.mit.edu	37	chr5	140182315	140182315	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgagctacgtgtcggtacaCgcggagagcggcaaggtgta	9	7	16	9	6	0	1	0	0	0	1	2	3	0	1	0	4	4	4	0	4	4	3			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr5:140182315C>T	ENST00000522353.2	+	1	1533	c.1533C>T	c.(1531-1533)caC>caT	p.H511H	PCDHA3_ENST00000532566.2_Silent_p.H511H|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000520672.2_Intron	NM_018906.2	NP_061729.1	Q9Y5H8	PCDA3_HUMAN	protocadherin alpha 3	511	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGTCGGTACACGCGGAGAGCG	0.706																																						ENST00000522353.2																			0				NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1)	95						c.(1531-1533)caC>caT									76	77	76					5																	140182315		2203	4299	6502	SO:0001819	synonymous_variant	0							g.chr5:140182315C>T	AF152481	CCDS54915.1	5q31	2010-11-26				ENSG00000255408		"Cadherins / Protocadherins : Clustered"	8669	other	complex locus constituent	"KIAA0345-like 11"	606309				10380929	Standard	NM_018906		Approved	PCDH-ALPHA3		Q9Y5H8		ENST00000522353.2:c.1533C>T	5.37:g.140182315C>T						PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA2_ENST00000520672.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA3_ENST00000532566.2_Silent_p.H511H	p.H511H	NM_018906.2	NP_061729.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1533	+								O75286	Silent	SNP	ENST00000522353.2	37	c.1533C>T	CCDS54915.1																																																																																				0.706	PCDHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372848.2	NM_018906		62	185	0	0	0	1	0	62	185					T	140182315	C	T	140182315	2	4	305	1	0	0	0	0	0	0	0	1	11525	535	19	1		1	PCDHA3	5	140182315	Silent	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	25	140182315	40732945	327	14844											
PCDHA9	9752	broad.mit.edu	37	chr5	140229397	140229397	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttcactgtgggccacggcCagggtgtctgtggaggtggc	4	9	17	11	1	2	0	1	0	1	0	2	1	2	1	3	6	0	0	3	6	0	1			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr5:140229397C>A	ENST00000532602.1	+	1	2350	c.1317C>A	c.(1315-1317)gcC>gcA	p.A439A	PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA9_ENST00000378122.3_Silent_p.A439A	NM_031857.1	NP_114063.1	Q9Y5H5	PCDA9_HUMAN	protocadherin alpha 9	439	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	59			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGGCCACGGCCAGGGTGTCTG	0.667																																					Melanoma(55;1800 1972 14909)	ENST00000378122.3																			0				breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	59						c.(1315-1317)gcC>gcA									83	79	80					5																	140229397		2196	4268	6464	SO:0001819	synonymous_variant	0							g.chr5:140229397C>A	AF152487	CCDS54920.1	5q31	2010-11-26				ENSG00000204961		"Cadherins / Protocadherins : Clustered"	8675	other	complex locus constituent	"KIAA0345-like 5"	606315				10380929	Standard	NM_031857		Approved	KIAA0345, PCDH-ALPHA9		Q9Y5H5		ENST00000532602.1:c.1317C>A	5.37:g.140229397C>A						PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA9_ENST00000532602.1_Silent_p.A439A|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron	p.A439A	NM_014005.3	NP_054724.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2041	+								O15053|Q2M3S5	Silent	SNP	ENST00000532602.1	37	c.1317C>A	CCDS54920.1																																																																																				0.667	PCDHA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372896.2	NM_031857		61	146	1	0	3.28156e-27	1	3.4573e-27	61	146					A	140229397	C	A	140229397	2	1	305	1	0	0	0	0	0	0	0	1	11531	581	21	5		5	PCDHA9	5	140229397	Silent	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	47082	140229397	40685863	328	14845											
PCDHA11	56138	broad.mit.edu	37	chr5	140249999	140249999	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcgccttctctgtgggccacGgccagggtatccgtggaggt	4	10	15	12	3	1	0	0	0	1	0	4	1	2	1	4	5	0	1	4	5	1	2	rs374225281		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr5:140249999G>A	ENST00000398640.2	+	1	1311	c.1311G>A	c.(1309-1311)acG>acA	p.T437T	PCDHA10_ENST00000307360.5_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA7_ENST00000525929.1_Intron	NM_018902.3	NP_061725.1	Q9Y5I1	PCDAB_HUMAN	protocadherin alpha 11	437	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			breast(1)|lung(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGTGGGCCACGGCCAGGGTAT	0.637																																						ENST00000398640.2																			0				breast(1)|lung(1)	2						c.(1309-1311)acG>acA				G	,,,,,,,,,,,,,,	0,4406		0,0,2203	128	137	134		,,1311,,,,,,,,,,,,1311	-11.3	0	5		134	1,8599	1.2+/-3.3	0,1,4299	no	intron,intron,coding-synonymous,intron,intron,intron,intron,intron,intron,intron,intron,intron,intron,intron,coding-synonymous	PCDHA9,PCDHA11,PCDHA10,PCDHA8,PCDHA7,PCDHA6,PCDHA5,PCDHA4,PCDHA3,PCDHA2,PCDHA1	NM_018900.2,NM_018901.2,NM_018902.3,NM_018905.2,NM_018906.2,NM_018907.2,NM_018908.2,NM_018909.2,NM_018910.2,NM_018911.2,NM_031411.1,NM_031849.1,NM_031857.1,NM_031860.1,NM_031861.1	,,,,,,,,,,,,,,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,,,,,,,,,,,,,,	,,437/950,,,,,,,,,,,,437/811	140249999	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0							g.chr5:140249999G>A	AF152476	CCDS47284.1, CCDS75326.1	5q31	2010-11-26			ENSG00000249158	ENSG00000249158		"Cadherins / Protocadherins : Clustered"	8665	other	complex locus constituent	"KIAA0345-like 3", "ortholog of mouse CNR7"	606317		CNRS7		10380929, 10662547	Standard	NM_018902		Approved	CNR7, CRNR7, CNRN7, PCDH-ALPHA11		Q9Y5I1	OTTHUMG00000163369	ENST00000398640.2:c.1311G>A	5.37:g.140249999G>A						PCDHA6_ENST00000529310.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA7_ENST00000525929.1_Intron	p.T437T	NM_018902.3	NP_061725.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1311	+								B2RN58|O75279	Silent	SNP	ENST00000398640.2	37	c.1311G>A	CCDS47284.1																																																																																				0.637	PCDHA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372885.2	NM_018902		67	241	0	0	0	1	0	67	241					A	140249999	G	A	140249999	2	1	305	1	0	0	0	0	0	0	0	1	11521	1103	39	2		2	PCDHA11	5	140249999	Silent	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	20602	140249999	40665261	329	14846											
PCDHB1	29930	broad.mit.edu	37	chr5	140431763	140431763	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtggtggttctggatgtcaaCgaccacgtgccccagttctc	6	11	12	12	2	3	0	1	0	2	0	4	2	3	1	3	3	2	2	3	3	1	2			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr5:140431763C>T	ENST00000306549.3	+	1	785	c.708C>T	c.(706-708)aaC>aaT	p.N236N		NM_013340.2	NP_037472.2	Q9Y5F3	PCDB1_HUMAN	protocadherin beta 1	236	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.N236N(1)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|liver(1)|lung(13)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	53			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGGATGTCAACGACCACGTGC	0.597																																						ENST00000306549.3																			1	Substitution - coding silent(1)	p.N236N(1)	large_intestine(1)	NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|liver(1)|lung(13)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	53						c.(706-708)aaC>aaT									33	32	33					5																	140431763		2203	4300	6503	SO:0001819	synonymous_variant	0				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140431763C>T	AF152488	CCDS4243.1	5q31	2010-01-26			ENSG00000171815	ENSG00000171815		"Cadherins / Protocadherins : Clustered"	8680	other	protocadherin		606327				10380929	Standard	NM_013340		Approved	PCDH-BETA1	uc003lik.1	Q9Y5F3	OTTHUMG00000129627	ENST00000306549.3:c.708C>T	5.37:g.140431763C>T							p.N236N	NM_013340.2	NP_037472.2	Q9Y5F3	PCDB1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	785	+			236			Cadherin 2.		Q2M257	Silent	SNP	ENST00000306549.3	37	c.708C>T	CCDS4243.1																																																																																				0.597	PCDHB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251822.2	NM_013340		7	19	0	0	0	1	0	7	19					T	140431763	C	T	140431763	2	4	305	1	0	0	0	0	0	0	0	1	11534	535	19	1		1	PCDHB1	5	140431763	Silent	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	181764	140431763	40483497	330	14847											
PCDHB5	26167	broad.mit.edu	37	chr5	140516576	140516576	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gccctcaggtcgctggactaCgaggccctgcaggcgttcga	6	7	14	14	4	1	0	1	0	0	0	3	3	1	1	2	4	2	3	2	4	1	2			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr5:140516576C>T	ENST00000231134.5	+	1	1777	c.1560C>T	c.(1558-1560)taC>taT	p.Y520Y		NM_015669.2	NP_056484.1	Q9Y5E4	PCDB5_HUMAN	protocadherin beta 5	520	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.Y520Y(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	81			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CGCTGGACTACGAGGCCCTGC	0.701																																						ENST00000231134.5																			1	Substitution - coding silent(1)	p.Y520Y(1)	lung(1)	breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	81						c.(1558-1560)taC>taT									63	66	65					5																	140516576		2203	4300	6503	SO:0001819	synonymous_variant	0				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding|protein binding	g.chr5:140516576C>T	AF152498	CCDS4247.1	5q31	2010-01-26			ENSG00000113209	ENSG00000113209		"Cadherins / Protocadherins : Clustered"	8690	other	protocadherin		606331				10380929	Standard	NM_015669		Approved	DKFZp586B0217, PCDH-BETA5	uc003liq.3	Q9Y5E4	OTTHUMG00000129616	ENST00000231134.5:c.1560C>T	5.37:g.140516576C>T							p.Y520Y	NM_015669.2	NP_056484.1	Q9Y5E4	PCDB5_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1777	+			520			Cadherin 5.		Q549F4|Q9UFU9	Silent	SNP	ENST00000231134.5	37	c.1560C>T	CCDS4247.1																																																																																				0.701	PCDHB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251811.1	NM_015669		11	190	0	0	0	1	0	11	190					T	140516576	C	T	140516576	2	4	305	1	0	0	0	0	0	0	0	1	11545	547	19	1		1	PCDHB5	5	140516576	Silent	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	84813	140516576	40398684	331	14848											
PCDHB12	56124	broad.mit.edu	37	chr5	140589863	140589863	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cctacgccctgttcgtccgcGagaacaacagccccgccctg	7	6	9	19	5	0	1	0	0	0	1	2	2	1	1	6	0	4	1	6	0	3	2			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr5:140589863G>A	ENST00000239450.2	+	1	1573	c.1384G>A	c.(1384-1386)Gag>Aag	p.E462K	PCDHB12_ENST00000541609.1_Missense_Mutation_p.E125K	NM_018932.3	NP_061755.1	Q9Y5F1	PCDBC_HUMAN	protocadherin beta 12	462	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GTTCGTCCGCGAGAACAACAG	0.617																																						ENST00000239450.2																			0				NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1)	83						c.(1384-1386)Gag>Aag									96	94	95					5																	140589863		2203	4300	6503	SO:0001583	missense	0				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	g.chr5:140589863G>A	AF152491	CCDS4254.1	5q31	2010-01-26			ENSG00000120328	ENSG00000120328		"Cadherins / Protocadherins : Clustered"	8683	other	protocadherin		606338				10380929	Standard	NM_018932		Approved	PCDH-BETA12	uc003liz.3	Q9Y5F1	OTTHUMG00000129620	ENST00000239450.2:c.1384G>A	5.37:g.140589863G>A	ENSP00000239450:p.Glu462Lys					PCDHB12_ENST00000541609.1_Missense_Mutation_p.E125K	p.E462K	NM_018932.3	NP_061755.1	Q9Y5F1	PCDBC_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1573	+			462			Cadherin 5.		B4DDU1	Missense_Mutation	SNP	ENST00000239450.2	37	c.1384G>A	CCDS4254.1	.	.	.	.	.	.	.	.	.	.	G	17.08	3.298966	0.60195	.	.	ENSG00000120328	ENST00000541609;ENST00000239450;ENST00000507840	T;T	0.76316	-1.01;-1.01	3.83	2.95	0.34219	Cadherin (4);Cadherin-like (1);	.	.	.	.	D	0.91723	0.7383	H	0.98333	4.205	0.40647	D	0.982004	D	0.89917	1.0	D	0.97110	1.0	D	0.92708	0.6180	9	0.87932	D	0	.	10.8885	0.46981	0.0959:0.0:0.9041:0.0	.	462	Q9Y5F1	PCDBC_HUMAN	K	125;462;82	ENSP00000440199:E125K;ENSP00000239450:E462K	ENSP00000239450:E462K	E	+	1	0	PCDHB12	140570047	1.000000	0.71417	0.604000	0.28916	0.208000	0.24298	9.745000	0.98856	0.730000	0.32425	0.485000	0.47835	GAG		0.617	PCDHB12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251815.2	NM_018932		12	201	0	0	0	1	0	12	201					A	140589863	G	A	140589863	3	1	305	1	0	0	0	0	1	0	0	0	11537	1059	37	2	1386	2	PCDHB12	5	140589863	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	73287	140589863	40325397	332	14849											
PCDHB15	56121	broad.mit.edu	37	chr5	140625331	140625331	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agtgggggagctagccgagcGgggagcccgggtagtttctg	6	7	20	8	3	1	0	0	0	1	0	1	3	1	2	2	5	4	3	2	5	2	3			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr5:140625331G>A	ENST00000231173.3	+	1	185	c.185G>A	c.(184-186)cGg>cAg	p.R62Q		NM_018935.2	NP_061758.1	Q9Y5E8	PCDBF_HUMAN	protocadherin beta 15	62	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|endometrium(8)|kidney(3)|large_intestine(14)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	61			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CTAGCCGAGCGGGGAGCCCGG	0.552																																						ENST00000231173.3																			0				NS(1)|breast(3)|endometrium(8)|kidney(3)|large_intestine(14)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	61						c.(184-186)cGg>cAg									48	56	53					5																	140625331		2203	4300	6503	SO:0001583	missense	0				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	g.chr5:140625331G>A	AF152494	CCDS4257.1	5q31	2011-06-07			ENSG00000113248	ENSG00000113248		"Cadherins / Protocadherins : Clustered"	8686	other	protocadherin		606341				10380929	Standard	NM_018935		Approved	PCDH-BETA15	uc003lje.3	Q9Y5E8	OTTHUMG00000129609	ENST00000231173.3:c.185G>A	5.37:g.140625331G>A	ENSP00000231173:p.Arg62Gln						p.R62Q	NM_018935.2	NP_061758.1	Q9Y5E8	PCDBF_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	185	+			62			Cadherin 1.		Q8IUX5	Missense_Mutation	SNP	ENST00000231173.3	37	c.185G>A	CCDS4257.1	.	.	.	.	.	.	.	.	.	.	G	16.78	3.217537	0.58560	.	.	ENSG00000113248	ENST00000231173	T	0.40225	1.04	4.92	4.92	0.64577	Cadherin, N-terminal (1);Cadherin (2);Cadherin-like (1);	.	.	.	.	T	0.76772	0.4034	H	0.96861	3.895	0.19300	N	0.99998	D	0.71674	0.998	D	0.69307	0.963	T	0.74372	-0.3687	9	0.72032	D	0.01	.	18.0878	0.89463	0.0:0.0:1.0:0.0	.	62	Q9Y5E8	PCDBF_HUMAN	Q	62	ENSP00000231173:R62Q	ENSP00000231173:R62Q	R	+	2	0	PCDHB15	140605515	0.985000	0.35326	0.881000	0.34555	0.237000	0.25408	5.619000	0.67729	2.442000	0.82660	0.491000	0.48974	CGG		0.552	PCDHB15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251804.2	NM_018935		36	96	0	0	0	1	0	36	96					A	140625331	G	A	140625331	3	1	305	1	0	0	0	0	1	0	0	0	11540	1116	39	2	187	2	PCDHB15	5	140625331	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	35468	140625331	40289929	333	14850											
PCDHB15	56121	broad.mit.edu	37	chr5	140626377	140626378	+	Frame_Shift_Del	DEL	AG	AG	-																															taacagaaggggcgctggacAgagagaccagagccgagtac																										TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr5:140626377_140626378delAG	ENST00000231173.3	+	1	1231_1232	c.1231_1232delAG	c.(1231-1233)agafs	p.R411fs		NM_018935.2	NP_061758.1	Q9Y5E8	PCDBF_HUMAN	protocadherin beta 15	411	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|endometrium(8)|kidney(3)|large_intestine(14)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	61			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGCGCTGGACAGAGAGACCAGA	0.475																																						ENST00000231173.3																			0				NS(1)|breast(3)|endometrium(8)|kidney(3)|large_intestine(14)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	61						c.(1231-1233)afs																																						SO:0001589	frameshift_variant	0				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	g.chr5:140626377_140626378delAG	AF152494	CCDS4257.1	5q31	2011-06-07			ENSG00000113248	ENSG00000113248		"Cadherins / Protocadherins : Clustered"	8686	other	protocadherin		606341				10380929	Standard	NM_018935		Approved	PCDH-BETA15	uc003lje.3	Q9Y5E8	OTTHUMG00000129609	ENST00000231173.3:c.1231_1232delAG	5.37:g.140626381_140626382delAG	ENSP00000231173:p.Arg411fs						p.R411fs	NM_018935.2	NP_061758.1	Q9Y5E8	PCDBF_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1231_1232	+			411			Cadherin 4.		Q8IUX5	Frame_Shift_Del	DEL	ENST00000231173.3	37	c.1231_1232delAG	CCDS4257.1																																																																																				0.475	PCDHB15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251804.2	NM_018935		36	77						36	77	---	---	---	---	-	140626378	AG	-	140626377	7	5	305	1	0	1	0	1	0	0	0	0	11540	180	7	0	1233	0	PCDHB15	5	140626377	Frame_Shift_Del	DEL	AG	TCGA-KK-A59V-01A-11D-A29Q-08	1046	140626377	40288883	334	14851											
PCDHGA1	56114	broad.mit.edu	37	chr5	140712516	140712516	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcctgcagacctattcccaCgaggtctccctcactgcgga	7	10	8	16	2	2	1	1	0	1	1	5	3	4	2	4	2	2	1	4	2	1	3			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr5:140712516C>T	ENST00000517417.1	+	1	2265	c.2265C>T	c.(2263-2265)caC>caT	p.H755H	PCDHGA1_ENST00000378105.3_Silent_p.H755H	NM_018912.2	NP_061735.1	Q9Y5H4	PCDG1_HUMAN	protocadherin gamma subfamily A, 1	755					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|lung(32)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCTATTCCCACGAGGTCTCCC	0.607																																						ENST00000517417.1																			0				breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|lung(32)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	78						c.(2263-2265)caC>caT									78	84	82					5																	140712516		2203	4296	6499	SO:0001819	synonymous_variant	0							g.chr5:140712516C>T	AF152318	CCDS54922.1	5q31	2010-01-26				ENSG00000204956		"Cadherins / Protocadherins : Clustered"	8696	other	protocadherin		606288				10380929	Standard	NM_018912		Approved	PCDH-GAMMA-A1		Q9Y5H4		ENST00000517417.1:c.2265C>T	5.37:g.140712516C>T						PCDHGA1_ENST00000378105.3_Silent_p.H755H	p.H755H	NM_018912.2	NP_061735.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2265	+								Q2M273|Q9Y5D6	Silent	SNP	ENST00000517417.1	37	c.2265C>T	CCDS54922.1																																																																																				0.607	PCDHGA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000374737.1	NM_018912		64	157	0	0	0	1	0	64	157					T	140712516	C	T	140712516	2	4	305	1	0	0	0	0	0	0	0	1	11550	535	19	1		1	PCDHGA1	5	140712516	Silent	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	86139	140712516	40202744	335	14852											
PCDHGB3	56102	broad.mit.edu	37	chr5	140750489	140750489	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tactacctcagccctgatccGcacttctctttgattcagaa	9	13	5	14	1	3	3	2	2	1	1	5	3	4	3	3	0	3	1	3	0	3	5	rs563952977		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr5:140750489G>A	ENST00000576222.1	+	1	659	c.528G>A	c.(526-528)ccG>ccA	p.P176P	PCDHGA1_ENST00000517417.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA5_ENST00000518069.1_Intron	NM_018924.2|NM_032097.1	NP_061747.1|NP_115268.1	Q9Y5G1	PCDGF_HUMAN	protocadherin gamma subfamily B, 3	176	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCCCTGATCCGCACTTCTCTT	0.542													.|||	1	0.000199681	0	0	5008	,	,		20276	0		0	False		,,,				2504	0.001					ENST00000576222.1																			0				endometrium(1)|kidney(1)|lung(3)	5						c.(526-528)ccG>ccA									187	183	184					5																	140750489		2030	4198	6228	SO:0001819	synonymous_variant	0							g.chr5:140750489G>A	AF152519	CCDS58980.1, CCDS75334.1	5q31	2010-01-26						"Cadherins / Protocadherins : Clustered"	8710	other	protocadherin		606301				10380929	Standard	NM_018924		Approved	PCDH-GAMMA-B3		Q9Y5G1		ENST00000576222.1:c.528G>A	5.37:g.140750489G>A						PCDHGA4_ENST00000571252.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB2_ENST00000522605.1_Intron	p.P176P	NM_018924.2|NM_032097.1	NP_061747.1|NP_115268.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	659	+								A7E229|Q9Y5C7	Silent	SNP	ENST00000576222.1	37	c.528G>A	CCDS58980.1																																																																																				0.542	PCDHGB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437094.1	NM_018924		20	308	0	0	0	1	0	20	308					A	140750489	G	A	140750489	2	1	305	1	0	0	0	0	0	0	0	1	11564	1074	38	1		1	PCDHGB3	5	140750489	Silent	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	37973	140750489	40164771	336	14853											
PCDHGA6	56109	broad.mit.edu	37	chr5	140755586	140755586	+	Frame_Shift_Del	DEL	G	G	-																															agcagagcctagtggtggccGtccaggaccacggccagccc																										TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr5:140755586delG	ENST00000517434.1	+	1	1936	c.1936delG	c.(1936-1938)gtcfs	p.V646fs	PCDHGA1_ENST00000517417.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA5_ENST00000518069.1_Intron	NM_018919.2|NM_032086.1	NP_061742.1|NP_114475.1	Q9Y5G7	PCDG6_HUMAN	protocadherin gamma subfamily A, 6	646	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|large_intestine(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGTGGTGGCCGTCCAGGACCA	0.701																																						ENST00000517434.1																			0				breast(1)|large_intestine(1)	2						c.(1936-1938)tcfs									33	43	39					5																	140755586		2200	4294	6494	SO:0001589	frameshift_variant	0							g.chr5:140755586delG	AF152513	CCDS54926.1, CCDS75335.1	5q31	2010-01-26				ENSG00000253731		"Cadherins / Protocadherins : Clustered"	8704	other	protocadherin		606293				10380929	Standard	NM_018919		Approved	PCDH-GAMMA-A6		Q9Y5G7		ENST00000517434.1:c.1936delG	5.37:g.140755586delG	ENSP00000429601:p.Val646fs					PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron	p.V646fs	NM_018919.2|NM_032086.1	NP_061742.1|NP_114475.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1936	+								A6H8K7|B2RN55|Q9Y5D1	Frame_Shift_Del	DEL	ENST00000517434.1	37	c.1936delG	CCDS54926.1																																																																																				0.701	PCDHGA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374743.1	NM_018919		54	108						54	108	---	---	---	---	-	140755586	G	-	140755586	7	5	305	1	0	1	0	1	0	0	0	0	11558	1145	40	0	1938	0	PCDHGA6	5	140755586	Frame_Shift_Del	DEL	G	TCGA-KK-A59V-01A-11D-A29Q-08	5097	140755586	40159674	337	14854											
PCDHGA10	56106	broad.mit.edu	37	chr5	140792918	140792918	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccaaggacttgggtctggCgccccgggagctggcggagc	5	6	17	13	3	1	0	0	0	1	0	2	3	2	3	3	6	2	1	3	6	1	1			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr5:140792918C>T	ENST00000398610.2	+	1	176	c.176C>T	c.(175-177)gCg>gTg	p.A59V	PCDHGA9_ENST00000573521.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA3_ENST00000253812.6_Intron	NM_018913.2|NM_032090.1	NP_061736.1|NP_114479.1	Q9Y5H3	PCDGA_HUMAN	protocadherin gamma subfamily A, 10	59	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	43			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTGGGTCTGGCGCCCCGGGAG	0.607																																						ENST00000398610.2																			0				breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						c.(175-177)gCg>gTg									56	69	65					5																	140792918		2057	4235	6292	SO:0001583	missense	0							g.chr5:140792918C>T		CCDS47292.1, CCDS75343.1	5q31	2010-01-26			ENSG00000253846	ENSG00000253846		"Cadherins / Protocadherins : Clustered"	8697	other	protocadherin		606297				10380929	Standard	NM_018913		Approved	PCDH-GAMMA-A10		Q9Y5H3	OTTHUMG00000163688	ENST00000398610.2:c.176C>T	5.37:g.140792918C>T	ENSP00000381611:p.Ala59Val					PCDHGA4_ENST00000571252.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA9_ENST00000573521.1_Intron	p.A59V	NM_018913.2|NM_032090.1	NP_061736.1|NP_114479.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	176	+								Q9Y5E0	Missense_Mutation	SNP	ENST00000398610.2	37	c.176C>T	CCDS47292.1	.	.	.	.	.	.	.	.	.	.	c	10.56	1.383806	0.25031	.	.	ENSG00000253846	ENST00000398610	T	0.27720	1.65	5.62	3.23	0.37069	Cadherin, N-terminal (1);Cadherin (2);Cadherin-like (1);	.	.	.	.	T	0.28167	0.0695	N	0.25485	0.75	0.23023	N	0.99842	B;B	0.31989	0.301;0.35	B;B	0.38655	0.119;0.278	T	0.26430	-1.0103	9	0.72032	D	0.01	.	12.9178	0.58214	0.7997:0.2003:0.0:0.0	.	59;59	Q9Y5H3-2;Q9Y5H3	.;PCDGA_HUMAN	V	59	ENSP00000381611:A59V	ENSP00000381611:A59V	A	+	2	0	PCDHGA10	140773102	0.998000	0.40836	0.998000	0.56505	0.111000	0.19643	3.062000	0.49971	0.410000	0.25675	-0.321000	0.08615	GCG		0.607	PCDHGA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374747.1	NM_018913		7	182	0	0	0	1	0	7	182					T	140792918	C	T	140792918	3	4	305	1	0	0	0	0	1	0	0	0	11551	768	27	1	178	1	PCDHGA10	5	140792918	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	37332	140792918	40122342	338	14855											
PCDHGC5	56097	broad.mit.edu	37	chr5	140871074	140871074	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaggtgagctcggacggcaCgctcaagtacatggaggtga	10	6	16	9	3	1	2	1	2	0	0	2	4	1	4	0	5	2	5	0	5	2	1			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr5:140871074C>T	ENST00000252087.1	+	1	2267	c.2267C>T	c.(2266-2268)aCg>aTg	p.T756M	PCDHGA10_ENST00000398610.2_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGC3_ENST00000308177.3_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGC4_ENST00000306593.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA3_ENST00000253812.6_Intron	NM_018929.2|NM_032403.2|NM_032407.1	NP_061752.1|NP_115779.1|NP_115783.1	Q9Y5F6	PCDGM_HUMAN	protocadherin gamma subfamily C, 5	756					homophilic cell adhesion (GO:0007156)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCGGACGGCACGCTCAAGTAC	0.637																																						ENST00000252087.1																			0				breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35						c.(2266-2268)aCg>aTg									44	43	44					5																	140871074		2203	4300	6503	SO:0001583	missense	0				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140871074C>T	AF152526	CCDS4263.1, CCDS75350.1	5q31	2010-01-26			ENSG00000240764	ENSG00000240764		"Cadherins / Protocadherins : Clustered"	8718	other	protocadherin		606306				10380929	Standard	NM_018929		Approved	PCDH-GAMMA-C5	uc003lla.2	Q9Y5F6	OTTHUMG00000129624	ENST00000252087.1:c.2267C>T	5.37:g.140871074C>T	ENSP00000252087:p.Thr756Met					PCDHGA4_ENST00000571252.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGC3_ENST00000308177.3_Intron|PCDHGC4_ENST00000306593.1_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA9_ENST00000573521.1_Intron	p.T756M	NM_018929.2|NM_032403.2|NM_032407.1	NP_061752.1|NP_115779.1|NP_115783.1	Q9Y5F6	PCDGM_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2267	+			756					Q9Y5C2	Missense_Mutation	SNP	ENST00000252087.1	37	c.2267C>T	CCDS4263.1	.	.	.	.	.	.	.	.	.	.	C	19.06	3.754093	0.69648	.	.	ENSG00000240764	ENST00000252087	T	0.51325	0.71	5.6	5.6	0.85130	.	0.000000	0.51477	D	0.000090	T	0.63640	0.2528	L	0.61218	1.895	0.38722	D	0.953466	D;D	0.89917	1.0;1.0	D;D	0.80764	0.994;0.964	T	0.62572	-0.6826	10	0.31617	T	0.26	.	13.3138	0.60394	0.0:0.9178:0.0:0.0822	.	756;756	Q9Y5F6-2;Q9Y5F6	.;PCDGM_HUMAN	M	756	ENSP00000252087:T756M	ENSP00000252087:T756M	T	+	2	0	PCDHGC5	140851258	0.937000	0.31787	0.989000	0.46669	0.964000	0.63967	2.229000	0.42990	2.637000	0.89404	0.561000	0.74099	ACG		0.637	PCDHGC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251819.1	NM_018929		5	76	0	0	0	1	0	5	76					T	140871074	C	T	140871074	3	4	305	1	0	0	0	0	1	0	0	0	11571	536	19	1	2269	1	PCDHGC5	5	140871074	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	78156	140871074	40044186	339	14856											
HTR4	3360	broad.mit.edu	37	chr5	147889133	147889133	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaggatgatgaggaaggcaCgtctaaaagacttattcaag	16	8	12	5	1	2	4	1	2	1	2	2	6	2	6	0	3	0	1	0	3	5	3	rs199912477		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr5:147889133C>T	ENST00000377888.3	-	6	1100	c.962G>A	c.(961-963)cGt>cAt	p.R321H	HTR4_ENST00000521530.1_Missense_Mutation_p.R321H|HTR4_ENST00000314512.6_Missense_Mutation_p.R321H|HTR4_ENST00000517929.1_Missense_Mutation_p.R321H|HTR4_ENST00000354217.2_Missense_Mutation_p.R321H|HTR4_ENST00000362016.2_Missense_Mutation_p.R335H|HTR4_ENST00000360693.3_Missense_Mutation_p.R321H|HTR4_ENST00000520514.1_Missense_Mutation_p.R321H|HTR4_ENST00000521735.1_Missense_Mutation_p.R321H	NM_000870.5	NP_000861.1	Q13639	5HT4R_HUMAN	5-hydroxytryptamine (serotonin) receptor 4, G protein-coupled	321					G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|positive regulation of cell proliferation (GO:0008284)|regulation of appetite (GO:0032098)|serotonin receptor signaling pathway (GO:0007210)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	serotonin receptor activity (GO:0004993)			endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Cinitapride(DB08810)|Cisapride(DB00604)|Ergoloid mesylate(DB01049)|Metoclopramide(DB01233)|Ondansetron(DB00904)	GAGGAAGGCACGTCTAAAAGA	0.502																																					GBM(120;370 1604 14007 17804 41573)	ENST00000360693.3																			0				endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(961-963)cGt>cAt		5-hydroxytryptamine (serotonin) receptor 4, G protein-coupled	Cisapride(DB00604)|Rizatriptan(DB00953)|Tegaserod(DB01079)|Zolmitriptan(DB00315)						109	100	103					5																	147889133		2203	4300	6503	SO:0001583	missense	3360				G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cell proliferation	endosome|integral to plasma membrane|membrane fraction	serotonin receptor activity	g.chr5:147889133C>T	Y08756	CCDS4291.1, CCDS34270.1, CCDS34271.1, CCDS34272.1, CCDS34273.1, CCDS34273.2, CCDS75353.1	5q31-q33	2012-08-08	2012-02-03		ENSG00000164270	ENSG00000164270		"5-HT (serotonin) receptors", "GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"	5299	protein-coding gene	gene with protein product		602164	"5-hydroxytryptamine (serotonin) receptor 4"			9371406, 9276448	Standard	NM_199453		Approved	5-HT4	uc021yfj.1	Q13639	OTTHUMG00000129931	ENST00000377888.3:c.962G>A	5.37:g.147889133C>T	ENSP00000367120:p.Arg321His					HTR4_ENST00000314512.6_Missense_Mutation_p.R321H|HTR4_ENST00000362016.2_Missense_Mutation_p.R335H|HTR4_ENST00000521530.1_Missense_Mutation_p.R321H|HTR4_ENST00000521735.1_Missense_Mutation_p.R321H|HTR4_ENST00000354217.2_Missense_Mutation_p.R321H|HTR4_ENST00000517929.1_Missense_Mutation_p.R321H|HTR4_ENST00000520514.1_Missense_Mutation_p.R321H|HTR4_ENST00000377888.3_Missense_Mutation_p.R321H	p.R321H	NM_001040173.2	NP_001035263.1	Q13639	5HT4R_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		6	1100	-			321					C4WYH4|Q546Q1|Q684M0|Q712M9|Q96KH9|Q96KI0|Q9H199|Q9NY73|Q9UBM6|Q9UBT4|Q9UE22|Q9UE23|Q9UQR6	Missense_Mutation	SNP	ENST00000377888.3	37	c.962G>A	CCDS4291.1	.	.	.	.	.	.	.	.	.	.	C	15.38	2.816285	0.50527	.	.	ENSG00000164270	ENST00000521530;ENST00000354217;ENST00000314512;ENST00000521735;ENST00000517929;ENST00000520514;ENST00000377888;ENST00000360693;ENST00000362016	T;T;T;T;T;T;T;T;T	0.39592	1.07;1.07;1.07;1.07;1.07;1.07;1.07;1.07;1.07	5.92	4.14	0.48551	.	0.087749	0.85682	D	0.000000	T	0.55097	0.1899	M	0.66939	2.045	0.53005	D	0.999966	D;D;D;D;D;D;D	0.71674	0.995;0.995;0.991;0.995;0.998;0.997;0.997	P;P;P;P;P;P;P	0.58331	0.629;0.629;0.691;0.837;0.795;0.795;0.629	T	0.57452	-0.7809	10	0.87932	D	0	.	10.3718	0.44058	0.1343:0.7954:0.0:0.0703	.	321;321;321;335;321;321;321	C4WYH4;Q13639;Q712M9;Q13639-6;Q13639-3;Q13639-2;Q684M0	.;5HT4R_HUMAN;.;.;.;.;.	H	321;321;321;321;321;321;321;321;335	ENSP00000428320:R321H;ENSP00000346156:R321H;ENSP00000314906:R321H;ENSP00000430979:R321H;ENSP00000435904:R321H;ENSP00000427913:R321H;ENSP00000367120:R321H;ENSP00000353915:R321H;ENSP00000355037:R335H	ENSP00000314906:R321H	R	-	2	0	HTR4	147869326	1.000000	0.71417	1.000000	0.80357	0.204000	0.24138	6.087000	0.71362	0.834000	0.34852	-0.182000	0.12963	CGT		0.502	HTR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252187.2	NM_000870		20	54	0	0	0	1	0	20	54					T	147889133	C	T	147889133	3	4	305	1	0	0	0	0	1	0	0	0	7449	536	19	1	508	1	HTR4	5	147889133	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	7018059	147889133	33026127	340	14857											
IL17B	27190	broad.mit.edu	37	chr5	148756445	148756445	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tactcctccatgcgggcataCggtttcatccgtgacaccag	8	10	9	14	3	1	1	1	1	0	0	4	1	4	1	4	2	3	2	4	2	2	3	rs376026730		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr5:148756445C>T	ENST00000261796.3	-	2	215	c.165G>A	c.(163-165)ccG>ccA	p.P55P	IL17B_ENST00000505432.1_5'UTR|RP11-394O4.3_ENST00000521756.1_RNA	NM_014443.2	NP_055258.1	Q9UHF5	IL17B_HUMAN	interleukin 17B	55					cell-cell signaling (GO:0007267)|immune response (GO:0006955)|inflammatory response (GO:0006954)|positive regulation of cytokine production involved in inflammatory response (GO:1900017)	extracellular space (GO:0005615)	cytokine activity (GO:0005125)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|prostate(1)|urinary_tract(1)	8			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGCGGGCATACGGTTTCATCC	0.622													C|||	1	0.000199681	0	0	5008	,	,		20185	0		0	False		,,,				2504	0.001					ENST00000261796.3																			0				breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|prostate(1)|urinary_tract(1)	8						c.(163-165)ccG>ccA		interleukin 17B		C		0,4406		0,0,2203	105	99	101		165	-9.9	0	5		101	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	IL17B	NM_014443.2		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		55/181	148756445	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	27190				cell-cell signaling|immune response|inflammatory response	extracellular space	cytokine activity|signal transducer activity	g.chr5:148756445C>T	AF184969	CCDS4297.1	5q33.1	2011-07-14			ENSG00000127743	ENSG00000127743		"Interleukins and interleukin receptors"	5982	protein-coding gene	gene with protein product	"neuronal interleukin-17-related factor"	604627				10639155	Standard	NM_014443		Approved	IL-17B, ZCYTO7, IL-20, MGC138900, MGC138901, NIRF	uc003lqo.3	Q9UHF5	OTTHUMG00000130051	ENST00000261796.3:c.165G>A	5.37:g.148756445C>T						IL17B_ENST00000505432.1_5'UTR	p.P55P	NM_014443.2	NP_055258.1	Q9UHF5	IL17B_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		2	215	-			55					Q14CE5	Silent	SNP	ENST00000261796.3	37	c.165G>A	CCDS4297.1																																																																																				0.622	IL17B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252330.1	NM_014443		38	97	0	0	0	1	0	38	97					T	148756445	C	T	148756445	2	4	305	1	0	0	0	0	0	0	0	1	7635	523	19	1		1	IL17B	5	148756445	Silent	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	867312	148756445	32158815	341	14858											
SAP30L	79685	broad.mit.edu	37	chr5	153830731	153830731	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggaagaggaagacaagtgaCgatggcggagattctcccga	14	5	15	7	3	1	4	0	1	1	3	2	9	1	6	1	4	0	0	1	4	3	1			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr5:153830731C>T	ENST00000297109.6	+	2	930	c.282C>T	c.(280-282)gaC>gaT	p.D94D	SAP30L_ENST00000426761.2_Intron|SAP30L_ENST00000523198.1_3'UTR|SAP30L_ENST00000440364.2_Intron	NM_024632.5	NP_078908.1	Q9HAJ7	SP30L_HUMAN	SAP30-like	94					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|lung(3)	4	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	Kidney(363;8.21e-05)|KIRC - Kidney renal clear cell carcinoma(527;0.000577)			AGACAAGTGACGATGGCGGAG	0.423																																						ENST00000297109.6																			0				breast(1)|lung(3)	4						c.(280-282)gaC>gaT		SAP30-like							76	75	75					5																	153830731		2203	4300	6503	SO:0001819	synonymous_variant	79685				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|metal ion binding	g.chr5:153830731C>T	AY341060	CCDS4326.1, CCDS47321.1, CCDS47322.1	5q33.2	2008-02-05			ENSG00000164576	ENSG00000164576			25663	protein-coding gene	gene with protein product		610398				14680513	Standard	NM_001131062		Approved	FLJ11526, NS4ATP2	uc003lvk.3	Q9HAJ7	OTTHUMG00000130146	ENST00000297109.6:c.282C>T	5.37:g.153830731C>T						SAP30L_ENST00000440364.2_Intron|SAP30L_ENST00000426761.2_Intron|SAP30L_ENST00000523198.1_3'UTR	p.D94D	NM_024632.5	NP_078908.1	Q9HAJ7	SP30L_HUMAN	Kidney(363;8.21e-05)|KIRC - Kidney renal clear cell carcinoma(527;0.000577)		2	930	+	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	94					E9PAU7|E9PAY2	Silent	SNP	ENST00000297109.6	37	c.282C>T	CCDS4326.1																																																																																				0.423	SAP30L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252454.3	NM_024632		12	34	0	0	0	1	0	12	34					T	153830731	C	T	153830731	2	4	305	1	0	0	0	0	0	0	0	1	13835	535	19	1		1	SAP30L	5	153830731	Silent	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	5074286	153830731	27084529	342	14859											
CYFIP2	26999	broad.mit.edu	37	chr5	156741353	156741353	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacacctgatgctccccaggTggtgacgggctcagggctgg	6	7	16	12	1	1	2	1	2	0	0	2	3	2	2	3	5	1	3	3	5	0	0			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr5:156741353T>C	ENST00000521420.1	+	11	1125	c.1034T>C	c.(1033-1035)gTg>gCg	p.V345A	CYFIP2_ENST00000377576.3_Splice_Site_p.V371A|CYFIP2_ENST00000347377.6_Splice_Site_p.V371A|CYFIP2_ENST00000442283.2_5'UTR|CYFIP2_ENST00000541131.1_Splice_Site_p.V296A|CYFIP2_ENST00000318218.6_Splice_Site_p.V371A|CYFIP2_ENST00000435847.2_Splice_Site_p.V45A|CYFIP2_ENST00000522463.1_Splice_Site_p.V175A					cytoplasmic FMR1 interacting protein 2											breast(1)|endometrium(12)|kidney(2)|lung(23)	38	Renal(175;0.00212)	Medulloblastoma(196;0.0306)|all_neural(177;0.0897)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GCTCCCCAGGTGGTGACGGGC	0.532																																						ENST00000347377.6																			0				breast(1)|endometrium(12)|kidney(2)|lung(23)	38						c.e12-1		cytoplasmic FMR1 interacting protein 2							71	75	74					5																	156741353		2035	4197	6232	SO:0001630	splice_region_variant	26999				apoptosis|cell-cell adhesion	cell junction|perinuclear region of cytoplasm|synapse|synaptosome	protein binding	g.chr5:156741353T>C	AF160973	CCDS75364.1	5q34	2008-07-18				ENSG00000055163			13760	protein-coding gene	gene with protein product	"p53 inducible protein"	606323				11438699	Standard	NM_001037333		Approved	PIR121	uc021ygm.1	Q96F07		ENST00000521420.1:c.1033-1T>C	5.37:g.156741353T>C						CYFIP2_ENST00000521420.1_Splice_Site_p.V345_splice|CYFIP2_ENST00000377576.3_Splice_Site_p.V371_splice|CYFIP2_ENST00000442283.2_5'UTR|CYFIP2_ENST00000435847.2_Splice_Site_p.V45_splice|CYFIP2_ENST00000318218.6_Splice_Site_p.V371_splice|CYFIP2_ENST00000541131.1_Splice_Site_p.V296_splice|CYFIP2_ENST00000522463.1_Splice_Site_p.V175_splice	p.V371_splice	NM_001037332.2	NP_001032409.2	Q96F07	CYFP2_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		12	1543	+	Renal(175;0.00212)	Medulloblastoma(196;0.0306)|all_neural(177;0.0897)	371						Splice_Site	SNP	ENST00000521420.1	37	c.1110_splice		.	.	.	.	.	.	.	.	.	.	T	17.78	3.474106	0.63737	.	.	ENSG00000055163	ENST00000318218;ENST00000522463;ENST00000521420;ENST00000347377;ENST00000377576;ENST00000541131;ENST00000435847	T;T;T;T;T;T;T	0.24350	2.22;2.19;2.18;2.19;2.19;2.19;1.86	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	T	0.33527	0.0866	L	0.47716	1.5	0.80722	D	1	B;B;B;D;B;P	0.60575	0.209;0.11;0.326;0.988;0.013;0.518	B;B;B;P;B;P	0.54759	0.222;0.109;0.105;0.76;0.009;0.481	T	0.06127	-1.0844	10	0.07325	T	0.83	-30.6213	16.0209	0.80493	0.0:0.0:0.0:1.0	.	235;175;345;371;371;371	A8MUM2;E7EW33;E7EVJ5;E7EVF4;Q96F07-2;Q96F07	.;.;.;.;.;CYFP2_HUMAN	A	371;175;345;371;371;296;45	ENSP00000325817:V371A;ENSP00000428009:V175A;ENSP00000430904:V345A;ENSP00000313567:V371A;ENSP00000366799:V371A;ENSP00000444645:V296A;ENSP00000403793:V45A	ENSP00000325817:V371A	V	+	2	0	CYFIP2	156673931	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	7.948000	0.87774	2.186000	0.69663	0.459000	0.35465	GTG		0.532	CYFIP2-001	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000373710.1	NM_001037332	Missense_Mutation	6	71	0	0	0	1	0	6	71					C	156741353	T	C	156741353	5	2	305	1	0	0	0	0	0	0	1	0	4138	1710	59	4	1154	4	CYFIP2	5	156741353	Splice_Site	SNP	T	TCGA-KK-A59V-01A-11D-A29Q-08	2910622	156741353	24173907	343	14860											
ADAM19	8728	broad.mit.edu	37	chr5	156957868	156957868	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gacagttctgtctccctcacCgtgccgtggtaaaagcagtg	8	10	11	12	2	3	0	1	0	2	0	4	1	3	0	3	1	2	3	3	1	2	2	rs141005435	byFrequency	TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr5:156957868C>T	ENST00000517905.1	-	5	398	c.354G>A	c.(352-354)acG>acA	p.T118T	ADAM19_ENST00000257527.4_Silent_p.T118T|ADAM19_ENST00000430702.2_5'UTR|ADAM19_ENST00000394020.1_Silent_p.T120T			Q9H013	ADA19_HUMAN	ADAM metallopeptidase domain 19	118					heart development (GO:0007507)|membrane protein ectodomain proteolysis (GO:0006509)	integral component of membrane (GO:0016021)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53	Renal(175;0.00488)	Medulloblastoma(196;0.0359)|all_neural(177;0.14)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TCTCCCTCACCGTGCCGTGGT	0.537																																						ENST00000257527.4																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53						c.(352-354)acG>acA		ADAM metallopeptidase domain 19		C		2,4404	4.2+/-10.8	0,2,2201	121	96	104		354	-2.1	0.1	5	dbSNP_134	104	0,8600		0,0,4300	no	coding-synonymous	ADAM19	NM_033274.3		0,2,6501	TT,TC,CC		0.0,0.0454,0.0154		118/919	156957868	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	8728				proteolysis	integral to membrane	metalloendopeptidase activity|SH3 domain binding|zinc ion binding	g.chr5:156957868C>T	AF311317	CCDS4338.1	5q33.3	2010-06-24	2010-06-24		ENSG00000135074	ENSG00000135074		"ADAM metallopeptidase domain containing"	197	protein-coding gene	gene with protein product	"meltrin beta"	603640	"a disintegrin and metalloproteinase domain 19 (meltrin beta)"			9806848	Standard	NM_033274		Approved	MLTNB	uc003lwz.4	Q9H013	OTTHUMG00000130242	ENST00000517905.1:c.354G>A	5.37:g.156957868C>T						ADAM19_ENST00000394020.1_Silent_p.T120T|ADAM19_ENST00000517905.1_Silent_p.T118T|ADAM19_ENST00000430702.2_5'UTR	p.T118T	NM_033274.3	NP_150377.1	Q9H013	ADA19_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		5	432	-	Renal(175;0.00488)	Medulloblastoma(196;0.0359)|all_neural(177;0.14)	118					Q9BZL5|Q9UHP2	Silent	SNP	ENST00000517905.1	37	c.354G>A																																																																																					0.537	ADAM19-003	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000373918.1	NM_033274		12	55	0	0	0	1	0	12	55					T	156957868	C	T	156957868	2	4	305	1	0	0	0	0	0	0	0	1	240	639	23	2		2	ADAM19	5	156957868	Silent	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	216515	156957868	23957392	344	14861											
RANBP17	64901	broad.mit.edu	37	chr5	170669733	170669733	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tatccactcctggaatgtctCactcaggaccatatgagctt	10	12	7	12	0	2	1	2	1	1	0	5	3	4	3	3	2	1	1	3	2	3	3			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr5:170669733C>T	ENST00000523189.1	+	24	2849	c.2685C>T	c.(2683-2685)ctC>ctT	p.L895L	RANBP17_ENST00000521759.1_3'UTR	NM_022897.3	NP_075048.1	Q9H2T7	RBP17_HUMAN	RAN binding protein 17	895					mRNA transport (GO:0051028)|protein import into nucleus (GO:0006606)	cytoplasm (GO:0005737)|nuclear pore (GO:0005643)	GTP binding (GO:0005525)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	50	Renal(175;0.000159)|Lung NSC(126;0.00751)|all_lung(126;0.0123)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			TGGAATGTCTCACTCAGGACC	0.418			T	TRD@	ALL																																	ENST00000523189.1				Dom	yes		5	5q34	64901	T	RAN binding protein 17			L	TRD@		ALL		0				breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	50						c.(2683-2685)ctC>ctT		RAN binding protein 17							190	169	176					5																	170669733		2203	4300	6503	SO:0001819	synonymous_variant	64901				mRNA transport|protein import into nucleus|transmembrane transport	cytoplasm|nuclear pore	GTP binding|protein transporter activity	g.chr5:170669733C>T	AF222747	CCDS34287.1	5q34	2009-01-12			ENSG00000204764	ENSG00000204764			14428	protein-coding gene	gene with protein product		606141				11024021	Standard	NM_022897		Approved		uc003mba.3	Q9H2T7	OTTHUMG00000163203	ENST00000523189.1:c.2685C>T	5.37:g.170669733C>T						RANBP17_ENST00000521759.1_3'UTR	p.L895L	NM_022897.3	NP_075048.1	Q9H2T7	RBP17_HUMAN	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)		24	2849	+	Renal(175;0.000159)|Lung NSC(126;0.00751)|all_lung(126;0.0123)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	895					Q8IU74	Silent	SNP	ENST00000523189.1	37	c.2685C>T	CCDS34287.1																																																																																				0.418	RANBP17-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000372036.1	NM_022897		36	95	0	0	0	1	0	36	95					T	170669733	C	T	170669733	2	4	305	1	0	0	0	0	0	0	0	1	13027	813	29	3		3	RANBP17	5	170669733	Silent	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	13711865	170669733	10245527	345	14862											
RANBP17	64901	broad.mit.edu	37	chr5	170725811	170725811	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agaagagatgtggcagaggcGttgcgcagtgatggcaacac	12	6	16	7	2	0	4	0	1	0	3	0	5	0	4	0	3	2	4	0	3	2	1	rs148315082		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr5:170725811G>A	ENST00000523189.1	+	28	3380	c.3216G>A	c.(3214-3216)gcG>gcA	p.A1072A	RANBP17_ENST00000521759.1_3'UTR	NM_022897.3	NP_075048.1	Q9H2T7	RBP17_HUMAN	RAN binding protein 17	1072					mRNA transport (GO:0051028)|protein import into nucleus (GO:0006606)	cytoplasm (GO:0005737)|nuclear pore (GO:0005643)	GTP binding (GO:0005525)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	50	Renal(175;0.000159)|Lung NSC(126;0.00751)|all_lung(126;0.0123)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			TGGCAGAGGCGTTGCGCAGTG	0.498			T	TRD@	ALL																																	ENST00000523189.1				Dom	yes		5	5q34	64901	T	RAN binding protein 17			L	TRD@		ALL		0				breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	50						c.(3214-3216)gcG>gcA		RAN binding protein 17		G		1,4405	2.1+/-5.4	0,1,2202	129	110	116		3216	2	0.7	5	dbSNP_134	116	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	RANBP17	NM_022897.3		0,3,6500	AA,AG,GG		0.0233,0.0227,0.0231		1072/1089	170725811	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	64901				mRNA transport|protein import into nucleus|transmembrane transport	cytoplasm|nuclear pore	GTP binding|protein transporter activity	g.chr5:170725811G>A	AF222747	CCDS34287.1	5q34	2009-01-12			ENSG00000204764	ENSG00000204764			14428	protein-coding gene	gene with protein product		606141				11024021	Standard	NM_022897		Approved		uc003mba.3	Q9H2T7	OTTHUMG00000163203	ENST00000523189.1:c.3216G>A	5.37:g.170725811G>A						RANBP17_ENST00000521759.1_3'UTR	p.A1072A	NM_022897.3	NP_075048.1	Q9H2T7	RBP17_HUMAN	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)		28	3380	+	Renal(175;0.000159)|Lung NSC(126;0.00751)|all_lung(126;0.0123)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	1072					Q8IU74	Silent	SNP	ENST00000523189.1	37	c.3216G>A	CCDS34287.1																																																																																				0.498	RANBP17-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000372036.1	NM_022897		9	33	0	0	0	1	0	9	33					A	170725811	G	A	170725811	2	1	305	1	0	0	0	0	0	0	0	1	13027	1132	40	1		1	RANBP17	5	170725811	Silent	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	56078	170725811	10189449	346	14863											
CDHR2	54825	broad.mit.edu	37	chr5	176011599	176011599	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggattacgagacacagcccGtcttcaacttgacagtgagt	11	10	10	10	2	2	3	1	2	1	1	2	5	2	4	1	1	3	0	1	1	2	3	rs114267729	byFrequency	TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr5:176011599G>A	ENST00000510636.1	+	19	2591	c.2317G>A	c.(2317-2319)Gtc>Atc	p.V773I	CDHR2_ENST00000261944.5_Missense_Mutation_p.V773I|CDHR2_ENST00000506348.1_Missense_Mutation_p.V773I	NM_001171976.1	NP_001165447.1	Q9BYE9	CDHR2_HUMAN	cadherin-related family member 2	773	Cadherin 7. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|negative regulation of cell growth (GO:0030308)	cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1)	56						GACACAGCCCGTCTTCAACTT	0.597													G|||	2	0.000399361	0	0	5008	,	,		19728	0		0.001	False		,,,				2504	0.001					ENST00000510636.1																			0				breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1)	56						c.(2317-2319)Gtc>Atc		cadherin-related family member 2		G	ILE/VAL,ILE/VAL	3,4403	6.2+/-15.9	0,3,2200	64	67	66		2317,2317	-9.3	0	5	dbSNP_132	66	0,8600		0,0,4300	yes	missense,missense	CDHR2	NM_001171976.1,NM_017675.4	29,29	0,3,6500	AA,AG,GG		0.0,0.0681,0.0231	benign,benign	773/1311,773/1311	176011599	3,13003	2203	4300	6503	SO:0001583	missense	54825				homophilic cell adhesion|negative regulation of cell growth	apical plasma membrane|cell junction|integral to membrane	calcium ion binding|protein binding	g.chr5:176011599G>A	AB047004	CCDS34297.1	5q35.2	2011-07-01	2010-01-25	2010-01-25		ENSG00000074276		"Cadherins / Cadherin-related"	18231	protein-coding gene	gene with protein product	"protocadherin LKC"		"protocadherin 24"	PCDH24		11082270, 12117771	Standard	NM_001171976		Approved	PC-LKC, FLJ20124, FLJ20383, PCLKC	uc003mem.2	Q9BYE9		ENST00000510636.1:c.2317G>A	5.37:g.176011599G>A	ENSP00000424565:p.Val773Ile					CDHR2_ENST00000261944.5_Missense_Mutation_p.V773I|CDHR2_ENST00000506348.1_Missense_Mutation_p.V773I	p.V773I	NM_001171976.1	NP_001165447.1	Q9BYE9	CDHR2_HUMAN			19	2591	+			773			Cadherin 7.		A1L3U4|A6NC80|Q9NXP8	Missense_Mutation	SNP	ENST00000510636.1	37	c.2317G>A	CCDS34297.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	G	2.767	-0.256571	0.05829	6.81E-4	0.0	ENSG00000074276	ENST00000510636;ENST00000261944;ENST00000506348	T;T;T	0.50548	0.74;0.74;0.74	5.12	-9.28	0.00656	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.18045	0.0433	N	0.16790	0.44	0.09310	N	1	B	0.33345	0.409	B	0.30782	0.12	T	0.19811	-1.0294	9	0.17832	T	0.49	-0.0978	0.7264	0.00949	0.2951:0.1268:0.268:0.3102	.	773	Q9BYE9	CDHR2_HUMAN	I	773	ENSP00000424565:V773I;ENSP00000261944:V773I;ENSP00000421078:V773I	ENSP00000261944:V773I	V	+	1	0	CDHR2	175944205	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.860000	0.04272	-1.055000	0.03209	-0.425000	0.05940	GTC		0.597	CDHR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372201.1	NM_017675		44	95	0	0	0	1	0	44	95					A	176011599	G	A	176011599	3	1	305	1	0	0	0	0	1	0	0	0	3119	1145	40	1	2387	1	CDHR2	5	176011599	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	5285788	176011599	4903661	347	14864											
NSD1	64324	broad.mit.edu	37	chr5	176638166	176638166	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gatatgcatgatagtaagacGaaggagcagcggttgatgac	14	8	14	5	2	0	4	0	3	0	1	0	7	0	5	0	2	3	4	0	2	4	4	rs369705297		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr5:176638166G>A	ENST00000439151.2	+	5	2811	c.2766G>A	c.(2764-2766)acG>acA	p.T922T	NSD1_ENST00000354179.4_Silent_p.T653T|NSD1_ENST00000361032.4_Silent_p.T819T|NSD1_ENST00000347982.4_Silent_p.T653T	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	922					gastrulation with mouth forming second (GO:0001702)|histone H3-K36 methylation (GO:0010452)|histone H4-K20 methylation (GO:0034770)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|estrogen receptor binding (GO:0030331)|histone methyltransferase activity (H3-K36 specific) (GO:0046975)|histone methyltransferase activity (H4-K20 specific) (GO:0042799)|retinoic acid receptor binding (GO:0042974)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription cofactor activity (GO:0003712)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		ATAGTAAGACGAAGGAGCAGC	0.423			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)																												ENST00000439151.2				Dom	yes		5	5q35	64324	T	nuclear receptor binding SET domain protein 1	yes	Sotos Syndrome	L	NUP98		AML		0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96						c.(2764-2766)acG>acA		nuclear receptor binding SET domain protein 1		G	,	0,4406		0,0,2203	99	93	95		2766,1959	-4.7	0.9	5		95	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	NSD1	NM_022455.4,NM_172349.2	,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,	922/2697,653/2428	176638166	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	64324	Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	Familial Cancer Database	Weaver-Smith syndrome;Cerebral Gigantism;BWS, Exomphalos-Macroglossia-Gigantism (EMG) syndrome, Wiedemann-Beckwith syndrome, WBS	negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding	g.chr5:176638166G>A	AK026066	CCDS4412.1, CCDS4413.1	5q35	2014-09-17	2003-03-12		ENSG00000165671	ENSG00000165671		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	14234	protein-coding gene	gene with protein product		606681	"Sotos syndrome"	STO		9628876, 11896389	Standard	NM_022455		Approved	ARA267, FLJ22263, KMT3B	uc003mfr.4	Q96L73	OTTHUMG00000130846	ENST00000439151.2:c.2766G>A	5.37:g.176638166G>A		HNSCC(47;0.14)				NSD1_ENST00000347982.4_Silent_p.T653T|NSD1_ENST00000361032.4_Silent_p.T819T|NSD1_ENST00000354179.4_Silent_p.T653T	p.T922T	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)	5	2811	+	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	922					Q96PD8|Q96RN7	Silent	SNP	ENST00000439151.2	37	c.2766G>A	CCDS4412.1																																																																																				0.423	NSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253412.2	NM_172349		10	59	0	0	0	1	0	10	59					A	176638166	G	A	176638166	2	1	305	1	0	0	0	0	0	0	0	1	10669	1045	37	2		2	NSD1	5	176638166	Silent	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	626567	176638166	4277094	348	14865											
AGXT2L2	85007	broad.mit.edu	37	chr5	177651532	177651532	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgggttggggtggtcctcccGgtaggggccccggtaggtgt	2	10	20	9	2	0	0	0	0	0	0	2	0	2	0	4	9	0	3	4	9	2	3	rs573140258	byFrequency	TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr5:177651532G>A	ENST00000308158.5	-	6	769	c.535C>T	c.(535-537)Cgg>Tgg	p.R179W	PHYKPL_ENST00000481811.1_Intron	NM_153373.2	NP_699204.1	Q8IUZ5	AT2L2_HUMAN	5-phosphohydroxy-L-lysine phospho-lyase	179						mitochondrion (GO:0005739)	lyase activity (GO:0016829)|pyridoxal phosphate binding (GO:0030170)|transaminase activity (GO:0008483)									L-Alanine(DB00160)	TGGTCCTCCCGGTAGGGGCCC	0.632													G|||	2	0.000399361	0	0	5008	,	,		19327	0		0	False		,,,				2504	0.002					ENST00000308158.5																			0											c.(535-537)Cgg>Tgg		5-phosphohydroxy-L-lysine phospho-lyase							88	83	85					5																	177651532		2203	4300	6503	SO:0001583	missense	85007							g.chr5:177651532G>A	BC037567	CCDS4434.1	5q35.3	2013-06-12	2013-06-12	2013-06-12	ENSG00000175309	ENSG00000175309	4.2.3.134		28249	protein-coding gene	gene with protein product	"5-phosphonooxy-L-lysine phospho-lyase"	614683	"alanine-glyoxylate aminotransferase 2-like 2"	AGXT2L2		22241472	Standard	NM_153373		Approved	MGC15875	uc003miz.3	Q8IUZ5	OTTHUMG00000130892	ENST00000308158.5:c.535C>T	5.37:g.177651532G>A	ENSP00000310978:p.Arg179Trp					PHYKPL_ENST00000481811.1_Intron	p.R179W	NM_153373.2	NP_699204.1					6	769	-								A8K7P6|B3KN36|D3DWP9|Q8WYS6|Q96HW8	Missense_Mutation	SNP	ENST00000308158.5	37	c.535C>T	CCDS4434.1	.	.	.	.	.	.	.	.	.	.	G	18.21	3.573193	0.65765	.	.	ENSG00000175309	ENST00000308158;ENST00000323594	T;T	0.43688	2.12;0.94	6.06	3.21	0.36854	Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.110656	0.64402	D	0.000014	T	0.64951	0.2645	M	0.84219	2.685	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.76575	0.978;0.988	T	0.67554	-0.5641	10	0.72032	D	0.01	-20.6094	12.3081	0.54914	0.0:0.0:0.557:0.443	.	179;179	A8K7P6;Q8IUZ5	.;AT2L2_HUMAN	W	179;193	ENSP00000310978:R179W;ENSP00000321290:R193W	ENSP00000310978:R179W	R	-	1	2	AGXT2L2	177584138	1.000000	0.71417	0.316000	0.25252	0.934000	0.57294	1.468000	0.35332	0.383000	0.24910	0.655000	0.94253	CGG		0.632	PHYKPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253477.1	NM_032921		19	48	0	0	0	1	0	19	48					A	177651532	G	A	177651532	3	1	305	1	0	0	0	0	1	0	0	0	407	1115	39	2	845	2	AGXT2L2	5	177651532	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	1013366	177651532	3263728	349	14866											
ZNF454	285676	broad.mit.edu	37	chr5	178392010	178392010	+	Frame_Shift_Del	DEL	A	A	-																															acatcagaaaattcataatgAaaaaaatgcaaatcagaaaa																										TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr5:178392010delA	ENST00000320129.3	+	5	908	c.605delA	c.(604-606)gaafs	p.E202fs	ZNF454_ENST00000519564.1_Frame_Shift_Del_p.E202fs	NM_001178090.1|NM_182594.2	NP_001171561.1|NP_872400.2	Q8N9F8	ZN454_HUMAN	zinc finger protein 454	202					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(11)|lung(18)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)	46	all_cancers(89;0.000904)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.225)|all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.234)		ATTCATAATGAAAAAAATGCA	0.348																																						ENST00000320129.3																			0				breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(11)|lung(18)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)	46						c.(604-606)gafs		zinc finger protein 454							40	45	43					5																	178392010		2202	4299	6501	SO:0001589	frameshift_variant	285676				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr5:178392010delA	AK094763	CCDS4441.1	5q35.3	2013-01-08			ENSG00000178187	ENSG00000178187		"Zinc fingers, C2H2-type", "-"	21200	protein-coding gene	gene with protein product							Standard	NM_182594		Approved	FLJ37444	uc021yjc.1	Q8N9F8	OTTHUMG00000130891	ENST00000320129.3:c.605delA	5.37:g.178392010delA	ENSP00000326249:p.Glu202fs					ZNF454_ENST00000519564.1_Frame_Shift_Del_p.E202fs	p.E202fs	NM_001178090.1|NM_182594.2	NP_001171561.1|NP_872400.2	Q8N9F8	ZN454_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.234)	5	908	+	all_cancers(89;0.000904)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.225)|all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	202					Q2M1P2|Q2M323	Frame_Shift_Del	DEL	ENST00000320129.3	37	c.605delA	CCDS4441.1																																																																																				0.348	ZNF454-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253476.2	XM_209718		7	48						7	48	---	---	---	---	-	178392010	A	-	178392010	7	5	305	1	0	1	0	1	0	0	0	0	17920	246	9	0	619	0	ZNF454	5	178392010	Frame_Shift_Del	DEL	A	TCGA-KK-A59V-01A-11D-A29Q-08	740478	178392010	2523250	350	14867											
GMDS	2762	broad.mit.edu	37	chr6	2124953	2124953	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctccagcaggaactcagccaGgtaggaaccatcctggggag	11	5	13	12	0	1	0	1	0	0	0	3	3	3	3	4	5	4	2	4	5	3	1			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr6:2124953G>C	ENST00000380815.4	-	2	384	c.115C>G	c.(115-117)Ctg>Gtg	p.L39V	GMDS_ENST00000530927.1_Missense_Mutation_p.L9V	NM_001500.3	NP_001491.1	O60547	GMDS_HUMAN	GDP-mannose 4,6-dehydratase	39					'de novo' GDP-L-fucose biosynthetic process (GO:0042351)|GDP-mannose metabolic process (GO:0019673)|Notch signaling pathway (GO:0007219)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	GDP-mannose 4,6-dehydratase activity (GO:0008446)|NADP+ binding (GO:0070401)		GMDS/PDE8B(2)	breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(2)|lung(8)|prostate(1)	21	Ovarian(93;0.0733)	all_cancers(2;7.64e-19)|all_epithelial(2;3.05e-16)|Colorectal(2;0.00414)|all_hematologic(90;0.00997)|all_lung(73;0.0141)|Lung NSC(90;0.0802)		Epithelial(2;7.61e-06)|all cancers(2;0.000111)|STAD - Stomach adenocarcinoma(2;0.000231)|Colorectal(2;0.00445)|COAD - Colon adenocarcinoma(2;0.0125)|OV - Ovarian serous cystadenocarcinoma(45;0.0563)		AACTCAGCCAGGTAGGAACCA	0.502																																						ENST00000380815.4																		GMDS/PDE8B(2)	0				breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(2)|lung(8)|prostate(1)	21						c.(115-117)Ctg>Gtg		GDP-mannose 4,6-dehydratase							61	56	58					6																	2124953		2203	4300	6503	SO:0001583	missense	2762				'de novo' GDP-L-fucose biosynthetic process|GDP-mannose metabolic process|leukocyte cell-cell adhesion		coenzyme binding|GDP-mannose 4,6-dehydratase activity	g.chr6:2124953G>C	AF042377	CCDS4474.1, CCDS58994.1	6p25	2011-09-14			ENSG00000112699	ENSG00000112699	4.2.1.47	"Short chain dehydrogenase/reductase superfamily / Extended SDR fold"	4369	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 3E, member 1"	602884				9525924, 19027726	Standard	NM_001500		Approved	GMD, SDR3E1	uc003mtq.3	O60547	OTTHUMG00000016143	ENST00000380815.4:c.115C>G	6.37:g.2124953G>C	ENSP00000370194:p.Leu39Val					GMDS_ENST00000530927.1_Missense_Mutation_p.L9V	p.L39V	NM_001500.3	NP_001491.1	O60547	GMDS_HUMAN		Epithelial(2;7.61e-06)|all cancers(2;0.000111)|STAD - Stomach adenocarcinoma(2;0.000231)|Colorectal(2;0.00445)|COAD - Colon adenocarcinoma(2;0.0125)|OV - Ovarian serous cystadenocarcinoma(45;0.0563)	2	384	-	Ovarian(93;0.0733)	all_cancers(2;7.64e-19)|all_epithelial(2;3.05e-16)|Colorectal(2;0.00414)|all_hematologic(90;0.00997)|all_lung(73;0.0141)|Lung NSC(90;0.0802)	39					E9PI88|O75357|Q5T954|Q6FH09|Q9UGZ3|Q9UJK9	Missense_Mutation	SNP	ENST00000380815.4	37	c.115C>G	CCDS4474.1	.	.	.	.	.	.	.	.	.	.	G	15.88	2.962600	0.53400	.	.	ENSG00000112699	ENST00000530927;ENST00000380815	D;D	0.94966	-3.57;-3.57	5.16	3.93	0.45458	NAD-dependent epimerase/dehydratase (1);NAD(P)-binding domain (1);	0.000000	0.64402	D	0.000002	D	0.96778	0.8948	M	0.92026	3.265	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96578	0.9428	10	0.87932	D	0	-22.0459	9.4811	0.38902	0.9061:0.0:0.0939:0.0	.	39	O60547	GMDS_HUMAN	V	9;39	ENSP00000436726:L9V;ENSP00000370194:L39V	ENSP00000370194:L39V	L	-	1	2	GMDS	2069952	1.000000	0.71417	1.000000	0.80357	0.833000	0.47200	2.827000	0.48112	0.717000	0.32145	-0.345000	0.07892	CTG		0.502	GMDS-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000043380.3			9	14	0	0	0	1	0	9	14					C	2124953	G	C	2124953	3	2	305	1	0	0	0	0	1	0	0	0	6486	991	35	5	1043	5	GMDS	6	2124953	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08		2124953	168990114	351	14868											
MYLK4	340156	broad.mit.edu	37	chr6	2685806	2685806	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgtgaacctggccgaaacGccctctgccaaaaagaggaa	13	6	10	12	2	1	2	0	1	1	1	1	4	1	3	4	2	3	0	4	2	5	1			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr6:2685806G>A	ENST00000274643.7	-	5	688	c.346C>T	c.(346-348)Cgt>Tgt	p.R116C	MYLK4_ENST00000268446.5_Missense_Mutation_p.R116C	NM_001012418.3	NP_001012418.2	Q86YV6	MYLK4_HUMAN	myosin light chain kinase family, member 4	116	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.					extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(10)|ovary(2)|skin(1)	23	Ovarian(93;0.0412)	all_hematologic(90;0.0897)				TGGCCGAAACGCCCTCTGCCA	0.577																																						ENST00000274643.7																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(10)|ovary(2)|skin(1)	23						c.(346-348)Cgt>Tgt		myosin light chain kinase family, member 4							80	79	80					6																	2685806		2203	4300	6503	SO:0001583	missense	340156						ATP binding|protein serine/threonine kinase activity	g.chr6:2685806G>A		CCDS34330.1	6p25.2	2008-01-23			ENSG00000145949	ENSG00000145949			27972	protein-coding gene	gene with protein product	"caMLCK like"						Standard	NM_001012418		Approved	SgK085	uc003mty.4	Q86YV6	OTTHUMG00000014121	ENST00000274643.7:c.346C>T	6.37:g.2685806G>A	ENSP00000274643:p.Arg116Cys					MYLK4_ENST00000268446.5_Missense_Mutation_p.R116C	p.R116C	NM_001012418.3	NP_001012418.2	Q86YV6	MYLK4_HUMAN			5	688	-	Ovarian(93;0.0412)	all_hematologic(90;0.0897)	116			Protein kinase.		A2RUC0|Q5TAW2	Missense_Mutation	SNP	ENST00000274643.7	37	c.346C>T	CCDS34330.1	.	.	.	.	.	.	.	.	.	.	G	34	5.366209	0.95900	.	.	ENSG00000145949	ENST00000268446;ENST00000274643	T;T	0.39787	1.06;1.06	5.69	5.69	0.88448	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.46145	D	0.000304	T	0.53546	0.1803	L	0.48642	1.525	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.55173	-0.8182	10	0.87932	D	0	.	18.8157	0.92076	0.0:0.0:1.0:0.0	.	116	Q86YV6	MYLK4_HUMAN	C	116	ENSP00000268446:R116C;ENSP00000274643:R116C	ENSP00000268446:R116C	R	-	1	0	MYLK4	2630805	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	7.919000	0.87513	2.684000	0.91462	0.650000	0.86243	CGT		0.577	MYLK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039632.2	NM_001012418		31	72	0	0	0	1	0	31	72					A	2685806	G	A	2685806	3	1	305	1	0	0	0	0	1	0	0	0	10059	1087	38	1	852	1	MYLK4	6	2685806	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	560853	2685806	168429261	352	14869											
NEDD9	4739	broad.mit.edu	37	chr6	11185821	11185821	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acgccactgtttgtggtgggTaggctctgagagggcttcca	6	11	15	9	1	1	1	0	1	1	1	2	2	2	1	2	4	0	4	2	4	1	3			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr6:11185821T>C	ENST00000379446.5	-	7	2245	c.2079A>G	c.(2077-2079)ctA>ctG	p.L693L	NEDD9_ENST00000504387.1_Silent_p.L693L|RP3-510L9.1_ENST00000500636.2_RNA	NM_001271033.1|NM_006403.3	NP_001257962.1|NP_006394.1	Q14511	CASL_HUMAN	neural precursor cell expressed, developmentally down-regulated 9	693					actin filament bundle assembly (GO:0051017)|cell adhesion (GO:0007155)|cytoskeleton organization (GO:0007010)|integrin-mediated signaling pathway (GO:0007229)|mitotic nuclear division (GO:0007067)|regulation of growth (GO:0040008)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|spindle (GO:0005819)|spindle pole (GO:0000922)				endometrium(3)|kidney(2)|large_intestine(8)|liver(1)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	Breast(50;0.0768)|Ovarian(93;0.152)	all_hematologic(90;0.135)	Epithelial(50;0.0647)|all cancers(50;0.179)			TTGTGGTGGGTAGGCTCTGAG	0.507																																						ENST00000379446.5																			0				endometrium(3)|kidney(2)|large_intestine(8)|liver(1)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						c.(2077-2079)ctA>ctG		neural precursor cell expressed, developmentally down-regulated 9							127	114	118					6																	11185821		2203	4300	6503	SO:0001819	synonymous_variant	4739				actin filament bundle assembly|cell adhesion|cell division|integrin-mediated signaling pathway|mitosis|regulation of growth	cell cortex|focal adhesion|Golgi apparatus|lamellipodium|nucleus	protein binding	g.chr6:11185821T>C	L43821	CCDS4520.1, CCDS34340.1, CCDS47373.1, CCDS75400.1	6p25-p24	2011-04-13			ENSG00000111859	ENSG00000111859		"Cas scaffolding proteins"	7733	protein-coding gene	gene with protein product	"Cas scaffolding protein family member 2", "Cas-like"	602265					Standard	NM_182966		Approved	HEF1, CAS-L, CASS2	uc003mzv.2	Q14511	OTTHUMG00000014255	ENST00000379446.5:c.2079A>G	6.37:g.11185821T>C						NEDD9_ENST00000504387.1_Silent_p.L693L|RP3-510L9.1_ENST00000500636.2_RNA	p.L693L	NM_001271033.1|NM_006403.3	NP_001257962.1|NP_006394.1	Q14511	CASL_HUMAN	Epithelial(50;0.0647)|all cancers(50;0.179)		7	2245	-	Breast(50;0.0768)|Ovarian(93;0.152)	all_hematologic(90;0.135)	693					A8K9G7|A8MSJ9|G5E9Y9|Q5T9R4|Q5XKI0	Silent	SNP	ENST00000379446.5	37	c.2079A>G	CCDS4520.1																																																																																				0.507	NEDD9-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000039853.2	NM_006403		4	77	0	0	0	1	0	4	77					C	11185821	T	C	11185821	2	2	305	1	0	0	0	0	0	0	0	1	10313	1625	57	4		4	NEDD9	6	11185821	Silent	SNP	T	TCGA-KK-A59V-01A-11D-A29Q-08	8500015	11185821	159929246	353	14870											
MYLIP	29116	broad.mit.edu	37	chr6	16143929	16143929	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttttctcttcctgtctcttaGgatagcttatcctgtggtgc	4	19	8	10	0	2	0	0	0	2	0	6	1	4	1	2	2	2	1	2	2	3	6			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr6:16143929G>T	ENST00000356840.3	+	5	860		c.e5-1		MYLIP_ENST00000349606.4_Splice_Site|MIR4639_ENST00000584938.1_RNA	NM_013262.3	NP_037394.2	Q8WY64	MYLIP_HUMAN	myosin regulatory light chain interacting protein						cellular component movement (GO:0006928)|cholesterol homeostasis (GO:0042632)|negative regulation of low-density lipoprotein particle clearance (GO:0010989)|nervous system development (GO:0007399)|positive regulation of protein catabolic process (GO:0045732)|protein destabilization (GO:0031648)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of low-density lipoprotein particle receptor catabolic process (GO:0032803)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	cytoskeletal protein binding (GO:0008092)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28	Breast(50;0.0799)|Ovarian(93;0.103)	all_hematologic(90;0.0895)	Epithelial(50;0.241)			CTGTCTCTTAGGATAGCTTAT	0.453																																						ENST00000349606.4																			0				breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28						c.e4-1		myosin regulatory light chain interacting protein							105	96	99					6																	16143929		2203	4300	6503	SO:0001630	splice_region_variant	29116				cellular component movement|nervous system development	cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr6:16143929G>T	AF187016	CCDS4536.1	6p23-p22.3	2011-11-17			ENSG00000007944	ENSG00000007944			21155	protein-coding gene	gene with protein product	"E3 ubiquitin ligase-inducible degrader of the low density lipoprotein receptor"	610082				10593918, 11162443, 19688294	Standard	NM_013262		Approved	MIR, IDOL	uc003nbq.3	Q8WY64	OTTHUMG00000016405	ENST00000356840.3:c.663-1G>T	6.37:g.16143929G>T						MYLIP_ENST00000356840.3_Splice_Site				Q8WY64	MYLIP_HUMAN	Epithelial(50;0.241)		4	623	+	Breast(50;0.0799)|Ovarian(93;0.103)	all_hematologic(90;0.0895)						Q5TIA4|Q9BU73|Q9NRL9|Q9UHE7	Splice_Site	SNP	ENST00000356840.3	37		CCDS4536.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.312102	0.81358	.	.	ENSG00000007944	ENST00000356840;ENST00000349606	.	.	.	5.46	5.46	0.80206	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.321	0.94240	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	MYLIP	16251908	1.000000	0.71417	0.996000	0.52242	0.924000	0.55760	9.452000	0.97615	2.548000	0.85928	0.591000	0.81541	.		0.453	MYLIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043864.1	NM_013262	Intron	7	90	1	0	8.12818e-05	1	8.30472e-05	7	90					T	16143929	G	T	16143929	5	4	305	1	0	0	0	0	0	0	1	0	10055	1014	35	5	680	5	MYLIP	6	16143929	Splice_Site	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	4958108	16143929	154971138	354	14871											
CAP2	10486	broad.mit.edu	37	chr6	17507412	17507412	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcttacagaatgacgtggccGcacttctgaaacccatatcg	11	9	9	12	3	1	3	0	2	1	1	2	3	1	3	2	1	2	2	2	1	4	3			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr6:17507412G>A	ENST00000229922.2	+	5	845	c.313G>A	c.(313-315)Gca>Aca	p.A105T	CAP2_ENST00000489374.1_Intron|CAP2_ENST00000378990.2_Missense_Mutation_p.A79T|CAP2_ENST00000493172.1_Intron|CAP2_ENST00000465994.1_Missense_Mutation_p.A105T	NM_006366.2	NP_006357.1	P40123	CAP2_HUMAN	CAP, adenylate cyclase-associated protein, 2 (yeast)	105					activation of adenylate cyclase activity (GO:0007190)|axon guidance (GO:0007411)|cytoskeleton organization (GO:0007010)|establishment or maintenance of cell polarity (GO:0007163)|signal transduction (GO:0007165)	plasma membrane (GO:0005886)		p.A105T(1)		breast(3)|endometrium(4)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(4)|urinary_tract(1)	27	Breast(50;0.0333)|Ovarian(93;0.0386)	all_hematologic(90;0.0466)	all cancers(50;0.194)|Epithelial(50;0.227)			TGACGTGGCCGCACTTCTGAA	0.473																																						ENST00000229922.2																			1	Substitution - Missense(1)	p.A105T(1)	lung(1)	breast(3)|endometrium(4)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(4)|urinary_tract(1)	27						c.(313-315)Gca>Aca		CAP, adenylate cyclase-associated protein, 2 (yeast)							73	74	74					6																	17507412		2203	4300	6503	SO:0001583	missense	10486				activation of adenylate cyclase activity|axon guidance|cytoskeleton organization|establishment or maintenance of cell polarity|signal transduction	plasma membrane	actin binding	g.chr6:17507412G>A	BC008481	CCDS4539.1	6p22.3	2008-02-05			ENSG00000112186	ENSG00000112186			20039	protein-coding gene	gene with protein product						7962207, 8761950	Standard	NM_006366		Approved		uc003ncb.3	P40123	OTTHUMG00000014311	ENST00000229922.2:c.313G>A	6.37:g.17507412G>A	ENSP00000229922:p.Ala105Thr					CAP2_ENST00000465994.1_Missense_Mutation_p.A105T|CAP2_ENST00000378990.2_Missense_Mutation_p.A79T|CAP2_ENST00000493172.1_Intron|CAP2_ENST00000489374.1_Intron	p.A105T	NM_006366.2	NP_006357.1	P40123	CAP2_HUMAN	all cancers(50;0.194)|Epithelial(50;0.227)		5	845	+	Breast(50;0.0333)|Ovarian(93;0.0386)	all_hematologic(90;0.0466)	105					B2R5Y3|B7Z1C4|B7Z214|Q6IAY2	Missense_Mutation	SNP	ENST00000229922.2	37	c.313G>A	CCDS4539.1	.	.	.	.	.	.	.	.	.	.	G	0.547	-0.850919	0.02651	.	.	ENSG00000112186	ENST00000229922;ENST00000378994;ENST00000378990;ENST00000465994	T;T;T	0.11821	2.74;2.74;2.74	5.38	0.545	0.17190	Adenylate cyclase-associated CAP, N-terminal (2);	0.434279	0.27289	N	0.020054	T	0.01353	0.0044	N	0.04805	-0.155	0.09310	N	1	B;B;B	0.11235	0.002;0.003;0.004	B;B;B	0.09377	0.003;0.004;0.003	T	0.47471	-0.9115	10	0.14656	T	0.56	-3.1059	6.7367	0.23413	0.3309:0.0:0.553:0.1162	.	105;79;105	B7Z1C4;E9PDI2;P40123	.;.;CAP2_HUMAN	T	105;105;79;105	ENSP00000229922:A105T;ENSP00000368275:A79T;ENSP00000418604:A105T	ENSP00000229922:A105T	A	+	1	0	CAP2	17615391	0.000000	0.05858	0.273000	0.24645	0.024000	0.10985	-0.057000	0.11768	0.012000	0.14892	-1.181000	0.01715	GCA		0.473	CAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039952.2			19	54	0	0	0	1	0	19	54					A	17507412	G	A	17507412	3	1	305	1	0	0	0	0	1	0	0	0	2620	1087	38	1	327	1	CAP2	6	17507412	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	1363483	17507412	153607655	355	14872											
CAP2	10486	broad.mit.edu	37	chr6	17507500	17507500	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	taacatgtttaatcatctttCggccgtcagcgaaagcatcc	11	12	7	11	3	3	0	2	0	1	0	5	1	4	0	2	1	3	2	2	1	3	4	rs200559179		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr6:17507500C>T	ENST00000229922.2	+	5	933	c.401C>T	c.(400-402)tCg>tTg	p.S134L	CAP2_ENST00000489374.1_Intron|CAP2_ENST00000378990.2_Missense_Mutation_p.S108L|CAP2_ENST00000493172.1_Intron|CAP2_ENST00000465994.1_Missense_Mutation_p.S134L	NM_006366.2	NP_006357.1	P40123	CAP2_HUMAN	CAP, adenylate cyclase-associated protein, 2 (yeast)	134					activation of adenylate cyclase activity (GO:0007190)|axon guidance (GO:0007411)|cytoskeleton organization (GO:0007010)|establishment or maintenance of cell polarity (GO:0007163)|signal transduction (GO:0007165)	plasma membrane (GO:0005886)				breast(3)|endometrium(4)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(4)|urinary_tract(1)	27	Breast(50;0.0333)|Ovarian(93;0.0386)	all_hematologic(90;0.0466)	all cancers(50;0.194)|Epithelial(50;0.227)			AATCATCTTTCGGCCGTCAGC	0.478													C|||	1	0.000199681	0	0	5008	,	,		19670	0		0.001	False		,,,				2504	0					ENST00000229922.2																			0				breast(3)|endometrium(4)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(4)|urinary_tract(1)	27						c.(400-402)tCg>tTg		CAP, adenylate cyclase-associated protein, 2 (yeast)							123	99	107					6																	17507500		2203	4300	6503	SO:0001583	missense	10486				activation of adenylate cyclase activity|axon guidance|cytoskeleton organization|establishment or maintenance of cell polarity|signal transduction	plasma membrane	actin binding	g.chr6:17507500C>T	BC008481	CCDS4539.1	6p22.3	2008-02-05			ENSG00000112186	ENSG00000112186			20039	protein-coding gene	gene with protein product						7962207, 8761950	Standard	NM_006366		Approved		uc003ncb.3	P40123	OTTHUMG00000014311	ENST00000229922.2:c.401C>T	6.37:g.17507500C>T	ENSP00000229922:p.Ser134Leu					CAP2_ENST00000465994.1_Missense_Mutation_p.S134L|CAP2_ENST00000378990.2_Missense_Mutation_p.S108L|CAP2_ENST00000493172.1_Intron|CAP2_ENST00000489374.1_Intron	p.S134L	NM_006366.2	NP_006357.1	P40123	CAP2_HUMAN	all cancers(50;0.194)|Epithelial(50;0.227)		5	933	+	Breast(50;0.0333)|Ovarian(93;0.0386)	all_hematologic(90;0.0466)	134					B2R5Y3|B7Z1C4|B7Z214|Q6IAY2	Missense_Mutation	SNP	ENST00000229922.2	37	c.401C>T	CCDS4539.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	21.5	4.155415	0.78114	.	.	ENSG00000112186	ENST00000229922;ENST00000378994;ENST00000378990;ENST00000465994	T;T;T	0.23950	1.88;1.88;1.88	5.38	5.38	0.77491	Adenylate cyclase-associated CAP, N-terminal (2);	0.000000	0.85682	D	0.000000	T	0.57080	0.2029	M	0.92412	3.305	0.58432	D	0.999993	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.91635	0.998;0.954;0.999	T	0.68949	-0.5274	10	0.87932	D	0	-10.6699	18.7182	0.91684	0.0:1.0:0.0:0.0	.	134;108;134	B7Z1C4;E9PDI2;P40123	.;.;CAP2_HUMAN	L	134;134;108;134	ENSP00000229922:S134L;ENSP00000368275:S108L;ENSP00000418604:S134L	ENSP00000229922:S134L	S	+	2	0	CAP2	17615479	1.000000	0.71417	0.843000	0.33291	0.995000	0.86356	7.711000	0.84669	2.515000	0.84797	0.557000	0.71058	TCG		0.478	CAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039952.2			15	65	0	0	0	1	0	15	65					T	17507500	C	T	17507500	3	4	305	1	0	0	0	0	1	0	0	0	2620	893	31	2	415	2	CAP2	6	17507500	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	88	17507500	153607567	356	14873											
GPLD1	2822	broad.mit.edu	37	chr6	24473884	24473884	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgagcctctgaataggagccGtgaaaatcaatctaagaaag	16	8	10	7	1	3	4	1	3	2	1	3	5	3	5	2	1	2	0	2	1	7	2	rs149870664		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr6:24473884G>A	ENST00000230036.1	-	6	563	c.453C>T	c.(451-453)caC>caT	p.H151H	GPLD1_ENST00000474784.1_5'UTR	NM_001503.3	NP_001494.2	P80108	PHLD_HUMAN	glycosylphosphatidylinositol specific phospholipase D1	151					cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to calcium ion (GO:0071277)|cellular response to cholesterol (GO:0071397)|cellular response to drug (GO:0035690)|cellular response to insulin stimulus (GO:0032869)|cellular response to pH (GO:0071467)|cellular response to triglyceride (GO:0071401)|chondrocyte differentiation (GO:0002062)|complement receptor mediated signaling pathway (GO:0002430)|GPI anchor release (GO:0006507)|hematopoietic stem cell migration (GO:0035701)|hematopoietic stem cell migration to bone marrow (GO:0097241)|insulin receptor signaling pathway (GO:0008286)|negative regulation of cell proliferation (GO:0008285)|negative regulation of triglyceride catabolic process (GO:0010897)|ossification (GO:0001503)|phosphatidylcholine metabolic process (GO:0046470)|positive regulation of alkaline phosphatase activity (GO:0010694)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cytolysis (GO:0045919)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of glucose metabolic process (GO:0010907)|positive regulation of high-density lipoprotein particle clearance (GO:0010983)|positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0035774)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|positive regulation of secretion (GO:0051047)|positive regulation of triglyceride biosynthetic process (GO:0010867)|regulation of cellular response to insulin stimulus (GO:1900076)|response to glucose (GO:0009749)|transepithelial transport (GO:0070633)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal membrane (GO:0005765)|proteinaceous extracellular matrix (GO:0005578)	glycosylphosphatidylinositol phospholipase D activity (GO:0004621)|phospholipase D activity (GO:0004630)|sodium channel regulator activity (GO:0017080)			breast(3)|endometrium(5)|kidney(1)|large_intestine(11)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	32						AATAGGAGCCGTGAAAATCAA	0.388																																						ENST00000230036.1																			0				breast(3)|endometrium(5)|kidney(1)|large_intestine(11)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	32						c.(451-453)caC>caT		glycosylphosphatidylinositol specific phospholipase D1		G	,	1,4405	2.1+/-5.4	0,1,2202	47	47	47		453,453	-4.4	0	6	dbSNP_134	47	2,8598	2.2+/-6.3	0,2,4298	yes	coding-synonymous,coding-synonymous	GPLD1	NM_001503.2,NM_177483.1	,	0,3,6500	AA,AG,GG		0.0233,0.0227,0.0231	,	151/841,151/177	24473884	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	2822					extracellular region	glycosylphosphatidylinositol phospholipase D activity	g.chr6:24473884G>A	L11701	CCDS4553.1	6p22.1	2008-02-05			ENSG00000112293	ENSG00000112293			4459	protein-coding gene	gene with protein product		602515				11072085	Standard	NM_001503		Approved		uc003ned.2	P80108	OTTHUMG00000016104	ENST00000230036.1:c.453C>T	6.37:g.24473884G>A						GPLD1_ENST00000474784.1_5'UTR	p.H151H	NM_001503.3	NP_001494.2	P80108	PHLD_HUMAN			6	563	-			151					Q15127|Q15128|Q2M2F2|Q5T3Y0|Q7Z6T8|Q8TCV0|Q8WW82|Q96ID6|Q9H167|Q9H4M1|Q9UJC9	Silent	SNP	ENST00000230036.1	37	c.453C>T	CCDS4553.1																																																																																				0.388	GPLD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043315.1	NM_001503		6	27	0	0	0	1	0	6	27					A	24473884	G	A	24473884	2	1	305	1	0	0	0	0	0	0	0	1	6614	1136	40	1		1	GPLD1	6	24473884	Silent	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	6966384	24473884	146641183	357	14874											
ZNF184	7738	broad.mit.edu	37	chr6	27420591	27420591	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcacattcattacatttgtaGggtttttctccagtatgtgt	8	19	7	7	0	3	0	2	0	1	0	4	0	3	0	1	1	1	3	1	1	3	7			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr6:27420591G>T	ENST00000211936.6	-	6	1031	c.747C>A	c.(745-747)ccC>ccA	p.P249P	ZNF184_ENST00000377419.1_Silent_p.P249P	NM_007149.2	NP_009080.2	Q99676	ZN184_HUMAN	zinc finger protein 184	249					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.P249P(1)		breast(1)|cervix(1)|endometrium(4)|kidney(9)|large_intestine(13)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	48						TACATTTGTAGGGTTTTTCTC	0.348																																						ENST00000211936.6																			1	Substitution - coding silent(1)	p.P249P(1)	endometrium(1)	breast(1)|cervix(1)|endometrium(4)|kidney(9)|large_intestine(13)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	48						c.(745-747)ccC>ccA		zinc finger protein 184							119	125	123					6																	27420591		2203	4300	6503	SO:0001819	synonymous_variant	7738				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:27420591G>T	U66561	CCDS4624.1	6p21.3	2013-01-08	2006-06-28		ENSG00000096654	ENSG00000096654		"Zinc fingers, C2H2-type", "-"	12975	protein-coding gene	gene with protein product		602277	"zinc finger protein 184 (Kruppel-like)"				Standard	NM_007149		Approved		uc003nji.3	Q99676	OTTHUMG00000014478	ENST00000211936.6:c.747C>A	6.37:g.27420591G>T						ZNF184_ENST00000377419.1_Silent_p.P249P	p.P249P	NM_007149.2	NP_009080.2	Q99676	ZN184_HUMAN			6	1031	-			249					B2R715|O60792|Q8TBA9	Silent	SNP	ENST00000211936.6	37	c.747C>A	CCDS4624.1																																																																																				0.348	ZNF184-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040146.1	NM_007149		47	117	1	0	1.61004e-24	1	1.69461e-24	47	117					T	27420591	G	T	27420591	2	4	305	1	0	0	0	0	0	0	0	1	17748	987	35	5		5	ZNF184	6	27420591	Silent	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	2946707	27420591	143694476	358	14875											
SCAND3	114821	broad.mit.edu	37	chr6	28554157	28554157	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cactctcaggattatgctccCgcacccaagactggagctcc	9	8	8	16	1	1	1	1	0	1	1	4	3	3	3	3	2	2	3	3	2	2	1			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr6:28554157C>T	ENST00000452236.2	-	1	955	c.338G>A	c.(337-339)cGg>cAg	p.R113Q	SCAND3_ENST00000530247.1_Intron|RP5-1186N24.3_ENST00000499525.1_RNA	NM_052923.1	NP_443155.1														NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						ATTATGCTCCCGCACCCAAGA	0.527																																						ENST00000452236.2																			0				NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						c.(337-339)cGg>cAg		SCAN domain containing 3							123	130	128					6																	28554157		2203	4300	6503	SO:0001583	missense	114821				DNA integration|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity	g.chr6:28554157C>T																												ENST00000452236.2:c.338G>A	6.37:g.28554157C>T	ENSP00000395259:p.Arg113Gln					SCAND3_ENST00000530247.1_Intron	p.R113Q	NM_052923.1	NP_443155.1	Q6R2W3	SCND3_HUMAN			1	955	-			113			SCAN box.			Missense_Mutation	SNP	ENST00000452236.2	37	c.338G>A	CCDS34355.1	.	.	.	.	.	.	.	.	.	.	C	12.64	1.999106	0.35226	.	.	ENSG00000232040	ENST00000452236	T	0.04049	3.72	3.46	1.66	0.24008	Retrovirus capsid, C-terminal (1);Transcription regulator SCAN (3);	.	.	.	.	T	0.01287	0.0042	N	0.20304	0.555	0.23174	N	0.99817	P	0.48911	0.917	P	0.45881	0.496	T	0.48340	-0.9044	9	0.26408	T	0.33	.	5.6758	0.17747	0.0:0.6443:0.0:0.3557	.	113	Q6R2W3	SCND3_HUMAN	Q	113	ENSP00000395259:R113Q	ENSP00000395259:R113Q	R	-	2	0	SCAND3	28662136	0.000000	0.05858	0.683000	0.30040	0.759000	0.43091	-0.482000	0.06544	0.291000	0.22468	0.655000	0.94253	CGG		0.527	SCAND3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000043551.3			7	230	0	0	0	1	0	7	230					T	28554157	C	T	28554157	3	4	305	1	0	0	0	0	1	0	0	0	13876	652	23	2	3655	2	SCAND3	6	28554157	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	1133566	28554157	142560910	359	14876											
OR12D2	26529	broad.mit.edu	37	chr6	29364665	29364665	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	atgtatttcttcctgggaaaCctgtcctacctggatatctg	8	15	8	10	0	2	0	0	0	2	0	4	2	4	2	4	2	2	1	4	2	4	5			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr6:29364665C>A	ENST00000383555.2	+	1	250	c.189C>A	c.(187-189)aaC>aaA	p.N63K	OR5V1_ENST00000377154.1_Intron	NM_013936.3	NP_039224.2	P58182	O12D2_HUMAN	olfactory receptor, family 12, subfamily D, member 2 (gene/pseudogene)	63						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(20)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	31						TCCTGGGAAACCTGTCCTACC	0.438																																						ENST00000383555.2																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(20)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	31						c.(187-189)aaC>aaA		olfactory receptor, family 12, subfamily D, member 2 (gene/pseudogene)							111	112	112					6																	29364665		1509	2708	4217	SO:0001583	missense	26529				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr6:29364665C>A		CCDS4659.1	6p22.2-p21.31	2013-10-10	2013-10-10		ENSG00000168787	ENSG00000168787		"GPCR / Class A : Olfactory receptors"	8178	protein-coding gene	gene with protein product			"olfactory receptor, family 12, subfamily D, member 2"				Standard	NM_013936		Approved	hs6M1-20	uc003nmf.4	P58182	OTTHUMG00000031049	ENST00000383555.2:c.189C>A	6.37:g.29364665C>A	ENSP00000373047:p.Asn63Lys					OR5V1_ENST00000377154.1_Intron	p.N63K	NM_013936.3	NP_039224.2	P58182	O12D2_HUMAN			1	250	+			63					B0S862|Q5SUN9|Q6IET9	Missense_Mutation	SNP	ENST00000383555.2	37	c.189C>A	CCDS4659.1	.	.	.	.	.	.	.	.	.	.	C	7.158	0.585211	0.13749	.	.	ENSG00000168787	ENST00000383555	T	0.12879	2.64	4.07	-0.567	0.11763	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000005	T	0.08891	0.0220	M	0.92122	3.275	0.30237	N	0.795386	B	0.34147	0.438	B	0.33339	0.162	T	0.03000	-1.1084	10	0.72032	D	0.01	.	4.9827	0.14175	0.1374:0.5763:0.0:0.2863	.	63	P58182	O12D2_HUMAN	K	63	ENSP00000373047:N63K	ENSP00000373047:N63K	N	+	3	2	OR12D2	29472644	0.000000	0.05858	0.051000	0.19133	0.004000	0.04260	-0.423000	0.07034	-0.395000	0.07715	-0.474000	0.04947	AAC		0.438	OR12D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076054.2			26	66	1	0	1.85244e-09	1	1.91803e-09	26	66					A	29364665	C	A	29364665	3	1	305	1	0	0	0	0	1	0	0	0	10931	506	18	5	191	5	OR12D2	6	29364665	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	810508	29364665	141750402	360	14877											
MRPS18B	28973	broad.mit.edu	37	chr6	30593450	30593450	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agaactgtctcgccttcgccGgctttaccagggtcatctcc	6	11	9	15	3	3	1	1	0	2	1	6	1	3	1	4	2	2	1	4	2	2	3			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr6:30593450G>A	ENST00000259873.4	+	7	810	c.653G>A	c.(652-654)cGg>cAg	p.R218Q	ATAT1_ENST00000376478.2_5'Flank|ATAT1_ENST00000376483.4_5'Flank|ATAT1_ENST00000318999.7_5'Flank|ATAT1_ENST00000330083.5_5'Flank|MRPS18B_ENST00000506373.2_3'UTR|ATAT1_ENST00000319027.5_5'Flank|ATAT1_ENST00000376485.4_5'Flank|ATAT1_ENST00000329992.8_5'Flank|MRPS18B_ENST00000472229.1_3'UTR	NM_014046.3	NP_054765.1	Q9Y676	RT18B_HUMAN	mitochondrial ribosomal protein S18B	218					translation (GO:0006412)	cell junction (GO:0030054)|mitochondrial small ribosomal subunit (GO:0005763)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	structural constituent of ribosome (GO:0003735)			endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|prostate(1)|skin(2)	13						CGCCTTCGCCGGCTTTACCAG	0.612																																						ENST00000259873.4																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|prostate(1)|skin(2)	13						c.(652-654)cGg>cAg		mitochondrial ribosomal protein S18B							98	107	104					6																	30593450		1510	2709	4219	SO:0001583	missense	28973				translation	mitochondrial small ribosomal subunit	protein binding|structural constituent of ribosome	g.chr6:30593450G>A	AF100761	CCDS4682.1	6p21	2012-09-13			ENSG00000204568	ENSG00000204568		"Mitochondrial ribosomal proteins / small subunits"	14516	protein-coding gene	gene with protein product		611982				11279123	Standard	NM_014046		Approved	MRPS18-2, PTD017, C6orf14, HSPC183	uc003nqo.2	Q9Y676	OTTHUMG00000031268	ENST00000259873.4:c.653G>A	6.37:g.30593450G>A	ENSP00000259873:p.Arg218Gln					MRPS18B_ENST00000472229.1_3'UTR|MRPS18B_ENST00000506373.2_3'UTR	p.R218Q	NM_014046.3	NP_054765.1	Q9Y676	RT18B_HUMAN			7	810	+			218					A6NDQ0|Q659G4|Q9BS27	Missense_Mutation	SNP	ENST00000259873.4	37	c.653G>A	CCDS4682.1	.	.	.	.	.	.	.	.	.	.	G	17.41	3.381375	0.61845	.	.	ENSG00000204568	ENST00000259873;ENST00000376508	T	0.51574	0.7	5.43	5.43	0.79202	.	0.147360	0.43260	D	0.000599	T	0.52419	0.1733	M	0.65975	2.015	0.22531	N	0.999018	D;D	0.89917	1.0;0.996	D;P	0.66847	0.947;0.644	T	0.51028	-0.8757	10	0.72032	D	0.01	.	10.0424	0.42166	0.0887:0.0:0.9113:0.0	.	175;218	Q5STN0;Q9Y676	.;RT18B_HUMAN	Q	218;175	ENSP00000259873:R218Q	ENSP00000259873:R218Q	R	+	2	0	MRPS18B	30701429	0.746000	0.28272	0.954000	0.39281	0.429000	0.31625	1.749000	0.38319	2.825000	0.97269	0.655000	0.94253	CGG		0.612	MRPS18B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076584.2			6	178	0	0	0	1	0	6	178					A	30593450	G	A	30593450	3	1	305	1	0	0	0	0	1	0	0	0	9829	1116	39	2	679	2	MRPS18B	6	30593450	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	1228785	30593450	140521617	361	14878											
MDC1	9656	broad.mit.edu	37	chr6	30670918	30670918	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gggacagaatggggattcccCgccccagggcacacaggaac	11	3	14	13	1	0	1	0	0	0	1	1	4	1	4	4	5	1	1	4	5	2	1	rs148600920		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr6:30670918C>T	ENST00000376406.3	-	12	6475	c.5828G>A	c.(5827-5829)cGg>cAg	p.R1943Q	MDC1_ENST00000376405.2_Missense_Mutation_p.R1679Q|MDC1-AS1_ENST00000442150.1_RNA	NM_014641.2	NP_055456.2	Q14676	MDC1_HUMAN	mediator of DNA-damage checkpoint 1	1943	BRCT 1. {ECO:0000255|PROSITE- ProRule:PRU00033}.|Required for nuclear localization (NLS2).				DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|intra-S DNA damage checkpoint (GO:0031573)	chromosome (GO:0005694)|focal adhesion (GO:0005925)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	FHA domain binding (GO:0070975)|protein C-terminus binding (GO:0008022)			breast(2)|kidney(1)|ovary(1)	4						GGGGATTCCCCGCCCCAGGGC	0.597								Other conserved DNA damage response genes					C|||	1	0.000199681	0	0	5008	,	,		14143	0		0.001	False		,,,				2504	0					ENST00000376406.3																			0				breast(2)|kidney(1)|ovary(1)	4						c.(5827-5829)cGg>cAg	Other conserved DNA damage response genes	mediator of DNA-damage checkpoint 1		C	GLN/ARG	1,3015		0,1,1507	58	53	55		5828	3.7	1	6	dbSNP_134	55	5,5411		0,5,2703	yes	missense	MDC1	NM_014641.2	43	0,6,4210	TT,TC,CC		0.0923,0.0332,0.0712	probably-damaging	1943/2090	30670918	6,8426	1508	2708	4216	SO:0001583	missense	9656				cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint	focal adhesion|nucleoplasm	FHA domain binding|protein C-terminus binding	g.chr6:30670918C>T	D79992	CCDS34384.1	6p21.3	2010-02-17	2009-06-12		ENSG00000137337	ENSG00000137337			21163	protein-coding gene	gene with protein product		607593				10975465, 12607005	Standard	NM_014641		Approved	NFBD1, KIAA0170, Em:AB023051.5	uc003nrg.4	Q14676	OTTHUMG00000031075	ENST00000376406.3:c.5828G>A	6.37:g.30670918C>T	ENSP00000365588:p.Arg1943Gln					MDC1-AS1_ENST00000442150.1_RNA|MDC1_ENST00000376405.2_Missense_Mutation_p.R1679Q	p.R1943Q	NM_014641.2	NP_055456.2	Q14676	MDC1_HUMAN			12	6475	-			1943			BRCT 1.|Required for nuclear localization (NLS2).		A2AB04|A2BF04|A2RRA8|A7YY86|B0S8A2|Q0EFC2|Q2L6H7|Q2TAZ4|Q5JP55|Q5JP56|Q5ST83|Q68CQ3|Q86Z06|Q96QC2	Missense_Mutation	SNP	ENST00000376406.3	37	c.5828G>A	CCDS34384.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.361982	0.82353	3.32E-4	9.23E-4	ENSG00000137337	ENST00000376406;ENST00000376405;ENST00000429610;ENST00000422104	D;D	0.86497	-2.13;-2.13	5.45	3.65	0.41850	BRCT (3);	0.280924	0.19743	N	0.107076	D	0.83496	0.5267	M	0.62154	1.92	0.32702	N	0.512756	D;D	0.89917	0.999;1.0	P;P	0.59643	0.688;0.861	T	0.77691	-0.2493	10	0.22109	T	0.4	-8.5462	7.4979	0.27500	0.0:0.7423:0.0:0.2577	.	1943;920	Q14676;Q14676-4	MDC1_HUMAN;.	Q	1943;1679;1656;1509	ENSP00000365588:R1943Q;ENSP00000365587:R1679Q	ENSP00000365587:R1679Q	R	-	2	0	MDC1	30778897	1.000000	0.71417	0.998000	0.56505	0.946000	0.59487	2.103000	0.41806	0.773000	0.33404	0.555000	0.69702	CGG		0.597	MDC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000076103.1	NM_014641		5	61	0	0	0	1	0	5	61					T	30670918	C	T	30670918	3	4	305	1	0	0	0	0	1	0	0	0	9403	652	23	2	457	2	MDC1	6	30670918	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	77468	30670918	140444149	362	14879											
MDC1	9656	broad.mit.edu	37	chr6	30673764	30673764	+	Frame_Shift_Del	DEL	G	G	-																															aggtaaaaggggagaaagaaGgggcggaggtgcaagatgtt																										TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr6:30673764delG	ENST00000376406.3	-	10	3843	c.3196delC	c.(3196-3198)cttfs	p.L1067fs	MDC1_ENST00000376405.2_Frame_Shift_Del_p.L803fs|MDC1-AS1_ENST00000442150.1_RNA	NM_014641.2	NP_055456.2	Q14676	MDC1_HUMAN	mediator of DNA-damage checkpoint 1	1067	Pro-rich.			Missing (in Ref. 2; CAH18685). {ECO:0000305}.	DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|intra-S DNA damage checkpoint (GO:0031573)	chromosome (GO:0005694)|focal adhesion (GO:0005925)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	FHA domain binding (GO:0070975)|protein C-terminus binding (GO:0008022)			breast(2)|kidney(1)|ovary(1)	4						GGAGAAAGAAGGGGCGGAGGT	0.547								Other conserved DNA damage response genes																														ENST00000376406.3																			0				breast(2)|kidney(1)|ovary(1)	4						c.(3196-3198)ttfs	Other conserved DNA damage response genes	mediator of DNA-damage checkpoint 1							109	120	117					6																	30673764		2203	4300	6503	SO:0001589	frameshift_variant	9656				cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint	focal adhesion|nucleoplasm	FHA domain binding|protein C-terminus binding	g.chr6:30673764delG	D79992	CCDS34384.1	6p21.3	2010-02-17	2009-06-12		ENSG00000137337	ENSG00000137337			21163	protein-coding gene	gene with protein product		607593				10975465, 12607005	Standard	NM_014641		Approved	NFBD1, KIAA0170, Em:AB023051.5	uc003nrg.4	Q14676	OTTHUMG00000031075	ENST00000376406.3:c.3196delC	6.37:g.30673764delG	ENSP00000365588:p.Leu1067fs					MDC1-AS1_ENST00000442150.1_RNA|MDC1_ENST00000376405.2_Frame_Shift_Del_p.L803fs	p.L1067fs	NM_014641.2	NP_055456.2	Q14676	MDC1_HUMAN			10	3843	-			1067	Missing (in Ref. 2; CAH18685).		Pro-rich.		A2AB04|A2BF04|A2RRA8|A7YY86|B0S8A2|Q0EFC2|Q2L6H7|Q2TAZ4|Q5JP55|Q5JP56|Q5ST83|Q68CQ3|Q86Z06|Q96QC2	Frame_Shift_Del	DEL	ENST00000376406.3	37	c.3196delC	CCDS34384.1																																																																																				0.547	MDC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000076103.1	NM_014641		45	162						45	162	---	---	---	---	-	30673764	G	-	30673764	7	5	305	1	0	1	0	1	0	0	0	0	9403	1000	35	0	3097	0	MDC1	6	30673764	Frame_Shift_Del	DEL	G	TCGA-KK-A59V-01A-11D-A29Q-08	2846	30673764	140441303	363	14880											
ZBTB12	221527	broad.mit.edu	37	chr6	31867788	31867788	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtgttgctccttgaggtgcCgcctaatggcaggcttgtgg	4	12	15	10	2	0	1	0	1	0	0	1	1	1	1	3	4	2	4	3	4	1	4			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr6:31867788C>T	ENST00000375527.2	-	2	1470	c.1295G>A	c.(1294-1296)cGg>cAg	p.R432Q	EHMT2_ENST00000375537.4_5'Flank|EHMT2_ENST00000395728.3_5'Flank|C2_ENST00000452323.2_5'Flank|EHMT2_ENST00000375528.4_5'Flank|C2_ENST00000469372.1_Intron|EHMT2_ENST00000375530.4_5'Flank	NM_181842.2	NP_862825.1	Q9Y330	ZBT12_HUMAN	zinc finger and BTB domain containing 12	432					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(2)|kidney(1)|lung(5)|prostate(1)|skin(1)	10						CTTGAGGTGCCGCCTAATGGC	0.647																																						ENST00000375527.2																			0				endometrium(2)|kidney(1)|lung(5)|prostate(1)|skin(1)	10						c.(1294-1296)cGg>cAg		zinc finger and BTB domain containing 12							35	28	30					6																	31867788		2184	4266	6450	SO:0001583	missense	221527				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:31867788C>T	BC043609	CCDS4727.1	6p21.31	2013-01-08	2004-04-15	2004-04-16	ENSG00000204366	ENSG00000204366		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	19066	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 46"	C6orf46		9545376	Standard	NM_181842		Approved	G10, NG35, D6S59E	uc003nyd.1	Q9Y330	OTTHUMG00000031169	ENST00000375527.2:c.1295G>A	6.37:g.31867788C>T	ENSP00000364677:p.Arg432Gln					C2_ENST00000469372.1_Intron	p.R432Q	NM_181842.2	NP_862825.1	Q9Y330	ZBT12_HUMAN			2	1470	-			432					B0UY00|Q5JQ98	Missense_Mutation	SNP	ENST00000375527.2	37	c.1295G>A	CCDS4727.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.167001	0.78339	.	.	ENSG00000204366	ENST00000375527	T	0.07444	3.19	3.82	3.82	0.43975	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.64402	U	0.000001	T	0.05181	0.0138	L	0.28192	0.835	0.39337	D	0.965516	D	0.71674	0.998	P	0.52066	0.689	T	0.51490	-0.8699	10	0.23891	T	0.37	.	14.4835	0.67599	0.0:1.0:0.0:0.0	.	432	Q9Y330	ZBT12_HUMAN	Q	432	ENSP00000364677:R432Q	ENSP00000364677:R432Q	R	-	2	0	ZBTB12	31975767	0.902000	0.30710	1.000000	0.80357	0.980000	0.70556	1.520000	0.35899	1.679000	0.50963	0.313000	0.20887	CGG		0.647	ZBTB12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076315.2	NM_181842		17	30	0	0	0	1	0	17	30					T	31867788	C	T	31867788	3	4	305	1	0	0	0	0	1	0	0	0	17522	652	23	2	88	2	ZBTB12	6	31867788	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	1194024	31867788	139247279	364	14881											
C2	717	broad.mit.edu	37	chr6	31896622	31896622	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtgaggatggcttcatattgCggggctcgcctgtgcgtcag	5	11	16	9	3	2	1	2	1	0	0	3	2	2	2	1	4	2	2	1	4	1	3	rs200459401		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr6:31896622C>T	ENST00000299367.5	+	3	646	c.370C>T	c.(370-372)Cgg>Tgg	p.R124W	C2_ENST00000442278.2_Intron|C2_ENST00000418949.2_Missense_Mutation_p.R124W|C2_ENST00000452323.2_Intron|CFB_ENST00000556679.1_Intron|CFB_ENST00000456570.1_Intron|C2_ENST00000469372.1_Intron|CFB_ENST00000477310.1_Missense_Mutation_p.R124W	NM_000063.4	NP_000054.2	P06681	CO2_HUMAN	complement component 2	124	Sushi 2. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)|positive regulation of apoptotic cell clearance (GO:2000427)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(1)|skin(2)|urinary_tract(2)	27		Ovarian(999;0.00965)		LUAD - Lung adenocarcinoma(999;0.247)		CTTCATATTGCGGGGCTCGCC	0.567													C|||	1	0.000199681	0	0	5008	,	,		18883	0		0.001	False		,,,				2504	0					ENST00000477310.1																			0				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|urinary_tract(1)	21						c.(370-372)Cgg>Tgg		complement factor B							110	93	99					6																	31896622		2203	4300	6503	SO:0001583	missense	629				complement activation, alternative pathway|proteolysis	extracellular region|plasma membrane	complement binding|serine-type endopeptidase activity	g.chr6:31896622C>T		CCDS4728.1, CCDS54991.1, CCDS56416.1, CCDS75427.1, CCDS75428.1	6p21.3	2014-09-17			ENSG00000166278	ENSG00000166278		"Complement system"	1248	protein-coding gene	gene with protein product		613927					Standard	NM_001145903		Approved		uc011hbs.1	P06681	OTTHUMG00000031190	ENST00000299367.5:c.370C>T	6.37:g.31896622C>T	ENSP00000299367:p.Arg124Trp					C2_ENST00000442278.2_Intron|C2_ENST00000469372.1_Intron|C2_ENST00000299367.5_Missense_Mutation_p.R124W|CFB_ENST00000456570.1_Intron|CFB_ENST00000556679.1_Intron|C2_ENST00000418949.2_Missense_Mutation_p.R124W|C2_ENST00000452323.2_Intron	p.R124W			P00751	CFAB_HUMAN			3	399	+			138			Sushi 2.		B4DPF3|B4DV20|E9PFN7|O19694|Q13904	Missense_Mutation	SNP	ENST00000299367.5	37	c.370C>T	CCDS4728.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	29.1	4.975738	0.92982	.	.	ENSG00000166278;ENSG00000166278;ENSG00000166278;ENSG00000244255	ENST00000413154;ENST00000299367;ENST00000418949;ENST00000477310	T;T;T;T	0.65732	-0.17;-0.17;-0.17;-0.17	5.6	5.6	0.85130	Complement control module (2);Sushi/SCR/CCP (3);	0.263285	0.20265	N	0.095784	T	0.76278	0.3965	.	.	.	0.80722	D	1	D;D;D	0.89917	1.0;0.988;1.0	D;P;D	0.79108	0.975;0.722;0.992	T	0.78687	-0.2107	9	0.87932	D	0	-19.0604	16.5139	0.84294	0.0:1.0:0.0:0.0	.	95;124;124	B4DV48;P06681;Q8N6L6	.;CO2_HUMAN;.	W	124	ENSP00000403325:R124W;ENSP00000299367:R124W;ENSP00000406190:R124W;ENSP00000418996:R124W	ENSP00000299367:R124W	R	+	1	2	C2;XXbac-BPG116M5.17	32004601	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	2.047000	0.41269	2.646000	0.89796	0.491000	0.48974	CGG		0.567	C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076379.9			27	71	0	0	0	1	0	27	71					T	31896622	C	T	31896622	3	4	305	1	0	0	0	0	1	0	0	0	2074	759	27	1	457	1	C2	6	31896622	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	28834	31896622	139218445	365	14882											
CFB	629	broad.mit.edu	37	chr6	31915745	31915745	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacaacagaagcggaagatcGtcctggacccttcaggctcc	12	6	10	13	2	1	2	1	0	0	2	4	4	3	4	3	3	3	1	3	3	4	1	rs200645483		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr6:31915745G>A	ENST00000425368.2	+	6	1297	c.784G>A	c.(784-786)Gtc>Atc	p.V262I	CFB_ENST00000556679.1_Missense_Mutation_p.V764I|CFB_ENST00000456570.1_Missense_Mutation_p.V764I|CFB_ENST00000497841.1_3'UTR|CFB_ENST00000477310.1_Missense_Mutation_p.V613I	NM_001710.5	NP_001701.2	P00751	CFAB_HUMAN	complement factor B	262					complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	complement binding (GO:0001848)|serine-type endopeptidase activity (GO:0004252)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|urinary_tract(1)	21						GCGGAAGATCGTCCTGGACCC	0.542																																						ENST00000456570.1																			0				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|urinary_tract(1)	21						c.(2290-2292)Gtc>Atc		complement factor B							118	126	123					6																	31915745		2203	4300	6503	SO:0001583	missense	629				complement activation, alternative pathway|proteolysis	extracellular region|plasma membrane	complement binding|serine-type endopeptidase activity	g.chr6:31915745G>A	L15702	CCDS4729.1	6p21.33	2014-09-17	2006-02-10	2006-02-10	ENSG00000243649	ENSG00000243649	3.4.21.47	"Complement system"	1037	protein-coding gene	gene with protein product		138470	"B-factor, properdin"	BFD, BF			Standard	NM_001710		Approved	H2-Bf	uc011dor.2	P00751	OTTHUMG00000031198	ENST00000425368.2:c.784G>A	6.37:g.31915745G>A	ENSP00000416561:p.Val262Ile					CFB_ENST00000477310.1_Missense_Mutation_p.V613I|CFB_ENST00000425368.2_Missense_Mutation_p.V262I|CFB_ENST00000556679.1_Missense_Mutation_p.V764I|CFB_ENST00000497841.1_3'UTR	p.V764I			P00751	CFAB_HUMAN			18	2345	+			262	L -> H (in Ref. 13; AAA36220).				B0QZQ6|O15006|Q29944|Q53F89|Q5JP67|Q5ST50|Q96HX6|Q9BTF5|Q9BX92	Missense_Mutation	SNP	ENST00000425368.2	37	c.2290G>A	CCDS4729.1	.	.	.	.	.	.	.	.	.	.	G	5.471	0.271869	0.10349	.	.	ENSG00000243649;ENSG00000243649;ENSG00000244255;ENSG00000244255	ENST00000556679;ENST00000425368;ENST00000456570;ENST00000477310	T;T;T;T	0.78126	-1.15;-1.15;-1.15;-1.15	5.03	-1.06	0.10002	.	0.620341	0.14273	N	0.330029	T	0.40372	0.1114	N	0.22421	0.69	0.18873	N	0.999988	B;B;B	0.25441	0.126;0.0;0.009	B;B;B	0.11329	0.006;0.0;0.002	T	0.17501	-1.0367	10	0.34782	T	0.22	-11.6521	11.4509	0.50151	0.4221:0.0:0.5779:0.0	.	764;262;262	B4E1Z4;P00751;P00751-2	.;CFAB_HUMAN;.	I	764;262;764;613	ENSP00000451848:V764I;ENSP00000416561:V262I;ENSP00000410815:V764I;ENSP00000418996:V613I	ENSP00000416561:V262I	V	+	1	0	CFB;XXbac-BPG116M5.17	32023724	0.000000	0.05858	0.301000	0.25044	0.032000	0.12392	-0.701000	0.05075	-0.762000	0.04664	-1.134000	0.01955	GTC		0.542	CFB-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000076395.3	NM_001710		30	71	0	0	0	1	0	30	71					A	31915745	G	A	31915745	3	1	305	1	0	0	0	0	1	0	0	0	3278	1145	40	1	806	1	CFB	6	31915745	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	19123	31915745	139199322	366	14883											
PRRT1	80863	broad.mit.edu	37	chr6	32118447	32118447	+	Frame_Shift_Del	DEL	G	G	-																															agggccgggaggggcgtggtGggggggcctcggcagcgtgg																										TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr6:32118447delG	ENST00000211413.5	-	2	380	c.256delC	c.(256-258)cacfs	p.H87fs	PPT2_ENST00000395523.1_5'Flank|PRRT1_ENST00000375150.2_Intron|PRRT1_ENST00000375152.2_Intron|PPT2_ENST00000361568.2_5'Flank|PRRT1_ENST00000467780.1_5'Flank	NM_030651.3	NP_085154.3	Q99946	PRRT1_HUMAN	proline-rich transmembrane protein 1	87					response to biotic stimulus (GO:0009607)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synapse (GO:0045202)				breast(2)|endometrium(1)|kidney(1)|lung(2)	6						GGGGCGTGGTGGGGGGGCCTC	0.756																																						ENST00000211413.5																			0				breast(2)|endometrium(1)|kidney(1)|lung(2)	6						c.(256-258)acfs		proline-rich transmembrane protein 1																																				SO:0001589	frameshift_variant	80863				response to biotic stimulus	integral to membrane		g.chr6:32118447delG	AK054885	CCDS4739.1	6p21.32	2011-10-10	2005-07-24	2005-07-24		ENSG00000204314		"Proline-rich transmembrane proteins"	13943	protein-coding gene	gene with protein product	"interferon induced transmembrane protein domain containing 7"		"chromosome 6 open reading frame 31"	C6orf31			Standard	XM_006715221		Approved	NG5, IFITMD7	uc003nzt.3	Q99946		ENST00000211413.5:c.256delC	6.37:g.32118447delG	ENSP00000211413:p.His87fs					PRRT1_ENST00000375150.2_Intron|PRRT1_ENST00000375152.2_Intron	p.H87fs	NM_030651.3	NP_085154.3	Q99946	PRRT1_HUMAN			2	380	-			87					A6ND08|A6ND40|B0S869|Q5SSW4|Q5SSX7|Q5STI1|Q96DW3|Q96NQ8	Frame_Shift_Del	DEL	ENST00000211413.5	37	c.256delC	CCDS4739.1																																																																																				0.756	PRRT1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076255.2	NM_030651		3	4						3	4	---	---	---	---	-	32118447	G	-	32118447	7	5	305	1	0	1	0	1	0	0	0	0	12609	1348	47	0	676	0	PRRT1	6	32118447	Frame_Shift_Del	DEL	G	TCGA-KK-A59V-01A-11D-A29Q-08	202702	32118447	138996620	367	14884											
TAP2	6891	broad.mit.edu	37	chr6	32805336	32805336	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccaaaggagaagaggcacaTgaagaagatggcactggcaa	17	3	14	7	0	0	5	0	1	0	4	0	6	0	5	1	4	0	3	1	4	5	0			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr6:32805336T>C	ENST00000452392.2	-	3	759	c.586A>G	c.(586-588)Atg>Gtg	p.M196V	TAP2_ENST00000374897.2_Missense_Mutation_p.M196V|TAP2_ENST00000374899.4_Missense_Mutation_p.M196V			Q9UDX4	S14L3_HUMAN	transporter 2, ATP-binding cassette, sub-family B (MDR/TAP)	0	CRAL-TRIO. {ECO:0000255|PROSITE- ProRule:PRU00056}.					extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)	lipid binding (GO:0008289)|transporter activity (GO:0005215)									Vitamin E(DB00163)	AAGAGGCACATGAAGAAGATG	0.493																																						ENST00000374897.2																			0											c.(586-588)Atg>Gtg		transporter 2, ATP-binding cassette, sub-family B (MDR/TAP)							86	74	78					6																	32805336		2203	4300	6503	SO:0001583	missense	6891				antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-dependent|antigen processing and presentation of endogenous peptide antigen via MHC class Ib via ER pathway, TAP-dependent|antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent|cytosol to ER transport|intracellular transport of viral proteins in host cell|peptide antigen transport|positive regulation of antigen processing and presentation of peptide antigen via MHC class I|positive regulation of T cell mediated cytotoxicity	nucleus|plasma membrane|TAP complex	ATP binding|MHC class I protein binding|oligopeptide-transporting ATPase activity|peptide antigen binding|peptide antigen-transporting ATPase activity|TAP1 binding|TAP2 binding|tapasin binding	g.chr6:32805336T>C	M74447	CCDS4755.1	6p21.3	2014-09-17			ENSG00000204267	ENSG00000204267		"ATP binding cassette transporters / subfamily B"	44	protein-coding gene	gene with protein product		170261		ABCB3		1529427, 1946428, 16395595	Standard	NM_001290043		Approved	PSF2, RING11, D6S217E	uc003ocd.3	Q03519	OTTHUMG00000031068	ENST00000452392.2:c.586A>G	6.37:g.32805336T>C	ENSP00000391806:p.Met196Val					TAP2_ENST00000374899.4_Missense_Mutation_p.M196V|TAP2_ENST00000452392.2_Missense_Mutation_p.M196V	p.M196V	NM_000544.3	NP_000535.3	Q03519	TAP2_HUMAN			3	717	-			196			ABC transmembrane type-1.		E7EN74|E9PE57|Q495V8|Q495W0|Q495W1	Missense_Mutation	SNP	ENST00000452392.2	37	c.586A>G		.	.	.	.	.	.	.	.	.	.	T	12.75	2.032017	0.35893	.	.	ENSG00000204267;ENSG00000204267;ENSG00000204267;ENSG00000250264	ENST00000556934;ENST00000374899;ENST00000374897;ENST00000452392	D;D;D	0.89343	-2.5;-2.5;-2.5	4.51	3.36	0.38483	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.739695	0.12906	N	0.429388	T	0.79868	0.4520	L	0.46819	1.47	0.47476	D	0.999437	B;B;B;B	0.31640	0.333;0.034;0.034;0.034	B;B;B;B	0.40329	0.326;0.038;0.038;0.038	T	0.71721	-0.4507	9	0.42905	T	0.14	-32.6723	8.0025	0.30306	0.0:0.0989:0.0:0.9011	.	196;197;196;196	E7ENX8;Q59H06;Q03519;Q9UP03	.;.;TAP2_HUMAN;.	V	196	ENSP00000364034:M196V;ENSP00000364032:M196V;ENSP00000391806:M196V	ENSP00000364032:M196V	M	-	1	0	XXbac-BPG246D15.9;TAP2	32913314	1.000000	0.71417	1.000000	0.80357	0.813000	0.45954	2.242000	0.43106	0.771000	0.33359	0.341000	0.21757	ATG		0.493	TAP2-001	NOVEL	mRNA_end_NF|cds_end_NF|basic|appris_principal|readthrough_transcript|exp_conf	protein_coding	protein_coding	OTTHUMT00000361828.1	NM_000544		15	21	0	0	0	1	0	15	21					C	32805336	T	C	32805336	3	2	305	1	0	0	0	0	1	0	0	0	15548	1464	51	4	1599	4	TAP2	6	32805336	Missense_Mutation	SNP	T	TCGA-KK-A59V-01A-11D-A29Q-08	686889	32805336	138309731	368	14885											
COL11A2	1302	broad.mit.edu	37	chr6	33137176	33137176	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tcacagggttccctttggggCcatcatcgcctgtggggcct	4	11	13	13	1	2	0	2	0	0	0	4	0	3	0	4	5	0	1	4	5	0	2			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr6:33137176C>T	ENST00000374708.4	-	49	3782	c.3524G>A	c.(3523-3525)gGc>gAc	p.G1175D	COL11A2_ENST00000374714.1_Missense_Mutation_p.G1235D|COL11A2_ENST00000357486.1_Missense_Mutation_p.G1240D|COL11A2_ENST00000341947.2_Missense_Mutation_p.G1261D|COL11A2_ENST00000477772.1_Intron|COL11A2_ENST00000395197.1_Missense_Mutation_p.G1201D|COL11A2_ENST00000374713.1_Missense_Mutation_p.G1214D|COL11A2_ENST00000361917.1_Missense_Mutation_p.G1154D|COL11A2_ENST00000374712.1_Missense_Mutation_p.G1180D	NM_080681.2	NP_542412.2	P13942	COBA2_HUMAN	collagen, type XI, alpha 2	1261	Triple-helical region.				cartilage development (GO:0051216)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|palate development (GO:0060021)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|soft palate development (GO:0060023)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)			biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						CCCTTTGGGGCCATCATCGCC	0.627																																					Melanoma(1;90 116 3946 5341 17093)	ENST00000341947.2																			0				biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						c.(3781-3783)gGc>gAc		collagen, type XI, alpha 2							44	40	41					6																	33137176		1510	2707	4217	SO:0001583	missense	1302				cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development	collagen type XI	extracellular matrix structural constituent conferring tensile strength|protein binding, bridging	g.chr6:33137176C>T	U32169	CCDS43452.1, CCDS54992.1	6p21.3	2013-01-16			ENSG00000204248	ENSG00000204248		"Collagens"	2187	protein-coding gene	gene with protein product		120290		DFNA13, DFNB53		7559422, 10581026	Standard	NM_080679		Approved	HKE5	uc003ocx.1	P13942	OTTHUMG00000031036	ENST00000374708.4:c.3524G>A	6.37:g.33137176C>T	ENSP00000363840:p.Gly1175Asp					COL11A2_ENST00000374714.1_Missense_Mutation_p.G1235D|COL11A2_ENST00000395197.1_Missense_Mutation_p.G1201D|COL11A2_ENST00000477772.1_Intron|COL11A2_ENST00000374712.1_Missense_Mutation_p.G1180D|COL11A2_ENST00000361917.1_Missense_Mutation_p.G1154D|COL11A2_ENST00000374713.1_Missense_Mutation_p.G1214D|COL11A2_ENST00000374708.4_Missense_Mutation_p.G1175D|COL11A2_ENST00000357486.1_Missense_Mutation_p.G1240D	p.G1261D	NM_080680.2	NP_542411.2	P13942	COBA2_HUMAN			51	4009	-			1261			Triple-helical region.		A6NLX2|E7ER90|Q07751|Q13271|Q13272|Q13273|Q5JP94|Q5SUI8|Q7Z6C3|Q99866|Q9UIP9	Missense_Mutation	SNP	ENST00000374708.4	37	c.3782G>A	CCDS43452.1	.	.	.	.	.	.	.	.	.	.	C	17.15	3.314910	0.60524	.	.	ENSG00000204248	ENST00000374708;ENST00000341947;ENST00000357486;ENST00000374714;ENST00000374713;ENST00000395197;ENST00000374712;ENST00000361917	D;D;D;D;D;D;D;D	0.99176	-5.52;-4.61;-4.61;-4.61;-5.52;-5.52;-5.52;-5.52	4.88	4.88	0.63580	.	0.000000	0.85682	D	0.000000	D	0.99539	0.9835	H	0.96239	3.79	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.998	D	0.98096	1.0412	10	0.87932	D	0	.	15.5774	0.76404	0.0:1.0:0.0:0.0	.	1154;1175;1261	P13942-8;P13942-6;P13942	.;.;COBA2_HUMAN	D	1175;1261;1240;1235;1214;1201;1180;1154	ENSP00000363840:G1175D;ENSP00000339915:G1261D;ENSP00000350079:G1240D;ENSP00000363846:G1235D;ENSP00000363845:G1214D;ENSP00000378623:G1201D;ENSP00000363844:G1180D;ENSP00000355123:G1154D	ENSP00000339915:G1261D	G	-	2	0	COL11A2	33245154	1.000000	0.71417	0.995000	0.50966	0.728000	0.41692	7.188000	0.77739	2.561000	0.86390	0.549000	0.68633	GGC		0.627	COL11A2-001	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000076032.2			9	44	0	0	0	1	0	9	44					T	33137176	C	T	33137176	3	4	305	1	0	0	0	0	1	0	0	0	3668	739	26	3	1492	3	COL11A2	6	33137176	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	331840	33137176	137977891	369	14886											
COL11A2	1302	broad.mit.edu	37	chr6	33157148	33157148	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgggcaggtcgtgccactcGgtaggccacatcagctggac	7	7	14	13	2	1	0	1	0	0	0	3	1	1	1	2	5	2	3	2	5	1	1			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr6:33157148G>A	ENST00000374708.4	-	2	439	c.181C>T	c.(181-183)Cga>Tga	p.R61*	COL11A2_ENST00000374714.1_Nonsense_Mutation_p.R61*|COL11A2_ENST00000357486.1_Nonsense_Mutation_p.R61*|COL11A2_ENST00000341947.2_Nonsense_Mutation_p.R61*|COL11A2_ENST00000395197.1_Nonsense_Mutation_p.R61*|COL11A2_ENST00000374713.1_Nonsense_Mutation_p.R61*|COL11A2_ENST00000395194.1_Nonsense_Mutation_p.R61*|COL11A2_ENST00000361917.1_Nonsense_Mutation_p.R61*|COL11A2_ENST00000374712.1_Nonsense_Mutation_p.R61*	NM_080681.2	NP_542412.2	P13942	COBA2_HUMAN	collagen, type XI, alpha 2	61	Laminin G-like.				cartilage development (GO:0051216)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|palate development (GO:0060021)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|soft palate development (GO:0060023)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)			biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						CGTGCCACTCGGTAGGCCACA	0.642																																					Melanoma(1;90 116 3946 5341 17093)	ENST00000341947.2																			0				biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						c.(181-183)Cga>Tga		collagen, type XI, alpha 2							80	66	71					6																	33157148		1511	2709	4220	SO:0001587	stop_gained	1302				cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development	collagen type XI	extracellular matrix structural constituent conferring tensile strength|protein binding, bridging	g.chr6:33157148G>A	U32169	CCDS43452.1, CCDS54992.1	6p21.3	2013-01-16			ENSG00000204248	ENSG00000204248		"Collagens"	2187	protein-coding gene	gene with protein product		120290		DFNA13, DFNB53		7559422, 10581026	Standard	NM_080679		Approved	HKE5	uc003ocx.1	P13942	OTTHUMG00000031036	ENST00000374708.4:c.181C>T	6.37:g.33157148G>A	ENSP00000363840:p.Arg61*					COL11A2_ENST00000374714.1_Nonsense_Mutation_p.R61*|COL11A2_ENST00000395197.1_Nonsense_Mutation_p.R61*|COL11A2_ENST00000374712.1_Nonsense_Mutation_p.R61*|COL11A2_ENST00000361917.1_Nonsense_Mutation_p.R61*|COL11A2_ENST00000374713.1_Nonsense_Mutation_p.R61*|COL11A2_ENST00000374708.4_Nonsense_Mutation_p.R61*|COL11A2_ENST00000395194.1_Nonsense_Mutation_p.R61*|COL11A2_ENST00000357486.1_Nonsense_Mutation_p.R61*	p.R61*	NM_080680.2	NP_542411.2	P13942	COBA2_HUMAN			2	408	-			61			TSP N-terminal.		A6NLX2|E7ER90|Q07751|Q13271|Q13272|Q13273|Q5JP94|Q5SUI8|Q7Z6C3|Q99866|Q9UIP9	Nonsense_Mutation	SNP	ENST00000374708.4	37	c.181C>T	CCDS43452.1	.	.	.	.	.	.	.	.	.	.	G	37	6.412050	0.97546	.	.	ENSG00000204248	ENST00000374708;ENST00000341947;ENST00000357486;ENST00000374714;ENST00000374713;ENST00000395197;ENST00000374712;ENST00000361917;ENST00000457788;ENST00000395194	.	.	.	4.19	3.29	0.37713	.	0.000000	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.278	0.37711	0.0:0.0:0.6087:0.3912	.	.	.	.	X	61	.	ENSP00000339915:R61X	R	-	1	2	COL11A2	33265126	0.908000	0.30866	1.000000	0.80357	0.973000	0.67179	-0.107000	0.10873	1.056000	0.40484	0.501000	0.49751	CGA		0.642	COL11A2-001	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000076032.2			5	77	0	0	0	1	0	5	77					A	33157148	G	A	33157148	4	1	305	1	0	0	0	0	0	1	0	0	3668	1124	39	2	5364	2	COL11A2	6	33157148	Nonsense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	19972	33157148	137957919	370	14887											
RING1	6015	broad.mit.edu	37	chr6	33177832	33177832	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaagaccgagtgcttatccGcctgagccgcctgcacaacc	9	7	9	16	3	1	2	1	1	0	1	2	3	2	2	6	0	4	2	6	0	3	1			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr6:33177832G>A	ENST00000374656.4	+	4	588	c.380G>A	c.(379-381)cGc>cAc	p.R127H	RING1_ENST00000478431.1_3'UTR|MIR219-1_ENST00000362166.1_RNA	NM_002931.3	NP_002922.2	Q06587	RING1_HUMAN	ring finger protein 1	127	Necessary for transcriptional repression. {ECO:0000250}.				anterior/posterior pattern specification (GO:0009952)|camera-type eye morphogenesis (GO:0048593)|histone H2A monoubiquitination (GO:0035518)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)|sex chromatin (GO:0001739)	chromatin binding (GO:0003682)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(5)|large_intestine(1)|lung(3)|ovary(2)|prostate(2)|skin(4)	17						GTGCTTATCCGCCTGAGCCGC	0.577																																						ENST00000374656.4																			0				endometrium(5)|large_intestine(1)|lung(3)|ovary(2)|prostate(2)|skin(4)	17						c.(379-381)cGc>cAc		ring finger protein 1							61	53	56					6																	33177832		2203	4300	6503	SO:0001583	missense	6015				histone H2A monoubiquitination|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nuclear speck|PcG protein complex	protein binding|zinc ion binding	g.chr6:33177832G>A		CCDS34424.1	6p21.3	2013-01-09			ENSG00000204227	ENSG00000204227		"RING-type (C3HC4) zinc fingers"	10018	protein-coding gene	gene with protein product		602045				1906426	Standard	NM_002931		Approved	RNF1	uc003odk.3	Q06587	OTTHUMG00000031278	ENST00000374656.4:c.380G>A	6.37:g.33177832G>A	ENSP00000363787:p.Arg127His					RING1_ENST00000478431.1_3'UTR	p.R127H	NM_002931.3	NP_002922.2	Q06587	RING1_HUMAN			4	588	+			127			Necessary for transcriptional repression (By similarity).		A8JZZ0|Q5JP96|Q5SQW2|Q86V19	Missense_Mutation	SNP	ENST00000374656.4	37	c.380G>A	CCDS34424.1	.	.	.	.	.	.	.	.	.	.	G	18.28	3.590155	0.66105	.	.	ENSG00000204227	ENST00000374656	D	0.84070	-1.8	4.37	2.57	0.30868	.	0.079635	0.47852	D	0.000202	T	0.77232	0.4100	L	0.54323	1.7	0.36450	D	0.865991	D	0.76494	0.999	P	0.61592	0.891	T	0.74719	-0.3570	10	0.35671	T	0.21	-14.5756	4.2969	0.10906	0.204:0.1918:0.6041:0.0	.	127	Q06587	RING1_HUMAN	H	127	ENSP00000363787:R127H	ENSP00000363787:R127H	R	+	2	0	RING1	33285810	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	3.030000	0.49720	0.479000	0.27511	0.542000	0.68232	CGC		0.577	RING1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076609.2			16	65	0	0	0	1	0	16	65					A	33177832	G	A	33177832	3	1	305	1	0	0	0	0	1	0	0	0	13374	1087	38	1	390	1	RING1	6	33177832	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	20684	33177832	137937235	371	14888											
UHRF1BP1	54887	broad.mit.edu	37	chr6	34824040	34824040	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagctgcaaacattgggtacGccactgtgaggccatggaga	11	8	13	9	1	0	2	0	1	0	1	0	3	0	2	2	3	4	3	2	3	3	3			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr6:34824040G>A	ENST00000192788.5	+	10	1316	c.1145G>A	c.(1144-1146)cGc>cAc	p.R382H	UHRF1BP1_ENST00000452449.2_Missense_Mutation_p.R382H	NM_017754.3	NP_060224.3	Q6BDS2	URFB1_HUMAN	UHRF1 binding protein 1	382							histone deacetylase binding (GO:0042826)|identical protein binding (GO:0042802)			breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(24)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	54						CATTGGGTACGCCACTGTGAG	0.468																																						ENST00000192788.5																			0				breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(24)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	54						c.(1144-1146)cGc>cAc		UHRF1 binding protein 1							130	137	135					6																	34824040		2050	4199	6249	SO:0001583	missense	54887							g.chr6:34824040G>A	AB126777	CCDS43455.1	6p21.31	2008-10-28	2008-08-15	2007-11-27	ENSG00000065060	ENSG00000065060			21216	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 107"	C6orf107			Standard	NM_017754		Approved	FLJ20302, dJ349A12.1, ICBP90	uc003oju.4	Q6BDS2	OTTHUMG00000014557	ENST00000192788.5:c.1145G>A	6.37:g.34824040G>A	ENSP00000192788:p.Arg382His					UHRF1BP1_ENST00000452449.2_Missense_Mutation_p.R382H	p.R382H	NM_017754.3	NP_060224.3	Q6BDS2	URFB1_HUMAN			10	1316	+			382					Q9NXE0	Missense_Mutation	SNP	ENST00000192788.5	37	c.1145G>A	CCDS43455.1	.	.	.	.	.	.	.	.	.	.	g	12.60	1.986111	0.35036	.	.	ENSG00000065060	ENST00000192788;ENST00000452449	T;T	0.08896	3.04;3.04	5.67	3.9	0.45041	.	0.127712	0.50627	N	0.000112	T	0.03827	0.0108	N	0.25890	0.77	0.47949	D	0.999551	D	0.64830	0.994	P	0.49683	0.619	T	0.53078	-0.8489	10	0.24483	T	0.36	-11.9209	11.1107	0.48230	0.1435:0.0:0.8565:0.0	.	382	Q6BDS2	URFB1_HUMAN	H	382	ENSP00000192788:R382H;ENSP00000400628:R382H	ENSP00000192788:R382H	R	+	2	0	UHRF1BP1	34932018	0.976000	0.34144	0.367000	0.25926	0.961000	0.63080	2.763000	0.47605	0.874000	0.35823	-0.119000	0.15052	CGC		0.468	UHRF1BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040260.1	NM_017754		49	160	0	0	0	1	0	49	160					A	34824040	G	A	34824040	3	1	305	1	0	0	0	0	1	0	0	0	16965	1087	38	1	1183	1	UHRF1BP1	6	34824040	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	1646208	34824040	136291027	372	14889											
SCUBE3	222663	broad.mit.edu	37	chr6	35200688	35200688	+	Frame_Shift_Del	DEL	G	G	-																															atttgccgggagacacccaaGgggggtattgcctgtgaatg																										TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr6:35200688delG	ENST00000274938.7	+	5	531	c.531delG	c.(529-531)aagfs	p.K177fs	SCUBE3_ENST00000394681.1_Frame_Shift_Del_p.K177fs	NM_152753.2	NP_689966.2			signal peptide, CUB domain, EGF-like 3											breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(12)|lung(11)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	37						AGACACCCAAGGGGGGTATTG	0.517																																						ENST00000274938.7																			0				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(12)|lung(11)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	37						c.(529-531)aafs		signal peptide, CUB domain, EGF-like 3							126	125	125					6																	35200688		2203	4300	6503	SO:0001589	frameshift_variant	222663				protein heterooligomerization|protein homooligomerization	cell surface|extracellular region	calcium ion binding|protein binding	g.chr6:35200688delG	AF452494.1	CCDS4800.1	6p21.3	2008-02-05	2004-05-19	2004-05-21		ENSG00000146197			13655	protein-coding gene	gene with protein product		614708	"CUB domain and EGF-like repeat containing 3"	CEGF3		12270931	Standard	NM_152753		Approved	FLJ34743	uc003okf.1	Q8IX30		ENST00000274938.7:c.531delG	6.37:g.35200688delG	ENSP00000274938:p.Lys177fs					SCUBE3_ENST00000394681.1_Frame_Shift_Del_p.K177fs	p.K177fs	NM_152753.2	NP_689966.2	Q8IX30	SCUB3_HUMAN			5	531	+			177			EGF-like 4.			Frame_Shift_Del	DEL	ENST00000274938.7	37	c.531delG	CCDS4800.1																																																																																				0.517	SCUBE3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040275.1	NM_152753		36	134						36	134	---	---	---	---	-	35200688	G	-	35200688	7	5	305	1	0	1	0	1	0	0	0	0	13946	991	35	0	549	0	SCUBE3	6	35200688	Frame_Shift_Del	DEL	G	TCGA-KK-A59V-01A-11D-A29Q-08	376648	35200688	135914379	373	14890											
CDKN1A	1026	broad.mit.edu	37	chr6	36651973	36651973	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggacagcgagcagctgagccGcgactgtgatgcgctaatgg	9	6	16	10	4	0	2	0	2	0	0	0	5	0	3	1	2	5	3	1	2	1	1			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr6:36651973G>A	ENST00000405375.1	+	2	330	c.95G>A	c.(94-96)cGc>cAc	p.R32H	CDKN1A_ENST00000478800.1_3'UTR|CDKN1A_ENST00000448526.2_Missense_Mutation_p.R66H|CDKN1A_ENST00000244741.5_Missense_Mutation_p.R32H|CDKN1A_ENST00000373711.2_Missense_Mutation_p.R32H	NM_001220778.1	NP_001207707.1	P38936	CDN1A_HUMAN	cyclin-dependent kinase inhibitor 1A (p21, Cip1)	32					cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to extracellular stimulus (GO:0031668)|cellular response to ionizing radiation (GO:0071479)|cellular senescence (GO:0090398)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle (GO:0000278)|mitotic cell cycle arrest (GO:0071850)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of gene expression (GO:0010629)|negative regulation of phosphorylation (GO:0042326)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ regeneration (GO:0031100)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of programmed cell death (GO:0043068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|protein phosphorylation (GO:0006468)|Ras protein signal transduction (GO:0007265)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of DNA biosynthetic process (GO:2000278)|regulation of protein import into nucleus, translocation (GO:0033158)|response to arsenic-containing substance (GO:0046685)|response to corticosterone (GO:0051412)|response to drug (GO:0042493)|response to hyperoxia (GO:0055093)|response to organonitrogen compound (GO:0010243)|response to toxic substance (GO:0009636)|response to UV (GO:0009411)|stress-induced premature senescence (GO:0090400)	cyclin-dependent protein kinase holoenzyme complex (GO:0000307)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PCNA-p21 complex (GO:0070557)	cyclin-dependent protein kinase activating kinase activity (GO:0019912)|cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|metal ion binding (GO:0046872)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|urinary_tract(5)	15						CAGCTGAGCCGCGACTGTGAT	0.652																																						ENST00000405375.1																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|urinary_tract(5)	15						c.(94-96)cGc>cAc		cyclin-dependent kinase inhibitor 1A (p21, Cip1)							40	37	38					6																	36651973		2203	4300	6503	SO:0001583	missense	1026				cell cycle arrest|cellular response to extracellular stimulus|cellular response to ionizing radiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|induction of apoptosis by intracellular signals|negative regulation of cell growth|negative regulation of cell proliferation|positive regulation of fibroblast proliferation|positive regulation of reactive oxygen species metabolic process|Ras protein signal transduction|S phase of mitotic cell cycle|stress-induced premature senescence	cyclin-dependent protein kinase holoenzyme complex|cytosol|nucleoplasm|PCNA-p21 complex	cyclin-dependent protein kinase activating kinase activity|cyclin-dependent protein kinase inhibitor activity|metal ion binding	g.chr6:36651973G>A	U03106	CCDS4824.1	6p21.1	2009-01-21			ENSG00000124762	ENSG00000124762			1784	protein-coding gene	gene with protein product		116899		CDKN1			Standard	NM_000389		Approved	P21, CIP1, WAF1, SDI1, CAP20, p21CIP1, p21Cip1/Waf1	uc021yzb.1	P38936	OTTHUMG00000014603	ENST00000405375.1:c.95G>A	6.37:g.36651973G>A	ENSP00000384849:p.Arg32His					CDKN1A_ENST00000244741.5_Missense_Mutation_p.R32H|CDKN1A_ENST00000478800.1_3'UTR|CDKN1A_ENST00000373711.2_Missense_Mutation_p.R32H|CDKN1A_ENST00000448526.2_Missense_Mutation_p.R66H	p.R32H	NM_001220778.1	NP_001207707.1	P38936	CDN1A_HUMAN			2	330	+			32					Q14010|Q6FI05|Q9BUT4	Missense_Mutation	SNP	ENST00000405375.1	37	c.95G>A	CCDS4824.1	.	.	.	.	.	.	.	.	.	.	G	12.79	2.043609	0.36085	.	.	ENSG00000124762	ENST00000448526;ENST00000244741;ENST00000405375;ENST00000373711	D;D;D;D	0.84730	-1.89;-1.89;-1.89;-1.89	5.06	3.14	0.36123	.	0.293065	0.25285	N	0.031780	D	0.84862	0.5566	M	0.70275	2.135	0.25663	N	0.985977	D;D;D	0.89917	1.0;0.998;0.986	D;P;P	0.67900	0.954;0.863;0.594	T	0.76105	-0.3081	10	0.62326	D	0.03	-10.5929	6.2764	0.20983	0.2247:0.0:0.7753:0.0	.	66;32;32	B4DQP9;P38936;Q96LE1	.;CDN1A_HUMAN;.	H	66;32;32;32	ENSP00000409259:R66H;ENSP00000244741:R32H;ENSP00000384849:R32H;ENSP00000362815:R32H	ENSP00000244741:R32H	R	+	2	0	CDKN1A	36759951	0.564000	0.26602	0.281000	0.24762	0.063000	0.16089	0.698000	0.25571	1.379000	0.46325	0.561000	0.74099	CGC		0.652	CDKN1A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040354.1	NM_078467		17	41	0	0	0	1	0	17	41					A	36651973	G	A	36651973	3	1	305	1	0	0	0	0	1	0	0	0	3158	1087	38	1	97	1	CDKN1A	6	36651973	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	1451285	36651973	134463094	374	14891											
GLO1	2739	broad.mit.edu	37	chr6	38652182	38652182	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agtgtagcttttctggagagCgcccaggctattttttcatc	7	15	10	9	1	2	1	1	0	1	1	3	2	2	1	1	2	2	3	1	2	2	7	rs182114911		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr6:38652182C>T	ENST00000373365.4	-	3	362	c.276G>A	c.(274-276)gcG>gcA	p.A92A	GLO1_ENST00000470973.1_5'Flank	NM_006708.2	NP_006699.2	Q04760	LGUL_HUMAN	glyoxalase I	92					carbohydrate metabolic process (GO:0005975)|glutathione metabolic process (GO:0006749)|methylglyoxal metabolic process (GO:0009438)|negative regulation of apoptotic process (GO:0043066)|osteoclast differentiation (GO:0030316)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	lactoylglutathione lyase activity (GO:0004462)|zinc ion binding (GO:0008270)			lung(2)|ovary(2)|prostate(1)|urinary_tract(1)	6					Glutathione(DB00143)|Indomethacin(DB00328)	TTCTGGAGAGCGCCCAGGCTA	0.303													C|||	1	0.000199681	0	0.0014	5008	,	,		12628	0		0	False		,,,				2504	0					ENST00000373365.4																			0				lung(2)|ovary(2)|prostate(1)|urinary_tract(1)	6						c.(274-276)gcG>gcA		glyoxalase I	Glutathione(DB00143)						65	60	62					6																	38652182		2202	4298	6500	SO:0001819	synonymous_variant	2739				anti-apoptosis|carbohydrate metabolic process	cytoplasm	lactoylglutathione lyase activity|metal ion binding	g.chr6:38652182C>T	L07837	CCDS4837.1	6p21.3-p21.1	2012-10-02			ENSG00000124767	ENSG00000124767	4.4.1.5		4323	protein-coding gene	gene with protein product	"glyoxalase domain containing 1"	138750				8449929, 7684374	Standard	NM_006708		Approved	GLOD1	uc003ooc.3	Q04760	OTTHUMG00000014636	ENST00000373365.4:c.276G>A	6.37:g.38652182C>T							p.A92A	NM_006708.2	NP_006699.2	Q04760	LGUL_HUMAN			3	362	-			92					B2R6P7|B4DDV0|P78375|Q59EL0|Q5TZW3|Q96FC0|Q96J41	Silent	SNP	ENST00000373365.4	37	c.276G>A	CCDS4837.1																																																																																				0.303	GLO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040438.2	NM_006708		7	18	0	0	0	1	0	7	18					T	38652182	C	T	38652182	2	4	305	1	0	0	0	0	0	0	0	1	6449	755	27	1		1	GLO1	6	38652182	Silent	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	2000209	38652182	132462885	375	14892											
NFYA	4800	broad.mit.edu	37	chr6	41062195	41062195	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaagcgtggtgaaggtggaCgatttttctctccaaaggaa	11	10	14	6	2	1	1	0	1	1	0	3	5	2	4	1	5	1	0	1	5	4	2			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr6:41062195C>T	ENST00000341376.6	+	9	1150	c.949C>T	c.(949-951)Cga>Tga	p.R317*	NFYA_ENST00000353205.5_Nonsense_Mutation_p.R288*|OARD1_ENST00000480585.1_Intron	NM_002505.4	NP_002496.1	P23511	NFYA_HUMAN	nuclear transcription factor Y, alpha	317					cellular lipid metabolic process (GO:0044255)|positive regulation of stem cell proliferation (GO:2000648)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of stem cell maintenance (GO:2000036)|regulation of transcription, DNA-templated (GO:0006355)|rhythmic process (GO:0048511)|small molecule metabolic process (GO:0044281)|transcription from RNA polymerase II promoter (GO:0006366)	CCAAT-binding factor complex (GO:0016602)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(1)|endometrium(1)|large_intestine(4)|lung(2)|urinary_tract(1)	9	Ovarian(28;0.0418)|Colorectal(47;0.196)					TGAAGGTGGACGATTTTTCTC	0.388																																						ENST00000341376.6																			0				cervix(1)|endometrium(1)|large_intestine(4)|lung(2)|urinary_tract(1)	9						c.(949-951)Cga>Tga		nuclear transcription factor Y, alpha							113	109	110					6																	41062195		2203	4300	6503	SO:0001587	stop_gained	4800				transcription from RNA polymerase II promoter	CCAAT-binding factor complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr6:41062195C>T		CCDS4849.1, CCDS4850.1	6p21.3	2008-11-11			ENSG00000001167	ENSG00000001167			7804	protein-coding gene	gene with protein product		189903				1774067, 9612081	Standard	NM_002505		Approved	HAP2, CBF-B, NF-YA	uc003opo.3	P23511	OTTHUMG00000014669	ENST00000341376.6:c.949C>T	6.37:g.41062195C>T	ENSP00000345702:p.Arg317*					OARD1_ENST00000480585.1_Intron|NFYA_ENST00000353205.5_Nonsense_Mutation_p.R288*	p.R317*	NM_002505.4	NP_002496.1	P23511	NFYA_HUMAN			9	1150	+	Ovarian(28;0.0418)|Colorectal(47;0.196)		317					Q8IXU0	Nonsense_Mutation	SNP	ENST00000341376.6	37	c.949C>T	CCDS4849.1	.	.	.	.	.	.	.	.	.	.	C	39	7.346182	0.98228	.	.	ENSG00000001167	ENST00000341376;ENST00000353205	.	.	.	5.58	3.62	0.41486	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-17.1747	13.5496	0.61723	0.2823:0.7177:0.0:0.0	.	.	.	.	X	317;288	.	ENSP00000345702:R317X	R	+	1	2	NFYA	41170173	0.998000	0.40836	0.999000	0.59377	0.999000	0.98932	3.788000	0.55446	1.423000	0.47198	0.655000	0.94253	CGA		0.388	NFYA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040496.1			3	49	0	0	0	1	0	3	49					T	41062195	C	T	41062195	4	4	305	1	0	0	0	0	0	1	0	0	10389	528	19	1	979	1	NFYA	6	41062195	Nonsense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	2410013	41062195	130052872	376	14893											
BYSL	705	broad.mit.edu	37	chr6	41900303	41900303	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttggtccagcgctacaaggcCgacttggccacagaccagaa	11	6	11	13	2	0	2	0	0	0	2	1	3	1	2	4	3	2	1	4	3	3	3			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr6:41900303C>T	ENST00000230340.4	+	7	1548	c.1173C>T	c.(1171-1173)gcC>gcT	p.A391A		NM_004053.3	NP_004044.3	Q13895	BYST_HUMAN	bystin-like	391					cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|female pregnancy (GO:0007565)|maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000462)|trophectodermal cell differentiation (GO:0001829)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(5)|skin(1)	8	Colorectal(47;0.121)		STAD - Stomach adenocarcinoma(11;0.000204)|Epithelial(12;0.000473)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			GCTACAAGGCCGACTTGGCCA	0.592																																						ENST00000230340.4																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(5)|skin(1)	8						c.(1171-1173)gcC>gcT		bystin-like							93	93	93					6																	41900303		2203	4300	6503	SO:0001819	synonymous_variant	705				cell adhesion|female pregnancy|ribosome biogenesis	cytoplasm|nucleolus		g.chr6:41900303C>T	L36720	CCDS34450.1	6p21.1	2008-08-29			ENSG00000112578	ENSG00000112578			1157	protein-coding gene	gene with protein product		603871				9925933, 17381424	Standard	NM_004053		Approved		uc003orl.3	Q13895	OTTHUMG00000014687	ENST00000230340.4:c.1173C>T	6.37:g.41900303C>T							p.A391A	NM_004053.3	NP_004044.3	Q13895	BYST_HUMAN	STAD - Stomach adenocarcinoma(11;0.000204)|Epithelial(12;0.000473)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)		7	1548	+	Colorectal(47;0.121)		391					Q6P5W4|Q86W44|Q96IP8	Silent	SNP	ENST00000230340.4	37	c.1173C>T	CCDS34450.1																																																																																				0.592	BYSL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040535.2			44	106	0	0	0	1	0	44	106					T	41900303	C	T	41900303	2	4	305	1	0	0	0	0	0	0	0	1	1576	639	23	2		2	BYSL	6	41900303	Silent	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	838108	41900303	129214764	377	14894											
MRPL2	51069	broad.mit.edu	37	chr6	43024050	43024050	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acatcccaaacttgcctacaGggatcatagcggacttggat	12	9	9	11	1	1	0	1	0	0	0	2	3	2	3	2	3	4	0	2	3	3	4			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr6:43024050G>T	ENST00000388752.3	-	3	823	c.399C>A	c.(397-399)ccC>ccA	p.P133P	CUL7_ENST00000265348.3_5'Flank|MRPL2_ENST00000230413.5_Silent_p.P133P|CUL7_ENST00000535468.1_5'Flank|MRPL2_ENST00000489623.1_Intron	NM_015950.3	NP_057034.2	Q5T653	RM02_HUMAN	mitochondrial ribosomal protein L2	133					translation (GO:0006412)	mitochondrion (GO:0005739)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			breast(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(2)	9		Ovarian(999;0.0014)	Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|all cancers(41;0.00708)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)	BRCA - Breast invasive adenocarcinoma(397;0.0026)		CTTGCCTACAGGGATCATAGC	0.493																																						ENST00000388752.3																			0				breast(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(2)	9						c.(397-399)ccC>ccA		mitochondrial ribosomal protein L2							134	119	124					6																	43024050		2203	4300	6503	SO:0001819	synonymous_variant	51069				translation	mitochondrion|ribosome	structural constituent of ribosome	g.chr6:43024050G>T	AB051617	CCDS34454.1, CCDS75458.1	6p21.3	2012-09-13			ENSG00000112651	ENSG00000112651		"Mitochondrial ribosomal proteins / large subunits"	14056	protein-coding gene	gene with protein product		611822					Standard	XM_005249161		Approved	MRP-L14, RPML14, CGI-22	uc003ots.1	Q5T653	OTTHUMG00000014719	ENST00000388752.3:c.399C>A	6.37:g.43024050G>T						MRPL2_ENST00000230413.5_Silent_p.P133P|MRPL2_ENST00000489623.1_Intron	p.P133P	NM_015950.3	NP_057034.2	Q5T653	RM02_HUMAN	Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|all cancers(41;0.00708)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)	BRCA - Breast invasive adenocarcinoma(397;0.0026)	3	823	-		Ovarian(999;0.0014)	133					B2RC56|Q8WUL1|Q96Q56|Q9Y311	Silent	SNP	ENST00000388752.3	37	c.399C>A	CCDS34454.1																																																																																				0.493	MRPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040577.2			20	62	1	0	0.00121646	1	0.00123356	20	62					T	43024050	G	T	43024050	2	4	305	1	0	0	0	0	0	0	0	1	9785	987	35	5		5	MRPL2	6	43024050	Silent	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	1123747	43024050	128091017	378	14895											
PTK7	5754	broad.mit.edu	37	chr6	43099822	43099822	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gctgacccaggtccggccacGcaatgcagggatctaccgct	8	6	12	15	3	1	1	0	1	1	0	2	2	2	2	4	3	2	4	4	3	2	1			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr6:43099822G>A	ENST00000230419.4	+	6	1102	c.881G>A	c.(880-882)cGc>cAc	p.R294H	PTK7_ENST00000345201.2_Missense_Mutation_p.R294H|PTK7_ENST00000352931.2_Missense_Mutation_p.R294H|PTK7_ENST00000481273.1_Missense_Mutation_p.R302H|PTK7_ENST00000471863.1_Missense_Mutation_p.R294H|PTK7_ENST00000349241.2_Missense_Mutation_p.R294H	NM_002821.4	NP_002812.2	Q13308	PTK7_HUMAN	protein tyrosine kinase 7	294	Ig-like C2-type 3.				actin cytoskeleton reorganization (GO:0031532)|axis elongation (GO:0003401)|canonical Wnt signaling pathway (GO:0060070)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cellular response to retinoic acid (GO:0071300)|cochlea morphogenesis (GO:0090103)|convergent extension (GO:0060026)|establishment of epithelial cell apical/basal polarity (GO:0045198)|establishment of planar polarity (GO:0001736)|lung-associated mesenchyme development (GO:0060484)|neural tube closure (GO:0001843)|peptidyl-tyrosine phosphorylation (GO:0018108)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of neuron projection development (GO:0010976)|signal transduction (GO:0007165)|wound healing (GO:0042060)	cell-cell junction (GO:0005911)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(12)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00784)|OV - Ovarian serous cystadenocarcinoma(102;0.0423)			GTCCGGCCACGCAATGCAGGG	0.622																																						ENST00000230419.4																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(12)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						c.(880-882)cGc>cAc		protein tyrosine kinase 7							49	50	50					6																	43099822		2203	4300	6503	SO:0001583	missense	0				actin cytoskeleton reorganization|canonical Wnt receptor signaling pathway|cell adhesion|cell migration	cell-cell junction|integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr6:43099822G>A	AF447176	CCDS4884.1, CCDS4885.1, CCDS4886.1, CCDS4887.1, CCDS59021.1	6p21.1-p12.2	2013-02-18	2013-02-18		ENSG00000112655	ENSG00000112655	2.7.10.1	"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	9618	protein-coding gene	gene with protein product		601890	"PTK7 protein tyrosine kinase 7"			7478540	Standard	NM_002821		Approved	CCK4	uc011dve.2	Q13308	OTTHUMG00000014721	ENST00000230419.4:c.881G>A	6.37:g.43099822G>A	ENSP00000230419:p.Arg294His					PTK7_ENST00000349241.2_Missense_Mutation_p.R294H|PTK7_ENST00000345201.2_Missense_Mutation_p.R294H|PTK7_ENST00000481273.1_Missense_Mutation_p.R302H|PTK7_ENST00000471863.1_Missense_Mutation_p.R294H|PTK7_ENST00000352931.2_Missense_Mutation_p.R294H	p.R294H	NM_002821.4	NP_002812.2	Q13308	PTK7_HUMAN	Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00784)|OV - Ovarian serous cystadenocarcinoma(102;0.0423)		6	1102	+			294			Ig-like C2-type 3.		A8K974|B7Z477|E9PFZ5|Q13417|Q5T650|Q6IQ54|Q8NFA5|Q8NFA6|Q8NFA7|Q8NFA8	Missense_Mutation	SNP	ENST00000230419.4	37	c.881G>A	CCDS4884.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.200363	0.79015	.	.	ENSG00000112655	ENST00000230419;ENST00000471863;ENST00000349241;ENST00000352931;ENST00000345201;ENST00000481273;ENST00000419972;ENST00000481946	T;T;T;T;T;T;T	0.74632	4.76;4.76;4.76;-0.86;-0.86;4.76;4.76	5.64	5.64	0.86602	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.84051	0.5387	M	0.71581	2.175	0.80722	D	1	P;D;D;D;D;P	0.89917	0.948;1.0;1.0;1.0;1.0;0.95	P;D;D;D;D;P	0.87578	0.608;0.998;0.997;0.998;0.993;0.765	D	0.85003	0.0901	10	0.72032	D	0.01	.	18.7019	0.91623	0.0:0.0:1.0:0.0	.	302;294;294;294;294;294	E9PFZ5;Q13308-3;Q13308-2;Q13308-4;Q13308;Q86X91	.;.;.;.;PTK7_HUMAN;.	H	294;294;294;294;294;302;302;47	ENSP00000230419:R294H;ENSP00000419037:R294H;ENSP00000325462:R294H;ENSP00000326029:R294H;ENSP00000325992:R294H;ENSP00000418754:R302H;ENSP00000420165:R47H	ENSP00000230418:R294H	R	+	2	0	PTK7	43207800	1.000000	0.71417	0.999000	0.59377	0.988000	0.76386	6.265000	0.72534	2.655000	0.90218	0.462000	0.41574	CGC		0.622	PTK7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040580.2			14	48	0	0	0	1	0	14	48					A	43099822	G	A	43099822	3	1	305	1	0	0	0	0	1	0	0	0	12765	1087	38	1	903	1	PTK7	6	43099822	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	75772	43099822	128015245	379	14896											
CAPN11	11131	broad.mit.edu	37	chr6	44141052	44141052	+	Frame_Shift_Del	DEL	C	C	-																															agagcttccaactccagaggCcccctcagaacctgctcagg																										TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr6:44141052delC	ENST00000398776.1	+	7	798	c.760delC	c.(760-762)cccfs	p.P255fs	CAPN11_ENST00000542245.1_Frame_Shift_Del_p.P255fs	NM_007058.3	NP_008989.2	Q9UMQ6	CAN11_HUMAN	calpain 11	255	Calpain catalytic. {ECO:0000255|PROSITE- ProRule:PRU00239}.				proteolysis (GO:0006508)	acrosomal vesicle (GO:0001669)|cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|peptidase activity (GO:0008233)	p.P254S(1)		breast(3)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)	36	all_cancers(18;3.19e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			ACTCCAGAGGCCCCCTCAGAA	0.597											OREG0017466	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000542245.1																			1	Substitution - Missense(1)	p.P254S(1)	prostate(1)	breast(3)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)	36						c.(760-762)ccfs		calpain 11							46	50	49					6																	44141052		1938	4124	6062	SO:0001589	frameshift_variant	11131				proteolysis	acrosomal vesicle	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity	g.chr6:44141052delC	AJ242832	CCDS47436.1	6p12	2013-01-10			ENSG00000137225	ENSG00000137225		"EF-hand domain containing"	1478	protein-coding gene	gene with protein product		604822				10409436	Standard	NM_007058		Approved		uc003owt.1	Q9UMQ6	OTTHUMG00000014758	ENST00000398776.1:c.760delC	6.37:g.44141052delC	ENSP00000381758:p.Pro255fs		OREG0017466	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	921	CAPN11_ENST00000398776.1_Frame_Shift_Del_p.P255fs	p.P255fs			Q9UMQ6	CAN11_HUMAN	Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		7	798	+	all_cancers(18;3.19e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		255			Calpain catalytic.		B2RA64|Q5T3G1|Q8N4R5	Frame_Shift_Del	DEL	ENST00000398776.1	37	c.760delC	CCDS47436.1																																																																																				0.597	CAPN11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040714.3			7	78						7	78	---	---	---	---	-	44141052	C	-	44141052	7	5	305	1	0	1	0	1	0	0	0	0	2624	739	26	0	786	0	CAPN11	6	44141052	Frame_Shift_Del	DEL	C	TCGA-KK-A59V-01A-11D-A29Q-08	1041230	44141052	126974015	380	14897											
SLC29A1	2030	broad.mit.edu	37	chr6	44199798	44199798	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccattgggatgtttccagccGtgactgttgaggtcaagtcc	7	12	12	10	1	1	2	1	2	0	0	3	3	3	3	4	2	1	2	4	2	1	3	rs190729620		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr6:44199798G>A	ENST00000393841.1	+	11	1419	c.928G>A	c.(928-930)Gtg>Atg	p.V310M	SLC29A1_ENST00000371731.1_Missense_Mutation_p.V310M|SLC29A1_ENST00000393844.1_Missense_Mutation_p.V310M|SLC29A1_ENST00000472176.1_3'UTR|SLC29A1_ENST00000371755.3_Missense_Mutation_p.V310M|SLC29A1_ENST00000371740.5_Missense_Mutation_p.V310M|SLC29A1_ENST00000313248.7_Missense_Mutation_p.V389M|SLC29A1_ENST00000371713.1_Missense_Mutation_p.V310M|SLC29A1_ENST00000371708.1_Missense_Mutation_p.V310M|SLC29A1_ENST00000371724.1_Missense_Mutation_p.V310M|SLC29A1_ENST00000427851.2_Missense_Mutation_p.V310M	NM_001078177.1	NP_001071645.1	Q99808	S29A1_HUMAN	solute carrier family 29 (equilibrative nucleoside transporter), member 1	310					cellular response to glucose stimulus (GO:0071333)|cellular response to hypoxia (GO:0071456)|lactation (GO:0007595)|nucleobase-containing compound metabolic process (GO:0006139)|nucleoside transmembrane transport (GO:1901642)|nucleoside transport (GO:0015858)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|sleep (GO:0030431)|transmembrane transport (GO:0055085)|uridine transport (GO:0015862)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	nucleoside transmembrane transporter activity (GO:0005337)			endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|skin(2)	17	all_cancers(18;3.19e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		Cytarabine(DB00987)|Didanosine(DB00900)|Fludarabine(DB01073)|Fluorouracil(DB00544)|Gemcitabine(DB00441)|Mercaptopurine(DB01033)|Pemetrexed(DB00642)|Ribavirin(DB00811)|Zalcitabine(DB00943)	GTTTCCAGCCGTGACTGTTGA	0.527													G|||	1	0.000199681	8e-04	0	5008	,	,		21811	0		0	False		,,,				2504	0					ENST00000393841.1																			0				endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|skin(2)	17						c.(928-930)Gtg>Atg		solute carrier family 29 (equilibrative nucleoside transporter), member 1	Troglitazone(DB00197)						136	115	122					6																	44199798		2203	4300	6503	SO:0001583	missense	2030				nucleobase, nucleoside and nucleotide metabolic process	apical plasma membrane|basolateral plasma membrane|integral to plasma membrane|membrane fraction	nucleoside transmembrane transporter activity|protein binding	g.chr6:44199798G>A	U81375	CCDS4908.1	6p21.1	2013-07-17	2013-07-17		ENSG00000112759	ENSG00000112759		"Solute carriers"	11003	protein-coding gene	gene with protein product		602193	"solute carrier family 29 (nucleoside transporters), member 1"	ENT1		8986748, 9344680	Standard	NM_004955		Approved		uc003owy.2	Q99808	OTTHUMG00000014759	ENST00000393841.1:c.928G>A	6.37:g.44199798G>A	ENSP00000377424:p.Val310Met					SLC29A1_ENST00000427851.2_Missense_Mutation_p.V310M|SLC29A1_ENST00000472176.1_3'UTR|SLC29A1_ENST00000371740.5_Missense_Mutation_p.V310M|SLC29A1_ENST00000393844.1_Missense_Mutation_p.V310M|SLC29A1_ENST00000371713.1_Missense_Mutation_p.V310M|SLC29A1_ENST00000371724.1_Missense_Mutation_p.V310M|SLC29A1_ENST00000313248.7_Missense_Mutation_p.V389M|SLC29A1_ENST00000371755.3_Missense_Mutation_p.V310M|SLC29A1_ENST00000371708.1_Missense_Mutation_p.V310M|SLC29A1_ENST00000371731.1_Missense_Mutation_p.V310M	p.V310M	NM_001078177.1	NP_001071645.1	Q99808	S29A1_HUMAN	Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		11	1419	+	all_cancers(18;3.19e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		310					B3KQV7|B3KQY5|Q5T9W9|Q9UJY2	Missense_Mutation	SNP	ENST00000393841.1	37	c.928G>A	CCDS4908.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	19.26	3.792858	0.70452	.	.	ENSG00000112759	ENST00000393844;ENST00000313248;ENST00000427851;ENST00000371755;ENST00000371740;ENST00000371731;ENST00000393841;ENST00000371724;ENST00000371713;ENST00000371708	D;D;D;D;D;D;D;D;D;D	0.81579	-1.51;-1.51;-1.51;-1.51;-1.51;-1.51;-1.51;-1.51;-1.51;-1.51	5.53	4.65	0.58169	.	0.222920	0.36409	N	0.002620	D	0.88328	0.6407	M	0.88031	2.925	0.58432	D	0.999995	D;D	0.89917	1.0;1.0	D;D	0.78314	0.991;0.979	D	0.89463	0.3738	10	0.87932	D	0	12.4848	10.3713	0.44055	0.1516:0.0:0.8484:0.0	.	389;310	B3KQV7;Q99808	.;S29A1_HUMAN	M	310;389;310;310;310;310;310;310;310;310	ENSP00000377427:V310M;ENSP00000319152:V389M;ENSP00000392668:V310M;ENSP00000360820:V310M;ENSP00000360805:V310M;ENSP00000360796:V310M;ENSP00000377424:V310M;ENSP00000360789:V310M;ENSP00000360778:V310M;ENSP00000360773:V310M	ENSP00000319152:V389M	V	+	1	0	SLC29A1	44307776	1.000000	0.71417	0.150000	0.22450	0.888000	0.51559	4.255000	0.58804	2.624000	0.88883	0.557000	0.71058	GTG		0.527	SLC29A1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040721.1			15	31	0	0	0	1	0	15	31					A	44199798	G	A	44199798	3	1	305	1	0	0	0	0	1	0	0	0	14534	1145	40	1	962	1	SLC29A1	6	44199798	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	58746	44199798	126915269	381	14898											
GPR111	222611	broad.mit.edu	37	chr6	47649198	47649198	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	accaccatatctggagataaCattggaaaaaatttcacttt	16	12	5	8	0	2	1	1	0	1	1	2	3	2	2	2	2	1	0	2	2	5	5			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr6:47649198C>T	ENST00000296862.1	+	6	903	c.903C>T	c.(901-903)aaC>aaT	p.N301N	GPR111_ENST00000398742.2_Silent_p.N233N|GPR111_ENST00000507065.1_Silent_p.N233N			Q8IZF7	GP111_HUMAN	G protein-coupled receptor 111	301					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(2)|lung(15)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29						CTGGAGATAACATTGGAAAAA	0.388																																						ENST00000398742.2																			0				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(2)|lung(15)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29						c.(697-699)aaC>aaT		G protein-coupled receptor 111							121	114	116					6																	47649198		1879	4117	5996	SO:0001819	synonymous_variant	222611				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr6:47649198C>T	AB065684		6p12.3	2014-08-08			ENSG00000164393	ENSG00000164393		"-", "GPCR / Class B : Orphans"	18991	protein-coding gene	gene with protein product						12435584	Standard	NM_153839		Approved	hGPCR35, PGR20	uc003oyy.3	Q8IZF7	OTTHUMG00000046168	ENST00000296862.1:c.903C>T	6.37:g.47649198C>T						GPR111_ENST00000507065.1_Silent_p.N233N|GPR111_ENST00000296862.1_Silent_p.N301N	p.N233N			Q8IZF7	GP111_HUMAN			5	748	+			301					Q2PNZ1|Q86SL6|Q8NGU5|Q8TDT5	Silent	SNP	ENST00000296862.1	37	c.699C>T																																																																																					0.388	GPR111-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000106423.2	NM_153839		33	82	0	0	0	1	0	33	82					T	47649198	C	T	47649198	2	4	305	1	0	0	0	0	0	0	0	1	6628	477	17	3		3	GPR111	6	47649198	Silent	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	3449400	47649198	123465869	382	14899											
MUT	4594	broad.mit.edu	37	chr6	49425735	49425735	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatcatagccacgatgtgtcGccagatcaaaggcaactgat	14	8	9	10	2	2	2	2	1	0	1	3	3	2	2	2	1	2	1	2	1	4	1	rs565348836		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr6:49425735G>A	ENST00000274813.3	-	3	549	c.422C>T	c.(421-423)gCg>gTg	p.A141V		NM_000255.3	NP_000246.2	P22033	MUTA_HUMAN	methylmalonyl CoA mutase	141					cellular lipid metabolic process (GO:0044255)|cobalamin metabolic process (GO:0009235)|fatty acid beta-oxidation (GO:0006635)|homocysteine metabolic process (GO:0050667)|post-embryonic development (GO:0009791)|short-chain fatty acid catabolic process (GO:0019626)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	cobalamin binding (GO:0031419)|metal ion binding (GO:0046872)|methylmalonyl-CoA mutase activity (GO:0004494)|modified amino acid binding (GO:0072341)			endometrium(2)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	30	Lung NSC(77;0.0376)				Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	ACGATGTGTCGCCAGATCAAA	0.388																																						ENST00000274813.3																			0				endometrium(2)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	30						c.(421-423)gCg>gTg		methylmalonyl CoA mutase	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)						61	61	61					6																	49425735		2203	4300	6503	SO:0001583	missense	4594				fatty acid beta-oxidation	mitochondrial matrix	cobalamin binding|metal ion binding|methylmalonyl-CoA mutase activity	g.chr6:49425735G>A		CCDS4924.1	6p21	2012-10-02	2010-04-30		ENSG00000146085	ENSG00000146085	5.4.99.2		7526	protein-coding gene	gene with protein product		609058	"methylmalonyl Coenzyme A mutase"			2907507, 9503014	Standard	NM_000255		Approved		uc003ozg.4	P22033	OTTHUMG00000014814	ENST00000274813.3:c.422C>T	6.37:g.49425735G>A	ENSP00000274813:p.Ala141Val						p.A141V	NM_000255.3	NP_000246.2	P22033	MUTA_HUMAN			3	549	-	Lung NSC(77;0.0376)		141					A8K953|Q5SYZ3|Q96B11|Q9UD64	Missense_Mutation	SNP	ENST00000274813.3	37	c.422C>T	CCDS4924.1	.	.	.	.	.	.	.	.	.	.	G	28.9	4.956719	0.92726	.	.	ENSG00000146085	ENST00000274813	D	0.99042	-5.36	5.21	5.21	0.72293	Cobalamin (vitamin B12)-dependent enzyme, catalytic (1);Cobalamin (vitamin B12)-dependent enzyme, catalytic subdomain (1);Methylmalonyl-CoA mutase, alpha/beta chain, catalytic (1);Methylmalonyl-CoA mutase, alpha chain, catalytic (1);	0.053759	0.64402	D	0.000001	D	0.99013	0.9663	L	0.56396	1.775	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	D	0.99916	1.1224	10	0.87932	D	0	-20.9463	18.0895	0.89469	0.0:0.0:1.0:0.0	.	141	P22033	MUTA_HUMAN	V	141	ENSP00000274813:A141V	ENSP00000274813:A141V	A	-	2	0	MUT	49533694	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.358000	0.97109	2.576000	0.86940	0.491000	0.48974	GCG		0.388	MUT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040854.1			22	39	0	0	0	1	0	22	39					A	49425735	G	A	49425735	3	1	305	1	0	0	0	0	1	0	0	0	9991	1087	38	1	1874	1	MUT	6	49425735	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	1776537	49425735	121689332	383	14900											
BMP5	653	broad.mit.edu	37	chr6	55638931	55638931	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgtttgttggctgctctcaCggatcgaagaagtacctcac	8	12	10	11	3	2	1	2	0	1	1	5	3	2	2	1	2	2	5	1	2	3	3			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr6:55638931C>T	ENST00000370830.3	-	4	1641	c.943G>A	c.(943-945)Gtg>Atg	p.V315M	BMP5_ENST00000446683.2_Missense_Mutation_p.V315M	NM_021073.2	NP_066551.1	P22003	BMP5_HUMAN	bone morphogenetic protein 5	315					cartilage development (GO:0051216)|growth (GO:0040007)|male genitalia development (GO:0030539)|negative regulation of aldosterone biosynthetic process (GO:0032348)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cortisol biosynthetic process (GO:2000065)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of insulin-like growth factor receptor signaling pathway (GO:0043569)|negative regulation of mononuclear cell migration (GO:0071676)|negative regulation of steroid biosynthetic process (GO:0010894)|ossification (GO:0001503)|pattern specification process (GO:0007389)|positive regulation of dendrite development (GO:1900006)|positive regulation of DNA-dependent DNA replication (GO:2000105)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal system development (GO:0001501)|type B pancreatic cell development (GO:0003323)	extracellular space (GO:0005615)|membrane-bounded vesicle (GO:0031988)	BMP receptor binding (GO:0070700)			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	45	Lung NSC(77;0.0462)		LUSC - Lung squamous cell carcinoma(124;0.181)			GCTGCTCTCACGGATCGAAGA	0.468																																						ENST00000370830.3																			0				cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	45						c.(943-945)Gtg>Atg		bone morphogenetic protein 5							213	182	193					6																	55638931		2203	4300	6503	SO:0001583	missense	653				cartilage development|cell differentiation|growth|ossification	extracellular space	BMP receptor binding|cytokine activity|growth factor activity	g.chr6:55638931C>T		CCDS4958.1	6p12.1	2014-01-30			ENSG00000112175	ENSG00000112175		"Bone morphogenetic proteins", "Endogenous ligands"	1072	protein-coding gene	gene with protein product		112265				1427904, 11580864	Standard	NM_021073		Approved		uc003pcq.3	P22003	OTTHUMG00000014903	ENST00000370830.3:c.943G>A	6.37:g.55638931C>T	ENSP00000359866:p.Val315Met					BMP5_ENST00000446683.2_Missense_Mutation_p.V315M	p.V315M	NM_021073.2	NP_066551.1	P22003	BMP5_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.181)		4	1641	-	Lung NSC(77;0.0462)		315					B4E0Y4|Q9H547|Q9NTM5	Missense_Mutation	SNP	ENST00000370830.3	37	c.943G>A	CCDS4958.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.330819	0.81690	.	.	ENSG00000112175	ENST00000370830;ENST00000446683	T;T	0.72942	-0.7;-0.3	5.74	4.88	0.63580	.	0.053556	0.64402	D	0.000001	T	0.56307	0.1976	N	0.08118	0	0.80722	D	1	D;D	0.69078	0.997;0.997	P;P	0.59487	0.858;0.765	T	0.68085	-0.5502	10	0.49607	T	0.09	.	14.9595	0.71144	0.0:0.9313:0.0:0.0687	.	315;315	B4E0Y4;P22003	.;BMP5_HUMAN	M	315	ENSP00000359866:V315M;ENSP00000391818:V315M	ENSP00000359866:V315M	V	-	1	0	BMP5	55746890	1.000000	0.71417	0.933000	0.37362	0.960000	0.62799	5.757000	0.68766	1.423000	0.47198	0.655000	0.94253	GTG		0.468	BMP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041000.1			32	108	0	0	0	1	0	32	108					T	55638931	C	T	55638931	3	4	305	1	0	0	0	0	1	0	0	0	1463	536	19	1	437	1	BMP5	6	55638931	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	6213196	55638931	115476136	384	14901											
COL9A1	1297	broad.mit.edu	37	chr6	70991121	70991121	+	Frame_Shift_Del	DEL	G	G	-																															catcgatgcctggaactccaGgggggcccggaggcccggga																										TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr6:70991121delG	ENST00000357250.6	-	8	1006	c.848delC	c.(847-849)cctfs	p.P283fs	COL9A1_ENST00000320755.7_Frame_Shift_Del_p.P40fs|COL9A1_ENST00000370496.3_Frame_Shift_Del_p.P283fs|COL9A1_ENST00000489611.1_5'Flank|COL9A1_ENST00000370499.4_Frame_Shift_Del_p.P40fs	NM_001851.4	NP_001842.3	P20849	CO9A1_HUMAN	collagen, type IX, alpha 1	283	Collagen-like 1.|Triple-helical region (COL3).				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|growth plate cartilage development (GO:0003417)|organ morphogenesis (GO:0009887)|tissue homeostasis (GO:0001894)	collagen type IX trimer (GO:0005594)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)|metal ion binding (GO:0046872)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(44)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)	80						TGGAACTCCAGGGGGGCCCGG	0.592																																						ENST00000357250.6																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(44)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)	80						c.(847-849)ctfs		collagen, type IX, alpha 1							23	27	26					6																	70991121		2203	4300	6503	SO:0001589	frameshift_variant	1297				axon guidance|cell adhesion|organ morphogenesis	collagen type IX	metal ion binding	g.chr6:70991121delG		CCDS4971.1, CCDS47447.1	6q13	2013-05-07			ENSG00000112280	ENSG00000112280		"Proteoglycans / Extracellular Matrix : Collagen proteoglycans", "Collagens"	2217	protein-coding gene	gene with protein product		120210				1429648	Standard	NM_001851		Approved		uc003pfg.4	P20849	OTTHUMG00000014988	ENST00000357250.6:c.848delC	6.37:g.70991121delG	ENSP00000349790:p.Pro283fs					COL9A1_ENST00000370496.3_Frame_Shift_Del_p.P283fs|COL9A1_ENST00000320755.7_Frame_Shift_Del_p.P40fs|COL9A1_ENST00000370499.4_Frame_Shift_Del_p.P40fs	p.P283fs	NM_001851.4	NP_001842.3	P20849	CO9A1_HUMAN			8	1006	-			283			Triple-helical region (COL3).		Q13699|Q13700|Q5TF52|Q6P467|Q96BM8|Q99225|Q9H151|Q9H152|Q9Y6P2|Q9Y6P3	Frame_Shift_Del	DEL	ENST00000357250.6	37	c.848delC	CCDS4971.1																																																																																				0.592	COL9A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041131.2			10	50						10	50	---	---	---	---	-	70991121	G	-	70991121	7	5	305	1	0	1	0	1	0	0	0	0	3707	1000	35	0	2041	0	COL9A1	6	70991121	Frame_Shift_Del	DEL	G	TCGA-KK-A59V-01A-11D-A29Q-08	15352190	70991121	100123946	385	14902											
LCA5	167691	broad.mit.edu	37	chr6	80223398	80223398	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctctattgaggctctgggagCgaaatcccactcggactccc	8	9	10	14	2	2	1	0	1	2	0	5	4	4	3	2	3	1	1	2	3	2	2	rs572580888		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr6:80223398C>T	ENST00000392959.1	-	4	862	c.251G>A	c.(250-252)cGc>cAc	p.R84H	LCA5_ENST00000369846.4_Missense_Mutation_p.R84H|LCA5_ENST00000467898.3_Missense_Mutation_p.R84H	NM_181714.3	NP_859065.2	Q86VQ0	LCA5_HUMAN	Leber congenital amaurosis 5	84					intraciliary transport (GO:0042073)|photoreceptor cell maintenance (GO:0045494)|protein transport (GO:0015031)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	protein complex binding (GO:0032403)	p.R84H(1)		haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(15)|prostate(2)|skin(1)	32		all_cancers(76;3.32e-05)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.0176)		BRCA - Breast invasive adenocarcinoma(397;0.0657)		GCTCTGGGAGCGAAATCCCAC	0.438													C|||	1	0.000199681	0	0	5008	,	,		17070	0.001		0	False		,,,				2504	0					ENST00000392959.1																			1	Substitution - Missense(1)	p.R84H(1)	lung(1)	haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(15)|prostate(2)|skin(1)	32						c.(250-252)cGc>cAc		Leber congenital amaurosis 5							168	180	176					6																	80223398		2203	4299	6502	SO:0001583	missense	167691				protein transport	cilium axoneme|microtubule basal body	protein binding	g.chr6:80223398C>T		CCDS4990.1	6q14	2014-01-28			ENSG00000135338	ENSG00000135338			31923	protein-coding gene	gene with protein product	"lebercilin"	611408	"chromosome 6 open reading frame 152"	C6orf152		10631161, 17546029	Standard	NM_181714		Approved		uc003pix.3	Q86VQ0	OTTHUMG00000015080	ENST00000392959.1:c.251G>A	6.37:g.80223398C>T	ENSP00000376686:p.Arg84His					LCA5_ENST00000369846.4_Missense_Mutation_p.R84H|LCA5_ENST00000467898.2_Missense_Mutation_p.R84H	p.R84H	NM_181714.3	NP_859065.2	Q86VQ0	LCA5_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.0657)	4	862	-		all_cancers(76;3.32e-05)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.0176)	84					E1P542|Q9BWX7	Missense_Mutation	SNP	ENST00000392959.1	37	c.251G>A	CCDS4990.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.324394	0.81580	.	.	ENSG00000135338	ENST00000369846;ENST00000392959	T;T	0.46063	0.88;0.88	5.77	4.0	0.46444	.	0.053991	0.85682	N	0.000000	T	0.50803	0.1637	M	0.68593	2.085	0.48975	D	0.999733	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.57406	-0.7817	10	0.87932	D	0	-1.3587	11.9268	0.52825	0.0:0.8594:0.0:0.1406	.	84;84	B4DRL2;Q86VQ0	.;LCA5_HUMAN	H	84	ENSP00000358861:R84H;ENSP00000376686:R84H	ENSP00000358861:R84H	R	-	2	0	LCA5	80280117	0.988000	0.35896	0.993000	0.49108	0.981000	0.71138	2.801000	0.47908	0.900000	0.36469	0.655000	0.94253	CGC		0.438	LCA5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259269.1	NM_181714		73	210	0	0	0	1	0	73	210					T	80223398	C	T	80223398	3	4	305	1	0	0	0	0	1	0	0	0	8656	768	27	1	1866	1	LCA5	6	80223398	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	9232277	80223398	90891669	386	14903											
TTK	7272	broad.mit.edu	37	chr6	80720539	80720539	+	Frame_Shift_Del	DEL	A	A	-																															ttgctttgttaggtaatgtcAaaaaaagtaaacaacttctt																										TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr6:80720539delA	ENST00000369798.2	+	5	589	c.478delA	c.(478-480)aaafs	p.K161fs	TTK_ENST00000230510.3_Frame_Shift_Del_p.K161fs|TTK_ENST00000509894.1_Frame_Shift_Del_p.K161fs	NM_001166691.1|NM_003318.4	NP_001160163.1|NP_003309.2	P33981	TTK_HUMAN	TTK protein kinase	161					chromosome separation (GO:0051304)|mitotic spindle assembly checkpoint (GO:0007094)|mitotic spindle organization (GO:0007052)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|spindle organization (GO:0007051)	membrane (GO:0016020)|spindle (GO:0005819)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)			endometrium(4)|kidney(2)|large_intestine(12)|lung(22)|ovary(7)|pancreas(1)|prostate(1)|stomach(3)|urinary_tract(1)	53		all_cancers(76;0.00177)|Acute lymphoblastic leukemia(125;1.24e-05)|all_hematologic(105;0.00223)|all_epithelial(107;0.2)		BRCA - Breast invasive adenocarcinoma(397;0.0321)		AGGTAATGTCAAAAAAAGTAA	0.383																																						ENST00000509894.1																			0				endometrium(4)|kidney(2)|large_intestine(12)|lung(22)|ovary(7)|pancreas(1)|prostate(1)|stomach(3)|urinary_tract(1)	53						c.(478-480)aafs		TTK protein kinase							43	46	45					6																	80720539		2202	4300	6502	SO:0001589	frameshift_variant	7272				mitotic cell cycle spindle assembly checkpoint|mitotic spindle organization|positive regulation of cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation	spindle	ATP binding|identical protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr6:80720539delA		CCDS4993.1, CCDS55040.1	6q14.1	2014-04-07			ENSG00000112742	ENSG00000112742			12401	protein-coding gene	gene with protein product	"cancer/testis antigen 96", "monopolar spindle 1 kinase"	604092				1639825	Standard	NM_003318		Approved	MPS1, MPS1L1, CT96, MPH1	uc003pjc.3	P33981	OTTHUMG00000015088	ENST00000369798.2:c.478delA	6.37:g.80720539delA	ENSP00000358813:p.Lys161fs					TTK_ENST00000369798.2_Frame_Shift_Del_p.K161fs|TTK_ENST00000230510.3_Frame_Shift_Del_p.K161fs	p.K161fs			P33981	TTK_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.0321)	5	1307	+		all_cancers(76;0.00177)|Acute lymphoblastic leukemia(125;1.24e-05)|all_hematologic(105;0.00223)|all_epithelial(107;0.2)	161					A8K8U5|B2RDW2|E1P543|Q15272|Q5TCS0|Q9BW51|Q9NTM0	Frame_Shift_Del	DEL	ENST00000369798.2	37	c.478delA	CCDS4993.1																																																																																				0.383	TTK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041316.2			11	39						11	39	---	---	---	---	-	80720539	A	-	80720539	7	5	305	1	0	1	0	1	0	0	0	0	16717	131	5	0	492	0	TTK	6	80720539	Frame_Shift_Del	DEL	A	TCGA-KK-A59V-01A-11D-A29Q-08	497141	80720539	90394528	387	14904											
DOPEY1	23033	broad.mit.edu	37	chr6	83810593	83810593	+	Frame_Shift_Del	DEL	T	T	-																															taagcgacttgccaaagatcTttttttatataggtaagaat																										TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr6:83810593delT	ENST00000349129.2	+	4	568	c.308delT	c.(307-309)cttfs	p.L103fs	DOPEY1_ENST00000237163.5_Frame_Shift_Del_p.L103fs|DOPEY1_ENST00000369739.3_Frame_Shift_Del_p.L103fs|DOPEY1_ENST00000536812.1_Frame_Shift_Del_p.L103fs	NM_015018.3	NP_055833.2	Q5JWR5	DOP1_HUMAN	dopey family member 1	103					protein transport (GO:0015031)					breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	67		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)		BRCA - Breast invasive adenocarcinoma(397;0.053)		GCCAAAGATCTTTTTTTATAT	0.284																																						ENST00000349129.2																			0				breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	67						c.(307-309)ctfs		dopey family member 1							74	84	81					6																	83810593		2201	4299	6500	SO:0001589	frameshift_variant	23033				protein transport			g.chr6:83810593delT	AK027030	CCDS4996.1, CCDS64467.1	6q15	2013-03-05	2006-02-02	2006-02-02	ENSG00000083097	ENSG00000083097			21194	protein-coding gene	gene with protein product			"KIAA1117"	KIAA1117		16301316, 16303751, 10931277	Standard	NM_015018		Approved	dJ202D23.2	uc011dyy.2	Q5JWR5	OTTHUMG00000016365	ENST00000349129.2:c.308delT	6.37:g.83810593delT	ENSP00000195654:p.Leu103fs					DOPEY1_ENST00000237163.5_Frame_Shift_Del_p.L103fs|DOPEY1_ENST00000536812.1_Frame_Shift_Del_p.L103fs|DOPEY1_ENST00000369739.3_Frame_Shift_Del_p.L103fs	p.L103fs	NM_015018.3	NP_055833.2	Q5JWR5	DOP1_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.053)	4	568	+		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)	103					Q86XV1|Q9H5J5|Q9NSL4|Q9UPN5|Q9Y414	Frame_Shift_Del	DEL	ENST00000349129.2	37	c.308delT	CCDS4996.1																																																																																				0.284	DOPEY1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043785.2	NM_015018		48	150						48	150	---	---	---	---	-	83810593	T	-	83810593	7	5	305	1	0	1	0	1	0	0	0	0	4707	1609	56	0	314	0	DOPEY1	6	83810593	Frame_Shift_Del	DEL	T	TCGA-KK-A59V-01A-11D-A29Q-08	3090054	83810593	87304474	388	14905											
KIAA1009	22832	broad.mit.edu	37	chr6	84884584	84884584	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atttgctcaattagggcttgCgcacccctccatttatcctc	7	14	6	14	1	1	0	1	0	0	0	4	0	3	0	4	1	2	3	4	1	3	5			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr6:84884584C>T	ENST00000403245.3	-	15	2001	c.1887G>A	c.(1885-1887)gcG>gcA	p.A629A	KIAA1009_ENST00000257766.4_Silent_p.A553A|KIAA1009_ENST00000461137.1_5'UTR	NM_014895.2	NP_055710.2												p.A629A(1)		breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	43		all_cancers(76;1.5e-06)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00258)		BRCA - Breast invasive adenocarcinoma(397;0.089)		TTAGGGCTTGCGCACCCCTCC	0.373																																						ENST00000403245.3																			1	Substitution - coding silent(1)	p.A629A(1)	lung(1)	breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	43						c.(1885-1887)gcG>gcA		KIAA1009							86	74	78					6																	84884584		2203	4300	6503	SO:0001819	synonymous_variant	22832				cell division|mitosis	centrosome|nucleus|plasma membrane|spindle	protein binding	g.chr6:84884584C>T																												ENST00000403245.3:c.1887G>A	6.37:g.84884584C>T						KIAA1009_ENST00000257766.4_Silent_p.A553A|KIAA1009_ENST00000461137.1_5'UTR	p.A629A	NM_014895.2	NP_055710.2	Q5TB80	QN1_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.089)	15	2001	-		all_cancers(76;1.5e-06)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00258)	629						Silent	SNP	ENST00000403245.3	37	c.1887G>A	CCDS34494.2																																																																																				0.373	KIAA1009-004	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317315.1			7	24	0	0	0	1	0	7	24					T	84884584	C	T	84884584	2	4	305	1	0	0	0	0	0	0	0	1	8203	755	27	1		1	KIAA1009	6	84884584	Silent	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	1073991	84884584	86230483	389	14906											
MAP3K7	6885	broad.mit.edu	37	chr6	91261842	91261842	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aggatctttagaccaacaacGagtcatcaggctctcaatgg	13	9	9	10	1	4	1	3	0	2	1	5	3	4	2	1	3	2	1	1	3	4	2			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr6:91261842G>A	ENST00000369329.3	-	8	954	c.793C>T	c.(793-795)Cgt>Tgt	p.R265C	MAP3K7_ENST00000369325.3_Missense_Mutation_p.R265C|MAP3K7_ENST00000369320.1_5'UTR|MAP3K7_ENST00000369327.3_Missense_Mutation_p.R265C|MAP3K7_ENST00000369332.3_Missense_Mutation_p.R265C	NM_145331.2	NP_663304.1	O43318	M3K7_HUMAN	mitogen-activated protein kinase kinase kinase 7	265	Interaction with MAPK8IP1. {ECO:0000250}.|Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|activation of NF-kappaB-inducing kinase activity (GO:0007250)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|Fc-epsilon receptor signaling pathway (GO:0038095)|histone H3 acetylation (GO:0043966)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|I-kappaB phosphorylation (GO:0007252)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of ripoptosome assembly involved in necroptotic process (GO:1902443)|neural tube formation (GO:0001841)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell cytokine production (GO:0002726)|regulation of reactive oxygen species metabolic process (GO:2000377)|stress-activated MAPK cascade (GO:0051403)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome membrane (GO:0010008)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|MAP kinase kinase activity (GO:0004708)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|scaffold protein binding (GO:0097110)			endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	28		all_cancers(76;6.4e-08)|Acute lymphoblastic leukemia(125;1.43e-09)|Prostate(29;9.32e-09)|all_hematologic(105;3.69e-06)|all_epithelial(107;0.000187)|Ovarian(999;0.0164)		OV - Ovarian serous cystadenocarcinoma(136;2.05e-11)|all cancers(137;3.25e-11)|GBM - Glioblastoma multiforme(226;0.0416)|BRCA - Breast invasive adenocarcinoma(108;0.0429)		GACCAACAACGAGTCATCAGG	0.428																																						ENST00000369329.3																			0				endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	28						c.(793-795)Cgt>Tgt		mitogen-activated protein kinase kinase kinase 7							129	126	127					6																	91261842		2203	4300	6503	SO:0001583	missense	6885				activation of MAPK activity|activation of NF-kappaB-inducing kinase activity|histone H3 acetylation|I-kappaB phosphorylation|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-2 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of T cell cytokine production|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transforming growth factor beta receptor signaling pathway	Ada2/Gcn5/Ada3 transcription activator complex|cytosol|endosome membrane	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein binding	g.chr6:91261842G>A	AB009356	CCDS5027.1, CCDS5028.1, CCDS5029.1, CCDS5030.1	6q15	2011-06-09			ENSG00000135341	ENSG00000135341		"Mitogen-activated protein kinase cascade / Kinase kinase kinases"	6859	protein-coding gene	gene with protein product		602614		TAK1		9466656	Standard	NM_003188		Approved	MEKK7	uc003pnz.2	O43318	OTTHUMG00000015217	ENST00000369329.3:c.793C>T	6.37:g.91261842G>A	ENSP00000358335:p.Arg265Cys					MAP3K7_ENST00000369320.1_5'UTR|MAP3K7_ENST00000369332.3_Missense_Mutation_p.R265C|MAP3K7_ENST00000369325.3_Missense_Mutation_p.R265C|MAP3K7_ENST00000369327.3_Missense_Mutation_p.R265C	p.R265C	NM_145331.2	NP_663304.1	O43318	M3K7_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;2.05e-11)|all cancers(137;3.25e-11)|GBM - Glioblastoma multiforme(226;0.0416)|BRCA - Breast invasive adenocarcinoma(108;0.0429)	8	954	-		all_cancers(76;6.4e-08)|Acute lymphoblastic leukemia(125;1.43e-09)|Prostate(29;9.32e-09)|all_hematologic(105;3.69e-06)|all_epithelial(107;0.000187)|Ovarian(999;0.0164)	265			Protein kinase.		B2RE27|E1P523|O43317|O43319|Q5TDN2|Q5TDN3|Q5TDT7|Q9NTR3|Q9NZ70	Missense_Mutation	SNP	ENST00000369329.3	37	c.793C>T	CCDS5028.1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.463565	0.84425	.	.	ENSG00000135341	ENST00000369332;ENST00000369329;ENST00000369325;ENST00000369327;ENST00000450832	D;D;D;D	0.83419	-1.72;-1.72;-1.72;-1.72	5.76	4.85	0.62838	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.044791	0.85682	D	0.000000	D	0.88994	0.6589	M	0.72353	2.195	0.80722	D	1	D;D;D;D	0.89917	0.967;0.994;1.0;0.973	B;P;D;P	0.72625	0.392;0.708;0.978;0.624	D	0.89347	0.3658	10	0.87932	D	0	.	16.7852	0.85572	0.0:0.0:0.8709:0.1291	.	265;265;265;265	O43318-4;O43318-2;O43318-3;O43318	.;.;.;M3K7_HUMAN	C	265;265;265;265;192	ENSP00000358338:R265C;ENSP00000358335:R265C;ENSP00000358331:R265C;ENSP00000358333:R265C	ENSP00000358331:R265C	R	-	1	0	MAP3K7	91318563	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.585000	0.82584	2.880000	0.98712	0.650000	0.86243	CGT		0.428	MAP3K7-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041530.1	NM_145331		19	53	0	0	0	1	0	19	53					A	91261842	G	A	91261842	3	1	305	1	0	0	0	0	1	0	0	0	9255	1058	37	2	1067	2	MAP3K7	6	91261842	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	6377258	91261842	79853225	390	14907											
FHL5	9457	broad.mit.edu	37	chr6	97058503	97058503	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gctatggcataaagagtgttTtctgtgtagtggctgtagga	9	14	14	4	0	1	1	0	0	1	1	1	2	1	2	0	3	0	6	0	3	5	6			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr6:97058503T>C	ENST00000326771.2	+	6	940	c.560T>C	c.(559-561)tTt>tCt	p.F187S	FHL5_ENST00000541107.1_Missense_Mutation_p.F187S	NM_020482.4	NP_065228.4	Q5TD97	FHL5_HUMAN	four and a half LIM domains 5	187	LIM zinc-binding 3. {ECO:0000255|PROSITE- ProRule:PRU00125}.				positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(2)|urinary_tract(1)	27		all_cancers(76;1.57e-07)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00266)|Colorectal(196;0.0341)|Lung NSC(302;0.204)		BRCA - Breast invasive adenocarcinoma(108;0.0948)		AAAGAGTGTTTTCTGTGTAGT	0.448																																						ENST00000326771.2																			0				endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(2)|urinary_tract(1)	27						c.(559-561)tTt>tCt		four and a half LIM domains 5							289	264	273					6																	97058503		2203	4300	6503	SO:0001583	missense	9457					nucleus	zinc ion binding	g.chr6:97058503T>C	AF278541	CCDS5035.1	6q16.1-q16.3	2008-02-05			ENSG00000112214	ENSG00000112214			17371	protein-coding gene	gene with protein product		605126					Standard	NM_020482		Approved	FLJ33049, ACT, dJ393D12.2	uc003pot.2	Q5TD97	OTTHUMG00000015239	ENST00000326771.2:c.560T>C	6.37:g.97058503T>C	ENSP00000326022:p.Phe187Ser					FHL5_ENST00000541107.1_Missense_Mutation_p.F187S	p.F187S	NM_020482.4	NP_065228.4	Q5TD97	FHL5_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0948)	6	940	+		all_cancers(76;1.57e-07)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00266)|Colorectal(196;0.0341)|Lung NSC(302;0.204)	187			LIM zinc-binding 3.		B2RBD1|E1P526|Q5TD98|Q8WW21|Q9NQU2	Missense_Mutation	SNP	ENST00000326771.2	37	c.560T>C	CCDS5035.1	.	.	.	.	.	.	.	.	.	.	T	27.7	4.857330	0.91433	.	.	ENSG00000112214	ENST00000541107;ENST00000326771;ENST00000450218	D;D;D	0.94000	-3.33;-3.33;-3.33	5.64	5.64	0.86602	Zinc finger, LIM-type (5);	0.000000	0.43110	D	0.000618	D	0.98595	0.9530	H	0.99951	5.03	0.80722	D	1	D	0.71674	0.998	D	0.75484	0.986	D	0.99453	1.0941	10	0.87932	D	0	.	15.8597	0.79012	0.0:0.0:0.0:1.0	.	187	Q5TD97	FHL5_HUMAN	S	187	ENSP00000442357:F187S;ENSP00000326022:F187S;ENSP00000396390:F187S	ENSP00000326022:F187S	F	+	2	0	FHL5	97165224	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.662000	0.83803	2.160000	0.67779	0.528000	0.53228	TTT		0.448	FHL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041559.1	NM_020482		60	145	0	0	0	1	0	60	145					C	97058503	T	C	97058503	3	2	305	1	0	0	0	0	1	0	0	0	5881	1841	64	4	574	4	FHL5	6	97058503	Missense_Mutation	SNP	T	TCGA-KK-A59V-01A-11D-A29Q-08	5796661	97058503	74056564	391	14908											
GRIK2	2898	broad.mit.edu	37	chr6	102503424	102503424	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggcagtgggagaatttttatAcaaatccaaaaaaaacgctc	17	9	8	7	1	0	1	0	0	0	1	2	2	1	1	1	2	2	2	1	2	8	4			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr6:102503424A>G	ENST00000421544.1	+	15	3021	c.2531A>G	c.(2530-2532)tAc>tGc	p.Y844C	GRIK2_ENST00000318991.6_Missense_Mutation_p.Y844C|GRIK2_ENST00000413795.1_Missense_Mutation_p.Y844C|GRIK2_ENST00000369138.1_Missense_Mutation_p.Y844C|GRIK2_ENST00000369134.4_Missense_Mutation_p.Y795C|GRIK2_ENST00000369137.3_Missense_Mutation_p.Y768C	NM_021956.4	NP_068775.1	Q13002	GRIK2_HUMAN	glutamate receptor, ionotropic, kainate 2	844					behavioral fear response (GO:0001662)|cellular calcium ion homeostasis (GO:0006874)|glutamate receptor signaling pathway (GO:0007215)|intracellular protein transport (GO:0006886)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|neuronal action potential (GO:0019228)|positive regulation of synaptic transmission (GO:0050806)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|regulation of synaptic transmission (GO:0050804)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	extracellular-glutamate-gated ion channel activity (GO:0005234)|kainate selective glutamate receptor activity (GO:0015277)			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83		all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14)		all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206)	Amobarbital(DB01351)|Aprobarbital(DB01352)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Methylphenobarbital(DB00849)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Primidone(DB00794)|Secobarbital(DB00418)|Talbutal(DB00306)|Thiopental(DB00599)	GAATTTTTATACAAATCCAAA	0.373																																						ENST00000369138.1																			0				NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83						c.(2530-2532)tAc>tGc		glutamate receptor, ionotropic, kainate 2	L-Glutamic Acid(DB00142)						80	93	88					6																	102503424		2203	4300	6503	SO:0001583	missense	2898				glutamate signaling pathway|induction of programmed cell death in response to chemical stimulus|neuron apoptosis|positive regulation of synaptic transmission|regulation of short-term neuronal synaptic plasticity	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity	g.chr6:102503424A>G		CCDS5048.1, CCDS5049.1, CCDS55045.1	6q16.3	2012-08-29			ENSG00000164418	ENSG00000164418		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4580	protein-coding gene	gene with protein product		138244		GLUR6		8034316	Standard	NM_021956		Approved	GluK2, MRT6	uc003pqp.4	Q13002	OTTHUMG00000016328	ENST00000421544.1:c.2531A>G	6.37:g.102503424A>G	ENSP00000397026:p.Tyr844Cys					GRIK2_ENST00000369137.3_Missense_Mutation_p.Y768C|GRIK2_ENST00000369134.4_Missense_Mutation_p.Y795C|GRIK2_ENST00000318991.6_Missense_Mutation_p.Y844C|GRIK2_ENST00000413795.1_Missense_Mutation_p.Y844C|GRIK2_ENST00000421544.1_Missense_Mutation_p.Y844C	p.Y844C	NM_001166247.1	NP_001159719.1	Q13002	GRIK2_HUMAN		all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206)	15	3021	+		all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14)	844					A6NMY9|B5MCV0|D7RWZ3|D7RWZ4|D7RWZ5|D7RWZ6|D7RWZ7|Q8WWS1|Q96KS6|Q96KS7|Q96KS8	Missense_Mutation	SNP	ENST00000421544.1	37	c.2531A>G	CCDS5048.1	.	.	.	.	.	.	.	.	.	.	A	20.9	4.068809	0.76301	.	.	ENSG00000164418	ENST00000421544;ENST00000413795;ENST00000369138;ENST00000369137;ENST00000318991;ENST00000369134;ENST00000540076	T;T;T;T;T;T	0.16457	2.44;2.4;2.34;2.66;2.4;2.45	5.68	5.68	0.88126	.	0.117372	0.64402	D	0.000012	T	0.28797	0.0714	L	0.60455	1.87	0.58432	D	0.999997	D;D;D	0.71674	0.998;0.996;0.998	D;D;D	0.70016	0.967;0.91;0.967	T	0.01786	-1.1274	10	0.52906	T	0.07	.	15.9826	0.80125	1.0:0.0:0.0:0.0	.	844;844;844	Q13002-5;Q13002;Q13002-2	.;GRIK2_HUMAN;.	C	844;844;844;768;844;795;619	ENSP00000397026:Y844C;ENSP00000405596:Y844C;ENSP00000358134:Y844C;ENSP00000358133:Y768C;ENSP00000313276:Y844C;ENSP00000358130:Y795C	ENSP00000313276:Y844C	Y	+	2	0	GRIK2	102610117	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	9.339000	0.96797	2.176000	0.68965	0.477000	0.44152	TAC		0.373	GRIK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043718.1			10	149	0	0	0	1	0	10	149					G	102503424	A	G	102503424	3	3	305	1	0	0	0	0	1	0	0	0	6774	391	14	4	2589	4	GRIK2	6	102503424	Missense_Mutation	SNP	A	TCGA-KK-A59V-01A-11D-A29Q-08	5444921	102503424	68611643	392	14909											
NR2E1	7101	broad.mit.edu	37	chr6	108492739	108492739	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acggggtctacgcctgcgacGgctgctcaggttttttcaaa	7	11	12	11	4	3	0	2	0	1	0	3	1	3	0	1	4	3	3	1	4	2	4			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr6:108492739G>A	ENST00000368986.4	+	2	811	c.103G>A	c.(103-105)Ggc>Agc	p.G35S	NR2E1_ENST00000368983.3_Missense_Mutation_p.G72S	NM_003269.3	NP_003260.1	Q9Y466	NR2E1_HUMAN	nuclear receptor subfamily 2, group E, member 1	35					aggressive behavior (GO:0002118)|amygdala development (GO:0021764)|anterior commissure morphogenesis (GO:0021960)|behavioral fear response (GO:0001662)|cell fate commitment (GO:0045165)|cerebral cortex neuron differentiation (GO:0021895)|dentate gyrus development (GO:0021542)|extracellular matrix organization (GO:0030198)|forebrain generation of neurons (GO:0021872)|gene expression (GO:0010467)|glial cell migration (GO:0008347)|layer formation in cerebral cortex (GO:0021819)|long-term synaptic potentiation (GO:0060291)|negative regulation of apoptotic process (GO:0043066)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of neural precursor cell proliferation (GO:2000178)|negative regulation of neuron differentiation (GO:0045665)|nervous system development (GO:0007399)|olfactory bulb development (GO:0021772)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell cycle (GO:0045787)|positive regulation of neural precursor cell proliferation (GO:2000179)|positive regulation of stem cell proliferation (GO:2000648)|regulation of cell migration involved in sprouting angiogenesis (GO:0090049)|regulation of dendrite morphogenesis (GO:0048814)|regulation of timing of neuron differentiation (GO:0060164)|retina development in camera-type eye (GO:0060041)|social behavior (GO:0035176)|somatic stem cell maintenance (GO:0035019)|transcription initiation from RNA polymerase II promoter (GO:0006367)|visual perception (GO:0007601)	nucleoplasm (GO:0005654)	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(16)|prostate(1)|skin(3)	30		all_cancers(87;8.13e-05)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00866)|Colorectal(196;0.0637)		BRCA - Breast invasive adenocarcinoma(108;0.013)|Epithelial(106;0.0521)|all cancers(137;0.068)|OV - Ovarian serous cystadenocarcinoma(136;0.0689)		CGCCTGCGACGGCTGCTCAGG	0.567																																						ENST00000368986.4																			0				central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(16)|prostate(1)|skin(3)	30						c.(103-105)Ggc>Agc		nuclear receptor subfamily 2, group E, member 1							114	126	122					6																	108492739		2203	4300	6503	SO:0001583	missense	7101				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding	g.chr6:108492739G>A	Y13276	CCDS5063.1, CCDS69165.1	6q21	2013-01-16			ENSG00000112333	ENSG00000112333		"Nuclear hormone receptors"	7973	protein-coding gene	gene with protein product		603849		TLX		9628820	Standard	NM_003269		Approved	TLL, XTLL	uc003psg.3	Q9Y466	OTTHUMG00000015319	ENST00000368986.4:c.103G>A	6.37:g.108492739G>A	ENSP00000357982:p.Gly35Ser					NR2E1_ENST00000368983.3_Missense_Mutation_p.G72S	p.G35S	NM_003269.3	NP_003260.1	Q9Y466	NR2E1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.013)|Epithelial(106;0.0521)|all cancers(137;0.068)|OV - Ovarian serous cystadenocarcinoma(136;0.0689)	2	811	+		all_cancers(87;8.13e-05)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00866)|Colorectal(196;0.0637)	35					Q6ZMP8	Missense_Mutation	SNP	ENST00000368986.4	37	c.103G>A	CCDS5063.1	.	.	.	.	.	.	.	.	.	.	G	35	5.597537	0.96602	.	.	ENSG00000112333	ENST00000368986;ENST00000368983	D;D	0.96913	-4.17;-4.17	5.39	5.39	0.77823	Zinc finger, NHR/GATA-type (1);Zinc finger, nuclear hormone receptor-type (5);	0.045768	0.85682	D	0.000000	D	0.98147	0.9388	M	0.84219	2.685	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99035	1.0822	10	0.87932	D	0	.	18.7646	0.91866	0.0:0.0:1.0:0.0	.	35	Q9Y466	NR2E1_HUMAN	S	35;72	ENSP00000357982:G35S;ENSP00000357979:G72S	ENSP00000357979:G72S	G	+	1	0	NR2E1	108599432	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.476000	0.97823	2.542000	0.85734	0.561000	0.74099	GGC		0.567	NR2E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041712.2			65	172	0	0	0	1	0	65	172					A	108492739	G	A	108492739	3	1	305	1	0	0	0	0	1	0	0	0	10625	1116	39	2	109	2	NR2E1	6	108492739	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	5989315	108492739	62622328	393	14910											
C6orf186	728464	broad.mit.edu	37	chr6	110636575	110636575	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agaggcggcactgcttgttgCggatttgatgagctaaattg	9	12	14	6	2	0	3	0	2	0	1	0	4	0	4	0	3	3	4	0	3	2	5			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr6:110636575C>T	ENST00000338882.4	-	3	526	c.527G>A	c.(526-528)cGc>cAc	p.R176H		NM_001123364.1	NP_001116836.1	Q5JXM2	MET24_HUMAN	methyltransferase like 24	176						extracellular region (GO:0005576)	methyltransferase activity (GO:0008168)										CTGCTTGTTGCGGATTTGATG	0.458																																						ENST00000338882.4																			0											c.(526-528)cGc>cAc		methyltransferase like 24							171	151	157					6																	110636575		1568	3582	5150	SO:0001583	missense	728464					extracellular region		g.chr6:110636575C>T		CCDS43489.1	6q21	2012-03-08	2012-02-21	2012-02-21	ENSG00000053328	ENSG00000053328			21566	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 186"	C6orf186			Standard	NM_001123364		Approved	dJ71D21.2	uc010kdu.1	Q5JXM2	OTTHUMG00000015359	ENST00000338882.4:c.527G>A	6.37:g.110636575C>T	ENSP00000344071:p.Arg176His						p.R176H	NM_001123364.1	NP_001116836.1	Q5JXM2	CF186_HUMAN			3	526	-			176					Q6ZSU5	Missense_Mutation	SNP	ENST00000338882.4	37	c.527G>A	CCDS43489.1	.	.	.	.	.	.	.	.	.	.	C	11.54	1.668425	0.29604	.	.	ENSG00000053328	ENST00000338882	T	0.44881	0.91	5.42	-1.08	0.09936	.	0.442766	0.23949	N	0.042967	T	0.14787	0.0357	L	0.35854	1.095	0.36832	D	0.88692	B	0.14012	0.009	B	0.12837	0.008	T	0.08659	-1.0711	10	0.51188	T	0.08	-3.9002	10.2843	0.43558	0.0:0.4182:0.0:0.5818	.	176	Q5JXM2	CF186_HUMAN	H	176	ENSP00000344071:R176H	ENSP00000344071:R176H	R	-	2	0	C6orf186	110743268	0.251000	0.23961	0.210000	0.23637	0.910000	0.53928	0.027000	0.13621	-0.171000	0.10797	-0.793000	0.03317	CGC		0.458	METTL24-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000041794.1	NM_001123364		6	133	0	0	0	1	0	6	133					T	110636575	C	T	110636575	3	4	305	1	0	0	0	0	1	0	0	0	2347	768	27	1	585	1	C6orf186	6	110636575	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	2143836	110636575	60478492	394	14911											
LAMA4	3910	broad.mit.edu	37	chr6	112493823	112493823	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tccgctgtacctcatggtccCgctgcctggctgctgtggcc	2	11	12	16	2	1	0	1	0	0	0	3	0	3	0	5	3	3	5	5	3	1	1	rs146358872	byFrequency	TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr6:112493823C>T	ENST00000230538.7	-	12	1938	c.1541G>A	c.(1540-1542)cGg>cAg	p.R514Q	LAMA4_ENST00000424408.2_Missense_Mutation_p.R507Q|LAMA4_ENST00000522006.1_Missense_Mutation_p.R507Q|LAMA4_ENST00000389463.4_Missense_Mutation_p.R507Q	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN	laminin, alpha 4	514	Domain II and I.				blood vessel development (GO:0001568)|brown fat cell differentiation (GO:0050873)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)	extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		CTCATGGTCCCGCTGCCTGGC	0.478																																						ENST00000230538.7																			0				NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100						c.(1540-1542)cGg>cAg		laminin, alpha 4		C	GLN/ARG,GLN/ARG,GLN/ARG	5,4401	9.9+/-24.2	0,5,2198	107	86	93		1541,1520,1520	5.5	1	6	dbSNP_134	93	0,8600		0,0,4300	yes	missense,missense,missense	LAMA4	NM_001105206.1,NM_001105207.1,NM_002290.3	43,43,43	0,5,6498	TT,TC,CC		0.0,0.1135,0.0384	benign,benign,benign	514/1824,507/1817,507/1817	112493823	5,13001	2203	4300	6503	SO:0001583	missense	3910				cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	extracellular matrix structural constituent|receptor binding	g.chr6:112493823C>T		CCDS34514.1, CCDS43491.1, CCDS43492.1	6q21	2014-09-17			ENSG00000112769	ENSG00000112769		"Laminins"	6484	protein-coding gene	gene with protein product		600133				7959779	Standard	NM_001105206		Approved	LAMA3	uc003pvu.3	Q16363	OTTHUMG00000015386	ENST00000230538.7:c.1541G>A	6.37:g.112493823C>T	ENSP00000230538:p.Arg514Gln					LAMA4_ENST00000424408.2_Missense_Mutation_p.R507Q|LAMA4_ENST00000522006.1_Missense_Mutation_p.R507Q|LAMA4_ENST00000389463.4_Missense_Mutation_p.R507Q	p.R514Q	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)	12	1938	-		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)	514			Domain II and I.		Q14731|Q14735|Q15335|Q4LE44|Q5SZG8|Q9BTB8|Q9UE18|Q9UJN9	Missense_Mutation	SNP	ENST00000230538.7	37	c.1541G>A	CCDS43491.1	.	.	.	.	.	.	.	.	.	.	C	12.40	1.927088	0.34002	0.001135	0.0	ENSG00000112769	ENST00000230538;ENST00000522006;ENST00000389463;ENST00000424408	T;T;T;T	0.10288	2.89;2.89;2.89;2.89	5.51	5.51	0.81932	Laminin I (1);	0.184499	0.49305	D	0.000147	T	0.03220	0.0094	L	0.34521	1.04	0.80722	D	1	B;B	0.16396	0.017;0.014	B;B	0.09377	0.004;0.003	T	0.39251	-0.9623	10	0.20519	T	0.43	.	9.2809	0.37727	0.0:0.8719:0.0:0.1281	.	514;507	Q16363;Q16363-2	LAMA4_HUMAN;.	Q	514;507;507;507	ENSP00000230538:R514Q;ENSP00000429488:R507Q;ENSP00000374114:R507Q;ENSP00000416470:R507Q	ENSP00000230538:R514Q	R	-	2	0	LAMA4	112600516	1.000000	0.71417	1.000000	0.80357	0.924000	0.55760	2.893000	0.48633	2.749000	0.94314	0.563000	0.77884	CGG		0.478	LAMA4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041876.2	NM_001105206		16	39	0	0	0	1	0	16	39					T	112493823	C	T	112493823	3	4	305	1	0	0	0	0	1	0	0	0	8608	652	23	2	4042	2	LAMA4	6	112493823	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	1857248	112493823	58621244	395	14912											
CLVS2	134829	broad.mit.edu	37	chr6	123319048	123319048	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gatatggtcatcaccaggccGgacattggctttctgcgcac	8	10	11	12	2	3	0	2	0	1	0	3	2	3	1	2	4	1	2	2	4	1	3	rs560066128	byFrequency	TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr6:123319048G>A	ENST00000275162.5	+	2	1461	c.126G>A	c.(124-126)ccG>ccA	p.P42P	CLVS2_ENST00000368438.1_Intron	NM_001010852.3	NP_001010852.2	Q5SYC1	CLVS2_HUMAN	clavesin 2	42					lysosome organization (GO:0007040)	clathrin-coated vesicle (GO:0030136)|endosome (GO:0005768)|membrane (GO:0016020)|trans-Golgi network (GO:0005802)	phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|transporter activity (GO:0005215)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	40						TCACCAGGCCGGACATTGGCT	0.567													G|||	2	0.000399361	0.0015	0	5008	,	,		18265	0		0	False		,,,				2504	0					ENST00000275162.4																			0				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	40						c.(124-126)ccG>ccA		clavesin 2							183	147	159					6																	123319048		2203	4300	6503	SO:0001819	synonymous_variant	134829				lysosome organization	clathrin-coated vesicle|early endosome membrane|trans-Golgi network	phosphatidylinositol-3,5-bisphosphate binding|transporter activity	g.chr6:123319048G>A	AK095527	CCDS34525.1	6q22.31	2009-10-14	2009-10-14	2009-10-14	ENSG00000146352	ENSG00000146352			23046	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 212", "chromosome 6 open reading frame 213", "retinaldehyde binding protein 1-like 2"	C6orf212, C6orf213, RLBP1L2		19651769	Standard	NM_001010852		Approved	bA160A10.4	uc003pzi.1	Q5SYC1	OTTHUMG00000015495	ENST00000275162.5:c.126G>A	6.37:g.123319048G>A						CLVS2_ENST00000368438.1_Intron	p.P42P	NM_001010852.2	NP_001010852.2	Q5SYC1	CLVS2_HUMAN			2	1461	+			42					B3KTG5|B4DHL0|C8UZT4|Q5SYC0	Silent	SNP	ENST00000275162.5	37	c.126G>A	CCDS34525.1																																																																																				0.567	CLVS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042042.2	NM_001010852		30	77	0	0	0	1	0	30	77					A	123319048	G	A	123319048	2	1	305	1	0	0	0	0	0	0	0	1	3572	1103	39	2		2	CLVS2	6	123319048	Silent	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	10825225	123319048	47796019	396	14913											
HEY2	23493	broad.mit.edu	37	chr6	126080681	126080681	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acgggcagcgtcgccccctgCgtgccacctctctccacctc	4	7	9	21	4	1	0	0	0	1	0	5	0	2	0	6	1	3	1	6	1	0	0			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr6:126080681C>T	ENST00000368364.3	+	5	944	c.747C>T	c.(745-747)tgC>tgT	p.C249C	HEY2_ENST00000368365.1_Silent_p.C203C	NM_012259.2	NP_036391.1	Q9UBP5	HEY2_HUMAN	hes-related family bHLH transcription factor with YRPW motif 2	249					anterior/posterior axis specification (GO:0009948)|arterial endothelial cell differentiation (GO:0060842)|ascending aorta morphogenesis (GO:0035910)|atrial septum morphogenesis (GO:0060413)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac left ventricle morphogenesis (GO:0003214)|cardiac muscle hypertrophy in response to stress (GO:0014898)|cardiac right ventricle morphogenesis (GO:0003215)|cardiac septum morphogenesis (GO:0060411)|cardiac vascular smooth muscle cell development (GO:0060948)|cardiac ventricle morphogenesis (GO:0003208)|cell fate commitment (GO:0045165)|cochlea development (GO:0090102)|coronary vasculature morphogenesis (GO:0060977)|dorsal aorta morphogenesis (GO:0035912)|endocardial cushion to mesenchymal transition involved in heart valve formation (GO:0003199)|heart trabecula formation (GO:0060347)|labyrinthine layer blood vessel development (GO:0060716)|mesenchymal cell development (GO:0014031)|muscular septum morphogenesis (GO:0003150)|negative regulation of cardiac muscle cell apoptotic process (GO:0010667)|negative regulation of cardiac vascular smooth muscle cell differentiation (GO:2000723)|negative regulation of gene expression (GO:0010629)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of transcription by transcription factor localization (GO:0010621)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation (GO:2000820)|negative regulation of transcription initiation from RNA polymerase II promoter (GO:0060633)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|outflow tract morphogenesis (GO:0003151)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of heart rate (GO:0010460)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein-DNA complex assembly (GO:0065004)|pulmonary artery morphogenesis (GO:0061156)|pulmonary valve morphogenesis (GO:0003184)|regulation of auditory receptor cell differentiation (GO:0045607)|regulation of vasculogenesis (GO:2001212)|smooth muscle cell differentiation (GO:0051145)|tricuspid valve formation (GO:0003195)|tricuspid valve morphogenesis (GO:0003186)|umbilical cord morphogenesis (GO:0036304)|vascular smooth muscle cell development (GO:0097084)|vasculogenesis (GO:0001570)|ventricular cardiac muscle cell development (GO:0055015)|ventricular septum morphogenesis (GO:0060412)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	histone deacetylase binding (GO:0042826)|microsatellite binding (GO:0035939)|protein binding transcription factor activity (GO:0000988)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity (GO:0000983)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			breast(1)|large_intestine(7)|lung(5)|prostate(1)	14				UCEC - Uterine corpus endometrioid carcinoma (4;0.0608)|GBM - Glioblastoma multiforme(226;0.0361)|all cancers(137;0.193)		TCGCCCCCTGCGTGCCACCTC	0.672																																						ENST00000368364.3																			0				breast(1)|large_intestine(7)|lung(5)|prostate(1)	14						c.(745-747)tgC>tgT		hes-related family bHLH transcription factor with YRPW motif 2							170	151	157					6																	126080681		2203	4300	6503	SO:0001819	synonymous_variant	23493				negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription initiation from RNA polymerase II promoter|negative regulation of transcription regulatory region DNA binding|Notch signaling pathway|smooth muscle cell differentiation|transcription, DNA-dependent	transcriptional repressor complex	histone deacetylase binding|RNA polymerase II activating transcription factor binding|sequence-specific DNA binding	g.chr6:126080681C>T	AJ249545	CCDS5131.1	6q	2013-10-17	2013-10-17		ENSG00000135547	ENSG00000135547		"Basic helix-loop-helix proteins"	4881	protein-coding gene	gene with protein product		604674	"hairy/enhancer-of-split related with YRPW motif 2"			10415358	Standard	NM_012259		Approved	bHLHb32, HERP1, HESR2	uc003qad.3	Q9UBP5	OTTHUMG00000015512	ENST00000368364.3:c.747C>T	6.37:g.126080681C>T						HEY2_ENST00000368365.1_Silent_p.C203C	p.C249C	NM_012259.2	NP_036391.1	Q9UBP5	HEY2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;0.0608)|GBM - Glioblastoma multiforme(226;0.0361)|all cancers(137;0.193)	5	944	+			249						Silent	SNP	ENST00000368364.3	37	c.747C>T	CCDS5131.1																																																																																				0.672	HEY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042077.1			126	341	0	0	0	1	0	126	341					T	126080681	C	T	126080681	2	4	305	1	0	0	0	0	0	0	0	1	7079	776	27	1		1	HEY2	6	126080681	Silent	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	2761633	126080681	45034386	397	14914											
PTPRK	5796	broad.mit.edu	37	chr6	128388750	128388750	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccaaaagccttggtaggtccGattgtcacccacagtgaacg	11	8	10	12	2	1	1	1	1	0	0	2	2	2	1	4	2	2	1	4	2	4	3			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr6:128388750G>A	ENST00000368215.3	-	12	2070	c.2071C>T	c.(2071-2073)Cgg>Tgg	p.R691W	PTPRK_ENST00000368227.3_Missense_Mutation_p.R691W|PTPRK_ENST00000524481.1_5'UTR|PTPRK_ENST00000368210.3_Missense_Mutation_p.R691W|PTPRK_ENST00000532331.1_Missense_Mutation_p.R691W|PTPRK_ENST00000368226.4_Missense_Mutation_p.R691W|PTPRK_ENST00000368213.5_Missense_Mutation_p.R691W|PTPRK_ENST00000368207.3_Missense_Mutation_p.R691W|RP11-103C16.2_ENST00000417390.1_RNA			Q15262	PTPRK_HUMAN	protein tyrosine phosphatase, receptor type, K	691					cell adhesion (GO:0007155)|cell migration (GO:0016477)|cellular response to reactive oxygen species (GO:0034614)|cellular response to UV (GO:0034644)|focal adhesion assembly (GO:0048041)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of keratinocyte proliferation (GO:0010839)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|protein localization to cell surface (GO:0034394)|signal transduction (GO:0007165)|transforming growth factor beta receptor signaling pathway (GO:0007179)	axon (GO:0030424)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|leading edge membrane (GO:0031256)|neuronal cell body (GO:0043025)|photoreceptor outer segment (GO:0001750)	beta-catenin binding (GO:0008013)|gamma-catenin binding (GO:0045295)|protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)		PTPRK/RSPO3(10)	autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	72				all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)		TGGTAGGTCCGATTGTCACCC	0.542																																						ENST00000368227.3																		PTPRK/RSPO3(10)	0				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	72						c.(2071-2073)Cgg>Tgg		protein tyrosine phosphatase, receptor type, K							98	96	97					6																	128388750		2203	4300	6503	SO:0001583	missense	5796				cell migration|cellular response to reactive oxygen species|cellular response to UV|focal adhesion assembly|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of keratinocyte proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transforming growth factor beta receptor signaling pathway	adherens junction|cell surface|cell-cell junction|integral to plasma membrane|leading edge membrane	beta-catenin binding|gamma-catenin binding|protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr6:128388750G>A	L77886	CCDS5137.1, CCDS47473.1, CCDS75517.1	6q22.2-q22.3	2013-02-11			ENSG00000152894	ENSG00000152894		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	9674	protein-coding gene	gene with protein product		602545				9047348, 8663237	Standard	NM_002844		Approved	R-PTP-kappa	uc010kfc.3	Q15262	OTTHUMG00000015536	ENST00000368215.3:c.2071C>T	6.37:g.128388750G>A	ENSP00000357198:p.Arg691Trp					PTPRK_ENST00000368207.3_Missense_Mutation_p.R691W|PTPRK_ENST00000524481.1_5'UTR|PTPRK_ENST00000368210.3_Missense_Mutation_p.R691W|PTPRK_ENST00000368226.4_Missense_Mutation_p.R691W|PTPRK_ENST00000532331.1_Missense_Mutation_p.R691W|PTPRK_ENST00000368213.5_Missense_Mutation_p.R691W|PTPRK_ENST00000368215.3_Missense_Mutation_p.R691W|RP11-103C16.2_ENST00000417390.1_RNA	p.R691W			Q15262	PTPRK_HUMAN		all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)	12	2437	-			691					B2RTQ8|B7ZMG0|Q14763|Q5TG10|Q5TG11	Missense_Mutation	SNP	ENST00000368215.3	37	c.2071C>T		.	.	.	.	.	.	.	.	.	.	G	18.83	3.707070	0.68615	.	.	ENSG00000152894	ENST00000368226;ENST00000368227;ENST00000532331;ENST00000368213;ENST00000368210;ENST00000368215;ENST00000368207;ENST00000427676	T;T;T;T;T;T;T	0.08720	3.07;3.06;3.07;3.07;3.06;3.07;3.08	5.67	-2.33	0.06724	.	0.094413	0.64402	D	0.000001	T	0.09113	0.0225	L	0.36672	1.1	0.38421	D	0.94618	D;D;D;D;D;D	0.71674	0.993;0.995;0.997;0.998;0.988;0.993	P;P;P;D;P;P	0.63283	0.727;0.757;0.877;0.913;0.545;0.733	T	0.00353	-1.1795	10	0.87932	D	0	.	17.6268	0.88096	0.0:0.0:0.6319:0.3681	.	691;691;691;548;691;691	B4DHC3;B7ZMG0;Q15262-3;F5GWP2;Q15262;Q15262-2	.;.;.;.;PTPRK_HUMAN;.	W	691;691;691;691;691;691;691;548	ENSP00000357209:R691W;ENSP00000357210:R691W;ENSP00000432973:R691W;ENSP00000357196:R691W;ENSP00000357193:R691W;ENSP00000357198:R691W;ENSP00000357190:R691W	ENSP00000357190:R691W	R	-	1	2	PTPRK	128430443	0.996000	0.38824	0.063000	0.19743	0.982000	0.71751	0.788000	0.26872	-0.625000	0.05604	-0.266000	0.10368	CGG		0.542	PTPRK-005	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000042163.1			30	88	0	0	0	1	0	30	88					A	128388750	G	A	128388750	3	1	305	1	0	0	0	0	1	0	0	0	12805	1057	37	2	2349	2	PTPRK	6	128388750	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	2308069	128388750	42726317	398	14915											
MAP3K5	4217	broad.mit.edu	37	chr6	136913360	136913360	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caattttgtcttggtcttccGtcaggatcctgtgaagggta	7	15	11	8	1	3	1	1	1	2	0	5	2	5	2	2	3	0	1	2	3	3	5			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr6:136913360G>A	ENST00000359015.4	-	23	3536	c.3176C>T	c.(3175-3177)aCg>aTg	p.T1059M	MAP3K5_ENST00000355845.4_Missense_Mutation_p.T306M	NM_005923.3	NP_005914.1	Q99683	M3K5_HUMAN	mitogen-activated protein kinase kinase kinase 5	1059					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of JUN kinase activity (GO:0007257)|activation of MAPKK activity (GO:0000186)|apoptotic signaling pathway (GO:0097190)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to reactive nitrogen species (GO:1902170)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|JNK cascade (GO:0007254)|MAPK cascade (GO:0000165)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of neuron death (GO:1901216)|programmed necrotic cell death (GO:0097300)|protein phosphorylation (GO:0006468)|response to ischemia (GO:0002931)|viral process (GO:0016032)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|protein kinase complex (GO:1902911)	ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|magnesium ion binding (GO:0000287)|MAP kinase kinase kinase activity (GO:0004709)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein phosphatase binding (GO:0019903)			NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(6)|large_intestine(6)|lung(24)|ovary(2)|prostate(1)|skin(4)|urinary_tract(4)	58	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00137)|OV - Ovarian serous cystadenocarcinoma(155;0.00569)		TTGGTCTTCCGTCAGGATCCT	0.448																																						ENST00000359015.4																			0				NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(6)|large_intestine(6)|lung(24)|ovary(2)|prostate(1)|skin(4)|urinary_tract(4)	58						c.(3175-3177)aCg>aTg		mitogen-activated protein kinase kinase kinase 5							143	147	146					6																	136913360		2203	4300	6503	SO:0001583	missense	4217				activation of JUN kinase activity|activation of MAPKK activity|cellular response to hydrogen peroxide|induction of apoptosis by extracellular signals|interspecies interaction between organisms		ATP binding|caspase activator activity|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein phosphatase binding	g.chr6:136913360G>A	U67156	CCDS5179.1	6q22.33	2011-06-09			ENSG00000197442	ENSG00000197442		"Mitogen-activated protein kinase cascade / Kinase kinase kinases"	6857	protein-coding gene	gene with protein product	"apoptosis signal regulating kinase 1"	602448		MEKK5		9465908	Standard	NM_005923		Approved	MAPKKK5, ASK1	uc003qhc.3	Q99683	OTTHUMG00000015647	ENST00000359015.4:c.3176C>T	6.37:g.136913360G>A	ENSP00000351908:p.Thr1059Met					MAP3K5_ENST00000355845.4_Missense_Mutation_p.T306M	p.T1059M	NM_005923.3	NP_005914.1	Q99683	M3K5_HUMAN		GBM - Glioblastoma multiforme(68;0.00137)|OV - Ovarian serous cystadenocarcinoma(155;0.00569)	23	3536	-	Colorectal(23;0.24)		1059					A6NIA0|B4DGB2|Q5THN3|Q99461	Missense_Mutation	SNP	ENST00000359015.4	37	c.3176C>T	CCDS5179.1	.	.	.	.	.	.	.	.	.	.	G	17.85	3.490652	0.64074	.	.	ENSG00000197442	ENST00000359015;ENST00000355845;ENST00000367768	T;T	0.71934	-0.48;-0.61	5.69	4.81	0.61882	.	0.046684	0.85682	D	0.000000	T	0.72195	0.3430	L	0.45581	1.43	0.58432	D	0.999998	P;D	0.89917	0.863;1.0	B;D	0.64506	0.411;0.926	T	0.74783	-0.3548	10	0.48119	T	0.1	.	16.0055	0.80359	0.0:0.0:0.8642:0.1357	.	1140;1059	Q59GL6;Q99683	.;M3K5_HUMAN	M	1059;306;1139	ENSP00000351908:T1059M;ENSP00000348104:T306M	ENSP00000348104:T306M	T	-	2	0	MAP3K5	136955053	1.000000	0.71417	0.888000	0.34837	0.977000	0.68977	7.619000	0.83057	1.372000	0.46190	0.591000	0.81541	ACG		0.448	MAP3K5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042383.1			49	110	0	0	0	1	0	49	110					A	136913360	G	A	136913360	3	1	305	1	0	0	0	0	1	0	0	0	9253	1145	40	1	980	1	MAP3K5	6	136913360	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	8524610	136913360	34201707	399	14916											
TXLNB	167838	broad.mit.edu	37	chr6	139609729	139609729	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcctcttcagttgtttccTcacagtccccatcctcgttg	5	14	6	16	1	3	0	2	0	1	0	7	0	6	0	5	0	1	3	5	0	0	4			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr6:139609729T>G	ENST00000358430.3	-	2	540	c.308A>C	c.(307-309)gAg>gCg	p.E103A	RP11-445F6.2_ENST00000440518.1_RNA|RP11-445F6.2_ENST00000441249.1_RNA	NM_153235.3	NP_694967.3	Q8N3L3	TXLNB_HUMAN	taxilin beta	103						cytoplasm (GO:0005737)				breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	37				OV - Ovarian serous cystadenocarcinoma(155;0.000185)|GBM - Glioblastoma multiforme(68;0.000235)		AGTTGTTTCCTCACAGTCCCC	0.532																																						ENST00000358430.3																			0				breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	37						c.(307-309)gAg>gCg		taxilin beta							115	113	113					6																	139609729		2203	4300	6503	SO:0001583	missense	167838					cytoplasm		g.chr6:139609729T>G		CCDS34545.1	6q23.3	2008-02-05	2005-07-29	2005-07-29	ENSG00000164440	ENSG00000164440			21617	protein-coding gene	gene with protein product		611438	"chromosome 6 open reading frame 198"	C6orf198		15184072	Standard	NM_153235		Approved	DKFZp451A175, MDP77, dJ522B19.2	uc021zfy.1	Q8N3L3	OTTHUMG00000015688	ENST00000358430.3:c.308A>C	6.37:g.139609729T>G	ENSP00000351206:p.Glu103Ala						p.E103A	NM_153235.3	NP_694967.3	Q8N3L3	TXLNB_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.000185)|GBM - Glioblastoma multiforme(68;0.000235)	2	540	-			103					Q5VTF3|Q76L25|Q86T52|Q8N3S2	Missense_Mutation	SNP	ENST00000358430.3	37	c.308A>C	CCDS34545.1	.	.	.	.	.	.	.	.	.	.	T	16.36	3.100169	0.56183	.	.	ENSG00000164440	ENST00000358430	T	0.18657	2.2	5.96	5.96	0.96718	.	0.387640	0.29684	N	0.011472	T	0.12305	0.0299	L	0.55481	1.735	0.49798	D	0.999822	P	0.48694	0.914	B	0.37731	0.257	T	0.03221	-1.1059	9	.	.	.	-8.9794	16.4139	0.83728	0.0:0.0:0.0:1.0	.	103	Q8N3L3	TXLNB_HUMAN	A	103	ENSP00000351206:E103A	.	E	-	2	0	TXLNB	139651422	0.998000	0.40836	0.142000	0.22268	0.258000	0.26162	5.405000	0.66351	2.279000	0.76181	0.528000	0.53228	GAG		0.532	TXLNB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042458.1	NM_153235		5	116	0	0	0	1	0	5	116					G	139609729	T	G	139609729	3	3	305	1	0	0	0	0	1	0	0	0	16785	1551	54	5	1782	5	TXLNB	6	139609729	Missense_Mutation	SNP	T	TCGA-KK-A59V-01A-11D-A29Q-08	2696369	139609729	31505338	400	14917											
NMBR	4829	broad.mit.edu	37	chr6	142399950	142399950	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcgggaactgccagcaacacGgagaccacccagatacccat	13	4	9	15	2	0	2	0	0	0	2	1	4	0	3	4	2	5	1	4	2	3	1	rs574520128		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr6:142399950G>A	ENST00000258042.1	-	2	653	c.513C>T	c.(511-513)tcC>tcT	p.S171S	NMBR_ENST00000480652.1_5'Flank	NM_002511.2	NP_002502.2	P28336	NMBR_HUMAN	neuromedin B receptor	171					G-protein coupled receptor signaling pathway (GO:0007186)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	bombesin receptor activity (GO:0004946)			breast(2)|central_nervous_system(3)|endometrium(3)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23	Breast(32;0.155)			OV - Ovarian serous cystadenocarcinoma(155;9.93e-06)|GBM - Glioblastoma multiforme(68;0.0013)		CCAGCAACACGGAGACCACCC	0.532																																						ENST00000258042.1																			0				breast(2)|central_nervous_system(3)|endometrium(3)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23						c.(511-513)tcC>tcT		neuromedin B receptor							115	99	104					6																	142399950		2203	4300	6503	SO:0001819	synonymous_variant	4829				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger	cytoplasm|integral to plasma membrane	bombesin receptor activity	g.chr6:142399950G>A		CCDS5196.1	6q24.1	2014-02-21			ENSG00000135577	ENSG00000135577		"GPCR / Class A : Bombesin receptors"	7843	protein-coding gene	gene with protein product	"bombesin receptor 1"	162341					Standard	NM_002511		Approved	BB1	uc003qiu.3	P28336	OTTHUMG00000015704	ENST00000258042.1:c.513C>T	6.37:g.142399950G>A							p.S171S	NM_002511.2	NP_002502.2	P28336	NMBR_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;9.93e-06)|GBM - Glioblastoma multiforme(68;0.0013)	2	653	-	Breast(32;0.155)		171					E9KL38|Q5VUK8	Silent	SNP	ENST00000258042.1	37	c.513C>T	CCDS5196.1																																																																																				0.532	NMBR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042479.1			29	71	0	0	0	1	0	29	71					A	142399950	G	A	142399950	2	1	305	1	0	0	0	0	0	0	0	1	10487	1103	39	2		2	NMBR	6	142399950	Silent	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	2790221	142399950	28715117	401	14918											
AKAP12	9590	broad.mit.edu	37	chr6	151671792	151671792	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gccctaccgaaggggagggcGtttccacctgggagtcattt	7	9	14	11	2	1	0	1	0	0	0	2	3	2	2	4	4	1	1	4	4	2	3			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr6:151671792G>A	ENST00000253332.1	+	3	2455	c.2266G>A	c.(2266-2268)Gtt>Att	p.V756I	AKAP12_ENST00000359755.5_Missense_Mutation_p.V651I|AKAP12_ENST00000354675.6_Missense_Mutation_p.V658I|AKAP12_ENST00000402676.2_Missense_Mutation_p.V756I			Q02952	AKA12_HUMAN	A kinase (PRKA) anchor protein 12	756	AKAP 2.				G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of protein kinase A signaling (GO:0010739)|protein targeting (GO:0006605)|regulation of protein kinase C signaling (GO:0090036)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)	adenylate cyclase binding (GO:0008179)|protein kinase A binding (GO:0051018)			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	68		Ovarian(120;0.125)	BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.98e-11)		AGGGGAGGGCGTTTCCACCTG	0.537																																					Melanoma(141;1616 1805 10049 24534 51979)	ENST00000402676.2																			0				breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	68						c.(2266-2268)Gtt>Att		A kinase (PRKA) anchor protein 12							97	109	105					6																	151671792		2203	4300	6503	SO:0001583	missense	9590				G-protein coupled receptor protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of protein kinase A signaling cascade|protein targeting	cell cortex|cytoskeleton|plasma membrane	adenylate cyclase binding|protein kinase A binding	g.chr6:151671792G>A	U81607	CCDS5229.1, CCDS5230.1	6q24-q25	2011-07-01	2008-08-29		ENSG00000131016	ENSG00000131016		"A-kinase anchor proteins"	370	protein-coding gene	gene with protein product	"gravin", "Src-Suppressed C Kinase Substrate"	604698	"A kinase (PRKA) anchor protein (gravin) 12"			9000000	Standard	NM_144497		Approved	AKAP250, SSeCKS	uc011eep.2	Q02952	OTTHUMG00000015833	ENST00000253332.1:c.2266G>A	6.37:g.151671792G>A	ENSP00000253332:p.Val756Ile					AKAP12_ENST00000359755.5_Missense_Mutation_p.V651I|AKAP12_ENST00000253332.1_Missense_Mutation_p.V756I|AKAP12_ENST00000354675.6_Missense_Mutation_p.V658I	p.V756I	NM_005100.3	NP_005091.2	Q02952	AKA12_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.98e-11)	4	2506	+		Ovarian(120;0.125)	756			AKAP 2.		O00310|O00498|Q4LE68|Q5SZ80|Q5TGN1|Q68D82|Q99970	Missense_Mutation	SNP	ENST00000253332.1	37	c.2266G>A	CCDS5229.1	.	.	.	.	.	.	.	.	.	.	G	13.30	2.197061	0.38806	.	.	ENSG00000131016	ENST00000402676;ENST00000253332;ENST00000354675;ENST00000359755	T;T;T;T	0.44881	0.91;0.91;0.91;0.91	5.63	5.63	0.86233	Protein kinase A anchoring, WSK motif (1);	0.000000	0.39615	N	0.001305	T	0.28433	0.0703	N	0.12182	0.205	0.28498	N	0.914158	D;D;D	0.69078	0.996;0.996;0.997	P;P;P	0.61328	0.753;0.753;0.887	T	0.15665	-1.0429	10	0.37606	T	0.19	.	13.3874	0.60803	0.0806:0.0:0.9194:0.0	.	651;658;756	Q02952-3;Q02952-2;Q02952	.;.;AKA12_HUMAN	I	756;756;658;651	ENSP00000384537:V756I;ENSP00000253332:V756I;ENSP00000346702:V658I;ENSP00000352794:V651I	ENSP00000253332:V756I	V	+	1	0	AKAP12	151713485	1.000000	0.71417	0.107000	0.21349	0.083000	0.17756	4.314000	0.59166	2.652000	0.90054	0.655000	0.94253	GTT		0.537	AKAP12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042712.1			58	166	0	0	0	1	0	58	166					A	151671792	G	A	151671792	3	1	305	1	0	0	0	0	1	0	0	0	448	1145	40	1	2305	1	AKAP12	6	151671792	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	9271842	151671792	19443275	402	14919											
OPRM1	4988	broad.mit.edu	37	chr6	154412196	154412196	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atgccagtgctcatcattacCgtgtgctatggactgatgat	9	13	10	9	1	2	2	2	2	0	0	2	3	2	3	2	1	4	2	2	1	2	2			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr6:154412196C>T	ENST00000330432.7	+	3	990	c.753C>T	c.(751-753)acC>acT	p.T251T	OPRM1_ENST00000337049.4_Silent_p.T251T|OPRM1_ENST00000229768.5_Silent_p.T251T|OPRM1_ENST00000414028.2_Silent_p.T251T|OPRM1_ENST00000435918.2_Silent_p.T251T|OPRM1_ENST00000360422.4_Silent_p.T251T|OPRM1_ENST00000518759.1_Silent_p.T170T|OPRM1_ENST00000520708.1_Silent_p.T151T|OPRM1_ENST00000524163.1_Silent_p.T251T|OPRM1_ENST00000428397.2_Silent_p.T251T|OPRM1_ENST00000452687.2_Silent_p.T251T|OPRM1_ENST00000434900.2_Silent_p.T344T|OPRM1_ENST00000419506.2_Silent_p.T251T|OPRM1_ENST00000522236.1_Silent_p.T151T|OPRM1_ENST00000522555.1_Silent_p.T151T	NM_000914.3	NP_000905.3	P35372	OPRM_HUMAN	opioid receptor, mu 1	251					adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|behavioral response to ethanol (GO:0048149)|calcium ion transmembrane transport (GO:0070588)|cellular response to stress (GO:0033554)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|locomotory behavior (GO:0007626)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of cAMP-mediated signaling (GO:0043951)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|negative regulation of nitric oxide biosynthetic process (GO:0045019)|negative regulation of Wnt protein secretion (GO:0061358)|neuropeptide signaling pathway (GO:0007218)|opioid receptor signaling pathway (GO:0038003)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neurogenesis (GO:0050769)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|sensory perception (GO:0007600)|sensory perception of pain (GO:0019233)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	beta-endorphin receptor activity (GO:0004979)|G-protein alpha-subunit binding (GO:0001965)|G-protein coupled receptor activity (GO:0004930)|morphine receptor activity (GO:0038047)|voltage-gated calcium channel activity (GO:0005245)	p.T251T(2)|p.T344T(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(15)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	33		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;9.26e-11)|BRCA - Breast invasive adenocarcinoma(81;0.0154)	Alfentanil(DB00802)|Alvimopan(DB06274)|Amitriptyline(DB00321)|Anileridine(DB00913)|Buprenorphine(DB00921)|Butorphanol(DB00611)|Codeine(DB00318)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Dezocine(DB01209)|Diphenoxylate(DB01081)|Ethylmorphine(DB01466)|Fentanyl(DB00813)|Heroin(DB01452)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Ketamine(DB01221)|Ketobemidone(DB06738)|Levallorphan(DB00504)|Levomethadyl Acetate(DB01227)|Levorphanol(DB00854)|Loperamide(DB00836)|Methadone(DB00333)|Methadyl Acetate(DB01433)|Methylnaltrexone(DB06800)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Ondansetron(DB00904)|Oxycodone(DB00497)|Oxymorphone(DB01192)|Pentazocine(DB00652)|Pethidine(DB00454)|Remifentanil(DB00899)|Sufentanil(DB00708)|Tapentadol(DB06204)|Tramadol(DB00193)	TCATCATTACCGTGTGCTATG	0.473																																						ENST00000414028.2																			3	Substitution - coding silent(3)	p.T251T(2)|p.T344T(1)	lung(3)	breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(15)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	33						c.(751-753)acC>acT		opioid receptor, mu 1	Alfentanil(DB00802)|Anileridine(DB00913)|Buprenorphine(DB00921)|Butorphanol(DB00611)|Codeine(DB00318)|Dezocine(DB01209)|Diphenoxylate(DB01081)|Fentanyl(DB00813)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Levallorphan(DB00504)|Levomethadyl Acetate(DB01227)|Levorphanol(DB00854)|Loperamide(DB00836)|Methadone(DB00333)|Methadyl Acetate(DB01433)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Oxycodone(DB00497)|Oxymorphone(DB01192)|Pentazocine(DB00652)|Propoxyphene(DB00647)|Remifentanil(DB00899)|Sufentanil(DB00708)|Tramadol(DB00193)						187	178	181					6																	154412196		2129	4276	6405	SO:0001819	synonymous_variant	4988				behavior|negative regulation of cell proliferation|sensory perception	endoplasmic reticulum|Golgi apparatus|integral to plasma membrane	mu-opioid receptor activity|protein binding	g.chr6:154412196C>T	L29301	CCDS43517.1, CCDS43518.1, CCDS47503.1, CCDS47504.1, CCDS47505.1, CCDS47506.1, CCDS47507.1, CCDS47508.1, CCDS55071.1, CCDS55068.1, CCDS55069.1, CCDS55070.1	6q24-q25	2012-08-08			ENSG00000112038	ENSG00000112038		"GPCR / Class A : Opioid receptors"	8156	protein-coding gene	gene with protein product		600018					Standard	NM_001145285		Approved	MOR1	uc003qpo.1	P35372	OTTHUMG00000015870	ENST00000330432.7:c.753C>T	6.37:g.154412196C>T						OPRM1_ENST00000428397.2_Silent_p.T251T|OPRM1_ENST00000229768.5_Silent_p.T251T|OPRM1_ENST00000518759.1_Silent_p.T170T|OPRM1_ENST00000419506.2_Silent_p.T251T|OPRM1_ENST00000360422.4_Silent_p.T251T|OPRM1_ENST00000522555.1_Silent_p.T151T|OPRM1_ENST00000452687.2_Silent_p.T251T|OPRM1_ENST00000520708.1_Silent_p.T151T|OPRM1_ENST00000435918.2_Silent_p.T251T|OPRM1_ENST00000434900.2_Silent_p.T344T|OPRM1_ENST00000337049.4_Silent_p.T251T|OPRM1_ENST00000330432.7_Silent_p.T251T|OPRM1_ENST00000522236.1_Silent_p.T151T|OPRM1_ENST00000524163.1_Silent_p.T251T	p.T251T	NM_001145284.2	NP_001138756.1	P35372	OPRM_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;9.26e-11)|BRCA - Breast invasive adenocarcinoma(81;0.0154)	3	803	+		Ovarian(120;0.196)	251					B0FXJ1|B2R9S7|B8Q1L7|B8Q1L8|B8Q1L9|E7EWZ3|G8XRH6|G8XRH8|Q12930|Q4VWM1|Q4VWM2|Q4VWM3|Q4VWM4|Q4VWM6|Q4VWX6|Q5TDA1|Q6UPP1|Q6UQ80|Q7Z2D8|Q86V80|Q8IWW3|Q8IWW4|Q9UCZ4|Q9UN57	Silent	SNP	ENST00000330432.7	37	c.753C>T	CCDS55070.1																																																																																				0.473	OPRM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042786.2	NM_000914		23	92	0	0	0	1	0	23	92					T	154412196	C	T	154412196	2	4	305	1	0	0	0	0	0	0	0	1	10887	639	23	2		2	OPRM1	6	154412196	Silent	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	2740404	154412196	16702871	403	14920											
SOD2	6648	broad.mit.edu	37	chr6	160103610	160103610	+	Frame_Shift_Del	DEL	T	T	-																															ttagataatcaggcctgacaTttttatactgaaggtagtaa																										TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr6:160103610delT	ENST00000546087.1	-	7	2273	c.446delA	c.(445-447)aatfs	p.N149fs	SOD2_ENST00000538183.2_Frame_Shift_Del_p.N195fs|SOD2_ENST00000337404.4_Frame_Shift_Del_p.N156fs|SOD2_ENST00000444946.2_Frame_Shift_Del_p.N135fs|SOD2_ENST00000367054.2_Frame_Shift_Del_p.N156fs|SOD2_ENST00000367055.4_Frame_Shift_Del_p.N195fs			P04179	SODM_HUMAN	superoxide dismutase 2, mitochondrial	195				Missing (in Ref. 6). {ECO:0000305}.	age-dependent response to reactive oxygen species (GO:0001315)|cellular response to ethanol (GO:0071361)|detection of oxygen (GO:0003032)|erythrophore differentiation (GO:0048773)|glutathione metabolic process (GO:0006749)|heart development (GO:0007507)|hemopoiesis (GO:0030097)|hydrogen peroxide biosynthetic process (GO:0050665)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|iron ion homeostasis (GO:0055072)|liver development (GO:0001889)|locomotory behavior (GO:0007626)|negative regulation of cell proliferation (GO:0008285)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|neuron development (GO:0048666)|oxygen homeostasis (GO:0032364)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|post-embryonic development (GO:0009791)|protein homotetramerization (GO:0051289)|regulation of blood pressure (GO:0008217)|regulation of catalytic activity (GO:0050790)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|release of cytochrome c from mitochondria (GO:0001836)|removal of superoxide radicals (GO:0019430)|respiratory electron transport chain (GO:0022904)|response to activity (GO:0014823)|response to axon injury (GO:0048678)|response to cadmium ion (GO:0046686)|response to drug (GO:0042493)|response to electrical stimulus (GO:0051602)|response to gamma radiation (GO:0010332)|response to hydrogen peroxide (GO:0042542)|response to hyperoxia (GO:0055093)|response to hypoxia (GO:0001666)|response to L-ascorbic acid (GO:0033591)|response to lipopolysaccharide (GO:0032496)|response to manganese ion (GO:0010042)|response to selenium ion (GO:0010269)|response to silicon dioxide (GO:0034021)|response to superoxide (GO:0000303)|response to zinc ion (GO:0010043)|superoxide anion generation (GO:0042554)|superoxide metabolic process (GO:0006801)|vasodilation by acetylcholine involved in regulation of systemic arterial blood pressure (GO:0003069)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|manganese ion binding (GO:0030145)|oxygen binding (GO:0019825)|superoxide dismutase activity (GO:0004784)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(3)|skin(1)	14		Breast(66;0.000776)|Ovarian(120;0.0303)|Prostate(117;0.103)		OV - Ovarian serous cystadenocarcinoma(65;1.4e-18)|BRCA - Breast invasive adenocarcinoma(81;5.77e-06)		AGGCCTGACATTTTTATACTG	0.403																																						ENST00000538183.1																			0				central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(3)|skin(1)	14						c.(583-585)atfs		superoxide dismutase 2, mitochondrial							107	100	102					6																	160103610		2203	4300	6503	SO:0001589	frameshift_variant	6648				age-dependent response to reactive oxygen species|negative regulation of neuron apoptosis|oxygen homeostasis|protein homotetramerization|regulation of transcription from RNA polymerase II promoter|release of cytochrome c from mitochondria|removal of superoxide radicals|vasodilation by acetylcholine involved in regulation of systemic arterial blood pressure		manganese ion binding|superoxide dismutase activity	g.chr6:160103610delT	M36693	CCDS5265.1, CCDS34564.1	6q25	2008-02-05			ENSG00000112096	ENSG00000112096	1.15.1.1		11180	protein-coding gene	gene with protein product		147460					Standard	NM_000636		Approved		uc003qsg.3	P04179	OTTHUMG00000015940	ENST00000546087.1:c.446delA	6.37:g.160103610delT	ENSP00000442920:p.Asn149fs					SOD2_ENST00000367054.2_Frame_Shift_Del_p.N156fs|SOD2_ENST00000546087.1_Frame_Shift_Del_p.N149fs|SOD2_ENST00000367055.4_Frame_Shift_Del_p.N195fs|SOD2_ENST00000444946.2_Frame_Shift_Del_p.N135fs|SOD2_ENST00000337404.4_Frame_Shift_Del_p.N156fs	p.N195fs	NM_000636.2	NP_000627.2	P04179	SODM_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;1.4e-18)|BRCA - Breast invasive adenocarcinoma(81;5.77e-06)	5	744	-		Breast(66;0.000776)|Ovarian(120;0.0303)|Prostate(117;0.103)	195					B2R7R1|B3KUK2|B4DL20|B4E3K9|E1P5A9|P78434|Q16792|Q5TCM1|Q96EE6|Q9P2Z3	Frame_Shift_Del	DEL	ENST00000546087.1	37	c.584delA																																																																																					0.403	SOD2-004	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000399943.1	NM_000636		15	35						15	35	---	---	---	---	-	160103610	T	-	160103610	7	5	305	1	0	1	0	1	0	0	0	0	14921	1493	52	0	88	0	SOD2	6	160103610	Frame_Shift_Del	DEL	T	TCGA-KK-A59V-01A-11D-A29Q-08	5691414	160103610	11011457	404	14921											
TCP10	6953	broad.mit.edu	37	chr6	167787857	167787858	+	Frame_Shift_Ins	INS	-	-	G																															cctgccgctctgcactgtctINSggggcagaactggcgaactc																										TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr6:167787857_167787858insG	ENST00000397829.4	-	7	937_938	c.770_771insC	c.(769-771)ccafs	p.P257fs	TCP10_ENST00000366827.2_Frame_Shift_Ins_p.P257fs	NM_004610.3	NP_004601.3	Q12799	TCP10_HUMAN	t-complex 10	284						cytosol (GO:0005829)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(2)|lung(6)	18		Breast(66;1.53e-05)|Ovarian(120;0.024)		OV - Ovarian serous cystadenocarcinoma(33;4.05e-20)|BRCA - Breast invasive adenocarcinoma(81;1.1e-06)|GBM - Glioblastoma multiforme(31;0.0386)		CTGCACTGTCTGGGGCAGAACT	0.559																																						ENST00000366827.2																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(2)|lung(6)	18						c.(769-771)cgafs		t-complex 10																																				SO:0001589	frameshift_variant	6953					cytosol		g.chr6:167787857_167787858insG	U03399	CCDS43527.1	6q27	2012-09-20	2012-09-20		ENSG00000203690	ENSG00000203690			11656	protein-coding gene	gene with protein product		187020	"t-complex 10 (a murine tcp homolog)", "t-complex 10 (mouse)", "t-complex 10 homolog (mouse)"			8111376	Standard	NM_004610		Approved		uc003qvv.1	Q12799	OTTHUMG00000016026	ENST00000397829.4:c.771dupC	6.37:g.167787861_167787861dupG	ENSP00000380929:p.Pro257fs					TCP10_ENST00000397829.4_Frame_Shift_Ins_p.R257fs	p.R257fs			Q12799	TCP10_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;4.05e-20)|BRCA - Breast invasive adenocarcinoma(81;1.1e-06)|GBM - Glioblastoma multiforme(31;0.0386)	7	981_982	-		Breast(66;1.53e-05)|Ovarian(120;0.024)	284					Q5JR60|Q6P4F4	Frame_Shift_Ins	INS	ENST00000397829.4	37	c.770_771insC	CCDS43527.1																																																																																				0.559	TCP10-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000365570.1	NM_004610		7	31						7	31	---	---	---	---	G	167787858	-	G	167787857	7	5	305	1	0	1	1	0	0	0	0	0	15707	1567	55	0	217	0	TCP10	6	167787857	Frame_Shift_Ins	INS	-	TCGA-KK-A59V-01A-11D-A29Q-08	7684247	167787857	3327210	405	14922											
ZFAND2A	90637	broad.mit.edu	37	chr7	1192812	1192812	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttgggcacataccatctgcaGcatctctttcttcttgcagc	7	14	7	13	0	4	0	0	0	4	0	5	0	4	0	1	1	5	4	1	1	1	5			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr7:1192812G>A	ENST00000316495.3	-	5	590	c.331C>T	c.(331-333)Ctg>Ttg	p.L111L	ZFAND2A_ENST00000401903.1_Silent_p.L111L	NM_182491.2	NP_872297.2	Q8N6M9	ZFN2A_HUMAN	zinc finger, AN1-type domain 2A	111					cellular response to arsenic-containing substance (GO:0071243)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|proteasome complex (GO:0000502)	zinc ion binding (GO:0008270)			lung(2)|ovary(1)	3		Ovarian(82;0.11)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;1.82e-15)		ACCATCTGCAGCATCTCTTTC	0.483																																						ENST00000401903.1																			0				lung(2)|ovary(1)	3						c.(331-333)Ctg>Ttg		zinc finger, AN1-type domain 2A							164	126	139					7																	1192812		2203	4300	6503	SO:0001819	synonymous_variant	90637					cytoplasm|nucleus	zinc ion binding	g.chr7:1192812G>A	BC029558	CCDS5323.1	7p22.3	2010-04-23			ENSG00000178381	ENSG00000178381		"Zinc fingers, AN1-type domain containing"	28073	protein-coding gene	gene with protein product	"arsenite inducible RNA associated protein"	610699				20185824	Standard	NM_182491		Approved	AIRAP	uc003skc.3	Q8N6M9	OTTHUMG00000119019	ENST00000316495.3:c.331C>T	7.37:g.1192812G>A						ZFAND2A_ENST00000316495.3_Silent_p.L111L	p.L111L			Q8N6M9	ZFN2A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;1.82e-15)	5	590	-		Ovarian(82;0.11)	111					A4D220	Silent	SNP	ENST00000316495.3	37	c.331C>T	CCDS5323.1																																																																																				0.483	ZFAND2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239220.2	NM_182491		6	78	0	0	0	1	0	6	78					A	1192812	G	A	1192812	2	1	305	1	0	0	0	0	0	0	0	1	17624	962	34	3		3	ZFAND2A	7	1192812	Silent	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08		1192812	157945851	406	14923											
EIF3B	8662	broad.mit.edu	37	chr7	2404100	2404100	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctctatgggggggagagaaaTtcaagcaaattcagagattc	14	9	12	6	0	3	2	2	0	1	2	4	5	3	3	0	3	1	1	0	3	4	4			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr7:2404100T>A	ENST00000360876.4	+	6	1149	c.1093T>A	c.(1093-1095)Ttc>Atc	p.F365I	EIF3B_ENST00000397011.2_Missense_Mutation_p.F365I	NM_001037283.1	NP_001032360.1			eukaryotic translation initiation factor 3, subunit B											breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|skin(1)	24		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0833)|OV - Ovarian serous cystadenocarcinoma(56;7.76e-14)		GGGAGAGAAATTCAAGCAAAT	0.478																																						ENST00000360876.4																			0				breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|skin(1)	24						c.(1093-1095)Ttc>Atc		eukaryotic translation initiation factor 3, subunit B							100	104	102					7																	2404100		2203	4300	6503	SO:0001583	missense	8662				regulation of translational initiation	cytosol|eukaryotic translation initiation factor 3 complex	nucleotide binding|protein complex scaffold|translation initiation factor activity	g.chr7:2404100T>A	U62583	CCDS5332.1	7p22	2013-02-12	2007-07-27	2007-07-27	ENSG00000106263	ENSG00000106263		"RNA binding motif (RRM) containing"	3280	protein-coding gene	gene with protein product		603917	"eukaryotic translation initiation factor 3, subunit 9 eta, 116kDa"	EIF3S9		8995410	Standard	NM_001037283		Approved	PRT1, eIF3b	uc003sly.3	P55884	OTTHUMG00000022839	ENST00000360876.4:c.1093T>A	7.37:g.2404100T>A	ENSP00000354125:p.Phe365Ile					EIF3B_ENST00000397011.2_Missense_Mutation_p.F365I	p.F365I	NM_001037283.1	NP_001032360.1	P55884	EIF3B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0833)|OV - Ovarian serous cystadenocarcinoma(56;7.76e-14)	6	1149	+		Ovarian(82;0.0253)	365			Sufficient for interaction with EIF3E.			Missense_Mutation	SNP	ENST00000360876.4	37	c.1093T>A	CCDS5332.1	.	.	.	.	.	.	.	.	.	.	T	35	5.476870	0.96291	.	.	ENSG00000106263	ENST00000431643;ENST00000314800;ENST00000360876;ENST00000397011;ENST00000489558	T;T;T	0.38401	1.14;1.14;1.14	5.93	5.93	0.95920	WD40/YVTN repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.63593	0.2524	M	0.82056	2.57	0.80722	D	1	D;D	0.89917	0.987;1.0	P;D	0.76071	0.776;0.987	T	0.68360	-0.5429	10	0.87932	D	0	-34.706	16.3829	0.83481	0.0:0.0:0.0:1.0	.	326;365	A4D210;P55884	.;EIF3B_HUMAN	I	93;365;365;365;289	ENSP00000408062:F93I;ENSP00000354125:F365I;ENSP00000380206:F365I	ENSP00000316638:F365I	F	+	1	0	EIF3B	2370626	1.000000	0.71417	0.997000	0.53966	0.996000	0.88848	7.590000	0.82653	2.271000	0.75665	0.459000	0.35465	TTC		0.478	EIF3B-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207006.1			6	130	0	0	0	1	0	6	130					A	2404100	T	A	2404100	3	1	305	1	0	0	0	0	1	0	0	0	5013	1493	52	5	1115	5	EIF3B	7	2404100	Missense_Mutation	SNP	T	TCGA-KK-A59V-01A-11D-A29Q-08	1211288	2404100	156734563	407	14924											
TTYH3	80727	broad.mit.edu	37	chr7	2691855	2691855	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacctggcctgctcgccccgCgccgccaaccccttccagca	5	6	8	22	4	0	0	0	0	0	0	2	0	1	0	9	1	4	2	9	1	2	2	rs368779405	byFrequency	TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr7:2691855C>T	ENST00000258796.7	+	8	1111	c.906C>T	c.(904-906)cgC>cgT	p.R302R	TTYH3_ENST00000403167.1_Silent_p.R131R|TTYH3_ENST00000407643.1_Silent_p.R270R	NM_025250.2	NP_079526.1	Q9C0H2	TTYH3_HUMAN	tweety family member 3	302					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	chloride channel complex (GO:0034707)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	chloride channel activity (GO:0005254)|intracellular calcium activated chloride channel activity (GO:0005229)			kidney(1)|large_intestine(3)|lung(9)|prostate(2)|upper_aerodigestive_tract(2)	17		Ovarian(82;0.0112)		OV - Ovarian serous cystadenocarcinoma(56;2.04e-14)		GCTCGCCCCGCGCCGCCAACC	0.642													C|||	2	0.000399361	0	0	5008	,	,		20730	0.001		0	False		,,,				2504	0.001					ENST00000258796.7																			0				kidney(1)|large_intestine(3)|lung(9)|prostate(2)|upper_aerodigestive_tract(2)	17						c.(904-906)cgC>cgT		tweety family member 3		C		0,4406		0,0,2203	49	38	41		906	-8.2	0	7		41	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	TTYH3	NM_025250.2		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		302/524	2691855	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	80727					chloride channel complex|plasma membrane	chloride channel activity	g.chr7:2691855C>T		CCDS34588.1	7p22	2013-09-02	2013-09-02		ENSG00000136295	ENSG00000136295			22222	protein-coding gene	gene with protein product		608919	"tweety homolog 3 (Drosophila)"				Standard	NM_025250		Approved	KIAA1691	uc003smp.3	Q9C0H2	OTTHUMG00000152050	ENST00000258796.7:c.906C>T	7.37:g.2691855C>T						TTYH3_ENST00000407643.1_Silent_p.R270R|TTYH3_ENST00000403167.1_Silent_p.R131R	p.R302R	NM_025250.2	NP_079526.1	Q9C0H2	TTYH3_HUMAN		OV - Ovarian serous cystadenocarcinoma(56;2.04e-14)	8	1111	+		Ovarian(82;0.0112)	302					A4D201|B7WP98|Q6L749|Q6ZVG3|Q8TEG6	Silent	SNP	ENST00000258796.7	37	c.906C>T	CCDS34588.1																																																																																				0.642	TTYH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325082.2	XM_166523		7	52	0	0	0	1	0	7	52					T	2691855	C	T	2691855	2	4	305	1	0	0	0	0	0	0	0	1	16738	755	27	1		1	TTYH3	7	2691855	Silent	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	287755	2691855	156446808	408	14925											
AMZ1	155185	broad.mit.edu	37	chr7	2751998	2751998	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gactcaggcggtggtggggaCgtggcccagccaggaggcgg	6	4	21	10	3	1	0	1	0	0	0	1	3	1	2	2	9	1	0	2	9	0	0	rs149900602		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr7:2751998C>T	ENST00000312371.4	+	7	1351	c.983C>T	c.(982-984)aCg>aTg	p.T328M	AMZ1_ENST00000489665.1_Intron|AMZ1_ENST00000407112.1_Silent_p.D271D	NM_133463.1	NP_597720.1	Q400G9	AMZ1_HUMAN	archaelysin family metallopeptidase 1	328							metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(2)|kidney(1)|large_intestine(4)|lung(8)|skin(1)	16		Ovarian(82;0.0779)		OV - Ovarian serous cystadenocarcinoma(56;5.03e-14)		GTGGTGGGGACGTGGCCCAGC	0.662																																						ENST00000312371.4																			0				breast(2)|kidney(1)|large_intestine(4)|lung(8)|skin(1)	16						c.(982-984)aCg>aTg		archaelysin family metallopeptidase 1		C	MET/THR	0,4406		0,0,2203	30	35	33		983	2	0	7	dbSNP_134	33	4,8596	3.7+/-12.6	0,4,4296	yes	missense	AMZ1	NM_133463.1	81	0,4,6499	TT,TC,CC		0.0465,0.0,0.0308	benign	328/499	2751998	4,13002	2203	4300	6503	SO:0001583	missense	155185						metallopeptidase activity|zinc ion binding	g.chr7:2751998C>T	AB075830	CCDS34589.1, CCDS64582.1	7p22.3	2008-01-17			ENSG00000174945	ENSG00000174945			22231	protein-coding gene	gene with protein product	"archaemetzincin-1"	615168				15972818	Standard	NM_133463		Approved	KIAA1950	uc003smr.1	Q400G9	OTTHUMG00000152111	ENST00000312371.4:c.983C>T	7.37:g.2751998C>T	ENSP00000308149:p.Thr328Met					AMZ1_ENST00000489665.1_Intron|AMZ1_ENST00000407112.1_Silent_p.D271D	p.T328M	NM_133463.1	NP_597720.1	Q400G9	AMZ1_HUMAN		OV - Ovarian serous cystadenocarcinoma(56;5.03e-14)	7	1351	+		Ovarian(82;0.0779)	328					B3KRS0|Q8TF51	Missense_Mutation	SNP	ENST00000312371.4	37	c.983C>T	CCDS34589.1	.	.	.	.	.	.	.	.	.	.	C	3.967	-0.009158	0.07727	0.0	4.65E-4	ENSG00000174945	ENST00000312371	T	0.24538	1.85	4.85	1.97	0.26223	.	0.709020	0.13103	N	0.413587	T	0.13286	0.0322	N	0.25485	0.75	0.09310	N	1	P	0.34587	0.458	B	0.19391	0.025	T	0.15378	-1.0439	10	0.44086	T	0.13	-2.7161	5.6778	0.17759	0.0:0.6387:0.1769:0.1844	.	328	Q400G9	AMZ1_HUMAN	M	328	ENSP00000308149:T328M	ENSP00000308149:T328M	T	+	2	0	AMZ1	2718524	0.000000	0.05858	0.000000	0.03702	0.049000	0.14656	0.623000	0.24447	0.089000	0.17243	0.462000	0.41574	ACG		0.662	AMZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325244.1	NM_133463		10	17	0	0	0	1	0	10	17					T	2751998	C	T	2751998	3	4	305	1	0	0	0	0	1	0	0	0	596	536	19	1	1005	1	AMZ1	7	2751998	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	60143	2751998	156386665	409	14926											
SDK1	221935	broad.mit.edu	37	chr7	3998621	3998622	+	Frame_Shift_Del	DEL	TG	TG	-																															tcagctgaagtagaagaaacTgtggacatcggatgtcaagc																										TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr7:3998621_3998622delTG	ENST00000404826.2	+	8	1348_1349	c.1209_1210delTG	c.(1207-1212)actgtgfs	p.V404fs	SDK1_ENST00000389531.3_Frame_Shift_Del_p.V404fs	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	404	Ig-like C2-type 4.				cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		TAGAAGAAACTGTGGACATCGG	0.465																																						ENST00000404826.2																			0				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153						c.(1207-1212)actgfs		sidekick cell adhesion molecule 1																																				SO:0001589	frameshift_variant	221935				cell adhesion	integral to membrane		g.chr7:3998621_3998622delTG	AK074077	CCDS34590.1	7p22.3	2013-02-11	2011-12-09		ENSG00000146555	ENSG00000146555		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	19307	protein-coding gene	gene with protein product		607216	"sidekick homolog 1 (chicken)", "sidekick homolog 1, cell adhesion molecule (chicken)"			12230981, 17307840, 15213259	Standard	NM_001079653		Approved	FLJ31425	uc003smx.3	Q7Z5N4	OTTHUMG00000151733	ENST00000404826.2:c.1209_1210delTG	7.37:g.3998623_3998624delTG	ENSP00000385899:p.Val404fs					SDK1_ENST00000389531.3_Frame_Shift_Del_p.TV403fs	p.TV403fs	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)	8	1348_1349	+		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)	403			Ig-like C2-type 4.		Q8TEN9|Q8TEP5|Q96N44	Frame_Shift_Del	DEL	ENST00000404826.2	37	c.1209_1210delTG	CCDS34590.1																																																																																				0.465	SDK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323702.1	NM_152744		35	127						35	127	---	---	---	---	-	3998622	TG	-	3998621	7	5	305	1	0	1	0	1	0	0	0	0	13968	1567	55	0	1239	0	SDK1	7	3998621	Frame_Shift_Del	DEL	TG	TCGA-KK-A59V-01A-11D-A29Q-08	1246623	3998621	155140042	410	14927											
SDK1	221935	broad.mit.edu	37	chr7	4185504	4185504	+	Frame_Shift_Del	DEL	G	G	-																															cgccaagacgaggcagggctGgggggagccactggaggcca																										TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr7:4185504delG	ENST00000404826.2	+	29	4518	c.4379delG	c.(4378-4380)tggfs	p.W1460fs	SDK1_ENST00000389531.3_Frame_Shift_Del_p.W1460fs	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	1460	Fibronectin type-III 8. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		AGGCAGGGCTGGGGGGAGCCA	0.642																																						ENST00000404826.2																			0				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153						c.(4378-4380)tgfs		sidekick cell adhesion molecule 1																																				SO:0001589	frameshift_variant	221935				cell adhesion	integral to membrane		g.chr7:4185504delG	AK074077	CCDS34590.1	7p22.3	2013-02-11	2011-12-09		ENSG00000146555	ENSG00000146555		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	19307	protein-coding gene	gene with protein product		607216	"sidekick homolog 1 (chicken)", "sidekick homolog 1, cell adhesion molecule (chicken)"			12230981, 17307840, 15213259	Standard	NM_001079653		Approved	FLJ31425	uc003smx.3	Q7Z5N4	OTTHUMG00000151733	ENST00000404826.2:c.4379delG	7.37:g.4185504delG	ENSP00000385899:p.Trp1460fs					SDK1_ENST00000389531.3_Frame_Shift_Del_p.W1460fs	p.W1460fs	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)	29	4518	+		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)	1460			Fibronectin type-III 8.		Q8TEN9|Q8TEP5|Q96N44	Frame_Shift_Del	DEL	ENST00000404826.2	37	c.4379delG	CCDS34590.1																																																																																				0.642	SDK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323702.1	NM_152744		38	70						38	70	---	---	---	---	-	4185504	G	-	4185504	7	5	305	1	0	1	0	1	0	0	0	0	13968	1357	47	0	4493	0	SDK1	7	4185504	Frame_Shift_Del	DEL	G	TCGA-KK-A59V-01A-11D-A29Q-08	186883	4185504	154953159	411	14928											
RNF216	54476	broad.mit.edu	37	chr7	5662502	5662502	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcggggccatcagaagcgatGccgcggctgggggccaaagt	8	5	17	11	4	1	1	1	0	0	1	2	2	1	1	3	5	2	1	3	5	2	0			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr7:5662502G>A	ENST00000425013.2	-	17	2814	c.2590C>T	c.(2590-2592)Cat>Tat	p.H864Y	RNF216_ENST00000389902.3_Missense_Mutation_p.H921Y|RNF216_ENST00000469375.1_5'Flank	NM_207111.3|NM_207116.2	NP_996994.1|NP_996999.1	Q9NWF9	RN216_HUMAN	ring finger protein 216	864					apoptotic process (GO:0006915)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K48-linked ubiquitination (GO:0070936)|regulation of defense response to virus by host (GO:0050691)|regulation of interferon-beta production (GO:0032648)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)		FBXL18/RNF216(2)	breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)|skin(1)|urinary_tract(4)	33		Ovarian(82;0.07)		UCEC - Uterine corpus endometrioid carcinoma (126;0.135)|OV - Ovarian serous cystadenocarcinoma(56;2.69e-13)		CAGAAGCGATGCCGCGGCTGG	0.622																																						ENST00000425013.2																		FBXL18/RNF216(2)	0				breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)|skin(1)|urinary_tract(4)	33						c.(2590-2592)Cat>Tat		ring finger protein 216							92	106	101					7																	5662502		2203	4300	6503	SO:0001583	missense	54476				apoptosis|interspecies interaction between organisms|proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked ubiquitination|regulation of defense response to virus by host|regulation of interferon-beta production	cytoplasm|nucleus	ligase activity|protein binding|zinc ion binding	g.chr7:5662502G>A	AY062174	CCDS34594.1, CCDS34595.1	7p22.1	2014-02-12	2007-08-20		ENSG00000011275	ENSG00000011275		"RING-type (C3HC4) zinc fingers"	21698	protein-coding gene	gene with protein product		609948					Standard	NM_207111		Approved	TRIAD3, UBCE7IP1, ZIN	uc003sox.2	Q9NWF9	OTTHUMG00000155500	ENST00000425013.2:c.2590C>T	7.37:g.5662502G>A	ENSP00000404602:p.His864Tyr					RNF216_ENST00000389902.3_Missense_Mutation_p.H921Y	p.H864Y	NM_207111.3|NM_207116.2	NP_996994.1|NP_996999.1	Q9NWF9	RN216_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.135)|OV - Ovarian serous cystadenocarcinoma(56;2.69e-13)	17	2814	-		Ovarian(82;0.07)	864					Q6Y691|Q75ML7|Q7Z2H7|Q7Z7C1|Q8NHW7|Q9NYT1	Missense_Mutation	SNP	ENST00000425013.2	37	c.2590C>T	CCDS34595.1	.	.	.	.	.	.	.	.	.	.	G	18.72	3.684214	0.68157	.	.	ENSG00000011275	ENST00000425013;ENST00000389902;ENST00000458425	T;T	0.52754	0.66;0.65	4.89	4.89	0.63831	.	0.115346	0.64402	D	0.000020	T	0.63058	0.2479	L	0.47716	1.5	0.43750	D	0.996258	D;D	0.71674	0.996;0.998	D;D	0.80764	0.937;0.994	T	0.66333	-0.5950	10	0.87932	D	0	-9.2253	16.9527	0.86250	0.0:0.0:1.0:0.0	.	864;921	Q9NWF9;Q9NWF9-1	RN216_HUMAN;.	Y	864;921;676	ENSP00000404602:H864Y;ENSP00000374552:H921Y	ENSP00000374552:H921Y	H	-	1	0	RNF216	5629028	1.000000	0.71417	0.997000	0.53966	0.657000	0.38888	6.988000	0.76212	2.411000	0.81874	0.561000	0.74099	CAT		0.622	RNF216-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000340374.1	NM_207111		10	243	0	0	0	1	0	10	243					A	5662502	G	A	5662502	3	1	305	1	0	0	0	0	1	0	0	0	13480	1319	46	3	14	3	RNF216	7	5662502	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	1476998	5662502	153476161	412	14929											
CYTH3	9265	broad.mit.edu	37	chr7	6204578	6204578	+	Frame_Shift_Del	DEL	T	T	-																															tcttttagccaggaaagctaTtttttattggcaatccttcg																										TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr7:6204578delT	ENST00000350796.3	-	13	1333	c.1197delA	c.(1195-1197)aaafs	p.K399fs	CYTH3_ENST00000396741.2_Frame_Shift_Del_p.K314fs|CYTH3_ENST00000488964.1_5'Flank	NM_004227.3	NP_004218.1	O43739	CYH3_HUMAN	cytohesin 3	400	C-terminal autoinhibitory region.				establishment of epithelial cell polarity (GO:0090162)|Golgi vesicle transport (GO:0048193)|positive regulation of cell adhesion (GO:0045785)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)|regulation of cell adhesion (GO:0030155)	cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|urinary_tract(1)	19						AGGAAAGCTATTTTTTATTGG	0.532																																						ENST00000350796.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|urinary_tract(1)	19						c.(1195-1197)aafs		cytohesin 3							245	257	253					7																	6204578		2203	4300	6503	SO:0001589	frameshift_variant	9265				regulation of ARF protein signal transduction|regulation of cell adhesion|vesicle-mediated transport	cytoplasm|membrane fraction|plasma membrane	1-phosphatidylinositol binding|ARF guanyl-nucleotide exchange factor activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity	g.chr7:6204578delT	AJ223957	CCDS5346.1	7p22.1	2014-05-02	2008-08-14	2008-08-14	ENSG00000008256	ENSG00000008256		"Pleckstrin homology (PH) domain containing"	9504	protein-coding gene	gene with protein product		605081	"pleckstrin homology, Sec7 and coiled-coil domains 3"	PSCD3		9072969	Standard	NM_004227		Approved	GRP1, ARNO3, cytohesin-3	uc003spt.3	O43739	OTTHUMG00000023440	ENST00000350796.3:c.1197delA	7.37:g.6204578delT	ENSP00000297044:p.Lys399fs					CYTH3_ENST00000396741.2_Frame_Shift_Del_p.K314fs	p.K399fs	NM_004227.3	NP_004218.1	O43739	CYH3_HUMAN			13	1333	-			400					A4D2N8	Frame_Shift_Del	DEL	ENST00000350796.3	37	c.1197delA	CCDS5346.1																																																																																				0.532	CYTH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207396.2	NM_004227		14	521						14	521	---	---	---	---	-	6204578	T	-	6204578	7	5	305	1	0	1	0	1	0	0	0	0	4205	1490	52	0	6	0	CYTH3	7	6204578	Frame_Shift_Del	DEL	T	TCGA-KK-A59V-01A-11D-A29Q-08	542076	6204578	152934085	413	14930											
C7orf26	79034	broad.mit.edu	37	chr7	6639708	6639708	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggtcacaaaggacccgggcGtggggatggacagagactcc	11	4	16	10	2	1	1	1	0	0	1	2	5	2	4	2	6	0	0	2	6	1	0			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr7:6639708G>A	ENST00000344417.5	+	4	1096	c.829G>A	c.(829-831)Gtg>Atg	p.V277M	C7orf26_ENST00000359073.5_Intron|C7orf26_ENST00000472693.1_3'UTR	NM_024067.2	NP_076972.2	Q96N11	CG026_HUMAN	chromosome 7 open reading frame 26	277										endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|skin(1)	11		Ovarian(82;0.232)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)		GGACCCGGGCGTGGGGATGGA	0.552																																						ENST00000344417.5																			0				endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|skin(1)	11						c.(829-831)Gtg>Atg		chromosome 7 open reading frame 26							60	49	52					7																	6639708		2203	4300	6503	SO:0001583	missense	79034							g.chr7:6639708G>A	BC005121	CCDS5353.1	7p22.1	2011-11-24			ENSG00000146576	ENSG00000146576			21702	protein-coding gene	gene with protein product							Standard	NM_024067		Approved	MGC2718	uc003sqo.1	Q96N11	OTTHUMG00000125517	ENST00000344417.5:c.829G>A	7.37:g.6639708G>A	ENSP00000340220:p.Val277Met					C7orf26_ENST00000472693.1_3'UTR|C7orf26_ENST00000359073.5_Intron	p.V277M	NM_024067.2	NP_076972.2	Q96N11	CG026_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)	4	1096	+		Ovarian(82;0.232)	277					Q9BQ43	Missense_Mutation	SNP	ENST00000344417.5	37	c.829G>A	CCDS5353.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	2.591|2.591	-0.295232|-0.295232	0.05532|0.05532	.|.	.|.	ENSG00000146576|ENSG00000146576	ENST00000445375|ENST00000344417	.|T	.|0.46451	.|0.87	3.6|3.6	-2.37|-2.37	0.06643|0.06643	.|.	.|1.843390	.|0.02979	.|N	.|0.145361	T|T	0.21962|0.21962	0.0529|0.0529	N|N	0.08118|0.08118	0|0	0.09310|0.09310	N|N	1|1	.|B	.|0.02656	.|0.0	.|B	.|0.01281	.|0.0	T|T	0.17198|0.17198	-1.0377|-1.0377	5|10	.|0.45353	.|T	.|0.12	-0.0072|-0.0072	4.2174|4.2174	0.10540|0.10540	0.4645:0.1781:0.3574:0.0|0.4645:0.1781:0.3574:0.0	.|.	.|277	.|Q96N11	.|CG026_HUMAN	H|M	14|277	.|ENSP00000340220:V277M	.|ENSP00000340220:V277M	R|V	+|+	2|1	0|0	C7orf26|C7orf26	6606233|6606233	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.248000|0.248000	0.25809|0.25809	0.116000|0.116000	0.15561|0.15561	-0.303000|-0.303000	0.08856|0.08856	-0.266000|-0.266000	0.10368|0.10368	CGT|GTG		0.552	C7orf26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246844.2	NM_024067		12	48	0	0	0	1	0	12	48					A	6639708	G	A	6639708	3	1	305	1	0	0	0	0	1	0	0	0	2381	1145	40	1	843	1	C7orf26	7	6639708	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	435130	6639708	152498955	414	14931											
GLCCI1	113263	broad.mit.edu	37	chr7	8126004	8126004	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagctttggcaactctgaccGttgagcagctctcatcccgg	7	10	10	14	2	2	2	1	2	2	0	4	2	3	2	2	2	4	5	2	2	1	2	rs374066040		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr7:8126004G>A	ENST00000223145.5	+	8	2037	c.1480G>A	c.(1480-1482)Gtt>Att	p.V494I		NM_138426.3	NP_612435.1	Q86VQ1	GLCI1_HUMAN	glucocorticoid induced transcript 1	494						cytoplasm (GO:0005737)				endometrium(4)|large_intestine(4)|lung(13)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	25		Ovarian(82;0.0608)		UCEC - Uterine corpus endometrioid carcinoma (126;0.206)		AACTCTGACCGTTGAGCAGCT	0.552																																						ENST00000223145.5																			0				endometrium(4)|large_intestine(4)|lung(13)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	25						c.(1480-1482)Gtt>Att		glucocorticoid induced transcript 1		G	ILE/VAL	0,4406		0,0,2203	191	208	203		1480	3.5	0.6	7		203	1,8599	1.2+/-3.3	0,1,4299	no	missense	GLCCI1	NM_138426.2	29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging	494/548	8126004	1,13005	2203	4300	6503	SO:0001583	missense	113263							g.chr7:8126004G>A	BC050291	CCDS34601.1	7p22.2	2008-08-18			ENSG00000106415	ENSG00000106415			18713	protein-coding gene	gene with protein product		614283					Standard	NM_138426		Approved	GIG18, FAM117C, TSSN1	uc003srk.4	Q86VQ1	OTTHUMG00000151984	ENST00000223145.5:c.1480G>A	7.37:g.8126004G>A	ENSP00000223145:p.Val494Ile						p.V494I	NM_138426.3	NP_612435.1	Q86VQ1	GLCI1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.206)	8	2037	+		Ovarian(82;0.0608)	494					A4D103|Q96FD0	Missense_Mutation	SNP	ENST00000223145.5	37	c.1480G>A	CCDS34601.1	.	.	.	.	.	.	.	.	.	.	G	13.16	2.155287	0.38021	0.0	1.16E-4	ENSG00000106415	ENST00000223145	.	.	.	5.32	3.52	0.40303	.	0.448294	0.24215	N	0.040481	T	0.39886	0.1095	N	0.22421	0.69	0.42198	D	0.991752	B	0.27971	0.196	B	0.14578	0.011	T	0.22730	-1.0208	9	0.35671	T	0.21	-30.1131	11.7827	0.52023	0.1412:0.0:0.8588:0.0	.	494	Q86VQ1	GLCI1_HUMAN	I	494	.	ENSP00000223145:V494I	V	+	1	0	GLCCI1	8092529	1.000000	0.71417	0.644000	0.29465	0.179000	0.23085	2.871000	0.48459	0.941000	0.37499	0.655000	0.94253	GTT		0.552	GLCCI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324672.1	NM_138426		38	408	0	0	0	1	0	38	408					A	8126004	G	A	8126004	3	1	305	1	0	0	0	0	1	0	0	0	6431	1145	40	1	1510	1	GLCCI1	7	8126004	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	1486296	8126004	151012659	415	14932											
ETV1	2115	broad.mit.edu	37	chr7	13949263	13949263	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agtgtaaaacctaccatcgaAtttttctgggacaacacagg	14	10	8	9	1	1	0	0	0	1	0	2	2	1	1	2	2	3	1	2	2	5	4			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr7:13949263A>T	ENST00000430479.1	-	11	1601	c.934T>A	c.(934-936)Ttc>Atc	p.F312I	ETV1_ENST00000405358.4_Missense_Mutation_p.F326I|ETV1_ENST00000420159.2_Missense_Mutation_p.F254I|ETV1_ENST00000405218.2_Missense_Mutation_p.F312I|ETV1_ENST00000242066.5_Missense_Mutation_p.F294I|ETV1_ENST00000403527.1_Missense_Mutation_p.F272I|ETV1_ENST00000399357.3_Missense_Mutation_p.F209I|ETV1_ENST00000343495.5_Missense_Mutation_p.F294I|ETV1_ENST00000405192.2_Missense_Mutation_p.F289I|ETV1_ENST00000403685.1_Missense_Mutation_p.F294I|ETV1_ENST00000476720.2_5'Flank	NM_004956.4	NP_004947.2	P50549	ETV1_HUMAN	ets variant 1	312					axon guidance (GO:0007411)|cell differentiation (GO:0030154)|mechanosensory behavior (GO:0007638)|muscle organ development (GO:0007517)|peripheral nervous system neuron development (GO:0048935)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)		TMPRSS2/ETV1(34)|ACSL3_ENST00000357430/ETV1(2)|EWSR1/ETV1(7)|KLK2/ETV1(3)|SLC45A3/ETV1(3)|HNRNPA2B1/ETV1(8)	breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	31						CTACCATCGAATTTTTCTGGG	0.383			T	"EWSR1, TMPRSS2, SLC45A3, C15orf21, HNRNPA2B1. ACSL3"	"Ewing sarcoma, prostate"																																	ENST00000343495.5				Dom	yes		7	7p22	2115	T	ets variant gene 1			"M, E"	"EWSR1, TMPRSS2, SLC45A3, C15orf21, HNRNPA2B1. ACSL3"		"Ewing sarcoma, prostate"	TMPRSS2/ETV1(34)|ACSL3_ENST00000357430/ETV1(2)|EWSR1/ETV1(7)|KLK2/ETV1(3)|SLC45A3/ETV1(3)|HNRNPA2B1/ETV1(8)	0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	31						c.(880-882)Ttc>Atc		ets variant 1							108	106	107					7																	13949263		1825	4076	5901	SO:0001583	missense	2115				transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:13949263A>T		CCDS55083.1, CCDS55084.1, CCDS55085.1, CCDS55086.1, CCDS55087.1, CCDS55088.1	7p22	2008-09-12	2008-09-12		ENSG00000006468	ENSG00000006468			3490	protein-coding gene	gene with protein product		600541	"ets variant gene 1"			1340465	Standard	NM_004956		Approved	ER81	uc003ssw.4	P50549	OTTHUMG00000152403	ENST00000430479.1:c.934T>A	7.37:g.13949263A>T	ENSP00000405327:p.Phe312Ile					ETV1_ENST00000430479.1_Missense_Mutation_p.F312I|ETV1_ENST00000405218.2_Missense_Mutation_p.F312I|ETV1_ENST00000403685.1_Missense_Mutation_p.F294I|ETV1_ENST00000405192.2_Missense_Mutation_p.F289I|ETV1_ENST00000399357.3_Missense_Mutation_p.F209I|ETV1_ENST00000242066.5_Missense_Mutation_p.F294I|ETV1_ENST00000420159.2_Missense_Mutation_p.F254I|ETV1_ENST00000403527.1_Missense_Mutation_p.F272I|ETV1_ENST00000405358.4_Missense_Mutation_p.F326I	p.F294I			P50549	ETV1_HUMAN			10	1618	-			312					A4D118|B2R768|B7Z2I4|B7Z618|B7Z9P2|C9JT37|E9PHB1|F5GXR2|O75849|Q4KMQ6|Q59GA7|Q6AI30|Q9UQ71|Q9Y636	Missense_Mutation	SNP	ENST00000430479.1	37	c.880T>A	CCDS55088.1	.	.	.	.	.	.	.	.	.	.	A	27.7	4.851588	0.91355	.	.	ENSG00000006468	ENST00000430479;ENST00000242066;ENST00000343495;ENST00000420159;ENST00000399357;ENST00000405192;ENST00000405358;ENST00000403527;ENST00000405218;ENST00000403685;ENST00000438956	T;T;T;T;T;T;T;T;T;T;T	0.23754	1.89;1.89;1.89;1.89;1.89;1.89;1.89;1.89;1.89;1.89;1.89	5.98	5.98	0.97165	Winged helix-turn-helix transcription repressor DNA-binding (1);PEA3-type ETS-domain transcription factor, N-terminal (1);	0.153108	0.64402	D	0.000014	T	0.49064	0.1535	M	0.61703	1.905	0.39563	D	0.969163	B;B;D;D;B;D;B	0.64830	0.27;0.108;0.961;0.992;0.24;0.994;0.372	B;B;P;D;B;D;B	0.75020	0.085;0.055;0.621;0.974;0.209;0.985;0.14	T	0.46048	-0.9219	10	0.45353	T	0.12	.	16.4696	0.84102	1.0:0.0:0.0:0.0	.	300;294;326;254;209;272;312	Q59GA7;P50549-2;B5MCT2;F5GXR2;B7Z9P2;E9PHB1;P50549	.;.;.;.;.;.;ETV1_HUMAN	I	312;294;294;254;209;289;326;272;312;294;254	ENSP00000405327:F312I;ENSP00000242066:F294I;ENSP00000340853:F294I;ENSP00000411626:F254I;ENSP00000382293:F209I;ENSP00000385381:F289I;ENSP00000384085:F326I;ENSP00000384138:F272I;ENSP00000385551:F312I;ENSP00000385686:F294I;ENSP00000393078:F254I	ENSP00000242066:F294I	F	-	1	0	ETV1	13915788	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	5.641000	0.67881	2.289000	0.77006	0.482000	0.46254	TTC		0.383	ETV1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326111.1	NM_004956		6	140	0	0	0	1	0	6	140					T	13949263	A	T	13949263	3	4	305	1	0	0	0	0	1	0	0	0	5277	101	4	5	515	5	ETV1	7	13949263	Missense_Mutation	SNP	A	TCGA-KK-A59V-01A-11D-A29Q-08	5823259	13949263	145189400	416	14933											
DGKB	1607	broad.mit.edu	37	chr7	14647099	14647099	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agaaagactgtaaacctgacGaggatttaatagatactgga	17	9	10	5	1	0	4	0	1	0	3	0	7	0	6	1	2	2	1	1	2	6	5			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr7:14647099G>A	ENST00000403951.2	-	17	1815	c.1396C>T	c.(1396-1398)Cgt>Tgt	p.R466C	DGKB_ENST00000399322.3_Missense_Mutation_p.R466C|DGKB_ENST00000407950.1_Missense_Mutation_p.R458C|DGKB_ENST00000444700.2_Missense_Mutation_p.R447C|DGKB_ENST00000258767.5_Missense_Mutation_p.R466C|DGKB_ENST00000402815.1_Missense_Mutation_p.R465C|DGKB_ENST00000403963.1_5'UTR|DGKB_ENST00000406247.3_Missense_Mutation_p.R466C			Q9Y6T7	DGKB_HUMAN	diacylglycerol kinase, beta 90kDa	466	DAGKc. {ECO:0000255|PROSITE- ProRule:PRU00783}.				blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|diacylglycerol kinase activity (GO:0004143)|NAD+ kinase activity (GO:0003951)	p.R466G(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(34)|ovary(4)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72						TAAACCTGACGAGGATTTAAT	0.279																																						ENST00000403951.2																			1	Substitution - Missense(1)	p.R466G(1)	ovary(1)	NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(34)|ovary(4)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72						c.(1396-1398)Cgt>Tgt		diacylglycerol kinase, beta 90kDa	Phosphatidylserine(DB00144)						51	48	49					7																	14647099		1786	4052	5838	SO:0001583	missense	1607				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	cytoplasm|plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity|protein binding	g.chr7:14647099G>A	AB018261	CCDS47547.1, CCDS47548.1	7p21.2	2013-01-10	2002-08-29		ENSG00000136267	ENSG00000136267	2.7.1.107	"EF-hand domain containing"	2850	protein-coding gene	gene with protein product		604070	"diacylglycerol kinase, beta (90kD)"	DAGK2		7689223	Standard	NM_004080		Approved	KIAA0718, DGK, DGK-BETA	uc003ssz.3	Q9Y6T7	OTTHUMG00000152477	ENST00000403951.2:c.1396C>T	7.37:g.14647099G>A	ENSP00000385780:p.Arg466Cys					DGKB_ENST00000406247.3_Missense_Mutation_p.R466C|DGKB_ENST00000402815.1_Missense_Mutation_p.R465C|DGKB_ENST00000258767.5_Missense_Mutation_p.R466C|DGKB_ENST00000444700.2_Missense_Mutation_p.R447C|DGKB_ENST00000399322.3_Missense_Mutation_p.R466C|DGKB_ENST00000403963.1_5'UTR|DGKB_ENST00000407950.1_Missense_Mutation_p.R458C	p.R466C			Q9Y6T7	DGKB_HUMAN			17	1815	-			466			DAGKc.		A4D116|A4D117|A8MXU2|O75241|Q2M377|Q75MF9|Q75MU7|Q86UI5|Q86UM9|Q9UQ29	Missense_Mutation	SNP	ENST00000403951.2	37	c.1396C>T	CCDS47547.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.032001	0.75504	.	.	ENSG00000136267	ENST00000403951;ENST00000399322;ENST00000258767;ENST00000402815;ENST00000407950;ENST00000444700;ENST00000406247	T;T;T;T;T;T;T	0.42131	0.98;0.98;0.98;0.98;0.98;0.98;0.98	5.6	5.6	0.85130	Diacylglycerol kinase, catalytic domain (3);	0.000000	0.85682	D	0.000000	T	0.68054	0.2959	M	0.85299	2.745	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.989;0.997;0.999;1.0	T	0.71836	-0.4472	10	0.66056	D	0.02	.	14.772	0.69688	0.0:0.0:0.8556:0.1444	.	465;447;466;466	B7ZL83;C9JTC0;Q9Y6T7-2;Q9Y6T7	.;.;.;DGKB_HUMAN	C	466;466;466;465;458;447;466	ENSP00000385780:R466C;ENSP00000382260:R466C;ENSP00000258767:R466C;ENSP00000384909:R465C;ENSP00000385031:R458C;ENSP00000388451:R447C;ENSP00000386066:R466C	ENSP00000258767:R466C	R	-	1	0	DGKB	14613624	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.070000	0.57548	2.786000	0.95864	0.561000	0.74099	CGT		0.279	DGKB-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000326356.2	NM_004080		13	24	0	0	0	1	0	13	24					A	14647099	G	A	14647099	3	1	305	1	0	0	0	0	1	0	0	0	4466	1058	37	2	1073	2	DGKB	7	14647099	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	697836	14647099	144491564	417	14934											
AGR3	155465	broad.mit.edu	37	chr7	16913405	16913405	+	Splice_Site	DEL	T	T	-																															gagctgagaagcatgttaccTtttttgagcataaaagagac																										TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr7:16913405delT	ENST00000310398.2	-	3	242	c.172delA	c.(172-174)agt>gt	p.S58fs	AGR3_ENST00000402239.3_Splice_Site_p.S58fs	NM_176813.3	NP_789783.1	Q8TD06	AGR3_HUMAN	anterior gradient 3	58						extracellular region (GO:0005576)	dystroglycan binding (GO:0002162)			central_nervous_system(1)|kidney(8)|lung(2)|skin(1)|stomach(1)	13	Lung NSC(10;0.0376)|all_lung(11;0.0721)|all_epithelial(12;0.202)			UCEC - Uterine corpus endometrioid carcinoma (126;0.184)		GCATGTTACCTTTTTTGAGCA	0.333																																						ENST00000310398.2																			0				central_nervous_system(1)|kidney(8)|lung(2)|skin(1)|stomach(1)	13						c.e3+1		anterior gradient 3							103	102	102					7																	16913405		2203	4300	6503	SO:0001630	splice_region_variant	155465					extracellular region		g.chr7:16913405delT	AY069977	CCDS5365.1	7p21.1	2013-07-31	2013-07-31		ENSG00000173467	ENSG00000173467		"Protein disulfide isomerases"	24167	protein-coding gene	gene with protein product	"breast cancer membrane protein 11", "protein disulfide isomerase family A, member 18"	609482	"anterior gradient 3 homolog (Xenopus laevis)"			12592373, 12477722	Standard	NM_176813		Approved	HAG3, hAG-3, BCMP11, PDIA18	uc003sts.3	Q8TD06	OTTHUMG00000128411	ENST00000310398.2:c.173+1A>-	7.37:g.16913405delT						AGR3_ENST00000402239.3_Splice_Site_p.S58_splice	p.S58_splice	NM_176813.3	NP_789783.1	Q8TD06	AGR3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.184)	3	242	-	Lung NSC(10;0.0376)|all_lung(11;0.0721)|all_epithelial(12;0.202)		58					A4D120	Splice_Site	DEL	ENST00000310398.2	37	c.173_splice	CCDS5365.1																																																																																				0.333	AGR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250191.2	NM_176813	Frame_Shift_Del	22	47						22	47	---	---	---	---	-	16913405	T	-	16913405	8	5	305	1	0	1	0	1	0	0	1	0	396	1623	56	0	352	0	AGR3	7	16913405	Splice_Site	DEL	T	TCGA-KK-A59V-01A-11D-A29Q-08	2266306	16913405	142225258	418	14935											
IL6	3569	broad.mit.edu	37	chr7	22767150	22767150	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	agtacccccaggagaagattCcaaagatgtagccgccccac	13	5	9	14	1	0	3	0	0	0	3	1	4	1	3	6	1	2	2	6	1	4	3			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr7:22767150C>T	ENST00000404625.1	+	3	566	c.107C>T	c.(106-108)tCc>tTc	p.S36F	IL6_ENST00000406575.1_Missense_Mutation_p.S36F|AC073072.5_ENST00000325042.2_RNA|IL6_ENST00000420258.2_Missense_Mutation_p.S90F|IL6_ENST00000258743.5_Missense_Mutation_p.S36F|IL6_ENST00000407492.1_Intron|IL6_ENST00000401630.3_Missense_Mutation_p.S13F|IL6_ENST00000401651.1_Intron			P05231	IL6_HUMAN	interleukin 6	36					acute-phase response (GO:0006953)|aging (GO:0007568)|bone remodeling (GO:0046849)|branching involved in salivary gland morphogenesis (GO:0060445)|cell growth (GO:0016049)|cell redox homeostasis (GO:0045454)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to lipopolysaccharide (GO:0071222)|cytokine-mediated signaling pathway (GO:0019221)|defense response to Gram-negative bacterium (GO:0050829)|defense response to Gram-positive bacterium (GO:0050830)|defense response to protozoan (GO:0042832)|defense response to virus (GO:0051607)|endocrine pancreas development (GO:0031018)|epithelial cell proliferation involved in salivary gland morphogenesis (GO:0060664)|glucagon secretion (GO:0070091)|hepatic immune response (GO:0002384)|humoral immune response (GO:0006959)|inflammatory response (GO:0006954)|interleukin-6-mediated signaling pathway (GO:0070102)|monocyte chemotaxis (GO:0002548)|muscle cell cellular homeostasis (GO:0046716)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chemokine biosynthetic process (GO:0045079)|negative regulation of collagen biosynthetic process (GO:0032966)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of cytokine secretion (GO:0050710)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of gluconeogenesis (GO:0045721)|negative regulation of hormone secretion (GO:0046888)|negative regulation of lipid storage (GO:0010888)|negative regulation of muscle organ development (GO:0048635)|negative regulation of neuron death (GO:1901215)|negative regulation of protein kinase activity (GO:0006469)|neuron projection development (GO:0031175)|neutrophil apoptotic process (GO:0001781)|neutrophil mediated immunity (GO:0002446)|platelet activation (GO:0030168)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of apoptotic process (GO:0043065)|positive regulation of B cell activation (GO:0050871)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chemokine production (GO:0032722)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of immunoglobulin secretion (GO:0051024)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of leukocyte chemotaxis (GO:0002690)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein import into nucleus, translocation (GO:0033160)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of STAT protein import into nucleus (GO:2000366)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of T-helper 2 cell differentiation (GO:0045630)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of translation (GO:0045727)|positive regulation of transmission of nerve impulse (GO:0051971)|positive regulation of type B pancreatic cell apoptotic process (GO:2000676)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|regulation of angiogenesis (GO:0045765)|regulation of cell shape (GO:0008360)|regulation of circadian sleep/wake cycle, non-REM sleep (GO:0045188)|regulation of vascular endothelial growth factor production (GO:0010574)|response to amino acid (GO:0043200)|response to antibiotic (GO:0046677)|response to caffeine (GO:0031000)|response to calcium ion (GO:0051592)|response to cold (GO:0009409)|response to drug (GO:0042493)|response to electrical stimulus (GO:0051602)|response to glucocorticoid (GO:0051384)|response to heat (GO:0009408)|response to insulin (GO:0032868)|response to mechanical stimulus (GO:0009612)|response to nutrient levels (GO:0031667)|response to peptidoglycan (GO:0032494)|T-helper 17 cell lineage commitment (GO:0072540)	external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|interleukin-6 receptor complex (GO:0005896)	cytokine activity (GO:0005125)|growth factor activity (GO:0008083)|interleukin-6 receptor binding (GO:0005138)			breast(1)|endometrium(2)|large_intestine(4)|lung(1)	8					Ginseng(DB01404)	GGAGAAGATTCCAAAGATGTA	0.587																																					Esophageal Squamous(47;342 1214 13936 33513)	ENST00000404625.1																			0				breast(1)|endometrium(2)|large_intestine(4)|lung(1)	8						c.(106-108)tCc>tTc		interleukin 6 (interferon, beta 2)	Arsenic trioxide(DB01169)|Bicalutamide(DB01128)|Ginseng(DB01404)|Simvastatin(DB00641)						79	81	80					7																	22767150		2203	4300	6503	SO:0001583	missense	3569				acute-phase response|cellular response to hydrogen peroxide|defense response to Gram-negative bacterium|defense response to Gram-positive bacterium|defense response to virus|endocrine pancreas development|glucagon secretion|hepatic immune response|interleukin-6-mediated signaling pathway|negative regulation of apoptosis|negative regulation of cell proliferation|negative regulation of chemokine biosynthetic process|negative regulation of collagen biosynthetic process|negative regulation of fat cell differentiation|negative regulation of lipid storage|neuron projection development|neutrophil apoptosis|platelet activation|positive regulation of acute inflammatory response|positive regulation of anti-apoptosis|positive regulation of B cell activation|positive regulation of chemokine production|positive regulation of immunoglobulin secretion|positive regulation of interleukin-6 production|positive regulation of osteoblast differentiation|positive regulation of peptidyl-serine phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of smooth muscle cell proliferation|positive regulation of T cell proliferation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of translation|positive regulation of tyrosine phosphorylation of Stat3 protein|regulation of vascular endothelial growth factor production|response to glucocorticoid stimulus|response to peptidoglycan	extracellular space|interleukin-6 receptor complex	cytokine activity|growth factor activity|interleukin-6 receptor binding	g.chr7:22767150C>T	M18403	CCDS5375.1	7p21-p15	2014-04-04	2014-04-04		ENSG00000136244	ENSG00000136244		"Interleukins and interleukin receptors", "Interferons"	6018	protein-coding gene	gene with protein product	"interferon, beta 2"	147620	"interleukin 6 (interferon, beta 2)"	IFNB2		3294161	Standard	NM_000600		Approved	IL-6, BSF2, HGF, HSF	uc003svj.4	P05231	OTTHUMG00000023178	ENST00000404625.1:c.107C>T	7.37:g.22767150C>T	ENSP00000385675:p.Ser36Phe					IL6_ENST00000401651.1_Intron|AC073072.5_ENST00000325042.2_RNA|IL6_ENST00000258743.5_Missense_Mutation_p.S36F|IL6_ENST00000401630.3_Missense_Mutation_p.S13F|IL6_ENST00000420258.2_Missense_Mutation_p.S90F|IL6_ENST00000407492.1_Intron|IL6_ENST00000406575.1_Missense_Mutation_p.S36F	p.S36F			P05231	IL6_HUMAN			3	566	+			36					Q9UCU2|Q9UCU3|Q9UCU4	Missense_Mutation	SNP	ENST00000404625.1	37	c.107C>T	CCDS5375.1	.	.	.	.	.	.	.	.	.	.	C	8.634	0.894349	0.17613	.	.	ENSG00000136244	ENST00000404625;ENST00000426291;ENST00000258743;ENST00000420258;ENST00000401630;ENST00000406575	T;T;T;T;T;T	0.77229	-1.08;-1.08;-1.08;0.82;1.71;-1.08	5.29	0.0441	0.14224	.	1.045680	0.07377	N	0.886759	T	0.60077	0.2241	N	0.19112	0.55	0.09310	N	1	B;B;B	0.26483	0.15;0.041;0.021	B;B;B	0.22601	0.04;0.018;0.01	T	0.50013	-0.8877	10	0.49607	T	0.09	1.8116	3.8196	0.08830	0.0:0.297:0.1964:0.5066	.	90;36;36	B4DNQ5;B5MC14;P05231	.;.;IL6_HUMAN	F	36;36;36;90;13;36	ENSP00000385675:S36F;ENSP00000405150:S36F;ENSP00000258743:S36F;ENSP00000405994:S90F;ENSP00000384928:S13F;ENSP00000385227:S36F	ENSP00000258743:S36F	S	+	2	0	IL6	22733675	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.292000	0.08332	0.162000	0.19483	0.455000	0.32223	TCC		0.587	IL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250225.2	NM_000600		32	77	0	0	0	1	0	32	77					T	22767150	C	T	22767150	3	4	305	1	0	0	0	0	1	0	0	0	7701	855	30	3	113	3	IL6	7	22767150	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	5853745	22767150	136371513	419	14936											
EVX1	2128	broad.mit.edu	37	chr7	27285737	27285737	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cttcagcggctcgctgcgccCgctcgacacgttccgcgtgc	3	8	12	18	8	1	0	1	0	0	0	4	1	2	0	2	1	3	4	2	1	0	2			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr7:27285737C>T	ENST00000496902.4	+	3	1403	c.917C>T	c.(916-918)cCg>cTg	p.P306L	EVX1-AS_ENST00000517726.1_RNA|EVX1-AS_ENST00000519218.1_RNA|EVX1_ENST00000535619.1_Missense_Mutation_p.P124L|EVX1_ENST00000222761.3_3'UTR			P49640	EVX1_HUMAN	even-skipped homeobox 1	306					embryo development ending in birth or egg hatching (GO:0009792)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter involved in ventral spinal cord interneuron specification (GO:0021913)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			kidney(1)|liver(1)|lung(10)|prostate(1)|skin(1)	14						TCGCTGCGCCCGCTCGACACG	0.761																																						ENST00000496902.4																			0				kidney(1)|liver(1)|lung(10)|prostate(1)|skin(1)	14						c.(916-918)cCg>cTg		even-skipped homeobox 1							3	4	4					7																	27285737		1640	3388	5028	SO:0001583	missense	2128					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:27285737C>T		CCDS5413.1	7p15.2	2012-03-09	2007-02-15		ENSG00000106038	ENSG00000106038		"Homeoboxes / ANTP class : HOXL subclass"	3506	protein-coding gene	gene with protein product		142996	"eve, even-skipped homeobox homolog 1 (Drosophila)"			1684419	Standard	XM_005249640		Approved		uc003szd.1	P49640	OTTHUMG00000023093	ENST00000496902.4:c.917C>T	7.37:g.27285737C>T	ENSP00000419266:p.Pro306Leu					EVX1_ENST00000535619.1_Missense_Mutation_p.P124L|EVX1_ENST00000222761.3_3'UTR|EVX1-AS_ENST00000517726.1_RNA	p.P306L			P49640	EVX1_HUMAN			3	1403	+			306					A4D199|B4DQJ0	Missense_Mutation	SNP	ENST00000496902.4	37	c.917C>T	CCDS5413.1	.	.	.	.	.	.	.	.	.	.	C	29.3	4.993833	0.93167	.	.	ENSG00000106038	ENST00000496902;ENST00000535619	D;D	0.93811	-3.27;-3.29	4.85	4.85	0.62838	.	0.102709	0.64402	D	0.000001	D	0.95746	0.8616	M	0.69823	2.125	0.58432	D	0.999999	D	0.69078	0.997	P	0.59703	0.862	D	0.96370	0.9273	10	0.87932	D	0	-18.5975	17.9649	0.89097	0.0:1.0:0.0:0.0	.	306	P49640	EVX1_HUMAN	L	306;124	ENSP00000419266:P306L;ENSP00000446458:P124L	ENSP00000419266:P306L	P	+	2	0	EVX1	27252262	1.000000	0.71417	1.000000	0.80357	0.696000	0.40369	7.299000	0.78831	2.223000	0.72356	0.462000	0.41574	CCG		0.761	EVX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358750.3			5	16	0	0	0	1	0	5	16					T	27285737	C	T	27285737	3	4	305	1	0	0	0	0	1	0	0	0	5294	652	23	2	927	2	EVX1	7	27285737	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	4518587	27285737	131852926	420	14937											
PLEKHA8	84725	broad.mit.edu	37	chr7	30094419	30094419	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcagactcaagttgctctccGgaatgcctctgggaggaagg	9	9	13	10	1	4	1	2	0	2	1	5	4	4	4	2	4	2	2	2	4	3	1			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr7:30094419G>A	ENST00000449726.1	+	8	1241	c.891G>A	c.(889-891)ccG>ccA	p.P297P	PLEKHA8_ENST00000396257.2_Silent_p.P297P|PLEKHA8_ENST00000396259.1_Silent_p.P297P|PLEKHA8_ENST00000258679.7_Silent_p.P297P	NM_001197027.1	NP_001183956.1	Q96JA3	PKHA8_HUMAN	pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 8	297					ER to Golgi ceramide transport (GO:0035621)|lipid transport (GO:0006869)|protein transport (GO:0015031)	membrane (GO:0016020)|trans-Golgi network (GO:0005802)	ceramide binding (GO:0097001)|glycolipid binding (GO:0051861)|glycolipid transporter activity (GO:0017089)|phosphatidylinositol-4-phosphate binding (GO:0070273)			breast(4)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)	17						GTTGCTCTCCGGAATGCCTCT	0.408																																						ENST00000449726.1																			0				breast(4)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)	17						c.(889-891)ccG>ccA		pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 8							158	151	153					7																	30094419		2203	4300	6503	SO:0001819	synonymous_variant	84725				protein transport	cytoplasm	glycolipid binding|glycolipid transporter activity	g.chr7:30094419G>A	BC053990	CCDS5424.1, CCDS56473.1, CCDS75574.1	7p21-p11.2	2013-01-10			ENSG00000106086	ENSG00000106086		"Pleckstrin homology (PH) domain containing"	30037	protein-coding gene	gene with protein product		608639				11001876	Standard	NM_001197027		Approved	FAPP2, MGC3358	uc003taq.3	Q96JA3	OTTHUMG00000097751	ENST00000449726.1:c.891G>A	7.37:g.30094419G>A						PLEKHA8_ENST00000396259.1_Silent_p.P297P|PLEKHA8_ENST00000258679.7_Silent_p.P297P|PLEKHA8_ENST00000396257.2_Silent_p.P297P	p.P297P	NM_001197027.1	NP_001183956.1	Q96JA3	PKHA8_HUMAN			8	1241	+			297					B4DH00|Q7Z5V8|Q9BU78|Q9H274|Q9H8Z7	Silent	SNP	ENST00000449726.1	37	c.891G>A	CCDS56473.1																																																																																				0.408	PLEKHA8-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_032639		23	86	0	0	0	1	0	23	86					A	30094419	G	A	30094419	2	1	305	1	0	0	0	0	0	0	0	1	12062	1103	39	2		2	PLEKHA8	7	30094419	Silent	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	2808682	30094419	129044244	421	14938											
NOD1	10392	broad.mit.edu	37	chr7	30491788	30491788	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtcagggtcatcgtgcagtcGggcagctgtggtgagccttc	5	10	16	10	2	2	1	2	1	0	0	5	1	2	1	1	3	3	3	1	3	0	1			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr7:30491788G>A	ENST00000222823.4	-	6	1770	c.1245C>T	c.(1243-1245)ccC>ccT	p.P415P	NOD1_ENST00000423334.2_3'UTR	NM_006092.2	NP_006083.1	Q9Y239	NOD1_HUMAN	nucleotide-binding oligomerization domain containing 1	415	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of MAPK activity (GO:0000187)|apoptotic process (GO:0006915)|defense response (GO:0006952)|defense response to bacterium (GO:0042742)|defense response to Gram-positive bacterium (GO:0050830)|detection of bacterium (GO:0016045)|detection of biotic stimulus (GO:0009595)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-8 biosynthetic process (GO:0042228)|intracellular signal transduction (GO:0035556)|JNK cascade (GO:0007254)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of dendritic cell antigen processing and presentation (GO:0002606)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of JNK cascade (GO:0046330)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of tumor necrosis factor production (GO:0032760)|protein oligomerization (GO:0051259)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|CARD domain binding (GO:0050700)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|identical protein binding (GO:0042802)|peptidoglycan binding (GO:0042834)|protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(2)|prostate(1)|skin(2)	39						TCGTGCAGTCGGGCAGCTGTG	0.602																																						ENST00000222823.4																			0				breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(2)|prostate(1)|skin(2)	39						c.(1243-1245)ccC>ccT		nucleotide-binding oligomerization domain containing 1							79	75	76					7																	30491788		2203	4300	6503	SO:0001819	synonymous_variant	10392				activation of MAPK activity|detection of bacterium|induction of apoptosis|inflammatory response|innate immune response|interleukin-8 biosynthetic process|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of dendritic cell antigen processing and presentation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protein oligomerization|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	basolateral plasma membrane|cytosol	ATP binding|CARD domain binding|caspase activator activity|peptidoglycan binding|protein homodimerization activity	g.chr7:30491788G>A	AF126484	CCDS5427.1	7p15-p14	2006-12-08	2006-12-08	2006-12-08	ENSG00000106100	ENSG00000106100		"Nucleotide-binding domain and leucine rich repeat containing"	16390	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 1", "NLR family, CARD domain containing 1"	605980	"caspase recruitment domain family, member 4"	CARD4		10224040, 10329646	Standard	NM_006092		Approved	NLRC1, CLR7.1	uc003tav.3	Q9Y239	OTTHUMG00000023923	ENST00000222823.4:c.1245C>T	7.37:g.30491788G>A						NOD1_ENST00000423334.2_3'UTR	p.P415P	NM_006092.2	NP_006083.1	Q9Y239	NOD1_HUMAN			6	1770	-			415			NACHT.		B4DTU3|Q549U4|Q8IWF5	Silent	SNP	ENST00000222823.4	37	c.1245C>T	CCDS5427.1																																																																																				0.602	NOD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250443.2			8	110	0	0	0	1	0	8	110					A	30491788	G	A	30491788	2	1	305	1	0	0	0	0	0	0	0	1	10516	1103	39	2		2	NOD1	7	30491788	Silent	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	397369	30491788	128646875	422	14939											
CCDC129	223075	broad.mit.edu	37	chr7	31683138	31683138	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atgtcctccagcctggtgtcGgctgctcagagggctgtggc	4	10	15	12	1	1	1	1	0	0	1	4	1	3	1	3	4	2	3	3	4	0	0	rs185363516	byFrequency	TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr7:31683138G>A	ENST00000407970.3	+	11	2192	c.2154G>A	c.(2152-2154)tcG>tcA	p.S718S	CCDC129_ENST00000451887.2_Silent_p.S744S|CCDC129_ENST00000319386.3_Silent_p.S570S|CCDC129_ENST00000409210.1_Silent_p.S626S	NM_001257967.1|NM_194300.3	NP_001244896.1|NP_919276.2	Q6ZRS4	CC129_HUMAN	coiled-coil domain containing 129	718										cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31)	44						GCCTGGTGTCGGCTGCTCAGA	0.527													G|||	9	0.00179712	0	0	5008	,	,		20280	0.0079		0.001	False		,,,				2504	0					ENST00000319386.3																			0				cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31)	44						c.(1708-1710)tcG>tcA		coiled-coil domain containing 129							71	75	74					7																	31683138		2203	4300	6503	SO:0001819	synonymous_variant	223075							g.chr7:31683138G>A	AK128026	CCDS5435.2, CCDS59050.1, CCDS75577.1	7p14.3	2006-08-21			ENSG00000180347	ENSG00000180347			27363	protein-coding gene	gene with protein product						14702039	Standard	NM_001257967		Approved	FLJ38344	uc011kad.1	Q6ZRS4	OTTHUMG00000128611	ENST00000407970.3:c.2154G>A	7.37:g.31683138G>A						CCDC129_ENST00000409210.1_Silent_p.S626S|CCDC129_ENST00000451887.2_Silent_p.S744S|CCDC129_ENST00000407970.3_Silent_p.S718S	p.S570S			Q6ZRS4	CC129_HUMAN			11	2703	+			718					A2RU17|B3KTI9|B4DHB0|B4E2R1|F5H3V5	Silent	SNP	ENST00000407970.3	37	c.1710G>A	CCDS5435.2																																																																																				0.527	CCDC129-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318975.1	NM_194300		25	64	0	0	0	1	0	25	64					A	31683138	G	A	31683138	2	1	305	1	0	0	0	0	0	0	0	1	2764	1103	39	2		2	CCDC129	7	31683138	Silent	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	1191350	31683138	127455525	423	14940											
VPS41	27072	broad.mit.edu	37	chr7	38829422	38829422	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tatttcaacatatcgacttgGcaaatccctcatttcactgg	11	14	5	11	1	3	0	3	0	0	0	5	1	4	0	1	2	1	1	1	2	4	5			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr7:38829422G>A	ENST00000310301.4	-	10	817	c.763C>T	c.(763-765)Cca>Tca	p.P255S	VPS41_ENST00000466017.1_5'UTR|VPS41_ENST00000395969.2_Missense_Mutation_p.P230S	NM_014396.3	NP_055211.2	P49754	VPS41_HUMAN	vacuolar protein sorting 41 homolog (S. cerevisiae)	255					Golgi vesicle transport (GO:0048193)|intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	cytosol (GO:0005829)|early endosome (GO:0005769)|Golgi-associated vesicle (GO:0005798)|HOPS complex (GO:0030897)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)	zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(5)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	44						TATCGACTTGGCAAATCCCTC	0.393																																						ENST00000310301.4																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(5)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	44						c.(763-765)Cca>Tca		vacuolar protein sorting 41 homolog (S. cerevisiae)							159	141	147					7																	38829422		2203	4300	6503	SO:0001583	missense	27072				Golgi vesicle transport|intracellular protein transport|vesicle-mediated transport	cytosol|Golgi-associated vesicle|HOPS complex|membrane fraction	zinc ion binding	g.chr7:38829422G>A	U87309	CCDS5457.1, CCDS5458.2	7p14.1-p13	2009-05-08	2006-12-19		ENSG00000006715	ENSG00000006715			12713	protein-coding gene	gene with protein product		605485	"vacuolar protein sorting 41 (yeast homolog)", "vacuolar protein sorting 41 (yeast)"			9159129	Standard	NM_080631		Approved	HVSP41	uc003tgy.3	P49754	OTTHUMG00000023629	ENST00000310301.4:c.763C>T	7.37:g.38829422G>A	ENSP00000309457:p.Pro255Ser					VPS41_ENST00000395969.2_Missense_Mutation_p.P230S|VPS41_ENST00000466017.1_5'UTR	p.P255S	NM_014396.3	NP_055211.2	P49754	VPS41_HUMAN			10	817	-			255					E9PF36|Q86TP8|Q99851|Q99852	Missense_Mutation	SNP	ENST00000310301.4	37	c.763C>T	CCDS5457.1	.	.	.	.	.	.	.	.	.	.	G	24.8	4.569813	0.86439	.	.	ENSG00000006715	ENST00000310301;ENST00000395969	T;T	0.60424	0.19;0.19	6.03	6.03	0.97812	.	0.000000	0.85682	D	0.000000	T	0.74981	0.3788	L	0.58669	1.825	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.997;0.997;0.997	T	0.72037	-0.4411	10	0.48119	T	0.1	-10.5186	20.5752	0.99366	0.0:0.0:1.0:0.0	.	255;230;255	B2RB94;E9PF36;P49754	.;.;VPS41_HUMAN	S	255;230	ENSP00000309457:P255S;ENSP00000379297:P230S	ENSP00000309457:P255S	P	-	1	0	VPS41	38795947	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.623000	0.98386	2.868000	0.98415	0.557000	0.71058	CCA		0.393	VPS41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226986.3			29	72	0	0	0	1	0	29	72					A	38829422	G	A	38829422	3	1	305	1	0	0	0	0	1	0	0	0	17207	1203	42	3	1881	3	VPS41	7	38829422	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	7146284	38829422	120309241	424	14941											
URGCP	55665	broad.mit.edu	37	chr7	43916458	43916458	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atgtgctgcttctcagggtcGcagaaggccaggcctgccag	7	8	14	12	1	1	1	1	0	1	1	3	1	1	1	3	3	3	3	3	3	1	1	rs573563593		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr7:43916458G>A	ENST00000453200.1	-	6	3097	c.2604C>T	c.(2602-2604)tgC>tgT	p.C868C	URGCP-MRPS24_ENST00000603700.1_Intron|URGCP_ENST00000223341.7_Silent_p.C825C|URGCP_ENST00000336086.6_Silent_p.C825C|URGCP_ENST00000402306.3_Silent_p.C859C|URGCP_ENST00000443736.1_Silent_p.C825C|URGCP_ENST00000497914.1_5'UTR|URGCP_ENST00000447717.3_Silent_p.C825C			Q8TCY9	URGCP_HUMAN	upregulator of cell proliferation	868	VLIG-type G.				cell cycle (GO:0007049)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	GTP binding (GO:0005525)			breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|liver(1)|lung(13)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						TCTCAGGGTCGCAGAAGGCCA	0.617													G|||	1	0.000199681	0	0	5008	,	,		17282	0.001		0	False		,,,				2504	0					ENST00000336086.6																			0				breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|liver(1)|lung(13)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						c.(2473-2475)tgC>tgT		upregulator of cell proliferation							37	39	38					7																	43916458		2007	4181	6188	SO:0001819	synonymous_variant	55665				cell cycle	centrosome|nucleus	GTP binding	g.chr7:43916458G>A		CCDS43572.1, CCDS47577.1, CCDS47578.1	7p13	2010-02-17			ENSG00000106608	ENSG00000106608			30890	protein-coding gene	gene with protein product	"up-regulated gene 4"	610337				10819331, 12082552	Standard	NM_017920		Approved	URG4, KIAA1507, FLJ20654, DKFZp666G166, DKFZp686O0457	uc003tiw.3	Q8TCY9	OTTHUMG00000155245	ENST00000453200.1:c.2604C>T	7.37:g.43916458G>A						URGCP_ENST00000443736.1_Silent_p.C825C|URGCP_ENST00000402306.3_Silent_p.C859C|URGCP_ENST00000447717.3_Silent_p.C825C|URGCP_ENST00000223341.7_Silent_p.C825C|URGCP_ENST00000453200.1_Silent_p.C868C|URGCP_ENST00000497914.1_5'UTR|RP5-1165K10.1_ENST00000603700.1_Intron	p.C825C			Q8TCY9	URGCP_HUMAN			4	4711	-			868					E9PFF6|Q658M4|Q68DH6|Q6MZZ5|Q8WV98|Q9NWR7|Q9P221	Silent	SNP	ENST00000453200.1	37	c.2475C>T	CCDS47578.1																																																																																				0.617	URGCP-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000338995.1	NM_001077664		23	36	0	0	0	1	0	23	36					A	43916458	G	A	43916458	2	1	305	1	0	0	0	0	0	0	0	1	17023	1079	38	1		1	URGCP	7	43916458	Silent	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	5087036	43916458	115222205	425	14942											
URGCP	55665	broad.mit.edu	37	chr7	43917567	43917567	+	Frame_Shift_Del	DEL	C	C	-																															ggctgcctttctccaggggtCcccctgcagcctcagctcgt																										TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr7:43917567delC	ENST00000453200.1	-	6	1988	c.1495delG	c.(1495-1497)gacfs	p.D499fs	URGCP-MRPS24_ENST00000603700.1_Intron|URGCP_ENST00000223341.7_Frame_Shift_Del_p.D456fs|URGCP_ENST00000336086.6_Frame_Shift_Del_p.D456fs|URGCP_ENST00000402306.3_Frame_Shift_Del_p.D490fs|URGCP_ENST00000443736.1_Frame_Shift_Del_p.D456fs|URGCP_ENST00000497914.1_5'UTR|URGCP_ENST00000447717.3_Frame_Shift_Del_p.D456fs			Q8TCY9	URGCP_HUMAN	upregulator of cell proliferation	499					cell cycle (GO:0007049)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	GTP binding (GO:0005525)			breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|liver(1)|lung(13)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						CTCCAGGGGTCCCCCTGCAGC	0.602																																						ENST00000336086.6																			0				breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|liver(1)|lung(13)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						c.(1366-1368)acfs		upregulator of cell proliferation							90	96	94					7																	43917567		1988	4151	6139	SO:0001589	frameshift_variant	55665				cell cycle	centrosome|nucleus	GTP binding	g.chr7:43917567delC		CCDS43572.1, CCDS47577.1, CCDS47578.1	7p13	2010-02-17			ENSG00000106608	ENSG00000106608			30890	protein-coding gene	gene with protein product	"up-regulated gene 4"	610337				10819331, 12082552	Standard	NM_017920		Approved	URG4, KIAA1507, FLJ20654, DKFZp666G166, DKFZp686O0457	uc003tiw.3	Q8TCY9	OTTHUMG00000155245	ENST00000453200.1:c.1495delG	7.37:g.43917567delC	ENSP00000396918:p.Asp499fs					URGCP_ENST00000453200.1_Frame_Shift_Del_p.D499fs|URGCP_ENST00000443736.1_Frame_Shift_Del_p.D456fs|URGCP_ENST00000497914.1_5'UTR|URGCP_ENST00000402306.3_Frame_Shift_Del_p.D490fs|RP5-1165K10.1_ENST00000603700.1_Intron|URGCP_ENST00000223341.7_Frame_Shift_Del_p.D456fs|URGCP_ENST00000447717.3_Frame_Shift_Del_p.D456fs	p.D456fs			Q8TCY9	URGCP_HUMAN			4	3602	-			499					E9PFF6|Q658M4|Q68DH6|Q6MZZ5|Q8WV98|Q9NWR7|Q9P221	Frame_Shift_Del	DEL	ENST00000453200.1	37	c.1366delG	CCDS47578.1																																																																																				0.602	URGCP-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000338995.1	NM_001077664		42	111						42	111	---	---	---	---	-	43917567	C	-	43917567	7	5	305	1	0	1	0	1	0	0	0	0	17023	855	30	0	1304	0	URGCP	7	43917567	Frame_Shift_Del	DEL	C	TCGA-KK-A59V-01A-11D-A29Q-08	1109	43917567	115221096	426	14943											
POLM	27434	broad.mit.edu	37	chr7	44120414	44120414	+	Frame_Shift_Del	DEL	G	G	-																															agcttatgtccagcagagctGggggggtgcaacccggggga																										TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr7:44120414delG	ENST00000242248.5	-	2	391	c.290delC	c.(289-291)ccafs	p.P97fs	POLM_ENST00000335195.6_Frame_Shift_Del_p.P97fs|POLM_ENST00000395831.3_Frame_Shift_Del_p.P97fs	NM_013284.2	NP_037416.1	Q9NP87	DPOLM_HUMAN	polymerase (DNA directed), mu	97	BRCT. {ECO:0000255|PROSITE- ProRule:PRU00033}.				DNA recombination (GO:0006310)|DNA repair (GO:0006281)	nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(6)|ovary(3)|skin(2)	22						CAGCAGAGCTGGGGGGGTGCA	0.637								DNA polymerases (catalytic subunits)																														ENST00000242248.5																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(6)|ovary(3)|skin(2)	22						c.(289-291)cafs	DNA polymerases (catalytic subunits)	polymerase (DNA directed), mu							49	57	54					7																	44120414		2203	4300	6503	SO:0001589	frameshift_variant	27434				DNA recombination|DNA repair	nucleus	DNA binding|DNA nucleotidylexotransferase activity|DNA-directed DNA polymerase activity|metal ion binding	g.chr7:44120414delG	AF176097	CCDS34625.1, CCDS64635.1, CCDS64636.1	7p13	2012-05-18			ENSG00000122678	ENSG00000122678		"DNA polymerases"	9185	protein-coding gene	gene with protein product	"Pol iota"	606344				10982892	Standard	XM_005249708		Approved	Tdt-N	uc003tjt.3	Q9NP87	OTTHUMG00000155353	ENST00000242248.5:c.290delC	7.37:g.44120414delG	ENSP00000242248:p.Pro97fs					POLM_ENST00000395831.3_Frame_Shift_Del_p.P97fs|POLM_ENST00000335195.6_Frame_Shift_Del_p.P97fs	p.P97fs	NM_013284.2	NP_037416.1	Q9NP87	DPOLM_HUMAN			2	391	-			97			BRCT.		D3DVK4|Q6P5X8|Q86WQ9	Frame_Shift_Del	DEL	ENST00000242248.5	37	c.290delC	CCDS34625.1																																																																																				0.637	POLM-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339594.1	NM_013284		12	151						12	151	---	---	---	---	-	44120414	G	-	44120414	7	5	305	1	0	1	0	1	0	0	0	0	12206	1348	47	0	1234	0	POLM	7	44120414	Frame_Shift_Del	DEL	G	TCGA-KK-A59V-01A-11D-A29Q-08	202847	44120414	115018249	427	14944											
NUDCD3	23386	broad.mit.edu	37	chr7	44431997	44431997	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atccacggtggccatggagcGctccttgttgatcttgtcaa	7	12	11	11	2	2	1	1	1	1	0	4	2	4	2	3	3	1	2	3	3	1	3			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr7:44431997G>A	ENST00000355451.7	-	5	1153	c.874C>T	c.(874-876)Cgc>Tgc	p.R292C	NUDCD3_ENST00000460110.1_5'UTR	NM_015332.3	NP_056147.2	Q8IVD9	NUDC3_HUMAN	NudC domain containing 3	292										endometrium(2)|large_intestine(1)|lung(3)|skin(1)	7						GCCATGGAGCGCTCCTTGTTG	0.572																																						ENST00000355451.6																			0				endometrium(2)|large_intestine(1)|lung(3)|skin(1)	7						c.(874-876)Cgc>Tgc		NudC domain containing 3							280	241	255					7																	44431997		2203	4300	6503	SO:0001583	missense	23386							g.chr7:44431997G>A	BC003691	CCDS5490.2	7p13-p12	2005-03-18			ENSG00000015676	ENSG00000015676			22208	protein-coding gene	gene with protein product		610296					Standard	NM_015332		Approved	KIAA1068	uc003tkz.3	Q8IVD9	OTTHUMG00000129174	ENST00000355451.7:c.874C>T	7.37:g.44431997G>A	ENSP00000347626:p.Arg292Cys					NUDCD3_ENST00000460110.1_5'UTR	p.R292C	NM_015332.3	NP_056147.2	Q8IVD9	NUDC3_HUMAN			5	1153	-			292					Q9BTI3|Q9H7W9|Q9UPT4	Missense_Mutation	SNP	ENST00000355451.7	37	c.874C>T	CCDS5490.2	.	.	.	.	.	.	.	.	.	.	G	33	5.196914	0.94960	.	.	ENSG00000015676	ENST00000355451;ENST00000338427	T	0.57752	0.38	4.91	4.91	0.64330	HSP20-like chaperone (1);	0.000000	0.85682	D	0.000000	T	0.73148	0.3550	M	0.76170	2.325	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	T	0.76383	-0.2979	10	0.87932	D	0	-17.5888	18.233	0.89939	0.0:0.0:1.0:0.0	.	292	Q8IVD9	NUDC3_HUMAN	C	292;48	ENSP00000347626:R292C	ENSP00000345922:R48C	R	-	1	0	NUDCD3	44398522	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.276000	0.95745	2.706000	0.92434	0.655000	0.94253	CGC		0.572	NUDCD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251248.3	NM_015332		47	119	0	0	0	1	0	47	119					A	44431997	G	A	44431997	3	1	305	1	0	0	0	0	1	0	0	0	10724	1087	38	1	219	1	NUDCD3	7	44431997	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	311583	44431997	114706666	428	14945											
IKZF1	10320	broad.mit.edu	37	chr7	50467961	50467961	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagctgccaagactccacggAcaccgagagcaacaacgagg	14	2	11	14	3	0	2	0	0	0	2	1	5	1	3	3	2	5	2	3	2	3	0			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr7:50467961A>G	ENST00000331340.3	+	8	1351	c.1196A>G	c.(1195-1197)gAc>gGc	p.D399G	IKZF1_ENST00000349824.4_Missense_Mutation_p.D256G|IKZF1_ENST00000440768.2_3'UTR|IKZF1_ENST00000438033.1_Missense_Mutation_p.D312G|IKZF1_ENST00000346667.4_Missense_Mutation_p.D169G|IKZF1_ENST00000343574.5_Missense_Mutation_p.D312G|IKZF1_ENST00000359197.5_Missense_Mutation_p.D357G|IKZF1_ENST00000357364.4_Missense_Mutation_p.D312G|IKZF1_ENST00000439701.1_Missense_Mutation_p.D357G	NM_001220769.1|NM_001220772.1|NM_001220773.1|NM_001220775.1|NM_006060.4	NP_001207698.1|NP_001207701.1|NP_001207702.1|NP_001207704.1|NP_006051.1	Q13422	IKZF1_HUMAN	IKAROS family zinc finger 1 (Ikaros)	399					B cell differentiation (GO:0030183)|cell cycle (GO:0007049)|chromatin modification (GO:0016568)|forebrain development (GO:0030900)|lymph node development (GO:0048535)|mesoderm development (GO:0007498)|natural killer cell differentiation (GO:0001779)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Peyer's patch development (GO:0048541)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of neutrophil differentiation (GO:0045660)|positive regulation of NK T cell differentiation (GO:0051138)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|retina development in camera-type eye (GO:0060041)|T cell differentiation (GO:0030217)|thymus development (GO:0048538)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.?(28)		haematopoietic_and_lymphoid_tissue(275)|lung(1)	276	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;7.29e-10)|all_hematologic(4;4.8e-07)				GACTCCACGGACACCGAGAGC	0.657			"D,T"	BCL6	"ALL, DLBCL"																																	ENST00000331340.3				"Rec,Dom"	yes		7	7p12.2	10320	"D,T"	IKAROS family zinc finger 1			L	BCL6		"ALL, DLBCL"		28	Unknown(28)	p.?(28)	haematopoietic_and_lymphoid_tissue(28)	haematopoietic_and_lymphoid_tissue(275)|lung(1)	276						c.(1195-1197)gAc>gGc		IKAROS family zinc finger 1 (Ikaros)							27	34	32					7																	50467961		2173	4248	6421	SO:0001583	missense	10320				cell cycle|chromatin modification|mesoderm development	cytoplasm|nucleus	zinc ion binding	g.chr7:50467961A>G	U40462	CCDS59055.1, CCDS69299.1, CCDS75596.1, CCDS75597.1	7p12.2	2014-06-12	2006-08-25	2006-08-25	ENSG00000185811	ENSG00000185811		"Zinc fingers, C2H2-type", "IKAROS zinc fingers"	13176	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 92"	603023	"zinc finger protein, subfamily 1A, 1 (Ikaros)"	ZNFN1A1		1439790, 7935426	Standard	NM_006060		Approved	hIk-1, LyF-1, Hs.54452, IKAROS, PPP1R92	uc003tow.4	Q13422	OTTHUMG00000155907	ENST00000331340.3:c.1196A>G	7.37:g.50467961A>G	ENSP00000331614:p.Asp399Gly					IKZF1_ENST00000346667.4_Missense_Mutation_p.D169G|IKZF1_ENST00000357364.4_Missense_Mutation_p.D312G|IKZF1_ENST00000359197.5_Missense_Mutation_p.D357G|IKZF1_ENST00000440768.2_3'UTR|IKZF1_ENST00000349824.4_Missense_Mutation_p.D256G|IKZF1_ENST00000438033.1_Missense_Mutation_p.D312G|IKZF1_ENST00000343574.5_Missense_Mutation_p.D312G|IKZF1_ENST00000439701.1_Missense_Mutation_p.D357G	p.D399G	NM_001220769.1|NM_001220772.1|NM_001220773.1|NM_001220775.1|NM_006060.4	NP_001207698.1|NP_001207701.1|NP_001207702.1|NP_001207704.1|NP_006051.1	Q13422	IKZF1_HUMAN			8	1351	+	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;7.29e-10)|all_hematologic(4;4.8e-07)	399					A4D260|B4E0Z1|D3DVM5|O00598|Q53XL2|Q69BM4|Q8WVA3	Missense_Mutation	SNP	ENST00000331340.3	37	c.1196A>G		.	.	.	.	.	.	.	.	.	.	A	29.0	4.972376	0.92919	.	.	ENSG00000185811	ENST00000346667;ENST00000343574;ENST00000359197;ENST00000349824;ENST00000357364;ENST00000331340;ENST00000438033;ENST00000439701	T;T;T;T;T;T;T;T	0.13196	4.05;2.67;2.61;3.81;2.95;2.73;2.67;2.61	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	T	0.40297	0.1111	.	.	.	0.80722	D	1	D;D;D;D;D	0.89917	0.998;1.0;1.0;1.0;0.997	D;D;D;D;D	0.91635	0.998;0.998;0.999;0.999;0.996	T	0.31280	-0.9949	9	0.72032	D	0.01	-22.243	15.8615	0.79026	1.0:0.0:0.0:0.0	.	312;169;312;357;399	Q13422-2;Q13422-6;Q13422-3;Q13422-7;Q13422	.;.;.;.;IKZF1_HUMAN	G	169;312;357;256;312;399;312;357	ENSP00000340080:D169G;ENSP00000342750:D312G;ENSP00000352123:D357G;ENSP00000342485:D256G;ENSP00000349928:D312G;ENSP00000331614:D399G;ENSP00000396554:D312G;ENSP00000413025:D357G	ENSP00000331614:D399G	D	+	2	0	IKZF1	50435455	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	9.264000	0.95635	2.147000	0.66899	0.477000	0.44152	GAC		0.657	IKZF1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000342242.1	NM_006060		9	23	0	0	0	1	0	9	23					G	50467961	A	G	50467961	3	3	305	1	0	0	0	0	1	0	0	0	7614	275	10	4	1222	4	IKZF1	7	50467961	Missense_Mutation	SNP	A	TCGA-KK-A59V-01A-11D-A29Q-08	6035964	50467961	108670702	429	14946											
POM121L12	285877	broad.mit.edu	37	chr7	53104142	53104142	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttccgtgctggtccagcccGccccatccgccatctgggac	4	8	10	19	3	1	0	0	0	1	0	4	1	4	1	7	2	2	1	7	2	0	1	rs202031574	byFrequency	TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr7:53104142G>A	ENST00000408890.4	+	1	794	c.778G>A	c.(778-780)Gcc>Acc	p.A260T		NM_182595.3	NP_872401.3	Q8N7R1	P1L12_HUMAN	POM121 transmembrane nucleoporin-like 12	260										endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						GGTCCAGCCCGCCCCATCCGC	0.657																																						ENST00000408890.4																			0				endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						c.(778-780)Gcc>Acc		POM121 transmembrane nucleoporin-like 12							50	57	54					7																	53104142		2017	4174	6191	SO:0001583	missense	285877							g.chr7:53104142G>A		CCDS43584.1	7p12.1	2012-03-13	2012-03-13		ENSG00000221900	ENSG00000221900			25369	protein-coding gene	gene with protein product			"POM121 membrane glycoprotein-like 12"				Standard	NM_182595		Approved	DKFZp564N2472	uc003tpz.3	Q8N7R1	OTTHUMG00000155995	ENST00000408890.4:c.778G>A	7.37:g.53104142G>A	ENSP00000386133:p.Ala260Thr						p.A260T	NM_182595.3	NP_872401.3	Q8N7R1	P1L12_HUMAN			1	794	+			260					Q8NDI9	Missense_Mutation	SNP	ENST00000408890.4	37	c.778G>A	CCDS43584.1	.	.	.	.	.	.	.	.	.	.	G	7.673	0.687324	0.14973	.	.	ENSG00000221900	ENST00000408890	T	0.25912	1.77	2.16	-4.31	0.03698	.	.	.	.	.	T	0.09335	0.0230	N	0.08118	0	0.09310	N	1	B	0.28419	0.211	B	0.19391	0.025	T	0.12889	-1.0530	9	0.56958	D	0.05	.	2.3928	0.04382	0.1725:0.1362:0.5107:0.1807	.	260	Q8N7R1	P1L12_HUMAN	T	260	ENSP00000386133:A260T	ENSP00000386133:A260T	A	+	1	0	POM121L12	53071636	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-3.248000	0.00541	-2.674000	0.00412	-0.410000	0.06199	GCC		0.657	POM121L12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342656.1	NM_182595		8	110	0	0	0	1	0	8	110					A	53104142	G	A	53104142	3	1	305	1	0	0	0	0	1	0	0	0	12241	1087	38	1	780	1	POM121L12	7	53104142	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	2636181	53104142	106034521	430	14947											
CLIP2	7461	broad.mit.edu	37	chr7	73731913	73731913	+	Frame_Shift_Del	DEL	G	G	-																															gcctgaagccccccggccgtGgggggaagcactccagcccc																								rs200539524		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr7:73731913delG	ENST00000395060.1	+	1	37	c.37delG	c.(37-39)gggfs	p.G14fs	CLIP2_ENST00000361545.5_Frame_Shift_Del_p.G14fs|CLIP2_ENST00000223398.6_Frame_Shift_Del_p.G14fs			Q9UDT6	CLIP2_HUMAN	CAP-GLY domain containing linker protein 2	14						cytoplasmic microtubule (GO:0005881)|microtubule associated complex (GO:0005875)|microtubule plus-end (GO:0035371)				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|pancreas(1)|prostate(2)|skin(3)	30						CCCCGGCCGTGGGGGGAAGCA	0.657																																						ENST00000223398.6																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|pancreas(1)|prostate(2)|skin(3)	30						c.(37-39)ggfs		CAP-GLY domain containing linker protein 2							48	54	52					7																	73731913		2203	4300	6503	SO:0001589	frameshift_variant	7461					microtubule associated complex		g.chr7:73731913delG	AB006629	CCDS5569.1, CCDS5570.1	7q11.23	2008-06-12	2007-01-04	2007-01-04	ENSG00000106665	ENSG00000106665			2586	protein-coding gene	gene with protein product		603432	"cytoplasmic linker 2", "Williams-Beuren syndrome chromosome region 3"	WBSCR4, CYLN2, WBSCR3		8812460, 9799601	Standard	NM_003388		Approved	CLIP-115, KIAA0291, WSCR4, CLIP, WSCR3	uc003uam.3	Q9UDT6	OTTHUMG00000022980	ENST00000395060.1:c.37delG	7.37:g.73731913delG	ENSP00000378500:p.Gly14fs					CLIP2_ENST00000395060.1_Frame_Shift_Del_p.G14fs|CLIP2_ENST00000361545.5_Frame_Shift_Del_p.G14fs	p.G14fs	NM_003388.4	NP_003379.3	Q9UDT6	CLIP2_HUMAN			2	364	+			14					O14527|O43611	Frame_Shift_Del	DEL	ENST00000395060.1	37	c.37delG	CCDS5569.1																																																																																				0.657	CLIP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252556.1	NM_003388		9	187						9	187	---	---	---	---	-	73731913	G	-	73731913	7	5	305	1	0	1	0	1	0	0	0	0	3533	1348	47	0	39	0	CLIP2	7	73731913	Frame_Shift_Del	DEL	G	TCGA-KK-A59V-01A-11D-A29Q-08	20627771	73731913	85406750	431	14948											
NCF1	653361	broad.mit.edu	37	chr7	74202414	74202414	+	Frame_Shift_Del	DEL	G	G	-																															ggcccaacgccagatcaagcGgggggcgccgccccgcaggt																										TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr7:74202414delG	ENST00000289473.4	+	9	957	c.887delG	c.(886-888)cggfs	p.R296fs		NM_000265.4	NP_000256.4	P14598	NCF1_HUMAN	neutrophil cytosolic factor 1	296	Arg/Lys-rich (highly basic).				antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|cellular defense response (GO:0006968)|hydrogen peroxide biosynthetic process (GO:0050665)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interaction with host (GO:0051701)|leukotriene metabolic process (GO:0006691)|negative regulation of smooth muscle contraction (GO:0045986)|neutrophil mediated killing of fungus (GO:0070947)|neutrophil mediated killing of gram-positive bacterium (GO:0070946)|oxidation-reduction process (GO:0055114)|phagosome maturation (GO:0090382)|protein targeting to membrane (GO:0006612)|respiratory burst (GO:0045730)|respiratory burst involved in defense response (GO:0002679)|response to yeast (GO:0001878)|superoxide anion generation (GO:0042554)|superoxide metabolic process (GO:0006801)	cytosol (GO:0005829)|dendrite (GO:0030425)|extrinsic component of membrane (GO:0019898)|Golgi apparatus (GO:0005794)|NADPH oxidase complex (GO:0043020)|neuronal cell body (GO:0043025)|phagolysosome (GO:0032010)|rough endoplasmic reticulum (GO:0005791)	electron carrier activity (GO:0009055)|phosphatidylinositol binding (GO:0035091)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|SH3 domain binding (GO:0017124)|superoxide-generating NADPH oxidase activity (GO:0016175)			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|skin(3)	10					Dextromethorphan(DB00514)	CAGATCAAGCGGGGGGCGCCG	0.667																																						ENST00000289473.4																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|skin(3)	10						c.(886-888)cgfs		neutrophil cytosolic factor 1							1	1	1					7																	74202414		219	155	374	SO:0001589	frameshift_variant	653361				cell communication|cellular defense response|innate immune response|protein targeting to membrane|respiratory burst|superoxide anion generation	cytosol|NADPH oxidase complex|soluble fraction	electron carrier activity|GTP binding|GTPase activity|phosphatidylinositol binding|SH3 domain binding|superoxide-generating NADPH oxidase activity	g.chr7:74202414delG	M25665	CCDS34657.1	7q11.23	2014-09-17	2008-07-31		ENSG00000158517	ENSG00000158517			7660	protein-coding gene	gene with protein product	"NADPH oxidase organizer 2", "chronic granulomatous disease, autosomal 1"	608512	"neutrophil cytosolic factor 1 (47kD, chronic granulomatous disease, autosomal 1)"				Standard	NM_000265		Approved	p47phox, NOXO2, NCF1A, SH3PXD1A	uc022aft.1	P14598	OTTHUMG00000149965	ENST00000289473.4:c.887delG	7.37:g.74202414delG	ENSP00000289473:p.Arg296fs						p.R296fs	NM_000265.4	NP_000256.3	P14598	NCF1_HUMAN			9	957	+			296			Arg/Lys-rich (highly basic).		A6NEH2|A8K7S9|O43842|Q2PP07|Q53FR5|Q9BU90|Q9BXI7|Q9BXI8|Q9UDV9|Q9UMU2	Frame_Shift_Del	DEL	ENST00000289473.4	37	c.887delG	CCDS34657.1																																																																																				0.667	NCF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314560.1	NM_000265		3	5						3	5	---	---	---	---	-	74202414	G	-	74202414	7	5	305	1	0	1	0	1	0	0	0	0	10216	1116	39	0	921	0	NCF1	7	74202414	Frame_Shift_Del	DEL	G	TCGA-KK-A59V-01A-11D-A29Q-08	470501	74202414	84936249	432	14949											
DTX2	113878	broad.mit.edu	37	chr7	76111999	76112000	+	Frame_Shift_Ins	INS	-	-	G																															ctcgtggacttggcccccctINSggggtacaactacactgtca																										TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr7:76111999_76112000insG	ENST00000324432.5	+	5	953_954	c.443_444insG	c.(442-447)ctggggfs	p.LG148fs	DTX2_ENST00000430490.2_Frame_Shift_Ins_p.LG148fs|DTX2_ENST00000307569.8_Frame_Shift_Ins_p.LG148fs|DTX2_ENST00000413936.2_Frame_Shift_Ins_p.LG148fs|DTX2_ENST00000446820.2_Frame_Shift_Ins_p.LG148fs|DTX2_ENST00000446600.1_Frame_Shift_Ins_p.LG57fs	NM_020892.2	NP_065943.2	Q86UW9	DTX2_HUMAN	deltex 2, E3 ubiquitin ligase	148	WWE 2. {ECO:0000255|PROSITE- ProRule:PRU00248}.				Notch signaling pathway (GO:0007219)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(1)|skin(1)|stomach(2)	27						TTGGCCCCCCTGGGGTACAACT	0.629																																						ENST00000324432.5																			0				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(1)|skin(1)|stomach(2)	27						c.(442-444)cggfs		deltex homolog 2 (Drosophila)																																				SO:0001589	frameshift_variant	113878				Notch signaling pathway	cytoplasm|nucleus	protein binding|zinc ion binding	g.chr7:76111999_76112000insG		CCDS5587.1, CCDS43605.1	7q11.23	2014-01-28	2014-01-28		ENSG00000091073	ENSG00000091073		"RING-type (C3HC4) zinc fingers"	15973	protein-coding gene	gene with protein product		613141	"deltex (Drosophila) homolog 2", "deltex homolog 2 (Drosophila)"			12670957	Standard	NM_020892		Approved	RNF58, KIAA1528	uc003ufh.4	Q86UW9	OTTHUMG00000162594	ENST00000324432.5:c.447dupG	7.37:g.76112003_76112003dupG	ENSP00000322885:p.Leu148fs					DTX2_ENST00000307569.8_Frame_Shift_Ins_p.R148fs|DTX2_ENST00000430490.2_Frame_Shift_Ins_p.R148fs|DTX2_ENST00000446600.1_Frame_Shift_Ins_p.R57fs|DTX2_ENST00000446820.2_Frame_Shift_Ins_p.R148fs|DTX2_ENST00000413936.2_Frame_Shift_Ins_p.R148fs	p.R148fs	NM_020892.2	NP_065943.2	Q86UW9	DTX2_HUMAN			5	953_954	+			148			WWE 2.		Q6XM87|Q6XM88|Q96H69|Q9H890|Q9P200	Frame_Shift_Ins	INS	ENST00000324432.5	37	c.443_444insG	CCDS5587.1																																																																																				0.629	DTX2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253104.2			7	64						7	64	---	---	---	---	G	76112000	-	G	76111999	7	5	305	1	0	1	1	0	0	0	0	0	4794	1580	55	0	449	0	DTX2	7	76111999	Frame_Shift_Ins	INS	-	TCGA-KK-A59V-01A-11D-A29Q-08	1909585	76111999	83026664	433	14950											
PCLO	27445	broad.mit.edu	37	chr7	82580189	82580189	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaacctttgaatttcctgacGttcccactccaattcctcag	9	13	5	14	1	1	2	1	2	0	0	5	3	5	2	5	0	1	1	5	0	3	4	rs377059138		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr7:82580189G>A	ENST00000333891.9	-	6	10052	c.9715C>T	c.(9715-9717)Cgt>Tgt	p.R3239C	PCLO_ENST00000423517.2_Missense_Mutation_p.R3239C|PCLO_ENST00000437081.1_5'Flank	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein											breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						ATTTCCTGACGTTCCCACTCC	0.448																																						ENST00000423517.2																			0				breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						c.(9715-9717)Cgt>Tgt		piccolo presynaptic cytomatrix protein		G	CYS/ARG,CYS/ARG	1,3729		0,1,1864	78	75	76		9715,9715	5.4	1	7		76	0,8212		0,0,4106	no	missense,missense	PCLO	NM_014510.2,NM_033026.5	180,180	0,1,5970	AA,AG,GG		0.0,0.0268,0.0084	probably-damaging,probably-damaging	3239/4936,3239/5143	82580189	1,11941	1865	4106	5971	SO:0001583	missense	27445				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	g.chr7:82580189G>A	AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"aczonin"	604918	"piccolo (presynaptic cytomatrix protein)"			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.9715C>T	7.37:g.82580189G>A	ENSP00000334319:p.Arg3239Cys					PCLO_ENST00000333891.8_Missense_Mutation_p.R3239C	p.R3239C	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN			6	10052	-			3170			Gln-rich.			Missense_Mutation	SNP	ENST00000333891.9	37	c.9715C>T	CCDS47630.1	.	.	.	.	.	.	.	.	.	.	G	2.890	-0.229896	0.06022	2.68E-4	0.0	ENSG00000186472	ENST00000431819;ENST00000333891;ENST00000423517	T;T	0.60171	0.21;0.25	5.45	5.45	0.79879	.	.	.	.	.	T	0.77308	0.4111	M	0.76170	2.325	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.996;1.0;1.0	T	0.79626	-0.1725	9	0.87932	D	0	.	18.8749	0.92331	0.0:0.0:1.0:0.0	.	3170;3239;3239	Q9Y6V0;Q9Y6V0-5;Q9Y6V0-6	PCLO_HUMAN;.;.	C	3170;3239;3239	ENSP00000334319:R3239C;ENSP00000388393:R3239C	ENSP00000334319:R3239C	R	-	1	0	PCLO	82418125	1.000000	0.71417	0.992000	0.48379	0.350000	0.29205	4.323000	0.59221	2.565000	0.86533	0.462000	0.41574	CGT		0.448	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510		31	75	0	0	0	1	0	31	75					A	82580189	G	A	82580189	3	1	305	1	0	0	0	0	1	0	0	0	11583	1145	40	1	5810	1	PCLO	7	82580189	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	6468190	82580189	76558474	434	14951											
PCLO	27445	broad.mit.edu	37	chr7	82581482	82581482	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctccctgcggttaaatcaacGggtttttcatcttctattat	8	17	6	10	2	4	0	2	0	2	0	5	0	5	0	1	2	2	2	1	2	5	6			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr7:82581482G>A	ENST00000333891.9	-	5	9124	c.8787C>T	c.(8785-8787)ccC>ccT	p.P2929P	PCLO_ENST00000423517.2_Silent_p.P2929P|PCLO_ENST00000437081.1_5'Flank	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein											breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TTAAATCAACGGGTTTTTCAT	0.428																																						ENST00000423517.2																			0				breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						c.(8785-8787)ccC>ccT		piccolo presynaptic cytomatrix protein							121	121	121					7																	82581482		1903	4122	6025	SO:0001819	synonymous_variant	27445				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	g.chr7:82581482G>A	AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"aczonin"	604918	"piccolo (presynaptic cytomatrix protein)"			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.8787C>T	7.37:g.82581482G>A						PCLO_ENST00000333891.8_Silent_p.P2929P	p.P2929P	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN			5	9124	-			2860						Silent	SNP	ENST00000333891.9	37	c.8787C>T	CCDS47630.1																																																																																				0.428	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510		13	121	0	0	0	1	0	13	121					A	82581482	G	A	82581482	2	1	305	1	0	0	0	0	0	0	0	1	11583	1103	39	2		2	PCLO	7	82581482	Silent	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	1293	82581482	76557181	435	14952											
PCLO	27445	broad.mit.edu	37	chr7	82583452	82583452	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aggtactacagattctatgaTagaagatgccatatcagata	16	11	8	6	0	2	5	1	1	1	4	2	5	2	5	1	1	3	1	1	1	7	7			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr7:82583452T>C	ENST00000333891.9	-	5	7154	c.6817A>G	c.(6817-6819)Atc>Gtc	p.I2273V	PCLO_ENST00000423517.2_Missense_Mutation_p.I2273V	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein											breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						GATTCTATGATAGAAGATGCC	0.403																																						ENST00000423517.2																			0				breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						c.(6817-6819)Atc>Gtc		piccolo presynaptic cytomatrix protein							92	89	90					7																	82583452		1880	4116	5996	SO:0001583	missense	27445				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	g.chr7:82583452T>C	AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"aczonin"	604918	"piccolo (presynaptic cytomatrix protein)"			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.6817A>G	7.37:g.82583452T>C	ENSP00000334319:p.Ile2273Val					PCLO_ENST00000333891.8_Missense_Mutation_p.I2273V	p.I2273V	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN			5	7154	-			2204						Missense_Mutation	SNP	ENST00000333891.9	37	c.6817A>G	CCDS47630.1	.	.	.	.	.	.	.	.	.	.	T	4.449	0.083141	0.08533	.	.	ENSG00000186472	ENST00000431819;ENST00000333891;ENST00000423517	T;T	0.13657	2.58;2.57	5.55	-4.94	0.03057	.	.	.	.	.	T	0.03390	0.0098	N	0.00538	-1.39	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.45920	-0.9228	9	0.87932	D	0	.	8.3659	0.32387	0.0:0.4934:0.2378:0.2688	.	2273;2273	Q9Y6V0-5;Q9Y6V0-6	.;.	V	2204;2273;2273	ENSP00000334319:I2273V;ENSP00000388393:I2273V	ENSP00000334319:I2273V	I	-	1	0	PCLO	82421388	0.000000	0.05858	0.000000	0.03702	0.127000	0.20565	-1.131000	0.03238	-0.892000	0.03935	0.491000	0.48974	ATC		0.403	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510		7	116	0	0	0	1	0	7	116					C	82583452	T	C	82583452	3	2	305	1	0	0	0	0	1	0	0	0	11583	1406	49	4	8712	4	PCLO	7	82583452	Missense_Mutation	SNP	T	TCGA-KK-A59V-01A-11D-A29Q-08	1970	82583452	76555211	436	14953											
CROT	54677	broad.mit.edu	37	chr7	87006704	87006704	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttggagatccaacagtacgcTggggtgacaaatcctataac	13	9	10	9	1	0	2	0	1	0	1	2	3	2	2	2	3	3	2	2	3	5	4			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr7:87006704T>G	ENST00000331536.3	+	10	1101	c.916T>G	c.(916-918)Tgg>Ggg	p.W306G	CROT_ENST00000442291.1_Missense_Mutation_p.W306G|CROT_ENST00000419147.2_Missense_Mutation_p.W334G	NM_021151.3	NP_066974.2	Q9UKG9	OCTC_HUMAN	carnitine O-octanoyltransferase	306					carnitine metabolic process (GO:0009437)|cellular lipid metabolic process (GO:0044255)|coenzyme A metabolic process (GO:0015936)|fatty acid beta-oxidation (GO:0006635)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|fatty acid metabolic process (GO:0006631)|fatty acid transport (GO:0015908)|generation of precursor metabolites and energy (GO:0006091)|medium-chain fatty acid metabolic process (GO:0051791)|small molecule metabolic process (GO:0044281)	intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	carnitine O-octanoyltransferase activity (GO:0008458)|receptor binding (GO:0005102)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)				L-Carnitine(DB00583)	AACAGTACGCTGGGGTGACAA	0.294																																						ENST00000331536.3																			0				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						c.(916-918)Tgg>Ggg		carnitine O-octanoyltransferase	L-Carnitine(DB00583)						132	136	135					7																	87006704		2203	4300	6503	SO:0001583	missense	54677				fatty acid beta-oxidation using acyl-CoA oxidase|generation of precursor metabolites and energy|transport	peroxisomal matrix	carnitine O-octanoyltransferase activity	g.chr7:87006704T>G		CCDS5604.1, CCDS47634.1, CCDS59062.1	7q21.1	2010-02-26			ENSG00000005469	ENSG00000005469			2366	protein-coding gene	gene with protein product		606090				10486279	Standard	NM_021151		Approved	COT	uc003uit.3	Q9UKG9	OTTHUMG00000023653	ENST00000331536.3:c.916T>G	7.37:g.87006704T>G	ENSP00000331981:p.Trp306Gly					CROT_ENST00000419147.2_Missense_Mutation_p.W334G|CROT_ENST00000442291.1_Missense_Mutation_p.W306G	p.W306G	NM_021151.3	NP_066974.2	Q9UKG9	OCTC_HUMAN			10	1101	+	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)		306					A4D1D6|E7EQF2|Q86V17|Q8IUW9|Q9Y6I2	Missense_Mutation	SNP	ENST00000331536.3	37	c.916T>G	CCDS5604.1	.	.	.	.	.	.	.	.	.	.	T	18.31	3.594909	0.66219	.	.	ENSG00000005469	ENST00000419147;ENST00000331536;ENST00000442291	D;D;D	0.98296	-4.85;-4.85;-4.85	6.17	5.03	0.67393	.	0.052095	0.85682	D	0.000000	D	0.99266	0.9744	H	0.96970	3.915	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.98674	1.0689	10	0.87932	D	0	-7.0667	12.1877	0.54250	0.0:0.0658:0.0:0.9342	.	334;306	E7EQF2;Q9UKG9	.;OCTC_HUMAN	G	334;306;306	ENSP00000413575:W334G;ENSP00000331981:W306G;ENSP00000411983:W306G	ENSP00000331981:W306G	W	+	1	0	CROT	86844640	1.000000	0.71417	0.998000	0.56505	0.774000	0.43823	7.364000	0.79526	1.166000	0.42689	0.533000	0.62120	TGG		0.294	CROT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253485.1	NM_021151		8	22	0	0	0	1	0	8	22					G	87006704	T	G	87006704	3	3	305	1	0	0	0	0	1	0	0	0	3894	1580	55	5	1034	5	CROT	7	87006704	Missense_Mutation	SNP	T	TCGA-KK-A59V-01A-11D-A29Q-08	4423252	87006704	72131959	437	14954											
SRI	6717	broad.mit.edu	37	chr7	87838684	87838684	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcagtttgacgcagcaggCgatgtagtcgtcgaaggtga	9	9	14	9	4	1	2	1	2	0	0	3	4	1	2	1	2	1	4	1	2	2	2			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr7:87838684C>T	ENST00000265729.2	-	6	533	c.481G>A	c.(481-483)Gcc>Acc	p.A161T	SRI_ENST00000431660.1_Missense_Mutation_p.A146T|SRI_ENST00000490437.1_Missense_Mutation_p.A118T|SRI_ENST00000394641.3_Missense_Mutation_p.A146T|SRI_ENST00000419179.1_Missense_Mutation_p.A121T	NM_003130.3	NP_003121.1	P30626	SORCN_HUMAN	sorcin	161	EF-hand 4. {ECO:0000255|PROSITE- ProRule:PRU00448}.				action potential (GO:0001508)|calcium ion transport (GO:0006816)|cytoplasmic sequestering of transcription factor (GO:0042994)|heart development (GO:0007507)|intracellular sequestering of iron ion (GO:0006880)|muscle organ development (GO:0007517)|negative regulation of heart rate (GO:0010459)|negative regulation of ryanodine-sensitive calcium-release channel activity (GO:0060315)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0035774)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|proteolysis (GO:0006508)|regulation of calcium ion transport (GO:0051924)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cell communication by electrical coupling (GO:0010649)|regulation of cell communication by electrical coupling involved in cardiac conduction (GO:1901844)|regulation of heart contraction (GO:0008016)|regulation of high voltage-gated calcium channel activity (GO:1901841)|regulation of relaxation of muscle (GO:1901077)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of striated muscle contraction (GO:0006942)|signal transduction (GO:0007165)|transport (GO:0006810)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)|Z disc (GO:0030018)	calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|ion channel binding (GO:0044325)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|receptor binding (GO:0005102)			large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	5	Esophageal squamous(14;0.00202)					ACGCAGCAGGCGATGTAGTCG	0.443																																						ENST00000265729.2																			0				large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	5						c.(481-483)Gcc>Acc		sorcin							175	145	155					7																	87838684		2203	4300	6503	SO:0001583	missense	6717				heart development|intracellular sequestering of iron ion|muscle organ development|regulation of action potential|regulation of heart contraction|regulation of striated muscle contraction|signal transduction	sarcoplasmic reticulum membrane	calcium channel regulator activity|calcium ion binding|receptor binding	g.chr7:87838684C>T	M32886	CCDS5612.1, CCDS47638.1, CCDS59063.1	7q21.1	2014-09-17			ENSG00000075142	ENSG00000075142		"EF-hand domain containing"	11292	protein-coding gene	gene with protein product		182520				2901906	Standard	NM_001256891		Approved		uc003ujq.2	P30626	OTTHUMG00000157267	ENST00000265729.2:c.481G>A	7.37:g.87838684C>T	ENSP00000265729:p.Ala161Thr					SRI_ENST00000431660.1_Missense_Mutation_p.A146T|SRI_ENST00000419179.1_Missense_Mutation_p.A121T|SRI_ENST00000394641.3_Missense_Mutation_p.A146T|SRI_ENST00000490437.1_Missense_Mutation_p.A118T	p.A161T	NM_003130.3	NP_003121.1	P30626	SORCN_HUMAN			6	533	-	Esophageal squamous(14;0.00202)		161			EF-hand 4.		A8MTH6|B4DKK2|D6W5Q0	Missense_Mutation	SNP	ENST00000265729.2	37	c.481G>A	CCDS5612.1	.	.	.	.	.	.	.	.	.	.	C	19.03	3.747919	0.69533	.	.	ENSG00000075142	ENST00000265729;ENST00000419179;ENST00000490437;ENST00000394641;ENST00000431660	T;T;T;T;T	0.71341	-0.56;0.92;-0.56;-0.56;-0.56	5.87	5.87	0.94306	EF-hand-like domain (1);	0.058037	0.64402	D	0.000002	T	0.67552	0.2905	L	0.49640	1.575	0.45930	D	0.998761	P;B;P;P;P	0.50819	0.939;0.343;0.782;0.939;0.939	P;B;B;P;P	0.44696	0.458;0.052;0.364;0.458;0.458	T	0.67019	-0.5776	10	0.36615	T	0.2	.	13.4017	0.60887	0.0:0.9281:0.0:0.0719	.	146;121;118;146;161	B4DKK2;B4DHQ6;C9J0K6;A8MTH6;P30626	.;.;.;.;SORCN_HUMAN	T	161;121;118;146;146	ENSP00000265729:A161T;ENSP00000397609:A121T;ENSP00000418512:A118T;ENSP00000378137:A146T;ENSP00000391148:A146T	ENSP00000265729:A161T	A	-	1	0	SRI	87676620	0.995000	0.38212	0.997000	0.53966	0.992000	0.81027	3.098000	0.50259	2.774000	0.95407	0.655000	0.94253	GCC		0.443	SRI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253680.1	NM_003130		11	40	0	0	0	1	0	11	40					T	87838684	C	T	87838684	3	4	305	1	0	0	0	0	1	0	0	0	15148	768	27	1	127	1	SRI	7	87838684	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	831980	87838684	71299979	438	14955											
PPP1R9A	55607	broad.mit.edu	37	chr7	94898626	94898626	+	Intron	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggtgttccacccctcaccccGgtggatagcaatgtgccctt	6	10	10	15	1	1	0	1	0	0	0	2	1	2	1	6	3	2	2	6	3	2	3	rs374685907		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr7:94898626G>A	ENST00000433881.1	+	12	3289				PPP1R9A_ENST00000456331.2_Silent_p.P955P|PPP1R9A_ENST00000289495.5_Silent_p.P937P|PPP1R9A_ENST00000424654.1_Silent_p.P955P|PPP1R9A_ENST00000340694.4_Intron|PPP1R9A_ENST00000433360.1_Silent_p.P977P			Q9ULJ8	NEB1_HUMAN	protein phosphatase 1, regulatory subunit 9A						actin filament organization (GO:0007015)|calcium-mediated signaling (GO:0019722)|neuron projection development (GO:0031175)	cell junction (GO:0030054)|cortical actin cytoskeleton (GO:0030864)|dendritic spine (GO:0043197)|filopodium (GO:0030175)|growth cone (GO:0030426)|synapse (GO:0045202)		p.P955P(1)|p.P977P(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(11)|liver(2)|lung(22)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(8)|urinary_tract(5)	71	all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09)		STAD - Stomach adenocarcinoma(171;0.0031)			CCCTCACCCCGGTGGATAGCA	0.478										HNSCC(28;0.073)																												ENST00000289495.5																			2	Substitution - coding silent(2)	p.P955P(1)|p.P977P(1)	breast(2)	breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(11)|liver(2)|lung(22)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(8)|urinary_tract(5)	71						c.(2809-2811)ccG>ccA		protein phosphatase 1, regulatory subunit 9A		G	,,,,	0,3136		0,0,1568	68	62	64		2931,2811,2865,,	-8.8	0.3	7		64	2,7160		0,2,3579	no	coding-synonymous,coding-synonymous,coding-synonymous,intron,intron	PPP1R9A	NM_001166160.1,NM_001166161.1,NM_001166162.1,NM_001166163.1,NM_017650.2	,,,,	0,2,5147	AA,AG,GG		0.0279,0.0,0.0194	,,,,	977/1375,937/1297,955/1254,,	94898626	2,10296	1568	3581	5149	SO:0001627	intron_variant	55607					cell junction|synapse|synaptosome	actin binding	g.chr7:94898626G>A	AB033048	CCDS34683.1, CCDS55127.1, CCDS55128.1	7q21.3	2013-01-10	2011-10-04		ENSG00000158528	ENSG00000158528		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "Sterile alpha motif (SAM) domain containing"	14946	protein-coding gene	gene with protein product		602468	"protein phosphatase 1, regulatory (inhibitor) subunit 9A"			10574462	Standard	NM_001166160		Approved	Neurabin-I, KIAA1222, FLJ20068	uc010lfj.3	Q9ULJ8	OTTHUMG00000155566	ENST00000433881.1:c.2757+607G>A	7.37:g.94898626G>A		HNSCC(28;0.073)				PPP1R9A_ENST00000433360.1_Silent_p.P977P|PPP1R9A_ENST00000433881.1_Intron|PPP1R9A_ENST00000456331.2_Silent_p.P955P|PPP1R9A_ENST00000340694.4_Intron|PPP1R9A_ENST00000424654.1_Silent_p.P955P	p.P937P	NM_001166161.1	NP_001159633.1	Q9ULJ8	NEB1_HUMAN	STAD - Stomach adenocarcinoma(171;0.0031)		12	3027	+	all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09)		932			Interacts with TGN38 (By similarity).		A1L494|B2RWQ1|E9PCA0|E9PCK6|E9PDX1|F8W7J9|O76059|Q9NXT2	Silent	SNP	ENST00000433881.1	37	c.2811G>A	CCDS34683.1																																																																																				0.478	PPP1R9A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340662.1	NM_001166160		12	43	0	0	0	1	0	12	43					A	94898626	G	A	94898626	1	1	305	0	1	0	0	0	0	0	0	0	12378	1103	39	2		2	PPP1R9A	7	94898626	Intron	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	7059942	94898626	64240037	439	14956											
DYNC1I1	1780	broad.mit.edu	37	chr7	95705442	95705442	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	catgtggtcccccgtgcatcCtgcgctttttgcctgcgtgg	2	13	12	14	3	0	0	0	0	0	0	2	0	2	0	4	2	4	2	4	2	0	2			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr7:95705442C>A	ENST00000324972.6	+	15	1827	c.1634C>A	c.(1633-1635)cCt>cAt	p.P545H	DYNC1I1_ENST00000437599.1_Missense_Mutation_p.P525H|DYNC1I1_ENST00000359388.4_Missense_Mutation_p.P508H|DYNC1I1_ENST00000457059.1_Missense_Mutation_p.P528H|DYNC1I1_ENST00000537881.1_Missense_Mutation_p.P508H|DYNC1I1_ENST00000447467.2_Missense_Mutation_p.P528H	NM_004411.4	NP_004402.1	O14576	DC1I1_HUMAN	dynein, cytoplasmic 1, intermediate chain 1	545					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|metabolic process (GO:0008152)|vesicle transport along microtubule (GO:0047496)	cytoplasmic dynein complex (GO:0005868)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|kinetochore (GO:0000776)|microtubule (GO:0005874)|perinuclear region of cytoplasm (GO:0048471)|spindle pole (GO:0000922)|vesicle (GO:0031982)	microtubule binding (GO:0008017)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)|spectrin binding (GO:0030507)			NS(2)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(27)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	54	all_cancers(62;9.39e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.165)|all_lung(186;0.191)		STAD - Stomach adenocarcinoma(171;0.0957)			CCCGTGCATCCTGCGCTTTTT	0.592											OREG0018174	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000324972.6																			0				NS(2)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(27)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	54						c.(1633-1635)cCt>cAt		dynein, cytoplasmic 1, intermediate chain 1							131	113	119					7																	95705442		2203	4300	6503	SO:0001583	missense	1780				vesicle transport along microtubule	condensed chromosome kinetochore|cytoplasmic dynein complex|microtubule|perinuclear region of cytoplasm|spindle pole|vesicle	microtubule binding|microtubule motor activity	g.chr7:95705442C>A	AF063228	CCDS5644.1, CCDS47645.1, CCDS47646.1, CCDS64718.1	7q21.3-q22.1	2013-01-18	2005-11-24	2005-11-24	ENSG00000158560	ENSG00000158560		"Cytoplasmic dyneins", "WD repeat domain containing"	2963	protein-coding gene	gene with protein product		603772	"dynein, cytoplasmic, intermediate polypeptide 1"	DNCI1		10049579, 16260502	Standard	NM_004411		Approved	DNCIC1	uc003uoc.4	O14576	OTTHUMG00000153983	ENST00000324972.6:c.1634C>A	7.37:g.95705442C>A	ENSP00000320130:p.Pro545His		OREG0018174	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1315	DYNC1I1_ENST00000457059.1_Missense_Mutation_p.P528H|DYNC1I1_ENST00000537881.1_Missense_Mutation_p.P508H|DYNC1I1_ENST00000359388.4_Missense_Mutation_p.P508H|DYNC1I1_ENST00000447467.2_Missense_Mutation_p.P528H|DYNC1I1_ENST00000437599.1_Missense_Mutation_p.P525H	p.P545H	NM_004411.4	NP_004402.1	O14576	DC1I1_HUMAN	STAD - Stomach adenocarcinoma(171;0.0957)		15	1827	+	all_cancers(62;9.39e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.165)|all_lung(186;0.191)		545					B4DME3|F5H050|G5E9K1|Q8TBF7|Q9Y2X1	Missense_Mutation	SNP	ENST00000324972.6	37	c.1634C>A	CCDS5644.1	.	.	.	.	.	.	.	.	.	.	C	26.3	4.726949	0.89390	.	.	ENSG00000158560	ENST00000447467;ENST00000324972;ENST00000537881;ENST00000437599;ENST00000359388;ENST00000457059	T;T;T;T;T;T	0.79845	-1.15;-1.11;-1.31;-1.11;-1.09;-1.15	4.6	4.6	0.57074	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.048991	0.85682	D	0.000000	D	0.92554	0.7635	H	0.94385	3.53	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;0.999	D	0.94554	0.7756	10	0.87932	D	0	-20.0467	17.5841	0.87976	0.0:1.0:0.0:0.0	.	528;525;528;545;508	Q7Z6M0;G5E9K1;O14576-2;O14576;O14576-3	.;.;.;DC1I1_HUMAN;.	H	528;545;508;525;508;528	ENSP00000392337:P528H;ENSP00000320130:P545H;ENSP00000438377:P508H;ENSP00000398118:P525H;ENSP00000352348:P508H;ENSP00000412444:P528H	ENSP00000320130:P545H	P	+	2	0	DYNC1I1	95543378	1.000000	0.71417	1.000000	0.80357	0.923000	0.55619	7.588000	0.82629	2.565000	0.86533	0.313000	0.20887	CCT		0.592	DYNC1I1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333432.1	NM_004411		37	72	1	0	4.62619e-21	1	4.85503e-21	37	72					A	95705442	C	A	95705442	3	1	305	1	0	0	0	0	1	0	0	0	4842	681	24	5	1688	5	DYNC1I1	7	95705442	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	806816	95705442	63433221	440	14957											
CYP3A7	1551	broad.mit.edu	37	chr7	99305556	99305556	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtccacttccaaagggtgtgTatatgtaaggatctatgttg	10	14	11	6	0	1	0	0	0	1	0	3	1	3	1	2	2	0	3	2	2	5	6			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr7:99305556T>C	ENST00000336374.2	-	12	1297	c.1295A>G	c.(1294-1296)tAc>tGc	p.Y432C		NM_000765.3	NP_000756.2	P24462	CP3A7_HUMAN	cytochrome P450, family 3, subfamily A, polypeptide 7	432					small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxygen binding (GO:0019825)			autonomic_ganglia(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	32	Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228)				Alfentanil(DB00802)|Alprazolam(DB00404)|Aminophenazone(DB01424)|Amiodarone(DB01118)|Amlodipine(DB00381)|Aprepitant(DB00673)|Aripiprazole(DB01238)|Astemizole(DB00637)|Atorvastatin(DB01076)|Buprenorphine(DB00921)|Buspirone(DB00490)|Caffeine(DB00201)|Carbamazepine(DB00564)|Chloramphenicol(DB00446)|Chlorphenamine(DB01114)|Cilostazol(DB01166)|Cimetidine(DB00501)|Ciprofloxacin(DB00537)|Cisapride(DB00604)|Clarithromycin(DB01211)|Clotrimazole(DB00257)|Cocaine(DB00907)|Codeine(DB00318)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dapsone(DB00250)|Delavirdine(DB00705)|Dexamethasone(DB01234)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Diazepam(DB00829)|Diltiazem(DB00343)|Docetaxel(DB01248)|Dolutegravir(DB08930)|Domperidone(DB01184)|Eplerenone(DB00700)|Erythromycin(DB00199)|Estradiol(DB00783)|Ethosuximide(DB00593)|Ethylmorphine(DB01466)|Felodipine(DB01023)|Fentanyl(DB00813)|Finasteride(DB01216)|Fluconazole(DB00196)|Fluticasone Propionate(DB00588)|Fluvoxamine(DB00176)|Gestodene(DB06730)|Haloperidol(DB00502)|Hydrocortisone(DB00741)|Ifosfamide(DB01181)|Iloperidone(DB04946)|Imatinib(DB00619)|Imipramine(DB00458)|Indinavir(DB00224)|Irinotecan(DB00762)|Itraconazole(DB01167)|Ketoconazole(DB01026)|Lercanidipine(DB00528)|Levomethadyl Acetate(DB01227)|Lidocaine(DB00281)|Lovastatin(DB00227)|Methadone(DB00333)|Midazolam(DB00683)|Mifepristone(DB00834)|Nateglinide(DB00731)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Nifedipine(DB01115)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Norethindrone(DB00717)|Norfloxacin(DB01059)|Ondansetron(DB00904)|Oxazepam(DB00842)|Oxycodone(DB00497)|Paclitaxel(DB01229)|Phenelzine(DB00780)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Pimozide(DB01100)|Praziquantel(DB01058)|Progesterone(DB00396)|Propranolol(DB00571)|Quetiapine(DB01224)|Quinidine(DB00908)|Quinine(DB00468)|Rifampicin(DB01045)|Rifapentine(DB01201)|Risperidone(DB00734)|Ritonavir(DB00503)|Salmeterol(DB00938)|Saquinavir(DB01232)|Sildenafil(DB00203)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sorafenib(DB00398)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tamoxifen(DB00675)|Telithromycin(DB00976)|Temsirolimus(DB06287)|Testosterone(DB00624)|Trazodone(DB00656)|Tretinoin(DB00755)|Triazolam(DB00897)|Verapamil(DB00661)|Vincristine(DB00541)|Voriconazole(DB00582)|Zalcitabine(DB00943)|Zaleplon(DB00962)|Ziprasidone(DB00246)|Zolpidem(DB00425)	AAAGGGTGTGTATATGTAAGG	0.388																																						ENST00000336374.2																			0				autonomic_ganglia(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	32						c.(1294-1296)tAc>tGc		cytochrome P450, family 3, subfamily A, polypeptide 7							373	333	347					7																	99305556		2203	4300	6503	SO:0001583	missense	1551				xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding	g.chr7:99305556T>C	AF315325	CCDS5673.1	7q21-q22.1	2007-12-14	2003-01-14		ENSG00000160870	ENSG00000160870		"Cytochrome P450s"	2640	protein-coding gene	gene with protein product		605340	"cytochrome P450, subfamily IIIA, polypeptide 7"			2722762	Standard	NM_000765		Approved	CP37, P450-HFLA		P24462	OTTHUMG00000156726	ENST00000336374.2:c.1295A>G	7.37:g.99305556T>C	ENSP00000337450:p.Tyr432Cys						p.Y432C	NM_000765.3	NP_000756.2	P24462	CP3A7_HUMAN			12	1297	-	Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228)		432					A4D288|Q9H241	Missense_Mutation	SNP	ENST00000336374.2	37	c.1295A>G	CCDS5673.1	.	.	.	.	.	.	.	.	.	.	t	9.820	1.185504	0.21870	.	.	ENSG00000160870	ENST00000292414;ENST00000336374	T	0.72505	-0.66	3.74	2.44	0.29823	.	0.123210	0.56097	D	0.000023	D	0.87633	0.6226	H	0.98351	4.21	0.09310	N	0.999998	D	0.89917	1.0	D	0.91635	0.999	T	0.77078	-0.2721	10	0.87932	D	0	.	6.0164	0.19605	0.3784:0.0:0.0:0.6216	.	432	P24462	CP3A7_HUMAN	C	432	ENSP00000337450:Y432C	ENSP00000292414:Y432C	Y	-	2	0	CYP3A7	99143492	0.122000	0.22280	0.010000	0.14722	0.300000	0.27592	0.270000	0.18607	1.459000	0.47892	0.402000	0.26972	TAC		0.388	CYP3A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345484.1			7	162	0	0	0	1	0	7	162					C	99305556	T	C	99305556	3	2	305	1	0	0	0	0	1	0	0	0	4181	1638	57	4	224	4	CYP3A7	7	99305556	Missense_Mutation	SNP	T	TCGA-KK-A59V-01A-11D-A29Q-08	3600114	99305556	59833107	441	14958											
MCM7	4176	broad.mit.edu	37	chr7	99690698	99690698	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctcagagaaccggacacttcGgccccctgagaccagttcac	10	6	9	16	2	2	2	2	1	0	2	3	5	2	3	4	2	1	1	4	2	1	2	rs532820415		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr7:99690698G>A	ENST00000303887.5	-	15	2662	c.2017C>T	c.(2017-2019)Cga>Tga	p.R673*	MIR106B_ENST00000385301.1_RNA|MIR25_ENST00000384816.1_RNA|MIR93_ENST00000385024.1_RNA|MCM7_ENST00000343023.6_Nonsense_Mutation_p.R343*|MCM7_ENST00000354230.3_Nonsense_Mutation_p.R497*	NM_005916.3	NP_005907.3	P33993	MCM7_HUMAN	minichromosome maintenance complex component 7	673	Interaction with ATRIP.				cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to epidermal growth factor stimulus (GO:0071364)|DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA unwinding involved in DNA replication (GO:0006268)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|regulation of phosphorylation (GO:0042325)|response to drug (GO:0042493)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|MCM complex (GO:0042555)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA helicase activity (GO:0003678)|single-stranded DNA binding (GO:0003697)			endometrium(1)|kidney(5)|large_intestine(5)|lung(4)|ovary(1)|stomach(1)	17	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CGGACACTTCGGCCCCCTGAG	0.547													G|||	1	0.000199681	0	0	5008	,	,		20659	0		0	False		,,,				2504	0.001					ENST00000303887.5																			0				endometrium(1)|kidney(5)|large_intestine(5)|lung(4)|ovary(1)|stomach(1)	17						c.(2017-2019)Cga>Tga		minichromosome maintenance complex component 7	Atorvastatin(DB01076)						66	57	60					7																	99690698		2203	4300	6503	SO:0001587	stop_gained	4176				cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|regulation of phosphorylation|response to DNA damage stimulus|S phase of mitotic cell cycle	chromatin|MCM complex	ATP binding|protein binding	g.chr7:99690698G>A		CCDS5683.1, CCDS5684.1	7q21.3-q22.1	2014-06-12	2007-04-04		ENSG00000166508	ENSG00000166508			6950	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 104"	600592	"minichromosome maintenance deficient (S. cerevisiae) 7", "MCM7 minichromosome maintenance deficient 7 (S. cerevisiae)"	MCM2		7842741	Standard	NM_005916		Approved	CDC47, PPP1R104	uc003usw.1	P33993	OTTHUMG00000154671	ENST00000303887.5:c.2017C>T	7.37:g.99690698G>A	ENSP00000307288:p.Arg673*					MCM7_ENST00000343023.6_Nonsense_Mutation_p.R343*|MCM7_ENST00000354230.3_Nonsense_Mutation_p.R497*	p.R673*	NM_005916.3	NP_005907.3	P33993	MCM7_HUMAN			15	2662	-	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		673			Interaction with ATRIP.		A4D2A1|A4D2A2|E9PGN9|Q15076|Q96D34|Q96GL1	Nonsense_Mutation	SNP	ENST00000303887.5	37	c.2017C>T	CCDS5683.1	.	.	.	.	.	.	.	.	.	.	G	46	12.344318	0.99659	.	.	ENSG00000166508	ENST00000343023;ENST00000303887;ENST00000542483;ENST00000362082;ENST00000354230	.	.	.	5.98	1.9	0.25705	.	0.593663	0.15812	N	0.243435	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.08837	T	0.75	-15.2872	9.3413	0.38082	0.0731:0.0:0.6284:0.2984	.	.	.	.	X	343;673;610;566;497	.	ENSP00000307288:R673X	R	-	1	2	MCM7	99528634	0.223000	0.23663	0.062000	0.19696	0.634000	0.38068	0.960000	0.29253	0.069000	0.16605	0.591000	0.81541	CGA		0.547	MCM7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336534.3			11	38	0	0	0	1	0	11	38					A	99690698	G	A	99690698	4	1	305	1	0	0	0	0	0	1	0	0	9392	1124	39	2	146	2	MCM7	7	99690698	Nonsense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	385142	99690698	59447965	442	14959											
MOSPD3	64598	broad.mit.edu	37	chr7	100210470	100210470	+	Frame_Shift_Del	DEL	G	G	-																															gggtccggggccccctgggcGggggtcccggggcgcccctc																										TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr7:100210470delG	ENST00000393950.2	+	1	338	c.56delG	c.(55-57)cggfs	p.R19fs	MOSPD3_ENST00000424091.2_Frame_Shift_Del_p.R19fs|MOSPD3_ENST00000223054.4_Frame_Shift_Del_p.R19fs|MOSPD3_ENST00000379527.2_Frame_Shift_Del_p.R19fs	NM_023948.4	NP_076438.1	O75425	MSPD3_HUMAN	motile sperm domain containing 3	19					heart development (GO:0007507)	integral component of membrane (GO:0016021)	structural molecule activity (GO:0005198)			breast(1)|kidney(3)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	16	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					ccccctgggcgggggtcccgg	0.736																																						ENST00000393950.2																			0				breast(1)|kidney(3)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	16						c.(55-57)cgfs		motile sperm domain containing 3							12	15	14					7																	100210470		1983	4031	6014	SO:0001589	frameshift_variant	64598					integral to membrane	structural molecule activity	g.chr7:100210470delG	BC011653	CCDS5701.1, CCDS47662.1	7q22	2009-11-06			ENSG00000106330	ENSG00000106330			25078	protein-coding gene	gene with protein product		609125				15533722	Standard	XM_005250531		Approved	CDS3, NET30	uc003uvs.3	O75425	OTTHUMG00000159599	ENST00000393950.2:c.56delG	7.37:g.100210470delG	ENSP00000377522:p.Arg19fs					MOSPD3_ENST00000379527.2_Frame_Shift_Del_p.R19fs|MOSPD3_ENST00000223054.4_Frame_Shift_Del_p.R19fs|MOSPD3_ENST00000424091.2_Frame_Shift_Del_p.R19fs	p.R19fs	NM_023948.4	NP_076438.1	O75425	MSPD3_HUMAN			1	338	+	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)		19					A4D2D1|A6NG17|C9JE89|D6W5W1|O75423|O75424	Frame_Shift_Del	DEL	ENST00000393950.2	37	c.56delG	CCDS5701.1																																																																																				0.736	MOSPD3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356395.1	NM_023948		14	55						14	55	---	---	---	---	-	100210470	G	-	100210470	7	5	305	1	0	1	0	1	0	0	0	0	9717	1116	39	0	58	0	MOSPD3	7	100210470	Frame_Shift_Del	DEL	G	TCGA-KK-A59V-01A-11D-A29Q-08	519772	100210470	58928193	443	14960											
MOSPD3	64598	broad.mit.edu	37	chr7	100212599	100212599	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacgaactcggcagccagctGcctcaagtcctgcacgtctc	8	7	10	16	3	2	0	1	0	1	0	5	2	3	0	3	1	5	3	3	1	2	0			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr7:100212599G>A	ENST00000393950.2	+	4	903	c.621G>A	c.(619-621)ctG>ctA	p.L207L	MOSPD3_ENST00000424091.2_Silent_p.L197L|MOSPD3_ENST00000223054.4_Silent_p.L207L|MOSPD3_ENST00000379527.2_Silent_p.L207L	NM_023948.4	NP_076438.1	O75425	MSPD3_HUMAN	motile sperm domain containing 3	207					heart development (GO:0007507)	integral component of membrane (GO:0016021)	structural molecule activity (GO:0005198)			breast(1)|kidney(3)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	16	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					GCAGCCAGCTGCCTCAAGTCC	0.617																																						ENST00000393950.2																			0				breast(1)|kidney(3)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	16						c.(619-621)ctG>ctA		motile sperm domain containing 3							99	104	103					7																	100212599		2203	4300	6503	SO:0001819	synonymous_variant	64598					integral to membrane	structural molecule activity	g.chr7:100212599G>A	BC011653	CCDS5701.1, CCDS47662.1	7q22	2009-11-06			ENSG00000106330	ENSG00000106330			25078	protein-coding gene	gene with protein product		609125				15533722	Standard	XM_005250531		Approved	CDS3, NET30	uc003uvs.3	O75425	OTTHUMG00000159599	ENST00000393950.2:c.621G>A	7.37:g.100212599G>A						MOSPD3_ENST00000223054.4_Silent_p.L207L|MOSPD3_ENST00000379527.2_Silent_p.L207L|MOSPD3_ENST00000424091.2_Silent_p.L197L	p.L207L	NM_023948.4	NP_076438.1	O75425	MSPD3_HUMAN			4	903	+	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)		207					A4D2D1|A6NG17|C9JE89|D6W5W1|O75423|O75424	Silent	SNP	ENST00000393950.2	37	c.621G>A	CCDS5701.1																																																																																				0.617	MOSPD3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356395.1	NM_023948		6	213	0	0	0	1	0	6	213					A	100212599	G	A	100212599	2	1	305	1	0	0	0	0	0	0	0	1	9717	1306	46	3		3	MOSPD3	7	100212599	Silent	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	2129	100212599	58926064	444	14961											
ACTL6B	51412	broad.mit.edu	37	chr7	100243916	100243916	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gatccaggggctgaacttgcGctccatggtgctgttgctgg	5	11	15	10	1	0	1	0	1	0	0	2	2	2	1	2	4	4	5	2	4	1	2			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr7:100243916G>A	ENST00000160382.5	-	13	1262	c.1156C>T	c.(1156-1158)Cgc>Tgc	p.R386C		NM_016188.4	NP_057272.1	O94805	ACL6B_HUMAN	actin-like 6B	386					chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|nervous system development (GO:0007399)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	structural constituent of cytoskeleton (GO:0005200)|transcription coactivator activity (GO:0003713)	p.R386C(1)		endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|skin(1)	13	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)					CTGAACTTGCGCTCCATGGTG	0.607																																						ENST00000160382.5																			1	Substitution - Missense(1)	p.R386C(1)	endometrium(1)	endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|skin(1)	13						c.(1156-1158)Cgc>Tgc		actin-like 6B							75	63	67					7																	100243916		2203	4300	6503	SO:0001583	missense	51412				chromatin modification|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nBAF complex|SWI/SNF complex	ATP binding|protein binding|structural constituent of cytoskeleton	g.chr7:100243916G>A	AB015906	CCDS5702.1	7q22	2008-02-01	2004-07-12	2004-07-14	ENSG00000077080	ENSG00000077080			160	protein-coding gene	gene with protein product		612458	"actin-like 6"	ACTL6		9799793	Standard	NM_016188		Approved	BAF53B	uc003uvy.3	O94805	OTTHUMG00000159661	ENST00000160382.5:c.1156C>T	7.37:g.100243916G>A	ENSP00000160382:p.Arg386Cys						p.R386C	NM_016188.4	NP_057272.1	O94805	ACL6B_HUMAN			13	1262	-	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)		386					A4D2D0|O75421	Missense_Mutation	SNP	ENST00000160382.5	37	c.1156C>T	CCDS5702.1	.	.	.	.	.	.	.	.	.	.	G	18.79	3.698565	0.68386	.	.	ENSG00000077080	ENST00000160382	D	0.96365	-3.99	5.71	3.73	0.42828	.	0.000000	0.64402	D	0.000002	D	0.98551	0.9516	H	0.96720	3.87	0.80722	D	1	D	0.89917	1.0	D	0.74674	0.984	D	0.98154	1.0443	10	0.87932	D	0	.	12.0302	0.53394	0.0:0.0:0.6983:0.3017	.	386	O94805	ACL6B_HUMAN	C	386	ENSP00000160382:R386C	ENSP00000160382:R386C	R	-	1	0	ACTL6B	100081852	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.245000	0.51407	2.710000	0.92621	0.655000	0.94253	CGC		0.607	ACTL6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356745.1	NM_016188		7	34	0	0	0	1	0	7	34					A	100243916	G	A	100243916	3	1	305	1	0	0	0	0	1	0	0	0	199	1087	38	1	132	1	ACTL6B	7	100243916	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	31317	100243916	58894747	445	14962											
ZAN	7455	broad.mit.edu	37	chr7	100357394	100357394	+	RNA	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggagcagggacaggaaggcGtgtcctgcctgagcaaagtc	11	5	16	9	1	0	1	0	1	0	0	2	4	1	4	2	4	3	2	2	4	2	0			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr7:100357394G>A	ENST00000348028.3	+	0	3787				ZAN_ENST00000546213.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000542585.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000538115.1_RNA			Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida (GO:0007339)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			ACAGGAAGGCGTGTCCTGCCT	0.582																																						ENST00000542585.1																			0				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139								zonadhesin (gene/pseudogene)							40	44	42					7																	100357394		2092	4214	6306			7455				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane		g.chr7:100357394G>A	U83191		7q22.1	2013-10-10	2013-10-10		ENSG00000146839	ENSG00000146839			12857	protein-coding gene	gene with protein product		602372	"zonadhesin"			9799793, 17033959	Standard	NM_003386		Approved		uc003uwk.3	Q9Y493	OTTHUMG00000157037		7.37:g.100357394G>A						ZAN_ENST00000427578.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000349350.6_RNA		NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	STAD - Stomach adenocarcinoma(171;0.19)		0	3770	+	Lung NSC(181;0.041)|all_lung(186;0.0581)							A0FKC8|D6W5W4|O00218|Q96L85|Q96L86|Q96L87|Q96L88|Q96L89|Q96L90|Q9BXN9|Q9BZ83|Q9BZ84|Q9BZ85|Q9BZ86|Q9BZ87|Q9BZ88	RNA	SNP	ENST00000348028.3	37			.	.	.	.	.	.	.	.	.	.	g	4.897	0.166621	0.09339	.	.	ENSG00000146839	ENST00000546292;ENST00000538115;ENST00000542585	T;T;T	0.60424	0.19;0.19;0.19	4.23	-7.52	0.01341	von Willebrand factor, type D domain (3);	1.357460	0.05132	N	0.492716	T	0.44052	0.1275	L	0.60957	1.885	0.44652	D	0.997636	P;P	0.44241	0.795;0.829	B;B	0.33295	0.1;0.161	T	0.53767	-0.8392	10	0.49607	T	0.09	.	8.4073	0.32622	0.629:0.1166:0.2544:0.0	.	1208;1208	F5H0T8;Q9Y493	.;ZAN_HUMAN	M	1208	ENSP00000445943:V1208M;ENSP00000445091:V1208M;ENSP00000444427:V1208M	ENSP00000423579:V1208M	V	+	1	0	ZAN	100195330	0.212000	0.23540	0.000000	0.03702	0.002000	0.02628	0.194000	0.17135	-1.881000	0.01123	-1.096000	0.02151	GTG		0.582	ZAN-006	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000347214.1	NM_003386		6	10	0	0	0	1	0	6	10					A	100357394	G	A	100357394	1	1	305	0	1	0	0	0	0	0	0	0	17510	1145	40	1		1	ZAN	7	100357394	RNA	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	113478	100357394	58781269	446	14963											
SRRT	51593	broad.mit.edu	37	chr7	100479773	100479773	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gatgactcggtggatgagacGgaggccgtcaagcgctataa	11	7	15	8	4	1	2	1	2	0	1	2	6	1	4	1	4	1	1	1	4	3	2	rs539649940		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr7:100479773G>A	ENST00000347433.4	+	5	656	c.498G>A	c.(496-498)acG>acA	p.T166T	SRRT_ENST00000432932.1_Silent_p.T166T|SRRT_ENST00000388793.4_Silent_p.T166T|SRRT_ENST00000457580.2_Silent_p.T166T			Q9BXP5	SRRT_HUMAN	serrate, RNA effector molecule	166					cell proliferation (GO:0008283)|neuronal stem cell maintenance (GO:0097150)|primary miRNA processing (GO:0031053)|regulation of transcription, DNA-templated (GO:0006355)|response to arsenic-containing substance (GO:0046685)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						TGGATGAGACGGAGGCCGTCA	0.567													G|||	1	0.000199681	0	0.0014	5008	,	,		16799	0		0	False		,,,				2504	0					ENST00000388793.4																			0				breast(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						c.(496-498)acG>acA		serrate RNA effector molecule homolog (Arabidopsis)							131	114	120					7																	100479773		2203	4300	6503	SO:0001819	synonymous_variant	51593				cell proliferation|primary miRNA processing|response to arsenic-containing substance	cytoplasm|nucleoplasm	protein binding	g.chr7:100479773G>A		CCDS34709.1, CCDS47665.1, CCDS47666.1, CCDS47667.1	7q21	2014-04-14	2014-04-14		ENSG00000087087	ENSG00000087087			24101	protein-coding gene	gene with protein product	"arsenite resistance protein"	614469	"serrate RNA effector molecule homolog (Arabidopsis)"			11239002, 11230166	Standard	NM_015908		Approved	Asr2, serrate, ARS2	uc003uwy.2	Q9BXP5	OTTHUMG00000157031	ENST00000347433.4:c.498G>A	7.37:g.100479773G>A						SRRT_ENST00000432932.1_Silent_p.T166T|SRRT_ENST00000347433.4_Silent_p.T166T|SRRT_ENST00000457580.2_Silent_p.T166T	p.T166T	NM_001128852.1|NM_015908.5	NP_001122324.1|NP_056992.4	Q9BXP5	SRRT_HUMAN			5	718	+			166					A4D2E5|A4D2E6|A6NK22|B4DJL4|B4DZA6|O95808|Q32MI4|Q6NT74|Q8TDQ5|Q9BWP6|Q9BXP4|Q9Y4S4	Silent	SNP	ENST00000347433.4	37	c.498G>A	CCDS34709.1																																																																																				0.567	SRRT-004	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000347168.1	NM_015908		22	50	0	0	0	1	0	22	50					A	100479773	G	A	100479773	2	1	305	1	0	0	0	0	0	0	0	1	15171	1103	39	2		2	SRRT	7	100479773	Silent	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	122379	100479773	58658890	447	14964											
ACHE	43	broad.mit.edu	37	chr7	100490935	100490935	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caccaggacctgcgctggtcGtgtccgaaggcaggctacca	8	6	13	14	3	0	0	0	0	0	0	2	2	1	1	4	4	2	3	4	4	2	1			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr7:100490935G>A	ENST00000412389.1	-	1	1074	c.919C>T	c.(919-921)Cga>Tga	p.R307*	ACHE_ENST00000302913.4_Nonsense_Mutation_p.R307*|ACHE_ENST00000411582.1_Nonsense_Mutation_p.R307*|ACHE_ENST00000428317.1_Nonsense_Mutation_p.R307*|ACHE_ENST00000419336.2_Nonsense_Mutation_p.R307*|ACHE_ENST00000241069.5_Nonsense_Mutation_p.R307*|ACHE_ENST00000497647.1_5'Flank			P22303	ACES_HUMAN	acetylcholinesterase (Yt blood group)	307					acetylcholine catabolic process (GO:0006581)|acetylcholine catabolic process in synaptic cleft (GO:0001507)|amyloid precursor protein metabolic process (GO:0042982)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|choline metabolic process (GO:0019695)|DNA replication (GO:0006260)|glycerophospholipid biosynthetic process (GO:0046474)|muscle organ development (GO:0007517)|negative regulation of synaptic transmission, cholinergic (GO:0032223)|nervous system development (GO:0007399)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter receptor biosynthetic process (GO:0045212)|osteoblast development (GO:0002076)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|positive regulation of protein secretion (GO:0050714)|protein tetramerization (GO:0051262)|receptor internalization (GO:0031623)|regulation of axonogenesis (GO:0050770)|regulation of dendrite morphogenesis (GO:0048814)|regulation of receptor recycling (GO:0001919)|response to wounding (GO:0009611)|retina development in camera-type eye (GO:0060041)|small molecule metabolic process (GO:0044281)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic transmission, cholinergic (GO:0007271)	anchored component of membrane (GO:0031225)|axon (GO:0030424)|basal lamina (GO:0005605)|cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|synapse (GO:0045202)	acetylcholine binding (GO:0042166)|acetylcholinesterase activity (GO:0003990)|beta-amyloid binding (GO:0001540)|cholinesterase activity (GO:0004104)|collagen binding (GO:0005518)|hydrolase activity (GO:0016787)|laminin binding (GO:0043236)|protein homodimerization activity (GO:0042803)|serine hydrolase activity (GO:0017171)			large_intestine(3)|lung(7)|skin(3)|urinary_tract(3)	16	Lung NSC(181;0.041)|all_lung(186;0.0581)				Ambenonium(DB01122)|Choline(DB00122)|Decamethonium(DB01245)|Demecarium(DB00944)|Dipivefrin(DB00449)|Donepezil(DB00843)|Edrophonium(DB01010)|Ephedrine(DB01364)|Galantamine(DB00674)|Gallamine Triethiodide(DB00483)|Isoflurophate(DB00677)|Mefloquine(DB00358)|Minaprine(DB00805)|Neostigmine(DB01400)|Physostigmine(DB00981)|Pralidoxime(DB00733)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Tubocurarine(DB01199)	TGCGCTGGTCGTGTCCGAAGG	0.627																																						ENST00000302913.4																			0				large_intestine(3)|lung(7)|skin(3)|urinary_tract(3)	16						c.(919-921)Cga>Tga		acetylcholinesterase	Ambenonium(DB01122)|Atropine(DB00572)|Choline(DB00122)|Decamethonium(DB01245)|Demecarium bromide(DB00944)|Donepezil(DB00843)|Edrophonium(DB01010)|Ephedrine(DB01364)|Galantamine(DB00674)|Gallamine Triethiodide(DB00483)|Isoflurophate(DB00677)|Neostigmine(DB01400)|Physostigmine(DB00981)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Tacrine(DB00382)|Tubocurarine(DB01199)						83	63	70					7																	100490935		2203	4300	6503	SO:0001587	stop_gained	43				acetylcholine catabolic process in synaptic cleft|amyloid precursor protein metabolic process|cell adhesion|cell proliferation|choline metabolic process|DNA replication|muscle organ development|neurotransmitter biosynthetic process|osteoblast development|positive regulation of protein secretion|regulation of axonogenesis|regulation of dendrite morphogenesis|response to wounding|synapse assembly	anchored to membrane|axon|basal lamina|cell junction|cell surface|dendrite|endoplasmic reticulum lumen|extracellular space|Golgi apparatus|neuromuscular junction|nucleus|perinuclear region of cytoplasm|postsynaptic membrane|presynaptic membrane|synaptic cleft	acetylcholine binding|acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|collagen binding|laminin-1 binding|protein homodimerization activity|serine hydrolase activity	g.chr7:100490935G>A		CCDS5709.1, CCDS5710.1, CCDS64736.1	7q22	2014-07-19	2014-01-02		ENSG00000087085	ENSG00000087085	3.1.1.7	"Blood group antigens"	108	protein-coding gene	gene with protein product	"Yt blood group"	100740	"acetylcholinesterase (YT blood group)", "acetylcholinesterase (Yt blood group)", "acetylcholinesterase"	YT		1380483	Standard	XM_005250357		Approved		uc003uxe.3	P22303	OTTHUMG00000157033	ENST00000412389.1:c.919C>T	7.37:g.100490935G>A	ENSP00000394976:p.Arg307*					ACHE_ENST00000241069.5_Nonsense_Mutation_p.R307*|ACHE_ENST00000412389.1_Nonsense_Mutation_p.R307*|ACHE_ENST00000411582.1_Nonsense_Mutation_p.R307*|ACHE_ENST00000428317.1_Nonsense_Mutation_p.R307*|ACHE_ENST00000419336.2_Nonsense_Mutation_p.R307*	p.R307*	NM_015831.2	NP_056646.1	P22303	ACES_HUMAN			2	1057	-	Lung NSC(181;0.041)|all_lung(186;0.0581)		307					A4D2E2|B7ZKZ0|D6W5X7|Q16169|Q29S23|Q2M324|Q504V3|Q53F46|Q86TM9|Q86YX9|Q9BXP7	Nonsense_Mutation	SNP	ENST00000412389.1	37	c.919C>T	CCDS5709.1	.	.	.	.	.	.	.	.	.	.	G	25.3	4.624617	0.87560	.	.	ENSG00000087085	ENST00000419336;ENST00000241069;ENST00000428317;ENST00000302913;ENST00000412389;ENST00000426415;ENST00000430554;ENST00000411582;ENST00000422451	.	.	.	4.95	3.03	0.35002	.	0.121984	0.53938	D	0.000050	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.17369	T	0.5	.	10.7151	0.46008	0.0:0.0:0.497:0.503	.	.	.	.	X	307	.	ENSP00000241069:R307X	R	-	1	2	ACHE	100328871	0.004000	0.15560	0.923000	0.36655	0.955000	0.61496	1.041000	0.30291	0.415000	0.25817	0.484000	0.47621	CGA		0.627	ACHE-013	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347201.1	NM_015831		15	26	0	0	0	1	0	15	26					A	100490935	G	A	100490935	4	1	305	1	0	0	0	0	0	1	0	0	141	1153	40	1	1076	1	ACHE	7	100490935	Nonsense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	11162	100490935	58647728	448	14965											
SLC26A4	5172	broad.mit.edu	37	chr7	107323940	107323940	+	Frame_Shift_Del	DEL	A	A	-																															ttcatatggagccaacctggAaaaaaattacaatgctggca																										TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr7:107323940delA	ENST00000265715.3	+	8	1183	c.959delA	c.(958-960)gaafs	p.E320fs		NM_000441.1	NP_000432.1	O43511	S26A4_HUMAN	solute carrier family 26 (anion exchanger), member 4	320					chloride transmembrane transport (GO:1902476)|inorganic anion transport (GO:0015698)|ion transport (GO:0006811)|regulation of pH (GO:0006885)|regulation of protein localization (GO:0032880)|sensory perception of sound (GO:0007605)|sulfate transmembrane transport (GO:1902358)|sulfate transport (GO:0008272)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	chloride transmembrane transporter activity (GO:0015108)|iodide transmembrane transporter activity (GO:0015111)|secondary active sulfate transmembrane transporter activity (GO:0008271)|sulfate transmembrane transporter activity (GO:0015116)			central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(8)|lung(16)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						GCCAACCTGGAAAAAAATTAC	0.343									Pendred syndrome																													ENST00000265715.3																			0				central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(8)|lung(16)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						c.(958-960)gafs		solute carrier family 26 (anion exchanger), member 4							75	76	75					7																	107323940		2203	4300	6503	SO:0001589	frameshift_variant	5172	Pendred syndrome	Familial Cancer Database	Goiter-Deafness syndrome	regulation of pH|regulation of protein localization|sensory perception of sound	apical plasma membrane|integral to membrane	chloride transmembrane transporter activity|inorganic anion exchanger activity|iodide transmembrane transporter activity|secondary active sulfate transmembrane transporter activity	g.chr7:107323940delA	AF030880	CCDS5746.1	7q31	2013-07-18	2013-07-18		ENSG00000091137	ENSG00000091137		"Solute carriers"	8818	protein-coding gene	gene with protein product	"pendrin"	605646	"solute carrier family 26, member 4"	DFNB4		9500541, 11087667	Standard	NM_000441		Approved	PDS	uc003vep.3	O43511	OTTHUMG00000154807	ENST00000265715.3:c.959delA	7.37:g.107323940delA	ENSP00000265715:p.Glu320fs						p.E320fs	NM_000441.1	NP_000432.1	O43511	S26A4_HUMAN			8	1183	+			320					B7Z266|O43170	Frame_Shift_Del	DEL	ENST00000265715.3	37	c.959delA	CCDS5746.1																																																																																				0.343	SLC26A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337148.1	NM_000441		17	56						17	56	---	---	---	---	-	107323940	A	-	107323940	7	5	305	1	0	1	0	1	0	0	0	0	14519	246	9	0	985	0	SLC26A4	7	107323940	Frame_Shift_Del	DEL	A	TCGA-KK-A59V-01A-11D-A29Q-08	6833005	107323940	51814723	449	14966											
CADPS2	93664	broad.mit.edu	37	chr7	122078450	122078450	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttgatcaaggcagctttctcGagacattttctgaccacttt	9	15	7	10	1	3	3	1	2	2	1	4	4	3	3	1	1	1	2	1	1	1	5	rs376933238		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr7:122078450G>A	ENST00000449022.2	-	17	2440	c.2421C>T	c.(2419-2421)ctC>ctT	p.L807L	RP5-1101C3.1_ENST00000592542.1_RNA|CADPS2_ENST00000313070.7_Silent_p.L804L|CADPS2_ENST00000334010.7_Silent_p.L808L|CADPS2_ENST00000412584.2_Silent_p.L804L	NM_017954.10	NP_060424.9	Q86UW7	CAPS2_HUMAN	Ca++-dependent secretion activator 2	807	Interaction with DRD2.				cellular response to starvation (GO:0009267)|positive regulation of exocytosis (GO:0045921)|protein transport (GO:0015031)|synaptic vesicle priming (GO:0016082)	cell junction (GO:0030054)|cytoplasmic membrane-bounded vesicle (GO:0016023)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	lipid binding (GO:0008289)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(2)	43						CAGCTTTCTCGAGACATTTTC	0.453																																						ENST00000334010.7																			0				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(2)	43						c.(2422-2424)ctC>ctT		Ca++-dependent secretion activator 2							106	98	100					7																	122078450		1927	4126	6053	SO:0001819	synonymous_variant	93664				exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|synapse	lipid binding|metal ion binding	g.chr7:122078450G>A		CCDS47691.1, CCDS55158.1	7q31.32	2013-01-10	2008-08-28		ENSG00000081803	ENSG00000081803		"Pleckstrin homology (PH) domain containing"	16018	protein-coding gene	gene with protein product		609978	"Ca++-dependent activator protein for secretion 2"				Standard	NM_017954		Approved		uc010lkq.3	Q86UW7	OTTHUMG00000157093	ENST00000449022.2:c.2421C>T	7.37:g.122078450G>A						CADPS2_ENST00000449022.2_Silent_p.L807L|CADPS2_ENST00000412584.2_Silent_p.L804L|CADPS2_ENST00000313070.7_Silent_p.L804L|RP5-1101C3.1_ENST00000592542.1_RNA	p.L808L	NM_001167940.1	NP_001161412.1	Q86UW7	CAPS2_HUMAN			16	2845	-			807			Interaction with DRD2.		A4D0X3|B7ZM56|Q658Q2|Q7Z5T7|Q8IZW9|Q8N7M4|Q9H6P4|Q9HCI1|Q9NWK8	Silent	SNP	ENST00000449022.2	37	c.2424C>T	CCDS55158.1	.	.	.	.	.	.	.	.	.	.	G	6.125	0.391211	0.11581	.	.	ENSG00000081803	ENST00000397721	.	.	.	5.71	-11.4	0.00090	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-11.8313	8.3483	0.32286	0.1731:0.541:0.1571:0.1289	.	.	.	.	X	453	.	.	R	-	1	2	CADPS2	121865686	0.330000	0.24705	0.455000	0.27031	0.984000	0.73092	-0.426000	0.07008	-2.317000	0.00644	-0.878000	0.02970	CGA		0.453	CADPS2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000347414.2	NM_017954		13	25	0	0	0	1	0	13	25					A	122078450	G	A	122078450	2	1	305	1	0	0	0	0	0	0	0	1	2571	1045	37	2		2	CADPS2	7	122078450	Silent	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	14754510	122078450	37060213	450	14967											
ASB15	142685	broad.mit.edu	37	chr7	123256478	123256478	+	Frame_Shift_Del	DEL	A	A	-																															tgcaatggatgaagctgatgAaaaaggatggtttccattgc																										TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr7:123256478delA	ENST00000451558.1	+	8	742	c.221delA	c.(220-222)gaafs	p.E74fs	RP11-390E23.3_ENST00000422401.1_RNA|ASB15_ENST00000540573.1_Frame_Shift_Del_p.E74fs|ASB15_ENST00000275699.3_Frame_Shift_Del_p.E74fs|RP11-390E23.3_ENST00000440504.1_RNA|ASB15_ENST00000451215.1_Frame_Shift_Del_p.E74fs|ASB15_ENST00000434204.1_Frame_Shift_Del_p.E74fs|RP11-390E23.3_ENST00000418409.1_RNA			Q8WXK1	ASB15_HUMAN	ankyrin repeat and SOCS box containing 15	74					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)					breast(1)|kidney(1)|large_intestine(1)|lung(6)|skin(3)	12						GAAGCTGATGAAAAAGGATGG	0.353																																						ENST00000451558.1																			0				breast(1)|kidney(1)|large_intestine(1)|lung(6)|skin(3)	12						c.(220-222)gafs		ankyrin repeat and SOCS box containing 15							105	97	100					7																	123256478		2202	4300	6502	SO:0001589	frameshift_variant	142685				intracellular signal transduction			g.chr7:123256478delA	AF403033	CCDS34742.1	7q31.31	2013-01-10	2011-01-25		ENSG00000146809	ENSG00000146809		"Ankyrin repeat domain containing"	19767	protein-coding gene	gene with protein product			"ankyrin repeat and SOCS box-containing 15"			12076535	Standard	XM_005250149		Approved	FLJ43370	uc003vkw.1	Q8WXK1	OTTHUMG00000157114	ENST00000451558.1:c.221delA	7.37:g.123256478delA	ENSP00000397655:p.Glu74fs					RP11-390E23.3_ENST00000422401.1_RNA|RP11-390E23.3_ENST00000418409.1_RNA|ASB15_ENST00000451215.1_Frame_Shift_Del_p.E74fs|RP11-390E23.3_ENST00000440504.1_RNA|ASB15_ENST00000540573.1_Frame_Shift_Del_p.E74fs|ASB15_ENST00000275699.3_Frame_Shift_Del_p.E74fs|ASB15_ENST00000434204.1_Frame_Shift_Del_p.E74fs	p.E74fs			Q8WXK1	ASB15_HUMAN			8	742	+			74					Q3ZCP3|Q3ZCP5|Q68D37	Frame_Shift_Del	DEL	ENST00000451558.1	37	c.221delA	CCDS34742.1																																																																																				0.353	ASB15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347493.1			16	14						16	14	---	---	---	---	-	123256478	A	-	123256478	7	5	305	1	0	1	0	1	0	0	0	0	1019	246	9	0	231	0	ASB15	7	123256478	Frame_Shift_Del	DEL	A	TCGA-KK-A59V-01A-11D-A29Q-08	1178028	123256478	35882185	451	14968											
TSPAN33	340348	broad.mit.edu	37	chr7	128807691	128807691	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctacagctctacaaccagcaGcaccgggctgacccatggta	11	6	9	15	1	1	1	0	1	1	0	1	1	1	1	3	2	6	5	3	2	4	3			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr7:128807691G>A	ENST00000289407.4	+	8	937	c.828G>A	c.(826-828)caG>caA	p.Q276Q	Y_RNA_ENST00000363759.1_RNA|RP11-286H14.6_ENST00000498745.1_RNA	NM_178562.3	NP_848657.1	Q86UF1	TSN33_HUMAN	tetraspanin 33	276					establishment of protein localization to plasma membrane (GO:0090002)|protein maturation (GO:0051604)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tetraspanin-enriched microdomain (GO:0097197)	enzyme binding (GO:0019899)			NS(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	14						ACAACCAGCAGCACCGGGCTG	0.517																																						ENST00000289407.4																			0				NS(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	14						c.(826-828)caG>caA		tetraspanin 33							86	76	80					7																	128807691		2203	4300	6503	SO:0001819	synonymous_variant	340348					integral to membrane		g.chr7:128807691G>A		CCDS5810.1	7q32.3	2013-02-14			ENSG00000158457	ENSG00000158457		"Tetraspanins"	28743	protein-coding gene	gene with protein product		610120				16213355, 16242907	Standard	XM_006715960		Approved	MGC50844, Penumbra	uc003vop.2	Q86UF1	OTTHUMG00000158420	ENST00000289407.4:c.828G>A	7.37:g.128807691G>A							p.Q276Q	NM_178562.3	NP_848657.1	Q86UF1	TSN33_HUMAN			8	937	+			276						Silent	SNP	ENST00000289407.4	37	c.828G>A	CCDS5810.1																																																																																				0.517	TSPAN33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350983.1	NM_178562		11	22	0	0	0	1	0	11	22					A	128807691	G	A	128807691	2	1	305	1	0	0	0	0	0	0	0	1	16645	962	34	3		3	TSPAN33	7	128807691	Silent	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	5551213	128807691	30330972	452	14969											
AHCYL2	23382	broad.mit.edu	37	chr7	129064719	129064719	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacctttgatcactagggccGcctgctgaaccttagctgct	7	11	9	14	1	1	2	1	2	0	0	1	2	1	2	4	1	4	3	4	1	3	3			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr7:129064719G>A	ENST00000325006.3	+	14	1619	c.1565G>A	c.(1564-1566)cGc>cAc	p.R522H	AHCYL2_ENST00000490911.1_Missense_Mutation_p.R419H|AHCYL2_ENST00000446212.1_Missense_Mutation_p.R420H|AHCYL2_ENST00000531335.2_Missense_Mutation_p.R441H|AHCYL2_ENST00000474594.1_Missense_Mutation_p.R419H|AHCYL2_ENST00000446544.2_Missense_Mutation_p.R521H	NM_001130720.2|NM_015328.3	NP_001124192.1|NP_056143.1	Q96HN2	SAHH3_HUMAN	adenosylhomocysteinase-like 2	522					one-carbon metabolic process (GO:0006730)		adenosylhomocysteinase activity (GO:0004013)			breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	22						CACTAGGGCCGCCTGCTGAAC	0.493																																					Pancreas(160;1736 1964 29875 40941 45605)	ENST00000325006.3																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	22						c.(1564-1566)cGc>cAc		adenosylhomocysteinase-like 2							145	125	132					7																	129064719		2203	4300	6503	SO:0001583	missense	23382				one-carbon metabolic process		adenosylhomocysteinase activity	g.chr7:129064719G>A	AB020635	CCDS5812.1, CCDS47706.1, CCDS47707.1, CCDS47708.1, CCDS47707.2	7q32.1	2009-06-12	2009-06-12		ENSG00000158467	ENSG00000158467			22204	protein-coding gene	gene with protein product			"S-adenosylhomocysteine hydrolase-like 2"				Standard	NM_001130720		Approved	KIAA0828	uc011kov.2	Q96HN2	OTTHUMG00000157677	ENST00000325006.3:c.1565G>A	7.37:g.129064719G>A	ENSP00000315931:p.Arg522His					AHCYL2_ENST00000474594.1_Missense_Mutation_p.R419H|AHCYL2_ENST00000446212.1_Missense_Mutation_p.R420H|AHCYL2_ENST00000446544.2_Missense_Mutation_p.R521H|AHCYL2_ENST00000490911.1_Missense_Mutation_p.R419H|AHCYL2_ENST00000531335.2_Missense_Mutation_p.R441H	p.R522H	NM_001130720.2|NM_015328.3	NP_001124192.1|NP_056143.1	Q96HN2	SAHH3_HUMAN			14	1619	+			522					B4DIZ5|D9N155|O94917	Missense_Mutation	SNP	ENST00000325006.3	37	c.1565G>A	CCDS5812.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	23.9|23.9	4.464989|4.464989	0.84425|0.84425	.|.	.|.	ENSG00000158467|ENSG00000158467	ENST00000466924|ENST00000325006;ENST00000446544;ENST00000531335;ENST00000474594;ENST00000446212;ENST00000490911	.|T;T;T;T;T;T	.|0.81163	.|-1.46;-1.46;-1.44;-1.43;-1.43;-1.43	5.7|5.7	5.7|5.7	0.88788|0.88788	.|S-adenosyl-L-homocysteine hydrolase, NAD binding (1);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.85358|0.85358	0.5678|0.5678	M|M	0.93016|0.93016	3.37|3.37	0.80722|0.80722	D|D	1|1	.|B;B;P;B;P	.|0.37061	.|0.233;0.146;0.58;0.146;0.524	.|B;B;B;B;B	.|0.33042	.|0.102;0.07;0.157;0.07;0.097	D|D	0.88115|0.88115	0.2828|0.2828	5|10	.|0.87932	.|D	.|0	-10.4292|-10.4292	18.3949|18.3949	0.90495|0.90495	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|419;420;522;419;521	.|B4DIZ5;D7UEQ7;Q96HN2;D9N155;Q96HN2-2	.|.;.;SAHH3_HUMAN;.;.	T|H	429|522;521;441;419;420;419	.|ENSP00000315931:R522H;ENSP00000413639:R521H;ENSP00000431787:R441H;ENSP00000420459:R419H;ENSP00000405267:R420H;ENSP00000420801:R419H	.|ENSP00000315931:R522H	A|R	+|+	1|2	0|0	AHCYL2|AHCYL2	128851955|128851955	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.976000|0.976000	0.68499|0.68499	9.773000|9.773000	0.98989|0.98989	2.681000|2.681000	0.91329|0.91329	0.650000|0.650000	0.86243|0.86243	GCC|CGC		0.493	AHCYL2-012	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000354065.1			17	79	0	0	0	1	0	17	79					A	129064719	G	A	129064719	3	1	305	1	0	0	0	0	1	0	0	0	411	1087	38	1	1741	1	AHCYL2	7	129064719	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	257028	129064719	30073944	453	14970											
KLHDC10	23008	broad.mit.edu	37	chr7	129756485	129756485	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcacagatggctacatgcccCgggaattggcatctatgtca	10	9	11	11	1	2	1	1	0	1	1	2	2	2	2	2	3	2	3	2	3	3	3			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr7:129756485C>T	ENST00000335420.5	+	3	588	c.454C>T	c.(454-456)Cgg>Tgg	p.R152W	KLHDC10_ENST00000495724.1_3'UTR	NM_014997.3	NP_055812.1	Q6PID8	KLD10_HUMAN	kelch domain containing 10	152						cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.R152R(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|liver(2)|lung(10)|prostate(1)	17						CTACATGCCCCGGGAATTGGC	0.468																																						ENST00000335420.5																			1	Substitution - coding silent(1)	p.R152R(1)	lung(1)	breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|liver(2)|lung(10)|prostate(1)	17						c.(454-456)Cgg>Tgg		kelch domain containing 10							129	114	119					7																	129756485		2203	4300	6503	SO:0001583	missense	23008							g.chr7:129756485C>T		CCDS5815.1	7q32.2	2008-08-20			ENSG00000128607	ENSG00000128607			22194	protein-coding gene	gene with protein product	"scruin like at the midline homolog (Drosophila)"	615152					Standard	NM_014997		Approved	KIAA0265, slim	uc003vpj.2	Q6PID8	OTTHUMG00000157654	ENST00000335420.5:c.454C>T	7.37:g.129756485C>T	ENSP00000334140:p.Arg152Trp					KLHDC10_ENST00000495724.1_3'UTR	p.R152W	NM_014997.3	NP_055812.1	Q6PID8	KLD10_HUMAN			3	588	+			152					Q86Y99|Q92554	Missense_Mutation	SNP	ENST00000335420.5	37	c.454C>T	CCDS5815.1	.	.	.	.	.	.	.	.	.	.	C	23.1	4.381045	0.82792	.	.	ENSG00000128607	ENST00000335420;ENST00000463413;ENST00000468226	T;D;T	0.94576	-0.24;-3.46;-0.24	5.68	3.67	0.42095	Galactose oxidase, beta-propeller (1);	0.097596	0.64402	D	0.000002	D	0.93132	0.7813	L	0.29908	0.895	0.52501	D	0.999955	D;D	0.76494	0.987;0.999	B;D	0.63192	0.436;0.912	D	0.91042	0.4872	10	0.37606	T	0.19	-14.8784	7.6416	0.28296	0.3602:0.5197:0.1201:0.0	.	9;152	Q6PID8-2;Q6PID8	.;KLD10_HUMAN	W	152;123;9	ENSP00000334140:R152W;ENSP00000420083:R123W;ENSP00000420034:R9W	ENSP00000334140:R152W	R	+	1	2	KLHDC10	129543721	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	5.599000	0.67592	1.353000	0.45828	0.650000	0.86243	CGG		0.468	KLHDC10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349347.2			42	99	0	0	0	1	0	42	99					T	129756485	C	T	129756485	3	4	305	1	0	0	0	0	1	0	0	0	8355	643	23	2	464	2	KLHDC10	7	129756485	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	691766	129756485	29382178	454	14971											
HIPK2	28996	broad.mit.edu	37	chr7	139285281	139285281	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctggaagggtcacatgacCggtcaatagtgcaggctgct	9	9	14	9	1	2	1	2	1	0	0	2	2	2	2	1	4	3	4	1	4	3	1	rs374685190		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr7:139285281C>T	ENST00000406875.3	-	11	2411	c.2317G>A	c.(2317-2319)Ggt>Agt	p.G773S	HIPK2_ENST00000428878.2_Missense_Mutation_p.G746S|HIPK2_ENST00000342645.6_Missense_Mutation_p.G773S	NM_022740.4	NP_073577.3	Q9H2X6	HIPK2_HUMAN	homeodomain interacting protein kinase 2	773	Interaction with POU4F1. {ECO:0000250}.|Interaction with SKI and SMAD1.				adult walking behavior (GO:0007628)|anterior/posterior pattern specification (GO:0009952)|cellular response to hypoxia (GO:0071456)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|erythrocyte differentiation (GO:0030218)|eye development (GO:0001654)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|iris morphogenesis (GO:0061072)|lens induction in camera-type eye (GO:0060235)|modulation by virus of host morphology or physiology (GO:0019048)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron differentiation (GO:0030182)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|PML body organization (GO:0030578)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA binding (GO:0043388)|positive regulation of JNK cascade (GO:0046330)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|protein phosphorylation (GO:0006468)|regulation of cell cycle (GO:0051726)|retina layer formation (GO:0010842)|SMAD protein signal transduction (GO:0060395)|smoothened signaling pathway (GO:0007224)|transforming growth factor beta receptor signaling pathway (GO:0007179)|voluntary musculoskeletal movement (GO:0050882)	cytoplasm (GO:0005737)|nuclear body (GO:0016604)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II transcription coactivator activity (GO:0001105)|SMAD binding (GO:0046332)|transcription corepressor activity (GO:0003714)|virion binding (GO:0046790)			breast(4)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Melanoma(164;0.205)					GTCACATGACCGGTCAATAGT	0.552																																						ENST00000406875.3																			0				breast(4)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						c.(2317-2319)Ggt>Agt		homeodomain interacting protein kinase 2		C	SER/GLY,SER/GLY	1,4273		0,1,2136	109	114	112		1186,1267	4.8	1	7		112	0,8482		0,0,4241	no	missense,missense	HIPK2	NM_001113239.2,NM_022740.4	56,56	0,1,6377	TT,TC,CC		0.0,0.0234,0.0078	benign,benign	396/822,423/849	139285281	1,12755	2137	4241	6378	SO:0001583	missense	28996				apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|negative regulation of BMP signaling pathway|positive regulation of JNK cascade|positive regulation of transforming growth factor beta receptor signaling pathway|SMAD protein signal transduction|transcription, DNA-dependent|virus-host interaction	centrosome|nuclear membrane|PML body	ATP binding|protein serine/threonine kinase activity|SMAD binding|transcription corepressor activity|virion binding	g.chr7:139285281C>T	AF208291	CCDS75666.1, CCDS75667.1	7q32-q34	2004-01-29	2001-11-29		ENSG00000064393	ENSG00000064393			14402	protein-coding gene	gene with protein product		606868	"homeodomain-interacting protein kinase 2"			11120354	Standard	NM_001113239		Approved		uc003vvf.4	Q9H2X6	OTTHUMG00000157704	ENST00000406875.3:c.2317G>A	7.37:g.139285281C>T	ENSP00000385571:p.Gly773Ser					HIPK2_ENST00000342645.6_Missense_Mutation_p.G773S|HIPK2_ENST00000428878.2_Missense_Mutation_p.G746S	p.G773S	NM_022740.4	NP_073577.3	Q9H2X6	HIPK2_HUMAN			11	2411	-	Melanoma(164;0.205)		773			Interaction with POU4F1 (By similarity).|Interaction with SKI and SMAD1.		Q75MR7|Q8WWI4|Q9H2Y1	Missense_Mutation	SNP	ENST00000406875.3	37	c.2317G>A		.	.	.	.	.	.	.	.	.	.	C	14.56	2.572097	0.45798	2.34E-4	0.0	ENSG00000064393	ENST00000406875;ENST00000428878;ENST00000342645	T;T;T	0.21932	1.98;1.98;1.98	4.84	4.84	0.62591	.	.	.	.	.	T	0.13157	0.0319	.	.	.	0.41129	D	0.985878	B;B	0.13594	0.002;0.008	B;B	0.15052	0.003;0.012	T	0.11421	-1.0588	8	0.20519	T	0.43	.	9.5373	0.39231	0.0:0.8727:0.0:0.1273	.	773;746	Q9H2X6;Q9H2X6-3	HIPK2_HUMAN;.	S	773;746;773	ENSP00000385571:G773S;ENSP00000413724:G746S;ENSP00000343108:G773S	ENSP00000343108:G773S	G	-	1	0	HIPK2	138935821	0.967000	0.33354	0.996000	0.52242	0.985000	0.73830	2.163000	0.42377	2.675000	0.91044	0.650000	0.86243	GGT		0.552	HIPK2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000349430.3	NM_022740		7	99	0	0	0	1	0	7	99					T	139285281	C	T	139285281	3	4	305	1	0	0	0	0	1	0	0	0	7117	652	23	2	1299	2	HIPK2	7	139285281	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	9528796	139285281	19853382	455	14972											
HIPK2	28996	broad.mit.edu	37	chr7	139299042	139299042	+	Frame_Shift_Del	DEL	G	G	-																															tcaatcttaccttggaagccGgggggacacacgatgagagc																										TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr7:139299042delG	ENST00000406875.3	-	8	2074	c.1980delC	c.(1978-1980)cccfs	p.P660fs	HIPK2_ENST00000428878.2_Frame_Shift_Del_p.P633fs|HIPK2_ENST00000342645.6_Frame_Shift_Del_p.P660fs	NM_022740.4	NP_073577.3	Q9H2X6	HIPK2_HUMAN	homeodomain interacting protein kinase 2	660	Interaction with SKI and SMAD1.				adult walking behavior (GO:0007628)|anterior/posterior pattern specification (GO:0009952)|cellular response to hypoxia (GO:0071456)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|erythrocyte differentiation (GO:0030218)|eye development (GO:0001654)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|iris morphogenesis (GO:0061072)|lens induction in camera-type eye (GO:0060235)|modulation by virus of host morphology or physiology (GO:0019048)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron differentiation (GO:0030182)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|PML body organization (GO:0030578)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA binding (GO:0043388)|positive regulation of JNK cascade (GO:0046330)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|protein phosphorylation (GO:0006468)|regulation of cell cycle (GO:0051726)|retina layer formation (GO:0010842)|SMAD protein signal transduction (GO:0060395)|smoothened signaling pathway (GO:0007224)|transforming growth factor beta receptor signaling pathway (GO:0007179)|voluntary musculoskeletal movement (GO:0050882)	cytoplasm (GO:0005737)|nuclear body (GO:0016604)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II transcription coactivator activity (GO:0001105)|SMAD binding (GO:0046332)|transcription corepressor activity (GO:0003714)|virion binding (GO:0046790)			breast(4)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Melanoma(164;0.205)					CTTGGAAGCCGGGGGGACACA	0.602																																						ENST00000406875.3																			0				breast(4)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						c.(1978-1980)ccfs		homeodomain interacting protein kinase 2							24	29	27					7																	139299042		1958	4146	6104	SO:0001589	frameshift_variant	28996				apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|negative regulation of BMP signaling pathway|positive regulation of JNK cascade|positive regulation of transforming growth factor beta receptor signaling pathway|SMAD protein signal transduction|transcription, DNA-dependent|virus-host interaction	centrosome|nuclear membrane|PML body	ATP binding|protein serine/threonine kinase activity|SMAD binding|transcription corepressor activity|virion binding	g.chr7:139299042delG	AF208291	CCDS75666.1, CCDS75667.1	7q32-q34	2004-01-29	2001-11-29		ENSG00000064393	ENSG00000064393			14402	protein-coding gene	gene with protein product		606868	"homeodomain-interacting protein kinase 2"			11120354	Standard	NM_001113239		Approved		uc003vvf.4	Q9H2X6	OTTHUMG00000157704	ENST00000406875.3:c.1980delC	7.37:g.139299042delG	ENSP00000385571:p.Pro660fs					HIPK2_ENST00000342645.6_Frame_Shift_Del_p.P660fs|HIPK2_ENST00000428878.2_Frame_Shift_Del_p.P633fs	p.P660fs	NM_022740.4	NP_073577.3	Q9H2X6	HIPK2_HUMAN			8	2074	-	Melanoma(164;0.205)		660			Interaction with SKI and SMAD1.		Q75MR7|Q8WWI4|Q9H2Y1	Frame_Shift_Del	DEL	ENST00000406875.3	37	c.1980delC																																																																																					0.602	HIPK2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000349430.3	NM_022740		10	33						10	33	---	---	---	---	-	139299042	G	-	139299042	7	5	305	1	0	1	0	1	0	0	0	0	7117	1103	39	0	1648	0	HIPK2	7	139299042	Frame_Shift_Del	DEL	G	TCGA-KK-A59V-01A-11D-A29Q-08	13761	139299042	19839621	456	14973											
BRAF	673	broad.mit.edu	37	chr7	140482934	140482934	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aggtaatgaggcagggggggTagcagacaaacctgtggttg	11	7	18	5	0	0	2	0	1	0	1	0	2	0	2	1	6	2	5	1	6	3	3			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr7:140482934T>C	ENST00000288602.6	-	10	1261	c.1201A>G	c.(1201-1203)Acc>Gcc	p.T401A		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	401					activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)		SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	GCAGGGGGGGTAGCAGACAAA	0.438		61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	ENST00000288602.6		61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	0				NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1201-1203)Acc>Gcc		v-raf murine sarcoma viral oncogene homolog B	Sorafenib(DB00398)						56	54	55					7																	140482934		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140482934T>C	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1201A>G	7.37:g.140482934T>C	ENSP00000288602:p.Thr401Ala						p.T401A	NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN			10	1261	-	Melanoma(164;0.00956)		401					A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1201A>G	CCDS5863.1	.	.	.	.	.	.	.	.	.	.	T	14.80	2.642296	0.47153	.	.	ENSG00000157764	ENST00000288602	T	0.75938	-0.98	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	T	0.66489	0.2794	L	0.44542	1.39	0.80722	D	1	B	0.21381	0.055	B	0.12156	0.007	T	0.61987	-0.6949	10	0.14656	T	0.56	.	16.1846	0.81942	0.0:0.0:0.0:1.0	.	401	P15056	BRAF_HUMAN	A	401	ENSP00000288602:T401A	ENSP00000288602:T401A	T	-	1	0	BRAF	140129403	1.000000	0.71417	0.996000	0.52242	0.978000	0.69477	7.499000	0.81566	2.229000	0.72834	0.533000	0.62120	ACC		0.438	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		14	26	0	0	0	1	0	14	26					C	140482934	T	C	140482934	3	2	305	1	0	0	0	0	1	0	0	0	1496	1638	57	4	1135	4	BRAF	7	140482934	Missense_Mutation	SNP	T	TCGA-KK-A59V-01A-11D-A29Q-08	1183892	140482934	18655729	457	14974											
PDIA4	9601	broad.mit.edu	37	chr7	148701135	148701135	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttggccaggctgttgtacacGggctctagctgcttgcagtg	5	12	14	10	1	1	0	0	0	1	0	1	0	1	0	1	3	4	7	1	3	2	5	rs145077850	byFrequency	TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr7:148701135G>A	ENST00000286091.4	-	10	1921	c.1689C>T	c.(1687-1689)ccC>ccT	p.P563P		NM_004911.4	NP_004902.1	P13667	PDIA4_HUMAN	protein disulfide isomerase family A, member 4	563	Thioredoxin 3. {ECO:0000255|PROSITE- ProRule:PRU00691}.				cell redox homeostasis (GO:0045454)|chaperone-mediated protein folding (GO:0061077)|protein folding (GO:0006457)|protein secretion (GO:0009306)|response to endoplasmic reticulum stress (GO:0034976)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)	poly(A) RNA binding (GO:0044822)|protein disulfide isomerase activity (GO:0003756)			large_intestine(6)|lung(15)|ovary(2)|prostate(1)	24	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00385)			TGTTGTACACGGGCTCTAGCT	0.582																																						ENST00000286091.4																			0				large_intestine(6)|lung(15)|ovary(2)|prostate(1)	24						c.(1687-1689)ccC>ccT		protein disulfide isomerase family A, member 4		G		3,4403	6.2+/-15.9	0,3,2200	131	125	127		1689	-6.6	0.3	7	dbSNP_134	127	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	PDIA4	NM_004911.4		0,4,6499	AA,AG,GG		0.0116,0.0681,0.0308		563/646	148701135	4,13002	2203	4300	6503	SO:0001819	synonymous_variant	9601				cell redox homeostasis|glycerol ether metabolic process|protein secretion	endoplasmic reticulum lumen|melanosome	electron carrier activity|protein binding|protein disulfide isomerase activity|protein disulfide oxidoreductase activity	g.chr7:148701135G>A	BC001928	CCDS5893.1	7q35	2009-11-20	2005-06-29		ENSG00000155660	ENSG00000155660	5.3.4.1	"Protein disulfide isomerases"	30167	protein-coding gene	gene with protein product			"protein disulfide isomerase-associated 4"			2549034, 2002068	Standard	NM_004911		Approved	ERP70, ERP72	uc003wff.2	P13667	OTTHUMG00000150248	ENST00000286091.4:c.1689C>T	7.37:g.148701135G>A							p.P563P	NM_004911.4	NP_004902.1	P13667	PDIA4_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00385)		10	1921	-	Melanoma(164;0.15)		563			Thioredoxin 3.		A8K4K6|Q549T6	Silent	SNP	ENST00000286091.4	37	c.1689C>T	CCDS5893.1																																																																																				0.582	PDIA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317077.1	NM_004911		35	98	0	0	0	1	0	35	98					A	148701135	G	A	148701135	2	1	305	1	0	0	0	0	0	0	0	1	11670	1103	39	2		2	PDIA4	7	148701135	Silent	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	8218201	148701135	10437528	458	14975											
SSPO	23145	broad.mit.edu	37	chr7	149474811	149474811	+	RNA	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctggtcgggcttccactacCgcacctttgatggccgccac	5	9	10	17	3	0	1	0	1	0	0	2	1	1	1	6	3	1	2	6	3	1	3	rs566175911		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr7:149474811C>T	ENST00000378016.2	+	0	610							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion (GO:0007155)	extracellular space (GO:0005615)	peptidase inhibitor activity (GO:0030414)					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CTTCCACTACCGCACCTTTGA	0.687													C|||	1	0.000199681	8e-04	0	5008	,	,		15694	0		0	False		,,,				2504	0					ENST00000378016.2																			0													SCO-spondin							16	21	20					7																	149474811		2050	4179	6229			23145				cell adhesion	extracellular space	peptidase inhibitor activity	g.chr7:149474811C>T	AK093431		7q36.1	2013-08-07	2013-08-06		ENSG00000197558	ENSG00000197558			21998	protein-coding gene	gene with protein product	"subcommissural organ spondin", "SCO protein, thrombospondin domain containing"		"SCO-spondin homolog (Bos taurus)"			8743952, 11008217	Standard	NM_198455		Approved	SCO-spondin, KIAA0543, FLJ36112	uc010lpk.3	A2VEC9	OTTHUMG00000157884		7.37:g.149474811C>T										A2VEC9	SSPO_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00625)		0	610	+	Melanoma(164;0.165)|Ovarian(565;0.177)							Q76B61	RNA	SNP	ENST00000378016.2	37																																																																																						0.687	SSPO-202	KNOWN	basic	processed_transcript	processed_transcript				7	25	0	0	0	1	0	7	25					T	149474811	C	T	149474811	1	4	305	0	1	0	0	0	0	0	0	0	15188	652	23	2		2	SSPO	7	149474811	RNA	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	773676	149474811	9663852	459	14976											
SSPO	23145	broad.mit.edu	37	chr7	149485020	149485020	+	RNA	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgcagatgagtgtgcccggCatgggcaccacgtgcgctgg	7	7	16	11	3	0	2	0	1	0	1	0	2	0	2	2	3	3	4	2	3	0	0			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr7:149485020C>T	ENST00000378016.2	+	0	3775							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion (GO:0007155)	extracellular space (GO:0005615)	peptidase inhibitor activity (GO:0030414)					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			GTGTGCCCGGCATGGGCACCA	0.637																																						ENST00000378016.2																			0													SCO-spondin							13	18	16					7																	149485020		2062	4192	6254			23145				cell adhesion	extracellular space	peptidase inhibitor activity	g.chr7:149485020C>T	AK093431		7q36.1	2013-08-07	2013-08-06		ENSG00000197558	ENSG00000197558			21998	protein-coding gene	gene with protein product	"subcommissural organ spondin", "SCO protein, thrombospondin domain containing"		"SCO-spondin homolog (Bos taurus)"			8743952, 11008217	Standard	NM_198455		Approved	SCO-spondin, KIAA0543, FLJ36112	uc010lpk.3	A2VEC9	OTTHUMG00000157884		7.37:g.149485020C>T										A2VEC9	SSPO_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00625)		0	3775	+	Melanoma(164;0.165)|Ovarian(565;0.177)							Q76B61	RNA	SNP	ENST00000378016.2	37																																																																																						0.637	SSPO-202	KNOWN	basic	processed_transcript	processed_transcript				4	7	0	0	0	1	0	4	7					T	149485020	C	T	149485020	1	4	305	0	1	0	0	0	0	0	0	0	15188	710	25	3		3	SSPO	7	149485020	RNA	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	10209	149485020	9653643	460	14977											
SSPO	23145	broad.mit.edu	37	chr7	149493460	149493460	+	RNA	DEL	T	T	-																															ccgcatcctctgctggcagcTtttccccagaaactgggatg																										TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr7:149493460delT	ENST00000378016.2	+	0	6536							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion (GO:0007155)	extracellular space (GO:0005615)	peptidase inhibitor activity (GO:0030414)					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			TGCTGGCAGCTTTTCCCCAGA	0.572																																						ENST00000378016.2																			0													SCO-spondin							92	104	100					7																	149493460		2104	4213	6317			23145				cell adhesion	extracellular space	peptidase inhibitor activity	g.chr7:149493460delT	AK093431		7q36.1	2013-08-07	2013-08-06		ENSG00000197558	ENSG00000197558			21998	protein-coding gene	gene with protein product	"subcommissural organ spondin", "SCO protein, thrombospondin domain containing"		"SCO-spondin homolog (Bos taurus)"			8743952, 11008217	Standard	NM_198455		Approved	SCO-spondin, KIAA0543, FLJ36112	uc010lpk.3	A2VEC9	OTTHUMG00000157884		7.37:g.149493460delT										A2VEC9	SSPO_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00625)		0	6536	+	Melanoma(164;0.165)|Ovarian(565;0.177)							Q76B61	RNA	DEL	ENST00000378016.2	37																																																																																						0.572	SSPO-202	KNOWN	basic	processed_transcript	processed_transcript				12	128						12	128	---	---	---	---	-	149493460	T	-	149493460	6	5	305	0	1	1	0	1	0	0	0	0	15188	1623	56	0		0	SSPO	7	149493460	RNA	DEL	T	TCGA-KK-A59V-01A-11D-A29Q-08	8440	149493460	9645203	461	14978											
SSPO	23145	broad.mit.edu	37	chr7	149511934	149511934	+	RNA	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggggcagtcccaccggagccGggcgtgcagccggcccccca	5	2	16	18	4	0	0	0	0	0	0	1	1	1	1	7	5	3	2	7	5	0	0			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr7:149511934G>A	ENST00000378016.2	+	0	10484							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion (GO:0007155)	extracellular space (GO:0005615)	peptidase inhibitor activity (GO:0030414)					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CACCGGAGCCGGGCGTGCAGC	0.677																																						ENST00000378016.2																			0													SCO-spondin							7	9	8					7																	149511934		2019	4112	6131			23145				cell adhesion	extracellular space	peptidase inhibitor activity	g.chr7:149511934G>A	AK093431		7q36.1	2013-08-07	2013-08-06		ENSG00000197558	ENSG00000197558			21998	protein-coding gene	gene with protein product	"subcommissural organ spondin", "SCO protein, thrombospondin domain containing"		"SCO-spondin homolog (Bos taurus)"			8743952, 11008217	Standard	NM_198455		Approved	SCO-spondin, KIAA0543, FLJ36112	uc010lpk.3	A2VEC9	OTTHUMG00000157884		7.37:g.149511934G>A										A2VEC9	SSPO_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00625)		0	10484	+	Melanoma(164;0.165)|Ovarian(565;0.177)							Q76B61	RNA	SNP	ENST00000378016.2	37																																																																																						0.677	SSPO-202	KNOWN	basic	processed_transcript	processed_transcript				4	1	0	0	0	1	0	4	1					A	149511934	G	A	149511934	1	1	305	0	1	0	0	0	0	0	0	0	15188	1116	39	2		2	SSPO	7	149511934	RNA	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	18474	149511934	9626729	462	14979											
NOS3	4846	broad.mit.edu	37	chr7	150707211	150707211	+	Frame_Shift_Del	DEL	C	C	-																															cactatccccaggtggccctCcccccggctgggtgcgggac																										TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr7:150707211delC	ENST00000297494.3	+	21	2878	c.2521delC	c.(2521-2523)cccfs	p.P842fs	NOS3_ENST00000461406.1_Frame_Shift_Del_p.P636fs|ATG9B_ENST00000494791.1_5'Flank	NM_000603.4	NP_000594.2	P60323	NANO3_HUMAN	nitric oxide synthase 3 (endothelial cell)	0					germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic signaling pathway (GO:2001234)|oogenesis (GO:0048477)|regulation of cell cycle (GO:0051726)|regulation of translation (GO:0006417)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytoplasmic stress granule (GO:0010494)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			NS(3)|breast(3)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(11)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	50	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		AGGTGGCCCTCCCCCCGGCTG	0.652																																						ENST00000297494.3																			0				NS(3)|breast(3)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(11)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						c.(2521-2523)ccfs		nitric oxide synthase 3 (endothelial cell)	L-Arginine(DB00125)|L-Citrulline(DB00155)|Rosuvastatin(DB01098)|Tetrahydrobiopterin(DB00360)																																			SO:0001589	frameshift_variant	4846				anti-apoptosis|arginine catabolic process|blood vessel remodeling|endothelial cell migration|mitochondrion organization|negative regulation of muscle hyperplasia|negative regulation of platelet activation|nitric oxide biosynthetic process|platelet activation|positive regulation of angiogenesis|positive regulation of guanylate cyclase activity|positive regulation of vasodilation|regulation of blood vessel size|regulation of nitric-oxide synthase activity|regulation of systemic arterial blood pressure by endothelin|response to fluid shear stress|response to heat|smooth muscle hyperplasia	caveola|cytoskeleton|cytosol|Golgi membrane	actin monomer binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding	g.chr7:150707211delC		CCDS5912.1, CCDS55182.1, CCDS55183.1	7q36	2007-02-15			ENSG00000164867	ENSG00000164867	1.14.13.39		7876	protein-coding gene	gene with protein product	"endothelial nitric oxide synthase"	163729				1379542	Standard	NM_000603		Approved	ECNOS, eNOS	uc003wif.3	P29474	OTTHUMG00000158343	ENST00000297494.3:c.2521delC	7.37:g.150707211delC	ENSP00000297494:p.Pro842fs					NOS3_ENST00000461406.1_Frame_Shift_Del_p.P636fs	p.P842fs	NM_000603.4	NP_000594.2	P29474	NOS3_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	21	2878	+	all_neural(206;0.219)		842			FAD-binding FR-type.		Q495E5	Frame_Shift_Del	DEL	ENST00000297494.3	37	c.2521delC	CCDS5912.1																																																																																				0.652	NOS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350750.2	NM_000603		9	83						9	83	---	---	---	---	-	150707211	C	-	150707211	7	5	305	1	0	1	0	1	0	0	0	0	10544	855	30	0	2881	0	NOS3	7	150707211	Frame_Shift_Del	DEL	C	TCGA-KK-A59V-01A-11D-A29Q-08	1195277	150707211	8431452	463	14980											
AGAP3	116988	broad.mit.edu	37	chr7	150839547	150839547	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgccctgatgtgcattgagtGctcaggcatccaccgacacc	8	9	10	14	1	1	2	1	2	0	0	2	3	2	2	4	1	3	3	4	1	0	1			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr7:150839547G>A	ENST00000463381.1	+	14	1602	c.1106G>A	c.(1105-1107)tGc>tAc	p.C369Y	AGAP3_ENST00000397238.2_Missense_Mutation_p.C700Y	NM_001281300.1	NP_001268229.1	Q96P47	AGAP3_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 3	664	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.|Small GTPase-like.				cellular response to reactive oxygen species (GO:0034614)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein import into nucleus, translocation (GO:0000060)|regulation of ARF GTPase activity (GO:0032312)|small GTPase mediated signal transduction (GO:0007264)	cell periphery (GO:0071944)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ARF GTPase activator activity (GO:0008060)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|zinc ion binding (GO:0008270)			central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|liver(2)|lung(9)|ovary(2)|prostate(3)|urinary_tract(1)	28						TGCATTGAGTGCTCAGGCATC	0.627																																						ENST00000397238.2																			0				central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|liver(2)|lung(9)|ovary(2)|prostate(3)|urinary_tract(1)	28						c.(2098-2100)tGc>tAc		ArfGAP with GTPase domain, ankyrin repeat and PH domain 3							43	50	48					7																	150839547		2153	4274	6427	SO:0001583	missense	116988				regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytoplasm|membrane	ARF GTPase activator activity|GTP binding|GTPase activity|zinc ion binding	g.chr7:150839547G>A	AF413079	CCDS43681.1, CCDS55185.1, CCDS64802.1	7q36.1	2013-01-11	2008-09-22	2008-09-22	ENSG00000133612	ENSG00000133612		"ADP-ribosylation factor GTPase activating proteins", "Pleckstrin homology (PH) domain containing", "Ankyrin repeat domain containing"	16923	protein-coding gene	gene with protein product			"centaurin, gamma 3"	CENTG3			Standard	NM_001042535		Approved		uc003wjg.1	Q96P47	OTTHUMG00000158724	ENST00000463381.1:c.1106G>A	7.37:g.150839547G>A	ENSP00000418016:p.Cys369Tyr					AGAP3_ENST00000463381.1_Missense_Mutation_p.C369Y	p.C700Y	NM_031946.4	NP_114152.3	Q96P47	AGAP3_HUMAN			16	2099	+			664			Arf-GAP.		B3KNZ8|E9PAL8|Q59EN0|Q96RK3	Missense_Mutation	SNP	ENST00000463381.1	37	c.2099G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	24.1|24.1	4.495896|4.495896	0.85069|0.85069	.|.	.|.	ENSG00000133612|ENSG00000133612	ENST00000461065|ENST00000463381;ENST00000397232;ENST00000397238;ENST00000335355	.|D;D	.|0.96011	.|-3.88;-3.88	5.17|5.17	5.17|5.17	0.71159|0.71159	.|.	.|0.049989	.|0.85682	.|D	.|0.000000	D|D	0.99055|0.99055	0.9676|0.9676	H|H	0.99919|0.99919	4.95|4.95	0.80722|0.80722	D|D	1|1	.|D;D;D;D	.|0.89917	.|0.999;1.0;1.0;0.997	.|D;D;D;D	.|0.97110	.|0.999;0.999;1.0;0.996	D|D	0.98802|0.98802	1.0740|1.0740	5|10	.|0.87932	.|D	.|0	.|.	17.6819|17.6819	0.88246|0.88246	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|664;199;700;369	.|Q96P47;E7ETI2;Q96P47-4;B3KNZ8	.|AGAP3_HUMAN;.;.;.	T|Y	193|369;199;700;664	.|ENSP00000418016:C369Y;ENSP00000380413:C700Y	.|ENSP00000334157:C664Y	A|C	+|+	1|2	0|0	AGAP3|AGAP3	150470480|150470480	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	9.728000|9.728000	0.98792|0.98792	2.403000|2.403000	0.81681|0.81681	0.655000|0.655000	0.94253|0.94253	GCT|TGC		0.627	AGAP3-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000351909.2	NM_031946		20	37	0	0	0	1	0	20	37					A	150839547	G	A	150839547	3	1	305	1	0	0	0	0	1	0	0	0	369	1319	46	3	2228	3	AGAP3	7	150839547	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	132336	150839547	8299116	464	14981											
AGAP3	116988	broad.mit.edu	37	chr7	150839616	150839616	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttgacctcgatgactggcCgcctgagctgctggctgtca	5	10	12	14	2	1	3	1	3	0	0	2	4	1	3	4	2	2	3	4	2	0	1	rs368016856		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr7:150839616C>T	ENST00000463381.1	+	14	1671	c.1175C>T	c.(1174-1176)cCg>cTg	p.P392L	AGAP3_ENST00000397238.2_Missense_Mutation_p.P723L	NM_001281300.1	NP_001268229.1	Q96P47	AGAP3_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 3	687	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				cellular response to reactive oxygen species (GO:0034614)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein import into nucleus, translocation (GO:0000060)|regulation of ARF GTPase activity (GO:0032312)|small GTPase mediated signal transduction (GO:0007264)	cell periphery (GO:0071944)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ARF GTPase activator activity (GO:0008060)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|zinc ion binding (GO:0008270)			central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|liver(2)|lung(9)|ovary(2)|prostate(3)|urinary_tract(1)	28						GATGACTGGCCGCCTGAGCTG	0.652													C|||	1	0.000199681	0	0	5008	,	,		17839	0.001		0	False		,,,				2504	0					ENST00000397238.2																			0				central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|liver(2)|lung(9)|ovary(2)|prostate(3)|urinary_tract(1)	28						c.(2167-2169)cCg>cTg		ArfGAP with GTPase domain, ankyrin repeat and PH domain 3		C	LEU/PRO	0,4168		0,0,2084	48	54	52		2168	5.4	1	7		52	1,8449		0,1,4224	no	missense	AGAP3	NM_031946.4	98	0,1,6308	TT,TC,CC		0.0118,0.0,0.0079	probably-damaging	723/912	150839616	1,12617	2084	4225	6309	SO:0001583	missense	116988				regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytoplasm|membrane	ARF GTPase activator activity|GTP binding|GTPase activity|zinc ion binding	g.chr7:150839616C>T	AF413079	CCDS43681.1, CCDS55185.1, CCDS64802.1	7q36.1	2013-01-11	2008-09-22	2008-09-22	ENSG00000133612	ENSG00000133612		"ADP-ribosylation factor GTPase activating proteins", "Pleckstrin homology (PH) domain containing", "Ankyrin repeat domain containing"	16923	protein-coding gene	gene with protein product			"centaurin, gamma 3"	CENTG3			Standard	NM_001042535		Approved		uc003wjg.1	Q96P47	OTTHUMG00000158724	ENST00000463381.1:c.1175C>T	7.37:g.150839616C>T	ENSP00000418016:p.Pro392Leu					AGAP3_ENST00000463381.1_Missense_Mutation_p.P392L	p.P723L	NM_031946.4	NP_114152.3	Q96P47	AGAP3_HUMAN			16	2168	+			687			Arf-GAP.		B3KNZ8|E9PAL8|Q59EN0|Q96RK3	Missense_Mutation	SNP	ENST00000463381.1	37	c.2168C>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.41|18.41	3.618813|3.618813	0.66787|0.66787	0.0|0.0	1.18E-4|1.18E-4	ENSG00000133612|ENSG00000133612	ENST00000463381;ENST00000397232;ENST00000397238;ENST00000335355|ENST00000461065	T;T|.	0.41758|.	0.99;0.99|.	5.37|5.37	5.37|5.37	0.77165|0.77165	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.76442|0.76442	0.3988|0.3988	M|M	0.74258|0.74258	2.255|2.255	0.80722|0.80722	D|D	1|1	D;D;D;D|.	0.89917|.	1.0;1.0;0.995;1.0|.	D;D;D;D|.	0.97110|.	1.0;0.98;0.925;0.999|.	T|T	0.76132|0.76132	-0.3071|-0.3071	10|5	0.87932|.	D|.	0|.	.|.	18.0928|18.0928	0.89479|0.89479	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	687;222;723;392|.	Q96P47;E7ETI2;Q96P47-4;B3KNZ8|.	AGAP3_HUMAN;.;.;.|.	L|C	392;222;723;687|216	ENSP00000418016:P392L;ENSP00000380413:P723L|.	ENSP00000334157:P687L|.	P|R	+|+	2|1	0|0	AGAP3|AGAP3	150470549|150470549	1.000000|1.000000	0.71417|0.71417	0.954000|0.954000	0.39281|0.39281	0.152000|0.152000	0.21847|0.21847	7.690000|7.690000	0.84178|0.84178	2.515000|2.515000	0.84797|0.84797	0.655000|0.655000	0.94253|0.94253	CCG|CGC		0.652	AGAP3-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000351909.2	NM_031946		22	67	0	0	0	1	0	22	67					T	150839616	C	T	150839616	3	4	305	1	0	0	0	0	1	0	0	0	369	652	23	2	2297	2	AGAP3	7	150839616	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	69	150839616	8299047	465	14982											
MLL3	58508	broad.mit.edu	37	chr7	151860463	151860463	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gttctcgtaaacgttccttaCgttcccgttcttgaaaactt	8	16	6	11	4	2	1	0	1	2	0	5	1	4	1	2	0	3	5	2	0	5	8			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr7:151860463C>T	ENST00000262189.6	-	43	10417	c.10199G>A	c.(10198-10200)cGt>cAt	p.R3400H	KMT2C_ENST00000355193.2_Missense_Mutation_p.R3400H	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	3400	Gln-rich.				histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										ACGTTCCTTACGTTCCCGTTC	0.468																																						ENST00000355193.2																			0											c.(10198-10200)cGt>cAt		lysine (K)-specific methyltransferase 2C							207	187	194					7																	151860463		2203	4300	6503	SO:0001583	missense	58508							g.chr7:151860463C>T	AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	13726	protein-coding gene	gene with protein product		606833	"myeloid/lymphoid or mixed-lineage leukemia 3"	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.10199G>A	7.37:g.151860463C>T	ENSP00000262189:p.Arg3400His					KMT2C_ENST00000262189.6_Missense_Mutation_p.R3400H	p.R3400H							43	10417	-								Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Missense_Mutation	SNP	ENST00000262189.6	37	c.10199G>A	CCDS5931.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.058455	0.76074	.	.	ENSG00000055609	ENST00000262189;ENST00000355193	D;D	0.84660	-1.88;-1.87	5.28	5.28	0.74379	.	0.000000	0.41294	D	0.000907	D	0.91580	0.7340	M	0.62723	1.935	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.995;0.996;0.999	D	0.92192	0.5760	10	0.72032	D	0.01	.	18.9329	0.92574	0.0:1.0:0.0:0.0	.	3400;2461;3400	Q8NEZ4;Q8NEZ4-2;Q8NEZ4-3	MLL3_HUMAN;.;.	H	3400	ENSP00000262189:R3400H;ENSP00000347325:R3400H	ENSP00000262189:R3400H	R	-	2	0	MLL3	151491396	1.000000	0.71417	0.969000	0.41365	0.994000	0.84299	7.814000	0.86154	2.465000	0.83290	0.655000	0.94253	CGT		0.468	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3			5	243	0	0	0	1	0	5	243					T	151860463	C	T	151860463	3	4	305	1	0	0	0	0	1	0	0	0	9622	536	19	1	4604	1	MLL3	7	151860463	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	1020847	151860463	7278200	466	14983											
SHH	6469	broad.mit.edu	37	chr7	155595716	155595716	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggtggcccccgcacccggagCgtcggcagcacctggagcgg	5	3	17	16	5	0	0	0	0	0	0	1	2	0	2	4	6	3	3	4	6	0	0			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr7:155595716C>T	ENST00000297261.2	-	3	1417	c.1267G>A	c.(1267-1269)Gct>Act	p.A423T		NM_000193.2	NP_000184.1	Q15465	SHH_HUMAN	sonic hedgehog	423					androgen metabolic process (GO:0008209)|apoptotic signaling pathway (GO:0097190)|artery development (GO:0060840)|axon guidance (GO:0007411)|Bergmann glial cell differentiation (GO:0060020)|blood coagulation (GO:0007596)|branching involved in salivary gland morphogenesis (GO:0060445)|branching involved in ureteric bud morphogenesis (GO:0001658)|branching morphogenesis of an epithelial tube (GO:0048754)|bud outgrowth involved in lung branching (GO:0060447)|camera-type eye development (GO:0043010)|canonical Wnt signaling pathway (GO:0060070)|CD4-positive or CD8-positive, alpha-beta T cell lineage commitment (GO:0043369)|cell development (GO:0048468)|cell fate specification (GO:0001708)|cell-cell signaling (GO:0007267)|cellular response to lithium ion (GO:0071285)|central nervous system development (GO:0007417)|cerebellar granule cell precursor proliferation (GO:0021930)|determination of left/right asymmetry in lateral mesoderm (GO:0003140)|dorsal/ventral neural tube patterning (GO:0021904)|dorsal/ventral pattern formation (GO:0009953)|ectoderm development (GO:0007398)|embryo development (GO:0009790)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic digit morphogenesis (GO:0042733)|embryonic foregut morphogenesis (GO:0048617)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic limb morphogenesis (GO:0030326)|embryonic pattern specification (GO:0009880)|embryonic skeletal system development (GO:0048706)|endocytosis (GO:0006897)|epithelial cell proliferation involved in salivary gland morphogenesis (GO:0060664)|epithelial-mesenchymal signaling involved in prostate gland development (GO:0060738)|establishment of cell polarity (GO:0030010)|forebrain development (GO:0030900)|formation of anatomical boundary (GO:0048859)|hair follicle morphogenesis (GO:0031069)|heart development (GO:0007507)|heart looping (GO:0001947)|hindbrain development (GO:0030902)|hindgut morphogenesis (GO:0007442)|inner ear development (GO:0048839)|intein-mediated protein splicing (GO:0016539)|intermediate filament organization (GO:0045109)|left lung development (GO:0060459)|limb bud formation (GO:0060174)|lung development (GO:0030324)|lung epithelium development (GO:0060428)|lung lobe morphogenesis (GO:0060463)|lung-associated mesenchyme development (GO:0060484)|lymphoid progenitor cell differentiation (GO:0002320)|male genitalia development (GO:0030539)|mesenchymal cell proliferation involved in lung development (GO:0060916)|mesenchymal smoothened signaling pathway involved in prostate gland development (GO:0060783)|metanephric mesenchymal cell proliferation involved in metanephros development (GO:0072136)|metanephros development (GO:0001656)|midbrain development (GO:0030901)|multicellular structure septum development (GO:0080125)|myoblast differentiation (GO:0045445)|myotube differentiation (GO:0014902)|negative regulation of alpha-beta T cell differentiation (GO:0046639)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell differentiation (GO:0045596)|negative regulation of cell migration (GO:0030336)|negative regulation of cholesterol efflux (GO:0090370)|negative regulation of kidney smooth muscle cell differentiation (GO:2000357)|negative regulation of mesenchymal cell apoptotic process (GO:2001054)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|negative regulation of T cell proliferation (GO:0042130)|negative regulation of transcription elongation from RNA polymerase II promoter (GO:0034244)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of ureter smooth muscle cell differentiation (GO:2000062)|negative thymic T cell selection (GO:0045060)|neural crest cell migration (GO:0001755)|neuroblast proliferation (GO:0007405)|neuron fate commitment (GO:0048663)|odontogenesis of dentin-containing tooth (GO:0042475)|oligodendrocyte development (GO:0014003)|organ formation (GO:0048645)|osteoblast development (GO:0002076)|palate development (GO:0060021)|pancreas development (GO:0031016)|pattern specification process (GO:0007389)|patterning of blood vessels (GO:0001569)|polarity specification of anterior/posterior axis (GO:0009949)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation involved in prostate gland development (GO:0060769)|positive regulation of hh target transcription factor activity (GO:0007228)|positive regulation of immature T cell proliferation in thymus (GO:0033092)|positive regulation of kidney smooth muscle cell differentiation (GO:2000358)|positive regulation of mesenchymal cell proliferation involved in ureter development (GO:2000729)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of oligodendrocyte differentiation (GO:0048714)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of sclerotome development (GO:0061189)|positive regulation of skeletal muscle cell proliferation (GO:0014858)|positive regulation of skeletal muscle tissue development (GO:0048643)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of striated muscle cell differentiation (GO:0051155)|positive regulation of T cell differentiation in thymus (GO:0033089)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of ureter smooth muscle cell differentiation (GO:2000063)|positive regulation of Wnt signaling pathway (GO:0030177)|positive thymic T cell selection (GO:0045059)|primary prostatic bud elongation (GO:0060516)|prostate epithelial cord elongation (GO:0060523)|prostate gland development (GO:0030850)|protein localization to nucleus (GO:0034504)|regulation of cell proliferation (GO:0042127)|regulation of mesenchymal cell proliferation involved in prostate gland development (GO:0060782)|regulation of nodal signaling pathway involved in determination of lateral mesoderm left/right asymmetry (GO:1900175)|regulation of odontogenesis (GO:0042481)|regulation of prostatic bud formation (GO:0060685)|regulation of protein localization to nucleus (GO:1900180)|regulation of proteolysis (GO:0030162)|renal system development (GO:0072001)|right lung development (GO:0060458)|salivary gland cavitation (GO:0060662)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation (GO:0021938)|somite development (GO:0061053)|spinal cord dorsal/ventral patterning (GO:0021513)|spinal cord motor neuron differentiation (GO:0021522)|stem cell development (GO:0048864)|striated muscle tissue development (GO:0014706)|T cell differentiation in thymus (GO:0033077)|telencephalon regionalization (GO:0021978)|thalamus development (GO:0021794)|thymus development (GO:0048538)|thyroid gland development (GO:0030878)|trachea morphogenesis (GO:0060439)|vasculogenesis (GO:0001570)|ventral midline development (GO:0007418)	cell surface (GO:0009986)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|glycosaminoglycan binding (GO:0005539)|laminin-1 binding (GO:0043237)|morphogen activity (GO:0016015)|patched binding (GO:0005113)|peptidase activity (GO:0008233)|zinc ion binding (GO:0008270)			central_nervous_system(3)|kidney(1)|large_intestine(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	14	all_neural(206;0.101)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.00882)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GCACCCGGAGCGTCGGCAGCA	0.756																																						ENST00000297261.2																			0				central_nervous_system(3)|kidney(1)|large_intestine(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	14						c.(1267-1269)Gct>Act		sonic hedgehog							7	9	9					7																	155595716		1678	3545	5223	SO:0001583	missense	6469				androgen metabolic process|axon guidance|branching involved in ureteric bud morphogenesis|CD4-positive or CD8-positive, alpha-beta T cell lineage commitment|embryonic digit morphogenesis|hindbrain development|intein-mediated protein splicing|lymphoid progenitor cell differentiation|metanephric mesenchymal cell proliferation involved in metanephros development|midbrain development|negative regulation of cell migration|negative regulation of kidney smooth muscle cell differentiation|negative regulation of ureter smooth muscle cell differentiation|negative thymic T cell selection|neural crest cell migration|neuroblast proliferation|patterning of blood vessels|positive regulation of alpha-beta T cell differentiation|positive regulation of immature T cell proliferation in thymus|positive regulation of kidney smooth muscle cell differentiation|positive regulation of mesenchymal cell proliferation involved in ureter development|positive regulation of T cell differentiation in thymus|positive regulation of ureter smooth muscle cell differentiation|positive thymic T cell selection|proteolysis|sclerotome development|stem cell development|thymus development|vasculogenesis|ventral midline development	cell surface|extracellular space|membrane raft|plasma membrane	calcium ion binding|laminin-1 binding|peptidase activity|signal transducer activity|zinc ion binding	g.chr7:155595716C>T		CCDS5942.1	7q36	2010-06-25	2010-06-25		ENSG00000164690	ENSG00000164690			10848	protein-coding gene	gene with protein product		600725	"sonic hedgehog (Drosophila) homolog", "sonic hedgehog homolog (Drosophila)"	HPE3, HLP3		7590746	Standard	NM_000193		Approved	HHG1, SMMCI, TPT, TPTPS, MCOPCB5	uc003wmk.1	Q15465	OTTHUMG00000151349	ENST00000297261.2:c.1267G>A	7.37:g.155595716C>T	ENSP00000297261:p.Ala423Thr						p.A423T	NM_000193.2	NP_000184.1	Q15465	SHH_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00882)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	3	1417	-	all_neural(206;0.101)	all_hematologic(28;0.0592)	423					A4D247|Q75MC9	Missense_Mutation	SNP	ENST00000297261.2	37	c.1267G>A	CCDS5942.1	.	.	.	.	.	.	.	.	.	.	C	1.215	-0.628495	0.03610	.	.	ENSG00000164690	ENST00000297261	D	0.99264	-5.65	3.1	3.1	0.35709	Peptidase C46, hedgehog protein, hint region (1);	0.969547	0.08484	N	0.939044	D	0.96839	0.8968	L	0.45581	1.43	0.09310	N	1	B;P	0.35612	0.224;0.512	B;B	0.28638	0.057;0.092	D	0.94170	0.7422	10	0.14252	T	0.57	.	5.7907	0.18359	0.0:0.6834:0.2006:0.1159	.	423;426	Q15465;D9ZGF9	SHH_HUMAN;.	T	423	ENSP00000297261:A423T	ENSP00000297261:A423T	A	-	1	0	SHH	155288477	0.260000	0.24053	0.010000	0.14722	0.009000	0.06853	1.952000	0.40343	1.562000	0.49601	0.561000	0.74099	GCT		0.756	SHH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322327.1	NM_000193		8	19	0	0	0	1	0	8	19					T	155595716	C	T	155595716	3	4	305	1	0	0	0	0	1	0	0	0	14279	768	27	1	125	1	SHH	7	155595716	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	3735253	155595716	3542947	467	14984											
UBE3C	9690	broad.mit.edu	37	chr7	157049709	157049709	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctgaagtttgtaacaagcTgctctcgaccccctctcttg	7	13	8	13	1	2	1	0	1	2	0	4	2	2	1	2	0	4	5	2	0	3	3			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr7:157049709T>C	ENST00000348165.5	+	22	3412	c.3052T>C	c.(3052-3054)Tgc>Cgc	p.C1018R		NM_014671.2	NP_055486.2	Q15386	UBE3C_HUMAN	ubiquitin protein ligase E3C	1018	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634)|proteasome complex (GO:0000502)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			central_nervous_system(2)|endometrium(3)|kidney(16)|large_intestine(13)|lung(25)|ovary(2)|prostate(1)|urinary_tract(1)	63		all_hematologic(28;0.0185)|all_epithelial(9;0.0664)	OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)		TGTAACAAGCTGCTCTCGACC	0.433																																						ENST00000348165.5																			0				central_nervous_system(2)|endometrium(3)|kidney(16)|large_intestine(13)|lung(25)|ovary(2)|prostate(1)|urinary_tract(1)	63						c.(3052-3054)Tgc>Cgc		ubiquitin protein ligase E3C							144	137	139					7																	157049709		2203	4300	6503	SO:0001583	missense	9690				protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus|proteasome complex	protein binding|ubiquitin-protein ligase activity	g.chr7:157049709T>C	AK127280	CCDS34789.1	7q36.3	2004-05-04			ENSG00000009335	ENSG00000009335			16803	protein-coding gene	gene with protein product		614454				7584026, 11278995	Standard	NM_014671		Approved	KIAA0010, KIAA10	uc010lqs.3	Q15386	OTTHUMG00000157239	ENST00000348165.5:c.3052T>C	7.37:g.157049709T>C	ENSP00000309198:p.Cys1018Arg						p.C1018R	NM_014671.2	NP_055486.2	Q15386	UBE3C_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)	22	3412	+		all_hematologic(28;0.0185)|all_epithelial(9;0.0664)	1018			HECT.		A4D235|A6NCP3|Q8TC15|Q96CR4|Q9UDU3	Missense_Mutation	SNP	ENST00000348165.5	37	c.3052T>C	CCDS34789.1	.	.	.	.	.	.	.	.	.	.	T	16.76	3.212217	0.58452	.	.	ENSG00000009335	ENST00000348165	T	0.59502	0.26	5.67	5.67	0.87782	HECT (4);	0.000000	0.85682	D	0.000000	T	0.75503	0.3858	M	0.72353	2.195	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.78537	-0.2166	10	0.87932	D	0	.	15.9212	0.79575	0.0:0.0:0.0:1.0	.	1018;871	Q15386;B4DHJ9	UBE3C_HUMAN;.	R	1018	ENSP00000309198:C1018R	ENSP00000309198:C1018R	C	+	1	0	UBE3C	156742470	1.000000	0.71417	1.000000	0.80357	0.145000	0.21501	7.553000	0.82203	2.155000	0.67459	0.460000	0.39030	TGC		0.433	UBE3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348108.1	NM_014671		31	82	0	0	0	1	0	31	82					C	157049709	T	C	157049709	3	2	305	1	0	0	0	0	1	0	0	0	16878	1580	55	4	3138	4	UBE3C	7	157049709	Missense_Mutation	SNP	T	TCGA-KK-A59V-01A-11D-A29Q-08	1453993	157049709	2088954	468	14985											
SGK223	157285	broad.mit.edu	37	chr8	8176649	8176649	+	Frame_Shift_Del	DEL	G	G	-																															cgcagtcctgctcctgggcaGgggggtgtgtgggcagggca																								rs374751432		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr8:8176649delG	ENST00000520004.1	-	6	3500	c.3236delC	c.(3235-3237)cctfs	p.P1079fs	SGK223_ENST00000330777.4_Frame_Shift_Del_p.P1079fs			Q86YV5	SG223_HUMAN		1081	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.						ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)										CTCCTGGGCAGGGGGGTGTGT	0.706																																					GBM(34;731 755 10259 33573 33867)	ENST00000520004.1																			0											c.(3235-3237)ctfs									34	42	39					8																	8176649		2147	4228	6375	SO:0001589	frameshift_variant	0						ATP binding|non-membrane spanning protein tyrosine kinase activity	g.chr8:8176649delG																												ENST00000520004.1:c.3236delC	8.37:g.8176649delG	ENSP00000428054:p.Pro1079fs					SGK223_ENST00000330777.4_Frame_Shift_Del_p.P1079fs	p.P1079fs			Q86YV5	SG223_HUMAN			6	3500	-			1079			Protein kinase.		Q8N3N5	Frame_Shift_Del	DEL	ENST00000520004.1	37	c.3236delC	CCDS43706.1																																																																																				0.706	SGK223-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374864.1			21	153						21	153	---	---	---	---	-	8176649	G	-	8176649	7	5	305	1	0	1	0	1	0	0	0	0	14210	1000	35	0	976	0	SGK223	8	8176649	Frame_Shift_Del	DEL	G	TCGA-KK-A59V-01A-11D-A29Q-08		8176649	138187373	469	14986											
TNKS	8658	broad.mit.edu	37	chr8	9623921	9623922	+	Frame_Shift_Ins	INS	-	-	TA																															cacacaaggacaggtcatgcINStatatatgtcacaggtaagc																										TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr8:9623921_9623922insTA	ENST00000310430.6	+	25	3752_3753	c.3726_3727insTA	c.(3727-3729)tatfs	p.Y1243fs	TNKS_ENST00000518281.1_Frame_Shift_Ins_p.Y1006fs	NM_003747.2	NP_003738.2	O95271	TNKS1_HUMAN	tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase	1243	PARP catalytic. {ECO:0000255|PROSITE- ProRule:PRU00397}.				mitotic nuclear division (GO:0007067)|mitotic spindle organization (GO:0007052)|mRNA transport (GO:0051028)|negative regulation of DNA binding (GO:0043392)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of telomere maintenance via telomerase (GO:0032212)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein ADP-ribosylation (GO:0006471)|protein auto-ADP-ribosylation (GO:0070213)|protein localization to chromosome, telomeric region (GO:0070198)|protein poly-ADP-ribosylation (GO:0070212)|protein polyubiquitination (GO:0000209)|protein transport (GO:0015031)|regulation of telomere maintenance via telomerase (GO:0032210)|spindle assembly (GO:0051225)|Wnt signaling pathway (GO:0016055)	chromosome, centromeric region (GO:0000775)|chromosome, telomeric region (GO:0000781)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nuclear chromosome, telomeric region (GO:0000784)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleus (GO:0005634)|pericentriolar material (GO:0000242)	NAD+ ADP-ribosyltransferase activity (GO:0003950)|zinc ion binding (GO:0008270)			NS(1)|endometrium(10)|kidney(6)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	49				COAD - Colon adenocarcinoma(149;0.0467)		ACAGGTCATGCTATATATGTCA	0.406																																						ENST00000310430.6																			0				NS(1)|endometrium(10)|kidney(6)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	49						c.(3724-3729)tgatatfs		tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase																																				SO:0001589	frameshift_variant	8658				mitotic spindle organization|mRNA transport|negative regulation of DNA binding|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of telomere maintenance via telomerase|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein poly-ADP-ribosylation|protein polyubiquitination|protein transport|spindle assembly|transmembrane transport|Wnt receptor signaling pathway	chromosome, centromeric region|Golgi membrane|microsome|nuclear chromosome, telomeric region|nuclear membrane|nuclear pore|pericentriolar material	NAD+ ADP-ribosyltransferase activity|protein binding|zinc ion binding	g.chr8:9623921_9623922insTA	AF082556	CCDS5974.1	8p23.1	2013-01-10			ENSG00000173273	ENSG00000173273		"Poly (ADP-ribose) polymerases", "Sterile alpha motif (SAM) domain containing", "Ankyrin repeat domain containing"	11941	protein-coding gene	gene with protein product		603303				9822378, 10198177	Standard	XM_006716263		Approved	TIN1, TINF1, TNKS1, PARP-5a, PARP5A, pART5	uc003wss.3	O95271	OTTHUMG00000090481	ENST00000310430.6:c.3731_3732dupTA	8.37:g.9623926_9623927dupTA	ENSP00000311579:p.Tyr1243fs					TNKS_ENST00000518281.1_Frame_Shift_Ins_p.*Y1005fs	p.*Y1242fs	NM_003747.2	NP_003738.2	O95271	TNKS1_HUMAN		COAD - Colon adenocarcinoma(149;0.0467)	25	3752_3753	+			1242			PARP catalytic.		O95272|Q4G0F2	Frame_Shift_Ins	INS	ENST00000310430.6	37	c.3726_3727insTA	CCDS5974.1																																																																																				0.406	TNKS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206935.1	NM_003747		9	123						9	123	---	---	---	---	TA	9623922	-	TA	9623921	7	5	305	1	0	1	1	0	0	0	0	0	16316	805	28	0	3824	0	TNKS	8	9623921	Frame_Shift_Ins	INS	-	TCGA-KK-A59V-01A-11D-A29Q-08	1447272	9623921	136740101	470	14987											
RP1L1	94137	broad.mit.edu	37	chr8	10480680	10480680	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggaagcactcacggtggctcGgggcctgggcattcctgggg	5	7	18	11	2	1	0	1	0	0	0	3	1	2	1	2	8	1	3	2	8	1	1	rs199642627	byFrequency	TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr8:10480680G>A	ENST00000382483.3	-	2	255	c.32C>T	c.(31-33)cCg>cTg	p.P11L	RP1L1_ENST00000329335.3_5'UTR	NM_178857.5	NP_849188.4	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	11					cell projection organization (GO:0030030)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|visual perception (GO:0007601)	axoneme (GO:0005930)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|photoreceptor connecting cilium (GO:0032391)|photoreceptor outer segment (GO:0001750)				breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		ACGGTGGCTCGGGGCCTGGGC	0.642													g|||	4	0.000798722	0.0023	0	5008	,	,		15480	0.001		0	False		,,,				2504	0					ENST00000382483.3																			0				breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148						c.(31-33)cCg>cTg		retinitis pigmentosa 1-like 1			LEU/PRO	15,3933		0,15,1959	30	33	32		32	2.5	0.2	8		32	1,8275		0,1,4137	yes	missense	RP1L1	NM_178857.5	98	0,16,6096	AA,AG,GG		0.0121,0.3799,0.1309	probably-damaging	11/2401	10480680	16,12208	1974	4138	6112	SO:0001583	missense	94137				intracellular signal transduction			g.chr8:10480680G>A	AY168346	CCDS43708.1	8p23.1	2011-12-06			ENSG00000183638	ENSG00000183638			15946	protein-coding gene	gene with protein product		608581				12634863	Standard	NM_178857		Approved	DCDC4B	uc003wtc.3	Q8IWN7	OTTHUMG00000163806	ENST00000382483.3:c.32C>T	8.37:g.10480680G>A	ENSP00000371923:p.Pro11Leu					RP1L1_ENST00000329335.3_5'UTR	p.P11L	NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN		COAD - Colon adenocarcinoma(149;0.0811)	2	255	-			11					Q86SQ1|Q8IWN8|Q8IWN9|Q8IWP0|Q8IWP1|Q8IWP2	Missense_Mutation	SNP	ENST00000382483.3	37	c.32C>T	CCDS43708.1	3	0.0013736263736263737	2	0.0040650406504065045	0	0.0	1	0.0017482517482517483	0	0.0	g	22.2	4.256721	0.80246	0.003799	1.21E-4	ENSG00000183638	ENST00000382483	T	0.06528	3.29	4.53	2.5	0.30297	.	.	.	.	.	T	0.16085	0.0387	L	0.44542	1.39	0.24800	N	0.992708	D	0.89917	1.0	D	0.70227	0.968	T	0.05068	-1.0908	9	0.87932	D	0	-12.4659	11.0378	0.47811	0.0:0.0:0.6555:0.3445	.	11	A6NKC6	.	L	11	ENSP00000371923:P11L	ENSP00000371923:P11L	P	-	2	0	RP1L1	10518090	0.641000	0.27251	0.221000	0.23827	0.815000	0.46073	0.842000	0.27627	1.097000	0.41459	0.457000	0.33378	CCG		0.642	RP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375673.1			4	118	0	0	0	1	0	4	118					A	10480680	G	A	10480680	3	1	305	1	0	0	0	0	1	0	0	0	13533	1116	39	2	7182	2	RP1L1	8	10480680	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	856759	10480680	135883342	471	14988											
DLC1	10395	broad.mit.edu	37	chr8	13356944	13356944	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aatatctttcacgttcaaagTatccactgcatttactttgg	11	16	5	9	1	3	0	2	0	1	0	4	0	4	0	1	1	2	3	1	1	5	7			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr8:13356944T>C	ENST00000276297.4	-	2	1046	c.637A>G	c.(637-639)Act>Gct	p.T213A	DLC1_ENST00000316609.5_Missense_Mutation_p.T213A|DLC1_ENST00000511869.1_Missense_Mutation_p.T213A	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN	DLC1 Rho GTPase activating protein	213					actin cytoskeleton organization (GO:0030036)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|focal adhesion assembly (GO:0048041)|forebrain development (GO:0030900)|heart morphogenesis (GO:0003007)|hindbrain morphogenesis (GO:0021575)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of stress fiber assembly (GO:0051497)|neural tube closure (GO:0001843)|positive regulation of execution phase of apoptosis (GO:1900119)|positive regulation of protein dephosphorylation (GO:0035307)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	lipid binding (GO:0008289)|Rho GTPase activator activity (GO:0005100)|SH2 domain binding (GO:0042169)			NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						ACGTTCAAAGTATCCACTGCA	0.383																																						ENST00000276297.4																			0				NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						c.(637-639)Act>Gct		deleted in liver cancer 1							152	148	150					8																	13356944		2203	4300	6503	SO:0001583	missense	10395				actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding	g.chr8:13356944T>C	AF035119	CCDS5989.1, CCDS5990.1, CCDS5991.1, CCDS5991.2, CCDS55201.1	8p22	2014-06-20	2014-06-20		ENSG00000164741	ENSG00000164741		"Rho GTPase activating proteins", "StAR-related lipid transfer (START) domain containing"	2897	protein-coding gene	gene with protein product	"StAR-related lipid transfer (START) domain containing 12"	604258	"deleted in liver cancer 1"			9605766, 11214970	Standard	NM_182643		Approved	HP, ARHGAP7, STARD12, DLC-1, p122-RhoGAP	uc003wwm.2	Q96QB1	OTTHUMG00000090825	ENST00000276297.4:c.637A>G	8.37:g.13356944T>C	ENSP00000276297:p.Thr213Ala					DLC1_ENST00000511869.1_Missense_Mutation_p.T213A|DLC1_ENST00000316609.5_Missense_Mutation_p.T213A	p.T213A	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN			2	1046	-			213					B4DR10|B8PTI0|E9PDZ8|E9PF76|E9PGY9|O14868|O43199|Q7Z5R8|Q86UC6|Q9C0E0|Q9H7A2	Missense_Mutation	SNP	ENST00000276297.4	37	c.637A>G	CCDS5989.1	.	.	.	.	.	.	.	.	.	.	T	2.966	-0.213432	0.06140	.	.	ENSG00000164741	ENST00000276297;ENST00000316609;ENST00000511869	T;T;T	0.28454	1.61;1.61;1.61	4.84	-2.8	0.05823	.	0.387217	0.19032	N	0.124519	T	0.14570	0.0352	L	0.29908	0.895	0.09310	N	1	B;B;B	0.13594	0.001;0.008;0.0	B;B;B	0.09377	0.004;0.003;0.0	T	0.09840	-1.0656	10	0.46703	T	0.11	.	1.0015	0.01478	0.4714:0.1597:0.1368:0.2321	.	213;213;213	E9PF76;Q96QB1-3;Q96QB1	.;.;RHG07_HUMAN	A	213	ENSP00000276297:T213A;ENSP00000321034:T213A;ENSP00000425878:T213A	ENSP00000276297:T213A	T	-	1	0	DLC1	13401315	0.095000	0.21747	0.006000	0.13384	0.028000	0.11728	0.396000	0.20867	-0.190000	0.10465	-0.438000	0.05819	ACT		0.383	DLC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207632.2	NM_182643, NM_006094		5	229	0	0	0	1	0	5	229					C	13356944	T	C	13356944	3	2	305	1	0	0	0	0	1	0	0	0	4550	1638	57	4	4102	4	DLC1	8	13356944	Missense_Mutation	SNP	T	TCGA-KK-A59V-01A-11D-A29Q-08	2876264	13356944	133007078	472	14989											
CNOT7	29883	broad.mit.edu	37	chr8	17102627	17102627	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgcaagcccaaacttcacaaAttctttggctatgatctaca	13	12	5	11	0	3	1	1	1	2	0	3	1	3	1	1	1	4	2	1	1	5	5			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr8:17102627A>C	ENST00000361272.4	-	2	333	c.35T>G	c.(34-36)aTt>aGt	p.I12S	VPS37A_ENST00000324849.4_5'Flank|VPS37A_ENST00000324815.3_5'Flank|VPS37A_ENST00000521829.1_5'Flank|CNOT7_ENST00000518885.1_5'UTR|CNOT7_ENST00000523917.1_Missense_Mutation_p.I12S|VPS37A_ENST00000521005.1_5'Flank	NM_013354.5	NP_037486.2	Q9UIV1	CNOT7_HUMAN	CCR4-NOT transcription complex, subunit 7	12					carbohydrate metabolic process (GO:0005975)|cytoplasmic mRNA processing body assembly (GO:0033962)|deadenylation-dependent decapping of nuclear-transcribed mRNA (GO:0000290)|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|gene silencing by miRNA (GO:0035195)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|negative regulation of cell proliferation (GO:0008285)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of cell proliferation (GO:0008284)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	CCR4-NOT complex (GO:0030014)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	3'-5'-exoribonuclease activity (GO:0000175)|exoribonuclease activity (GO:0004532)|metal ion binding (GO:0046872)|poly(A)-specific ribonuclease activity (GO:0004535)|RNA binding (GO:0003723)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)	11				Colorectal(111;0.0523)|COAD - Colon adenocarcinoma(73;0.209)		AACTTCACAAATTCTTTGGCT	0.398																																						ENST00000361272.4																			0				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)	11						c.(34-36)aTt>aGt		CCR4-NOT transcription complex, subunit 7							60	58	58					8																	17102627		2203	4300	6503	SO:0001583	missense	29883				carbohydrate metabolic process|nuclear-transcribed mRNA poly(A) tail shortening	CCR4-NOT complex|cytoplasmic mRNA processing body|cytosol	nucleic acid binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr8:17102627A>C	L46722	CCDS6000.2, CCDS55202.1	8p22-p21.3	2008-08-07			ENSG00000198791	ENSG00000198791			14101	protein-coding gene	gene with protein product	"BTG1 binding factor 1"	604913		CAF1		10637334, 1538749, 17264152	Standard	XM_005273481		Approved		uc003wxg.1	Q9UIV1	OTTHUMG00000096971	ENST00000361272.4:c.35T>G	8.37:g.17102627A>C	ENSP00000355279:p.Ile12Ser					CNOT7_ENST00000518885.1_5'UTR|CNOT7_ENST00000523917.1_Missense_Mutation_p.I12S	p.I12S	NM_013354.5	NP_037486.2	Q9UIV1	CNOT7_HUMAN		Colorectal(111;0.0523)|COAD - Colon adenocarcinoma(73;0.209)	2	333	-			12					A8MZM5|B3KMP1|B3KN35|D3DSP6|G3V108|Q7Z530	Missense_Mutation	SNP	ENST00000361272.4	37	c.35T>G	CCDS6000.2	.	.	.	.	.	.	.	.	.	.	A	23.3	4.395879	0.83011	.	.	ENSG00000198791	ENST00000361272;ENST00000523917;ENST00000524358;ENST00000520178	T;T;T;T	0.58060	0.36;0.36;0.36;0.36	4.77	4.77	0.60923	Ribonuclease H-like (1);	0.000000	0.85682	D	0.000000	T	0.77150	0.4088	M	0.89968	3.075	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.82944	-0.0206	10	0.87932	D	0	-12.3301	14.9907	0.71387	1.0:0.0:0.0:0.0	.	12;12	G3V108;Q9UIV1	.;CNOT7_HUMAN	S	12	ENSP00000355279:I12S;ENSP00000429093:I12S;ENSP00000430160:I12S;ENSP00000429079:I12S	ENSP00000355279:I12S	I	-	2	0	CNOT7	17146998	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.962000	0.93254	2.086000	0.62901	0.528000	0.53228	ATT		0.398	CNOT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214038.1	NM_013354		14	29	0	0	0	1	0	14	29					C	17102627	A	C	17102627	3	2	305	1	0	0	0	0	1	0	0	0	3624	101	4	5	852	5	CNOT7	8	17102627	Missense_Mutation	SNP	A	TCGA-KK-A59V-01A-11D-A29Q-08	3745683	17102627	129261395	473	14990											
LZTS1	11178	broad.mit.edu	37	chr8	20107641	20107641	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	accttctcccgcagcagctcCgcctcgttcttcttgcgctg	3	12	8	18	4	3	0	0	0	3	0	6	0	4	0	4	0	3	5	4	0	0	4	rs35939758		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr8:20107641C>T	ENST00000381569.1	-	4	1740	c.1383G>A	c.(1381-1383)gcG>gcA	p.A461A	LZTS1_ENST00000522290.1_Silent_p.A461A|LZTS1_ENST00000265801.6_Silent_p.A461A			Q9Y250	LZTS1_HUMAN	leucine zipper, putative tumor suppressor 1	461					cell cycle (GO:0007049)|gene expression (GO:0010467)|innate immune response (GO:0045087)|negative regulation of macroautophagy (GO:0016242)|positive regulation of type I interferon production (GO:0032481)|regulation of dendrite morphogenesis (GO:0048814)|regulation of transcription, DNA-templated (GO:0006355)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)	apical plasma membrane (GO:0016324)|cell body (GO:0044297)|cell junction (GO:0030054)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|nucleoplasm (GO:0005654)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(16)|ovary(2)|skin(1)|urinary_tract(1)	29				Colorectal(74;0.0511)|COAD - Colon adenocarcinoma(73;0.207)		GCAGCAGCTCCGCCTCGTTCT	0.701													t|||	1	0.000199681	8e-04	0	5008	,	,		17523	0		0	False		,,,				2504	0					ENST00000381569.1																			0				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(16)|ovary(2)|skin(1)|urinary_tract(1)	29						c.(1381-1383)gcG>gcA		leucine zipper, putative tumor suppressor 1							61	63	62					8																	20107641		2202	4300	6502	SO:0001819	synonymous_variant	11178				cell cycle|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	cell junction|dendritic spine|Golgi apparatus|nucleolus|nucleoplasm|postsynaptic density|postsynaptic membrane	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr8:20107641C>T	AF123659	CCDS6015.1	8p22	2012-10-05			ENSG00000061337	ENSG00000061337			13861	protein-coding gene	gene with protein product		606551	"F37/Esophageal cancer-related gene-coding leucine-zipper motif"			10097140, 17349584	Standard	NM_021020		Approved	FEZ1	uc003wzr.3	Q9Y250	OTTHUMG00000097027	ENST00000381569.1:c.1383G>A	8.37:g.20107641C>T						LZTS1_ENST00000265801.6_Silent_p.A461A|LZTS1_ENST00000522290.1_Silent_p.A461A	p.A461A			Q9Y250	LZTS1_HUMAN		Colorectal(74;0.0511)|COAD - Colon adenocarcinoma(73;0.207)	4	1740	-			461					D3DSQ6|Q9Y5V7|Q9Y5V8|Q9Y5V9|Q9Y5W0|Q9Y5W1|Q9Y5W2	Silent	SNP	ENST00000381569.1	37	c.1383G>A	CCDS6015.1																																																																																				0.701	LZTS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214122.1	NM_021020		61	149	0	0	0	1	0	61	149					T	20107641	C	T	20107641	2	4	305	1	0	0	0	0	0	0	0	1	9138	639	23	2		2	LZTS1	8	20107641	Silent	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	3005014	20107641	126256381	474	14991											
PIWIL2	55124	broad.mit.edu	37	chr8	22140592	22140592	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgtctttattaccactgggAagagcagcaggtggtatcag	10	10	13	8	1	2	1	1	0	1	1	2	2	2	2	1	3	3	3	1	3	4	4			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr8:22140592A>G	ENST00000454009.2	+	5	980	c.471A>G	c.(469-471)ggA>ggG	p.G157G	PIWIL2_ENST00000356766.6_Silent_p.G157G|PIWIL2_ENST00000521356.1_Silent_p.G157G	NM_001135721.1	NP_001129193.1	Q8TC59	PIWL2_HUMAN	piwi-like RNA-mediated gene silencing 2	157					DNA methylation involved in gamete generation (GO:0043046)|gene silencing by RNA (GO:0031047)|germ-line stem cell maintenance (GO:0030718)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|oogenesis (GO:0048477)|piRNA metabolic process (GO:0034587)|positive regulation of meiosis I (GO:0060903)|positive regulation of translation (GO:0045727)|RNA 5'-end processing (GO:0000966)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|P granule (GO:0043186)|pi-body (GO:0071546)|polysome (GO:0005844)	mRNA binding (GO:0003729)|piRNA binding (GO:0034584)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(14)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	46				Colorectal(74;0.018)|COAD - Colon adenocarcinoma(73;0.0707)		TACCACTGGGAAGAGCAGCAG	0.532																																						ENST00000356766.6																			0				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(14)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	46						c.(469-471)ggA>ggG		piwi-like RNA-mediated gene silencing 2							90	81	84					8																	22140592		2203	4300	6503	SO:0001819	synonymous_variant	55124				DNA methylation involved in gamete generation|gene silencing by RNA|germ-line stem cell maintenance|multicellular organismal development|oogenesis|piRNA metabolic process|positive regulation of translation|RNA 5'-end processing|spermatogenesis	chromatoid body|pi-body	piRNA binding	g.chr8:22140592A>G	AK001213	CCDS6029.1	8p24	2013-02-15	2013-02-15		ENSG00000197181	ENSG00000197181		"Argonaute/PIWI family"	17644	protein-coding gene	gene with protein product	"Hiwi-like", "cancer/testis antigen 80"	610312	"piwi-like 2 (Drosophila)"			11279525, 12906857	Standard	NM_018068		Approved	HILI, FLJ10351, Mili, CT80	uc003xbn.2	Q8TC59	OTTHUMG00000097767	ENST00000454009.2:c.471A>G	8.37:g.22140592A>G						PIWIL2_ENST00000521356.1_Silent_p.G157G|PIWIL2_ENST00000454009.2_Silent_p.G157G	p.G157G	NM_018068.3	NP_060538.2	Q8TC59	PIWL2_HUMAN		Colorectal(74;0.018)|COAD - Colon adenocarcinoma(73;0.0707)	5	619	+			157					A8K4S3|A8K8S5|B0AZN9|B0AZP2|B4DR22|E7ECA4|Q96SW6|Q9NW28	Silent	SNP	ENST00000454009.2	37	c.471A>G	CCDS6029.1																																																																																				0.532	PIWIL2-003	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000375438.1			22	56	0	0	0	1	0	22	56					G	22140592	A	G	22140592	2	3	305	1	0	0	0	0	0	0	0	1	11958	233	9	4		4	PIWIL2	8	22140592	Silent	SNP	A	TCGA-KK-A59V-01A-11D-A29Q-08	2032951	22140592	124223430	475	14992											
SORBS3	10174	broad.mit.edu	37	chr8	22415670	22415670	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagacccagagactggtaccGgagaatgttccagcagattc	12	7	11	11	1	0	4	0	0	0	4	2	6	1	4	3	2	2	3	3	2	2	3			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr8:22415670G>A	ENST00000240123.7	+	5	826	c.443G>A	c.(442-444)cGg>cAg	p.R148Q	SORBS3_ENST00000523402.1_Missense_Mutation_p.R148Q	NM_005775.4	NP_005766.3	O60504	VINEX_HUMAN	sorbin and SH3 domain containing 3	148	SoHo. {ECO:0000255|PROSITE- ProRule:PRU00195}.				actin filament organization (GO:0007015)|cell adhesion (GO:0007155)|cell-substrate adhesion (GO:0031589)|muscle contraction (GO:0006936)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cytoskeleton organization (GO:0051495)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of stress fiber assembly (GO:0051496)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)|vinculin binding (GO:0017166)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(9)	18		Prostate(55;0.0421)|Breast(100;0.102)		BRCA - Breast invasive adenocarcinoma(99;0.00566)|Colorectal(74;0.0146)|COAD - Colon adenocarcinoma(73;0.061)		GACTGGTACCGGAGAATGTTC	0.517																																						ENST00000240123.7																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(9)	18						c.(442-444)cGg>cAg		sorbin and SH3 domain containing 3							114	115	114					8																	22415670		2203	4300	6503	SO:0001583	missense	10174				muscle contraction|positive regulation of stress fiber assembly	cytoskeleton|cytosol|nucleus	protein binding|structural constituent of cytoskeleton|vinculin binding	g.chr8:22415670G>A		CCDS6031.1	8p21.3	2008-02-05			ENSG00000120896	ENSG00000120896			30907	protein-coding gene	gene with protein product		610795				9885244, 12510380	Standard	NM_001018003		Approved	SCAM-1, SH3D4, vinexin	uc003xbv.3	O60504	OTTHUMG00000131728	ENST00000240123.7:c.443G>A	8.37:g.22415670G>A	ENSP00000240123:p.Arg148Gln					SORBS3_ENST00000523402.1_Missense_Mutation_p.R148Q	p.R148Q	NM_005775.4	NP_005766.3	O60504	VINEX_HUMAN		BRCA - Breast invasive adenocarcinoma(99;0.00566)|Colorectal(74;0.0146)|COAD - Colon adenocarcinoma(73;0.061)	5	826	+		Prostate(55;0.0421)|Breast(100;0.102)	148			SoHo.		Q5BJE4|Q6NX54|Q96FY4|Q9UQE4	Missense_Mutation	SNP	ENST00000240123.7	37	c.443G>A	CCDS6031.1	.	.	.	.	.	.	.	.	.	.	G	24.9	4.584254	0.86748	.	.	ENSG00000120896	ENST00000240123;ENST00000523402	T	0.09630	2.96	5.02	5.02	0.67125	Sorbin-like (3);	0.000000	0.42548	D	0.000681	T	0.26304	0.0642	L	0.44542	1.39	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.00553	-1.1674	10	0.72032	D	0.01	-26.2719	15.6062	0.76672	0.0:0.0:1.0:0.0	.	148	O60504	VINEX_HUMAN	Q	148	ENSP00000240123:R148Q	ENSP00000240123:R148Q	R	+	2	0	SORBS3	22471615	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.259000	0.58828	2.478000	0.83669	0.561000	0.74099	CGG		0.517	SORBS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254647.3	NM_005775		26	80	0	0	0	1	0	26	80					A	22415670	G	A	22415670	3	1	305	1	0	0	0	0	1	0	0	0	14929	1116	39	2	457	2	SORBS3	8	22415670	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	275078	22415670	123948352	476	14993											
KIAA1967	57805	broad.mit.edu	37	chr8	22472378	22472378	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tgggcaggaaagaagaggagGcagtgctggttgggggtgaa	11	6	21	3	0	0	3	0	1	0	2	0	5	0	5	0	7	1	4	0	7	3	1			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr8:22472378G>A	ENST00000308511.4	+	11	1318	c.1069G>A	c.(1069-1071)Gca>Aca	p.A357T	RP11-582J16.5_ENST00000521025.1_RNA|CCAR2_ENST00000389279.3_Missense_Mutation_p.A357T|CCAR2_ENST00000520861.1_Missense_Mutation_p.A32T			Q8N163	CCAR2_HUMAN	cell cycle and apoptosis regulator 2	357					cell cycle (GO:0007049)|cellular response to DNA damage stimulus (GO:0006974)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|mRNA processing (GO:0006397)|negative regulation of catalytic activity (GO:0043086)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902230)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA damage checkpoint (GO:2000003)|regulation of circadian rhythm (GO:0042752)|regulation of DNA-templated transcription, elongation (GO:0032784)|regulation of protein stability (GO:0031647)|response to UV (GO:0009411)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|DBIRD complex (GO:0044609)|mitochondrial matrix (GO:0005759)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|poly(A) RNA binding (GO:0044822)|RNA polymerase II core binding (GO:0000993)										AGAAGAGGAGGCAGTGCTGGT	0.587																																						ENST00000308511.4																			0				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(3)|ovary(1)|skin(5)	25						c.(1069-1071)Gca>Aca									52	49	50					8																	22472378		2203	4300	6503	SO:0001583	missense	0				apoptosis|positive regulation of apoptosis	mitochondrial matrix|nucleus	enzyme binding|enzyme inhibitor activity	g.chr8:22472378G>A	AL834351	CCDS34863.1	8p22	2013-08-22	2013-08-22	2013-08-22		ENSG00000158941			23360	protein-coding gene	gene with protein product	"deleted in breast cancer"	607359	"KIAA1967"	KIAA1967		12370419	Standard	NM_021174		Approved	DBC-1, DBC1, NET35	uc003xci.3	Q8N163		ENST00000308511.4:c.1069G>A	8.37:g.22472378G>A	ENSP00000310670:p.Ala357Thr					RP11-582J16.5_ENST00000521025.1_RNA|KIAA1967_ENST00000389279.3_Missense_Mutation_p.A357T|KIAA1967_ENST00000520861.1_Missense_Mutation_p.A32T	p.A357T			Q8N163	K1967_HUMAN		BRCA - Breast invasive adenocarcinoma(99;0.00593)|Colorectal(74;0.0157)|COAD - Colon adenocarcinoma(73;0.064)	11	1318	+		Prostate(55;0.0421)|Breast(100;0.102)|all_epithelial(46;0.142)	357					A6NL03|B2RB79|D3DSR6|Q6P0Q9|Q8N3G7|Q8N8M1|Q8TF34|Q9H9Q9|Q9HD12|Q9NT55	Missense_Mutation	SNP	ENST00000308511.4	37	c.1069G>A	CCDS34863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.63|14.63	2.592564|2.592564	0.46214|0.46214	.|.	.|.	ENSG00000158941|ENSG00000253200	ENST00000308511;ENST00000389279;ENST00000520861;ENST00000522599|ENST00000521025	T;T;T;T|.	0.41758|.	0.99;0.99;0.99;0.99|.	5.53|5.53	5.53|5.53	0.82687|0.82687	.|.	0.282047|0.282047	0.30752|0.30752	N|N	0.008944|0.008944	T|T	0.45377|0.45377	0.1339|0.1339	N|N	0.13098|0.13098	0.295|0.295	0.41034|0.41034	D|D	0.985174|0.985174	B;B|.	0.33807|.	0.013;0.426|.	B;B|.	0.35655|.	0.009;0.207|.	T|T	0.50276|0.50276	-0.8847|-0.8847	10|7	0.23891|0.87932	T|D	0.37|0	-7.9196|-7.9196	12.3238|12.3238	0.54999|0.54999	0.08:0.0:0.92:0.0|0.08:0.0:0.92:0.0	.|.	32;357|.	G3V119;Q8N163|.	.;K1967_HUMAN|.	T|V	357;357;32;175|38	ENSP00000310670:A357T;ENSP00000373930:A357T;ENSP00000429773:A32T;ENSP00000429739:A175T|.	ENSP00000310670:A357T|ENSP00000429254:A38V	A|A	+|-	1|2	0|0	KIAA1967|RP11-582J16.5	22528323|22528323	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.831000|0.831000	0.47069|0.47069	6.246000|6.246000	0.72405|0.72405	2.882000|2.882000	0.98803|0.98803	0.655000|0.655000	0.94253|0.94253	GCA|GCC		0.587	CCAR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375865.1	NM_021174		5	53	0	0	0	1	0	5	53					A	22472378	G	A	22472378	3	1	305	1	0	0	0	0	1	0	0	0	8265	1203	42	3	1107	3	KIAA1967	8	22472378	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	56708	22472378	123891644	477	14994											
TNFRSF10B	8795	broad.mit.edu	37	chr8	22884792	22884792	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	attgtcctcagccccaggtcGttgtgagctctggaaaaaga	10	10	11	10	1	2	2	1	1	1	1	4	3	3	3	3	2	2	2	3	2	2	2	rs138183043		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr8:22884792G>A	ENST00000276431.4	-	7	1074	c.790C>T	c.(790-792)Cga>Tga	p.R264*	TNFRSF10B_ENST00000347739.3_Nonsense_Mutation_p.R235*|TNFRSF10B_ENST00000542226.1_Nonsense_Mutation_p.R84*|TNFRSF10B_ENST00000519910.1_5'Flank	NM_003842.4|NM_147187.2	NP_003833.4|NP_671716.2	O14763	TR10B_HUMAN	tumor necrosis factor receptor superfamily, member 10b	264					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of NF-kappaB-inducing kinase activity (GO:0007250)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cell surface receptor signaling pathway (GO:0007166)|cellular response to mechanical stimulus (GO:0071260)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|regulation of apoptotic process (GO:0042981)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|response to endoplasmic reticulum stress (GO:0034976)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)|TRAIL binding (GO:0045569)			NS(1)|endometrium(2)|large_intestine(7)|liver(1)|lung(3)|skin(1)	15		Prostate(55;0.0421)|Breast(100;0.067)		Colorectal(74;0.0179)|COAD - Colon adenocarcinoma(73;0.0703)		GCCCCAGGTCGTTGTGAGCTC	0.567																																					GBM(94;1064 1342 1839 21060 42553)	ENST00000276431.4																			0				NS(1)|endometrium(2)|large_intestine(7)|liver(1)|lung(3)|skin(1)	15						c.(790-792)Cga>Tga		tumor necrosis factor receptor superfamily, member 10b		G	stop/ARG,stop/ARG	0,4406		0,0,2203	68	66	67		790,703	-0.2	0	8	dbSNP_134	67	1,8599	1.2+/-3.3	0,1,4299	no	stop-gained,stop-gained	TNFRSF10B	NM_003842.4,NM_147187.2	,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,	264/441,235/412	22884792	1,13005	2203	4300	6503	SO:0001587	stop_gained	8795				activation of NF-kappaB-inducing kinase activity|activation of pro-apoptotic gene products|cell surface receptor linked signaling pathway|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors|positive regulation of I-kappaB kinase/NF-kappaB cascade	plasma membrane	caspase activator activity|receptor activity|TRAIL binding	g.chr8:22884792G>A	AF012628	CCDS6035.1, CCDS6036.1	8p22-p21	2006-02-22			ENSG00000120889	ENSG00000120889		"Tumor necrosis factor receptor superfamily", "CD molecules"	11905	protein-coding gene	gene with protein product		603612				9285725, 9311998	Standard	NM_003842		Approved	DR5, KILLER, TRICK2A, TRAIL-R2, TRICKB, CD262	uc003xcu.2	O14763	OTTHUMG00000097826	ENST00000276431.4:c.790C>T	8.37:g.22884792G>A	ENSP00000276431:p.Arg264*					TNFRSF10B_ENST00000542226.1_Nonsense_Mutation_p.R84*|TNFRSF10B_ENST00000347739.3_Nonsense_Mutation_p.R235*	p.R264*	NM_003842.4|NM_147187.2	NP_003833.4|NP_671716.2	O14763	TR10B_HUMAN		Colorectal(74;0.0179)|COAD - Colon adenocarcinoma(73;0.0703)	7	1074	-		Prostate(55;0.0421)|Breast(100;0.067)	264					O14720|O15508|O15517|O15531|Q6UXM8|Q7Z360|Q9BVE0	Nonsense_Mutation	SNP	ENST00000276431.4	37	c.790C>T	CCDS6035.1	.	.	.	.	.	.	.	.	.	.	g	16.59	3.166475	0.57476	0.0	1.16E-4	ENSG00000120889	ENST00000276431;ENST00000347739;ENST00000542226	.	.	.	1.77	-0.235	0.13071	.	9.625390	0.01527	U	0.018637	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.14252	T	0.57	.	3.0633	0.06206	0.0:0.5031:0.2997:0.1973	.	.	.	.	X	264;235;84	.	ENSP00000276431:R264X	R	-	1	2	TNFRSF10B	22940737	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-0.181000	0.09740	-0.081000	0.12662	-0.226000	0.12346	CGA		0.567	TNFRSF10B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000215099.2	NM_147187		7	70	0	0	0	1	0	7	70					A	22884792	G	A	22884792	4	1	305	1	0	0	0	0	0	1	0	0	16278	1153	40	1	544	1	TNFRSF10B	8	22884792	Nonsense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	412414	22884792	123479230	478	14995											
TMEM66	51669	broad.mit.edu	37	chr8	29921408	29921408	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	actccaactttctactttatCgtctcctggtaccaccatat	9	15	3	14	1	2	0	0	0	2	0	5	0	3	0	4	1	3	1	4	1	5	6	rs367575463		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr8:29921408C>T	ENST00000256255.6	-	6	1273	c.1016G>A	c.(1015-1017)cGa>cAa	p.R339Q	TMEM66_ENST00000536273.1_Missense_Mutation_p.R167Q|TMEM66_ENST00000545648.1_Missense_Mutation_p.R167Q	NM_016127.4	NP_057211.4	Q96BY9	SARAF_HUMAN		339					calcium ion transport (GO:0006816)|regulation of store-operated calcium entry (GO:2001256)	integral component of endoplasmic reticulum membrane (GO:0030176)				endometrium(2)|large_intestine(1)|lung(11)	14				KIRC - Kidney renal clear cell carcinoma(542;0.0993)|Kidney(114;0.119)		TCTACTTTATCGTCTCCTGGT	0.313																																						ENST00000256255.6																			0				endometrium(2)|large_intestine(1)|lung(11)	14						c.(1015-1017)cGa>cAa		transmembrane protein 66							126	127	127					8																	29921408		2203	4300	6503	SO:0001583	missense	51669					integral to membrane		g.chr8:29921408C>T																												ENST00000256255.6:c.1016G>A	8.37:g.29921408C>T	ENSP00000256255:p.Arg339Gln					TMEM66_ENST00000545648.1_Missense_Mutation_p.R167Q|TMEM66_ENST00000536273.1_Missense_Mutation_p.R167Q	p.R339Q	NM_016127.4	NP_057211.4	Q96BY9	TMM66_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.0993)|Kidney(114;0.119)	6	1273	-			339					B3KQQ4|B7Z9J1|D3DSU7|H9MHJ8|H9MHJ9|Q53HE8|Q9UNZ3|Q9Y683	Missense_Mutation	SNP	ENST00000256255.6	37	c.1016G>A	CCDS6074.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.321290	0.81580	.	.	ENSG00000133872	ENST00000256255;ENST00000545648;ENST00000541035;ENST00000536273;ENST00000523127	T;T;T;T	0.59906	0.23;0.23;0.23;0.23	4.1	4.1	0.47936	.	0.165418	0.50627	D	0.000115	T	0.77618	0.4157	M	0.89478	3.035	0.50171	D	0.999852	D	0.89917	1.0	D	0.81914	0.995	T	0.81497	-0.0906	10	0.87932	D	0	.	12.1299	0.53936	0.0:1.0:0.0:0.0	.	339	Q96BY9	TMM66_HUMAN	Q	339;167;303;167;213	ENSP00000256255:R339Q;ENSP00000441351:R167Q;ENSP00000441723:R167Q;ENSP00000428323:R213Q	ENSP00000256255:R339Q	R	-	2	0	TMEM66	30040950	1.000000	0.71417	1.000000	0.80357	0.927000	0.56198	2.944000	0.49034	2.567000	0.86603	0.655000	0.94253	CGA		0.313	TMEM66-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257254.4			21	41	0	0	0	1	0	21	41					T	29921408	C	T	29921408	3	4	305	1	0	0	0	0	1	0	0	0	16192	884	31	2	7	2	TMEM66	8	29921408	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	7036616	29921408	116442614	479	14996											
RAB11FIP1	80223	broad.mit.edu	37	chr8	37730604	37730604	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tcagaggggacagatgcctgGccagagctagaaggaagagg	13	4	17	7	0	1	5	1	0	0	5	1	7	1	7	2	5	2	1	2	5	3	1			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr8:37730604G>A	ENST00000330843.4	-	4	1728	c.1716C>T	c.(1714-1716)ggC>ggT	p.G572G	RAB11FIP1_ENST00000287263.4_Intron|RAB11FIP1_ENST00000522727.1_Intron|RAB11FIP1_ENST00000524118.1_Intron|RAB11FIP1_ENST00000523182.1_5'UTR	NM_001002814.2	NP_001002814.2	Q6WKZ4	RFIP1_HUMAN	RAB11 family interacting protein 1 (class I)	572	Ser-rich.				protein transport (GO:0015031)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)				NS(1)|breast(1)|central_nervous_system(4)|endometrium(3)|large_intestine(6)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	49		Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;3.62e-11)			CAGATGCCTGGCCAGAGCTAG	0.557																																						ENST00000330843.4																			0				NS(1)|breast(1)|central_nervous_system(4)|endometrium(3)|large_intestine(6)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	49						c.(1714-1716)ggC>ggT		RAB11 family interacting protein 1 (class I)							65	58	61					8																	37730604		2203	4300	6503	SO:0001819	synonymous_variant	80223				protein transport	centrosome|phagocytic vesicle membrane|recycling endosome	protein binding	g.chr8:37730604G>A	AK092296	CCDS34881.1, CCDS34882.1	8p11.22	2005-10-04			ENSG00000156675	ENSG00000156675			30265	protein-coding gene	gene with protein product		608737				11786538, 11495908	Standard	NM_001002814		Approved	RCP, FLJ22622, FLJ22524, Rab11-FIP1	uc003xkm.2	Q6WKZ4	OTTHUMG00000164026	ENST00000330843.4:c.1716C>T	8.37:g.37730604G>A						RAB11FIP1_ENST00000524118.1_Intron|RAB11FIP1_ENST00000523182.1_5'UTR|RAB11FIP1_ENST00000522727.1_Intron|RAB11FIP1_ENST00000287263.4_Intron	p.G572G	NM_001002814.2	NP_001002814.2	Q6WKZ4	RFIP1_HUMAN	LUSC - Lung squamous cell carcinoma(8;3.62e-11)		4	1728	-		Lung NSC(58;0.118)|all_lung(54;0.195)	572			Ser-rich.		J3KNP0|Q307T1|Q6AZK4|Q6WKZ2|Q6WKZ6|Q86YV4|Q8TDL1|Q9H642	Silent	SNP	ENST00000330843.4	37	c.1716C>T	CCDS34882.1																																																																																				0.557	RAB11FIP1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000376816.1	NM_025151		29	87	0	0	0	1	0	29	87					A	37730604	G	A	37730604	2	1	305	1	0	0	0	0	0	0	0	1	12893	1190	42	3		3	RAB11FIP1	8	37730604	Silent	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	7809196	37730604	108633418	480	14997											
AGPAT6	137964	broad.mit.edu	37	chr8	41456800	41456800	+	Frame_Shift_Del	DEL	A	A	-																															gtatccgcaaactctacatgAaaagtctgttaaaaatcttt																										TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr8:41456800delA	ENST00000396987.3	+	2	1069	c.142delA	c.(142-144)aaafs	p.K48fs		NM_178819.3	NP_848934.1	Q86UL3	GPAT4_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 6	48					acyl-CoA metabolic process (GO:0006637)|CDP-diacylglycerol biosynthetic process (GO:0016024)|cellular lipid metabolic process (GO:0044255)|diacylglycerol metabolic process (GO:0046339)|fatty acid metabolic process (GO:0006631)|glandular epithelial cell maturation (GO:0002071)|glycerophospholipid biosynthetic process (GO:0046474)|lactation (GO:0007595)|lipid biosynthetic process (GO:0008610)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	glycerol-3-phosphate O-acyltransferase activity (GO:0004366)			endometrium(3)|kidney(2)|large_intestine(3)|lung(6)	14	Ovarian(28;0.00769)|Colorectal(14;0.0202)|Lung SC(25;0.211)	all_lung(54;0.0131)|Lung NSC(58;0.0363)|Hepatocellular(245;0.0462)|Esophageal squamous(32;0.0844)	OV - Ovarian serous cystadenocarcinoma(14;0.00126)|Colorectal(10;0.0014)|Lung(22;0.00177)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0147)			ACTCTACATGAAAAGTCTGTT	0.428																																						ENST00000396987.3																			0				endometrium(3)|kidney(2)|large_intestine(3)|lung(6)	14						c.(142-144)aafs		1-acylglycerol-3-phosphate O-acyltransferase 6							122	116	118					8																	41456800		2203	4300	6503	SO:0001589	frameshift_variant	137964				acyl-CoA metabolic process|lactation|phosphatidylcholine biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|membrane fraction	glycerol-3-phosphate O-acyltransferase activity	g.chr8:41456800delA	AF406612	CCDS6117.1	8p11.21	2013-02-05	2013-02-05			ENSG00000158669	2.3.1.15	"1-acylglycerol-3-phosphate O-acyltransferases"	20880	protein-coding gene	gene with protein product	"lysophosphatidic acid acyltransferase, zeta"	608143	"1-acylglycerol-3-phosphate O-acyltransferase 6 (lysophosphatidic acid acyltransferase, zeta)"			12938015	Standard	NM_178819		Approved	DKFZp586M1819, LPAAT-zeta	uc003xnz.2	Q86UL3		ENST00000396987.3:c.142delA	8.37:g.41456800delA	ENSP00000380184:p.Lys48fs						p.K48fs	NM_178819.3	NP_848934.1	Q86UL3	GPAT4_HUMAN	OV - Ovarian serous cystadenocarcinoma(14;0.00126)|Colorectal(10;0.0014)|Lung(22;0.00177)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0147)		2	1069	+	Ovarian(28;0.00769)|Colorectal(14;0.0202)|Lung SC(25;0.211)	all_lung(54;0.0131)|Lung NSC(58;0.0363)|Hepatocellular(245;0.0462)|Esophageal squamous(32;0.0844)	48					Q86V89	Frame_Shift_Del	DEL	ENST00000396987.3	37	c.142delA	CCDS6117.1																																																																																				0.428	AGPAT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377158.1	NM_178819		33	91						33	91	---	---	---	---	-	41456800	A	-	41456800	7	5	305	1	0	1	0	1	0	0	0	0	391	247	9	0	144	0	AGPAT6	8	41456800	Frame_Shift_Del	DEL	A	TCGA-KK-A59V-01A-11D-A29Q-08	3726196	41456800	104907222	481	14998											
CHRNA6	8973	broad.mit.edu	37	chr8	42611381	42611381	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatgttcaacacaaacacagTcaccacgatggacagtgtga	15	8	8	10	1	2	1	2	1	0	0	2	3	2	2	1	1	2	1	1	1	3	2			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr8:42611381T>C	ENST00000276410.2	-	5	1316	c.961A>G	c.(961-963)Act>Gct	p.T321A	CHRNA6_ENST00000534622.1_Missense_Mutation_p.T306A|CHRNA6_ENST00000530869.1_5'Flank	NM_004198.3	NP_004189.1	Q15825	ACHA6_HUMAN	cholinergic receptor, nicotinic, alpha 6 (neuronal)	321					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|membrane depolarization (GO:0051899)|regulation of dopamine secretion (GO:0014059)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transport (GO:0006810)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)			endometrium(2)|large_intestine(3)|liver(1)|lung(15)|ovary(1)	22	all_lung(13;3.33e-12)|Lung NSC(13;9.17e-11)|Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00439)|Lung NSC(58;0.0124)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	Lung(22;0.0252)|LUSC - Lung squamous cell carcinoma(45;0.0869)		Galantamine(DB00674)|Nicotine(DB00184)|Varenicline(DB01273)	ACAAACACAGTCACCACGATG	0.537																																						ENST00000276410.2																			0				endometrium(2)|large_intestine(3)|liver(1)|lung(15)|ovary(1)	22						c.(961-963)Act>Gct		cholinergic receptor, nicotinic, alpha 6 (neuronal)							103	90	94					8																	42611381		2203	4300	6503	SO:0001583	missense	8973					cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity	g.chr8:42611381T>C	U62435	CCDS6135.1, CCDS56536.1	8p22	2012-02-11	2012-02-07					"Cholinergic receptors", "Ligand-gated ion channels / Acetylcholine receptors, nicotinic"	15963	protein-coding gene	gene with protein product	"acetylcholine receptor, nicotinic, alpha 6 (neuronal)"	606888	"cholinergic receptor, nicotinic, alpha polypeptide 6"			8906617	Standard	NM_004198		Approved		uc003xpj.3	Q15825		ENST00000276410.2:c.961A>G	8.37:g.42611381T>C	ENSP00000276410:p.Thr321Ala					CHRNA6_ENST00000534622.1_Missense_Mutation_p.T306A	p.T321A	NM_004198.3	NP_004189.1	Q15825	ACHA6_HUMAN	Lung(22;0.0252)|LUSC - Lung squamous cell carcinoma(45;0.0869)		5	1316	-	all_lung(13;3.33e-12)|Lung NSC(13;9.17e-11)|Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00439)|Lung NSC(58;0.0124)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	321					B2R8V4|B4DQH1	Missense_Mutation	SNP	ENST00000276410.2	37	c.961A>G	CCDS6135.1	.	.	.	.	.	.	.	.	.	.	T	27.1	4.800686	0.90538	.	.	ENSG00000147434	ENST00000276410;ENST00000534622	D;D	0.83992	-1.79;-1.79	5.97	5.97	0.96955	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.000000	0.85682	D	0.000000	D	0.91761	0.7394	M	0.88979	2.995	0.80722	D	1	D;P	0.54964	0.969;0.939	P;P	0.61592	0.891;0.891	D	0.93123	0.6526	10	0.87932	D	0	.	16.4473	0.83942	0.0:0.0:0.0:1.0	.	306;321	B4DQH1;Q15825	.;ACHA6_HUMAN	A	321;306	ENSP00000276410:T321A;ENSP00000433871:T306A	ENSP00000276410:T321A	T	-	1	0	CHRNA6	42730538	1.000000	0.71417	0.999000	0.59377	0.974000	0.67602	7.967000	0.87967	2.281000	0.76405	0.533000	0.62120	ACT		0.537	CHRNA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383156.1			6	98	0	0	0	1	0	6	98					C	42611381	T	C	42611381	3	2	305	1	0	0	0	0	1	0	0	0	3387	1667	58	4	531	4	CHRNA6	8	42611381	Missense_Mutation	SNP	T	TCGA-KK-A59V-01A-11D-A29Q-08	1154581	42611381	103752641	482	14999											
PRKDC	5591	broad.mit.edu	37	chr8	48744475	48744475	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagtcgtagtaggtccgtcCggccggccgcacctggagag	6	6	16	13	5	0	1	0	0	0	1	3	2	2	1	5	4	0	4	5	4	2	2			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr8:48744475C>T	ENST00000314191.2	-	61	8218	c.8162G>A	c.(8161-8163)cGg>cAg	p.R2721Q	PRKDC_ENST00000338368.3_Missense_Mutation_p.R2721Q|PRKDC_ENST00000523565.1_5'UTR	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	2722	KIP-binding.				B cell lineage commitment (GO:0002326)|brain development (GO:0007420)|cellular protein modification process (GO:0006464)|cellular response to insulin stimulus (GO:0032869)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|ectopic germ cell programmed cell death (GO:0035234)|heart development (GO:0007507)|immunoglobulin V(D)J recombination (GO:0033152)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of protein phosphorylation (GO:0001933)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|pro-B cell differentiation (GO:0002328)|protein destabilization (GO:0031648)|regulation of circadian rhythm (GO:0042752)|response to gamma radiation (GO:0010332)|rhythmic process (GO:0048511)|signal transduction involved in mitotic G1 DNA damage checkpoint (GO:0072431)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell receptor V(D)J recombination (GO:0033153)|telomere maintenance (GO:0000723)	cytosol (GO:0005829)|DNA-dependent protein kinase-DNA ligase 4 complex (GO:0005958)|membrane (GO:0016020)|nonhomologous end joining complex (GO:0070419)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transcription factor binding (GO:0008134)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)			Caffeine(DB00201)	TAGGTCCGTCCGGCCGGCCGC	0.567								Non-homologous end-joining																													Esophageal Squamous(79;1091 1253 12329 31680 40677)	ENST00000314191.2																			0				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147						c.(8161-8163)cGg>cAg	Non-homologous end-joining	protein kinase, DNA-activated, catalytic polypeptide							137	141	140					8																	48744475		1962	4151	6113	SO:0001583	missense	5591				cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding	g.chr8:48744475C>T		CCDS75734.1, CCDS75735.1	8q11	2014-09-17				ENSG00000253729	2.7.11.1		9413	protein-coding gene	gene with protein product		600899		HYRC, HYRC1		7638222	Standard	NM_001081640		Approved	DNPK1, p350, DNAPK, XRCC7, DNA-PKcs	uc003xqi.3	P78527		ENST00000314191.2:c.8162G>A	8.37:g.48744475C>T	ENSP00000313420:p.Arg2721Gln					PRKDC_ENST00000523565.1_5'UTR|PRKDC_ENST00000338368.3_Missense_Mutation_p.R2721Q	p.R2721Q	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN			61	8218	-		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)	2722			KIP-binding.		P78528|Q13327|Q13337|Q14175|Q59H99|Q7Z611|Q96SE6|Q9UME3	Missense_Mutation	SNP	ENST00000314191.2	37	c.8162G>A		.	.	.	.	.	.	.	.	.	.	C	10.55	1.382937	0.25031	.	.	ENSG00000253729	ENST00000314191;ENST00000338368	T;T	0.02812	4.22;4.15	5.41	3.58	0.41010	.	0.217678	0.39759	N	0.001273	T	0.02455	0.0075	L	0.33189	0.99	0.36949	D	0.89278	B;B	0.32396	0.369;0.202	B;B	0.19391	0.025;0.025	T	0.56232	-0.8013	10	0.27785	T	0.31	.	11.6941	0.51534	0.0:0.8529:0.0:0.1471	.	2721;2722	E7EUY0;P78527	.;PRKDC_HUMAN	Q	2721	ENSP00000313420:R2721Q;ENSP00000345182:R2721Q	ENSP00000313420:R2721Q	R	-	2	0	PRKDC	48907028	0.974000	0.33945	0.011000	0.14972	0.001000	0.01503	3.366000	0.52343	0.744000	0.32741	0.655000	0.94253	CGG		0.567	PRKDC-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001081640		7	208	0	0	0	1	0	7	208					T	48744475	C	T	48744475	3	4	305	1	0	0	0	0	1	0	0	0	12521	652	23	2	4329	2	PRKDC	8	48744475	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	6133094	48744475	97619547	483	15000											
ST18	9705	broad.mit.edu	37	chr8	53073993	53073993	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgtatgagagggcgtttaccGaaaacttgggcatcaaaact	13	10	11	7	2	1	1	1	1	0	1	1	3	1	1	1	2	3	3	1	2	6	4			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr8:53073993G>A	ENST00000276480.7	-	14	2219	c.1536C>T	c.(1534-1536)ttC>ttT	p.F512F		NM_014682.2	NP_055497.1	O60284	ST18_HUMAN	suppression of tumorigenicity 18, zinc finger	512					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				GGCGTTTACCGAAAACTTGGG	0.438																																						ENST00000276480.7																			0				NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85						c.(1534-1536)ttC>ttT		suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein)							207	201	203					8																	53073993		2203	4300	6503	SO:0001819	synonymous_variant	9705					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:53073993G>A	AB011107	CCDS6149.1	8q11.23	2014-03-24	2014-03-24	2002-12-13	ENSG00000147488	ENSG00000147488		"Zinc fingers, C2HC-type containing"	18695	protein-coding gene	gene with protein product	"neural zinc finger transcription factor 3"		"zinc finger protein 387", "suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein)"	ZNF387		15489893	Standard	NM_014682		Approved	KIAA0535, ZC2HC10, NZF3	uc003xra.2	O60284	OTTHUMG00000164233	ENST00000276480.7:c.1536C>T	8.37:g.53073993G>A							p.F512F	NM_014682.2	NP_055497.1	O60284	ST18_HUMAN			14	2219	-		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)	512					Q17RY1	Silent	SNP	ENST00000276480.7	37	c.1536C>T	CCDS6149.1																																																																																				0.438	ST18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377867.1			9	147	0	0	0	1	0	9	147					A	53073993	G	A	53073993	2	1	305	1	0	0	0	0	0	0	0	1	15211	1049	37	2		2	ST18	8	53073993	Silent	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	4329518	53073993	93290029	484	15001											
PREX2	80243	broad.mit.edu	37	chr8	69002947	69002947	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aggaagtacaggcggccaacGaaggtaagtggcccttcaga	13	5	14	9	2	1	1	1	0	0	1	1	3	1	2	2	5	2	2	2	5	5	3			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr8:69002947G>A	ENST00000288368.4	+	20	2524	c.2247G>A	c.(2245-2247)acG>acA	p.T749T	RP11-403D15.2_ENST00000526901.1_RNA|PREX2_ENST00000529398.1_3'UTR	NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2	749	PDZ 2. {ECO:0000255|PROSITE- ProRule:PRU00143}.				adult locomotory behavior (GO:0008344)|dendrite morphogenesis (GO:0048813)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|positive regulation of Rac GTPase activity (GO:0032855)		Rac GTPase activator activity (GO:0030675)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)	p.T749T(2)|p.K750*(2)		NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						GGCGGCCAACGAAGGTAAGTG	0.473																																						ENST00000288368.4																			4	Substitution - Nonsense(2)|Substitution - coding silent(2)	p.T749T(2)|p.K750*(2)	lung(4)	NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						c.(2245-2247)acG>acA		phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2							76	64	68					8																	69002947		2203	4300	6503	SO:0001819	synonymous_variant	80243				G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity	g.chr8:69002947G>A	AK024079	CCDS6201.1	8q13.1	2014-06-13	2008-09-15	2008-09-15	ENSG00000046889	ENSG00000046889		"Rho guanine nucleotide exchange factors"	22950	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 129"	612139	"DEP domain containing 2"	DEPDC2		15304342, 15304343	Standard	NM_024870		Approved	DEP.2, FLJ12987, P-REX2, PPP1R129	uc003xxv.1	Q70Z35	OTTHUMG00000164402	ENST00000288368.4:c.2247G>A	8.37:g.69002947G>A						PREX2_ENST00000529398.1_3'UTR|RP11-403D15.2_ENST00000526901.1_RNA	p.T749T	NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN			20	2524	+			749			PDZ 2.		B4DFX0|Q32KL0|Q32KL1|Q6R7Q3|Q6R7Q4|Q9H805|Q9H961	Silent	SNP	ENST00000288368.4	37	c.2247G>A	CCDS6201.1																																																																																				0.473	PREX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378620.1	NM_025170		19	43	0	0	0	1	0	19	43					A	69002947	G	A	69002947	2	1	305	1	0	0	0	0	0	0	0	1	12477	1045	37	2		2	PREX2	8	69002947	Silent	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	15928954	69002947	77361075	485	15002											
EYA1	2138	broad.mit.edu	37	chr8	72211430	72211430	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gagctgttataatactgtgcGtactgaccctggccaaaact	11	11	9	10	1	0	1	0	1	0	0	0	2	0	1	2	1	5	3	2	1	6	4	rs529483320		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr8:72211430G>A	ENST00000340726.3	-	9	1317	c.678C>T	c.(676-678)taC>taT	p.Y226Y	EYA1_ENST00000388740.3_Silent_p.Y193Y|EYA1_ENST00000388742.4_Silent_p.Y226Y|EYA1_ENST00000388741.2_Silent_p.Y192Y|EYA1_ENST00000419131.1_Silent_p.Y221Y|EYA1_ENST00000388743.2_Silent_p.Y225Y|EYA1_ENST00000303824.7_Silent_p.Y220Y	NM_000503.4	NP_000494.2	Q99502	EYA1_HUMAN	EYA transcriptional coactivator and phosphatase 1	226					anatomical structure morphogenesis (GO:0009653)|aorta morphogenesis (GO:0035909)|branching involved in ureteric bud morphogenesis (GO:0001658)|cellular protein localization (GO:0034613)|cochlea morphogenesis (GO:0090103)|double-strand break repair (GO:0006302)|embryonic skeletal system morphogenesis (GO:0048704)|establishment of mitotic spindle orientation (GO:0000132)|establishment or maintenance of apical/basal cell polarity (GO:0035088)|histone dephosphorylation (GO:0016576)|lung epithelial cell differentiation (GO:0060487)|metanephros development (GO:0001656)|middle ear morphogenesis (GO:0042474)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|neuron fate specification (GO:0048665)|otic vesicle morphogenesis (GO:0071600)|outer ear morphogenesis (GO:0042473)|outflow tract morphogenesis (GO:0003151)|pattern specification process (GO:0007389)|pharyngeal system development (GO:0060037)|positive regulation of DNA repair (GO:0045739)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of secondary heart field cardioblast proliferation (GO:0072513)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein sumoylation (GO:0016925)|regulation of neuron differentiation (GO:0045664)|response to ionizing radiation (GO:0010212)|semicircular canal morphogenesis (GO:0048752)|sensory perception of sound (GO:0007605)|striated muscle tissue development (GO:0014706)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein tyrosine phosphatase activity (GO:0004725)|RNA binding (GO:0003723)			NS(2)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(15)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	44	Breast(64;0.046)		Epithelial(68;0.0837)|all cancers(69;0.247)			AATACTGTGCGTACTGACCCT	0.453													G|||	1	0.000199681	8e-04	0	5008	,	,		17584	0		0	False		,,,				2504	0					ENST00000340726.3																			0				NS(2)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(15)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	44	GRCh37	CM994351	EYA1	M		c.(676-678)taC>taT		eyes absent homolog 1 (Drosophila)							258	218	232					8																	72211430		2203	4300	6503	SO:0001819	synonymous_variant	2138				double-strand break repair|histone dephosphorylation|positive regulation of DNA repair|protein sumoylation|regulation of transcription, DNA-dependent|response to ionizing radiation|sensory perception of sound|transcription, DNA-dependent	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity	g.chr8:72211430G>A	AJ000098	CCDS34906.1, CCDS34907.1, CCDS47873.1, CCDS75750.1	8q13.3	2014-06-19	2014-06-19		ENSG00000104313	ENSG00000104313		"Protein tyrosine phosphatases / Asp-based PTPs"	3519	protein-coding gene	gene with protein product		601653	"eyes absent (Drosophila) homolog 1", "eyes absent homolog 1 (Drosophila)"	BOR		9020840	Standard	XM_005251184		Approved		uc003xys.4	Q99502	OTTHUMG00000149894	ENST00000340726.3:c.678C>T	8.37:g.72211430G>A						EYA1_ENST00000388743.2_Silent_p.Y225Y|EYA1_ENST00000303824.7_Silent_p.Y220Y|EYA1_ENST00000388740.3_Silent_p.Y193Y|EYA1_ENST00000419131.1_Silent_p.Y221Y|EYA1_ENST00000388742.4_Silent_p.Y226Y|EYA1_ENST00000388741.2_Silent_p.Y192Y	p.Y226Y	NM_000503.4	NP_000494.2	Q99502	EYA1_HUMAN	Epithelial(68;0.0837)|all cancers(69;0.247)		9	1317	-	Breast(64;0.046)		226					A6NHQ0|G5E9R4|Q0P516|Q8WX80	Silent	SNP	ENST00000340726.3	37	c.678C>T	CCDS34906.1																																																																																				0.453	EYA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313788.2	NM_000503, NM_172060		36	98	0	0	0	1	0	36	98					A	72211430	G	A	72211430	2	1	305	1	0	0	0	0	0	0	0	1	5328	1140	40	1		1	EYA1	8	72211430	Silent	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	3208483	72211430	74152592	486	15003											
ZFHX4	79776	broad.mit.edu	37	chr8	77766738	77766738	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaccaattccttcactctccGttcttggaaaggcccatgga	10	11	7	13	1	3	0	1	0	2	0	5	2	4	2	4	3	1	1	4	3	3	4	rs373464374		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr8:77766738G>A	ENST00000521891.2	+	10	8029	c.7581G>A	c.(7579-7581)ccG>ccA	p.P2527P	ZFHX4_ENST00000455469.2_Silent_p.P2482P|ZFHX4_ENST00000050961.6_Silent_p.P2482P|ZFHX4_ENST00000518282.1_Silent_p.P2501P	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	2482					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			TTCACTCTCCGTTCTTGGAAA	0.507										HNSCC(33;0.089)																												ENST00000521891.2																			0				NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432						c.(7579-7581)ccG>ccA		zinc finger homeobox 4							158	158	158					8																	77766738		2024	4197	6221	SO:0001819	synonymous_variant	79776					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:77766738G>A		CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"Homeoboxes / ZF class"	30939	protein-coding gene	gene with protein product		606940	"zinc finger homeodomain 4"			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.7581G>A	8.37:g.77766738G>A		HNSCC(33;0.089)				ZFHX4_ENST00000455469.2_Silent_p.P2482P|ZFHX4_ENST00000518282.1_Silent_p.P2501P|ZFHX4_ENST00000050961.6_Silent_p.P2482P	p.P2527P	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.0895)		10	8029	+			2482					G3V138|Q18PS0|Q6ZN20	Silent	SNP	ENST00000521891.2	37	c.7581G>A	CCDS47878.2																																																																																				0.507	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	NM_024721		8	214	0	0	0	1	0	8	214					A	77766738	G	A	77766738	2	1	305	1	0	0	0	0	0	0	0	1	17632	1132	40	1		1	ZFHX4	8	77766738	Silent	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	5555308	77766738	68597284	487	15004											
CNBD1	168975	broad.mit.edu	37	chr8	88365930	88365930	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtcctttggtgagattagcGtccttcttcaagttcctttc	6	17	8	10	1	2	1	1	1	1	1	6	2	5	1	3	1	1	1	3	1	2	6	rs376314855		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr8:88365930G>A	ENST00000518476.1	+	10	1270	c.1219G>A	c.(1219-1221)Gtc>Atc	p.V407I		NM_173538.2	NP_775809.1	Q8NA66	CNBD1_HUMAN	cyclic nucleotide binding domain containing 1	407								p.V407I(1)		breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(4)|urinary_tract(1)	32						TGAGATTAGCGTCCTTCTTCA	0.323																																						ENST00000518476.1																			1	Substitution - Missense(1)	p.V407I(1)	prostate(1)	breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(4)|urinary_tract(1)	32						c.(1219-1221)Gtc>Atc		cyclic nucleotide binding domain containing 1		G	ILE/VAL	1,3681		0,1,1840	101	98	99		1219	2.7	0.4	8		99	2,8166		0,2,4082	no	missense	CNBD1	NM_173538.2	29	0,3,5922	AA,AG,GG		0.0245,0.0272,0.0253	benign	407/437	88365930	3,11847	1841	4084	5925	SO:0001583	missense	168975							g.chr8:88365930G>A	AK093121	CCDS55259.1	8q21.3	2005-08-09				ENSG00000176571			26663	protein-coding gene	gene with protein product							Standard	NM_173538		Approved	FLJ35802	uc003ydy.2	Q8NA66		ENST00000518476.1:c.1219G>A	8.37:g.88365930G>A	ENSP00000430073:p.Val407Ile						p.V407I	NM_173538.2	NP_775809.1	Q8NA66	CNBD1_HUMAN			10	1270	+			407						Missense_Mutation	SNP	ENST00000518476.1	37	c.1219G>A	CCDS55259.1	.	.	.	.	.	.	.	.	.	.	G	10.57	1.388099	0.25118	2.72E-4	2.45E-4	ENSG00000176571	ENST00000518476	D	0.92397	-3.03	4.98	2.73	0.32206	Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);Cyclic nucleotide-binding domain (2);	0.322185	0.21804	N	0.068869	T	0.75273	0.3827	N	0.11560	0.145	0.09310	N	1	P	0.36647	0.563	B	0.28011	0.085	T	0.69789	-0.5050	10	0.05351	T	0.99	-13.7869	6.2957	0.21085	0.2887:0.0:0.7113:0.0	.	407	Q8NA66	CNBD1_HUMAN	I	407	ENSP00000430073:V407I	ENSP00000430073:V407I	V	+	1	0	CNBD1	88435046	0.171000	0.23029	0.437000	0.26809	0.931000	0.56810	-0.057000	0.11768	0.288000	0.22398	0.555000	0.69702	GTC		0.323	CNBD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375113.2	NM_173538		19	52	0	0	0	1	0	19	52					A	88365930	G	A	88365930	3	1	305	1	0	0	0	0	1	0	0	0	3591	1145	40	1	1257	1	CNBD1	8	88365930	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	10599192	88365930	57998092	488	15005											
CDH17	1015	broad.mit.edu	37	chr8	95188892	95188892	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctccactataattccattagCgtccagggctgcaacctgat	10	11	7	13	1	0	1	0	1	0	0	3	1	3	1	4	1	3	2	4	1	4	4	rs201617285		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr8:95188892C>T	ENST00000027335.3	-	5	425	c.301G>A	c.(301-303)Gct>Act	p.A101T	CDH17_ENST00000441892.2_Missense_Mutation_p.A101T|CDH17_ENST00000450165.2_Missense_Mutation_p.A101T	NM_004063.3	NP_004054.3	Q12864	CAD17_HUMAN	cadherin 17, LI cadherin (liver-intestine)	101	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|oligopeptide transmembrane transport (GO:0035672)|oligopeptide transport (GO:0006857)|transport (GO:0006810)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|proton-dependent oligopeptide secondary active transmembrane transporter activity (GO:0005427)|transporter activity (GO:0005215)			NS(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(4)|stomach(2)	52	Breast(36;4.65e-06)		BRCA - Breast invasive adenocarcinoma(8;0.00691)			ATTCCATTAGCGTCCAGGGCT	0.453													C|||	1	0.000199681	0	0	5008	,	,		23245	0		0.001	False		,,,				2504	0					ENST00000027335.3																			0				NS(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(4)|stomach(2)	52						c.(301-303)Gct>Act		cadherin 17, LI cadherin (liver-intestine)							117	101	107					8																	95188892		2203	4300	6503	SO:0001583	missense	1015					integral to membrane	calcium ion binding	g.chr8:95188892C>T	X83228	CCDS6260.1	8q22.1	2010-01-26			ENSG00000079112	ENSG00000079112		"Cadherins / Major cadherins"	1756	protein-coding gene	gene with protein product		603017				9615235, 10191097	Standard	NM_004063		Approved	HPT-1, cadherin	uc003ygh.2	Q12864	OTTHUMG00000164391	ENST00000027335.3:c.301G>A	8.37:g.95188892C>T	ENSP00000027335:p.Ala101Thr					CDH17_ENST00000441892.2_Missense_Mutation_p.A101T|CDH17_ENST00000450165.2_Missense_Mutation_p.A101T	p.A101T	NM_004063.3	NP_004054.3	Q12864	CAD17_HUMAN	BRCA - Breast invasive adenocarcinoma(8;0.00691)		5	425	-	Breast(36;4.65e-06)		101			Cadherin 1.		Q15336|Q2M2E0	Missense_Mutation	SNP	ENST00000027335.3	37	c.301G>A	CCDS6260.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	9.184	1.024354	0.19433	.	.	ENSG00000079112	ENST00000027335;ENST00000441892;ENST00000450165;ENST00000521491	T;T;T;T	0.60920	0.15;4.2;0.15;0.65	5.93	2.98	0.34508	Cadherin (3);Cadherin-like (1);	0.382155	0.22553	N	0.058577	T	0.39835	0.1093	L	0.41906	1.305	0.22989	N	0.998469	B;D	0.54964	0.037;0.969	B;B	0.39258	0.012;0.295	T	0.27054	-1.0085	10	0.14656	T	0.56	-9.1321	7.9908	0.30239	0.2893:0.6313:0.0:0.0793	.	101;101	E7EN24;Q12864	.;CAD17_HUMAN	T	101	ENSP00000027335:A101T;ENSP00000392811:A101T;ENSP00000401468:A101T;ENSP00000428189:A101T	ENSP00000027335:A101T	A	-	1	0	CDH17	95258068	0.640000	0.27243	0.082000	0.20525	0.106000	0.19336	0.977000	0.29475	0.323000	0.23307	0.655000	0.94253	GCT		0.453	CDH17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378560.1	NM_004063		23	39	0	0	0	1	0	23	39					T	95188892	C	T	95188892	3	4	305	1	0	0	0	0	1	0	0	0	3102	768	27	1	2253	1	CDH17	8	95188892	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	6822962	95188892	51175130	489	15006											
MATN2	4147	broad.mit.edu	37	chr8	98943456	98943456	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaccatgactgggctggccAtccagtatgccctgaacatc	9	8	10	14	0	0	2	0	2	0	0	2	2	1	2	4	2	2	3	4	2	2	1			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr8:98943456A>G	ENST00000520016.1	+	2	542	c.418A>G	c.(418-420)Atc>Gtc	p.I140V	MATN2_ENST00000524308.1_Missense_Mutation_p.I140V|MATN2_ENST00000254898.5_Missense_Mutation_p.I140V|MATN2_ENST00000522025.2_Intron|MATN2_ENST00000521689.1_Missense_Mutation_p.I140V			O00339	MATN2_HUMAN	matrilin 2	140	VWFA 1. {ECO:0000255|PROSITE- ProRule:PRU00219}.					proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)			breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(17)|ovary(2)|urinary_tract(1)	31	Breast(36;1.43e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.244)			TGGGCTGGCCATCCAGTATGC	0.582																																						ENST00000254898.5																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(17)|ovary(2)|urinary_tract(1)	31						c.(418-420)Atc>Gtc		matrilin 2							42	47	45					8																	98943456		2097	4251	6348	SO:0001583	missense	4147					proteinaceous extracellular matrix	calcium ion binding	g.chr8:98943456A>G	U69263	CCDS55264.1, CCDS55265.1	8q22.1-q22.2	2008-05-15							6908	protein-coding gene	gene with protein product		602108				9083061, 11852232	Standard	XM_005250920		Approved		uc003yic.3	O00339		ENST00000520016.1:c.418A>G	8.37:g.98943456A>G	ENSP00000430487:p.Ile140Val					MATN2_ENST00000520016.1_Missense_Mutation_p.I140V|MATN2_ENST00000521689.1_Missense_Mutation_p.I140V|MATN2_ENST00000524308.1_Missense_Mutation_p.I140V|MATN2_ENST00000522025.2_Intron	p.I140V	NM_002380.3|NM_030583.2	NP_002371.3|NP_085072.2	O00339	MATN2_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.244)		3	649	+	Breast(36;1.43e-06)		140			VWFA 1.		A8K106|E7EW74|E9PD48|E9PGL2|Q6UWA5|Q7Z5X1|Q8NDE6|Q96FT5|Q9NSZ1	Missense_Mutation	SNP	ENST00000520016.1	37	c.418A>G	CCDS55264.1	.	.	.	.	.	.	.	.	.	.	A	19.94	3.920580	0.73213	.	.	ENSG00000132561	ENST00000521689;ENST00000254898;ENST00000378716;ENST00000524308;ENST00000520016	T;T;T;T	0.80033	-1.33;-1.33;-1.33;-1.33	5.97	3.49	0.39957	von Willebrand factor, type A (3);	0.000000	0.64402	D	0.000005	D	0.90167	0.6927	M	0.93462	3.42	0.39250	D	0.964019	P;P;P;P	0.48911	0.882;0.857;0.793;0.917	P;P;P;P	0.57057	0.812;0.714;0.553;0.684	D	0.91814	0.5462	10	0.66056	D	0.02	-16.659	13.5544	0.61751	0.6333:0.3667:0.0:0.0	.	140;140;140;140	E9PF03;O00339-2;O00339;Q8N2G3	.;.;MATN2_HUMAN;.	V	140	ENSP00000429977:I140V;ENSP00000254898:I140V;ENSP00000430221:I140V;ENSP00000430487:I140V	ENSP00000254898:I140V	I	+	1	0	MATN2	99012632	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.508000	0.45450	0.455000	0.26910	0.533000	0.62120	ATC		0.582	MATN2-004	KNOWN	non_canonical_conserved|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000380332.1			21	30	0	0	0	1	0	21	30					G	98943456	A	G	98943456	3	3	305	1	0	0	0	0	1	0	0	0	9334	217	8	4	424	4	MATN2	8	98943456	Missense_Mutation	SNP	A	TCGA-KK-A59V-01A-11D-A29Q-08	3754564	98943456	47420566	490	15007											
VPS13B	157680	broad.mit.edu	37	chr8	100887781	100887781	+	Frame_Shift_Del	DEL	C	C	-																															ctgtggtggctgcagaacctCccccctccactgttaaaaca																										TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr8:100887781delC	ENST00000358544.2	+	62	12067	c.11956delC	c.(11956-11958)cccfs	p.P3987fs	VPS13B_ENST00000357162.2_Frame_Shift_Del_p.P3962fs|VPS13B_ENST00000395996.1_3'UTR	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	3987					protein transport (GO:0015031)					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			TGCAGAACCTCCCCCCTCCAC	0.468																																					Colon(161;2205 2542 7338 31318)	ENST00000358544.2																			0				NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193						c.(11956-11958)ccfs		vacuolar protein sorting 13 homolog B (yeast)							148	127	134					8																	100887781		2203	4300	6503	SO:0001589	frameshift_variant	157680				protein transport			g.chr8:100887781delC	AJ608772	CCDS6280.1, CCDS6281.1, CCDS6283.1, CCDS47903.1	8q22-q23	2014-09-17	2006-12-19	2005-04-08	ENSG00000132549	ENSG00000132549			2183	protein-coding gene	gene with protein product		607817	"Cohen syndrome 1"	CHS1, COH1		7920642, 15498460	Standard	NM_181661		Approved		uc003yiv.4	Q7Z7G8	OTTHUMG00000140383	ENST00000358544.2:c.11956delC	8.37:g.100887781delC	ENSP00000351346:p.Pro3987fs					VPS13B_ENST00000357162.2_Frame_Shift_Del_p.P3962fs|VPS13B_ENST00000395996.1_3'UTR	p.P3987fs	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.00636)		62	12067	+	Breast(36;3.73e-07)		3987					C9JD30|Q709C6|Q709C7|Q7Z7G4|Q7Z7G5|Q7Z7G6|Q7Z7G7|Q8NB77|Q9NWV1|Q9Y4E7	Frame_Shift_Del	DEL	ENST00000358544.2	37	c.11956delC	CCDS6280.1																																																																																				0.468	VPS13B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000277138.1	NM_184042		40	100						40	100	---	---	---	---	-	100887781	C	-	100887781	7	5	305	1	0	1	0	1	0	0	0	0	17187	855	30	0	12392	0	VPS13B	8	100887781	Frame_Shift_Del	DEL	C	TCGA-KK-A59V-01A-11D-A29Q-08	1944325	100887781	45476241	491	15008											
ZFPM2	23414	broad.mit.edu	37	chr8	106814359	106814359	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ttagtggatggggaaagtgaCccaaataagactacctgtga	14	9	12	6	0	0	3	0	2	0	1	0	5	0	5	2	3	1	0	2	3	5	3			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr8:106814359C>T	ENST00000407775.2	+	8	2299	c.2049C>T	c.(2047-2049)gaC>gaT	p.D683D	ZFPM2_ENST00000378472.4_Silent_p.D414D|ZFPM2_ENST00000517361.1_Silent_p.D551D|ZFPM2_ENST00000522296.1_3'UTR|RP11-152P17.2_ENST00000520433.1_RNA|RP11-152P17.2_ENST00000521622.1_RNA|RP11-152P17.2_ENST00000524045.2_RNA|ZFPM2_ENST00000520492.1_Silent_p.D551D|RP11-152P17.2_ENST00000518932.1_RNA|RP11-152P17.2_ENST00000509144.2_RNA|RP11-152P17.2_ENST00000520594.1_RNA	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	zinc finger protein, FOG family member 2	683					blood coagulation (GO:0007596)|embryonic organ development (GO:0048568)|gonadal mesoderm development (GO:0007506)|in utero embryonic development (GO:0001701)|lung development (GO:0030324)|negative regulation of cell death (GO:0060548)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of female gonad development (GO:2000195)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract septum morphogenesis (GO:0003148)|positive regulation of male gonad development (GO:2000020)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|right ventricular cardiac muscle tissue morphogenesis (GO:0003221)|vasculogenesis (GO:0001570)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|nucleic acid binding transcription factor activity (GO:0001071)|RNA polymerase II transcription coactivator activity (GO:0001105)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			GGGAAAGTGACCCAAATAAGA	0.453																																						ENST00000407775.2																			0				NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99						c.(2047-2049)gaC>gaT		zinc finger protein, FOG family member 2							72	69	70					8																	106814359		1967	4144	6111	SO:0001819	synonymous_variant	23414				blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding	g.chr8:106814359C>T	AF119334	CCDS47908.1	8q23	2013-01-10	2012-11-27		ENSG00000169946	ENSG00000169946		"Zinc fingers, C2H2-type", "Zinc fingers, C2HC-type containing"	16700	protein-coding gene	gene with protein product		603693	"zinc finger protein, multitype 2"			9927675, 10438528	Standard	NM_012082		Approved	FOG2, hFOG-2, ZNF89B, ZC2HC11B	uc003ymd.3	Q8WW38	OTTHUMG00000164818	ENST00000407775.2:c.2049C>T	8.37:g.106814359C>T						ZFPM2_ENST00000520492.1_Silent_p.D551D|RP11-152P17.2_ENST00000520433.1_RNA|RP11-152P17.2_ENST00000509144.2_RNA|ZFPM2_ENST00000517361.1_Silent_p.D551D|RP11-152P17.2_ENST00000521622.1_RNA|RP11-152P17.2_ENST00000520594.1_RNA|ZFPM2_ENST00000522296.1_3'UTR|ZFPM2_ENST00000378472.4_Silent_p.D414D|RP11-152P17.2_ENST00000518932.1_RNA|RP11-152P17.2_ENST00000524045.2_RNA	p.D683D	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)		8	2299	+			683					Q32MA6|Q9NPL7|Q9NPS4|Q9UNI5	Silent	SNP	ENST00000407775.2	37	c.2049C>T	CCDS47908.1																																																																																				0.453	ZFPM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380614.1			3	38	0	0	0	1	0	3	38					T	106814359	C	T	106814359	2	4	305	1	0	0	0	0	0	0	0	1	17655	506	18	3		3	ZFPM2	8	106814359	Silent	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	5926578	106814359	39549663	492	15009											
EBAG9	9166	broad.mit.edu	37	chr8	110576705	110576705	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	acagagaaaagagagcagccGaacaacaaaggaagaaaatg	23	1	11	6	1	0	3	0	0	0	3	0	7	0	4	1	1	4	1	1	1	8	0	rs200319904	byFrequency	TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr8:110576705G>A	ENST00000337573.5	+	7	859	c.559G>A	c.(559-561)Gaa>Aaa	p.E187K	EBAG9_ENST00000395785.2_Missense_Mutation_p.E187K|EBAG9_ENST00000531677.1_Missense_Mutation_p.E232K	NM_001278938.1|NM_004215.3	NP_001265867.1|NP_004206.1	O00559	RCAS1_HUMAN	estrogen receptor binding site associated, antigen, 9	187					regulation of cell growth (GO:0001558)	focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)	peptidase activator activity involved in apoptotic process (GO:0016505)	p.E187K(2)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(2)	10			OV - Ovarian serous cystadenocarcinoma(57;1.39e-14)			GAGAGCAGCCGAACAACAAAG	0.333													G|||	2	0.000399361	8e-04	0	5008	,	,		18307	0.001		0	False		,,,				2504	0					ENST00000337573.5																			2	Substitution - Missense(2)	p.E187K(2)	large_intestine(2)	cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(2)	10						c.(559-561)Gaa>Aaa		estrogen receptor binding site associated, antigen, 9							147	149	148					8																	110576705		2203	4300	6503	SO:0001583	missense	9166				apoptosis|regulation of cell growth	focal adhesion|Golgi membrane|integral to membrane|soluble fraction	apoptotic protease activator activity	g.chr8:110576705G>A	AB007619	CCDS6313.1	8q23	2013-03-07			ENSG00000147654	ENSG00000147654			3123	protein-coding gene	gene with protein product		605772					Standard	NM_004215		Approved	EB9, RCAS1	uc003ynf.3	O00559	OTTHUMG00000165346	ENST00000337573.5:c.559G>A	8.37:g.110576705G>A	ENSP00000337675:p.Glu187Lys					EBAG9_ENST00000395785.2_Missense_Mutation_p.E187K|EBAG9_ENST00000531677.1_Missense_Mutation_p.E232K	p.E187K	NM_004215.3	NP_004206.1	O00559	RCAS1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;1.39e-14)		7	859	+			187					A8K3N6|Q5Y8C7|Q6IB20|Q9BS76	Missense_Mutation	SNP	ENST00000337573.5	37	c.559G>A	CCDS6313.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	21.7	4.189927	0.78789	.	.	ENSG00000147654	ENST00000395785;ENST00000337573;ENST00000530629;ENST00000531677	.	.	.	5.61	4.73	0.59995	.	0.000000	0.85682	D	0.000000	T	0.64091	0.2567	L	0.27053	0.805	0.80722	D	1	D	0.76494	0.999	D	0.76575	0.988	T	0.64841	-0.6312	9	0.40728	T	0.16	-12.9893	15.179	0.72938	0.0:0.0:0.8579:0.1421	.	187	O00559	RCAS1_HUMAN	K	187;187;187;232	.	ENSP00000337675:E187K	E	+	1	0	EBAG9	110645881	1.000000	0.71417	0.997000	0.53966	0.994000	0.84299	8.714000	0.91412	1.461000	0.47929	0.655000	0.94253	GAA		0.333	EBAG9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383536.1	NM_004215		28	72	0	0	0	1	0	28	72					A	110576705	G	A	110576705	3	1	305	1	0	0	0	0	1	0	0	0	4879	1059	37	2	581	2	EBAG9	8	110576705	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	3762346	110576705	35787317	493	15010											
TRPS1	7227	broad.mit.edu	37	chr8	116426269	116426270	+	Frame_Shift_Ins	INS	-	-	T																															tttactctttaggttttccaINStttttttccacttgtgcatt																										TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr8:116426269_116426270insT	ENST00000220888.5	-	6	3986_3987	c.3827_3828insA	c.(3826-3828)aatfs	p.N1276fs	TRPS1_ENST00000395715.3_Frame_Shift_Ins_p.N1289fs|TRPS1_ENST00000519076.1_Frame_Shift_Ins_p.N1030fs|TRPS1_ENST00000520276.1_Frame_Shift_Ins_p.N1280fs			Q9UHF7	TRPS1_HUMAN	trichorhinophalangeal syndrome I	1276	Transcriptional repressor domain. {ECO:0000250}.				chondrocyte differentiation (GO:0002062)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|NLS-bearing protein import into nucleus (GO:0006607)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|regulation of chondrocyte differentiation (GO:0032330)|regulation of histone deacetylation (GO:0031063)|skeletal system development (GO:0001501)|transcription from RNA polymerase II promoter (GO:0006366)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.N1289fs*>6(1)|p.N1276fs*>6(1)		autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	111	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)			TAGGTTTTCCATTTTTTTCCAC	0.381									Langer-Giedion syndrome																													ENST00000395715.3																			2	Deletion - Frameshift(2)	p.N1289fs*>6(1)|p.N1276fs*>6(1)	lung(2)	autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	111						c.(3865-3867)aggfs		trichorhinophalangeal syndrome I																																				SO:0001589	frameshift_variant	7227	Langer-Giedion syndrome	Familial Cancer Database	Trichorhinophalangeal syndrome type 2, TRPS II	negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:116426269_116426270insT	AF183810	CCDS6318.2, CCDS64957.1	8q23.3	2014-06-23			ENSG00000104447	ENSG00000104447		"GATA zinc finger domain containing", "Zinc fingers, C2H2-type"	12340	protein-coding gene	gene with protein product		604386				8530105, 10615131, 10647898	Standard	NM_001282903		Approved	LGCR	uc003yny.3	Q9UHF7	OTTHUMG00000142829	ENST00000220888.5:c.3828dupA	8.37:g.116426276_116426276dupT	ENSP00000220888:p.Asn1276fs					TRPS1_ENST00000520276.1_Frame_Shift_Ins_p.R1280fs|TRPS1_ENST00000220888.5_Frame_Shift_Ins_p.R1276fs|TRPS1_ENST00000519076.1_Frame_Shift_Ins_p.R1030fs	p.R1289fs	NM_014112.2	NP_054831.2	Q9UHF7	TRPS1_HUMAN	Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)		7	4443_4444	-	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		1276					B4E1Z5|Q08AU2|Q9NWE1|Q9UHH6	Frame_Shift_Ins	INS	ENST00000220888.5	37	c.3866_3867insA																																																																																					0.381	TRPS1-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000286436.3	NM_014112		38	110						38	110	---	---	---	---	T	116426270	-	T	116426269	7	5	305	1	0	1	1	0	0	0	0	0	16590	214	8	0	21	0	TRPS1	8	116426269	Frame_Shift_Ins	INS	-	TCGA-KK-A59V-01A-11D-A29Q-08	5849564	116426269	29937753	494	15011											
COL14A1	7373	broad.mit.edu	37	chr8	121216025	121216025	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctcatgtgtacaatgttgccGaattcgatctgatgcacaca	11	12	8	10	2	2	1	1	1	1	0	3	3	2	1	1	0	3	3	1	0	3	3			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr8:121216025G>A	ENST00000297848.3	+	9	1225	c.955G>A	c.(955-957)Gaa>Aaa	p.E319K	COL14A1_ENST00000247781.3_Missense_Mutation_p.E224K|COL14A1_ENST00000309791.4_Missense_Mutation_p.E319K|COL14A1_ENST00000432943.2_3'UTR|COL14A1_ENST00000537875.1_Missense_Mutation_p.E319K	NM_021110.1	NP_066933.1			collagen, type XIV, alpha 1											NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			CAATGTTGCCGAATTCGATCT	0.468																																						ENST00000297848.3																			0				NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119						c.(955-957)Gaa>Aaa		collagen, type XIV, alpha 1							138	117	124					8																	121216025		2203	4300	6503	SO:0001583	missense	7373				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging	g.chr8:121216025G>A		CCDS34938.1	8q23	2013-02-11	2008-02-04		ENSG00000187955	ENSG00000187955		"Collagens", "Fibronectin type III domain containing"	2191	protein-coding gene	gene with protein product		120324	"undulin"	UND		1716629, 9427527	Standard	NM_021110		Approved		uc003yox.4	Q05707	OTTHUMG00000149877	ENST00000297848.3:c.955G>A	8.37:g.121216025G>A	ENSP00000297848:p.Glu319Lys					COL14A1_ENST00000309791.4_Missense_Mutation_p.E319K|COL14A1_ENST00000537875.1_Missense_Mutation_p.E319K|COL14A1_ENST00000247781.3_Missense_Mutation_p.E224K|COL14A1_ENST00000432943.2_3'UTR	p.E319K	NM_021110.1	NP_066933.1	Q05707	COEA1_HUMAN	OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)		9	1225	+	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		319			VWFA 1.			Missense_Mutation	SNP	ENST00000297848.3	37	c.955G>A	CCDS34938.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	21.2|21.2	4.105780|4.105780	0.77096|0.77096	.|.	.|.	ENSG00000187955|ENSG00000187955	ENST00000537875;ENST00000309791;ENST00000297848;ENST00000247781;ENST00000434620|ENST00000523142	T;T;T;T;T|.	0.77877|.	-1.13;-1.13;-1.13;0.53;0.53|.	5.32|5.32	4.44|4.44	0.53790|0.53790	von Willebrand factor, type A (3);|.	0.050482|.	0.85682|.	D|.	0.000000|.	T|T	0.56016|0.56016	0.1957|0.1957	L|L	0.33189|0.33189	0.99|0.99	0.50467|0.50467	D|D	0.999878|0.999878	D|.	0.57571|.	0.98|.	B|.	0.43754|.	0.43|.	T|T	0.52793|0.52793	-0.8528|-0.8528	10|5	0.06757|.	T|.	0.87|.	.|.	15.7005|15.7005	0.77538|0.77538	0.0:0.0:0.8625:0.1375|0.0:0.0:0.8625:0.1375	.|.	319|.	Q05707|.	COEA1_HUMAN|.	K|Q	319;319;319;224;132|75	ENSP00000443974:E319K;ENSP00000311809:E319K;ENSP00000297848:E319K;ENSP00000247781:E224K;ENSP00000409461:E132K|.	ENSP00000247781:E224K|.	E|R	+|+	1|2	0|0	COL14A1|COL14A1	121285206|121285206	1.000000|1.000000	0.71417|0.71417	0.079000|0.079000	0.20413|0.20413	0.399000|0.399000	0.30720|0.30720	9.640000|9.640000	0.98453|0.98453	1.468000|1.468000	0.48064|0.48064	0.655000|0.655000	0.94253|0.94253	GAA|CGA		0.468	COL14A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313657.2	NM_021110		16	43	0	0	0	1	0	16	43					A	121216025	G	A	121216025	3	1	305	1	0	0	0	0	1	0	0	0	3671	1059	37	2	985	2	COL14A1	8	121216025	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	4789756	121216025	25147997	495	15012											
MTBP	27085	broad.mit.edu	37	chr8	121528318	121528318	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttccatctcctgtagtttcGtcagatcctggaagtgtccc	6	14	8	13	1	2	1	1	0	1	1	7	2	5	2	4	1	0	2	4	1	2	3	rs369409697		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr8:121528318G>A	ENST00000305949.1	+	18	2178	c.2133G>A	c.(2131-2133)tcG>tcA	p.S711S		NM_022045.4	NP_071328.2	Q96DY7	MTBP_HUMAN	MDM2 binding protein	711	Interaction with MDM2. {ECO:0000250}.				cell cycle arrest (GO:0007050)|mitotic spindle checkpoint (GO:0071174)|negative regulation of cell proliferation (GO:0008285)|protein localization to kinetochore (GO:0034501)|traversing start control point of mitotic cell cycle (GO:0007089)	chromatin (GO:0000785)|kinetochore (GO:0000776)				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	30	Lung NSC(37;5.68e-08)|Ovarian(258;0.00769)|all_neural(195;0.0804)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00503)			CTGTAGTTTCGTCAGATCCTG	0.423																																						ENST00000305949.1																			0				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	30						c.(2131-2133)tcG>tcA		Mdm2, transformed 3T3 cell double minute 2, p53 binding protein (mouse) binding protein, 104kDa		G		0,4406		0,0,2203	108	102	104		2133	1.8	0.3	8		104	1,8597	1.2+/-3.3	0,1,4298	no	coding-synonymous	MTBP	NM_022045.3		0,1,6501	AA,AG,GG		0.0116,0.0,0.0077		711/905	121528318	1,13003	2203	4299	6502	SO:0001819	synonymous_variant	27085				cell cycle arrest			g.chr8:121528318G>A		CCDS6333.1	8q24.1-q24.2	2014-03-03	2014-03-03		ENSG00000172167	ENSG00000172167			7417	protein-coding gene	gene with protein product		605927	"MDM2 (mouse double minute 2)-binding protein, 104kD", "Mdm2, transformed 3T3 cell double minute 2, p53 binding protein (mouse) binding protein, 104kDa"			10906133, 11060448	Standard	NM_022045		Approved		uc003ypc.2	Q96DY7	OTTHUMG00000165040	ENST00000305949.1:c.2133G>A	8.37:g.121528318G>A							p.S711S	NM_022045.3	NP_071328.2	Q96DY7	MTBP_HUMAN	STAD - Stomach adenocarcinoma(47;0.00503)		18	2178	+	Lung NSC(37;5.68e-08)|Ovarian(258;0.00769)|all_neural(195;0.0804)|Hepatocellular(40;0.161)		711			Interaction with MDM2 (By similarity).		B4DUR5|Q9HA89	Silent	SNP	ENST00000305949.1	37	c.2133G>A	CCDS6333.1																																																																																				0.423	MTBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381530.1	NM_022045		5	121	0	0	0	1	0	5	121					A	121528318	G	A	121528318	2	1	305	1	0	0	0	0	0	0	0	1	9912	1132	40	1		1	MTBP	8	121528318	Silent	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	312293	121528318	24835704	496	15013											
KCNQ3	3786	broad.mit.edu	37	chr8	133196530	133196530	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcaaacttcagtcggccccGccagcctttgtatcggcagc	7	8	11	15	3	1	0	1	0	0	0	3	0	1	0	4	3	3	3	4	3	2	3			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr8:133196530G>A	ENST00000388996.4	-	3	982	c.562C>T	c.(562-564)Cgg>Tgg	p.R188W	KCNQ3_ENST00000519445.1_Missense_Mutation_p.R188W|KCNQ3_ENST00000521134.1_Missense_Mutation_p.R68W	NM_004519.3	NP_004510.1	O43525	KCNQ3_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 3	188					axon guidance (GO:0007411)|membrane hyperpolarization (GO:0060081)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	axon initial segment (GO:0043194)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)	p.R188W(2)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	70	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)		Amitriptyline(DB00321)|Diclofenac(DB00586)|Ezogabine(DB04953)|Meclofenamic acid(DB00939)	AGTCGGCCCCGCCAGCCTTTG	0.537																																						ENST00000388996.4																			2	Substitution - Missense(2)	p.R188W(2)	large_intestine(1)|endometrium(1)	NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	70						c.(562-564)Cgg>Tgg		potassium voltage-gated channel, KQT-like subfamily, member 3							85	87	87					8																	133196530		2203	4300	6503	SO:0001583	missense	3786				axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr8:133196530G>A	AB208890	CCDS34943.1, CCDS56554.1	8q24	2012-07-05			ENSG00000184156	ENSG00000184156		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6297	protein-coding gene	gene with protein product		602232		EBN2		9425900, 16382104	Standard	NM_004519		Approved	Kv7.3	uc003ytj.3	O43525	OTTHUMG00000137472	ENST00000388996.4:c.562C>T	8.37:g.133196530G>A	ENSP00000373648:p.Arg188Trp					KCNQ3_ENST00000521134.1_Missense_Mutation_p.R68W|KCNQ3_ENST00000519445.1_Missense_Mutation_p.R188W	p.R188W	NM_004519.3	NP_004510.1	O43525	KCNQ3_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000311)		3	982	-	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		188					A2VCT8|B4DJY4|E7EQ89	Missense_Mutation	SNP	ENST00000388996.4	37	c.562C>T	CCDS34943.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.304080	0.81136	.	.	ENSG00000184156	ENST00000388996;ENST00000521134;ENST00000519445;ENST00000542679;ENST00000423790	D;D;D	0.97772	-4.53;-4.53;-4.53	5.87	2.71	0.32032	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.97820	0.9284	L	0.49699	1.58	0.51012	D	0.999905	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.97820	1.0256	10	0.87932	D	0	-24.2394	13.0159	0.58757	0.0:0.0:0.3351:0.6648	.	188;188	E7ET42;O43525	.;KCNQ3_HUMAN	W	188;68;188;177;67	ENSP00000373648:R188W;ENSP00000429799:R68W;ENSP00000428790:R188W	ENSP00000373648:R188W	R	-	1	2	KCNQ3	133265712	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	2.634000	0.46528	0.754000	0.32968	0.655000	0.94253	CGG		0.537	KCNQ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268621.2	NM_004519		40	115	0	0	0	1	0	40	115					A	133196530	G	A	133196530	3	1	305	1	0	0	0	0	1	0	0	0	8084	1086	38	1	2108	1	KCNQ3	8	133196530	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	11668212	133196530	13167492	497	15014											
COL22A1	169044	broad.mit.edu	37	chr8	139890023	139890023	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acggcgccgcagcttgccccGgatcttgtcgatggcattga	6	9	13	13	5	1	1	0	1	1	0	2	3	1	2	3	3	2	3	3	3	0	3			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr8:139890023G>A	ENST00000303045.6	-	3	1074	c.628C>T	c.(628-630)Cgg>Tgg	p.R210W	COL22A1_ENST00000435777.1_Missense_Mutation_p.R210W	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	210	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			AGCTTGCCCCGGATCTTGTCG	0.667										HNSCC(7;0.00092)																												ENST00000303045.6																			0				breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211						c.(628-630)Cgg>Tgg		collagen, type XXII, alpha 1							36	37	37					8																	139890023		2203	4300	6503	SO:0001583	missense	169044				cell adhesion	collagen|cytoplasm	structural molecule activity	g.chr8:139890023G>A	AF406780	CCDS6376.1	8q24.3	2013-01-16			ENSG00000169436	ENSG00000169436		"Collagens"	22989	protein-coding gene	gene with protein product		610026					Standard	NM_152888		Approved		uc003yvd.3	Q8NFW1	OTTHUMG00000150035	ENST00000303045.6:c.628C>T	8.37:g.139890023G>A	ENSP00000303153:p.Arg210Trp	HNSCC(7;0.00092)				COL22A1_ENST00000435777.1_Missense_Mutation_p.R210W	p.R210W	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0517)		3	1074	-	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		210			VWFA.		B7ZMH0|C9K0G4|Q8IVT9	Missense_Mutation	SNP	ENST00000303045.6	37	c.628C>T	CCDS6376.1	.	.	.	.	.	.	.	.	.	.	G	17.13	3.310218	0.60414	.	.	ENSG00000169436	ENST00000303045;ENST00000435777;ENST00000545577	T;T	0.78126	-1.15;-1.15	5.03	3.23	0.37069	von Willebrand factor, type A (3);	0.000000	0.46758	D	0.000278	T	0.72740	0.3498	M	0.77616	2.38	0.48571	D	0.999673	B	0.19583	0.037	B	0.15484	0.013	T	0.64228	-0.6457	9	.	.	.	.	6.0205	0.19626	0.1595:0.0:0.6904:0.1501	.	210	Q8NFW1	COMA1_HUMAN	W	210	ENSP00000303153:R210W;ENSP00000387655:R210W	.	R	-	1	2	COL22A1	139959205	1.000000	0.71417	0.966000	0.40874	0.626000	0.37791	1.545000	0.36169	0.499000	0.27970	-0.140000	0.14226	CGG		0.667	COL22A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000315905.2	XM_291257		18	51	0	0	0	1	0	18	51					A	139890023	G	A	139890023	3	1	305	1	0	0	0	0	1	0	0	0	3681	1115	39	2	4504	2	COL22A1	8	139890023	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	6693493	139890023	6473999	498	15015											
TRAPPC9	83696	broad.mit.edu	37	chr8	141321377	141321377	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaagcttggtgaagggcaccGgtggcagggtgaggccgcca	8	5	19	9	2	0	2	0	2	0	0	0	3	0	2	3	6	1	3	3	6	2	1			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr8:141321377G>A	ENST00000438773.2	-	10	1725	c.1592C>T	c.(1591-1593)cCg>cTg	p.P531L	TRAPPC9_ENST00000389328.4_Missense_Mutation_p.P629L|TRAPPC9_ENST00000389327.3_Missense_Mutation_p.P522L	NM_001160372.1	NP_001153844.1	Q96Q05	TPPC9_HUMAN	trafficking protein particle complex 9	531					cell differentiation (GO:0030154)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)				breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	47						GAAGGGCACCGGTGGCAGGGT	0.587																																						ENST00000389328.4																			0				breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	47						c.(1885-1887)cCg>cTg		trafficking protein particle complex 9							71	70	70					8																	141321377		2203	4300	6503	SO:0001583	missense	83696				cell differentiation	endoplasmic reticulum|Golgi apparatus		g.chr8:141321377G>A	BC006206	CCDS34946.1, CCDS55278.1	8q24.3	2010-10-22			ENSG00000167632	ENSG00000167632		"Trafficking protein particle complex"	30832	protein-coding gene	gene with protein product	"TRAPP 120 kDa subunit", "tularik gene 1"	611966				11572484	Standard	NM_031466		Approved	IKBKBBP, NIBP, KIAA1882, T1, TRS120, MRT13	uc003yvh.2	Q96Q05	OTTHUMG00000164187	ENST00000438773.2:c.1592C>T	8.37:g.141321377G>A	ENSP00000405060:p.Pro531Leu					TRAPPC9_ENST00000438773.2_Missense_Mutation_p.P531L|TRAPPC9_ENST00000389327.3_Missense_Mutation_p.P522L	p.P629L	NM_031466.5	NP_113654.4	Q96Q05	TPPC9_HUMAN			10	1900	-			531					Q4VTT3|Q658K7|Q6P149|Q6ZQT3|Q7L5C4|Q86Y21|Q96SL2|Q9BQA2	Missense_Mutation	SNP	ENST00000438773.2	37	c.1886C>T	CCDS55278.1	.	.	.	.	.	.	.	.	.	.	G	18.57	3.653077	0.67472	.	.	ENSG00000167632	ENST00000389328;ENST00000389327;ENST00000438773	.	.	.	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	T	0.74764	0.3759	L	0.54323	1.7	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.76575	0.985;0.988;0.985	T	0.66312	-0.5955	9	0.15499	T	0.54	.	19.7175	0.96129	0.0:0.0:1.0:0.0	.	531;522;629	Q96Q05;Q96Q05-3;Q96Q05-2	TPPC9_HUMAN;.;.	L	629;522;531	.	ENSP00000373978:P522L	P	-	2	0	TRAPPC9	141390559	1.000000	0.71417	0.295000	0.24960	0.076000	0.17211	8.365000	0.90108	2.831000	0.97527	0.650000	0.86243	CCG		0.587	TRAPPC9-002	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000377749.1	NM_031466		23	53	0	0	0	1	0	23	53					A	141321377	G	A	141321377	3	1	305	1	0	0	0	0	1	0	0	0	16462	1116	39	2	1910	2	TRAPPC9	8	141321377	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	1431354	141321377	5042645	499	15016											
PTK2	5747	broad.mit.edu	37	chr8	141745435	141745435	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	cataaggctgtagagggtagGaggacaatttggaggcattg	12	9	16	4	0	0	1	0	0	0	1	0	4	0	4	0	6	0	4	0	6	4	5			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr8:141745435G>A	ENST00000522684.1	-	22	2174	c.1945C>T	c.(1945-1947)Cct>Tct	p.P649S	MIR151A_ENST00000521276.1_RNA|PTK2_ENST00000521059.1_Missense_Mutation_p.P649S|PTK2_ENST00000395218.2_Missense_Mutation_p.P649S|PTK2_ENST00000517887.1_Missense_Mutation_p.P693S|PTK2_ENST00000535192.1_Missense_Mutation_p.P649S|PTK2_ENST00000519465.1_Missense_Mutation_p.P277S|PTK2_ENST00000538769.1_Missense_Mutation_p.P317S|PTK2_ENST00000340930.3_Missense_Mutation_p.P649S|PTK2_ENST00000519419.1_Missense_Mutation_p.P693S	NM_153831.3	NP_722560.1	Q05397	FAK1_HUMAN	protein tyrosine kinase 2	649	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell motility (GO:0048870)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|central nervous system neuron axonogenesis (GO:0021955)|embryo development (GO:0009790)|endothelial cell migration (GO:0043542)|ephrin receptor signaling pathway (GO:0048013)|establishment of cell polarity (GO:0030010)|establishment of nucleus localization (GO:0040023)|extracellular matrix organization (GO:0030198)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|growth hormone receptor signaling pathway (GO:0060396)|heart morphogenesis (GO:0003007)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|microtubule cytoskeleton organization (GO:0000226)|negative regulation of anoikis (GO:2000811)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of organ growth (GO:0046621)|negative regulation of synapse assembly (GO:0051964)|netrin-activated signaling pathway (GO:0038007)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|placenta development (GO:0001890)|platelet activation (GO:0030168)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|protein autophosphorylation (GO:0046777)|regulation of cell adhesion mediated by integrin (GO:0033628)|regulation of cell proliferation (GO:0042127)|regulation of cell shape (GO:0008360)|regulation of cytoskeleton organization (GO:0051493)|regulation of endothelial cell migration (GO:0010594)|regulation of focal adhesion assembly (GO:0051893)|regulation of osteoblast differentiation (GO:0045667)|regulation of Rho GTPase activity (GO:0032319)|signal complex assembly (GO:0007172)|transforming growth factor beta receptor signaling pathway (GO:0007179)|vasculogenesis (GO:0001570)	apical plasma membrane (GO:0016324)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|stress fiber (GO:0001725)	actin binding (GO:0003779)|ATP binding (GO:0005524)|JUN kinase binding (GO:0008432)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|SH2 domain binding (GO:0042169)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(6)|lung(23)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	48	all_cancers(97;1.05e-15)|all_epithelial(106;2.09e-14)|Lung NSC(106;1.61e-06)|all_lung(105;2.5e-06)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;2.72e-05)|Breast(495;0.159)	BRCA - Breast invasive adenocarcinoma(115;0.137)			TAGAGGGTAGGAGGACAATTT	0.488																																						ENST00000522684.1																			0				breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(6)|lung(23)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	48						c.(1945-1947)Cct>Tct		protein tyrosine kinase 2							145	118	127					8																	141745435		2203	4300	6503	SO:0001583	missense	5747				axon guidance|blood coagulation|cellular component disassembly involved in apoptosis|ephrin receptor signaling pathway|growth hormone receptor signaling pathway|integrin-mediated signaling pathway|peptidyl-tyrosine phosphorylation|protein autophosphorylation|regulation of cell adhesion mediated by integrin|signal complex assembly	cytoskeleton|cytosol|focal adhesion	ATP binding|JUN kinase binding|non-membrane spanning protein tyrosine kinase activity|SH2 domain binding|signal transducer activity	g.chr8:141745435G>A	L13616	CCDS6381.1, CCDS56557.1	8q24.3	2013-02-18	2013-02-18		ENSG00000169398	ENSG00000169398	2.7.10.1	"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	9611	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 71"	600758	"PTK2 protein tyrosine kinase 2"			8422239	Standard	NM_153831		Approved	FAK, FADK, FAK1, PPP1R71	uc003yvt.3	Q05397	OTTHUMG00000067438	ENST00000522684.1:c.1945C>T	8.37:g.141745435G>A	ENSP00000429911:p.Pro649Ser					PTK2_ENST00000538769.1_Missense_Mutation_p.P317S|PTK2_ENST00000517887.1_Missense_Mutation_p.P693S|PTK2_ENST00000521059.1_Missense_Mutation_p.P649S|PTK2_ENST00000535192.1_Missense_Mutation_p.P649S|PTK2_ENST00000519465.1_Missense_Mutation_p.P277S|PTK2_ENST00000340930.3_Missense_Mutation_p.P649S|PTK2_ENST00000519419.1_Missense_Mutation_p.P693S|PTK2_ENST00000395218.2_Missense_Mutation_p.P649S	p.P649S	NM_153831.3	NP_722560.1	Q05397	FAK1_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.137)		22	2174	-	all_cancers(97;1.05e-15)|all_epithelial(106;2.09e-14)|Lung NSC(106;1.61e-06)|all_lung(105;2.5e-06)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;2.72e-05)|Breast(495;0.159)	649			Protein kinase.		B4E2N6|F5H4S4|Q14291|Q9UD85	Missense_Mutation	SNP	ENST00000522684.1	37	c.1945C>T	CCDS6381.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	33|33	5.279688|5.279688	0.95489|0.95489	.|.	.|.	ENSG00000169398|ENSG00000169398	ENST00000522684;ENST00000535192;ENST00000519465;ENST00000517887;ENST00000521059;ENST00000395214;ENST00000395218;ENST00000354438;ENST00000395221;ENST00000523539;ENST00000340930;ENST00000538769;ENST00000519419;ENST00000521986;ENST00000342207|ENST00000519654	D;D;D;D;D;D;D;D;D;D;D|.	0.81996|.	-1.56;-1.56;-1.56;-1.56;-1.56;-1.56;-1.56;-1.56;-1.56;-1.56;-1.56|.	5.51|5.51	5.51|5.51	0.81932|0.81932	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.51991|0.51991	0.1707|0.1707	N|N	0.16130|0.16130	0.375|0.375	0.80722|0.80722	D|D	1|1	D;D;D;P;D;P;D;P;D;P|.	0.89917|.	0.961;0.996;1.0;0.952;0.996;0.94;1.0;0.926;0.998;0.847|.	P;P;D;P;D;P;D;P;D;P|.	0.73708|.	0.72;0.885;0.978;0.625;0.945;0.545;0.978;0.729;0.981;0.715|.	T|T	0.46830|0.46830	-0.9163|-0.9163	10|5	0.62326|.	D|.	0.03|.	.|.	19.4121|19.4121	0.94679|0.94679	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	649;344;569;649;671;649;601;497;317;277|.	B4E2N6;B4DH13;Q59GN8;Q05397;Q658W2;Q8IYN9;Q59GM6;Q05397-2;Q8N9D7;E9PEI4|.	.;.;.;FAK1_HUMAN;.;.;.;.;.;.|.	S|F	649;649;277;693;649;601;649;570;344;321;649;317;693;347;495|659	ENSP00000429911:P649S;ENSP00000438009:P649S;ENSP00000429170:P277S;ENSP00000429082:P693S;ENSP00000429474:P649S;ENSP00000378644:P649S;ENSP00000428492:P321S;ENSP00000341189:P649S;ENSP00000445742:P317S;ENSP00000429129:P693S;ENSP00000430603:P347S|.	ENSP00000341189:P649S|.	P|S	-|-	1|2	0|0	PTK2|PTK2	141814617|141814617	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	9.578000|9.578000	0.98200|0.98200	2.595000|2.595000	0.87683|0.87683	0.655000|0.655000	0.94253|0.94253	CCT|TCC		0.488	PTK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378054.5	NM_005607		18	44	0	0	0	1	0	18	44					A	141745435	G	A	141745435	3	1	305	1	0	0	0	0	1	0	0	0	12762	1174	41	3	1257	3	PTK2	8	141745435	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	424058	141745435	4618587	500	15017											
SLC45A4	57210	broad.mit.edu	37	chr8	142222365	142222365	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttcagcacggtgggcttttcGctgttcccaccggccctgcc	3	11	11	16	3	1	0	1	0	0	0	3	0	2	0	4	3	2	4	4	3	0	4			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr8:142222365G>A	ENST00000024061.3	-	7	2386	c.2079C>T	c.(2077-2079)agC>agT	p.S693S	SLC45A4_ENST00000519067.1_Silent_p.S693S|SLC45A4_ENST00000517878.1_Silent_p.S744S|SLC45A4_ENST00000433583.2_Silent_p.S686S	NM_001080431.1	NP_001073900.1	Q5BKX6	S45A4_HUMAN	solute carrier family 45, member 4						transport (GO:0006810)	integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31	all_cancers(97;1.52e-15)|all_epithelial(106;2.92e-14)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0493)			TGGGCTTTTCGCTGTTCCCAC	0.622																																						ENST00000519067.1																			0				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31						c.(2077-2079)agC>agT		solute carrier family 45, member 4							36	33	34					8																	142222365		2202	4300	6502	SO:0001819	synonymous_variant	57210				transport	integral to membrane		g.chr8:142222365G>A	AB032952	CCDS34948.1, CCDS69550.1, CCDS75795.1	8q24.3	2013-05-22						"Solute carriers"	29196	protein-coding gene	gene with protein product							Standard	NM_001080431		Approved	KIAA1126	uc003ywd.1	Q5BKX6		ENST00000024061.3:c.2079C>T	8.37:g.142222365G>A						SLC45A4_ENST00000433583.2_Silent_p.S686S|SLC45A4_ENST00000517878.1_Silent_p.S744S|SLC45A4_ENST00000024061.3_Silent_p.S693S	p.S693S			Q5BKX6	S45A4_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0493)		7	2382	-	all_cancers(97;1.52e-15)|all_epithelial(106;2.92e-14)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		744					Q6ZRI2|Q9ULU3	Silent	SNP	ENST00000024061.3	37	c.2079C>T	CCDS34948.1																																																																																				0.622	SLC45A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378571.3	XM_050325		10	22	0	0	0	1	0	10	22					A	142222365	G	A	142222365	2	1	305	1	0	0	0	0	0	0	0	1	14643	1078	38	1		1	SLC45A4	8	142222365	Silent	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	476930	142222365	4141657	501	15018											
FAM83H	286077	broad.mit.edu	37	chr8	144812678	144812679	+	Frame_Shift_Del	DEL	TT	TT	-																															accgccaggcggtagtactcTttgtagtgaggcggcaggta																										TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr8:144812678_144812679delTT	ENST00000388913.3	-	2	199_200	c.74_75delAA	c.(73-75)aaafs	p.K25fs	MIR4664_ENST00000583819.1_RNA	NM_198488.3	NP_940890	Q6ZRV2	FA83H_HUMAN	family with sequence similarity 83, member H	25					biomineral tissue development (GO:0031214)					central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(12)|pancreas(1)|prostate(3)|urinary_tract(1)	21	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			GGTAGTACTCTTTGTAGTGAGG	0.683																																						ENST00000388913.3																			0				central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(12)|pancreas(1)|prostate(3)|urinary_tract(1)	21						c.(73-75)afs		family with sequence similarity 83, member H																																				SO:0001589	frameshift_variant	286077				biomineral tissue development			g.chr8:144812678_144812679delTT	AK127960	CCDS6410.2	8q24.3	2014-03-13			ENSG00000180921	ENSG00000180921			24797	protein-coding gene	gene with protein product		611927				18252228	Standard	NM_198488		Approved	FLJ46072	uc003yzk.3	Q6ZRV2	OTTHUMG00000133559	ENST00000388913.3:c.74_75delAA	8.37:g.144812678_144812679delTT	ENSP00000373565:p.Lys25fs						p.K25fs	NM_198488.3	NP_940890.3	Q6ZRV2	FA83H_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)		2	199_200	-	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		25					A0JLS2|Q8N4W0	Frame_Shift_Del	DEL	ENST00000388913.3	37	c.74_75delAA	CCDS6410.2																																																																																				0.683	FAM83H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257632.2	NM_198488		18	42						18	42	---	---	---	---	-	144812679	TT	-	144812678	7	5	305	1	0	1	0	1	0	0	0	0	5640	1606	56	0	3480	0	FAM83H	8	144812678	Frame_Shift_Del	DEL	TT	TCGA-KK-A59V-01A-11D-A29Q-08	2590313	144812678	1551344	502	15019											
PLEC	5339	broad.mit.edu	37	chr8	144993838	144993838	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cctccagcaggagcgcagccGttgtggctctcagcaggccc	6	6	13	16	2	1	0	1	0	1	0	3	1	2	1	4	3	4	5	4	3	0	1			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr8:144993838G>A	ENST00000322810.4	-	32	10731	c.10562C>T	c.(10561-10563)aCg>aTg	p.T3521M	PLEC_ENST00000356346.3_Missense_Mutation_p.T3370M|PLEC_ENST00000398774.2_Missense_Mutation_p.T3352M|PLEC_ENST00000436759.2_Missense_Mutation_p.T3411M|PLEC_ENST00000527096.1_Missense_Mutation_p.T3407M|PLEC_ENST00000345136.3_Missense_Mutation_p.T3384M|PLEC_ENST00000354958.2_Missense_Mutation_p.T3362M|PLEC_ENST00000354589.3_Missense_Mutation_p.T3384M|PLEC_ENST00000357649.2_Missense_Mutation_p.T3388M	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	3521	Globular 2.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						GAGCGCAGCCGTTGTGGCTCT	0.687																																						ENST00000322810.4																			0				NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						c.(10561-10563)aCg>aTg		plectin							13	15	15					8																	144993838		1973	4085	6058	SO:0001583	missense	5339				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle	g.chr8:144993838G>A	U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"plectin 1, intermediate filament binding protein, 500kD", "epidermolysis bullosa simplex 1 (Ogna)", "plectin 1, intermediate filament binding protein 500kDa"	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.10562C>T	8.37:g.144993838G>A	ENSP00000323856:p.Thr3521Met					PLEC_ENST00000527096.1_Missense_Mutation_p.T3407M|PLEC_ENST00000354958.2_Missense_Mutation_p.T3362M|PLEC_ENST00000357649.2_Missense_Mutation_p.T3388M|PLEC_ENST00000354589.3_Missense_Mutation_p.T3384M|PLEC_ENST00000345136.3_Missense_Mutation_p.T3384M|PLEC_ENST00000398774.2_Missense_Mutation_p.T3352M|PLEC_ENST00000436759.2_Missense_Mutation_p.T3411M|PLEC_ENST00000356346.3_Missense_Mutation_p.T3370M	p.T3521M	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN			32	10731	-			3521			Globular 2.		Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Missense_Mutation	SNP	ENST00000322810.4	37	c.10562C>T	CCDS43772.1	.	.	.	.	.	.	.	.	.	.	G	4.603	0.111966	0.08831	.	.	ENSG00000178209	ENST00000345136;ENST00000357649;ENST00000354589;ENST00000398774;ENST00000322810;ENST00000354958;ENST00000356346;ENST00000436759;ENST00000527096	T;T;T;T;T;T;T;T;T	0.74421	-0.84;-0.84;-0.84;-0.84;-0.84;-0.84;-0.84;-0.84;-0.84	4.86	3.98	0.46160	.	0.000000	0.64402	U	0.000005	D	0.85788	0.5778	M	0.80508	2.5	0.54753	D	0.999985	D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D	0.80764	0.989;0.989;0.989;0.994;0.989;0.989;0.989;0.989	D	0.87786	0.2615	10	0.72032	D	0.01	.	14.2157	0.65792	0.0:0.0:0.8492:0.1508	.	3411;3370;3362;3521;3352;3384;3388;3384	Q15149-2;Q15149-9;Q15149-8;Q15149;Q15149-7;Q15149-5;Q15149-6;Q15149-4	.;.;.;PLEC_HUMAN;.;.;.;.	M	3384;3388;3384;3352;3521;3362;3370;3411;3407	ENSP00000344848:T3384M;ENSP00000350277:T3388M;ENSP00000346602:T3384M;ENSP00000381756:T3352M;ENSP00000323856:T3521M;ENSP00000347044:T3362M;ENSP00000348702:T3370M;ENSP00000388180:T3411M;ENSP00000434583:T3407M	ENSP00000323856:T3521M	T	-	2	0	PLEC	145065826	1.000000	0.71417	0.813000	0.32504	0.001000	0.01503	9.571000	0.98176	1.253000	0.44018	-0.332000	0.08345	ACG		0.687	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	NM_000445		13	35	0	0	0	1	0	13	35					A	144993838	G	A	144993838	3	1	305	1	0	0	0	0	1	0	0	0	12052	1145	40	1	3496	1	PLEC	8	144993838	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	181160	144993838	1370184	503	15020											
PLEC	5339	broad.mit.edu	37	chr8	145001706	145001706	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgcactctcgcggtagtaacGcagctggcggcccagttgct	6	9	13	13	4	1	0	0	0	1	0	2	0	1	0	1	3	4	7	1	3	2	3			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr8:145001706G>A	ENST00000322810.4	-	27	4208	c.4039C>T	c.(4039-4041)Cgt>Tgt	p.R1347C	PLEC_ENST00000356346.3_Missense_Mutation_p.R1196C|PLEC_ENST00000398774.2_Missense_Mutation_p.R1178C|PLEC_ENST00000436759.2_Missense_Mutation_p.R1237C|PLEC_ENST00000527096.1_Missense_Mutation_p.R1233C|PLEC_ENST00000345136.3_Missense_Mutation_p.R1210C|PLEC_ENST00000354958.2_Missense_Mutation_p.R1188C|PLEC_ENST00000354589.3_Missense_Mutation_p.R1210C|PLEC_ENST00000357649.2_Missense_Mutation_p.R1214C	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	1347	Globular 1.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						CGGTAGTAACGCAGCTGGCGG	0.721																																						ENST00000322810.4																			0				NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						c.(4039-4041)Cgt>Tgt		plectin							8	9	9					8																	145001706		1820	3919	5739	SO:0001583	missense	5339				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle	g.chr8:145001706G>A	U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"plectin 1, intermediate filament binding protein, 500kD", "epidermolysis bullosa simplex 1 (Ogna)", "plectin 1, intermediate filament binding protein 500kDa"	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.4039C>T	8.37:g.145001706G>A	ENSP00000323856:p.Arg1347Cys					PLEC_ENST00000527096.1_Missense_Mutation_p.R1233C|PLEC_ENST00000354958.2_Missense_Mutation_p.R1188C|PLEC_ENST00000357649.2_Missense_Mutation_p.R1214C|PLEC_ENST00000354589.3_Missense_Mutation_p.R1210C|PLEC_ENST00000345136.3_Missense_Mutation_p.R1210C|PLEC_ENST00000398774.2_Missense_Mutation_p.R1178C|PLEC_ENST00000436759.2_Missense_Mutation_p.R1237C|PLEC_ENST00000356346.3_Missense_Mutation_p.R1196C	p.R1347C	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN			27	4208	-			1347			Globular 1.		Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Missense_Mutation	SNP	ENST00000322810.4	37	c.4039C>T	CCDS43772.1	.	.	.	.	.	.	.	.	.	.	G	12.59	1.983672	0.35036	.	.	ENSG00000178209	ENST00000345136;ENST00000357649;ENST00000354589;ENST00000398774;ENST00000322810;ENST00000354958;ENST00000356346;ENST00000436759;ENST00000527096	T;T;T;T;T;T;T;T;T	0.24350	1.86;1.86;1.86;1.86;1.86;1.86;1.86;1.86;1.86	5.1	5.1	0.69264	.	0.678091	0.13447	U	0.387183	T	0.42471	0.1204	L	0.48642	1.525	0.49915	D	0.999835	D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	P;P;P;P;P;P;P;P	0.60682	0.878;0.878;0.878;0.759;0.878;0.878;0.878;0.878	T	0.22417	-1.0217	10	0.87932	D	0	.	14.8507	0.70295	0.0:0.1447:0.8552:0.0	.	1237;1196;1188;1347;1178;1210;1214;1210	Q15149-2;Q15149-9;Q15149-8;Q15149;Q15149-7;Q15149-5;Q15149-6;Q15149-4	.;.;.;PLEC_HUMAN;.;.;.;.	C	1210;1214;1210;1178;1347;1188;1196;1237;1233	ENSP00000344848:R1210C;ENSP00000350277:R1214C;ENSP00000346602:R1210C;ENSP00000381756:R1178C;ENSP00000323856:R1347C;ENSP00000347044:R1188C;ENSP00000348702:R1196C;ENSP00000388180:R1237C;ENSP00000434583:R1233C	ENSP00000323856:R1347C	R	-	1	0	PLEC	145073694	0.894000	0.30519	1.000000	0.80357	0.863000	0.49368	0.600000	0.24104	2.358000	0.79984	0.501000	0.49751	CGT		0.721	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	NM_000445		8	25	0	0	0	1	0	8	25					A	145001706	G	A	145001706	3	1	305	1	0	0	0	0	1	0	0	0	12052	1087	38	1	10039	1	PLEC	8	145001706	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	7868	145001706	1362316	504	15021											
RECQL4	9684	broad.mit.edu	37	chr8	145742551	145742551	+	5'Flank	DEL	C	C	-																															gcagcccgattcagatggggCccccagcagcggggctctgg																										TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr8:145742551delC	ENST00000292524.1	+	0	0				LRRC14_ENST00000529022.1_5'Flank|RECQL4_ENST00000532237.1_5'UTR|RECQL4_ENST00000428558.2_Frame_Shift_Del_p.G79fs	NM_001272036.1|NM_014665.2	NP_001258965.1|NP_055480.1	Q15048	LRC14_HUMAN	leucine rich repeat containing 14											endometrium(1)|lung(3)|prostate(1)	5	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			TCAGATGGGGCCCCCAGCAGC	0.692																																						ENST00000428558.2										"N, F, S"						"osteosarcoma, skin basal and sqamous cell"			0				breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|lung(10)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	26						c.(235-237)ggfs	Genes defective in diseases associated with sensitivity to DNA damaging agents	RecQ protein-like 4							10	12	11					8																	145742551		1866	4096	5962	SO:0001631	upstream_gene_variant	9401	Rothmund-Thomson syndrome;RAPADILINO syndrome;Baller-Gerold syndrome			DNA duplex unwinding|DNA recombination|DNA repair	cytoplasm|nucleus	ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|DNA strand annealing activity|zinc ion binding	g.chr8:145742551delC	BC011377	CCDS6432.1	8q24.3	2012-08-20			ENSG00000160959	ENSG00000160959			20419	protein-coding gene	gene with protein product						7584026	Standard	NM_001272036		Approved	KIAA0014, LRRC14A	uc003zdk.3	Q15048	OTTHUMG00000165179		8.37:g.145742551delC	Exception_encountered					RECQL4_ENST00000532237.1_5'UTR	p.G79fs	NM_004260.3	NP_004251.3	O94761	RECQ4_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)		4	278	-	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		79					A8K0A8|D3DWM8	Frame_Shift_Del	DEL	ENST00000292524.1	37	c.237delG	CCDS6432.1																																																																																				0.692	LRRC14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382494.1	NM_014665		7	26						7	26	---	---	---	---	-	145742551	C	-	145742551	6	5	305	0	1	1	0	1	0	0	0	0	13202	726	26	0		0	RECQL4	8	145742551	5'Flank	DEL	C	TCGA-KK-A59V-01A-11D-A29Q-08	740845	145742551	621471	505	15022											
SMARCA2	6595	broad.mit.edu	37	chr9	2119528	2119528	+	Frame_Shift_Del	DEL	T	T	-																															acgagaagaagaatttgaccTttttatggtaatgttacaga																										TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr9:2119528delT	ENST00000382203.1	+	26	3964	c.3755delT	c.(3754-3756)cttfs	p.L1252fs	SMARCA2_ENST00000382194.1_Frame_Shift_Del_p.L1252fs|SMARCA2_ENST00000349721.2_Frame_Shift_Del_p.L1252fs|SMARCA2_ENST00000357248.2_Frame_Shift_Del_p.L1252fs			P51531	SMCA2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2	1252					aortic smooth muscle cell differentiation (GO:0035887)|ATP catabolic process (GO:0006200)|chromatin remodeling (GO:0006338)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)	intermediate filament cytoskeleton (GO:0045111)|intracellular membrane-bounded organelle (GO:0043231)|nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	ATP binding (GO:0005524)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|RNA polymerase II transcription coactivator activity (GO:0001105)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)		GBM - Glioblastoma multiforme(50;0.0475)		GAATTTGACCTTTTTATGGTA	0.413																																						ENST00000382203.1																			0				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	56						c.(3754-3756)ctfs		SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2							91	83	86					9																	2119528		2203	4300	6503	SO:0001589	frameshift_variant	6595				chromatin remodeling|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development	intermediate filament cytoskeleton|nBAF complex|npBAF complex|nuclear chromatin|nucleoplasm|SWI/SNF complex|WINAC complex	ATP binding|DNA-dependent ATPase activity|helicase activity|protein binding|RNA polymerase II transcription coactivator activity|transcription regulatory region DNA binding	g.chr9:2119528delT	D26155	CCDS34977.1, CCDS34978.1, CCDS75807.1, CCDS75808.1	9p24.3	2008-11-11	2006-11-09		ENSG00000080503	ENSG00000080503			11098	protein-coding gene	gene with protein product		600014		SNF2L2		8012116	Standard	NM_003070		Approved	BAF190, hSNF2a, hBRM, Sth1p, SNF2LA, BRM, SNF2, SWI2	uc003zhc.3	P51531	OTTHUMG00000019445	ENST00000382203.1:c.3755delT	9.37:g.2119528delT	ENSP00000371638:p.Leu1252fs					SMARCA2_ENST00000357248.2_Frame_Shift_Del_p.L1252fs|SMARCA2_ENST00000349721.2_Frame_Shift_Del_p.L1252fs|SMARCA2_ENST00000382194.1_Frame_Shift_Del_p.L1252fs	p.L1252fs			P51531	SMCA2_HUMAN		GBM - Glioblastoma multiforme(50;0.0475)	26	3964	+		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)	1252					B1ALG3|B1ALG4|D3DRH4|D3DRH5	Frame_Shift_Del	DEL	ENST00000382203.1	37	c.3755delT	CCDS34977.1																																																																																				0.413	SMARCA2-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000051505.1	NM_003070		15	36						15	36	---	---	---	---	-	2119528	T	-	2119528	7	5	305	1	0	1	0	1	0	0	0	0	14769	1609	56	0	3853	0	SMARCA2	9	2119528	Frame_Shift_Del	DEL	T	TCGA-KK-A59V-01A-11D-A29Q-08		2119528	139093903	506	15023											
KIAA1432	57589	broad.mit.edu	37	chr9	5763494	5763494	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctttctgtgttgtggagagaAcctctcagatctacctccac	8	13	8	12	0	3	2	1	0	3	2	5	4	4	3	3	1	2	1	3	1	2	3			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr9:5763494A>G	ENST00000414202.2	+	19	2658	c.2467A>G	c.(2467-2469)Acc>Gcc	p.T823A	KIAA1432_ENST00000381532.2_Missense_Mutation_p.T744A|KIAA1432_ENST00000449720.2_Missense_Mutation_p.T707A|KIAA1432_ENST00000418622.3_Missense_Mutation_p.T744A|KIAA1432_ENST00000251879.6_Missense_Mutation_p.T823A	NM_001206557.1|NM_020829.3	NP_001193486.1|NP_065880.2														breast(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(23)|prostate(1)|upper_aerodigestive_tract(1)	45		Acute lymphoblastic leukemia(23;0.154)		GBM - Glioblastoma multiforme(50;0.000525)|Lung(218;0.122)		TGTGGAGAGAACCTCTCAGAT	0.478																																						ENST00000414202.2																			0				breast(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(23)|prostate(1)|upper_aerodigestive_tract(1)	45						c.(2467-2469)Acc>Gcc		KIAA1432							127	116	120					9																	5763494		2203	4300	6503	SO:0001583	missense	57589					integral to membrane		g.chr9:5763494A>G																												ENST00000414202.2:c.2467A>G	9.37:g.5763494A>G	ENSP00000416696:p.Thr823Ala					KIAA1432_ENST00000251879.6_Missense_Mutation_p.T823A|KIAA1432_ENST00000418622.3_Missense_Mutation_p.T744A|KIAA1432_ENST00000381532.2_Missense_Mutation_p.T744A|KIAA1432_ENST00000449720.2_Missense_Mutation_p.T707A	p.T823A	NM_001206557.1|NM_020829.3	NP_001193486.1|NP_065880.2	Q4ADV7	RIC1_HUMAN		GBM - Glioblastoma multiforme(50;0.000525)|Lung(218;0.122)	19	2658	+		Acute lymphoblastic leukemia(23;0.154)	823						Missense_Mutation	SNP	ENST00000414202.2	37	c.2467A>G	CCDS34982.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	19.69|19.69	3.874162|3.874162	0.72180|0.72180	.|.	.|.	ENSG00000107036|ENSG00000107036	ENST00000545641|ENST00000251879;ENST00000414202;ENST00000381532;ENST00000418622;ENST00000449720	.|.	.|.	.|.	5.78|5.78	4.65|4.65	0.58169|0.58169	.|Ribosome control protein 1 (1);	.|0.043982	.|0.85682	.|N	.|0.000000	T|T	0.69305|0.69305	0.3096|0.3096	M|M	0.63843|0.63843	1.955|1.955	0.58432|0.58432	D|D	0.999998|0.999998	.|D;D;D;D	.|0.89917	.|1.0;1.0;1.0;1.0	.|D;D;D;D	.|0.91635	.|0.998;0.999;0.999;0.997	T|T	0.65425|0.65425	-0.6171|-0.6171	5|9	.|0.18276	.|T	.|0.48	-10.5008|-10.5008	11.4976|11.4976	0.50417|0.50417	0.9302:0.0:0.0698:0.0|0.9302:0.0:0.0698:0.0	.|.	.|707;744;823;823	.|B7ZM67;B2RN24;Q4ADV7;G5E932	.|.;.;RIC1_HUMAN;.	S|A	714|823;823;744;744;707	.|.	.|ENSP00000251879:T823A	N|T	+|+	2|1	0|0	KIAA1432|KIAA1432	5753494|5753494	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	7.173000|7.173000	0.77612|0.77612	1.025000|1.025000	0.39708|0.39708	0.459000|0.459000	0.35465|0.35465	AAC|ACC		0.478	KIAA1432-002	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051636.3			5	99	0	0	0	1	0	5	99					G	5763494	A	G	5763494	3	3	305	1	0	0	0	0	1	0	0	0	8233	43	2	4	2300	4	KIAA1432	9	5763494	Missense_Mutation	SNP	A	TCGA-KK-A59V-01A-11D-A29Q-08	3643966	5763494	135449937	507	15024											
TPD52L3	89882	broad.mit.edu	37	chr9	6328900	6328900	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	agctgctctgtccaccatggGcactctcatctgcaggaagc	8	9	10	14	0	3	0	1	0	3	0	5	1	4	1	2	2	4	4	2	2	1	0			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr9:6328900G>A	ENST00000344545.5	+	1	552	c.305G>A	c.(304-306)gGc>gAc	p.G102D	TPD52L3_ENST00000314556.3_Missense_Mutation_p.G102D|TPD52L3_ENST00000381428.1_Missense_Mutation_p.G102D	NM_033516.5	NP_277051	Q96J77	TPD55_HUMAN	tumor protein D52-like 3	102										large_intestine(1)|lung(9)|skin(1)	11		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.0198)|Lung(218;0.1)		TCCACCATGGGCACTCTCATC	0.512																																						ENST00000344545.5																			0				large_intestine(1)|lung(9)|skin(1)	11						c.(304-306)gGc>gAc		tumor protein D52-like 3							94	85	88					9																	6328900		2203	4300	6503	SO:0001583	missense	89882						protein binding	g.chr9:6328900G>A	AY032877	CCDS34984.1, CCDS34985.1, CCDS34986.1	9p24.1	2008-02-05			ENSG00000170777	ENSG00000170777			23382	protein-coding gene	gene with protein product							Standard	NM_033516		Approved	NYD-SP25	uc003zjw.3	Q96J77	OTTHUMG00000019518	ENST00000344545.5:c.305G>A	9.37:g.6328900G>A	ENSP00000341677:p.Gly102Asp					TPD52L3_ENST00000381428.1_Missense_Mutation_p.G102D|TPD52L3_ENST00000314556.3_Missense_Mutation_p.G102D	p.G102D	NM_033516.5	NP_277051.3	Q96J77	TPD55_HUMAN		GBM - Glioblastoma multiforme(50;0.0198)|Lung(218;0.1)	1	552	+		Acute lymphoblastic leukemia(23;0.158)	102					Q5TCR3|Q5TCR4|Q5TCR5|Q8N4P5|Q8WWF7|Q96M09	Missense_Mutation	SNP	ENST00000344545.5	37	c.305G>A	CCDS34986.1	.	.	.	.	.	.	.	.	.	.	G	14.62	2.588787	0.46110	.	.	ENSG00000170777	ENST00000344545;ENST00000381428;ENST00000314556	T;T;T	0.30448	1.53;1.53;1.53	4.34	4.34	0.51931	.	0.385935	0.25827	N	0.028058	T	0.60025	0.2237	M	0.88979	2.995	0.45261	D	0.998262	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.996;0.998;0.996	T	0.67440	-0.5670	10	0.87932	D	0	-1.1939	12.5606	0.56279	0.0:0.0:1.0:0.0	.	102;102;102	Q96J77-2;Q96J77;Q96J77-3	.;TPD55_HUMAN;.	D	102	ENSP00000341677:G102D;ENSP00000370836:G102D;ENSP00000318665:G102D	ENSP00000318665:G102D	G	+	2	0	TPD52L3	6318900	1.000000	0.71417	0.990000	0.47175	0.028000	0.11728	2.505000	0.45424	2.436000	0.82500	0.511000	0.50034	GGC		0.512	TPD52L3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051658.1	NM_033516		20	107	0	0	0	1	0	20	107					A	6328900	G	A	6328900	3	1	305	1	0	0	0	0	1	0	0	0	16397	1203	42	3	307	3	TPD52L3	9	6328900	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	565406	6328900	134884531	508	15025											
PTPRD	5789	broad.mit.edu	37	chr9	8449746	8449746	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggtgtttgaaagttaaggcGcctcagttctacagggtctg	8	12	13	8	2	3	1	1	1	2	0	3	1	3	1	1	3	1	3	1	3	3	4			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr9:8449746G>A	ENST00000381196.4	-	31	4510	c.3967C>T	c.(3967-3969)Cgc>Tgc	p.R1323C	PTPRD_ENST00000358503.5_Missense_Mutation_p.R1301C|PTPRD_ENST00000355233.5_Missense_Mutation_p.R917C|PTPRD_ENST00000486161.1_Missense_Mutation_p.R916C|PTPRD_ENST00000540109.1_Missense_Mutation_p.R1323C|PTPRD_ENST00000397617.3_Missense_Mutation_p.R902C|PTPRD_ENST00000356435.5_Missense_Mutation_p.R1323C|PTPRD_ENST00000397606.3_Missense_Mutation_p.R902C|PTPRD_ENST00000397611.3_Missense_Mutation_p.R913C|PTPRD_ENST00000537002.1_Missense_Mutation_p.R913C|PTPRD_ENST00000360074.4_Missense_Mutation_p.R1310C	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	1323					heterophilic cell-cell adhesion (GO:0007157)|neuron differentiation (GO:0030182)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|positive regulation of dendrite morphogenesis (GO:0050775)|presynaptic membrane assembly (GO:0097105)|protein dephosphorylation (GO:0006470)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	cell adhesion molecule binding (GO:0050839)|receptor binding (GO:0005102)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.R794C(1)|p.R1323C(1)		NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		AAGTTAAGGCGCCTCAGTTCT	0.463										TSP Lung(15;0.13)																												ENST00000381196.4																			2	Substitution - Missense(2)	p.R794C(1)|p.R1323C(1)	prostate(2)	NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168						c.(3967-3969)Cgc>Tgc		protein tyrosine phosphatase, receptor type, D							352	317	329					9																	8449746		2203	4300	6503	SO:0001583	missense	5789				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr9:8449746G>A	X54133	CCDS6472.1, CCDS43786.1, CCDS6472.2, CCDS55288.1, CCDS55289.1, CCDS55290.1, CCDS75813.1	9p24.1-p23	2013-02-11			ENSG00000153707	ENSG00000153707		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	9668	protein-coding gene	gene with protein product		601598				7896816, 8355697	Standard	NM_002839		Approved	PTPD, HPTP	uc003zkk.3	P23468	OTTHUMG00000021005	ENST00000381196.4:c.3967C>T	9.37:g.8449746G>A	ENSP00000370593:p.Arg1323Cys	TSP Lung(15;0.13)				PTPRD_ENST00000356435.5_Missense_Mutation_p.R1323C|PTPRD_ENST00000358503.5_Missense_Mutation_p.R1301C|PTPRD_ENST00000355233.5_Missense_Mutation_p.R917C|PTPRD_ENST00000397606.3_Missense_Mutation_p.R902C|PTPRD_ENST00000397611.3_Missense_Mutation_p.R913C|PTPRD_ENST00000540109.1_Missense_Mutation_p.R1323C|PTPRD_ENST00000397617.3_Missense_Mutation_p.R902C|PTPRD_ENST00000360074.4_Missense_Mutation_p.R1310C|PTPRD_ENST00000537002.1_Missense_Mutation_p.R913C|PTPRD_ENST00000486161.1_Missense_Mutation_p.R916C	p.R1323C	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)	31	4510	-		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)	1323					B1ALA0|F5GWT7|Q3KPJ0|Q3KPJ1|Q3KPJ2	Missense_Mutation	SNP	ENST00000381196.4	37	c.3967C>T	CCDS43786.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.113135	0.77210	.	.	ENSG00000153707	ENST00000381196;ENST00000356435;ENST00000360074;ENST00000358503;ENST00000355233;ENST00000397617;ENST00000397611;ENST00000537002;ENST00000346816;ENST00000540109;ENST00000486161;ENST00000397606	T;T;T;T;T;T;T;T;T;T;T	0.57273	0.47;0.47;0.51;0.56;0.63;0.74;0.5;0.41;0.47;0.62;0.74	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	T	0.76449	0.3989	M	0.88979	2.995	0.80722	D	1	D;D;D;D;D;D;B;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;0.014;0.999;1.0	D;D;D;D;D;D;B;P;D	0.83275	0.973;0.973;0.973;0.973;0.996;0.988;0.004;0.794;0.953	T	0.79813	-0.1645	9	.	.	.	.	14.7505	0.69522	0.0:0.0:0.8554:0.1446	.	902;907;916;917;913;913;1310;1323;1323	Q3KPJ2;Q3KPI9;Q3KPJ0;Q3KPJ1;F5GWT7;F5GWY7;G3XAE2;Q2HXI4;P23468	.;.;.;.;.;.;.;.;PTPRD_HUMAN	C	1323;1323;1310;1301;917;902;913;913;794;1323;916;902	ENSP00000370593:R1323C;ENSP00000348812:R1323C;ENSP00000353187:R1310C;ENSP00000351293:R1301C;ENSP00000347373:R917C;ENSP00000380741:R902C;ENSP00000380735:R913C;ENSP00000440515:R913C;ENSP00000438164:R1323C;ENSP00000417093:R916C;ENSP00000380731:R902C	.	R	-	1	0	PTPRD	8439746	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.797000	0.69087	2.788000	0.95919	0.650000	0.86243	CGC		0.463	PTPRD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055395.3			26	117	0	0	0	1	0	26	117					A	8449746	G	A	8449746	3	1	305	1	0	0	0	0	1	0	0	0	12799	1087	38	1	1869	1	PTPRD	9	8449746	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	2120846	8449746	132763685	509	15026											
PTPRD	5789	broad.mit.edu	37	chr9	8524957	8524957	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aattggcaggagcggaatagCgagtgcccgcgctgttggtg	8	8	17	8	4	0	0	0	0	0	0	0	3	0	2	1	4	3	3	1	4	3	3			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr9:8524957C>T	ENST00000381196.4	-	15	1190	c.647G>A	c.(646-648)cGc>cAc	p.R216H	PTPRD_ENST00000358503.5_Missense_Mutation_p.R207H|PTPRD_ENST00000355233.5_Missense_Mutation_p.R216H|PTPRD_ENST00000486161.1_Missense_Mutation_p.R216H|PTPRD_ENST00000540109.1_Missense_Mutation_p.R216H|PTPRD_ENST00000397617.3_Missense_Mutation_p.R210H|PTPRD_ENST00000356435.5_Missense_Mutation_p.R216H|PTPRD_ENST00000397606.3_Missense_Mutation_p.R210H|PTPRD_ENST00000397611.3_Missense_Mutation_p.R213H|PTPRD_ENST00000537002.1_Missense_Mutation_p.R213H|PTPRD_ENST00000360074.4_Missense_Mutation_p.R207H	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	216	Ig-like C2-type 2.				heterophilic cell-cell adhesion (GO:0007157)|neuron differentiation (GO:0030182)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|positive regulation of dendrite morphogenesis (GO:0050775)|presynaptic membrane assembly (GO:0097105)|protein dephosphorylation (GO:0006470)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	cell adhesion molecule binding (GO:0050839)|receptor binding (GO:0005102)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		agcggaatagcGAGTGCCCGC	0.488										TSP Lung(15;0.13)																												ENST00000381196.4																			0				NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168						c.(646-648)cGc>cAc		protein tyrosine phosphatase, receptor type, D							123	124	123					9																	8524957		2203	4300	6503	SO:0001583	missense	5789				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr9:8524957C>T	X54133	CCDS6472.1, CCDS43786.1, CCDS6472.2, CCDS55288.1, CCDS55289.1, CCDS55290.1, CCDS75813.1	9p24.1-p23	2013-02-11			ENSG00000153707	ENSG00000153707		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	9668	protein-coding gene	gene with protein product		601598				7896816, 8355697	Standard	NM_002839		Approved	PTPD, HPTP	uc003zkk.3	P23468	OTTHUMG00000021005	ENST00000381196.4:c.647G>A	9.37:g.8524957C>T	ENSP00000370593:p.Arg216His	TSP Lung(15;0.13)				PTPRD_ENST00000356435.5_Missense_Mutation_p.R216H|PTPRD_ENST00000358503.5_Missense_Mutation_p.R207H|PTPRD_ENST00000355233.5_Missense_Mutation_p.R216H|PTPRD_ENST00000397606.3_Missense_Mutation_p.R210H|PTPRD_ENST00000397611.3_Missense_Mutation_p.R213H|PTPRD_ENST00000540109.1_Missense_Mutation_p.R216H|PTPRD_ENST00000397617.3_Missense_Mutation_p.R210H|PTPRD_ENST00000360074.4_Missense_Mutation_p.R207H|PTPRD_ENST00000537002.1_Missense_Mutation_p.R213H|PTPRD_ENST00000486161.1_Missense_Mutation_p.R216H	p.R216H	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)	15	1190	-		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)	216			Ig-like C2-type 2.		B1ALA0|F5GWT7|Q3KPJ0|Q3KPJ1|Q3KPJ2	Missense_Mutation	SNP	ENST00000381196.4	37	c.647G>A	CCDS43786.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.107305	0.77096	.	.	ENSG00000153707	ENST00000381196;ENST00000356435;ENST00000360074;ENST00000358503;ENST00000355233;ENST00000397617;ENST00000397611;ENST00000537002;ENST00000346816;ENST00000540109;ENST00000486161;ENST00000397606	T;T;T;T;T;T;T;T;T;T;T	0.67698	-0.28;-0.28;-0.28;-0.28;-0.28;-0.28;-0.28;-0.28;-0.28;-0.28;-0.28	5.96	5.96	0.96718	Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.101607	0.64402	D	0.000001	T	0.76449	0.3989	L	0.35644	1.08	0.54753	D	0.999981	D;D;D;D;D;D;P;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;0.795;1.0;1.0	D;D;D;D;D;D;B;D;D	0.91635	0.998;0.999;0.996;0.998;0.986;0.998;0.049;0.987;0.991	T	0.72147	-0.4378	9	.	.	.	.	20.4082	0.99013	0.0:1.0:0.0:0.0	.	210;210;216;216;213;213;207;216;216	Q3KPJ2;Q3KPI9;Q3KPJ0;Q3KPJ1;F5GWT7;F5GWY7;G3XAE2;Q2HXI4;P23468	.;.;.;.;.;.;.;.;PTPRD_HUMAN	H	216;216;207;207;216;210;213;213;216;216;216;210	ENSP00000370593:R216H;ENSP00000348812:R216H;ENSP00000353187:R207H;ENSP00000351293:R207H;ENSP00000347373:R216H;ENSP00000380741:R210H;ENSP00000380735:R213H;ENSP00000440515:R213H;ENSP00000438164:R216H;ENSP00000417093:R216H;ENSP00000380731:R210H	.	R	-	2	0	PTPRD	8514957	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.767000	0.85331	2.814000	0.96858	0.655000	0.94253	CGC		0.488	PTPRD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055395.3			8	170	0	0	0	1	0	8	170					T	8524957	C	T	8524957	3	4	305	1	0	0	0	0	1	0	0	0	12799	768	27	1	5275	1	PTPRD	9	8524957	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	75211	8524957	132688474	510	15027											
ADAMTSL1	92949	broad.mit.edu	37	chr9	18622252	18622252	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcttgttagattgttggctgCgatcaccagctgggaagcac	8	12	12	9	1	2	1	1	0	1	1	2	3	2	2	1	2	3	5	1	2	2	4	rs374475613		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr9:18622252C>T	ENST00000380548.4	+	5	825	c.486C>T	c.(484-486)tgC>tgT	p.C162C	ADAMTSL1_ENST00000380570.4_Silent_p.C162C|ADAMTSL1_ENST00000276935.6_Silent_p.C162C|ADAMTSL1_ENST00000327883.7_Silent_p.C162C|ADAMTSL1_ENST00000380566.4_Silent_p.C162C	NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1	162						proteinaceous extracellular matrix (GO:0005578)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		TTGTTGGCTGCGATCACCAGC	0.512																																						ENST00000380548.4																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42						c.(484-486)tgC>tgT		ADAMTS-like 1		C	,	0,4406		0,0,2203	103	92	96		486,486	-7.9	0.8	9		96	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	ADAMTSL1	NM_001040272.5,NM_052866.4	,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,	162/1763,162/526	18622252	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	92949					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding	g.chr9:18622252C>T	AF176313	CCDS6485.1, CCDS47954.1	9p21.3	2013-01-11			ENSG00000178031	ENSG00000178031		"Immunoglobulin superfamily / I-set domain containing"	14632	protein-coding gene	gene with protein product	"punctin"	609198	"chromosome 9 open reading frame 94"	C9orf94		9628581, 11805097	Standard	NM_001040272		Approved	ADAMTSR1, FLJ35283	uc003zne.4	Q8N6G6	OTTHUMG00000019604	ENST00000380548.4:c.486C>T	9.37:g.18622252C>T						ADAMTSL1_ENST00000380566.4_Silent_p.C162C|ADAMTSL1_ENST00000380570.4_Silent_p.C162C|ADAMTSL1_ENST00000327883.7_Silent_p.C162C|ADAMTSL1_ENST00000276935.6_Silent_p.C162C	p.C162C	NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN		GBM - Glioblastoma multiforme(50;1.29e-17)	5	825	+			162					A6PVN1|A8K7E1|Q496M6|Q496M8|Q5T708|Q5VZT8|Q8NAI9|Q96RW4|Q9BXY3	Silent	SNP	ENST00000380548.4	37	c.486C>T	CCDS47954.1																																																																																				0.512	ADAMTSL1-012	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401206.1			6	68	0	0	0	1	0	6	68					T	18622252	C	T	18622252	2	4	305	1	0	0	0	0	0	0	0	1	274	776	27	1		1	ADAMTSL1	9	18622252	Silent	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	10097295	18622252	122591179	511	15028											
C9orf24	84688	broad.mit.edu	37	chr9	34381368	34381368	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccccactaccactctttaccGtaggcattgagccgctccgg	7	9	8	17	3	1	1	0	1	1	0	2	1	2	1	6	2	3	3	6	2	3	5			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr9:34381368G>A	ENST00000297623.2	-	4	669	c.471C>T	c.(469-471)taC>taT	p.Y157Y	C9orf24_ENST00000379133.3_Splice_Site_p.Y22Y|C9orf24_ENST00000481295.1_5'Flank|C9orf24_ENST00000379127.1_Splice_Site_p.Y22Y|C9orf24_ENST00000379126.3_Splice_Site_p.Y22Y|C9orf24_ENST00000379124.1_Splice_Site_p.Y22Y	NM_032596.3	NP_115985.2	Q8NCR6	SMRP1_HUMAN	chromosome 9 open reading frame 24	157					cell differentiation (GO:0030154)|cellular protein complex assembly (GO:0043623)|spermatogenesis (GO:0007283)	manchette (GO:0002177)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)				endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)	5			LUSC - Lung squamous cell carcinoma(29;0.0107)	GBM - Glioblastoma multiforme(74;0.123)		ACTCTTTACCGTAGGCATTGA	0.627																																						ENST00000297623.2																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)	5						c.e4+1		chromosome 9 open reading frame 24							143	130	135					9																	34381368		2203	4300	6503	SO:0001630	splice_region_variant	84688							g.chr9:34381368G>A	BC029484	CCDS6553.1, CCDS6554.1, CCDS6555.1, CCDS59121.1	9p11.2	2013-01-11			ENSG00000164972	ENSG00000164972			19919	protein-coding gene	gene with protein product	"ciliated bronchial epithelium 1", "spermatid-specific manchette-related protein 1"					12029067	Standard	NM_147168		Approved	bA573M23.4, NYD-SP22, MGC32921, MGC33614, CBE1, SMRP1	uc003zuh.1	Q8NCR6	OTTHUMG00000000437	ENST00000297623.2:c.472+1C>T	9.37:g.34381368G>A						C9orf24_ENST00000379124.1_Splice_Site_p.Y22_splice|C9orf24_ENST00000379127.1_Splice_Site_p.Y22_splice|C9orf24_ENST00000379133.3_Splice_Site_p.Y22_splice|C9orf24_ENST00000379126.3_Splice_Site_p.Y22_splice	p.Y157_splice	NM_032596.3	NP_115985.2	Q8NCR6	CI024_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0107)	GBM - Glioblastoma multiforme(74;0.123)	4	669	-			157					Q5T598|Q5T599|Q5T5A0|Q8N9G4|Q96KD1|Q96LN1	Splice_Site	SNP	ENST00000297623.2	37	c.472_splice	CCDS6554.1																																																																																				0.627	C9orf24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001098.3	NM_147169	Silent	55	135	0	0	0	1	0	55	135					A	34381368	G	A	34381368	5	1	305	1	0	0	0	0	0	0	1	0	2475	1159	40	1	439	1	C9orf24	9	34381368	Splice_Site	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	15759116	34381368	106832063	512	15029											
DNAI1	27019	broad.mit.edu	37	chr9	34517405	34517405	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caccccatcatcattgtgggCgatgaccgtgggcacatcat	9	9	10	13	2	3	1	3	1	0	0	3	2	3	1	3	2	0	1	3	2	0	1			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr9:34517405C>T	ENST00000242317.4	+	19	2112	c.1941C>T	c.(1939-1941)ggC>ggT	p.G647G		NM_001281428.1|NM_012144.2	NP_001268357.1|NP_036276.1	Q9UI46	DNAI1_HUMAN	dynein, axonemal, intermediate chain 1	647					cell projection organization (GO:0030030)|epithelial cilium movement (GO:0003351)|metabolic process (GO:0008152)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	motor activity (GO:0003774)			autonomic_ganglia(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(13)|prostate(1)|skin(2)|urinary_tract(1)	34	all_epithelial(49;0.244)		LUSC - Lung squamous cell carcinoma(29;0.0107)|STAD - Stomach adenocarcinoma(86;0.212)	GBM - Glioblastoma multiforme(74;0.0222)		TCATTGTGGGCGATGACCGTG	0.532									Kartagener syndrome																													ENST00000242317.4																			0				autonomic_ganglia(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(13)|prostate(1)|skin(2)|urinary_tract(1)	34						c.(1939-1941)ggC>ggT		dynein, axonemal, intermediate chain 1							156	119	132					9																	34517405		2203	4300	6503	SO:0001819	synonymous_variant	27019	Kartagener syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	cell projection organization	cilium axoneme|cytoplasm|dynein complex|microtubule	motor activity	g.chr9:34517405C>T	AF091619	CCDS6557.1, CCDS75829.1	9p13.3	2013-02-19	2006-09-04		ENSG00000122735	ENSG00000122735		"Axonemal dyneins", "WD repeat domain containing"	2954	protein-coding gene	gene with protein product		604366	"dynein, axonemal, intermediate polypeptide 1"			10577904, 21953912	Standard	NM_012144		Approved	DIC1, PCD, CILD1	uc003zum.3	Q9UI46	OTTHUMG00000019825	ENST00000242317.4:c.1941C>T	9.37:g.34517405C>T							p.G647G	NM_012144.2	NP_036276.1	Q9UI46	DNAI1_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0107)|STAD - Stomach adenocarcinoma(86;0.212)	GBM - Glioblastoma multiforme(74;0.0222)	19	2112	+	all_epithelial(49;0.244)		647					B7Z7U1|Q5T8G7|Q8NHQ7|Q9UEZ8	Silent	SNP	ENST00000242317.4	37	c.1941C>T	CCDS6557.1																																																																																				0.532	DNAI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052192.1			13	37	0	0	0	1	0	13	37					T	34517405	C	T	34517405	2	4	305	1	0	0	0	0	0	0	0	1	4609	755	27	1		1	DNAI1	9	34517405	Silent	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	136037	34517405	106696026	513	15030											
SPAG8	4882	broad.mit.edu	37	chr9	35809979	35809979	+	IGR	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tccaccacccagccttcctcCgggacagggaagggaagata	11	5	11	14	1	0	1	0	0	0	1	3	4	3	4	6	3	1	0	6	3	3	2			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr9:35809979C>T	ENST00000342694.2	+	0	3686				SPAG8_ENST00000484764.1_Missense_Mutation_p.G464R|AL133410.1_ENST00000582432.1_RNA|SPAG8_ENST00000396638.2_Missense_Mutation_p.G472R|SPAG8_ENST00000479751.1_5'UTR|HINT2_ENST00000474908.1_5'Flank|SPAG8_ENST00000340291.2_Intron	NM_003995.3	NP_003986.2	P20594	ANPRB_HUMAN	natriuretic peptide receptor 2						bone development (GO:0060348)|cell surface receptor signaling pathway (GO:0007166)|cellular response to granulocyte macrophage colony-stimulating factor stimulus (GO:0097011)|cGMP biosynthetic process (GO:0006182)|intracellular signal transduction (GO:0035556)|negative regulation of meiotic cell cycle (GO:0051447)|negative regulation of oocyte maturation (GO:1900194)|ossification (GO:0001503)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of blood pressure (GO:0008217)|signal transduction (GO:0007165)|single organism reproductive process (GO:0044702)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|hormone binding (GO:0042562)|natriuretic peptide receptor activity (GO:0016941)|peptide hormone binding (GO:0017046)|protein kinase activity (GO:0004672)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(2)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	45	all_epithelial(49;0.161)		LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194)		Erythrityl Tetranitrate(DB01613)|Nesiritide(DB04899)	AGCCTTCCTCCGGGACAGGGA	0.507																																						ENST00000484764.1																			0				NS(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(1)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						c.(1390-1392)Gga>Aga		sperm associated antigen 8							151	159	156					9																	35809979		2000	4190	6190	SO:0001628	intergenic_variant	26206					acrosomal vesicle|membrane		g.chr9:35809979C>T	AJ005282	CCDS6590.1	9p21-p12	2014-03-03	2014-03-03		ENSG00000159899	ENSG00000159899			7944	protein-coding gene	gene with protein product	"guanylate cyclase B"	108961	"acromesomelic dysplasia, Maroteaux type", "atrionatriuretic peptide receptor B", "natriuretic peptide receptor B"	ANPRB, NPRB, AMDM		9634515, 15146390	Standard	XM_005251478		Approved	GUCY2B, ANPb	uc003zyd.3	P20594	OTTHUMG00000019871		9.37:g.35809979C>T						SPAG8_ENST00000396638.2_Missense_Mutation_p.G472R|SPAG8_ENST00000479751.1_5'UTR|SPAG8_ENST00000340291.2_Intron	p.G464R			Q99932	SPAG8_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194)		7	1430	-	all_epithelial(49;0.161)		99					B0ZBF2|B0ZBF3|D3DRP3|D3DRP4|O60871|Q4VAK7|Q5TCV2|Q8TA93|Q9UQ50	Missense_Mutation	SNP	ENST00000342694.2	37	c.1390G>A	CCDS6590.1	.	.	.	.	.	.	.	.	.	.	C	5.813	0.334329	0.11013	.	.	ENSG00000137098	ENST00000484764;ENST00000396638	T;T	0.53423	0.64;0.62	5.21	1.28	0.21552	.	.	.	.	.	T	0.35158	0.0922	L	0.36672	1.1	0.24112	N	0.995831	B	0.29301	0.241	B	0.22386	0.039	T	0.21586	-1.0241	9	0.87932	D	0	.	9.2101	0.37313	0.0:0.6724:0.0:0.3276	.	472	E9PDV6	.	R	464;472	ENSP00000418072:G464R;ENSP00000379878:G472R	ENSP00000379878:G472R	G	-	1	0	SPAG8	35799979	0.099000	0.21834	0.950000	0.38849	0.005000	0.04900	0.165000	0.16564	0.058000	0.16222	-0.797000	0.03246	GGA		0.507	NPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052345.1			59	165	0	0	0	1	0	59	165					T	35809979	C	T	35809979	1	4	305	0	1	0	0	0	0	0	0	0	14984	661	23	2		2	SPAG8	9	35809979	IGR	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	1292574	35809979	105403452	514	15031											
CLTA	1211	broad.mit.edu	37	chr9	36211633	36211633	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctttgtaaatgacattgaCgagtcgtccccaggcactga	10	10	10	11	2	0	3	0	3	0	0	2	4	1	3	3	1	0	2	3	1	2	3			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr9:36211633C>T	ENST00000242285.6	+	7	729	c.609C>T	c.(607-609)gaC>gaT	p.D203D	CLTA_ENST00000540080.1_Silent_p.D121D|CLTA_ENST00000345519.5_Silent_p.D173D|CLTA_ENST00000466396.1_Silent_p.D151D|CLTA_ENST00000433436.2_Silent_p.D203D|CLTA_ENST00000538225.1_Silent_p.D185D|CLTA_ENST00000470744.1_Silent_p.D185D|CLTA_ENST00000396603.2_Silent_p.D191D			P09496	CLCA_HUMAN	clathrin, light chain A	203					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon guidance (GO:0007411)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|neurotrophin TRK receptor signaling pathway (GO:0048011)|post-Golgi vesicle-mediated transport (GO:0006892)	clathrin coat (GO:0030118)|clathrin coat of coated pit (GO:0030132)|clathrin coat of trans-Golgi network vesicle (GO:0030130)|clathrin complex (GO:0071439)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)	clathrin heavy chain binding (GO:0032050)|peptide binding (GO:0042277)|structural molecule activity (GO:0005198)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(1)	6			STAD - Stomach adenocarcinoma(86;0.228)			ATGACATTGACGAGTCGTCCC	0.537																																						ENST00000433436.2																			0				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(1)	6						c.(607-609)gaC>gaT		clathrin, light chain A							106	101	103					9																	36211633		2203	4300	6503	SO:0001819	synonymous_variant	1211				axon guidance|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|post-Golgi vesicle-mediated transport	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|cytosol	structural molecule activity	g.chr9:36211633C>T		CCDS6600.1, CCDS6601.1, CCDS43802.1, CCDS55306.1, CCDS55307.1	9p13.3	2010-05-11	2010-05-11		ENSG00000122705	ENSG00000122705			2090	protein-coding gene	gene with protein product		118960	"clathrin, light polypeptide (Lca)"			7713494	Standard	NM_007096		Approved	Lca	uc003zzc.3	P09496	OTTHUMG00000019896	ENST00000242285.6:c.609C>T	9.37:g.36211633C>T						CLTA_ENST00000345519.5_Silent_p.D173D|CLTA_ENST00000538225.1_Silent_p.D185D|CLTA_ENST00000396603.2_Silent_p.D191D|CLTA_ENST00000470744.1_Silent_p.D185D|CLTA_ENST00000466396.1_Silent_p.D151D|CLTA_ENST00000540080.1_Silent_p.D121D|CLTA_ENST00000242285.6_Silent_p.D203D	p.D203D	NM_007096.3	NP_009027.1	P09496	CLCA_HUMAN	STAD - Stomach adenocarcinoma(86;0.228)		7	810	+			203					A8K4W3|B4DIN1|F5H6N3|Q2XPN5|Q53XZ1	Silent	SNP	ENST00000242285.6	37	c.609C>T	CCDS6601.1																																																																																				0.537	CLTA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052405.1	NM_007096		40	125	0	0	0	1	0	40	125					T	36211633	C	T	36211633	2	4	305	1	0	0	0	0	0	0	0	1	3564	535	19	1		1	CLTA	9	36211633	Silent	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	401654	36211633	105001798	515	15032											
TJP2	9414	broad.mit.edu	37	chr9	71861684	71861684	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcagcatcagcaaggagaagCggtttgggtctctgaaggaa	12	8	14	7	1	3	2	2	1	1	1	4	4	3	3	0	4	3	3	0	4	4	1			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr9:71861684C>T	ENST00000377245.4	+	18	2853	c.2645C>T	c.(2644-2646)gCg>gTg	p.A882V	TJP2_ENST00000453658.2_Missense_Mutation_p.A859V|TJP2_ENST00000535702.1_Missense_Mutation_p.A886V|TJP2_ENST00000498204.1_3'UTR|TJP2_ENST00000348208.4_Missense_Mutation_p.A882V|TJP2_ENST00000265384.7_Missense_Mutation_p.A882V|TJP2_ENST00000539225.1_Missense_Mutation_p.A913V	NM_004817.3	NP_004808.2	Q9UDY2	ZO2_HUMAN	tight junction protein 2	882					apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|hippo signaling (GO:0035329)|nucleotide phosphorylation (GO:0046939)|response to organic substance (GO:0010033)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	guanylate kinase activity (GO:0004385)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(5)|lung(9)|prostate(3)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	35						CAAGGAGAAGCGGTTTGGGTC	0.418																																						ENST00000377245.4																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(5)|lung(9)|prostate(3)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	35						c.(2644-2646)gCg>gTg		tight junction protein 2							109	104	106					9																	71861684		2203	4300	6503	SO:0001583	missense	9414				cellular component disassembly involved in apoptosis	adherens junction|cytoplasm|nucleus|tight junction	guanylate kinase activity|protein binding	g.chr9:71861684C>T	L27476	CCDS6627.1, CCDS6628.1, CCDS55314.1, CCDS55315.1, CCDS55316.1, CCDS55317.1	9q13-q21	2012-07-12	2012-07-12		ENSG00000119139	ENSG00000119139			11828	protein-coding gene	gene with protein product	"Friedreich ataxia region gene X104 (tight junction protein ZO-2)", "zona occludens 2"	607709	"deafness, autosomal dominant 51"	DFNA51		7951235, 20602916	Standard	NM_001170630		Approved	ZO-2, X104, ZO2	uc011lrv.2	Q9UDY2	OTTHUMG00000019978	ENST00000377245.4:c.2645C>T	9.37:g.71861684C>T	ENSP00000366453:p.Ala882Val					TJP2_ENST00000265384.7_Missense_Mutation_p.A882V|TJP2_ENST00000498204.1_3'UTR|TJP2_ENST00000453658.2_Missense_Mutation_p.A859V|TJP2_ENST00000348208.4_Missense_Mutation_p.A882V|TJP2_ENST00000539225.1_Missense_Mutation_p.A913V|TJP2_ENST00000535702.1_Missense_Mutation_p.A886V	p.A882V	NM_004817.3	NP_004808.2	Q9UDY2	ZO2_HUMAN			18	2853	+			882					A2A3H9|B7Z2R8|B7Z7T6|F5H301|F5H886|Q15883|Q5VXL0|Q5VXL1|Q8N756|Q8NI14|Q99839|Q9UDY0|Q9UDY1	Missense_Mutation	SNP	ENST00000377245.4	37	c.2645C>T	CCDS6627.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.168643	0.78339	.	.	ENSG00000119139	ENST00000453658;ENST00000377245;ENST00000348208;ENST00000265384;ENST00000535702;ENST00000539225	T;T;T;T;T;T	0.16324	2.35;2.35;2.35;2.35;2.35;2.35	5.15	5.15	0.70609	.	0.060656	0.64402	D	0.000003	T	0.40222	0.1108	L	0.59436	1.845	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;0.994;0.999;0.986;0.999;1.0	D;P;P;P;P;D	0.91635	0.997;0.861;0.891;0.469;0.891;0.999	T	0.02026	-1.1227	10	0.39692	T	0.17	.	19.1782	0.93612	0.0:1.0:0.0:0.0	.	913;886;859;882;882;882	F5H301;F5H886;B7Z2R3;Q9UDY2-2;Q9UDY2;Q9UDY2-5	.;.;.;.;ZO2_HUMAN;.	V	859;882;882;882;886;913	ENSP00000392178:A859V;ENSP00000366453:A882V;ENSP00000345893:A882V;ENSP00000265384:A882V;ENSP00000442090:A886V;ENSP00000438262:A913V	ENSP00000265384:A882V	A	+	2	0	TJP2	71051504	1.000000	0.71417	0.983000	0.44433	0.947000	0.59692	4.626000	0.61269	2.838000	0.97847	0.655000	0.94253	GCG		0.418	TJP2-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000052572.2	NM_201629		18	69	0	0	0	1	0	18	69					T	71861684	C	T	71861684	3	4	305	1	0	0	0	0	1	0	0	0	15927	768	27	1	2872	1	TJP2	9	71861684	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	35650051	71861684	69351747	516	15033											
TRPM3	80036	broad.mit.edu	37	chr9	73152135	73152135	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcggcgtccgtgcagtctgaCgaggtcctcgagcggatttt	5	10	15	11	6	1	1	0	1	1	0	4	4	3	2	2	3	2	1	2	3	0	2	rs188521068		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr9:73152135C>T	ENST00000377111.2	-	25	4101	c.3858G>A	c.(3856-3858)tcG>tcA	p.S1286S	TRPM3_ENST00000408909.2_Silent_p.S1145S|TRPM3_ENST00000396292.4_Silent_p.S1158S|TRPM3_ENST00000423814.3_Silent_p.S1313S|TRPM3_ENST00000357533.2_Silent_p.S1290S|TRPM3_ENST00000358082.3_Silent_p.S1148S|TRPM3_ENST00000396285.1_Silent_p.S1145S|TRPM3_ENST00000377106.1_Silent_p.S1158S|TRPM3_ENST00000377110.3_Silent_p.S1286S|TRPM3_ENST00000377105.1_Silent_p.S1145S|TRPM3_ENST00000360823.2_Silent_p.S1148S|TRPM3_ENST00000396280.5_Silent_p.S1135S	NM_001007471.2	NP_001007472.2	Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel, subfamily M, member 3	1311					calcium ion transmembrane transport (GO:0070588)|cation transport (GO:0006812)|detection of temperature stimulus (GO:0016048)|ion transmembrane transport (GO:0034220)|sensory perception of temperature stimulus (GO:0050951)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)			NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						TGCAGTCTGACGAGGTCCTCG	0.612													C|||	1	0.000199681	0	0	5008	,	,		16672	0.001		0	False		,,,				2504	0					ENST00000377110.2																			0				NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						c.(3856-3858)tcG>tcA		transient receptor potential cation channel, subfamily M, member 3							109	102	104					9																	73152135		2203	4300	6503	SO:0001819	synonymous_variant	80036					integral to membrane	calcium channel activity	g.chr9:73152135C>T	AB046836	CCDS6634.1, CCDS6635.1, CCDS6636.1, CCDS6637.1, CCDS43835.1, CCDS65064.1	9q21.11	2011-12-14			ENSG00000083067	ENSG00000083067		"Voltage-gated ion channels / Transient receptor potential cation channels"	17992	protein-coding gene	gene with protein product	"melastatin 2"	608961				16382100	Standard	NM_206946		Approved	KIAA1616, LTRPC3, GON-2	uc004aid.3	Q9HCF6	OTTHUMG00000019997	ENST00000377111.2:c.3858G>A	9.37:g.73152135C>T						TRPM3_ENST00000377105.1_Silent_p.S1145S|TRPM3_ENST00000396285.1_Silent_p.S1145S|TRPM3_ENST00000358082.3_Silent_p.S1148S|TRPM3_ENST00000408909.2_Silent_p.S1145S|TRPM3_ENST00000377111.2_Silent_p.S1286S|TRPM3_ENST00000396280.5_Silent_p.S1135S|TRPM3_ENST00000396292.4_Silent_p.S1158S|TRPM3_ENST00000377106.1_Silent_p.S1158S|TRPM3_ENST00000360823.2_Silent_p.S1148S|TRPM3_ENST00000357533.2_Silent_p.S1290S|TRPM3_ENST00000423814.3_Silent_p.S1313S	p.S1286S	NM_001007471.2	NP_001007472.2	Q9HCF6	TRPM3_HUMAN			25	4101	-			1311					A2A3F6|A9Z1Y7|Q5VW02|Q5VW03|Q5VW04|Q5W5T7|Q86SH0|Q86SH6|Q86UL0|Q86WK1|Q86WK2|Q86WK3|Q86WK4|Q86YZ9|Q86Z00|Q86Z01|Q9H0X2	Silent	SNP	ENST00000377111.2	37	c.3858G>A		1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	3.881	-0.025871	0.07589	.	.	ENSG00000083067	ENST00000396280	.	.	.	6.17	2.22	0.28083	.	.	.	.	.	T	0.56673	0.2001	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.47071	-0.9145	4	.	.	.	-22.5499	7.9126	0.29800	0.0618:0.4281:0.3882:0.1219	.	.	.	.	I	1135	.	.	V	-	1	0	TRPM3	72341955	0.505000	0.26131	0.998000	0.56505	0.909000	0.53808	-0.253000	0.08794	0.147000	0.19030	-0.850000	0.03035	GTC		0.612	TRPM3-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000214157.5	NM_206945		42	92	0	0	0	1	0	42	92					T	73152135	C	T	73152135	2	4	305	1	0	0	0	0	0	0	0	1	16584	523	19	1		1	TRPM3	9	73152135	Silent	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	1290451	73152135	68061296	517	15034											
TRPM6	140803	broad.mit.edu	37	chr9	77442715	77442715	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagtgtattttctgcagagAgaggtacttctccaggttcc	8	13	11	9	0	2	2	0	0	2	2	4	3	3	2	2	2	2	5	2	2	2	6			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr9:77442715A>G	ENST00000360774.1	-	7	1057	c.820T>C	c.(820-822)Tct>Cct	p.S274P	TRPM6_ENST00000361255.3_Missense_Mutation_p.S269P|TRPM6_ENST00000449912.2_Missense_Mutation_p.S269P|TRPM6_ENST00000451710.3_Missense_Mutation_p.S274P|TRPM6_ENST00000376871.3_Missense_Mutation_p.S274P|TRPM6_ENST00000376864.4_Missense_Mutation_p.S274P|TRPM6_ENST00000359047.2_Missense_Mutation_p.S274P|TRPM6_ENST00000376872.3_Missense_Mutation_p.S274P|TRPM6_ENST00000483186.1_5'UTR	NM_017662.4	NP_060132.3	Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	274					calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|response to toxic substance (GO:0009636)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium channel activity (GO:0005262)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						TTCTGCAGAGAGAGGTACTTC	0.512																																						ENST00000451710.3																			0				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						c.(820-822)Tct>Cct		transient receptor potential cation channel, subfamily M, member 6							131	120	124					9																	77442715		2203	4300	6503	SO:0001583	missense	140803				response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr9:77442715A>G	AK026281	CCDS6647.1, CCDS55318.1, CCDS55319.1	9q21.13	2011-12-14	2003-12-02		ENSG00000119121	ENSG00000119121		"Voltage-gated ion channels / Transient receptor potential cation channels"	17995	protein-coding gene	gene with protein product		607009	"hypomagnesemia, secondary hypocalcemia"	HOMG, HSH		10021370, 12032570, 16382100	Standard	NM_017662		Approved	CHAK2, FLJ22628	uc004ajk.1	Q9BX84	OTTHUMG00000020027	ENST00000360774.1:c.820T>C	9.37:g.77442715A>G	ENSP00000354006:p.Ser274Pro					TRPM6_ENST00000376864.4_Missense_Mutation_p.S274P|TRPM6_ENST00000376872.3_Missense_Mutation_p.S274P|TRPM6_ENST00000361255.3_Missense_Mutation_p.S269P|TRPM6_ENST00000359047.2_Missense_Mutation_p.S274P|TRPM6_ENST00000360774.1_Missense_Mutation_p.S274P|TRPM6_ENST00000483186.1_5'UTR|TRPM6_ENST00000449912.2_Missense_Mutation_p.S269P|TRPM6_ENST00000376871.3_Missense_Mutation_p.S274P	p.S274P			Q9BX84	TRPM6_HUMAN			7	1057	-			274					Q6VPR8|Q6VPR9|Q6VPS0|Q6VPS1|Q6VPS2	Missense_Mutation	SNP	ENST00000360774.1	37	c.820T>C	CCDS6647.1	.	.	.	.	.	.	.	.	.	.	A	18.40	3.615728	0.66672	.	.	ENSG00000119121	ENST00000360774;ENST00000451710;ENST00000376872;ENST00000376871;ENST00000449912;ENST00000361255;ENST00000376870;ENST00000376864;ENST00000359047	T;T;T;T;T;T;T;T	0.63913	-0.07;-0.07;-0.07;-0.07;-0.07;-0.07;-0.07;3.01	5.19	4.01	0.46588	.	0.266592	0.44688	D	0.000422	T	0.81113	0.4755	M	0.90082	3.085	0.44061	D	0.996806	P;D;D;D;D;D	0.89917	0.581;0.958;0.958;0.999;0.997;1.0	B;P;P;D;D;D	0.74348	0.062;0.663;0.663;0.974;0.947;0.983	D	0.83892	0.0285	10	0.87932	D	0	.	12.1157	0.53863	0.8562:0.1438:0.0:0.0	.	274;274;274;274;274;269	Q9BX84-7;Q9BX84-6;Q9BX84-5;Q96LV9;Q9BX84;Q9BX84-3	.;.;.;.;TRPM6_HUMAN;.	P	274;274;274;274;269;269;273;274;274	ENSP00000354006:S274P;ENSP00000407341:S274P;ENSP00000366068:S274P;ENSP00000366067:S274P;ENSP00000396672:S269P;ENSP00000354962:S269P;ENSP00000366060:S274P;ENSP00000351942:S274P	ENSP00000351942:S274P	S	-	1	0	TRPM6	76632535	0.077000	0.21312	0.919000	0.36401	0.975000	0.68041	0.832000	0.27490	0.868000	0.35678	0.482000	0.46254	TCT		0.512	TRPM6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000052693.1	NM_017662		21	67	0	0	0	1	0	21	67					G	77442715	A	G	77442715	3	3	305	1	0	0	0	0	1	0	0	0	16587	304	11	4	5380	4	TRPM6	9	77442715	Missense_Mutation	SNP	A	TCGA-KK-A59V-01A-11D-A29Q-08	4290580	77442715	63770716	518	15035											
PCSK5	5125	broad.mit.edu	37	chr9	78686713	78686713	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttagcttcaacccccagcacGtgcacatttacagcgccagc	10	8	7	16	2	1	0	1	0	0	0	1	0	1	0	3	0	7	3	3	0	3	4			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr9:78686713G>A	ENST00000545128.1	+	7	1331	c.793G>A	c.(793-795)Gtg>Atg	p.V265M	PCSK5_ENST00000376752.4_Missense_Mutation_p.V265M|PCSK5_ENST00000376767.3_Missense_Mutation_p.V265M	NM_001190482.1	NP_001177411.1	Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5	265	Peptidase S8.				anterior/posterior pattern specification (GO:0009952)|cell-cell signaling (GO:0007267)|cytokine biosynthetic process (GO:0042089)|embryo implantation (GO:0007566)|embryonic digestive tract development (GO:0048566)|embryonic skeletal system development (GO:0048706)|heart development (GO:0007507)|kidney development (GO:0001822)|limb morphogenesis (GO:0035108)|nerve growth factor processing (GO:0032455)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptide biosynthetic process (GO:0043043)|peptide hormone processing (GO:0016486)|protein processing (GO:0016485)|renin secretion into blood stream (GO:0002001)|respiratory tube development (GO:0030323)|signal peptide processing (GO:0006465)|viral life cycle (GO:0019058)	extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|secretory granule (GO:0030141)	peptidase activity (GO:0008233)|peptide binding (GO:0042277)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						CCCCCAGCACGTGCACATTTA	0.542																																						ENST00000545128.1																			0				NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						c.(793-795)Gtg>Atg		proprotein convertase subtilisin/kexin type 5							130	133	132					9																	78686713		2203	4300	6503	SO:0001583	missense	5125				anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	extracellular space|Golgi lumen|stored secretory granule	peptide binding|serine-type endopeptidase activity	g.chr9:78686713G>A		CCDS6652.1, CCDS55320.1	9q21.13	2013-09-24			ENSG00000099139	ENSG00000099139			8747	protein-coding gene	gene with protein product		600488				7782070	Standard	NM_001190482		Approved	PC5, PC6, SPC6	uc004akc.2	Q92824	OTTHUMG00000020039	ENST00000545128.1:c.793G>A	9.37:g.78686713G>A	ENSP00000446280:p.Val265Met					PCSK5_ENST00000376767.3_Missense_Mutation_p.V265M|PCSK5_ENST00000376752.4_Missense_Mutation_p.V265M	p.V265M	NM_001190482.1	NP_001177411.1	Q92824	PCSK5_HUMAN			7	1331	+			265			Catalytic.		F5H2G7|Q13527|Q96EP4	Missense_Mutation	SNP	ENST00000545128.1	37	c.793G>A	CCDS55320.1	.	.	.	.	.	.	.	.	.	.	G	23.5	4.420485	0.83559	.	.	ENSG00000099139	ENST00000545128;ENST00000376767;ENST00000396108;ENST00000376752	D;D;D	0.82526	-1.62;-1.62;-1.62	5.66	5.66	0.87406	.	.	.	.	.	D	0.86406	0.5925	L	0.55743	1.74	0.39871	D	0.973518	D;D	0.67145	0.98;0.996	P;D	0.65874	0.866;0.939	D	0.87270	0.2285	9	0.87932	D	0	.	7.4001	0.26958	0.1997:0.0:0.8003:0.0	.	265;265	Q92824-2;B1AMG5	.;.	M	265	ENSP00000446280:V265M;ENSP00000365958:V265M;ENSP00000365943:V265M	ENSP00000365943:V265M	V	+	1	0	PCSK5	77876533	1.000000	0.71417	0.989000	0.46669	0.967000	0.64934	5.745000	0.68672	2.672000	0.90937	0.655000	0.94253	GTG		0.542	PCSK5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				5	232	0	0	0	1	0	5	232					A	78686713	G	A	78686713	3	1	305	1	0	0	0	0	1	0	0	0	11603	1145	40	1	819	1	PCSK5	9	78686713	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	1243998	78686713	62526718	519	15036											
KIF27	55582	broad.mit.edu	37	chr9	86465140	86465140	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttcacgaaccatattatcccGttccagaactttcattttca	11	15	3	12	2	3	1	3	0	0	1	5	2	5	1	3	0	2	1	3	0	4	7	rs370478477		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr9:86465140G>A	ENST00000297814.2	-	16	3573	c.3430C>T	c.(3430-3432)Cgg>Tgg	p.R1144W	RP11-575L7.4_ENST00000590368.1_RNA|RP11-575L7.4_ENST00000589817.1_RNA|RP11-575L7.4_ENST00000608866.1_RNA|RP11-575L7.4_ENST00000591217.1_RNA|RP11-575L7.4_ENST00000590813.1_RNA|RP11-575L7.4_ENST00000586206.1_RNA|KIF27_ENST00000413982.1_Missense_Mutation_p.R1078W|KIF27_ENST00000334204.2_Missense_Mutation_p.R1047W	NM_017576.1	NP_060046.1	Q86VH2	KIF27_HUMAN	kinesin family member 27	1144					ATP catabolic process (GO:0006200)|cilium assembly (GO:0042384)|epithelial cilium movement (GO:0003351)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|smoothened signaling pathway (GO:0007224)|ventricular system development (GO:0021591)	cilium (GO:0005929)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(7)|lung(17)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	43						ATATTATCCCGTTCCAGAACT	0.383																																						ENST00000297814.2																			0				breast(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(7)|lung(17)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	43						c.(3430-3432)Cgg>Tgg		kinesin family member 27		G	TRP/ARG	0,4406		0,0,2203	96	90	92		3430	3.7	1	9		92	1,8599	1.2+/-3.3	0,1,4299	no	missense	KIF27	NM_017576.1	101	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	1144/1402	86465140	1,13005	2203	4300	6503	SO:0001583	missense	55582				cilium assembly|microtubule-based movement	cilium|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr9:86465140G>A	AY237536	CCDS6665.1, CCDS65071.1, CCDS65072.1	9q21.32	2008-03-03			ENSG00000165115	ENSG00000165115		"Kinesins"	18632	protein-coding gene	gene with protein product		611253					Standard	NM_017576		Approved	DKFZp434D0917	uc004ana.4	Q86VH2	OTTHUMG00000020109	ENST00000297814.2:c.3430C>T	9.37:g.86465140G>A	ENSP00000297814:p.Arg1144Trp					RP11-575L7.4_ENST00000586206.1_RNA|RP11-575L7.4_ENST00000591217.1_RNA|RP11-575L7.4_ENST00000590813.1_RNA|KIF27_ENST00000413982.1_Missense_Mutation_p.R1078W|RP11-575L7.4_ENST00000590368.1_RNA|RP11-575L7.4_ENST00000589817.1_RNA|KIF27_ENST00000334204.2_Missense_Mutation_p.R1047W	p.R1144W	NM_017576.1	NP_060046.1	Q86VH2	KIF27_HUMAN			16	3573	-			1144					B2RTR8|Q5T6W0|Q86VH0|Q86VH1|Q9UF54	Missense_Mutation	SNP	ENST00000297814.2	37	c.3430C>T	CCDS6665.1	.	.	.	.	.	.	.	.	.	.	G	19.40	3.820318	0.71028	0.0	1.16E-4	ENSG00000165115	ENST00000297814;ENST00000413982;ENST00000334204	T;T;T	0.70516	-0.45;-0.49;-0.37	4.58	3.65	0.41850	.	0.596048	0.14563	N	0.311905	T	0.65637	0.2710	L	0.27053	0.805	0.26047	N	0.981532	D;D;D	0.71674	0.998;0.987;0.978	P;P;B	0.50049	0.629;0.528;0.328	T	0.58923	-0.7550	10	0.87932	D	0	.	11.7378	0.51775	0.0:0.0:0.6793:0.3207	.	1047;1078;1144	Q86VH2-3;Q86VH2-2;Q86VH2	.;.;KIF27_HUMAN	W	1144;1078;1047	ENSP00000297814:R1144W;ENSP00000401688:R1078W;ENSP00000333928:R1047W	ENSP00000297814:R1144W	R	-	1	2	KIF27	85654960	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	2.368000	0.44222	1.086000	0.41228	0.436000	0.28706	CGG		0.383	KIF27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052861.1	NM_017576		32	69	0	0	0	1	0	32	69					A	86465140	G	A	86465140	3	1	305	1	0	0	0	0	1	0	0	0	8296	1144	40	1	787	1	KIF27	9	86465140	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	7778427	86465140	54748291	520	15037											
NOL8	55035	broad.mit.edu	37	chr9	95078067	95078067	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagaagtcttaaaaggtagAtttttaagtttctgagtatc	13	15	8	5	0	2	3	0	1	2	2	3	3	2	3	1	1	0	3	1	1	6	7			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr9:95078067A>T	ENST00000535387.1	-	6	839	c.840T>A	c.(838-840)aaT>aaA	p.N280K	NOL8_ENST00000542053.1_Missense_Mutation_p.N212K|NOL8_ENST00000358855.4_Missense_Mutation_p.N212K|NOL8_ENST00000442668.2_Missense_Mutation_p.N280K|NOL8_ENST00000545558.1_Missense_Mutation_p.N280K					nucleolar protein 8											endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)	16						TAAAAGGTAGATTTTTAAGTT	0.373																																						ENST00000545558.1																			0				endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)	16						c.(838-840)aaT>aaA		nucleolar protein 8							44	41	42					9																	95078067		1824	4088	5912	SO:0001583	missense	55035				DNA replication|positive regulation of cell growth	nucleolus	nucleotide binding|protein binding|RNA binding	g.chr9:95078067A>T	AB109030	CCDS47993.1, CCDS59135.1	9q22.32	2013-02-12	2004-01-12	2004-01-14	ENSG00000198000	ENSG00000198000		"RNA binding motif (RRM) containing"	23387	protein-coding gene	gene with protein product		611534	"chromosome 9 open reading frame 34"	C9orf34		12477932	Standard	NM_017948		Approved	FLJ20736, Nop132	uc022bjx.1	Q76FK4	OTTHUMG00000020221	ENST00000535387.1:c.840T>A	9.37:g.95078067A>T	ENSP00000441300:p.Asn280Lys					NOL8_ENST00000442668.2_Missense_Mutation_p.N280K|NOL8_ENST00000358855.4_Missense_Mutation_p.N212K|NOL8_ENST00000535387.1_Missense_Mutation_p.N280K|NOL8_ENST00000542053.1_Missense_Mutation_p.N212K	p.N280K			Q76FK4	NOL8_HUMAN			7	1332	-			280						Missense_Mutation	SNP	ENST00000535387.1	37	c.840T>A	CCDS47993.1	.	.	.	.	.	.	.	.	.	.	A	2.242	-0.373689	0.05034	.	.	ENSG00000198000	ENST00000442668;ENST00000375594;ENST00000358855;ENST00000545558;ENST00000535387;ENST00000542053;ENST00000432670;ENST00000433029	T;T;T;T;T;T;T	0.42513	2.56;2.57;2.56;2.78;2.57;2.3;0.97	5.46	-1.69	0.08186	.	1.423520	0.03747	N	0.255953	T	0.26159	0.0638	N	0.22421	0.69	0.09310	N	1	B	0.12630	0.006	B	0.10450	0.005	T	0.24297	-1.0164	10	0.52906	T	0.07	-6.4953	1.4311	0.02334	0.4316:0.223:0.2259:0.1195	.	280	Q76FK4	NOL8_HUMAN	K	280;282;212;280;280;212;280;280	ENSP00000401177:N280K;ENSP00000351723:N212K;ENSP00000441140:N280K;ENSP00000441300:N280K;ENSP00000440709:N212K;ENSP00000414112:N280K;ENSP00000412471:N280K	ENSP00000351723:N212K	N	-	3	2	NOL8	94117888	0.000000	0.05858	0.007000	0.13788	0.008000	0.06430	0.333000	0.19768	0.024000	0.15214	-0.323000	0.08544	AAT		0.373	NOL8-010	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000053082.2	NM_017948		10	31	0	0	0	1	0	10	31					T	95078067	A	T	95078067	3	4	305	1	0	0	0	0	1	0	0	0	10527	330	12	5	2707	5	NOL8	9	95078067	Missense_Mutation	SNP	A	TCGA-KK-A59V-01A-11D-A29Q-08	8612927	95078067	46135364	521	15038											
FGD3	89846	broad.mit.edu	37	chr9	95766401	95766401	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgctgccggagctgaagaCgcggatcacggaggagtggt	8	6	17	10	4	1	2	1	1	0	1	1	6	1	6	2	5	3	2	2	5	1	0			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr9:95766401C>T	ENST00000375482.3	+	5	1158	c.662C>T	c.(661-663)aCg>aTg	p.T221M	FGD3_ENST00000337352.6_Missense_Mutation_p.T221M|FGD3_ENST00000416701.2_Missense_Mutation_p.T221M	NM_001083536.1	NP_001077005.1	Q5JSP0	FGD3_HUMAN	FYVE, RhoGEF and PH domain containing 3	221	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|ruffle (GO:0001726)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|small GTPase binding (GO:0031267)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|urinary_tract(1)	17						GAGCTGAAGACGCGGATCACG	0.587											OREG0019318	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000375482.3																			0				breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|urinary_tract(1)	17						c.(661-663)aCg>aTg		FYVE, RhoGEF and PH domain containing 3							71	74	73					9																	95766401		2092	4247	6339	SO:0001583	missense	89846				actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding	g.chr9:95766401C>T	AK000004	CCDS43849.1, CCDS69619.1	9q22	2013-01-10	2004-08-24		ENSG00000127084	ENSG00000127084		"Zinc fingers, FYVE domain containing", "Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	16027	protein-coding gene	gene with protein product			"FGD1 family, member 3"			11214971	Standard	NM_001083536		Approved	FLJ00004, ZFYVE5	uc004asz.2	Q5JSP0	OTTHUMG00000021032	ENST00000375482.3:c.662C>T	9.37:g.95766401C>T	ENSP00000364631:p.Thr221Met		OREG0019318	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1315	FGD3_ENST00000416701.2_Missense_Mutation_p.T221M|FGD3_ENST00000337352.6_Missense_Mutation_p.T221M	p.T221M	NM_001083536.1	NP_001077005.1	Q5JSP0	FGD3_HUMAN			5	1158	+			221			DH.		F8W7P2|Q4VX84|Q7Z7D9|Q8N5G1	Missense_Mutation	SNP	ENST00000375482.3	37	c.662C>T	CCDS43849.1	.	.	.	.	.	.	.	.	.	.	C	15.73	2.918998	0.52546	.	.	ENSG00000127084	ENST00000375482;ENST00000416701;ENST00000337352	T;T;T	0.65178	-0.14;-0.14;-0.14	4.62	0.418	0.16429	Dbl homology (DH) domain (5);	0.611579	0.13686	N	0.369833	T	0.69975	0.3171	M	0.69823	2.125	0.09310	N	0.999999	D;D;D	0.76494	0.978;0.999;0.991	P;D;P	0.66084	0.84;0.941;0.9	T	0.58103	-0.7695	10	0.87932	D	0	.	3.2463	0.06798	0.145:0.5621:0.1324:0.1605	.	221;221;221	Q5JSP0-2;F8W7P2;Q5JSP0	.;.;FGD3_HUMAN	M	221	ENSP00000364631:T221M;ENSP00000413833:T221M;ENSP00000336914:T221M	ENSP00000336914:T221M	T	+	2	0	FGD3	94806222	0.001000	0.12720	0.001000	0.08648	0.862000	0.49288	-0.074000	0.11450	-0.027000	0.13873	0.655000	0.94253	ACG		0.587	FGD3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055493.1	NM_033086		24	83	0	0	0	1	0	24	83					T	95766401	C	T	95766401	3	4	305	1	0	0	0	0	1	0	0	0	5834	536	19	1	672	1	FGD3	9	95766401	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	688334	95766401	45447030	522	15039											
FAM22F	54754	broad.mit.edu	37	chr9	97088128	97088128	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggcggcctgtgtgctgggccGggagcgggtgtggcaaaggg	4	6	23	8	3	0	0	0	0	0	0	0	1	0	1	2	7	2	2	2	7	1	0			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr9:97088128G>A	ENST00000253262.4	-	2	125	c.105C>T	c.(103-105)ccC>ccT	p.P35P	NUTM2F_ENST00000341207.4_Silent_p.P35P|NUTM2F_ENST00000335456.7_Silent_p.P35P	NM_017561.1	NP_060031.1	A1L443	NTM2F_HUMAN	NUT family member 2F	35																	GTGCTGGGCCGGGAGCGGGTG	0.667																																						ENST00000335456.7																			0											c.(103-105)ccC>ccT		NUT family member 2F							30	33	32					9																	97088128		1984	4144	6128	SO:0001819	synonymous_variant	54754							g.chr9:97088128G>A		CCDS47994.1	9q22.32	2013-05-02	2013-03-14	2013-05-02	ENSG00000130950	ENSG00000130950			23450	protein-coding gene	gene with protein product			"family with sequence similarity 22, member F"	FAM22F			Standard	NM_017561		Approved	DKFZp434I1117		A1L443	OTTHUMG00000020260	ENST00000253262.4:c.105C>T	9.37:g.97088128G>A						NUTM2F_ENST00000341207.4_Silent_p.P35P|NUTM2F_ENST00000253262.4_Silent_p.P35P	p.P35P							2	125	-								B6ZDF0|Q5SR58|Q5SR59|Q9UFB1	Silent	SNP	ENST00000253262.4	37	c.105C>T	CCDS47994.1																																																																																				0.667	NUTM2F-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053173.2	NM_017561		19	41	0	0	0	1	0	19	41					A	97088128	G	A	97088128	2	1	305	1	0	0	0	0	0	0	0	1	5545	1103	39	2		2	FAM22F	9	97088128	Silent	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	1321727	97088128	44125303	523	15040											
KIAA1529	100499483	broad.mit.edu	37	chr9	100082480	100082480	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tccctcaactccctgaacaaGgagctaggtgagtgacgtct	10	9	10	12	1	2	3	1	3	1	0	4	4	4	4	2	2	3	1	2	2	4	1			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr9:100082480G>A	ENST00000357054.1	+	25	2636	c.1701G>A	c.(1699-1701)aaG>aaA	p.K567K	RP11-23J9.4_ENST00000534123.1_RNA|CCDC180_ENST00000411667.2_Silent_p.K425K|CCDC180_ENST00000375202.2_Silent_p.K428K|CCDC180_ENST00000529487.1_Silent_p.K428K|CCDC180_ENST00000395220.1_Silent_p.K527K|CCDC180_ENST00000460482.2_3'UTR			Q9P1Z9	CC180_HUMAN	coiled-coil domain containing 180	567						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)											CCCTGAACAAGGAGCTAGGTG	0.527																																						ENST00000375202.2																			0											c.(1282-1284)aaG>aaA		coiled-coil domain containing 180							208	191	197					9																	100082480		2203	4300	6503	SO:0001819	synonymous_variant	100499483							g.chr9:100082480G>A	AK123391	CCDS35077.1, CCDS35077.2	9q22.33	2013-03-08	2013-03-08	2013-03-08		ENSG00000197816			29303	protein-coding gene	gene with protein product	"Behcet's Disease Associated Gene 1"		"KIAA1529", "chromosome 9 open reading frame 174"	KIAA1529, C9orf174		10819331	Standard	NM_020893		Approved	DKFZp434I2420, BDAG1	uc004axg.2	Q9P1Z9	OTTHUMG00000167001	ENST00000357054.1:c.1701G>A	9.37:g.100082480G>A						CCDC180_ENST00000411667.2_Silent_p.K425K|CCDC180_ENST00000395220.1_Silent_p.K527K|RP11-23J9.4_ENST00000534123.1_RNA|CCDC180_ENST00000357054.1_Silent_p.K567K|CCDC180_ENST00000529487.1_Silent_p.K428K|CCDC180_ENST00000460482.2_3'UTR	p.K428K							25	2636	+								Q2KHR6|Q5VV25|Q68DP5|Q69YV9|Q6AHY0	Silent	SNP	ENST00000357054.1	37	c.1284G>A																																																																																					0.527	CCDC180-201	KNOWN	basic	protein_coding	protein_coding		NM_020893		53	135	0	0	0	1	0	53	135					A	100082480	G	A	100082480	2	1	305	1	0	0	0	0	0	0	0	1	8240	991	35	3		3	KIAA1529	9	100082480	Silent	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	2994352	100082480	41130951	524	15041											
KIAA1529	100499483	broad.mit.edu	37	chr9	100137845	100137845	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctgggccacctggcggccGtggaagcccgagatgctgtg	5	6	16	14	3	0	1	0	0	0	1	0	3	0	2	5	4	2	1	5	4	1	0			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr9:100137845G>A	ENST00000357054.1	+	48	5718	c.4783G>A	c.(4783-4785)Gtg>Atg	p.V1595M	RP11-23J9.4_ENST00000534123.1_RNA|CCDC180_ENST00000375202.2_Missense_Mutation_p.V1650M|CCDC180_ENST00000529487.1_Missense_Mutation_p.V1650M|CCDC180_ENST00000395220.1_3'UTR			Q9P1Z9	CC180_HUMAN	coiled-coil domain containing 180	1595						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)											CCTGGCGGCCGTGGAAGCCCG	0.597																																						ENST00000375202.2																			0											c.(4948-4950)Gtg>Atg		coiled-coil domain containing 180							102	87	92					9																	100137845		2203	4300	6503	SO:0001583	missense	100499483							g.chr9:100137845G>A	AK123391	CCDS35077.1, CCDS35077.2	9q22.33	2013-03-08	2013-03-08	2013-03-08		ENSG00000197816			29303	protein-coding gene	gene with protein product	"Behcet's Disease Associated Gene 1"		"KIAA1529", "chromosome 9 open reading frame 174"	KIAA1529, C9orf174		10819331	Standard	NM_020893		Approved	DKFZp434I2420, BDAG1	uc004axg.2	Q9P1Z9	OTTHUMG00000167001	ENST00000357054.1:c.4783G>A	9.37:g.100137845G>A	ENSP00000349562:p.Val1595Met					CCDC180_ENST00000395220.1_3'UTR|RP11-23J9.4_ENST00000534123.1_RNA|CCDC180_ENST00000357054.1_Missense_Mutation_p.V1595M|CCDC180_ENST00000529487.1_Missense_Mutation_p.V1650M	p.V1650M							50	6300	+								Q2KHR6|Q5VV25|Q68DP5|Q69YV9|Q6AHY0	Missense_Mutation	SNP	ENST00000357054.1	37	c.4948G>A		.	.	.	.	.	.	.	.	.	.	G	12.41	1.930103	0.34096	.	.	ENSG00000197816	ENST00000357054;ENST00000375202;ENST00000529487	T;T;T	0.12255	2.73;2.7;2.7	5.48	2.59	0.31030	.	0.458180	0.22163	N	0.063759	T	0.29716	0.0742	M	0.68952	2.095	0.58432	D	0.999997	D;D	0.89917	0.991;1.0	P;D	0.85130	0.637;0.997	T	0.01215	-1.1416	10	0.62326	D	0.03	-11.0034	6.2474	0.20827	0.1675:0.1519:0.6806:0.0	.	1789;1595	B7ZMG3;Q9P1Z9	.;CI174_HUMAN	M	1595;1650;1650	ENSP00000349562:V1595M;ENSP00000364348:V1650M;ENSP00000434727:V1650M	ENSP00000349562:V1595M	V	+	1	0	C9orf174	99177666	0.978000	0.34361	0.355000	0.25773	0.047000	0.14425	1.821000	0.39041	0.355000	0.24131	-0.175000	0.13238	GTG		0.597	CCDC180-201	KNOWN	basic	protein_coding	protein_coding		NM_020893		20	58	0	0	0	1	0	20	58					A	100137845	G	A	100137845	3	1	305	1	0	0	0	0	1	0	0	0	8240	1145	40	1	4929	1	KIAA1529	9	100137845	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	55365	100137845	41075586	525	15042											
ANKS6	203286	broad.mit.edu	37	chr9	101552591	101552591	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcccacggtccgggctgcGtggttggggtccgcgcccca	3	6	16	16	5	0	0	0	0	0	0	2	0	2	0	5	5	2	2	5	5	0	1	rs374878706		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr9:101552591G>A	ENST00000353234.4	-	2	704	c.657C>T	c.(655-657)caC>caT	p.H219H	ANKS6_ENST00000471846.1_5'UTR|ANKS6_ENST00000540940.1_Silent_p.H24H|ANKS6_ENST00000375019.2_Intron|ANKS6_ENST00000375018.1_Silent_p.H219H			Q68DC2	ANKS6_HUMAN	ankyrin repeat and sterile alpha motif domain containing 6	219						cilium (GO:0005929)|cytoplasm (GO:0005737)				endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	21		Acute lymphoblastic leukemia(62;0.0527)				TCCGGGCTGCGTGGTTGGGGT	0.692																																						ENST00000353234.4																			0				endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	21						c.(655-657)caC>caT		ankyrin repeat and sterile alpha motif domain containing 6		G		1,4079		0,1,2039	36	40	39		657	-0.2	0	9		39	0,8344		0,0,4172	no	coding-synonymous	ANKS6	NM_173551.3		0,1,6211	AA,AG,GG		0.0,0.0245,0.0080		219/872	101552591	1,12423	2040	4172	6212	SO:0001819	synonymous_variant	203286							g.chr9:101552591G>A	AK094247	CCDS43856.1	9q31.1	2013-09-10	2006-02-17	2006-02-17	ENSG00000165138	ENSG00000165138		"Sterile alpha motif (SAM) domain containing", "Ankyrin repeat domain containing"	26724	protein-coding gene	gene with protein product		615370	"sterile alpha motif domain containing 6", "ankyrin repeat domain 14"	SAMD6, ANKRD14		23793029	Standard	XM_005251793		Approved	FLJ36928, NPHP16	uc004ayu.3	Q68DC2	OTTHUMG00000020347	ENST00000353234.4:c.657C>T	9.37:g.101552591G>A						ANKS6_ENST00000375019.2_Intron|ANKS6_ENST00000375018.1_Silent_p.H219H|ANKS6_ENST00000540940.1_Silent_p.H24H|ANKS6_ENST00000471846.1_5'UTR	p.H219H			Q68DC2	ANKS6_HUMAN			2	704	-		Acute lymphoblastic leukemia(62;0.0527)	219					A0SE62|Q5VSL0|Q5VSL2|Q5VSL3|Q5VSL4|Q68DB8|Q6P2R2|Q8N9L6|Q96D62	Silent	SNP	ENST00000353234.4	37	c.657C>T	CCDS43856.1																																																																																				0.692	ANKS6-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000277053.1	NM_173551		4	87	0	0	0	1	0	4	87					A	101552591	G	A	101552591	2	1	305	1	0	0	0	0	0	0	0	1	692	1136	40	1		1	ANKS6	9	101552591	Silent	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	1414746	101552591	39660840	526	15043											
ABCA1	19	broad.mit.edu	37	chr9	107602600	107602600	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtttcagcatcttcctcagtGccattgcctccaaagagggc	8	11	9	13	0	3	1	2	0	1	1	5	1	5	1	4	1	3	2	4	1	1	3			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr9:107602600G>A	ENST00000374736.3	-	9	1408	c.1014C>T	c.(1012-1014)ggC>ggT	p.G338G		NM_005502.3	NP_005493.2	O95477	ABCA1_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 1	338					apolipoprotein A-I-mediated signaling pathway (GO:0038027)|cellular lipid metabolic process (GO:0044255)|cellular response to cholesterol (GO:0071397)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to retinoic acid (GO:0071300)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|endosomal transport (GO:0016197)|G-protein coupled receptor signaling pathway (GO:0007186)|high-density lipoprotein particle assembly (GO:0034380)|interleukin-1 beta secretion (GO:0050702)|intracellular cholesterol transport (GO:0032367)|lipoprotein metabolic process (GO:0042157)|lysosome organization (GO:0007040)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|peptide secretion (GO:0002790)|phagocytosis, engulfment (GO:0006911)|phospholipid efflux (GO:0033700)|phospholipid homeostasis (GO:0055091)|phospholipid translocation (GO:0045332)|platelet dense granule organization (GO:0060155)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cholesterol efflux (GO:0010875)|protein lipidation (GO:0006497)|regulation of Cdc42 protein signal transduction (GO:0032489)|response to drug (GO:0042493)|response to laminar fluid shear stress (GO:0034616)|response to low-density lipoprotein particle (GO:0055098)|response to nutrient (GO:0007584)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)	endocytic vesicle (GO:0030139)|external side of plasma membrane (GO:0009897)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)	anion transmembrane transporter activity (GO:0008509)|apolipoprotein A-I binding (GO:0034186)|apolipoprotein A-I receptor activity (GO:0034188)|apolipoprotein binding (GO:0034185)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase binding (GO:0051117)|cholesterol binding (GO:0015485)|cholesterol transporter activity (GO:0017127)|phospholipid binding (GO:0005543)|phospholipid transporter activity (GO:0005548)|receptor binding (GO:0005102)|small GTPase binding (GO:0031267)|syntaxin binding (GO:0019905)			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	115				OV - Ovarian serous cystadenocarcinoma(323;0.023)	Adenosine triphosphate(DB00171)|Glyburide(DB01016)|Probucol(DB01599)	CTTCCTCAGTGCCATTGCCTC	0.542																																						ENST00000374736.3																			0				NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	115						c.(1012-1014)ggC>ggT		ATP-binding cassette, sub-family A (ABC1), member 1	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)						128	99	109					9																	107602600		2203	4300	6503	SO:0001819	synonymous_variant	19				Cdc42 protein signal transduction|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport	integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle	anion transmembrane transporter activity|apolipoprotein A-I receptor activity|ATP binding|ATPase activity|cholesterol transporter activity|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding	g.chr9:107602600G>A	AJ012376	CCDS6762.1	9q31	2014-03-14			ENSG00000165029	ENSG00000165029		"ATP binding cassette transporters / subfamily A"	29	protein-coding gene	gene with protein product	"Tangier disease"	600046		ABC1, HDLDT1		8088782, 10431236, 10431237, 10431238	Standard	NM_005502		Approved	TGD	uc004bcl.3	O95477	OTTHUMG00000020417	ENST00000374736.3:c.1014C>T	9.37:g.107602600G>A							p.G338G	NM_005502.3	NP_005493.2	O95477	ABCA1_HUMAN		OV - Ovarian serous cystadenocarcinoma(323;0.023)	9	1408	-			338					Q5VX33|Q96S56|Q96T85|Q9NQV4|Q9UN06|Q9UN07|Q9UN08|Q9UN09	Silent	SNP	ENST00000374736.3	37	c.1014C>T	CCDS6762.1																																																																																				0.542	ABCA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053491.1	NM_005502		6	72	0	0	0	1	0	6	72					A	107602600	G	A	107602600	2	1	305	1	0	0	0	0	0	0	0	1	28	1306	46	3		3	ABCA1	9	107602600	Silent	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	6050009	107602600	33610831	527	15044											
FKTN	2218	broad.mit.edu	37	chr9	108382270	108382270	+	Frame_Shift_Del	DEL	T	T	-																															agatgatgtaaaacttgatgTttttttcttctatgaagaaa																								rs369386439		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr9:108382270delT	ENST00000223528.2	+	9	1224	c.1100delT	c.(1099-1101)gttfs	p.V367fs	FKTN_ENST00000540160.1_Intron|FKTN_ENST00000357998.5_Frame_Shift_Del_p.V367fs|FKTN_ENST00000448551.2_Frame_Shift_Del_p.V367fs|FKTN_ENST00000602661.1_Frame_Shift_Del_p.V367fs	NM_006731.2	NP_006722.2	O75072	FKTN_HUMAN	fukutin	367					muscle organ development (GO:0007517)|negative regulation of cell proliferation (GO:0008285)|negative regulation of JNK cascade (GO:0046329)|nervous system development (GO:0007399)|regulation of protein glycosylation (GO:0060049)	cis-Golgi network (GO:0005801)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	transferase activity (GO:0016740)			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	25						AAACTTGATGTTTTTTTCTTC	0.348																																						ENST00000223528.2																			0				breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	25						c.(1099-1101)gtfs		fukutin							67	69	68					9																	108382270		2203	4298	6501	SO:0001589	frameshift_variant	2218				muscle organ development|negative regulation of cell proliferation|negative regulation of JNK cascade|nervous system development|regulation of protein glycosylation	cis-Golgi network|endoplasmic reticulum|extracellular space|Golgi membrane|integral to membrane|nucleus	transferase activity	g.chr9:108382270delT		CCDS6766.1	9q31-q33	2014-09-17	2007-11-21	2007-11-21	ENSG00000106692	ENSG00000106692			3622	protein-coding gene	gene with protein product		607440	"Fukuyama type congenital muscular dystrophy (fukutin)"	FCMD		8275093, 17036286, 17044012	Standard	NM_001079802		Approved	LGMD2M	uc004bcs.3	O75072	OTTHUMG00000020425	ENST00000223528.2:c.1100delT	9.37:g.108382270delT	ENSP00000223528:p.Val367fs					FKTN_ENST00000357998.5_Frame_Shift_Del_p.V367fs|FKTN_ENST00000448551.2_Frame_Shift_Del_p.V367fs|FKTN_ENST00000602661.1_Frame_Shift_Del_p.V367fs|FKTN_ENST00000540160.1_Intron	p.V367fs	NM_006731.2	NP_006722.2	O75072	FKTN_HUMAN			9	1224	+			367					B4DUX9|J3KP13|Q3MIJ1|Q96TE1|Q9P295	Frame_Shift_Del	DEL	ENST00000223528.2	37	c.1100delT	CCDS6766.1																																																																																				0.348	FKTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053505.1	NM_006731		18	23						18	23	---	---	---	---	-	108382270	T	-	108382270	7	5	305	1	0	1	0	1	0	0	0	0	5919	1725	60	0	1130	0	FKTN	9	108382270	Frame_Shift_Del	DEL	T	TCGA-KK-A59V-01A-11D-A29Q-08	779670	108382270	32831161	528	15045											
ZNF462	58499	broad.mit.edu	37	chr9	109687842	109687842	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagccaccaccaccgccgcCgccaccaccaccatcacagc	10	1	6	24	3	1	0	1	0	0	0	1	0	1	0	10	0	2	1	10	0	0	0			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr9:109687842C>T	ENST00000277225.5	+	3	1938	c.1649C>T	c.(1648-1650)cCg>cTg	p.P550L	ZNF462_ENST00000441147.2_5'Flank|ZNF462_ENST00000457913.1_Missense_Mutation_p.P550L			Q96JM2	ZN462_HUMAN	zinc finger protein 462	550					chromatin organization (GO:0006325)|negative regulation of DNA binding (GO:0043392)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						ccaccgccgccgccaccacca	0.602																																						ENST00000277225.5																			0				NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						c.(1648-1650)cCg>cTg		zinc finger protein 462							56	53	54					9																	109687842		2201	4298	6499	SO:0001583	missense	58499				transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:109687842C>T	AB058706	CCDS35096.1	9q31.3	2008-02-05			ENSG00000148143	ENSG00000148143		"Zinc fingers, C2H2-type"	21684	protein-coding gene	gene with protein product							Standard	NM_021224		Approved	DKFZP762N2316, KIAA1803, Zfp462	uc004bcz.3	Q96JM2	OTTHUMG00000020438	ENST00000277225.5:c.1649C>T	9.37:g.109687842C>T	ENSP00000277225:p.Pro550Leu					ZNF462_ENST00000457913.1_Missense_Mutation_p.P550L	p.P550L			Q96JM2	ZN462_HUMAN			3	1938	+			550					Q5T0T4|Q8N408	Missense_Mutation	SNP	ENST00000277225.5	37	c.1649C>T	CCDS35096.1	.	.	.	.	.	.	.	.	.	.	C	11.81	1.748382	0.30955	.	.	ENSG00000148143	ENST00000277225;ENST00000457913	T;T	0.21031	2.03;2.03	5.14	4.19	0.49359	.	0.000000	0.50627	D	0.000101	T	0.10809	0.0264	N	0.24115	0.695	0.80722	D	1	P;P	0.43885	0.82;0.725	B;B	0.31547	0.132;0.062	T	0.11446	-1.0587	9	.	.	.	.	11.4722	0.50275	0.1792:0.8208:0.0:0.0	.	550;550	Q96JM2-3;Q96JM2	.;ZN462_HUMAN	L	550	ENSP00000277225:P550L;ENSP00000414570:P550L	.	P	+	2	0	ZNF462	108727663	0.001000	0.12720	0.400000	0.26346	0.042000	0.13812	0.013000	0.13310	2.550000	0.86006	0.561000	0.74099	CCG		0.602	ZNF462-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000053532.2	NM_021224		8	28	0	0	0	1	0	8	28					T	109687842	C	T	109687842	3	4	305	1	0	0	0	0	1	0	0	0	17923	652	23	2	1655	2	ZNF462	9	109687842	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	1305572	109687842	31525589	529	15046											
CTNNAL1	8727	broad.mit.edu	37	chr9	111741628	111741628	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gagttgacagttccaagatgCgttctctgtgctcatggctg	7	13	12	9	1	2	2	1	1	1	1	4	3	3	2	1	1	2	5	1	1	1	3			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr9:111741628C>T	ENST00000325551.4	-	7	1120	c.1034G>A	c.(1033-1035)cGc>cAc	p.R345H	CTNNAL1_ENST00000374595.4_Missense_Mutation_p.R345H|CTNNAL1_ENST00000488130.1_5'Flank|CTNNAL1_ENST00000325580.6_Missense_Mutation_p.R345H	NM_003798.2	NP_003789.1	Q9UBT7	CTNL1_HUMAN	catenin (cadherin-associated protein), alpha-like 1	345					cell adhesion (GO:0007155)|Rho protein signal transduction (GO:0007266)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	structural molecule activity (GO:0005198)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(4)|urinary_tract(2)	25				STAD - Stomach adenocarcinoma(157;0.0768)		TTCCAAGATGCGTTCTCTGTG	0.413																																						ENST00000374595.4																			0				cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(4)|urinary_tract(2)	25						c.(1033-1035)cGc>cAc		catenin (cadherin-associated protein), alpha-like 1							150	136	141					9																	111741628		2203	4300	6503	SO:0001583	missense	8727				cell adhesion|Rho protein signal transduction	actin cytoskeleton|cytosol|plasma membrane	cadherin binding|structural molecule activity	g.chr9:111741628C>T	AF030233	CCDS6775.1, CCDS69638.1	9q31.2	2008-07-21			ENSG00000119326	ENSG00000119326			2512	protein-coding gene	gene with protein product	"alpha-catulin", "alpha2-catulin"	604785				9806841	Standard	XM_005252291		Approved	CLLP, alpha-CATU	uc004bdo.1	Q9UBT7	OTTHUMG00000020466	ENST00000325551.4:c.1034G>A	9.37:g.111741628C>T	ENSP00000320434:p.Arg345His					CTNNAL1_ENST00000325580.6_Missense_Mutation_p.R345H|CTNNAL1_ENST00000325551.4_Missense_Mutation_p.R345H	p.R345H			Q9UBT7	CTNL1_HUMAN		STAD - Stomach adenocarcinoma(157;0.0768)	7	1113	-			345					B5BU47|O76084|Q53FQ2|Q5JTQ7|Q5JTQ8|Q9Y401	Missense_Mutation	SNP	ENST00000325551.4	37	c.1034G>A	CCDS6775.1	.	.	.	.	.	.	.	.	.	.	C	14.71	2.618144	0.46736	.	.	ENSG00000119326	ENST00000374595;ENST00000325551;ENST00000325580	T;T;T	0.38401	1.14;1.14;1.45	5.91	5.0	0.66597	.	0.542711	0.20915	N	0.083392	T	0.18257	0.0438	N	0.10874	0.06	0.27360	N	0.955999	B;B;B;B	0.28350	0.013;0.208;0.011;0.013	B;B;B;B	0.19148	0.007;0.024;0.005;0.007	T	0.06954	-1.0798	10	0.38643	T	0.18	-6.8114	9.4908	0.38958	0.0:0.8413:0.0:0.1587	.	345;345;345;345	B2RBI4;Q9UBT7-3;Q9UBT7-2;Q9UBT7	.;.;.;CTNL1_HUMAN	H	345	ENSP00000363723:R345H;ENSP00000320434:R345H;ENSP00000323351:R345H	ENSP00000320434:R345H	R	-	2	0	CTNNAL1	110781449	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.208000	0.32345	2.793000	0.96121	0.655000	0.94253	CGC		0.413	CTNNAL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053577.1	NM_003798		20	43	0	0	0	1	0	20	43					T	111741628	C	T	111741628	3	4	305	1	0	0	0	0	1	0	0	0	4015	768	27	1	1222	1	CTNNAL1	9	111741628	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	2053786	111741628	29471803	530	15047											
MUSK	4593	broad.mit.edu	37	chr9	113547964	113547964	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttgaatatgtgagagacatcGgagagggagcgtttggaagg	12	9	17	3	2	0	4	0	2	0	2	1	8	0	6	0	4	1	1	0	4	3	3	rs202126269		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr9:113547964G>A	ENST00000374448.4	+	13	1878	c.1744G>A	c.(1744-1746)Gga>Aga	p.G582R	MUSK_ENST00000416899.2_Missense_Mutation_p.G574R|MUSK_ENST00000374438.1_Missense_Mutation_p.G98R|MUSK_ENST00000189978.5_Missense_Mutation_p.G582R	NM_001166281.1|NM_005592.3	NP_001159753.1|NP_005583.1	O15146	MUSK_HUMAN	muscle, skeletal, receptor tyrosine kinase	582	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell differentiation (GO:0030154)|extracellular matrix organization (GO:0030198)|memory (GO:0007613)|multicellular organismal development (GO:0007275)|neuromuscular junction development (GO:0007528)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of protein geranylgeranylation (GO:2000541)|positive regulation of protein phosphorylation (GO:0001934)|protein autophosphorylation (GO:0046777)|regulation of synaptic growth at neuromuscular junction (GO:0008582)|regulation of transcription, DNA-templated (GO:0006355)|skeletal muscle acetylcholine-gated channel clustering (GO:0071340)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|neuromuscular junction (GO:0031594)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(23)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	49						GAGAGACATCGGAGAGGGAGC	0.428																																						ENST00000416899.2																			0				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(23)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	49						c.(1720-1722)Gga>Aga		muscle, skeletal, receptor tyrosine kinase							111	105	106					9																	113547964		1871	4112	5983	SO:0001583	missense	4593				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr9:113547964G>A	AF006464	CCDS48005.1, CCDS75874.1	9q31.3-q32	2013-01-29			ENSG00000030304	ENSG00000030304		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	7525	protein-coding gene	gene with protein product		601296				7546737	Standard	NM_005592		Approved		uc022blv.1	O15146	OTTHUMG00000020485	ENST00000374448.4:c.1744G>A	9.37:g.113547964G>A	ENSP00000363571:p.Gly582Arg					MUSK_ENST00000189978.5_Missense_Mutation_p.G582R|MUSK_ENST00000374438.1_Missense_Mutation_p.G98R|MUSK_ENST00000374448.4_Missense_Mutation_p.G582R	p.G574R			O15146	MUSK_HUMAN			11	1846	+			582					Q32MJ8|Q32MJ9|Q5VZW7|Q5VZW8	Missense_Mutation	SNP	ENST00000374448.4	37	c.1720G>A	CCDS48005.1	.	.	.	.	.	.	.	.	.	.	G	32	5.114088	0.94339	.	.	ENSG00000030304	ENST00000189978;ENST00000374448;ENST00000543335;ENST00000374447;ENST00000545907;ENST00000374441;ENST00000416899;ENST00000374438	T;D	0.95001	-0.36;-3.58	5.86	5.86	0.93980	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.98595	0.9530	H	0.98594	4.275	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99372	1.0920	10	0.87932	D	0	.	19.1684	0.93567	0.0:0.0:1.0:0.0	.	582	O15146	MUSK_HUMAN	R	588;582;582;496;496;98;580;98	ENSP00000363571:G582R;ENSP00000363561:G98R	ENSP00000189978:G588R	G	+	1	0	MUSK	112587785	1.000000	0.71417	0.943000	0.38184	0.940000	0.58332	9.476000	0.97823	2.777000	0.95525	0.655000	0.94253	GGA		0.428	MUSK-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding				9	104	0	0	0	1	0	9	104					A	113547964	G	A	113547964	3	1	305	1	0	0	0	0	1	0	0	0	9989	1117	39	2	1826	2	MUSK	9	113547964	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	1806336	113547964	27665467	531	15048											
ZFP37	7539	broad.mit.edu	37	chr9	115806153	115806154	+	Frame_Shift_Ins	INS	-	-	T																															tgacagcataatttgtcatgINSttttttgccagttttgttac																										TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr9:115806153_115806154insT	ENST00000374227.3	-	4	771_772	c.744_745insA	c.(742-747)aaacatfs	p.H249fs	ZFP37_ENST00000555206.1_Frame_Shift_Ins_p.H250fs|ZFP37_ENST00000553380.1_Frame_Shift_Ins_p.H264fs	NM_001282515.1|NM_001282518.1	NP_001269444.1|NP_001269447.1	Q9Y6Q3	ZFP37_HUMAN	ZFP37 zinc finger protein	249					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.K248K(1)		NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	38						AATTTGTCATGTTTTTTGCCAG	0.361																																						ENST00000374227.3																			1	Substitution - coding silent(1)	p.K248K(1)	large_intestine(1)	NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	38						c.(742-747)aaatgafs		ZFP37 zinc finger protein				0,4264		0,0,2132						0.8	0.8			232	1,8253		0,1,4126	no	frameshift	ZFP37	NM_003408.1		0,1,6258	A1A1,A1R,RR		0.0121,0.0,0.0080				1,12517				SO:0001589	frameshift_variant	7539					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr9:115806153_115806154insT	AF022158	CCDS6787.1, CCDS65109.1, CCDS65110.1	9q32	2013-01-08	2012-11-27		ENSG00000136866	ENSG00000136866		"Zinc fingers, C2H2-type", "-"	12863	protein-coding gene	gene with protein product		602951	"zinc finger protein homologous to Zfp37 in mouse", "zinc finger protein 37 homolog (mouse)"				Standard	NM_001282515		Approved	ZNF906	uc004bgm.1	Q9Y6Q3	OTTHUMG00000021019	ENST00000374227.3:c.745dupA	9.37:g.115806159_115806159dupT	ENSP00000363344:p.His249fs					ZFP37_ENST00000553380.1_Frame_Shift_Ins_p.*264fs|ZFP37_ENST00000555206.1_Frame_Shift_Ins_p.*250fs	p.*249fs			Q9Y6Q3	ZFP37_HUMAN			4	771_772	-			249					A0AVJ9|B4DVX4|G3V3L7|Q5T7Q4	Frame_Shift_Ins	INS	ENST00000374227.3	37	c.744_745insA	CCDS6787.1																																																																																				0.361	ZFP37-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000055439.1	NM_003408		21	161						21	161	---	---	---	---	T	115806154	-	T	115806153	7	5	305	1	0	1	1	0	0	0	0	0	17645	1377	48	0	1151	0	ZFP37	9	115806153	Frame_Shift_Ins	INS	-	TCGA-KK-A59V-01A-11D-A29Q-08	2258189	115806153	25407278	532	15049											
AKNA	80709	broad.mit.edu	37	chr9	117103926	117103926	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtccggggggtgggcgtggCgacgaccccgcctgcttgct	3	7	18	13	5	0	0	0	0	0	0	1	2	1	0	4	5	2	2	4	5	0	1	rs367770613		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr9:117103926C>T	ENST00000307564.4	-	21	4115	c.3954G>A	c.(3952-3954)tcG>tcA	p.S1318S	AKNA_ENST00000223791.3_Silent_p.S778S|AKNA_ENST00000374088.3_Silent_p.S1318S|AKNA_ENST00000374075.5_Silent_p.S1237S|AKNA_ENST00000492875.1_5'UTR|AKNA_ENST00000374079.4_Silent_p.S263S	NM_030767.4	NP_110394.3	Q7Z591	AKNA_HUMAN	AT-hook transcription factor	1318					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	membrane (GO:0016020)|nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(7)|liver(2)|lung(22)|ovary(4)|stomach(2)	51						GTGGGCGTGGCGACGACCCCG	0.627																																						ENST00000307564.4																			0				breast(3)|central_nervous_system(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(7)|liver(2)|lung(22)|ovary(4)|stomach(2)	51						c.(3952-3954)tcG>tcA		AT-hook transcription factor		C		0,4406		0,0,2203	63	64	64		3954	-10.3	0	9		64	3,8597	3.0+/-9.4	0,3,4297	no	coding-synonymous	AKNA	NM_030767.4		0,3,6500	TT,TC,CC		0.0349,0.0,0.0231		1318/1440	117103926	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	80709				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr9:117103926C>T	AK024431	CCDS6805.1	9q32	2008-02-05			ENSG00000106948	ENSG00000106948			24108	protein-coding gene	gene with protein product		605729				11268217, 11853319	Standard	NM_030767		Approved	KIAA1968	uc004bis.3	Q7Z591	OTTHUMG00000020538	ENST00000307564.4:c.3954G>A	9.37:g.117103926C>T						AKNA_ENST00000374075.5_Silent_p.S1237S|AKNA_ENST00000374088.3_Silent_p.S1318S|AKNA_ENST00000223791.3_Silent_p.S778S|AKNA_ENST00000492875.1_5'UTR|AKNA_ENST00000374079.4_Silent_p.S263S	p.S1318S	NM_030767.4	NP_110394.3	Q7Z591	AKNA_HUMAN			21	4115	-			1318					Q05BK5|Q5T535|Q5T536|Q5T537|Q64FX6|Q64FX7|Q64FX8|Q64FY2|Q6ZMK0|Q6ZNL2|Q6ZTX0|Q8TET1|Q8TF33|Q96RR9|Q9H7P7	Silent	SNP	ENST00000307564.4	37	c.3954G>A	CCDS6805.1	.	.	.	.	.	.	.	.	.	.	C	0.253	-1.004757	0.02112	0.0	3.49E-4	ENSG00000106948	ENST00000320310	.	.	.	5.13	-10.3	0.00346	.	.	.	.	.	T	0.30823	0.0777	.	.	.	0.24107	N	0.995857	.	.	.	.	.	.	T	0.46965	-0.9153	5	0.52906	T	0.07	-11.0105	6.8794	0.24164	0.0832:0.1059:0.1993:0.6116	.	.	.	.	H	329	.	ENSP00000314538:R329H	R	-	2	0	AKNA	116143747	0.000000	0.05858	0.000000	0.03702	0.014000	0.08584	-4.876000	0.00175	-2.592000	0.00456	-1.340000	0.01251	CGC		0.627	AKNA-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053767.2	NM_030767		32	106	0	0	0	1	0	32	106					T	117103926	C	T	117103926	2	4	305	1	0	0	0	0	0	0	0	1	463	755	27	1		1	AKNA	9	117103926	Silent	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	1297773	117103926	24109505	533	15050											
AKNA	80709	broad.mit.edu	37	chr9	117106079	117106079	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggggacagaacatggtattcGtggcctggggaaagaaacca	13	6	15	7	1	0	2	0	0	0	2	1	4	0	4	2	6	2	1	2	6	4	2			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr9:117106079G>A	ENST00000307564.4	-	19	3827	c.3666C>T	c.(3664-3666)caC>caT	p.H1222H	AKNA_ENST00000223791.3_Silent_p.H682H|AKNA_ENST00000374088.3_Silent_p.H1222H|AKNA_ENST00000374075.5_Silent_p.H1141H|AKNA_ENST00000492875.1_5'UTR|AKNA_ENST00000374079.4_Silent_p.H167H	NM_030767.4	NP_110394.3	Q7Z591	AKNA_HUMAN	AT-hook transcription factor	1222					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	membrane (GO:0016020)|nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(7)|liver(2)|lung(22)|ovary(4)|stomach(2)	51						CATGGTATTCGTGGCCTGGGG	0.517																																						ENST00000307564.4																			0				breast(3)|central_nervous_system(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(7)|liver(2)|lung(22)|ovary(4)|stomach(2)	51						c.(3664-3666)caC>caT		AT-hook transcription factor							73	73	73					9																	117106079		2203	4300	6503	SO:0001819	synonymous_variant	80709				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr9:117106079G>A	AK024431	CCDS6805.1	9q32	2008-02-05			ENSG00000106948	ENSG00000106948			24108	protein-coding gene	gene with protein product		605729				11268217, 11853319	Standard	NM_030767		Approved	KIAA1968	uc004bis.3	Q7Z591	OTTHUMG00000020538	ENST00000307564.4:c.3666C>T	9.37:g.117106079G>A						AKNA_ENST00000374075.5_Silent_p.H1141H|AKNA_ENST00000374088.3_Silent_p.H1222H|AKNA_ENST00000223791.3_Silent_p.H682H|AKNA_ENST00000492875.1_5'UTR|AKNA_ENST00000374079.4_Silent_p.H167H	p.H1222H	NM_030767.4	NP_110394.3	Q7Z591	AKNA_HUMAN			19	3827	-			1222					Q05BK5|Q5T535|Q5T536|Q5T537|Q64FX6|Q64FX7|Q64FX8|Q64FY2|Q6ZMK0|Q6ZNL2|Q6ZTX0|Q8TET1|Q8TF33|Q96RR9|Q9H7P7	Silent	SNP	ENST00000307564.4	37	c.3666C>T	CCDS6805.1																																																																																				0.517	AKNA-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053767.2	NM_030767		19	52	0	0	0	1	0	19	52					A	117106079	G	A	117106079	2	1	305	1	0	0	0	0	0	0	0	1	463	1136	40	1		1	AKNA	9	117106079	Silent	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	2153	117106079	24107352	534	15051											
TNFSF8	944	broad.mit.edu	37	chr9	117666341	117666341	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaggtaatccagcaagaatTgagagagattctggtatacg	14	9	12	6	1	1	3	0	1	1	3	2	5	2	3	1	2	2	4	1	2	5	5			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr9:117666341T>C	ENST00000223795.2	-	4	688	c.575A>G	c.(574-576)cAa>cGa	p.Q192R	TNFSF8_ENST00000474301.1_Intron	NM_001244.3	NP_001235.1	P32971	TNFL8_HUMAN	tumor necrosis factor (ligand) superfamily, member 8	192					apoptotic process (GO:0006915)|CD8-positive, alpha-beta T cell differentiation (GO:0043374)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|defense response to Gram-positive bacterium (GO:0050830)|immune response (GO:0006955)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)	receptor binding (GO:0005102)			endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|skin(3)|urinary_tract(1)	12						CAGCAAGAATTGAGAGAGATT	0.428																																						ENST00000223795.2																			0				endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|skin(3)|urinary_tract(1)	12						c.(574-576)cAa>cGa		tumor necrosis factor (ligand) superfamily, member 8							272	241	251					9																	117666341		2203	4300	6503	SO:0001583	missense	944				cell proliferation|cell-cell signaling|immune response|induction of apoptosis|signal transduction	extracellular space|integral to plasma membrane	cytokine activity|tumor necrosis factor receptor binding	g.chr9:117666341T>C	L09753	CCDS6810.1, CCDS75884.1	9q33	2008-02-05			ENSG00000106952	ENSG00000106952		"Tumor necrosis factor (ligand) superfamily", "CD molecules"	11938	protein-coding gene	gene with protein product		603875		CD30LG		8391931, 9349718	Standard	NM_001244		Approved	CD153	uc004bji.2	P32971	OTTHUMG00000021025	ENST00000223795.2:c.575A>G	9.37:g.117666341T>C	ENSP00000223795:p.Gln192Arg					TNFSF8_ENST00000474301.1_Intron	p.Q192R	NM_001244.3	NP_001235.1	P32971	TNFL8_HUMAN			4	688	-			192					O43404	Missense_Mutation	SNP	ENST00000223795.2	37	c.575A>G	CCDS6810.1	.	.	.	.	.	.	.	.	.	.	T	18.62	3.663985	0.67700	.	.	ENSG00000106952	ENST00000223795	D	0.95103	-3.61	5.78	5.78	0.91487	Tumour necrosis factor (3);Tumour necrosis factor-like (2);	0.000000	0.64402	D	0.000009	D	0.94679	0.8284	L	0.32530	0.975	0.35604	D	0.808098	D	0.76494	0.999	D	0.74674	0.984	D	0.96489	0.9362	10	0.87932	D	0	-12.2837	10.1842	0.42986	0.0:0.0:0.167:0.833	.	192	P32971	TNFL8_HUMAN	R	192	ENSP00000223795:Q192R	ENSP00000223795:Q192R	Q	-	2	0	TNFSF8	116706162	0.990000	0.36364	0.996000	0.52242	0.968000	0.65278	1.710000	0.37920	2.203000	0.70933	0.533000	0.62120	CAA		0.428	TNFSF8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055464.1			33	101	0	0	0	1	0	33	101					C	117666341	T	C	117666341	3	2	305	1	0	0	0	0	1	0	0	0	16308	1812	63	4	133	4	TNFSF8	9	117666341	Missense_Mutation	SNP	T	TCGA-KK-A59V-01A-11D-A29Q-08	560262	117666341	23547090	535	15052											
PAPPA	5069	broad.mit.edu	37	chr9	119158888	119158888	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agacctccggggatacagccAtggctaaggaaggacaagaa	15	4	13	9	1	0	2	0	0	0	2	1	5	1	5	3	5	2	1	3	5	5	2			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr9:119158888A>G	ENST00000328252.3	+	22	5246	c.4877A>G	c.(4876-4878)cAt>cGt	p.H1626R	PAPPA_ENST00000534838.1_Missense_Mutation_p.H664R|AL137024.1_ENST00000401363.1_RNA|PAPPA_ENST00000483254.1_3'UTR	NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A, pappalysin 1	1626					cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|female pregnancy (GO:0007565)|response to follicle-stimulating hormone (GO:0032354)|response to glucocorticoid (GO:0051384)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)	endopeptidase activity (GO:0004175)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						GGATACAGCCATGGCTAAGGA	0.537																																						ENST00000328252.3																			0				NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						c.(4876-4878)cAt>cGt		pregnancy-associated plasma protein A, pappalysin 1							111	107	108					9																	119158888		2203	4300	6503	SO:0001583	missense	5069				cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding	g.chr9:119158888A>G		CCDS6813.1	9q33.1	2014-03-05			ENSG00000182752	ENSG00000182752			8602	protein-coding gene	gene with protein product	"insulin-like growth factor-dependent IGF binding protein-4 protease", "aspecific BCL2 ARE-binding protein 2", "differentially placenta 1 expressed protein"	176385				7679961	Standard	NM_002581		Approved	PAPP-A, PAPPA1, IGFBP-4ase, PAPA, ASBABP2, DIPLA1	uc004bjn.3	Q13219	OTTHUMG00000021045	ENST00000328252.3:c.4877A>G	9.37:g.119158888A>G	ENSP00000330658:p.His1626Arg					PAPPA_ENST00000534838.1_Missense_Mutation_p.H664R|PAPPA_ENST00000483254.1_3'UTR	p.H1626R	NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN			22	5246	+			1626					B1AMF9|Q08371|Q68G52|Q9UDK7	Missense_Mutation	SNP	ENST00000328252.3	37	c.4877A>G	CCDS6813.1	.	.	.	.	.	.	.	.	.	.	A	6.226	0.409842	0.11812	.	.	ENSG00000182752	ENST00000328252;ENST00000534838	T;T	0.03580	4.66;3.88	5.71	5.71	0.89125	.	0.164767	0.53938	D	0.000049	T	0.02047	0.0064	N	0.08118	0	0.30008	N	0.815429	B;B	0.33583	0.418;0.294	B;B	0.25140	0.058;0.038	T	0.38373	-0.9664	10	0.34782	T	0.22	-15.5764	9.4409	0.38668	0.8011:0.0:0.0:0.1989	.	664;1626	F5GZ19;Q13219	.;PAPP1_HUMAN	R	1626;664	ENSP00000330658:H1626R;ENSP00000441461:H664R	ENSP00000330658:H1626R	H	+	2	0	PAPPA	118198709	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	2.390000	0.44416	2.189000	0.69895	0.402000	0.26972	CAT		0.537	PAPPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055546.1	NM_002581		4	116	0	0	0	1	0	4	116					G	119158888	A	G	119158888	3	3	305	1	0	0	0	0	1	0	0	0	11432	217	8	4	4963	4	PAPPA	9	119158888	Missense_Mutation	SNP	A	TCGA-KK-A59V-01A-11D-A29Q-08	1492547	119158888	22054543	536	15053											
ASTN2	23245	broad.mit.edu	37	chr9	119249669	119249669	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtcgggctccagacacttgaAgatgactgagtagatactga	12	9	12	8	1	0	7	0	4	0	3	2	7	1	7	1	1	1	2	1	1	3	3			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr9:119249669A>T	ENST00000313400.4	-	20	3566	c.3466T>A	c.(3466-3468)Ttc>Atc	p.F1156I	ASTN2_ENST00000288520.5_Missense_Mutation_p.F257I|ASTN2_ENST00000373996.3_Missense_Mutation_p.F1152I|ASTN2_ENST00000341734.4_Missense_Mutation_p.F208I|ASTN2_ENST00000361477.3_Missense_Mutation_p.F208I|ASTN2_ENST00000361209.2_Missense_Mutation_p.F1105I			O75129	ASTN2_HUMAN	astrotactin 2	1156	Fibronectin type-III.				negative regulation of protein localization to cell surface (GO:2000009)	cell pole (GO:0060187)|endosome (GO:0005768)|integral component of membrane (GO:0016021)				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						AGACACTTGAAGATGACTGAG	0.498																																						ENST00000313400.4																			0				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						c.(3466-3468)Ttc>Atc		astrotactin 2							125	112	116					9																	119249669		2203	4300	6503	SO:0001583	missense	23245					integral to membrane		g.chr9:119249669A>T	AF116574	CCDS6814.1, CCDS6815.1, CCDS48009.1, CCDS48009.2, CCDS55334.1	9q33	2008-02-05			ENSG00000148219	ENSG00000148219			17021	protein-coding gene	gene with protein product		612856				9734811	Standard	NM_014010		Approved	KIAA0634	uc004bjt.2	O75129	OTTHUMG00000021013	ENST00000313400.4:c.3466T>A	9.37:g.119249669A>T	ENSP00000314038:p.Phe1156Ile					ASTN2_ENST00000361477.3_Missense_Mutation_p.F208I|ASTN2_ENST00000341734.4_Missense_Mutation_p.F208I|ASTN2_ENST00000288520.5_Missense_Mutation_p.F257I|ASTN2_ENST00000361209.2_Missense_Mutation_p.F1105I|ASTN2_ENST00000373996.3_Missense_Mutation_p.F1152I	p.F1156I			O75129	ASTN2_HUMAN			20	3566	-			1156			Fibronectin type-III.		A2A2T7|A2A2T9|Q52LQ2|Q5JVX8|Q5JVX9|Q5JVY1|Q5VXG8|Q5VZX6|Q8N6P8|Q8WV47|Q96FL4|Q9UHW6	Missense_Mutation	SNP	ENST00000313400.4	37	c.3466T>A		.	.	.	.	.	.	.	.	.	.	A	10.95	1.494685	0.26774	.	.	ENSG00000148219	ENST00000313400;ENST00000373996;ENST00000288520;ENST00000341734;ENST00000373986;ENST00000361209;ENST00000361477	T;T;T;T;T;T;T	0.37752	1.18;1.18;1.18;1.18;1.18;1.18;1.18	5.49	5.49	0.81192	Fibronectin, type III (2);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.33818	0.0876	N	0.05124	-0.11	0.80722	D	1	D;D;B;D;B;D;D	0.63880	0.989;0.989;0.043;0.993;0.037;0.989;0.989	D;D;B;D;B;D;D	0.72625	0.978;0.978;0.019;0.977;0.039;0.978;0.978	T	0.13818	-1.0495	10	0.02654	T	1	-30.7006	15.8844	0.79232	1.0:0.0:0.0:0.0	.	208;208;1105;1156;1152;208;257	B7ZKP4;B7ZKP5;O75129-2;O75129;O75129-3;O75129-6;O75129-4	.;.;.;ASTN2_HUMAN;.;.;.	I	1156;1152;257;208;879;1105;208	ENSP00000314038:F1156I;ENSP00000363108:F1152I;ENSP00000288520:F257I;ENSP00000339925:F208I;ENSP00000363098:F879I;ENSP00000354504:F1105I;ENSP00000355116:F208I	ENSP00000288520:F257I	F	-	1	0	ASTN2	118289490	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.687000	0.91255	2.218000	0.71995	0.533000	0.62120	TTC		0.498	ASTN2-201	KNOWN	basic	protein_coding	protein_coding		NM_014010		33	83	0	0	0	1	0	33	83					T	119249669	A	T	119249669	3	4	305	1	0	0	0	0	1	0	0	0	1065	72	3	5	610	5	ASTN2	9	119249669	Missense_Mutation	SNP	A	TCGA-KK-A59V-01A-11D-A29Q-08	90781	119249669	21963762	537	15054											
TRAF1	7185	broad.mit.edu	37	chr9	123675925	123675925	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	actccaggccacagcccagcCgggccttccactgtttcatg	7	8	9	17	1	1	0	1	0	0	0	3	0	3	0	6	2	2	1	6	2	0	2			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr9:123675925C>T	ENST00000373887.3	-	5	2831	c.386G>A	c.(385-387)cGg>cAg	p.R129Q	TRAF1_ENST00000540010.1_Missense_Mutation_p.R129Q|TRAF1_ENST00000546084.1_Missense_Mutation_p.R7Q	NM_005658.4	NP_005649.1	Q13077	TRAF1_HUMAN	TNF receptor-associated factor 1	129					apoptotic process (GO:0006915)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein complex assembly (GO:0006461)|regulation of extrinsic apoptotic signaling pathway (GO:2001236)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	thioesterase binding (GO:0031996)|tumor necrosis factor receptor binding (GO:0005164)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|ovary(4)|pancreas(1)|skin(2)	22						ACAGCCCAGCCGGGCCTTCCA	0.627																																						ENST00000373887.3																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|ovary(4)|pancreas(1)|skin(2)	22						c.(385-387)cGg>cAg		TNF receptor-associated factor 1							39	42	41					9																	123675925		2198	4297	6495	SO:0001583	missense	7185				apoptosis|positive regulation of NF-kappaB transcription factor activity|protein complex assembly|regulation of apoptosis|signal transduction	cytoplasm	protein binding|zinc ion binding	g.chr9:123675925C>T	AK090468	CCDS6825.1, CCDS55335.1	9q33-q34	2008-02-05			ENSG00000056558	ENSG00000056558			12031	protein-coding gene	gene with protein product		601711				8069916	Standard	NM_001190945		Approved	EBI6	uc010mvl.2	Q13077	OTTHUMG00000020578	ENST00000373887.3:c.386G>A	9.37:g.123675925C>T	ENSP00000362994:p.Arg129Gln					TRAF1_ENST00000546084.1_Missense_Mutation_p.R7Q|TRAF1_ENST00000540010.1_Missense_Mutation_p.R129Q	p.R129Q	NM_005658.4	NP_005649.1	Q13077	TRAF1_HUMAN			5	2831	-			129					B4DJ77|Q658U1|Q8NF13	Missense_Mutation	SNP	ENST00000373887.3	37	c.386G>A	CCDS6825.1	.	.	.	.	.	.	.	.	.	.	C	7.766	0.706423	0.15239	.	.	ENSG00000056558	ENST00000373887;ENST00000540010;ENST00000546084	T;T;T	0.40476	1.65;1.65;1.03	5.41	-0.368	0.12537	.	0.660669	0.13707	N	0.368406	T	0.10594	0.0259	N	0.00707	-1.245	0.22975	N	0.998483	B	0.02656	0.0	B	0.01281	0.0	T	0.33727	-0.9857	10	0.10377	T	0.69	-4.0523	5.8919	0.18917	0.0:0.1735:0.4007:0.4257	.	129	Q13077	TRAF1_HUMAN	Q	129;129;7	ENSP00000362994:R129Q;ENSP00000443183:R129Q;ENSP00000438583:R7Q	ENSP00000362994:R129Q	R	-	2	0	TRAF1	122715746	0.940000	0.31905	0.761000	0.31378	0.429000	0.31625	0.012000	0.13287	-0.320000	0.08640	-0.262000	0.10625	CGG		0.627	TRAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053843.1	NM_005658		4	101	0	0	0	1	0	4	101					T	123675925	C	T	123675925	3	4	305	1	0	0	0	0	1	0	0	0	16434	652	23	2	880	2	TRAF1	9	123675925	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	4426256	123675925	17537506	538	15055											
DAB2IP	153090	broad.mit.edu	37	chr9	124535156	124535156	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgcagctcagctggtggcCgggtggccggcccgggcaac	4	5	18	14	3	1	0	1	0	0	0	1	0	1	0	3	6	4	5	3	6	1	0	rs377593194		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr9:124535156C>T	ENST00000408936.3	+	12	2531	c.2349C>T	c.(2347-2349)gcC>gcT	p.A783A	DAB2IP_ENST00000259371.2_Silent_p.A755A|DAB2IP_ENST00000309989.1_Silent_p.A659A			Q5VWQ8	DAB2P_HUMAN	DAB2 interacting protein	783	Necessary for interaction with AKT1.				activation of JUN kinase activity (GO:0007257)|activation of MAPKKK activity (GO:0000185)|angiogenesis (GO:0001525)|cell cycle (GO:0007049)|cell motility involved in cerebral cortex radial glia guided migration (GO:0021814)|cellular protein catabolic process (GO:0044257)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to interleukin-1 (GO:0071347)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to tumor necrosis factor (GO:0071356)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|endothelial cell apoptotic process (GO:0072577)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|I-kappaB phosphorylation (GO:0007252)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|layer formation in cerebral cortex (GO:0021819)|negative regulation of angiogenesis (GO:0016525)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catenin import into nucleus (GO:0035414)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin catabolic process (GO:2000599)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of G0 to G1 transition (GO:0070317)|negative regulation of GTPase activity (GO:0034260)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of phosphatidylinositol 3-kinase activity (GO:0043553)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|negative regulation of Ras GTPase activity (GO:0034261)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of toll-like receptor 4 signaling pathway (GO:0034144)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030948)|negative regulation of vascular endothelial growth factor signaling pathway (GO:1900747)|neuron projection morphogenesis (GO:0048812)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of dendrite development (GO:1900006)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of neuron migration (GO:2001224)|positive regulation of neuron projection development (GO:0010976)|positive regulation of proteasomal protein catabolic process (GO:1901800)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of synapse maturation (GO:0090129)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of ARF GTPase activity (GO:0032312)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of p38MAPK cascade (GO:1900744)|regulation of protein complex assembly (GO:0043254)|response to unfolded protein (GO:0006986)|transformed cell apoptotic process (GO:0006927)|tube formation (GO:0035148)|vascular endothelial growth factor receptor-2 signaling pathway (GO:0036324)	axon (GO:0030424)|cerebellar mossy fiber (GO:0044300)|climbing fiber (GO:0044301)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|extracellular vesicular exosome (GO:0070062)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|neuronal cell body (GO:0043025)|neuronal cell body membrane (GO:0032809)|parallel fiber (GO:1990032)|plasma membrane (GO:0005886)	14-3-3 protein binding (GO:0071889)|death receptor binding (GO:0005123)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|mitogen-activated protein kinase kinase binding (GO:0031434)|mitogen-activated protein kinase kinase kinase binding (GO:0031435)|phosphatidylinositol 3-kinase binding (GO:0043548)|phosphatidylinositol 3-kinase regulatory subunit binding (GO:0036312)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4-phosphate binding (GO:0070273)|protein complex binding (GO:0032403)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein phosphatase 2A binding (GO:0051721)|Ras GTPase activator activity (GO:0005099)|SH3 domain binding (GO:0017124)|signaling adaptor activity (GO:0035591)|vascular endothelial growth factor receptor 2 binding (GO:0043184)			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(8)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	27						AGCTGGTGGCCGGGTGGCCGG	0.756																																						ENST00000408936.3																			0				breast(3)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(8)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	27						c.(2347-2349)gcC>gcT		DAB2 interacting protein		C	,	1,4183		0,1,2091	7	9	9		2265,1977	-5.6	1	9		9	2,8182		0,2,4090	no	coding-synonymous,coding-synonymous	DAB2IP	NM_032552.2,NM_138709.1	,	0,3,6181	TT,TC,CC		0.0244,0.0239,0.0243	,	755/1133,659/1066	124535156	3,12365	2092	4092	6184	SO:0001819	synonymous_variant	153090				activation of JUN kinase activity|apoptosis in response to endoplasmic reticulum stress|cellular response to epidermal growth factor stimulus|cellular response to tumor necrosis factor|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of fibroblast proliferation|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of Ras GTPase activity|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|intrinsic to internal side of plasma membrane	14-3-3 protein binding|death receptor binding|mitogen-activated protein kinase kinase kinase binding|protein homodimerization activity|protein phosphatase 2A binding|Ras GTPase activator activity|signaling adaptor activity	g.chr9:124535156C>T	AF367051	CCDS6832.1, CCDS6833.2	9q33.1-q33.3	2008-07-21			ENSG00000136848	ENSG00000136848			17294	protein-coding gene	gene with protein product	"nGAP-like protein", "DOC-2/DAB2 interactive protein", "ASK-interacting protein", "ASK1-interacting protein 1"	609205				11944990, 11812785	Standard	XM_005251721		Approved	AF9Q34, DIP1/2, KIAA1743, AIP1	uc004bln.3	Q5VWQ8	OTTHUMG00000020595	ENST00000408936.3:c.2349C>T	9.37:g.124535156C>T						DAB2IP_ENST00000309989.1_Silent_p.A659A|DAB2IP_ENST00000259371.2_Silent_p.A755A	p.A783A			Q5VWQ8	DAB2P_HUMAN			12	2531	+			783					A6H8V2|A6NHI9|B0QZB1|G3XA90|Q8TDL2|Q96SE1|Q9C0C0	Silent	SNP	ENST00000408936.3	37	c.2349C>T																																																																																					0.756	DAB2IP-009	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000317857.1	NM_032552		9	20	0	0	0	1	0	9	20					T	124535156	C	T	124535156	2	4	305	1	0	0	0	0	0	0	0	1	4219	639	23	2		2	DAB2IP	9	124535156	Silent	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	859231	124535156	16678275	539	15056											
ZNF79	7633	broad.mit.edu	37	chr9	130198257	130198257	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcgcatggatgctggagggCgaagacctgcgaagtccctc	8	6	16	11	3	0	1	0	0	0	1	2	5	1	3	2	4	2	2	2	4	2	0	rs148235940		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr9:130198257C>T	ENST00000342483.5	+	4	709	c.303C>T	c.(301-303)ggC>ggT	p.G101G	ZNF79_ENST00000543471.1_Silent_p.G77G	NM_007135.2	NP_009066.2	Q15937	ZNF79_HUMAN	zinc finger protein 79	101	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|stomach(2)	28						TGCTGGAGGGCGAAGACCTGC	0.507													C|||	1	0.000199681	0	0	5008	,	,		20752	0.001		0	False		,,,				2504	0					ENST00000342483.5																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|stomach(2)	28						c.(301-303)ggC>ggT		zinc finger protein 79		C		0,4406		0,0,2203	112	103	106		303	1.3	0	9	dbSNP_134	106	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	ZNF79	NM_007135.2		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		101/499	130198257	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	7633				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:130198257C>T	X65232	CCDS6871.1, CCDS69664.1, CCDS75904.1	9q34	2013-01-08	2006-05-12		ENSG00000196152	ENSG00000196152		"Zinc fingers, C2H2-type"	13153	protein-coding gene	gene with protein product		194552	"zinc finger protein 79 (pT7)"			8478004	Standard	NM_007135		Approved	pT7	uc004bqw.4	Q15937	OTTHUMG00000020703	ENST00000342483.5:c.303C>T	9.37:g.130198257C>T						ZNF79_ENST00000543471.1_Silent_p.G77G	p.G101G	NM_007135.2	NP_009066.2	Q15937	ZNF79_HUMAN			4	709	+			101			KRAB.		Q5VVW1|Q96NV1	Silent	SNP	ENST00000342483.5	37	c.303C>T	CCDS6871.1																																																																																				0.507	ZNF79-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054188.1	NM_007135		7	111	0	0	0	1	0	7	111					T	130198257	C	T	130198257	2	4	305	1	0	0	0	0	0	0	0	1	18158	755	27	1		1	ZNF79	9	130198257	Silent	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	5663101	130198257	11015174	540	15057											
FAM129B	64855	broad.mit.edu	37	chr9	130293932	130293932	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccagcacctctcaccttgcGccagagcagctgggcctgcg	6	6	11	18	2	1	1	1	0	1	1	2	1	1	1	5	1	5	3	5	1	0	1	rs371821621		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr9:130293932G>A	ENST00000373312.3	-	2	394	c.181C>T	c.(181-183)Cgc>Tgc	p.R61C	FAM129B_ENST00000468379.1_5'UTR|FAM129B_ENST00000373314.3_Missense_Mutation_p.R48C	NM_022833.2	NP_073744.2	Q96TA1	NIBL1_HUMAN	family with sequence similarity 129, member B	61					negative regulation of apoptotic process (GO:0043066)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25						CTCACCTTGCGCCAGAGCAGC	0.592																																						ENST00000373312.3																			0				breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25						c.(181-183)Cgc>Tgc		family with sequence similarity 129, member B			CYS/ARG,CYS/ARG	0,4406		0,0,2203	59	62	61		142,181	4.8	1	9		61	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	FAM129B	NM_001035534.1,NM_022833.2	180,180	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging	48/734,61/747	130293932	1,13005	2203	4300	6503	SO:0001583	missense	64855						protein binding	g.chr9:130293932G>A	AF151783	CCDS35144.1, CCDS35145.1	9q34.13	2010-02-01	2006-11-23	2006-11-23	ENSG00000136830	ENSG00000136830			25282	protein-coding gene	gene with protein product		614045	"chromosome 9 open reading frame 88"	C9orf88		14702039, 19362540	Standard	XM_005252135		Approved	DKFZP434H0820, FLJ13518, FLJ22151, FLJ22298, bA356B19.6, MINERVA	uc004brh.3	Q96TA1	OTTHUMG00000020705	ENST00000373312.3:c.181C>T	9.37:g.130293932G>A	ENSP00000362409:p.Arg61Cys					FAM129B_ENST00000468379.1_5'UTR|FAM129B_ENST00000373314.3_Missense_Mutation_p.R48C	p.R61C	NM_022833.2	NP_073744.2	Q96TA1	NIBL1_HUMAN			2	394	-			61					Q4LE55|Q5VVW6|Q5VVW7|Q9BUS2|Q9NT35	Missense_Mutation	SNP	ENST00000373312.3	37	c.181C>T	CCDS35145.1	.	.	.	.	.	.	.	.	.	.	g	23.2	4.388380	0.82902	0.0	1.16E-4	ENSG00000136830	ENST00000373314;ENST00000373312	T;T	0.27557	1.69;1.66	4.82	4.82	0.62117	.	0.128387	0.51477	D	0.000090	T	0.46580	0.1400	L	0.55481	1.735	0.54753	D	0.999989	D;D	0.76494	0.998;0.999	P;P	0.58873	0.847;0.847	T	0.45818	-0.9235	10	0.72032	D	0.01	-20.7939	15.4274	0.75065	0.0:0.0:1.0:0.0	.	48;61	Q96TA1-2;Q96TA1	.;NIBL1_HUMAN	C	48;61	ENSP00000362411:R48C;ENSP00000362409:R61C	ENSP00000362409:R61C	R	-	1	0	FAM129B	129333753	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	3.338000	0.52128	2.503000	0.84419	0.556000	0.70494	CGC		0.592	FAM129B-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054196.1	NM_022833		36	72	0	0	0	1	0	36	72					A	130293932	G	A	130293932	3	1	305	1	0	0	0	0	1	0	0	0	5437	1087	38	1	2111	1	FAM129B	9	130293932	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	95675	130293932	10919499	541	15058											
LRRC8A	56262	broad.mit.edu	37	chr9	131671592	131671592	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tccagaacctagccatcacgGccaaccgggtgagtggcccg	9	5	12	15	3	1	2	1	1	0	1	2	2	2	2	6	3	3	0	6	3	3	1			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr9:131671592G>A	ENST00000259324.5	+	3	2672	c.2149G>A	c.(2149-2151)Gcc>Acc	p.A717T	LRRC8A_ENST00000372600.4_Missense_Mutation_p.A717T|LRRC8A_ENST00000372599.3_Missense_Mutation_p.A717T	NM_001127244.1	NP_001120716.1	Q8IWT6	LRC8A_HUMAN	leucine rich repeat containing 8 family, member A	717					anion transport (GO:0006820)|cell volume homeostasis (GO:0006884)|pre-B cell differentiation (GO:0002329)|response to osmotic stress (GO:0006970)	cell surface (GO:0009986)|ion channel complex (GO:0034702)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(3)	28						AGCCATCACGGCCAACCGGGT	0.672																																						ENST00000259324.5																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(3)	28						c.(2149-2151)Gcc>Acc		leucine rich repeat containing 8 family, member A							50	53	52					9																	131671592		2203	4300	6503	SO:0001583	missense	56262				pre-B cell differentiation	integral to membrane		g.chr9:131671592G>A	AB037858	CCDS35155.1	9q34.2	2014-09-17	2005-06-29	2005-06-29	ENSG00000136802	ENSG00000136802			19027	protein-coding gene	gene with protein product		608360	"leucine rich repeat containing 8"	LRRC8			Standard	NM_001127244		Approved	KIAA1437, FLJ10337	uc010myp.3	Q8IWT6	OTTHUMG00000020766	ENST00000259324.5:c.2149G>A	9.37:g.131671592G>A	ENSP00000259324:p.Ala717Thr					LRRC8A_ENST00000372600.4_Missense_Mutation_p.A717T|LRRC8A_ENST00000372599.3_Missense_Mutation_p.A717T	p.A717T	NM_001127244.1	NP_001120716.1	Q8IWT6	LRC8A_HUMAN			3	2672	+			717					Q6UXM2|Q8NCI0|Q9P2B1	Missense_Mutation	SNP	ENST00000259324.5	37	c.2149G>A	CCDS35155.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.980487	0.74474	.	.	ENSG00000136802	ENST00000372600;ENST00000372599;ENST00000259324	T;T;T	0.58506	0.33;0.33;0.33	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	T	0.49406	0.1555	N	0.19112	0.55	0.80722	D	1	P	0.41345	0.746	P	0.45167	0.472	T	0.36040	-0.9764	10	0.13853	T	0.58	.	18.7705	0.91890	0.0:0.0:1.0:0.0	.	717	Q8IWT6	LRC8A_HUMAN	T	717	ENSP00000361682:A717T;ENSP00000361680:A717T;ENSP00000259324:A717T	ENSP00000259324:A717T	A	+	1	0	LRRC8A	130711413	1.000000	0.71417	0.977000	0.42913	0.866000	0.49608	7.848000	0.86902	2.677000	0.91161	0.561000	0.74099	GCC		0.672	LRRC8A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054516.2	NM_019594		29	86	0	0	0	1	0	29	86					A	131671592	G	A	131671592	3	1	305	1	0	0	0	0	1	0	0	0	9021	1203	42	3	2151	3	LRRC8A	9	131671592	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	1377660	131671592	9541839	542	15059											
FAM73B	84895	broad.mit.edu	37	chr9	131832160	131832160	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcatctcccatttctactcCgtatcggagcatgtgagccc	7	13	7	14	2	3	1	1	1	2	0	6	2	4	2	3	1	3	2	3	1	2	4			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr9:131832160C>T	ENST00000358369.4	+	15	1717	c.1491C>T	c.(1489-1491)tcC>tcT	p.S497S	FAM73B_ENST00000406926.2_3'UTR|FAM73B_ENST00000277475.5_3'UTR	NM_032809.2	NP_116198.2	Q7L4E1	FA73B_HUMAN	family with sequence similarity 73, member B	497					bone development (GO:0060348)	integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(1)	13						ATTTCTACTCCGTATCGGAGC	0.592																																						ENST00000358369.4																			0				breast(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(1)	13						c.(1489-1491)tcC>tcT		family with sequence similarity 73, member B							175	159	165					9																	131832160		2203	4300	6503	SO:0001819	synonymous_variant	84895					integral to membrane		g.chr9:131832160C>T	AK074127	CCDS6917.1	9q34.13	2008-02-05	2005-08-11	2005-08-11	ENSG00000148343	ENSG00000148343			23621	protein-coding gene	gene with protein product			"chromosome 9 open reading frame 54"	C9orf54			Standard	NM_032809		Approved	FLJ14596, FLJ00199	uc004bxa.3	Q7L4E1	OTTHUMG00000020770	ENST00000358369.4:c.1491C>T	9.37:g.131832160C>T						FAM73B_ENST00000277475.5_3'UTR|FAM73B_ENST00000406926.2_3'UTR	p.S497S	NM_032809.2	NP_116198.2	Q7L4E1	FA73B_HUMAN			15	1717	+			497					Q8NBM3|Q8TEJ6|Q969E6	Silent	SNP	ENST00000358369.4	37	c.1491C>T	CCDS6917.1																																																																																				0.592	FAM73B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054542.7	NM_032809		73	156	0	0	0	1	0	73	156					T	131832160	C	T	131832160	2	4	305	1	0	0	0	0	0	0	0	1	5618	639	23	2		2	FAM73B	9	131832160	Silent	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	160568	131832160	9381271	543	15060											
ABL1	25	broad.mit.edu	37	chr9	133738400	133738400	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggaagaaatacagcctgaCggtggccgtgaagaccttga	12	7	14	8	2	0	5	0	3	0	2	0	6	0	6	3	3	2	0	3	3	4	2			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr9:133738400C>T	ENST00000318560.5	+	4	1181	c.800C>T	c.(799-801)aCg>aTg	p.T267M		NM_005157.4	NP_005148.2	P00519	ABL1_HUMAN	ABL proto-oncogene 1, non-receptor tyrosine kinase	267	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				actin cytoskeleton organization (GO:0030036)|autophagy (GO:0006914)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cellular protein modification process (GO:0006464)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to dopamine (GO:1903351)|cellular response to oxidative stress (GO:0034599)|DNA damage induced protein phosphorylation (GO:0006975)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|mismatch repair (GO:0006298)|mitochondrial depolarization (GO:0051882)|mitotic nuclear division (GO:0007067)|muscle cell differentiation (GO:0042692)|negative regulation of phospholipase C activity (GO:1900275)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|negative regulation of ubiquitin-protein transferase activity (GO:0051444)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of oxidoreductase activity (GO:0051353)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of autophagy (GO:0010506)|regulation of cell adhesion (GO:0030155)|regulation of cell motility (GO:2000145)|regulation of endocytosis (GO:0030100)|regulation of response to DNA damage stimulus (GO:2001020)|regulation of transcription, DNA-templated (GO:0006355)|response to oxidative stress (GO:0006979)|signal transduction in response to DNA damage (GO:0042770)	actin cytoskeleton (GO:0015629)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	actin monomer binding (GO:0003785)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|mitogen-activated protein kinase binding (GO:0051019)|nicotinate-nucleotide adenylyltransferase activity (GO:0004515)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|proline-rich region binding (GO:0070064)|protein C-terminus binding (GO:0008022)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)|SH3 domain binding (GO:0017124)|syntaxin binding (GO:0019905)			breast(3)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1149)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	1195		all_hematologic(13;0.0361)|Acute lymphoblastic leukemia(5;0.0543)|Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.4e-05)	Adenosine triphosphate(DB00171)|Bosutinib(DB06616)|Dasatinib(DB01254)|Imatinib(DB00619)|Nilotinib(DB04868)|Ponatinib(DB08901)|Regorafenib(DB08896)	TACAGCCTGACGGTGGCCGTG	0.622			"T, Mis"	"BCR, ETV6, NUP214"	"CML, ALL, T-ALL"																																	ENST00000318560.5				Dom	yes		9	9q34.1	25	"T, Mis"	v-abl Abelson murine leukemia viral oncogene homolog 1			L	"BCR, ETV6, NUP214"		"CML, ALL, T-ALL"		0				breast(3)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1149)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	1195						c.(799-801)aCg>aTg		c-abl oncogene 1, non-receptor tyrosine kinase	Adenosine triphosphate(DB00171)|Dasatinib(DB01254)|Imatinib(DB00619)						77	80	79					9																	133738400		2203	4300	6503	SO:0001583	missense	25				actin cytoskeleton organization|axon guidance|blood coagulation|cell adhesion|DNA damage induced protein phosphorylation|DNA damage response, signal transduction resulting in induction of apoptosis|mismatch repair|muscle cell differentiation|negative regulation of protein serine/threonine kinase activity|peptidyl-tyrosine phosphorylation|positive regulation of muscle cell differentiation|positive regulation of oxidoreductase activity|regulation of transcription involved in S phase of mitotic cell cycle	cytoskeleton|cytosol|nuclear membrane|nucleolus|perinuclear region of cytoplasm	ATP binding|DNA binding|magnesium ion binding|manganese ion binding|mitogen-activated protein kinase binding|non-membrane spanning protein tyrosine kinase activity|proline-rich region binding|protein C-terminus binding|SH3 domain binding	g.chr9:133738400C>T	M14752	CCDS35165.1, CCDS35166.1	9q34.1	2014-09-17	2014-06-26		ENSG00000097007	ENSG00000097007		"SH2 domain containing"	76	protein-coding gene	gene with protein product		189980	"v-abl Abelson murine leukemia viral oncogene homolog 1", "c-abl oncogene 1, receptor tyrosine kinase", "c-abl oncogene 1, non-receptor tyrosine kinase"	ABL		1857987, 12626632	Standard	NM_007313		Approved	JTK7, c-ABL, p150	uc004bzv.3	P00519	OTTHUMG00000020813	ENST00000318560.5:c.800C>T	9.37:g.133738400C>T	ENSP00000323315:p.Thr267Met						p.T267M	NM_005157.4	NP_005148.2	P00519	ABL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.4e-05)	4	1181	+		all_hematologic(13;0.0361)|Acute lymphoblastic leukemia(5;0.0543)|Myeloproliferative disorder(178;0.204)	267			Protein kinase.		A3KFJ3|Q13869|Q13870|Q16133|Q17R61|Q45F09	Missense_Mutation	SNP	ENST00000318560.5	37	c.800C>T	CCDS35166.1	.	.	.	.	.	.	.	.	.	.	C	34	5.392884	0.96009	.	.	ENSG00000097007	ENST00000444970;ENST00000372348;ENST00000318560	D;D	0.83250	-1.7;-1.7	6.03	6.03	0.97812	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.87370	0.6160	L	0.28649	0.875	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79108	0.992;0.992	D	0.88001	0.2756	10	0.87932	D	0	.	19.6124	0.95613	0.0:1.0:0.0:0.0	.	267;304	P00519;Q59FK4	ABL1_HUMAN;.	M	82;286;267	ENSP00000361423:T286M;ENSP00000323315:T267M	ENSP00000323315:T267M	T	+	2	0	ABL1	132728221	1.000000	0.71417	0.972000	0.41901	0.994000	0.84299	7.775000	0.85489	2.880000	0.98712	0.650000	0.86243	ACG		0.622	ABL1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054684.1	NM_007313		11	29	0	0	0	1	0	11	29					T	133738400	C	T	133738400	3	4	305	1	0	0	0	0	1	0	0	0	92	536	19	1	954	1	ABL1	9	133738400	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	1906240	133738400	7475031	544	15061											
ABL1	25	broad.mit.edu	37	chr9	133759623	133759623	+	Frame_Shift_Del	DEL	C	C	-																															caacggggcactggctttcaCccccttggacacagctgacc																										TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr9:133759623delC	ENST00000318560.5	+	11	2327	c.1946delC	c.(1945-1947)accfs	p.T649fs		NM_005157.4	NP_005148.2	P00519	ABL1_HUMAN	ABL proto-oncogene 1, non-receptor tyrosine kinase	649					actin cytoskeleton organization (GO:0030036)|autophagy (GO:0006914)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cellular protein modification process (GO:0006464)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to dopamine (GO:1903351)|cellular response to oxidative stress (GO:0034599)|DNA damage induced protein phosphorylation (GO:0006975)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|mismatch repair (GO:0006298)|mitochondrial depolarization (GO:0051882)|mitotic nuclear division (GO:0007067)|muscle cell differentiation (GO:0042692)|negative regulation of phospholipase C activity (GO:1900275)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|negative regulation of ubiquitin-protein transferase activity (GO:0051444)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of oxidoreductase activity (GO:0051353)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of autophagy (GO:0010506)|regulation of cell adhesion (GO:0030155)|regulation of cell motility (GO:2000145)|regulation of endocytosis (GO:0030100)|regulation of response to DNA damage stimulus (GO:2001020)|regulation of transcription, DNA-templated (GO:0006355)|response to oxidative stress (GO:0006979)|signal transduction in response to DNA damage (GO:0042770)	actin cytoskeleton (GO:0015629)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	actin monomer binding (GO:0003785)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|mitogen-activated protein kinase binding (GO:0051019)|nicotinate-nucleotide adenylyltransferase activity (GO:0004515)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|proline-rich region binding (GO:0070064)|protein C-terminus binding (GO:0008022)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)|SH3 domain binding (GO:0017124)|syntaxin binding (GO:0019905)			breast(3)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1149)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	1195		all_hematologic(13;0.0361)|Acute lymphoblastic leukemia(5;0.0543)|Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.4e-05)	Adenosine triphosphate(DB00171)|Bosutinib(DB06616)|Dasatinib(DB01254)|Imatinib(DB00619)|Nilotinib(DB04868)|Ponatinib(DB08901)|Regorafenib(DB08896)	CTGGCTTTCACCCCCTTGGAC	0.682			"T, Mis"	"BCR, ETV6, NUP214"	"CML, ALL, T-ALL"																																	ENST00000318560.5				Dom	yes		9	9q34.1	25	"T, Mis"	v-abl Abelson murine leukemia viral oncogene homolog 1			L	"BCR, ETV6, NUP214"		"CML, ALL, T-ALL"		0				breast(3)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1149)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	1195						c.(1945-1947)acfs		c-abl oncogene 1, non-receptor tyrosine kinase	Adenosine triphosphate(DB00171)|Dasatinib(DB01254)|Imatinib(DB00619)						31	35	34					9																	133759623		2203	4299	6502	SO:0001589	frameshift_variant	25				actin cytoskeleton organization|axon guidance|blood coagulation|cell adhesion|DNA damage induced protein phosphorylation|DNA damage response, signal transduction resulting in induction of apoptosis|mismatch repair|muscle cell differentiation|negative regulation of protein serine/threonine kinase activity|peptidyl-tyrosine phosphorylation|positive regulation of muscle cell differentiation|positive regulation of oxidoreductase activity|regulation of transcription involved in S phase of mitotic cell cycle	cytoskeleton|cytosol|nuclear membrane|nucleolus|perinuclear region of cytoplasm	ATP binding|DNA binding|magnesium ion binding|manganese ion binding|mitogen-activated protein kinase binding|non-membrane spanning protein tyrosine kinase activity|proline-rich region binding|protein C-terminus binding|SH3 domain binding	g.chr9:133759623delC	M14752	CCDS35165.1, CCDS35166.1	9q34.1	2014-09-17	2014-06-26		ENSG00000097007	ENSG00000097007		"SH2 domain containing"	76	protein-coding gene	gene with protein product		189980	"v-abl Abelson murine leukemia viral oncogene homolog 1", "c-abl oncogene 1, receptor tyrosine kinase", "c-abl oncogene 1, non-receptor tyrosine kinase"	ABL		1857987, 12626632	Standard	NM_007313		Approved	JTK7, c-ABL, p150	uc004bzv.3	P00519	OTTHUMG00000020813	ENST00000318560.5:c.1946delC	9.37:g.133759623delC	ENSP00000323315:p.Thr649fs						p.T649fs	NM_005157.4	NP_005148.2	P00519	ABL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.4e-05)	11	2327	+		all_hematologic(13;0.0361)|Acute lymphoblastic leukemia(5;0.0543)|Myeloproliferative disorder(178;0.204)	649					A3KFJ3|Q13869|Q13870|Q16133|Q17R61|Q45F09	Frame_Shift_Del	DEL	ENST00000318560.5	37	c.1946delC	CCDS35166.1																																																																																				0.682	ABL1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054684.1	NM_007313		31	80						31	80	---	---	---	---	-	133759623	C	-	133759623	7	5	305	1	0	1	0	1	0	0	0	0	92	507	18	0	2128	0	ABL1	9	133759623	Frame_Shift_Del	DEL	C	TCGA-KK-A59V-01A-11D-A29Q-08	21223	133759623	7453808	545	15062											
BAT2L1	84726	broad.mit.edu	37	chr9	134346320	134346320	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctacatggacccacgtatcaCgcccactcggaccccggtgg	8	6	10	17	4	1	0	1	0	0	0	2	2	1	2	4	4	1	1	4	4	2	2			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr9:134346320C>T	ENST00000357304.4	+	13	2112	c.2057C>T	c.(2056-2058)aCg>aTg	p.T686M	PRRC2B_ENST00000372249.1_5'UTR|PRRC2B_ENST00000458550.1_Missense_Mutation_p.T686M|PRRC2B_ENST00000405995.1_Missense_Mutation_p.T686M	NM_013318.3	NP_037450.2	Q5JSZ5	PRC2B_HUMAN	proline-rich coiled-coil 2B	686							poly(A) RNA binding (GO:0044822)			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(20)|ovary(2)	44						CCACGTATCACGCCCACTCGG	0.607																																						ENST00000357304.4																			0				cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(20)|ovary(2)	44						c.(2056-2058)aCg>aTg		proline-rich coiled-coil 2B							55	56	56					9																	134346320		2093	4209	6302	SO:0001583	missense	84726						protein binding	g.chr9:134346320C>T	AB011087	CCDS48044.1	9q34.13	2010-12-09	2010-12-09	2010-12-09	ENSG00000130723	ENSG00000130723			28121	protein-coding gene	gene with protein product			"KIAA0515", "HLA-B associated transcript 2-like", "HLA-B associated transcript 2-like 1"	KIAA0515, BAT2L, BAT2L1		9628581	Standard	NM_013318		Approved	MGC10526, LQFBS-1	uc004can.4	Q5JSZ5	OTTHUMG00000020827	ENST00000357304.4:c.2057C>T	9.37:g.134346320C>T	ENSP00000349856:p.Thr686Met					PRRC2B_ENST00000458550.1_Missense_Mutation_p.T686M|PRRC2B_ENST00000372249.1_5'UTR|PRRC2B_ENST00000405995.1_Missense_Mutation_p.T686M	p.T686M	NM_013318.3	NP_037450.2	Q5JSZ5	PRC2B_HUMAN			13	2112	+			686					O60270|Q5JSZ7|Q66VZ2|Q68CR0|Q96EI9|Q9H683	Missense_Mutation	SNP	ENST00000357304.4	37	c.2057C>T	CCDS48044.1	.	.	.	.	.	.	.	.	.	.	C	11.73	1.725810	0.30593	.	.	ENSG00000130723	ENST00000405995;ENST00000357304;ENST00000458550	T;T;T	0.10382	2.88;2.88;2.88	5.84	5.84	0.93424	.	0.579427	0.13892	U	0.355579	T	0.10723	0.0262	N	0.10782	0.045	0.80722	D	1	D	0.67145	0.996	P	0.46885	0.53	T	0.40869	-0.9540	10	0.37606	T	0.19	0.0029	19.1261	0.93384	0.0:1.0:0.0:0.0	.	686	Q5JSZ5	PRC2B_HUMAN	M	686	ENSP00000384606:T686M;ENSP00000349856:T686M;ENSP00000398853:T686M	ENSP00000349856:T686M	T	+	2	0	PRRC2B	133336141	0.582000	0.26749	0.019000	0.16419	0.036000	0.12997	5.745000	0.68672	2.779000	0.95612	0.655000	0.94253	ACG		0.607	PRRC2B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				5	43	0	0	0	1	0	5	43					T	134346320	C	T	134346320	3	4	305	1	0	0	0	0	1	0	0	0	1320	536	19	1	2107	1	BAT2L1	9	134346320	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	586697	134346320	6867111	546	15063											
NTNG2	84628	broad.mit.edu	37	chr9	135073796	135073796	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttcgaggtgcgggaccgcttCgccatctttgccggccccga	4	9	13	15	6	1	0	0	0	1	0	3	3	1	1	5	3	2	1	5	3	0	3	rs562591810	byFrequency	TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr9:135073796C>T	ENST00000393229.3	+	3	1433	c.657C>T	c.(655-657)ttC>ttT	p.F219F	NTNG2_ENST00000372179.3_Silent_p.F219F|NTNG2_ENST00000393228.4_Silent_p.F219F|NTNG2_ENST00000360670.3_Silent_p.F219F	NM_032536.2	NP_115925.2	Q96CW9	NTNG2_HUMAN	netrin G2	219	Laminin N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00466}.				axonogenesis (GO:0007409)	anchored component of plasma membrane (GO:0046658)|axon (GO:0030424)				central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	29				OV - Ovarian serous cystadenocarcinoma(145;1.23e-05)|Epithelial(140;0.000173)		GGGACCGCTTCGCCATCTTTG	0.657													C|||	2	0.000399361	0	0.0029	5008	,	,		18057	0		0	False		,,,				2504	0					ENST00000393229.3																			0				central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	29						c.(655-657)ttC>ttT		netrin G2							50	45	47					9																	135073796		2203	4299	6502	SO:0001819	synonymous_variant	84628				axonogenesis	anchored to plasma membrane		g.chr9:135073796C>T	AB058760	CCDS6946.1	9q34	2013-03-01	2003-12-02	2003-12-03	ENSG00000196358	ENSG00000196358		"Netrins"	14288	protein-coding gene	gene with protein product	"Netrin-G2"		"netrin G1"	NTNG1			Standard	NM_032536		Approved	KIAA1857, Lmnt2	uc004cbh.2	Q96CW9	OTTHUMG00000020835	ENST00000393229.3:c.657C>T	9.37:g.135073796C>T						NTNG2_ENST00000372179.3_Silent_p.F219F|NTNG2_ENST00000360670.3_Silent_p.F219F|NTNG2_ENST00000393228.4_Silent_p.F219F	p.F219F	NM_032536.2	NP_115925.2	Q96CW9	NTNG2_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.23e-05)|Epithelial(140;0.000173)	3	1433	+			219			Laminin N-terminal.		Q5JUJ2|Q6UXY0|Q96JH0	Silent	SNP	ENST00000393229.3	37	c.657C>T	CCDS6946.1																																																																																				0.657	NTNG2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054779.1	NM_032536		25	69	0	0	0	1	0	25	69					T	135073796	C	T	135073796	2	4	305	1	0	0	0	0	0	0	0	1	10705	883	31	2		2	NTNG2	9	135073796	Silent	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	727476	135073796	6139635	547	15064											
TTF1	7270	broad.mit.edu	37	chr9	135275597	135275597	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcagataagtatcttatttcGgaatcttcagctgtttccac	10	15	7	9	1	3	1	1	0	2	1	5	2	4	2	1	1	1	4	1	1	4	6	rs144643349	byFrequency	TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr9:135275597G>A	ENST00000334270.2	-	3	1455	c.1416C>T	c.(1414-1416)tcC>tcT	p.S472S		NM_001205296.1|NM_007344.3	NP_001192225.1|NP_031370.2	Q15361	TTF1_HUMAN	transcription termination factor, RNA polymerase I	472					chromatin remodeling (GO:0006338)|DNA-templated transcription, termination (GO:0006353)|gene expression (GO:0010467)|negative regulation of DNA replication (GO:0008156)|regulation of transcription, DNA-templated (GO:0006355)|termination of RNA polymerase I transcription (GO:0006363)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;4.25e-06)|Epithelial(140;9.09e-05)		ATCTTATTTCGGAATCTTCAG	0.413													G|||	3	0.000599042	0	0.0029	5008	,	,		19594	0		0.001	False		,,,				2504	0					ENST00000334270.2																			0				endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						c.(1414-1416)tcC>tcT		transcription termination factor, RNA polymerase I							116	112	113					9																	135275597		2203	4300	6503	SO:0001819	synonymous_variant	7270				negative regulation of DNA replication|regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription	nucleolus|nucleoplasm	DNA binding	g.chr9:135275597G>A	BC050734	CCDS6948.1, CCDS75925.1	9q34.3	2008-02-05			ENSG00000125482	ENSG00000125482			12397	protein-coding gene	gene with protein product		600777				7597036	Standard	NM_007344		Approved		uc004cbl.3	Q15361	OTTHUMG00000020836	ENST00000334270.2:c.1416C>T	9.37:g.135275597G>A							p.S472S	NM_001205296.1|NM_007344.3	NP_001192225.1|NP_031370.2	Q15361	TTF1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;4.25e-06)|Epithelial(140;9.09e-05)	3	1455	-		Myeloproliferative disorder(178;0.204)	472					A1L160|Q4VXF3|Q58EY2|Q6P5T5	Silent	SNP	ENST00000334270.2	37	c.1416C>T	CCDS6948.1																																																																																				0.413	TTF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054784.2	NM_007344		17	58	0	0	0	1	0	17	58					A	135275597	G	A	135275597	2	1	305	1	0	0	0	0	0	0	0	1	16715	1103	39	2		2	TTF1	9	135275597	Silent	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	201801	135275597	5937834	548	15065											
OBP2B	29989	broad.mit.edu	37	chr9	136083533	136083533	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctcacaggcgctgtatttGccaggctcctccgtcttccg	4	11	11	15	3	2	0	1	0	1	0	5	0	5	0	4	3	1	4	4	3	1	3	rs138653366	byFrequency	TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr9:136083533G>A	ENST00000372034.3	-	3	305	c.264C>T	c.(262-264)ggC>ggT	p.G88G	OBP2B_ENST00000372032.2_Nonsense_Mutation_p.Q44*|OBP2B_ENST00000461961.1_5'UTR	NM_014581.2	NP_055396.1	Q9NPH6	OBP2B_HUMAN	odorant binding protein 2B	88					chemosensory behavior (GO:0007635)|sensory perception of smell (GO:0007608)|transport (GO:0006810)	extracellular region (GO:0005576)	odorant binding (GO:0005549)			central_nervous_system(2)|large_intestine(1)|lung(3)|skin(1)	7				OV - Ovarian serous cystadenocarcinoma(145;3.41e-06)|Epithelial(140;1.88e-05)		CGCTGTATTTGCCAGGCTCCT	0.647													G|||	5	0.000998403	0.0038	0	5008	,	,		5942	0		0	False		,,,				2504	0					ENST00000372032.2																			0				central_nervous_system(2)|large_intestine(1)|lung(3)|skin(1)	7						c.(130-132)Caa>Taa		odorant binding protein 2B		G		14,4392	21.2+/-45.6	0,14,2189	64	61	62		264	-0.2	0.2	9	dbSNP_134	62	0,8600		0,0,4300	no	coding-synonymous	OBP2B	NM_014581.2		0,14,6489	AA,AG,GG		0.0,0.3177,0.1076		88/171	136083533	14,12992	2203	4300	6503	SO:0001819	synonymous_variant	29989				chemosensory behavior|sensory perception of smell	extracellular region	odorant binding|transporter activity	g.chr9:136083533G>A	AJ251026	CCDS6961.1	9q34	2014-01-22			ENSG00000171102	ENSG00000171102		"Lipocalins"	23381	protein-coding gene	gene with protein product		604606					Standard	NM_001288987		Approved	hOBPIIb, LCN14	uc004ccz.3	Q9NPH6	OTTHUMG00000020860	ENST00000372034.3:c.264C>T	9.37:g.136083533G>A						OBP2B_ENST00000461961.1_5'UTR|OBP2B_ENST00000372034.3_Silent_p.G88G	p.Q44*			Q9NPH6	OBP2B_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;3.41e-06)|Epithelial(140;1.88e-05)	3	173	-			0					Q5VSP6|Q9NY51|Q9NY52	Nonsense_Mutation	SNP	ENST00000372034.3	37	c.130C>T	CCDS6961.1	.	.	.	.	.	.	.	.	.	.	G	12.28	1.891385	0.33442	0.003177	0.0	ENSG00000171102	ENST00000372032	.	.	.	1.91	-0.218	0.13142	.	.	.	.	.	.	.	.	.	.	.	0.45733	A	0.998637	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-31.9623	2.2629	0.04071	0.1955:0.0:0.5042:0.3003	.	.	.	.	X	44	.	ENSP00000361102:Q44X	Q	-	1	0	OBP2B	135073354	0.002000	0.14202	0.237000	0.24090	0.027000	0.11550	0.041000	0.13927	-0.069000	0.12931	0.585000	0.79938	CAA		0.647	OBP2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054851.1	NM_014581		11	30	0	0	0	1	0	11	30					A	136083533	G	A	136083533	2	1	305	1	0	0	0	0	0	0	0	1	10811	1306	46	3		3	OBP2B	9	136083533	Silent	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	807936	136083533	5129898	549	15066											
SURF4	6836	broad.mit.edu	37	chr9	136230378	136230380	+	In_Frame_Del	DEL	CTT	CTT	-																															atctgtgactgttaccactcCttcttcttctcatccatgga																										TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr9:136230378_136230380delCTT	ENST00000371989.3	-	6	928_930	c.799_801delAAG	c.(799-801)aagdel	p.K267del	SURF4_ENST00000545297.1_3'UTR|SURF4_ENST00000467910.1_5'Flank|SURF4_ENST00000485435.2_Intron	NM_001280788.1|NM_001280790.1|NM_001280791.1|NM_033161.2	NP_001267717.1|NP_001267719.1|NP_001267720.1|NP_149351.1	O15260	SURF4_HUMAN	surfeit 4	267					Golgi organization (GO:0007030)|positive regulation of organelle organization (GO:0010638)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				kidney(1)|large_intestine(2)|lung(5)	8				OV - Ovarian serous cystadenocarcinoma(145;5.32e-07)|Epithelial(140;4.56e-06)|all cancers(34;4.25e-05)		GTTACCACTCCTTCTTCTTCTCA	0.547																																						ENST00000371989.3																			0				kidney(1)|large_intestine(2)|lung(5)	8						c.(799-801)del		surfeit 4				1,4263		0,1,2131						5.4	1			83	1,8253		0,1,4126	no	coding	SURF4	NM_033161.2		0,2,6257	A1A1,A1R,RR		0.0121,0.0235,0.016				2,12516				SO:0001651	inframe_deletion	6836					endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane	protein binding	g.chr9:136230378_136230380delCTT		CCDS6968.1, CCDS65177.1, CCDS65178.1, CCDS75929.1	9q33-q34	2008-07-21			ENSG00000148248	ENSG00000148248			11476	protein-coding gene	gene with protein product	"surfeit locus protein 4", "surface 4 integral membrane protein"	185660				8499913, 7540914	Standard	NM_033161		Approved	ERV29, FLJ22993, MGC102753	uc004cdj.3	O15260	OTTHUMG00000020868	ENST00000371989.3:c.799_801delAAG	9.37:g.136230384_136230386delCTT	ENSP00000361057:p.Lys267del					SURF4_ENST00000545297.1_3'UTR|SURF4_ENST00000485435.2_Intron	p.K267del	NM_033161.2	NP_149351.1	O15260	SURF4_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.32e-07)|Epithelial(140;4.56e-06)|all cancers(34;4.25e-05)	6	928_930	-			267					B7Z6A4|O60923|Q5T8U6|Q9UNZ0|Q9UNZ1	In_Frame_Del	DEL	ENST00000371989.3	37	c.799_801delAAG	CCDS6968.1																																																																																				0.547	SURF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054886.1	NM_033161		9	30						9	30	---	---	---	---	-	136230380	CTT	-	136230378	7	5	305	1	0	1	0	1	0	0	0	0	15402	680	24	0	12	0	SURF4	9	136230378	In_Frame_Del	DEL	CTT	TCGA-KK-A59V-01A-11D-A29Q-08	146845	136230378	4983053	550	15067											
SEC16A	9919	broad.mit.edu	37	chr9	139350603	139350603	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagctggggatcgaagagtcGtaactgggaagccatctaga	12	7	14	8	2	1	2	0	0	1	2	3	5	1	4	1	3	3	2	1	3	4	2			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr9:139350603G>A	ENST00000371706.3	-	17	5065	c.5032C>T	c.(5032-5034)Cga>Tga	p.R1678*	SEC16A_ENST00000290037.6_Nonsense_Mutation_p.R1678*|SEC16A_ENST00000431893.2_Nonsense_Mutation_p.R1678*|SEC16A_ENST00000313050.7_Nonsense_Mutation_p.R1856*			O15027	SC16A_HUMAN	SEC16 homolog A (S. cerevisiae)	1678					COPII vesicle coating (GO:0048208)|endoplasmic reticulum organization (GO:0007029)|protein transport (GO:0015031)|substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)				breast(1)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(15)|lung(14)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Myeloproliferative disorder(178;0.0511)		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)		TCGAAGAGTCGTAACTGGGAA	0.567																																						ENST00000313050.7																			0				breast(1)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(15)|lung(14)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						c.(5566-5568)Cga>Tga		SEC16 homolog A (S. cerevisiae)							60	63	62					9																	139350603		1923	4128	6051	SO:0001587	stop_gained	9919				protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane		g.chr9:139350603G>A	AK074565	CCDS55351.1, CCDS75936.1	9q34.3	2007-06-20	2007-06-20	2007-06-20	ENSG00000148396	ENSG00000148396			29006	protein-coding gene	gene with protein product		612854	"KIAA0310"	KIAA0310		9205841	Standard	NM_014866		Approved	p250	uc004chx.3	O15027	OTTHUMG00000020932	ENST00000371706.3:c.5032C>T	9.37:g.139350603G>A	ENSP00000360771:p.Arg1678*					SEC16A_ENST00000290037.6_Nonsense_Mutation_p.R1678*|SEC16A_ENST00000371706.3_Nonsense_Mutation_p.R1678*|SEC16A_ENST00000431893.2_Nonsense_Mutation_p.R1678*	p.R1856*	NM_014866.1	NP_055681.1	O15027	SC16A_HUMAN		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)	17	5639	-		Myeloproliferative disorder(178;0.0511)	1678			Pro-rich.		A1YCA4|Q4G0D7|Q5SXP0|Q5SXP1|Q8N347|Q96HP1	Nonsense_Mutation	SNP	ENST00000371706.3	37	c.5566C>T		.	.	.	.	.	.	.	.	.	.	G	44	11.263840	0.99539	.	.	ENSG00000148396	ENST00000313050;ENST00000277537;ENST00000453963;ENST00000371706;ENST00000290037;ENST00000431893;ENST00000404925	.	.	.	5.0	5.0	0.66597	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-21.3099	15.3663	0.74526	0.0:0.0:1.0:0.0	.	.	.	.	X	1856;250;578;1678;1678;1678;1246	.	ENSP00000277537:R250X	R	-	1	2	SEC16A	138470424	1.000000	0.71417	0.329000	0.25429	0.968000	0.65278	2.590000	0.46154	2.463000	0.83235	0.561000	0.74099	CGA		0.567	SEC16A-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000055077.1	XM_088459		4	77	0	0	0	1	0	4	77					A	139350603	G	A	139350603	4	1	305	1	0	0	0	0	0	1	0	0	13986	1153	40	1	1563	1	SEC16A	9	139350603	Nonsense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	3120225	139350603	1862828	551	15068											
PNPLA7	375775	broad.mit.edu	37	chr9	140361795	140361795	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccactgcttggcccggatccGcatctggctgtagttccgct	4	11	11	15	3	1	0	0	0	1	0	3	1	3	1	4	3	1	6	4	3	1	3			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr9:140361795G>A	ENST00000277531.4	-	25	3124	c.2938C>T	c.(2938-2940)Cgg>Tgg	p.R980W	PNPLA7_ENST00000406427.1_Missense_Mutation_p.R1005W|PNPLA7_ENST00000492278.1_5'UTR|PNPLA7_ENST00000371457.1_Missense_Mutation_p.R586W	NM_152286.3	NP_689499.3	Q6ZV29	PLPL7_HUMAN	patatin-like phospholipase domain containing 7	980	Patatin.				lipid metabolic process (GO:0006629)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	lysophospholipase activity (GO:0004622)			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_cancers(76;0.126)			OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839)		GCCCGGATCCGCATCTGGCTG	0.677																																						ENST00000406427.1																			0				breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						c.(3013-3015)Cgg>Tgg		patatin-like phospholipase domain containing 7							107	78	88					9																	140361795		2202	4299	6501	SO:0001583	missense	375775				lipid metabolic process	endoplasmic reticulum|integral to membrane|lysosomal membrane|microsome|mitochondrial membrane|nuclear membrane	hydrolase activity	g.chr9:140361795G>A	AK126267	CCDS7045.1, CCDS48070.1	9q34.3	2009-01-12	2006-06-12	2006-06-12	ENSG00000130653	ENSG00000130653		"Patatin-like phospholipase domain containing"	24768	protein-coding gene	gene with protein product		612122	"chromosome 9 open reading frame 111"	C9orf111		16799181, 12640454, 19029121	Standard	XM_005266082		Approved	FLJ43070, FLJ31318, FLJ44279, RP11-48C7.2, NTEL1, NTE-R1	uc010ncj.1	Q6ZV29	OTTHUMG00000020990	ENST00000277531.4:c.2938C>T	9.37:g.140361795G>A	ENSP00000277531:p.Arg980Trp					PNPLA7_ENST00000371457.1_Missense_Mutation_p.R586W|PNPLA7_ENST00000492278.1_5'UTR|PNPLA7_ENST00000277531.4_Missense_Mutation_p.R980W	p.R1005W	NM_001098537.1	NP_001092007.1	Q6ZV29	PLPL7_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839)	26	3349	-	all_cancers(76;0.126)		980			Patatin.		B5MDD3|Q5T364|Q658X0|Q658Y3|Q6ZTS1|Q86YU8|Q8TAY5|Q96N75|Q9H7N5	Missense_Mutation	SNP	ENST00000277531.4	37	c.3013C>T	CCDS7045.1	.	.	.	.	.	.	.	.	.	.	G	15.79	2.938167	0.52972	.	.	ENSG00000130653	ENST00000371457;ENST00000371446;ENST00000277531;ENST00000406427;ENST00000371451;ENST00000434090	T;T;T;T;T	0.26518	1.73;1.73;1.73;1.73;1.73	5.41	2.23	0.28157	Acyl transferase/acyl hydrolase/lysophospholipase (1);Patatin/Phospholipase A2-related (1);	0.052297	0.85682	D	0.000000	T	0.39989	0.1099	L	0.58302	1.8	0.35402	D	0.791689	D;D;D;D	0.89917	1.0;1.0;1.0;0.997	D;D;D;D	0.76071	0.987;0.987;0.978;0.948	T	0.46190	-0.9209	10	0.45353	T	0.12	-31.1625	6.8038	0.23766	0.092:0.0:0.3732:0.5348	.	388;1005;980;246	E2QRF8;Q6ZV29-5;Q6ZV29;B3KXH5	.;.;PLPL7_HUMAN;.	W	586;388;980;1005;980;971	ENSP00000360512:R586W;ENSP00000360501:R388W;ENSP00000277531:R980W;ENSP00000384610:R1005W;ENSP00000400582:R971W	ENSP00000277531:R980W	R	-	1	2	PNPLA7	139481616	0.649000	0.27322	0.177000	0.23020	0.597000	0.36814	1.921000	0.40035	0.629000	0.30376	0.561000	0.74099	CGG		0.677	PNPLA7-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254787.1	NM_152286		13	32	0	0	0	1	0	13	32					A	140361795	G	A	140361795	3	1	305	1	0	0	0	0	1	0	0	0	12170	1086	38	1	1055	1	PNPLA7	9	140361795	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	1011192	140361795	851636	552	15069											
PITRM1	10531	broad.mit.edu	37	chr10	3189816	3189816	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cccctgcgggcgtgagggtcCggcctgccctgatggatgcg	3	7	17	14	4	0	2	0	2	0	0	1	3	1	3	5	4	3	0	5	4	0	0	rs201454628	byFrequency	TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr10:3189816C>T	ENST00000224949.4	-	19	2217	c.2183G>A	c.(2182-2184)cGg>cAg	p.R728Q	PITRM1-AS1_ENST00000598280.1_RNA|PITRM1-AS1_ENST00000601046.1_RNA|PITRM1-AS1_ENST00000441377.1_RNA|PITRM1_ENST00000380994.1_Missense_Mutation_p.R286Q|PITRM1_ENST00000380989.2_Missense_Mutation_p.R729Q|PITRM1_ENST00000464395.1_5'UTR|PITRM1_ENST00000451104.2_Missense_Mutation_p.R630Q			Q5JRX3	PREP_HUMAN	pitrilysin metallopeptidase 1	728					positive regulation of catalytic activity (GO:0043085)|proteolysis (GO:0006508)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	enzyme activator activity (GO:0008047)|metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			breast(2)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|urinary_tract(3)	33						CGTGAGGGTCCGGCCTGCCCT	0.582													C|||	6	0.00119808	0.0045	0	5008	,	,		16160	0		0	False		,,,				2504	0					ENST00000380989.2																			0				breast(2)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|urinary_tract(3)	33						c.(2185-2187)cGg>cAg		pitrilysin metallopeptidase 1		C	GLN/ARG,GLN/ARG,GLN/ARG	9,3927		0,9,1959	100	110	107		2186,1889,2183	1.8	0.3	10		107	0,8330		0,0,4165	yes	missense,missense,missense	PITRM1	NM_001242307.1,NM_001242309.1,NM_014889.3	43,43,43	0,9,6124	TT,TC,CC		0.0,0.2287,0.0734	possibly-damaging,possibly-damaging,possibly-damaging	729/1039,630/940,728/1038	3189816	9,12257	1968	4165	6133	SO:0001583	missense	10531				proteolysis		metalloendopeptidase activity|zinc ion binding	g.chr10:3189816C>T	AB029027	CCDS55699.1, CCDS55700.1, CCDS59208.1	10p15.2	2008-07-30	2005-08-17		ENSG00000107959	ENSG00000107959			17663	protein-coding gene	gene with protein product	"PreP peptidasome"		"pitrilysin metalloproteinase 1"			1036083, 10470851, 16849325	Standard	NM_014889		Approved	MP1, KIAA1104, hMP1, PreP	uc009xhv.2	Q5JRX3	OTTHUMG00000017557	ENST00000224949.4:c.2183G>A	10.37:g.3189816C>T	ENSP00000224949:p.Arg728Gln					PITRM1-AS1_ENST00000598280.1_RNA|PITRM1_ENST00000380994.1_Missense_Mutation_p.R286Q|PITRM1_ENST00000464395.1_5'UTR|PITRM1-AS1_ENST00000601046.1_RNA|PITRM1_ENST00000451104.2_Missense_Mutation_p.R630Q|PITRM1_ENST00000224949.4_Missense_Mutation_p.R728Q	p.R729Q	NM_001242307.1|NM_014889.3	NP_001229236.1|NP_055704.2	E7ES23	E7ES23_HUMAN			19	2224	-			630					B3KMJ6|B4E0J8|C9JSL2|E7ES23|O95204|Q2M2G6|Q4VBR1|Q5JRW7|Q7L5Z7|Q9BSI6|Q9BVJ5|Q9UPP8	Missense_Mutation	SNP	ENST00000224949.4	37	c.2186G>A	CCDS59208.1	.	.	.	.	.	.	.	.	.	.	c	12.15	1.851313	0.32699	0.002287	0.0	ENSG00000107959	ENST00000224949;ENST00000380980;ENST00000380989;ENST00000380994;ENST00000451104	T;T;T;T	0.29917	1.55;1.55;1.55;1.55	5.69	1.79	0.24919	Peptidase M16C associated (1);Metalloenzyme, LuxS/M16 peptidase-like, metal-binding (1);	0.330920	0.38837	N	0.001559	T	0.30759	0.0775	M	0.72894	2.215	0.22066	N	0.999386	B;P;B;B;B	0.37233	0.166;0.588;0.433;0.433;0.433	B;B;B;B;B	0.36808	0.03;0.156;0.156;0.156;0.233	T	0.14008	-1.0488	10	0.51188	T	0.08	.	9.519	0.39124	0.0:0.623:0.0:0.377	.	721;630;729;728;721	E9PDX6;E7ES23;C9JSL2;Q5JRX3;B4DH07	.;.;.;PREP_HUMAN;.	Q	728;721;729;286;630	ENSP00000224949:R728Q;ENSP00000370377:R729Q;ENSP00000370382:R286Q;ENSP00000401201:R630Q	ENSP00000224949:R728Q	R	-	2	0	PITRM1	3179816	0.963000	0.33076	0.269000	0.24586	0.040000	0.13550	1.157000	0.31724	0.074000	0.16767	0.561000	0.74099	CGG		0.582	PITRM1-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000046469.2			46	150	0	0	0	1	0	46	150					T	3189816	C	T	3189816	3	4	305	1	0	0	0	0	1	0	0	0	11953	652	23	2	966	2	PITRM1	10	3189816	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08		3189816	132344931	553	15070											
ASB13	79754	broad.mit.edu	37	chr10	5691016	5691016	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcccaaaatggcaatcgtgcGcttccagattggccccgacg	9	8	10	14	4	0	1	0	0	0	1	3	2	2	1	4	2	1	2	4	2	3	2			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr10:5691016G>A	ENST00000357700.6	-	4	460	c.434C>T	c.(433-435)gCg>gTg	p.A145V	ASB13_ENST00000479033.1_5'UTR	NM_024701.3	NP_078977.2	Q8WXK3	ASB13_HUMAN	ankyrin repeat and SOCS box containing 13	145					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)					NS(1)|endometrium(3)|lung(3)|ovary(1)	8				GBM - Glioblastoma multiforme(2;9.59e-09)		GCAATCGTGCGCTTCCAGATT	0.537																																						ENST00000357700.6																			0				NS(1)|endometrium(3)|lung(3)|ovary(1)	8						c.(433-435)gCg>gTg		ankyrin repeat and SOCS box containing 13							129	114	119					10																	5691016		2203	4300	6503	SO:0001583	missense	79754				intracellular signal transduction		protein binding	g.chr10:5691016G>A	AK091935	CCDS7070.1	10p15.1	2013-01-10	2011-01-25		ENSG00000196372	ENSG00000196372		"Ankyrin repeat domain containing"	19765	protein-coding gene	gene with protein product		615055	"ankyrin repeat and SOCS box-containing 13"			12076535	Standard	NM_024701		Approved	FLJ13134, MGC19879	uc001iig.2	Q8WXK3	OTTHUMG00000017603	ENST00000357700.6:c.434C>T	10.37:g.5691016G>A	ENSP00000350331:p.Ala145Val					ASB13_ENST00000479033.1_5'UTR	p.A145V	NM_024701.3	NP_078977.2	Q8WXK3	ASB13_HUMAN		GBM - Glioblastoma multiforme(2;9.59e-09)	4	460	-			145					A8K7Q6|D3DRR2|Q96EP7|Q9H8Z1	Missense_Mutation	SNP	ENST00000357700.6	37	c.434C>T	CCDS7070.1	.	.	.	.	.	.	.	.	.	.	G	16.73	3.205275	0.58234	.	.	ENSG00000196372	ENST00000357700	T	0.67865	-0.29	4.7	4.7	0.59300	Ankyrin repeat-containing domain (4);	0.000000	0.85682	D	0.000000	T	0.71829	0.3386	N	0.21282	0.65	0.80722	D	1	D;D	0.89917	1.0;0.98	D;P	0.80764	0.994;0.786	T	0.74970	-0.3482	10	0.49607	T	0.09	-27.1388	17.2425	0.87017	0.0:0.0:1.0:0.0	.	145;145	Q8WXK3-2;Q8WXK3	.;ASB13_HUMAN	V	145	ENSP00000350331:A145V	ENSP00000350331:A145V	A	-	2	0	ASB13	5731022	1.000000	0.71417	0.955000	0.39395	0.110000	0.19582	9.370000	0.97159	2.169000	0.68431	0.313000	0.20887	GCG		0.537	ASB13-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046564.1			44	105	0	0	0	1	0	44	105					A	5691016	G	A	5691016	3	1	305	1	0	0	0	0	1	0	0	0	1017	1087	38	1	414	1	ASB13	10	5691016	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	2501200	5691016	129843731	554	15071											
DHTKD1	55526	broad.mit.edu	37	chr10	12131158	12131158	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggccgtcaaccccgtggcCgtgggcaaaactcgcggcag	8	4	15	14	5	1	0	1	0	0	0	2	1	1	0	4	4	2	2	4	4	3	0	rs576048100		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr10:12131158C>T	ENST00000263035.4	+	5	953	c.891C>T	c.(889-891)gcC>gcT	p.A297A	DHTKD1_ENST00000465617.1_Intron	NM_018706.5	NP_061176	Q96HY7	DHTK1_HUMAN	dehydrogenase E1 and transketolase domain containing 1	297					cell death (GO:0008219)|generation of precursor metabolites and energy (GO:0006091)|glycolytic process (GO:0006096)|hematopoietic progenitor cell differentiation (GO:0002244)|tricarboxylic acid cycle (GO:0006099)	mitochondrion (GO:0005739)	oxoglutarate dehydrogenase (succinyl-transferring) activity (GO:0004591)|thiamine pyrophosphate binding (GO:0030976)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(1)	44		Renal(717;0.228)	BRCA - Breast invasive adenocarcinoma(52;0.188)			ACCCCGTGGCCGTGGGCAAAA	0.612													C|||	1	0.000199681	0	0	5008	,	,		17266	0		0.001	False		,,,				2504	0					ENST00000263035.4																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(1)	44						c.(889-891)gcC>gcT		dehydrogenase E1 and transketolase domain containing 1							84	75	78					10																	12131158		2203	4300	6503	SO:0001819	synonymous_variant	55526				glycolysis	mitochondrion	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding	g.chr10:12131158C>T	BC002477	CCDS7087.1	10p14	2003-11-24			ENSG00000181192	ENSG00000181192			23537	protein-coding gene	gene with protein product		614984				10997877	Standard	NM_018706		Approved	KIAA1630, MGC3090, DKFZP762M115	uc001ild.5	Q96HY7	OTTHUMG00000017677	ENST00000263035.4:c.891C>T	10.37:g.12131158C>T						DHTKD1_ENST00000465617.1_Intron	p.A297A	NM_018706.5	NP_061176.3	Q96HY7	DHTK1_HUMAN	BRCA - Breast invasive adenocarcinoma(52;0.188)		5	953	+		Renal(717;0.228)	297					Q68CU5|Q9BUM8|Q9HCE2	Silent	SNP	ENST00000263035.4	37	c.891C>T	CCDS7087.1																																																																																				0.612	DHTKD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046777.1	NM_018706		7	117	0	0	0	1	0	7	117					T	12131158	C	T	12131158	2	4	305	1	0	0	0	0	0	0	0	1	4500	639	23	2		2	DHTKD1	10	12131158	Silent	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	6440142	12131158	123403589	555	15072											
MCM10	55388	broad.mit.edu	37	chr10	13230974	13230974	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtccaccttctctggaggaCgaattccaaagaagtttgcc	11	10	9	11	1	1	1	0	0	1	1	4	4	3	3	4	2	1	1	4	2	3	3			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr10:13230974C>T	ENST00000484800.2	+	10	1415	c.1312C>T	c.(1312-1314)Cga>Tga	p.R438*	MCM10_ENST00000378714.3_Nonsense_Mutation_p.R437*|MCM10_ENST00000378694.1_Nonsense_Mutation_p.R437*			Q7L590	MCM10_HUMAN	minichromosome maintenance complex component 10	438					cell proliferation (GO:0008283)|DNA replication (GO:0006260)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)			central_nervous_system(1)|large_intestine(4)|ovary(2)|skin(1)|stomach(1)	9						CTCTGGAGGACGAATTCCAAA	0.537																																						ENST00000378694.1																			0				central_nervous_system(1)|large_intestine(4)|ovary(2)|skin(1)|stomach(1)	9						c.(1309-1311)Cga>Tga		minichromosome maintenance complex component 10							129	124	126					10																	13230974		2203	4300	6503	SO:0001587	stop_gained	55388				cell cycle checkpoint|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle	nucleoplasm	metal ion binding|protein binding	g.chr10:13230974C>T	AB042719	CCDS7095.1, CCDS7096.1	10p13	2008-08-01	2007-04-04		ENSG00000065328	ENSG00000065328			18043	protein-coding gene	gene with protein product		609357	"MCM10 minichromosome maintenance deficient 10 (S. cerevisiae)"			11095689, 17699597	Standard	NM_018518		Approved	PRO2249, CNA43, DNA43	uc001ima.3	Q7L590	OTTHUMG00000017694	ENST00000484800.2:c.1312C>T	10.37:g.13230974C>T	ENSP00000418268:p.Arg438*					MCM10_ENST00000378714.3_Nonsense_Mutation_p.R437*|MCM10_ENST00000484800.2_Nonsense_Mutation_p.R438*	p.R437*			Q7L590	MCM10_HUMAN			9	1384	+			438					A8K9I6|B7ZKZ8|Q3MIR3|Q7LD55|Q96GX4|Q96NB6|Q9H0D7|Q9H3P9|Q9P177	Nonsense_Mutation	SNP	ENST00000484800.2	37	c.1309C>T	CCDS7096.1	.	.	.	.	.	.	.	.	.	.	C	40	8.359748	0.98777	.	.	ENSG00000065328	ENST00000378714;ENST00000361282;ENST00000484800;ENST00000378694	.	.	.	5.62	5.62	0.85841	.	0.351100	0.33477	N	0.004878	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-23.8259	20.0359	0.97557	0.0:1.0:0.0:0.0	.	.	.	.	X	437;438;438;437	.	ENSP00000354945:R438X	R	+	1	2	MCM10	13270980	1.000000	0.71417	0.993000	0.49108	0.996000	0.88848	3.554000	0.53720	2.805000	0.96524	0.655000	0.94253	CGA		0.537	MCM10-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356853.1	NM_182751		5	175	0	0	0	1	0	5	175					T	13230974	C	T	13230974	4	4	305	1	0	0	0	0	0	1	0	0	9385	528	19	1	1346	1	MCM10	10	13230974	Nonsense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	1099816	13230974	122303773	556	15073											
UCMA	221044	broad.mit.edu	37	chr10	13264116	13264116	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgggatcaggtgtggtggCggttgtagagataggatggg	8	10	21	2	1	1	1	1	0	0	1	1	5	1	3	0	7	0	2	0	7	2	3			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr10:13264116C>T	ENST00000378681.3	-	5	476	c.404G>A	c.(403-405)cGc>cAc	p.R135H	UCMA_ENST00000463405.2_Missense_Mutation_p.R113H	NM_145314.1	NP_660357.2	Q8WVF2	UCMA_HUMAN	upper zone of growth plate and cartilage matrix associated	135					negative regulation of osteoblast differentiation (GO:0045668)	aggresome (GO:0016235)|extracellular space (GO:0005615)|perinuclear region of cytoplasm (GO:0048471)|proteinaceous extracellular matrix (GO:0005578)				breast(2)|endometrium(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)	9						GGTGTGGTGGCGGTTGTAGAG	0.587																																						ENST00000378681.3																			0				breast(2)|endometrium(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)	9						c.(403-405)cGc>cAc		upper zone of growth plate and cartilage matrix associated							127	113	118					10																	13264116		2203	4300	6503	SO:0001583	missense	221044					proteinaceous extracellular matrix		g.chr10:13264116C>T	BC018068	CCDS31147.1	10p13	2009-03-25	2009-03-25	2009-03-25	ENSG00000165623	ENSG00000165623			25205	protein-coding gene	gene with protein product			"chromosome 10 open reading frame 49"	C10orf49		12477932	Standard	NM_145314		Approved		uc001imd.3	Q8WVF2	OTTHUMG00000017692	ENST00000378681.3:c.404G>A	10.37:g.13264116C>T	ENSP00000367952:p.Arg135His					UCMA_ENST00000463405.2_Missense_Mutation_p.R113H	p.R135H	NM_145314.1	NP_660357.2	Q8WVF2	UCMA_HUMAN			5	476	-			135						Missense_Mutation	SNP	ENST00000378681.3	37	c.404G>A	CCDS31147.1	.	.	.	.	.	.	.	.	.	.	C	18.03	3.532927	0.64972	.	.	ENSG00000165623	ENST00000378681	.	.	.	5.16	5.16	0.70880	.	0.000000	0.85682	D	0.000000	T	0.74574	0.3734	L	0.49640	1.575	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	T	0.77048	-0.2732	9	0.87932	D	0	-5.7598	15.5703	0.76330	0.0:1.0:0.0:0.0	.	135	Q8WVF2	UCMA_HUMAN	H	135	.	ENSP00000367952:R135H	R	-	2	0	UCMA	13304122	1.000000	0.71417	1.000000	0.80357	0.166000	0.22503	2.930000	0.48924	2.412000	0.81896	0.448000	0.29417	CGC		0.587	UCMA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046843.2	NM_145314		15	45	0	0	0	1	0	15	45					T	13264116	C	T	13264116	3	4	305	1	0	0	0	0	1	0	0	0	16923	768	27	1	16	1	UCMA	10	13264116	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	33142	13264116	122270631	557	15074											
RPP38	10557	broad.mit.edu	37	chr10	15145385	15145385	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cctctggttgtgaagacgtcGttgaacaacccatacatcat	11	11	8	11	2	2	3	1	2	1	1	3	3	2	3	2	1	3	2	2	1	4	3			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr10:15145385G>A	ENST00000378197.4	+	3	586	c.72G>A	c.(70-72)tcG>tcA	p.S24S	NMT2_ENST00000466201.1_5'UTR|RPP38_ENST00000451677.1_Intron|RPP38_ENST00000378202.5_Silent_p.S24S	NM_183005.4	NP_892117.1	P78345	RPP38_HUMAN	ribonuclease P/MRP 38kDa subunit	24				S -> A (in Ref. 1; AA sequence). {ECO:0000305}.	RNA phosphodiester bond hydrolysis (GO:0090501)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|tRNA processing (GO:0008033)	nucleolar ribonuclease P complex (GO:0005655)|nucleus (GO:0005634)	ribonuclease P activity (GO:0004526)			breast(1)|endometrium(3)|large_intestine(1)|lung(2)|ovary(1)	8						TGAAGACGTCGTTGAACAACC	0.512																																					GBM(118;1591 1611 9649 34378 50720)	ENST00000378197.4																			0				breast(1)|endometrium(3)|large_intestine(1)|lung(2)|ovary(1)	8						c.(70-72)tcG>tcA		ribonuclease P/MRP 38kDa subunit							73	75	74					10																	15145385		2203	4300	6503	SO:0001819	synonymous_variant	10557				tRNA processing	nucleolar ribonuclease P complex	protein binding|ribonuclease P activity	g.chr10:15145385G>A	U77664	CCDS7108.1	10p13	2012-05-21			ENSG00000152464	ENSG00000152464			30329	protein-coding gene	gene with protein product		606116				9037013, 9630247	Standard	NM_183005		Approved		uc001inx.5	P78345	OTTHUMG00000017728	ENST00000378197.4:c.72G>A	10.37:g.15145385G>A						RPP38_ENST00000378202.5_Silent_p.S24S|NMT2_ENST00000466201.1_5'UTR|RPP38_ENST00000451677.1_Intron	p.S24S	NM_183005.4	NP_892117.1	P78345	RPP38_HUMAN			3	586	+			24	S -> A (in Ref. 1; AA sequence).				B3KPY0|D3DRT8|Q53F71|Q8NHS8	Silent	SNP	ENST00000378197.4	37	c.72G>A	CCDS7108.1																																																																																				0.512	RPP38-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046976.1	NM_006414		27	67	0	0	0	1	0	27	67					A	15145385	G	A	15145385	2	1	305	1	0	0	0	0	0	0	0	1	13613	1132	40	1		1	RPP38	10	15145385	Silent	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	1881269	15145385	120389362	558	15075											
NSUN6	221078	broad.mit.edu	37	chr10	18834895	18834895	+	Frame_Shift_Del	DEL	A	A	-																															cattttacaaattttgcaatAaaaaaacctatagagtcctt																										TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr10:18834895delA	ENST00000377304.4	-	11	1795	c.1377delT	c.(1375-1377)tttfs	p.F459fs	RP11-499P20.2_ENST00000425669.1_RNA|NSUN6_ENST00000493816.1_5'Flank|RP11-499P20.2_ENST00000436485.1_RNA	NM_182543.2	NP_872349.1	Q8TEA1	NSUN6_HUMAN	NOP2/Sun domain family, member 6	459							methyltransferase activity (GO:0008168)|RNA binding (GO:0003723)			endometrium(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	15						ATTTTGCAATAAAAAAACCTA	0.393																																						ENST00000377304.4																			0				endometrium(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	15						c.(1375-1377)ttfs		NOP2/Sun domain family, member 6							93	102	99					10																	18834895		2203	4300	6503	SO:0001589	frameshift_variant	221078						methyltransferase activity|RNA binding	g.chr10:18834895delA	BC035778	CCDS7130.1	10p13	2014-06-23	2009-11-23	2004-08-26	ENSG00000241058	ENSG00000241058		"NOP2/Sun domain containing"	23529	protein-coding gene	gene with protein product			"NOL1/NOP2/Sun domain family 6", "NOL1/NOP2/Sun domain family, member 6", "ARL5B antisense RNA 1"	NOPD1, ARL5B-AS1			Standard	XM_005252394		Approved	FLJ23743	uc010qcp.1	Q8TEA1	OTTHUMG00000017767	ENST00000377304.4:c.1377delT	10.37:g.18834895delA	ENSP00000366519:p.Phe459fs						p.F459fs	NM_182543.2	NP_872349.1	Q8TEA1	NSUN6_HUMAN			11	1795	-			459					B0YJ54	Frame_Shift_Del	DEL	ENST00000377304.4	37	c.1377delT	CCDS7130.1																																																																																				0.393	NSUN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047083.1	NM_182543		10	181						10	181	---	---	---	---	-	18834895	A	-	18834895	7	5	305	1	0	1	0	1	0	0	0	0	10682	359	13	0	36	0	NSUN6	10	18834895	Frame_Shift_Del	DEL	A	TCGA-KK-A59V-01A-11D-A29Q-08	3689510	18834895	116699852	559	15076											
GPR158	57512	broad.mit.edu	37	chr10	25886833	25886833	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ccatcatgagacgcattacgGagatcccagagacagtcagc	13	6	10	12	2	2	3	2	1	0	3	3	6	3	3	2	1	2	1	2	1	1	1			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr10:25886833G>A	ENST00000376351.3	+	11	2637	c.2278G>A	c.(2278-2280)Gag>Aag	p.E760K	GPR158_ENST00000490549.1_3'UTR	NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158	760					protein localization to plasma membrane (GO:0072659)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						ACGCATTACGGAGATCCCAGA	0.532																																						ENST00000376351.3																			0				breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						c.(2278-2280)Gag>Aag		G protein-coupled receptor 158							100	112	108					10																	25886833		2203	4300	6503	SO:0001583	missense	57512					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr10:25886833G>A	AB032962	CCDS31166.1	10p12.31	2012-08-21			ENSG00000151025	ENSG00000151025		"GPCR / Class C : Orphans"	23689	protein-coding gene	gene with protein product		614573					Standard	NM_020752		Approved	KIAA1136	uc001isj.3	Q5T848	OTTHUMG00000017832	ENST00000376351.3:c.2278G>A	10.37:g.25886833G>A	ENSP00000365529:p.Glu760Lys					GPR158_ENST00000490549.1_3'UTR	p.E760K	NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN			11	2637	+			760					Q6QR81|Q9ULT3	Missense_Mutation	SNP	ENST00000376351.3	37	c.2278G>A	CCDS31166.1	.	.	.	.	.	.	.	.	.	.	G	35	5.439428	0.96168	.	.	ENSG00000151025	ENST00000376351	T	0.67523	-0.27	5.54	5.54	0.83059	.	0.000000	0.64402	D	0.000004	T	0.82042	0.4951	M	0.72353	2.195	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.82478	-0.0437	10	0.56958	D	0.05	.	19.4771	0.94994	0.0:0.0:1.0:0.0	.	760	Q5T848	GP158_HUMAN	K	760	ENSP00000365529:E760K	ENSP00000365529:E760K	E	+	1	0	GPR158	25926839	1.000000	0.71417	0.902000	0.35471	0.673000	0.39480	9.476000	0.97823	2.606000	0.88127	0.650000	0.86243	GAG		0.532	GPR158-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047248.2	XM_166110		4	169	0	0	0	1	0	4	169					A	25886833	G	A	25886833	3	1	305	1	0	0	0	0	1	0	0	0	6663	1175	41	3	2320	3	GPR158	10	25886833	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	7051938	25886833	109647914	560	15077											
MYO3A	53904	broad.mit.edu	37	chr10	26463097	26463097	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	atcaaaatgcaaacagcatgGaaaaagaaaagaagacatct	23	5	7	6	0	2	3	1	0	1	3	2	4	2	4	0	1	3	2	0	1	8	0			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr10:26463097G>T	ENST00000265944.5	+	30	4070	c.3904G>T	c.(3904-3906)Gaa>Taa	p.E1302*	MYO3A_ENST00000543632.1_Intron	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	1302					ATP catabolic process (GO:0006200)|inner ear development (GO:0048839)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of filopodium assembly (GO:0051491)|protein autophosphorylation (GO:0046777)|response to stimulus (GO:0050896)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|filamentous actin (GO:0031941)|filopodium (GO:0030175)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|photoreceptor inner segment (GO:0001917)|stereocilium bundle tip (GO:0032426)	actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|plus-end directed microfilament motor activity (GO:0060002)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						AAACAGCATGGAAAAAGAAAA	0.448																																						ENST00000265944.5																			0				NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						c.(3904-3906)Gaa>Taa		myosin IIIA							92	98	96					10																	26463097		2203	4300	6503	SO:0001587	stop_gained	53904				protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity	g.chr10:26463097G>T	AF229172	CCDS7148.1	10p11.1	2011-09-27	2004-05-19		ENSG00000095777	ENSG00000095777		"Myosins / Myosin superfamily : Class III"	7601	protein-coding gene	gene with protein product		606808	"deafness, autosomal recessive 30"	DFNB30		10936054	Standard	NM_017433		Approved		uc001isn.2	Q8NEV4	OTTHUMG00000017837	ENST00000265944.5:c.3904G>T	10.37:g.26463097G>T	ENSP00000265944:p.Glu1302*					MYO3A_ENST00000543632.1_Intron	p.E1302*	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN			30	4070	+			1302					Q4G0X2|Q5VZ28|Q8WX17|Q9NYS8	Nonsense_Mutation	SNP	ENST00000265944.5	37	c.3904G>T	CCDS7148.1	.	.	.	.	.	.	.	.	.	.	G	38	6.964295	0.97967	.	.	ENSG00000095777	ENST00000265944	.	.	.	5.36	2.1	0.27182	.	0.427727	0.26891	N	0.021969	.	.	.	.	.	.	0.18873	N	0.999987	.	.	.	.	.	.	.	.	.	.	0.48119	T	0.1	.	6.9271	0.24422	0.2134:0.0:0.6497:0.137	.	.	.	.	X	1302	.	ENSP00000265944:E1302X	E	+	1	0	MYO3A	26503103	0.048000	0.20356	0.307000	0.25127	0.076000	0.17211	1.022000	0.30052	1.265000	0.44215	-0.217000	0.12591	GAA		0.448	MYO3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047259.1	NM_017433		22	92	1	0	1.22574e-08	1	1.26671e-08	22	92					T	26463097	G	T	26463097	4	4	305	1	0	0	0	0	0	1	0	0	10076	1175	41	5	4014	5	MYO3A	10	26463097	Nonsense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	576264	26463097	109071650	561	15078											
ARMC4	55130	broad.mit.edu	37	chr10	28272875	28272875	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccccacgaatttgtctccacGgtggggctcgacatccattt	7	11	9	14	3	1	0	0	0	1	0	4	2	2	0	4	3	0	1	4	3	1	2			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr10:28272875G>A	ENST00000305242.5	-	6	808	c.716C>T	c.(715-717)cCg>cTg	p.P239L	ARMC4_ENST00000537576.1_5'Flank|ARMC4_ENST00000480504.1_5'Flank|ARMC4_ENST00000239715.3_Missense_Mutation_p.P96L|ARMC4_ENST00000545014.1_5'Flank	NM_018076.2	NP_060546.2	Q5T2S8	ARMC4_HUMAN	armadillo repeat containing 4	239					cell projection organization (GO:0030030)|cilium movement (GO:0003341)|left/right axis specification (GO:0070986)|outer dynein arm assembly (GO:0036158)|ventricular system development (GO:0021591)	axoneme (GO:0005930)|ciliary base (GO:0097546)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)				NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3)	75						TTGTCTCCACGGTGGGGCTCG	0.408																																						ENST00000305242.5																			0				NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3)	75						c.(715-717)cCg>cTg		armadillo repeat containing 4							65	62	63					10																	28272875		2203	4300	6503	SO:0001583	missense	55130						binding	g.chr10:28272875G>A	AL136859	CCDS7157.1	10p12.1-p11.23	2014-02-03			ENSG00000169126	ENSG00000169126		"Armadillo repeat containing"	25583	protein-coding gene	gene with protein product		615408				11230166	Standard	XM_005252485		Approved	FLJ10817, FLJ10376, DKFZP434P1735, CILD23	uc001itz.3	Q5T2S8	OTTHUMG00000017867	ENST00000305242.5:c.716C>T	10.37:g.28272875G>A	ENSP00000306410:p.Pro239Leu					ARMC4_ENST00000239715.3_Missense_Mutation_p.P96L	p.P239L	NM_018076.2	NP_060546.2	Q5T2S8	ARMC4_HUMAN			6	808	-			239					A8K906|B7Z7I1|Q9H0C0	Missense_Mutation	SNP	ENST00000305242.5	37	c.716C>T	CCDS7157.1	.	.	.	.	.	.	.	.	.	.	G	23.9	4.470806	0.84533	.	.	ENSG00000169126	ENST00000305242;ENST00000434029;ENST00000239715	T;T;T	0.70869	-0.09;-0.47;-0.52	5.67	4.73	0.59995	.	0.114744	0.64402	D	0.000010	D	0.83848	0.5343	M	0.80847	2.515	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.85944	0.1460	10	0.87932	D	0	-9.2246	13.1946	0.59730	0.081:0.0:0.919:0.0	.	239	Q5T2S8	ARMC4_HUMAN	L	239;133;96	ENSP00000306410:P239L;ENSP00000398155:P133L;ENSP00000239715:P96L	ENSP00000239715:P96L	P	-	2	0	ARMC4	28312881	1.000000	0.71417	0.993000	0.49108	0.873000	0.50193	5.866000	0.69590	1.301000	0.44836	0.655000	0.94253	CCG		0.408	ARMC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047339.1	NM_018076		6	41	0	0	0	1	0	6	41					A	28272875	G	A	28272875	3	1	305	1	0	0	0	0	1	0	0	0	953	1116	39	2	2478	2	ARMC4	10	28272875	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	1809778	28272875	107261872	562	15079											
ZNF33B	7582	broad.mit.edu	37	chr10	43088126	43088126	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gagatttgacttttgagagaAggttttcctgcatgtgttac	9	16	11	5	0	0	4	0	2	0	2	1	6	1	4	1	1	2	3	1	1	2	6	rs561268897		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr10:43088126A>G	ENST00000359467.3	-	5	2386	c.2272T>C	c.(2272-2274)Ttc>Ctc	p.F758L	ZNF33B_ENST00000486187.1_RNA	NM_006955.1	NP_008886.1	Q06732	ZN33B_HUMAN	zinc finger protein 33B	758					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(15)|skin(1)|stomach(1)	29						TTTTGAGAGAAGGTTTTCCTG	0.373																																					Melanoma(137;1247 1767 16772 25727 43810)	ENST00000359467.3																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(15)|skin(1)|stomach(1)	29						c.(2272-2274)Ttc>Ctc		zinc finger protein 33B							149	143	145					10																	43088126		2203	4300	6503	SO:0001583	missense	7582					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr10:43088126A>G	X68688, AJ491697	CCDS7198.1	10q11.2	2013-01-08	2005-03-18		ENSG00000196693	ENSG00000196693		"Zinc fingers, C2H2-type", "-"	13097	protein-coding gene	gene with protein product		194522	"zinc finger protein 33b (KOX 31)", "zinc finger protein 11B"	ZNF11B		2014798	Standard	NM_006955		Approved	KOX31, KOX2	uc001jaf.1	Q06732	OTTHUMG00000018014	ENST00000359467.3:c.2272T>C	10.37:g.43088126A>G	ENSP00000352444:p.Phe758Leu					ZNF33B_ENST00000486187.1_RNA	p.F758L	NM_006955.1	NP_008886.1	Q06732	ZN33B_HUMAN			5	2386	-			758					Q06731|Q32MA2|Q86XY8|Q8NDW3	Missense_Mutation	SNP	ENST00000359467.3	37	c.2272T>C	CCDS7198.1	.	.	.	.	.	.	.	.	.	.	A	12.70	2.015737	0.35606	.	.	ENSG00000196693	ENST00000359467;ENST00000395836	T	0.46063	0.88	2.5	2.5	0.30297	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.35378	N	0.003255	T	0.50000	0.1590	M	0.92604	3.325	0.32529	N	0.535242	B	0.06786	0.001	B	0.12837	0.008	T	0.63157	-0.6700	10	0.87932	D	0	.	8.8861	0.35404	1.0:0.0:0.0:0.0	.	758	Q06732	ZN33B_HUMAN	L	758;724	ENSP00000352444:F758L	ENSP00000352444:F758L	F	-	1	0	ZNF33B	42408132	1.000000	0.71417	0.992000	0.48379	0.606000	0.37113	5.710000	0.68392	1.394000	0.46624	0.336000	0.21669	TTC		0.373	ZNF33B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_006955		4	155	0	0	0	1	0	4	155					G	43088126	A	G	43088126	3	3	305	1	0	0	0	0	1	0	0	0	17852	72	3	4	68	4	ZNF33B	10	43088126	Missense_Mutation	SNP	A	TCGA-KK-A59V-01A-11D-A29Q-08	14815251	43088126	92446621	563	15080											
FAM21C	253725	broad.mit.edu	37	chr10	46272820	46272820	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtggataagaaggttgagAgtgccaaggagtcattaaaa	15	9	13	4	0	1	2	1	1	0	2	1	5	1	4	1	3	1	1	1	3	5	3			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr10:46272820A>G	ENST00000336378.4	+	22	2354	c.2236A>G	c.(2236-2238)Agt>Ggt	p.S746G	FAM21C_ENST00000537517.1_Intron|FAM21C_ENST00000540872.1_Missense_Mutation_p.S748G|FAM21C_ENST00000374362.2_Missense_Mutation_p.S748G|FAM21C_ENST00000359860.4_Missense_Mutation_p.S690G	NM_015262.2	NP_056077.2	Q9Y4E1	FA21C_HUMAN	family with sequence similarity 21, member C	746					retrograde transport, endosome to Golgi (GO:0042147)	early endosome (GO:0005769)|endosome (GO:0005768)|plasma membrane (GO:0005886)|WASH complex (GO:0071203)				central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	28						GAAGGTTGAGAGTGCCAAGGA	0.428																																						ENST00000336378.4																			0				central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	28						c.(2236-2238)Agt>Ggt		family with sequence similarity 21, member C							137	142	140					10																	46272820		1832	4075	5907	SO:0001583	missense	253725							g.chr10:46272820A>G		CCDS44374.1, CCDS44374.2, CCDS53528.1, CCDS53529.1	10q11.22	2014-05-09			ENSG00000172661	ENSG00000172661			23414	protein-coding gene	gene with protein product		613631				20498093	Standard	NM_015262		Approved	Em:AC012044.3, KIAA0592	uc001jcu.3	Q9Y4E1	OTTHUMG00000018089	ENST00000336378.4:c.2236A>G	10.37:g.46272820A>G	ENSP00000337541:p.Ser746Gly					FAM21C_ENST00000540872.1_Missense_Mutation_p.S748G|FAM21C_ENST00000359860.4_Missense_Mutation_p.S690G|FAM21C_ENST00000537517.1_Intron|FAM21C_ENST00000374362.2_Missense_Mutation_p.S748G	p.S746G	NM_015262.2	NP_056077.2	A8K5W5	A8K5W5_HUMAN			22	2354	+			748					B4DZQ6|B9EK53|F5H0J6|F5H871|Q5SQU4|Q5SQU5|Q7L521|Q9UG79	Missense_Mutation	SNP	ENST00000336378.4	37	c.2236A>G		.	.	.	.	.	.	.	.	.	.	A	2.677	-0.276128	0.05679	.	.	ENSG00000172661	ENST00000336378;ENST00000540872;ENST00000374362;ENST00000399588;ENST00000359860;ENST00000436993	.	.	.	2.45	-0.0725	0.13739	.	1.887750	0.02271	N	0.068472	T	0.33847	0.0877	L	0.41027	1.25	0.09310	N	1	B;B	0.13594	0.008;0.008	B;B	0.15870	0.014;0.014	T	0.12091	-1.0561	9	0.34782	T	0.22	-0.7848	4.6983	0.12815	0.6876:0.0:0.3124:0.0	.	748;746	Q9Y4E1-4;Q9Y4E1	.;FA21C_HUMAN	G	746;748;748;748;690;660	.	ENSP00000337541:S746G	S	+	1	0	FAM21C	45592826	0.000000	0.05858	0.001000	0.08648	0.336000	0.28762	0.564000	0.23563	-0.012000	0.14223	0.241000	0.17934	AGT		0.428	FAM21C-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding				8	140	0	0	0	1	0	8	140					G	46272820	A	G	46272820	3	3	305	1	0	0	0	0	1	0	0	0	5542	304	11	4	2328	4	FAM21C	10	46272820	Missense_Mutation	SNP	A	TCGA-KK-A59V-01A-11D-A29Q-08	3184694	46272820	89261927	564	15081											
GDF10	2662	broad.mit.edu	37	chr10	48428868	48428868	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctcctggcccttcttcctgcGgtctttgcgccctggccggg	0	12	12	17	3	2	0	0	0	2	0	4	0	4	0	5	4	2	0	5	4	0	3			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr10:48428868G>A	ENST00000224605.2	-	2	1283	c.1018C>T	c.(1018-1020)Cgc>Tgc	p.R340C		NM_004962.3	NP_004953.1	P55107	BMP3B_HUMAN	growth differentiation factor 10	340					fat cell differentiation (GO:0045444)|growth (GO:0040007)|skeletal system development (GO:0001501)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular space (GO:0005615)	growth factor activity (GO:0008083)	p.R340C(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(20)|skin(1)	31						TTCTTCCTGCGGTCTTTGCGC	0.662																																						ENST00000224605.2																			1	Substitution - Missense(1)	p.R340C(1)	haematopoietic_and_lymphoid_tissue(1)	central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(20)|skin(1)	31						c.(1018-1020)Cgc>Tgc		growth differentiation factor 10							51	47	48					10																	48428868		2203	4300	6503	SO:0001583	missense	2662				growth|skeletal system development|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity	g.chr10:48428868G>A	L42113	CCDS73117.1	10q11.22	2014-04-10			ENSG00000107623	ENSG00000266524		"Endogenous ligands"	4215	protein-coding gene	gene with protein product		601361				8679252	Standard	NM_004962		Approved	BMP-3b	uc001jfb.3	P55107	OTTHUMG00000188319	ENST00000224605.2:c.1018C>T	10.37:g.48428868G>A	ENSP00000224605:p.Arg340Cys						p.R340C	NM_004962.3	NP_004953.1	P55107	BMP3B_HUMAN			2	1283	-			340					Q5VSQ8|Q9UCX6	Missense_Mutation	SNP	ENST00000224605.2	37	c.1018C>T	CCDS7220.1	.	.	.	.	.	.	.	.	.	.	G	16.47	3.133541	0.56828	.	.	ENSG00000107623	ENST00000374247;ENST00000224605	T	0.76448	-1.02	5.3	4.33	0.51752	.	0.439851	0.25890	N	0.027638	D	0.84575	0.5502	M	0.66939	2.045	0.35735	D	0.818225	D;D	0.89917	0.999;1.0	P;D	0.64687	0.759;0.928	D	0.88597	0.3147	10	0.87932	D	0	.	12.3603	0.55199	0.0:0.0:0.7419:0.2581	.	150;340	Q8N6T2;P55107	.;BMP3B_HUMAN	C	150;340	ENSP00000224605:R340C	ENSP00000224605:R340C	R	-	1	0	GDF10	48048874	0.998000	0.40836	0.657000	0.29651	0.892000	0.51952	2.055000	0.41345	2.653000	0.90120	0.561000	0.74099	CGC		0.662	GDF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047884.1	NM_004962		23	37	0	0	0	1	0	23	37					A	48428868	G	A	48428868	3	1	305	1	0	0	0	0	1	0	0	0	6311	1116	39	2	426	2	GDF10	10	48428868	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	2156048	48428868	87105879	565	15082											
AIFM2	84883	broad.mit.edu	37	chr10	71883673	71883673	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agcacattacctgtctccacGgaggctcggagagcagccac	10	6	11	14	2	1	1	0	0	1	1	3	3	1	2	3	3	4	3	3	3	1	1			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr10:71883673G>A	ENST00000307864.1	-	2	381	c.168C>T	c.(166-168)tcC>tcT	p.S56S	AIFM2_ENST00000373248.1_Silent_p.S56S	NM_001198696.1|NM_032797.5	NP_001185625.1|NP_116186.1	Q9BRQ8	AIFM2_HUMAN	apoptosis-inducing factor, mitochondrion-associated, 2	56					apoptotic mitochondrial changes (GO:0008637)|positive regulation of apoptotic process (GO:0043065)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|lipid particle (GO:0005811)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	DNA binding (GO:0003677)|electron-transferring-flavoprotein dehydrogenase activity (GO:0004174)|flavin adenine dinucleotide binding (GO:0050660)|NADH dehydrogenase (ubiquinone) activity (GO:0008137)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)|skin(2)|urinary_tract(2)	16						CTGTCTCCACGGAGGCTCGGA	0.602																																						ENST00000307864.1																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)|skin(2)|urinary_tract(2)	16						c.(166-168)tcC>tcT		apoptosis-inducing factor, mitochondrion-associated, 2							38	35	36					10																	71883673		2203	4300	6503	SO:0001819	synonymous_variant	84883				apoptotic mitochondrial changes|chromosome condensation|induction of apoptosis	cytosol|integral to membrane|mitochondrial outer membrane	DNA binding|electron-transferring-flavoprotein dehydrogenase activity|flavin adenine dinucleotide binding	g.chr10:71883673G>A	AK027403	CCDS7297.1	10q22.2	2006-11-16	2006-11-16	2006-11-16	ENSG00000042286	ENSG00000042286			21411	protein-coding gene	gene with protein product		605159	"apoptosis-inducing factor (AIF)-like mitochondrion-associated inducer of death"	AMID		12135761, 11980907, 15958387	Standard	NM_001198696		Approved	FLJ14497, PRG3	uc001jqp.2	Q9BRQ8	OTTHUMG00000018398	ENST00000307864.1:c.168C>T	10.37:g.71883673G>A						AIFM2_ENST00000373248.1_Silent_p.S56S	p.S56S	NM_001198696.1|NM_032797.5	NP_001185625.1|NP_116186.1	Q9BRQ8	AIFM2_HUMAN			2	381	-			56					B3KXI0|Q63Z39	Silent	SNP	ENST00000307864.1	37	c.168C>T	CCDS7297.1																																																																																				0.602	AIFM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048487.1	NM_032797		9	24	0	0	0	1	0	9	24					A	71883673	G	A	71883673	2	1	305	1	0	0	0	0	0	0	0	1	427	1103	39	2		2	AIFM2	10	71883673	Silent	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	23454805	71883673	63651074	566	15083											
ADAMTS14	140766	broad.mit.edu	37	chr10	72462205	72462205	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggagtgggcagaacctgaCggggacctgcacaatgaagg	12	4	16	9	1	0	3	0	2	0	1	0	5	0	5	2	5	2	2	2	5	3	0			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr10:72462205C>T	ENST00000373207.1	+	3	660	c.660C>T	c.(658-660)gaC>gaT	p.D220D	ADAMTS14_ENST00000373208.1_Silent_p.D220D	NM_080722.3	NP_542453.2	Q8WXS8	ATS14_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 14	220					collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(15)|ovary(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						CAGAACCTGACGGGGACCTGC	0.617																																						ENST00000373208.1																			0				NS(1)|autonomic_ganglia(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(15)|ovary(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						c.(658-660)gaC>gaT		ADAM metallopeptidase with thrombospondin type 1 motif, 14							60	61	61					10																	72462205		2203	4300	6503	SO:0001819	synonymous_variant	140766				collagen catabolic process|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr10:72462205C>T	AF358666	CCDS7306.1, CCDS7307.1	10q21	2008-08-01	2005-08-19		ENSG00000138316	ENSG00000138316		"ADAM metallopeptidases with thrombospondin type 1 motif"	14899	protein-coding gene	gene with protein product		607506	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 14"			11779638	Standard	NM_139155		Approved		uc001jrg.3	Q8WXS8	OTTHUMG00000018414	ENST00000373207.1:c.660C>T	10.37:g.72462205C>T						ADAMTS14_ENST00000373207.1_Silent_p.D220D	p.D220D	NM_139155.2	NP_631894.2	Q8WXS8	ATS14_HUMAN			3	660	+			220					Q5T4G0|Q5T4G1|Q8TE55|Q8TEY8	Silent	SNP	ENST00000373207.1	37	c.660C>T	CCDS7306.1																																																																																				0.617	ADAMTS14-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000048522.1	NM_080722		4	65	0	0	0	1	0	4	65					T	72462205	C	T	72462205	2	4	305	1	0	0	0	0	0	0	0	1	259	535	19	1		1	ADAMTS14	10	72462205	Silent	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	578532	72462205	63072542	567	15084											
CDH23	5660	broad.mit.edu	37	chr10	73575024	73575024	+	IGR	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggagacccccctggagatcAcagagctgtgactagacagg	11	6	13	11	0	1	5	1	1	0	4	1	7	1	5	3	3	1	1	3	3	1	1			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr10:73575024A>T	ENST00000394936.3	-	0	2866				CDH23_ENST00000398788.3_Missense_Mutation_p.T1112S|CDH23_ENST00000224721.6_Missense_Mutation_p.T3357S|CDH23_ENST00000475158.1_3'UTR			P07602	SAP_HUMAN	prosaposin						blood coagulation (GO:0007596)|cellular response to organic substance (GO:0071310)|epithelial cell differentiation involved in prostate gland development (GO:0060742)|glycosphingolipid metabolic process (GO:0006687)|lipid transport (GO:0006869)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of catalytic activity (GO:0043085)|prostate gland growth (GO:0060736)|regulation of lipid metabolic process (GO:0019216)|regulation of MAPK cascade (GO:0043408)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal lumen (GO:0043202)|lysosomal membrane (GO:0005765)|mitochondrion (GO:0005739)	enzyme activator activity (GO:0008047)|lipid binding (GO:0008289)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	13						CCTGGAGATCACAGAGCTGTG	0.647																																						ENST00000224721.6																			0				NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						c.(10069-10071)Aca>Tca		cadherin-related 23							19	22	21					10																	73575024		1995	4107	6102	SO:0001628	intergenic_variant	64072				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding	g.chr10:73575024A>T	BC004275	CCDS7311.1	10q21-q22	2014-01-30	2008-07-31		ENSG00000197746	ENSG00000197746		"Endogenous ligands"	9498	protein-coding gene	gene with protein product	"variant Gaucher disease and variant metachromatic leukodystrophy"	176801	"sphingolipid activator protein-1"	SAP1, GLBA		2717620	Standard	NM_001042465		Approved		uc001jsm.3	P07602	OTTHUMG00000018429		10.37:g.73575024A>T						CDH23_ENST00000475158.1_3'UTR|CDH23_ENST00000398788.3_Missense_Mutation_p.T1112S	p.T3357S	NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN			69	10074	+			3352					P07292|P15793|P78538|P78541|P78546|P78547|P78558|Q53Y86|Q6IBQ6|Q92739|Q92740|Q92741|Q92742	Missense_Mutation	SNP	ENST00000394936.3	37	c.10069A>T	CCDS7311.1	.	.	.	.	.	.	.	.	.	.	A	33	5.194746	0.94960	.	.	ENSG00000107736	ENST00000398860;ENST00000398855;ENST00000224721;ENST00000398788	T	0.65364	-0.15	5.42	5.42	0.78866	.	0.000000	0.85682	D	0.000000	T	0.73567	0.3603	L	0.47716	1.5	0.58432	D	0.999999	D;D;D;D	0.69078	0.997;0.99;0.997;0.997	D;D;D;D	0.72982	0.921;0.979;0.97;0.97	T	0.76490	-0.2940	10	0.87932	D	0	.	15.4614	0.75359	1.0:0.0:0.0:0.0	.	214;249;3317;3352	Q5QGS5;Q5QGS6;E9PEX1;Q9H251	.;.;.;CAD23_HUMAN	S	3357;3317;3355;1112	ENSP00000381768:T1112S	ENSP00000224721:T3357S	T	+	1	0	CDH23	73245030	1.000000	0.71417	0.998000	0.56505	0.991000	0.79684	8.580000	0.90784	2.065000	0.61736	0.533000	0.62120	ACA		0.647	PSAP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000048553.1	NM_002778		8	11	0	0	0	1	0	8	11					T	73575024	A	T	73575024	1	4	305	0	1	0	0	0	0	0	0	0	3108	159	6	5		5	CDH23	10	73575024	IGR	SNP	A	TCGA-KK-A59V-01A-11D-A29Q-08	1112819	73575024	61959723	568	15085											
KCNMA1	3778	broad.mit.edu	37	chr10	78647236	78647236	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagatcaggtccgtcggcaCgagctcaaactcatagggcg	11	6	13	11	4	3	1	3	0	0	1	5	3	4	1	1	3	2	2	1	3	3	1	rs376264061		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr10:78647236C>T	ENST00000286628.8	-	28	3498	c.3499G>A	c.(3499-3501)Gtg>Atg	p.V1167M	RP11-443A13.5_ENST00000458661.2_RNA|KCNMA1_ENST00000354353.5_Missense_Mutation_p.V1170M|KCNMA1_ENST00000372440.1_Missense_Mutation_p.V1109M|KCNMA1_ENST00000372443.1_Missense_Mutation_p.V1136M|RP11-443A13.5_ENST00000609102.1_RNA|KCNMA1_ENST00000404771.3_Missense_Mutation_p.V1167M|KCNMA1_ENST00000404857.1_Missense_Mutation_p.V1150M|RP11-443A13.5_ENST00000595702.1_RNA|RP11-443A13.5_ENST00000429850.2_RNA|KCNMA1_ENST00000286627.5_Missense_Mutation_p.V1109M|KCNMA1_ENST00000406533.3_Missense_Mutation_p.V1171M	NM_001161352.1	NP_001154824.1	Q12791	KCMA1_HUMAN	potassium large conductance calcium-activated channel, subfamily M, alpha member 1	1167					blood coagulation (GO:0007596)|cellular potassium ion homeostasis (GO:0030007)|micturition (GO:0060073)|negative regulation of cell volume (GO:0045794)|positive regulation of apoptotic process (GO:0043065)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|response to calcium ion (GO:0051592)|response to carbon monoxide (GO:0034465)|response to hypoxia (GO:0001666)|response to osmotic stress (GO:0006970)|smooth muscle contraction involved in micturition (GO:0060083)|synaptic transmission (GO:0007268)	apical plasma membrane (GO:0016324)|caveola (GO:0005901)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	actin binding (GO:0003779)|calcium-activated potassium channel activity (GO:0015269)|large conductance calcium-activated potassium channel activity (GO:0060072)|metal ion binding (GO:0046872)|voltage-gated potassium channel activity (GO:0005249)	p.V1109L(1)|p.V1171L(1)		breast(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(17)|lung(23)|ovary(2)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	68	all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198)		OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183)		Bendroflumethiazide(DB00436)|Chlorzoxazone(DB00356)|Cromoglicic acid(DB01003)|Diazoxide(DB01119)|Halothane(DB01159)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Miconazole(DB01110)|Procaine(DB00721)	TCCGTCGGCACGAGCTCAAAC	0.547																																						ENST00000286627.5																			2	Substitution - Missense(2)	p.V1109L(1)|p.V1171L(1)	lung(2)	breast(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(17)|lung(23)|ovary(2)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	68						c.(3325-3327)Gtg>Atg		potassium large conductance calcium-activated channel, subfamily M, alpha member 1	Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Chlorzoxazone(DB00356)|Cromoglicate(DB01003)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Enflurane(DB00228)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021)	C	MET/VAL,MET/VAL,MET/VAL,MET/VAL	1,4405	2.1+/-5.4	0,1,2202	74	66	69		3337,3499,3448,3325	4.4	1	10		69	0,8600		0,0,4300	no	missense,missense,missense,missense	KCNMA1	NM_001014797.2,NM_001161352.1,NM_001161353.1,NM_002247.3	21,21,21,21	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign,benign,benign,benign	1113/1183,1167/1237,1150/1220,1109/1179	78647236	1,13005	2203	4300	6503	SO:0001583	missense	3778				cellular potassium ion homeostasis|negative regulation of cell volume|platelet activation|positive regulation of apoptosis|regulation of membrane potential|response to calcium ion|response to carbon monoxide|response to hypoxia|response to osmotic stress|smooth muscle contraction involved in micturition	apical plasma membrane|caveola|integral to membrane|voltage-gated potassium channel complex	actin binding|calcium-activated potassium channel activity|large conductance calcium-activated potassium channel activity|metal ion binding|voltage-gated potassium channel activity	g.chr10:78647236C>T	U11717	CCDS7352.1, CCDS60569.1, CCDS60571.1, CCDS60572.1, CCDS73156.1	10q22	2012-07-05			ENSG00000156113	ENSG00000156113		"Potassium channels", "Voltage-gated ion channels / Potassium channels, calcium-activated"	6284	protein-coding gene	gene with protein product	"BK channel alpha subunit"	600150		SLO		7987297, 16382103	Standard	NM_002247		Approved	KCa1.1, mSLO1	uc001jxn.3	Q12791	OTTHUMG00000018543	ENST00000286628.8:c.3499G>A	10.37:g.78647236C>T	ENSP00000286628:p.Val1167Met					KCNMA1_ENST00000404857.1_Missense_Mutation_p.V1150M|KCNMA1_ENST00000372440.1_Missense_Mutation_p.V1109M|KCNMA1_ENST00000404771.3_Missense_Mutation_p.V1167M|KCNMA1_ENST00000406533.3_Missense_Mutation_p.V1171M|KCNMA1_ENST00000286628.8_Missense_Mutation_p.V1167M|KCNMA1_ENST00000354353.5_Missense_Mutation_p.V1170M|KCNMA1_ENST00000372443.1_Missense_Mutation_p.V1136M	p.V1109M	NM_002247.3	NP_002238.2	Q12791	KCMA1_HUMAN	OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183)		27	4277	-	all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198)		1167					F8WA96|Q12886|Q12917|Q12921|Q12960|Q13150|Q5JQ23|Q5SQR9|Q96LG8|Q9UBB0|Q9UCX0|Q9UQK6	Missense_Mutation	SNP	ENST00000286628.8	37	c.3325G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.05|16.05	3.013173|3.013173	0.54468|0.54468	2.27E-4|2.27E-4	0.0|0.0	ENSG00000156113|ENSG00000156113	ENST00000372421;ENST00000434208|ENST00000372440;ENST00000372408;ENST00000372437;ENST00000457953;ENST00000404771;ENST00000372443;ENST00000286627;ENST00000286628;ENST00000406533;ENST00000354353;ENST00000404857;ENST00000412708	.|D;D;D;D;D;D;D;D;D	.|0.84660	.|-1.86;-1.88;-1.84;-1.85;-1.87;-1.86;-1.85;-1.86;-1.86	5.3|5.3	4.36|4.36	0.52297|0.52297	.|.	.|0.058045	.|0.64402	.|D	.|0.000002	D|D	0.84160|0.84160	0.5411|0.5411	N|N	0.25647|0.25647	0.755|0.755	0.58432|0.58432	D|D	0.999995|0.999995	.|D;B;B;B;B;B;B;B	.|0.63046	.|0.992;0.148;0.194;0.07;0.385;0.016;0.33;0.092	.|P;B;B;B;B;B;B;B	.|0.54664	.|0.758;0.03;0.027;0.019;0.066;0.004;0.04;0.03	D|D	0.85588|0.85588	0.1244|0.1244	5|10	.|0.51188	.|T	.|0.08	-11.6894|-11.6894	15.9351|15.9351	0.79698|0.79698	0.0:0.865:0.1349:0.0|0.0:0.865:0.1349:0.0	.|.	.|1138;1139;1150;1167;1109;920;1170;1136	.|Q12791-4;B7ZMF5;Q12791-2;Q12791;Q12791-5;C9JFZ9;F8WA96;Q5SVJ7	.|.;.;.;KCMA1_HUMAN;.;.;.;.	H|M	1097;816|1109;1046;1102;1141;1104;1136;1109;1141;1171;1170;1150;920	.|ENSP00000361517:V1109M;ENSP00000361485:V1046M;ENSP00000361514:V1102M;ENSP00000396608:V1141M;ENSP00000361520:V1136M;ENSP00000286627:V1109M;ENSP00000385552:V1171M;ENSP00000346321:V1170M;ENSP00000385806:V1150M	.|ENSP00000286627:V1109M	R|V	-|-	2|1	0|0	KCNMA1|KCNMA1	78317242|78317242	1.000000|1.000000	0.71417|0.71417	0.996000|0.996000	0.52242|0.52242	0.933000|0.933000	0.57130|0.57130	4.672000|4.672000	0.61597|0.61597	2.484000|2.484000	0.83849|0.83849	0.460000|0.460000	0.39030|0.39030	CGT|GTG		0.547	KCNMA1-009	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000048885.3	NM_002247		24	55	0	0	0	1	0	24	55					T	78647236	C	T	78647236	3	4	305	1	0	0	0	0	1	0	0	0	8073	536	19	1	244	1	KCNMA1	10	78647236	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	5072212	78647236	56887511	569	15086											
NRG3	10718	broad.mit.edu	37	chr10	83635352	83635352	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tggggctcagcctcatgcttCtcaaatggatcgtggtgggc	6	11	14	10	1	3	0	3	0	1	0	5	1	3	1	1	5	2	2	1	5	1	1			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr10:83635352C>T	ENST00000404547.1	+	1	256	c.256C>T	c.(256-258)Ctc>Ttc	p.L86F	NRG3_ENST00000404576.2_5'Flank|NRG3_ENST00000556918.1_5'Flank|NRG3_ENST00000372141.2_Missense_Mutation_p.L86F|NRG3_ENST00000372142.2_5'Flank			P56975	NRG3_HUMAN	neuregulin 3	86					activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|intracellular signal transduction (GO:0035556)|mammary placode formation (GO:0060596)|pattern specification process (GO:0007389)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	growth factor activity (GO:0008083)|receptor tyrosine kinase binding (GO:0030971)|transmembrane receptor protein tyrosine kinase activator activity (GO:0030297)			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(41)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	69				GBM - Glioblastoma multiforme(1;2.5e-18)|all cancers(1;2.85e-09)		CCTCATGCTTCTCAAATGGAT	0.612																																						ENST00000404547.1																			0				breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(41)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						c.(256-258)Ctc>Ttc		neuregulin 3							79	64	69					10																	83635352		2203	4300	6503	SO:0001583	missense	10718				regulation of cell growth	extracellular region|integral to plasma membrane	growth factor activity|receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity	g.chr10:83635352C>T	AK098823	CCDS31233.1, CCDS53547.1	10q22-q23	2003-09-09			ENSG00000185737	ENSG00000185737			7999	protein-coding gene	gene with protein product		605533				9275162	Standard	NM_001010848		Approved		uc001kco.2	P56975	OTTHUMG00000018626	ENST00000404547.1:c.256C>T	10.37:g.83635352C>T	ENSP00000384796:p.Leu86Phe					NRG3_ENST00000372141.2_Missense_Mutation_p.L86F	p.L86F			P56975	NRG3_HUMAN		GBM - Glioblastoma multiforme(1;2.5e-18)|all cancers(1;2.85e-09)	1	256	+			86					A4D7U1|Q0PEH2|Q5VYH3	Missense_Mutation	SNP	ENST00000404547.1	37	c.256C>T	CCDS31233.1	.	.	.	.	.	.	.	.	.	.	c	17.20	3.328387	0.60743	.	.	ENSG00000185737	ENST00000372141;ENST00000404547;ENST00000537287	T;T	0.65364	-0.15;-0.02	2.75	2.75	0.32379	.	.	.	.	.	T	0.63570	0.2522	L	0.29908	0.895	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.80764	0.994;0.994	T	0.64529	-0.6386	9	0.87932	D	0	-10.1184	5.7409	0.18094	0.0:0.846:0.0:0.154	.	86;86	B9EGV5;P56975-4	.;.	F	86	ENSP00000361214:L86F;ENSP00000384796:L86F	ENSP00000361214:L86F	L	+	1	0	NRG3	83625332	1.000000	0.71417	0.997000	0.53966	0.990000	0.78478	4.696000	0.61774	1.560000	0.49568	0.459000	0.35465	CTC		0.612	NRG3-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000412262.1	XM_166086		17	42	0	0	0	1	0	17	42					T	83635352	C	T	83635352	3	4	305	1	0	0	0	0	1	0	0	0	10649	913	32	3	258	3	NRG3	10	83635352	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	4988116	83635352	51899395	570	15087											
RGR	5995	broad.mit.edu	37	chr10	86007450	86007450	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtgctgagcttggctcttgcGgacagtgggatcagcctgaa	7	10	15	9	1	2	2	1	2	1	0	2	4	2	4	1	3	4	3	1	3	1	2	rs184408533		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr10:86007450G>A	ENST00000372092.3	+	2	138	c.133G>A	c.(133-135)Gga>Aga	p.G45R	RGR_ENST00000359452.4_Silent_p.A61A|RGR_ENST00000358110.5_Silent_p.A61A			P47804	RGR_HUMAN	retinal G protein coupled receptor	0					chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|phototransduction (GO:0007602)|protein-chromophore linkage (GO:0018298)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)	chemokine receptor activity (GO:0004950)|G-protein coupled receptor activity (GO:0004930)|photoreceptor activity (GO:0009881)			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|stomach(1)	17						TGGCTCTTGCGGACAGTGGGA	0.627													G|||	1	0.000199681	0	0	5008	,	,		17887	0.001		0	False		,,,				2504	0				NSCLC(15;204 545 5889 6385 32445)	ENST00000372092.3																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|stomach(1)	17						c.(133-135)Gga>Aga		retinal G protein coupled receptor							121	110	114					10																	86007450		2203	4300	6503	SO:0001583	missense	5995				phototransduction|protein-chromophore linkage|visual perception	integral to plasma membrane	G-protein coupled receptor activity|photoreceptor activity|protein binding	g.chr10:86007450G>A	BC011349	CCDS7374.1, CCDS41543.1	10q23	2013-02-14			ENSG00000148604	ENSG00000148604		"GPCR / Class A : Opsin receptors"	9990	protein-coding gene	gene with protein product	"RGR-opsin"	600342				8641686	Standard	NM_002921		Approved	RP44	uc001kdd.1	P47804	OTTHUMG00000018636	ENST00000372092.3:c.133G>A	10.37:g.86007450G>A	ENSP00000361164:p.Gly45Arg					RGR_ENST00000359452.4_Silent_p.A61A|RGR_ENST00000358110.5_Silent_p.A61A	p.G45R			P47804	RGR_HUMAN			2	138	+			0					A6NKK7|Q96FC5	Missense_Mutation	SNP	ENST00000372092.3	37	c.133G>A		2	9.157509157509158E-4	0	0.0	0	0.0	2	0.0034965034965034965	0	0.0	G	13.32	2.200517	0.38905	.	.	ENSG00000148604	ENST00000372092	.	.	.	4.17	-8.34	0.00988	.	.	.	.	.	T	0.46678	0.1405	.	.	.	0.80722	D	1	B	0.10296	0.003	B	0.09377	0.004	T	0.07809	-1.0753	7	0.87932	D	0	.	9.8656	0.41140	0.4509:0.4371:0.112:0.0	.	45	Q96HT6	.	R	45	.	ENSP00000361164:G45R	G	+	1	0	RGR	85997430	0.000000	0.05858	0.479000	0.27329	0.993000	0.82548	-3.362000	0.00497	-1.685000	0.01441	0.467000	0.42956	GGA		0.627	RGR-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000049117.1	NM_002921		37	127	0	0	0	1	0	37	127					A	86007450	G	A	86007450	3	1	305	1	0	0	0	0	1	0	0	0	13291	1103	39	2	189	2	RGR	10	86007450	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	2372098	86007450	49527297	571	15088											
ATAD1	84896	broad.mit.edu	37	chr10	89550131	89550132	+	Frame_Shift_Del	DEL	TG	TG	-																															tttttgataggtaagatgacTgtgtctttcagatccgtaat																										TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr10:89550131_89550132delTG	ENST00000308448.7	-	4	695_696	c.317_318delCA	c.(316-318)acafs	p.T106fs	ATAD1_ENST00000541004.1_Frame_Shift_Del_p.T106fs|ATAD1_ENST00000400215.3_Frame_Shift_Del_p.T48fs|ATAD1_ENST00000328142.3_Frame_Shift_Del_p.T106fs|ATAD1_ENST00000495903.1_5'UTR	NM_032810.2	NP_116199.2	Q8NBU5	ATAD1_HUMAN	ATPase family, AAA domain containing 1	106					ATP catabolic process (GO:0006200)|learning (GO:0007612)|memory (GO:0007613)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|positive regulation of receptor internalization (GO:0002092)	cell junction (GO:0030054)|membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisomal membrane (GO:0005778)|postsynaptic membrane (GO:0045211)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			kidney(1)|large_intestine(4)|lung(4)|ovary(1)	10		all_cancers(4;6.78e-12)|Prostate(4;3.56e-12)|all_epithelial(4;5.58e-09)|Melanoma(5;0.0273)|Breast(4;0.0424)|all_hematologic(4;0.0846)|Colorectal(252;0.207)|Glioma(4;0.217)|all_neural(4;0.224)		UCEC - Uterine corpus endometrioid carcinoma (6;0.00131)|GBM - Glioblastoma multiforme(1;1.1e-32)|Lung(2;1.4e-05)|LUSC - Lung squamous cell carcinoma(2;2.69e-05)|Colorectal(12;7.09e-05)|COAD - Colon adenocarcinoma(12;0.000261)|STAD - Stomach adenocarcinoma(243;0.235)		GTAAGATGACTGTGTCTTTCAG	0.361																																						ENST00000308448.7																			0				kidney(1)|large_intestine(4)|lung(4)|ovary(1)	10						c.(316-318)afs		ATPase family, AAA domain containing 1																																				SO:0001589	frameshift_variant	84896					peroxisome	ATP binding|nucleoside-triphosphatase activity	g.chr10:89550131_89550132delTG	AL834370	CCDS7386.1	10q23.31	2010-04-21		2007-02-08	ENSG00000138138	ENSG00000138138		"ATPases / AAA-type"	25903	protein-coding gene	gene with protein product		614452				12477932	Standard	NM_032810		Approved	FLJ14600	uc001kez.1	Q8NBU5	OTTHUMG00000018685	ENST00000308448.7:c.317_318delCA	10.37:g.89550133_89550134delTG	ENSP00000339017:p.Thr106fs					ATAD1_ENST00000541004.1_Frame_Shift_Del_p.T106fs|ATAD1_ENST00000400215.3_Frame_Shift_Del_p.T48fs|ATAD1_ENST00000328142.3_Frame_Shift_Del_p.T106fs|ATAD1_ENST00000495903.1_5'UTR	p.T106fs	NM_032810.2	NP_116199.2	Q8NBU5	ATAD1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (6;0.00131)|GBM - Glioblastoma multiforme(1;1.1e-32)|Lung(2;1.4e-05)|LUSC - Lung squamous cell carcinoma(2;2.69e-05)|Colorectal(12;7.09e-05)|COAD - Colon adenocarcinoma(12;0.000261)|STAD - Stomach adenocarcinoma(243;0.235)	4	695_696	-		all_cancers(4;6.78e-12)|Prostate(4;3.56e-12)|all_epithelial(4;5.58e-09)|Melanoma(5;0.0273)|Breast(4;0.0424)|all_hematologic(4;0.0846)|Colorectal(252;0.207)|Glioma(4;0.217)|all_neural(4;0.224)	106					D3DR26|Q6DKG1|Q6P4B9|Q8N3G1|Q8WYR9|Q969Y3	Frame_Shift_Del	DEL	ENST00000308448.7	37	c.317_318delCA	CCDS7386.1																																																																																				0.361	ATAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049235.1	NM_032810		18	44						18	44	---	---	---	---	-	89550132	TG	-	89550131	7	5	305	1	0	1	0	1	0	0	0	0	1070	1567	55	0	795	0	ATAD1	10	89550131	Frame_Shift_Del	DEL	TG	TCGA-KK-A59V-01A-11D-A29Q-08	3542681	89550131	45984616	572	15089											
MYOF	26509	broad.mit.edu	37	chr10	95115421	95115421	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aacaatgggggtgtttgctcCgaacacagtggtggcactgt	9	10	14	8	1	0	0	0	0	0	0	1	1	1	0	1	4	3	3	1	4	3	1			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr10:95115421C>T	ENST00000359263.4	-	31	3366	c.3367G>A	c.(3367-3369)Gga>Aga	p.G1123R	MYOF_ENST00000371501.4_Missense_Mutation_p.G1123R|MYOF_ENST00000358334.5_Missense_Mutation_p.G1110R|MYOF_ENST00000371502.4_Missense_Mutation_p.G1123R	NM_013451.3	NP_038479.1	Q9NZM1	MYOF_HUMAN	myoferlin	1123					blood circulation (GO:0008015)|cellular response to heat (GO:0034605)|muscle contraction (GO:0006936)|plasma membrane repair (GO:0001778)|regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030947)	caveola (GO:0005901)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)	phospholipid binding (GO:0005543)			NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						GTGTTTGCTCCGAACACAGTG	0.408																																						ENST00000371501.4																			0				NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						c.(3367-3369)Gga>Aga		myoferlin							180	173	175					10																	95115421		1860	4096	5956	SO:0001583	missense	26509				blood circulation|muscle contraction|plasma membrane repair	caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane	phospholipid binding|protein binding	g.chr10:95115421C>T	AB033033	CCDS41550.1, CCDS41551.1	10q24	2014-06-27	2008-11-26	2008-11-26	ENSG00000138119	ENSG00000138119			3656	protein-coding gene	gene with protein product	"fer-1-like family member 3"	604603	"fer-1 (C.elegans)-like 3 (myoferlin)", "fer-1-like 3, myoferlin (C. elegans)"	FER1L3		10607832, 10995573, 17702744	Standard	NM_013451		Approved	KIAA1207	uc001kin.3	Q9NZM1	OTTHUMG00000018772	ENST00000359263.4:c.3367G>A	10.37:g.95115421C>T	ENSP00000352208:p.Gly1123Arg					MYOF_ENST00000371502.4_Missense_Mutation_p.G1123R|MYOF_ENST00000359263.4_Missense_Mutation_p.G1123R|MYOF_ENST00000358334.5_Missense_Mutation_p.G1110R	p.G1123R			Q9NZM1	MYOF_HUMAN			31	3489	-			1123					B3KQN5|Q5VWW2|Q5VWW3|Q5VWW4|Q5VWW5|Q7Z642|Q8IWH0|Q9HBU3|Q9NZM0|Q9ULL3|Q9Y4U4	Missense_Mutation	SNP	ENST00000359263.4	37	c.3367G>A	CCDS41551.1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.438150	0.83885	.	.	ENSG00000138119	ENST00000358334;ENST00000359263;ENST00000371501;ENST00000371502	D;D;D;D	0.83591	-1.74;-1.74;-1.73;-1.73	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	D	0.88310	0.6402	L	0.52126	1.63	0.80722	D	1	D;D	0.69078	0.997;0.994	P;P	0.60012	0.867;0.569	D	0.87747	0.2589	10	0.56958	D	0.05	-20.2234	20.3437	0.98782	0.0:1.0:0.0:0.0	.	1110;1123	Q9NZM1-6;Q9NZM1	.;MYOF_HUMAN	R	1110;1123;1123;1123	ENSP00000351094:G1110R;ENSP00000352208:G1123R;ENSP00000360556:G1123R;ENSP00000360557:G1123R	ENSP00000351094:G1110R	G	-	1	0	MYOF	95105411	1.000000	0.71417	0.991000	0.47740	0.771000	0.43674	7.412000	0.80091	2.815000	0.96918	0.561000	0.74099	GGA		0.408	MYOF-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000049423.2	NM_013451		6	246	0	0	0	1	0	6	246					T	95115421	C	T	95115421	3	4	305	1	0	0	0	0	1	0	0	0	10089	661	23	2	2914	2	MYOF	10	95115421	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	5565290	95115421	40419326	573	15090											
CYP2C18	1562	broad.mit.edu	37	chr10	96495025	96495025	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtctcttattttcaggaaaaCggatgtgtatgggagagggc	10	12	14	5	1	2	1	1	0	1	1	3	4	2	3	0	4	1	1	0	4	4	4			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr10:96495025C>T	ENST00000285979.6	+	9	1496	c.1297C>T	c.(1297-1299)Cgg>Tgg	p.R433W	CYP2C18_ENST00000339022.5_Missense_Mutation_p.R374W|CYP2C19_ENST00000464755.1_Intron	NM_000772.2	NP_000763.1	P33260	CP2CI_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 18	433					small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxygen binding (GO:0019825)			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	26		Colorectal(252;0.09)		all cancers(201;2.8e-06)|KIRC - Kidney renal clear cell carcinoma(50;0.0646)|Kidney(138;0.0805)	Aminophenazone(DB01424)|Antipyrine(DB01435)|Buprenorphine(DB00921)|Clobazam(DB00349)|Clotiazepam(DB01559)|Cyclophosphamide(DB00531)|Dapsone(DB00250)|Desipramine(DB01151)|Diazepam(DB00829)|Diclofenac(DB00586)|Diphenhydramine(DB01075)|Ifosfamide(DB01181)|Imipramine(DB00458)|Lansoprazole(DB00448)|Lidocaine(DB00281)|Methadone(DB00333)|Omeprazole(DB00338)|Pegvisomant(DB00082)|Perphenazine(DB00850)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Propofol(DB00818)|Tolbutamide(DB01124)|Tretinoin(DB00755)|Troleandomycin(DB01361)|Valproic Acid(DB00313)|Verapamil(DB00661)|Vilazodone(DB06684)|Warfarin(DB00682)	TTCAGGAAAACGGATGTGTAT	0.403																																						ENST00000285979.6																			0				NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	26						c.(1297-1299)Cgg>Tgg		cytochrome P450, family 2, subfamily C, polypeptide 18							88	84	85					10																	96495025		2203	4300	6503	SO:0001583	missense	1562							g.chr10:96495025C>T	M61853	CCDS7435.1, CCDS44460.1	10q24	2003-11-12	2003-01-14		ENSG00000108242	ENSG00000108242		"Cytochrome P450s"	2620	protein-coding gene	gene with protein product		601131	"cytochrome P450, subfamily IIC (mephenytoin 4-hydroxylase), polypeptide 18"	CYP2C17		1896026, 2009263	Standard	NM_000772		Approved	P450IIC17, CPCI, CYP2C		P33260	OTTHUMG00000018796	ENST00000285979.6:c.1297C>T	10.37:g.96495025C>T	ENSP00000285979:p.Arg433Trp					CYP2C18_ENST00000339022.5_Missense_Mutation_p.R374W|CYP2C19_ENST00000464755.1_Intron	p.R433W	NM_000772.2	NP_000763.1				all cancers(201;2.8e-06)|KIRC - Kidney renal clear cell carcinoma(50;0.0646)|Kidney(138;0.0805)	9	1496	+		Colorectal(252;0.09)						B2R8K2|Q16703|Q16751|Q4VAT5|Q6GRG1	Missense_Mutation	SNP	ENST00000285979.6	37	c.1297C>T	CCDS7435.1	.	.	.	.	.	.	.	.	.	.	c	10.24	1.294719	0.23564	.	.	ENSG00000108242	ENST00000339022;ENST00000285979	D;D	0.84873	-1.91;-1.91	4.09	1.06	0.20224	Cytochrome P450, conserved site (1);	0.074263	0.52532	N	0.000071	D	0.94016	0.8083	H	0.98754	4.32	0.09310	N	0.999998	B;D	0.89917	0.354;1.0	B;D	0.71414	0.115;0.973	D	0.86070	0.1537	10	0.87932	D	0	.	6.5958	0.22672	0.2703:0.6361:0.0:0.0937	.	374;433	Q4VAT5;P33260	.;CP2CI_HUMAN	W	374;433	ENSP00000341293:R374W;ENSP00000285979:R433W	ENSP00000285979:R433W	R	+	1	2	CYP2C18	96485015	0.925000	0.31364	0.125000	0.21846	0.101000	0.19017	0.210000	0.17455	0.015000	0.14971	-0.384000	0.06662	CGG		0.403	CYP2C18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049486.1	NM_000772		18	76	0	0	0	1	0	18	76					T	96495025	C	T	96495025	3	4	305	1	0	0	0	0	1	0	0	0	4165	527	19	1	1331	1	CYP2C18	10	96495025	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	1379604	96495025	39039722	574	15091											
RRP12	23223	broad.mit.edu	37	chr10	99132912	99132912	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	catacaggttgaagaggatcGgcagaaagttcttggcaaag	14	8	13	6	1	1	3	0	1	1	2	2	4	1	4	0	4	1	4	0	4	4	4			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr10:99132912G>A	ENST00000370992.4	-	18	2183	c.2072C>T	c.(2071-2073)cCg>cTg	p.P691L	RRP12_ENST00000479481.1_5'UTR|RRP12_ENST00000414986.1_Missense_Mutation_p.P630L|RRP12_ENST00000315563.6_Missense_Mutation_p.P591L|RRP12_ENST00000536831.1_Missense_Mutation_p.P409L	NM_015179.3	NP_055994.2	Q5JTH9	RRP12_HUMAN	ribosomal RNA processing 12 homolog (S. cerevisiae)	691						integral component of membrane (GO:0016021)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(2)|lung(13)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37		Colorectal(252;0.162)		Epithelial(162;2.72e-09)|all cancers(201;1.76e-07)		GAAGAGGATCGGCAGAAAGTT	0.557																																						ENST00000370992.4																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(2)|lung(13)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37						c.(2071-2073)cCg>cTg		ribosomal RNA processing 12 homolog (S. cerevisiae)							58	60	60					10																	99132912		2203	4300	6503	SO:0001583	missense	23223					integral to membrane|nuclear membrane|nucleolus	protein binding	g.chr10:99132912G>A		CCDS7457.1, CCDS44467.1, CCDS60605.1	10q24.2	2006-11-06	2006-11-06	2006-11-06	ENSG00000052749	ENSG00000052749			29100	protein-coding gene	gene with protein product			"KIAA0690"	KIAA0690		9734811	Standard	NM_015179		Approved		uc001knf.3	Q5JTH9	OTTHUMG00000018855	ENST00000370992.4:c.2072C>T	10.37:g.99132912G>A	ENSP00000360031:p.Pro691Leu					RRP12_ENST00000479481.1_5'UTR|RRP12_ENST00000414986.1_Missense_Mutation_p.P630L|RRP12_ENST00000536831.1_Missense_Mutation_p.P409L|RRP12_ENST00000315563.6_Missense_Mutation_p.P591L	p.P691L	NM_015179.3	NP_055994.2	Q5JTH9	RRP12_HUMAN		Epithelial(162;2.72e-09)|all cancers(201;1.76e-07)	18	2183	-		Colorectal(252;0.162)	691					B4DK00|E9PCK7|Q5JTH8|Q69YK4|Q96E87|Q9BUH3|Q9Y4C7	Missense_Mutation	SNP	ENST00000370992.4	37	c.2072C>T	CCDS7457.1	.	.	.	.	.	.	.	.	.	.	G	19.93	3.917597	0.73098	.	.	ENSG00000052749	ENST00000370992;ENST00000315563;ENST00000414986;ENST00000536831	T;T;T;T	0.68479	-0.33;-0.33;-0.33;-0.33	5.48	5.48	0.80851	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.84051	0.5387	M	0.86178	2.8	0.80722	D	1	D;P;D;D	0.89917	1.0;0.783;1.0;0.999	D;P;D;D	0.74674	0.934;0.454;0.984;0.934	D	0.85269	0.1055	10	0.52906	T	0.07	-11.8855	19.3325	0.94297	0.0:0.0:1.0:0.0	.	630;591;409;691	E9PCK7;Q5JTH9-2;F5H456;Q5JTH9	.;.;.;RRP12_HUMAN	L	691;591;630;409	ENSP00000360031:P691L;ENSP00000324315:P591L;ENSP00000414863:P630L;ENSP00000446184:P409L	ENSP00000324315:P591L	P	-	2	0	RRP12	99122902	1.000000	0.71417	0.987000	0.45799	0.054000	0.15201	9.427000	0.97472	2.571000	0.86741	0.313000	0.20887	CCG		0.557	RRP12-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049699.4	NM_015179		13	48	0	0	0	1	0	13	48					A	99132912	G	A	99132912	3	1	305	1	0	0	0	0	1	0	0	0	13686	1116	39	2	1889	2	RRP12	10	99132912	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	2637887	99132912	36401835	575	15092											
COX15	1355	broad.mit.edu	37	chr10	101486760	101486760	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccacagagggcaagaacacGtcctttcatgccacggctga	11	6	11	13	2	1	3	1	1	0	2	2	3	2	3	3	2	2	2	3	2	2	1	rs371107669		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr10:101486760G>A	ENST00000016171.5	-	4	597	c.547C>T	c.(547-549)Cgt>Tgt	p.R183C	COX15_ENST00000370483.5_Missense_Mutation_p.R183C|CUTC_ENST00000493385.1_Intron			Q7KZN9	COX15_HUMAN	cytochrome c oxidase assembly homolog 15 (yeast)	183					cellular respiration (GO:0045333)|heme a biosynthetic process (GO:0006784)|heme biosynthetic process (GO:0006783)|hydrogen ion transmembrane transport (GO:1902600)|mitochondrial electron transport, cytochrome c to oxygen (GO:0006123)|oxidation-reduction process (GO:0055114)|porphyrin-containing compound metabolic process (GO:0006778)|respiratory chain complex IV assembly (GO:0008535)|respiratory gaseous exchange (GO:0007585)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain (GO:0005746)|mitochondrion (GO:0005739)	cytochrome-c oxidase activity (GO:0004129)|oxidoreductase activity, acting on the CH-CH group of donors (GO:0016627)			endometrium(1)|kidney(1)|large_intestine(4)|liver(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	13		Colorectal(252;0.234)		Epithelial(162;3.08e-10)|all cancers(201;2.43e-08)		GCAAGAACACGTCCTTTCATG	0.517																																						ENST00000370483.5																			0				endometrium(1)|kidney(1)|large_intestine(4)|liver(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	13						c.(547-549)Cgt>Tgt		cytochrome c oxidase assembly homolog 15 (yeast)		G	CYS/ARG,CYS/ARG	0,4406		0,0,2203	76	73	74		547,547	5.2	1	10		74	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	COX15	NM_004376.5,NM_078470.4	180,180	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging	183/389,183/411	101486760	1,13005	2203	4300	6503	SO:0001583	missense	1355				heme a biosynthetic process|respiratory chain complex IV assembly|respiratory gaseous exchange	integral to membrane|mitochondrial respiratory chain	cytochrome-c oxidase activity	g.chr10:101486760G>A	AF044323	CCDS7481.1, CCDS7482.1	10q24	2014-09-17	2012-10-15		ENSG00000014919	ENSG00000014919		"Mitochondrial respiratory chain complex assembly factors"	2263	protein-coding gene	gene with protein product		603646	"COX15 (yeast) homolog, cytochrome c oxidase assembly protein", "COX15 homolog, cytochrome c oxidase assembly protein (yeast)"			9878253	Standard	NM_078470		Approved		uc001kqb.4	Q7KZN9	OTTHUMG00000018893	ENST00000016171.5:c.547C>T	10.37:g.101486760G>A	ENSP00000016171:p.Arg183Cys					COX15_ENST00000016171.5_Missense_Mutation_p.R183C|CUTC_ENST00000493385.1_Intron	p.R183C	NM_004376.5|NM_078470.4	NP_004367.2|NP_510870.1	Q7KZN9	COX15_HUMAN		Epithelial(162;3.08e-10)|all cancers(201;2.43e-08)	4	597	-		Colorectal(252;0.234)	183					A8K6I9|O60556|O75878|Q5TD00|Q5TD01|Q7Z3Q3|Q9NTN0	Missense_Mutation	SNP	ENST00000016171.5	37	c.547C>T	CCDS7482.1	.	.	.	.	.	.	.	.	.	.	G	23.6	4.434117	0.83776	0.0	1.16E-4	ENSG00000014919	ENST00000370483;ENST00000016171	D;D	0.83837	-1.77;-1.77	5.24	5.24	0.73138	.	0.051839	0.85682	D	0.000000	D	0.94165	0.8128	H	0.96111	3.77	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.70487	0.954;0.969	D	0.95730	0.8774	10	0.87932	D	0	-12.4631	19.1851	0.93641	0.0:0.0:1.0:0.0	.	183;183	Q7KZN9-2;Q7KZN9	.;COX15_HUMAN	C	183	ENSP00000359514:R183C;ENSP00000016171:R183C	ENSP00000016171:R183C	R	-	1	0	COX15	101476750	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	3.340000	0.52143	2.608000	0.88229	0.591000	0.81541	CGT		0.517	COX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049818.1	NP_510870		11	51	0	0	0	1	0	11	51					A	101486760	G	A	101486760	3	1	305	1	0	0	0	0	1	0	0	0	3764	1145	40	1	779	1	COX15	10	101486760	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	2353848	101486760	34047987	576	15093											
CPN1	1369	broad.mit.edu	37	chr10	101825108	101825108	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtgcatccaccggatcaccGcccgggtctcgggttccacc	6	7	11	17	4	2	0	1	0	1	0	5	1	4	1	6	3	1	2	6	3	0	1			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr10:101825108G>A	ENST00000370418.3	-	4	847	c.596C>T	c.(595-597)gCg>gTg	p.A199V		NM_001308.2	NP_001299.1	P15169	CBPN_HUMAN	carboxypeptidase N, polypeptide 1	199	Catalytic.				response to glucocorticoid (GO:0051384)	extracellular space (GO:0005615)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	33		Colorectal(252;0.234)		Epithelial(162;4.77e-10)|all cancers(201;3.82e-08)		CCGGATCACCGCCCGGGTCTC	0.577																																						ENST00000370418.3																			0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	33						c.(595-597)gCg>gTg		carboxypeptidase N, polypeptide 1							40	40	40					10																	101825108		2203	4300	6503	SO:0001583	missense	1369				proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding	g.chr10:101825108G>A	X14329	CCDS7486.1	10q24.2	2012-02-10	2007-02-23		ENSG00000120054	ENSG00000120054	3.4.17.3		2312	protein-coding gene	gene with protein product	"anaphylatoxin inactivator", "arginine carboxypeptidase", "carboxypeptidase K", "kininase I", "lysine carboxypeptidase"	603103	"carboxypeptidase N, polypeptide 1, 50kD"			9628828, 2912725	Standard	NM_001308		Approved		uc001kql.2	P15169	OTTHUMG00000018896	ENST00000370418.3:c.596C>T	10.37:g.101825108G>A	ENSP00000359446:p.Ala199Val						p.A199V	NM_001308.2	NP_001299.1	P15169	CBPN_HUMAN		Epithelial(162;4.77e-10)|all cancers(201;3.82e-08)	4	847	-		Colorectal(252;0.234)	199			Catalytic.		B1AP59	Missense_Mutation	SNP	ENST00000370418.3	37	c.596C>T	CCDS7486.1	.	.	.	.	.	.	.	.	.	.	G	28.8	4.952362	0.92660	.	.	ENSG00000120054	ENST00000370418	T	0.16743	2.32	4.62	4.62	0.57501	Peptidase M14, carboxypeptidase A (2);	0.102535	0.64402	D	0.000003	T	0.49864	0.1582	M	0.88377	2.95	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.61078	-0.7135	10	0.72032	D	0.01	-23.412	17.6294	0.88103	0.0:0.0:1.0:0.0	.	199	P15169	CBPN_HUMAN	V	199	ENSP00000359446:A199V	ENSP00000359446:A199V	A	-	2	0	CPN1	101815098	1.000000	0.71417	0.776000	0.31678	0.826000	0.46750	9.465000	0.97660	2.382000	0.81193	0.561000	0.74099	GCG		0.577	CPN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049828.1	NM_001308		13	55	0	0	0	1	0	13	55					A	101825108	G	A	101825108	3	1	305	1	0	0	0	0	1	0	0	0	3809	1087	38	1	804	1	CPN1	10	101825108	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	338348	101825108	33709639	577	15094											
PSD	5662	broad.mit.edu	37	chr10	104176689	104176689	+	Frame_Shift_Del	DEL	G	G	-																															tgctgccatacatgctggctGgggggctctggggcaccggg																										TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr10:104176689delG	ENST00000020673.5	-	2	633	c.107delC	c.(106-108)ccafs	p.P36fs	FBXL15_ENST00000224862.3_5'Flank|FBXL15_ENST00000369956.2_5'Flank|PSD_ENST00000406432.1_Frame_Shift_Del_p.P36fs|PSD_ENST00000492902.2_5'UTR	NM_001270966.1|NM_002779.4	NP_001257895.1|NP_002770.3	A5PKW4	PSD1_HUMAN	pleckstrin and Sec7 domain containing	36	Pro-rich.				neuron differentiation (GO:0030182)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cell projection (GO:0042995)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|phospholipid binding (GO:0005543)|signal transducer activity (GO:0004871)			breast(4)|endometrium(2)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				Epithelial(162;1.27e-08)|all cancers(201;2.85e-07)		CATGCTGGCTGGGGGGCTCTG	0.677																																						ENST00000020673.5																			0				breast(4)|endometrium(2)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						c.(106-108)cafs		pleckstrin and Sec7 domain containing							23	24	24					10																	104176689		2157	4263	6420	SO:0001589	frameshift_variant	5662				regulation of ARF protein signal transduction	cytoplasm|plasma membrane|ruffle	ARF guanyl-nucleotide exchange factor activity|signal transducer activity	g.chr10:104176689delG	X99688	CCDS31272.1, CCDS73187.1	10q24	2013-01-10	2004-04-28		ENSG00000059915	ENSG00000059915		"Pleckstrin homology (PH) domain containing"	9507	protein-coding gene	gene with protein product		602327	"pleckstrin and Sec7 domain protein"			9417912	Standard	NM_002779		Approved	KIAA2011, TYL, PSD1	uc009xxd.2	A5PKW4	OTTHUMG00000018954	ENST00000020673.5:c.107delC	10.37:g.104176689delG	ENSP00000020673:p.Pro36fs					PSD_ENST00000492902.2_5'UTR|PSD_ENST00000406432.1_Frame_Shift_Del_p.P36fs	p.P36fs	NM_001270966.1|NM_002779.3	NP_001257895.1|NP_002770.3	A5PKW4	PSD1_HUMAN		Epithelial(162;1.27e-08)|all cancers(201;2.85e-07)	2	633	-			36			Pro-rich.		B1AKX7|D3DR87|Q15673|Q8IVG0	Frame_Shift_Del	DEL	ENST00000020673.5	37	c.107delC	CCDS31272.1																																																																																				0.677	PSD-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050041.2			8	82						8	82	---	---	---	---	-	104176689	G	-	104176689	7	5	305	1	0	1	0	1	0	0	0	0	12646	1348	47	0	3031	0	PSD	10	104176689	Frame_Shift_Del	DEL	G	TCGA-KK-A59V-01A-11D-A29Q-08	2351581	104176689	31358058	578	15095											
TMEM180	79847	broad.mit.edu	37	chr10	104230506	104230506	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gggccgctgctggcgctgtcGttcctggcgttctgggtgcc	0	11	17	13	4	1	0	0	0	1	0	3	0	2	0	3	4	2	5	3	4	0	2	rs188900512	byFrequency	TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr10:104230506G>A	ENST00000238936.4	+	5	573	c.336G>A	c.(334-336)tcG>tcA	p.S112S	TMEM180_ENST00000366277.2_Intron|TMEM180_ENST00000369931.3_Intron	NM_024789.3	NP_079065.2	Q14CX5	TM180_HUMAN	transmembrane protein 180	112						integral component of membrane (GO:0016021)				breast(3)|endometrium(2)|large_intestine(3)|lung(1)|ovary(3)|skin(1)	13		Colorectal(252;0.122)		Epithelial(162;3.93e-09)|all cancers(201;1.02e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)		TGGCGCTGTCGTTCCTGGCGT	0.692													G|||	9	0.00179712	0.0023	0.0014	5008	,	,		14114	0		0	False		,,,				2504	0.0051					ENST00000238936.4																			0				breast(3)|endometrium(2)|large_intestine(3)|lung(1)|ovary(3)|skin(1)	13						c.(334-336)tcG>tcA		transmembrane protein 180							68	73	71					10																	104230506		2203	4300	6503	SO:0001819	synonymous_variant	79847					integral to membrane		g.chr10:104230506G>A	AK026182	CCDS7535.1	10q24.32	2011-02-09	2006-10-12	2006-10-12	ENSG00000138111	ENSG00000138111			26196	protein-coding gene	gene with protein product				C10orf77		12477932	Standard	XM_006717971		Approved	FLJ22529, bA18I14.8	uc001kvt.3	Q14CX5	OTTHUMG00000018961	ENST00000238936.4:c.336G>A	10.37:g.104230506G>A						TMEM180_ENST00000366277.2_Intron|TMEM180_ENST00000369931.3_Intron	p.S112S	NM_024789.3	NP_079065.2	Q14CX5	TM180_HUMAN		Epithelial(162;3.93e-09)|all cancers(201;1.02e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)	5	573	+		Colorectal(252;0.122)	112					Q6NWM8|Q6NWM9|Q6PEZ7|Q9H679	Silent	SNP	ENST00000238936.4	37	c.336G>A	CCDS7535.1																																																																																				0.692	TMEM180-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050075.2	NM_024789		61	134	0	0	0	1	0	61	134					A	104230506	G	A	104230506	2	1	305	1	0	0	0	0	0	0	0	1	16096	1132	40	1		1	TMEM180	10	104230506	Silent	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	53817	104230506	31304241	579	15096											
SH3PXD2A	9644	broad.mit.edu	37	chr10	105362575	105362575	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gccgtctgcgggggcagctcCgaatcctcactcttggagcc	5	8	13	15	3	3	0	1	0	2	0	5	2	5	1	4	3	3	2	4	3	1	1	rs201684455		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr10:105362575C>T	ENST00000369774.4	-	15	2676	c.2400G>A	c.(2398-2400)tcG>tcA	p.S800S	SH3PXD2A_ENST00000355946.2_Silent_p.S772S|SH3PXD2A_ENST00000538130.1_Silent_p.S635S|SH3PXD2A_ENST00000540321.1_Silent_p.S667S|SH3PXD2A_ENST00000315994.6_5'UTR|SH3PXD2A_ENST00000427662.2_Intron			Q5TCZ1	SPD2A_HUMAN	SH3 and PX domains 2A	800					superoxide metabolic process (GO:0006801)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|podosome (GO:0002102)	phosphatidylinositol binding (GO:0035091)			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(1)|urinary_tract(1)	38		Colorectal(252;0.0815)|Breast(234;0.131)		Epithelial(162;4.09e-10)|all cancers(201;2.73e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0119)		GGGGCAGCTCCGAATCCTCAC	0.637																																						ENST00000369774.4																			0				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(1)|urinary_tract(1)	38						c.(2398-2400)tcG>tcA		SH3 and PX domains 2A							142	147	146					10																	105362575		2203	4300	6503	SO:0001819	synonymous_variant	9644				cell communication|superoxide metabolic process	cell junction|cell projection|cytoplasm|podosome	phosphatidylinositol binding|protein binding	g.chr10:105362575C>T	AB007878	CCDS31278.1	10q25.1	2006-02-13	2006-02-13	2006-02-13	ENSG00000107957	ENSG00000107957			23664	protein-coding gene	gene with protein product	"five SH3 domains"		"SH3 multiple domains 1"	SH3MD1		9687503	Standard	XM_005270297		Approved	FISH, KIAA0418	uc001kxj.1	Q5TCZ1	OTTHUMG00000018997	ENST00000369774.4:c.2400G>A	10.37:g.105362575C>T						SH3PXD2A_ENST00000427662.2_Intron|SH3PXD2A_ENST00000540321.1_Silent_p.S667S|SH3PXD2A_ENST00000538130.1_Silent_p.S635S|SH3PXD2A_ENST00000315994.6_5'UTR|SH3PXD2A_ENST00000355946.2_Silent_p.S772S	p.S800S			Q5TCZ1	SPD2A_HUMAN		Epithelial(162;4.09e-10)|all cancers(201;2.73e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0119)	15	2676	-		Colorectal(252;0.0815)|Breast(234;0.131)	800					D3DR98|O43302|Q5TCZ2|Q5TDQ8	Silent	SNP	ENST00000369774.4	37	c.2400G>A		.	.	.	.	.	.	.	.	.	.	C	1.409	-0.575900	0.03882	.	.	ENSG00000107957	ENST00000420222	.	.	.	4.83	-9.67	0.00531	.	.	.	.	.	T	0.32556	0.0833	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.43734	-0.9373	4	.	.	.	-10.2137	1.7176	0.02905	0.1233:0.3035:0.2353:0.3378	.	.	.	.	R	727	.	.	G	-	1	0	SH3PXD2A	105352565	0.000000	0.05858	0.838000	0.33150	0.606000	0.37113	-5.999000	0.00086	-1.235000	0.02545	-1.319000	0.01295	GGA		0.637	SH3PXD2A-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000050178.1	NM_014631		88	196	0	0	0	1	0	88	196					T	105362575	C	T	105362575	2	4	305	1	0	0	0	0	0	0	0	1	14256	639	23	2		2	SH3PXD2A	10	105362575	Silent	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	1132069	105362575	30172172	580	15097											
VTI1A	143187	broad.mit.edu	37	chr10	114428700	114428700	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttgtttcttcttgtagcttcGggaaacagatgctaatttgg	8	17	10	6	1	2	1	0	0	2	1	3	2	2	2	0	2	3	4	0	2	3	8			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr10:114428700G>A	ENST00000393077.2	+	7	619	c.503G>A	c.(502-504)cGg>cAg	p.R168Q	RP11-25C19.3_ENST00000443652.1_RNA|VTI1A_ENST00000432306.1_Missense_Mutation_p.R168Q	NM_145206.2	NP_660207.2	Q96AJ9	VTI1A_HUMAN	vesicle transport through interaction with t-SNAREs 1A	168					intracellular protein transport (GO:0006886)|retrograde transport, endosome to Golgi (GO:0042147)	clathrin-coated vesicle (GO:0030136)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|neuron projection terminus (GO:0044306)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|SNARE complex (GO:0031201)|synaptic vesicle (GO:0008021)	SNAP receptor activity (GO:0005484)		VTI1A/TCF7L2(8)	breast(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	6		Colorectal(252;0.0314)|Breast(234;0.183)		Epithelial(162;0.0126)|all cancers(201;0.0487)		TTGTAGCTTCGGGAAACAGAT	0.373			T	TCF7L2	colorectal																																	ENST00000393077.2				Dom	yes		10	10q25.2	143187	T	vesicle transport through interaction with t-SNAREs homolog 1A			E	TCF7L2		colorectal	VTI1A/TCF7L2(8)	0				breast(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	6						c.(502-504)cGg>cAg		vesicle transport through interaction with t-SNAREs 1A							129	126	127					10																	114428700		2203	4300	6503	SO:0001583	missense	143187				intracellular protein transport|retrograde transport, endosome to Golgi	SNARE complex	protein transporter activity|SNAP receptor activity	g.chr10:114428700G>A	BC017052	CCDS7575.2	10q25.2	2012-12-10	2012-12-10		ENSG00000151532	ENSG00000151532			17792	protein-coding gene	gene with protein product		614316	"vesicle transport through interaction with t-SNAREs homolog 1A (yeast)"			9446565	Standard	NM_145206		Approved	MVti1, Vti1a, Vti1-rp2	uc001kzz.3	Q96AJ9	OTTHUMG00000019063	ENST00000393077.2:c.503G>A	10.37:g.114428700G>A	ENSP00000376792:p.Arg168Gln					VTI1A_ENST00000432306.1_Missense_Mutation_p.R168Q	p.R168Q	NM_145206.2	NP_660207.2	Q96AJ9	VTI1A_HUMAN		Epithelial(162;0.0126)|all cancers(201;0.0487)	7	619	+		Colorectal(252;0.0314)|Breast(234;0.183)	168					A2A307|B4E137|Q5W0D7	Missense_Mutation	SNP	ENST00000393077.2	37	c.503G>A	CCDS7575.2	.	.	.	.	.	.	.	.	.	.	G	33	5.220043	0.95139	.	.	ENSG00000151532	ENST00000393077;ENST00000432306	T;T	0.76968	-1.06;-1.06	5.74	5.74	0.90152	Target SNARE coiled-coil domain (1);	0.000000	0.85682	D	0.000000	T	0.82153	0.4975	L	0.41632	1.29	0.80722	D	1	D;D	0.76494	0.999;0.995	D;D	0.65874	0.939;0.915	T	0.74456	-0.3659	10	0.10111	T	0.7	-22.3654	20.2982	0.98569	0.0:0.0:1.0:0.0	.	168;168	Q5W0D7;Q96AJ9	.;VTI1A_HUMAN	Q	168	ENSP00000376792:R168Q;ENSP00000395017:R168Q	ENSP00000376792:R168Q	R	+	2	0	VTI1A	114418690	1.000000	0.71417	1.000000	0.80357	0.821000	0.46438	9.132000	0.94455	2.873000	0.98535	0.563000	0.77884	CGG		0.373	VTI1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050397.2			8	118	0	0	0	1	0	8	118					A	114428700	G	A	114428700	3	1	305	1	0	0	0	0	1	0	0	0	17232	1116	39	2	529	2	VTI1A	10	114428700	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	9066125	114428700	21106047	581	15098											
VWA2	340706	broad.mit.edu	37	chr10	116014686	116014686	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctccctagtgatgtggtgctCggctgcagtggacatcatgt	6	12	13	10	1	1	1	1	1	0	0	3	2	2	2	1	3	2	3	1	3	1	1	rs371453578		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr10:116014686C>T	ENST00000392982.3	+	4	390	c.140C>T	c.(139-141)tCg>tTg	p.S47L	VWA2_ENST00000603594.1_Missense_Mutation_p.S47L			Q5GFL6	VWA2_HUMAN	von Willebrand factor A domain containing 2	47					calcium-independent cell-matrix adhesion (GO:0007161)|protein homooligomerization (GO:0051260)|regulation of insulin receptor signaling pathway (GO:0046626)	basement membrane (GO:0005604)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	identical protein binding (GO:0042802)			central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)	26				Epithelial(162;0.036)|all cancers(201;0.0793)		ATGTGGTGCTCGGCTGCAGTG	0.527																																						ENST00000603594.1																			0				central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)	26						c.(139-141)tCg>tTg		von Willebrand factor A domain containing 2		C	LEU/SER	0,4406		0,0,2203	230	200	211		140	5.2	1	10		211	1,8599	1.2+/-3.3	0,1,4299	no	missense	VWA2	NM_198496.1	145	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging	47/726	116014686	1,13005	2203	4300	6503	SO:0001583	missense	340706					extracellular region		g.chr10:116014686C>T	AK127756	CCDS7589.1, CCDS7589.2	10q25.3	2009-11-06			ENSG00000165816	ENSG00000165816			24709	protein-coding gene	gene with protein product						15580307, 14506275	Standard	NM_001272046		Approved	FLJ45857, FLJ16213, CCSP-2, AMACO, NET42	uc001lbl.2	Q5GFL6	OTTHUMG00000019082	ENST00000392982.3:c.140C>T	10.37:g.116014686C>T	ENSP00000376708:p.Ser47Leu					VWA2_ENST00000392982.3_Missense_Mutation_p.S47L	p.S47L	NM_001272046.1	NP_001258975.1	Q5GFL6	VWA2_HUMAN		Epithelial(162;0.036)|all cancers(201;0.0793)	4	461	+			47					A1A5D4|B5MDJ8|Q6ZS39|Q6ZWJ7|Q708C5|Q70UZ8	Missense_Mutation	SNP	ENST00000392982.3	37	c.140C>T		.	.	.	.	.	.	.	.	.	.	C	22.2	4.256395	0.80246	0.0	1.16E-4	ENSG00000165816	ENST00000392982;ENST00000298715	D	0.97642	-4.47	6.17	5.24	0.73138	.	0.000000	0.64402	D	0.000001	D	0.97108	0.9055	M	0.75264	2.295	0.38546	D	0.949348	D;D	0.64830	0.991;0.994	B;P	0.52066	0.364;0.689	D	0.96430	0.9318	10	0.34782	T	0.22	.	14.3123	0.66424	0.1477:0.8523:0.0:0.0	.	47;47	Q5GFL6;Q5GFL6-2	VWA2_HUMAN;.	L	47	ENSP00000376708:S47L	ENSP00000298715:S47L	S	+	2	0	VWA2	116004676	0.999000	0.42202	0.973000	0.42090	0.381000	0.30169	4.324000	0.59228	2.941000	0.99782	0.655000	0.94253	TCG		0.527	VWA2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000050456.3	NM_198496		8	237	0	0	0	1	0	8	237					T	116014686	C	T	116014686	3	4	305	1	0	0	0	0	1	0	0	0	17236	893	31	2	150	2	VWA2	10	116014686	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	1585986	116014686	19520061	582	15099											
C10orf119	79892	broad.mit.edu	37	chr10	121596512	121596512	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caccttctgccacgttatgaGgttgctcagggctgtcacat	7	12	10	12	1	3	1	2	1	1	0	3	1	3	1	2	2	2	4	2	2	1	3			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr10:121596512G>A	ENST00000360003.3	-	13	1613	c.1444C>T	c.(1444-1446)Ctc>Ttc	p.L482F	MCMBP_ENST00000369077.3_Missense_Mutation_p.L480F|MCMBP_ENST00000466047.1_5'UTR	NM_001256378.1|NM_001256379.1|NM_024834.3	NP_001243307.1|NP_001243308.1|NP_079110.1	Q9BTE3	MCMBP_HUMAN	minichromosome maintenance complex binding protein	482					DNA-dependent DNA replication (GO:0006261)|mitotic nuclear division (GO:0007067)|sister chromatid cohesion (GO:0007062)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	chromatin binding (GO:0003682)	p.L482F(1)		breast(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(2)|skin(2)	21						CACGTTATGAGGTTGCTCAGG	0.433																																						ENST00000360003.3																			1	Substitution - Missense(1)	p.L482F(1)	endometrium(1)	breast(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(2)|skin(2)	21						c.(1444-1446)Ctc>Ttc		minichromosome maintenance complex binding protein							153	127	136					10																	121596512		2203	4300	6503	SO:0001583	missense	79892				cell division|DNA-dependent DNA replication|mitosis|S phase of mitotic cell cycle|sister chromatid cohesion	nucleus	chromatin binding	g.chr10:121596512G>A	BC007219	CCDS7617.1, CCDS58099.1	10q26.13	2013-10-11	2011-01-05	2011-01-05	ENSG00000197771	ENSG00000197771			25782	protein-coding gene	gene with protein product		610909	"chromosome 10 open reading frame 119"	C10orf119		17296731	Standard	NM_024834		Approved	FLJ13081, MCM-BP	uc001ler.3	Q9BTE3	OTTHUMG00000019159	ENST00000360003.3:c.1444C>T	10.37:g.121596512G>A	ENSP00000353098:p.Leu482Phe					MCMBP_ENST00000466047.1_5'UTR|MCMBP_ENST00000369077.3_Missense_Mutation_p.L480F	p.L482F	NM_001256378.1|NM_001256379.1|NM_024834.3	NP_001243307.1|NP_001243308.1|NP_079110.1	Q9BTE3	MCMBP_HUMAN			13	1613	-			482					B3KSP7|Q6IA56|Q9BVT9|Q9H916	Missense_Mutation	SNP	ENST00000360003.3	37	c.1444C>T	CCDS7617.1	.	.	.	.	.	.	.	.	.	.	G	19.56	3.850107	0.71603	.	.	ENSG00000197771	ENST00000360003;ENST00000369077	.	.	.	5.28	5.28	0.74379	.	0.160378	0.43260	D	0.000594	D	0.82531	0.5057	M	0.83312	2.635	0.58432	D	0.999998	D	0.71674	0.998	P	0.62649	0.905	D	0.85264	0.1052	9	0.72032	D	0.01	-7.5471	18.9133	0.92494	0.0:0.0:1.0:0.0	.	482	Q9BTE3	MCMBP_HUMAN	F	482;480	.	ENSP00000353098:L482F	L	-	1	0	MCMBP	121586502	1.000000	0.71417	0.990000	0.47175	0.956000	0.61745	2.077000	0.41557	2.474000	0.83562	0.655000	0.94253	CTC		0.433	MCMBP-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000050684.1	NM_024834		22	69	0	0	0	1	0	22	69					A	121596512	G	A	121596512	3	1	305	1	0	0	0	0	1	0	0	0	1588	1000	35	3	500	3	C10orf119	10	121596512	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	5581826	121596512	13938235	583	15100											
ACADSB	36	broad.mit.edu	37	chr10	124810572	124810572	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgactgttacagggcctccAacaccaagtggctcacgtgg	9	8	11	13	1	1	1	1	1	0	0	2	1	2	1	3	3	2	2	3	3	3	1			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr10:124810572A>G	ENST00000358776.4	+	9	1012	c.998A>G	c.(997-999)cAa>cGa	p.Q333R	ACADSB_ENST00000368869.4_Missense_Mutation_p.Q231R	NM_001609.3	NP_001600.1	P45954	ACDSB_HUMAN	acyl-CoA dehydrogenase, short/branched chain	333					branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|fatty acid metabolic process (GO:0006631)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	acyl-CoA dehydrogenase activity (GO:0003995)|flavin adenine dinucleotide binding (GO:0050660)			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	17		all_neural(114;0.0765)|Colorectal(57;0.102)|all_lung(145;0.11)|Lung NSC(174;0.163)		Colorectal(40;0.0811)|COAD - Colon adenocarcinoma(40;0.0835)	L-Isoleucine(DB00167)|Valproic Acid(DB00313)	CAGGGCCTCCAACACCAAGTG	0.453																																						ENST00000358776.4																			0				breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	17						c.(997-999)cAa>cGa		acyl-CoA dehydrogenase, short/branched chain	L-Isoleucine(DB00167)						37	37	37					10																	124810572		2203	4300	6503	SO:0001583	missense	36				branched chain family amino acid catabolic process|fatty acid metabolic process	mitochondrial matrix	flavin adenine dinucleotide binding	g.chr10:124810572A>G	U12778	CCDS7634.1	10q25-q26	2014-09-17	2010-04-30		ENSG00000196177	ENSG00000196177	1.3.99.-		91	protein-coding gene	gene with protein product		600301	"acyl-Coenzyme A dehydrogenase, short/branched chain"			7698750, 7759115	Standard	NM_001609		Approved	SBCAD, ACAD7	uc001lhb.3	P45954	OTTHUMG00000019200	ENST00000358776.4:c.998A>G	10.37:g.124810572A>G	ENSP00000357873:p.Gln333Arg					ACADSB_ENST00000368869.4_Missense_Mutation_p.Q231R	p.Q333R	NM_001609.3	NP_001600.1	P45954	ACDSB_HUMAN		Colorectal(40;0.0811)|COAD - Colon adenocarcinoma(40;0.0835)	9	1012	+		all_neural(114;0.0765)|Colorectal(57;0.102)|all_lung(145;0.11)|Lung NSC(174;0.163)	333					B4DQ51|Q5SQN6|Q96CX7	Missense_Mutation	SNP	ENST00000358776.4	37	c.998A>G	CCDS7634.1	.	.	.	.	.	.	.	.	.	.	A	22.0	4.224561	0.79576	.	.	ENSG00000196177	ENST00000368869;ENST00000358776	D;D	0.95656	-3.77;-3.77	5.04	3.87	0.44632	Acyl-CoA dehydrogenase/oxidase C-terminal (2);Acyl-CoA oxidase/dehydrogenase, type 1 (1);	0.055316	0.64402	D	0.000001	D	0.95771	0.8624	M	0.66439	2.03	0.80722	D	1	P	0.46621	0.881	P	0.52793	0.709	D	0.94778	0.7951	10	0.72032	D	0.01	.	10.9518	0.47334	0.8597:0.0:0.0:0.1403	.	333	P45954	ACDSB_HUMAN	R	231;333	ENSP00000357862:Q231R;ENSP00000357873:Q333R	ENSP00000357873:Q333R	Q	+	2	0	ACADSB	124800562	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	9.260000	0.95568	0.714000	0.32081	0.528000	0.53228	CAA		0.453	ACADSB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050843.1	NM_001609		4	17	0	0	0	1	0	4	17					G	124810572	A	G	124810572	3	3	305	1	0	0	0	0	1	0	0	0	115	130	5	4	1032	4	ACADSB	10	124810572	Missense_Mutation	SNP	A	TCGA-KK-A59V-01A-11D-A29Q-08	3214060	124810572	10724175	584	15101											
CTBP2	1488	broad.mit.edu	37	chr10	126714845	126714845	+	Intron	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcggagaggcggccacgttgCgctccctctttagcagctcc	5	8	13	15	4	1	1	0	0	1	1	3	2	3	1	3	3	3	4	3	3	1	3	rs372056793		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr10:126714845C>T	ENST00000337195.5	-	3	458				CTBP2_ENST00000411419.2_Intron|CTBP2_ENST00000494626.2_Intron|CTBP2_ENST00000309035.6_Missense_Mutation_p.R495H|CTBP2_ENST00000531469.1_Intron	NM_001329.2	NP_001320.1	P56545	CTBP2_HUMAN	C-terminal binding protein 2						negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)|viral genome replication (GO:0019079)|white fat cell differentiation (GO:0050872)	cell junction (GO:0030054)|nucleus (GO:0005634)|synapse (GO:0045202)|transcriptional repressor complex (GO:0017053)	NAD binding (GO:0051287)|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor (GO:0016616)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.173)		Colorectal(40;0.00572)|COAD - Colon adenocarcinoma(40;0.0127)|GBM - Glioblastoma multiforme(135;0.147)		GGCCACGTTGCGCTCCCTCTT	0.692													C|||	1	0.000199681	0	0	5008	,	,		13539	0		0	False		,,,				2504	0.001					ENST00000309035.6																			0				breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						c.(1483-1485)cGc>cAc		C-terminal binding protein 2		C	HIS/ARG,,	0,4406		0,0,2203	35	39	37		1484,,	5	0.9	10		37	1,8599	1.2+/-3.3	0,1,4299	no	missense,intron,intron	CTBP2	NM_022802.2,NM_001083914.1,NM_001329.2	29,,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,,	495/986,,	126714845	1,13005	2203	4300	6503	SO:0001627	intron_variant	1488				negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent|viral genome replication|white fat cell differentiation	cell junction|synapse|transcriptional repressor complex	NAD binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor|protein binding	g.chr10:126714845C>T	AF016507	CCDS7643.1, CCDS7644.1	10q26.13	2008-08-01			ENSG00000175029	ENSG00000175029			2495	protein-coding gene	gene with protein product		602619				9479502, 11864595	Standard	NM_022802		Approved	ribeye	uc001lie.4	P56545	OTTHUMG00000019224	ENST00000337195.5:c.58+12720G>A	10.37:g.126714845C>T						CTBP2_ENST00000337195.5_Intron|CTBP2_ENST00000494626.2_Intron|CTBP2_ENST00000411419.2_Intron|CTBP2_ENST00000531469.1_Intron	p.R495H	NM_022802.2	NP_073713.2	P56545	CTBP2_HUMAN		Colorectal(40;0.00572)|COAD - Colon adenocarcinoma(40;0.0127)|GBM - Glioblastoma multiforme(135;0.147)	1	1614	-		all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.173)	55					A8K2X5|D3DRF5|O43449|Q5SQP7|Q69YI3|Q86SV0|Q9H2T8	Missense_Mutation	SNP	ENST00000337195.5	37	c.1484G>A	CCDS7643.1	.	.	.	.	.	.	.	.	.	.	c	22.6	4.316292	0.81469	0.0	1.16E-4	ENSG00000175029	ENST00000309035	D	0.85484	-1.99	5.0	5.0	0.66597	.	0.591975	0.13368	N	0.393173	D	0.92848	0.7725	.	.	.	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.92262	0.5818	9	0.56958	D	0.05	.	18.6708	0.91510	0.0:1.0:0.0:0.0	.	495	P56545-2	.	H	495	ENSP00000311825:R495H	ENSP00000311825:R495H	R	-	2	0	CTBP2	126704835	1.000000	0.71417	0.855000	0.33649	0.526000	0.34562	7.523000	0.81856	2.478000	0.83669	0.586000	0.80456	CGC		0.692	CTBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050900.3	NM_001083914		5	104	0	0	0	1	0	5	104					T	126714845	C	T	126714845	1	4	305	0	1	0	0	0	0	0	0	0	3998	768	27	1		1	CTBP2	10	126714845	Intron	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	1904273	126714845	8819902	585	15102											
MMP21	118856	broad.mit.edu	37	chr10	127462562	127462562	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagggcctcgcccagcagccGccagctcagcgtcctcttgg	5	6	12	18	3	2	0	1	0	1	0	4	0	3	0	5	2	4	2	5	2	0	1			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr10:127462562G>A	ENST00000368808.3	-	2	534	c.535C>T	c.(535-537)Cgg>Tgg	p.R179W		NM_147191.1	NP_671724.1	Q8N119	MMP21_HUMAN	matrix metallopeptidase 21	179					hematopoietic progenitor cell differentiation (GO:0002244)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|urinary_tract(1)	16		all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936)			Marimastat(DB00786)	CCCAGCAGCCGCCAGCTCAGC	0.731																																						ENST00000368808.3																			0				endometrium(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|urinary_tract(1)	16						c.(535-537)Cgg>Tgg		matrix metallopeptidase 21							5	6	5					10																	127462562		1781	3552	5333	SO:0001583	missense	118856				proteolysis	extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding	g.chr10:127462562G>A	AF331526	CCDS7647.1	10q26.3	2008-07-28	2005-08-08		ENSG00000154485	ENSG00000154485			14357	protein-coding gene	gene with protein product		608416	"matrix metalloproteinase 21"			11255011	Standard	NM_147191		Approved		uc001liu.3	Q8N119	OTTHUMG00000019235	ENST00000368808.3:c.535C>T	10.37:g.127462562G>A	ENSP00000357798:p.Arg179Trp						p.R179W	NM_147191.1	NP_671724.1	Q8N119	MMP21_HUMAN			2	534	-		all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936)	179					Q5VZP9|Q8NG02	Missense_Mutation	SNP	ENST00000368808.3	37	c.535C>T	CCDS7647.1	.	.	.	.	.	.	.	.	.	.	G	16.74	3.208021	0.58343	.	.	ENSG00000154485	ENST00000368808	T	0.18174	2.23	4.73	-2.84	0.05751	Peptidase M10, metallopeptidase (1);Peptidase, metallopeptidase (1);Metallopeptidase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.43722	0.1260	M	0.89095	3.005	0.44477	D	0.997414	D	0.89917	1.0	D	0.87578	0.998	T	0.56727	-0.7931	10	0.72032	D	0.01	-5.5414	15.0842	0.72138	0.0:0.0:0.6782:0.3218	.	179	Q8N119	MMP21_HUMAN	W	179	ENSP00000357798:R179W	ENSP00000357798:R179W	R	-	1	2	MMP21	127452552	0.730000	0.28100	0.977000	0.42913	0.592000	0.36648	-0.425000	0.07017	-0.413000	0.07507	-1.527000	0.00925	CGG		0.731	MMP21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050928.1			9	18	0	0	0	1	0	9	18					A	127462562	G	A	127462562	3	1	305	1	0	0	0	0	1	0	0	0	9660	1086	38	1	1198	1	MMP21	10	127462562	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	747717	127462562	8072185	586	15103											
FAM196A	642938	broad.mit.edu	37	chr10	128973691	128973691	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cccggcggggtgtgagtctgCgacggctgctcactacattc	5	9	14	13	4	2	1	1	1	1	0	3	2	2	1	1	4	3	2	1	4	1	2	rs139302074	byFrequency	TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr10:128973691C>T	ENST00000522781.1	-	4	1524	c.969G>A	c.(967-969)tcG>tcA	p.S323S	FAM196A_ENST00000424811.2_Silent_p.S323S|DOCK1_ENST00000280333.6_Intron	NM_001039762.2	NP_001034851.1	Q6ZSG2	F196A_HUMAN	family with sequence similarity 196, member A	323										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						TGTGAGTCTGCGACGGCTGCT	0.642													C|||	3	0.000599042	0.0023	0	5008	,	,		16306	0		0	False		,,,				2504	0					ENST00000522781.1																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						c.(967-969)tcG>tcA		family with sequence similarity 196, member A		C	,	5,4401	8.1+/-20.4	0,5,2198	73	77	76		969,	-0.7	0	10	dbSNP_134	76	0,8598		0,0,4299	no	coding-synonymous,intron	DOCK1,FAM196A	NM_001039762.2,NM_001380.3	,	0,5,6497	TT,TC,CC		0.0,0.1135,0.0384	,	323/480,	128973691	5,12999	2203	4299	6502	SO:0001819	synonymous_variant	642938							g.chr10:128973691C>T		CCDS31312.1	10q26.2	2009-09-11	2009-09-11	2009-09-11		ENSG00000188916			33859	protein-coding gene	gene with protein product			"chromosome 10 open reading frame 141"	C10orf141			Standard	NM_001039762		Approved	FLJ45557	uc001ljv.1	Q6ZSG2		ENST00000522781.1:c.969G>A	10.37:g.128973691C>T						DOCK1_ENST00000280333.6_Intron|FAM196A_ENST00000424811.2_Silent_p.S323S	p.S323S	NM_001039762.2	NP_001034851.1	Q6ZSG2	F196A_HUMAN			4	1524	-			323					B2RNT4|B7ZME7	Silent	SNP	ENST00000522781.1	37	c.969G>A	CCDS31312.1																																																																																				0.642	FAM196A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050978.2	NM_001039762		53	130	0	0	0	1	0	53	130					T	128973691	C	T	128973691	2	4	305	1	0	0	0	0	0	0	0	1	5528	755	27	1		1	FAM196A	10	128973691	Silent	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	1511129	128973691	6561056	587	15104											
MKI67	4288	broad.mit.edu	37	chr10	129903178	129903178	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggtcttctagagcctgggccTtttccttaggagtttgtggc	4	15	13	9	0	2	1	0	0	2	1	3	2	3	2	3	4	1	1	3	4	2	6			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr10:129903178T>C	ENST00000368654.3	-	13	7301	c.6926A>G	c.(6925-6927)aAg>aGg	p.K2309R	MKI67_ENST00000368653.3_Missense_Mutation_p.K1949R	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	2309	16 X 122 AA approximate repeats.				cell proliferation (GO:0008283)|cellular response to heat (GO:0034605)|DNA metabolic process (GO:0006259)|hyaluronan metabolic process (GO:0030212)|meiotic nuclear division (GO:0007126)|organ regeneration (GO:0031100)|response to organic cyclic compound (GO:0014070)	chromosome, centromeric region (GO:0000775)|condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				AGCCTGGGCCTTTTCCTTAGG	0.488																																						ENST00000368654.3																			0				NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159						c.(6925-6927)aAg>aGg		marker of proliferation Ki-67							194	207	203					10																	129903178		2203	4300	6503	SO:0001583	missense	4288				cell proliferation	nucleolus	ATP binding|protein C-terminus binding	g.chr10:129903178T>C	X65550	CCDS7659.1, CCDS53588.1	10q26.2	2014-06-12	2013-10-10		ENSG00000148773	ENSG00000148773			7107	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 105"	176741	"antigen identified by monoclonal antibody Ki-67"			2571566, 16206250	Standard	NM_002417		Approved	MIB-, PPP1R105	uc001lke.3	P46013	OTTHUMG00000019255	ENST00000368654.3:c.6926A>G	10.37:g.129903178T>C	ENSP00000357643:p.Lys2309Arg					MKI67_ENST00000368653.3_Missense_Mutation_p.K1949R	p.K2309R	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN			13	7301	-		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)	2309			16 X 122 AA approximate repeats.		Q5VWH2	Missense_Mutation	SNP	ENST00000368654.3	37	c.6926A>G	CCDS7659.1	.	.	.	.	.	.	.	.	.	.	T	10.42	1.344470	0.24339	.	.	ENSG00000148773	ENST00000368654;ENST00000368653;ENST00000537609	T;T	0.02631	4.22;4.22	3.6	-2.43	0.06522	.	1.087730	0.07310	N	0.875636	T	0.03915	0.0110	L	0.56769	1.78	0.09310	N	1	B;P;B	0.41546	0.172;0.754;0.4	B;B;B	0.40506	0.058;0.331;0.228	T	0.41680	-0.9495	10	0.21014	T	0.42	.	8.0535	0.30591	0.0:0.3587:0.0:0.6413	.	2308;1949;2309	F5H4V4;P46013-2;P46013	.;.;KI67_HUMAN	R	2309;1949;2308	ENSP00000357643:K2309R;ENSP00000357642:K1949R	ENSP00000357642:K1949R	K	-	2	0	MKI67	129793168	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	0.323000	0.19593	-0.756000	0.04703	-0.379000	0.06801	AAG		0.488	MKI67-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050999.1	NM_002417		4	347	0	0	0	1	0	4	347					C	129903178	T	C	129903178	3	2	305	1	0	0	0	0	1	0	0	0	9598	1609	56	4	2856	4	MKI67	10	129903178	Missense_Mutation	SNP	T	TCGA-KK-A59V-01A-11D-A29Q-08	929487	129903178	5631569	588	15105											
JAKMIP3	282973	broad.mit.edu	37	chr10	133949508	133949508	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aagcgcctcagtcggaagaaCgaggatttgtctcatgcttt	10	11	11	9	3	2	1	2	0	1	1	4	4	2	3	1	2	3	1	1	2	3	2			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr10:133949508C>T	ENST00000298622.4	+	5	1182	c.1044C>T	c.(1042-1044)aaC>aaT	p.N348N		NM_001105521.2	NP_001098991.1	Q5VZ66	JKIP3_HUMAN	Janus kinase and microtubule interacting protein 3	348						Golgi apparatus (GO:0005794)				breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	31		all_cancers(35;5.63e-09)|all_epithelial(44;9.25e-07)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|Colorectal(31;0.0721)|all_neural(114;0.0726)|Breast(234;0.0949)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;0.000104)|Epithelial(32;0.000142)|all cancers(32;0.000185)|BRCA - Breast invasive adenocarcinoma(275;0.224)		GTCGGAAGAACGAGGATTTGT	0.493																																						ENST00000298622.4																			0				breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	31						c.(1042-1044)aaC>aaT		Janus kinase and microtubule interacting protein 3							66	72	70					10																	133949508		1948	4129	6077	SO:0001819	synonymous_variant	282973							g.chr10:133949508C>T	AL832756	CCDS44494.1	10q26.3	2009-04-23	2009-04-23	2008-01-28	ENSG00000188385	ENSG00000188385			23523	protein-coding gene	gene with protein product	"neuroendocrine long coiled-coil 2"	611198	"chromosome 10 open reading frame 39", "chromosome 10 open reading frame 14"	C10orf39, C10orf14		15277531, 17572408	Standard	NM_001105521		Approved	FLJ37857, NECC2, KIAA4091, bA140A10.5	uc001lkx.4	Q5VZ66	OTTHUMG00000150167	ENST00000298622.4:c.1044C>T	10.37:g.133949508C>T							p.N348N	NM_001105521.2	NP_001098991.1				OV - Ovarian serous cystadenocarcinoma(35;0.000104)|Epithelial(32;0.000142)|all cancers(32;0.000185)|BRCA - Breast invasive adenocarcinoma(275;0.224)	5	1182	+		all_cancers(35;5.63e-09)|all_epithelial(44;9.25e-07)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|Colorectal(31;0.0721)|all_neural(114;0.0726)|Breast(234;0.0949)|Glioma(114;0.172)|Melanoma(40;0.175)						A6PW00|Q69YM6|Q6ZT29	Silent	SNP	ENST00000298622.4	37	c.1044C>T	CCDS44494.1																																																																																				0.493	JAKMIP3-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051049.3	NM_194303		14	25	0	0	0	1	0	14	25					T	133949508	C	T	133949508	2	4	305	1	0	0	0	0	0	0	0	1	7942	535	19	1		1	JAKMIP3	10	133949508	Silent	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	4046330	133949508	1585239	589	15106											
PWWP2B	170394	broad.mit.edu	37	chr10	134218871	134218871	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcaggccccgcaggacgaCggcagccaggaccccgaggt	9	1	15	16	4	0	0	0	0	0	0	0	4	0	2	5	5	2	3	5	5	0	0	rs145952219	byFrequency	TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr10:134218871C>T	ENST00000305233.5	+	2	926	c.867C>T	c.(865-867)gaC>gaT	p.D289D	PWWP2B_ENST00000368609.4_Silent_p.D289D	NM_138499.3	NP_612508.3	Q6NUJ5	PWP2B_HUMAN	PWWP domain containing 2B	289										central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|urinary_tract(1)	9		all_cancers(35;6.69e-12)|all_epithelial(44;1.55e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Breast(234;0.106)|Colorectal(31;0.109)|Melanoma(40;0.123)|Glioma(114;0.203)|all_hematologic(284;0.224)		OV - Ovarian serous cystadenocarcinoma(35;7.49e-05)|Epithelial(32;0.00016)|all cancers(32;0.000186)		CGCAGGACGACGGCAGCCAGG	0.701													C|||	2	0.000399361	0	0.0014	5008	,	,		13205	0		0.001	False		,,,				2504	0					ENST00000305233.5																			0				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|urinary_tract(1)	9						c.(865-867)gaC>gaT		PWWP domain containing 2B		C	,	0,4320		0,0,2160	15	21	19		867,867	-7.8	0	10	dbSNP_134	19	7,8499		0,7,4246	no	coding-synonymous,coding-synonymous	PWWP2B	NM_001098637.1,NM_138499.3	,	0,7,6406	TT,TC,CC		0.0823,0.0,0.0546	,	289/500,289/591	134218871	7,12819	2160	4253	6413	SO:0001819	synonymous_variant	170394							g.chr10:134218871C>T	AK128663	CCDS7667.2	10q26.3	2009-06-03	2007-10-22	2007-10-22	ENSG00000171813	ENSG00000171813			25150	protein-coding gene	gene with protein product			"PWWP domain containing 2"	PWWP2			Standard	NM_001098637		Approved	bA432J24.1, FLJ46823	uc001lll.4	Q6NUJ5	OTTHUMG00000019286	ENST00000305233.5:c.867C>T	10.37:g.134218871C>T						PWWP2B_ENST00000368609.4_Silent_p.D289D	p.D289D	NM_138499.3	NP_612508.3	Q6NUJ5	PWP2B_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;7.49e-05)|Epithelial(32;0.00016)|all cancers(32;0.000186)	2	926	+		all_cancers(35;6.69e-12)|all_epithelial(44;1.55e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Breast(234;0.106)|Colorectal(31;0.109)|Melanoma(40;0.123)|Glioma(114;0.203)|all_hematologic(284;0.224)	289					A6NM90|B5MDQ1|H9KV61|Q5SZI0|Q6ZQX5|Q96F43	Silent	SNP	ENST00000305233.5	37	c.867C>T	CCDS7667.2																																																																																				0.701	PWWP2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051075.3	NM_138499		16	48	0	0	0	1	0	16	48					T	134218871	C	T	134218871	2	4	305	1	0	0	0	0	0	0	0	1	12846	535	19	1		1	PWWP2B	10	134218871	Silent	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	269363	134218871	1315876	590	15107											
B4GALNT4	338707	broad.mit.edu	37	chr11	380294	380294	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acctcccgcaccccccaggaCgccagcagcatcgtgttcct	7	6	8	20	3	0	0	0	0	0	0	3	1	2	1	7	1	2	4	7	1	0	1			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr11:380294C>T	ENST00000329962.6	+	18	2718	c.2718C>T	c.(2716-2718)gaC>gaT	p.D906D		NM_178537.4	NP_848632.2	Q76KP1	B4GN4_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 4	906					metabolic process (GO:0008152)	Golgi cisterna membrane (GO:0032580)|integral component of membrane (GO:0016021)	acetylgalactosaminyltransferase activity (GO:0008376)|N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity (GO:0033842)			endometrium(2)|kidney(4)|large_intestine(1)|liver(2)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	24		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CCCCCCAGGACGCCAGCAGCA	0.701																																						ENST00000329962.6																			0				endometrium(2)|kidney(4)|large_intestine(1)|liver(2)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	24						c.(2716-2718)gaC>gaT		beta-1,4-N-acetyl-galactosaminyl transferase 4							65	49	54					11																	380294		2203	4299	6502	SO:0001819	synonymous_variant	338707					Golgi cisterna membrane|integral to membrane	N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity	g.chr11:380294C>T	AB089939	CCDS7694.1	11p15.5	2013-02-19			ENSG00000182272	ENSG00000182272	2.4.1.-	"Beta 4-glycosyltransferases"	26315	protein-coding gene	gene with protein product						15044014	Standard	NM_178537		Approved	FLJ25045, NGalNAc-T1	uc001lpb.3	Q76KP1	OTTHUMG00000119075	ENST00000329962.6:c.2718C>T	11.37:g.380294C>T							p.D906D	NM_178537.4	NP_848632.2	Q76KP1	B4GN4_HUMAN		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)	18	2718	+		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)	906					Q96LV2	Silent	SNP	ENST00000329962.6	37	c.2718C>T	CCDS7694.1																																																																																				0.701	B4GALNT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239289.2	NM_178537		19	54	0	0	0	1	0	19	54					T	380294	C	T	380294	2	4	305	1	0	0	0	0	0	0	0	1	1269	535	19	1		1	B4GALNT4	11	380294	Silent	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08		380294	134626222	591	15108											
PHRF1	57661	broad.mit.edu	37	chr11	607296	607296	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccctggggcggttcaggctCggaacttgtcaaatgggagt	7	9	15	10	2	2	0	2	0	0	0	3	2	2	2	2	6	1	2	2	6	2	2			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr11:607296C>A	ENST00000264555.5	+	14	1968	c.1840C>A	c.(1840-1842)Cgg>Agg	p.R614R	PHRF1_ENST00000416188.2_Silent_p.R613R|PHRF1_ENST00000533464.1_Silent_p.R610R|PHRF1_ENST00000413872.2_Silent_p.R612R	NM_020901.2	NP_065952.2	Q9P1Y6	PHRF1_HUMAN	PHD and ring finger domains 1	614					mRNA processing (GO:0006397)|transcription from RNA polymerase II promoter (GO:0006366)	membrane (GO:0016020)	RNA polymerase binding (GO:0070063)|zinc ion binding (GO:0008270)			breast(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|urinary_tract(2)	28						GGTTCAGGCTCGGAACTTGTC	0.672																																						ENST00000264555.5																			0				breast(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|urinary_tract(2)	28						c.(1840-1842)Cgg>Agg		PHD and ring finger domains 1							62	70	67					11																	607296		1965	4136	6101	SO:0001819	synonymous_variant	57661						RNA polymerase binding|zinc ion binding	g.chr11:607296C>A	BC004950	CCDS44507.1, CCDS65987.1, CCDS65988.1, CCDS65989.1	11p15.5	2014-06-13			ENSG00000070047	ENSG00000070047		"RING-type (C3HC4) zinc fingers", "Zinc fingers, PHD-type"	24351	protein-coding gene	gene with protein product	"CTD binding SR like protein rA9", "protein phosphatase 1, regulatory subunit 125"	611780		RNF221			Standard	XM_005253027		Approved	KIAA1542, PPP1R125	uc010qwc.2	Q9P1Y6	OTTHUMG00000165141	ENST00000264555.5:c.1840C>A	11.37:g.607296C>A						PHRF1_ENST00000413872.2_Silent_p.R612R|PHRF1_ENST00000416188.2_Silent_p.R613R|PHRF1_ENST00000533464.1_Silent_p.R610R	p.R614R	NM_020901.2	NP_065952.2	Q9P1Y6	PHRF1_HUMAN			14	1968	+			614					A6H8W1|B7ZM64|B9EGP0|C9JS82|Q6PJP2|Q8IVY2|Q8N2Y7|Q9BSM2	Silent	SNP	ENST00000264555.5	37	c.1840C>A																																																																																					0.672	PHRF1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000382133.1	NM_020901		5	143	1	0	0.000602214	1	0.000612978	5	143					A	607296	C	A	607296	2	1	305	1	0	0	0	0	0	0	0	1	11861	875	31	5		5	PHRF1	11	607296	Silent	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	227002	607296	134399220	592	15109											
EPS8L2	64787	broad.mit.edu	37	chr11	720196	720196	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgcaggtgaacgaccagtcGctgcggctgctggacatcga	8	7	14	12	4	0	1	0	1	0	0	2	4	0	2	1	3	4	4	1	3	1	0			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr11:720196G>A	ENST00000533256.1	+	6	675	c.300G>A	c.(298-300)tcG>tcA	p.S100S	EPS8L2_ENST00000530636.1_Silent_p.S100S|EPS8L2_ENST00000526198.1_Silent_p.S100S|EPS8L2_ENST00000318562.8_Silent_p.S100S|AP006621.9_ENST00000527021.2_RNA			Q9H6S3	ES8L2_HUMAN	EPS8-like 2	100	PID. {ECO:0000255|PROSITE- ProRule:PRU00148}.				positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of ruffle assembly (GO:1900029)|regulation of Rho protein signal transduction (GO:0035023)|Rho protein signal transduction (GO:0007266)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ruffle membrane (GO:0032587)|vesicle (GO:0031982)	actin binding (GO:0003779)			NS(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|pancreas(1)|prostate(2)|soft_tissue(1)|urinary_tract(1)	13		all_cancers(49;1.24e-08)|all_epithelial(84;1.87e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)		all cancers(45;4.37e-27)|Epithelial(43;2.81e-26)|OV - Ovarian serous cystadenocarcinoma(40;1.33e-20)|BRCA - Breast invasive adenocarcinoma(625;4.29e-05)|Lung(200;0.0582)|LUSC - Lung squamous cell carcinoma(625;0.0703)		ACGACCAGTCGCTGCGGCTGC	0.662																																						ENST00000533256.1																			0				NS(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|pancreas(1)|prostate(2)|soft_tissue(1)|urinary_tract(1)	13						c.(298-300)tcG>tcA		EPS8-like 2							58	50	53					11																	720196		2203	4300	6503	SO:0001819	synonymous_variant	64787					cytoplasm		g.chr11:720196G>A	AF318331	CCDS31328.1	11p15.5	2008-02-05				ENSG00000177106			21296	protein-coding gene	gene with protein product		614988				12620401	Standard	NM_022772		Approved	FLJ21935, FLJ22171, MGC3088	uc001lqt.3	Q9H6S3		ENST00000533256.1:c.300G>A	11.37:g.720196G>A						EPS8L2_ENST00000526198.1_Silent_p.S100S|EPS8L2_ENST00000530636.1_Silent_p.S100S|EPS8L2_ENST00000318562.8_Silent_p.S100S|AP006621.9_ENST00000527021.2_RNA	p.S100S			Q9H6S3	ES8L2_HUMAN		all cancers(45;4.37e-27)|Epithelial(43;2.81e-26)|OV - Ovarian serous cystadenocarcinoma(40;1.33e-20)|BRCA - Breast invasive adenocarcinoma(625;4.29e-05)|Lung(200;0.0582)|LUSC - Lung squamous cell carcinoma(625;0.0703)	6	675	+		all_cancers(49;1.24e-08)|all_epithelial(84;1.87e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)	100			PID.		B3KSX1|B7ZKL3|Q53GM8|Q8WYW7|Q96K06|Q9H6K9	Silent	SNP	ENST00000533256.1	37	c.300G>A	CCDS31328.1																																																																																				0.662	EPS8L2-003	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382344.1	NM_022772		5	72	0	0	0	1	0	5	72					A	720196	G	A	720196	2	1	305	1	0	0	0	0	0	0	0	1	5196	1074	38	1		1	EPS8L2	11	720196	Silent	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	112900	720196	134286320	593	15110											
PDDC1	347862	broad.mit.edu	37	chr11	771082	771082	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggtggcggtccagcacgacGtggacagcgtcaggctcgct	7	6	16	12	5	1	0	1	0	0	0	3	2	2	1	1	5	2	3	1	5	0	0			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr11:771082G>A	ENST00000319863.8	-	7	588	c.567C>T	c.(565-567)caC>caT	p.H189H	PDDC1_ENST00000526325.1_Intron|PDDC1_ENST00000524550.1_Silent_p.H153H|PDDC1_ENST00000397472.2_Intron|PDDC1_ENST00000529966.1_5'UTR|PDDC1_ENST00000442059.2_Silent_p.H139H	NM_182612.2	NP_872418.1	Q8NB37	PDDC1_HUMAN	Parkinson disease 7 domain containing 1	189						extracellular vesicular exosome (GO:0070062)				kidney(1)|lung(3)|urinary_tract(1)	5		all_cancers(49;1.13e-08)|all_epithelial(84;2.95e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.159)|all_lung(207;0.198)		all cancers(45;3.66e-26)|Epithelial(43;2.43e-25)|OV - Ovarian serous cystadenocarcinoma(40;1.33e-19)|BRCA - Breast invasive adenocarcinoma(625;4.29e-05)|Lung(200;0.0582)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CCAGCACGACGTGGACAGCGT	0.667																																						ENST00000319863.8																			0				kidney(1)|lung(3)|urinary_tract(1)	5						c.(565-567)caC>caT		Parkinson disease 7 domain containing 1							40	40	40					11																	771082		2198	4298	6496	SO:0001819	synonymous_variant	347862					extracellular region		g.chr11:771082G>A	AK128653	CCDS7713.1	11p15.5	2005-10-26			ENSG00000177225	ENSG00000177225			26616	protein-coding gene	gene with protein product							Standard	XM_005252898		Approved	FLJ34283	uc001lrc.3	Q8NB37	OTTHUMG00000133315	ENST00000319863.8:c.567C>T	11.37:g.771082G>A						PDDC1_ENST00000526325.1_Intron|PDDC1_ENST00000524550.1_Silent_p.H153H|PDDC1_ENST00000397472.2_Intron|PDDC1_ENST00000529966.1_5'UTR|PDDC1_ENST00000442059.2_Silent_p.H139H	p.H189H	NM_182612.2	NP_872418.1	Q8NB37	PDDC1_HUMAN		all cancers(45;3.66e-26)|Epithelial(43;2.43e-25)|OV - Ovarian serous cystadenocarcinoma(40;1.33e-19)|BRCA - Breast invasive adenocarcinoma(625;4.29e-05)|Lung(200;0.0582)|LUSC - Lung squamous cell carcinoma(625;0.0703)	7	588	-		all_cancers(49;1.13e-08)|all_epithelial(84;2.95e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.159)|all_lung(207;0.198)	189					B7ZKW5|Q2NL76|Q6ZQY0|Q8NAE0	Silent	SNP	ENST00000319863.8	37	c.567C>T	CCDS7713.1	.	.	.	.	.	.	.	.	.	.	G	1.854	-0.464332	0.04476	.	.	ENSG00000177225	ENST00000465313	.	.	.	4.55	-0.832	0.10785	.	.	.	.	.	T	0.55545	0.1927	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.48468	-0.9033	4	.	.	.	.	9.7391	0.40406	0.6048:0.0:0.3952:0.0	.	.	.	.	C	40	.	.	R	-	1	0	PDDC1	761082	0.939000	0.31865	0.409000	0.26459	0.153000	0.21895	-0.061000	0.11693	-0.383000	0.07858	0.462000	0.41574	CGT		0.667	PDDC1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258051.2	NM_182612		8	18	0	0	0	1	0	8	18					A	771082	G	A	771082	2	1	305	1	0	0	0	0	0	0	0	1	11629	1136	40	1		1	PDDC1	11	771082	Silent	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	50886	771082	134235434	594	15111											
SLC25A22	79751	broad.mit.edu	37	chr11	792012	792012	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaggggcgcgatgaccagcGcgcggcagtaggcgcccttc	8	4	16	13	6	0	1	0	1	0	0	1	2	0	1	2	4	1	2	2	4	2	2	rs183409730		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr11:792012G>A	ENST00000320230.5	-	10	1356	c.875C>T	c.(874-876)gCg>gTg	p.A292V	SLC25A22_ENST00000531214.1_Missense_Mutation_p.A292V|CEND1_ENST00000330106.4_5'Flank|CEND1_ENST00000524587.1_5'Flank	NM_001191061.1|NM_024698.5	NP_001177990.1|NP_078974.1	Q9H936	GHC1_HUMAN	solute carrier family 25 (mitochondrial carrier: glutamate), member 22	292					L-glutamate transport (GO:0015813)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	L-glutamate transmembrane transporter activity (GO:0005313)|symporter activity (GO:0015293)			endometrium(1)|kidney(1)|lung(2)|urinary_tract(1)	5		all_cancers(49;4.75e-06)|all_epithelial(84;0.00204)|Breast(177;0.00234)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;6.27e-26)|Epithelial(43;4.84e-25)|OV - Ovarian serous cystadenocarcinoma(40;2.72e-19)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GATGACCAGCGCGCGGCAGTA	0.692													G|||	1	0.000199681	0	0	5008	,	,		16951	0.001		0	False		,,,				2504	0				Colon(93;848 1468 3270 23355 49636)	ENST00000320230.5																			0				endometrium(1)|kidney(1)|lung(2)|urinary_tract(1)	5						c.(874-876)gCg>gTg		solute carrier family 25 (mitochondrial carrier: glutamate), member 22	L-Glutamic Acid(DB00142)	G	VAL/ALA,VAL/ALA,VAL/ALA	0,4380		0,0,2190	17	16	16		875,875,875	3.9	0.3	11		16	2,8570		0,2,4284	no	missense,missense,missense	SLC25A22	NM_001191060.1,NM_001191061.1,NM_024698.5	64,64,64	0,2,6474	AA,AG,GG		0.0233,0.0,0.0154	benign,benign,benign	292/324,292/324,292/324	792012	2,12950	2190	4286	6476	SO:0001583	missense	79751					integral to membrane|mitochondrial inner membrane|nucleus	L-glutamate transmembrane transporter activity|protein binding|symporter activity	g.chr11:792012G>A	AJ428202	CCDS7715.1	11p15.5	2013-05-22			ENSG00000177542	ENSG00000177542		"Solute carriers"	19954	protein-coding gene	gene with protein product		609302				11897791	Standard	NM_024698		Approved	GC1, FLJ13044, NET44, EIEE3	uc001lrj.3	Q9H936	OTTHUMG00000133310	ENST00000320230.5:c.875C>T	11.37:g.792012G>A	ENSP00000322020:p.Ala292Val					SLC25A22_ENST00000531214.1_Missense_Mutation_p.A292V	p.A292V	NM_001191061.1|NM_024698.5	NP_001177990.1|NP_078974.1	Q9H936	GHC1_HUMAN		all cancers(45;6.27e-26)|Epithelial(43;4.84e-25)|OV - Ovarian serous cystadenocarcinoma(40;2.72e-19)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	10	1356	-		all_cancers(49;4.75e-06)|all_epithelial(84;0.00204)|Breast(177;0.00234)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)	292					A8K366|C9J1H6|E9PJD3|E9PKB2|E9PL68|E9PN26|E9PNQ3|E9PP01|E9PR97|Q8TBU8	Missense_Mutation	SNP	ENST00000320230.5	37	c.875C>T	CCDS7715.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	10.22	1.291442	0.23564	0.0	2.33E-4	ENSG00000177542	ENST00000320230;ENST00000531214	T;T	0.76448	-1.02;-1.02	3.87	3.87	0.44632	Mitochondrial carrier domain (2);	0.000000	0.85682	D	0.000000	T	0.59280	0.2182	N	0.01003	-1.06	0.58432	D	0.999999	D	0.56521	0.976	P	0.55577	0.779	T	0.63541	-0.6614	10	0.02654	T	1	-25.0778	16.4038	0.83651	0.0:0.0:1.0:0.0	.	292	Q9H936	GHC1_HUMAN	V	292	ENSP00000322020:A292V;ENSP00000437236:A292V	ENSP00000322020:A292V	A	-	2	0	SLC25A22	782012	1.000000	0.71417	0.257000	0.24404	0.196000	0.23810	6.314000	0.72848	2.177000	0.69029	0.655000	0.94253	GCG		0.692	SLC25A22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257107.2			4	18	0	0	0	1	0	4	18					A	792012	G	A	792012	3	1	305	1	0	0	0	0	1	0	0	0	14485	1087	38	1	100	1	SLC25A22	11	792012	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	20930	792012	134214504	595	15112											
MUC5B	727897	broad.mit.edu	37	chr11	1262500	1262500	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	caacccagaccacagcaaccGaaaagaccaccctatgggtg	15	3	8	15	1	0	2	0	0	0	2	0	3	0	2	5	1	3	1	5	1	5	1			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr11:1262500G>A	ENST00000529681.1	+	31	4448	c.4390G>A	c.(4390-4392)Gaa>Aaa	p.E1464K	RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000447027.1_Missense_Mutation_p.E1467K	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	1464	7 X Cys-rich subdomain repeats.|Thr-rich.				cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CACAGCAACCGAAAAGACCAC	0.706																																						ENST00000447027.1																			0				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137						c.(4399-4401)Gaa>Aaa		mucin 5B, oligomeric mucus/gel-forming							47	56	53					11																	1262500		2009	4144	6153	SO:0001583	missense	727897				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	g.chr11:1262500G>A	U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"Mucins"	7516	protein-coding gene	gene with protein product		600770	"mucin 5, subtype B, tracheobronchial"	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.4390G>A	11.37:g.1262500G>A	ENSP00000436812:p.Glu1464Lys					MUC5B_ENST00000529681.1_Missense_Mutation_p.E1464K	p.E1467K			Q9HC84	MUC5B_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)	31	4457	+		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	1464			7 X Cys-rich subdomain repeats.|Thr-rich.		O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Missense_Mutation	SNP	ENST00000529681.1	37	c.4399G>A	CCDS44515.2	.	.	.	.	.	.	.	.	.	.	g	12.08	1.830130	0.32329	.	.	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637;ENST00000406844	T;T	0.16897	2.31;2.49	3.81	-7.62	0.01294	.	.	.	.	.	T	0.08088	0.0202	N	0.19112	0.55	0.09310	N	1	B;B	0.18968	0.032;0.032	B;B	0.06405	0.002;0.002	T	0.41142	-0.9525	9	0.87932	D	0	.	4.9526	0.14023	0.2381:0.5079:0.1529:0.101	.	2157;1467	A7Y9J9;E9PBJ0	.;.	K	1464;1467;1465;1534	ENSP00000436812:E1464K;ENSP00000415793:E1467K	ENSP00000343037:E1465K	E	+	1	0	MUC5B	1219076	0.000000	0.05858	0.000000	0.03702	0.185000	0.23345	-0.244000	0.08903	-1.021000	0.03350	0.306000	0.20318	GAA		0.706	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093		5	7	0	0	0	1	0	5	7					A	1262500	G	A	1262500	3	1	305	1	0	0	0	0	1	0	0	0	9979	1059	37	2	4521	2	MUC5B	11	1262500	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	470488	1262500	133744016	596	15113											
MUC5B	727897	broad.mit.edu	37	chr11	1267116	1267116	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cagaccacagcagccactacGaccgcaaccactggatccac	13	3	7	18	2	0	1	0	0	0	1	1	3	1	2	5	1	4	2	5	1	2	1			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr11:1267116G>A	ENST00000529681.1	+	31	9064	c.9006G>A	c.(9004-9006)acG>acA	p.T3002T	RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000447027.1_Silent_p.T3005T	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	3002	17 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.			Missing (in Ref. 6; AAB61398). {ECO:0000305}.	cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CAGCCACTACGACCGCAACCA	0.677																																						ENST00000447027.1																			0				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137						c.(9013-9015)acG>acA		mucin 5B, oligomeric mucus/gel-forming							114	145	135					11																	1267116		2124	4228	6352	SO:0001819	synonymous_variant	727897				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	g.chr11:1267116G>A	U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"Mucins"	7516	protein-coding gene	gene with protein product		600770	"mucin 5, subtype B, tracheobronchial"	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.9006G>A	11.37:g.1267116G>A						MUC5B_ENST00000529681.1_Silent_p.T3002T|RP11-532E4.2_ENST00000532061.2_RNA	p.T3005T			Q9HC84	MUC5B_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)	31	9073	+		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	3002	Missing (in Ref. 6; AAB61398).		17 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.		O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Silent	SNP	ENST00000529681.1	37	c.9015G>A	CCDS44515.2																																																																																				0.677	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093		68	195	0	0	0	1	0	68	195					A	1267116	G	A	1267116	2	1	305	1	0	0	0	0	0	0	0	1	9979	1045	37	2		2	MUC5B	11	1267116	Silent	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	4616	1267116	133739400	597	15114											
MUC5B	727897	broad.mit.edu	37	chr11	1268946	1268946	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ggggcagtctgtgagcagccCctgggcctcgagtgccgtgc	4	7	17	13	2	1	1	0	1	1	0	2	2	1	1	4	3	4	2	4	3	0	0			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr11:1268946C>T	ENST00000529681.1	+	31	10894	c.10836C>T	c.(10834-10836)ccC>ccT	p.P3612P	RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000447027.1_Silent_p.P3615P	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	3612	7 X Cys-rich subdomain repeats.|Thr-rich.			Missing (in Ref. 6; AAB61398). {ECO:0000305}.	cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		GTGAGCAGCCCCTGGGCCTCG	0.677																																						ENST00000447027.1																			0				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137						c.(10843-10845)ccC>ccT		mucin 5B, oligomeric mucus/gel-forming							32	35	34					11																	1268946		1851	4018	5869	SO:0001819	synonymous_variant	727897				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	g.chr11:1268946C>T	U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"Mucins"	7516	protein-coding gene	gene with protein product		600770	"mucin 5, subtype B, tracheobronchial"	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.10836C>T	11.37:g.1268946C>T						MUC5B_ENST00000529681.1_Silent_p.P3612P|RP11-532E4.2_ENST00000532061.2_RNA	p.P3615P			Q9HC84	MUC5B_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)	31	10903	+		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	3612	Missing (in Ref. 6; AAB61398).		7 X Cys-rich subdomain repeats.|Thr-rich.		O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Silent	SNP	ENST00000529681.1	37	c.10845C>T	CCDS44515.2																																																																																				0.677	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093		5	149	0	0	0	1	0	5	149					T	1268946	C	T	1268946	2	4	305	1	0	0	0	0	0	0	0	1	9979	610	22	3		3	MUC5B	11	1268946	Silent	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	1830	1268946	133737570	598	15115											
CTSD	1509	broad.mit.edu	37	chr11	1780295	1780295	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acgtaggtgctggacttgtcGctgttgtacttgtggtggat	5	15	15	6	2	0	0	0	0	0	0	1	2	0	2	0	4	2	5	0	4	2	5			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr11:1780295G>A	ENST00000236671.2	-	4	507	c.375C>T	c.(373-375)agC>agT	p.S125S	RP11-295K3.1_ENST00000427721.1_5'Flank|AC068580.6_ENST00000449248.1_RNA	NM_001909.4	NP_001900.1	P07339	CATD_HUMAN	cathepsin D	125					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|autophagic vacuole assembly (GO:0000045)|cell death (GO:0008219)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)|mitochondrion (GO:0005739)	aspartic-type endopeptidase activity (GO:0004190)			endometrium(1)|large_intestine(4)|lung(8)	13		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00136)|Lung(200;0.0684)|LUSC - Lung squamous cell carcinoma(625;0.0822)	"""Insulin(DB00071)|Insulin Regular(DB00030)"	TGGACTTGTCGCTGTTGTACT	0.627																																						ENST00000236671.2																			0				endometrium(1)|large_intestine(4)|lung(8)	13						c.(373-375)agC>agT		cathepsin D	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)						326	271	290					11																	1780295		2202	4299	6501	SO:0001819	synonymous_variant	1509				cell death|proteolysis	extracellular space|lysosome|melanosome	aspartic-type endopeptidase activity	g.chr11:1780295G>A	M11233	CCDS7725.1	11p15.5	2009-06-26	2006-12-05		ENSG00000117984	ENSG00000117984	3.4.23.5	"Cathepsins"	2529	protein-coding gene	gene with protein product	"ceroid-lipofuscinosis, neuronal 10"	116840	"cathepsin D (lysosomal aspartyl protease)"	CPSD		3927292	Standard	NM_001909		Approved	CLN10	uc001luc.2	P07339	OTTHUMG00000044760	ENST00000236671.2:c.375C>T	11.37:g.1780295G>A							p.S125S	NM_001909.4	NP_001900.1	P07339	CATD_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00136)|Lung(200;0.0684)|LUSC - Lung squamous cell carcinoma(625;0.0822)	4	507	-		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	125					Q6IB57	Silent	SNP	ENST00000236671.2	37	c.375C>T	CCDS7725.1																																																																																				0.627	CTSD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000104272.5	NM_001909		79	180	0	0	0	1	0	79	180					A	1780295	G	A	1780295	2	1	305	1	0	0	0	0	0	0	0	1	4032	1078	38	1		1	CTSD	11	1780295	Silent	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	511349	1780295	133226221	599	15116											
CD81	975	broad.mit.edu	37	chr11	2416745	2416745	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctgtggtgaagaccttccacGagacggtgcggccccggggg	6	6	17	12	4	0	3	0	1	0	2	1	4	1	3	4	5	1	0	4	5	1	1	rs538164293		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr11:2416745G>A	ENST00000263645.5	+	5	710	c.454G>A	c.(454-456)Gag>Aag	p.E152K	CD81_ENST00000524805.1_3'UTR|CD81_ENST00000492627.1_Missense_Mutation_p.E81K|CD81_ENST00000381036.3_Missense_Mutation_p.E190K|CD81_ENST00000526072.1_Missense_Mutation_p.E81K|CD81_ENST00000481687.1_Missense_Mutation_p.E158K	NM_004356.3	NP_004347.1	P60033	CD81_HUMAN	CD81 molecule	152					activation of MAPK activity (GO:0000187)|cell proliferation (GO:0008283)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol metabolic process (GO:0046488)|positive regulation of 1-phosphatidylinositol 4-kinase activity (GO:0043128)|positive regulation of cell proliferation (GO:0008284)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|protein localization (GO:0008104)|receptor-mediated virion attachment to host cell (GO:0046813)|regulation of immune response (GO:0050776)|viral entry into host cell (GO:0046718)	extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|immunological synapse (GO:0001772)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	MHC class II protein complex binding (GO:0023026)			endometrium(1)|lung(3)|skin(1)	5		all_epithelial(84;0.000161)|Breast(177;0.000962)|Medulloblastoma(188;0.00106)|Ovarian(85;0.0014)|all_neural(188;0.0137)|Lung NSC(207;0.209)		BRCA - Breast invasive adenocarcinoma(625;0.000338)|LUSC - Lung squamous cell carcinoma(625;0.191)		GACCTTCCACGAGACGGTGCG	0.657													G|||	1	0.000199681	0	0	5008	,	,		13972	0		0.001	False		,,,				2504	0					ENST00000263645.5																			0				endometrium(1)|lung(3)|skin(1)	5						c.(454-456)Gag>Aag		CD81 molecule							64	61	62					11																	2416745		2201	4298	6499	SO:0001583	missense	975				activation of MAPK activity|cell proliferation|phosphatidylinositol biosynthetic process|positive regulation of 1-phosphatidylinositol 4-kinase activity|positive regulation of cell proliferation|positive regulation of peptidyl-tyrosine phosphorylation|protein localization|regulation of immune response|virion attachment, binding of host cell surface receptor	integral to plasma membrane	protein binding	g.chr11:2416745G>A		CCDS7734.1, CCDS73240.1	11p15.5	2014-09-17	2006-03-28		ENSG00000110651	ENSG00000110651		"CD molecules", "Tetraspanins"	1701	protein-coding gene	gene with protein product		186845	"CD81 antigen (target of antiproliferative antibody 1)"	TAPA1		1650385	Standard	XM_005253260		Approved	TAPA-1, TSPAN28	uc001lwf.1	P60033	OTTHUMG00000009892	ENST00000263645.5:c.454G>A	11.37:g.2416745G>A	ENSP00000263645:p.Glu152Lys					CD81_ENST00000381036.3_Missense_Mutation_p.E190K|CD81_ENST00000526072.1_Missense_Mutation_p.E81K|CD81_ENST00000481687.1_Missense_Mutation_p.E158K|CD81_ENST00000492627.1_Missense_Mutation_p.E81K|CD81_ENST00000524805.1_3'UTR	p.E152K	NM_004356.3	NP_004347.1	P60033	CD81_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.000338)|LUSC - Lung squamous cell carcinoma(625;0.191)	5	710	+		all_epithelial(84;0.000161)|Breast(177;0.000962)|Medulloblastoma(188;0.00106)|Ovarian(85;0.0014)|all_neural(188;0.0137)|Lung NSC(207;0.209)	152					P18582|Q5U0J6	Missense_Mutation	SNP	ENST00000263645.5	37	c.454G>A	CCDS7734.1	.	.	.	.	.	.	.	.	.	.	G	13.26	2.184139	0.38609	.	.	ENSG00000110651	ENST00000475945;ENST00000263645;ENST00000533417;ENST00000492627;ENST00000527343;ENST00000381036;ENST00000492252;ENST00000526072;ENST00000481687	T;T;D;T;T;T;T;T;T	0.86562	-1.26;-1.26;-2.14;-1.26;-1.26;-1.26;-1.26;-1.26;-1.26	3.65	3.65	0.41850	Tetraspanin, EC2 domain (1);CD81 extracellular domain (1);	0.118955	0.56097	D	0.000036	T	0.72969	0.3527	N	0.16903	0.455	0.80722	D	1	P;P	0.47545	0.897;0.811	B;B	0.39339	0.297;0.109	T	0.71328	-0.4626	10	0.11485	T	0.65	.	11.05	0.47880	0.0:0.0:1.0:0.0	.	190;152	A6NMH8;P60033	.;CD81_HUMAN	K	81;152;147;81;141;190;145;81;158	ENSP00000433178:E81K;ENSP00000263645:E152K;ENSP00000435633:E147K;ENSP00000437242:E81K;ENSP00000433767:E141K;ENSP00000370424:E190K;ENSP00000432249:E145K;ENSP00000431780:E81K;ENSP00000432033:E158K	ENSP00000263645:E152K	E	+	1	0	CD81	2373321	1.000000	0.71417	0.997000	0.53966	0.689000	0.40095	3.620000	0.54203	2.060000	0.61445	0.561000	0.74099	GAG		0.657	CD81-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027357.4	NM_004356		19	50	0	0	0	1	0	19	50					A	2416745	G	A	2416745	3	1	305	1	0	0	0	0	1	0	0	0	3039	1059	37	2	472	2	CD81	11	2416745	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	636450	2416745	132589771	600	15117											
OR52D1	390066	broad.mit.edu	37	chr11	5510727	5510727	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tgccttcttctccttcctcaCccaccgctttggtcaccacg	4	13	5	19	2	4	0	2	0	2	0	6	0	5	0	6	1	1	1	6	1	0	4			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr11:5510727C>T	ENST00000322641.5	+	1	813	c.791C>T	c.(790-792)aCc>aTc	p.T264I	HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380259.2_Intron|AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380252.1_Intron	NM_001005163.2	NP_001005163.1	Q9H346	O52D1_HUMAN	olfactory receptor, family 52, subfamily D, member 1	264					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	22		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;3.46e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TCCTTCCTCACCCACCGCTTT	0.507																																						ENST00000322641.5																			0				central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	22						c.(790-792)aCc>aTc		olfactory receptor, family 52, subfamily D, member 1							169	148	156					11																	5510727		2201	4297	6498	SO:0001583	missense	390066				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5510727C>T	BK004276	CCDS31384.1	11p15.4	2012-08-09			ENSG00000181609	ENSG00000181609		"GPCR / Class A : Olfactory receptors"	15212	protein-coding gene	gene with protein product							Standard	NM_001005163		Approved		uc010qzg.2	Q9H346	OTTHUMG00000066895	ENST00000322641.5:c.791C>T	11.37:g.5510727C>T	ENSP00000326232:p.Thr264Ile					AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380259.2_Intron|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron	p.T264I	NM_001005163.2	NP_001005163.1	Q9H346	O52D1_HUMAN		Epithelial(150;3.46e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	813	+		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)	264					B9EGY9|Q6IFI6	Missense_Mutation	SNP	ENST00000322641.5	37	c.791C>T	CCDS31384.1	.	.	.	.	.	.	.	.	.	.	C	15.29	2.791036	0.50102	.	.	ENSG00000181609	ENST00000322641	T	0.34859	1.34	5.47	5.47	0.80525	GPCR, rhodopsin-like superfamily (1);	0.084267	0.51477	D	0.000091	T	0.37785	0.1016	L	0.42686	1.345	0.09310	N	1	P	0.49696	0.927	P	0.50162	0.633	T	0.38866	-0.9641	10	0.72032	D	0.01	.	8.1556	0.31167	0.0:0.84:0.0:0.16	.	264	Q9H346	O52D1_HUMAN	I	264	ENSP00000326232:T264I	ENSP00000326232:T264I	T	+	2	0	OR52D1	5467303	0.000000	0.05858	0.983000	0.44433	0.912000	0.54170	-0.218000	0.09240	2.847000	0.97988	0.655000	0.94253	ACC		0.507	OR52D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143372.1	NM_001005163		36	71	0	0	0	1	0	36	71					T	5510727	C	T	5510727	3	4	305	1	0	0	0	0	1	0	0	0	11114	507	18	3	793	3	OR52D1	11	5510727	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	3093982	5510727	129495789	601	15118											
DNHD1	144132	broad.mit.edu	37	chr11	6519838	6519838	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gacctgctaggtgccattgtCcaggcctttcctccagacag	7	10	10	14	0	0	1	0	0	0	1	3	2	3	1	6	2	2	1	6	2	1	3			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr11:6519838C>A	ENST00000527990.2	+	1	393	c.393C>A	c.(391-393)gtC>gtA	p.V131V	DNHD1_ENST00000477562.1_3'UTR|DNHD1_ENST00000354685.3_Silent_p.V131V|DNHD1_ENST00000254579.6_Silent_p.V131V			Q96M86	DNHD1_HUMAN	dynein heavy chain domain 1	131					microtubule-based movement (GO:0007018)	dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)	microtubule motor activity (GO:0003777)			NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(13)|kidney(6)|large_intestine(11)|lung(14)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	55		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171)		Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		GTGCCATTGTCCAGGCCTTTC	0.587																																						ENST00000254579.6																			0				NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(13)|kidney(6)|large_intestine(11)|lung(14)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	55						c.(391-393)gtC>gtA		dynein heavy chain domain 1							142	139	140					11																	6519838		2201	4296	6497	SO:0001819	synonymous_variant	144132				microtubule-based movement	dynein complex	microtubule motor activity	g.chr11:6519838C>A	AK128064	CCDS44532.1, CCDS7767.1	11p15.4	2011-02-10		2005-11-28	ENSG00000179532	ENSG00000179532			26532	protein-coding gene	gene with protein product			"chromosome 11 open reading frame 47", "dynein heavy chain domain 1-like", "coiled-coil domain containing 35"	DHCD1, C11orf47, DNHD1L, CCDC35		12975309	Standard	NM_173589		Approved	FLJ32752, FLJ46184, FLJ35709, DKFZp686J0796	uc001mdw.4	Q96M86	OTTHUMG00000133403	ENST00000527990.2:c.393C>A	11.37:g.6519838C>A						DNHD1_ENST00000354685.3_Silent_p.V131V|DNHD1_ENST00000527990.2_Silent_p.V131V|DNHD1_ENST00000477562.1_3'UTR	p.V131V	NM_144666.2	NP_653267.2	Q96M86	DNHD1_HUMAN		Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)	3	957	+		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171)	131					Q2NKK8|Q6UWI9|Q8NAA2|Q8TEE6|Q9NSZ9	Silent	SNP	ENST00000527990.2	37	c.393C>A	CCDS44532.1																																																																																				0.587	DNHD1-007	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384673.2	NM_144666		8	221	1	0	0.000157383	1	0.000160498	8	221					A	6519838	C	A	6519838	2	1	305	1	0	0	0	0	0	0	0	1	4668	842	30	5		5	DNHD1	11	6519838	Silent	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	1009111	6519838	128486678	602	15119											
OR2D2	120776	broad.mit.edu	37	chr11	6913367	6913367	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gattgcagattgcaacatagCgatcataggacatcactgca	14	9	9	9	1	2	1	2	0	0	1	2	4	2	2	0	1	5	3	0	1	3	4			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr11:6913367C>T	ENST00000299459.2	-	1	463	c.365G>A	c.(364-366)cGc>cAc	p.R122H		NM_003700.1	NP_003691.1	Q9H210	OR2D2_HUMAN	olfactory receptor, family 2, subfamily D, member 2	122					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(3)|lung(9)|ovary(1)|skin(2)	18		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		TGCAACATAGCGATCATAGGA	0.488																																						ENST00000299459.2																			0				breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(3)|lung(9)|ovary(1)|skin(2)	18						c.(364-366)cGc>cAc		olfactory receptor, family 2, subfamily D, member 2							135	106	116					11																	6913367		2201	4296	6497	SO:0001583	missense	120776				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:6913367C>T	AB065824	CCDS31416.1	11p15.4	2012-08-09			ENSG00000166368	ENSG00000166368		"GPCR / Class A : Olfactory receptors"	8244	protein-coding gene	gene with protein product		608494		OR2D1		9787077	Standard	NM_003700		Approved	OR11-610, hg27	uc010rau.2	Q9H210	OTTHUMG00000165741	ENST00000299459.2:c.365G>A	11.37:g.6913367C>T	ENSP00000299459:p.Arg122His						p.R122H	NM_003700.1	NP_003691.1	Q9H210	OR2D2_HUMAN		Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)	1	463	-		Medulloblastoma(188;0.0523)|all_neural(188;0.236)	122					B9EIL5|O95224|Q6IF28|Q8NGH4|Q96R52	Missense_Mutation	SNP	ENST00000299459.2	37	c.365G>A	CCDS31416.1	.	.	.	.	.	.	.	.	.	.	c	19.54	3.847583	0.71603	.	.	ENSG00000166368	ENST00000299459	T	0.77489	-1.1	5.23	4.31	0.51392	GPCR, rhodopsin-like superfamily (1);	0.000000	0.44285	D	0.000478	D	0.88377	0.6420	M	0.84511	2.7	0.38442	D	0.946737	D	0.89917	1.0	D	0.91635	0.999	D	0.91207	0.4996	10	0.87932	D	0	-11.7507	13.3397	0.60538	0.1589:0.8411:0.0:0.0	.	122	Q9H210	OR2D2_HUMAN	H	122	ENSP00000299459:R122H	ENSP00000299459:R122H	R	-	2	0	OR2D2	6869943	1.000000	0.71417	0.689000	0.30133	0.984000	0.73092	4.635000	0.61332	1.573000	0.49748	0.645000	0.84053	CGC		0.488	OR2D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385986.1	NM_003700		30	74	0	0	0	1	0	30	74					T	6913367	C	T	6913367	3	4	305	1	0	0	0	0	1	0	0	0	10994	768	27	1	564	1	OR2D2	11	6913367	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	393529	6913367	128093149	603	15120											
AMPD3	272	broad.mit.edu	37	chr11	10503681	10503681	+	Silent	SNP	G	G	A																															atgatccgggagaagtatgcGcggctcgcctaccaccgctt																								rs147701905	byFrequency	TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr11:10503681G>A	ENST00000396554.3	+	4	866	c.525G>A	c.(523-525)gcG>gcA	p.A175A	AMPD3_ENST00000444303.2_Silent_p.A7A	NM_000480.2	NP_000471.1	Q01432	AMPD3_HUMAN	adenosine monophosphate deaminase 3	166					ADP metabolic process (GO:0046031)|AMP catabolic process (GO:0006196)|ATP metabolic process (GO:0046034)|energy homeostasis (GO:0097009)|IMP salvage (GO:0032264)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine-containing compound salvage (GO:0043101)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	AMP deaminase activity (GO:0003876)|metal ion binding (GO:0046872)	p.A175A(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(3)|skin(1)	25				all cancers(16;1.14e-08)|Epithelial(150;2.83e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0291)		AGAAGTATGCGCGGCTCGCCT	0.612													G|||	2	0.000399361	8e-04	0.0014	5008	,	,		18353	0		0	False		,,,				2504	0					ENST00000444303.2																			1	Substitution - coding silent(1)	p.A175A(1)	prostate(1)	central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(3)|skin(1)	25						c.(19-21)gcG>gcA		adenosine monophosphate deaminase 3		G	,,,,	2,4400	6.2+/-15.9	0,2,2199	109	115	113		525,498,519,498,21	-10.1	0	11	dbSNP_134	113	0,8588		0,0,4294	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	AMPD3	NM_000480.2,NM_001025389.1,NM_001025390.1,NM_001172430.1,NM_001172431.1	,,,,	0,2,6493	AA,AG,GG		0.0,0.0454,0.0154	,,,,	175/777,166/768,173/775,166/768,7/609	10503681	2,12988	2201	4294	6495	SO:0001819	synonymous_variant	272				AMP catabolic process|purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding	g.chr11:10503681G>A	M84722	CCDS7802.1, CCDS41617.1, CCDS44537.1, CCDS53601.1	11p15	2010-02-10	2010-02-10			ENSG00000133805	3.5.4.6		470	protein-coding gene	gene with protein product	"erythrocyte-specific AMP deaminase"	102772	"adenosine monophosphate deaminase (isoform E)"			1400401	Standard	NM_001172430		Approved		uc001min.1	Q01432		ENST00000396554.3:c.525G>A	11.37:g.10503681G>A						AMPD3_ENST00000396554.3_Silent_p.A175A	p.A7A	NM_001172431.1	NP_001165902.1	Q01432	AMPD3_HUMAN		all cancers(16;1.14e-08)|Epithelial(150;2.83e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0291)	3	493	+			166					A0AUX0|B7Z2S2|B7Z763|B7Z877	Silent	SNP	ENST00000396554.3	37	c.21G>A	CCDS7802.1																																																																																				0.612	AMPD3-001	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000385783.2	NM_000480		52	130	0	0	0	1	0	52	130					A	10503681	G	A	10503681	2	1	305	1	0	0	0	0	0	0	0	1	587	1074	38	1		1	AMPD3	11	10503681	Silent	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	3590314	10503681	124502835	604	15121	75	2									
AMPD3	272	broad.mit.edu	37	chr11	10503688	10503688	+	Missense_Mutation	SNP	G	G	A																															gggagaagtatgcgcggctcGcctaccaccgcttcccgcgg																										TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr11:10503688G>A	ENST00000396554.3	+	4	873	c.532G>A	c.(532-534)Gcc>Acc	p.A178T	AMPD3_ENST00000444303.2_Missense_Mutation_p.A10T	NM_000480.2	NP_000471.1	Q01432	AMPD3_HUMAN	adenosine monophosphate deaminase 3	169					ADP metabolic process (GO:0046031)|AMP catabolic process (GO:0006196)|ATP metabolic process (GO:0046034)|energy homeostasis (GO:0097009)|IMP salvage (GO:0032264)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine-containing compound salvage (GO:0043101)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	AMP deaminase activity (GO:0003876)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(3)|skin(1)	25				all cancers(16;1.14e-08)|Epithelial(150;2.83e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0291)		TGCGCGGCTCGCCTACCACCG	0.617																																						ENST00000444303.2																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(3)|skin(1)	25						c.(28-30)Gcc>Acc		adenosine monophosphate deaminase 3							96	101	100					11																	10503688		2201	4294	6495	SO:0001583	missense	272				AMP catabolic process|purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding	g.chr11:10503688G>A	M84722	CCDS7802.1, CCDS41617.1, CCDS44537.1, CCDS53601.1	11p15	2010-02-10	2010-02-10			ENSG00000133805	3.5.4.6		470	protein-coding gene	gene with protein product	"erythrocyte-specific AMP deaminase"	102772	"adenosine monophosphate deaminase (isoform E)"			1400401	Standard	NM_001172430		Approved		uc001min.1	Q01432		ENST00000396554.3:c.532G>A	11.37:g.10503688G>A	ENSP00000379802:p.Ala178Thr					AMPD3_ENST00000396554.3_Missense_Mutation_p.A178T	p.A10T	NM_001172431.1	NP_001165902.1	Q01432	AMPD3_HUMAN		all cancers(16;1.14e-08)|Epithelial(150;2.83e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0291)	3	500	+			169					A0AUX0|B7Z2S2|B7Z763|B7Z877	Missense_Mutation	SNP	ENST00000396554.3	37	c.28G>A	CCDS7802.1	.	.	.	.	.	.	.	.	.	.	G	26.7	4.761455	0.89932	.	.	ENSG00000133805	ENST00000444303;ENST00000396554;ENST00000524866;ENST00000396553;ENST00000528723;ENST00000529507	T;T;T;T;T;T	0.52983	0.64;0.64;0.64;0.64;0.64;0.64	5.88	5.88	0.94601	.	0.000000	0.85682	D	0.000000	T	0.69033	0.3066	M	0.83012	2.62	0.58432	D	0.999999	D;P;D	0.67145	0.996;0.92;0.996	P;B;P	0.57057	0.812;0.425;0.812	T	0.71833	-0.4473	10	0.59425	D	0.04	-18.7518	20.2422	0.98381	0.0:0.0:1.0:0.0	.	176;169;178	B7Z763;Q01432;A0AUX0	.;AMPD3_HUMAN;.	T	10;178;169;169;176;169	ENSP00000396000:A10T;ENSP00000379802:A178T;ENSP00000433284:A169T;ENSP00000379801:A169T;ENSP00000436987:A176T;ENSP00000431648:A169T	ENSP00000379801:A169T	A	+	1	0	AMPD3	10460264	1.000000	0.71417	0.968000	0.41197	0.300000	0.27592	6.488000	0.73637	2.782000	0.95742	0.655000	0.94253	GCC		0.617	AMPD3-001	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000385783.2	NM_000480		46	121	0	0	0	1	0	46	121					A	10503688	G	A	10503688	3	1	305	1	0	0	0	0	1	0	0	0	587	1087	38	1	566	1	AMPD3	11	10503688	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	7	10503688	124502828	605	15122	75	2									
CTR9	9646	broad.mit.edu	37	chr11	10786119	10786119	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	attttttggcgtcattggacCgtgcaaaagcagaagcggaa	12	10	12	7	3	1	1	1	0	0	1	1	3	1	3	1	3	3	2	1	3	4	4			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr11:10786119C>T	ENST00000361367.2	+	12	1864	c.1438C>T	c.(1438-1440)Cgt>Tgt	p.R480C		NM_014633.3	NP_055448.1	Q6PD62	CTR9_HUMAN	CTR9, Paf1/RNA polymerase II complex component	480					cellular response to lipopolysaccharide (GO:0071222)|endodermal cell fate commitment (GO:0001711)|histone H2B ubiquitination (GO:0033523)|histone H3-K4 trimethylation (GO:0080182)|histone monoubiquitination (GO:0010390)|interleukin-6-mediated signaling pathway (GO:0070102)|JAK-STAT cascade (GO:0007259)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of histone H3-K79 methylation (GO:2001162)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	Cdc73/Paf1 complex (GO:0016593)|transcriptionally active chromatin (GO:0035327)				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(12)|ovary(2)|pancreas(1)|stomach(1)	40				all cancers(16;1.64e-07)|Epithelial(150;2.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)		GTCATTGGACCGTGCAAAAGC	0.373																																						ENST00000361367.2																			0				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(12)|ovary(2)|pancreas(1)|stomach(1)	40						c.(1438-1440)Cgt>Tgt		CTR9, Paf1/RNA polymerase II complex component							77	70	72					11																	10786119		2201	4294	6495	SO:0001583	missense	9646				histone H2B ubiquitination|histone monoubiquitination	Cdc73/Paf1 complex|nuclear speck		g.chr11:10786119C>T	D63875	CCDS7805.1	11p15.3	2013-07-03	2013-07-03	2006-05-22	ENSG00000198730	ENSG00000198730		"Tetratricopeptide (TTC) repeat domain containing"	16850	protein-coding gene	gene with protein product		609366	"SH2 domain binding protein 1 (tetratricopeptide repeat containing)", "Ctr9, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae)"	SH2BP1		8590280, 8636124	Standard	NM_014633		Approved	KIAA0155, TSBP, p150TSP	uc001mja.3	Q6PD62	OTTHUMG00000165789	ENST00000361367.2:c.1438C>T	11.37:g.10786119C>T	ENSP00000355013:p.Arg480Cys						p.R480C	NM_014633.3	NP_055448.1	Q6PD62	CTR9_HUMAN		all cancers(16;1.64e-07)|Epithelial(150;2.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)	12	1864	+			480					D3DQV8|Q15015	Missense_Mutation	SNP	ENST00000361367.2	37	c.1438C>T	CCDS7805.1	.	.	.	.	.	.	.	.	.	.	C	16.54	3.151961	0.57151	.	.	ENSG00000198730	ENST00000361367	T	0.18174	2.23	5.88	4.97	0.65823	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.85682	D	0.000000	T	0.36166	0.0957	L	0.56769	1.78	0.80722	D	1	D	0.89917	1.0	D	0.63703	0.917	T	0.09271	-1.0682	10	0.54805	T	0.06	-12.9489	15.2103	0.73219	0.0:0.9324:0.0:0.0676	.	480	Q6PD62	CTR9_HUMAN	C	480	ENSP00000355013:R480C	ENSP00000355013:R480C	R	+	1	0	CTR9	10742695	1.000000	0.71417	1.000000	0.80357	0.738000	0.42128	2.938000	0.48987	1.488000	0.48433	0.655000	0.94253	CGT		0.373	CTR9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386215.1	NM_014633		7	30	0	0	0	1	0	7	30					T	10786119	C	T	10786119	3	4	305	1	0	0	0	0	1	0	0	0	4024	652	23	2	1484	2	CTR9	11	10786119	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	282431	10786119	124220397	606	15123											
SOX6	55553	broad.mit.edu	37	chr11	16340073	16340073	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggcaagactccctttgcggcGctctggggttccaaaagtaa	9	9	12	11	2	1	1	0	0	1	1	3	1	3	1	2	4	1	4	2	4	4	3			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr11:16340073G>A	ENST00000352083.6	-	3	441	c.364C>T	c.(364-366)Cgc>Tgc	p.R122C	SOX6_ENST00000396356.3_Missense_Mutation_p.R122C|SOX6_ENST00000528252.1_Missense_Mutation_p.R122C|SOX6_ENST00000533658.1_5'UTR|SOX6_ENST00000316399.6_Missense_Mutation_p.R122C|SOX6_ENST00000528429.1_Missense_Mutation_p.R122C|SOX6_ENST00000527619.1_Missense_Mutation_p.R125C			P35712	SOX6_HUMAN	SRY (sex determining region Y)-box 6	122					astrocyte differentiation (GO:0048708)|cardiac muscle cell differentiation (GO:0055007)|cartilage development (GO:0051216)|cell morphogenesis (GO:0000902)|cellular response to transforming growth factor beta stimulus (GO:0071560)|erythrocyte development (GO:0048821)|gene silencing (GO:0016458)|in utero embryonic development (GO:0001701)|muscle organ development (GO:0007517)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|oligodendrocyte cell fate specification (GO:0021778)|positive regulation of cartilage development (GO:0061036)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of mesenchymal stem cell differentiation (GO:2000741)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic development (GO:0009791)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)	p.R122C(1)		NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|pancreas(1)|prostate(2)	43						CCTTTGCGGCGCTCTGGGGTT	0.502																																						ENST00000352083.6																			1	Substitution - Missense(1)	p.R122C(1)	large_intestine(1)	NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|pancreas(1)|prostate(2)	43						c.(364-366)Cgc>Tgc		SRY (sex determining region Y)-box 6							196	183	187					11																	16340073		2200	4294	6494	SO:0001583	missense	55553				muscle organ development	nucleus	sequence-specific DNA binding transcription factor activity	g.chr11:16340073G>A	AF309034	CCDS7821.1, CCDS53604.1, CCDS53605.1	11p15.3	2008-02-05						"SRY (sex determining region Y)-boxes"	16421	protein-coding gene	gene with protein product		607257				11255018	Standard	NM_033326		Approved		uc001mme.3	P35712		ENST00000352083.6:c.364C>T	11.37:g.16340073G>A	ENSP00000339876:p.Arg122Cys					SOX6_ENST00000527619.1_Missense_Mutation_p.R125C|SOX6_ENST00000528429.1_Missense_Mutation_p.R122C|SOX6_ENST00000528252.1_Missense_Mutation_p.R122C|SOX6_ENST00000316399.6_Missense_Mutation_p.R122C|SOX6_ENST00000396356.3_Missense_Mutation_p.R122C|SOX6_ENST00000533658.1_5'UTR	p.R122C			P35712	SOX6_HUMAN			3	441	-			122					Q86VX7|Q9BXQ3|Q9BXQ4|Q9BXQ5|Q9H0I8	Missense_Mutation	SNP	ENST00000352083.6	37	c.364C>T		.	.	.	.	.	.	.	.	.	.	G	32	5.126131	0.94429	.	.	ENSG00000110693	ENST00000316399;ENST00000352083;ENST00000396356;ENST00000528252;ENST00000527619;ENST00000528429;ENST00000533411;ENST00000526673	D;D;D;D;D;D	0.98947	-5.26;-5.22;-5.26;-4.94;-4.94;-5.22	5.28	5.28	0.74379	.	0.063248	0.64402	D	0.000006	D	0.99067	0.9680	M	0.76574	2.34	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.999;0.998;0.999;1.0;0.995	D	0.99875	1.1102	10	0.87932	D	0	.	19.2735	0.94021	0.0:0.0:1.0:0.0	.	122;122;122;122;125	E9PQ78;E9PQL4;P35712-3;P35712;P35712-2	.;.;.;SOX6_HUMAN;.	C	122;122;122;122;125;122;122;122	ENSP00000324948:R122C;ENSP00000339876:R122C;ENSP00000379644:R122C;ENSP00000432134:R122C;ENSP00000434455:R125C;ENSP00000433233:R122C	ENSP00000324948:R122C	R	-	1	0	SOX6	16296649	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.341000	0.97041	2.632000	0.89209	0.591000	0.81541	CGC		0.502	SOX6-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000386811.1	NM_033326		71	151	0	0	0	1	0	71	151					A	16340073	G	A	16340073	3	1	305	1	0	0	0	0	1	0	0	0	14955	1087	38	1	2220	1	SOX6	11	16340073	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	5553954	16340073	118666443	607	15124											
HPS5	11234	broad.mit.edu	37	chr11	18332308	18332308	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttgcttgtttagaagtatTgagtttgatagcagaaacct	11	16	9	5	0	0	4	0	2	0	2	0	4	0	4	1	0	3	5	1	0	5	8			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr11:18332308T>A	ENST00000349215.3	-	5	734	c.457A>T	c.(457-459)Aat>Tat	p.N153Y	HPS5_ENST00000396253.3_Missense_Mutation_p.N39Y|HPS5_ENST00000438420.2_Missense_Mutation_p.N39Y|HPS5_ENST00000531848.1_Missense_Mutation_p.N39Y	NM_181507.1	NP_852608.1	Q9UPZ3	HPS5_HUMAN	Hermansky-Pudlak syndrome 5	153					blood coagulation (GO:0007596)|organelle organization (GO:0006996)|pigmentation (GO:0043473)	BLOC-2 complex (GO:0031084)				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						TTAGAAGTATTGAGTTTGATA	0.398									Hermansky-Pudlak syndrome																													ENST00000396253.3																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						c.(115-117)Aat>Tat		Hermansky-Pudlak syndrome 5							107	111	110					11																	18332308		2199	4293	6492	SO:0001583	missense	11234	Hermansky-Pudlak syndrome	Familial Cancer Database	HPS, HPS1-8		cytosol		g.chr11:18332308T>A	AB023234	CCDS7836.1, CCDS7837.1	11p14	2014-06-18			ENSG00000110756	ENSG00000110756			17022	protein-coding gene	gene with protein product		607521				10231032, 10094488	Standard	NM_181507		Approved		uc001mod.1	Q9UPZ3	OTTHUMG00000166612	ENST00000349215.3:c.457A>T	11.37:g.18332308T>A	ENSP00000265967:p.Asn153Tyr					HPS5_ENST00000349215.3_Missense_Mutation_p.N153Y|HPS5_ENST00000531848.1_Missense_Mutation_p.N39Y|HPS5_ENST00000438420.2_Missense_Mutation_p.N39Y	p.N39Y	NM_007216.3	NP_009147.3	Q9UPZ3	HPS5_HUMAN			4	577	-			153					A8K6J8|A8K8S1|D3DQX9|D3DQY0|O95942|Q8N4U0	Missense_Mutation	SNP	ENST00000349215.3	37	c.115A>T	CCDS7836.1	.	.	.	.	.	.	.	.	.	.	T	16.10	3.026486	0.54683	.	.	ENSG00000110756	ENST00000396253;ENST00000438420;ENST00000349215;ENST00000531848	T;T;T;T	0.64085	0.42;0.42;-0.08;1.45	5.55	5.55	0.83447	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.195562	0.56097	D	0.000040	T	0.66268	0.2772	L	0.60455	1.87	0.43444	D	0.99562	P	0.44090	0.826	P	0.46362	0.514	T	0.70547	-0.4842	10	0.72032	D	0.01	.	15.8527	0.78947	0.0:0.0:0.0:1.0	.	153	Q9UPZ3	HPS5_HUMAN	Y	39;39;153;39	ENSP00000379552:N39Y;ENSP00000399590:N39Y;ENSP00000265967:N153Y;ENSP00000431758:N39Y	ENSP00000265967:N153Y	N	-	1	0	HPS5	18288884	1.000000	0.71417	0.990000	0.47175	0.842000	0.47809	3.763000	0.55257	2.330000	0.79161	0.477000	0.44152	AAT		0.398	HPS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390808.1	NM_181507		22	50	0	0	0	1	0	22	50					A	18332308	T	A	18332308	3	1	305	1	0	0	0	0	1	0	0	0	7342	1812	63	5	3008	5	HPS5	11	18332308	Missense_Mutation	SNP	T	TCGA-KK-A59V-01A-11D-A29Q-08	1992235	18332308	116674208	608	15125											
MRGPRX1	259249	broad.mit.edu	37	chr11	18956195	18956195	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaggagccagagcacaactGcgtttcctgtcagcccgaca	10	6	10	15	2	1	1	1	0	0	1	2	3	2	2	4	1	5	2	4	1	1	1			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr11:18956195G>A	ENST00000302797.3	-	1	361	c.137C>T	c.(136-138)gCa>gTa	p.A46V	MRGPRX1_ENST00000526914.1_5'UTR|RP11-583F24.8_ENST00000528646.1_RNA	NM_147199.3	NP_671732.3	Q96LB2	MRGX1_HUMAN	MAS-related GPR, member X1	46					acute-phase response (GO:0006953)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|pancreas(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						GAGCACAACTGCGTTTCCTGT	0.582																																						ENST00000302797.3																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|pancreas(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						c.(136-138)gCa>gTa		MAS-related GPR, member X1							170	161	164					11																	18956195		2194	4287	6481	SO:0001583	missense	259249				acute-phase response	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr11:18956195G>A		CCDS7846.1	11p15.1	2013-10-10			ENSG00000170255	ENSG00000170255		"GPCR / Class A : Orphans"	17962	protein-coding gene	gene with protein product		607227				11551509	Standard	NM_147199		Approved	MRGX1	uc001mpg.3	Q96LB2	OTTHUMG00000162655	ENST00000302797.3:c.137C>T	11.37:g.18956195G>A	ENSP00000305766:p.Ala46Val					MRGPRX1_ENST00000526914.1_5'UTR	p.A46V	NM_147199.3	NP_671732.3	Q96LB2	MRGX1_HUMAN			1	361	-			46					Q4V9L2|Q8TDD8|Q8TDD9	Missense_Mutation	SNP	ENST00000302797.3	37	c.137C>T	CCDS7846.1	.	.	.	.	.	.	.	.	.	.	.	14.44	2.535966	0.45176	.	.	ENSG00000170255	ENST00000302797	T	0.09538	2.97	2.43	-0.891	0.10573	GPCR, rhodopsin-like superfamily (1);	0.959312	0.08638	N	0.915990	T	0.18299	0.0439	M	0.70842	2.15	0.09310	N	1	P	0.44344	0.833	P	0.49085	0.6	T	0.20974	-1.0259	10	0.59425	D	0.04	.	5.8184	0.18514	0.1241:0.3731:0.5028:0.0	.	46	Q96LB2	MRGX1_HUMAN	V	46	ENSP00000305766:A46V	ENSP00000305766:A46V	A	-	2	0	MRGPRX1	18912771	0.000000	0.05858	0.001000	0.08648	0.048000	0.14542	-0.447000	0.06828	-0.196000	0.10366	0.491000	0.48974	GCA		0.582	MRGPRX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369913.1	NM_147199		73	357	0	0	0	1	0	73	357					A	18956195	G	A	18956195	3	1	305	1	0	0	0	0	1	0	0	0	9766	1319	46	3	835	3	MRGPRX1	11	18956195	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	623887	18956195	116050321	609	15126											
TTC17	55761	broad.mit.edu	37	chr11	43465702	43465702	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtcagatagaaaatggacatCgttaccaagcaaacctagag	17	7	9	8	1	1	3	1	0	0	3	2	4	1	4	2	1	3	2	2	1	7	3			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr11:43465702C>T	ENST00000039989.4	+	18	2622	c.2608C>T	c.(2608-2610)Cgt>Tgt	p.R870C	TTC17_ENST00000299240.6_Missense_Mutation_p.R927C|TTC17_ENST00000526774.1_3'UTR	NM_018259.5	NP_060729.2	Q96AE7	TTC17_HUMAN	tetratricopeptide repeat domain 17	870					actin filament polymerization (GO:0030041)|cilium organization (GO:0044782)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)		p.R870C(1)		breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(27)|ovary(5)|prostate(3)|skin(3)	53						AAATGGACATCGTTACCAAGC	0.408																																						ENST00000039989.4																			1	Substitution - Missense(1)	p.R870C(1)	skin(1)	breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(27)|ovary(5)|prostate(3)|skin(3)	53						c.(2608-2610)Cgt>Tgt		tetratricopeptide repeat domain 17							84	82	83					11																	43465702		2203	4300	6503	SO:0001583	missense	55761						binding	g.chr11:43465702C>T	AK001540	CCDS31466.1	11p11.2	2013-01-10			ENSG00000052841	ENSG00000052841		"Tetratricopeptide (TTC) repeat domain containing"	25596	protein-coding gene	gene with protein product						12477932	Standard	NM_018259		Approved	FLJ10890	uc001mxi.3	Q96AE7	OTTHUMG00000166398	ENST00000039989.4:c.2608C>T	11.37:g.43465702C>T	ENSP00000039989:p.Arg870Cys					TTC17_ENST00000526774.1_3'UTR|TTC17_ENST00000299240.6_Missense_Mutation_p.R927C	p.R870C	NM_018259.5	NP_060729.2	Q96AE7	TTC17_HUMAN			18	2622	+			870					G3XAB3|Q8NEC0	Missense_Mutation	SNP	ENST00000039989.4	37	c.2608C>T	CCDS31466.1	.	.	.	.	.	.	.	.	.	.	C	14.26	2.481735	0.44147	.	.	ENSG00000052841	ENST00000299240;ENST00000039989	T;T	0.32515	1.45;1.45	6.05	4.16	0.48862	.	0.367696	0.31963	N	0.006784	T	0.22936	0.0554	N	0.14661	0.345	0.09310	N	1	D;P;D	0.67145	0.994;0.937;0.996	P;B;P	0.53549	0.54;0.27;0.729	T	0.05920	-1.0856	10	0.37606	T	0.19	-4.0673	3.351	0.07153	0.1271:0.5284:0.2007:0.1437	.	927;870;927	Q8NEC0;Q96AE7;G3XAB3	.;TTC17_HUMAN;.	C	927;870	ENSP00000299240:R927C;ENSP00000039989:R870C	ENSP00000039989:R870C	R	+	1	0	TTC17	43422278	0.001000	0.12720	0.643000	0.29450	0.951000	0.60555	0.977000	0.29475	0.860000	0.35481	0.650000	0.86243	CGT		0.408	TTC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389577.2	NM_018259		17	39	0	0	0	1	0	17	39					T	43465702	C	T	43465702	3	4	305	1	0	0	0	0	1	0	0	0	16681	884	31	2	2678	2	TTC17	11	43465702	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	24509507	43465702	91540814	610	15127											
ACCSL	390110	broad.mit.edu	37	chr11	44079911	44079911	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaccaattgctaccggctcCgggaagctcacaagtacatc	11	7	8	15	2	1	0	1	0	0	0	3	1	2	1	4	2	4	4	4	2	5	3	rs372214310		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr11:44079911C>T	ENST00000378832.1	+	12	1428	c.1372C>T	c.(1372-1374)Cgg>Tgg	p.R458W		NM_001031854.2	NP_001027025.2	Q4AC99	1A1L2_HUMAN	1-aminocyclopropane-1-carboxylate synthase homolog (Arabidopsis)(non-functional)-like	458					biosynthetic process (GO:0009058)		catalytic activity (GO:0003824)|pyridoxal phosphate binding (GO:0030170)			central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(14)|ovary(5)|pancreas(1)|skin(2)	34						CTACCGGCTCCGGGAAGCTCA	0.463																																						ENST00000378832.1																			0				central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(14)|ovary(5)|pancreas(1)|skin(2)	34						c.(1372-1374)Cgg>Tgg		1-aminocyclopropane-1-carboxylate synthase homolog (Arabidopsis)(non-functional)-like		C	TRP/ARG	3,3851		0,3,1924	101	100	100		1372	0.3	0.1	11		100	0,8264		0,0,4132	no	missense	ACCSL	NM_001031854.2	101	0,3,6056	TT,TC,CC		0.0,0.0778,0.0248	probably-damaging	458/569	44079911	3,12115	1927	4132	6059	SO:0001583	missense	390110						1-aminocyclopropane-1-carboxylate synthase activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups	g.chr11:44079911C>T		CCDS41636.1	11p11.2	2008-11-26			ENSG00000205126	ENSG00000205126			34391	protein-coding gene	gene with protein product							Standard	NM_001031854		Approved		uc001mxw.1	Q4AC99	OTTHUMG00000166426	ENST00000378832.1:c.1372C>T	11.37:g.44079911C>T	ENSP00000368109:p.Arg458Trp						p.R458W	NM_001031854.2	NP_001027025.2	Q4AC99	1A1L2_HUMAN			12	1428	+			458						Missense_Mutation	SNP	ENST00000378832.1	37	c.1372C>T	CCDS41636.1	.	.	.	.	.	.	.	.	.	.	C	11.68	1.709713	0.30322	7.78E-4	0.0	ENSG00000205126	ENST00000378832	D	0.90732	-2.72	4.71	0.314	0.15847	Aminotransferase, class I/classII (1);Pyridoxal phosphate-dependent transferase, major region, subdomain 2 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.521065	0.20874	N	0.084104	D	0.87884	0.6290	M	0.78049	2.395	0.09310	N	1	B	0.28419	0.211	B	0.27608	0.081	T	0.81197	-0.1042	10	0.87932	D	0	-0.2954	7.0029	0.24820	0.425:0.4899:0.0:0.0851	.	458	Q4AC99	1A1L2_HUMAN	W	458	ENSP00000368109:R458W	ENSP00000368109:R458W	R	+	1	2	ACCSL	44036487	0.074000	0.21230	0.121000	0.21740	0.006000	0.05464	0.794000	0.26958	0.265000	0.21872	0.655000	0.94253	CGG		0.463	ACCSL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389717.1	NM_001031854		4	99	0	0	0	1	0	4	99					T	44079911	C	T	44079911	3	4	305	1	0	0	0	0	1	0	0	0	134	643	23	2	1418	2	ACCSL	11	44079911	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	614209	44079911	90926605	611	15128											
ACCS	84680	broad.mit.edu	37	chr11	44098898	44098898	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtgtctctatggcaacatccGgctggcctatgtctacctgg	6	12	11	12	1	2	0	0	0	2	0	4	0	3	0	3	4	2	2	3	4	4	3			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr11:44098898G>A	ENST00000263776.8	+	7	1060	c.626G>A	c.(625-627)cGg>cAg	p.R209Q	ACCS_ENST00000533208.1_3'UTR|ACCS_ENST00000432284.2_3'UTR	NM_001127219.1|NM_032592.3	NP_001120691.1|NP_115981.1	Q96QU6	1A1L1_HUMAN	1-aminocyclopropane-1-carboxylate synthase homolog (Arabidopsis)(non-functional)	209					biosynthetic process (GO:0009058)		catalytic activity (GO:0003824)|protein homodimerization activity (GO:0042803)|pyridoxal phosphate binding (GO:0030170)			breast(4)|endometrium(3)|large_intestine(11)|lung(15)|ovary(1)|skin(1)	35						GGCAACATCCGGCTGGCCTAT	0.567																																					Esophageal Squamous(158;148 1889 8077 23160 41213)	ENST00000263776.8																			0				breast(4)|endometrium(3)|large_intestine(11)|lung(15)|ovary(1)|skin(1)	35						c.(625-627)cGg>cAg		1-aminocyclopropane-1-carboxylate synthase homolog (Arabidopsis)(non-functional)							163	148	153					11																	44098898		2203	4300	6503	SO:0001583	missense	84680						1-aminocyclopropane-1-carboxylate synthase activity|protein homodimerization activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups	g.chr11:44098898G>A	AY026508	CCDS7907.1	11p11	2008-03-12	2008-01-28		ENSG00000110455	ENSG00000110455			23989	protein-coding gene	gene with protein product		608405				11470512	Standard	NM_032592		Approved	PHACS, ACS	uc009yks.1	Q96QU6	OTTHUMG00000166427	ENST00000263776.8:c.626G>A	11.37:g.44098898G>A	ENSP00000263776:p.Arg209Gln					ACCS_ENST00000432284.2_3'UTR|ACCS_ENST00000533208.1_3'UTR	p.R209Q	NM_001127219.1|NM_032592.3	NP_001120691.1|NP_115981.1	Q96QU6	1A1L1_HUMAN			7	1060	+			209					B4E219|Q8WUL4|Q96LX5	Missense_Mutation	SNP	ENST00000263776.8	37	c.626G>A	CCDS7907.1	.	.	.	.	.	.	.	.	.	.	G	7.740	0.701178	0.15172	.	.	ENSG00000110455	ENST00000263776	T	0.22945	1.93	4.88	1.94	0.25998	Aminotransferase, class I/classII (1);Pyridoxal phosphate-dependent transferase, major region, subdomain 2 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.330236	0.29198	N	0.012856	T	0.06462	0.0166	N	0.00996	-1.065	0.80722	D	1	B	0.27853	0.191	B	0.20955	0.032	T	0.25012	-1.0144	10	0.13853	T	0.58	-0.8238	7.5434	0.27753	0.4088:0.0:0.5912:0.0	.	209	Q96QU6	1A1L1_HUMAN	Q	209	ENSP00000263776:R209Q	ENSP00000263776:R209Q	R	+	2	0	ACCS	44055474	0.995000	0.38212	0.987000	0.45799	0.071000	0.16799	2.724000	0.47285	0.483000	0.27608	0.557000	0.71058	CGG		0.567	ACCS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389721.1	NM_032592		55	164	0	0	0	1	0	55	164					A	44098898	G	A	44098898	3	1	305	1	0	0	0	0	1	0	0	0	133	1116	39	2	648	2	ACCS	11	44098898	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	18987	44098898	90907618	612	15129											
CRY2	1408	broad.mit.edu	37	chr11	45893726	45893726	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacctggtgaagaactcagcAaacgggcccgggtggcagag	11	4	15	11	2	1	3	1	1	0	2	1	3	1	3	2	4	3	2	2	4	3	0			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr11:45893726A>G	ENST00000443527.2	+	11	1811	c.1789A>G	c.(1789-1791)Aaa>Gaa	p.K597E	CRY2_ENST00000417225.2_Missense_Mutation_p.K515E	NM_021117.3	NP_066940.2	Q49AN0	CRY2_HUMAN	cryptochrome circadian clock 2	576					blue light signaling pathway (GO:0009785)|circadian regulation of gene expression (GO:0032922)|circadian rhythm (GO:0007623)|DNA repair (GO:0006281)|entrainment of circadian clock by photoperiod (GO:0043153)|glucose homeostasis (GO:0042593)|negative regulation of circadian rhythm (GO:0042754)|negative regulation of glucocorticoid receptor signaling pathway (GO:2000323)|negative regulation of phosphoprotein phosphatase activity (GO:0032515)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|protein-chromophore linkage (GO:0018298)|regulation of circadian rhythm (GO:0042752)|regulation of sodium-dependent phosphate transport (GO:2000118)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|nucleus (GO:0005634)	blue light photoreceptor activity (GO:0009882)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|DNA photolyase activity (GO:0003913)|FAD binding (GO:0071949)|phosphatase binding (GO:0019902)|single-stranded DNA binding (GO:0003697)|transcription factor binding transcription factor activity (GO:0000989)|transcription regulatory region sequence-specific DNA binding (GO:0000976)|ubiquitin binding (GO:0043130)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(2)	15						AGAACTCAGCAAACGGGCCCG	0.597																																					Esophageal Squamous(106;91 1499 8126 12599 39610)	ENST00000443527.2																			0				NS(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(2)	15						c.(1789-1791)Aaa>Gaa		cryptochrome 2 (photolyase-like)							57	59	59					11																	45893726		2203	4299	6502	SO:0001583	missense	1408				DNA repair|protein-chromophore linkage|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	blue light photoreceptor activity|damaged DNA binding|DNA photolyase activity|nucleotide binding|protein binding|single-stranded DNA binding	g.chr11:45893726A>G	AB014558	CCDS7915.2, CCDS44576.1	11p11.2	2014-01-17	2014-01-17		ENSG00000121671	ENSG00000121671			2385	protein-coding gene	gene with protein product		603732	"cryptochrome 2 (photolyase-like)"			8909283	Standard	NM_021117		Approved		uc010rgn.2	Q49AN0	OTTHUMG00000153225	ENST00000443527.2:c.1789A>G	11.37:g.45893726A>G	ENSP00000406751:p.Lys597Glu					CRY2_ENST00000417225.2_Missense_Mutation_p.K515E	p.K597E	NM_021117.3	NP_066940.2	Q49AN0	CRY2_HUMAN			11	1811	+			576					B4DH32|B4DZD6|O75148|Q8IV71	Missense_Mutation	SNP	ENST00000443527.2	37	c.1789A>G	CCDS7915.2	.	.	.	.	.	.	.	.	.	.	A	15.97	2.989958	0.54041	.	.	ENSG00000121671	ENST00000417225;ENST00000443527	.	.	.	5.29	5.29	0.74685	.	0.451231	0.25529	N	0.030058	T	0.25457	0.0619	L	0.27053	0.805	0.31641	N	0.648036	B;P;B	0.38827	0.063;0.649;0.058	B;B;B	0.31547	0.012;0.132;0.027	T	0.31668	-0.9935	9	0.35671	T	0.21	-14.878	9.0142	0.36159	0.9183:0.0:0.0816:0.0	.	576;597;515	Q49AN0;B4DZD6;Q49AN0-2	CRY2_HUMAN;.;.	E	515;597	.	ENSP00000397419:K515E	K	+	1	0	CRY2	45850302	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.801000	0.69115	2.008000	0.58898	0.533000	0.62120	AAA		0.597	CRY2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000330235.2	NM_021117		25	64	0	0	0	1	0	25	64					G	45893726	A	G	45893726	3	3	305	1	0	0	0	0	1	0	0	0	3904	131	5	4	1867	4	CRY2	11	45893726	Missense_Mutation	SNP	A	TCGA-KK-A59V-01A-11D-A29Q-08	1794828	45893726	89112790	613	15130											
LRP4	4038	broad.mit.edu	37	chr11	46921856	46921856	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctcacagtcgttgtccccGtcacacacccaggagcggcg	7	7	10	17	4	2	0	2	0	0	0	5	1	4	1	4	2	1	1	4	2	0	1	rs150401820		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr11:46921856G>A	ENST00000378623.1	-	3	515	c.273C>T	c.(271-273)gaC>gaT	p.D91D		NM_002334.3	NP_002325.2	O75096	LRP4_HUMAN	low density lipoprotein receptor-related protein 4	91	LDL-receptor class A 2. {ECO:0000255|PROSITE-ProRule:PRU00124}.				dendrite morphogenesis (GO:0048813)|dorsal/ventral pattern formation (GO:0009953)|embryonic digit morphogenesis (GO:0042733)|endocytosis (GO:0006897)|extracellular matrix organization (GO:0030198)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|limb development (GO:0060173)|negative regulation of axonogenesis (GO:0050771)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of ossification (GO:0030279)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of presynaptic membrane organization (GO:1901631)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|protein heterotetramerization (GO:0051290)|proximal/distal pattern formation (GO:0009954)|regulation of protein phosphorylation (GO:0001932)|skeletal muscle acetylcholine-gated channel clustering (GO:0071340)|synapse organization (GO:0050808)|synaptic growth at neuromuscular junction (GO:0051124)|Wnt signaling pathway (GO:0016055)	cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|postsynaptic density (GO:0014069)|synaptic membrane (GO:0097060)	calcium ion binding (GO:0005509)|receptor tyrosine kinase binding (GO:0030971)|scaffold protein binding (GO:0097110)			breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70				Lung(87;0.159)		CGTTGTCCCCGTCACACACCC	0.522													G|||	1	0.000199681	0	0.0014	5008	,	,		20553	0		0	False		,,,				2504	0					ENST00000378623.1																			0				breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70						c.(271-273)gaC>gaT		low density lipoprotein receptor-related protein 4		G		2,4400	4.2+/-10.8	0,2,2199	126	111	116		273	-10.9	0.3	11	dbSNP_134	116	1,8597	1.2+/-3.3	0,1,4298	no	coding-synonymous	LRP4	NM_002334.3		0,3,6497	AA,AG,GG		0.0116,0.0454,0.0231		91/1906	46921856	3,12997	2201	4299	6500	SO:0001819	synonymous_variant	4038				endocytosis|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to membrane	calcium ion binding|receptor activity	g.chr11:46921856G>A	AB011540	CCDS31478.1	11p11.2	2013-05-29			ENSG00000134569	ENSG00000134569		"Low density lipoprotein receptors"	6696	protein-coding gene	gene with protein product		604270				9693030	Standard	NM_002334		Approved	MEGF7, CLSS, LRP-4, SOST2	uc001ndn.4	O75096	OTTHUMG00000166700	ENST00000378623.1:c.273C>T	11.37:g.46921856G>A							p.D91D	NM_002334.3	NP_002325.2	O75096	LRP4_HUMAN		Lung(87;0.159)	3	515	-			91			LDL-receptor class A 2.		B2RN39|Q4AC85|Q5KTZ5	Silent	SNP	ENST00000378623.1	37	c.273C>T	CCDS31478.1																																																																																				0.522	LRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391133.1	NM_002334		23	73	0	0	0	1	0	23	73					A	46921856	G	A	46921856	2	1	305	1	0	0	0	0	0	0	0	1	8959	1136	40	1		1	LRP4	11	46921856	Silent	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	1028130	46921856	88084660	614	15131											
MYBPC3	4607	broad.mit.edu	37	chr11	47360137	47360137	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttcactgtgaccgtgtagaCgccctcatcttccttctctg	5	14	7	15	2	4	2	2	1	2	1	6	2	5	2	3	0	0	1	3	0	1	4			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr11:47360137C>T	ENST00000545968.1	-	23	2296	c.2242G>A	c.(2242-2244)Gtc>Atc	p.V748I	MYBPC3_ENST00000256993.4_Missense_Mutation_p.V747I|MYBPC3_ENST00000399249.2_Missense_Mutation_p.V748I	NM_000256.3	NP_000247.2	Q14896	MYPC3_HUMAN	myosin binding protein C, cardiac	748	Ig-like C2-type 5.				cardiac muscle contraction (GO:0060048)|cell adhesion (GO:0007155)|heart morphogenesis (GO:0003007)|muscle filament sliding (GO:0030049)|myosin filament assembly (GO:0031034)|positive regulation of ATPase activity (GO:0032781)|regulation of heart rate (GO:0002027)|regulation of muscle filament sliding (GO:0032971)|regulation of striated muscle contraction (GO:0006942)|sarcomere organization (GO:0045214)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	A band (GO:0031672)|C zone (GO:0014705)|cytosol (GO:0005829)|sarcomere (GO:0030017)|striated muscle myosin thick filament (GO:0005863)	ATPase activator activity (GO:0001671)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|myosin binding (GO:0017022)|myosin heavy chain binding (GO:0032036)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(4)|lung(16)|ovary(3)|prostate(3)|urinary_tract(2)	42				Lung(87;0.176)		ACCGTGTAGACGCCCTCATCT	0.637																																						ENST00000545968.1																			0				breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(4)|lung(16)|ovary(3)|prostate(3)|urinary_tract(2)	42						c.(2242-2244)Gtc>Atc		myosin binding protein C, cardiac							87	93	91					11																	47360137		2112	4213	6325	SO:0001583	missense	4607				cardiac muscle contraction|cell adhesion|muscle filament sliding|regulation of muscle filament sliding|regulation of striated muscle contraction|ventricular cardiac muscle tissue morphogenesis	C zone|cytosol|striated muscle myosin thick filament	actin binding|ATPase activator activity|metal ion binding|myosin heavy chain binding|structural constituent of muscle|titin binding	g.chr11:47360137C>T	X84075	CCDS53621.1	11p11.2	2014-09-17	2001-11-28			ENSG00000134571		"Myosin binding proteins", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	7551	protein-coding gene	gene with protein product		600958	"myosin-binding protein C, cardiac"	CMH4		7744002, 8358441	Standard	NM_000256		Approved	MYBP-C, FHC	uc021qis.1	Q14896		ENST00000545968.1:c.2242G>A	11.37:g.47360137C>T	ENSP00000442795:p.Val748Ile					MYBPC3_ENST00000399249.2_Missense_Mutation_p.V748I|MYBPC3_ENST00000256993.4_Missense_Mutation_p.V747I	p.V748I	NM_000256.3	NP_000247.2	Q14896	MYPC3_HUMAN		Lung(87;0.176)	23	2296	-			747			Ig-like C2-type 5.		A5PL00|Q16410|Q6R2F7|Q9UE27|Q9UM53	Missense_Mutation	SNP	ENST00000545968.1	37	c.2242G>A	CCDS53621.1	.	.	.	.	.	.	.	.	.	.	C	14.64	2.594828	0.46318	.	.	ENSG00000134571	ENST00000545968;ENST00000399249;ENST00000256993	T;T;T	0.66638	-0.22;-0.22;-0.22	5.4	3.54	0.40534	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.51601	0.1684	N	0.25332	0.735	0.42866	D	0.994129	B	0.14012	0.009	B	0.14578	0.011	T	0.38672	-0.9650	9	0.27082	T	0.32	.	11.9375	0.52882	0.0:0.859:0.0:0.141	.	747	Q14896	MYPC3_HUMAN	I	748;748;747	ENSP00000442795:V748I;ENSP00000382193:V748I;ENSP00000256993:V747I	ENSP00000256993:V747I	V	-	1	0	MYBPC3	47316713	0.381000	0.25140	0.910000	0.35882	0.904000	0.53231	1.130000	0.31393	0.662000	0.31006	-0.244000	0.11960	GTC		0.637	MYBPC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000392271.3			13	45	0	0	0	1	0	13	45					T	47360137	C	T	47360137	3	4	305	1	0	0	0	0	1	0	0	0	10013	536	19	1	1630	1	MYBPC3	11	47360137	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	438281	47360137	87646379	615	15132											
OR4C46	119749	broad.mit.edu	37	chr11	51515877	51515877	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gctggaactcttcattgctgCcaacagtggattcatctgct	8	13	9	11	0	4	0	2	0	2	0	4	2	4	2	1	2	5	3	1	2	2	3			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr11:51515877C>T	ENST00000328188.1	+	1	596	c.596C>T	c.(595-597)gCc>gTc	p.A199V		NM_001004703.1	NP_001004703.1	A6NHA9	O4C46_HUMAN	olfactory receptor, family 4, subfamily C, member 46	199						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(5)|large_intestine(5)|lung(31)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	48						TTCATTGCTGCCAACAGTGGA	0.483																																						ENST00000328188.1																			0				endometrium(5)|large_intestine(5)|lung(31)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	48						c.(595-597)gCc>gTc		olfactory receptor, family 4, subfamily C, member 46							133	116	121					11																	51515877		2201	4296	6497	SO:0001583	missense	119749				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:51515877C>T		CCDS73288.1	11p11.12	2012-08-09			ENSG00000185926	ENSG00000185926		"GPCR / Class A : Olfactory receptors"	31271	protein-coding gene	gene with protein product		614273					Standard	NM_001004703		Approved		uc010ric.2	A6NHA9	OTTHUMG00000166705	ENST00000328188.1:c.596C>T	11.37:g.51515877C>T	ENSP00000329056:p.Ala199Val						p.A199V	NM_001004703.1	NP_001004703.1	A6NHA9	O4C46_HUMAN			1	596	+			199						Missense_Mutation	SNP	ENST00000328188.1	37	c.596C>T	CCDS31498.1	.	.	.	.	.	.	.	.	.	.	.	10.49	1.365220	0.24684	.	.	ENSG00000185926	ENST00000328188	T	0.00031	8.89	2.47	1.53	0.23141	GPCR, rhodopsin-like superfamily (1);	0.000000	0.45361	D	0.000361	T	0.00144	0.0004	N	0.25485	0.75	0.25303	N	0.989266	P	0.40476	0.718	P	0.45506	0.483	T	0.33343	-0.9872	10	0.54805	T	0.06	.	5.3229	0.15891	0.0:0.8252:0.0:0.1748	.	199	A6NHA9	O4C46_HUMAN	V	199	ENSP00000329056:A199V	ENSP00000329056:A199V	A	+	2	0	OR4C46	51372453	0.032000	0.19561	0.978000	0.43139	0.038000	0.13279	0.348000	0.20031	0.404000	0.25506	0.121000	0.15741	GCC		0.483	OR4C46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391155.1	NM_001004703		8	102	0	0	0	1	0	8	102					T	51515877	C	T	51515877	3	4	305	1	0	0	0	0	1	0	0	0	11051	739	26	3	598	3	OR4C46	11	51515877	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	4155740	51515877	83490639	616	15133											
TRIM48	79097	broad.mit.edu	37	chr11	55036727	55036727	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tttccttgcaggagtgagtcCgtgctgctgcacatgcccca	6	11	11	13	1	0	1	0	1	0	0	2	2	2	2	4	1	5	4	4	1	0	2			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr11:55036727C>T	ENST00000417545.2	+	5	674	c.588C>T	c.(586-588)tcC>tcT	p.S196S		NM_024114.3	NP_077019.2	Q8IWZ4	TRI48_HUMAN	tripartite motif containing 48	180						intracellular (GO:0005622)	zinc ion binding (GO:0008270)			endometrium(13)|lung(19)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						GGAGTGAGTCCGTGCTGCTGC	0.468																																						ENST00000417545.2																			0				endometrium(13)|lung(19)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						c.(586-588)tcC>tcT		tripartite motif containing 48							30	26	28					11																	55036727		2081	3940	6021	SO:0001819	synonymous_variant	79097					intracellular	zinc ion binding	g.chr11:55036727C>T	AF521869	CCDS7947.2	11q12	2013-01-09	2011-01-25		ENSG00000150244	ENSG00000150244		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	19021	protein-coding gene	gene with protein product			"tripartite motif-containing 48"				Standard	NM_024114		Approved	RNF101	uc010rid.2	Q8IWZ4	OTTHUMG00000157011	ENST00000417545.2:c.588C>T	11.37:g.55036727C>T							p.S196S	NM_024114.3	NP_077019.2	Q8IWZ4	TRI48_HUMAN			5	674	+			180					Q9BUW4	Silent	SNP	ENST00000417545.2	37	c.588C>T	CCDS7947.2																																																																																				0.468	TRIM48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347088.1			16	40	0	0	0	1	0	16	40					T	55036727	C	T	55036727	2	4	305	1	0	0	0	0	0	0	0	1	16520	639	23	2		2	TRIM48	11	55036727	Silent	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	3520850	55036727	79969789	617	15134											
OR9G1	390174	broad.mit.edu	37	chr11	56467959	56467959	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcttcgtggtgttcctgggCgtgtactctctcactgtggt	2	16	12	11	2	3	0	1	0	2	0	6	0	4	0	1	3	1	2	1	3	1	3			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr11:56467959C>T	ENST00000312153.1	+	1	96	c.96C>T	c.(94-96)ggC>ggT	p.G32G		NM_001005213.1	NP_001005213.1	Q8NH87	OR9G1_HUMAN	olfactory receptor, family 9, subfamily G, member 1	32						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|kidney(1)|lung(25)|stomach(2)|upper_aerodigestive_tract(1)	31						TGTTCCTGGGCGTGTACTCTC	0.502																																						ENST00000312153.1																			0				breast(2)|kidney(1)|lung(25)|stomach(2)|upper_aerodigestive_tract(1)	31						c.(94-96)ggC>ggT		olfactory receptor, family 9, subfamily G, member 1							181	157	165					11																	56467959		2201	4296	6497	SO:0001819	synonymous_variant	390174							g.chr11:56467959C>T	AB065500	CCDS31536.1	11q11	2012-08-09			ENSG00000174914	ENSG00000174914		"GPCR / Class A : Olfactory receptors"	15319	protein-coding gene	gene with protein product				OR9G5			Standard	NM_001005213		Approved			Q8NH87	OTTHUMG00000167112	ENST00000312153.1:c.96C>T	11.37:g.56467959C>T							p.G32G	NM_001005213.1	NP_001005213.1					1	96	+								Q6IEU9|Q8NGQ0	Silent	SNP	ENST00000312153.1	37	c.96C>T	CCDS31536.1																																																																																				0.502	OR9G1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393253.1	NM_001005213		24	113	0	0	0	1	0	24	113					T	56467959	C	T	56467959	2	4	305	1	0	0	0	0	0	0	0	1	11250	755	27	1		1	OR9G1	11	56467959	Silent	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	1431232	56467959	78538557	618	15135											
PATL1	219988	broad.mit.edu	37	chr11	59415348	59415348	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	caaccattctcttcccttttCggatacacatgatctgtaca	10	14	4	13	1	2	1	0	1	2	0	5	2	3	2	2	1	3	1	2	1	3	6			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr11:59415348C>T	ENST00000300146.9	-	15	1856	c.1772G>A	c.(1771-1773)cGa>cAa	p.R591Q		NM_152716.2	NP_689929.2	Q86TB9	PATL1_HUMAN	protein associated with topoisomerase II homolog 1 (yeast)	591	Involved in nuclear spleckles localization.|Region C.				cytoplasmic mRNA processing body assembly (GO:0033962)|deadenylation-dependent decapping of nuclear-transcribed mRNA (GO:0000290)|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|poly(G) binding (GO:0034046)|poly(U) RNA binding (GO:0008266)|RNA binding (GO:0003723)			central_nervous_system(1)|endometrium(2)|lung(5)|ovary(1)|prostate(2)	11						CTTCCCTTTTCGGATACACAT	0.443																																						ENST00000300146.9																			0				central_nervous_system(1)|endometrium(2)|lung(5)|ovary(1)|prostate(2)	11						c.(1771-1773)cGa>cAa		protein associated with topoisomerase II homolog 1 (yeast)							105	97	100					11																	59415348		1924	4142	6066	SO:0001583	missense	219988				cytoplasmic mRNA processing body assembly|deadenylation-dependent decapping of nuclear-transcribed mRNA	cytoplasmic mRNA processing body	protein binding|RNA binding	g.chr11:59415348C>T	AK094193	CCDS44613.1	11q12.1	2012-06-07	2007-10-18		ENSG00000166889	ENSG00000166889			26721	protein-coding gene	gene with protein product		614660				17936923	Standard	NM_152716		Approved	FLJ36874, Pat1b	uc001noe.4	Q86TB9	OTTHUMG00000167423	ENST00000300146.9:c.1772G>A	11.37:g.59415348C>T	ENSP00000300146:p.Arg591Gln						p.R591Q	NM_152716.2	NP_689929.2	Q86TB9	PATL1_HUMAN			15	1856	-			591			Region C.		B3KXT9|Q2TA86|Q6P166|Q8N9M6|Q8NI63	Missense_Mutation	SNP	ENST00000300146.9	37	c.1772G>A	CCDS44613.1	.	.	.	.	.	.	.	.	.	.	C	24.2	4.505448	0.85282	.	.	ENSG00000166889	ENST00000300146;ENST00000428532	T	0.52295	0.67	6.05	6.05	0.98169	.	0.000000	0.85682	D	0.000000	T	0.67258	0.2874	L	0.60455	1.87	0.80722	D	1	D;D	0.76494	0.998;0.999	D;D	0.75484	0.986;0.98	T	0.61569	-0.7036	10	0.40728	T	0.16	-12.2094	20.2117	0.98287	0.0:1.0:0.0:0.0	.	561;591	Q86TB9-4;Q86TB9	.;PATL1_HUMAN	Q	591;561	ENSP00000300146:R591Q	ENSP00000300146:R591Q	R	-	2	0	PATL1	59171924	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.380000	0.79704	2.878000	0.98634	0.650000	0.86243	CGA		0.443	PATL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394559.1	NM_152716		12	47	0	0	0	1	0	12	47					T	59415348	C	T	59415348	3	4	305	1	0	0	0	0	1	0	0	0	11475	884	31	2	560	2	PATL1	11	59415348	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	2947389	59415348	75591168	619	15136											
CCDC86	79080	broad.mit.edu	37	chr11	60615458	60615458	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggcagcggaagatgaaggaaCgacaggagaggaagctggcc	14	2	18	7	2	0	3	0	1	0	2	0	8	0	6	1	6	3	2	1	6	4	0			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr11:60615458C>T	ENST00000227520.5	+	2	874	c.820C>T	c.(820-822)Cga>Tga	p.R274*	RP11-804A23.4_ENST00000538705.1_RNA|CCDC86_ENST00000545580.1_Nonsense_Mutation_p.R18*	NM_024098.3	NP_077003.1	Q9H6F5	CCD86_HUMAN	coiled-coil domain containing 86	274					viral process (GO:0016032)	nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(1)|large_intestine(2)|liver(2)|lung(2)|urinary_tract(3)	10						GATGAAGGAACGACAGGAGAG	0.632																																						ENST00000227520.5																			0				endometrium(1)|large_intestine(2)|liver(2)|lung(2)|urinary_tract(3)	10						c.(820-822)Cga>Tga		coiled-coil domain containing 86							105	97	99					11																	60615458		2203	4299	6502	SO:0001587	stop_gained	79080				interspecies interaction between organisms	nucleus		g.chr11:60615458C>T	AK025974	CCDS7993.1	11q12.2	2006-03-16			ENSG00000110104	ENSG00000110104			28359	protein-coding gene	gene with protein product		611293					Standard	NM_024098		Approved	MGC2574	uc001nqa.2	Q9H6F5	OTTHUMG00000167706	ENST00000227520.5:c.820C>T	11.37:g.60615458C>T	ENSP00000227520:p.Arg274*					RP11-804A23.4_ENST00000538705.1_RNA|CCDC86_ENST00000545580.1_Nonsense_Mutation_p.R18*	p.R274*	NM_024098.3	NP_077003.1	Q9H6F5	CCD86_HUMAN			2	874	+			274					B4DY99	Nonsense_Mutation	SNP	ENST00000227520.5	37	c.820C>T	CCDS7993.1	.	.	.	.	.	.	.	.	.	.	C	37	6.078522	0.97262	.	.	ENSG00000110104	ENST00000227520;ENST00000545580	.	.	.	5.3	4.37	0.52481	.	0.154071	0.43919	D	0.000513	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-16.1532	9.8929	0.41300	0.1571:0.6913:0.1516:0.0	.	.	.	.	X	274;18	.	ENSP00000227520:R274X	R	+	1	2	CCDC86	60372034	0.996000	0.38824	0.962000	0.40283	0.901000	0.52897	1.892000	0.39748	1.179000	0.42884	0.591000	0.81541	CGA		0.632	CCDC86-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395743.1	NM_024098		50	114	0	0	0	1	0	50	114					T	60615458	C	T	60615458	4	4	305	1	0	0	0	0	0	1	0	0	2861	528	19	1	826	1	CCDC86	11	60615458	Nonsense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	1200110	60615458	74391058	620	15137											
INCENP	3619	broad.mit.edu	37	chr11	61914294	61914294	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cggcgcgagcaggagcggcgGgagcaggagcggcgcgagca	8	0	22	11	8	0	0	0	0	0	0	0	5	0	3	0	6	5	3	0	6	0	0	rs374721937	byFrequency	TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr11:61914294G>C	ENST00000394818.3	+	15	2326	c.2124G>C	c.(2122-2124)cgG>cgC	p.R708R	INCENP_ENST00000278849.4_Silent_p.R704R	NM_001040694.1	NP_001035784.1	Q9NQS7	INCE_HUMAN	inner centromere protein antigens 135/155kDa	708					chromosome segregation (GO:0007059)|cytokinesis (GO:0000910)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	central element (GO:0000801)|chromocenter (GO:0010369)|chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|kinetochore (GO:0000776)|lateral element (GO:0000800)|microtubule (GO:0005874)|midbody (GO:0030496)|pericentric heterochromatin (GO:0005721)|protein complex (GO:0043234)|spindle (GO:0005819)				breast(1)|endometrium(1)|kidney(6)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						aggagcggcgggagcaggagc	0.756													G|||	10	0.00199681	0.0061	0.0029	5008	,	,		11587	0		0	False		,,,				2504	0					ENST00000394818.3																			0				breast(1)|endometrium(1)|kidney(6)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						c.(2122-2124)cgG>cgC		inner centromere protein antigens 135/155kDa							3	5	5					11																	61914294		1897	3823	5720	SO:0001819	synonymous_variant	3619				chromosome segregation|cytokinesis|mitotic prometaphase	centromeric heterochromatin|condensed chromosome kinetochore|cytosol|microtubule|spindle	protein binding	g.chr11:61914294G>C	AF282265	CCDS31582.1, CCDS44624.1	11q12.3	2013-01-17	2002-08-29		ENSG00000149503	ENSG00000149503			6058	protein-coding gene	gene with protein product		604411	"inner centromere protein antigens (135kD, 155kD)"			1860899, 11453556	Standard	NM_001040694		Approved	FLJ31633	uc001nsw.1	Q9NQS7	OTTHUMG00000167470	ENST00000394818.3:c.2124G>C	11.37:g.61914294G>C						INCENP_ENST00000278849.4_Silent_p.R704R	p.R708R	NM_001040694.1	NP_001035784.1	Q9NQS7	INCE_HUMAN			15	2326	+			708					A8MQD2|Q5Y192	Silent	SNP	ENST00000394818.3	37	c.2124G>C	CCDS44624.1																																																																																				0.756	INCENP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000394723.2	NM_020238		3	0	0	0	0	1	0	3	0					C	61914294	G	C	61914294	2	2	305	1	0	0	0	0	0	0	0	1	7733	1219	43	5		5	INCENP	11	61914294	Silent	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	1298836	61914294	73092222	621	15138											
LRRN4CL	221091	broad.mit.edu	37	chr11	62455621	62455621	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctgcgcagcctcgctgccGtcccaaagcagcagccagta	8	7	10	16	3	1	0	0	0	1	0	3	0	2	0	4	0	6	5	4	0	2	2			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr11:62455621G>A	ENST00000317449.4	-	2	837	c.360C>T	c.(358-360)gaC>gaT	p.D120D		NM_203422.2	NP_981967.1	Q8ND94	LRN4L_HUMAN	LRRN4 C-terminal like	120	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.					integral component of membrane (GO:0016021)		p.D120D(1)		cervix(1)|kidney(1)	2						CCTCGCTGCCGTCCCAAAGCA	0.657																																						ENST00000317449.4																			1	Substitution - coding silent(1)	p.D120D(1)	cervix(1)	cervix(1)|kidney(1)	2						c.(358-360)gaC>gaT		LRRN4 C-terminal like							12	14	13					11																	62455621		2121	4166	6287	SO:0001819	synonymous_variant	221091					integral to membrane		g.chr11:62455621G>A	AK291334	CCDS8030.1	11q12.3	2013-02-11				ENSG00000177363		"Fibronectin type III domain containing"	33724	protein-coding gene	gene with protein product							Standard	NM_203422		Approved		uc001nun.3	Q8ND94		ENST00000317449.4:c.360C>T	11.37:g.62455621G>A							p.D120D	NM_203422.2	NP_981967.1	Q8ND94	LRN4L_HUMAN			2	837	-			120			Fibronectin type-III.		A8K5L9	Silent	SNP	ENST00000317449.4	37	c.360C>T	CCDS8030.1																																																																																				0.657	LRRN4CL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395168.1	NM_203422		13	34	0	0	0	1	0	13	34					A	62455621	G	A	62455621	2	1	305	1	0	0	0	0	0	0	0	1	9038	1136	40	1		1	LRRN4CL	11	62455621	Silent	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	541327	62455621	72550895	622	15139											
MARK2	2011	broad.mit.edu	37	chr11	63672512	63672512	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gttcacctccaagtttgtacGcaggtaagcaaggagctttg	10	11	11	9	1	1	0	1	0	0	0	2	1	2	1	2	2	3	7	2	2	4	5			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr11:63672512G>A	ENST00000509502.2	+	16	2292	c.1829G>A	c.(1828-1830)cGc>cAc	p.R610H	MARK2_ENST00000502399.3_Missense_Mutation_p.R643H|MARK2_ENST00000350490.7_Missense_Mutation_p.R589H|MARK2_ENST00000402010.2_Missense_Mutation_p.R644H|MARK2_ENST00000413835.2_Missense_Mutation_p.R590H|MARK2_ENST00000315032.8_Missense_Mutation_p.R644H|MARK2_ENST00000377810.3_Missense_Mutation_p.R556H|MARK2_ENST00000513765.2_Missense_Mutation_p.R611H|MARK2_ENST00000361128.5_Missense_Mutation_p.R590H|MARK2_ENST00000508192.1_Missense_Mutation_p.R589H|MARK2_ENST00000425897.2_Missense_Mutation_p.R564H|MARK2_ENST00000408948.3_Missense_Mutation_p.R556H|MARK2_ENST00000377809.4_Missense_Mutation_p.R644H	NM_017490.3	NP_059672.2			MAP/microtubule affinity-regulating kinase 2											autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33						AAGTTTGTACGCAGGTAAGCA	0.632																																						ENST00000402010.2																			0				autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33						c.(1930-1932)cGc>cAc		MAP/microtubule affinity-regulating kinase 2							61	72	68					11																	63672512		2196	4293	6489	SO:0001583	missense	2011				cell differentiation|establishment or maintenance of epithelial cell apical/basal polarity|intracellular protein kinase cascade|multicellular organismal development|response to oxidative stress	plasma membrane	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity	g.chr11:63672512G>A	BC008771	CCDS8051.1, CCDS41665.1, CCDS8051.2, CCDS53649.1, CCDS53650.1, CCDS53651.1	11q13.1	2013-06-27	2002-07-26	2002-08-01	ENSG00000072518	ENSG00000072518			3332	protein-coding gene	gene with protein product	"ELKL motif kinase 1", "serine/threonine kinase", "protein-serine/threonine kinase", "Ser/Thr protein kinase PAR-1B"	600526	"ELKL motif kinase"	EMK1		9730619, 10516437	Standard	NM_017490		Approved	PAR-1, Par1b, PAR-1B	uc001nxw.3	Q7KZI7	OTTHUMG00000160504	ENST00000509502.2:c.1829G>A	11.37:g.63672512G>A	ENSP00000423974:p.Arg610His					MARK2_ENST00000509502.2_Missense_Mutation_p.R610H|MARK2_ENST00000361128.5_Missense_Mutation_p.R590H|MARK2_ENST00000315032.8_Missense_Mutation_p.R644H|MARK2_ENST00000350490.7_Missense_Mutation_p.R589H|MARK2_ENST00000502399.3_Missense_Mutation_p.R643H|MARK2_ENST00000508192.1_Missense_Mutation_p.R589H|MARK2_ENST00000408948.3_Missense_Mutation_p.R556H|MARK2_ENST00000377809.4_Missense_Mutation_p.R644H|MARK2_ENST00000377810.3_Missense_Mutation_p.R556H|MARK2_ENST00000413835.2_Missense_Mutation_p.R590H|MARK2_ENST00000425897.2_Missense_Mutation_p.R564H|MARK2_ENST00000513765.2_Missense_Mutation_p.R611H	p.R644H	NM_001039469.2	NP_001034558.2	Q7KZI7	MARK2_HUMAN			16	2510	+			644						Missense_Mutation	SNP	ENST00000509502.2	37	c.1931G>A	CCDS41665.1	.	.	.	.	.	.	.	.	.	.	g	16.23	3.065575	0.55539	.	.	ENSG00000072518	ENST00000402010;ENST00000315032;ENST00000377809;ENST00000413835;ENST00000377810;ENST00000508192;ENST00000361128;ENST00000350490;ENST00000502399;ENST00000509502;ENST00000513765;ENST00000408948;ENST00000425897	T;T;T;T;T;T;T;T;T;T;T;T	0.75821	0.41;0.41;0.41;0.41;0.41;0.41;0.41;-0.97;0.41;0.41;0.41;0.41	4.5	3.57	0.40892	.	0.060735	0.64402	D	0.000003	D	0.83510	0.5270	M	0.72118	2.19	0.80722	D	1	D;D;D;D;D;D	0.89917	0.999;1.0;1.0;0.999;0.996;1.0	P;D;D;D;P;D	0.80764	0.879;0.955;0.969;0.994;0.858;0.988	D	0.84840	0.0807	10	0.72032	D	0.01	.	11.7078	0.51607	0.0888:0.0:0.9112:0.0	.	564;610;589;590;644;589	E7ETY4;Q7KZI7-14;Q7KZI7-15;Q7KZI7-5;Q7KZI7;Q7KZI7-16	.;.;.;.;MARK2_HUMAN;.	H	644;644;644;590;556;589;590;589;645;610;611;556;564	ENSP00000385751:R644H;ENSP00000326632:R644H;ENSP00000367040:R644H;ENSP00000389184:R590H;ENSP00000367041:R556H;ENSP00000425765:R589H;ENSP00000355091:R590H;ENSP00000294247:R589H;ENSP00000423974:R610H;ENSP00000421075:R611H;ENSP00000386128:R556H;ENSP00000415494:R564H	ENSP00000326632:R644H	R	+	2	0	MARK2	63429088	1.000000	0.71417	1.000000	0.80357	0.864000	0.49448	9.654000	0.98509	1.248000	0.43934	0.450000	0.29827	CGC		0.632	MARK2-003	NOVEL	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000360862.2	NM_017490		60	132	0	0	0	1	0	60	132					A	63672512	G	A	63672512	3	1	305	1	0	0	0	0	1	0	0	0	9313	1087	38	1	1993	1	MARK2	11	63672512	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	1216891	63672512	71334004	623	15140											
MARK2	283248	broad.mit.edu	37	chr11	63676558	63676558	+	IGR	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgctgtgcatgcacggcaCgccgggccacgaggacttcg	6	6	15	14	5	0	0	0	0	0	0	1	2	0	1	2	3	3	5	2	3	0	1			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr11:63676558C>T	ENST00000301459.4	-	0	2604				MARK2_ENST00000502399.3_Missense_Mutation_p.T729M|MARK2_ENST00000350490.7_Missense_Mutation_p.T660M|MARK2_ENST00000402010.2_Missense_Mutation_p.T739M|RCOR2_ENST00000473926.2_5'Flank|MARK2_ENST00000413835.2_Missense_Mutation_p.T685M|MARK2_ENST00000315032.8_Missense_Mutation_p.T730M|MARK2_ENST00000377810.3_Missense_Mutation_p.T642M|MARK2_ENST00000513765.2_Missense_Mutation_p.T706M|MARK2_ENST00000361128.5_Missense_Mutation_p.T670M|MARK2_ENST00000508192.1_Missense_Mutation_p.T675M|MARK2_ENST00000509502.2_Missense_Mutation_p.T696M|MARK2_ENST00000425897.2_Missense_Mutation_p.T650M|MARK2_ENST00000408948.3_Missense_Mutation_p.T642M|MARK2_ENST00000377809.4_Missense_Mutation_p.T724M	NM_173587.3	NP_775858.2	Q8IZ40	RCOR2_HUMAN	REST corepressor 2						negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	chromatin (GO:0000785)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			kidney(2)|large_intestine(3)|liver(1)|lung(5)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	17						ATGCACGGCACGCCGGGCCAC	0.612																																						ENST00000402010.2																			0				autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33						c.(2215-2217)aCg>aTg		MAP/microtubule affinity-regulating kinase 2							93	81	85					11																	63676558		2201	4297	6498	SO:0001628	intergenic_variant	2011				cell differentiation|establishment or maintenance of epithelial cell apical/basal polarity|intracellular protein kinase cascade|multicellular organismal development|response to oxidative stress	plasma membrane	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity	g.chr11:63676558C>T	BC010608	CCDS8052.1	11q13.1	2008-02-05			ENSG00000167771	ENSG00000167771			27455	protein-coding gene	gene with protein product						12477932	Standard	NM_173587		Approved		uc001nyc.3	Q8IZ40	OTTHUMG00000150472		11.37:g.63676558C>T						MARK2_ENST00000509502.2_Missense_Mutation_p.T696M|MARK2_ENST00000361128.5_Missense_Mutation_p.T670M|MARK2_ENST00000315032.8_Missense_Mutation_p.T730M|MARK2_ENST00000350490.7_Missense_Mutation_p.T660M|MARK2_ENST00000502399.3_Missense_Mutation_p.T729M|MARK2_ENST00000508192.1_Missense_Mutation_p.T675M|MARK2_ENST00000408948.3_Missense_Mutation_p.T642M|MARK2_ENST00000377809.4_Missense_Mutation_p.T724M|MARK2_ENST00000377810.3_Missense_Mutation_p.T642M|MARK2_ENST00000413835.2_Missense_Mutation_p.T685M|MARK2_ENST00000425897.2_Missense_Mutation_p.T650M|MARK2_ENST00000513765.2_Missense_Mutation_p.T706M	p.T739M	NM_001039469.2	NP_001034558.2	Q7KZI7	MARK2_HUMAN			19	2795	+			739			KA1.		Q96FP3	Missense_Mutation	SNP	ENST00000301459.4	37	c.2216C>T	CCDS8052.1	.	.	.	.	.	.	.	.	.	.	C	18.84	3.710278	0.68730	.	.	ENSG00000072518	ENST00000402010;ENST00000315032;ENST00000377809;ENST00000413835;ENST00000377810;ENST00000508192;ENST00000361128;ENST00000350490;ENST00000502399;ENST00000509502;ENST00000513765;ENST00000408948;ENST00000425897	T;T;T;T;T;T;T;T;T;T;T;T	0.42900	0.96;0.96;0.96;0.96;0.96;0.96;0.96;0.96;0.96;0.96;0.96;0.96	4.43	4.43	0.53597	Kinase-associated KA1 (3);	0.373958	0.24904	N	0.034668	T	0.37865	0.1019	N	0.22421	0.69	0.36675	D	0.878723	P;P;P;P;P;P	0.45594	0.639;0.862;0.753;0.726;0.639;0.753	B;P;P;B;B;P	0.45946	0.302;0.498;0.498;0.437;0.302;0.498	T	0.52616	-0.8552	10	0.87932	D	0	.	16.369	0.83346	0.0:1.0:0.0:0.0	.	650;696;660;670;739;675	E7ETY4;Q7KZI7-14;Q7KZI7-15;Q7KZI7-5;Q7KZI7;Q7KZI7-16	.;.;.;.;MARK2_HUMAN;.	M	739;730;724;685;642;675;670;660;731;696;706;642;650	ENSP00000385751:T739M;ENSP00000326632:T730M;ENSP00000367040:T724M;ENSP00000389184:T685M;ENSP00000367041:T642M;ENSP00000425765:T675M;ENSP00000355091:T670M;ENSP00000294247:T660M;ENSP00000423974:T696M;ENSP00000421075:T706M;ENSP00000386128:T642M;ENSP00000415494:T650M	ENSP00000326632:T730M	T	+	2	0	MARK2	63433134	0.001000	0.12720	0.995000	0.50966	0.981000	0.71138	1.392000	0.34486	2.464000	0.83262	0.555000	0.69702	ACG		0.612	RCOR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318233.1	NM_173587		4	100	0	0	0	1	0	4	100					T	63676558	C	T	63676558	1	4	305	0	1	0	0	0	0	0	0	0	9313	536	19	1		1	MARK2	11	63676558	IGR	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	4046	63676558	71329958	624	15141											
RPS6KA4	8986	broad.mit.edu	37	chr11	64129351	64129351	+	Frame_Shift_Del	DEL	C	C	-																															ctgaagtgctcccctcccttCccccctcggatcgggcccgt																										TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr11:64129351delC	ENST00000334205.4	+	8	848	c.783delC	c.(781-783)ttcfs	p.F261fs	RPS6KA4_ENST00000294261.4_Frame_Shift_Del_p.F261fs|RPS6KA4_ENST00000528057.1_Frame_Shift_Del_p.F261fs	NM_003942.2	NP_003933.1	O75676	KS6A4_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 4	261	Protein kinase 1. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|histone H3-S10 phosphorylation (GO:0043987)|histone H3-S28 phosphorylation (GO:0043988)|histone phosphorylation (GO:0016572)|inflammatory response (GO:0006954)|interleukin-1-mediated signaling pathway (GO:0070498)|intracellular signal transduction (GO:0035556)|negative regulation of cytokine production (GO:0001818)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of histone acetylation (GO:0035066)|positive regulation of histone phosphorylation (GO:0033129)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|mitogen-activated protein kinase p38 binding (GO:0048273)|protein serine/threonine kinase activity (GO:0004674)|ribosomal protein S6 kinase activity (GO:0004711)			breast(1)|endometrium(3)|lung(7)|ovary(1)|prostate(1)	13						CCCCTCCCTTCCCCCCTCGGA	0.692																																						ENST00000528057.1																			0				breast(1)|endometrium(3)|lung(7)|ovary(1)|prostate(1)	13						c.(781-783)ttfs		ribosomal protein S6 kinase, 90kDa, polypeptide 4							43	49	47					11																	64129351		2200	4293	6493	SO:0001589	frameshift_variant	8986				axon guidance|histone phosphorylation|interleukin-1-mediated signaling pathway|intracellular protein kinase cascade|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	ATP binding|magnesium ion binding|mitogen-activated protein kinase p38 binding|ribosomal protein S6 kinase activity	g.chr11:64129351delC	AJ010119	CCDS8073.1, CCDS73313.1	11q11-q13	2011-04-05	2002-08-29		ENSG00000162302	ENSG00000162302			10433	protein-coding gene	gene with protein product		603606	"ribosomal protein S6 kinase, 90kD, polypeptide 4"			9792677, 9687510	Standard	XM_005274379		Approved	RSK-B, MSK2	uc001oae.3	O75676	OTTHUMG00000046094	ENST00000334205.4:c.783delC	11.37:g.64129351delC	ENSP00000333896:p.Phe261fs					RPS6KA4_ENST00000294261.4_Frame_Shift_Del_p.F261fs|RPS6KA4_ENST00000334205.4_Frame_Shift_Del_p.F261fs	p.F261fs	NM_001006944.1	NP_001006945.1	O75676	KS6A4_HUMAN			8	871	+			261			Protein kinase 1.		A8K7Z8|O75585|Q53ES8	Frame_Shift_Del	DEL	ENST00000334205.4	37	c.783delC	CCDS8073.1																																																																																				0.692	RPS6KA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106246.2	NM_003942		40	133						40	133	---	---	---	---	-	64129351	C	-	64129351	7	5	305	1	0	1	0	1	0	0	0	0	13653	854	30	0	813	0	RPS6KA4	11	64129351	Frame_Shift_Del	DEL	C	TCGA-KK-A59V-01A-11D-A29Q-08	452793	64129351	70877165	625	15142											
NRXN2	9379	broad.mit.edu	37	chr11	64434790	64434790	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaccttgcggctggatgccCgcagcttgatgcccccagat	6	9	12	14	2	0	3	0	2	0	1	0	4	0	4	4	2	4	3	4	2	0	2			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr11:64434790C>T	ENST00000377551.1	-	8	1941	c.1730G>A	c.(1729-1731)cGg>cAg	p.R577Q	NRXN2_ENST00000409571.1_Missense_Mutation_p.R570Q|NRXN2_ENST00000377559.3_Missense_Mutation_p.R546Q|NRXN2_ENST00000265459.6_Missense_Mutation_p.R577Q			Q9P2S2	NRX2A_HUMAN	neurexin 2	577	Laminin G-like 3. {ECO:0000255|PROSITE- ProRule:PRU00122}.				adult behavior (GO:0030534)|gephyrin clustering (GO:0097116)|neuroligin clustering (GO:0097118)|neuron cell-cell adhesion (GO:0007158)|neurotransmitter secretion (GO:0007269)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	integral component of membrane (GO:0016021)	calcium channel regulator activity (GO:0005246)|cell adhesion molecule binding (GO:0050839)|metal ion binding (GO:0046872)|neuroligin family protein binding (GO:0097109)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	71						GCTGGATGCCCGCAGCTTGAT	0.597																																						ENST00000265459.6																			0				breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	71						c.(1729-1731)cGg>cAg		neurexin 2							95	84	88					11																	64434790		2201	4297	6498	SO:0001583	missense	9379				cell adhesion	integral to membrane	metal ion binding	g.chr11:64434790C>T		CCDS8077.1, CCDS31597.1, CCDS8078.1	11q13	2008-07-18			ENSG00000110076	ENSG00000110076			8009	protein-coding gene	gene with protein product	"neurexin II"	600566				1621094	Standard	NM_015080		Approved		uc021qkw.1	P58401	OTTHUMG00000045214	ENST00000377551.1:c.1730G>A	11.37:g.64434790C>T	ENSP00000366774:p.Arg577Gln					NRXN2_ENST00000377559.3_Missense_Mutation_p.R546Q|NRXN2_ENST00000377551.1_Missense_Mutation_p.R577Q|NRXN2_ENST00000409571.1_Missense_Mutation_p.R570Q	p.R577Q	NM_015080.3	NP_055895.1	Q9P2S2	NRX2A_HUMAN			9	2191	-			577			Laminin G-like 3.		A7E2C1|Q9Y2D6	Missense_Mutation	SNP	ENST00000377551.1	37	c.1730G>A	CCDS8077.1	.	.	.	.	.	.	.	.	.	.	C	18.23	3.579025	0.65878	.	.	ENSG00000110076	ENST00000377551;ENST00000377559;ENST00000265459;ENST00000345863;ENST00000409571	T;T;T;T	0.69561	-0.41;-0.41;-0.41;-0.41	4.63	4.63	0.57726	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.175369	0.23380	U	0.048805	T	0.56093	0.1962	L	0.44542	1.39	0.40406	D	0.9797	P;P;P	0.50943	0.928;0.798;0.94	B;B;B	0.41332	0.295;0.235;0.354	T	0.63341	-0.6659	10	0.87932	D	0	.	8.5749	0.33592	0.0:0.8967:0.0:0.1033	.	546;577;323	Q9P2S2-2;Q9P2S2;E7EV67	.;NRX2A_HUMAN;.	Q	577;546;577;546;570	ENSP00000366774:R577Q;ENSP00000366782:R546Q;ENSP00000265459:R577Q;ENSP00000386416:R570Q	ENSP00000265459:R577Q	R	-	2	0	NRXN2	64191366	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.090000	0.50191	2.392000	0.81423	0.462000	0.41574	CGG		0.597	NRXN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000104967.3	NM_015080		7	140	0	0	0	1	0	7	140					T	64434790	C	T	64434790	3	4	305	1	0	0	0	0	1	0	0	0	10666	652	23	2	3737	2	NRXN2	11	64434790	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	305439	64434790	70571726	626	15143											
EHD1	10938	broad.mit.edu	37	chr11	64627665	64627665	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtctgccttgttcagcaccaCgcggatcttgtcctcatggt	5	13	10	13	2	4	0	2	0	2	0	5	1	5	1	3	2	2	2	3	2	0	3			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr11:64627665C>T	ENST00000320631.3	-	3	900	c.646G>A	c.(646-648)Gtg>Atg	p.V216M	EHD1_ENST00000359393.2_Missense_Mutation_p.V216M	NM_001282445.1|NM_006795.2	NP_001269374.1|NP_006786.2	Q9H4M9	EHD1_HUMAN	EH-domain containing 1	216	Dynamin-type G.			V -> M (in Ref. 2; AAD45866). {ECO:0000305}.	blood coagulation (GO:0007596)|cellular response to nerve growth factor stimulus (GO:1990090)|cholesterol homeostasis (GO:0042632)|endocytic recycling (GO:0032456)|endocytosis (GO:0006897)|intracellular protein transport (GO:0006886)|low-density lipoprotein particle clearance (GO:0034383)|neuron projection development (GO:0031175)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of endocytic recycling (GO:2001137)|positive regulation of myoblast fusion (GO:1901741)|protein homooligomerization (GO:0051260)	early endosome membrane (GO:0031901)|endocytic vesicle (GO:0030139)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|lipid particle (GO:0005811)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|recycling endosome membrane (GO:0055038)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|Rab GTPase binding (GO:0017137)			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	12						TTCAGCACCACGCGGATCTTG	0.582																																						ENST00000320631.3																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	12						c.(646-648)Gtg>Atg		EH-domain containing 1							105	96	99					11																	64627665		2201	4297	6498	SO:0001583	missense	10938				blood coagulation|cholesterol homeostasis|endocytic recycling|intracellular protein transport|low-density lipoprotein particle clearance|positive regulation of cholesterol storage|protein homooligomerization	early endosome membrane|lipid particle|plasma membrane|platelet dense tubular network membrane|recycling endosome membrane	ATP binding|calcium ion binding|GTP binding|GTPase activity|protein binding	g.chr11:64627665C>T	AF099011	CCDS8084.1, CCDS73315.1	11q13	2013-01-10			ENSG00000110047	ENSG00000110047		"EF-hand domain containing"	3242	protein-coding gene	gene with protein product	"testilin"	605888		PAST1		10395801, 10673336	Standard	NM_001282444		Approved	H-PAST, HPAST1, FLJ42622, FLJ44618	uc001obu.1	Q9H4M9	OTTHUMG00000066832	ENST00000320631.3:c.646G>A	11.37:g.64627665C>T	ENSP00000320516:p.Val216Met					EHD1_ENST00000359393.2_Missense_Mutation_p.V216M	p.V216M	NM_006795.2	NP_006786.2	Q9H4M9	EHD1_HUMAN			3	900	-			216	V -> M (in Ref. 2; AAD45866).				O14611|Q2M3Q4|Q9UNR3	Missense_Mutation	SNP	ENST00000320631.3	37	c.646G>A	CCDS8084.1	.	.	.	.	.	.	.	.	.	.	C	17.97	3.517499	0.64634	.	.	ENSG00000110047	ENST00000320631;ENST00000359393;ENST00000541001;ENST00000421303;ENST00000421510;ENST00000433803;ENST00000455148	D;D;D;D;D	0.97430	-4.38;-4.38;-4.38;-4.38;-4.38	5.07	5.07	0.68467	Dynamin, GTPase domain (1);	0.000000	0.85682	D	0.000000	D	0.98337	0.9448	M	0.86097	2.795	0.52099	D	0.999949	D;D	0.67145	0.996;0.996	D;D	0.65874	0.939;0.939	D	0.98985	1.0806	10	0.72032	D	0.01	-49.0631	15.9821	0.80116	0.0:1.0:0.0:0.0	.	216;216	B2R5U3;Q9H4M9	.;EHD1_HUMAN	M	216;216;192;230;80;230;80	ENSP00000320516:V216M;ENSP00000352354:V216M;ENSP00000391429:V80M;ENSP00000404944:V230M;ENSP00000396273:V80M	ENSP00000320516:V216M	V	-	1	0	EHD1	64384241	1.000000	0.71417	0.999000	0.59377	0.375000	0.29983	7.588000	0.82629	2.639000	0.89480	0.561000	0.74099	GTG		0.582	EHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143229.2	NM_006795		14	58	0	0	0	1	0	14	58					T	64627665	C	T	64627665	3	4	305	1	0	0	0	0	1	0	0	0	4977	536	19	1	970	1	EHD1	11	64627665	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	192875	64627665	70378851	627	15144											
TIGD3	220359	broad.mit.edu	37	chr11	65124395	65124395	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctcccggcaaaacgcccccGtcctcgcacaaaacctctga	10	5	7	19	4	1	1	0	1	1	0	4	1	3	1	5	1	2	3	5	1	4	0			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr11:65124395G>A	ENST00000309880.5	+	2	1323	c.1116G>A	c.(1114-1116)ccG>ccA	p.P372P		NM_145719.2	NP_663771.1	Q6B0B8	TIGD3_HUMAN	tigger transposable element derived 3	372						nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(3)|large_intestine(1)|lung(9)|prostate(2)|skin(2)	17						AAACGCCCCCGTCCTCGCACA	0.632																																						ENST00000309880.5																			0				endometrium(3)|large_intestine(1)|lung(9)|prostate(2)|skin(2)	17						c.(1114-1116)ccG>ccA		tigger transposable element derived 3							54	61	59					11																	65124395		2201	4297	6498	SO:0001819	synonymous_variant	220359				regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	DNA binding	g.chr11:65124395G>A		CCDS8101.1	11q13.1	2008-07-21				ENSG00000173825			18334	protein-coding gene	gene with protein product							Standard	NM_145719		Approved		uc001odo.4	Q6B0B8		ENST00000309880.5:c.1116G>A	11.37:g.65124395G>A							p.P372P	NM_145719.2	NP_663771.1	Q6B0B8	TIGD3_HUMAN			2	1323	+			372						Silent	SNP	ENST00000309880.5	37	c.1116G>A	CCDS8101.1																																																																																				0.632	TIGD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387310.1	NM_145719		38	91	0	0	0	1	0	38	91					A	65124395	G	A	65124395	2	1	305	1	0	0	0	0	0	0	0	1	15894	1132	40	1		1	TIGD3	11	65124395	Silent	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	496730	65124395	69882121	628	15145											
SCYL1	57410	broad.mit.edu	37	chr11	65303495	65303495	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tttgcaccgtcccgggttgcGggtgtcctgggctttgctgc	1	13	15	12	3	0	0	0	0	0	0	2	0	2	0	3	3	4	4	3	3	0	3			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr11:65303495G>A	ENST00000270176.5	+	11	1535	c.1458G>A	c.(1456-1458)gcG>gcA	p.A486A	SCYL1_ENST00000525364.1_Silent_p.A486A|SCYL1_ENST00000533862.1_Silent_p.A486A|SCYL1_ENST00000527009.1_Silent_p.A343A|SCYL1_ENST00000279270.6_Silent_p.A486A|SCYL1_ENST00000420247.2_Silent_p.A486A|SCYL1_ENST00000524944.1_Silent_p.A486A	NM_020680.3	NP_065731.3	Q96KG9	NTKL_HUMAN	SCY1-like 1 (S. cerevisiae)	486					peptidyl-tyrosine phosphorylation (GO:0018108)|regulation of transcription, DNA-templated (GO:0006355)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|transcription, DNA-templated (GO:0006351)	cis-Golgi network (GO:0005801)|COPI vesicle coat (GO:0030126)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|protein tyrosine kinase activity (GO:0004713)	p.A486A(1)		ovary(1)|skin(1)	2						CCCGGGTTGCGGGTGTCCTGG	0.597																																						ENST00000524944.1																			1	Substitution - coding silent(1)	p.A486A(1)	lung(1)	ovary(1)|skin(1)	2						c.(1456-1458)gcG>gcA		SCY1-like 1 (S. cerevisiae)							78	79	79					11																	65303495		1921	4126	6047	SO:0001819	synonymous_variant	57410				regulation of transcription, DNA-dependent|retrograde vesicle-mediated transport, Golgi to ER|transcription, DNA-dependent	cis-Golgi network|COPI vesicle coat|ER-Golgi intermediate compartment|microtubule organizing center|nucleus	ATP binding|DNA binding|protein tyrosine kinase activity	g.chr11:65303495G>A	AF225424	CCDS41672.1, CCDS44646.1	11q11-q12	2008-07-21	2002-11-26	2002-11-29	ENSG00000142186	ENSG00000142186			14372	protein-coding gene	gene with protein product	"teratoma-associated tyrosine kinase", "telomerase transcriptional elements-interacting factor", "telomerase regulation-associated protein"	607982	"N-terminal kinase-like"	NTKL		11118629	Standard	NM_020680		Approved	HT019, P105, GKLP, NKTL, TAPK, TRAP, TEIF, MGC78454	uc001oea.1	Q96KG9	OTTHUMG00000166325	ENST00000270176.5:c.1458G>A	11.37:g.65303495G>A						SCYL1_ENST00000527009.1_Silent_p.A343A|SCYL1_ENST00000270176.5_Silent_p.A486A|SCYL1_ENST00000279270.6_Silent_p.A486A|SCYL1_ENST00000525364.1_Silent_p.A486A|SCYL1_ENST00000527630.1_Silent_p.A486A|SCYL1_ENST00000420247.2_Silent_p.A486A|SCYL1_ENST00000533862.1_Silent_p.A486A	p.A486A			Q96KG9	NTKL_HUMAN			11	1491	+			486					A6NJF1|Q96G50|Q96KG8|Q96KH1|Q9HAW5|Q9HBL3|Q9NR53	Silent	SNP	ENST00000270176.5	37	c.1458G>A	CCDS41672.1																																																																																				0.597	SCYL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389159.2	NM_020680		31	74	0	0	0	1	0	31	74					A	65303495	G	A	65303495	2	1	305	1	0	0	0	0	0	0	0	1	13947	1103	39	2		2	SCYL1	11	65303495	Silent	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	179100	65303495	69703021	629	15146											
CNIH2	254263	broad.mit.edu	37	chr11	66050214	66050215	+	Frame_Shift_Ins	INS	-	-	A																															ccccaacagcgcgagcgtttINSaaaaaacatcgaacgcatct																										TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr11:66050214_66050215insA	ENST00000311445.6	+	3	419_420	c.161_162insA	c.(160-165)ttaaaafs	p.LK54fs	CNIH2_ENST00000530519.1_3'UTR|CNIH2_ENST00000528852.1_Frame_Shift_Ins_p.LK54fs|YIF1A_ENST00000526497.1_5'Flank	NM_182553.2	NP_872359.1	Q6PI25	CNIH2_HUMAN	cornichon family AMPA receptor auxiliary protein 2	54					intracellular signal transduction (GO:0035556)|localization within membrane (GO:0051668)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of membrane potential (GO:0042391)|synaptic transmission, glutamatergic (GO:0035249)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|dendrite (GO:0030425)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|endoplasmic reticulum (GO:0005783)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)				endometrium(1)|large_intestine(1)|lung(2)|prostate(1)	5						CGCGAGCGTTTAAAAAACATCG	0.649											OREG0021100	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000528852.1																			0				endometrium(1)|large_intestine(1)|lung(2)|prostate(1)	5						c.(160-162)taafs		cornichon family AMPA receptor auxiliary protein 2																																				SO:0001589	frameshift_variant	254263				intracellular signal transduction|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic shaft|dendritic spine|endoplasmic reticulum membrane|postsynaptic density|postsynaptic membrane	protein binding	g.chr11:66050214_66050215insA	BC047953	CCDS8131.1	11q13.2	2013-08-28	2013-08-28		ENSG00000174871	ENSG00000174871			28744	protein-coding gene	gene with protein product		611288	"cornichon homolog 2 (Drosophila)"			12477932	Standard	NM_182553		Approved	MGC50896, Cnil, CNIH-2	uc001ohi.2	Q6PI25	OTTHUMG00000166919	ENST00000311445.6:c.167dupA	11.37:g.66050220_66050220dupA	ENSP00000310003:p.Leu54fs		OREG0021100	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1088	CNIH2_ENST00000311445.6_Frame_Shift_Ins_p.*54fs|CNIH2_ENST00000530519.1_3'UTR	p.*54fs			Q6PI25	CNIH2_HUMAN			3	428_429	+			54						Frame_Shift_Ins	INS	ENST00000311445.6	37	c.161_162insA	CCDS8131.1																																																																																				0.649	CNIH2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000391892.1	NM_182553		18	41						18	41	---	---	---	---	A	66050215	-	A	66050214	7	5	305	1	0	1	1	0	0	0	0	0	3603	1764	61	0	171	0	CNIH2	11	66050214	Frame_Shift_Ins	INS	-	TCGA-KK-A59V-01A-11D-A29Q-08	746719	66050214	68956302	630	15147											
RHOD	29984	broad.mit.edu	37	chr11	66834316	66834316	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gctttgacaacatctttaacCgggtaggtactggggggcag	9	10	14	8	1	1	1	0	1	1	0	1	1	1	1	1	5	3	4	1	5	4	5			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr11:66834316C>T	ENST00000308831.2	+	3	413	c.328C>T	c.(328-330)Cgg>Tgg	p.R110W	RHOD_ENST00000532559.1_Intron|RHOD_ENST00000533360.1_Missense_Mutation_p.R110W	NM_014578.3	NP_055393	O00212	RHOD_HUMAN	ras homolog family member D	110					actin filament bundle assembly (GO:0051017)|focal adhesion assembly (GO:0048041)|GTP catabolic process (GO:0006184)|lamellipodium assembly (GO:0030032)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell migration (GO:0030335)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			lung(3)	3						CATCTTTAACCGGGTAGGTAC	0.617																																						ENST00000308831.2																			0				lung(3)	3						c.(328-330)Cgg>Tgg		ras homolog family member D							96	87	90					11																	66834316		2200	4295	6495	SO:0001583	missense	29984				regulation of small GTPase mediated signal transduction|Rho protein signal transduction	cytosol|plasma membrane	GTP binding|GTPase activity	g.chr11:66834316C>T	D85815	CCDS8155.1, CCDS73330.1	11q14.3	2012-02-27	2012-02-27	2004-03-24	ENSG00000173156	ENSG00000173156			670	protein-coding gene	gene with protein product	"Rho-related protein HP1", "Rho-related GTP-binding protein RhoD"	605781	"ras homolog gene family, member D"	ARHD		9116026	Standard	NM_014578		Approved	RhoHP1, RhoD, Rho	uc001ojv.3	O00212	OTTHUMG00000167102	ENST00000308831.2:c.328C>T	11.37:g.66834316C>T	ENSP00000308576:p.Arg110Trp					RHOD_ENST00000533360.1_Missense_Mutation_p.R110W|RHOD_ENST00000532559.1_Intron	p.R110W	NM_014578.3	NP_055393.1	O00212	RHOD_HUMAN			3	413	+			110						Missense_Mutation	SNP	ENST00000308831.2	37	c.328C>T	CCDS8155.1	.	.	.	.	.	.	.	.	.	.	C	17.30	3.354003	0.61293	.	.	ENSG00000173156	ENST00000308831;ENST00000533360	T;T	0.65549	-0.16;-0.16	3.9	1.94	0.25998	Small GTP-binding protein domain (1);	0.000000	0.43416	D	0.000562	T	0.68997	0.3062	M	0.63843	1.955	0.80722	D	1	D	0.89917	1.0	D	0.67103	0.949	T	0.67377	-0.5686	10	0.87932	D	0	-9.9421	4.6207	0.12449	0.2155:0.6704:0.0:0.1141	.	110	O00212	RHOD_HUMAN	W	110	ENSP00000308576:R110W;ENSP00000431167:R110W	ENSP00000308576:R110W	R	+	1	2	RHOD	66590892	0.041000	0.20044	0.918000	0.36340	0.093000	0.18481	0.077000	0.14738	0.571000	0.29365	0.561000	0.74099	CGG		0.617	RHOD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393136.1	NM_014578		36	83	0	0	0	1	0	36	83					T	66834316	C	T	66834316	3	4	305	1	0	0	0	0	1	0	0	0	13337	643	23	2	338	2	RHOD	11	66834316	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	784102	66834316	68172200	631	15148											
MTL5	9633	broad.mit.edu	37	chr11	68517872	68517872	+	Frame_Shift_Del	DEL	C	C	-																															gctccccgccgtcgctgtcgCcccccgcgagcttcgccttg																										TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr11:68517872delC	ENST00000255087.5	-	2	440	c.257delG	c.(256-258)ggcfs	p.G86fs	MTL5_ENST00000544963.1_Frame_Shift_Del_p.G86fs|MTL5_ENST00000443940.2_Frame_Shift_Del_p.G86fs|MTL5_ENST00000540869.1_5'Flank	NM_004923.3	NP_004914.2	Q9Y4I5	MTL5_HUMAN	metallothionein-like 5, testis-specific (tesmin)	86					cell differentiation (GO:0030154)|cellular metal ion homeostasis (GO:0006875)|multicellular organismal development (GO:0007275)|response to metal ion (GO:0010038)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			breast(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)	15	Esophageal squamous(3;4.37e-12)		LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.185)			GTCGCTGTCGCCCCCCGCGAG	0.751																																						ENST00000443940.2																			0				breast(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)	15						c.(256-258)gcfs		metallothionein-like 5, testis-specific (tesmin)							8	8	8					11																	68517872		2153	4189	6342	SO:0001589	frameshift_variant	9633				cell differentiation|cellular metal ion homeostasis|multicellular organismal development|response to metal ion|spermatogenesis	cytoplasm|nucleus|soluble fraction	metal ion binding	g.chr11:68517872delC	U86074	CCDS8184.1, CCDS44661.1	11q13.2-q13.3	2007-01-03			ENSG00000132749	ENSG00000132749			7446	protein-coding gene	gene with protein product	"CXC domain containing 2"	604374				1091092	Standard	XR_428932		Approved	CXCDC2	uc001ooc.3	Q9Y4I5	OTTHUMG00000167891	ENST00000255087.5:c.257delG	11.37:g.68517872delC	ENSP00000255087:p.Gly86fs					MTL5_ENST00000255087.5_Frame_Shift_Del_p.G86fs|MTL5_ENST00000544963.1_Frame_Shift_Del_p.G86fs	p.G86fs			Q9Y4I5	MTL5_HUMAN	LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.185)		2	343	-	Esophageal squamous(3;4.37e-12)		86					A8K8J3|Q4G182|Q6P2E2|Q8NCC8	Frame_Shift_Del	DEL	ENST00000255087.5	37	c.257delG	CCDS8184.1																																																																																				0.751	MTL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396844.1	NM_004923		5	7						5	7	---	---	---	---	-	68517872	C	-	68517872	7	5	305	1	0	1	0	1	0	0	0	0	9936	739	26	0	1309	0	MTL5	11	68517872	Frame_Shift_Del	DEL	C	TCGA-KK-A59V-01A-11D-A29Q-08	1683556	68517872	66488644	632	15149											
MRPL21	219927	broad.mit.edu	37	chr11	68664011	68664011	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtcgaattctctctccacacGcaaggtctagttcatttcca	9	13	6	13	2	4	0	1	0	3	0	8	1	5	0	2	1	0	2	2	1	3	4	rs372240224		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr11:68664011G>A	ENST00000362034.2	-	4	377	c.368C>T	c.(367-369)gCg>gTg	p.A123V	MRPL21_ENST00000567045.1_Missense_Mutation_p.A38V|MRPL21_ENST00000450904.2_Missense_Mutation_p.A38V	NM_181514.1|NM_181515.1	NP_852615.1|NP_852616.1	Q7Z2W9	RM21_HUMAN	mitochondrial ribosomal protein L21	123					translation (GO:0006412)	mitochondrion (GO:0005739)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			large_intestine(1)|lung(6)|prostate(1)	8			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			CTCTCCACACGCAAGGTCTAG	0.532																																						ENST00000567045.1																			0				large_intestine(1)|lung(6)|prostate(1)	8						c.(112-114)gCg>gTg		mitochondrial ribosomal protein L21		G	VAL/ALA,VAL/ALA	0,4400		0,0,2200	179	169	172		113,368	-3.5	0	11		172	1,8587	1.2+/-3.3	0,1,4293	no	missense,missense	MRPL21	NM_181515.1,NM_181514.1	64,64	0,1,6493	AA,AG,GG		0.0116,0.0,0.0077	benign,benign	38/121,123/206	68664011	1,12987	2200	4294	6494	SO:0001583	missense	219927				translation	mitochondrion|ribosome	RNA binding|structural constituent of ribosome	g.chr11:68664011G>A	AK096756	CCDS8186.1, CCDS44662.1	11q13.3	2012-09-13			ENSG00000197345	ENSG00000197345		"Mitochondrial ribosomal proteins / large subunits"	14479	protein-coding gene	gene with protein product		611834				11551941	Standard	NM_181514		Approved		uc001ooi.3	Q7Z2W9	OTTHUMG00000167893	ENST00000362034.2:c.368C>T	11.37:g.68664011G>A	ENSP00000354580:p.Ala123Val					MRPL21_ENST00000362034.2_Missense_Mutation_p.A123V|MRPL21_ENST00000450904.2_Missense_Mutation_p.A38V	p.A38V			Q7Z2W9	RM21_HUMAN	STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)		4	348	-			123					A6NKU0|C9JPR2	Missense_Mutation	SNP	ENST00000362034.2	37	c.113C>T	CCDS8186.1	.	.	.	.	.	.	.	.	.	.	G	7.986	0.752250	0.15778	0.0	1.16E-4	ENSG00000197345	ENST00000450904;ENST00000362034;ENST00000447977	.	.	.	5.26	-3.47	0.04753	.	0.273229	0.41001	D	0.000972	T	0.22975	0.0555	L	0.57536	1.79	0.09310	N	1	P;B	0.39044	0.656;0.279	B;B	0.34418	0.182;0.129	T	0.11991	-1.0565	9	0.54805	T	0.06	-3.4208	3.3013	0.06984	0.1619:0.0911:0.1665:0.5805	.	123;123	B4DXI4;Q7Z2W9	.;RM21_HUMAN	V	38;123;123	.	ENSP00000354580:A123V	A	-	2	0	MRPL21	68420587	0.944000	0.32072	0.000000	0.03702	0.001000	0.01503	1.690000	0.37711	-0.409000	0.07553	-0.825000	0.03093	GCG		0.532	MRPL21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396856.1	NM_181512		50	156	0	0	0	1	0	50	156					A	68664011	G	A	68664011	3	1	305	1	0	0	0	0	1	0	0	0	9787	1087	38	1	265	1	MRPL21	11	68664011	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	146139	68664011	66342505	633	15150											
TPCN2	219931	broad.mit.edu	37	chr11	68822732	68822732	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacggcggacgtgcgctaccGcgctgctccctgggagccgc	4	5	15	17	7	0	0	0	0	0	0	1	2	1	2	3	3	4	3	3	3	1	1	rs199743860		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr11:68822732G>A	ENST00000294309.3	+	4	442	c.341G>A	c.(340-342)cGc>cAc	p.R114H	TPCN2_ENST00000442692.2_3'UTR|TPCN2_ENST00000542467.1_Missense_Mutation_p.R114H	NM_139075.3	NP_620714.2	Q8NHX9	TPC2_HUMAN	two pore segment channel 2	114					calcium ion transport (GO:0006816)|cellular calcium ion homeostasis (GO:0006874)|ion transmembrane transport (GO:0034220)|membrane depolarization during action potential (GO:0086010)|release of sequestered calcium ion into cytosol (GO:0051209)|smooth muscle contraction (GO:0006939)|transmembrane transport (GO:0055085)	endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)|NAADP-sensitive calcium-release channel activity (GO:0072345)|protein kinase binding (GO:0019901)|voltage-gated calcium channel activity (GO:0005245)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1)	32			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			GTGCGCTACCGCGCTGCTCCC	0.622													G|||	1	0.000199681	0	0.0014	5008	,	,		16160	0		0	False		,,,				2504	0					ENST00000294309.3																			0				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1)	32						c.(340-342)cGc>cAc		two pore segment channel 2							118	110	113					11																	68822732		2200	4294	6494	SO:0001583	missense	219931				cellular calcium ion homeostasis|smooth muscle contraction	endosome membrane|integral to membrane|lysosomal membrane	NAADP-sensitive calcium-release channel activity|voltage-gated calcium channel activity	g.chr11:68822732G>A	AK023366	CCDS8189.1	11q13.1	2011-07-05			ENSG00000162341	ENSG00000162341		"Voltage-gated ion channels / Two-pore channels"	20820	protein-coding gene	gene with protein product		612163				16382101	Standard	NM_139075		Approved	TPC2	uc001oos.2	Q8NHX9	OTTHUMG00000167898	ENST00000294309.3:c.341G>A	11.37:g.68822732G>A	ENSP00000294309:p.Arg114His					TPCN2_ENST00000542467.1_Missense_Mutation_p.R114H|TPCN2_ENST00000442692.2_3'UTR	p.R114H	NM_139075.3	NP_620714.2	Q8NHX9	TPC2_HUMAN	STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)		4	442	+			114					Q9NT82	Missense_Mutation	SNP	ENST00000294309.3	37	c.341G>A	CCDS8189.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	16.81	3.225571	0.58668	.	.	ENSG00000162341	ENST00000356782;ENST00000294309;ENST00000542467	D;D	0.97279	-4.3;-4.32	4.96	4.96	0.65561	.	0.072463	0.49916	D	0.000123	D	0.97879	0.9303	M	0.66939	2.045	0.45227	D	0.998231	D;D	0.89917	1.0;1.0	D;D	0.69479	0.964;0.951	D	0.97223	0.9879	10	0.27082	T	0.32	-20.3487	18.1761	0.89761	0.0:0.0:1.0:0.0	.	114;114	E7ETX0;Q8NHX9	.;TPC2_HUMAN	H	44;114;114	ENSP00000294309:R114H;ENSP00000445551:R114H	ENSP00000294309:R114H	R	+	2	0	TPCN2	68579308	1.000000	0.71417	0.672000	0.29872	0.005000	0.04900	5.192000	0.65115	2.471000	0.83476	0.561000	0.74099	CGC		0.622	TPCN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396878.2	NM_139075		39	93	0	0	0	1	0	39	93					A	68822732	G	A	68822732	3	1	305	1	0	0	0	0	1	0	0	0	16393	1087	38	1	355	1	TPCN2	11	68822732	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	158721	68822732	66183784	634	15151											
SHANK2	22941	broad.mit.edu	37	chr11	70507841	70507841	+	Intron	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agcccgtcatcatcaccgcgGccgctcctccgccggggacg	5	5	12	19	7	3	0	3	0	0	0	5	1	5	1	6	3	1	1	6	3	0	0			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr11:70507841G>A	ENST00000423696.2	-	6	753				SHANK2_ENST00000409161.1_Missense_Mutation_p.A10V|SHANK2_ENST00000357171.3_Missense_Mutation_p.A11V|SHANK2_ENST00000449116.2_Missense_Mutation_p.A11V|SHANK2_ENST00000338508.4_Intron|SHANK2_ENST00000449833.2_Missense_Mutation_p.A11V|SHANK2_ENST00000409530.1_Missense_Mutation_p.A10V			Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2						adult behavior (GO:0030534)|learning (GO:0007612)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|vocalization behavior (GO:0071625)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|cell junction (GO:0030054)|ciliary membrane (GO:0060170)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|growth cone (GO:0030426)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	GKAP/Homer scaffold activity (GO:0030160)|ionotropic glutamate receptor binding (GO:0035255)			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			CATCACCGCGGCCGCTCCTCC	0.557																																						ENST00000449833.2																			0				NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62						c.(31-33)gCc>gTc		SH3 and multiple ankyrin repeat domains 2							111	116	114					11																	70507841		2200	4294	6494	SO:0001627	intron_variant	22941				intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding	g.chr11:70507841G>A	AF141901		11q13.2	2013-01-10			ENSG00000162105	ENSG00000162105		"Sterile alpha motif (SAM) domain containing", "Ankyrin repeat domain containing"	14295	protein-coding gene	gene with protein product		603290	"cortactin binding protein 1"	CORTBP1		10506216	Standard	XM_005277930		Approved	CTTNBP1, ProSAP1, SHANK, SPANK-3	uc001oqc.3	Q9UPX8	OTTHUMG00000154615	ENST00000423696.2:c.717-58C>T	11.37:g.70507841G>A						SHANK2_ENST00000423696.2_Intron|SHANK2_ENST00000449116.2_Missense_Mutation_p.A11V|SHANK2_ENST00000409161.1_Missense_Mutation_p.A10V|SHANK2_ENST00000357171.3_Missense_Mutation_p.A11V|SHANK2_ENST00000409530.1_Missense_Mutation_p.A10V|SHANK2_ENST00000338508.4_Intron	p.A11V	NM_133266.3	NP_573573.2	Q9UPX8	SHAN2_HUMAN	LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)		1	82	-			0					C0SPG8|C0SPG9|Q3Y8G9|Q52LK2|Q9UKP1	Missense_Mutation	SNP	ENST00000423696.2	37	c.32C>T		.	.	.	.	.	.	.	.	.	.	.	19.58	3.854036	0.71719	.	.	ENSG00000162105	ENST00000449833;ENST00000409161;ENST00000409530;ENST00000449116;ENST00000357171	T;T;T;T;T	0.60424	2.21;2.21;0.58;0.19;0.58	4.56	4.56	0.56223	.	.	.	.	.	T	0.47783	0.1464	N	0.22421	0.69	0.30521	N	0.768393	P;P	0.40180	0.58;0.705	B;B	0.38378	0.14;0.272	T	0.56535	-0.7963	9	0.62326	D	0.03	.	17.342	0.87299	0.0:0.0:1.0:0.0	.	11;11	B7ZKU9;Q9UPX8-4	.;.	V	11;10;10;11;11	ENSP00000399423:A11V;ENSP00000386491:A10V;ENSP00000387324:A10V;ENSP00000394939:A11V;ENSP00000349694:A11V	ENSP00000349694:A11V	A	-	2	0	SHANK2	70185489	1.000000	0.71417	0.141000	0.22245	0.957000	0.61999	5.742000	0.68646	2.081000	0.62600	0.491000	0.48974	GCC		0.557	SHANK2-203	KNOWN	basic	protein_coding	protein_coding		NM_012309		9	191	0	0	0	1	0	9	191					A	70507841	G	A	70507841	1	1	305	0	1	0	0	0	0	0	0	0	14265	1203	42	3		3	SHANK2	11	70507841	Intron	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	1685109	70507841	64498675	635	15152											
CLPB	81570	broad.mit.edu	37	chr11	72141383	72141383	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttcttgcatattgttggcaCgggcagcttccaacagggct	7	12	11	11	1	1	0	0	0	1	0	2	0	2	0	1	3	3	6	1	3	2	6			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr11:72141383C>T	ENST00000294053.3	-	2	601	c.428G>A	c.(427-429)cGt>cAt	p.R143H	CLPB_ENST00000543042.1_Intron|CLPB_ENST00000340729.5_Missense_Mutation_p.R143H|CLPB_ENST00000542555.1_5'UTR|CLPB_ENST00000538039.1_Missense_Mutation_p.R143H|CLPB_ENST00000445069.2_Missense_Mutation_p.R39H|CLPB_ENST00000437826.2_Silent_p.P62P	NM_001258394.1|NM_030813.4	NP_001245323.1|NP_110440.1	Q9H078	CLPB_HUMAN	ClpB caseinolytic peptidase B homolog (E. coli)	143					cellular response to heat (GO:0034605)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)			endometrium(3)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	19						ATTGTTGGCACGGGCAGCTTC	0.587																																						ENST00000294053.3																			0				endometrium(3)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	19						c.(427-429)cGt>cAt		ClpB caseinolytic peptidase B homolog (E. coli)							69	63	65					11																	72141383		2200	4293	6493	SO:0001583	missense	81570				cellular response to heat		ATP binding|nucleoside-triphosphatase activity|protein binding	g.chr11:72141383C>T	BC006404	CCDS8215.1, CCDS58152.1, CCDS58153.1, CCDS58154.1	11q13.4	2013-01-10			ENSG00000162129	ENSG00000162129		"Ankyrin repeat domain containing"	30664	protein-coding gene	gene with protein product	"suppressor of potassium transport defect 3"					11230166, 7835694	Standard	NM_030813		Approved	HSP78, SKD3, FLJ13152	uc010rqy.3	Q9H078	OTTHUMG00000167902	ENST00000294053.3:c.428G>A	11.37:g.72141383C>T	ENSP00000294053:p.Arg143His					CLPB_ENST00000445069.2_Missense_Mutation_p.R39H|CLPB_ENST00000340729.5_Missense_Mutation_p.R143H|CLPB_ENST00000542555.1_5'UTR|CLPB_ENST00000538039.1_Missense_Mutation_p.R143H|CLPB_ENST00000437826.2_Silent_p.P62P|CLPB_ENST00000543042.1_Intron	p.R143H	NM_001258394.1|NM_030813.4	NP_001245323.1|NP_110440.1	Q9H078	CLPB_HUMAN			2	601	-			143					B4DXJ7|B4DXP7|E7EWN6|F8W7P6|Q8ND11|Q9H8Y0	Missense_Mutation	SNP	ENST00000294053.3	37	c.428G>A	CCDS8215.1	.	.	.	.	.	.	.	.	.	.	C	23.9	4.470627	0.84533	.	.	ENSG00000162129	ENST00000294053;ENST00000538039;ENST00000340729	T;T;T	0.66460	-0.21;-0.21;1.3	5.17	5.17	0.71159	Ankyrin repeat-containing domain (4);	0.063402	0.56097	D	0.000029	T	0.74898	0.3777	L	0.43701	1.375	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.71414	0.966;0.934;0.973	T	0.76449	-0.2955	10	0.72032	D	0.01	-8.4471	14.0326	0.64624	0.0:1.0:0.0:0.0	.	143;143;143	F8W7P6;Q9H078-2;Q9H078	.;.;CLPB_HUMAN	H	143	ENSP00000294053:R143H;ENSP00000441518:R143H;ENSP00000340385:R143H	ENSP00000294053:R143H	R	-	2	0	CLPB	71819031	0.938000	0.31826	0.822000	0.32727	0.975000	0.68041	2.373000	0.44266	2.691000	0.91804	0.655000	0.94253	CGT		0.587	CLPB-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000396889.1	NM_030813		5	19	0	0	0	1	0	5	19					T	72141383	C	T	72141383	3	4	305	1	0	0	0	0	1	0	0	0	3551	536	19	1	1759	1	CLPB	11	72141383	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	1633542	72141383	62865133	636	15153											
ARAP1	116985	broad.mit.edu	37	chr11	72420933	72420933	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acctgaagatgcggtagggcGtggtgaggtcgaagctgcgc	8	7	18	8	4	0	3	0	2	0	1	1	4	0	3	1	4	3	2	1	4	3	1	rs544298839		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr11:72420933G>A	ENST00000393609.3	-	11	1707	c.1505C>T	c.(1504-1506)aCg>aTg	p.T502M	ARAP1_ENST00000426523.1_Missense_Mutation_p.T257M|ARAP1_ENST00000393605.3_Missense_Mutation_p.T262M|ARAP1_ENST00000359373.5_Missense_Mutation_p.T502M|ARAP1_ENST00000455638.2_Missense_Mutation_p.T502M|ARAP1_ENST00000429686.1_Missense_Mutation_p.T257M|ARAP1_ENST00000334211.8_Missense_Mutation_p.T257M	NM_001040118.2	NP_001035207.1	Q96P48	ARAP1_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1	502	PH 2. {ECO:0000255|PROSITE- ProRule:PRU00145}.				actin filament reorganization involved in cell cycle (GO:0030037)|negative regulation of stress fiber assembly (GO:0051497)|positive regulation of Cdc42 GTPase activity (GO:0043089)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of receptor recycling (GO:0001921)|regulation of ARF GTPase activity (GO:0032312)|regulation of cell shape (GO:0008360)|regulation of cellular component movement (GO:0051270)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|Rho GTPase activator activity (GO:0005100)|zinc ion binding (GO:0008270)			cervix(2)|endometrium(2)|large_intestine(10)|lung(8)|ovary(1)|skin(3)|urinary_tract(1)	27						GCGGTAGGGCGTGGTGAGGTC	0.587													G|||	1	0.000199681	0	0.0014	5008	,	,		19134	0		0	False		,,,				2504	0				Ovarian(102;1198 1520 13195 17913 37529)	ENST00000359373.5																			0				cervix(2)|endometrium(2)|large_intestine(10)|lung(8)|ovary(1)|skin(3)|urinary_tract(1)	27						c.(1504-1506)aCg>aTg		ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1							264	187	213					11																	72420933		2200	4293	6493	SO:0001583	missense	116985				actin filament reorganization involved in cell cycle|negative regulation of stress fiber assembly|positive regulation of Cdc42 GTPase activity|positive regulation of filopodium assembly|regulation of ARF GTPase activity|regulation of cell shape|regulation of cellular component movement|small GTPase mediated signal transduction	cytosol|Golgi cisterna membrane|plasma membrane	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|Rho GTPase activator activity|zinc ion binding	g.chr11:72420933G>A	AF411983	CCDS8217.2, CCDS41687.1, CCDS44671.1	11q13.3	2013-01-11	2008-09-22	2008-09-22	ENSG00000186635	ENSG00000186635		"ADP-ribosylation factor GTPase activating proteins", "Sterile alpha motif (SAM) domain containing", "Pleckstrin homology (PH) domain containing", "Ankyrin repeat domain containing"	16925	protein-coding gene	gene with protein product		606646	"centaurin, delta 2"	CENTD2			Standard	NM_001040118		Approved		uc001osu.3	Q96P48	OTTHUMG00000157102	ENST00000393609.3:c.1505C>T	11.37:g.72420933G>A	ENSP00000377233:p.Thr502Met					ARAP1_ENST00000429686.1_Missense_Mutation_p.T257M|ARAP1_ENST00000393609.3_Missense_Mutation_p.T502M|ARAP1_ENST00000455638.2_Missense_Mutation_p.T502M|ARAP1_ENST00000393605.3_Missense_Mutation_p.T262M|ARAP1_ENST00000334211.8_Missense_Mutation_p.T257M|ARAP1_ENST00000426523.1_Missense_Mutation_p.T257M	p.T502M			Q96P48	ARAP1_HUMAN			11	2356	-			502			PH 2.		A3KLL7|B2RTS2|O94879|Q4LDD5|Q59FI7|Q6PHS3|Q8WU51|Q96HP6|Q96L71	Missense_Mutation	SNP	ENST00000393609.3	37	c.1505C>T	CCDS41687.1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.500225	0.85176	.	.	ENSG00000186635	ENST00000359373;ENST00000455638;ENST00000393605;ENST00000334211;ENST00000393609;ENST00000426523;ENST00000429686;ENST00000340247	T;T;T;T;T;T;T	0.68479	-0.33;-0.33;-0.33;-0.33;-0.33;-0.33;-0.33	4.29	4.29	0.51040	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	0.000000	0.85682	D	0.000000	T	0.81049	0.4742	M	0.75615	2.305	0.47737	D	0.999503	D;D;D;D;D	0.89917	0.999;1.0;0.999;0.999;1.0	D;D;P;D;D	0.85130	0.948;0.997;0.903;0.948;0.977	D	0.84102	0.0396	10	0.87932	D	0	.	15.5033	0.75716	0.0:0.0:1.0:0.0	.	257;257;502;502;262	E7EU13;B2RTS2;Q96P48-3;Q96P48;Q96P48-1	.;.;.;ARAP1_HUMAN;.	M	502;502;262;257;502;257;257;291	ENSP00000352332:T502M;ENSP00000390461:T502M;ENSP00000377230:T262M;ENSP00000335506:T257M;ENSP00000377233:T502M;ENSP00000392264:T257M;ENSP00000403127:T257M	ENSP00000335506:T257M	T	-	2	0	ARAP1	72098581	1.000000	0.71417	0.984000	0.44739	0.908000	0.53690	9.607000	0.98328	2.196000	0.70406	0.563000	0.77884	ACG		0.587	ARAP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000347428.1	NM_001040118		27	78	0	0	0	1	0	27	78					A	72420933	G	A	72420933	3	1	305	1	0	0	0	0	1	0	0	0	838	1145	40	1	2947	1	ARAP1	11	72420933	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	279550	72420933	62585583	637	15154											
UCP3	7352	broad.mit.edu	37	chr11	73714927	73714927	+	Frame_Shift_Del	DEL	G	G	-																															catctttatcatacagtcgaGggggctgaagtactggcctg																								rs145884716		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr11:73714927delG	ENST00000314032.4	-	6	1321	c.769delC	c.(769-771)ctcfs	p.L257fs	UCP3_ENST00000545271.1_5'Flank|UCP3_ENST00000348534.4_Frame_Shift_Del_p.L155fs|UCP3_ENST00000426995.2_Frame_Shift_Del_p.L257fs	NM_003356.3	NP_003347.1	P55916	UCP3_HUMAN	uncoupling protein 3 (mitochondrial, proton carrier)	257					aging (GO:0007568)|cellular metabolic process (GO:0044237)|cellular response to hormone stimulus (GO:0032870)|fatty acid metabolic process (GO:0006631)|lipid metabolic process (GO:0006629)|mitochondrial transport (GO:0006839)|proton transport (GO:0015992)|respiratory electron transport chain (GO:0022904)|respiratory gaseous exchange (GO:0007585)|response to activity (GO:0014823)|response to cold (GO:0009409)|response to glucocorticoid (GO:0051384)|response to hypoxia (GO:0001666)|response to insulin (GO:0032868)|response to nutrient (GO:0007584)|response to superoxide (GO:0000303)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	oxidative phosphorylation uncoupler activity (GO:0017077)|transporter activity (GO:0005215)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	12	Breast(11;2.08e-05)					ATACAGTCGAGGGGGCTGAAG	0.617																																						ENST00000314032.4																			0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	12						c.(769-771)tcfs		uncoupling protein 3 (mitochondrial, proton carrier)							79	85	83					11																	73714927		2200	4293	6493	SO:0001589	frameshift_variant	7352				mitochondrial transport|respiratory electron transport chain|respiratory gaseous exchange	integral to membrane|mitochondrial inner membrane	binding	g.chr11:73714927delG	AF001787	CCDS8229.1, CCDS44677.1	11q13.4	2013-05-22				ENSG00000175564		"Solute carriers"	12519	protein-coding gene	gene with protein product		602044				9480760, 9196039	Standard	NM_003356		Approved	SLC25A9	uc001our.3	P55916		ENST00000314032.4:c.769delC	11.37:g.73714927delG	ENSP00000323740:p.Leu257fs					UCP3_ENST00000426995.2_Frame_Shift_Del_p.L257fs|UCP3_ENST00000348534.4_Frame_Shift_Del_p.L155fs	p.L257fs	NM_003356.3	NP_003347.1	P55916	UCP3_HUMAN			6	1321	-	Breast(11;2.08e-05)		257					O60475|Q96HL3	Frame_Shift_Del	DEL	ENST00000314032.4	37	c.769delC	CCDS8229.1																																																																																				0.617	UCP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398200.1	NM_003356		42	152						42	152	---	---	---	---	-	73714927	G	-	73714927	7	5	305	1	0	1	0	1	0	0	0	0	16929	1000	35	0	181	0	UCP3	11	73714927	Frame_Shift_Del	DEL	G	TCGA-KK-A59V-01A-11D-A29Q-08	1293994	73714927	61291589	638	15155											
FAM181B	220382	broad.mit.edu	37	chr11	82443609	82443611	+	In_Frame_Del	DEL	GGC	GGC	-																															aatcgtaggacacctgatggGgcggcggcggcgggggcagg																										TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr11:82443609_82443611delGGC	ENST00000329203.3	-	1	1295_1297	c.1161_1163delGCC	c.(1159-1164)ccgccc>ccc	p.387_388PP>P		NM_175885.3	NP_787081.2	A6NEQ2	F181B_HUMAN	family with sequence similarity 181, member B	387	Pro-rich.									large_intestine(1)|lung(2)|prostate(1)	4						CACCTGATGGGGCGGCGGCGGCG	0.704																																						ENST00000329203.3																			0				large_intestine(1)|lung(2)|prostate(1)	4						c.(1159-1164)ccc>cc		family with sequence similarity 181, member B				1,19,3244		0,0,1,0,19,1612						0.7	0.2			7	6,62,7100		1,0,4,5,52,3522	no	codingComplex	FAM181B	NM_175885.3		1,0,5,5,71,5134	A1A1,A1A2,A1R,A2A2,A2R,RR		0.9487,0.6127,0.8436				7,81,10344				SO:0001651	inframe_deletion	220382							g.chr11:82443609_82443611delGGC	AK095054, BC039262	CCDS31648.1	11q14.1	2011-11-30			ENSG00000182103	ENSG00000182103			28512	protein-coding gene	gene with protein product						12477932	Standard	NM_175885		Approved	LOC220382, MGC33846	uc001ozp.3	A6NEQ2	OTTHUMG00000166869	ENST00000329203.3:c.1161_1163delGCC	11.37:g.82443618_82443620delGGC	ENSP00000365295:p.Pro388del						p.PP387del	NM_175885.3	NP_787081.2	A6NEQ2	F181B_HUMAN			1	1295_1297	-			387			Pro-rich.		B2RWP1	In_Frame_Del	DEL	ENST00000329203.3	37	c.1161_1163delGCC	CCDS31648.1																																																																																				0.704	FAM181B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391626.1	NM_175885		7	34						7	34	---	---	---	---	-	82443611	GGC	-	82443609	7	5	305	1	0	1	0	1	0	0	0	0	5509	1232	43	0	121	0	FAM181B	11	82443609	In_Frame_Del	DEL	GGC	TCGA-KK-A59V-01A-11D-A29Q-08	8728682	82443609	52562907	639	15156											
FAM76B	143684	broad.mit.edu	37	chr11	95519329	95519329	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caaaagcacattgctgtttgCactgttcacaggtctgaggt	10	12	10	9	0	2	1	1	1	1	0	2	1	2	1	0	2	3	5	0	2	2	3			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr11:95519329C>T	ENST00000358780.5	-	4	629	c.317G>A	c.(316-318)tGc>tAc	p.C106Y	FAM76B_ENST00000538047.1_5'Flank|FAM76B_ENST00000536839.1_Missense_Mutation_p.C106Y	NM_144664.4	NP_653265.3	Q5HYJ3	FA76B_HUMAN	family with sequence similarity 76, member B	106						nuclear membrane (GO:0031965)|nucleus (GO:0005634)				breast(1)|kidney(1)|lung(1)	3		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				TTGCTGTTTGCACTGTTCACA	0.373																																						ENST00000358780.5																			0				breast(1)|kidney(1)|lung(1)	3						c.(316-318)tGc>tAc		family with sequence similarity 76, member B							150	150	150					11																	95519329		2105	4269	6374	SO:0001583	missense	143684							g.chr11:95519329C>T		CCDS41700.1	11q21	2008-02-05			ENSG00000077458	ENSG00000077458			28492	protein-coding gene	gene with protein product						12477932	Standard	NM_144664		Approved	MGC33371	uc001pfn.2	Q5HYJ3	OTTHUMG00000167739	ENST00000358780.5:c.317G>A	11.37:g.95519329C>T	ENSP00000351631:p.Cys106Tyr					FAM76B_ENST00000536839.1_Missense_Mutation_p.C106Y	p.C106Y	NM_144664.4	NP_653265.3	Q5HYJ3	FA76B_HUMAN			4	629	-		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)	106					Q6PIU3|Q8TC53	Missense_Mutation	SNP	ENST00000358780.5	37	c.317G>A	CCDS41700.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.90|19.90	3.912761|3.912761	0.72983|0.72983	.|.	.|.	ENSG00000077458|ENSG00000077458	ENST00000542135;ENST00000540054;ENST00000537749|ENST00000358780;ENST00000536839	.|.	.|.	.|.	5.96|5.96	5.96|5.96	0.96718|0.96718	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.84977|0.84977	0.5592|0.5592	M|M	0.85197|0.85197	2.74|2.74	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.91635	.|0.999	D|D	0.86000|0.86000	0.1494|0.1494	6|9	0.87932|0.87932	D|D	0|0	-20.977|-20.977	20.4008|20.4008	0.98991|0.98991	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|106	.|Q5HYJ3	.|FA76B_HUMAN	T|Y	10|106	.|.	ENSP00000437366:A10T|ENSP00000351631:C106Y	A|C	-|-	1|2	0|0	FAM76B|FAM76B	95158977|95158977	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	7.755000|7.755000	0.85180|0.85180	2.826000|2.826000	0.97356|0.97356	0.655000|0.655000	0.94253|0.94253	GCA|TGC		0.373	FAM76B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395969.1	NM_144664		30	90	0	0	0	1	0	30	90					T	95519329	C	T	95519329	3	4	305	1	0	0	0	0	1	0	0	0	5625	710	25	3	730	3	FAM76B	11	95519329	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	13075720	95519329	39487187	640	15157											
NNMT	4837	broad.mit.edu	37	chr11	114183174	114183174	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggacttttctccctggtggCgaggaagctgagcagacccc	8	8	13	12	1	1	2	0	1	1	1	2	5	1	4	3	4	2	2	3	4	1	2	rs576476423		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr11:114183174C>T	ENST00000535401.1	+	5	1034	c.770C>T	c.(769-771)gCg>gTg	p.A257V	NNMT_ENST00000545255.1_Missense_Mutation_p.A62V|NNMT_ENST00000299964.3_Missense_Mutation_p.A257V|NNMT_ENST00000541754.1_Missense_Mutation_p.A62V|NNMT_ENST00000542647.1_Missense_Mutation_p.A62V|RP11-64D24.2_ENST00000544925.1_RNA			P40261	NNMT_HUMAN	nicotinamide N-methyltransferase	257					methylation (GO:0032259)|organ regeneration (GO:0031100)|response to drug (GO:0042493)|response to organonitrogen compound (GO:0010243)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	nicotinamide N-methyltransferase activity (GO:0008112)			kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16		all_cancers(61;4.83e-16)|all_epithelial(67;7.28e-09)|all_hematologic(158;0.000135)|Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0906)		BRCA - Breast invasive adenocarcinoma(274;2.79e-06)|Epithelial(105;1.32e-05)|all cancers(92;0.000144)|OV - Ovarian serous cystadenocarcinoma(223;0.128)	Niacin(DB00627)	TCCCTGGTGGCGAGGAAGCTG	0.483													G|||	1	0.000199681	0	0	5008	,	,		22331	0.001		0	False		,,,				2504	0					ENST00000535401.1																			0				kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16						c.(769-771)gCg>gTg		nicotinamide N-methyltransferase	Niacin(DB00627)						98	93	94					11																	114183174		2201	4296	6497	SO:0001583	missense	4837				xenobiotic metabolic process	cytosol	nicotinamide N-methyltransferase activity|pyridine N-methyltransferase activity	g.chr11:114183174C>T	U08021	CCDS8368.1	11q23.1	2007-08-15					2.1.1.1		7861	protein-coding gene	gene with protein product		600008				8575745	Standard	NM_006169		Approved		uc001pos.1	P40261		ENST00000535401.1:c.770C>T	11.37:g.114183174C>T	ENSP00000441434:p.Ala257Val					RP11-64D24.2_ENST00000544925.1_RNA|NNMT_ENST00000299964.3_Missense_Mutation_p.A257V|NNMT_ENST00000542647.1_Missense_Mutation_p.A62V|NNMT_ENST00000545255.1_Missense_Mutation_p.A62V|NNMT_ENST00000541754.1_Missense_Mutation_p.A62V	p.A257V			P40261	NNMT_HUMAN		BRCA - Breast invasive adenocarcinoma(274;2.79e-06)|Epithelial(105;1.32e-05)|all cancers(92;0.000144)|OV - Ovarian serous cystadenocarcinoma(223;0.128)	5	1034	+		all_cancers(61;4.83e-16)|all_epithelial(67;7.28e-09)|all_hematologic(158;0.000135)|Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0906)	257						Missense_Mutation	SNP	ENST00000535401.1	37	c.770C>T	CCDS8368.1	.	.	.	.	.	.	.	.	.	.	G	25.9	4.687871	0.88639	.	.	ENSG00000166741	ENST00000535401;ENST00000299964;ENST00000541754;ENST00000542647;ENST00000545255	T;T;T;T;T	0.06849	3.25;3.25;3.25;3.25;3.25	4.93	2.98	0.34508	.	0.254272	0.30365	N	0.009796	T	0.24314	0.0589	L	0.61036	1.89	0.19575	N	0.999968	D	0.89917	1.0	D	0.67725	0.953	T	0.06661	-1.0814	10	0.87932	D	0	-1.7316	14.8063	0.69959	0.0:0.5894:0.4106:0.0	.	257	P40261	NNMT_HUMAN	V	257;257;62;62;62	ENSP00000441434:A257V;ENSP00000299964:A257V;ENSP00000445680:A62V;ENSP00000445994:A62V;ENSP00000445248:A62V	ENSP00000299964:A257V	A	+	2	0	NNMT	113688384	0.971000	0.33674	0.426000	0.26672	0.715000	0.41141	1.911000	0.39937	0.115000	0.18071	-1.100000	0.02121	GCG		0.483	NNMT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398951.1	NM_006169		14	106	0	0	0	1	0	14	106					T	114183174	C	T	114183174	3	4	305	1	0	0	0	0	1	0	0	0	10509	768	27	1	780	1	NNMT	11	114183174	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	18663845	114183174	20823342	641	15158											
APOA4	337	broad.mit.edu	37	chr11	116692116	116692116	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atagggagccaggctgcggcGcagctcctccacggtctggt	6	7	15	13	3	1	0	0	0	1	0	3	1	3	1	3	5	3	3	3	5	1	1	rs375764097		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr11:116692116G>A	ENST00000357780.3	-	3	772	c.658C>T	c.(658-660)Cgc>Tgc	p.R220C		NM_000482.3	NP_000473.2	P06727	APOA4_HUMAN	apolipoprotein A-IV	220	13 X 22 AA approximate tandem repeats.				cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|chylomicron assembly (GO:0034378)|chylomicron remodeling (GO:0034371)|high-density lipoprotein particle remodeling (GO:0034375)|hydrogen peroxide catabolic process (GO:0042744)|innate immune response in mucosa (GO:0002227)|leukocyte cell-cell adhesion (GO:0007159)|lipid homeostasis (GO:0055088)|lipid transport (GO:0006869)|lipoprotein metabolic process (GO:0042157)|multicellular organismal lipid catabolic process (GO:0044240)|negative regulation of plasma lipoprotein particle oxidation (GO:0034445)|phosphatidylcholine metabolic process (GO:0046470)|phospholipid efflux (GO:0033700)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol esterification (GO:0010873)|positive regulation of fatty acid biosynthetic process (GO:0045723)|positive regulation of lipoprotein lipase activity (GO:0051006)|positive regulation of triglyceride catabolic process (GO:0010898)|protein-lipid complex assembly (GO:0065005)|regulation of cholesterol transport (GO:0032374)|regulation of intestinal cholesterol absorption (GO:0030300)|removal of superoxide radicals (GO:0019430)|response to lipid hydroperoxide (GO:0006982)|response to stilbenoid (GO:0035634)|retinoid metabolic process (GO:0001523)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)|very-low-density lipoprotein particle remodeling (GO:0034372)	blood microparticle (GO:0072562)|chylomicron (GO:0042627)|cytosol (GO:0005829)|early endosome (GO:0005769)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|high-density lipoprotein particle (GO:0034364)|very-low-density lipoprotein particle (GO:0034361)	antioxidant activity (GO:0016209)|cholesterol transporter activity (GO:0017127)|copper ion binding (GO:0005507)|lipid binding (GO:0008289)|lipid transporter activity (GO:0005319)|phosphatidylcholine binding (GO:0031210)|phosphatidylcholine-sterol O-acyltransferase activator activity (GO:0060228)|protein homodimerization activity (GO:0042803)			cervix(1)|endometrium(2)|lung(10)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	20	all_hematologic(175;0.0487)	Breast(348;0.0126)|Medulloblastoma(222;0.0425)|all_hematologic(158;0.0564)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|Epithelial(105;1.62e-05)|all cancers(92;0.000165)|OV - Ovarian serous cystadenocarcinoma(223;0.148)		AGGCTGCGGCGCAGCTCCTCC	0.582													G|||	1	0.000199681	8e-04	0	5008	,	,		19425	0		0	False		,,,				2504	0					ENST00000357780.3																			0				cervix(1)|endometrium(2)|lung(10)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	20						c.(658-660)Cgc>Tgc		apolipoprotein A-IV		G	CYS/ARG	1,4401	2.1+/-5.4	0,1,2200	156	154	154		658	5	1	11		154	0,8584		0,0,4292	no	missense	APOA4	NM_000482.3	180	0,1,6492	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	220/397	116692116	1,12985	2201	4292	6493	SO:0001583	missense	337							g.chr11:116692116G>A		CCDS31681.1	11q23.3	2013-01-24			ENSG00000110244	ENSG00000110244		"Apolipoproteins"	602	protein-coding gene	gene with protein product		107690					Standard	NM_000482		Approved		uc001pps.1	P06727	OTTHUMG00000046110	ENST00000357780.3:c.658C>T	11.37:g.116692116G>A	ENSP00000350425:p.Arg220Cys						p.R220C	NM_000482.3	NP_000473.2				BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|Epithelial(105;1.62e-05)|all cancers(92;0.000165)|OV - Ovarian serous cystadenocarcinoma(223;0.148)	3	772	-	all_hematologic(175;0.0487)	Breast(348;0.0126)|Medulloblastoma(222;0.0425)|all_hematologic(158;0.0564)|all_neural(223;0.234)						A8MSL6|Q14CW8|Q6Q787	Missense_Mutation	SNP	ENST00000357780.3	37	c.658C>T	CCDS31681.1	.	.	.	.	.	.	.	.	.	.	G	26.9	4.782751	0.90282	2.27E-4	0.0	ENSG00000110244	ENST00000357780	T	0.79352	-1.26	4.96	4.96	0.65561	Apolipoprotein/apolipophorin (1);	0.089077	0.49916	D	0.000134	D	0.90338	0.6977	M	0.89904	3.07	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.92524	0.6027	10	0.87932	D	0	-22.0225	17.7718	0.88495	0.0:0.0:1.0:0.0	.	220	P06727	APOA4_HUMAN	C	220	ENSP00000350425:R220C	ENSP00000350425:R220C	R	-	1	0	APOA4	116197326	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	3.666000	0.54540	2.302000	0.77476	0.563000	0.77884	CGC		0.582	APOA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106279.2	NM_000482		6	188	0	0	0	1	0	6	188					A	116692116	G	A	116692116	3	1	305	1	0	0	0	0	1	0	0	0	783	1087	38	1	536	1	APOA4	11	116692116	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	2508942	116692116	18314400	642	15159											
DSCAML1	57453	broad.mit.edu	37	chr11	117310075	117310075	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtcctcagccttcactgcacGcagcagcagtgtgccattgg	7	9	11	14	1	2	0	2	0	0	0	3	0	3	0	3	1	5	4	3	1	0	2			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr11:117310075G>A	ENST00000321322.6	-	23	4232	c.4231C>T	c.(4231-4233)Cgt>Tgt	p.R1411C	DSCAML1_ENST00000527706.1_Missense_Mutation_p.R1141C	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	1351	Fibronectin type-III 5. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axonogenesis (GO:0007409)|brain development (GO:0007420)|cell fate determination (GO:0001709)|central nervous system development (GO:0007417)|dendrite self-avoidance (GO:0070593)|dorsal/ventral pattern formation (GO:0009953)|embryonic skeletal system morphogenesis (GO:0048704)|homophilic cell adhesion (GO:0007156)|negative regulation of cell adhesion (GO:0007162)	cell surface (GO:0009986)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		TTCACTGCACGCAGCAGCAGT	0.607																																						ENST00000321322.6																			0				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110						c.(4231-4233)Cgt>Tgt		Down syndrome cell adhesion molecule like 1							113	96	102					11																	117310075		2201	4296	6497	SO:0001583	missense	57453				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity	g.chr11:117310075G>A		CCDS8384.1	11q22.2-q22.3	2013-02-11			ENSG00000177103	ENSG00000177103		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	14656	protein-coding gene	gene with protein product		611782				11453658	Standard	NM_020693		Approved	KIAA1132	uc001prh.1	Q8TD84	OTTHUMG00000167071	ENST00000321322.6:c.4231C>T	11.37:g.117310075G>A	ENSP00000315465:p.Arg1411Cys					DSCAML1_ENST00000527706.1_Missense_Mutation_p.R1141C	p.R1411C	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)	23	4232	-	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)	1351			Fibronectin type-III 5.		Q76MU9|Q8IZY3|Q8IZY4|Q8WXU7|Q9ULT7	Missense_Mutation	SNP	ENST00000321322.6	37	c.4231C>T	CCDS8384.1	.	.	.	.	.	.	.	.	.	.	G	18.54	3.645616	0.67358	.	.	ENSG00000177103	ENST00000527706;ENST00000321322;ENST00000446508	T;T	0.68479	-0.33;-0.33	4.89	4.89	0.63831	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.83519	0.5272	M	0.83312	2.635	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.86202	0.1619	9	0.87932	D	0	.	18.2491	0.89997	0.0:0.0:1.0:0.0	.	1351	Q8TD84	DSCL1_HUMAN	C	1141;1411;1118	ENSP00000434335:R1141C;ENSP00000315465:R1411C	ENSP00000315465:R1411C	R	-	1	0	DSCAML1	116815285	1.000000	0.71417	0.839000	0.33178	0.147000	0.21601	9.657000	0.98554	2.549000	0.85964	0.561000	0.74099	CGT		0.607	DSCAML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392907.2	NM_020693		25	65	0	0	0	1	0	25	65					A	117310075	G	A	117310075	3	1	305	1	0	0	0	0	1	0	0	0	4769	1087	38	1	2154	1	DSCAML1	11	117310075	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	617959	117310075	17696441	643	15160											
C2CD2L	9854	broad.mit.edu	37	chr11	118984807	118984807	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggtgcccattgctcaggaCgagttggcgctatccctggg	6	9	14	12	2	1	0	1	0	0	0	2	2	2	1	2	4	2	3	2	4	1	3	rs199873574		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr11:118984807C>T	ENST00000528586.1	+	9	955	c.885C>T	c.(883-885)gaC>gaT	p.D295D	C2CD2L_ENST00000336702.3_Silent_p.D548D			O14523	C2C2L_HUMAN	C2CD2-like	547						integral component of membrane (GO:0016021)				NS(1)|endometrium(1)|large_intestine(2)|lung(8)|prostate(1)	13						TTGCTCAGGACGAGTTGGCGC	0.627													C|||	1	0.000199681	0	0	5008	,	,		18641	0		0.001	False		,,,				2504	0					ENST00000336702.3																			0				NS(1)|endometrium(1)|large_intestine(2)|lung(8)|prostate(1)	13						c.(1642-1644)gaC>gaT		C2CD2-like		C		0,4400		0,0,2200	93	96	95		1644	0.1	1	11		95	1,8589	1.2+/-3.3	0,1,4294	no	coding-synonymous	C2CD2L	NM_014807.3		0,1,6494	TT,TC,CC		0.0116,0.0,0.0077		548/708	118984807	1,12989	2200	4295	6495	SO:0001819	synonymous_variant	9854					integral to membrane		g.chr11:118984807C>T	AK025223	CCDS8413.1	11q23.3	2008-04-22	2008-04-22	2008-04-22		ENSG00000172375			29000	protein-coding gene	gene with protein product			"transmembrane protein 24"	TMEM24		15289880	Standard	XM_005271738		Approved	KIAA0285	uc001pvn.3	O14523		ENST00000528586.1:c.885C>T	11.37:g.118984807C>T						C2CD2L_ENST00000528586.1_Silent_p.D295D	p.D548D	NM_014807.3	NP_055622.3	O14523	C2C2L_HUMAN			13	2003	+			547					Q86UT7|Q86V04|Q8N522|Q8TBN4|Q96G10	Silent	SNP	ENST00000528586.1	37	c.1644C>T																																																																																					0.627	C2CD2L-003	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000388199.2	NM_014807		36	129	0	0	0	1	0	36	129					T	118984807	C	T	118984807	2	4	305	1	0	0	0	0	0	0	0	1	2153	535	19	1		1	C2CD2L	11	118984807	Silent	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	1674732	118984807	16021709	644	15161											
TRIM29	23650	broad.mit.edu	37	chr11	120008242	120008242	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cacagcacctcctcggagccGgacttggaccgtgaaaaaag	12	5	11	13	3	0	1	0	1	0	0	2	4	1	4	4	3	2	1	4	3	3	1			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr11:120008242G>A	ENST00000341846.5	-	1	919	c.498C>T	c.(496-498)tcC>tcT	p.S166S		NM_012101.3	NP_036233.2	Q14134	TRI29_HUMAN	tripartite motif containing 29	166					negative regulation of protein localization to nucleus (GO:1900181)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)	sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	30		Breast(109;0.00117)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.37e-06)		CCTCGGAGCCGGACTTGGACC	0.657																																						ENST00000341846.5																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	30						c.(496-498)tcC>tcT		tripartite motif containing 29							37	47	43					11																	120008242		2202	4300	6502	SO:0001819	synonymous_variant	23650				transcription from RNA polymerase II promoter	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr11:120008242G>A	AF230388	CCDS8428.1	11q23.3	2011-04-20	2011-01-25		ENSG00000137699	ENSG00000137699		"Tripartite motif containing / Tripartite motif containing"	17274	protein-coding gene	gene with protein product	"tripartite motif protein TRIM29", "ataxia-telangiectasia group D-associated protein"	610658	"tripartite motif-containing 29"			11331580	Standard	NM_012101		Approved	ATDC, FLJ36085	uc001pwz.3	Q14134	OTTHUMG00000140377	ENST00000341846.5:c.498C>T	11.37:g.120008242G>A							p.S166S	NM_012101.3	NP_036233.2	Q14134	TRI29_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.37e-06)	1	919	-		Breast(109;0.00117)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	166					Q96AA9|Q9BZY7	Silent	SNP	ENST00000341846.5	37	c.498C>T	CCDS8428.1																																																																																				0.657	TRIM29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277108.2	NM_012101		5	125	0	0	0	1	0	5	125					A	120008242	G	A	120008242	2	1	305	1	0	0	0	0	0	0	0	1	16500	1103	39	2		2	TRIM29	11	120008242	Silent	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	1023435	120008242	14998274	645	15162											
SORL1	6653	broad.mit.edu	37	chr11	121476199	121476199	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcttgaaaccagataccacgTatcaggttaaagtacaggtt	14	11	8	8	1	2	2	1	1	1	1	2	2	2	2	2	2	3	4	2	2	6	6			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr11:121476199T>C	ENST00000260197.7	+	35	4996	c.4867T>C	c.(4867-4869)Tat>Cat	p.Y1623H	SORL1_ENST00000534286.1_Missense_Mutation_p.Y533H|SORL1_ENST00000527934.1_Missense_Mutation_p.Y238H|SORL1_ENST00000525532.1_Missense_Mutation_p.Y567H|SORL1_ENST00000532694.1_Missense_Mutation_p.Y469H	NM_003105.5	NP_003096	Q92673	SORL_HUMAN	sortilin-related receptor, L(DLR class) A repeats containing	1623	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell death (GO:0008219)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)|negative regulation of aspartic-type endopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902960)|negative regulation of beta-amyloid formation (GO:1902430)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of metalloendopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902963)|negative regulation of neurofibrillary tangle assembly (GO:1902997)|negative regulation of neurogenesis (GO:0050768)|negative regulation of neuron death (GO:1901215)|negative regulation of protein binding (GO:0032091)|negative regulation of protein oligomerization (GO:0032460)|negative regulation of tau-protein kinase activity (GO:1902948)|positive regulation of choline O-acetyltransferase activity (GO:1902771)|positive regulation of early endosome to recycling endosome transport (GO:1902955)|positive regulation of endocytic recycling (GO:2001137)|positive regulation of ER to Golgi vesicle-mediated transport (GO:1902953)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein exit from endoplasmic reticulum (GO:0070863)|positive regulation of protein localization to early endosome (GO:1902966)|post-Golgi vesicle-mediated transport (GO:0006892)|protein maturation (GO:0051604)|protein retention in Golgi apparatus (GO:0045053)|protein targeting (GO:0006605)|protein targeting to Golgi (GO:0000042)|protein targeting to lysosome (GO:0006622)|receptor-mediated endocytosis (GO:0006898)|regulation of smooth muscle cell migration (GO:0014910)|signal transduction (GO:0007165)	early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi cisterna (GO:0031985)|integral component of plasma membrane (GO:0005887)|low-density lipoprotein particle (GO:0034362)|membrane (GO:0016020)|multivesicular body (GO:0005771)|neuronal cell body (GO:0043025)|nuclear envelope lumen (GO:0005641)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802)	ADP-ribosylation factor binding (GO:0030306)|beta-amyloid binding (GO:0001540)|low-density lipoprotein particle binding (GO:0030169)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		AGATACCACGTATCAGGTTAA	0.448																																						ENST00000260197.7																			0				NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91						c.(4867-4869)Tat>Cat		sortilin-related receptor, L(DLR class) A repeats containing							191	183	186					11																	121476199		2203	4299	6502	SO:0001583	missense	6653				cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity	g.chr11:121476199T>C	Y08110	CCDS8436.1	11q23.2-q24.4	2014-06-05	2011-01-25		ENSG00000137642	ENSG00000137642		"Fibronectin type III domain containing"	11185	protein-coding gene	gene with protein product	"LDLR relative with 11 ligand-binding repeats"	602005	"chromosome 11 open reading frame 32", "sortilin-related receptor, L(DLR class) A repeats-containing"	C11orf32		9157966, 8940146	Standard	NM_003105		Approved	gp250, LR11, LRP9, SorLA, SorLA-1	uc001pxx.3	Q92673	OTTHUMG00000166057	ENST00000260197.7:c.4867T>C	11.37:g.121476199T>C	ENSP00000260197:p.Tyr1623His					SORL1_ENST00000534286.1_Missense_Mutation_p.Y533H|SORL1_ENST00000527934.1_Missense_Mutation_p.Y238H|SORL1_ENST00000525532.1_Missense_Mutation_p.Y567H|SORL1_ENST00000532694.1_Missense_Mutation_p.Y469H	p.Y1623H	NM_003105.5	NP_003096.1	Q92673	SORL_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)	35	4996	+		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)	1623			Fibronectin type-III 1.		B2RNX7|Q92856	Missense_Mutation	SNP	ENST00000260197.7	37	c.4867T>C	CCDS8436.1	.	.	.	.	.	.	.	.	.	.	T	24.1	4.491638	0.84962	.	.	ENSG00000137642	ENST00000260197;ENST00000525532;ENST00000532694;ENST00000534286;ENST00000527934	D;D;D;D;D	0.89343	-2.5;-2.5;-2.5;-2.5;-2.5	5.7	5.7	0.88788	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.91119	0.7204	L	0.29908	0.895	0.58432	D	0.99999	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.92424	0.5948	10	0.87932	D	0	.	15.636	0.76953	0.0:0.0:0.0:1.0	.	238;1623	E9PKB0;Q92673	.;SORL_HUMAN	H	1623;567;469;533;238	ENSP00000260197:Y1623H;ENSP00000434634:Y567H;ENSP00000432131:Y469H;ENSP00000436447:Y533H;ENSP00000435405:Y238H	ENSP00000260197:Y1623H	Y	+	1	0	SORL1	120981409	1.000000	0.71417	0.573000	0.28510	0.995000	0.86356	7.698000	0.84413	2.168000	0.68352	0.533000	0.62120	TAT		0.448	SORL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387626.2	NM_003105		67	182	0	0	0	1	0	67	182					C	121476199	T	C	121476199	3	2	305	1	0	0	0	0	1	0	0	0	14934	1638	57	4	5005	4	SORL1	11	121476199	Missense_Mutation	SNP	T	TCGA-KK-A59V-01A-11D-A29Q-08	1467957	121476199	13530317	646	15163											
ROBO4	54538	broad.mit.edu	37	chr11	124761327	124761327	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggccagctggggtgggaggcGcctgacagctgggacctggg	5	5	21	10	1	0	1	0	1	0	0	0	3	0	3	3	7	2	2	3	7	0	0			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr11:124761327G>A	ENST00000306534.3	-	12	2301	c.1816C>T	c.(1816-1818)Cgc>Tgc	p.R606C	RP11-664I21.6_ENST00000524433.1_5'UTR|ROBO4_ENST00000533054.1_Missense_Mutation_p.R461C	NM_019055.5	NP_061928.4	Q8WZ75	ROBO4_HUMAN	roundabout, axon guidance receptor, homolog 4 (Drosophila)	606					angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|negative regulation of cell migration (GO:0030336)|regulation of cell migration (GO:0030334)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			NS(2)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(42)|ovary(1)|prostate(4)|skin(5)|urinary_tract(3)	76	all_hematologic(175;0.215)	Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0301)		GGTGGGAGGCGCCTGACAGCT	0.662																																						ENST00000306534.3																			0				NS(2)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(42)|ovary(1)|prostate(4)|skin(5)|urinary_tract(3)	76						c.(1816-1818)Cgc>Tgc		roundabout, axon guidance receptor, homolog 4 (Drosophila)							26	32	30					11																	124761327		2201	4299	6500	SO:0001583	missense	54538				angiogenesis|cell differentiation	integral to membrane	receptor activity	g.chr11:124761327G>A	AF361473	CCDS8455.1, CCDS73409.1	11q24.2	2013-02-11	2011-12-09		ENSG00000154133	ENSG00000154133		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	17985	protein-coding gene	gene with protein product	"magic roundabout"	607528	"roundabout homolog 4 (Drosophila)"			11076864	Standard	NM_019055		Approved	FLJ20798, MRB, ECSM4	uc001qbg.3	Q8WZ75	OTTHUMG00000165936	ENST00000306534.3:c.1816C>T	11.37:g.124761327G>A	ENSP00000304945:p.Arg606Cys					ROBO4_ENST00000533054.1_Missense_Mutation_p.R461C|RP11-664I21.6_ENST00000524433.1_5'UTR	p.R606C	NM_019055.5	NP_061928.4	Q8WZ75	ROBO4_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0301)	12	2301	-	all_hematologic(175;0.215)	Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224)	606					A8K154|Q14DU7|Q8TEG1|Q96JV6|Q9H718|Q9NWJ8	Missense_Mutation	SNP	ENST00000306534.3	37	c.1816C>T	CCDS8455.1	.	.	.	.	.	.	.	.	.	.	G	8.823	0.937980	0.18206	.	.	ENSG00000154133	ENST00000306534;ENST00000374963;ENST00000533054	T;T	0.64991	-0.13;0.24	6.11	1.95	0.26073	.	0.389841	0.19154	N	0.121379	T	0.52468	0.1736	M	0.65975	2.015	0.34129	D	0.665067	B;B;B	0.13145	0.007;0.001;0.004	B;B;B	0.08055	0.002;0.001;0.003	T	0.52094	-0.8621	10	0.33141	T	0.24	.	4.1764	0.10353	0.2735:0.0:0.5689:0.1575	.	606;496;606	Q8WZ75-2;Q8WZ75-3;Q8WZ75	.;.;ROBO4_HUMAN	C	606;496;461	ENSP00000304945:R606C;ENSP00000437129:R461C	ENSP00000304945:R606C	R	-	1	0	ROBO4	124266537	0.937000	0.31787	0.452000	0.26994	0.311000	0.27955	0.378000	0.20569	0.419000	0.25927	-0.137000	0.14449	CGC		0.662	ROBO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387111.1	NM_019055		18	64	0	0	0	1	0	18	64					A	124761327	G	A	124761327	3	1	305	1	0	0	0	0	1	0	0	0	13516	1087	38	1	1235	1	ROBO4	11	124761327	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	3285128	124761327	10245189	647	15164											
KCNJ5	3762	broad.mit.edu	37	chr11	128781963	128781963	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgggctttgacacgggcgaCgaccgcctcttccttgtgtc	4	11	13	13	4	1	1	0	1	1	0	3	3	2	1	3	2	0	1	3	2	0	3			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr11:128781963C>T	ENST00000338350.4	+	3	1147	c.795C>T	c.(793-795)gaC>gaT	p.D265D	KCNJ5_ENST00000529694.1_Silent_p.D265D|KCNJ5_ENST00000533599.1_Silent_p.D265D			P48544	KCNJ5_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 5	265					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	G-protein activated inward rectifier potassium channel activity (GO:0015467)			NS(1)|breast(1)|endometrium(4)|large_intestine(4)|liver(2)|lung(9)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	26	all_hematologic(175;0.0641)	Lung NSC(97;0.00038)|all_lung(97;0.000817)|Breast(109;0.00123)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0059)|LUSC - Lung squamous cell carcinoma(976;0.021)|Lung(977;0.0215)	Glyburide(DB01016)	ACACGGGCGACGACCGCCTCT	0.567																																					Pancreas(108;2548 5082)|Esophageal Squamous(165;4544 6231)	ENST00000529694.1																			0				NS(1)|breast(1)|endometrium(4)|large_intestine(4)|liver(2)|lung(9)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	26						c.(793-795)gaC>gaT		potassium inwardly-rectifying channel, subfamily J, member 5	Glibenclamide(DB01016)						74	81	79					11																	128781963		2201	4297	6498	SO:0001819	synonymous_variant	3762				synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding	g.chr11:128781963C>T	D50134	CCDS8479.1	11q24	2014-09-17				ENSG00000120457		"Potassium channels", "Voltage-gated ion channels / Potassium channels, Inwardly rectifying"	6266	protein-coding gene	gene with protein product		600734				16382105	Standard	NM_000890		Approved	Kir3.4, CIR, KATP1, GIRK4, LQT13	uc001qet.3	P48544		ENST00000338350.4:c.795C>T	11.37:g.128781963C>T						KCNJ5_ENST00000533599.1_Silent_p.D265D|KCNJ5_ENST00000338350.4_Silent_p.D265D	p.D265D	NM_000890.3	NP_000881.3	P48544	IRK5_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.0059)|LUSC - Lung squamous cell carcinoma(976;0.021)|Lung(977;0.0215)	2	1171	+	all_hematologic(175;0.0641)	Lung NSC(97;0.00038)|all_lung(97;0.000817)|Breast(109;0.00123)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)	265					B2R744|Q6DK13|Q6DK14|Q92807	Silent	SNP	ENST00000338350.4	37	c.795C>T	CCDS8479.1																																																																																				0.567	KCNJ5-003	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000386239.1	NM_000890		21	79	0	0	0	1	0	21	79					T	128781963	C	T	128781963	2	4	305	1	0	0	0	0	0	0	0	1	8054	535	19	1		1	KCNJ5	11	128781963	Silent	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	4020636	128781963	6224553	648	15165											
ADAMTS8	11095	broad.mit.edu	37	chr11	130289058	130289058	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cagtgtaagccccccattgtCggacacctctgggccccatt	7	9	9	16	1	1	0	0	0	1	0	2	1	1	1	6	2	1	1	6	2	1	3			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr11:130289058C>T	ENST00000257359.6	-	2	1556	c.850G>A	c.(850-852)Gac>Aac	p.D284N		NM_007037.4	NP_008968.4	Q9UP79	ATS8_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 8	284	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				negative regulation of cell proliferation (GO:0008285)|phosphate ion transmembrane transport (GO:0035435)	proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)|low-affinity phosphate transmembrane transporter activity (GO:0009673)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	10	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.039)|Lung(977;0.213)		CCCCCATTGTCGGACACCTCT	0.552																																						ENST00000257359.6																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	10						c.(850-852)Gac>Aac		ADAM metallopeptidase with thrombospondin type 1 motif, 8							152	160	157					11																	130289058		1980	4171	6151	SO:0001583	missense	11095				negative regulation of cell proliferation|proteolysis	proteinaceous extracellular matrix	heparin binding|integrin binding|low affinity phosphate transmembrane transporter activity|metalloendopeptidase activity|zinc ion binding	g.chr11:130289058C>T	AF060153	CCDS41732.1	11q25	2008-07-18	2005-08-19		ENSG00000134917	ENSG00000134917		"ADAM metallopeptidases with thrombospondin type 1 motif"	224	protein-coding gene	gene with protein product		605175	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 8"			10438512	Standard	NM_007037		Approved	METH2, FLJ41712, ADAM-TS8	uc001qgg.4	Q9UP79	OTTHUMG00000165656	ENST00000257359.6:c.850G>A	11.37:g.130289058C>T	ENSP00000257359:p.Asp284Asn						p.D284N	NM_007037.4	NP_008968.4	Q9UP79	ATS8_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.039)|Lung(977;0.213)	2	1556	-	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)	284			Peptidase M12B.		Q9NZS0	Missense_Mutation	SNP	ENST00000257359.6	37	c.850G>A	CCDS41732.1	.	.	.	.	.	.	.	.	.	.	C	12.23	1.876548	0.33162	.	.	ENSG00000134917	ENST00000257359;ENST00000414575	D	0.86627	-2.15	5.62	4.68	0.58851	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.173127	0.64402	D	0.000007	T	0.79805	0.4509	L	0.31420	0.93	0.38909	D	0.957488	P	0.34757	0.467	B	0.30855	0.121	T	0.77760	-0.2467	10	0.25751	T	0.34	.	16.3103	0.82865	0.0:0.8675:0.1325:0.0	.	284	Q9UP79	ATS8_HUMAN	N	284;313	ENSP00000257359:D284N	ENSP00000257359:D284N	D	-	1	0	ADAMTS8	129794268	0.947000	0.32204	0.793000	0.32043	0.544000	0.35116	1.907000	0.39897	1.308000	0.44962	0.655000	0.94253	GAC		0.552	ADAMTS8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385636.1	NM_007037		76	202	0	0	0	1	0	76	202					T	130289058	C	T	130289058	3	4	305	1	0	0	0	0	1	0	0	0	272	884	31	2	1851	2	ADAMTS8	11	130289058	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	1507095	130289058	4717458	649	15166											
SNX19	399979	broad.mit.edu	37	chr11	130784835	130784835	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	caaatctccctctacagcttCgtggccttcttcaacctctg	7	13	5	16	1	5	0	1	0	4	0	7	0	5	0	3	1	3	1	3	1	3	4	rs143532789		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr11:130784835C>T	ENST00000265909.4	-	1	1569	c.1000G>A	c.(1000-1002)Gaa>Aaa	p.E334K	SNX19_ENST00000539184.1_Intron|SNX19_ENST00000533318.1_Intron|SNX19_ENST00000533214.1_Missense_Mutation_p.E334K|SNX19_ENST00000528555.1_Intron|SNX19_ENST00000530356.1_Intron	NM_014758.2	NP_055573	Q92543	SNX19_HUMAN	sorting nexin 19	334					protein transport (GO:0015031)	cytoplasmic vesicle (GO:0031410)|membrane (GO:0016020)	phosphatidylinositol binding (GO:0035091)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(8)|ovary(3)|prostate(1)|skin(6)|urinary_tract(1)	35	all_hematologic(175;0.0597)	Lung NSC(97;0.000272)|all_lung(97;0.000608)|Breast(109;0.000962)|all_neural(223;0.0298)|Medulloblastoma(222;0.0425)		OV - Ovarian serous cystadenocarcinoma(99;0.0195)|Lung(977;0.233)		TCTACAGCTTCGTGGCCTTCT	0.502													C|||	1	0.000199681	0	0	5008	,	,		20379	0		0.001	False		,,,				2504	0					ENST00000265909.4																			0				central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(8)|ovary(3)|prostate(1)|skin(6)|urinary_tract(1)	35						c.(1000-1002)Gaa>Aaa		sorting nexin 19		C	LYS/GLU	1,4401	2.1+/-5.4	0,1,2200	66	69	68		1000	5.5	1	11	dbSNP_134	68	6,8588	5.0+/-18.6	0,6,4291	yes	missense	SNX19	NM_014758.2	56	0,7,6491	TT,TC,CC		0.0698,0.0227,0.0539	probably-damaging	334/993	130784835	7,12989	2201	4297	6498	SO:0001583	missense	399979				cell communication|protein transport	cytoplasmic vesicle membrane	phosphatidylinositol binding|protein binding	g.chr11:130784835C>T	D87443	CCDS31721.1, CCDS73416.1	11q25	2010-04-20			ENSG00000120451	ENSG00000120451		"Sorting nexins"	21532	protein-coding gene	gene with protein product							Standard	NM_014758		Approved	KIAA0254, CHET8	uc001qgk.4	Q92543	OTTHUMG00000165663	ENST00000265909.4:c.1000G>A	11.37:g.130784835C>T	ENSP00000265909:p.Glu334Lys					SNX19_ENST00000528555.1_Intron|SNX19_ENST00000530356.1_Intron|SNX19_ENST00000533318.1_Intron|SNX19_ENST00000539184.1_Intron|SNX19_ENST00000533214.1_Missense_Mutation_p.E334K	p.E334K	NM_014758.2	NP_055573.2	Q92543	SNX19_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.0195)|Lung(977;0.233)	1	1569	-	all_hematologic(175;0.0597)	Lung NSC(97;0.000272)|all_lung(97;0.000608)|Breast(109;0.000962)|all_neural(223;0.0298)|Medulloblastoma(222;0.0425)	334					E9PKB9|Q8IV55	Missense_Mutation	SNP	ENST00000265909.4	37	c.1000G>A	CCDS31721.1	.	.	.	.	.	.	.	.	.	.	C	24.4	4.528757	0.85706	2.27E-4	6.98E-4	ENSG00000120451	ENST00000265909;ENST00000533214	T;T	0.18657	2.2;2.2	5.48	5.48	0.80851	.	0.508797	0.23910	N	0.043351	T	0.35158	0.0922	L	0.32530	0.975	0.80722	D	1	D;D	0.76494	0.998;0.999	P;D	0.70227	0.695;0.968	T	0.01587	-1.1318	10	0.32370	T	0.25	-16.8307	16.9124	0.86143	0.0:1.0:0.0:0.0	.	334;334	E9PKB9;Q92543	.;SNX19_HUMAN	K	334	ENSP00000265909:E334K;ENSP00000435390:E334K	ENSP00000265909:E334K	E	-	1	0	SNX19	130290045	0.781000	0.28676	1.000000	0.80357	0.983000	0.72400	2.279000	0.43435	2.598000	0.87819	0.644000	0.83932	GAA		0.502	SNX19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385649.1	NM_014758		31	76	0	0	0	1	0	31	76					T	130784835	C	T	130784835	3	4	305	1	0	0	0	0	1	0	0	0	14890	893	31	2	2022	2	SNX19	11	130784835	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	495777	130784835	4221681	650	15167											
VPS26B	112936	broad.mit.edu	37	chr11	134095073	134095074	+	Frame_Shift_Del	DEL	AG	AG	-																															gaaatccttctgaacgatgcAgagagtaggaagcgggccga																										TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr11:134095073_134095074delAG	ENST00000281187.5	+	1	535_536	c.57_58delAG	c.(55-60)gcagagfs	p.E20fs	NCAPD3_ENST00000526422.1_5'Flank|VPS26B_ENST00000525095.2_Frame_Shift_Del_p.E20fs|NCAPD3_ENST00000534548.2_5'Flank	NM_052875.3	NP_443107.1	Q4G0F5	VP26B_HUMAN	vacuolar protein sorting 26 homolog B (S. pombe)	20					protein transport (GO:0015031)	cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)				breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)	14	all_hematologic(175;0.127)	all_cancers(12;1.1e-21)|all_epithelial(12;3.77e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;2.43e-10)|all cancers(11;2.94e-09)|BRCA - Breast invasive adenocarcinoma(10;9.57e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.00164)|Lung(977;0.216)		TGAACGATGCAGAGAGTAGGAA	0.619																																					Colon(171;1263 1952 15904 45703 47982)	ENST00000281187.5																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)	14						c.(55-60)gcagfs		vacuolar protein sorting 26 homolog B (S. pombe)																																				SO:0001589	frameshift_variant	112936				protein transport|vacuolar transport	cytosol|retromer complex		g.chr11:134095073_134095074delAG		CCDS8495.1	11q25	2008-02-05	2007-01-12		ENSG00000151502	ENSG00000151502			28119	protein-coding gene	gene with protein product		610027	"vacuolar protein sorting 26 homolog B (yeast)"			16190980	Standard	NM_052875		Approved	MGC10485, Pep8b	uc001qhe.3	Q4G0F5	OTTHUMG00000167175	ENST00000281187.5:c.57_58delAG	11.37:g.134095077_134095078delAG	ENSP00000281187:p.Glu20fs					VPS26B_ENST00000525095.2_Frame_Shift_Del_p.AE19fs	p.AE19fs	NM_052875.3	NP_443107.1	Q4G0F5	VP26B_HUMAN		Epithelial(10;2.43e-10)|all cancers(11;2.94e-09)|BRCA - Breast invasive adenocarcinoma(10;9.57e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.00164)|Lung(977;0.216)	1	535_536	+	all_hematologic(175;0.127)	all_cancers(12;1.1e-21)|all_epithelial(12;3.77e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)	19					Q96A55	Frame_Shift_Del	DEL	ENST00000281187.5	37	c.57_58delAG	CCDS8495.1																																																																																				0.619	VPS26B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393591.1	NM_052875		14	30						14	30	---	---	---	---	-	134095074	AG	-	134095073	7	5	305	1	0	1	0	1	0	0	0	0	17195	175	7	0	59	0	VPS26B	11	134095073	Frame_Shift_Del	DEL	AG	TCGA-KK-A59V-01A-11D-A29Q-08	3310238	134095073	911443	651	15168											
WNK1	65125	broad.mit.edu	37	chr12	989079	989079	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttctgcagcctgtgactcAgctgccaagtcaggttcacc	7	10	9	15	0	4	1	3	1	1	0	4	1	4	1	4	1	4	3	4	1	1	2			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr12:989079A>G	ENST00000315939.6	+	11	3357	c.2714A>G	c.(2713-2715)cAg>cGg	p.Q905R	WNK1_ENST00000537687.1_Intron|WNK1_ENST00000535572.1_Intron|WNK1_ENST00000530271.2_Missense_Mutation_p.Q1403R|WNK1_ENST00000340908.4_Missense_Mutation_p.Q498R	NM_018979.3	NP_061852.3	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1	905					intracellular signal transduction (GO:0035556)|ion transport (GO:0006811)|negative regulation of pancreatic juice secretion (GO:0090188)|negative regulation of phosphatase activity (GO:0010923)|neuron development (GO:0048666)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of systemic arterial blood pressure (GO:0003084)|protein phosphorylation (GO:0006468)|regulation of cellular process (GO:0050794)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|chloride channel inhibitor activity (GO:0019869)|phosphatase binding (GO:0019902)|protein kinase inhibitor activity (GO:0004860)|protein serine/threonine kinase activity (GO:0004674)			breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			CCTGTGACTCAGCTGCCAAGT	0.542																																					Colon(19;451 567 6672 12618 28860)	ENST00000315939.6																			0				breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104						c.(2713-2715)cAg>cGg		WNK lysine deficient protein kinase 1							127	108	114					12																	989079		2203	4300	6503	SO:0001583	missense	65125				intracellular protein kinase cascade|ion transport|neuron development	cytoplasm	ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity	g.chr12:989079A>G	AJ296290	CCDS8506.1, CCDS53731.1, CCDS73419.1	12p13.3	2014-09-17	2005-01-19	2005-01-21	ENSG00000060237	ENSG00000060237			14540	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 167"	605232	"protein kinase, lysine deficient 1", "hereditary sensory neuropathy, type II"	PRKWNK1, HSN2			Standard	NM_001184985		Approved	HSAN2, PPP1R167	uc031qfk.1	Q9H4A3	OTTHUMG00000090321	ENST00000315939.6:c.2714A>G	12.37:g.989079A>G	ENSP00000313059:p.Gln905Arg					WNK1_ENST00000535572.1_Intron|WNK1_ENST00000340908.4_Missense_Mutation_p.Q498R|WNK1_ENST00000537687.1_Intron|WNK1_ENST00000530271.2_Missense_Mutation_p.Q1403R	p.Q905R	NM_018979.3	NP_061852.3	Q9H4A3	WNK1_HUMAN	Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)		11	3357	+	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		905					A1L4B0|C5HTZ5|C5HTZ6|C5HTZ7|H6WZW3|O15052|P54963|Q4VBX9|Q6IFS5|Q86WL5|Q8N673|Q96CZ6|Q9P1S9	Missense_Mutation	SNP	ENST00000315939.6	37	c.2714A>G	CCDS8506.1	.	.	.	.	.	.	.	.	.	.	A	15.17	2.753456	0.49362	.	.	ENSG00000060237	ENST00000315939;ENST00000530271;ENST00000340908;ENST00000535698	T;T;T;T	0.19250	2.16;2.16;2.16;2.16	5.63	5.63	0.86233	.	0.000000	0.56097	D	0.000022	T	0.34629	0.0904	L	0.32530	0.975	0.40591	D	0.981485	D	0.57899	0.981	D	0.67900	0.954	T	0.10337	-1.0634	10	0.59425	D	0.04	-8.2053	14.4097	0.67106	1.0:0.0:0.0:0.0	.	905	Q9H4A3	WNK1_HUMAN	R	905;1403;498;175	ENSP00000313059:Q905R;ENSP00000433548:Q1403R;ENSP00000341292:Q498R;ENSP00000439552:Q175R	ENSP00000313059:Q905R	Q	+	2	0	WNK1	859340	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	4.294000	0.59043	2.134000	0.65973	0.455000	0.32223	CAG		0.542	WNK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206683.1	NM_018979		5	100	0	0	0	1	0	5	100					G	989079	A	G	989079	3	3	305	1	0	0	0	0	1	0	0	0	17374	188	7	4	4258	4	WNK1	12	989079	Missense_Mutation	SNP	A	TCGA-KK-A59V-01A-11D-A29Q-08		989079	132862816	652	15169											
WNK1	65125	broad.mit.edu	37	chr12	1017928	1017928	+	Frame_Shift_Del	DEL	C	C	-																															ttgcagaaatccatcagcaaCcccccaggctccaacctgcg																								rs201636547		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr12:1017928delC	ENST00000315939.6	+	28	7762	c.7119delC	c.(7117-7119)aacfs	p.N2373fs	WNK1_ENST00000537687.1_Frame_Shift_Del_p.N2633fs|WNK1_ENST00000535572.1_Frame_Shift_Del_p.N2125fs|WNK1_ENST00000530271.2_Frame_Shift_Del_p.N2871fs|WNK1_ENST00000340908.4_Frame_Shift_Del_p.N1966fs	NM_018979.3	NP_061852.3	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1	2373					intracellular signal transduction (GO:0035556)|ion transport (GO:0006811)|negative regulation of pancreatic juice secretion (GO:0090188)|negative regulation of phosphatase activity (GO:0010923)|neuron development (GO:0048666)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of systemic arterial blood pressure (GO:0003084)|protein phosphorylation (GO:0006468)|regulation of cellular process (GO:0050794)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|chloride channel inhibitor activity (GO:0019869)|phosphatase binding (GO:0019902)|protein kinase inhibitor activity (GO:0004860)|protein serine/threonine kinase activity (GO:0004674)			breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			CCATCAGCAACCCCCCAGGCT	0.562																																					Colon(19;451 567 6672 12618 28860)	ENST00000537687.1																			0				breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104						c.(7897-7899)aafs		WNK lysine deficient protein kinase 1							54	58	56					12																	1017928		2203	4300	6503	SO:0001589	frameshift_variant	65125				intracellular protein kinase cascade|ion transport|neuron development	cytoplasm	ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity	g.chr12:1017928delC	AJ296290	CCDS8506.1, CCDS53731.1, CCDS73419.1	12p13.3	2014-09-17	2005-01-19	2005-01-21	ENSG00000060237	ENSG00000060237			14540	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 167"	605232	"protein kinase, lysine deficient 1", "hereditary sensory neuropathy, type II"	PRKWNK1, HSN2			Standard	NM_001184985		Approved	HSAN2, PPP1R167	uc031qfk.1	Q9H4A3	OTTHUMG00000090321	ENST00000315939.6:c.7119delC	12.37:g.1017928delC	ENSP00000313059:p.Asn2373fs					WNK1_ENST00000340908.4_Frame_Shift_Del_p.N1966fs|WNK1_ENST00000535572.1_Frame_Shift_Del_p.N2125fs|WNK1_ENST00000530271.2_Frame_Shift_Del_p.N2871fs|WNK1_ENST00000315939.6_Frame_Shift_Del_p.N2373fs	p.N2633fs	NM_001184985.1|NM_213655.4	NP_001171914.1|NP_998820.3	Q9H4A3	WNK1_HUMAN	Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)		28	8542	+	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		2373					A1L4B0|C5HTZ5|C5HTZ6|C5HTZ7|H6WZW3|O15052|P54963|Q4VBX9|Q6IFS5|Q86WL5|Q8N673|Q96CZ6|Q9P1S9	Frame_Shift_Del	DEL	ENST00000315939.6	37	c.7899delC	CCDS8506.1																																																																																				0.562	WNK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206683.1	NM_018979		27	63						27	63	---	---	---	---	-	1017928	C	-	1017928	7	5	305	1	0	1	0	1	0	0	0	0	17374	506	18	0	8731	0	WNK1	12	1017928	Frame_Shift_Del	DEL	C	TCGA-KK-A59V-01A-11D-A29Q-08	28849	1017928	132833967	653	15170											
KCNA5	3741	broad.mit.edu	37	chr12	5154041	5154041	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggcttatcttcgagtatcCggagagctctgggtccgcgc	5	11	14	11	4	2	1	0	0	2	1	5	3	4	1	2	3	1	3	2	3	2	3			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr12:5154041C>T	ENST00000252321.3	+	1	957	c.728C>T	c.(727-729)cCg>cTg	p.P243L		NM_002234.3	NP_002225.2	P22460	KCNA5_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 5	243					atrial cardiac muscle cell action potential (GO:0086014)|membrane hyperpolarization (GO:0060081)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|negative regulation of potassium ion transport (GO:0043267)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of myoblast proliferation (GO:2000288)|potassium ion export (GO:0071435)|potassium ion homeostasis (GO:0055075)|potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of insulin secretion (GO:0050796)|regulation of membrane potential (GO:0042391)|regulation of potassium ion transport (GO:0043266)|regulation of vasoconstriction (GO:0019229)|response to hypoxia (GO:0001666)|synaptic transmission (GO:0007268)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|intracellular canaliculus (GO:0046691)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|delayed rectifier potassium channel activity (GO:0005251)|outward rectifier potassium channel activity (GO:0015271)|potassium channel inhibitor activity (GO:0019870)|protein kinase binding (GO:0019901)|scaffold protein binding (GO:0097110)|voltage-gated potassium channel activity involved in atrial cardiac muscle cell action potential repolarization (GO:0086089)			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(1)|lung(21)|ovary(5)|prostate(2)|upper_aerodigestive_tract(2)	52					Dalfampridine(DB06637)	TTCGAGTATCCGGAGAGCTCT	0.587																																						ENST00000252321.3																			0				NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(1)|lung(21)|ovary(5)|prostate(2)|upper_aerodigestive_tract(2)	52						c.(727-729)cCg>cTg		potassium voltage-gated channel, shaker-related subfamily, member 5							97	108	104					12																	5154041		2203	4300	6503	SO:0001583	missense	3741					Golgi apparatus|voltage-gated potassium channel complex	delayed rectifier potassium channel activity	g.chr12:5154041C>T	M83254	CCDS8536.1	12p13	2012-07-05				ENSG00000130037		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6224	protein-coding gene	gene with protein product		176267				16382104	Standard	NM_002234		Approved	Kv1.5, HK2, HPCN1	uc001qni.4	P22460		ENST00000252321.3:c.728C>T	12.37:g.5154041C>T	ENSP00000252321:p.Pro243Leu						p.P243L	NM_002234.3	NP_002225.2	P22460	KCNA5_HUMAN			1	957	+			243					Q4KKT8|Q4VAJ1|Q4VAJ2|Q9UDA4	Missense_Mutation	SNP	ENST00000252321.3	37	c.728C>T	CCDS8536.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.307838	0.81247	.	.	ENSG00000130037	ENST00000252321	T	0.69685	-0.42	4.77	4.77	0.60923	.	0.000000	0.85682	U	0.000000	D	0.88332	0.6408	H	0.97516	4.02	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.92534	0.6036	10	0.87932	D	0	.	16.9696	0.86295	0.0:1.0:0.0:0.0	.	243	P22460	KCNA5_HUMAN	L	243	ENSP00000252321:P243L	ENSP00000252321:P243L	P	+	2	0	KCNA5	5024302	1.000000	0.71417	0.891000	0.34965	0.980000	0.70556	7.584000	0.82572	2.478000	0.83669	0.561000	0.74099	CCG		0.587	KCNA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398925.2	NM_002234		50	132	0	0	0	1	0	50	132					T	5154041	C	T	5154041	3	4	305	1	0	0	0	0	1	0	0	0	8006	652	23	2	730	2	KCNA5	12	5154041	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	4136113	5154041	128697854	654	15171											
VWF	7450	broad.mit.edu	37	chr12	6161936	6161936	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgcaggtacacctggcctttCgggcagttcagctctagaag	8	10	12	11	1	2	1	1	0	1	1	3	1	2	1	2	3	3	5	2	3	3	4			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr12:6161936C>T	ENST00000261405.5	-	16	2213	c.1959G>A	c.(1957-1959)ccG>ccA	p.P653P		NM_000552.3	NP_000543	P04275	VWF_HUMAN	von Willebrand factor	653	TIL 2.				blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|cell-substrate adhesion (GO:0031589)|extracellular matrix organization (GO:0030198)|hemostasis (GO:0007599)|liver development (GO:0001889)|placenta development (GO:0001890)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|protein homooligomerization (GO:0051260)|response to wounding (GO:0009611)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|proteinaceous extracellular matrix (GO:0005578)|Weibel-Palade body (GO:0033093)	chaperone binding (GO:0051087)|collagen binding (GO:0005518)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|immunoglobulin binding (GO:0019865)|integrin binding (GO:0005178)|protease binding (GO:0002020)|protein homodimerization activity (GO:0042803)|protein N-terminus binding (GO:0047485)			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	CCTGGCCTTTCGGGCAGTTCA	0.582																																						ENST00000261405.5																			0				NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129						c.(1957-1959)ccG>ccA		von Willebrand factor	Antihemophilic Factor(DB00025)																																			SO:0001819	synonymous_variant	7450				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding	g.chr12:6161936C>T		CCDS8539.1	12p13.3	2014-09-17			ENSG00000110799	ENSG00000110799		"Endogenous ligands"	12726	protein-coding gene	gene with protein product		613160		F8VWF		2251280	Standard	NM_000552		Approved		uc001qnn.1	P04275	OTTHUMG00000168265	ENST00000261405.5:c.1959G>A	12.37:g.6161936C>T							p.P653P	NM_000552.3	NP_000543.2	P04275	VWF_HUMAN			16	2213	-			653			TIL 2.		Q8TCE8|Q99806	Silent	SNP	ENST00000261405.5	37	c.1959G>A	CCDS8539.1																																																																																				0.582	VWF-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399020.1	NM_000552		9	18	0	0	0	1	0	9	18					T	6161936	C	T	6161936	2	4	305	1	0	0	0	0	0	0	0	1	17243	871	31	2		2	VWF	12	6161936	Silent	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	1007895	6161936	127689959	655	15172											
CHD4	1108	broad.mit.edu	37	chr12	6701672	6701672	+	Frame_Shift_Del	DEL	T	T	-																															ggccccagcatgtcatgcagTttttttatctggtcctcctt																										TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr12:6701672delT	ENST00000357008.2	-	19	2998	c.2835delA	c.(2833-2835)aaafs	p.K945fs	CHD4_ENST00000544484.1_Frame_Shift_Del_p.K942fs|CHD4_ENST00000544040.1_Frame_Shift_Del_p.K938fs|CHD4_ENST00000309577.6_Frame_Shift_Del_p.K945fs	NM_001273.2	NP_001264.2	Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	945					ATP-dependent chromatin remodeling (GO:0043044)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|spindle assembly (GO:0051225)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|NuRD complex (GO:0016581)|protein complex (GO:0043234)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|RNA polymerase II repressing transcription factor binding (GO:0001103)|zinc ion binding (GO:0008270)			central_nervous_system(2)	2						TGTCATGCAGTTTTTTTATCT	0.458																																					Colon(32;586 792 4568 16848 45314)	ENST00000309577.6																			0				central_nervous_system(2)	2						c.(2833-2835)aafs		chromodomain helicase DNA binding protein 4							94	95	95					12																	6701672		2203	4300	6503	SO:0001589	frameshift_variant	1108				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding	g.chr12:6701672delT	X86691	CCDS8552.1	12p13	2013-01-28				ENSG00000111642		"Zinc fingers, PHD-type"	1919	protein-coding gene	gene with protein product		603277				7575689, 8843877	Standard	XM_006718958		Approved	Mi-2b, Mi2-BETA	uc001qpo.3	Q14839		ENST00000357008.2:c.2835delA	12.37:g.6701672delT	ENSP00000349508:p.Lys945fs					CHD4_ENST00000544484.1_Frame_Shift_Del_p.K942fs|CHD4_ENST00000357008.2_Frame_Shift_Del_p.K945fs|CHD4_ENST00000544040.1_Frame_Shift_Del_p.K938fs	p.K945fs			Q14839	CHD4_HUMAN			19	2998	-			945					Q8IXZ5	Frame_Shift_Del	DEL	ENST00000357008.2	37	c.2835delA	CCDS8552.1																																																																																				0.458	CHD4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001273		36	117						36	117	---	---	---	---	-	6701672	T	-	6701672	7	5	305	1	0	1	0	1	0	0	0	0	3327	1722	60	0	2991	0	CHD4	12	6701672	Frame_Shift_Del	DEL	T	TCGA-KK-A59V-01A-11D-A29Q-08	539736	6701672	127150223	656	15173											
C3AR1	719	broad.mit.edu	37	chr12	8212678	8212678	+	Frame_Shift_Del	DEL	A	A	-																															cattgcctggcaatcccagtAaaaaagtaaggctgagaatg																										TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr12:8212678delA	ENST00000307637.4	-	2	307	c.104delT	c.(103-105)ttafs	p.L36fs		NM_004054.2	NP_004045.1	Q16581	C3AR_HUMAN	complement component 3a receptor 1	36					blood circulation (GO:0008015)|chemotaxis (GO:0006935)|complement receptor mediated signaling pathway (GO:0002430)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|metabolic process (GO:0008152)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of macrophage chemotaxis (GO:0010759)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation vascular endothelial growth factor production (GO:0010575)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	C3a anaphylatoxin receptor activity (GO:0004943)|complement component C3a receptor activity (GO:0004876)|G-protein coupled receptor activity (GO:0004930)|phosphatidylinositol phospholipase C activity (GO:0004435)			breast(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)	20				Kidney(36;0.0893)		CAATCCCAGTAAAAAAGTAAG	0.527																																						ENST00000307637.4																			0				breast(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)	20						c.(103-105)tafs		complement component 3a receptor 1							71	73	73					12																	8212678		2203	4300	6503	SO:0001589	frameshift_variant	719				blood circulation|chemotaxis|elevation of cytosolic calcium ion concentration|inflammatory response	integral to plasma membrane	C3a anaphylatoxin receptor activity|complement component C3a receptor activity|phosphatidylinositol phospholipase C activity	g.chr12:8212678delA	U28488	CCDS8588.1	12p13.31	2012-08-10				ENSG00000171860		"Complement system", "GPCR / Class A : Complement component receptors"	1319	protein-coding gene	gene with protein product		605246				8605247	Standard	NM_004054		Approved	C3AR, AZ3B	uc001qtv.1	Q16581		ENST00000307637.4:c.104delT	12.37:g.8212678delA	ENSP00000302079:p.Leu36fs						p.L36fs	NM_004054.2	NP_004045.1	Q16581	C3AR_HUMAN		Kidney(36;0.0893)	2	307	-			36					O43771|Q92868	Frame_Shift_Del	DEL	ENST00000307637.4	37	c.104delT	CCDS8588.1																																																																																				0.527	C3AR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400254.1			32	97						32	97	---	---	---	---	-	8212678	A	-	8212678	7	5	305	1	0	1	0	1	0	0	0	0	2205	372	13	0	1348	0	C3AR1	12	8212678	Frame_Shift_Del	DEL	A	TCGA-KK-A59V-01A-11D-A29Q-08	1511006	8212678	125639217	657	15174											
FAM90A1	55138	broad.mit.edu	37	chr12	8375299	8375299	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggagcccctgtcagacatttCggtagctgagcgatcagaga	10	8	13	10	2	2	3	2	1	0	2	3	6	2	4	2	2	3	2	2	2	1	2	rs562876348		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr12:8375299C>T	ENST00000538603.1	-	7	1072	c.514G>A	c.(514-516)Gaa>Aaa	p.E172K	FAM90A1_ENST00000307435.6_Missense_Mutation_p.E172K	NM_018088.3	NP_060558.3	Q86YD7	F90A1_HUMAN	family with sequence similarity 90, member A1	172							nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	25				Kidney(36;0.0866)		TCAGACATTTCGGTAGCTGAG	0.552																																						ENST00000538603.1																			0				endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	25						c.(514-516)Gaa>Aaa		family with sequence similarity 90, member A1							31	44	39					12																	8375299		2050	3918	5968	SO:0001583	missense	55138						nucleic acid binding|zinc ion binding	g.chr12:8375299C>T	AK001270	CCDS31738.1	12p13.31	2011-08-31		2005-11-20	ENSG00000171847	ENSG00000171847			25526	protein-coding gene	gene with protein product		613041					Standard	NM_018088		Approved	FLJ10408	uc001qui.2	Q86YD7	OTTHUMG00000168641	ENST00000538603.1:c.514G>A	12.37:g.8375299C>T	ENSP00000445418:p.Glu172Lys					FAM90A1_ENST00000307435.6_Missense_Mutation_p.E172K	p.E172K	NM_018088.3	NP_060558.3	Q86YD7	F90A1_HUMAN		Kidney(36;0.0866)	7	1072	-			172					D3DUU9|Q9NVZ6	Missense_Mutation	SNP	ENST00000538603.1	37	c.514G>A	CCDS31738.1	.	.	.	.	.	.	.	.	.	.	.	0.003	-2.535919	0.00143	.	.	ENSG00000171847	ENST00000307435;ENST00000538603	T;T	0.14266	2.52;2.52	0.444	-0.888	0.10583	.	.	.	.	.	T	0.04227	0.0117	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.38200	-0.9672	8	0.06757	T	0.87	5.0499	.	.	.	.	172	Q86YD7	F90A1_HUMAN	K	172	ENSP00000307798:E172K;ENSP00000445418:E172K	ENSP00000307798:E172K	E	-	1	0	FAM90A1	8266566	0.011000	0.17503	0.000000	0.03702	0.008000	0.06430	-0.787000	0.04618	-3.279000	0.00197	-2.551000	0.00177	GAA		0.552	FAM90A1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400468.1	NM_018088		20	58	0	0	0	1	0	20	58					T	8375299	C	T	8375299	3	4	305	1	0	0	0	0	1	0	0	0	5650	893	31	2	884	2	FAM90A1	12	8375299	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	162621	8375299	125476596	658	15175											
A2M	2	broad.mit.edu	37	chr12	9227323	9227323	+	Frame_Shift_Del	DEL	A	A	-																															agagggagcctggggttcgtAaaaatgccccactggtgcct																										TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr12:9227323delA	ENST00000318602.7	-	29	3896	c.3589delT	c.(3589-3591)tacfs	p.Y1197fs		NM_000014.4	NP_000005	P01023	A2MG_HUMAN	alpha-2-macroglobulin	1197					blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of complement activation, lectin pathway (GO:0001869)|negative regulation of endopeptidase activity (GO:0010951)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|stem cell differentiation (GO:0048863)	blood microparticle (GO:0072562)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule lumen (GO:0031093)	calcium-dependent protein binding (GO:0048306)|enzyme binding (GO:0019899)|growth factor binding (GO:0019838)|interleukin-1 binding (GO:0019966)|interleukin-8 binding (GO:0019959)|protease binding (GO:0002020)|receptor binding (GO:0005102)|serine-type endopeptidase inhibitor activity (GO:0004867)|tumor necrosis factor binding (GO:0043120)			breast(1)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(17)|lung(30)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	77					Bacitracin(DB00626)|Becaplermin(DB00102)|Ocriplasmin(DB08888)	TGGGGTTCGTAAAAATGCCCC	0.512																																						ENST00000318602.7																			0				breast(1)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(17)|lung(30)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	77						c.(3589-3591)acfs		alpha-2-macroglobulin	Bacitracin(DB00626)|Becaplermin(DB00102)						56	60	58					12																	9227323		2203	4300	6503	SO:0001589	frameshift_variant	2				blood coagulation, intrinsic pathway|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|extracellular space|platelet alpha granule lumen	enzyme binding|GTPase activator activity|interleukin-1 binding|interleukin-8 binding|serine-type endopeptidase inhibitor activity|tumor necrosis factor binding	g.chr12:9227323delA	BX647329, X68728, M11313	CCDS44827.1	12p13.31	2010-02-24			ENSG00000175899	ENSG00000175899			7	protein-coding gene	gene with protein product		103950					Standard	XM_006719056		Approved	FWP007, S863-7, CPAMD5	uc001qvk.1	P01023	OTTHUMG00000150267	ENST00000318602.7:c.3589delT	12.37:g.9227323delA	ENSP00000323929:p.Tyr1197fs						p.Y1197fs	NM_000014.4	NP_000005.2	P01023	A2MG_HUMAN			29	3896	-			1197					Q13677|Q59F47|Q5QTS0|Q68DN2|Q6PIY3|Q6PN97	Frame_Shift_Del	DEL	ENST00000318602.7	37	c.3589delT	CCDS44827.1																																																																																				0.512	A2M-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317233.2	NM_000014		7	36						7	36	---	---	---	---	-	9227323	A	-	9227323	7	5	305	1	0	1	0	1	0	0	0	0	4	362	13	0	867	0	A2M	12	9227323	Frame_Shift_Del	DEL	A	TCGA-KK-A59V-01A-11D-A29Q-08	852024	9227323	124624572	659	15176											
TAS2R46	259292	broad.mit.edu	37	chr12	11214013	11214013	+	Frame_Shift_Del	DEL	A	A	-																															cccagtacctcacatgccacAaaactgaaagaaaagtctgc																										TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr12:11214013delA	ENST00000533467.1	-	1	880	c.881delT	c.(880-882)ttgfs	p.L294fs	PRR4_ENST00000536668.1_Intron|TAS2R14_ENST00000381852.4_Intron	NM_176887.2	NP_795368.2	P59540	T2R46_HUMAN	taste receptor, type 2, member 46	294					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)	cilium (GO:0005929)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	12			OV - Ovarian serous cystadenocarcinoma(49;0.0344)	BRCA - Breast invasive adenocarcinoma(232;0.196)		CACATGCCACAAAACTGAAAG	0.413																																						ENST00000533467.1																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	12						c.(880-882)tgfs		taste receptor, type 2, member 46							187	188	188					12																	11214013		2041	4242	6283	SO:0001589	frameshift_variant	259292				sensory perception of taste	cilium membrane|integral to membrane	G-protein coupled receptor activity	g.chr12:11214013delA	AF494227	CCDS53748.1	12p13.2	2012-08-22				ENSG00000226761		"Taste receptors / Type 2", "GPCR / Unclassified : Taste receptors"	18877	protein-coding gene	gene with protein product		612774				12379855	Standard	NM_176887		Approved	T2R54	uc001qzp.1	P59540		ENST00000533467.1:c.881delT	12.37:g.11214013delA	ENSP00000436450:p.Leu294fs					PRR4_ENST00000536668.1_Intron|TAS2R14_ENST00000381852.4_Intron	p.L294fs	NM_176887.2	NP_795368.2	P59540	T2R46_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;0.0344)	BRCA - Breast invasive adenocarcinoma(232;0.196)	1	880	-			294					P59548|Q645X6	Frame_Shift_Del	DEL	ENST00000533467.1	37	c.881delT	CCDS53748.1																																																																																				0.413	TAS2R46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383559.1	NM_176887		12	273						12	273	---	---	---	---	-	11214013	A	-	11214013	7	5	305	1	0	1	0	1	0	0	0	0	15579	131	5	0	52	0	TAS2R46	12	11214013	Frame_Shift_Del	DEL	A	TCGA-KK-A59V-01A-11D-A29Q-08	1986690	11214013	122637882	660	15177											
CREBL2	1389	broad.mit.edu	37	chr12	12788823	12788823	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgcaagagaatgccgagcccGaaaaaagctgagatatcagt	16	6	11	8	2	1	2	1	1	0	2	1	6	1	2	2	0	4	2	2	0	6	1			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr12:12788823G>A	ENST00000228865.2	+	2	409	c.128G>A	c.(127-129)cGa>cAa	p.R43Q	CREBL2_ENST00000540224.1_3'UTR	NM_001310.2	NP_001301.1	O60519	CRBL2_HUMAN	cAMP responsive element binding protein-like 2	43	Basic motif. {ECO:0000250}.|bZIP.				cell cycle (GO:0007049)|cell differentiation (GO:0030154)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of glucose import (GO:0046326)|positive regulation of lipid biosynthetic process (GO:0046889)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			large_intestine(1)	1		Prostate(47;0.0684)		BRCA - Breast invasive adenocarcinoma(232;0.0503)		TGCCGAGCCCGAAAAAAGCTG	0.463																																						ENST00000228865.2																			0				large_intestine(1)	1						c.(127-129)cGa>cAa		cAMP responsive element binding protein-like 2							56	59	58					12																	12788823		2203	4300	6503	SO:0001583	missense	1389				cell cycle|signal transduction	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr12:12788823G>A	AF039081	CCDS8651.1	12p13.2	2013-01-10			ENSG00000111269	ENSG00000111269		"basic leucine zipper proteins"	2350	protein-coding gene	gene with protein product		603476				9693048	Standard	NM_001310		Approved		uc001rap.1	O60519	OTTHUMG00000168704	ENST00000228865.2:c.128G>A	12.37:g.12788823G>A	ENSP00000228865:p.Arg43Gln					CREBL2_ENST00000540224.1_3'UTR	p.R43Q	NM_001310.2	NP_001301.1	O60519	CRBL2_HUMAN		BRCA - Breast invasive adenocarcinoma(232;0.0503)	2	409	+		Prostate(47;0.0684)	43					B5BUM5	Missense_Mutation	SNP	ENST00000228865.2	37	c.128G>A	CCDS8651.1	.	.	.	.	.	.	.	.	.	.	G	27.8	4.859939	0.91433	.	.	ENSG00000111269	ENST00000228865	D	0.94828	-3.53	5.62	5.62	0.85841	Basic leucine zipper (1);	0.000000	0.85682	D	0.000000	D	0.96836	0.8967	M	0.64170	1.965	0.46317	D	0.99898	D	0.71674	0.998	D	0.76575	0.988	D	0.97096	0.9794	10	0.87932	D	0	-23.7293	19.646	0.95777	0.0:0.0:1.0:0.0	.	43	O60519	CRBL2_HUMAN	Q	43	ENSP00000228865:R43Q	ENSP00000228865:R43Q	R	+	2	0	CREBL2	12680090	1.000000	0.71417	0.985000	0.45067	0.448000	0.32197	9.368000	0.97152	2.648000	0.89879	0.484000	0.47621	CGA		0.463	CREBL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400660.1	NM_001310		13	31	0	0	0	1	0	13	31					A	12788823	G	A	12788823	3	1	305	1	0	0	0	0	1	0	0	0	3862	1058	37	2	134	2	CREBL2	12	12788823	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	1574810	12788823	121063072	661	15178											
CDKN1B	1027	broad.mit.edu	37	chr12	12870961	12870962	+	Frame_Shift_Ins	INS	-	-	T																															cagcgcaagtggaatttcgaINSttttcagaatcacaaacccc																										TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr12:12870961_12870962insT	ENST00000228872.4	+	1	904_905	c.188_189insT	c.(187-192)gattttfs	p.DF63fs	CDKN1B_ENST00000396340.1_Frame_Shift_Ins_p.DF63fs|CDKN1B_ENST00000477087.1_Intron	NM_004064.3	NP_004055.1	P46527	CDN1B_HUMAN	cyclin-dependent kinase inhibitor 1B (p27, Kip1)	63					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|autophagic cell death (GO:0048102)|cell cycle arrest (GO:0007050)|cellular response to antibiotic (GO:0071236)|cellular response to lithium ion (GO:0071285)|cellular response to organic cyclic compound (GO:0071407)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G1/S transition of mitotic cell cycle (GO:0000082)|innate immune response (GO:0045087)|inner ear development (GO:0048839)|mitotic cell cycle (GO:0000278)|mitotic cell cycle arrest (GO:0071850)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cellular component movement (GO:0051271)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|negative regulation of kinase activity (GO:0033673)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of phosphorylation (GO:0042326)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell death (GO:0010942)|positive regulation of cell proliferation (GO:0008284)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of protein catabolic process (GO:0045732)|potassium ion transport (GO:0006813)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|response to amino acid (GO:0043200)|response to cadmium ion (GO:0046686)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to glucose (GO:0009749)|response to hypoxia (GO:0001666)|response to peptide hormone (GO:0043434)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|protein phosphatase binding (GO:0019903)|transforming growth factor beta receptor, cytoplasmic mediator activity (GO:0005072)			breast(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(5)	13		Prostate(47;0.0322)|all_epithelial(100;0.159)		BRCA - Breast invasive adenocarcinoma(232;0.0336)		TGGAATTTCGATTTTCAGAATC	0.574																																						ENST00000228872.4																			0				breast(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(5)	13						c.(187-189)gttfs		cyclin-dependent kinase inhibitor 1B (p27, Kip1)																																				SO:0001589	frameshift_variant	1027				autophagic cell death|cell cycle arrest|cellular response to lithium ion|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of transcription, DNA-dependent|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of protein catabolic process|S phase of mitotic cell cycle	cytosol|endosome|nucleoplasm	cyclin-dependent protein kinase inhibitor activity|protein phosphatase binding|transforming growth factor beta receptor, cytoplasmic mediator activity	g.chr12:12870961_12870962insT	AF480891	CCDS8653.1	12p13.1-p12	2008-08-04			ENSG00000111276	ENSG00000111276			1785	protein-coding gene	gene with protein product		600778				8033212	Standard	NM_004064		Approved	KIP1, P27KIP1	uc001rat.2	P46527	OTTHUMG00000149914	ENST00000228872.4:c.192dupT	12.37:g.12870965_12870965dupT	ENSP00000228872:p.Asp63fs					CDKN1B_ENST00000477087.1_Intron|CDKN1B_ENST00000396340.1_Frame_Shift_Ins_p.V63fs	p.V63fs	NM_004064.3	NP_004055.1	P46527	CDN1B_HUMAN		BRCA - Breast invasive adenocarcinoma(232;0.0336)	1	904_905	+		Prostate(47;0.0322)|all_epithelial(100;0.159)	63					Q16307|Q5U0H2|Q9BUS6	Frame_Shift_Ins	INS	ENST00000228872.4	37	c.188_189insT	CCDS8653.1																																																																																				0.574	CDKN1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313878.2	NM_004064		38	138						38	138	---	---	---	---	T	12870962	-	T	12870961	7	5	305	1	0	1	1	0	0	0	0	0	3159	333	12	0	190	0	CDKN1B	12	12870961	Frame_Shift_Ins	INS	-	TCGA-KK-A59V-01A-11D-A29Q-08	82138	12870961	120980934	662	15179											
GUCY2C	2984	broad.mit.edu	37	chr12	14781608	14781608	+	Frame_Shift_Del	DEL	T	T	-																															cttggcaagtgtagtctcaaTttttttgaaatctggtctct																								rs145875994	byFrequency	TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr12:14781608delT	ENST00000261170.3	-	20	2357	c.2221delA	c.(2221-2223)attfs	p.I741fs		NM_004963.3	NP_004954.2	P25092	GUC2C_HUMAN	guanylate cyclase 2C (heat stable enterotoxin receptor)	741	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				intracellular signal transduction (GO:0035556)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of cell proliferation (GO:0042127)|response to toxic substance (GO:0009636)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|protein kinase activity (GO:0004672)|toxic substance binding (GO:0015643)			breast(3)|endometrium(7)|kidney(3)|large_intestine(9)|lung(17)|ovary(4)|skin(7)|urinary_tract(1)	51					Linaclotide(DB08890)	GTAGTCTCAATTTTTTTGAAA	0.348																																						ENST00000261170.3																			0				breast(3)|endometrium(7)|kidney(3)|large_intestine(9)|lung(17)|ovary(4)|skin(7)|urinary_tract(1)	51						c.(2221-2223)ttfs		guanylate cyclase 2C (heat stable enterotoxin receptor)							137	149	145					12																	14781608		2202	4299	6501	SO:0001589	frameshift_variant	2984				intracellular signal transduction|receptor guanylyl cyclase signaling pathway	integral to membrane	ATP binding|GTP binding|guanylate cyclase activity|protein binding|protein kinase activity|receptor activity	g.chr12:14781608delT		CCDS8664.1	12p12	2008-08-18			ENSG00000070019	ENSG00000070019			4688	protein-coding gene	gene with protein product		601330		GUC2C		8661067	Standard	NM_004963		Approved	STAR	uc001rcd.3	P25092	OTTHUMG00000168732	ENST00000261170.3:c.2221delA	12.37:g.14781608delT	ENSP00000261170:p.Ile741fs						p.I741fs	NM_004963.3	NP_004954.2	P25092	GUC2C_HUMAN			20	2357	-			741			Protein kinase.		B2RMY6	Frame_Shift_Del	DEL	ENST00000261170.3	37	c.2221delA	CCDS8664.1																																																																																				0.348	GUCY2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400835.1			33	66						33	66	---	---	---	---	-	14781608	T	-	14781608	7	5	305	1	0	1	0	1	0	0	0	0	6896	1493	52	0	1032	0	GUCY2C	12	14781608	Frame_Shift_Del	DEL	T	TCGA-KK-A59V-01A-11D-A29Q-08	1910647	14781608	119070287	663	15180											
H2AFJ	55766	broad.mit.edu	37	chr12	14927707	14927707	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aacaagctgctgggcaaagtGaccatcgctcagggcggcgt	10	6	14	11	3	1	1	1	1	0	0	2	1	1	1	1	3	3	4	1	3	3	0			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr12:14927707G>A	ENST00000544848.1	+	1	438	c.303G>A	c.(301-303)gtG>gtA	p.V101V		NM_177925.2	NP_808760.1	Q9BTM1	H2AJ_HUMAN	H2A histone family, member J	101						extracellular vesicular exosome (GO:0070062)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|central_nervous_system(1)|kidney(1)|ovary(1)|skin(1)	5						TGGGCAAAGTGACCATCGCTC	0.607																																						ENST00000544848.1																			0				NS(1)|central_nervous_system(1)|kidney(1)|ovary(1)|skin(1)	5						c.(301-303)gtG>gtA		H2A histone family, member J							75	74	75					12																	14927707		2203	4300	6503	SO:0001819	synonymous_variant	55766				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr12:14927707G>A	AK001765	CCDS31752.1	12p12.3	2012-09-11			ENSG00000246705	ENSG00000246705		"Histones / Replication-independent"	14456	protein-coding gene	gene with protein product							Standard	NM_177925		Approved	FLJ10903, MGC921	uc009zia.3	Q9BTM1	OTTHUMG00000168736	ENST00000544848.1:c.303G>A	12.37:g.14927707G>A							p.V101V	NM_177925.2	NP_808760.1	Q9BTM1	H2AJ_HUMAN			1	438	+			101					Q9NV63	Silent	SNP	ENST00000544848.1	37	c.303G>A	CCDS31752.1																																																																																				0.607	H2AFJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400845.1	NM_177925		5	152	0	0	0	1	0	5	152					A	14927707	G	A	14927707	2	1	305	1	0	0	0	0	0	0	0	1	6926	1277	45	3		3	H2AFJ	12	14927707	Silent	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	146099	14927707	118924188	664	15181											
MGP	4256	broad.mit.edu	37	chr12	15035143	15035143	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atccataaaccatggcgtagCgttcgcaaagtctgtagtca	12	10	9	10	3	2	0	1	0	1	0	4	0	3	0	2	1	2	4	2	1	5	4	rs375828646		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr12:15035143C>T	ENST00000539261.1	-	4	376	c.242G>A	c.(241-243)cGc>cAc	p.R81H	MGP_ENST00000228938.5_Missense_Mutation_p.R106H|C12orf60_ENST00000527783.1_Intron	NM_000900.3	NP_000891.2	P08493	MGP_HUMAN	matrix Gla protein	81	Gla. {ECO:0000255|PROSITE- ProRule:PRU00463}.				cartilage condensation (GO:0001502)|cell differentiation (GO:0030154)|ossification (GO:0001503)|regulation of bone mineralization (GO:0030500)	extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)|structural constituent of bone (GO:0008147)			large_intestine(1)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	7						CATGGCGTAGCGTTCGCAAAG	0.463																																						ENST00000539261.1																			0				large_intestine(1)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	7						c.(241-243)cGc>cAc		matrix Gla protein							156	148	151					12																	15035143		2203	4300	6503	SO:0001583	missense	4256				cartilage condensation|cell differentiation|ossification|regulation of bone mineralization	proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent|structural constituent of bone	g.chr12:15035143C>T	M58549	CCDS8669.1, CCDS53752.1	12p12.3	2006-12-15			ENSG00000111341	ENSG00000111341			7060	protein-coding gene	gene with protein product		154870				2394711	Standard	NM_000900		Approved		uc021qvr.1	P08493	OTTHUMG00000168740	ENST00000539261.1:c.242G>A	12.37:g.15035143C>T	ENSP00000445907:p.Arg81His					MGP_ENST00000228938.5_Missense_Mutation_p.R106H|C12orf60_ENST00000527783.1_Intron	p.R81H	NM_000900.3	NP_000891.2	P08493	MGP_HUMAN			4	376	-			81			Gla.		A0M8W5|B2R519|J3KMX7|Q2TU41|Q567P9|Q6ICN5	Missense_Mutation	SNP	ENST00000539261.1	37	c.242G>A	CCDS8669.1	.	.	.	.	.	.	.	.	.	.	C	18.61	3.662123	0.67700	.	.	ENSG00000111341	ENST00000539261;ENST00000228938	D;D	0.99220	-5.58;-5.58	5.13	4.24	0.50183	Gamma-carboxyglutamic acid-rich (GLA) domain (5);	0.299010	0.32218	N	0.006413	D	0.98538	0.9512	L	0.61036	1.89	0.34062	D	0.657446	D	0.64830	0.994	P	0.55667	0.781	D	0.99940	1.1398	10	0.15066	T	0.55	-1.3297	9.507	0.39053	0.0:0.9048:0.0:0.0952	.	81	P08493	MGP_HUMAN	H	81;106	ENSP00000445907:R81H;ENSP00000228938:R106H	ENSP00000228938:R106H	R	-	2	0	MGP	14926410	1.000000	0.71417	1.000000	0.80357	0.674000	0.39518	0.727000	0.25999	1.532000	0.49169	0.655000	0.94253	CGC		0.463	MGP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400864.1	NM_000900		13	208	0	0	0	1	0	13	208					T	15035143	C	T	15035143	3	4	305	1	0	0	0	0	1	0	0	0	9558	768	27	1	73	1	MGP	12	15035143	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	107436	15035143	118816752	665	15182											
AEBP2	121536	broad.mit.edu	37	chr12	19653128	19653128	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	catatagaaagtttagggaaGggacacagtgttgtttttca	13	13	11	4	0	1	1	1	0	0	1	1	3	1	3	0	2	0	3	0	2	5	7			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr12:19653128G>T	ENST00000398864.3	+	5	1298	c.1272G>T	c.(1270-1272)aaG>aaT	p.K424N	AEBP2_ENST00000360995.4_Missense_Mutation_p.K208N|AEBP2_ENST00000541908.1_Missense_Mutation_p.K195N|AEBP2_ENST00000266508.9_Missense_Mutation_p.K424N	NM_001114176.1	NP_001107648.1	Q6ZN18	AEBP2_HUMAN	AE binding protein 2	424	Interaction with SUZ12.				chromatin modification (GO:0016568)	ESC/E(Z) complex (GO:0035098)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|transcription corepressor activity (GO:0003714)			ovary(1)	1	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804)|Esophageal squamous(101;0.143)					GTTTAGGGAAGGGACACAGTG	0.328																																						ENST00000266508.9																			0				ovary(1)	1						c.(1270-1272)aaG>aaT		AE binding protein 2							84	77	79					12																	19653128		1848	4090	5938	SO:0001583	missense	121536				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex	DNA binding|zinc ion binding	g.chr12:19653128G>T		CCDS44841.1, CCDS44842.1, CCDS58215.1	12p12.3	2012-10-02			ENSG00000139154	ENSG00000139154			24051	protein-coding gene	gene with protein product						10329662	Standard	NM_153207		Approved	MGC17922	uc001ref.2	Q6ZN18	OTTHUMG00000168906	ENST00000398864.3:c.1272G>T	12.37:g.19653128G>T	ENSP00000381840:p.Lys424Asn					AEBP2_ENST00000541908.1_Missense_Mutation_p.K195N|AEBP2_ENST00000360995.4_Missense_Mutation_p.K208N|AEBP2_ENST00000398864.3_Missense_Mutation_p.K424N	p.K424N	NM_153207.4	NP_694939.2	Q6ZN18	AEBP2_HUMAN			5	1273	+	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804)|Esophageal squamous(101;0.143)		424			Interaction with SUZ12.		Q59FS5|Q6ZN62|Q96BG3	Missense_Mutation	SNP	ENST00000398864.3	37	c.1272G>T	CCDS44841.1	.	.	.	.	.	.	.	.	.	.	G	3.488	-0.104524	0.06967	.	.	ENSG00000139154	ENST00000541908;ENST00000398864;ENST00000435841;ENST00000266508;ENST00000360995;ENST00000512223;ENST00000398731	T;T;T;T	0.68479	-0.33;-0.14;-0.33;-0.22	4.94	4.04	0.47022	.	.	.	.	.	T	0.30696	0.0773	N	0.01267	-0.92	0.42735	D	0.99372	B	0.21520	0.057	B	0.14023	0.01	T	0.07443	-1.0772	9	0.17832	T	0.49	-9.8311	4.3489	0.11146	0.2357:0.185:0.5793:0.0	.	424	Q6ZN18	AEBP2_HUMAN	N	195;424;358;424;208;34;22	ENSP00000437983:K195N;ENSP00000381840:K424N;ENSP00000266508:K424N;ENSP00000354267:K208N	ENSP00000266508:K424N	K	+	3	2	AEBP2	19544395	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	0.761000	0.26489	1.075000	0.40932	0.561000	0.74099	AAG		0.328	AEBP2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000401575.1	NM_153207		3	5	1	0	0.004672	1	0.00472882	3	5					T	19653128	G	T	19653128	3	4	305	1	0	0	0	0	1	0	0	0	350	991	35	5	1290	5	AEBP2	12	19653128	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	4617985	19653128	114198767	666	15183											
C12orf77	196415	broad.mit.edu	37	chr12	25149160	25149160	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gatgtaagcgtataatttgtCagacgggcaatatggtctag	12	12	12	5	2	2	1	1	0	1	1	2	2	2	1	0	2	1	3	0	2	6	6			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr12:25149160C>T	ENST00000549828.1	-	2	321	c.117G>A	c.(115-117)ctG>ctA	p.L39L	C12orf77_ENST00000549262.1_5'UTR|C12orf77_ENST00000434912.3_5'UTR	NM_001101339.1	NP_001094809.1	C9JDV5	CL097_HUMAN	chromosome 12 open reading frame 77	39										endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)	7						TATAATTTGTCAGACGGGCAA	0.423																																						ENST00000549828.1																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)	7						c.(115-117)ctG>ctA		chromosome 12 open reading frame 77							138	134	136					12																	25149160		1940	4151	6091	SO:0001819	synonymous_variant	196415							g.chr12:25149160C>T	BC046192	CCDS44846.1	12p12.1	2009-09-30			ENSG00000226397	ENSG00000226397			27282	protein-coding gene	gene with protein product						12477932	Standard	NM_001101339		Approved		uc001rgf.3	C9JDV5	OTTHUMG00000170185	ENST00000549828.1:c.117G>A	12.37:g.25149160C>T						C12orf77_ENST00000434912.3_5'UTR|C12orf77_ENST00000549262.1_5'UTR	p.L39L	NM_001101339.1	NP_001094809.1	C9JDV5	CL097_HUMAN			2	321	-			39						Silent	SNP	ENST00000549828.1	37	c.117G>A	CCDS44846.1																																																																																				0.423	C12orf77-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407827.1	NM_001101339		4	106	0	0	0	1	0	4	106					T	25149160	C	T	25149160	2	4	305	1	0	0	0	0	0	0	0	1	1716	813	29	3		3	C12orf77	12	25149160	Silent	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	5496032	25149160	108702735	667	15184											
OVCH1	341350	broad.mit.edu	37	chr12	29630469	29630469	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaagtggtggaaacttacaCgtttgttttgttttccatcg	10	16	9	6	2	0	0	0	0	0	0	2	1	1	1	1	2	2	3	1	2	4	6			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr12:29630469C>T	ENST00000318184.5	-	10	1111	c.1112G>A	c.(1111-1113)cGt>cAt	p.R371H	OVCH1-AS1_ENST00000551108.1_Intron|OVCH1-AS1_ENST00000549411.1_Intron	NM_183378.2	NP_899234.2	Q7RTY7	OVCH1_HUMAN	ovochymase 1	371	CUB 1. {ECO:0000255|PROSITE- ProRule:PRU00059}.					extracellular region (GO:0005576)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(43)|ovary(5)|pancreas(3)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)	92	Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)					GAAACTTACACGTTTGTTTTG	0.368																																						ENST00000318184.5																			0				NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(43)|ovary(5)|pancreas(3)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)	92						c.e10+1		ovochymase 1							98	95	96					12																	29630469		1863	4098	5961	SO:0001630	splice_region_variant	341350				proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity	g.chr12:29630469C>T	BN000128		12p11.23	2012-11-08			ENSG00000187950	ENSG00000187950			23080	protein-coding gene	gene with protein product						12838346	Standard	NM_183378		Approved	OVCH	uc001rix.1	Q7RTY7	OTTHUMG00000167741	ENST00000318184.5:c.1113+1G>A	12.37:g.29630469C>T						OVCH1-AS1_ENST00000549411.1_Intron|OVCH1-AS1_ENST00000551108.1_Intron	p.R371_splice	NM_183378.2	NP_899234.2	Q7RTY7	OVCH1_HUMAN			10	1111	-	Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)		371			CUB 1.			Splice_Site	SNP	ENST00000318184.5	37	c.1113_splice		.	.	.	.	.	.	.	.	.	.	C	6.018	0.371637	0.11409	.	.	ENSG00000187950	ENST00000318184	T	0.23950	1.88	2.31	-3.79	0.04320	CUB (3);	.	.	.	.	T	0.10294	0.0252	N	0.08118	0	0.09310	N	1	B	0.14012	0.009	B	0.04013	0.001	T	0.22556	-1.0213	9	0.54805	T	0.06	.	3.7116	0.08421	0.1807:0.31:0.0:0.5093	.	371	Q7RTY7	OVCH1_HUMAN	H	371	ENSP00000326708:R371H	ENSP00000326708:R371H	R	-	2	0	OVCH1	29521736	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.150000	0.10189	-1.139000	0.02881	-0.793000	0.03317	CGT		0.368	OVCH1-001	KNOWN	non_canonical_TEC|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000395997.2	NM_183378	Missense_Mutation	15	42	0	0	0	1	0	15	42					T	29630469	C	T	29630469	5	4	305	1	0	0	0	0	0	0	1	0	11323	550	19	1	2368	1	OVCH1	12	29630469	Splice_Site	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	4481309	29630469	104221426	668	15185											
TSPAN11	441631	broad.mit.edu	37	chr12	31135554	31135554	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccgagggccgccaggtgcccGacagctgctgcaagacagtg	8	4	15	14	3	0	1	0	0	0	1	0	3	0	1	4	2	4	3	4	2	1	0			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr12:31135554G>A	ENST00000261177.9	+	6	603	c.544G>A	c.(544-546)Gac>Aac	p.D182N	TSPAN11_ENST00000535215.1_Missense_Mutation_p.D111N|TSPAN11_ENST00000546076.1_Missense_Mutation_p.D182N|TSPAN11_ENST00000544427.1_Missense_Mutation_p.D172N	NM_001080509.2	NP_001073978.1	A1L157	TSN11_HUMAN	tetraspanin 11	182						integral component of membrane (GO:0016021)				endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)	11	all_lung(12;3.11e-10)|Lung NSC(12;5.24e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233)					CCAGGTGCCCGACAGCTGCTG	0.637																																						ENST00000261177.9																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)	11						c.(544-546)Gac>Aac		tetraspanin 11							21	22	22					12																	31135554		2199	4299	6498	SO:0001583	missense	441631					integral to membrane		g.chr12:31135554G>A		CCDS31765.1	12p11.21	2013-02-14				ENSG00000110900		"Tetraspanins"	30795	protein-coding gene	gene with protein product							Standard	NM_001080509		Approved		uc001rjp.3	A1L157		ENST00000261177.9:c.544G>A	12.37:g.31135554G>A	ENSP00000261177:p.Asp182Asn					TSPAN11_ENST00000546076.1_Missense_Mutation_p.D182N|TSPAN11_ENST00000535215.1_Missense_Mutation_p.D111N|TSPAN11_ENST00000544427.1_Missense_Mutation_p.D172N	p.D182N	NM_001080509.2	NP_001073978.1	A1L157	TSN11_HUMAN			6	603	+	all_lung(12;3.11e-10)|Lung NSC(12;5.24e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233)		182					A1L158|B2RUX6	Missense_Mutation	SNP	ENST00000261177.9	37	c.544G>A	CCDS31765.1	.	.	.	.	.	.	.	.	.	.	G	18.08	3.543033	0.65198	.	.	ENSG00000110900	ENST00000546076;ENST00000535215;ENST00000544427;ENST00000261177	D;D;D;D	0.87334	-2.24;-2.24;-2.24;-2.24	4.01	4.01	0.46588	Tetraspanin, EC2 domain (1);	0.000000	0.85682	U	0.000000	D	0.91610	0.7349	M	0.77616	2.38	0.58432	D	0.999998	D;D	0.89917	1.0;0.999	D;D	0.70487	0.948;0.969	D	0.89657	0.3874	10	0.13853	T	0.58	.	13.6064	0.62050	0.0:0.0:1.0:0.0	.	172;182	F5H0F0;A1L157	.;TSN11_HUMAN	N	182;111;172;182	ENSP00000437403:D182N;ENSP00000445503:D111N;ENSP00000439895:D172N;ENSP00000261177:D182N	ENSP00000261177:D182N	D	+	1	0	TSPAN11	31026821	1.000000	0.71417	0.988000	0.46212	0.262000	0.26303	9.191000	0.94940	1.752000	0.51891	0.313000	0.20887	GAC		0.637	TSPAN11-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399888.1	XM_497334		7	23	0	0	0	1	0	7	23					A	31135554	G	A	31135554	3	1	305	1	0	0	0	0	1	0	0	0	16632	1058	37	2	562	2	TSPAN11	12	31135554	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	1505085	31135554	102716341	669	15186											
C12orf35	55196	broad.mit.edu	37	chr12	32135664	32135664	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgctttgctttcacaggcacGtaagactcagaagacagtat	12	10	9	10	2	2	3	2	0	0	3	2	3	2	3	0	1	1	5	0	1	3	4			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr12:32135664G>A	ENST00000312561.4	+	4	2189	c.1775G>A	c.(1774-1776)cGt>cAt	p.R592H	KIAA1551_ENST00000535596.1_Intron	NM_018169.3	NP_060639	Q9HCM1	K1551_HUMAN	KIAA1551	592																	TCACAGGCACGTAAGACTCAG	0.353																																						ENST00000312561.4																			0											c.(1774-1776)cGt>cAt		KIAA1551							36	37	37					12																	32135664		2203	4299	6502	SO:0001583	missense	55196							g.chr12:32135664G>A	AK001514	CCDS8725.2	12p11.21	2012-08-14	2012-08-14	2012-08-14	ENSG00000174718	ENSG00000174718			25559	protein-coding gene	gene with protein product			"chromosome 12 open reading frame 35"	C12orf35		10997877	Standard	NM_018169		Approved	FLJ20696, FLJ10652	uc001rks.3	Q9HCM1	OTTHUMG00000128501	ENST00000312561.4:c.1775G>A	12.37:g.32135664G>A	ENSP00000310338:p.Arg592His					KIAA1551_ENST00000535596.1_Intron	p.R592H	NM_018169.3	NP_060639.3					4	2189	+								B2RTU5|Q4KN17|Q9NVL6|Q9NWP9	Missense_Mutation	SNP	ENST00000312561.4	37	c.1775G>A	CCDS8725.2	.	.	.	.	.	.	.	.	.	.	G	9.079	0.998876	0.19121	.	.	ENSG00000174718	ENST00000312561;ENST00000381054	T;T	0.05925	4.01;3.37	4.46	-3.92	0.04155	.	2.166970	0.02353	N	0.076177	T	0.03220	0.0094	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.41106	-0.9527	9	.	.	.	.	5.8189	0.18516	0.4641:0.0:0.4044:0.1315	.	592	Q9HCM1	CL035_HUMAN	H	592	ENSP00000310338:R592H;ENSP00000370442:R592H	.	R	+	2	0	C12orf35	32026931	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.304000	0.19228	-0.518000	0.06452	-1.264000	0.01445	CGT		0.353	KIAA1551-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250307.2	NM_018169		11	34	0	0	0	1	0	11	34					A	32135664	G	A	32135664	3	1	305	1	0	0	0	0	1	0	0	0	1682	1145	40	1	1777	1	C12orf35	12	32135664	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	1000110	32135664	101716231	670	15187											
YARS2	51067	broad.mit.edu	37	chr12	32902905	32902905	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tggaatggcatttgctttgcGgcaagtatctaggacacttg	9	13	12	7	1	1	0	0	0	1	0	1	2	1	2	0	4	2	4	0	4	4	5			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr12:32902905G>A	ENST00000324868.8	-	4	1267	c.1240C>T	c.(1240-1242)Cgc>Tgc	p.R414C	YARS2_ENST00000551673.1_5'UTR	NM_001040436.2	NP_001035526.1	Q9Y2Z4	SYYM_HUMAN	tyrosyl-tRNA synthetase 2, mitochondrial	414					gene expression (GO:0010467)|mitochondrial tyrosyl-tRNA aminoacylation (GO:0070184)|translation (GO:0006412)|tRNA aminoacylation (GO:0043039)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|tRNA binding (GO:0000049)|tyrosine binding (GO:0072545)|tyrosine-tRNA ligase activity (GO:0004831)			endometrium(1)|large_intestine(4)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	16	Lung NSC(5;2.43e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)				L-Tyrosine(DB00135)	TTTGCTTTGCGGCAAGTATCT	0.388																																						ENST00000324868.8																			0				endometrium(1)|large_intestine(4)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	16						c.(1240-1242)Cgc>Tgc		tyrosyl-tRNA synthetase 2, mitochondrial	L-Tyrosine(DB00135)						94	98	97					12																	32902905		2203	4300	6503	SO:0001583	missense	51067				tyrosyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|protein binding|RNA binding|tyrosine-tRNA ligase activity	g.chr12:32902905G>A	AF132939	CCDS31770.1	12p11.21	2014-03-19	2007-02-23		ENSG00000139131	ENSG00000139131	6.1.1.1	"Aminoacyl tRNA synthetases / Class I"	24249	protein-coding gene	gene with protein product	"tyrosine tRNA ligase 2, mitochondrial"	610957				15779907, 15840810	Standard	NM_001040436		Approved	FLJ13995, CGI-04, mt-TyrRS	uc001rli.3	Q9Y2Z4	OTTHUMG00000169454	ENST00000324868.8:c.1240C>T	12.37:g.32902905G>A	ENSP00000320658:p.Arg414Cys					YARS2_ENST00000551673.1_5'UTR	p.R414C	NM_001040436.2	NP_001035526.1	Q9Y2Z4	SYYM_HUMAN			4	1267	-	Lung NSC(5;2.43e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)		414					D3DUW8|Q9H817	Missense_Mutation	SNP	ENST00000324868.8	37	c.1240C>T	CCDS31770.1	.	.	.	.	.	.	.	.	.	.	G	15.00	2.703863	0.48412	.	.	ENSG00000139131	ENST00000324868	T	0.72835	-0.69	5.47	5.47	0.80525	RNA-binding S4 (1);	0.124573	0.52532	D	0.000067	T	0.70254	0.3203	M	0.64997	1.995	0.80722	D	1	B	0.26081	0.141	B	0.15052	0.012	T	0.69179	-0.5213	10	0.72032	D	0.01	-8.233	19.6946	0.96021	0.0:0.0:1.0:0.0	.	414	Q9Y2Z4	SYYM_HUMAN	C	414	ENSP00000320658:R414C	ENSP00000320658:R414C	R	-	1	0	YARS2	32794172	1.000000	0.71417	1.000000	0.80357	0.860000	0.49131	4.185000	0.58330	2.734000	0.93682	0.585000	0.79938	CGC		0.388	YARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404153.1	NM_015936		32	85	0	0	0	1	0	32	85					A	32902905	G	A	32902905	3	1	305	1	0	0	0	0	1	0	0	0	17465	1116	39	2	201	2	YARS2	12	32902905	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	767241	32902905	100948990	671	15188											
ADCY6	112	broad.mit.edu	37	chr12	49170939	49170939	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cacacagcagtgggcatggtCggcccgggcctccggcagcc	6	4	15	16	3	0	0	0	0	0	0	2	0	1	0	4	5	2	3	4	5	0	0			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr12:49170939C>T	ENST00000307885.4	-	5	2018	c.1324G>A	c.(1324-1326)Gac>Aac	p.D442N	ADCY6_ENST00000357869.3_Missense_Mutation_p.D442N|ADCY6_ENST00000550422.1_Missense_Mutation_p.D442N|ADCY6_ENST00000552090.1_5'Flank	NM_015270.3	NP_056085.1	O43306	ADCY6_HUMAN	adenylate cyclase 6	442					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cAMP biosynthetic process (GO:0006171)|cellular response to catecholamine stimulus (GO:0071870)|cellular response to glucagon stimulus (GO:0071377)|cellular response to prostaglandin E stimulus (GO:0071380)|dopamine receptor signaling pathway (GO:0007212)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|negative regulation of neuron projection development (GO:0010977)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cilium (GO:0005929)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)			breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(16)|prostate(1)|skin(1)|urinary_tract(1)	29						TGGGCATGGTCGGCCCGGGCC	0.577																																						ENST00000307885.4																			0				breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(16)|prostate(1)|skin(1)|urinary_tract(1)	29						c.(1324-1326)Gac>Aac		adenylate cyclase 6							133	125	128					12																	49170939		2203	4300	6503	SO:0001583	missense	112				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane	ATP binding|metal ion binding	g.chr12:49170939C>T		CCDS8767.1, CCDS8768.1	12q12-q13	2013-02-04				ENSG00000174233	4.6.1.1	"Adenylate cyclases"	237	protein-coding gene	gene with protein product		600294					Standard	NM_015270		Approved	AC6	uc001rsh.4	O43306		ENST00000307885.4:c.1324G>A	12.37:g.49170939C>T	ENSP00000311405:p.Asp442Asn					ADCY6_ENST00000357869.3_Missense_Mutation_p.D442N|ADCY6_ENST00000550422.1_Missense_Mutation_p.D442N	p.D442N	NM_015270.3	NP_056085.1	O43306	ADCY6_HUMAN			5	2018	-			442					Q9NR75|Q9UDB0	Missense_Mutation	SNP	ENST00000307885.4	37	c.1324G>A	CCDS8767.1	.	.	.	.	.	.	.	.	.	.	C	29.6	5.024176	0.93462	.	.	ENSG00000174233	ENST00000357869;ENST00000550422;ENST00000307885	D;D;D	0.85861	-2.04;-2.04;-2.04	4.43	4.43	0.53597	Adenylyl cyclase class-3/4/guanylyl cyclase (5);	0.000000	0.85682	D	0.000000	D	0.86760	0.6010	L	0.37897	1.145	0.80722	D	1	D;D	0.71674	0.98;0.998	P;P	0.58620	0.642;0.842	D	0.87908	0.2695	10	0.56958	D	0.05	.	16.3463	0.83134	0.0:1.0:0.0:0.0	.	442;442	O43306-2;O43306	.;ADCY6_HUMAN	N	442	ENSP00000350536:D442N;ENSP00000446730:D442N;ENSP00000311405:D442N	ENSP00000311405:D442N	D	-	1	0	ADCY6	47457206	1.000000	0.71417	0.999000	0.59377	0.868000	0.49771	7.651000	0.83577	2.451000	0.82905	0.561000	0.74099	GAC		0.577	ADCY6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408863.1	NM_020983		60	153	0	0	0	1	0	60	153					T	49170939	C	T	49170939	3	4	305	1	0	0	0	0	1	0	0	0	298	884	31	2	2250	2	ADCY6	12	49170939	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	16268034	49170939	84680956	672	15189											
MLL2	8085	broad.mit.edu	37	chr12	49432374	49432374	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gacctgataccgccaggcccCgaagcccttcaggagccagt	9	5	11	16	2	1	1	1	1	0	0	1	4	1	2	7	2	3	0	7	2	2	2			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr12:49432374C>T	ENST00000301067.7	-	34	8764	c.8765G>A	c.(8764-8766)cGg>cAg	p.R2922Q	KMT2D_ENST00000549743.1_5'Flank	NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	2922	Pro-rich.				chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.R2922Q(1)|p.R2652Q(1)									CGCCAGGCCCCGAAGCCCTTC	0.617																																						ENST00000301067.7																			2	Substitution - Missense(2)	p.R2922Q(1)|p.R2652Q(1)	large_intestine(2)								c.(8764-8766)cGg>cAg		lysine (K)-specific methyltransferase 2D							31	36	35					12																	49432374		1858	4084	5942	SO:0001583	missense	8085							g.chr12:49432374C>T	AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	7133	protein-coding gene	gene with protein product		602113	"trinucleotide repeat containing 21", "myeloid/lymphoid or mixed-lineage leukemia 2"	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.8765G>A	12.37:g.49432374C>T	ENSP00000301067:p.Arg2922Gln						p.R2922Q	NM_003482.3	NP_003473.3					34	8764	-								O14687	Missense_Mutation	SNP	ENST00000301067.7	37	c.8765G>A	CCDS44873.1	.	.	.	.	.	.	.	.	.	.	C	10.03	1.239869	0.22711	.	.	ENSG00000167548	ENST00000301067	T	0.78707	-1.2	5.32	5.32	0.75619	.	0.000000	0.35436	N	0.003206	T	0.63224	0.2493	N	0.22421	0.69	0.22457	N	0.999089	P	0.35628	0.513	B	0.23716	0.048	T	0.64715	-0.6342	10	0.87932	D	0	.	14.899	0.70664	0.0:0.8554:0.1446:0.0	.	2922	O14686	MLL2_HUMAN	Q	2922	ENSP00000301067:R2922Q	ENSP00000301067:R2922Q	R	-	2	0	MLL2	47718641	0.935000	0.31712	0.990000	0.47175	0.806000	0.45545	1.733000	0.38156	2.878000	0.98634	0.650000	0.86243	CGG		0.617	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2			5	97	0	0	0	1	0	5	97					T	49432374	C	T	49432374	3	4	305	1	0	0	0	0	1	0	0	0	9621	652	23	2	7932	2	MLL2	12	49432374	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	261435	49432374	84419521	673	15190											
MLL2	8085	broad.mit.edu	37	chr12	49444729	49444729	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tggggacaacggcagctcctCgggcagaggggacagaggtg	9	4	19	9	2	0	2	0	0	0	2	2	4	1	4	1	7	2	3	1	7	1	0	rs199724002		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr12:49444729C>T	ENST00000301067.7	-	10	2736	c.2737G>A	c.(2737-2739)Gag>Aag	p.E913K		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	913	Pro-rich.			Missing (in Ref. 1; AAC51734). {ECO:0000305}.	chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)										GGCAGCTCCTCGGGCAGAGGG	0.597																																						ENST00000301067.7																			0											c.(2737-2739)Gag>Aag		lysine (K)-specific methyltransferase 2D							59	66	64					12																	49444729		2030	4170	6200	SO:0001583	missense	8085							g.chr12:49444729C>T	AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	7133	protein-coding gene	gene with protein product		602113	"trinucleotide repeat containing 21", "myeloid/lymphoid or mixed-lineage leukemia 2"	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.2737G>A	12.37:g.49444729C>T	ENSP00000301067:p.Glu913Lys						p.E913K	NM_003482.3	NP_003473.3					10	2736	-								O14687	Missense_Mutation	SNP	ENST00000301067.7	37	c.2737G>A	CCDS44873.1	.	.	.	.	.	.	.	.	.	.	C	9.013	0.983046	0.18889	.	.	ENSG00000167548	ENST00000301067	T	0.80738	-1.41	3.68	1.81	0.25067	.	.	.	.	.	T	0.59542	0.2201	N	0.08118	0	0.19300	N	0.999976	B	0.20261	0.043	B	0.12837	0.008	T	0.52366	-0.8585	9	0.87932	D	0	.	3.9574	0.09396	0.0:0.58:0.2001:0.2199	.	913	O14686	MLL2_HUMAN	K	913	ENSP00000301067:E913K	ENSP00000301067:E913K	E	-	1	0	MLL2	47730996	0.000000	0.05858	0.966000	0.40874	0.975000	0.68041	0.360000	0.20250	0.522000	0.28464	0.563000	0.77884	GAG		0.597	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2			4	129	0	0	0	1	0	4	129					T	49444729	C	T	49444729	3	4	305	1	0	0	0	0	1	0	0	0	9621	893	31	2	14056	2	MLL2	12	49444729	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	12355	49444729	84407166	674	15191											
FAM186B	84070	broad.mit.edu	37	chr12	49998227	49998227	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gatctctctgctgagatttgGcattttcttttaaatcatat	9	19	6	7	0	4	1	1	1	3	1	5	3	4	1	0	1	1	2	0	1	3	6			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr12:49998227G>A	ENST00000257894.2	-	2	352	c.191C>T	c.(190-192)gCc>gTc	p.A64V	FAM186B_ENST00000551047.1_Missense_Mutation_p.A64V|FAM186B_ENST00000544141.1_5'UTR|PRPF40B_ENST00000508736.1_3'UTR	NM_032130.2	NP_115506.1	Q8IYM0	F186B_HUMAN	family with sequence similarity 186, member B	64						protein complex (GO:0043234)				breast(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						CTGAGATTTGGCATTTTCTTT	0.403																																						ENST00000257894.2																			0				breast(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(190-192)gCc>gTc		family with sequence similarity 186, member B							115	111	112					12																	49998227		2203	4300	6503	SO:0001583	missense	84070					protein complex		g.chr12:49998227G>A	AL136748	CCDS8788.1	12q13.12	2008-09-17	2008-09-17	2008-09-17	ENSG00000135436	ENSG00000135436			25296	protein-coding gene	gene with protein product			"chromosome 12 open reading frame 25"	C12orf25		11230166	Standard	NM_032130		Approved	DKFZP434J0113	uc001ruo.3	Q8IYM0	OTTHUMG00000167427	ENST00000257894.2:c.191C>T	12.37:g.49998227G>A	ENSP00000257894:p.Ala64Val					FAM186B_ENST00000544141.1_5'UTR|FAM186B_ENST00000551047.1_Missense_Mutation_p.A64V|PRPF40B_ENST00000508736.1_3'UTR	p.A64V	NM_032130.2	NP_115506.1	Q8IYM0	F186B_HUMAN			2	352	-			64					B4DZ15|Q8TCP7|Q9H0L3	Missense_Mutation	SNP	ENST00000257894.2	37	c.191C>T	CCDS8788.1	.	.	.	.	.	.	.	.	.	.	G	5.195	0.221508	0.09863	.	.	ENSG00000135436	ENST00000551047;ENST00000257894	T;T	0.45668	0.89;2.9	5.47	2.17	0.27698	.	0.371804	0.19685	N	0.108417	T	0.24851	0.0603	L	0.31294	0.92	0.09310	N	0.999994	B	0.17852	0.024	B	0.16722	0.016	T	0.11542	-1.0583	9	.	.	.	-1.5128	4.4097	0.11427	0.1845:0.0:0.6044:0.211	.	64	Q8IYM0	F186B_HUMAN	V	64	ENSP00000448656:A64V;ENSP00000257894:A64V	.	A	-	2	0	FAM186B	48284494	0.001000	0.12720	0.086000	0.20670	0.371000	0.29859	0.216000	0.17585	0.783000	0.33636	0.563000	0.77884	GCC		0.403	FAM186B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394583.2	NM_032130		8	71	0	0	0	1	0	8	71					A	49998227	G	A	49998227	3	1	305	1	0	0	0	0	1	0	0	0	5512	1203	42	3	2514	3	FAM186B	12	49998227	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	553498	49998227	83853668	675	15192											
FAM186B	84070	broad.mit.edu	37	chr12	49999241	49999241	+	Frame_Shift_Del	DEL	G	G	-																															atgtgggagtcaccaactgtGgggggtcatccttctccatt																								rs377032725		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr12:49999241delG	ENST00000257894.2	-	1	181	c.20delC	c.(19-21)ccafs	p.P7fs	FAM186B_ENST00000551047.1_Frame_Shift_Del_p.P7fs|FAM186B_ENST00000544141.1_5'UTR	NM_032130.2	NP_115506.1	Q8IYM0	F186B_HUMAN	family with sequence similarity 186, member B	7						protein complex (GO:0043234)				breast(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						CACCAACTGTGGGGGGTCATC	0.522																																						ENST00000257894.2																			0				breast(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(19-21)cafs		family with sequence similarity 186, member B							97	81	87					12																	49999241		2203	4300	6503	SO:0001589	frameshift_variant	84070					protein complex		g.chr12:49999241delG	AL136748	CCDS8788.1	12q13.12	2008-09-17	2008-09-17	2008-09-17	ENSG00000135436	ENSG00000135436			25296	protein-coding gene	gene with protein product			"chromosome 12 open reading frame 25"	C12orf25		11230166	Standard	NM_032130		Approved	DKFZP434J0113	uc001ruo.3	Q8IYM0	OTTHUMG00000167427	ENST00000257894.2:c.20delC	12.37:g.49999241delG	ENSP00000257894:p.Pro7fs					FAM186B_ENST00000551047.1_Frame_Shift_Del_p.P7fs|FAM186B_ENST00000544141.1_5'UTR	p.P7fs	NM_032130.2	NP_115506.1	Q8IYM0	F186B_HUMAN			1	181	-			7					B4DZ15|Q8TCP7|Q9H0L3	Frame_Shift_Del	DEL	ENST00000257894.2	37	c.20delC	CCDS8788.1																																																																																				0.522	FAM186B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394583.2	NM_032130		8	28						8	28	---	---	---	---	-	49999241	G	-	49999241	7	5	305	1	0	1	0	1	0	0	0	0	5512	1348	47	0	2689	0	FAM186B	12	49999241	Frame_Shift_Del	DEL	G	TCGA-KK-A59V-01A-11D-A29Q-08	1014	49999241	83852654	676	15193											
ACCN2	41	broad.mit.edu	37	chr12	50472316	50472316	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccgcatcgactgtgagacgcGctacctggtggagaactgca	9	7	13	12	4	0	2	0	1	0	2	1	5	0	2	2	2	3	3	2	2	2	1			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr12:50472316G>A	ENST00000447966.2	+	6	1179	c.950G>A	c.(949-951)cGc>cAc	p.R317H	ASIC1_ENST00000552438.1_Missense_Mutation_p.R351H|ASIC1_ENST00000228468.4_Missense_Mutation_p.R317H	NM_001095.3	NP_001086.2	P78348	ASIC1_HUMAN	acid-sensing (proton-gated) ion channel 1	317					associative learning (GO:0008306)|calcium ion transmembrane transport (GO:0070588)|cellular response to pH (GO:0071467)|ion transmembrane transport (GO:0034220)|memory (GO:0007613)|negative regulation of neurotransmitter secretion (GO:0046929)|protein homotrimerization (GO:0070207)|regulation of membrane potential (GO:0042391)|response to acidic pH (GO:0010447)|response to pH (GO:0009268)|sensory perception of sour taste (GO:0050915)|signal transduction (GO:0007165)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|synapse (GO:0045202)	acid-sensing ion channel activity (GO:0044736)|ion gated channel activity (GO:0022839)|ligand-gated sodium channel activity (GO:0015280)									Amiloride(DB00594)|Diclofenac(DB00586)	TGTGAGACGCGCTACCTGGTG	0.612																																						ENST00000228468.4																			0											c.(949-951)cGc>cAc		acid-sensing (proton-gated) ion channel 1	Amiloride(DB00594)						155	154	154					12																	50472316		2203	4300	6503	SO:0001583	missense	41				calcium ion transport|response to pH|signal transduction	integral to plasma membrane	ligand-gated sodium channel activity|protein binding	g.chr12:50472316G>A	U78181	CCDS8796.1, CCDS44876.1, CCDS58228.1	12q12	2012-02-23	2012-02-22	2012-02-22		ENSG00000110881		"Ion channels / Acid-sensing (proton-gated) ion channels"	100	protein-coding gene	gene with protein product		602866	"amiloride-sensitive cation channel 2, neuronal"	ACCN2		9037075	Standard	NM_001095		Approved	BNaC2, hBNaC2	uc001rvv.4	P78348	OTTHUMG00000169812	ENST00000447966.2:c.950G>A	12.37:g.50472316G>A	ENSP00000400228:p.Arg317His					ASIC1_ENST00000447966.2_Missense_Mutation_p.R317H|ASIC1_ENST00000552438.1_Missense_Mutation_p.R351H	p.R317H	NM_020039.3	NP_064423.2	P78348	ACCN2_HUMAN			6	1335	+			317					A3KN86|E5KBL7|P78349|Q96CV2	Missense_Mutation	SNP	ENST00000447966.2	37	c.950G>A	CCDS44876.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	33|33	5.265994|5.265994	0.95399|0.95399	.|.	.|.	ENSG00000110881|ENSG00000110881	ENST00000453327|ENST00000228468;ENST00000447966;ENST00000552438	.|T;T;T	.|0.66638	.|-0.22;-0.22;-0.22	4.35|4.35	4.35|4.35	0.52113|0.52113	.|Na+ channel, amiloride-sensitive, conserved site (1);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.84170|0.84170	0.5413|0.5413	M|M	0.91406|0.91406	3.205|3.205	0.80722|0.80722	D|D	1|1	.|D;P	.|0.57899	.|0.981;0.932	.|P;P	.|0.62491	.|0.903;0.795	D|D	0.88600|0.88600	0.3149|0.3149	5|10	.|0.87932	.|D	.|0	-28.2925|-28.2925	17.4533|17.4533	0.87599|0.87599	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|317;317	.|P78348;P78348-1	.|ACCN2_HUMAN;.	T|H	185|317;317;351	.|ENSP00000228468:R317H;ENSP00000400228:R317H;ENSP00000450247:R351H	.|ENSP00000228468:R317H	A|R	+|+	1|2	0|0	ACCN2|ACCN2	48758583|48758583	1.000000|1.000000	0.71417|0.71417	0.993000|0.993000	0.49108|0.49108	0.977000|0.977000	0.68977|0.68977	6.547000|6.547000	0.73892|0.73892	2.414000|2.414000	0.81942|0.81942	0.462000|0.462000	0.41574|0.41574	GCT|CGC		0.612	ASIC1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406004.2	NM_020039		37	150	0	0	0	1	0	37	150					A	50472316	G	A	50472316	3	1	305	1	0	0	0	0	1	0	0	0	129	1087	38	1	968	1	ACCN2	12	50472316	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	473075	50472316	83379579	677	15194											
SCN8A	6334	broad.mit.edu	37	chr12	52184185	52184185	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cttcttccctcctttacttcGgaggtcaggacatcttcatg	6	15	7	13	1	4	0	2	0	2	0	7	2	6	2	2	3	1	0	2	3	1	6			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr12:52184185G>A	ENST00000354534.6	+	25	4601	c.4423G>A	c.(4423-4425)Gga>Aga	p.G1475R	SCN8A_ENST00000545061.1_Missense_Mutation_p.G1434R	NM_001177984.2|NM_014191.3	NP_001171455.1|NP_055006.1	Q9UQD0	SCN8A_HUMAN	sodium channel, voltage gated, type VIII, alpha subunit	1475					adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|membrane depolarization during action potential (GO:0086010)|muscle organ development (GO:0007517)|myelination (GO:0042552)|nervous system development (GO:0007399)|neuromuscular process (GO:0050905)|neuronal action potential (GO:0019228)|peripheral nervous system development (GO:0007422)|response to toxic substance (GO:0009636)|sensory perception of sound (GO:0007605)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon initial segment (GO:0043194)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)|Z disc (GO:0030018)	ATP binding (GO:0005524)|voltage-gated sodium channel activity (GO:0005248)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55				BRCA - Breast invasive adenocarcinoma(357;0.181)	Valproic Acid(DB00313)	CCTTTACTTCGGAGGTCAGGA	0.463																																						ENST00000354534.5																			0				breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55						c.(4423-4425)Gga>Aga		sodium channel, voltage gated, type VIII, alpha subunit	Lamotrigine(DB00555)						48	49	48					12																	52184185		2020	4206	6226	SO:0001583	missense	6334				axon guidance|myelination|peripheral nervous system development	cytoplasmic membrane-bounded vesicle|node of Ranvier	ATP binding|voltage-gated sodium channel activity	g.chr12:52184185G>A	AB027567	CCDS44891.1, CCDS53794.1	12q13.1	2012-02-26	2007-01-23			ENSG00000196876		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10596	protein-coding gene	gene with protein product		600702	"sodium channel, voltage gated, type VIII, alpha polypeptide"	MED		7670495, 9828131, 16382098	Standard	NM_014191		Approved	Nav1.6, NaCh6, PN4, CerIII	uc001ryw.4	Q9UQD0		ENST00000354534.6:c.4423G>A	12.37:g.52184185G>A	ENSP00000346534:p.Gly1475Arg					SCN8A_ENST00000545061.1_Missense_Mutation_p.G1434R	p.G1475R	NM_001177984.2|NM_014191.3	NP_001171455.1|NP_055006.1	Q9UQD0	SCN8A_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.181)	25	4601	+			1475					B9VWG8|O95788|Q9NYX2|Q9UPB2	Missense_Mutation	SNP	ENST00000354534.6	37	c.4423G>A	CCDS44891.1	.	.	.	.	.	.	.	.	.	.	G	18.91	3.724295	0.68959	.	.	ENSG00000196876	ENST00000354534;ENST00000545061;ENST00000355133	D;D;D	0.96396	-4.0;-3.92;-3.74	4.68	4.68	0.58851	.	0.147720	0.44902	U	0.000409	D	0.95884	0.8660	M	0.82193	2.58	0.80722	D	1	P	0.41214	0.742	B	0.36504	0.226	D	0.96696	0.9514	10	0.59425	D	0.04	.	18.1713	0.89746	0.0:0.0:1.0:0.0	.	1475	Q9UQD0	SCN8A_HUMAN	R	1475;1434;1434	ENSP00000346534:G1475R;ENSP00000440360:G1434R;ENSP00000347255:G1434R	ENSP00000346534:G1475R	G	+	1	0	SCN8A	50470452	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	9.657000	0.98554	2.591000	0.87537	0.650000	0.86243	GGA		0.463	SCN8A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404372.3	NM_014191		5	14	0	0	0	1	0	5	14					A	52184185	G	A	52184185	3	1	305	1	0	0	0	0	1	0	0	0	13924	1117	39	2	4517	2	SCN8A	12	52184185	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	1711869	52184185	81667710	678	15195											
KRT81	3887	broad.mit.edu	37	chr12	52681014	52681014	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcttggccttctgcagggcGccctccagctcggccagctt	3	10	12	16	2	1	0	0	0	1	0	3	0	2	0	4	3	4	4	4	3	0	3	rs572546241		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr12:52681014G>A	ENST00000327741.5	-	7	1187	c.1119C>T	c.(1117-1119)ggC>ggT	p.G373G	KRT86_ENST00000423955.2_Intron|KRT86_ENST00000544024.1_Intron	NM_002281.3	NP_002272.2	Q14533	KRT81_HUMAN	keratin 81	373	Coil 2.|Rod.					extracellular space (GO:0005615)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			breast(2)|endometrium(3)|large_intestine(3)|lung(6)|prostate(1)|stomach(1)	16				BRCA - Breast invasive adenocarcinoma(357;0.189)		TCTGCAGGGCGCCCTCCAGCT	0.642													.|||	1	0.000199681	8e-04	0	5008	,	,		17911	0		0	False		,,,				2504	0					ENST00000327741.5																			0				breast(2)|endometrium(3)|large_intestine(3)|lung(6)|prostate(1)|stomach(1)	16						c.(1117-1119)ggC>ggT		keratin 81							54	50	51					12																	52681014		2203	4297	6500	SO:0001819	synonymous_variant	3887					keratin filament	protein binding|structural molecule activity	g.chr12:52681014G>A	X81420	CCDS31805.1	12q13	2013-01-16	2006-07-17	2006-07-17	ENSG00000205426	ENSG00000205426		"-", "Intermediate filaments type II, keratins (basic)"	6458	protein-coding gene	gene with protein product	"hard keratin type II 1"	602153	"keratin, hair, basic, 1"	KRTHB1		7556444, 16831889	Standard	NM_002281		Approved	Hb-1	uc001sab.3	Q14533	OTTHUMG00000167574	ENST00000327741.5:c.1119C>T	12.37:g.52681014G>A						KRT86_ENST00000423955.2_Intron|KRT86_ENST00000544024.1_Intron	p.G373G	NM_002281.3	NP_002272.2	Q14533	KRT81_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.189)	7	1187	-			373			Coil 2.|Rod.		Q14846|Q16274|Q17R48|Q8WU52|Q9BR74	Silent	SNP	ENST00000327741.5	37	c.1119C>T	CCDS31805.1																																																																																				0.642	KRT81-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395128.2	NM_002281		21	87	0	0	0	1	0	21	87					A	52681014	G	A	52681014	2	1	305	1	0	0	0	0	0	0	0	1	8495	1074	38	1		1	KRT81	12	52681014	Silent	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	496829	52681014	81170881	679	15196											
KRT6A	3853	broad.mit.edu	37	chr12	52882150	52882150	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agcagcttgcggtaggtggcGatctccacgtccagggccag	7	7	15	12	3	1	0	0	0	1	0	3	1	2	0	3	4	3	3	3	4	1	2	rs370853930		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr12:52882150G>A	ENST00000330722.6	-	7	1454	c.1386C>T	c.(1384-1386)atC>atT	p.I462I		NM_005554.3	NP_005545.1	P02538	K2C6A_HUMAN	keratin 6A	462	Coil 2.|Rod.				cell differentiation (GO:0030154)|positive regulation of cell proliferation (GO:0008284)	extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)|membrane (GO:0016020)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|liver(1)|lung(14)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	39				BRCA - Breast invasive adenocarcinoma(357;0.189)		GGTAGGTGGCGATCTCCACGT	0.597													g|||	1	0.000199681	0	0	5008	,	,		19158	0.001		0	False		,,,				2504	0					ENST00000330722.6																			0				breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|liver(1)|lung(14)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	39						c.(1384-1386)atC>atT		keratin 6A		G		0,4406		0,0,2203	119	107	111		1386	-4.6	0.9	12		111	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	KRT6A	NM_005554.3		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		462/565	52882150	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	3853				cell differentiation|ectoderm development|positive regulation of cell proliferation	keratin filament	protein binding|structural constituent of cytoskeleton	g.chr12:52882150G>A	BC014152, L42593, L42610	CCDS41786.1	12q13.13	2013-01-16			ENSG00000205420	ENSG00000205420		"-", "Intermediate filaments type II, keratins (basic)"	6443	protein-coding gene	gene with protein product		148041	"keratin 6C", "keratin 6D"	KRT6C, KRT6D		1713141, 16831889	Standard	NM_005554		Approved	CK6C, K6C, CK6D, K6D	uc001sam.3	P02538	OTTHUMG00000169597	ENST00000330722.6:c.1386C>T	12.37:g.52882150G>A							p.I462I	NM_005554.3	NP_005545.1	P02538	K2C6A_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.189)	7	1454	-			462			Coil 2.|Rod.		A4QPC1|P48667|Q08AR4|Q6NT67|Q96CL4	Silent	SNP	ENST00000330722.6	37	c.1386C>T	CCDS41786.1																																																																																				0.597	KRT6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404978.2	NM_005554		35	128	0	0	0	1	0	35	128					A	52882150	G	A	52882150	2	1	305	1	0	0	0	0	0	0	0	1	8480	1048	37	2		2	KRT6A	12	52882150	Silent	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	201136	52882150	80969745	680	15197											
KRT78	196374	broad.mit.edu	37	chr12	53242577	53242577	+	Frame_Shift_Del	DEL	C	C	-																															ccacgagagccttccaggcaCcccccaaaggaattaaggct																										TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr12:53242577delC	ENST00000304620.4	-	1	201	c.138delG	c.(136-138)gggfs	p.G46fs	KRT78_ENST00000359499.4_5'Flank	NM_173352.2	NP_775487.2	Q8N1N4	K2C78_HUMAN	keratin 78	46	Gly-rich.|Head.					extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	18						CTTCCAGGCACCCCCCAAAGG	0.677																																						ENST00000304620.4																			0				endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	18						c.(136-138)ggfs		keratin 78							19	22	21					12																	53242577		2202	4300	6502	SO:0001589	frameshift_variant	196374					keratin filament	protein binding|structural molecule activity	g.chr12:53242577delC	AK096419	CCDS8840.1, CCDS73473.1	12q13.13	2013-06-25			ENSG00000170423	ENSG00000170423		"-", "Intermediate filaments type II, keratins (basic)"	28926	protein-coding gene	gene with protein product		611159				16831889	Standard	XM_005268695		Approved	K5B	uc001sbc.1	Q8N1N4	OTTHUMG00000169880	ENST00000304620.4:c.138delG	12.37:g.53242577delC	ENSP00000306261:p.Gly46fs						p.G46fs	NM_173352.2	NP_775487.2	Q8N1N4	K2C78_HUMAN			1	201	-			46			Gly-rich.|Head.		A8K4D6|Q5HYM7|Q7RTT2	Frame_Shift_Del	DEL	ENST00000304620.4	37	c.138delG	CCDS8840.1																																																																																				0.677	KRT78-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406380.1	NM_173352		10	33						10	33	---	---	---	---	-	53242577	C	-	53242577	7	5	305	1	0	1	0	1	0	0	0	0	8491	494	18	0	1460	0	KRT78	12	53242577	Frame_Shift_Del	DEL	C	TCGA-KK-A59V-01A-11D-A29Q-08	360427	53242577	80609318	681	15198											
HOXC10	3226	broad.mit.edu	37	chr12	54379096	54379096	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtacgcggagcccttggctgCgcccggcggaggagagcgct	5	5	18	13	6	0	1	0	0	0	1	0	4	0	3	2	5	4	3	2	5	1	2			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr12:54379096C>T	ENST00000303460.4	+	1	127	c.53C>T	c.(52-54)gCg>gTg	p.A18V	HOXC-AS3_ENST00000514702.1_RNA|HOXC-AS3_ENST00000513165.1_RNA|HOXC-AS3_ENST00000567780.1_RNA|HOXC-AS3_ENST00000509870.1_RNA|RP11-834C11.12_ENST00000513209.1_5'Flank	NM_017409.3	NP_059105.2	Q9NYD6	HXC10_HUMAN	homeobox C10	18					anterior/posterior pattern specification (GO:0009952)|embryonic limb morphogenesis (GO:0030326)|neuromuscular process (GO:0050905)|positive regulation of cell proliferation (GO:0008284)|proximal/distal pattern formation (GO:0009954)|regulation of transcription, DNA-templated (GO:0006355)|skeletal system development (GO:0001501)|spinal cord motor neuron cell fate specification (GO:0021520)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			endometrium(2)|large_intestine(3)|lung(14)|pancreas(1)	20						CCCTTGGCTGCGCCCGGCGGA	0.597																																						ENST00000303460.4																			0				endometrium(2)|large_intestine(3)|lung(14)|pancreas(1)	20						c.(52-54)gCg>gTg		homeobox C10							68	81	76					12																	54379096		2203	4300	6503	SO:0001583	missense	3226				positive regulation of cell proliferation	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr12:54379096C>T		CCDS8868.1	12q13.13	2011-06-20	2005-12-22		ENSG00000180818	ENSG00000180818		"Homeoboxes / ANTP class : HOXL subclass"	5122	protein-coding gene	gene with protein product		605560	"homeo box C10"	HOX3I		1358459	Standard	NM_017409		Approved		uc001sen.3	Q9NYD6	OTTHUMG00000160031	ENST00000303460.4:c.53C>T	12.37:g.54379096C>T	ENSP00000307321:p.Ala18Val					HOXC-AS3_ENST00000514702.1_RNA	p.A18V	NM_017409.3	NP_059105.2	Q9NYD6	HXC10_HUMAN			1	127	+			18					O15219|O15220|Q9BVD5	Missense_Mutation	SNP	ENST00000303460.4	37	c.53C>T	CCDS8868.1	.	.	.	.	.	.	.	.	.	.	C	11.99	1.803926	0.31869	.	.	ENSG00000180818	ENST00000303460	D	0.91295	-2.82	4.18	1.32	0.21799	.	0.242947	0.39274	N	0.001407	T	0.77519	0.4142	N	0.22421	0.69	0.33997	D	0.649802	B	0.31503	0.326	B	0.16289	0.015	T	0.71421	-0.4598	10	0.33940	T	0.23	.	4.7078	0.12858	0.0:0.4684:0.2542:0.2774	.	18	Q9NYD6	HXC10_HUMAN	V	18	ENSP00000307321:A18V	ENSP00000307321:A18V	A	+	2	0	HOXC10	52665363	1.000000	0.71417	0.992000	0.48379	0.989000	0.77384	3.235000	0.51328	0.180000	0.19960	0.549000	0.68633	GCG		0.597	HOXC10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358952.2			44	130	0	0	0	1	0	44	130					T	54379096	C	T	54379096	3	4	305	1	0	0	0	0	1	0	0	0	7309	768	27	1	55	1	HOXC10	12	54379096	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	1136519	54379096	79472799	682	15199											
OR6C65	403282	broad.mit.edu	37	chr12	55795222	55795222	+	Frame_Shift_Del	DEL	A	A	-																															aggcccttagggaattcaccAaaaaaatattatcattgaac																										TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr12:55795222delA	ENST00000379665.2	+	1	1009	c.910delA	c.(910-912)aaafs	p.K305fs		NM_001005518.1	NP_001005518.1	A6NJZ3	O6C65_HUMAN	olfactory receptor, family 6, subfamily C, member 65	305						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(1)|endometrium(2)|large_intestine(3)|lung(9)	15						GGAATTCACCAAAAAAATATT	0.353																																						ENST00000379665.2																			0				cervix(1)|endometrium(2)|large_intestine(3)|lung(9)	15						c.(910-912)aafs		olfactory receptor, family 6, subfamily C, member 65							30	30	30					12																	55795222		2201	4298	6499	SO:0001589	frameshift_variant	403282				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr12:55795222delA		CCDS31821.1	12q13.2	2013-09-23			ENSG00000205328	ENSG00000205328		"GPCR / Class A : Olfactory receptors"	31295	protein-coding gene	gene with protein product							Standard	NM_001005518		Approved		uc010spl.2	A6NJZ3	OTTHUMG00000169955	ENST00000379665.2:c.910delA	12.37:g.55795222delA	ENSP00000368986:p.Lys305fs						p.K305fs	NM_001005518.1	NP_001005518.1	A6NJZ3	O6C65_HUMAN			1	1009	+			305					B2RNH9	Frame_Shift_Del	DEL	ENST00000379665.2	37	c.910delA	CCDS31821.1																																																																																				0.353	OR6C65-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406674.1			7	31						7	31	---	---	---	---	-	55795222	A	-	55795222	7	5	305	1	0	1	0	1	0	0	0	0	11195	131	5	0	912	0	OR6C65	12	55795222	Frame_Shift_Del	DEL	A	TCGA-KK-A59V-01A-11D-A29Q-08	1416126	55795222	78056673	683	15200											
PAN2	9924	broad.mit.edu	37	chr12	56721408	56721408	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taaaagtacggaggtctctcAgggaaacctagaaaaaaaaa	20	6	9	6	1	2	1	1	0	1	1	3	3	2	3	1	3	2	1	1	3	9	3			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr12:56721408A>G	ENST00000425394.2	-	6	1035	c.659T>C	c.(658-660)cTg>cCg	p.L220P	PAN2_ENST00000440411.3_Missense_Mutation_p.L220P|PAN2_ENST00000548043.1_Missense_Mutation_p.L220P|PAN2_ENST00000257931.5_Missense_Mutation_p.L220P	NM_001127460.2	NP_001120932	Q9HBH5	RDH14_HUMAN	PAN2 poly(A) specific ribonuclease subunit	0					osteoblast differentiation (GO:0001649)	endoplasmic reticulum (GO:0005783)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	oxidoreductase activity (GO:0016491)			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	41					Vitamin A(DB00162)	GAGGTCTCTCAGGGAAACCTA	0.453																																						ENST00000425394.2																			0				NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						c.(658-660)cTg>cCg		PAN2 poly(A) specific ribonuclease subunit homolog (S. cerevisiae)							59	62	61					12																	56721408		2203	4300	6503	SO:0001583	missense	9924				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|ubiquitin-dependent protein catabolic process	cytosol|nucleus	nucleic acid binding|poly(A)-specific ribonuclease activity|ubiquitin thiolesterase activity	g.chr12:56721408A>G	AB014610	CCDS8915.1, CCDS44922.1, CCDS53802.1	12q13.2	2014-03-27	2014-03-27	2008-01-08		ENSG00000135473		"Ubiquitin-specific peptidases"	20074	protein-coding gene	gene with protein product	"PAN2 homolog, PABP1 dependent poly A specific ribonuclease subunit (S. cerevisiae)"		"ubiquitin specific protease 52", "ubiquitin specific peptidase 52", "PAN2 poly(A) specific ribonuclease subunit homolog (S. cerevisiae)"	USP52		12838346, 14583602	Standard	NM_014871		Approved	KIAA0710, hPAN2	uc001skx.3	Q504Q3	OTTHUMG00000170412	ENST00000425394.2:c.659T>C	12.37:g.56721408A>G	ENSP00000401721:p.Leu220Pro					PAN2_ENST00000440411.3_Missense_Mutation_p.L220P|PAN2_ENST00000257931.5_Missense_Mutation_p.L220P|PAN2_ENST00000548043.1_Missense_Mutation_p.L220P	p.L220P	NM_001127460.2	NP_001120932.1	Q504Q3	PAN2_HUMAN			6	1035	-			220						Missense_Mutation	SNP	ENST00000425394.2	37	c.659T>C	CCDS44922.1	.	.	.	.	.	.	.	.	.	.	A	22.9	4.349198	0.82132	.	.	ENSG00000135473	ENST00000425394;ENST00000440411;ENST00000257931;ENST00000548043;ENST00000547572	T;T;T;T;T	0.73258	-0.73;-0.73;-0.73;-0.73;-0.73	5.23	5.23	0.72850	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.64402	D	0.000001	D	0.84257	0.5432	M	0.81497	2.545	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.996;0.996;0.998	D	0.86669	0.1909	10	0.87932	D	0	-8.0843	14.4245	0.67204	1.0:0.0:0.0:0.0	.	220;220;220	Q504Q3-3;Q504Q3-2;Q504Q3	.;.;PAN2_HUMAN	P	220;220;220;220;81	ENSP00000401721:L220P;ENSP00000388231:L220P;ENSP00000257931:L220P;ENSP00000449861:L220P;ENSP00000449092:L81P	ENSP00000257931:L220P	L	-	2	0	PAN2	55007675	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	9.274000	0.95731	2.099000	0.63709	0.533000	0.62120	CTG		0.453	PAN2-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000409024.1	NM_014871		21	59	0	0	0	1	0	21	59					G	56721408	A	G	56721408	3	3	305	1	0	0	0	0	1	0	0	0	11414	188	7	4	3033	4	PAN2	12	56721408	Missense_Mutation	SNP	A	TCGA-KK-A59V-01A-11D-A29Q-08	926186	56721408	77130487	684	15201											
AVPR1A	552	broad.mit.edu	37	chr12	63543657	63543657	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cggcacgtaccggtccagacGgacatgggatcccagacaga	11	4	13	13	4	0	3	0	0	0	3	2	5	2	5	3	4	1	2	3	4	1	1			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr12:63543657G>A	ENST00000299178.2	-	1	1065	c.960C>T	c.(958-960)tcC>tcT	p.S320S		NM_000706.4	NP_000697.1	P37288	V1AR_HUMAN	arginine vasopressin receptor 1A	320					activation of phospholipase C activity (GO:0007202)|blood circulation (GO:0008015)|calcium-mediated signaling (GO:0019722)|cellular response to water deprivation (GO:0042631)|G-protein coupled receptor signaling pathway (GO:0007186)|generation of precursor metabolites and energy (GO:0006091)|grooming behavior (GO:0007625)|maternal aggressive behavior (GO:0002125)|maternal behavior (GO:0042711)|myotube differentiation (GO:0014902)|negative regulation of female receptivity (GO:0007621)|negative regulation of transmission of nerve impulse (GO:0051970)|penile erection (GO:0043084)|positive regulation of cell growth (GO:0030307)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cellular pH reduction (GO:0032849)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of glutamate secretion (GO:0014049)|positive regulation of heart rate (GO:0010460)|positive regulation of prostaglandin biosynthetic process (GO:0031394)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of systemic arterial blood pressure (GO:0003084)|positive regulation of vasoconstriction (GO:0045907)|regulation of systemic arterial blood pressure by vasopressin (GO:0001992)|response to corticosterone (GO:0051412)|social behavior (GO:0035176)|sperm ejaculation (GO:0042713)|telencephalon development (GO:0021537)	cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	peptide hormone binding (GO:0017046)|protein kinase C binding (GO:0005080)|vasopressin receptor activity (GO:0005000)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(12)|prostate(2)|skin(1)	26			BRCA - Breast invasive adenocarcinoma(9;0.193)	GBM - Glioblastoma multiforme(28;0.0569)	Conivaptan(DB00872)|Desmopressin(DB00035)|Felypressin(DB00093)|Terlipressin(DB02638)|Tolvaptan(DB06212)|Vasopressin(DB00067)	CGGTCCAGACGGACATGGGAT	0.532																																						ENST00000299178.2																			0				central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(12)|prostate(2)|skin(1)	26						c.(958-960)tcC>tcT		arginine vasopressin receptor 1A	Conivaptan(DB00872)|Desmopressin(DB00035)|Felypressin(DB00093)|Terlipressin(DB02638)|Vasopressin(DB00067)						84	76	79					12																	63543657		2203	4300	6503	SO:0001819	synonymous_variant	0				activation of phospholipase C activity|elevation of cytosolic calcium ion concentration|generation of precursor metabolites and energy	endosome|integral to plasma membrane	protein kinase C binding|vasopressin receptor activity	g.chr12:63543657G>A	L25615	CCDS8965.1	12q14-q15	2012-08-08				ENSG00000166148		"GPCR / Class A : Vasopressin and oxytocin receptors"	895	protein-coding gene	gene with protein product		600821		AVPR1		8106369	Standard	NM_000706		Approved		uc001sro.2	P37288		ENST00000299178.2:c.960C>T	12.37:g.63543657G>A							p.S320S	NM_000706.4	NP_000697.1	P37288	V1AR_HUMAN	BRCA - Breast invasive adenocarcinoma(9;0.193)	GBM - Glioblastoma multiforme(28;0.0569)	1	1065	-			320						Silent	SNP	ENST00000299178.2	37	c.960C>T	CCDS8965.1																																																																																				0.532	AVPR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406734.1			31	76	0	0	0	1	0	31	76					A	63543657	G	A	63543657	2	1	305	1	0	0	0	0	0	0	0	1	1231	1103	39	2		2	AVPR1A	12	63543657	Silent	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	6822249	63543657	70308238	685	15202											
GRIP1	23426	broad.mit.edu	37	chr12	66990669	66990669	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	agccaacgctccatcaggcgGctttgtctggctggcggatt	6	10	13	12	3	2	0	1	0	1	0	3	1	3	1	2	5	2	3	2	5	1	2			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr12:66990669G>A	ENST00000398016.3	-	2	162	c.94C>T	c.(94-96)Ccg>Tcg	p.P32S	GRIP1_ENST00000286445.7_Missense_Mutation_p.P32S|GRIP1_ENST00000359742.4_Missense_Mutation_p.P32S	NM_021150.3	NP_066973.2	Q96DT0	LEG12_HUMAN	glutamate receptor interacting protein 1	0					intrinsic apoptotic signaling pathway (GO:0097193)	nucleus (GO:0005634)	lactose binding (GO:0030395)			NS(3)|breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(19)|ovary(2)|prostate(2)|skin(1)	50			GBM - Glioblastoma multiforme(2;0.00069)	GBM - Glioblastoma multiforme(28;0.0933)		CCATCAGGCGGCTTTGTCTGG	0.448																																						ENST00000359742.4																			0				NS(3)|breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(19)|ovary(2)|prostate(2)|skin(1)	50						c.(94-96)Ccg>Tcg		glutamate receptor interacting protein 1							105	109	108					12																	66990669		1898	4117	6015	SO:0001583	missense	23426				androgen receptor signaling pathway|intracellular signal transduction|positive regulation of transcription, DNA-dependent|synaptic transmission	cell junction|cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|postsynaptic membrane	androgen receptor binding|beta-catenin binding|protein C-terminus binding|receptor signaling complex scaffold activity|transcription coactivator activity	g.chr12:66990669G>A	AJ133439	CCDS41807.1	12q13.13	2008-05-02			ENSG00000155974	ENSG00000155974			18708	protein-coding gene	gene with protein product		604597				10197531	Standard	NM_021150		Approved		uc001stk.3	Q9Y3R0	OTTHUMG00000169019	ENST00000398016.3:c.94C>T	12.37:g.66990669G>A	ENSP00000381098:p.Pro32Ser					GRIP1_ENST00000286445.7_Missense_Mutation_p.P32S|GRIP1_ENST00000398016.3_Missense_Mutation_p.P32S	p.P32S			Q9Y3R0	GRIP1_HUMAN	GBM - Glioblastoma multiforme(2;0.00069)	GBM - Glioblastoma multiforme(28;0.0933)	2	334	-			32					B2R9N2|G5E970|Q96DS9|Q96PR9|Q9H258|Q9H259|Q9NZ02	Missense_Mutation	SNP	ENST00000398016.3	37	c.94C>T	CCDS41807.1	.	.	.	.	.	.	.	.	.	.	G	11.87	1.766835	0.31320	.	.	ENSG00000155974	ENST00000398016;ENST00000359742;ENST00000286445;ENST00000538211;ENST00000541947	T;T;T;T;T	0.18502	2.24;2.21;2.21;2.24;2.48	5.83	5.83	0.93111	.	0.134588	0.48767	D	0.000177	T	0.14013	0.0339	L	0.29908	0.895	0.42212	D	0.991817	B;B	0.02656	0.0;0.0	B;B	0.09377	0.001;0.004	T	0.10042	-1.0647	9	.	.	.	-19.3222	15.6026	0.76636	0.0:0.0:1.0:0.0	.	32;32	F5H4N6;Q9Y3R0-3	.;.	S	32;32;32;32;58	ENSP00000381098:P32S;ENSP00000352780:P32S;ENSP00000286445:P32S;ENSP00000446047:P32S;ENSP00000438921:P58S	.	P	-	1	0	GRIP1	65276936	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.006000	0.40874	2.749000	0.94314	0.650000	0.86243	CCG		0.448	GRIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401975.2			4	77	0	0	0	1	0	4	77					A	66990669	G	A	66990669	3	1	305	1	0	0	0	0	1	0	0	0	6787	1203	42	3	3228	3	GRIP1	12	66990669	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	3447012	66990669	66861226	686	15203											
MDM2	4193	broad.mit.edu	37	chr12	69233090	69233090	+	Frame_Shift_Del	DEL	C	C	-																															cttcatgcaatgaaatgaatCccccccttccatcacattgc																								rs577942747		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr12:69233090delC	ENST00000350057.5	+	9	862	c.862delC	c.(862-864)cccfs	p.P289fs	MDM2_ENST00000360430.2_Frame_Shift_Del_p.P119fs|MDM2_ENST00000428863.2_Frame_Shift_Del_p.P93fs|MDM2_ENST00000545204.1_Intron|MDM2_ENST00000393412.3_Frame_Shift_Del_p.P41fs|MDM2_ENST00000478070.1_3'UTR|MDM2_ENST00000540827.1_Frame_Shift_Del_p.P119fs|MDM2_ENST00000348801.2_Frame_Shift_Del_p.P88fs|MDM2_ENST00000258149.5_Frame_Shift_Del_p.P259fs|MDM2_ENST00000393413.3_Frame_Shift_Del_p.P41fs|MDM2_ENST00000393410.1_Frame_Shift_Del_p.P66fs|MDM2_ENST00000517852.1_Intron|MDM2_ENST00000462284.1_Frame_Shift_Del_p.P320fs|RP11-611O2.5_ENST00000553141.1_RNA|MDM2_ENST00000299252.4_Frame_Shift_Del_p.P144fs|MDM2_ENST00000356290.4_Frame_Shift_Del_p.P144fs|MDM2_ENST00000544561.1_Intron|MDM2_ENST00000258148.7_Frame_Shift_Del_p.P265fs			Q00987	MDM2_HUMAN	MDM2 proto-oncogene, E3 ubiquitin protein ligase	314	ARF-binding.|Asp/Glu-rich (acidic).|Interaction with MTBP. {ECO:0000250}.|Necessary for interaction with USP2.|Region II.				cellular response to acid chemical (GO:0071229)|cellular response to alkaloid (GO:0071312)|cellular response to antibiotic (GO:0071236)|cellular response to estrogen stimulus (GO:0071391)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to hypoxia (GO:0071456)|cellular response to peptide hormone stimulus (GO:0071375)|cellular response to UV-C (GO:0071494)|cellular response to vitamin B1 (GO:0071301)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|epidermal growth factor receptor signaling pathway (GO:0007173)|establishment of protein localization (GO:0045184)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell cycle arrest (GO:0071157)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043518)|negative regulation of protein processing (GO:0010955)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-lysine modification (GO:0018205)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein export from nucleus (GO:0046827)|protein complex assembly (GO:0006461)|protein destabilization (GO:0031648)|protein localization to nucleus (GO:0034504)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of protein catabolic process (GO:0042176)|response to antibiotic (GO:0046677)|response to carbohydrate (GO:0009743)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|response to ether (GO:0045472)|response to iron ion (GO:0010039)|response to magnesium ion (GO:0032026)|response to morphine (GO:0043278)|synaptic transmission (GO:0007268)|traversing start control point of mitotic cell cycle (GO:0007089)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|synapse (GO:0045202)	enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|ligase activity (GO:0016874)|p53 binding (GO:0002039)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(2)|lung(8)|prostate(1)|urinary_tract(1)	19	all_cancers(1;8.46e-121)|all_epithelial(5;3.21e-36)|Lung NSC(4;2.16e-33)|all_lung(4;3.03e-31)|Glioma(1;1.9e-09)|Breast(13;1.59e-06)|all_neural(1;1.03e-05)|Melanoma(1;0.0171)|Renal(347;0.0684)		all cancers(2;8.67e-65)|GBM - Glioblastoma multiforme(2;8.89e-62)|BRCA - Breast invasive adenocarcinoma(5;2.43e-08)|Lung(24;1.5e-05)|LUAD - Lung adenocarcinoma(15;8.5e-05)|STAD - Stomach adenocarcinoma(21;0.00372)|Kidney(9;0.143)			TGAAATGAATCCCCCCCTTCC	0.428			A		"sarcoma, glioma, colorectal, other"																																	ENST00000462284.1				Dom	yes		12	12q15	4193	A	Mdm2 p53 binding protein homolog			"M, O, E, L"			"sarcoma, glioma, colorectal, other"		0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(2)|lung(8)|prostate(1)|urinary_tract(1)	19						c.(955-957)ccfs		MDM2 oncogene, E3 ubiquitin protein ligase							114	100	105					12																	69233090		1877	4119	5996	SO:0001589	frameshift_variant	4193				cellular response to hypoxia|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|establishment of protein localization|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell cycle arrest|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell proliferation|positive regulation of mitotic cell cycle|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein complex assembly|protein destabilization|protein localization to nucleus|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to antibiotic|synaptic transmission	cytosol|endocytic vesicle membrane|insoluble fraction|nucleolus|nucleoplasm|plasma membrane|protein complex	enzyme binding|identical protein binding|p53 binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr12:69233090delC		CCDS8986.2, CCDS61189.1	12q13-q14	2014-06-26	2014-06-26		ENSG00000135679	ENSG00000135679			6973	protein-coding gene	gene with protein product		164785	"mouse double minute 2, human homolog of; p53-binding protein", "Mdm2, transformed 3T3 cell double minute 2, p53 binding protein (mouse)", "Mdm2 p53 binding protein homolog (mouse)"			1614537, 16905769	Standard	NM_002392		Approved	HDM2, MGC5370	uc001sui.4	Q00987	OTTHUMG00000142827	ENST00000350057.5:c.862delC	12.37:g.69233090delC	ENSP00000266624:p.Pro289fs					MDM2_ENST00000545204.1_Intron|MDM2_ENST00000350057.5_Frame_Shift_Del_p.P289fs|MDM2_ENST00000517852.1_Intron|MDM2_ENST00000393410.1_Frame_Shift_Del_p.P66fs|MDM2_ENST00000393412.3_Frame_Shift_Del_p.P41fs|MDM2_ENST00000393413.3_Frame_Shift_Del_p.P41fs|MDM2_ENST00000544561.1_Intron|MDM2_ENST00000540827.1_Frame_Shift_Del_p.P119fs|MDM2_ENST00000360430.2_Frame_Shift_Del_p.P119fs|MDM2_ENST00000356290.4_Frame_Shift_Del_p.P144fs|MDM2_ENST00000348801.2_Frame_Shift_Del_p.P88fs|MDM2_ENST00000299252.4_Frame_Shift_Del_p.P144fs|MDM2_ENST00000258148.7_Frame_Shift_Del_p.P265fs|MDM2_ENST00000258149.5_Frame_Shift_Del_p.P259fs|MDM2_ENST00000478070.1_3'UTR|MDM2_ENST00000428863.2_Frame_Shift_Del_p.P93fs	p.P320fs	NM_002392.4	NP_002383.2	Q00987	MDM2_HUMAN	all cancers(2;8.67e-65)|GBM - Glioblastoma multiforme(2;8.89e-62)|BRCA - Breast invasive adenocarcinoma(5;2.43e-08)|Lung(24;1.5e-05)|LUAD - Lung adenocarcinoma(15;8.5e-05)|STAD - Stomach adenocarcinoma(21;0.00372)|Kidney(9;0.143)		11	1257	+	all_cancers(1;8.46e-121)|all_epithelial(5;3.21e-36)|Lung NSC(4;2.16e-33)|all_lung(4;3.03e-31)|Glioma(1;1.9e-09)|Breast(13;1.59e-06)|all_neural(1;1.03e-05)|Melanoma(1;0.0171)|Renal(347;0.0684)		314			Necessary for interaction with USP2.|Region II.		A6NL51|A8K2S6|Q13226|Q13297|Q13298|Q13299|Q13300|Q13301|Q53XW0|Q71TW9|Q8WYJ1|Q8WYJ2|Q9UGI3|Q9UMT8	Frame_Shift_Del	DEL	ENST00000350057.5	37	c.955delC																																																																																					0.428	MDM2-033	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000402665.1	NM_006880		31	94						31	94	---	---	---	---	-	69233090	C	-	69233090	7	5	305	1	0	1	0	1	0	0	0	0	9413	855	30	0	997	0	MDM2	12	69233090	Frame_Shift_Del	DEL	C	TCGA-KK-A59V-01A-11D-A29Q-08	2242421	69233090	64618805	687	15204											
CPSF6	11052	broad.mit.edu	37	chr12	69651670	69651670	+	Frame_Shift_Del	DEL	C	C	-																															cagcaggaccaggagggccaCccccaccttttccaggtaaa																								rs61754516		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr12:69651670delC	ENST00000435070.2	+	5	789	c.679delC	c.(679-681)cccfs	p.P229fs	CPSF6_ENST00000266679.8_Frame_Shift_Del_p.P229fs|CPSF6_ENST00000551516.1_Intron|CPSF6_ENST00000456847.3_Intron	NM_007007.2	NP_008938.2	Q16630	CPSF6_HUMAN	cleavage and polyadenylation specific factor 6, 68kDa	229	Pro-rich.				mRNA polyadenylation (GO:0006378)|mRNA processing (GO:0006397)|protein tetramerization (GO:0051262)	membrane (GO:0016020)|mRNA cleavage factor complex (GO:0005849)|nucleus (GO:0005634)|paraspeckles (GO:0042382)|ribonucleoprotein complex (GO:0030529)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			endometrium(1)|large_intestine(7)|lung(8)	16	all_epithelial(5;2.47e-36)|Lung NSC(4;1.1e-32)|all_lung(4;6.26e-31)|Breast(13;1.59e-06)|Esophageal squamous(21;0.187)		Epithelial(6;4.89e-17)|BRCA - Breast invasive adenocarcinoma(5;8.5e-10)|Lung(24;6.04e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.0151)|LUSC - Lung squamous cell carcinoma(43;0.171)|Kidney(9;0.241)			AGGAGGGCCACCCCCACCTTT	0.483																																						ENST00000435070.2																			0				endometrium(1)|large_intestine(7)|lung(8)	16						c.(679-681)ccfs		cleavage and polyadenylation specific factor 6, 68kDa							61	65	63					12																	69651670		2203	4300	6503	SO:0001589	frameshift_variant	11052				mRNA polyadenylation|protein tetramerization	mRNA cleavage factor complex|paraspeckles|ribonucleoprotein complex	mRNA binding|nucleotide binding|protein binding	g.chr12:69651670delC	X67336	CCDS8988.1, CCDS73494.1	12q15	2013-06-18	2002-08-29			ENSG00000111605		"RNA binding motif (RRM) containing"	13871	protein-coding gene	gene with protein product	"cleavage factor Im complex 68 kDa subunit"	604979	"cleavage and polyadenylation specific factor 6, 68kD subunit"			9659921, 17267687	Standard	NM_007007		Approved	CFIM, HPBRII-4, HPBRII-7, CFIM68	uc001sut.4	Q16630		ENST00000435070.2:c.679delC	12.37:g.69651670delC	ENSP00000391774:p.Pro229fs					CPSF6_ENST00000551516.1_Intron|CPSF6_ENST00000266679.8_Frame_Shift_Del_p.P229fs|CPSF6_ENST00000456847.3_Intron	p.P229fs	NM_007007.2	NP_008938.2	Q16630	CPSF6_HUMAN	Epithelial(6;4.89e-17)|BRCA - Breast invasive adenocarcinoma(5;8.5e-10)|Lung(24;6.04e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.0151)|LUSC - Lung squamous cell carcinoma(43;0.171)|Kidney(9;0.241)		5	789	+	all_epithelial(5;2.47e-36)|Lung NSC(4;1.1e-32)|all_lung(4;6.26e-31)|Breast(13;1.59e-06)|Esophageal squamous(21;0.187)		229			Pro-rich.		A8K7K9|Q53ES1|Q9BSJ7|Q9BW18	Frame_Shift_Del	DEL	ENST00000435070.2	37	c.679delC	CCDS8988.1																																																																																				0.483	CPSF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403609.1	NM_007007		31	84						31	84	---	---	---	---	-	69651670	C	-	69651670	7	5	305	1	0	1	0	1	0	0	0	0	3829	507	18	0	697	0	CPSF6	12	69651670	Frame_Shift_Del	DEL	C	TCGA-KK-A59V-01A-11D-A29Q-08	418580	69651670	64200225	688	15205											
TRHDE	29953	broad.mit.edu	37	chr12	73056913	73056913	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aaactgtcgaagccaatgtgCgctggaaaatgctttaccaa	14	9	9	9	2	0	0	0	0	0	0	1	2	0	1	2	1	5	2	2	1	7	2			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr12:73056913C>T	ENST00000261180.4	+	19	3109	c.3013C>T	c.(3013-3015)Cgc>Tgc	p.R1005C		NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	1005					cell-cell signaling (GO:0007267)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						AGCCAATGTGCGCTGGAAAAT	0.383																																						ENST00000261180.4																			0				NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						c.(3013-3015)Cgc>Tgc		thyrotropin-releasing hormone degrading enzyme							60	62	62					12																	73056913		2203	4300	6503	SO:0001583	missense	29953				cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding	g.chr12:73056913C>T	AF126372	CCDS9004.1	12q15-q21	2012-07-25		2005-08-09		ENSG00000072657	3.4.19.6		30748	protein-coding gene	gene with protein product	"pyroglutamyl-peptidase II", "pyroglutamyl aminopeptidase II", "TRH-specific aminopeptidase"	606950				10491199, 12975309	Standard	NM_013381		Approved	PGPEP2, TRH-DE, PAP-II	uc001sxa.3	Q9UKU6		ENST00000261180.4:c.3013C>T	12.37:g.73056913C>T	ENSP00000261180:p.Arg1005Cys						p.R1005C	NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN			19	3109	+			1005					A5PL19|Q6UWJ4	Missense_Mutation	SNP	ENST00000261180.4	37	c.3013C>T	CCDS9004.1	.	.	.	.	.	.	.	.	.	.	C	19.84	3.902720	0.72754	.	.	ENSG00000072657	ENST00000261180	T	0.01438	4.89	5.35	4.41	0.53225	.	0.121053	0.56097	D	0.000033	T	0.06781	0.0173	M	0.69358	2.11	0.58432	D	0.999999	D	0.89917	1.0	D	0.64506	0.926	T	0.06844	-1.0804	10	0.62326	D	0.03	.	15.9638	0.79950	0.1349:0.8651:0.0:0.0	.	1005	Q9UKU6	TRHDE_HUMAN	C	1005	ENSP00000261180:R1005C	ENSP00000261180:R1005C	R	+	1	0	TRHDE	71343180	0.992000	0.36948	0.998000	0.56505	0.939000	0.58152	2.952000	0.49097	2.673000	0.90976	0.557000	0.71058	CGC		0.383	TRHDE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405380.1	NM_013381		15	36	0	0	0	1	0	15	36					T	73056913	C	T	73056913	3	4	305	1	0	0	0	0	1	0	0	0	16476	768	27	1	3087	1	TRHDE	12	73056913	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	3405243	73056913	60794982	689	15206											
DUSP6	1848	broad.mit.edu	37	chr12	89744489	89744489	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttcggcaaattgggggtgacGttcaagatgtacttgatgcc	9	12	13	7	2	1	3	1	2	0	1	2	3	1	3	1	3	2	3	1	3	3	5			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr12:89744489G>A	ENST00000279488.7	-	2	1945	c.714C>T	c.(712-714)aaC>aaT	p.N238N	DUSP6_ENST00000547291.1_Silent_p.N113N|DUSP6_ENST00000547140.1_5'UTR|DUSP6_ENST00000308385.6_Intron	NM_001946.2	NP_001937.2	Q16828	DUS6_HUMAN	dual specificity phosphatase 6	238	Tyrosine-protein phosphatase.				cell differentiation (GO:0030154)|dorsal/ventral pattern formation (GO:0009953)|inactivation of MAPK activity (GO:0000188)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of apoptotic process (GO:0043065)|regulation of endodermal cell fate specification (GO:0042663)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|regulation of heart growth (GO:0060420)|response to drug (GO:0042493)|response to nitrosative stress (GO:0051409)|response to organic cyclic compound (GO:0014070)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	MAP kinase tyrosine/serine/threonine phosphatase activity (GO:0017017)|protein tyrosine phosphatase activity (GO:0004725)			large_intestine(5)|lung(8)|skin(2)|urinary_tract(1)	16						TGGGGGTGACGTTCAAGATGT	0.493																																					Colon(132;3456 5224)	ENST00000279488.7																			0				large_intestine(5)|lung(8)|skin(2)|urinary_tract(1)	16						c.(712-714)aaC>aaT		dual specificity phosphatase 6							169	175	173					12																	89744489		2203	4300	6503	SO:0001819	synonymous_variant	1848				dorsal/ventral pattern formation|inactivation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|nerve growth factor receptor signaling pathway|positive regulation of apoptosis|regulation of endodermal cell fate specification|regulation of fibroblast growth factor receptor signaling pathway|regulation of heart growth|response to nitrosative stress|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity	g.chr12:89744489G>A	BC037236	CCDS9033.1, CCDS9034.1	12q22-q23	2011-06-09				ENSG00000139318		"Protein tyrosine phosphatases / Class I Cys-based PTPs : MAP kinase phosphatases"	3072	protein-coding gene	gene with protein product		602748				8626780, 9205128	Standard	NM_001946		Approved	MKP-3, PYST1	uc001tay.3	Q16828		ENST00000279488.7:c.714C>T	12.37:g.89744489G>A						DUSP6_ENST00000308385.6_Intron|DUSP6_ENST00000547291.1_Silent_p.N113N|DUSP6_ENST00000547140.1_5'UTR	p.N238N	NM_001946.2	NP_001937.2	Q16828	DUS6_HUMAN			2	1945	-			238			Tyrosine-protein phosphatase.		O75109|Q53Y75|Q9BSH6	Silent	SNP	ENST00000279488.7	37	c.714C>T	CCDS9033.1																																																																																				0.493	DUSP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406534.2	NM_001946, NM_022652		8	216	0	0	0	1	0	8	216					A	89744489	G	A	89744489	2	1	305	1	0	0	0	0	0	0	0	1	4829	1136	40	1		1	DUSP6	12	89744489	Silent	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	16687576	89744489	44107406	690	15207											
C12orf12	196477	broad.mit.edu	37	chr12	91348186	91348186	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gcagagagggtgcaggccatAcacccgaaacacttgcaccg	12	4	12	13	2	0	1	0	0	0	1	0	3	0	1	3	2	4	3	3	2	2	2			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr12:91348186A>G	ENST00000358859.2	-	1	767	c.334T>C	c.(334-336)Tat>Cat	p.Y112H	CCER1_ENST00000548187.1_Intron	NM_152638.2	NP_689851.1	Q8TC90	CCER1_HUMAN	coiled-coil glutamate-rich protein 1	112																	TGCAGGCCATACACCCGAAAC	0.662																																						ENST00000358859.2																			0											c.(334-336)Tat>Cat		coiled-coil glutamate-rich protein 1							25	30	28					12																	91348186		2202	4300	6502	SO:0001583	missense	196477							g.chr12:91348186A>G	BC024183	CCDS9036.1	12q21.33	2012-05-30	2012-05-30	2012-05-30	ENSG00000197651	ENSG00000197651			28373	protein-coding gene	gene with protein product			"chromosome 12 open reading frame 12"	C12orf12		17967063	Standard	NM_152638		Approved	MGC26598	uc001tbj.3	Q8TC90	OTTHUMG00000170070	ENST00000358859.2:c.334T>C	12.37:g.91348186A>G	ENSP00000351727:p.Tyr112His					CCER1_ENST00000548187.1_Intron	p.Y112H	NM_152638.2	NP_689851.1					1	767	-								Q8TC47	Missense_Mutation	SNP	ENST00000358859.2	37	c.334T>C	CCDS9036.1	.	.	.	.	.	.	.	.	.	.	A	13.30	2.195265	0.38806	.	.	ENSG00000197651	ENST00000358859	T	0.49139	0.79	4.62	3.48	0.39840	.	0.274127	0.19640	N	0.109464	T	0.32376	0.0827	L	0.27053	0.805	0.27567	N	0.950005	B	0.32800	0.385	B	0.33295	0.161	T	0.26815	-1.0092	10	0.87932	D	0	-6.6868	6.5948	0.22666	0.8929:0.0:0.1071:0.0	.	112	Q8TC90	CL012_HUMAN	H	112	ENSP00000351727:Y112H	ENSP00000351727:Y112H	Y	-	1	0	C12orf12	89872317	0.370000	0.25047	0.577000	0.28562	0.272000	0.26649	2.516000	0.45520	0.802000	0.34089	0.379000	0.24179	TAT		0.662	CCER1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407142.2	NM_152638		14	40	0	0	0	1	0	14	40					G	91348186	A	G	91348186	3	3	305	1	0	0	0	0	1	0	0	0	1676	391	14	4	890	4	C12orf12	12	91348186	Missense_Mutation	SNP	A	TCGA-KK-A59V-01A-11D-A29Q-08	1603697	91348186	42503709	691	15208											
IKBIP	121457	broad.mit.edu	37	chr12	99020465	99020465	+	Intron	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	catgcatgatatcttggaggTtggatacttcctgctcaaac	10	13	9	9	0	2	1	1	1	1	0	3	3	3	3	1	3	4	3	1	3	3	5			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr12:99020465T>C	ENST00000342502.2	-	2	709				IKBIP_ENST00000299157.4_Missense_Mutation_p.N126S|IKBIP_ENST00000420861.1_Intron|IKBIP_ENST00000393042.3_Intron	NM_201612.2	NP_963906.1	Q70UQ0	IKIP_HUMAN	IKBKB interacting protein						response to X-ray (GO:0010165)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				NS(1)|kidney(1)|large_intestine(1)|lung(1)|prostate(2)	6						ATCTTGGAGGTTGGATACTTC	0.393																																						ENST00000299157.4																			0				NS(1)|kidney(1)|large_intestine(1)|lung(1)|prostate(2)	6						c.(376-378)aAc>aGc		IKBKB interacting protein							86	83	84					12																	99020465		2203	4300	6503	SO:0001627	intron_variant	121457				induction of apoptosis|response to X-ray	endoplasmic reticulum membrane|integral to membrane	protein binding	g.chr12:99020465T>C	AJ539425	CCDS9067.1, CCDS9068.1, CCDS41822.1	12q23.1	2010-02-17			ENSG00000166130	ENSG00000166130			26430	protein-coding gene	gene with protein product	"I kappa B kinase interacting protein"	609861				15389287	Standard	NM_153687		Approved	FLJ31051, IKIP	uc001tfx.4	Q70UQ0	OTTHUMG00000170213	ENST00000342502.2:c.297+7608A>G	12.37:g.99020465T>C						IKBIP_ENST00000393042.3_Intron|IKBIP_ENST00000342502.2_Intron|IKBIP_ENST00000420861.1_Intron	p.N126S	NM_153687.3	NP_710154.1	Q70UQ0	IKIP_HUMAN			3	750	-			128					Q6ZWH4|Q70UP9|Q86V91|Q96ND2	Missense_Mutation	SNP	ENST00000342502.2	37	c.377A>G	CCDS9067.1	.	.	.	.	.	.	.	.	.	.	T	0.466	-0.886846	0.02511	.	.	ENSG00000166130	ENST00000299157	T	0.39787	1.06	5.68	3.83	0.44106	.	0.779066	0.12807	N	0.437503	T	0.23330	0.0564	.	.	.	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.03773	-1.1005	9	0.07325	T	0.83	-1.0127	10.3718	0.44058	0.0:0.5429:0.3825:0.0746	.	126	Q70UQ0-4	.	S	126	ENSP00000299157:N126S	ENSP00000299157:N126S	N	-	2	0	IKBIP	97544596	0.857000	0.29778	1.000000	0.80357	0.924000	0.55760	0.186000	0.16978	0.710000	0.31997	-0.242000	0.12053	AAC		0.393	IKBIP-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000408003.2	NM_153687		22	52	0	0	0	1	0	22	52					C	99020465	T	C	99020465	1	2	305	0	1	0	0	0	0	0	0	0	7609	1725	60	4		4	IKBIP	12	99020465	Intron	SNP	T	TCGA-KK-A59V-01A-11D-A29Q-08	7672279	99020465	34831430	692	15209											
SYCP3	50511	broad.mit.edu	37	chr12	102125434	102125434	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gaagaatcttttgttgctgtCgaaacatattctacaaatat	14	15	6	6	1	2	1	0	0	2	1	3	3	2	1	0	0	3	2	0	0	7	7	rs202152104		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr12:102125434C>T	ENST00000392927.3	-	7	595	c.464G>A	c.(463-465)cGa>cAa	p.R155Q	SYCP3_ENST00000266743.2_Missense_Mutation_p.R155Q|SYCP3_ENST00000392924.1_Missense_Mutation_p.R155Q	NM_001177948.1|NM_001177949.1|NM_153694.4	NP_001171419.1|NP_001171420.1|NP_710161.1	Q8IZU3	SYCP3_HUMAN	synaptonemal complex protein 3	155	Gln-rich.				male meiosis I (GO:0007141)|spermatogenesis, exchange of chromosomal proteins (GO:0035093)	chromosome (GO:0005694)|nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(2)|kidney(2)|large_intestine(1)|lung(5)|skin(1)	11						TTGTTGCTGTCGAAACATATT	0.249													C|||	1	0.000199681	0	0	5008	,	,		14767	0.001		0	False		,,,				2504	0					ENST00000392927.3																			0				endometrium(2)|kidney(2)|large_intestine(1)|lung(5)|skin(1)	11						c.(463-465)cGa>cAa		synaptonemal complex protein 3							47	46	47					12																	102125434		2200	4280	6480	SO:0001583	missense	50511				cell division|male meiosis I|spermatogenesis, exchange of chromosomal proteins	nucleus	DNA binding	g.chr12:102125434C>T	AF492003, AI075991	CCDS9087.1	12q23.2	2007-02-05			ENSG00000139351	ENSG00000139351			18130	protein-coding gene	gene with protein product		604759				12213195, 10854409	Standard	NM_153694		Approved		uc001tis.3	Q8IZU3	OTTHUMG00000150132	ENST00000392927.3:c.464G>A	12.37:g.102125434C>T	ENSP00000376658:p.Arg155Gln					SYCP3_ENST00000266743.2_Missense_Mutation_p.R155Q|SYCP3_ENST00000392924.1_Missense_Mutation_p.R155Q	p.R155Q	NM_001177948.1|NM_001177949.1|NM_153694.4	NP_001171419.1|NP_001171420.1|NP_710161.1	Q8IZU3	SYCP3_HUMAN			7	595	-			155			Gln-rich.			Missense_Mutation	SNP	ENST00000392927.3	37	c.464G>A	CCDS9087.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	10.54	1.377816	0.24944	.	.	ENSG00000139351	ENST00000266743;ENST00000392927;ENST00000392924	.	.	.	4.57	2.73	0.32206	.	0.235594	0.33127	N	0.005260	T	0.27313	0.0670	N	0.19112	0.55	0.52501	D	0.999954	B	0.33777	0.425	B	0.25140	0.058	T	0.19811	-1.0294	9	0.02654	T	1	-0.4485	10.4124	0.44301	0.0:0.8409:0.0:0.1591	.	155	Q8IZU3	SYCP3_HUMAN	Q	155	.	ENSP00000266743:R155Q	R	-	2	0	SYCP3	100649565	1.000000	0.71417	1.000000	0.80357	0.907000	0.53573	2.056000	0.41355	0.637000	0.30526	0.313000	0.20887	CGA		0.249	SYCP3-001	KNOWN	alternative_5_UTR|upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316478.2	NM_153694		3	18	0	0	0	1	0	3	18					T	102125434	C	T	102125434	3	4	305	1	0	0	0	0	1	0	0	0	15431	884	31	2	258	2	SYCP3	12	102125434	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	3104969	102125434	31726461	693	15210											
USP30	84749	broad.mit.edu	37	chr12	109522826	109522826	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cctgctccccatctttattgCcaacgctgtcagcgccgatg	6	11	8	16	3	2	0	1	0	1	0	3	1	3	0	5	0	4	2	5	0	2	3			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr12:109522826C>T	ENST00000257548.5	+	12	1330	c.1237C>T	c.(1237-1239)Cca>Tca	p.P413S	USP30_ENST00000392784.2_Missense_Mutation_p.P382S	NM_032663.3	NP_116052.2	Q70CQ3	UBP30_HUMAN	ubiquitin specific peptidase 30	413	USP.				mitochondrial fusion (GO:0008053)|mitochondrion degradation (GO:0000422)|protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)	integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	cysteine-type endopeptidase activity (GO:0004197)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			endometrium(7)|kidney(1)|large_intestine(1)|liver(2)|lung(11)|prostate(1)|skin(3)|stomach(2)	28						ATCTTTATTGCCAACGCTGTC	0.522																																						ENST00000257548.5																			0				endometrium(7)|kidney(1)|large_intestine(1)|liver(2)|lung(11)|prostate(1)|skin(3)|stomach(2)	28						c.(1237-1239)Cca>Tca		ubiquitin specific peptidase 30							181	198	192					12																	109522826		2203	4300	6503	SO:0001583	missense	84749				ubiquitin-dependent protein catabolic process	integral to membrane|mitochondrial outer membrane	cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr12:109522826C>T	BC022094	CCDS9123.2	12q23.3	2006-01-20	2005-08-08		ENSG00000135093	ENSG00000135093		"Ubiquitin-specific peptidases"	20065	protein-coding gene	gene with protein product		612492	"ubiquitin specific protease 30"			12838346	Standard	XM_005253962		Approved	MGC10702, FLJ40511	uc010sxi.2	Q70CQ3	OTTHUMG00000133613	ENST00000257548.5:c.1237C>T	12.37:g.109522826C>T	ENSP00000257548:p.Pro413Ser					USP30_ENST00000392784.2_Missense_Mutation_p.P382S	p.P413S	NM_032663.3	NP_116052.2	Q70CQ3	UBP30_HUMAN			12	1330	+			413					Q8WTU7|Q96JX4|Q9BSS3	Missense_Mutation	SNP	ENST00000257548.5	37	c.1237C>T	CCDS9123.2	.	.	.	.	.	.	.	.	.	.	C	11.10	1.538680	0.27475	.	.	ENSG00000135093	ENST00000392784;ENST00000257548	T;T	0.73047	-0.71;-0.71	5.5	5.5	0.81552	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.336641	0.35772	N	0.003000	T	0.66858	0.2832	N	0.05441	-0.05	0.44316	D	0.997195	B;D	0.89917	0.011;1.0	B;D	0.87578	0.012;0.998	T	0.62402	-0.6862	10	0.09084	T	0.74	-21.4459	14.8977	0.70656	0.0:1.0:0.0:0.0	.	413;382	Q70CQ3;B3KUS5	UBP30_HUMAN;.	S	382;413	ENSP00000376535:P382S;ENSP00000257548:P413S	ENSP00000257548:P413S	P	+	1	0	USP30	108007209	0.996000	0.38824	0.738000	0.30950	0.090000	0.18270	1.868000	0.39509	2.575000	0.86900	0.650000	0.86243	CCA		0.522	USP30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257733.2	NM_032663		16	360	0	0	0	1	0	16	360					T	109522826	C	T	109522826	3	4	305	1	0	0	0	0	1	0	0	0	17058	739	26	3	1283	3	USP30	12	109522826	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	7397392	109522826	24329069	694	15211											
C12orf51	283450	broad.mit.edu	37	chr12	112708216	112708216	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtgtatgcacatcgcaccaaCgtggtgcaataattggttta	11	12	10	8	2	0	0	0	0	0	0	1	0	0	0	1	2	3	5	1	2	5	5			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr12:112708216C>T	ENST00000430131.2	-	11	1839	c.694G>A	c.(694-696)Gtt>Att	p.V232I	HECTD4_ENST00000550722.1_Missense_Mutation_p.V520I|HECTD4_ENST00000377560.5_Missense_Mutation_p.V482I			Q9Y4D8	HECD4_HUMAN	HECT domain containing E3 ubiquitin protein ligase 4	232					glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)	p.V482I(1)|p.V232I(1)									ATCGCACCAACGTGGTGCAAT	0.448																																						ENST00000550722.1																			2	Substitution - Missense(2)	p.V482I(1)|p.V232I(1)	lung(2)								c.(1558-1560)Gtt>Att		HECT domain containing E3 ubiquitin protein ligase 4							284	283	283					12																	112708216		2203	4300	6503	SO:0001583	missense	283450							g.chr12:112708216C>T	AK091473		12q24.13	2013-07-17	2012-08-14	2012-08-14	ENSG00000173064	ENSG00000173064			26611	protein-coding gene	gene with protein product			"chromosome 12 open reading frame 51"	C12orf51		21270382	Standard	NM_001109662		Approved	FLJ34154, KIAA0614	uc021reb.1	Q9Y4D8	OTTHUMG00000150719	ENST00000430131.2:c.694G>A	12.37:g.112708216C>T	ENSP00000404379:p.Val232Ile					HECTD4_ENST00000430131.2_Missense_Mutation_p.V232I|HECTD4_ENST00000377560.5_Missense_Mutation_p.V482I	p.V520I	NM_001109662.3	NP_001103132.3					12	1953	-								L8B0P6|Q3MJD5|Q6P0A0|Q7L530|Q8NB70|Q8WU73|Q96NT9|Q9NZS4|Q9UFT6	Missense_Mutation	SNP	ENST00000430131.2	37	c.1558G>A		.	.	.	.	.	.	.	.	.	.	C	24.8	4.569757	0.86439	.	.	ENSG00000173064	ENST00000377560;ENST00000430131;ENST00000550722	T;T;T	0.57752	0.39;0.4;0.38	5.78	5.78	0.91487	.	.	.	.	.	T	0.59662	0.2210	N	0.19112	0.55	0.48087	D	0.999587	D;D;D	0.57899	0.981;0.968;0.981	P;P;P	0.62184	0.899;0.854;0.899	T	0.64028	-0.6503	9	0.87932	D	0	.	20.0079	0.97439	0.0:1.0:0.0:0.0	.	232;232;232	Q9Y4D8-2;Q9Y4D8;Q9Y4D8-3	.;K0614_HUMAN;.	I	482;232;520	ENSP00000366783:V482I;ENSP00000404379:V232I;ENSP00000449784:V520I	ENSP00000366783:V482I	V	-	1	0	C12orf51	111192599	1.000000	0.71417	0.994000	0.49952	0.986000	0.74619	7.456000	0.80751	2.722000	0.93159	0.655000	0.94253	GTT		0.448	HECTD4-202	KNOWN	basic	protein_coding	protein_coding		NM_173813		5	229	0	0	0	1	0	5	229					T	112708216	C	T	112708216	3	4	305	1	0	0	0	0	1	0	0	0	1696	536	19	1	11556	1	C12orf51	12	112708216	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	3185390	112708216	21143679	695	15212											
DTX1	1840	broad.mit.edu	37	chr12	113534571	113534571	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaagactcatcttcactatcGgcacgtccaacaccacgggc	11	7	8	15	3	3	1	2	0	1	1	5	2	4	1	2	2	1	1	2	2	3	2			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr12:113534571G>A	ENST00000257600.3	+	9	2193	c.1690G>A	c.(1690-1692)Ggc>Agc	p.G564S	DTX1_ENST00000547974.1_3'UTR	NM_004416.2	NP_004407.2	Q86Y01	DTX1_HUMAN	deltex 1, E3 ubiquitin ligase	564					cell surface receptor signaling pathway (GO:0007166)|glial cell differentiation (GO:0010001)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of T cell differentiation (GO:0045581)|Notch signaling pathway (GO:0007219)|protein ubiquitination (GO:0016567)|regulation of Notch signaling pathway (GO:0008593)|regulation of RNA biosynthetic process (GO:2001141)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ligase activity (GO:0016874)|Notch binding (GO:0005112)|transcription coactivator activity (GO:0003713)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	32						CTTCACTATCGGCACGTCCAA	0.632																																						ENST00000257600.3																			0				central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	32						c.(1690-1692)Ggc>Agc		deltex homolog 1 (Drosophila)							75	50	58					12																	113534571		2203	4300	6503	SO:0001583	missense	1840				negative regulation of neuron differentiation|Notch signaling pathway|regulation of Notch signaling pathway|transcription from RNA polymerase II promoter	cytoplasm|nucleus	Notch binding|SH3 domain binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding	g.chr12:113534571G>A	AF053700	CCDS9164.1	12q24	2014-01-28	2014-01-28			ENSG00000135144			3060	protein-coding gene	gene with protein product		602582	"deltex homolog 1 (Drosophila)"			9590294, 12670957	Standard	NM_004416		Approved	hDx-1	uc001tuk.1	Q86Y01	OTTHUMG00000169610	ENST00000257600.3:c.1690G>A	12.37:g.113534571G>A	ENSP00000257600:p.Gly564Ser					DTX1_ENST00000547974.1_3'UTR	p.G564S	NM_004416.2	NP_004407.2	Q86Y01	DTX1_HUMAN			9	2193	+			564					O60630|Q9BS04	Missense_Mutation	SNP	ENST00000257600.3	37	c.1690G>A	CCDS9164.1	.	.	.	.	.	.	.	.	.	.	G	17.32	3.359287	0.61403	.	.	ENSG00000135144	ENST00000257600	T	0.53423	0.62	4.99	4.09	0.47781	.	0.056716	0.64402	D	0.000001	T	0.69223	0.3087	M	0.86178	2.8	0.58432	D	0.999997	D	0.65815	0.995	D	0.67103	0.949	T	0.73319	-0.4020	10	0.51188	T	0.08	-11.1911	13.5483	0.61717	0.0:0.0:0.8426:0.1574	.	564	Q86Y01	DTX1_HUMAN	S	564	ENSP00000257600:G564S	ENSP00000257600:G564S	G	+	1	0	DTX1	112018954	1.000000	0.71417	0.599000	0.28851	0.002000	0.02628	9.790000	0.99075	1.070000	0.40811	0.561000	0.74099	GGC		0.632	DTX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405045.2			9	24	0	0	0	1	0	9	24					A	113534571	G	A	113534571	3	1	305	1	0	0	0	0	1	0	0	0	4793	1116	39	2	1724	2	DTX1	12	113534571	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	826355	113534571	20317324	696	15213											
SDSL	113675	broad.mit.edu	37	chr12	113875851	113875851	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aacatcaacagccgagagctGcaggctttgaaaacccacct	14	6	8	13	1	1	2	1	1	0	1	1	3	1	2	3	1	6	3	3	1	4	1			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr12:113875851G>A	ENST00000403593.4	+	8	1219	c.957G>A	c.(955-957)ctG>ctA	p.L319L	SDSL_ENST00000345635.4_Silent_p.L319L			Q96GA7	SDSL_HUMAN	serine dehydratase-like	319					cellular amino acid metabolic process (GO:0006520)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	L-serine ammonia-lyase activity (GO:0003941)|L-threonine ammonia-lyase activity (GO:0004794)|pyridoxal phosphate binding (GO:0030170)			endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)	15						GCCGAGAGCTGCAGGCTTTGA	0.622																																						ENST00000403593.4																			0				endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)	15						c.(955-957)ctG>ctA		serine dehydratase-like	Pyridoxal Phosphate(DB00114)						105	111	109					12																	113875851		2203	4300	6503	SO:0001819	synonymous_variant	113675				cellular amino acid metabolic process		L-serine ammonia-lyase activity|L-threonine ammonia-lyase activity|pyridoxal phosphate binding	g.chr12:113875851G>A	AF134473	CCDS9170.1	12q24.21	2014-06-24				ENSG00000139410			30404	protein-coding gene	gene with protein product						16580895	Standard	NM_138432		Approved	SDS-RS1, cSDH	uc001tvi.3	Q96GA7		ENST00000403593.4:c.957G>A	12.37:g.113875851G>A						SDSL_ENST00000345635.4_Silent_p.L319L	p.L319L			Q96GA7	SDSL_HUMAN			8	1219	+			319						Silent	SNP	ENST00000403593.4	37	c.957G>A	CCDS9170.1	.	.	.	.	.	.	.	.	.	.	G	0.022	-1.407253	0.01155	.	.	ENSG00000139410	ENST00000546672	.	.	.	4.51	-5.39	0.02664	.	.	.	.	.	T	0.35885	0.0947	.	.	.	0.48511	D	0.999669	.	.	.	.	.	.	T	0.37686	-0.9695	4	.	.	.	-13.682	1.487	0.02449	0.222:0.3662:0.1323:0.2795	.	.	.	.	Y	215	.	.	C	+	2	0	SDSL	112360234	0.001000	0.12720	0.383000	0.26132	0.010000	0.07245	-1.754000	0.01816	-0.923000	0.03785	-1.074000	0.02243	TGC		0.622	SDSL-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404782.1	NM_138432		5	233	0	0	0	1	0	5	233					A	113875851	G	A	113875851	2	1	305	1	0	0	0	0	0	0	0	1	13976	1306	46	3		3	SDSL	12	113875851	Silent	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	341280	113875851	19976044	697	15214											
KSR2	283455	broad.mit.edu	37	chr12	118199031	118199031	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgcgcggcggggtgcggacCgcgtgccgctgccggggcga	2	4	22	13	9	0	0	0	0	0	0	0	2	0	1	3	6	4	1	3	6	0	0			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr12:118199031C>T	ENST00000339824.5	-	4	1498	c.771G>A	c.(769-771)gcG>gcA	p.A257A	KSR2_ENST00000425217.1_Silent_p.A228A			Q6VAB6	KSR2_HUMAN	kinase suppressor of ras 2	257	Pro-rich.				intracellular signal transduction (GO:0035556)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GGGTGCGGACCGCGTGCCGCT	0.736																																						ENST00000425217.1																			0				NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						c.(682-684)gcG>gcA		kinase suppressor of ras 2							33	43	40					12																	118199031		1833	4033	5866	SO:0001819	synonymous_variant	283455				intracellular signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity	g.chr12:118199031C>T	AY345972	CCDS61250.1	12q24.22-q24.23	2014-08-12			ENSG00000171435	ENSG00000171435			18610	protein-coding gene	gene with protein product		610737				12471243	Standard	NM_173598		Approved	FLJ25965	uc001two.2	Q6VAB6	OTTHUMG00000169020	ENST00000339824.5:c.771G>A	12.37:g.118199031C>T						KSR2_ENST00000339824.5_Silent_p.A257A	p.A228A	NM_173598.4	NP_775869.3	Q6VAB6	KSR2_HUMAN			4	738	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		257			Pro-rich.		A0PJT2|Q3B828|Q8N775	Silent	SNP	ENST00000339824.5	37	c.684G>A																																																																																					0.736	KSR2-001	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000401987.2	NM_173598		63	148	0	0	0	1	0	63	148					T	118199031	C	T	118199031	2	4	305	1	0	0	0	0	0	0	0	1	8582	639	23	2		2	KSR2	12	118199031	Silent	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	4323180	118199031	15652864	698	15215											
CIT	11113	broad.mit.edu	37	chr12	120156517	120156517	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cccctaccttcctcccgggcGgaccggagctcgatgcgggt	4	7	13	17	5	0	0	0	0	0	0	3	3	2	2	6	4	3	1	6	4	1	2			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr12:120156517G>A	ENST00000261833.7	-	30	3916	c.3864C>T	c.(3862-3864)tcC>tcT	p.S1288S	CIT_ENST00000537607.1_5'UTR|CIT_ENST00000392521.2_Silent_p.S1330S	NM_007174.2	NP_009105.1	O14578	CTRO_HUMAN	citron rho-interacting serine/threonine kinase	1288	Interaction with Rho/Rac.				cytokinesis (GO:0000910)|dendrite development (GO:0016358)|G2/M transition of mitotic cell cycle (GO:0000086)|generation of neurons (GO:0048699)|Golgi organization (GO:0007030)|intracellular signal transduction (GO:0035556)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic nuclear division (GO:0007067)|mitotic sister chromatid segregation (GO:0000070)|negative regulation of dendrite morphogenesis (GO:0050774)|regulation of actin polymerization or depolymerization (GO:0008064)|spermatogenesis (GO:0007283)	actin cytoskeleton (GO:0015629)|Golgi cisterna (GO:0031985)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|vacuole (GO:0005773)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|PDZ domain binding (GO:0030165)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	86	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)		BRCA - Breast invasive adenocarcinoma(302;0.211)		CCTCCCGGGCGGACCGGAGCT	0.552																																						ENST00000392521.2																			0				breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	86						c.(3988-3990)tcC>tcT		citron (rho-interacting, serine/threonine kinase 21)							103	103	103					12																	120156517		2203	4300	6503	SO:0001819	synonymous_variant	11113				intracellular signal transduction		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding|small GTPase regulator activity	g.chr12:120156517G>A	AB023166	CCDS9192.1, CCDS55891.1	12q24.23	2014-04-23	2014-04-23		ENSG00000122966	ENSG00000122966			1985	protein-coding gene	gene with protein product	"serine/threonine kinase 21"	605629	"citron (rho-interacting, serine/threonine kinase 21)"			9792683	Standard	NM_001206999		Approved	KIAA0949, STK21, CRIK	uc001txj.2	O14578	OTTHUMG00000134325	ENST00000261833.7:c.3864C>T	12.37:g.120156517G>A						CIT_ENST00000537607.1_5'UTR|CIT_ENST00000261833.7_Silent_p.S1288S	p.S1330S	NM_001206999.1	NP_001193928.1	O14578	CTRO_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.211)	31	4045	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)	1288					Q2M5E1|Q6XUH8|Q86UQ9|Q9UPZ7	Silent	SNP	ENST00000261833.7	37	c.3990C>T	CCDS9192.1	.	.	.	.	.	.	.	.	.	.	G	7.282	0.609252	0.14066	.	.	ENSG00000122966	ENST00000392520	.	.	.	5.74	-11.5	0.00074	.	.	.	.	.	T	0.45357	0.1338	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.58183	-0.7681	4	.	.	.	.	8.7587	0.34661	0.587:0.2573:0.0903:0.0653	.	.	.	.	L	901	.	.	P	-	2	0	CIT	118640900	0.000000	0.05858	0.068000	0.19968	0.986000	0.74619	-2.359000	0.01085	-2.658000	0.00420	-0.885000	0.02943	CCG		0.552	CIT-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000259410.4	NM_007174		5	149	0	0	0	1	0	5	149					A	120156517	G	A	120156517	2	1	305	1	0	0	0	0	0	0	0	1	3438	1103	39	2		2	CIT	12	120156517	Silent	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	1957486	120156517	13695378	699	15216											
WDR66	144406	broad.mit.edu	37	chr12	122359385	122359385	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggaggagaggaaaacgggCgaggaggaaggggaggagga	15	0	24	2	2	0	1	0	0	0	1	0	11	0	8	0	10	1	0	0	10	3	0	rs370060195		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr12:122359385C>T	ENST00000288912.4	+	2	1028	c.174C>T	c.(172-174)ggC>ggT	p.G58G	WDR66_ENST00000397454.2_Silent_p.G58G	NM_144668.5	NP_653269.3	Q8TBY9	WDR66_HUMAN	WD repeat domain 66	58	Glu-rich.						calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(13)|ovary(2)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	all_neural(191;0.0496)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000155)|Epithelial(86;0.000634)|BRCA - Breast invasive adenocarcinoma(302;0.248)		ggaaaacgggcgaggaggaag	0.463																																					Esophageal Squamous(85;849 1794 49757 52143)	ENST00000288912.4																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(13)|ovary(2)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						c.(172-174)ggC>ggT		WD repeat domain 66		T	,	0,3830		0,0,1915	44	45	45		174,174	-1.5	0	12		45	1,8231		0,1,4115	no	coding-synonymous,coding-synonymous	WDR66	NM_001178003.1,NM_144668.5	,	0,1,6030	TT,TC,CC		0.0121,0.0,0.0083	,	58/942,58/1150	122359385	1,12061	1915	4116	6031	SO:0001819	synonymous_variant	144406						calcium ion binding	g.chr12:122359385C>T	AL833930	CCDS41853.1, CCDS53840.1	12q24.31	2014-07-31			ENSG00000158023	ENSG00000158023		"WD repeat domain containing"	28506	protein-coding gene	gene with protein product						17967944	Standard	NM_001178003		Approved	MGC33630, CaM-IP4	uc009zxk.3	Q8TBY9	OTTHUMG00000168948	ENST00000288912.4:c.174C>T	12.37:g.122359385C>T						WDR66_ENST00000397454.2_Silent_p.G58G	p.G58G	NM_144668.5	NP_653269.3	Q8TBY9	WDR66_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000155)|Epithelial(86;0.000634)|BRCA - Breast invasive adenocarcinoma(302;0.248)	2	1028	+	all_neural(191;0.0496)|Medulloblastoma(191;0.0922)		58			Glu-rich.		C9J1W2|Q8IYA3|Q8N898|Q8NDE7	Silent	SNP	ENST00000288912.4	37	c.174C>T	CCDS41853.1																																																																																				0.463	WDR66-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401700.1	NM_144668		10	21	0	0	0	1	0	10	21					T	122359385	C	T	122359385	2	4	305	1	0	0	0	0	0	0	0	1	17314	755	27	1		1	WDR66	12	122359385	Silent	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	2202868	122359385	11492510	700	15217											
DNAH10	196385	broad.mit.edu	37	chr12	124317860	124317860	+	Frame_Shift_Del	DEL	A	A	-																															gcaaactgttcacaaatgggAaaaaacgctttctctaatag																										TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr12:124317860delA	ENST00000409039.3	+	26	4416	c.4391delA	c.(4390-4392)gaafs	p.E1464fs		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	1464	Stem. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		CACAAATGGGAAAAAACGCTT	0.413																																						ENST00000409039.3																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52						c.(4390-4392)gafs		dynein, axonemal, heavy chain 10							54	52	53					12																	124317860		1858	4102	5960	SO:0001589	frameshift_variant	196385				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr12:124317860delA	AJ132089	CCDS9255.2	12q24	2008-02-05	2006-09-04		ENSG00000197653	ENSG00000197653		"Axonemal dyneins"	2941	protein-coding gene	gene with protein product		605884	"dynein, axonemal, heavy polypeptide 10"				Standard	NM_207437		Approved	FLJ43808	uc001uft.4	Q8IVF4	OTTHUMG00000154477	ENST00000409039.3:c.4391delA	12.37:g.124317860delA	ENSP00000386770:p.Glu1464fs						p.E1464fs	NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)	26	4416	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		1464			Stem (By similarity).		C9JMF5|O95495|Q6ZUC9|Q6ZUP6|Q8N761	Frame_Shift_Del	DEL	ENST00000409039.3	37	c.4391delA	CCDS9255.2																																																																																				0.413	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335420.3			11	19						11	19	---	---	---	---	-	124317860	A	-	124317860	7	5	305	1	0	1	0	1	0	0	0	0	4598	246	9	0	4493	0	DNAH10	12	124317860	Frame_Shift_Del	DEL	A	TCGA-KK-A59V-01A-11D-A29Q-08	1958475	124317860	9534035	701	15218											
DNAH10	196385	broad.mit.edu	37	chr12	124416490	124416490	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gctcttgattctaaataggcCttggctggagaagttggaat	10	13	12	6	0	2	2	0	1	2	1	2	4	2	3	1	4	0	3	1	4	5	6	rs190188682		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr12:124416490C>A	ENST00000409039.3	+	75	12802	c.12777C>A	c.(12775-12777)gcC>gcA	p.A4259A	CCDC92_ENST00000544798.1_Intron|DNAH10_ENST00000538983.1_3'UTR|DNAH10OS_ENST00000514254.2_Intron	NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	4259					microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		CTAAATAGGCCTTGGCTGGAG	0.483																																						ENST00000409039.3																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52						c.(12775-12777)gcC>gcA		dynein, axonemal, heavy chain 10							89	91	91					12																	124416490		1937	4124	6061	SO:0001819	synonymous_variant	196385				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr12:124416490C>A	AJ132089	CCDS9255.2	12q24	2008-02-05	2006-09-04		ENSG00000197653	ENSG00000197653		"Axonemal dyneins"	2941	protein-coding gene	gene with protein product		605884	"dynein, axonemal, heavy polypeptide 10"				Standard	NM_207437		Approved	FLJ43808	uc001uft.4	Q8IVF4	OTTHUMG00000154477	ENST00000409039.3:c.12777C>A	12.37:g.124416490C>A						DNAH10OS_ENST00000514254.2_Intron|CCDC92_ENST00000544798.1_Intron|DNAH10_ENST00000538983.1_3'UTR	p.A4259A	NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)	75	12802	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		4259					C9JMF5|O95495|Q6ZUC9|Q6ZUP6|Q8N761	Silent	SNP	ENST00000409039.3	37	c.12777C>A	CCDS9255.2																																																																																				0.483	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335420.3			6	81	1	0	0.217242	1	0.217443	6	81					A	124416490	C	A	124416490	2	1	305	1	0	0	0	0	0	0	0	1	4598	668	24	5		5	DNAH10	12	124416490	Silent	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	98630	124416490	9435405	702	15219											
NCOR2	9612	broad.mit.edu	37	chr12	124824936	124824936	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccgctctcgatcccggtctcGctcccgctcggacgaggacg	4	7	12	18	8	2	0	0	0	2	0	7	4	4	2	3	3	0	3	3	3	0	0			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr12:124824936G>A	ENST00000405201.1	-	36	5392	c.5392C>T	c.(5392-5394)Cga>Tga	p.R1798*	NCOR2_ENST00000356219.3_Nonsense_Mutation_p.R1805*|NCOR2_ENST00000429285.2_Nonsense_Mutation_p.R1788*|NCOR2_ENST00000404621.1_Nonsense_Mutation_p.R1788*|NCOR2_ENST00000404121.2_Nonsense_Mutation_p.R1359*|NCOR2_ENST00000397355.1_Nonsense_Mutation_p.R1789*			Q9Y618	NCOR2_HUMAN	nuclear receptor corepressor 2	1806					cellular lipid metabolic process (GO:0044255)|gene expression (GO:0010467)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|regulation of cellular ketone metabolic process by negative regulation of transcription from RNA polymerase II promoter (GO:0072365)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	membrane (GO:0016020)|nuclear body (GO:0016604)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone deacetylase binding (GO:0042826)|Notch binding (GO:0005112)|protein N-terminus binding (GO:0047485)|transcription corepressor activity (GO:0003714)			breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		TCCCGGTCTCGCTCCCGCTCG	0.622																																						ENST00000356219.3																			0				breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						c.(5413-5415)Cga>Tga		nuclear receptor corepressor 2							63	74	70					12																	124824936		2093	4219	6312	SO:0001587	stop_gained	9612				cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity	g.chr12:124824936G>A	U37146	CCDS41857.1, CCDS41858.1, CCDS41857.2, CCDS41858.2, CCDS55892.1	12q24	2010-06-10	2010-06-10		ENSG00000196498	ENSG00000196498			7673	protein-coding gene	gene with protein product		600848	"nuclear receptor co-repressor 2"			7566127, 8813722	Standard	NM_001077261		Approved	SMRT, SMRTE, TRAC-1, CTG26, TNRC14	uc010tbb.2	Q9Y618	OTTHUMG00000150455	ENST00000405201.1:c.5392C>T	12.37:g.124824936G>A	ENSP00000384018:p.Arg1798*					NCOR2_ENST00000405201.1_Nonsense_Mutation_p.R1798*|NCOR2_ENST00000397355.1_Nonsense_Mutation_p.R1789*|NCOR2_ENST00000429285.2_Nonsense_Mutation_p.R1788*|NCOR2_ENST00000404621.1_Nonsense_Mutation_p.R1788*|NCOR2_ENST00000404121.2_Nonsense_Mutation_p.R1359*	p.R1805*	NM_006312.5	NP_006303.4	Q9Y618	NCOR2_HUMAN		Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)	37	5568	-	all_neural(191;0.0804)|Medulloblastoma(191;0.163)		1806					O00613|O15416|O15421|Q13354|Q56D06|Q59GM0|Q9Y5U0	Nonsense_Mutation	SNP	ENST00000405201.1	37	c.5413C>T	CCDS41858.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	44|44	10.735263|10.735263	0.99459|0.99459	.|.	.|.	ENSG00000196498|ENSG00000196498	ENST00000440187;ENST00000453428|ENST00000405201;ENST00000404621;ENST00000356219;ENST00000397355;ENST00000447011;ENST00000404121;ENST00000429285	.|.	.|.	.|.	3.77|3.77	3.77|3.77	0.43336|0.43336	.|.	.|0.000000	.|0.52532	.|U	.|0.000065	T|.	0.29817|.	0.0745|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.30995|.	-0.9959|.	3|.	.|0.07175	.|T	.|0.84	.|.	10.9419|10.9419	0.47278|0.47278	0.0:0.0:0.8123:0.1877|0.0:0.0:0.8123:0.1877	.|.	.|.	.|.	.|.	V|X	32;127|1798;1788;1805;1789;1797;1359;1788	.|.	.|ENSP00000348551:R1805X	A|R	-|-	2|1	0|2	NCOR2|NCOR2	123390889|123390889	0.982000|0.982000	0.34865|0.34865	0.954000|0.954000	0.39281|0.39281	0.081000|0.081000	0.17604|0.17604	1.783000|1.783000	0.38664|0.38664	1.649000|1.649000	0.50652|0.50652	0.491000|0.491000	0.48974|0.48974	GCG|CGA		0.622	NCOR2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318173.2	NM_006312		16	44	0	0	0	1	0	16	44					A	124824936	G	A	124824936	4	1	305	1	0	0	0	0	0	1	0	0	10236	1095	38	1	2200	1	NCOR2	12	124824936	Nonsense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	408446	124824936	9026959	703	15220											
TMEM132D	121256	broad.mit.edu	37	chr12	130184705	130184705	+	Frame_Shift_Del	DEL	G	G	-																															ctcctcccggcaaccaccgtGggggggctgaaccagctgga																								rs372463803		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr12:130184705delG	ENST00000422113.2	-	2	944	c.618delC	c.(616-618)cccfs	p.P206fs	RP11-174M13.2_ENST00000544036.1_lincRNA	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	206					negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		CAACCACCGTGGGGGGGCTGA	0.711																																						ENST00000422113.2																			0				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152						c.(616-618)ccfs		transmembrane protein 132D							20	23	22					12																	130184705		2200	4293	6493	SO:0001589	frameshift_variant	121256					integral to membrane		g.chr12:130184705delG	AB061814	CCDS9266.1	12q24.32-q24.33	2014-06-13			ENSG00000151952	ENSG00000151952			29411	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 153"	611257				11853319, 12966072	Standard	NM_133448		Approved	KIAA1944, MOLT, PPP1R153	uc009zyl.1	Q14C87	OTTHUMG00000168400	ENST00000422113.2:c.618delC	12.37:g.130184705delG	ENSP00000408581:p.Pro206fs						p.P206fs	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)	2	944	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)	206					Q14C96|Q76M59|Q8N1W9|Q8N3Q5|Q8TF57	Frame_Shift_Del	DEL	ENST00000422113.2	37	c.618delC	CCDS9266.1																																																																																				0.711	TMEM132D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399592.1	NM_133448		13	54						13	54	---	---	---	---	-	130184705	G	-	130184705	7	5	305	1	0	1	0	1	0	0	0	0	16044	1335	47	0	2713	0	TMEM132D	12	130184705	Frame_Shift_Del	DEL	G	TCGA-KK-A59V-01A-11D-A29Q-08	5359769	130184705	3667190	704	15221											
FZD10	11211	broad.mit.edu	37	chr12	130648819	130648819	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gagaagctcatggtgcgtatCgggctcttctctgtgctgta	6	13	13	9	2	3	1	1	0	2	1	5	2	3	1	0	2	3	5	0	2	3	3			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr12:130648819C>T	ENST00000229030.4	+	1	1816	c.1332C>T	c.(1330-1332)atC>atT	p.I444I	FZD10-AS1_ENST00000505807.2_RNA|FZD10_ENST00000539839.1_Missense_Mutation_p.R412W			Q9ULW2	FZD10_HUMAN	frizzled class receptor 10	444					brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|cellular response to retinoic acid (GO:0071300)|gonad development (GO:0008406)|negative regulation of Rho GTPase activity (GO:0034259)|neuron differentiation (GO:0030182)|non-canonical Wnt signaling pathway via JNK cascade (GO:0038031)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of Rac GTPase activity (GO:0032855)|regulation of actin cytoskeleton organization (GO:0032956)|vasculature development (GO:0001944)	cell projection (GO:0042995)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|pancreas(1)|prostate(3)|urinary_tract(1)	35	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.3e-06)|Epithelial(86;1.66e-05)|all cancers(50;5.18e-05)		TGGTGCGTATCGGGCTCTTCT	0.592																																						ENST00000539839.1																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|pancreas(1)|prostate(3)|urinary_tract(1)	35						c.(1234-1236)Cgg>Tgg		frizzled family receptor 10							172	163	166					12																	130648819		2203	4300	6503	SO:0001819	synonymous_variant	11211				brain development|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|embryo development|gonad development|negative regulation of Rho GTPase activity|neuron differentiation|non-canonical Wnt receptor signaling pathway|positive regulation of JUN kinase activity|positive regulation of Rac GTPase activity|regulation of actin cytoskeleton organization|vasculature development	cell projection|cell surface|cytoplasm|integral to plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding	g.chr12:130648819C>T	AB027464	CCDS9267.1	12q24.33	2014-01-29	2014-01-29			ENSG00000111432		"GPCR / Class F : Frizzled receptors", "CD molecules"	4039	protein-coding gene	gene with protein product		606147	"frizzled (Drosophila) homolog 10", "frizzled homolog 10 (Drosophila)", "frizzled 10, seven transmembrane spanning receptor", "frizzled family receptor 10"			10448064	Standard	NM_007197		Approved	CD350	uc001uii.3	Q9ULW2		ENST00000229030.4:c.1332C>T	12.37:g.130648819C>T						FZD10_ENST00000229030.4_Silent_p.I444I	p.R412W	NM_007197.3	NP_009128.1	Q9ULW2	FZD10_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;1.3e-06)|Epithelial(86;1.66e-05)|all cancers(50;5.18e-05)	1	1816	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		84						Missense_Mutation	SNP	ENST00000229030.4	37	c.1234C>T	CCDS9267.1	.	.	.	.	.	.	.	.	.	.	C	7.044	0.563182	0.13498	.	.	ENSG00000111432	ENST00000539839	.	.	.	5.1	2.16	0.27623	.	.	.	.	.	T	0.58793	0.2147	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.56300	-0.8002	5	0.87932	D	0	.	4.0408	0.09750	0.2968:0.4675:0.0:0.2357	.	.	.	.	W	412	.	ENSP00000438460:R412W	R	+	1	2	FZD10	129214772	0.023000	0.18921	0.997000	0.53966	0.574000	0.36063	-0.754000	0.04787	0.136000	0.18733	0.561000	0.74099	CGG		0.592	FZD10-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				11	42	0	0	0	1	0	11	42					T	130648819	C	T	130648819	2	4	305	1	0	0	0	0	0	0	0	1	6129	874	31	2		2	FZD10	12	130648819	Silent	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	464114	130648819	3203076	705	15222											
POLE	5426	broad.mit.edu	37	chr12	133254166	133254166	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caaccctgccccactcaccaCgtggatcttcaggtcaatgg	9	8	8	16	1	4	0	3	0	1	0	4	1	4	1	4	3	2	0	4	3	2	1	rs371882716	byFrequency	TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr12:133254166C>T	ENST00000320574.5	-	7	761	c.718G>A	c.(718-720)Gtg>Atg	p.V240M	POLE_ENST00000535270.1_Missense_Mutation_p.V213M	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit	240					base-excision repair, gap-filling (GO:0006287)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA synthesis involved in DNA repair (GO:0000731)|G1/S transition of mitotic cell cycle (GO:0000082)|in utero embryonic development (GO:0001701)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	cytoplasm (GO:0005737)|epsilon DNA polymerase complex (GO:0008622)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	4 iron, 4 sulfur cluster binding (GO:0051539)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|nucleotide binding (GO:0000166)|zinc ion binding (GO:0008270)			NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)	Cladribine(DB00242)	CCACTCACCACGTGGATCTTC	0.498								DNA polymerases (catalytic subunits)																														ENST00000320574.5																			0				NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89						c.(718-720)Gtg>Atg	DNA polymerases (catalytic subunits)	polymerase (DNA directed), epsilon, catalytic subunit		C	MET/VAL	0,4406		0,0,2203	114	93	100		718	5.8	1	12		100	2,8598	2.2+/-6.3	0,2,4298	no	missense	POLE	NM_006231.2	21	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	probably-damaging	240/2287	133254166	2,13004	2203	4300	6503	SO:0001583	missense	5426				base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding	g.chr12:133254166C>T		CCDS9278.1	12q24.3	2014-09-17	2012-05-18		ENSG00000177084	ENSG00000177084		"DNA polymerases"	9177	protein-coding gene	gene with protein product	"DNA polymerase epsilon catalytic subunit A"	174762	"polymerase (DNA directed), epsilon"			8020968	Standard	NM_006231		Approved	POLE1	uc001uks.1	Q07864	OTTHUMG00000168045	ENST00000320574.5:c.718G>A	12.37:g.133254166C>T	ENSP00000322570:p.Val240Met					POLE_ENST00000535270.1_Missense_Mutation_p.V213M	p.V240M	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)	7	761	-	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)	240					Q13533|Q86VH9	Missense_Mutation	SNP	ENST00000320574.5	37	c.718G>A	CCDS9278.1	.	.	.	.	.	.	.	.	.	.	C	28.2	4.899793	0.91962	0.0	2.33E-4	ENSG00000177084	ENST00000320574;ENST00000455752;ENST00000535270;ENST00000539006;ENST00000376577	T;T;T;T	0.11169	2.8;2.8;2.8;2.8	5.75	5.75	0.90469	DNA-directed DNA polymerase, family B, exonuclease domain (1);Ribonuclease H-like (1);	0.062950	0.64402	D	0.000005	T	0.39911	0.1096	M	0.83774	2.66	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.77004	0.942;0.989	T	0.23119	-1.0197	10	0.72032	D	0.01	.	19.9577	0.97228	0.0:1.0:0.0:0.0	.	213;240	F5H1D6;Q07864	.;DPOE1_HUMAN	M	240;251;213;20;175	ENSP00000322570:V240M;ENSP00000406383:V251M;ENSP00000445753:V213M;ENSP00000442519:V20M	ENSP00000322570:V240M	V	-	1	0	POLE	131764239	1.000000	0.71417	0.975000	0.42487	0.688000	0.40055	7.770000	0.85390	2.714000	0.92807	0.563000	0.77884	GTG		0.498	POLE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397689.2	NM_006231		14	33	0	0	0	1	0	14	33					T	133254166	C	T	133254166	3	4	305	1	0	0	0	0	1	0	0	0	12196	536	19	1	6314	1	POLE	12	133254166	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	2605347	133254166	597729	706	15223											
PXMP2	5827	broad.mit.edu	37	chr12	133266904	133266904	+	Frame_Shift_Del	DEL	A	A	-																															agatgattgagaagaagcggAaaaaagaaaactctagaagt																										TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr12:133266904delA	ENST00000317479.3	+	2	243	c.178delA	c.(178-180)aaafs	p.K61fs	POLE_ENST00000535270.1_5'Flank|POLE_ENST00000320574.5_5'Flank|PXMP2_ENST00000539093.1_5'UTR|PXMP2_ENST00000543589.1_Frame_Shift_Del_p.K61fs|PXMP2_ENST00000545677.1_5'UTR|RP13-672B3.2_ENST00000537262.1_5'UTR|PXMP2_ENST00000428960.2_5'UTR	NM_018663.1	NP_061133.1	Q9NR77	PXMP2_HUMAN	peroxisomal membrane protein 2, 22kDa	61						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisomal membrane (GO:0005778)|protein complex (GO:0043234)				large_intestine(1)|liver(2)|lung(1)	4	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.86e-08)|Epithelial(86;2.47e-07)|all cancers(50;6.85e-06)		GAAGAAGCGGAAAAAAGAAAA	0.512																																						ENST00000317479.3																			0				large_intestine(1)|liver(2)|lung(1)	4						c.(178-180)aafs		peroxisomal membrane protein 2, 22kDa							111	110	110					12																	133266904		2203	4300	6503	SO:0001589	frameshift_variant	5827					integral to membrane|peroxisomal membrane	protein binding	g.chr12:133266904delA		CCDS9279.1	12q24	2010-08-18	2002-08-29		ENSG00000176894	ENSG00000176894			9716	protein-coding gene	gene with protein product			"peroxisomal membrane protein 2 (22kD)"			11590176	Standard	NM_018663		Approved	PMP22	uc001ukt.3	Q9NR77	OTTHUMG00000168019	ENST00000317479.3:c.178delA	12.37:g.133266904delA	ENSP00000321271:p.Lys61fs					PXMP2_ENST00000539093.1_5'UTR|PXMP2_ENST00000543589.1_Frame_Shift_Del_p.K61fs|PXMP2_ENST00000545677.1_5'UTR|RP13-672B3.2_ENST00000537262.1_5'UTR|PXMP2_ENST00000428960.2_5'UTR	p.K61fs	NM_018663.1	NP_061133.1	Q9NR77	PXMP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;1.86e-08)|Epithelial(86;2.47e-07)|all cancers(50;6.85e-06)	2	243	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)		61						Frame_Shift_Del	DEL	ENST00000317479.3	37	c.178delA	CCDS9279.1																																																																																				0.512	PXMP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397553.1	NM_018663		7	119						7	119	---	---	---	---	-	133266904	A	-	133266904	7	5	305	1	0	1	0	1	0	0	0	0	12850	247	9	0	184	0	PXMP2	12	133266904	Frame_Shift_Del	DEL	A	TCGA-KK-A59V-01A-11D-A29Q-08	12738	133266904	584991	707	15224											
FGF9	2254	broad.mit.edu	37	chr13	22246272	22246272	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctgcaggactggatttcactTagaaatcttccccaatggta	11	12	8	10	0	2	1	1	0	1	1	3	3	3	3	2	3	1	2	2	3	4	4			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr13:22246272T>C	ENST00000382353.5	+	1	751	c.221T>C	c.(220-222)tTa>tCa	p.L74S		NM_002010.2	NP_002001.1	P31371	FGF9_HUMAN	fibroblast growth factor 9	74					angiogenesis (GO:0001525)|cell-cell signaling (GO:0007267)|chondrocyte differentiation (GO:0002062)|embryonic digestive tract development (GO:0048566)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal system development (GO:0048706)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inner ear morphogenesis (GO:0042472)|insulin receptor signaling pathway (GO:0008286)|lung-associated mesenchyme development (GO:0060484)|male gonad development (GO:0008584)|male sex determination (GO:0030238)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of Wnt signaling pathway (GO:0030178)|neurotrophin TRK receptor signaling pathway (GO:0048011)|osteoblast differentiation (GO:0001649)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of gene expression (GO:0010628)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein import into nucleus (GO:0006606)|regulation of timing of cell differentiation (GO:0048505)|signal transduction (GO:0007165)|substantia nigra development (GO:0021762)	basement membrane (GO:0005604)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	growth factor activity (GO:0008083)|heparin binding (GO:0008201)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|skin(2)	9		all_cancers(29;1.23e-20)|all_epithelial(30;9.83e-19)|all_lung(29;9.64e-17)|Lung SC(185;0.0262)|Breast(139;0.106)		all cancers(112;3.92e-05)|Epithelial(112;0.000166)|OV - Ovarian serous cystadenocarcinoma(117;0.00314)|Lung(94;0.163)		GGATTTCACTTAGAAATCTTC	0.507																																					Melanoma(195;1939 2127 12623 13963 52730)	ENST00000382353.5																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|skin(2)	9						c.(220-222)tTa>tCa		fibroblast growth factor 9							76	78	77					13																	22246272		2203	4300	6503	SO:0001583	missense	2254				cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|male gonad development|positive regulation of cell division	extracellular space	growth factor activity|heparin binding	g.chr13:22246272T>C	D14838	CCDS9298.1	13q11-q12	2014-01-30	2013-06-18		ENSG00000102678	ENSG00000102678		"Endogenous ligands"	3687	protein-coding gene	gene with protein product	"glia-activating factor"	600921	"fibroblast growth factor 9 (glia-activating factor)"			8321227	Standard	NM_002010		Approved		uc001uog.2	P31371	OTTHUMG00000017412	ENST00000382353.5:c.221T>C	13.37:g.22246272T>C	ENSP00000371790:p.Leu74Ser						p.L74S	NM_002010.2	NP_002001.1	P31371	FGF9_HUMAN		all cancers(112;3.92e-05)|Epithelial(112;0.000166)|OV - Ovarian serous cystadenocarcinoma(117;0.00314)|Lung(94;0.163)	1	751	+		all_cancers(29;1.23e-20)|all_epithelial(30;9.83e-19)|all_lung(29;9.64e-17)|Lung SC(185;0.0262)|Breast(139;0.106)	74					A8K427|Q3SY32	Missense_Mutation	SNP	ENST00000382353.5	37	c.221T>C	CCDS9298.1	.	.	.	.	.	.	.	.	.	.	T	18.09	3.546770	0.65198	.	.	ENSG00000102678	ENST00000382353	D	0.81821	-1.54	5.24	5.24	0.73138	.	0.105596	0.39210	N	0.001421	D	0.92932	0.7751	H	0.97103	3.94	0.58432	D	0.999995	D	0.58620	0.983	D	0.70227	0.968	D	0.95186	0.8304	10	0.87932	D	0	.	15.1951	0.73081	0.0:0.0:0.0:1.0	.	74	P31371	FGF9_HUMAN	S	74	ENSP00000371790:L74S	ENSP00000371790:L74S	L	+	2	0	FGF9	21144272	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.602000	0.82796	2.005000	0.58758	0.454000	0.30748	TTA		0.507	FGF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046002.2			40	56	0	0	0	1	0	40	56					C	22246272	T	C	22246272	3	2	305	1	0	0	0	0	1	0	0	0	5859	1764	61	4	223	4	FGF9	13	22246272	Missense_Mutation	SNP	T	TCGA-KK-A59V-01A-11D-A29Q-08		22246272	92923606	708	15225											
FGF9	2254	broad.mit.edu	37	chr13	22255282	22255282	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaagggggagctgtatggaTcagtaagtactggagggact	12	8	17	4	0	1	1	1	0	0	1	1	5	1	5	0	5	2	4	0	5	4	3			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr13:22255282T>A	ENST00000382353.5	+	2	909	c.379T>A	c.(379-381)Tca>Aca	p.S127T	FGF9_ENST00000478546.1_3'UTR	NM_002010.2	NP_002001.1	P31371	FGF9_HUMAN	fibroblast growth factor 9	127					angiogenesis (GO:0001525)|cell-cell signaling (GO:0007267)|chondrocyte differentiation (GO:0002062)|embryonic digestive tract development (GO:0048566)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal system development (GO:0048706)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inner ear morphogenesis (GO:0042472)|insulin receptor signaling pathway (GO:0008286)|lung-associated mesenchyme development (GO:0060484)|male gonad development (GO:0008584)|male sex determination (GO:0030238)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of Wnt signaling pathway (GO:0030178)|neurotrophin TRK receptor signaling pathway (GO:0048011)|osteoblast differentiation (GO:0001649)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of gene expression (GO:0010628)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein import into nucleus (GO:0006606)|regulation of timing of cell differentiation (GO:0048505)|signal transduction (GO:0007165)|substantia nigra development (GO:0021762)	basement membrane (GO:0005604)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	growth factor activity (GO:0008083)|heparin binding (GO:0008201)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|skin(2)	9		all_cancers(29;1.23e-20)|all_epithelial(30;9.83e-19)|all_lung(29;9.64e-17)|Lung SC(185;0.0262)|Breast(139;0.106)		all cancers(112;3.92e-05)|Epithelial(112;0.000166)|OV - Ovarian serous cystadenocarcinoma(117;0.00314)|Lung(94;0.163)		GCTGTATGGATCAGTAAGTAC	0.468																																					Melanoma(195;1939 2127 12623 13963 52730)	ENST00000382353.5																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|skin(2)	9						c.(379-381)Tca>Aca		fibroblast growth factor 9							121	110	114					13																	22255282		2203	4300	6503	SO:0001583	missense	2254				cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|male gonad development|positive regulation of cell division	extracellular space	growth factor activity|heparin binding	g.chr13:22255282T>A	D14838	CCDS9298.1	13q11-q12	2014-01-30	2013-06-18		ENSG00000102678	ENSG00000102678		"Endogenous ligands"	3687	protein-coding gene	gene with protein product	"glia-activating factor"	600921	"fibroblast growth factor 9 (glia-activating factor)"			8321227	Standard	NM_002010		Approved		uc001uog.2	P31371	OTTHUMG00000017412	ENST00000382353.5:c.379T>A	13.37:g.22255282T>A	ENSP00000371790:p.Ser127Thr					FGF9_ENST00000478546.1_3'UTR	p.S127T	NM_002010.2	NP_002001.1	P31371	FGF9_HUMAN		all cancers(112;3.92e-05)|Epithelial(112;0.000166)|OV - Ovarian serous cystadenocarcinoma(117;0.00314)|Lung(94;0.163)	2	909	+		all_cancers(29;1.23e-20)|all_epithelial(30;9.83e-19)|all_lung(29;9.64e-17)|Lung SC(185;0.0262)|Breast(139;0.106)	127					A8K427|Q3SY32	Missense_Mutation	SNP	ENST00000382353.5	37	c.379T>A	CCDS9298.1	.	.	.	.	.	.	.	.	.	.	T	18.01	3.528259	0.64860	.	.	ENSG00000102678	ENST00000382353	D	0.82344	-1.6	5.62	5.62	0.85841	.	0.212247	0.32703	N	0.005758	D	0.89712	0.6794	M	0.64404	1.975	0.54753	D	0.999987	D	0.89917	1.0	D	0.87578	0.998	D	0.90259	0.4299	10	0.59425	D	0.04	.	15.7922	0.78372	0.0:0.0:0.0:1.0	.	127	P31371	FGF9_HUMAN	T	127	ENSP00000371790:S127T	ENSP00000371790:S127T	S	+	1	0	FGF9	21153282	1.000000	0.71417	1.000000	0.80357	0.149000	0.21700	7.599000	0.82757	2.263000	0.75096	0.533000	0.62120	TCA		0.468	FGF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046002.2			12	39	0	0	0	1	0	12	39					A	22255282	T	A	22255282	3	1	305	1	0	0	0	0	1	0	0	0	5859	1435	50	5	385	5	FGF9	13	22255282	Missense_Mutation	SNP	T	TCGA-KK-A59V-01A-11D-A29Q-08	9010	22255282	92914596	709	15226											
SACS	26278	broad.mit.edu	37	chr13	23911843	23911843	+	Frame_Shift_Del	DEL	A	A	-																															atttggaaaaaacacttcagAaaaaaactgtttctctgaaa																										TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr13:23911843delA	ENST00000382292.3	-	9	6445	c.6172delT	c.(6172-6174)tctfs	p.S2058fs	SACS_ENST00000402364.1_Frame_Shift_Del_p.S1308fs|SACS_ENST00000382298.3_Frame_Shift_Del_p.S2058fs			Q9NZJ4	SACS_HUMAN	sacsin molecular chaperone	2058					cell death (GO:0008219)|negative regulation of inclusion body assembly (GO:0090084)|protein folding (GO:0006457)	axon (GO:0030424)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chaperone binding (GO:0051087)|Hsp70 protein binding (GO:0030544)|proteasome binding (GO:0070628)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		AACACTTCAGAAAAAAACTGT	0.333																																						ENST00000382298.3																			0				NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189	GRCh37	CD056852	SACS	D		c.(6172-6174)ctfs		spastic ataxia of Charlevoix-Saguenay (sacsin)							25	28	27					13																	23911843		2186	4294	6480	SO:0001589	frameshift_variant	26278				cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding	g.chr13:23911843delA	AF193556	CCDS9300.2	13q11	2014-06-13	2014-01-30		ENSG00000151835	ENSG00000151835		"Heat shock proteins / DNAJ (HSP40)"	10519	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 138"	604490	"spastic ataxia of Charlevoix-Saguenay (sacsin)"			10610707, 15057823, 21726565	Standard	NM_001278055		Approved	ARSACS, KIAA0730, DKFZp686B15167, DNAJC29, SPAX6, PPP1R138	uc001uon.3	Q9NZJ4	OTTHUMG00000016562	ENST00000382292.3:c.6172delT	13.37:g.23911843delA	ENSP00000371729:p.Ser2058fs					SACS_ENST00000382292.3_Frame_Shift_Del_p.S2058fs|SACS_ENST00000402364.1_Frame_Shift_Del_p.S1308fs	p.S2058fs	NM_014363.4	NP_055178.3	Q9NZJ4	SACS_HUMAN		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)	10	6760	-		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)	2058					O94835|Q5T9J5|Q5T9J7|Q5T9J8|Q68DF5|Q6MZR4|Q8NBF9	Frame_Shift_Del	DEL	ENST00000382292.3	37	c.6172delT	CCDS9300.2																																																																																				0.333	SACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044148.3	NM_014363		18	31						18	31	---	---	---	---	-	23911843	A	-	23911843	7	5	305	1	0	1	0	1	0	0	0	0	13804	246	9	0	7571	0	SACS	13	23911843	Frame_Shift_Del	DEL	A	TCGA-KK-A59V-01A-11D-A29Q-08	1656561	23911843	91258035	710	15227											
PARP4	143	broad.mit.edu	37	chr13	25029157	25029157	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggccaaagcgcactcacctGtgccgaactggataatattt	11	9	10	11	2	1	0	1	0	0	0	1	2	1	1	3	2	3	1	3	2	4	3			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr13:25029157G>A	ENST00000381989.3	-	22	2861	c.2756C>T	c.(2755-2757)aCa>aTa	p.T919I	PARP4_ENST00000480576.1_5'Flank	NM_006437.3	NP_006428.2	Q9UKK3	PARP4_HUMAN	poly (ADP-ribose) polymerase family, member 4	919	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell death (GO:0008219)|cellular protein modification process (GO:0006464)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|inflammatory response (GO:0006954)|protein ADP-ribosylation (GO:0006471)|response to drug (GO:0042493)|transport (GO:0006810)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|spindle microtubule (GO:0005876)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|NAD+ ADP-ribosyltransferase activity (GO:0003950)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(18)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63		all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052)		all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195)		GCACTCACCTGTGCCGAACTG	0.532																																						ENST00000381989.3																			0				autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(18)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63						c.(2755-2757)aCa>aTa		poly (ADP-ribose) polymerase family, member 4							215	184	195					13																	25029157		2203	4300	6503	SO:0001583	missense	143				cell death|DNA repair|inflammatory response|protein ADP-ribosylation|response to drug|transport	cytoplasm|nucleus|ribonucleoprotein complex|spindle microtubule	DNA binding|enzyme binding|NAD+ ADP-ribosyltransferase activity	g.chr13:25029157G>A	AF057160	CCDS9307.1	13q11	2010-09-29	2004-08-20	2004-08-26	ENSG00000102699	ENSG00000102699		"Poly (ADP-ribose) polymerases"	271	protein-coding gene	gene with protein product	"von Willebrand factor A domain containing 5C"	607519	"ADP-ribosyltransferase (NAD+; poly (ADP-ribose) polymerase)-like 1"	ADPRTL1		10644454	Standard	NM_006437		Approved	VAULT3, p193, VPARP, VWA5C	uc001upl.3	Q9UKK3	OTTHUMG00000016582	ENST00000381989.3:c.2756C>T	13.37:g.25029157G>A	ENSP00000371419:p.Thr919Ile						p.T919I	NM_006437.3	NP_006428.2	Q9UKK3	PARP4_HUMAN		all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195)	22	2861	-		all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052)	919			VWFA.		O75903|Q14682|Q5QNZ9|Q9H1M6	Missense_Mutation	SNP	ENST00000381989.3	37	c.2756C>T	CCDS9307.1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.329946	0.81690	.	.	ENSG00000102699	ENST00000381989	T	0.24538	1.85	4.72	4.72	0.59763	von Willebrand factor, type A (3);	0.109382	0.64402	D	0.000008	T	0.52693	0.1750	M	0.83692	2.655	0.49798	D	0.999826	D	0.63046	0.992	D	0.65443	0.935	T	0.59925	-0.7362	10	0.87932	D	0	-3.8998	15.2852	0.73822	0.0:0.0:1.0:0.0	.	919	Q9UKK3	PARP4_HUMAN	I	919	ENSP00000371419:T919I	ENSP00000371419:T919I	T	-	2	0	PARP4	23927157	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	7.364000	0.79526	2.481000	0.83766	0.573000	0.79308	ACA		0.532	PARP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044189.1	NM_006437		44	97	0	0	0	1	0	44	97					A	25029157	G	A	25029157	3	1	305	1	0	0	0	0	1	0	0	0	11463	1377	48	3	2470	3	PARP4	13	25029157	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	1117314	25029157	90140721	711	15228											
USPL1	10208	broad.mit.edu	37	chr13	31227350	31227350	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gaatgacttgcagcactatgCatttcattttgaaggctgtc	10	14	9	8	0	1	2	1	2	0	0	2	3	1	2	0	1	3	4	0	1	3	5			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr13:31227350C>T	ENST00000255304.4	+	8	1646	c.1304C>T	c.(1303-1305)gCa>gTa	p.A435V		NM_005800.4	NP_005791.3	Q5W0Q7	USPL1_HUMAN	ubiquitin specific peptidase like 1	435	SUMO-binding.|USP.				Cajal body organization (GO:0030576)|cell proliferation (GO:0008283)|protein desumoylation (GO:0016926)	Cajal body (GO:0015030)|extracellular space (GO:0005615)	SUMO binding (GO:0032183)|SUMO-specific isopeptidase activity (GO:0070140)			breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(15)|pancreas(3)|skin(3)	34		Lung SC(185;0.0257)|Breast(139;0.203)		all cancers(112;0.0306)|Epithelial(112;0.131)|OV - Ovarian serous cystadenocarcinoma(117;0.134)		CAGCACTATGCATTTCATTTT	0.348																																					Ovarian(60;318 1180 1554 28110 31601)	ENST00000255304.4																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(15)|pancreas(3)|skin(3)	34						c.(1303-1305)gCa>gTa		ubiquitin specific peptidase like 1							184	180	181					13																	31227350		2203	4300	6503	SO:0001583	missense	10208				ubiquitin-dependent protein catabolic process		ubiquitin thiolesterase activity	g.chr13:31227350C>T	X59131	CCDS9336.1	13q12-q14	2012-11-14	2005-11-24	2005-11-24	ENSG00000132952	ENSG00000132952			20294	protein-coding gene	gene with protein product			"chromosome 13 open reading frame 22"	C13orf22		22878415	Standard	NM_005800		Approved	bA121O19.1, D13S106E	uc001utc.2	Q5W0Q7	OTTHUMG00000016675	ENST00000255304.4:c.1304C>T	13.37:g.31227350C>T	ENSP00000255304:p.Ala435Val						p.A435V	NM_005800.4	NP_005791.3	Q5W0Q7	USPL1_HUMAN		all cancers(112;0.0306)|Epithelial(112;0.131)|OV - Ovarian serous cystadenocarcinoma(117;0.134)	8	1646	+		Lung SC(185;0.0257)|Breast(139;0.203)	435					Q14109|Q6AI45|Q8IY30|Q8IYE8	Missense_Mutation	SNP	ENST00000255304.4	37	c.1304C>T	CCDS9336.1	.	.	.	.	.	.	.	.	.	.	C	7.769	0.707076	0.15239	.	.	ENSG00000132952	ENST00000255304	T	0.44482	0.92	5.46	1.75	0.24633	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (1);	0.852515	0.10796	N	0.633215	T	0.31888	0.0811	L	0.36672	1.1	0.09310	N	1	B	0.09022	0.002	B	0.08055	0.003	T	0.28681	-1.0036	10	0.72032	D	0.01	-0.6549	7.1805	0.25770	0.1204:0.6832:0.0:0.1964	.	435	Q5W0Q7	USPL1_HUMAN	V	435	ENSP00000255304:A435V	ENSP00000255304:A435V	A	+	2	0	USPL1	30125350	0.002000	0.14202	0.000000	0.03702	0.005000	0.04900	1.645000	0.37238	0.075000	0.16796	0.655000	0.94253	GCA		0.348	USPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044369.1	NM_005800		26	86	0	0	0	1	0	26	86					T	31227350	C	T	31227350	3	4	305	1	0	0	0	0	1	0	0	0	17089	710	25	3	1330	3	USPL1	13	31227350	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	6198193	31227350	83942528	712	15229											
BRCA2	675	broad.mit.edu	37	chr13	32914549	32914549	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aaagtattgtttaaaagtaaCgaacattcagaccagctcac	17	10	6	8	1	2	1	2	0	0	1	2	2	2	1	1	0	3	4	1	0	6	6	rs147961615	byFrequency	TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr13:32914549C>T	ENST00000380152.3	+	11	6290	c.6057C>T	c.(6055-6057)aaC>aaT	p.N2019N	BRCA2_ENST00000544455.1_Silent_p.N2019N			P51587	BRCA2_HUMAN	breast cancer 2, early onset	2019					brain development (GO:0007420)|cell aging (GO:0007569)|centrosome duplication (GO:0051298)|cytokinesis (GO:0000910)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|female gonad development (GO:0008585)|hemopoiesis (GO:0030097)|histone H3 acetylation (GO:0043966)|histone H4 acetylation (GO:0043967)|inner cell mass cell proliferation (GO:0001833)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|male meiosis I (GO:0007141)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|nucleotide-excision repair (GO:0006289)|oocyte maturation (GO:0001556)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cytokinesis (GO:0032465)|replication fork protection (GO:0048478)|response to gamma radiation (GO:0010332)|response to UV-C (GO:0010225)|response to X-ray (GO:0010165)|spermatogenesis (GO:0007283)	BRCA2-MAGE-D1 complex (GO:0033593)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)|secretory granule (GO:0030141)	gamma-tubulin binding (GO:0043015)|H3 histone acetyltransferase activity (GO:0010484)|H4 histone acetyltransferase activity (GO:0010485)|protease binding (GO:0002020)|single-stranded DNA binding (GO:0003697)			NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		TTAAAAGTAACGAACATTCAG	0.338			"D, Mis, N, F, S"		"breast, ovarian, pancreatic"	"breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)			C|||	12	0.00239617	0.0091	0	5008	,	,		20523	0		0	False		,,,				2504	0				Esophageal Squamous(138;838 1285 7957 30353 30468 36915 49332)	ENST00000544455.1			yes	Rec	yes	Hereditary breast/ovarian cancer	13	13q12	675	"D, Mis, N, F, S"	familial breast/ovarian cancer gene 2			"L, E"		"breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"	"breast, ovarian, pancreatic"		0				NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183						c.(6055-6057)aaC>aaT	Homologous recombination	breast cancer 2, early onset		C		19,4387	26.2+/-53.5	0,19,2184	57	59	59		6057	0.2	0	13	dbSNP_134	59	0,8596		0,0,4298	no	coding-synonymous	BRCA2	NM_000059.3		0,19,6482	TT,TC,CC		0.0,0.4312,0.1461		2019/3419	32914549	19,12983	2203	4298	6501	SO:0001819	synonymous_variant	675	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	Familial Cancer Database	incl.: Hereditary Pancreatic Adenocarcinoma, Insulin-Dependent Diabetes Mellitus - Exocrine Insufficiency - Familial Pancreatic Cancer, PNCA1;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;HPC; ;FANCD1;Pancytopenia Dysmelia, FA (several complementation groups)	cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding	g.chr13:32914549C>T	U43746	CCDS9344.1	13q12-q13	2014-09-17	2003-10-14		ENSG00000139618	ENSG00000139618		"Fanconi anemia, complementation groups"	1101	protein-coding gene	gene with protein product	"BRCA1/BRCA2-containing complex, subunit 2"	600185	"Fanconi anemia, complementation group D1"	FANCD1, FACD, FANCD		8091231, 7581463, 15057823	Standard	NM_000059		Approved	FAD, FAD1, BRCC2	uc001uub.1	P51587	OTTHUMG00000017411	ENST00000380152.3:c.6057C>T	13.37:g.32914549C>T		TCGA Ovarian(8;0.087)				BRCA2_ENST00000380152.3_Silent_p.N2019N	p.N2019N	NM_000059.3	NP_000050.2	P51587	BRCA2_HUMAN		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)	11	6284	+		Lung SC(185;0.0262)	2019					O00183|O15008|Q13879|Q5TBJ7	Silent	SNP	ENST00000380152.3	37	c.6057C>T	CCDS9344.1																																																																																				0.338	BRCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046000.2	NM_000059		4	87	0	0	0	1	0	4	87					T	32914549	C	T	32914549	2	4	305	1	0	0	0	0	0	0	0	1	1499	535	19	1		1	BRCA2	13	32914549	Silent	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	1687199	32914549	82255329	713	15230											
KBTBD7	84078	broad.mit.edu	37	chr13	41767598	41767598	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttcagtgaagtgcatccagcGcacgcacttgaagacttctg	10	10	10	11	2	2	3	1	2	1	1	3	3	3	3	1	0	2	3	1	0	2	3			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr13:41767598G>A	ENST00000379483.3	-	1	1104	c.796C>T	c.(796-798)Cgc>Tgc	p.R266C		NM_032138.4	NP_115514.2	Q8WVZ9	KBTB7_HUMAN	kelch repeat and BTB (POZ) domain containing 7	266										central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(8)|ovary(4)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24		Lung NSC(96;0.000105)|Breast(139;0.00715)|Prostate(109;0.0233)|Lung SC(185;0.0367)		all cancers(112;6.21e-09)|Epithelial(112;6.99e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000196)|GBM - Glioblastoma multiforme(144;0.000857)|BRCA - Breast invasive adenocarcinoma(63;0.0669)		TGCATCCAGCGCACGCACTTG	0.552																																						ENST00000379483.3																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(8)|ovary(4)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24						c.(796-798)Cgc>Tgc		kelch repeat and BTB (POZ) domain containing 7							57	59	58					13																	41767598		2203	4298	6501	SO:0001583	missense	84078						protein binding	g.chr13:41767598G>A	AL136782	CCDS9377.1	13q13.3	2013-01-08			ENSG00000120696	ENSG00000120696		"BTB/POZ domain containing"	25266	protein-coding gene	gene with protein product						11230166	Standard	NM_032138		Approved	DKFZP434E2318	uc001uxw.1	Q8WVZ9	OTTHUMG00000016789	ENST00000379483.3:c.796C>T	13.37:g.41767598G>A	ENSP00000368797:p.Arg266Cys						p.R266C	NM_032138.4	NP_115514.2	Q8WVZ9	KBTB7_HUMAN		all cancers(112;6.21e-09)|Epithelial(112;6.99e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000196)|GBM - Glioblastoma multiforme(144;0.000857)|BRCA - Breast invasive adenocarcinoma(63;0.0669)	1	1104	-		Lung NSC(96;0.000105)|Breast(139;0.00715)|Prostate(109;0.0233)|Lung SC(185;0.0367)	266					B5TZ86|Q5T6Y7|Q8NB99|Q9H0I6	Missense_Mutation	SNP	ENST00000379483.3	37	c.796C>T	CCDS9377.1	.	.	.	.	.	.	.	.	.	.	G	17.15	3.317324	0.60524	.	.	ENSG00000120696	ENST00000379483;ENST00000501885	T	0.81163	-1.46	4.98	4.98	0.66077	BTB/Kelch-associated (2);	0.000000	0.85682	D	0.000000	D	0.90407	0.6997	M	0.85197	2.74	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.92052	0.5649	10	0.87932	D	0	.	15.7543	0.78013	0.0:0.0:1.0:0.0	.	266	Q8WVZ9	KBTB7_HUMAN	C	266;168	ENSP00000368797:R266C	ENSP00000368797:R266C	R	-	1	0	KBTBD7	40665598	1.000000	0.71417	1.000000	0.80357	0.686000	0.39977	7.046000	0.76592	2.287000	0.76781	0.557000	0.71058	CGC		0.552	KBTBD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044660.1	NM_032138		10	95	0	0	0	1	0	10	95					A	41767598	G	A	41767598	3	1	305	1	0	0	0	0	1	0	0	0	7998	1087	38	1	1262	1	KBTBD7	13	41767598	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	8853049	41767598	73402280	714	15231											
KIAA0564	23078	broad.mit.edu	37	chr13	42273243	42273243	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accacttgacctttgagaggActtcccagcggtgccactgt	8	10	10	13	1	0	2	0	2	0	1	1	4	1	3	4	2	2	0	4	2	0	3			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr13:42273243A>G	ENST00000379310.3	-	29	3596	c.3528T>C	c.(3526-3528)agT>agC	p.S1176S	VWA8_ENST00000478987.1_5'Flank	NM_015058.1	NP_055873.1	A3KMH1	VWA8_HUMAN	von Willebrand factor A domain containing 8	1176						extracellular region (GO:0005576)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)										CTTTGAGAGGACTTCCCAGCG	0.463																																						ENST00000379310.3																			0											c.(3526-3528)agT>agC		von Willebrand factor A domain containing 8							110	110	110					13																	42273243		1960	4149	6109	SO:0001819	synonymous_variant	23078							g.chr13:42273243A>G	AB011136	CCDS31963.1, CCDS41881.1	13q14.11	2013-11-18	2012-08-02	2012-08-02	ENSG00000102763	ENSG00000102763			29071	protein-coding gene	gene with protein product			"KIAA0564"	KIAA0564		9628581	Standard	NM_015058		Approved		uc001uyj.3	A3KMH1	OTTHUMG00000016799	ENST00000379310.3:c.3528T>C	13.37:g.42273243A>G							p.S1176S	NM_015058.1	NP_055873.1					29	3596	-								O60310|Q5JTP6|Q5VW08|Q7Z6I9|Q86YC9|Q8N3E4	Silent	SNP	ENST00000379310.3	37	c.3528T>C	CCDS41881.1																																																																																				0.463	VWA8-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354828.2	NM_015058		5	124	0	0	0	1	0	5	124					G	42273243	A	G	42273243	2	3	305	1	0	0	0	0	0	0	0	1	8185	272	10	4		4	KIAA0564	13	42273243	Silent	SNP	A	TCGA-KK-A59V-01A-11D-A29Q-08	505645	42273243	72896635	715	15232											
TNFSF11	8600	broad.mit.edu	37	chr13	43180811	43180811	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctagctacagagtatcttcaActaatggtgtacgtcactaa	13	12	7	9	1	3	1	2	0	1	1	3	1	3	1	0	1	4	3	0	1	7	7			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr13:43180811A>T	ENST00000239849.6	+	5	862	c.711A>T	c.(709-711)caA>caT	p.Q237H	TNFSF11_ENST00000358545.2_Missense_Mutation_p.Q164H|TNFSF11_ENST00000405262.2_Missense_Mutation_p.Q164H|TNFSF11_ENST00000544862.1_Missense_Mutation_p.Q164H|TNFSF11_ENST00000398795.2_Missense_Mutation_p.Q164H			O14788	TNF11_HUMAN	tumor necrosis factor (ligand) superfamily, member 11	237					activation of JUN kinase activity (GO:0007257)|bone resorption (GO:0045453)|calcium ion homeostasis (GO:0055074)|cytokine-mediated signaling pathway (GO:0019221)|ERK1 and ERK2 cascade (GO:0070371)|immune response (GO:0006955)|mammary gland alveolus development (GO:0060749)|mammary gland epithelial cell proliferation (GO:0033598)|monocyte chemotaxis (GO:0002548)|organ morphogenesis (GO:0009887)|ossification (GO:0001503)|osteoclast differentiation (GO:0030316)|osteoclast proliferation (GO:0002158)|positive regulation of bone resorption (GO:0045780)|positive regulation of corticotropin-releasing hormone secretion (GO:0051466)|positive regulation of ERK1 and ERK2 cascade via TNFSF11-mediated signaling (GO:0071848)|positive regulation of fever generation by positive regulation of prostaglandin secretion (GO:0071812)|positive regulation of homotypic cell-cell adhesion (GO:0034112)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of JNK cascade (GO:0046330)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of osteoclast development (GO:2001206)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of T cell activation (GO:0050870)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein homooligomerization (GO:0051260)|TNFSF11-mediated signaling pathway (GO:0071847)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)	cytokine activity (GO:0005125)|tumor necrosis factor receptor binding (GO:0005164)|tumor necrosis factor receptor superfamily binding (GO:0032813)			kidney(1)|large_intestine(4)|lung(3)|prostate(1)|urinary_tract(1)	10		Lung NSC(96;1.11e-05)|Breast(139;0.00868)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;0.000249)|GBM - Glioblastoma multiforme(144;0.00119)|BRCA - Breast invasive adenocarcinoma(63;0.073)	Denosumab(DB06643)|Lenalidomide(DB00480)	AGTATCTTCAACTAATGGTGT	0.398																																						ENST00000398795.2																			0				kidney(1)|large_intestine(4)|lung(3)|prostate(1)|urinary_tract(1)	10						c.(490-492)caA>caT		tumor necrosis factor (ligand) superfamily, member 11							150	134	139					13																	43180811		2203	4300	6503	SO:0001583	missense	0				immune response|monocyte chemotaxis|osteoclast differentiation|positive regulation of bone resorption|positive regulation of corticotropin-releasing hormone secretion|positive regulation of ERK1 and ERK2 cascade via TNFSF11-mediated signaling|positive regulation of fever generation by positive regulation of prostaglandin secretion|positive regulation of homotypic cell-cell adhesion|positive regulation of NF-kappaB transcription factor activity|positive regulation of osteoclast differentiation|positive regulation of T cell activation	cytoplasm|extracellular space|integral to plasma membrane	cytokine activity|receptor activity|tumor necrosis factor receptor binding	g.chr13:43180811A>T	AF013171	CCDS9384.1, CCDS9385.1	13q14	2008-02-05			ENSG00000120659	ENSG00000120659		"Tumor necrosis factor (ligand) superfamily", "CD molecules"	11926	protein-coding gene	gene with protein product		602642				9312132, 9367155	Standard	NM_003701		Approved	TRANCE, RANKL, OPGL, ODF, CD254	uc001uyu.2	O14788	OTTHUMG00000016807	ENST00000239849.6:c.711A>T	13.37:g.43180811A>T	ENSP00000239849:p.Gln237His					TNFSF11_ENST00000544862.1_Missense_Mutation_p.Q164H|TNFSF11_ENST00000358545.2_Missense_Mutation_p.Q164H|TNFSF11_ENST00000239849.6_Missense_Mutation_p.Q237H|TNFSF11_ENST00000405262.2_Missense_Mutation_p.Q164H	p.Q164H	NM_003701.3	NP_003692.1	O14788	TNF11_HUMAN		OV - Ovarian serous cystadenocarcinoma(117;0.000249)|GBM - Glioblastoma multiforme(144;0.00119)|BRCA - Breast invasive adenocarcinoma(63;0.073)	5	860	+		Lung NSC(96;1.11e-05)|Breast(139;0.00868)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)	237					O14723|Q96Q17|Q9P2Q3	Missense_Mutation	SNP	ENST00000239849.6	37	c.492A>T	CCDS9384.1	.	.	.	.	.	.	.	.	.	.	A	14.55	2.568421	0.45798	.	.	ENSG00000120659	ENST00000358545;ENST00000405262;ENST00000239849;ENST00000398795;ENST00000544862	D;D;D;D;D	0.94576	-3.46;-3.46;-3.46;-3.46;-3.46	6.04	3.41	0.39046	Tumour necrosis factor (3);Tumour necrosis factor-like (2);	0.057465	0.64402	D	0.000001	D	0.96106	0.8731	M	0.80616	2.505	0.50171	D	0.999854	D	0.89917	1.0	D	0.85130	0.997	D	0.93552	0.6887	10	0.14252	T	0.57	-26.4153	9.1908	0.37197	0.2722:0.0:0.7278:0.0	.	237	O14788	TNF11_HUMAN	H	164;164;237;164;164	ENSP00000351347:Q164H;ENSP00000384042:Q164H;ENSP00000239849:Q237H;ENSP00000381775:Q164H;ENSP00000444913:Q164H	ENSP00000239849:Q237H	Q	+	3	2	TNFSF11	42078811	1.000000	0.71417	1.000000	0.80357	0.717000	0.41224	2.034000	0.41145	0.459000	0.27016	-0.230000	0.12252	CAA		0.398	TNFSF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044702.2			43	95	0	0	0	1	0	43	95					T	43180811	A	T	43180811	3	4	305	1	0	0	0	0	1	0	0	0	16299	40	2	5	729	5	TNFSF11	13	43180811	Missense_Mutation	SNP	A	TCGA-KK-A59V-01A-11D-A29Q-08	907568	43180811	71989067	716	15233											
CPB2	1361	broad.mit.edu	37	chr13	46629960	46629960	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	actaattttctcaatagcacGaactgcttcactggctacta	12	13	5	11	1	2	0	2	0	1	0	3	1	2	0	0	1	4	3	0	1	6	7			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr13:46629960G>A	ENST00000181383.4	-	10	1040	c.1024C>T	c.(1024-1026)Cgt>Tgt	p.R342C	CPB2-AS1_ENST00000606351.1_RNA|CPB2-AS1_ENST00000606991.1_RNA|CPB2_ENST00000439329.3_Missense_Mutation_p.R305C|CPB2-AS1_ENST00000415033.2_RNA|CPB2-AS1_ENST00000606243.1_RNA	NM_001872.3	NP_001863.3	Q96IY4	CBPB2_HUMAN	carboxypeptidase B2 (plasma)	342					blood coagulation (GO:0007596)|cellular response to glucose stimulus (GO:0071333)|fibrinolysis (GO:0042730)|liver regeneration (GO:0097421)|negative regulation of fibrinolysis (GO:0051918)|negative regulation of hepatocyte proliferation (GO:2000346)|negative regulation of plasminogen activation (GO:0010757)|positive regulation of extracellular matrix constituent secretion (GO:0003331)|proteolysis (GO:0006508)|response to drug (GO:0042493)|response to heat (GO:0009408)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			NS(1)|cervix(1)|large_intestine(3)|liver(1)|lung(9)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21		Lung NSC(96;4.21e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)|all_neural(104;0.235)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;5.44e-05)		TCAATAGCACGAACTGCTTCA	0.343																																						ENST00000181383.4																			0				NS(1)|cervix(1)|large_intestine(3)|liver(1)|lung(9)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21						c.(1024-1026)Cgt>Tgt		carboxypeptidase B2 (plasma)							92	92	92					13																	46629960		2203	4299	6502	SO:0001583	missense	1361				blood coagulation|fibrinolysis|proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding	g.chr13:46629960G>A	M75106	CCDS9401.1, CCDS73568.1	13q14.11	2012-02-10	2007-02-21		ENSG00000080618	ENSG00000080618			2300	protein-coding gene	gene with protein product	"thrombin-activatable fibrinolysis inhibitor", "carboxypeptidase U", "plasma carboxypeptidase B", "carboxypeptidase R"	603101	"carboxypeptidase B2 (plasma, carboxypeptidase U)"			1939207, 1427879	Standard	NM_001278541		Approved	CPU, PCPB, TAFI	uc001vaw.3	Q96IY4	OTTHUMG00000016867	ENST00000181383.4:c.1024C>T	13.37:g.46629960G>A	ENSP00000181383:p.Arg342Cys					CPB2-AS1_ENST00000606991.1_RNA|CPB2_ENST00000439329.3_Missense_Mutation_p.R305C|CPB2-AS1_ENST00000415033.2_RNA|CPB2-AS1_ENST00000606243.1_RNA|CPB2-AS1_ENST00000606351.1_RNA	p.R342C	NM_001872.3	NP_001863.3	Q96IY4	CBPB2_HUMAN	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;5.44e-05)	10	1040	-		Lung NSC(96;4.21e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)|all_neural(104;0.235)	342					A8K464|Q15114|Q5T9K1|Q5T9K2|Q9P2Y6	Missense_Mutation	SNP	ENST00000181383.4	37	c.1024C>T	CCDS9401.1	.	.	.	.	.	.	.	.	.	.	G	17.32	3.359635	0.61403	.	.	ENSG00000080618	ENST00000181383;ENST00000439329	T;T	0.31769	1.48;2.78	5.44	1.41	0.22369	Peptidase M14, carboxypeptidase A (2);	0.917807	0.09507	N	0.792868	T	0.34629	0.0904	L	0.46157	1.445	0.31526	N	0.661749	D;D	0.76494	0.998;0.999	P;P	0.54346	0.711;0.749	T	0.44742	-0.9308	10	0.66056	D	0.02	.	3.0528	0.06174	0.1633:0.2754:0.4448:0.1165	.	305;342	Q96IY4-2;Q96IY4	.;CBPB2_HUMAN	C	342;305	ENSP00000181383:R342C;ENSP00000400714:R305C	ENSP00000181383:R342C	R	-	1	0	CPB2	45527961	0.001000	0.12720	0.648000	0.29521	0.880000	0.50808	0.126000	0.15769	0.679000	0.31345	0.561000	0.74099	CGT		0.343	CPB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044803.2	NM_001872		18	54	0	0	0	1	0	18	54					A	46629960	G	A	46629960	3	1	305	1	0	0	0	0	1	0	0	0	3797	1058	37	2	255	2	CPB2	13	46629960	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	3449149	46629960	68539918	717	15234											
RB1	5925	broad.mit.edu	37	chr13	48947629	48947629	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atctgatttcctattttaacGtaagccatatatgaaacatt	14	16	4	7	1	1	2	0	2	1	0	2	2	2	2	2	0	3	1	2	0	6	8			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr13:48947629G>A	ENST00000267163.4	+	12	1353		c.e12+1			NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1						androgen receptor signaling pathway (GO:0030521)|cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|cell morphogenesis involved in neuron differentiation (GO:0048667)|chromatin remodeling (GO:0006338)|digestive tract development (GO:0048565)|enucleate erythrocyte differentiation (GO:0043353)|G1/S transition of mitotic cell cycle (GO:0000082)|glial cell apoptotic process (GO:0034349)|hepatocyte apoptotic process (GO:0097284)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|myoblast differentiation (GO:0045445)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0071930)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron apoptotic process (GO:0051402)|neuron maturation (GO:0042551)|neuron projection development (GO:0031175)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein localization to chromosome, centromeric region (GO:0071459)|Ras protein signal transduction (GO:0007265)|regulation of centromere complex assembly (GO:0090230)|regulation of cohesin localization to chromatin (GO:0071922)|regulation of lipid kinase activity (GO:0043550)|regulation of mitotic cell cycle (GO:0007346)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|sister chromatid biorientation (GO:0031134)|skeletal muscle cell differentiation (GO:0035914)|striated muscle cell differentiation (GO:0051146)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromatin (GO:0000785)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|Rb-E2F complex (GO:0035189)|spindle (GO:0005819)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|phosphoprotein binding (GO:0051219)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)	p.?(23)|p.0?(15)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	"""Insulin(DB00071)|Insulin Regular(DB00030)"	CTATTTTAACGTAAGCCATAT	0.279		6	"D, Mis, N, F, S"		"retinoblastoma, sarcoma, breast, small cell lung"	"retinoblastoma, sarcoma, breast, small cell lung"			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)																												ENST00000267163.4		6	yes	Rec	yes	Familial retinoblastoma	13	13q14	5925	"D, Mis, N, F, S"	retinoblastoma gene			"L, E, M, O"		"retinoblastoma, sarcoma, breast, small cell lung"	"retinoblastoma, sarcoma, breast, small cell lung"		38	Unknown(23)|Whole gene deletion(15)	p.?(23)|p.0?(15)	bone(12)|eye(6)|urinary_tract(5)|breast(5)|endometrium(3)|central_nervous_system(2)|lung(2)|adrenal_gland(1)|soft_tissue(1)|haematopoietic_and_lymphoid_tissue(1)	NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496	GRCh37	CS890133|CS982341	RB1	S		c.e12+1		retinoblastoma 1	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)						80	87	84					13																	48947629		2202	4287	6489	SO:0001630	splice_region_variant	5925	Hereditary Retinoblastoma	Familial Cancer Database		androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	g.chr13:48947629G>A	M15400	CCDS31973.1	13q14.2	2014-09-17	2008-07-31		ENSG00000139687	ENSG00000139687		"Endogenous ligands"	9884	protein-coding gene	gene with protein product	"prepro-retinoblastoma-associated protein", "protein phosphatase 1, regulatory subunit 130"	614041	"osteosarcoma"	OSRC		1857421, 15057823	Standard	NM_000321		Approved	RB, PPP1R130	uc001vcb.3	P06400	OTTHUMG00000016900	ENST00000267163.4:c.1215+1G>A	13.37:g.48947629G>A		TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)						NM_000321.2	NP_000312.2	P06400	RB_HUMAN		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	12	1353	+		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)						A8K5E3|P78499|Q5VW46|Q8IZL4	Splice_Site	SNP	ENST00000267163.4	37		CCDS31973.1	.	.	.	.	.	.	.	.	.	.	G	18.71	3.681750	0.68042	.	.	ENSG00000139687	ENST00000542917;ENST00000267163	.	.	.	5.36	5.36	0.76844	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.0805	0.93179	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	RB1	47845630	1.000000	0.71417	1.000000	0.80357	0.844000	0.47949	7.247000	0.78257	2.510000	0.84645	0.563000	0.77884	.		0.279	RB1-002	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000044884.1		Intron	4	66	0	0	0	1	0	4	66					A	48947629	G	A	48947629	5	1	305	1	0	0	0	0	0	0	1	0	13098	1159	40	1	1262	1	RB1	13	48947629	Splice_Site	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	2317669	48947629	66222249	718	15235											
RB1	5925	broad.mit.edu	37	chr13	49030367	49030368	+	Frame_Shift_Ins	INS	-	-	A																															ctcctgtaagatctccaaagINSaaaaaaggttcaactacgcg																										TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr13:49030367_49030368insA	ENST00000267163.4	+	19	1980_1981	c.1842_1843insA	c.(1843-1845)aaafs	p.K615fs		NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1	615	Pocket; binds T and E1A.|Spacer.				androgen receptor signaling pathway (GO:0030521)|cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|cell morphogenesis involved in neuron differentiation (GO:0048667)|chromatin remodeling (GO:0006338)|digestive tract development (GO:0048565)|enucleate erythrocyte differentiation (GO:0043353)|G1/S transition of mitotic cell cycle (GO:0000082)|glial cell apoptotic process (GO:0034349)|hepatocyte apoptotic process (GO:0097284)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|myoblast differentiation (GO:0045445)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0071930)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron apoptotic process (GO:0051402)|neuron maturation (GO:0042551)|neuron projection development (GO:0031175)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein localization to chromosome, centromeric region (GO:0071459)|Ras protein signal transduction (GO:0007265)|regulation of centromere complex assembly (GO:0090230)|regulation of cohesin localization to chromatin (GO:0071922)|regulation of lipid kinase activity (GO:0043550)|regulation of mitotic cell cycle (GO:0007346)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|sister chromatid biorientation (GO:0031134)|skeletal muscle cell differentiation (GO:0035914)|striated muscle cell differentiation (GO:0051146)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromatin (GO:0000785)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|Rb-E2F complex (GO:0035189)|spindle (GO:0005819)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|phosphoprotein binding (GO:0051219)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)	p.0?(15)|p.?(10)|p.G617fs*6(1)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	"""Insulin(DB00071)|Insulin Regular(DB00030)"	GATCTCCAAAGAAAAAAGGTTC	0.381		6	"D, Mis, N, F, S"		"retinoblastoma, sarcoma, breast, small cell lung"	"retinoblastoma, sarcoma, breast, small cell lung"			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)																												ENST00000267163.4		6	yes	Rec	yes	Familial retinoblastoma	13	13q14	5925	"D, Mis, N, F, S"	retinoblastoma gene			"L, E, M, O"		"retinoblastoma, sarcoma, breast, small cell lung"	"retinoblastoma, sarcoma, breast, small cell lung"		26	Whole gene deletion(15)|Unknown(10)|Deletion - Frameshift(1)	p.0?(15)|p.?(10)|p.G617fs*6(1)	bone(10)|haematopoietic_and_lymphoid_tissue(4)|breast(4)|lung(2)|adrenal_gland(1)|eye(1)|soft_tissue(1)|endometrium(1)|urinary_tract(1)|liver(1)	NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496						c.(1840-1845)aaaaaafs		retinoblastoma 1	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)																																			SO:0001589	frameshift_variant	5925	Hereditary Retinoblastoma	Familial Cancer Database		androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	g.chr13:49030367_49030368insA	M15400	CCDS31973.1	13q14.2	2014-09-17	2008-07-31		ENSG00000139687	ENSG00000139687		"Endogenous ligands"	9884	protein-coding gene	gene with protein product	"prepro-retinoblastoma-associated protein", "protein phosphatase 1, regulatory subunit 130"	614041	"osteosarcoma"	OSRC		1857421, 15057823	Standard	NM_000321		Approved	RB, PPP1R130	uc001vcb.3	P06400	OTTHUMG00000016900	ENST00000267163.4:c.1848dupA	13.37:g.49030373_49030373dupA	ENSP00000267163:p.Lys615fs	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)					p.KK614fs	NM_000321.2	NP_000312.2	P06400	RB_HUMAN		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	19	1980_1981	+		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)	614			Pocket; binds T and E1A.|Spacer.		A8K5E3|P78499|Q5VW46|Q8IZL4	Frame_Shift_Ins	INS	ENST00000267163.4	37	c.1842_1843insA	CCDS31973.1																																																																																				0.381	RB1-002	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000044884.1			12	34						12	34	---	---	---	---	A	49030368	-	A	49030367	7	5	305	1	0	1	1	0	0	0	0	0	13098	933	33	0	1916	0	RB1	13	49030367	Frame_Shift_Ins	INS	-	TCGA-KK-A59V-01A-11D-A29Q-08	82738	49030367	66139511	719	15236											
PCDH17	27253	broad.mit.edu	37	chr13	58208512	58208512	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctatctggtgagcactgtgcGcgccctagacagcgacttcg	7	9	12	13	4	1	2	0	1	1	1	2	3	1	2	1	1	3	1	1	1	2	3			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr13:58208512G>T	ENST00000377918.3	+	1	1858	c.1832G>T	c.(1831-1833)cGc>cTc	p.R611L		NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN	protocadherin 17	611	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		AGCACTGTGCGCGCCCTAGAC	0.662																																					Melanoma(72;952 1291 1619 12849 33676)	ENST00000377918.3																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120						c.(1831-1833)cGc>cTc		protocadherin 17							34	33	34					13																	58208512		2201	4297	6498	SO:0001583	missense	27253				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding	g.chr13:58208512G>T	AF029343	CCDS31986.1	13q21.1	2010-01-26			ENSG00000118946	ENSG00000118946		"Cadherins / Protocadherins : Non-clustered"	14267	protein-coding gene	gene with protein product		611760				10835267	Standard	NM_001040429		Approved	PCDH68, PCH68	uc001vhq.1	O14917	OTTHUMG00000016992	ENST00000377918.3:c.1832G>T	13.37:g.58208512G>T	ENSP00000367151:p.Arg611Leu						p.R611L	NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN		GBM - Glioblastoma multiforme(99;1.06e-05)	1	1858	+		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)	611			Cadherin 6.		A8K1R5|Q5VVW9|Q5VVX0	Missense_Mutation	SNP	ENST00000377918.3	37	c.1832G>T	CCDS31986.1	.	.	.	.	.	.	.	.	.	.	G	15.27	2.782353	0.49891	.	.	ENSG00000118946	ENST00000377918	T	0.52754	0.65	5.36	5.36	0.76844	Cadherin (4);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.62417	0.2426	L	0.49571	1.57	0.53688	D	0.999979	P;D	0.57257	0.929;0.979	P;P	0.62885	0.766;0.908	T	0.58736	-0.7584	9	.	.	.	.	19.0883	0.93215	0.0:0.0:1.0:0.0	.	611;611	O14917-2;O14917	.;PCD17_HUMAN	L	611	ENSP00000367151:R611L	.	R	+	2	0	PCDH17	57106513	1.000000	0.71417	1.000000	0.80357	0.853000	0.48598	5.685000	0.68204	2.500000	0.84329	0.561000	0.74099	CGC		0.662	PCDH17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045139.1	NM_001040429		4	86	1	0	0.150653	1	0.151212	4	86					T	58208512	G	T	58208512	3	4	305	1	0	0	0	0	1	0	0	0	11512	1087	38	5	1834	5	PCDH17	13	58208512	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	9178145	58208512	56961366	720	15237											
TBC1D4	9882	broad.mit.edu	37	chr13	75915275	75915275	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tctcacagaagggccttcccCgatgtgcacgtgtgtcttct	6	12	10	13	2	3	1	1	0	3	1	5	2	4	1	3	1	1	1	3	1	1	2	rs377319895		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr13:75915275C>T	ENST00000377636.3	-	7	1943	c.1597G>A	c.(1597-1599)Ggg>Agg	p.G533R	TBC1D4_ENST00000425511.1_5'UTR|TBC1D4_ENST00000377625.2_Missense_Mutation_p.G533R|TBC1D4_ENST00000431480.2_Missense_Mutation_p.G533R	NM_014832.2	NP_055647.2	O60343	TBCD4_HUMAN	TBC1 domain family, member 4	533					cellular response to insulin stimulus (GO:0032869)|membrane organization (GO:0061024)|negative regulation of vesicle fusion (GO:0031339)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|extracellular vesicular exosome (GO:0070062)	Rab GTPase activator activity (GO:0005097)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(12)|lung(18)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Prostate(6;0.014)|Breast(118;0.0982)		GBM - Glioblastoma multiforme(99;0.0116)		GGGCCTTCCCCGATGTGCACG	0.413																																						ENST00000377636.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(12)|lung(18)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						c.(1597-1599)Ggg>Agg		TBC1 domain family, member 4		C	ARG/GLY	0,3990		0,0,1995	130	126	127		1597	5.1	0.9	13		127	1,8345		0,1,4172	no	missense	TBC1D4	NM_014832.2	125	0,1,6167	TT,TC,CC		0.012,0.0,0.0081	probably-damaging	533/1299	75915275	1,12335	1995	4173	6168	SO:0001583	missense	9882					cytoplasm	Rab GTPase activator activity	g.chr13:75915275C>T	AB011175	CCDS41901.1, CCDS66563.1, CCDS66564.1	13q22.2	2013-07-09			ENSG00000136111	ENSG00000136111			19165	protein-coding gene	gene with protein product	"Akt substrate of 160 kDa"	612465				11829485, 11994271, 15304337	Standard	XM_005266603		Approved	KIAA0603, AS160, DKFZp779C0666	uc001vjl.1	O60343	OTTHUMG00000017088	ENST00000377636.3:c.1597G>A	13.37:g.75915275C>T	ENSP00000366863:p.Gly533Arg					TBC1D4_ENST00000431480.2_Missense_Mutation_p.G533R|TBC1D4_ENST00000377625.2_Missense_Mutation_p.G533R|TBC1D4_ENST00000425511.1_5'UTR	p.G533R	NM_014832.2	NP_055647.2	O60343	TBCD4_HUMAN		GBM - Glioblastoma multiforme(99;0.0116)	7	1943	-		Prostate(6;0.014)|Breast(118;0.0982)	533					A7E2X8|B4DU25|B4E235|B6ETN8|B6ETN9|Q5W0B9|Q68D14	Missense_Mutation	SNP	ENST00000377636.3	37	c.1597G>A	CCDS41901.1	.	.	.	.	.	.	.	.	.	.	C	16.94	3.261154	0.59431	0.0	1.2E-4	ENSG00000136111	ENST00000377636;ENST00000431480;ENST00000377625;ENST00000413735	T;T;T;T	0.30714	3.65;3.63;3.68;1.52	5.07	5.07	0.68467	.	0.241541	0.27861	N	0.017555	T	0.56187	0.1968	M	0.71036	2.16	0.80722	D	1	D;D;D	0.89917	0.99;1.0;0.999	P;D;P	0.68483	0.763;0.958;0.88	T	0.59878	-0.7371	10	0.72032	D	0.01	-10.2036	18.8012	0.92018	0.0:1.0:0.0:0.0	.	533;533;533	O60343-2;O60343-3;O60343	.;.;TBCD4_HUMAN	R	533;533;533;45	ENSP00000366863:G533R;ENSP00000395986:G533R;ENSP00000366852:G533R;ENSP00000396932:G45R	ENSP00000366852:G533R	G	-	1	0	TBC1D4	74813276	1.000000	0.71417	0.929000	0.37066	0.063000	0.16089	7.129000	0.77225	2.525000	0.85131	0.650000	0.86243	GGG		0.413	TBC1D4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045283.1	NM_014832		16	38	0	0	0	1	0	16	38					T	75915275	C	T	75915275	3	4	305	1	0	0	0	0	1	0	0	0	15619	652	23	2	2359	2	TBC1D4	13	75915275	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	17706763	75915275	39254603	721	15238											
MYCBP2	23077	broad.mit.edu	37	chr13	77844149	77844149	+	Frame_Shift_Del	DEL	T	T	-																															gagcataccctaaccaagacTttttttcttttctgtttcta																										TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr13:77844149delT	ENST00000544440.2	-	7	1141	c.1124delA	c.(1123-1125)aagfs	p.K375fs	MYCBP2_ENST00000360084.5_5'UTR|MYCBP2_ENST00000357337.6_Frame_Shift_Del_p.K375fs|MYCBP2_ENST00000407578.2_Frame_Shift_Del_p.K413fs					MYC binding protein 2, E3 ubiquitin protein ligase											NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		TAACCAAGACTTTTTTTCTTT	0.289																																						ENST00000407578.2																			0				NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118						c.(1237-1239)agfs		MYC binding protein 2, E3 ubiquitin protein ligase							108	121	117					13																	77844149		2203	4295	6498	SO:0001589	frameshift_variant	23077				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding	g.chr13:77844149delT	AB020723		13q22	2012-02-23	2012-02-23		ENSG00000005810	ENSG00000005810			23386	protein-coding gene	gene with protein product		610392	"MYC binding protein 2"			9689053, 15057823	Standard	NM_015057		Approved	PAM, KIAA0916, FLJ10106	uc021rks.1	O75592	OTTHUMG00000017105	ENST00000544440.2:c.1124delA	13.37:g.77844149delT	ENSP00000444596:p.Lys375fs					MYCBP2_ENST00000357337.6_Frame_Shift_Del_p.K375fs|MYCBP2_ENST00000360084.5_5'UTR|MYCBP2_ENST00000544440.2_Frame_Shift_Del_p.K375fs	p.K413fs	NM_015057.4	NP_055872.4	O75592	MYCB2_HUMAN		GBM - Glioblastoma multiforme(99;0.109)	7	1504	-		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)	375						Frame_Shift_Del	DEL	ENST00000544440.2	37	c.1238delA																																																																																					0.289	MYCBP2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000045326.1	NM_015057		10	163						10	163	---	---	---	---	-	77844149	T	-	77844149	7	5	305	1	0	1	0	1	0	0	0	0	10018	1609	56	0	13106	0	MYCBP2	13	77844149	Frame_Shift_Del	DEL	T	TCGA-KK-A59V-01A-11D-A29Q-08	1928874	77844149	37325729	722	15239											
NALCN	259232	broad.mit.edu	37	chr13	101717893	101717893	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agccgcagcaggaacttgacGcggaacgtggggatcacccc	10	4	14	13	4	1	1	1	1	0	0	1	4	1	4	3	4	4	2	3	4	2	1			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr13:101717893G>A	ENST00000251127.6	-	40	4548	c.4467C>T	c.(4465-4467)cgC>cgT	p.R1489R		NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	1489					calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|cell death (GO:0008219)|ion transmembrane transport (GO:0034220)|membrane depolarization during action potential (GO:0086010)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium channel activity (GO:0005272)|voltage-gated calcium channel activity (GO:0005245)			NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					GGAACTTGACGCGGAACGTGG	0.532																																						ENST00000251127.6																			0				NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177						c.(4465-4467)cgC>cgT		sodium leak channel, non-selective							80	67	72					13																	101717893		2203	4300	6503	SO:0001819	synonymous_variant	259232					integral to membrane	sodium channel activity|voltage-gated ion channel activity	g.chr13:101717893G>A	AY141972	CCDS9498.1	13q32.3	2012-02-21	2007-04-26	2007-04-26	ENSG00000102452	ENSG00000102452		"Ion channels / Sodium leak channels, non-selective"	19082	protein-coding gene	gene with protein product		611549	"voltage gated channel like 1"	VGCNL1		17448995	Standard	XM_006719943		Approved	bA430M15.1, CanIon	uc001vox.1	Q8IZF0	OTTHUMG00000017295	ENST00000251127.6:c.4467C>T	13.37:g.101717893G>A							p.R1489R	NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN			40	4548	-	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		1489					Q6P2S6|Q6ZMI7|Q8IZZ1|Q8TAH1	Silent	SNP	ENST00000251127.6	37	c.4467C>T	CCDS9498.1																																																																																				0.532	NALCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045663.2	NM_052867		4	88	0	0	0	1	0	4	88					A	101717893	G	A	101717893	2	1	305	1	0	0	0	0	0	0	0	1	10148	1074	38	1		1	NALCN	13	101717893	Silent	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	23873744	101717893	13451985	723	15240											
NALCN	259232	broad.mit.edu	37	chr13	101755543	101755543	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caaaaaaatttccttgaagcCgctgaaaagttctcgaacaa	17	9	6	9	2	1	2	0	2	1	0	3	3	2	2	2	0	2	2	2	0	8	3			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr13:101755543C>T	ENST00000251127.6	-	26	3118	c.3037G>A	c.(3037-3039)Ggc>Agc	p.G1013S		NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	1013					calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|cell death (GO:0008219)|ion transmembrane transport (GO:0034220)|membrane depolarization during action potential (GO:0086010)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium channel activity (GO:0005272)|voltage-gated calcium channel activity (GO:0005245)	p.G1013C(1)		NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					TCCTTGAAGCCGCTGAAAAGT	0.453																																						ENST00000251127.6																			1	Substitution - Missense(1)	p.G1013C(1)	lung(1)	NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177						c.(3037-3039)Ggc>Agc		sodium leak channel, non-selective							107	114	112					13																	101755543		2203	4300	6503	SO:0001583	missense	259232					integral to membrane	sodium channel activity|voltage-gated ion channel activity	g.chr13:101755543C>T	AY141972	CCDS9498.1	13q32.3	2012-02-21	2007-04-26	2007-04-26	ENSG00000102452	ENSG00000102452		"Ion channels / Sodium leak channels, non-selective"	19082	protein-coding gene	gene with protein product		611549	"voltage gated channel like 1"	VGCNL1		17448995	Standard	XM_006719943		Approved	bA430M15.1, CanIon	uc001vox.1	Q8IZF0	OTTHUMG00000017295	ENST00000251127.6:c.3037G>A	13.37:g.101755543C>T	ENSP00000251127:p.Gly1013Ser						p.G1013S	NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN			26	3118	-	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		1013					Q6P2S6|Q6ZMI7|Q8IZZ1|Q8TAH1	Missense_Mutation	SNP	ENST00000251127.6	37	c.3037G>A	CCDS9498.1	.	.	.	.	.	.	.	.	.	.	C	29.2	4.989463	0.93106	.	.	ENSG00000102452	ENST00000251127	D	0.97752	-4.52	5.03	5.03	0.67393	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.97084	0.9047	N	0.16201	0.385	0.80722	D	1	D	0.89917	1.0	D	0.71656	0.974	D	0.98750	1.0720	10	0.62326	D	0.03	.	18.7562	0.91833	0.0:1.0:0.0:0.0	.	1013	Q8IZF0	NALCN_HUMAN	S	1013	ENSP00000251127:G1013S	ENSP00000251127:G1013S	G	-	1	0	NALCN	100553544	1.000000	0.71417	0.978000	0.43139	0.924000	0.55760	7.345000	0.79337	2.488000	0.83962	0.650000	0.86243	GGC		0.453	NALCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045663.2	NM_052867		8	149	0	0	0	1	0	8	149					T	101755543	C	T	101755543	3	4	305	1	0	0	0	0	1	0	0	0	10148	652	23	2	2255	2	NALCN	13	101755543	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	37650	101755543	13414335	724	15241											
LIG4	3981	broad.mit.edu	37	chr13	108863523	108863523	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgtctgattttttctgcacGtcctttacttttctgtattc	4	22	6	9	1	3	1	0	1	3	0	5	1	4	1	1	0	2	2	1	0	2	9			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr13:108863523G>A	ENST00000356922.4	-	2	366	c.94C>T	c.(94-96)Cgt>Tgt	p.R32C	LIG4_ENST00000442234.1_Missense_Mutation_p.R32C|LIG4_ENST00000405925.1_Missense_Mutation_p.R32C	NM_002312.3|NM_206937.1	NP_002303.2|NP_996820.1	P49917	DNLI4_HUMAN	ligase IV, DNA, ATP-dependent	32					cell cycle (GO:0007049)|cell division (GO:0051301)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|chromosome organization (GO:0051276)|DNA biosynthetic process (GO:0071897)|DNA ligation (GO:0006266)|DNA ligation involved in DNA recombination (GO:0051102)|DNA ligation involved in DNA repair (GO:0051103)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|establishment of integrated proviral latency (GO:0075713)|in utero embryonic development (GO:0001701)|isotype switching (GO:0045190)|lagging strand elongation (GO:0006273)|negative regulation of neuron apoptotic process (GO:0043524)|neuron apoptotic process (GO:0051402)|nucleotide-excision repair, DNA gap filling (GO:0006297)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of neurogenesis (GO:0050769)|pro-B cell differentiation (GO:0002328)|response to gamma radiation (GO:0010332)|response to X-ray (GO:0010165)|single strand break repair (GO:0000012)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)|T cell receptor V(D)J recombination (GO:0033153)|V(D)J recombination (GO:0033151)|viral process (GO:0016032)	condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|DNA ligase IV complex (GO:0032807)|DNA-dependent protein kinase-DNA ligase 4 complex (GO:0005958)|focal adhesion (GO:0005925)|nonhomologous end joining complex (GO:0070419)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA ligase (ATP) activity (GO:0003910)|DNA ligase activity (GO:0003909)|ligase activity (GO:0016874)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42	all_lung(23;0.000238)|all_neural(89;0.00256)|Lung NSC(43;0.0056)|Medulloblastoma(90;0.00596)|Lung SC(71;0.104)					TTTTCTGCACGTCCTTTACTT	0.373								Non-homologous end-joining																														ENST00000356922.4																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						c.(94-96)Cgt>Tgt	Non-homologous end-joining	ligase IV, DNA, ATP-dependent							45	47	46					13																	108863523		2203	4297	6500	SO:0001583	missense	3981				cell cycle|cell division|cell proliferation|central nervous system development|chromosome organization|DNA ligation involved in DNA recombination|DNA ligation involved in DNA repair|DNA replication|double-strand break repair via nonhomologous end joining|in utero embryonic development|initiation of viral infection|isotype switching|negative regulation of neuron apoptosis|neuron apoptosis|nucleotide-excision repair, DNA gap filling|positive regulation of fibroblast proliferation|positive regulation of neurogenesis|pro-B cell differentiation|provirus integration|response to gamma radiation|response to X-ray|single strand break repair|somatic stem cell maintenance|T cell differentiation in thymus|T cell receptor V(D)J recombination	condensed chromosome|cytoplasm|DNA ligase IV complex|DNA-dependent protein kinase-DNA ligase 4 complex|focal adhesion|nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding|protein C-terminus binding	g.chr13:108863523G>A	X83441	CCDS9508.1	13q33-q34	2014-09-17			ENSG00000174405	ENSG00000174405	6.5.1.1		6601	protein-coding gene	gene with protein product	"polydeoxyribonucleotide synthase [ATP] 4", "polynucleotide ligase", "sealase", "DNA repair enzyme", "DNA joinase"	601837				7760816	Standard	NM_001098268		Approved		uc001vqo.3	P49917	OTTHUMG00000017328	ENST00000356922.4:c.94C>T	13.37:g.108863523G>A	ENSP00000349393:p.Arg32Cys					LIG4_ENST00000405925.1_Missense_Mutation_p.R32C|LIG4_ENST00000442234.1_Missense_Mutation_p.R32C	p.R32C	NM_002312.3|NM_206937.1	NP_002303.2|NP_996820.1	P49917	DNLI4_HUMAN			2	366	-	all_lung(23;0.000238)|all_neural(89;0.00256)|Lung NSC(43;0.0056)|Medulloblastoma(90;0.00596)|Lung SC(71;0.104)		32					Q8IY66|Q8TEU5	Missense_Mutation	SNP	ENST00000356922.4	37	c.94C>T	CCDS9508.1	.	.	.	.	.	.	.	.	.	.	G	12.44	1.937607	0.34189	.	.	ENSG00000174405	ENST00000405925;ENST00000442234;ENST00000356922	T;T;T	0.31247	1.5;1.5;1.5	6.15	5.31	0.75309	DNA ligase, ATP-dependent, N-terminal (3);	0.000000	0.85682	D	0.000000	T	0.37758	0.1015	N	0.24115	0.695	0.80722	D	1	D	0.76494	0.999	D	0.69479	0.964	T	0.27773	-1.0064	10	0.62326	D	0.03	.	9.634	0.39795	0.0703:0.0:0.7895:0.1402	.	32	P49917	DNLI4_HUMAN	C	32	ENSP00000385955:R32C;ENSP00000402030:R32C;ENSP00000349393:R32C	ENSP00000349393:R32C	R	-	1	0	LIG4	107661524	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	4.967000	0.63722	1.622000	0.50330	0.643000	0.83706	CGT		0.373	LIG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045738.4	NM_002312		14	41	0	0	0	1	0	14	41					A	108863523	G	A	108863523	3	1	305	1	0	0	0	0	1	0	0	0	8783	1145	40	1	2645	1	LIG4	13	108863523	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	7107980	108863523	6306355	725	15242											
C13orf28	122258	broad.mit.edu	37	chr13	113053404	113053404	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggtattgatgagaattatcAagctggtggttctgagaatt	11	15	12	3	0	2	3	1	3	1	2	2	5	2	3	0	3	1	3	0	3	5	5			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr13:113053404A>G	ENST00000283550.3	+	4	333	c.266A>G	c.(265-267)cAa>cGa	p.Q89R	SPACA7_ENST00000375699.3_Missense_Mutation_p.Q58R	NM_145248.4	NP_660291.2	Q96KW9	SPAC7_HUMAN	sperm acrosome associated 7	89						acrosomal vesicle (GO:0001669)|extracellular region (GO:0005576)				large_intestine(5)|lung(4)|skin(3)|urinary_tract(1)	13						GAGAATTATCAAGCTGGTGGT	0.353																																						ENST00000375699.3																			0				large_intestine(5)|lung(4)|skin(3)|urinary_tract(1)	13						c.(172-174)cAa>cGa		sperm acrosome associated 7							89	91	90					13																	113053404		2203	4300	6503	SO:0001583	missense	122258					extracellular region		g.chr13:113053404A>G	BC016750	CCDS9524.1	13q34	2013-10-11	2011-03-15	2011-03-15	ENSG00000153498	ENSG00000153498			29575	protein-coding gene	gene with protein product			"chromosome 13 open reading frame 28"	C13orf28		22495889	Standard	NM_145248		Approved		uc001vsd.2	Q96KW9	OTTHUMG00000017365	ENST00000283550.3:c.266A>G	13.37:g.113053404A>G	ENSP00000283550:p.Gln89Arg					SPACA7_ENST00000283550.3_Missense_Mutation_p.Q89R	p.Q58R			Q96KW9	SPAC7_HUMAN			3	345	+			89					Q5T8L1	Missense_Mutation	SNP	ENST00000283550.3	37	c.173A>G	CCDS9524.1	.	.	.	.	.	.	.	.	.	.	A	8.066	0.769168	0.15983	.	.	ENSG00000153498	ENST00000283550;ENST00000414180;ENST00000443541;ENST00000375699	T;T;T;T	0.49720	0.77;0.77;0.77;0.77	3.12	1.9	0.25705	.	.	.	.	.	T	0.46964	0.1420	L	0.29908	0.895	0.09310	N	1	D	0.62365	0.991	P	0.58130	0.833	T	0.27365	-1.0076	9	0.87932	D	0	-4.837	6.3308	0.21269	0.7437:0.2563:0.0:0.0	.	89	Q96KW9	SPAC7_HUMAN	R	89;77;75;58	ENSP00000283550:Q89R;ENSP00000416096:Q77R;ENSP00000406733:Q75R;ENSP00000364851:Q58R	ENSP00000283550:Q89R	Q	+	2	0	SPACA7	112101405	0.001000	0.12720	0.002000	0.10522	0.008000	0.06430	0.457000	0.21875	0.570000	0.29347	0.528000	0.53228	CAA		0.353	SPACA7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045820.2	NM_145248		4	28	0	0	0	1	0	4	28					G	113053404	A	G	113053404	3	3	305	1	0	0	0	0	1	0	0	0	1724	130	5	4	280	4	C13orf28	13	113053404	Missense_Mutation	SNP	A	TCGA-KK-A59V-01A-11D-A29Q-08	4189881	113053404	2116474	726	15243											
TUBGCP3	10426	broad.mit.edu	37	chr13	113212589	113212589	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgatgccactgctgcccaCgctgccggagctctgggctg	4	8	14	15	2	1	1	0	1	1	0	1	2	1	2	3	2	5	5	3	2	0	0			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr13:113212589C>T	ENST00000261965.3	-	5	655	c.469G>A	c.(469-471)Gtg>Atg	p.V157M	TUBGCP3_ENST00000375669.3_Missense_Mutation_p.V157M	NM_006322.4	NP_006313.1	Q96CW5	GCP3_HUMAN	tubulin, gamma complex associated protein 3	157					G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)|single fertilization (GO:0007338)	centriole (GO:0005814)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|polar microtubule (GO:0005827)|spindle (GO:0005819)	gamma-tubulin binding (GO:0043015)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|urinary_tract(1)	25	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)					CTGCTGCCCACGCTGCCGGAG	0.622																																						ENST00000261965.3																			0				central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|urinary_tract(1)	25						c.(469-471)Gtg>Atg		tubulin, gamma complex associated protein 3							71	69	70					13																	113212589		2203	4300	6503	SO:0001583	missense	10426				G2/M transition of mitotic cell cycle|microtubule nucleation|single fertilization	centriole|cytosol|polar microtubule	gamma-tubulin binding|structural constituent of cytoskeleton	g.chr13:113212589C>T	AF042378	CCDS9525.1, CCDS66584.1, CCDS73599.1	13q34	2008-07-18			ENSG00000126216	ENSG00000126216			18598	protein-coding gene	gene with protein product	"spindle pole body protein"					9566967, 9566969	Standard	XM_005268293		Approved	GCP3, Spc98p, SPBC98	uc001vse.1	Q96CW5	OTTHUMG00000017367	ENST00000261965.3:c.469G>A	13.37:g.113212589C>T	ENSP00000261965:p.Val157Met					TUBGCP3_ENST00000375669.3_Missense_Mutation_p.V157M	p.V157M	NM_006322.4	NP_006313.1	Q96CW5	GCP3_HUMAN			5	655	-	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)		157					O43631|O60852|O60853|Q5T8L2|Q7Z4K1|Q96I79	Missense_Mutation	SNP	ENST00000261965.3	37	c.469G>A	CCDS9525.1	.	.	.	.	.	.	.	.	.	.	C	9.161	1.018681	0.19355	.	.	ENSG00000126216	ENST00000261965;ENST00000375669	T;T	0.22743	1.95;1.94	4.81	-9.63	0.00544	.	0.538666	0.21390	N	0.075335	T	0.02767	0.0083	N	0.00538	-1.39	0.09310	N	1	B;B;B;B	0.27380	0.002;0.177;0.003;0.001	B;B;B;B	0.15870	0.001;0.014;0.002;0.001	T	0.27400	-1.0075	10	0.36615	T	0.2	-2.2379	2.1391	0.03770	0.1487:0.2516:0.3778:0.2219	.	147;157;157;157	B4DYP7;Q96CW5-3;Q96CW5-2;Q96CW5	.;.;.;GCP3_HUMAN	M	157	ENSP00000261965:V157M;ENSP00000364821:V157M	ENSP00000261965:V157M	V	-	1	0	TUBGCP3	112260590	0.099000	0.21834	0.016000	0.15963	0.725000	0.41563	-0.267000	0.08619	-2.546000	0.00482	-0.401000	0.06369	GTG		0.622	TUBGCP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045825.2	NM_006322		24	56	0	0	0	1	0	24	56					T	113212589	C	T	113212589	3	4	305	1	0	0	0	0	1	0	0	0	16764	536	19	1	2326	1	TUBGCP3	13	113212589	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	159185	113212589	1957289	727	15244											
F7	2155	broad.mit.edu	37	chr13	113772753	113772753	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acgacctcagcgagcacgacGgggatgagcagagccggcgg	10	2	17	12	6	1	2	1	1	0	1	1	6	1	3	2	4	4	2	2	4	0	0			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr13:113772753G>A	ENST00000375581.3	+	9	867	c.832G>A	c.(832-834)Ggg>Agg	p.G278R	F7_ENST00000541084.1_Missense_Mutation_p.G209R|F7_ENST00000346342.3_Missense_Mutation_p.G256R	NM_000131.4	NP_000122.1	P08709	FA7_HUMAN	coagulation factor VII (serum prothrombin conversion accelerator)	278	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				blood coagulation (GO:0007596)|blood coagulation, extrinsic pathway (GO:0007598)|cellular protein metabolic process (GO:0044267)|circadian rhythm (GO:0007623)|organ regeneration (GO:0031100)|peptidyl-glutamic acid carboxylation (GO:0017187)|positive regulation of blood coagulation (GO:0030194)|positive regulation of cell migration (GO:0030335)|positive regulation of leukocyte chemotaxis (GO:0002690)|positive regulation of platelet-derived growth factor receptor signaling pathway (GO:0010641)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of protein kinase B signaling (GO:0051897)|post-translational protein modification (GO:0043687)|proteolysis (GO:0006508)|response to estrogen (GO:0043627)|response to growth hormone (GO:0060416)|response to vitamin K (GO:0032571)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	calcium ion binding (GO:0005509)|glycoprotein binding (GO:0001948)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			large_intestine(4)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	16	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0364)|all_epithelial(44;0.0393)|Lung NSC(25;0.128)|Breast(118;0.188)	all cancers(43;0.0737)|Epithelial(84;0.213)|BRCA - Breast invasive adenocarcinoma(86;0.218)		Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Menadione(DB00170)	CGAGCACGACGGGGATGAGCA	0.687																																						ENST00000375581.3																			0				large_intestine(4)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	16						c.(832-834)Ggg>Agg		coagulation factor VII (serum prothrombin conversion accelerator)	Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Menadione(DB00170)						66	67	67					13																	113772753		2202	4299	6501	SO:0001583	missense	2155				anti-apoptosis|blood coagulation, extrinsic pathway|peptidyl-glutamic acid carboxylation|positive regulation of leukocyte chemotaxis|positive regulation of platelet-derived growth factor receptor signaling pathway|positive regulation of positive chemotaxis|positive regulation of protein kinase B signaling cascade|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|Golgi lumen|plasma membrane	calcium ion binding|glycoprotein binding|serine-type endopeptidase activity	g.chr13:113772753G>A		CCDS9528.1, CCDS9529.1, CCDS73602.1	13q34	2014-02-03			ENSG00000057593	ENSG00000057593	3.4.21.21		3544	protein-coding gene	gene with protein product	"eptacog alfa", "FVII coagulation protein", "factor VII"	613878				3264725, 2511201	Standard	NM_000131		Approved		uc001vsv.4	P08709	OTTHUMG00000017373	ENST00000375581.3:c.832G>A	13.37:g.113772753G>A	ENSP00000364731:p.Gly278Arg					F7_ENST00000346342.3_Missense_Mutation_p.G256R|F7_ENST00000541084.1_Missense_Mutation_p.G209R	p.G278R	NM_000131.4	NP_000122.1	P08709	FA7_HUMAN	all cancers(43;0.0737)|Epithelial(84;0.213)|BRCA - Breast invasive adenocarcinoma(86;0.218)		9	867	+	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0364)|all_epithelial(44;0.0393)|Lung NSC(25;0.128)|Breast(118;0.188)	278			Peptidase S1.		B0YJC8|Q14339|Q5JVF1|Q5JVF2|Q9UD52|Q9UD53|Q9UD54	Missense_Mutation	SNP	ENST00000375581.3	37	c.832G>A	CCDS9528.1	.	.	.	.	.	.	.	.	.	.	G	15.61	2.883883	0.51908	.	.	ENSG00000057593	ENST00000346342;ENST00000541084;ENST00000375581	D;D;D	0.90261	-2.64;-2.64;-2.64	4.28	3.41	0.39046	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.349316	0.28146	N	0.016430	D	0.91415	0.7291	L	0.39245	1.2	0.19575	N	0.999963	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.995;0.996;0.997	T	0.83033	-0.0161	10	0.66056	D	0.02	.	7.6223	0.28191	0.0945:0.0:0.7397:0.1658	.	209;256;278	F5H8B0;P08709-2;P08709	.;.;FA7_HUMAN	R	256;209;278	ENSP00000329546:G256R;ENSP00000442051:G209R;ENSP00000364731:G278R	ENSP00000329546:G256R	G	+	1	0	F7	112820754	1.000000	0.71417	0.004000	0.12327	0.001000	0.01503	3.486000	0.53215	0.967000	0.38186	0.313000	0.20887	GGG		0.687	F7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045838.4	NM_000131		37	98	0	0	0	1	0	37	98					A	113772753	G	A	113772753	3	1	305	1	0	0	0	0	1	0	0	0	5349	1116	39	2	866	2	F7	13	113772753	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	560164	113772753	1397125	728	15245											
ADPRHL1	113622	broad.mit.edu	37	chr13	114083366	114083366	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggggctttccttgtgcggCgaacgacacaaacagggccg	9	6	14	12	4	0	0	0	0	0	0	1	2	1	0	2	4	3	1	2	4	2	2			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr13:114083366C>T	ENST00000375418.3	-	4	633	c.547G>A	c.(547-549)Gcc>Acc	p.A183T	ADPRHL1_ENST00000356501.4_Missense_Mutation_p.A101T	NM_138430.3	NP_612439.2	Q8NDY3	ARHL1_HUMAN	ADP-ribosylhydrolase like 1	183					protein de-ADP-ribosylation (GO:0051725)		ADP-ribosylarginine hydrolase activity (GO:0003875)|magnesium ion binding (GO:0000287)			endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|skin(1)	11	Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0395)|all_epithelial(44;0.011)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188)	all cancers(43;0.0195)|GBM - Glioblastoma multiforme(44;0.116)			CCTTGTGCGGCGAACGACACA	0.667																																						ENST00000356501.4																			0				endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|skin(1)	11						c.(301-303)Gcc>Acc		ADP-ribosylhydrolase like 1							43	39	40					13																	114083366		2201	4296	6497	SO:0001583	missense	113622				protein de-ADP-ribosylation		ADP-ribosylarginine hydrolase activity|magnesium ion binding	g.chr13:114083366C>T	AJ313429	CCDS9535.1, CCDS9536.1	13q34	2003-06-19			ENSG00000153531	ENSG00000153531			21303	protein-coding gene	gene with protein product		610620				12070318	Standard	NM_138430		Approved	ARH2	uc001vtq.1	Q8NDY3	OTTHUMG00000017386	ENST00000375418.3:c.547G>A	13.37:g.114083366C>T	ENSP00000364567:p.Ala183Thr					ADPRHL1_ENST00000375418.3_Missense_Mutation_p.A183T	p.A101T	NM_199162.1	NP_954631.1	Q8NDY3	ARHL1_HUMAN	all cancers(43;0.0195)|GBM - Glioblastoma multiforme(44;0.116)		4	476	-	Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0395)|all_epithelial(44;0.011)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188)	183					Q5JUG2|Q96GD1	Missense_Mutation	SNP	ENST00000375418.3	37	c.301G>A	CCDS9535.1	.	.	.	.	.	.	.	.	.	.	C	18.51	3.639337	0.67244	.	.	ENSG00000153531	ENST00000356501;ENST00000375418;ENST00000413169	T;T;T	0.37411	1.2;1.2;1.2	5.08	5.08	0.68730	.	0.000000	0.85682	D	0.000000	T	0.66446	0.2790	M	0.88775	2.98	0.80722	D	1	D	0.76494	0.999	D	0.67103	0.949	T	0.73965	-0.3816	10	0.62326	D	0.03	-19.9759	18.4876	0.90835	0.0:1.0:0.0:0.0	.	183	Q8NDY3	ARHL1_HUMAN	T	101;183;101	ENSP00000348894:A101T;ENSP00000364567:A183T;ENSP00000416213:A101T	ENSP00000348894:A101T	A	-	1	0	ADPRHL1	113131367	1.000000	0.71417	0.060000	0.19600	0.057000	0.15508	6.989000	0.76219	2.353000	0.79882	0.462000	0.41574	GCC		0.667	ADPRHL1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045915.2	NM_138430		3	28	0	0	0	1	0	3	28					T	114083366	C	T	114083366	3	4	305	1	0	0	0	0	1	0	0	0	332	768	27	1	533	1	ADPRHL1	13	114083366	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	310613	114083366	1086512	729	15246											
CHD8	57680	broad.mit.edu	37	chr14	21876686	21876686	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ctgaatagttttgcccaatcCcatctcatcagccaggatgc	10	11	7	13	0	2	1	2	1	1	0	4	2	3	2	3	1	3	1	3	1	3	3			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr14:21876686C>T	ENST00000557364.1	-	13	2778	c.2515G>A	c.(2515-2517)Gga>Aga	p.G839R	CHD8_ENST00000555962.1_Intron|CHD8_ENST00000430710.3_Missense_Mutation_p.G560R|CHD8_ENST00000399982.2_Missense_Mutation_p.G839R			Q9HCK8	CHD8_HUMAN	chromodomain helicase DNA binding protein 8	839	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|canonical Wnt signaling pathway (GO:0060070)|DNA duplex unwinding (GO:0032508)|in utero embryonic development (GO:0001701)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of Wnt signaling pathway (GO:0030178)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	MLL1 complex (GO:0071339)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|beta-catenin binding (GO:0008013)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA-dependent ATPase activity (GO:0008094)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|p53 binding (GO:0002039)			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)		TTGCCCAATCCCATCTCATCA	0.408																																						ENST00000399982.2																			0				NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85						c.(2515-2517)Gga>Aga		chromodomain helicase DNA binding protein 8							62	58	59					14																	21876686		1921	4127	6048	SO:0001583	missense	57680				ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	MLL1 complex	ATP binding|beta-catenin binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|methylated histone residue binding|p53 binding	g.chr14:21876686C>T	AB046784	CCDS45081.1, CCDS53885.1	14q11.2	2008-02-05	2004-06-22	2004-06-23		ENSG00000100888			20153	protein-coding gene	gene with protein product		610528	"helicase with SNF2 domain 1"	HELSNF1		10997877	Standard	NM_020920		Approved	KIAA1564, DUPLIN	uc001war.2	Q9HCK8		ENST00000557364.1:c.2515G>A	14.37:g.21876686C>T	ENSP00000451601:p.Gly839Arg					CHD8_ENST00000555962.1_Intron|CHD8_ENST00000557364.1_Missense_Mutation_p.G839R|CHD8_ENST00000430710.3_Missense_Mutation_p.G560R	p.G839R	NM_001170629.1	NP_001164100.1	Q9HCK8	CHD8_HUMAN	Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)	12	2579	-	all_cancers(95;0.00121)		839			Helicase ATP-binding.		Q4G0D8|Q68DQ0|Q6DKH9|Q6P440|Q6ZNL7|Q8N3Z9|Q8NCY4|Q8TBR9|Q96F26	Missense_Mutation	SNP	ENST00000557364.1	37	c.2515G>A	CCDS53885.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	31|31	5.082940|5.082940	0.94050|0.94050	.|.	.|.	ENSG00000100888|ENSG00000100888	ENST00000555935|ENST00000430710;ENST00000399982;ENST00000262707;ENST00000557364	.|D;D;D	.|0.99812	.|-6.88;-6.88;-6.88	5.5|5.5	5.5|5.5	0.81552|0.81552	.|DEAD-like helicase (2);SNF2-related (1);	0.000000|0.000000	0.85682|0.85682	D|D	0.000000|0.000000	D|D	0.99906|0.99906	0.9955|0.9955	H|H	0.99650|0.99650	4.68|4.68	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.91635	.|0.999;0.997	D|D	0.96210|0.96210	0.9152|0.9152	6|10	.|0.87932	.|D	.|0	-20.3361|-20.3361	18.3222|18.3222	0.90242|0.90242	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|839;560	.|Q9HCK8;Q9HCK8-2	.|CHD8_HUMAN;.	E|R	64|560;839;559;839	.|ENSP00000406288:G560R;ENSP00000382863:G839R;ENSP00000451601:G839R	.|ENSP00000262707:G559R	G|G	-|-	2|1	0|0	CHD8|CHD8	20946526|20946526	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	7.651000|7.651000	0.83577|0.83577	2.850000|2.850000	0.98022|0.98022	0.650000|0.650000	0.86243|0.86243	GGG|GGA		0.408	CHD8-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410436.1	NM_020920		7	29	0	0	0	1	0	7	29					T	21876686	C	T	21876686	3	4	305	1	0	0	0	0	1	0	0	0	3331	632	22	3	5334	3	CHD8	14	21876686	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08		21876686	85472854	730	15247											
JUB	84962	broad.mit.edu	37	chr14	23444255	23444255	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggatgccatccaggcacttgTtgcaaacaatgcatcggaaa	13	8	10	10	1	0	0	0	0	0	0	2	2	1	2	2	3	4	4	2	3	3	2	rs200247985		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr14:23444255T>C	ENST00000262713.2	-	5	1673	c.1298A>G	c.(1297-1299)aAc>aGc	p.N433S	AJUBA_ENST00000361265.4_Missense_Mutation_p.N433S|RP11-298I3.5_ENST00000555074.1_Intron|AJUBA_ENST00000397388.3_Missense_Mutation_p.N16S	NM_032876.4	NP_116265.1	Q96IF1	AJUBA_HUMAN	ajuba LIM protein	433	LIM zinc-binding 2. {ECO:0000255|PROSITE- ProRule:PRU00125}.				calcium-dependent cell-cell adhesion (GO:0016339)|cellular protein localization (GO:0034613)|focal adhesion assembly (GO:0048041)|G2/M transition of mitotic cell cycle (GO:0000086)|gene silencing by miRNA (GO:0035195)|glycerophospholipid biosynthetic process (GO:0046474)|lamellipodium assembly (GO:0030032)|mitotic cell cycle (GO:0000278)|negative regulation of hippo signaling (GO:0035331)|negative regulation of kinase activity (GO:0033673)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cellular biosynthetic process (GO:0031328)|positive regulation of gene silencing by miRNA (GO:2000637)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein complex assembly (GO:0031334)|regulation of cell migration (GO:0030334)|regulation of cellular response to hypoxia (GO:1900037)|regulation of GTPase activity (GO:0043087)|response to hypoxia (GO:0001666)|transcription, DNA-templated (GO:0006351)|wound healing, spreading of epidermal cells (GO:0035313)	cell-cell junction (GO:0005911)|cytoplasmic mRNA processing body (GO:0000932)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|transcription factor complex (GO:0005667)	alpha-catenin binding (GO:0045294)|chromatin binding (GO:0003682)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)										CAGGCACTTGTTGCAAACAAT	0.522													T|||	1	0.000199681	0	0	5008	,	,		22356	0		0.001	False		,,,				2504	0					ENST00000262713.2																			0											c.(1297-1299)aAc>aGc		ajuba LIM protein							149	137	141					14																	23444255		2203	4300	6503	SO:0001583	missense	84962				cell cycle|gene silencing by miRNA|positive regulation of protein complex assembly	cell-cell junction|cytoplasmic mRNA processing body|microtubule organizing center	alpha-catenin binding|zinc ion binding	g.chr14:23444255T>C	AK025567	CCDS9581.1, CCDS9582.1	14q11.2	2011-11-10	2011-11-10	2011-11-10	ENSG00000129474	ENSG00000129474			20250	protein-coding gene	gene with protein product		609066	"jub, ajuba homolog (Xenopus laevis)"	JUB		10330178	Standard	NM_032876		Approved	MGC15563	uc001whz.3	Q96IF1	OTTHUMG00000028711	ENST00000262713.2:c.1298A>G	14.37:g.23444255T>C	ENSP00000262713:p.Asn433Ser					RP11-298I3.5_ENST00000555074.1_Intron|AJUBA_ENST00000361265.4_Missense_Mutation_p.N433S|AJUBA_ENST00000397388.3_Missense_Mutation_p.N16S	p.N433S	NM_032876.4	NP_116265.1	Q96IF1	JUB_HUMAN			5	1673	-			433			LIM zinc-binding 2.		A8MX18|D3DS37	Missense_Mutation	SNP	ENST00000262713.2	37	c.1298A>G	CCDS9581.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	T	13.78	2.339950	0.41398	.	.	ENSG00000129474	ENST00000262713;ENST00000397388;ENST00000361265;ENST00000553592;ENST00000556731;ENST00000553911	D;D;D;D;D;D	0.87491	-2.26;-2.19;-2.26;-2.19;-2.19;-2.2	5.91	5.91	0.95273	Zinc finger, LIM-type (4);	0.133966	0.52532	D	0.000068	D	0.82669	0.5087	L	0.37750	1.13	0.41474	D	0.988127	B	0.18013	0.025	B	0.28385	0.089	T	0.77651	-0.2508	10	0.25751	T	0.34	.	14.3004	0.66346	0.0:0.0:0.0:1.0	.	433	Q96IF1	JUB_HUMAN	S	433;16;433;16;16;16	ENSP00000262713:N433S;ENSP00000380543:N16S;ENSP00000354491:N433S;ENSP00000452369:N16S;ENSP00000451649:N16S;ENSP00000452325:N16S	ENSP00000262713:N433S	N	-	2	0	JUB	22514095	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.556000	0.60775	2.254000	0.74563	0.533000	0.62120	AAC		0.522	AJUBA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071685.2			20	80	0	0	0	1	0	20	80					C	23444255	T	C	23444255	3	2	305	1	0	0	0	0	1	0	0	0	7968	1725	60	4	334	4	JUB	14	23444255	Missense_Mutation	SNP	T	TCGA-KK-A59V-01A-11D-A29Q-08	1567569	23444255	83905285	731	15248											
MYH7	4625	broad.mit.edu	37	chr14	23884341	23884341	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cttctgcagctgcttcttgcCgcccttgagggcgatctgct	3	13	11	14	2	3	1	0	1	3	0	3	2	3	1	2	1	5	4	2	1	0	4	rs369940645		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr14:23884341C>T	ENST00000355349.3	-	37	5584	c.5422G>A	c.(5422-5424)Ggc>Agc	p.G1808S	MIR208B_ENST00000401172.1_RNA|CTD-2201G16.1_ENST00000557368.1_RNA	NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	1808					adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|myosin complex (GO:0016459)|myosin filament (GO:0032982)|nucleus (GO:0005634)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		TGCTTCTTGCCGCCCTTGAGG	0.622																																						ENST00000355349.3																			0				NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137						c.(5422-5424)Ggc>Agc		myosin, heavy chain 7, cardiac muscle, beta		C	SER/GLY	1,4405	2.1+/-5.4	0,1,2202	76	77	76		5422	5.3	1	14		76	0,8600		0,0,4300	no	missense	MYH7	NM_000257.2	56	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	1808/1936	23884341	1,13005	2203	4300	6503	SO:0001583	missense	4625				adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr14:23884341C>T	M58018	CCDS9601.1	14q11.2-q13	2014-09-17	2006-09-29		ENSG00000092054	ENSG00000092054		"Myosins / Myosin superfamily : Class II"	7577	protein-coding gene	gene with protein product		160760	"myopathy, distal 1", "myosin, heavy polypeptide 7, cardiac muscle, beta"	CMH1, MPD1		2494889, 8483915, 15322983	Standard	XM_005267696		Approved	CMD1S	uc001wjx.3	P12883	OTTHUMG00000028755	ENST00000355349.3:c.5422G>A	14.37:g.23884341C>T	ENSP00000347507:p.Gly1808Ser						p.G1808S	NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN		GBM - Glioblastoma multiforme(265;0.00725)	37	5584	-	all_cancers(95;2.54e-05)		1808					A2TDB6|B6D424|Q14836|Q14837|Q14904|Q16579|Q2M1Y6|Q92679|Q9H1D5|Q9UDA2|Q9UMM8	Missense_Mutation	SNP	ENST00000355349.3	37	c.5422G>A	CCDS9601.1	.	.	.	.	.	.	.	.	.	.	C	26.1	4.701261	0.88924	2.27E-4	0.0	ENSG00000092054	ENST00000355349;ENST00000544444	T	0.80480	-1.38	5.27	5.27	0.74061	Myosin tail (1);	.	.	.	.	D	0.91153	0.7214	M	0.86953	2.85	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.91092	0.4907	9	0.48119	T	0.1	.	19.075	0.93158	0.0:1.0:0.0:0.0	.	1808	P12883	MYH7_HUMAN	S	1808;1813	ENSP00000347507:G1808S	ENSP00000347507:G1808S	G	-	1	0	MYH7	22954181	1.000000	0.71417	0.998000	0.56505	0.993000	0.82548	5.764000	0.68826	2.750000	0.94351	0.563000	0.77884	GGC		0.622	MYH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071798.3	NM_000257		44	110	0	0	0	1	0	44	110					T	23884341	C	T	23884341	3	4	305	1	0	0	0	0	1	0	0	0	10039	652	23	2	401	2	MYH7	14	23884341	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	440086	23884341	83465199	732	15249											
CPNE6	9362	broad.mit.edu	37	chr14	24542775	24542776	+	Frame_Shift_Ins	INS	-	-	T																															cgggtgctggcccttgagtaINStttttttgaggagaagcagc																										TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr14:24542775_24542776insT	ENST00000397016.2	+	4	547_548	c.236_237insT	c.(235-240)tattttfs	p.YF79fs	CPNE6_ENST00000537691.1_Frame_Shift_Ins_p.YF134fs|CPNE6_ENST00000216775.2_Frame_Shift_Ins_p.YF79fs|CPNE6_ENST00000560092.1_3'UTR	NM_001280558.1	NP_001267487.1	O95741	CPNE6_HUMAN	copine VI (neuronal)	79	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.				lipid metabolic process (GO:0006629)|nervous system development (GO:0007399)|synaptic transmission (GO:0007268)|vesicle-mediated transport (GO:0016192)	axon (GO:0030424)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|phosphatidylserine binding (GO:0001786)|transporter activity (GO:0005215)			endometrium(4)|large_intestine(3)|liver(2)|lung(5)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	22				GBM - Glioblastoma multiforme(265;0.0184)		GCCCTTGAGTATTTTTTTGAGG	0.594																																						ENST00000397016.2																			0				endometrium(4)|large_intestine(3)|liver(2)|lung(5)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	22						c.(235-237)tttfs		copine VI (neuronal)																																				SO:0001589	frameshift_variant	9362				lipid metabolic process|nervous system development|synaptic transmission|vesicle-mediated transport		calcium ion binding|transporter activity	g.chr14:24542775_24542776insT	AB009288	CCDS9607.1, CCDS61413.1	14q11.2	2008-07-09			ENSG00000100884	ENSG00000100884			2319	protein-coding gene	gene with protein product		605688				9645480	Standard	NM_001280558		Approved		uc001wll.3	O95741	OTTHUMG00000028781	ENST00000397016.2:c.243dupT	14.37:g.24542782_24542782dupT	ENSP00000380211:p.Tyr79fs					CPNE6_ENST00000216775.2_Frame_Shift_Ins_p.F79fs|CPNE6_ENST00000560092.1_3'UTR|CPNE6_ENST00000537691.1_Frame_Shift_Ins_p.F134fs	p.F79fs			O95741	CPNE6_HUMAN		GBM - Glioblastoma multiforme(265;0.0184)	4	547_548	+			79			C2 1.		B2RAG6|B7Z1M3|D3DS55|F5GXN1|Q53HA6|Q8WVG1	Frame_Shift_Ins	INS	ENST00000397016.2	37	c.236_237insT	CCDS9607.1																																																																																				0.594	CPNE6-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071869.5			35	92						35	92	---	---	---	---	T	24542776	-	T	24542775	7	5	305	1	0	1	1	0	0	0	0	0	3816	449	16	0	242	0	CPNE6	14	24542775	Frame_Shift_Ins	INS	-	TCGA-KK-A59V-01A-11D-A29Q-08	658434	24542775	82806765	733	15250											
PCK2	5106	broad.mit.edu	37	chr14	24566322	24566322	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggagcagcagggcctcatccGaaagctccccaagtacaata	13	5	10	13	1	1	0	1	0	0	0	3	2	3	1	4	2	4	4	4	2	5	2	rs112490159		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr14:24566322G>A	ENST00000216780.4	+	2	519	c.251G>A	c.(250-252)cGa>cAa	p.R84Q	NRL_ENST00000396997.1_5'Flank|PCK2_ENST00000561286.1_Intron|PCK2_ENST00000545054.2_5'UTR|PCK2_ENST00000559250.1_Missense_Mutation_p.R96Q|NRL_ENST00000561028.1_Intron|PCK2_ENST00000558096.1_5'UTR|PCK2_ENST00000396973.4_Missense_Mutation_p.R84Q	NM_004563.2	NP_004554.2	Q16822	PCKGM_HUMAN	phosphoenolpyruvate carboxykinase 2 (mitochondrial)	84					carbohydrate metabolic process (GO:0005975)|cellular response to glucose stimulus (GO:0071333)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|NADH oxidation (GO:0006116)|oxaloacetate metabolic process (GO:0006107)|positive regulation of insulin secretion (GO:0032024)|pyruvate metabolic process (GO:0006090)|response to glucocorticoid (GO:0051384)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)|metal ion binding (GO:0046872)|phosphoenolpyruvate carboxykinase (GTP) activity (GO:0004613)|phosphoenolpyruvate carboxykinase activity (GO:0004611)			breast(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	18				GBM - Glioblastoma multiforme(265;0.0184)		GGCCTCATCCGAAAGCTCCCC	0.547																																						ENST00000216780.4																			0				breast(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	18						c.(250-252)cGa>cAa		phosphoenolpyruvate carboxykinase 2 (mitochondrial)							67	65	66					14																	24566322		2203	4300	6503	SO:0001583	missense	5106				gluconeogenesis	mitochondrial matrix	GTP binding|metal ion binding|phosphoenolpyruvate carboxykinase (GTP) activity	g.chr14:24566322G>A	AK129934	CCDS9609.1, CCDS41928.1	14q12	2006-06-09			ENSG00000100889	ENSG00000100889	4.1.1.32		8725	protein-coding gene	gene with protein product		614095				8645161, 9657976	Standard	XM_005267726		Approved	PEPCK, PEPCK2	uc001wlt.3	Q16822	OTTHUMG00000028791	ENST00000216780.4:c.251G>A	14.37:g.24566322G>A	ENSP00000216780:p.Arg84Gln					PCK2_ENST00000559250.1_Missense_Mutation_p.R96Q|PCK2_ENST00000561286.1_Intron|NRL_ENST00000561028.1_Intron|PCK2_ENST00000396973.4_Missense_Mutation_p.R84Q|PCK2_ENST00000558096.1_5'UTR|PCK2_ENST00000545054.2_5'UTR	p.R84Q	NM_004563.2	NP_004554.2	Q16822	PCKGM_HUMAN		GBM - Glioblastoma multiforme(265;0.0184)	2	519	+			84					O43253|Q86U01|Q9BV62	Missense_Mutation	SNP	ENST00000216780.4	37	c.251G>A	CCDS9609.1	.	.	.	.	.	.	.	.	.	.	G	14.35	2.508760	0.44660	.	.	ENSG00000100889	ENST00000216780;ENST00000396973	T;T	0.11277	2.79;2.79	5.52	4.63	0.57726	Phosphoenolpyruvate carboxykinase, N-terminal (2);	0.199092	0.43747	D	0.000528	T	0.05044	0.0135	N	0.05383	-0.06	0.80722	D	1	B;B;B	0.21821	0.008;0.061;0.008	B;B;B	0.14578	0.011;0.006;0.011	T	0.41538	-0.9503	10	0.18276	T	0.48	-4.2763	8.5626	0.33520	0.1745:0.0:0.8255:0.0	.	84;84;84	Q16822;Q16822-2;Q6IB91	PCKGM_HUMAN;.;.	Q	84	ENSP00000216780:R84Q;ENSP00000380171:R84Q	ENSP00000216780:R84Q	R	+	2	0	PCK2	23636162	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	5.966000	0.70395	1.452000	0.47756	0.650000	0.86243	CGA		0.547	PCK2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071900.3	NM_001018073		24	53	0	0	0	1	0	24	53					A	24566322	G	A	24566322	3	1	305	1	0	0	0	0	1	0	0	0	11582	1058	37	2	257	2	PCK2	14	24566322	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	23547	24566322	82783218	734	15251											
RNF31	55072	broad.mit.edu	37	chr14	24619809	24619809	+	Frame_Shift_Del	DEL	G	G	-																															ttctctctgccttcccagcaGggggatgctttgctggcctc																										TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr14:24619809delG	ENST00000324103.6	+	8	1520	c.1200delG	c.(1198-1200)cagfs	p.Q400fs	RNF31_ENST00000382687.3_Frame_Shift_Del_p.Q249fs|RP11-468E2.4_ENST00000558468.1_5'Flank|RNF31_ENST00000559275.1_Frame_Shift_Del_p.Q249fs	NM_017999.4	NP_060469.4	Q96EP0	RNF31_HUMAN	ring finger protein 31	400	Polyubiquitin-binding.				CD40 signaling pathway (GO:0023035)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein linear polyubiquitination (GO:0097039)|protein polyubiquitination (GO:0000209)|T cell receptor signaling pathway (GO:0050852)	CD40 receptor complex (GO:0035631)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|LUBAC complex (GO:0071797)	ligase activity (GO:0016874)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|prostate(4)|skin(2)|soft_tissue(1)	39				GBM - Glioblastoma multiforme(265;0.00861)		CTTCCCAGCAGGGGGATGCTT	0.517																																						ENST00000324103.6																			0				breast(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|prostate(4)|skin(2)|soft_tissue(1)	39						c.(1198-1200)cafs		ring finger protein 31							165	169	167					14																	24619809		1947	4146	6093	SO:0001589	frameshift_variant	55072				CD40 signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protein linear polyubiquitination|T cell receptor signaling pathway	CD40 receptor complex|internal side of plasma membrane|LUBAC complex	ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr14:24619809delG	AK000973	CCDS41931.1	14q11.2	2012-09-20			ENSG00000092098	ENSG00000092098		"RING-type (C3HC4) zinc fingers"	16031	protein-coding gene	gene with protein product	"HOIL-1-interacting protein"	612487				10422847	Standard	NM_017999		Approved	ZIBRA, FLJ10111, FLJ23501, HOIP	uc001wmn.1	Q96EP0	OTTHUMG00000028798	ENST00000324103.6:c.1200delG	14.37:g.24619809delG	ENSP00000315112:p.Gln400fs					RNF31_ENST00000559275.1_Frame_Shift_Del_p.Q249fs|RNF31_ENST00000382687.3_Frame_Shift_Del_p.Q249fs	p.Q400fs	NM_017999.4	NP_060469.4	Q96EP0	RNF31_HUMAN		GBM - Glioblastoma multiforme(265;0.00861)	8	1520	+			400			Polyubiquitin-binding.		A0A962|Q86VI2|Q8TEI0|Q96GB4|Q96NF1|Q9H5F1|Q9NWD2	Frame_Shift_Del	DEL	ENST00000324103.6	37	c.1200delG	CCDS41931.1																																																																																				0.517	RNF31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071921.3	NM_017999		64	162						64	162	---	---	---	---	-	24619809	G	-	24619809	7	5	305	1	0	1	0	1	0	0	0	0	13487	991	35	0	1230	0	RNF31	14	24619809	Frame_Shift_Del	DEL	G	TCGA-KK-A59V-01A-11D-A29Q-08	53487	24619809	82729731	735	15252											
DHRS1	115817	broad.mit.edu	37	chr14	24760345	24760345	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctgtgccagggtcctcacCgtccacatcccgaaggccat	7	8	10	16	2	1	0	1	0	0	0	4	1	4	0	6	2	2	1	6	2	1	0			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr14:24760345C>T	ENST00000288111.7	-	8	1081	c.805G>A	c.(805-807)Ggc>Agc	p.G269S	DHRS1_ENST00000559088.1_5'UTR|DHRS1_ENST00000396813.1_Splice_Site_p.G269S	NM_001136050.2	NP_001129522.1	Q96LJ7	DHRS1_HUMAN	dehydrogenase/reductase (SDR family) member 1	269						endoplasmic reticulum (GO:0005783)|mitochondrial inner membrane (GO:0005743)	oxidoreductase activity (GO:0016491)			cervix(1)|endometrium(1)|large_intestine(2)|lung(2)	6				GBM - Glioblastoma multiforme(265;2.81e-08)|OV - Ovarian serous cystadenocarcinoma(311;0.0442)		GGGTCCTCACCGTCCACATCC	0.597																																						ENST00000288111.7																			0				cervix(1)|endometrium(1)|large_intestine(2)|lung(2)	6						c.e8+1		dehydrogenase/reductase (SDR family) member 1							99	82	88					14																	24760345		2203	4300	6503	SO:0001630	splice_region_variant	115817					endoplasmic reticulum	binding|oxidoreductase activity	g.chr14:24760345C>T	AK058159	CCDS9623.1	14q11.2	2011-09-14			ENSG00000157379	ENSG00000157379	1.1.-.-	"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"	16445	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 19C, member 1"	610410				12153138, 19027726	Standard	NM_138452		Approved	FLJ25430, MGC20204, SDR19C1	uc001wok.3	Q96LJ7	OTTHUMG00000029333	ENST00000288111.7:c.805+1G>A	14.37:g.24760345C>T						DHRS1_ENST00000396813.1_Splice_Site_p.G269_splice|DHRS1_ENST00000559088.1_5'UTR	p.G269_splice	NM_001136050.2	NP_001129522.1	Q96LJ7	DHRS1_HUMAN		GBM - Glioblastoma multiforme(265;2.81e-08)|OV - Ovarian serous cystadenocarcinoma(311;0.0442)	8	1081	-			269					D3DS71|Q8NDG3|Q96B59|Q96CQ5	Splice_Site	SNP	ENST00000288111.7	37	c.805_splice	CCDS9623.1	.	.	.	.	.	.	.	.	.	.	C	25.4	4.631939	0.87660	.	.	ENSG00000157379	ENST00000288111;ENST00000396813	D;D	0.86865	-2.18;-2.18	5.24	5.24	0.73138	.	0.000000	0.85682	D	0.000000	D	0.95127	0.8421	H	0.94620	3.56	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.96159	0.9114	9	.	.	.	-17.5333	14.3229	0.66499	0.0:1.0:0.0:0.0	.	269	Q96LJ7	DHRS1_HUMAN	S	269	ENSP00000288111:G269S;ENSP00000380027:G269S	.	G	-	1	0	DHRS1	23830185	1.000000	0.71417	1.000000	0.80357	0.530000	0.34684	6.275000	0.72594	2.427000	0.82271	0.467000	0.42956	GGC		0.597	DHRS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073168.4	NM_138452	Missense_Mutation	8	32	0	0	0	1	0	8	32					T	24760345	C	T	24760345	5	4	305	1	0	0	0	0	0	0	1	0	4486	666	23	2	144	2	DHRS1	14	24760345	Splice_Site	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	140536	24760345	82589195	736	15253											
STXBP6	29091	broad.mit.edu	37	chr14	25443930	25443931	+	Frame_Shift_Del	DEL	TT	TT	-																															cagttgccaagaaaggaatcTttttctttgtcctcctcttg																										TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr14:25443930_25443931delTT	ENST00000323944.5	-	2	545_546	c.94_95delAA	c.(94-96)aagfs	p.K32fs	STXBP6_ENST00000396700.1_Frame_Shift_Del_p.K32fs|STXBP6_ENST00000358326.2_Frame_Shift_Del_p.K32fs|STXBP6_ENST00000548724.1_Frame_Shift_Del_p.K32fs|STXBP6_ENST00000550887.1_Frame_Shift_Del_p.K32fs|STXBP6_ENST00000546511.1_Frame_Shift_Del_p.K32fs|STXBP6_ENST00000419632.2_Frame_Shift_Del_p.K32fs			Q8NFX7	STXB6_HUMAN	syntaxin binding protein 6 (amisyn)	32					negative regulation of exocytosis (GO:0045920)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)				central_nervous_system(2)|endometrium(2)|large_intestine(3)	7				GBM - Glioblastoma multiforme(265;0.0296)		GAAAGGAATCTTTTTCTTTGTC	0.381																																						ENST00000323944.5																			0				central_nervous_system(2)|endometrium(2)|large_intestine(3)	7						c.(94-96)gfs		syntaxin binding protein 6 (amisyn)																																				SO:0001589	frameshift_variant	0				vesicle-mediated transport	cytoplasm|integral to membrane		g.chr14:25443930_25443931delTT	AF161505	CCDS9634.1	14q11.2	2002-12-18			ENSG00000168952	ENSG00000168952			19666	protein-coding gene	gene with protein product		607958				12145319	Standard	NM_014178		Approved	amisyn, HSPC156	uc001wpu.3	Q8NFX7	OTTHUMG00000140186	ENST00000323944.5:c.94_95delAA	14.37:g.25443932_25443933delTT	ENSP00000324302:p.Lys32fs					STXBP6_ENST00000396700.1_Frame_Shift_Del_p.K32fs|STXBP6_ENST00000550887.1_Frame_Shift_Del_p.K32fs|STXBP6_ENST00000419632.2_Frame_Shift_Del_p.K32fs|STXBP6_ENST00000358326.2_Frame_Shift_Del_p.K32fs|STXBP6_ENST00000546511.1_Frame_Shift_Del_p.K32fs|STXBP6_ENST00000548724.1_Frame_Shift_Del_p.K32fs	p.K32fs			Q8NFX7	STXB6_HUMAN		GBM - Glioblastoma multiforme(265;0.0296)	2	545_546	-			32					D3DS78|Q8N3H1|Q8N8D5|Q96GF3|Q9P008	Frame_Shift_Del	DEL	ENST00000323944.5	37	c.94_95delAA	CCDS9634.1																																																																																				0.381	STXBP6-006	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000409166.1			3	3						3	3	---	---	---	---	-	25443931	TT	-	25443930	7	5	305	1	0	1	0	1	0	0	0	0	15357	1609	56	0	557	0	STXBP6	14	25443930	Frame_Shift_Del	DEL	TT	TCGA-KK-A59V-01A-11D-A29Q-08	683585	25443930	81905610	737	15254											
NUBPL	80224	broad.mit.edu	37	chr14	32142777	32142777	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gccattgagaaattgttgagGcaggtaagaatattgcttta	13	13	11	4	0	0	3	0	2	0	2	0	4	0	3	1	2	1	4	1	2	5	8			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr14:32142777G>A	ENST00000281081.7	+	6	555	c.510G>A	c.(508-510)agG>agA	p.R170R	NUBPL_ENST00000536705.1_Silent_p.R74R	NM_001201573.1|NM_001201574.1|NM_025152.2	NP_001188502.1|NP_001188503.1|NP_079428.2	Q8TB37	NUBPL_HUMAN	nucleotide binding protein-like	170					mitochondrial respiratory chain complex I assembly (GO:0032981)|mitochondrion morphogenesis (GO:0070584)	mitochondrion (GO:0005739)	4 iron, 4 sulfur cluster binding (GO:0051539)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)			endometrium(1)|lung(2)|prostate(1)|skin(1)	5	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.214)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0677)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.0102)		AATTGTTGAGGCAGGTAAGAA	0.368																																						ENST00000281081.7																			0				endometrium(1)|lung(2)|prostate(1)|skin(1)	5						c.(508-510)agG>agA		nucleotide binding protein-like							104	92	96					14																	32142777		1833	4083	5916	SO:0001819	synonymous_variant	80224				mitochondrial respiratory chain complex I assembly|mitochondrion morphogenesis	mitochondrion	4 iron, 4 sulfur cluster binding|ATP binding|metal ion binding	g.chr14:32142777G>A	AK022722	CCDS41940.1	14q12	2012-10-12	2005-01-07	2005-01-07	ENSG00000151413	ENSG00000151413		"Mitochondrial respiratory chain complex assembly factors"	20278	protein-coding gene	gene with protein product	"iron-sulfur protein required for NADH dehydrogenase"	613621	"chromosome 14 open reading frame 127"	C14orf127			Standard	NM_025152		Approved	FLJ12660, IND1, huInd1	uc001wrk.4	Q8TB37	OTTHUMG00000170521	ENST00000281081.7:c.510G>A	14.37:g.32142777G>A						NUBPL_ENST00000536705.1_Silent_p.R74R	p.R170R	NM_001201573.1|NM_001201574.1|NM_025152.2	NP_001188502.1|NP_001188503.1|NP_079428.2	Q8TB37	NUBPL_HUMAN	LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0677)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.0102)	6	555	+	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.214)		170					B4DHZ1|Q86TZ4|Q9H9M2	Silent	SNP	ENST00000281081.7	37	c.510G>A	CCDS41940.1																																																																																				0.368	NUBPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409519.1	NM_025152		5	67	0	0	0	1	0	5	67					A	32142777	G	A	32142777	2	1	305	1	0	0	0	0	0	0	0	1	10717	1194	42	3		3	NUBPL	14	32142777	Silent	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	6698847	32142777	75206763	738	15255											
FSCB	84075	broad.mit.edu	37	chr14	44974420	44974420	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgctagaagctgaattgcagCagaggcctcttctgcagtgg	9	10	13	9	0	2	3	0	1	2	2	2	3	2	3	1	2	5	5	1	2	3	3			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr14:44974420C>T	ENST00000340446.4	-	1	2062	c.1771G>A	c.(1771-1773)Gct>Act	p.A591T	RP11-163M18.1_ENST00000555433.1_RNA|RP11-163M18.1_ENST00000557465.1_RNA	NM_032135.3	NP_115511.3	Q5H9T9	FSCB_HUMAN	fibrous sheath CABYR binding protein	591	Ala-rich.					sperm fibrous sheath (GO:0035686)|sperm principal piece (GO:0097228)	calcium ion binding (GO:0005509)			breast(4)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(47)|ovary(2)|pancreas(1)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	89				GBM - Glioblastoma multiforme(112;0.128)		TGAATTGCAGCAGAGGCCTCT	0.547																																						ENST00000340446.4																			0				breast(4)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(47)|ovary(2)|pancreas(1)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	89						c.(1771-1773)Gct>Act		fibrous sheath CABYR binding protein							24	26	26					14																	44974420		2203	4300	6503	SO:0001583	missense	84075					cilium		g.chr14:44974420C>T	AK124110	CCDS9679.1	14q21.3	2007-11-22	2007-11-22	2007-11-22	ENSG00000189139	ENSG00000189139			20494	protein-coding gene	gene with protein product		611779	"chromosome 14 open reading frame 155"	C14orf155		17855365	Standard	NM_032135		Approved	DKFZP434F1017	uc001wvn.3	Q5H9T9	OTTHUMG00000140262	ENST00000340446.4:c.1771G>A	14.37:g.44974420C>T	ENSP00000344579:p.Ala591Thr						p.A591T	NM_032135.3	NP_115511.3	Q5H9T9	FSCB_HUMAN		GBM - Glioblastoma multiforme(112;0.128)	1	2062	-			591			Ala-rich.		Q5H9U7|Q86YI2|Q9H0J3	Missense_Mutation	SNP	ENST00000340446.4	37	c.1771G>A	CCDS9679.1	.	.	.	.	.	.	.	.	.	.	C	13.83	2.355204	0.41700	.	.	ENSG00000189139	ENST00000340446	T	0.13089	2.62	5.33	-0.683	0.11335	.	.	.	.	.	T	0.07234	0.0183	L	0.29908	0.895	0.09310	N	1	B	0.25169	0.119	B	0.17722	0.019	T	0.42413	-0.9453	9	0.14252	T	0.57	-0.9476	3.8478	0.08942	0.2723:0.4463:0.0:0.2813	.	591	Q5H9T9	FSCB_HUMAN	T	591	ENSP00000344579:A591T	ENSP00000344579:A591T	A	-	1	0	FSCB	44044170	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.457000	0.06745	-0.033000	0.13736	0.650000	0.86243	GCT		0.547	FSCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276788.1	NM_032135		17	38	0	0	0	1	0	17	38					T	44974420	C	T	44974420	3	4	305	1	0	0	0	0	1	0	0	0	6066	710	25	3	710	3	FSCB	14	44974420	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	12831643	44974420	62375120	739	15256											
FAM179B	23116	broad.mit.edu	37	chr14	45513865	45513865	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atttacgttctggagtttctCgtgctgctgtggtctgttta	4	19	11	7	2	3	0	0	0	3	0	4	1	3	1	0	2	3	5	0	2	2	6			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr14:45513865C>T	ENST00000361577.3	+	13	4160	c.3946C>T	c.(3946-3948)Cgt>Tgt	p.R1316C	KLHL28_ENST00000553817.1_5'Flank|FAM179B_ENST00000382233.2_3'UTR|FAM179B_ENST00000361462.2_Missense_Mutation_p.R1316C	NM_015091.2	NP_055906.2	Q9Y4F4	F179B_HUMAN	family with sequence similarity 179, member B	1316										endometrium(4)|kidney(5)|large_intestine(12)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	45						TGGAGTTTCTCGTGCTGCTGT	0.338																																						ENST00000361462.2																			0				endometrium(4)|kidney(5)|large_intestine(12)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	45						c.(3946-3948)Cgt>Tgt		family with sequence similarity 179, member B							75	75	75					14																	45513865		2203	4300	6503	SO:0001583	missense	23116						binding	g.chr14:45513865C>T	AB007883	CCDS9681.1	14q21.3	2008-07-21	2008-07-21	2008-07-21	ENSG00000198718	ENSG00000198718			19959	protein-coding gene	gene with protein product			"KIAA0423"	KIAA0423			Standard	XM_005267451		Approved		uc001wvv.3	Q9Y4F4	OTTHUMG00000140264	ENST00000361577.3:c.3946C>T	14.37:g.45513865C>T	ENSP00000355045:p.Arg1316Cys					FAM179B_ENST00000361577.3_Missense_Mutation_p.R1316C|FAM179B_ENST00000382233.2_3'UTR	p.R1316C			Q9Y4F4	F179B_HUMAN			13	4129	+			1316					Q68D66|Q6PG27	Missense_Mutation	SNP	ENST00000361577.3	37	c.3946C>T	CCDS9681.1	.	.	.	.	.	.	.	.	.	.	C	24.8	4.570368	0.86542	.	.	ENSG00000198718	ENST00000361577;ENST00000361462	T;T	0.16743	2.32;2.32	5.78	5.78	0.91487	Armadillo-like helical (1);Armadillo-type fold (1);	0.054165	0.64402	D	0.000001	T	0.38612	0.1047	M	0.70275	2.135	0.80722	D	1	D;D	0.62365	0.986;0.991	P;P	0.56163	0.793;0.793	T	0.09552	-1.0669	10	0.72032	D	0.01	-13.2581	19.6126	0.95616	0.0:1.0:0.0:0.0	.	1316;1316	G3XAE9;Q9Y4F4	.;F179B_HUMAN	C	1316	ENSP00000355045:R1316C;ENSP00000354917:R1316C	ENSP00000354917:R1316C	R	+	1	0	FAM179B	44583615	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.871000	0.69628	2.730000	0.93505	0.650000	0.86243	CGT		0.338	FAM179B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000276791.1	XM_113781		11	40	0	0	0	1	0	11	40					T	45513865	C	T	45513865	3	4	305	1	0	0	0	0	1	0	0	0	5506	884	31	2	3996	2	FAM179B	14	45513865	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	539445	45513865	61835675	740	15257											
DDHD1	80821	broad.mit.edu	37	chr14	53518597	53518597	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tattctgcattacattttccGgaaaaagaagttgtgggaga	13	13	10	5	1	1	2	0	0	1	2	2	4	2	3	1	2	2	2	1	2	5	6			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr14:53518597G>A	ENST00000323669.5	-	12	2485	c.2486C>T	c.(2485-2487)cCg>cTg	p.P829L	DDHD1_ENST00000555621.1_Intron|DDHD1_ENST00000357758.3_Intron|DDHD1_ENST00000395606.1_Intron	NM_001160148.1	NP_001153620.1	Q8NEL9	DDHD1_HUMAN	DDHD domain containing 1	829	DDHD. {ECO:0000255|PROSITE- ProRule:PRU00378}.				cell death (GO:0008219)|lipid catabolic process (GO:0016042)	cytoplasm (GO:0005737)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)	25	Breast(41;0.037)					TACATTTTCCGGAAAAAGAAG	0.338																																						ENST00000323669.5																			0				breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)	25						c.(2485-2487)cCg>cTg		DDHD domain containing 1							76	66	69					14																	53518597		1564	3580	5144	SO:0001583	missense	0				lipid catabolic process	cytoplasm	hydrolase activity|metal ion binding	g.chr14:53518597G>A	AB051492	CCDS9714.1, CCDS53895.1, CCDS53896.1	14q21	2012-11-23			ENSG00000100523	ENSG00000100523			19714	protein-coding gene	gene with protein product	"phosphatidic acid-preferring phospholipase A1"	614603	"spastic paraplegia 28 (autosomal recessive)"	SPG28		11214970, 20359546	Standard	NM_030637		Approved	KIAA1705, PA-PLA1	uc001xai.3	Q8NEL9	OTTHUMG00000140305	ENST00000323669.5:c.2486C>T	14.37:g.53518597G>A	ENSP00000327104:p.Pro829Leu					DDHD1_ENST00000395606.1_Intron|DDHD1_ENST00000555621.1_Intron|DDHD1_ENST00000357758.3_Intron	p.P829L	NM_001160148.1	NP_001153620.1	Q8NEL9	DDHD1_HUMAN			12	2485	-	Breast(41;0.037)		829			DDHD.		G5E9D1|Q8WVH3|Q96LL2|Q9C0F8	Missense_Mutation	SNP	ENST00000323669.5	37	c.2486C>T	CCDS53895.1	.	.	.	.	.	.	.	.	.	.	G	24.8	4.571394	0.86542	.	.	ENSG00000100523	ENST00000323669;ENST00000395610	.	.	.	6.07	6.07	0.98685	DDHD (2);	0.228602	0.35838	N	0.002945	T	0.59702	0.2213	N	0.12182	0.205	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.57985	-0.7716	9	0.26408	T	0.33	-13.6586	16.1594	0.81686	0.0:0.0:1.0:0.0	.	829	Q8NEL9	DDHD1_HUMAN	L	829;700	.	ENSP00000327104:P829L	P	-	2	0	DDHD1	52588347	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.904000	0.48719	2.885000	0.99019	0.655000	0.94253	CCG		0.338	DDHD1-003	KNOWN	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000276901.1			5	11	0	0	0	1	0	5	11					A	53518597	G	A	53518597	3	1	305	1	0	0	0	0	1	0	0	0	4326	1116	39	2	224	2	DDHD1	14	53518597	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	8004732	53518597	53830943	741	15258											
WDHD1	11169	broad.mit.edu	37	chr14	55433311	55433311	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggttgtgaaatataactgaaCgccaaaattgctcctataaa	16	11	7	7	1	0	2	0	2	0	0	1	2	1	2	2	1	3	2	2	1	9	6	rs145612447		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr14:55433311C>T	ENST00000360586.3	-	18	2257	c.2192G>A	c.(2191-2193)cGt>cAt	p.R731H	WDHD1_ENST00000420358.2_Missense_Mutation_p.R608H|WDHD1_ENST00000421192.1_Missense_Mutation_p.R608H|WDHD1_ENST00000359167.4_Missense_Mutation_p.R249H	NM_007086.3	NP_009017.1	O75717	WDHD1_HUMAN	WD repeat and HMG-box DNA binding protein 1	731					heterochromatin maintenance (GO:0070829)|regulation of chromosome organization (GO:0033044)|RNA processing (GO:0006396)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|RNA binding (GO:0003723)			breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(2)	42						TATAACTGAACGCCAAAATTG	0.313																																						ENST00000360586.3																			0				breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(2)	42						c.(2191-2193)cGt>cAt		WD repeat and HMG-box DNA binding protein 1		C	HIS/ARG,HIS/ARG	1,4399	2.1+/-5.4	0,1,2199	84	75	78		1823,2192	2.8	0.9	14	dbSNP_134	78	0,8590		0,0,4295	no	missense,missense	WDHD1	NM_001008396.2,NM_007086.3	29,29	0,1,6494	TT,TC,CC		0.0,0.0227,0.0077	possibly-damaging,possibly-damaging	608/1007,731/1130	55433311	1,12989	2200	4295	6495	SO:0001583	missense	11169					cytoplasm|nucleoplasm	DNA binding	g.chr14:55433311C>T	AJ006266	CCDS9721.1, CCDS41955.1	14q22.2	2013-01-09			ENSG00000198554	ENSG00000198554		"WD repeat domain containing"	23170	protein-coding gene	gene with protein product	"CTF4, chromosome transmission fidelity factor 4 homolog (S. cerevisiae)"	608126				9175701, 20028748	Standard	NM_007086		Approved	AND-1, CTF4, CHTF4	uc001xbm.2	O75717	OTTHUMG00000140304	ENST00000360586.3:c.2192G>A	14.37:g.55433311C>T	ENSP00000353793:p.Arg731His					WDHD1_ENST00000421192.1_Missense_Mutation_p.R608H|WDHD1_ENST00000359167.4_Missense_Mutation_p.R249H|WDHD1_ENST00000420358.2_Missense_Mutation_p.R608H	p.R731H	NM_007086.3	NP_009017.1	O75717	WDHD1_HUMAN			18	2257	-			731					C9JW18|F6W0U7	Missense_Mutation	SNP	ENST00000360586.3	37	c.2192G>A	CCDS9721.1	.	.	.	.	.	.	.	.	.	.	C	14.58	2.576608	0.45902	2.27E-4	0.0	ENSG00000198554	ENST00000360586;ENST00000359167;ENST00000421192	T;T;T	0.70516	-0.09;0.44;-0.49	5.63	2.81	0.32909	.	0.109437	0.64402	N	0.000005	T	0.71091	0.3299	M	0.87180	2.865	0.58432	D	0.999999	P;P	0.52692	0.955;0.678	B;B	0.40940	0.344;0.143	T	0.71626	-0.4536	10	0.49607	T	0.09	.	10.0057	0.41955	0.0:0.7799:0.0:0.2201	.	249;731	F8W7P7;O75717	.;WDHD1_HUMAN	H	731;249;608	ENSP00000353793:R731H;ENSP00000352085:R249H;ENSP00000391049:R608H	ENSP00000352085:R249H	R	-	2	0	WDHD1	54503061	1.000000	0.71417	0.945000	0.38365	0.652000	0.38707	4.511000	0.60462	0.319000	0.23209	0.591000	0.81541	CGT		0.313	WDHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276897.2	NM_007086		6	16	0	0	0	1	0	6	16					T	55433311	C	T	55433311	3	4	305	1	0	0	0	0	1	0	0	0	17268	536	19	1	1233	1	WDHD1	14	55433311	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	1914714	55433311	51916229	742	15259											
PELI2	57161	broad.mit.edu	37	chr14	56763645	56763645	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gtcccatgtgcaggactgtgGgcccctatgtgcctctctgg	4	11	13	13	0	1	0	0	0	1	0	3	1	2	1	4	3	2	1	4	3	1	1			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr14:56763645G>T	ENST00000267460.4	+	6	1310	c.1024G>T	c.(1024-1026)Ggc>Tgc	p.G342C		NM_021255.2	NP_067078.1	Q9HAT8	PELI2_HUMAN	pellino E3 ubiquitin protein ligase family member 2	342					innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of protein phosphorylation (GO:0001934)|protein ubiquitination (GO:0016567)|Toll signaling pathway (GO:0008063)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)	cytosol (GO:0005829)	ligase activity (GO:0016874)			kidney(6)|large_intestine(3)|lung(11)|ovary(1)|skin(1)	22						CAGGACTGTGGGCCCCTATGT	0.592																																						ENST00000267460.4																			0				kidney(6)|large_intestine(3)|lung(11)|ovary(1)|skin(1)	22						c.(1024-1026)Ggc>Tgc		pellino E3 ubiquitin protein ligase family member 2							110	88	95					14																	56763645		2203	4300	6503	SO:0001583	missense	57161				innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of protein phosphorylation|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol	protein binding	g.chr14:56763645G>T	AF302502	CCDS9726.1	14q21	2012-02-23	2012-02-23		ENSG00000139946	ENSG00000139946		"Pellino homologs"	8828	protein-coding gene	gene with protein product		614798	"pellino (Drosophila) homolog 2", "pellino homolog 2 (Drosophila)"			11306823, 12860405	Standard	XM_006720211		Approved		uc001xch.3	Q9HAT8	OTTHUMG00000152336	ENST00000267460.4:c.1024G>T	14.37:g.56763645G>T	ENSP00000267460:p.Gly342Cys						p.G342C	NM_021255.2	NP_067078.1	Q9HAT8	PELI2_HUMAN			6	1310	+			342					B2RDY5	Missense_Mutation	SNP	ENST00000267460.4	37	c.1024G>T	CCDS9726.1	.	.	.	.	.	.	.	.	.	.	G	28.4	4.920121	0.92249	.	.	ENSG00000139946	ENST00000267460	T	0.55588	0.51	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	T	0.78130	0.4235	M	0.86953	2.85	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.81337	-0.0978	10	0.87932	D	0	-33.4858	19.7628	0.96329	0.0:0.0:1.0:0.0	.	342	Q9HAT8	PELI2_HUMAN	C	342	ENSP00000267460:G342C	ENSP00000267460:G342C	G	+	1	0	PELI2	55833398	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.855000	0.99526	2.672000	0.90937	0.555000	0.69702	GGC		0.592	PELI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276925.1			42	87	1	0	4.14481e-20	1	4.34562e-20	42	87					T	56763645	G	T	56763645	3	4	305	1	0	0	0	0	1	0	0	0	11722	1232	43	5	1046	5	PELI2	14	56763645	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	1330334	56763645	50585895	743	15260											
JKAMP	51528	broad.mit.edu	37	chr14	59965595	59965595	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tacttcttcccaattttaacCgtgcttcaggcagttggtgg	7	15	9	10	1	2	0	1	0	1	0	3	0	3	0	2	3	3	3	2	3	3	7	rs370456734		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr14:59965595C>T	ENST00000261247.9	+	5	756	c.609C>T	c.(607-609)acC>acT	p.T203T	JKAMP_ENST00000425728.2_Silent_p.T197T|RP11-701B16.2_ENST00000554253.1_RNA|JKAMP_ENST00000356057.5_Silent_p.T211T|JKAMP_ENST00000554271.1_Silent_p.T217T	NM_001098625.1|NM_001284203.1|NM_016475.3	NP_001092095.1|NP_001271132.1|NP_057559.2	Q9P055	JKAMP_HUMAN	JNK1/MAPK8-associated membrane protein	218					ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|response to unfolded protein (GO:0006986)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	ubiquitin protein ligase binding (GO:0031625)			breast(1)|endometrium(1)|kidney(1)|lung(3)	6						CAATTTTAACCGTGCTTCAGG	0.358																																						ENST00000554271.1																			0				breast(1)|endometrium(1)|kidney(1)|lung(3)	6						c.(649-651)acC>acT		JNK1/MAPK8-associated membrane protein		C	,	0,3662		0,0,1831	105	94	97		591,609	-10.6	0.7	14		97	1,8185		0,1,4092	no	coding-synonymous,coding-synonymous	JKAMP	NM_001098625.1,NM_016475.3	,	0,1,5923	TT,TC,CC		0.0122,0.0,0.0084	,	197/306,203/312	59965595	1,11847	1831	4093	5924	SO:0001819	synonymous_variant	51528				ER-associated protein catabolic process|response to unfolded protein	endoplasmic reticulum membrane|integral to membrane	ubiquitin protein ligase binding	g.chr14:59965595C>T	AF212245	CCDS45116.1, CCDS45117.1, CCDS61462.1, CCDS61463.1	14q22.3	2014-02-14	2009-08-13	2009-08-13	ENSG00000050130	ENSG00000050130			20184	protein-coding gene	gene with protein product	"Jun N-terminal kinase 1-associated membrane protein"	611176	"chromosome 14 open reading frame 100"	C14orf100		16166642, 19269966	Standard	NM_001284202		Approved	HSPC213, JAMP, HSPC327, CDA06	uc001xef.4	Q9P055	OTTHUMG00000171054	ENST00000261247.9:c.609C>T	14.37:g.59965595C>T						JKAMP_ENST00000425728.2_Silent_p.T197T|RP11-701B16.2_ENST00000554253.1_RNA|JKAMP_ENST00000356057.5_Silent_p.T211T|JKAMP_ENST00000261247.9_Silent_p.T203T	p.T217T			Q9P055	JKAMP_HUMAN			5	1177	+			218					B4DP67|Q6FIB6|Q6IAJ2|Q7Z5D4|Q86SY6|Q9H0Q6|Q9H2W0|Q9HAH5|Q9P0R3	Silent	SNP	ENST00000261247.9	37	c.651C>T	CCDS45116.1																																																																																				0.358	JKAMP-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411430.1	NM_001098625		9	17	0	0	0	1	0	9	17					T	59965595	C	T	59965595	2	4	305	1	0	0	0	0	0	0	0	1	7949	639	23	2		2	JKAMP	14	59965595	Silent	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	3201950	59965595	47383945	744	15261											
SYNE2	23224	broad.mit.edu	37	chr14	64496688	64496688	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gcgtcacagacctgaatactAcattggacaatttctccaag	13	10	7	11	1	2	2	1	1	1	1	3	3	2	3	2	1	2	0	2	1	5	4			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr14:64496688A>G	ENST00000344113.4	+	44	7002	c.6790A>G	c.(6790-6792)Aca>Gca	p.T2264A	SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000554584.1_Missense_Mutation_p.T2264A|SYNE2_ENST00000358025.3_Missense_Mutation_p.T2264A	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	2264					centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		CCTGAATACTACATTGGACAA	0.403																																						ENST00000358025.3																			0				NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224						c.(6790-6792)Aca>Gca		spectrin repeat containing, nuclear envelope 2							83	80	81					14																	64496688		1829	4086	5915	SO:0001583	missense	23224				centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding	g.chr14:64496688A>G	AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"nuclear envelope spectrin repeat-2", "nucleus and actin connecting element"	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.6790A>G	14.37:g.64496688A>G	ENSP00000341781:p.Thr2264Ala					SYNE2_ENST00000554584.1_Missense_Mutation_p.T2264A|SYNE2_ENST00000344113.4_Missense_Mutation_p.T2264A|SYNE2_ENST00000357395.3_5'UTR	p.T2264A	NM_182914.2	NP_878918.2	Q8WXH0	SYNE2_HUMAN		all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)	44	7020	+			2264					Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Missense_Mutation	SNP	ENST00000344113.4	37	c.6790A>G	CCDS41963.1	.	.	.	.	.	.	.	.	.	.	A	1.453	-0.564401	0.03939	.	.	ENSG00000054654	ENST00000358025;ENST00000344113;ENST00000554584;ENST00000261678	T;T;T	0.34275	1.37;1.37;1.37	5.24	-1.29	0.09288	.	0.486251	0.19305	N	0.117542	T	0.12603	0.0306	N	0.04880	-0.145	0.09310	N	0.999998	B;B	0.06786	0.001;0.001	B;B	0.09377	0.002;0.004	T	0.27365	-1.0076	10	0.12430	T	0.62	.	5.4919	0.16781	0.4559:0.0:0.408:0.1361	.	2264;2264	Q8WXH0;Q8WXH0-2	SYNE2_HUMAN;.	A	2264	ENSP00000350719:T2264A;ENSP00000341781:T2264A;ENSP00000452570:T2264A	ENSP00000261678:T2264A	T	+	1	0	SYNE2	63566441	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	0.248000	0.18198	-0.383000	0.07858	-0.250000	0.11733	ACA		0.403	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276994.2	NM_182914		16	24	0	0	0	1	0	16	24					G	64496688	A	G	64496688	3	3	305	1	0	0	0	0	1	0	0	0	15443	391	14	4	6960	4	SYNE2	14	64496688	Missense_Mutation	SNP	A	TCGA-KK-A59V-01A-11D-A29Q-08	4531093	64496688	42852852	745	15262											
RDH12	145226	broad.mit.edu	37	chr14	68191299	68191299	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aggagacggccagagagctcGctagccgaggtaagtgtttc	10	7	15	9	3	0	2	0	0	0	2	2	5	0	2	2	3	2	4	2	3	2	3			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr14:68191299G>A	ENST00000551171.1	+	4	502	c.178G>A	c.(178-180)Gct>Act	p.A60T	RDH12_ENST00000539142.1_Missense_Mutation_p.A60T|RDH12_ENST00000267502.3_Missense_Mutation_p.A60T	NM_152443.2	NP_689656.2	Q96NR8	RDH12_HUMAN	retinol dehydrogenase 12 (all-trans/9-cis/11-cis)	60					photoreceptor cell maintenance (GO:0045494)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|retinol metabolic process (GO:0042572)|visual perception (GO:0007601)	intracellular (GO:0005622)|photoreceptor inner segment membrane (GO:0060342)	retinol dehydrogenase activity (GO:0004745)			large_intestine(3)|lung(3)|ovary(1)|prostate(1)|skin(4)	12				all cancers(60;0.000704)|OV - Ovarian serous cystadenocarcinoma(108;0.00161)|BRCA - Breast invasive adenocarcinoma(234;0.00953)	Vitamin A(DB00162)	CAGAGAGCTCGCTAGCCGAGG	0.557																																						ENST00000551171.1																			0				large_intestine(3)|lung(3)|ovary(1)|prostate(1)|skin(4)	12						c.(178-180)Gct>Act		retinol dehydrogenase 12 (all-trans/9-cis/11-cis)	Vitamin A(DB00162)						151	128	136					14																	68191299		2203	4300	6503	SO:0001583	missense	145226				photoreceptor cell maintenance|response to stimulus|retinol metabolic process	intracellular	binding|retinol dehydrogenase activity	g.chr14:68191299G>A	AK054835	CCDS9787.1	14q24.1	2013-02-14	2006-05-09		ENSG00000139988	ENSG00000139988	1.1.1.-	"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"	19977	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 7C, member 2"	608830	"retinol dehydrogenase 12 (all-trans and 9-cis)"			12226107, 19027726	Standard	NM_152443		Approved	FLJ30273, SDR7C2, LCA13, RP53	uc001xjz.4	Q96NR8		ENST00000551171.1:c.178G>A	14.37:g.68191299G>A	ENSP00000449079:p.Ala60Thr					RDH12_ENST00000267502.3_Missense_Mutation_p.A60T|RDH12_ENST00000539142.1_Missense_Mutation_p.A60T	p.A60T	NM_152443.2	NP_689656.2	Q96NR8	RDH12_HUMAN		all cancers(60;0.000704)|OV - Ovarian serous cystadenocarcinoma(108;0.00161)|BRCA - Breast invasive adenocarcinoma(234;0.00953)	4	502	+			60					B2RDA2|Q8TAW6	Missense_Mutation	SNP	ENST00000551171.1	37	c.178G>A	CCDS9787.1	.	.	.	.	.	.	.	.	.	.	G	33	5.226558	0.95173	.	.	ENSG00000139988	ENST00000551171;ENST00000267502;ENST00000539142	D;D;D	0.89552	-2.53;-2.53;-2.53	5.32	5.32	0.75619	NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.95865	0.8654	M	0.91972	3.26	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96326	0.9240	10	0.87932	D	0	.	19.1982	0.93698	0.0:0.0:1.0:0.0	.	60	Q96NR8	RDH12_HUMAN	T	60	ENSP00000449079:A60T;ENSP00000267502:A60T;ENSP00000438715:A60T	ENSP00000267502:A60T	A	+	1	0	RDH12	67261052	1.000000	0.71417	0.987000	0.45799	0.694000	0.40290	9.171000	0.94802	2.773000	0.95371	0.655000	0.94253	GCT		0.557	RDH12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406918.1			19	61	0	0	0	1	0	19	61					A	68191299	G	A	68191299	3	1	305	1	0	0	0	0	1	0	0	0	13191	1087	38	1	184	1	RDH12	14	68191299	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	3694611	68191299	39158241	746	15263											
ZFP36L1	677	broad.mit.edu	37	chr14	69256455	69256455	+	Frame_Shift_Del	DEL	C	C	-																															ggaaggtggtcggggagccaCccccgggcagccccatgcta																										TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr14:69256455delC	ENST00000439696.2	-	2	1113	c.812delG	c.(811-813)ggtfs	p.G272fs	ZFP36L1_ENST00000555997.1_3'UTR|ZFP36L1_ENST00000336440.3_Frame_Shift_Del_p.G272fs	NM_001244701.1|NM_004926.3	NP_001231630.1|NP_004917.2	Q07352	TISB_HUMAN	ZFP36 ring finger protein-like 1	272					gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|regulation of mRNA stability (GO:0043488)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|T cell differentiation in thymus (GO:0033077)|vasculogenesis (GO:0001570)	cytosol (GO:0005829)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(4)|kidney(1)|large_intestine(1)|liver(2)|lung(9)|ovary(1)|prostate(2)|urinary_tract(1)	21				all cancers(60;0.00203)|BRCA - Breast invasive adenocarcinoma(234;0.00205)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)		CGGGGAGCCACCCCCGGGCAG	0.642											OREG0022753	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000439696.2																			0				breast(4)|kidney(1)|large_intestine(1)|liver(2)|lung(9)|ovary(1)|prostate(2)|urinary_tract(1)	21						c.(811-813)gtfs		ZFP36 ring finger protein-like 1							54	65	61					14																	69256455		2198	4298	6496	SO:0001589	frameshift_variant	677				regulation of mRNA stability	cytosol|nucleus	DNA binding|mRNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr14:69256455delC	X79066	CCDS9791.1	14q22-q24	2012-11-27	2012-11-27	2001-11-23		ENSG00000185650		"RING-type (C3HC4) zinc fingers"	1107	protein-coding gene	gene with protein product		601064	"zinc finger protein, C3H type, 36-like 1", "zinc finger protein 36, C3H type-like 1"	BRF1		8024689	Standard	NM_004926		Approved	RNF162B, Berg36, ERF1, TIS11B, cMG1	uc021rve.1	Q07352		ENST00000439696.2:c.812delG	14.37:g.69256455delC	ENSP00000388402:p.Gly272fs		OREG0022753	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1113	ZFP36L1_ENST00000555997.1_3'UTR|ZFP36L1_ENST00000336440.3_Frame_Shift_Del_p.G272fs	p.G272fs	NM_001244701.1|NM_004926.3	NP_001231630.1|NP_004917.2	Q07352	TISB_HUMAN		all cancers(60;0.00203)|BRCA - Breast invasive adenocarcinoma(234;0.00205)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)	2	1113	-			272					Q13851	Frame_Shift_Del	DEL	ENST00000439696.2	37	c.812delG	CCDS9791.1																																																																																				0.642	ZFP36L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413227.1			29	245						29	245	---	---	---	---	-	69256455	C	-	69256455	7	5	305	1	0	1	0	1	0	0	0	0	17643	507	18	0	208	0	ZFP36L1	14	69256455	Frame_Shift_Del	DEL	C	TCGA-KK-A59V-01A-11D-A29Q-08	1065156	69256455	38093085	747	15264											
KIAA0317	9870	broad.mit.edu	37	chr14	75143386	75143386	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtactatttgaagggtgtgcGgctgcccacaggtcaataca	10	10	12	9	1	1	1	1	1	0	0	1	1	1	1	1	3	4	2	1	3	5	4	rs202106130		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr14:75143386G>A	ENST00000356357.4	-	6	1066	c.551C>T	c.(550-552)cCg>cTg	p.P184L	AREL1_ENST00000557401.1_5'UTR	NM_001039479.1	NP_001034568.1	O15033	AREL1_HUMAN	apoptosis resistant E3 ubiquitin protein ligase 1	184					apoptotic process (GO:0006915)|negative regulation of apoptotic process (GO:0043066)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)										AAGGGTGTGCGGCTGCCCACA	0.428																																						ENST00000356357.4																			0											c.(550-552)cCg>cTg		apoptosis resistant E3 ubiquitin protein ligase 1		G	LEU/PRO	1,3869		0,1,1934	160	152	155		551	3.4	1	14		155	0,8270		0,0,4135	yes	missense	KIAA0317	NM_001039479.1	98	0,1,6069	AA,AG,GG		0.0,0.0258,0.0082	benign	184/824	75143386	1,12139	1935	4135	6070	SO:0001583	missense	9870							g.chr14:75143386G>A	AB002315	CCDS41971.1	14q24.2	2013-04-15	2013-04-15	2013-04-15	ENSG00000119682	ENSG00000119682			20363	protein-coding gene	gene with protein product		615380	"KIAA0317"	KIAA0317		9205841, 23479728	Standard	XM_006720344		Approved		uc001xqb.3	O15033	OTTHUMG00000154499	ENST00000356357.4:c.551C>T	14.37:g.75143386G>A	ENSP00000348714:p.Pro184Leu					AREL1_ENST00000557401.1_5'UTR	p.P184L	NM_001039479.1	NP_001034568.1					6	1066	-								B4E2C7|Q7LDY1|Q8IYY9	Missense_Mutation	SNP	ENST00000356357.4	37	c.551C>T	CCDS41971.1	.	.	.	.	.	.	.	.	.	.	G	10.62	1.401944	0.25291	2.58E-4	0.0	ENSG00000119682	ENST00000356357;ENST00000543377;ENST00000556202	T;T	0.47177	0.85;0.85	5.42	3.42	0.39159	.	0.104678	0.64402	N	0.000002	T	0.21761	0.0524	N	0.08118	0	0.54753	D	0.99998	B;B	0.25743	0.133;0.003	B;B	0.17433	0.018;0.001	T	0.05666	-1.0871	10	0.12103	T	0.63	.	8.194	0.31385	0.0892:0.0:0.644:0.2668	.	184;184	O15033-2;O15033	.;K0317_HUMAN	L	184;23;23	ENSP00000348714:P184L;ENSP00000452101:P23L	ENSP00000348714:P184L	P	-	2	0	KIAA0317	74213139	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	3.664000	0.54525	1.291000	0.44653	0.561000	0.74099	CCG		0.428	AREL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335517.2	NM_014821		16	70	0	0	0	1	0	16	70					A	75143386	G	A	75143386	3	1	305	1	0	0	0	0	1	0	0	0	8167	1116	39	2	1980	2	KIAA0317	14	75143386	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	5886931	75143386	32206154	748	15265											
EIF2B2	8892	broad.mit.edu	37	chr14	75474467	75474469	+	In_Frame_Del	DEL	GAA	GAA	-																															ttcataagtttgtggctcctGaagaagtcctgccattcaca																										TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr14:75474467_75474469delGAA	ENST00000266126.5	+	7	954_956	c.874_876delGAA	c.(874-876)gaadel	p.E293del	RP11-950C14.3_ENST00000554430.1_RNA	NM_014239.3	NP_055054.1	P49770	EI2BB_HUMAN	eukaryotic translation initiation factor 2B, subunit 2 beta, 39kDa	293					cellular protein metabolic process (GO:0044267)|cellular response to stimulus (GO:0051716)|central nervous system development (GO:0007417)|gene expression (GO:0010467)|myelination (GO:0042552)|oligodendrocyte development (GO:0014003)|ovarian follicle development (GO:0001541)|positive regulation of GTPase activity (GO:0043547)|regulation of translational initiation (GO:0006446)|response to glucose (GO:0009749)|response to heat (GO:0009408)|response to peptide hormone (GO:0043434)|translation (GO:0006412)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|eukaryotic translation initiation factor 2B complex (GO:0005851)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|translation initiation factor activity (GO:0003743)			endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)	11				BRCA - Breast invasive adenocarcinoma(234;0.00661)		TGTGGCTCCTGAAGAAGTCCTGC	0.414																																						ENST00000266126.5																			0				endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)	11						c.(874-876)del		eukaryotic translation initiation factor 2B, subunit 2 beta, 39kDa																																				SO:0001651	inframe_deletion	8892				cellular response to stimulus|myelination|oligodendrocyte development|ovarian follicle development|regulation of translational initiation|response to glucose stimulus|response to heat|response to peptide hormone stimulus	cytosol|eukaryotic translation initiation factor 2B complex	ATP binding|GTP binding|protein binding|translation initiation factor activity	g.chr14:75474467_75474469delGAA		CCDS9836.1	14q24.3	2008-08-11	2002-08-29			ENSG00000119718			3258	protein-coding gene	gene with protein product		606454	"eukaryotic translation initiation factor 2B, subunit 2 (beta, 39kD)"			8887689	Standard	NM_014239		Approved	EIF2B, EIF-2Bbeta	uc001xrc.2	P49770		ENST00000266126.5:c.874_876delGAA	14.37:g.75474470_75474472delGAA	ENSP00000266126:p.Glu293del					RP11-950C14.3_ENST00000554430.1_RNA	p.E293del	NM_014239.3	NP_055054.1	P49770	EI2BB_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00661)	7	954_956	+			293					O43201	In_Frame_Del	DEL	ENST00000266126.5	37	c.874_876delGAA	CCDS9836.1																																																																																				0.414	EIF2B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414993.1	NM_014239		14	51						14	51	---	---	---	---	-	75474469	GAA	-	75474467	7	5	305	1	0	1	0	1	0	0	0	0	5001	1291	45	0	900	0	EIF2B2	14	75474467	In_Frame_Del	DEL	GAA	TCGA-KK-A59V-01A-11D-A29Q-08	331081	75474467	31875073	749	15266											
NEK9	91754	broad.mit.edu	37	chr14	75558141	75558141	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtcctcttcttcaccaccGccgcccccgccgcctcctcc	2	9	5	25	4	3	0	1	0	2	0	6	0	6	0	10	0	0	0	10	0	0	2	rs376937236		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr14:75558141G>A	ENST00000238616.5	-	19	2432	c.2274C>T	c.(2272-2274)ggC>ggT	p.G758G		NM_033116.4	NP_149107.4	Q8TD19	NEK9_HUMAN	NIMA-related kinase 9	758	Interaction with NEK6.|Poly-Gly.				mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope disassembly (GO:0007077)	cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)			endometrium(4)|kidney(2)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	31				BRCA - Breast invasive adenocarcinoma(234;0.00718)		CTTCACCACCGCCGCCCCCGC	0.522																																						ENST00000238616.5																			0				endometrium(4)|kidney(2)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	31						c.(2272-2274)ggC>ggT		NIMA-related kinase 9		G		1,4405	2.1+/-5.4	0,1,2202	42	42	42		2274	-3.6	0	14		42	0,8600		0,0,4300	no	coding-synonymous	NEK9	NM_033116.4		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		758/980	75558141	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	91754				cell division|mitosis	mitochondrion|nucleus	ATP binding|metal ion binding|protein kinase binding|protein serine/threonine kinase activity	g.chr14:75558141G>A	AY048580	CCDS9839.1	14q24.2	2012-11-15	2012-11-15		ENSG00000119638	ENSG00000119638			18591	protein-coding gene	gene with protein product		609798	"NIMA (never in mitosis gene a)- related kinase 9"			11864968	Standard	NM_033116		Approved	Nek8, NERCC, DKFZp434D0935, MGC16714	uc001xrl.3	Q8TD19	OTTHUMG00000171768	ENST00000238616.5:c.2274C>T	14.37:g.75558141G>A							p.G758G	NM_033116.4	NP_149107.4	Q8TD19	NEK9_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00718)	19	2432	-			758			Interaction with NEK6.|Poly-Gly.		Q52LK6|Q8NCN0|Q8TCY4|Q9UPI4|Q9Y6S4|Q9Y6S5|Q9Y6S6	Silent	SNP	ENST00000238616.5	37	c.2274C>T	CCDS9839.1																																																																																				0.522	NEK9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415021.1	NM_033116		15	30	0	0	0	1	0	15	30					A	75558141	G	A	75558141	2	1	305	1	0	0	0	0	0	0	0	1	10331	1074	38	1		1	NEK9	14	75558141	Silent	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	83674	75558141	31791399	750	15267											
DIO2	1734	broad.mit.edu	37	chr14	80677671	80677671	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcatgcgccgccactctcCgcgagtggacttggagcggc	6	6	14	15	5	1	0	0	0	1	0	2	3	1	2	3	3	3	1	3	3	0	1			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr14:80677671C>T	ENST00000557010.1	-	3	530	c.145G>A	c.(145-147)Gga>Aga	p.G49R	DIO2_ENST00000422005.3_Missense_Mutation_p.G49R|DIO2_ENST00000438257.4_Missense_Mutation_p.G49R|DIO2_ENST00000555750.1_Missense_Mutation_p.G49R|DIO2_ENST00000557125.1_Intron|DIO2-AS1_ENST00000553979.1_RNA	NM_000793.5|NM_001242502.1|NM_001242503.1	NP_000784.2|NP_001229431.1|NP_001229432.1	Q92813	IOD2_HUMAN	deiodinase, iodothyronine, type II	49					cellular nitrogen compound metabolic process (GO:0034641)|hormone biosynthetic process (GO:0042446)|selenocysteine incorporation (GO:0001514)|small molecule metabolic process (GO:0044281)|thyroid hormone generation (GO:0006590)|thyroid hormone metabolic process (GO:0042403)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	selenium binding (GO:0008430)|thyroxine 5'-deiodinase activity (GO:0004800)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(14)|skin(1)|stomach(1)	25				BRCA - Breast invasive adenocarcinoma(234;0.0281)		CGCCACTCTCCGCGAGTGGAC	0.577																																						ENST00000557010.1																			0				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(14)|skin(1)|stomach(1)	25						c.(145-147)Gga>Aga		deiodinase, iodothyronine, type II							36	39	38					14																	80677671		2035	4178	6213	SO:0001583	missense	1734				hormone biosynthetic process|selenocysteine incorporation|thyroid hormone generation	integral to membrane|plasma membrane	thyroxine 5'-deiodinase activity|ubiquitin protein ligase binding	g.chr14:80677671C>T	AF007144	CCDS45146.1, CCDS55934.1	14q24.2-q24.3	2014-05-02			ENSG00000211448	ENSG00000211448	1.97.1.10		2884	protein-coding gene	gene with protein product	"thyroxine deiodinase, type II", "deiodonase-2", "deiodinase-2"	601413				8755651, 10343107	Standard	NM_001007023		Approved	TXDI2, SelY	uc021rxb.1	Q92813	OTTHUMG00000171443	ENST00000557010.1:c.145G>A	14.37:g.80677671C>T	ENSP00000451419:p.Gly49Arg					DIO2_ENST00000438257.4_Missense_Mutation_p.G49R|DIO2_ENST00000557125.1_Intron|DIO2_ENST00000555750.1_Missense_Mutation_p.G49R|DIO2_ENST00000422005.3_Missense_Mutation_p.G49R	p.G49R	NM_000793.5|NM_001242502.1|NM_001242503.1	NP_000784.2|NP_001229431.1|NP_001229432.1	Q92813	IOD2_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0281)	3	530	-			49					B9EGK0|G3V315|Q6B0A3|Q9HCP8|Q9P1W4|Q9UDZ1	Missense_Mutation	SNP	ENST00000557010.1	37	c.145G>A	CCDS45146.1	.	.	.	.	.	.	.	.	.	.	C	19.14	3.769550	0.69992	.	.	ENSG00000211448	ENST00000438257;ENST00000557010;ENST00000422005;ENST00000555750;ENST00000388838;ENST00000554188	T;T;T;T;T	0.31510	1.49;1.49;1.49;1.49;1.49	5.7	4.82	0.62117	.	0.408600	0.22197	N	0.063283	T	0.52517	0.1739	M	0.76574	2.34	0.43073	D	0.99471	B;D;B;P	0.76494	0.078;0.999;0.257;0.798	B;D;B;B	0.68483	0.018;0.958;0.042;0.229	T	0.56805	-0.7918	10	0.87932	D	0	.	10.6813	0.45815	0.0:0.8546:0.0:0.1454	.	49;49;49;49	Q92813-2;Q92813;G3V315;A8K845	.;IOD2_HUMAN;.;.	R	49	ENSP00000405854:G49R;ENSP00000451419:G49R;ENSP00000411438:G49R;ENSP00000450980:G49R;ENSP00000451136:G49R	ENSP00000373490:G49R	G	-	1	0	DIO2	79747424	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	3.267000	0.51577	1.400000	0.46741	0.650000	0.86243	GGA		0.577	DIO2-001	KNOWN	basic|appris_principal|CCDS|seleno	protein_coding	protein_coding	OTTHUMT00000413428.2			7	25	0	0	0	1	0	7	25					T	80677671	C	T	80677671	3	4	305	1	0	0	0	0	1	0	0	0	4525	661	23	2	796	2	DIO2	14	80677671	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	5119530	80677671	26671869	751	15268											
FLRT2	23768	broad.mit.edu	37	chr14	86088044	86088044	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcagtgcctcttgggatcccGgagggcgtaactgtactcta	7	11	12	11	2	3	0	1	0	2	0	4	2	4	2	2	3	3	2	2	3	3	4	rs576805931		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr14:86088044G>A	ENST00000330753.4	+	2	953	c.186G>A	c.(184-186)ccG>ccA	p.P62P	FLRT2_ENST00000554746.1_Silent_p.P62P	NM_013231.4	NP_037363.1	O43155	FLRT2_HUMAN	fibronectin leucine rich transmembrane protein 2	62	LRRNT.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|intracellular signal transduction (GO:0035556)|regulation of neuron migration (GO:2001222)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|proteinaceous extracellular matrix (GO:0005578)	chemorepellent activity (GO:0045499)|protein binding, bridging (GO:0030674)|receptor signaling protein activity (GO:0005057)			NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	73				BRCA - Breast invasive adenocarcinoma(234;0.0319)		TTGGGATCCCGGAGGGCGTAA	0.517																																						ENST00000330753.4																			0				NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	73						c.(184-186)ccG>ccA		fibronectin leucine rich transmembrane protein 2							134	121	125					14																	86088044		2203	4300	6503	SO:0001819	synonymous_variant	23768				cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity	g.chr14:86088044G>A	AF169676	CCDS9877.1	14q24-q32	2013-02-11				ENSG00000185070		"Fibronectin type III domain containing"	3761	protein-coding gene	gene with protein product		604807				10644439, 16872596	Standard	XM_005267490		Approved		uc001xvr.3	O43155		ENST00000330753.4:c.186G>A	14.37:g.86088044G>A						FLRT2_ENST00000554746.1_Silent_p.P62P	p.P62P	NM_013231.4	NP_037363.1	O43155	FLRT2_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0319)	2	953	+			62			LRRNT.		A0AV84|B7ZLP3	Silent	SNP	ENST00000330753.4	37	c.186G>A	CCDS9877.1																																																																																				0.517	FLRT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413193.1			47	102	0	0	0	1	0	47	102					A	86088044	G	A	86088044	2	1	305	1	0	0	0	0	0	0	0	1	5939	1103	39	2		2	FLRT2	14	86088044	Silent	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	5410373	86088044	21261496	752	15269											
RPS6KA5	9252	broad.mit.edu	37	chr14	91444844	91444844	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tatcatggccacttattttaCgaactagaaatacttttcca	13	15	4	9	1	1	1	1	0	0	1	2	2	2	1	2	1	3	0	2	1	7	8			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr14:91444844C>T	ENST00000261991.3	-	3	373	c.200G>A	c.(199-201)cGt>cAt	p.R67H	RPS6KA5_ENST00000418736.2_Missense_Mutation_p.R67H|RPS6KA5_ENST00000536315.2_5'UTR	NM_004755.2	NP_004746.2	O75582	KS6A5_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 5	67	Protein kinase 1. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|epidermal growth factor receptor signaling pathway (GO:0007173)|histone H2A-S1 phosphorylation (GO:0043990)|histone H3-S10 phosphorylation (GO:0043987)|histone H3-S28 phosphorylation (GO:0043988)|histone phosphorylation (GO:0016572)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-1-mediated signaling pathway (GO:0070498)|intracellular signal transduction (GO:0035556)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of cytokine production (GO:0001818)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of histone acetylation (GO:0035066)|positive regulation of histone phosphorylation (GO:0033129)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	24		all_cancers(154;0.0148)|Melanoma(154;0.099)|all_epithelial(191;0.146)		Epithelial(152;0.182)|BRCA - Breast invasive adenocarcinoma(234;0.201)		ACTTATTTTACGAACTAGAAA	0.323																																						ENST00000261991.3																			0				endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	24						c.(199-201)cGt>cAt		ribosomal protein S6 kinase, 90kDa, polypeptide 5							116	98	104					14																	91444844		2203	4300	6503	SO:0001583	missense	9252				axon guidance|epidermal growth factor receptor signaling pathway|histone phosphorylation|innate immune response|interleukin-1-mediated signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of transcription from RNA polymerase II promoter|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytoplasm|nucleoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity	g.chr14:91444844C>T	AF074393	CCDS9893.1, CCDS45149.1	14q31-q32.1	2011-04-05	2002-08-29			ENSG00000100784			10434	protein-coding gene	gene with protein product		603607	"ribosomal protein S6 kinase, 90kD, polypeptide 5"			9687510, 10702687	Standard	NM_004755		Approved	MSK1, RLPK	uc001xys.2	O75582		ENST00000261991.3:c.200G>A	14.37:g.91444844C>T	ENSP00000261991:p.Arg67His					RPS6KA5_ENST00000418736.2_Missense_Mutation_p.R67H|RPS6KA5_ENST00000536315.2_5'UTR	p.R67H	NM_004755.2	NP_004746.2	O75582	KS6A5_HUMAN		Epithelial(152;0.182)|BRCA - Breast invasive adenocarcinoma(234;0.201)	3	373	-		all_cancers(154;0.0148)|Melanoma(154;0.099)|all_epithelial(191;0.146)	67			Protein kinase 1.		O95316|Q96AF7	Missense_Mutation	SNP	ENST00000261991.3	37	c.200G>A	CCDS9893.1	.	.	.	.	.	.	.	.	.	.	C	28.8	4.950511	0.92660	.	.	ENSG00000100784	ENST00000261991;ENST00000418736	T;T	0.26810	1.71;1.71	5.89	5.89	0.94794	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.54271	0.1848	M	0.72479	2.2	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.997;1.0	T	0.53422	-0.8441	10	0.87932	D	0	.	20.2527	0.98410	0.0:1.0:0.0:0.0	.	67;67	O75582-2;O75582	.;KS6A5_HUMAN	H	67	ENSP00000261991:R67H;ENSP00000402787:R67H	ENSP00000261991:R67H	R	-	2	0	RPS6KA5	90514597	1.000000	0.71417	1.000000	0.80357	0.695000	0.40330	7.487000	0.81328	2.788000	0.95919	0.557000	0.71058	CGT		0.323	RPS6KA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411442.2	NM_004755		15	29	0	0	0	1	0	15	29					T	91444844	C	T	91444844	3	4	305	1	0	0	0	0	1	0	0	0	13654	536	19	1	2274	1	RPS6KA5	14	91444844	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	5356800	91444844	15904696	753	15270											
GPR68	8111	broad.mit.edu	37	chr14	91700524	91700524	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	caggtcccggtgggtggtctCgctgacgaagcagtagagca	8	7	16	10	3	1	2	0	1	1	1	3	3	2	2	1	4	2	4	1	4	2	1			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr14:91700524C>T	ENST00000531499.2	-	2	1210	c.871G>A	c.(871-873)Gag>Aag	p.E291K	GPR68_ENST00000238699.3_Missense_Mutation_p.E301K|GPR68_ENST00000529300.1_5'Flank|GPR68_ENST00000535815.1_Missense_Mutation_p.E291K			Q15743	OGR1_HUMAN	G protein-coupled receptor 68	291					cellular response to pH (GO:0071467)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|negative regulation of monocyte differentiation (GO:0045656)|positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0035774)|positive regulation of osteoclast development (GO:2001206)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(2)|endometrium(1)|kidney(1)|lung(2)|skin(1)|urinary_tract(1)	8		all_cancers(154;0.0555)		COAD - Colon adenocarcinoma(157;0.21)		TGGGTGGTCTCGCTGACGAAG	0.692																																						ENST00000531499.2																			0				central_nervous_system(2)|endometrium(1)|kidney(1)|lung(2)|skin(1)|urinary_tract(1)	8						c.(871-873)Gag>Aag		G protein-coupled receptor 68							14	17	16					14																	91700524		2167	4245	6412	SO:0001583	missense	0				inflammatory response	integral to plasma membrane	G-protein coupled receptor activity	g.chr14:91700524C>T	U48405	CCDS9894.1, CCDS9894.2	14q31	2012-08-21				ENSG00000119714		"GPCR / Class A : Orphans"	4519	protein-coding gene	gene with protein product		601404				8661159	Standard	NM_001177676		Approved	OGR1	uc001xzg.3	Q15743		ENST00000531499.2:c.871G>A	14.37:g.91700524C>T	ENSP00000434045:p.Glu291Lys					GPR68_ENST00000535815.1_Missense_Mutation_p.E291K|GPR68_ENST00000238699.3_Missense_Mutation_p.E301K	p.E291K			Q15743	OGR1_HUMAN		COAD - Colon adenocarcinoma(157;0.21)	2	1210	-		all_cancers(154;0.0555)	291					Q13334|Q4VBB4|Q6IX34	Missense_Mutation	SNP	ENST00000531499.2	37	c.871G>A	CCDS9894.2	.	.	.	.	.	.	.	.	.	.	C	34	5.309801	0.95629	.	.	ENSG00000119714	ENST00000531499;ENST00000238699;ENST00000535815;ENST00000529102	T;T;T;T	0.30714	1.52;1.52;1.52;1.52	5.26	5.26	0.73747	.	0.000000	0.85682	D	0.000000	T	0.45856	0.1363	L	0.29908	0.895	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.79784	0.989;0.993	T	0.39981	-0.9587	10	0.49607	T	0.09	.	18.8661	0.92293	0.0:1.0:0.0:0.0	.	291;291	Q6NWR5;Q15743	.;OGR1_HUMAN	K	291;301;291;291	ENSP00000434045:E291K;ENSP00000238699:E301K;ENSP00000440797:E291K;ENSP00000432740:E291K	ENSP00000238699:E301K	E	-	1	0	GPR68	90770277	1.000000	0.71417	0.989000	0.46669	0.921000	0.55340	7.813000	0.86123	2.457000	0.83068	0.555000	0.69702	GAG		0.692	GPR68-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395245.2			4	9	0	0	0	1	0	4	9					T	91700524	C	T	91700524	3	4	305	1	0	0	0	0	1	0	0	0	6707	893	31	2	230	2	GPR68	14	91700524	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	255680	91700524	15649016	754	15271											
CLMN	79789	broad.mit.edu	37	chr14	95662949	95662949	+	Frame_Shift_Del	DEL	T	T	-																															ccacatgtttccttttttccTtttttttactactgattgat																										TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr14:95662949delT	ENST00000298912.4	-	10	2707	c.2594delA	c.(2593-2595)aagfs	p.K865fs	CLMN_ENST00000557215.1_5'Flank|CLMN_ENST00000556441.1_5'Flank	NM_024734.3	NP_079010.2	Q96JQ2	CLMN_HUMAN	calmin (calponin-like, transmembrane)	865					negative regulation of cell proliferation (GO:0008285)|neuron projection development (GO:0031175)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)		p.K865fs*10(1)		central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(17)|prostate(3)|skin(3)	44				Epithelial(152;0.193)		CCTTTTTTCCTTTTTTTTACT	0.408																																						ENST00000298912.4																			1	Deletion - Frameshift(1)	p.K865fs*10(1)	large_intestine(1)	central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(17)|prostate(3)|skin(3)	44						c.(2593-2595)agfs		calmin (calponin-like, transmembrane)							152	132	139					14																	95662949		2203	4300	6503	SO:0001589	frameshift_variant	79789					integral to membrane	actin binding	g.chr14:95662949delT	AB033014	CCDS9933.1	14q32.13	2012-10-02			ENSG00000165959	ENSG00000165959			19972	protein-coding gene	gene with protein product		611121				11386753	Standard	NM_024734		Approved	FLJ12383, KIAA1188, KIAA0500	uc001yef.2	Q96JQ2	OTTHUMG00000171629	ENST00000298912.4:c.2594delA	14.37:g.95662949delT	ENSP00000298912:p.Lys865fs						p.K865fs	NM_024734.3	NP_079010.2	Q96JQ2	CLMN_HUMAN		Epithelial(152;0.193)	10	2707	-			865					B2RAR7|Q9H713|Q9HA23|Q9HA57|Q9UFP4|Q9ULN2	Frame_Shift_Del	DEL	ENST00000298912.4	37	c.2594delA	CCDS9933.1																																																																																				0.408	CLMN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414518.2			17	30						17	30	---	---	---	---	-	95662949	T	-	95662949	7	5	305	1	0	1	0	1	0	0	0	0	3542	1609	56	0	430	0	CLMN	14	95662949	Frame_Shift_Del	DEL	T	TCGA-KK-A59V-01A-11D-A29Q-08	3962425	95662949	11686591	755	15272											
C14orf49	161176	broad.mit.edu	37	chr14	95903246	95903246	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cttggagttttccacctgcaAccactgcccaaagttcctca	9	11	6	15	0	1	0	1	0	0	0	3	1	3	1	5	1	3	3	5	1	2	4			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr14:95903246A>G	ENST00000334258.5	-	14	2463	c.2449T>C	c.(2449-2451)Ttg>Ctg	p.L817L	SYNE3_ENST00000554873.1_Silent_p.L574L|SYNE3_ENST00000557275.1_Silent_p.L812L	NM_152592.3	NP_689805.3	Q6ZMZ3	SYNE3_HUMAN	spectrin repeat containing, nuclear envelope family member 3	817					cytoskeletal anchoring at nuclear membrane (GO:0090286)|cytoskeleton organization (GO:0007010)|establishment of protein localization to membrane (GO:0090150)|regulation of cell shape (GO:0008360)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear outer membrane (GO:0005640)|SUN-KASH complex (GO:0034993)	actin filament binding (GO:0051015)			breast(1)|endometrium(2)|lung(25)	28						TCCACCTGCAACCACTGCCCA	0.502																																						ENST00000334258.5																			0				breast(1)|endometrium(2)|lung(25)	28						c.(2449-2451)Ttg>Ctg		spectrin repeat containing, nuclear envelope family member 3							124	114	117					14																	95903246		2203	4300	6503	SO:0001819	synonymous_variant	161176							g.chr14:95903246A>G	AK098471	CCDS9935.1	14q32.13	2012-05-31	2012-05-31	2012-05-31	ENSG00000176438	ENSG00000176438			19861	protein-coding gene	gene with protein product		610861	"chromosome 14 open reading frame 49"	C14orf49			Standard	NM_152592		Approved	FLJ25605, NET53, Nesprin-3, Nesp3	uc001yei.4	Q6ZMZ3	OTTHUMG00000171632	ENST00000334258.5:c.2449T>C	14.37:g.95903246A>G						SYNE3_ENST00000557275.1_Silent_p.L812L|SYNE3_ENST00000554873.1_Silent_p.L574L	p.L817L	NM_152592.3	NP_689805.3					14	2463	-								A6H8H3|Q86SX5|Q8N7G8	Silent	SNP	ENST00000334258.5	37	c.2449T>C	CCDS9935.1																																																																																				0.502	SYNE3-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000420529.2	NM_152592		5	112	0	0	0	1	0	5	112					G	95903246	A	G	95903246	2	3	305	1	0	0	0	0	0	0	0	1	1776	40	2	4		4	C14orf49	14	95903246	Silent	SNP	A	TCGA-KK-A59V-01A-11D-A29Q-08	240297	95903246	11446294	756	15273											
BCL11B	64919	broad.mit.edu	37	chr14	99641823	99641823	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cacttgtagggcttctcgccCgtgtgactgcgccggtgcac	4	10	13	14	4	1	1	0	1	1	0	2	1	1	1	2	2	2	3	2	2	1	3	rs375880436		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr14:99641823C>T	ENST00000357195.3	-	4	1359	c.1350G>A	c.(1348-1350)acG>acA	p.T450T	BCL11B_ENST00000345514.2_Silent_p.T379T|BCL11B_ENST00000443726.2_Silent_p.T256T	NM_001282237.1|NM_138576.2	NP_001269166.1|NP_612808.1	Q9C0K0	BC11B_HUMAN	B-cell CLL/lymphoma 11B (zinc finger protein)	450					alpha-beta T cell differentiation (GO:0046632)|epithelial cell morphogenesis (GO:0003382)|keratinocyte development (GO:0003334)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|odontogenesis of dentin-containing tooth (GO:0042475)|olfactory bulb axon guidance (GO:0071678)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive T cell selection (GO:0043368)|post-embryonic camera-type eye development (GO:0031077)|regulation of keratinocyte proliferation (GO:0010837)|regulation of lipid metabolic process (GO:0019216)|regulation of neuron differentiation (GO:0045664)|striatal medium spiny neuron differentiation (GO:0021773)|T cell differentiation in thymus (GO:0033077)|T cell receptor V(D)J recombination (GO:0033153)|thymus development (GO:0048538)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(3)|breast(1)|central_nervous_system(9)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)|skin(2)	34		Melanoma(154;0.0866)|all_epithelial(191;0.241)		COAD - Colon adenocarcinoma(157;0.103)		GCTTCTCGCCCGTGTGACTGC	0.647			T	TLX3	T-ALL																																	ENST00000345514.2				Dom	yes		14	14q32.1	64919	T	B-cell CLL/lymphoma 11B  (CTIP2)			L	TLX3		T-ALL		0				NS(3)|breast(1)|central_nervous_system(9)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)|skin(2)	34						c.(1135-1137)acG>acA		B-cell CLL/lymphoma 11B (zinc finger protein)		C	,	1,4403	2.1+/-5.4	0,1,2201	29	29	29		1137,1350	0.4	1	14		29	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	BCL11B	NM_022898.1,NM_138576.2	,	0,1,6501	TT,TC,CC		0.0,0.0227,0.0077	,	379/824,450/895	99641823	1,13003	2202	4300	6502	SO:0001819	synonymous_variant	64919					nucleus	zinc ion binding	g.chr14:99641823C>T	AJ404614	CCDS9949.1, CCDS9950.1	14q32	2013-01-08			ENSG00000127152	ENSG00000127152		"Zinc fingers, C2H2-type"	13222	protein-coding gene	gene with protein product		606558		ZNF856B		11719382, 16950772	Standard	NM_138576		Approved	CTIP-2, CTIP2, hRIT1-alpha	uc001yga.3	Q9C0K0	OTTHUMG00000028967	ENST00000357195.3:c.1350G>A	14.37:g.99641823C>T						BCL11B_ENST00000357195.3_Silent_p.T450T|BCL11B_ENST00000443726.2_Silent_p.T256T	p.T379T	NM_022898.1	NP_075049.1	Q9C0K0	BC11B_HUMAN		COAD - Colon adenocarcinoma(157;0.103)	3	1403	-		Melanoma(154;0.0866)|all_epithelial(191;0.241)	450					Q9H162	Silent	SNP	ENST00000357195.3	37	c.1137G>A	CCDS9950.1																																																																																				0.647	BCL11B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000072332.2	NM_138576		13	30	0	0	0	1	0	13	30					T	99641823	C	T	99641823	2	4	305	1	0	0	0	0	0	0	0	1	1364	639	23	2		2	BCL11B	14	99641823	Silent	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	3738577	99641823	7707717	757	15274											
DEGS2	123099	broad.mit.edu	37	chr14	100615918	100615918	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caccaaaggcgtaggcccagAacagcagccagcgccaggcc	12	1	12	16	2	0	1	0	0	0	1	0	1	0	1	5	3	4	2	5	3	3	1			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr14:100615918A>G	ENST00000305631.5	-	2	787	c.212T>C	c.(211-213)tTc>tCc	p.F71S	DEGS2_ENST00000553834.1_Intron|DEGS2_ENST00000557117.1_5'UTR	NM_206918.2	NP_996801.2			delta(4)-desaturase, sphingolipid 2											breast(1)|lung(6)|skin(1)	8		Melanoma(154;0.212)				GTAGGCCCAGAACAGCAGCCA	0.706																																						ENST00000305631.5																			0				breast(1)|lung(6)|skin(1)	8						c.(211-213)tTc>tCc		delta(4)-desaturase, sphingolipid 2							23	24	24					14																	100615918		2194	4290	6484	SO:0001583	missense	123099				fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	sphingosine hydroxylase activity	g.chr14:100615918A>G		CCDS9956.1	14q32.2	2013-09-02	2011-12-09	2004-12-14	ENSG00000168350	ENSG00000168350		"Fatty acid desaturases"	20113	protein-coding gene	gene with protein product	"sphingolipid delta(4)-desaturase 2", "dihydroceramide desaturase 2"	610862	"chromosome 14 open reading frame 66", "degenerative spermatocyte homolog 2, lipid desaturase (Drosophila)"	C14orf66			Standard	NM_206918		Approved	DES2, FADS8	uc001ygx.2	Q6QHC5	OTTHUMG00000171537	ENST00000305631.5:c.212T>C	14.37:g.100615918A>G	ENSP00000307126:p.Phe71Ser					DEGS2_ENST00000557117.1_5'UTR|DEGS2_ENST00000553834.1_Intron	p.F71S	NM_206918.2	NP_996801.2	Q6QHC5	DEGS2_HUMAN			2	787	-		Melanoma(154;0.212)	71						Missense_Mutation	SNP	ENST00000305631.5	37	c.212T>C	CCDS9956.1	.	.	.	.	.	.	.	.	.	.	A	25.0	4.592900	0.86953	.	.	ENSG00000168350	ENST00000305631	T	0.16897	2.31	4.4	4.4	0.53042	Fatty acid desaturase, type 1 (1);	0.000000	0.85682	D	0.000000	T	0.44644	0.1303	M	0.83692	2.655	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.50800	-0.8785	10	0.62326	D	0.03	-21.9002	13.8933	0.63753	1.0:0.0:0.0:0.0	.	71	Q6QHC5	DEGS2_HUMAN	S	71	ENSP00000307126:F71S	ENSP00000307126:F71S	F	-	2	0	DEGS2	99685671	1.000000	0.71417	0.988000	0.46212	0.866000	0.49608	9.171000	0.94802	1.748000	0.51833	0.459000	0.35465	TTC		0.706	DEGS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414003.1	NM_206918		6	19	0	0	0	1	0	6	19					G	100615918	A	G	100615918	3	3	305	1	0	0	0	0	1	0	0	0	4423	246	9	4	767	4	DEGS2	14	100615918	Missense_Mutation	SNP	A	TCGA-KK-A59V-01A-11D-A29Q-08	974095	100615918	6733622	758	15275											
WARS	7453	broad.mit.edu	37	chr14	100803477	100803478	+	Frame_Shift_Ins	INS	-	-	C																															acacgtccacatcacagttgINScccccaaactgcctgtgctc																										TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr14:100803477_100803478insC	ENST00000355338.2	-	10	1793_1794	c.1175_1176insG	c.(1174-1176)ggcfs	p.G392fs	WARS_ENST00000557135.1_Frame_Shift_Ins_p.G392fs|RP11-638I2.9_ENST00000556212.1_RNA|WARS_ENST00000358655.4_Frame_Shift_Ins_p.G351fs|WARS_ENST00000344102.5_Frame_Shift_Ins_p.G351fs|WARS_ENST00000392882.2_Frame_Shift_Ins_p.G392fs|WARS_ENST00000556645.1_Frame_Shift_Ins_p.G351fs|RP11-638I2.8_ENST00000557226.1_RNA	NM_173701.1	NP_776049.1	P23381	SYWC_HUMAN	tryptophanyl-tRNA synthetase	392					angiogenesis (GO:0001525)|gene expression (GO:0010467)|negative regulation of cell proliferation (GO:0008285)|regulation of angiogenesis (GO:0045765)|translation (GO:0006412)|tRNA aminoacylation for protein translation (GO:0006418)|tryptophanyl-tRNA aminoacylation (GO:0006436)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|tryptophan-tRNA ligase activity (GO:0004830)	p.G392V(1)		breast(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	20		all_cancers(154;0.00223)|all_lung(585;2.48e-06)|all_epithelial(191;0.000564)|Melanoma(154;0.152)			L-Tryptophan(DB00150)	CATCACAGTTGCCCCCAAACTG	0.559																																						ENST00000355338.2																			1	Substitution - Missense(1)	p.G392V(1)	large_intestine(1)	breast(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	20						c.(1174-1176)gaafs		tryptophanyl-tRNA synthetase	L-Tryptophan(DB00150)																																			SO:0001589	frameshift_variant	7453				angiogenesis|negative regulation of cell proliferation|regulation of angiogenesis|tryptophanyl-tRNA aminoacylation	cytosol|soluble fraction	ATP binding|protein binding|tryptophan-tRNA ligase activity	g.chr14:100803477_100803478insC	M61715	CCDS9960.1, CCDS9961.1	14q32.2	2014-03-19			ENSG00000140105	ENSG00000140105	6.1.1.2	"Aminoacyl tRNA synthetases / Class I"	12729	protein-coding gene	gene with protein product	"tryptophan tRNA ligase 1, cytoplasmic"	191050		IFI53		1537332, 1763065	Standard	NM_004184		Approved	IFP53	uc001yhl.1	P23381	OTTHUMG00000171572	ENST00000355338.2:c.1176dupG	14.37:g.100803482_100803482dupC	ENSP00000347495:p.Gly392fs					WARS_ENST00000557135.1_Frame_Shift_Ins_p.E392fs|WARS_ENST00000392882.2_Frame_Shift_Ins_p.E392fs|WARS_ENST00000344102.5_Frame_Shift_Ins_p.E351fs|WARS_ENST00000556645.1_Frame_Shift_Ins_p.E351fs|RP11-638I2.8_ENST00000557226.1_RNA|WARS_ENST00000358655.4_Frame_Shift_Ins_p.E351fs	p.E392fs	NM_173701.1	NP_776049.1	P23381	SYWC_HUMAN			10	1793_1794	-		all_cancers(154;0.00223)|all_lung(585;2.48e-06)|all_epithelial(191;0.000564)|Melanoma(154;0.152)	392					A6NGN1|A6NID3|P78535|Q502Y0|Q53XB6|Q9UDI5|Q9UDL3	Frame_Shift_Ins	INS	ENST00000355338.2	37	c.1175_1176insG	CCDS9960.1																																																																																				0.559	WARS-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414236.1	NM_004184		7	374						7	374	---	---	---	---	C	100803478	-	C	100803477	7	5	305	1	0	1	1	0	0	0	0	0	17246	1306	46	0	247	0	WARS	14	100803477	Frame_Shift_Ins	INS	-	TCGA-KK-A59V-01A-11D-A29Q-08	187559	100803477	6546063	759	15276											
DYNC1H1	1778	broad.mit.edu	37	chr14	102482350	102482350	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	catgctgcaccaggcctgccGcaacgtggcgcagtataacg	9	6	12	14	4	0	0	0	0	0	0	0	0	0	0	3	2	5	5	3	2	3	2			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr14:102482350G>A	ENST00000360184.4	+	36	7564	c.7400G>A	c.(7399-7401)cGc>cAc	p.R2467H		NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	2467					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|cytoplasmic mRNA processing body assembly (GO:0033962)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic spindle organization (GO:0007052)|stress granule assembly (GO:0034063)|transport (GO:0006810)	centrosome (GO:0005813)|cytoplasmic dynein complex (GO:0005868)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|poly(A) RNA binding (GO:0044822)			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						CAGGCCTGCCGCAACGTGGCG	0.617																																						ENST00000360184.4																			0				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						c.(7399-7401)cGc>cAc		dynein, cytoplasmic 1, heavy chain 1							58	45	50					14																	102482350		2203	4300	6503	SO:0001583	missense	1778				cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding	g.chr14:102482350G>A	AB002323	CCDS9966.1	14q32.31	2006-12-21	2005-11-24	2005-11-24		ENSG00000197102		"Cytoplasmic dyneins"	2961	protein-coding gene	gene with protein product		600112	"dynein, cytoplasmic, heavy polypeptide 1"	DNECL, DNCL, DNCH1		16260502, 8666668	Standard	NM_001376		Approved	Dnchc1, HL-3, p22, DHC1	uc001yks.2	Q14204		ENST00000360184.4:c.7400G>A	14.37:g.102482350G>A	ENSP00000348965:p.Arg2467His						p.R2467H	NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN			36	7564	+			2467					B0I1R0|Q6DKQ7|Q8WU28|Q92814|Q9Y4G5	Missense_Mutation	SNP	ENST00000360184.4	37	c.7400G>A	CCDS9966.1	.	.	.	.	.	.	.	.	.	.	G	27.8	4.867078	0.91511	.	.	ENSG00000197102	ENST00000360184	T	0.59906	0.23	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	T	0.58192	0.2105	L	0.42245	1.32	0.80722	D	1	D	0.56746	0.977	P	0.45610	0.487	T	0.62191	-0.6906	10	0.62326	D	0.03	.	19.8311	0.96636	0.0:0.0:1.0:0.0	.	2467	Q14204	DYHC1_HUMAN	H	2467	ENSP00000348965:R2467H	ENSP00000348965:R2467H	R	+	2	0	DYNC1H1	101552103	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	9.632000	0.98428	2.768000	0.95171	0.561000	0.74099	CGC		0.617	DYNC1H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414574.1	NM_001376		7	18	0	0	0	1	0	7	18					A	102482350	G	A	102482350	3	1	305	1	0	0	0	0	1	0	0	0	4841	1087	38	1	7542	1	DYNC1H1	14	102482350	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	1678873	102482350	4867190	760	15277											
CINP	51550	broad.mit.edu	37	chr14	102816276	102816276	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaaatgggttgtaggccacGtgtggaacagagggggtcgt	10	8	18	5	2	0	2	0	0	0	2	1	3	0	3	1	5	1	2	1	5	3	2	rs374421517		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr14:102816276G>A	ENST00000216756.6	-	4	456	c.416C>T	c.(415-417)aCg>aTg	p.T139M	CINP_ENST00000560326.1_5'Flank|CINP_ENST00000541568.2_Intron|CINP_ENST00000536961.2_Missense_Mutation_p.T154M	NM_032630.2	NP_116019.1	Q9BW66	CINP_HUMAN	cyclin-dependent kinase 2 interacting protein	139					cell cycle (GO:0007049)|cell division (GO:0051301)|DNA repair (GO:0006281)|DNA replication (GO:0006260)	nucleus (GO:0005634)				large_intestine(2)|lung(2)	4						TGTAGGCCACGTGTGGAACAG	0.418																																						ENST00000216756.6																			0				large_intestine(2)|lung(2)	4						c.(415-417)aCg>aTg		cyclin-dependent kinase 2 interacting protein		G	MET/THR,,MET/THR	1,4405	2.1+/-5.4	0,1,2202	117	116	116		461,,416	5	0.8	14		116	0,8600		0,0,4300	no	missense,intron,missense	CINP	NM_001177611.1,NM_001177612.1,NM_032630.2	81,,81	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,,probably-damaging	154/228,,139/213	102816276	1,13005	2203	4300	6503	SO:0001583	missense	51550				cell cycle|cell division|DNA repair|DNA replication	nucleus	protein binding	g.chr14:102816276G>A	AK056112, AF228148, AF228149	CCDS9972.1	14q32.33	2010-02-17			ENSG00000100865	ENSG00000100865			23789	protein-coding gene	gene with protein product		613362				16082200	Standard	NM_032630		Approved	MGC849	uc021sea.1	Q9BW66		ENST00000216756.6:c.416C>T	14.37:g.102816276G>A	ENSP00000216756:p.Thr139Met					CINP_ENST00000536961.2_Missense_Mutation_p.T154M|CINP_ENST00000541568.2_Intron	p.T139M	NM_032630.2	NP_116019.1	Q9BW66	CINP_HUMAN			4	456	-			139					F5H7P3|F5H8A7|Q9NPF9	Missense_Mutation	SNP	ENST00000216756.6	37	c.416C>T	CCDS9972.1	.	.	.	.	.	.	.	.	.	.	G	19.21	3.783536	0.70222	2.27E-4	0.0	ENSG00000100865	ENST00000216756;ENST00000536961	T;T	0.63744	-0.01;-0.06	5.9	5.02	0.67125	.	0.052674	0.85682	D	0.000000	T	0.76097	0.3940	M	0.81942	2.565	0.80722	D	1	D	0.76494	0.999	P	0.57548	0.823	T	0.79732	-0.1680	10	0.56958	D	0.05	-6.4792	14.9213	0.70841	0.0683:0.0:0.9317:0.0	.	139	Q9BW66	CINP_HUMAN	M	139;154	ENSP00000216756:T139M;ENSP00000442057:T154M	ENSP00000216756:T139M	T	-	2	0	CINP	101886029	1.000000	0.71417	0.849000	0.33467	0.626000	0.37791	5.706000	0.68362	1.517000	0.48917	0.655000	0.94253	ACG		0.418	CINP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415055.1	NM_032630		15	47	0	0	0	1	0	15	47					A	102816276	G	A	102816276	3	1	305	1	0	0	0	0	1	0	0	0	3431	1145	40	1	230	1	CINP	14	102816276	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	333926	102816276	4533264	761	15278											
C14orf180	400258	broad.mit.edu	37	chr14	105054176	105054176	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agccccagaggacctcgaggCgcgtgtggttccgagaaccc	8	5	14	14	4	0	2	0	0	0	2	2	5	1	3	5	3	2	1	5	3	1	1	rs139748841	byFrequency	TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr14:105054176C>T	ENST00000557649.1	+	3	538	c.202C>T	c.(202-204)Cgc>Tgc	p.R68C	RP11-614O9.1_ENST00000556073.1_RNA|C14orf180_ENST00000331952.2_Missense_Mutation_p.R68C|C14orf180_ENST00000410013.1_Missense_Mutation_p.R68C			Q8N912	NRAC_HUMAN	chromosome 14 open reading frame 180	68						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)							Melanoma(154;0.226)	all cancers(16;0.00405)|OV - Ovarian serous cystadenocarcinoma(23;0.0319)|Epithelial(46;0.0784)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.127)		GACCTCGAGGCGCGTGTGGTT	0.682																																						ENST00000557649.1																			0											c.(202-204)Cgc>Tgc		chromosome 14 open reading frame 180		C	CYS/ARG	0,4398		0,0,2199	28	34	32		202	2.6	0	14	dbSNP_134	32	4,8592		0,4,4294	yes	missense	C14orf180	NM_001008404.1	180	0,4,6493	TT,TC,CC		0.0465,0.0,0.0308	probably-damaging	68/161	105054176	4,12990	2199	4298	6497	SO:0001583	missense	400258					integral to membrane		g.chr14:105054176C>T		CCDS32166.1, CCDS66722.1	14q32.33	2012-11-12	2012-11-12	2012-11-12	ENSG00000184601	ENSG00000184601			33795	protein-coding gene	gene with protein product	"nutritionally-regulated adipose and cardiac-enriched"		"chromosome 14 open reading frame 77"	C14orf77		23029450	Standard	XM_005267638		Approved	NRAC	uc001yow.1	Q8N912	OTTHUMG00000029806	ENST00000557649.1:c.202C>T	14.37:g.105054176C>T	ENSP00000452502:p.Arg68Cys					C14orf180_ENST00000410013.1_Missense_Mutation_p.R68C|C14orf180_ENST00000331952.2_Missense_Mutation_p.R68C	p.R68C			Q8N912	CN180_HUMAN	all cancers(16;0.00405)|OV - Ovarian serous cystadenocarcinoma(23;0.0319)|Epithelial(46;0.0784)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.127)	3	538	+		Melanoma(154;0.226)	68						Missense_Mutation	SNP	ENST00000557649.1	37	c.202C>T	CCDS32166.1	.	.	.	.	.	.	.	.	.	.	C	15.40	2.821928	0.50633	0.0	4.65E-4	ENSG00000184601	ENST00000557649;ENST00000331952;ENST00000553873;ENST00000410013	.	.	.	2.61	2.61	0.31194	.	.	.	.	.	T	0.35128	0.0921	L	0.27053	0.805	0.09310	N	1	D;D;D	0.64830	0.994;0.983;0.983	P;P;P	0.53401	0.725;0.556;0.556	T	0.10497	-1.0627	8	0.72032	D	0.01	-10.6472	8.841	0.35142	0.0:1.0:0.0:0.0	.	68;68;68	B4DN93;G3V2Z8;Q8N912	.;.;CN180_HUMAN	C	68	.	ENSP00000333041:R68C	R	+	1	0	C14orf180	104125221	0.185000	0.23213	0.008000	0.14137	0.081000	0.17604	0.905000	0.28504	1.758000	0.51981	0.491000	0.48974	CGC		0.682	C14orf180-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410580.1	NM_001008404		4	13	0	0	0	1	0	4	13					T	105054176	C	T	105054176	3	4	305	1	0	0	0	0	1	0	0	0	1763	768	27	1	208	1	C14orf180	14	105054176	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	2237900	105054176	2295364	762	15279											
JAG2	3714	broad.mit.edu	37	chr14	105609046	105609046	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgcccctactccttgccggCgtagcgggcctcattgatgc	4	9	11	17	4	1	1	1	1	0	0	2	1	2	1	6	2	4	1	6	2	2	4	rs199682063	byFrequency	TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr14:105609046C>T	ENST00000331782.3	-	26	4106	c.3703G>A	c.(3703-3705)Gcc>Acc	p.A1235T	JAG2_ENST00000347004.2_Missense_Mutation_p.A1197T	NM_002226.4	NP_002217.3	Q9Y219	JAG2_HUMAN	jagged 2	1235				A -> V (in Ref. 2; AAB61285). {ECO:0000305}.	auditory receptor cell fate commitment (GO:0009912)|cell cycle (GO:0007049)|cell differentiation (GO:0030154)|epithelial cell apoptotic process involved in palatal shelf morphogenesis (GO:1990134)|gamma-delta T cell differentiation (GO:0042492)|in utero embryonic development (GO:0001701)|morphogenesis of embryonic epithelium (GO:0016331)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|odontogenesis of dentin-containing tooth (GO:0042475)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|respiratory system process (GO:0003016)|skeletal system development (GO:0001501)|spermatogenesis (GO:0007283)|T cell differentiation (GO:0030217)|thymic T cell selection (GO:0045061)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|growth factor activity (GO:0008083)|Notch binding (GO:0005112)			breast(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(7)|prostate(2)|skin(5)	22		all_cancers(154;0.0336)|all_epithelial(191;0.0729)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00989)|all cancers(16;0.0114)|Epithelial(46;0.0272)	Epithelial(152;0.047)|OV - Ovarian serous cystadenocarcinoma(161;0.148)|all cancers(159;0.208)		TCCTTGCCGGCGTAGCGGGCC	0.716													C|||	7	0.00139776	0.0038	0.0029	5008	,	,		10385	0		0	False		,,,				2504	0					ENST00000331782.3																			0				breast(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(7)|prostate(2)|skin(5)	22						c.(3703-3705)Gcc>Acc		jagged 2		C	THR/ALA,THR/ALA	37,4303		0,37,2133	8	9	8		3703,3589	0.6	0	14		8	1,8519		0,1,4259	yes	missense,missense	JAG2	NM_002226.3,NM_145159.1	58,58	0,38,6392	TT,TC,CC		0.0117,0.8525,0.2955	benign,benign	1235/1239,1197/1201	105609046	38,12822	2170	4260	6430	SO:0001583	missense	3714				auditory receptor cell fate commitment|cell communication|cell cycle|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation|spermatogenesis|thymic T cell selection	integral to plasma membrane	calcium ion binding|growth factor activity|Notch binding	g.chr14:105609046C>T	AF020201	CCDS9998.1, CCDS9999.1	14q32	2008-08-01			ENSG00000184916	ENSG00000184916			6189	protein-coding gene	gene with protein product		602570				9315665, 10662552	Standard	NM_002226		Approved		uc001yqg.4	Q9Y219	OTTHUMG00000140172	ENST00000331782.3:c.3703G>A	14.37:g.105609046C>T	ENSP00000328169:p.Ala1235Thr					JAG2_ENST00000347004.2_Missense_Mutation_p.A1197T	p.A1235T	NM_002226.4	NP_002217.3	Q9Y219	JAG2_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.00989)|all cancers(16;0.0114)|Epithelial(46;0.0272)	Epithelial(152;0.047)|OV - Ovarian serous cystadenocarcinoma(161;0.148)|all cancers(159;0.208)	26	4106	-		all_cancers(154;0.0336)|all_epithelial(191;0.0729)|Melanoma(154;0.155)	1235	A -> V (in Ref. 2; AAB61285).				Q9UE17|Q9UE99|Q9UNK8|Q9Y6P9|Q9Y6Q0	Missense_Mutation	SNP	ENST00000331782.3	37	c.3703G>A	CCDS9998.1	.	.	.	.	.	.	.	.	.	.	C	4.019	0.000859	0.07819	0.008525	1.17E-4	ENSG00000184916	ENST00000331782;ENST00000347004	D;D	0.86562	-2.14;-2.14	4.52	0.568	0.17333	.	1.179030	0.06262	N	0.694075	T	0.71151	0.3306	N	0.22421	0.69	0.09310	N	1	B;B	0.18741	0.03;0.017	B;B	0.12156	0.007;0.003	T	0.56408	-0.7984	10	0.23891	T	0.37	.	6.9851	0.24723	0.0:0.6264:0.128:0.2457	.	1197;1235	Q9Y219-2;Q9Y219	.;JAG2_HUMAN	T	1235;1197	ENSP00000328169:A1235T;ENSP00000328566:A1197T	ENSP00000328169:A1235T	A	-	1	0	JAG2	104680091	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	0.640000	0.24705	-0.198000	0.10333	-1.332000	0.01269	GCC		0.716	JAG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276506.2			6	8	0	0	0	1	0	6	8					T	105609046	C	T	105609046	3	4	305	1	0	0	0	0	1	0	0	0	7935	768	27	1	17	1	JAG2	14	105609046	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	554870	105609046	1740494	763	15280											
ATP10A	57194	broad.mit.edu	37	chr15	25953223	25953223	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tctaggtggctttgcaaccaGcaggcatactcttctttact	8	14	8	11	0	3	0	0	0	3	0	3	0	3	0	1	3	5	4	1	3	4	6			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr15:25953223G>A	ENST00000356865.6	-	12	2586	c.2475C>T	c.(2473-2475)tgC>tgT	p.C825C		NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN	ATPase, class V, type 10A	825					ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|regulation of cell shape (GO:0008360)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		TTTGCAACCAGCAGGCATACT	0.567																																						ENST00000356865.6																			0				NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103						c.(2473-2475)tgC>tgT		ATPase, class V, type 10A							79	73	75					15																	25953223		2203	4300	6503	SO:0001819	synonymous_variant	57194				ATP biosynthetic process|regulation of cell shape	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr15:25953223G>A	AB011138	CCDS32178.1	15q12	2010-04-20	2007-09-19		ENSG00000206190	ENSG00000206190		"ATPases / P-type"	13542	protein-coding gene	gene with protein product		605855	"ATPase, Class V, type 10C", "ATPase, Class V, type 10A"	ATP10C		11015572, 9628581	Standard	NM_024490		Approved	ATPVA, ATPVC, KIAA0566	uc010ayu.3	O60312		ENST00000356865.6:c.2475C>T	15.37:g.25953223G>A							p.C825C	NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)	12	2586	-		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)	825					Q4G0S9|Q969I4	Silent	SNP	ENST00000356865.6	37	c.2475C>T	CCDS32178.1																																																																																				0.567	ATP10A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414830.1	NM_024490		10	74	0	0	0	1	0	10	74					A	25953223	G	A	25953223	2	1	305	1	0	0	0	0	0	0	0	1	1116	963	34	3		3	ATP10A	15	25953223	Silent	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08		25953223	76578169	764	15281											
HERC2	8924	broad.mit.edu	37	chr15	28386876	28386876	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gcttgtttctaatataataaCctgttcatccactgcacaag	12	14	5	10	0	2	0	1	0	1	0	3	0	3	0	2	0	2	4	2	0	5	7			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr15:28386876C>A	ENST00000261609.7	-	77	11925		c.e77+1			NM_004667.5	NP_004658.3			HECT and RLD domain containing E3 ubiquitin protein ligase 2											NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		AATATAATAACCTGTTCATCC	0.418																																						ENST00000261609.7																			0				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204						c.e77+1		HECT and RLD domain containing E3 ubiquitin protein ligase 2							168	159	162					15																	28386876		2203	4300	6503	SO:0001630	splice_region_variant	8924				DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr15:28386876C>A	AF071172	CCDS10021.1	15q13	2012-02-23	2012-02-23		ENSG00000128731	ENSG00000128731			4868	protein-coding gene	gene with protein product		605837	"hect domain and RLD 2"			9949213	Standard	NM_004667		Approved	jdf2, p528, D15F37S1	uc001zbj.4	O95714	OTTHUMG00000129251	ENST00000261609.7:c.11816+1G>T	15.37:g.28386876C>A								NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)	77	11925	-		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)							Splice_Site	SNP	ENST00000261609.7	37		CCDS10021.1	.	.	.	.	.	.	.	.	.	.	C	17.80	3.478876	0.63849	.	.	ENSG00000128731	ENST00000261609	.	.	.	5.44	5.44	0.79542	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.2577	0.93952	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	HERC2	26060471	1.000000	0.71417	0.999000	0.59377	0.831000	0.47069	3.729000	0.54999	2.555000	0.86185	0.561000	0.74099	.		0.418	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251358.2	NM_004667	Intron	45	117	1	0	2.95478e-19	1	3.09494e-19	45	117					A	28386876	C	A	28386876	5	1	305	1	0	0	0	0	0	0	1	0	7058	521	18	5	2755	5	HERC2	15	28386876	Splice_Site	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	2433653	28386876	74144516	765	15282											
RYR3	6263	broad.mit.edu	37	chr15	34080521	34080523	+	In_Frame_Del	DEL	AGG	AGG	-																															aaaggctgtcaagacggtgcAggaggaggagcagttgaaag																										TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr15:34080521_34080523delAGG	ENST00000389232.4	+	67	9762_9764	c.9692_9694delAGG	c.(9691-9696)caggag>cag	p.E3234del	RYR3_ENST00000415757.3_In_Frame_Del_p.E3234del	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	3234					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		AAGACGGTGCAGGAGGAGGAGCA	0.557																																						ENST00000389232.4																			0				NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311						c.(9691-9696)cag>c		ryanodine receptor 3																																				SO:0001651	inframe_deletion	6263				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr15:34080521_34080523delAGG		CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"Ion channels / Ryanodine receptors", "EF-hand domain containing"	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.9692_9694delAGG	15.37:g.34080527_34080529delAGG	ENSP00000373884:p.Glu3234del					RYR3_ENST00000415757.3_In_Frame_Del_p.QE3231del	p.QE3231del	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)	67	9762_9764	+		all_lung(180;7.18e-09)	3231					O15175|Q15412	In_Frame_Del	DEL	ENST00000389232.4	37	c.9692_9694delAGG	CCDS45210.1																																																																																				0.557	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1			9	185						9	185	---	---	---	---	-	34080523	AGG	-	34080521	7	5	305	1	0	1	0	1	0	0	0	0	13770	188	7	0	9958	0	RYR3	15	34080521	In_Frame_Del	DEL	AGG	TCGA-KK-A59V-01A-11D-A29Q-08	5693645	34080521	68450871	766	15283											
C15orf55	256646	broad.mit.edu	37	chr15	34649163	34649163	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agagagtcaggagtcttacaCaactgggactcccaaagcaa	15	6	10	10	0	2	1	1	0	1	1	3	4	3	3	1	2	3	1	1	2	4	1			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr15:34649163C>T	ENST00000333756.4	+	7	3025	c.2870C>T	c.(2869-2871)aCa>aTa	p.T957I	NUTM1_ENST00000537011.1_Missense_Mutation_p.T985I|NUTM1_ENST00000438749.3_Missense_Mutation_p.T975I	NM_175741.1	NP_786883	Q86Y26	NUTM1_HUMAN	NUT midline carcinoma, family member 1	957						cytoplasm (GO:0005737)|nucleus (GO:0005634)											GAGTCTTACACAACTGGGACT	0.483																																						ENST00000537011.1																			0											c.(2953-2955)aCa>aTa		NUT midline carcinoma, family member 1							58	54	55					15																	34649163		2201	4298	6499	SO:0001583	missense	256646							g.chr15:34649163C>T	AF482429	CCDS32190.1, CCDS61584.1, CCDS61585.1	15q14	2014-01-28	2013-03-14	2013-03-14	ENSG00000184507	ENSG00000184507			29919	protein-coding gene	gene with protein product	"nuclear protein in testis"	608963	"chromosome 15 open reading frame 55"	C15orf55		12543779	Standard	NM_175741		Approved	NUT, DKFZp434O192, FAM22H	uc001zif.3	Q86Y26	OTTHUMG00000172348	ENST00000333756.4:c.2870C>T	15.37:g.34649163C>T	ENSP00000329448:p.Thr957Ile					NUTM1_ENST00000438749.3_Missense_Mutation_p.T975I|NUTM1_ENST00000333756.4_Missense_Mutation_p.T957I	p.T985I							8	3336	+								B4DZ00|B7Z7Y4|E7EVE8|F5H4I6|Q86YS8|Q8N7F2|Q9NTB3	Missense_Mutation	SNP	ENST00000333756.4	37	c.2954C>T	CCDS32190.1	.	.	.	.	.	.	.	.	.	.	C	10.32	1.318889	0.23994	.	.	ENSG00000184507	ENST00000537011;ENST00000438749;ENST00000333756	T;T;T	0.09163	3.01;3.02;3.01	4.74	2.84	0.33178	.	0.842078	0.10281	N	0.693479	T	0.12603	0.0306	L	0.50333	1.59	0.09310	N	1	B;B;B	0.32693	0.262;0.38;0.267	B;B;B	0.37267	0.124;0.245;0.116	T	0.30090	-0.9990	10	0.52906	T	0.07	.	6.3213	0.21219	0.0:0.7138:0.1863:0.0999	.	975;985;957	E7EVE8;F5H4I6;Q86Y26	.;.;NUT_HUMAN	I	985;975;957	ENSP00000444896:T985I;ENSP00000407031:T975I;ENSP00000329448:T957I	ENSP00000329448:T957I	T	+	2	0	C15orf55	32436455	0.001000	0.12720	0.000000	0.03702	0.007000	0.05969	0.983000	0.29552	0.613000	0.30089	0.655000	0.94253	ACA		0.483	NUTM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418026.1	NM_175741		16	39	0	0	0	1	0	16	39					T	34649163	C	T	34649163	3	4	305	1	0	0	0	0	1	0	0	0	1803	478	17	3	2896	3	C15orf55	15	34649163	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	568642	34649163	67882229	767	15284											
LPCAT4	254531	broad.mit.edu	37	chr15	34657848	34657848	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggccagaggagaaagaggaCgataaaggccagaagcactc	16	2	15	8	1	0	4	0	0	0	4	1	7	0	5	2	4	1	1	2	4	4	1			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr15:34657848C>T	ENST00000314891.6	-	2	346	c.169G>A	c.(169-171)Gtc>Atc	p.V57I	LPCAT4_ENST00000562431.1_5'UTR	NM_153613.2	NP_705841.2	Q643R3	LPCT4_HUMAN	lysophosphatidylcholine acyltransferase 4	57					cellular lipid metabolic process (GO:0044255)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	1-acylglycerophosphocholine O-acyltransferase activity (GO:0047184)|1-alkenylglycerophosphoethanolamine O-acyltransferase activity (GO:0047166)|1-alkylglycerophosphocholine O-acetyltransferase activity (GO:0047192)|calcium ion binding (GO:0005509)|lysophospholipid acyltransferase activity (GO:0071617)			NS(1)|breast(1)|large_intestine(2)|lung(5)|prostate(1)	10						AGAAAGAGGACGATAAAGGCC	0.552																																						ENST00000314891.6																			0				NS(1)|breast(1)|large_intestine(2)|lung(5)|prostate(1)	10						c.(169-171)Gtc>Atc		lysophosphatidylcholine acyltransferase 4							77	78	78					15																	34657848		2201	4298	6499	SO:0001583	missense	254531				phospholipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	acyltransferase activity|calcium ion binding	g.chr15:34657848C>T	AF542964	CCDS32191.1	15q14	2008-07-02	2008-06-24	2008-06-24		ENSG00000176454			30059	protein-coding gene	gene with protein product	"lysophosphatidylethanolamine acyltransferase 2"	612039	"acyltransferase like 3", "1-acylglycerol-3-phosphate O-acyltransferase 7 (lysophosphatidic acid acyltransferase, eta)"	AYTL3, AGPAT7		8619474, 9110174, 16243729, 18458083	Standard	XR_243087		Approved	FLJ10257, LPAAT-eta, LPEAT2	uc001zig.3	Q643R3		ENST00000314891.6:c.169G>A	15.37:g.34657848C>T	ENSP00000317300:p.Val57Ile					LPCAT4_ENST00000562431.1_5'UTR	p.V57I	NM_153613.2	NP_705841.2	Q643R3	LPCT4_HUMAN			2	346	-			57					A8K2K8|O43412|Q7Z4P4|Q8IUL7|Q8TB38	Missense_Mutation	SNP	ENST00000314891.6	37	c.169G>A	CCDS32191.1	.	.	.	.	.	.	.	.	.	.	.	11.73	1.726680	0.30593	.	.	ENSG00000176454	ENST00000314891	T	0.81163	-1.46	5.76	3.9	0.45041	.	0.159570	0.53938	N	0.000042	T	0.60495	0.2273	N	0.19112	0.55	0.29977	N	0.818057	B;B	0.09022	0.0;0.002	B;B	0.04013	0.0;0.001	T	0.48547	-0.9026	10	0.07175	T	0.84	-14.4833	6.2842	0.21023	0.1489:0.6963:0.0:0.1548	.	57;57	B7ZM32;Q643R3	.;LPCT4_HUMAN	I	57	ENSP00000317300:V57I	ENSP00000317300:V57I	V	-	1	0	LPCAT4	32445140	0.211000	0.23529	0.995000	0.50966	0.996000	0.88848	0.229000	0.17833	0.798000	0.33994	0.555000	0.69702	GTC		0.552	LPCAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418028.2	NM_153613		18	31	0	0	0	1	0	18	31					T	34657848	C	T	34657848	3	4	305	1	0	0	0	0	1	0	0	0	8913	536	19	1	1457	1	LPCAT4	15	34657848	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	8685	34657848	67873544	768	15285											
C15orf54	400360	broad.mit.edu	37	chr15	39544513	39544513	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agagccactcatcacatgacGgagctccctctcaggttcct	9	9	8	15	1	3	2	3	1	1	1	6	3	5	3	3	2	2	2	3	2	0	1			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr15:39544513G>A	ENST00000318578.3	+	2	545	c.177G>A	c.(175-177)acG>acA	p.T59T	RP11-624L4.1_ENST00000561058.1_RNA|RP11-624L4.1_ENST00000558209.1_RNA|RP11-624L4.1_ENST00000560484.1_RNA|C15orf54_ENST00000561223.1_Silent_p.T59T	NM_207445.2	NP_997328.1	Q8N8G6	CO054_HUMAN	chromosome 15 open reading frame 54	59			T -> M (in dbSNP:rs11853050). {ECO:0000269|PubMed:15489334}.							NS(1)|haematopoietic_and_lymphoid_tissue(2)|lung(2)	5		all_cancers(109;5.39e-14)|all_epithelial(112;3.14e-12)|Lung NSC(122;9.74e-10)|all_lung(180;2.23e-08)|Melanoma(134;0.091)|Colorectal(260;0.198)		GBM - Glioblastoma multiforme(113;1.19e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0706)		ATCACATGACGGAGCTCCCTC	0.438																																						ENST00000318578.3																			0				NS(1)|haematopoietic_and_lymphoid_tissue(2)|lung(2)	5						c.(175-177)acG>acA		chromosome 15 open reading frame 54							249	250	249					15																	39544513		2200	4297	6497	SO:0001819	synonymous_variant	400360							g.chr15:39544513G>A		CCDS10049.1	15q14	2014-09-10			ENSG00000175746	ENSG00000175746			33797	protein-coding gene	gene with protein product							Standard	NM_207445		Approved	FLJ39531	uc001zkg.2	Q8N8G6	OTTHUMG00000129843	ENST00000318578.3:c.177G>A	15.37:g.39544513G>A						RP11-624L4.1_ENST00000560484.1_RNA|C15orf54_ENST00000561223.1_Silent_p.T59T|RP11-624L4.1_ENST00000558209.1_RNA|RP11-624L4.1_ENST00000561058.1_RNA	p.T59T	NM_207445.2	NP_997328.1	Q8N8G6	CO054_HUMAN		GBM - Glioblastoma multiforme(113;1.19e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0706)	2	545	+		all_cancers(109;5.39e-14)|all_epithelial(112;3.14e-12)|Lung NSC(122;9.74e-10)|all_lung(180;2.23e-08)|Melanoma(134;0.091)|Colorectal(260;0.198)	59		T -> M (in dbSNP:rs11853050).			B7ZVZ9	Silent	SNP	ENST00000318578.3	37	c.177G>A	CCDS10049.1																																																																																				0.438	C15orf54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252083.1	NM_207445		122	311	0	0	0	1	0	122	311					A	39544513	G	A	39544513	2	1	305	1	0	0	0	0	0	0	0	1	1802	1103	39	2		2	C15orf54	15	39544513	Silent	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	4886665	39544513	62986879	769	15286											
EIF2AK4	440275	broad.mit.edu	37	chr15	40294929	40294929	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tttagggcaacttctcaatcCgtacagccaagatgcagcag	12	9	9	11	1	1	1	1	0	1	1	3	1	2	1	2	1	5	4	2	1	5	4	rs201056702		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr15:40294929C>T	ENST00000263791.5	+	22	3218	c.3175C>T	c.(3175-3177)Cgt>Tgt	p.R1059C	EIF2AK4_ENST00000382727.2_Missense_Mutation_p.R1031C|EIF2AK4_ENST00000559311.1_3'UTR	NM_001013703.2	NP_001013725.2	Q9P2K8	E2AK4_HUMAN	eukaryotic translation initiation factor 2 alpha kinase 4	1059	Histidyl-tRNA synthetase-like.				cellular response to starvation (GO:0009267)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of translation (GO:0017148)|protein phosphorylation (GO:0006468)|regulation of translational initiation (GO:0006446)|regulation of translational initiation in response to stress (GO:0043558)	cytosolic ribosome (GO:0022626)	ATP binding (GO:0005524)|eukaryotic translation initiation factor 2alpha kinase activity (GO:0004694)|protein serine/threonine kinase activity (GO:0004674)	p.R1059S(1)		NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)	40		all_cancers(109;1.05e-19)|all_epithelial(112;4.38e-17)|Lung NSC(122;1.09e-12)|all_lung(180;3.56e-11)|Melanoma(134;0.0575)|Ovarian(310;0.0826)|Colorectal(260;0.119)		GBM - Glioblastoma multiforme(113;5.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0616)		CTTCTCAATCCGTACAGCCAA	0.383																																						ENST00000263791.5																			1	Substitution - Missense(1)	p.R1059S(1)	lung(1)	NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)	40						c.(3175-3177)Cgt>Tgt		eukaryotic translation initiation factor 2 alpha kinase 4		C	CYS/ARG	0,3848		0,0,1924	190	185	186		3175	4.6	0.4	15		186	3,8277		0,3,4137	yes	missense	EIF2AK4	NM_001013703.2	180	0,3,6061	TT,TC,CC		0.0362,0.0,0.0247	probably-damaging	1059/1650	40294929	3,12125	1924	4140	6064	SO:0001583	missense	440275				translation	cytosolic ribosome	aminoacyl-tRNA ligase activity|ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|protein homodimerization activity	g.chr15:40294929C>T	AB037759	CCDS42016.1	15q13.3	2008-08-18				ENSG00000128829			19687	protein-coding gene	gene with protein product		609280				10504407	Standard	XM_005254392		Approved	GCN2, KIAA1338	uc001zkm.1	Q9P2K8		ENST00000263791.5:c.3175C>T	15.37:g.40294929C>T	ENSP00000263791:p.Arg1059Cys					EIF2AK4_ENST00000559311.1_3'UTR|EIF2AK4_ENST00000382727.2_Missense_Mutation_p.R1031C	p.R1059C	NM_001013703.2	NP_001013725.2	Q9P2K8	E2AK4_HUMAN		GBM - Glioblastoma multiforme(113;5.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0616)	22	3218	+		all_cancers(109;1.05e-19)|all_epithelial(112;4.38e-17)|Lung NSC(122;1.09e-12)|all_lung(180;3.56e-11)|Melanoma(134;0.0575)|Ovarian(310;0.0826)|Colorectal(260;0.119)	1059			Histidyl-tRNA synthetase-like.		C9JEC4|Q69YL7|Q6DC97|Q96GN6|Q9H5K1|Q9NSQ3|Q9NSZ5|Q9UJ56	Missense_Mutation	SNP	ENST00000263791.5	37	c.3175C>T	CCDS42016.1	.	.	.	.	.	.	.	.	.	.	C	17.50	3.404882	0.62288	0.0	3.62E-4	ENSG00000128829	ENST00000263791;ENST00000382727	T;T	0.46451	0.87;0.87	5.57	4.64	0.57946	.	0.311326	0.37136	N	0.002224	T	0.48995	0.1531	L	0.36672	1.1	0.46061	D	0.998846	D	0.76494	0.999	P	0.62885	0.908	T	0.47433	-0.9118	10	0.52906	T	0.07	-4.5484	10.2553	0.43394	0.0:0.7828:0.1384:0.0788	.	1059	Q9P2K8	E2AK4_HUMAN	C	1059;1031	ENSP00000263791:R1059C;ENSP00000372174:R1031C	ENSP00000263791:R1059C	R	+	1	0	EIF2AK4	38082221	0.984000	0.35163	0.392000	0.26245	0.990000	0.78478	1.569000	0.36428	1.318000	0.45170	-0.282000	0.10007	CGT		0.383	EIF2AK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418395.1			41	88	0	0	0	1	0	41	88					T	40294929	C	T	40294929	3	4	305	1	0	0	0	0	1	0	0	0	4999	652	23	2	3261	2	EIF2AK4	15	40294929	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	750416	40294929	62236463	770	15287											
SRP14	6727	broad.mit.edu	37	chr15	40330494	40330496	+	In_Frame_Del	DEL	TCT	TCT	-																															taagctcaccacagtgctgaTcttcttcttcccatcggtag																								rs201924463		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr15:40330494_40330496delTCT	ENST00000267884.6	-	3	268_270	c.197_199delAGA	c.(196-201)aagatc>atc	p.K66del	SRP14_ENST00000558527.1_5'UTR|SRP14-AS1_ENST00000504245.1_lincRNA|SRP14_ENST00000558720.1_5'UTR|SRP14_ENST00000559081.1_In_Frame_Del_p.K66del|SRP14_ENST00000560773.1_5'UTR	NM_003134.4	NP_003125.3	P37108	SRP14_HUMAN	signal recognition particle 14kDa (homologous Alu RNA binding protein)	66					cellular protein metabolic process (GO:0044267)|cotranslational protein targeting to membrane (GO:0006613)|gene expression (GO:0010467)|protein targeting to ER (GO:0045047)|response to drug (GO:0042493)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intercellular bridge (GO:0045171)|nucleolus (GO:0005730)|nucleus (GO:0005634)|signal recognition particle, endoplasmic reticulum targeting (GO:0005786)	7S RNA binding (GO:0008312)|endoplasmic reticulum signal peptide binding (GO:0030942)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(1)|skin(1)|upper_aerodigestive_tract(1)	3		all_cancers(109;7.56e-18)|all_epithelial(112;4.02e-15)|Lung NSC(122;5.63e-11)|all_lung(180;1.4e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;1.84e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0505)		ACAGTGCTGATCTTCTTCTTCCC	0.453																																						ENST00000267884.6																			0				endometrium(1)|skin(1)|upper_aerodigestive_tract(1)	3						c.(196-201)atc>a		signal recognition particle 14kDa (homologous Alu RNA binding protein)																																				SO:0001651	inframe_deletion	6727				negative regulation of translational elongation|response to drug|SRP-dependent cotranslational protein targeting to membrane	cytosol|signal recognition particle, endoplasmic reticulum targeting	7S RNA binding|endoplasmic reticulum signal peptide binding|protein binding	g.chr15:40330494_40330496delTCT		CCDS42017.1	15q22	2008-08-15	2002-08-29		ENSG00000140319	ENSG00000140319			11299	protein-coding gene	gene with protein product		600708	"signal recognition particle 14kD (homologous Alu RNA-binding protein)"			8196634	Standard	NM_003134		Approved	ALURBP, MGC14326	uc001zkq.2	P37108		ENST00000267884.6:c.197_199delAGA	15.37:g.40330500_40330502delTCT	ENSP00000267884:p.Lys66del					SRP14_ENST00000560773.1_5'UTR|SRP14_ENST00000558720.1_5'UTR|SRP14_ENST00000558527.1_5'UTR|SRP14_ENST00000559081.1_In_Frame_Del_p.KI66del	p.KI66del	NM_003134.4	NP_003125.3	P37108	SRP14_HUMAN		GBM - Glioblastoma multiforme(113;1.84e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0505)	3	268_270	-		all_cancers(109;7.56e-18)|all_epithelial(112;4.02e-15)|Lung NSC(122;5.63e-11)|all_lung(180;1.4e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)	66					B5BUF5|Q6B0K5|Q96Q14	In_Frame_Del	DEL	ENST00000267884.6	37	c.197_199delAGA	CCDS42017.1																																																																																				0.453	SRP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418262.2	NM_003134		15	61						15	61	---	---	---	---	-	40330496	TCT	-	40330494	7	5	305	1	0	1	0	1	0	0	0	0	15152	1435	50	0	223	0	SRP14	15	40330494	In_Frame_Del	DEL	TCT	TCGA-KK-A59V-01A-11D-A29Q-08	35565	40330494	62200898	771	15288											
RAD51	5888	broad.mit.edu	37	chr15	40993313	40993313	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aattggaagaagctggattcCatactgtggaggctgttgcc	10	11	13	7	0	0	1	0	0	0	1	1	4	1	4	2	4	3	3	2	4	4	4			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr15:40993313C>A	ENST00000267868.3	+	3	407	c.139C>A	c.(139-141)Cat>Aat	p.H47N	RAD51_ENST00000382643.3_Missense_Mutation_p.H47N|RAD51_ENST00000423169.2_Missense_Mutation_p.H47N|RAD51_ENST00000532743.1_Missense_Mutation_p.H47N|RAD51_ENST00000557850.1_Missense_Mutation_p.H47N	NM_002875.4	NP_002866.2	Q06609	RAD51_HUMAN	RAD51 recombinase	47					ATP catabolic process (GO:0006200)|cellular response to camptothecin (GO:0072757)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to ionizing radiation (GO:0071479)|DNA recombinase assembly (GO:0000730)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA unwinding involved in DNA replication (GO:0006268)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|meiotic nuclear division (GO:0007126)|mitotic recombination (GO:0006312)|positive regulation of DNA ligation (GO:0051106)|protein homooligomerization (GO:0051260)|reciprocal meiotic recombination (GO:0007131)|regulation of double-strand break repair via homologous recombination (GO:0010569)	condensed chromosome (GO:0000793)|condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|lateral element (GO:0000800)|mitochondrion (GO:0005739)|nuclear chromosome (GO:0000228)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|PML body (GO:0016605)	ATP binding (GO:0005524)|damaged DNA binding (GO:0003684)|DNA polymerase binding (GO:0070182)|double-stranded DNA binding (GO:0003690)|identical protein binding (GO:0042802)|protein C-terminus binding (GO:0008022)|single-stranded DNA binding (GO:0003697)|single-stranded DNA-dependent ATPase activity (GO:0043142)			breast(2)|endometrium(1)|kidney(3)|large_intestine(1)|lung(1)|ovary(1)	9		all_cancers(109;1.19e-18)|all_epithelial(112;2.33e-15)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;1.45e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000421)|COAD - Colon adenocarcinoma(120;0.163)		AGCTGGATTCCATACTGTGGA	0.383								Homologous recombination																														ENST00000267868.3																			0				breast(2)|endometrium(1)|kidney(3)|large_intestine(1)|lung(1)|ovary(1)	9						c.(139-141)Cat>Aat	Homologous recombination	RAD51 recombinase							107	110	109					15																	40993313		2203	4300	6503	SO:0001583	missense	5888				DNA recombinase assembly|DNA unwinding involved in replication|mitotic recombination|positive regulation of DNA ligation|protein homooligomerization|reciprocal meiotic recombination	mitochondrial matrix|nucleus|perinuclear region of cytoplasm|PML body	ATP binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|protein C-terminus binding|single-stranded DNA binding|single-stranded DNA-dependent ATPase activity	g.chr15:40993313C>A	D13804	CCDS10062.1, CCDS53931.1, CCDS53932.1	15q15.1	2014-06-12	2013-07-02		ENSG00000051180	ENSG00000051180			9817	protein-coding gene	gene with protein product	"BRCA1/BRCA2-containing complex, subunit 5"	179617	"RAD51 (S. cerevisiae) homolog (E coli RecA homolog)", "RAD51 homolog (RecA homolog, E. coli) (S. cerevisiae)", "RAD51 homolog (S. cerevisiae)"	RAD51A, RECA		8358431, 8479919	Standard	NM_002875		Approved	HsRad51, HsT16930, BRCC5	uc010bbx.3	Q06609	OTTHUMG00000130067	ENST00000267868.3:c.139C>A	15.37:g.40993313C>A	ENSP00000267868:p.His47Asn					RAD51_ENST00000532743.1_Missense_Mutation_p.H47N|RAD51_ENST00000557850.1_Missense_Mutation_p.H47N|RAD51_ENST00000382643.3_Missense_Mutation_p.H47N|RAD51_ENST00000423169.2_Missense_Mutation_p.H47N	p.H47N	NM_002875.4	NP_002866.2	Q06609	RAD51_HUMAN		GBM - Glioblastoma multiforme(113;1.45e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000421)|COAD - Colon adenocarcinoma(120;0.163)	3	407	+		all_cancers(109;1.19e-18)|all_epithelial(112;2.33e-15)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)	47					B0FXP0|B2R8T6|Q6FHX9|Q6ZNA8|Q9BV60	Missense_Mutation	SNP	ENST00000267868.3	37	c.139C>A	CCDS10062.1	.	.	.	.	.	.	.	.	.	.	C	18.52	3.641616	0.67244	.	.	ENSG00000051180	ENST00000527860;ENST00000423169;ENST00000382642;ENST00000267868;ENST00000532743;ENST00000382643;ENST00000526763	T;T;T;T;T;T	0.52526	1.02;0.66;1.06;1.17;1.17;1.02	6.04	6.04	0.98038	DNA repair Rad51/transcription factor NusA, alpha-helical (1);	0.000000	0.85682	D	0.000000	T	0.38214	0.1032	N	0.20610	0.595	0.80722	D	1	B;B;B	0.13594	0.008;0.002;0.002	B;B;B	0.20955	0.032;0.005;0.002	T	0.10613	-1.0622	10	0.23891	T	0.37	-15.5731	20.5948	0.99439	0.0:1.0:0.0:0.0	.	47;47;47	Q06609-3;Q6ZNA8;Q06609	.;.;RAD51_HUMAN	N	47	ENSP00000432759:H47N;ENSP00000406602:H47N;ENSP00000267868:H47N;ENSP00000433924:H47N;ENSP00000372088:H47N;ENSP00000431897:H47N	ENSP00000267868:H47N	H	+	1	0	RAD51	38780605	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.696000	0.84270	2.873000	0.98535	0.563000	0.77884	CAT		0.383	RAD51-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000252358.1	NM_002875, NM_133487		31	69	1	0	4.74835e-14	1	4.95919e-14	31	69					A	40993313	C	A	40993313	3	1	305	1	0	0	0	0	1	0	0	0	12985	594	21	5	145	5	RAD51	15	40993313	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	662819	40993313	61538079	772	15289											
SPINT1	6692	broad.mit.edu	37	chr15	41145959	41145959	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgccggggctctttcccaCgctggtactatgaccccacg	5	9	11	16	3	1	1	0	1	1	0	2	1	2	1	4	3	2	4	4	3	2	3			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr15:41145959C>T	ENST00000344051.4	+	5	1027	c.793C>T	c.(793-795)Cgc>Tgc	p.R265C	SPINT1_ENST00000431806.1_Missense_Mutation_p.R265C|SPINT1_ENST00000562057.1_Missense_Mutation_p.R265C			O43278	SPIT1_HUMAN	serine peptidase inhibitor, Kunitz type 1	265	BPTI/Kunitz inhibitor 1. {ECO:0000255|PROSITE-ProRule:PRU00031}.				branching involved in labyrinthine layer morphogenesis (GO:0060670)|extracellular matrix organization (GO:0030198)|negative regulation of endopeptidase activity (GO:0010951)|placenta blood vessel development (GO:0060674)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	serine-type endopeptidase inhibitor activity (GO:0004867)			central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	16		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;2.91e-05)|COAD - Colon adenocarcinoma(120;0.153)|BRCA - Breast invasive adenocarcinoma(123;0.166)		CTCTTTCCCACGCTGGTACTA	0.577																																						ENST00000344051.4																			0				central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	16						c.(793-795)Cgc>Tgc		serine peptidase inhibitor, Kunitz type 1							91	92	92					15																	41145959		2203	4300	6503	SO:0001583	missense	6692					extracellular region|membrane fraction	protein binding|serine-type endopeptidase inhibitor activity	g.chr15:41145959C>T		CCDS10067.1, CCDS45231.1	15q13.3	2008-02-05	2005-08-17		ENSG00000166145	ENSG00000166145			11246	protein-coding gene	gene with protein product		605123	"serine protease inhibitor, Kunitz type 1"				Standard	XM_006720657		Approved	HAI, MANSC2	uc001zna.3	O43278	OTTHUMG00000130068	ENST00000344051.4:c.793C>T	15.37:g.41145959C>T	ENSP00000342098:p.Arg265Cys					SPINT1_ENST00000431806.1_Missense_Mutation_p.R265C|SPINT1_ENST00000562057.1_Missense_Mutation_p.R265C	p.R265C			O43278	SPIT1_HUMAN		GBM - Glioblastoma multiforme(113;2.91e-05)|COAD - Colon adenocarcinoma(120;0.153)|BRCA - Breast invasive adenocarcinoma(123;0.166)	5	1027	+		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)	265			BPTI/Kunitz inhibitor 1.		Q7Z7D2	Missense_Mutation	SNP	ENST00000344051.4	37	c.793C>T	CCDS10067.1	.	.	.	.	.	.	.	.	.	.	C	18.26	3.584250	0.65992	.	.	ENSG00000166145	ENST00000344051;ENST00000536281;ENST00000431806	T;T	0.63096	-0.02;-0.02	5.4	4.45	0.53987	Proteinase inhibitor I2, Kunitz metazoa (5);	0.000000	0.85682	D	0.000000	D	0.87216	0.6122	H	0.98918	4.37	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;0.999	D	0.92046	0.5644	10	0.87932	D	0	-34.854	15.1127	0.72372	0.1423:0.8577:0.0:0.0	.	265;265;265	B2RBU9;O43278-2;O43278	.;.;SPIT1_HUMAN	C	265;232;265	ENSP00000342098:R265C;ENSP00000409935:R265C	ENSP00000342098:R265C	R	+	1	0	SPINT1	38933251	1.000000	0.71417	0.999000	0.59377	0.171000	0.22731	5.899000	0.69846	2.536000	0.85505	0.491000	0.48974	CGC		0.577	SPINT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252359.2	NM_003710		12	171	0	0	0	1	0	12	171					T	41145959	C	T	41145959	3	4	305	1	0	0	0	0	1	0	0	0	15067	536	19	1	807	1	SPINT1	15	41145959	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	152646	41145959	61385433	773	15290											
PLA2G4D	283748	broad.mit.edu	37	chr15	42363730	42363730	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcatccagcaggttcagggaGaaaatgttgctccagatggc	11	8	13	9	0	1	2	1	0	0	2	3	3	3	2	2	3	2	5	2	3	2	2			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr15:42363730G>A	ENST00000290472.3	-	16	1687	c.1593C>T	c.(1591-1593)ttC>ttT	p.F531F		NM_178034.3	NP_828848.3	Q86XP0	PA24D_HUMAN	phospholipase A2, group IVD (cytosolic)	531	PLA2c. {ECO:0000255|PROSITE- ProRule:PRU00555}.				glycerophospholipid biosynthetic process (GO:0046474)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid catabolic process (GO:0009395)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|membrane (GO:0016020)	metal ion binding (GO:0046872)|phospholipase A2 activity (GO:0004623)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(7)|ovary(1)|skin(2)|stomach(1)	27		all_cancers(109;6.37e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.019)|Ovarian(310;0.143)|Colorectal(260;0.245)		OV - Ovarian serous cystadenocarcinoma(18;4.9e-17)|GBM - Glioblastoma multiforme(94;1.02e-06)		GGTTCAGGGAGAAAATGTTGC	0.567																																						ENST00000290472.3																			0				NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(7)|ovary(1)|skin(2)|stomach(1)	27						c.(1591-1593)ttC>ttT		phospholipase A2, group IVD (cytosolic)							83	73	76					15																	42363730		2203	4299	6502	SO:0001819	synonymous_variant	283748				phospholipid catabolic process	cytoplasmic vesicle membrane|cytosol	metal ion binding|phospholipase A2 activity	g.chr15:42363730G>A	AB090876	CCDS32203.1	15q14	2008-09-19				ENSG00000159337	3.1.1.4		30038	protein-coding gene	gene with protein product		612864				14709560	Standard	NM_178034		Approved	cPLA2delta	uc001zox.3	Q86XP0		ENST00000290472.3:c.1593C>T	15.37:g.42363730G>A							p.F531F	NM_178034.3	NP_828848.3	Q86XP0	PA24D_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;4.9e-17)|GBM - Glioblastoma multiforme(94;1.02e-06)	16	1687	-		all_cancers(109;6.37e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.019)|Ovarian(310;0.143)|Colorectal(260;0.245)	531			PLA2c.		Q8N176	Silent	SNP	ENST00000290472.3	37	c.1593C>T	CCDS32203.1																																																																																				0.567	PLA2G4D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419317.1	NM_178034		20	41	0	0	0	1	0	20	41					A	42363730	G	A	42363730	2	1	305	1	0	0	0	0	0	0	0	1	12004	933	33	3		3	PLA2G4D	15	42363730	Silent	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	1217771	42363730	60167662	774	15291											
TMEM62	80021	broad.mit.edu	37	chr15	43443992	43443992	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	attatctggtctttaggtacCggatttttgcttttgatcac	7	19	8	7	1	3	1	1	1	2	0	3	2	3	2	1	3	2	2	1	3	3	8			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr15:43443992C>T	ENST00000260403.2	+	8	1150	c.871C>T	c.(871-873)Cgg>Tgg	p.R291W		NM_024956.3	NP_079232.3	Q0P6H9	TMM62_HUMAN	transmembrane protein 62	291						integral component of membrane (GO:0016021)				breast(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	18		all_cancers(109;1.16e-10)|all_epithelial(112;2.01e-09)|Lung NSC(122;8.91e-07)|all_lung(180;8.8e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;4.23e-07)		CTTTAGGTACCGGATTTTTGC	0.353																																						ENST00000260403.2																			0				breast(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						c.(871-873)Cgg>Tgg		transmembrane protein 62							206	187	194					15																	43443992		2203	4299	6502	SO:0001583	missense	80021					integral to membrane		g.chr15:43443992C>T	BC009981	CCDS32210.1	15q15.2	2014-09-11			ENSG00000137842	ENSG00000137842			26269	protein-coding gene	gene with protein product							Standard	NM_024956		Approved	FLJ23375	uc001zqr.3	Q0P6H9	OTTHUMG00000176485	ENST00000260403.2:c.871C>T	15.37:g.43443992C>T	ENSP00000260403:p.Arg291Trp						p.R291W	NM_024956.3	NP_079232.3	Q0P6H9	TMM62_HUMAN		GBM - Glioblastoma multiforme(94;4.23e-07)	8	1150	+		all_cancers(109;1.16e-10)|all_epithelial(112;2.01e-09)|Lung NSC(122;8.91e-07)|all_lung(180;8.8e-06)|Melanoma(134;0.0728)	291					Q6I9Y5|Q9H5J6	Missense_Mutation	SNP	ENST00000260403.2	37	c.871C>T	CCDS32210.1	.	.	.	.	.	.	.	.	.	.	C	19.35	3.810664	0.70797	.	.	ENSG00000137842	ENST00000260403	T	0.60797	0.16	5.24	4.26	0.50523	.	0.047415	0.85682	D	0.000000	T	0.80226	0.4584	M	0.90922	3.16	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.84664	0.0708	10	0.72032	D	0.01	-11.3341	14.9595	0.71144	0.2407:0.7593:0.0:0.0	.	291	Q0P6H9	TMM62_HUMAN	W	291	ENSP00000260403:R291W	ENSP00000260403:R291W	R	+	1	2	TMEM62	41231284	1.000000	0.71417	1.000000	0.80357	0.789000	0.44602	2.881000	0.48538	2.600000	0.87896	0.555000	0.69702	CGG		0.353	TMEM62-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432227.1	NM_024956		9	107	0	0	0	1	0	9	107					T	43443992	C	T	43443992	3	4	305	1	0	0	0	0	1	0	0	0	16186	643	23	2	901	2	TMEM62	15	43443992	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	1080262	43443992	59087400	775	15292											
TP53BP1	7158	broad.mit.edu	37	chr15	43714237	43714237	+	Frame_Shift_Del	DEL	C	C	-																															ggaggagaaggagctgatatCccccaggtcacctgaggagc																										TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr15:43714237delC	ENST00000263801.3	-	19	4153	c.3901delG	c.(3901-3903)gatfs	p.D1301fs	TP53BP1_ENST00000450115.2_Frame_Shift_Del_p.D1306fs|TP53BP1_ENST00000382039.3_Frame_Shift_Del_p.D1306fs|TP53BP1_ENST00000382044.4_Frame_Shift_Del_p.D1306fs	NM_005657.2	NP_005648.1	Q12888	TP53B_HUMAN	tumor protein p53 binding protein 1	1301					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|replication fork (GO:0005657)	damaged DNA binding (GO:0003684)|methylated histone binding (GO:0035064)|p53 binding (GO:0002039)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II transcription cofactor activity (GO:0001104)|telomeric DNA binding (GO:0042162)			breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3)	72		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;1.59e-06)		GAGCTGATATCCCCCAGGTCA	0.527								Other conserved DNA damage response genes																														ENST00000263801.3																			0				breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3)	72						c.(3901-3903)atfs	Other conserved DNA damage response genes	tumor protein p53 binding protein 1							107	107	107					15																	43714237		2201	4298	6499	SO:0001589	frameshift_variant	7158				double-strand break repair via homologous recombination|positive regulation of transcription from RNA polymerase II promoter	condensed chromosome kinetochore|cytoplasm|nucleoplasm	p53 binding|RNA polymerase II activating transcription factor binding|RNA polymerase II transcription cofactor activity	g.chr15:43714237delC	U09477	CCDS10096.1, CCDS45250.1, CCDS45251.1	15q15-q21	2007-08-02	2007-08-02		ENSG00000067369	ENSG00000067369			11999	protein-coding gene	gene with protein product		605230	"tumor protein p53-binding protein, 1"			8016121, 9748285	Standard	NM_005657		Approved	53BP1, p202	uc001zrr.4	Q12888	OTTHUMG00000059757	ENST00000263801.3:c.3901delG	15.37:g.43714237delC	ENSP00000263801:p.Asp1301fs					TP53BP1_ENST00000382039.3_Frame_Shift_Del_p.D1306fs|TP53BP1_ENST00000382044.4_Frame_Shift_Del_p.D1306fs|TP53BP1_ENST00000450115.2_Frame_Shift_Del_p.D1306fs	p.D1301fs	NM_005657.2	NP_005648.1	Q12888	TP53B_HUMAN		GBM - Glioblastoma multiforme(94;1.59e-06)	19	4153	-		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)	1301					F8VY86|Q2M1Z7|Q4LE46|Q5FWZ3|Q7Z3U4	Frame_Shift_Del	DEL	ENST00000263801.3	37	c.3901delG	CCDS10096.1																																																																																				0.527	TP53BP1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000132897.3			7	127						7	127	---	---	---	---	-	43714237	C	-	43714237	7	5	305	1	0	1	0	1	0	0	0	0	16380	855	30	0	2057	0	TP53BP1	15	43714237	Frame_Shift_Del	DEL	C	TCGA-KK-A59V-01A-11D-A29Q-08	270245	43714237	58817155	776	15293											
TP53BP1	7158	broad.mit.edu	37	chr15	43733757	43733757	+	Frame_Shift_Del	DEL	T	T	-																															cagcaacagcagtagatccaTtttttctttcaccagttgca																										TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr15:43733757delT	ENST00000263801.3	-	15	3302	c.3050delA	c.(3049-3051)aatfs	p.N1017fs	TP53BP1_ENST00000450115.2_Frame_Shift_Del_p.N1022fs|TP53BP1_ENST00000382039.3_Frame_Shift_Del_p.N1022fs|TP53BP1_ENST00000382044.4_Frame_Shift_Del_p.N1022fs	NM_005657.2	NP_005648.1	Q12888	TP53B_HUMAN	tumor protein p53 binding protein 1	1017					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|replication fork (GO:0005657)	damaged DNA binding (GO:0003684)|methylated histone binding (GO:0035064)|p53 binding (GO:0002039)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II transcription cofactor activity (GO:0001104)|telomeric DNA binding (GO:0042162)			breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3)	72		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;1.59e-06)		AGTAGATCCATTTTTTCTTTC	0.393								Other conserved DNA damage response genes																														ENST00000263801.3																			0				breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3)	72						c.(3049-3051)atfs	Other conserved DNA damage response genes	tumor protein p53 binding protein 1							126	125	125					15																	43733757		2201	4298	6499	SO:0001589	frameshift_variant	7158				double-strand break repair via homologous recombination|positive regulation of transcription from RNA polymerase II promoter	condensed chromosome kinetochore|cytoplasm|nucleoplasm	p53 binding|RNA polymerase II activating transcription factor binding|RNA polymerase II transcription cofactor activity	g.chr15:43733757delT	U09477	CCDS10096.1, CCDS45250.1, CCDS45251.1	15q15-q21	2007-08-02	2007-08-02		ENSG00000067369	ENSG00000067369			11999	protein-coding gene	gene with protein product		605230	"tumor protein p53-binding protein, 1"			8016121, 9748285	Standard	NM_005657		Approved	53BP1, p202	uc001zrr.4	Q12888	OTTHUMG00000059757	ENST00000263801.3:c.3050delA	15.37:g.43733757delT	ENSP00000263801:p.Asn1017fs					TP53BP1_ENST00000382039.3_Frame_Shift_Del_p.N1022fs|TP53BP1_ENST00000382044.4_Frame_Shift_Del_p.N1022fs|TP53BP1_ENST00000450115.2_Frame_Shift_Del_p.N1022fs	p.N1017fs	NM_005657.2	NP_005648.1	Q12888	TP53B_HUMAN		GBM - Glioblastoma multiforme(94;1.59e-06)	15	3302	-		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)	1017					F8VY86|Q2M1Z7|Q4LE46|Q5FWZ3|Q7Z3U4	Frame_Shift_Del	DEL	ENST00000263801.3	37	c.3050delA	CCDS10096.1																																																																																				0.393	TP53BP1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000132897.3			33	93						33	93	---	---	---	---	-	43733757	T	-	43733757	7	5	305	1	0	1	0	1	0	0	0	0	16380	1493	52	0	2924	0	TP53BP1	15	43733757	Frame_Shift_Del	DEL	T	TCGA-KK-A59V-01A-11D-A29Q-08	19520	43733757	58797635	777	15294											
SPG11	80208	broad.mit.edu	37	chr15	44858060	44858060	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tttcttgctcacctggtagaAccgaggtagggccagaatac	10	10	11	10	1	2	2	1	0	1	2	2	3	2	2	3	3	3	3	3	3	5	5			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr15:44858060A>G	ENST00000261866.7	-	38	7007	c.6991T>C	c.(6991-6993)Ttc>Ctc	p.F2331L	SPG11_ENST00000535302.2_Missense_Mutation_p.F2218L|SPG11_ENST00000427534.2_Intron	NM_025137.3	NP_079413.3	Q96JI7	SPTCS_HUMAN	spastic paraplegia 11 (autosomal recessive)	2331					cell death (GO:0008219)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	72		all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122)		all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214)		ACCTGGTAGAACCGAGGTAGG	0.517																																						ENST00000261866.7																			0				autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	72						c.(6991-6993)Ttc>Ctc		spastic paraplegia 11 (autosomal recessive)							62	44	50					15																	44858060		2198	4298	6496	SO:0001583	missense	80208				cell death	cytosol|integral to membrane|nucleus	protein binding	g.chr15:44858060A>G		CCDS10112.1, CCDS53939.1	15q13-q15	2007-11-13			ENSG00000104133	ENSG00000104133			11226	protein-coding gene	gene with protein product	"spatacsin"	610844	"KIAA1840"	KIAA1840		10408536, 17322883	Standard	NM_001160227		Approved	FLJ21439	uc001ztx.3	Q96JI7	OTTHUMG00000131199	ENST00000261866.7:c.6991T>C	15.37:g.44858060A>G	ENSP00000261866:p.Phe2331Leu					SPG11_ENST00000427534.2_Intron|SPG11_ENST00000535302.2_Missense_Mutation_p.F2218L	p.F2331L	NM_025137.3	NP_079413.3	Q96JI7	SPTCS_HUMAN		all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214)	38	7007	-		all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122)	2331					A8KAX9|B9EK60|F5H3N6|Q4VC11|Q58G86|Q69YG6|Q6NW01|Q8N270|Q8TBU9|Q9H734	Missense_Mutation	SNP	ENST00000261866.7	37	c.6991T>C	CCDS10112.1	.	.	.	.	.	.	.	.	.	.	A	25.7	4.667924	0.88348	.	.	ENSG00000104133	ENST00000261866;ENST00000535302	D;T	0.83992	-1.79;-1.37	5.78	5.78	0.91487	.	0.098086	0.64402	D	0.000001	D	0.90198	0.6936	M	0.73598	2.24	0.80722	D	1	D;D;D	0.76494	0.999;0.989;0.989	D;P;P	0.69142	0.962;0.798;0.798	D	0.91143	0.4947	10	0.72032	D	0.01	.	14.9759	0.71273	1.0:0.0:0.0:0.0	.	2218;2331;2331	F5H3N6;C4B7M4;Q96JI7	.;.;SPTCS_HUMAN	L	2331;2218	ENSP00000261866:F2331L;ENSP00000445278:F2218L	ENSP00000261866:F2331L	F	-	1	0	SPG11	42645352	1.000000	0.71417	1.000000	0.80357	0.630000	0.37929	8.780000	0.91799	2.333000	0.79357	0.482000	0.46254	TTC		0.517	SPG11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253927.1			6	27	0	0	0	1	0	6	27					G	44858060	A	G	44858060	3	3	305	1	0	0	0	0	1	0	0	0	15040	43	2	4	352	4	SPG11	15	44858060	Missense_Mutation	SNP	A	TCGA-KK-A59V-01A-11D-A29Q-08	1124303	44858060	57673332	778	15295											
DUOX1	53905	broad.mit.edu	37	chr15	45448007	45448007	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	attcattttgcaggcctcacGggggttgtgctgctcctgat	5	14	12	10	1	2	1	2	1	0	0	3	1	3	1	2	3	3	4	2	3	0	4	rs148179597		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr15:45448007G>A	ENST00000321429.4	+	29	3989	c.3582G>A	c.(3580-3582)acG>acA	p.T1194T	CTD-2651B20.1_ENST00000558039.1_lincRNA|DUOX1_ENST00000561166.1_Silent_p.T840T|DUOX1_ENST00000389037.3_Silent_p.T1194T	NM_017434.3	NP_059130.2	Q9NRD9	DUOX1_HUMAN	dual oxidase 1	1194	Ferric oxidoreductase.|Interaction with TXNDC11. {ECO:0000250}.				cuticle development (GO:0042335)|cytokine-mediated signaling pathway (GO:0019221)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide biosynthetic process (GO:0050665)|hydrogen peroxide catabolic process (GO:0042744)|oxidation-reduction process (GO:0055114)|response to cAMP (GO:0051591)|superoxide anion generation (GO:0042554)|thyroid hormone generation (GO:0006590)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|heme binding (GO:0020037)|NAD(P)H oxidase activity (GO:0016174)|NADP binding (GO:0050661)|peroxidase activity (GO:0004601)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|lung(16)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)	57		all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717)		CAGGCCTCACGGGGGTTGTGC	0.577																																						ENST00000321429.4																			0				breast(2)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|lung(16)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)	57						c.(3580-3582)acG>acA		dual oxidase 1		G	,	1,4395	2.1+/-5.4	0,1,2197	132	127	129		3582,3582	-5.9	0.9	15	dbSNP_134	129	0,8596		0,0,4298	no	coding-synonymous,coding-synonymous	DUOX1	NM_017434.3,NM_175940.1	,	0,1,6495	AA,AG,GG		0.0,0.0227,0.0077	,	1194/1552,1194/1552	45448007	1,12991	2198	4298	6496	SO:0001819	synonymous_variant	53905				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|superoxide anion generation	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|NADP binding|peroxidase activity	g.chr15:45448007G>A	AF213465	CCDS32221.1	15q21	2013-01-10				ENSG00000137857		"EF-hand domain containing"	3062	protein-coding gene	gene with protein product	"NADPH thyroid oxidase 1", "flavoprotein NADPH oxidase", "nicotinamide adenine dinucleotide phosphate oxidase"	606758				10806195	Standard	XM_005254463		Approved	NOXEF1, THOX1, LNOX1	uc001zut.1	Q9NRD9		ENST00000321429.4:c.3582G>A	15.37:g.45448007G>A						DUOX1_ENST00000389037.3_Silent_p.T1194T|DUOX1_ENST00000561166.1_Silent_p.T840T|CTD-2651B20.1_ENST00000558039.1_lincRNA	p.T1194T	NM_017434.3	NP_059130.2	Q9NRD9	DUOX1_HUMAN		all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717)	29	3989	+		all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)	1194			Ferric oxidoreductase.|Interaction with TXNDC11 (By similarity).		A6NH28|Q14C94|Q6ZMB3|Q6ZR09|Q9NZC1	Silent	SNP	ENST00000321429.4	37	c.3582G>A	CCDS32221.1																																																																																				0.577	DUOX1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416251.1	NM_017434		4	144	0	0	0	1	0	4	144					A	45448007	G	A	45448007	2	1	305	1	0	0	0	0	0	0	0	1	4800	1103	39	2		2	DUOX1	15	45448007	Silent	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	589947	45448007	57083385	779	15296											
FBN1	2200	broad.mit.edu	37	chr15	48733951	48733951	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tccactggaggacaaggaaaAcccttctggacacagacatt	14	7	9	11	0	1	1	0	0	1	1	2	5	2	5	2	4	1	0	2	4	3	2			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr15:48733951A>C	ENST00000316623.5	-	50	6585	c.6130T>G	c.(6130-6132)Ttt>Gtt	p.F2044V		NM_000138.4	NP_000129	P35555	FBN1_HUMAN	fibrillin 1	2044	EGF-like 35; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|kidney development (GO:0001822)|sequestering of BMP in extracellular matrix (GO:0035582)|sequestering of TGFbeta in extracellular matrix (GO:0035583)|skeletal system development (GO:0001501)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		GACAAGGAAAACCCTTCTGGA	0.438																																						ENST00000316623.5																			0				NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139						c.(6130-6132)Ttt>Gtt		fibrillin 1							160	157	158					15																	48733951		2198	4296	6494	SO:0001583	missense	2200				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding	g.chr15:48733951A>C	X63556	CCDS32232.1	15q21.1	2014-09-17	2006-04-25			ENSG00000166147			3603	protein-coding gene	gene with protein product	"Marfan syndrome"	134797	"fibrillin 1 (Marfan syndrome)"	FBN, MFS1, WMS		10036187, 12525539	Standard	NM_000138		Approved	MASS, OCTD, SGS	uc001zwx.2	P35555		ENST00000316623.5:c.6130T>G	15.37:g.48733951A>C	ENSP00000325527:p.Phe2044Val						p.F2044V	NM_000138.4	NP_000129.3	P35555	FBN1_HUMAN		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)	50	6585	-		all_lung(180;0.00279)	2044			EGF-like 35; calcium-binding.		B2RUU0|D2JYH6|Q15972|Q75N87	Missense_Mutation	SNP	ENST00000316623.5	37	c.6130T>G	CCDS32232.1	.	.	.	.	.	.	.	.	.	.	A	31	5.077571	0.94000	.	.	ENSG00000166147	ENST00000316623;ENST00000389087;ENST00000544030	D	0.93604	-3.25	5.94	5.94	0.96194	EGF-like region, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	D	0.000000	D	0.95124	0.8420	M	0.90145	3.09	0.80722	D	1	B	0.29481	0.245	B	0.35182	0.197	D	0.94373	0.7597	10	0.72032	D	0.01	.	16.0478	0.80731	1.0:0.0:0.0:0.0	.	2044	P35555	FBN1_HUMAN	V	2044;612;934	ENSP00000325527:F2044V	ENSP00000325527:F2044V	F	-	1	0	FBN1	46521243	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.105000	0.94246	2.264000	0.75181	0.528000	0.53228	TTT		0.438	FBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417355.1			10	174	0	0	0	1	0	10	174					C	48733951	A	C	48733951	3	2	305	1	0	0	0	0	1	0	0	0	5702	43	2	5	2553	5	FBN1	15	48733951	Missense_Mutation	SNP	A	TCGA-KK-A59V-01A-11D-A29Q-08	3285944	48733951	53797441	780	15297											
CEP152	22995	broad.mit.edu	37	chr15	49036443	49036443	+	Frame_Shift_Del	DEL	T	T	-																															agaattaaacttacatttaaTtttttttacagctttaatgt																										TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr15:49036443delT	ENST00000380950.2	-	24	4016	c.3829delA	c.(3829-3831)attfs	p.I1277fs	CEP152_ENST00000399334.3_Frame_Shift_Del_p.I1221fs|CEP152_ENST00000325747.5_Frame_Shift_Del_p.I1184fs	NM_001194998.1|NM_014985.3	NP_001181927.1|NP_055800.2	O94986	CE152_HUMAN	centrosomal protein 152kDa	1277					cell projection organization (GO:0030030)|centriole replication (GO:0007099)|centrosome duplication (GO:0051298)|de novo centriole assembly (GO:0098535)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytosol (GO:0005829)|deuterosome (GO:0098536)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)			breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(16)|lung(30)|ovary(1)|prostate(2)|skin(2)	63		all_lung(180;0.0428)		all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06)		TTACATTTAATTTTTTTTACA	0.393																																						ENST00000380950.2																			0				breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(16)|lung(30)|ovary(1)|prostate(2)|skin(2)	63						c.(3829-3831)ttfs		centrosomal protein 152kDa							42	40	40					15																	49036443		1796	4053	5849	SO:0001589	frameshift_variant	22995				centrosome duplication|G2/M transition of mitotic cell cycle	centrosome|cytosol	protein kinase binding	g.chr15:49036443delT	AB020719	CCDS42033.1, CCDS58361.1	15q21.1	2014-02-20							29298	protein-coding gene	gene with protein product	"asterless"	613529	"microcephaly, primary autosomal recessive 4"	MCPH4		14654843, 21131973	Standard	NM_014985		Approved	KIAA0912, SCKL5	uc001zwz.3	O94986		ENST00000380950.2:c.3829delA	15.37:g.49036443delT	ENSP00000370337:p.Ile1277fs					CEP152_ENST00000325747.5_Frame_Shift_Del_p.I1184fs|CEP152_ENST00000399334.3_Frame_Shift_Del_p.I1221fs	p.I1277fs	NM_001194998.1|NM_014985.3	NP_001181927.1|NP_055800.2	O94986	CE152_HUMAN		all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06)	24	4016	-		all_lung(180;0.0428)	1221					E7ER66|Q17RV1|Q6NTA0	Frame_Shift_Del	DEL	ENST00000380950.2	37	c.3829delA	CCDS58361.1																																																																																				0.393	CEP152-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417365.1	NM_014985		10	44						10	44	---	---	---	---	-	49036443	T	-	49036443	7	5	305	1	0	1	0	1	0	0	0	0	3248	1493	52	0	1319	0	CEP152	15	49036443	Frame_Shift_Del	DEL	T	TCGA-KK-A59V-01A-11D-A29Q-08	302492	49036443	53494949	781	15298											
MYO5A	4644	broad.mit.edu	37	chr15	52667640	52667640	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tggttgctgccttggttctgCgcagaaacttagcatagctg	7	13	12	9	1	1	1	0	0	1	1	1	1	1	1	1	2	6	6	1	2	3	5	rs561485938		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr15:52667640C>T	ENST00000399231.3	-	20	2681	c.2438G>A	c.(2437-2439)cGc>cAc	p.R813H	MYO5A_ENST00000358212.6_Missense_Mutation_p.R813H|MYO5A_ENST00000399233.2_Missense_Mutation_p.R813H|MYO5A_ENST00000553916.1_Missense_Mutation_p.R813H|MYO5A_ENST00000356338.6_Missense_Mutation_p.R813H	NM_000259.3	NP_000250	Q9Y4I1	MYO5A_HUMAN	myosin VA (heavy chain 12, myoxin)	813	IQ 2. {ECO:0000255|PROSITE- ProRule:PRU00116}.				actin filament-based movement (GO:0030048)|anagen (GO:0042640)|cellular protein metabolic process (GO:0044267)|cellular response to insulin stimulus (GO:0032869)|endoplasmic reticulum localization (GO:0051643)|exocytosis (GO:0006887)|insulin secretion (GO:0030073)|locomotion involved in locomotory behavior (GO:0031987)|long-chain fatty acid biosynthetic process (GO:0042759)|melanin biosynthetic process (GO:0042438)|melanocyte differentiation (GO:0030318)|melanosome transport (GO:0032402)|membrane organization (GO:0061024)|myelination (GO:0042552)|odontogenesis (GO:0042476)|post-Golgi vesicle-mediated transport (GO:0006892)|protein localization to plasma membrane (GO:0072659)|protein transport (GO:0015031)|regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031585)|secretory granule localization (GO:0032252)|synapse organization (GO:0050808)|synaptic transmission (GO:0007268)|transport (GO:0006810)|vesicle transport along actin filament (GO:0030050)|vesicle-mediated transport (GO:0016192)|visual perception (GO:0007601)	actomyosin (GO:0042641)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium tip (GO:0032433)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|insulin-responsive compartment (GO:0032593)|intermediate filament (GO:0005882)|melanosome (GO:0042470)|membrane (GO:0016020)|microtubule plus-end (GO:0035371)|myosin complex (GO:0016459)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|photoreceptor outer segment (GO:0001750)|ruffle (GO:0001726)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|microfilament motor activity (GO:0000146)|poly(A) RNA binding (GO:0044822)|Rab GTPase binding (GO:0017137)			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(12)|lung(19)|ovary(3)|skin(3)|stomach(1)	57				all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196)		CTTGGTTCTGCGCAGAAACTT	0.413													C|||	1	0.000199681	0	0	5008	,	,		16937	0		0	False		,,,				2504	0.001					ENST00000399231.3																			0				breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(12)|lung(19)|ovary(3)|skin(3)|stomach(1)	57						c.(2437-2439)cGc>cAc		myosin VA (heavy chain 12, myoxin)							85	80	81					15																	52667640		1914	4122	6036	SO:0001583	missense	4644				actin filament-based movement|transport	cytoplasm|growth cone|myosin complex|ruffle	actin binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr15:52667640C>T		CCDS42037.1, CCDS45262.1	15q21	2014-09-17	2006-09-29		ENSG00000197535	ENSG00000197535		"Myosins / Myosin superfamily : Class V"	7602	protein-coding gene	gene with protein product	"myosin, heavy polypeptide kinase", "myosin heavy chain 12", "myoxin", "myosin V"	160777	"myosin VA (heavy polypeptide 12, myoxin)"	MYH12		8188282, 8022818	Standard	NM_000259		Approved	MYO5, GS1, MYR12	uc002aby.2	Q9Y4I1	OTTHUMG00000137383	ENST00000399231.3:c.2438G>A	15.37:g.52667640C>T	ENSP00000382177:p.Arg813His					MYO5A_ENST00000356338.6_Missense_Mutation_p.R813H|MYO5A_ENST00000553916.1_Missense_Mutation_p.R813H|MYO5A_ENST00000358212.6_Missense_Mutation_p.R813H|MYO5A_ENST00000399233.2_Missense_Mutation_p.R813H	p.R813H	NM_000259.3	NP_000250.3	Q9Y4I1	MYO5A_HUMAN		all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196)	20	2681	-			813			IQ 2.		A8MZC5|O60653|Q07902|Q16249|Q9UE30|Q9UE31	Missense_Mutation	SNP	ENST00000399231.3	37	c.2438G>A	CCDS42037.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.407693	0.83340	.	.	ENSG00000197535	ENST00000399231;ENST00000399229;ENST00000399233;ENST00000356338;ENST00000358212;ENST00000546028;ENST00000553916	D;D;D;D;D	0.95853	-3.83;-3.83;-3.83;-3.83;-3.83	5.34	4.42	0.53409	.	0.000000	0.85682	D	0.000000	D	0.97420	0.9156	M	0.85197	2.74	0.58432	D	0.999999	D;D	0.76494	0.964;0.999	P;D	0.63113	0.815;0.911	D	0.97871	1.0286	10	0.87932	D	0	.	14.2355	0.65925	0.0:0.9276:0.0:0.0724	.	813;813	Q9Y4I1;Q9Y4I1-2	MYO5A_HUMAN;.	H	813;347;813;813;813;443;813	ENSP00000382177:R813H;ENSP00000382179:R813H;ENSP00000348693:R813H;ENSP00000350945:R813H;ENSP00000451109:R813H	ENSP00000348693:R813H	R	-	2	0	MYO5A	50454932	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.477000	0.60223	1.254000	0.44035	0.545000	0.68477	CGC		0.413	MYO5A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000268102.1	NM_000259		14	27	0	0	0	1	0	14	27					T	52667640	C	T	52667640	3	4	305	1	0	0	0	0	1	0	0	0	10078	768	27	1	3217	1	MYO5A	15	52667640	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	3631197	52667640	49863752	782	15299											
KIAA1370	56204	broad.mit.edu	37	chr15	52903829	52903829	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ataatgcatcttgcttaatcGcaggatcatttagatcaatt	13	15	6	7	1	3	1	2	0	1	1	4	2	3	2	0	1	2	3	0	1	4	6			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr15:52903829G>A	ENST00000261844.7	-	4	499	c.347C>T	c.(346-348)gCg>gTg	p.A116V	FAM214A_ENST00000546305.2_Missense_Mutation_p.A123V	NM_019600.2	NP_062546.2	Q32MH5	F214A_HUMAN	family with sequence similarity 214, member A	116																	TTGCTTAATCGCAGGATCATT	0.413																																						ENST00000261844.7																			0											c.(346-348)gCg>gTg		family with sequence similarity 214, member A							109	107	107					15																	52903829		1930	4138	6068	SO:0001583	missense	56204							g.chr15:52903829G>A	AB037791	CCDS45263.1, CCDS66773.1	15q21.2-q21.3	2011-12-01	2011-12-01	2011-12-01	ENSG00000047346	ENSG00000047346			25609	protein-coding gene	gene with protein product			"KIAA1370"	KIAA1370		10718198	Standard	XM_005254547		Approved	FLJ10980	uc002acg.4	Q32MH5		ENST00000261844.7:c.347C>T	15.37:g.52903829G>A	ENSP00000261844:p.Ala116Val					FAM214A_ENST00000546305.2_Missense_Mutation_p.A123V	p.A116V	NM_019600.2	NP_062546.2	Q32MH5	K1370_HUMAN			4	499	-			116					A8KA52|B4DEP5|B4DF40|F5H8G0|Q32MH6|Q4G0R7|Q5XJ16|Q6PDA3|Q9NV24|Q9P2H7	Missense_Mutation	SNP	ENST00000261844.7	37	c.347C>T	CCDS45263.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.282924	0.80692	.	.	ENSG00000047346	ENST00000261844;ENST00000399202;ENST00000534964;ENST00000546305	T;T	0.33438	1.41;1.41	6.16	5.25	0.73442	.	0.095093	0.64402	D	0.000001	T	0.39384	0.1076	N	0.16478	0.41	0.41971	D	0.990754	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.997	T	0.31971	-0.9924	10	0.34782	T	0.22	-6.2588	15.319	0.74105	0.0662:0.0:0.9338:0.0	.	123;116	F5H8G0;Q32MH5	.;K1370_HUMAN	V	116;116;115;123	ENSP00000261844:A116V;ENSP00000443598:A123V	ENSP00000261844:A116V	A	-	2	0	KIAA1370	50691121	1.000000	0.71417	0.986000	0.45419	0.996000	0.88848	5.107000	0.64603	1.626000	0.50381	0.650000	0.86243	GCG		0.413	FAM214A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419914.1	NM_019600		28	68	0	0	0	1	0	28	68					A	52903829	G	A	52903829	3	1	305	1	0	0	0	0	1	0	0	0	8226	1087	38	1	2923	1	KIAA1370	15	52903829	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	236189	52903829	49627563	783	15300											
RFX7	64864	broad.mit.edu	37	chr15	56388644	56388644	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gggtaagatctgagggtaacGgtgccgggcagaacgatccc	10	6	16	9	3	1	3	0	1	1	2	2	4	2	3	2	4	3	3	2	4	3	2			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr15:56388644G>A	ENST00000559447.2	-	9	1262	c.991C>T	c.(991-993)Cgt>Tgt	p.R331C	RFX7_ENST00000423270.1_Missense_Mutation_p.R428C|RFX7_ENST00000317318.6_Missense_Mutation_p.R428C|RFX7_ENST00000422057.1_Missense_Mutation_p.R331C			Q2KHR2	RFX7_HUMAN	regulatory factor X, 7	331					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	DNA binding (GO:0003677)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						TGAGGGTAACGGTGCCGGGCA	0.532																																						ENST00000423270.1																			0				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						c.(1282-1284)Cgt>Tgt		regulatory factor X, 7							136	137	136					15																	56388644		2050	4193	6243	SO:0001583	missense	64864				regulation of transcription, DNA-dependent	nucleus	DNA binding	g.chr15:56388644G>A			15q21.3	2008-08-04	2008-08-04	2008-08-04		ENSG00000181827			25777	protein-coding gene	gene with protein product		612660	"regulatory factor X domain containing 2"	RFXDC2			Standard	NM_022841		Approved	FLJ12994	uc010bfn.3	Q2KHR2		ENST00000559447.2:c.991C>T	15.37:g.56388644G>A	ENSP00000453281:p.Arg331Cys					RFX7_ENST00000422057.1_Missense_Mutation_p.R331C|RFX7_ENST00000559447.2_Missense_Mutation_p.R331C|RFX7_ENST00000317318.6_Missense_Mutation_p.R428C	p.R428C	NM_022841.5	NP_073752.5	Q2KHR2	RFX7_HUMAN			9	1281	-			331					Q6ZRR1|Q6ZTY6|Q8N3J0|Q9H7A9|Q9H956	Missense_Mutation	SNP	ENST00000559447.2	37	c.1282C>T		.	.	.	.	.	.	.	.	.	.	G	23.2	4.386922	0.82902	.	.	ENSG00000181827	ENST00000422057;ENST00000317318;ENST00000423270	T;T;T	0.66815	-0.21;-0.23;-0.21	5.43	5.43	0.79202	.	0.000000	0.64402	D	0.000001	T	0.73401	0.3582	N	0.24115	0.695	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.987	T	0.76921	-0.2780	10	0.87932	D	0	-10.8319	18.5965	0.91231	0.0:0.0:1.0:0.0	.	331;331	Q2KHR2;C9JU50	RFX7_HUMAN;.	C	331;428;428	ENSP00000387504:R331C;ENSP00000313299:R428C;ENSP00000397644:R428C	ENSP00000313299:R428C	R	-	1	0	RFX7	54175936	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.420000	0.97426	2.698000	0.92095	0.655000	0.94253	CGT		0.532	RFX7-001	KNOWN	non_canonical_U12|basic	protein_coding	protein_coding	OTTHUMT00000418841.3	NM_022841		10	31	0	0	0	1	0	10	31					A	56388644	G	A	56388644	3	1	305	1	0	0	0	0	1	0	0	0	13268	1116	39	2	3104	2	RFX7	15	56388644	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	3484815	56388644	46142748	784	15301											
ALDH1A2	8854	broad.mit.edu	37	chr15	58306166	58306166	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	accaagagagaaagccaggcGggctgcctgcactgctttgt	10	7	13	11	1	0	2	0	0	0	2	0	3	0	2	3	2	4	3	3	2	2	1			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr15:58306166G>A	ENST00000249750.4	-	3	1020	c.253C>T	c.(253-255)Cgc>Tgc	p.R85C	ALDH1A2_ENST00000559517.1_5'UTR|ALDH1A2_ENST00000347587.3_Missense_Mutation_p.R85C|ALDH1A2_ENST00000558231.1_Missense_Mutation_p.R56C|ALDH1A2_ENST00000537372.1_Missense_Mutation_p.R64C	NM_003888.3	NP_003879.2	O94788	AL1A2_HUMAN	aldehyde dehydrogenase 1 family, member A2	85					9-cis-retinoic acid biosynthetic process (GO:0042904)|anterior/posterior pattern specification (GO:0009952)|blood vessel development (GO:0001568)|cardiac muscle tissue development (GO:0048738)|cellular response to retinoic acid (GO:0071300)|determination of bilateral symmetry (GO:0009855)|embryonic camera-type eye development (GO:0031076)|embryonic digestive tract development (GO:0048566)|embryonic forelimb morphogenesis (GO:0035115)|face development (GO:0060324)|heart morphogenesis (GO:0003007)|hindbrain development (GO:0030902)|kidney development (GO:0001822)|liver development (GO:0001889)|lung development (GO:0030324)|midgut development (GO:0007494)|morphogenesis of embryonic epithelium (GO:0016331)|negative regulation of cell proliferation (GO:0008285)|neural crest cell development (GO:0014032)|neural tube development (GO:0021915)|neuron differentiation (GO:0030182)|pancreas development (GO:0031016)|pituitary gland development (GO:0021983)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|proximal/distal pattern formation (GO:0009954)|regulation of endothelial cell proliferation (GO:0001936)|response to cytokine (GO:0034097)|response to estradiol (GO:0032355)|response to vitamin A (GO:0033189)|retinal metabolic process (GO:0042574)|retinoic acid metabolic process (GO:0042573)|retinoic acid receptor signaling pathway (GO:0048384)|retinol metabolic process (GO:0042572)|ureter maturation (GO:0035799)|vitamin A metabolic process (GO:0006776)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|perinuclear region of cytoplasm (GO:0048471)	3-chloroallyl aldehyde dehydrogenase activity (GO:0004028)|retinal binding (GO:0016918)|retinal dehydrogenase activity (GO:0001758)	p.R85S(1)		NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(15)|prostate(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(80;0.152)|all cancers(107;0.18)	Tretinoin(DB00755)|Vitamin A(DB00162)	AAAGCCAGGCGGGCTGCCTGC	0.498																																						ENST00000249750.4																			1	Substitution - Missense(1)	p.R85S(1)	lung(1)	NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(15)|prostate(1)|upper_aerodigestive_tract(1)	31						c.(253-255)Cgc>Tgc		aldehyde dehydrogenase 1 family, member A2	NADH(DB00157)|Tretinoin(DB00755)|Vitamin A(DB00162)						192	211	204					15																	58306166		2192	4292	6484	SO:0001583	missense	8854				negative regulation of cell proliferation|neural tube development|response to cytokine stimulus	nucleus	3-chloroallyl aldehyde dehydrogenase activity|retinal binding|retinal dehydrogenase activity	g.chr15:58306166G>A	AB015228	CCDS10163.1, CCDS10164.1, CCDS45266.1, CCDS55968.1	15q21.2	2011-02-18			ENSG00000128918	ENSG00000128918		"Aldehyde dehydrogenases"	15472	protein-coding gene	gene with protein product	"retinaldehyde dehydrogenase 2"	603687				9819382	Standard	NM_003888		Approved	RALDH2	uc002aex.3	O94788	OTTHUMG00000132624	ENST00000249750.4:c.253C>T	15.37:g.58306166G>A	ENSP00000249750:p.Arg85Cys					ALDH1A2_ENST00000347587.3_Missense_Mutation_p.R85C|ALDH1A2_ENST00000559517.1_5'UTR|ALDH1A2_ENST00000558231.1_Missense_Mutation_p.R56C|ALDH1A2_ENST00000537372.1_Missense_Mutation_p.R64C	p.R85C	NM_003888.3	NP_003879.2	O94788	AL1A2_HUMAN		GBM - Glioblastoma multiforme(80;0.152)|all cancers(107;0.18)	3	1020	-			85					B3KY52|B4DZR2|F5H2Y9|H0YM00|Q2PJS6|Q8NHQ4|Q9UBR8|Q9UFY0	Missense_Mutation	SNP	ENST00000249750.4	37	c.253C>T	CCDS10163.1	.	.	.	.	.	.	.	.	.	.	G	15.41	2.824484	0.50739	.	.	ENSG00000128918	ENST00000249750;ENST00000543386;ENST00000347587;ENST00000537372	T;T;T	0.78126	-1.15;2.15;-1.15	4.69	3.77	0.43336	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, N-terminal (1);Aldehyde/histidinol dehydrogenase (1);	0.000000	0.85682	D	0.000000	D	0.90875	0.7133	H	0.96547	3.84	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.81914	0.973;0.954;0.99;0.995	D	0.92736	0.6204	10	0.87932	D	0	.	12.2655	0.54676	0.0:0.0:0.6916:0.3084	.	56;64;85;85	B4DH89;F5H2Y9;O94788-2;O94788	.;.;.;AL1A2_HUMAN	C	85;56;85;64	ENSP00000249750:R85C;ENSP00000309623:R85C;ENSP00000438296:R64C	ENSP00000249750:R85C	R	-	1	0	ALDH1A2	56093458	1.000000	0.71417	1.000000	0.80357	0.093000	0.18481	7.298000	0.78815	1.180000	0.42898	-0.169000	0.13324	CGC		0.498	ALDH1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255869.1			86	227	0	0	0	1	0	86	227					A	58306166	G	A	58306166	3	1	305	1	0	0	0	0	1	0	0	0	491	1116	39	2	1347	2	ALDH1A2	15	58306166	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	1917522	58306166	44225226	785	15302											
C2CD4A	145741	broad.mit.edu	37	chr15	62360188	62360188	+	Frame_Shift_Del	DEL	C	C	-																															cgctcctgctcgggggcccgCccgcgccccggccccgggcc																										TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr15:62360188delC	ENST00000355522.5	+	2	517	c.376delC	c.(376-378)cccfs	p.P126fs		NM_207322.2	NP_997205.2	Q8NCU7	C2C4A_HUMAN	C2 calcium-dependent domain containing 4A	126						nucleus (GO:0005634)											cgggggcccgcccgcgccccg	0.811																																						ENST00000355522.5																			0											c.(376-378)ccfs		C2 calcium-dependent domain containing 4A							1	1	1					15																	62360188		648	1620	2268	SO:0001589	frameshift_variant	145741					nucleus		g.chr15:62360188delC	AF504646	CCDS32258.1	15q22.2	2009-09-28	2009-09-28	2009-09-28		ENSG00000198535			33627	protein-coding gene	gene with protein product	"nuclear localized factor 1"	610343	"family with sequence similarity 148, member A"	FAM148A			Standard	NM_207322		Approved	NLF1	uc002ahf.4	Q8NCU7		ENST00000355522.5:c.376delC	15.37:g.62360188delC	ENSP00000347712:p.Pro126fs						p.P126fs	NM_207322.2	NP_997205.2	Q8NCU7	C2C4A_HUMAN			2	517	+			126						Frame_Shift_Del	DEL	ENST00000355522.5	37	c.376delC	CCDS32258.1																																																																																				0.811	C2CD4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416008.2	NM_207322		2	4						2	4	---	---	---	---	-	62360188	C	-	62360188	7	5	305	1	0	1	0	1	0	0	0	0	2155	739	26	0	378	0	C2CD4A	15	62360188	Frame_Shift_Del	DEL	C	TCGA-KK-A59V-01A-11D-A29Q-08	4054022	62360188	40171204	786	15303											
TLN2	83660	broad.mit.edu	37	chr15	62985084	62985084	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	actattcagtacaaaccaccGagggagagcagatatcccag	15	6	9	11	1	1	2	1	0	0	2	2	4	2	2	3	1	3	2	3	1	4	4			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr15:62985084G>A	ENST00000561311.1	+	12	1389	c.1159G>A	c.(1159-1161)Gag>Aag	p.E387K	RP11-625H11.2_ENST00000559589.1_RNA|TLN2_ENST00000306829.6_Missense_Mutation_p.E387K			Q9Y4G6	TLN2_HUMAN	talin 2	387	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.|Interaction with PIP5K1C. {ECO:0000250}.				cell adhesion (GO:0007155)|cell-cell junction assembly (GO:0007043)|cytoskeletal anchoring at plasma membrane (GO:0007016)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|synapse (GO:0045202)	actin binding (GO:0003779)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)	p.E387K(1)		NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						ACAAACCACCGAGGGAGAGCA	0.388																																						ENST00000561311.1																			1	Substitution - Missense(1)	p.E387K(1)	large_intestine(1)	NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						c.(1159-1161)Gag>Aag		talin 2							143	128	133					15																	62985084		2203	4300	6503	SO:0001583	missense	83660				cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane	actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse	actin binding|insulin receptor binding|structural constituent of cytoskeleton	g.chr15:62985084G>A	AB002318	CCDS32261.1	15q15-q21	2008-07-03			ENSG00000171914	ENSG00000171914			15447	protein-coding gene	gene with protein product		607349				9205841, 11527381	Standard	NM_015059		Approved	KIAA0320, ILWEQ	uc002alb.4	Q9Y4G6	OTTHUMG00000133679	ENST00000561311.1:c.1159G>A	15.37:g.62985084G>A	ENSP00000453508:p.Glu387Lys					TLN2_ENST00000306829.6_Missense_Mutation_p.E387K	p.E387K			Q9Y4G6	TLN2_HUMAN			12	1389	+			387			FERM.|Interaction with PIP5K1C (By similarity).		A6NLB8	Missense_Mutation	SNP	ENST00000561311.1	37	c.1159G>A	CCDS32261.1	.	.	.	.	.	.	.	.	.	.	G	35	5.461517	0.96240	.	.	ENSG00000171914	ENST00000306829	T	0.73681	-0.77	5.51	5.51	0.81932	FERM domain (1);Pleckstrin homology-type (1);Insulin receptor substrate-1, PTB (1);	0.000000	0.85682	D	0.000000	D	0.82300	0.5007	M	0.83312	2.635	0.80722	D	1	D	0.57257	0.979	P	0.48368	0.575	D	0.85547	0.1219	10	0.87932	D	0	-32.3759	19.7828	0.96424	0.0:0.0:1.0:0.0	.	387	Q9Y4G6	TLN2_HUMAN	K	387	ENSP00000303476:E387K	ENSP00000303476:E387K	E	+	1	0	TLN2	60772376	1.000000	0.71417	0.990000	0.47175	0.916000	0.54674	9.715000	0.98748	2.747000	0.94245	0.650000	0.86243	GAG		0.388	TLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257878.2			23	59	0	0	0	1	0	23	59					A	62985084	G	A	62985084	3	1	305	1	0	0	0	0	1	0	0	0	15945	1059	37	2	1197	2	TLN2	15	62985084	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	624896	62985084	39546308	787	15304											
CSNK1G1	53944	broad.mit.edu	37	chr15	64506280	64506280	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agttctctggcttgacatctCggtaaatgaggttctttgag	8	15	11	7	1	3	3	0	3	3	0	5	3	3	3	0	3	0	4	0	3	2	5			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr15:64506280C>T	ENST00000303052.7	-	6	911	c.488G>A	c.(487-489)cGa>cAa	p.R163Q	CSNK1G1_ENST00000303032.6_Missense_Mutation_p.R163Q|CTD-2116N17.1_ENST00000606793.1_Missense_Mutation_p.R145Q|CSNK1G1_ENST00000607537.1_Missense_Mutation_p.R163Q	NM_022048.3	NP_071331.2	Q9HCP0	KC1G1_HUMAN	casein kinase 1, gamma 1	163	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|urinary_tract(1)	13						CTTGACATCTCGGTAAATGAG	0.383																																						ENST00000303052.7																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|urinary_tract(1)	13						c.(487-489)cGa>cAa		casein kinase 1, gamma 1							217	199	205					15																	64506280		2203	4300	6503	SO:0001583	missense	53944				Wnt receptor signaling pathway	cytoplasm	ATP binding|protein serine/threonine kinase activity	g.chr15:64506280C>T	AB042562	CCDS10192.2	15q22.1-q22.31	2013-01-17			ENSG00000169118	ENSG00000169118			2454	protein-coding gene	gene with protein product		606274				11124537	Standard	NM_022048		Approved	CK1gamma1	uc002anf.3	Q9HCP0	OTTHUMG00000133019	ENST00000303052.7:c.488G>A	15.37:g.64506280C>T	ENSP00000305777:p.Arg163Gln					CSNK1G1_ENST00000607537.1_Missense_Mutation_p.R163Q|CSNK1G1_ENST00000303032.6_Missense_Mutation_p.R163Q|CTD-2116N17.1_ENST00000606793.1_Missense_Mutation_p.R145Q	p.R163Q	NM_022048.3	NP_071331.2	Q9HCP0	KC1G1_HUMAN			6	911	-			163			Protein kinase.		Q5JPH1|Q96AE9|Q9HCP1	Missense_Mutation	SNP	ENST00000303052.7	37	c.488G>A	CCDS10192.2	.	.	.	.	.	.	.	.	.	.	C	36	5.855997	0.97030	.	.	ENSG00000169118	ENST00000303052;ENST00000447727;ENST00000303032	T;T	0.74632	-0.86;-0.86	5.77	5.77	0.91146	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.91593	0.7344	H	0.96633	3.855	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.988;0.996;0.998;0.998	D	0.93514	0.6855	10	0.87932	D	0	.	19.9508	0.97198	0.0:1.0:0.0:0.0	.	21;163;163;163	Q9H5M4;Q9HCP0-2;Q8IXA3;Q9HCP0	.;.;.;KC1G1_HUMAN	Q	163;119;163	ENSP00000305777:R163Q;ENSP00000307753:R163Q	ENSP00000307753:R163Q	R	-	2	0	CSNK1G1	62293333	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.776000	0.85560	2.890000	0.99128	0.585000	0.79938	CGA		0.383	CSNK1G1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256605.1	NM_022048		44	102	0	0	0	1	0	44	102					T	64506280	C	T	64506280	3	4	305	1	0	0	0	0	1	0	0	0	3954	884	31	2	808	2	CSNK1G1	15	64506280	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	1521196	64506280	38025112	788	15305											
ZNF609	23060	broad.mit.edu	37	chr15	64966285	64966285	+	Frame_Shift_Del	DEL	G	G	-																															agccaatagcaaaggccgtcGgggcagccagaattcttcag																										TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr15:64966285delG	ENST00000326648.3	+	4	1360	c.1232delG	c.(1231-1233)cggfs	p.R411fs	ZNF609_ENST00000559364.1_3'UTR|RNU6-549P_ENST00000384433.1_RNA	NM_015042.1	NP_055857.1	O15014	ZN609_HUMAN	zinc finger protein 609	411						nucleus (GO:0005634)	metal ion binding (GO:0046872)			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						AAAGGCCGTCGGGGCAGCCAG	0.547																																						ENST00000326648.3																			0				breast(3)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						c.(1231-1233)cgfs		zinc finger protein 609							88	87	87					15																	64966285		2203	4299	6502	SO:0001589	frameshift_variant	23060					nucleus	zinc ion binding	g.chr15:64966285delG	BC014251	CCDS32270.1	15q22.1	2008-05-02				ENSG00000180357		"Zinc fingers, C2H2-type"	29003	protein-coding gene	gene with protein product						9205841	Standard	NM_015042		Approved	KIAA0295	uc002ann.3	O15014		ENST00000326648.3:c.1232delG	15.37:g.64966285delG	ENSP00000316527:p.Arg411fs					ZNF609_ENST00000559364.1_3'UTR	p.R411fs	NM_015042.1	NP_055857.1	O15014	ZN609_HUMAN			4	1360	+			411					Q0D2I2	Frame_Shift_Del	DEL	ENST00000326648.3	37	c.1232delG	CCDS32270.1																																																																																				0.547	ZNF609-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418130.1	XM_042833		35	149						35	149	---	---	---	---	-	64966285	G	-	64966285	7	5	305	1	0	1	0	1	0	0	0	0	18032	1116	39	0	1246	0	ZNF609	15	64966285	Frame_Shift_Del	DEL	G	TCGA-KK-A59V-01A-11D-A29Q-08	460005	64966285	37565107	789	15306											
GLCE	26035	broad.mit.edu	37	chr15	69561011	69561011	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gctggccaattatggtgaccCgtaagttaggggaagggttc	9	10	15	7	1	0	1	0	1	0	0	1	2	0	2	2	5	0	4	2	5	5	4			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr15:69561011C>T	ENST00000261858.2	+	5	1510	c.1282C>T	c.(1282-1284)Cgt>Tgt	p.R428C	GLCE_ENST00000559420.2_Missense_Mutation_p.R364C	NM_015554.1	NP_056369.1	O94923	GLCE_HUMAN	glucuronic acid epimerase	428					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparin biosynthetic process (GO:0030210)|small molecule metabolic process (GO:0044281)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	heparosan-N-sulfate-glucuronate 5-epimerase activity (GO:0047464)|racemase and epimerase activity, acting on carbohydrates and derivatives (GO:0016857)|UDP-glucuronate 5'-epimerase activity (GO:0050379)			NS(1)|breast(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	18						TATGGTGACCCGTAAGTTAGG	0.488																																						ENST00000261858.2																			0				NS(1)|breast(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	18						c.(1282-1284)Cgt>Tgt		glucuronic acid epimerase							76	69	71					15																	69561011		2200	4298	6498	SO:0001583	missense	26035				heparan sulfate proteoglycan biosynthetic process|heparin biosynthetic process	Golgi membrane|integral to membrane	UDP-glucuronate 5'-epimerase activity	g.chr15:69561011C>T	AB020643	CCDS32277.1	15q23	2007-01-30	2007-01-30			ENSG00000138604	5.1.3.12		17855	protein-coding gene	gene with protein product	"heparan sulfate epimerase"	612134	"D-glucuronyl C5-epimerase", "UDP-glucuronic acid epimerase"			15853773	Standard	NM_015554		Approved	KIAA0836, HSEPI	uc002ary.1	O94923		ENST00000261858.2:c.1282C>T	15.37:g.69561011C>T	ENSP00000261858:p.Arg428Cys					GLCE_ENST00000559420.2_Missense_Mutation_p.R364C	p.R428C	NM_015554.1	NP_056369.1	O94923	GLCE_HUMAN			5	1510	+			428					Q6GUQ2	Missense_Mutation	SNP	ENST00000261858.2	37	c.1282C>T	CCDS32277.1	.	.	.	.	.	.	.	.	.	.	C	17.36	3.369718	0.61624	.	.	ENSG00000138604	ENST00000261858	T	0.47869	0.83	5.27	5.27	0.74061	.	0.000000	0.85682	D	0.000000	T	0.70133	0.3189	M	0.83012	2.62	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.74774	-0.3551	10	0.87932	D	0	-13.2633	13.3538	0.60617	0.1584:0.8416:0.0:0.0	.	428	O94923	GLCE_HUMAN	C	428	ENSP00000261858:R428C	ENSP00000261858:R428C	R	+	1	0	GLCE	67348065	1.000000	0.71417	0.997000	0.53966	0.806000	0.45545	4.876000	0.63079	2.470000	0.83445	0.557000	0.71058	CGT		0.488	GLCE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_015554		6	81	0	0	0	1	0	6	81					T	69561011	C	T	69561011	3	4	305	1	0	0	0	0	1	0	0	0	6432	652	23	2	1292	2	GLCE	15	69561011	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	4594726	69561011	32970381	790	15307											
MYO9A	4649	broad.mit.edu	37	chr15	72197283	72197283	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttaccttttcagcattagagCgaatgcattttacaaaatat	14	15	5	7	1	1	1	1	0	0	1	1	2	1	1	1	0	5	2	1	0	7	7			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr15:72197283C>T	ENST00000356056.5	-	20	3222	c.2750G>A	c.(2749-2751)cGc>cAc	p.R917H	MYO9A_ENST00000564571.1_Missense_Mutation_p.R917H|MYO9A_ENST00000444904.1_Missense_Mutation_p.R898H|MYO9A_ENST00000563542.1_5'UTR|MYO9A_ENST00000424560.1_Missense_Mutation_p.R917H|MYO9A_ENST00000566885.1_Missense_Mutation_p.R537H	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN	myosin IXA	917	Actin-binding. {ECO:0000250}.|Myosin motor.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|visual perception (GO:0007601)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|unconventional myosin complex (GO:0016461)	ATP binding (GO:0005524)|GTPase activator activity (GO:0005096)|metal ion binding (GO:0046872)|motor activity (GO:0003774)			NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						AGCATTAGAGCGAATGCATTT	0.348																																						ENST00000356056.5																			0				NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						c.(2749-2751)cGc>cAc		myosin IXA							139	130	133					15																	72197283		2198	4297	6495	SO:0001583	missense	4649				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception	cytosol|integral to membrane|unconventional myosin complex	actin binding|ATP binding|GTPase activator activity|metal ion binding|motor activity	g.chr15:72197283C>T	AF117888	CCDS10239.1	15q22-q23	2011-09-27			ENSG00000066933	ENSG00000066933		"Myosins / Myosin superfamily : Class IX"	7608	protein-coding gene	gene with protein product		604875				10409426	Standard	NM_006901		Approved	FLJ11061, FLJ13244, MGC71859	uc002atl.5	B2RTY4	OTTHUMG00000133440	ENST00000356056.5:c.2750G>A	15.37:g.72197283C>T	ENSP00000348349:p.Arg917His					MYO9A_ENST00000564571.1_Missense_Mutation_p.R917H|MYO9A_ENST00000444904.1_Missense_Mutation_p.R898H|MYO9A_ENST00000566885.1_Missense_Mutation_p.R537H|MYO9A_ENST00000563542.1_5'UTR|MYO9A_ENST00000424560.1_Missense_Mutation_p.R917H	p.R917H	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN			20	3222	-			917			Actin-binding (By similarity).|Myosin head-like 2.		B0I1T5|C9IYB3|C9JA86|Q14787|Q3YLD7|Q3YLD8|Q6P986|Q9H8T5|Q9NTG2|Q9NUY2|Q9UEP3|Q9UNJ2	Missense_Mutation	SNP	ENST00000356056.5	37	c.2750G>A	CCDS10239.1	.	.	.	.	.	.	.	.	.	.	C	31	5.061886	0.93846	.	.	ENSG00000066933	ENST00000356056;ENST00000424560;ENST00000444904;ENST00000261864	D;D;D	0.88046	-2.33;-2.33;-2.33	5.07	5.07	0.68467	Myosin head, motor domain (2);	.	.	.	.	D	0.94029	0.8087	M	0.83483	2.645	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	D	0.94606	0.7800	9	0.87932	D	0	.	18.6536	0.91440	0.0:1.0:0.0:0.0	.	898;898;917	B2RTY4-2;B7WP69;B2RTY4	.;.;MYO9A_HUMAN	H	917;917;898;898	ENSP00000348349:R917H;ENSP00000399162:R917H;ENSP00000398250:R898H	ENSP00000261864:R898H	R	-	2	0	MYO9A	69984337	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	7.205000	0.77881	2.646000	0.89796	0.655000	0.94253	CGC		0.348	MYO9A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257308.1	NM_006901		12	36	0	0	0	1	0	12	36					T	72197283	C	T	72197283	3	4	305	1	0	0	0	0	1	0	0	0	10084	768	27	1	4988	1	MYO9A	15	72197283	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	2636272	72197283	30334109	791	15308											
PML	5371	broad.mit.edu	37	chr15	74327550	74327550	+	Intron	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gaccgccgagccacagtcctCgccagcccactcctcgccag	7	4	9	21	4	0	0	0	0	0	0	4	2	2	0	8	0	2	0	8	0	0	0	rs372539605		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr15:74327550C>T	ENST00000268058.3	+	7	1806				PML_ENST00000563500.1_3'UTR|PML_ENST00000395135.3_Intron|PML_ENST00000435786.2_3'UTR|PML_ENST00000569477.1_Silent_p.L596L|PML_ENST00000354026.6_Missense_Mutation_p.S535L|PML_ENST00000564428.1_Intron|PML_ENST00000359928.4_Intron|PML_ENST00000569965.1_Intron|PML_ENST00000395132.2_Intron|PML_ENST00000268059.6_Missense_Mutation_p.S583L|PML_ENST00000565898.1_Intron|PML_ENST00000436891.3_3'UTR	NM_033238.2	NP_150241.2	P29590	PML_HUMAN	promyelocytic leukemia						activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|branching involved in mammary gland duct morphogenesis (GO:0060444)|cell cycle arrest (GO:0007050)|cell fate commitment (GO:0045165)|cellular response to interleukin-4 (GO:0071353)|cellular senescence (GO:0090398)|circadian regulation of gene expression (GO:0032922)|common-partner SMAD protein phosphorylation (GO:0007182)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|entrainment of circadian clock by photoperiod (GO:0043153)|extrinsic apoptotic signaling pathway (GO:0097191)|innate immune response (GO:0045087)|interferon-gamma-mediated signaling pathway (GO:0060333)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|maintenance of protein location in nucleus (GO:0051457)|myeloid cell differentiation (GO:0030099)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000059)|negative regulation of telomerase activity (GO:0051974)|negative regulation of telomere maintenance via telomerase (GO:0032211)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of translation in response to oxidative stress (GO:0032938)|negative regulation of viral release from host cell (GO:1902187)|PML body organization (GO:0030578)|positive regulation of apoptotic process involved in mammary gland involution (GO:0060058)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of histone deacetylation (GO:0031065)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein complex assembly (GO:0006461)|protein stabilization (GO:0050821)|protein targeting (GO:0006605)|regulation of calcium ion transport into cytosol (GO:0010522)|regulation of circadian rhythm (GO:0042752)|regulation of double-strand break repair (GO:2000779)|regulation of MHC class I biosynthetic process (GO:0045343)|regulation of protein phosphorylation (GO:0001932)|regulation of transcription, DNA-templated (GO:0006355)|response to cytokine (GO:0034097)|response to gamma radiation (GO:0010332)|response to hypoxia (GO:0001666)|response to UV (GO:0009411)|retinoic acid receptor signaling pathway (GO:0048384)|SMAD protein import into nucleus (GO:0007184)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|extrinsic component of endoplasmic reticulum membrane (GO:0042406)|nuclear matrix (GO:0016363)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	cobalt ion binding (GO:0050897)|DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|SUMO binding (GO:0032183)|transcription coactivator activity (GO:0003713)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	31						CCACAGTCCTCGCCAGCCCAC	0.642			T	"RARA, PAX5"	"APL, ALL"																																	ENST00000268059.6				Dom	yes		15	15q22	5371	T	promyelocytic leukemia			L	"RARA, PAX5"		"APL, ALL"		0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	31						c.(1747-1749)tCg>tTg		promyelocytic leukemia		C	,,LEU/SER,,,,,,LEU/SER	1,4395	2.1+/-5.4	0,1,2197	97	113	108		,,1748,,,,,,1604	-1.6	0	15		108	0,8594		0,0,4297	no	intron,intron,missense,utr-3,utr-3,intron,intron,intron,missense	PML	NM_002675.3,NM_033238.2,NM_033239.2,NM_033240.2,NM_033244.3,NM_033246.2,NM_033247.2,NM_033249.2,NM_033250.2	,,145,,,,,,145	0,1,6494	TT,TC,CC		0.0,0.0227,0.0077	,,,,,,,,	,,583/830,,,,,,535/782	74327550	1,12989	2198	4297	6495	SO:0001627	intron_variant	5371				cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction resulting in induction of apoptosis|endoplasmic reticulum calcium ion homeostasis|induction of apoptosis|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|maintenance of protein location in nucleus|negative regulation of angiogenesis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of mitotic cell cycle|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|negative regulation of telomerase activity|negative regulation of telomere maintenance via telomerase|negative regulation of transcription, DNA-dependent|negative regulation of translation in response to oxidative stress|PML body organization|positive regulation of defense response to virus by host|positive regulation of histone deacetylation|protein complex assembly|protein stabilization|protein targeting|regulation of calcium ion transport into cytosol|regulation of protein phosphorylation|response to hypoxia|response to virus|transcription, DNA-dependent	cytoplasm|cytosol|early endosome membrane|extrinsic to endoplasmic reticulum membrane|insoluble fraction|nuclear matrix|nuclear membrane|nucleolus|nucleus|PML body	cobalt ion binding|DNA binding|protein binding|protein heterodimerization activity|protein homodimerization activity|SUMO binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding	g.chr15:74327550C>T	AB208950	CCDS10255.1, CCDS10256.1, CCDS10257.1, CCDS10258.1, CCDS45297.1, CCDS45298.1, CCDS45299.1, CCDS45300.1, CCDS58386.1	15q24.1	2011-04-21			ENSG00000140464	ENSG00000140464		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	9113	protein-coding gene	gene with protein product		102578					Standard	NM_033244		Approved	MYL, TRIM19, RNF71	uc002awv.3	P29590	OTTHUMG00000137607	ENST00000268058.3:c.1710+679C>T	15.37:g.74327550C>T						PML_ENST00000354026.6_Missense_Mutation_p.S535L|PML_ENST00000395132.2_Intron|PML_ENST00000564428.1_Intron|PML_ENST00000359928.4_Intron|PML_ENST00000436891.3_3'UTR|PML_ENST00000435786.2_3'UTR|PML_ENST00000395135.3_Intron|PML_ENST00000268058.3_Intron|PML_ENST00000563500.1_3'UTR|PML_ENST00000569477.1_Silent_p.L596L|PML_ENST00000569965.1_Intron|PML_ENST00000565898.1_Intron	p.S583L	NM_033239.2|NM_033244.3	NP_150242.1|NP_150247.2	P29590	PML_HUMAN			8	1844	+			583					E9PBR7|P29591|P29592|P29593|Q00755|Q15959|Q59FP9|Q8WUA0|Q96S41|Q9BPW2|Q9BWP7|Q9BZX6|Q9BZX7|Q9BZX8|Q9BZX9|Q9BZY0|Q9BZY2|Q9BZY3	Missense_Mutation	SNP	ENST00000268058.3	37	c.1748C>T	CCDS10255.1	.	.	.	.	.	.	.	.	.	.	C	14.80	2.643160	0.47153	2.27E-4	0.0	ENSG00000140464	ENST00000268059;ENST00000354026	.	.	.	2.77	-1.57	0.08506	.	.	.	.	.	T	0.14527	0.0351	N	0.08118	0	0.09310	N	1	B;B	0.21309	0.054;0.054	B;B	0.14578	0.011;0.011	T	0.21415	-1.0246	8	0.87932	D	0	.	0.3797	0.00393	0.1959:0.3195:0.2103:0.2744	.	535;583	P29590-13;P29590-8	.;.	L	583;535	.	ENSP00000268059:S583L	S	+	2	0	PML	72114603	0.000000	0.05858	0.001000	0.08648	0.029000	0.11900	-0.218000	0.09240	-0.366000	0.08064	-0.391000	0.06502	TCG		0.642	PML-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269021.3	NM_002675		83	213	0	0	0	1	0	83	213					T	74327550	C	T	74327550	1	4	305	0	1	0	0	0	0	0	0	0	12135	893	31	2		2	PML	15	74327550	Intron	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	2130267	74327550	28203842	792	15309											
PML	5371	broad.mit.edu	37	chr15	74335504	74335504	+	Intron	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggttctcctggggctaccccCacccctttctaatttagtct	5	14	7	15	0	3	0	0	0	3	0	4	0	3	0	5	3	1	2	5	3	3	6	rs540260798		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr15:74335504C>T	ENST00000268058.3	+	8	1957				PML_ENST00000395135.3_Missense_Mutation_p.H629Y|PML_ENST00000564428.1_Missense_Mutation_p.H581Y|PML_ENST00000359928.4_3'UTR|PML_ENST00000569965.1_3'UTR|PML_ENST00000565898.1_Intron	NM_033238.2	NP_150241.2	P29590	PML_HUMAN	promyelocytic leukemia						activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|branching involved in mammary gland duct morphogenesis (GO:0060444)|cell cycle arrest (GO:0007050)|cell fate commitment (GO:0045165)|cellular response to interleukin-4 (GO:0071353)|cellular senescence (GO:0090398)|circadian regulation of gene expression (GO:0032922)|common-partner SMAD protein phosphorylation (GO:0007182)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|entrainment of circadian clock by photoperiod (GO:0043153)|extrinsic apoptotic signaling pathway (GO:0097191)|innate immune response (GO:0045087)|interferon-gamma-mediated signaling pathway (GO:0060333)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|maintenance of protein location in nucleus (GO:0051457)|myeloid cell differentiation (GO:0030099)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000059)|negative regulation of telomerase activity (GO:0051974)|negative regulation of telomere maintenance via telomerase (GO:0032211)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of translation in response to oxidative stress (GO:0032938)|negative regulation of viral release from host cell (GO:1902187)|PML body organization (GO:0030578)|positive regulation of apoptotic process involved in mammary gland involution (GO:0060058)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of histone deacetylation (GO:0031065)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein complex assembly (GO:0006461)|protein stabilization (GO:0050821)|protein targeting (GO:0006605)|regulation of calcium ion transport into cytosol (GO:0010522)|regulation of circadian rhythm (GO:0042752)|regulation of double-strand break repair (GO:2000779)|regulation of MHC class I biosynthetic process (GO:0045343)|regulation of protein phosphorylation (GO:0001932)|regulation of transcription, DNA-templated (GO:0006355)|response to cytokine (GO:0034097)|response to gamma radiation (GO:0010332)|response to hypoxia (GO:0001666)|response to UV (GO:0009411)|retinoic acid receptor signaling pathway (GO:0048384)|SMAD protein import into nucleus (GO:0007184)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|extrinsic component of endoplasmic reticulum membrane (GO:0042406)|nuclear matrix (GO:0016363)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	cobalt ion binding (GO:0050897)|DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|SUMO binding (GO:0032183)|transcription coactivator activity (GO:0003713)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	31						GGGCTACCCCCACCCCTTTCT	0.537			T	"RARA, PAX5"	"APL, ALL"								C|||	1	0.000199681	0	0	5008	,	,		19025	0.001		0	False		,,,				2504	0					ENST00000395135.3				Dom	yes		15	15q22	5371	T	promyelocytic leukemia			L	"RARA, PAX5"		"APL, ALL"		0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	31						c.(1885-1887)Cac>Tac		promyelocytic leukemia							64	64	64					15																	74335504		2198	4297	6495	SO:0001627	intron_variant	5371				cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction resulting in induction of apoptosis|endoplasmic reticulum calcium ion homeostasis|induction of apoptosis|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|maintenance of protein location in nucleus|negative regulation of angiogenesis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of mitotic cell cycle|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|negative regulation of telomerase activity|negative regulation of telomere maintenance via telomerase|negative regulation of transcription, DNA-dependent|negative regulation of translation in response to oxidative stress|PML body organization|positive regulation of defense response to virus by host|positive regulation of histone deacetylation|protein complex assembly|protein stabilization|protein targeting|regulation of calcium ion transport into cytosol|regulation of protein phosphorylation|response to hypoxia|response to virus|transcription, DNA-dependent	cytoplasm|cytosol|early endosome membrane|extrinsic to endoplasmic reticulum membrane|insoluble fraction|nuclear matrix|nuclear membrane|nucleolus|nucleus|PML body	cobalt ion binding|DNA binding|protein binding|protein heterodimerization activity|protein homodimerization activity|SUMO binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding	g.chr15:74335504C>T	AB208950	CCDS10255.1, CCDS10256.1, CCDS10257.1, CCDS10258.1, CCDS45297.1, CCDS45298.1, CCDS45299.1, CCDS45300.1, CCDS58386.1	15q24.1	2011-04-21			ENSG00000140464	ENSG00000140464		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	9113	protein-coding gene	gene with protein product		102578					Standard	NM_033244		Approved	MYL, TRIM19, RNF71	uc002awv.3	P29590	OTTHUMG00000137607	ENST00000268058.3:c.1861+24C>T	15.37:g.74335504C>T						PML_ENST00000564428.1_Missense_Mutation_p.H581Y|PML_ENST00000359928.4_3'UTR|PML_ENST00000268058.3_Intron|PML_ENST00000569965.1_3'UTR|PML_ENST00000565898.1_Intron	p.H629Y	NM_002675.3	NP_002666.1	P29590	PML_HUMAN			8	2025	+			0					E9PBR7|P29591|P29592|P29593|Q00755|Q15959|Q59FP9|Q8WUA0|Q96S41|Q9BPW2|Q9BWP7|Q9BZX6|Q9BZX7|Q9BZX8|Q9BZX9|Q9BZY0|Q9BZY2|Q9BZY3	Missense_Mutation	SNP	ENST00000268058.3	37	c.1885C>T	CCDS10255.1	.	.	.	.	.	.	.	.	.	.	C	2.831	-0.242700	0.05906	.	.	ENSG00000140464	ENST00000395135	.	.	.	4.56	-3.73	0.04398	.	.	.	.	.	T	0.23611	0.0571	.	.	.	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.27468	-1.0073	6	.	.	.	.	10.6426	0.45602	0.0:0.2379:0.0:0.7621	.	581;629	P29590-12;P29590-5	.;.	Y	629	.	.	H	+	1	0	PML	72122557	0.000000	0.05858	0.000000	0.03702	0.040000	0.13550	-1.226000	0.02953	-0.522000	0.06417	-0.332000	0.08345	CAC		0.537	PML-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269021.3	NM_002675		17	37	0	0	0	1	0	17	37					T	74335504	C	T	74335504	1	4	305	0	1	0	0	0	0	0	0	0	12135	594	21	3		3	PML	15	74335504	Intron	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	7954	74335504	28195888	793	15310											
BCL2A1	597	broad.mit.edu	37	chr15	80263148	80263148	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	catccggggcaatttgctgtCgtagaagtttcttgatgaga	9	13	12	7	2	1	3	0	2	1	2	3	4	2	3	1	2	1	4	1	2	3	4	rs138123718		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr15:80263148C>T	ENST00000267953.3	-	1	640	c.314G>A	c.(313-315)cGa>cAa	p.R105Q	BCL2A1_ENST00000335661.6_Missense_Mutation_p.R105Q	NM_004049.3	NP_004040.1	Q16548	B2LA1_HUMAN	BCL2-related protein A1	105					extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of apoptotic process (GO:0043066)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)	mitochondrial outer membrane (GO:0005741)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			endometrium(1)|kidney(2)|large_intestine(4)|lung(3)|pancreas(1)|upper_aerodigestive_tract(1)	12						AATTTGCTGTCGTAGAAGTTT	0.388																																						ENST00000267953.3																			0				endometrium(1)|kidney(2)|large_intestine(4)|lung(3)|pancreas(1)|upper_aerodigestive_tract(1)	12						c.(313-315)cGa>cAa		BCL2-related protein A1		C	GLN/ARG,GLN/ARG	3,4403	6.2+/-15.9	0,3,2200	152	154	153		314,314	-4.2	0	15	dbSNP_134	153	0,8600		0,0,4300	no	missense,missense	BCL2A1	NM_001114735.1,NM_004049.3	43,43	0,3,6500	TT,TC,CC		0.0,0.0681,0.0231	benign,benign	105/164,105/176	80263148	3,13003	2203	4300	6503	SO:0001583	missense	597				anti-apoptosis|apoptosis	cytoplasm	protein binding	g.chr15:80263148C>T		CCDS10312.1, CCDS45322.1	15q24.3	2014-05-20			ENSG00000140379	ENSG00000140379			991	protein-coding gene	gene with protein product		601056		HBPA1		8589678, 12771180	Standard	NM_004049		Approved	GRS, BFL1, BCL2L5, ACC-1, ACC-2	uc002bfc.4	Q16548	OTTHUMG00000144173	ENST00000267953.3:c.314G>A	15.37:g.80263148C>T	ENSP00000267953:p.Arg105Gln					BCL2A1_ENST00000335661.6_Missense_Mutation_p.R105Q	p.R105Q	NM_004049.3	NP_004040.1	Q16548	B2LA1_HUMAN			1	640	-			105					Q6FGZ4|Q6FH19|Q86W13|Q99524	Missense_Mutation	SNP	ENST00000267953.3	37	c.314G>A	CCDS10312.1	.	.	.	.	.	.	.	.	.	.	C	8.322	0.824631	0.16678	6.81E-4	0.0	ENSG00000140379	ENST00000267953;ENST00000335661	T;T	0.12147	2.71;2.71	5.63	-4.16	0.03869	Apoptosis regulator, Bcl2-like (1);Apoptosis regulator, Bcl-2, BH (3);	1.194410	0.06065	N	0.659056	T	0.07683	0.0193	N	0.25245	0.725	0.09310	N	1	B;B	0.17268	0.021;0.015	B;B	0.12156	0.007;0.004	T	0.42481	-0.9449	10	0.13470	T	0.59	-14.8973	7.3817	0.26859	0.0:0.2476:0.2166:0.5358	.	105;105	Q86W13;Q16548	.;B2LA1_HUMAN	Q	105	ENSP00000267953:R105Q;ENSP00000335250:R105Q	ENSP00000267953:R105Q	R	-	2	0	BCL2A1	78050203	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.409000	0.07160	-0.925000	0.03775	-0.140000	0.14226	CGA		0.388	BCL2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000291372.1	NM_004049		68	122	0	0	0	1	0	68	122					T	80263148	C	T	80263148	3	4	305	1	0	0	0	0	1	0	0	0	1366	884	31	2	281	2	BCL2A1	15	80263148	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	5927644	80263148	22268244	794	15311											
IL16	3603	broad.mit.edu	37	chr15	81517754	81517754	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttgaggatggagtcgcacaGccgcgctggaaagagcagaa	12	6	15	8	3	0	3	0	1	0	2	1	6	0	6	1	3	2	3	1	3	2	1			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr15:81517754G>T	ENST00000302987.4	+	1	14	c.14G>T	c.(13-15)aGc>aTc	p.S5I	IL16_ENST00000394660.2_Missense_Mutation_p.S5I			Q14005	IL16_HUMAN	interleukin 16	5					immune response (GO:0006955)|induction of positive chemotaxis (GO:0050930)|leukocyte chemotaxis (GO:0030595)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(3)|skin(3)|stomach(1)|urinary_tract(1)	57						GAGTCGCACAGCCGCGCTGGA	0.542																																						ENST00000394660.2																			0				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(3)|skin(3)|stomach(1)|urinary_tract(1)	57						c.(13-15)aGc>aTc		interleukin 16							49	51	50					15																	81517754		2057	4209	6266	SO:0001583	missense	3603				immune response|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus|plasma membrane	cytokine activity	g.chr15:81517754G>T	U82972	CCDS10317.1, CCDS42069.1, CCDS53966.1	15q26.3	2011-07-14	2011-07-14		ENSG00000172349	ENSG00000172349		"Interleukins and interleukin receptors"	5980	protein-coding gene	gene with protein product	"prointerleukin 16", "lymphocyte chemoattractant factor"	603035	"interleukin 16 (lymphocyte chemoattractant factor)"			9144227	Standard	NM_004513		Approved	LCF, IL-16, prIL-16, HsT19289, FLJ42735, FLJ16806	uc021ssh.1	Q14005	OTTHUMG00000144186	ENST00000302987.4:c.14G>T	15.37:g.81517754G>T	ENSP00000302935:p.Ser5Ile					IL16_ENST00000302987.4_Missense_Mutation_p.S5I	p.S5I	NM_001172128.1|NM_172217.3	NP_001165599.1|NP_757366.2	Q14005	IL16_HUMAN			2	374	+			5					A6NM20|A8MU65|B5TY35|B9EGR6|H3BVH5|Q16435|Q6VVE6|Q6ZMQ7|Q9UP18	Missense_Mutation	SNP	ENST00000302987.4	37	c.14G>T	CCDS42069.1	.	.	.	.	.	.	.	.	.	.	G	10.65	1.410903	0.25465	.	.	ENSG00000172349	ENST00000394655;ENST00000360547;ENST00000394660;ENST00000302987	T;T	0.20881	2.05;2.04	4.18	4.18	0.49190	.	0.315407	0.22784	N	0.055684	T	0.32041	0.0816	M	0.65975	2.015	0.80722	D	1	P;D	0.54964	0.948;0.969	P;P	0.53809	0.548;0.735	T	0.06917	-1.0800	10	0.72032	D	0.01	.	7.4014	0.26967	0.2448:0.0:0.7552:0.0	.	5;5	Q14005;Q14005-2	IL16_HUMAN;.	I	5;47;5;5	ENSP00000378155:S5I;ENSP00000302935:S5I	ENSP00000302935:S5I	S	+	2	0	IL16	79304809	0.788000	0.28762	0.361000	0.25849	0.070000	0.16714	1.634000	0.37123	2.155000	0.67459	0.563000	0.77884	AGC		0.542	IL16-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000303952.1	NM_172217		7	33	1	0	0.0381472	1	0.0383956	7	33					T	81517754	G	T	81517754	3	4	305	1	0	0	0	0	1	0	0	0	7633	971	34	5	16	5	IL16	15	81517754	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	1254606	81517754	21013638	795	15312											
EFTUD1	79631	broad.mit.edu	37	chr15	82523237	82523238	+	Frame_Shift_Ins	INS	-	-	C																															tcatatttatatagtaatctINSccccacaaggttttcataag																										TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr15:82523237_82523238insC	ENST00000268206.7	-	8	974_975	c.806_807insG	c.(805-807)ggafs	p.G269fs	EFTUD1_ENST00000561331.1_5'UTR|EFTUD1_ENST00000359445.3_Frame_Shift_Ins_p.G218fs	NM_024580.5	NP_078856.4	Q7Z2Z2	ETUD1_HUMAN	elongation factor Tu GTP binding domain containing 1	269	tr-type G. {ECO:0000255|PROSITE- ProRule:PRU01059}.				GTP catabolic process (GO:0006184)|mature ribosome assembly (GO:0042256)		GTP binding (GO:0005525)|GTPase activity (GO:0003924)|ribosome binding (GO:0043022)|translation elongation factor activity (GO:0003746)			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(14)|ovary(1)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32						TATAGTAATCTCCCCACAAGGT	0.361																																						ENST00000268206.7																			0				cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(14)|ovary(1)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32						c.(805-807)ggafs		elongation factor Tu GTP binding domain containing 1																																				SO:0001589	frameshift_variant	79631				mature ribosome assembly		GTP binding|GTPase activity|ribosome binding|translation elongation factor activity	g.chr15:82523237_82523238insC	AK056656	CCDS42070.1, CCDS42071.1	15q25.2	2012-07-04			ENSG00000140598	ENSG00000140598			25789	protein-coding gene	gene with protein product	"ribosome assembly 1 homolog (yeast)"					14702039	Standard	NM_024580		Approved	FLJ13119, FAM42A, HsT19294, RIA1	uc002bgt.1	Q7Z2Z2	OTTHUMG00000172573	ENST00000268206.7:c.807dupG	15.37:g.82523241_82523241dupC	ENSP00000268206:p.Gly269fs					EFTUD1_ENST00000359445.3_Frame_Shift_Ins_p.G218fs|EFTUD1_ENST00000561331.1_5'UTR	p.G269fs	NM_024580.5	NP_078856.4	Q7Z2Z2	ETUD1_HUMAN			8	974_975	-			269					A6NKY5|B7Z6I0|Q9H8Z6	Frame_Shift_Ins	INS	ENST00000268206.7	37	c.806_807insG	CCDS42071.1																																																																																				0.361	EFTUD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419252.1	NM_024580		35	62						35	62	---	---	---	---	C	82523238	-	C	82523237	7	5	305	1	0	1	1	0	0	0	0	0	4960	1538	54	0	2607	0	EFTUD1	15	82523237	Frame_Shift_Ins	INS	-	TCGA-KK-A59V-01A-11D-A29Q-08	1005483	82523237	20008155	796	15313											
ADAMTSL3	57188	broad.mit.edu	37	chr15	84581902	84581902	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgggccgggtgtgcaggtcCgtgaggtgaagtgccgtgtg	4	9	21	7	3	0	2	0	2	0	0	1	2	1	2	3	4	2	1	3	4	1	0			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr15:84581902C>T	ENST00000286744.5	+	16	1983	c.1759C>T	c.(1759-1761)Cgt>Tgt	p.R587C	ADAMTSL3_ENST00000567476.1_Missense_Mutation_p.R587C	NM_207517.2	NP_997400.2	P82987	ATL3_HUMAN	ADAMTS-like 3	587	TSP type-1 4. {ECO:0000255|PROSITE- ProRule:PRU00210}.		R -> H (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.			proteinaceous extracellular matrix (GO:0005578)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130			BRCA - Breast invasive adenocarcinoma(143;0.211)			TGTGCAGGTCCGTGAGGTGAA	0.602																																						ENST00000286744.5																			0				NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130						c.(1759-1761)Cgt>Tgt		ADAMTS-like 3							90	82	84					15																	84581902		2203	4300	6503	SO:0001583	missense	57188					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding	g.chr15:84581902C>T	AF237652	CCDS10326.1, CCDS73773.1	15q25.2	2013-01-29			ENSG00000156218	ENSG00000156218		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	14633	protein-coding gene	gene with protein product		609199				9628581, 10574462	Standard	NM_207517		Approved	KIAA1233, punctin-2	uc002bjz.4	P82987	OTTHUMG00000147363	ENST00000286744.5:c.1759C>T	15.37:g.84581902C>T	ENSP00000286744:p.Arg587Cys					ADAMTSL3_ENST00000567476.1_Missense_Mutation_p.R587C	p.R587C	NM_207517.2	NP_997400.2	P82987	ATL3_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.211)		16	1983	+			587		R -> H (in a colorectal cancer sample; somatic mutation).	TSP type-1 4.		A1A566|A1A567|Q9ULI7	Missense_Mutation	SNP	ENST00000286744.5	37	c.1759C>T	CCDS10326.1	.	.	.	.	.	.	.	.	.	.	C	16.82	3.227869	0.58777	.	.	ENSG00000156218	ENST00000286744	T	0.80909	-1.43	4.9	4.9	0.64082	.	0.070349	0.53938	D	0.000047	D	0.93851	0.8033	H	0.99249	4.485	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.95744	0.8786	10	0.87932	D	0	.	13.1271	0.59363	0.16:0.84:0.0:0.0	.	587;587	P82987-2;P82987	.;ATL3_HUMAN	C	587	ENSP00000286744:R587C	ENSP00000286744:R587C	R	+	1	0	ADAMTSL3	82372906	1.000000	0.71417	0.100000	0.21137	0.343000	0.28985	4.242000	0.58714	2.246000	0.74042	0.563000	0.77884	CGT		0.602	ADAMTSL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000304007.2	NM_207517		35	80	0	0	0	1	0	35	80					T	84581902	C	T	84581902	3	4	305	1	0	0	0	0	1	0	0	0	276	652	23	2	1817	2	ADAMTSL3	15	84581902	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	2058665	84581902	17949490	797	15314											
KIF7	374654	broad.mit.edu	37	chr15	90172797	90172797	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtgctgctcctctcggagcGtcaccacctgtcccaagacc	6	8	10	17	2	2	1	1	0	1	1	5	2	4	2	5	2	3	2	5	2	1	0	rs189960711		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr15:90172797G>A	ENST00000394412.3	-	17	3402	c.3326C>T	c.(3325-3327)aCg>aTg	p.T1109M	KIF7_ENST00000558928.1_5'Flank	NM_198525.2	NP_940927.2	Q2M1P5	KIF7_HUMAN	kinesin family member 7	1109					ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|negative regulation of smoothened signaling pathway (GO:0045879)|positive regulation of smoothened signaling pathway (GO:0045880)|smoothened signaling pathway (GO:0007224)|ventricular system development (GO:0021591)	cilium (GO:0005929)|kinesin complex (GO:0005871)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|stomach(1)|urinary_tract(1)	25	Lung NSC(78;0.0237)|all_lung(78;0.0478)		BRCA - Breast invasive adenocarcinoma(143;0.128)			CTCTCGGAGCGTCACCACCTG	0.587													G|||	1	0.000199681	0	0.0014	5008	,	,		14165	0		0	False		,,,				2504	0					ENST00000394412.3																			0				central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|stomach(1)|urinary_tract(1)	25						c.(3325-3327)aCg>aTg		kinesin family member 7							51	48	49					15																	90172797		2200	4299	6499	SO:0001583	missense	374654				microtubule-based movement|negative regulation of smoothened signaling pathway|positive regulation of smoothened signaling pathway	cilium	ATP binding|microtubule motor activity|protein binding	g.chr15:90172797G>A	AY358384	CCDS32325.2	15q26.1	2011-06-02			ENSG00000166813	ENSG00000166813		"Kinesins"	30497	protein-coding gene	gene with protein product		611254				11416179, 15547730	Standard	NM_198525		Approved	JBTS12	uc002bof.2	Q2M1P5	OTTHUMG00000157177	ENST00000394412.3:c.3326C>T	15.37:g.90172797G>A	ENSP00000377934:p.Thr1109Met						p.T1109M	NM_198525.2	NP_940927.2	Q2M1P5	KIF7_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.128)		17	3402	-	Lung NSC(78;0.0237)|all_lung(78;0.0478)		1109					Q3SXY0|Q6UXE9|Q8IW72	Missense_Mutation	SNP	ENST00000394412.3	37	c.3326C>T	CCDS32325.2	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	25.3	4.625456	0.87560	.	.	ENSG00000166813	ENST00000394412	T	0.70631	-0.5	5.06	5.06	0.68205	.	0.100927	0.64402	D	0.000002	T	0.80138	0.4568	L	0.44542	1.39	0.54753	D	0.999989	D;D	0.89917	1.0;0.999	D;P	0.76071	0.987;0.826	T	0.81245	-0.1020	10	0.62326	D	0.03	.	18.6116	0.91286	0.0:0.0:1.0:0.0	.	595;1109	B7ZKY4;Q2M1P5	.;KIF7_HUMAN	M	1109	ENSP00000377934:T1109M	ENSP00000377934:T1109M	T	-	2	0	KIF7	87973801	1.000000	0.71417	0.954000	0.39281	0.994000	0.84299	9.239000	0.95389	2.635000	0.89317	0.462000	0.41574	ACG		0.587	KIF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347782.1	NM_198525		28	62	0	0	0	1	0	28	62					A	90172797	G	A	90172797	3	1	305	1	0	0	0	0	1	0	0	0	8309	1145	40	1	717	1	KIF7	15	90172797	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	5590895	90172797	12358595	798	15315											
KIF7	374654	broad.mit.edu	37	chr15	90190209	90190209	+	Frame_Shift_Del	DEL	C	C	-																															ggccattcaggagccgcgggCccccccagcctggccgcacc																										TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr15:90190209delC	ENST00000394412.3	-	7	1716	c.1640delG	c.(1639-1641)ggcfs	p.G547fs		NM_198525.2	NP_940927.2	Q2M1P5	KIF7_HUMAN	kinesin family member 7	547	Sufficient for interaction with NPHP1.				ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|negative regulation of smoothened signaling pathway (GO:0045879)|positive regulation of smoothened signaling pathway (GO:0045880)|smoothened signaling pathway (GO:0007224)|ventricular system development (GO:0021591)	cilium (GO:0005929)|kinesin complex (GO:0005871)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|stomach(1)|urinary_tract(1)	25	Lung NSC(78;0.0237)|all_lung(78;0.0478)		BRCA - Breast invasive adenocarcinoma(143;0.128)			GAGCCGCGGGCCCCCCCAGCC	0.692											OREG0023460	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000394412.3																			0				central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|stomach(1)|urinary_tract(1)	25						c.(1639-1641)gcfs		kinesin family member 7							16	20	19					15																	90190209		2195	4294	6489	SO:0001589	frameshift_variant	374654				microtubule-based movement|negative regulation of smoothened signaling pathway|positive regulation of smoothened signaling pathway	cilium	ATP binding|microtubule motor activity|protein binding	g.chr15:90190209delC	AY358384	CCDS32325.2	15q26.1	2011-06-02			ENSG00000166813	ENSG00000166813		"Kinesins"	30497	protein-coding gene	gene with protein product		611254				11416179, 15547730	Standard	NM_198525		Approved	JBTS12	uc002bof.2	Q2M1P5	OTTHUMG00000157177	ENST00000394412.3:c.1640delG	15.37:g.90190209delC	ENSP00000377934:p.Gly547fs		OREG0023460	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1273		p.G547fs	NM_198525.2	NP_940927.2	Q2M1P5	KIF7_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.128)		7	1716	-	Lung NSC(78;0.0237)|all_lung(78;0.0478)		547					Q3SXY0|Q6UXE9|Q8IW72	Frame_Shift_Del	DEL	ENST00000394412.3	37	c.1640delG	CCDS32325.2																																																																																				0.692	KIF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347782.1	NM_198525		12	32						12	32	---	---	---	---	-	90190209	C	-	90190209	7	5	305	1	0	1	0	1	0	0	0	0	8309	739	26	0	2443	0	KIF7	15	90190209	Frame_Shift_Del	DEL	C	TCGA-KK-A59V-01A-11D-A29Q-08	17412	90190209	12341183	799	15316											
C15orf38	348110	broad.mit.edu	37	chr15	90451588	90451588	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgatttcatttcccttggcGtcgaatttacggcgatggat	7	15	10	9	5	1	0	1	0	0	0	4	4	2	1	1	3	1	0	1	3	2	5	rs531934995		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr15:90451588G>A	ENST00000357484.5	-	3	345	c.225C>T	c.(223-225)gaC>gaT	p.D75D	C15orf38_ENST00000460685.1_De_novo_Start_OutOfFrame|C15orf38-AP3S2_ENST00000398333.3_Silent_p.D75D	NM_001282380.1|NM_182616.2	NP_001269309.1|NP_872422.1	Q7Z6K5	ARPIN_HUMAN		75					directional locomotion (GO:0033058)|negative regulation of actin nucleation (GO:0051126)|negative regulation of cell migration (GO:0030336)|negative regulation of lamellipodium morphogenesis (GO:2000393)	lamellipodium (GO:0030027)				breast(3)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)	10	Melanoma(11;0.0171)|Lung NSC(78;0.0181)|all_lung(78;0.0384)		BRCA - Breast invasive adenocarcinoma(143;0.0107)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.223)			TTCCCTTGGCGTCGAATTTAC	0.582													G|||	1	0.000199681	8e-04	0	5008	,	,		19014	0		0	False		,,,				2504	0					ENST00000460685.1																			0				breast(3)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)	10								chromosome 15 open reading frame 38							114	121	119					15																	90451588		2099	4215	6314	SO:0001819	synonymous_variant	348110							g.chr15:90451588G>A																												ENST00000357484.5:c.225C>T	15.37:g.90451588G>A						C15orf38-AP3S2_ENST00000398333.3_Silent_p.D75D|C15orf38_ENST00000357484.5_Silent_p.D75D						BRCA - Breast invasive adenocarcinoma(143;0.0107)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.223)		0	768	-	Melanoma(11;0.0171)|Lung NSC(78;0.0181)|all_lung(78;0.0384)							E2QRD5	Translation_Start_Site	SNP	ENST00000357484.5	37		CCDS42080.1																																																																																				0.582	C15orf38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335629.1			31	61	0	0	0	1	0	31	61					A	90451588	G	A	90451588	2	1	305	1	0	0	0	0	0	0	0	1	1792	1136	40	1		1	C15orf38	15	90451588	Silent	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	261379	90451588	12079804	800	15317											
SV2B	9899	broad.mit.edu	37	chr15	91769874	91769874	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gccgatggggtggaagtgttCgtggtgagttttgccctgcc	4	12	17	8	2	0	1	0	1	0	0	1	3	0	2	3	4	2	2	3	4	1	3	rs148654261		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr15:91769874C>T	ENST00000394232.1	+	2	851	c.381C>T	c.(379-381)ttC>ttT	p.F127F	SV2B_ENST00000557291.1_Intron|SV2B_ENST00000545111.2_Intron|SV2B_ENST00000330276.4_Silent_p.F127F	NM_014848.4	NP_055663.1	Q7L1I2	SV2B_HUMAN	synaptic vesicle glycoprotein 2B	127					neurotransmitter transport (GO:0006836)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|synaptic vesicle (GO:0008021)	transmembrane transporter activity (GO:0022857)			NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(17)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	42	Lung NSC(78;0.0987)|all_lung(78;0.172)		BRCA - Breast invasive adenocarcinoma(143;0.0895)			TGGAAGTGTTCGTGGTGAGTT	0.512																																						ENST00000394232.1																			0				NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(17)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	42						c.(379-381)ttC>ttT		synaptic vesicle glycoprotein 2B		C	,	0,4396		0,0,2198	123	95	104		,381	-8.2	0.8	15	dbSNP_134	104	2,8594	2.2+/-6.3	0,2,4296	no	intron,coding-synonymous	SV2B	NM_001167580.1,NM_014848.4	,	0,2,6494	TT,TC,CC		0.0233,0.0,0.0154	,	,127/684	91769874	2,12990	2198	4298	6496	SO:0001819	synonymous_variant	9899				neurotransmitter transport	acrosomal vesicle|cell junction|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity	g.chr15:91769874C>T	AB018278	CCDS10370.1, CCDS53972.1	15q26.1	2005-01-10			ENSG00000185518	ENSG00000185518			16874	protein-coding gene	gene with protein product		185861				9872452, 7681585	Standard	NM_014848		Approved	KIAA0735, HsT19680	uc002bqv.3	Q7L1I2	OTTHUMG00000149833	ENST00000394232.1:c.381C>T	15.37:g.91769874C>T						SV2B_ENST00000545111.2_Intron|SV2B_ENST00000330276.4_Silent_p.F127F|SV2B_ENST00000557291.1_Intron	p.F127F	NM_014848.4	NP_055663.1	Q7L1I2	SV2B_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0895)		2	851	+	Lung NSC(78;0.0987)|all_lung(78;0.172)		127					B4DH30|C6G489|O94840|Q6IAR8	Silent	SNP	ENST00000394232.1	37	c.381C>T	CCDS10370.1																																																																																				0.512	SV2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313494.3	NM_014848		10	40	0	0	0	1	0	10	40					T	91769874	C	T	91769874	2	4	305	1	0	0	0	0	0	0	0	1	15415	883	31	2		2	SV2B	15	91769874	Silent	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	1318286	91769874	10761518	801	15318											
RHBDF1	64285	broad.mit.edu	37	chr16	114720	114720	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggatggtctgtgtgatggaCgtctggcgttgcagcaccgg	5	10	17	9	4	2	1	0	1	2	0	2	3	2	3	1	5	2	3	1	5	0	1			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr16:114720C>T	ENST00000262316.6	-	3	367	c.225G>A	c.(223-225)acG>acA	p.T75T	RHBDF1_ENST00000454039.2_Silent_p.T75T	NM_022450.3	NP_071895.3	Q96CC6	RHDF1_HUMAN	rhomboid 5 homolog 1 (Drosophila)	75					cell migration (GO:0016477)|cell proliferation (GO:0008283)|negative regulation of protein secretion (GO:0050709)|protein transport (GO:0015031)|proteolysis (GO:0006508)|regulation of epidermal growth factor receptor signaling pathway (GO:0042058)|regulation of proteasomal protein catabolic process (GO:0061136)|regulation of protein secretion (GO:0050708)	endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	18		all_cancers(16;2.56e-05)|all_epithelial(16;0.000116)|Hepatocellular(780;0.0068)|Lung NSC(18;0.0795)|all_lung(18;0.159)				GTGTGATGGACGTCTGGCGTT	0.642																																						ENST00000262316.6																			0				breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	18						c.(223-225)acG>acA		rhomboid 5 homolog 1 (Drosophila)							121	123	122					16																	114720		2203	4300	6503	SO:0001819	synonymous_variant	64285				cell migration|cell proliferation|negative regulation of protein secretion|protein transport|proteolysis|regulation of epidermal growth factor receptor signaling pathway|regulation of proteasomal protein catabolic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane	growth factor binding|serine-type endopeptidase activity	g.chr16:114720C>T	BC014425	CCDS32344.1	16p13.3	2008-02-05	2006-02-22		ENSG00000007384	ENSG00000007384			20561	protein-coding gene	gene with protein product		614403	"chromosome 16 open reading frame 8", "rhomboid family 1 (Drosophila)"	C16orf8		8318735, 15965977	Standard	NM_022450		Approved	EGFR-RS, FLJ2235, Dist1	uc002cfl.4	Q96CC6	OTTHUMG00000060719	ENST00000262316.6:c.225G>A	16.37:g.114720C>T						RHBDF1_ENST00000454039.2_Silent_p.T75T	p.T75T	NM_022450.3	NP_071895.3	Q96CC6	RHDF1_HUMAN			3	367	-		all_cancers(16;2.56e-05)|all_epithelial(16;0.000116)|Hepatocellular(780;0.0068)|Lung NSC(18;0.0795)|all_lung(18;0.159)	75					Q04842|Q1W6H2|Q4TT59|Q96S34|Q9H6E1	Silent	SNP	ENST00000262316.6	37	c.225G>A	CCDS32344.1																																																																																				0.642	RHBDF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000134178.2	NM_022450		5	151	0	0	0	1	0	5	151					T	114720	C	T	114720	2	4	305	1	0	0	0	0	0	0	0	1	13319	523	19	1		1	RHBDF1	16	114720	Silent	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08		114720	90240033	802	15319											
RGS11	8786	broad.mit.edu	37	chr16	321398	321398	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccacccctcaccccactcacGcctcaaggcagacggaggac	10	3	8	20	2	3	1	3	0	0	1	3	3	3	3	6	3	0	1	6	3	1	0			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr16:321398G>A	ENST00000397770.3	-	11	766	c.749C>T	c.(748-750)gCg>gTg	p.A250V	RGS11_ENST00000359740.5_Splice_Site_p.A239V|RGS11_ENST00000316163.5_Splice_Site_p.A229V|ARHGDIG_ENST00000464609.1_Intron			O94810	RGS11_HUMAN	regulator of G-protein signaling 11	250	G protein gamma.				G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|positive regulation of GTPase activity (GO:0043547)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|dendrite terminus (GO:0044292)|heterotrimeric G-protein complex (GO:0005834)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	G-protein beta-subunit binding (GO:0031681)|GTPase activator activity (GO:0005096)|signal transducer activity (GO:0004871)			endometrium(1)|kidney(1)|lung(4)|ovary(1)|pancreas(1)	8		all_cancers(16;6.71e-07)|all_epithelial(16;1.59e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00769)|all_lung(18;0.0186)				CCCCACTCACGCCTCAAGGCA	0.647																																						ENST00000397770.3																			0				endometrium(1)|kidney(1)|lung(4)|ovary(1)|pancreas(1)	8						c.e11+1		regulator of G-protein signaling 11							53	52	53					16																	321398		2203	4300	6503	SO:0001630	splice_region_variant	8786				G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|signal transducer activity	g.chr16:321398G>A	AF035153	CCDS10403.1, CCDS42088.1, CCDS66884.1	16p13.3	2008-07-28	2007-08-14		ENSG00000076344	ENSG00000076344		"Regulators of G-protein signaling"	9993	protein-coding gene	gene with protein product		603895	"regulator of G-protein signalling 11"			9789084	Standard	NM_001286486		Approved		uc002cgj.1	O94810	OTTHUMG00000064893	ENST00000397770.3:c.749+1C>T	16.37:g.321398G>A						RGS11_ENST00000359740.5_Splice_Site_p.A239_splice|ARHGDIG_ENST00000464609.1_Intron|RGS11_ENST00000316163.5_Splice_Site_p.A229_splice	p.A250_splice			O94810	RGS11_HUMAN			11	766	-		all_cancers(16;6.71e-07)|all_epithelial(16;1.59e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00769)|all_lung(18;0.0186)	250			G protein gamma.		O75883|Q4TT71|Q4TT72	Splice_Site	SNP	ENST00000397770.3	37	c.749_splice	CCDS42088.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.017438	0.75161	.	.	ENSG00000076344	ENST00000397770;ENST00000316163;ENST00000359740	T;T;T	0.22945	1.93;1.93;1.93	5.04	4.01	0.46588	G-protein gamma domain (4);	0.209202	0.40385	N	0.001120	T	0.43743	0.1261	M	0.81497	2.545	0.80722	D	1	D;D;D	0.63046	0.99;0.992;0.992	P;P;P	0.55345	0.664;0.774;0.774	T	0.45629	-0.9248	9	.	.	.	-19.0046	12.0628	0.53572	0.0:0.3504:0.6496:0.0	.	239;250;250	O94810-2;Q4TT70;O94810	.;.;RGS11_HUMAN	V	250;229;239	ENSP00000380876:A250V;ENSP00000319069:A229V;ENSP00000352778:A239V	.	A	-	2	0	RGS11	261399	1.000000	0.71417	1.000000	0.80357	0.826000	0.46750	2.586000	0.46119	2.337000	0.79520	0.455000	0.32223	GCG		0.647	RGS11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139325.2		Missense_Mutation	24	37	0	0	0	1	0	24	37					A	321398	G	A	321398	5	1	305	1	0	0	0	0	0	0	1	0	13294	1101	38	1	682	1	RGS11	16	321398	Splice_Site	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	206678	321398	90033355	803	15320											
JMJD8	339123	broad.mit.edu	37	chr16	733031	733031	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtgtcccggagccaggccagCgtggtcttgttggggtggaa	5	9	18	9	2	1	0	0	0	1	0	2	2	2	2	3	6	2	1	3	6	1	2			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr16:733031C>T	ENST00000293882.4	-	8	845	c.846G>A	c.(844-846)acG>acA	p.T282T	JMJD8_ENST00000454700.1_Silent_p.T252T|JMJD8_ENST00000412368.2_Silent_p.T233T|JMJD8_ENST00000609261.1_Silent_p.T212T|JMJD8_ENST00000562111.1_Intron|JMJD8_ENST00000562824.1_Silent_p.T182T			Q96S16	JMJD8_HUMAN	jumonji domain containing 8	282	JmjC. {ECO:0000255|PROSITE- ProRule:PRU00538}.					extracellular vesicular exosome (GO:0070062)				breast(1)	1						GCCAGGCCAGCGTGGTCTTGT	0.642																																						ENST00000293882.4																			0				breast(1)	1						c.(844-846)acG>acA		jumonji domain containing 8							87	102	97					16																	733031		2127	4233	6360	SO:0001819	synonymous_variant	339123							g.chr16:733031C>T		CCDS45369.1	16p13.3	2008-07-28	2008-07-28	2008-07-28		ENSG00000161999			14148	protein-coding gene	gene with protein product			"chromosome 16 open reading frame 20"	C16orf20			Standard	NM_001005920		Approved		uc002ciw.1	Q96S16		ENST00000293882.4:c.846G>A	16.37:g.733031C>T						JMJD8_ENST00000412368.2_Silent_p.T233T|JMJD8_ENST00000562824.1_Silent_p.T182T|JMJD8_ENST00000562111.1_Intron|JMJD8_ENST00000454700.1_Silent_p.T252T	p.T282T			Q96S16	JMJD8_HUMAN			8	845	-			282			JmjC.		B2RNS7|D3DU58|Q4PKE3|Q4VBY1|Q6GMW5|Q71RB8	Silent	SNP	ENST00000293882.4	37	c.846G>A																																																																																					0.642	JMJD8-201	KNOWN	basic	protein_coding	protein_coding		NM_001005920		39	56	0	0	0	1	0	39	56					T	733031	C	T	733031	2	4	305	1	0	0	0	0	0	0	0	1	7956	755	27	1		1	JMJD8	16	733031	Silent	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	411633	733031	89621722	804	15321											
MAPK8IP3	23162	broad.mit.edu	37	chr16	1817703	1817703	+	Frame_Shift_Del	DEL	G	G	-																															cgcaccagcatctacaggacGtggacattgagccctacgtc																										TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr16:1817703delG	ENST00000250894.4	+	27	3530	c.3373delG	c.(3373-3375)gtgfs	p.V1125fs	MAPK8IP3_ENST00000356010.5_Frame_Shift_Del_p.V1119fs	NM_015133.3	NP_055948.2	Q9UPT6	JIP3_HUMAN	mitogen-activated protein kinase 8 interacting protein 3	1125					activation of JUN kinase activity (GO:0007257)|axon guidance (GO:0007411)|forebrain development (GO:0030900)|in utero embryonic development (GO:0001701)|lung alveolus development (GO:0048286)|lung morphogenesis (GO:0060425)|positive regulation of neuron differentiation (GO:0045666)|post-embryonic development (GO:0009791)|protein localization (GO:0008104)|regulation of gene expression (GO:0010468)|regulation of JNK cascade (GO:0046328)|respiratory gaseous exchange (GO:0007585)|vesicle-mediated transport (GO:0016192)	axolemma (GO:0030673)|dendrite (GO:0030425)|Golgi membrane (GO:0000139)|smooth endoplasmic reticulum (GO:0005790)	kinesin binding (GO:0019894)|MAP-kinase scaffold activity (GO:0005078)			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3)	42						TCTACAGGACGTGGACATTGA	0.647																																						ENST00000250894.4																			0				NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3)	42						c.(3373-3375)tgfs		mitogen-activated protein kinase 8 interacting protein 3							31	35	34					16																	1817703		2143	4275	6418	SO:0001589	frameshift_variant	23162				vesicle-mediated transport	Golgi membrane	kinesin binding|MAP-kinase scaffold activity|protein kinase binding	g.chr16:1817703delG	AB028989	CCDS10442.2, CCDS45379.1	16p13.3	2009-11-23			ENSG00000138834	ENSG00000138834			6884	protein-coding gene	gene with protein product	"homolog of Drosophila Sunday driver 2"	605431				10523642, 10629060	Standard	XM_005255187		Approved	KIAA1066, JSAP1, JIP3, syd	uc002cmk.3	Q9UPT6	OTTHUMG00000128637	ENST00000250894.4:c.3373delG	16.37:g.1817703delG	ENSP00000250894:p.Val1125fs					MAPK8IP3_ENST00000356010.5_Frame_Shift_Del_p.V1119fs	p.V1125fs	NM_015133.3	NP_055948.2	Q9UPT6	JIP3_HUMAN			27	3530	+			1125					A2A2B3|A7E2B3|Q96RY4|Q9H4I4|Q9H7P1|Q9NUG0	Frame_Shift_Del	DEL	ENST00000250894.4	37	c.3373delG	CCDS10442.2																																																																																				0.647	MAPK8IP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250508.2	NM_001040439		13	44						13	44	---	---	---	---	-	1817703	G	-	1817703	7	5	305	1	0	1	0	1	0	0	0	0	9286	1145	40	0	3495	0	MAPK8IP3	16	1817703	Frame_Shift_Del	DEL	G	TCGA-KK-A59V-01A-11D-A29Q-08	1084672	1817703	88537050	805	15322											
TBL3	10607	broad.mit.edu	37	chr16	2025082	2025082	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcactggccttcagcgccgaCggccacaccatgctcaggtc	7	7	10	17	3	3	0	3	0	0	0	4	1	3	0	4	3	2	1	4	3	0	1	rs199830238		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr16:2025082C>T	ENST00000568546.1	+	7	746	c.618C>T	c.(616-618)gaC>gaT	p.D206D		NM_006453.2	NP_006444.2	Q12788	TBL3_HUMAN	transducin (beta)-like 3	206					G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:0007199)|intracellular signal transduction (GO:0035556)|rRNA processing (GO:0006364)	nucleolus (GO:0005730)|nucleus (GO:0005634)|small-subunit processome (GO:0032040)	poly(A) RNA binding (GO:0044822)|receptor signaling protein activity (GO:0005057)			breast(1)|endometrium(2)|kidney(4)|lung(7)|ovary(1)|prostate(2)|skin(1)	18						TCAGCGCCGACGGCCACACCA	0.652													C|||	1	0.000199681	0	0	5008	,	,		18137	0.001		0	False		,,,				2504	0				Melanoma(118;616 1651 35077 38081 48633)	ENST00000568546.1																			0				breast(1)|endometrium(2)|kidney(4)|lung(7)|ovary(1)|prostate(2)|skin(1)	18						c.(616-618)gaC>gaT		transducin (beta)-like 3							35	36	36					16																	2025082		2197	4300	6497	SO:0001819	synonymous_variant	10607				G-protein signaling, coupled to cGMP nucleotide second messenger|rRNA processing	nucleolus|small-subunit processome	receptor signaling protein activity	g.chr16:2025082C>T	U02609	CCDS10453.1	16p13.3	2013-01-10			ENSG00000183751	ENSG00000183751		"WD repeat domain containing"	11587	protein-coding gene	gene with protein product		605915				8307582	Standard	NM_006453		Approved	SAZD, UTP13	uc002cnu.1	Q12788	OTTHUMG00000128710	ENST00000568546.1:c.618C>T	16.37:g.2025082C>T							p.D206D	NM_006453.2	NP_006444.2	Q12788	TBL3_HUMAN			7	746	+			206					Q59GD6|Q8IVB7|Q96A78	Silent	SNP	ENST00000568546.1	37	c.618C>T	CCDS10453.1																																																																																				0.652	TBL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250615.3	NM_006453		9	60	0	0	0	1	0	9	60					T	2025082	C	T	2025082	2	4	305	1	0	0	0	0	0	0	0	1	15640	535	19	1		1	TBL3	16	2025082	Silent	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	207379	2025082	88329671	806	15323											
SLC9A3R2	9351	broad.mit.edu	37	chr16	2086422	2086422	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctgcatagtgacaagtcccGgcccggccagtacatccgct	8	7	10	16	3	0	1	0	1	0	0	2	1	2	1	5	2	2	3	5	2	3	2	rs555526303	byFrequency	TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr16:2086422G>A	ENST00000424542.2	+	3	650	c.512G>A	c.(511-513)cGg>cAg	p.R171Q	SLC9A3R2_ENST00000565086.1_3'UTR|SLC9A3R2_ENST00000566198.1_Missense_Mutation_p.R60Q|SLC9A3R2_ENST00000563587.1_Missense_Mutation_p.R65Q|SLC9A3R2_ENST00000432365.2_Missense_Mutation_p.R171Q	NM_001130012.2|NM_004785.5	NP_001123484.1|NP_004776.3	Q15599	NHRF2_HUMAN	solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3 regulator 2	171	PDZ 2. {ECO:0000255|PROSITE- ProRule:PRU00143}.				negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|protein complex assembly (GO:0006461)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|phosphatase binding (GO:0019902)|protein C-terminus binding (GO:0008022)|receptor binding (GO:0005102)			central_nervous_system(1)|endometrium(1)	2						GACAAGTCCCGGCCCGGCCAG	0.687													g|||	2	0.000399361	0	0.0014	5008	,	,		15509	0.001		0	False		,,,				2504	0				Ovarian(69;105 1552 17724 23473)	ENST00000424542.2																			0				central_nervous_system(1)|endometrium(1)	2						c.(511-513)cGg>cAg		solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3 regulator 2							16	22	20					16																	2086422		2060	4200	6260	SO:0001583	missense	9351				protein complex assembly	apical plasma membrane|endomembrane system|nucleus	beta-catenin binding|phosphatase binding|protein C-terminus binding|receptor binding	g.chr16:2086422G>A	AF004900	CCDS45382.1, CCDS45383.1, CCDS58407.1	16p13.3	2014-09-04	2012-03-22		ENSG00000065054	ENSG00000065054			11076	protein-coding gene	gene with protein product		606553	"solute carrier family 9 (sodium/hydrogen exchanger), isoform 3 regulatory factor 2", "solute carrier family 9 (sodium/hydrogen exchanger), isoform 3 regulator 2", "solute carrier family 9 (sodium/hydrogen exchanger), member 3 regulator 2"			9054412, 9671706	Standard	NM_001130012		Approved	SIP-1, TKA-1, NHERF-2, E3KARP	uc002coi.3	Q15599	OTTHUMG00000176956	ENST00000424542.2:c.512G>A	16.37:g.2086422G>A	ENSP00000408005:p.Arg171Gln					SLC9A3R2_ENST00000566198.1_Missense_Mutation_p.R60Q|SLC9A3R2_ENST00000565086.1_3'UTR|SLC9A3R2_ENST00000432365.2_Missense_Mutation_p.R171Q|SLC9A3R2_ENST00000563587.1_Missense_Mutation_p.R65Q	p.R171Q	NM_001130012.2|NM_004785.5	NP_001123484.1|NP_004776.3	Q15599	NHRF2_HUMAN			3	650	+			171			PDZ 2.		D3DU84|D3DU85|H3BSV6|O00272|O00556|Q3KQY7	Missense_Mutation	SNP	ENST00000424542.2	37	c.512G>A	CCDS45382.1	.	.	.	.	.	.	.	.	.	.	g	16.49	3.137239	0.56936	.	.	ENSG00000065054	ENST00000424542;ENST00000432365	T;T	0.24908	1.83;1.83	4.05	4.05	0.47172	PDZ/DHR/GLGF (4);	0.000000	0.85682	D	0.000000	T	0.37865	0.1019	L	0.33753	1.03	0.52501	D	0.999953	D;D;D	0.76494	0.999;0.995;0.999	D;P;D	0.70935	0.969;0.887;0.971	T	0.09997	-1.0649	10	0.34782	T	0.22	-33.5443	15.3827	0.74673	0.0:0.0:1.0:0.0	.	206;171;171	Q6NTG0;D3DU85;Q15599	.;.;NHRF2_HUMAN	Q	171	ENSP00000408005:R171Q;ENSP00000402857:R171Q	ENSP00000408005:R171Q	R	+	2	0	SLC9A3R2	2026423	0.994000	0.37717	1.000000	0.80357	0.691000	0.40173	2.792000	0.47837	2.092000	0.63282	0.306000	0.20318	CGG		0.687	SLC9A3R2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434448.1			5	11	0	0	0	1	0	5	11					A	2086422	G	A	2086422	3	1	305	1	0	0	0	0	1	0	0	0	14715	1116	39	2	522	2	SLC9A3R2	16	2086422	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	61340	2086422	88268331	807	15324											
PKD1	5310	broad.mit.edu	37	chr16	2160097	2160097	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagctgcacatggtaggtgcCggcctcgagcacggtgagcg	7	6	16	12	4	0	1	0	1	0	0	1	2	0	1	2	4	5	4	2	4	1	1	rs552542784		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr16:2160097C>T	ENST00000262304.4	-	15	5279	c.5071G>A	c.(5071-5073)Ggc>Agc	p.G1691S	RP11-304L19.4_ENST00000568795.1_RNA|PKD1_ENST00000423118.1_Missense_Mutation_p.G1691S	NM_001009944.2	NP_001009944	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	1691	PKD 12. {ECO:0000255|PROSITE- ProRule:PRU00151}.				anatomical structure morphogenesis (GO:0009653)|branching morphogenesis of an epithelial tube (GO:0048754)|calcium ion transmembrane transport (GO:0070588)|calcium-independent cell-matrix adhesion (GO:0007161)|cartilage condensation (GO:0001502)|cartilage development (GO:0051216)|cation transmembrane transport (GO:0098655)|cell cycle arrest (GO:0007050)|cell-matrix adhesion (GO:0007160)|cytoplasmic sequestering of transcription factor (GO:0042994)|detection of mechanical stimulus (GO:0050982)|digestive tract development (GO:0048565)|embryonic placenta development (GO:0001892)|genitalia development (GO:0048806)|heart development (GO:0007507)|homophilic cell adhesion (GO:0007156)|in utero embryonic development (GO:0001701)|JAK-STAT cascade (GO:0007259)|kidney development (GO:0001822)|liver development (GO:0001889)|lung epithelium development (GO:0060428)|mesonephric duct development (GO:0072177)|mesonephric tubule development (GO:0072164)|metanephric ascending thin limb development (GO:0072218)|metanephric collecting duct development (GO:0072205)|metanephric distal tubule morphogenesis (GO:0072287)|metanephric proximal tubule development (GO:0072237)|neural tube development (GO:0021915)|neuropeptide signaling pathway (GO:0007218)|nitrogen compound metabolic process (GO:0006807)|peptidyl-serine phosphorylation (GO:0018105)|placenta blood vessel development (GO:0060674)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of protein binding (GO:0032092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein export from nucleus (GO:0006611)|regulation of mitotic spindle organization (GO:0060236)|regulation of proteasomal protein catabolic process (GO:0061136)|response to fluid shear stress (GO:0034405)|skin development (GO:0043588)|spinal cord development (GO:0021510)	basolateral plasma membrane (GO:0016323)|cilium (GO:0005929)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|motile primary cilium (GO:0031512)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|polycystin complex (GO:0002133)	calcium channel activity (GO:0005262)|carbohydrate binding (GO:0030246)|cation channel activity (GO:0005261)|ion channel binding (GO:0044325)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						TGGTAGGTGCCGGCCTCGAGC	0.687																																						ENST00000262304.4																			0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						c.(5071-5073)Ggc>Agc		polycystic kidney disease 1 (autosomal dominant)							15	16	15					16																	2160097		2172	4283	6455	SO:0001583	missense	5310				calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding	g.chr16:2160097C>T	L33243	CCDS32369.1, CCDS45385.1	16p13.3	2014-01-28			ENSG00000008710	ENSG00000008710		"Voltage-gated ion channels / Transient receptor potential cation channels"	9008	protein-coding gene	gene with protein product	"polycystin 1", "transient receptor potential cation channel, subfamily P, member 1"	601313					Standard	NM_001009944		Approved	PBP, Pc-1, TRPP1	uc002cos.1	P98161	OTTHUMG00000155795	ENST00000262304.4:c.5071G>A	16.37:g.2160097C>T	ENSP00000262304:p.Gly1691Ser					PKD1_ENST00000423118.1_Missense_Mutation_p.G1691S	p.G1691S	NM_001009944.2	NP_001009944.2	P98161	PKD1_HUMAN			15	5279	-			1691			PKD 12.		Q15140|Q15141	Missense_Mutation	SNP	ENST00000262304.4	37	c.5071G>A	CCDS32369.1	.	.	.	.	.	.	.	.	.	.	c	10.52	1.373048	0.24857	.	.	ENSG00000008710	ENST00000262304;ENST00000423118;ENST00000306101	T;T	0.78126	-1.15;-1.15	5.41	1.05	0.20165	PKD/Chitinase domain (1);Polycystin cation channel (1);PKD domain (3);	0.169048	0.51477	N	0.000088	T	0.64170	0.2574	L	0.29908	0.895	0.32912	D	0.514591	B;P	0.43578	0.172;0.811	B;B	0.41466	0.047;0.358	T	0.66866	-0.5815	10	0.41790	T	0.15	.	8.6594	0.34084	0.0:0.6697:0.0:0.3303	.	1691;1691	P98161-3;P98161	.;PKD1_HUMAN	S	1691;1691;1223	ENSP00000262304:G1691S;ENSP00000399501:G1691S	ENSP00000262304:G1691S	G	-	1	0	PKD1	2100098	0.949000	0.32298	0.106000	0.21319	0.040000	0.13550	2.315000	0.43752	-0.043000	0.13513	-1.108000	0.02087	GGC		0.687	PKD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341688.1			9	13	0	0	0	1	0	9	13					T	2160097	C	T	2160097	3	4	305	1	0	0	0	0	1	0	0	0	11963	652	23	2	7968	2	PKD1	16	2160097	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	73675	2160097	88194656	808	15325											
C16orf79	283870	broad.mit.edu	37	chr16	2259563	2259563	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctgactcaccctctgctcGccgggcccagtagatggggg	5	8	13	15	2	2	2	1	1	1	1	4	2	3	2	4	3	1	2	4	3	1	1	rs374169284		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr16:2259563G>A	ENST00000562360.1	-	5	582	c.583C>T	c.(583-585)Cga>Tga	p.R195*	BRICD5_ENST00000328540.3_Nonsense_Mutation_p.R195*|RP11-304L19.8_ENST00000561544.1_lincRNA			Q6PL45	BRID5_HUMAN	BRICHOS domain containing 5	195						integral component of membrane (GO:0016021)		p.R195*(1)									CCCTCTGCTCGCCGGGCCCAG	0.697																																						ENST00000328540.3																			1	Substitution - Nonsense(1)	p.R195*(1)	endometrium(1)								c.(583-585)Cga>Tga		BRICHOS domain containing 5		G	stop/ARG	1,4393		0,1,2196	47	59	55		583	0.7	0	16		55	0,8592		0,0,4296	no	stop-gained	C16orf79	NM_182563.3		0,1,6492	AA,AG,GG		0.0,0.0228,0.0077		195/229	2259563	1,12985	2197	4296	6493	SO:0001587	stop_gained	283870							g.chr16:2259563G>A	BC039154	CCDS10463.1	16p13.3	2012-10-10	2012-10-10	2012-10-10	ENSG00000182685	ENSG00000182685		"BRICHOS domain containing"	28309	protein-coding gene	gene with protein product			"chromosome 16 open reading frame 79"	C16orf79		12477932	Standard	NM_182563		Approved	MGC21830	uc002cpi.2	Q6PL45	OTTHUMG00000128831	ENST00000562360.1:c.583C>T	16.37:g.2259563G>A	ENSP00000455052:p.Arg195*					BRICD5_ENST00000562360.1_Nonsense_Mutation_p.R195*	p.R195*	NM_182563.3	NP_872369.2					5	1699	-								C9J7K2|Q8IXU9	Nonsense_Mutation	SNP	ENST00000562360.1	37	c.583C>T	CCDS10463.1	.	.	.	.	.	.	.	.	.	.	G	44	10.942214	0.99492	2.28E-4	0.0	ENSG00000182685	ENST00000328540	.	.	.	5.95	0.661	0.17874	.	0.332684	0.30528	N	0.009425	.	.	.	.	.	.	0.09310	N	0.999997	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-13.8448	3.9722	0.09458	0.2687:0.0:0.4298:0.3015	.	.	.	.	X	195	.	ENSP00000332389:R195X	R	-	1	2	C16orf79	2199564	0.020000	0.18652	0.002000	0.10522	0.063000	0.16089	2.120000	0.41968	0.831000	0.34780	0.655000	0.94253	CGA		0.697	BRICD5-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000435091.1	NM_182563		27	154	0	0	0	1	0	27	154					A	2259563	G	A	2259563	4	1	305	1	0	0	0	0	0	1	0	0	1836	1095	38	1	111	1	C16orf79	16	2259563	Nonsense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	99466	2259563	88095190	809	15326											
DCI	1632	broad.mit.edu	37	chr16	2290114	2290114	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcggctggccgtggcctttcGcatcatggccttggtcagct	3	11	14	13	3	2	0	2	0	0	0	3	0	2	0	3	5	1	3	3	5	0	2			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr16:2290114G>A	ENST00000301729.4	-	7	822	c.775C>T	c.(775-777)Cga>Tga	p.R259*	ECI1_ENST00000570258.1_Nonsense_Mutation_p.R200*|ECI1_ENST00000562238.1_Nonsense_Mutation_p.R242*|RP11-304L19.11_ENST00000565709.1_RNA	NM_001919.3	NP_001910.2	P42126	ECI1_HUMAN	enoyl-CoA delta isomerase 1	259					cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	dodecenoyl-CoA delta-isomerase activity (GO:0004165)|intramolecular oxidoreductase activity (GO:0016860)			endometrium(1)|large_intestine(2)|lung(6)	9						GTGGCCTTTCGCATCATGGCC	0.557																																						ENST00000301729.4																			0				endometrium(1)|large_intestine(2)|lung(6)	9						c.(775-777)Cga>Tga		enoyl-CoA delta isomerase 1							56	55	55					16																	2290114		2197	4300	6497	SO:0001587	stop_gained	1632				fatty acid beta-oxidation	mitochondrial matrix	dodecenoyl-CoA delta-isomerase activity	g.chr16:2290114G>A		CCDS10464.1, CCDS58410.1	16p13.3	2011-03-15	2011-03-15	2011-03-15	ENSG00000167969	ENSG00000167969	5.3.3.8		2703	protein-coding gene	gene with protein product	"3,2 trans-enoyl-CoA isomerase"	600305	"dodecenoyl-Coenzyme A delta isomerase (3,2 trans-enoyl-Coenzyme A isomerase)", "dodecenoyl-CoA isomerase"	DCI		7829074	Standard	NM_001178029		Approved		uc002cpr.3	P42126	OTTHUMG00000128830	ENST00000301729.4:c.775C>T	16.37:g.2290114G>A	ENSP00000301729:p.Arg259*					ECI1_ENST00000570258.1_Nonsense_Mutation_p.R200*|ECI1_ENST00000562238.1_Nonsense_Mutation_p.R242*	p.R259*	NM_001919.3	NP_001910.2	P42126	ECI1_HUMAN			7	822	-			259					A8K512|Q13290|Q7Z2L6|Q7Z2L7|Q9BUB8|Q9BW05|Q9UDG6	Nonsense_Mutation	SNP	ENST00000301729.4	37	c.775C>T	CCDS10464.1	.	.	.	.	.	.	.	.	.	.	G	40	8.364285	0.98779	.	.	ENSG00000167969	ENST00000301729	.	.	.	5.2	1.93	0.25924	.	0.058266	0.64402	D	0.000004	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-10.6503	7.7655	0.28978	0.0829:0.0:0.623:0.2941	.	.	.	.	X	259	.	ENSP00000301729:R259X	R	-	1	2	ECI1	2230115	1.000000	0.71417	0.725000	0.30721	0.816000	0.46133	2.423000	0.44705	0.757000	0.33036	0.655000	0.94253	CGA		0.557	ECI1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250768.1			14	26	0	0	0	1	0	14	26					A	2290114	G	A	2290114	4	1	305	1	0	0	0	0	0	1	0	0	4289	1095	38	1	137	1	DCI	16	2290114	Nonsense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	30551	2290114	88064639	810	15327											
ABCA3	21	broad.mit.edu	37	chr16	2336814	2336814	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	aggttgtccacgacggccagGgcagtggctggagagtggta	8	7	18	8	2	0	1	0	0	0	1	1	3	1	1	2	6	0	4	2	6	1	2	rs561806432		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr16:2336814G>A	ENST00000301732.5	-	22	3859	c.3159C>T	c.(3157-3159)gcC>gcT	p.A1053A	ABCA3_ENST00000382381.3_Silent_p.A995A	NM_001089.2	NP_001080.2	Q99758	ABCA3_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 3	1053					response to drug (GO:0042493)|transmembrane transport (GO:0055085)|transport (GO:0006810)	alveolar lamellar body (GO:0097208)|alveolar lamellar body membrane (GO:0097233)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)			breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1)	70		Ovarian(90;0.17)			Imatinib(DB00619)	CGACGGCCAGGGCAGTGGCTG	0.632																																						ENST00000301732.5																			0				breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1)	70						c.(3157-3159)gcC>gcT		ATP-binding cassette, sub-family A (ABC1), member 3							119	118	118					16																	2336814		2198	4300	6498	SO:0001819	synonymous_variant	21				response to drug	integral to membrane|lamellar body|membrane fraction|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr16:2336814G>A	U78735	CCDS10466.1	16p13.3	2012-03-14			ENSG00000167972	ENSG00000167972		"ATP binding cassette transporters / subfamily A"	33	protein-coding gene	gene with protein product		601615		ABC3		8706931	Standard	NM_001089		Approved	ABC-C, EST111653, LBM180	uc002cpy.1	Q99758	OTTHUMG00000128845	ENST00000301732.5:c.3159C>T	16.37:g.2336814G>A						ABCA3_ENST00000382381.3_Silent_p.A995A	p.A1053A	NM_001089.2	NP_001080.2	Q99758	ABCA3_HUMAN			22	3859	-		Ovarian(90;0.17)	1053					B2RU09|Q54A95|Q6P5P9|Q92473	Silent	SNP	ENST00000301732.5	37	c.3159C>T	CCDS10466.1																																																																																				0.632	ABCA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250784.2	NM_001089		5	193	0	0	0	1	0	5	193					A	2336814	G	A	2336814	2	1	305	1	0	0	0	0	0	0	0	1	33	1219	43	3		3	ABCA3	16	2336814	Silent	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	46700	2336814	88017939	811	15328											
SRRM2	23524	broad.mit.edu	37	chr16	2819185	2819187	+	In_Frame_Del	DEL	TCC	TCC	-																															cttcttcttcctcctcatctTcctcctcctcgtcgtcttcc																										TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr16:2819185_2819187delTCC	ENST00000301740.8	+	12	8470_8472	c.7921_7923delTCC	c.(7921-7923)tccdel	p.S2648del	AC092117.2_ENST00000581119.1_RNA|SRRM2_ENST00000574593.1_3'UTR	NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	2648	Ser-rich.				mRNA splicing, via spliceosome (GO:0000398)	Cajal body (GO:0015030)|catalytic step 2 spliceosome (GO:0071013)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|poly(A) RNA binding (GO:0044822)|protein N-terminus binding (GO:0047485)			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						ctcctcatcttcctcctcctcgt	0.591																																						ENST00000301740.8																			0				breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						c.(7921-7923)del		serine/arginine repetitive matrix 2																																				SO:0001651	inframe_deletion	23524					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding	g.chr16:2819185_2819187delTCC	AF201422	CCDS32373.1	16p13.3	2012-07-02			ENSG00000167978	ENSG00000167978			16639	protein-coding gene	gene with protein product		606032				10668804, 11004489	Standard	NM_016333		Approved	SRm300, SRL300, KIAA0324, Cwc21	uc002crk.3	Q9UQ35	OTTHUMG00000177358	ENST00000301740.8:c.7921_7923delTCC	16.37:g.2819191_2819193delTCC	ENSP00000301740:p.Ser2648del					SRRM2_ENST00000574593.1_3'UTR	p.S2648del	NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN			12	8470_8472	+			2648			Ser-rich.		A6NKB9|D3DU97|O15038|O94803|Q6NSL3|Q6PIM3|Q6PK40|Q8IW17|Q96GY7|Q9P0G1|Q9UHA8|Q9UQ36|Q9UQ37|Q9UQ38|Q9UQ40	In_Frame_Del	DEL	ENST00000301740.8	37	c.7921_7923delTCC	CCDS32373.1																																																																																				0.591	SRRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436411.1			27	90						27	90	---	---	---	---	-	2819187	TCC	-	2819185	7	5	305	1	0	1	0	1	0	0	0	0	15168	1783	62	0	7963	0	SRRM2	16	2819185	In_Frame_Del	DEL	TCC	TCGA-KK-A59V-01A-11D-A29Q-08	482371	2819185	87535568	812	15329											
CLDN9	9080	broad.mit.edu	37	chr16	3063895	3063895	+	Frame_Shift_Del	DEL	G	G	-																															ctgcactgcttatgctgggcGgggggctcctctgctgcacg																								rs374732646		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr16:3063895delG	ENST00000445369.2	+	1	1439	c.532delG	c.(532-534)gggfs	p.G179fs		NM_020982.3	NP_066192.1	O95484	CLD9_HUMAN	claudin 9	179					calcium-independent cell-cell adhesion (GO:0016338)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|tight junction assembly (GO:0070830)|viral process (GO:0016032)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	identical protein binding (GO:0042802)|structural molecule activity (GO:0005198)			endometrium(2)|large_intestine(1)|lung(5)|prostate(2)	10						TATGCTGGGCGGGGGGCTCCT	0.721																																						ENST00000445369.2																			0				endometrium(2)|large_intestine(1)|lung(5)|prostate(2)	10						c.(532-534)ggfs		claudin 9							16	21	19					16																	3063895		2174	4262	6436	SO:0001589	frameshift_variant	9080				calcium-independent cell-cell adhesion|tight junction assembly	integral to membrane|tight junction	identical protein binding|structural molecule activity	g.chr16:3063895delG	AJ130941	CCDS10487.1	16p13.3	2008-08-01			ENSG00000213937	ENSG00000213937		"Claudins"	2051	protein-coding gene	gene with protein product		615799				9441748, 18234789	Standard	NM_020982		Approved		uc010uwo.1	O95484	OTTHUMG00000129000	ENST00000445369.2:c.532delG	16.37:g.3063895delG	ENSP00000398017:p.Gly179fs						p.G179fs	NM_020982.3	NP_066192.1	O95484	CLD9_HUMAN			1	1439	+			179						Frame_Shift_Del	DEL	ENST00000445369.2	37	c.532delG	CCDS10487.1																																																																																				0.721	CLDN9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250989.1	NM_020982		29	74						29	74	---	---	---	---	-	3063895	G	-	3063895	7	5	305	1	0	1	0	1	0	0	0	0	3492	1116	39	0	534	0	CLDN9	16	3063895	Frame_Shift_Del	DEL	G	TCGA-KK-A59V-01A-11D-A29Q-08	244710	3063895	87290858	813	15330											
ZNF263	10127	broad.mit.edu	37	chr16	3339479	3339479	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctgcttcctgaccaggccCgaggggaggtgccctggagt	5	8	16	12	1	0	1	0	1	0	0	1	4	1	3	4	5	3	2	4	5	0	1	rs139107623		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr16:3339479C>T	ENST00000219069.5	+	6	1849	c.973C>T	c.(973-975)Cga>Tga	p.R325*	ZNF263_ENST00000574253.1_Silent_p.P158P|ZNF263_ENST00000538765.1_5'UTR	NM_005741.4	NP_005732.2	O14978	ZN263_HUMAN	zinc finger protein 263	325					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)|skin(4)|urinary_tract(3)	20						TGACCAGGCCCGAGGGGAGGT	0.597																																						ENST00000219069.5																			0				NS(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)|skin(4)|urinary_tract(3)	20						c.(973-975)Cga>Tga		zinc finger protein 263		C	stop/ARG	0,4394		0,0,2197	63	69	67		973	-5	0.4	16	dbSNP_134	67	1,8599		0,1,4299	no	stop-gained	ZNF263	NM_005741.4		0,1,6496	TT,TC,CC		0.0116,0.0,0.0077		325/684	3339479	1,12993	2197	4300	6497	SO:0001587	stop_gained	10127				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr16:3339479C>T	AC004232	CCDS10499.1	16p13.3	2013-01-09			ENSG00000006194	ENSG00000006194		"Zinc fingers, C2H2-type", "-", "-", "-"	13056	protein-coding gene	gene with protein product		604191				9256059	Standard	NM_005741		Approved	FPM315, ZKSCAN12, ZSCAN44	uc002cuq.3	O14978	OTTHUMG00000129323	ENST00000219069.5:c.973C>T	16.37:g.3339479C>T	ENSP00000219069:p.Arg325*					ZNF263_ENST00000538765.1_5'UTR|ZNF263_ENST00000574253.1_Silent_p.P158P	p.R325*	NM_005741.4	NP_005732.2	O14978	ZN263_HUMAN			6	1849	+			325					B2R634|O43387|Q96H95	Nonsense_Mutation	SNP	ENST00000219069.5	37	c.973C>T	CCDS10499.1	.	.	.	.	.	.	.	.	.	.	C	38	7.246057	0.98161	0.0	1.16E-4	ENSG00000006194	ENST00000219069	.	.	.	5.23	-4.98	0.03019	.	0.439260	0.21954	N	0.066698	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.05351	T	0.99	.	3.0573	0.06188	0.1948:0.3603:0.3294:0.1156	.	.	.	.	X	325	.	ENSP00000219069:R325X	R	+	1	2	ZNF263	3279480	0.059000	0.20769	0.418000	0.26571	0.000000	0.00434	0.140000	0.16056	-0.812000	0.04363	-2.411000	0.00221	CGA		0.597	ZNF263-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251463.2			32	96	0	0	0	1	0	32	96					T	3339479	C	T	3339479	4	4	305	1	0	0	0	0	0	1	0	0	17800	644	23	2	995	2	ZNF263	16	3339479	Nonsense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	275584	3339479	87015274	814	15331											
TFAP4	7023	broad.mit.edu	37	chr16	4312619	4312619	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgatgctctgcatgcgtctcCgctcgttgctgttggcgatc	3	14	12	12	4	2	1	0	1	2	0	5	2	2	1	1	1	4	6	1	1	0	2			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr16:4312619C>T	ENST00000204517.6	-	2	501	c.173G>A	c.(172-174)cGg>cAg	p.R58Q		NM_003223.2	NP_003214.1	Q01664	TFAP4_HUMAN	transcription factor AP-4 (activating enhancer binding protein 4)	58	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				cellular response to dexamethasone stimulus (GO:0071549)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|negative regulation by host of viral transcription (GO:0043922)|negative regulation of cell cycle arrest (GO:0071157)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of DNA binding (GO:0043392)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:2001269)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	DNA binding (GO:0003677)|E-box binding (GO:0070888)|histone deacetylase binding (GO:0042826)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|endometrium(2)|lung(8)|ovary(1)|prostate(1)|skin(1)	14						CATGCGTCTCCGCTCGTTGCT	0.622																																						ENST00000204517.6																			0				NS(1)|endometrium(2)|lung(8)|ovary(1)|prostate(1)|skin(1)	14						c.(172-174)cGg>cAg		transcription factor AP-4 (activating enhancer binding protein 4)							116	110	112					16																	4312619		2197	4300	6497	SO:0001583	missense	7023				DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|negative regulation by host of viral transcription|negative regulation of cell cycle arrest|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|negative regulation of DNA binding|negative regulation of transcription, DNA-dependent|positive regulation by host of viral transcription|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein complex assembly|regulation of S phase of mitotic cell cycle	transcriptional repressor complex	E-box binding|histone deacetylase binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity	g.chr16:4312619C>T	X57435	CCDS10510.1	16p13	2013-05-21	2001-11-28		ENSG00000090447	ENSG00000090447		"Basic helix-loop-helix proteins"	11745	protein-coding gene	gene with protein product		600743	"transcription factor AP-4 (activating enhancer-binding protein 4)"			2123466	Standard	NM_003223		Approved	AP-4, bHLHc41	uc010uxg.2	Q01664	OTTHUMG00000129435	ENST00000204517.6:c.173G>A	16.37:g.4312619C>T	ENSP00000204517:p.Arg58Gln						p.R58Q	NM_003223.2	NP_003214.1	Q01664	TFAP4_HUMAN			2	501	-			58					O60409	Missense_Mutation	SNP	ENST00000204517.6	37	c.173G>A	CCDS10510.1	.	.	.	.	.	.	.	.	.	.	C	36	5.859174	0.97036	.	.	ENSG00000090447	ENST00000204517	D	0.99382	-5.8	5.57	5.57	0.84162	Helix-loop-helix DNA-binding (5);	0.000000	0.85682	D	0.000000	D	0.99459	0.9808	M	0.87827	2.91	0.80722	D	1	D	0.71674	0.998	D	0.76575	0.988	D	0.99253	1.0888	10	0.42905	T	0.14	.	18.3242	0.90247	0.0:1.0:0.0:0.0	.	58	Q01664	TFAP4_HUMAN	Q	58	ENSP00000204517:R58Q	ENSP00000204517:R58Q	R	-	2	0	TFAP4	4252620	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.216000	0.77974	2.618000	0.88619	0.591000	0.81541	CGG		0.622	TFAP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251595.2	NM_003223		30	110	0	0	0	1	0	30	110					T	4312619	C	T	4312619	3	4	305	1	0	0	0	0	1	0	0	0	15789	652	23	2	867	2	TFAP4	16	4312619	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	973140	4312619	86042134	815	15332											
TFAP4	7023	broad.mit.edu	37	chr16	4312644	4312644	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttgctgttggcgatctcccGccgaatccgccgctcctggt	3	11	12	15	5	1	0	0	0	1	0	4	2	3	0	5	2	1	4	5	2	1	2			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr16:4312644G>A	ENST00000204517.6	-	2	476	c.148C>T	c.(148-150)Cgg>Tgg	p.R50W		NM_003223.2	NP_003214.1	Q01664	TFAP4_HUMAN	transcription factor AP-4 (activating enhancer binding protein 4)	50	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				cellular response to dexamethasone stimulus (GO:0071549)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|negative regulation by host of viral transcription (GO:0043922)|negative regulation of cell cycle arrest (GO:0071157)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of DNA binding (GO:0043392)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:2001269)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	DNA binding (GO:0003677)|E-box binding (GO:0070888)|histone deacetylase binding (GO:0042826)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|endometrium(2)|lung(8)|ovary(1)|prostate(1)|skin(1)	14						GCGATCTCCCGCCGAATCCGC	0.632																																						ENST00000204517.6																			0				NS(1)|endometrium(2)|lung(8)|ovary(1)|prostate(1)|skin(1)	14						c.(148-150)Cgg>Tgg		transcription factor AP-4 (activating enhancer binding protein 4)							92	94	93					16																	4312644		2197	4300	6497	SO:0001583	missense	7023				DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|negative regulation by host of viral transcription|negative regulation of cell cycle arrest|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|negative regulation of DNA binding|negative regulation of transcription, DNA-dependent|positive regulation by host of viral transcription|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein complex assembly|regulation of S phase of mitotic cell cycle	transcriptional repressor complex	E-box binding|histone deacetylase binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity	g.chr16:4312644G>A	X57435	CCDS10510.1	16p13	2013-05-21	2001-11-28		ENSG00000090447	ENSG00000090447		"Basic helix-loop-helix proteins"	11745	protein-coding gene	gene with protein product		600743	"transcription factor AP-4 (activating enhancer-binding protein 4)"			2123466	Standard	NM_003223		Approved	AP-4, bHLHc41	uc010uxg.2	Q01664	OTTHUMG00000129435	ENST00000204517.6:c.148C>T	16.37:g.4312644G>A	ENSP00000204517:p.Arg50Trp						p.R50W	NM_003223.2	NP_003214.1	Q01664	TFAP4_HUMAN			2	476	-			50					O60409	Missense_Mutation	SNP	ENST00000204517.6	37	c.148C>T	CCDS10510.1	.	.	.	.	.	.	.	.	.	.	G	10.84	1.464367	0.26335	.	.	ENSG00000090447	ENST00000204517	D	0.99319	-5.74	5.57	-0.745	0.11098	Helix-loop-helix DNA-binding (4);	0.000000	0.85682	D	0.000000	D	0.99579	0.9848	H	0.96777	3.88	0.54753	D	0.999987	D	0.89917	1.0	D	0.83275	0.996	D	0.98660	1.0683	10	0.87932	D	0	.	17.2457	0.87027	0.0:0.0:0.4535:0.5465	.	50	Q01664	TFAP4_HUMAN	W	50	ENSP00000204517:R50W	ENSP00000204517:R50W	R	-	1	2	TFAP4	4252645	0.988000	0.35896	0.957000	0.39632	0.502000	0.33828	0.917000	0.28665	-0.003000	0.14444	-1.378000	0.01179	CGG		0.632	TFAP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251595.2	NM_003223		35	98	0	0	0	1	0	35	98					A	4312644	G	A	4312644	3	1	305	1	0	0	0	0	1	0	0	0	15789	1086	38	1	892	1	TFAP4	16	4312644	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	25	4312644	86042109	816	15333											
NMRAL1	57407	broad.mit.edu	37	chr16	4516290	4516290	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctccacctcccctttgccGtcaaagtgcgcggcggccaa	6	8	9	18	4	1	0	1	0	0	0	4	0	4	0	7	2	2	0	7	2	2	1	rs145734906		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr16:4516290G>A	ENST00000574733.1	-	4	1122	c.393C>T	c.(391-393)gaC>gaT	p.D131D	NMRAL1_ENST00000283429.6_Silent_p.D131D|NMRAL1_ENST00000574425.1_Silent_p.D131D|NMRAL1_ENST00000572391.1_5'UTR|NMRAL1_ENST00000404295.3_Silent_p.D131D			Q9HBL8	NMRL1_HUMAN	NmrA-like family domain containing 1	131						cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|prostate(2)|stomach(1)	15						CCCCTTTGCCGTCAAAGTGCG	0.592													G|||	1	0.000199681	0	0	5008	,	,		17262	0.001		0	False		,,,				2504	0					ENST00000574733.1																			0				breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|prostate(2)|stomach(1)	15						c.(391-393)gaC>gaT		NmrA-like family domain containing 1		G		0,4394		0,0,2197	66	63	64		393	-5	0.9	16	dbSNP_134	64	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	NMRAL1	NM_020677.3		0,1,6496	AA,AG,GG		0.0116,0.0,0.0077		131/300	4516290	1,12993	2197	4300	6497	SO:0001819	synonymous_variant	57407					nucleus|perinuclear region of cytoplasm	binding	g.chr16:4516290G>A	AF225419	CCDS10516.1	16p13.3	2013-10-11			ENSG00000153406	ENSG00000153406		"Short chain dehydrogenase/reductase superfamily / Atypical members"	24987	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 48A, member 1"					19027726	Standard	NM_020677		Approved	FLJ25918, HSCARG, SDR48A1	uc002cwo.3	Q9HBL8	OTTHUMG00000129468	ENST00000574733.1:c.393C>T	16.37:g.4516290G>A						NMRAL1_ENST00000572391.1_5'UTR|NMRAL1_ENST00000283429.6_Silent_p.D131D|NMRAL1_ENST00000574425.1_Silent_p.D131D|NMRAL1_ENST00000404295.3_Silent_p.D131D	p.D131D			Q9HBL8	NMRL1_HUMAN			4	1122	-			131						Silent	SNP	ENST00000574733.1	37	c.393C>T	CCDS10516.1																																																																																				0.592	NMRAL1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438579.1	NM_020677		13	39	0	0	0	1	0	13	39					A	4516290	G	A	4516290	2	1	305	1	0	0	0	0	0	0	0	1	10501	1136	40	1		1	NMRAL1	16	4516290	Silent	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	203646	4516290	85838463	817	15334											
SEPT12	124404	broad.mit.edu	37	chr16	4828125	4828125	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aggagaggaaattcacagtgCgccatgttctccactgcaag	12	8	11	10	1	2	1	1	0	1	1	3	3	2	2	2	2	2	2	2	2	2	2	rs148619854		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr16:4828125C>T	ENST00000268231.8	-	9	1100	c.837G>A	c.(835-837)gcG>gcA	p.A279A	SEPT12_ENST00000396693.5_Silent_p.A233A	NM_144605.4	NP_653206.2	Q8IYM1	SEP12_HUMAN	septin 12	279	Septin-type G.				cell cycle (GO:0007049)|cell division (GO:0051301)	cleavage furrow (GO:0032154)|microtubule cytoskeleton (GO:0015630)|midbody (GO:0030496)|perinuclear region of cytoplasm (GO:0048471)|septin complex (GO:0031105)|sperm annulus (GO:0097227)|spindle (GO:0005819)|stress fiber (GO:0001725)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|phosphatidylinositol binding (GO:0035091)|protein homodimerization activity (GO:0042803)	p.A279A(1)		NS(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|skin(2)|stomach(3)	23						ATTCACAGTGCGCCATGTTCT	0.587																																						ENST00000268231.8																			1	Substitution - coding silent(1)	p.A279A(1)	endometrium(1)	NS(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|skin(2)|stomach(3)	23						c.(835-837)gcG>gcA		septin 12		C	,	1,4393	2.1+/-5.4	0,1,2196	82	74	77		699,837	-6.8	0.8	16	dbSNP_134	77	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	SEPT12	NM_001154458.2,NM_144605.4	,	0,1,6496	TT,TC,CC		0.0,0.0228,0.0077	,	233/313,279/359	4828125	1,12993	2197	4300	6497	SO:0001819	synonymous_variant	124404				cell cycle|cell division	cleavage furrow|midbody|perinuclear region of cytoplasm|septin complex|spindle|stress fiber	GDP binding|GTP binding|phosphatidylinositol binding|protein homodimerization activity	g.chr16:4828125C>T	AK058139	CCDS10522.1, CCDS53987.1	16p13.3	2013-01-21			ENSG00000140623	ENSG00000140623		"Septins"	26348	protein-coding gene	gene with protein product		611562				14611653, 15915442	Standard	NM_001154458		Approved	FLJ25410	uc002cxq.3	Q8IYM1	OTTHUMG00000129481	ENST00000268231.8:c.837G>A	16.37:g.4828125C>T						SEPT12_ENST00000396693.5_Silent_p.A233A	p.A279A	NM_144605.4	NP_653206.2	Q8IYM1	SEP12_HUMAN			9	1100	-			279					Q0P6B0|Q1PBH0|Q96LL0	Silent	SNP	ENST00000268231.8	37	c.837G>A	CCDS10522.1																																																																																				0.587	SEPT12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251645.2	NM_144605		10	20	0	0	0	1	0	10	20					T	4828125	C	T	4828125	2	4	305	1	0	0	0	0	0	0	0	1	14062	755	27	1		1	SEPT12	16	4828125	Silent	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	311835	4828125	85526628	818	15335											
PPL	5493	broad.mit.edu	37	chr16	4934404	4934404	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgcaaccgctgtacctcgcGctcggcctccctgcgggcct	3	8	11	19	5	0	0	0	0	0	0	3	0	1	0	5	2	4	4	5	2	2	1			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr16:4934404G>A	ENST00000345988.2	-	22	4341	c.4252C>T	c.(4252-4254)Cgc>Tgc	p.R1418C	PPL_ENST00000590782.2_Missense_Mutation_p.R1416C	NM_002705.4	NP_002696	O60437	PEPL_HUMAN	periplakin	1418					keratinization (GO:0031424)	cell junction (GO:0030054)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)			breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2)	62						TGTACCTCGCGCTCGGCCTCC	0.701																																						ENST00000345988.2																			0				breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2)	62						c.(4252-4254)Cgc>Tgc		periplakin							33	36	35					16																	4934404		2099	4193	6292	SO:0001583	missense	5493				keratinization	cytoskeleton|desmosome|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton	g.chr16:4934404G>A	AF013717	CCDS10526.1	16p13.3	2008-02-05			ENSG00000118898	ENSG00000118898			9273	protein-coding gene	gene with protein product		602871				9570964, 9521878	Standard	NM_002705		Approved		uc002cyd.1	O60437	OTTHUMG00000129528	ENST00000345988.2:c.4252C>T	16.37:g.4934404G>A	ENSP00000340510:p.Arg1418Cys					PPL_ENST00000590782.2_Missense_Mutation_p.R1416C	p.R1418C	NM_002705.4	NP_002696.3	O60437	PEPL_HUMAN			22	4341	-			1418					O60314|O60454|Q14C98	Missense_Mutation	SNP	ENST00000345988.2	37	c.4252C>T	CCDS10526.1	.	.	.	.	.	.	.	.	.	.	G	14.46	2.543465	0.45280	.	.	ENSG00000118898	ENST00000345988	T	0.41758	0.99	5.44	5.44	0.79542	.	0.251074	0.33515	N	0.004830	T	0.26774	0.0655	N	0.08118	0	0.36987	D	0.894612	P	0.47762	0.9	B	0.37650	0.255	T	0.40869	-0.9540	10	0.72032	D	0.01	.	19.247	0.93906	0.0:0.0:1.0:0.0	.	1418	O60437	PEPL_HUMAN	C	1418	ENSP00000340510:R1418C	ENSP00000340510:R1418C	R	-	1	0	PPL	4874405	1.000000	0.71417	1.000000	0.80357	0.812000	0.45895	4.678000	0.61641	2.564000	0.86499	0.591000	0.81541	CGC		0.701	PPL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251715.1	NM_002705		24	86	0	0	0	1	0	24	86					A	4934404	G	A	4934404	3	1	305	1	0	0	0	0	1	0	0	0	12334	1087	38	1	1022	1	PPL	16	4934404	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	106279	4934404	85420349	819	15336											
SEC14L5	9717	broad.mit.edu	37	chr16	5041923	5041923	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gctggacgcctgccccagtcCgtgaggaggatgcccgcaac	7	5	14	15	3	0	1	0	1	0	0	1	4	1	4	5	3	3	2	5	3	1	0			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr16:5041923C>T	ENST00000251170.7	+	6	739	c.559C>T	c.(559-561)Cgt>Tgt	p.R187C		NM_014692.1	NP_055507.1	O43304	S14L5_HUMAN	SEC14-like 5 (S. cerevisiae)	187						integral component of membrane (GO:0016021)|intracellular (GO:0005622)	transporter activity (GO:0005215)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|skin(1)	29						TGCCCCAGTCCGTGAGGAGGA	0.667																																						ENST00000251170.7																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|skin(1)	29						c.(559-561)Cgt>Tgt		SEC14-like 5 (S. cerevisiae)							33	34	34					16																	5041923		2034	4171	6205	SO:0001583	missense	9717					integral to membrane|intracellular	transporter activity	g.chr16:5041923C>T	AB007880	CCDS45403.1	16p13.3	2008-02-05				ENSG00000103184			29032	protein-coding gene	gene with protein product						9455477	Standard	NM_014692		Approved	KIAA0420, PRELID4B	uc002cye.2	O43304		ENST00000251170.7:c.559C>T	16.37:g.5041923C>T	ENSP00000251170:p.Arg187Cys						p.R187C	NM_014692.1	NP_055507.1	O43304	S14L5_HUMAN			6	739	+			187						Missense_Mutation	SNP	ENST00000251170.7	37	c.559C>T	CCDS45403.1	.	.	.	.	.	.	.	.	.	.	C	8.226	0.803590	0.16467	.	.	ENSG00000103184	ENST00000251170	T	0.70749	-0.51	4.3	-0.519	0.11939	.	0.757705	0.11517	N	0.556086	T	0.57213	0.2038	L	0.46157	1.445	0.09310	N	1	B	0.09022	0.002	B	0.01281	0.0	T	0.50145	-0.8862	10	0.54805	T	0.06	-16.18	3.7217	0.08459	0.2507:0.4367:0.0:0.3126	.	187	O43304	S14L5_HUMAN	C	187	ENSP00000251170:R187C	ENSP00000251170:R187C	R	+	1	0	SEC14L5	4981924	0.000000	0.05858	0.070000	0.20053	0.353000	0.29299	-0.599000	0.05700	0.102000	0.17638	0.650000	0.86243	CGT		0.667	SEC14L5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434379.1			9	8	0	0	0	1	0	9	8					T	5041923	C	T	5041923	3	4	305	1	0	0	0	0	1	0	0	0	13985	652	23	2	577	2	SEC14L5	16	5041923	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	107519	5041923	85312830	820	15337											
XYLT1	64131	broad.mit.edu	37	chr16	17252746	17252746	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcggtatcgggagagaaacGccaccaactggtcatttgtc	10	9	11	11	3	1	1	1	0	0	1	4	3	1	2	2	3	2	1	2	3	3	2	rs192917273	byFrequency	TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr16:17252746G>A	ENST00000261381.6	-	6	1394	c.1310C>T	c.(1309-1311)gCg>gTg	p.A437V		NM_022166.3	NP_071449.1	Q86Y38	XYLT1_HUMAN	xylosyltransferase I	437					cellular response to heat (GO:0034605)|chondroitin sulfate biosynthetic process (GO:0030206)|glycosaminoglycan biosynthetic process (GO:0006024)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)	endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	acetylglucosaminyltransferase activity (GO:0008375)|protein xylosyltransferase activity (GO:0030158)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						GGAGAGAAACGCCACCAACTG	0.488													G|||	2	0.000399361	0	0	5008	,	,		20700	0.002		0	False		,,,				2504	0					ENST00000261381.6																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						c.(1309-1311)gCg>gTg		xylosyltransferase I							95	89	91					16																	17252746		2197	4300	6497	SO:0001583	missense	64131				glycosaminoglycan biosynthetic process	endoplasmic reticulum membrane|extracellular region|Golgi membrane|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity	g.chr16:17252746G>A	AJ277441	CCDS10569.1	16p12	2013-02-25			ENSG00000103489	ENSG00000103489	2.4.2.26	"Glucosaminyl (N-acetyl) transferase and xylosyltransferase family"	15516	protein-coding gene	gene with protein product	"protein xylosyltransferase 1"	608124				11099377	Standard	NM_022166		Approved	XT-I, PXYLT1	uc002dfa.3	Q86Y38	OTTHUMG00000129975	ENST00000261381.6:c.1310C>T	16.37:g.17252746G>A	ENSP00000261381:p.Ala437Val						p.A437V	NM_022166.3	NP_071449.1	Q86Y38	XYLT1_HUMAN			6	1394	-			437					Q9H1B6	Missense_Mutation	SNP	ENST00000261381.6	37	c.1310C>T	CCDS10569.1	2	9.157509157509158E-4	0	0.0	0	0.0	2	0.0034965034965034965	0	0.0	G	29.8	5.033070	0.93575	.	.	ENSG00000103489	ENST00000261381	T	0.11930	2.73	4.9	4.9	0.64082	.	0.000000	0.85682	D	0.000000	T	0.31451	0.0797	L	0.52206	1.635	0.80722	D	1	D	0.89917	1.0	D	0.75020	0.985	T	0.01030	-1.1475	10	0.33141	T	0.24	-15.6108	17.4172	0.87504	0.0:0.0:1.0:0.0	.	437	Q86Y38	XYLT1_HUMAN	V	437	ENSP00000261381:A437V	ENSP00000261381:A437V	A	-	2	0	XYLT1	17160247	1.000000	0.71417	0.991000	0.47740	0.993000	0.82548	6.857000	0.75455	2.398000	0.81561	0.563000	0.77884	GCG		0.488	XYLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252241.2	NM_022166		32	45	0	0	0	1	0	32	45					A	17252746	G	A	17252746	3	1	305	1	0	0	0	0	1	0	0	0	17460	1087	38	1	1597	1	XYLT1	16	17252746	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	12210823	17252746	73102007	821	15338											
TMC5	79838	broad.mit.edu	37	chr16	19488820	19488820	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttactattggctcaacaccGtggccctgtctggtgaagag	8	11	12	10	1	2	2	1	1	1	1	2	2	2	2	2	3	2	2	2	3	4	3			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr16:19488820G>A	ENST00000396229.2	+	13	2898	c.2149G>A	c.(2149-2151)Gtg>Atg	p.V717M	TMC5_ENST00000541464.1_Missense_Mutation_p.V665M|TMC5_ENST00000564959.1_Missense_Mutation_p.V400M|TMC5_ENST00000561503.1_Missense_Mutation_p.V358M|CTA-363E6.6_ENST00000561762.1_RNA|TMC5_ENST00000542583.2_Missense_Mutation_p.V717M|TMC5_ENST00000219821.5_Missense_Mutation_p.V471M|TMC5_ENST00000381414.4_Missense_Mutation_p.V717M	NM_001105248.1	NP_001098718.1	Q6UXY8	TMC5_HUMAN	transmembrane channel-like 5	717					ion transport (GO:0006811)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						GCTCAACACCGTGGCCCTGTC	0.413																																						ENST00000396229.2																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						c.(2149-2151)Gtg>Atg		transmembrane channel-like 5							266	243	251					16																	19488820		2197	4300	6497	SO:0001583	missense	79838					integral to membrane		g.chr16:19488820G>A	AY263164	CCDS10577.1, CCDS42126.1, CCDS45431.1	16p13.11	2008-02-05			ENSG00000103534	ENSG00000103534			22999	protein-coding gene	gene with protein product						12812529, 12906855	Standard	NM_024780		Approved	FLJ13593	uc010var.2	Q6UXY8	OTTHUMG00000131458	ENST00000396229.2:c.2149G>A	16.37:g.19488820G>A	ENSP00000379531:p.Val717Met					TMC5_ENST00000541464.1_Missense_Mutation_p.V665M|TMC5_ENST00000564959.1_Missense_Mutation_p.V400M|TMC5_ENST00000219821.5_Missense_Mutation_p.V471M|CTA-363E6.6_ENST00000561762.1_RNA|TMC5_ENST00000561503.1_Missense_Mutation_p.V358M|TMC5_ENST00000542583.2_Missense_Mutation_p.V717M|TMC5_ENST00000381414.4_Missense_Mutation_p.V717M	p.V717M	NM_001105248.1	NP_001098718.1	Q6UXY8	TMC5_HUMAN			13	2898	+			717					Q68DK8|Q8IY20|Q8NHV6|Q9H8I7	Missense_Mutation	SNP	ENST00000396229.2	37	c.2149G>A	CCDS45431.1	.	.	.	.	.	.	.	.	.	.	G	18.43	3.622811	0.66787	.	.	ENSG00000103534	ENST00000541464;ENST00000381414;ENST00000396229;ENST00000542583;ENST00000219821;ENST00000440743	T;T;T;T;T	0.71934	-0.33;-0.27;-0.48;-0.48;-0.61	4.33	4.33	0.51752	.	.	.	.	.	D	0.83991	0.5374	M	0.78049	2.395	0.44880	D	0.997895	D;D;D;D;D;D	0.89917	1.0;0.999;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	1.0;0.943;1.0;0.999;0.999;1.0	D	0.86183	0.1607	9	0.56958	D	0.05	-16.2195	16.7528	0.85490	0.0:0.0:1.0:0.0	.	665;400;471;471;717;717	F5GYU8;E7EU57;Q6UXY8-3;B3KUQ8;Q6UXY8;Q6UXY8-2	.;.;.;.;TMC5_HUMAN;.	M	665;717;717;717;471;400	ENSP00000441227:V665M;ENSP00000370822:V717M;ENSP00000379531:V717M;ENSP00000446274:V717M;ENSP00000219821:V471M	ENSP00000219821:V471M	V	+	1	0	TMC5	19396321	1.000000	0.71417	0.830000	0.32933	0.601000	0.36947	5.430000	0.66501	2.112000	0.64535	0.655000	0.94253	GTG		0.413	TMC5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435888.1	NM_024780		31	64	0	0	0	1	0	31	64					A	19488820	G	A	19488820	3	1	305	1	0	0	0	0	1	0	0	0	15985	1145	40	1	2505	1	TMC5	16	19488820	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	2236074	19488820	70865933	822	15339											
ACSM5	54988	broad.mit.edu	37	chr16	20429586	20429586	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggtcagtgtggcttgcatgcGgacaggtcagtaagcagggc	8	8	17	8	1	2	0	2	0	0	0	2	1	2	1	0	5	3	4	0	5	1	2	rs142598719	byFrequency	TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr16:20429586G>A	ENST00000331849.4	+	3	557	c.410G>A	c.(409-411)cGg>cAg	p.R137Q	ACSM5_ENST00000575584.1_Missense_Mutation_p.R137Q	NM_017888.2	NP_060358.2	Q6NUN0	ACSM5_HUMAN	acyl-CoA synthetase medium-chain family member 5	137					fatty acid metabolic process (GO:0006631)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|GTP binding (GO:0005525)|metal ion binding (GO:0046872)	p.R137Q(1)		breast(1)|endometrium(6)|kidney(2)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1)	51						GCTTGCATGCGGACAGGTCAG	0.567													G|||	2	0.000399361	8e-04	0	5008	,	,		12829	0		0	False		,,,				2504	0.001					ENST00000331849.4																			1	Substitution - Missense(1)	p.R137Q(1)	endometrium(1)	breast(1)|endometrium(6)|kidney(2)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1)	51						c.(409-411)cGg>cAg		acyl-CoA synthetase medium-chain family member 5							45	38	40					16																	20429586		2203	4300	6503	SO:0001583	missense	54988				fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding	g.chr16:20429586G>A		CCDS10585.1	16p12.3	2007-10-17			ENSG00000183549	ENSG00000183549		"Acyl-CoA synthetase family"	26060	protein-coding gene	gene with protein product		614361				17762044	Standard	NM_017888		Approved	FLJ20581	uc002dhe.3	Q6NUN0	OTTHUMG00000131551	ENST00000331849.4:c.410G>A	16.37:g.20429586G>A	ENSP00000327916:p.Arg137Gln					ACSM5_ENST00000575584.1_Missense_Mutation_p.R137Q	p.R137Q	NM_017888.2	NP_060358.2	Q6NUN0	ACSM5_HUMAN			3	557	+			137					Q96AV1|Q96CX8|Q9NWV3	Missense_Mutation	SNP	ENST00000331849.4	37	c.410G>A	CCDS10585.1	.	.	.	.	.	.	.	.	.	.	G	28.1	4.891634	0.91889	.	.	ENSG00000183549	ENST00000331849	T	0.44881	0.91	4.56	4.56	0.56223	AMP-dependent synthetase/ligase (1);	0.000000	0.53938	D	0.000048	T	0.68054	0.2959	M	0.83312	2.635	0.41501	D	0.988286	D	0.89917	1.0	D	0.97110	1.0	T	0.75036	-0.3459	10	0.87932	D	0	-25.7928	17.2067	0.86920	0.0:0.0:1.0:0.0	.	137	Q6NUN0	ACSM5_HUMAN	Q	137	ENSP00000327916:R137Q	ENSP00000327916:R137Q	R	+	2	0	ACSM5	20337087	1.000000	0.71417	0.997000	0.53966	0.813000	0.45954	7.871000	0.87180	2.369000	0.80426	0.650000	0.86243	CGG		0.567	ACSM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254413.1	NM_017888		12	18	0	0	0	1	0	12	18					A	20429586	G	A	20429586	3	1	305	1	0	0	0	0	1	0	0	0	187	1116	39	2	416	2	ACSM5	16	20429586	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	940766	20429586	69925167	823	15340											
DNAH3	55567	broad.mit.edu	37	chr16	21156620	21156620	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atcaaggagtagttgttggcGatggaatcactgggtccacg	10	10	14	7	2	2	0	2	0	0	0	3	3	3	2	1	4	0	3	1	4	3	3			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr16:21156620G>A	ENST00000261383.3	-	3	329	c.330C>T	c.(328-330)atC>atT	p.I110I	DNAH3_ENST00000415178.1_Silent_p.I110I|DNAH3_ENST00000575491.1_5'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	110	Stem. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		AGTTGTTGGCGATGGAATCAC	0.557																																						ENST00000261383.3																			0				NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202						c.(328-330)atC>atT		dynein, axonemal, heavy chain 3							177	127	144					16																	21156620		2201	4300	6501	SO:0001819	synonymous_variant	55567				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr16:21156620G>A	U83574	CCDS10594.1	16p12.2	2008-08-01	2006-09-04		ENSG00000158486	ENSG00000158486		"Axonemal dyneins"	2949	protein-coding gene	gene with protein product		603334	"dynein, axonemal, heavy polypeptide 3"			9256245, 9373155	Standard	NM_017539		Approved	Dnahc3b, DLP3, Hsadhc3, DKFZp434N074	uc010vbe.2	Q8TD57	OTTHUMG00000090677	ENST00000261383.3:c.330C>T	16.37:g.21156620G>A						DNAH3_ENST00000575491.1_5'UTR|DNAH3_ENST00000415178.1_Silent_p.I110I	p.I110I	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN		GBM - Glioblastoma multiforme(48;0.207)	3	329	-			110			Stem (By similarity).		O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Silent	SNP	ENST00000261383.3	37	c.330C>T	CCDS10594.1																																																																																				0.557	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207361.1	NM_017539		3	46	0	0	0	1	0	3	46					A	21156620	G	A	21156620	2	1	305	1	0	0	0	0	0	0	0	1	4603	1048	37	2		2	DNAH3	16	21156620	Silent	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	727034	21156620	69198133	824	15341											
USP31	57478	broad.mit.edu	37	chr16	23080212	23080212	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atctgctttgctgcgggagcGggagggctttagagagactt	7	11	16	7	2	1	2	0	0	1	2	1	5	1	4	0	3	4	3	0	3	1	4			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr16:23080212G>A	ENST00000219689.7	-	16	3213	c.3214C>T	c.(3214-3216)Cgc>Tgc	p.R1072C	USP31_ENST00000567975.1_Missense_Mutation_p.R365C	NM_020718.3	NP_065769.3	Q86UV5	UBP48_HUMAN	ubiquitin specific peptidase 31	0					ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ubiquitin-specific protease activity (GO:0004843)			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	57				GBM - Glioblastoma multiforme(48;0.0187)		CTGCGGGAGCGGGAGGGCTTT	0.557																																						ENST00000219689.7																			0				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	57						c.(3214-3216)Cgc>Tgc		ubiquitin specific peptidase 31							59	65	63					16																	23080212		2197	4300	6497	SO:0001583	missense	57478				ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr16:23080212G>A	AB033029	CCDS10607.1	16p12.3	2008-02-05	2005-08-08		ENSG00000103404	ENSG00000103404		"Ubiquitin-specific peptidases"	20060	protein-coding gene	gene with protein product			"ubiquitin specific protease 31"			12838346	Standard	NM_020718		Approved	KIAA1203	uc002dll.3	Q70CQ4	OTTHUMG00000094793	ENST00000219689.7:c.3214C>T	16.37:g.23080212G>A	ENSP00000219689:p.Arg1072Cys					USP31_ENST00000567975.1_Missense_Mutation_p.R365C	p.R1072C	NM_020718.3	NP_065769.3	Q70CQ4	UBP31_HUMAN		GBM - Glioblastoma multiforme(48;0.0187)	16	3213	-			1072			Ser-rich.		B7ZKS7|Q2M3I4|Q5SZI4|Q5T3T5|Q6NX53|Q8N3F6|Q96F64|Q96IQ3|Q9H5N3|Q9H5T7|Q9NUJ6|Q9NXR0	Missense_Mutation	SNP	ENST00000219689.7	37	c.3214C>T	CCDS10607.1	.	.	.	.	.	.	.	.	.	.	G	16.21	3.060109	0.55432	.	.	ENSG00000103404	ENST00000219689;ENST00000381162	T	0.08634	3.07	5.25	4.3	0.51218	.	3.180680	0.00997	N	0.003619	T	0.09598	0.0236	L	0.32530	0.975	0.51012	D	0.999903	B;B;B	0.29037	0.231;0.033;0.231	B;B;B	0.22601	0.04;0.005;0.04	T	0.25363	-1.0134	10	0.87932	D	0	-17.5167	8.1286	0.31014	0.0791:0.0:0.7647:0.1562	.	375;1072;365	Q70CQ4-2;Q70CQ4;B3KS48	.;UBP31_HUMAN;.	C	1072;375	ENSP00000219689:R1072C	ENSP00000219689:R1072C	R	-	1	0	USP31	22987713	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	3.248000	0.51430	1.458000	0.47871	0.557000	0.71058	CGC		0.557	USP31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211607.1	NM_020718		30	90	0	0	0	1	0	30	90					A	23080212	G	A	23080212	3	1	305	1	0	0	0	0	1	0	0	0	17059	1116	39	2	848	2	USP31	16	23080212	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	1923592	23080212	67274541	825	15342											
ERN2	10595	broad.mit.edu	37	chr16	23707241	23707241	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acgaaagtcccgcctgccccGcggcccagcacgtccttggg	6	5	12	18	5	0	0	0	0	0	0	2	1	2	0	6	2	2	1	6	2	1	1	rs571051287		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr16:23707241G>A	ENST00000457008.2	-	13	1466	c.1428C>T	c.(1426-1428)cgC>cgT	p.R476R	ERN2_ENST00000256797.4_Silent_p.R576R					endoplasmic reticulum to nucleus signaling 2											large_intestine(2)|lung(2)|ovary(2)	6				GBM - Glioblastoma multiforme(48;0.0156)		CGCCTGCCCCGCGGCCCAGCA	0.637													G|||	1	0.000199681	0	0	5008	,	,		15985	0		0	False		,,,				2504	0.001					ENST00000256797.4																			0				large_intestine(2)|lung(2)|ovary(2)	6						c.(1726-1728)cgC>cgT		endoplasmic reticulum to nucleus signaling 2							40	39	39					16																	23707241		2197	4300	6497	SO:0001819	synonymous_variant	10595				apoptosis|induction of apoptosis|mRNA processing|negative regulation of transcription, DNA-dependent|rRNA catabolic process|transcription, DNA-dependent	endoplasmic reticulum membrane|integral to membrane	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein serine/threonine kinase activity	g.chr16:23707241G>A	AA527544	CCDS32407.1	16p12.2	2008-02-05	2007-08-14			ENSG00000134398			16942	protein-coding gene	gene with protein product		604034	"ER to nucleus signalling 2"			9755171, 11175748	Standard	NM_033266		Approved	IRE1b	uc002dma.4	Q76MJ5		ENST00000457008.2:c.1428C>T	16.37:g.23707241G>A						ERN2_ENST00000457008.2_Silent_p.R476R	p.R576R	NM_033266.3	NP_150296.3	Q76MJ5	ERN2_HUMAN		GBM - Glioblastoma multiforme(48;0.0156)	14	1896	-			528			Protein kinase.			Silent	SNP	ENST00000457008.2	37	c.1728C>T																																																																																					0.637	ERN2-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000434886.1			8	24	0	0	0	1	0	8	24					A	23707241	G	A	23707241	2	1	305	1	0	0	0	0	0	0	0	1	5238	1074	38	1		1	ERN2	16	23707241	Silent	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	627029	23707241	66647512	826	15343											
CACNG3	10368	broad.mit.edu	37	chr16	24372743	24372744	+	Frame_Shift_Ins	INS	-	-	A																															accccgggcagcgtgactccINSaaaaaaagttactcctatgg																										TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr16:24372743_24372744insA	ENST00000005284.3	+	4	1709_1710	c.507_508insA	c.(508-510)aaafs	p.K170fs		NM_006539.3	NP_006530.1	O60359	CCG3_HUMAN	calcium channel, voltage-dependent, gamma subunit 3	170					calcium ion transport (GO:0006816)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|synaptic transmission (GO:0007268)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|endocytic vesicle membrane (GO:0030666)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)			NS(2)|breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|prostate(4)|skin(2)	40				GBM - Glioblastoma multiforme(48;0.0809)		AGCGTGACTCCAAAAAAAGTTA	0.441																																						ENST00000005284.3																			0				NS(2)|breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|prostate(4)|skin(2)	40						c.(505-510)tcaaaafs		calcium channel, voltage-dependent, gamma subunit 3																																				SO:0001589	frameshift_variant	10368				regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane|voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr16:24372743_24372744insA	AF131911	CCDS10620.1	16p12.1	2008-05-14			ENSG00000006116	ENSG00000006116		"Calcium channel subunits"	1407	protein-coding gene	gene with protein product		606403				10221464, 10493829	Standard	NM_006539		Approved		uc002dmf.3	O60359	OTTHUMG00000131651	ENST00000005284.3:c.514dupA	16.37:g.24372750_24372750dupA	ENSP00000005284:p.Lys170fs						p.SK169fs	NM_006539.3	NP_006530.1	O60359	CCG3_HUMAN		GBM - Glioblastoma multiforme(48;0.0809)	4	1709_1710	+			169						Frame_Shift_Ins	INS	ENST00000005284.3	37	c.507_508insA	CCDS10620.1																																																																																				0.441	CACNG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254548.1	NM_006539		10	196						10	196	---	---	---	---	A	24372744	-	A	24372743	7	5	305	1	0	1	1	0	0	0	0	0	2558	581	21	0	521	0	CACNG3	16	24372743	Frame_Shift_Ins	INS	-	TCGA-KK-A59V-01A-11D-A29Q-08	665502	24372743	65982010	827	15344											
RBBP6	5930	broad.mit.edu	37	chr16	24574974	24574974	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtccaggtggtggtcgaccAggctgggaacagtgagtaga	9	7	17	8	2	0	2	0	1	0	1	2	4	1	3	2	5	1	2	2	5	2	1			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr16:24574974A>G	ENST00000319715.4	+	13	1941	c.1509A>G	c.(1507-1509)ccA>ccG	p.P503P	RBBP6_ENST00000348022.2_Silent_p.P503P|RBBP6_ENST00000381039.3_Intron	NM_006910.4	NP_008841.2	Q7Z6E9	RBBP6_HUMAN	retinoblastoma binding protein 6	503					embryonic organ development (GO:0048568)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|somite development (GO:0061053)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(1)	46				GBM - Glioblastoma multiforme(48;0.0518)		GTGGTCGACCAGGCTGGGAAC	0.383																																						ENST00000319715.4																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(1)	46						c.(1507-1509)ccA>ccG		retinoblastoma binding protein 6							102	102	102					16																	24574974		2197	4300	6497	SO:0001819	synonymous_variant	5930				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	chromosome|nucleolus|ubiquitin ligase complex	nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr16:24574974A>G		CCDS10621.1, CCDS10622.1, CCDS45444.1	16p12.2	2008-08-04	2001-11-28		ENSG00000122257	ENSG00000122257			9889	protein-coding gene	gene with protein product	"proliferation potential-related protein"	600938	"retinoblastoma-binding protein 6"			8595913, 16396680	Standard	NM_006910		Approved	P2P-R, PACT, SNAMA	uc002dmh.3	Q7Z6E9	OTTHUMG00000096991	ENST00000319715.4:c.1509A>G	16.37:g.24574974A>G						RBBP6_ENST00000381039.3_Intron|RBBP6_ENST00000348022.2_Silent_p.P503P	p.P503P	NM_006910.4	NP_008841.2	Q7Z6E9	RBBP6_HUMAN		GBM - Glioblastoma multiforme(48;0.0518)	13	1941	+			503					Q147T5|Q15290|Q6DKH4|Q6P4C2|Q6YNC9|Q7Z6E8|Q8N0V2|Q96PH3|Q9H3I8|Q9H5M5|Q9NPX4	Silent	SNP	ENST00000319715.4	37	c.1509A>G	CCDS10621.1																																																																																				0.383	RBBP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214067.2	NM_006910		10	34	0	0	0	1	0	10	34					G	24574974	A	G	24574974	2	3	305	1	0	0	0	0	0	0	0	1	13103	175	7	4		4	RBBP6	16	24574974	Silent	SNP	A	TCGA-KK-A59V-01A-11D-A29Q-08	202231	24574974	65779779	828	15345											
ZKSCAN2	342357	broad.mit.edu	37	chr16	25268328	25268328	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcatttgcggaaggtctcagAgctatccgatccttccagaa	10	10	10	11	2	1	2	1	0	1	2	5	4	4	3	3	2	2	2	3	2	3	3			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr16:25268328A>G	ENST00000328086.7	-	1	924	c.121T>C	c.(121-123)Tct>Cct	p.S41P		NM_001012981.4	NP_001012999.3	Q63HK3	ZKSC2_HUMAN	zinc finger with KRAB and SCAN domains 2	41					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	36				GBM - Glioblastoma multiforme(48;0.0378)		AAGGTCTCAGAGCTATCCGAT	0.522											OREG0023690	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000328086.7																			0				breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	36						c.(121-123)Tct>Cct		zinc finger with KRAB and SCAN domains 2							63	68	67					16																	25268328		2197	4300	6497	SO:0001583	missense	342357				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr16:25268328A>G	AK026852	CCDS32410.1	16p12.1	2013-01-09	2007-02-20	2007-02-20		ENSG00000155592		"Zinc fingers, C2H2-type", "-", "-", "-"	25677	protein-coding gene	gene with protein product			"zinc finger protein 694"	ZNF694			Standard	NM_001012981		Approved	FLJ23199, ZSCAN34	uc002dod.4	Q63HK3		ENST00000328086.7:c.121T>C	16.37:g.25268328A>G	ENSP00000331626:p.Ser41Pro		OREG0023690	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	777		p.S41P	NM_001012981.4	NP_001012999.3	Q63HK3	ZKSC2_HUMAN		GBM - Glioblastoma multiforme(48;0.0378)	1	924	-			41					A1L3B4|Q6ZN77	Missense_Mutation	SNP	ENST00000328086.7	37	c.121T>C	CCDS32410.1	.	.	.	.	.	.	.	.	.	.	A	15.38	2.815202	0.50527	.	.	ENSG00000155592	ENST00000328086;ENST00000536768	T	0.04917	3.53	5.19	2.87	0.33458	Retrovirus capsid, C-terminal (1);Transcription regulator SCAN (2);	0.307026	0.28635	N	0.014652	T	0.04363	0.0120	N	0.17594	0.5	0.09310	N	1	B;P	0.42123	0.073;0.771	B;B	0.42319	0.121;0.383	T	0.41142	-0.9525	10	0.24483	T	0.36	-4.1342	7.4873	0.27441	0.5685:0.0:0.0:0.4315	.	41;41	Q63HK3-2;Q63HK3	.;ZKSC2_HUMAN	P	41	ENSP00000331626:S41P	ENSP00000331626:S41P	S	-	1	0	ZKSCAN2	25175829	0.022000	0.18835	0.098000	0.21074	0.250000	0.25880	0.179000	0.16840	0.381000	0.24851	0.528000	0.53228	TCT		0.522	ZKSCAN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435739.1	NM_001012981		35	57	0	0	0	1	0	35	57					G	25268328	A	G	25268328	3	3	305	1	0	0	0	0	1	0	0	0	17684	304	11	4	2810	4	ZKSCAN2	16	25268328	Missense_Mutation	SNP	A	TCGA-KK-A59V-01A-11D-A29Q-08	693354	25268328	65086425	829	15346											
ATXN2L	11273	broad.mit.edu	37	chr16	28843606	28843606	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctgtccagagcctcccatcGgctcggcagtgccaacctct	6	8	9	18	2	1	1	0	0	1	1	5	1	3	1	6	2	3	2	6	2	1	0	rs150073438		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr16:28843606G>A	ENST00000336783.4	+	11	1569	c.1402G>A	c.(1402-1404)Ggc>Agc	p.G468S	ATXN2L_ENST00000570200.1_Missense_Mutation_p.G468S|ATXN2L_ENST00000395547.2_Missense_Mutation_p.G468S|ATXN2L_ENST00000340394.8_Missense_Mutation_p.G468S|ATXN2L_ENST00000325215.6_Missense_Mutation_p.G468S|ATXN2L_ENST00000564304.1_Missense_Mutation_p.G474S|RP11-24N18.1_ENST00000563565.1_RNA|ATXN2L_ENST00000382686.4_Missense_Mutation_p.G468S	NM_007245.3	NP_009176.2	Q8WWM7	ATX2L_HUMAN	ataxin 2-like	468					regulation of cytoplasmic mRNA processing body assembly (GO:0010603)|stress granule assembly (GO:0034063)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|membrane (GO:0016020)|nuclear speck (GO:0016607)	poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36						GCCTCCCATCGGCTCGGCAGT	0.592													.|||	1	0.000199681	8e-04	0	5008	,	,		17958	0		0	False		,,,				2504	0					ENST00000336783.4																			0				breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36						c.(1402-1404)Ggc>Agc		ataxin 2-like		G	SER/GLY,SER/GLY,SER/GLY,SER/GLY,SER/GLY	1,4393		0,1,2196	61	62	62		1402,1402,1402,1402,1402	5.7	1	16	dbSNP_134	62	1,8599		0,1,4299	no	missense,missense,missense,missense,missense	ATXN2L	NM_007245.2,NM_145714.1,NM_148414.1,NM_148415.1,NM_148416.1	56,56,56,56,56	0,2,6495	AA,AG,GG		0.0116,0.0228,0.0154	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	468/1076,468/1063,468/1098,468/1045,468/1045	28843606	2,12992	2197	4300	6497	SO:0001583	missense	11273					membrane		g.chr16:28843606G>A		CCDS10639.1, CCDS10640.1, CCDS10641.1, CCDS32423.1, CCDS45451.1, CCDS58443.1	16p11	2008-02-05			ENSG00000168488	ENSG00000168488			31326	protein-coding gene	gene with protein product		607931				11784712, 14769358	Standard	NM_007245		Approved	A2lp, A2D	uc002dqy.4	Q8WWM7	OTTHUMG00000097038	ENST00000336783.4:c.1402G>A	16.37:g.28843606G>A	ENSP00000338718:p.Gly468Ser					ATXN2L_ENST00000395547.2_Missense_Mutation_p.G468S|ATXN2L_ENST00000382686.4_Missense_Mutation_p.G468S|ATXN2L_ENST00000340394.8_Missense_Mutation_p.G468S|ATXN2L_ENST00000570200.1_Missense_Mutation_p.G468S|ATXN2L_ENST00000325215.6_Missense_Mutation_p.G468S|RP11-24N18.1_ENST00000563565.1_RNA|ATXN2L_ENST00000564304.1_Missense_Mutation_p.G474S	p.G468S	NM_007245.3	NP_009176.2	Q8WWM7	ATX2L_HUMAN			11	1569	+			468					A8K1R6|B9EGM2|E9PAR9|O95135|Q63ZY4|Q6NVJ8|Q6PJW6|Q8IU61|Q8IU95|Q8WWM3|Q8WWM4|Q8WWM5|Q8WWM6|Q99703	Missense_Mutation	SNP	ENST00000336783.4	37	c.1402G>A	CCDS10641.1	.	.	.	.	.	.	.	.	.	.	.	22.3	4.267896	0.80469	2.28E-4	1.16E-4	ENSG00000168488	ENST00000340394;ENST00000395547;ENST00000336783;ENST00000382686;ENST00000325215	T;T;T;T;T	0.48522	0.89;0.81;0.85;0.84;0.85	5.67	5.67	0.87782	.	0.000000	0.64402	D	0.000001	T	0.54303	0.1850	L	0.44542	1.39	0.42367	D	0.992433	D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D	0.91635	0.994;0.999;0.987;0.987;0.994;0.994;0.987;0.994	T	0.49173	-0.8967	10	0.06099	T	0.92	-11.5605	11.9422	0.52907	0.0806:0.0:0.9194:0.0	.	468;468;468;468;468;468;468;468	Q8WWM7-6;Q8WWM7-5;Q63ZY4;Q8WWM7;Q8WWM7-2;Q8WWM7-4;A8K1R6;Q8WWM7-3	.;.;.;ATX2L_HUMAN;.;.;.;.	S	468	ENSP00000341459:G468S;ENSP00000378917:G468S;ENSP00000338718:G468S;ENSP00000372133:G468S;ENSP00000315650:G468S	ENSP00000315650:G468S	G	+	1	0	ATXN2L	28751107	1.000000	0.71417	0.974000	0.42286	0.984000	0.73092	3.908000	0.56355	2.677000	0.91161	0.491000	0.48974	GGC		0.592	ATXN2L-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000214139.1	NM_007245		27	73	0	0	0	1	0	27	73					A	28843606	G	A	28843606	3	1	305	1	0	0	0	0	1	0	0	0	1212	1116	39	2	1444	2	ATXN2L	16	28843606	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	3575278	28843606	61511147	830	15347											
QPRT	23475	broad.mit.edu	37	chr16	29708606	29708606	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ggcatcaccctggacaacctCccccagttctgcgggccgca	7	6	10	18	2	2	0	1	0	1	0	3	1	3	1	5	3	2	3	5	3	1	1			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr16:29708606C>T	ENST00000395384.4	+	4	929	c.768C>T	c.(766-768)ctC>ctT	p.L256L	QPRT_ENST00000562473.1_Silent_p.L108L|QPRT_ENST00000219771.7_3'UTR	NM_014298.3	NP_055113.2	Q15274	NADC_HUMAN	quinolinate phosphoribosyltransferase	256					NAD biosynthetic process (GO:0009435)|NAD metabolic process (GO:0019674)|protein oligomerization (GO:0051259)|quinolinate catabolic process (GO:0034213)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	nicotinate-nucleotide diphosphorylase (carboxylating) activity (GO:0004514)|protein homodimerization activity (GO:0042803)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)	9					Niacin(DB00627)	TGGACAACCTCCCCCAGTTCT	0.637																																						ENST00000395384.4																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)	9						c.(766-768)ctC>ctT		quinolinate phosphoribosyltransferase	Niacin(DB00627)						41	43	43					16																	29708606		2197	4300	6497	SO:0001819	synonymous_variant	23475				protein oligomerization|quinolinate catabolic process|water-soluble vitamin metabolic process	cytosol	nicotinate-nucleotide diphosphorylase (carboxylating) activity|protein homodimerization activity	g.chr16:29708606C>T	D78177	CCDS10651.1	16p11.2	2008-07-31	2008-07-31		ENSG00000103485	ENSG00000103485	2.4.2.19		9755	protein-coding gene	gene with protein product	"nicotinate-nucleotide pyrophosphorylase (carboxylating)"	606248				9473669	Standard	NM_014298		Approved	QPRTase	uc002dto.3	Q15274	OTTHUMG00000097770	ENST00000395384.4:c.768C>T	16.37:g.29708606C>T						QPRT_ENST00000562473.1_Silent_p.L108L|QPRT_ENST00000219771.7_3'UTR	p.L256L	NM_014298.3	NP_055113.2	Q15274	NADC_HUMAN			4	929	+			256					Q53XW7|Q96G22|Q9BSG6	Silent	SNP	ENST00000395384.4	37	c.768C>T	CCDS10651.1																																																																																				0.637	QPRT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215011.2	NM_014298		11	38	0	0	0	1	0	11	38					T	29708606	C	T	29708606	2	4	305	1	0	0	0	0	0	0	0	1	12876	842	30	3		3	QPRT	16	29708606	Silent	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	865000	29708606	60646147	831	15348											
TAOK2	9344	broad.mit.edu	37	chr16	29996668	29996668	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgaggggtgaacgggaggaGcacagtgcacggctgcagcg	9	4	19	9	3	0	2	0	2	0	0	0	4	0	4	0	5	5	4	0	5	1	0			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr16:29996668G>A	ENST00000308893.4	+	14	2600	c.1557G>A	c.(1555-1557)gaG>gaA	p.E519E	TAOK2_ENST00000416441.2_Silent_p.E346E|TAOK2_ENST00000543033.1_Silent_p.E519E|TAOK2_ENST00000279394.3_Silent_p.E519E	NM_001252043.1|NM_016151.3	NP_001238972.1|NP_057235.2	Q9UL54	TAOK2_HUMAN	TAO kinase 2	519					actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|apoptotic process (GO:0006915)|cell migration (GO:0016477)|cellular response to DNA damage stimulus (GO:0006974)|focal adhesion assembly (GO:0048041)|G2 DNA damage checkpoint (GO:0031572)|positive regulation of JNK cascade (GO:0046330)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein targeting to membrane (GO:0006612)|regulation of cell growth (GO:0001558)|regulation of cell shape (GO:0008360)|response to stress (GO:0006950)|stress-activated MAPK cascade (GO:0051403)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|nucleolus (GO:0005730)|nucleus (GO:0005634)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|mitogen-activated protein kinase kinase binding (GO:0031434)|protein serine/threonine kinase activity (GO:0004674)	p.E519D(2)		breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1)	22						AACGGGAGGAGCACAGTGCAC	0.672																																						ENST00000308893.4																			2	Substitution - Missense(2)	p.E519D(2)	lung(2)	breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1)	22						c.(1555-1557)gaG>gaA		TAO kinase 2							24	24	24					16																	29996668		2197	4300	6497	SO:0001819	synonymous_variant	9344				actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress	cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus	ATP binding|protein serine/threonine kinase activity	g.chr16:29996668G>A	AB020688	CCDS10662.1, CCDS10663.1, CCDS58448.1	16p11.2	2008-02-05			ENSG00000149930	ENSG00000149930			16835	protein-coding gene	gene with protein product		613199				10048485, 9786855	Standard	NM_016151		Approved	TAO1, KIAA0881, PSK, PSK1, TAO2, MAP3K17	uc002dva.2	Q9UL54	OTTHUMG00000132111	ENST00000308893.4:c.1557G>A	16.37:g.29996668G>A						TAOK2_ENST00000279394.3_Silent_p.E519E|TAOK2_ENST00000416441.2_Silent_p.E346E|TAOK2_ENST00000543033.1_Silent_p.E519E	p.E519E	NM_001252043.1|NM_016151.3	NP_001238972.1|NP_057235.2	Q9UL54	TAOK2_HUMAN			14	2600	+			519					A5PKY1|A7MCZ2|B2RN35|B7ZM88|O94957|Q6UW73|Q7LC09|Q9NSW2	Silent	SNP	ENST00000308893.4	37	c.1557G>A	CCDS10663.1																																																																																				0.672	TAOK2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000255152.2	NM_016151		13	29	0	0	0	1	0	13	29					A	29996668	G	A	29996668	2	1	305	1	0	0	0	0	0	0	0	1	15545	962	34	3		3	TAOK2	16	29996668	Silent	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	288062	29996668	60358085	832	15349											
TAOK2	8479	broad.mit.edu	37	chr16	30002649	30002649	+	IGR	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctccagcctggcgtcagccGtctctgctggctcccccagg	3	8	11	19	2	2	0	1	0	1	0	5	0	4	0	6	3	3	2	6	3	0	0			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr16:30002649G>A	ENST00000279392.3	-	0	3385				TAOK2_ENST00000279394.3_Silent_p.P970P	NM_003609.4	NP_003600.2	Q9BW71	HIRP3_HUMAN	HIRA interacting protein 3						chromatin assembly or disassembly (GO:0006333)	nucleus (GO:0005634)				central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(1)|lung(9)	17						GGCGTCAGCCGTCTCTGCTGG	0.711																																						ENST00000279394.3																			0				breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1)	22						c.(2908-2910)ccG>ccA		TAO kinase 2							14	17	16					16																	30002649		2181	4255	6436	SO:0001628	intergenic_variant	9344				actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress	cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus	ATP binding|protein serine/threonine kinase activity	g.chr16:30002649G>A	AJ223351	CCDS10664.1, CCDS58449.1	16p12.1	2008-02-05	2001-11-29		ENSG00000149929	ENSG00000149929			4917	protein-coding gene	gene with protein product		603365	"HIRA-interacting protein 3"			9710638	Standard	NM_003609		Approved		uc002dve.3	Q9BW71	OTTHUMG00000132118		16.37:g.30002649G>A							p.P970P	NM_004783.3	NP_004774.1	Q9UL54	TAOK2_HUMAN			19	3313	+			859			Leu-rich.		H3BSR3|O75707|O75708	Silent	SNP	ENST00000279392.3	37	c.2910G>A	CCDS10664.1																																																																																				0.711	HIRIP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255160.2	NM_003609		4	45	0	0	0	1	0	4	45					A	30002649	G	A	30002649	1	1	305	0	1	0	0	0	0	0	0	0	15545	1132	40	1		1	TAOK2	16	30002649	IGR	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	5981	30002649	60352104	833	15350											
ZNF48	197407	broad.mit.edu	37	chr16	30409310	30409310	+	Frame_Shift_Del	DEL	C	C	-																															ggacacaccggggggagcagCccccccgaccagtggtgccc																										TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr16:30409310delC	ENST00000320159.2	+	2	1115	c.739delC	c.(739-741)cccfs	p.P248fs	SEPT1_ENST00000570039.1_5'Flank	NM_001214906.1|NM_001214907.1|NM_001214909.1|NM_152652.2	NP_001201835.1|NP_001201836.1|NP_001201838.1|NP_689865.2	Q96MX3	ZNF48_HUMAN	zinc finger protein 48	248					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(11)|ovary(2)|pancreas(1)|skin(1)	21						GGGGGAGCAGCCCCCCCGACC	0.637																																						ENST00000320159.2																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(11)|ovary(2)|pancreas(1)|skin(1)	21						c.(739-741)ccfs		zinc finger protein 48							37	45	42					16																	30409310		2197	4300	6497	SO:0001589	frameshift_variant	197407				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:30409310delC	M88358, AK056313	CCDS10679.1, CCDS73868.1	16p11.2	2013-01-08			ENSG00000180035	ENSG00000180035		"Zinc fingers, C2H2-type"	13114	protein-coding gene	gene with protein product			"zinc finger protein 553"	ZNF553		1505991	Standard	NM_152652		Approved	DKFZp762K013, FLJ31751, MGC43952	uc021tgi.1	Q96MX3	OTTHUMG00000048195	ENST00000320159.2:c.739delC	16.37:g.30409310delC	ENSP00000324056:p.Pro248fs						p.P248fs	NM_001214906.1|NM_001214907.1|NM_001214909.1|NM_152652.2	NP_001201835.1|NP_001201836.1|NP_001201838.1|NP_689865.2	Q96MX3	ZNF48_HUMAN			2	1115	+			248					Q15920|Q4G0R3|Q69YP3|Q96IL9	Frame_Shift_Del	DEL	ENST00000320159.2	37	c.739delC	CCDS10679.1																																																																																				0.637	ZNF48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255549.2	NM_152652		29	57						29	57	---	---	---	---	-	30409310	C	-	30409310	7	5	305	1	0	1	0	1	0	0	0	0	17931	739	26	0	745	0	ZNF48	16	30409310	Frame_Shift_Del	DEL	C	TCGA-KK-A59V-01A-11D-A29Q-08	406661	30409310	59945443	834	15351											
ITGAL	3683	broad.mit.edu	37	chr16	30518157	30518157	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tccccccgggactctccttcCgcaaggtggagatgctgaag	7	8	12	14	2	1	2	0	1	1	1	4	4	3	3	5	3	1	2	5	3	2	1			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr16:30518157C>T	ENST00000356798.6	+	21	2668	c.2488C>T	c.(2488-2490)Cgc>Tgc	p.R830C	MIR4518_ENST00000580665.1_RNA|ITGAL_ENST00000433423.2_Intron|ITGAL_ENST00000358164.5_Missense_Mutation_p.R746C	NM_002209.2	NP_002200.2	P20701	ITAL_HUMAN	integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide)	830					activated T cell proliferation (GO:0050798)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|cellular component movement (GO:0006928)|extracellular matrix organization (GO:0030198)|heterophilic cell-cell adhesion (GO:0007157)|inflammatory response (GO:0006954)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of T cell proliferation (GO:0042102)|receptor clustering (GO:0043113)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell (GO:0002291)	cell surface (GO:0009986)|cell-cell junction (GO:0005911)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|integrin alphaL-beta2 complex (GO:0034687)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|ICAM-3 receptor activity (GO:0030369)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	76					Antithymocyte globulin(DB00098)|Efalizumab(DB00095)|Lovastatin(DB00227)	ACTCTCCTTCCGCAAGGTGGA	0.607																																					NSCLC(110;1462 1641 3311 33990 49495)	ENST00000356798.6																			0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	76						c.(2488-2490)Cgc>Tgc		integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide)	Efalizumab(DB00095)						110	107	108					16																	30518157		2197	4300	6497	SO:0001583	missense	0				blood coagulation|heterophilic cell-cell adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell	integrin complex	cell adhesion molecule binding|receptor activity	g.chr16:30518157C>T		CCDS32433.1, CCDS45461.1	16p13.1-p11	2010-03-23				ENSG00000005844		"CD molecules", "Integrins"	6148	protein-coding gene	gene with protein product		153370		CD11A		3284962	Standard	NM_002209		Approved	LFA-1	uc002dyi.4	P20701		ENST00000356798.6:c.2488C>T	16.37:g.30518157C>T	ENSP00000349252:p.Arg830Cys					ITGAL_ENST00000433423.2_Intron|ITGAL_ENST00000358164.5_Missense_Mutation_p.R746C	p.R830C	NM_002209.2	NP_002200.2	P20701	ITAL_HUMAN			21	2668	+			830					O43746|Q45H73|Q96HB1|Q9UBC8	Missense_Mutation	SNP	ENST00000356798.6	37	c.2488C>T	CCDS32433.1	.	.	.	.	.	.	.	.	.	.	c	18.18	3.566240	0.65651	.	.	ENSG00000005844	ENST00000356798;ENST00000358164	T;T	0.48836	0.8;0.8	5.2	2.99	0.34606	Integrin alpha-2 (1);	0.000000	0.39341	N	0.001386	T	0.62998	0.2474	M	0.80847	2.515	0.80722	D	1	D;D	0.67145	0.996;0.992	P;P	0.58660	0.843;0.843	T	0.68969	-0.5269	10	0.87932	D	0	.	11.3024	0.49314	0.342:0.658:0.0:0.0	.	746;830	Q96HB1;P20701	.;ITAL_HUMAN	C	830;746	ENSP00000349252:R830C;ENSP00000350886:R746C	ENSP00000349252:R830C	R	+	1	0	ITGAL	30425658	1.000000	0.71417	1.000000	0.80357	0.688000	0.40055	1.680000	0.37607	1.180000	0.42898	0.437000	0.28790	CGC		0.607	ITGAL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434508.2			64	188	0	0	0	1	0	64	188					T	30518157	C	T	30518157	3	4	305	1	0	0	0	0	1	0	0	0	7886	652	23	2	2570	2	ITGAL	16	30518157	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	108847	30518157	59836596	835	15352											
ARMC5	79798	broad.mit.edu	37	chr16	31473606	31473606	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgtccgctggccgagctcctGgccactgccccagatgctgc	4	7	12	18	3	0	1	0	0	0	1	2	2	2	1	6	2	4	3	6	2	0	0			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr16:31473606G>T	ENST00000563544.1	+	4	1284	c.738G>T	c.(736-738)ctG>ctT	p.L246L	ARMC5_ENST00000538189.1_Silent_p.L278L|RP11-452L6.5_ENST00000564629.1_RNA|ARMC5_ENST00000412665.2_Intron|ARMC5_ENST00000268314.4_Silent_p.L246L|ARMC5_ENST00000457010.2_Silent_p.L246L|ARMC5_ENST00000408912.3_Silent_p.L341L			Q96C12	ARMC5_HUMAN	armadillo repeat containing 5	246										central_nervous_system(1)|endometrium(4)|large_intestine(3)|liver(2)|lung(12)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						CCGAGCTCCTGGCCACTGCCC	0.672																																						ENST00000457010.2																			0				central_nervous_system(1)|endometrium(4)|large_intestine(3)|liver(2)|lung(12)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						c.(736-738)ctG>ctT		armadillo repeat containing 5							30	36	34					16																	31473606		2163	4268	6431	SO:0001819	synonymous_variant	79798						binding	g.chr16:31473606G>T	AY217348	CCDS42155.1, CCDS45472.1, CCDS73874.1	16p11	2013-02-14			ENSG00000140691	ENSG00000140691		"Armadillo repeat containing"	25781	protein-coding gene	gene with protein product		615549					Standard	NM_024742		Approved	FLJ13063	uc002ecc.3	Q96C12	OTTHUMG00000176618	ENST00000563544.1:c.738G>T	16.37:g.31473606G>T						ARMC5_ENST00000563544.1_Silent_p.L246L|ARMC5_ENST00000412665.2_Intron|ARMC5_ENST00000538189.1_Silent_p.L278L|ARMC5_ENST00000408912.3_Silent_p.L341L|ARMC5_ENST00000268314.4_Silent_p.L246L	p.L246L	NM_024742.2	NP_079018.1	Q96C12	ARMC5_HUMAN			3	1439	+			246					Q86WM9|Q9H7P8|Q9H925	Silent	SNP	ENST00000563544.1	37	c.738G>T	CCDS45472.1																																																																																				0.672	ARMC5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432847.1	NM_024742		17	34	1	0	1.15088e-07	1	1.18482e-07	17	34					T	31473606	G	T	31473606	2	4	305	1	0	0	0	0	0	0	0	1	954	1335	47	5		5	ARMC5	16	31473606	Silent	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	955449	31473606	58881147	836	15353											
C16orf87	388272	broad.mit.edu	37	chr16	46836915	46836915	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctatttatttctgccaaggcGactgaaaacacgaaagcctt	13	11	7	10	2	1	1	0	1	1	0	1	3	1	1	2	1	3	0	2	1	6	5	rs368374110		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr16:46836915G>A	ENST00000285697.4	-	4	675	c.414C>T	c.(412-414)gtC>gtT	p.V138V	C16orf87_ENST00000564250.1_5'UTR|C16orf87_ENST00000394806.2_Silent_p.V77V	NM_001001436.2	NP_001001436.1	Q6PH81	CP087_HUMAN	chromosome 16 open reading frame 87	138										large_intestine(4)|urinary_tract(1)	5						CTGCCAAGGCGACTGAAAACA	0.328																																						ENST00000394806.2																			0				large_intestine(4)|urinary_tract(1)	5						c.(229-231)gtC>gtT		chromosome 16 open reading frame 87		G		0,4404		0,0,2202	77	74	75		414	0.6	1	16		75	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	C16orf87	NM_001001436.2		0,1,6501	AA,AG,GG		0.0116,0.0,0.0077		138/155	46836915	1,13003	2202	4300	6502	SO:0001819	synonymous_variant	388272							g.chr16:46836915G>A		CCDS10724.1	16q11.2	2008-08-08			ENSG00000155330	ENSG00000155330			33754	protein-coding gene	gene with protein product							Standard	NM_001001436		Approved		uc002eek.1	Q6PH81	OTTHUMG00000132538	ENST00000285697.4:c.414C>T	16.37:g.46836915G>A						C16orf87_ENST00000564250.1_5'UTR|C16orf87_ENST00000285697.4_Silent_p.V138V	p.V77V			Q6PH81	CP087_HUMAN			3	243	-			138					Q63HN9	Silent	SNP	ENST00000285697.4	37	c.231C>T	CCDS10724.1																																																																																				0.328	C16orf87-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255738.2	NM_001001436		8	32	0	0	0	1	0	8	32					A	46836915	G	A	46836915	2	1	305	1	0	0	0	0	0	0	0	1	1840	1045	37	2		2	C16orf87	16	46836915	Silent	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	15363309	46836915	43517838	837	15354											
IRX6	79190	broad.mit.edu	37	chr16	55362955	55362955	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccgcgcatctggtctctggcGcacaccgcgacagccagcgc	6	5	12	18	6	2	0	0	0	2	0	3	1	2	0	3	2	2	2	3	2	0	0			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr16:55362955G>A	ENST00000290552.7	+	5	2397	c.1065G>A	c.(1063-1065)gcG>gcA	p.A355A	RP11-26L20.3_ENST00000558730.2_RNA	NM_024335.2	NP_077311.2	P78412	IRX6_HUMAN	iroquois homeobox 6	355					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			breast(2)|central_nervous_system(5)|endometrium(3)|kidney(2)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	33						GGTCTCTGGCGCACACCGCGA	0.627																																						ENST00000290552.7																			0				breast(2)|central_nervous_system(5)|endometrium(3)|kidney(2)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	33						c.(1063-1065)gcG>gcA		iroquois homeobox 6							56	52	53					16																	55362955		2198	4299	6497	SO:0001819	synonymous_variant	79190					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr16:55362955G>A	AF319966	CCDS32449.1	16q12.2	2011-06-20	2007-07-13	2003-01-10		ENSG00000159387		"Homeoboxes / TALE class"	14675	protein-coding gene	gene with protein product		606196	"iroquois homeobox protein 7", "iroquois homeobox protein 6"	IRX7			Standard	NM_024335		Approved	IRX-3	uc002ehy.3	P78412		ENST00000290552.7:c.1065G>A	16.37:g.55362955G>A						RP11-26L20.3_ENST00000558730.2_RNA	p.A355A	NM_024335.2	NP_077311.2	P78412	IRX6_HUMAN			5	2397	+			355					B2RN06|Q7Z2K0	Silent	SNP	ENST00000290552.7	37	c.1065G>A	CCDS32449.1																																																																																				0.627	IRX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417445.4	NM_024335		30	30	0	0	0	1	0	30	30					A	55362955	G	A	55362955	2	1	305	1	0	0	0	0	0	0	0	1	7848	1074	38	1		1	IRX6	16	55362955	Silent	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	8526040	55362955	34991798	838	15355											
CDH8	1006	broad.mit.edu	37	chr16	61935343	61935344	+	Frame_Shift_Ins	INS	-	-	T																															acctgataggatatacttgaINStttttttgctcccaggatcc																										TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr16:61935343_61935344insT	ENST00000577390.1	-	3	1240_1241	c.286_287insA	c.(286-288)atcfs	p.I96fs	CDH8_ENST00000577730.1_Frame_Shift_Ins_p.I96fs|CDH8_ENST00000584337.1_Frame_Shift_Ins_p.I96fs|CDH8_ENST00000299345.6_Frame_Shift_Ins_p.I96fs	NM_001796.4	NP_001787.2	P55286	CADH8_HUMAN	cadherin 8, type 2	96	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|response to cold (GO:0009409)|synaptic transmission, glutamatergic (GO:0035249)	axon terminus (GO:0043679)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synaptic cleft (GO:0043083)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		GATATACTTGATTTTTTTGCTC	0.376																																						ENST00000577390.1																			0				biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112						c.(286-288)caafs		cadherin 8, type 2																																				SO:0001589	frameshift_variant	1006				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr16:61935343_61935344insT	L34060	CCDS10802.1	16q22.1	2010-01-26			ENSG00000150394	ENSG00000150394		"Cadherins / Major cadherins"	1767	protein-coding gene	gene with protein product		603008				9615235, 2059658	Standard	NM_001796		Approved		uc002eog.2	P55286	OTTHUMG00000137493	ENST00000577390.1:c.287dupA	16.37:g.61935350_61935350dupT	ENSP00000462701:p.Ile96fs					CDH8_ENST00000577730.1_Frame_Shift_Ins_p.Q96fs|CDH8_ENST00000584337.1_Frame_Shift_Ins_p.Q96fs|CDH8_ENST00000299345.6_Frame_Shift_Ins_p.Q96fs	p.Q96fs	NM_001796.4	NP_001787.2	P55286	CADH8_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)	3	1240_1241	-		Ovarian(137;0.0799)|Melanoma(118;0.16)	96			Cadherin 1.		B3KWC1|Q14DC6|Q9ULB2	Frame_Shift_Ins	INS	ENST00000577390.1	37	c.286_287insA	CCDS10802.1																																																																																				0.376	CDH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268754.3	NM_001796		17	65						17	65	---	---	---	---	T	61935344	-	T	61935343	7	5	305	1	0	1	1	0	0	0	0	0	3116	333	12	0	2152	0	CDH8	16	61935343	Frame_Shift_Ins	INS	-	TCGA-KK-A59V-01A-11D-A29Q-08	6572388	61935343	28419410	839	15356											
CES3	23491	broad.mit.edu	37	chr16	67006865	67006865	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cagaagttcagggaggcctgGatgcagttctggtcagagac	10	8	15	8	0	3	2	2	0	1	2	3	5	3	4	1	4	1	3	1	4	1	2			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr16:67006865G>T	ENST00000303334.4	+	13	1700	c.1629G>T	c.(1627-1629)tgG>tgT	p.W543C	CES3_ENST00000394037.1_Missense_Mutation_p.W540C|CES3_ENST00000543856.1_Missense_Mutation_p.W182C	NM_024922.5	NP_079198.2	Q6UWW8	EST3_HUMAN	carboxylesterase 3	543						endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)	carboxylic ester hydrolase activity (GO:0052689)	p.W543*(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|ovary(3)|skin(1)	24		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0488)|Epithelial(162;0.127)		GGGAGGCCTGGATGCAGTTCT	0.577																																						ENST00000303334.4																			1	Substitution - Nonsense(1)	p.W543*(1)	endometrium(1)	breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|ovary(3)|skin(1)	24						c.(1627-1629)tgG>tgT		carboxylesterase 3							88	82	84					16																	67006865		2200	4300	6500	SO:0001583	missense	23491					endoplasmic reticulum lumen	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity	g.chr16:67006865G>T	AK025389	CCDS10826.1, CCDS54022.1, CCDS54023.1	16q22.1	2014-05-13	2008-07-25		ENSG00000172828	ENSG00000172828		"Carboxylesterases"	1865	protein-coding gene	gene with protein product	"esterase 31", "brain carboxylesterase BR3"	605279	"carboxylesterase 3 (brain)"			10518925, 14581373, 15100172, 20931200	Standard	NM_001185176		Approved	FLJ21736, ES31	uc002eqt.3	Q6UWW8	OTTHUMG00000137525	ENST00000303334.4:c.1629G>T	16.37:g.67006865G>T	ENSP00000304782:p.Trp543Cys					CES3_ENST00000543856.1_Missense_Mutation_p.W182C|CES3_ENST00000394037.1_Missense_Mutation_p.W540C	p.W543C	NM_024922.5	NP_079198.2	Q6UWW8	EST3_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0488)|Epithelial(162;0.127)	13	1700	+		Ovarian(137;0.0563)	543					B2Z3W9|F5H242|Q7Z6J1|Q9H6X7	Missense_Mutation	SNP	ENST00000303334.4	37	c.1629G>T	CCDS10826.1	.	.	.	.	.	.	.	.	.	.	G	13.55	2.269281	0.40095	.	.	ENSG00000172828	ENST00000303334;ENST00000394037;ENST00000543856	T;T;T	0.66815	-0.23;-0.23;-0.23	5.03	-2.31	0.06765	Carboxylesterase, type B (1);	1.042350	0.07715	N	0.942718	T	0.43456	0.1248	N	0.14661	0.345	0.09310	N	1	B;P	0.35192	0.111;0.489	B;B	0.32624	0.05;0.149	T	0.35624	-0.9781	10	0.87932	D	0	.	4.6403	0.12545	0.4033:0.2936:0.3032:0.0	.	182;543	F5H242;Q6UWW8	.;EST3_HUMAN	C	543;540;182	ENSP00000304782:W543C;ENSP00000377602:W540C;ENSP00000445559:W182C	ENSP00000304782:W543C	W	+	3	0	CES3	65564366	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-0.356000	0.07661	-0.450000	0.07107	-1.223000	0.01593	TGG		0.577	CES3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000268848.1	NM_024922		27	43	1	0	2.44723e-14	1	2.55836e-14	27	43					T	67006865	G	T	67006865	3	4	305	1	0	0	0	0	1	0	0	0	3271	1183	41	5	1679	5	CES3	16	67006865	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	5071522	67006865	23347888	840	15357											
CES8	283848	broad.mit.edu	37	chr16	67042963	67042963	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ggattttaccacaagagtggGcatgaagctcaaggagaaga	15	7	13	6	0	1	4	1	1	0	3	1	6	1	5	1	3	2	2	1	3	5	2			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr16:67042963G>A	ENST00000326686.5	+	14	1604	c.1604G>A	c.(1603-1605)gGc>gAc	p.G535D	CES4A_ENST00000540947.2_Missense_Mutation_p.A468T|CES4A_ENST00000338718.4_Missense_Mutation_p.A491T|CES4A_ENST00000535696.1_Missense_Mutation_p.A374T|CES4A_ENST00000398354.1_Missense_Mutation_p.G465D|CES4A_ENST00000541479.1_Missense_Mutation_p.G488D|CES4A_ENST00000397205.2_3'UTR|CES4A_ENST00000540579.1_Missense_Mutation_p.G437D			Q5XG92	EST4A_HUMAN	carboxylesterase 4A	535						extracellular region (GO:0005576)	carboxylic ester hydrolase activity (GO:0052689)			large_intestine(2)|liver(2)|lung(4)|ovary(1)	9						ACAAGAGTGGGCATGAAGCTC	0.483																																						ENST00000540947.2																			0				large_intestine(2)|liver(2)|lung(4)|ovary(1)	9						c.(1402-1404)Gca>Aca		carboxylesterase 4A							160	157	158					16																	67042963		1952	4147	6099	SO:0001583	missense	283848					extracellular region	carboxylesterase activity	g.chr16:67042963G>A	AK094783	CCDS42174.1, CCDS42174.2, CCDS54024.1, CCDS54025.1, CCDS42174.3	16q22.1	2011-10-25	2010-10-12	2010-10-12	ENSG00000172824	ENSG00000172824		"Carboxylesterases"	26741	protein-coding gene	gene with protein product			"carboxylesterase 8 (putative)"	CES8		12975309, 17364878, 20931200	Standard	NM_001190201		Approved	FLJ37464	uc010vix.2	Q5XG92		ENST00000326686.5:c.1604G>A	16.37:g.67042963G>A	ENSP00000314145:p.Gly535Asp					CES4A_ENST00000541479.1_Missense_Mutation_p.G488D|CES4A_ENST00000397205.2_3'UTR|CES4A_ENST00000535696.1_Missense_Mutation_p.A374T|CES4A_ENST00000326686.5_Missense_Mutation_p.G535D|CES4A_ENST00000540579.1_Missense_Mutation_p.G437D|CES4A_ENST00000338718.4_Missense_Mutation_p.A491T|CES4A_ENST00000398354.1_Missense_Mutation_p.G465D	p.A468T	NM_173815.6	NP_776176.5	Q5XG92	EST4A_HUMAN			12	1586	+			0					A8KAJ6|B7Z349|B7Z3L2|B7Z6R3|Q6UX55|Q8N9F4	Missense_Mutation	SNP	ENST00000326686.5	37	c.1402G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.24|14.24	2.475445|2.475445	0.43942|0.43942	.|.	.|.	ENSG00000172824|ENSG00000172824	ENST00000540947;ENST00000338718;ENST00000535696|ENST00000541479;ENST00000398354;ENST00000326686;ENST00000538199;ENST00000540579	T;T;T|T;T;T;T;T	0.71817|0.66638	-0.57;-0.6;-0.49|0.24;0.24;-0.22;0.24;-0.22	5.06|5.06	1.74|1.74	0.24563|0.24563	.|.	.|0.157094	.|0.29767	.|N	.|0.011244	T|T	0.51261|0.51261	0.1664|0.1664	L|L	0.39692|0.39692	1.235|1.235	0.09310|0.09310	N|N	1|1	B;B|P	0.22146|0.39624	0.027;0.065|0.681	B;B|B	0.21546|0.34452	0.035;0.035|0.183	T|T	0.45789|0.45789	-0.9237|-0.9237	9|10	0.87932|0.54805	D|T	0|0.06	.|.	9.2337|9.2337	0.37453|0.37453	0.0:0.453:0.392:0.155|0.0:0.453:0.392:0.155	.|.	374;491|488	Q5XG92-7;F8WEE9|F5H5S4	.;.|.	T|D	468;491;374|488;465;535;428;437	ENSP00000444052:A468T;ENSP00000340714:A491T;ENSP00000441644:A374T|ENSP00000443175:G488D;ENSP00000381397:G465D;ENSP00000314145:G535D;ENSP00000441103:G428D;ENSP00000441907:G437D	ENSP00000340714:A491T|ENSP00000314145:G535D	A|G	+|+	1|2	0|0	CES4A|CES4A	65600464|65600464	0.317000|0.317000	0.24589|0.24589	0.005000|0.005000	0.12908|0.12908	0.000000|0.000000	0.00434|0.00434	0.789000|0.789000	0.26886|0.26886	0.500000|0.500000	0.27991|0.27991	-0.304000|-0.304000	0.09214|0.09214	GCA|GGC		0.483	CES4A-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_173815		5	160	0	0	0	1	0	5	160					A	67042963	G	A	67042963	3	1	305	1	0	0	0	0	1	0	0	0	3273	1203	42	3	1739	3	CES8	16	67042963	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	36098	67042963	23311790	841	15358											
EXOC3L	283849	broad.mit.edu	37	chr16	67220750	67220750	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ggccccactcagctacctccCcatccagtgcattctgcagc	7	8	7	19	0	2	0	1	0	1	0	4	0	4	0	6	1	5	3	6	1	1	2			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr16:67220750C>A	ENST00000314586.6	-	7	1436	c.1196G>T	c.(1195-1197)gGg>gTg	p.G399V	EXOC3L1_ENST00000562887.1_5'Flank|KIAA0895L_ENST00000563902.1_5'Flank|KIAA0895L_ENST00000561621.1_5'Flank|KIAA0895L_ENST00000290881.7_5'Flank	NM_178516.3	NP_848611.2	Q86VI1	EX3L1_HUMAN	exocyst complex component 3-like 1	399					exocytosis (GO:0006887)|peptide hormone secretion (GO:0030072)	exocyst (GO:0000145)|secretory granule (GO:0030141)				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	21						AGCTACCTCCCCATCCAGTGC	0.607																																						ENST00000314586.6																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	21						c.(1195-1197)gGg>gTg		exocyst complex component 3-like 1							56	58	57					16																	67220750		2198	4300	6498	SO:0001583	missense	283849				exocytosis|peptide hormone secretion	exocyst|stored secretory granule|transport vesicle		g.chr16:67220750C>A	AK092858	CCDS10832.1	16q22.1	2011-01-31	2011-01-31	2011-01-31	ENSG00000179044	ENSG00000179044			27540	protein-coding gene	gene with protein product		614117	"exocyst complex component 3-like"	EXOC3L		12477932	Standard	NM_178516		Approved	FLJ35539, FLJ35587	uc002erx.1	Q86VI1	OTTHUMG00000137508	ENST00000314586.6:c.1196G>T	16.37:g.67220750C>A	ENSP00000325674:p.Gly399Val						p.G399V	NM_178516.3	NP_848611.2	Q86VI1	EX3L1_HUMAN			7	1436	-			399					A8K7I9|Q8NAD2|Q8TEN2	Missense_Mutation	SNP	ENST00000314586.6	37	c.1196G>T	CCDS10832.1	.	.	.	.	.	.	.	.	.	.	C	9.333	1.061130	0.19987	.	.	ENSG00000179044	ENST00000314586	T	0.05996	3.36	5.15	3.07	0.35406	.	0.057838	0.64402	D	0.000002	T	0.04588	0.0125	L	0.41079	1.255	0.58432	D	0.999992	B	0.29378	0.243	B	0.25140	0.058	T	0.43310	-0.9399	10	0.27785	T	0.31	-28.6553	3.3496	0.07147	0.2603:0.5107:0.1411:0.0879	.	399	Q86VI1	EX3L1_HUMAN	V	399	ENSP00000325674:G399V	ENSP00000325674:G399V	G	-	2	0	EXOC3L1	65778251	1.000000	0.71417	1.000000	0.80357	0.650000	0.38633	2.203000	0.42752	1.195000	0.43115	-0.483000	0.04790	GGG		0.607	EXOC3L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268827.2	NM_178516		11	76	1	0	1.58986e-06	1	1.63365e-06	11	76					A	67220750	C	A	67220750	3	1	305	1	0	0	0	0	1	0	0	0	5304	623	22	5	1076	5	EXOC3L	16	67220750	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	177787	67220750	23134003	842	15359											
CDH1	999	broad.mit.edu	37	chr16	68856088	68856088	+	Frame_Shift_Del	DEL	C	C	-																															ttcacagcagaactaacacaCggggcgagtgccaactggac																								rs33969373	byFrequency	TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr16:68856088delC	ENST00000261769.5	+	12	2087	c.1896delC	c.(1894-1896)cacfs	p.H632fs	CDH1_ENST00000422392.2_Frame_Shift_Del_p.H571fs|CDH1_ENST00000562836.1_3'UTR|RP11-354M1.2_ENST00000563916.1_RNA	NM_004360.3	NP_004351.1	P12830	CADH1_HUMAN	cadherin 1, type 1, E-cadherin (epithelial)	632	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|apoptotic process (GO:0006915)|calcium-dependent cell-cell adhesion (GO:0016339)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to amino acid stimulus (GO:0071230)|cellular response to indole-3-methanol (GO:0071681)|cellular response to lithium ion (GO:0071285)|cochlea development (GO:0090102)|epithelial cell morphogenesis (GO:0003382)|establishment of protein localization to plasma membrane (GO:0090002)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|homophilic cell adhesion (GO:0007156)|intestinal epithelial cell development (GO:0060576)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of epithelial cell proliferation (GO:0050680)|neuron projection development (GO:0031175)|pituitary gland development (GO:0021983)|positive regulation of transcription factor import into nucleus (GO:0042993)|positive regulation of transcription, DNA-templated (GO:0045893)|protein homooligomerization (GO:0051260)|protein localization to plasma membrane (GO:0072659)|protein metabolic process (GO:0019538)|regulation of branching involved in salivary gland morphogenesis (GO:0060693)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of immune response (GO:0050776)|regulation of neuron migration (GO:2001222)|regulation of protein localization to cell surface (GO:2000008)|regulation of water loss via skin (GO:0033561)|response to drug (GO:0042493)|response to toxic substance (GO:0009636)|salivary gland cavitation (GO:0060662)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|synapse assembly (GO:0007416)|tight junction assembly (GO:0070830)|trophectodermal cell differentiation (GO:0001829)	actin cytoskeleton (GO:0015629)|aggresome (GO:0016235)|apical junction complex (GO:0043296)|apical part of cell (GO:0045177)|axon terminus (GO:0043679)|basolateral plasma membrane (GO:0016323)|catenin complex (GO:0016342)|cell junction (GO:0030054)|cell surface (GO:0009986)|cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|endosome (GO:0005768)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|lateral loop (GO:0043219)|lateral plasma membrane (GO:0016328)|node of Ranvier (GO:0033268)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|Schmidt-Lanterman incisure (GO:0043220)|trans-Golgi network (GO:0005802)	ankyrin binding (GO:0030506)|beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)|cell adhesion molecule binding (GO:0050839)|gamma-catenin binding (GO:0045295)|glycoprotein binding (GO:0001948)|GTPase activating protein binding (GO:0032794)			NS(6)|biliary_tract(8)|breast(161)|central_nervous_system(4)|endometrium(9)|kidney(4)|large_intestine(13)|lung(13)|oesophagus(3)|ovary(2)|prostate(3)|soft_tissue(2)|stomach(76)|thyroid(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	311		all_neural(199;0.0189)|Ovarian(137;0.0563)		Epithelial(162;8.44e-05)|all cancers(182;0.000404)|OV - Ovarian serous cystadenocarcinoma(108;0.000426)|BRCA - Breast invasive adenocarcinoma(181;0.0261)		AACTAACACACGGGGCGAGTG	0.483			"Mis, N, F, S"		"lobular breast, gastric"	gastric			Hereditary Diffuse Gastric Cancer																													ENST00000261769.5			yes	Rec	yes	Familial gastric carcinoma	16	16q22.1	999	"Mis, N, F, S"	"cadherin 1, type 1, E-cadherin (epithelial) (ECAD)"			E		gastric	"lobular breast, gastric"		0				NS(6)|biliary_tract(8)|breast(161)|central_nervous_system(4)|endometrium(9)|kidney(4)|large_intestine(13)|lung(13)|oesophagus(3)|ovary(2)|prostate(3)|soft_tissue(2)|stomach(76)|thyroid(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	311						c.(1894-1896)cafs		cadherin 1, type 1, E-cadherin (epithelial)							100	84	89					16																	68856088		2198	4300	6498	SO:0001589	frameshift_variant	999	Hereditary Diffuse Gastric Cancer	Familial Cancer Database	HDGC	adherens junction organization|cellular component disassembly involved in apoptosis|cellular response to indole-3-methanol|cellular response to lithium ion|homophilic cell adhesion|negative regulation of cell-cell adhesion|positive regulation of transcription factor import into nucleus|positive regulation of transcription, DNA-dependent|regulation of immune response	actin cytoskeleton|aggresome|apical junction complex|catenin complex|cell-cell adherens junction|endosome|focal adhesion|Golgi apparatus|integral to membrane|internal side of plasma membrane|lateral plasma membrane|perinuclear region of cytoplasm	cell adhesion molecule binding|gamma-catenin binding	g.chr16:68856088delC	L08599	CCDS10869.1	16q22.1	2014-09-17			ENSG00000039068	ENSG00000039068		"CD molecules", "Cadherins / Major cadherins"	1748	protein-coding gene	gene with protein product	"E-Cadherin"	192090		UVO		9925936	Standard	NM_004360		Approved	uvomorulin, CD324	uc002ewg.1	P12830	OTTHUMG00000137561	ENST00000261769.5:c.1896delC	16.37:g.68856088delC	ENSP00000261769:p.His632fs					CDH1_ENST00000422392.2_Frame_Shift_Del_p.H571fs|CDH1_ENST00000562836.1_3'UTR|RP11-354M1.2_ENST00000563916.1_RNA	p.H632fs	NM_004360.3	NP_004351.1	P12830	CADH1_HUMAN		Epithelial(162;8.44e-05)|all cancers(182;0.000404)|OV - Ovarian serous cystadenocarcinoma(108;0.000426)|BRCA - Breast invasive adenocarcinoma(181;0.0261)	12	2087	+		all_neural(199;0.0189)|Ovarian(137;0.0563)	632			Cadherin 5.		A8K1U7|Q13799|Q14216|Q15855|Q16194|Q4PJ14|Q9UII8	Frame_Shift_Del	DEL	ENST00000261769.5	37	c.1896delC	CCDS10869.1																																																																																				0.483	CDH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268897.2	NM_004360		7	82						7	82	---	---	---	---	-	68856088	C	-	68856088	7	5	305	1	0	1	0	1	0	0	0	0	3095	535	19	0	1942	0	CDH1	16	68856088	Frame_Shift_Del	DEL	C	TCGA-KK-A59V-01A-11D-A29Q-08	1635338	68856088	21498665	843	15360											
ZFHX3	463	broad.mit.edu	37	chr16	72829831	72829831	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aagaccctcagctggtagtcCgtaaaccttgttcttgaaga	11	11	9	10	1	2	3	1	1	1	2	3	3	3	3	3	1	2	4	3	1	5	5	rs139895950	byFrequency	TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr16:72829831C>T	ENST00000268489.5	-	9	7422	c.6750G>A	c.(6748-6750)acG>acA	p.T2250T	ZFHX3_ENST00000397992.5_Silent_p.T1336T	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	2250					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|muscle organ development (GO:0007517)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of myoblast differentiation (GO:0045663)|regulation of neuron differentiation (GO:0045664)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	enzyme binding (GO:0019899)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				GCTGGTAGTCCGTAAACCTTG	0.512													C|||	6	0.00119808	0	0	5008	,	,		19884	0		0.006	False		,,,				2504	0					ENST00000268489.5																			0				NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153						c.(6748-6750)acG>acA		zinc finger homeobox 3		C	,	1,4395	2.1+/-5.4	0,1,2197	189	176	180		4008,6750	-11.6	0	16	dbSNP_134	180	17,8583	12.6+/-44.7	0,17,4283	no	coding-synonymous,coding-synonymous	ZFHX3	NM_001164766.1,NM_006885.3	,	0,18,6480	TT,TC,CC		0.1977,0.0227,0.1385	,	1336/2790,2250/3704	72829831	18,12978	2198	4300	6498	SO:0001819	synonymous_variant	463				muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr16:72829831C>T	D10250	CCDS10908.1, CCDS54035.1	16q22.3	2012-03-09	2007-08-09	2007-08-09	ENSG00000140836	ENSG00000140836		"Zinc fingers, C2H2-type", "Homeoboxes / ZF class"	777	protein-coding gene	gene with protein product		104155	"AT-binding transcription factor 1"	ATBF1		1719379, 7592926	Standard	NM_006885		Approved	ZNF927	uc002fck.3	Q15911	OTTHUMG00000137599	ENST00000268489.5:c.6750G>A	16.37:g.72829831C>T						ZFHX3_ENST00000397992.5_Silent_p.T1336T	p.T2250T	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN			9	7422	-		Ovarian(137;0.13)	2250					D3DWS8|O15101|Q13719	Silent	SNP	ENST00000268489.5	37	c.6750G>A	CCDS10908.1																																																																																				0.512	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269008.1	NM_006885		40	95	0	0	0	1	0	40	95					T	72829831	C	T	72829831	2	4	305	1	0	0	0	0	0	0	0	1	17631	639	23	2		2	ZFHX3	16	72829831	Silent	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	3973743	72829831	17524922	844	15361											
KIAA1609	57707	broad.mit.edu	37	chr16	84514303	84514303	+	Frame_Shift_Del	DEL	C	C	-																															agcccaaagtaattgtgctgCccccccataccctgcaaagg																										TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr16:84514303delC	ENST00000343629.6	-	7	1271	c.1089delG	c.(1087-1089)gggfs	p.G363fs	TLDC1_ENST00000535580.1_Frame_Shift_Del_p.G336fs	NM_020947.3	NP_065998.3	Q6P9B6	TLDC1_HUMAN	TBC/LysM-associated domain containing 1	363	TLD.					lysosomal membrane (GO:0005765)											AATTGTGCTGCCCCCCCATAC	0.547																																						ENST00000343629.6																			0											c.(1087-1089)ggfs		TBC/LysM-associated domain containing 1							69	63	65					16																	84514303		2200	4300	6500	SO:0001589	frameshift_variant	57707							g.chr16:84514303delC	AB046829	CCDS32498.1	16q24.1	2013-03-14	2013-03-14	2013-03-14	ENSG00000140950	ENSG00000140950			29325	protein-coding gene	gene with protein product	"TLD domain containing 1"		"KIAA1609"	KIAA1609		10997877	Standard	NM_020947		Approved		uc002fib.3	Q6P9B6	OTTHUMG00000176739	ENST00000343629.6:c.1089delG	16.37:g.84514303delC	ENSP00000343635:p.Gly363fs					TLDC1_ENST00000535580.1_Frame_Shift_Del_p.G336fs	p.G363fs	NM_020947.3	NP_065998.3					7	1271	-								Q8IZ64|Q9HCG3|Q9NTE8	Frame_Shift_Del	DEL	ENST00000343629.6	37	c.1089delG	CCDS32498.1																																																																																				0.547	TLDC1-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433421.1	NM_020947		22	27						22	27	---	---	---	---	-	84514303	C	-	84514303	7	5	305	1	0	1	0	1	0	0	0	0	8247	726	26	0	289	0	KIAA1609	16	84514303	Frame_Shift_Del	DEL	C	TCGA-KK-A59V-01A-11D-A29Q-08	11684472	84514303	5840450	845	15362											
KLHL36	79786	broad.mit.edu	37	chr16	84693388	84693388	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcctccatgaaccagcgccGtgtggatttctaccttgcct	6	11	10	14	2	1	1	0	1	1	0	2	2	2	2	6	2	4	0	6	2	2	3	rs377188394		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr16:84693388G>A	ENST00000564996.1	+	4	1301	c.1160G>A	c.(1159-1161)cGt>cAt	p.R387H	KLHL36_ENST00000258157.5_Intron	NM_024731.2	NP_079007.2	Q8N4N3	KLH36_HUMAN	kelch-like family member 36	387					protein ubiquitination (GO:0016567)					endometrium(3)|large_intestine(1)|lung(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						AACCAGCGCCGTGTGGATTTC	0.577																																						ENST00000564996.1																			0				endometrium(3)|large_intestine(1)|lung(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						c.(1159-1161)cGt>cAt		kelch-like family member 36		G	HIS/ARG	0,4398		0,0,2199	109	99	102		1160	5.8	1	16		102	1,8599	1.2+/-3.3	0,1,4299	no	missense	KLHL36	NM_024731.2	29	0,1,6498	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	387/617	84693388	1,12997	2199	4300	6499	SO:0001583	missense	79786							g.chr16:84693388G>A	AK022605	CCDS10948.1	16q24.1	2013-02-22	2013-02-22	2008-07-07	ENSG00000135686	ENSG00000135686		"Kelch-like", "BTB/POZ domain containing"	17844	protein-coding gene	gene with protein product			"chromosome 16 open reading frame 44", "kelch-like 36 (Drosophila)"	C16orf44			Standard	NM_024731		Approved	FLJ12543	uc002fig.3	Q8N4N3	OTTHUMG00000137642	ENST00000564996.1:c.1160G>A	16.37:g.84693388G>A	ENSP00000456743:p.Arg387His					KLHL36_ENST00000258157.5_Intron	p.R387H	NM_024731.2	NP_079007.2	Q8N4N3	KLH36_HUMAN			4	1301	+			387					Q8N5G6|Q9H9U6	Missense_Mutation	SNP	ENST00000564996.1	37	c.1160G>A	CCDS10948.1	.	.	.	.	.	.	.	.	.	.	G	32	5.145563	0.94603	0.0	1.16E-4	ENSG00000135686	ENST00000325279	.	.	.	5.76	5.76	0.90799	Kelch-type beta propeller (1);	0.000000	0.85682	D	0.000000	D	0.86306	0.5901	M	0.90922	3.16	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.88696	0.3212	9	0.87932	D	0	.	18.9641	0.92689	0.0:0.0:1.0:0.0	.	387	Q8N4N3	KLH36_HUMAN	H	387	.	ENSP00000317442:R387H	R	+	2	0	KLHL36	83250889	1.000000	0.71417	0.966000	0.40874	0.990000	0.78478	9.431000	0.97494	2.713000	0.92767	0.655000	0.94253	CGT		0.577	KLHL36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269084.2			17	44	0	0	0	1	0	17	44					A	84693388	G	A	84693388	3	1	305	1	0	0	0	0	1	0	0	0	8389	1145	40	1	1170	1	KLHL36	16	84693388	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	179085	84693388	5661365	846	15363											
KIAA0513	9764	broad.mit.edu	37	chr16	85101007	85101007	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gagaagatcttctctggaggGtaaggggcctgtgtggacga	9	9	17	6	1	2	2	0	0	2	2	3	6	2	4	1	5	0	1	1	5	2	2			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr16:85101007G>T	ENST00000566428.1	+	2	960		c.e2+1		KIAA0513_ENST00000258180.3_Splice_Site|KIAA0513_ENST00000538274.1_Splice_Site|KIAA0513_ENST00000567328.1_Splice_Site			O60268	K0513_HUMAN	KIAA0513							cytoplasm (GO:0005737)				breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(9)|pancreas(1)	18				BRCA - Breast invasive adenocarcinoma(80;0.234)		TCTCTGGAGGGTAAGGGGCCT	0.632																																						ENST00000566428.1																			0				breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(9)|pancreas(1)	18						c.e2+1		KIAA0513							41	32	35					16																	85101007		2194	4287	6481	SO:0001630	splice_region_variant	9764					cytoplasm		g.chr16:85101007G>T	AB011085	CCDS32499.1, CCDS67091.1, CCDS73919.1	16q24.1	2012-11-29			ENSG00000135709	ENSG00000135709			29058	protein-coding gene	gene with protein product		611675				9628581	Standard	XM_005256265		Approved		uc002fiu.3	O60268	OTTHUMG00000176597	ENST00000566428.1:c.329+1G>T	16.37:g.85101007G>T						KIAA0513_ENST00000538274.1_Splice_Site|KIAA0513_ENST00000567328.1_Splice_Site|KIAA0513_ENST00000258180.3_Splice_Site				O60268	K0513_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.234)	2	960	+								B4DSS5|D3DUM2|Q8N6G0	Splice_Site	SNP	ENST00000566428.1	37		CCDS32499.1	.	.	.	.	.	.	.	.	.	.	G	19.88	3.909496	0.72868	.	.	ENSG00000135709	ENST00000538274;ENST00000258180	.	.	.	4.68	4.68	0.58851	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.5569	0.84487	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	KIAA0513	83658508	1.000000	0.71417	0.997000	0.53966	0.902000	0.53008	8.731000	0.91529	2.304000	0.77564	0.655000	0.94253	.		0.632	KIAA0513-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432736.1	NM_014732	Intron	14	41	1	0	2.61681e-11	1	2.72249e-11	14	41					T	85101007	G	T	85101007	5	4	305	1	0	0	0	0	0	0	1	0	8181	1275	44	5	332	5	KIAA0513	16	85101007	Splice_Site	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	407619	85101007	5253746	847	15364											
ZFPM1	161882	broad.mit.edu	37	chr16	88555465	88555465	+	Frame_Shift_Del	DEL	C	C	-																															actcacccccaccgctgccgCcccccacatccccaggaggc																										TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr16:88555465delC	ENST00000319555.3	+	3	494	c.172delC	c.(172-174)cccfs	p.P59fs	ZFPM1_ENST00000569086.1_3'UTR	NM_153813.2	NP_722520.2	Q8IX07	FOG1_HUMAN	zinc finger protein, FOG family member 1	59					atrial septum morphogenesis (GO:0060413)|atrioventricular valve morphogenesis (GO:0003181)|blood coagulation (GO:0007596)|cardiac muscle tissue morphogenesis (GO:0055008)|definitive erythrocyte differentiation (GO:0060318)|embryonic hemopoiesis (GO:0035162)|erythrocyte differentiation (GO:0030218)|granulocyte differentiation (GO:0030851)|megakaryocyte development (GO:0035855)|megakaryocyte differentiation (GO:0030219)|mitral valve formation (GO:0003192)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of interleukin-4 biosynthetic process (GO:0045403)|negative regulation of mast cell differentiation (GO:0060377)|negative regulation of protein binding (GO:0032091)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|outflow tract morphogenesis (GO:0003151)|platelet formation (GO:0030220)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|primitive erythrocyte differentiation (GO:0060319)|regulation of chemokine production (GO:0032642)|regulation of definitive erythrocyte differentiation (GO:0010724)|T-helper cell lineage commitment (GO:0002295)|transcriptional activation by promoter-enhancer looping (GO:0071733)|tricuspid valve formation (GO:0003195)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II transcription factor binding (GO:0001085)|transcription factor binding (GO:0008134)			central_nervous_system(1)|ovary(2)|urinary_tract(1)	4				BRCA - Breast invasive adenocarcinoma(80;0.0478)		ACCGCTGCCGCCCCCCACATC	0.652																																					Pancreas(49;850 1106 29641 32847 38344)	ENST00000319555.3																			0				central_nervous_system(1)|ovary(2)|urinary_tract(1)	4						c.(172-174)ccfs		zinc finger protein, FOG family member 1							54	52	53					16																	88555465		2198	4299	6497	SO:0001589	frameshift_variant	161882				blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	DNA binding|transcription factor binding|zinc ion binding	g.chr16:88555465delC	AF488691	CCDS32502.1	16q24.2	2013-01-10	2012-11-27		ENSG00000179588	ENSG00000179588		"Zinc fingers, C2H2-type", "Zinc fingers, C2HC-type containing"	19762	protein-coding gene	gene with protein product		601950	"zinc finger protein, multitype 1"				Standard	NM_153813		Approved	FOG1, FOG, ZNF89A, ZC2HC11A	uc002fkv.3	Q8IX07	OTTHUMG00000173152	ENST00000319555.3:c.172delC	16.37:g.88555465delC	ENSP00000326630:p.Pro59fs					ZFPM1_ENST00000569086.1_3'UTR	p.P59fs	NM_153813.2	NP_722520.2	Q8IX07	FOG1_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0478)	3	494	+			59						Frame_Shift_Del	DEL	ENST00000319555.3	37	c.172delC	CCDS32502.1																																																																																				0.652	ZFPM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422270.2			15	41						15	41	---	---	---	---	-	88555465	C	-	88555465	7	5	305	1	0	1	0	1	0	0	0	0	17654	739	26	0	182	0	ZFPM1	16	88555465	Frame_Shift_Del	DEL	C	TCGA-KK-A59V-01A-11D-A29Q-08	3454458	88555465	1799288	848	15365											
ZC3H18	124245	broad.mit.edu	37	chr16	88689746	88689746	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagctcgttctcaggaagccGgtccaggtatgtccccaggg	7	8	13	13	2	1	0	1	0	1	0	5	1	3	1	4	4	2	3	4	4	2	2	rs576458945		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr16:88689746G>A	ENST00000301011.5	+	10	1987	c.1787G>A	c.(1786-1788)cGg>cAg	p.R596Q	ZC3H18_ENST00000452588.2_Missense_Mutation_p.R620Q	NM_144604.3	NP_653205.3	Q86VM9	ZCH18_HUMAN	zinc finger CCCH-type containing 18	596	Ser-rich.					nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.R596L(1)		endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(9)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	42				BRCA - Breast invasive adenocarcinoma(80;0.0542)		TCAGGAAGCCGGTCCAGGTAT	0.627													G|||	1	0.000199681	0	0	5008	,	,		17039	0		0	False		,,,				2504	0.001				Ovarian(121;375 2276 20373 38669)	ENST00000301011.5																			1	Substitution - Missense(1)	p.R596L(1)	lung(1)	endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(9)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	42						c.(1786-1788)cGg>cAg		zinc finger CCCH-type containing 18							50	50	50					16																	88689746		2198	4300	6498	SO:0001583	missense	124245					nucleus	nucleic acid binding|zinc ion binding	g.chr16:88689746G>A	BC001584	CCDS10967.1, CCDS73924.1	16q24.2-q24.3	2012-07-05			ENSG00000158545	ENSG00000158545		"Zinc fingers, CCCH-type domain containing"	25091	protein-coding gene	gene with protein product						17579712	Standard	NM_144604		Approved	NHN1	uc002fky.3	Q86VM9	OTTHUMG00000137679	ENST00000301011.5:c.1787G>A	16.37:g.88689746G>A	ENSP00000301011:p.Arg596Gln					ZC3H18_ENST00000452588.2_Missense_Mutation_p.R620Q	p.R596Q	NM_144604.3	NP_653205.3	Q86VM9	ZCH18_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0542)	10	1987	+			596			Ser-rich.		Q96DG4|Q96MP7	Missense_Mutation	SNP	ENST00000301011.5	37	c.1787G>A	CCDS10967.1	.	.	.	.	.	.	.	.	.	.	G	17.90	3.502821	0.64298	.	.	ENSG00000158545	ENST00000301011;ENST00000289509;ENST00000452588	T;T	0.54279	0.58;0.58	5.7	2.63	0.31362	.	0.162999	0.52532	N	0.000065	T	0.49779	0.1577	M	0.65498	2.005	0.45477	D	0.998446	B;B	0.18968	0.032;0.032	B;B	0.16722	0.016;0.016	T	0.49153	-0.8969	10	0.72032	D	0.01	-9.4706	11.1016	0.48177	0.1895:0.0:0.8105:0.0	.	620;596	E7ERS3;Q86VM9	.;ZCH18_HUMAN	Q	596;564;620	ENSP00000301011:R596Q;ENSP00000416951:R620Q	ENSP00000289509:R564Q	R	+	2	0	ZC3H18	87217247	1.000000	0.71417	0.885000	0.34714	0.946000	0.59487	2.728000	0.47319	0.328000	0.23435	0.561000	0.74099	CGG		0.627	ZC3H18-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000269168.1	NM_144604		14	17	0	0	0	1	0	14	17					A	88689746	G	A	88689746	3	1	305	1	0	0	0	0	1	0	0	0	17565	1116	39	2	1821	2	ZC3H18	16	88689746	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	134281	88689746	1665007	849	15366											
GALNS	2588	broad.mit.edu	37	chr16	88898438	88898438	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gacgtgccctggccaccatgCgagggcaggctccctcatcc	6	6	12	17	2	1	0	1	0	0	0	3	2	3	0	5	3	2	2	5	3	0	0	rs569725890		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr16:88898438C>T	ENST00000268695.5	-	9	1058	c.970G>A	c.(970-972)Gca>Aca	p.A324T	GALNS_ENST00000542788.1_Missense_Mutation_p.A249T	NM_000512.4	NP_000503.1	P34059	GALNS_HUMAN	galactosamine (N-acetyl)-6-sulfatase	324	Catalytic domain.				carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)	metal ion binding (GO:0046872)|N-acetylgalactosamine-4-sulfatase activity (GO:0003943)|N-acetylgalactosamine-6-sulfatase activity (GO:0043890)|sulfuric ester hydrolase activity (GO:0008484)			breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(8)	22				BRCA - Breast invasive adenocarcinoma(80;0.0496)		GGCCACCATGCGAGGGCAGGC	0.672													C|||	1	0.000199681	8e-04	0	5008	,	,		16509	0		0	False		,,,				2504	0				GBM(129;1929 2344 25209 33204)	ENST00000268695.5																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(8)	22						c.(970-972)Gca>Aca		galactosamine (N-acetyl)-6-sulfate sulfatase	Hyaluronidase(DB00070)						85	63	71					16																	88898438		2198	4300	6498	SO:0001583	missense	2588					lysosome	metal ion binding|N-acetylgalactosamine-4-sulfatase activity|N-acetylgalactosamine-6-sulfatase activity	g.chr16:88898438C>T	D17629	CCDS10970.1	16q24.3	2014-07-03	2014-07-03		ENSG00000141012	ENSG00000141012	3.1.6.4	"Arylsulfatase family"	4122	protein-coding gene	gene with protein product	"Morquio syndrome", "mucopolysaccharidosis type IVA"	612222	"galactosamine (N-acetyl)-6-sulfate sulfatase"			1755850	Standard	NM_000512		Approved	GAS, GALNAC6S	uc002fly.4	P34059	OTTHUMG00000137862	ENST00000268695.5:c.970G>A	16.37:g.88898438C>T	ENSP00000268695:p.Ala324Thr					GALNS_ENST00000542788.1_Missense_Mutation_p.A249T	p.A324T	NM_000512.4	NP_000503.1	P34059	GALNS_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0496)	9	1058	-			324					Q86VK3	Missense_Mutation	SNP	ENST00000268695.5	37	c.970G>A	CCDS10970.1	.	.	.	.	.	.	.	.	.	.	C	28.3	4.904269	0.92035	.	.	ENSG00000141012	ENST00000268695;ENST00000542788	D;D	0.98617	-5.03;-5.03	5.34	5.34	0.76211	Alkaline phosphatase-like, alpha/beta/alpha (1);Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.000000	0.85682	D	0.000000	D	0.99093	0.9688	M	0.85710	2.77	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.66084	0.921;0.941	D	0.99731	1.1012	10	0.31617	T	0.26	.	19.2116	0.93757	0.0:1.0:0.0:0.0	.	324;324	B2R6P1;P34059	.;GALNS_HUMAN	T	324;249	ENSP00000268695:A324T;ENSP00000438197:A249T	ENSP00000268695:A324T	A	-	1	0	GALNS	87425939	1.000000	0.71417	0.048000	0.18961	0.325000	0.28411	7.544000	0.82117	2.548000	0.85928	0.543000	0.68304	GCA		0.672	GALNS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269543.1			12	45	0	0	0	1	0	12	45					T	88898438	C	T	88898438	3	4	305	1	0	0	0	0	1	0	0	0	6206	768	27	1	622	1	GALNS	16	88898438	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	208692	88898438	1456315	850	15367											
CDH15	1013	broad.mit.edu	37	chr16	89245892	89245892	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtacccctggcgccgggcGcctgccctgagccgcgtgcg	2	6	15	18	6	0	1	0	1	0	0	0	1	0	1	6	2	4	1	6	2	1	1	rs373216025		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr16:89245892G>A	ENST00000289746.2	+	2	176	c.111G>A	c.(109-111)gcG>gcA	p.A37A	CDH15_ENST00000521087.1_3'UTR	NM_004933.2	NP_004924.1	P55291	CAD15_HUMAN	cadherin 15, type 1, M-cadherin (myotubule)	37					adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|muscle cell differentiation (GO:0042692)|positive regulation of muscle cell differentiation (GO:0051149)	caveola (GO:0005901)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	18				BRCA - Breast invasive adenocarcinoma(80;0.0261)		GGCGCCGGGCGCCTGCCCTGA	0.657																																						ENST00000289746.2																			0				central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	18						c.(109-111)gcG>gcA		cadherin 15, type 1, M-cadherin (myotubule)		G		1,4395	2.1+/-5.4	0,1,2197	82	82	82		111	-9.1	0	16		82	4,8596	3.7+/-12.6	0,4,4296	no	coding-synonymous	CDH15	NM_004933.2		0,5,6493	AA,AG,GG		0.0465,0.0227,0.0385		37/815	89245892	5,12991	2198	4300	6498	SO:0001819	synonymous_variant	1013				adherens junction organization|cell junction assembly|homophilic cell adhesion|muscle cell differentiation|positive regulation of muscle cell differentiation	integral to membrane|plasma membrane	calcium ion binding	g.chr16:89245892G>A	D83542	CCDS10976.1	16q24.3	2010-01-26	2008-10-30		ENSG00000129910	ENSG00000129910		"Cadherins / Major cadherins"	1754	protein-coding gene	gene with protein product		114019	"cadherin 15, M-cadherin (myotubule)"	CDH3, CDH14		1427864	Standard	NM_004933		Approved		uc002fmt.3	P55291	OTTHUMG00000138045	ENST00000289746.2:c.111G>A	16.37:g.89245892G>A						CDH15_ENST00000521087.1_3'UTR	p.A37A	NM_004933.2	NP_004924.1	P55291	CAD15_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0261)	2	176	+			37						Silent	SNP	ENST00000289746.2	37	c.111G>A	CCDS10976.1																																																																																				0.657	CDH15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269920.1	NM_004933		35	87	0	0	0	1	0	35	87					A	89245892	G	A	89245892	2	1	305	1	0	0	0	0	0	0	0	1	3100	1074	38	1		1	CDH15	16	89245892	Silent	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	347454	89245892	1108861	851	15368											
ZNF276	92822	broad.mit.edu	37	chr16	89799939	89799939	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttaccagggctgcacggccGtgtaccgaggcgctgacggc	6	6	15	14	5	0	1	0	1	0	0	0	2	0	1	3	4	3	4	3	4	2	2	rs141797932		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr16:89799939G>A	ENST00000443381.2	+	8	1427	c.1330G>A	c.(1330-1332)Gtg>Atg	p.V444M	ZNF276_ENST00000568064.1_Missense_Mutation_p.V352M|ZNF276_ENST00000446326.2_Missense_Mutation_p.V230M|ZNF276_ENST00000289816.5_Missense_Mutation_p.V369M	NM_001113525.1	NP_001106997.1	Q8N554	ZN276_HUMAN	zinc finger protein 276	444					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)	14		Lung NSC(15;2.19e-05)|all_lung(18;3.07e-05)|all_hematologic(23;0.0256)		BRCA - Breast invasive adenocarcinoma(80;0.0278)		CTGCACGGCCGTGTACCGAGG	0.642																																						ENST00000289816.5																			0				cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)	14						c.(1105-1107)Gtg>Atg		zinc finger protein 276		G	MET/VAL,MET/VAL	0,4394		0,0,2197	95	87	90		1330,1105	5.7	1	16	dbSNP_134	90	2,8598	2.2+/-6.3	0,2,4298	yes	missense,missense	ZNF276	NM_001113525.1,NM_152287.3	21,21	0,2,6495	AA,AG,GG		0.0233,0.0,0.0154	probably-damaging,probably-damaging	444/615,369/540	89799939	2,12992	2197	4300	6497	SO:0001583	missense	92822				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:89799939G>A	AK026482	CCDS10986.1, CCDS45554.1	16q24.3	2014-02-17	2006-02-10	2006-02-10	ENSG00000158805	ENSG00000158805		"Zinc fingers, C2H2-type"	23330	protein-coding gene	gene with protein product	"centromere protein Z", "zinc finger, AD-type"	608460	"zinc finger protein 276 homolog (mouse)"	ZFP276		10936049, 20813266	Standard	NM_152287		Approved	MGC45417, ZNF477, CENPZ, CENP-Z, ZADT	uc002fos.4	Q8N554	OTTHUMG00000138050	ENST00000443381.2:c.1330G>A	16.37:g.89799939G>A	ENSP00000415836:p.Val444Met					ZNF276_ENST00000568064.1_Missense_Mutation_p.V352M|ZNF276_ENST00000446326.2_Missense_Mutation_p.V230M|ZNF276_ENST00000443381.2_Missense_Mutation_p.V444M	p.V369M	NM_152287.3	NP_689500.2	Q8N554	ZN276_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0278)	8	1417	+		Lung NSC(15;2.19e-05)|all_lung(18;3.07e-05)|all_hematologic(23;0.0256)	444					Q0VGA1|Q2TBE8|Q3B7H7	Missense_Mutation	SNP	ENST00000443381.2	37	c.1105G>A	CCDS45554.1	.	.	.	.	.	.	.	.	.	.	G	28.6	4.932899	0.92458	0.0	2.33E-4	ENSG00000158805	ENST00000446326;ENST00000289816;ENST00000443381	T;T;T	0.77750	-1.12;-1.12;-1.12	5.69	5.69	0.88448	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	D	0.84120	0.5402	L	0.38175	1.15	0.54753	D	0.999985	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;0.999;1.0;0.999	D	0.85199	0.1014	10	0.72032	D	0.01	-27.3966	18.7944	0.91988	0.0:0.0:1.0:0.0	.	282;444;230;369	B4DIT3;Q8N554;A8K186;Q8N554-2	.;ZN276_HUMAN;.;.	M	230;369;444	ENSP00000415999:V230M;ENSP00000289816:V369M;ENSP00000415836:V444M	ENSP00000289816:V369M	V	+	1	0	ZNF276	88327440	1.000000	0.71417	0.998000	0.56505	0.950000	0.60333	8.678000	0.91211	2.679000	0.91253	0.655000	0.94253	GTG		0.642	ZNF276-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422517.1	NM_152287		44	78	0	0	0	1	0	44	78					A	89799939	G	A	89799939	3	1	305	1	0	0	0	0	1	0	0	0	17808	1145	40	1	1360	1	ZNF276	16	89799939	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	554047	89799939	554814	852	15369											
WDR81	124997	broad.mit.edu	37	chr17	1637102	1637102	+	Frame_Shift_Del	DEL	G	G	-																															ccatctcgggggtgggtggcGggggcctgggcagcgggagc																										TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr17:1637102delG	ENST00000409644.1	+	7	4771	c.4771delG	c.(4771-4773)gggfs	p.G1592fs	RP11-961A15.1_ENST00000576540.1_RNA|WDR81_ENST00000545662.1_Frame_Shift_Del_p.G223fs|WDR81_ENST00000309182.5_Frame_Shift_Del_p.G541fs|WDR81_ENST00000446363.1_Frame_Shift_Del_p.G231fs|WDR81_ENST00000437219.2_Frame_Shift_Del_p.G389fs|WDR81_ENST00000419248.1_Frame_Shift_Del_p.G365fs	NM_001163809.1	NP_001157281.1	Q562E7	WDR81_HUMAN	WD repeat domain 81	1592	Poly-Gly.				negative regulation of phosphatase activity (GO:0010923)		transferase activity, transferring phosphorus-containing groups (GO:0016772)			cervix(1)|endometrium(1)|kidney(3)|lung(6)|ovary(2)|prostate(2)|skin(1)	16				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		GGTGGGTGGCGGGGGCCTGGG	0.682																																						ENST00000409644.1																			0				cervix(1)|endometrium(1)|kidney(3)|lung(6)|ovary(2)|prostate(2)|skin(1)	16						c.(4771-4773)ggfs		WD repeat domain 81							25	30	29					17																	1637102		2202	4292	6494	SO:0001589	frameshift_variant	124997							g.chr17:1637102delG	AK074111	CCDS54061.1, CCDS54062.1, CCDS54063.1	17p13.3	2014-06-13			ENSG00000167716	ENSG00000167716		"WD repeat domain containing"	26600	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 166"	614218					Standard	NM_001163673		Approved	FLJ33817, PPP1R166	uc002ftj.2	Q562E7	OTTHUMG00000153941	ENST00000409644.1:c.4771delG	17.37:g.1637102delG	ENSP00000386609:p.Gly1592fs					WDR81_ENST00000437219.2_Frame_Shift_Del_p.G389fs|WDR81_ENST00000446363.1_Frame_Shift_Del_p.G231fs|WDR81_ENST00000545662.1_Frame_Shift_Del_p.G223fs|WDR81_ENST00000419248.1_Frame_Shift_Del_p.G365fs|WDR81_ENST00000309182.5_Frame_Shift_Del_p.G541fs|RP11-961A15.1_ENST00000576540.1_RNA	p.G1592fs	NM_001163809.1	NP_001157281.1	B3KXU1	B3KXU1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)	7	4771	+			365					B3KW16|B3KXU1|B7Z579|E9PHG7|Q24JP6|Q8N277|Q8N3F3|Q8TEL1	Frame_Shift_Del	DEL	ENST00000409644.1	37	c.4771delG	CCDS54062.1																																																																																				0.682	WDR81-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333118.2	NM_152348		29	83						29	83	---	---	---	---	-	1637102	G	-	1637102	7	5	305	1	0	1	0	1	0	0	0	0	17327	1116	39	0	4859	0	WDR81	17	1637102	Frame_Shift_Del	DEL	G	TCGA-KK-A59V-01A-11D-A29Q-08		1637102	79558108	853	15370											
SERPINF1	5176	broad.mit.edu	37	chr17	1673175	1673175	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaccccgacagcacaggggcGctggtggaggaggaggatcc	9	3	18	11	2	0	0	0	0	0	0	1	6	1	4	3	7	1	2	3	7	0	0			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr17:1673175G>A	ENST00000254722.4	+	3	277	c.114G>A	c.(112-114)gcG>gcA	p.A38A	SERPINF1_ENST00000571870.1_3'UTR	NM_002615.5	NP_002606.3	P36955	PEDF_HUMAN	serpin peptidase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 1	38					aging (GO:0007568)|cell proliferation (GO:0008283)|kidney development (GO:0001822)|multicellular organismal development (GO:0007275)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|negative regulation of inflammatory response (GO:0050728)|positive regulation of neurogenesis (GO:0050769)|regulation of proteolysis (GO:0030162)|response to glucocorticoid (GO:0051384)|response to retinoic acid (GO:0032526)|short-term memory (GO:0007614)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase inhibitor activity (GO:0004867)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(2)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	16						GCACAGGGGCGCTGGTGGAGG	0.602																																						ENST00000254722.4																			0				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(2)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	16						c.(112-114)gcG>gcA		serpin peptidase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 1							85	88	87					17																	1673175		2203	4300	6503	SO:0001819	synonymous_variant	5176				cell proliferation|negative regulation of angiogenesis|positive regulation of neurogenesis|regulation of proteolysis	extracellular space|melanosome	serine-type endopeptidase inhibitor activity	g.chr17:1673175G>A	M76979	CCDS11012.1	17p13.3	2014-02-18	2005-08-18		ENSG00000132386	ENSG00000132386		"Serine (or cysteine) peptidase inhibitors"	8824	protein-coding gene	gene with protein product	"pigment epithelium-derived factor", "proliferation-inducing protein 35"	172860	"serine (or cysteine) proteinase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 1"	PEDF		8434014, 24172014	Standard	NM_002615		Approved	EPC-1, PIG35	uc002ftl.3	P36955	OTTHUMG00000090571	ENST00000254722.4:c.114G>A	17.37:g.1673175G>A						SERPINF1_ENST00000571870.1_3'UTR	p.A38A	NM_002615.5	NP_002606.3	P36955	PEDF_HUMAN			3	277	+			38					F1T092|Q13236|Q2TU83|Q96CT1|Q96R01|Q9BWA4	Silent	SNP	ENST00000254722.4	37	c.114G>A	CCDS11012.1																																																																																				0.602	SERPINF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207109.4	NM_002615		42	118	0	0	0	1	0	42	118					A	1673175	G	A	1673175	2	1	305	1	0	0	0	0	0	0	0	1	14114	1074	38	1		1	SERPINF1	17	1673175	Silent	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	36073	1673175	79522035	854	15371											
HIC1	3090	broad.mit.edu	37	chr17	1961767	1961767	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcagccacatgaagatgcacGccgtggggggcgcggccggc	7	4	17	13	5	1	2	1	1	0	1	1	2	1	2	3	5	2	1	3	5	1	0			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr17:1961767G>A	ENST00000322941.3	+	2	1840	c.1840G>A	c.(1840-1842)Gcc>Acc	p.A614T	SMG6_ENST00000573166.1_5'Flank|HIC1_ENST00000399849.3_Missense_Mutation_p.A595T	NM_001098202.1	NP_001091672.1	Q14526	HIC1_HUMAN	hypermethylated in cancer 1	614					intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of Wnt signaling pathway (GO:0030178)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			large_intestine(1)|lung(1)|prostate(1)	3				READ - Rectum adenocarcinoma(1115;0.236)		GAAGATGCACGCCGTgggggg	0.726																																						ENST00000399849.2																			0				large_intestine(1)|lung(1)|prostate(1)	3						c.(1783-1785)Gcc>Acc		hypermethylated in cancer 1							9	10	9					17																	1961767		2091	4157	6248	SO:0001583	missense	3090				multicellular organismal development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr17:1961767G>A		CCDS42229.1, CCDS42230.1	17p13.3	2013-01-09				ENSG00000177374		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	4909	protein-coding gene	gene with protein product		603825					Standard	NM_006497		Approved	ZBTB29, ZNF901	uc010cjy.3	Q14526		ENST00000322941.3:c.1840G>A	17.37:g.1961767G>A	ENSP00000314080:p.Ala614Thr					HIC1_ENST00000322941.3_Missense_Mutation_p.A614T	p.A595T	NM_006497.3	NP_006488.2	Q14526	HIC1_HUMAN		READ - Rectum adenocarcinoma(1115;0.236)	2	1943	+			614					D3DTI4	Missense_Mutation	SNP	ENST00000322941.3	37	c.1783G>A	CCDS42229.1	.	.	.	.	.	.	.	.	.	.	G	18.14	3.556986	0.65425	.	.	ENSG00000177374	ENST00000399849;ENST00000322941	T;T	0.07688	3.17;3.17	4.01	4.01	0.46588	Zinc finger, C2H2 (1);	.	.	.	.	T	0.02848	0.0085	N	0.08118	0	0.40073	D	0.976041	P	0.37061	0.58	B	0.26310	0.068	T	0.37911	-0.9685	9	0.02654	T	1	.	10.0686	0.42319	0.0955:0.0:0.9045:0.0	.	614	Q14526	HIC1_HUMAN	T	595;614	ENSP00000382742:A595T;ENSP00000314080:A614T	ENSP00000314080:A614T	A	+	1	0	HIC1	1908517	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	2.315000	0.43752	2.248000	0.74166	0.543000	0.68304	GCC		0.726	HIC1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438878.1	NM_006497		5	18	0	0	0	1	0	5	18					A	1961767	G	A	1961767	3	1	305	1	0	0	0	0	1	0	0	0	7101	1087	38	1	1846	1	HIC1	17	1961767	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	288592	1961767	79233443	855	15372											
SMG6	23293	broad.mit.edu	37	chr17	2196168	2196168	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agcagaggtaaaagtacctgCgtgctttcccataattcgct	11	11	9	10	2	0	1	0	0	0	1	2	1	1	1	2	1	4	5	2	1	4	5			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr17:2196168C>T	ENST00000263073.6	-	5	2305	c.2255G>A	c.(2254-2256)cGc>cAc	p.R752H	SMG6_ENST00000544865.1_Missense_Mutation_p.R721H	NM_017575.4	NP_060045.4	Q86US8	EST1A_HUMAN	SMG6 nonsense mediated mRNA decay factor	752					gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of dephosphorylation (GO:0035303)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|telomere maintenance (GO:0000723)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleus (GO:0005634)|telomerase holoenzyme complex (GO:0005697)	endoribonuclease activity (GO:0004521)|metal ion binding (GO:0046872)|telomeric DNA binding (GO:0042162)			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(10)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						AAAGTACCTGCGTGCTTTCCC	0.478																																					Melanoma(59;28 1088 11621 25887 46638 50814)	ENST00000544865.1																			0				NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(10)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						c.(2161-2163)cGc>cAc		SMG6 nonsense mediated mRNA decay factor							130	121	124					17																	2196168		2203	4300	6503	SO:0001583	missense	23293				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation|telomere maintenance	chromosome, telomeric region|cytosol|nucleolus|telomerase holoenzyme complex	endoribonuclease activity|metal ion binding|protein binding|telomeric DNA binding	g.chr17:2196168C>T	AB018275	CCDS11016.1, CCDS58498.1	17p13.3	2013-07-02	2013-07-02	2006-02-16	ENSG00000070366	ENSG00000070366			17809	protein-coding gene	gene with protein product	"EST1 telomerase component homolog A (S. cerevisiae)"	610963	"chromosome 17 open reading frame 31", "smg-6 homolog, nonsense mediated mRNA decay factor (C. elegans)"	C17orf31		12676087, 12699629	Standard	NM_017575		Approved	KIAA0732, SMG-6, EST1A	uc002fub.1	Q86US8	OTTHUMG00000177578	ENST00000263073.6:c.2255G>A	17.37:g.2196168C>T	ENSP00000263073:p.Arg752His					SMG6_ENST00000263073.5_Missense_Mutation_p.R752H	p.R721H			Q86US8	EST1A_HUMAN			5	2672	-			752					B7Z874|O94837|Q86VH6|Q9UF60	Missense_Mutation	SNP	ENST00000263073.6	37	c.2162G>A	CCDS11016.1	.	.	.	.	.	.	.	.	.	.	C	29.9	5.048000	0.93740	.	.	ENSG00000070366	ENST00000263073;ENST00000544865	T;T	0.18657	2.2;2.2	5.26	5.26	0.73747	Tetratricopeptide-like helical (1);	0.000000	0.85682	D	0.000000	T	0.50480	0.1618	M	0.77313	2.365	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.54016	-0.8356	10	0.66056	D	0.02	.	18.8613	0.92273	0.0:1.0:0.0:0.0	.	752	Q86US8	EST1A_HUMAN	H	752;721	ENSP00000263073:R752H;ENSP00000443920:R721H	ENSP00000263073:R752H	R	-	2	0	SMG6	2142918	1.000000	0.71417	1.000000	0.80357	0.852000	0.48524	7.770000	0.85390	2.469000	0.83416	0.467000	0.42956	CGC		0.478	SMG6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437826.3			15	54	0	0	0	1	0	15	54					T	2196168	C	T	2196168	3	4	305	1	0	0	0	0	1	0	0	0	14797	768	27	1	2064	1	SMG6	17	2196168	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	234401	2196168	78999042	856	15373											
SGSM2	9905	broad.mit.edu	37	chr17	2280072	2280072	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggctatgtgcagggcatgtgCgatctgctggcgcctctcct	4	11	14	12	2	2	0	0	0	2	0	3	1	2	0	2	3	3	4	2	3	1	1	rs536200061		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr17:2280072C>T	ENST00000426855.2	+	19	2695	c.2520C>T	c.(2518-2520)tgC>tgT	p.C840C	RP1-59D14.5_ENST00000574290.1_RNA|RP1-59D14.5_ENST00000573007.1_RNA|SGSM2_ENST00000268989.3_Silent_p.C885C|SGSM2_ENST00000574563.1_Silent_p.C840C	NM_001098509.1	NP_001091979.1	O43147	SGSM2_HUMAN	small G protein signaling modulator 2	840	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.				late endosome to Golgi transport (GO:0034499)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of Rab GTPase activity (GO:0032851)		Rab GTPase activator activity (GO:0005097)|Rab GTPase binding (GO:0017137)			biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				Colorectal(2;5.15e-05)|READ - Rectum adenocarcinoma(2;0.000115)		AGGGCATGTGCGATCTGCTGG	0.632													C|||	1	0.000199681	0	0	5008	,	,		19380	0		0	False		,,,				2504	0.001					ENST00000268989.3																			0				biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						c.(2653-2655)tgC>tgT		small G protein signaling modulator 2							172	156	161					17																	2280072		2203	4300	6503	SO:0001819	synonymous_variant	9905					intracellular	Rab GTPase activator activity	g.chr17:2280072C>T	BC039204	CCDS32526.1, CCDS45570.1	17p13.3	2013-07-10	2007-08-14	2007-08-14		ENSG00000141258		"Small G protein signaling modulators"	29026	protein-coding gene	gene with protein product		611418	"RUN and TBC1 domain containing 1"	RUTBC1		9455477, 17509819, 21808068	Standard	NM_014853		Approved	KIAA0397	uc002fum.4	O43147		ENST00000426855.2:c.2520C>T	17.37:g.2280072C>T						SGSM2_ENST00000574563.1_Silent_p.C840C|RP1-59D14.5_ENST00000574290.1_RNA|SGSM2_ENST00000426855.2_Silent_p.C840C	p.C885C	NM_014853.2	NP_055668.2	O43147	SGSM2_HUMAN		Colorectal(2;5.15e-05)|READ - Rectum adenocarcinoma(2;0.000115)	20	2832	+			840			Rab-GAP TBC.		A5LGW2|B4DH69|Q49AC2|Q6ZUY2|Q8IXU4	Silent	SNP	ENST00000426855.2	37	c.2655C>T	CCDS45570.1																																																																																				0.632	SGSM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438186.1	NM_014853		63	156	0	0	0	1	0	63	156					T	2280072	C	T	2280072	2	4	305	1	0	0	0	0	0	0	0	1	14223	776	27	1		1	SGSM2	17	2280072	Silent	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	83904	2280072	78915138	857	15374											
TAX1BP3	1497	broad.mit.edu	37	chr17	3567066	3567066	+	IGR	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gacagcatggactgctgcacGgccttctgcagcgactgccg	7	7	13	14	3	1	0	0	0	1	0	1	3	1	1	2	2	6	4	2	2	0	1			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr17:3567066G>A	ENST00000046640.3	+	0	2866				P2RX5-TAX1BP3_ENST00000550383.1_3'UTR|TAX1BP3_ENST00000225525.3_Silent_p.A117A	NM_004937.2	NP_004928.2	O60931	CTNS_HUMAN	cystinosin, lysosomal cystine transporter						adult walking behavior (GO:0007628)|ATP metabolic process (GO:0046034)|brain development (GO:0007420)|cellular amino acid metabolic process (GO:0006520)|cognition (GO:0050890)|glutathione metabolic process (GO:0006749)|grooming behavior (GO:0007625)|L-cystine transport (GO:0015811)|lens development in camera-type eye (GO:0002088)|long-term memory (GO:0007616)|visual learning (GO:0008542)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|intracellular membrane-bounded organelle (GO:0043231)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)	L-cystine transmembrane transporter activity (GO:0015184)	p.A117A(1)		NS(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(2)	10				COAD - Colon adenocarcinoma(5;0.0829)	L-Cystine(DB00138)	ACTGCTGCACGGCCTTCTGCA	0.632																																						ENST00000225525.3																			1	Substitution - coding silent(1)	p.A117A(1)	endometrium(1)	endometrium(1)	1						c.(349-351)gcC>gcT		Tax1 (human T-cell leukemia virus type I) binding protein 3							25	26	26					17																	3567066		2199	4300	6499	SO:0001628	intergenic_variant	30851				activation of Cdc42 GTPase activity|negative regulation of protein localization at cell surface|negative regulation of Wnt receptor signaling pathway|Rho protein signal transduction|Wnt receptor signaling pathway	cytoplasm|nucleus	protein C-terminus binding	g.chr17:3567066G>A	AJ222967	CCDS11031.1, CCDS32530.1	17p13	2011-06-07	2011-06-07		ENSG00000040531	ENSG00000040531			2518	protein-coding gene	gene with protein product		606272	"cystinosis, nephropathic"			9537412, 15128704	Standard	NM_004937		Approved	CTNS-LSB, PQLC4	uc002fwa.3	O60931	OTTHUMG00000090693		17.37:g.3567066G>A						RP11-48B14.2_ENST00000550383.1_3'UTR	p.A117A	NM_014604.3	NP_055419.1	O14907	TX1B3_HUMAN		COAD - Colon adenocarcinoma(5;0.0761)	4	506	-			117					D3DTJ5|Q8IZ01|Q9UNK6	Silent	SNP	ENST00000046640.3	37	c.351C>T	CCDS11031.1																																																																																				0.632	CTNS-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317696.1	NM_004937		11	21	0	0	0	1	0	11	21					A	3567066	G	A	3567066	1	1	305	0	1	0	0	0	0	0	0	0	15592	1103	39	2		2	TAX1BP3	17	3567066	IGR	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	1286994	3567066	77628144	858	15375											
PELP1	27043	broad.mit.edu	37	chr17	4575245	4575245	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagccccacgctcctcctccGtccctggctcctccacttcc	3	9	5	24	2	0	0	0	0	0	0	7	0	7	0	9	1	1	2	9	1	0	1	rs368789821		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr17:4575245G>A	ENST00000574876.1	-	16	3058	c.3041C>T	c.(3040-3042)aCg>aTg	p.T1014M	PELP1_ENST00000436683.2_Intron|PELP1_ENST00000572293.1_Missense_Mutation_p.T1064M|PELP1_ENST00000301396.4_Missense_Mutation_p.T1158M|PELP1_ENST00000269230.7_Missense_Mutation_p.T924M			Q8IZL8	PELP1_HUMAN	proline, glutamate and leucine rich protein 1	1014	Glu-rich.|Pro-rich.				cellular response to estrogen stimulus (GO:0071391)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|MLL1 complex (GO:0071339)|nucleolus (GO:0005730)|nucleus (GO:0005634)|transcriptionally active chromatin (GO:0035327)	chromatin binding (GO:0003682)|poly(A) RNA binding (GO:0044822)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	15						CTCCTCCTCCGTCCCTGGCTC	0.677																																						ENST00000301396.4																			0				breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	15						c.(3472-3474)aCg>aTg		proline, glutamate and leucine rich protein 1		G	MET/THR	1,3773		0,1,1886	15	15	15		3041	4	0	17		15	1,8205		0,1,4102	no	missense	PELP1	NM_014389.2	81	0,2,5988	AA,AG,GG		0.0122,0.0265,0.0167	benign	1014/1131	4575245	2,11978	1887	4103	5990	SO:0001583	missense	27043				transcription, DNA-dependent	cytoplasm|MLL1 complex	protein binding	g.chr17:4575245G>A		CCDS58503.1, CCDS58503.2, CCDS62038.1	17p13.2	2012-05-02	2008-02-21			ENSG00000141456			30134	protein-coding gene	gene with protein product		609455	"proline, glutamic acid and leucine rich protein 1"			11481323, 12682072	Standard	NM_014389		Approved	MNAR	uc002fyi.4	Q8IZL8		ENST00000574876.1:c.3041C>T	17.37:g.4575245G>A	ENSP00000461625:p.Thr1014Met					PELP1_ENST00000269230.7_Missense_Mutation_p.T924M|PELP1_ENST00000574876.1_Missense_Mutation_p.T1014M|PELP1_ENST00000436683.2_Intron|PELP1_ENST00000572293.1_Missense_Mutation_p.T1064M	p.T1158M			Q8IZL8	PELP1_HUMAN			16	3698	-			1014					O15450|Q5EGN3|Q6NTE6|Q96FT1|Q9BU60	Missense_Mutation	SNP	ENST00000574876.1	37	c.3473C>T	CCDS58503.1	.	.	.	.	.	.	.	.	.	.	G	5.266	0.234490	0.09969	2.65E-4	1.22E-4	ENSG00000141456	ENST00000301396;ENST00000269230	T;T	0.45276	0.9;0.94	4.98	4.01	0.46588	.	1.095300	0.06952	N	0.814837	T	0.33527	0.0866	N	0.22421	0.69	0.22552	N	0.998996	B	0.27264	0.173	B	0.26202	0.067	T	0.29822	-0.9999	10	0.48119	T	0.1	0.008	11.4727	0.50280	0.0887:0.0:0.9113:0.0	.	1014	Q8IZL8	PELP1_HUMAN	M	1158;924	ENSP00000301396:T1158M;ENSP00000269230:T924M	ENSP00000269230:T924M	T	-	2	0	AC091153.1	4521994	.	.	0.001000	0.08648	0.810000	0.45777	.	.	1.236000	0.43740	0.655000	0.94253	ACG		0.677	PELP1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000439140.2	NM_014389		3	21	0	0	0	1	0	3	21					A	4575245	G	A	4575245	3	1	305	1	0	0	0	0	1	0	0	0	11725	1145	40	1	359	1	PELP1	17	4575245	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	1008179	4575245	76619965	859	15376											
DHX33	56919	broad.mit.edu	37	chr17	5365760	5365760	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aaatgacacagctgtatttcCgaagcaaagagtctgaaatt	16	10	8	7	1	1	3	0	2	1	1	2	4	2	3	1	0	2	3	1	0	5	3			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr17:5365760C>T	ENST00000225296.3	-	3	757	c.557G>A	c.(556-558)cGg>cAg	p.R186Q	DHX33_ENST00000433302.3_Intron	NM_001199699.1|NM_020162.3	NP_001186628.1|NP_064547.2	Q9H6R0	DHX33_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 33	186	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				positive regulation of transcription from RNA polymerase I promoter (GO:0045943)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)|rDNA binding (GO:0000182)			breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						GCTGTATTTCCGAAGCAAAGA	0.458																																						ENST00000225296.3																			0				breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						c.(556-558)cGg>cAg		DEAH (Asp-Glu-Ala-His) box polypeptide 33							111	100	104					17																	5365760		2203	4300	6503	SO:0001583	missense	56919					nucleolus	ATP binding|ATP-dependent helicase activity|nucleic acid binding	g.chr17:5365760C>T	AL359945	CCDS11072.1	17p13	2003-06-13	2003-06-13	2003-06-13	ENSG00000005100	ENSG00000005100		"DEAH-boxes"	16718	protein-coding gene	gene with protein product		614405	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 33"	DDX33			Standard	NM_020162		Approved	FLJ21972, DKFZp762F2011	uc002gca.3	Q9H6R0	OTTHUMG00000102041	ENST00000225296.3:c.557G>A	17.37:g.5365760C>T	ENSP00000225296:p.Arg186Gln					DHX33_ENST00000433302.3_Intron	p.R186Q	NM_001199699.1|NM_020162.3	NP_001186628.1|NP_064547.2	Q9H6R0	DHX33_HUMAN			3	757	-			186			Helicase ATP-binding.		B4DHF9|Q4G149|Q5CZ73|Q9H5M9	Missense_Mutation	SNP	ENST00000225296.3	37	c.557G>A	CCDS11072.1	.	.	.	.	.	.	.	.	.	.	C	15.27	2.783746	0.49891	.	.	ENSG00000005100	ENST00000225296	T	0.02579	4.24	5.87	5.87	0.94306	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.116965	0.64402	D	0.000015	T	0.03053	0.0090	N	0.25890	0.77	0.80722	D	1	B	0.24823	0.112	B	0.22753	0.041	T	0.57700	-0.7766	10	0.30854	T	0.27	.	14.3963	0.67013	0.0:0.9277:0.0:0.0723	.	186	Q9H6R0	DHX33_HUMAN	Q	186	ENSP00000225296:R186Q	ENSP00000225296:R186Q	R	-	2	0	DHX33	5306484	0.991000	0.36638	1.000000	0.80357	0.719000	0.41307	2.009000	0.40903	2.778000	0.95560	0.650000	0.86243	CGG		0.458	DHX33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219826.2	NM_020162		29	75	0	0	0	1	0	29	75					T	5365760	C	T	5365760	3	4	305	1	0	0	0	0	1	0	0	0	4506	652	23	2	1606	2	DHX33	17	5365760	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	790515	5365760	75829450	860	15377											
SLC16A13	201232	broad.mit.edu	37	chr17	6941923	6941923	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctatttctgacctcgtggggCgtgtggtctccggatggctg	3	13	15	10	3	2	1	0	1	2	0	4	2	2	2	2	5	0	1	2	5	1	2			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr17:6941923C>T	ENST00000308027.6	+	3	1104	c.796C>T	c.(796-798)Cgt>Tgt	p.R266C		NM_201566.2	NP_963860.1	Q7RTY0	MOT13_HUMAN	solute carrier family 16, member 13	266						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	symporter activity (GO:0015293)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	10						CCTCGTGGGGCGTGTGGTCTC	0.602																																						ENST00000308027.6																			0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	10						c.(796-798)Cgt>Tgt		solute carrier family 16, member 13							113	103	106					17																	6941923		2203	4300	6503	SO:0001583	missense	201232					integral to membrane|plasma membrane	symporter activity	g.chr17:6941923C>T	BN000145	CCDS11085.1	17p13.1	2013-07-18	2013-07-18		ENSG00000174327	ENSG00000174327		"Solute carriers"	31037	protein-coding gene	gene with protein product	"monocarboxylic acid transporter 13"		"solute carrier family 16 (monocarboxylic acid transporters), member 13"				Standard	NM_201566		Approved	MCT13	uc002geh.3	Q7RTY0	OTTHUMG00000102089	ENST00000308027.6:c.796C>T	17.37:g.6941923C>T	ENSP00000309751:p.Arg266Cys						p.R266C	NM_201566.2	NP_963860.1	Q7RTY0	MOT13_HUMAN			3	1104	+			266					A3KMG3|A5PKU5|Q2VP92	Missense_Mutation	SNP	ENST00000308027.6	37	c.796C>T	CCDS11085.1	.	.	.	.	.	.	.	.	.	.	C	26.9	4.780339	0.90195	.	.	ENSG00000174327	ENST00000308027	T	0.60299	0.2	5.59	5.59	0.84812	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	T	0.81356	0.4805	M	0.91249	3.19	0.80722	D	1	D	0.89917	1.0	D	0.78314	0.991	D	0.85347	0.1099	10	0.87932	D	0	.	17.0863	0.86611	0.0:1.0:0.0:0.0	.	266	Q7RTY0	MOT13_HUMAN	C	266	ENSP00000309751:R266C	ENSP00000309751:R266C	R	+	1	0	SLC16A13	6882647	0.997000	0.39634	1.000000	0.80357	0.972000	0.66771	3.476000	0.53143	2.627000	0.88993	0.557000	0.71058	CGT		0.602	SLC16A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219923.2			6	107	0	0	0	1	0	6	107					T	6941923	C	T	6941923	3	4	305	1	0	0	0	0	1	0	0	0	14406	768	27	1	806	1	SLC16A13	17	6941923	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	1576163	6941923	74253287	861	15378											
ASGR2	433	broad.mit.edu	37	chr17	7005025	7005025	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acttccacccagctcgtgccCgtgccaattatctggctgag	7	10	9	15	2	1	1	0	1	1	0	3	1	2	1	4	1	3	2	4	1	2	2	rs144253358		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr17:7005025C>T	ENST00000380952.2	-	9	1069	c.805G>A	c.(805-807)Ggg>Agg	p.G269R	ASGR2_ENST00000355035.5_Missense_Mutation_p.G269R|ASGR2_ENST00000446679.2_Missense_Mutation_p.G250R|ASGR2_ENST00000254850.7_Missense_Mutation_p.G245R	NM_001181.4|NM_001201352.1|NM_080912.3	NP_001172|NP_001188281.1|NP_550434	P07307	ASGR2_HUMAN	asialoglycoprotein receptor 2	269	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				bone mineralization (GO:0030282)|cell surface receptor signaling pathway (GO:0007166)|glycoprotein metabolic process (GO:0009100)|lipid homeostasis (GO:0055088)|receptor-mediated endocytosis (GO:0006898)|regulation of protein stability (GO:0031647)	integral component of membrane (GO:0016021)	asialoglycoprotein receptor activity (GO:0004873)|carbohydrate binding (GO:0030246)			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|skin(3)|stomach(4)	18					Antihemophilic Factor(DB00025)	AGCTCGTGCCCGTGCCAATTA	0.567																																						ENST00000380952.2																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|skin(3)|stomach(4)	18						c.(805-807)Ggg>Agg		asialoglycoprotein receptor 2	Antihemophilic Factor(DB00025)	C	ARG/GLY,ARG/GLY,ARG/GLY,ARG/GLY,ARG/GLY	0,4406		0,0,2203	75	66	69		805,790,805,733,748	4.5	0.1	17	dbSNP_134	69	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense,missense	ASGR2	NM_001181.4,NM_001201352.1,NM_080912.3,NM_080913.3,NM_080914.2	125,125,125,125,125	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	269/312,264/307,269/312,245/288,250/293	7005025	1,13005	2203	4300	6503	SO:0001583	missense	433				cell surface receptor linked signaling pathway|endocytosis	focal adhesion|integral to membrane|nucleolus	asialoglycoprotein receptor activity|protein binding|sugar binding	g.chr17:7005025C>T	M11025	CCDS11088.1, CCDS32544.1, CCDS45598.1	17p	2011-08-30			ENSG00000161944	ENSG00000161944		"C-type lectin domain containing"	743	protein-coding gene	gene with protein product		108361				3863106	Standard	NM_080912		Approved	CLEC4H2	uc002ger.3	P07307	OTTHUMG00000102158	ENST00000380952.2:c.805G>A	17.37:g.7005025C>T	ENSP00000370339:p.Gly269Arg					ASGR2_ENST00000355035.5_Missense_Mutation_p.G269R|ASGR2_ENST00000254850.7_Missense_Mutation_p.G245R|ASGR2_ENST00000446679.2_Missense_Mutation_p.G250R	p.G269R	NM_001181.4|NM_001201352.1|NM_080912.3	NP_001172.1|NP_001188281.1|NP_550434.1	P07307	ASGR2_HUMAN			9	1069	-			269			C-type lectin.		A6NLV8|A8MT12|D3DTM9|D3DTN0|O00448|Q03969	Missense_Mutation	SNP	ENST00000380952.2	37	c.805G>A	CCDS32544.1	.	.	.	.	.	.	.	.	.	.	C	17.38	3.375377	0.61735	0.0	1.16E-4	ENSG00000161944	ENST00000355035;ENST00000254850;ENST00000380952;ENST00000446679	T;T;T;T	0.01165	5.24;5.32;5.24;5.29	4.54	4.54	0.55810	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	0.000000	0.44688	D	0.000426	T	0.07773	0.0195	M	0.86740	2.835	0.19300	N	0.999979	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;0.999;1.0;1.0;1.0	T	0.01786	-1.1274	10	0.87932	D	0	.	12.7091	0.57080	0.0:1.0:0.0:0.0	.	245;269;264;250;269	P07307-3;P07307;Q7Z4G9;P07307-2;D3DTN0	.;ASGR2_HUMAN;.;.;.	R	269;245;269;250	ENSP00000347140:G269R;ENSP00000254850:G245R;ENSP00000370339:G269R;ENSP00000405844:G250R	ENSP00000254850:G245R	G	-	1	0	ASGR2	6945749	0.821000	0.29204	0.098000	0.21074	0.003000	0.03518	3.941000	0.56607	2.383000	0.81215	0.644000	0.83932	GGG		0.567	ASGR2-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000220003.1	NM_080914		17	37	0	0	0	1	0	17	37					T	7005025	C	T	7005025	3	4	305	1	0	0	0	0	1	0	0	0	1040	652	23	2	134	2	ASGR2	17	7005025	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	63102	7005025	74190185	862	15379											
DNAH2	146754	broad.mit.edu	37	chr17	7682662	7682662	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atcctgtctgccctggctgcCggcctcacccatttccattt	4	13	7	17	1	2	0	1	0	1	0	4	0	4	0	6	2	2	1	6	2	0	2	rs144218986		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr17:7682662C>T	ENST00000572933.1	+	36	7103	c.5643C>T	c.(5641-5643)gcC>gcT	p.A1881A	DNAH2_ENST00000389173.2_Silent_p.A1881A			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	1881	AAA 1. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				CCCTGGCTGCCGGCCTCACCC	0.532																																						ENST00000572933.1																			0				NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189						c.(5641-5643)gcC>gcT		dynein, axonemal, heavy chain 2		C		1,4405	2.1+/-5.4	0,1,2202	87	69	75		5643	-5.3	0	17	dbSNP_134	75	0,8600		0,0,4300	no	coding-synonymous	DNAH2	NM_020877.2		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		1881/4428	7682662	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	146754				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:7682662C>T	U83570, AK128517	CCDS32551.1	17p13.1	2007-10-05	2006-09-04			ENSG00000183914		"Axonemal dyneins"	2948	protein-coding gene	gene with protein product		603333	"dynein, axonemal, heavy polypeptide 2", "dynein heavy chain domain 3"	DNHD3		9256245	Standard	XM_005256470		Approved	KIAA1503, FLJ46675	uc002giu.1	Q9P225		ENST00000572933.1:c.5643C>T	17.37:g.7682662C>T						DNAH2_ENST00000389173.2_Silent_p.A1881A	p.A1881A			Q9P225	DYH2_HUMAN			36	7103	+		all_cancers(10;4.66e-07)|Prostate(122;0.081)	1881			AAA 1 (By similarity).		A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	Silent	SNP	ENST00000572933.1	37	c.5643C>T	CCDS32551.1																																																																																				0.532	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440241.1	NM_020877		11	31	0	0	0	1	0	11	31					T	7682662	C	T	7682662	2	4	305	1	0	0	0	0	0	0	0	1	4602	639	23	2		2	DNAH2	17	7682662	Silent	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	677637	7682662	73512548	863	15380											
DNAH2	146754	broad.mit.edu	37	chr17	7700833	7700833	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atcatctctgtcccagcaagCgtcctcctatctttggtgag	7	13	8	13	1	3	1	1	1	2	0	7	1	6	1	3	1	2	1	3	1	2	2			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr17:7700833C>T	ENST00000572933.1	+	52	9525	c.8065C>T	c.(8065-8067)Cgt>Tgt	p.R2689C	DNAH2_ENST00000389173.2_Missense_Mutation_p.R2689C			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	2689					cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				TCCCAGCAAGCGTCCTCCTAT	0.532																																						ENST00000572933.1																			0				NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189						c.(8065-8067)Cgt>Tgt		dynein, axonemal, heavy chain 2							137	140	139					17																	7700833		2203	4300	6503	SO:0001583	missense	146754				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:7700833C>T	U83570, AK128517	CCDS32551.1	17p13.1	2007-10-05	2006-09-04			ENSG00000183914		"Axonemal dyneins"	2948	protein-coding gene	gene with protein product		603333	"dynein, axonemal, heavy polypeptide 2", "dynein heavy chain domain 3"	DNHD3		9256245	Standard	XM_005256470		Approved	KIAA1503, FLJ46675	uc002giu.1	Q9P225		ENST00000572933.1:c.8065C>T	17.37:g.7700833C>T	ENSP00000458355:p.Arg2689Cys					DNAH2_ENST00000389173.2_Missense_Mutation_p.R2689C	p.R2689C			Q9P225	DYH2_HUMAN			52	9525	+		all_cancers(10;4.66e-07)|Prostate(122;0.081)	2689					A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	Missense_Mutation	SNP	ENST00000572933.1	37	c.8065C>T	CCDS32551.1	.	.	.	.	.	.	.	.	.	.	C	16.65	3.183507	0.57800	.	.	ENSG00000183914	ENST00000360606;ENST00000389173	T	0.26518	1.73	5.19	5.19	0.71726	.	0.082214	0.52532	D	0.000061	T	0.38506	0.1043	M	0.85630	2.765	0.80722	D	1	B	0.13145	0.007	B	0.11329	0.006	T	0.37641	-0.9697	10	0.72032	D	0.01	.	17.6502	0.88161	0.0:1.0:0.0:0.0	.	2689	Q9P225	DYH2_HUMAN	C	2689	ENSP00000373825:R2689C	ENSP00000353818:R2689C	R	+	1	0	DNAH2	7641558	1.000000	0.71417	0.998000	0.56505	0.911000	0.54048	3.846000	0.55888	2.706000	0.92434	0.650000	0.86243	CGT		0.532	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440241.1	NM_020877		4	189	0	0	0	1	0	4	189					T	7700833	C	T	7700833	3	4	305	1	0	0	0	0	1	0	0	0	4602	768	27	1	8267	1	DNAH2	17	7700833	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	18171	7700833	73494377	864	15381											
KDM6B	23135	broad.mit.edu	37	chr17	7753465	7753465	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcgaaatcccatcacagtgAtccggggcctggcgggctcc	7	7	12	15	3	1	1	1	1	0	0	5	2	4	1	4	4	0	1	4	4	1	0			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr17:7753465A>T	ENST00000448097.2	+	13	3974	c.3643A>T	c.(3643-3645)Atc>Ttc	p.I1215F	KDM6B_ENST00000254846.5_Missense_Mutation_p.I1215F			O15054	KDM6B_HUMAN	lysine (K)-specific demethylase 6B	1215					cardiac muscle cell differentiation (GO:0055007)|cellular response to hydrogen peroxide (GO:0070301)|endothelial cell differentiation (GO:0045446)|inflammatory response (GO:0006954)|mesodermal cell differentiation (GO:0048333)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|histone demethylase activity (H3-K27 specific) (GO:0071558)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)			central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|skin(5)	37						CATCACAGTGATCCGGGGCCT	0.592																																						ENST00000254846.5																			0				central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|skin(5)	37						c.(3643-3645)Atc>Ttc		lysine (K)-specific demethylase 6B							52	47	48					17																	7753465		2201	4300	6501	SO:0001583	missense	23135				inflammatory response	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr17:7753465A>T	AB002344	CCDS32552.1	17p13.1	2011-07-01	2009-04-17	2009-04-17		ENSG00000132510		"Chromatin-modifying enzymes / K-demethylases"	29012	protein-coding gene	gene with protein product		611577	"jumonji domain containing 3", "jumonji domain containing 3, histone lysine demethylase"	JMJD3		10662545, 9205841	Standard	NM_001080424		Approved	KIAA0346	uc002giw.1	O15054		ENST00000448097.2:c.3643A>T	17.37:g.7753465A>T	ENSP00000412513:p.Ile1215Phe					KDM6B_ENST00000448097.2_Missense_Mutation_p.I1215F	p.I1215F	NM_001080424.1	NP_001073893.1	O15054	KDM6B_HUMAN			13	4032	+			1215					C9IZ40|Q96G33	Missense_Mutation	SNP	ENST00000448097.2	37	c.3643A>T		.	.	.	.	.	.	.	.	.	.	A	16.54	3.153232	0.57259	.	.	ENSG00000132510	ENST00000254846;ENST00000448097	T;T	0.75260	-0.92;-0.92	5.4	5.4	0.78164	.	0.000000	0.85682	D	0.000000	D	0.86818	0.6024	M	0.82193	2.58	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.87578	0.978;0.998	D	0.88816	0.3295	10	0.87932	D	0	-13.6214	14.7291	0.69368	1.0:0.0:0.0:0.0	.	1215;1215	O15054;O15054-1	KDM6B_HUMAN;.	F	1215	ENSP00000254846:I1215F;ENSP00000412513:I1215F	ENSP00000254846:I1215F	I	+	1	0	KDM6B	7694190	1.000000	0.71417	1.000000	0.80357	0.885000	0.51271	8.682000	0.91232	2.198000	0.70561	0.533000	0.62120	ATC		0.592	KDM6B-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000440248.1	XM_043272		9	40	0	0	0	1	0	9	40					T	7753465	A	T	7753465	3	4	305	1	0	0	0	0	1	0	0	0	8138	333	12	5	3681	5	KDM6B	17	7753465	Missense_Mutation	SNP	A	TCGA-KK-A59V-01A-11D-A29Q-08	52632	7753465	73441745	865	15382											
KDM6B	23135	broad.mit.edu	37	chr17	7756414	7756414	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taccagggccgtgtcaaggaCgagccagcctactactgcaa	11	6	11	13	2	1	0	1	0	0	0	1	2	1	1	4	2	6	1	4	2	5	3			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr17:7756414C>T	ENST00000448097.2	+	21	5038	c.4707C>T	c.(4705-4707)gaC>gaT	p.D1569D	TMEM88_ENST00000574668.1_5'Flank|TMEM88_ENST00000301599.6_5'Flank|KDM6B_ENST00000254846.5_Silent_p.D1569D			O15054	KDM6B_HUMAN	lysine (K)-specific demethylase 6B	1569					cardiac muscle cell differentiation (GO:0055007)|cellular response to hydrogen peroxide (GO:0070301)|endothelial cell differentiation (GO:0045446)|inflammatory response (GO:0006954)|mesodermal cell differentiation (GO:0048333)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|histone demethylase activity (H3-K27 specific) (GO:0071558)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)			central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|skin(5)	37						GTGTCAAGGACGAGCCAGCCT	0.627																																						ENST00000254846.5																			0				central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|skin(5)	37						c.(4705-4707)gaC>gaT		lysine (K)-specific demethylase 6B							135	113	121					17																	7756414		2203	4300	6503	SO:0001819	synonymous_variant	23135				inflammatory response	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr17:7756414C>T	AB002344	CCDS32552.1	17p13.1	2011-07-01	2009-04-17	2009-04-17		ENSG00000132510		"Chromatin-modifying enzymes / K-demethylases"	29012	protein-coding gene	gene with protein product		611577	"jumonji domain containing 3", "jumonji domain containing 3, histone lysine demethylase"	JMJD3		10662545, 9205841	Standard	NM_001080424		Approved	KIAA0346	uc002giw.1	O15054		ENST00000448097.2:c.4707C>T	17.37:g.7756414C>T						KDM6B_ENST00000448097.2_Silent_p.D1569D	p.D1569D	NM_001080424.1	NP_001073893.1	O15054	KDM6B_HUMAN			21	5096	+			1569					C9IZ40|Q96G33	Silent	SNP	ENST00000448097.2	37	c.4707C>T																																																																																					0.627	KDM6B-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000440248.1	XM_043272		7	37	0	0	0	1	0	7	37					T	7756414	C	T	7756414	2	4	305	1	0	0	0	0	0	0	0	1	8138	535	19	1		1	KDM6B	17	7756414	Silent	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	2949	7756414	73438796	866	15383											
CNTROB	116840	broad.mit.edu	37	chr17	7837803	7837803	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gggatcctctcattcctggcGctggctcagagagacgggaa	8	8	14	11	2	2	2	2	0	1	2	5	5	4	4	2	4	0	2	2	4	1	1			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr17:7837803G>A	ENST00000563694.1	+	3	1301	c.376G>A	c.(376-378)Gct>Act	p.A126T	TRAPPC1_ENST00000540486.1_5'Flank|TRAPPC1_ENST00000303731.4_5'Flank|CNTROB_ENST00000380262.3_Missense_Mutation_p.A126T|CNTROB_ENST00000380255.3_Missense_Mutation_p.A126T|CNTROB_ENST00000565740.1_Missense_Mutation_p.A126T	NM_053051.3	NP_444279.2	Q8N137	CNTRB_HUMAN	centrobin, centrosomal BRCA2 interacting protein	126					centriole replication (GO:0007099)|centrosome separation (GO:0051299)|cytokinesis (GO:0000910)	centriole (GO:0005814)|centrosome (GO:0005813)|cytoplasm (GO:0005737)	protein domain specific binding (GO:0019904)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)	25		Prostate(122;0.173)				CATTCCTGGCGCTGGCTCAGA	0.542																																						ENST00000380262.3																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)	25						c.(376-378)Gct>Act		centrobin, centrosomal BRCA2 interacting protein							80	70	73					17																	7837803		2203	4300	6503	SO:0001583	missense	116840				centriole replication|centrosome separation|cytokinesis	centriole	protein domain specific binding	g.chr17:7837803G>A	AF331638	CCDS32557.1, CCDS11126.1	17p13.1	2006-03-15				ENSG00000170037			29616	protein-coding gene	gene with protein product	"centrobin"	611425				11984006, 16275750	Standard	NM_001037144		Approved	LIP8, PP1221	uc002gjp.3	Q8N137		ENST00000563694.1:c.376G>A	17.37:g.7837803G>A	ENSP00000456335:p.Ala126Thr					CNTROB_ENST00000563694.1_Missense_Mutation_p.A126T|CNTROB_ENST00000565740.1_Missense_Mutation_p.A126T|CNTROB_ENST00000380255.3_Missense_Mutation_p.A126T	p.A126T	NM_001037144.5	NP_001032221.1	Q8N137	CNTRB_HUMAN			3	1301	+		Prostate(122;0.173)	126					A6NHQ1|Q331K3|Q69YV7|Q8NCB8|Q8WXV3|Q96CQ7|Q9C060	Missense_Mutation	SNP	ENST00000563694.1	37	c.376G>A	CCDS11126.1	.	.	.	.	.	.	.	.	.	.	G	6.482	0.457043	0.12283	.	.	ENSG00000170037	ENST00000380262;ENST00000380255	T;T	0.41400	1.59;1.0	5.16	-0.564	0.11774	.	0.633514	0.14648	N	0.306757	T	0.12646	0.0307	N	0.01874	-0.695	0.09310	N	1	B;B;B	0.06786	0.0;0.001;0.001	B;B;B	0.06405	0.002;0.002;0.001	T	0.27739	-1.0065	10	0.14252	T	0.57	-2.7139	4.1799	0.10370	0.4699:0.1785:0.3516:0.0	.	126;126;126	Q8N137-3;Q8N137;Q8N137-2	.;CNTRB_HUMAN;.	T	126	ENSP00000369614:A126T;ENSP00000369605:A126T	ENSP00000369605:A126T	A	+	1	0	CNTROB	7778528	0.001000	0.12720	0.041000	0.18516	0.504000	0.33889	0.214000	0.17541	0.060000	0.16281	-0.137000	0.14449	GCT		0.542	CNTROB-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000421372.1	NM_053051		13	26	0	0	0	1	0	13	26					A	7837803	G	A	7837803	3	1	305	1	0	0	0	0	1	0	0	0	3651	1087	38	1	386	1	CNTROB	17	7837803	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	81389	7837803	73357407	867	15384											
C17orf68	80169	broad.mit.edu	37	chr17	8132064	8132064	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cctcaagttgggctccaggcCctgcaaactgcaagaccact	10	7	9	15	0	1	1	1	0	0	1	2	1	2	1	4	2	3	4	4	2	3	1			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr17:8132064C>A	ENST00000315684.8	-	21	3375	c.3368G>T	c.(3367-3369)gGg>gTg	p.G1123V		NM_025099.5	NP_079375.3	Q2NKJ3	CTC1_HUMAN	CTS telomere maintenance complex component 1	1123					bone marrow development (GO:0048539)|cellular response to DNA damage stimulus (GO:0006974)|hematopoietic stem cell proliferation (GO:0071425)|multicellular organism growth (GO:0035264)|positive regulation of DNA replication (GO:0045740)|positive regulation of fibroblast proliferation (GO:0048146)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|replicative senescence (GO:0090399)|spleen development (GO:0048536)|telomere maintenance (GO:0000723)|telomere maintenance via telomere lengthening (GO:0010833)|thymus development (GO:0048538)	nuclear chromosome, telomeric region (GO:0000784)|nucleus (GO:0005634)|Stn1-Ten1 complex (GO:0070188)	single-stranded DNA binding (GO:0003697)			NS(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(8)|ovary(1)|skin(4)	29						GGCTCCAGGCCCTGCAAACTG	0.552																																						ENST00000315684.8																			0				NS(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(8)|ovary(1)|skin(4)	29						c.(3367-3369)gGg>gTg		CTS telomere maintenance complex component 1							52	55	54					17																	8132064		2013	4179	6192	SO:0001583	missense	80169				positive regulation of DNA replication|telomere maintenance	Stn1-Ten1 complex	protein binding|single-stranded DNA binding	g.chr17:8132064C>A	AL831955	CCDS42259.1	17p13.1	2011-02-21	2011-02-21	2011-02-21	ENSG00000178971	ENSG00000178971			26169	protein-coding gene	gene with protein product	"conserved telomere maintenance component 1", "alpha accessory factor 132", "conserved telomere capping protein 1"	613129	"tmp494178", "chromosome 17 open reading frame 68"	C17orf68		19854130, 19854131	Standard	NM_025099		Approved	FLJ22170, AAF132	uc002gkq.4	Q2NKJ3		ENST00000315684.8:c.3368G>T	17.37:g.8132064C>A	ENSP00000313759:p.Gly1123Val						p.G1123V	NM_025099.5	NP_079375.3	Q2NKJ3	CTC1_HUMAN			21	3375	-			1123					B3KR66|C9JEX5|Q1PCD1|Q2TBE3|Q8N3S6|Q9H6L0	Missense_Mutation	SNP	ENST00000315684.8	37	c.3368G>T	CCDS42259.1	.	.	.	.	.	.	.	.	.	.	C	10.28	1.306563	0.23736	.	.	ENSG00000178971	ENST00000315684	D	0.87966	-2.32	5.34	4.38	0.52667	.	0.253577	0.39274	N	0.001409	D	0.86431	0.5931	M	0.69823	2.125	0.28107	N	0.931178	P	0.51351	0.944	P	0.44897	0.463	T	0.82448	-0.0452	10	0.72032	D	0.01	-4.8454	9.9469	0.41613	0.0:0.9063:0.0:0.0937	.	1123	Q2NKJ3	CTC1_HUMAN	V	1123	ENSP00000313759:G1123V	ENSP00000313759:G1123V	G	-	2	0	CTC1	8072789	0.002000	0.14202	0.059000	0.19551	0.469000	0.32828	1.258000	0.32944	1.277000	0.44412	0.655000	0.94253	GGG		0.552	CTC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000442012.1	NM_025099		19	32	1	0	3.62473e-10	1	3.76027e-10	19	32					A	8132064	C	A	8132064	3	1	305	1	0	0	0	0	1	0	0	0	1876	623	22	5	297	5	C17orf68	17	8132064	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	294261	8132064	73063146	868	15385											
ARHGEF15	22899	broad.mit.edu	37	chr17	8215392	8215392	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ccttcctgcagcaacaccccCcacgcagaagccccctcgga	9	4	7	21	2	0	1	0	0	0	1	2	2	1	2	7	1	4	3	7	1	2	1			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr17:8215392C>T	ENST00000361926.3	+	2	145	c.35C>T	c.(34-36)cCc>cTc	p.P12L	ARHGEF15_ENST00000421050.1_Missense_Mutation_p.P12L	NM_173728.3	NP_776089.2	O94989	ARHGF_HUMAN	Rho guanine nucleotide exchange factor (GEF) 15	12	Pro-rich.				negative regulation of synapse maturation (GO:2000297)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of stress fiber assembly (GO:0051496)|regulation of catalytic activity (GO:0050790)|retina vasculature morphogenesis in camera-type eye (GO:0061299)	cytoplasm (GO:0005737)|dendrite (GO:0030425)	GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|endometrium(9)|large_intestine(5)|lung(11)|ovary(5)|prostate(3)|skin(2)|urinary_tract(1)	37						GCAACACCCCCCACGCAGAAG	0.637																																						ENST00000361926.3																			0				breast(1)|endometrium(9)|large_intestine(5)|lung(11)|ovary(5)|prostate(3)|skin(2)|urinary_tract(1)	37						c.(34-36)cCc>cTc		Rho guanine nucleotide exchange factor (GEF) 15							67	72	70					17																	8215392		2203	4300	6503	SO:0001583	missense	22899				negative regulation of synapse maturation|regulation of Rho protein signal transduction	dendrite|intracellular	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	g.chr17:8215392C>T	AB020722	CCDS11139.1	17p13.1	2011-11-16			ENSG00000198844	ENSG00000198844		"Rho guanine nucleotide exchange factors"	15590	protein-coding gene	gene with protein product	"Rho guanine exchange factor (GEF) 15"	608504				10048485	Standard	NM_173728		Approved	KIAA0915, Vsm-RhoGEF, ARGEF15, FLJ13791, MGC44868	uc002glc.3	O94989	OTTHUMG00000108187	ENST00000361926.3:c.35C>T	17.37:g.8215392C>T	ENSP00000355026:p.Pro12Leu					ARHGEF15_ENST00000421050.1_Missense_Mutation_p.P12L	p.P12L	NM_173728.3	NP_776089.2	O94989	ARHGF_HUMAN			2	145	+			12			Pro-rich.		A8K6G1|Q8N449|Q9H8B4	Missense_Mutation	SNP	ENST00000361926.3	37	c.35C>T	CCDS11139.1	.	.	.	.	.	.	.	.	.	.	C	13.03	2.114810	0.37339	.	.	ENSG00000198844	ENST00000361926;ENST00000421050	T;T	0.81330	-1.48;-1.48	4.76	4.76	0.60689	.	0.000000	0.47093	D	0.000249	D	0.83198	0.5202	L	0.29908	0.895	0.40696	D	0.982444	D;D	0.89917	1.0;1.0	D;D	0.80764	0.994;0.994	D	0.85364	0.1109	10	0.87932	D	0	-12.5731	13.1962	0.59740	0.0:1.0:0.0:0.0	.	12;12	D3DTR7;O94989	.;ARHGF_HUMAN	L	12	ENSP00000355026:P12L;ENSP00000412505:P12L	ENSP00000355026:P12L	P	+	2	0	ARHGEF15	8156117	0.999000	0.42202	1.000000	0.80357	0.989000	0.77384	2.235000	0.43044	2.491000	0.84063	0.650000	0.86243	CCC		0.637	ARHGEF15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226993.2	NM_173728		10	85	0	0	0	1	0	10	85					T	8215392	C	T	8215392	3	4	305	1	0	0	0	0	1	0	0	0	898	623	22	3	37	3	ARHGEF15	17	8215392	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	83328	8215392	72979818	869	15386											
NTN1	9423	broad.mit.edu	37	chr17	9066240	9066240	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	actgtcgccacaacaccgccGgccgccactgccattactgc	8	6	8	19	4	0	0	0	0	0	0	1	0	0	0	6	1	4	0	6	1	2	1			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr17:9066240G>A	ENST00000173229.2	+	3	1236	c.1129G>A	c.(1129-1131)Ggc>Agc	p.G377S	NTN1_ENST00000538852.1_Missense_Mutation_p.G377S|NTN1_ENST00000546090.1_Missense_Mutation_p.G377S	NM_004822.2	NP_004813.2	O95631	NET1_HUMAN	netrin 1	377	Laminin EGF-like 2. {ECO:0000255|PROSITE- ProRule:PRU00460}.				anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|establishment of nucleus localization (GO:0040023)|inner ear morphogenesis (GO:0042472)|mammary gland duct morphogenesis (GO:0060603)|negative regulation of axon extension (GO:0030517)|neuron migration (GO:0001764)|positive regulation of axon extension (GO:0045773)|positive regulation of cell proliferation (GO:0008284)|regulation of cell migration (GO:0030334)|single organismal cell-cell adhesion (GO:0016337)	basement membrane (GO:0005604)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)			NTN1/ACLY(2)	central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|lung(5)	13						CAACACCGCCGGCCGCCACTG	0.647																																						ENST00000173229.2																		NTN1/ACLY(2)	0				central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|lung(5)	13						c.(1129-1131)Ggc>Agc		netrin 1							28	22	24					17																	9066240		2203	4300	6503	SO:0001583	missense	9423				apoptosis|axon guidance		protein binding	g.chr17:9066240G>A	U75586	CCDS11148.1	17p13-p12	2013-03-01			ENSG00000065320	ENSG00000065320		"Netrins"	8029	protein-coding gene	gene with protein product	"Netrin-1"	601614				9950216	Standard	NM_004822		Approved	NTN1L	uc002glw.4	O95631	OTTHUMG00000130257	ENST00000173229.2:c.1129G>A	17.37:g.9066240G>A	ENSP00000173229:p.Gly377Ser					NTN1_ENST00000546090.1_Missense_Mutation_p.G377S|NTN1_ENST00000538852.1_Missense_Mutation_p.G377S	p.G377S	NM_004822.2	NP_004813.2	O95631	NET1_HUMAN			3	1236	+			377			Laminin EGF-like 2.		E9KL51	Missense_Mutation	SNP	ENST00000173229.2	37	c.1129G>A	CCDS11148.1	.	.	.	.	.	.	.	.	.	.	G	35	5.506838	0.96386	.	.	ENSG00000065320	ENST00000173229;ENST00000538852;ENST00000546090	D;D;D	0.90385	-2.66;-2.66;-2.66	4.89	4.89	0.63831	EGF-like, laminin (4);	0.000000	0.85682	D	0.000000	D	0.97892	0.9307	H	0.99825	4.815	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	D	0.99862	1.1084	10	0.87932	D	0	.	18.4101	0.90549	0.0:0.0:1.0:0.0	.	377	O95631	NET1_HUMAN	S	377	ENSP00000173229:G377S;ENSP00000443259:G377S;ENSP00000441611:G377S	ENSP00000173229:G377S	G	+	1	0	NTN1	9006965	1.000000	0.71417	0.973000	0.42090	0.982000	0.71751	7.478000	0.81082	2.437000	0.82529	0.650000	0.86243	GGC		0.647	NTN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252583.1			5	18	0	0	0	1	0	5	18					A	9066240	G	A	9066240	3	1	305	1	0	0	0	0	1	0	0	0	10700	1116	39	2	1135	2	NTN1	17	9066240	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	850848	9066240	72128970	870	15387											
RICH2	9912	broad.mit.edu	37	chr17	12888013	12888013	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcaggggtactccttggcctCgggccagctctccccagctg	4	9	12	16	1	2	0	1	0	1	0	5	0	3	0	5	4	3	3	5	4	1	2			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr17:12888013C>T	ENST00000379672.5	+	20	2405	c.2105C>T	c.(2104-2106)tCg>tTg	p.S702L	ARHGAP44_ENST00000262444.9_Missense_Mutation_p.S702L|ARHGAP44_ENST00000340825.3_Missense_Mutation_p.S696L	NM_014859.4	NP_055674.4	Q17R89	RHG44_HUMAN	Rho GTPase activating protein 44	702					exocytosis (GO:0006887)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytosol (GO:0005829)|endosome (GO:0005768)|leading edge membrane (GO:0031256)|synapse (GO:0045202)	GTPase activator activity (GO:0005096)|phospholipid binding (GO:0005543)			NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(7)|skin(1)|urinary_tract(1)	31						TCCTTGGCCTCGGGCCAGCTC	0.652																																						ENST00000379672.5																			0				NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(7)|skin(1)|urinary_tract(1)	31						c.(2104-2106)tCg>tTg		Rho GTPase activating protein 44							26	30	29					17																	12888013		1939	4141	6080	SO:0001583	missense	9912				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	g.chr17:12888013C>T		CCDS45616.1	17p12	2011-06-29			ENSG00000006740	ENSG00000006740		"Rho GTPase activating proteins"	29096	protein-coding gene	gene with protein product						19273615	Standard	NM_014859		Approved	KIAA0672, RICH-2, RICH2	uc002gnr.4	Q17R89	OTTHUMG00000058765	ENST00000379672.5:c.2105C>T	17.37:g.12888013C>T	ENSP00000368994:p.Ser702Leu					ARHGAP44_ENST00000262444.9_Missense_Mutation_p.S702L|ARHGAP44_ENST00000340825.3_Missense_Mutation_p.S696L	p.S702L	NM_014859.4	NP_055674.4	Q17R89	RHG44_HUMAN			20	2405	+			702					A6NCP5|A8MQB2|O75160|Q7Z5Z7|Q9Y4Q4	Missense_Mutation	SNP	ENST00000379672.5	37	c.2105C>T	CCDS45616.1	.	.	.	.	.	.	.	.	.	.	C	20.5	4.004844	0.74932	.	.	ENSG00000006740	ENST00000379672;ENST00000544416;ENST00000340825;ENST00000262444	T;T;T	0.64085	2.1;2.07;-0.08	5.37	5.37	0.77165	.	0.139728	0.50627	D	0.000116	T	0.59569	0.2203	N	0.19112	0.55	0.41415	D	0.987762	P;P;D;P	0.62365	0.553;0.826;0.991;0.553	B;B;P;B	0.52109	0.079;0.255;0.69;0.079	T	0.65356	-0.6188	10	0.62326	D	0.03	.	16.6075	0.84834	0.0:1.0:0.0:0.0	.	696;160;358;702	A6NCP5;E7ERK8;F5H6L3;Q17R89	.;.;.;RHG44_HUMAN	L	702;358;696;160	ENSP00000368994:S702L;ENSP00000342566:S696L;ENSP00000262444:S160L	ENSP00000262444:S160L	S	+	2	0	ARHGAP44	12828738	1.000000	0.71417	0.920000	0.36463	0.921000	0.55340	5.292000	0.65673	2.511000	0.84671	0.555000	0.69702	TCG		0.652	ARHGAP44-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000441566.1	NM_014859		10	27	0	0	0	1	0	10	27					T	12888013	C	T	12888013	3	4	305	1	0	0	0	0	1	0	0	0	13357	893	31	2	2183	2	RICH2	17	12888013	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	3821773	12888013	68307197	871	15388											
RAI1	10743	broad.mit.edu	37	chr17	17698444	17698444	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccactacagcagcttttgacTgtttcccggacacaaccgct	9	10	7	15	2	0	1	0	1	0	0	1	2	1	2	3	1	4	4	3	1	2	4			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr17:17698444T>C	ENST00000353383.1	+	3	2651	c.2182T>C	c.(2182-2184)Tgt>Cgt	p.C728R	RAI1_ENST00000261641.6_Missense_Mutation_p.C728R	NM_030665.3	NP_109590.3	Q7Z5J4	RAI1_HUMAN	retinoic acid induced 1	728					circadian regulation of gene expression (GO:0032922)|negative regulation of multicellular organism growth (GO:0040015)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	enhancer binding (GO:0035326)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(5)|urinary_tract(7)	48				READ - Rectum adenocarcinoma(1115;0.0276)		AGCTTTTGACTGTTTCCCGGA	0.597																																						ENST00000353383.1																			0				breast(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(5)|urinary_tract(7)	48						c.(2182-2184)Tgt>Cgt		retinoic acid induced 1							64	66	65					17																	17698444		2203	4300	6503	SO:0001583	missense	10743					cytoplasm|nucleus	zinc ion binding	g.chr17:17698444T>C	AJ230819	CCDS11188.1	17p11.2	2011-02-08			ENSG00000108557	ENSG00000108557			9834	protein-coding gene	gene with protein product		607642	"Smith-Magenis syndrome chromosome region"	SMCR		10036180	Standard	NM_030665		Approved	DKFZP434A139, SMS, KIAA1820, MGC12824	uc002grm.3	Q7Z5J4	OTTHUMG00000059314	ENST00000353383.1:c.2182T>C	17.37:g.17698444T>C	ENSP00000323074:p.Cys728Arg					RAI1_ENST00000261641.6_Missense_Mutation_p.C728R	p.C728R	NM_030665.3	NP_109590.3	Q7Z5J4	RAI1_HUMAN		READ - Rectum adenocarcinoma(1115;0.0276)	3	2651	+			728					Q8N3B4|Q8ND08|Q8WU64|Q96JK5|Q9H1C1|Q9H1C2|Q9UF69	Missense_Mutation	SNP	ENST00000353383.1	37	c.2182T>C	CCDS11188.1	.	.	.	.	.	.	.	.	.	.	T	14.32	2.501496	0.44455	.	.	ENSG00000108557	ENST00000353383;ENST00000395774;ENST00000395776;ENST00000355970;ENST00000261641;ENST00000315321	T;T;T	0.73258	-0.73;2.07;-0.14	5.55	5.55	0.83447	.	0.063358	0.64402	D	0.000003	T	0.79851	0.4517	L	0.60455	1.87	0.80722	D	1	D	0.71674	0.998	D	0.78314	0.991	T	0.80471	-0.1368	10	0.52906	T	0.07	.	10.8607	0.46825	0.1407:0.0:0.0:0.8593	.	728	Q7Z5J4	RAI1_HUMAN	R	728;728;728;728;728;680	ENSP00000323074:C728R;ENSP00000379120:C728R;ENSP00000261641:C728R	ENSP00000261641:C728R	C	+	1	0	RAI1	17639169	1.000000	0.71417	1.000000	0.80357	0.424000	0.31475	3.680000	0.54641	2.117000	0.64856	0.459000	0.35465	TGT		0.597	RAI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131775.1	NM_030665		34	93	0	0	0	1	0	34	93					C	17698444	T	C	17698444	3	2	305	1	0	0	0	0	1	0	0	0	13007	1580	55	4	2184	4	RAI1	17	17698444	Missense_Mutation	SNP	T	TCGA-KK-A59V-01A-11D-A29Q-08	4810431	17698444	63496766	872	15389											
ALKBH5	54890	broad.mit.edu	37	chr17	18088302	18088302	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cagtgctttccctgccggtgCgcaggggaagcgtgactgtg	5	9	16	11	3	0	1	0	1	0	0	1	2	1	2	2	3	4	2	2	3	1	1			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr17:18088302C>T	ENST00000399138.4	+	1	750	c.745C>T	c.(745-747)Cgc>Tgc	p.R249C	ALKBH5_ENST00000541285.1_Intron|RP11-258F1.1_ENST00000577847.1_RNA|RP11-258F1.1_ENST00000583062.1_RNA	NM_017758.3	NP_060228.3	Q6P6C2	ALKB5_HUMAN	AlkB family member 5, RNA demethylase	249					cell differentiation (GO:0030154)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|oxidative single-stranded RNA demethylation (GO:0035553)|response to hypoxia (GO:0001666)|spermatogenesis (GO:0007283)	nuclear speck (GO:0016607)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|oxidative RNA demethylase activity (GO:0035515)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(2)|lung(2)|ovary(1)|skin(1)	10	all_neural(463;0.228)					CCTGCCGGTGCGCAGGGGAAG	0.637																																					Ovarian(166;154 1953 40235 46283 46309)	ENST00000399138.4																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(2)|lung(2)|ovary(1)|skin(1)	10						c.(745-747)Cgc>Tgc		alkB, alkylation repair homolog 5 (E. coli)							61	70	67					17																	18088302		2038	4179	6217	SO:0001583	missense	54890					integral to membrane	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr17:18088302C>T	AK000315	CCDS42272.1	17p11.2	2014-07-23	2014-07-23	2006-02-09	ENSG00000091542	ENSG00000091542	1.14.11.-	"Alkylation repair homologs"	25996	protein-coding gene	gene with protein product		613303	"oxoglutarate and iron-dependent oxygenase domain containing", "alkB, alkylation repair homolog 5 (E. coli)"	OFOXD1		11997338, 24778178	Standard	NM_017758		Approved	FLJ20308	uc010cpw.3	Q6P6C2	OTTHUMG00000059397	ENST00000399138.4:c.745C>T	17.37:g.18088302C>T	ENSP00000382091:p.Arg249Cys					ALKBH5_ENST00000541285.1_Intron	p.R249C	NM_017758.3	NP_060228.3	Q6P6C2	ALKB5_HUMAN			1	750	+	all_neural(463;0.228)		249					B4DVJ4|D3DXC6|Q9NXD6	Missense_Mutation	SNP	ENST00000399138.4	37	c.745C>T	CCDS42272.1	.	.	.	.	.	.	.	.	.	.	C	19.68	3.872547	0.72180	.	.	ENSG00000091542	ENST00000261650;ENST00000500385;ENST00000399138	T	0.12465	2.68	5.55	3.42	0.39159	.	0.230719	0.41712	D	0.000838	T	0.12220	0.0297	L	0.40543	1.245	0.47737	D	0.999505	D	0.63880	0.993	B	0.43916	0.436	T	0.00749	-1.1582	10	0.72032	D	0.01	-4.5526	8.4502	0.32866	0.2127:0.7004:0.0:0.0869	.	249	Q6P6C2-2	.	C	249;238;249	ENSP00000382091:R249C	ENSP00000261650:R249C	R	+	1	0	ALKBH5	18029027	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.811000	0.47986	2.619000	0.88677	0.655000	0.94253	CGC		0.637	ALKBH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132069.3	NM_017758		48	118	0	0	0	1	0	48	118					T	18088302	C	T	18088302	3	4	305	1	0	0	0	0	1	0	0	0	530	768	27	1	747	1	ALKBH5	17	18088302	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	389858	18088302	63106908	873	15390											
FLII	2314	broad.mit.edu	37	chr17	18150040	18150042	+	In_Frame_Del	DEL	CTC	CTC	-																															aagtcctcctctggctgcttCtcctctgcctcagcggttgc																										TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr17:18150040_18150042delCTC	ENST00000327031.4	-	23	3142_3144	c.2917_2919delGAG	c.(2917-2919)gagdel	p.E973del	FLII_ENST00000379450.4_In_Frame_Del_p.E887del|FLII_ENST00000545457.2_In_Frame_Del_p.E918del|FLII_ENST00000579294.1_In_Frame_Del_p.E962del|FLII_ENST00000578558.1_Intron	NM_002018.3	NP_002009.1	Q13045	FLII_HUMAN	flightless I homolog (Drosophila)	973	Glu-rich.				multicellular organismal development (GO:0007275)|muscle contraction (GO:0006936)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|microtubule organizing center (GO:0005815)|nucleus (GO:0005634)	actin binding (GO:0003779)			central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32	all_neural(463;0.228)					ctggctgcttctcctctgcctca	0.571																																						ENST00000327031.4																			0				central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32						c.(2917-2919)del		flightless I homolog (Drosophila)																																				SO:0001651	inframe_deletion	2314				multicellular organismal development|muscle contraction|regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|nucleus	actin binding	g.chr17:18150040_18150042delCTC	U01184	CCDS11192.1, CCDS58521.1, CCDS58522.1	17p11.2	2008-07-18	2001-11-28		ENSG00000177731	ENSG00000177731			3750	protein-coding gene	gene with protein product		600362	"flightless I (Drosophila) homolog"			7825574	Standard	NM_002018		Approved	FLI, FLIL, Fli1, MGC39265	uc002gsr.2	Q13045	OTTHUMG00000059389	ENST00000327031.4:c.2917_2919delGAG	17.37:g.18150043_18150045delCTC	ENSP00000324573:p.Glu973del					FLII_ENST00000579294.1_In_Frame_Del_p.E962del|FLII_ENST00000578558.1_Intron|FLII_ENST00000379450.4_In_Frame_Del_p.E887del|FLII_ENST00000545457.2_In_Frame_Del_p.E918del	p.E973del	NM_002018.3	NP_002009.1	Q13045	FLII_HUMAN			23	3142_3144	-	all_neural(463;0.228)		973			Glu-rich.		B4DIL0|F5H407|J3QLG3	In_Frame_Del	DEL	ENST00000327031.4	37	c.2917_2919delGAG	CCDS11192.1																																																																																				0.571	FLII-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132032.2	NM_002018		8	17						8	17	---	---	---	---	-	18150042	CTC	-	18150040	7	5	305	1	0	1	0	1	0	0	0	0	5925	912	32	0	922	0	FLII	17	18150040	In_Frame_Del	DEL	CTC	TCGA-KK-A59V-01A-11D-A29Q-08	61738	18150040	63045170	874	15391											
SMCR7	125170	broad.mit.edu	37	chr17	18167396	18167396	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgctgggccgtgcgcaggaCgcagcttgagttctgccccc	4	8	14	15	3	1	1	0	1	1	0	1	2	1	2	3	2	4	5	3	2	0	2	rs199876054	byFrequency	TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr17:18167396C>T	ENST00000323019.4	+	4	894	c.683C>T	c.(682-684)aCg>aTg	p.T228M	MIEF2_ENST00000577216.1_3'UTR|MIEF2_ENST00000395704.4_Silent_p.D203D|MIEF2_ENST00000395706.2_Missense_Mutation_p.T239M	NM_001144900.1|NM_139162.3	NP_001138372.1|NP_631901.2	Q96C03	MID49_HUMAN	mitochondrial elongation factor 2	228					mitochondrion organization (GO:0007005)|positive regulation of mitochondrial fission (GO:0090141)|positive regulation of protein homooligomerization (GO:0032464)|positive regulation of protein targeting to membrane (GO:0090314)	integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)											GTGCGCAGGACGCAGCTTGAG	0.716													C|||	2	0.000399361	0.0015	0	5008	,	,		15214	0		0	False		,,,				2504	0					ENST00000323019.4																			0				breast(1)|central_nervous_system(1)|endometrium(3)|lung(4)	9						c.(682-684)aCg>aTg									8	8	8					17																	18167396		2147	4216	6363	SO:0001583	missense	0					integral to membrane	protein binding	g.chr17:18167396C>T	BC014973	CCDS11193.1, CCDS45624.1, CCDS45625.1	17p11.2	2013-09-23	2013-09-23	2013-09-23	ENSG00000177427	ENSG00000177427			17920	protein-coding gene	gene with protein product		615498	"Smith-Magenis syndrome chromosome region, candidate 7"	SMCR7		11997338, 21508961	Standard	NM_001144900		Approved	MGC23130, MiD49	uc010vxq.2	Q96C03	OTTHUMG00000059392	ENST00000323019.4:c.683C>T	17.37:g.18167396C>T	ENSP00000323591:p.Thr228Met					SMCR7_ENST00000395704.4_Silent_p.D203D|SMCR7_ENST00000577216.1_3'UTR|SMCR7_ENST00000395706.2_Missense_Mutation_p.T239M	p.T228M	NM_001144900.1|NM_139162.3	NP_001138372.1|NP_631901.2	Q96C03	SMCR7_HUMAN			4	894	+	all_neural(463;0.228)		228					J3KPT3|Q6ZRD4|Q96N07	Missense_Mutation	SNP	ENST00000323019.4	37	c.683C>T	CCDS11193.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	15.75	2.924792	0.52759	.	.	ENSG00000177427	ENST00000323019;ENST00000395706	T;T	0.12361	2.69;2.69	5.32	5.32	0.75619	.	0.310296	0.35615	N	0.003087	T	0.33789	0.0875	.	.	.	0.38512	D	0.948494	D	0.89917	1.0	D	0.63283	0.913	T	0.12268	-1.0554	9	0.59425	D	0.04	-27.2907	14.2475	0.65997	0.0:0.9263:0.0:0.0737	.	228	Q96C03	MID49_HUMAN	M	228;239	ENSP00000323591:T228M;ENSP00000379057:T239M	ENSP00000323591:T228M	T	+	2	0	SMCR7	18108121	0.941000	0.31946	1.000000	0.80357	0.543000	0.35085	1.767000	0.38501	2.484000	0.83849	0.563000	0.77884	ACG		0.716	MIEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132060.2	NM_139162		4	6	0	0	0	1	0	4	6					T	18167396	C	T	18167396	3	4	305	1	0	0	0	0	1	0	0	0	14790	536	19	1	730	1	SMCR7	17	18167396	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	17356	18167396	63027814	875	15392											
SLC5A10	125206	broad.mit.edu	37	chr17	18874469	18874469	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	acccccacacaggggacctgCcgtggaccgggatgaccttt	8	6	12	15	2	0	1	0	1	0	0	0	4	0	4	6	4	1	0	6	4	0	1			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr17:18874469C>T	ENST00000395645.3	+	8	802	c.784C>T	c.(784-786)Ccg>Tcg	p.P262S	FAM83G_ENST00000585154.2_3'UTR|SLC5A10_ENST00000395647.2_Missense_Mutation_p.P262S|FAM83G_ENST00000388995.6_3'UTR|SLC5A10_ENST00000317977.6_Missense_Mutation_p.P179S|FAM83G_ENST00000345041.4_3'UTR|SLC5A10_ENST00000417251.2_Missense_Mutation_p.P262S|SLC5A10_ENST00000395642.1_Missense_Mutation_p.P179S|SLC5A10_ENST00000395643.2_Missense_Mutation_p.P235S	NM_001042450.2	NP_001035915.1	A0PJK1	SC5AA_HUMAN	solute carrier family 5 (sodium/sugar cotransporter), member 10	262					sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(3)|ovary(3)|prostate(3)|skin(3)	24						AGGGGACCTGCCGTGGACCGG	0.637																																						ENST00000317977.6																			0				central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(3)|ovary(3)|prostate(3)|skin(3)	24						c.(535-537)Ccg>Tcg		solute carrier family 5 (sodium/sugar cotransporter), member 10							157	106	123					17																	18874469		2203	4300	6503	SO:0001583	missense	125206				sodium ion transport|transmembrane transport	integral to membrane	transporter activity	g.chr17:18874469C>T		CCDS11201.2, CCDS42275.1, CCDS59277.1, CCDS59278.1, CCDS74008.1	17p11.2	2013-07-19	2013-07-19		ENSG00000154025	ENSG00000154025		"Solute carriers"	23155	protein-coding gene	gene with protein product			"solute carrier family 5 (sodium/glucose cotransporter), member 10"				Standard	NM_152351		Approved	SGLT5	uc002gut.2	A0PJK1	OTTHUMG00000178143	ENST00000395645.3:c.784C>T	17.37:g.18874469C>T	ENSP00000379007:p.Pro262Ser					SLC5A10_ENST00000395643.2_Missense_Mutation_p.P235S|FAM83G_ENST00000345041.4_3'UTR|SLC5A10_ENST00000395645.3_Missense_Mutation_p.P262S|FAM83G_ENST00000388995.6_3'UTR|SLC5A10_ENST00000395647.2_Missense_Mutation_p.P262S|SLC5A10_ENST00000395642.1_Missense_Mutation_p.P179S|SLC5A10_ENST00000417251.2_Missense_Mutation_p.P262S|FAM83G_ENST00000585154.2_3'UTR	p.P179S			A0PJK1	SC5AA_HUMAN			7	1106	+			262					A8MUC9|B4DPI0|B7WPR4|Q6P5X0|Q8IXM4|Q96LQ1	Missense_Mutation	SNP	ENST00000395645.3	37	c.535C>T	CCDS42275.1	.	.	.	.	.	.	.	.	.	.	C	35	5.461708	0.96240	.	.	ENSG00000154025	ENST00000317977;ENST00000395647;ENST00000395642;ENST00000417251;ENST00000395645;ENST00000395643	D;D;D;D;D;D	0.88818	-2.43;-2.43;-2.43;-2.43;-2.43;-2.43	5.97	5.97	0.96955	.	0.000000	0.85682	D	0.000000	D	0.96340	0.8806	M	0.94063	3.49	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0	D	0.96512	0.9379	10	0.87932	D	0	.	20.428	0.99075	0.0:1.0:0.0:0.0	.	262;235;262;262;179	B4DPI0;A0PJK1-2;A0PJK1;A0PJK1-4;A0PJK1-3	.;.;SC5AA_HUMAN;.;.	S	179;262;179;262;262;235	ENSP00000324346:P179S;ENSP00000379008:P262S;ENSP00000379004:P179S;ENSP00000401875:P262S;ENSP00000379007:P262S;ENSP00000379005:P235S	ENSP00000324346:P179S	P	+	1	0	SLC5A10	18815194	1.000000	0.71417	0.937000	0.37676	0.969000	0.65631	7.794000	0.85869	2.837000	0.97791	0.655000	0.94253	CCG		0.637	SLC5A10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132129.2	NM_152351		21	51	0	0	0	1	0	21	51					T	18874469	C	T	18874469	3	4	305	1	0	0	0	0	1	0	0	0	14662	739	26	3	814	3	SLC5A10	17	18874469	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	707073	18874469	62320741	876	15393											
SLC5A10	125206	broad.mit.edu	37	chr17	18916805	18916805	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tccaacatcgcctaccccaaGctggtcatggaactgatgcc	10	8	8	15	1	1	1	1	1	0	0	3	2	2	2	5	2	5	1	5	2	4	1			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr17:18916805G>A	ENST00000395645.3	+	10	1083	c.1065G>A	c.(1063-1065)aaG>aaA	p.K355K	SLC5A10_ENST00000417251.2_Intron|SLC5A10_ENST00000395642.1_Silent_p.K288K|SLC5A10_ENST00000395643.2_Silent_p.K328K|SLC5A10_ENST00000395647.2_Silent_p.K371K|SLC5A10_ENST00000317977.6_Silent_p.K288K	NM_001042450.2	NP_001035915.1	A0PJK1	SC5AA_HUMAN	solute carrier family 5 (sodium/sugar cotransporter), member 10	355					sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(3)|ovary(3)|prostate(3)|skin(3)	24						CCTACCCCAAGCTGGTCATGG	0.652																																						ENST00000317977.6																			0				central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(3)|ovary(3)|prostate(3)|skin(3)	24						c.(862-864)aaG>aaA		solute carrier family 5 (sodium/sugar cotransporter), member 10							53	47	49					17																	18916805		2203	4300	6503	SO:0001819	synonymous_variant	125206				sodium ion transport|transmembrane transport	integral to membrane	transporter activity	g.chr17:18916805G>A		CCDS11201.2, CCDS42275.1, CCDS59277.1, CCDS59278.1, CCDS74008.1	17p11.2	2013-07-19	2013-07-19		ENSG00000154025	ENSG00000154025		"Solute carriers"	23155	protein-coding gene	gene with protein product			"solute carrier family 5 (sodium/glucose cotransporter), member 10"				Standard	NM_152351		Approved	SGLT5	uc002gut.2	A0PJK1	OTTHUMG00000178143	ENST00000395645.3:c.1065G>A	17.37:g.18916805G>A						SLC5A10_ENST00000395643.2_Silent_p.K328K|SLC5A10_ENST00000395645.3_Silent_p.K355K|SLC5A10_ENST00000395647.2_Silent_p.K371K|SLC5A10_ENST00000395642.1_Silent_p.K288K|SLC5A10_ENST00000417251.2_Intron	p.K288K			A0PJK1	SC5AA_HUMAN			9	1435	+			355					A8MUC9|B4DPI0|B7WPR4|Q6P5X0|Q8IXM4|Q96LQ1	Silent	SNP	ENST00000395645.3	37	c.864G>A	CCDS42275.1																																																																																				0.652	SLC5A10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132129.2	NM_152351		21	58	0	0	0	1	0	21	58					A	18916805	G	A	18916805	2	1	305	1	0	0	0	0	0	0	0	1	14662	962	34	3		3	SLC5A10	17	18916805	Silent	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	42336	18916805	62278405	877	15394											
KIAA0100	9703	broad.mit.edu	37	chr17	26945913	26945913	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaagtaaaactcagtgcgacGgaccacactcacatcttctt	14	9	6	12	2	4	0	2	0	2	0	4	2	4	1	1	1	2	1	1	1	3	3	rs528597756		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr17:26945913G>A	ENST00000528896.2	-	32	5793	c.5719C>T	c.(5719-5721)Cgt>Tgt	p.R1907C	SPAG5-AS1_ENST00000414744.1_RNA|KIAA0100_ENST00000389003.3_Missense_Mutation_p.R1764C|KIAA0100_ENST00000579924.2_5'UTR|KIAA0100_ENST00000544884.1_Missense_Mutation_p.R1764C|SPAG5-AS1_ENST00000554154.1_RNA|SPAG5-AS1_ENST00000424210.1_RNA	NM_014680.3	NP_055495.2	Q14667	K0100_HUMAN	KIAA0100	1907						extracellular region (GO:0005576)				breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3)	68	Lung NSC(42;0.00431)					TCAGTGCGACGGACCACACTC	0.512																																						ENST00000528896.2																			0				breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3)	68						c.(5719-5721)Cgt>Tgt		KIAA0100							131	107	115					17																	26945913		2203	4300	6503	SO:0001583	missense	9703					extracellular region		g.chr17:26945913G>A	D43947	CCDS32595.1	17q11.2	2012-11-29			ENSG00000007202	ENSG00000007202			28960	protein-coding gene	gene with protein product	"cancer/testis antigen 101", "breast cancer overexpressed gene 1"	610664				16289875	Standard	NM_014680		Approved	DKFZp686M0843, MGC111488, BCOX1, CT101, BCOX	uc002hbu.3	Q14667	OTTHUMG00000166587	ENST00000528896.2:c.5719C>T	17.37:g.26945913G>A	ENSP00000436773:p.Arg1907Cys					KIAA0100_ENST00000544884.1_Missense_Mutation_p.R1764C|KIAA0100_ENST00000579924.2_5'UTR|KIAA0100_ENST00000389003.3_Missense_Mutation_p.R1764C	p.R1907C	NM_014680.3	NP_055495.2	Q14667	K0100_HUMAN			32	5793	-	Lung NSC(42;0.00431)		1907					A6NCX3|Q3SYN5|Q49A07|Q5H9T4|Q6WG74|Q6ZP51|Q96HH8	Missense_Mutation	SNP	ENST00000528896.2	37	c.5719C>T	CCDS32595.1	.	.	.	.	.	.	.	.	.	.	G	23.3	4.404547	0.83230	.	.	ENSG00000007202	ENST00000005905;ENST00000389003;ENST00000528896;ENST00000544884	T;T	0.45276	0.9;0.9	5.36	5.36	0.76844	FMP27,  C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.67420	0.2891	M	0.76838	2.35	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.70197	-0.4938	10	0.59425	D	0.04	.	18.6657	0.91489	0.0:0.0:1.0:0.0	.	1907	Q14667	K0100_HUMAN	C	1907;1877;1907;1764	ENSP00000436773:R1907C;ENSP00000446443:R1764C	ENSP00000005905:R1907C	R	-	1	0	KIAA0100	23970040	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.711000	0.68400	2.518000	0.84900	0.655000	0.94253	CGT		0.512	KIAA0100-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390571.3	NM_014680		17	84	0	0	0	1	0	17	84					A	26945913	G	A	26945913	3	1	305	1	0	0	0	0	1	0	0	0	8154	1116	39	2	1020	2	KIAA0100	17	26945913	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	8029108	26945913	54249297	878	15395											
SEZ6	124925	broad.mit.edu	37	chr17	27285095	27285095	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccgtgcactagctcaggctgCgatgggctcttccagccatt	6	10	11	14	2	2	0	1	0	1	0	3	1	3	0	3	2	4	4	3	2	1	3			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr17:27285095C>T	ENST00000317338.12	-	11	2600	c.2172G>A	c.(2170-2172)tcG>tcA	p.S724S	SEZ6_ENST00000335960.6_Intron|SEZ6_ENST00000442608.3_Silent_p.S724S|SEZ6_ENST00000360295.9_Silent_p.S724S|PIPOX_ENST00000583215.1_Intron			Q53EL9	SEZ6_HUMAN	seizure related 6 homolog (mouse)	724	Sushi 3. {ECO:0000255|PROSITE- ProRule:PRU00302}.				adult locomotory behavior (GO:0008344)|cerebellar Purkinje cell layer development (GO:0021680)|negative regulation of dendrite development (GO:2000171)|positive regulation of dendrite development (GO:1900006)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of protein kinase C signaling (GO:0090036)|synapse maturation (GO:0060074)	apical dendrite (GO:0097440)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(4)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	29	Lung NSC(42;0.0137)		Epithelial(11;4.73e-06)|all cancers(11;2.91e-05)|BRCA - Breast invasive adenocarcinoma(11;8.06e-05)|OV - Ovarian serous cystadenocarcinoma(11;0.111)			GCTCAGGCTGCGATGGGCTCT	0.612																																						ENST00000317338.12																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(4)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	29						c.(2170-2172)tcG>tcA		seizure related 6 homolog (mouse)							87	88	88					17																	27285095		2092	4212	6304	SO:0001819	synonymous_variant	124925					integral to membrane|plasma membrane		g.chr17:27285095C>T	AY038048	CCDS45638.1, CCDS45639.1	17q11.2	2008-03-06	2001-11-28		ENSG00000063015	ENSG00000063015			15955	protein-coding gene	gene with protein product			"seizure related gene 6 (mouse) homolog"			17086543	Standard	NM_178860		Approved		uc002hdp.2	Q53EL9	OTTHUMG00000168010	ENST00000317338.12:c.2172G>A	17.37:g.27285095C>T						PIPOX_ENST00000583215.1_Intron|SEZ6_ENST00000442608.3_Silent_p.S724S|SEZ6_ENST00000360295.9_Silent_p.S724S|SEZ6_ENST00000335960.6_Intron	p.S724S			Q53EL9	SEZ6_HUMAN	Epithelial(11;4.73e-06)|all cancers(11;2.91e-05)|BRCA - Breast invasive adenocarcinoma(11;8.06e-05)|OV - Ovarian serous cystadenocarcinoma(11;0.111)		11	2600	-	Lung NSC(42;0.0137)		724			Sushi 3.		B6ZDN1|Q8N701|Q8NB57|Q8ND50|Q8TD25|Q96NI5|Q96NQ3	Silent	SNP	ENST00000317338.12	37	c.2172G>A	CCDS45639.1																																																																																				0.612	SEZ6-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397475.3			18	80	0	0	0	1	0	18	80					T	27285095	C	T	27285095	2	4	305	1	0	0	0	0	0	0	0	1	14142	755	27	1		1	SEZ6	17	27285095	Silent	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	339182	27285095	53910115	879	15396											
MYO18A	399687	broad.mit.edu	37	chr17	27437499	27437499	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agtgacttctttttgacagcCgccatgcctgtggtaaaggt	8	13	11	9	1	1	2	0	2	1	0	1	2	1	2	3	2	2	1	3	2	2	4			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr17:27437499C>T	ENST00000527372.1	-	18	3222	c.3042G>A	c.(3040-3042)gcG>gcA	p.A1014A	MYO18A_ENST00000531253.1_Silent_p.A1014A|MYO18A_ENST00000354329.4_Silent_p.A1014A|MYO18A_ENST00000533112.1_Silent_p.A1014A	NM_078471.3	NP_510880.2	Q92614	MY18A_HUMAN	myosin XVIIIA	1014	Myosin motor.			A -> V (in Ref. 1; BAD66838). {ECO:0000305}.	actomyosin structure organization (GO:0031032)|cell migration (GO:0016477)|DNA metabolic process (GO:0006259)|Golgi organization (GO:0007030)|Golgi vesicle budding (GO:0048194)|negative regulation of apoptotic process (GO:0043066)|positive regulation of protein secretion (GO:0050714)	actomyosin (GO:0042641)|Golgi membrane (GO:0000139)|membrane (GO:0016020)|myosin complex (GO:0016459)|trans-Golgi network (GO:0005802)	actin filament binding (GO:0051015)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|motor activity (GO:0003774)|poly(A) RNA binding (GO:0044822)			NS(1)|cervix(1)|endometrium(6)|kidney(6)|lung(20)|urinary_tract(2)	36			Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)			TTTTGACAGCCGCCATGCCTG	0.647																																					Esophageal Squamous(182;472 2015 7001 15270 22562)	ENST00000527372.1																			0				NS(1)|cervix(1)|endometrium(6)|kidney(6)|lung(20)|urinary_tract(2)	36						c.(3040-3042)gcG>gcA		myosin XVIIIA							26	27	27					17																	27437499		1994	4164	6158	SO:0001819	synonymous_variant	399687				anti-apoptosis|DNA metabolic process	ER-Golgi intermediate compartment|myosin complex	ATP binding|DNA binding|DNA-dependent ATPase activity|identical protein binding|motor activity	g.chr17:27437499C>T	D86970	CCDS45641.1, CCDS45642.1	17q11.2	2011-09-27			ENSG00000196535	ENSG00000196535		"Myosins / Myosin superfamily : Class XVIII"	31104	protein-coding gene	gene with protein product		610067				12761286	Standard	NM_078471		Approved	KIAA0216, MysPDZ	uc002hdt.1	Q92614	OTTHUMG00000166360	ENST00000527372.1:c.3042G>A	17.37:g.27437499C>T						MYO18A_ENST00000354329.4_Silent_p.A1014A|MYO18A_ENST00000533112.1_Silent_p.A1014A|MYO18A_ENST00000531253.1_Silent_p.A1014A	p.A1014A	NM_078471.3	NP_510880.2	Q92614	MY18A_HUMAN	Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)		18	3222	-			1014	A -> V (in Ref. 1; BAD66838).		Myosin head-like.		Q5H9U3|Q5W9F9|Q5W9G1|Q8IXP8	Silent	SNP	ENST00000527372.1	37	c.3042G>A	CCDS45642.1																																																																																				0.647	MYO18A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389396.1	NM_078471		3	11	0	0	0	1	0	3	11					T	27437499	C	T	27437499	2	4	305	1	0	0	0	0	0	0	0	1	10065	639	23	2		2	MYO18A	17	27437499	Silent	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	152404	27437499	53757711	880	15397											
SSH2	85464	broad.mit.edu	37	chr17	27959375	27959375	+	Frame_Shift_Del	DEL	G	G	-																															tgaggacaaatgaatgttctGggggggcttcatcacttttc																								rs376316249		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr17:27959375delG	ENST00000269033.3	-	15	2907	c.2756delC	c.(2755-2757)ccafs	p.P919fs	SSH2_ENST00000540801.1_Frame_Shift_Del_p.P946fs|RP11-68I3.2_ENST00000581474.1_RNA	NM_001282129.1|NM_033389.2	NP_001269058.1|NP_203747.2	Q76I76	SSH2_HUMAN	slingshot protein phosphatase 2	919					actin cytoskeleton organization (GO:0030036)|protein dephosphorylation (GO:0006470)|regulation of actin polymerization or depolymerization (GO:0008064)|regulation of axonogenesis (GO:0050770)|regulation of lamellipodium assembly (GO:0010591)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular space (GO:0005615)	actin binding (GO:0003779)|DNA binding (GO:0003677)|phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)		SSH2/SUZ12(2)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TGAATGTTCTGGGGGGGCTTC	0.483																																						ENST00000269033.3																		SSH2/SUZ12(2)	0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						c.(2755-2757)cafs		slingshot protein phosphatase 2							181	194	190					17																	27959375		2203	4300	6503	SO:0001589	frameshift_variant	85464				actin cytoskeleton organization|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly	cytoplasm|cytoskeleton	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr17:27959375delG	AB072359	CCDS11253.1, CCDS74024.1	17q11.2	2013-03-05	2013-03-05		ENSG00000141298	ENSG00000141298		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Slingshots"	30580	protein-coding gene	gene with protein product		606779	"slingshot homolog 2 (Drosophila)"			11832213, 11214970	Standard	XM_005258059		Approved	KIAA1725	uc002heo.1	Q76I76	OTTHUMG00000132752	ENST00000269033.3:c.2756delC	17.37:g.27959375delG	ENSP00000269033:p.Pro919fs					RP11-68I3.2_ENST00000581474.1_RNA|SSH2_ENST00000540801.1_Frame_Shift_Del_p.P946fs	p.P919fs	NM_033389.2	NP_203747.2	Q76I76	SSH2_HUMAN			15	2907	-			919					Q8TDB5|Q8WYL1|Q8WYL2|Q96F40|Q96H36|Q9C0D8	Frame_Shift_Del	DEL	ENST00000269033.3	37	c.2756delC	CCDS11253.1																																																																																				0.483	SSH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256116.1	NM_033389		14	391						14	391	---	---	---	---	-	27959375	G	-	27959375	7	5	305	1	0	1	0	1	0	0	0	0	15184	1348	47	0	1519	0	SSH2	17	27959375	Frame_Shift_Del	DEL	G	TCGA-KK-A59V-01A-11D-A29Q-08	521876	27959375	53235835	881	15398											
ATAD5	79915	broad.mit.edu	37	chr17	29204438	29204438	+	Frame_Shift_Del	DEL	A	A	-																															tattgtatttatgcaggaatAaaaaattcttttgaacagaa																										TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr17:29204438delA	ENST00000321990.4	+	16	4167	c.3789delA	c.(3787-3789)atafs	p.I1263fs		NM_024857.3	NP_079133.3	Q96QE3	ATAD5_HUMAN	ATPase family, AAA domain containing 5	1263					cellular response to DNA damage stimulus (GO:0006974)	nucleus (GO:0005634)	ATP binding (GO:0005524)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(18)|lung(13)|ovary(3)|pancreas(1)	51		all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393)				ATGCAGGAATAAAAAATTCTT	0.299																																						ENST00000321990.4																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(18)|lung(13)|ovary(3)|pancreas(1)	51						c.(3787-3789)atfs		ATPase family, AAA domain containing 5							29	32	31					17																	29204438		2197	4296	6493	SO:0001589	frameshift_variant	79915				response to DNA damage stimulus	nucleus	ATP binding|nucleoside-triphosphatase activity	g.chr17:29204438delA		CCDS11260.1	17q11.2	2010-04-21	2007-02-08	2007-02-08	ENSG00000176208	ENSG00000176208		"ATPases / AAA-type"	25752	protein-coding gene	gene with protein product	"enhanced level of genomic instability 1 homolog (S. cerevisiae)"	609534	"chromosome 17 open reading frame 41"	C17orf41		15983387, 11468690, 19755857	Standard	NM_024857		Approved	FLJ12735, FRAG1, ELG1	uc002hfs.1	Q96QE3	OTTHUMG00000132794	ENST00000321990.4:c.3789delA	17.37:g.29204438delA	ENSP00000313171:p.Ile1263fs						p.I1263fs	NM_024857.3	NP_079133.3	Q96QE3	ATAD5_HUMAN			16	4167	+		all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393)	1263					Q05DH0|Q69YR6|Q9H9I1	Frame_Shift_Del	DEL	ENST00000321990.4	37	c.3789delA	CCDS11260.1																																																																																				0.299	ATAD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256206.2	NM_024857		14	34						14	34	---	---	---	---	-	29204438	A	-	29204438	7	5	305	1	0	1	0	1	0	0	0	0	1076	352	13	0	3851	0	ATAD5	17	29204438	Frame_Shift_Del	DEL	A	TCGA-KK-A59V-01A-11D-A29Q-08	1245063	29204438	51990772	882	15399											
C17orf75	64149	broad.mit.edu	37	chr17	30666926	30666926	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcgcagctctggctccacttCggatggtagattagtatctg	7	12	12	10	2	2	1	0	0	2	1	4	2	3	2	1	3	1	5	1	3	3	4	rs576304862		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr17:30666926C>T	ENST00000577809.1	-	3	302	c.253G>A	c.(253-255)Gaa>Aaa	p.E85K	C17orf75_ENST00000225805.4_Missense_Mutation_p.E85K|RP11-227G15.3_ENST00000581915.1_RNA	NM_022344.3	NP_071739.2	Q9HAS0	NJMU_HUMAN	chromosome 17 open reading frame 75	85										ovary(1)	1		Breast(31;0.116)|Ovarian(249;0.182)	BRCA - Breast invasive adenocarcinoma(9;0.239)			GGCTCCACTTCGGATGGTAGA	0.458													C|||	1	0.000199681	8e-04	0	5008	,	,		19654	0		0	False		,,,				2504	0					ENST00000577809.1																			0				ovary(1)	1						c.(253-255)Gaa>Aaa		chromosome 17 open reading frame 75							95	92	93					17																	30666926		1928	4141	6069	SO:0001583	missense	64149				spermatogenesis			g.chr17:30666926C>T	AB062437	CCDS58537.1	17q11.2	2013-01-21			ENSG00000108666	ENSG00000108666			30173	protein-coding gene	gene with protein product							Standard	NM_022344		Approved	NJMU-R1	uc002hhg.3	Q9HAS0		ENST00000577809.1:c.253G>A	17.37:g.30666926C>T	ENSP00000464275:p.Glu85Lys					RP11-227G15.3_ENST00000581915.1_RNA|C17orf75_ENST00000225805.4_Missense_Mutation_p.E85K	p.E85K	NM_022344.3	NP_071739.2	Q9HAS0	NJMU_HUMAN	BRCA - Breast invasive adenocarcinoma(9;0.239)		3	302	-		Breast(31;0.116)|Ovarian(249;0.182)	85					Q7Z2H4	Missense_Mutation	SNP	ENST00000577809.1	37	c.253G>A	CCDS58537.1	.	.	.	.	.	.	.	.	.	.	C	18.49	3.636406	0.67130	.	.	ENSG00000108666	ENST00000225805	.	.	.	5.49	5.49	0.81192	.	0.000000	0.85682	D	0.000000	T	0.78972	0.4368	M	0.66939	2.045	0.58432	D	0.999997	D	0.89917	1.0	D	0.80764	0.994	T	0.80560	-0.1328	9	0.87932	D	0	-19.2188	19.3608	0.94436	0.0:1.0:0.0:0.0	.	85	Q9HAS0	NJMU_HUMAN	K	85	.	ENSP00000225805:E85K	E	-	1	0	C17orf75	27691039	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.265000	0.78442	2.572000	0.86782	0.650000	0.86243	GAA		0.458	C17orf75-001	KNOWN	non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000447204.1	NM_022344		4	74	0	0	0	1	0	4	74					T	30666926	C	T	30666926	3	4	305	1	0	0	0	0	1	0	0	0	1880	893	31	2	969	2	C17orf75	17	30666926	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	1462488	30666926	50528284	883	15400											
GAS2L2	246176	broad.mit.edu	37	chr17	34077124	34077124	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ccaggttgcggaagtggcagGgctggcgcctggggggcgct	4	6	21	10	3	0	0	0	0	0	0	0	1	0	1	2	8	1	4	2	8	1	1			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr17:34077124G>T	ENST00000254466.6	-	2	626	c.599C>A	c.(598-600)cCc>cAc	p.P200H	GAS2L2_ENST00000587565.1_Splice_Site_p.P184H	NM_139285.3	NP_644814.1	Q8NHY3	GA2L2_HUMAN	growth arrest-specific 2 like 2	200					cell cycle arrest (GO:0007050)|microtubule bundle formation (GO:0001578)|negative regulation of microtubule depolymerization (GO:0007026)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	actin filament binding (GO:0051015)|cytoskeletal adaptor activity (GO:0008093)|microtubule binding (GO:0008017)			central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		GAAGTGGCAGGGCTGGCGCCT	0.711																																						ENST00000254466.6																			0				central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						c.(598-600)cCc>cAc		growth arrest-specific 2 like 2							11	15	14					17																	34077124		2146	4209	6355	SO:0001583	missense	246176				cell cycle arrest	cytoplasm|cytoskeleton		g.chr17:34077124G>T	AF508784	CCDS11298.1	17q21	2014-05-06			ENSG00000132139	ENSG00000270765			24846	protein-coding gene	gene with protein product		611398				12584248	Standard	NM_139285		Approved	GAR17	uc002hjv.2	Q8NHY3	OTTHUMG00000188386	ENST00000254466.6:c.599C>A	17.37:g.34077124G>T	ENSP00000254466:p.Pro200His					GAS2L2_ENST00000587565.1_Splice_Site_p.P184_splice	p.P200H	NM_139285.3	NP_644814.1	Q8NHY3	GA2L2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)	2	626	-		Ovarian(249;0.17)	200					Q8NHY4	Missense_Mutation	SNP	ENST00000254466.6	37	c.599C>A	CCDS11298.1	.	.	.	.	.	.	.	.	.	.	G	10.52	1.372575	0.24857	.	.	ENSG00000132139	ENST00000254466	T	0.18810	2.19	5.0	1.62	0.23740	Growth-arrest-specific protein 2 domain (1);	0.813768	0.11188	N	0.590230	T	0.23133	0.0559	L	0.57536	1.79	0.09310	N	0.999998	P	0.46277	0.875	P	0.46975	0.533	T	0.12451	-1.0547	10	0.35671	T	0.21	0.5057	4.0845	0.09940	0.0773:0.142:0.4869:0.2937	.	200	Q8NHY3	GA2L2_HUMAN	H	200	ENSP00000254466:P200H	ENSP00000254466:P200H	P	-	2	0	GAS2L2	31101237	0.091000	0.21658	0.868000	0.34077	0.143000	0.21401	1.260000	0.32968	0.469000	0.27268	-0.479000	0.04858	CCC		0.711	GAS2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256497.1	NM_139285		18	43	1	0	6.49762e-13	1	6.77958e-13	18	43					T	34077124	G	T	34077124	3	4	305	1	0	0	0	0	1	0	0	0	6247	1232	43	5	2063	5	GAS2L2	17	34077124	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	3410198	34077124	47118086	884	15401											
GGNBP2	79893	broad.mit.edu	37	chr17	34945826	34945826	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgtagtggctggttgacaacGgctggagcaaattaaataaa	14	10	12	5	1	0	1	0	1	0	0	0	2	0	2	0	4	2	5	0	4	7	4	rs370737250		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr17:34945826G>A	ENST00000304718.4	+	14	2395	c.2079G>A	c.(2077-2079)acG>acA	p.T693T	DHRS11_ENST00000251312.5_5'Flank|DHRS11_ENST00000590554.1_5'Flank	NM_024835.3	NP_079111.1	Q9H3C7	GGNB2_HUMAN	gametogenetin binding protein 2	693					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasmic vesicle (GO:0031410)|nucleus (GO:0005634)				breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(1)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(1)	38		Breast(25;0.00957)|Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0193)		GGTTGACAACGGCTGGAGCAA	0.383																																						ENST00000304718.4																			0				breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(1)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(1)	38						c.(2077-2079)acG>acA		gametogenetin binding protein 2		G		0,4406		0,0,2203	65	73	70		2079	0.6	1	17		70	3,8597	3.0+/-9.4	0,3,4297	no	coding-synonymous	GGNBP2	NM_024835.3		0,3,6500	AA,AG,GG		0.0349,0.0,0.0231		693/698	34945826	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	79893				cell differentiation|multicellular organismal development|spermatogenesis	cytoplasmic membrane-bounded vesicle		g.chr17:34945826G>A	AF126964	CCDS11314.1	17q21.1	2014-05-06	2007-08-20	2007-08-20	ENSG00000005955	ENSG00000278311			19357	protein-coding gene	gene with protein product		612275	"zinc finger protein 403"	ZNF403		11728448	Standard	NM_024835		Approved	ZFP403, LZK1, FLJ22561, FLJ21230, DIF-3, DIF3	uc002hnb.3	Q9H3C7	OTTHUMG00000188440	ENST00000304718.4:c.2079G>A	17.37:g.34945826G>A							p.T693T	NM_024835.3	NP_079111.1	Q9H3C7	GGNB2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0193)	14	2395	+		Breast(25;0.00957)|Ovarian(249;0.17)	693					B2RPK7|Q96T90|Q9GZR8|Q9H767	Silent	SNP	ENST00000304718.4	37	c.2079G>A	CCDS11314.1																																																																																				0.383	GGNBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256684.2	NM_024835		32	74	0	0	0	1	0	32	74					A	34945826	G	A	34945826	2	1	305	1	0	0	0	0	0	0	0	1	6359	1103	39	2		2	GGNBP2	17	34945826	Silent	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	868702	34945826	46249384	885	15402											
SRCIN1	80725	broad.mit.edu	37	chr17	36734841	36734841	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcatcacgcttgcggtcggCgtccgccttctggagcccgc	3	8	14	16	6	2	0	1	0	1	0	4	1	3	1	3	4	2	2	3	4	0	2			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr17:36734841C>T	ENST00000264659.7	-	2	450	c.226G>A	c.(226-228)Gcc>Acc	p.A76T	SRCIN1_ENST00000578925.1_Missense_Mutation_p.A76T	NM_025248.2	NP_079524.2	Q9C0H9	SRCN1_HUMAN	SRC kinase signaling inhibitor 1	0					exocytosis (GO:0006887)|negative regulation of protein tyrosine kinase activity (GO:0061099)|positive regulation of protein tyrosine kinase activity (GO:0061098)|regulation of cell migration (GO:0030334)|regulation of dendritic spine morphogenesis (GO:0061001)|substrate adhesion-dependent cell spreading (GO:0034446)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	protein kinase binding (GO:0019901)			endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)	19						TTGCGGTCGGCGTCCGCCTTC	0.677																																						ENST00000264659.7																			0				endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)	19						c.(226-228)Gcc>Acc		SRC kinase signaling inhibitor 1							25	29	28					17																	36734841		1997	4152	6149	SO:0001583	missense	80725				exocytosis|negative regulation of protein tyrosine kinase activity|positive regulation of protein tyrosine kinase activity|regulation of cell migration|regulation of dendritic spine morphogenesis|substrate adhesion-dependent cell spreading	actin cytoskeleton|axon|cell junction|cytoplasm|dendrite|postsynaptic density|postsynaptic membrane	protein kinase binding	g.chr17:36734841C>T		CCDS45660.1	17q12	2009-12-14			ENSG00000017373	ENSG00000277363			29506	protein-coding gene	gene with protein product	"p130Cas-associated protein", "SNAP-25-interacting protein"	610786				11214970	Standard	NM_025248		Approved	SNIP, p140Cap, KIAA1684	uc002hqd.3	Q9C0H9		ENST00000264659.7:c.226G>A	17.37:g.36734841C>T	ENSP00000264659:p.Ala76Thr					SRCIN1_ENST00000578925.1_Missense_Mutation_p.A76T	p.A76T	NM_025248.2	NP_079524.2	Q9C0H9	SRCN1_HUMAN			2	450	-			83					Q75T46|Q8N4W8	Missense_Mutation	SNP	ENST00000264659.7	37	c.226G>A	CCDS45660.1	.	.	.	.	.	.	.	.	.	.	C	19.81	3.896031	0.72639	.	.	ENSG00000017373	ENST00000264659	T	0.66460	-0.21	4.76	3.78	0.43462	.	0.259797	0.35838	N	0.002949	T	0.46852	0.1414	.	.	.	0.31782	N	0.630757	P	0.46327	0.876	B	0.33295	0.161	T	0.62139	-0.6917	9	0.66056	D	0.02	-17.9475	6.3756	0.21505	0.0:0.7944:0.0:0.2056	.	76	Q9C0H9-5	.	T	76	ENSP00000264659:A76T	ENSP00000264659:A76T	A	-	1	0	SRCIN1	33988367	1.000000	0.71417	0.944000	0.38274	0.995000	0.86356	4.408000	0.59761	2.173000	0.68751	0.561000	0.74099	GCC		0.677	SRCIN1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000441878.4	NM_025248		12	18	0	0	0	1	0	12	18					T	36734841	C	T	36734841	3	4	305	1	0	0	0	0	1	0	0	0	15135	768	27	1	3397	1	SRCIN1	17	36734841	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	1789015	36734841	44460369	886	15403											
PLXDC1	57125	broad.mit.edu	37	chr17	37234284	37234284	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcctcatcctggaagtcctcGcacatcctgccctctgcctg	5	11	7	18	1	2	0	1	0	1	0	7	1	6	1	6	1	2	1	6	1	1	0	rs138219673		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr17:37234284G>A	ENST00000315392.4	-	11	1279	c.1068C>T	c.(1066-1068)tgC>tgT	p.C356C	PLXDC1_ENST00000539608.1_3'UTR|PLXDC1_ENST00000493200.1_5'UTR|CTD-2206N4.4_ENST00000583447.1_RNA|PLXDC1_ENST00000444911.2_Silent_p.C316C	NM_020405.4	NP_065138.2	Q8IUK5	PLDX1_HUMAN	plexin domain containing 1	356					angiogenesis (GO:0001525)|spinal cord development (GO:0021510)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|tight junction (GO:0005923)	receptor activity (GO:0004872)			kidney(2)|large_intestine(6)|liver(1)|lung(10)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	23						GGAAGTCCTCGCACATCCTGC	0.542																																						ENST00000315392.4																			0				kidney(2)|large_intestine(6)|liver(1)|lung(10)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	23						c.(1066-1068)tgC>tgT		plexin domain containing 1		G		1,4405	2.1+/-5.4	0,1,2202	168	110	129		1068	0.9	1	17	dbSNP_134	129	0,8600		0,0,4300	no	coding-synonymous	PLXDC1	NM_020405.4		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		356/501	37234284	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	57125				angiogenesis	cytoplasm|extracellular region|integral to membrane|tight junction		g.chr17:37234284G>A	AF279144	CCDS11333.1	17q21.1	2006-04-12			ENSG00000161381	ENSG00000161381			20945	protein-coding gene	gene with protein product	"tumor endothelial marker 7 precursor"	606826				10947988, 11559528	Standard	NM_020405		Approved	TEM3, TEM7	uc002hrg.2	Q8IUK5	OTTHUMG00000133183	ENST00000315392.4:c.1068C>T	17.37:g.37234284G>A						PLXDC1_ENST00000539608.1_3'UTR|PLXDC1_ENST00000493200.1_5'UTR|PLXDC1_ENST00000444911.2_Silent_p.C316C|CTD-2206N4.4_ENST00000583447.1_RNA	p.C356C	NM_020405.4	NP_065138.2	Q8IUK5	PXDC1_HUMAN			11	1279	-			356					B2R7I8|Q5QCZ7|Q5QCZ8|Q5QCZ9|Q9HCT9	Silent	SNP	ENST00000315392.4	37	c.1068C>T	CCDS11333.1																																																																																				0.542	PLXDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256892.2	NM_020405		19	43	0	0	0	1	0	19	43					A	37234284	G	A	37234284	2	1	305	1	0	0	0	0	0	0	0	1	12117	1079	38	1		1	PLXDC1	17	37234284	Silent	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	499443	37234284	43960926	887	15404											
TCAP	8557	broad.mit.edu	37	chr17	37822127	37822127	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gccctaccagcgggtactgcCgctgcccatcttcacccctg	5	8	9	19	2	2	0	1	0	1	0	2	0	2	0	6	1	5	2	6	1	2	3			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr17:37822127C>T	ENST00000309889.2	+	2	1442	c.269C>T	c.(268-270)cCg>cTg	p.P90L	PNMT_ENST00000394246.1_5'Flank|PNMT_ENST00000581428.1_5'Flank|TCAP_ENST00000578283.1_Missense_Mutation_p.P66L|PNMT_ENST00000269582.2_5'Flank			O15273	TELT_HUMAN	titin-cap	90			P -> L (in CMD1N). {ECO:0000269|PubMed:16352453}.		adult heart development (GO:0007512)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle hypertrophy in response to stress (GO:0014898)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of mechanical stimulus (GO:0050982)|detection of muscle stretch (GO:0035995)|muscle filament sliding (GO:0030049)|otic vesicle formation (GO:0030916)|protein complex assembly (GO:0006461)|response to muscle stretch (GO:0035994)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle contraction (GO:0003009)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)	cytosol (GO:0005829)|I band (GO:0031674)|Z disc (GO:0030018)	FATZ binding (GO:0051373)|ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)|titin Z domain binding (GO:0070080)			kidney(1)|lung(1)	2	all_cancers(6;6.59e-85)|all_epithelial(6;2.89e-103)|Breast(7;1.05e-86)|Lung NSC(9;1.15e-09)|all_lung(9;6.24e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|BRCA - Breast invasive adenocarcinoma(8;3.87e-45)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			CGGGTACTGCCGCTGCCCATC	0.672																																						ENST00000309889.2																			0				kidney(1)|lung(1)	2	GRCh37	CM062009	TCAP	M		c.(268-270)cCg>cTg		titin-cap							18	19	19					17																	37822127		2199	4291	6490	SO:0001583	missense	8557				adult heart development|cardiac muscle contraction|cardiac muscle fiber development|cardiac muscle tissue morphogenesis|detection of mechanical stimulus|muscle filament sliding|response to stress|sarcomere organization|skeletal muscle contraction|skeletal muscle myosin thick filament assembly|skeletal muscle thin filament assembly	cytosol|Z disc	structural constituent of muscle|titin binding|titin Z domain binding	g.chr17:37822127C>T	AJ000491	CCDS11342.1	17q12	2014-09-17	2012-09-20		ENSG00000173991	ENSG00000173991			11610	protein-coding gene	gene with protein product	"19 kDa sarcomeric protein"	604488	"limb girdle muscular dystrophy 2G (autosomal recessive)", "titin-cap (telethonin)"	LGMD2G		9350988, 9817758	Standard	NM_003673		Approved	T-cap, TELE, telethonin, CMD1N	uc002hsh.3	O15273	OTTHUMG00000133215	ENST00000309889.2:c.269C>T	17.37:g.37822127C>T	ENSP00000312624:p.Pro90Leu					TCAP_ENST00000578283.1_Missense_Mutation_p.P66L	p.P90L			O15273	TELT_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|BRCA - Breast invasive adenocarcinoma(8;3.87e-45)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)		2	1442	+	all_cancers(6;6.59e-85)|all_epithelial(6;2.89e-103)|Breast(7;1.05e-86)|Lung NSC(9;1.15e-09)|all_lung(9;6.24e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		90		P -> L (in CMD1N).			Q96L27	Missense_Mutation	SNP	ENST00000309889.2	37	c.269C>T	CCDS11342.1	.	.	.	.	.	.	.	.	.	.	C	16.01	3.001435	0.54254	.	.	ENSG00000173991	ENST00000309889	D	0.88818	-2.43	5.71	5.71	0.89125	.	0.053598	0.85682	D	0.000000	D	0.91294	0.7255	L	0.27053	0.805	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.92265	0.5820	10	0.72032	D	0.01	-54.5123	18.616	0.91303	0.0:1.0:0.0:0.0	.	90	O15273	TELT_HUMAN	L	90	ENSP00000312624:P90L	ENSP00000312624:P90L	P	+	2	0	TCAP	35075653	1.000000	0.71417	0.978000	0.43139	0.860000	0.49131	6.699000	0.74613	2.695000	0.91970	0.462000	0.41574	CCG		0.672	TCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256942.1	NM_003673		7	23	0	0	0	1	0	7	23					T	37822127	C	T	37822127	3	4	305	1	0	0	0	0	1	0	0	0	15663	652	23	2	275	2	TCAP	17	37822127	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	587843	37822127	43373083	888	15405											
CASC3	22794	broad.mit.edu	37	chr17	38319961	38319961	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tggtgggcagcatggtggccGgtctggtgagactgttaagc	6	10	18	7	1	1	1	0	1	1	1	1	2	1	1	1	6	2	3	1	6	1	1	rs139973585		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr17:38319961G>A	ENST00000264645.7	+	7	1239	c.1013G>A	c.(1012-1014)cGg>cAg	p.R338Q		NM_007359.4	NP_031385.2	O15234	CASC3_HUMAN	cancer susceptibility candidate 3	338					gene expression (GO:0010467)|intracellular mRNA localization (GO:0008298)|mRNA metabolic process (GO:0016071)|mRNA processing (GO:0006397)|mRNA transport (GO:0051028)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of translation (GO:0006417)|response to stress (GO:0006950)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)	cytosol (GO:0005829)|exon-exon junction complex (GO:0035145)|ribonucleoprotein complex (GO:0030529)	enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|ubiquitin protein ligase binding (GO:0031625)			endometrium(4)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|urinary_tract(2)	16						CATGGTGGCCGGTCTGGTGAG	0.552																																						ENST00000264645.7																			0				endometrium(4)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|urinary_tract(2)	16						c.(1012-1014)cGg>cAg		cancer susceptibility candidate 3		G	GLN/ARG	0,4406		0,0,2203	205	196	199		1013	4.8	1	17	dbSNP_134	199	2,8598	2.2+/-6.3	0,2,4298	no	missense	CASC3	NM_007359.4	43	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	probably-damaging	338/704	38319961	2,13004	2203	4300	6503	SO:0001583	missense	22794				mRNA processing|mRNA transport|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translation|response to stress|RNA splicing	exon-exon junction complex|nuclear speck|perinuclear region of cytoplasm	identical protein binding|RNA binding|ubiquitin protein ligase binding	g.chr17:38319961G>A	X80199	CCDS11362.1	17q21.1	2012-09-20			ENSG00000108349	ENSG00000108349			17040	protein-coding gene	gene with protein product		606504				7490069, 18332872	Standard	NM_007359		Approved	MLN51, BTZ	uc002hue.3	O15234	OTTHUMG00000133323	ENST00000264645.7:c.1013G>A	17.37:g.38319961G>A	ENSP00000264645:p.Arg338Gln						p.R338Q	NM_007359.4	NP_031385.2	O15234	CASC3_HUMAN			7	1239	+			338					A8K8R0	Missense_Mutation	SNP	ENST00000264645.7	37	c.1013G>A	CCDS11362.1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.460726	0.84317	0.0	2.33E-4	ENSG00000108349	ENST00000264645;ENST00000418132;ENST00000394114	.	.	.	5.74	4.76	0.60689	.	0.368102	0.27159	N	0.020656	T	0.21145	0.0509	N	0.19112	0.55	0.30776	N	0.742493	P;P	0.52692	0.955;0.817	B;B	0.38194	0.267;0.143	T	0.11616	-1.0580	9	0.40728	T	0.16	-15.3922	10.9762	0.47467	0.1447:0.0:0.8553:0.0	.	338;338	B4DKR6;O15234	.;CASC3_HUMAN	Q	338	.	ENSP00000264645:R338Q	R	+	2	0	CASC3	35573487	0.917000	0.31117	1.000000	0.80357	0.982000	0.71751	4.458000	0.60095	2.717000	0.92951	0.655000	0.94253	CGG		0.552	CASC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257127.3	NM_007359		13	267	0	0	0	1	0	13	267					A	38319961	G	A	38319961	3	1	305	1	0	0	0	0	1	0	0	0	2661	1116	39	2	1039	2	CASC3	17	38319961	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	497834	38319961	42875249	889	15406											
KRT33B	3884	broad.mit.edu	37	chr17	39521647	39521647	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cgtgcttagatgcccacctgCgtggcgaaccattgctccac	7	9	10	15	3	0	1	0	0	0	1	1	2	1	1	4	1	5	2	4	1	2	2			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr17:39521647C>T	ENST00000251646.3	-	4	796	c.747G>A	c.(745-747)acG>acA	p.T249T		NM_002279.4	NP_002270.1	Q14525	KT33B_HUMAN	keratin 33B	249	Coil 2.|Rod.				aging (GO:0007568)|hair cycle (GO:0042633)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|lung(6)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	21		Breast(137;0.000496)				TGCCCACCTGCGTGGCGAACC	0.627																																						ENST00000251646.3																			0				NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|lung(6)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	21						c.(745-747)acG>acA		keratin 33B							55	53	54					17																	39521647		2189	4296	6485	SO:0001819	synonymous_variant	3884					intermediate filament	protein binding|structural molecule activity	g.chr17:39521647C>T	X82634	CCDS11389.1	17q21.2	2013-01-16	2006-07-17	2006-07-17	ENSG00000131738	ENSG00000131738		"-", "Intermediate filaments type I, keratins (acidic)"	6451	protein-coding gene	gene with protein product	"hard keratin type I 3II"	602762	"keratin, hair, acidic, 3B"	KRTHA3B		7565656, 16831889	Standard	NM_002279		Approved	Ha-3II	uc002hwl.4	Q14525	OTTHUMG00000133429	ENST00000251646.3:c.747G>A	17.37:g.39521647C>T							p.T249T	NM_002279.4	NP_002270.1	Q14525	KT33B_HUMAN			4	796	-		Breast(137;0.000496)	249			Coil 2.|Rod.		O76010	Silent	SNP	ENST00000251646.3	37	c.747G>A	CCDS11389.1																																																																																				0.627	KRT33B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257292.1	NM_002279		17	57	0	0	0	1	0	17	57					T	39521647	C	T	39521647	2	4	305	1	0	0	0	0	0	0	0	1	8470	755	27	1		1	KRT33B	17	39521647	Silent	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	1201686	39521647	41673563	890	15407											
FKBP10	60681	broad.mit.edu	37	chr17	39973358	39973358	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggtgggtgtggggcgcctCatcactggcatggaccgagg	5	8	19	9	2	2	0	2	0	0	0	2	2	2	1	2	7	0	1	2	7	0	0			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr17:39973358C>A	ENST00000321562.4	+	2	398	c.294C>A	c.(292-294)ctC>ctA	p.L98L	FKBP10_ENST00000544340.1_5'Flank	NM_021939.3	NP_068758.3	Q96AY3	FKB10_HUMAN	FK506 binding protein 10, 65 kDa	98	PPIase FKBP-type 1. {ECO:0000255|PROSITE- ProRule:PRU00277}.				chaperone-mediated protein folding (GO:0061077)|protein peptidyl-prolyl isomerization (GO:0000413)	endoplasmic reticulum membrane (GO:0005789)	calcium ion binding (GO:0005509)|FK506 binding (GO:0005528)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			cervix(1)|endometrium(3)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	14		Breast(137;0.00122)		BRCA - Breast invasive adenocarcinoma(366;0.148)		TGGGGCGCCTCATCACTGGCA	0.627																																						ENST00000321562.4																			0				cervix(1)|endometrium(3)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	14						c.(292-294)ctC>ctA		FK506 binding protein 10, 65 kDa							131	100	111					17																	39973358		2203	4300	6503	SO:0001819	synonymous_variant	60681				protein folding	endoplasmic reticulum lumen|membrane	calcium ion binding|FK506 binding|peptidyl-prolyl cis-trans isomerase activity	g.chr17:39973358C>A	AB045981	CCDS11409.1	17q21.2	2014-09-17	2002-08-29		ENSG00000141756	ENSG00000141756		"EF-hand domain containing"	18169	protein-coding gene	gene with protein product		607063	"FK506 binding protein 10 (65 kDa)"			11071917, 18786928	Standard	NM_021939		Approved	hFKBP65, FLJ22041, FKBP6, FLJ20683, FLJ23833	uc002hxv.2	Q96AY3	OTTHUMG00000133497	ENST00000321562.4:c.294C>A	17.37:g.39973358C>A							p.L98L	NM_021939.3	NP_068758.3	Q96AY3	FKB10_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.148)	2	398	+		Breast(137;0.00122)	98			PPIase FKBP-type 1.		Q7Z3R4|Q9H3N3|Q9H6J3|Q9H6N5|Q9UF89	Silent	SNP	ENST00000321562.4	37	c.294C>A	CCDS11409.1																																																																																				0.627	FKBP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257410.2	NM_021939		4	90	1	0	0.014758	1	0.0149096	4	90					A	39973358	C	A	39973358	2	1	305	1	0	0	0	0	0	0	0	1	5902	813	29	5		5	FKBP10	17	39973358	Silent	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	451711	39973358	41221852	891	15408											
KLHL10	317719	broad.mit.edu	37	chr17	40004485	40004485	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgaggaatatgcagctagaCgggacaacttcccaggatta	13	9	11	8	1	0	2	0	1	0	1	1	5	1	5	1	3	3	2	1	3	5	5	rs200952142		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr17:40004485C>T	ENST00000293303.4	+	5	1906	c.1753C>T	c.(1753-1755)Cgg>Tgg	p.R585W	RP11-156E6.1_ENST00000560400.1_RNA	NM_152467.3	NP_689680.2	Q6JEL2	KLH10_HUMAN	kelch-like family member 10	585					cell morphogenesis (GO:0000902)|fertilization (GO:0009566)|homeostasis of number of cells within a tissue (GO:0048873)|male genitalia morphogenesis (GO:0048808)|male gonad development (GO:0008584)|protein ubiquitination (GO:0016567)|spermatid development (GO:0007286)	cytoplasm (GO:0005737)				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	26		Breast(137;0.000162)				TGCAGCTAGACGGGACAACTT	0.453													C|||	1	0.000199681	0	0	5008	,	,		19326	0		0.001	False		,,,				2504	0					ENST00000293303.4																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	26						c.(1753-1755)Cgg>Tgg		kelch-like family member 10							124	122	123					17																	40004485		1993	4163	6156	SO:0001583	missense	317719					cytoplasm		g.chr17:40004485C>T	AK057224	CCDS42340.1	17q21.2	2013-01-30	2013-01-30		ENSG00000161594	ENSG00000161594		"Kelch-like", "BTB/POZ domain containing"	18829	protein-coding gene	gene with protein product		608778	"kelch-like 10 (Drosophila)"				Standard	NM_152467		Approved	FLJ32662	uc010cxr.3	Q6JEL2	OTTHUMG00000152510	ENST00000293303.4:c.1753C>T	17.37:g.40004485C>T	ENSP00000293303:p.Arg585Trp						p.R585W	NM_152467.3	NP_689680.2	Q6JEL2	KLH10_HUMAN			5	1906	+		Breast(137;0.000162)	585					Q6NW28|Q96MC0	Missense_Mutation	SNP	ENST00000293303.4	37	c.1753C>T	CCDS42340.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	19.33	3.807404	0.70797	.	.	ENSG00000161594	ENST00000293303	T	0.71934	-0.61	6.17	2.97	0.34412	.	0.126837	0.52532	D	0.000069	T	0.71525	0.3350	N	0.19112	0.55	0.41381	D	0.987552	D	0.89917	1.0	D	0.79784	0.993	T	0.68096	-0.5499	9	.	.	.	.	13.8515	0.63499	0.6021:0.3978:0.0:0.0	.	585	Q6JEL2	KLH10_HUMAN	W	585	ENSP00000293303:R585W	.	R	+	1	2	KLHL10	37258011	0.999000	0.42202	1.000000	0.80357	0.998000	0.95712	0.850000	0.27737	0.375000	0.24679	0.655000	0.94253	CGG		0.453	KLHL10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326535.1	NM_152467		4	145	0	0	0	1	0	4	145					T	40004485	C	T	40004485	3	4	305	1	0	0	0	0	1	0	0	0	8366	527	19	1	1771	1	KLHL10	17	40004485	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	31127	40004485	41190725	892	15409											
ACLY	47	broad.mit.edu	37	chr17	40034431	40034431	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	acaatgactccattggccacGagatcttcgtatacagacct	12	10	7	12	2	1	3	0	1	1	2	3	4	2	3	3	1	1	1	3	1	3	4	rs35022178	byFrequency	TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr17:40034431G>A	ENST00000352035.2	-	22	2542	c.2412C>T	c.(2410-2412)ctC>ctT	p.L804L	ACLY_ENST00000590151.1_Silent_p.L804L|ACLY_ENST00000353196.1_Silent_p.L794L|ACLY_ENST00000537919.1_Silent_p.L533L|ACLY_ENST00000393896.2_Silent_p.L794L	NM_001096.2	NP_001087.2	P53396	ACLY_HUMAN	ATP citrate lyase	804					ATP catabolic process (GO:0006200)|cellular carbohydrate metabolic process (GO:0044262)|cellular lipid metabolic process (GO:0044255)|citrate metabolic process (GO:0006101)|coenzyme A metabolic process (GO:0015936)|energy reserve metabolic process (GO:0006112)|lipid biosynthetic process (GO:0008610)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|positive regulation of cellular metabolic process (GO:0031325)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	citrate lyase complex (GO:0009346)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATP citrate synthase activity (GO:0003878)|cofactor binding (GO:0048037)|metal ion binding (GO:0046872)|succinate-CoA ligase (ADP-forming) activity (GO:0004775)		NTN1/ACLY(2)	breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(4)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	28		Breast(137;0.000143)				CATTGGCCACGAGATCTTCGT	0.502													G|||	10	0.00199681	0.0076	0	5008	,	,		17309	0		0	False		,,,				2504	0				Colon(64;807 1396 15971 30971)	ENST00000352035.2																		NTN1/ACLY(2)	0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(4)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	28						c.(2410-2412)ctC>ctT		ATP citrate lyase		G	,	30,4376	36.0+/-67.5	0,30,2173	38	32	34		2412,2382	-6.9	0.8	17	dbSNP_126	34	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	ACLY	NM_001096.2,NM_198830.1	,	0,30,6473	AA,AG,GG		0.0,0.6809,0.2307	,	804/1102,794/1092	40034431	30,12976	2203	4300	6503	SO:0001819	synonymous_variant	47				ATP catabolic process|cellular carbohydrate metabolic process|citrate metabolic process|coenzyme A metabolic process|energy reserve metabolic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	citrate lyase complex|cytosol|nucleus	ATP binding|ATP citrate synthase activity|citrate (pro-3S)-lyase activity|metal ion binding|protein binding|succinate-CoA ligase (ADP-forming) activity	g.chr17:40034431G>A	X64330	CCDS11412.1, CCDS11413.1	17q21.2	2010-04-27			ENSG00000131473	ENSG00000131473	2.3.3.8		115	protein-coding gene	gene with protein product	"ATP citrate synthase"	108728				1371749, 8088842	Standard	NM_001096		Approved	ATPCL, CLATP, ACL	uc002hyg.3	P53396	OTTHUMG00000133507	ENST00000352035.2:c.2412C>T	17.37:g.40034431G>A						ACLY_ENST00000590151.1_Silent_p.L804L|ACLY_ENST00000393896.2_Silent_p.L794L|ACLY_ENST00000537919.1_Silent_p.L533L|ACLY_ENST00000353196.1_Silent_p.L794L	p.L804L	NM_001096.2	NP_001087.2	P53396	ACLY_HUMAN			22	2542	-		Breast(137;0.000143)	804					B4DIM0|B4E3P0|Q13037|Q9BRL0	Silent	SNP	ENST00000352035.2	37	c.2412C>T	CCDS11412.1																																																																																				0.502	ACLY-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257465.1	NM_001096		9	36	0	0	0	1	0	9	36					A	40034431	G	A	40034431	2	1	305	1	0	0	0	0	0	0	0	1	143	1045	37	2		2	ACLY	17	40034431	Silent	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	29946	40034431	41160779	893	15410											
KCNH4	23415	broad.mit.edu	37	chr17	40330128	40330128	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgggactcacattattggccTtcatgcctccctggccccgg	5	11	10	15	1	2	0	2	0	0	0	3	1	3	1	5	4	1	0	5	4	1	3			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr17:40330128T>C	ENST00000264661.3	-	4	907	c.575A>G	c.(574-576)aAg>aGg	p.K192R	KCNH4_ENST00000607371.1_Missense_Mutation_p.K192R	NM_012285.2	NP_036417.1	Q9UQ05	KCNH4_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 4	192					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|urinary_tract(1)	32		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.126)		ATTATTGGCCTTCATGCCTCC	0.607																																					NSCLC(117;707 1703 2300 21308 31858)	ENST00000264661.3																			0				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|urinary_tract(1)	32						c.(574-576)aAg>aGg		potassium voltage-gated channel, subfamily H (eag-related), member 4							83	92	89					17																	40330128		2203	4300	6503	SO:0001583	missense	23415				regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	two-component sensor activity|voltage-gated potassium channel activity	g.chr17:40330128T>C	AB022698	CCDS11420.1	17q21	2012-07-05				ENSG00000089558		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6253	protein-coding gene	gene with protein product		604528				10455180, 16382104	Standard	NM_012285		Approved	Kv12.3, elk1	uc002hzb.2	Q9UQ05		ENST00000264661.3:c.575A>G	17.37:g.40330128T>C	ENSP00000264661:p.Lys192Arg					KCNH4_ENST00000607371.1_Missense_Mutation_p.K192R	p.K192R	NM_012285.2	NP_036417.1	Q9UQ05	KCNH4_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.126)	4	907	-		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)	192						Missense_Mutation	SNP	ENST00000264661.3	37	c.575A>G	CCDS11420.1	.	.	.	.	.	.	.	.	.	.	T	18.32	3.598913	0.66332	.	.	ENSG00000089558	ENST00000264661	D	0.98978	-5.29	4.86	3.77	0.43336	.	0.000000	0.42964	D	0.000626	D	0.98617	0.9537	M	0.61703	1.905	0.35357	D	0.787857	D	0.59357	0.985	P	0.58660	0.843	D	0.99946	1.1469	10	0.54805	T	0.06	.	11.1139	0.48249	0.0:0.0:0.1552:0.8448	.	192	Q9UQ05	KCNH4_HUMAN	R	192	ENSP00000264661:K192R	ENSP00000264661:K192R	K	-	2	0	KCNH4	37583654	1.000000	0.71417	0.879000	0.34478	0.833000	0.47200	4.287000	0.59001	0.865000	0.35603	0.383000	0.25322	AAG		0.607	KCNH4-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449791.2	NM_012285		39	108	0	0	0	1	0	39	108					C	40330128	T	C	40330128	3	2	305	1	0	0	0	0	1	0	0	0	8034	1609	56	4	2530	4	KCNH4	17	40330128	Missense_Mutation	SNP	T	TCGA-KK-A59V-01A-11D-A29Q-08	295697	40330128	40865082	894	15411											
GHDC	84514	broad.mit.edu	37	chr17	40342329	40342329	+	Intron	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cacacatacttccggtgaatGggcagctgccaagtctagtg	10	9	11	11	1	1	1	0	1	1	0	2	1	2	1	2	2	3	2	2	2	4	3			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr17:40342329G>T	ENST00000301671.8	-	8	1730				GHDC_ENST00000428494.2_Intron|GHDC_ENST00000590520.1_5'Flank|GHDC_ENST00000587427.1_Intron|GHDC_ENST00000593209.1_Intron|GHDC_ENST00000414034.3_Missense_Mutation_p.P446Q|GHDC_ENST00000436923.2_Missense_Mutation_p.P446Q			Q8N2G8	GHDC_HUMAN	GH3 domain containing							endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleus (GO:0005634)				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13		all_cancers(22;0.000229)|Breast(137;0.00104)|all_epithelial(22;0.00304)		BRCA - Breast invasive adenocarcinoma(366;0.124)		TCCGGTGAATGGGCAGCTGCC	0.537																																						ENST00000414034.3																			0				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						c.(1336-1338)cCa>cAa		GH3 domain containing							76	68	71					17																	40342329		2203	4300	6503	SO:0001627	intron_variant	84514					endoplasmic reticulum|nuclear envelope		g.chr17:40342329G>T	AF316997, BC011056	CCDS11422.1, CCDS45682.1	17q21.2	2006-08-02				ENSG00000167925			24438	protein-coding gene	gene with protein product		608587				11161808, 11735219	Standard	NR_024573		Approved	LGP1	uc002hzf.4	Q8N2G8		ENST00000301671.8:c.1289-41C>A	17.37:g.40342329G>T						GHDC_ENST00000593209.1_Intron|GHDC_ENST00000301671.8_Intron|GHDC_ENST00000587427.1_Intron|GHDC_ENST00000428494.2_Intron|GHDC_ENST00000436923.2_Missense_Mutation_p.P446Q	p.P446Q	NM_001142623.1	NP_001136095.1	Q8N2G8	GHDC_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.124)	9	1535	-		all_cancers(22;0.000229)|Breast(137;0.00104)|all_epithelial(22;0.00304)	363					B4DQS4|E9PDB5|Q9BXM6	Missense_Mutation	SNP	ENST00000301671.8	37	c.1337C>A	CCDS11422.1	.	.	.	.	.	.	.	.	.	.	G	14.48	2.548113	0.45383	.	.	ENSG00000167925	ENST00000414034;ENST00000436923	.	.	.	4.31	-0.193	0.13244	.	.	.	.	.	T	0.27594	0.0678	.	.	.	0.09310	N	1	P	0.48016	0.904	B	0.42798	0.398	T	0.14448	-1.0472	7	0.56958	D	0.05	.	4.0854	0.09945	0.3145:0.1731:0.5123:0.0	.	446	Q8N2G8-2	.	Q	446	.	ENSP00000399952:P446Q	P	-	2	0	GHDC	37595855	0.000000	0.05858	0.000000	0.03702	0.023000	0.10783	-1.258000	0.02863	-0.147000	0.11254	0.561000	0.74099	CCA		0.537	GHDC-006	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000449794.1	NM_032484		15	26	1	0	1.49906e-05	1	1.53742e-05	15	26					T	40342329	G	T	40342329	1	4	305	0	1	0	0	0	0	0	0	0	6369	1348	47	5		5	GHDC	17	40342329	Intron	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	12201	40342329	40852881	895	15412											
CNTNAP1	8506	broad.mit.edu	37	chr17	40849591	40849591	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gagacaggagtcattgacccGgagatccagcgctacaacac	13	5	11	12	2	1	3	1	1	0	2	2	6	2	4	2	2	3	1	2	2	2	2	rs142952244	byFrequency	TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr17:40849591G>A	ENST00000264638.4	+	22	3805	c.3588G>A	c.(3586-3588)ccG>ccA	p.P1196P	CTD-3193K9.3_ENST00000592440.1_RNA	NM_003632.2	NP_003623.1	P78357	CNTP1_HUMAN	contactin associated protein 1	1196	Laminin G-like 4. {ECO:0000255|PROSITE- ProRule:PRU00122}.				axon cargo transport (GO:0008088)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cytoskeleton organization (GO:0007010)|neuromuscular process controlling balance (GO:0050885)|neuromuscular process controlling posture (GO:0050884)|neuron projection morphogenesis (GO:0048812)|neuronal action potential propagation (GO:0019227)|paranodal junction assembly (GO:0030913)|positive regulation of signal transduction (GO:0009967)|protein localization to paranode region of axon (GO:0002175)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|paranode region of axon (GO:0033270)|voltage-gated potassium channel complex (GO:0008076)	receptor activity (GO:0004872)|SH3 domain binding (GO:0017124)|SH3/SH2 adaptor activity (GO:0005070)			NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|lung(15)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.143)		TCATTGACCCGGAGATCCAGC	0.577													G|||	2	0.000399361	0	0.0014	5008	,	,		15759	0		0.001	False		,,,				2504	0					ENST00000264638.4																			0				NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|lung(15)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						c.(3586-3588)ccG>ccA		contactin associated protein 1		G		3,4403	6.2+/-15.9	0,3,2200	91	87	88		3588	-11	0	17	dbSNP_134	88	29,8571	20.4+/-63.3	0,29,4271	no	coding-synonymous	CNTNAP1	NM_003632.2		0,32,6471	AA,AG,GG		0.3372,0.0681,0.246		1196/1385	40849591	32,12974	2203	4300	6503	SO:0001819	synonymous_variant	8506				axon guidance|cell adhesion	paranode region of axon	receptor activity|receptor binding|SH3 domain binding|SH3/SH2 adaptor activity	g.chr17:40849591G>A	U87223	CCDS11436.1	17q21	2008-07-18				ENSG00000108797			8011	protein-coding gene	gene with protein product	"neurexin 4"	602346		NRXN4		9118959	Standard	NM_003632		Approved	p190, Caspr, CNTNAP	uc002iay.3	P78357		ENST00000264638.4:c.3588G>A	17.37:g.40849591G>A						CTD-3193K9.3_ENST00000592440.1_RNA	p.P1196P	NM_003632.2	NP_003623.1	P78357	CNTP1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.143)	22	3805	+		Breast(137;0.000143)	1196			Laminin G-like 4.			Silent	SNP	ENST00000264638.4	37	c.3588G>A	CCDS11436.1																																																																																				0.577	CNTNAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452342.1	NM_003632		28	74	0	0	0	1	0	28	74					A	40849591	G	A	40849591	2	1	305	1	0	0	0	0	0	0	0	1	3646	1103	39	2		2	CNTNAP1	17	40849591	Silent	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	507262	40849591	40345619	896	15413											
RAMP2	10266	broad.mit.edu	37	chr17	40914372	40914372	+	Splice_Site	DEL	G	G	-																															gtgtagcatctgtacctacaGgggggacggtgaagaactat																										TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr17:40914372delG	ENST00000253796.5	+	3	231		c.e3-1		RAMP2_ENST00000589683.1_Splice_Site|RAMP2_ENST00000588576.1_Intron|RAMP2_ENST00000587142.1_Frame_Shift_Del_p.G61fs|RAMP2-AS1_ENST00000592670.1_lincRNA	NM_005854.2	NP_005845.2	O60895	RAMP2_HUMAN	receptor (G protein-coupled) activity modifying protein 2						adherens junction assembly (GO:0034333)|angiogenesis (GO:0001525)|basement membrane assembly (GO:0070831)|calcium ion transport (GO:0006816)|cAMP biosynthetic process (GO:0006171)|cellular response to hormone stimulus (GO:0032870)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|female pregnancy (GO:0007565)|G-protein coupled receptor signaling pathway (GO:0007186)|heart development (GO:0007507)|intracellular protein transport (GO:0006886)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of vascular permeability (GO:0043116)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of gene expression (GO:0010628)|positive regulation of vasculogenesis (GO:2001214)|protein localization to plasma membrane (GO:0072659)|protein transport (GO:0015031)|receptor internalization (GO:0031623)|regulation of blood pressure (GO:0008217)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|response to estradiol (GO:0032355)|response to hypoxia (GO:0001666)|response to progesterone (GO:0032570)|sprouting angiogenesis (GO:0002040)|tight junction assembly (GO:0070830)|vascular smooth muscle cell development (GO:0097084)|vasculogenesis (GO:0001570)	cell surface (GO:0009986)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	coreceptor activity (GO:0015026)|protein transporter activity (GO:0008565)			endometrium(2)|lung(1)|stomach(1)	4		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.0741)	Pramlintide(DB01278)	TGTACCTACAGGGGGGACGGT	0.507																																						ENST00000587142.1																			0				endometrium(2)|lung(1)|stomach(1)	4						c.(178-180)ggfs		receptor (G protein-coupled) activity modifying protein 2	Pramlintide(DB01278)						139	135	137					17																	40914372		2203	4300	6503	SO:0001630	splice_region_variant	10266				intracellular protein transport|receptor-mediated endocytosis|regulation of G-protein coupled receptor protein signaling pathway	coated pit|integral to plasma membrane|lysosome	protein transporter activity	g.chr17:40914372delG	AJ001015	CCDS11437.1	17q12-q21.1	2012-08-17	2006-11-21		ENSG00000131477	ENSG00000131477		"Receptor (G protein-coupled) activity modifying proteins"	9844	protein-coding gene	gene with protein product		605154	"receptor activity modifying protein 2", "receptor (calcitonin) activity modifying protein 2"				Standard	NM_005854		Approved		uc002ibg.3	O60895		ENST00000253796.5:c.164-1G>-	17.37:g.40914372delG						RAMP2_ENST00000588576.1_Intron|RAMP2_ENST00000589683.1_Splice_Site|RAMP2_ENST00000253796.5_Splice_Site	p.G61fs			O60895	RAMP2_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.0741)	3	182	+		Breast(137;0.000143)	56					A7L9S6|K7EMD3|Q8N1F2	Frame_Shift_Del	DEL	ENST00000253796.5	37	c.178delG	CCDS11437.1																																																																																				0.507	RAMP2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000452380.1	NM_005854	Intron	32	152						32	152	---	---	---	---	-	40914372	G	-	40914372	8	5	305	1	0	1	0	1	0	0	1	0	13022	1014	35	0	173	0	RAMP2	17	40914372	Splice_Site	DEL	G	TCGA-KK-A59V-01A-11D-A29Q-08	64781	40914372	40280838	897	15414											
HDAC5	10014	broad.mit.edu	37	chr17	42170121	42170121	+	Frame_Shift_Del	DEL	G	G	-																															tgtaggagggaggcgtcccaGgggggccgctctggggaggg																										TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr17:42170121delG	ENST00000393622.2	-	7	1026	c.695delC	c.(694-696)cctfs	p.P232fs	HDAC5_ENST00000225983.6_Frame_Shift_Del_p.P233fs|HDAC5_ENST00000336057.5_Frame_Shift_Del_p.P232fs|HDAC5_ENST00000586802.1_Frame_Shift_Del_p.P232fs	NM_001015053.1|NM_005474.4	NP_001015053.1|NP_005465.2	Q9UQL6	HDAC5_HUMAN	histone deacetylase 5	232					B cell activation (GO:0042113)|B cell differentiation (GO:0030183)|cellular response to insulin stimulus (GO:0032869)|chromatin modification (GO:0016568)|chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|chromatin silencing (GO:0006342)|heart development (GO:0007507)|histone deacetylation (GO:0016575)|inflammatory response (GO:0006954)|multicellular organismal response to stress (GO:0033555)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|osteoblast development (GO:0002076)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of gene expression, epigenetic (GO:0040029)|regulation of myotube differentiation (GO:0010830)|regulation of protein binding (GO:0043393)|regulation of skeletal muscle fiber development (GO:0048742)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|histone deacetylase complex (GO:0000118)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	core promoter binding (GO:0001047)|histone deacetylase activity (GO:0004407)|metal ion binding (GO:0046872)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|protein kinase C binding (GO:0005080)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(7)|ovary(1)|prostate(2)|skin(1)	21		Breast(137;0.00637)|Prostate(33;0.0313)		BRCA - Breast invasive adenocarcinoma(366;0.118)		AGGCGTCCCAGGGGGGCCGCT	0.647																																						ENST00000225983.6																			0				central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(7)|ovary(1)|prostate(2)|skin(1)	21						c.(697-699)ctfs		histone deacetylase 5							20	25	24					17																	42170121		2146	4230	6376	SO:0001589	frameshift_variant	10014				B cell differentiation|cellular response to insulin stimulus|chromatin remodeling|chromatin silencing|inflammatory response|negative regulation of cell migration involved in sprouting angiogenesis|negative regulation of myotube differentiation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|transcription, DNA-dependent	cytoplasm|histone deacetylase complex	histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein kinase C binding|repressing transcription factor binding	g.chr17:42170121delG	AF249731	CCDS32663.1, CCDS45696.1	17q21	2008-07-18					3.5.1.98		14068	protein-coding gene	gene with protein product		605315				10220385, 9610721	Standard	XM_005256905		Approved	KIAA0600, NY-CO-9, FLJ90614	uc002iff.1	Q9UQL6		ENST00000393622.2:c.695delC	17.37:g.42170121delG	ENSP00000377244:p.Pro232fs					HDAC5_ENST00000586802.1_Frame_Shift_Del_p.P232fs|HDAC5_ENST00000393622.2_Frame_Shift_Del_p.P232fs|HDAC5_ENST00000336057.5_Frame_Shift_Del_p.P232fs	p.P233fs			Q9UQL6	HDAC5_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.118)	7	1021	-		Breast(137;0.00637)|Prostate(33;0.0313)	232					C9JFV9|O60340|O60528|Q96DY4	Frame_Shift_Del	DEL	ENST00000393622.2	37	c.698delC	CCDS45696.1																																																																																				0.647	HDAC5-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000457686.1	NM_001015053		15	46						15	46	---	---	---	---	-	42170121	G	-	42170121	7	5	305	1	0	1	0	1	0	0	0	0	7010	1000	35	0	2757	0	HDAC5	17	42170121	Frame_Shift_Del	DEL	G	TCGA-KK-A59V-01A-11D-A29Q-08	1255749	42170121	39025089	898	15415											
ITGA2B	3674	broad.mit.edu	37	chr17	42457470	42457470	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gagagcccagcagcagcaccCgccggccctggcggggcttc	6	3	15	17	3	0	1	0	0	0	1	1	2	0	1	4	4	4	4	4	4	0	1			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr17:42457470C>T	ENST00000262407.5	-	17	1683	c.1652G>A	c.(1651-1653)cGg>cAg	p.R551Q	ITGA2B_ENST00000353281.4_Missense_Mutation_p.R551Q|ITGA2B_ENST00000377068.3_3'UTR	NM_000419.3	NP_000410.2	P08514	ITA2B_HUMAN	integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41)	551					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of leukocyte migration (GO:0002687)	blood microparticle (GO:0072562)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)|platelet alpha granule membrane (GO:0031092)	extracellular matrix binding (GO:0050840)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)			biliary_tract(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.191)	Abciximab(DB00054)|Tirofiban(DB00775)	CAGCAGCACCCGCCGGCCCTG	0.672																																						ENST00000262407.5																			0				biliary_tract(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						c.(1651-1653)cGg>cAg		integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41)	Tirofiban(DB00775)						24	29	27					17																	42457470		2192	4268	6460	SO:0001583	missense	3674				axon guidance|integrin-mediated signaling pathway|platelet activation|platelet degranulation	integrin complex|platelet alpha granule membrane	identical protein binding|receptor activity	g.chr17:42457470C>T		CCDS32665.1	17q21.32	2014-09-17	2006-02-22			ENSG00000005961		"CD molecules", "Integrins"	6138	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 93"	607759	"integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41B)"	GP2B			Standard	NM_000419		Approved	CD41B, CD41, PPP1R93	uc002igt.1	P08514		ENST00000262407.5:c.1652G>A	17.37:g.42457470C>T	ENSP00000262407:p.Arg551Gln					ITGA2B_ENST00000377068.3_3'UTR|ITGA2B_ENST00000353281.4_Missense_Mutation_p.R551Q	p.R551Q	NM_000419.3	NP_000410.2	P08514	ITA2B_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.191)	17	1683	-		Prostate(33;0.0181)	551					B2RCY8|O95366|Q14443|Q17R67	Missense_Mutation	SNP	ENST00000262407.5	37	c.1652G>A	CCDS32665.1	.	.	.	.	.	.	.	.	.	.	C	36	5.612536	0.96637	.	.	ENSG00000005961	ENST00000262407;ENST00000353281	T;T	0.79940	-1.32;-1.32	4.84	4.84	0.62591	Integrin alpha-2 (1);	0.000000	0.32244	N	0.006375	D	0.91717	0.7381	M	0.90977	3.165	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.93506	0.6849	10	0.87932	D	0	.	16.8865	0.86077	0.0:1.0:0.0:0.0	.	149;551	Q59FA8;P08514	.;ITA2B_HUMAN	Q	551	ENSP00000262407:R551Q;ENSP00000340536:R551Q	ENSP00000262407:R551Q	R	-	2	0	ITGA2B	39812996	0.924000	0.31332	0.984000	0.44739	0.951000	0.60555	6.021000	0.70832	2.508000	0.84585	0.555000	0.69702	CGG		0.672	ITGA2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439823.1			21	38	0	0	0	1	0	21	38					T	42457470	C	T	42457470	3	4	305	1	0	0	0	0	1	0	0	0	7876	652	23	2	1523	2	ITGA2B	17	42457470	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	287349	42457470	38737740	899	15416											
CRHR1	1394	broad.mit.edu	37	chr17	43907568	43907568	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	accatgagccccgaggtccaCcagagcaacgtggtacgtcc	10	5	11	15	3	0	2	0	1	0	1	2	3	2	2	6	2	4	2	6	2	2	1			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr17:43907568C>T	ENST00000398285.3	+	7	630	c.630C>T	c.(628-630)caC>caT	p.H210H	CRHR1_ENST00000577353.1_Silent_p.H181H|CRHR1_ENST00000352855.5_Silent_p.H141H|CRHR1_ENST00000339069.5_Silent_p.H80H|CRHR1_ENST00000314537.5_Silent_p.H181H|CRHR1_ENST00000293493.7_Silent_p.H6H	NM_001145146.1	NP_001138618.1	P34998	CRFR1_HUMAN	corticotropin releasing hormone receptor 1	210					activation of adenylate cyclase activity (GO:0007190)|adrenal gland development (GO:0030325)|behavioral response to cocaine (GO:0048148)|behavioral response to ethanol (GO:0048149)|behavioral response to pain (GO:0048266)|cellular response to corticotropin-releasing hormone stimulus (GO:0071376)|corticotropin secretion (GO:0051458)|epithelial cell differentiation (GO:0030855)|fear response (GO:0042596)|female pregnancy (GO:0007565)|general adaptation syndrome, behavioral process (GO:0051867)|hypothalamus development (GO:0021854)|immune response (GO:0006955)|locomotory exploration behavior (GO:0035641)|long-term synaptic potentiation (GO:0060291)|memory (GO:0007613)|negative regulation of epinephrine secretion (GO:0032811)|negative regulation of feeding behavior (GO:2000252)|negative regulation of neuron death (GO:1901215)|negative regulation of voltage-gated calcium channel activity (GO:1901386)|neuropeptide signaling pathway (GO:0007218)|parturition (GO:0007567)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of adenylate cyclase activity involved in G-protein coupled receptor signaling pathway (GO:0010579)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of mast cell degranulation (GO:0043306)|regulation of adenylate cyclase activity involved in G-protein coupled receptor signaling pathway (GO:0010578)|regulation of corticosterone secretion (GO:2000852)|response to hypoxia (GO:0001666)|response to immobilization stress (GO:0035902)|visual learning (GO:0008542)	apical part of cell (GO:0045177)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|multivesicular body (GO:0005771)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)|vesicle (GO:0031982)	corticotrophin-releasing factor receptor activity (GO:0015056)|corticotropin-releasing hormone binding (GO:0051424)|corticotropin-releasing hormone receptor activity (GO:0043404)			NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(15)|pancreas(1)|skin(1)	24	Colorectal(2;0.0416)			BRCA - Breast invasive adenocarcinoma(366;0.161)		CCGAGGTCCACCAGAGCAACG	0.647																																					Ovarian(110;57 1568 10207 38216 49865)	ENST00000314537.5																			0				NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(15)|pancreas(1)|skin(1)	24						c.(541-543)caC>caT		corticotropin releasing hormone receptor 1							70	70	70					17																	43907568		2165	4256	6421	SO:0001819	synonymous_variant	1394				female pregnancy|immune response|parturition	integral to plasma membrane	corticotrophin-releasing factor receptor activity|protein binding	g.chr17:43907568C>T	L23332	CCDS42350.1, CCDS45712.1, CCDS45713.1, CCDS45714.1	17q12-q22	2012-08-14			ENSG00000120088	ENSG00000120088		"GPCR / Class B : Corticotropin-releasing factor receptors"	2357	protein-coding gene	gene with protein product	"corticotropin-releasing factor receptor"	122561		CRHR		7590738	Standard	NM_004382		Approved	CRF-R, CRF1	uc010dap.3	P34998		ENST00000398285.3:c.630C>T	17.37:g.43907568C>T						CRHR1_ENST00000577353.1_Silent_p.H181H|CRHR1_ENST00000398285.3_Silent_p.H210H|CRHR1_ENST00000352855.5_Silent_p.H141H|CRHR1_ENST00000293493.7_Silent_p.H6H|CRHR1_ENST00000339069.5_Silent_p.H80H	p.H181H	NM_001145147.1|NM_001145148.1|NM_004382.4	NP_001138619.1|NP_001138620.1|NP_004373.2	P34998	CRFR1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.161)	6	768	+	Colorectal(2;0.0416)		210					B4DIE9|Q13008|Q4QRJ1|Q9UK64	Silent	SNP	ENST00000398285.3	37	c.543C>T	CCDS45712.1																																																																																				0.647	CRHR1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000441241.3			6	57	0	0	0	1	0	6	57					T	43907568	C	T	43907568	2	4	305	1	0	0	0	0	0	0	0	1	3871	506	18	3		3	CRHR1	17	43907568	Silent	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	1450098	43907568	37287642	900	15417											
MYST2	11143	broad.mit.edu	37	chr17	47904070	47904070	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcagaaatcagtcaggagaCggctgtgaatcctgtggaca	12	9	12	8	1	3	3	3	1	0	2	4	5	4	4	1	3	0	1	1	3	2	1			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr17:47904070C>T	ENST00000259021.4	+	14	1923	c.1643C>T	c.(1642-1644)aCg>aTg	p.T548M	KAT7_ENST00000454930.2_Missense_Mutation_p.T409M|KAT7_ENST00000435742.2_Missense_Mutation_p.T362M|KAT7_ENST00000509773.1_Missense_Mutation_p.T438M|KAT7_ENST00000503935.2_Missense_Mutation_p.T392M|KAT7_ENST00000424009.2_Missense_Mutation_p.T518M|KAT7_ENST00000510819.1_Missense_Mutation_p.T379M|KAT7_ENST00000513980.1_3'UTR	NM_007067.4	NP_008998.1	O95251	KAT7_HUMAN	K(lysine) acetyltransferase 7	548	MYST-type HAT.				chromatin organization (GO:0006325)|DNA replication (GO:0006260)|histone H3 acetylation (GO:0043966)|histone H4-K12 acetylation (GO:0043983)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	histone acetyltransferase activity (GO:0004402)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.T548M(1)									AGTCAGGAGACGGCTGTGAAT	0.478																																						ENST00000503935.2																			1	Substitution - Missense(1)	p.T548M(1)	endometrium(1)								c.(1174-1176)aCg>aTg		K(lysine) acetyltransferase 7							130	120	123					17																	47904070		2203	4300	6503	SO:0001583	missense	11143				DNA replication|histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation	histone acetyltransferase complex	histone acetyltransferase activity|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr17:47904070C>T	AF074606	CCDS11554.1, CCDS56035.1, CCDS56036.1, CCDS56037.1, CCDS56038.1	17q21.32	2013-01-10	2011-07-21	2011-07-21	ENSG00000136504	ENSG00000136504	2.3.1.48	"Chromatin-modifying enzymes / K-acetyltransferases", "Zinc fingers, C2HC-type containing"	17016	protein-coding gene	gene with protein product	"histone acetyltransferase binding to ORC1"	609880	"MYST histone acetyltransferase 2"	MYST2		10438470, 10930412	Standard	NM_001199155		Approved	HBOA, HBO1, ZC2HC7	uc002ipm.3	O95251	OTTHUMG00000161770	ENST00000259021.4:c.1643C>T	17.37:g.47904070C>T	ENSP00000259021:p.Thr548Met					KAT7_ENST00000454930.2_Missense_Mutation_p.T409M|KAT7_ENST00000435742.2_Missense_Mutation_p.T362M|KAT7_ENST00000424009.2_Missense_Mutation_p.T518M|KAT7_ENST00000509773.1_Missense_Mutation_p.T438M|KAT7_ENST00000510819.1_Missense_Mutation_p.T379M|KAT7_ENST00000513980.1_3'UTR|KAT7_ENST00000259021.4_Missense_Mutation_p.T548M	p.T392M			O95251	MYST2_HUMAN			14	2211	+			548					B3KN74|B4DF85|B4DFB4|B4DFE0|B4DGY4|E7ER15|G5E9K7	Missense_Mutation	SNP	ENST00000259021.4	37	c.1175C>T	CCDS11554.1	.	.	.	.	.	.	.	.	.	.	C	28.0	4.881765	0.91740	.	.	ENSG00000136504	ENST00000259021;ENST00000454930;ENST00000509773;ENST00000510819;ENST00000424009;ENST00000503935;ENST00000435742	.	.	.	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	T	0.76278	0.3965	L	0.60845	1.875	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.87578	0.992;0.998;0.987;0.992;0.994	T	0.69939	-0.5009	9	0.25751	T	0.34	-14.0	19.2067	0.93734	0.0:1.0:0.0:0.0	.	511;379;438;409;548	B4DGY4;B4DFE0;B4DFB4;E7ER15;O95251	.;.;.;.;KAT7_HUMAN	M	548;409;438;379;518;392;362	.	ENSP00000259021:T548M	T	+	2	0	KAT7	45259069	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.651000	0.83577	2.873000	0.98535	0.561000	0.74099	ACG		0.478	KAT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366032.1	NM_007067		8	154	0	0	0	1	0	8	154					T	47904070	C	T	47904070	3	4	305	1	0	0	0	0	1	0	0	0	10103	536	19	1	1697	1	MYST2	17	47904070	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	3996502	47904070	33291140	901	15418											
DLX4	1748	broad.mit.edu	37	chr17	48051191	48051191	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgctccccacccctccccTccctctgggatctacccaag	5	8	5	23	0	2	0	0	0	2	0	5	1	5	1	9	1	2	1	9	1	2	1	rs201875580		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr17:48051191T>C	ENST00000240306.3	+	3	902	c.607T>C	c.(607-609)Tcc>Ccc	p.S203P	DLX4_ENST00000411890.2_Missense_Mutation_p.S131P	NM_138281.2	NP_612138.1	Q92988	DLX4_HUMAN	distal-less homeobox 4	203				S -> Y (in Ref. 1; AAC50942). {ECO:0000305}.	multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(3)	10						ACCCCTCCCCTCCCTCTGGGA	0.592																																						ENST00000240306.3																			0				central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(3)	10						c.(607-609)Tcc>Ccc		distal-less homeobox 4							59	63	62					17																	48051191		2203	4300	6503	SO:0001583	missense	0				multicellular organismal development	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr17:48051191T>C		CCDS11555.1, CCDS45728.1	17q21.33	2011-06-20			ENSG00000108813	ENSG00000108813		"Homeoboxes / ANTP class : NKL subclass"	2917	protein-coding gene	gene with protein product		601911		DLX7, DLX9			Standard	NM_138281		Approved	DLX8, BP1	uc002ipv.3	Q92988	OTTHUMG00000161839	ENST00000240306.3:c.607T>C	17.37:g.48051191T>C	ENSP00000240306:p.Ser203Pro					DLX4_ENST00000411890.2_Missense_Mutation_p.S131P	p.S203P	NM_138281.2	NP_612138.1	Q92988	DLX4_HUMAN			3	902	+			203	S -> Y (in Ref. 1; AAC50942).				D3DTX2|D3DTX3|O60480|Q13265|Q6PJK0|Q9HBE0	Missense_Mutation	SNP	ENST00000240306.3	37	c.607T>C	CCDS11555.1	.	.	.	.	.	.	.	.	.	.	T	1.239	-0.621829	0.03636	.	.	ENSG00000108813	ENST00000240306;ENST00000411890	D;D	0.92446	-2.81;-3.04	5.14	0.303	0.15791	.	.	.	.	.	T	0.77751	0.4177	N	0.10945	0.07	0.09310	N	1	B;B	0.06786	0.0;0.001	B;B	0.08055	0.003;0.002	T	0.63292	-0.6670	9	0.02654	T	1	-5.1949	5.7529	0.18156	0.0:0.1607:0.453:0.3863	.	131;203	Q92988-2;Q92988	.;DLX4_HUMAN	P	203;131	ENSP00000240306:S203P;ENSP00000410622:S131P	ENSP00000240306:S203P	S	+	1	0	DLX4	45406190	0.019000	0.18553	0.022000	0.16811	0.891000	0.51852	0.711000	0.25764	-0.146000	0.11274	0.459000	0.35465	TCC		0.592	DLX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366214.1			4	105	0	0	0	1	0	4	105					C	48051191	T	C	48051191	3	2	305	1	0	0	0	0	1	0	0	0	4573	1551	54	4	684	4	DLX4	17	48051191	Missense_Mutation	SNP	T	TCGA-KK-A59V-01A-11D-A29Q-08	147121	48051191	33144019	902	15419											
CACNA1G	8913	broad.mit.edu	37	chr17	48668820	48668820	+	Frame_Shift_Del	DEL	G	G	-																															tgggagatcgtgggccagcaGgggggcggcctgtcggtgct																										TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr17:48668820delG	ENST00000359106.5	+	11	2478	c.2478delG	c.(2476-2478)cagfs	p.Q826fs	CACNA1G_ENST00000507336.1_Frame_Shift_Del_p.Q826fs|CACNA1G_ENST00000515765.1_Frame_Shift_Del_p.Q826fs|CACNA1G_ENST00000514079.1_Frame_Shift_Del_p.Q826fs|CACNA1G_ENST00000360761.4_Frame_Shift_Del_p.Q826fs|CACNA1G_ENST00000429973.2_Frame_Shift_Del_p.Q826fs|CACNA1G_ENST00000507896.1_Frame_Shift_Del_p.Q826fs|CACNA1G_ENST00000515411.1_Frame_Shift_Del_p.Q826fs|CACNA1G_ENST00000507609.1_Frame_Shift_Del_p.Q826fs|CACNA1G_ENST00000513689.2_Frame_Shift_Del_p.Q826fs|CACNA1G_ENST00000507510.2_Frame_Shift_Del_p.Q826fs|CACNA1G_ENST00000354983.4_Frame_Shift_Del_p.Q826fs|CACNA1G_ENST00000510115.1_Frame_Shift_Del_p.Q826fs|CACNA1G_ENST00000442258.2_Frame_Shift_Del_p.Q826fs|CACNA1G_ENST00000510366.1_Frame_Shift_Del_p.Q826fs|CACNA1G_ENST00000416767.4_Frame_Shift_Del_p.Q826fs|CACNA1G_ENST00000512389.1_Frame_Shift_Del_p.Q826fs|CACNA1G_ENST00000514181.1_Frame_Shift_Del_p.Q826fs|CACNA1G_ENST00000503485.1_Frame_Shift_Del_p.Q826fs|CACNA1G_ENST00000514717.1_Frame_Shift_Del_p.Q826fs|CACNA1G_ENST00000505165.1_Frame_Shift_Del_p.Q826fs|CACNA1G_ENST00000515165.1_Frame_Shift_Del_p.Q826fs|CACNA1G_ENST00000502264.1_Frame_Shift_Del_p.Q826fs|CACNA1G_ENST00000358244.5_Frame_Shift_Del_p.Q826fs|CACNA1G_ENST00000352832.5_Frame_Shift_Del_p.Q826fs|CACNA1G_ENST00000513964.1_Frame_Shift_Del_p.Q826fs	NM_018896.4	NP_061496.2	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit	826					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|membrane depolarization during action potential (GO:0086010)|positive regulation of calcium ion-dependent exocytosis (GO:0045956)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of heart rate (GO:0002027)|regulation of membrane potential (GO:0042391)|response to nickel cation (GO:0010045)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	low voltage-gated calcium channel activity (GO:0008332)|scaffold protein binding (GO:0097110)			breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Cinnarizine(DB00568)|Ethosuximide(DB00593)|Flunarizine(DB04841)|Methsuximide(DB05246)|Spironolactone(DB00421)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	TGGGCCAGCAGGGGGGCGGCC	0.682																																						ENST00000352832.5																			0				breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47						c.(2476-2478)cafs		calcium channel, voltage-dependent, T type, alpha 1G subunit	Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)						20	26	24					17																	48668820		2163	4235	6398	SO:0001589	frameshift_variant	8913				axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity	g.chr17:48668820delG	AC004590	CCDS45730.1, CCDS45731.1, CCDS45732.1, CCDS45733.1, CCDS45734.1, CCDS45735.1, CCDS45736.1, CCDS45737.1, CCDS54142.1, CCDS54143.1, CCDS54144.1, CCDS54145.1, CCDS54146.1, CCDS58565.1, CCDS58566.1, CCDS58567.1, CCDS58568.1, CCDS58569.1, CCDS58570.1, CCDS58571.1, CCDS58572.1, CCDS58573.1, CCDS58574.1, CCDS58575.1, CCDS58576.1	17q22	2012-03-07	2007-02-16		ENSG00000006283	ENSG00000006283		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1394	protein-coding gene	gene with protein product		604065				9495342, 16382099	Standard	NM_001256334		Approved	Cav3.1, NBR13	uc002irk.2	O43497	OTTHUMG00000162180	ENST00000359106.5:c.2478delG	17.37:g.48668820delG	ENSP00000352011:p.Gln826fs					CACNA1G_ENST00000515765.1_Frame_Shift_Del_p.Q826fs|CACNA1G_ENST00000507896.1_Frame_Shift_Del_p.Q826fs|CACNA1G_ENST00000515165.1_Frame_Shift_Del_p.Q826fs|CACNA1G_ENST00000359106.5_Frame_Shift_Del_p.Q826fs|CACNA1G_ENST00000358244.5_Frame_Shift_Del_p.Q826fs|CACNA1G_ENST00000507609.1_Frame_Shift_Del_p.Q826fs|CACNA1G_ENST00000354983.4_Frame_Shift_Del_p.Q826fs|CACNA1G_ENST00000514717.1_Frame_Shift_Del_p.Q826fs|CACNA1G_ENST00000514181.1_Frame_Shift_Del_p.Q826fs|CACNA1G_ENST00000514079.1_Frame_Shift_Del_p.Q826fs|CACNA1G_ENST00000513964.1_Frame_Shift_Del_p.Q826fs|CACNA1G_ENST00000513689.2_Frame_Shift_Del_p.Q826fs|CACNA1G_ENST00000505165.1_Frame_Shift_Del_p.Q826fs|CACNA1G_ENST00000510115.1_Frame_Shift_Del_p.Q826fs|CACNA1G_ENST00000507510.2_Frame_Shift_Del_p.Q826fs|CACNA1G_ENST00000442258.2_Frame_Shift_Del_p.Q826fs|CACNA1G_ENST00000512389.1_Frame_Shift_Del_p.Q826fs|CACNA1G_ENST00000503485.1_Frame_Shift_Del_p.Q826fs|CACNA1G_ENST00000502264.1_Frame_Shift_Del_p.Q826fs|CACNA1G_ENST00000515411.1_Frame_Shift_Del_p.Q826fs|CACNA1G_ENST00000510366.1_Frame_Shift_Del_p.Q826fs|CACNA1G_ENST00000416767.4_Frame_Shift_Del_p.Q826fs|CACNA1G_ENST00000429973.2_Frame_Shift_Del_p.Q826fs|CACNA1G_ENST00000360761.4_Frame_Shift_Del_p.Q826fs|CACNA1G_ENST00000507336.1_Frame_Shift_Del_p.Q826fs	p.Q826fs	NM_001256334.1|NM_198376.2|NM_198379.2|NM_198387.2|NM_198388.2	NP_001243263.1|NP_938190.1|NP_938193.1|NP_938201.1|NP_938202.1	O43497	CAC1G_HUMAN	BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		11	2850	+	Breast(11;6.7e-17)		826					D6RA64|E7EPR0|O43498|O94770|Q19QY8|Q19QY9|Q19QZ0|Q19QZ1|Q19QZ2|Q19QZ3|Q19QZ4|Q19QZ5|Q19QZ6|Q19QZ7|Q19QZ8|Q19QZ9|Q19R00|Q19R01|Q19R02|Q19R03|Q19R04|Q19R05|Q19R06|Q19R07|Q19R08|Q19R09|Q19R10|Q19R11|Q19R12|Q19R13|Q19R15|Q19R16|Q19R17|Q19R18|Q2TAC4|Q9NYU4|Q9NYU5|Q9NYU6|Q9NYU7|Q9NYU8|Q9NYU9|Q9NYV0|Q9NYV1|Q9UHN9|Q9UHP0|Q9ULU6|Q9UNG7|Q9Y5T2|Q9Y5T3	Frame_Shift_Del	DEL	ENST00000359106.5	37	c.2478delG	CCDS45730.1																																																																																				0.682	CACNA1G-013	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000367895.1	NM_018896		6	9						6	9	---	---	---	---	-	48668820	G	-	48668820	7	5	305	1	0	1	0	1	0	0	0	0	2544	991	35	0	2520	0	CACNA1G	17	48668820	Frame_Shift_Del	DEL	G	TCGA-KK-A59V-01A-11D-A29Q-08	617629	48668820	32526390	903	15420											
TMEM100	55273	broad.mit.edu	37	chr17	53798255	53798255	+	Frame_Shift_Del	DEL	G	G	-																															atgaagacaaccacagcaaaGgggatgatgcagcggtagca																										TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr17:53798255delG	ENST00000575734.1	-	4	985	c.177delC	c.(175-177)cccfs	p.P59fs	TMEM100_ENST00000424486.2_Frame_Shift_Del_p.P59fs|TMEM100_ENST00000570586.1_5'Flank	NM_001099640.1	NP_001093110.1	Q9NV29	TM100_HUMAN	transmembrane protein 100	59					angiogenesis (GO:0001525)|arterial endothelial cell differentiation (GO:0060842)|BMP signaling pathway (GO:0030509)|cellular response to BMP stimulus (GO:0071773)|in utero embryonic development (GO:0001701)|Notch signaling pathway (GO:0007219)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of vasculogenesis (GO:2001214)|protein kinase B signaling (GO:0043491)|vasculogenesis (GO:0001570)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|perikaryon (GO:0043204)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)				cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	11						CCACAGCAAAGGGGATGATGC	0.537																																						ENST00000575734.1																			0				cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	11						c.(175-177)ccfs		transmembrane protein 100							125	119	121					17																	53798255		2203	4300	6503	SO:0001589	frameshift_variant	55273					integral to membrane		g.chr17:53798255delG	AK001832	CCDS11587.1	17q23.1	2005-12-16				ENSG00000166292			25607	protein-coding gene	gene with protein product							Standard	NM_018286		Approved	FLJ10970, FLJ37856	uc002iuj.4	Q9NV29		ENST00000575734.1:c.177delC	17.37:g.53798255delG	ENSP00000465638:p.Pro59fs					TMEM100_ENST00000424486.2_Frame_Shift_Del_p.P59fs	p.P59fs	NM_001099640.1	NP_001093110.1	Q9NV29	TM100_HUMAN			4	985	-			59					D3DTY7|I3L214|Q96FZ0	Frame_Shift_Del	DEL	ENST00000575734.1	37	c.177delC	CCDS11587.1																																																																																				0.537	TMEM100-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439266.2	NM_018286		32	117						32	117	---	---	---	---	-	53798255	G	-	53798255	7	5	305	1	0	1	0	1	0	0	0	0	16012	987	35	0	231	0	TMEM100	17	53798255	Frame_Shift_Del	DEL	G	TCGA-KK-A59V-01A-11D-A29Q-08	5129435	53798255	27396955	904	15421											
ANKFN1	162282	broad.mit.edu	37	chr17	54526456	54526456	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atagactggaaagactatgaCgacagagagcccagacacaa	18	4	10	9	1	0	5	0	1	0	4	0	8	0	6	1	1	1	0	1	1	4	2			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr17:54526456C>T	ENST00000318698.2	+	10	1160	c.1125C>T	c.(1123-1125)gaC>gaT	p.D375D	ANKFN1_ENST00000566473.2_Silent_p.D375D	NM_153228.2	NP_694960.2	Q8N957	ANKF1_HUMAN	ankyrin-repeat and fibronectin type III domain containing 1	375										NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(11)|lung(27)|ovary(1)|prostate(1)|skin(1)	53						AAGACTATGACGACAGAGAGC	0.483																																						ENST00000566473.2																			0				NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(11)|lung(27)|ovary(1)|prostate(1)|skin(1)	53						c.(1123-1125)gaC>gaT		ankyrin-repeat and fibronectin type III domain containing 1							103	103	103					17																	54526456		2203	4300	6503	SO:0001819	synonymous_variant	162282							g.chr17:54526456C>T	AK095654	CCDS32686.1	17q23.2	2014-02-12	2005-11-15		ENSG00000153930	ENSG00000153930		"Ankyrin repeat domain containing", "Fibronectin type III domain containing"	26766	protein-coding gene	gene with protein product							Standard	NM_153228		Approved	FLJ38335	uc002iun.1	Q8N957	OTTHUMG00000155010	ENST00000318698.2:c.1125C>T	17.37:g.54526456C>T						ANKFN1_ENST00000318698.2_Silent_p.D375D	p.D375D			Q8N957	ANKF1_HUMAN			10	1125	+			375						Silent	SNP	ENST00000318698.2	37	c.1125C>T	CCDS32686.1																																																																																				0.483	ANKFN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338043.1	NM_153228		16	52	0	0	0	1	0	16	52					T	54526456	C	T	54526456	2	4	305	1	0	0	0	0	0	0	0	1	625	535	19	1		1	ANKFN1	17	54526456	Silent	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	728201	54526456	26668754	905	15422											
AKAP1	8165	broad.mit.edu	37	chr17	55193500	55193500	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atctgtgccgcccctggtgcGgacggggcctggtggcgagc	3	7	18	13	4	1	0	0	0	1	0	1	2	1	1	4	6	3	0	4	6	0	0	rs377588182		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr17:55193500G>A	ENST00000337714.3	+	7	2543	c.2310G>A	c.(2308-2310)gcG>gcA	p.A770A	AKAP1_ENST00000572557.1_Silent_p.A770A|AKAP1_ENST00000539273.1_Silent_p.A770A|AKAP1_ENST00000571629.1_Silent_p.A770A	NM_003488.3	NP_003479.1	Q92667	AKAP1_HUMAN	A kinase (PRKA) anchor protein 1	770	Tudor. {ECO:0000255|PROSITE- ProRule:PRU00211}.				blood coagulation (GO:0007596)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(2)|liver(1)|lung(7)|ovary(2)|pancreas(1)|skin(1)	14	Breast(9;5.46e-08)					CCCCTGGTGCGGACGGGGCCT	0.632																																						ENST00000337714.3																			0				endometrium(2)|liver(1)|lung(7)|ovary(2)|pancreas(1)|skin(1)	14						c.(2308-2310)gcG>gcA		A kinase (PRKA) anchor protein 1		G	,,	1,4405	2.1+/-5.4	0,1,2202	74	59	64		2310,2310,2310	1.9	0.2	17		64	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous	AKAP1	NM_001242902.1,NM_001242903.1,NM_003488.3	,,	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	,,	770/904,770/904,770/904	55193500	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	8165				blood coagulation	cytosol|integral to membrane|mitochondrial outer membrane	protein binding|RNA binding	g.chr17:55193500G>A	X97335	CCDS11594.1	17q22	2013-01-23			ENSG00000121057	ENSG00000121057		"A-kinase anchor proteins", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "Tudor domain containing"	367	protein-coding gene	gene with protein product	"protein kinase anchoring protein 1", "dual specificity A-kinase-anchoring protein 1", "protein phosphatase 1, regulatory subunit 43", "tudor domain containing 17"	602449		PRKA1		8769136, 7499250	Standard	NM_003488		Approved	AKAP121, AKAP149, SAKAP84, S-AKAP84, AKAP84, D-AKAP1, PPP1R43, TDRD17	uc002iux.3	Q92667	OTTHUMG00000140369	ENST00000337714.3:c.2310G>A	17.37:g.55193500G>A						AKAP1_ENST00000571629.1_Silent_p.A770A|AKAP1_ENST00000539273.1_Silent_p.A770A|AKAP1_ENST00000572557.1_Silent_p.A770A	p.A770A	NM_003488.3	NP_003479.1	Q92667	AKAP1_HUMAN			7	2543	+	Breast(9;5.46e-08)		770			Tudor.		A8K8Q1|D3DTZ0|Q13320|Q9BW14	Silent	SNP	ENST00000337714.3	37	c.2310G>A	CCDS11594.1																																																																																				0.632	AKAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277069.1			21	26	0	0	0	1	0	21	26					A	55193500	G	A	55193500	2	1	305	1	0	0	0	0	0	0	0	1	445	1103	39	2		2	AKAP1	17	55193500	Silent	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	667044	55193500	26001710	906	15423											
BZRAP1	9256	broad.mit.edu	37	chr17	56385933	56385933	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gctccttggctctgcccgtcGcactgcggcctctccgctct	1	11	10	19	4	3	0	0	0	3	0	6	0	4	0	4	2	2	4	4	2	0	1	rs143530655		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr17:56385933G>A	ENST00000343736.4	-	22	4863	c.4700C>T	c.(4699-4701)gCg>gTg	p.A1567V	BZRAP1_ENST00000355701.3_Missense_Mutation_p.A1567V|BZRAP1_ENST00000268893.6_Missense_Mutation_p.A1507V			O95153	RIMB1_HUMAN	benzodiazepine receptor (peripheral) associated protein 1	1567						cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	benzodiazepine receptor binding (GO:0030156)			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TCTGCCCGTCGCACTGCGGCC	0.711																																						ENST00000355701.3																			0				cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	54						c.(4699-4701)gCg>gTg		benzodiazapine receptor (peripheral) associated protein 1		G	VAL/ALA,VAL/ALA	0,4404		0,0,2202	41	44	43		4700,4520	4.2	1	17	dbSNP_134	43	1,8597	1.2+/-3.3	0,1,4298	no	missense,missense	BZRAP1	NM_004758.2,NM_024418.1	64,64	0,1,6500	AA,AG,GG		0.0116,0.0,0.0077	benign,benign	1567/1858,1507/1798	56385933	1,13001	2202	4299	6501	SO:0001583	missense	9256					mitochondrion	benzodiazepine receptor binding	g.chr17:56385933G>A	AB014512	CCDS11605.1, CCDS45742.1	17q22-q23	2014-01-09	2014-01-09						16831	protein-coding gene	gene with protein product		610764				9734811, 9915832	Standard	NM_004758		Approved	PRAX-1, KIAA0612, RIM-BP1, RIMBP1	uc002ivx.5	O95153		ENST00000343736.4:c.4700C>T	17.37:g.56385933G>A	ENSP00000345824:p.Ala1567Val					BZRAP1_ENST00000343736.4_Missense_Mutation_p.A1567V|BZRAP1_ENST00000268893.6_Missense_Mutation_p.A1507V	p.A1567V	NM_001261835.1|NM_004758.3	NP_001248764.1|NP_004749.2	O95153	RIMB1_HUMAN			22	5570	-	Medulloblastoma(34;0.127)|all_neural(34;0.237)		1567					O75111|Q8N5W3	Missense_Mutation	SNP	ENST00000343736.4	37	c.4700C>T	CCDS11605.1	.	.	.	.	.	.	.	.	.	.	G	13.15	2.150141	0.37923	0.0	1.16E-4	ENSG00000005379	ENST00000355701;ENST00000343736;ENST00000268893	T;T;T	0.04360	3.65;3.64;3.65	5.39	4.22	0.49857	.	1.110170	0.06600	N	0.753584	T	0.03520	0.0101	L	0.27053	0.805	0.09310	N	1	P;B;B	0.36768	0.569;0.021;0.021	B;B;B	0.25140	0.058;0.009;0.004	T	0.22208	-1.0223	10	0.17369	T	0.5	.	8.5365	0.33366	0.1551:0.0:0.8449:0.0	.	1567;1507;1567	B7ZVZ7;O95153-2;O95153	.;.;RIMB1_HUMAN	V	1567;1567;1507	ENSP00000347929:A1567V;ENSP00000345824:A1567V;ENSP00000268893:A1507V	ENSP00000268893:A1507V	A	-	2	0	BZRAP1	53740932	0.000000	0.05858	0.996000	0.52242	0.948000	0.59901	-0.201000	0.09464	2.544000	0.85801	0.557000	0.71058	GCG		0.711	BZRAP1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000443980.1	NM_004758		36	49	0	0	0	1	0	36	49					A	56385933	G	A	56385933	3	1	305	1	0	0	0	0	1	0	0	0	1577	1087	38	1	913	1	BZRAP1	17	56385933	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	1192433	56385933	24809277	907	15424											
BZRAP1	9256	broad.mit.edu	37	chr17	56386548	56386548	+	Frame_Shift_Del	DEL	G	G	-																															agcccagccccagcaatgcaGgttcaggcgggccagggtct																										TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr17:56386548delG	ENST00000343736.4	-	22	4248	c.4085delC	c.(4084-4086)cctfs	p.P1362fs	BZRAP1_ENST00000355701.3_Frame_Shift_Del_p.P1362fs|BZRAP1_ENST00000268893.6_Frame_Shift_Del_p.P1302fs			O95153	RIMB1_HUMAN	benzodiazepine receptor (peripheral) associated protein 1	1362						cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	benzodiazepine receptor binding (GO:0030156)			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CAGCAATGCAGGTTCAGGCGG	0.627																																						ENST00000355701.3																			0				cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	54						c.(4084-4086)ctfs		benzodiazapine receptor (peripheral) associated protein 1							73	76	75					17																	56386548		2203	4300	6503	SO:0001589	frameshift_variant	9256					mitochondrion	benzodiazepine receptor binding	g.chr17:56386548delG	AB014512	CCDS11605.1, CCDS45742.1	17q22-q23	2014-01-09	2014-01-09						16831	protein-coding gene	gene with protein product		610764				9734811, 9915832	Standard	NM_004758		Approved	PRAX-1, KIAA0612, RIM-BP1, RIMBP1	uc002ivx.5	O95153		ENST00000343736.4:c.4085delC	17.37:g.56386548delG	ENSP00000345824:p.Pro1362fs					BZRAP1_ENST00000343736.4_Frame_Shift_Del_p.P1362fs|BZRAP1_ENST00000268893.6_Frame_Shift_Del_p.P1302fs	p.P1362fs	NM_001261835.1|NM_004758.3	NP_001248764.1|NP_004749.2	O95153	RIMB1_HUMAN			22	4955	-	Medulloblastoma(34;0.127)|all_neural(34;0.237)		1362					O75111|Q8N5W3	Frame_Shift_Del	DEL	ENST00000343736.4	37	c.4085delC	CCDS11605.1																																																																																				0.627	BZRAP1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000443980.1	NM_004758		32	70						32	70	---	---	---	---	-	56386548	G	-	56386548	7	5	305	1	0	1	0	1	0	0	0	0	1577	1000	35	0	1528	0	BZRAP1	17	56386548	Frame_Shift_Del	DEL	G	TCGA-KK-A59V-01A-11D-A29Q-08	615	56386548	24808662	908	15425											
RNF43	54894	broad.mit.edu	37	chr17	56435161	56435161	+	Frame_Shift_Del	DEL	C	C	-																															caggggtgggctcggagggaCccccccgccttttcctctgt																										TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr17:56435161delC	ENST00000584437.1	-	8	3931	c.1976delG	c.(1975-1977)ggtfs	p.G659fs	RNF43_ENST00000577625.1_Frame_Shift_Del_p.G532fs|RNF43_ENST00000500597.2_Frame_Shift_Del_p.G618fs|BZRAP1-AS1_ENST00000583841.1_RNA|RNF43_ENST00000577716.1_Frame_Shift_Del_p.G659fs|RNF43_ENST00000581868.1_Frame_Shift_Del_p.G532fs|RNF43_ENST00000407977.2_Frame_Shift_Del_p.G659fs|RNF43_ENST00000583753.1_Frame_Shift_Del_p.G618fs			Q68DV7	RNF43_HUMAN	ring finger protein 43	659	Pro-rich.				negative regulation of Wnt signaling pathway (GO:0030178)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|stem cell proliferation (GO:0072089)|Wnt receptor catabolic process (GO:0038018)|Wnt signaling pathway (GO:0016055)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)	frizzled binding (GO:0005109)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.G659fs*41(1)		NS(1)|biliary_tract(5)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(14)|lung(9)|ovary(2)|pancreas(10)|prostate(1)|skin(4)	60	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CTCGGAGGGACCCCCCCGCCT	0.602																																						ENST00000584437.1																			1	Deletion - Frameshift(1)	p.G659fs*41(1)	large_intestine(1)	NS(1)|biliary_tract(5)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(14)|lung(9)|ovary(2)|pancreas(10)|prostate(1)|skin(4)	60						c.(1975-1977)gtfs		ring finger protein 43							64	77	72					17																	56435161		2203	4299	6502	SO:0001589	frameshift_variant	54894					endoplasmic reticulum membrane|integral to membrane|nuclear envelope	ligase activity|protein binding|zinc ion binding	g.chr17:56435161delC		CCDS11607.1	17q23.2	2013-01-09						"RING-type (C3HC4) zinc fingers"	18505	protein-coding gene	gene with protein product		612482					Standard	NM_017763		Approved	FLJ20315, DKFZp781H0392, URCC	uc002iwh.4	Q68DV7		ENST00000584437.1:c.1976delG	17.37:g.56435161delC	ENSP00000463069:p.Gly659fs					BZRAP1-AS1_ENST00000583841.1_RNA|RNF43_ENST00000500597.2_Frame_Shift_Del_p.G618fs|RNF43_ENST00000577625.1_Frame_Shift_Del_p.G532fs|RNF43_ENST00000581868.1_Frame_Shift_Del_p.G532fs|RNF43_ENST00000583753.1_Frame_Shift_Del_p.G618fs|RNF43_ENST00000407977.2_Frame_Shift_Del_p.G659fs|RNF43_ENST00000577716.1_Frame_Shift_Del_p.G659fs	p.G659fs			Q68DV7	RNF43_HUMAN			8	3931	-	Medulloblastoma(34;0.127)|all_neural(34;0.237)		659			Pro-rich.		A8K4R2|B7Z443|B7Z5D5|B7Z5J5|Q65ZA4|Q6AI04|Q9NXD0	Frame_Shift_Del	DEL	ENST00000584437.1	37	c.1976delG	CCDS11607.1																																																																																				0.602	RNF43-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444713.1	NM_017763		65	105						65	105	---	---	---	---	-	56435161	C	-	56435161	7	5	305	1	0	1	0	1	0	0	0	0	13495	507	18	0	383	0	RNF43	17	56435161	Frame_Shift_Del	DEL	C	TCGA-KK-A59V-01A-11D-A29Q-08	48613	56435161	24760049	909	15426											
MTMR4	9110	broad.mit.edu	37	chr17	56572381	56572381	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tctgaagctcacgcacctgtCgacgtagctgctccacctct	7	10	8	16	3	3	1	1	1	2	0	5	2	4	1	3	0	3	5	3	0	2	1			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr17:56572381C>T	ENST00000323456.5	-	16	3246	c.3122G>A	c.(3121-3123)cGa>cAa	p.R1041Q	MTMR4_ENST00000579925.1_Missense_Mutation_p.R984Q	NM_004687.4	NP_004678.3	Q9NYA4	MTMR4_HUMAN	myotubularin related protein 4	1041					negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|protein dephosphorylation (GO:0006470)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|small molecule metabolic process (GO:0044281)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytosol (GO:0005829)|early endosome membrane (GO:0031901)|extracellular space (GO:0005615)	metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)			breast(10)|endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|skin(5)	36	Medulloblastoma(34;0.127)|all_neural(34;0.237)					ACGCACCTGTCGACGTAGCTG	0.527																																						ENST00000323456.5																			0				breast(10)|endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|skin(5)	36						c.(3121-3123)cGa>cAa		myotubularin related protein 4							173	142	152					17																	56572381		2203	4300	6503	SO:0001583	missense	9110					cytoplasm|membrane	metal ion binding|protein tyrosine phosphatase activity	g.chr17:56572381C>T	AB014547	CCDS11608.1	17q22-q23	2011-06-09				ENSG00000108389		"Zinc fingers, FYVE domain containing", "Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"	7452	protein-coding gene	gene with protein product		603559				9736772	Standard	NM_004687		Approved	KIAA0647, ZFYVE11	uc002iwj.2	Q9NYA4		ENST00000323456.5:c.3122G>A	17.37:g.56572381C>T	ENSP00000325285:p.Arg1041Gln					MTMR4_ENST00000579925.1_Missense_Mutation_p.R984Q	p.R1041Q	NM_004687.4	NP_004678.3	Q9NYA4	MTMR4_HUMAN			16	3246	-	Medulloblastoma(34;0.127)|all_neural(34;0.237)		1041					D3DTZ6|Q8IV27|Q9Y4D5	Missense_Mutation	SNP	ENST00000323456.5	37	c.3122G>A	CCDS11608.1	.	.	.	.	.	.	.	.	.	.	C	17.02	3.281259	0.59758	.	.	ENSG00000108389	ENST00000323456	D	0.93247	-3.19	5.58	5.58	0.84498	.	0.060043	0.64402	D	0.000004	D	0.88851	0.6549	L	0.42245	1.32	0.31895	N	0.616653	P	0.37525	0.598	B	0.21151	0.033	D	0.89080	0.3475	10	0.34782	T	0.22	.	18.5538	0.91075	0.0:1.0:0.0:0.0	.	1041	Q9NYA4	MTMR4_HUMAN	Q	1041	ENSP00000325285:R1041Q	ENSP00000325285:R1041Q	R	-	2	0	MTMR4	53927380	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.427000	0.66483	2.627000	0.88993	0.555000	0.69702	CGA		0.527	MTMR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444721.1	NM_004687		19	36	0	0	0	1	0	19	36					T	56572381	C	T	56572381	3	4	305	1	0	0	0	0	1	0	0	0	9946	884	31	2	481	2	MTMR4	17	56572381	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	137220	56572381	24622829	910	15427											
GDPD1	284161	broad.mit.edu	37	chr17	57335125	57335125	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacgtaggtttcagagttggTgaagcggtataatcgagaac	12	10	13	6	3	1	3	1	1	0	2	2	4	1	3	0	3	2	4	0	3	5	5			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr17:57335125T>C	ENST00000284116.4	+	6	637	c.500T>C	c.(499-501)gTg>gCg	p.V167A	Y_RNA_ENST00000384506.1_RNA|GDPD1_ENST00000581276.1_Missense_Mutation_p.V167A|GDPD1_ENST00000581140.1_Missense_Mutation_p.V167A	NM_182569.3	NP_872375.2	Q8N9F7	GDPD1_HUMAN	glycerophosphodiester phosphodiesterase domain containing 1	167	GP-PDE.				glycerol metabolic process (GO:0006071)|lipid metabolic process (GO:0006629)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	glycerophosphodiester phosphodiesterase activity (GO:0008889)|metal ion binding (GO:0046872)			endometrium(1)|kidney(1)|liver(1)|lung(2)|upper_aerodigestive_tract(1)	6	all_neural(34;0.0837)|Medulloblastoma(34;0.0922)					TCAGAGTTGGTGAAGCGGTAT	0.333																																						ENST00000284116.4																			0				endometrium(1)|kidney(1)|liver(1)|lung(2)|upper_aerodigestive_tract(1)	6						c.(499-501)gTg>gCg		glycerophosphodiester phosphodiesterase domain containing 1							89	91	90					17																	57335125		2203	4300	6503	SO:0001583	missense	284161				glycerol metabolic process|lipid metabolic process	cytoplasm|integral to membrane	glycerophosphodiester phosphodiesterase activity|metal ion binding	g.chr17:57335125T>C	AK094770	CCDS11616.1, CCDS58583.1, CCDS58584.1	17q23.2	2011-01-25				ENSG00000153982			20883	protein-coding gene	gene with protein product						14612981	Standard	NM_182569		Approved	FLJ37451, GDE4	uc002ixk.2	Q8N9F7		ENST00000284116.4:c.500T>C	17.37:g.57335125T>C	ENSP00000284116:p.Val167Ala					GDPD1_ENST00000581140.1_Missense_Mutation_p.V167A|GDPD1_ENST00000581276.1_Missense_Mutation_p.V167A	p.V167A	NM_182569.3	NP_872375.2	Q8N9F7	GDPD1_HUMAN			6	637	+	all_neural(34;0.0837)|Medulloblastoma(34;0.0922)		167			GDPD.		A8W735|Q56VR1|Q8N4E3	Missense_Mutation	SNP	ENST00000284116.4	37	c.500T>C	CCDS11616.1	.	.	.	.	.	.	.	.	.	.	T	14.21	2.466093	0.43839	.	.	ENSG00000153982	ENST00000284116	T	0.12879	2.64	5.82	5.82	0.92795	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);	0.051821	0.85682	D	0.000000	T	0.39358	0.1075	M	0.82517	2.595	0.80722	D	1	D;D	0.71674	0.994;0.998	D;P	0.64237	0.923;0.889	T	0.30937	-0.9961	10	0.56958	D	0.05	-29.9391	15.363	0.74496	0.0:0.0:0.0:1.0	.	167;167	Q8N9F7;Q8N9F7-2	GDPD1_HUMAN;.	A	167	ENSP00000284116:V167A	ENSP00000284116:V167A	V	+	2	0	GDPD1	54689907	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	7.313000	0.78978	2.225000	0.72522	0.459000	0.35465	GTG		0.333	GDPD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446024.1	NM_182569		11	52	0	0	0	1	0	11	52					C	57335125	T	C	57335125	3	2	305	1	0	0	0	0	1	0	0	0	6323	1696	59	4	522	4	GDPD1	17	57335125	Missense_Mutation	SNP	T	TCGA-KK-A59V-01A-11D-A29Q-08	762744	57335125	23860085	911	15428											
MRC2	9902	broad.mit.edu	37	chr17	60754670	60754670	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtggcgctggccactggcagCgccatggggctgtgggaggt	4	7	20	10	2	0	0	0	0	0	0	0	1	0	1	2	7	1	3	2	7	0	0			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr17:60754670C>T	ENST00000303375.5	+	12	2277	c.1875C>T	c.(1873-1875)agC>agT	p.S625S		NM_006039.4	NP_006030.2	Q9UBG0	MRC2_HUMAN	mannose receptor, C type 2	625	C-type lectin 3. {ECO:0000255|PROSITE- ProRule:PRU00040}.				collagen catabolic process (GO:0030574)|endocytosis (GO:0006897)|osteoblast differentiation (GO:0001649)	focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)|collagen binding (GO:0005518)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(11)|lung(28)|ovary(2)|prostate(1)|skin(3)	53						CCACTGGCAGCGCCATGGGGC	0.667																																						ENST00000303375.5																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(11)|lung(28)|ovary(2)|prostate(1)|skin(3)	53						c.(1873-1875)agC>agT		mannose receptor, C type 2							10	12	11					17																	60754670		2186	4276	6462	SO:0001819	synonymous_variant	9902				endocytosis	integral to membrane	receptor activity|sugar binding	g.chr17:60754670C>T	AB014609	CCDS11634.1	17q23	2011-08-30				ENSG00000011028		"CD molecules", "C-type lectin domain containing"	16875	protein-coding gene	gene with protein product		612264				9734811, 8702911	Standard	NM_006039		Approved	KIAA0709, ENDO180, CLEC13E, CD280	uc002jad.4	Q9UBG0		ENST00000303375.5:c.1875C>T	17.37:g.60754670C>T							p.S625S	NM_006039.4	NP_006030.2	Q9UBG0	MRC2_HUMAN			12	2277	+			625			C-type lectin 3.		A6H8K4|D3DU08|Q7LGE7|Q9Y5P9	Silent	SNP	ENST00000303375.5	37	c.1875C>T	CCDS11634.1																																																																																				0.667	MRC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445152.1			4	14	0	0	0	1	0	4	14					T	60754670	C	T	60754670	2	4	305	1	0	0	0	0	0	0	0	1	9758	767	27	1		1	MRC2	17	60754670	Silent	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	3419545	60754670	20440540	912	15429											
TANC2	26115	broad.mit.edu	37	chr17	61492927	61492927	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gctgcccagcgctaccagtaCgccctgaagaagttccctag	9	7	10	15	2	0	2	0	1	0	1	1	2	1	2	4	0	4	4	4	0	5	4	rs191181540		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr17:61492927C>T	ENST00000424789.2	+	23	3811	c.3807C>T	c.(3805-3807)taC>taT	p.Y1269Y	RP11-269G24.3_ENST00000583552.1_RNA|AC015923.1_ENST00000431604.1_RNA|TANC2_ENST00000389520.4_Silent_p.Y1279Y	NM_025185.3	NP_079461.2	Q9HCD6	TANC2_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2	1269					in utero embryonic development (GO:0001701)			p.Y1279*(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|upper_aerodigestive_tract(3)	44						GCTACCAGTACGCCCTGAAGA	0.512																																						ENST00000424789.2																			2	Substitution - Nonsense(2)	p.Y1279*(2)	lung(2)	breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|upper_aerodigestive_tract(3)	44						c.(3805-3807)taC>taT		tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2		C		0,3862		0,0,1931	88	86	87		3807	-2.3	1	17		87	1,8293		0,1,4146	no	coding-synonymous	TANC2	NM_025185.3		0,1,6077	TT,TC,CC		0.0121,0.0,0.0082		1269/1991	61492927	1,12155	1931	4147	6078	SO:0001819	synonymous_variant	26115						binding	g.chr17:61492927C>T	AB032974	CCDS45754.1	17q23.3	2013-01-11				ENSG00000170921		"Ankyrin repeat domain containing", "Tetratricopeptide (TTC) repeat domain containing"	30212	protein-coding gene	gene with protein product	"rolling pebbles homolog B (Drosophila)"	615047					Standard	NM_025185		Approved	DKFZP564D166, FLJ10215, FLJ11824, KIAA1148, KIAA1636, rols, ROLSA	uc002jal.4	Q9HCD6		ENST00000424789.2:c.3807C>T	17.37:g.61492927C>T						TANC2_ENST00000389520.4_Silent_p.Y1279Y|RP11-269G24.3_ENST00000583552.1_RNA	p.Y1269Y	NM_025185.3	NP_079461.2	Q9HCD6	TANC2_HUMAN			23	3811	+			1269					Q9HAC3|Q9NW88|Q9NXY9|Q9ULS2	Silent	SNP	ENST00000424789.2	37	c.3807C>T	CCDS45754.1																																																																																				0.512	TANC2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444765.1			11	32	0	0	0	1	0	11	32					T	61492927	C	T	61492927	2	4	305	1	0	0	0	0	0	0	0	1	15542	547	19	1		1	TANC2	17	61492927	Silent	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	738257	61492927	19702283	913	15430											
ACE	1636	broad.mit.edu	37	chr17	61557710	61557710	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcccccaggcttcacagacaCgggggcctactggcgctcct	6	6	12	17	2	1	1	1	0	0	1	2	1	2	1	4	4	1	2	4	4	1	2			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr17:61557710C>T	ENST00000290866.4	+	5	692	c.668C>T	c.(667-669)aCg>aTg	p.T223M	ACE_ENST00000428043.1_Missense_Mutation_p.T223M|ACE_ENST00000538928.1_Missense_Mutation_p.T223M|ACE_ENST00000584529.1_3'UTR	NM_000789.3	NP_000780.1	P12821	ACE_HUMAN	angiotensin I converting enzyme	223	Peptidase M2 1.				angiotensin catabolic process in blood (GO:0002005)|angiotensin maturation (GO:0002003)|arachidonic acid secretion (GO:0050482)|blood vessel remodeling (GO:0001974)|cellular protein metabolic process (GO:0044267)|hematopoietic stem cell differentiation (GO:0060218)|hormone catabolic process (GO:0042447)|kidney development (GO:0001822)|mononuclear cell proliferation (GO:0032943)|peptide catabolic process (GO:0043171)|regulation of blood pressure (GO:0008217)|regulation of renal output by angiotensin (GO:0002019)|regulation of smooth muscle cell migration (GO:0014910)|regulation of systemic arterial blood pressure by renin-angiotensin (GO:0003081)|regulation of vasoconstriction (GO:0019229)|regulation of vasodilation (GO:0042312)	endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|bradykinin receptor binding (GO:0031711)|carboxypeptidase activity (GO:0004180)|chloride ion binding (GO:0031404)|drug binding (GO:0008144)|endopeptidase activity (GO:0004175)|metallopeptidase activity (GO:0008237)|peptidyl-dipeptidase activity (GO:0008241)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(3)|lung(22)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	51					Benazepril(DB00542)|Candoxatril(DB00616)|Captopril(DB01197)|Cilazapril(DB01340)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519)	TTCACAGACACGGGGGCCTAC	0.612																																						ENST00000290866.4																			0				autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(3)|lung(22)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	51						c.(667-669)aCg>aTg		angiotensin I converting enzyme	Benazepril(DB00542)|Captopril(DB01197)|Deserpidine(DB01089)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519)						80	73	76					17																	61557710		2203	4300	6503	SO:0001583	missense	1636				arachidonic acid secretion|hormone catabolic process|kidney development|peptide catabolic process|regulation of smooth muscle cell migration	endosome|external side of plasma membrane|extracellular space|integral to membrane|membrane fraction|plasma membrane	actin binding|bradykinin receptor binding|carboxypeptidase activity|chloride ion binding|drug binding|metallopeptidase activity|peptidyl-dipeptidase activity|zinc ion binding	g.chr17:61557710C>T	J04144	CCDS11637.1, CCDS45755.1, CCDS54155.1	17q23.3	2013-06-12	2013-06-12		ENSG00000159640	ENSG00000159640	3.4.15.1	"CD molecules"	2707	protein-coding gene	gene with protein product	"peptidyl-dipeptidase A"	106180	"angiotensin I converting enzyme (peptidyl-dipeptidase A) 1"	DCP1		2554286, 10319862	Standard	NM_001178057		Approved	ACE1, CD143	uc002jau.2	P12821	OTTHUMG00000154927	ENST00000290866.4:c.668C>T	17.37:g.61557710C>T	ENSP00000290866:p.Thr223Met					ACE_ENST00000428043.1_Missense_Mutation_p.T223M|ACE_ENST00000584529.1_3'UTR|ACE_ENST00000538928.1_Missense_Mutation_p.T223M	p.T223M	NM_000789.3	NP_000780.1	P12821	ACE_HUMAN			5	692	+			223			Peptidase M2 1.		B0LPF0|B4DXI3|E7EU16|P22966|Q53YX9|Q59GY8|Q7M4L4	Missense_Mutation	SNP	ENST00000290866.4	37	c.668C>T	CCDS11637.1	.	.	.	.	.	.	.	.	.	.	C	17.32	3.360846	0.61403	.	.	ENSG00000159640	ENST00000538928;ENST00000290866;ENST00000428043	T;T;T	0.33865	1.39;1.39;1.39	3.96	3.96	0.45880	.	0.055921	0.64402	D	0.000001	T	0.53594	0.1806	L	0.59912	1.85	0.80722	D	1	D;D;P	0.89917	1.0;0.999;0.948	D;P;B	0.67231	0.95;0.882;0.351	T	0.52593	-0.8555	10	0.33940	T	0.23	-12.2896	16.2253	0.82286	0.0:1.0:0.0:0.0	.	223;223;223	F5H1K1;P12821-2;P12821	.;.;ACE_HUMAN	M	223	ENSP00000439591:T223M;ENSP00000290866:T223M;ENSP00000397593:T223M	ENSP00000290866:T223M	T	+	2	0	ACE	58911442	1.000000	0.71417	0.954000	0.39281	0.471000	0.32888	7.608000	0.82898	2.043000	0.60533	0.511000	0.50034	ACG		0.612	ACE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337675.2			19	44	0	0	0	1	0	19	44					T	61557710	C	T	61557710	3	4	305	1	0	0	0	0	1	0	0	0	136	536	19	1	686	1	ACE	17	61557710	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	64783	61557710	19637500	914	15431											
KCNH6	81033	broad.mit.edu	37	chr17	61613357	61613357	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttcagcagcctcaccagcGtgggcttcggcaatgtctcg	6	9	11	15	3	3	0	2	0	1	0	5	0	3	0	3	2	3	3	3	2	1	2	rs376994110		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr17:61613357G>A	ENST00000583023.1	+	6	1440	c.1429G>A	c.(1429-1431)Gtg>Atg	p.V477M	KCNH6_ENST00000314672.5_Missense_Mutation_p.V477M|KCNH6_ENST00000456941.2_Missense_Mutation_p.V424M|KCNH6_ENST00000580652.1_Missense_Mutation_p.V477M|KCNH6_ENST00000581784.1_Missense_Mutation_p.V424M	NM_030779.2	NP_110406.1	Q9H252	KCNH6_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 6	477					potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	signal transducer activity (GO:0004871)|voltage-gated potassium channel activity (GO:0005249)			breast(2)|central_nervous_system(2)|endometrium(9)|kidney(4)|large_intestine(6)|lung(20)|ovary(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	54					Doxazosin(DB00590)|Ibutilide(DB00308)|Miconazole(DB01110)|Prazosin(DB00457)|Terazosin(DB01162)	CCTCACCAGCGTGGGCTTCGG	0.602																																						ENST00000583023.1																			0				breast(2)|central_nervous_system(2)|endometrium(9)|kidney(4)|large_intestine(6)|lung(20)|ovary(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						c.(1429-1431)Gtg>Atg		potassium voltage-gated channel, subfamily H (eag-related), member 6	Ibutilide(DB00308)	G	MET/VAL,MET/VAL	0,4406		0,0,2203	84	64	71		1429,1270	4.4	1	17		71	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	KCNH6	NM_030779.2,NM_173092.1	21,21	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging	477/995,424/906	61613357	1,13005	2203	4300	6503	SO:0001583	missense	81033				regulation of transcription, DNA-dependent|signal transduction			g.chr17:61613357G>A	AF311913	CCDS11638.1, CCDS11639.1, CCDS62290.1	17q23.3	2012-07-05				ENSG00000173826		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	18862	protein-coding gene	gene with protein product		608168				16382104	Standard	NM_030779		Approved	Kv11.2, erg2, HERG2	uc002jay.3	Q9H252		ENST00000583023.1:c.1429G>A	17.37:g.61613357G>A	ENSP00000463533:p.Val477Met					KCNH6_ENST00000580652.1_Missense_Mutation_p.V477M|KCNH6_ENST00000314672.5_Missense_Mutation_p.V477M|KCNH6_ENST00000456941.2_Missense_Mutation_p.V424M|KCNH6_ENST00000581784.1_Missense_Mutation_p.V424M	p.V477M	NM_030779.2	NP_110406.1	Q9H252	KCNH6_HUMAN			6	1440	+			477					Q9BRD7	Missense_Mutation	SNP	ENST00000583023.1	37	c.1429G>A	CCDS11638.1	.	.	.	.	.	.	.	.	.	.	G	12.95	2.092733	0.36952	0.0	1.16E-4	ENSG00000173826	ENST00000314672;ENST00000456941	D;D	0.98249	-4.82;-4.82	4.36	4.36	0.52297	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99130	0.9700	M	0.91196	3.185	0.46260	D	0.998955	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.999;0.996;0.999;0.993;0.994	D	0.99312	1.0904	10	0.87932	D	0	.	17.0722	0.86577	0.0:0.0:1.0:0.0	.	354;477;424;477;477	B4DPJ3;B4DKC0;Q9H252-2;Q9H252;Q9H252-3	.;.;.;KCNH6_HUMAN;.	M	477;424	ENSP00000318212:V477M;ENSP00000396900:V424M	ENSP00000318212:V477M	V	+	1	0	KCNH6	58967089	1.000000	0.71417	1.000000	0.80357	0.641000	0.38312	9.657000	0.98554	2.244000	0.73946	0.313000	0.20887	GTG		0.602	KCNH6-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443853.1	NM_030779		23	50	0	0	0	1	0	23	50					A	61613357	G	A	61613357	3	1	305	1	0	0	0	0	1	0	0	0	8036	1145	40	1	1451	1	KCNH6	17	61613357	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	55647	61613357	19581853	915	15432											
SMARCD2	6603	broad.mit.edu	37	chr17	61911540	61911540	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggctaacctggcggaagtaaCggttgcagttgatgtactcc	9	10	13	9	2	0	1	0	1	0	0	1	2	1	2	2	4	4	6	2	4	4	5	rs147427461		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr17:61911540C>T	ENST00000448276.2	-	8	1335	c.1070G>A	c.(1069-1071)cGt>cAt	p.R357H	SMARCD2_ENST00000323347.10_Missense_Mutation_p.R309H|SMARCD2_ENST00000225742.9_Missense_Mutation_p.R282H	NM_001098426.1	NP_001091896.1	Q92925	SMRD2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 2	357	SWIB.				ATP-dependent chromatin remodeling (GO:0043044)|chromatin remodeling (GO:0006338)|nucleosome disassembly (GO:0006337)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)	transcription coactivator activity (GO:0003713)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(1)	8						GCGGAAGTAACGGTTGCAGTT	0.602											OREG0024642	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000448276.2																			0				central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(1)	8						c.(1069-1071)cGt>cAt		SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 2																																				SO:0001583	missense	6603				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	SWI/SNF complex	protein binding|transcription coactivator activity	g.chr17:61911540C>T	U66618	CCDS45756.1	17q23.3	2014-07-16			ENSG00000108604	ENSG00000108604			11107	protein-coding gene	gene with protein product	"mammalian chromatin remodeling complex BRG1-associated factor 60B", "Swp73-like protein", "chromatin remodeling complex BAF60B subunit", "SWI/SNF complex 60 kDa subunit B"	601736				8804307, 9693044	Standard	NM_001098426		Approved	BAF60B, Rsc6p, CRACD2, PRO2451	uc010deb.1	Q92925	OTTHUMG00000179045	ENST00000448276.2:c.1070G>A	17.37:g.61911540C>T	ENSP00000392617:p.Arg357His		OREG0024642	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1057	SMARCD2_ENST00000225742.9_Missense_Mutation_p.R282H|SMARCD2_ENST00000323347.10_Missense_Mutation_p.R309H	p.R357H	NM_001098426.1	NP_001091896.1	Q92925	SMRD2_HUMAN			8	1335	-			357			SWIB.		A5PLL5|A6NNQ7|B4DV56|B4E1R6|Q7L2I6|Q9UHZ1	Missense_Mutation	SNP	ENST00000448276.2	37	c.1070G>A	CCDS45756.1	.	.	.	.	.	.	.	.	.	.	.	6.279	0.419510	0.11928	.	.	ENSG00000108604	ENST00000448276;ENST00000225742;ENST00000450364;ENST00000323347	T;T	0.43294	0.95;0.96	5.44	4.48	0.54585	SWIB/MDM2 domain (2);	0.000000	0.85682	D	0.000000	T	0.52451	0.1735	L	0.39898	1.24	0.58432	D	0.999997	D;D;D	0.76494	0.994;0.995;0.999	P;D;D	0.69307	0.579;0.919;0.963	T	0.54077	-0.8347	10	0.59425	D	0.04	-11.1647	11.9779	0.53103	0.0:0.917:0.0:0.083	.	309;320;357	Q92925-3;B9EGA3;Q92925	.;.;SMRD2_HUMAN	H	357;299;320;309	ENSP00000392617:R357H;ENSP00000318451:R309H	ENSP00000225742:R299H	R	-	2	0	SMARCD2	59265272	0.931000	0.31567	0.970000	0.41538	0.001000	0.01503	2.006000	0.40874	1.546000	0.49388	-0.136000	0.14681	CGT		0.602	SMARCD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444544.1	NM_001098426		8	13	0	0	0	1	0	8	13					T	61911540	C	T	61911540	3	4	305	1	0	0	0	0	1	0	0	0	14778	536	19	1	549	1	SMARCD2	17	61911540	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	298183	61911540	19283670	916	15433											
PITPNC1	26207	broad.mit.edu	37	chr17	65688788	65688788	+	Frame_Shift_Del	DEL	C	C	-																															gcaatttctatctccagcatCcccctgctgccttcttccgt																								rs376148411		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr17:65688788delC	ENST00000581322.1	+	9	783	c.783delC	c.(781-783)atcfs	p.I261fs	PITPNC1_ENST00000335257.6_Frame_Shift_Del_p.I261fs|PITPNC1_ENST00000580974.1_3'UTR|PITPNC1_ENST00000299954.9_3'UTR			Q9UKF7	PITC1_HUMAN	phosphatidylinositol transfer protein, cytoplasmic 1	261					phospholipid transport (GO:0015914)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	lipid binding (GO:0008289)|phosphatidylinositol transporter activity (GO:0008526)			breast(1)|kidney(2)|large_intestine(3)|liver(2)|lung(4)|prostate(2)|skin(3)	17	all_cancers(12;3.03e-10)		BRCA - Breast invasive adenocarcinoma(8;2.08e-08)|Colorectal(3;0.198)			TCTCCAGCATCCCCCTGCTGC	0.532																																						ENST00000335257.6																			0				breast(1)|kidney(2)|large_intestine(3)|liver(2)|lung(4)|prostate(2)|skin(3)	17						c.(781-783)atfs		phosphatidylinositol transfer protein, cytoplasmic 1							131	139	136					17																	65688788		2004	4154	6158	SO:0001589	frameshift_variant	26207				signal transduction	cytoplasm	lipid binding|phosphatidylinositol transporter activity|protein binding	g.chr17:65688788delC	AF171102	CCDS58587.1, CCDS58588.1	17q24.3	2008-02-05							21045	protein-coding gene	gene with protein product		605134				10531358	Standard	NM_012417		Approved	RDGBB1, RDGBB, RDGB-BETA	uc002jgc.4	Q9UKF7		ENST00000581322.1:c.783delC	17.37:g.65688788delC	ENSP00000464006:p.Ile261fs					PITPNC1_ENST00000299954.9_3'UTR|PITPNC1_ENST00000580974.1_3'UTR|PITPNC1_ENST00000581322.1_Frame_Shift_Del_p.I261fs	p.I261fs			Q9UKF7	PITC1_HUMAN	BRCA - Breast invasive adenocarcinoma(8;2.08e-08)|Colorectal(3;0.198)		9	1130	+	all_cancers(12;3.03e-10)		261					A8K473|J3QR20|Q96I07	Frame_Shift_Del	DEL	ENST00000581322.1	37	c.783delC	CCDS58588.1																																																																																				0.532	PITPNC1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000447194.1	NM_012417		49	136						49	136	---	---	---	---	-	65688788	C	-	65688788	7	5	305	1	0	1	0	1	0	0	0	0	11949	845	30	0	940	0	PITPNC1	17	65688788	Frame_Shift_Del	DEL	C	TCGA-KK-A59V-01A-11D-A29Q-08	3777248	65688788	15506422	917	15434											
KCNJ2	3759	broad.mit.edu	37	chr17	68171232	68171232	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcgtctcttcagaagaagacGgtatgaagttggccaccatg	11	10	11	9	2	2	4	1	1	1	3	4	4	2	4	2	2	0	2	2	2	4	3			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr17:68171232G>A	ENST00000243457.3	+	2	435	c.52G>A	c.(52-54)Ggt>Agt	p.G18S	KCNJ2_ENST00000535240.1_Missense_Mutation_p.G18S	NM_000891.2	NP_000882.1	P63252	KCNJ2_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 2	18					cardiac muscle cell action potential involved in contraction (GO:0086002)|cellular potassium ion homeostasis (GO:0030007)|cellular response to mechanical stimulus (GO:0071260)|magnesium ion transport (GO:0015693)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane repolarization during action potential (GO:0086011)|membrane repolarization during cardiac muscle cell action potential (GO:0086013)|positive regulation of potassium ion transmembrane transport (GO:1901381)|potassium ion import (GO:0010107)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|protein homotetramerization (GO:0051289)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of membrane repolarization (GO:0060306)|regulation of resting membrane potential (GO:0060075)|regulation of skeletal muscle contraction via regulation of action potential (GO:0014861)|relaxation of cardiac muscle (GO:0055119)|relaxation of skeletal muscle (GO:0090076)|synaptic transmission (GO:0007268)	dendritic spine (GO:0043197)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intrinsic component of membrane (GO:0031224)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|voltage-gated potassium channel complex (GO:0008076)	inward rectifier potassium channel activity (GO:0005242)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization (GO:0086008)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(13)|skin(1)|urinary_tract(1)	25	Breast(10;1.64e-08)					AGAAGAAGACGGTATGAAGTT	0.522																																						ENST00000243457.3																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(13)|skin(1)|urinary_tract(1)	25						c.(52-54)Ggt>Agt		potassium inwardly-rectifying channel, subfamily J, member 2							76	72	73					17																	68171232		2203	4300	6503	SO:0001583	missense	3759				synaptic transmission	integral to plasma membrane	inward rectifier potassium channel activity|protein binding	g.chr17:68171232G>A	AF011904	CCDS11688.1	17q24.3	2014-09-17				ENSG00000123700		"Potassium channels", "Voltage-gated ion channels / Potassium channels, Inwardly rectifying"	6263	protein-coding gene	gene with protein product		600681				7696590, 11240146, 16382105	Standard	NM_000891		Approved	Kir2.1, IRK1, LQT7	uc002jir.3	P63252		ENST00000243457.3:c.52G>A	17.37:g.68171232G>A	ENSP00000243457:p.Gly18Ser					KCNJ2_ENST00000535240.1_Missense_Mutation_p.G18S	p.G18S	NM_000891.2	NP_000882.1	P63252	IRK2_HUMAN			2	435	+	Breast(10;1.64e-08)		18					O15110|P48049	Missense_Mutation	SNP	ENST00000243457.3	37	c.52G>A	CCDS11688.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.202210	0.79127	.	.	ENSG00000123700	ENST00000535240;ENST00000243457	T;T	0.71579	-0.58;-0.58	5.79	5.79	0.91817	Potassium channel, inwardly rectifying, Kir, N-terminal (1);	0.104764	0.64402	D	0.000006	T	0.70798	0.3265	L	0.50333	1.59	0.80722	D	1	P	0.48230	0.907	P	0.44561	0.453	T	0.69139	-0.5224	9	.	.	.	.	20.0435	0.97601	0.0:0.0:1.0:0.0	.	18	P63252	IRK2_HUMAN	S	18	ENSP00000441848:G18S;ENSP00000243457:G18S	.	G	+	1	0	KCNJ2	65682827	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.006000	0.88564	2.731000	0.93534	0.650000	0.86243	GGT		0.522	KCNJ2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450889.1	NM_000891		19	51	0	0	0	1	0	19	51					A	68171232	G	A	68171232	3	1	305	1	0	0	0	0	1	0	0	0	8051	1116	39	2	54	2	KCNJ2	17	68171232	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	2482444	68171232	13023978	918	15435											
NAT9	26151	broad.mit.edu	37	chr17	72767902	72767903	+	Frame_Shift_Del	DEL	TT	TT	-																															ccatctctgtaaggcttctcTtccacgtggctggtctgctc																										TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr17:72767902_72767903delTT	ENST00000357814.3	-	7	657_658	c.584_585delAA	c.(583-585)gaafs	p.E196fs	NAT9_ENST00000581136.1_Frame_Shift_Del_p.E191fs|NAT9_ENST00000580632.1_Frame_Shift_Del_p.E196fs|NAT9_ENST00000582524.1_3'UTR|NAT9_ENST00000582870.1_Frame_Shift_Del_p.E200fs|NAT9_ENST00000580301.1_Frame_Shift_Del_p.E195fs|NAT9_ENST00000578822.1_Frame_Shift_Del_p.E201fs|NAT9_ENST00000580216.1_5'Flank|NAT9_ENST00000583757.1_3'UTR	NM_015654.3	NP_056469.2	Q9BTE0	NAT9_HUMAN	N-acetyltransferase 9 (GCN5-related, putative)	196						protein complex (GO:0043234)	N-acetyltransferase activity (GO:0008080)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)	8						AAGGCTTCTCTTCCACGTGGCT	0.574																																						ENST00000357814.3																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)	8						c.(583-585)gfs		N-acetyltransferase 9 (GCN5-related, putative)																																				SO:0001589	frameshift_variant	26151					protein complex	N-acetyltransferase activity	g.chr17:72767902_72767903delTT	AK123115	CCDS11706.1	17q25.2	2011-11-25	2008-09-24		ENSG00000109065	ENSG00000109065			23133	protein-coding gene	gene with protein product			"N-acetyltransferase 9"			14608357	Standard	NM_015654		Approved	DKFZP564C103	uc002jlq.3	Q9BTE0		ENST00000357814.3:c.584_585delAA	17.37:g.72767902_72767903delTT	ENSP00000350467:p.Glu196fs					NAT9_ENST00000581136.1_Frame_Shift_Del_p.E191fs|NAT9_ENST00000580632.1_Frame_Shift_Del_p.E196fs|NAT9_ENST00000580301.1_Frame_Shift_Del_p.E195fs|NAT9_ENST00000582870.1_Frame_Shift_Del_p.E200fs|NAT9_ENST00000582524.1_3'UTR|NAT9_ENST00000578822.1_Frame_Shift_Del_p.E201fs|NAT9_ENST00000583757.1_3'UTR	p.E196fs	NM_015654.3	NP_056469.2	Q9BTE0	NAT9_HUMAN			7	657_658	-			196					B2R7F0|Q9BTD0|Q9Y3T3	Frame_Shift_Del	DEL	ENST00000357814.3	37	c.584_585delAA	CCDS11706.1																																																																																				0.574	NAT9-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000443700.1	NM_015654		19	36						19	36	---	---	---	---	-	72767903	TT	-	72767902	7	5	305	1	0	1	0	1	0	0	0	0	10182	1606	56	0	42	0	NAT9	17	72767902	Frame_Shift_Del	DEL	TT	TCGA-KK-A59V-01A-11D-A29Q-08	4596670	72767902	8427308	919	15436											
KIAA0195	9772	broad.mit.edu	37	chr17	73482398	73482398	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtggggctggtgaatgcctcGgccttgttcctgttactgct	3	14	14	10	1	0	1	0	1	0	0	2	1	1	1	3	4	3	4	3	4	2	3			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr17:73482398G>A	ENST00000314256.7	+	5	694	c.300G>A	c.(298-300)tcG>tcA	p.S100S	KIAA0195_ENST00000579208.1_Intron|KIAA0195_ENST00000375248.5_Silent_p.S110S	NM_014738.4	NP_055553.3	Q12767	K0195_HUMAN	KIAA0195	100						integral component of membrane (GO:0016021)|nucleus (GO:0005634)				breast(2)|endometrium(5)|kidney(2)|large_intestine(7)|lung(17)|ovary(5)|skin(2)|stomach(1)|urinary_tract(1)	42	all_cancers(13;3.15e-09)|all_epithelial(9;5.94e-10)|Breast(9;1.85e-09)|all_lung(278;0.246)		all cancers(21;5.01e-07)|Epithelial(20;5e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			TGAATGCCTCGGCCTTGTTCC	0.657																																						ENST00000314256.7																			0				breast(2)|endometrium(5)|kidney(2)|large_intestine(7)|lung(17)|ovary(5)|skin(2)|stomach(1)|urinary_tract(1)	42						c.(298-300)tcG>tcA		KIAA0195							145	145	145					17																	73482398		2203	4300	6503	SO:0001819	synonymous_variant	9772				ATP biosynthetic process|cation transport	integral to membrane	ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism	g.chr17:73482398G>A		CCDS32732.1	17q25.1	2012-03-01			ENSG00000177728	ENSG00000177728			28983	protein-coding gene	gene with protein product						8724849	Standard	NM_014738		Approved	TMEM94	uc002jnz.4	Q12767		ENST00000314256.7:c.300G>A	17.37:g.73482398G>A						KIAA0195_ENST00000579208.1_Intron|KIAA0195_ENST00000375248.5_Silent_p.S110S	p.S100S	NM_014738.4	NP_055553.3	Q12767	K0195_HUMAN	all cancers(21;5.01e-07)|Epithelial(20;5e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)		5	694	+	all_cancers(13;3.15e-09)|all_epithelial(9;5.94e-10)|Breast(9;1.85e-09)|all_lung(278;0.246)		100					O75536|Q86XF1	Silent	SNP	ENST00000314256.7	37	c.300G>A	CCDS32732.1																																																																																				0.657	KIAA0195-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447303.1	NM_014738		39	152	0	0	0	1	0	39	152					A	73482398	G	A	73482398	2	1	305	1	0	0	0	0	0	0	0	1	8160	1103	39	2		2	KIAA0195	17	73482398	Silent	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	714496	73482398	7712812	920	15437											
CASKIN2	57513	broad.mit.edu	37	chr17	73498257	73498257	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tctcggggcggggggccagcGggcttcgggcgctgtttgat	2	9	20	10	5	1	1	0	1	1	0	3	1	1	1	1	7	1	3	1	7	0	2			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr17:73498257G>A	ENST00000321617.3	-	18	3484	c.2898C>T	c.(2896-2898)ccC>ccT	p.P966P	CASKIN2_ENST00000433559.2_Silent_p.P884P	NM_020753.3	NP_065804.2	Q8WXE0	CSKI2_HUMAN	CASK interacting protein 2	966	Pro-rich.					cytoplasm (GO:0005737)				endometrium(1)|kidney(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	18	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;4.57e-07)|Epithelial(20;2.92e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			GGGGGCCAGCGGGCTTCGGGC	0.672																																						ENST00000321617.3																			0				endometrium(1)|kidney(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	18						c.(2896-2898)ccC>ccT		CASK interacting protein 2							15	22	20					17																	73498257		1774	3579	5353	SO:0001819	synonymous_variant	57513					cytoplasm		g.chr17:73498257G>A	AB032965	CCDS11723.1, CCDS45775.1	17q25.1	2014-09-04			ENSG00000177303	ENSG00000177303		"Sterile alpha motif (SAM) domain containing", "Ankyrin repeat domain containing"	18200	protein-coding gene	gene with protein product		612185				12040031	Standard	NM_020753		Approved	KIAA1139, FLJ21609, ANKS5B	uc002joc.4	Q8WXE0	OTTHUMG00000179683	ENST00000321617.3:c.2898C>T	17.37:g.73498257G>A						CASKIN2_ENST00000433559.2_Silent_p.P884P	p.P966P	NM_020753.3	NP_065804.2	Q8WXE0	CSKI2_HUMAN	all cancers(21;4.57e-07)|Epithelial(20;2.92e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)		18	3484	-	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		966			Pro-rich.		B4DTT3|B7Z9H1|Q7LG69|Q9ULT1	Silent	SNP	ENST00000321617.3	37	c.2898C>T	CCDS11723.1																																																																																				0.672	CASKIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447609.1	NM_020753		21	38	0	0	0	1	0	21	38					A	73498257	G	A	73498257	2	1	305	1	0	0	0	0	0	0	0	1	2667	1103	39	2		2	CASKIN2	17	73498257	Silent	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	15859	73498257	7696953	921	15438											
ITGB4	3691	broad.mit.edu	37	chr17	73750675	73750675	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agagcacctggtgaatggccGgatggactttgccttcccgg	7	9	14	11	2	0	2	0	1	0	1	1	4	1	4	4	5	2	1	4	5	1	2			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr17:73750675G>A	ENST00000200181.3	+	34	4524	c.4337G>A	c.(4336-4338)cGg>cAg	p.R1446Q	ITGB4_ENST00000579662.1_Missense_Mutation_p.R1376Q|GALK1_ENST00000225614.2_Intron|ITGB4_ENST00000339591.3_Missense_Mutation_p.R1376Q|ITGB4_ENST00000449880.2_Missense_Mutation_p.R1376Q|ITGB4_ENST00000450894.3_Missense_Mutation_p.R1376Q	NM_000213.3	NP_000204.3	P16144	ITB4_HUMAN	integrin, beta 4	1446					amelogenesis (GO:0097186)|autophagy (GO:0006914)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell motility (GO:0048870)|cell-matrix adhesion (GO:0007160)|digestive tract development (GO:0048565)|extracellular matrix organization (GO:0030198)|filopodium assembly (GO:0046847)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|mesodermal cell differentiation (GO:0048333)|nail development (GO:0035878)|renal system development (GO:0072001)|response to wounding (GO:0009611)|skin development (GO:0043588)	basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|hemidesmosome (GO:0030056)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	G-protein coupled receptor binding (GO:0001664)|receptor activity (GO:0004872)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1)	43	all_cancers(13;1.5e-07)		all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			GTGAATGGCCGGATGGACTTT	0.677																																						ENST00000200181.3																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1)	43						c.(4336-4338)cGg>cAg		integrin, beta 4							89	74	79					17																	73750675		2203	4300	6503	SO:0001583	missense	3691				cell communication|cell motility|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development|response to wounding	cell leading edge|cell surface|hemidesmosome|integrin complex	protein binding|receptor activity	g.chr17:73750675G>A		CCDS11727.1, CCDS32736.1, CCDS58599.1	17q25.1	2013-09-19			ENSG00000132470	ENSG00000132470		"CD molecules", "Integrins", "Fibronectin type III domain containing"	6158	protein-coding gene	gene with protein product		147557				2070796	Standard	XM_005257309		Approved	CD104	uc002jpg.3	P16144	OTTHUMG00000179814	ENST00000200181.3:c.4337G>A	17.37:g.73750675G>A	ENSP00000200181:p.Arg1446Gln					ITGB4_ENST00000450894.3_Missense_Mutation_p.R1376Q|ITGB4_ENST00000449880.2_Missense_Mutation_p.R1376Q|ITGB4_ENST00000339591.3_Missense_Mutation_p.R1376Q|GALK1_ENST00000225614.2_Intron|ITGB4_ENST00000579662.1_Missense_Mutation_p.R1376Q	p.R1446Q	NM_000213.3	NP_000204.3	P16144	ITB4_HUMAN	all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)		34	4524	+	all_cancers(13;1.5e-07)		1446					A0AVL6|O14690|O14691|O15339|O15340|O15341|Q0VF97|Q9UIQ4	Missense_Mutation	SNP	ENST00000200181.3	37	c.4337G>A	CCDS11727.1	.	.	.	.	.	.	.	.	.	.	G	16.07	3.017484	0.54576	.	.	ENSG00000132470	ENST00000200181;ENST00000339591;ENST00000449880	T;T;T	0.78481	-1.18;-1.17;-1.17	4.73	4.73	0.59995	.	0.070288	0.56097	D	0.000023	T	0.81394	0.4813	L	0.32530	0.975	0.80722	D	1	D;D;D	0.89917	0.994;1.0;0.995	P;D;P	0.64776	0.825;0.929;0.719	T	0.83336	-0.0010	10	0.62326	D	0.03	.	16.0644	0.80861	0.0:0.0:1.0:0.0	.	1376;1376;1446	P16144-3;A0AVL6;P16144	.;.;ITB4_HUMAN	Q	1446;1376;1376	ENSP00000200181:R1446Q;ENSP00000344079:R1376Q;ENSP00000400217:R1376Q	ENSP00000200181:R1446Q	R	+	2	0	ITGB4	71262270	1.000000	0.71417	1.000000	0.80357	0.877000	0.50540	5.610000	0.67668	2.448000	0.82819	0.462000	0.41574	CGG		0.677	ITGB4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000448334.1			4	86	0	0	0	1	0	4	86					A	73750675	G	A	73750675	3	1	305	1	0	0	0	0	1	0	0	0	7897	1116	39	2	4467	2	ITGB4	17	73750675	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	252418	73750675	7444535	922	15439											
GALK1	2584	broad.mit.edu	37	chr17	73759207	73759207	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcctgctgacacacctgggCgcgggcagctattgtgcccg	5	7	15	14	3	0	1	0	1	0	0	0	1	0	1	3	3	3	3	3	3	1	2	rs372078515		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr17:73759207C>T	ENST00000588479.1	-	4	1073	c.499G>A	c.(499-501)Gcc>Acc	p.A167T	GALK1_ENST00000225614.2_Missense_Mutation_p.A167T|GALK1_ENST00000437911.1_Missense_Mutation_p.A197T			P51570	GALK1_HUMAN	galactokinase 1	167					carbohydrate metabolic process (GO:0005975)|galactitol metabolic process (GO:0019402)|galactose catabolic process (GO:0019388)|galactose metabolic process (GO:0006012)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	ATP binding (GO:0005524)|galactokinase activity (GO:0004335)|galactose binding (GO:0005534)			endometrium(2)|large_intestine(1)|lung(1)|prostate(1)	5	all_cancers(13;1.5e-07)		all cancers(21;1.03e-06)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			CACACCTGGGCGCGGGCAGCT	0.612																																						ENST00000588479.1																			0				endometrium(2)|large_intestine(1)|lung(1)|prostate(1)	5						c.(499-501)Gcc>Acc		galactokinase 1							51	50	50					17																	73759207		2203	4300	6503	SO:0001583	missense	2584				galactose catabolic process	cytosol	ATP binding|galactokinase activity|galactose binding	g.chr17:73759207C>T		CCDS11728.1	17q25.1	2013-09-19			ENSG00000108479	ENSG00000108479	2.7.1.6		4118	protein-coding gene	gene with protein product		604313		GALK		7670469	Standard	NM_000154		Approved		uc002jpk.3	P51570	OTTHUMG00000179832	ENST00000588479.1:c.499G>A	17.37:g.73759207C>T	ENSP00000465930:p.Ala167Thr					GALK1_ENST00000437911.1_Missense_Mutation_p.A197T|GALK1_ENST00000225614.2_Missense_Mutation_p.A167T	p.A167T			P51570	GALK1_HUMAN	all cancers(21;1.03e-06)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)		4	1073	-	all_cancers(13;1.5e-07)		167					B2RC07|B4E1G6	Missense_Mutation	SNP	ENST00000588479.1	37	c.499G>A	CCDS11728.1	.	.	.	.	.	.	.	.	.	.	C	32	5.127035	0.94429	.	.	ENSG00000108479	ENST00000225614;ENST00000437911;ENST00000375188	D;D	0.86366	-2.11;-2.11	5.53	5.53	0.82687	Ribosomal protein S5 domain 2-type fold (1);GHMP kinase (1);Ribosomal protein S5 domain 2-type fold, subgroup (1);	0.047110	0.85682	D	0.000000	D	0.93946	0.8062	M	0.89715	3.055	0.80722	D	1	D	0.54207	0.965	P	0.57425	0.82	D	0.94336	0.7566	10	0.56958	D	0.05	-14.0487	19.5272	0.95212	0.0:1.0:0.0:0.0	.	167	P51570	GALK1_HUMAN	T	167;197;270	ENSP00000225614:A167T;ENSP00000406305:A197T	ENSP00000225614:A167T	A	-	1	0	GALK1	71270802	1.000000	0.71417	1.000000	0.80357	0.852000	0.48524	3.409000	0.52657	2.615000	0.88500	0.555000	0.69702	GCC		0.612	GALK1-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448430.1			26	75	0	0	0	1	0	26	75					T	73759207	C	T	73759207	3	4	305	1	0	0	0	0	1	0	0	0	6203	768	27	1	699	1	GALK1	17	73759207	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	8532	73759207	7436003	923	15440											
EVPL	2125	broad.mit.edu	37	chr17	74003402	74003402	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagctcttcactgatcatccCggagaggagggcctgctgga	8	8	13	12	1	3	2	2	1	1	1	4	5	4	4	2	4	2	2	2	4	0	1	rs200693370		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr17:74003402C>T	ENST00000301607.3	-	22	6137	c.5884G>A	c.(5884-5886)Ggg>Agg	p.G1962R	EVPL_ENST00000586740.1_Missense_Mutation_p.G1984R|TEN1-CDK3_ENST00000567351.1_RNA	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN	envoplakin	1962	Globular 2.				epidermis development (GO:0008544)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)	cell junction (GO:0030054)|cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	protein binding, bridging (GO:0030674)|structural molecule activity (GO:0005198)			breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						CTGATCATCCCGGAGAGGAGG	0.627																																						ENST00000301607.3																			0				breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						c.(5884-5886)Ggg>Agg		envoplakin		C	ARG/GLY	0,4406		0,0,2203	62	61	61		5884	4.5	0.2	17		61	1,8599	1.2+/-3.3	0,1,4299	no	missense	EVPL	NM_001988.2	125	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging	1962/2034	74003402	1,13005	2203	4300	6503	SO:0001583	missense	2125				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity	g.chr17:74003402C>T	U53786	CCDS11737.1	17q25	2008-07-18				ENSG00000167880			3503	protein-coding gene	gene with protein product		601590				8938451, 10409435	Standard	NM_001988		Approved	EVPK	uc002jqi.2	Q92817		ENST00000301607.3:c.5884G>A	17.37:g.74003402C>T	ENSP00000301607:p.Gly1962Arg					EVPL_ENST00000586740.1_Missense_Mutation_p.G1984R	p.G1962R	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN			22	6137	-			1962			Globular 2.		A0AUV5	Missense_Mutation	SNP	ENST00000301607.3	37	c.5884G>A	CCDS11737.1	.	.	.	.	.	.	.	.	.	.	C	17.40	3.379850	0.61845	0.0	1.16E-4	ENSG00000167880	ENST00000301607	D	0.85411	-1.98	5.48	4.52	0.55395	.	0.122950	0.56097	D	0.000028	D	0.92156	0.7513	M	0.86028	2.79	0.41948	D	0.990648	D;P	0.89917	1.0;0.798	D;B	0.66084	0.941;0.289	D	0.93369	0.6733	10	0.72032	D	0.01	-30.6283	14.2946	0.66302	0.0:0.9286:0.0:0.0714	.	1984;1962	B7ZLH8;Q92817	.;EVPL_HUMAN	R	1962	ENSP00000301607:G1962R	ENSP00000301607:G1962R	G	-	1	0	EVPL	71514997	0.983000	0.35010	0.199000	0.23439	0.597000	0.36814	3.888000	0.56204	1.311000	0.45024	-0.258000	0.10820	GGG		0.627	EVPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449483.1	NM_001988		7	84	0	0	0	1	0	7	84					T	74003402	C	T	74003402	3	4	305	1	0	0	0	0	1	0	0	0	5292	652	23	2	221	2	EVPL	17	74003402	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	244195	74003402	7191808	924	15441											
USP36	57602	broad.mit.edu	37	chr17	76831511	76831511	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gctcccacctcagagacagtCgctccgtggggaaaagcact	10	6	11	14	2	1	1	1	0	0	1	4	3	3	2	3	2	1	3	3	2	2	0	rs148226667		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr17:76831511C>T	ENST00000542802.3	-	4	769	c.326G>A	c.(325-327)cGa>cAa	p.R109Q	USP36_ENST00000589424.1_Missense_Mutation_p.R109Q|USP36_ENST00000312010.6_Missense_Mutation_p.R109Q|USP36_ENST00000590546.2_Missense_Mutation_p.R109Q			Q9P275	UBP36_HUMAN	ubiquitin specific peptidase 36	109					protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|ubiquitin-specific protease activity (GO:0004843)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	34			BRCA - Breast invasive adenocarcinoma(99;0.000842)|OV - Ovarian serous cystadenocarcinoma(97;0.151)			CAGAGACAGTCGCTCCGTGGG	0.582																																						ENST00000312010.6																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	34						c.(325-327)cGa>cAa		ubiquitin specific peptidase 36		C	GLN/ARG	0,4406		0,0,2203	106	77	87		326	1.2	0.2	17	dbSNP_134	87	1,8599	1.2+/-3.3	0,1,4299	no	missense	USP36	NM_025090.3	43	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	109/1124	76831511	1,13005	2203	4300	6503	SO:0001583	missense	57602				ubiquitin-dependent protein catabolic process	nucleolus	cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr17:76831511C>T	AB040886	CCDS32755.1	17q25.3	2008-02-05	2005-08-08			ENSG00000055483		"Ubiquitin-specific peptidases"	20062	protein-coding gene	gene with protein product		612543	"ubiquitin specific protease 36"			12838346	Standard	NM_025090		Approved	KIAA1453, FLJ12851	uc002jvz.1	Q9P275		ENST00000542802.3:c.326G>A	17.37:g.76831511C>T	ENSP00000441214:p.Arg109Gln					USP36_ENST00000589424.1_Missense_Mutation_p.R109Q|USP36_ENST00000590546.2_Missense_Mutation_p.R109Q|USP36_ENST00000542802.2_Missense_Mutation_p.R109Q	p.R109Q	NM_025090.3	NP_079366.3	Q9P275	UBP36_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.000842)|OV - Ovarian serous cystadenocarcinoma(97;0.151)		4	650	-			109					Q05C98|Q05DD0|Q6IQ38|Q8NDM8|Q9NVC8	Missense_Mutation	SNP	ENST00000542802.3	37	c.326G>A	CCDS32755.1	.	.	.	.	.	.	.	.	.	.	C	11.26	1.585844	0.28268	0.0	1.16E-4	ENSG00000055483	ENST00000312010;ENST00000542802;ENST00000432878	T;T	0.07688	3.17;3.17	5.4	1.22	0.21188	.	0.182969	0.47455	N	0.000222	T	0.08626	0.0214	M	0.65975	2.015	0.80722	D	1	B;B	0.31859	0.343;0.28	B;B	0.20767	0.023;0.031	T	0.13388	-1.0511	10	0.51188	T	0.08	-13.1349	8.5095	0.33208	0.0:0.6214:0.0:0.3786	.	109;109	Q8IXW9;Q9P275-2	.;.	Q	109	ENSP00000310590:R109Q;ENSP00000441214:R109Q	ENSP00000310590:R109Q	R	-	2	0	USP36	74343106	0.045000	0.20229	0.214000	0.23707	0.053000	0.15095	0.438000	0.21559	0.021000	0.15133	0.561000	0.74099	CGA		0.582	USP36-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437472.3	NM_025090		9	30	0	0	0	1	0	9	30					T	76831511	C	T	76831511	3	4	305	1	0	0	0	0	1	0	0	0	17064	884	31	2	3113	2	USP36	17	76831511	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	2828109	76831511	4363699	925	15442											
CBX4	8535	broad.mit.edu	37	chr17	77808481	77808483	+	In_Frame_Del	DEL	CTT	CTT	-																															ctcttgggcggcgcctccacCttcttctcctctgcgcccgc																										TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr17:77808481_77808483delCTT	ENST00000269397.4	-	5	1135_1137	c.958_960delAAG	c.(958-960)aagdel	p.K320del		NM_003655.2	NP_003646.2	O00257	CBX4_HUMAN	chromobox homolog 4	320	Interaction with BMI1.				chromatin modification (GO:0016568)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|protein sumoylation (GO:0016925)|transcription, DNA-templated (GO:0006351)	nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)	chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|ligase activity (GO:0016874)|single-stranded RNA binding (GO:0003727)|SUMO binding (GO:0032183)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			GCGCCTCCACCTTCTTCTCCTCT	0.69											OREG0024799	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000269397.4																			0				breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	18						c.(958-960)del		chromobox homolog 4																																				SO:0001651	inframe_deletion	8535				anti-apoptosis|chromatin modification|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|PcG protein complex	enzyme binding|transcription corepressor activity	g.chr17:77808481_77808483delCTT	AF013956	CCDS32758.1	17q25.3	2010-07-06	2010-06-24		ENSG00000141582	ENSG00000141582			1554	protein-coding gene	gene with protein product	"NS5ATP1-binding protein 16", "Pc class 2 homolog (Drosophila)"	603079	"chromobox homolog 4 (Drosophila Pc class)"			9315667	Standard	NM_003655		Approved	hPC2, PC2, NBP16	uc002jxe.3	O00257	OTTHUMG00000150415	ENST00000269397.4:c.958_960delAAG	17.37:g.77808484_77808486delCTT	ENSP00000269397:p.Lys320del		OREG0024799	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1178		p.K320del	NM_003655.2	NP_003646.2	O00257	CBX4_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)		5	1135_1137	-			320			Interaction with BMI1.		B1PJR7|Q6TPI8|Q96C04	In_Frame_Del	DEL	ENST00000269397.4	37	c.958_960delAAG	CCDS32758.1																																																																																				0.69	CBX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318007.1	NM_003655		8	57						8	57	---	---	---	---	-	77808483	CTT	-	77808481	7	5	305	1	0	1	0	1	0	0	0	0	2720	680	24	0	726	0	CBX4	17	77808481	In_Frame_Del	DEL	CTT	TCGA-KK-A59V-01A-11D-A29Q-08	976970	77808481	3386729	926	15443											
RNF213	57674	broad.mit.edu	37	chr17	78319445	78319445	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	taaattccttagcgacctgcGgcgtggtggtaccaatgctg	8	11	12	10	3	0	0	0	0	0	0	1	1	1	0	3	3	4	2	3	3	5	4	rs367681353		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr17:78319445G>A	ENST00000582970.1	+	29	7453	c.7310G>A	c.(7309-7311)cGg>cAg	p.R2437Q	RNF213_ENST00000336301.6_Missense_Mutation_p.R510Q|RNF213_ENST00000508628.2_Missense_Mutation_p.R2486Q	NM_001256071.1	NP_001243000.1	Q63HN8	RN213_HUMAN	ring finger protein 213	2437					ATP catabolic process (GO:0006200)|protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATPase activity (GO:0016887)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			AGCGACCTGCGGCGTGGTGGT	0.522																																						ENST00000582970.1																			0				NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130						c.(7309-7311)cGg>cAg		ring finger protein 213		G	GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	90	86	88		7457	1.9	0.3	17		88	0,8600		0,0,4300	no	missense	RNF213	NM_020914.4	43	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	2486/5257	78319445	1,13005	2203	4300	6503	SO:0001583	missense	57674							g.chr17:78319445G>A	AK074030	CCDS58606.1	17q25.3	2013-01-09	2007-02-08	2007-02-08		ENSG00000173821		"RING-type (C3HC4) zinc fingers"	14539	protein-coding gene	gene with protein product		613768	"chromosome 17 open reading frame 27", "KIAA1618", "moyamoya disease 2", "Moyamoya disease 2"	C17orf27, KIAA1618, MYMY2		10997877, 21048783, 21799892	Standard	NM_020954		Approved	KIAA1554, NET57	uc021uen.2	Q63HN8		ENST00000582970.1:c.7310G>A	17.37:g.78319445G>A	ENSP00000464087:p.Arg2437Gln					RNF213_ENST00000508628.2_Missense_Mutation_p.R2486Q|RNF213_ENST00000336301.6_Missense_Mutation_p.R510Q	p.R2437Q	NM_001256071.1	NP_001243000.1	Q9HCF4	ALO17_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)		29	7453	+	all_neural(118;0.0538)		0					C9JCP4|D6RI12|F8WKS1|Q658P6|Q69YK7|Q6MZR1|Q8IWF4|Q8IZX1|Q8IZX2|Q8N406|Q8TEU0|Q9H6C9|Q9H6H9|Q9H6P3|Q9H8A9|Q9HCF4|Q9HCL8	Missense_Mutation	SNP	ENST00000582970.1	37	c.7310G>A	CCDS58606.1	.	.	.	.	.	.	.	.	.	.	G	9.150	1.016086	0.19355	2.27E-4	0.0	ENSG00000173821	ENST00000508628;ENST00000411702;ENST00000336301	T	0.41400	1.0	5.12	1.89	0.25635	ATPase, AAA+ type, core (1);	0.517021	0.20045	N	0.100424	T	0.24967	0.0606	N	0.25094	0.71	0.21967	N	0.999449	B	0.19935	0.04	B	0.11329	0.006	T	0.18999	-1.0319	10	0.15499	T	0.54	.	10.4102	0.44289	0.2239:0.0:0.7761:0.0	.	510	Q63HN8	RN213_HUMAN	Q	2437;2486;510	ENSP00000338218:R510Q	ENSP00000338218:R510Q	R	+	2	0	RNF213	75934040	1.000000	0.71417	0.292000	0.24919	0.264000	0.26372	1.708000	0.37899	0.359000	0.24239	0.655000	0.94253	CGG		0.522	RNF213-020	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000443298.1	NM_020914		6	118	0	0	0	1	0	6	118					A	78319445	G	A	78319445	3	1	305	1	0	0	0	0	1	0	0	0	13477	1116	39	2	7739	2	RNF213	17	78319445	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	510964	78319445	2875765	927	15444											
RPTOR	57521	broad.mit.edu	37	chr17	78831654	78831654	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gagctcggcccgagagctgcGgccacttctcgttttcatct	5	11	11	14	4	3	1	1	0	2	1	5	3	3	1	2	2	3	3	2	2	0	3			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr17:78831654G>A	ENST00000306801.3	+	13	1825	c.1463G>A	c.(1462-1464)cGg>cAg	p.R488Q	RPTOR_ENST00000575542.1_3'UTR|RPTOR_ENST00000537330.1_Missense_Mutation_p.R303Q|RPTOR_ENST00000544334.2_Missense_Mutation_p.R488Q	NM_020761.2	NP_065812.1	Q8N122	RPTOR_HUMAN	regulatory associated protein of MTOR, complex 1	488					cell cycle arrest (GO:0007050)|cell growth (GO:0016049)|cellular response to amino acid stimulus (GO:0071230)|cellular response to nutrient levels (GO:0031669)|insulin receptor signaling pathway (GO:0008286)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of TOR signaling (GO:0032008)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|regulation of cell size (GO:0008361)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|TORC1 complex (GO:0031931)	14-3-3 protein binding (GO:0071889)|protein complex binding (GO:0032403)|protein kinase binding (GO:0019901)|RNA polymerase III type 1 promoter DNA binding (GO:0001030)|RNA polymerase III type 2 promoter DNA binding (GO:0001031)|RNA polymerase III type 3 promoter DNA binding (GO:0001032)|TFIIIC-class transcription factor binding (GO:0001156)			breast(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3)	44						CGAGAGCTGCGGCCACTTCTC	0.652																																						ENST00000306801.3																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3)	44						c.(1462-1464)cGg>cAg		regulatory associated protein of MTOR, complex 1							73	66	68					17																	78831654		2203	4300	6503	SO:0001583	missense	57521				cell cycle arrest|cell growth|cellular response to amino acid stimulus|cellular response to nutrient levels|insulin receptor signaling pathway|positive regulation of protein serine/threonine kinase activity|positive regulation of TOR signaling cascade|TOR signaling cascade	cytosol|lysosome|TORC1 complex	protein complex binding	g.chr17:78831654G>A		CCDS11773.1, CCDS54175.1	17q25.3	2013-01-10				ENSG00000141564		"WD repeat domain containing"	30287	protein-coding gene	gene with protein product	"regulatory associated protein of mTOR"	607130				10718198, 12150926	Standard	NM_001163034		Approved	KOG1, Mip1, KIAA1303, raptor	uc002jyt.1	Q8N122		ENST00000306801.3:c.1463G>A	17.37:g.78831654G>A	ENSP00000307272:p.Arg488Gln					RPTOR_ENST00000544334.2_Missense_Mutation_p.R488Q|RPTOR_ENST00000575542.1_3'UTR|RPTOR_ENST00000537330.1_Missense_Mutation_p.R303Q	p.R488Q	NM_020761.2	NP_065812.1	Q8N122	RPTOR_HUMAN			13	1825	+			488					B2RN36|C6KEF2|F5H7J5|Q8N4V9|Q8TB32|Q9P2P3	Missense_Mutation	SNP	ENST00000306801.3	37	c.1463G>A	CCDS11773.1	.	.	.	.	.	.	.	.	.	.	G	28.7	4.938687	0.92526	.	.	ENSG00000141564	ENST00000537330;ENST00000306801;ENST00000544334	T;T;T	0.48522	0.81;0.81;0.81	5.19	5.19	0.71726	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.64402	D	0.000002	T	0.70727	0.3257	M	0.82132	2.575	0.80722	D	1	D;D;D	0.76494	0.997;0.999;0.997	D;P;P	0.69479	0.964;0.891;0.629	T	0.74093	-0.3776	10	0.54805	T	0.06	.	18.7278	0.91720	0.0:0.0:1.0:0.0	.	488;303;488	F5H7J5;F5GXV9;Q8N122	.;.;RPTOR_HUMAN	Q	303;488;488	ENSP00000440947:R303Q;ENSP00000307272:R488Q;ENSP00000442479:R488Q	ENSP00000307272:R488Q	R	+	2	0	RPTOR	76446249	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	9.119000	0.94362	2.425000	0.82216	0.591000	0.81541	CGG		0.652	RPTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438125.1	NM_020761		8	53	0	0	0	1	0	8	53					A	78831654	G	A	78831654	3	1	305	1	0	0	0	0	1	0	0	0	13665	1116	39	2	1513	2	RPTOR	17	78831654	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	512209	78831654	2363556	928	15445											
BAHCC1	57597	broad.mit.edu	37	chr17	79412649	79412649	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctcccgggtgcgcagcgcCgaggaaaagaatggggaggg	9	3	20	9	4	0	1	0	0	0	1	1	4	1	3	2	6	2	2	2	6	3	0	rs569051529		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr17:79412649C>T	ENST00000307745.7	+	14	3105	c.3105C>T	c.(3103-3105)gcC>gcT	p.A1035A																								TGCGCAGCGCCGAGGAAAAGA	0.692																																						ENST00000307745.7																			0											c.(3103-3105)gcC>gcT									12	18	16					17																	79412649		1893	3972	5865	SO:0001819	synonymous_variant	0							g.chr17:79412649C>T																												ENST00000307745.7:c.3105C>T	17.37:g.79412649C>T							p.A1035A							14	3105	+									Silent	SNP	ENST00000307745.7	37	c.3105C>T																																																																																					0.692	RP11-1055B8.7-201	KNOWN	basic|appris_principal	protein_coding	protein_coding				3	5	0	0	0	1	0	3	5					T	79412649	C	T	79412649	2	4	305	1	0	0	0	0	0	0	0	1	1296	639	23	2		2	BAHCC1	17	79412649	Silent	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	580995	79412649	1782561	929	15446											
BAHCC1	57597	broad.mit.edu	37	chr17	79426159	79426159	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aaggaggatagcctgctgtaCgcgggcagcgtcaggaccct	9	6	15	11	3	1	0	1	0	0	0	1	3	1	3	2	4	4	3	2	4	3	2	rs373391006		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr17:79426159C>T	ENST00000307745.7	+	25	5685	c.5685C>T	c.(5683-5685)taC>taT	p.Y1895Y	RP11-1055B8.8_ENST00000572590.1_RNA																							GCCTGCTGTACGCGGGCAGCG	0.687													C|||	1	0.000199681	0	0	5008	,	,		15333	0		0	False		,,,				2504	0.001					ENST00000307745.7																			0											c.(5683-5685)taC>taT				C		3,4143		0,3,2070	17	23	21		5514	-4.7	1	17		21	0,8398		0,0,4199	no	coding-synonymous	BAHCC1	NM_001080519.2		0,3,6269	TT,TC,CC		0.0,0.0724,0.0239		1838/2552	79426159	3,12541	2073	4199	6272	SO:0001819	synonymous_variant	0							g.chr17:79426159C>T																												ENST00000307745.7:c.5685C>T	17.37:g.79426159C>T							p.Y1895Y							25	5685	+									Silent	SNP	ENST00000307745.7	37	c.5685C>T																																																																																					0.687	RP11-1055B8.7-201	KNOWN	basic|appris_principal	protein_coding	protein_coding				8	14	0	0	0	1	0	8	14					T	79426159	C	T	79426159	2	4	305	1	0	0	0	0	0	0	0	1	1296	547	19	1		1	BAHCC1	17	79426159	Silent	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	13510	79426159	1769051	930	15447											
ASPSCR1	79058	broad.mit.edu	37	chr17	79954527	79954527	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gccccctttgttcctttctcGggtgggggacagagactggg	4	11	15	11	1	1	1	0	0	1	1	3	3	2	2	3	4	0	1	3	4	0	3			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr17:79954527G>A	ENST00000306739.4	+	7	835	c.738G>A	c.(736-738)tcG>tcA	p.S246S	ASPSCR1_ENST00000306729.7_Silent_p.S246S|ASPSCR1_ENST00000580534.1_Silent_p.S169S	NM_024083.3	NP_076988.1	Q9BZE9	ASPC1_HUMAN	alveolar soft part sarcoma chromosome region, candidate 1	246					glucose homeostasis (GO:0042593)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|regulation of glucose import (GO:0046324)	cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|extrinsic component of membrane (GO:0019898)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|vesicle membrane (GO:0012506)			ASPSCR1/TFE3(167)	breast(2)|large_intestine(2)	4	all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0191)			TTCCTTTCTCGGGTGGGGGAC	0.662			T	TFE3	alveolar soft part sarcoma																																	ENST00000306729.7				Dom	yes		17	17q25	79058	T	"alveolar soft part sarcoma chromosome region, candidate 1"			M	TFE3		alveolar soft part sarcoma	ASPSCR1/TFE3(167)	0				breast(2)|large_intestine(2)	4						c.(736-738)tcG>tcA		alveolar soft part sarcoma chromosome region, candidate 1							27	34	31					17																	79954527		2203	4298	6501	SO:0001819	synonymous_variant	79058						protein binding	g.chr17:79954527G>A	AF324219	CCDS11796.1, CCDS58611.1	17q25	2011-06-28				ENSG00000169696		"UBX domain containing"	13825	protein-coding gene	gene with protein product	"UBX domain protein 9"	606236				11244503, 10506710	Standard	NM_024083		Approved	ASPS, ASPL, UBXD9, UBXN9	uc002kcy.3	Q9BZE9		ENST00000306739.4:c.738G>A	17.37:g.79954527G>A						ASPSCR1_ENST00000580534.1_Silent_p.S169S|ASPSCR1_ENST00000306739.4_Silent_p.S246S	p.S246S	NM_001251888.1	NP_001238817.1	Q9BZE9	ASPC1_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0191)		7	835	+	all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.246)		246					A8K3K9|Q7Z6N7|Q8WV59|Q96LS5|Q96M40	Silent	SNP	ENST00000306739.4	37	c.738G>A	CCDS11796.1																																																																																				0.662	ASPSCR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441972.1	NM_024083		16	40	0	0	0	1	0	16	40					A	79954527	G	A	79954527	2	1	305	1	0	0	0	0	0	0	0	1	1059	1103	39	2		2	ASPSCR1	17	79954527	Silent	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	528368	79954527	1240683	931	15448											
CD7	924	broad.mit.edu	37	chr17	80274164	80274164	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggagggcagaggctgctggCgggtcagggagggcagaggc	7	3	24	7	1	1	2	1	0	0	2	1	4	1	4	0	8	1	4	0	8	0	0			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr17:80274164C>T	ENST00000312648.3	-	3	625	c.519G>A	c.(517-519)ccG>ccA	p.P173P	CD7_ENST00000584284.1_Silent_p.P173P|CD7_ENST00000578509.1_Silent_p.P73P|CD7_ENST00000583376.1_Silent_p.P73P	NM_006137.6	NP_006128.1	P09564	CD7_HUMAN	CD7 molecule	173	4 X 9 AA tandem repeats, potential spacer function.				homeostasis of number of cells within a tissue (GO:0048873)|immune response (GO:0006955)|T cell activation (GO:0042110)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			endometrium(1)|large_intestine(1)|lung(3)|skin(2)|upper_aerodigestive_tract(1)	8	Breast(20;0.000675)|all_neural(118;0.0804)|Lung NSC(278;0.128)|all_lung(278;0.145)|Ovarian(332;0.249)		OV - Ovarian serous cystadenocarcinoma(97;0.00463)|BRCA - Breast invasive adenocarcinoma(99;0.0667)			AGGCTGCTGGCGGGTCAGGGA	0.716																																					Pancreas(45;804 1068 19702 28207 28798)	ENST00000584284.1																			0				endometrium(1)|large_intestine(1)|lung(3)|skin(2)|upper_aerodigestive_tract(1)	8						c.(517-519)ccG>ccA		CD7 molecule							11	14	13					17																	80274164		2165	4243	6408	SO:0001819	synonymous_variant	924				immune response|T cell activation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to membrane|membrane fraction|plasma membrane	receptor activity	g.chr17:80274164C>T	X06180	CCDS11807.1	17q25.2-q25.3	2013-01-11	2006-03-28			ENSG00000173762		"CD molecules", "Immunoglobulin superfamily / V-set domain containing"	1695	protein-coding gene	gene with protein product	"p41 protein", "T-cell antigen CD7", "T-cell leukemia antigen"	186820	"CD7 antigen (p41)"			1695199, 3501369	Standard	NM_006137		Approved	GP40, LEU-9, TP41, Tp40	uc002kel.1	P09564		ENST00000312648.3:c.519G>A	17.37:g.80274164C>T						CD7_ENST00000583376.1_Silent_p.P73P|CD7_ENST00000578509.1_Silent_p.P73P|CD7_ENST00000312648.3_Silent_p.P173P	p.P173P			P09564	CD7_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.00463)|BRCA - Breast invasive adenocarcinoma(99;0.0667)		3	600	-	Breast(20;0.000675)|all_neural(118;0.0804)|Lung NSC(278;0.128)|all_lung(278;0.145)|Ovarian(332;0.249)		173			4 X 9 AA tandem repeats, potential spacer function.			Silent	SNP	ENST00000312648.3	37	c.519G>A	CCDS11807.1																																																																																				0.716	CD7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000442826.1	NM_006137		3	9	0	0	0	1	0	3	9					T	80274164	C	T	80274164	2	4	305	1	0	0	0	0	0	0	0	1	3032	755	27	1		1	CD7	17	80274164	Silent	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	319637	80274164	921046	932	15449											
SECTM1	6398	broad.mit.edu	37	chr17	80285100	80285101	+	Frame_Shift_Ins	INS	-	-	G																															aacgtggccagggaatgccaINSgggggcaggtctgcatggct																										TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr17:80285100_80285101insG	ENST00000269389.3	-	2	366_367	c.16_17insC	c.(16-18)ctgfs	p.L6fs	SECTM1_ENST00000580437.1_Frame_Shift_Ins_p.L6fs	NM_003004.2	NP_002995.1	Q8WVN6	SCTM1_HUMAN	secreted and transmembrane 1	6					immune response (GO:0006955)|mesoderm development (GO:0007498)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cytokine activity (GO:0005125)|signal transducer activity (GO:0004871)			endometrium(1)|large_intestine(2)|lung(1)	4	Breast(20;0.000675)|all_neural(118;0.0804)|Lung NSC(278;0.128)|all_lung(278;0.145)|Ovarian(332;0.249)		OV - Ovarian serous cystadenocarcinoma(97;0.00928)|BRCA - Breast invasive adenocarcinoma(99;0.0833)			AGGGAATGCCAGGGGGCAGGTC	0.624																																						ENST00000269389.3																			0				endometrium(1)|large_intestine(2)|lung(1)	4						c.(16-18)ggcfs		secreted and transmembrane 1																																				SO:0001589	frameshift_variant	6398				immune response|mesoderm development|positive regulation of I-kappaB kinase/NF-kappaB cascade	extracellular space|Golgi apparatus|integral to membrane|plasma membrane	cytokine activity|signal transducer activity	g.chr17:80285100_80285101insG	U77643	CCDS11808.1	17q25	2008-07-18				ENSG00000141574			10707	protein-coding gene	gene with protein product	"K12 protein", "type 1a transmembrane protein"	602602				9480746	Standard	NM_003004		Approved	K12	uc002keo.3	Q8WVN6		ENST00000269389.3:c.17dupC	17.37:g.80285105_80285105dupG	ENSP00000269389:p.Leu6fs					SECTM1_ENST00000580437.1_Frame_Shift_Ins_p.G6fs	p.G6fs	NM_003004.2	NP_002995.1	Q8WVN6	SCTM1_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.00928)|BRCA - Breast invasive adenocarcinoma(99;0.0833)		2	366_367	-	Breast(20;0.000675)|all_neural(118;0.0804)|Lung NSC(278;0.128)|all_lung(278;0.145)|Ovarian(332;0.249)		6					B2R7H0|O00466	Frame_Shift_Ins	INS	ENST00000269389.3	37	c.16_17insC	CCDS11808.1																																																																																				0.624	SECTM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442856.1	NM_003004		7	14						7	14	---	---	---	---	G	80285101	-	G	80285100	7	5	305	1	0	1	1	0	0	0	0	0	14008	188	7	0	745	0	SECTM1	17	80285100	Frame_Shift_Ins	INS	-	TCGA-KK-A59V-01A-11D-A29Q-08	10936	80285100	910110	933	15450											
NDC80	10403	broad.mit.edu	37	chr18	2573008	2573008	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aagcgcagttcagtttccagCggtggtgctggccgcctctc	5	10	13	13	3	2	0	1	0	1	0	4	0	3	0	3	3	3	4	3	3	1	2	rs374603804		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr18:2573008C>T	ENST00000261597.4	+	2	206	c.24C>T	c.(22-24)agC>agT	p.S8S	METTL4_ENST00000319888.6_5'Flank|METTL4_ENST00000574538.1_5'Flank	NM_006101.2	NP_006092.1	O14777	NDC80_HUMAN	NDC80 kinetochore complex component	8	Interaction with the N-terminus of CDCA1.|Nuclear localization.				attachment of spindle microtubules to kinetochore (GO:0008608)|chromosome segregation (GO:0007059)|establishment of mitotic spindle orientation (GO:0000132)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic sister chromatid segregation (GO:0000070)|mitotic spindle organization (GO:0007052)	chromosome, centromeric region (GO:0000775)|condensed chromosome kinetochore (GO:0000777)|condensed nuclear chromosome outer kinetochore (GO:0000942)|cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)|Ndc80 complex (GO:0031262)|nucleus (GO:0005634)				NS(1)|biliary_tract(2)|breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(2)|urinary_tract(2)	22						CAGTTTCCAGCGGTGGTGCTG	0.428																																						ENST00000261597.4																			0				NS(1)|biliary_tract(2)|breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(2)|urinary_tract(2)	22						c.(22-24)agC>agT		NDC80 kinetochore complex component		C		0,4406		0,0,2203	97	88	91		24	-1.3	0.8	18		91	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	NDC80	NM_006101.2		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		8/643	2573008	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	10403				attachment of spindle microtubules to kinetochore|cell division|establishment of mitotic spindle orientation|mitotic prometaphase|mitotic sister chromatid segregation|mitotic spindle organization|phosphatidylinositol-mediated signaling	condensed nuclear chromosome outer kinetochore|cytosol|Ndc80 complex	protein binding	g.chr18:2573008C>T	AF017790	CCDS11827.1	18p11.31	2013-01-17	2013-01-17	2007-03-02	ENSG00000080986	ENSG00000080986			16909	protein-coding gene	gene with protein product		607272	"highly expressed in cancer, rich in leucine heptad repeats (yeast)", "kinetochore associated 2", "NDC80 kinetochore complex component homolog (S. cerevisiae)"	KNTC2		9315664, 12351790	Standard	NM_006101		Approved	HEC, HEC1, hsNDC80, TID3	uc002kli.3	O14777	OTTHUMG00000131483	ENST00000261597.4:c.24C>T	18.37:g.2573008C>T							p.S8S	NM_006101.2	NP_006092.1	O14777	NDC80_HUMAN			2	206	+			8			Interaction with the N-terminus of CDCA1.|Nuclear localization.		Q6PJX2	Silent	SNP	ENST00000261597.4	37	c.24C>T	CCDS11827.1																																																																																				0.428	NDC80-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254327.1	NM_006101		4	48	0	0	0	1	0	4	48					T	2573008	C	T	2573008	2	4	305	1	0	0	0	0	0	0	0	1	10242	767	27	1		1	NDC80	18	2573008	Silent	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08		2573008	75504240	934	15451											
EMILIN2	84034	broad.mit.edu	37	chr18	2891121	2891121	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agagaggagctcatggagggCatggacagaaagctggctga	13	5	17	6	0	1	3	1	1	0	2	1	7	1	6	0	5	2	4	0	5	1	0	rs560726648		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr18:2891121C>T	ENST00000254528.3	+	4	1155	c.996C>T	c.(994-996)ggC>ggT	p.G332G		NM_032048.2	NP_114437.2	Q9BXX0	EMIL2_HUMAN	elastin microfibril interfacer 2	332					cell adhesion (GO:0007155)	collagen trimer (GO:0005581)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix constituent conferring elasticity (GO:0030023)			breast(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(4)	48				READ - Rectum adenocarcinoma(2;0.1)		TCATGGAGGGCATGGACAGAA	0.547													C|||	1	0.000199681	8e-04	0	5008	,	,		19544	0		0	False		,,,				2504	0					ENST00000254528.3																			0				breast(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(4)	48						c.(994-996)ggC>ggT		elastin microfibril interfacer 2							112	116	114					18																	2891121		2203	4300	6503	SO:0001819	synonymous_variant	84034				cell adhesion	collagen	extracellular matrix constituent conferring elasticity|protein binding	g.chr18:2891121C>T	AF270513	CCDS11828.1	18p11.3	2008-02-05			ENSG00000132205	ENSG00000132205		"EMI domain containing"	19881	protein-coding gene	gene with protein product		608928					Standard	NM_032048		Approved	FLJ33200, FOAP-10	uc002kln.3	Q9BXX0	OTTHUMG00000128525	ENST00000254528.3:c.996C>T	18.37:g.2891121C>T							p.G332G	NM_032048.2	NP_114437.2	Q9BXX0	EMIL2_HUMAN		READ - Rectum adenocarcinoma(2;0.1)	4	1155	+			332					B2RMY3|Q8NBH3|Q96JQ4	Silent	SNP	ENST00000254528.3	37	c.996C>T	CCDS11828.1																																																																																				0.547	EMILIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250337.2	NM_032048		28	103	0	0	0	1	0	28	103					T	2891121	C	T	2891121	2	4	305	1	0	0	0	0	0	0	0	1	5094	697	25	3		3	EMILIN2	18	2891121	Silent	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	318113	2891121	75186127	935	15452											
MYOM1	8736	broad.mit.edu	37	chr18	3215169	3215169	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgctgcgcacgtccttgttgCggtagctgagatcatagtgc	6	12	13	10	3	1	1	1	1	0	1	2	2	2	1	1	1	5	5	1	1	2	4			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr18:3215169C>T	ENST00000356443.4	-	2	386	c.53G>A	c.(52-54)cGc>cAc	p.R18H	MYOM1_ENST00000400569.3_Missense_Mutation_p.R18H|RP13-270P17.2_ENST00000580139.1_RNA|MYOM1_ENST00000261606.7_Missense_Mutation_p.R18H	NM_003803.3|NM_019856.1	NP_003794.3|NP_062830.1	P52179	MYOM1_HUMAN	myomesin 1	18					muscle contraction (GO:0006936)	M band (GO:0031430)|striated muscle myosin thick filament (GO:0005863)	identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|structural constituent of muscle (GO:0008307)			NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						GTCCTTGTTGCGGTAGCTGAG	0.577																																						ENST00000356443.4																			0				NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						c.(52-54)cGc>cAc		myomesin 1							48	53	52					18																	3215169		2105	4244	6349	SO:0001583	missense	8736					striated muscle myosin thick filament	structural constituent of muscle	g.chr18:3215169C>T	AF185573	CCDS45823.1, CCDS45824.1	18p11.31	2014-09-17	2012-10-17		ENSG00000101605	ENSG00000101605		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	7613	protein-coding gene	gene with protein product	"skelemin"	603508	"myomesin 1 (skelemin) (185kD)", "myomesin 1 (skelemin) 185kDa", "myomesin 1, 185kDa"			9806852	Standard	NM_019856		Approved		uc002klp.3	P52179	OTTHUMG00000178209	ENST00000356443.4:c.53G>A	18.37:g.3215169C>T	ENSP00000348821:p.Arg18His					RP13-270P17.2_ENST00000580139.1_RNA|MYOM1_ENST00000261606.7_Missense_Mutation_p.R18H|MYOM1_ENST00000400569.3_Missense_Mutation_p.R18H	p.R18H	NM_003803.3|NM_019856.1	NP_003794.3|NP_062830.1	P52179	MYOM1_HUMAN			2	386	-			18					Q14BD6|Q6H969|Q6ZUU0	Missense_Mutation	SNP	ENST00000356443.4	37	c.53G>A	CCDS45824.1	.	.	.	.	.	.	.	.	.	.	C	23.1	4.370394	0.82573	.	.	ENSG00000101605	ENST00000356443;ENST00000400569;ENST00000261606	T;T;T	0.67698	-0.15;-0.15;-0.28	5.41	3.55	0.40652	.	0.199109	0.44483	D	0.000452	T	0.70988	0.3287	L	0.32530	0.975	0.37644	D	0.922151	D;D	0.89917	1.0;0.998	D;P	0.74674	0.984;0.791	T	0.74583	-0.3617	10	0.87932	D	0	.	10.8119	0.46551	0.0:0.8348:0.0:0.1652	.	18;18	P52179-2;P52179	.;MYOM1_HUMAN	H	18	ENSP00000348821:R18H;ENSP00000383413:R18H;ENSP00000261606:R18H	ENSP00000261606:R18H	R	-	2	0	MYOM1	3205169	0.957000	0.32711	0.632000	0.29296	0.945000	0.59286	1.599000	0.36751	0.588000	0.29660	0.655000	0.94253	CGC		0.577	MYOM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000441037.2	NM_003803		3	27	0	0	0	1	0	3	27					T	3215169	C	T	3215169	3	4	305	1	0	0	0	0	1	0	0	0	10091	768	27	1	5152	1	MYOM1	18	3215169	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	324048	3215169	74862079	936	15453											
DLGAP1	9229	broad.mit.edu	37	chr18	3879897	3879897	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgggtcgctgaaggggcccaCgcactcagcctggaaggagt	8	5	16	12	3	1	1	1	1	0	0	2	3	1	3	2	5	1	2	2	5	2	0			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr18:3879897C>T	ENST00000315677.3	-	4	767	c.172G>A	c.(172-174)Gtg>Atg	p.V58M	DLGAP1_ENST00000584874.1_Missense_Mutation_p.V58M|DLGAP1-AS3_ENST00000577649.1_RNA|DLGAP1_ENST00000581527.1_Missense_Mutation_p.V58M|DLGAP1_ENST00000515196.2_Missense_Mutation_p.V58M	NM_004746.3	NP_004737.2	O14490	DLGP1_HUMAN	discs, large (Drosophila) homolog-associated protein 1	58					synaptic transmission (GO:0007268)	cell junction (GO:0030054)|neuronal postsynaptic density (GO:0097481)|postsynaptic membrane (GO:0045211)		p.V58M(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	56		Colorectal(8;0.0257)				AAGGGGCCCACGCACTCAGCC	0.672																																						ENST00000315677.3																			1	Substitution - Missense(1)	p.V58M(1)	ovary(1)	breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	56						c.(172-174)Gtg>Atg		discs, large (Drosophila) homolog-associated protein 1							52	53	53					18																	3879897		2203	4300	6503	SO:0001583	missense	9229				synaptic transmission	cell junction|postsynaptic density|postsynaptic membrane		g.chr18:3879897C>T	AB000277	CCDS11836.1, CCDS42406.1, CCDS56049.1, CCDS56050.1, CCDS56051.1, CCDS56052.1, CCDS56053.1, CCDS74191.1	18p11.3	2008-07-28	2001-11-28		ENSG00000170579	ENSG00000170579			2905	protein-coding gene	gene with protein product		605445	"discs, large (Drosophila) homolog-associated protein 1"			9024696, 9286858	Standard	NM_004746		Approved	GKAP, SAPAP1, DAP-1	uc002kmf.3	O14490	OTTHUMG00000131537	ENST00000315677.3:c.172G>A	18.37:g.3879897C>T	ENSP00000316377:p.Val58Met					DLGAP1_ENST00000515196.2_Missense_Mutation_p.V58M|DLGAP1_ENST00000581527.1_Missense_Mutation_p.V58M|DLGAP1_ENST00000584874.1_Missense_Mutation_p.V58M|DLGAP1-AS3_ENST00000577649.1_RNA	p.V58M	NM_004746.3	NP_004737.2	O14490	DLGP1_HUMAN			4	767	-		Colorectal(8;0.0257)	58					A8MWN8|B2RMU8|B7WPA1|B7Z2H2|B7Z2I2|B7Z9Y4|O14489|P78335	Missense_Mutation	SNP	ENST00000315677.3	37	c.172G>A	CCDS11836.1	.	.	.	.	.	.	.	.	.	.	C	9.017	0.983953	0.18889	.	.	ENSG00000170579	ENST00000315677;ENST00000515196	T;T	0.11063	2.81;2.81	5.8	5.8	0.92144	.	0.354251	0.26995	N	0.021452	T	0.04770	0.0129	N	0.04959	-0.14	0.29526	N	0.853106	B;B;B	0.12013	0.001;0.004;0.005	B;B;B	0.12156	0.002;0.006;0.007	T	0.34551	-0.9824	10	0.14656	T	0.56	-9.3751	7.6051	0.28097	0.0:0.8067:0.0:0.1933	.	58;58;58	B7Z9Y4;Q6IS01;O14490	.;.;DLGP1_HUMAN	M	58	ENSP00000316377:V58M;ENSP00000445973:V58M	ENSP00000316377:V58M	V	-	1	0	DLGAP1	3869897	1.000000	0.71417	0.993000	0.49108	0.941000	0.58515	1.823000	0.39062	2.744000	0.94065	0.655000	0.94253	GTG		0.672	DLGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254394.4			7	152	0	0	0	1	0	7	152					T	3879897	C	T	3879897	3	4	305	1	0	0	0	0	1	0	0	0	4559	536	19	1	2856	1	DLGAP1	18	3879897	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	664728	3879897	74197351	937	15454											
ROCK1	6093	broad.mit.edu	37	chr18	18546946	18546946	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgtagaatccgagaggtccAaaagtttagcacgcaattgc	13	10	10	8	2	0	2	0	0	0	2	2	3	2	2	2	1	2	4	2	1	6	5			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr18:18546946A>G	ENST00000399799.2	-	27	4224	c.3284T>C	c.(3283-3285)tTg>tCg	p.L1095S		NM_005406.2	NP_005397.1	Q13464	ROCK1_HUMAN	Rho-associated, coiled-coil containing protein kinase 1	1095					actin cytoskeleton organization (GO:0030036)|apical constriction (GO:0003383)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|bleb assembly (GO:0032060)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte tethering or rolling (GO:0050901)|membrane to membrane docking (GO:0022614)|myoblast migration (GO:0051451)|negative regulation of angiogenesis (GO:0016525)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of focal adhesion assembly (GO:0051894)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell adhesion (GO:0030155)|regulation of cell motility (GO:2000145)|regulation of establishment of cell polarity (GO:2000114)|regulation of focal adhesion assembly (GO:0051893)|regulation of keratinocyte differentiation (GO:0045616)|regulation of stress fiber assembly (GO:0051492)|Rho protein signal transduction (GO:0007266)|signal transduction (GO:0007165)|smooth muscle contraction (GO:0006939)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(4)|central_nervous_system(1)|large_intestine(8)|lung(2)	16	Melanoma(1;0.165)					CGAGAGGTCCAAAAGTTTAGC	0.398																																						ENST00000399799.1																			0				NS(1)|breast(4)|central_nervous_system(1)|large_intestine(8)|lung(2)	16						c.(3283-3285)tTg>tCg		Rho-associated, coiled-coil containing protein kinase 1							159	143	148					18																	18546946		2203	4300	6503	SO:0001583	missense	6093				actin cytoskeleton organization|axon guidance|cellular component disassembly involved in apoptosis|cytokinesis|leukocyte tethering or rolling|membrane to membrane docking|Rho protein signal transduction	centriole|cytosol|Golgi membrane	ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity	g.chr18:18546946A>G		CCDS11870.2	18q11.2	2013-01-10			ENSG00000067900	ENSG00000067900	2.7.11.1	"Pleckstrin homology (PH) domain containing"	10251	protein-coding gene	gene with protein product		601702				8617235	Standard	NM_005406		Approved	p160ROCK	uc002kte.3	Q13464	OTTHUMG00000131723	ENST00000399799.2:c.3284T>C	18.37:g.18546946A>G	ENSP00000382697:p.Leu1095Ser						p.L1095S	NM_005406.2	NP_005397.1	Q13464	ROCK1_HUMAN			27	4224	-	Melanoma(1;0.165)		1095					B0YJ91|Q2KHM4|Q59GZ4	Missense_Mutation	SNP	ENST00000399799.2	37	c.3284T>C	CCDS11870.2	.	.	.	.	.	.	.	.	.	.	A	7.741	0.701231	0.15172	.	.	ENSG00000067900	ENST00000399799	T	0.12984	2.63	5.62	1.83	0.25207	.	0.405681	0.25704	N	0.028843	T	0.04318	0.0119	N	0.04508	-0.205	0.28328	N	0.921902	B	0.09022	0.002	B	0.08055	0.003	T	0.40289	-0.9571	10	0.09590	T	0.72	.	4.4881	0.11799	0.6539:0.0:0.2121:0.1339	.	1095	Q13464	ROCK1_HUMAN	S	1095	ENSP00000382697:L1095S	ENSP00000382697:L1095S	L	-	2	0	ROCK1	16800944	1.000000	0.71417	0.970000	0.41538	0.990000	0.78478	3.044000	0.49830	0.369000	0.24510	0.482000	0.46254	TTG		0.398	ROCK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254641.2	NM_005406		9	109	0	0	0	1	0	9	109					G	18546946	A	G	18546946	3	3	305	1	0	0	0	0	1	0	0	0	13517	131	5	4	808	4	ROCK1	18	18546946	Missense_Mutation	SNP	A	TCGA-KK-A59V-01A-11D-A29Q-08	14667049	18546946	59530302	938	15455											
DSC2	1824	broad.mit.edu	37	chr18	28654830	28654830	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatgggctgttatcattcacGtcttgaagtataatgcccag	11	13	9	8	1	3	1	2	1	1	0	3	1	3	1	1	1	1	3	1	1	5	5	rs201517977		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr18:28654830G>A	ENST00000280904.6	-	12	2150	c.1707C>T	c.(1705-1707)gaC>gaT	p.D569D	snoU13_ENST00000459603.1_RNA|DSC2_ENST00000251081.6_Silent_p.D569D	NM_024422.3	NP_077740.1	Q02487	DSC2_HUMAN	desmocollin 2	569	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				bundle of His cell to Purkinje myocyte communication (GO:0086069)|cardiac muscle cell-cardiac muscle cell adhesion (GO:0086042)|cell adhesion (GO:0007155)|cellular response to starvation (GO:0009267)|homophilic cell adhesion (GO:0007156)|regulation of heart rate by cardiac conduction (GO:0086091)|ventricular cardiac muscle cell action potential (GO:0086005)	cell-cell adherens junction (GO:0005913)|cytoplasmic vesicle (GO:0031410)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)	21			OV - Ovarian serous cystadenocarcinoma(10;0.0241)			TATCATTCACGTCTTGAAGTA	0.398																																						ENST00000280904.6																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)	21						c.(1705-1707)gaC>gaT		desmocollin 2							151	125	134					18																	28654830		2203	4300	6503	SO:0001819	synonymous_variant	1824				homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding	g.chr18:28654830G>A	X56807	CCDS11892.1, CCDS11893.1	18q12.1	2014-09-17			ENSG00000134755	ENSG00000134755		"Cadherins / Major cadherins"	3036	protein-coding gene	gene with protein product		125645		DSC3		7774948	Standard	NM_024422		Approved	CDHF2	uc002kwl.4	Q02487	OTTHUMG00000131981	ENST00000280904.6:c.1707C>T	18.37:g.28654830G>A						DSC2_ENST00000251081.6_Silent_p.D569D	p.D569D	NM_024422.3	NP_077740.1	Q02487	DSC2_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.0241)		12	2150	-			569			Cadherin 4.			Silent	SNP	ENST00000280904.6	37	c.1707C>T	CCDS11892.1																																																																																				0.398	DSC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254943.1	NM_004949		15	27	0	0	0	1	0	15	27					A	28654830	G	A	28654830	2	1	305	1	0	0	0	0	0	0	0	1	4766	1136	40	1		1	DSC2	18	28654830	Silent	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	10107884	28654830	49422418	939	15456											
C18orf34	374864	broad.mit.edu	37	chr18	30554609	30554609	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caccagtttgaagtgctcctGccacagtgtgtgcatccttc	7	12	9	13	0	0	1	0	1	0	0	3	1	2	1	4	0	3	3	4	0	1	2	rs376925410		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr18:30554609G>A	ENST00000383096.3	-	22	2607	c.2425C>T	c.(2425-2427)Cag>Tag	p.Q809*	CCDC178_ENST00000579947.1_Nonsense_Mutation_p.Q809*|CCDC178_ENST00000581852.1_Nonsense_Mutation_p.Q14*|CCDC178_ENST00000403303.1_Nonsense_Mutation_p.Q809*|CCDC178_ENST00000402325.1_Nonsense_Mutation_p.Q759*|CCDC178_ENST00000583930.1_Nonsense_Mutation_p.Q833*|CCDC178_ENST00000406524.2_Nonsense_Mutation_p.Q833*|CCDC178_ENST00000579916.1_Nonsense_Mutation_p.Q129*|CCDC178_ENST00000300227.8_Nonsense_Mutation_p.Q771*			Q5BJE1	CC178_HUMAN	coiled-coil domain containing 178	809																	AAGTGCTCCTGCCACAGTGTG	0.498																																						ENST00000383096.3																			0											c.(2425-2427)Cag>Tag		coiled-coil domain containing 178		G	stop/GLN,stop/GLN	0,4406		0,0,2203	55	50	52		2425,2311	2.4	1	18		52	1,8599	1.2+/-3.3	0,1,4299	no	stop-gained,stop-gained	C18orf34	NM_001105528.1,NM_198995.2	,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,	809/868,771/830	30554609	1,13005	2203	4300	6503	SO:0001587	stop_gained	374864							g.chr18:30554609G>A	AK126038	CCDS11906.1, CCDS42424.1	18q12.1	2012-10-15	2012-10-15	2012-10-15	ENSG00000166960	ENSG00000166960			29588	protein-coding gene	gene with protein product			"chromosome 18 open reading frame 34"	C18orf34			Standard	NM_198995		Approved	FLJ44050	uc002kxn.2	Q5BJE1	OTTHUMG00000132279	ENST00000383096.3:c.2425C>T	18.37:g.30554609G>A	ENSP00000372576:p.Gln809*					CCDC178_ENST00000403303.1_Nonsense_Mutation_p.Q809*|CCDC178_ENST00000579947.1_Nonsense_Mutation_p.Q809*|CCDC178_ENST00000583930.1_Nonsense_Mutation_p.Q833*|CCDC178_ENST00000406524.2_Nonsense_Mutation_p.Q833*|CCDC178_ENST00000581852.1_Nonsense_Mutation_p.Q14*|CCDC178_ENST00000579916.1_Nonsense_Mutation_p.Q129*|CCDC178_ENST00000402325.1_Nonsense_Mutation_p.Q759*|CCDC178_ENST00000300227.8_Nonsense_Mutation_p.Q771*	p.Q809*							22	2607	-								A6NDC6|J3KS92|Q6ZP67|Q6ZU20	Nonsense_Mutation	SNP	ENST00000383096.3	37	c.2425C>T	CCDS42424.1	.	.	.	.	.	.	.	.	.	.	G	38	6.811070	0.97857	0.0	1.16E-4	ENSG00000166960	ENST00000403303;ENST00000383096;ENST00000300227;ENST00000406524;ENST00000402325	.	.	.	5.5	2.42	0.29668	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.09084	T	0.74	-2.1849	11.0523	0.47898	0.0:0.573:0.3145:0.1125	.	.	.	.	X	809;809;771;833;759	.	ENSP00000300227:Q771X	Q	-	1	0	C18orf34	28808607	1.000000	0.71417	1.000000	0.80357	0.792000	0.44763	1.153000	0.31676	0.589000	0.29677	0.563000	0.77884	CAG		0.498	CCDC178-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255373.2	NM_198995		13	36	0	0	0	1	0	13	36					A	30554609	G	A	30554609	4	1	305	1	0	0	0	0	0	1	0	0	1902	1328	46	3	186	3	C18orf34	18	30554609	Nonsense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	1899779	30554609	47522639	940	15457											
SYT4	6860	broad.mit.edu	37	chr18	40850401	40850401	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	accagttccttctgctgctgCacccaagactaactgcccga	9	9	7	16	1	1	1	0	0	1	1	2	2	2	1	4	0	5	4	4	0	2	3			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr18:40850401C>T	ENST00000255224.3	-	4	1551	c.1183G>A	c.(1183-1185)Gca>Aca	p.A395T	SYT4_ENST00000590752.1_Missense_Mutation_p.A377T|SYT4_ENST00000586678.1_5'UTR	NM_020783.3	NP_065834.1	Q9H2B2	SYT4_HUMAN	synaptotagmin IV	395					exocytosis (GO:0006887)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of vesicle fusion (GO:0031339)|neurotransmitter secretion (GO:0007269)	cell junction (GO:0030054)|dense core granule (GO:0031045)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|synaptic vesicle (GO:0008021)	calcium ion binding (GO:0005509)|phosphatidylserine binding (GO:0001786)|transporter activity (GO:0005215)			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	44						TCTGCTGCTGCACCCAAGACT	0.483																																					NSCLC(85;81 1419 2855 22820 35912)	ENST00000255224.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	44						c.(1183-1185)Gca>Aca		synaptotagmin IV							146	143	144					18																	40850401		2203	4300	6503	SO:0001583	missense	6860					cell junction|integral to membrane|synaptic vesicle membrane	transporter activity	g.chr18:40850401C>T	BC036538	CCDS11922.1	18q12.3	2013-01-21			ENSG00000132872	ENSG00000132872		"Synaptotagmins"	11512	protein-coding gene	gene with protein product		600103				8058779	Standard	NM_020783		Approved	KIAA1342, HsT1192	uc002law.3	Q9H2B2	OTTHUMG00000132610	ENST00000255224.3:c.1183G>A	18.37:g.40850401C>T	ENSP00000255224:p.Ala395Thr					SYT4_ENST00000590752.1_Missense_Mutation_p.A377T|SYT4_ENST00000586678.1_5'UTR	p.A395T	NM_020783.3	NP_065834.1	Q9H2B2	SYT4_HUMAN			4	1551	-			395					B4DEU3|Q9P2K4	Missense_Mutation	SNP	ENST00000255224.3	37	c.1183G>A	CCDS11922.1	.	.	.	.	.	.	.	.	.	.	C	10.45	1.352521	0.24512	.	.	ENSG00000132872	ENST00000255224;ENST00000442661	T	0.71817	-0.6	5.58	3.79	0.43588	C2 calcium-dependent membrane targeting (1);C2 calcium/lipid-binding domain, CaLB (1);	0.219063	0.48286	N	0.000192	T	0.53094	0.1775	N	0.25890	0.77	0.32144	N	0.585084	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.52215	-0.8605	10	0.22706	T	0.39	.	8.4932	0.33112	0.3884:0.54:0.0:0.0716	.	377;395	B4DEU3;Q9H2B2	.;SYT4_HUMAN	T	395;200	ENSP00000255224:A395T	ENSP00000255224:A395T	A	-	1	0	SYT4	39104399	0.996000	0.38824	0.994000	0.49952	0.766000	0.43426	2.024000	0.41049	0.723000	0.32274	-0.181000	0.13052	GCA		0.483	SYT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255851.2	NM_020783		12	220	0	0	0	1	0	12	220					T	40850401	C	T	40850401	3	4	305	1	0	0	0	0	1	0	0	0	15473	710	25	3	98	3	SYT4	18	40850401	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	10295792	40850401	37226847	941	15458											
SETBP1	26040	broad.mit.edu	37	chr18	42281464	42281464	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggaaggggatcccggtgggCggagagcgcatggagccaga	9	3	21	8	3	0	2	0	0	0	2	1	6	1	5	2	7	2	1	2	7	1	0	rs372870881		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr18:42281464C>T	ENST00000282030.5	+	2	449	c.153C>T	c.(151-153)ggC>ggT	p.G51G	SETBP1_ENST00000426838.4_Silent_p.G51G	NM_015559.2	NP_056374.2	Q9Y6X0	SETBP_HUMAN	SET binding protein 1	51						nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	104				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		TCCCGGTGGGCGGAGAGCGCA	0.622									Schinzel-Giedion syndrome																													ENST00000282030.5																			0				NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	104						c.(151-153)ggC>ggT		SET binding protein 1		C	,	0,4406		0,0,2203	47	43	44		153,153	-9	0.3	18		44	3,8597	3.0+/-9.4	0,3,4297	no	coding-synonymous,coding-synonymous	SETBP1	NM_001130110.1,NM_015559.2	,	0,3,6500	TT,TC,CC		0.0349,0.0,0.0231	,	51/243,51/1597	42281464	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	26040	Schinzel-Giedion syndrome	Familial Cancer Database	SGC, Schinzel-Giedion Midface Retraction syndrome		nucleus	DNA binding	g.chr18:42281464C>T	AB022660	CCDS11923.2, CCDS45859.1	18q21.1	2008-08-01			ENSG00000152217	ENSG00000152217			15573	protein-coding gene	gene with protein product		611060				11231286	Standard	NM_015559		Approved	SEB, KIAA0437	uc010dni.3	Q9Y6X0	OTTHUMG00000132613	ENST00000282030.5:c.153C>T	18.37:g.42281464C>T						SETBP1_ENST00000426838.4_Silent_p.G51G	p.G51G	NM_015559.2	NP_056374.2	Q9Y6X0	SETBP_HUMAN		Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)	2	449	+			51					A6H8W5|Q6P6C3|Q9UEF3	Silent	SNP	ENST00000282030.5	37	c.153C>T	CCDS11923.2																																																																																				0.622	SETBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255854.4	NM_001130110		6	50	0	0	0	1	0	6	50					T	42281464	C	T	42281464	2	4	305	1	0	0	0	0	0	0	0	1	14129	755	27	1		1	SETBP1	18	42281464	Silent	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	1431063	42281464	35795784	942	15459											
TCEB3C	728929	broad.mit.edu	37	chr18	44549167	44549167	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcggcattgtctttctctgTgcggtacggctgatcgggcg	3	13	15	10	5	2	1	0	1	2	0	4	1	2	1	0	4	3	3	0	4	1	3			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr18:44549167T>G	ENST00000451265.1	-	1	1367	c.1132A>C	c.(1132-1134)Aca>Cca	p.T378P	KATNAL2_ENST00000356157.7_Intron|KATNAL2_ENST00000592005.1_Intron|KATNAL2_ENST00000245121.5_Intron	NM_001100817.1	NP_001094287.1	Q3SY89	EA3L1_HUMAN	transcription elongation factor B polypeptide 3C-like	378	Activation domain. {ECO:0000250}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)			central_nervous_system(1)|lung(1)|prostate(1)	3						TCTTTCTCTGTGCGGTACGGC	0.572																																						ENST00000451265.1																			0				central_nervous_system(1)|lung(1)|prostate(1)	3						c.(1132-1134)Aca>Cca		transcription elongation factor B polypeptide 3C-like							210	179	189					18																	44549167		1692	3371	5063	SO:0001583	missense	728929							g.chr18:44549167T>G			18q21.1	2007-07-10				ENSG00000275553			31007	protein-coding gene	gene with protein product							Standard	NM_001100817		Approved	HsT828		Q3SY89		ENST00000451265.1:c.1132A>C	18.37:g.44549167T>G	ENSP00000409932:p.Thr378Pro					KATNAL2_ENST00000245121.5_Intron|KATNAL2_ENST00000592005.1_Intron|KATNAL2_ENST00000356157.7_Intron	p.T378P	NM_001100817.1	NP_001094287.1					1	1367	-								Q3MI93	Missense_Mutation	SNP	ENST00000451265.1	37	c.1132A>C	CCDS42433.1	.	.	.	.	.	.	.	.	.	.	T	7.766	0.706463	0.15239	.	.	ENSG00000234298	ENST00000451265	T	0.30448	1.53	1.5	-2.19	0.07015	.	1.252680	0.06332	N	0.706307	T	0.14830	0.0358	N	0.08118	0	0.09310	N	1	B	0.31241	0.315	B	0.29663	0.105	T	0.26780	-1.0093	10	0.72032	D	0.01	0.0126	5.9977	0.19503	0.0:0.5052:0.0:0.4948	.	378	Q3SY89	EA3L1_HUMAN	P	378	ENSP00000409932:T378P	ENSP00000409932:T378P	T	-	1	0	TCEB3CL	42803165	1.000000	0.71417	0.000000	0.03702	0.001000	0.01503	1.964000	0.40462	-0.596000	0.05821	-0.387000	0.06579	ACA		0.572	TCEB3CL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451071.1	XM_001132059		28	339	0	0	0	1	0	28	339					G	44549167	T	G	44549167	3	3	305	1	0	0	0	0	1	0	0	0	15680	1696	59	5	512	5	TCEB3C	18	44549167	Missense_Mutation	SNP	T	TCGA-KK-A59V-01A-11D-A29Q-08	2267703	44549167	33528081	943	15460											
LIPG	9388	broad.mit.edu	37	chr18	47113130	47113130	+	Frame_Shift_Del	DEL	C	C	-																															tcctagactgacattttgtaCagaagaccctgagaacacca																										TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr18:47113130delC	ENST00000261292.4	+	9	1669	c.1391delC	c.(1390-1392)acafs	p.T464fs	LIPG_ENST00000427224.2_Frame_Shift_Del_p.T390fs	NM_006033.2	NP_006024.1	Q9Y5X9	LIPE_HUMAN	lipase, endothelial	464	PLAT. {ECO:0000255|PROSITE- ProRule:PRU00152}.				cell proliferation (GO:0008283)|cholesterol homeostasis (GO:0042632)|high-density lipoprotein particle remodeling (GO:0034375)|lipid metabolic process (GO:0006629)|phospholipid catabolic process (GO:0009395)|phospholipid homeostasis (GO:0055091)|positive regulation of cholesterol transport (GO:0032376)|positive regulation of high-density lipoprotein particle clearance (GO:0010983)|regulation of lipoprotein metabolic process (GO:0050746)|response to nutrient (GO:0007584)|reverse cholesterol transport (GO:0043691)	extracellular space (GO:0005615)	heparin binding (GO:0008201)|lipoprotein lipase activity (GO:0004465)|phosphatidylcholine 1-acylhydrolase activity (GO:0008970)|phospholipase activity (GO:0004620)			autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)|skin(2)	18						ACATTTTGTACAGAAGACCCT	0.507																																					Pancreas(126;280 1778 12814 26243 34948)	ENST00000261292.4																			0				autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)|skin(2)	18						c.(1390-1392)aafs		lipase, endothelial							93	92	92					18																	47113130		2203	4300	6503	SO:0001589	frameshift_variant	9388				cholesterol homeostasis|high-density lipoprotein particle remodeling|phospholipid catabolic process|phospholipid homeostasis|positive regulation of cholesterol transport|positive regulation of high-density lipoprotein particle clearance|reverse cholesterol transport	extracellular space	heparin binding|lipoprotein lipase activity|phospholipase A1 activity|protein binding|triglyceride lipase activity	g.chr18:47113130delC	AF118767	CCDS11938.1	18q21.1	2006-04-22				ENSG00000101670			6623	protein-coding gene	gene with protein product		603684				10318835, 10192396	Standard	XM_005258390		Approved	EDL	uc002ldv.3	Q9Y5X9		ENST00000261292.4:c.1391delC	18.37:g.47113130delC	ENSP00000261292:p.Thr464fs					LIPG_ENST00000427224.2_Frame_Shift_Del_p.T390fs	p.T464fs	NM_006033.2	NP_006024.1	Q9Y5X9	LIPE_HUMAN			9	1669	+			464			PLAT.		B0LPG6|Q6P9C8|Q6UW82	Frame_Shift_Del	DEL	ENST00000261292.4	37	c.1391delC	CCDS11938.1																																																																																				0.507	LIPG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447546.1	NM_006033		21	41						21	41	---	---	---	---	-	47113130	C	-	47113130	7	5	305	1	0	1	0	1	0	0	0	0	8823	478	17	0	1425	0	LIPG	18	47113130	Frame_Shift_Del	DEL	C	TCGA-KK-A59V-01A-11D-A29Q-08	2563963	47113130	30964118	944	15461											
LMAN1	3998	broad.mit.edu	37	chr18	57013285	57013285	+	Splice_Site	DEL	T	T	-																															tttctttatctggtgtgggcTtttttttggagttttggaat																										TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr18:57013285delT	ENST00000251047.5	-	8	1540		c.e8-2		LMAN1_ENST00000587940.1_Splice_Site	NM_005570.3	NP_005561.1	P49257	LMAN1_HUMAN	lectin, mannose-binding, 1						blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum organization (GO:0007029)|ER to Golgi vesicle-mediated transport (GO:0006888)|Golgi organization (GO:0007030)|positive regulation of organelle organization (GO:0010638)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)|protein transport (GO:0015031)	endoplasmic reticulum membrane (GO:0005789)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|ER to Golgi transport vesicle membrane (GO:0012507)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|sarcomere (GO:0030017)	mannose binding (GO:0005537)|metal ion binding (GO:0046872)|unfolded protein binding (GO:0051082)			breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	16		Colorectal(73;0.0946)			Antihemophilic Factor(DB00025)	TGGTGTGGGCTTTTTTTTGGA	0.294																																						ENST00000251047.5																			0				breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	16						c.e8-2		lectin, mannose-binding, 1	Antihemophilic Factor(DB00025)						75	83	80					18																	57013285		2202	4298	6500	SO:0001630	splice_region_variant	3998				blood coagulation|ER to Golgi vesicle-mediated transport|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|protein transport	endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane	mannose binding|metal ion binding|unfolded protein binding	g.chr18:57013285delT	X71661	CCDS11974.1	18q21.3-q22	2014-09-17	2002-08-30		ENSG00000074695	ENSG00000074695			6631	protein-coding gene	gene with protein product	"endoplasmic reticulum-golgi intermediate compartment protein 53"	601567	"coagulation factor V-factor VIII combined deficiency"	F5F8D		9546392, 8854877	Standard	NM_005570		Approved	MR60, ERGIC-53, ERGIC53, gp58, MCFD1, FMFD1	uc002lhz.3	P49257	OTTHUMG00000132758	ENST00000251047.5:c.823-2A>-	18.37:g.57013285delT						LMAN1_ENST00000587940.1_Splice_Site		NM_005570.3	NP_005561.1	P49257	LMAN1_HUMAN			8	1540	-		Colorectal(73;0.0946)						Q12895|Q8N5I7|Q9UQG1|Q9UQG2|Q9UQG3|Q9UQG4|Q9UQG5|Q9UQG6|Q9UQG7|Q9UQG8|Q9UQG9|Q9UQH0|Q9UQH1|Q9UQH2	Splice_Site	DEL	ENST00000251047.5	37		CCDS11974.1																																																																																				0.294	LMAN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256129.2	NM_005570	Intron	27	89						27	89	---	---	---	---	-	57013285	T	-	57013285	8	5	305	1	0	1	0	1	0	0	1	0	8836	1623	56	0	735	0	LMAN1	18	57013285	Splice_Site	DEL	T	TCGA-KK-A59V-01A-11D-A29Q-08	9900155	57013285	21063963	945	15462											
SERPINB11	89778	broad.mit.edu	37	chr18	61390555	61390555	+	RNA	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atgagagctcagttcaaggcGaaccaccccttccttttctt	9	12	7	13	1	3	1	2	1	1	1	4	3	4	1	4	1	2	2	4	1	2	5			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr18:61390555G>A	ENST00000382749.5	+	0	1346				SERPINB11_ENST00000544088.1_RNA|SERPINB11_ENST00000536691.1_RNA|SERPINB11_ENST00000538847.1_RNA			Q96P15	SPB11_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 11 (gene/pseudogene)						negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.A367A(1)		breast(1)|cervix(1)|kidney(1)|lung(3)	6		Esophageal squamous(42;0.129)				AGTTCAAGGCGAACCACCCCT	0.522																																					Ovarian(27;496 784 5942 8975 23930)	ENST00000544088.1																			1	Substitution - coding silent(1)	p.A367A(1)	central_nervous_system(1)	breast(1)|cervix(1)|kidney(1)|lung(3)	6								serpin peptidase inhibitor, clade B (ovalbumin), member 11 (gene/pseudogene)							129	121	124					18																	61390555		2198	4297	6495			89778				regulation of proteolysis	cytoplasm	serine-type endopeptidase inhibitor activity	g.chr18:61390555G>A			18q21.33	2014-02-18	2009-01-22		ENSG00000206072	ENSG00000206072		"Serine (or cysteine) peptidase inhibitors"	14221	protein-coding gene	gene with protein product		615682	"serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 11", "serpin peptidase inhibitor, clade B (ovalbumin), member 11"			17562709, 24172014	Standard	XM_006722569		Approved	EPIPIN	uc002ljk.4	Q96P15	OTTHUMG00000060404		18.37:g.61390555G>A						SERPINB11_ENST00000536691.1_RNA|SERPINB11_ENST00000382749.5_RNA|SERPINB11_ENST00000538847.1_RNA		NM_080475.2	NP_536723.2	Q96P15	SPB11_HUMAN			0	1163	+		Esophageal squamous(42;0.129)						A8K9R0|Q5Q120|Q5Q121|Q5Q122|Q5Q123|Q6ISD3|Q96P13|Q96P14	RNA	SNP	ENST00000382749.5	37																																																																																						0.522	SERPINB11-002	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000207392.3	NM_080475		27	80	0	0	0	1	0	27	80					A	61390555	G	A	61390555	1	1	305	0	1	0	0	0	0	0	0	0	14098	1045	37	2		2	SERPINB11	18	61390555	RNA	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	4377270	61390555	16686693	946	15463											
CNDP1	84735	broad.mit.edu	37	chr18	72228166	72228166	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgatcccacgaaaggcaccGtgtgcttctacggccacttg	8	8	11	14	4	1	0	0	0	1	0	2	2	2	0	3	2	2	2	3	2	2	3			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr18:72228166G>A	ENST00000358821.3	+	4	607	c.379G>A	c.(379-381)Gtg>Atg	p.V127M	CNDP1_ENST00000585136.1_Intron|RP11-231E4.3_ENST00000583702.1_RNA|CNDP1_ENST00000582365.1_Missense_Mutation_p.V84M	NM_032649.5	NP_116038	Q96KN2	CNDP1_HUMAN	carnosine dipeptidase 1 (metallopeptidase M20 family)	127						extracellular region (GO:0005576)	carboxypeptidase activity (GO:0004180)|dipeptidase activity (GO:0016805)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|tripeptidase activity (GO:0034701)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27		Esophageal squamous(42;0.129)|Prostate(75;0.157)|Melanoma(33;0.211)		BRCA - Breast invasive adenocarcinoma(31;0.109)		GAAAGGCACCGTGTGCTTCTA	0.602																																					Melanoma(32;1029 1042 25286 38395 44237)	ENST00000582365.1																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						c.(250-252)Gtg>Atg		carnosine dipeptidase 1 (metallopeptidase M20 family)							117	113	114					18																	72228166		2203	4300	6503	SO:0001583	missense	84735				proteolysis	extracellular region	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity|tripeptidase activity	g.chr18:72228166G>A		CCDS12007.1	18q22.3	2014-07-14			ENSG00000150656	ENSG00000150656	3.4.13.20		20675	protein-coding gene	gene with protein product	"carnosinase 1", "glutamate carboxypeptidase-like protein 2"	609064				12473676	Standard	NM_032649		Approved	MGC10825, CN1, CPGL2, HsT2308	uc002llq.3	Q96KN2	OTTHUMG00000132852	ENST00000358821.3:c.379G>A	18.37:g.72228166G>A	ENSP00000351682:p.Val127Met					CNDP1_ENST00000358821.3_Missense_Mutation_p.V127M|CNDP1_ENST00000585136.1_Intron	p.V84M			Q96KN2	CNDP1_HUMAN		BRCA - Breast invasive adenocarcinoma(31;0.109)	3	316	+		Esophageal squamous(42;0.129)|Prostate(75;0.157)|Melanoma(33;0.211)	127					Q14D40|Q17S05|Q2TBG0|Q6UWK2|Q9BT98	Missense_Mutation	SNP	ENST00000358821.3	37	c.250G>A	CCDS12007.1	.	.	.	.	.	.	.	.	.	.	G	18.24	3.579263	0.65878	.	.	ENSG00000150656	ENST00000358821	T	0.11277	2.79	4.93	4.93	0.64822	.	0.137561	0.47852	D	0.000212	T	0.38558	0.1045	M	0.90082	3.085	0.58432	D	0.999998	D	0.89917	1.0	D	0.72338	0.977	T	0.43766	-0.9371	10	0.87932	D	0	-29.7097	12.6139	0.56565	0.0824:0.0:0.9176:0.0	.	127	Q96KN2	CNDP1_HUMAN	M	127	ENSP00000351682:V127M	ENSP00000351682:V127M	V	+	1	0	CNDP1	70379146	1.000000	0.71417	0.935000	0.37517	0.570000	0.35934	4.174000	0.58256	2.280000	0.76307	0.655000	0.94253	GTG		0.602	CNDP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256326.1	NM_032649		12	194	0	0	0	1	0	12	194					A	72228166	G	A	72228166	3	1	305	1	0	0	0	0	1	0	0	0	3593	1145	40	1	393	1	CNDP1	18	72228166	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	10837611	72228166	5849082	947	15464											
ZNF407	55628	broad.mit.edu	37	chr18	72345748	72345748	+	Frame_Shift_Del	DEL	G	G	-																															atatcattgttggccctgaaGggggtagccttgaagctggt																								rs144140002		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr18:72345748delG	ENST00000299687.5	+	1	2773	c.2773delG	c.(2773-2775)gggfs	p.G926fs	ZNF407_ENST00000309902.6_Frame_Shift_Del_p.G926fs|ZNF407_ENST00000582337.1_Frame_Shift_Del_p.G926fs|ZNF407_ENST00000577538.1_Frame_Shift_Del_p.G926fs	NM_017757.2	NP_060227.2	Q9C0G0	ZN407_HUMAN	zinc finger protein 407	926					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2)	67		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.184)		TGGCCCTGAAGGGGGTAGCCT	0.463																																						ENST00000299687.5																			0				central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2)	67						c.(2773-2775)ggfs		zinc finger protein 407							78	79	79					18																	72345748		1920	4117	6037	SO:0001589	frameshift_variant	55628				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr18:72345748delG	AB051490	CCDS45885.1, CCDS54191.1, CCDS58634.1	18q23	2013-01-08			ENSG00000215421	ENSG00000215421		"Zinc fingers, C2H2-type"	19904	protein-coding gene	gene with protein product		615894				11214970	Standard	NM_017757		Approved	FLJ20307, FLJ13839, KIAA1703	uc002llw.2	Q9C0G0		ENST00000299687.5:c.2773delG	18.37:g.72345748delG	ENSP00000299687:p.Gly926fs					ZNF407_ENST00000309902.6_Frame_Shift_Del_p.G926fs|ZNF407_ENST00000582337.1_Frame_Shift_Del_p.G926fs|ZNF407_ENST00000577538.1_Frame_Shift_Del_p.G926fs	p.G926fs	NM_017757.2	NP_060227.2	Q9C0G0	ZN407_HUMAN		BRCA - Breast invasive adenocarcinoma(31;0.184)	1	2773	+		Esophageal squamous(42;0.131)|Prostate(75;0.173)	926					B5MD54|Q96MY0|Q9H8A1|Q9NXD4|Q9NXD7	Frame_Shift_Del	DEL	ENST00000299687.5	37	c.2773delG	CCDS45885.1																																																																																				0.463	ZNF407-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444903.1	NM_017757		8	105						8	105	---	---	---	---	-	72345748	G	-	72345748	7	5	305	1	0	1	0	1	0	0	0	0	17884	1000	35	0	2775	0	ZNF407	18	72345748	Frame_Shift_Del	DEL	G	TCGA-KK-A59V-01A-11D-A29Q-08	117582	72345748	5731500	948	15465											
ZNF407	55628	broad.mit.edu	37	chr18	72776115	72776115	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggggagatctcgcagatcatCgtgacggaggagctggtcca	9	7	16	9	3	2	3	1	1	1	2	5	6	3	5	1	5	1	2	1	5	0	0			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr18:72776115C>T	ENST00000299687.5	+	8	6438	c.6438C>T	c.(6436-6438)atC>atT	p.I2146I		NM_017757.2	NP_060227.2	Q9C0G0	ZN407_HUMAN	zinc finger protein 407	2146					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2)	67		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.184)		CGCAGATCATCGTGACGGAGG	0.652																																						ENST00000299687.5																			0				central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2)	67						c.(6436-6438)atC>atT		zinc finger protein 407							29	35	33					18																	72776115		2182	4289	6471	SO:0001819	synonymous_variant	55628				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr18:72776115C>T	AB051490	CCDS45885.1, CCDS54191.1, CCDS58634.1	18q23	2013-01-08			ENSG00000215421	ENSG00000215421		"Zinc fingers, C2H2-type"	19904	protein-coding gene	gene with protein product		615894				11214970	Standard	NM_017757		Approved	FLJ20307, FLJ13839, KIAA1703	uc002llw.2	Q9C0G0		ENST00000299687.5:c.6438C>T	18.37:g.72776115C>T							p.I2146I	NM_017757.2	NP_060227.2	Q9C0G0	ZN407_HUMAN		BRCA - Breast invasive adenocarcinoma(31;0.184)	8	6438	+		Esophageal squamous(42;0.131)|Prostate(75;0.173)	2146					B5MD54|Q96MY0|Q9H8A1|Q9NXD4|Q9NXD7	Silent	SNP	ENST00000299687.5	37	c.6438C>T	CCDS45885.1																																																																																				0.652	ZNF407-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444903.1	NM_017757		9	8	0	0	0	1	0	9	8					T	72776115	C	T	72776115	2	4	305	1	0	0	0	0	0	0	0	1	17884	874	31	2		2	ZNF407	18	72776115	Silent	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	430367	72776115	5301133	949	15466											
SALL3	27164	broad.mit.edu	37	chr18	76756938	76756938	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aacgcccccgcgagacgcggCcgccgcctgtctgtggagaa	7	4	14	16	7	1	2	0	0	1	2	1	4	1	2	5	2	1	0	5	2	2	0			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr18:76756938C>T	ENST00000537592.2	+	3	3519	c.3519C>T	c.(3517-3519)ggC>ggT	p.G1173G	SALL3_ENST00000536229.3_Silent_p.G968G|SALL3_ENST00000575389.2_Silent_p.G1101G	NM_171999.3	NP_741996.2	Q9BXA9	SALL3_HUMAN	spalt-like transcription factor 3	1173					forelimb morphogenesis (GO:0035136)|hindlimb morphogenesis (GO:0035137)|negative regulation of smoothened signaling pathway (GO:0045879)|olfactory bulb interneuron development (GO:0021891)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)		CGAGACGCGGCCGCCGCCTGT	0.612																																						ENST00000536229.3																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	74						c.(2902-2904)ggC>ggT		spalt-like transcription factor 3							24	27	26					18																	76756938		2203	4300	6503	SO:0001819	synonymous_variant	27164				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr18:76756938C>T	AJ007421	CCDS12013.1	18q23	2013-10-17	2013-10-17		ENSG00000256463	ENSG00000256463		"Zinc fingers, C2H2-type"	10527	protein-coding gene	gene with protein product		605079	"sal (Drosophila)-like 3", "sal-like 3 (Drosophila)"			10610715	Standard	NM_171999		Approved	ZNF796	uc002lmt.3	Q9BXA9	OTTHUMG00000132896	ENST00000537592.2:c.3519C>T	18.37:g.76756938C>T						SALL3_ENST00000575389.2_Silent_p.G1101G|SALL3_ENST00000537592.2_Silent_p.G1173G	p.G968G			Q9BXA9	SALL3_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)	3	3613	+		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)	1173					Q9UGH1	Silent	SNP	ENST00000537592.2	37	c.2904C>T	CCDS12013.1																																																																																				0.612	SALL3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256397.1	NM_171999		11	37	0	0	0	1	0	11	37					T	76756938	C	T	76756938	2	4	305	1	0	0	0	0	0	0	0	1	13812	726	26	3		3	SALL3	18	76756938	Silent	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	3980823	76756938	1320310	950	15467											
PTBP1	5725	broad.mit.edu	37	chr19	803588	803588	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgacgagcttttctctactTgtgtcactaacggaccgttt	7	15	8	11	3	2	1	1	1	1	0	3	3	2	2	1	1	3	2	1	1	2	6			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:803588T>C	ENST00000349038.4	+	3	140	c.67T>C	c.(67-69)Tgt>Cgt	p.C23R	MIR4745_ENST00000577608.1_RNA|PTBP1_ENST00000350092.4_Intron|PTBP1_ENST00000394601.4_Missense_Mutation_p.C23R|PTBP1_ENST00000356948.6_Missense_Mutation_p.C23R	NM_031991.3	NP_114368.1	P26599	PTBP1_HUMAN	polypyrimidine tract binding protein 1	23					alternative mRNA splicing, via spliceosome (GO:0000380)|gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|negative regulation of muscle cell differentiation (GO:0051148)|negative regulation of RNA splicing (GO:0033119)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing (GO:0008380)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|poly-pyrimidine tract binding (GO:0008187)|pre-mRNA binding (GO:0036002)|RNA binding (GO:0003723)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(4)	19		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;0.000172)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TTTCTCTACTTGTGTCACTAA	0.612																																						ENST00000356948.6																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(4)	19						c.(67-69)Tgt>Cgt		polypyrimidine tract binding protein 1							128	120	123					19																	803588		2203	4300	6503	SO:0001583	missense	5725				negative regulation of muscle cell differentiation|nuclear mRNA splicing, via spliceosome|regulation of alternative nuclear mRNA splicing, via spliceosome	heterogeneous nuclear ribonucleoprotein complex|nucleolus|nucleoplasm	mRNA binding|nucleotide binding|poly-pyrimidine tract binding|protein binding	g.chr19:803588T>C	X60648	CCDS32859.1, CCDS42456.1, CCDS45892.1	19p13.3	2013-07-16	2002-01-25	2002-01-25	ENSG00000011304	ENSG00000011304		"RNA binding motif (RRM) containing"	9583	protein-coding gene	gene with protein product	"heterogeneous nuclear ribonucleoprotein I"	600693	"polypyrimidine tract binding protein (heterogeneous nuclear ribonucleoprotein I)"	PTB		1906036, 11024286	Standard	NM_002819		Approved	HNRPI, HNRNP-I, PTB2, PTB3, PTB-1, PTB4, pPTB	uc002lpp.2	P26599		ENST00000349038.4:c.67T>C	19.37:g.803588T>C	ENSP00000014112:p.Cys23Arg					PTBP1_ENST00000394601.4_Missense_Mutation_p.C23R|PTBP1_ENST00000350092.4_Intron|PTBP1_ENST00000349038.4_Missense_Mutation_p.C23R	p.C23R	NM_002819.4	NP_002810.1	P26599	PTBP1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	3	490	+		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;0.000172)|Hepatocellular(1079;0.137)|Renal(1328;0.228)	23					Q9BUQ0	Missense_Mutation	SNP	ENST00000349038.4	37	c.67T>C	CCDS32859.1	.	.	.	.	.	.	.	.	.	.	T	7.323	0.617400	0.14129	.	.	ENSG00000011304	ENST00000356948;ENST00000394601;ENST00000349038	T;T;T	0.42900	0.96;0.97;1.26	4.37	2.21	0.28008	.	0.113495	0.64402	D	0.000009	T	0.36580	0.0972	L	0.44542	1.39	0.80722	D	1	B;P;P	0.36909	0.009;0.573;0.57	B;B;B	0.42771	0.011;0.397;0.317	T	0.10870	-1.0611	10	0.59425	D	0.04	-18.9895	6.2047	0.20595	0.0:0.0881:0.1616:0.7503	.	23;23;23	P26599;P26599-2;Q9BUQ0	PTBP1_HUMAN;.;.	R	23	ENSP00000349428:C23R;ENSP00000408096:C23R;ENSP00000014112:C23R	ENSP00000014112:C23R	C	+	1	0	PTBP1	754588	1.000000	0.71417	0.165000	0.22776	0.104000	0.19210	3.450000	0.52957	0.169000	0.19679	-0.379000	0.06801	TGT		0.612	PTBP1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457605.1			24	135	0	0	0	1	0	24	135					C	803588	T	C	803588	3	2	305	1	0	0	0	0	1	0	0	0	12725	1812	63	4	77	4	PTBP1	19	803588	Missense_Mutation	SNP	T	TCGA-KK-A59V-01A-11D-A29Q-08		803588	58325395	951	15468											
AP3D1	8943	broad.mit.edu	37	chr19	2116221	2116221	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcaccttctgtggcgatggCgagctcttgatgtagaaggg	7	11	14	9	2	3	2	1	1	2	1	3	4	3	2	1	3	1	2	1	3	2	3	rs373890557		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:2116221C>T	ENST00000345016.5	-	18	2289	c.2058G>A	c.(2056-2058)tcG>tcA	p.S686S	AP3D1_ENST00000356926.4_Silent_p.S595S|AP3D1_ENST00000350812.6_Silent_p.S517S|AP3D1_ENST00000355272.6_Silent_p.S686S	NM_003938.6	NP_003929.4	O14617	AP3D1_HUMAN	adaptor-related protein complex 3, delta 1 subunit	686					anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|antigen processing and presentation, exogenous lipid antigen via MHC class Ib (GO:0048007)|endosome to melanosome transport (GO:0035646)|eye pigment biosynthetic process (GO:0006726)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|positive regulation of NK T cell differentiation (GO:0051138)|protein localization to membrane (GO:0072657)|protein localization to organelle (GO:0033365)|regulation of sequestering of zinc ion (GO:0061088)|synaptic vesicle membrane organization (GO:0048499)	endosome membrane (GO:0010008)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|membrane coat (GO:0030117)|terminal bouton (GO:0043195)	protein transporter activity (GO:0008565)|transporter activity (GO:0005215)			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(23)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GTGGCGATGGCGAGCTCTTGA	0.652																																						ENST00000355272.6																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(23)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						c.(2056-2058)tcG>tcA		adaptor-related protein complex 3, delta 1 subunit		C	,	1,4197		0,1,2098	99	113	108		1785,2058	-10.6	0	19		108	0,8430		0,0,4215	no	coding-synonymous,coding-synonymous	AP3D1	NM_001077523.1,NM_003938.5	,	0,1,6313	TT,TC,CC		0.0,0.0238,0.0079	,	595/1113,686/1154	2116221	1,12627	2099	4215	6314	SO:0001819	synonymous_variant	8943				eye pigment biosynthetic process|intracellular protein transport|regulation of sequestering of zinc ion|vesicle-mediated transport	endosome membrane|Golgi membrane|membrane coat	binding|protein transporter activity	g.chr19:2116221C>T	U91930	CCDS42459.1, CCDS58638.1	19p13.3	2014-09-04			ENSG00000065000	ENSG00000065000			568	protein-coding gene	gene with protein product		607246				9151686, 9303295	Standard	NM_003938		Approved	ADTD	uc002lva.4	O14617	OTTHUMG00000180354	ENST00000345016.5:c.2058G>A	19.37:g.2116221C>T						AP3D1_ENST00000345016.5_Silent_p.S686S|AP3D1_ENST00000356926.4_Silent_p.S595S|AP3D1_ENST00000350812.6_Silent_p.S517S	p.S686S	NM_001261826.1	NP_001248755.1	O14617	AP3D1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	18	2264	-		Hepatocellular(1079;0.137)	686					O00202|O75262|Q59HF5|Q96G11|Q9H3C6	Silent	SNP	ENST00000345016.5	37	c.2058G>A	CCDS42459.1																																																																																				0.652	AP3D1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000450912.1			8	18	0	0	0	1	0	8	18					T	2116221	C	T	2116221	2	4	305	1	0	0	0	0	0	0	0	1	746	755	27	1		1	AP3D1	19	2116221	Silent	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	1312633	2116221	57012762	952	15469											
TMPRSS9	360200	broad.mit.edu	37	chr19	2408385	2408385	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgacgaagtgggtggcctacGtgggtgcgacctacctcagc	7	7	15	12	4	1	0	1	0	0	0	1	3	1	0	3	3	4	0	3	3	3	2	rs571520737		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:2408385G>A	ENST00000332578.3	+	7	772	c.772G>A	c.(772-774)Gtg>Atg	p.V258M		NM_182973.1	NP_892018.1	Q7Z410	TMPS9_HUMAN	transmembrane protease, serine 9	258	Peptidase S1 1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				plasminogen activation (GO:0031639)	integral component of plasma membrane (GO:0005887)	serine-type endopeptidase activity (GO:0004252)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGTGGCCTACGTGGGTGCGAC	0.667													G|||	1	0.000199681	8e-04	0	5008	,	,		13919	0		0	False		,,,				2504	0					ENST00000332578.3																			0				breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(772-774)Gtg>Atg		transmembrane protease, serine 9							59	55	56					19																	2408385		2203	4299	6502	SO:0001583	missense	360200				proteolysis	integral to plasma membrane	serine-type endopeptidase activity	g.chr19:2408385G>A	AJ488946	CCDS12088.1	19p13.3	2010-04-13						"Serine peptidases / Transmembrane"	30079	protein-coding gene	gene with protein product	"polyserase 1"	610477				12886014	Standard	NM_182973		Approved		uc010xgx.2	Q7Z410		ENST00000332578.3:c.772G>A	19.37:g.2408385G>A	ENSP00000330264:p.Val258Met						p.V258M	NM_182973.1	NP_892018.1	Q7Z410	TMPS9_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	7	772	+			258			Peptidase S1 1.		Q6ZND6|Q7Z411	Missense_Mutation	SNP	ENST00000332578.3	37	c.772G>A	CCDS12088.1	.	.	.	.	.	.	.	.	.	.	G	11.88	1.770797	0.31320	.	.	ENSG00000178297	ENST00000395264;ENST00000332578	D	0.89552	-2.53	4.67	3.6	0.41247	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.301114	0.23135	U	0.051540	D	0.86867	0.6036	L	0.35341	1.055	0.09310	N	1	P;D	0.65815	0.949;0.995	P;P	0.57425	0.82;0.775	T	0.76517	-0.2930	10	0.27082	T	0.32	.	7.2687	0.26244	0.0935:0.1736:0.7328:0.0	.	258;292	Q7Z410;E7EMP4	TMPS9_HUMAN;.	M	292;258	ENSP00000330264:V258M	ENSP00000330264:V258M	V	+	1	0	TMPRSS9	2359385	0.000000	0.05858	0.283000	0.24790	0.355000	0.29361	0.653000	0.24902	0.924000	0.37069	0.491000	0.48974	GTG		0.667	TMPRSS9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451330.3	NM_182973		23	78	0	0	0	1	0	23	78					A	2408385	G	A	2408385	3	1	305	1	0	0	0	0	1	0	0	0	16250	1145	40	1	798	1	TMPRSS9	19	2408385	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	292164	2408385	56720598	953	15470											
THOP1	7064	broad.mit.edu	37	chr19	2806990	2806990	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctggggttccacacgcacGccgactatgtcctggagatg	7	9	13	12	3	0	1	0	0	0	1	2	3	2	1	3	3	1	3	3	3	1	2			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:2806990G>A	ENST00000307741.6	+	7	1029	c.826G>A	c.(826-828)Gcc>Acc	p.A276T	THOP1_ENST00000395212.4_5'Flank|THOP1_ENST00000591149.1_3'UTR|THOP1_ENST00000586677.1_Missense_Mutation_p.A155T	NM_003249.3	NP_003240.1	P52888	THOP1_HUMAN	thimet oligopeptidase 1	276					intracellular signal transduction (GO:0035556)|peptide metabolic process (GO:0006518)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)|peptide binding (GO:0042277)			NS(1)|central_nervous_system(1)|endometrium(1)|lung(8)|ovary(2)|skin(1)	14				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCACACGCACGCCGACTATGT	0.627																																						ENST00000307741.6																			0				NS(1)|central_nervous_system(1)|endometrium(1)|lung(8)|ovary(2)|skin(1)	14						c.(826-828)Gcc>Acc		thimet oligopeptidase 1							98	81	87					19																	2806990		2202	4299	6501	SO:0001583	missense	7064				proteolysis	cytoplasm	metal ion binding|metalloendopeptidase activity|protein binding	g.chr19:2806990G>A		CCDS12095.1	19p13.3	2008-02-05				ENSG00000172009	3.4.24.15		11793	protein-coding gene	gene with protein product		601117				9790774	Standard	NM_003249		Approved		uc002lwj.3	P52888		ENST00000307741.6:c.826G>A	19.37:g.2806990G>A	ENSP00000304467:p.Ala276Thr					THOP1_ENST00000591149.1_3'UTR|THOP1_ENST00000586677.1_Missense_Mutation_p.A155T	p.A276T	NM_003249.3	NP_003240.1	P52888	THOP1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	7	1029	+			276					B3KSE2|Q9UCB3	Missense_Mutation	SNP	ENST00000307741.6	37	c.826G>A	CCDS12095.1	.	.	.	.	.	.	.	.	.	.	G	19.66	3.869592	0.72065	.	.	ENSG00000172009	ENST00000307741	T	0.15834	2.39	4.94	4.94	0.65067	Neurolysin/Thimet oligopeptidase, domain 2 (1);	0.054506	0.64402	D	0.000001	T	0.50274	0.1606	H	0.97516	4.02	0.80722	D	1	D;D	0.76494	0.999;0.999	P;P	0.53649	0.731;0.731	T	0.71411	-0.4601	10	0.62326	D	0.03	-35.7284	16.7237	0.85416	0.0:0.0:1.0:0.0	.	155;276	B4DU96;P52888	.;THOP1_HUMAN	T	276	ENSP00000304467:A276T	ENSP00000304467:A276T	A	+	1	0	THOP1	2757990	1.000000	0.71417	0.999000	0.59377	0.256000	0.26092	6.950000	0.75977	2.279000	0.76181	0.491000	0.48974	GCC		0.627	THOP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451587.2			6	49	0	0	0	1	0	6	49					A	2806990	G	A	2806990	3	1	305	1	0	0	0	0	1	0	0	0	15868	1087	38	1	852	1	THOP1	19	2806990	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	398605	2806990	56321993	954	15471											
FZR1	51343	broad.mit.edu	37	chr19	3525878	3525878	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cccttcaggtcacagagatgCggcggaccctgacgcctgcc	7	6	12	16	3	2	2	2	1	0	1	2	4	2	3	4	3	2	0	4	3	0	1	rs150420576		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:3525878C>T	ENST00000395095.3	+	2	82	c.82C>T	c.(82-84)Cgg>Tgg	p.R28W	FZR1_ENST00000441788.2_Missense_Mutation_p.R28W|FZR1_ENST00000313639.8_Missense_Mutation_p.R28W	NM_001136198.1	NP_001129670.1	Q9UM11	FZR_HUMAN	fizzy/cell division cycle 20 related 1 (Drosophila)	28					activation of anaphase-promoting complex activity (GO:0051488)|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|DNA repair (GO:0006281)|G2 DNA damage checkpoint (GO:0031572)|lens fiber cell differentiation (GO:0070306)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of cell aging (GO:0090344)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of cell proliferation (GO:0008284)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of meiosis (GO:0040020)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	cytosol (GO:0005829)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				endometrium(1)|kidney(4)|liver(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(2)	13				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18)		CACAGAGATGCGGCGGACCCT	0.662																																						ENST00000441788.2																			0				endometrium(1)|kidney(4)|liver(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(2)	13						c.(82-84)Cgg>Tgg		fizzy/cell division cycle 20 related 1 (Drosophila)		C	TRP/ARG,TRP/ARG,TRP/ARG	1,4403	2.1+/-5.4	0,1,2201	35	36	36		82,82,82	2.2	1	19	dbSNP_134	36	0,8596		0,0,4298	no	missense,missense,missense	FZR1	NM_001136197.1,NM_001136198.1,NM_016263.3	101,101,101	0,1,6499	TT,TC,CC		0.0,0.0227,0.0077	possibly-damaging,possibly-damaging,possibly-damaging	28/405,28/497,28/494	3525878	1,12999	2202	4298	6500	SO:0001583	missense	51343				activation of anaphase-promoting complex activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|DNA repair|G2/M transition DNA damage checkpoint|mitosis|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of protein catabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle	cytosol|nucleoplasm	protein binding	g.chr19:3525878C>T	AF083810	CCDS12109.1, CCDS45916.1, CCDS45917.1	19p13.3	2013-01-10				ENSG00000105325		"WD repeat domain containing"	24824	protein-coding gene	gene with protein product		603619				9734353, 11003657	Standard	NM_016263		Approved	HCDH1, CDH1, HCDH, FZR, FZR2, KIAA1242, CDC20C	uc010dtk.2	Q9UM11		ENST00000395095.3:c.82C>T	19.37:g.3525878C>T	ENSP00000378529:p.Arg28Trp					FZR1_ENST00000395095.3_Missense_Mutation_p.R28W|FZR1_ENST00000313639.8_Missense_Mutation_p.R28W	p.R28W	NM_016263.3	NP_057347.2	Q9UM11	FZR_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18)	3	318	+			28					O75869|Q86U66|Q96NW8|Q9UI96|Q9ULH8|Q9UM10|Q9UNQ1|Q9Y2T8	Missense_Mutation	SNP	ENST00000395095.3	37	c.82C>T	CCDS45916.1	.	.	.	.	.	.	.	.	.	.	C	10.85	1.467430	0.26335	2.27E-4	0.0	ENSG00000105325	ENST00000441788;ENST00000395095;ENST00000313639	T;T;T	0.08720	3.06;3.06;3.06	4.42	2.15	0.27550	.	0.349521	0.27539	N	0.018906	T	0.07007	0.0178	L	0.29908	0.895	0.25315	N	0.989167	P;B;D	0.54207	0.738;0.0;0.965	B;B;B	0.42422	0.28;0.0;0.387	T	0.22173	-1.0224	10	0.66056	D	0.02	-47.6934	10.0615	0.42277	0.6172:0.3828:0.0:0.0	.	28;28;28	Q9UM11;Q9UM11-3;Q9UM11-2	FZR_HUMAN;.;.	W	28	ENSP00000410369:R28W;ENSP00000378529:R28W;ENSP00000321800:R28W	ENSP00000321800:R28W	R	+	1	2	FZR1	3476878	1.000000	0.71417	0.996000	0.52242	0.310000	0.27922	0.809000	0.27168	0.847000	0.35167	-0.268000	0.10319	CGG		0.662	FZR1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000452869.2	NM_016263		21	39	0	0	0	1	0	21	39					T	3525878	C	T	3525878	3	4	305	1	0	0	0	0	1	0	0	0	6138	759	27	1	88	1	FZR1	19	3525878	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	718888	3525878	55603105	955	15472											
FZR1	51343	broad.mit.edu	37	chr19	3532474	3532474	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagtacacggagcacctggcGgccgtgaaggccatcgcctg	8	5	14	14	4	0	1	0	1	0	0	1	2	0	2	4	4	2	2	4	4	2	1			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:3532474G>A	ENST00000395095.3	+	10	1068	c.1068G>A	c.(1066-1068)gcG>gcA	p.A356A	FZR1_ENST00000441788.2_Silent_p.A356A|FZR1_ENST00000313639.8_Silent_p.A267A	NM_001136198.1	NP_001129670.1	Q9UM11	FZR_HUMAN	fizzy/cell division cycle 20 related 1 (Drosophila)	356					activation of anaphase-promoting complex activity (GO:0051488)|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|DNA repair (GO:0006281)|G2 DNA damage checkpoint (GO:0031572)|lens fiber cell differentiation (GO:0070306)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of cell aging (GO:0090344)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of cell proliferation (GO:0008284)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of meiosis (GO:0040020)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	cytosol (GO:0005829)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				endometrium(1)|kidney(4)|liver(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(2)	13				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18)		AGCACCTGGCGGCCGTGAAGG	0.687																																						ENST00000441788.2																			0				endometrium(1)|kidney(4)|liver(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(2)	13						c.(1066-1068)gcG>gcA		fizzy/cell division cycle 20 related 1 (Drosophila)							25	28	27					19																	3532474		2198	4300	6498	SO:0001819	synonymous_variant	51343				activation of anaphase-promoting complex activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|DNA repair|G2/M transition DNA damage checkpoint|mitosis|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of protein catabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle	cytosol|nucleoplasm	protein binding	g.chr19:3532474G>A	AF083810	CCDS12109.1, CCDS45916.1, CCDS45917.1	19p13.3	2013-01-10				ENSG00000105325		"WD repeat domain containing"	24824	protein-coding gene	gene with protein product		603619				9734353, 11003657	Standard	NM_016263		Approved	HCDH1, CDH1, HCDH, FZR, FZR2, KIAA1242, CDC20C	uc010dtk.2	Q9UM11		ENST00000395095.3:c.1068G>A	19.37:g.3532474G>A						FZR1_ENST00000395095.3_Silent_p.A356A|FZR1_ENST00000313639.8_Silent_p.A267A	p.A356A	NM_016263.3	NP_057347.2	Q9UM11	FZR_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18)	11	1304	+			356					O75869|Q86U66|Q96NW8|Q9UI96|Q9ULH8|Q9UM10|Q9UNQ1|Q9Y2T8	Silent	SNP	ENST00000395095.3	37	c.1068G>A	CCDS45916.1																																																																																				0.687	FZR1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000452869.2	NM_016263		13	27	0	0	0	1	0	13	27					A	3532474	G	A	3532474	2	1	305	1	0	0	0	0	0	0	0	1	6138	1103	39	2		2	FZR1	19	3532474	Silent	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	6596	3532474	55596509	956	15473											
GIPC3	126326	broad.mit.edu	37	chr19	3589527	3589527	+	Frame_Shift_Del	DEL	G	G	-																															agaccctgcggcttcgttctGggggggctgccacagtggag																								rs202075236	byFrequency	TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:3589527delG	ENST00000322315.5	+	4	724	c.679delG	c.(679-681)gggfs	p.G228fs		NM_133261.2	NP_573568.1	Q8TF64	GIPC3_HUMAN	GIPC PDZ domain containing family, member 3	228										breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	10				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0025)|STAD - Stomach adenocarcinoma(1328;0.18)		GCTTCGTTCTGGGGGGGCTGC	0.607																																						ENST00000322315.5																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	10						c.(679-681)ggfs		GIPC PDZ domain containing family, member 3							35	41	39					19																	3589527		2203	4300	6503	SO:0001589	frameshift_variant	126326							g.chr19:3589527delG	AB073738	CCDS32871.1	19p13.3	2011-11-29				ENSG00000179855			18183	protein-coding gene	gene with protein product		608792	"chromosome 19 open reading frame 64", "deafness, autosomal recessive 72", "deafness, autosomal recessive 15"	C19orf64, DFNB72, DFNB15		11836571, 21326233	Standard	NM_133261		Approved	DFNB95	uc002lyd.4	Q8TF64		ENST00000322315.5:c.679delG	19.37:g.3589527delG	ENSP00000319254:p.Gly228fs						p.G228fs	NM_133261.2	NP_573568.1	Q8TF64	GIPC3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0025)|STAD - Stomach adenocarcinoma(1328;0.18)	4	724	+			228					O75227	Frame_Shift_Del	DEL	ENST00000322315.5	37	c.679delG	CCDS32871.1																																																																																				0.607	GIPC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394577.1	NM_133261		19	59						19	59	---	---	---	---	-	3589527	G	-	3589527	7	5	305	1	0	1	0	1	0	0	0	0	6394	1348	47	0	693	0	GIPC3	19	3589527	Frame_Shift_Del	DEL	G	TCGA-KK-A59V-01A-11D-A29Q-08	57053	3589527	55539456	957	15474											
MATK	4145	broad.mit.edu	37	chr19	3784848	3784848	+	Frame_Shift_Del	DEL	G	G	-																															gcatcctggctgagacgggaGgggggtgccaggctcggagg																								rs564635842		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:3784848delG	ENST00000310132.6	-	3	505	c.107delC	c.(106-108)cctfs	p.P37fs	MATK_ENST00000590821.1_5'Flank|MATK_ENST00000395045.2_Frame_Shift_Del_p.P38fs|MATK_ENST00000585778.1_Frame_Shift_Del_p.P37fs|MATK_ENST00000395040.2_5'UTR	NM_139355.2	NP_647612.1	P42679	MATK_HUMAN	megakaryocyte-associated tyrosine kinase	37					cell proliferation (GO:0008283)|mesoderm development (GO:0007498)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|protein phosphorylation (GO:0006468)	cytosol (GO:0005829)|membrane (GO:0016020)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(2)|stomach(2)|urinary_tract(1)	26		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)		TGAGACGGGAGGGGGGTGCCA	0.657																																						ENST00000310132.6																			0				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(2)|stomach(2)|urinary_tract(1)	26						c.(106-108)ctfs		megakaryocyte-associated tyrosine kinase							20	21	21					19																	3784848		2161	4226	6387	SO:0001589	frameshift_variant	4145				cell proliferation|mesoderm development|positive regulation of cell proliferation	cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity	g.chr19:3784848delG	L18974	CCDS12113.1, CCDS12114.1, CCDS42468.1	19p13.3	2013-02-14						"SH2 domain containing"	6906	protein-coding gene	gene with protein product	"Csk-homologous kinase", "tyrosine-protein kinase CTK", "protein kinase HYL", "hematopoietic consensus tyrosine-lacking kinase", "tyrosylprotein kinase", "hydroxyaryl-protein kinase", "Csk-type protein tyrosine kinase", "HYL tyrosine kinase", "tyrosine kinase MATK", "leukocyte carboxyl-terminal src kinase related"	600038				8288563, 7530249	Standard	NM_139355		Approved	HYLTK, CTK, HYL, Lsk, CHK, HHYLTK, DKFZp434N1212, MGC1708, MGC2101	uc002lyt.3	P42679		ENST00000310132.6:c.107delC	19.37:g.3784848delG	ENSP00000308734:p.Pro37fs					MATK_ENST00000395040.2_5'UTR|MATK_ENST00000395045.2_Frame_Shift_Del_p.P38fs|MATK_ENST00000585778.1_Frame_Shift_Del_p.P37fs	p.P37fs	NM_139355.2	NP_647612.1	P42679	MATK_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)	3	505	-		Hepatocellular(1079;0.137)	37					B3KNZ9|Q9NST8	Frame_Shift_Del	DEL	ENST00000310132.6	37	c.107delC	CCDS12114.1																																																																																				0.657	MATK-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000453639.1	NM_139355		2	4						2	4	---	---	---	---	-	3784848	G	-	3784848	7	5	305	1	0	1	0	1	0	0	0	0	9332	1000	35	0	1464	0	MATK	19	3784848	Frame_Shift_Del	DEL	G	TCGA-KK-A59V-01A-11D-A29Q-08	195321	3784848	55344135	958	15475											
FSD1	79187	broad.mit.edu	37	chr19	4310270	4310270	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tgttctgttcctctctctagGctgccaagcaaatcaaagat	10	13	7	11	0	4	1	1	0	3	1	6	1	5	1	2	1	2	4	2	1	4	3			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:4310270G>A	ENST00000221856.6	+	5	493	c.346G>A	c.(346-348)Gct>Act	p.A116T	FSD1_ENST00000598010.1_3'UTR|FSD1_ENST00000597590.1_Splice_Site_p.A116T	NM_024333.2	NP_077309.1	Q9BTV5	FSD1_HUMAN	fibronectin type III and SPRY domain containing 1	116	COS. {ECO:0000255|PROSITE- ProRule:PRU00586}.				mitotic nuclear division (GO:0007067)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)				breast(2)|cervix(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	21				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.034)|STAD - Stomach adenocarcinoma(1328;0.18)		CTCTCTCTAGGCTGCCAAGCA	0.527																																						ENST00000221856.6																			0				breast(2)|cervix(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	21						c.e5-1		fibronectin type III and SPRY domain containing 1							133	151	145					19																	4310270		2203	4300	6503	SO:0001630	splice_region_variant	79187				cell division|mitosis	cleavage furrow|microtubule|microtubule organizing center|nucleus		g.chr19:4310270G>A	AF316829	CCDS12127.1	19p13.3	2013-02-11	2005-03-01			ENSG00000105255		"Fibronectin type III domain containing"	13745	protein-coding gene	gene with protein product		609828	"fibronectin type 3 and SPRY domain containing 1"			11267680	Standard	NM_024333		Approved	MGC3213, MIR1	uc002lzy.2	Q9BTV5		ENST00000221856.6:c.346-1G>A	19.37:g.4310270G>A						FSD1_ENST00000598010.1_3'UTR|FSD1_ENST00000597590.1_Splice_Site_p.A116_splice	p.A116_splice	NM_024333.2	NP_077309.1	Q9BTV5	FSD1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.034)|STAD - Stomach adenocarcinoma(1328;0.18)	5	493	+			116			COS.		B2RDT0|Q9BXN0|Q9HAG4	Splice_Site	SNP	ENST00000221856.6	37	c.345_splice	CCDS12127.1	.	.	.	.	.	.	.	.	.	.	G	15.70	2.912400	0.52439	.	.	ENSG00000105255	ENST00000221856	T	0.44083	0.93	5.29	5.29	0.74685	B-box, C-terminal (1);COS domain (1);	0.000000	0.85682	D	0.000000	T	0.59878	0.2226	M	0.63843	1.955	0.58432	D	0.999998	D;P	0.55385	0.971;0.647	D;P	0.63283	0.913;0.501	T	0.57039	-0.7879	9	.	.	.	.	16.7733	0.85544	0.0:0.0:1.0:0.0	.	103;116	B4DIC5;Q9BTV5	.;FSD1_HUMAN	T	116	ENSP00000221856:A116T	.	A	+	1	0	FSD1	4261270	1.000000	0.71417	1.000000	0.80357	0.922000	0.55478	6.720000	0.74723	2.644000	0.89710	0.511000	0.50034	GCT		0.527	FSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458091.1	NM_024333	Missense_Mutation	25	293	0	0	0	1	0	25	293					A	4310270	G	A	4310270	5	1	305	1	0	0	0	0	0	0	1	0	6070	1217	42	3	364	3	FSD1	19	4310270	Splice_Site	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	525422	4310270	54818713	959	15476											
HDGFRP2	84717	broad.mit.edu	37	chr19	4496343	4496343	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagtcctcaagcacagagccCgccaggaaacctggccagaa	13	3	10	15	1	1	2	1	0	0	2	2	3	2	3	5	2	3	1	5	2	3	0			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:4496343C>T	ENST00000301284.4	+	10	1333	c.1269C>T	c.(1267-1269)ccC>ccT	p.P423P	HDGFRP2_ENST00000586684.1_Silent_p.P423P	NM_001001520.1|NM_032631.2	NP_001001520|NP_116020.1	Q7Z4V5	HDGR2_HUMAN		423					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)										GCACAGAGCCCGCCAGGAAAC	0.627																																						ENST00000301284.4																			0											c.(1267-1269)ccC>ccT									58	79	72					19																	4496343		2022	4178	6200	SO:0001819	synonymous_variant	0				transcription, DNA-dependent	nucleus	DNA binding|protein binding	g.chr19:4496343C>T																												ENST00000301284.4:c.1269C>T	19.37:g.4496343C>T						HDGFRP2_ENST00000586684.1_Silent_p.P423P	p.P423P	NM_001001520.1|NM_032631.2	NP_001001520.1|NP_116020.1	Q7Z4V5	HDGR2_HUMAN			10	1333	+			423					I3L080|K7EQZ6|Q96GI5|Q9BW08	Silent	SNP	ENST00000301284.4	37	c.1269C>T	CCDS42472.1																																																																																				0.627	HDGFRP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000458642.1			7	23	0	0	0	1	0	7	23					T	4496343	C	T	4496343	2	4	305	1	0	0	0	0	0	0	0	1	7020	639	23	2		2	HDGFRP2	19	4496343	Silent	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	186073	4496343	54632640	960	15477											
ARRDC5	645432	broad.mit.edu	37	chr19	4902802	4902802	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gccaggtagattctatcctcGggcagcactaattcgatcga	10	10	10	11	3	1	1	0	0	1	1	5	3	2	1	2	2	1	3	2	2	3	5	rs376349632		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:4902802G>A	ENST00000381781.2	-	1	77	c.78C>T	c.(76-78)ccC>ccT	p.P26P	UHRF1_ENST00000592666.1_RNA	NM_001080523.1	NP_001073992.1	A6NEK1	ARRD5_HUMAN	arrestin domain containing 5	26										endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	12				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0257)		TTCTATCCTCGGGCAGCACTA	0.552																																						ENST00000381781.2																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	12						c.(76-78)ccC>ccT		arrestin domain containing 5		G		1,3809		0,1,1904	88	83	85		78	3	0.6	19		85	0,8250		0,0,4125	no	coding-synonymous	ARRDC5	NM_001080523.1		0,1,6029	AA,AG,GG		0.0,0.0262,0.0083		26/343	4902802	1,12059	1905	4125	6030	SO:0001819	synonymous_variant	645432				signal transduction			g.chr19:4902802G>A		CCDS45929.1	19p13.3	2007-10-05				ENSG00000205784			31407	protein-coding gene	gene with protein product						12886014	Standard	NM_001080523		Approved		uc002mbm.3	A6NEK1		ENST00000381781.2:c.78C>T	19.37:g.4902802G>A							p.P26P	NM_001080523.1	NP_001073992.1	A6NEK1	ARRD5_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0257)	1	77	-			26						Silent	SNP	ENST00000381781.2	37	c.78C>T	CCDS45929.1																																																																																				0.552	ARRDC5-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450443.1	XM_292803		5	110	0	0	0	1	0	5	110					A	4902802	G	A	4902802	2	1	305	1	0	0	0	0	0	0	0	1	986	1103	39	2		2	ARRDC5	19	4902802	Silent	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	406459	4902802	54226181	961	15478											
UHRF1	29128	broad.mit.edu	37	chr19	4929359	4929359	+	RNA	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gactccgagctctccgacacCgactccggctgctgcctggg	5	7	12	17	4	1	0	0	0	1	0	4	4	3	0	5	2	3	3	5	2	0	0			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:4929359C>T	ENST00000592666.1	+	0	855							Q96T88	UHRF1_HUMAN	ubiquitin-like with PHD and ring finger domains 1						cell cycle (GO:0007049)|cell proliferation (GO:0008283)|DNA repair (GO:0006281)|histone monoubiquitination (GO:0010390)|histone ubiquitination (GO:0016574)|maintenance of DNA methylation (GO:0010216)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of DNA topoisomerase (ATP-hydrolyzing) activity (GO:2000373)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein autoubiquitination (GO:0051865)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|transcription, DNA-templated (GO:0006351)	euchromatin (GO:0000791)|heterochromatin (GO:0000792)|nuclear chromatin (GO:0000790)|nuclear heterochromatin (GO:0005720)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)|replication fork (GO:0005657)	core promoter proximal region sequence-specific DNA binding (GO:0000987)|hemi-methylated DNA-binding (GO:0044729)|histone binding (GO:0042393)|identical protein binding (GO:0042802)|ligase activity (GO:0016874)|methyl-CpG binding (GO:0008327)|methylated histone binding (GO:0035064)|nucleosomal histone binding (GO:0031493)|sequence-specific DNA binding transcription factor activity (GO:0003700)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|upper_aerodigestive_tract(2)	16				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0276)		TCTCCGACACCGACTCCGGCT	0.657																																						ENST00000592666.1																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|upper_aerodigestive_tract(2)	16								ubiquitin-like with PHD and ring finger domains 1							39	45	43					19																	4929359		2189	4286	6475			29128				cell cycle|cell proliferation|DNA repair|regulation of transcription from RNA polymerase II promoter	nucleus	acid-amino acid ligase activity|methyl-CpG binding|methylated histone residue binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:4929359C>T	AF129507	CCDS74262.1, CCDS74263.1	19p13.3	2012-04-20	2008-08-14		ENSG00000034063	ENSG00000276043		"RING-type (C3HC4) zinc fingers"	12556	protein-coding gene	gene with protein product		607990				10646863	Standard	NM_001048201		Approved	ICBP90, Np95, FLJ21925, RNF106	uc002mbo.3	Q96T88			19.37:g.4929359C>T										Q96T88	UHRF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0276)	0	855	+								A0JBR2|A8K024|B2RBA9|Q2HIX7|Q8J022|Q9H6S6|Q9P115|Q9P1U7	RNA	SNP	ENST00000592666.1	37																																																																																						0.657	UHRF1-006	KNOWN	sequence_error|basic	processed_transcript	processed_transcript	OTTHUMT00000450444.1	NM_001048201		15	36	0	0	0	1	0	15	36					T	4929359	C	T	4929359	1	4	305	0	1	0	0	0	0	0	0	0	16964	639	23	2		2	UHRF1	19	4929359	RNA	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	26557	4929359	54199624	962	15479											
PTPRS	5802	broad.mit.edu	37	chr19	5245857	5245857	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gccacgcaggtgtagttggcCgagtccttgacatctgtgag	7	10	14	10	2	1	2	0	2	1	0	2	3	2	2	3	2	0	3	3	2	1	3			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:5245857C>T	ENST00000587303.1	-	9	1017	c.918G>A	c.(916-918)tcG>tcA	p.S306S	PTPRS_ENST00000357368.4_Silent_p.S306S|PTPRS_ENST00000592099.1_Silent_p.S293S|PTPRS_ENST00000372412.4_Silent_p.S307S|PTPRS_ENST00000262963.6_Silent_p.S302S|PTPRS_ENST00000348075.2_Silent_p.S293S|PTPRS_ENST00000353284.2_Silent_p.S293S|PTPRS_ENST00000588552.1_5'UTR|PTPRS_ENST00000588012.1_Silent_p.S293S			Q13332	PTPRS_HUMAN	protein tyrosine phosphatase, receptor type, S	306	Ig-like C2-type 3.				cell adhesion (GO:0007155)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|corpus callosum development (GO:0022038)|extracellular matrix organization (GO:0030198)|hippocampus development (GO:0021766)|peptidyl-tyrosine dephosphorylation (GO:0035335)|spinal cord development (GO:0021510)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)	61				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)	Alendronate(DB00630)|Etidronic acid(DB01077)	TGTAGTTGGCCGAGTCCTTGA	0.617																																						ENST00000372412.4																			0				NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)	61						c.(919-921)tcG>tcA		protein tyrosine phosphatase, receptor type, S							87	71	76					19																	5245857		2203	4300	6503	SO:0001819	synonymous_variant	5802				cell adhesion	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr19:5245857C>T	U35234	CCDS12139.1, CCDS12140.1, CCDS45930.1, CCDS74265.1	19p13.3	2013-02-11				ENSG00000105426		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	9681	protein-coding gene	gene with protein product		601576				8954782, 8524829	Standard	NM_002850		Approved		uc002mbv.3	Q13332		ENST00000587303.1:c.918G>A	19.37:g.5245857C>T						PTPRS_ENST00000592099.1_Silent_p.S293S|PTPRS_ENST00000588552.1_5'UTR|PTPRS_ENST00000587303.1_Silent_p.S306S|PTPRS_ENST00000357368.4_Silent_p.S306S|PTPRS_ENST00000353284.2_Silent_p.S293S|PTPRS_ENST00000348075.2_Silent_p.S293S|PTPRS_ENST00000262963.6_Silent_p.S302S|PTPRS_ENST00000588012.1_Silent_p.S293S	p.S307S			Q13332	PTPRS_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)	10	1154	-			306			Ig-like C2-type 3.		O75255|O75870|Q15718|Q16341|Q2M3R7	Silent	SNP	ENST00000587303.1	37	c.921G>A	CCDS45930.1																																																																																				0.617	PTPRS-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000450762.2			7	27	0	0	0	1	0	7	27					T	5245857	C	T	5245857	2	4	305	1	0	0	0	0	0	0	0	1	12811	639	23	2		2	PTPRS	19	5245857	Silent	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	316498	5245857	53883126	963	15480											
DENND1C	79958	broad.mit.edu	37	chr19	6467555	6467555	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	taagatcagcgactctgggcCggctgctgggctgggacttt	6	10	15	10	2	2	1	1	0	1	1	2	3	2	2	1	4	2	3	1	4	1	2	rs372522125		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:6467555C>T	ENST00000381480.2	-	23	2478	c.2366G>A	c.(2365-2367)cGg>cAg	p.R789Q	DENND1C_ENST00000543576.1_Missense_Mutation_p.R745Q	NM_024898.2	NP_079174.2	Q8IV53	DEN1C_HUMAN	DENN/MADD domain containing 1C	789					positive regulation of Rab GTPase activity (GO:0032851)	cytoplasmic vesicle (GO:0031410)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			endometrium(3)|kidney(3)|large_intestine(1)|lung(3)	10						GACTCTGGGCCGGCTGCTGGG	0.572																																						ENST00000381480.2																			0				endometrium(3)|kidney(3)|large_intestine(1)|lung(3)	10						c.(2365-2367)cGg>cAg		DENN/MADD domain containing 1C		C	GLN/ARG	0,3762		0,0,1881	48	50	50		2366	-3	0	19		50	1,8235		0,1,4117	no	missense	DENND1C	NM_024898.2	43	0,1,5998	TT,TC,CC		0.0121,0.0,0.0083	benign	789/802	6467555	1,11997	1881	4118	5999	SO:0001583	missense	79958					clathrin-coated vesicle|cytosol	guanyl-nucleotide exchange factor activity	g.chr19:6467555C>T	AL713770	CCDS45938.1	19p13.3	2014-02-06	2005-08-17	2005-08-17	ENSG00000205744	ENSG00000205744		"DENN/MADD domain containing"	26225	protein-coding gene	gene with protein product		613634	"family with sequence similarity 31, member C"	FAM31C		12477932	Standard	XM_005259646		Approved	FLJ22757	uc002mfe.3	Q8IV53	OTTHUMG00000180853	ENST00000381480.2:c.2366G>A	19.37:g.6467555C>T	ENSP00000370889:p.Arg789Gln					DENND1C_ENST00000543576.1_Missense_Mutation_p.R745Q	p.R789Q	NM_024898.2	NP_079174.2	Q8IV53	DEN1C_HUMAN			23	2478	-			789					B4E051|D3PFD4|Q8NDB1|Q9H5Z2	Missense_Mutation	SNP	ENST00000381480.2	37	c.2366G>A	CCDS45938.1	.	.	.	.	.	.	.	.	.	.	C	3.352	-0.132285	0.06753	0.0	1.21E-4	ENSG00000205744	ENST00000381480;ENST00000543576	T;T	0.11604	2.93;2.76	5.06	-3.0	0.05480	.	1.396020	0.05495	N	0.557407	T	0.04318	0.0119	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.41662	-0.9496	10	0.07325	T	0.83	-2.6155	6.097	0.20025	0.147:0.1564:0.0:0.6966	.	789	Q8IV53	DEN1C_HUMAN	Q	789;745	ENSP00000370889:R789Q;ENSP00000437805:R745Q	ENSP00000370889:R789Q	R	-	2	0	DENND1C	6418555	0.000000	0.05858	0.036000	0.18154	0.233000	0.25261	-1.159000	0.03150	-0.398000	0.07679	0.306000	0.20318	CGG		0.572	DENND1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453332.2	NM_024898		19	51	0	0	0	1	0	19	51					T	6467555	C	T	6467555	3	4	305	1	0	0	0	0	1	0	0	0	4428	652	23	2	43	2	DENND1C	19	6467555	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	1221698	6467555	52661428	964	15481											
ARHGEF18	23370	broad.mit.edu	37	chr19	7509124	7509124	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaggtgcaccacgtgcggacGctcaagatcatgctgaaggt	10	7	14	10	3	2	2	2	1	0	1	2	4	2	3	1	3	3	3	1	3	2	0			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:7509124G>A	ENST00000359920.6	+	4	1084	c.831G>A	c.(829-831)acG>acA	p.T277T	ARHGEF18_ENST00000319670.9_Silent_p.T119T|CTD-2207O23.3_ENST00000593531.1_Missense_Mutation_p.R235H	NM_001130955.1	NP_001124427.1	Q6ZSZ5	ARHGI_HUMAN	Rho/Rac guanine nucleotide exchange factor (GEF) 18	277	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|transforming growth factor beta receptor signaling pathway (GO:0007179)	apical part of cell (GO:0045177)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(4)|ovary(2)|prostate(2)|stomach(1)|urinary_tract(1)	23		Renal(5;0.0902)				ACGTGCGGACGCTCAAGATCA	0.637																																						ENST00000593531.1																			0											c.(703-705)cGc>cAc									62	52	55					19																	7509124		2203	4300	6503	SO:0001819	synonymous_variant	0							g.chr19:7509124G>A	AK074372	CCDS12177.1, CCDS45946.1	19p13.3	2013-01-10	2009-06-12			ENSG00000104880		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	17090	protein-coding gene	gene with protein product	"Rho-specific guanine nucleotide exchange factor p114"		"rho/rac guanine nucleotide exchange factor (GEF) 18"			9628581, 11318610	Standard	NM_015318		Approved	P114-RhoGEF, KIAA0521, MGC15913	uc002mgi.3	Q6ZSZ5		ENST00000359920.6:c.831G>A	19.37:g.7509124G>A						ARHGEF18_ENST00000319670.9_Silent_p.T119T|ARHGEF18_ENST00000359920.6_Silent_p.T277T	p.R235H							7	704	+								A8MV62|B5ME81|O60274|Q6DD92	Missense_Mutation	SNP	ENST00000359920.6	37	c.704G>A	CCDS45946.1																																																																																				0.637	ARHGEF18-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000436340.1	NM_015318		25	39	0	0	0	1	0	25	39					A	7509124	G	A	7509124	2	1	305	1	0	0	0	0	0	0	0	1	901	1074	38	1		1	ARHGEF18	19	7509124	Silent	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	1041569	7509124	51619859	965	15482											
KIAA1543	57662	broad.mit.edu	37	chr19	7677626	7677626	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgggtcatccctggccccacGacggggcccaaagctgcatc	7	6	12	16	2	1	0	1	0	0	0	3	1	2	0	4	4	2	2	4	4	1	0	rs555103286		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:7677626G>A	ENST00000160298.4	+	11	2348	c.2247G>A	c.(2245-2247)acG>acA	p.T749T	CAMSAP3_ENST00000446248.2_Silent_p.T776T	NM_020902.1	NP_065953.1	Q9P1Y5	CAMP3_HUMAN	calmodulin regulated spectrin-associated protein family, member 3	749	Pro-rich.				epithelial cell-cell adhesion (GO:0090136)|microtubule anchoring (GO:0034453)|microtubule cytoskeleton organization (GO:0000226)|negative regulation of phosphatase activity (GO:0010923)|regulation of microtubule cytoskeleton organization (GO:0070507)|regulation of organelle organization (GO:0033043)|zonula adherens maintenance (GO:0045218)	cytoplasm (GO:0005737)|microtubule minus-end (GO:0036449)|zonula adherens (GO:0005915)	microtubule minus-end binding (GO:0051011)			cervix(1)|endometrium(7)|kidney(3)|lung(6)|urinary_tract(2)	19						CTGGCCCCACGACGGGGCCCA	0.766																																						ENST00000446248.2																			0				cervix(1)|endometrium(7)|kidney(3)|lung(6)|urinary_tract(2)	19						c.(2326-2328)acG>acA		calmodulin regulated spectrin-associated protein family, member 3							2	2	2					19																	7677626		1211	2901	4112	SO:0001819	synonymous_variant	57662				epithelial cell-cell adhesion|microtubule anchoring|regulation of microtubule cytoskeleton organization|zonula adherens maintenance	cytoplasm|microtubule|zonula adherens	microtubule minus-end binding	g.chr19:7677626G>A	AB040976	CCDS42489.1, CCDS45947.1	19p13.3-p13.2	2014-06-12	2011-08-18	2011-08-18		ENSG00000076826			29307	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 80"	612685	"KIAA1543"	KIAA1543		11318610, 10819331, 19041755, 19508979	Standard	NM_001080429		Approved	Nezha, PPP1R80	uc002mgu.4	Q9P1Y5		ENST00000160298.4:c.2247G>A	19.37:g.7677626G>A						CAMSAP3_ENST00000160298.4_Silent_p.T749T	p.T776T	NM_001080429.2	NP_001073898.1	Q9P1Y5	CAMP3_HUMAN			13	2429	+			749			Pro-rich.		Q8NDF1	Silent	SNP	ENST00000160298.4	37	c.2328G>A	CCDS42489.1																																																																																				0.766	CAMSAP3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000459300.1	XM_048362		5	5	0	0	0	1	0	5	5					A	7677626	G	A	7677626	2	1	305	1	0	0	0	0	0	0	0	1	8243	1045	37	2		2	KIAA1543	19	7677626	Silent	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	168502	7677626	51451357	966	15483											
EVI5L	115704	broad.mit.edu	37	chr19	7928473	7928473	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcattgtatcctctgtcccCgcgcgatgcgcgcttcttcc	3	12	9	17	6	2	0	0	0	2	0	5	1	5	0	4	0	1	3	4	0	1	4			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:7928473C>T	ENST00000270530.4	+	19	2466	c.2270C>T	c.(2269-2271)cCg>cTg	p.P757L	EVI5L_ENST00000538904.2_Missense_Mutation_p.P768L	NM_145245.3	NP_660288.1	Q96CN4	EVI5L_HUMAN	ecotropic viral integration site 5-like	757					negative regulation of cilium assembly (GO:1902018)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of Rab GTPase activity (GO:0032851)		Rab GTPase activator activity (GO:0005097)|Rab GTPase binding (GO:0017137)			breast(1)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	12						CCTCTGTCCCCGCGCGATGCG	0.697																																						ENST00000270530.4																			0				breast(1)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	12						c.(2269-2271)cCg>cTg		ecotropic viral integration site 5-like							21	16	17					19																	7928473		2185	4279	6464	SO:0001583	missense	115704					intracellular	protein binding|Rab GTPase activator activity	g.chr19:7928473C>T	BC014111	CCDS12188.1, CCDS54209.1	19p13	2013-07-09				ENSG00000142459			30464	protein-coding gene	gene with protein product						23669355	Standard	NM_001159944		Approved		uc010xjz.2	Q96CN4		ENST00000270530.4:c.2270C>T	19.37:g.7928473C>T	ENSP00000270530:p.Pro757Leu					EVI5L_ENST00000538904.2_Missense_Mutation_p.P768L	p.P757L	NM_145245.3	NP_660288.1	Q96CN4	EVI5L_HUMAN			19	2466	+			757					B9A6I9	Missense_Mutation	SNP	ENST00000270530.4	37	c.2270C>T	CCDS12188.1	.	.	.	.	.	.	.	.	.	.	C	14.01	2.408518	0.42715	.	.	ENSG00000142459	ENST00000270530;ENST00000538904	T;T	0.05382	3.45;3.45	4.37	4.37	0.52481	.	0.084417	0.47455	D	0.000222	T	0.10937	0.0267	N	0.14661	0.345	0.58432	D	0.999999	P;D	0.89917	0.491;1.0	B;D	0.81914	0.041;0.995	T	0.45600	-0.9250	10	0.22109	T	0.4	-68.4257	14.4303	0.67246	0.0:1.0:0.0:0.0	.	768;757	B9A6I9;Q96CN4	.;EVI5L_HUMAN	L	757;768	ENSP00000270530:P757L;ENSP00000445905:P768L	ENSP00000270530:P757L	P	+	2	0	EVI5L	7834473	0.845000	0.29573	0.999000	0.59377	0.073000	0.16967	4.372000	0.59530	2.271000	0.75665	0.491000	0.48974	CCG		0.697	EVI5L-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000461347.1	NM_145245		6	2	0	0	0	1	0	6	2					T	7928473	C	T	7928473	3	4	305	1	0	0	0	0	1	0	0	0	5290	652	23	2	2377	2	EVI5L	19	7928473	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	250847	7928473	51200510	967	15484											
MAP2K7	5609	broad.mit.edu	37	chr19	7976149	7976149	+	Frame_Shift_Del	DEL	C	C	-																															ctgcagcccgagcgcattgaCcccccagaccccaccaagcc																								rs546802383		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:7976149delC	ENST00000397979.3	+	8	924	c.870delC	c.(868-870)gacfs	p.D290fs	CTD-3193O13.13_ENST00000595655.1_RNA|MAP2K7_ENST00000545011.1_Frame_Shift_Del_p.D332fs|MAP2K7_ENST00000397981.3_Frame_Shift_Del_p.D290fs|MAP2K7_ENST00000397983.3_Frame_Shift_Del_p.D306fs	NM_145185.2	NP_660186.1	O14733	MP2K7_HUMAN	mitogen-activated protein kinase kinase 7	290	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of JUN kinase activity (GO:0007257)|apoptotic process (GO:0006915)|cellular response to sorbitol (GO:0072709)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|positive regulation of neuron apoptotic process (GO:0043525)|response to heat (GO:0009408)|response to osmotic stress (GO:0006970)|response to tumor necrosis factor (GO:0034612)|response to UV (GO:0009411)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|JUN kinase kinase activity (GO:0008545)|magnesium ion binding (GO:0000287)|MAP kinase kinase activity (GO:0004708)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)	p.D290D(1)		breast(2)|central_nervous_system(3)|endometrium(1)|large_intestine(8)|lung(4)|ovary(1)	19						AGCGCATTGACCCCCCAGACC	0.706																																						ENST00000545011.1																			1	Substitution - coding silent(1)	p.D290D(1)	ovary(1)	breast(2)|central_nervous_system(3)|endometrium(1)|large_intestine(8)|lung(4)|ovary(1)	19						c.(994-996)gafs		mitogen-activated protein kinase kinase 7	Etoposide(DB00773)						33	39	37					19																	7976149		1873	4089	5962	SO:0001589	frameshift_variant	5609				activation of JUN kinase activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleus	ATP binding|JUN kinase kinase activity|magnesium ion binding|protein binding|protein kinase binding|protein phosphatase binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr19:7976149delC	AF006689	CCDS42491.1, CCDS74277.1, CCDS74278.1	19p13.3-p13.2	2011-06-09			ENSG00000076984	ENSG00000076984	2.7.12.2	"Mitogen-activated protein kinase cascade / Kinase kinases"	6847	protein-coding gene	gene with protein product		603014		PRKMK7		9312068	Standard	XM_005272489		Approved	MKK7, Jnkk2	uc002mit.3	O14733	OTTHUMG00000137368	ENST00000397979.3:c.870delC	19.37:g.7976149delC	ENSP00000381066:p.Asp290fs					MAP2K7_ENST00000397983.3_Frame_Shift_Del_p.D306fs|MAP2K7_ENST00000397979.3_Frame_Shift_Del_p.D290fs|MAP2K7_ENST00000397981.3_Frame_Shift_Del_p.D290fs	p.D332fs			O14733	MP2K7_HUMAN			8	1061	+			290			Protein kinase.		B2R9S5|D6W659|O14648|O14816|O60452|O60453|Q1PG43|Q8IY10	Frame_Shift_Del	DEL	ENST00000397979.3	37	c.996delC	CCDS42491.1																																																																																				0.706	MAP2K7-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000267980.1			12	75						12	75	---	---	---	---	-	7976149	C	-	7976149	7	5	305	1	0	1	0	1	0	0	0	0	9242	506	18	0	900	0	MAP2K7	19	7976149	Frame_Shift_Del	DEL	C	TCGA-KK-A59V-01A-11D-A29Q-08	47676	7976149	51152834	968	15485											
OLFM2	93145	broad.mit.edu	37	chr19	9964954	9964954	+	Frame_Shift_Del	DEL	G	G	-																															ggtatagagggcgcgctcccGggggttgtaatccagcatcg																										TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:9964954delG	ENST00000264833.4	-	6	1458	c.1273delC	c.(1273-1275)cggfs	p.R425fs	OLFM2_ENST00000590841.1_Frame_Shift_Del_p.R347fs|AC008752.3_ENST00000582439.1_RNA	NM_058164.2	NP_477512.1	O95897	NOE2_HUMAN	olfactomedin 2	425	Olfactomedin-like. {ECO:0000255|PROSITE- ProRule:PRU00446}.				protein secretion (GO:0009306)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|extracellular region (GO:0005576)|synapse (GO:0045202)				breast(1)|cervix(1)|endometrium(3)|large_intestine(8)|lung(9)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	31						GCGCGCTCCCGGGGGTTGTAA	0.557																																						ENST00000264833.4																			0				breast(1)|cervix(1)|endometrium(3)|large_intestine(8)|lung(9)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	31						c.(1273-1275)ggfs		olfactomedin 2							100	90	93					19																	9964954		2203	4300	6503	SO:0001589	frameshift_variant	93145					extracellular region		g.chr19:9964954delG	AF131839	CCDS12221.1	19p13.2	2008-07-03				ENSG00000105088			17189	protein-coding gene	gene with protein product	"noelin 2"						Standard	NM_058164		Approved	OlfC, NOE2	uc002mmp.3	O95897		ENST00000264833.4:c.1273delC	19.37:g.9964954delG	ENSP00000264833:p.Arg425fs					OLFM2_ENST00000590841.1_Frame_Shift_Del_p.R347fs	p.R425fs	NM_058164.2	NP_477512.1	O95897	NOE2_HUMAN			6	1458	-			425			Olfactomedin-like.		Q6IMJ3|Q96FC2	Frame_Shift_Del	DEL	ENST00000264833.4	37	c.1273delC	CCDS12221.1																																																																																				0.557	OLFM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451119.1			30	100						30	100	---	---	---	---	-	9964954	G	-	9964954	7	5	305	1	0	1	0	1	0	0	0	0	10853	1115	39	0	95	0	OLFM2	19	9964954	Frame_Shift_Del	DEL	G	TCGA-KK-A59V-01A-11D-A29Q-08	1988805	9964954	49164029	969	15486											
PDE4A	5141	broad.mit.edu	37	chr19	10570423	10570423	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acccacgtactgctggccacGcctgcactagatgtgagtga	9	8	11	13	2	0	3	0	2	0	1	0	3	0	3	3	1	3	3	3	1	2	2			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:10570423G>A	ENST00000352831.6	+	10	1463	c.1353G>A	c.(1351-1353)acG>acA	p.T451T	PDE4A_ENST00000293683.5_Silent_p.T425T|PDE4A_ENST00000440014.2_Silent_p.T390T|PDE4A_ENST00000592685.1_Silent_p.T429T|PDE4A_ENST00000380702.2_Silent_p.T429T|PDE4A_ENST00000344979.3_Silent_p.T212T	NM_001111307.1	NP_001104777.1	P27815	PDE4A_HUMAN	phosphodiesterase 4A, cAMP-specific	451	Catalytic.				cAMP catabolic process (GO:0006198)|cellular response to drug (GO:0035690)|regulation of cAMP-mediated signaling (GO:0043949)|regulation of protein kinase A signaling (GO:0010738)|sensory perception of smell (GO:0007608)|signal transduction (GO:0007165)	cell projection (GO:0042995)|cytosol (GO:0005829)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|cAMP binding (GO:0030552)|metal ion binding (GO:0046872)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	27			OV - Ovarian serous cystadenocarcinoma(20;5.8e-10)|Epithelial(33;7.58e-07)|all cancers(31;3.91e-06)		Caffeine(DB00201)|Dipyridamole(DB00975)|Drotaverine(DB06751)|Dyphylline(DB00651)|Enprofylline(DB00824)|Ibudilast(DB05266)|Iloprost(DB01088)|Ketotifen(DB00920)|Oxtriphylline(DB01303)|Pentoxifylline(DB00806)|Roflumilast(DB01656)|Theophylline(DB00277)|Tofisopam(DB08811)	TGCTGGCCACGCCTGCACTAG	0.587																																						ENST00000380702.2																			0				NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	27						c.(1285-1287)acG>acA		phosphodiesterase 4A, cAMP-specific	Cilostazol(DB01166)|Dipyridamole(DB00975)|Dyphylline(DB00651)|Enprofylline(DB00824)|Iloprost(DB01088)|Milrinone(DB00235)|Pentoxifylline(DB00806)|Phentolamine(DB00692)|Tadalafil(DB00820)|Theophylline(DB00277)						74	58	64					19																	10570423		2203	4300	6503	SO:0001819	synonymous_variant	5141				signal transduction	cytosol|membrane fraction|perinuclear region of cytoplasm|ruffle membrane|soluble fraction	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|protein binding	g.chr19:10570423G>A		CCDS12238.1, CCDS45961.1, CCDS45962.1, CCDS45963.1, CCDS58649.1	19p13.2	2010-06-24	2010-06-24			ENSG00000065989	3.1.4.17	"Phosphodiesterases"	8780	protein-coding gene	gene with protein product	"phosphodiesterase E2 dunce homolog (Drosophila)"	600126	"phosphodiesterase 4A, cAMP-specific (dunce (Drosophila)-homolog phosphodiesterase E2)"	DPDE2		8009369	Standard	NM_006202		Approved		uc002moj.2	P27815		ENST00000352831.6:c.1353G>A	19.37:g.10570423G>A						PDE4A_ENST00000352831.6_Silent_p.T451T|PDE4A_ENST00000440014.2_Silent_p.T390T|PDE4A_ENST00000293683.5_Silent_p.T425T|PDE4A_ENST00000592685.1_Silent_p.T429T|PDE4A_ENST00000344979.3_Silent_p.T212T	p.T429T			P27815	PDE4A_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;5.8e-10)|Epithelial(33;7.58e-07)|all cancers(31;3.91e-06)		11	1287	+			451			Catalytic.		O75522|O76092|Q16255|Q16691|Q5DM53|Q6PMT2|Q8IVA7|Q8WUQ3|Q9H3H2	Silent	SNP	ENST00000352831.6	37	c.1287G>A	CCDS45961.1																																																																																				0.587	PDE4A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000451244.1			13	36	0	0	0	1	0	13	36					A	10570423	G	A	10570423	2	1	305	1	0	0	0	0	0	0	0	1	11639	1074	38	1		1	PDE4A	19	10570423	Silent	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	605469	10570423	48558560	970	15487											
KEAP1	9817	broad.mit.edu	37	chr19	10597450	10597450	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccaggtgtctgtatctgggtCgtaacactccacactgtcca	8	11	9	13	1	2	0	0	0	2	0	5	0	4	0	3	2	1	2	3	2	2	2	rs200652594		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:10597450C>T	ENST00000171111.5	-	6	2300	c.1753G>A	c.(1753-1755)Gac>Aac	p.D585N	KEAP1_ENST00000393623.2_Missense_Mutation_p.D585N	NM_203500.1	NP_987096.1	Q14145	KEAP1_HUMAN	kelch-like ECH-associated protein 1	585					cellular response to interleukin-4 (GO:0071353)|in utero embryonic development (GO:0001701)|proteasomal ubiquitin-independent protein catabolic process (GO:0010499)|protein ubiquitination (GO:0016567)|regulation of epidermal cell differentiation (GO:0045604)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|microtubule organizing center (GO:0005815)|midbody (GO:0030496)|nucleus (GO:0005634)				breast(3)|endometrium(2)|kidney(4)|large_intestine(4)|liver(2)|lung(69)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	92			OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05)		Dimethyl fumarate(DB08908)	GTATCTGGGTCGTAACACTCC	0.592													C|||	1	0.000199681	8e-04	0	5008	,	,		15420	0		0	False		,,,				2504	0					ENST00000171111.5																			0				breast(3)|endometrium(2)|kidney(4)|large_intestine(4)|liver(2)|lung(69)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	92						c.(1753-1755)Gac>Aac		kelch-like ECH-associated protein 1							110	96	101					19																	10597450		2203	4300	6503	SO:0001583	missense	9817				regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|midbody|nucleus	protein binding	g.chr19:10597450C>T	AF361886	CCDS12239.1	19p13.2	2013-01-30				ENSG00000079999		"Kelch-like", "BTB/POZ domain containing"	23177	protein-coding gene	gene with protein product	"kelch-like family member 19"	606016					Standard	NM_012289		Approved	KIAA0132, MGC10630, MGC1114, MGC20887, MGC4407, MGC9454, INrf2, KLHL19	uc002mor.1	Q14145		ENST00000171111.5:c.1753G>A	19.37:g.10597450C>T	ENSP00000171111:p.Asp585Asn					KEAP1_ENST00000393623.2_Missense_Mutation_p.D585N	p.D585N	NM_203500.1	NP_987096.1	Q14145	KEAP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05)		6	2300	-			585					B3KPD5|Q6LEP0|Q8WTX1|Q9BPY9	Missense_Mutation	SNP	ENST00000171111.5	37	c.1753G>A	CCDS12239.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	13.31	2.197801	0.38806	.	.	ENSG00000079999	ENST00000171111;ENST00000393623	D;D	0.86769	-2.17;-2.17	5.9	5.9	0.94986	Kelch-type beta propeller (1);	0.141910	0.64402	D	0.000005	T	0.82195	0.4984	L	0.52206	1.635	0.54753	D	0.999985	B	0.26445	0.149	B	0.22152	0.038	T	0.76302	-0.3009	10	0.27082	T	0.32	.	11.132	0.48351	0.0:0.917:0.0:0.083	.	585	Q14145	KEAP1_HUMAN	N	585	ENSP00000171111:D585N;ENSP00000377245:D585N	ENSP00000171111:D585N	D	-	1	0	KEAP1	10458450	0.999000	0.42202	0.996000	0.52242	0.163000	0.22366	4.234000	0.58658	2.811000	0.96726	0.555000	0.69702	GAC		0.592	KEAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452000.1	NM_012289		37	99	0	0	0	1	0	37	99					T	10597450	C	T	10597450	3	4	305	1	0	0	0	0	1	0	0	0	8141	884	31	2	125	2	KEAP1	19	10597450	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	27027	10597450	48531533	971	15488											
AP1M2	10053	broad.mit.edu	37	chr19	10690405	10690405	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctcacctgggtgctgaggCggtatgacatgagctcaaag	9	8	14	10	1	2	3	2	3	0	0	2	3	2	3	2	3	2	3	2	3	2	1			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:10690405C>T	ENST00000250244.6	-	7	885	c.803G>A	c.(802-804)cGc>cAc	p.R268H	AP1M2_ENST00000590923.1_Missense_Mutation_p.R270H	NM_005498.4	NP_005489.2	Q9Y6Q5	AP1M2_HUMAN	adaptor-related protein complex 1, mu 2 subunit	268	MHD. {ECO:0000255|PROSITE- ProRule:PRU00404}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)|protein targeting (GO:0006605)|regulation of defense response to virus by virus (GO:0050690)|vesicle targeting (GO:0006903)|viral process (GO:0016032)	clathrin adaptor complex (GO:0030131)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|Golgi membrane (GO:0000139)|lysosomal membrane (GO:0005765)|trans-Golgi network membrane (GO:0032588)				endometrium(4)|large_intestine(1)|lung(1)|ovary(2)|urinary_tract(1)	9			Epithelial(33;1.58e-05)|all cancers(31;6.36e-05)			GGTGCTGAGGCGGTATGACAT	0.607																																						ENST00000590923.1																			0				endometrium(4)|large_intestine(1)|lung(1)|ovary(2)|urinary_tract(1)	9						c.(808-810)cGc>cAc		adaptor-related protein complex 1, mu 2 subunit							117	120	119					19																	10690405		2147	4276	6423	SO:0001583	missense	10053				cellular membrane organization|post-Golgi vesicle-mediated transport|protein targeting|regulation of defense response to virus by virus|vesicle targeting|viral reproduction	clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane	protein binding	g.chr19:10690405C>T	AF020797	CCDS45964.1	19p13.2	2008-10-07				ENSG00000129354			558	protein-coding gene	gene with protein product		607309				10338135	Standard	NM_005498		Approved	HSMU1B, mu2, AP1-mu2	uc002mpc.3	Q9Y6Q5		ENST00000250244.6:c.803G>A	19.37:g.10690405C>T	ENSP00000250244:p.Arg268His					AP1M2_ENST00000250244.6_Missense_Mutation_p.R268H	p.R270H			Q9Y6Q5	AP1M2_HUMAN	Epithelial(33;1.58e-05)|all cancers(31;6.36e-05)		7	892	-			268			MHD.		B2RDV5|Q9BSI8	Missense_Mutation	SNP	ENST00000250244.6	37	c.809G>A	CCDS45964.1	.	.	.	.	.	.	.	.	.	.	c	15.08	2.728203	0.48833	.	.	ENSG00000129354	ENST00000250244	T	0.24908	1.83	5.12	2.97	0.34412	Clathrin adaptor, mu subunit, C-terminal (3);	0.117651	0.56097	D	0.000027	T	0.48169	0.1485	M	0.79805	2.47	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79108	0.992;0.982	T	0.45483	-0.9258	10	0.87932	D	0	-30.2514	8.1802	0.31307	0.1565:0.7595:0.0:0.084	.	270;268	Q9Y6Q5-2;Q9Y6Q5	.;AP1M2_HUMAN	H	268	ENSP00000250244:R268H	ENSP00000250244:R268H	R	-	2	0	AP1M2	10551405	1.000000	0.71417	0.997000	0.53966	0.006000	0.05464	7.678000	0.84035	0.567000	0.29293	-0.320000	0.08662	CGC		0.607	AP1M2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000452034.1			33	92	0	0	0	1	0	33	92					T	10690405	C	T	10690405	3	4	305	1	0	0	0	0	1	0	0	0	735	768	27	1	492	1	AP1M2	19	10690405	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	92955	10690405	48438578	972	15489											
ZNF709	163051	broad.mit.edu	37	chr19	12575498	12575498	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggggtttctctccagtgtgaGttctttcatgcattcgaaag	7	15	11	8	1	3	1	1	1	2	0	6	2	4	1	1	2	1	3	1	2	1	4			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:12575498G>A	ENST00000397732.3	-	4	1409	c.1238C>T	c.(1237-1239)aCt>aTt	p.T413I	CTD-3105H18.18_ENST00000598753.1_Intron|ZNF709_ENST00000428311.1_Missense_Mutation_p.T413I	NM_152601.3	NP_689814.1	Q8N972	ZN709_HUMAN	zinc finger protein 709	413					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.T413I(2)		large_intestine(3)|upper_aerodigestive_tract(3)	6						TCCAGTGTGAGTTCTTTCATG	0.418																																					GBM(33;565 669 12371 29134 51667)	ENST00000397732.3																			2	Substitution - Missense(2)	p.T413I(2)	kidney(1)|skin(1)	large_intestine(3)|upper_aerodigestive_tract(3)	6						c.(1237-1239)aCt>aTt		zinc finger protein 709							106	111	109					19																	12575498		2202	4299	6501	SO:0001583	missense	163051				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12575498G>A	AK095600	CCDS42504.1	19p13.2	2013-01-08			ENSG00000242852	ENSG00000242852		"Zinc fingers, C2H2-type", "-"	20629	protein-coding gene	gene with protein product							Standard	NM_152601		Approved	FLJ38281	uc002mtv.4	Q8N972	OTTHUMG00000156406	ENST00000397732.3:c.1238C>T	19.37:g.12575498G>A	ENSP00000380840:p.Thr413Ile					ZNF709_ENST00000428311.1_Missense_Mutation_p.T413I|CTD-3105H18.18_ENST00000598753.1_Intron	p.T413I	NM_152601.3	NP_689814.1	Q8N972	ZN709_HUMAN			4	1409	-			413					A8K4E6	Missense_Mutation	SNP	ENST00000397732.3	37	c.1238C>T	CCDS42504.1	.	.	.	.	.	.	.	.	.	.	G	0.031	-1.333208	0.01298	.	.	ENSG00000242852;ENSG00000196826	ENST00000397732;ENST00000428311	T;T	0.06142	3.34;3.34	3.05	-3.79	0.04320	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.35067	N	0.003471	T	0.01976	0.0062	N	0.11000	0.08	0.09310	N	1	B	0.28258	0.205	B	0.25884	0.064	T	0.43814	-0.9368	10	0.02654	T	1	.	5.8441	0.18652	0.2644:0.3999:0.3357:0.0	.	413	Q8N972	ZN709_HUMAN	I	413	ENSP00000380840:T413I;ENSP00000404127:T413I	ENSP00000404127:T413I	T	-	2	0	ZNF709;CTD-2192J16.17	12436498	0.000000	0.05858	0.002000	0.10522	0.972000	0.66771	-2.485000	0.00979	-0.610000	0.05716	0.591000	0.81541	ACT		0.418	ZNF709-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344088.1	NM_152601		4	136	0	0	0	1	0	4	136					A	12575498	G	A	12575498	3	1	305	1	0	0	0	0	1	0	0	0	18110	1029	36	3	691	3	ZNF709	19	12575498	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	1885093	12575498	46553485	973	15490											
ZNF564	163050	broad.mit.edu	37	chr19	12638262	12638262	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cattcatagggtttctctccAgtgtgagttctttcatgtat	7	18	8	8	0	4	1	2	1	2	0	6	1	5	1	1	1	0	3	1	1	2	6			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:12638262A>C	ENST00000339282.7	-	4	856	c.660T>G	c.(658-660)acT>acG	p.T220T	CTD-2192J16.20_ENST00000593682.1_3'UTR|CTD-2192J16.21_ENST00000601420.1_RNA|ZNF709_ENST00000428311.1_Intron	NM_144976.3	NP_659413.1	Q8TBZ8	ZN564_HUMAN	zinc finger protein 564	220					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	18						GTTTCTCTCCAGTGTGAGTTC	0.398																																						ENST00000339282.7																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	18						c.(658-660)acT>acG		zinc finger protein 564							81	89	86					19																	12638262		2197	4298	6495	SO:0001819	synonymous_variant	163050							g.chr19:12638262A>C	BC028367	CCDS42505.1	19p13.2	2013-09-19			ENSG00000249709	ENSG00000249709		"Zinc fingers, C2H2-type", "-"	31106	protein-coding gene	gene with protein product							Standard	NM_144976		Approved	MGC26914		Q8TBZ8	OTTHUMG00000156418	ENST00000339282.7:c.660T>G	19.37:g.12638262A>C						ZNF709_ENST00000428311.1_Intron|CTD-2192J16.20_ENST00000593682.1_3'UTR	p.T220T	NM_144976.3	NP_659413.1					4	856	-								B9EGT4|Q6P1K6	Silent	SNP	ENST00000339282.7	37	c.660T>G	CCDS42505.1																																																																																				0.398	ZNF564-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344120.2	NM_144976		4	99	0	0	0	1	0	4	99					C	12638262	A	C	12638262	2	2	305	1	0	0	0	0	0	0	0	1	17992	175	7	5		5	ZNF564	19	12638262	Silent	SNP	A	TCGA-KK-A59V-01A-11D-A29Q-08	62764	12638262	46490721	974	15491											
MAN2B1	4125	broad.mit.edu	37	chr19	12767772	12767772	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcccggctcacgcgcgccgcCgtctggctgagcgggcagat	4	6	15	16	7	2	2	1	1	1	1	3	2	3	2	3	3	1	3	3	3	0	0			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:12767772C>T	ENST00000456935.2	-	12	1558	c.1518G>A	c.(1516-1518)acG>acA	p.T506T	MAN2B1_ENST00000495617.1_5'UTR|MAN2B1_ENST00000221363.4_Silent_p.T505T	NM_000528.3|NM_001173498.1	NP_000519.2|NP_001166969.1	O00754	MA2B1_HUMAN	mannosidase, alpha, class 2B, member 1	506					cellular protein modification process (GO:0006464)|mannose metabolic process (GO:0006013)|protein deglycosylation (GO:0006517)	extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	alpha-mannosidase activity (GO:0004559)|carbohydrate binding (GO:0030246)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						CGCGCGCCGCCGTCTGGCTGA	0.562																																						ENST00000456935.2																			0				breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						c.(1516-1518)acG>acA		mannosidase, alpha, class 2B, member 1							23	24	24					19																	12767772		2203	4300	6503	SO:0001819	synonymous_variant	4125				protein deglycosylation	lysosome	alpha-mannosidase activity|zinc ion binding	g.chr19:12767772C>T		CCDS32919.1, CCDS54224.1	19p13.2	2013-09-20			ENSG00000104774	ENSG00000104774	3.2.1.24		6826	protein-coding gene	gene with protein product		609458		MANB			Standard	NM_000528		Approved	LAMAN	uc002mub.2	O00754	OTTHUMG00000156397	ENST00000456935.2:c.1518G>A	19.37:g.12767772C>T						MAN2B1_ENST00000495617.1_5'UTR|MAN2B1_ENST00000221363.4_Silent_p.T505T	p.T506T	NM_000528.3|NM_001173498.1	NP_000519.2|NP_001166969.1	O00754	MA2B1_HUMAN			12	1558	-			506					G5E928|O15330|Q16680|Q93094|Q9BW13	Silent	SNP	ENST00000456935.2	37	c.1518G>A	CCDS32919.1	.	.	.	.	.	.	.	.	.	.	C	13.64	2.296563	0.40594	.	.	ENSG00000104774	ENST00000433513	.	.	.	5.26	-10.5	0.00291	.	.	.	.	.	T	0.13243	0.0321	.	.	.	0.09310	N	0.999998	.	.	.	.	.	.	T	0.12372	-1.0550	4	.	.	.	-0.641	0.9116	0.01295	0.1769:0.2165:0.2633:0.3433	.	.	.	.	S	42	.	.	G	-	1	0	MAN2B1	12628772	0.000000	0.05858	0.000000	0.03702	0.795000	0.44927	-4.744000	0.00191	-2.220000	0.00728	0.467000	0.42956	GGC		0.562	MAN2B1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000344062.1			8	16	0	0	0	1	0	8	16					T	12767772	C	T	12767772	2	4	305	1	0	0	0	0	0	0	0	1	9216	639	23	2		2	MAN2B1	19	12767772	Silent	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	129510	12767772	46361211	975	15492											
FBXW9	84261	broad.mit.edu	37	chr19	12800212	12800212	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gagcccattgtcatgccttcGggtgcaaatggtccttggtg	6	12	13	10	1	1	0	1	0	0	0	3	1	2	0	3	3	3	1	3	3	1	3	rs146837377	byFrequency	TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:12800212G>A	ENST00000380339.3	-	9	1402	c.1366C>T	c.(1366-1368)Cga>Tga	p.R456*	FBXW9_ENST00000587955.1_Nonsense_Mutation_p.R446*|FBXW9_ENST00000544494.1_Nonsense_Mutation_p.R164*|FBXW9_ENST00000393261.3_Nonsense_Mutation_p.R426*|CTD-2659N19.2_ENST00000585742.1_RNA|CTD-2192J16.26_ENST00000593554.1_lincRNA			Q5XUX1	FBXW9_HUMAN	F-box and WD repeat domain containing 9	456					SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)					cervix(1)|lung(4)|ovary(1)|prostate(1)	7						TCATGCCTTCGGGTGCAAATG	0.622																																						ENST00000380339.3																			0				cervix(1)|lung(4)|ovary(1)|prostate(1)	7						c.(1366-1368)Cga>Tga		F-box and WD repeat domain containing 9		G	stop/ARG	2,4404	4.2+/-10.8	0,2,2201	91	79	83		1276	4.9	0.9	19	dbSNP_134	83	0,8600		0,0,4300	yes	stop-gained	FBXW9	NM_032301.2		0,2,6501	AA,AG,GG		0.0,0.0454,0.0154		426/459	12800212	2,13004	2203	4300	6503	SO:0001587	stop_gained	84261						protein binding	g.chr19:12800212G>A	BC004290	CCDS12278.2	19p13.2	2013-01-09	2007-02-08		ENSG00000132004	ENSG00000132004		"F-boxes / WD-40 domains", "WD repeat domain containing"	28136	protein-coding gene	gene with protein product		609074	"F-box and WD-40 domain protein 9"			12477932	Standard	NM_032301		Approved	MGC10870, Fbw9	uc002mum.1	Q5XUX1	OTTHUMG00000150152	ENST00000380339.3:c.1366C>T	19.37:g.12800212G>A	ENSP00000369696:p.Arg456*					FBXW9_ENST00000587955.1_Nonsense_Mutation_p.R446*|FBXW9_ENST00000544494.1_Nonsense_Mutation_p.R164*|FBXW9_ENST00000393261.3_Nonsense_Mutation_p.R426*	p.R456*			Q5XUX1	FBXW9_HUMAN			9	1402	-			456					B3KVP7|Q9BT89	Nonsense_Mutation	SNP	ENST00000380339.3	37	c.1366C>T		.	.	.	.	.	.	.	.	.	.	G	39	7.526025	0.98339	4.54E-4	0.0	ENSG00000132004	ENST00000544494;ENST00000393261;ENST00000380339	.	.	.	4.93	4.93	0.64822	.	0.094954	0.43747	D	0.000522	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-12.4983	15.037	0.71754	0.0:0.0:1.0:0.0	.	.	.	.	X	164;426;456	.	ENSP00000369696:R456X	R	-	1	2	FBXW9	12661212	0.955000	0.32602	0.923000	0.36655	0.583000	0.36354	3.342000	0.52159	2.282000	0.76494	0.591000	0.81541	CGA		0.622	FBXW9-201	KNOWN	basic	protein_coding	protein_coding		NM_032301		11	28	0	0	0	1	0	11	28					A	12800212	G	A	12800212	4	1	305	1	0	0	0	0	0	1	0	0	5771	1124	39	2	108	2	FBXW9	19	12800212	Nonsense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	32440	12800212	46328771	976	15493											
NACC1	112939	broad.mit.edu	37	chr19	13249043	13249043	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgtgcaccaacgcccgccgCgtcgtgcgcaagagctggat	8	6	13	14	6	0	1	0	0	0	1	1	2	0	2	3	1	4	3	3	1	2	0			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:13249043C>T	ENST00000292431.4	+	6	1533	c.1407C>T	c.(1405-1407)cgC>cgT	p.R469R	CTC-250I14.3_ENST00000591825.1_RNA	NM_052876.3	NP_443108.1	Q96RE7	NACC1_HUMAN	nucleus accumbens associated 1, BEN and BTB (POZ) domain containing	469	BEN. {ECO:0000255|PROSITE- ProRule:PRU00784}.				negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)|protein homooligomerization (GO:0051260)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear body (GO:0016604)|nucleus (GO:0005634)				endometrium(3)|large_intestine(2)|lung(3)|skin(1)	9						ACGCCCGCCGCGTCGTGCGCA	0.607																																						ENST00000292431.4																			0				endometrium(3)|large_intestine(2)|lung(3)|skin(1)	9						c.(1405-1407)cgC>cgT		nucleus accumbens associated 1, BEN and BTB (POZ) domain containing							167	144	152					19																	13249043		2203	4300	6503	SO:0001819	synonymous_variant	112939				negative regulation of transcription, DNA-dependent|positive regulation of cell proliferation|protein homooligomerization|transcription, DNA-dependent	cytoplasm|nuclear body		g.chr19:13249043C>T	AF395817	CCDS12294.1	19p13.13	2013-01-09	2008-10-03	2008-10-03		ENSG00000160877		"BEN domain containing", "BTB/POZ domain containing"	20967	protein-coding gene	gene with protein product	"nucleus accumbens associated 1", "BEN domain containing 8"	610672	"BTB (POZ) domain containing 14B"	BTBD14B		12477932	Standard	NM_052876		Approved	NAC1, NAC-1, BEND8, BTBD30	uc002mwm.4	Q96RE7		ENST00000292431.4:c.1407C>T	19.37:g.13249043C>T							p.R469R	NM_052876.3	NP_443108.1	Q96RE7	NACC1_HUMAN			6	1533	+			469			BEN.			Silent	SNP	ENST00000292431.4	37	c.1407C>T	CCDS12294.1																																																																																				0.607	NACC1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452879.1	NM_052876		61	158	0	0	0	1	0	61	158					T	13249043	C	T	13249043	2	4	305	1	0	0	0	0	0	0	0	1	10135	755	27	1		1	NACC1	19	13249043	Silent	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	448831	13249043	45879940	977	15494											
CACNA1A	773	broad.mit.edu	37	chr19	13409842	13409842	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgccgagccgctggggtcccGggcccgatcgtggtagcggg	3	5	19	14	7	0	0	0	0	0	0	2	2	1	0	4	5	2	2	4	5	1	1			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:13409842G>A	ENST00000360228.5	-	19	2604	c.2605C>T	c.(2605-2607)Cgg>Tgg	p.R869W	CACNA1A_ENST00000573710.2_Missense_Mutation_p.R870W	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	870					adult walking behavior (GO:0007628)|behavioral response to pain (GO:0048266)|calcium ion import (GO:0070509)|calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cell death (GO:0008219)|cell growth (GO:0016049)|cellular chloride ion homeostasis (GO:0030644)|cerebellar molecular layer development (GO:0021679)|cerebellar Purkinje cell differentiation (GO:0021702)|cerebellum maturation (GO:0021590)|dendrite morphogenesis (GO:0048813)|energy reserve metabolic process (GO:0006112)|gamma-aminobutyric acid secretion (GO:0014051)|gamma-aminobutyric acid signaling pathway (GO:0007214)|glucose metabolic process (GO:0006006)|hormone metabolic process (GO:0042445)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|musculoskeletal movement, spinal reflex action (GO:0050883)|negative regulation of hormone biosynthetic process (GO:0032353)|negative regulation of neuron apoptotic process (GO:0043524)|neuromuscular process controlling balance (GO:0050885)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter metabolic process (GO:0042133)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|receptor clustering (GO:0043113)|regulation of acetylcholine secretion, neurotransmission (GO:0014056)|regulation of axonogenesis (GO:0050770)|regulation of calcium ion-dependent exocytosis (GO:0017158)|regulation of insulin secretion (GO:0050796)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|spinal cord motor neuron differentiation (GO:0021522)|sulfur amino acid metabolic process (GO:0000096)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transmission of nerve impulse (GO:0019226)|vestibular nucleus development (GO:0021750)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|syntaxin binding (GO:0019905)|voltage-gated calcium channel activity (GO:0005245)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Loperamide(DB00836)|Pregabalin(DB00230)|Spironolactone(DB00421)|Verapamil(DB00661)	CTGGGGTCCCGGGCCCGATCG	0.751																																						ENST00000360228.5																			0				breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42						c.(2605-2607)Cgg>Tgg		calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)																																			SO:0001583	missense	773				cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding	g.chr19:13409842G>A	U79666	CCDS45998.1, CCDS45999.1	19p13	2014-09-17			ENSG00000141837	ENSG00000141837		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1388	protein-coding gene	gene with protein product		601011		CACNL1A4, SCA6, MHP1, MHP		8825650, 16382099, 23827678	Standard	NM_000068		Approved	Cav2.1, EA2, APCA, HPCA, FHM	uc010xne.2	O00555	OTTHUMG00000044590	ENST00000360228.5:c.2605C>T	19.37:g.13409842G>A	ENSP00000353362:p.Arg869Trp					CACNA1A_ENST00000573710.2_Missense_Mutation_p.R870W	p.R869W	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		19	2604	-			870					J3KP41|P78510|P78511|Q16290|Q92690|Q99790|Q99791|Q99792|Q99793|Q9NS88|Q9UDC4	Missense_Mutation	SNP	ENST00000360228.5	37	c.2605C>T	CCDS45998.1	.	.	.	.	.	.	.	.	.	.	G	6.214	0.407681	0.11754	.	.	ENSG00000141837	ENST00000360228;ENST00000418012;ENST00000357018;ENST00000325084	D	0.96011	-3.88	3.37	1.12	0.20585	.	1.266470	0.05519	N	0.561821	D	0.94951	0.8367	N	0.22421	0.69	0.09310	N	1	B;D;D	0.89917	0.006;0.998;1.0	B;P;D	0.74023	0.001;0.857;0.982	D	0.86811	0.1998	10	0.87932	D	0	.	5.9446	0.19211	0.1135:0.3778:0.5086:0.0	.	870;873;869	O00555;E9PD31;Q9NS88	CAC1A_HUMAN;.;.	W	869;873;870;870	ENSP00000353362:R869W	ENSP00000317661:R870W	R	-	1	2	CACNA1A	13270842	0.965000	0.33210	0.218000	0.23776	0.005000	0.04900	3.737000	0.55060	0.384000	0.24942	-0.693000	0.03709	CGG		0.751	CACNA1A-001	KNOWN	non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000104062.2	NM_000068		3	25	0	0	0	1	0	3	25					A	13409842	G	A	13409842	3	1	305	1	0	0	0	0	1	0	0	0	2538	1115	39	2	5133	2	CACNA1A	19	13409842	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	160799	13409842	45719141	978	15495											
CCDC130	81576	broad.mit.edu	37	chr19	13868281	13868281	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atggctgcaagaaccacatcGgcatgggtgagcctctgccc	9	7	12	13	1	1	2	0	1	1	1	2	2	1	2	3	3	4	3	3	3	2	0	rs202065091		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:13868281G>A	ENST00000586600.1	+	6	693	c.190G>A	c.(190-192)Ggc>Agc	p.G64S	CCDC130_ENST00000221554.8_Missense_Mutation_p.G64S			P13994	CC130_HUMAN	coiled-coil domain containing 130	64					response to virus (GO:0009615)					endometrium(2)|kidney(1)|large_intestine(3)|ovary(1)|skin(2)|urinary_tract(1)	10			OV - Ovarian serous cystadenocarcinoma(19;6.02e-23)|Epithelial(5;2.58e-18)			GAACCACATCGGCATGGGTGA	0.557													G|||	1	0.000199681	0	0	5008	,	,		17099	0.001		0	False		,,,				2504	0					ENST00000586600.1																			0				endometrium(2)|kidney(1)|large_intestine(3)|ovary(1)|skin(2)|urinary_tract(1)	10						c.(190-192)Ggc>Agc		coiled-coil domain containing 130							139	100	113					19																	13868281		2203	4300	6503	SO:0001583	missense	81576				response to virus		protein binding	g.chr19:13868281G>A	AF250306	CCDS12296.1	19p13.13	2008-02-05				ENSG00000104957			28118	protein-coding gene	gene with protein product						3203696	Standard	NM_030818		Approved	MGC10471	uc002mxc.1	P13994		ENST00000586600.1:c.190G>A	19.37:g.13868281G>A	ENSP00000465776:p.Gly64Ser					CCDC130_ENST00000221554.8_Missense_Mutation_p.G64S	p.G64S			P13994	CC130_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;6.02e-23)|Epithelial(5;2.58e-18)		6	693	+			64					Q9BQ72	Missense_Mutation	SNP	ENST00000586600.1	37	c.190G>A	CCDS12296.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	34	5.392143	0.95988	.	.	ENSG00000104957	ENST00000540216;ENST00000221554	T	0.30981	1.51	4.79	4.79	0.61399	.	0.000000	0.85682	D	0.000000	T	0.49338	0.1551	M	0.64404	1.975	0.80722	D	1	D;D	0.89917	0.997;1.0	D;D	0.74023	0.957;0.982	T	0.38628	-0.9652	10	0.15952	T	0.53	-29.379	15.3296	0.74196	0.0:0.0:1.0:0.0	.	64;64	B7Z1U2;P13994	.;CC130_HUMAN	S	64	ENSP00000221554:G64S	ENSP00000221554:G64S	G	+	1	0	CCDC130	13729281	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	8.638000	0.91019	2.197000	0.70478	0.655000	0.94253	GGC		0.557	CCDC130-001	KNOWN	alternative_5_UTR|upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453216.2	NM_030818		9	18	0	0	0	1	0	9	18					A	13868281	G	A	13868281	3	1	305	1	0	0	0	0	1	0	0	0	2766	1116	39	2	204	2	CCDC130	19	13868281	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	458439	13868281	45260702	979	15496											
CC2D1A	54862	broad.mit.edu	37	chr19	14024105	14024105	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caagatgcggcgctacgatcGggggcttaaagtaagtgggc	10	7	16	8	4	0	1	0	0	0	1	1	2	0	1	0	4	2	3	0	4	5	3	rs559696209		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:14024105G>A	ENST00000318003.7	+	5	744	c.503G>A	c.(502-504)cGg>cAg	p.R168Q	CC2D1A_ENST00000589606.1_Missense_Mutation_p.R168Q	NM_017721.4	NP_060191.3	Q6P1N0	C2D1A_HUMAN	coiled-coil and C2 domain containing 1A	168					positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|signal transducer activity (GO:0004871)			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(2)|skin(2)	27			OV - Ovarian serous cystadenocarcinoma(19;3.49e-23)			CGCTACGATCGGGGGCTTAAA	0.607													G|||	0	0	0	0	5008	,	,		17893	0		0	False		,,,				2504	0					ENST00000318003.7																			0				NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(2)|skin(2)	27						c.(502-504)cGg>cAg		coiled-coil and C2 domain containing 1A							25	30	29					19																	14024105		1966	4145	6111	SO:0001583	missense	54862				positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus|plasma membrane	DNA binding|signal transducer activity	g.chr19:14024105G>A	AF536205	CCDS42512.1	19p13.12	2007-01-08				ENSG00000132024			30237	protein-coding gene	gene with protein product	"mental retardation, nonsyndromic, autosomal recessive, 3"	610055				12761501, 16033914	Standard	NM_017721		Approved	FLJ20241, MRT3	uc002mxo.2	Q6P1N0		ENST00000318003.7:c.503G>A	19.37:g.14024105G>A	ENSP00000313601:p.Arg168Gln					CC2D1A_ENST00000589606.1_Missense_Mutation_p.R168Q	p.R168Q	NM_017721.4	NP_060191.3	Q6P1N0	C2D1A_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;3.49e-23)		5	744	+			168					Q7Z435|Q86XV0|Q8NF89|Q9H603|Q9NXI1	Missense_Mutation	SNP	ENST00000318003.7	37	c.503G>A	CCDS42512.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.314454	0.81358	.	.	ENSG00000132024	ENST00000318003;ENST00000254346;ENST00000389233	T	0.27720	1.65	4.8	4.8	0.61643	Domain of unknown function DM14 (1);	0.065929	0.64402	D	0.000015	T	0.59918	0.2229	M	0.84219	2.685	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.996	T	0.66610	-0.5880	10	0.87932	D	0	-26.1853	16.7813	0.85563	0.0:0.0:1.0:0.0	.	168;168	Q6P1N0-2;Q6P1N0	.;C2D1A_HUMAN	Q	168;6;143	ENSP00000313601:R168Q	ENSP00000254346:R6Q	R	+	2	0	CC2D1A	13885105	1.000000	0.71417	0.996000	0.52242	0.239000	0.25481	7.883000	0.87264	2.494000	0.84150	0.561000	0.74099	CGG		0.607	CC2D1A-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000457954.1	NM_017721		15	55	0	0	0	1	0	15	55					A	14024105	G	A	14024105	3	1	305	1	0	0	0	0	1	0	0	0	2726	1116	39	2	521	2	CC2D1A	19	14024105	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	155824	14024105	45104878	980	15497											
CC2D1A	54862	broad.mit.edu	37	chr19	14029735	14029736	+	Frame_Shift_Ins	INS	-	-	C																															ccggcccagaggtgcccccaINScccccgaggaccctgctgga																										TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:14029735_14029736insC	ENST00000318003.7	+	10	1270_1271	c.1029_1030insC	c.(1030-1032)cccfs	p.P344fs	CC2D1A_ENST00000589606.1_Frame_Shift_Ins_p.P344fs	NM_017721.4	NP_060191.3	Q6P1N0	C2D1A_HUMAN	coiled-coil and C2 domain containing 1A	344	Pro-rich.				positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|signal transducer activity (GO:0004871)			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(2)|skin(2)	27			OV - Ovarian serous cystadenocarcinoma(19;3.49e-23)			AGGTGCCCCCACCCCCGAGGAC	0.668																																						ENST00000318003.7																			0				NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(2)|skin(2)	27						c.(1027-1032)ccccccfs		coiled-coil and C2 domain containing 1A																																				SO:0001589	frameshift_variant	54862				positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus|plasma membrane	DNA binding|signal transducer activity	g.chr19:14029735_14029736insC	AF536205	CCDS42512.1	19p13.12	2007-01-08				ENSG00000132024			30237	protein-coding gene	gene with protein product	"mental retardation, nonsyndromic, autosomal recessive, 3"	610055				12761501, 16033914	Standard	NM_017721		Approved	FLJ20241, MRT3	uc002mxo.2	Q6P1N0		ENST00000318003.7:c.1034dupC	19.37:g.14029740_14029740dupC	ENSP00000313601:p.Pro344fs					CC2D1A_ENST00000589606.1_Frame_Shift_Ins_p.PP343fs	p.PP343fs	NM_017721.4	NP_060191.3	Q6P1N0	C2D1A_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;3.49e-23)		10	1270_1271	+			343			Pro-rich.		Q7Z435|Q86XV0|Q8NF89|Q9H603|Q9NXI1	Frame_Shift_Ins	INS	ENST00000318003.7	37	c.1029_1030insC	CCDS42512.1																																																																																				0.668	CC2D1A-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000457954.1	NM_017721		10	30						10	30	---	---	---	---	C	14029736	-	C	14029735	7	5	305	1	0	1	1	0	0	0	0	0	2726	146	6	0	1067	0	CC2D1A	19	14029735	Frame_Shift_Ins	INS	-	TCGA-KK-A59V-01A-11D-A29Q-08	5630	14029735	45099248	981	15498											
LPHN1	22859	broad.mit.edu	37	chr19	14267939	14267939	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaatagtgcagcaggccggCgaagatggggcaggcaatct	12	5	16	8	2	1	1	0	0	1	1	1	3	1	1	1	5	2	4	1	5	4	1			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:14267939C>T	ENST00000340736.6	-	16	3076	c.2779G>A	c.(2779-2781)Gcc>Acc	p.A927T	LPHN1_ENST00000361434.3_Missense_Mutation_p.A922T|CTB-55O6.12_ENST00000588387.1_RNA|CTB-55O6.12_ENST00000588658.1_RNA|CTB-55O6.12_ENST00000592086.1_RNA	NM_001008701.2	NP_001008701.1	O94910	LPHN1_HUMAN	latrophilin 1	927					calcium-mediated signaling using intracellular calcium source (GO:0035584)|G-protein coupled receptor signaling pathway (GO:0007186)|heterophilic cell-cell adhesion (GO:0007157)|neuropeptide signaling pathway (GO:0007218)|positive regulation of synapse maturation (GO:0090129)	axon (GO:0030424)|cell junction (GO:0030054)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)|synapse (GO:0045202)	carbohydrate binding (GO:0030246)|cell adhesion molecule binding (GO:0050839)|G-protein coupled receptor activity (GO:0004930)|latrotoxin receptor activity (GO:0016524)			central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						AGCAGGCCGGCGAAGATGGGG	0.642																																						ENST00000340736.6																			0				central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(2779-2781)Gcc>Acc		latrophilin 1							46	47	47					19																	14267939		2203	4300	6503	SO:0001583	missense	22859				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding	g.chr19:14267939C>T	AB020628	CCDS12307.1, CCDS32928.1	19p13.2	2014-08-08				ENSG00000072071		"-", "GPCR / Class B : Orphans"	20973	protein-coding gene	gene with protein product						10994649	Standard	NM_014921		Approved	KIAA0821, CIRL1, LEC2	uc010xnn.2	O94910		ENST00000340736.6:c.2779G>A	19.37:g.14267939C>T	ENSP00000340688:p.Ala927Thr					LPHN1_ENST00000361434.3_Missense_Mutation_p.A922T|CTB-55O6.12_ENST00000592086.1_RNA|CTB-55O6.12_ENST00000588387.1_RNA	p.A927T	NM_001008701.2	NP_001008701.1	O94910	LPHN1_HUMAN			16	3076	-			927					Q96IE7|Q9BU07|Q9HAR3	Missense_Mutation	SNP	ENST00000340736.6	37	c.2779G>A	CCDS32928.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.045084	0.75846	.	.	ENSG00000072071	ENST00000340736;ENST00000361434	T;T	0.50277	0.75;0.75	4.62	4.62	0.57501	GPCR, family 2-like (1);	0.000000	0.85682	D	0.000000	T	0.66761	0.2822	M	0.77712	2.385	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.70605	-0.4826	10	0.87932	D	0	.	10.5777	0.45238	0.1927:0.8073:0.0:0.0	.	922;927	O94910-2;O94910	.;LPHN1_HUMAN	T	927;922	ENSP00000340688:A927T;ENSP00000355328:A922T	ENSP00000340688:A927T	A	-	1	0	LPHN1	14128939	1.000000	0.71417	0.946000	0.38457	0.929000	0.56500	5.762000	0.68809	2.265000	0.75225	0.491000	0.48974	GCC		0.642	LPHN1-001	KNOWN	overlapping_uORF|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000459696.1	NM_014921		15	36	0	0	0	1	0	15	36					T	14267939	C	T	14267939	3	4	305	1	0	0	0	0	1	0	0	0	8915	768	27	1	1681	1	LPHN1	19	14267939	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	238204	14267939	44861044	982	15499											
PKN1	5585	broad.mit.edu	37	chr19	14562728	14562728	+	Frame_Shift_Del	DEL	C	C	-																															ctcaatggggggacctgggaCcccagacagccgccccccct																										TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:14562728delC	ENST00000242783.6	+	7	1223	c.1058delC	c.(1057-1059)accfs	p.T353fs	PKN1_ENST00000342216.4_Frame_Shift_Del_p.T359fs	NM_002741.3	NP_002732.3	Q16512	PKN1_HUMAN	protein kinase N1	353	C2.				activation of JUN kinase activity (GO:0007257)|epithelial cell migration (GO:0010631)|histone H3-T11 phosphorylation (GO:0035407)|hyperosmotic response (GO:0006972)|protein phosphorylation (GO:0006468)|regulation of cell motility (GO:2000145)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|endosome (GO:0005768)|midbody (GO:0030496)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|GTP-Rho binding (GO:0017049)|histone binding (GO:0042393)|histone deacetylase binding (GO:0042826)|histone kinase activity (H3-T11 specific) (GO:0035402)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein kinase C binding (GO:0005080)|protein serine/threonine kinase activity (GO:0004674)|Rac GTPase binding (GO:0048365)			breast(3)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)	31						GGACCTGGGACCCCAGACAGC	0.682																																					NSCLC(185;2539 2965 10733 52867)	ENST00000242783.6																			0				breast(3)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)	31						c.(1057-1059)acfs		protein kinase N1							21	29	26					19																	14562728		1938	4133	6071	SO:0001589	frameshift_variant	5585				activation of JUN kinase activity|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription, DNA-dependent	endosome|nucleus|plasma membrane	androgen receptor binding|ATP binding|chromatin binding|GTP-Rho binding|histone binding|histone deacetylase binding|histone kinase activity (H3-T11 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|Rac GTPase binding	g.chr19:14562728delC	S75546	CCDS42513.1, CCDS42514.1	19p13.12	2008-05-14	2004-07-01	2004-07-01	ENSG00000123143	ENSG00000123143			9405	protein-coding gene	gene with protein product		601032	"protein kinase C-like 1"	PRKCL1		9570957	Standard	NM_002741		Approved	DBK, PRK1, PKN, MGC46204, PAK1	uc002myq.3	Q16512	OTTHUMG00000039611	ENST00000242783.6:c.1058delC	19.37:g.14562728delC	ENSP00000242783:p.Thr353fs					PKN1_ENST00000342216.4_Frame_Shift_Del_p.T359fs	p.T353fs	NM_002741.3	NP_002732.3	Q16512	PKN1_HUMAN			7	1223	+			353			C2.		A8K7W5|B2R9R4|B3KVN3|Q15143|Q504U4|Q8IUV5|Q9UD44	Frame_Shift_Del	DEL	ENST00000242783.6	37	c.1058delC	CCDS42513.1																																																																																				0.682	PKN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095510.1	NM_002741, NM_213560		14	33						14	33	---	---	---	---	-	14562728	C	-	14562728	7	5	305	1	0	1	0	1	0	0	0	0	11979	507	18	0	1127	0	PKN1	19	14562728	Frame_Shift_Del	DEL	C	TCGA-KK-A59V-01A-11D-A29Q-08	294789	14562728	44566255	983	15500											
NDUFB7	4713	broad.mit.edu	37	chr19	14677003	14677003	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcctttggccaactctgccGccttcttctcccgccgcttc	2	12	8	19	3	3	0	0	0	3	0	5	0	3	0	6	2	2	1	6	2	1	4	rs375409166		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:14677003G>A	ENST00000215565.2	-	3	417	c.356C>T	c.(355-357)gCg>gTg	p.A119V		NM_004146.5	NP_004137.2	P17568	NDUB7_HUMAN	NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 7, 18kDa	119					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrial respiratory chain complex I (GO:0005747)|mitochondrion (GO:0005739)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)			endometrium(3)|large_intestine(2)|lung(2)|ovary(1)	8						CAACTCTGCCGCCTTCTTCTC	0.627																																						ENST00000215565.2																			0				endometrium(3)|large_intestine(2)|lung(2)|ovary(1)	8						c.(355-357)gCg>gTg		NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 7, 18kDa	NADH(DB00157)	G	VAL/ALA	1,4405	2.1+/-5.4	0,1,2202	26	31	29		356	-0.1	0.1	19		29	0,8600		0,0,4300	no	missense	NDUFB7	NM_004146.5	64	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	119/138	14677003	1,13005	2203	4300	6503	SO:0001583	missense	4713				mitochondrial electron transport, NADH to ubiquinone|transport	mitochondrial intermembrane space|mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity	g.chr19:14677003G>A		CCDS12314.1	19p13.12	2011-07-04	2002-08-29		ENSG00000099795	ENSG00000099795		"Mitochondrial respiratory chain complex / Complex I"	7702	protein-coding gene	gene with protein product	"NADH-ubiquinone oxidoreductase B18 subunit", "complex I B18 subunit"	603842	"NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 7 (18kD, B18)"			9763677, 10830904	Standard	NM_004146		Approved	B18, CI-B18, MGC2480	uc002mzg.3	P17568		ENST00000215565.2:c.356C>T	19.37:g.14677003G>A	ENSP00000215565:p.Ala119Val						p.A119V	NM_004146.5	NP_004137.2	P17568	NDUB7_HUMAN			3	417	-			119					Q6ICN9|Q9UI16	Missense_Mutation	SNP	ENST00000215565.2	37	c.356C>T	CCDS12314.1	.	.	.	.	.	.	.	.	.	.	G	12.44	1.939128	0.34189	2.27E-4	0.0	ENSG00000099795	ENST00000215565	T	0.47177	0.85	5.02	-0.0961	0.13638	.	0.171732	0.49916	D	0.000134	T	0.29652	0.0740	L	0.29908	0.895	0.28146	N	0.929603	P	0.36438	0.553	B	0.24006	0.05	T	0.12941	-1.0528	10	0.44086	T	0.13	-0.2972	14.5396	0.67984	0.0:0.0:0.641:0.359	.	119	P17568	NDUB7_HUMAN	V	119	ENSP00000215565:A119V	ENSP00000215565:A119V	A	-	2	0	NDUFB7	14538003	0.595000	0.26857	0.127000	0.21898	0.010000	0.07245	0.931000	0.28871	0.010000	0.14839	-0.485000	0.04761	GCG		0.627	NDUFB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466025.1	NM_004146		12	31	0	0	0	1	0	12	31					A	14677003	G	A	14677003	3	1	305	1	0	0	0	0	1	0	0	0	10286	1087	38	1	61	1	NDUFB7	19	14677003	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	114275	14677003	44451980	984	15501											
BRD4	23476	broad.mit.edu	37	chr19	15366907	15366907	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttgctgctattatttttcttCgtctttttaggaggaggttc	5	21	9	6	1	2	0	0	0	2	0	4	2	2	2	0	3	2	3	0	3	3	10	rs142701429	byFrequency	TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:15366907C>T	ENST00000263377.2	-	9	1940	c.1719G>A	c.(1717-1719)acG>acA	p.T573T	BRD4_ENST00000371835.4_Silent_p.T573T|BRD4_ENST00000360016.5_Silent_p.T573T|BRD4_ENST00000602230.1_5'Flank	NM_058243.2	NP_490597.1	O60885	BRD4_HUMAN	bromodomain containing 4	573	BID region.|Lys-rich.				cellular response to DNA damage stimulus (GO:0006974)|chromatin remodeling (GO:0006338)|chromosome segregation (GO:0007059)|histone H3-K14 acetylation (GO:0044154)|histone H4-K12 acetylation (GO:0043983)|inner cell mass cell proliferation (GO:0001833)|negative regulation of DNA damage checkpoint (GO:2000002)|positive regulation of DNA binding (GO:0043388)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of inflammatory response (GO:0050727)|regulation of phosphorylation of RNA polymerase II C-terminal domain (GO:1901407)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromosome (GO:0005694)|condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|positive transcription elongation factor complex b (GO:0008024)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(3;3.02e-24)|Epithelial(3;4.71e-20)|all cancers(3;2.26e-18)			tatttttcttcgtctttttag	0.443			T	C15orf55	lethal midline carcinoma of young people								C|||	4	0.000798722	0	0	5008	,	,		21385	0		0	False		,,,				2504	0.0041					ENST00000263377.2				Dom	yes		19	19p13.1	23476	T	bromodomain containing 4			E	C15orf55		lethal midline carcinoma of young people		0				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	21						c.(1717-1719)acG>acA		bromodomain containing 4		C	,	0,4406		0,0,2203	269	240	250		1719,1719	-8.6	0.9	19	dbSNP_134	250	5,8595	4.3+/-15.6	0,5,4295	no	coding-synonymous,coding-synonymous	BRD4	NM_014299.2,NM_058243.2	,	0,5,6498	TT,TC,CC		0.0581,0.0,0.0384	,	573/723,573/1363	15366907	5,13001	2203	4300	6503	SO:0001819	synonymous_variant	23476				interspecies interaction between organisms|positive regulation of G2/M transition of mitotic cell cycle|positive regulation of transcription elongation from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle	condensed nuclear chromosome|cytoplasm	protein binding	g.chr19:15366907C>T	Y12059	CCDS12328.1, CCDS46004.1	19p13.12	2013-09-20	2002-01-14		ENSG00000141867	ENSG00000141867			13575	protein-coding gene	gene with protein product	"chromosome-associated protein"	608749	"bromodomain-containing 4"			10938129	Standard	NM_058243		Approved	HUNKI, MCAP, CAP, HUNK1	uc002nar.3	O60885	OTTHUMG00000183252	ENST00000263377.2:c.1719G>A	19.37:g.15366907C>T						BRD4_ENST00000371835.4_Silent_p.T573T|BRD4_ENST00000360016.5_Silent_p.T573T	p.T573T	NM_058243.2	NP_490597.1	O60885	BRD4_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;3.02e-24)|Epithelial(3;4.71e-20)|all cancers(3;2.26e-18)		9	1940	-			573			Lys-rich.		O60433|Q4G0X8|Q86YS8|Q96PD3	Silent	SNP	ENST00000263377.2	37	c.1719G>A	CCDS12328.1																																																																																				0.443	BRD4-001	KNOWN	overlapping_uORF|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465800.3	NM_058243		4	39	0	0	0	1	0	4	39					T	15366907	C	T	15366907	2	4	305	1	0	0	0	0	0	0	0	1	1504	871	31	2		2	BRD4	19	15366907	Silent	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	689904	15366907	43762076	985	15502											
BRD4	23476	broad.mit.edu	37	chr19	15366930	15366930	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttttaggaggaggttcctTggctttgctttttttattct	4	22	9	6	0	1	0	0	0	1	0	2	2	2	2	1	4	1	3	1	4	2	11			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:15366930T>C	ENST00000263377.2	-	9	1917	c.1696A>G	c.(1696-1698)Aag>Gag	p.K566E	BRD4_ENST00000371835.4_Missense_Mutation_p.K566E|BRD4_ENST00000360016.5_Missense_Mutation_p.K566E|BRD4_ENST00000602230.1_5'Flank	NM_058243.2	NP_490597.1	O60885	BRD4_HUMAN	bromodomain containing 4	566	BID region.|Lys-rich.				cellular response to DNA damage stimulus (GO:0006974)|chromatin remodeling (GO:0006338)|chromosome segregation (GO:0007059)|histone H3-K14 acetylation (GO:0044154)|histone H4-K12 acetylation (GO:0043983)|inner cell mass cell proliferation (GO:0001833)|negative regulation of DNA damage checkpoint (GO:2000002)|positive regulation of DNA binding (GO:0043388)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of inflammatory response (GO:0050727)|regulation of phosphorylation of RNA polymerase II C-terminal domain (GO:1901407)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromosome (GO:0005694)|condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|positive transcription elongation factor complex b (GO:0008024)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(3;3.02e-24)|Epithelial(3;4.71e-20)|all cancers(3;2.26e-18)			ggaggttccttggctttgctt	0.418			T	C15orf55	lethal midline carcinoma of young people																																	ENST00000263377.2				Dom	yes		19	19p13.1	23476	T	bromodomain containing 4			E	C15orf55		lethal midline carcinoma of young people		0				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	21						c.(1696-1698)Aag>Gag		bromodomain containing 4							293	259	270					19																	15366930		2203	4300	6503	SO:0001583	missense	23476				interspecies interaction between organisms|positive regulation of G2/M transition of mitotic cell cycle|positive regulation of transcription elongation from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle	condensed nuclear chromosome|cytoplasm	protein binding	g.chr19:15366930T>C	Y12059	CCDS12328.1, CCDS46004.1	19p13.12	2013-09-20	2002-01-14		ENSG00000141867	ENSG00000141867			13575	protein-coding gene	gene with protein product	"chromosome-associated protein"	608749	"bromodomain-containing 4"			10938129	Standard	NM_058243		Approved	HUNKI, MCAP, CAP, HUNK1	uc002nar.3	O60885	OTTHUMG00000183252	ENST00000263377.2:c.1696A>G	19.37:g.15366930T>C	ENSP00000263377:p.Lys566Glu					BRD4_ENST00000371835.4_Missense_Mutation_p.K566E|BRD4_ENST00000360016.5_Missense_Mutation_p.K566E	p.K566E	NM_058243.2	NP_490597.1	O60885	BRD4_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;3.02e-24)|Epithelial(3;4.71e-20)|all cancers(3;2.26e-18)		9	1917	-			566			Lys-rich.		O60433|Q4G0X8|Q86YS8|Q96PD3	Missense_Mutation	SNP	ENST00000263377.2	37	c.1696A>G	CCDS12328.1	.	.	.	.	.	.	.	.	.	.	T	15.39	2.818243	0.50633	.	.	ENSG00000141867	ENST00000263377;ENST00000371835;ENST00000360016	T;T;T	0.64803	-0.12;2.65;2.65	5.23	4.19	0.49359	.	0.107475	0.41500	D	0.000878	T	0.43634	0.1256	L	0.29908	0.895	0.28343	N	0.92125	P;B;P	0.39782	0.688;0.341;0.462	B;B;B	0.34536	0.185;0.118;0.121	T	0.39272	-0.9622	10	0.44086	T	0.13	-26.9324	6.7922	0.23705	0.1512:0.0:0.1577:0.691	.	566;566;566	Q4G0X8;O60885-2;O60885	.;.;BRD4_HUMAN	E	566	ENSP00000263377:K566E;ENSP00000360901:K566E;ENSP00000353112:K566E	ENSP00000263377:K566E	K	-	1	0	BRD4	15227930	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	1.589000	0.36644	0.799000	0.34018	0.459000	0.35465	AAG		0.418	BRD4-001	KNOWN	overlapping_uORF|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465800.3	NM_058243		11	39	0	0	0	1	0	11	39					C	15366930	T	C	15366930	3	2	305	1	0	0	0	0	1	0	0	0	1504	1821	63	4	2455	4	BRD4	19	15366930	Missense_Mutation	SNP	T	TCGA-KK-A59V-01A-11D-A29Q-08	23	15366930	43762053	986	15503											
MYO9B	4650	broad.mit.edu	37	chr19	17270255	17270255	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	accaaaagaaaaacggtgacCgtcaacgacaagcttatcct	17	6	7	11	3	1	2	1	1	0	1	2	3	2	2	3	1	3	1	3	1	7	1	rs376878511		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:17270255C>T	ENST00000594824.1	+	8	1527	c.1380C>T	c.(1378-1380)acC>acT	p.T460T	CTD-3032J10.2_ENST00000597216.1_RNA|CTD-3032J10.2_ENST00000599360.1_RNA|MYO9B_ENST00000397274.2_Silent_p.T460T|MYO9B_ENST00000595618.1_Silent_p.T460T			Q13459	MYO9B_HUMAN	myosin IXB	460	Myosin motor.				actin filament-based movement (GO:0030048)|establishment of cell polarity (GO:0030010)|lamellipodium morphogenesis (GO:0072673)|macrophage chemotaxis (GO:0048246)|monocyte chemotaxis (GO:0002548)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|filamentous actin (GO:0031941)|filopodium tip (GO:0032433)|lamellipodium (GO:0030027)|membrane (GO:0016020)|myosin complex (GO:0016459)|perinuclear region of cytoplasm (GO:0048471)|ruffle (GO:0001726)	actin binding (GO:0003779)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|Rho GTPase activator activity (GO:0005100)|zinc ion binding (GO:0008270)			breast(3)|endometrium(9)|kidney(2)|large_intestine(1)|lung(19)|soft_tissue(1)|urinary_tract(4)	39						AAACGGTGACCGTCAACGACA	0.517													C|||	1	0.000199681	0	0	5008	,	,		16073	0.001		0	False		,,,				2504	0					ENST00000595618.1																			0				breast(3)|endometrium(9)|kidney(2)|large_intestine(1)|lung(19)|soft_tissue(1)|urinary_tract(4)	39						c.(1378-1380)acC>acT		myosin IXB							103	101	101					19																	17270255		1979	4157	6136	SO:0001819	synonymous_variant	4650				actin filament-based movement	cell cortex|cytosol|filamentous actin|myosin complex|perinuclear region of cytoplasm	actin binding|ADP binding|ATP binding|ATPase activity|calmodulin binding|metal ion binding|microfilament motor activity|Rho GTPase activator activity	g.chr19:17270255C>T		CCDS46010.1	19p13.1	2011-09-27				ENSG00000099331		"Myosins / Myosin superfamily : Class IX"	7609	protein-coding gene	gene with protein product		602129		CELIAC4		9226381	Standard	NM_004145		Approved		uc010eak.3	Q13459		ENST00000594824.1:c.1380C>T	19.37:g.17270255C>T						MYO9B_ENST00000594824.1_Silent_p.T460T|MYO9B_ENST00000397274.2_Silent_p.T460T|CTD-3032J10.2_ENST00000599360.1_RNA|CTD-3032J10.2_ENST00000597216.1_RNA	p.T460T	NM_001130065.1|NM_004145.3	NP_001123537.1|NP_004136.2	Q13459	MYO9B_HUMAN			8	1532	+			460			Myosin head-like.		O75314|Q9NUJ2|Q9UHN0	Silent	SNP	ENST00000594824.1	37	c.1380C>T																																																																																					0.517	MYO9B-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000463236.1			4	20	0	0	0	1	0	4	20					T	17270255	C	T	17270255	2	4	305	1	0	0	0	0	0	0	0	1	10085	639	23	2		2	MYO9B	19	17270255	Silent	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	1903325	17270255	41858728	987	15504											
SLC27A1	376497	broad.mit.edu	37	chr19	17608233	17608233	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aatcggggagttctacggcgCcaccgagtgcaactgcagca	10	6	13	12	4	1	0	0	0	1	0	2	2	1	1	2	3	5	4	2	3	3	2			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:17608233C>T	ENST00000252595.7	+	7	1263	c.1166C>T	c.(1165-1167)gCc>gTc	p.A389V	CTD-3131K8.2_ENST00000596643.1_lincRNA|SLC27A1_ENST00000442725.1_Missense_Mutation_p.A389V|SLC27A1_ENST00000598424.1_Missense_Mutation_p.A210V	NM_198580.1	NP_940982.1	Q6PCB7	S27A1_HUMAN	solute carrier family 27 (fatty acid transporter), member 1	389	Sufficient for oligomerization. {ECO:0000250}.				adiponectin-activated signaling pathway (GO:0033211)|cardiolipin biosynthetic process (GO:0032049)|cellular lipid metabolic process (GO:0044255)|fatty acid metabolic process (GO:0006631)|long-chain fatty acid transport (GO:0015909)|medium-chain fatty acid transport (GO:0001579)|negative regulation of phospholipid biosynthetic process (GO:0071072)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylcholine biosynthetic process (GO:0006656)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phosphatidylglycerol biosynthetic process (GO:0006655)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylserine biosynthetic process (GO:0006659)|positive regulation of heat generation (GO:0031652)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|response to cold (GO:0009409)|response to insulin (GO:0032868)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	fatty acid transporter activity (GO:0015245)|nucleotide binding (GO:0000166)|very long-chain fatty acid-CoA ligase activity (GO:0031957)			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23						TTCTACGGCGCCACCGAGTGC	0.667																																						ENST00000252595.7																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23						c.(1165-1167)gCc>gTc		solute carrier family 27 (fatty acid transporter), member 1							42	37	39					19																	17608233		2203	4300	6503	SO:0001583	missense	376497				cardiolipin biosynthetic process|fatty acid metabolic process|long-chain fatty acid transport|negative regulation of phospholipid biosynthetic process|phosphatidic acid biosynthetic process|phosphatidylcholine biosynthetic process|phosphatidylethanolamine biosynthetic process|phosphatidylinositol biosynthetic process|phosphatidylserine biosynthetic process|transmembrane transport	endomembrane system|integral to membrane	fatty acid transporter activity|nucleotide binding	g.chr19:17608233C>T	BC059399	CCDS32953.1	19p13.11	2013-07-15			ENSG00000130304	ENSG00000130304		"Acyl-CoA synthetase family", "Solute carriers"	10995	protein-coding gene	gene with protein product		600691				10873384	Standard	NM_198580		Approved	FATP1, FATP, MGC71751, FLJ00336, ACSVL5	uc002ngu.1	Q6PCB7	OTTHUMG00000182878	ENST00000252595.7:c.1166C>T	19.37:g.17608233C>T	ENSP00000252595:p.Ala389Val					SLC27A1_ENST00000598424.1_Missense_Mutation_p.A210V|SLC27A1_ENST00000442725.1_Missense_Mutation_p.A389V|CTD-3131K8.2_ENST00000596643.1_lincRNA	p.A389V	NM_198580.1	NP_940982.1	Q6PCB7	S27A1_HUMAN			7	1263	+			389			Sufficient for oligomerization (By similarity).		A6NIH2|B7Z662	Missense_Mutation	SNP	ENST00000252595.7	37	c.1166C>T	CCDS32953.1	.	.	.	.	.	.	.	.	.	.	C	32	5.121438	0.94385	.	.	ENSG00000130304	ENST00000442725;ENST00000252595	T;T	0.40756	1.02;1.02	4.37	4.37	0.52481	AMP-dependent synthetase/ligase (1);	0.058451	0.64402	D	0.000002	T	0.69797	0.3151	M	0.90542	3.125	0.58432	D	0.999998	D;D;D	0.76494	0.999;0.997;0.997	D;D;D	0.75484	0.986;0.973;0.973	T	0.77978	-0.2384	10	0.87932	D	0	-12.1424	14.8201	0.70065	0.0:1.0:0.0:0.0	.	210;389;389	B7Z662;Q6PCB7;B7Z3U1	.;S27A1_HUMAN;.	V	389	ENSP00000413424:A389V;ENSP00000252595:A389V	ENSP00000252595:A389V	A	+	2	0	SLC27A1	17469233	1.000000	0.71417	0.997000	0.53966	0.990000	0.78478	7.234000	0.78134	2.136000	0.66102	0.456000	0.33151	GCC		0.667	SLC27A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464145.1	NM_198580		16	20	0	0	0	1	0	16	20					T	17608233	C	T	17608233	3	4	305	1	0	0	0	0	1	0	0	0	14525	739	26	3	1192	3	SLC27A1	19	17608233	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	337978	17608233	41520750	988	15505											
GLT25D1	79709	broad.mit.edu	37	chr19	17688252	17688252	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggcacaggagatcgagtgccGgctggtggaggccgtggacg	7	5	20	9	4	0	1	0	0	0	1	1	5	0	3	2	7	1	2	2	7	0	0			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:17688252G>A	ENST00000252599.4	+	8	1229	c.1109G>A	c.(1108-1110)cGg>cAg	p.R370Q		NM_024656.2	NP_078932.2	Q8NBJ5	GT251_HUMAN	collagen beta(1-O)galactosyltransferase 1	370					extracellular matrix organization (GO:0030198)|lipopolysaccharide biosynthetic process (GO:0009103)	endoplasmic reticulum lumen (GO:0005788)|membrane (GO:0016020)	procollagen galactosyltransferase activity (GO:0050211)										ATCGAGTGCCGGCTGGTGGAG	0.697																																						ENST00000252599.4																			0											c.(1108-1110)cGg>cAg		collagen beta(1-O)galactosyltransferase 1							4	6	5					19																	17688252		2109	4080	6189	SO:0001583	missense	79709							g.chr19:17688252G>A	AK075541	CCDS12363.1	19p13.11	2013-02-27	2013-02-27	2013-02-27	ENSG00000130309	ENSG00000130309			26182	protein-coding gene	gene with protein product			"glycosyltransferase 25 domain containing 1"	GLT25D1		19075007	Standard	NM_024656		Approved	FLJ22329	uc002nhc.1	Q8NBJ5		ENST00000252599.4:c.1109G>A	19.37:g.17688252G>A	ENSP00000252599:p.Arg370Gln						p.R370Q	NM_024656.2	NP_078932.2					8	1229	+								Q8NC64	Missense_Mutation	SNP	ENST00000252599.4	37	c.1109G>A	CCDS12363.1	.	.	.	.	.	.	.	.	.	.	G	10.89	1.477431	0.26511	.	.	ENSG00000130309	ENST00000379714;ENST00000252599	T	0.76060	-0.99	4.45	-2.49	0.06403	.	0.295081	0.34628	N	0.003817	T	0.53578	0.1805	L	0.34521	1.04	0.20196	N	0.99992	B;B	0.12630	0.001;0.006	B;B	0.13407	0.004;0.009	T	0.31696	-0.9934	10	0.33940	T	0.23	-24.6399	4.3505	0.11153	0.5805:0.0:0.2457:0.1738	.	98;370	E9PC06;Q8NBJ5	.;GT251_HUMAN	Q	98;370	ENSP00000252599:R370Q	ENSP00000252599:R370Q	R	+	2	0	GLT25D1	17549252	0.001000	0.12720	0.037000	0.18230	0.004000	0.04260	0.690000	0.25451	-0.186000	0.10533	-0.293000	0.09583	CGG		0.697	COLGALT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464216.1	NM_024656		3	7	0	0	0	1	0	3	7					A	17688252	G	A	17688252	3	1	305	1	0	0	0	0	1	0	0	0	6466	1116	39	2	1139	2	GLT25D1	19	17688252	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	80019	17688252	41440731	989	15506											
UNC13A	23025	broad.mit.edu	37	chr19	17766855	17766855	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agctggcgggaggctgatgcGtttgaagtctttgggctcag	6	11	17	7	2	2	2	1	2	1	0	2	3	2	3	0	4	2	4	0	4	1	2	rs566299244	byFrequency	TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:17766855G>A	ENST00000519716.2	-	10	1119	c.1120C>T	c.(1120-1122)Cgc>Tgc	p.R374C	UNC13A_ENST00000428389.2_Missense_Mutation_p.R462C|UNC13A_ENST00000550896.1_Missense_Mutation_p.R374C|UNC13A_ENST00000552293.1_Missense_Mutation_p.R374C|UNC13A_ENST00000252773.7_Missense_Mutation_p.R374C|UNC13A_ENST00000551649.1_Missense_Mutation_p.R374C	NM_001080421.2	NP_001073890.2	Q9UPW8	UN13A_HUMAN	unc-13 homolog A (C. elegans)	374					beta-amyloid metabolic process (GO:0050435)|innervation (GO:0060384)|intracellular signal transduction (GO:0035556)|neuromuscular junction development (GO:0007528)|neurotransmitter secretion (GO:0007269)|positive regulation of neurotransmitter secretion (GO:0001956)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission, glutamatergic (GO:0035249)|synaptic vesicle docking involved in exocytosis (GO:0016081)|synaptic vesicle maturation (GO:0016188)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|neuromuscular junction (GO:0031594)|neuron projection (GO:0043005)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)|protein N-terminus binding (GO:0047485)|syntaxin-1 binding (GO:0017075)			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2)	61						AGGCTGATGCGTTTGAAGTCT	0.652													G|||	2	0.000399361	8e-04	0	5008	,	,		17426	0		0	False		,,,				2504	0.001					ENST00000428389.2																			0				breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2)	61						c.(1384-1386)Cgc>Tgc		unc-13 homolog A (C. elegans)							34	40	38					19																	17766855		2131	4195	6326	SO:0001583	missense	23025				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding	g.chr19:17766855G>A	AB028955	CCDS46013.1, CCDS46013.2	19p13.12	2008-02-05				ENSG00000130477			23150	protein-coding gene	gene with protein product		609894					Standard	NM_001080421		Approved	KIAA1032, Munc13-1	uc031rjv.1	Q9UPW8		ENST00000519716.2:c.1120C>T	19.37:g.17766855G>A	ENSP00000429562:p.Arg374Cys					UNC13A_ENST00000519716.2_Missense_Mutation_p.R374C|UNC13A_ENST00000552293.1_Missense_Mutation_p.R374C|UNC13A_ENST00000551649.1_Missense_Mutation_p.R374C|UNC13A_ENST00000550896.1_Missense_Mutation_p.R374C|UNC13A_ENST00000252773.7_Missense_Mutation_p.R374C	p.R462C			Q9UPW8	UN13A_HUMAN			11	1383	-			374					E5RHY9	Missense_Mutation	SNP	ENST00000519716.2	37	c.1384C>T	CCDS46013.2	.	.	.	.	.	.	.	.	.	.	G	14.84	2.654560	0.47467	.	.	ENSG00000130477	ENST00000519716;ENST00000428389;ENST00000252773;ENST00000551649;ENST00000552293;ENST00000550896	T;T;T;T;T;T	0.81247	-1.45;-1.47;-1.45;-1.33;-1.33;-1.45	4.36	3.23	0.37069	.	0.213324	0.30519	U	0.009445	T	0.58637	0.2136	N	0.08118	0	0.35405	D	0.791911	P	0.51537	0.946	B	0.37422	0.249	T	0.72144	-0.4379	10	0.54805	T	0.06	-7.1945	10.7108	0.45982	0.0:0.1947:0.8053:0.0	.	374	Q9UPW8	UN13A_HUMAN	C	374;462;374;374;374;374	ENSP00000429562:R374C;ENSP00000400409:R462C;ENSP00000252773:R374C;ENSP00000447236:R374C;ENSP00000447572:R374C;ENSP00000446831:R374C	ENSP00000252773:R374C	R	-	1	0	UNC13A	17627855	0.036000	0.19791	0.997000	0.53966	0.981000	0.71138	0.219000	0.17641	2.123000	0.65237	0.491000	0.48974	CGC		0.652	UNC13A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000376169.2	XM_038604		3	7	0	0	0	1	0	3	7					A	17766855	G	A	17766855	3	1	305	1	0	0	0	0	1	0	0	0	16981	1145	40	1	4123	1	UNC13A	19	17766855	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	78603	17766855	41362128	990	15507											
LRRC25	126364	broad.mit.edu	37	chr19	18507627	18507627	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tggttgtgaggcaggctcagGctgaggccactgaaattcag	9	9	15	8	0	2	3	2	3	0	0	2	3	2	3	1	5	0	4	1	5	1	2			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:18507627G>A	ENST00000339007.3	-	1	800	c.147C>T	c.(145-147)agC>agT	p.S49S	LRRC25_ENST00000595840.1_Silent_p.S49S	NM_145256.2	NP_660299.2	Q8N386	LRC25_HUMAN	leucine rich repeat containing 25	49						integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(3)|lung(3)|skin(1)	8						GCAGGCTCAGGCTGAGGCCAC	0.607																																						ENST00000339007.3																			0				endometrium(1)|large_intestine(3)|lung(3)|skin(1)	8						c.(145-147)agC>agT		leucine rich repeat containing 25							79	60	67					19																	18507627		2203	4300	6503	SO:0001819	synonymous_variant	126364					integral to membrane		g.chr19:18507627G>A	AK095435	CCDS12377.1	19p13.11	2013-09-20			ENSG00000175489	ENSG00000175489			29806	protein-coding gene	gene with protein product		607518				12384430	Standard	NM_145256		Approved	MAPA, FLJ38116	uc002niw.3	Q8N386	OTTHUMG00000183361	ENST00000339007.3:c.147C>T	19.37:g.18507627G>A						LRRC25_ENST00000595840.1_Silent_p.S49S	p.S49S	NM_145256.2	NP_660299.2	Q8N386	LRC25_HUMAN			1	800	-			49					Q6IQ00|Q8N9A5	Silent	SNP	ENST00000339007.3	37	c.147C>T	CCDS12377.1																																																																																				0.607	LRRC25-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466342.1	NM_145256		14	38	0	0	0	1	0	14	38					A	18507627	G	A	18507627	2	1	305	1	0	0	0	0	0	0	0	1	8980	1194	42	3		3	LRRC25	19	18507627	Silent	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	740772	18507627	40621356	991	15508											
FKBP8	23770	broad.mit.edu	37	chr19	18648497	18648497	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cagggctgcgcggtagtggtCgagcttcagctgcgaggccg	5	7	18	11	5	1	0	1	0	0	0	2	2	1	0	1	4	4	4	1	4	1	2			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:18648497C>T	ENST00000596558.2	-	6	965	c.856G>A	c.(856-858)Gac>Aac	p.D286N	AC005387.2_ENST00000596596.1_RNA|FKBP8_ENST00000597960.3_Missense_Mutation_p.D287N|FKBP8_ENST00000608443.1_Missense_Mutation_p.D287N|FKBP8_ENST00000453489.2_Missense_Mutation_p.D315N|FKBP8_ENST00000610101.1_Missense_Mutation_p.D127N|FKBP8_ENST00000222308.4_Missense_Mutation_p.D286N			Q14318	FKBP8_HUMAN	FK506 binding protein 8, 38kDa	286					apoptotic process (GO:0006915)|camera-type eye development (GO:0043010)|cell fate specification (GO:0001708)|chaperone-mediated protein folding (GO:0061077)|dorsal/ventral neural tube patterning (GO:0021904)|intracellular signal transduction (GO:0035556)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|positive regulation of BMP signaling pathway (GO:0030513)|protein peptidyl-prolyl isomerization (GO:0000413)|regulation of gene expression (GO:0010468)|smoothened signaling pathway (GO:0007224)|viral process (GO:0016032)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)|mitochondrial envelope (GO:0005740)	FK506 binding (GO:0005528)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)	15						CGGTAGTGGTCGAGCTTCAGC	0.607																																						ENST00000597960.2																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)	15						c.(859-861)Gac>Aac		FK506 binding protein 8, 38kDa							82	63	69					19																	18648497		2203	4300	6503	SO:0001583	missense	23770				apoptosis|interspecies interaction between organisms|intracellular signal transduction|protein folding	integral to endoplasmic reticulum membrane|mitochondrial membrane	FK506 binding|peptidyl-prolyl cis-trans isomerase activity|protein binding	g.chr19:18648497C>T	L37033	CCDS32961.1	19p12	2013-01-10	2002-08-29		ENSG00000105701	ENSG00000105701		"Tetratricopeptide (TTC) repeat domain containing"	3724	protein-coding gene	gene with protein product	"FK506-binding protein 8 (38kD)"	604840	"FK506-binding protein 8 (38kD)"			7543869	Standard	NM_012181		Approved	FKBP38, FKBPr38	uc002njj.1	Q14318		ENST00000596558.2:c.856G>A	19.37:g.18648497C>T	ENSP00000472302:p.Asp286Asn					FKBP8_ENST00000596558.1_Missense_Mutation_p.D286N|FKBP8_ENST00000453489.2_Missense_Mutation_p.D315N|FKBP8_ENST00000222308.3_Missense_Mutation_p.D287N|FKBP8_ENST00000544835.2_Missense_Mutation_p.D127N	p.D287N			Q14318	FKBP8_HUMAN			6	979	-			286					C8C9T5|Q53GU3|Q7Z349|Q86YK6	Missense_Mutation	SNP	ENST00000596558.2	37	c.859G>A		.	.	.	.	.	.	.	.	.	.	C	17.80	3.479402	0.63849	.	.	ENSG00000105701	ENST00000222308;ENST00000544835;ENST00000453489	T;T;T	0.39592	1.07;1.07;1.07	4.67	4.67	0.58626	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.103325	0.64402	D	0.000005	T	0.55721	0.1938	L	0.51422	1.61	0.80722	D	1	D;B;B;D	0.89917	1.0;0.153;0.123;0.974	D;B;B;B	0.70227	0.968;0.046;0.06;0.374	T	0.46527	-0.9185	10	0.16420	T	0.52	-37.584	16.792	0.85591	0.0:1.0:0.0:0.0	.	315;230;286;287	B7Z6M0;B2R8G6;Q14318;Q14318-2	.;.;FKBP8_HUMAN;.	N	287;127;315	ENSP00000222308:D287N;ENSP00000441267:D127N;ENSP00000388891:D315N	ENSP00000222308:D287N	D	-	1	0	FKBP8	18509497	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	5.362000	0.66098	2.439000	0.82584	0.644000	0.83932	GAC		0.607	FKBP8-002	KNOWN	alternative_5_UTR|NAGNAG_splice_site|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000466374.3	NM_012181		13	45	0	0	0	1	0	13	45					T	18648497	C	T	18648497	3	4	305	1	0	0	0	0	1	0	0	0	5914	884	31	2	398	2	FKBP8	19	18648497	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	140870	18648497	40480486	992	15509											
C19orf50	79036	broad.mit.edu	37	chr19	18679399	18679399	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cctggctccccagccatcaaCggccgcagccagacagatga	10	4	10	17	2	1	3	1	1	0	2	2	3	2	3	6	2	3	2	6	2	1	0	rs144609970	byFrequency	TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:18679399C>T	ENST00000602094.1	+	5	1949	c.489C>T	c.(487-489)aaC>aaT	p.N163N	KXD1_ENST00000595073.1_Silent_p.N163N|KXD1_ENST00000222307.4_Silent_p.N163N|KXD1_ENST00000601630.1_Silent_p.N182N|KXD1_ENST00000599319.1_Silent_p.N163N|KXD1_ENST00000539106.1_Silent_p.N163N|KXD1_ENST00000540691.1_Silent_p.N163N|AC005253.4_ENST00000593791.1_RNA			Q9BQD3	KXDL1_HUMAN	KxDL motif containing 1	163					vesicle-mediated transport (GO:0016192)	BLOC-1 complex (GO:0031083)											CAGCCATCAACGGCCGCAGCC	0.672													C|||	37	0.00738818	0.0272	0.0014	5008	,	,		17447	0		0	False		,,,				2504	0					ENST00000602094.1																			0											c.(487-489)aaC>aaT		KxDL motif containing 1		C	,,	94,4312	76.8+/-115.0	1,92,2110	76	73	74		489,489,489	-6.7	0.2	19	dbSNP_134	74	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous,coding-synonymous,coding-synonymous	C19orf50	NM_001171948.1,NM_001171949.1,NM_024069.3	,,	1,94,6408	TT,TC,CC		0.0233,2.1335,0.7381	,,	163/177,163/177,163/177	18679399	96,12910	2203	4300	6503	SO:0001819	synonymous_variant	79036						protein binding	g.chr19:18679399C>T	AK098346	CCDS12381.1	19p13.11	2011-11-24	2011-11-24	2011-11-24	ENSG00000105700	ENSG00000105700			28420	protein-coding gene	gene with protein product		615178	"chromosome 19 open reading frame 50"	C19orf50		21159114	Standard	NM_001171948		Approved	FLJ25480, MGC2749, KXDL	uc002njo.3	Q9BQD3		ENST00000602094.1:c.489C>T	19.37:g.18679399C>T						KXD1_ENST00000599319.1_Silent_p.N163N|KXD1_ENST00000601630.1_Silent_p.N182N|KXD1_ENST00000222307.4_Silent_p.N163N|AC005253.4_ENST00000593791.1_RNA|KXD1_ENST00000540691.1_Silent_p.N163N|KXD1_ENST00000595073.1_Silent_p.N163N|KXD1_ENST00000539106.1_Silent_p.N163N	p.N163N			Q9BQD3	CS050_HUMAN			5	1949	+			163					O76098	Silent	SNP	ENST00000602094.1	37	c.489C>T	CCDS12381.1																																																																																				0.672	KXD1-003	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465107.1	NM_024069		30	92	0	0	0	1	0	30	92					T	18679399	C	T	18679399	2	4	305	1	0	0	0	0	0	0	0	1	1932	535	19	1		1	C19orf50	19	18679399	Silent	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	30902	18679399	40449584	993	15510											
CRTC1	23373	broad.mit.edu	37	chr19	18888096	18888096	+	Frame_Shift_Del	DEL	C	C	-																															ctggacgaactcaagatcgaCcccctgaccctcgacggact																										TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:18888096delC	ENST00000321949.8	+	14	1835	c.1809delC	c.(1807-1809)gacfs	p.D603fs	CRTC1_ENST00000601916.1_Frame_Shift_Del_p.D361fs|CRTC1_ENST00000338797.6_Frame_Shift_Del_p.D619fs|CRTC1_ENST00000594658.1_Frame_Shift_Del_p.D562fs	NM_015321.2	NP_056136.2			CREB regulated transcription coactivator 1										CRTC1/MAML2(516)	NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|skin(1)	19						TCAAGATCGACCCCCTGACCC	0.642																																						ENST00000338797.6																		CRTC1/MAML2(516)	0				NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|skin(1)	19						c.(1855-1857)gafs		CREB regulated transcription coactivator 1							196	209	205					19																	18888096		2203	4300	6503	SO:0001589	frameshift_variant	23373				interspecies interaction between organisms|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	cAMP response element binding protein binding|protein binding	g.chr19:18888096delC	AY040323	CCDS32963.1, CCDS42525.1	19p13	2012-07-31	2005-11-24	2005-11-24					16062	protein-coding gene	gene with protein product	"transducer of regulated cAMP response element-binding protein"	607536	"mucoepidermoid carcinoma translocated 1"	MECT1		12539049, 14536081, 14506290	Standard	NM_015321		Approved	KIAA0616, FLJ14027, TORC1	uc010ebv.3	Q6UUV9		ENST00000321949.8:c.1809delC	19.37:g.18888096delC	ENSP00000323332:p.Asp603fs					CRTC1_ENST00000594658.1_Frame_Shift_Del_p.D562fs|CRTC1_ENST00000601916.1_Frame_Shift_Del_p.D361fs|CRTC1_ENST00000321949.8_Frame_Shift_Del_p.D603fs	p.D619fs	NM_001098482.1	NP_001091952.1	Q6UUV9	CRTC1_HUMAN			15	1882	+			603						Frame_Shift_Del	DEL	ENST00000321949.8	37	c.1857delC	CCDS32963.1																																																																																				0.642	CRTC1-002	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465151.3	NM_025021		17	567						17	567	---	---	---	---	-	18888096	C	-	18888096	7	5	305	1	0	1	0	1	0	0	0	0	3899	506	18	0	1915	0	CRTC1	19	18888096	Frame_Shift_Del	DEL	C	TCGA-KK-A59V-01A-11D-A29Q-08	208697	18888096	40240887	994	15511											
ZNF708	7562	broad.mit.edu	37	chr19	21476363	21476363	+	Frame_Shift_Del	DEL	T	T	-																															gggtttctctccagtatgaaTttttttatgattagtaaaat																										TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:21476363delT	ENST00000356929.3	-	4	1602	c.1405delA	c.(1405-1407)attfs	p.I469fs		NM_021269.2	NP_067092.2	P17019	ZN708_HUMAN	zinc finger protein 708	405					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|skin(2)|stomach(1)	32						CCAGTATGAATTTTTTTATGA	0.313																																						ENST00000356929.3																			0				breast(1)|central_nervous_system(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|skin(2)|stomach(1)	32						c.(1405-1407)ttfs		zinc finger protein 708							25	28	27					19																	21476363		2186	4270	6456	SO:0001589	frameshift_variant	7562				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:21476363delT	X52339	CCDS32980.1	19p12	2014-02-14	2006-08-22	2005-08-16	ENSG00000182141	ENSG00000182141		"Zinc fingers, C2H2-type", "-"	12945	protein-coding gene	gene with protein product			"zinc finger protein 15-like 1 (KOX 8)", "zinc finger protein 708", "zinc finger protein 708 (KOX8)"	ZNF15, ZNF15L1		2014798	Standard	NM_021269		Approved	KOX8	uc002npq.1	P17019	OTTHUMG00000182841	ENST00000356929.3:c.1405delA	19.37:g.21476363delT	ENSP00000349401:p.Ile469fs						p.I469fs	NM_021269.2	NP_067092.2	P17019	ZN708_HUMAN			4	1602	-			469					Q6ZMR0	Frame_Shift_Del	DEL	ENST00000356929.3	37	c.1405delA	CCDS32980.1																																																																																				0.313	ZNF708-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463953.1	NM_021269		13	32						13	32	---	---	---	---	-	21476363	T	-	21476363	7	5	305	1	0	1	0	1	0	0	0	0	18109	1493	52	0	290	0	ZNF708	19	21476363	Frame_Shift_Del	DEL	T	TCGA-KK-A59V-01A-11D-A29Q-08	2588267	21476363	37652620	995	15512											
RHPN2	85415	broad.mit.edu	37	chr19	33487111	33487111	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cgtgatgagccatggctctgCgcaagtgggacttccctgca	7	9	13	12	2	1	2	0	2	1	0	2	3	2	3	2	2	3	3	2	2	1	1	rs564794525	byFrequency	TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:33487111C>T	ENST00000254260.3	-	11	1276	c.1241G>A	c.(1240-1242)cGc>cAc	p.R414H	RHPN2_ENST00000400226.4_Missense_Mutation_p.R263H	NM_033103.4	NP_149094.3	Q8IUC4	RHPN2_HUMAN	rhophilin, Rho GTPase binding protein 2	414	BRO1. {ECO:0000255|PROSITE- ProRule:PRU00526}.			HLRRAMA -> TCADHG (in Ref. 2; AAK58588). {ECO:0000305}.	signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)				NS(1)|breast(3)|central_nervous_system(5)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(3)|skin(3)|urinary_tract(1)	44	Esophageal squamous(110;0.137)					CATGGCTCTGCGCAAGTGGGA	0.607													C|||	10	0.00199681	0	0	5008	,	,		16807	0.0099		0	False		,,,				2504	0					ENST00000254260.3																			0				NS(1)|breast(3)|central_nervous_system(5)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(3)|skin(3)|urinary_tract(1)	44						c.(1240-1242)cGc>cAc		rhophilin, Rho GTPase binding protein 2							45	43	44					19																	33487111		2203	4300	6503	SO:0001583	missense	85415				signal transduction	perinuclear region of cytoplasm	protein binding	g.chr19:33487111C>T	AF268032	CCDS12427.1	19q13.12	2008-02-05				ENSG00000131941			19974	protein-coding gene	gene with protein product						12221077	Standard	NM_033103		Approved		uc002nuf.3	Q8IUC4		ENST00000254260.3:c.1241G>A	19.37:g.33487111C>T	ENSP00000254260:p.Arg414His					RHPN2_ENST00000400226.4_Missense_Mutation_p.R263H	p.R414H	NM_033103.4	NP_149094.3	Q8IUC4	RHPN2_HUMAN			11	1276	-	Esophageal squamous(110;0.137)		414	HLRRAMA -> TCADHG (in Ref. 2; AAK58588).		BRO1.		B2RCG8|B3KUY8|B4DUS7|Q8N3T7|Q8N9D6|Q8NE33|Q96RU1	Missense_Mutation	SNP	ENST00000254260.3	37	c.1241G>A	CCDS12427.1	.	.	.	.	.	.	.	.	.	.	C	7.658	0.684344	0.14907	.	.	ENSG00000131941	ENST00000254260;ENST00000544458;ENST00000400226	T;T	0.19806	2.12;2.12	4.86	-1.38	0.09027	BRO1 domain (3);	0.492334	0.25929	N	0.027394	T	0.13798	0.0334	L	0.45470	1.425	0.24424	N	0.994604	B	0.18166	0.026	B	0.17098	0.017	T	0.13548	-1.0505	10	0.40728	T	0.16	-0.122	3.7656	0.08622	0.4409:0.3399:0.0:0.2192	.	414	Q8IUC4	RHPN2_HUMAN	H	414;144;263	ENSP00000254260:R414H;ENSP00000402244:R263H	ENSP00000254260:R414H	R	-	2	0	RHPN2	38178951	0.029000	0.19370	0.006000	0.13384	0.054000	0.15201	0.055000	0.14229	-0.470000	0.06901	0.585000	0.79938	CGC		0.607	RHPN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450828.2	NM_033103		19	48	0	0	0	1	0	19	48					T	33487111	C	T	33487111	3	4	305	1	0	0	0	0	1	0	0	0	13351	768	27	1	839	1	RHPN2	19	33487111	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	12010748	33487111	25641872	996	15513											
ZNF599	148103	broad.mit.edu	37	chr19	35250723	35250723	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagtatgaatcctcatatgtTgagcaaatgaggagctgtag	13	11	11	6	0	1	3	1	3	0	0	2	4	2	4	1	1	2	5	1	1	5	4			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:35250723T>C	ENST00000329285.8	-	4	1356	c.983A>G	c.(982-984)cAa>cGa	p.Q328R		NM_001007248.2	NP_001007249.1	Q96NL3	ZN599_HUMAN	zinc finger protein 599	328					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|large_intestine(10)|lung(8)|ovary(1)|pancreas(1)|skin(1)	24	all_lung(56;1.13e-07)|Lung NSC(56;1.81e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.138)			CCTCATATGTTGAGCAAATGA	0.428																																						ENST00000329285.7																			0				endometrium(3)|large_intestine(10)|lung(8)|ovary(1)|pancreas(1)|skin(1)	24						c.(982-984)cAa>cGa		zinc finger protein 599							61	61	61					19																	35250723		2203	4300	6503	SO:0001583	missense	148103				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:35250723T>C	AK055225	CCDS32991.1	19q13.13	2013-01-08				ENSG00000153896		"Zinc fingers, C2H2-type", "-"	26408	protein-coding gene	gene with protein product							Standard	NM_001007248		Approved	FLJ30663	uc010edn.1	Q96NL3		ENST00000329285.8:c.983A>G	19.37:g.35250723T>C	ENSP00000333802:p.Gln328Arg						p.Q328R	NM_001007248.2	NP_001007249.1	Q96NL3	ZN599_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.138)		4	1356	-	all_lung(56;1.13e-07)|Lung NSC(56;1.81e-07)|Esophageal squamous(110;0.162)		328					Q569K0|Q5PRG1	Missense_Mutation	SNP	ENST00000329285.8	37	c.983A>G	CCDS32991.1	.	.	.	.	.	.	.	.	.	.	T	0.003	-2.535434	0.00143	.	.	ENSG00000153896	ENST00000392231;ENST00000329285;ENST00000392229	T	0.11495	2.77	2.9	0.773	0.18516	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.03390	0.0098	N	0.02111	-0.68	0.09310	N	1	B	0.20887	0.049	B	0.26517	0.07	T	0.48055	-0.9068	9	0.09590	T	0.72	.	5.8416	0.18637	0.0:0.2584:0.0:0.7416	.	328	Q96NL3	ZN599_HUMAN	R	327;328;102	ENSP00000333802:Q328R	ENSP00000333802:Q328R	Q	-	2	0	ZNF599	39942563	0.000000	0.05858	0.003000	0.11579	0.422000	0.31414	-4.221000	0.00271	0.101000	0.17610	0.402000	0.26972	CAA		0.428	ZNF599-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460648.2	XM_086046		19	47	0	0	0	1	0	19	47					C	35250723	T	C	35250723	3	2	305	1	0	0	0	0	1	0	0	0	18026	1812	63	4	787	4	ZNF599	19	35250723	Missense_Mutation	SNP	T	TCGA-KK-A59V-01A-11D-A29Q-08	1763612	35250723	23878260	997	15514											
HPN	3249	broad.mit.edu	37	chr19	35556186	35556186	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgtgtgcctcccagctgccGgccaggccctggtggatggc	3	8	15	15	1	0	0	0	0	0	0	1	1	1	1	5	5	3	1	5	5	0	0	rs540599600	byFrequency	TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:35556186G>A	ENST00000262626.2	+	10	1669	c.844G>A	c.(844-846)Ggc>Agc	p.G282S	HPN_ENST00000392226.1_Missense_Mutation_p.G282S|HPN_ENST00000597419.1_Missense_Mutation_p.G124S|HPN-AS1_ENST00000392227.2_RNA	NM_182983.2	NP_892028.1	P05981	HEPS_HUMAN	hepsin	282	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				basement membrane disassembly (GO:0034769)|cholesterol homeostasis (GO:0042632)|cochlea morphogenesis (GO:0090103)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|epithelium development (GO:0060429)|negative regulation of alkaline phosphatase activity (GO:0010693)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|pilomotor reflex (GO:0097195)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of cell growth (GO:0030307)|positive regulation of gene expression (GO:0010628)|positive regulation of hepatocyte proliferation (GO:2000347)|positive regulation of plasminogen activation (GO:0010756)|positive regulation of thyroid hormone generation (GO:2000611)|potassium ion transmembrane transport (GO:0071805)|proteolysis (GO:0006508)|regulation of cell shape (GO:0008360)|response to thyroid hormone (GO:0097066)	cell surface (GO:0009986)|cell-cell junction (GO:0005911)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	calcium-activated potassium channel activity (GO:0015269)|peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)|serine-type exopeptidase activity (GO:0070008)|serine-type peptidase activity (GO:0008236)			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(6)|ovary(2)|upper_aerodigestive_tract(2)	19	all_lung(56;5.38e-08)|Lung NSC(56;8.61e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)		Coagulation factor VIIa(DB00036)	CCCAGCTGCCGGCCAGGCCCT	0.617													G|||	3	0.000599042	0	0	5008	,	,		19026	0.001		0	False		,,,				2504	0.002					ENST00000262626.2																			0				central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(6)|ovary(2)|upper_aerodigestive_tract(2)	19						c.(844-846)Ggc>Agc		hepsin	Coagulation factor VIIa(DB00036)						81	66	71					19																	35556186		2203	4300	6503	SO:0001583	missense	3249				cell growth|proteolysis	cytoplasm|integral to plasma membrane	scavenger receptor activity|serine-type endopeptidase activity	g.chr19:35556186G>A		CCDS32993.1	19q13.12	2013-04-25	2008-12-08		ENSG00000105707	ENSG00000105707		"Serine peptidases / Transmembrane"	5155	protein-coding gene	gene with protein product	"transmembrane protease, serine 1"	142440				2835076	Standard	NM_182983		Approved	TMPRSS1	uc002nxq.2	P05981	OTTHUMG00000182474	ENST00000262626.2:c.844G>A	19.37:g.35556186G>A	ENSP00000262626:p.Gly282Ser					HPN-AS1_ENST00000392227.2_RNA|HPN_ENST00000597419.1_Missense_Mutation_p.G124S|HPN_ENST00000392226.1_Missense_Mutation_p.G282S	p.G282S	NM_182983.2	NP_892028.1	P05981	HEPS_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0849)		10	1669	+	all_lung(56;5.38e-08)|Lung NSC(56;8.61e-08)|Esophageal squamous(110;0.162)		282			Peptidase S1.		B2RDS4	Missense_Mutation	SNP	ENST00000262626.2	37	c.844G>A	CCDS32993.1	.	.	.	.	.	.	.	.	.	.	G	25.3	4.627718	0.87560	.	.	ENSG00000105707	ENST00000262626;ENST00000392226;ENST00000541345	D;D	0.87887	-2.31;-2.31	5.24	5.24	0.73138	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.85682	D	0.000000	D	0.86781	0.6015	N	0.05487	-0.04	0.80722	D	1	D;D;D	0.89917	1.0;0.996;1.0	D;P;D	0.85130	0.991;0.901;0.997	D	0.89701	0.3905	10	0.62326	D	0.03	.	16.3153	0.82918	0.0:0.0:1.0:0.0	.	254;282;282	B7Z1L4;B2ZDQ2;P05981	.;.;HEPS_HUMAN	S	282;282;254	ENSP00000262626:G282S;ENSP00000376060:G282S	ENSP00000262626:G282S	G	+	1	0	HPN	40248026	0.996000	0.38824	0.900000	0.35374	0.947000	0.59692	2.532000	0.45659	2.455000	0.83008	0.555000	0.69702	GGC		0.617	HPN-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461573.1	NM_002151		15	52	0	0	0	1	0	15	52					A	35556186	G	A	35556186	3	1	305	1	0	0	0	0	1	0	0	0	7336	1116	39	2	878	2	HPN	19	35556186	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	305463	35556186	23572797	998	15515											
MLL4	9757	broad.mit.edu	37	chr19	36229230	36229230	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgactttgatgtagtggaCgccacgatgcatggcaatgc	10	10	13	8	2	0	2	0	2	0	0	0	5	0	3	1	2	2	3	1	2	2	2			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:36229230C>T	ENST00000222270.7	+	37	7920	c.7920C>T	c.(7918-7920)gaC>gaT	p.D2640D	IGFLR1_ENST00000587101.1_5'Flank|KMT2B_ENST00000420124.1_Silent_p.D2640D|KMT2B_ENST00000607650.1_RNA	NM_014727.1	NP_055542.1	Q9UMN6	KMT2B_HUMAN	lysine (K)-specific methyltransferase 2B	2640	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				chromatin-mediated maintenance of transcription (GO:0048096)|gene silencing (GO:0016458)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|oocyte differentiation (GO:0009994)|ovarian follicle development (GO:0001541)|ovulation (GO:0030728)|regulation of histone H3-K4 methylation (GO:0051569)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)										ATGTAGTGGACGCCACGATGC	0.582																																						ENST00000420124.1																			0											c.(7918-7920)gaC>gaT									77	85	82					19																	36229230		2196	4297	6493	SO:0001819	synonymous_variant	0							g.chr19:36229230C>T	AJ007041	CCDS46055.1	19q13.1	2014-02-18			ENSG00000105663	ENSG00000272333		"Chromatin-modifying enzymes / K-methyltransferases"	15840	protein-coding gene	gene with protein product	"myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila) 4"	606834				10409430, 10637508	Standard	XM_006723513		Approved	KIAA0304, MLL2, TRX2, HRX2, WBP7, MLL1B, MLL4		Q9UMN6	OTTHUMG00000048119	ENST00000222270.7:c.7920C>T	19.37:g.36229230C>T						WBP7_ENST00000222270.7_Silent_p.D2640D|KMT2B_ENST00000607650.1_RNA	p.D2640D							37	7920	+								O15022|O95836|Q96GP2|Q96IP3|Q9UK25|Q9Y668|Q9Y669	Silent	SNP	ENST00000222270.7	37	c.7920C>T	CCDS46055.1																																																																																				0.582	KMT2B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_014727		11	27	0	0	0	1	0	11	27					T	36229230	C	T	36229230	2	4	305	1	0	0	0	0	0	0	0	1	9623	535	19	1		1	MLL4	19	36229230	Silent	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	673044	36229230	22899753	999	15516											
SIPA1L3	23094	broad.mit.edu	37	chr19	38597179	38597179	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctggcatttctgtttcagccGactccacgggaacccactcc	7	10	8	16	2	2	0	1	0	1	0	4	2	4	1	4	2	2	2	4	2	1	2	rs368555030		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:38597179G>A	ENST00000222345.6	+	7	2541	c.2032G>A	c.(2032-2034)Gac>Aac	p.D678N	CTC-450M9.1_ENST00000599092.1_RNA	NM_015073.1	NP_055888.1	O60292	SI1L3_HUMAN	signal-induced proliferation-associated 1 like 3	678	Rap-GAP. {ECO:0000255|PROSITE- ProRule:PRU00165}.				hematopoietic progenitor cell differentiation (GO:0002244)|regulation of small GTPase mediated signal transduction (GO:0051056)	extracellular space (GO:0005615)	GTPase activator activity (GO:0005096)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			TGTTTCAGCCGACTCCACGGG	0.507																																						ENST00000222345.6																			0				NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59						c.(2032-2034)Gac>Aac		signal-induced proliferation-associated 1 like 3		G	ASN/ASP	1,4405	2.1+/-5.4	0,1,2202	161	134	143		2032	5.2	1	19		143	0,8600		0,0,4300	no	missense	SIPA1L3	NM_015073.1	23	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	possibly-damaging	678/1782	38597179	1,13005	2203	4300	6503	SO:0001583	missense	23094				regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity	g.chr19:38597179G>A	AB011117	CCDS33007.1	19q13.13	2008-02-05			ENSG00000105738	ENSG00000105738			23801	protein-coding gene	gene with protein product							Standard	XM_005258671		Approved	KIAA0545	uc002ohk.3	O60292	OTTHUMG00000073727	ENST00000222345.6:c.2032G>A	19.37:g.38597179G>A	ENSP00000222345:p.Asp678Asn						p.D678N	NM_015073.1	NP_055888.1	O60292	SI1L3_HUMAN	Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)		7	2541	+			678			Rap-GAP.		Q2TV87	Missense_Mutation	SNP	ENST00000222345.6	37	c.2032G>A	CCDS33007.1	.	.	.	.	.	.	.	.	.	.	G	28.6	4.935176	0.92458	2.27E-4	0.0	ENSG00000105738	ENST00000222345	D	0.93712	-3.27	5.15	5.15	0.70609	Rap/ran-GAP (2);	0.049241	0.85682	D	0.000000	D	0.91751	0.7391	L	0.49513	1.565	0.58432	D	0.999999	B	0.15141	0.012	B	0.21708	0.036	D	0.88806	0.3288	10	0.87932	D	0	-45.9503	17.552	0.87879	0.0:0.0:1.0:0.0	.	678	O60292	SI1L3_HUMAN	N	678	ENSP00000222345:D678N	ENSP00000222345:D678N	D	+	1	0	SIPA1L3	43289019	1.000000	0.71417	0.970000	0.41538	0.666000	0.39218	9.636000	0.98440	2.692000	0.91855	0.655000	0.94253	GAC		0.507	SIPA1L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000156294.2	XM_032278		26	87	0	0	0	1	0	26	87					A	38597179	G	A	38597179	3	1	305	1	0	0	0	0	1	0	0	0	14331	1058	37	2	2050	2	SIPA1L3	19	38597179	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	2367949	38597179	20531804	1000	15517											
YIF1B	90522	broad.mit.edu	37	chr19	38798088	38798088	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	catgaacacaaagatggctaCgcagcaccagcccagcacca	15	3	8	15	1	0	2	0	1	0	1	0	2	0	2	3	1	5	4	3	1	3	1	rs370851309		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:38798088C>T	ENST00000339413.6	-	7	814	c.769G>A	c.(769-771)Gta>Ata	p.V257I	YIF1B_ENST00000592246.1_Missense_Mutation_p.V191I|YIF1B_ENST00000591784.1_Missense_Mutation_p.V226I|YIF1B_ENST00000337679.8_Missense_Mutation_p.V254I|YIF1B_ENST00000392124.3_Missense_Mutation_p.V226I|YIF1B_ENST00000592694.1_Missense_Mutation_p.V226I|YIF1B_ENST00000591755.1_Missense_Mutation_p.V254I|YIF1B_ENST00000587361.1_5'Flank|YIF1B_ENST00000329420.8_Missense_Mutation_p.V242I	NM_001039672.2|NM_001039673.2	NP_001034761.1|NP_001034762.1	Q5BJH7	YIF1B_HUMAN	Yip1 interacting factor homolog B (S. cerevisiae)	257						integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|prostate(1)	10	all_cancers(60;1.07e-06)		Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			AAGATGGCTACGCAGCACCAG	0.622																																						ENST00000392124.3																			0				central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|prostate(1)	10						c.(676-678)Gta>Ata		Yip1 interacting factor homolog B (S. cerevisiae)		C	ILE/VAL,ILE/VAL,ILE/VAL,ILE/VAL,ILE/VAL,ILE/VAL,ILE/VAL	0,4406		0,0,2203	85	74	78		724,769,760,718,676,760,676	-0.6	0.2	19		78	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense,missense,missense,missense	YIF1B	NM_001039671.2,NM_001039672.2,NM_001039673.2,NM_001145461.1,NM_001145462.1,NM_001145463.1,NM_033557.3	29,29,29,29,29,29,29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign,benign,benign,benign,benign,benign,benign	242/300,257/315,254/312,240/298,226/284,254/292,226/284	38798088	1,13005	2203	4300	6503	SO:0001583	missense	90522					integral to membrane		g.chr19:38798088C>T	AL833382	CCDS12512.1, CCDS33010.1, CCDS46066.1, CCDS46067.1	19q13.2	2008-02-05							30511	protein-coding gene	gene with protein product						12975309	Standard	NM_001039672		Approved	FinGER8	uc002ohz.2	Q5BJH7		ENST00000339413.6:c.769G>A	19.37:g.38798088C>T	ENSP00000343435:p.Val257Ile					YIF1B_ENST00000339413.6_Missense_Mutation_p.V257I|YIF1B_ENST00000591755.1_Missense_Mutation_p.V254I|YIF1B_ENST00000329420.8_Missense_Mutation_p.V242I|YIF1B_ENST00000592694.1_Missense_Mutation_p.V226I|YIF1B_ENST00000591784.1_Missense_Mutation_p.V226I|YIF1B_ENST00000592246.1_Missense_Mutation_p.V191I|YIF1B_ENST00000337679.8_Missense_Mutation_p.V254I	p.V226I	NM_033557.3	NP_291035.1	Q5BJH7	YIF1B_HUMAN	Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)		6	990	-	all_cancers(60;1.07e-06)		257					H7BXS8|Q5JPC2|Q8WY70|Q96C02|Q96IC4	Missense_Mutation	SNP	ENST00000339413.6	37	c.676G>A	CCDS33010.1	.	.	.	.	.	.	.	.	.	.	C	6.027	0.373271	0.11409	0.0	1.16E-4	ENSG00000167645	ENST00000339413;ENST00000329420;ENST00000392124;ENST00000337679	T;T;T;T	0.80566	-1.39;-1.39;-1.39;-1.39	5.66	-0.566	0.11767	.	0.271749	0.35838	N	0.002953	T	0.49218	0.1544	N	0.02765	-0.5	0.09310	N	1	B;B;B;B;B	0.19706	0.003;0.038;0.024;0.001;0.0	B;B;B;B;B	0.12837	0.002;0.004;0.008;0.007;0.001	T	0.40757	-0.9546	10	0.12766	T	0.61	-14.684	5.5783	0.17235	0.0:0.4878:0.1321:0.3801	.	226;254;254;257;254	Q5BJH7-2;Q5BJH7-5;Q5BJH7-4;Q5BJH7;Q5BJH7-3	.;.;.;YIF1B_HUMAN;.	I	257;242;226;254	ENSP00000343435:V257I;ENSP00000329559:V242I;ENSP00000375971:V226I;ENSP00000337411:V254I	ENSP00000329559:V242I	V	-	1	0	YIF1B	43489928	0.000000	0.05858	0.207000	0.23584	0.506000	0.33950	-0.231000	0.09069	-0.184000	0.10567	0.555000	0.69702	GTA		0.622	YIF1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460511.1	NM_033557		8	31	0	0	0	1	0	8	31					T	38798088	C	T	38798088	3	4	305	1	0	0	0	0	1	0	0	0	17473	536	19	1	264	1	YIF1B	19	38798088	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	200909	38798088	20330895	1001	15518											
RYR1	6261	broad.mit.edu	37	chr19	38976306	38976306	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acaccctgcgcctctaccgcGctgtgtgcgccctgggcaac	5	7	11	18	4	1	0	0	0	1	0	1	0	1	0	4	1	4	2	4	1	2	1			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:38976306G>A	ENST00000359596.3	+	34	5011	c.5011G>A	c.(5011-5013)Gct>Act	p.A1671T	RYR1_ENST00000355481.4_Missense_Mutation_p.A1671T|RYR1_ENST00000360985.3_Missense_Mutation_p.A1671T			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	1671	6 X approximate repeats.				calcium ion transport (GO:0006816)|cellular response to caffeine (GO:0071313)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|ossification involved in bone maturation (GO:0043931)|outflow tract morphogenesis (GO:0003151)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|skeletal muscle fiber development (GO:0048741)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|integral component of plasma membrane (GO:0005887)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|voltage-gated calcium channel activity (GO:0005245)			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	CCTCTACCGCGCTGTGTGCGC	0.667																																						ENST00000355481.4																			0				NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285						c.(5011-5013)Gct>Act		ryanodine receptor 1 (skeletal)	Dantrolene(DB01219)						46	44	45					19																	38976306		2202	4295	6497	SO:0001583	missense	6261				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr19:38976306G>A	J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"Ion channels / Ryanodine receptors"	10483	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 137"	180901	"central core disease of muscle"	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.5011G>A	19.37:g.38976306G>A	ENSP00000352608:p.Ala1671Thr					RYR1_ENST00000360985.3_Missense_Mutation_p.A1671T|RYR1_ENST00000359596.3_Missense_Mutation_p.A1671T	p.A1671T	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		34	5142	+	all_cancers(60;7.91e-06)		1671			6 X approximate repeats.		Q16314|Q16368|Q9NPK1|Q9P1U4	Missense_Mutation	SNP	ENST00000359596.3	37	c.5011G>A	CCDS33011.1	.	.	.	.	.	.	.	.	.	.	G	15.06	2.719763	0.48728	.	.	ENSG00000196218	ENST00000359596;ENST00000355481;ENST00000360985	D;D;D	0.97505	-4.41;-4.41;-4.41	4.07	1.78	0.24846	.	0.440024	0.19570	U	0.111113	D	0.97570	0.9204	M	0.81341	2.54	0.25419	N	0.988285	D;D	0.65815	0.995;0.991	P;P	0.57502	0.744;0.822	D	0.93584	0.6915	10	0.87932	D	0	.	11.8354	0.52321	0.0:0.0:0.4032:0.5968	.	1671;1671	P21817-2;P21817	.;RYR1_HUMAN	T	1671	ENSP00000352608:A1671T;ENSP00000347667:A1671T;ENSP00000354254:A1671T	ENSP00000347667:A1671T	A	+	1	0	RYR1	43668146	1.000000	0.71417	0.830000	0.32933	0.915000	0.54546	3.001000	0.49488	0.297000	0.22615	0.650000	0.86243	GCT		0.667	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1			30	74	0	0	0	1	0	30	74					A	38976306	G	A	38976306	3	1	305	1	0	0	0	0	1	0	0	0	13768	1087	38	1	5145	1	RYR1	19	38976306	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	178218	38976306	20152677	1002	15519											
IL28A	282616	broad.mit.edu	37	chr19	39759380	39759380	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agtgctgaccgtgactggagCagttcctgtcgccaggctcc	6	9	13	13	2	0	2	0	2	0	0	3	3	2	3	4	2	2	4	4	2	0	1			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:39759380C>T	ENST00000331982.5	+	2	129	c.74C>T	c.(73-75)gCa>gTa	p.A25V		NM_172138.1	NP_742150.1	Q8IZJ0	IFNL2_HUMAN	interferon, lambda 2	25					defense response to virus (GO:0051607)|JAK-STAT cascade (GO:0007259)|mucosal immune response (GO:0002385)|positive regulation of immune response (GO:0050778)	extracellular space (GO:0005615)											GTGACTGGAGCAGTTCCTGTC	0.617																																						ENST00000331982.5																			0											c.(73-75)gCa>gTa		interferon, lambda 2							51	55	53					19																	39759380		2200	4300	6500	SO:0001583	missense	282616							g.chr19:39759380C>T	AY129148	CCDS42567.1	19q13.13	2014-05-22	2012-11-26	2012-11-26	ENSG00000183709	ENSG00000183709		"Interferons"	18364	protein-coding gene	gene with protein product		607401	"interleukin 28A", "interleukin 28A (interferon, lambda 2)"	IL28A			Standard	NM_172138		Approved	IL-28A	uc002oku.1	Q8IZJ0		ENST00000331982.5:c.74C>T	19.37:g.39759380C>T	ENSP00000333639:p.Ala25Val						p.A25V	NM_172138.1	NP_742150.1					2	129	+								Q45KQ8|Q6VN55|Q8IWL7	Missense_Mutation	SNP	ENST00000331982.5	37	c.74C>T	CCDS42567.1	.	.	.	.	.	.	.	.	.	.	C	16.23	3.065560	0.55539	.	.	ENSG00000183709	ENST00000331982	T	0.18338	2.22	2.97	0.373	0.16178	.	0.382406	0.21911	N	0.067309	T	0.20210	0.0486	M	0.76002	2.32	0.09310	N	1	B	0.31209	0.313	B	0.37780	0.258	T	0.19811	-1.0294	10	0.87932	D	0	1.7974	4.7068	0.12853	0.2527:0.5:0.2472:0.0	.	25	Q8IZJ0	IL28A_HUMAN	V	25	ENSP00000333639:A25V	ENSP00000333639:A25V	A	+	2	0	IL28A	44451220	0.000000	0.05858	0.004000	0.12327	0.229000	0.25112	0.104000	0.15313	0.549000	0.28973	0.195000	0.17529	GCA		0.617	IFNL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463833.1	NM_172138		5	45	0	0	0	1	0	5	45					T	39759380	C	T	39759380	3	4	305	1	0	0	0	0	1	0	0	0	7682	710	25	3	80	3	IL28A	19	39759380	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	783074	39759380	19369603	1003	15520											
DLL3	10683	broad.mit.edu	37	chr19	39994903	39994903	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggccctgtgacgggaaccCgtgtgccaatggaggcagct	7	7	16	11	2	0	1	0	1	0	0	0	3	0	3	3	4	3	2	3	4	2	0	rs368487646		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:39994903C>T	ENST00000205143.4	+	5	852	c.845C>T	c.(844-846)cCg>cTg	p.P282L	DLL3_ENST00000356433.5_Missense_Mutation_p.P282L	NM_016941.3	NP_058637.1	Q9NYJ7	DLL3_HUMAN	delta-like 3 (Drosophila)	282	EGF-like 2. {ECO:0000255|PROSITE- ProRule:PRU00076}.				compartment pattern specification (GO:0007386)|negative regulation of neurogenesis (GO:0050768)|Notch signaling pathway (GO:0007219)|paraxial mesoderm development (GO:0048339)|skeletal system development (GO:0001501)|somitogenesis (GO:0001756)	integral component of membrane (GO:0016021)	Notch binding (GO:0005112)			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(7)	19	all_cancers(60;4.04e-06)|all_lung(34;1.77e-07)|Lung NSC(34;2.09e-07)|all_epithelial(25;1.13e-05)|Ovarian(47;0.159)		Epithelial(26;5.89e-26)|all cancers(26;1.96e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			GACGGGAACCCGTGTGCCAAT	0.647																																						ENST00000205143.4																			0				breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(7)	19						c.(844-846)cCg>cTg		delta-like 3 (Drosophila)		C	LEU/PRO,LEU/PRO	0,4406		0,0,2203	84	71	75		845,845	4.3	1	19		75	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	DLL3	NM_016941.3,NM_203486.2	98,98	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging	282/619,282/588	39994903	1,13005	2203	4300	6503	SO:0001583	missense	10683				Notch signaling pathway|skeletal system development	integral to membrane	Notch binding	g.chr19:39994903C>T	AF241373	CCDS12537.1, CCDS12538.1	19q13.2	2008-05-14	2001-12-03			ENSG00000090932			2909	protein-coding gene	gene with protein product		602768	"delta (Drosophila)-like 3"			10364530, 10742114	Standard	NM_203486		Approved	SCDO1	uc002olx.2	Q9NYJ7		ENST00000205143.4:c.845C>T	19.37:g.39994903C>T	ENSP00000205143:p.Pro282Leu					DLL3_ENST00000356433.5_Missense_Mutation_p.P282L	p.P282L	NM_016941.3	NP_058637.1	Q9NYJ7	DLL3_HUMAN	Epithelial(26;5.89e-26)|all cancers(26;1.96e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)		5	852	+	all_cancers(60;4.04e-06)|all_lung(34;1.77e-07)|Lung NSC(34;2.09e-07)|all_epithelial(25;1.13e-05)|Ovarian(47;0.159)		282			EGF-like 2.		E9PFG2|Q8NBS4	Missense_Mutation	SNP	ENST00000205143.4	37	c.845C>T	CCDS12538.1	.	.	.	.	.	.	.	.	.	.	C	16.04	3.011082	0.54361	0.0	1.16E-4	ENSG00000090932	ENST00000356433;ENST00000205143	D;D	0.96104	-3.91;-3.91	5.4	4.29	0.51040	EGF (1);Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.47093	D	0.000249	D	0.96999	0.9020	M	0.90483	3.12	0.80722	D	1	D;D;P	0.61697	0.99;0.977;0.87	P;P;B	0.56960	0.81;0.561;0.442	D	0.96596	0.9441	9	.	.	.	.	9.0173	0.36177	0.0:0.7658:0.152:0.0822	.	282;282;282	Q8NBS4;Q9NYJ7;E9PFG2	.;DLL3_HUMAN;.	L	282	ENSP00000348810:P282L;ENSP00000205143:P282L	.	P	+	2	0	DLL3	44686743	1.000000	0.71417	0.961000	0.40146	0.133000	0.20885	6.641000	0.74324	2.698000	0.92095	0.561000	0.74099	CCG		0.647	DLL3-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000464958.1			8	44	0	0	0	1	0	8	44					T	39994903	C	T	39994903	3	4	305	1	0	0	0	0	1	0	0	0	4567	652	23	2	863	2	DLL3	19	39994903	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	235523	39994903	19134080	1004	15521											
DYRK1B	9149	broad.mit.edu	37	chr19	40316563	40316563	+	Frame_Shift_Del	DEL	G	G	-																															ggctcacatccatcagctccGggggtggtggtgaggttggt																										TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:40316563delG	ENST00000593685.1	-	11	2150	c.1682delC	c.(1681-1683)ccgfs	p.P561fs	DYRK1B_ENST00000348817.3_Frame_Shift_Del_p.P533fs|DYRK1B_ENST00000597639.1_Frame_Shift_Del_p.P533fs|DYRK1B_ENST00000323039.5_Frame_Shift_Del_p.P561fs|DYRK1B_ENST00000430012.2_Frame_Shift_Del_p.P521fs			Q9Y463	DYR1B_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1B	561	Poly-Pro.				adipose tissue development (GO:0060612)|myoblast fusion (GO:0007520)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)|transcription coactivator activity (GO:0003713)			central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(7)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	24	all_cancers(60;5.79e-06)|all_lung(34;5.2e-08)|Lung NSC(34;6.14e-08)|Ovarian(47;0.06)		Epithelial(26;5.74e-25)|OV - Ovarian serous cystadenocarcinoma(5;3.13e-24)|all cancers(26;8.59e-23)			CATCAGCTCCGGGGGTGGTGG	0.711																																						ENST00000593685.1																			0				central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(7)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	24						c.(1681-1683)cgfs		dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1B							24	30	28					19																	40316563		2143	4210	6353	SO:0001589	frameshift_variant	9149				positive regulation of transcription, DNA-dependent	nucleus	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|transcription coactivator activity	g.chr19:40316563delG	Y17999	CCDS12543.1, CCDS12544.1, CCDS46075.1	19q13.2	2012-10-02			ENSG00000105204	ENSG00000105204	2.7.12.1		3092	protein-coding gene	gene with protein product	"minibrain-related kinase"	604556				9918863	Standard	XM_005259395		Approved	MIRK	uc002omj.3	Q9Y463		ENST00000593685.1:c.1682delC	19.37:g.40316563delG	ENSP00000469863:p.Pro561fs					DYRK1B_ENST00000348817.3_Frame_Shift_Del_p.P533fs|DYRK1B_ENST00000323039.5_Frame_Shift_Del_p.P561fs|DYRK1B_ENST00000430012.2_Frame_Shift_Del_p.P521fs|DYRK1B_ENST00000597639.1_Frame_Shift_Del_p.P533fs	p.P561fs			Q9Y463	DYR1B_HUMAN	Epithelial(26;5.74e-25)|OV - Ovarian serous cystadenocarcinoma(5;3.13e-24)|all cancers(26;8.59e-23)		11	2150	-	all_cancers(60;5.79e-06)|all_lung(34;5.2e-08)|Lung NSC(34;6.14e-08)|Ovarian(47;0.06)		561			Poly-Pro.		O75258|O75788|O75789	Frame_Shift_Del	DEL	ENST00000593685.1	37	c.1682delC	CCDS12543.1																																																																																				0.711	DYRK1B-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462874.2	NM_004714		10	135						10	135	---	---	---	---	-	40316563	G	-	40316563	7	5	305	1	0	1	0	1	0	0	0	0	4855	1116	39	0	211	0	DYRK1B	19	40316563	Frame_Shift_Del	DEL	G	TCGA-KK-A59V-01A-11D-A29Q-08	321660	40316563	18812420	1005	15522											
MAP3K10	4294	broad.mit.edu	37	chr19	40711065	40711065	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccccacgggcggccagatttCggtagcatcttgaagcggct	7	8	13	13	4	1	2	0	1	1	1	2	2	1	2	3	4	2	3	3	4	2	3	rs375223270	byFrequency	TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:40711065C>T	ENST00000253055.3	+	4	1338	c.1050C>T	c.(1048-1050)ttC>ttT	p.F350F	AC118344.1_ENST00000408124.1_RNA	NM_002446.3	NP_002437.2	Q02779	M3K10_HUMAN	mitogen-activated protein kinase kinase kinase 10	350	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of JNKK activity (GO:0007256)|activation of JUN kinase activity (GO:0007257)|apoptotic process (GO:0006915)|JNK cascade (GO:0007254)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of apoptotic process (GO:0043065)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|protein autophosphorylation (GO:0046777)|signal transduction (GO:0007165)|smoothened signaling pathway (GO:0007224)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|bHLH transcription factor binding (GO:0043425)|JUN kinase kinase kinase activity (GO:0004706)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transcription corepressor activity (GO:0003714)			NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	24						GGCCAGATTTCGGTAGCATCT	0.597													C|||	3	0.000599042	0	0	5008	,	,		17061	0		0	False		,,,				2504	0.0031					ENST00000253055.3																			0				NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	24						c.(1048-1050)ttC>ttT		mitogen-activated protein kinase kinase kinase 10							83	87	86					19																	40711065		2203	4300	6503	SO:0001819	synonymous_variant	4294				activation of JUN kinase activity|induction of apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of JNK cascade|protein autophosphorylation|smoothened signaling pathway	cytoplasm	ATP binding|bHLH transcription factor binding|JUN kinase kinase kinase activity|protein homodimerization activity|transcription corepressor activity	g.chr19:40711065C>T	X90846	CCDS12549.1	19q13.2	2014-08-12			ENSG00000130758		2.7.11.1	"Mitogen-activated protein kinase cascade / Kinase kinase kinases"	6849	protein-coding gene	gene with protein product	"MKN28 kinase", "mixed lineage kinase 2", "MKN28 derived nonreceptor_type serine/threonine kinase"	600137		MLK2		8536694, 7731697	Standard	NM_002446		Approved	MST, MEKK10	uc002ona.3	Q02779	OTTHUMG00000182591	ENST00000253055.3:c.1050C>T	19.37:g.40711065C>T							p.F350F	NM_002446.3	NP_002437.2	Q02779	M3K10_HUMAN			4	1338	+			350			Protein kinase.		Q12761|Q14871	Silent	SNP	ENST00000253055.3	37	c.1050C>T	CCDS12549.1																																																																																				0.597	MAP3K10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462552.1	NM_002446		14	153	0	0	0	1	0	14	153					T	40711065	C	T	40711065	2	4	305	1	0	0	0	0	0	0	0	1	9244	883	31	2		2	MAP3K10	19	40711065	Silent	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	394502	40711065	18417918	1006	15523											
MAP3K10	4294	broad.mit.edu	37	chr19	40719433	40719433	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccggttgcagaggagttcgCggaggcagaggatggaggca	9	6	19	7	3	0	2	0	0	0	2	2	6	1	6	1	7	1	5	1	7	0	2			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:40719433C>T	ENST00000253055.3	+	9	2135	c.1847C>T	c.(1846-1848)gCg>gTg	p.A616V		NM_002446.3	NP_002437.2	Q02779	M3K10_HUMAN	mitogen-activated protein kinase kinase kinase 10	616					activation of JNKK activity (GO:0007256)|activation of JUN kinase activity (GO:0007257)|apoptotic process (GO:0006915)|JNK cascade (GO:0007254)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of apoptotic process (GO:0043065)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|protein autophosphorylation (GO:0046777)|signal transduction (GO:0007165)|smoothened signaling pathway (GO:0007224)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|bHLH transcription factor binding (GO:0043425)|JUN kinase kinase kinase activity (GO:0004706)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transcription corepressor activity (GO:0003714)			NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	24						GAGGAGTTCGCGGAGGCAGAG	0.711																																						ENST00000253055.3																			0				NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	24						c.(1846-1848)gCg>gTg		mitogen-activated protein kinase kinase kinase 10							15	17	16					19																	40719433		2200	4294	6494	SO:0001583	missense	4294				activation of JUN kinase activity|induction of apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of JNK cascade|protein autophosphorylation|smoothened signaling pathway	cytoplasm	ATP binding|bHLH transcription factor binding|JUN kinase kinase kinase activity|protein homodimerization activity|transcription corepressor activity	g.chr19:40719433C>T	X90846	CCDS12549.1	19q13.2	2014-08-12			ENSG00000130758		2.7.11.1	"Mitogen-activated protein kinase cascade / Kinase kinase kinases"	6849	protein-coding gene	gene with protein product	"MKN28 kinase", "mixed lineage kinase 2", "MKN28 derived nonreceptor_type serine/threonine kinase"	600137		MLK2		8536694, 7731697	Standard	NM_002446		Approved	MST, MEKK10	uc002ona.3	Q02779	OTTHUMG00000182591	ENST00000253055.3:c.1847C>T	19.37:g.40719433C>T	ENSP00000253055:p.Ala616Val						p.A616V	NM_002446.3	NP_002437.2	Q02779	M3K10_HUMAN			9	2135	+			616					Q12761|Q14871	Missense_Mutation	SNP	ENST00000253055.3	37	c.1847C>T	CCDS12549.1	.	.	.	.	.	.	.	.	.	.	C	12.61	1.989822	0.35131	.	.	ENSG00000130758	ENST00000253055	T	0.75050	-0.9	4.49	4.49	0.54785	.	5.215570	0.00582	N	0.000330	T	0.68357	0.2992	L	0.39898	1.24	0.38511	D	0.948467	P	0.49961	0.93	B	0.35039	0.194	T	0.62784	-0.6781	10	0.34782	T	0.22	.	14.6516	0.68800	0.0:1.0:0.0:0.0	.	616	Q02779	M3K10_HUMAN	V	616	ENSP00000253055:A616V	ENSP00000253055:A616V	A	+	2	0	MAP3K10	45411273	0.913000	0.31002	0.999000	0.59377	0.283000	0.27025	3.223000	0.51231	2.040000	0.60383	0.313000	0.20887	GCG		0.711	MAP3K10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462552.1	NM_002446		10	23	0	0	0	1	0	10	23					T	40719433	C	T	40719433	3	4	305	1	0	0	0	0	1	0	0	0	9244	768	27	1	1881	1	MAP3K10	19	40719433	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	8368	40719433	18409550	1007	15524											
MAP3K10	4294	broad.mit.edu	37	chr19	40720904	40720904	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaccttctggacttcccccGcctgcccgacccccaggccc	4	7	8	22	2	1	1	0	1	1	0	2	3	2	2	8	2	1	0	8	2	0	2	rs368709344		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:40720904G>A	ENST00000253055.3	+	10	2858	c.2570G>A	c.(2569-2571)cGc>cAc	p.R857H		NM_002446.3	NP_002437.2	Q02779	M3K10_HUMAN	mitogen-activated protein kinase kinase kinase 10	857					activation of JNKK activity (GO:0007256)|activation of JUN kinase activity (GO:0007257)|apoptotic process (GO:0006915)|JNK cascade (GO:0007254)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of apoptotic process (GO:0043065)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|protein autophosphorylation (GO:0046777)|signal transduction (GO:0007165)|smoothened signaling pathway (GO:0007224)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|bHLH transcription factor binding (GO:0043425)|JUN kinase kinase kinase activity (GO:0004706)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transcription corepressor activity (GO:0003714)	p.R857H(1)		NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	24						GACTTCCCCCGCCTGCCCGAC	0.677																																						ENST00000253055.3																			1	Substitution - Missense(1)	p.R857H(1)	ovary(1)	NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	24						c.(2569-2571)cGc>cAc		mitogen-activated protein kinase kinase kinase 10		G	HIS/ARG	1,4363		0,1,2181	20	19	20		2570	3.5	1	19		20	0,8512		0,0,4256	no	missense	MAP3K10	NM_002446.3	29	0,1,6437	AA,AG,GG		0.0,0.0229,0.0078	benign	857/955	40720904	1,12875	2182	4256	6438	SO:0001583	missense	4294				activation of JUN kinase activity|induction of apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of JNK cascade|protein autophosphorylation|smoothened signaling pathway	cytoplasm	ATP binding|bHLH transcription factor binding|JUN kinase kinase kinase activity|protein homodimerization activity|transcription corepressor activity	g.chr19:40720904G>A	X90846	CCDS12549.1	19q13.2	2014-08-12			ENSG00000130758		2.7.11.1	"Mitogen-activated protein kinase cascade / Kinase kinase kinases"	6849	protein-coding gene	gene with protein product	"MKN28 kinase", "mixed lineage kinase 2", "MKN28 derived nonreceptor_type serine/threonine kinase"	600137		MLK2		8536694, 7731697	Standard	NM_002446		Approved	MST, MEKK10	uc002ona.3	Q02779	OTTHUMG00000182591	ENST00000253055.3:c.2570G>A	19.37:g.40720904G>A	ENSP00000253055:p.Arg857His						p.R857H	NM_002446.3	NP_002437.2	Q02779	M3K10_HUMAN			10	2858	+			857					Q12761|Q14871	Missense_Mutation	SNP	ENST00000253055.3	37	c.2570G>A	CCDS12549.1	.	.	.	.	.	.	.	.	.	.	G	13.55	2.272036	0.40194	2.29E-4	0.0	ENSG00000130758	ENST00000253055	T	0.78364	-1.17	4.5	3.46	0.39613	.	0.113352	0.64402	N	0.000009	T	0.69984	0.3172	L	0.52573	1.65	0.44890	D	0.9979	B	0.14438	0.01	B	0.08055	0.003	T	0.66548	-0.5896	10	0.45353	T	0.12	.	10.269	0.43473	0.0975:0.0:0.9025:0.0	.	857	Q02779	M3K10_HUMAN	H	857	ENSP00000253055:R857H	ENSP00000253055:R857H	R	+	2	0	MAP3K10	45412744	1.000000	0.71417	0.999000	0.59377	0.550000	0.35303	5.602000	0.67612	1.117000	0.41842	0.511000	0.50034	CGC		0.677	MAP3K10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462552.1	NM_002446		17	43	0	0	0	1	0	17	43					A	40720904	G	A	40720904	3	1	305	1	0	0	0	0	1	0	0	0	9244	1087	38	1	2608	1	MAP3K10	19	40720904	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	1471	40720904	18408079	1008	15525											
BLVRB	645	broad.mit.edu	37	chr19	40964125	40964125	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctgccacaatgttccgggCgccctcggacatcactgtcg	6	8	12	15	4	1	0	1	0	0	0	4	1	2	1	3	3	1	2	3	3	1	1	rs201096602		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:40964125C>T	ENST00000263368.4	-	3	422	c.271G>A	c.(271-273)Gcc>Acc	p.A91T	BLVRB_ENST00000595483.1_Missense_Mutation_p.A91T	NM_000713.2	NP_000704.1	P30043	BLVRB_HUMAN	biliverdin reductase B (flavin reductase (NADPH))	91					heme catabolic process (GO:0042167)|porphyrin-containing compound metabolic process (GO:0006778)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	biliverdin reductase activity (GO:0004074)|riboflavin reductase (NADPH) activity (GO:0042602)			large_intestine(3)|lung(3)	6			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)		Riboflavin(DB00140)	ATGTTCCGGGCGCCCTCGGAC	0.687																																						ENST00000263368.4																			0				large_intestine(3)|lung(3)	6						c.(271-273)Gcc>Acc		biliverdin reductase B (flavin reductase (NADPH))	NADH(DB00157)|Riboflavin(DB00140)	C	THR/ALA	1,4405	2.1+/-5.4	0,1,2202	45	40	41		271	-0.7	0.8	19		41	0,8600		0,0,4300	yes	missense	BLVRB	NM_000713.2	58	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign	91/207	40964125	1,13005	2203	4300	6503	SO:0001583	missense	645				heme catabolic process	cytosol	biliverdin reductase activity|binding|flavin reductase activity	g.chr19:40964125C>T	D26308	CCDS33029.1	19q13.1-q13.2	2011-09-14				ENSG00000090013	1.3.1.24, 1.5.1.30	"Short chain dehydrogenase/reductase superfamily / Atypical members"	1063	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 43U, member 1"	600941	"Flavin reductase"	FLR		7656592, 19027726	Standard	NM_000713		Approved	SDR43U1	uc002onw.2	P30043		ENST00000263368.4:c.271G>A	19.37:g.40964125C>T	ENSP00000263368:p.Ala91Thr					BLVRB_ENST00000595483.1_Missense_Mutation_p.A91T	p.A91T	NM_000713.2	NP_000704.1	P30043	BLVRB_HUMAN	Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)		3	422	-			91					A6NKD8|B2R5C6|P32078|P53005|Q32LZ2	Missense_Mutation	SNP	ENST00000263368.4	37	c.271G>A	CCDS33029.1	.	.	.	.	.	.	.	.	.	.	C	6.226	0.409864	0.11812	2.27E-4	0.0	ENSG00000090013	ENST00000263368	T	0.29655	1.56	4.95	-0.665	0.11403	NAD(P)-binding domain (1);NmrA-like (1);	0.278809	0.39210	N	0.001427	T	0.06325	0.0163	N	0.00385	-1.57	0.32964	D	0.521376	B	0.06786	0.001	B	0.06405	0.002	T	0.36625	-0.9740	10	0.10111	T	0.7	-14.5354	8.4204	0.32696	0.0:0.2856:0.0:0.7144	.	91	P30043	BLVRB_HUMAN	T	91	ENSP00000263368:A91T	ENSP00000263368:A91T	A	-	1	0	BLVRB	45655965	0.957000	0.32711	0.804000	0.32291	0.982000	0.71751	1.731000	0.38135	0.080000	0.16959	0.557000	0.71058	GCC		0.687	BLVRB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462563.1			4	24	0	0	0	1	0	4	24					T	40964125	C	T	40964125	3	4	305	1	0	0	0	0	1	0	0	0	1452	768	27	1	361	1	BLVRB	19	40964125	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	243221	40964125	18164858	1009	15526											
ERF	2077	broad.mit.edu	37	chr19	42752695	42752695	+	Frame_Shift_Del	DEL	C	C	-																															acccgccttggggtgaggggCcccccagcctccccaggccc																										TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:42752695delC	ENST00000222329.4	-	4	1726	c.1569delG	c.(1567-1569)gggfs	p.G523fs	AC006486.9_ENST00000594664.1_Intron|ERF_ENST00000440177.2_Frame_Shift_Del_p.G448fs|ERF_ENST00000595941.1_5'Flank	NM_006494.2	NP_006485.2	P50548	ERF_HUMAN	Ets2 repressor factor	523					cell cycle (GO:0007049)|cell differentiation (GO:0030154)|chorio-allantoic fusion (GO:0060710)|ectodermal cell differentiation (GO:0010668)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)|trophoblast giant cell differentiation (GO:0060707)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|transcription corepressor activity (GO:0003714)			central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(7)|skin(1)	17		Prostate(69;0.00682)				GGGTGAGGGGCCCCCCAGCCT	0.697																																						ENST00000222329.4																			0				central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(7)|skin(1)	17						c.(1567-1569)ggfs		Ets2 repressor factor							19	25	23					19																	42752695		2200	4285	6485	SO:0001589	frameshift_variant	2077				cell proliferation|regulation of transcription from RNA polymerase II promoter	nucleus	ligand-regulated transcription factor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr19:42752695delC	U58535	CCDS12600.1	19q13	2008-07-16				ENSG00000105722			3444	protein-coding gene	gene with protein product	"Ets2 repressor factor"	611888				7588608, 9192842	Standard	XM_005258644		Approved	PE-2, PE2	uc002ote.4	P50548		ENST00000222329.4:c.1569delG	19.37:g.42752695delC	ENSP00000222329:p.Gly523fs					ERF_ENST00000440177.2_Frame_Shift_Del_p.G448fs|AC006486.9_ENST00000594664.1_Intron	p.G523fs	NM_006494.2	NP_006485.2	P50548	ERF_HUMAN			4	1726	-		Prostate(69;0.00682)	523					B2RAP1|B7Z4R0|Q59G38|Q9UPI7	Frame_Shift_Del	DEL	ENST00000222329.4	37	c.1569delG	CCDS12600.1																																																																																				0.697	ERF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463684.1	NM_006494		35	50						35	50	---	---	---	---	-	42752695	C	-	42752695	7	5	305	1	0	1	0	1	0	0	0	0	5221	726	26	0	81	0	ERF	19	42752695	Frame_Shift_Del	DEL	C	TCGA-KK-A59V-01A-11D-A29Q-08	1788570	42752695	16376288	1010	15527											
CIC	23152	broad.mit.edu	37	chr19	42796883	42796883	+	Frame_Shift_Del	DEL	C	C	-																															cctggcccagccatcccaggCccccccaagcctggtctaca																										TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:42796883delC	ENST00000575354.2	+	14	3381	c.3341delC	c.(3340-3342)gccfs	p.A1114fs	CIC_ENST00000572681.2_Frame_Shift_Del_p.A2022fs|CIC_ENST00000160740.3_Frame_Shift_Del_p.A1113fs	NM_015125.3	NP_055940.3	Q96RK0	CIC_HUMAN	capicua transcriptional repressor	1114	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)	p.S1117fs*34(1)		autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				CCATCCCAGGCCCCCCCAAGC	0.682			"Mis, F, S"		oligodendroglioma																																	ENST00000572681.2				Rec	yes		19	19q13.2	23152	"Mis, F, S"	capicua homolog			O			oligodendroglioma		1	Insertion - Frameshift(1)	p.S1117fs*34(1)	large_intestine(1)	autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82						c.(6064-6066)gcfs		capicua transcriptional repressor							45	53	50					19																	42796883		2203	4299	6502	SO:0001589	frameshift_variant	23152				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	g.chr19:42796883delC	AB002304	CCDS12601.1	19q13.2	2013-03-15	2013-03-15		ENSG00000079432	ENSG00000079432			14214	protein-coding gene	gene with protein product		612082	"capicua (Drosophila) homolog", "capicua homolog (Drosophila)"			12393275, 15981098	Standard	NM_015125		Approved	KIAA0306	uc002otf.1	Q96RK0		ENST00000575354.2:c.3341delC	19.37:g.42796883delC	ENSP00000458663:p.Ala1114fs					CIC_ENST00000160740.3_Frame_Shift_Del_p.A1113fs|CIC_ENST00000575354.2_Frame_Shift_Del_p.A1114fs	p.A2022fs			Q96RK0	CIC_HUMAN			15	6133	+		Prostate(69;0.00682)	1114					Q7LGI1|Q9UEG5|Q9Y6T1	Frame_Shift_Del	DEL	ENST00000575354.2	37	c.6065delC	CCDS12601.1																																																																																				0.682	CIC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000438532.2			10	124						10	124	---	---	---	---	-	42796883	C	-	42796883	7	5	305	1	0	1	0	1	0	0	0	0	3424	739	26	0	3395	0	CIC	19	42796883	Frame_Shift_Del	DEL	C	TCGA-KK-A59V-01A-11D-A29Q-08	44188	42796883	16332100	1011	15528											
PSG4	5672	broad.mit.edu	37	chr19	43698501	43698501	+	Missense_Mutation	SNP	T	T	C																															gatccacttaccagagacttTgactgtgatggatttggagc																										TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:43698501T>C	ENST00000405312.3	-	5	1471	c.1234A>G	c.(1234-1236)Aaa>Gaa	p.K412E	PSG4_ENST00000244295.9_Missense_Mutation_p.K319E|PSG4_ENST00000433626.2_Missense_Mutation_p.K319E	NM_002780.3	NP_002771.2	Q00888	PSG4_HUMAN	pregnancy specific beta-1-glycoprotein 4	412					female pregnancy (GO:0007565)	extracellular vesicular exosome (GO:0070062)				central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	24		Prostate(69;0.00682)				CCAGAGACTTTGACTGTGATG	0.463																																						ENST00000405312.3																			0				central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	24						c.(1234-1236)Aaa>Gaa		pregnancy specific beta-1-glycoprotein 4							227	224	225					19																	43698501		2203	4295	6498	SO:0001583	missense	5672				defense response|female pregnancy	extracellular region		g.chr19:43698501T>C		CCDS33039.1, CCDS46093.1, CCDS62695.1	19q13.2	2013-01-29			ENSG00000243137	ENSG00000243137		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	9521	protein-coding gene	gene with protein product	"pregnancy-specific beta-1-glycoprotein 4"	176393				2783133	Standard	NM_002780		Approved		uc002ovy.4	Q00888	OTTHUMG00000151544	ENST00000405312.3:c.1234A>G	19.37:g.43698501T>C	ENSP00000384770:p.Lys412Glu					PSG4_ENST00000433626.2_Missense_Mutation_p.K319E|PSG4_ENST00000244295.9_Missense_Mutation_p.K319E	p.K412E	NM_002780.3	NP_002771.2	Q00888	PSG4_HUMAN			5	1471	-		Prostate(69;0.00682)	412					E7EX79|Q13047|Q13048|Q15234|Q15240|Q9UQ76	Missense_Mutation	SNP	ENST00000405312.3	37	c.1234A>G	CCDS46093.1	.	.	.	.	.	.	.	.	.	.	g	1.734	-0.493374	0.04322	.	.	ENSG00000243137	ENST00000244295;ENST00000405312;ENST00000433626	T;T;T	0.12569	2.67;2.67;2.67	1.18	-0.0375	0.13884	Immunoglobulin-like fold (1);	.	.	.	.	T	0.07234	0.0183	N	0.20685	0.6	0.09310	N	1	B;B;B	0.09022	0.001;0.002;0.0	B;B;B	0.20577	0.03;0.007;0.008	T	0.43540	-0.9385	9	0.20519	T	0.43	.	4.0173	0.09649	0.0:0.0:0.3805:0.6195	rs3207389	319;319;412	E7EX79;Q00888-2;Q00888	.;.;PSG4_HUMAN	E	319;412;319	ENSP00000244295:K319E;ENSP00000384770:K412E;ENSP00000387864:K319E	ENSP00000244295:K319E	K	-	1	0	PSG4	48390341	0.000000	0.05858	0.002000	0.10522	0.001000	0.01503	0.046000	0.14035	-0.310000	0.08766	-0.575000	0.04146	AAA		0.463	PSG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323073.1	NM_213633		82	220	0	0	0	1	0	82	220					C	43698501	T	C	43698501	3	2	305	1	0	0	0	0	1	0	0	0	12657	1821	63	4	33	4	PSG4	19	43698501	Missense_Mutation	SNP	T	TCGA-KK-A59V-01A-11D-A29Q-08	901618	43698501	15430482	1012	15529	76	2									
PSG4	5672	broad.mit.edu	37	chr19	43698508	43698508	+	Missense_Mutation	SNP	G	G	C																															ttaccagagactttgactgtGatggatttggagctttcctt																								rs145716593		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:43698508G>C	ENST00000405312.3	-	5	1464	c.1227C>G	c.(1225-1227)atC>atG	p.I409M	PSG4_ENST00000244295.9_Missense_Mutation_p.I316M|PSG4_ENST00000433626.2_Missense_Mutation_p.I316M	NM_002780.3	NP_002771.2	Q00888	PSG4_HUMAN	pregnancy specific beta-1-glycoprotein 4	409	Ig-like C2-type 3.				female pregnancy (GO:0007565)	extracellular vesicular exosome (GO:0070062)				central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	24		Prostate(69;0.00682)				CTTTGACTGTGATGGATTTGG	0.453																																						ENST00000405312.3																			0				central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	24						c.(1225-1227)atC>atG		pregnancy specific beta-1-glycoprotein 4		C	MET/ILE,MET/ILE	2,4404	825.7+/-416.5	0,2,2201	228	224	225		1227,948	1.2	0	19	dbSNP_134	225	0,8590		0,0,4295	no	missense,missense	PSG4	NM_002780.3,NM_213633.1	10,10	0,2,6496	CC,CG,GG		0.0,0.0454,0.0154	,	409/420,316/327	43698508	2,12994	2203	4295	6498	SO:0001583	missense	5672				defense response|female pregnancy	extracellular region		g.chr19:43698508G>C		CCDS33039.1, CCDS46093.1, CCDS62695.1	19q13.2	2013-01-29			ENSG00000243137	ENSG00000243137		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	9521	protein-coding gene	gene with protein product	"pregnancy-specific beta-1-glycoprotein 4"	176393				2783133	Standard	NM_002780		Approved		uc002ovy.4	Q00888	OTTHUMG00000151544	ENST00000405312.3:c.1227C>G	19.37:g.43698508G>C	ENSP00000384770:p.Ile409Met					PSG4_ENST00000433626.2_Missense_Mutation_p.I316M|PSG4_ENST00000244295.9_Missense_Mutation_p.I316M	p.I409M	NM_002780.3	NP_002771.2	Q00888	PSG4_HUMAN			5	1464	-		Prostate(69;0.00682)	409			Ig-like C2-type 3.		E7EX79|Q13047|Q13048|Q15234|Q15240|Q9UQ76	Missense_Mutation	SNP	ENST00000405312.3	37	c.1227C>G	CCDS46093.1	.	.	.	.	.	.	.	.	.	.	c	0.005	-2.119415	0.00346	4.54E-4	0.0	ENSG00000243137	ENST00000244295;ENST00000405312;ENST00000433626	T;T;T	0.14266	2.52;2.52;2.52	1.18	1.18	0.20946	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.08714	0.0216	N	0.25992	0.78	0.09310	N	1	B;B;B	0.06786	0.0;0.001;0.001	B;B;B	0.13407	0.003;0.009;0.007	T	0.37663	-0.9696	9	0.33141	T	0.24	.	5.1741	0.15126	0.0:0.6247:0.3753:0.0	.	316;316;409	E7EX79;Q00888-2;Q00888	.;.;PSG4_HUMAN	M	316;409;316	ENSP00000244295:I316M;ENSP00000384770:I409M;ENSP00000387864:I316M	ENSP00000244295:I316M	I	-	3	3	PSG4	48390348	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.876000	0.04201	-0.179000	0.10654	-0.387000	0.06579	ATC		0.453	PSG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323073.1	NM_213633		86	214	0	0	0	1	0	86	214					C	43698508	G	C	43698508	3	2	305	1	0	0	0	0	1	0	0	0	12657	1280	45	5	40	5	PSG4	19	43698508	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	7	43698508	15430475	1013	15530	76	2									
ETHE1	23474	broad.mit.edu	37	chr19	44015716	44015716	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gggctggccctggtctccaaCgcctggcaggggtggaagag	6	6	18	11	1	1	1	0	0	1	1	2	2	1	2	3	7	1	2	3	7	2	0	rs138427304		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:44015716C>T	ENST00000292147.2	-	4	444	c.378G>A	c.(376-378)gcG>gcA	p.A126A	ETHE1_ENST00000600651.1_Silent_p.A126A	NM_014297.3	NP_055112.2	O95571	ETHE1_HUMAN	ethylmalonic encephalopathy 1	126					cellular nitrogen compound metabolic process (GO:0034641)|glutathione metabolic process (GO:0006749)|hydrogen sulfide metabolic process (GO:0070813)|small molecule metabolic process (GO:0044281)|sulfide oxidation, using sulfide:quinone oxidoreductase (GO:0070221)|sulfur amino acid catabolic process (GO:0000098)|sulfur amino acid metabolic process (GO:0000096)	cytoplasm (GO:0005737)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	iron ion binding (GO:0005506)|sulfur dioxygenase activity (GO:0050313)			central_nervous_system(1)|liver(1)|lung(2)|upper_aerodigestive_tract(1)	5		Prostate(69;0.0153)				TGGTCTCCAACGCCTGGCAGG	0.577																																						ENST00000600651.1																			0				central_nervous_system(1)|liver(1)|lung(2)|upper_aerodigestive_tract(1)	5						c.(376-378)gcG>gcA		ethylmalonic encephalopathy 1		C		1,4405	2.1+/-5.4	0,1,2202	51	45	47		378	-2.8	1	19	dbSNP_134	47	0,8600		0,0,4300	no	coding-synonymous	ETHE1	NM_014297.3		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		126/255	44015716	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	23474					mitochondrial matrix|nucleus	hydrolase activity|metal ion binding	g.chr19:44015716C>T		CCDS12622.1	19q13.32	2014-06-20				ENSG00000105755	1.13.11.18		23287	protein-coding gene	gene with protein product		608451				19136963	Standard	NM_014297		Approved	YF13H12, HSCO	uc002owp.3	O95571		ENST00000292147.2:c.378G>A	19.37:g.44015716C>T						ETHE1_ENST00000292147.2_Silent_p.A126A	p.A126A			O95571	ETHE1_HUMAN			4	401	-		Prostate(69;0.0153)	126					Q96HR0|Q9H001	Silent	SNP	ENST00000292147.2	37	c.378G>A	CCDS12622.1																																																																																				0.577	ETHE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463184.1	NM_014297		13	34	0	0	0	1	0	13	34					T	44015716	C	T	44015716	2	4	305	1	0	0	0	0	0	0	0	1	5272	523	19	1		1	ETHE1	19	44015716	Silent	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	317208	44015716	15113267	1014	15531											
KCNN4	3783	broad.mit.edu	37	chr19	44278577	44278577	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agcatggccagggacagcagCgcttccccttggcccaggaa	9	5	13	14	1	0	0	0	0	0	0	1	2	1	2	4	4	3	3	4	4	1	2			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:44278577C>T	ENST00000262888.3	-	3	845	c.450G>A	c.(448-450)gcG>gcA	p.A150A		NM_002250.2	NP_002241.1	O15554	KCNN4_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 4	150					calcium ion transport (GO:0006816)|cell volume homeostasis (GO:0006884)|defense response (GO:0006952)|immune system process (GO:0002376)|phospholipid translocation (GO:0045332)|positive regulation of protein secretion (GO:0050714)|positive regulation of T cell receptor signaling pathway (GO:0050862)|potassium ion export (GO:0071435)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|saliva secretion (GO:0046541)|stabilization of membrane potential (GO:0030322)|synaptic transmission (GO:0007268)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|membrane raft (GO:0045121)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	calcium-activated potassium channel activity (GO:0015269)|calmodulin binding (GO:0005516)|Intermediate conductance calcium-activated potassium channel activity (GO:0022894)|protein phosphatase binding (GO:0019903)			biliary_tract(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	15		Prostate(69;0.0352)			Clotrimazole(DB00257)|Enflurane(DB00228)|Halothane(DB01159)|Miconazole(DB01110)|Procaine(DB00721)|Quinine(DB00468)	GGGACAGCAGCGCTTCCCCTT	0.731											OREG0025535	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000262888.3																			0				biliary_tract(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	15						c.(448-450)gcG>gcA		potassium intermediate/small conductance calcium-activated channel, subfamily N, member 4	Clotrimazole(DB00257)|Halothane(DB01159)|Quinine(DB00468)						12	13	13					19																	44278577		2182	4284	6466	SO:0001819	synonymous_variant	3783				defense response	voltage-gated potassium channel complex	calcium-activated potassium channel activity|calmodulin binding	g.chr19:44278577C>T	AF022797	CCDS12630.1	19q13.2	2012-07-05				ENSG00000104783		"Potassium channels", "Voltage-gated ion channels / Potassium channels, calcium-activated"	6293	protein-coding gene	gene with protein product		602754				9380751, 9407042, 16382103	Standard	NM_002250		Approved	KCa3.1, hSK4, hKCa4, hIKCa1	uc002oxl.3	O15554		ENST00000262888.3:c.450G>A	19.37:g.44278577C>T			OREG0025535	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	922		p.A150A	NM_002250.2	NP_002241.1	O15554	KCNN4_HUMAN			3	845	-		Prostate(69;0.0352)	150					Q53XR4	Silent	SNP	ENST00000262888.3	37	c.450G>A	CCDS12630.1																																																																																				0.731	KCNN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463598.1	NM_002250		3	9	0	0	0	1	0	3	9					T	44278577	C	T	44278577	2	4	305	1	0	0	0	0	0	0	0	1	8081	755	27	1		1	KCNN4	19	44278577	Silent	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	262861	44278577	14850406	1015	15532											
CEACAM16	388551	broad.mit.edu	37	chr19	45211162	45211162	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgccacgatgatcgtgcccGtgcccaccaagccaacggag	9	6	11	15	4	0	1	0	1	0	0	1	3	0	2	5	1	5	0	5	1	2	1			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:45211162G>A	ENST00000405314.2	+	5	1067	c.970G>A	c.(970-972)Gtg>Atg	p.V324M	CTB-171A8.1_ENST00000590796.1_RNA|CEACAM16_ENST00000587331.1_Missense_Mutation_p.V324M			Q2WEN9	CEA16_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 16	324					sensory perception of sound (GO:0007605)	extracellular region (GO:0005576)|stereocilium bundle tip (GO:0032426)				endometrium(3)|large_intestine(2)|lung(3)|ovary(1)	9	Lung NSC(12;0.000698)|all_lung(12;0.002)	Prostate(69;0.0376)|Ovarian(192;0.231)				GATCGTGCCCGTGCCCACCAA	0.652																																						ENST00000587331.1																			0				endometrium(3)|large_intestine(2)|lung(3)|ovary(1)	9						c.(970-972)Gtg>Atg		carcinoembryonic antigen-related cell adhesion molecule 16							15	17	16					19																	45211162		2165	4248	6413	SO:0001583	missense	388551							g.chr19:45211162G>A		CCDS54278.1	19q13.31	2014-01-27			ENSG00000213892	ENSG00000213892		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	31948	protein-coding gene	gene with protein product		614591				21368133	Standard	NM_001039213		Approved	DFNA4B	uc010xxd.2	Q2WEN9	OTTHUMG00000151519	ENST00000405314.2:c.970G>A	19.37:g.45211162G>A	ENSP00000385576:p.Val324Met					CTB-171A8.1_ENST00000590796.1_RNA|CEACAM16_ENST00000405314.2_Missense_Mutation_p.V324M	p.V324M	NM_001039213.2	NP_001034302.2	A7LI12	A7LI12_HUMAN			6	1185	+	Lung NSC(12;0.000698)|all_lung(12;0.002)	Prostate(69;0.0376)|Ovarian(192;0.231)	324					A7LI12	Missense_Mutation	SNP	ENST00000405314.2	37	c.970G>A	CCDS54278.1	.	.	.	.	.	.	.	.	.	.	G	13.56	2.273076	0.40194	.	.	ENSG00000213892	ENST00000396750;ENST00000405314	T	0.01665	4.7	5.87	3.69	0.42338	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.01695	0.0054	L	0.41236	1.265	0.28400	N	0.918674	P	0.43662	0.814	B	0.33339	0.162	T	0.46527	-0.9185	9	0.49607	T	0.09	-23.7722	7.4779	0.27387	0.1992:0.0:0.8008:0.0	.	383	Q2WEN9	CEA16_HUMAN	M	389;324	ENSP00000385576:V324M	ENSP00000379974:V389M	V	+	1	0	CEACAM16	49903002	0.973000	0.33851	0.843000	0.33291	0.928000	0.56348	1.724000	0.38064	1.404000	0.46819	-0.355000	0.07637	GTG		0.652	CEACAM16-201	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding		XM_371177		5	15	0	0	0	1	0	5	15					A	45211162	G	A	45211162	3	1	305	1	0	0	0	0	1	0	0	0	3188	1145	40	1	988	1	CEACAM16	19	45211162	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	932585	45211162	13917821	1016	15533											
CEACAM16	388551	broad.mit.edu	37	chr19	45211237	45211237	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaaggacctgctggtctacGcctggtaccgcgggcctgcc	5	7	13	16	3	1	0	0	0	1	0	1	1	1	1	6	4	4	2	6	4	3	2	rs187740201	byFrequency	TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:45211237G>A	ENST00000405314.2	+	5	1142	c.1045G>A	c.(1045-1047)Gcc>Acc	p.A349T	CTB-171A8.1_ENST00000590796.1_RNA|CEACAM16_ENST00000587331.1_Missense_Mutation_p.A349T			Q2WEN9	CEA16_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 16	349					sensory perception of sound (GO:0007605)	extracellular region (GO:0005576)|stereocilium bundle tip (GO:0032426)				endometrium(3)|large_intestine(2)|lung(3)|ovary(1)	9	Lung NSC(12;0.000698)|all_lung(12;0.002)	Prostate(69;0.0376)|Ovarian(192;0.231)				GCTGGTCTACGCCTGGTACCG	0.682													G|||	4	0.000798722	0	0	5008	,	,		16701	0.004		0	False		,,,				2504	0					ENST00000587331.1																			0				endometrium(3)|large_intestine(2)|lung(3)|ovary(1)	9						c.(1045-1047)Gcc>Acc		carcinoembryonic antigen-related cell adhesion molecule 16							12	13	13					19																	45211237		2093	4195	6288	SO:0001583	missense	388551							g.chr19:45211237G>A		CCDS54278.1	19q13.31	2014-01-27			ENSG00000213892	ENSG00000213892		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	31948	protein-coding gene	gene with protein product		614591				21368133	Standard	NM_001039213		Approved	DFNA4B	uc010xxd.2	Q2WEN9	OTTHUMG00000151519	ENST00000405314.2:c.1045G>A	19.37:g.45211237G>A	ENSP00000385576:p.Ala349Thr					CTB-171A8.1_ENST00000590796.1_RNA|CEACAM16_ENST00000405314.2_Missense_Mutation_p.A349T	p.A349T	NM_001039213.2	NP_001034302.2	A7LI12	A7LI12_HUMAN			6	1260	+	Lung NSC(12;0.000698)|all_lung(12;0.002)	Prostate(69;0.0376)|Ovarian(192;0.231)	349					A7LI12	Missense_Mutation	SNP	ENST00000405314.2	37	c.1045G>A	CCDS54278.1	3	0.0013736263736263737	0	0.0	0	0.0	3	0.005244755244755245	0	0.0	G	17.58	3.424360	0.62733	.	.	ENSG00000213892	ENST00000396750;ENST00000405314	T	0.65178	-0.14	5.87	5.87	0.94306	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.59046	0.2165	N	0.20881	0.62	0.33065	D	0.534547	D	0.89917	1.0	D	0.91635	0.999	T	0.63576	-0.6606	9	0.18276	T	0.48	-36.6248	15.7789	0.78243	0.0:0.0:1.0:0.0	.	408	Q2WEN9	CEA16_HUMAN	T	414;349	ENSP00000385576:A349T	ENSP00000379974:A414T	A	+	1	0	CEACAM16	49903077	0.991000	0.36638	0.994000	0.49952	0.998000	0.95712	2.377000	0.44300	2.788000	0.95919	0.650000	0.86243	GCC		0.682	CEACAM16-201	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding		XM_371177		6	13	0	0	0	1	0	6	13					A	45211237	G	A	45211237	3	1	305	1	0	0	0	0	1	0	0	0	3188	1087	38	1	1063	1	CEACAM16	19	45211237	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	75	45211237	13917746	1017	15534											
BCL3	602	broad.mit.edu	37	chr19	45260309	45260309	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgtgatcaccacattaccGtctgtggtccggctcctggt	5	12	11	13	2	2	1	1	1	1	0	4	1	4	1	4	3	1	2	4	3	1	1			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:45260309G>A	ENST00000164227.5	+	4	799	c.555G>A	c.(553-555)ccG>ccA	p.P185P		NM_005178.4	NP_005169.2	P20749	BCL3_HUMAN	B-cell CLL/lymphoma 3	185					antimicrobial humoral response (GO:0019730)|cellular response to DNA damage stimulus (GO:0006974)|defense response to bacterium (GO:0042742)|defense response to protozoan (GO:0042832)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|extracellular matrix organization (GO:0030198)|follicular dendritic cell differentiation (GO:0002268)|germinal center formation (GO:0002467)|humoral immune response mediated by circulating immunoglobulin (GO:0002455)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|maintenance of protein location in nucleus (GO:0051457)|marginal zone B cell differentiation (GO:0002315)|negative regulation of apoptotic process (GO:0043066)|negative regulation of interleukin-8 biosynthetic process (GO:0045415)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of tumor necrosis factor biosynthetic process (GO:0042536)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-10 biosynthetic process (GO:0045082)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of translation (GO:0045727)|protein import into nucleus, translocation (GO:0000060)|regulation of apoptotic process (GO:0042981)|regulation of DNA binding (GO:0051101)|regulation of NF-kappaB import into nucleus (GO:0042345)|response to UV-C (GO:0010225)|response to virus (GO:0009615)|spleen development (GO:0048536)|T-helper 1 type immune response (GO:0042088)|T-helper 2 cell differentiation (GO:0045064)|transcription, DNA-templated (GO:0006351)	Bcl3-Bcl10 complex (GO:0032996)|Bcl3/NF-kappaB2 complex (GO:0033257)|cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|protein binding, bridging (GO:0030674)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			kidney(1)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10	Lung NSC(12;0.000698)|all_lung(12;0.002)	Ovarian(192;0.0728)				CCACATTACCGTCTGTGGTCC	0.667			T	IGH@	CLL																																	ENST00000164227.5				Dom	yes		19	19q13	602	T	B-cell CLL/lymphoma 3			L	IGH@		CLL		0				kidney(1)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10						c.(553-555)ccG>ccA		B-cell CLL/lymphoma 3							31	20	24					19																	45260309		2180	4243	6423	SO:0001819	synonymous_variant	602				DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|I-kappaB kinase/NF-kappaB cascade|maintenance of protein location in nucleus|negative regulation of apoptosis|negative regulation of interleukin-8 biosynthetic process|negative regulation of transcription, DNA-dependent|positive regulation of translation|protein import into nucleus, translocation|regulation of DNA binding|regulation of NF-kappaB import into nucleus|response to UV-C|response to virus	Bcl3-Bcl10 complex|Bcl3/NF-kappaB2 complex|nucleus|perinuclear region of cytoplasm	protein binding, bridging|transcription factor binding	g.chr19:45260309G>A	M31732	CCDS12642.2	19q13.1-q13.2	2013-01-10			ENSG00000069399	ENSG00000069399		"Ankyrin repeat domain containing"	998	protein-coding gene	gene with protein product	"B-cell lymphoma 3-encoded protein", "B-cell leukemia/lymphoma 3", "chronic lymphatic leukemia protein"	109560		D19S37, BCL4		1501714, 2180580	Standard	NM_005178		Approved		uc010xxe.2	P20749	OTTHUMG00000151517	ENST00000164227.5:c.555G>A	19.37:g.45260309G>A							p.P185P	NM_005178.4	NP_005169.2	P20749	BCL3_HUMAN			4	799	+	Lung NSC(12;0.000698)|all_lung(12;0.002)	Ovarian(192;0.0728)	185						Silent	SNP	ENST00000164227.5	37	c.555G>A	CCDS12642.2	.	.	.	.	.	.	.	.	.	.	G	9.826	1.187221	0.21870	.	.	ENSG00000069399	ENST00000444487	.	.	.	4.82	-9.64	0.00541	.	.	.	.	.	T	0.41096	0.1144	.	.	.	0.58432	D	0.999998	.	.	.	.	.	.	T	0.47086	-0.9144	4	.	.	.	-11.9443	3.9722	0.09458	0.3678:0.3635:0.1891:0.0797	.	.	.	.	I	69	.	.	V	+	1	0	BCL3	49952149	0.000000	0.05858	0.000000	0.03702	0.984000	0.73092	-4.209000	0.00273	-2.730000	0.00384	0.313000	0.20887	GTC		0.667	BCL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322976.1	NM_005178		5	21	0	0	0	1	0	5	21					A	45260309	G	A	45260309	2	1	305	1	0	0	0	0	0	0	0	1	1375	1132	40	1		1	BCL3	19	45260309	Silent	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	49072	45260309	13868674	1018	15535											
OPA3	80207	broad.mit.edu	37	chr19	46056805	46056805	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcaggcactgcgtgggaagcGgaccggccgggattgcagag	8	4	19	10	4	0	1	0	0	0	1	0	4	0	4	2	5	3	3	2	5	1	1			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:46056805G>A	ENST00000263275.4	-	2	561	c.507C>T	c.(505-507)tcC>tcT	p.S169S	OPA3_ENST00000544371.1_Silent_p.S116S|OPA3_ENST00000323060.3_Intron	NM_025136.3	NP_079412.1	Q9H6K4	OPA3_HUMAN	optic atrophy 3 (autosomal recessive, with chorea and spastic paraplegia)	169					growth (GO:0040007)|mitochondrion morphogenesis (GO:0070584)|neuromuscular process (GO:0050905)|regulation of lipid metabolic process (GO:0019216)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	mitochondrion (GO:0005739)				cervix(1)|large_intestine(1)|lung(2)	4		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00778)|GBM - Glioblastoma multiforme(486;0.0976)|Epithelial(262;0.242)		CGTGGGAAGCGGACCGGCCGG	0.642																																						ENST00000263275.4																			0				cervix(1)|large_intestine(1)|lung(2)	4						c.(505-507)tcC>tcT		optic atrophy 3 (autosomal recessive, with chorea and spastic paraplegia)							48	53	51					19																	46056805		2184	4267	6451	SO:0001819	synonymous_variant	80207				response to stimulus|visual perception	mitochondrion		g.chr19:46056805G>A	AK025840	CCDS12668.1, CCDS33052.1	19q13.2-q13.3	2014-01-28				ENSG00000125741			8142	protein-coding gene	gene with protein product		606580				9097959, 11668429	Standard	NM_001017989		Approved	FLJ22187, MGA3	uc002pcj.4	Q9H6K4		ENST00000263275.4:c.507C>T	19.37:g.46056805G>A						OPA3_ENST00000544371.1_Silent_p.S116S|OPA3_ENST00000323060.3_Intron	p.S169S	NM_025136.3	NP_079412.1	Q9H6K4	OPA3_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00778)|GBM - Glioblastoma multiforme(486;0.0976)|Epithelial(262;0.242)	2	561	-		Ovarian(192;0.051)|all_neural(266;0.112)	169					Q6P384|Q8N784	Silent	SNP	ENST00000263275.4	37	c.507C>T	CCDS12668.1																																																																																				0.642	OPA3-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000459601.1			7	124	0	0	0	1	0	7	124					A	46056805	G	A	46056805	2	1	305	1	0	0	0	0	0	0	0	1	10872	1103	39	2		2	OPA3	19	46056805	Silent	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	796496	46056805	13072178	1019	15536											
FBXO46	23403	broad.mit.edu	37	chr19	46215483	46215483	+	Frame_Shift_Del	DEL	G	G	-																															cagtggccggggagtcggccGggggtggctccgggggcccg																										TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:46215483delG	ENST00000317683.3	-	2	1404	c.1271delC	c.(1270-1272)ccgfs	p.P424fs		NM_001080469.1	NP_001073938.1	Q6PJ61	FBX46_HUMAN	F-box protein 46	424										breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(2)|skin(1)	15		Ovarian(192;0.179)|all_neural(266;0.224)		OV - Ovarian serous cystadenocarcinoma(262;0.00568)|GBM - Glioblastoma multiforme(486;0.0844)|Epithelial(262;0.201)		GGAGTCGGCCGGGGGTGGCTC	0.726																																						ENST00000317683.3																			0				breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(2)|skin(1)	15						c.(1270-1272)cgfs		F-box protein 46							7	9	8					19																	46215483		1633	3649	5282	SO:0001589	frameshift_variant	23403						protein binding	g.chr19:46215483delG	BC021978	CCDS46116.1	19q13.3	2008-02-05	2004-06-15	2004-06-16		ENSG00000177051		"F-boxes /  "other""	25069	protein-coding gene	gene with protein product		609117	"F-box only protein 34-like"	FBXO34L		9585442	Standard	NM_001080469		Approved	20D7-FC4, Fbx46	uc002pcz.3	Q6PJ61		ENST00000317683.3:c.1271delC	19.37:g.46215483delG	ENSP00000410007:p.Pro424fs						p.P424fs	NM_001080469.1	NP_001073938.1	Q6PJ61	FBX46_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00568)|GBM - Glioblastoma multiforme(486;0.0844)|Epithelial(262;0.201)	2	1404	-		Ovarian(192;0.179)|all_neural(266;0.224)	424						Frame_Shift_Del	DEL	ENST00000317683.3	37	c.1271delC	CCDS46116.1																																																																																				0.726	FBXO46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459661.1	XM_371179		21	35						21	35	---	---	---	---	-	46215483	G	-	46215483	7	5	305	1	0	1	0	1	0	0	0	0	5755	1116	39	0	544	0	FBXO46	19	46215483	Frame_Shift_Del	DEL	G	TCGA-KK-A59V-01A-11D-A29Q-08	158678	46215483	12913500	1020	15537											
SIX5	147912	broad.mit.edu	37	chr19	46269107	46269107	+	Frame_Shift_Del	DEL	G	G	-																															ctggaggtggtggcagcggcGgggggtggctgctgtgcaga																								rs373614429	byFrequency	TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:46269107delG	ENST00000317578.6	-	3	2253	c.1872delC	c.(1870-1872)cccfs	p.P624fs	SIX5_ENST00000560168.1_3'UTR|AC074212.5_ENST00000559756.1_RNA|AC074212.6_ENST00000590076.1_RNA|AC074212.5_ENST00000592217.2_RNA	NM_175875.4	NP_787071	Q8N196	SIX5_HUMAN	SIX homeobox 5	624					lens development in camera-type eye (GO:0002088)|negative regulation of cell proliferation (GO:0008285)|regulation of transcription, DNA-templated (GO:0006355)|spermatid development (GO:0007286)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	8		Ovarian(192;0.0308)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00783)|GBM - Glioblastoma multiforme(486;0.0802)|Epithelial(262;0.235)		TGGCAGCGGCGGGGGGTGGCT	0.711																																						ENST00000317578.6																			0				endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	8						c.(1870-1872)ccfs		SIX homeobox 5							8	11	10					19																	46269107		2146	4215	6361	SO:0001589	frameshift_variant	147912					cytoplasm|nucleus	protein binding|sequence-specific DNA binding transcription factor activity	g.chr19:46269107delG	L08835	CCDS12673.1	19q13.32	2011-06-20	2007-07-13			ENSG00000177045		"Homeoboxes / SINE class"	10891	protein-coding gene	gene with protein product		600963	"sine oculis homeobox (Drosophila) homolog 5", "sine oculis homeobox homolog 5 (Drosophila)"	DMAHP		8595416	Standard	NM_175875		Approved		uc002pdb.3	Q8N196		ENST00000317578.6:c.1872delC	19.37:g.46269107delG	ENSP00000316842:p.Pro624fs					AC074212.5_ENST00000559756.1_RNA|SIX5_ENST00000560168.1_3'UTR	p.P624fs	NM_175875.4	NP_787071.2	Q8N196	SIX5_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00783)|GBM - Glioblastoma multiforme(486;0.0802)|Epithelial(262;0.235)	3	2253	-		Ovarian(192;0.0308)|all_neural(266;0.112)	624						Frame_Shift_Del	DEL	ENST00000317578.6	37	c.1872delC	CCDS12673.1																																																																																				0.711	SIX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417341.3	NM_175875		8	31						8	31	---	---	---	---	-	46269107	G	-	46269107	7	5	305	1	0	1	0	1	0	0	0	0	14350	1103	39	0	351	0	SIX5	19	46269107	Frame_Shift_Del	DEL	G	TCGA-KK-A59V-01A-11D-A29Q-08	53624	46269107	12859876	1021	15538											
DMWD	1762	broad.mit.edu	37	chr19	46289388	46289388	+	Frame_Shift_Del	DEL	G	G	-																															gagggtgcgggtgcgggccaGgggggggtgcgggtagagca																										TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:46289388delG	ENST00000270223.6	-	3	1411	c.1366delC	c.(1366-1368)ctgfs	p.L456fs	DMWD_ENST00000601370.1_5'Flank|AC011530.4_ENST00000593999.1_5'Flank|DMWD_ENST00000377735.3_Frame_Shift_Del_p.L456fs	NM_004943.1	NP_004934.1	Q09019	DMWD_HUMAN	dystrophia myotonica, WD repeat containing	456										central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	16		Ovarian(192;0.0308)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00604)|GBM - Glioblastoma multiforme(486;0.0807)|Epithelial(262;0.236)		GTGCGGGCCAGGGGGGGGTGC	0.711																																						ENST00000270223.6																			0				central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	16						c.(1366-1368)tgfs		dystrophia myotonica, WD repeat containing							4	6	5					19																	46289388		1989	3960	5949	SO:0001589	frameshift_variant	1762				meiosis			g.chr19:46289388delG	L19267	CCDS33054.1	19q13.32	2013-01-09	2007-02-20		ENSG00000185800	ENSG00000185800		"WD repeat domain containing"	2936	protein-coding gene	gene with protein product		609857	"dystrophia myotonica-containing WD repeat motif"			1302022	Standard	NM_004943		Approved	DMR-N9, gene59, D19S593E	uc021uwc.1	Q09019	OTTHUMG00000169044	ENST00000270223.6:c.1366delC	19.37:g.46289388delG	ENSP00000270223:p.Leu456fs					DMWD_ENST00000377735.3_Frame_Shift_Del_p.L456fs	p.L456fs	NM_004943.1	NP_004934.1	Q09019	DMWD_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00604)|GBM - Glioblastoma multiforme(486;0.0807)|Epithelial(262;0.236)	3	1411	-		Ovarian(192;0.0308)|all_neural(266;0.112)	456						Frame_Shift_Del	DEL	ENST00000270223.6	37	c.1366delC	CCDS33054.1																																																																																				0.711	DMWD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402063.1	NM_004943		6	13						6	13	---	---	---	---	-	46289388	G	-	46289388	7	5	305	1	0	1	0	1	0	0	0	0	4593	991	35	0	670	0	DMWD	19	46289388	Frame_Shift_Del	DEL	G	TCGA-KK-A59V-01A-11D-A29Q-08	20281	46289388	12839595	1022	15539											
MYPOP	339344	broad.mit.edu	37	chr19	46404622	46404622	+	Frame_Shift_Del	DEL	G	G	-																															gctgtgaagagggggccgcaGggggctcctccgccccagca																								rs371516350	byFrequency	TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:46404622delG	ENST00000322217.5	-	2	496	c.410delC	c.(409-411)cctfs	p.P137fs		NM_001012643.2	NP_001012661.1	Q86VE0	MYPOP_HUMAN	Myb-related transcription factor, partner of profilin	137	Pro-rich.					nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)			large_intestine(2)|lung(1)|skin(1)	4						GGGGGCCGCAGGGGGCTCCTC	0.706																																						ENST00000322217.5																			0				large_intestine(2)|lung(1)|skin(1)	4						c.(409-411)ctfs		Myb-related transcription factor, partner of profilin							4	6	5					19																	46404622		1940	3829	5769	SO:0001589	frameshift_variant	339344					nucleus	DNA binding	g.chr19:46404622delG	BC044311	CCDS33055.1	19q13.32	2014-06-13			ENSG00000176182	ENSG00000176182			20178	protein-coding gene	gene with protein product	"p42 Myb-related transcription factor, partner of profilin"					15615774	Standard	NM_001012643		Approved	P42pop	uc002pdt.3	Q86VE0	OTTHUMG00000182486	ENST00000322217.5:c.410delC	19.37:g.46404622delG	ENSP00000325402:p.Pro137fs						p.P137fs	NM_001012643.2	NP_001012661.1	Q86VE0	MYPOP_HUMAN			2	496	-			137			Pro-rich.			Frame_Shift_Del	DEL	ENST00000322217.5	37	c.410delC	CCDS33055.1																																																																																				0.706	MYPOP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461684.1	NM_001012643		2	4						2	4	---	---	---	---	-	46404622	G	-	46404622	7	5	305	1	0	1	0	1	0	0	0	0	10099	1000	35	0	797	0	MYPOP	19	46404622	Frame_Shift_Del	DEL	G	TCGA-KK-A59V-01A-11D-A29Q-08	115234	46404622	12724361	1023	15540											
LIG1	3978	broad.mit.edu	37	chr19	48620981	48620981	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gctggggtccagccagtggtCgggaatcacagcgccatcta	8	7	14	12	2	2	0	1	0	1	0	4	1	3	1	3	4	2	1	3	4	2	1			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:48620981C>T	ENST00000263274.7	-	26	2916	c.2497G>A	c.(2497-2499)Gac>Aac	p.D833N	CTC-453G23.5_ENST00000596839.1_RNA|LIG1_ENST00000536218.1_Missense_Mutation_p.D765N|LIG1_ENST00000427526.2_Missense_Mutation_p.D802N|CTC-453G23.5_ENST00000596563.1_RNA	NM_000234.1	NP_000225.1	P18858	DNLI1_HUMAN	ligase I, DNA, ATP-dependent	833					anatomical structure morphogenesis (GO:0009653)|base-excision repair (GO:0006284)|cell division (GO:0051301)|DNA biosynthetic process (GO:0071897)|DNA ligation involved in DNA repair (GO:0051103)|DNA metabolic process (GO:0006259)|DNA repair (GO:0006281)|DNA strand elongation involved in DNA replication (GO:0006271)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|double-strand break repair via nonhomologous end joining (GO:0006303)|lagging strand elongation (GO:0006273)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|response to hydrogen peroxide (GO:0042542)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	chromosome (GO:0005694)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA ligase (ATP) activity (GO:0003910)|DNA ligase activity (GO:0003909)|metal ion binding (GO:0046872)			breast(1)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(22)|prostate(2)|skin(1)	44		all_epithelial(76;3.1e-06)|all_lung(116;4.39e-06)|Lung NSC(112;8.96e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;8.45e-05)|all cancers(93;0.000423)|Epithelial(262;0.0177)|GBM - Glioblastoma multiforme(486;0.0329)	Bleomycin(DB00290)	AGCCAGTGGTCGGGAATCACA	0.642								Nucleotide excision repair (NER)																														ENST00000263274.7																			0				breast(1)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(22)|prostate(2)|skin(1)	44						c.(2497-2499)Gac>Aac	Nucleotide excision repair (NER)	ligase I, DNA, ATP-dependent	Bleomycin(DB00290)						37	31	33					19																	48620981		2203	4300	6503	SO:0001583	missense	3978				anatomical structure morphogenesis|base-excision repair|cell division|DNA ligation involved in DNA repair|DNA strand elongation involved in DNA replication|double-strand break repair via homologous recombination|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding	g.chr19:48620981C>T		CCDS12711.1, CCDS74409.1, CCDS74410.1	19q13.2-q13.3	2014-09-17				ENSG00000105486	6.5.1.1		6598	protein-coding gene	gene with protein product		126391					Standard	XM_005258934		Approved		uc002pia.1	P18858		ENST00000263274.7:c.2497G>A	19.37:g.48620981C>T	ENSP00000263274:p.Asp833Asn					LIG1_ENST00000427526.2_Missense_Mutation_p.D802N|LIG1_ENST00000536218.1_Missense_Mutation_p.D765N	p.D833N	NM_000234.1	NP_000225.1	P18858	DNLI1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;8.45e-05)|all cancers(93;0.000423)|Epithelial(262;0.0177)|GBM - Glioblastoma multiforme(486;0.0329)	26	2916	-		all_epithelial(76;3.1e-06)|all_lung(116;4.39e-06)|Lung NSC(112;8.96e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)	833					B2RAI8|Q2TB12|Q32P23	Missense_Mutation	SNP	ENST00000263274.7	37	c.2497G>A	CCDS12711.1	.	.	.	.	.	.	.	.	.	.	C	19.95	3.920948	0.73213	.	.	ENSG00000105486	ENST00000263274;ENST00000427526;ENST00000536218	T;T;T	0.65549	-0.16;-0.16;-0.16	4.71	4.71	0.59529	DNA ligase, ATP-dependent, C-terminal (1);Nucleic acid-binding, OB-fold-like (1);Nucleic acid-binding, OB-fold (1);	0.217534	0.45126	D	0.000390	T	0.74688	0.3749	H	0.96805	3.885	0.80722	D	1	P;P;P	0.35923	0.522;0.528;0.485	B;B;B	0.34452	0.183;0.166;0.128	T	0.82926	-0.0215	10	0.72032	D	0.01	-13.1741	15.5506	0.76148	0.0:1.0:0.0:0.0	.	802;765;833	B4DTU4;F5GZ28;P18858	.;.;DNLI1_HUMAN	N	833;802;765	ENSP00000263274:D833N;ENSP00000442841:D802N;ENSP00000441531:D765N	ENSP00000263274:D833N	D	-	1	0	LIG1	53312793	0.999000	0.42202	0.934000	0.37439	0.819000	0.46315	4.208000	0.58486	2.334000	0.79466	0.561000	0.74099	GAC		0.642	LIG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465575.1	NM_000234		10	28	0	0	0	1	0	10	28					T	48620981	C	T	48620981	3	4	305	1	0	0	0	0	1	0	0	0	8781	884	31	2	274	2	LIG1	19	48620981	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	2216359	48620981	10508002	1024	15541											
LIG1	3978	broad.mit.edu	37	chr19	48626217	48626217	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagttgtgcgatctcttggCgatctcgtaggtggcatcaa	7	12	12	10	3	3	0	1	0	2	0	5	2	3	0	1	3	1	3	1	3	2	3			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:48626217C>T	ENST00000263274.7	-	23	2625	c.2206G>A	c.(2206-2208)Gcc>Acc	p.A736T	CTC-453G23.5_ENST00000596839.1_RNA|LIG1_ENST00000536218.1_Missense_Mutation_p.A668T|LIG1_ENST00000427526.2_Missense_Mutation_p.A705T|CTC-453G23.5_ENST00000596563.1_RNA	NM_000234.1	NP_000225.1	P18858	DNLI1_HUMAN	ligase I, DNA, ATP-dependent	736					anatomical structure morphogenesis (GO:0009653)|base-excision repair (GO:0006284)|cell division (GO:0051301)|DNA biosynthetic process (GO:0071897)|DNA ligation involved in DNA repair (GO:0051103)|DNA metabolic process (GO:0006259)|DNA repair (GO:0006281)|DNA strand elongation involved in DNA replication (GO:0006271)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|double-strand break repair via nonhomologous end joining (GO:0006303)|lagging strand elongation (GO:0006273)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|response to hydrogen peroxide (GO:0042542)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	chromosome (GO:0005694)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA ligase (ATP) activity (GO:0003910)|DNA ligase activity (GO:0003909)|metal ion binding (GO:0046872)			breast(1)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(22)|prostate(2)|skin(1)	44		all_epithelial(76;3.1e-06)|all_lung(116;4.39e-06)|Lung NSC(112;8.96e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;8.45e-05)|all cancers(93;0.000423)|Epithelial(262;0.0177)|GBM - Glioblastoma multiforme(486;0.0329)	Bleomycin(DB00290)	GATCTCTTGGCGATCTCGTAG	0.597								Nucleotide excision repair (NER)																														ENST00000263274.7																			0				breast(1)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(22)|prostate(2)|skin(1)	44						c.(2206-2208)Gcc>Acc	Nucleotide excision repair (NER)	ligase I, DNA, ATP-dependent	Bleomycin(DB00290)						187	167	174					19																	48626217		2203	4300	6503	SO:0001583	missense	3978				anatomical structure morphogenesis|base-excision repair|cell division|DNA ligation involved in DNA repair|DNA strand elongation involved in DNA replication|double-strand break repair via homologous recombination|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding	g.chr19:48626217C>T		CCDS12711.1, CCDS74409.1, CCDS74410.1	19q13.2-q13.3	2014-09-17				ENSG00000105486	6.5.1.1		6598	protein-coding gene	gene with protein product		126391					Standard	XM_005258934		Approved		uc002pia.1	P18858		ENST00000263274.7:c.2206G>A	19.37:g.48626217C>T	ENSP00000263274:p.Ala736Thr					LIG1_ENST00000427526.2_Missense_Mutation_p.A705T|LIG1_ENST00000536218.1_Missense_Mutation_p.A668T|CTC-453G23.5_ENST00000596839.1_RNA|CTC-453G23.5_ENST00000596563.1_RNA	p.A736T	NM_000234.1	NP_000225.1	P18858	DNLI1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;8.45e-05)|all cancers(93;0.000423)|Epithelial(262;0.0177)|GBM - Glioblastoma multiforme(486;0.0329)	23	2625	-		all_epithelial(76;3.1e-06)|all_lung(116;4.39e-06)|Lung NSC(112;8.96e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)	736					B2RAI8|Q2TB12|Q32P23	Missense_Mutation	SNP	ENST00000263274.7	37	c.2206G>A	CCDS12711.1	.	.	.	.	.	.	.	.	.	.	C	34	5.322989	0.95708	.	.	ENSG00000105486	ENST00000263274;ENST00000544761;ENST00000427526;ENST00000536218	T;T;T	0.54479	0.57;0.57;0.57	4.97	4.97	0.65823	DNA ligase, ATP-dependent, central (2);DNA ligase, ATP-dependent, conserved site (1);	0.051859	0.85682	D	0.000000	T	0.77738	0.4175	M	0.91038	3.17	0.80722	D	1	D;D;D	0.89917	0.995;1.0;0.998	P;D;P	0.77004	0.893;0.989;0.893	T	0.81803	-0.0765	10	0.49607	T	0.09	-26.3684	16.0967	0.81129	0.0:1.0:0.0:0.0	.	705;668;736	B4DTU4;F5GZ28;P18858	.;.;DNLI1_HUMAN	T	736;767;705;668	ENSP00000263274:A736T;ENSP00000442841:A705T;ENSP00000441531:A668T	ENSP00000263274:A736T	A	-	1	0	LIG1	53318029	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	6.709000	0.74665	2.470000	0.83445	0.462000	0.41574	GCC		0.597	LIG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465575.1	NM_000234		40	124	0	0	0	1	0	40	124					T	48626217	C	T	48626217	3	4	305	1	0	0	0	0	1	0	0	0	8781	768	27	1	577	1	LIG1	19	48626217	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	5236	48626217	10502766	1025	15542											
LMTK3	114783	broad.mit.edu	37	chr19	49000732	49000732	+	Frame_Shift_Del	DEL	G	G	-																															gggcccttcctctcgggcttGggggggtccccgtctccgct																										TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:49000732delG	ENST00000600059.1	-	11	3821	c.3594delC	c.(3592-3594)cccfs	p.P1198fs	LMTK3_ENST00000270238.3_Frame_Shift_Del_p.P1227fs			Q96Q04	LMTK3_HUMAN	lemur tyrosine kinase 3	1198	Pro-rich.				negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(9)|prostate(1)	16		all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000114)|all cancers(93;0.000141)|Epithelial(262;0.00854)|GBM - Glioblastoma multiforme(486;0.0231)		TCTCGGGCTTGGGGGGGTCCC	0.711																																						ENST00000600059.1																			0				breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(9)|prostate(1)	16						c.(3592-3594)ccfs		lemur tyrosine kinase 3							29	33	32					19																	49000732		1919	4108	6027	SO:0001589	frameshift_variant	114783							g.chr19:49000732delG	AB067470	CCDS46136.1	19q13.33	2014-06-12				ENSG00000142235			19295	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 101"						Standard	NM_001080434		Approved	KIAA1883, LMR3, TYKLM3, PPP1R101	uc002pjk.3	Q96Q04		ENST00000600059.1:c.3594delC	19.37:g.49000732delG	ENSP00000472020:p.Pro1198fs					LMTK3_ENST00000270238.3_Frame_Shift_Del_p.P1227fs	p.P1198fs						OV - Ovarian serous cystadenocarcinoma(262;0.000114)|all cancers(93;0.000141)|Epithelial(262;0.00854)|GBM - Glioblastoma multiforme(486;0.0231)	11	3821	-		all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113)						Q4G0U1	Frame_Shift_Del	DEL	ENST00000600059.1	37	c.3594delC																																																																																					0.711	LMTK3-002	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000466137.1	NM_052895		18	59						18	59	---	---	---	---	-	49000732	G	-	49000732	7	5	305	1	0	1	0	1	0	0	0	0	8860	1335	47	0	808	0	LMTK3	19	49000732	Frame_Shift_Del	DEL	G	TCGA-KK-A59V-01A-11D-A29Q-08	374515	49000732	10128251	1026	15543											
PLEKHA4	57664	broad.mit.edu	37	chr19	49363681	49363681	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aggtcttctaaggtgtcagcGgccaaaacgtaggtcctcat	10	10	11	10	2	4	0	2	0	2	0	5	0	5	0	2	4	2	1	2	4	4	3			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:49363681G>A	ENST00000263265.6	-	6	957	c.402C>T	c.(400-402)gcC>gcT	p.A134A	PLEKHA4_ENST00000355496.5_Silent_p.A134A|PLEKHA4_ENST00000596713.1_5'Flank	NM_020904.2	NP_065955.2	Q9H4M7	PKHA4_HUMAN	pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 4	134	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.					cytoplasm (GO:0005737)|membrane (GO:0016020)	1-phosphatidylinositol binding (GO:0005545)			NS(1)|breast(5)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(3)|skin(2)|urinary_tract(2)	30		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;0.000108)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.00027)|all cancers(93;0.00084)|GBM - Glioblastoma multiforme(486;0.0244)|Epithelial(262;0.0364)		AGGTGTCAGCGGCCAAAACGT	0.652																																						ENST00000263265.6																			0				NS(1)|breast(5)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(3)|skin(2)|urinary_tract(2)	30						c.(400-402)gcC>gcT		pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 4							59	60	60					19																	49363681		2203	4300	6503	SO:0001819	synonymous_variant	0					cytoplasm|membrane	1-phosphatidylinositol binding	g.chr19:49363681G>A	AY007233	CCDS12737.1, CCDS54291.1	19q13.33	2013-01-10	2002-01-14			ENSG00000105559		"Pleckstrin homology (PH) domain containing"	14339	protein-coding gene	gene with protein product		607769	"pleckstrin homology domain-containing, family A (phosphoinositide binding specific) member 4"			11001876	Standard	NM_020904		Approved	PEPP1	uc002pkx.3	Q9H4M7		ENST00000263265.6:c.402C>T	19.37:g.49363681G>A						PLEKHA4_ENST00000355496.5_Silent_p.A134A	p.A134A	NM_020904.2	NP_065955.2	Q9H4M7	PKHA4_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00027)|all cancers(93;0.00084)|GBM - Glioblastoma multiforme(486;0.0244)|Epithelial(262;0.0364)	6	957	-		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;0.000108)|all_neural(266;0.0506)|Ovarian(192;0.113)	134			PH.		Q8N4M8|Q8N658	Silent	SNP	ENST00000263265.6	37	c.402C>T	CCDS12737.1																																																																																				0.652	PLEKHA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466216.1			30	76	0	0	0	1	0	30	76					A	49363681	G	A	49363681	2	1	305	1	0	0	0	0	0	0	0	1	12058	1103	39	2		2	PLEKHA4	19	49363681	Silent	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	362949	49363681	9765302	1027	15544											
DKKL1	27120	broad.mit.edu	37	chr19	49878142	49878142	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctcagcgagaagcgacacCgcctgcaggccatccgggat	9	4	14	14	4	1	1	1	0	0	1	2	4	2	2	4	3	3	2	4	3	1	0			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:49878142C>T	ENST00000221498.2	+	5	991	c.586C>T	c.(586-588)Cgc>Tgc	p.R196C	DKKL1_ENST00000594268.1_Missense_Mutation_p.R54C|AC010524.2_ENST00000599433.1_RNA	NM_014419.3	NP_055234.1	Q9UK85	DKKL1_HUMAN	dickkopf-like 1	196					anatomical structure morphogenesis (GO:0009653)|positive regulation of fat cell differentiation (GO:0045600)|signal transduction (GO:0007165)	extracellular space (GO:0005615)	signal transducer activity (GO:0004871)			large_intestine(2)|upper_aerodigestive_tract(1)	3		all_lung(116;1.66e-06)|Lung NSC(112;5.89e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00156)|GBM - Glioblastoma multiforme(486;0.0456)		GAAGCGACACCGCCTGCAGGC	0.662																																						ENST00000221498.2																			0				large_intestine(2)|upper_aerodigestive_tract(1)	3						c.(586-588)Cgc>Tgc		dickkopf-like 1							28	30	29					19																	49878142		2203	4300	6503	SO:0001583	missense	27120				anatomical structure morphogenesis	extracellular space	protein binding|signal transducer activity	g.chr19:49878142C>T	AB047816	CCDS12762.1	19q13.3	2010-10-12	2010-10-12		ENSG00000104901	ENSG00000104901			16528	protein-coding gene	gene with protein product	"cancer/testis antigen 34", "soggy"	605418	"dickkopf-like 1 (soggy)"			10570958	Standard	NM_001197301		Approved	SGY-1, CT34	uc002pnk.3	Q9UK85		ENST00000221498.2:c.586C>T	19.37:g.49878142C>T	ENSP00000221498:p.Arg196Cys					DKKL1_ENST00000594268.1_Missense_Mutation_p.R54C|AC010524.2_ENST00000599433.1_RNA	p.R196C	NM_014419.3	NP_055234.1	Q9UK85	DKKL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00156)|GBM - Glioblastoma multiforme(486;0.0456)	5	991	+		all_lung(116;1.66e-06)|Lung NSC(112;5.89e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)	196						Missense_Mutation	SNP	ENST00000221498.2	37	c.586C>T	CCDS12762.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.104365	0.76983	.	.	ENSG00000104901	ENST00000221498	T	0.21191	2.02	4.15	4.15	0.48705	.	0.000000	0.46145	D	0.000301	T	0.40694	0.1127	L	0.57536	1.79	0.49798	D	0.99982	D	0.89917	1.0	D	0.87578	0.998	T	0.19031	-1.0318	10	0.87932	D	0	-28.2624	12.2307	0.54486	0.0:1.0:0.0:0.0	.	196	Q9UK85	DKKL1_HUMAN	C	196	ENSP00000221498:R196C	ENSP00000221498:R196C	R	+	1	0	DKKL1	54569954	0.999000	0.42202	0.999000	0.59377	0.992000	0.81027	1.983000	0.40648	2.616000	0.88540	0.655000	0.94253	CGC		0.662	DKKL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465454.2	NM_014419		13	37	0	0	0	1	0	13	37					T	49878142	C	T	49878142	3	4	305	1	0	0	0	0	1	0	0	0	4548	652	23	2	604	2	DKKL1	19	49878142	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	514461	49878142	9250841	1028	15545											
POLD1	5424	broad.mit.edu	37	chr19	50905529	50905529	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	accgtggcgctgccgcgcctCgtggccccggcccgccgtct	1	6	14	20	8	1	0	0	0	1	0	2	0	1	0	7	3	1	1	7	3	0	0			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:50905529C>T	ENST00000440232.2	+	6	710	c.657C>T	c.(655-657)ctC>ctT	p.L219L	POLD1_ENST00000595904.1_Silent_p.L219L|POLD1_ENST00000599857.1_Silent_p.L219L	NM_001256849.1|NM_002691.3	NP_001243778.1|NP_002682.2	P28340	DPOD1_HUMAN	polymerase (DNA directed), delta 1, catalytic subunit	219					base-excision repair (GO:0006284)|base-excision repair, gap-filling (GO:0006287)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication proofreading (GO:0045004)|DNA replication, removal of RNA primer (GO:0043137)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA synthesis involved in DNA repair (GO:0000731)|fatty acid homeostasis (GO:0055089)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|regulation of mitotic cell cycle (GO:0007346)|response to UV (GO:0009411)|small molecule metabolic process (GO:0044281)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|delta DNA polymerase complex (GO:0043625)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleotide-excision repair complex (GO:0000109)|nucleus (GO:0005634)	3'-5' exonuclease activity (GO:0008408)|4 iron, 4 sulfur cluster binding (GO:0051539)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(6)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		all_neural(266;0.0571)		OV - Ovarian serous cystadenocarcinoma(262;0.00794)|GBM - Glioblastoma multiforme(134;0.0195)		TGCCGCGCCTCGTGGCCCCGG	0.687								DNA polymerases (catalytic subunits)																														ENST00000440232.2																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(6)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						c.(655-657)ctC>ctT	DNA polymerases (catalytic subunits)	polymerase (DNA directed), delta 1, catalytic subunit							30	35	33					19																	50905529		2194	4273	6467	SO:0001819	synonymous_variant	5424				base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|DNA synthesis involved in DNA repair|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|response to UV|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	delta DNA polymerase complex|nucleoplasm|nucleotide-excision repair complex	3'-5'-exodeoxyribonuclease activity|chromatin binding|DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding|protein binding	g.chr19:50905529C>T		CCDS12795.1	19q13.3	2014-09-17	2012-05-18		ENSG00000062822	ENSG00000062822		"DNA polymerases"	9175	protein-coding gene	gene with protein product	"CDC2 homolog (S. cerevisiae)"	174761	"polymerase (DNA directed), delta 1, catalytic subunit (125kD)"	POLD		1722322	Standard	NM_001256849		Approved	CDC2	uc002psc.5	P28340		ENST00000440232.2:c.657C>T	19.37:g.50905529C>T						POLD1_ENST00000595904.1_Silent_p.L219L|POLD1_ENST00000599857.1_Silent_p.L219L	p.L219L	NM_001256849.1|NM_002691.3	NP_001243778.1|NP_002682.2	P28340	DPOD1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00794)|GBM - Glioblastoma multiforme(134;0.0195)	6	710	+		all_neural(266;0.0571)	219					Q8NER3|Q96H98	Silent	SNP	ENST00000440232.2	37	c.657C>T	CCDS12795.1																																																																																				0.687	POLD1-002	KNOWN	alternative_5_UTR|NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464732.1			9	71	0	0	0	1	0	9	71					T	50905529	C	T	50905529	2	4	305	1	0	0	0	0	0	0	0	1	12190	871	31	2		2	POLD1	19	50905529	Silent	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	1027387	50905529	8223454	1029	15546											
MYBPC2	4606	broad.mit.edu	37	chr19	50944328	50944328	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taaggtcgaggtcaagaagaGtgcaggtcagccctggtctg	10	8	15	8	1	3	2	2	0	1	2	4	3	3	2	1	4	2	1	1	4	3	1	rs377503167		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:50944328G>A	ENST00000357701.5	+	8	815	c.764G>A	c.(763-765)aGt>aAt	p.S255N		NM_004533.3	NP_004524.3	Q14324	MYPC2_HUMAN	myosin binding protein C, fast type	255	Ig-like C2-type 2.				cell adhesion (GO:0007155)|muscle filament sliding (GO:0030049)	cytosol (GO:0005829)|myosin filament (GO:0032982)	structural constituent of muscle (GO:0008307)			breast(1)	1		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.0079)|GBM - Glioblastoma multiforme(134;0.0144)		GTCAAGAAGAGTGCAGGTCAG	0.567																																						ENST00000357701.5																			0				breast(1)	1						c.(763-765)aGt>aAt		myosin binding protein C, fast type							25	26	26					19																	50944328		2056	4218	6274	SO:0001583	missense	4606				cell adhesion|muscle filament sliding	cytosol|myosin filament	actin binding|structural constituent of muscle	g.chr19:50944328G>A		CCDS46152.1	19q13.33	2013-02-11	2001-11-28		ENSG00000086967	ENSG00000086967		"Myosin binding proteins", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	7550	protein-coding gene	gene with protein product	"fast-type muscle myosin-binding-protein C"	160793	"myosin-binding protein C, fast-type"			8375400	Standard	NM_004533		Approved	MYBPCF, MYBPC, MGC163408	uc002psf.2	Q14324		ENST00000357701.5:c.764G>A	19.37:g.50944328G>A	ENSP00000350332:p.Ser255Asn						p.S255N	NM_004533.3	NP_004524.3	Q14324	MYPC2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0079)|GBM - Glioblastoma multiforme(134;0.0144)	8	815	+		all_neural(266;0.057)	255			Ig-like C2-type 2.		A1L4G9	Missense_Mutation	SNP	ENST00000357701.5	37	c.764G>A	CCDS46152.1	.	.	.	.	.	.	.	.	.	.	.	21.1	4.101543	0.76983	.	.	ENSG00000086967	ENST00000357701	T	0.57907	0.37	3.33	3.33	0.38152	.	0.000000	0.41097	U	0.000950	T	0.73001	0.3531	M	0.87456	2.885	0.44976	D	0.997997	D	0.76494	0.999	D	0.77557	0.99	T	0.74411	-0.3674	10	0.27082	T	0.32	.	14.617	0.68556	0.0:0.0:1.0:0.0	.	255	Q14324	MYPC2_HUMAN	N	255	ENSP00000350332:S255N	ENSP00000350332:S255N	S	+	2	0	MYBPC2	55636140	1.000000	0.71417	0.994000	0.49952	0.849000	0.48306	8.865000	0.92300	2.176000	0.68965	0.298000	0.19748	AGT		0.567	MYBPC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464751.1	NM_004533		5	6	0	0	0	1	0	5	6					A	50944328	G	A	50944328	3	1	305	1	0	0	0	0	1	0	0	0	10012	1029	36	3	794	3	MYBPC2	19	50944328	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	38799	50944328	8184655	1030	15547											
C19orf63	284361	broad.mit.edu	37	chr19	50984001	50984001	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cacctcggtgcagctgcagcCgcccaccacagccccagggt	7	4	11	19	2	0	0	0	0	0	0	1	0	0	0	6	2	5	3	6	2	0	0	rs143536282		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:50984001C>T	ENST00000334976.6	+	5	612	c.566C>T	c.(565-567)cCg>cTg	p.P189L	EMC10_ENST00000598585.1_Missense_Mutation_p.P189L|EMC10_ENST00000376918.3_Missense_Mutation_p.P189L|CTD-2545M3.2_ENST00000598194.1_RNA	NM_206538.2	NP_996261.1	Q5UCC4	EMC10_HUMAN	ER membrane protein complex subunit 10	189						ER membrane protein complex (GO:0072546)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)											CAGCTGCAGCCGCCCACCACA	0.716																																						ENST00000376918.3																			0											c.(565-567)cCg>cTg		ER membrane protein complex subunit 10							21	24	23					19																	50984001		2195	4291	6486	SO:0001583	missense	284361							g.chr19:50984001C>T	BC062607	CCDS12796.1, CCDS42594.1	19q13.33	2012-05-30	2012-05-30	2012-05-30	ENSG00000161671	ENSG00000161671			27609	protein-coding gene	gene with protein product	"hematopoietic signal peptide-containing secreted 1", "hematopoietic signal peptide-containing membrane domain-containing 1"	614545	"chromosome 19 open reading frame 63"	C19orf63		12975309, 22119785	Standard	NM_175063		Approved	INM02, HSS1, HSM1	uc002psl.3	Q5UCC4		ENST00000334976.6:c.566C>T	19.37:g.50984001C>T	ENSP00000334037:p.Pro189Leu					CTD-2545M3.2_ENST00000598194.1_RNA|EMC10_ENST00000334976.6_Missense_Mutation_p.P189L|EMC10_ENST00000598585.1_Missense_Mutation_p.P189L	p.P189L	NM_175063.4	NP_778233.4					5	612	+								Q5UCC6|Q69YT5|Q6UWP3|Q86YL4|Q8N541	Missense_Mutation	SNP	ENST00000334976.6	37	c.566C>T	CCDS12796.1	.	.	.	.	.	.	.	.	.	.	C	6.848	0.525697	0.13066	.	.	ENSG00000161671	ENST00000334976;ENST00000376918;ENST00000376920	.	.	.	4.16	4.16	0.48862	.	0.125690	0.53938	D	0.000056	T	0.47432	0.1445	L	0.40543	1.245	0.49130	D	0.99975	P;D;P	0.64830	0.951;0.994;0.951	B;P;B	0.51385	0.309;0.668;0.309	T	0.31779	-0.9931	9	0.10902	T	0.67	-28.2643	10.2129	0.43152	0.3118:0.6882:0.0:0.0	.	189;189;189	Q5UCC4;Q5UCC4-2;Q5UCC4-3	INM02_HUMAN;.;.	L	189	.	ENSP00000334037:P189L	P	+	2	0	C19orf63	55675813	0.868000	0.29978	0.929000	0.37066	0.039000	0.13416	1.638000	0.37165	2.249000	0.74217	0.313000	0.20887	CCG		0.716	EMC10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000464760.2	NM_175063		3	13	0	0	0	1	0	3	13					T	50984001	C	T	50984001	3	4	305	1	0	0	0	0	1	0	0	0	1945	652	23	2	584	2	C19orf63	19	50984001	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	39673	50984001	8144982	1031	15548											
KLK8	11202	broad.mit.edu	37	chr19	51501092	51501093	+	Frame_Shift_Ins	INS	-	-	G																															agcatcctcacacttcttctINSggggaaagatttttacttct																										TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:51501092_51501093insG	ENST00000600767.1	-	6	1030_1031	c.541_542insC	c.(541-543)cagfs	p.Q181fs	KLK8_ENST00000320838.5_Intron|CTB-147C22.9_ENST00000594512.1_RNA|KLK8_ENST00000391806.2_Frame_Shift_Ins_p.Q226fs|KLK8_ENST00000598195.1_5'UTR|KLK8_ENST00000593490.1_Intron|KLK8_ENST00000347619.4_Frame_Shift_Ins_p.Q40fs|KLK8_ENST00000291726.7_Frame_Shift_Ins_p.Q181fs			O60259	KLK8_HUMAN	kallikrein-related peptidase 8	181	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				cell death (GO:0008219)|keratinocyte proliferation (GO:0043616)|memory (GO:0007613)|negative regulation of axon regeneration (GO:0048681)|negative regulation of myelination (GO:0031642)|neuron projection morphogenesis (GO:0048812)|regulation of synapse organization (GO:0050807)|response to wounding (GO:0009611)|synapse organization (GO:0050808)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	serine-type endopeptidase activity (GO:0004252)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(8)|prostate(1)	15		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.0033)|GBM - Glioblastoma multiforme(134;0.00888)		ACACTTCTTCTGGGGAAAGATT	0.52																																						ENST00000600767.1																			0				central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(8)|prostate(1)	15						c.(541-543)gaafs		kallikrein-related peptidase 8																																				SO:0001589	frameshift_variant	11202				cell death|keratinocyte proliferation|memory|negative regulation of axon regeneration|negative regulation of myelination|neuron projection morphogenesis|proteolysis|regulation of synapse organization|response to wounding	cytoplasm|extracellular space	protein binding|serine-type endopeptidase activity	g.chr19:51501092_51501093insG	AB008390	CCDS12813.1, CCDS12814.1, CCDS12815.1, CCDS42600.1, CCDS74433.1	19q13	2011-09-07	2006-10-27			ENSG00000129455		"Kallikreins", "Serine peptidases / Serine peptidases"	6369	protein-coding gene	gene with protein product		605644	"kallikrein 8 (neuropsin/ovasin)"	PRSS19		10102990, 9714609, 16800724, 16800723	Standard	NM_144505		Approved	HNP, TADG14, neuropsin, ovasin	uc002pur.1	O60259		ENST00000600767.1:c.542dupC	19.37:g.51501096_51501096dupG	ENSP00000472016:p.Gln181fs					CTB-147C22.9_ENST00000594512.1_RNA|KLK8_ENST00000598195.1_5'UTR|KLK8_ENST00000391806.2_Frame_Shift_Ins_p.E226fs|KLK8_ENST00000347619.4_Frame_Shift_Ins_p.E40fs|KLK8_ENST00000593490.1_Intron|KLK8_ENST00000291726.7_Frame_Shift_Ins_p.E181fs|KLK8_ENST00000320838.5_Intron	p.E181fs			O60259	KLK8_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0033)|GBM - Glioblastoma multiforme(134;0.00888)	6	1030_1031	-		all_neural(266;0.026)	181			Peptidase S1.		Q5V9X1|Q5V9X2|Q8IW69|Q9HCB3|Q9NR68|Q9NR69|Q9UIL9|Q9UQ47	Frame_Shift_Ins	INS	ENST00000600767.1	37	c.541_542insC	CCDS12813.1																																																																																				0.52	KLK8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465032.2	NM_007196		33	106						33	106	---	---	---	---	G	51501093	-	G	51501092	7	5	305	1	0	1	1	0	0	0	0	0	8410	1580	55	0	248	0	KLK8	19	51501092	Frame_Shift_Ins	INS	-	TCGA-KK-A59V-01A-11D-A29Q-08	517091	51501092	7627891	1032	15549											
SIGLEC14	100049587	broad.mit.edu	37	chr19	52147073	52147073	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acaggtgctgggagcccagcGgatgctgaacccggcaggtg	8	5	17	11	2	0	1	0	1	0	0	0	3	0	3	2	5	5	3	2	5	1	0	rs200742621		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:52147073G>A	ENST00000360844.6	-	5	1012	c.971C>T	c.(970-972)cCg>cTg	p.P324L	SIGLEC5_ENST00000599649.1_Intron|SIGLEC5_ENST00000534261.2_Intron|SIGLEC5_ENST00000429354.3_Intron|SIGLEC5_ENST00000222107.4_Intron	NM_001098612.1	NP_001092082.1	Q08ET2	SIG14_HUMAN	sialic acid binding Ig-like lectin 14	324	Ig-like C2-type 2.				cell adhesion (GO:0007155)|innate immune response (GO:0045087)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|upper_aerodigestive_tract(1)	29		all_neural(266;0.0299)		GBM - Glioblastoma multiforme(134;0.000965)|OV - Ovarian serous cystadenocarcinoma(262;0.0195)		GGAGCCCAGCGGATGCTGAAC	0.577													G|||	1	0.000199681	8e-04	0	5008	,	,		11945	0		0	False		,,,				2504	0					ENST00000360844.6																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|upper_aerodigestive_tract(1)	29						c.(970-972)cCg>cTg		sialic acid binding Ig-like lectin 14							47	54	52					19																	52147073		1802	4040	5842	SO:0001583	missense	100049587				cell adhesion	integral to membrane|plasma membrane	protein binding|sugar binding	g.chr19:52147073G>A	AY854038	CCDS42604.1	19q13.41	2013-01-29			ENSG00000254415	ENSG00000254415		"Sialic acid binding Ig-like lectins", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	32926	protein-coding gene	gene with protein product						17012248	Standard	NM_001098612		Approved		uc002pxf.4	Q08ET2	OTTHUMG00000165511	ENST00000360844.6:c.971C>T	19.37:g.52147073G>A	ENSP00000354090:p.Pro324Leu					SIGLEC5_ENST00000534261.2_Intron|SIGLEC5_ENST00000222107.4_Intron|SIGLEC5_ENST00000429354.3_Intron|SIGLEC5_ENST00000599649.1_Intron	p.P324L	NM_001098612.1	NP_001092082.1	Q08ET2	SIG14_HUMAN		GBM - Glioblastoma multiforme(134;0.000965)|OV - Ovarian serous cystadenocarcinoma(262;0.0195)	5	1012	-		all_neural(266;0.0299)	324			Ig-like C2-type 2.		Q6UXG0	Missense_Mutation	SNP	ENST00000360844.6	37	c.971C>T	CCDS42604.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	7.921	0.738609	0.15642	.	.	ENSG00000254415	ENST00000360844	T	0.13089	2.62	3.09	-3.75	0.04372	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.648533	0.12695	N	0.446807	T	0.08133	0.0203	L	0.49699	1.58	0.09310	N	1	P	0.45715	0.865	B	0.36335	0.222	T	0.14643	-1.0465	10	0.44086	T	0.13	.	2.5645	0.04779	0.3749:0.0:0.2594:0.3657	.	324	Q08ET2	SIG14_HUMAN	L	324	ENSP00000354090:P324L	ENSP00000354090:P324L	P	-	2	0	SIGLEC14	56838885	0.000000	0.05858	0.003000	0.11579	0.046000	0.14306	-0.346000	0.07760	-0.537000	0.06290	-0.251000	0.11542	CCG		0.577	SIGLEC14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466899.2	NM_001098612		29	64	0	0	0	1	0	29	64					A	52147073	G	A	52147073	3	1	305	1	0	0	0	0	1	0	0	0	14309	1116	39	2	231	2	SIGLEC14	19	52147073	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	645981	52147073	6981910	1033	15550											
ZNF701	55762	broad.mit.edu	37	chr19	53085961	53085961	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caagagaaaaatctttccaaCgtaatgagagtggcaaagcc	17	7	9	8	1	1	2	0	1	1	2	2	4	2	2	2	1	2	2	2	1	6	2	rs148286783		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:53085961C>T	ENST00000540331.1	+	5	1072	c.847C>T	c.(847-849)Cgt>Tgt	p.R283C	CTD-3099C6.7_ENST00000599222.1_RNA|ZNF701_ENST00000391785.3_Missense_Mutation_p.R217C|ZNF701_ENST00000301093.2_Missense_Mutation_p.R283C	NM_001172655.1	NP_001166126.1	Q9NV72	ZN701_HUMAN	zinc finger protein 701	283					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(5)|kidney(1)|large_intestine(2)|lung(6)	14				OV - Ovarian serous cystadenocarcinoma(262;0.0105)|GBM - Glioblastoma multiforme(134;0.0402)		ATCTTTCCAACGTAATGAGAG	0.353																																					NSCLC(89;451 1475 9611 20673 52284)	ENST00000540331.1																			0				endometrium(5)|kidney(1)|large_intestine(2)|lung(6)	14						c.(847-849)Cgt>Tgt		zinc finger protein 701		C	CYS/ARG,CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	58	62	61		847,649	0.6	0	19	dbSNP_134	61	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	ZNF701	NM_001172655.1,NM_018260.2	180,180	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	benign,benign	283/532,217/466	53085961	2,13004	2203	4300	6503	SO:0001583	missense	55762				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53085961C>T	AK001753	CCDS33092.1, CCDS54311.1	19q13.41	2013-01-08				ENSG00000167562		"Zinc fingers, C2H2-type", "-"	25597	protein-coding gene	gene with protein product							Standard	NM_018260		Approved	FLJ10891	uc021uyw.1	Q9NV72		ENST00000540331.1:c.847C>T	19.37:g.53085961C>T	ENSP00000444339:p.Arg283Cys					ZNF701_ENST00000301093.2_Missense_Mutation_p.R283C|ZNF701_ENST00000391785.3_Missense_Mutation_p.R217C|CTD-3099C6.7_ENST00000599222.1_RNA	p.R283C	NM_001172655.1	NP_001166126.1	Q9NV72	ZN701_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0105)|GBM - Glioblastoma multiforme(134;0.0402)	5	1072	+			217					A2RRM8|B9EGF2|F5GZM6|Q66K42	Missense_Mutation	SNP	ENST00000540331.1	37	c.847C>T	CCDS54311.1	.	.	.	.	.	.	.	.	.	.	c	0.003	-2.434173	0.00182	2.27E-4	1.16E-4	ENSG00000167562	ENST00000391785;ENST00000301093;ENST00000540331	T;T;T	0.04083	3.71;3.71;3.71	1.75	0.634	0.17718	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.00580	0.0019	N	0.00005	-3.26	0.09310	N	0.999999	B;B	0.09022	0.002;0.0	B;B	0.04013	0.001;0.0	T	0.45527	-0.9255	9	0.02654	T	1	.	4.8624	0.13590	0.0:0.1858:0.0:0.8142	.	283;217	F5GZM6;Q9NV72	.;ZN701_HUMAN	C	217;283;283	ENSP00000375662:R217C;ENSP00000301093:R283C;ENSP00000444339:R283C	ENSP00000301093:R283C	R	+	1	0	ZNF701	57777773	0.568000	0.26635	0.006000	0.13384	0.002000	0.02628	0.869000	0.27996	-0.012000	0.14223	-0.521000	0.04368	CGT		0.353	ZNF701-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000463467.1	NM_018260		24	48	0	0	0	1	0	24	48					T	53085961	C	T	53085961	3	4	305	1	0	0	0	0	1	0	0	0	18102	536	19	1	861	1	ZNF701	19	53085961	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	938888	53085961	6043022	1034	15551											
ZNF665	79788	broad.mit.edu	37	chr19	53678733	53678733	+	Intron	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctataattctccaacatgAcgtccctgtacaaagtcttc	11	13	4	13	1	2	1	0	1	2	0	6	1	4	1	3	0	2	1	3	0	5	5			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:53678733A>G	ENST00000600412.1	-	2	63				ZNF665_ENST00000396424.3_Missense_Mutation_p.V36A			Q9H7R5	ZN665_HUMAN	zinc finger protein 665						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	35				GBM - Glioblastoma multiforme(134;0.0196)		CTCCAACATGACGTCCCTGTA	0.458																																						ENST00000396424.3																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	35						c.(106-108)gTc>gCc		zinc finger protein 665							136	141	140					19																	53678733		2203	4300	6503	SO:0001627	intron_variant	79788				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53678733A>G		CCDS46169.1	19q13.42	2013-01-08				ENSG00000197497		"Zinc fingers, C2H2-type", "-"	25885	protein-coding gene	gene with protein product							Standard	NM_024733		Approved	FLJ14345	uc010eqm.1	Q9H7R5		ENST00000600412.1:c.53-9133T>C	19.37:g.53678733A>G						ZNF665_ENST00000600412.1_Intron	p.V36A	NM_024733.3	NP_079009.3	Q9H7R5	ZN665_HUMAN		GBM - Glioblastoma multiforme(134;0.0196)	3	196	-			0					A8K5T8	Missense_Mutation	SNP	ENST00000600412.1	37	c.107T>C		.	.	.	.	.	.	.	.	.	.	A	11.75	1.731280	0.30684	.	.	ENSG00000197497	ENST00000396424	T	0.03951	3.75	2.67	2.67	0.31697	.	.	.	.	.	T	0.09247	0.0228	.	.	.	0.23287	N	0.997976	P	0.50528	0.936	P	0.50405	0.64	T	0.15867	-1.0422	8	0.87932	D	0	.	8.8024	0.34916	1.0:0.0:0.0:0.0	.	36	Q9H7R5-2	.	A	36	ENSP00000379702:V36A	ENSP00000379702:V36A	V	-	2	0	ZNF665	58370545	0.947000	0.32204	0.300000	0.25030	0.013000	0.08279	1.728000	0.38105	1.214000	0.43395	0.533000	0.62120	GTC		0.458	ZNF665-002	PUTATIVE	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000464179.1	NM_024733		4	140	0	0	0	1	0	4	140					G	53678733	A	G	53678733	1	3	305	0	1	0	0	0	0	0	0	0	18070	275	10	4		4	ZNF665	19	53678733	Intron	SNP	A	TCGA-KK-A59V-01A-11D-A29Q-08	592772	53678733	5450250	1035	15552											
ZNF765	91661	broad.mit.edu	37	chr19	53911653	53911653	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgtggcaagaccttcagtcAgacatattacctaacatgcc	12	10	8	11	0	2	2	2	0	0	2	2	2	2	2	3	1	3	1	3	1	4	4			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:53911653A>G	ENST00000396408.3	+	4	962	c.845A>G	c.(844-846)cAg>cGg	p.Q282R	ZNF765_ENST00000594030.1_Intron	NM_001040185.1	NP_001035275.1	Q7L2R6	ZN765_HUMAN	zinc finger protein 765	282					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|lung(3)	4				GBM - Glioblastoma multiforme(134;0.00379)		ACCTTCAGTCAGACATATTAC	0.413																																						ENST00000396408.3																			0				endometrium(1)|lung(3)	4						c.(844-846)cAg>cGg		zinc finger protein 765							107	105	106					19																	53911653		2203	4300	6503	SO:0001583	missense	91661				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53911653A>G	BC017357	CCDS46171.1	19q13.41	2013-01-08				ENSG00000196417		"Zinc fingers, C2H2-type", "-"	25092	protein-coding gene	gene with protein product						12477932	Standard	XR_430215		Approved		uc002qbm.3	Q7L2R6		ENST00000396408.3:c.845A>G	19.37:g.53911653A>G	ENSP00000379689:p.Gln282Arg					ZNF765_ENST00000594030.1_Intron	p.Q282R	NM_001040185.1	NP_001035275.1	Q7L2R6	ZN765_HUMAN		GBM - Glioblastoma multiforme(134;0.00379)	4	962	+			282					A8MYG0|B4DF18|B7ZAI5|B9EIL1|Q9BV49	Missense_Mutation	SNP	ENST00000396408.3	37	c.845A>G	CCDS46171.1	.	.	.	.	.	.	.	.	.	.	A	4.609	0.113193	0.08831	.	.	ENSG00000196417	ENST00000396408	T	0.01139	5.28	0.207	-0.414	0.12359	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.00815	0.0027	N	0.16478	0.41	0.09310	N	1	B	0.17465	0.022	B	0.27796	0.083	T	0.48670	-0.9015	8	.	.	.	.	1.4251	0.02321	0.3433:0.0:0.3195:0.3372	.	282	Q7L2R6	ZN765_HUMAN	R	282	ENSP00000379689:Q282R	.	Q	+	2	0	ZNF765	58603465	0.000000	0.05858	0.026000	0.17262	0.026000	0.11368	-0.541000	0.06099	-0.808000	0.04387	-0.805000	0.03199	CAG		0.413	ZNF765-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371603.1	NM_138372		36	86	0	0	0	1	0	36	86					G	53911653	A	G	53911653	3	3	305	1	0	0	0	0	1	0	0	0	18136	188	7	4	855	4	ZNF765	19	53911653	Missense_Mutation	SNP	A	TCGA-KK-A59V-01A-11D-A29Q-08	232920	53911653	5217330	1036	15553											
CNOT3	4849	broad.mit.edu	37	chr19	54646863	54646863	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctccctggccaggtgagattGatcgctgcctcaagaaggtg	8	9	13	11	1	1	3	1	2	0	2	3	4	2	3	3	3	1	1	3	3	2	1			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:54646863G>A	ENST00000406403.1	+	2	1637	c.34G>A	c.(34-36)Gat>Aat	p.D12N	CNOT3_ENST00000358389.3_5'UTR|CNOT3_ENST00000221232.5_Missense_Mutation_p.D12N			O75175	CNOT3_HUMAN	CCR4-NOT transcription complex, subunit 3	12					gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|regulation of stem cell maintenance (GO:2000036)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|transcription, DNA-templated (GO:0006351)|trophectodermal cell differentiation (GO:0001829)	CCR4-NOT complex (GO:0030014)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|nucleus (GO:0005634)		p.D12H(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(7)|urinary_tract(3)	28	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					AGGTGAGATTGATCGCTGCCT	0.537																																						ENST00000406403.1																			1	Substitution - Missense(1)	p.D12H(1)	urinary_tract(1)	endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(7)|urinary_tract(3)	28						c.(34-36)Gat>Aat		CCR4-NOT transcription complex, subunit 3							189	186	187					19																	54646863		2203	4300	6503	SO:0001583	missense	4849				nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding	g.chr19:54646863G>A	AF180474	CCDS12880.1	19q13.4	2011-02-14			ENSG00000088038	ENSG00000088038			7879	protein-coding gene	gene with protein product	"NOT3 (negative regulator of transcription 3, yeast) homolog"	604910		NOT3		10637334, 9734811	Standard	NM_014516		Approved	NOT3H, KIAA0691, LENG2	uc002qdj.2	O75175	OTTHUMG00000066468	ENST00000406403.1:c.34G>A	19.37:g.54646863G>A	ENSP00000383954:p.Asp12Asn					CNOT3_ENST00000221232.5_Missense_Mutation_p.D12N|CNOT3_ENST00000358389.3_5'UTR	p.D12N			O75175	CNOT3_HUMAN			2	1637	+	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)		12					Q9NZN7|Q9UF76	Missense_Mutation	SNP	ENST00000406403.1	37	c.34G>A	CCDS12880.1	.	.	.	.	.	.	.	.	.	.	G	34	5.354605	0.95854	.	.	ENSG00000088038	ENST00000221232;ENST00000406403	T;T	0.69561	-0.41;-0.41	5.04	5.04	0.67666	Not CCR4-Not complex component, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.83413	0.5249	M	0.85710	2.77	0.80722	D	1	D;D	0.71674	0.998;0.995	D;D	0.69824	0.966;0.95	D	0.86390	0.1735	10	0.87932	D	0	-19.6694	17.5375	0.87837	0.0:0.0:1.0:0.0	.	12;12	B7Z6J7;O75175	.;CNOT3_HUMAN	N	12	ENSP00000221232:D12N;ENSP00000383954:D12N	ENSP00000221232:D12N	D	+	1	0	CNOT3	59338675	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.832000	0.92079	2.512000	0.84698	0.655000	0.94253	GAT		0.537	CNOT3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142130.3	NM_014516		61	170	0	0	0	1	0	61	170					A	54646863	G	A	54646863	3	1	305	1	0	0	0	0	1	0	0	0	3620	1290	45	3	40	3	CNOT3	19	54646863	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	735210	54646863	4482120	1037	15554											
LENG1	79165	broad.mit.edu	37	chr19	54663422	54663422	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acgtgccagctcttcttgggCaagatattcatggcgtcgta	8	12	11	10	3	3	1	1	0	2	1	4	1	3	1	1	2	2	3	1	2	3	5			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:54663422C>T	ENST00000222224.3	-	1	198	c.12G>A	c.(10-12)ttG>ttA	p.L4L		NM_024316.1	NP_077292.1	Q96BZ8	LENG1_HUMAN	leukocyte receptor cluster (LRC) member 1	4										breast(1)|endometrium(3)|large_intestine(2)|lung(1)|ovary(1)	8	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					TCTTCTTGGGCAAGATATTCA	0.627											OREG0003639	type=REGULATORY REGION|Gene=LENG1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																										ENST00000222224.3																			0				breast(1)|endometrium(3)|large_intestine(2)|lung(1)|ovary(1)	8						c.(10-12)ttG>ttA		leukocyte receptor cluster (LRC) member 1							38	30	33					19																	54663422		2203	4300	6503	SO:0001819	synonymous_variant	79165							g.chr19:54663422C>T	AF211966	CCDS12881.1	19q13.4	2008-02-05			ENSG00000105617	ENSG00000105617			15502	protein-coding gene	gene with protein product						10941842	Standard	NM_024316		Approved		uc002qdm.3	Q96BZ8	OTTHUMG00000066486	ENST00000222224.3:c.12G>A	19.37:g.54663422C>T			OREG0003639	type=REGULATORY REGION|Gene=LENG1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	1002		p.L4L	NM_024316.1	NP_077292.1	Q96BZ8	LENG1_HUMAN			1	198	-	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)		4					Q9HCU7	Silent	SNP	ENST00000222224.3	37	c.12G>A	CCDS12881.1																																																																																				0.627	LENG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142159.1	NM_024316		5	15	0	0	0	1	0	5	15					T	54663422	C	T	54663422	2	4	305	1	0	0	0	0	0	0	0	1	8723	709	25	3		3	LENG1	19	54663422	Silent	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	16559	54663422	4465561	1038	15555											
KIR2DL1	3811	broad.mit.edu	37	chr19	55284917	55284917	+	Intron	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagagaggggatgtttaacgAcactttgcgcctcattggag	10	10	13	8	2	1	1	1	0	0	1	1	5	1	3	1	3	2	1	1	3	1	4			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:55284917A>T	ENST00000538269.1	+	2	61				KIR2DL1_ENST00000336077.6_Missense_Mutation_p.D68V|KIR2DL3_ENST00000434419.2_Intron|KIR3DL1_ENST00000402254.2_Intron|KIR2DL1_ENST00000291633.7_Missense_Mutation_p.D68V|CTB-61M7.1_ENST00000400864.3_RNA|KIR2DL4_ENST00000396284.2_Intron|KIR3DL1_ENST00000541392.1_Intron			P43629	KI3L1_HUMAN	killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1						immune response (GO:0006955)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	HLA-B specific inhibitory MHC class I receptor activity (GO:0030109)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	11				GBM - Glioblastoma multiforme(193;0.0192)		ATGTTTAACGACACTTTGCGC	0.517																																						ENST00000336077.6																			0				breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	17						c.(202-204)gAc>gTc		killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 1							100	88	92					19																	55284917		2174	4192	6366	SO:0001627	intron_variant	3802				immune response|natural killer cell inhibitory signaling pathway	integral to plasma membrane	protein binding|receptor activity	g.chr19:55284917A>T	L41269	CCDS42621.1	19q13.4	2014-05-22			ENSG00000167633	ENSG00000167633		"Killer cell immunoglobulin-like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6338	protein-coding gene	gene with protein product		604946		KIR		7716543, 7749980	Standard	NM_013289		Approved	cl-2, NKB1, cl-11, nkat3, NKB1B, AMB11, CD158e1/2, CD158E1, CD158e2		P43629	OTTHUMG00000065933	ENST00000538269.1:c.35-44072A>T	19.37:g.55284917A>T						CTB-61M7.1_ENST00000400864.3_RNA|KIR2DL1_ENST00000291633.7_Missense_Mutation_p.D68V|KIR2DL3_ENST00000434419.2_Intron|KIR3DL1_ENST00000402254.2_Intron|KIR2DL4_ENST00000396284.2_Intron|KIR3DL1_ENST00000541392.1_Intron|KIR3DL1_ENST00000538269.1_Intron	p.D68V	NM_014218.2	NP_055033.2	P43626	KI2L1_HUMAN		GBM - Glioblastoma multiforme(193;0.0192)	3	243	+			68			Ig-like C2-type 1.		O43473|Q14946|Q16541	Missense_Mutation	SNP	ENST00000538269.1	37	c.203A>T		.	.	.	.	.	.	.	.	.	.	A	6.044	0.376454	0.11466	.	.	ENSG00000125498	ENST00000336077;ENST00000291633	T;T	0.19938	2.11;2.11	1.24	-1.83	0.07833	.	.	.	.	.	T	0.18299	0.0439	M	0.69185	2.1	0.09310	N	1	P;B	0.38922	0.651;0.106	B;B	0.37091	0.241;0.053	T	0.16867	-1.0388	9	0.87932	D	0	.	2.2416	0.04021	0.4528:0.3145:0.2327:0.0	.	68;68	Q6IST4;Q6H2H3	.;.	V	68	ENSP00000336769:D68V;ENSP00000291633:D68V	ENSP00000291633:D68V	D	+	2	0	KIR2DL1	59976729	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.105000	0.15333	-0.584000	0.05913	0.327000	0.21459	GAC		0.517	KIR3DL1-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_013289		5	127	0	0	0	1	0	5	127					T	55284917	A	T	55284917	1	4	305	0	1	0	0	0	0	0	0	0	8316	275	10	5		5	KIR2DL1	19	55284917	Intron	SNP	A	TCGA-KK-A59V-01A-11D-A29Q-08	621495	55284917	3844066	1039	15556											
TMEM86B	255043	broad.mit.edu	37	chr19	55738740	55738740	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccgccctgggccaggccgcGccacagcatggccatcagga	7	3	13	18	3	1	0	1	0	0	0	1	1	1	1	6	4	1	1	6	4	0	0			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:55738740G>A	ENST00000327042.4	-	3	1012	c.490C>T	c.(490-492)Cgc>Tgc	p.R164C	AC010327.2_ENST00000598855.1_Silent_p.A34A	NM_173804.4	NP_776165.3	Q8N661	TM86B_HUMAN	transmembrane protein 86B	164					ether lipid metabolic process (GO:0046485)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	alkenylglycerophosphocholine hydrolase activity (GO:0047408)|alkenylglycerophosphoethanolamine hydrolase activity (GO:0047409)			skin(2)	2			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0443)		GCCAGGCCGCGCCACAGCATG	0.706																																						ENST00000327042.4																			0				skin(2)	2						c.(490-492)Cgc>Tgc		transmembrane protein 86B							14	15	15					19																	55738740		2187	4290	6477	SO:0001583	missense	255043				ether lipid metabolic process	cytoplasmic part|integral to membrane	alkenylglycerophosphocholine hydrolase activity|alkenylglycerophosphoethanolamine hydrolase activity	g.chr19:55738740G>A	BC023000	CCDS12920.1	19q13.42	2011-07-12					3.3.2.2, 3.3.2.5		28448	protein-coding gene	gene with protein product						21515882	Standard	NM_173804		Approved	MGC30208	uc002qju.3	Q8N661		ENST00000327042.4:c.490C>T	19.37:g.55738740G>A	ENSP00000321038:p.Arg164Cys					AC010327.2_ENST00000598855.1_Silent_p.A34A	p.R164C	NM_173804.4	NP_776165.3	Q8N661	TM86B_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0443)	3	1012	-			164						Missense_Mutation	SNP	ENST00000327042.4	37	c.490C>T	CCDS12920.1	.	.	.	.	.	.	.	.	.	.	.	15.09	2.729146	0.48833	.	.	ENSG00000180089	ENST00000327042	T	0.23754	1.89	4.79	3.75	0.43078	.	0.091630	0.43260	D	0.000584	T	0.50205	0.1602	M	0.85542	2.76	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.52343	-0.8588	10	0.66056	D	0.02	.	7.4699	0.27342	0.0872:0.0:0.7481:0.1646	.	164	Q8N661	TM86B_HUMAN	C	164	ENSP00000321038:R164C	ENSP00000321038:R164C	R	-	1	0	TMEM86B	60430552	1.000000	0.71417	0.989000	0.46669	0.130000	0.20726	1.675000	0.37555	1.164000	0.42652	-0.136000	0.14681	CGC		0.706	TMEM86B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452659.1	NM_173804		7	16	0	0	0	1	0	7	16					A	55738740	G	A	55738740	3	1	305	1	0	0	0	0	1	0	0	0	16206	1087	38	1	194	1	TMEM86B	19	55738740	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	453823	55738740	3390243	1040	15557											
SUV420H2	84787	broad.mit.edu	37	chr19	55853590	55853590	+	Frame_Shift_Del	DEL	C	C	-																															ccctctcccccagccctgtgCcccccctgcggcgacagcag																										TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:55853590delC	ENST00000255613.3	+	3	366	c.118delC	c.(118-120)cccfs	p.P41fs	AC020922.1_ENST00000539076.1_Intron|SUV420H2_ENST00000402499.4_Intron	NM_032701.3	NP_116090.2	Q86Y97	SV422_HUMAN	suppressor of variegation 4-20 homolog 2 (Drosophila)	41					histone H4-K20 trimethylation (GO:0034773)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	condensed nuclear chromosome, centromeric region (GO:0000780)|nuclear heterochromatin (GO:0005720)|nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)	histone methyltransferase activity (H4-K20 specific) (GO:0042799)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(2)	4	Breast(117;0.191)		BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.044)		CAGCCCTGTGCCCCCCCTGCG	0.716																																						ENST00000255613.3																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(2)	4						c.(118-120)ccfs		suppressor of variegation 4-20 homolog 2 (Drosophila)							8	10	9					19																	55853590		2162	4246	6408	SO:0001589	frameshift_variant	84787				regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding	g.chr19:55853590delC	BC005842	CCDS12922.1	19q13.42	2011-07-01			ENSG00000133247	ENSG00000133247		"Chromatin-modifying enzymes / K-methyltransferases"	28405	protein-coding gene	gene with protein product		613198				12477932	Standard	NM_032701		Approved	MGC2705, KMT5C	uc002qkj.4	Q86Y97	OTTHUMG00000150483	ENST00000255613.3:c.118delC	19.37:g.55853590delC	ENSP00000255613:p.Pro41fs					AC020922.1_ENST00000539076.1_Intron|SUV420H2_ENST00000402499.4_Intron	p.P41fs	NM_032701.3	NP_116090.2	Q86Y97	SV422_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.044)	3	366	+	Breast(117;0.191)		41					Q8WZ10|Q9BRZ6	Frame_Shift_Del	DEL	ENST00000255613.3	37	c.118delC	CCDS12922.1																																																																																				0.716	SUV420H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318309.2	NM_032701		9	22						9	22	---	---	---	---	-	55853590	C	-	55853590	7	5	305	1	0	1	0	1	0	0	0	0	15412	739	26	0	124	0	SUV420H2	19	55853590	Frame_Shift_Del	DEL	C	TCGA-KK-A59V-01A-11D-A29Q-08	114850	55853590	3275393	1041	15558											
EPN1	29924	broad.mit.edu	37	chr19	56206666	56206666	+	Frame_Shift_Del	DEL	C	C	-																															ttggcgggggccctggcctgCcccccatgatgcccccgggc																										TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:56206666delC	ENST00000270460.6	+	11	1986	c.1675delC	c.(1675-1677)cccfs	p.P560fs	EPN1_ENST00000085079.7_Frame_Shift_Del_p.P534fs|AC010525.7_ENST00000589698.1_lincRNA|EPN1_ENST00000411543.2_Frame_Shift_Del_p.P646fs|AC010525.6_ENST00000587937.1_lincRNA|AC010525.4_ENST00000585559.1_RNA	NM_001130072.1	NP_001123544.1	Q9Y6I3	EPN1_HUMAN	epsin 1	560	3 X 3 AA repeats of N-P-F.|Ala/Gly/Pro-rich.				embryonic organ development (GO:0048568)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|female pregnancy (GO:0007565)|in utero embryonic development (GO:0001701)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|Notch signaling pathway (GO:0007219)	coated pit (GO:0005905)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)			endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|skin(1)	17		Colorectal(82;0.00244)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.112)		CCCTGGCCTGCCCCCCATGAT	0.697																																						ENST00000411543.2																			0				endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|skin(1)	17						c.(1933-1935)ccfs		epsin 1							7	9	8					19																	56206666		1853	4020	5873	SO:0001589	frameshift_variant	29924				endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	coated pit|cytoplasm|nucleus|plasma membrane	lipid binding	g.chr19:56206666delC	AF073727	CCDS46198.1, CCDS46199.1, CCDS46200.1	19q13.42	2014-08-12			ENSG00000063245	ENSG00000063245			21604	protein-coding gene	gene with protein product		607262				9723620, 10557078	Standard	NM_001130072		Approved		uc002qlx.3	Q9Y6I3	OTTHUMG00000180911	ENST00000270460.6:c.1675delC	19.37:g.56206666delC	ENSP00000270460:p.Pro560fs					EPN1_ENST00000270460.6_Frame_Shift_Del_p.P560fs|EPN1_ENST00000085079.7_Frame_Shift_Del_p.P534fs	p.P646fs	NM_001130071.1	NP_001123543.1	Q9Y6I3	EPN1_HUMAN		GBM - Glioblastoma multiforme(193;0.112)	11	2480	+		Colorectal(82;0.00244)|Ovarian(87;0.133)	560					Q86ST3|Q9HA18	Frame_Shift_Del	DEL	ENST00000270460.6	37	c.1933delC	CCDS46199.1																																																																																				0.697	EPN1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453610.1	NM_013333		8	9						8	9	---	---	---	---	-	56206666	C	-	56206666	7	5	305	1	0	1	0	1	0	0	0	0	5185	739	26	0	2054	0	EPN1	19	56206666	Frame_Shift_Del	DEL	C	TCGA-KK-A59V-01A-11D-A29Q-08	353076	56206666	2922317	1042	15559											
NLRP8	126205	broad.mit.edu	37	chr19	56466960	56466961	+	Frame_Shift_Ins	INS	-	-	T																															ccctcgtgacttttcaggaaINSttttttgcggccttgtttta																										TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:56466960_56466961insT	ENST00000291971.3	+	3	1607_1608	c.1536_1537insT	c.(1537-1539)tttfs	p.F513fs	NLRP8_ENST00000590542.1_Frame_Shift_Ins_p.F513fs	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	513	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				neuron death (GO:0070997)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)			breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		CTTTTCAGGAATTTTTTGCGGC	0.465																																						ENST00000291971.3																			0				breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35						c.(1534-1539)gattttfs		NLR family, pyrin domain containing 8																																				SO:0001589	frameshift_variant	126205					cytoplasm	ATP binding	g.chr19:56466960_56466961insT	AY154463	CCDS12937.1	19q13.43	2008-02-05	2006-12-08	2006-12-08		ENSG00000179709		"Nucleotide-binding domain and leucine rich repeat containing"	22940	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 8"	609659	"NACHT, leucine rich repeat and PYD containing 8"	NALP8		12563287	Standard	NM_176811		Approved	NOD16, PAN4, CLR19.2	uc002qmh.3	Q86W28		ENST00000291971.3:c.1542dupT	19.37:g.56466966_56466966dupT	ENSP00000291971:p.Phe513fs					NLRP8_ENST00000590542.1_Frame_Shift_Ins_p.DF512fs	p.DF512fs	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN		GBM - Glioblastoma multiforme(193;0.0695)	3	1607_1608	+		Colorectal(82;0.000147)|Ovarian(87;0.17)	512			NACHT.		Q7RTR4	Frame_Shift_Ins	INS	ENST00000291971.3	37	c.1536_1537insT	CCDS12937.1																																																																																				0.465	NLRP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457462.1	NM_176811		68	217						68	217	---	---	---	---	T	56466961	-	T	56466960	7	5	305	1	0	1	1	0	0	0	0	0	10483	98	4	0	1546	0	NLRP8	19	56466960	Frame_Shift_Ins	INS	-	TCGA-KK-A59V-01A-11D-A29Q-08	260294	56466960	2662023	1043	15560											
ZNF787	126208	broad.mit.edu	37	chr19	56599606	56599606	+	Frame_Shift_Del	DEL	C	C	-																															agatgtgggccggctcctcgCcccccgccgccccgagcccg																										TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:56599606delC	ENST00000270459.3	-	3	1053	c.935delG	c.(934-936)ggcfs	p.G312fs		NM_001002836.2	NP_001002836	Q6DD87	ZN787_HUMAN	zinc finger protein 787	312					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|lung(2)|pancreas(1)	5		Colorectal(82;3.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0559)		CGGCTCCTCGCCCCCCGCCGC	0.761																																						ENST00000270459.3																			0				central_nervous_system(1)|endometrium(1)|lung(2)|pancreas(1)	5						c.(934-936)gcfs		zinc finger protein 787							3	3	3					19																	56599606		1234	2913	4147	SO:0001589	frameshift_variant	126208				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:56599606delC	BC077728, AF000560	CCDS42634.1	19q13.42	2013-01-08				ENSG00000142409		"Zinc fingers, C2H2-type"	26998	protein-coding gene	gene with protein product							Standard	NM_001002836		Approved		uc010eth.1	Q6DD87		ENST00000270459.3:c.935delG	19.37:g.56599606delC	ENSP00000270459:p.Gly312fs						p.G312fs	NM_001002836.2	NP_001002836.2	Q6DD87	ZN787_HUMAN		GBM - Glioblastoma multiforme(193;0.0559)	3	1053	-		Colorectal(82;3.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)	312					O00455	Frame_Shift_Del	DEL	ENST00000270459.3	37	c.935delG	CCDS42634.1																																																																																				0.761	ZNF787-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457498.1	NM_001002836		6	8						6	8	---	---	---	---	-	56599606	C	-	56599606	7	5	305	1	0	1	0	1	0	0	0	0	18156	739	26	0	220	0	ZNF787	19	56599606	Frame_Shift_Del	DEL	C	TCGA-KK-A59V-01A-11D-A29Q-08	132646	56599606	2529377	1044	15561											
ZNF549	256051	broad.mit.edu	37	chr19	58048626	58048626	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttctgagcagactctttctgCgcaaggagtgtcacaggcca	9	10	11	11	1	4	2	1	1	3	1	4	3	4	3	1	2	2	2	1	2	1	2			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:58048626C>T	ENST00000376233.3	+	4	435	c.254C>T	c.(253-255)gCg>gTg	p.A85V	ZNF549_ENST00000602149.1_Intron|ZNF550_ENST00000601415.1_Intron|ZNF549_ENST00000594943.1_Intron|ZNF549_ENST00000240719.3_Missense_Mutation_p.A72V	NM_001199295.1	NP_001186224	Q6P9A3	ZN549_HUMAN	zinc finger protein 549	85	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(8)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	21		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		ACTCTTTCTGCGCAAGGAGTG	0.453																																						ENST00000376233.3																			0				NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(8)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	21						c.(253-255)gCg>gTg		zinc finger protein 549							114	102	106					19																	58048626		2203	4300	6503	SO:0001583	missense	256051				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58048626C>T	AK092236	CCDS12952.1, CCDS56106.1	19q13.43	2013-01-08				ENSG00000121406		"Zinc fingers, C2H2-type", "-"	26632	protein-coding gene	gene with protein product						12477932	Standard	NM_153263		Approved	FLJ34917	uc002qpb.2	Q6P9A3		ENST00000376233.3:c.254C>T	19.37:g.58048626C>T	ENSP00000365407:p.Ala85Val					ZNF549_ENST00000602149.1_Intron|ZNF550_ENST00000601415.1_Intron|ZNF549_ENST00000240719.3_Missense_Mutation_p.A72V|ZNF549_ENST00000594943.1_Intron	p.A85V	NM_001199295.1	NP_001186224.1	Q6P9A3	ZN549_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)	4	435	+		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)	85			KRAB.		B3KV91|O43336|Q8NAR4	Missense_Mutation	SNP	ENST00000376233.3	37	c.254C>T	CCDS56106.1	.	.	.	.	.	.	.	.	.	.	C	0.010	-1.743933	0.00675	.	.	ENSG00000121406	ENST00000240719;ENST00000376233	T;T	0.04970	3.54;3.52	2.28	-2.44	0.06502	Krueppel-associated box (1);	.	.	.	.	T	0.01558	0.0050	N	0.00422	-1.515	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.47182	-0.9137	9	0.28530	T	0.3	.	6.475	0.22031	0.0:0.4175:0.0:0.5825	.	85;72	Q6P9A3;Q6P9A3-2	ZN549_HUMAN;.	V	72;85	ENSP00000240719:A72V;ENSP00000365407:A85V	ENSP00000240719:A72V	A	+	2	0	ZNF549	62740438	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.030000	0.03581	-0.664000	0.05324	-0.812000	0.03155	GCG		0.453	ZNF549-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466780.1	NM_153263		22	81	0	0	0	1	0	22	81					T	58048626	C	T	58048626	3	4	305	1	0	0	0	0	1	0	0	0	17978	768	27	1	225	1	ZNF549	19	58048626	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	1449020	58048626	1080357	1045	15562											
ZNF530	348327	broad.mit.edu	37	chr19	58117717	58117717	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atgtagtgaatgtgggaaatCatttagtcgcaaaactcacc	14	11	9	7	1	2	1	2	1	0	0	3	2	2	2	1	1	1	2	1	1	6	3			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:58117717C>T	ENST00000332854.6	+	3	1044	c.824C>T	c.(823-825)tCa>tTa	p.S275L	ZNF530_ENST00000597864.1_Intron	NM_020880.3	NP_065931.3	Q6P9A1	ZN530_HUMAN	zinc finger protein 530	275					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(6)|skin(1)	20		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0443)|Breast(46;0.0848)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		TGTGGGAAATCATTTAGTCGC	0.433																																						ENST00000332854.6																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(6)|skin(1)	20						c.(823-825)tCa>tTa		zinc finger protein 530							95	84	87					19																	58117717		2203	4300	6503	SO:0001583	missense	348327				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58117717C>T	AK096831	CCDS12955.1	19q13.43	2013-01-08				ENSG00000183647		"Zinc fingers, C2H2-type", "-"	29297	protein-coding gene	gene with protein product						10819331	Standard	NM_020880		Approved	KIAA1508	uc002qpk.2	Q6P9A1		ENST00000332854.6:c.824C>T	19.37:g.58117717C>T	ENSP00000332861:p.Ser275Leu					ZNF530_ENST00000597864.1_Intron	p.S275L	NM_020880.3	NP_065931.3	Q6P9A1	ZN530_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)	3	1044	+		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0443)|Breast(46;0.0848)|Renal(1328;0.157)	275					O43340|Q9P220	Missense_Mutation	SNP	ENST00000332854.6	37	c.824C>T	CCDS12955.1	.	.	.	.	.	.	.	.	.	.	C	13.00	2.107806	0.37242	.	.	ENSG00000183647	ENST00000332854	T	0.07800	3.16	1.62	-1.28	0.09318	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.05318	0.0141	L	0.41027	1.25	0.09310	N	1	P	0.48089	0.905	B	0.36885	0.235	T	0.32079	-0.9920	9	0.46703	T	0.11	.	3.6699	0.08270	0.0:0.3922:0.2022:0.4056	.	275	Q6P9A1	ZN530_HUMAN	L	275	ENSP00000332861:S275L	ENSP00000332861:S275L	S	+	2	0	ZNF530	62809529	0.009000	0.17119	0.000000	0.03702	0.567000	0.35839	-2.328000	0.01112	-0.273000	0.09246	0.537000	0.68136	TCA		0.433	ZNF530-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466797.1	NM_020880		22	49	0	0	0	1	0	22	49					T	58117717	C	T	58117717	3	4	305	1	0	0	0	0	1	0	0	0	17968	838	29	3	834	3	ZNF530	19	58117717	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	69091	58117717	1011266	1046	15563											
ZNF551	90233	broad.mit.edu	37	chr19	58198231	58198231	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccacggacctactccaacaCgaagccactcccagtggtga	11	5	8	17	2	0	1	0	1	0	0	2	3	2	2	5	2	3	0	5	2	3	1	rs150173912	byFrequency	TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:58198231C>T	ENST00000282296.5	+	3	773	c.588C>T	c.(586-588)caC>caT	p.H196H	ZNF551_ENST00000596085.1_Intron|AC003006.7_ENST00000599221.1_Intron|AC003006.7_ENST00000594684.1_Intron|ZNF551_ENST00000356715.4_Silent_p.H180H			Q7Z340	ZN551_HUMAN	zinc finger protein 551	196					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(4)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)	15		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		TACTCCAACACGAAGCCACTC	0.498													C|||	2	0.000399361	0	0.0014	5008	,	,		20263	0		0.001	False		,,,				2504	0					ENST00000282296.5																			0				endometrium(4)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)	15						c.(586-588)caC>caT		zinc finger protein 551		C		0,4406		0,0,2203	50	54	52		540	-3.8	0	19	dbSNP_134	52	6,8592	5.0+/-18.6	0,6,4293	no	coding-synonymous	ZNF551	NM_138347.3		0,6,6496	TT,TC,CC		0.0698,0.0,0.0461		180/655	58198231	6,12998	2203	4299	6502	SO:0001819	synonymous_variant	90233				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58198231C>T	BX538151	CCDS12959.1, CCDS12959.2	19q13.43	2013-09-20			ENSG00000204519	ENSG00000204519		"Zinc fingers, C2H2-type", "-"	25108	protein-coding gene	gene with protein product							Standard	NM_138347		Approved	DKFZp686H1038	uc002qpw.5	Q7Z340	OTTHUMG00000183470	ENST00000282296.5:c.588C>T	19.37:g.58198231C>T						AC003006.7_ENST00000599221.1_Intron|AC003006.7_ENST00000596085.1_Intron|ZNF551_ENST00000356715.4_Silent_p.H180H	p.H196H	NM_001270938.1	NP_001257867.1	Q7Z340	ZN551_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)	3	773	+		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)	196					B4DU22|P17034|Q8N246|Q9BRY1	Silent	SNP	ENST00000282296.5	37	c.588C>T	CCDS12959.2																																																																																				0.498	ZNF551-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466803.2	NM_138347		14	73	0	0	0	1	0	14	73					T	58198231	C	T	58198231	2	4	305	1	0	0	0	0	0	0	0	1	17980	535	19	1		1	ZNF551	19	58198231	Silent	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	80514	58198231	930752	1047	15564											
PSMF1	9491	broad.mit.edu	37	chr20	1106142	1106142	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaactgtggtcttcccagcCgggtcccaatgataagaagt	10	10	10	11	1	2	2	1	1	1	1	4	2	4	2	3	2	2	0	3	2	4	2	rs372603862		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr20:1106142C>T	ENST00000335877.6	+	2	307	c.131C>T	c.(130-132)cCg>cTg	p.P44L	PSMF1_ENST00000381898.4_5'UTR|PSMF1_ENST00000333082.3_Splice_Site_p.P44L|PSMF1_ENST00000246015.4_Splice_Site_p.P44L|PSMF1_ENST00000438768.2_Splice_Site_p.P44L	NM_006814.3	NP_006805.2	Q92530	PSMF1_HUMAN	proteasome (prosome, macropain) inhibitor subunit 1 (PI31)	44	Important for homodimerization and interaction with FBXO7.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of proteasomal protein catabolic process (GO:1901799)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|proteasome core complex (GO:0005839)	endopeptidase inhibitor activity (GO:0004866)|proteasome binding (GO:0070628)			endometrium(1)|kidney(1)|large_intestine(3)|lung(8)	13						TCTTCCCAGCCGGGTCCCAAT	0.458																																						ENST00000335877.6																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(8)	13						c.e2-1		proteasome (prosome, macropain) inhibitor subunit 1 (PI31)		C	LEU/PRO,LEU/PRO	1,4405		0,1,2202	74	68	70		131,131	4.9	1	20		70	0,8600		0,0,4300	no	missense-near-splice,missense-near-splice	PSMF1	NM_006814.3,NM_178578.2	98,98	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign,benign	44/272,44/272	1106142	1,13005	2203	4300	6503	SO:0001630	splice_region_variant	9491				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome core complex	endopeptidase inhibitor activity|protein binding	g.chr20:1106142C>T	D88378	CCDS13010.1	20p13	2008-07-02			ENSG00000125818	ENSG00000125818		"Proteasome (prosome, macropain) subunits"	9571	protein-coding gene	gene with protein product	"proteasome inhibitor hP131 subunit"					10363639	Standard	NM_006814		Approved	PI31	uc002wen.4	Q92530	OTTHUMG00000031656	ENST00000335877.6:c.130-1C>T	20.37:g.1106142C>T						PSMF1_ENST00000246015.4_Splice_Site_p.P44_splice|PSMF1_ENST00000438768.2_Splice_Site_p.P44_splice|PSMF1_ENST00000381898.4_5'UTR|PSMF1_ENST00000333082.3_Splice_Site_p.P44_splice	p.P44_splice	NM_006814.3	NP_006805.2	Q92530	PSMF1_HUMAN			2	307	+			44					A0AVQ9|D3DVW3|Q9H4I1	Splice_Site	SNP	ENST00000335877.6	37	c.129_splice	CCDS13010.1	.	.	.	.	.	.	.	.	.	.	C	12.93	2.085916	0.36758	2.27E-4	0.0	ENSG00000125818	ENST00000333082;ENST00000381899;ENST00000246015;ENST00000335877;ENST00000438768	T;T;T;T;T	0.42900	0.96;0.96;0.96;0.96;0.96	4.87	4.87	0.63330	.	0.133439	0.50627	D	0.000113	T	0.57989	0.2091	L	0.55481	1.735	0.80722	D	1	D;P;P	0.89917	1.0;0.948;0.948	D;B;B	0.91635	0.999;0.396;0.236	T	0.51663	-0.8677	10	0.28530	T	0.3	-3.7779	15.0252	0.71663	0.0:1.0:0.0:0.0	.	44;44;44	E7ER20;Q5QPM7;Q92530	.;.;PSMF1_HUMAN	L	44	ENSP00000327704:P44L;ENSP00000371324:P44L;ENSP00000246015:P44L;ENSP00000338039:P44L;ENSP00000401404:P44L	ENSP00000246015:P44L	P	+	2	0	PSMF1	1054142	0.998000	0.40836	0.953000	0.39169	0.358000	0.29455	5.067000	0.64357	2.527000	0.85204	0.585000	0.79938	CCG		0.458	PSMF1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077504.2	NM_178578	Missense_Mutation	15	34	0	0	0	1	0	15	34					T	1106142	C	T	1106142	5	4	305	1	0	0	0	0	0	0	1	0	12710	666	23	2	137	2	PSMF1	20	1106142	Splice_Site	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08		1106142	61919378	1048	15565											
C20orf141	128653	broad.mit.edu	37	chr20	2796319	2796319	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggacaacttagcctccaggaCgcactgctgctgctgctcat	8	9	10	14	1	1	0	1	0	0	0	2	2	2	2	2	2	6	5	2	2	2	1	rs574582071		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr20:2796319C>T	ENST00000380589.4	+	2	570	c.396C>T	c.(394-396)gaC>gaT	p.D132D	C20orf141_ENST00000603872.1_Silent_p.D132D|TMEM239_ENST00000380585.1_5'Flank|TMEM239_ENST00000554164.1_Intron|TMEM239_ENST00000361033.1_5'Flank|TMEM239_ENST00000380593.4_Intron	NM_080739.2	NP_542777.1	Q9NUB4	CT141_HUMAN	chromosome 20 open reading frame 141	132	Leu-rich.					integral component of membrane (GO:0016021)				endometrium(4)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)	10						GCCTCCAGGACGCACTGCTGC	0.632													C|||	1	0.000199681	0	0	5008	,	,		18686	0		0	False		,,,				2504	0.001					ENST00000380589.4																			0				endometrium(4)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)	10						c.(394-396)gaC>gaT		chromosome 20 open reading frame 141							70	67	68					20																	2796319		2203	4300	6503	SO:0001819	synonymous_variant	128653					integral to membrane		g.chr20:2796319C>T		CCDS13034.1	20p13	2012-10-30			ENSG00000258713	ENSG00000258713			16134	protein-coding gene	gene with protein product							Standard	NM_001256538		Approved	dJ860F19.4	uc002wgw.3	Q9NUB4	OTTHUMG00000031707	ENST00000380589.4:c.396C>T	20.37:g.2796319C>T						TMEM239_ENST00000380593.4_Intron|TMEM239_ENST00000554164.1_Intron|C20orf141_ENST00000603872.1_Silent_p.D132D	p.D132D	NM_080739.2	NP_542777.1	Q9NUB4	CT141_HUMAN			2	570	+			132			Leu-rich.			Silent	SNP	ENST00000380589.4	37	c.396C>T	CCDS13034.1																																																																																				0.632	C20orf141-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077644.2	NM_080739		22	56	0	0	0	1	0	22	56					T	2796319	C	T	2796319	2	4	305	1	0	0	0	0	0	0	0	1	2089	535	19	1		1	C20orf141	20	2796319	Silent	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	1690177	2796319	60229201	1049	15566											
SIGLEC1	6614	broad.mit.edu	37	chr20	3677446	3677446	+	Frame_Shift_Del	DEL	G	G	-																															gaacaaggccagcaaggccaGggggcggctgtccacagtgc																										TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr20:3677446delG	ENST00000344754.4	-	10	2469	c.2470delC	c.(2470-2472)ctgfs	p.L824fs	SIGLEC1_ENST00000202578.4_Frame_Shift_Del_p.L824fs	NM_023068.3	NP_075556.1	Q9BZZ2	SN_HUMAN	sialic acid binding Ig-like lectin 1, sialoadhesin	824	Ig-like C2-type 8.				cell-matrix adhesion (GO:0007160)|endocytosis (GO:0006897)|inflammatory response (GO:0006954)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of T cell apoptotic process (GO:0070234)|single organismal cell-cell adhesion (GO:0016337)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)	70						AGCAAGGCCAGGGGGCGGCTG	0.637																																						ENST00000344754.4																			0				NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)	70						c.(2470-2472)tgfs		sialic acid binding Ig-like lectin 1, sialoadhesin							43	41	42					20																	3677446		2203	4300	6503	SO:0001589	frameshift_variant	6614				cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response	extracellular region|integral to membrane|plasma membrane	sugar binding	g.chr20:3677446delG	AF230073	CCDS13060.1	20p13	2013-01-29	2006-01-19	2006-01-19	ENSG00000088827	ENSG00000088827		"CD molecules", "Sialic acid binding Ig-like lectins", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	11127	protein-coding gene	gene with protein product		600751	"sialoadhesin"	SN		8530048	Standard	XM_006723610		Approved	SIGLEC-1, CD169, FLJ00051, FLJ00055, FLJ00073, FLJ32150, dJ1009E24.1, sialoadhesin	uc002wja.3	Q9BZZ2	OTTHUMG00000031757	ENST00000344754.4:c.2470delC	20.37:g.3677446delG	ENSP00000341141:p.Leu824fs					SIGLEC1_ENST00000202578.4_Frame_Shift_Del_p.L824fs	p.L824fs	NM_023068.3	NP_075556.1	Q9BZZ2	SN_HUMAN			10	2469	-			824			Ig-like C2-type 8.		Q96DL4|Q9GZS5|Q9H1H6|Q9H1H7|Q9H7L7	Frame_Shift_Del	DEL	ENST00000344754.4	37	c.2470delC	CCDS13060.1																																																																																				0.637	SIGLEC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077761.2	NM_023068		24	56						24	56	---	---	---	---	-	3677446	G	-	3677446	7	5	305	1	0	1	0	1	0	0	0	0	14305	991	35	0	2707	0	SIGLEC1	20	3677446	Frame_Shift_Del	DEL	G	TCGA-KK-A59V-01A-11D-A29Q-08	881127	3677446	59348074	1050	15567											
SIGLEC1	6614	broad.mit.edu	37	chr20	3686643	3686643	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gaagtccacctctgtgccctCgagaagctccaccggggagg	8	6	13	14	2	1	1	0	0	1	1	4	4	3	2	5	3	2	1	5	3	2	0	rs144297916		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr20:3686643C>T	ENST00000344754.4	-	3	453	c.454G>A	c.(454-456)Gag>Aag	p.E152K	SIGLEC1_ENST00000202578.4_Missense_Mutation_p.E152K	NM_023068.3	NP_075556.1	Q9BZZ2	SN_HUMAN	sialic acid binding Ig-like lectin 1, sialoadhesin	152	Ig-like C2-type 1.				cell-matrix adhesion (GO:0007160)|endocytosis (GO:0006897)|inflammatory response (GO:0006954)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of T cell apoptotic process (GO:0070234)|single organismal cell-cell adhesion (GO:0016337)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)	70						TCTGTGCCCTCGAGAAGCTCC	0.627																																						ENST00000344754.4																			0				NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)	70						c.(454-456)Gag>Aag		sialic acid binding Ig-like lectin 1, sialoadhesin		C	LYS/GLU	1,4405	2.1+/-5.4	0,1,2202	73	73	73		454	4.1	0.5	20	dbSNP_134	73	0,8600		0,0,4300	no	missense	SIGLEC1	NM_023068.3	56	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	152/1710	3686643	1,13005	2203	4300	6503	SO:0001583	missense	6614				cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response	extracellular region|integral to membrane|plasma membrane	sugar binding	g.chr20:3686643C>T	AF230073	CCDS13060.1	20p13	2013-01-29	2006-01-19	2006-01-19	ENSG00000088827	ENSG00000088827		"CD molecules", "Sialic acid binding Ig-like lectins", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	11127	protein-coding gene	gene with protein product		600751	"sialoadhesin"	SN		8530048	Standard	XM_006723610		Approved	SIGLEC-1, CD169, FLJ00051, FLJ00055, FLJ00073, FLJ32150, dJ1009E24.1, sialoadhesin	uc002wja.3	Q9BZZ2	OTTHUMG00000031757	ENST00000344754.4:c.454G>A	20.37:g.3686643C>T	ENSP00000341141:p.Glu152Lys					SIGLEC1_ENST00000202578.4_Missense_Mutation_p.E152K	p.E152K	NM_023068.3	NP_075556.1	Q9BZZ2	SN_HUMAN			3	453	-			152			Ig-like C2-type 1.		Q96DL4|Q9GZS5|Q9H1H6|Q9H1H7|Q9H7L7	Missense_Mutation	SNP	ENST00000344754.4	37	c.454G>A	CCDS13060.1	.	.	.	.	.	.	.	.	.	.	C	15.09	2.729010	0.48833	2.27E-4	0.0	ENSG00000088827	ENST00000344754;ENST00000202578	T;T	0.78246	-1.16;-1.16	5.01	4.07	0.47477	CD80-like, immunoglobulin C2-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.40640	N	0.001056	D	0.85725	0.5763	M	0.78801	2.425	0.36572	D	0.873048	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.998	D	0.86848	0.2021	10	0.39692	T	0.17	.	9.3004	0.37842	0.0:0.8999:0.0:0.1001	.	152;152;152	Q9BZZ2-2;Q9BZZ2;Q9BZZ2-3	.;SN_HUMAN;.	K	152	ENSP00000341141:E152K;ENSP00000202578:E152K	ENSP00000202578:E152K	E	-	1	0	SIGLEC1	3634643	0.863000	0.29885	0.466000	0.27168	0.143000	0.21401	2.060000	0.41394	1.114000	0.41781	0.462000	0.41574	GAG		0.627	SIGLEC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077761.2	NM_023068		35	72	0	0	0	1	0	35	72					T	3686643	C	T	3686643	3	4	305	1	0	0	0	0	1	0	0	0	14305	893	31	2	4751	2	SIGLEC1	20	3686643	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	9197	3686643	59338877	1051	15568											
SMOX	54498	broad.mit.edu	37	chr20	4163076	4163076	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggtcggtggtggtggagtGcgaggactgtgagctgatcc	5	10	20	6	2	0	2	0	2	0	0	2	5	1	4	1	6	2	1	1	6	0	0			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr20:4163076G>A	ENST00000305958.4	+	5	1175	c.950G>A	c.(949-951)tGc>tAc	p.C317Y	SMOX_ENST00000346595.2_Intron|SMOX_ENST00000339123.6_Intron|SMOX_ENST00000379460.2_Missense_Mutation_p.C317Y|SMOX_ENST00000278795.3_Intron	NM_175839.2	NP_787033.1	Q9NWM0	SMOX_HUMAN	spermine oxidase	317					cellular nitrogen compound metabolic process (GO:0034641)|oxidation-reduction process (GO:0055114)|polyamine biosynthetic process (GO:0006596)|polyamine catabolic process (GO:0006598)|polyamine metabolic process (GO:0006595)|small molecule metabolic process (GO:0044281)|spermine catabolic process (GO:0046208)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	N1-acetylspermine:oxygen oxidoreductase (N1-acetylspermidine-forming) activity (GO:0052895)|norspermine:oxygen oxidoreductase activity (GO:0052894)|polyamine oxidase activity (GO:0046592)|spermine:oxygen oxidoreductase (spermidine-forming) activity (GO:0052901)			breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(7)|lung(5)|skin(2)|urinary_tract(1)	26					Spermine(DB00127)	GTGGTGGAGTGCGAGGACTGT	0.642																																						ENST00000305958.4																			0				breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(7)|lung(5)|skin(2)|urinary_tract(1)	26						c.(949-951)tGc>tAc		spermine oxidase	Spermine(DB00127)						83	73	76					20																	4163076		2203	4300	6503	SO:0001583	missense	54498				polyamine biosynthetic process|xenobiotic metabolic process	cytosol|nucleus	polyamine oxidase activity	g.chr20:4163076G>A	AK000753	CCDS13075.1, CCDS13076.1, CCDS13077.1, CCDS13078.1, CCDS74702.1	20p13	2003-10-15	2003-10-15	2003-10-15	ENSG00000088826	ENSG00000088826			15862	protein-coding gene	gene with protein product		615854	"chromosome 20 open reading frame 16"	C20orf16		11454677, 12398765	Standard	NM_175839		Approved	FLJ20746, dJ779E11.1, PAO, PAOh1, MGC1010, SMO	uc002wkp.3	Q9NWM0	OTTHUMG00000031777	ENST00000305958.4:c.950G>A	20.37:g.4163076G>A	ENSP00000307252:p.Cys317Tyr					SMOX_ENST00000379460.2_Missense_Mutation_p.C317Y|SMOX_ENST00000278795.3_Intron|SMOX_ENST00000339123.6_Intron|SMOX_ENST00000346595.2_Intron	p.C317Y	NM_175839.1	NP_787033.1	Q9NWM0	SMOX_HUMAN			5	1175	+			317					A2A2P5|A2A2P6|A8BE87|D3DVZ4|Q5TE26|Q5TE27|Q6UY28|Q8IX00|Q96LC3|Q96LC4|Q96QT3|Q9BW38|Q9H6H1|Q9NP51|Q9NPY1|Q9NPY2	Missense_Mutation	SNP	ENST00000305958.4	37	c.950G>A	CCDS13075.1	.	.	.	.	.	.	.	.	.	.	G	15.67	2.902843	0.52227	.	.	ENSG00000088826	ENST00000305958;ENST00000379460;ENST00000457205	D;D;D	0.92805	-3.11;-3.11;-3.11	5.79	3.8	0.43715	Amine oxidase (1);	0.129975	0.64402	D	0.000001	D	0.94188	0.8135	H	0.95504	3.68	0.58432	D	0.99999	P;B	0.34462	0.454;0.188	B;B	0.39419	0.299;0.17	D	0.92367	0.5902	9	.	.	.	-17.1893	8.8803	0.35370	0.0784:0.0:0.7726:0.1491	.	317;317	Q9NWM0-6;Q9NWM0	.;SMOX_HUMAN	Y	317;317;174	ENSP00000307252:C317Y;ENSP00000368773:C317Y;ENSP00000407269:C174Y	.	C	+	2	0	SMOX	4111076	1.000000	0.71417	0.990000	0.47175	0.981000	0.71138	7.906000	0.87423	0.762000	0.33152	0.558000	0.71614	TGC		0.642	SMOX-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077806.1	NM_175842		16	50	0	0	0	1	0	16	50					A	4163076	G	A	4163076	3	1	305	1	0	0	0	0	1	0	0	0	14803	1319	46	3	964	3	SMOX	20	4163076	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	476433	4163076	58862444	1052	15569											
PLCB1	23236	broad.mit.edu	37	chr20	8678365	8678365	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agctggactgctggaagggaCggactgcagaagaggaacct	12	5	16	8	1	0	2	0	0	0	2	0	7	0	7	1	5	4	3	1	5	3	0			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr20:8678365C>T	ENST00000338037.6	+	11	1129	c.1102C>T	c.(1102-1104)Cgg>Tgg	p.R368W	PLCB1_ENST00000378637.2_Missense_Mutation_p.R368W|PLCB1_ENST00000378641.3_Missense_Mutation_p.R368W	NM_015192.2	NP_056007.1	Q9NQ66	PLCB1_HUMAN	phospholipase C, beta 1 (phosphoinositide-specific)	368	PI-PLC X-box. {ECO:0000255|PROSITE- ProRule:PRU00270}.				activation of meiosis involved in egg activation (GO:0060466)|cerebral cortex development (GO:0021987)|fat cell differentiation (GO:0045444)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|G2/M transition of mitotic cell cycle (GO:0000086)|glutamate receptor signaling pathway (GO:0007215)|inositol phosphate metabolic process (GO:0043647)|insulin-like growth factor receptor signaling pathway (GO:0048009)|interleukin-1-mediated signaling pathway (GO:0070498)|interleukin-12-mediated signaling pathway (GO:0035722)|interleukin-15-mediated signaling pathway (GO:0035723)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|memory (GO:0007613)|negative regulation of monocyte extravasation (GO:2000438)|negative regulation of transcription, DNA-templated (GO:0045892)|phosphatidylinositol metabolic process (GO:0046488)|positive regulation of acrosome reaction (GO:2000344)|positive regulation of CD24 biosynthetic process (GO:2000560)|positive regulation of developmental growth (GO:0048639)|positive regulation of embryonic development (GO:0040019)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of GTPase activity (GO:0043547)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of JNK cascade (GO:0046330)|positive regulation of myoblast differentiation (GO:0045663)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of fertilization (GO:0080154)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|GTPase activator activity (GO:0005096)|phosphatidylinositol phospholipase C activity (GO:0004435)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein homodimerization activity (GO:0042803)|signal transducer activity (GO:0004871)			NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						CTGGAAGGGACGGACTGCAGA	0.488																																						ENST00000378641.3																			0				NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						c.(1102-1104)Cgg>Tgg		phospholipase C, beta 1 (phosphoinositide-specific)							210	179	189					20																	8678365		2203	4300	6503	SO:0001583	missense	23236				activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission	cytosol|nuclear chromatin|nuclear speck	calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity	g.chr20:8678365C>T	AB011153	CCDS13102.1, CCDS13103.1	20p12	2008-03-18			ENSG00000182621	ENSG00000182621	3.1.4.11		15917	protein-coding gene	gene with protein product		607120				10760467, 11118617	Standard	NM_015192		Approved	KIAA0581, PLC-I, PLC154	uc002wnb.4	Q9NQ66	OTTHUMG00000031849	ENST00000338037.6:c.1102C>T	20.37:g.8678365C>T	ENSP00000338185:p.Arg368Trp					PLCB1_ENST00000338037.6_Missense_Mutation_p.R368W|PLCB1_ENST00000378637.2_Missense_Mutation_p.R368W	p.R368W	NM_182734.1	NP_877398.1	Q9NQ66	PLCB1_HUMAN			11	1577	+			368			PI-PLC X-box.		D3DW12|D3DW13|O60325|Q17RQ6|Q5TFF7|Q5TGC9|Q8IV93|Q9BQW2|Q9H4H2|Q9H8H5|Q9NQ65|Q9NQH9|Q9NTH4|Q9UJP6|Q9UM26	Missense_Mutation	SNP	ENST00000338037.6	37	c.1102C>T	CCDS13102.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.310342	0.81358	.	.	ENSG00000182621	ENST00000378641;ENST00000338037;ENST00000378637;ENST00000441163;ENST00000535719	T;T;T	0.53857	0.6;0.6;0.6	5.65	3.46	0.39613	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);Phospholipase C, phosphatidylinositol-specific , X domain (3);	0.000000	0.85682	D	0.000000	T	0.71576	0.3356	M	0.73962	2.25	0.54753	D	0.999987	D;D	0.89917	1.0;1.0	D;D	0.85130	0.989;0.997	T	0.77151	-0.2693	10	0.87932	D	0	.	15.389	0.74726	0.3052:0.6948:0.0:0.0	.	368;368	Q9NQ66;Q9NQ66-2	PLCB1_HUMAN;.	W	368;368;368;288;288	ENSP00000367908:R368W;ENSP00000338185:R368W;ENSP00000367904:R368W	ENSP00000338185:R368W	R	+	1	2	PLCB1	8626365	0.999000	0.42202	1.000000	0.80357	0.981000	0.71138	4.035000	0.57297	1.282000	0.44496	0.655000	0.94253	CGG		0.488	PLCB1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077938.3			46	98	0	0	0	1	0	46	98					T	8678365	C	T	8678365	3	4	305	1	0	0	0	0	1	0	0	0	12027	527	19	1	1144	1	PLCB1	20	8678365	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	4515289	8678365	54347155	1053	15570											
KIF16B	55614	broad.mit.edu	37	chr20	16359636	16359636	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggccagggcccgctccagcGcctctctctgctgcttctct	2	11	10	18	2	3	0	0	0	3	0	6	0	4	0	4	2	3	3	4	2	0	1	rs147683391		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr20:16359636G>A	ENST00000354981.2	-	19	3168	c.3011C>T	c.(3010-3012)gCg>gTg	p.A1004V	KIF16B_ENST00000355755.3_Missense_Mutation_p.A1004V|KIF16B_ENST00000378003.2_Missense_Mutation_p.A230V|KIF16B_ENST00000408042.1_Missense_Mutation_p.A1004V	NM_001199865.1|NM_024704.4	NP_001186794.1|NP_078980.3	Q96L93	KI16B_HUMAN	kinesin family member 16B	1004	Glu-rich.				ATP catabolic process (GO:0006200)|early endosome to late endosome transport (GO:0045022)|endoderm development (GO:0007492)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|formation of primary germ layer (GO:0001704)|Golgi to endosome transport (GO:0006895)|microtubule-based movement (GO:0007018)|receptor catabolic process (GO:0032801)|regulation of receptor recycling (GO:0001919)	early endosome (GO:0005769)|endosome (GO:0005768)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|plus-end-directed microtubule motor activity (GO:0008574)			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2)	74						CCGCTCCAGCGCCTCTCTCTG	0.552																																						ENST00000354981.2																			0				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2)	74						c.(3010-3012)gCg>gTg		kinesin family member 16B		G	VAL/ALA,VAL/ALA,VAL/ALA	0,4406		0,0,2203	90	95	93		3011,3011,3011	5.6	1	20	dbSNP_134	93	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	KIF16B	NM_001199865.1,NM_001199866.1,NM_024704.4	64,64,64	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging	1004/1267,1004/1393,1004/1318	16359636	1,13005	2203	4300	6503	SO:0001583	missense	55614				cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|Golgi to endosome transport|microtubule-based movement|receptor catabolic process|regulation of receptor recycling	early endosome membrane|microtubule	ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity	g.chr20:16359636G>A	AK000142	CCDS13122.1, CCDS56178.1	20p11.23	2008-03-03	2008-03-03	2008-03-03	ENSG00000089177	ENSG00000089177		"Kinesins"	15869	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 23"	C20orf23		16084724, 16782399	Standard	NM_024704		Approved	FLJ20135, dJ971B4.1, SNX23	uc010gci.2	Q96L93	OTTHUMG00000031927	ENST00000354981.2:c.3011C>T	20.37:g.16359636G>A	ENSP00000347076:p.Ala1004Val					KIF16B_ENST00000408042.1_Missense_Mutation_p.A1004V|KIF16B_ENST00000378003.2_Missense_Mutation_p.A230V|KIF16B_ENST00000355755.3_Missense_Mutation_p.A1004V	p.A1004V	NM_001199865.1|NM_024704.4	NP_001186794.1|NP_078980.3	Q96L93	KI16B_HUMAN			19	3168	-			1004			Glu-rich.		A6NKJ9|A7E2A8|B1AKG3|B1AKT7|C9JDN5|C9JI52|C9JSM8|C9JWJ7|Q2TBF5|Q5HYC0|Q5HYK1|Q5JWW3|Q5TFK5|Q86VL9|Q86YS5|Q8IYU0|Q9BQJ8|Q9BQM0|Q9BQM1|Q9BQM5|Q9H5U0|Q9HCI2|Q9NXN9	Missense_Mutation	SNP	ENST00000354981.2	37	c.3011C>T	CCDS13122.1	.	.	.	.	.	.	.	.	.	.	G	33	5.290940	0.95546	0.0	1.16E-4	ENSG00000089177	ENST00000354981;ENST00000355755;ENST00000377997;ENST00000378003;ENST00000408042	T;T;T;T	0.75477	-0.94;-0.92;1.27;-0.85	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	D	0.84822	0.5557	L	0.59436	1.845	0.58432	D	0.999998	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.998;0.998;0.999;0.996	D	0.84888	0.0835	10	0.56958	D	0.05	.	19.1862	0.93645	0.0:0.0:1.0:0.0	.	1004;1004;1004;1004	Q96L93-4;Q96L93-2;Q96L93-6;Q96L93	.;.;.;KI16B_HUMAN	V	1004;1004;848;230;1004	ENSP00000347076:A1004V;ENSP00000347995:A1004V;ENSP00000367242:A230V;ENSP00000384164:A1004V	ENSP00000347076:A1004V	A	-	2	0	KIF16B	16307636	1.000000	0.71417	0.968000	0.41197	0.935000	0.57460	7.400000	0.79949	2.642000	0.89623	0.643000	0.83706	GCG		0.552	KIF16B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078104.2	NM_017683		54	121	0	0	0	1	0	54	121					A	16359636	G	A	16359636	3	1	305	1	0	0	0	0	1	0	0	0	8278	1087	38	1	974	1	KIF16B	20	16359636	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	7681271	16359636	46665884	1054	15571											
KIF16B	55614	broad.mit.edu	37	chr20	16360535	16360535	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgttggagttcttcttggacGcggagaaaggtctcttcttc	6	14	12	9	3	4	1	0	0	4	1	6	4	4	3	0	4	0	2	0	4	1	6	rs367620646		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr20:16360535G>A	ENST00000354981.2	-	19	2269	c.2112C>T	c.(2110-2112)cgC>cgT	p.R704R	KIF16B_ENST00000355755.3_Silent_p.R704R|KIF16B_ENST00000378003.2_5'UTR|KIF16B_ENST00000408042.1_Silent_p.R704R	NM_001199865.1|NM_024704.4	NP_001186794.1|NP_078980.3	Q96L93	KI16B_HUMAN	kinesin family member 16B	704	Glu-rich.				ATP catabolic process (GO:0006200)|early endosome to late endosome transport (GO:0045022)|endoderm development (GO:0007492)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|formation of primary germ layer (GO:0001704)|Golgi to endosome transport (GO:0006895)|microtubule-based movement (GO:0007018)|receptor catabolic process (GO:0032801)|regulation of receptor recycling (GO:0001919)	early endosome (GO:0005769)|endosome (GO:0005768)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|plus-end-directed microtubule motor activity (GO:0008574)			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2)	74						CTTCTTGGACGCGGAGAAAGG	0.443																																						ENST00000354981.2																			0				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2)	74						c.(2110-2112)cgC>cgT		kinesin family member 16B		G	,,	0,4406		0,0,2203	150	134	139		2112,2112,2112	-10.8	0	20		139	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous	KIF16B	NM_001199865.1,NM_001199866.1,NM_024704.4	,,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,,	704/1267,704/1393,704/1318	16360535	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	55614				cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|Golgi to endosome transport|microtubule-based movement|receptor catabolic process|regulation of receptor recycling	early endosome membrane|microtubule	ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity	g.chr20:16360535G>A	AK000142	CCDS13122.1, CCDS56178.1	20p11.23	2008-03-03	2008-03-03	2008-03-03	ENSG00000089177	ENSG00000089177		"Kinesins"	15869	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 23"	C20orf23		16084724, 16782399	Standard	NM_024704		Approved	FLJ20135, dJ971B4.1, SNX23	uc010gci.2	Q96L93	OTTHUMG00000031927	ENST00000354981.2:c.2112C>T	20.37:g.16360535G>A						KIF16B_ENST00000408042.1_Silent_p.R704R|KIF16B_ENST00000378003.2_5'UTR|KIF16B_ENST00000355755.3_Silent_p.R704R	p.R704R	NM_001199865.1|NM_024704.4	NP_001186794.1|NP_078980.3	Q96L93	KI16B_HUMAN			19	2269	-			704			Glu-rich.		A6NKJ9|A7E2A8|B1AKG3|B1AKT7|C9JDN5|C9JI52|C9JSM8|C9JWJ7|Q2TBF5|Q5HYC0|Q5HYK1|Q5JWW3|Q5TFK5|Q86VL9|Q86YS5|Q8IYU0|Q9BQJ8|Q9BQM0|Q9BQM1|Q9BQM5|Q9H5U0|Q9HCI2|Q9NXN9	Silent	SNP	ENST00000354981.2	37	c.2112C>T	CCDS13122.1	.	.	.	.	.	.	.	.	.	.	G	0.011	-1.722132	0.00700	0.0	1.16E-4	ENSG00000089177	ENST00000450176	.	.	.	5.39	-10.8	0.00216	.	.	.	.	.	T	0.14356	0.0347	.	.	.	0.09310	N	0.999997	.	.	.	.	.	.	T	0.09684	-1.0663	4	.	.	.	.	1.9452	0.03355	0.3784:0.1339:0.0912:0.3965	.	.	.	.	V	139	.	.	A	-	2	0	KIF16B	16308535	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.702000	0.01901	-2.357000	0.00612	-0.832000	0.03076	GCG		0.443	KIF16B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078104.2	NM_017683		10	105	0	0	0	1	0	10	105					A	16360535	G	A	16360535	2	1	305	1	0	0	0	0	0	0	0	1	8278	1074	38	1		1	KIF16B	20	16360535	Silent	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	899	16360535	46664985	1055	15572											
C20orf26	26074	broad.mit.edu	37	chr20	20232315	20232315	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcgtggtgggtagaatgaccGgcatagaccgagcagccaag	11	6	15	9	3	0	3	0	1	0	2	1	4	0	3	3	3	2	3	3	3	4	2			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr20:20232315G>A	ENST00000245957.5	+	20	2312	c.2236G>A	c.(2236-2238)Ggc>Agc	p.G746S	C20orf26_ENST00000377309.2_Missense_Mutation_p.G102S|C20orf26_ENST00000377293.1_Missense_Mutation_p.G102S|C20orf26_ENST00000389656.3_Missense_Mutation_p.G102S	NM_015585.3	NP_056400.3	Q8NHU2	CT026_HUMAN		746										NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	77				READ - Rectum adenocarcinoma(2;0.171)		TAGAATGACCGGCATAGACCG	0.532																																						ENST00000245957.5																			0				NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	77						c.(2236-2238)Ggc>Agc		chromosome 20 open reading frame 26							193	162	172					20																	20232315		2203	4300	6503	SO:0001583	missense	26074							g.chr20:20232315G>A																												ENST00000245957.5:c.2236G>A	20.37:g.20232315G>A	ENSP00000245957:p.Gly746Ser					C20orf26_ENST00000389656.3_Missense_Mutation_p.G102S|C20orf26_ENST00000377293.1_Missense_Mutation_p.G102S|C20orf26_ENST00000377309.2_Missense_Mutation_p.G102S	p.G746S	NM_015585.3	NP_056400.3	Q8NHU2	CT026_HUMAN		READ - Rectum adenocarcinoma(2;0.171)	20	2312	+			746					A6NHA1|Q5JXV4|Q5TE18|Q8N5R9|Q96M59|Q9BQL2|Q9H127|Q9H128|Q9NQH4|Q9UFV8|Q9Y4V7	Missense_Mutation	SNP	ENST00000245957.5	37	c.2236G>A	CCDS33447.1	.	.	.	.	.	.	.	.	.	.	G	25.9	4.686431	0.88639	.	.	ENSG00000089101	ENST00000343997;ENST00000377309;ENST00000389656;ENST00000389655;ENST00000245957;ENST00000377293	T;T;T;T	0.32753	1.44;1.44;1.44;1.44	6.05	5.11	0.69529	.	0.351400	0.32624	N	0.005847	T	0.24890	0.0604	L	0.31065	0.9	0.28678	N	0.90524	P;B;B	0.46020	0.871;0.436;0.392	P;B;B	0.44696	0.458;0.067;0.055	T	0.09185	-1.0686	10	0.07175	T	0.84	.	15.1002	0.72269	0.0673:0.0:0.9327:0.0	.	726;102;746	F8W6K4;Q8NHU2-5;Q8NHU2	.;.;CT026_HUMAN	S	686;102;102;726;746;102	ENSP00000366524:G102S;ENSP00000374307:G102S;ENSP00000245957:G746S;ENSP00000366508:G102S	ENSP00000245957:G746S	G	+	1	0	C20orf26	20180315	1.000000	0.71417	0.532000	0.27989	0.982000	0.71751	3.209000	0.51122	1.565000	0.49641	0.650000	0.86243	GGC		0.532	C20orf26-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078228.3			40	94	0	0	0	1	0	40	94					A	20232315	G	A	20232315	3	1	305	1	0	0	0	0	1	0	0	0	2106	1116	39	2	2342	2	C20orf26	20	20232315	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	3871780	20232315	42793205	1056	15573											
GGTLC1	92086	broad.mit.edu	37	chr20	23966372	23966372	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgcagccggggctcctccaCggcccacttcacgtcatagc	6	7	11	17	3	2	0	2	0	0	0	4	0	4	0	4	3	3	2	4	3	1	2			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr20:23966372C>T	ENST00000335694.4	-	5	667	c.463G>A	c.(463-465)Gtg>Atg	p.V155M	GGTLC1_ENST00000278765.4_Missense_Mutation_p.V155M|GGTLC1_ENST00000286890.4_Missense_Mutation_p.V155M	NM_178311.2	NP_842563.1	Q9BX51	GGTL1_HUMAN	gamma-glutamyltransferase light chain 1	155					glutathione metabolic process (GO:0006749)|leukotriene biosynthetic process (GO:0019370)	anchored component of external side of plasma membrane (GO:0031362)	gamma-glutamyltransferase activity (GO:0003840)	p.V155M(2)		NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	15						GGCTCCTCCACGGCCCACTTC	0.612																																						ENST00000335694.4																			2	Substitution - Missense(2)	p.V155M(2)	lung(2)	NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	15						c.(463-465)Gtg>Atg		gamma-glutamyltransferase light chain 1							78	81	80					20																	23966372		2203	4295	6498	SO:0001583	missense	92086						gamma-glutamyltransferase activity	g.chr20:23966372C>T	AL133466	CCDS13163.1	20p11.21	2010-07-14	2008-03-10	2008-03-10	ENSG00000149435	ENSG00000149435		"Gamma-glutamyltransferases"	16437	protein-coding gene	gene with protein product		612338	"gamma-glutamyltransferase-like activity 4", "gamma-glutamyltransferase-like activity 3"	GGTLA4, GGTLA3		10843999, 18357469	Standard	NM_178311		Approved	dJ831C21.2, dJ831C21.1	uc002wtu.3	Q9BX51	OTTHUMG00000032095	ENST00000335694.4:c.463G>A	20.37:g.23966372C>T	ENSP00000337587:p.Val155Met					GGTLC1_ENST00000286890.4_Missense_Mutation_p.V155M|GGTLC1_ENST00000278765.4_Missense_Mutation_p.V155M	p.V155M	NM_178311.2	NP_842563.1	Q9BX51	GGTL1_HUMAN			5	667	-			155					D3DW43|Q08246	Missense_Mutation	SNP	ENST00000335694.4	37	c.463G>A	CCDS13163.1	.	.	.	.	.	.	.	.	.	.	c	12.28	1.889480	0.33348	.	.	ENSG00000149435	ENST00000286890;ENST00000278765;ENST00000335694	T;T;T	0.10477	2.87;2.87;2.87	0.844	0.844	0.18943	.	0.070075	0.56097	D	0.000030	T	0.17408	0.0418	M	0.85542	2.76	0.35280	D	0.781245	P	0.52692	0.955	P	0.46076	0.503	T	0.22661	-1.0210	10	0.42905	T	0.14	-18.564	7.477	0.27382	0.0:0.9999:0.0:1.0E-4	.	155	Q9BX51	GGTL1_HUMAN	M	155	ENSP00000286890:V155M;ENSP00000278765:V155M;ENSP00000337587:V155M	ENSP00000278765:V155M	V	-	1	0	GGTLC1	23914372	0.994000	0.37717	0.183000	0.23137	0.185000	0.23345	3.462000	0.53042	0.088000	0.17205	0.089000	0.15464	GTG		0.612	GGTLC1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078366.2	NM_178311.2		17	167	0	0	0	1	0	17	167					T	23966372	C	T	23966372	3	4	305	1	0	0	0	0	1	0	0	0	6365	536	19	1	222	1	GGTLC1	20	23966372	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	3734057	23966372	39059148	1057	15574											
NINL	22981	broad.mit.edu	37	chr20	25472047	25472047	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcagcctgcaggcgccccacGtcccactccagcgcggccct	5	5	10	21	4	1	0	1	0	0	0	3	0	3	0	6	2	3	1	6	2	0	0			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr20:25472047G>A	ENST00000278886.6	-	11	1498	c.1425C>T	c.(1423-1425)gaC>gaT	p.D475D	NINL_ENST00000422516.1_Silent_p.D475D	NM_025176.4	NP_079452.3	Q9Y2I6	NINL_HUMAN	ninein-like	475					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	cytosol (GO:0005829)|microtubule (GO:0005874)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(13)|lung(25)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	57						GGCGCCCCACGTCCCACTCCA	0.701																																						ENST00000278886.6																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(13)|lung(25)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	57						c.(1423-1425)gaC>gaT		ninein-like							56	60	58					20																	25472047		2203	4300	6503	SO:0001819	synonymous_variant	22981				G2/M transition of mitotic cell cycle	cytosol|microtubule|microtubule organizing center	calcium ion binding	g.chr20:25472047G>A		CCDS33452.1	20p11.22-p11.1	2013-01-10			ENSG00000101004	ENSG00000101004		"EF-hand domain containing"	29163	protein-coding gene	gene with protein product	"ninein-like protein"	609580				10231032	Standard	XM_005260678		Approved	KIAA0980, NLP	uc002wux.1	Q9Y2I6	OTTHUMG00000032127	ENST00000278886.6:c.1425C>T	20.37:g.25472047G>A						NINL_ENST00000422516.1_Silent_p.D475D	p.D475D	NM_025176.4	NP_079452.3	Q9Y2I6	NINL_HUMAN			11	1498	-			475					A6NJN0|B3V9H6|B7Z1V8|Q5JYP0|Q8NE38|Q9NQE3	Silent	SNP	ENST00000278886.6	37	c.1425C>T	CCDS33452.1																																																																																				0.701	NINL-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078445.3	NM_025176		35	67	0	0	0	1	0	35	67					A	25472047	G	A	25472047	2	1	305	1	0	0	0	0	0	0	0	1	10420	1136	40	1		1	NINL	20	25472047	Silent	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	1505675	25472047	37553473	1058	15575											
DNMT3B	1789	broad.mit.edu	37	chr20	31369195	31369195	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgactctccaagagggaggTgtccagtctgctaagctaca	10	8	12	11	1	2	1	0	0	2	1	4	3	3	2	2	2	3	2	2	2	3	2			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr20:31369195T>C	ENST00000328111.2	+	3	500	c.179T>C	c.(178-180)gTg>gCg	p.V60A	DNMT3B_ENST00000456297.2_Missense_Mutation_p.V60A|DNMT3B_ENST00000375623.4_Missense_Mutation_p.V60A|DNMT3B_ENST00000443239.3_Missense_Mutation_p.V60A|DNMT3B_ENST00000201963.3_Missense_Mutation_p.V72A|DNMT3B_ENST00000353855.2_Missense_Mutation_p.V60A|DNMT3B_ENST00000344505.4_Missense_Mutation_p.V60A|DNMT3B_ENST00000348286.2_Missense_Mutation_p.V60A	NM_006892.3	NP_008823.1	Q9UBC3	DNM3B_HUMAN	DNA (cytosine-5-)-methyltransferase 3 beta	60	Interaction with DNMT1 and DNMT3A.				C-5 methylation of cytosine (GO:0090116)|cellular response to amino acid stimulus (GO:0071230)|DNA methylation (GO:0006306)|DNA methylation involved in embryo development (GO:0043045)|DNA methylation on cytosine within a CG sequence (GO:0010424)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of gene expression (GO:0010628)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of neuron differentiation (GO:0045666)|protein complex localization (GO:0031503)|regulation of gene expression by genetic imprinting (GO:0006349)|response to drug (GO:0042493)|response to ionizing radiation (GO:0010212)|S-adenosylhomocysteine metabolic process (GO:0046498)|S-adenosylmethioninamine metabolic process (GO:0046499)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear heterochromatin (GO:0005720)|nucleus (GO:0005634)	DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA (cytosine-5-)-methyltransferase activity, acting on CpG substrates (GO:0051718)|DNA-methyltransferase activity (GO:0009008)|metal ion binding (GO:0046872)|transcription corepressor activity (GO:0003714)|unmethylated CpG binding (GO:0045322)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(16)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						AAGAGGGAGGTGTCCAGTCTG	0.567																																						ENST00000328111.2																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(16)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						c.(178-180)gTg>gCg		DNA (cytosine-5-)-methyltransferase 3 beta							149	116	127					20																	31369195		2203	4300	6503	SO:0001583	missense	1789				negative regulation of histone H3-K9 methylation|positive regulation of gene expression|positive regulation of histone H3-K4 methylation		metal ion binding|protein binding|transcription corepressor activity	g.chr20:31369195T>C		CCDS13204.1, CCDS13205.1, CCDS13206.1, CCDS13207.1, CCDS56183.1, CCDS56184.1	20q11.2	2014-09-17			ENSG00000088305	ENSG00000088305			2979	protein-coding gene	gene with protein product		602900				9662389, 10433969	Standard	NM_006892		Approved		uc002wyc.3	Q9UBC3	OTTHUMG00000032226	ENST00000328111.2:c.179T>C	20.37:g.31369195T>C	ENSP00000328547:p.Val60Ala					DNMT3B_ENST00000344505.4_Missense_Mutation_p.V60A|DNMT3B_ENST00000353855.2_Missense_Mutation_p.V60A|DNMT3B_ENST00000443239.3_Missense_Mutation_p.V60A|DNMT3B_ENST00000456297.2_Missense_Mutation_p.V60A|DNMT3B_ENST00000201963.3_Missense_Mutation_p.V72A|DNMT3B_ENST00000375623.4_Missense_Mutation_p.V60A|DNMT3B_ENST00000348286.2_Missense_Mutation_p.V60A	p.V60A	NM_006892.3	NP_008823.1	Q9UBC3	DNM3B_HUMAN			3	500	+			60			Interaction with DNMT1 and DNMT3A.		A2A2E2|B4DSM8|B4DSU1|E1P5M6|E1P5M7|E7EN63|E9PBF2|Q9UBD4|Q9UJQ5|Q9UKA6|Q9UNE5|Q9Y5R9|Q9Y5S0	Missense_Mutation	SNP	ENST00000328111.2	37	c.179T>C	CCDS13205.1	.	.	.	.	.	.	.	.	.	.	T	12.69	2.013803	0.35511	.	.	ENSG00000088305	ENST00000328111;ENST00000537219;ENST00000353855;ENST00000348286;ENST00000443239;ENST00000456297;ENST00000344505;ENST00000375623;ENST00000201963	D;D;D;D;D;D;T;D	0.98249	-4.78;-4.81;-4.76;-4.76;-4.62;-4.65;-0.7;-4.82	4.16	4.16	0.48862	.	0.480164	0.20106	N	0.099126	D	0.96439	0.8838	N	0.24115	0.695	0.34754	D	0.73204	P;B;B;B;B;B	0.49447	0.924;0.077;0.005;0.423;0.005;0.007	P;B;B;B;B;B	0.62298	0.9;0.026;0.014;0.079;0.014;0.009	D	0.94312	0.7546	10	0.02654	T	1	-32.8351	9.8968	0.41322	0.0:0.0:0.0:1.0	.	60;60;72;60;60;60	E9PBF2;E7EN63;Q9UBC3-6;Q9UBC3-3;Q9UBC3-2;Q9UBC3	.;.;.;.;.;DNM3B_HUMAN	A	60;146;60;60;60;60;60;60;72	ENSP00000328547:V60A;ENSP00000313397:V60A;ENSP00000337764:V60A;ENSP00000403169:V60A;ENSP00000412305:V60A;ENSP00000345105:V60A;ENSP00000364774:V60A;ENSP00000201963:V72A	ENSP00000201963:V72A	V	+	2	0	DNMT3B	30832856	1.000000	0.71417	0.998000	0.56505	0.453000	0.32348	3.044000	0.49830	2.114000	0.64651	0.383000	0.25322	GTG		0.567	DNMT3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078643.2	NM_006892		4	58	0	0	0	1	0	4	58					C	31369195	T	C	31369195	3	2	305	1	0	0	0	0	1	0	0	0	4677	1696	59	4	225	4	DNMT3B	20	31369195	Missense_Mutation	SNP	T	TCGA-KK-A59V-01A-11D-A29Q-08	5897148	31369195	31656325	1059	15576											
BPIL3	128859	broad.mit.edu	37	chr20	31619501	31619501	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcagcctgctgactggcacGcgagctgaccctggggcact	6	7	14	14	2	0	2	0	2	0	0	0	3	0	2	2	3	4	5	2	3	0	0			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr20:31619501G>A	ENST00000349552.1	+	1	48	c.48G>A	c.(46-48)acG>acA	p.T16T		NM_174897.2	NP_777557.1	Q8NFQ5	BPIB6_HUMAN	BPI fold containing family B, member 6	16			T -> M (in dbSNP:rs17301126).			extracellular region (GO:0005576)	lipid binding (GO:0008289)										TGACTGGCACGCGAGCTGACC	0.667																																						ENST00000349552.1																			0											c.(46-48)acG>acA		BPI fold containing family B, member 6							41	32	35					20																	31619501		2203	4300	6503	SO:0001819	synonymous_variant	128859					extracellular region	lipid binding	g.chr20:31619501G>A	AF465767	CCDS13211.1	20q11.21	2011-08-04	2011-07-29	2011-07-29	ENSG00000167104	ENSG00000167104		"BPI fold containing"	16504	protein-coding gene	gene with protein product		614110	"bactericidal/permeability-increasing protein-like 3"	BPIL3		12185532, 21787333	Standard	NM_174897		Approved	LPLUNC6	uc010zuc.2	Q8NFQ5	OTTHUMG00000032238	ENST00000349552.1:c.48G>A	20.37:g.31619501G>A							p.T16T	NM_174897.2	NP_777557.1	Q8NFQ5	BPIL3_HUMAN			1	48	+			16		T -> M (in dbSNP:rs17301126).				Silent	SNP	ENST00000349552.1	37	c.48G>A	CCDS13211.1																																																																																				0.667	BPIFB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078658.2	NM_174897		17	26	0	0	0	1	0	17	26					A	31619501	G	A	31619501	2	1	305	1	0	0	0	0	0	0	0	1	1493	1074	38	1		1	BPIL3	20	31619501	Silent	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	250306	31619501	31406019	1060	15577											
GGT7	2686	broad.mit.edu	37	chr20	33451235	33451235	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcaggagcactcggccgctgCggcggagaacgggtctttgc	6	6	17	12	5	1	1	0	0	1	1	2	3	1	2	1	5	4	3	1	5	1	1			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr20:33451235C>T	ENST00000336431.5	-	2	330	c.286G>A	c.(286-288)Gca>Aca	p.A96T		NM_178026.2	NP_821158.2	Q9UJ14	GGT7_HUMAN	gamma-glutamyltransferase 7	96					glutathione biosynthetic process (GO:0006750)|glutathione metabolic process (GO:0006749)|leukotriene biosynthetic process (GO:0019370)	anchored component of external side of plasma membrane (GO:0031362)|integral component of membrane (GO:0016021)	gamma-glutamyltransferase activity (GO:0003840)|glutathione hydrolase activity (GO:0036374)			NS(2)|breast(1)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2)	20						TCGGCCGCTGCGGCGGAGAAC	0.672																																						ENST00000336431.5																			0				NS(2)|breast(1)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2)	20						c.(286-288)Gca>Aca		gamma-glutamyltransferase 7							34	29	31					20																	33451235		2201	4299	6500	SO:0001583	missense	2686				glutathione biosynthetic process	integral to membrane	acyltransferase activity|gamma-glutamyltransferase activity	g.chr20:33451235C>T	AL049709	CCDS13242.2	20q11.22	2008-11-24	2008-03-10	2008-03-10	ENSG00000131067	ENSG00000131067		"Gamma-glutamyltransferases"	4259	protein-coding gene	gene with protein product		612342	"gamma-glutamyltransferase-like 3"	GGTL5, GGTL3		8104871, 18357469	Standard	NM_178026		Approved	D20S101, dJ18C9.2	uc002xay.3	Q9UJ14	OTTHUMG00000032314	ENST00000336431.5:c.286G>A	20.37:g.33451235C>T	ENSP00000338964:p.Ala96Thr						p.A96T	NM_178026.2	NP_821158.2	Q9UJ14	GGT7_HUMAN			2	330	-			96					Q8N899|Q8NF66|Q9BYP5|Q9BYP6	Missense_Mutation	SNP	ENST00000336431.5	37	c.286G>A	CCDS13242.2	.	.	.	.	.	.	.	.	.	.	C	17.78	3.473499	0.63737	.	.	ENSG00000131067	ENST00000336431;ENST00000427420	T;T	0.32988	3.51;1.43	5.26	5.26	0.73747	.	0.089222	0.45867	D	0.000326	T	0.34832	0.0911	N	0.08118	0	0.32127	N	0.587222	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.74023	0.982;0.959;0.959	T	0.47923	-0.9079	10	0.62326	D	0.03	-19.01	14.4061	0.67083	0.0:1.0:0.0:0.0	.	96;96;96	Q9UJ14-5;A4FU32;Q9UJ14	.;.;GGT7_HUMAN	T	96;113	ENSP00000338964:A96T;ENSP00000394993:A113T	ENSP00000338964:A96T	A	-	1	0	GGT7	32914896	1.000000	0.71417	0.332000	0.25469	0.058000	0.15608	6.077000	0.71275	2.472000	0.83506	0.650000	0.86243	GCA		0.672	GGT7-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000078816.2	NM_178026		13	26	0	0	0	1	0	13	26					T	33451235	C	T	33451235	3	4	305	1	0	0	0	0	1	0	0	0	6364	768	27	1	1758	1	GGT7	20	33451235	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	1831734	33451235	29574285	1061	15578											
MYH7B	57644	broad.mit.edu	37	chr20	33577720	33577720	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggtggtccactacgcaggcGtggtaggtgcttgctggaac	7	9	16	9	2	0	0	0	0	0	0	1	1	1	1	1	6	4	4	1	6	3	3	rs571377722		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr20:33577720G>A	ENST00000262873.7	+	18	1983	c.1891G>A	c.(1891-1893)Gtg>Atg	p.V631M	MIR499A_ENST00000384903.1_RNA	NM_020884.3	NP_065935.2	A7E2Y1	MYH7B_HUMAN	myosin, heavy chain 7B, cardiac muscle, beta	589	Myosin motor.					membrane (GO:0016020)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	54			BRCA - Breast invasive adenocarcinoma(18;0.00691)			CTACGCAGGCGTGGTAGGTGC	0.647																																						ENST00000262873.7																			0				NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	54						c.(1891-1893)Gtg>Atg		myosin, heavy chain 7B, cardiac muscle, beta							40	44	43					20																	33577720		2098	4232	6330	SO:0001583	missense	57644					membrane|myosin filament	actin binding|ATP binding|motor activity	g.chr20:33577720G>A	AB040945	CCDS42869.1	20q11	2011-09-27	2006-09-29		ENSG00000078814	ENSG00000078814		"Myosins / Myosin superfamily : Class II"	15906	protein-coding gene	gene with protein product		609928	"myosin, heavy polypeptide 7B, cardiac muscle, beta"			11919279, 15014174	Standard	XM_006723839		Approved	KIAA1512, dJ756N5.1, MYH14, MHC14	uc002xbi.2	A7E2Y1	OTTHUMG00000032320	ENST00000262873.7:c.1891G>A	20.37:g.33577720G>A	ENSP00000262873:p.Val631Met						p.V631M	NM_020884.3	NP_065935.2	A7E2Y1	MYH7B_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.00691)		18	1983	+			589			Myosin head-like.		Q5JVW7|Q6NT44|Q6NT57|Q6WG75|Q96I57|Q9NWE2|Q9P216	Missense_Mutation	SNP	ENST00000262873.7	37	c.1891G>A	CCDS42869.1	.	.	.	.	.	.	.	.	.	.	G	16.50	3.140622	0.56936	.	.	ENSG00000078814	ENST00000262873	D	0.87256	-2.23	4.17	4.17	0.49024	Myosin head, motor domain (2);	0.000000	0.34338	N	0.004043	D	0.92331	0.7567	M	0.72118	2.19	0.41505	D	0.988305	D	0.76494	0.999	D	0.67103	0.949	D	0.93354	0.6721	10	0.62326	D	0.03	.	17.0319	0.86463	0.0:0.0:1.0:0.0	.	589	A7E2Y1	MYH7B_HUMAN	M	631	ENSP00000262873:V631M	ENSP00000262873:V631M	V	+	1	0	MYH7B	33041381	1.000000	0.71417	0.999000	0.59377	0.874000	0.50279	4.573000	0.60893	2.319000	0.78375	0.561000	0.74099	GTG		0.647	MYH7B-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000078833.2	NM_020884		14	33	0	0	0	1	0	14	33					A	33577720	G	A	33577720	3	1	305	1	0	0	0	0	1	0	0	0	10040	1145	40	1	1961	1	MYH7B	20	33577720	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	126485	33577720	29447800	1062	15579											
NFS1	9054	broad.mit.edu	37	chr20	34262435	34262435	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agaaagagcaagtccataccGggataatggtgcttagggtc	13	8	13	7	1	0	2	0	0	0	2	2	3	1	3	2	3	3	2	2	3	5	3			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr20:34262435G>A	ENST00000374092.4	-	9	1123	c.1053C>T	c.(1051-1053)ccC>ccT	p.P351P	NFS1_ENST00000540053.1_Splice_Site_p.P149P|NFS1_ENST00000541387.1_Splice_Site_p.P300P|RP1-309K20.6_ENST00000541176.2_Splice_Site_p.P11L|NFS1_ENST00000397425.1_Splice_Site_p.P291P|NFS1_ENST00000374085.1_Splice_Site_p.P291P|NFS1_ENST00000498084.1_5'Flank	NM_021100.4	NP_066923.3	Q9Y697	NFS1_HUMAN	NFS1 cysteine desulfurase	351					cysteine metabolic process (GO:0006534)|iron incorporation into metallo-sulfur cluster (GO:0018283)|Mo-molybdopterin cofactor biosynthetic process (GO:0006777)|molybdopterin cofactor biosynthetic process (GO:0032324)|protein complex assembly (GO:0006461)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	cysteine desulfurase activity (GO:0031071)|protein homodimerization activity (GO:0042803)|pyridoxal phosphate binding (GO:0030170)			central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	18	Lung NSC(9;0.00608)|all_lung(11;0.00918)		BRCA - Breast invasive adenocarcinoma(18;0.0886)		L-Alanine(DB00160)|L-Cysteine(DB00151)	AGTCCATACCGGGATAATGGT	0.468																																						ENST00000374092.4																			0				central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	18						c.e9+1		NFS1 cysteine desulfurase	L-Alanine(DB00160)|L-Cysteine(DB00151)|Pyridoxal Phosphate(DB00114)						117	113	114					20																	34262435		2203	4300	6503	SO:0001630	splice_region_variant	9054				cysteine metabolic process|iron incorporation into metallo-sulfur cluster|Mo-molybdopterin cofactor biosynthetic process|protein complex assembly|water-soluble vitamin metabolic process	cytosol|mitochondrial matrix|nucleus	cysteine desulfurase activity|protein homodimerization activity|pyridoxal phosphate binding	g.chr20:34262435G>A	AF097025	CCDS13262.1, CCDS56185.1	20q11.22	2013-08-06	2013-08-06		ENSG00000244005	ENSG00000244005	2.8.1.7		15910	protein-coding gene	gene with protein product		603485	"nitrogen fixation 1 (S. cerevisiae, homolog)", "NFS1 nitrogen fixation 1 homolog (S. cerevisiae)"			9885568, 16847322	Standard	NM_021100		Approved	NifS, IscS	uc002xdw.2	Q9Y697	OTTHUMG00000032361	ENST00000374092.4:c.1054+1C>T	20.37:g.34262435G>A						NFS1_ENST00000374085.1_Splice_Site_p.P291_splice|NFS1_ENST00000397425.1_Splice_Site_p.P291_splice|NFS1_ENST00000541387.1_Splice_Site_p.P300_splice|NFS1_ENST00000540053.1_Splice_Site_p.P149_splice	p.P351_splice	NM_021100.4	NP_066923.3	Q9Y697	NFS1_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.0886)		9	1123	-	Lung NSC(9;0.00608)|all_lung(11;0.00918)		351					B3KMA5|B4DXK9|E1P5R8|F5GYK5|Q6P0L8|Q9NTZ5|Q9Y481	Splice_Site	SNP	ENST00000374092.4	37	c.1054_splice	CCDS13262.1																																																																																				0.468	NFS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078936.4	NM_021100	Silent	22	73	0	0	0	1	0	22	73					A	34262435	G	A	34262435	5	1	305	1	0	0	0	0	0	0	1	0	10385	1130	39	2	340	2	NFS1	20	34262435	Splice_Site	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	684715	34262435	28763085	1063	15580											
MYL9	10398	broad.mit.edu	37	chr20	35176565	35176565	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cccgaggatgtgattcgcaaCgcctttgcctgcttcgacga	7	10	11	13	5	0	1	0	1	0	0	2	5	0	2	3	1	3	2	3	1	1	3	rs7273824		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr20:35176565C>T	ENST00000279022.2	+	3	419	c.315C>T	c.(313-315)aaC>aaT	p.N105N	RP5-977B1.11_ENST00000561134.1_RNA|RP5-977B1.7_ENST00000439595.1_RNA|RP5-977B1.7_ENST00000425233.1_RNA|MYL9_ENST00000346786.2_Intron	NM_006097.4	NP_006088.2	P24844	MYL9_HUMAN	myosin, light chain 9, regulatory	105	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.				axon guidance (GO:0007411)|muscle contraction (GO:0006936)|platelet aggregation (GO:0070527)|regulation of muscle contraction (GO:0006937)	cytosol (GO:0005829)|muscle myosin complex (GO:0005859)|stress fiber (GO:0001725)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|structural constituent of muscle (GO:0008307)			endometrium(2)|kidney(1)|large_intestine(3)|lung(2)	8	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)				TGATTCGCAACGCCTTTGCCT	0.617													C|||	1	0.000199681	8e-04	0	5008	,	,		18605	0		0	False		,,,				2504	0					ENST00000279022.2																			0				endometrium(2)|kidney(1)|large_intestine(3)|lung(2)	8						c.(313-315)aaC>aaT		myosin, light chain 9, regulatory		C	,	7,4399	12.9+/-30.5	0,7,2196	109	76	87		315,	-4.5	0.9	20	dbSNP_116	87	0,8600		0,0,4300	no	coding-synonymous,intron	MYL9	NM_006097.3,NM_181526.1	,	0,7,6496	TT,TC,CC		0.0,0.1589,0.0538	,	105/173,	35176565	7,12999	2203	4300	6503	SO:0001819	synonymous_variant	10398				axon guidance|muscle contraction|regulation of muscle contraction	cytosol|muscle myosin complex	calcium ion binding|structural constituent of muscle	g.chr20:35176565C>T	J02854	CCDS13276.1, CCDS13277.1	20q11.23	2013-01-10	2006-09-29		ENSG00000101335	ENSG00000101335		"Myosins / Light chain", "EF-hand domain containing"	15754	protein-coding gene	gene with protein product	"myosin regulatory light chain 2, smooth muscle isoform", "myosin regulatory light chain 1"	609905	"myosin, light polypeptide 9, regulatory"			2526655	Standard	NM_006097		Approved	MYRL2, MLC2, LC20, MRLC1	uc002xfl.2	P24844	OTTHUMG00000032387	ENST00000279022.2:c.315C>T	20.37:g.35176565C>T						MYL9_ENST00000346786.2_Intron|RP5-977B1.7_ENST00000439595.1_RNA|RP5-977B1.7_ENST00000425233.1_RNA	p.N105N	NM_006097.4	NP_006088.2	P24844	MYL9_HUMAN			3	419	+	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)	105			EF-hand 2.		E1P5T6|Q9BQL9|Q9BUF9|Q9H136	Silent	SNP	ENST00000279022.2	37	c.315C>T	CCDS13276.1																																																																																				0.617	MYL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079015.2	NM_006097		11	35	0	0	0	1	0	11	35					T	35176565	C	T	35176565	2	4	305	1	0	0	0	0	0	0	0	1	10054	535	19	1		1	MYL9	20	35176565	Silent	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	914130	35176565	27848955	1064	15581											
KIAA1755	85449	broad.mit.edu	37	chr20	36841555	36841555	+	Frame_Shift_Del	DEL	G	G	-																															cgagggacctggctctgcctGgggggctgctgccggaagaa																										TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr20:36841555delG	ENST00000279024.4	-	14	3763	c.3492delC	c.(3490-3492)cccfs	p.P1164fs		NM_001029864.1	NP_001025035.1	Q5JYT7	K1755_HUMAN	KIAA1755	1164										breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(5)|pancreas(2)|skin(4)|stomach(1)	54		Myeloproliferative disorder(115;0.00874)				GGCTCTGCCTGGGGGGCTGCT	0.642																																						ENST00000279024.4																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(5)|pancreas(2)|skin(4)|stomach(1)	54						c.(3490-3492)ccfs		KIAA1755							38	41	40					20																	36841555		2203	4300	6503	SO:0001589	frameshift_variant	85449							g.chr20:36841555delG	AB051542	CCDS33467.1	20q11.23	2007-12-07			ENSG00000149633	ENSG00000149633			29372	protein-coding gene	gene with protein product						11214970	Standard	NM_001029864		Approved	RP5-1054A22.3	uc002xhy.1	Q5JYT7	OTTHUMG00000032436	ENST00000279024.4:c.3492delC	20.37:g.36841555delG	ENSP00000279024:p.Pro1164fs						p.P1164fs	NM_001029864.1	NP_001025035.1	Q5JYT7	K1755_HUMAN			14	3763	-		Myeloproliferative disorder(115;0.00874)	1164					Q9C0A8	Frame_Shift_Del	DEL	ENST00000279024.4	37	c.3492delC	CCDS33467.1																																																																																				0.642	KIAA1755-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079144.3	NM_001029864		24	70						24	70	---	---	---	---	-	36841555	G	-	36841555	7	5	305	1	0	1	0	1	0	0	0	0	8257	1335	47	0	114	0	KIAA1755	20	36841555	Frame_Shift_Del	DEL	G	TCGA-KK-A59V-01A-11D-A29Q-08	1664990	36841555	26183965	1065	15582											
PLCG1	5335	broad.mit.edu	37	chr20	39796522	39796522	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acggggccctgtatgagggaCgcaaccctggcttctatgta	8	9	13	11	2	1	1	0	1	1	0	1	2	1	2	2	4	1	4	2	4	4	4			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr20:39796522C>T	ENST00000373271.1	+	20	2737	c.2332C>T	c.(2332-2334)Cgc>Tgc	p.R778C	PLCG1_ENST00000373272.2_Missense_Mutation_p.R778C|PLCG1_ENST00000244007.3_Missense_Mutation_p.R778C	NM_182811.1	NP_877963.1	P19174	PLCG1_HUMAN	phospholipase C, gamma 1	778					activation of MAPKK activity (GO:0000186)|activation of phospholipase C activity (GO:0007202)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium-mediated signaling (GO:0019722)|cell migration (GO:0016477)|cellular response to epidermal growth factor stimulus (GO:0071364)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inositol phosphate metabolic process (GO:0043647)|leukocyte migration (GO:0050900)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phospholipid catabolic process (GO:0009395)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	cell projection (GO:0042995)|cell-cell junction (GO:0005911)|COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	calcium ion binding (GO:0005509)|neurotrophin TRKA receptor binding (GO:0005168)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|protein kinase binding (GO:0019901)|receptor signaling protein activity (GO:0005057)			breast(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(16)|skin(6)|urinary_tract(2)	46		Myeloproliferative disorder(115;0.00878)				GTATGAGGGACGCAACCCTGG	0.552																																						ENST00000373272.2																			0				breast(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(16)|skin(6)|urinary_tract(2)	46						c.(2332-2334)Cgc>Tgc		phospholipase C, gamma 1							77	69	72					20																	39796522		2203	4300	6503	SO:0001583	missense	5335				activation of phospholipase C activity|axon guidance|blood coagulation|cellular response to epidermal growth factor stimulus|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|interspecies interaction between organisms|intracellular signal transduction|leukocyte migration|nerve growth factor receptor signaling pathway|phospholipid catabolic process|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of epithelial cell migration|T cell receptor signaling pathway	cytosol|lamellipodium|plasma membrane|ruffle	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|receptor signaling protein activity	g.chr20:39796522C>T	M34667	CCDS13313.1, CCDS13314.1	20q12-q13.1	2013-02-14	2004-01-29		ENSG00000124181	ENSG00000124181	3.1.4.11	"Pleckstrin homology (PH) domain containing", "EF-hand domain containing", "SH2 domain containing"	9065	protein-coding gene	gene with protein product		172420	"phospholipase C, gamma 1 (formerly subtype 148)"	PLC1		2167438, 3254788	Standard	NM_182811		Approved	PLC148, PLC-II, PLCgamma1, NCKAP3	uc002xjo.1	P19174	OTTHUMG00000033082	ENST00000373271.1:c.2332C>T	20.37:g.39796522C>T	ENSP00000362368:p.Arg778Cys					PLCG1_ENST00000244007.3_Missense_Mutation_p.R778C|PLCG1_ENST00000373271.1_Missense_Mutation_p.R778C	p.R778C	NM_002660.2	NP_002651.2	P19174	PLCG1_HUMAN			20	2737	+		Myeloproliferative disorder(115;0.00878)	778					B7ZLY7|B9EGH4|E1P5W4|Q2V575	Missense_Mutation	SNP	ENST00000373271.1	37	c.2332C>T	CCDS13314.1	.	.	.	.	.	.	.	.	.	.	C	19.73	3.882429	0.72294	.	.	ENSG00000124181	ENST00000244007;ENST00000373271;ENST00000373272	T;T;T	0.68331	-0.32;-0.32;-0.32	5.03	5.03	0.67393	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (1);Src homology-3 domain (1);	0.000000	0.85682	D	0.000000	T	0.71978	0.3404	L	0.53249	1.67	0.80722	D	1	D;D;D	0.61080	0.989;0.981;0.981	P;P;P	0.54924	0.764;0.586;0.586	T	0.74124	-0.3766	10	0.59425	D	0.04	.	13.4995	0.61445	0.1561:0.8439:0.0:0.0	.	778;778;778	P19174-2;P19174;A2A284	.;PLCG1_HUMAN;.	C	778	ENSP00000244007:R778C;ENSP00000362368:R778C;ENSP00000362369:R778C	ENSP00000244007:R778C	R	+	1	0	PLCG1	39229936	0.998000	0.40836	1.000000	0.80357	0.997000	0.91878	3.123000	0.50453	2.614000	0.88457	0.655000	0.94253	CGC		0.552	PLCG1-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000080514.3	NM_182811		7	25	0	0	0	1	0	7	25					T	39796522	C	T	39796522	3	4	305	1	0	0	0	0	1	0	0	0	12035	536	19	1	2410	1	PLCG1	20	39796522	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	2954967	39796522	23228998	1066	15583											
JPH2	57158	broad.mit.edu	37	chr20	42788369	42788369	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgctcttgagctgcagcatgCggcgcttggtgtccttgacc	4	12	13	12	2	1	2	0	2	1	0	2	2	2	2	2	2	5	5	2	2	0	3	rs200674068		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr20:42788369C>T	ENST00000372980.3	-	2	1930	c.1058G>A	c.(1057-1059)cGc>cAc	p.R353H		NM_020433.4	NP_065166.2	Q9BR39	JPH2_HUMAN	junctophilin 2	353					calcium ion homeostasis (GO:0055074)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport into cytosol (GO:0060402)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|regulation of cardiac muscle tissue development (GO:0055024)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|Z disc (GO:0030018)	calcium-release channel activity (GO:0015278)|phosphatidic acid binding (GO:0070300)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylinositol-4-phosphate binding (GO:0070273)|phosphatidylinositol-5-phosphate binding (GO:0010314)|phosphatidylserine binding (GO:0001786)			NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(19)|prostate(1)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			CTGCAGCATGCGGCGCTTGGT	0.657													c|||	1	0.000199681	0	0	5008	,	,		12763	0.001		0	False		,,,				2504	0					ENST00000372980.3																			0				NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(19)|prostate(1)|upper_aerodigestive_tract(1)	32						c.(1057-1059)cGc>cAc		junctophilin 2							55	45	49					20																	42788369		2203	4300	6503	SO:0001583	missense	57158				calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane|plasma membrane		g.chr20:42788369C>T	AL034419	CCDS13325.1, CCDS13326.1	20q12-q13.11	2014-09-17			ENSG00000149596	ENSG00000149596			14202	protein-coding gene	gene with protein product		605267				10891348, 10949023	Standard	XM_006723832		Approved	JP-2	uc002xli.1	Q9BR39	OTTHUMG00000033037	ENST00000372980.3:c.1058G>A	20.37:g.42788369C>T	ENSP00000362071:p.Arg353His						p.R353H	NM_020433.4	NP_065166.2	Q9BR39	JPH2_HUMAN	COAD - Colon adenocarcinoma(18;0.00189)		2	1930	-		Myeloproliferative disorder(115;0.0122)	353					E1P5X1|O95913|Q5JY74|Q9UJN4	Missense_Mutation	SNP	ENST00000372980.3	37	c.1058G>A	CCDS13325.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	c	14.20	2.465766	0.43839	.	.	ENSG00000149596	ENST00000372980	T	0.60920	0.15	3.12	3.12	0.35913	.	0.118458	0.53938	U	0.000049	T	0.48978	0.1530	L	0.49350	1.555	0.80722	D	1	B	0.20671	0.047	B	0.12837	0.008	T	0.53085	-0.8488	10	0.56958	D	0.05	.	10.3856	0.44138	0.0:0.8966:0.0:0.1034	.	353	Q9BR39	JPH2_HUMAN	H	353	ENSP00000362071:R353H	ENSP00000362071:R353H	R	-	2	0	JPH2	42221783	1.000000	0.71417	1.000000	0.80357	0.910000	0.53928	5.446000	0.66600	1.550000	0.49438	0.306000	0.20318	CGC		0.657	JPH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080307.1			4	39	0	0	0	1	0	4	39					T	42788369	C	T	42788369	3	4	305	1	0	0	0	0	1	0	0	0	7961	768	27	1	1048	1	JPH2	20	42788369	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	2991847	42788369	20237151	1067	15584											
STK4	6789	broad.mit.edu	37	chr20	43623811	43623811	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	attcaggaaattggatacaaCtgtgtagcagacatctggtc	13	11	10	7	0	2	1	1	0	1	1	3	3	2	3	0	3	3	2	0	3	4	4			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr20:43623811C>A	ENST00000372806.3	+	6	701	c.606C>A	c.(604-606)aaC>aaA	p.N202K	STK4_ENST00000396731.4_Missense_Mutation_p.N202K|STK4_ENST00000499879.2_Missense_Mutation_p.N147K|STK4_ENST00000372801.1_Missense_Mutation_p.N202K	NM_006282.2	NP_006273.1	Q13043	STK4_HUMAN	serine/threonine kinase 4	202	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|cell differentiation involved in embryonic placenta development (GO:0060706)|cell morphogenesis (GO:0000902)|central nervous system development (GO:0007417)|endocardium development (GO:0003157)|hepatocyte apoptotic process (GO:0097284)|hippo signaling (GO:0035329)|intracellular signal transduction (GO:0035556)|keratinocyte differentiation (GO:0030216)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of organ growth (GO:0046621)|neural tube formation (GO:0001841)|patterning of blood vessels (GO:0001569)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic process (GO:0043065)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|primitive hemopoiesis (GO:0060215)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|magnesium ion binding (GO:0000287)|protein dimerization activity (GO:0046983)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activator activity (GO:0043539)|protein serine/threonine kinase activity (GO:0004674)|transcription factor binding (GO:0008134)			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(2)|lung(5)|ovary(1)|prostate(1)|skin(2)	20		Myeloproliferative disorder(115;0.0122)				TTGGATACAACTGTGTAGCAG	0.448																																					GBM(187;1039 2137 11798 21916 33213)	ENST00000372806.3																			0				NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(2)|lung(5)|ovary(1)|prostate(1)|skin(2)	20						c.(604-606)aaC>aaA		serine/threonine kinase 4							139	133	135					20																	43623811		2203	4300	6503	SO:0001583	missense	6789				apoptosis|cell morphogenesis|hippo signaling cascade|intracellular protein kinase cascade|negative regulation of canonical Wnt receptor signaling pathway|peptidyl-serine phosphorylation|positive regulation of apoptosis|protein autophosphorylation	cytoplasm|nucleus	ATP binding|magnesium ion binding|protein homodimerization activity|protein serine/threonine kinase activator activity|protein serine/threonine kinase activity|transcription factor binding	g.chr20:43623811C>A		CCDS13341.1	20q11.2-q13.2	2014-09-17			ENSG00000101109	ENSG00000101109			11408	protein-coding gene	gene with protein product	"mammalian sterile 20-like 1", "yeast Ste20-like", "kinase responsive to stress 2"	604965				8816758, 9545236, 11517310	Standard	NM_006282		Approved	MST1, KRS2, YSK3	uc002xnb.3	Q13043	OTTHUMG00000033059	ENST00000372806.3:c.606C>A	20.37:g.43623811C>A	ENSP00000361892:p.Asn202Lys					STK4_ENST00000372801.1_Missense_Mutation_p.N202K|STK4_ENST00000499879.2_Missense_Mutation_p.N147K|STK4_ENST00000396731.4_Missense_Mutation_p.N202K	p.N202K	NM_006282.2	NP_006273.1	Q13043	STK4_HUMAN			6	701	+		Myeloproliferative disorder(115;0.0122)	202			Protein kinase.		B2RCR8|Q15802|Q4G156|Q5H982|Q6PD60|Q9BR32|Q9NTZ4	Missense_Mutation	SNP	ENST00000372806.3	37	c.606C>A	CCDS13341.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.090184	0.76756	.	.	ENSG00000101109	ENST00000372806;ENST00000396731;ENST00000372801;ENST00000499879	T;T;T;T	0.14516	2.5;2.5;2.5;2.5	5.9	4.95	0.65309	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.18299	0.0439	L	0.28344	0.845	0.52099	D	0.999945	P;D;D;D	0.64830	0.936;0.994;0.986;0.983	P;P;P;P	0.59595	0.511;0.86;0.728;0.786	T	0.00330	-1.1812	10	0.87932	D	0	.	8.0261	0.30438	0.0:0.7609:0.0:0.2391	.	147;202;202;202	F5H5B4;Q13043-2;A0PJ51;Q13043	.;.;.;STK4_HUMAN	K	202;202;202;147	ENSP00000361892:N202K;ENSP00000379957:N202K;ENSP00000361887:N202K;ENSP00000443514:N147K	ENSP00000361887:N202K	N	+	3	2	STK4	43057225	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.518000	0.35877	2.806000	0.96561	0.655000	0.94253	AAC		0.448	STK4-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080401.4	NM_006282		38	81	1	0	2.09667e-21	1	2.20252e-21	38	81					A	43623811	C	A	43623811	3	1	305	1	0	0	0	0	1	0	0	0	15305	564	20	5	628	5	STK4	20	43623811	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	835442	43623811	19401709	1068	15585											
EYA2	2139	broad.mit.edu	37	chr20	45633591	45633591	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttccacacagatcttgcccaCgtgtcctcccccgccagcct	6	9	6	20	2	1	1	0	0	1	1	4	1	4	1	7	0	2	0	7	0	0	2			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr20:45633591C>T	ENST00000327619.5	+	4	540	c.166C>T	c.(166-168)Cgt>Tgt	p.R56C	EYA2_ENST00000357410.3_Missense_Mutation_p.R56C|EYA2_ENST00000317304.6_Missense_Mutation_p.R56C	NM_005244.4	NP_005235.3	O00167	EYA2_HUMAN	EYA transcriptional coactivator and phosphatase 2	56					DNA repair (GO:0006281)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|histone dephosphorylation (GO:0016576)|mesodermal cell fate specification (GO:0007501)|mitochondrial outer membrane permeabilization (GO:0097345)|peptidyl-tyrosine dephosphorylation (GO:0035335)|regulation of transcription, DNA-templated (GO:0006355)|striated muscle tissue development (GO:0014706)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	magnesium ion binding (GO:0000287)|protein tyrosine phosphatase activity (GO:0004725)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0241)				ATCTTGCCCACGTGTCCTCCC	0.562																																					Pancreas(120;56 1725 18501 25218 43520)	ENST00000327619.5																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32						c.(166-168)Cgt>Tgt		eyes absent homolog 2 (Drosophila)							83	87	86					20																	45633591		2203	4300	6503	SO:0001583	missense	2139				DNA repair|histone dephosphorylation|mesodermal cell fate specification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	magnesium ion binding|protein binding|protein tyrosine phosphatase activity	g.chr20:45633591C>T		CCDS13403.1, CCDS54471.1	20q13.1	2014-06-19	2014-06-19		ENSG00000064655	ENSG00000064655		"Protein tyrosine phosphatases / Asp-based PTPs"	3520	protein-coding gene	gene with protein product		601654	"eyes absent (Drosophila) homolog 2", "eyes absent homolog 2 (Drosophila)"			9020840	Standard	NM_005244		Approved	EAB1	uc002xsm.3	O00167	OTTHUMG00000033041	ENST00000327619.5:c.166C>T	20.37:g.45633591C>T	ENSP00000333640:p.Arg56Cys					EYA2_ENST00000357410.3_Missense_Mutation_p.R56C|EYA2_ENST00000317304.6_Missense_Mutation_p.R56C	p.R56C	NM_005244.4	NP_005235.3	O00167	EYA2_HUMAN			4	540	+		Myeloproliferative disorder(115;0.0241)	56					Q5JSW8|Q86U84|Q96CV6|Q96H97|Q99503|Q99812|Q9BWF6|Q9H4S3|Q9H4S9|Q9NPZ4|Q9UIX7	Missense_Mutation	SNP	ENST00000327619.5	37	c.166C>T	CCDS13403.1	.	.	.	.	.	.	.	.	.	.	C	18.51	3.640302	0.67244	.	.	ENSG00000064655	ENST00000327619;ENST00000357410;ENST00000484200;ENST00000317304;ENST00000458636	D;D;D;T	0.91894	-2.93;-2.51;-2.82;-0.7	5.53	5.53	0.82687	.	0.195759	0.34268	N	0.004101	D	0.92306	0.7559	L	0.36672	1.1	0.49687	D	0.999817	B;D;B;D	0.71674	0.025;0.998;0.008;0.998	B;P;B;P	0.53861	0.004;0.736;0.003;0.736	D	0.93194	0.6586	10	0.87932	D	0	-24.8254	18.2443	0.89979	0.0:1.0:0.0:0.0	.	56;56;56;56	O00167-3;E7ETN2;A8KAG7;O00167	.;.;.;EYA2_HUMAN	C	56;56;56;56;9	ENSP00000333640:R56C;ENSP00000349986:R56C;ENSP00000321590:R56C;ENSP00000395427:R9C	ENSP00000321590:R56C	R	+	1	0	EYA2	45066998	0.998000	0.40836	0.997000	0.53966	0.755000	0.42902	4.037000	0.57311	2.608000	0.88229	0.561000	0.74099	CGT		0.562	EYA2-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080326.2	NM_005244		18	86	0	0	0	1	0	18	86					T	45633591	C	T	45633591	3	4	305	1	0	0	0	0	1	0	0	0	5329	536	19	1	176	1	EYA2	20	45633591	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	2009780	45633591	17391929	1069	15586											
PTPN1	5770	broad.mit.edu	37	chr20	49195732	49195732	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agaggaaagacccttcttccGttgatatcaagaaagtgctg	13	10	10	8	1	2	4	1	1	1	3	3	5	3	5	2	1	1	2	2	1	4	4	rs371730106		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr20:49195732G>A	ENST00000371621.3	+	7	904	c.730G>A	c.(730-732)Gtt>Att	p.V244I	PTPN1_ENST00000541713.1_Missense_Mutation_p.V171I|RP4-530I15.9_ENST00000431019.1_RNA	NM_001278618.1|NM_002827.2	NP_001265547.1|NP_002818.1	P18031	PTN1_HUMAN	protein tyrosine phosphatase, non-receptor type 1	244	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				actin cytoskeleton reorganization (GO:0031532)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|endoplasmic reticulum unfolded protein response (GO:0030968)|insulin receptor signaling pathway (GO:0008286)|interferon-gamma-mediated signaling pathway (GO:0060333)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030948)|peptidyl-tyrosine dephosphorylation (GO:0035335)|peptidyl-tyrosine dephosphorylation involved in inactivation of protein kinase activity (GO:1990264)|platelet activation (GO:0030168)|platelet-derived growth factor receptor-beta signaling pathway (GO:0035791)|regulation of endocytosis (GO:0030100)|regulation of hepatocyte growth factor receptor signaling pathway (GO:1902202)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of signal transduction (GO:0009966)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|type I interferon signaling pathway (GO:0060337)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|sorting endosome (GO:0097443)	enzyme binding (GO:0019899)|ephrin receptor binding (GO:0046875)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|receptor tyrosine kinase binding (GO:0030971)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|skin(2)	16		Lung NSC(126;0.163)			Tiludronate(DB01133)	CCCTTCTTCCGTTGATATCAA	0.488																																						ENST00000371621.3																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|skin(2)	16						c.(730-732)Gtt>Att		protein tyrosine phosphatase, non-receptor type 1	Clodronate(DB00720)|Tiludronate(DB01133)	G	ILE/VAL	0,4406		0,0,2203	142	143	143		730	4.7	0.8	20		143	1,8599	1.2+/-3.3	0,1,4299	no	missense	PTPN1	NM_002827.2	29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	244/436	49195732	1,13005	2203	4300	6503	SO:0001583	missense	5770				blood coagulation|interferon-gamma-mediated signaling pathway|negative regulation of insulin receptor signaling pathway|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway	cytosol|endoplasmic reticulum membrane	protein tyrosine phosphatase activity|zinc ion binding	g.chr20:49195732G>A		CCDS13430.1, CCDS63309.1	20q13.1-q13.2	2011-06-09			ENSG00000196396	ENSG00000196396		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"	9642	protein-coding gene	gene with protein product		176885		PTP1B		2164224	Standard	NM_002827		Approved		uc002xvl.3	P18031	OTTHUMG00000032729	ENST00000371621.3:c.730G>A	20.37:g.49195732G>A	ENSP00000360683:p.Val244Ile					PTPN1_ENST00000541713.1_Missense_Mutation_p.V171I	p.V244I	NM_001278618.1|NM_002827.2	NP_001265547.1|NP_002818.1	P18031	PTN1_HUMAN			7	904	+		Lung NSC(126;0.163)	244			Tyrosine-protein phosphatase.		Q5TGD8|Q9BQV9|Q9NQQ4	Missense_Mutation	SNP	ENST00000371621.3	37	c.730G>A	CCDS13430.1	.	.	.	.	.	.	.	.	.	.	G	18.29	3.591370	0.66219	0.0	1.16E-4	ENSG00000196396	ENST00000371621;ENST00000541713	D;D	0.84146	-1.81;-1.81	5.64	4.69	0.59074	Protein-tyrosine phosphatase, receptor/non-receptor type (4);Protein-tyrosine/Dual-specificity phosphatase (1);	0.000000	0.56097	D	0.000021	T	0.80618	0.4657	L	0.28115	0.83	0.58432	D	0.999999	P	0.37824	0.609	B	0.43783	0.431	T	0.78130	-0.2324	10	0.30078	T	0.28	.	14.3093	0.66405	0.0712:0.0:0.9288:0.0	.	244	P18031	PTN1_HUMAN	I	244;171	ENSP00000360683:V244I;ENSP00000437732:V171I	ENSP00000360683:V244I	V	+	1	0	PTPN1	48629139	1.000000	0.71417	0.835000	0.33067	0.987000	0.75469	5.621000	0.67743	1.378000	0.46305	0.563000	0.77884	GTT		0.488	PTPN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079694.2			52	189	0	0	0	1	0	52	189					A	49195732	G	A	49195732	3	1	305	1	0	0	0	0	1	0	0	0	12779	1145	40	1	756	1	PTPN1	20	49195732	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	3562141	49195732	13829788	1070	15587											
NFATC2	4773	broad.mit.edu	37	chr20	50048649	50048649	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttctgctcctgtttaatggTcacccccgcaggtaatactt	7	14	8	12	1	2	0	1	0	1	0	3	0	3	0	3	2	2	5	3	2	3	6			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr20:50048649T>C	ENST00000396009.3	-	9	2896	c.2677A>G	c.(2677-2679)Acc>Gcc	p.T893A	NFATC2_ENST00000610033.1_Missense_Mutation_p.T674A|NFATC2_ENST00000371564.3_Missense_Mutation_p.T893A|NFATC2_ENST00000609943.1_Missense_Mutation_p.T873A|NFATC2_ENST00000609507.1_Missense_Mutation_p.T674A|NFATC2_ENST00000414705.1_Missense_Mutation_p.T873A	NM_001258297.1|NM_173091.3	NP_001245226.1|NP_775114.1	Q13469	NFAC2_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2	893					B cell receptor signaling pathway (GO:0050853)|cell migration (GO:0016477)|cellular response to DNA damage stimulus (GO:0006974)|cytokine production (GO:0001816)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|response to drug (GO:0042493)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear transcription factor complex (GO:0044798)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)		EWSR1/NFATC2(9)	breast(2)|endometrium(7)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	53	Hepatocellular(150;0.248)					TGTTTAATGGTCACCCCCGCA	0.522																																						ENST00000371564.3																		EWSR1/NFATC2(9)	0				breast(2)|endometrium(7)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	53						c.(2677-2679)Acc>Gcc		nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2							181	158	166					20																	50048649		2203	4300	6503	SO:0001583	missense	4773				B cell receptor signaling pathway|positive regulation of B cell proliferation|response to DNA damage stimulus|response to drug	actin cytoskeleton|nucleus|plasma membrane	protein binding|sequence-specific DNA binding transcription factor activity	g.chr20:50048649T>C	U43342, U43341	CCDS13437.1, CCDS33488.1, CCDS46614.1, CCDS68156.1, CCDS68157.1	20q13.2	2009-11-24			ENSG00000101096	ENSG00000101096		"Nuclear factor of activated T-cells"	7776	protein-coding gene	gene with protein product		600490				8202141	Standard	NM_012340		Approved	NF-ATP, NFATp, NFAT1	uc002xwd.4	Q13469	OTTHUMG00000032747	ENST00000396009.3:c.2677A>G	20.37:g.50048649T>C	ENSP00000379330:p.Thr893Ala					NFATC2_ENST00000396009.3_Missense_Mutation_p.T893A|NFATC2_ENST00000414705.1_Missense_Mutation_p.T873A	p.T893A	NM_001258296.1|NM_012340.4	NP_001245225.1|NP_036472.2	Q13469	NFAC2_HUMAN			9	2896	-	Hepatocellular(150;0.248)		893					B5B2N8|B5B2N9|B5B2P0|B5B2P2|B5B2P3|Q13468|Q5TFW7|Q5TFW8|Q9NPX6|Q9NQH3|Q9UJR2	Missense_Mutation	SNP	ENST00000396009.3	37	c.2677A>G	CCDS13437.1	.	.	.	.	.	.	.	.	.	.	T	15.20	2.762710	0.49574	.	.	ENSG00000101096	ENST00000371564;ENST00000396009;ENST00000414705	T;T;T	0.20463	2.07;2.17;2.1	5.42	5.42	0.78866	.	0.080877	0.53938	D	0.000058	T	0.25269	0.0614	L	0.61218	1.895	0.52099	D	0.999944	B;B;B;B	0.29835	0.011;0.258;0.084;0.04	B;B;B;B	0.24701	0.019;0.055;0.03;0.035	T	0.04029	-1.0983	10	0.87932	D	0	-5.0977	15.4755	0.75474	0.0:0.0:0.0:1.0	.	873;873;893;893	B5B2N9;B5B2P2;Q13469;B5B2N8	.;.;NFAC2_HUMAN;.	A	893;893;873	ENSP00000360619:T893A;ENSP00000379330:T893A;ENSP00000396471:T873A	ENSP00000360619:T893A	T	-	1	0	NFATC2	49482056	1.000000	0.71417	0.990000	0.47175	0.558000	0.35554	5.937000	0.70162	2.050000	0.60909	0.482000	0.46254	ACC		0.522	NFATC2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079730.2	NM_012340		7	213	0	0	0	1	0	7	213					C	50048649	T	C	50048649	3	2	305	1	0	0	0	0	1	0	0	0	10362	1667	58	4	156	4	NFATC2	20	50048649	Missense_Mutation	SNP	T	TCGA-KK-A59V-01A-11D-A29Q-08	852917	50048649	12976871	1071	15588											
ATP9A	10079	broad.mit.edu	37	chr20	50235572	50235572	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctcgaggtgagcctccccgCggttggtcacctggaaggga	6	7	16	12	3	1	1	1	1	0	0	3	4	2	3	4	5	1	2	4	5	1	1			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr20:50235572C>T	ENST00000338821.5	-	20	2390	c.2126G>A	c.(2125-2127)cGc>cAc	p.R709H	ATP9A_ENST00000311637.5_Missense_Mutation_p.R573H|ATP9A_ENST00000402822.1_Missense_Mutation_p.R588H	NM_006045.1	NP_006036.1	O75110	ATP9A_HUMAN	ATPase, class II, type 9A	709					phospholipid translocation (GO:0045332)	early endosome (GO:0005769)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(10)|lung(18)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						AGCCTCCCCGCGGTTGGTCAC	0.587																																						ENST00000338821.5																			0				breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(10)|lung(18)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						c.(2125-2127)cGc>cAc		ATPase, class II, type 9A							52	49	50					20																	50235572		2203	4300	6503	SO:0001583	missense	10079				ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr20:50235572C>T	AB014511	CCDS33489.1	20q13.2	2010-04-20	2007-09-19		ENSG00000054793	ENSG00000054793		"ATPases / P-type"	13540	protein-coding gene	gene with protein product		609126	"ATPase, Class II, type 9A"			9734811, 11015572	Standard	NM_006045		Approved	KIAA0611, ATPIIA	uc002xwg.1	O75110	OTTHUMG00000032751	ENST00000338821.5:c.2126G>A	20.37:g.50235572C>T	ENSP00000342481:p.Arg709His					ATP9A_ENST00000311637.5_Missense_Mutation_p.R573H|ATP9A_ENST00000402822.1_Missense_Mutation_p.R588H	p.R709H	NM_006045.1	NP_006036.1	O75110	ATP9A_HUMAN			20	2390	-			709					E1P5Y3|E1P5Y4|Q5TFW5|Q5TFW6|Q5TFW9|Q6ZMF3|Q9NQK6|Q9NQK7	Missense_Mutation	SNP	ENST00000338821.5	37	c.2126G>A	CCDS33489.1	.	.	.	.	.	.	.	.	.	.	C	25.2	4.616244	0.87359	.	.	ENSG00000054793	ENST00000311637;ENST00000338821;ENST00000402822	T;T;T	0.64438	-0.1;-0.1;-0.1	5.07	4.13	0.48395	HAD-like domain (2);	0.000000	0.85682	D	0.000000	T	0.81259	0.4785	M	0.89353	3.025	0.80722	D	1	B;D	0.89917	0.022;1.0	B;D	0.83275	0.004;0.996	D	0.84655	0.0703	10	0.87932	D	0	-28.4275	13.2174	0.59867	0.0:0.9225:0.0:0.0775	.	588;709	O75110-2;O75110	.;ATP9A_HUMAN	H	573;709;588	ENSP00000309086:R573H;ENSP00000342481:R709H;ENSP00000385875:R588H	ENSP00000309086:R573H	R	-	2	0	ATP9A	49668979	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	7.480000	0.81109	1.121000	0.41925	0.462000	0.41574	CGC		0.587	ATP9A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106494.1	NM_006045		16	35	0	0	0	1	0	16	35					T	50235572	C	T	50235572	3	4	305	1	0	0	0	0	1	0	0	0	1198	768	27	1	1053	1	ATP9A	20	50235572	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	186923	50235572	12789948	1072	15589											
SALL4	57167	broad.mit.edu	37	chr20	50408260	50408260	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cccaaggtcttcagagtgtcGgcccctgccccgcttgagtg	5	9	12	15	2	2	2	1	1	1	1	3	2	2	2	5	2	1	1	5	2	1	2	rs141546409	byFrequency	TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr20:50408260G>A	ENST00000217086.4	-	2	873	c.762C>T	c.(760-762)gcC>gcT	p.A254A	SALL4_ENST00000483130.1_5'Flank|SALL4_ENST00000395997.3_Silent_p.A254A|SALL4_ENST00000371539.3_Intron	NM_020436.3	NP_065169.1	Q9UJQ4	SALL4_HUMAN	spalt-like transcription factor 4	254					embryonic limb morphogenesis (GO:0030326)|inner cell mass cell proliferation (GO:0001833)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)|ventricular septum development (GO:0003281)	cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(27)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						TCAGAGTGTCGGCCCCTGCCC	0.602													G|||	8	0.00159744	0.0053	0	5008	,	,		18100	0		0	False		,,,				2504	0.001					ENST00000217086.4																			0				endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(27)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						c.(760-762)gcC>gcT		spalt-like transcription factor 4		G		9,4397		0,9,2194	31	31	31		762	-4.7	0	20	dbSNP_134	31	0,8600		0,0,4300	no	coding-synonymous	SALL4	NM_020436.3		0,9,6494	AA,AG,GG		0.0,0.2043,0.0692		254/1054	50408260	9,12997	2203	4300	6503	SO:0001819	synonymous_variant	57167				transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr20:50408260G>A	AK001666	CCDS13438.1	20q13.2	2014-09-17	2013-10-17		ENSG00000101115	ENSG00000101115		"Zinc fingers, C2H2-type"	15924	protein-coding gene	gene with protein product		607343	"sal (Drosophila)-like 4", "sal-like 4 (Drosophila)"				Standard	NM_020436		Approved	dJ1112F19.1, ZNF797	uc002xwh.4	Q9UJQ4	OTTHUMG00000032752	ENST00000217086.4:c.762C>T	20.37:g.50408260G>A						SALL4_ENST00000395997.3_Silent_p.A254A|SALL4_ENST00000371539.3_Intron	p.A254A	NM_020436.3	NP_065169.1	Q9UJQ4	SALL4_HUMAN			2	873	-			254					A2A2D8|Q540H3|Q6Y8G6	Silent	SNP	ENST00000217086.4	37	c.762C>T	CCDS13438.1																																																																																				0.602	SALL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079738.3			19	48	0	0	0	1	0	19	48					A	50408260	G	A	50408260	2	1	305	1	0	0	0	0	0	0	0	1	13813	1103	39	2		2	SALL4	20	50408260	Silent	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	172688	50408260	12617260	1073	15590											
BMP7	655	broad.mit.edu	37	chr20	55758849	55758849	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggttctggctgcgctgtttgCtccccgtggaccggatgctg	2	12	15	12	3	1	0	0	0	1	0	2	2	2	2	3	4	3	6	3	4	0	2			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr20:55758849C>T	ENST00000395863.3	-	4	1392	c.887G>A	c.(886-888)aGc>aAc	p.S296N	BMP7_ENST00000450594.2_Missense_Mutation_p.S296N|BMP7_ENST00000395864.3_Intron|BMP7_ENST00000460817.1_5'UTR	NM_001719.2	NP_001710.1	P18075	BMP7_HUMAN	bone morphogenetic protein 7	296					axon guidance (GO:0007411)|BMP signaling pathway (GO:0030509)|branching involved in salivary gland morphogenesis (GO:0060445)|branching morphogenesis of an epithelial tube (GO:0048754)|cartilage development (GO:0051216)|cellular response to hypoxia (GO:0071456)|dendrite development (GO:0016358)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic limb morphogenesis (GO:0030326)|embryonic pattern specification (GO:0009880)|embryonic skeletal joint morphogenesis (GO:0060272)|epithelial cell differentiation (GO:0030855)|epithelial to mesenchymal transition (GO:0001837)|extracellular matrix organization (GO:0030198)|growth (GO:0040007)|mesenchymal cell differentiation (GO:0048762)|mesenchyme development (GO:0060485)|mesoderm formation (GO:0001707)|mesonephros development (GO:0001823)|metanephric mesenchymal cell proliferation involved in metanephros development (GO:0072136)|metanephric mesenchyme morphogenesis (GO:0072133)|metanephros development (GO:0001656)|monocyte aggregation (GO:0070487)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell death (GO:0060548)|negative regulation of glomerular mesangial cell proliferation (GO:0072125)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of mesenchymal cell apoptotic process involved in nephron morphogenesis (GO:0072040)|negative regulation of mitosis (GO:0045839)|negative regulation of neurogenesis (GO:0050768)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of phosphorylation (GO:0042326)|negative regulation of prostatic bud formation (GO:0060686)|negative regulation of striated muscle cell apoptotic process (GO:0010664)|negative regulation of transcription, DNA-templated (GO:0045892)|nephrogenic mesenchyme morphogenesis (GO:0072134)|neuron projection morphogenesis (GO:0048812)|odontogenesis of dentin-containing tooth (GO:0042475)|ossification (GO:0001503)|positive regulation of apoptotic process (GO:0043065)|positive regulation of bone mineralization (GO:0030501)|positive regulation of dendrite development (GO:1900006)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of hyaluranon cable assembly (GO:1900106)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein localization to nucleus (GO:0034504)|regulation of branching involved in prostate gland morphogenesis (GO:0060687)|regulation of pathway-restricted SMAD protein phosphorylation (GO:0060393)|regulation of removal of superoxide radicals (GO:2000121)|response to estradiol (GO:0032355)|response to peptide hormone (GO:0043434)|response to vitamin D (GO:0033280)|skeletal system development (GO:0001501)|SMAD protein signal transduction (GO:0060395)|steroid hormone mediated signaling pathway (GO:0043401)|ureteric bud development (GO:0001657)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane-bounded vesicle (GO:0031988)	heparin binding (GO:0008201)			endometrium(4)|kidney(1)|large_intestine(7)|lung(6)|prostate(1)|skin(1)	20	all_lung(29;0.0133)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(4;2.49e-13)|Epithelial(14;1.74e-08)|all cancers(14;2.05e-07)			GCGCTGTTTGCTCCCCGTGGA	0.632																																						ENST00000395863.3																			0				endometrium(4)|kidney(1)|large_intestine(7)|lung(6)|prostate(1)|skin(1)	20						c.(886-888)aGc>aAc		bone morphogenetic protein 7							82	72	75					20																	55758849		2203	4300	6503	SO:0001583	missense	655				BMP signaling pathway|cartilage development|cellular response to hypoxia|epithelial to mesenchymal transition|growth|mesonephros development|negative regulation of glomerular mesangial cell proliferation|negative regulation of MAP kinase activity|negative regulation of mitosis|negative regulation of neuron differentiation|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|negative regulation of phosphorylation|negative regulation of striated muscle cell apoptosis|negative regulation of transcription, DNA-dependent|ossification|pathway-restricted SMAD protein phosphorylation|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|protein localization to nucleus|regulation of removal of superoxide radicals|SMAD protein signal transduction|steroid hormone mediated signaling pathway|ureteric bud development	extracellular space	cytokine activity|growth factor activity	g.chr20:55758849C>T		CCDS13455.1	20q13	2014-01-30	2008-05-22		ENSG00000101144	ENSG00000101144		"Bone morphogenetic proteins", "Endogenous ligands"	1074	protein-coding gene	gene with protein product	"osteogenic protein 1"	112267				1427904	Standard	NM_001719		Approved	OP-1	uc010gip.1	P18075	OTTHUMG00000032812	ENST00000395863.3:c.887G>A	20.37:g.55758849C>T	ENSP00000379204:p.Ser296Asn					BMP7_ENST00000450594.2_Missense_Mutation_p.S296N|BMP7_ENST00000395864.3_Intron|BMP7_ENST00000460817.1_5'UTR	p.S296N	NM_001719.2	NP_001710.1	P18075	BMP7_HUMAN	BRCA - Breast invasive adenocarcinoma(4;2.49e-13)|Epithelial(14;1.74e-08)|all cancers(14;2.05e-07)		4	1392	-	all_lung(29;0.0133)|Melanoma(10;0.242)		296					Q9H512|Q9NTQ7	Missense_Mutation	SNP	ENST00000395863.3	37	c.887G>A	CCDS13455.1	.	.	.	.	.	.	.	.	.	.	C	8.533	0.871450	0.17322	.	.	ENSG00000101144	ENST00000395863;ENST00000450594	T;T	0.80566	-0.93;-1.39	5.48	1.0	0.19881	.	0.488812	0.25405	N	0.030912	T	0.60025	0.2237	N	0.11560	0.145	0.09310	N	0.99999	B;B	0.06786	0.0;0.001	B;B	0.06405	0.001;0.002	T	0.38908	-0.9639	10	0.13108	T	0.6	.	12.6431	0.56720	0.121:0.5288:0.3502:0.0	.	296;296	P18075;B1AL00	BMP7_HUMAN;.	N	296	ENSP00000379204:S296N;ENSP00000398687:S296N	ENSP00000379204:S296N	S	-	2	0	BMP7	55192256	1.000000	0.71417	0.697000	0.30258	0.946000	0.59487	3.154000	0.50693	0.236000	0.21180	0.643000	0.83706	AGC		0.632	BMP7-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000079831.2			25	94	0	0	0	1	0	25	94					T	55758849	C	T	55758849	3	4	305	1	0	0	0	0	1	0	0	0	1465	797	28	3	424	3	BMP7	20	55758849	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	5350589	55758849	7266671	1074	15591											
ZNF831	128611	broad.mit.edu	37	chr20	57768008	57768008	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tccccatggaggcaagaaagCcagggaggtgggaatgggca	12	4	17	8	0	0	1	0	0	0	1	1	4	1	4	3	6	1	2	3	6	3	0			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr20:57768008C>T	ENST00000371030.2	+	1	1934	c.1934C>T	c.(1933-1935)gCc>gTc	p.A645V		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	645							metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					GGCAAGAAAGCCAGGGAGGTG	0.567																																						ENST00000371030.2																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125						c.(1933-1935)gCc>gTc		zinc finger protein 831							64	74	71					20																	57768008		2029	4179	6208	SO:0001583	missense	128611					intracellular	nucleic acid binding|zinc ion binding	g.chr20:57768008C>T	AL121919	CCDS42894.1	20q13.32	2008-10-20	2008-03-25	2008-03-25	ENSG00000124203	ENSG00000124203			16167	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 174"	C20orf174			Standard	NM_178457		Approved	dJ492J12.1	uc002yan.3	Q5JPB2	OTTHUMG00000032864	ENST00000371030.2:c.1934C>T	20.37:g.57768008C>T	ENSP00000360069:p.Ala645Val						p.A645V	NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN			1	1934	+	all_lung(29;0.0085)		645					Q5TDR4|Q8TCP0	Missense_Mutation	SNP	ENST00000371030.2	37	c.1934C>T	CCDS42894.1	.	.	.	.	.	.	.	.	.	.	C	12.40	1.927790	0.34002	.	.	ENSG00000124203	ENST00000371030	T	0.04654	3.58	5.09	0.446	0.16602	.	1.635060	0.03338	N	0.194334	T	0.04724	0.0128	L	0.44542	1.39	0.09310	N	1	B	0.13145	0.007	B	0.08055	0.003	T	0.43605	-0.9381	10	0.13108	T	0.6	-0.3161	2.8837	0.05655	0.3752:0.3068:0.2341:0.0839	.	645	Q5JPB2	ZN831_HUMAN	V	645	ENSP00000360069:A645V	ENSP00000360069:A645V	A	+	2	0	ZNF831	57201403	0.000000	0.05858	0.000000	0.03702	0.210000	0.24377	-0.040000	0.12104	0.120000	0.18254	0.655000	0.94253	GCC		0.567	ZNF831-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000079916.2	NM_178457		36	85	0	0	0	1	0	36	85					T	57768008	C	T	57768008	3	4	305	1	0	0	0	0	1	0	0	0	18182	739	26	3	1936	3	ZNF831	20	57768008	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	2009159	57768008	5257512	1075	15592											
SS18L1	26039	broad.mit.edu	37	chr20	60749651	60749651	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtacggaagctaccgagcacCgcagacagcgccgtctgccc	9	4	12	16	5	1	1	0	0	1	1	1	3	1	2	4	1	6	4	4	1	3	2			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr20:60749651C>T	ENST00000331758.3	+	10	1141	c.1115C>T	c.(1114-1116)cCg>cTg	p.P372L	SS18L1_ENST00000421564.1_Missense_Mutation_p.P372L|SS18L1_ENST00000370848.4_Missense_Mutation_p.P375L	NM_198935.1	NP_945173.1	O75177	CREST_HUMAN	synovial sarcoma translocation gene on chromosome 18-like 1	372	Gln-rich.|Necessary for nuclear localization. {ECO:0000250}.				chromatin modification (GO:0016568)|dendrite development (GO:0016358)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of dendrite development (GO:0050773)|transcription, DNA-templated (GO:0006351)	condensed nuclear chromosome, centromeric region (GO:0000780)|kinetochore (GO:0000776)|nuclear body (GO:0016604)|nucleus (GO:0005634)			SS18L1/SSX1(2)	ovary(2)|skin(1)	3	Breast(26;3.97e-09)		BRCA - Breast invasive adenocarcinoma(19;1.92e-08)			TACCGAGCACCGCAGACAGCG	0.637			T	SSX1	synovial sarcoma																																	ENST00000331758.3				Dom	yes		20	20q13.3	26039	T	synovial sarcoma translocation gene on chromosome 18-like 1			M	SSX1		synovial sarcoma	SS18L1/SSX1(2)	0				ovary(2)|skin(1)	3						c.(1114-1116)cCg>cTg		synovial sarcoma translocation gene on chromosome 18-like 1							82	86	85					20																	60749651		2203	4300	6503	SO:0001583	missense	26039				chromatin modification|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	condensed chromosome kinetochore		g.chr20:60749651C>T	AB014593	CCDS13491.1	20q13.3	2008-07-28			ENSG00000184402	ENSG00000184402			15592	protein-coding gene	gene with protein product		606472					Standard	XM_005260389		Approved	KIAA0693	uc002ycb.3	O75177	OTTHUMG00000032902	ENST00000331758.3:c.1115C>T	20.37:g.60749651C>T	ENSP00000333012:p.Pro372Leu					SS18L1_ENST00000370848.4_Missense_Mutation_p.P375L|SS18L1_ENST00000421564.1_Missense_Mutation_p.P372L	p.P372L	NM_198935.1	NP_945173.1	O75177	CREST_HUMAN	BRCA - Breast invasive adenocarcinoma(19;1.92e-08)		10	1141	+	Breast(26;3.97e-09)		372			Gln-rich.|Necessary for nuclear localization (By similarity).		A6NNE3|A8K620|B3KWR8|E1P5H7|Q5JXJ3|Q6MZV9|Q6NTH3|Q6XYD9|Q8NE69|Q9BR55|Q9H4K6	Missense_Mutation	SNP	ENST00000331758.3	37	c.1115C>T	CCDS13491.1	.	.	.	.	.	.	.	.	.	.	C	17.80	3.477945	0.63849	.	.	ENSG00000184402	ENST00000421564;ENST00000331758;ENST00000370848	T;T;T	0.30981	1.53;1.53;1.51	5.02	5.02	0.67125	.	0.184196	0.48286	D	0.000183	T	0.20333	0.0489	N	0.24115	0.695	0.44880	D	0.997894	P;P	0.41710	0.76;0.727	B;B	0.27500	0.08;0.078	T	0.11991	-1.0565	10	0.87932	D	0	-5.8406	18.6966	0.91603	0.0:1.0:0.0:0.0	.	372;372	B4DSR7;O75177	.;CREST_HUMAN	L	372;372;375	ENSP00000393999:P372L;ENSP00000333012:P372L;ENSP00000359885:P375L	ENSP00000333012:P372L	P	+	2	0	SS18L1	60183046	0.978000	0.34361	0.032000	0.17829	0.769000	0.43574	7.398000	0.79919	2.503000	0.84419	0.491000	0.48974	CCG		0.637	SS18L1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080004.2			4	193	0	0	0	1	0	4	193					T	60749651	C	T	60749651	3	4	305	1	0	0	0	0	1	0	0	0	15175	652	23	2	1153	2	SS18L1	20	60749651	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	2981643	60749651	2275869	1076	15593											
DIDO1	11083	broad.mit.edu	37	chr20	61510982	61510982	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctcctcctgtcctcggacGcccggccctgggcgtcgggc	1	8	13	19	5	1	0	0	0	1	0	6	1	3	1	5	4	0	0	5	4	0	0			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr20:61510982G>A	ENST00000266070.4	-	16	6651	c.6326C>T	c.(6325-6327)gCg>gTg	p.A2109V	DIDO1_ENST00000395343.1_Missense_Mutation_p.A2109V	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	2109	Arg-rich.				apoptotic signaling pathway (GO:0097190)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					GTCCTCGGACGCCCGGCCCTG	0.677																																					Melanoma(25;381 482 3385 5362 7955 17159 17174 40604 47095)	ENST00000266070.4																			0				NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99						c.(6325-6327)gCg>gTg		death inducer-obliterator 1							59	72	68					20																	61510982		2194	4278	6472	SO:0001583	missense	11083				apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding	g.chr20:61510982G>A	AB002331	CCDS13508.2, CCDS13509.1, CCDS33506.1	20q13.33	2013-01-28	2005-11-11	2005-11-11	ENSG00000101191	ENSG00000101191		"Zinc fingers, PHD-type"	2680	protein-coding gene	gene with protein product		604140	"chromosome 20 open reading frame 158", "death associated transcription factor 1"	C20orf158, DATF1		10393935	Standard	NM_033081		Approved	DIO1, dJ885L7.8, FLJ11265, KIAA0333, DIO-1, BYE1	uc002ydr.2	Q9BTC0	OTTHUMG00000032945	ENST00000266070.4:c.6326C>T	20.37:g.61510982G>A	ENSP00000266070:p.Ala2109Val					DIDO1_ENST00000395343.1_Missense_Mutation_p.A2109V	p.A2109V	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN			16	6651	-	Breast(26;5.68e-08)		2109			Arg-rich.		A8MY65|B9EH82|E1P5I1|O15043|Q3ZTL7|Q3ZTL8|Q4VXS1|Q4VXS2|Q4VXV8|Q4VXV9|Q96D72|Q9BQW0|Q9BW03|Q9H4G6|Q9H4G7|Q9NTU8|Q9NUM8|Q9UFB6	Missense_Mutation	SNP	ENST00000266070.4	37	c.6326C>T	CCDS33506.1	.	.	.	.	.	.	.	.	.	.	G	7.540	0.660475	0.14645	.	.	ENSG00000101191	ENST00000266070;ENST00000395343	T;T	0.44083	0.93;0.93	5.47	-0.383	0.12477	.	0.577931	0.13827	N	0.360013	T	0.32376	0.0827	L	0.51422	1.61	0.18873	N	0.999989	B	0.29508	0.246	B	0.17722	0.019	T	0.14924	-1.0455	10	0.42905	T	0.14	-9.5192	10.8305	0.46656	0.1488:0.4835:0.3678:0.0	.	2109	Q9BTC0	DIDO1_HUMAN	V	2109	ENSP00000266070:A2109V;ENSP00000378752:A2109V	ENSP00000266070:A2109V	A	-	2	0	DIDO1	60981427	0.016000	0.18221	0.001000	0.08648	0.017000	0.09413	0.763000	0.26517	0.010000	0.14839	-0.165000	0.13383	GCG		0.677	DIDO1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080091.2	NM_080796		89	225	0	0	0	1	0	89	225					A	61510982	G	A	61510982	3	1	305	1	0	0	0	0	1	0	0	0	4522	1087	38	1	400	1	DIDO1	20	61510982	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	761331	61510982	1514538	1077	15594											
SAMD10	140700	broad.mit.edu	37	chr20	62607080	62607080	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaggctccgcccctcctcaCgcacctgcaggcggagcacc	6	4	11	20	3	1	0	1	0	0	0	3	1	3	1	6	3	2	5	6	3	0	0			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr20:62607080C>T	ENST00000369886.3	-	4	725	c.551G>A	c.(550-552)cGt>cAt	p.R184H	ZNF512B_ENST00000450537.1_Intron|ZNF512B_ENST00000217130.3_Intron|SAMD10_ENST00000498830.1_5'UTR	NM_080621.4	NP_542188.1	Q9BYL1	SAM10_HUMAN	sterile alpha motif domain containing 10	184	SAM. {ECO:0000255|PROSITE- ProRule:PRU00184}.									kidney(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|prostate(1)	7	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)					CCCCTCCTCACGCACCTGCAG	0.682																																						ENST00000369886.3																			0				kidney(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|prostate(1)	7						c.(550-552)cGt>cAt		sterile alpha motif domain containing 10							51	57	55					20																	62607080		2203	4299	6502	SO:0001583	missense	140700							g.chr20:62607080C>T		CCDS13549.1	20q13.33	2013-01-10	2004-07-15	2004-07-16	ENSG00000130590	ENSG00000130590		"Sterile alpha motif (SAM) domain containing"	16129	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 136"	C20orf136			Standard	NM_080621		Approved		uc002yhm.2	Q9BYL1	OTTHUMG00000033011	ENST00000369886.3:c.551G>A	20.37:g.62607080C>T	ENSP00000358902:p.Arg184His					ZNF512B_ENST00000450537.1_Intron|ZNF512B_ENST00000217130.3_Intron|SAMD10_ENST00000498830.1_5'UTR	p.R184H	NM_080621.4	NP_542188.1	Q9BYL1	SAM10_HUMAN			4	725	-	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)		184			SAM.			Missense_Mutation	SNP	ENST00000369886.3	37	c.551G>A	CCDS13549.1	.	.	.	.	.	.	.	.	.	.	C	17.02	3.280710	0.59758	.	.	ENSG00000130590	ENST00000369886	.	.	.	3.99	3.04	0.35103	Sterile alpha motif domain (2);Sterile alpha motif/pointed domain (2);	0.248924	0.33075	U	0.005313	T	0.40791	0.1131	L	0.44542	1.39	0.45806	D	0.998681	P	0.42584	0.784	B	0.34590	0.186	T	0.39057	-0.9632	9	0.72032	D	0.01	-7.1777	11.4399	0.50090	0.0:0.91:0.0:0.09	.	184	Q9BYL1	SAM10_HUMAN	H	184	.	ENSP00000358902:R184H	R	-	2	0	SAMD10	62077524	0.993000	0.37304	0.998000	0.56505	0.992000	0.81027	3.058000	0.49939	0.683000	0.31428	0.491000	0.48974	CGT		0.682	SAMD10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080255.1	NM_080621		50	99	0	0	0	1	0	50	99					T	62607080	C	T	62607080	3	4	305	1	0	0	0	0	1	0	0	0	13815	536	19	1	65	1	SAMD10	20	62607080	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	1096098	62607080	418440	1078	15595											
KRTAP26-1	388818	broad.mit.edu	37	chr21	31692135	31692135	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caagaggtttcaagattgccGgtctcacagtggaccggctg	9	9	13	10	2	2	2	2	0	1	2	3	3	2	3	2	4	1	2	2	4	2	2	rs374733847		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr21:31692135G>A	ENST00000360542.3	-	1	472	c.219C>T	c.(217-219)acC>acT	p.T73T		NM_203405.1	NP_981950.1	Q6PEX3	KR261_HUMAN	keratin associated protein 26-1	73						intermediate filament (GO:0005882)				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	16						CAAGATTGCCGGTCTCACAGT	0.532																																						ENST00000360542.3																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	16						c.(217-219)acC>acT		keratin associated protein 26-1							113	112	113					21																	31692135		2203	4300	6503	SO:0001819	synonymous_variant	388818					intermediate filament		g.chr21:31692135G>A	AB096936	CCDS13588.1	21q22.11	2007-11-23			ENSG00000197683	ENSG00000197683		"Keratin associated proteins"	33760	protein-coding gene	gene with protein product							Standard	NM_203405		Approved		uc002ynw.3	Q6PEX3	OTTHUMG00000057766	ENST00000360542.3:c.219C>T	21.37:g.31692135G>A							p.T73T	NM_203405.1	NP_981950.1	Q6PEX3	KR261_HUMAN			1	472	-			73					B0RZD3	Silent	SNP	ENST00000360542.3	37	c.219C>T	CCDS13588.1																																																																																				0.532	KRTAP26-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128218.1	NM_203405		67	151	0	0	0	1	0	67	151					A	31692135	G	A	31692135	2	1	305	1	0	0	0	0	0	0	0	1	8543	1103	39	2		2	KRTAP26-1	21	31692135	Silent	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08		31692135	16437760	1079	15596											
ITSN1	6453	broad.mit.edu	37	chr21	35122567	35122567	+	Frame_Shift_Del	DEL	C	C	-																															ctgttcccacagcagctgtgCcccccctggctaacggggct																										TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr21:35122567delC	ENST00000381318.3	+	6	754	c.466delC	c.(466-468)cccfs	p.P157fs	ITSN1_ENST00000399326.3_Frame_Shift_Del_p.P157fs|ITSN1_ENST00000399353.1_Frame_Shift_Del_p.P120fs|ITSN1_ENST00000399338.4_Frame_Shift_Del_p.P157fs|ITSN1_ENST00000437442.2_Frame_Shift_Del_p.P157fs|ITSN1_ENST00000381291.4_Frame_Shift_Del_p.P157fs|ITSN1_ENST00000399349.1_Frame_Shift_Del_p.P157fs|AP000304.12_ENST00000429238.1_Intron|ITSN1_ENST00000399355.2_Frame_Shift_Del_p.P157fs|ITSN1_ENST00000399367.3_Frame_Shift_Del_p.P157fs|ITSN1_ENST00000379960.5_Frame_Shift_Del_p.P157fs|ITSN1_ENST00000381285.4_Frame_Shift_Del_p.P157fs|ITSN1_ENST00000399352.1_Frame_Shift_Del_p.P157fs	NM_003024.2	NP_003015.2	Q15811	ITSN1_HUMAN	intersectin 1 (SH3 domain protein)	157					apoptotic signaling pathway (GO:0097190)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|synaptic vesicle endocytosis (GO:0048488)	cell junction (GO:0030054)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|lamellipodium (GO:0030027)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)	calcium ion binding (GO:0005509)|guanyl-nucleotide exchange factor activity (GO:0005085)|kinase activator activity (GO:0019209)|proline-rich region binding (GO:0070064)|protein complex scaffold (GO:0032947)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(26)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	67						AGCAGCTGTGCCCCCCCTGGC	0.522																																						ENST00000381318.3																			0				breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(26)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	67						c.(466-468)ccfs		intersectin 1 (SH3 domain protein)							120	103	109					21																	35122567		2203	4300	6503	SO:0001589	frameshift_variant	6453				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic vesicle endocytosis	cell junction|coated pit|cytosol|lamellipodium|synapse|synaptosome	calcium ion binding|proline-rich region binding|protein complex scaffold|Rho guanyl-nucleotide exchange factor activity	g.chr21:35122567delC	AF064244	CCDS33545.1, CCDS33546.1	21q22.1-q22.2	2013-01-10			ENSG00000205726	ENSG00000205726		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing", "EF-hand domain containing"	6183	protein-coding gene	gene with protein product	"SH3 domain protein-1A", "human intersectin-SH3 domain-containing protein SH3P17", "Src homology 3 domain-containing protein", "intersectin 1 short form variant, 11", "intersectin 1 short form variant 3", "intersectin short variant 12"	602442		SH3D1A, ITSN		9799604, 9813051	Standard	NM_003024		Approved	SH3P17, MGC134948, MGC134949	uc002yta.1	Q15811	OTTHUMG00000065284	ENST00000381318.3:c.466delC	21.37:g.35122567delC	ENSP00000370719:p.Pro157fs					ITSN1_ENST00000381285.4_Frame_Shift_Del_p.P157fs|ITSN1_ENST00000399349.1_Frame_Shift_Del_p.P157fs|AP000304.12_ENST00000429238.1_Intron|ITSN1_ENST00000399355.2_Frame_Shift_Del_p.P157fs|ITSN1_ENST00000437442.2_Frame_Shift_Del_p.P157fs|ITSN1_ENST00000399367.3_Frame_Shift_Del_p.P157fs|ITSN1_ENST00000399326.3_Frame_Shift_Del_p.P157fs|ITSN1_ENST00000399353.1_Frame_Shift_Del_p.P120fs|ITSN1_ENST00000399352.1_Frame_Shift_Del_p.P157fs|ITSN1_ENST00000379960.5_Frame_Shift_Del_p.P157fs|ITSN1_ENST00000399338.4_Frame_Shift_Del_p.P157fs|ITSN1_ENST00000381291.4_Frame_Shift_Del_p.P157fs	p.P157fs	NM_003024.2	NP_003015.2	Q15811	ITSN1_HUMAN			6	754	+			157					A7Y322|A8CTX8|A8CTY3|A8CTY7|A8D7D0|A8DCP3|B4DTM2|E7ERJ1|E9PE44|E9PG01|E9PHV2|O95216|Q0PW94|Q0PW95|Q0PW97|Q14BD3|Q1ED40|Q20BK3|Q9UET5|Q9UK60|Q9UNK1|Q9UNK2|Q9UQ92	Frame_Shift_Del	DEL	ENST00000381318.3	37	c.466delC	CCDS33545.1																																																																																				0.522	ITSN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000140070.4	NM_003024		14	79						14	79	---	---	---	---	-	35122567	C	-	35122567	7	5	305	1	0	1	0	1	0	0	0	0	7926	739	26	0	484	0	ITSN1	21	35122567	Frame_Shift_Del	DEL	C	TCGA-KK-A59V-01A-11D-A29Q-08	3430432	35122567	13007328	1080	15597											
KCNE2	9992	broad.mit.edu	37	chr21	35743007	35743007	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cactgtgaaatccaagagacGggaacactccaatgacccct	14	6	8	13	1	0	3	0	2	0	1	2	5	2	4	4	1	1	0	4	1	4	0	rs199473365		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr21:35743007G>A	ENST00000290310.3	+	2	370	c.230G>A	c.(229-231)cGg>cAg	p.R77Q	AP000320.6_ENST00000440403.1_RNA	NM_172201.1	NP_751951.1	Q9Y6J6	KCNE2_HUMAN	potassium voltage-gated channel, Isk-related family, member 2	77			R -> W (in LQT6). {ECO:0000269|PubMed:16922724}.		aging (GO:0007568)|cardiac muscle cell action potential involved in contraction (GO:0086002)|cellular protein localization (GO:0034613)|cellular response to drug (GO:0035690)|membrane repolarization (GO:0086009)|membrane repolarization during action potential (GO:0086011)|positive regulation of proteasomal protein catabolic process (GO:1901800)|potassium ion export (GO:0071435)|potassium ion import (GO:0010107)|potassium ion transmembrane transport (GO:0071805)|regulation of cyclic nucleotide-gated ion channel activity (GO:1902159)|regulation of delayed rectifier potassium channel activity (GO:1902259)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of inward rectifier potassium channel activity (GO:1901979)|regulation of membrane repolarization (GO:0060306)|regulation of potassium ion transmembrane transport (GO:1901379)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|tongue development (GO:0043586)|ventricular cardiac muscle cell action potential (GO:0086005)	cell surface (GO:0009986)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|inward rectifier potassium channel activity (GO:0005242)|ion channel binding (GO:0044325)|potassium channel regulator activity (GO:0015459)|voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization (GO:1902282)			endometrium(1)|large_intestine(1)	2						TCCAAGAGACGGGAACACTCC	0.463																																						ENST00000290310.2																			0				endometrium(1)|large_intestine(1)	2						c.(229-231)cGg>cAg		potassium voltage-gated channel, Isk-related family, member 2		G	GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	122	107	112		230	-4.3	0	21		112	0,8600		0,0,4300	no	missense	KCNE2	NM_172201.1	43	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	77/124	35743007	1,13005	2203	4300	6503	SO:0001583	missense	0				blood circulation|muscle contraction|regulation of heart contraction	lysosome|voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr21:35743007G>A	AF071002	CCDS13635.1	21q22.1	2014-09-17			ENSG00000159197	ENSG00000159197		"Potassium channels"	6242	protein-coding gene	gene with protein product		603796				10219239	Standard	NM_172201		Approved	MiRP1, LQT6	uc002ytt.1	Q9Y6J6	OTTHUMG00000086189	ENST00000290310.3:c.230G>A	21.37:g.35743007G>A	ENSP00000290310:p.Arg77Gln						p.R77Q	NM_172201.1	NP_751951.1	Q9Y6J6	KCNE2_HUMAN			2	370	+			77		R -> W (in LQT6).			A5H1P3|D3DSF8|Q52LJ5	Missense_Mutation	SNP	ENST00000290310.3	37	c.230G>A	CCDS13635.1	.	.	.	.	.	.	.	.	.	.	G	7.880	0.729935	0.15507	2.27E-4	0.0	ENSG00000159197	ENST00000290310	D	0.92099	-2.97	5.66	-4.35	0.03656	.	0.688829	0.12899	N	0.429901	D	0.84392	0.5462	L	0.27053	0.805	0.09310	N	0.999997	B	0.11235	0.004	B	0.12156	0.007	T	0.65034	-0.6266	10	0.21540	T	0.41	-12.3146	15.8439	0.78871	0.333:0.0:0.667:0.0	.	77	Q9Y6J6	KCNE2_HUMAN	Q	77	ENSP00000290310:R77Q	ENSP00000290310:R77Q	R	+	2	0	KCNE2	34664877	0.003000	0.15002	0.017000	0.16124	0.513000	0.34164	0.041000	0.13927	-0.693000	0.05121	-0.946000	0.02672	CGG		0.463	KCNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194068.2			17	43	0	0	0	1	0	17	43					A	35743007	G	A	35743007	3	1	305	1	0	0	0	0	1	0	0	0	8023	1116	39	2	232	2	KCNE2	21	35743007	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	620440	35743007	12386888	1081	15598											
DOPEY2	9980	broad.mit.edu	37	chr21	37609603	37609603	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcagctgaacaaagagacccGggagcatcacgtcacctgcg	12	5	11	13	3	3	2	3	1	0	1	3	4	3	3	2	1	4	2	2	1	2	0	rs375875949		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr21:37609603G>A	ENST00000399151.3	+	16	2751	c.2666G>A	c.(2665-2667)cGg>cAg	p.R889Q		NM_005128.2	NP_005119.2	Q9Y3R5	DOP2_HUMAN	dopey family member 2	889					cognition (GO:0050890)|endoplasmic reticulum organization (GO:0007029)|Golgi to endosome transport (GO:0006895)|multicellular organismal development (GO:0007275)|protein transport (GO:0015031)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						AAAGAGACCCGGGAGCATCAC	0.592																																						ENST00000399151.3																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						c.(2665-2667)cGg>cAg		dopey family member 2							116	97	103					21																	37609603		2203	4300	6503	SO:0001583	missense	9980				endoplasmic reticulum organization|Golgi to endosome transport|multicellular organismal development|protein transport	Golgi membrane		g.chr21:37609603G>A	AJ237839	CCDS13643.1	21q22.2	2013-03-05	2006-02-02	2006-02-02	ENSG00000142197	ENSG00000142197			1291	protein-coding gene	gene with protein product		604803	"chromosome 21 open reading frame 5"	C21orf5		16301316, 16303751, 10931277	Standard	NM_005128		Approved	KIAA0933	uc002yvg.3	Q9Y3R5	OTTHUMG00000086619	ENST00000399151.3:c.2666G>A	21.37:g.37609603G>A	ENSP00000382104:p.Arg889Gln						p.R889Q	NM_005128.2	NP_005119.2	Q9Y3R5	DOP2_HUMAN			16	2751	+			889					D3DSG5|Q6PJQ7|Q9UEZ3	Missense_Mutation	SNP	ENST00000399151.3	37	c.2666G>A	CCDS13643.1	.	.	.	.	.	.	.	.	.	.	G	14.69	2.611008	0.46631	.	.	ENSG00000142197	ENST00000399151	T	0.65916	-0.18	5.3	2.04	0.26737	.	0.059391	0.64402	D	0.000004	T	0.45736	0.1357	L	0.46157	1.445	0.32773	N	0.503532	P	0.42296	0.775	B	0.28916	0.096	T	0.56745	-0.7928	10	0.28530	T	0.3	-5.6675	11.8806	0.52574	0.2241:0.0:0.7759:0.0	.	889	Q9Y3R5	DOP2_HUMAN	Q	889	ENSP00000382104:R889Q	ENSP00000382104:R889Q	R	+	2	0	DOPEY2	36531473	0.845000	0.29573	0.997000	0.53966	0.979000	0.70002	3.059000	0.49947	0.635000	0.30488	0.591000	0.81541	CGG		0.592	DOPEY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194636.1	NM_005128		6	89	0	0	0	1	0	6	89					A	37609603	G	A	37609603	3	1	305	1	0	0	0	0	1	0	0	0	4708	1116	39	2	2724	2	DOPEY2	21	37609603	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	1866596	37609603	10520292	1082	15599											
TTC3	7267	broad.mit.edu	37	chr21	38460555	38460555	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctgtcctgcaagattattgcGatgccattaaaataaacatc	14	12	6	9	1	0	1	0	0	0	1	2	2	1	1	2	0	4	1	2	0	6	4			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr21:38460555G>A	ENST00000399017.2	+	4	2994	c.247G>A	c.(247-249)Gat>Aat	p.D83N	TTC3_ENST00000479930.1_3'UTR|TTC3_ENST00000399010.1_Missense_Mutation_p.D83N|TTC3_ENST00000540756.1_Intron|TTC3_ENST00000355666.1_Missense_Mutation_p.D83N|TTC3_ENST00000354749.2_Missense_Mutation_p.D83N	NM_003316.3	NP_003307.3	P53804	TTC3_HUMAN	tetratricopeptide repeat domain 3	83					negative regulation of cell morphogenesis involved in differentiation (GO:0010771)|negative regulation of neuron differentiation (GO:0045665)|protein K48-linked ubiquitination (GO:0070936)|ubiquitin-dependent protein catabolic process (GO:0006511)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|vacuole (GO:0005773)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(5)|endometrium(7)|kidney(5)|large_intestine(17)|liver(1)|lung(18)|ovary(4)|prostate(2)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(5)	75		Myeloproliferative disorder(46;0.0412)				AGATTATTGCGATGCCATTAA	0.348																																					Ovarian(38;194 1649 35661)	ENST00000399017.2																			0				breast(5)|endometrium(7)|kidney(5)|large_intestine(17)|liver(1)|lung(18)|ovary(4)|prostate(2)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(5)	75						c.(247-249)Gat>Aat		tetratricopeptide repeat domain 3							96	85	88					21																	38460555		2203	4300	6503	SO:0001583	missense	7267				protein K48-linked ubiquitination|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr21:38460555G>A	D84296	CCDS13651.1	21q22.2	2013-01-11			ENSG00000182670	ENSG00000182670		"RING-type (C3HC4) zinc fingers", "Tetratricopeptide (TTC) repeat domain containing"	12393	protein-coding gene	gene with protein product		602259				8947847	Standard	NM_003316		Approved	TPRD, TPRDI, DCRR1, TPRDII, TPRDIII, RNF105	uc002yvz.3	P53804	OTTHUMG00000086654	ENST00000399017.2:c.247G>A	21.37:g.38460555G>A	ENSP00000381981:p.Asp83Asn					TTC3_ENST00000540756.1_Intron|TTC3_ENST00000354749.2_Missense_Mutation_p.D83N|TTC3_ENST00000355666.1_Missense_Mutation_p.D83N|TTC3_ENST00000399010.1_Missense_Mutation_p.D83N|TTC3_ENST00000479930.1_3'UTR	p.D83N	NM_003316.3	NP_003307.3	P53804	TTC3_HUMAN			4	2994	+		Myeloproliferative disorder(46;0.0412)	83					A8K7H7|B2RPA7|D3DSG9|D3DSH2|D3DSH3|O60767|P78476|P78477|Q569I2|Q6P578|Q9UEK4	Missense_Mutation	SNP	ENST00000399017.2	37	c.247G>A	CCDS13651.1	.	.	.	.	.	.	.	.	.	.	G	15.71	2.913503	0.52439	.	.	ENSG00000182670	ENST00000418766;ENST00000450533;ENST00000438055;ENST00000355666;ENST00000399010;ENST00000399017;ENST00000354749	T;T;T;T;T;T	0.52754	2.48;0.65;2.48;2.79;2.79;2.79	4.82	4.82	0.62117	.	0.113111	0.38720	N	0.001582	T	0.39860	0.1094	L	0.47716	1.5	0.80722	D	1	P	0.38745	0.645	B	0.34093	0.175	T	0.31364	-0.9946	10	0.33141	T	0.24	-23.7002	15.1809	0.72956	0.0:0.0:1.0:0.0	.	83	P53804	TTC3_HUMAN	N	83	ENSP00000403943:D83N;ENSP00000408456:D83N;ENSP00000391891:D83N;ENSP00000347889:D83N;ENSP00000381981:D83N;ENSP00000346791:D83N	ENSP00000346791:D83N	D	+	1	0	TTC3	37382425	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	3.750000	0.55157	2.359000	0.80004	0.557000	0.71058	GAT		0.348	TTC3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194776.1			26	49	0	0	0	1	0	26	49					A	38460555	G	A	38460555	3	1	305	1	0	0	0	0	1	0	0	0	16694	1058	37	2	257	2	TTC3	21	38460555	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	850952	38460555	9669340	1083	15600											
KCNJ6	3763	broad.mit.edu	37	chr21	39087429	39087429	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catggagtcgccctccaggaCgttagctggtggtttggaga	7	10	15	9	2	0	1	0	0	0	1	2	4	1	3	2	5	1	3	2	5	1	2			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr21:39087429C>T	ENST00000609713.1	-	3	620	c.31G>A	c.(31-33)Gtc>Atc	p.V11I	KCNJ6_ENST00000288309.6_Missense_Mutation_p.V11I|KCNJ6-IT1_ENST00000435001.1_RNA	NM_002240.3	NP_002231.1	P48051	KCNJ6_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 6	11					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	G-protein activated inward rectifier potassium channel activity (GO:0015467)|inward rectifier potassium channel activity (GO:0005242)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	22					Halothane(DB01159)	CCCTCCAGGACGTTAGCTGGT	0.517																																					Pancreas(48;379 1118 2936 19024 28214)	ENST00000400482.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	22						c.(31-33)Gtc>Atc		potassium inwardly-rectifying channel, subfamily J, member 6	Halothane(DB01159)						43	39	41					21																	39087429		1991	4170	6161	SO:0001583	missense	3763				synaptic transmission	Golgi apparatus|voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding	g.chr21:39087429C>T	U24660	CCDS42927.1	21q22.1	2011-07-05			ENSG00000157542	ENSG00000157542		"Potassium channels", "Voltage-gated ion channels / Potassium channels, Inwardly rectifying"	6267	protein-coding gene	gene with protein product		600877		KCNJ7		7796919, 16382105	Standard	NM_002240		Approved	Kir3.2, GIRK2, KATP2, BIR1, hiGIRK2	uc002ywo.3	P48051	OTTHUMG00000086667	ENST00000609713.1:c.31G>A	21.37:g.39087429C>T	ENSP00000477437:p.Val11Ile					KCNJ6_ENST00000288309.6_Missense_Mutation_p.V11I	p.V11I	NM_002240.3	NP_002231.1	P48051	IRK6_HUMAN			3	620	-			11					Q3MJ74|Q53WW6	Missense_Mutation	SNP	ENST00000609713.1	37	c.31G>A	CCDS42927.1	.	.	.	.	.	.	.	.	.	.	C	13.27	2.188125	0.38609	.	.	ENSG00000157542	ENST00000400482;ENST00000288309	D;D	0.87966	-2.32;-2.32	5.8	5.8	0.92144	.	0.572880	0.13979	U	0.349588	T	0.73016	0.3533	N	0.03608	-0.345	0.36537	D	0.871044	B	0.29115	0.233	B	0.17098	0.017	T	0.75445	-0.3315	10	0.62326	D	0.03	.	13.2885	0.60258	0.0:0.928:0.0:0.072	.	11	P48051	IRK6_HUMAN	I	11	ENSP00000383330:V11I;ENSP00000288309:V11I	ENSP00000288309:V11I	V	-	1	0	KCNJ6	38009299	0.995000	0.38212	0.997000	0.53966	0.997000	0.91878	3.145000	0.50623	2.744000	0.94065	0.655000	0.94253	GTC		0.517	KCNJ6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194828.2	NM_002240		8	29	0	0	0	1	0	8	29					T	39087429	C	T	39087429	3	4	305	1	0	0	0	0	1	0	0	0	8055	536	19	1	1248	1	KCNJ6	21	39087429	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	626874	39087429	9042466	1084	15601											
ETS2	2114	broad.mit.edu	37	chr21	40193595	40193595	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcatcagctggactggagaCggatgggagtttaagctcgc	9	10	14	8	2	2	1	2	0	0	1	3	5	2	4	0	4	2	3	0	4	1	3			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr21:40193595C>T	ENST00000360214.3	+	10	1621	c.1161C>T	c.(1159-1161)gaC>gaT	p.D387D	ETS2_ENST00000360938.3_Silent_p.D387D	NM_001256295.1	NP_001243224.1	P15036	ETS2_HUMAN	v-ets avian erythroblastosis virus E26 oncogene homolog 2	387					cell differentiation (GO:0030154)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|skeletal system development (GO:0001501)|transcription from RNA polymerase II promoter (GO:0006366)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(2)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	18		Prostate(19;6.33e-08)|all_epithelial(19;0.123)				GGACTGGAGACGGATGGGAGT	0.532																																						ENST00000360214.3																			0				NS(1)|breast(2)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	18						c.(1159-1161)gaC>gaT		v-ets avian erythroblastosis virus E26 oncogene homolog 2							114	110	111					21																	40193595		2203	4300	6503	SO:0001819	synonymous_variant	2114				positive regulation of transcription, DNA-dependent|skeletal system development	nucleus	protein binding|sequence-specific DNA binding transcription factor activity	g.chr21:40193595C>T		CCDS13659.1	21q22.3	2013-07-09	2013-07-09		ENSG00000157557	ENSG00000157557			3489	protein-coding gene	gene with protein product		164740	"v-ets erythroblastosis virus E26 oncogene homolog 2 (avian)"			17986575	Standard	NM_001256295		Approved		uc002yxf.3	P15036	OTTHUMG00000090769	ENST00000360214.3:c.1161C>T	21.37:g.40193595C>T						ETS2_ENST00000360938.3_Silent_p.D387D	p.D387D	NM_001256295.1	NP_001243224.1	P15036	ETS2_HUMAN			10	1621	+		Prostate(19;6.33e-08)|all_epithelial(19;0.123)	387					A6NM68|D3DSH6|Q53Y89	Silent	SNP	ENST00000360214.3	37	c.1161C>T	CCDS13659.1																																																																																				0.532	ETS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207544.1			40	90	0	0	0	1	0	40	90					T	40193595	C	T	40193595	2	4	305	1	0	0	0	0	0	0	0	1	5276	535	19	1		1	ETS2	21	40193595	Silent	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	1106166	40193595	7936300	1085	15602											
BRWD1	54014	broad.mit.edu	37	chr21	40571323	40571324	+	Frame_Shift_Ins	INS	-	-	T																															cttcagaattatgtaataacINSttttttctagctacagcaga																										TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr21:40571323_40571324insT	ENST00000333229.2	-	40	5345_5346	c.5018_5019insA	c.(5017-5019)aagfs	p.K1673fs	BRWD1_ENST00000380800.3_Frame_Shift_Ins_p.K1673fs|BRWD1_ENST00000342449.3_Frame_Shift_Ins_p.K1673fs	NM_018963.4	NP_061836.2	Q9NSI6	BRWD1_HUMAN	bromodomain and WD repeat domain containing 1	1673					cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2)	58		Prostate(19;8.44e-08)|all_epithelial(19;0.223)				TATGTAATAACTTTTTTCTAGC	0.381																																					Melanoma(170;988 1986 4794 16843 39731)	ENST00000342449.3																			0				cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2)	58						c.(5017-5019)attfs		bromodomain and WD repeat domain containing 1																																				SO:0001589	frameshift_variant	54014				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus		g.chr21:40571323_40571324insT	AJ002572	CCDS13662.1, CCDS13663.1, CCDS33557.1	21q22.2	2013-05-21	2005-05-13	2005-05-13	ENSG00000185658	ENSG00000185658		"WD repeat domain containing"	12760	protein-coding gene	gene with protein product			"chromosome 21 open reading frame 107", "WD repeat domain 9"	C21orf107, WDR9			Standard	NM_033656		Approved	FLJ11315, N143	uc002yxk.2	Q9NSI6	OTTHUMG00000066030	ENST00000333229.2:c.5019dupA	21.37:g.40571329_40571329dupT	ENSP00000330753:p.Lys1673fs					BRWD1_ENST00000333229.2_Frame_Shift_Ins_p.I1673fs|BRWD1_ENST00000380800.3_Frame_Shift_Ins_p.I1673fs	p.I1673fs	NM_033656.3	NP_387505.1	Q9NSI6	BRWD1_HUMAN			40	5096_5097	-		Prostate(19;8.44e-08)|all_epithelial(19;0.223)	1673					C9JK25|O43721|Q5R2V0|Q5R2V1|Q6P2D1|Q8TCV3|Q96QG9|Q96QH0|Q9NUK1	Frame_Shift_Ins	INS	ENST00000333229.2	37	c.5018_5019insA	CCDS13662.1																																																																																				0.381	BRWD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000141398.3	NM_033656		7	72						7	72	---	---	---	---	T	40571324	-	T	40571323	7	5	305	1	0	1	1	0	0	0	0	0	1525	564	20	0	2194	0	BRWD1	21	40571323	Frame_Shift_Ins	INS	-	TCGA-KK-A59V-01A-11D-A29Q-08	377728	40571323	7558572	1086	15603											
UMODL1	89766	broad.mit.edu	37	chr21	43504322	43504322	+	Frame_Shift_Del	DEL	G	G	-																															agaagtgctgcccctggtcaGgggggcgctactgcatggcc																										TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr21:43504322delG	ENST00000408910.2	+	3	448	c.448delG	c.(448-450)gggfs	p.G151fs	UMODL1_ENST00000400424.2_Frame_Shift_Del_p.G79fs|UMODL1_ENST00000400427.1_Frame_Shift_Del_p.G79fs|UMODL1_ENST00000408989.2_Frame_Shift_Del_p.G151fs	NM_001004416.2	NP_001004416	Q5DID0	UROL1_HUMAN	uromodulin-like 1	151	WAP. {ECO:0000255|PROSITE- ProRule:PRU00722}.				adipose tissue development (GO:0060612)|cellular response to gonadotropin-releasing hormone (GO:0097211)|multicellular organismal reproductive process (GO:0048609)|regulation of apoptotic process (GO:0042981)|regulation of gene expression (GO:0010468)|regulation of ovarian follicle development (GO:2000354)|single fertilization (GO:0007338)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|peptidase inhibitor activity (GO:0030414)			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(22)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	47						CCCCTGGTCAGGGGGGCGCTA	0.652																																					Pancreas(122;680 807 13940 14411 22888 25505 31742 36028 36332 38435)	ENST00000400427.1																			0				breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(22)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	47						c.(232-234)ggfs		uromodulin-like 1							60	63	62					21																	43504322		1913	4132	6045	SO:0001589	frameshift_variant	89766					cytoplasm|extracellular region|integral to membrane|plasma membrane	calcium ion binding|peptidase inhibitor activity	g.chr21:43504322delG		CCDS42935.1, CCDS42936.1, CCDS56214.1, CCDS56215.1	21q22.3	2008-07-04			ENSG00000177398	ENSG00000177398			12560	protein-coding gene	gene with protein product	"olfactorin"	613859				16026467	Standard	NM_173568		Approved		uc002zag.1	Q5DID0	OTTHUMG00000086788	ENST00000408910.2:c.448delG	21.37:g.43504322delG	ENSP00000386147:p.Gly151fs					UMODL1_ENST00000408989.2_Frame_Shift_Del_p.G151fs|UMODL1_ENST00000408910.2_Frame_Shift_Del_p.G151fs|UMODL1_ENST00000400424.1_Frame_Shift_Del_p.G79fs	p.G79fs	NM_001199527.1	NP_001186456.1	Q5DID0	UROL1_HUMAN			3	628	+			151			EMI.		C9JCE6|Q5DIC9|Q6LA40|Q6LA41|Q8N216	Frame_Shift_Del	DEL	ENST00000408910.2	37	c.232delG	CCDS42936.1																																																																																				0.652	UMODL1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195292.2			32	123						32	123	---	---	---	---	-	43504322	G	-	43504322	7	5	305	1	0	1	0	1	0	0	0	0	16977	1000	35	0	458	0	UMODL1	21	43504322	Frame_Shift_Del	DEL	G	TCGA-KK-A59V-01A-11D-A29Q-08	2932999	43504322	4625573	1087	15604											
ABCG1	9619	broad.mit.edu	37	chr21	43693446	43693446	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aagggggccgtcctcatcaaCggcctgccccgggacctgcg	6	5	14	16	4	2	0	2	0	0	0	3	1	3	1	6	4	3	0	6	4	2	0			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr21:43693446C>T	ENST00000361802.2	+	4	583	c.438C>T	c.(436-438)aaC>aaT	p.N146N	ABCG1_ENST00000347800.2_Silent_p.N143N|ABCG1_ENST00000343687.3_Silent_p.N157N|ABCG1_ENST00000340588.4_Silent_p.N254N|ABCG1_ENST00000462050.1_3'UTR|ABCG1_ENST00000398457.2_Silent_p.N148N|ABCG1_ENST00000398437.1_Silent_p.N292N|ABCG1_ENST00000398449.3_Silent_p.N146N	NM_004915.3	NP_004906.3	P45844	ABCG1_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 1	146	ABC transporter. {ECO:0000255|PROSITE- ProRule:PRU00434}.				amyloid precursor protein catabolic process (GO:0042987)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|detection of hormone stimulus (GO:0009720)|glycoprotein transport (GO:0034436)|high-density lipoprotein particle remodeling (GO:0034375)|intracellular cholesterol transport (GO:0032367)|lipoprotein metabolic process (GO:0042157)|low-density lipoprotein particle remodeling (GO:0034374)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|phospholipid efflux (GO:0033700)|phospholipid homeostasis (GO:0055091)|positive regulation of cholesterol biosynthetic process (GO:0045542)|positive regulation of cholesterol efflux (GO:0010875)|regulation of cholesterol esterification (GO:0010872)|regulation of transcription, DNA-templated (GO:0006355)|response to high density lipoprotein particle (GO:0055099)|response to lipid (GO:0033993)|response to organic substance (GO:0010033)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)|toxin transport (GO:1901998)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|cholesterol binding (GO:0015485)|cholesterol transporter activity (GO:0017127)|glycoprotein transporter activity (GO:0034437)|phospholipid binding (GO:0005543)|phospholipid transporter activity (GO:0005548)|protein dimerization activity (GO:0046983)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|sterol-transporting ATPase activity (GO:0034041)|toxin transporter activity (GO:0019534)			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|ovary(3)|prostate(2)|stomach(1)	29					Adenosine triphosphate(DB00171)	TCCTCATCAACGGCCTGCCCC	0.652																																						ENST00000398437.1																			0				breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|ovary(3)|prostate(2)|stomach(1)	29						c.(874-876)aaC>aaT		ATP-binding cassette, sub-family G (WHITE), member 1	Adenosine triphosphate(DB00171)						64	68	67					21																	43693446		2203	4300	6503	SO:0001819	synonymous_variant	9619				amyloid precursor protein catabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|detection of hormone stimulus|high-density lipoprotein particle remodeling|intracellular cholesterol transport|lipoprotein metabolic process|low-density lipoprotein particle remodeling|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|positive regulation of cholesterol biosynthetic process|regulation of cholesterol esterification|regulation of transcription, DNA-dependent|response to lipid|reverse cholesterol transport	endoplasmic reticulum membrane|external side of plasma membrane|Golgi membrane|recycling endosome	ADP binding|ATP binding|cholesterol transporter activity|glycoprotein transporter activity|phospholipid transporter activity|protein heterodimerization activity|protein homodimerization activity|sterol-transporting ATPase activity|toxin transporter activity	g.chr21:43693446C>T	U34919	CCDS13681.1, CCDS13682.1, CCDS13683.1, CCDS42937.1, CCDS42938.1	21q22.3	2012-03-14			ENSG00000160179	ENSG00000160179		"ATP binding cassette transporters / subfamily G"	73	protein-coding gene	gene with protein product	"ATP-binding cassette transporter 8"	603076				8659545, 16870176	Standard	NM_016818		Approved	ABC8	uc002zaq.3	P45844	OTTHUMG00000086791	ENST00000361802.2:c.438C>T	21.37:g.43693446C>T						ABCG1_ENST00000347800.2_Silent_p.N143N|ABCG1_ENST00000343687.3_Silent_p.N157N|ABCG1_ENST00000398449.3_Silent_p.N146N|ABCG1_ENST00000340588.4_Silent_p.N254N|ABCG1_ENST00000361802.2_Silent_p.N146N|ABCG1_ENST00000462050.1_3'UTR|ABCG1_ENST00000398457.2_Silent_p.N148N	p.N292N			P45844	ABCG1_HUMAN			5	1024	+			146			ABC transporter.		Q86SU8|Q96L76|Q9BXK6|Q9BXK7|Q9BXK8|Q9BXK9|Q9BXL0|Q9BXL1|Q9BXL2|Q9BXL3|Q9BXL4	Silent	SNP	ENST00000361802.2	37	c.876C>T	CCDS13682.1																																																																																				0.652	ABCG1-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000195318.2	NM_207174		6	129	0	0	0	1	0	6	129					T	43693446	C	T	43693446	2	4	305	1	0	0	0	0	0	0	0	1	68	535	19	1		1	ABCG1	21	43693446	Silent	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	189124	43693446	4436449	1088	15605											
TRPM2	7226	broad.mit.edu	37	chr21	45786686	45786686	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcgtgatctaccacctcaTgacccagcactgggggctgg	8	7	12	14	1	2	2	1	2	1	0	2	2	2	2	3	3	3	2	3	3	1	1			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr21:45786686T>C	ENST00000397928.1	+	4	918	c.473T>C	c.(472-474)aTg>aCg	p.M158T	TRPM2_ENST00000397932.2_Missense_Mutation_p.M158T|TRPM2_ENST00000300482.5_Missense_Mutation_p.M158T|TRPM2_ENST00000300481.9_Missense_Mutation_p.M158T	NM_003307.3	NP_003298	O94759	TRPM2_HUMAN	transient receptor potential cation channel, subfamily M, member 2	158					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|response to hydroperoxide (GO:0033194)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ADP-ribose diphosphatase activity (GO:0047631)|calcium channel activity (GO:0005262)|manganese ion transmembrane transporter activity (GO:0005384)|sodium channel activity (GO:0005272)			breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						TACCACCTCATGACCCAGCAC	0.607																																						ENST00000397928.1																			0				breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						c.(472-474)aTg>aCg		transient receptor potential cation channel, subfamily M, member 2							71	64	67					21																	45786686		2203	4300	6503	SO:0001583	missense	7226					integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity	g.chr21:45786686T>C	AB001535	CCDS13710.1	21q22.3	2011-12-14		2002-01-18	ENSG00000142185	ENSG00000142185		"Voltage-gated ion channels / Transient receptor potential cation channels", "Nudix motif containing"	12339	protein-coding gene	gene with protein product		603749		TRPC7		9806837, 11385575, 16382100	Standard	NR_038257		Approved	KNP3, LTRPC2, NUDT9L1, NUDT9H, EREG1	uc002zew.1	O94759	OTTHUMG00000040840	ENST00000397928.1:c.473T>C	21.37:g.45786686T>C	ENSP00000381023:p.Met158Thr					TRPM2_ENST00000300481.9_Missense_Mutation_p.M158T|TRPM2_ENST00000300482.5_Missense_Mutation_p.M158T|TRPM2_ENST00000397932.2_Missense_Mutation_p.M158T	p.M158T	NM_003307.3	NP_003298.1	O94759	TRPM2_HUMAN			4	918	+			158					D3DSL6|Q5KTC2|Q6J3P5|Q96KN6|Q96Q93	Missense_Mutation	SNP	ENST00000397928.1	37	c.473T>C	CCDS13710.1	.	.	.	.	.	.	.	.	.	.	T	14.63	2.592623	0.46214	.	.	ENSG00000142185	ENST00000300482;ENST00000397928;ENST00000300481;ENST00000397932	T;T;T;T	0.03635	3.86;3.86;3.86;3.86	4.12	4.12	0.48240	.	0.122583	0.52532	U	0.000074	T	0.09905	0.0243	M	0.88031	2.925	0.51767	D	0.99993	P;P	0.41041	0.736;0.736	B;B	0.38985	0.287;0.159	T	0.03268	-1.1054	10	0.87932	D	0	-30.6555	13.3937	0.60838	0.0:0.0:0.0:1.0	.	158;158	E9PGK7;O94759	.;TRPM2_HUMAN	T	158	ENSP00000300482:M158T;ENSP00000381023:M158T;ENSP00000300481:M158T;ENSP00000381026:M158T	ENSP00000300481:M158T	M	+	2	0	TRPM2	44611114	1.000000	0.71417	0.997000	0.53966	0.539000	0.34962	7.347000	0.79356	1.621000	0.50320	0.247000	0.18012	ATG		0.607	TRPM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098086.1	NM_003307		4	92	0	0	0	1	0	4	92					C	45786686	T	C	45786686	3	2	305	1	0	0	0	0	1	0	0	0	16583	1464	51	4	487	4	TRPM2	21	45786686	Missense_Mutation	SNP	T	TCGA-KK-A59V-01A-11D-A29Q-08	2093240	45786686	2343209	1089	15606											
TRPM2	7226	broad.mit.edu	37	chr21	45802622	45802622	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccaagatatcgtccggaggCggcagctgctgactgtcttc	7	10	12	12	3	1	2	0	1	1	1	5	3	3	3	2	3	2	3	2	3	2	2	rs146431153	byFrequency	TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr21:45802622C>T	ENST00000397928.1	+	9	1682	c.1237C>T	c.(1237-1239)Cgg>Tgg	p.R413W	TRPM2_ENST00000397932.2_Missense_Mutation_p.R413W|TRPM2_ENST00000300482.5_Missense_Mutation_p.R413W|TRPM2_ENST00000498430.1_3'UTR|TRPM2_ENST00000300481.9_Missense_Mutation_p.R413W	NM_003307.3	NP_003298	O94759	TRPM2_HUMAN	transient receptor potential cation channel, subfamily M, member 2	413					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|response to hydroperoxide (GO:0033194)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ADP-ribose diphosphatase activity (GO:0047631)|calcium channel activity (GO:0005262)|manganese ion transmembrane transporter activity (GO:0005384)|sodium channel activity (GO:0005272)			breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						CGTCCGGAGGCGGCAGCTGCT	0.552													C|||	3	0.000599042	0.0015	0	5008	,	,		21458	0.001		0	False		,,,				2504	0					ENST00000397928.1																			0				breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						c.(1237-1239)Cgg>Tgg		transient receptor potential cation channel, subfamily M, member 2		C	TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	66	50	56		1237	3.2	1	21	dbSNP_134	56	0,8600		0,0,4300	yes	missense	TRPM2	NM_003307.3	101	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	413/1504	45802622	1,13005	2203	4300	6503	SO:0001583	missense	7226					integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity	g.chr21:45802622C>T	AB001535	CCDS13710.1	21q22.3	2011-12-14		2002-01-18	ENSG00000142185	ENSG00000142185		"Voltage-gated ion channels / Transient receptor potential cation channels", "Nudix motif containing"	12339	protein-coding gene	gene with protein product		603749		TRPC7		9806837, 11385575, 16382100	Standard	NR_038257		Approved	KNP3, LTRPC2, NUDT9L1, NUDT9H, EREG1	uc002zew.1	O94759	OTTHUMG00000040840	ENST00000397928.1:c.1237C>T	21.37:g.45802622C>T	ENSP00000381023:p.Arg413Trp					TRPM2_ENST00000498430.1_3'UTR|TRPM2_ENST00000300481.9_Missense_Mutation_p.R413W|TRPM2_ENST00000300482.5_Missense_Mutation_p.R413W|TRPM2_ENST00000397932.2_Missense_Mutation_p.R413W	p.R413W	NM_003307.3	NP_003298.1	O94759	TRPM2_HUMAN			9	1682	+			413					D3DSL6|Q5KTC2|Q6J3P5|Q96KN6|Q96Q93	Missense_Mutation	SNP	ENST00000397928.1	37	c.1237C>T	CCDS13710.1	2	9.157509157509158E-4	1	0.0020325203252032522	0	0.0	1	0.0017482517482517483	0	0.0	C	16.65	3.183394	0.57800	2.27E-4	0.0	ENSG00000142185	ENST00000300482;ENST00000397928;ENST00000300481;ENST00000397932	T;T;T;T	0.35973	1.28;1.28;1.28;1.28	4.14	3.15	0.36227	.	0.214318	0.39146	N	0.001454	T	0.52741	0.1753	M	0.81942	2.565	0.38585	D	0.950288	D;D	0.76494	0.999;0.999	P;P	0.56216	0.794;0.719	T	0.62120	-0.6921	10	0.87932	D	0	-39.5805	11.0196	0.47709	0.3866:0.6134:0.0:0.0	.	413;413	E9PGK7;O94759	.;TRPM2_HUMAN	W	413	ENSP00000300482:R413W;ENSP00000381023:R413W;ENSP00000300481:R413W;ENSP00000381026:R413W	ENSP00000300481:R413W	R	+	1	2	TRPM2	44627050	0.978000	0.34361	1.000000	0.80357	0.986000	0.74619	0.125000	0.15749	0.786000	0.33708	0.484000	0.47621	CGG		0.552	TRPM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098086.1	NM_003307		13	20	0	0	0	1	0	13	20					T	45802622	C	T	45802622	3	4	305	1	0	0	0	0	1	0	0	0	16583	759	27	1	1271	1	TRPM2	21	45802622	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	15936	45802622	2327273	1090	15607											
KRTAP10-10	353333	broad.mit.edu	37	chr21	46057597	46057597	+	Frame_Shift_Del	DEL	C	C	-																															gccggattgctgcacctcctCcccctgccagcaggcctgct																										TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr21:46057597delC	ENST00000380095.1	+	1	325	c.263delC	c.(262-264)tccfs	p.S88fs	TSPEAR_ENST00000323084.4_Intron	NM_181688.1	NP_859016.1	P60014	KR10A_HUMAN	keratin associated protein 10-10	88	15 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)				NS(1)|endometrium(2)|kidney(1)|lung(6)|prostate(1)|skin(2)	13						TGCACCTCCTCCCcctgccag	0.642																																						ENST00000380095.1																			0				NS(1)|endometrium(2)|kidney(1)|lung(6)|prostate(1)|skin(2)	13						c.(262-264)tcfs		keratin associated protein 10-10							123	117	119					21																	46057597		2203	4300	6503	SO:0001589	frameshift_variant	353333					keratin filament		g.chr21:46057597delC	AJ566387	CCDS33585.1	21q22.3	2006-03-13			ENSG00000221859	ENSG00000221859		"Keratin associated proteins"	22972	protein-coding gene	gene with protein product							Standard	NM_181688		Approved	KAP10.10, KAP18.10, KRTAP18-10	uc002zfq.3	P60014	OTTHUMG00000057631	ENST00000380095.1:c.263delC	21.37:g.46057597delC	ENSP00000369438:p.Ser88fs					TSPEAR_ENST00000323084.4_Intron	p.S88fs	NM_181688.1	NP_859016.1	P60014	KR10A_HUMAN			1	325	+			88			15 X 5 AA repeats of C-C-X(3).			Frame_Shift_Del	DEL	ENST00000380095.1	37	c.263delC	CCDS33585.1																																																																																				0.642	KRTAP10-10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128034.1	NM_181688		8	203						8	203	---	---	---	---	-	46057597	C	-	46057597	7	5	305	1	0	1	0	1	0	0	0	0	8506	855	30	0	265	0	KRTAP10-10	21	46057597	Frame_Shift_Del	DEL	C	TCGA-KK-A59V-01A-11D-A29Q-08	254975	46057597	2072298	1091	15608											
ITGB2	3689	broad.mit.edu	37	chr21	46323417	46323417	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgatggggtagcccttggccCgccggaaggtcacgttgaac	7	7	15	12	4	1	1	1	1	0	0	1	3	1	2	3	5	2	2	3	5	3	3	rs376053062		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr21:46323417C>T	ENST00000397850.2	-	6	814	c.362G>A	c.(361-363)cGg>cAg	p.R121Q	ITGB2_ENST00000397854.3_Intron|ITGB2_ENST00000397852.1_Missense_Mutation_p.R121Q|ITGB2_ENST00000302347.5_Missense_Mutation_p.R121Q|ITGB2_ENST00000397857.1_Missense_Mutation_p.R121Q|ITGB2_ENST00000355153.4_Missense_Mutation_p.R121Q			P05107	ITB2_HUMAN	integrin, beta 2 (complement component 3 receptor 3 and 4 subunit)	121					apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|cell-matrix adhesion (GO:0007160)|endodermal cell differentiation (GO:0035987)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|neutrophil chemotaxis (GO:0030593)|receptor clustering (GO:0043113)|regulation of cell shape (GO:0008360)|regulation of immune response (GO:0050776)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integrin alphaL-beta2 complex (GO:0034687)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|vesicle (GO:0031982)	cell adhesion molecule binding (GO:0050839)|glycoprotein binding (GO:0001948)|ICAM-3 receptor activity (GO:0030369)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)			breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(4)|skin(3)	35				Colorectal(79;0.0669)	Simvastatin(DB00641)	GCCCTTGGCCCGCCGGAAGGT	0.592																																						ENST00000397850.2																			0				breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(4)|skin(3)	35						c.(361-363)cGg>cAg		integrin, beta 2 (complement component 3 receptor 3 and 4 subunit)	Simvastatin(DB00641)						96	81	86					21																	46323417		2203	4300	6503	SO:0001583	missense	3689				apoptosis|blood coagulation|cell-cell signaling|cell-matrix adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|multicellular organismal development|neutrophil chemotaxis|regulation of cell shape|regulation of immune response|regulation of peptidyl-tyrosine phosphorylation	integrin complex	glycoprotein binding|protein kinase binding|receptor activity	g.chr21:46323417C>T	AK222505	CCDS13716.1	21q22.3	2014-09-17	2006-03-02		ENSG00000160255	ENSG00000160255		"CD molecules", "Complement system", "Integrins"	6155	protein-coding gene	gene with protein product		600065	"integrin, beta 2 (antigen CD18 (p95), lymphocyte function-associated antigen 1; macrophage antigen 1 (mac-1) beta subunit)"	CD18, MFI7			Standard	NM_000211		Approved	LFA-1, MAC-1	uc002zgf.3	P05107	OTTHUMG00000090257	ENST00000397850.2:c.362G>A	21.37:g.46323417C>T	ENSP00000380948:p.Arg121Gln					ITGB2_ENST00000302347.5_Missense_Mutation_p.R121Q|ITGB2_ENST00000397852.1_Missense_Mutation_p.R121Q|ITGB2_ENST00000397857.1_Missense_Mutation_p.R121Q|ITGB2_ENST00000397854.3_Intron|ITGB2_ENST00000355153.4_Missense_Mutation_p.R121Q	p.R121Q			P05107	ITB2_HUMAN		Colorectal(79;0.0669)	6	814	-			121					B3KTS8|D3DSM1|Q16418|Q53HS5|Q9UD72	Missense_Mutation	SNP	ENST00000397850.2	37	c.362G>A	CCDS13716.1	.	.	.	.	.	.	.	.	.	.	C	35	5.562123	0.96527	.	.	ENSG00000160255	ENST00000397852;ENST00000397857;ENST00000355153;ENST00000397850;ENST00000302347;ENST00000320216;ENST00000523663;ENST00000522931	D;D;D;D;D;D;D;D	0.92249	-3.0;-3.0;-3.0;-3.0;-3.0;-3.0;-3.0;-3.0	4.58	4.58	0.56647	Integrin beta subunit, N-terminal (2);	.	.	.	.	D	0.93321	0.7871	L	0.35723	1.085	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.92764	0.6226	9	0.40728	T	0.16	.	14.9138	0.70778	0.0:1.0:0.0:0.0	.	121	P05107	ITB2_HUMAN	Q	121;121;121;121;121;112;121;121	ENSP00000380950:R121Q;ENSP00000380955:R121Q;ENSP00000347279:R121Q;ENSP00000380948:R121Q;ENSP00000303242:R121Q;ENSP00000317697:R112Q;ENSP00000428503:R121Q;ENSP00000428979:R121Q	ENSP00000303242:R121Q	R	-	2	0	ITGB2	45147845	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	7.209000	0.77916	2.381000	0.81170	0.555000	0.69702	CGG		0.592	ITGB2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206566.2	NM_000211		21	63	0	0	0	1	0	21	63					T	46323417	C	T	46323417	3	4	305	1	0	0	0	0	1	0	0	0	7894	652	23	2	1995	2	ITGB2	21	46323417	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	265820	46323417	1806478	1092	15609											
IL17RA	23765	broad.mit.edu	37	chr22	17590304	17590304	+	Frame_Shift_Del	DEL	C	C	-																															ctcgccccttggcagcagcaCccccatggcgtctcctgacc																										TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr22:17590304delC	ENST00000319363.6	+	13	2328	c.2195delC	c.(2194-2196)accfs	p.T732fs		NM_014339.5	NP_055154.3	Q96F46	I17RA_HUMAN	interleukin 17 receptor A	732					cell surface receptor signaling pathway (GO:0007166)|cytokine-mediated signaling pathway (GO:0019221)|fibroblast activation (GO:0072537)|positive regulation of cytokine production involved in inflammatory response (GO:1900017)|positive regulation of interleukin-23 production (GO:0032747)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	interleukin-17 receptor activity (GO:0030368)			endometrium(2)|large_intestine(8)|lung(16)|ovary(1)|skin(2)|stomach(1)	30		all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132)		Colorectal(9;0.241)		GGCAGCAGCACCCCCATGGCG	0.682																																						ENST00000319363.6																			0				endometrium(2)|large_intestine(8)|lung(16)|ovary(1)|skin(2)|stomach(1)	30						c.(2194-2196)acfs		interleukin 17 receptor A							24	25	24					22																	17590304		2203	4294	6497	SO:0001589	frameshift_variant	23765				fibroblast activation|positive regulation of interleukin-23 production	integral to plasma membrane	interleukin-17 receptor activity	g.chr22:17590304delC	U58917	CCDS13739.1	22q11.1	2014-09-17	2006-04-26	2006-04-26	ENSG00000177663	ENSG00000177663		"Interleukins and interleukin receptors", "CD molecules"	5985	protein-coding gene	gene with protein product		605461	"interleukin 17 receptor"	IL17R		9367539, 10591208	Standard	NM_014339		Approved	hIL-17R, IL-17RA, CDw217, CD217	uc002zly.4	Q96F46	OTTHUMG00000150026	ENST00000319363.6:c.2195delC	22.37:g.17590304delC	ENSP00000320936:p.Thr732fs						p.T732fs	NM_014339.5	NP_055154.3	Q96F46	I17RA_HUMAN		Colorectal(9;0.241)	13	2328	+		all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132)	732					O43844|Q20WK1	Frame_Shift_Del	DEL	ENST00000319363.6	37	c.2195delC	CCDS13739.1																																																																																				0.682	IL17RA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315820.1	NM_014339		8	32						8	32	---	---	---	---	-	17590304	C	-	17590304	7	5	305	1	0	1	0	1	0	0	0	0	7639	507	18	0	2245	0	IL17RA	22	17590304	Frame_Shift_Del	DEL	C	TCGA-KK-A59V-01A-11D-A29Q-08		17590304	33714262	1093	15610											
CLTCL1	8218	broad.mit.edu	37	chr22	19197976	19197976	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtactccatgacccgtgtgcGgtctgccttgatggcagtca	6	11	12	12	2	2	2	1	2	1	0	3	2	3	2	3	2	3	2	3	2	1	2	rs539104628		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr22:19197976G>T	ENST00000263200.10	-	20	3181	c.3109C>A	c.(3109-3111)Cgc>Agc	p.R1037S	CLTCL1_ENST00000427926.1_Missense_Mutation_p.R1037S|CLTCL1_ENST00000353891.5_Missense_Mutation_p.R1037S|CLTCL1_ENST00000442042.2_5'Flank	NM_007098.3	NP_009029.3	P53675	CLH2_HUMAN	clathrin, heavy chain-like 1	1037	Heavy chain arm.|Proximal segment.				anatomical structure morphogenesis (GO:0009653)|intracellular protein transport (GO:0006886)|mitotic nuclear division (GO:0007067)|positive regulation of glucose import (GO:0046326)|receptor-mediated endocytosis (GO:0006898)|signal transduction (GO:0007165)	clathrin coat of coated pit (GO:0030132)|clathrin coat of trans-Golgi network vesicle (GO:0030130)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|coated vesicle (GO:0030135)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|spindle (GO:0005819)|trans-Golgi network (GO:0005802)	signal transducer activity (GO:0004871)|structural molecule activity (GO:0005198)			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	Colorectal(54;0.0993)					ACCCGTGTGCGGTCTGCCTTG	0.562			T	?	ALCL																																	ENST00000263200.10				Dom	yes		22	22q11.21	8218	T	"clathrin, heavy polypeptide-like 1"			L	?		ALCL		0				breast(2)|central_nervous_system(3)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						c.(3109-3111)Cgc>Agc		clathrin, heavy chain-like 1							67	68	68					22																	19197976		2092	4219	6311	SO:0001583	missense	8218				anatomical structure morphogenesis|intracellular protein transport|mitosis|positive regulation of glucose import|receptor-mediated endocytosis	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|spindle|trans-Golgi network	protein binding|signal transducer activity|structural molecule activity	g.chr22:19197976G>T		CCDS46662.1, CCDS54497.1, CCDS46662.2, CCDS54497.2	22q11.2	2008-06-10	2006-09-29		ENSG00000070371	ENSG00000070371			2093	protein-coding gene	gene with protein product		601273	"clathrin, heavy polypeptide-like 1"	CLTCL		8844170, 15133132	Standard	NM_007098		Approved	CLTD, CLH22, CHC22	uc021wle.1	P53675	OTTHUMG00000150109	ENST00000263200.10:c.3109C>A	22.37:g.19197976G>T	ENSP00000445677:p.Arg1037Ser					CLTCL1_ENST00000427926.1_Missense_Mutation_p.R1037S|CLTCL1_ENST00000353891.5_Missense_Mutation_p.R1037S	p.R1037S	NM_007098.3	NP_009029.3	P53675	CLH2_HUMAN			20	3181	-	Colorectal(54;0.0993)		1037			Heavy chain arm.|Proximal segment.		B7Z7U5|Q14017|Q15808|Q15809	Missense_Mutation	SNP	ENST00000263200.10	37	c.3109C>A	CCDS46662.1	.	.	.	.	.	.	.	.	.	.	G	8.096	0.775630	0.16051	.	.	ENSG00000070371	ENST00000353891;ENST00000263200;ENST00000427926	T;T;T	0.19394	2.15;2.15;2.15	3.71	2.69	0.31865	Tetratricopeptide-like helical (1);Armadillo-type fold (1);	0.584562	0.17648	N	0.166793	T	0.16300	0.0392	L	0.31157	0.91	0.53688	D	0.999978	B;B	0.11235	0.003;0.004	B;B	0.24006	0.02;0.05	T	0.05209	-1.0899	10	0.34782	T	0.22	-0.14	11.3479	0.49571	0.0902:0.0:0.9098:0.0	.	1037;1037	P53675-2;P53675	.;CLH2_HUMAN	S	1037	ENSP00000439662:R1037S;ENSP00000445677:R1037S;ENSP00000441158:R1037S	ENSP00000445677:R1037S	R	-	1	0	CLTCL1	17577976	1.000000	0.71417	0.010000	0.14722	0.001000	0.01503	6.897000	0.75671	0.776000	0.33473	-0.224000	0.12420	CGC		0.562	CLTCL1-001	KNOWN	non_canonical_genome_sequence_error|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316397.5	NM_007098		10	43	1	0	1.08611e-07	1	1.11921e-07	10	43					T	19197976	G	T	19197976	3	4	305	1	0	0	0	0	1	0	0	0	3567	1116	39	5	1865	5	CLTCL1	22	19197976	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	1607672	19197976	32106590	1094	15611											
MED15	51586	broad.mit.edu	37	chr22	20936976	20936976	+	Frame_Shift_Del	DEL	C	C	-																															ccccgcagtcgatgccccctCccccccagccgtccccgcag																										TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr22:20936976delC	ENST00000263205.7	+	10	1420	c.1351delC	c.(1351-1353)cccfs	p.P452fs	MED15_ENST00000425759.2_Frame_Shift_Del_p.P301fs|MED15_ENST00000292733.7_Frame_Shift_Del_p.P412fs|MED15_ENST00000406969.1_Frame_Shift_Del_p.P386fs|MED15_ENST00000382974.2_Frame_Shift_Del_p.P341fs|MED15_ENST00000478831.1_Intron|MED15_ENST00000542773.1_Intron|MED15_ENST00000541476.1_Frame_Shift_Del_p.P386fs	NM_001003891.1	NP_001003891.1	Q96RN5	MED15_HUMAN	mediator complex subunit 15	452	Poly-Pro.|Pro-rich.				gene expression (GO:0010467)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	RNA polymerase II transcription cofactor activity (GO:0001104)			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	25	all_cancers(11;2.07e-24)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)|Epithelial(17;0.209)			GATGCCCCCTCCCCCCCAGCC	0.726																																						ENST00000263205.7																			0				central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	25						c.(1351-1353)ccfs		mediator complex subunit 15							13	17	15					22																	20936976		2187	4273	6460	SO:0001589	frameshift_variant	51586				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|mediator complex	protein binding	g.chr22:20936976delC	AF056191	CCDS13781.1, CCDS33602.1, CCDS74824.1	22q11.2	2007-07-30	2007-07-30	2007-07-30	ENSG00000099917	ENSG00000099917			14248	protein-coding gene	gene with protein product		607372	"trinucleotide repeat containing 7", "PC2 (positive cofactor 2, multiprotein complex) glutamine/Q-rich-associated protein"	TNRC7, PCQAP		11024300, 11414760, 15175163	Standard	XM_005261632		Approved	TIG-1, CAG7A, Arc105	uc002zsp.3	Q96RN5	OTTHUMG00000150810	ENST00000263205.7:c.1351delC	22.37:g.20936976delC	ENSP00000263205:p.Pro452fs					MED15_ENST00000425759.2_Frame_Shift_Del_p.P301fs|MED15_ENST00000478831.1_Intron|MED15_ENST00000406969.1_Frame_Shift_Del_p.P386fs|MED15_ENST00000292733.7_Frame_Shift_Del_p.P412fs|MED15_ENST00000541476.1_Frame_Shift_Del_p.P386fs|MED15_ENST00000382974.2_Frame_Shift_Del_p.P341fs|MED15_ENST00000542773.1_Intron	p.P452fs	NM_001003891.1	NP_001003891.1	Q96RN5	MED15_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)|Epithelial(17;0.209)		10	1420	+	all_cancers(11;2.07e-24)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	452			Poly-Pro.|Pro-rich.		D3DX31|D3DX32|O15413|Q6IC31|Q8NF16|Q96CT0|Q96IH7|Q9P1T3	Frame_Shift_Del	DEL	ENST00000263205.7	37	c.1351delC	CCDS33602.1																																																																																				0.726	MED15-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000320177.2	NM_015889		16	38						16	38	---	---	---	---	-	20936976	C	-	20936976	7	5	305	1	0	1	0	1	0	0	0	0	9433	855	30	0	1389	0	MED15	22	20936976	Frame_Shift_Del	DEL	C	TCGA-KK-A59V-01A-11D-A29Q-08	1739000	20936976	30367590	1095	15612											
AIFM3	150209	broad.mit.edu	37	chr22	21330573	21330573	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcaagctggagtacagcaagCtgctgctggcaccagggagc	10	6	14	11	0	1	0	1	0	0	0	1	2	1	2	1	3	7	7	1	3	3	1			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr22:21330573C>T	ENST00000399167.2	+	10	1117	c.877C>T	c.(877-879)Ctg>Ttg	p.L293L	AIFM3_ENST00000440238.2_Silent_p.L293L|AIFM3_ENST00000465606.1_3'UTR|AIFM3_ENST00000399163.2_Silent_p.L293L|AIFM3_ENST00000405089.1_Silent_p.L299L|AIFM3_ENST00000335375.5_Silent_p.L281L|AIFM3_ENST00000333607.6_Silent_p.L293L	NM_144704.2	NP_653305.1	Q96NN9	AIFM3_HUMAN	apoptosis-inducing factor, mitochondrion-associated, 3	293					cell redox homeostasis (GO:0045454)|execution phase of apoptosis (GO:0097194)	endoplasmic reticulum (GO:0005783)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	2 iron, 2 sulfur cluster binding (GO:0051537)|flavin adenine dinucleotide binding (GO:0050660)|metal ion binding (GO:0046872)|oxidoreductase activity (GO:0016491)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	21	all_cancers(11;3.71e-26)|all_epithelial(7;1.59e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0367)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)			GTACAGCAAGCTGCTGCTGGC	0.607																																						ENST00000399167.2																			0				breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	21						c.(877-879)Ctg>Ttg		apoptosis-inducing factor, mitochondrion-associated, 3							101	85	91					22																	21330573		2203	4300	6503	SO:0001819	synonymous_variant	150209							g.chr22:21330573C>T	AK094844	CCDS13786.1, CCDS33605.1, CCDS54503.1	22q11.21	2007-05-03			ENSG00000183773	ENSG00000183773			26398	protein-coding gene	gene with protein product						15764604	Standard	NM_144704		Approved	AIFL, FLJ30473		Q96NN9	OTTHUMG00000150804	ENST00000399167.2:c.877C>T	22.37:g.21330573C>T						AIFM3_ENST00000465606.1_3'UTR|AIFM3_ENST00000440238.2_Silent_p.L293L|AIFM3_ENST00000399163.2_Silent_p.L293L|AIFM3_ENST00000333607.6_Silent_p.L293L|AIFM3_ENST00000405089.1_Silent_p.L299L|AIFM3_ENST00000335375.5_Silent_p.L281L	p.L293L	NM_144704.2	NP_653305.1			LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)		10	1117	+	all_cancers(11;3.71e-26)|all_epithelial(7;1.59e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0367)						B7WP37|D3DX37|D3DX38|Q6ZT44|Q8N1V3|Q8N5E0	Silent	SNP	ENST00000399167.2	37	c.877C>T	CCDS13786.1																																																																																				0.607	AIFM3-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000320150.1	NM_144704		10	34	0	0	0	1	0	10	34					T	21330573	C	T	21330573	2	4	305	1	0	0	0	0	0	0	0	1	428	796	28	3		3	AIFM3	22	21330573	Silent	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	393597	21330573	29973993	1096	15613											
CABIN1	23523	broad.mit.edu	37	chr22	24459593	24459593	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgtttactggctgaaggctcGcttcctggcgctgcaggtta	5	13	13	10	2	0	1	0	1	0	0	2	1	1	1	1	4	2	7	1	4	3	4			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr22:24459593G>A	ENST00000398319.2	+	14	2253	c.1868G>A	c.(1867-1869)cGc>cAc	p.R623H	CABIN1_ENST00000405822.2_Missense_Mutation_p.R573H|CABIN1_ENST00000263119.5_Missense_Mutation_p.R623H	NM_001199281.1	NP_001186210.1	Q9Y6J0	CABIN_HUMAN	calcineurin binding protein 1	623					cell surface receptor signaling pathway (GO:0007166)|chromatin modification (GO:0016568)|DNA replication-independent nucleosome assembly (GO:0006336)|negative regulation of catalytic activity (GO:0043086)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein phosphatase inhibitor activity (GO:0004864)			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						CTGAAGGCTCGCTTCCTGGCG	0.582																																						ENST00000398319.2																			0				breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						c.(1867-1869)cGc>cAc		calcineurin binding protein 1							174	147	156					22																	24459593		2203	4300	6503	SO:0001583	missense	23523				cell surface receptor linked signaling pathway|chromatin modification	nucleus	protein phosphatase inhibitor activity	g.chr22:24459593G>A	AF072441	CCDS13823.1, CCDS74830.1	22q11.23	2008-09-16			ENSG00000099991	ENSG00000099991			24187	protein-coding gene	gene with protein product		604251				9655484, 9205841	Standard	NM_001199281		Approved	KIAA0330, PPP3IN	uc002zzi.1	Q9Y6J0	OTTHUMG00000150797	ENST00000398319.2:c.1868G>A	22.37:g.24459593G>A	ENSP00000381364:p.Arg623His					CABIN1_ENST00000405822.2_Missense_Mutation_p.R573H|CABIN1_ENST00000263119.5_Missense_Mutation_p.R623H	p.R623H	NM_001199281.1	NP_001186210.1	Q9Y6J0	CABIN_HUMAN			14	2253	+			623					G5E9F3|Q6PHY0|Q9Y460	Missense_Mutation	SNP	ENST00000398319.2	37	c.1868G>A	CCDS13823.1	.	.	.	.	.	.	.	.	.	.	G	27.4	4.826412	0.90955	.	.	ENSG00000099991	ENST00000263119;ENST00000405822;ENST00000398319	T;T;T	0.37584	1.19;1.19;1.19	4.78	4.78	0.61160	Tetratricopeptide-like helical (1);	0.000000	0.85682	D	0.000000	T	0.54679	0.1873	L	0.52364	1.645	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.991	T	0.48843	-0.8999	10	0.36615	T	0.2	.	17.758	0.88455	0.0:0.0:1.0:0.0	.	573;623	G5E9F3;Q9Y6J0	.;CABIN_HUMAN	H	623;573;623	ENSP00000263119:R623H;ENSP00000384694:R573H;ENSP00000381364:R623H	ENSP00000263119:R623H	R	+	2	0	CABIN1	22789593	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.349000	0.97066	2.616000	0.88540	0.650000	0.86243	CGC		0.582	CABIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320161.2	NM_012295		43	99	0	0	0	1	0	43	99					A	24459593	G	A	24459593	3	1	305	1	0	0	0	0	1	0	0	0	2528	1087	38	1	1918	1	CABIN1	22	24459593	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	3129020	24459593	26844973	1097	15614											
CYTSA	23384	broad.mit.edu	37	chr22	24807598	24807598	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagcagctggaatgatgggCtggccttctgtgccctcctg	5	10	14	12	0	1	1	0	1	1	0	2	2	2	2	3	3	3	4	3	3	1	1			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr22:24807598C>T	ENST00000314328.9	+	15	3415	c.3130C>T	c.(3130-3132)Ctg>Ttg	p.L1044L	SPECC1L-ADORA2A_ENST00000358654.2_3'UTR|SPECC1L_ENST00000437398.1_Silent_p.L1044L|SPECC1L_ENST00000541492.1_Intron	NM_001254733.1|NM_015330.3	NP_001241662.1|NP_056145	Q69YQ0	CYTSA_HUMAN	sperm antigen with calponin homology and coiled-coil domains 1-like	1044	CH. {ECO:0000255|PROSITE- ProRule:PRU00044}.				actin cytoskeleton organization (GO:0030036)|cell cycle (GO:0007049)|cell division (GO:0051301)|cell migration (GO:0016477)|negative regulation of actin filament depolymerization (GO:0030835)|negative regulation of microtubule depolymerization (GO:0007026)	cytoplasm (GO:0005737)|filamentous actin (GO:0031941)|gap junction (GO:0005921)|microtubule organizing center (GO:0005815)				breast(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(6)|ovary(1)|prostate(1)|skin(3)|stomach(2)|urinary_tract(1)	27						GAATGATGGGCTGGCCTTCTG	0.493																																						ENST00000314328.9																			0				breast(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(6)|ovary(1)|prostate(1)|skin(3)|stomach(2)|urinary_tract(1)	27						c.(3130-3132)Ctg>Ttg		sperm antigen with calponin homology and coiled-coil domains 1-like							134	118	123					22																	24807598		2203	4300	6503	SO:0001819	synonymous_variant	23384				cell cycle|cell division			g.chr22:24807598C>T	AK025531	CCDS33619.1, CCDS58797.1	22q11.23	2012-12-20	2010-09-17	2010-09-17	ENSG00000100014	ENSG00000100014			29022	protein-coding gene	gene with protein product	"cytokinesis and spindle organization A", "cytospin A"	614140	"SPECC1-like"			9205841	Standard	NM_001254733		Approved	KIAA0376, CYTSA	uc002zzv.4	Q69YQ0	OTTHUMG00000171450	ENST00000314328.9:c.3130C>T	22.37:g.24807598C>T						KB-1896H10.1_ENST00000358654.2_3'UTR|SPECC1L_ENST00000541492.1_Intron|SPECC1L_ENST00000437398.1_Silent_p.L1044L	p.L1044L	NM_001254733.1|NM_015330.3	NP_001241662.1|NP_056145.3	Q69YQ0	CYTSA_HUMAN			15	3415	+			1044			CH.		B7Z758|F5H1H6|O15081	Silent	SNP	ENST00000314328.9	37	c.3130C>T	CCDS33619.1																																																																																				0.493	SPECC1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319986.2	NM_015330		13	114	0	0	0	1	0	13	114					T	24807598	C	T	24807598	2	4	305	1	0	0	0	0	0	0	0	1	4209	796	28	3		3	CYTSA	22	24807598	Silent	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	348005	24807598	26496968	1098	15615											
PES1	23481	broad.mit.edu	37	chr22	30977346	30977346	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacaactctcggagtccaacGcgtaggtgccctcaccggcc	8	7	10	16	4	2	0	1	0	1	0	4	1	3	1	4	3	4	1	4	3	4	2	rs537835882		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr22:30977346G>A	ENST00000405677.1	-	10	1323	c.380C>T	c.(379-381)gCg>gTg	p.A127V	PES1_ENST00000354694.7_Missense_Mutation_p.A266V|PES1_ENST00000402284.3_Missense_Mutation_p.A249V|PES1_ENST00000402281.1_Missense_Mutation_p.A127V|PES1_ENST00000335214.6_Missense_Mutation_p.A266V	NM_001282328.1	NP_001269257.1			pescadillo ribosomal biogenesis factor 1											breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	29						GGAGTCCAACGCGTAGGTGCC	0.627													G|||	1	0.000199681	0	0	5008	,	,		15721	0		0	False		,,,				2504	0.001					ENST00000402281.1																			0				breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	29						c.(379-381)gCg>gTg		pescadillo ribosomal biogenesis factor 1							66	60	62					22																	30977346		2203	4300	6503	SO:0001583	missense	23481				cell proliferation|maturation of 5.8S rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|maturation of LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|regulation of cell cycle	chromosome|nucleoplasm|PeBoW complex|preribosome, large subunit precursor	protein binding	g.chr22:30977346G>A	U78310	CCDS13880.1, CCDS58802.1, CCDS74842.1	22q12.1	2012-02-23	2012-02-23		ENSG00000100029	ENSG00000100029			8848	protein-coding gene	gene with protein product		605819	"pescadillo (zebrafish) homolog 1, containing BRCT domain", "pescadillo homolog 1, containing BRCT domain (zebrafish)"			8985183, 10591208, 17353269	Standard	NM_014303		Approved	PES	uc003aij.2	O00541	OTTHUMG00000151077	ENST00000405677.1:c.380C>T	22.37:g.30977346G>A	ENSP00000385654:p.Ala127Val					PES1_ENST00000405677.1_Missense_Mutation_p.A127V|PES1_ENST00000402284.3_Missense_Mutation_p.A249V|PES1_ENST00000335214.6_Missense_Mutation_p.A266V|PES1_ENST00000354694.6_Missense_Mutation_p.A266V	p.A127V			O00541	PESC_HUMAN			10	1371	-			266			Sufficient for nucleolar localization.			Missense_Mutation	SNP	ENST00000405677.1	37	c.380C>T		.	.	.	.	.	.	.	.	.	.	G	14.03	2.413753	0.42817	.	.	ENSG00000100029	ENST00000354694;ENST00000402281;ENST00000405677;ENST00000402284;ENST00000335214	T;T;T;T;T	0.43688	0.94;0.94;0.94;0.94;0.94	5.29	5.29	0.74685	.	0.000000	0.85682	D	0.000000	T	0.49474	0.1559	L	0.59436	1.845	0.80722	D	1	D;P;D;D	0.65815	0.988;0.66;0.995;0.988	P;B;P;P	0.50934	0.636;0.145;0.654;0.636	T	0.39143	-0.9628	10	0.23891	T	0.37	-22.8919	16.731	0.85435	0.0:0.0:1.0:0.0	.	266;249;266;266	B2RDF2;B5MCF9;O00541-2;O00541	.;.;.;PESC_HUMAN	V	266;127;127;249;266	ENSP00000346725:A266V;ENSP00000384366:A127V;ENSP00000385654:A127V;ENSP00000384252:A249V;ENSP00000334612:A266V	ENSP00000334612:A266V	A	-	2	0	PES1	29307346	1.000000	0.71417	0.098000	0.21074	0.028000	0.11728	7.535000	0.82014	2.478000	0.83669	0.561000	0.74099	GCG		0.627	PES1-002	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000321189.2	NM_014303		12	27	0	0	0	1	0	12	27					A	30977346	G	A	30977346	3	1	305	1	0	0	0	0	1	0	0	0	11733	1087	38	1	1001	1	PES1	22	30977346	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	6169748	30977346	20327220	1099	15616											
DUSP18	150290	broad.mit.edu	37	chr22	31059579	31059579	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gttgggtcggatgatgggccGgcatgacttggtccacgtgt	5	11	17	8	3	0	2	0	2	0	0	2	3	1	3	2	5	0	2	2	5	0	2			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr22:31059579G>A	ENST00000334679.3	-	2	917	c.412C>T	c.(412-414)Cgg>Tgg	p.R138W	DUSP18_ENST00000403268.1_Missense_Mutation_p.P101L|DUSP18_ENST00000404885.1_Missense_Mutation_p.R138W|DUSP18_ENST00000461301.1_Intron|DUSP18_ENST00000407308.1_Missense_Mutation_p.R138W	NM_152511.3	NP_689724.3	Q8NEJ0	DUS18_HUMAN	dual specificity phosphatase 18	138	Tyrosine-protein phosphatase.				peptidyl-tyrosine dephosphorylation (GO:0035335)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	MAP kinase tyrosine/serine/threonine phosphatase activity (GO:0017017)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			large_intestine(1)|lung(1)|prostate(1)|skin(1)	4						ATGATGGGCCGGCATGACTTG	0.582																																						ENST00000403268.1																			0				large_intestine(1)|lung(1)|prostate(1)|skin(1)	4						c.(301-303)cCg>cTg		dual specificity phosphatase 18							114	94	101					22																	31059579		2203	4300	6503	SO:0001583	missense	0					cytoplasm|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity	g.chr22:31059579G>A	AF461689	CCDS13883.1	22q12.1	2011-06-09				ENSG00000167065		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Atypical dual specificity phosphatases"	18484	protein-coding gene	gene with protein product		611446				12408986	Standard	NM_152511		Approved	DUSP20	uc003aiw.1	Q8NEJ0		ENST00000334679.3:c.412C>T	22.37:g.31059579G>A	ENSP00000333917:p.Arg138Trp					DUSP18_ENST00000334679.3_Missense_Mutation_p.R138W|DUSP18_ENST00000461301.1_Intron|DUSP18_ENST00000404885.1_Missense_Mutation_p.R138W|DUSP18_ENST00000407308.1_Missense_Mutation_p.R138W	p.P101L			Q8NEJ0	DUS18_HUMAN			3	772	-			0			Tyrosine-protein phosphatase.		B3KPA4	Missense_Mutation	SNP	ENST00000334679.3	37	c.302C>T	CCDS13883.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	23.0|23.0	4.361225|4.361225	0.82353|0.82353	.|.	.|.	ENSG00000167065|ENSG00000167065	ENST00000403268|ENST00000404885;ENST00000407308;ENST00000334679;ENST00000342474	.|T;T;T;T	.|0.78364	.|-1.17;-1.17;-1.17;-1.17	5.27|5.27	3.1|3.1	0.35709|0.35709	.|Dual specificity phosphatase, catalytic domain (1);Protein-tyrosine/Dual-specificity phosphatase (1);Dual specificity phosphatase, subgroup, catalytic domain (2);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.90947|0.90947	0.7154|0.7154	H|H	0.97635|0.97635	4.045|4.045	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.97110	.|1.0	D|D	0.90639|0.90639	0.4573|0.4573	6|10	0.42905|0.87932	T|D	0.14|0	.|.	9.4072|9.4072	0.38469|0.38469	0.0:0.1369:0.5623:0.3008|0.0:0.1369:0.5623:0.3008	.|.	.|138	.|Q8NEJ0	.|DUS18_HUMAN	L|W	101|138	.|ENSP00000385463:R138W;ENSP00000386063:R138W;ENSP00000333917:R138W;ENSP00000340795:R138W	ENSP00000384946:P101L|ENSP00000333917:R138W	P|R	-|-	2|1	0|2	DUSP18|DUSP18	29389579|29389579	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.995000|0.995000	0.86356|0.86356	5.394000|5.394000	0.66285|0.66285	0.549000|0.549000	0.28973|0.28973	0.655000|0.655000	0.94253|0.94253	CCG|CGG		0.582	DUSP18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321400.1			23	64	0	0	0	1	0	23	64					A	31059579	G	A	31059579	3	1	305	1	0	0	0	0	1	0	0	0	4817	1115	39	2	158	2	DUSP18	22	31059579	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	82233	31059579	20244987	1100	15617											
SMTN	6525	broad.mit.edu	37	chr22	31492818	31492818	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgagaccaccacgaggcacaGccagcgggcagctgatggct	10	4	14	13	2	0	2	0	2	0	1	0	4	0	2	3	3	3	4	3	3	0	0			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr22:31492818G>A	ENST00000347557.2	+	14	2179	c.1961G>A	c.(1960-1962)aGc>aAc	p.S654N	SMTN_ENST00000333137.7_Missense_Mutation_p.S654N|SMTN_ENST00000358743.1_Missense_Mutation_p.S654N|SMTN_ENST00000404574.1_Intron	NM_001207017.1|NM_006932.4	NP_001193946.1|NP_008863.3	P53814	SMTN_HUMAN	smoothelin	654					muscle organ development (GO:0007517)|smooth muscle contraction (GO:0006939)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	actin binding (GO:0003779)|structural constituent of muscle (GO:0008307)			breast(2)|endometrium(2)|large_intestine(5)|lung(9)|ovary(3)|pancreas(1)|prostate(3)	25						ACGAGGCACAGCCAGCGGGCA	0.692																																						ENST00000333137.7																			0				breast(2)|endometrium(2)|large_intestine(5)|lung(9)|ovary(3)|pancreas(1)|prostate(3)	25						c.(1960-1962)aGc>aAc		smoothelin							57	60	59					22																	31492818		2203	4300	6503	SO:0001583	missense	6525				muscle organ development|smooth muscle contraction	actin cytoskeleton|cytoplasm	actin binding|structural constituent of muscle	g.chr22:31492818G>A	AY061972	CCDS13886.1, CCDS13887.1, CCDS13888.1, CCDS74845.1, CCDS74846.1	22q12	2006-01-27			ENSG00000183963	ENSG00000183963			11126	protein-coding gene	gene with protein product		602127				9244445, 8707825	Standard	NM_006932		Approved		uc011ale.2	P53814	OTTHUMG00000151203	ENST00000347557.2:c.1961G>A	22.37:g.31492818G>A	ENSP00000328635:p.Ser654Asn					SMTN_ENST00000358743.1_Missense_Mutation_p.S654N|SMTN_ENST00000404574.1_Intron|SMTN_ENST00000347557.2_Missense_Mutation_p.S654N	p.S654N	NM_001207018.1|NM_134269.2	NP_001193947.1|NP_599031.1	P53814	SMTN_HUMAN			14	2179	+			654					O00569|O95769|O95937|Q8N4H8|Q8WWW1|Q8WWW2|Q9P1S8|Q9UIT1|Q9UIT2	Missense_Mutation	SNP	ENST00000347557.2	37	c.1961G>A	CCDS13886.1	.	.	.	.	.	.	.	.	.	.	G	16.36	3.100426	0.56183	.	.	ENSG00000183963	ENST00000358743;ENST00000347557;ENST00000333137;ENST00000329852;ENST00000404496	T;T;T	0.69175	-0.03;-0.38;-0.38	4.51	3.47	0.39725	.	0.355206	0.20821	N	0.085078	T	0.63838	0.2545	L	0.54323	1.7	0.80722	D	1	P;P;P;B;P;P	0.45348	0.565;0.745;0.856;0.282;0.605;0.604	B;B;B;B;B;B	0.42112	0.159;0.209;0.357;0.075;0.144;0.376	T	0.68435	-0.5409	10	0.72032	D	0.01	-17.7556	13.9991	0.64421	0.0:0.2892:0.7108:0.0	.	710;739;677;654;654;654	E7ETT8;B4E229;B5MC56;E7EWD0;P53814;P53814-5	.;.;.;.;SMTN_HUMAN;.	N	654;654;654;652;677	ENSP00000351593:S654N;ENSP00000328635:S654N;ENSP00000329532:S654N	ENSP00000329393:S652N	S	+	2	0	SMTN	29822818	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	3.210000	0.51129	0.999000	0.39023	0.456000	0.33151	AGC		0.692	SMTN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000321766.1	NM_134270		5	125	0	0	0	1	0	5	125					A	31492818	G	A	31492818	3	1	305	1	0	0	0	0	1	0	0	0	14814	971	34	3	2011	3	SMTN	22	31492818	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	433239	31492818	19811748	1101	15618											
DEPDC5	9681	broad.mit.edu	37	chr22	32200866	32200866	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccccgtgattctcgtctgggCgatgactataatatccctca	8	12	8	13	3	3	2	1	2	2	0	5	3	4	2	3	1	0	0	3	1	3	4			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr22:32200866C>T	ENST00000382112.3	+	16	1252	c.1182C>T	c.(1180-1182)ggC>ggT	p.G394G	DEPDC5_ENST00000382111.2_Silent_p.G394G|DEPDC5_ENST00000400246.1_Silent_p.G394G|DEPDC5_ENST00000400249.2_Silent_p.G394G|DEPDC5_ENST00000382105.2_Silent_p.G394G|DEPDC5_ENST00000400248.2_Silent_p.G394G|DEPDC5_ENST00000400242.3_Silent_p.G394G|DEPDC5_ENST00000266091.3_Silent_p.G394G|DEPDC5_ENST00000536766.1_Silent_p.G366G|DEPDC5_ENST00000535622.1_Silent_p.G394G	NM_001136029.2|NM_001242896.1	NP_001129501.1|NP_001229825.1	O75140	DEPD5_HUMAN	DEP domain containing 5	394					intracellular signal transduction (GO:0035556)	cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|perinuclear region of cytoplasm (GO:0048471)	GTPase activator activity (GO:0005096)	p.G394G(1)		breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(24)|ovary(5)|pancreas(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						CTCGTCTGGGCGATGACTATA	0.453																																						ENST00000400246.1																			1	Substitution - coding silent(1)	p.G394G(1)	central_nervous_system(1)	breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(24)|ovary(5)|pancreas(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						c.(1180-1182)ggC>ggT		DEP domain containing 5							210	197	201					22																	32200866		1911	4137	6048	SO:0001819	synonymous_variant	9681				intracellular signal transduction			g.chr22:32200866C>T	AB014545	CCDS43006.1, CCDS43007.1, CCDS46692.1, CCDS56229.1, CCDS74849.1	22q12.3	2013-04-29			ENSG00000100150	ENSG00000100150			18423	protein-coding gene	gene with protein product		614191				23542697, 23542701	Standard	NM_001242896		Approved	KIAA0645, DEP.5	uc011alu.2	O75140	OTTHUMG00000030926	ENST00000382112.3:c.1182C>T	22.37:g.32200866C>T						DEPDC5_ENST00000266091.3_Silent_p.G394G|DEPDC5_ENST00000400248.1_Silent_p.G394G|DEPDC5_ENST00000400249.2_Silent_p.G394G|DEPDC5_ENST00000382105.2_Silent_p.G394G|DEPDC5_ENST00000382111.2_Silent_p.G394G|DEPDC5_ENST00000382112.3_Silent_p.G394G|DEPDC5_ENST00000536766.1_Silent_p.G366G|DEPDC5_ENST00000535622.1_Silent_p.G394G|DEPDC5_ENST00000400242.3_Silent_p.G394G	p.G394G			O75140	DEPD5_HUMAN			17	1324	+			394					A6H8V6|A8MPX9|B4DH93|B9EGN9|Q5K3V5|Q5THY9|Q5THZ0|Q5THZ1|Q5THZ3|Q68DR1|Q6MZX3|Q6PEZ1|Q9UGV8|Q9UH13	Silent	SNP	ENST00000382112.3	37	c.1182C>T	CCDS46692.1																																																																																				0.453	DEPDC5-006	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129087.1	NM_014662		19	181	0	0	0	1	0	19	181					T	32200866	C	T	32200866	2	4	305	1	0	0	0	0	0	0	0	1	4442	755	27	1		1	DEPDC5	22	32200866	Silent	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	708048	32200866	19103700	1102	15619											
DEPDC5	9681	broad.mit.edu	37	chr22	32234677	32234677	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgttgttttcaggagggaCgaagatggtgtgcagatgac	9	12	15	5	1	2	3	1	1	1	2	2	6	2	5	0	3	1	3	0	3	1	3	rs371165640		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr22:32234677C>T	ENST00000382112.3	+	26	2404	c.2334C>T	c.(2332-2334)gaC>gaT	p.D778D	RNU6-201P_ENST00000517100.1_RNA|DEPDC5_ENST00000382111.2_Silent_p.D787D|DEPDC5_ENST00000400246.1_Silent_p.D787D|DEPDC5_ENST00000400249.2_Silent_p.D778D|DEPDC5_ENST00000382105.2_Silent_p.D709D|DEPDC5_ENST00000400248.2_Silent_p.D778D|DEPDC5_ENST00000266091.3_Silent_p.D787D|DEPDC5_ENST00000535622.1_Silent_p.D709D	NM_001136029.2|NM_001242896.1	NP_001129501.1|NP_001229825.1	O75140	DEPD5_HUMAN	DEP domain containing 5	787					intracellular signal transduction (GO:0035556)	cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|perinuclear region of cytoplasm (GO:0048471)	GTPase activator activity (GO:0005096)	p.D778D(1)|p.D709D(1)		breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(24)|ovary(5)|pancreas(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						TCAGGAGGGACGAAGATGGTG	0.483																																						ENST00000400246.1																			2	Substitution - coding silent(2)	p.D778D(1)|p.D709D(1)	lung(2)	breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(24)|ovary(5)|pancreas(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						c.(2359-2361)gaC>gaT		DEP domain containing 5		C	,,,	0,4082		0,0,2041	113	117	116		2334,2361,2127,2334	-6.7	0.3	22		116	2,8388		0,2,4193	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	DEPDC5	NM_001136029.2,NM_001242896.1,NM_001242897.1,NM_014662.3	,,,	0,2,6234	TT,TC,CC		0.0238,0.0,0.016	,,,	778/1595,787/1604,709/1504,778/1573	32234677	2,12470	2041	4195	6236	SO:0001819	synonymous_variant	9681				intracellular signal transduction			g.chr22:32234677C>T	AB014545	CCDS43006.1, CCDS43007.1, CCDS46692.1, CCDS56229.1, CCDS74849.1	22q12.3	2013-04-29			ENSG00000100150	ENSG00000100150			18423	protein-coding gene	gene with protein product		614191				23542697, 23542701	Standard	NM_001242896		Approved	KIAA0645, DEP.5	uc011alu.2	O75140	OTTHUMG00000030926	ENST00000382112.3:c.2334C>T	22.37:g.32234677C>T						DEPDC5_ENST00000266091.3_Silent_p.D787D|DEPDC5_ENST00000400248.1_Silent_p.D778D|DEPDC5_ENST00000400249.2_Silent_p.D778D|DEPDC5_ENST00000382105.2_Silent_p.D709D|DEPDC5_ENST00000382111.2_Silent_p.D787D|DEPDC5_ENST00000382112.3_Silent_p.D778D|DEPDC5_ENST00000535622.1_Silent_p.D709D	p.D787D			O75140	DEPD5_HUMAN			27	2503	+			778					A6H8V6|A8MPX9|B4DH93|B9EGN9|Q5K3V5|Q5THY9|Q5THZ0|Q5THZ1|Q5THZ3|Q68DR1|Q6MZX3|Q6PEZ1|Q9UGV8|Q9UH13	Silent	SNP	ENST00000382112.3	37	c.2361C>T	CCDS46692.1	.	.	.	.	.	.	.	.	.	.	C	0.727	-0.781441	0.02929	0.0	2.38E-4	ENSG00000100150	ENST00000433147	.	.	.	5.55	-6.73	0.01749	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.8609	0.35256	0.099:0.4339:0.0:0.4671	.	.	.	.	X	185	.	.	R	+	1	2	DEPDC5	30564677	0.001000	0.12720	0.318000	0.25279	0.101000	0.19017	-1.936000	0.01549	-1.953000	0.01026	-1.105000	0.02106	CGA		0.483	DEPDC5-006	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129087.1	NM_014662		34	81	0	0	0	1	0	34	81					T	32234677	C	T	32234677	2	4	305	1	0	0	0	0	0	0	0	1	4442	535	19	1		1	DEPDC5	22	32234677	Silent	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	33811	32234677	19069889	1103	15620											
SLC5A1	6523	broad.mit.edu	37	chr22	32500781	32500781	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttctctgcagctctaccgTctgtgttggagcctgcgcaa	5	12	10	14	2	3	0	0	0	3	0	4	1	3	1	3	1	5	4	3	1	2	3			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr22:32500781T>C	ENST00000266088.4	+	14	1924	c.1674T>C	c.(1672-1674)cgT>cgC	p.R558R	SLC5A1_ENST00000543737.1_Silent_p.R431R	NM_000343.3	NP_000334.1	P13866	SC5A1_HUMAN	solute carrier family 5 (sodium/glucose cotransporter), member 1	558					carbohydrate metabolic process (GO:0005975)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|intestinal absorption (GO:0050892)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	glucose:sodium symporter activity (GO:0005412)			NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1)	37					Canagliflozin(DB08907)	AGCTCTACCGTCTGTGTTGGA	0.502																																						ENST00000266088.4																			0				NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1)	37						c.(1672-1674)cgT>cgC		solute carrier family 5 (sodium/glucose cotransporter), member 1							85	73	77					22																	32500781		2203	4300	6503	SO:0001819	synonymous_variant	6523				carbohydrate metabolic process	integral to plasma membrane	glucose:sodium symporter activity|protein binding	g.chr22:32500781T>C		CCDS13902.1, CCDS58805.1	22q12.3	2013-05-22			ENSG00000100170	ENSG00000100170		"Solute carriers"	11036	protein-coding gene	gene with protein product	"sodium/glucose cotransporter 1"	182380		SGLT1		8195156	Standard	NM_000343		Approved	D22S675, NAGT	uc003amc.3	P13866	OTTHUMG00000030768	ENST00000266088.4:c.1674T>C	22.37:g.32500781T>C						SLC5A1_ENST00000543737.1_Silent_p.R431R	p.R558R	NM_000343.3	NP_000334.1	P13866	SC5A1_HUMAN			14	1924	+			558					B2R7E2|B7Z4Q9|B7ZA69	Silent	SNP	ENST00000266088.4	37	c.1674T>C	CCDS13902.1																																																																																				0.502	SLC5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075656.3	NM_000343		12	39	0	0	0	1	0	12	39					C	32500781	T	C	32500781	2	2	305	1	0	0	0	0	0	0	0	1	14661	1654	58	4		4	SLC5A1	22	32500781	Silent	SNP	T	TCGA-KK-A59V-01A-11D-A29Q-08	266104	32500781	18803785	1104	15621											
PVALB	5816	broad.mit.edu	37	chr22	37211239	37211239	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcactctttttcttcaggccGaccatttggaagaacttttt	8	16	7	10	1	3	1	1	0	2	1	3	3	3	2	2	2	1	1	2	2	2	6	rs377039488		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr22:37211239G>A	ENST00000216200.5	-	3	157	c.102C>T	c.(100-102)gtC>gtT	p.V34V	PVALB_ENST00000417718.2_Silent_p.V34V|PVALB_ENST00000404171.1_Silent_p.V2V|CITF22-24E5.1_ENST00000417792.1_RNA	NM_002854.2	NP_002845.1	P20472	PRVA_HUMAN	parvalbumin	34					cytosolic calcium ion homeostasis (GO:0051480)	axon (GO:0030424)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|protein complex (GO:0043234)	calcium ion binding (GO:0005509)			large_intestine(1)|lung(1)|skin(1)	3						TCTTCAGGCCGACCATTTGGA	0.527																																						ENST00000216200.5																			0				large_intestine(1)|lung(1)|skin(1)	3						c.(100-102)gtC>gtT		parvalbumin							136	110	119					22																	37211239		2203	4300	6503	SO:0001819	synonymous_variant	5816						calcium ion binding	g.chr22:37211239G>A		CCDS13933.1	22q13.1	2013-01-10			ENSG00000100362	ENSG00000100362		"EF-hand domain containing"	9704	protein-coding gene	gene with protein product		168890				1559707, 10591208	Standard	NM_002854		Approved	D22S749	uc003apx.3	P20472	OTTHUMG00000150547	ENST00000216200.5:c.102C>T	22.37:g.37211239G>A						PVALB_ENST00000404171.1_Silent_p.V2V|PVALB_ENST00000417718.2_Silent_p.V34V	p.V34V	NM_002854.2	NP_002845.1	P20472	PRVA_HUMAN			3	157	-			34					B2R4H7|P78378|Q4VB78|Q5R3Q9	Silent	SNP	ENST00000216200.5	37	c.102C>T	CCDS13933.1	.	.	.	.	.	.	.	.	.	.	G	8.361	0.833151	0.16820	.	.	ENSG00000100362	ENST00000406910	.	.	.	5.21	-10.4	0.00318	.	.	.	.	.	T	0.47637	0.1456	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.61352	-0.7080	4	.	.	.	-2.8992	9.4259	0.38578	0.3579:0.5088:0.0777:0.0556	.	.	.	.	L	33	.	.	S	-	2	0	PVALB	35541185	0.000000	0.05858	0.201000	0.23476	0.936000	0.57629	-2.127000	0.01315	-3.156000	0.00229	-0.291000	0.09656	TCG		0.527	PVALB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318857.1	NM_002854		17	46	0	0	0	1	0	17	46					A	37211239	G	A	37211239	2	1	305	1	0	0	0	0	0	0	0	1	12836	1045	37	2		2	PVALB	22	37211239	Silent	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	4710458	37211239	14093327	1105	15622											
CDC42EP1	11135	broad.mit.edu	37	chr22	37962592	37962592	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gagcacccatcgctcaccccGcagcttcctggccaagaagc	9	5	9	18	2	1	1	1	0	0	1	3	2	2	1	5	1	3	4	5	1	2	1	rs369211517		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr22:37962592G>A	ENST00000249014.4	+	2	656	c.236G>A	c.(235-237)cGc>cAc	p.R79H		NM_152243.2	NP_689449.1	Q00587	BORG5_HUMAN	CDC42 effector protein (Rho GTPase binding) 1	79					positive regulation of pseudopodium assembly (GO:0031274)|regulation of cell shape (GO:0008360)|Rho protein signal transduction (GO:0007266)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)				endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(4)|prostate(5)	15	Melanoma(58;0.0574)					CGCTCACCCCGCAGCTTCCTG	0.706													G|||	1	0.000199681	0	0	5008	,	,		14947	0		0	False		,,,				2504	0.001					ENST00000249014.4																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(4)|prostate(5)	15						c.(235-237)cGc>cAc		CDC42 effector protein (Rho GTPase binding) 1		G	HIS/ARG	0,4404		0,0,2202	28	29	28		236	4.7	1	22		28	1,8593	1.2+/-3.3	0,1,4296	no	missense	CDC42EP1	NM_152243.2	29	0,1,6498	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	79/392	37962592	1,12997	2202	4297	6499	SO:0001583	missense	11135				positive regulation of pseudopodium assembly|regulation of cell shape	actin cytoskeleton|endomembrane system|Golgi apparatus|plasma membrane	protein binding	g.chr22:37962592G>A	M88338	CCDS13949.1	22q13.1	2008-06-11			ENSG00000128283	ENSG00000128283			17014	protein-coding gene	gene with protein product	"55 kDa bone marrow stromal/endothelial cell protein", "serum constituent protein"	606084				1629197, 10430899	Standard	NM_152243		Approved	MSE55, CEP1, Borg5	uc003asz.4	Q00587	OTTHUMG00000150591	ENST00000249014.4:c.236G>A	22.37:g.37962592G>A	ENSP00000249014:p.Arg79His						p.R79H	NM_152243.2	NP_689449.1	Q00587	BORG5_HUMAN			2	656	+	Melanoma(58;0.0574)		79					A8K825|Q96GN1	Missense_Mutation	SNP	ENST00000249014.4	37	c.236G>A	CCDS13949.1	.	.	.	.	.	.	.	.	.	.	G	18.93	3.728024	0.69074	0.0	1.16E-4	ENSG00000128283	ENST00000249014	T	0.33438	1.41	4.7	4.7	0.59300	.	0.709732	0.12983	N	0.423069	T	0.43787	0.1263	L	0.38175	1.15	0.38075	D	0.936509	D	0.89917	1.0	D	0.81914	0.995	T	0.11275	-1.0594	10	0.24483	T	0.36	-20.6643	13.0073	0.58712	0.0:0.0:1.0:0.0	.	79	Q00587	BORG5_HUMAN	H	79	ENSP00000249014:R79H	ENSP00000249014:R79H	R	+	2	0	CDC42EP1	36292538	0.629000	0.27146	0.959000	0.39883	0.896000	0.52359	2.423000	0.44705	2.429000	0.82318	0.563000	0.77884	CGC		0.706	CDC42EP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318993.1	NM_152243		18	36	0	0	0	1	0	18	36					A	37962592	G	A	37962592	3	1	305	1	0	0	0	0	1	0	0	0	3075	1087	38	1	238	1	CDC42EP1	22	37962592	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	751353	37962592	13341974	1106	15623											
SH3BP1	23616	broad.mit.edu	37	chr22	38041481	38041481	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gccctgcccatcgaggcctgCgtcatgatgctgctttctga	5	11	11	14	2	2	2	1	2	1	0	3	3	2	2	3	1	4	2	3	1	0	1	rs538833807		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr22:38041481C>T	ENST00000357436.4	+	10	1201	c.888C>T	c.(886-888)tgC>tgT	p.C296C	SH3BP1_ENST00000336738.5_Silent_p.C296C|SH3BP1_ENST00000495174.1_3'UTR|Z83844.1_ENST00000456099.1_RNA|SH3BP1_ENST00000442465.2_Silent_p.C296C|SH3BP1_ENST00000599616.1_Silent_p.C232C	NM_018957.3	NP_061830.3	Q9Y3L3	3BP1_HUMAN	SH3-domain binding protein 1	296	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				signal transduction (GO:0007165)	cytoplasm (GO:0005737)	GTPase activator activity (GO:0005096)			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	Melanoma(58;0.0574)					TCGAGGCCTGCGTCATGATGC	0.637													C|||	1	0.000199681	0	0	5008	,	,		18912	0		0	False		,,,				2504	0.001					ENST00000599616.1																			0				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						c.(694-696)tgC>tgT		SH3-domain binding protein 1							84	81	82					22																	38041481		2203	4300	6503	SO:0001819	synonymous_variant	23616				signal transduction	cytoplasm	GTPase activator activity|SH3 domain binding	g.chr22:38041481C>T		CCDS13952.2	22q13.1	2011-07-04			ENSG00000100092	ENSG00000100092		"Rho GTPase activating proteins"	10824	protein-coding gene	gene with protein product						10591208, 12029088	Standard	NM_018957		Approved	ARHGAP43	uc003ati.3	Q9Y3L3	OTTHUMG00000030996	ENST00000357436.4:c.888C>T	22.37:g.38041481C>T						SH3BP1_ENST00000495174.1_3'UTR|SH3BP1_ENST00000442465.2_Silent_p.C296C|Z83844.1_ENST00000456099.1_RNA|SH3BP1_ENST00000357436.4_Silent_p.C296C|SH3BP1_ENST00000336738.5_Silent_p.C296C	p.C232C			Q9Y3L3	3BP1_HUMAN			8	696	+	Melanoma(58;0.0574)		296			BAR.		Q5R3N0|Q6IBZ2|Q6ZVL9|Q96HQ5|Q9NSQ9	Silent	SNP	ENST00000357436.4	37	c.696C>T	CCDS13952.2																																																																																				0.637	SH3BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075884.4	NM_018957		5	122	0	0	0	1	0	5	122					T	38041481	C	T	38041481	2	4	305	1	0	0	0	0	0	0	0	1	14244	776	27	1		1	SH3BP1	22	38041481	Silent	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	78889	38041481	13263085	1107	15624											
TRIOBP	11078	broad.mit.edu	37	chr22	38120299	38120299	+	Frame_Shift_Del	DEL	G	G	-																															agacaaccccagaacatcctGtgcccagcgggacaatccca																										TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr22:38120299delG	ENST00000406386.3	+	7	1991	c.1736delG	c.(1735-1737)tgtfs	p.C579fs		NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	579					actin modification (GO:0030047)|barbed-end actin filament capping (GO:0051016)|mitotic nuclear division (GO:0007067)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	actin filament binding (GO:0051015)|GTP-Rho binding (GO:0017049)|myosin II binding (GO:0045159)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					AGAACATCCTGTGCCCAGCGG	0.592																																						ENST00000406386.3																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						c.(1735-1737)ttfs		TRIO and F-actin binding protein							78	126	111					22																	38120299		1930	4160	6090	SO:0001589	frameshift_variant	11078				actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding	g.chr22:38120299delG	AB051449	CCDS33644.1, CCDS43015.1, CCDS43016.1	22q13.1	2014-06-03			ENSG00000100106	ENSG00000100106		"Pleckstrin homology (PH) domain containing"	17009	protein-coding gene	gene with protein product		609761		DFNB28		11148140, 16385457, 16385458	Standard	NM_001039141		Approved	HRIHFB2122, KIAA1662, Tara, TAP68	uc003atr.3	Q9H2D6	OTTHUMG00000150657	ENST00000406386.3:c.1736delG	22.37:g.38120299delG	ENSP00000384312:p.Cys579fs					RP1-37E16.12_ENST00000455236.1_RNA	p.C579fs	NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN			7	1991	+	Melanoma(58;0.0574)		579					B1AHD4|B1AHD7|F2Z2W0|F8W6V6|O94797|Q2PZW8|Q2Q3Z9|Q2Q400|Q5R3M6|Q96DW1|Q9BT77|Q9BTL7|Q9BY98|Q9Y3L4	Frame_Shift_Del	DEL	ENST00000406386.3	37	c.1736delG	CCDS43015.1																																																																																				0.592	TRIOBP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319439.2			7	156						7	156	---	---	---	---	-	38120299	G	-	38120299	7	5	305	1	0	1	0	1	0	0	0	0	16550	1377	48	0	1754	0	TRIOBP	22	38120299	Frame_Shift_Del	DEL	G	TCGA-KK-A59V-01A-11D-A29Q-08	78818	38120299	13184267	1108	15625											
GCAT	23464	broad.mit.edu	37	chr22	38211829	38211829	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cattgtccagtctatggctgCcaagacccagaggtgcgact	9	9	11	12	1	1	2	0	0	1	2	2	3	2	2	3	2	2	1	3	2	2	2			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr22:38211829C>T	ENST00000248924.6	+	7	1030	c.974C>T	c.(973-975)gCc>gTc	p.A325V	GCAT_ENST00000323205.6_Missense_Mutation_p.A351V	NM_014291.3	NP_055106.1	O75600	KBL_HUMAN	glycine C-acetyltransferase	325					biosynthetic process (GO:0009058)|cellular amino acid metabolic process (GO:0006520)|L-threonine catabolic process to glycine (GO:0019518)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	glycine C-acetyltransferase activity (GO:0008890)|pyridoxal phosphate binding (GO:0030170)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|skin(1)	12	Melanoma(58;0.045)				Glycine(DB00145)	TCTATGGCTGCCAAGACCCAG	0.617																																						ENST00000323205.6																			0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|skin(1)	12						c.(1051-1053)gCc>gTc		glycine C-acetyltransferase	Glycine(DB00145)|Pyridoxal Phosphate(DB00114)						87	90	89					22																	38211829		2203	4300	6503	SO:0001583	missense	23464				biosynthetic process|cellular amino acid metabolic process		glycine C-acetyltransferase activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups	g.chr22:38211829C>T	AF077740	CCDS13957.1, CCDS54527.1	22q13.1	2010-01-19	2010-01-19		ENSG00000100116	ENSG00000100116	2.3.1.29		4188	protein-coding gene	gene with protein product	"2-amino-3-ketobutyrate coenzyme A ligase"	607422	"glycine C-acetyltransferase (2-amino-3-ketobutyrate coenzyme A ligase)"				Standard	NM_014291		Approved	KBL	uc003aua.2	O75600	OTTHUMG00000150664	ENST00000248924.6:c.974C>T	22.37:g.38211829C>T	ENSP00000248924:p.Ala325Val					GCAT_ENST00000248924.6_Missense_Mutation_p.A325V	p.A351V	NM_001171690.1	NP_001165161.1	O75600	KBL_HUMAN			7	1115	+	Melanoma(58;0.045)		325					E2QC23|Q6ZWF1|Q96CA9	Missense_Mutation	SNP	ENST00000248924.6	37	c.1052C>T	CCDS13957.1	.	.	.	.	.	.	.	.	.	.	C	17.19	3.326791	0.60743	.	.	ENSG00000100116	ENST00000323205;ENST00000248924	D;D	0.91011	-2.77;-2.77	4.57	4.57	0.56435	Aminotransferase, class I/classII (1);Pyridoxal phosphate-dependent transferase, major region, subdomain 2 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.055262	0.64402	D	0.000001	D	0.90314	0.6970	M	0.76170	2.325	0.80722	D	1	B;B	0.25105	0.082;0.118	B;B	0.24701	0.055;0.018	D	0.88512	0.3090	10	0.39692	T	0.17	-19.6133	17.5439	0.87856	0.0:1.0:0.0:0.0	.	351;325	E2QC23;O75600	.;KBL_HUMAN	V	351;325	ENSP00000371110:A351V;ENSP00000248924:A325V	ENSP00000248924:A325V	A	+	2	0	GCAT	36541775	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.081000	0.76844	2.374000	0.81015	0.561000	0.74099	GCC		0.617	GCAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319506.1	NM_014291.2		37	135	0	0	0	1	0	37	135					T	38211829	C	T	38211829	3	4	305	1	0	0	0	0	1	0	0	0	6284	739	26	3	1078	3	GCAT	22	38211829	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	91530	38211829	13092737	1109	15626											
MGAT3	4248	broad.mit.edu	37	chr22	39883622	39883622	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgccgcccagcaaggcggcCgaggagctccaccgggtgga	7	3	16	15	4	0	0	0	0	0	0	1	3	1	2	5	5	3	2	5	5	1	0			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr22:39883622C>A	ENST00000341184.6	+	2	485	c.270C>A	c.(268-270)gcC>gcA	p.A90A		NM_001098270.1|NM_002409.4	NP_001091740.1|NP_002400.3	Q09327	MGAT3_HUMAN	mannosyl (beta-1,4-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase	90					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	beta-1,4-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity (GO:0003830)			endometrium(4)|kidney(1)|large_intestine(5)|lung(12)|prostate(1)|skin(1)	24	Melanoma(58;0.04)					GCAAGGCGGCCGAGGAGCTCC	0.701																																						ENST00000341184.6																			0				endometrium(4)|kidney(1)|large_intestine(5)|lung(12)|prostate(1)|skin(1)	24						c.(268-270)gcC>gcA		mannosyl (beta-1,4-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase							20	25	23					22																	39883622		2191	4280	6471	SO:0001819	synonymous_variant	4248				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	beta-1,4-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity	g.chr22:39883622C>A	D13789	CCDS13994.2	22q13.1	2013-02-25			ENSG00000128268	ENSG00000128268	2.4.1.144	"Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"	7046	protein-coding gene	gene with protein product		604621				8370666	Standard	NM_002409		Approved	GNT-III	uc010gxy.3	Q09327	OTTHUMG00000030185	ENST00000341184.6:c.270C>A	22.37:g.39883622C>A							p.A90A	NM_001098270.1|NM_002409.4	NP_001091740.1|NP_002400.3	Q09327	MGAT3_HUMAN			2	485	+	Melanoma(58;0.04)		90					A6NGD0|Q14CK5|Q6IC49|Q9UH32	Silent	SNP	ENST00000341184.6	37	c.270C>A	CCDS13994.2																																																																																				0.701	MGAT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075039.2	NM_002409		5	110	1	0	0.0215528	1	0.0217133	5	110					A	39883622	C	A	39883622	2	1	305	1	0	0	0	0	0	0	0	1	9544	639	23	5		5	MGAT3	22	39883622	Silent	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	1671793	39883622	11420944	1110	15627											
SMCR7L	54471	broad.mit.edu	37	chr22	39909961	39909961	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgtggcggctgagcctgcGtcccgcggagacggcacgcc	4	5	16	16	6	0	2	0	1	0	1	1	3	1	2	4	4	2	2	4	4	0	0			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr22:39909961G>A	ENST00000325301.2	+	6	1449	c.1025G>A	c.(1024-1026)cGt>cAt	p.R342H	MIEF1_ENST00000402881.1_Missense_Mutation_p.R342H|MIEF1_ENST00000404569.1_Missense_Mutation_p.R342H	NM_019008.4	NP_061881.2	Q9NQG6	MID51_HUMAN	mitochondrial elongation factor 1	342					mitochondrial fission (GO:0000266)|positive regulation of mitochondrial fission (GO:0090141)|positive regulation of protein targeting to membrane (GO:0090314)	integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	ADP binding (GO:0043531)|GDP binding (GO:0019003)|identical protein binding (GO:0042802)										CTGAGCCTGCGTCCCGCGGAG	0.622											OREG0026577	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000325301.2																			0				central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(1)|liver(1)|lung(6)|ovary(1)|skin(1)	16						c.(1024-1026)cGt>cAt									57	56	56					22																	39909961		2203	4300	6503	SO:0001583	missense	0					integral to membrane|mitochondrion		g.chr22:39909961G>A	AL365515	CCDS13995.1	22q13.1	2013-09-23	2013-09-23	2013-09-23	ENSG00000100335	ENSG00000100335			25979	protein-coding gene	gene with protein product		615497	"Smith-Magenis syndrome chromosome region, candidate 7-like"	SMCR7L		21508961, 21701560	Standard	NM_019008		Approved	FLJ20232, MiD51	uc003axx.3	Q9NQG6	OTTHUMG00000151105	ENST00000325301.2:c.1025G>A	22.37:g.39909961G>A	ENSP00000327124:p.Arg342His		OREG0026577	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	889	SMCR7L_ENST00000402881.1_Missense_Mutation_p.R342H|SMCR7L_ENST00000404569.1_Missense_Mutation_p.R342H	p.R342H	NM_019008.4	NP_061881.2	Q9NQG6	SMC7L_HUMAN			6	1449	+	Melanoma(58;0.04)		342					Q7L890|Q9BUI3	Missense_Mutation	SNP	ENST00000325301.2	37	c.1025G>A	CCDS13995.1	.	.	.	.	.	.	.	.	.	.	G	16.88	3.245340	0.59103	.	.	ENSG00000100335	ENST00000402881;ENST00000325301;ENST00000404569	T;T;T	0.07908	3.15;3.15;3.15	6.07	6.07	0.98685	.	0.043313	0.85682	N	0.000000	T	0.26593	0.0650	L	0.57536	1.79	0.80722	D	1	P;D	0.89917	0.593;1.0	B;D	0.91635	0.134;0.999	T	0.00819	-1.1553	10	0.16896	T	0.51	-10.7433	20.6439	0.99570	0.0:0.0:1.0:0.0	.	342;342	Q9NQG6;B0QY95	MID51_HUMAN;.	H	342	ENSP00000385110:R342H;ENSP00000327124:R342H;ENSP00000385191:R342H	ENSP00000327124:R342H	R	+	2	0	SMCR7L	38239907	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	7.887000	0.87295	2.884000	0.98904	0.655000	0.94253	CGT		0.622	MIEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321325.1	NM_019008		37	79	0	0	0	1	0	37	79					A	39909961	G	A	39909961	3	1	305	1	0	0	0	0	1	0	0	0	14791	1145	40	1	1039	1	SMCR7L	22	39909961	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	26339	39909961	11394605	1111	15628											
EP300	2033	broad.mit.edu	37	chr22	41573944	41573944	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcttagtatccttcacgccAacccccagctgttggctgca	7	11	8	15	1	1	0	1	0	0	0	2	0	2	0	4	1	4	6	4	1	3	4			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr22:41573944A>G	ENST00000263253.7	+	31	7448	c.6229A>G	c.(6229-6231)Aac>Gac	p.N2077D	RP1-85F18.6_ENST00000415054.1_RNA|RP1-85F18.5_ENST00000420537.1_RNA	NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	2077	Interaction with HTLV-1 Tax.|Interaction with NCOA2.				apoptotic process (GO:0006915)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|circadian rhythm (GO:0007623)|G2/M transition of mitotic cell cycle (GO:0000086)|heart development (GO:0007507)|histone H2B acetylation (GO:0043969)|histone H4 acetylation (GO:0043967)|innate immune response (GO:0045087)|internal peptidyl-lysine acetylation (GO:0018393)|internal protein amino acid acetylation (GO:0006475)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|lung development (GO:0030324)|mitotic cell cycle (GO:0000278)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of protein binding (GO:0032092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of cell cycle (GO:0051726)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|regulation of tubulin deacetylation (GO:0090043)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|skeletal muscle tissue development (GO:0007519)|somitogenesis (GO:0001756)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|activating transcription factor binding (GO:0033613)|androgen receptor binding (GO:0050681)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine N-acetyltransferase activity, acting on acetyl phosphate as donor (GO:0004468)|nuclear hormone receptor binding (GO:0035257)|pre-mRNA intronic binding (GO:0097157)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transferase activity, transferring acyl groups (GO:0016746)|zinc ion binding (GO:0008270)			NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						CCTTCACGCCAACCCCCAGCT	0.572			"T,  N, F, Mis, O"	"MLL, RUNXBP2"	"colorectal, breast, pancreatic, AML, ALL, DLBCL"				Rubinstein-Taybi syndrome																													ENST00000263253.7				Rec	yes		22	22q13	2033	"T,  N, F, Mis, O"	300 kd E1A-Binding protein gene			"L, E"	"MLL, RUNXBP2"		"colorectal, breast, pancreatic, AML, ALL, DLBCL"		0				NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						c.(6229-6231)Aac>Gac		E1A binding protein p300							74	75	75					22																	41573944		2203	4300	6503	SO:0001583	missense	2033	Rubinstein-Taybi syndrome	Familial Cancer Database	Broad Thumb-Hallux syndrome	apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding	g.chr22:41573944A>G	U01877	CCDS14010.1	22q13.2	2011-07-01			ENSG00000100393	ENSG00000100393		"Chromatin-modifying enzymes / K-acetyltransferases"	3373	protein-coding gene	gene with protein product	"histone acetyltransferase p300"	602700				7523245	Standard	NM_001429		Approved	p300, KAT3B	uc003azl.4	Q09472	OTTHUMG00000150937	ENST00000263253.7:c.6229A>G	22.37:g.41573944A>G	ENSP00000263253:p.Asn2077Asp					RP1-85F18.5_ENST00000420537.1_RNA|RP1-85F18.6_ENST00000415054.1_RNA	p.N2077D	NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN			31	7448	+			2077			Interaction with HTLV-1 Tax.|Interaction with NCOA2.		B1AKC2	Missense_Mutation	SNP	ENST00000263253.7	37	c.6229A>G	CCDS14010.1	.	.	.	.	.	.	.	.	.	.	A	16.00	2.999519	0.54147	.	.	ENSG00000100393	ENST00000263253	D	0.85411	-1.98	5.0	5.0	0.66597	Nuclear receptor coactivator, CREB-bp-like, interlocking (2);Nuclear receptor coactivator, interlocking (1);	0.000000	0.52532	D	0.000074	D	0.91576	0.7339	M	0.78049	2.395	0.47214	D	0.99935	D	0.69078	0.997	D	0.80764	0.994	D	0.91150	0.4952	10	0.37606	T	0.19	-8.975	14.707	0.69198	1.0:0.0:0.0:0.0	.	2077	Q09472	EP300_HUMAN	D	2077	ENSP00000263253:N2077D	ENSP00000263253:N2077D	N	+	1	0	EP300	39903890	1.000000	0.71417	1.000000	0.80357	0.806000	0.45545	9.195000	0.94971	1.883000	0.54544	0.459000	0.35465	AAC		0.572	EP300-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320600.1	NM_001429		12	137	0	0	0	1	0	12	137					G	41573944	A	G	41573944	3	3	305	1	0	0	0	0	1	0	0	0	5148	130	5	4	6351	4	EP300	22	41573944	Missense_Mutation	SNP	A	TCGA-KK-A59V-01A-11D-A29Q-08	1663983	41573944	9730622	1112	15629											
PHF5A	84844	broad.mit.edu	37	chr22	41863582	41863582	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcgcaccagagtgcagggaCgcacataggagtcacaaatc	13	5	12	11	2	1	1	1	0	0	1	2	3	1	3	1	2	2	3	1	2	2	1			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr22:41863582C>T	ENST00000216252.3	-	3	184	c.113G>A	c.(112-114)cGt>cAt	p.R38H	PHF5A_ENST00000491254.1_5'UTR|ACO2_ENST00000216254.4_5'Flank|ACO2_ENST00000396512.3_5'Flank	NM_032758.3	NP_116147.1	Q7RTV0	PHF5A_HUMAN	PHD finger protein 5A	38					gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|positive regulation of transcription, DNA-templated (GO:0045893)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|U12-type spliceosomal complex (GO:0005689)|U2 snRNP (GO:0005686)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|large_intestine(2)|lung(1)	4						AGTGCAGGGACGCACATAGGA	0.502																																					Ovarian(15;130 571 1826 2981 46141)	ENST00000216252.3																			0				central_nervous_system(1)|large_intestine(2)|lung(1)	4						c.(112-114)cGt>cAt		PHD finger protein 5A							111	96	101					22																	41863582		2203	4300	6503	SO:0001583	missense	84844				nuclear mRNA splicing, via spliceosome|positive regulation of transcription, DNA-dependent	nuclear speck|U12-type spliceosomal complex|U2 snRNP	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr22:41863582C>T	BC007321	CCDS14016.1	22q13.2	2014-02-14			ENSG00000100410	ENSG00000100410		"Zinc fingers, PHD-type"	18000	protein-coding gene	gene with protein product	"splicing factor 3b, subunit 7"					12054543, 12234937, 18076038	Standard	NM_032758		Approved	MGC1346, SF3b14b, INI, bK223H9.2, Rds3, SAP14b, SF3B7	uc003bab.3	Q7RTV0	OTTHUMG00000150966	ENST00000216252.3:c.113G>A	22.37:g.41863582C>T	ENSP00000216252:p.Arg38His					PHF5A_ENST00000491254.1_5'UTR	p.R38H	NM_032758.3	NP_116147.1	Q7RTV0	PHF5A_HUMAN			3	184	-			38					Q9UH06	Missense_Mutation	SNP	ENST00000216252.3	37	c.113G>A	CCDS14016.1	.	.	.	.	.	.	.	.	.	.	C	25.3	4.623528	0.87460	.	.	ENSG00000100410	ENST00000216252	.	.	.	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	T	0.70193	0.3196	M	0.67625	2.065	0.80722	D	1	B	0.14438	0.01	B	0.25987	0.065	T	0.67364	-0.5689	9	0.66056	D	0.02	-21.5356	19.8379	0.96666	0.0:1.0:0.0:0.0	.	38	Q7RTV0	PHF5A_HUMAN	H	38	.	ENSP00000216252:R38H	R	-	2	0	PHF5A	40193528	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.850000	0.69473	2.765000	0.95021	0.655000	0.94253	CGT		0.502	PHF5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320686.1	NM_032758		21	50	0	0	0	1	0	21	50					T	41863582	C	T	41863582	3	4	305	1	0	0	0	0	1	0	0	0	11837	536	19	1	227	1	PHF5A	22	41863582	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	289638	41863582	9440984	1113	15630											
ACO2	50	broad.mit.edu	37	chr22	41895751	41895751	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aagctctgggtgtgcggcagTaccatgtggcctcagtcctg	6	10	14	11	1	2	0	1	0	1	0	3	0	3	0	3	3	3	3	3	3	2	1			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr22:41895751T>C	ENST00000216254.4	+	2	80	c.58T>C	c.(58-60)Tac>Cac	p.Y20H	ACO2_ENST00000396512.3_Missense_Mutation_p.Y20H	NM_001098.2	NP_001089.1	Q99798	ACON_HUMAN	aconitase 2, mitochondrial	20					cell death (GO:0008219)|cellular metabolic process (GO:0044237)|citrate metabolic process (GO:0006101)|generation of precursor metabolites and energy (GO:0006091)|isocitrate metabolic process (GO:0006102)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	3 iron, 4 sulfur cluster binding (GO:0051538)|4 iron, 4 sulfur cluster binding (GO:0051539)|aconitate hydratase activity (GO:0003994)|iron ion binding (GO:0005506)			breast(3)|endometrium(5)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	23						TGTGCGGCAGTACCATGTGGC	0.527																																						ENST00000396512.3																			0				breast(3)|endometrium(5)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	23						c.(58-60)Tac>Cac		aconitase 2, mitochondrial							214	204	208					22																	41895751		2203	4300	6503	SO:0001583	missense	50				citrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix|nucleus	4 iron, 4 sulfur cluster binding|aconitate hydratase activity|citrate hydro-lyase (cis-aconitate-forming) activity|iron ion binding|isocitrate hydro-lyase (cis-aconitate-forming) activity	g.chr22:41895751T>C	AH006514	CCDS14017.1	22q13.2	2013-05-21			ENSG00000100412	ENSG00000100412	4.2.1.3		118	protein-coding gene	gene with protein product	"aconitate hydratase, mitochondrial"	100850				10591208	Standard	NM_001098		Approved	ACONM	uc003bac.3	Q99798	OTTHUMG00000030544	ENST00000216254.4:c.58T>C	22.37:g.41895751T>C	ENSP00000216254:p.Tyr20His					ACO2_ENST00000216254.4_Missense_Mutation_p.Y20H	p.Y20H			Q99798	ACON_HUMAN			2	75	+			20					O75809|Q5JZ41|Q6FHX0|Q8TAQ6	Missense_Mutation	SNP	ENST00000216254.4	37	c.58T>C	CCDS14017.1	.	.	.	.	.	.	.	.	.	.	T	19.11	3.764108	0.69878	.	.	ENSG00000100412	ENST00000544234;ENST00000216254;ENST00000396512	T;T	0.43688	0.94;0.94	5.01	5.01	0.66863	.	0.233919	0.44902	D	0.000406	T	0.41213	0.1149	L	0.38838	1.175	0.37687	D	0.923715	P;P	0.44478	0.813;0.836	P;P	0.45913	0.497;0.497	T	0.47341	-0.9125	10	0.46703	T	0.11	.	15.0306	0.71705	0.0:0.0:0.0:1.0	.	20;20	A2A274;Q99798	.;ACON_HUMAN	H	20	ENSP00000216254:Y20H;ENSP00000379769:Y20H	ENSP00000216254:Y20H	Y	+	1	0	ACO2	40225697	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.845000	0.48254	2.010000	0.58986	0.477000	0.44152	TAC		0.527	ACO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259151.1	NM_001098		9	341	0	0	0	1	0	9	341					C	41895751	T	C	41895751	3	2	305	1	0	0	0	0	1	0	0	0	147	1638	57	4	64	4	ACO2	22	41895751	Missense_Mutation	SNP	T	TCGA-KK-A59V-01A-11D-A29Q-08	32169	41895751	9408815	1114	15631											
A4GALT	53947	broad.mit.edu	37	chr22	43089741	43089741	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgttgcctggagtggggcCgtgggagggtggggtggggg	3	8	26	4	1	0	0	0	0	0	0	0	3	0	2	2	9	1	1	2	9	0	1			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr22:43089741C>T	ENST00000401850.1	-	2	706	c.217G>A	c.(217-219)Ggc>Agc	p.G73S	A4GALT_ENST00000381278.3_Missense_Mutation_p.G73S|A4GALT_ENST00000465765.2_5'Flank|A4GALT_ENST00000249005.2_Missense_Mutation_p.G73S			Q9NPC4	A4GAT_HUMAN	alpha 1,4-galactosyltransferase	73					globoside biosynthetic process (GO:0001576)|glycosphingolipid biosynthetic process (GO:0006688)|plasma membrane organization (GO:0007009)|protein glycosylation (GO:0006486)	extracellular vesicular exosome (GO:0070062)|integral component of Golgi membrane (GO:0030173)|membrane (GO:0016020)	galactosyltransferase activity (GO:0008378)|lactosylceramide 4-alpha-galactosyltransferase activity (GO:0050512)|toxic substance binding (GO:0015643)			NS(1)|central_nervous_system(2)|large_intestine(6)|skin(1)|urinary_tract(1)	11						GGAGTGGGGCCGTGGGAGGGT	0.622																																						ENST00000401850.1																			0				NS(1)|central_nervous_system(2)|large_intestine(6)|skin(1)|urinary_tract(1)	11						c.(217-219)Ggc>Agc		alpha 1,4-galactosyltransferase							25	27	26					22																	43089741		2203	4298	6501	SO:0001583	missense	53947				glycosphingolipid biosynthetic process|plasma membrane organization	Golgi stack|integral to Golgi membrane|membrane fraction	lactosylceramide 4-alpha-galactosyltransferase activity	g.chr22:43089741C>T		CCDS14041.1	22q13.2	2014-07-18	2008-07-31		ENSG00000128274	ENSG00000128274	2.4.1.228		18149	protein-coding gene	gene with protein product	"Gb3 synthase", "CD77 synthase", "globotriaosylceramide synthase", "lactosylceramide 4-alpha-galactosyltransferase"	607922	"alpha 1,4-galactosyltransferase (globotriaosylceramide synthase, P blood group)"			10854428	Standard	XM_005261643		Approved	A14GALT, Gb3S, P(k)	uc003bdb.3	Q9NPC4	OTTHUMG00000150744	ENST00000401850.1:c.217G>A	22.37:g.43089741C>T	ENSP00000384794:p.Gly73Ser					A4GALT_ENST00000249005.2_Missense_Mutation_p.G73S|A4GALT_ENST00000381278.3_Missense_Mutation_p.G73S	p.G73S			Q9NPC4	A4GAT_HUMAN			2	706	-			73					B2R7C4|Q9P1X5	Missense_Mutation	SNP	ENST00000401850.1	37	c.217G>A	CCDS14041.1	.	.	.	.	.	.	.	.	.	.	C	5.485	0.274568	0.10403	.	.	ENSG00000128274	ENST00000401850;ENST00000249005;ENST00000381278;ENST00000535654	T;T;T	0.79940	-1.32;-1.32;-1.32	5.1	-9.29	0.00653	.	1.760370	0.04260	N	0.340245	T	0.60327	0.2260	N	0.24115	0.695	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.50074	-0.8870	10	0.08837	T	0.75	-8.8342	8.4037	0.32601	0.0896:0.5354:0.2591:0.1159	.	73	Q9NPC4	A4GAT_HUMAN	S	73	ENSP00000384794:G73S;ENSP00000249005:G73S;ENSP00000370678:G73S	ENSP00000249005:G73S	G	-	1	0	A4GALT	41419685	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.799000	0.04560	-1.197000	0.02673	-0.459000	0.05422	GGC		0.622	A4GALT-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319917.1	NM_017436		14	44	0	0	0	1	0	14	44					T	43089741	C	T	43089741	3	4	305	1	0	0	0	0	1	0	0	0	6	652	23	2	848	2	A4GALT	22	43089741	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	1193990	43089741	8214825	1115	15632											
TTLL12	23170	broad.mit.edu	37	chr22	43568521	43568521	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gacctttcccacgtcttctcGaaggaacaacacgggacttt	10	10	8	13	3	2	0	0	0	2	0	4	4	3	2	2	2	2	0	2	2	3	3			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr22:43568521G>A	ENST00000216129.6	-	10	1444	c.1381C>T	c.(1381-1383)Cga>Tga	p.R461*	TTLL12_ENST00000494035.1_5'Flank|TTLL12_ENST00000484118.1_5'Flank	NM_015140.3	NP_055955.1	Q14166	TTL12_HUMAN	tubulin tyrosine ligase-like family, member 12	461	TTL. {ECO:0000255|PROSITE- ProRule:PRU00568}.				cellular protein modification process (GO:0006464)					central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)	13		Ovarian(80;0.221)|Glioma(61;0.222)				ACGTCTTCTCGAAGGAACAAC	0.587																																						ENST00000216129.6																			0				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)	13						c.(1381-1383)Cga>Tga		tubulin tyrosine ligase-like family, member 12							189	136	154					22																	43568521		2203	4300	6503	SO:0001587	stop_gained	23170				protein modification process		tubulin-tyrosine ligase activity	g.chr22:43568521G>A	D63487	CCDS14047.1	22q13.31	2013-02-14	2006-02-02		ENSG00000100304	ENSG00000100304		"Tubulin tyrosine ligase-like family"	28974	protein-coding gene	gene with protein product						15890843	Standard	NM_015140		Approved	KIAA0153	uc003bdp.3	Q14166	OTTHUMG00000150682	ENST00000216129.6:c.1381C>T	22.37:g.43568521G>A	ENSP00000216129:p.Arg461*						p.R461*	NM_015140.3	NP_055955.1	Q14166	TTL12_HUMAN			10	1444	-		Ovarian(80;0.221)|Glioma(61;0.222)	461			TTL.		Q20WK5|Q9UGU3	Nonsense_Mutation	SNP	ENST00000216129.6	37	c.1381C>T	CCDS14047.1	.	.	.	.	.	.	.	.	.	.	G	37	6.354811	0.97498	.	.	ENSG00000100304	ENST00000216129;ENST00000423379	.	.	.	5.31	4.28	0.50868	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-10.8756	15.2333	0.73407	0.0:0.0:0.8581:0.1419	.	.	.	.	X	461	.	ENSP00000216129:R461X	R	-	1	2	TTLL12	41898465	1.000000	0.71417	0.719000	0.30619	0.434000	0.31775	4.328000	0.59253	1.197000	0.43143	0.561000	0.74099	CGA		0.587	TTLL12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319611.1	NM_015140		12	67	0	0	0	1	0	12	67					A	43568521	G	A	43568521	4	1	305	1	0	0	0	0	0	1	0	0	16722	1066	37	2	573	2	TTLL12	22	43568521	Nonsense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	478780	43568521	7736045	1116	15633											
SCUBE1	80274	broad.mit.edu	37	chr22	43687179	43687179	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccattattgtcctgacactcGtccacatctgtgagaaaagg	11	11	8	11	1	1	2	0	2	1	1	4	3	3	2	3	1	0	0	3	1	3	2	rs148070276		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr22:43687179G>A	ENST00000360835.4	-	4	483	c.357C>T	c.(355-357)gaC>gaT	p.D119D	SCUBE1_ENST00000290460.7_Silent_p.D119D	NM_173050.3	NP_766638.2	Q8IWY4	SCUB1_HUMAN	signal peptide, CUB domain, EGF-like 1	119	EGF-like 3; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|endothelial cell differentiation (GO:0045446)|inflammatory response (GO:0006954)|post-embryonic development (GO:0009791)|protein homooligomerization (GO:0051260)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extrinsic component of plasma membrane (GO:0019897)	calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|protein heterodimerization activity (GO:0046982)			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(4)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		all_neural(38;0.0414)|Ovarian(80;0.07)				CCTGACACTCGTCCACATCTG	0.542																																						ENST00000360835.3																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(4)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						c.(355-357)gaC>gaT		signal peptide, CUB domain, EGF-like 1		G		0,4406		0,0,2203	88	62	71		357	-9.3	0.2	22	dbSNP_134	71	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	SCUBE1	NM_173050.3		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		119/989	43687179	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	80274				adult heart development|blood coagulation|endothelial cell differentiation|inflammatory response|post-embryonic development|protein homooligomerization	external side of plasma membrane|extracellular space|extrinsic to plasma membrane	calcium ion binding|identical protein binding|protein heterodimerization activity	g.chr22:43687179G>A		CCDS14048.1	22q13	2008-07-01			ENSG00000159307	ENSG00000159307			13441	protein-coding gene	gene with protein product		611746				11087664	Standard	NM_173050		Approved		uc003bdt.2	Q8IWY4	OTTHUMG00000150679	ENST00000360835.4:c.357C>T	22.37:g.43687179G>A						SCUBE1_ENST00000290460.7_Silent_p.D119D	p.D119D	NM_173050.3	NP_766638.2	Q8IWY4	SCUB1_HUMAN			4	483	-		all_neural(38;0.0414)|Ovarian(80;0.07)	119			EGF-like 3; calcium-binding (Potential).		Q5R336	Silent	SNP	ENST00000360835.4	37	c.357C>T	CCDS14048.1																																																																																				0.542	SCUBE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319582.3	NM_173050		4	35	0	0	0	1	0	4	35					A	43687179	G	A	43687179	2	1	305	1	0	0	0	0	0	0	0	1	13944	1136	40	1		1	SCUBE1	22	43687179	Silent	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	118658	43687179	7617387	1117	15634											
SMC1B	55007	broad.mit.edu	37	chr22	45740517	45740517	+	IGR	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aagatctagggtcaaaactcGgctgaacatgcagtcatcgt	13	9	10	9	2	3	2	2	1	1	1	5	2	3	2	0	2	3	2	0	2	5	1			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr22:45740517G>A	ENST00000216214.3	+	0	3458				SMC1B_ENST00000357450.4_Nonsense_Mutation_p.R1210*|SMC1B_ENST00000404354.3_Nonsense_Mutation_p.R1136*	NM_001104595.1	NP_001098065.1	Q9NWS6	F118A_HUMAN	family with sequence similarity 118, member A							integral component of membrane (GO:0016021)				endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|stomach(1)|upper_aerodigestive_tract(1)	11		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)		GTCAAAACTCGGCTGAACATG	0.448																																						ENST00000357450.4																			0				breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37						c.(3628-3630)Cga>Tga		structural maintenance of chromosomes 1B							120	121	121					22																	45740517		1921	4132	6053	SO:0001628	intergenic_variant	27127				chromosome organization|meiosis	chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nucleus	ATP binding	g.chr22:45740517G>A	BC013696	CCDS14065.1	22q13.3	2006-04-26	2006-04-26	2006-04-26	ENSG00000100376	ENSG00000100376			1313	protein-coding gene	gene with protein product			"chromosome 22 open reading frame 8"	C22orf8		12477932	Standard	NM_001104595		Approved	FLJ20635, bK268H5.C22.4	uc003bga.4	Q9NWS6	OTTHUMG00000151338		22.37:g.45740517G>A						SMC1B_ENST00000404354.3_Nonsense_Mutation_p.R1136*	p.R1210*	NM_148674.3	NP_683515.3	Q8NDV3	SMC1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)	25	3627	-		Ovarian(80;0.00965)|all_neural(38;0.0416)	1210					B3KWG4|B4DY02|Q5TII5|Q96CY3	Nonsense_Mutation	SNP	ENST00000216214.3	37	c.3628C>T	CCDS14065.1	.	.	.	.	.	.	.	.	.	.	G	39	7.418242	0.98272	.	.	ENSG00000077935	ENST00000357450;ENST00000404354	.	.	.	5.37	2.01	0.26516	.	0.480096	0.17742	N	0.163532	.	.	.	.	.	.	0.49213	D	0.999765	.	.	.	.	.	.	.	.	.	.	0.29301	T	0.29	.	13.1149	0.59295	0.0:0.0:0.5551:0.4449	.	.	.	.	X	1210;1136	.	ENSP00000350036:R1210X	R	-	1	2	SMC1B	44119181	0.242000	0.23868	0.374000	0.26016	0.890000	0.51754	0.485000	0.22324	0.212000	0.20703	-0.309000	0.09137	CGA		0.448	FAM118A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322260.1	NM_017911		51	104	0	0	0	1	0	51	104					A	45740517	G	A	45740517	1	1	305	0	1	0	0	0	0	0	0	0	14782	1124	39	2		2	SMC1B	22	45740517	IGR	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	2053338	45740517	5564049	1118	15635											
PPARA	5465	broad.mit.edu	37	chr22	46614283	46614283	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttcacaagtgcctttctgtcGggatgtcacacaacggtagg	9	11	11	10	2	3	0	2	0	1	0	4	1	3	1	1	3	2	1	1	3	3	3			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr22:46614283G>A	ENST00000396000.2	+	5	758	c.493G>A	c.(493-495)Ggg>Agg	p.G165R	PPARA_ENST00000407236.1_Missense_Mutation_p.G165R|PPARA_ENST00000402126.1_Missense_Mutation_p.G165R|PPARA_ENST00000434345.2_Missense_Mutation_p.G165R|PPARA_ENST00000262735.5_Missense_Mutation_p.G165R			Q07869	PPARA_HUMAN	peroxisome proliferator-activated receptor alpha	165					behavioral response to nicotine (GO:0035095)|cellular lipid metabolic process (GO:0044255)|circadian regulation of gene expression (GO:0032922)|enamel mineralization (GO:0070166)|epidermis development (GO:0008544)|fatty acid metabolic process (GO:0006631)|fatty acid transport (GO:0015908)|gene expression (GO:0010467)|heart development (GO:0007507)|intracellular receptor signaling pathway (GO:0030522)|lipid metabolic process (GO:0006629)|lipoprotein metabolic process (GO:0042157)|negative regulation of appetite (GO:0032099)|negative regulation of blood pressure (GO:0045776)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of glycolytic process (GO:0045820)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|negative regulation of neuron death (GO:1901215)|negative regulation of protein binding (GO:0032091)|negative regulation of receptor biosynthetic process (GO:0010871)|negative regulation of sequestering of triglyceride (GO:0010891)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|positive regulation of fatty acid beta-oxidation (GO:0032000)|positive regulation of fatty acid oxidation (GO:0046321)|positive regulation of gluconeogenesis (GO:0045722)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cellular ketone metabolic process by positive regulation of transcription from RNA polymerase II promoter (GO:0072366)|regulation of circadian rhythm (GO:0042752)|regulation of glycolytic by positive regulation of transcription from RNA polymerase II promoter (GO:0072363)|regulation of lipid transport by positive regulation of transcription from RNA polymerase II promoter (GO:0072369)|response to hypoxia (GO:0001666)|response to insulin (GO:0032868)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|wound healing (GO:0042060)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|drug binding (GO:0008144)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|lipid binding (GO:0008289)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II repressing transcription factor binding (GO:0001103)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|ubiquitin conjugating enzyme binding (GO:0031624)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	15		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00522)	Bezafibrate(DB01393)|Clofibrate(DB00636)|Fenofibrate(DB01039)|Gemfibrozil(DB01241)|Indomethacin(DB00328)	CCTTTCTGTCGGGATGTCACA	0.488																																						ENST00000396000.2																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	15						c.(493-495)Ggg>Agg		peroxisome proliferator-activated receptor alpha	Atorvastatin(DB01076)|Bezafibrate(DB01393)|Clofibrate(DB00636)|Fenofibrate(DB01039)|Gemfibrozil(DB01241)|Simvastatin(DB00641)						244	217	226					22																	46614283		2203	4300	6503	SO:0001583	missense	5465				fatty acid metabolic process|fatty acid transport|negative regulation of appetite|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|negative regulation of receptor biosynthetic process|negative regulation of sequestering of triglyceride|negative regulation of transcription from RNA polymerase II promoter|positive regulation of fatty acid beta-oxidation|regulation of cellular ketone metabolic process by positive regulation of transcription from an RNA polymerase II promoter|regulation of glycolysis by positive regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by positive regulation of transcription from an RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	drug binding|ligand-regulated transcription factor activity|lipid binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|ubiquitin conjugating enzyme binding|zinc ion binding	g.chr22:46614283G>A	L02932	CCDS33669.1	22q12-q13.1	2013-01-16	2006-10-17		ENSG00000186951	ENSG00000186951		"Nuclear hormone receptors"	9232	protein-coding gene	gene with protein product		170998	"peroxisome proliferative activated receptor, alpha"	PPAR		7684926, 10591208	Standard	XM_005261655		Approved	hPPAR, NR1C1	uc003bgx.1	Q07869	OTTHUMG00000150443	ENST00000396000.2:c.493G>A	22.37:g.46614283G>A	ENSP00000379322:p.Gly165Arg					PPARA_ENST00000402126.1_Missense_Mutation_p.G165R|PPARA_ENST00000407236.1_Missense_Mutation_p.G165R|PPARA_ENST00000262735.5_Missense_Mutation_p.G165R|PPARA_ENST00000434345.2_Missense_Mutation_p.G165R	p.G165R			Q07869	PPARA_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.00522)	5	758	+		Ovarian(80;0.00965)|all_neural(38;0.0416)	165					B0G0X3|Q16241|Q6I9S0|Q92486|Q92689|Q9Y3N1	Missense_Mutation	SNP	ENST00000396000.2	37	c.493G>A	CCDS33669.1	.	.	.	.	.	.	.	.	.	.	G	33	5.233954	0.95207	.	.	ENSG00000186951	ENST00000396000;ENST00000262735;ENST00000407236;ENST00000402126;ENST00000434345	D;D;D;D;D	0.99578	-6.21;-6.21;-6.21;-6.21;-6.21	5.67	5.67	0.87782	Nuclear hormone receptor, ligand-binding (1);Zinc finger, nuclear hormone receptor-type (4);	0.000000	0.85682	D	0.000000	D	0.99840	0.9927	H	0.98701	4.305	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.96765	0.9564	10	0.66056	D	0.02	.	18.7666	0.91876	0.0:0.0:1.0:0.0	.	165;165	F1D8S4;Q07869	.;PPARA_HUMAN	R	165	ENSP00000379322:G165R;ENSP00000262735:G165R;ENSP00000385523:G165R;ENSP00000385246:G165R;ENSP00000408149:G165R	ENSP00000262735:G165R	G	+	1	0	PPARA	44992947	1.000000	0.71417	0.970000	0.41538	0.995000	0.86356	9.632000	0.98428	2.658000	0.90341	0.591000	0.81541	GGG		0.488	PPARA-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318129.3	NM_001001928		55	152	0	0	0	1	0	55	152					A	46614283	G	A	46614283	3	1	305	1	0	0	0	0	1	0	0	0	12297	1116	39	2	503	2	PPARA	22	46614283	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	873766	46614283	4690283	1119	15636											
MLC1	23209	broad.mit.edu	37	chr22	50502485	50502485	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccccagccaggcgctcctgcGggccgttctgggtgtcccag	3	7	14	17	3	1	0	0	0	1	0	3	0	3	0	6	3	2	2	6	3	0	1			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr22:50502485G>A	ENST00000311597.5	-	11	1643	c.1037C>T	c.(1036-1038)cCg>cTg	p.P346L	MLC1_ENST00000535444.1_Missense_Mutation_p.P267L|MLC1_ENST00000395876.2_Missense_Mutation_p.P346L|MLC1_ENST00000450140.2_Missense_Mutation_p.P294L|MLC1_ENST00000431262.2_Missense_Mutation_p.P316L|MLC1_ENST00000538737.1_Missense_Mutation_p.P312L|MLC1_ENST00000483836.1_5'UTR	NM_015166.3	NP_055981.1	Q15049	MLC1_HUMAN	megalencephalic leukoencephalopathy with subcortical cysts 1	346					caveolin-mediated endocytosis (GO:0072584)|cellular response to cholesterol (GO:0071397)|ion transport (GO:0006811)|positive regulation of intracellular transport (GO:0032388)|protein oligomerization (GO:0051259)|regulation of response to osmotic stress (GO:0047484)|transport (GO:0006810)|vesicle-mediated transport (GO:0016192)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|caveola (GO:0005901)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	protein complex binding (GO:0032403)|protein transporter activity (GO:0008565)|transporter activity (GO:0005215)			endometrium(1)|kidney(1)|large_intestine(5)|lung(7)|pancreas(1)|prostate(3)	18		all_cancers(38;7.69e-11)|all_epithelial(38;9.52e-10)|all_lung(38;3.67e-05)|Breast(42;0.000776)|Lung NSC(38;0.000946)|Ovarian(80;0.0365)|Lung SC(80;0.113)		READ - Rectum adenocarcinoma(2;0.000669)|Colorectal(2;0.00242)|LUAD - Lung adenocarcinoma(64;0.0695)|BRCA - Breast invasive adenocarcinoma(115;0.216)		GCGCTCCTGCGGGCCGTTCTG	0.706																																						ENST00000311597.5																			0				endometrium(1)|kidney(1)|large_intestine(5)|lung(7)|pancreas(1)|prostate(3)	18						c.(1036-1038)cCg>cTg		megalencephalic leukoencephalopathy with subcortical cysts 1							33	31	31					22																	50502485		2201	4300	6501	SO:0001583	missense	23209					basolateral plasma membrane|endosome|integral to membrane|integral to membrane of membrane fraction	ion channel activity	g.chr22:50502485G>A	D25217	CCDS14083.1	22q13.33	2007-03-20			ENSG00000100427	ENSG00000100427			17082	protein-coding gene	gene with protein product		605908				7584026, 7584028	Standard	XR_430476		Approved	MLC, KIAA0027, LVM, VL	uc003bjg.1	Q15049	OTTHUMG00000150236	ENST00000311597.5:c.1037C>T	22.37:g.50502485G>A	ENSP00000310375:p.Pro346Leu					MLC1_ENST00000431262.2_Missense_Mutation_p.P316L|MLC1_ENST00000535444.1_Missense_Mutation_p.P267L|MLC1_ENST00000483836.1_5'UTR|MLC1_ENST00000538737.1_Missense_Mutation_p.P312L|MLC1_ENST00000395876.2_Missense_Mutation_p.P346L|MLC1_ENST00000450140.2_Missense_Mutation_p.P294L	p.P346L	NM_015166.3	NP_055981.1	Q15049	MLC1_HUMAN		READ - Rectum adenocarcinoma(2;0.000669)|Colorectal(2;0.00242)|LUAD - Lung adenocarcinoma(64;0.0695)|BRCA - Breast invasive adenocarcinoma(115;0.216)	11	1643	-		all_cancers(38;7.69e-11)|all_epithelial(38;9.52e-10)|all_lung(38;3.67e-05)|Breast(42;0.000776)|Lung NSC(38;0.000946)|Ovarian(80;0.0365)|Lung SC(80;0.113)	346					B3KW61|B7Z659|Q5JZ83|Q8TAG4|Q96RP5|Q9UGY8	Missense_Mutation	SNP	ENST00000311597.5	37	c.1037C>T	CCDS14083.1	.	.	.	.	.	.	.	.	.	.	g	11.01	1.513143	0.27123	.	.	ENSG00000100427	ENST00000395876;ENST00000311597;ENST00000538737;ENST00000431262;ENST00000535444;ENST00000450140	D;D;D;D;D;D	0.96745	-4.11;-4.11;-4.11;-4.11;-4.11;-4.11	3.83	-4.51	0.03483	.	0.744092	0.13000	N	0.421717	D	0.90597	0.7052	L	0.44542	1.39	0.09310	N	1	B;B;B;B	0.12630	0.006;0.006;0.004;0.003	B;B;B;B	0.09377	0.004;0.004;0.004;0.004	T	0.80256	-0.1458	10	0.62326	D	0.03	-13.4814	2.4472	0.04509	0.1063:0.1385:0.2893:0.4658	.	312;316;294;346	F5H1B9;B7Z659;B7Z1X1;Q15049	.;.;.;MLC1_HUMAN	L	346;346;312;316;267;294	ENSP00000379216:P346L;ENSP00000310375:P346L;ENSP00000445805:P312L;ENSP00000415877:P316L;ENSP00000438910:P267L;ENSP00000412448:P294L	ENSP00000310375:P346L	P	-	2	0	MLC1	48844612	0.000000	0.05858	0.001000	0.08648	0.023000	0.10783	-2.373000	0.01072	-0.755000	0.04709	0.550000	0.68814	CCG		0.706	MLC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316979.2	NM_015166		6	35	0	0	0	1	0	6	35					A	50502485	G	A	50502485	3	1	305	1	0	0	0	0	1	0	0	0	9612	1116	39	2	104	2	MLC1	22	50502485	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	3888202	50502485	802081	1120	15637											
SAPS2	9701	broad.mit.edu	37	chr22	50873400	50873400	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcctgttgctttcagggcagCgggtggcatgagacgtggga	6	9	18	8	2	1	1	1	1	0	1	1	3	1	2	1	4	2	4	1	4	0	2			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr22:50873400C>T	ENST00000216061.5	+	14	1776	c.1406C>T	c.(1405-1407)gCg>gTg	p.A469V	PPP6R2_ENST00000395741.3_Missense_Mutation_p.A470V|PPP6R2_ENST00000359139.3_Missense_Mutation_p.A469V|PPP6R2_ENST00000395744.3_Missense_Mutation_p.A469V			O75170	PP6R2_HUMAN	protein phosphatase 6, regulatory subunit 2	469						cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(6)|ovary(2)|skin(1)|urinary_tract(1)	22						TTCAGGGCAGCGGGTGGCATG	0.667																																						ENST00000359139.3																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(6)|ovary(2)|skin(1)|urinary_tract(1)	22						c.(1405-1407)gCg>gTg		protein phosphatase 6, regulatory subunit 2							50	42	45					22																	50873400		2202	4300	6502	SO:0001583	missense	9701					cytoplasm|intracellular membrane-bounded organelle	protein binding	g.chr22:50873400C>T	AB014585	CCDS33681.1, CCDS56235.1, CCDS56236.1, CCDS74881.1	22q13.33	2012-04-17	2010-06-28	2010-06-28	ENSG00000100239	ENSG00000100239		"Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits"	19253	protein-coding gene	gene with protein product		610877	"KIAA0685", "SAPS domain family, member 2"	KIAA0685, SAPS2		16769727	Standard	NM_014678		Approved	dJ579N16.1, SAP190	uc003blc.3	O75170	OTTHUMG00000150199	ENST00000216061.5:c.1406C>T	22.37:g.50873400C>T	ENSP00000216061:p.Ala469Val					PPP6R2_ENST00000395741.3_Missense_Mutation_p.A470V|PPP6R2_ENST00000395744.3_Missense_Mutation_p.A469V|PPP6R2_ENST00000216061.5_Missense_Mutation_p.A469V	p.A469V	NM_001242898.1|NM_001242899.1|NM_001242900.1|NM_014678.4	NP_001229827.1|NP_001229828.1|NP_001229829.1|NP_055493.2	O75170	PP6R2_HUMAN			13	1800	+			469					A6PVG3|B7Z7T3|Q5U5P3|Q7Z2L2|Q7Z5G5|Q7Z731|Q9UGB9	Missense_Mutation	SNP	ENST00000216061.5	37	c.1406C>T		.	.	.	.	.	.	.	.	.	.	C	19.15	3.772467	0.69992	.	.	ENSG00000100239	ENST00000359139;ENST00000395741;ENST00000395744;ENST00000216061	T;T;T;T	0.35421	1.33;1.33;1.33;1.31	4.59	2.08	0.27032	.	0.167993	0.50627	D	0.000106	T	0.50973	0.1647	M	0.62088	1.915	0.28719	N	0.903111	D;D;D;P;D;P	0.76494	0.999;0.983;0.995;0.861;0.983;0.861	D;P;P;P;P;P	0.69479	0.964;0.732;0.772;0.448;0.662;0.448	T	0.43829	-0.9367	10	0.62326	D	0.03	-16.7288	9.8142	0.40842	0.5551:0.4449:0.0:0.0	.	28;469;469;470;469;469	F2Z3M7;O75170-5;O75170;O75170-3;O75170-4;O75170-2	.;.;PP6R2_HUMAN;.;.;.	V	469;470;469;469	ENSP00000352051:A469V;ENSP00000379090:A470V;ENSP00000379093:A469V;ENSP00000216061:A469V	ENSP00000216061:A469V	A	+	2	0	PPP6R2	49220266	0.999000	0.42202	0.511000	0.27724	0.689000	0.40095	4.141000	0.58038	1.029000	0.39812	0.563000	0.77884	GCG		0.667	PPP6R2-004	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000316809.1	NM_014678		9	30	0	0	0	1	0	9	30					T	50873400	C	T	50873400	3	4	305	1	0	0	0	0	1	0	0	0	13837	768	27	1	1448	1	SAPS2	22	50873400	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	370915	50873400	431166	1121	15638											
SHROOM2	357	broad.mit.edu	37	chrX	9841702	9841702	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tctgttacagattgaagaggGcagtaaagccgcggcggtcg	10	8	15	8	4	1	3	0	1	1	2	2	3	1	3	1	3	2	3	1	3	4	3			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chrX:9841702G>A	ENST00000380913.3	+	2	266	c.176G>A	c.(175-177)gGc>gAc	p.G59D	Y_RNA_ENST00000384117.1_RNA	NM_001649.2	NP_001640.1	Q13796	SHRM2_HUMAN	shroom family member 2	59	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				apical protein localization (GO:0045176)|brain development (GO:0007420)|camera-type eye development (GO:0043010)|camera-type eye morphogenesis (GO:0048593)|cell migration (GO:0016477)|cell-cell junction maintenance (GO:0045217)|cellular pigment accumulation (GO:0043482)|ear development (GO:0043583)|establishment of melanosome localization (GO:0032401)|eye pigment granule organization (GO:0008057)|lens morphogenesis in camera-type eye (GO:0002089)|melanosome organization (GO:0032438)|negative regulation of actin filament depolymerization (GO:0030835)|sodium ion transmembrane transport (GO:0035725)	apical plasma membrane (GO:0016324)|cell cortex (GO:0005938)|cell-cell adherens junction (GO:0005913)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|microtubule (GO:0005874)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|beta-catenin binding (GO:0008013)|ligand-gated sodium channel activity (GO:0015280)			breast(4)|central_nervous_system(2)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	57		Hepatocellular(5;0.000888)				ATTGAAGAGGGCAGTAAAGCC	0.532											OREG0019659	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000380913.3																			0				breast(4)|central_nervous_system(2)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	57						c.(175-177)gGc>gAc		shroom family member 2							97	86	90					X																	9841702		2203	4300	6503	SO:0001583	missense	357				apical protein localization|brain development|cell migration|cell morphogenesis|cellular pigment accumulation|ear development|establishment of melanosome localization|eye pigment granule organization|lens morphogenesis in camera-type eye|melanosome organization	apical plasma membrane|cell-cell adherens junction|microtubule|tight junction	actin filament binding|beta-catenin binding|ligand-gated sodium channel activity	g.chrX:9841702G>A	X83543	CCDS14135.1	Xp22.3	2008-02-05	2006-07-20	2006-07-20	ENSG00000146950	ENSG00000146950			630	protein-coding gene	gene with protein product		300103	"apical protein, Xenopus laevis-like", "apical protein-like (Xenopus laevis)"	APXL		7795590, 16615870	Standard	NM_001649		Approved		uc004csu.1	Q13796	OTTHUMG00000021121	ENST00000380913.3:c.176G>A	X.37:g.9841702G>A	ENSP00000370299:p.Gly59Asp		OREG0019659	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	660		p.G59D	NM_001649.2	NP_001640.1	Q13796	SHRM2_HUMAN			2	266	+		Hepatocellular(5;0.000888)	59			PDZ.		B9EIQ7	Missense_Mutation	SNP	ENST00000380913.3	37	c.176G>A	CCDS14135.1	.	.	.	.	.	.	.	.	.	.	G	15.41	2.824227	0.50739	.	.	ENSG00000146950	ENST00000380913	T	0.39406	1.08	5.23	4.37	0.52481	PDZ/DHR/GLGF (4);	0.067567	0.56097	D	0.000021	T	0.62441	0.2428	M	0.71581	2.175	0.80722	D	1	D	0.69078	0.997	D	0.77557	0.99	T	0.66011	-0.6029	10	0.87932	D	0	-24.4632	13.2154	0.59856	0.0788:0.0:0.9212:0.0	.	59	Q13796	SHRM2_HUMAN	D	59	ENSP00000370299:G59D	ENSP00000370299:G59D	G	+	2	0	SHROOM2	9801702	1.000000	0.71417	0.245000	0.24217	0.008000	0.06430	9.275000	0.95738	1.011000	0.39340	-0.192000	0.12808	GGC		0.532	SHROOM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055721.1	NM_001649		4	34	0	0	0	1	0	4	34					A	9841702	G	A	9841702	3	1	305	1	0	0	0	0	1	0	0	0	14294	1203	42	3	182	3	SHROOM2	23	9841702	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08		9841702	145428858	1122	15639											
OFD1	8481	broad.mit.edu	37	chrX	13778282	13778282	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaagcagtctgtgatcgatcGttctgtcaatggattaataa	13	13	9	6	2	3	1	1	1	2	0	5	3	3	2	0	1	1	2	0	1	4	3	rs376012267		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chrX:13778282G>A	ENST00000340096.6	+	16	2030	c.1703G>A	c.(1702-1704)cGt>cAt	p.R568H	OFD1_ENST00000380550.3_Missense_Mutation_p.R528H|OFD1_ENST00000490265.1_3'UTR|OFD1_ENST00000380567.1_Missense_Mutation_p.R428H	NM_003611.2	NP_003602.1	O75665	OFD1_HUMAN	oral-facial-digital syndrome 1	568					axoneme assembly (GO:0035082)|cilium morphogenesis (GO:0060271)|embryonic body morphogenesis (GO:0010172)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|negative regulation of fibroblast growth factor receptor signaling pathway involved in neural plate anterior/posterior pattern formation (GO:2000314)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|cytosol (GO:0005829)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)	alpha-tubulin binding (GO:0043014)|gamma-tubulin binding (GO:0043015)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	25						GTGATCGATCGTTCTGTCAAT	0.418																																						ENST00000380567.1																			0				breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	25						c.(1282-1284)cGt>cAt		oral-facial-digital syndrome 1		G	HIS/ARG	0,3835		0,0,1632,571	151	134	140		1703	-0.3	0	X		140	1,6727		0,1,2427,1872	no	missense	OFD1	NM_003611.2	29	0,1,4059,2443	AA,AG,GG,G		0.0149,0.0,0.0095	benign	568/1013	13778282	1,10562	2203	4300	6503	SO:0001583	missense	8481				cilium movement involved in determination of left/right asymmetry|G2/M transition of mitotic cell cycle	centriole|cilium|cytosol|microtubule basal body|nuclear membrane	alpha-tubulin binding|gamma-tubulin binding	g.chrX:13778282G>A	Y15164	CCDS14157.1	Xp22	2014-06-18			ENSG00000046651	ENSG00000046651			2567	protein-coding gene	gene with protein product		300170	"retinitis pigmentosa 23 (X-linked recessive)"	CXorf5, RP23		9722947, 9215688, 22619378	Standard	NM_003611		Approved	71-7A, JBTS10	uc004cvp.4	O75665	OTTHUMG00000021159	ENST00000340096.6:c.1703G>A	X.37:g.13778282G>A	ENSP00000344314:p.Arg568His					OFD1_ENST00000380550.3_Missense_Mutation_p.R528H|OFD1_ENST00000490265.1_3'UTR|OFD1_ENST00000340096.6_Missense_Mutation_p.R568H	p.R428H			O75665	OFD1_HUMAN			17	2155	+			568					B9ZVU5|O75666|Q4VAK4	Missense_Mutation	SNP	ENST00000340096.6	37	c.1283G>A	CCDS14157.1	.	.	.	.	.	.	.	.	.	.	.	13.12	2.141890	0.37825	0.0	1.49E-4	ENSG00000046651	ENST00000380550;ENST00000340096;ENST00000380567	D;D;D	0.96459	-4.02;-3.98;-1.85	5.67	-0.29	0.12847	.	0.474150	0.21925	N	0.067110	D	0.89248	0.6661	N	0.11845	0.185	0.09310	N	1	B;B;B;B;B	0.21309	0.023;0.054;0.054;0.054;0.054	B;B;B;B;B	0.14023	0.007;0.01;0.01;0.01;0.007	T	0.78633	-0.2128	10	0.33141	T	0.24	0.5295	11.1856	0.48655	0.4514:0.0:0.5486:0.0	.	568;528;236;428;568	A8K2T9;O75665-3;B4DLQ3;A6NF31;O75665	.;.;.;.;OFD1_HUMAN	H	528;568;428	ENSP00000369923:R528H;ENSP00000344314:R568H;ENSP00000369941:R428H	ENSP00000344314:R568H	R	+	2	0	OFD1	13688203	0.009000	0.17119	0.000000	0.03702	0.617000	0.37484	0.183000	0.16919	-0.241000	0.09681	0.529000	0.55759	CGT		0.418	OFD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055808.1	NM_003611		41	35	0	0	0	1	0	41	35					A	13778282	G	A	13778282	3	1	305	1	0	0	0	0	1	0	0	0	10838	1145	40	1	1765	1	OFD1	23	13778282	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	3936580	13778282	141492278	1123	15640											
MAP3K15	389840	broad.mit.edu	37	chrX	19389112	19389112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgaccgcggcctgcaccgctCggcggatgatgttgtccatc	5	9	13	14	5	0	2	0	2	0	0	3	3	1	3	4	3	1	3	4	3	0	1			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chrX:19389112C>T	ENST00000338883.4	-	24	3364	c.3365G>A	c.(3364-3366)cGa>cAa	p.R1122Q	MAP3K15_ENST00000359173.3_Missense_Mutation_p.R557Q|MAP3K15_ENST00000469203.2_Missense_Mutation_p.R954Q|MAP3K15_ENST00000518578.1_5'UTR	NM_001001671.3	NP_001001671.3	Q6ZN16	M3K15_HUMAN	mitogen-activated protein kinase kinase kinase 15	1122							ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|metal ion binding (GO:0046872)			NS(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(13)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42	Hepatocellular(33;0.183)					CTGCACCGCTCGGCGGATGAT	0.438																																						ENST00000338883.4																			0				NS(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(13)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42						c.(3364-3366)cGa>cAa		mitogen-activated protein kinase kinase kinase 15							64	63	63					X																	19389112		2203	4300	6503	SO:0001583	missense	389840						ATP binding|MAP kinase kinase kinase activity|metal ion binding	g.chrX:19389112C>T	AK131412		Xp22.12	2011-06-09			ENSG00000180815	ENSG00000180815		"Mitogen-activated protein kinase cascade / Kinase kinase kinases"	31689	protein-coding gene	gene with protein product		300820					Standard	NM_001001671		Approved	bA723P2.3, FLJ16518	uc022btq.1	Q6ZN16	OTTHUMG00000022724	ENST00000338883.4:c.3365G>A	X.37:g.19389112C>T	ENSP00000345629:p.Arg1122Gln					MAP3K15_ENST00000518578.1_5'UTR|MAP3K15_ENST00000469203.2_Missense_Mutation_p.R954Q|MAP3K15_ENST00000359173.3_Missense_Mutation_p.R557Q	p.R1122Q	NM_001001671.3	NP_001001671.3	Q6ZN16	M3K15_HUMAN			24	3364	-	Hepatocellular(33;0.183)		1122					A2AI49|A2AI50|A6NJ61|Q5JPR4|Q6ZMV3	Missense_Mutation	SNP	ENST00000338883.4	37	c.3365G>A		.	.	.	.	.	.	.	.	.	.	C	18.46	3.628198	0.66901	.	.	ENSG00000180815	ENST00000338883;ENST00000359173;ENST00000469203	T;T;T	0.72725	-0.62;-0.68;-0.62	5.25	1.51	0.23008	.	0.058021	0.64402	N	0.000001	T	0.73001	0.3531	M	0.73319	2.225	0.47819	D	0.999523	D;D	0.65815	0.992;0.995	P;P	0.51657	0.676;0.564	T	0.69698	-0.5075	10	0.44086	T	0.13	.	9.5323	0.39202	0.0:0.7025:0.0:0.2975	.	597;1122	Q6ZN16-3;Q6ZN16	.;M3K15_HUMAN	Q	1122;557;954	ENSP00000345629:R1122Q;ENSP00000352093:R557Q;ENSP00000428356:R954Q	ENSP00000345629:R1122Q	R	-	2	0	MAP3K15	19299033	0.980000	0.34600	0.002000	0.10522	0.779000	0.44077	2.432000	0.44784	-0.052000	0.13311	0.556000	0.70494	CGA		0.438	MAP3K15-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001001671		6	59	0	0	0	1	0	6	59					T	19389112	C	T	19389112	3	4	305	1	0	0	0	0	1	0	0	0	9249	884	31	2	600	2	MAP3K15	23	19389112	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	5610830	19389112	135881448	1124	15641											
FAM47C	442444	broad.mit.edu	37	chrX	37028757	37028757	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagagcctcttgagactcgCgtatctcatctccgcccgga	7	9	9	16	4	3	2	1	1	3	2	6	4	3	3	4	1	1	1	4	1	1	2			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chrX:37028757C>T	ENST00000358047.3	+	1	2326	c.2274C>T	c.(2272-2274)cgC>cgT	p.R758R		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	758								p.R758R(2)		breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						TTGAGACTCGCGTATCTCATC	0.632																																						ENST00000358047.3																			2	Substitution - coding silent(2)	p.R758R(2)	lung(2)	breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						c.(2272-2274)cgC>cgT		family with sequence similarity 47, member C							46	44	45					X																	37028757		2202	4300	6502	SO:0001819	synonymous_variant	442444							g.chrX:37028757C>T	AK125992	CCDS35227.1	Xp21.1	2006-07-04			ENSG00000198173	ENSG00000198173			25301	protein-coding gene	gene with protein product							Standard	NM_001013736		Approved		uc004ddl.2	Q5HY64	OTTHUMG00000024025	ENST00000358047.3:c.2274C>T	X.37:g.37028757C>T							p.R758R	NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN			1	2326	+			758					Q6ZU46	Silent	SNP	ENST00000358047.3	37	c.2274C>T	CCDS35227.1																																																																																				0.632	FAM47C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060508.1	NM_001013736		12	62	0	0	0	1	0	12	62					T	37028757	C	T	37028757	2	4	305	1	0	0	0	0	0	0	0	1	5571	755	27	1		1	FAM47C	23	37028757	Silent	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	17639645	37028757	118241803	1125	15642											
UBA1	7317	broad.mit.edu	37	chrX	47069466	47069466	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgggcctgccaccactggCacacccagtactcgaacaac	10	5	8	18	1	0	0	0	0	0	0	1	1	0	0	5	2	4	2	5	2	3	1			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chrX:47069466C>T	ENST00000335972.6	+	18	2326	c.2143C>T	c.(2143-2145)Cac>Tac	p.H715Y	UBA1_ENST00000377269.3_Missense_Mutation_p.H163Y|UBA1_ENST00000377351.4_Missense_Mutation_p.H715Y	NM_003334.3	NP_003325.2	P22314	UBA1_HUMAN	ubiquitin-like modifier activating enzyme 1	715					cell death (GO:0008219)|cellular response to DNA damage stimulus (GO:0006974)|modification-dependent protein catabolic process (GO:0019941)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|ubiquitin activating enzyme activity (GO:0004839)|ubiquitin-protein transferase activity (GO:0004842)			breast(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						CCACCACTGGCACACCCAGTA	0.607																																						ENST00000335972.6																			0				breast(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						c.(2143-2145)Cac>Tac		ubiquitin-like modifier activating enzyme 1							55	47	50					X																	47069466		2203	4300	6503	SO:0001583	missense	7317				cell death|protein modification process		ATP binding|ligase activity|protein binding|small protein activating enzyme activity	g.chrX:47069466C>T	AF258566	CCDS14275.1	Xp11.23	2014-08-13	2007-11-30	2007-11-30	ENSG00000130985	ENSG00000130985	6.3.2.19	"Ubiquitin-like modifier activating enzymes"	12469	protein-coding gene	gene with protein product	"UBA1, ubiquitin-activating enzyme E1 homolog (yeast)", "POC20 centriolar protein homolog (Chlamydomonas)"	314370	"ubiquitin-activating enzyme E1 (A1S9T and BN75 temperature sensitivity complementing)", "ubiquitin-activating enzyme E1"	A1S9T, GXP1, UBE1		1845793	Standard	NM_153280		Approved	UBE1X, POC20, CFAP124	uc004dhj.4	P22314	OTTHUMG00000021436	ENST00000335972.6:c.2143C>T	X.37:g.47069466C>T	ENSP00000338413:p.His715Tyr					UBA1_ENST00000377351.4_Missense_Mutation_p.H715Y|UBA1_ENST00000377269.3_Missense_Mutation_p.H163Y	p.H715Y	NM_003334.3	NP_003325.2	P22314	UBA1_HUMAN			18	2326	+			715					Q5JRR8|Q96E13	Missense_Mutation	SNP	ENST00000335972.6	37	c.2143C>T	CCDS14275.1	.	.	.	.	.	.	.	.	.	.	C	16.63	3.177145	0.57692	.	.	ENSG00000130985	ENST00000377351;ENST00000335972;ENST00000377269	T;T;T	0.62941	-0.01;-0.01;-0.01	3.97	3.97	0.46021	Molybdenum cofactor biosynthesis, MoeB (1);Ubiquitin-like 1 activating enzyme, catalytic cysteine domain (1);	0.110189	0.64402	D	0.000005	T	0.62196	0.2408	M	0.62723	1.935	0.44155	D	0.996957	D;P	0.58970	0.984;0.952	P;B	0.46320	0.512;0.256	T	0.66019	-0.6027	10	0.45353	T	0.12	-25.0926	12.7603	0.57361	0.0:1.0:0.0:0.0	.	163;715	Q5JRR6;P22314	.;UBA1_HUMAN	Y	715;715;163	ENSP00000366568:H715Y;ENSP00000338413:H715Y;ENSP00000366481:H163Y	ENSP00000338413:H715Y	H	+	1	0	UBA1	46954410	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.433000	0.59929	2.237000	0.73441	0.529000	0.55759	CAC		0.607	UBA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056389.1	NM_003334		5	40	0	0	0	1	0	5	40					T	47069466	C	T	47069466	3	4	305	1	0	0	0	0	1	0	0	0	16824	710	25	3	2209	3	UBA1	23	47069466	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	10040709	47069466	108201094	1126	15643											
HEPH	9843	broad.mit.edu	37	chrX	65413405	65413405	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggggcacttactggaaagtgCgatatgaagcctttcaagat	12	10	12	7	1	1	2	1	1	0	1	1	4	1	3	1	3	3	1	1	3	5	3			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chrX:65413405C>T	ENST00000343002.2	+	7	1958	c.1294C>T	c.(1294-1296)Cga>Tga	p.R432*	HEPH_ENST00000519389.1_Nonsense_Mutation_p.R486*|HEPH_ENST00000374727.3_Nonsense_Mutation_p.R435*|HEPH_ENST00000419594.1_Nonsense_Mutation_p.R435*|HEPH_ENST00000336279.5_Nonsense_Mutation_p.R165*|HEPH_ENST00000441993.2_Nonsense_Mutation_p.R435*			Q9BQS7	HEPH_HUMAN	hephaestin	432	Plastocyanin-like 3.				cellular iron ion homeostasis (GO:0006879)|copper ion transport (GO:0006825)|iron ion transport (GO:0006826)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	copper ion binding (GO:0005507)|ferrous iron binding (GO:0008198)|ferroxidase activity (GO:0004322)			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						CTGGAAAGTGCGATATGAAGC	0.368																																						ENST00000519389.1																			0				endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						c.(1456-1458)Cga>Tga		hephaestin							47	42	44					X																	65413405		2203	4300	6503	SO:0001587	stop_gained	9843				cellular iron ion homeostasis|copper ion transport|transmembrane transport	integral to membrane|plasma membrane	copper ion binding|oxidoreductase activity	g.chrX:65413405C>T	AB014598	CCDS14384.2, CCDS14385.1, CCDS48133.1, CCDS14384.3, CCDS65277.1	Xq11-q12	2008-02-05			ENSG00000089472	ENSG00000089472			4866	protein-coding gene	gene with protein product		300167				9988272, 9734811	Standard	NM_014799		Approved	KIAA0698, CPL	uc011moz.2	Q9BQS7	OTTHUMG00000021732	ENST00000343002.2:c.1294C>T	X.37:g.65413405C>T	ENSP00000343939:p.Arg432*					HEPH_ENST00000336279.5_Nonsense_Mutation_p.R165*|HEPH_ENST00000343002.2_Nonsense_Mutation_p.R432*|HEPH_ENST00000419594.1_Nonsense_Mutation_p.R435*|HEPH_ENST00000441993.2_Nonsense_Mutation_p.R435*|HEPH_ENST00000374727.3_Nonsense_Mutation_p.R435*	p.R486*			Q9BQS7	HEPH_HUMAN			8	1635	+			432			Plastocyanin-like 3.		B1AJX8|D3DVT7|E9PHN8|O75180|Q6UW45|Q9C058	Nonsense_Mutation	SNP	ENST00000343002.2	37	c.1456C>T		.	.	.	.	.	.	.	.	.	.	C	36	5.919599	0.97105	.	.	ENSG00000089472	ENST00000519389;ENST00000374727;ENST00000336279;ENST00000441993;ENST00000419594;ENST00000343002;ENST00000425114	.	.	.	5.39	4.47	0.54385	.	0.346769	0.27185	N	0.020534	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05525	T	0.97	.	9.3231	0.37977	0.1586:0.6896:0.1518:0.0	.	.	.	.	X	486;435;165;435;435;432;432	.	ENSP00000337418:R165X	R	+	1	2	HEPH	65330130	0.001000	0.12720	1.000000	0.80357	0.984000	0.73092	0.645000	0.24782	2.259000	0.74868	0.594000	0.82650	CGA		0.368	HEPH-002	KNOWN	alternative_5_UTR|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000056995.1	NM_138737		3	15	0	0	0	1	0	3	15					T	65413405	C	T	65413405	4	4	305	1	0	0	0	0	0	1	0	0	7054	760	27	1	1486	1	HEPH	23	65413405	Nonsense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	18343939	65413405	89857155	1127	15644											
PJA1	64219	broad.mit.edu	37	chrX	68381892	68381892	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gttcccgctcttctttccccGgcagagtctcccagctttcg	3	13	8	17	3	3	1	0	0	3	1	7	1	5	1	4	1	1	4	4	1	0	4	rs180767696		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chrX:68381892G>A	ENST00000361478.1	-	2	1567	c.1190C>T	c.(1189-1191)cCg>cTg	p.P397L	PJA1_ENST00000374584.3_Missense_Mutation_p.P209L|PJA1_ENST00000477231.1_5'Flank|PJA1_ENST00000374571.4_Missense_Mutation_p.P342L|PJA1_ENST00000374583.1_Missense_Mutation_p.P397L	NM_001032396.2|NM_022368.4|NM_145119.3	NP_001027568.1|NP_071763.2|NP_660095.1	Q8NG27	PJA1_HUMAN	praja ring finger 1, E3 ubiquitin protein ligase	397					protein catabolic process (GO:0030163)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(3)|large_intestine(5)|lung(12)|ovary(1)	21						TTCTTTCCCCGGCAGAGTCTC	0.627													g|||	1	0.000264901	0	0	3775	,	,		12523	0		0.001	False		,,,				2504	0					ENST00000361478.1																			0				endometrium(3)|large_intestine(5)|lung(12)|ovary(1)	21						c.(1189-1191)cCg>cTg		praja ring finger 1, E3 ubiquitin protein ligase							29	30	30					X																	68381892		2203	4298	6501	SO:0001583	missense	64219						zinc ion binding	g.chrX:68381892G>A	AK021892	CCDS14392.1, CCDS14393.1, CCDS35316.1	Xq13.1	2013-01-09	2012-02-23		ENSG00000181191	ENSG00000181191		"RING-type (C3HC4) zinc fingers"	16648	protein-coding gene	gene with protein product		300420	"praja 1", "praja ring finger 1"			12036302	Standard	NM_001032396		Approved	FLJ11830, RNF70	uc004dxh.3	Q8NG27	OTTHUMG00000021753	ENST00000361478.1:c.1190C>T	X.37:g.68381892G>A	ENSP00000355014:p.Pro397Leu					PJA1_ENST00000374584.3_Missense_Mutation_p.P209L|PJA1_ENST00000374583.1_Missense_Mutation_p.P397L|PJA1_ENST00000374571.4_Missense_Mutation_p.P342L	p.P397L	NM_001032396.2|NM_022368.4|NM_145119.3	NP_001027568.1|NP_071763.2|NP_660095.1	Q8NG27	PJA1_HUMAN			2	1567	-			397					A2A322|Q5JUT8|Q5JUT9|Q8NG28|Q9HAC1	Missense_Mutation	SNP	ENST00000361478.1	37	c.1190C>T	CCDS14393.1	1	6.027727546714888E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	g	11.72	1.723382	0.30503	.	.	ENSG00000181191	ENST00000396010;ENST00000374584;ENST00000374583;ENST00000361478;ENST00000374571	T;T;T;T	0.05855	3.38;3.38;3.38;3.38	3.44	1.58	0.23477	.	0.116572	0.37178	N	0.002212	T	0.07279	0.0184	M	0.62723	1.935	0.39391	D	0.966412	B;B	0.14012	0.002;0.009	B;B	0.12156	0.002;0.007	T	0.13737	-1.0498	10	0.87932	D	0	-1.3169	5.2268	0.15399	0.1214:0.0:0.6753:0.2033	.	397;209	Q8NG27;Q8NG27-2	PJA1_HUMAN;.	L	312;209;397;397;342	ENSP00000363712:P209L;ENSP00000363711:P397L;ENSP00000355014:P397L;ENSP00000363699:P342L	ENSP00000355014:P397L	P	-	2	0	PJA1	68298617	0.998000	0.40836	0.001000	0.08648	0.035000	0.12851	3.419000	0.52728	0.295000	0.22570	0.540000	0.68198	CCG		0.627	PJA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057031.2	NM_145119		17	23	0	0	0	1	0	17	23					A	68381892	G	A	68381892	3	1	305	1	0	0	0	0	1	0	0	0	11961	1116	39	2	745	2	PJA1	23	68381892	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	2968487	68381892	86888668	1128	15645											
ZMYM3	9203	broad.mit.edu	37	chrX	70472963	70472963	+	Frame_Shift_Del	DEL	G	G	-																															ccgaggatggagaagggccaGggggggcccatcctcgagtt																										TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chrX:70472963delG	ENST00000353904.2	-	2	330	c.143delC	c.(142-144)cctfs	p.P48fs	ZMYM3_ENST00000373984.3_Frame_Shift_Del_p.P48fs|ZMYM3_ENST00000373978.1_Frame_Shift_Del_p.P48fs|ZMYM3_ENST00000373998.1_Frame_Shift_Del_p.P48fs|ZMYM3_ENST00000489332.1_5'UTR|ZMYM3_ENST00000373982.1_Frame_Shift_Del_p.P48fs|ZMYM3_ENST00000373981.1_Frame_Shift_Del_p.P48fs|ZMYM3_ENST00000373988.1_Frame_Shift_Del_p.P48fs|ZMYM3_ENST00000314425.5_Frame_Shift_Del_p.P48fs	NM_005096.3	NP_005087.1	Q14202	ZMYM3_HUMAN	zinc finger, MYM-type 3	48					cytoskeleton organization (GO:0007010)|multicellular organismal development (GO:0007275)|regulation of cell morphogenesis (GO:0022604)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(7)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(17)|ovary(1)|prostate(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(35;0.156)					AGAAGGGCCAGGGGGGGCCCA	0.607											OREG0019858	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000373998.1																			0				breast(1)|central_nervous_system(7)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(17)|ovary(1)|prostate(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						c.(142-144)ctfs		zinc finger, MYM-type 3			,,,	26,3567		3,11,9,1516,524	12	13	13		,,,	0.6	1	X		13	38,6326		4,14,16,2310,1692	no	frameshift,frameshift,frameshift,frameshift	ZMYM3	NM_201599.2,NM_005096.3,NM_001171163.1,NM_001171162.1	,,,	7,25,25,3826,2216	A1A1,A1R,A1,RR,R		0.5971,0.7236,0.6428	,,,	,,,	70472963	64,9893	2168	4247	6415	SO:0001589	frameshift_variant	9203				multicellular organismal development	nucleus	DNA binding|zinc ion binding	g.chrX:70472963delG	AB002383	CCDS14409.1, CCDS55443.1, CCDS55444.1	Xq13.1	2013-01-08	2005-12-19	2005-12-19	ENSG00000147130	ENSG00000147130		"Zinc fingers, MYM type"	13054	protein-coding gene	gene with protein product		300061	"zinc finger protein 261"	ZNF261		10486218	Standard	NM_201599		Approved	ZNF198L2, DXS6673E, KIAA0385, MYM	uc004dzh.2	Q14202	OTTHUMG00000021799	ENST00000353904.2:c.143delC	X.37:g.70472963delG	ENSP00000343909:p.Pro48fs		OREG0019858	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1122	ZMYM3_ENST00000489332.1_5'UTR|ZMYM3_ENST00000373982.1_Frame_Shift_Del_p.P48fs|ZMYM3_ENST00000373978.1_Frame_Shift_Del_p.P48fs|ZMYM3_ENST00000314425.5_Frame_Shift_Del_p.P48fs|ZMYM3_ENST00000373988.1_Frame_Shift_Del_p.P48fs|ZMYM3_ENST00000373984.3_Frame_Shift_Del_p.P48fs|ZMYM3_ENST00000353904.2_Frame_Shift_Del_p.P48fs|ZMYM3_ENST00000373981.1_Frame_Shift_Del_p.P48fs	p.P48fs	NM_001171162.1	NP_001164633.1	Q14202	ZMYM3_HUMAN			2	840	-	Renal(35;0.156)		48					D3DVV3|O15089|Q96E26	Frame_Shift_Del	DEL	ENST00000353904.2	37	c.143delC	CCDS14409.1																																																																																				0.607	ZMYM3-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000057154.1	NM_201599		9	6						9	6	---	---	---	---	-	70472963	G	-	70472963	7	5	305	1	0	1	0	1	0	0	0	0	17698	1000	35	0	4083	0	ZMYM3	23	70472963	Frame_Shift_Del	DEL	G	TCGA-KK-A59V-01A-11D-A29Q-08	2091071	70472963	84797597	1129	15646											
TAF1	6872	broad.mit.edu	37	chrX	70613207	70613207	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtgcgcacaatgtcaacagaAcaggctcgttctggagaggg	11	7	14	9	2	2	2	1	0	1	2	3	3	2	2	0	3	3	3	0	3	3	1			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chrX:70613207A>G	ENST00000373790.4	+	21	3156	c.3105A>G	c.(3103-3105)gaA>gaG	p.E1035E	TAF1_ENST00000449580.1_Silent_p.E1035E|TAF1_ENST00000276072.3_Silent_p.E1056E|TAF1_ENST00000423759.1_Silent_p.E1056E	NM_004606.3|NM_138923.2	NP_004597.2|NP_620278.1	P21675	TAF1_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa	1035					cellular response to DNA damage stimulus (GO:0006974)|DNA-templated transcription, initiation (GO:0006352)|gene expression (GO:0010467)|histone acetylation (GO:0016573)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)|protein autophosphorylation (GO:0046777)|regulation of transcription involved in G2/M transition of mitotic cell cycle (GO:0000117)|RNA polymerase II transcriptional preinitiation complex assembly (GO:0051123)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)	ATP binding (GO:0005524)|histone acetyltransferase activity (GO:0004402)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|protein serine/threonine kinase activity (GO:0004674)|sequence-specific DNA binding (GO:0043565)|TBP-class protein binding (GO:0017025)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			breast(13)|central_nervous_system(6)|cervix(1)|endometrium(25)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(16)|lung(34)|ovary(9)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	124	Renal(35;0.156)	all_lung(315;0.000321)				TGTCAACAGAACAGGCTCGTT	0.458																																						ENST00000449580.1																			0				breast(13)|central_nervous_system(6)|cervix(1)|endometrium(25)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(16)|lung(34)|ovary(9)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	124						c.(3103-3105)gaA>gaG		TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa							132	119	124					X																	70613207		2203	4300	6503	SO:0001819	synonymous_variant	6872				G1 phase of mitotic cell cycle|interspecies interaction between organisms|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription initiation from RNA polymerase II promoter|protein autophosphorylation|regulation of transcription involved in G2/M-phase of mitotic cell cycle|RNA polymerase II transcriptional preinitiation complex assembly|transcription elongation from RNA polymerase II promoter|viral reproduction	MLL1 complex|transcription factor TFIID complex	ATP binding|histone acetyl-lysine binding|histone acetyltransferase activity|p53 binding|protein binding|protein serine/threonine kinase activity|sequence-specific DNA binding|TBP-class protein binding|transcription coactivator activity	g.chrX:70613207A>G		CCDS14412.1, CCDS35325.1, CCDS69783.1	Xq13.1	2011-07-01	2002-08-29	2001-12-07	ENSG00000147133	ENSG00000147133		"Chromatin-modifying enzymes / K-acetyltransferases"	11535	protein-coding gene	gene with protein product		313650	"TATA box binding protein (TBP)-associated factor, RNA polymerase II, A, 250kD", "dystonia 3 (with Parkinsonism)"	TAF2A, BA2R, CCG1, CCGS, DYT3		3556424, 12928496, 17952504	Standard	XM_005262295		Approved	NSCL2, TAFII250, KAT4, DYT3/TAF1	uc004dzt.4	P21675	OTTHUMG00000022723	ENST00000373790.4:c.3105A>G	X.37:g.70613207A>G						TAF1_ENST00000276072.3_Silent_p.E1056E|TAF1_ENST00000373790.4_Silent_p.E1035E|TAF1_ENST00000423759.1_Silent_p.E1056E	p.E1035E			P21675	TAF1_HUMAN			21	3156	+	Renal(35;0.156)	all_lung(315;0.000321)	1035					A5CVC8|A5CVC9|A5CVD0|A5CVD1|B1Q2X3|Q59FZ3|Q6IUZ1|Q70Q86|Q70Q87|Q70T00|Q70T01|Q70T02|Q70T03	Silent	SNP	ENST00000373790.4	37	c.3105A>G	CCDS35325.1																																																																																				0.458	TAF1-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058995.2	NM_004606		6	72	0	0	0	1	0	6	72					G	70613207	A	G	70613207	2	3	305	1	0	0	0	0	0	0	0	1	15510	40	2	4		4	TAF1	23	70613207	Silent	SNP	A	TCGA-KK-A59V-01A-11D-A29Q-08	140244	70613207	84657353	1130	15647											
MAGT1	84061	broad.mit.edu	37	chrX	77150899	77150899	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acacaccaaaaccgccaacgCgctgccatgttcgctcctct	10	7	6	18	4	1	0	0	0	1	0	3	0	2	0	5	0	3	3	5	0	3	1			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chrX:77150899C>T	ENST00000373336.3	-	1	38	c.9G>A	c.(7-9)gcG>gcA	p.A3A	MAGT1_ENST00000358075.6_Silent_p.A35A			Q9H0U3	MAGT1_HUMAN	magnesium transporter 1	3					cellular protein metabolic process (GO:0044267)|cognition (GO:0050890)|magnesium ion transport (GO:0015693)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|oligosaccharyltransferase complex (GO:0008250)	magnesium ion transmembrane transporter activity (GO:0015095)			cervix(1)|kidney(2)|large_intestine(3)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	17						ACCGCCAACGCGCTGCCATGT	0.567																																						ENST00000358075.6																			0				cervix(1)|kidney(2)|large_intestine(3)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	17						c.(103-105)gcG>gcA		magnesium transporter 1							133	85	101					X																	77150899		2203	4296	6499	SO:0001819	synonymous_variant	84061				protein N-linked glycosylation via asparagine	integral to membrane|oligosaccharyltransferase complex		g.chrX:77150899C>T		CCDS14436.2	Xq21.1	2014-09-17			ENSG00000102158	ENSG00000102158			28880	protein-coding gene	gene with protein product	"oligosaccharyltransferase 3 homolog B (S. cerevisiae)"	300715				15804357	Standard	NM_032121		Approved	DKFZp564K142, IAP, OST3B, MRX95	uc004fof.3	Q9H0U3	OTTHUMG00000021882	ENST00000373336.3:c.9G>A	X.37:g.77150899C>T						MAGT1_ENST00000373336.3_Silent_p.A3A	p.A35A	NM_032121.5	NP_115497.4	Q9H0U3	MAGT1_HUMAN			1	191	-			3					B2RAR4|D3DTE3|Q53G00|Q6P577|Q8NBN6	Silent	SNP	ENST00000373336.3	37	c.105G>A																																																																																					0.567	MAGT1-002	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000057302.2	NM_032121		16	6	0	0	0	1	0	16	6					T	77150899	C	T	77150899	2	4	305	1	0	0	0	0	0	0	0	1	9196	755	27	1		1	MAGT1	23	77150899	Silent	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	6537692	77150899	78119661	1131	15648											
PCDH19	57526	broad.mit.edu	37	chrX	99662413	99662413	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gctctcatattcctgcagtcGaaagggcacattgcccagca	10	9	9	13	1	1	0	1	0	1	0	4	1	2	0	2	1	3	4	2	1	2	3			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chrX:99662413G>A	ENST00000373034.4	-	1	2858	c.1183C>T	c.(1183-1185)Cga>Tga	p.R395*	PCDH19_ENST00000255531.7_Nonsense_Mutation_p.R395*|PCDH19_ENST00000420881.2_Nonsense_Mutation_p.R395*	NM_001184880.1	NP_001171809.1	Q8TAB3	PCD19_HUMAN	protocadherin 19	395	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.R395*(1)		breast(5)|endometrium(11)|kidney(1)|large_intestine(14)|liver(1)|lung(23)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	68						TCCTGCAGTCGAAAGGGCACA	0.607																																						ENST00000373034.4																			1	Substitution - Nonsense(1)	p.R395*(1)	prostate(1)	breast(5)|endometrium(11)|kidney(1)|large_intestine(14)|liver(1)|lung(23)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	68						c.(1183-1185)Cga>Tga		protocadherin 19							83	82	83					X																	99662413		2172	4239	6411	SO:0001587	stop_gained	57526				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chrX:99662413G>A	AB037734	CCDS43976.1, CCDS48141.1, CCDS55462.1	Xq22.1	2014-06-28			ENSG00000165194	ENSG00000165194		"Cadherins / Protocadherins : Non-clustered"	14270	protein-coding gene	gene with protein product		300460	"epilepsy, female restricted, with mental retardation (Juberg-Hellman syndrome)"	EFMR		11549318, 18469813, 19752159	Standard	NM_020766		Approved	KIAA1313, EIEE9	uc010nmz.3	Q8TAB3	OTTHUMG00000022000	ENST00000373034.4:c.1183C>T	X.37:g.99662413G>A	ENSP00000362125:p.Arg395*					PCDH19_ENST00000255531.7_Nonsense_Mutation_p.R395*|PCDH19_ENST00000420881.2_Nonsense_Mutation_p.R395*	p.R395*	NM_001184880.1	NP_001171809.1	Q8TAB3	PCD19_HUMAN			1	2858	-			395			Cadherin 4.		B0LDS4|E9PAM6|Q5JTG1|Q5JTG2|Q68DT7|Q9P2N3	Nonsense_Mutation	SNP	ENST00000373034.4	37	c.1183C>T	CCDS55462.1	.	.	.	.	.	.	.	.	.	.	G	37	6.311619	0.97462	.	.	ENSG00000165194	ENST00000420881;ENST00000373034;ENST00000255531	.	.	.	5.95	0.891	0.19224	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.19590	T	0.45	.	16.8526	0.85998	0.0:0.0:0.3244:0.6756	.	.	.	.	X	395	.	ENSP00000255531:R395X	R	-	1	2	PCDH19	99549069	1.000000	0.71417	0.977000	0.42913	0.960000	0.62799	1.373000	0.34272	-0.273000	0.09246	-0.371000	0.07208	CGA		0.607	PCDH19-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057479.2	NM_020766		39	48	0	0	0	1	0	39	48					A	99662413	G	A	99662413	4	1	305	1	0	0	0	0	0	1	0	0	11514	1066	37	2	2287	2	PCDH19	23	99662413	Nonsense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	22511514	99662413	55608147	1132	15649											
TAF7L	54457	broad.mit.edu	37	chrX	100532632	100532632	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcttgtggctgctcattcccGaggatatcaaaaatcctggg	9	11	11	10	1	2	0	2	0	0	0	4	2	4	1	2	3	1	3	2	3	3	3	rs371127896		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chrX:100532632G>A	ENST00000372907.3	-	9	922	c.911C>T	c.(910-912)tCg>tTg	p.S304L	TAF7L_ENST00000356784.1_Missense_Mutation_p.S218L|TAF7L_ENST00000372905.2_Missense_Mutation_p.S218L|TAF7L_ENST00000324762.6_Missense_Mutation_p.S218L	NM_024885.3	NP_079161.3	Q5H9L4	TAF7L_HUMAN	TAF7-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 50kDa	304					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|transcription factor TFIID complex (GO:0005669)				NS(1)|breast(4)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	29						GCTCATTCCCGAGGATATCAA	0.468																																					Ovarian(104;431 1530 3210 15406 18594)	ENST00000372907.3																			0				NS(1)|breast(4)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	29						c.(910-912)tCg>tTg		TAF7-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 50kDa			LEU/SER,LEU/SER	0,3835		0,0,1632,571	178	168	172		653,911	3.3	0	X		172	1,6727		0,1,2427,1872	no	missense,missense	TAF7L	NM_001168474.1,NM_024885.3	145,145	0,1,4059,2443	AA,AG,GG,G		0.0149,0.0,0.0095	possibly-damaging,possibly-damaging	218/377,304/463	100532632	1,10562	2203	4300	6503	SO:0001583	missense	54457				cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|spermatogenesis|transcription initiation from RNA polymerase II promoter	cytoplasm|transcription factor TFIID complex	binding	g.chrX:100532632G>A	AF285595	CCDS35347.1, CCDS55466.1	Xq22.1	2009-03-25	2002-08-29	2001-12-07	ENSG00000102387	ENSG00000102387			11548	protein-coding gene	gene with protein product	"cancer/testis antigen 40"	300314	"TATA box binding protein (TBP)-associated factor, RNA polymerase II, Q"	TAF2Q		11279525	Standard	NM_024885		Approved	CT40	uc004ehb.3	Q5H9L4	OTTHUMG00000022021	ENST00000372907.3:c.911C>T	X.37:g.100532632G>A	ENSP00000361998:p.Ser304Leu					TAF7L_ENST00000372905.2_Missense_Mutation_p.S218L|TAF7L_ENST00000324762.6_Missense_Mutation_p.S218L|TAF7L_ENST00000356784.1_Missense_Mutation_p.S218L	p.S304L	NM_024885.3	NP_079161.3	Q5H9L4	TAF7L_HUMAN			9	922	-			304					Q5H9L6|Q86XI4|Q9BXU5|Q9H5R0	Missense_Mutation	SNP	ENST00000372907.3	37	c.911C>T	CCDS35347.1	.	.	.	.	.	.	.	.	.	.	g	18.30	3.592688	0.66219	0.0	1.49E-4	ENSG00000102387	ENST00000372907;ENST00000372905;ENST00000324762;ENST00000356784	T;T;T;T	0.24151	3.64;1.87;1.87;3.01	5.18	3.34	0.38264	.	1.085220	0.07169	N	0.851966	T	0.25644	0.0624	M	0.61703	1.905	0.22989	N	0.998469	P;B	0.48640	0.913;0.196	B;B	0.36378	0.223;0.019	T	0.19844	-1.0293	10	0.41790	T	0.15	1.7691	9.3284	0.38008	0.078:0.0:0.7777:0.1443	.	304;218	Q5H9L4;Q5H9L4-3	TAF7L_HUMAN;.	L	304;218;218;218	ENSP00000361998:S304L;ENSP00000361996:S218L;ENSP00000320283:S218L;ENSP00000349235:S218L	ENSP00000320283:S218L	S	-	2	0	TAF7L	100419288	1.000000	0.71417	0.003000	0.11579	0.017000	0.09413	3.639000	0.54339	0.447000	0.26695	0.597000	0.82753	TCG		0.468	TAF7L-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057526.2			5	133	0	0	0	1	0	5	133					A	100532632	G	A	100532632	3	1	305	1	0	0	0	0	1	0	0	0	15530	1059	37	2	497	2	TAF7L	23	100532632	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	870219	100532632	54737928	1133	15650											
TAF7L	54457	broad.mit.edu	37	chrX	100538467	100538467	+	Frame_Shift_Del	DEL	T	T	-																															gtctgctgttttataaaaggTttttttatcaagcgttctca																										TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chrX:100538467delT	ENST00000372907.3	-	4	519	c.508delA	c.(508-510)accfs	p.T170fs	TAF7L_ENST00000356784.1_Frame_Shift_Del_p.T84fs|TAF7L_ENST00000372905.2_Frame_Shift_Del_p.T84fs|TAF7L_ENST00000324762.6_Frame_Shift_Del_p.T84fs	NM_024885.3	NP_079161.3	Q5H9L4	TAF7L_HUMAN	TAF7-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 50kDa	170					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|transcription factor TFIID complex (GO:0005669)				NS(1)|breast(4)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	29						TTATAAAAGGTTTTTTTATCA	0.393																																					Ovarian(104;431 1530 3210 15406 18594)	ENST00000372907.3																			0				NS(1)|breast(4)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	29						c.(508-510)ccfs		TAF7-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 50kDa							156	156	156					X																	100538467		2203	4300	6503	SO:0001589	frameshift_variant	54457				cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|spermatogenesis|transcription initiation from RNA polymerase II promoter	cytoplasm|transcription factor TFIID complex	binding	g.chrX:100538467delT	AF285595	CCDS35347.1, CCDS55466.1	Xq22.1	2009-03-25	2002-08-29	2001-12-07	ENSG00000102387	ENSG00000102387			11548	protein-coding gene	gene with protein product	"cancer/testis antigen 40"	300314	"TATA box binding protein (TBP)-associated factor, RNA polymerase II, Q"	TAF2Q		11279525	Standard	NM_024885		Approved	CT40	uc004ehb.3	Q5H9L4	OTTHUMG00000022021	ENST00000372907.3:c.508delA	X.37:g.100538467delT	ENSP00000361998:p.Thr170fs					TAF7L_ENST00000356784.1_Frame_Shift_Del_p.T84fs|TAF7L_ENST00000324762.6_Frame_Shift_Del_p.T84fs|TAF7L_ENST00000372905.2_Frame_Shift_Del_p.T84fs	p.T170fs	NM_024885.3	NP_079161.3	Q5H9L4	TAF7L_HUMAN			4	519	-			170					Q5H9L6|Q86XI4|Q9BXU5|Q9H5R0	Frame_Shift_Del	DEL	ENST00000372907.3	37	c.508delA	CCDS35347.1																																																																																				0.393	TAF7L-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057526.2			7	137						7	137	---	---	---	---	-	100538467	T	-	100538467	7	5	305	1	0	1	0	1	0	0	0	0	15530	1725	60	0	920	0	TAF7L	23	100538467	Frame_Shift_Del	DEL	T	TCGA-KK-A59V-01A-11D-A29Q-08	5835	100538467	54732093	1134	15651											
MCART6	401612	broad.mit.edu	37	chrX	103349173	103349173	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccccgagtgttccatacatcCtgggcagaggcccacaggct	8	7	11	15	1	0	1	0	0	0	1	2	2	2	1	5	3	1	3	5	3	1	2			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chrX:103349173C>A	ENST00000357421.4	-	2	948	c.768G>T	c.(766-768)caG>caT	p.Q256H		NM_001012755.3	NP_001012773.2	Q5H9E4	S2553_HUMAN	solute carrier family 25, member 53	256					transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)											TCCATACATCCTGGGCAGAGG	0.542																																						ENST00000357421.4																			0											c.(766-768)caG>caT		solute carrier family 25, member 53							55	46	49					X																	103349173		2203	4300	6503	SO:0001583	missense	401612				transport	integral to membrane|mitochondrial inner membrane		g.chrX:103349173C>A		CCDS35363.1	Xq22.2	2013-05-22	2012-03-29	2012-03-29	ENSG00000176274	ENSG00000269743		"Solute carriers"	31894	protein-coding gene	gene with protein product			"mitochondrial carrier triple repeat 6"	MCART6			Standard	NM_001012755		Approved		uc004elu.3	Q5H9E4	OTTHUMG00000022124	ENST00000357421.4:c.768G>T	X.37:g.103349173C>A	ENSP00000361681:p.Gln256His						p.Q256H	NM_001012755.3	NP_001012773.2	Q5H9E4	MCAR6_HUMAN			2	948	-			256					B2RTT9	Missense_Mutation	SNP	ENST00000357421.4	37	c.768G>T	CCDS35363.1	.	.	.	.	.	.	.	.	.	.	c	0.959	-0.704018	0.03255	.	.	ENSG00000176274	ENST00000357421	T	0.79141	-1.24	4.03	0.179	0.15063	Mitochondrial carrier domain (2);	0.311265	0.26163	N	0.025972	T	0.62684	0.2448	L	0.38175	1.15	0.09310	N	1	B	0.18166	0.026	B	0.13407	0.009	T	0.47774	-0.9091	10	0.32370	T	0.25	-29.3455	7.3691	0.26792	0.0:0.5704:0.0:0.4296	.	256	Q5H9E4	MCAR6_HUMAN	H	256	ENSP00000361681:Q256H	ENSP00000361681:Q256H	Q	-	3	2	MCART6	103235829	0.006000	0.16342	0.003000	0.11579	0.009000	0.06853	1.162000	0.31786	-0.229000	0.09854	-0.896000	0.02909	CAG		0.542	SLC25A53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057761.1	NM_001012755		21	20	1	0	8.10497e-08	1	8.35994e-08	21	20					A	103349173	C	A	103349173	3	1	305	1	0	0	0	0	1	0	0	0	9371	680	24	5	159	5	MCART6	23	103349173	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	2810706	103349173	51921387	1135	15652											
TEX13A	56157	broad.mit.edu	37	chrX	104464233	104464233	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	catgggggcagccccagcctCcacagggggagccatggcct	7	4	15	15	0	0	0	0	0	0	0	1	1	1	1	6	5	3	1	6	5	0	0			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chrX:104464233C>A	ENST00000413579.1	-	5	754	c.643G>T	c.(643-645)Gag>Tag	p.E215*	TEX13A_ENST00000372575.1_Missense_Mutation_p.W215C|IL1RAPL2_ENST00000372582.1_Intron|TEX13A_ENST00000372578.3_Missense_Mutation_p.W215C|IL1RAPL2_ENST00000344799.4_Intron			Q9BXU3	TX13A_HUMAN	testis expressed 13A	215							zinc ion binding (GO:0008270)			large_intestine(5)|ovary(2)|upper_aerodigestive_tract(1)	8						GCCCCAGCCTCCACAGGGGGA	0.637																																						ENST00000413579.1																			0				large_intestine(5)|ovary(2)|upper_aerodigestive_tract(1)	8						c.(643-645)Gag>Tag		testis expressed 13A							18	21	20					X																	104464233		2043	4137	6180	SO:0001587	stop_gained	56157					intracellular	zinc ion binding	g.chrX:104464233C>A	AF285597	CCDS76005.1	Xq28	2012-04-20	2007-03-13		ENSG00000133149	ENSG00000268629			11735	protein-coding gene	gene with protein product		300312	"testis expressed sequence 13A"			11279525	Standard	NM_031274		Approved		uc004ema.3	Q9BXU3	OTTHUMG00000022133	ENST00000413579.1:c.643G>T	X.37:g.104464233C>A	ENSP00000399753:p.Glu215*					TEX13A_ENST00000372578.3_Missense_Mutation_p.W215C|IL1RAPL2_ENST00000372582.1_Intron|IL1RAPL2_ENST00000344799.4_Intron|TEX13A_ENST00000372575.1_Missense_Mutation_p.W215C	p.E215*			Q9BXU3	TX13A_HUMAN			5	754	-			215					B1B1G8|Q32NB6	Nonsense_Mutation	SNP	ENST00000413579.1	37	c.643G>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.66|11.66	1.705551|1.705551	0.30232|0.30232	.|.	.|.	ENSG00000133149|ENSG00000133149	ENST00000413579|ENST00000372578;ENST00000372575	.|.	.|.	.|.	1.0|1.0	-2.0|-2.0	0.07433|0.07433	.|.	.|.	.|.	.|.	.|.	.|T	.|0.53367	.|0.1792	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.51521	.|-0.8695	.|5	0.06236|0.59425	T|D	0.91|0.04	.|.	2.5253|2.5253	0.04689|0.04689	0.0:0.4296:0.3093:0.2612|0.0:0.4296:0.3093:0.2612	.|.	.|.	.|.	.|.	X|C	215|215	.|.	ENSP00000399753:E215X|ENSP00000361656:W215C	E|W	-|-	1|3	0|0	TEX13A|TEX13A	104350889|104350889	0.001000|0.001000	0.12720|0.12720	0.002000|0.002000	0.10522|0.10522	0.008000|0.008000	0.06430|0.06430	-1.336000|-1.336000	0.02660|0.02660	-0.838000|-0.838000	0.04218|0.04218	-0.422000|-0.422000	0.05995|0.05995	GAG|TGG		0.637	TEX13A-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_031274		17	9	1	0	4.14922e-12	1	4.32094e-12	17	9					A	104464233	C	A	104464233	4	1	305	1	0	0	0	0	0	1	0	0	15773	856	30	5	590	5	TEX13A	23	104464233	Nonsense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	1115060	104464233	50806327	1136	15653											
OCRL	4952	broad.mit.edu	37	chrX	128723862	128723862	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atgccatagaaatgttttccGttacttgatggcattccttc	9	16	7	9	1	0	2	0	1	0	1	3	2	2	2	3	1	2	3	3	1	3	7			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chrX:128723862G>A	ENST00000371113.4	+	23	2675	c.2510G>A	c.(2509-2511)cGt>cAt	p.R837H	OCRL_ENST00000357121.5_Missense_Mutation_p.R829H	NM_000276.3	NP_000267.2	Q01968	OCRL_HUMAN	oculocerebrorenal syndrome of Lowe	837	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				cilium assembly (GO:0042384)|in utero embryonic development (GO:0001701)|inositol phosphate metabolic process (GO:0043647)|lipid metabolic process (GO:0006629)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|positive regulation of Rac GTPase activity (GO:0032855)|regulation of Rac GTPase activity (GO:0032314)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|Golgi stack (GO:0005795)|Golgi-associated vesicle (GO:0005798)|nucleus (GO:0005634)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	inositol phosphate phosphatase activity (GO:0052745)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)|Rac GTPase activator activity (GO:0030675)|Rac GTPase binding (GO:0048365)			breast(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(24)|ovary(2)|upper_aerodigestive_tract(3)	48						AATGTTTTCCGTTACTTGATG	0.433																																						ENST00000371113.4																			0				breast(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(24)|ovary(2)|upper_aerodigestive_tract(3)	48						c.(2509-2511)cGt>cAt		oculocerebrorenal syndrome of Lowe							128	113	118					X																	128723862		2203	4300	6503	SO:0001583	missense	4952				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	clathrin-coated vesicle|cytosol|early endosome|Golgi stack|Golgi-associated vesicle	GTPase activator activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|protein binding	g.chrX:128723862G>A	U57627	CCDS35393.1, CCDS35394.1	Xq25	2014-06-18			ENSG00000122126	ENSG00000122126			8108	protein-coding gene	gene with protein product		300535					Standard	NM_001587		Approved	OCRL1	uc004euq.3	Q01968	OTTHUMG00000022706	ENST00000371113.4:c.2510G>A	X.37:g.128723862G>A	ENSP00000360154:p.Arg837His					OCRL_ENST00000357121.5_Missense_Mutation_p.R829H	p.R837H	NM_000276.3	NP_000267.2	Q01968	OCRL_HUMAN			23	2675	+			837			Rho-GAP.		A6NKI1|A8KAP2|B7ZLX2|O60800|Q15684|Q15774|Q4VY09|Q4VY10|Q5JQF1|Q5JQF2|Q9UJG5|Q9UMA5	Missense_Mutation	SNP	ENST00000371113.4	37	c.2510G>A	CCDS35393.1	.	.	.	.	.	.	.	.	.	.	G	13.51	2.258394	0.39896	.	.	ENSG00000122126	ENST00000371113;ENST00000357121	T;T	0.21191	2.02;2.02	5.65	4.76	0.60689	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	0.055023	0.85682	N	0.000000	T	0.32704	0.0838	L	0.39020	1.185	0.80722	D	1	D;P	0.89917	1.0;0.657	D;B	0.69824	0.966;0.233	T	0.02126	-1.1209	10	0.28530	T	0.3	.	12.0083	0.53272	0.0883:0.0:0.9117:0.0	.	829;837	Q01968-2;Q01968	.;OCRL_HUMAN	H	837;829	ENSP00000360154:R837H;ENSP00000349635:R829H	ENSP00000349635:R829H	R	+	2	0	OCRL	128551543	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.606000	0.67641	1.084000	0.41184	0.600000	0.82982	CGT		0.433	OCRL-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058917.1	NM_000276		26	30	0	0	0	1	0	26	30					A	128723862	G	A	128723862	3	1	305	1	0	0	0	0	1	0	0	0	10823	1145	40	1	2600	1	OCRL	23	128723862	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	24259629	128723862	26546698	1137	15654											
ZNF280C	55609	broad.mit.edu	37	chrX	129370543	129370543	+	Frame_Shift_Del	DEL	T	T	-																															acatcttcactggtctttggTttttttggagtaacactgtt																										TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chrX:129370543delT	ENST00000370978.4	-	7	717	c.564delA	c.(562-564)aaafs	p.K188fs		NM_017666.4	NP_060136.1	Q8ND82	Z280C_HUMAN	zinc finger protein 280C	188	Ser-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|kidney(4)|large_intestine(9)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	26						TGGTCTTTGGTTTTTTTGGAG	0.358																																						ENST00000370978.4																			0				endometrium(3)|kidney(4)|large_intestine(9)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	26						c.(562-564)aafs		zinc finger protein 280C							140	115	124					X																	129370543		2203	4300	6503	SO:0001589	frameshift_variant	55609				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chrX:129370543delT	AL834333	CCDS14622.1	Xq25	2008-05-02	2007-09-20	2007-09-20	ENSG00000056277	ENSG00000056277			25955	protein-coding gene	gene with protein product			"suppressor of hairy wing homolog 3 (Drosophila)"	SUHW3		12477932	Standard	NM_017666		Approved	FLJ20095, ZNF633	uc004evm.3	Q8ND82	OTTHUMG00000022393	ENST00000370978.4:c.564delA	X.37:g.129370543delT	ENSP00000360017:p.Lys188fs						p.K188fs	NM_017666.4	NP_060136.1	Q8ND82	Z280C_HUMAN			7	717	-			188			Ser-rich.		A8K2V8|Q9NXR3	Frame_Shift_Del	DEL	ENST00000370978.4	37	c.564delA	CCDS14622.1																																																																																				0.358	ZNF280C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058251.1	NM_017666		9	51						9	51	---	---	---	---	-	129370543	T	-	129370543	7	5	305	1	0	1	0	1	0	0	0	0	17813	1722	60	0	1701	0	ZNF280C	23	129370543	Frame_Shift_Del	DEL	T	TCGA-KK-A59V-01A-11D-A29Q-08	646681	129370543	25900017	1138	15655											
MTM1	4534	broad.mit.edu	37	chrX	149831996	149831996	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tctatactaaagaaatcaatCgagttttatatccagttgcc	14	14	5	8	1	2	1	1	0	1	1	4	2	3	1	2	0	2	2	2	0	8	7	rs398123271		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chrX:149831996C>T	ENST00000370396.2	+	14	1612	c.1558C>T	c.(1558-1560)Cga>Tga	p.R520*	MTM1_ENST00000542741.1_3'UTR|MTM1_ENST00000543350.1_Nonsense_Mutation_p.R405*|MTM1_ENST00000306167.7_3'UTR|MTM1_ENST00000413012.2_Nonsense_Mutation_p.R483*	NM_000252.2	NP_000243.1	Q13496	MTM1_HUMAN	myotubularin 1	520	Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}.				endosome to lysosome transport (GO:0008333)|intermediate filament organization (GO:0045109)|mitochondrion distribution (GO:0048311)|mitochondrion morphogenesis (GO:0070584)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|protein dephosphorylation (GO:0006470)|protein transport (GO:0015031)|regulation of vacuole organization (GO:0044088)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|late endosome (GO:0005770)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	intermediate filament binding (GO:0019215)|phosphatidylinositol binding (GO:0035091)|phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity (GO:0052629)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Acute lymphoblastic leukemia(192;6.56e-05)					AGAAATCAATCGAGTTTTATA	0.373																																						ENST00000370396.2																			0				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	GRCh37	CM001733	MTM1	M		c.(1558-1560)Cga>Tga		myotubularin 1							73	65	68					X																	149831996		2203	4300	6503	SO:0001587	stop_gained	4534				endosome to lysosome transport|intermediate filament organization|mitochondrion distribution|mitochondrion morphogenesis|phosphatidylinositol dephosphorylation|protein transport|regulation of vacuole organization	filopodium|late endosome|plasma membrane|ruffle	intermediate filament binding|phosphatidylinositol binding|phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein tyrosine phosphatase activity	g.chrX:149831996C>T	U46024	CCDS14694.1	Xq27.3-q28	2014-09-17			ENSG00000171100	ENSG00000171100		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"	7448	protein-coding gene	gene with protein product		300415	"myotubular myopathy 1"				Standard	NM_000252		Approved		uc004fef.4	Q13496	OTTHUMG00000024158	ENST00000370396.2:c.1558C>T	X.37:g.149831996C>T	ENSP00000359423:p.Arg520*					MTM1_ENST00000543350.1_Nonsense_Mutation_p.R405*|MTM1_ENST00000413012.2_Nonsense_Mutation_p.R483*|MTM1_ENST00000542741.1_3'UTR|MTM1_ENST00000306167.7_3'UTR	p.R520*	NM_000252.2	NP_000243.1	Q13496	MTM1_HUMAN			14	1612	+	Acute lymphoblastic leukemia(192;6.56e-05)		520			Myotubularin phosphatase.		A6NDB1|B7Z491|F2Z330|Q8NEL1	Nonsense_Mutation	SNP	ENST00000370396.2	37	c.1558C>T	CCDS14694.1	.	.	.	.	.	.	.	.	.	.	C	38	7.057119	0.98032	.	.	ENSG00000171100	ENST00000370396;ENST00000543350;ENST00000413012	.	.	.	5.39	5.39	0.77823	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.15499	T	0.54	.	18.2301	0.89933	0.0:1.0:0.0:0.0	.	.	.	.	X	520;405;483	.	ENSP00000359423:R520X	R	+	1	2	MTM1	149582654	1.000000	0.71417	0.995000	0.50966	0.994000	0.84299	3.390000	0.52523	2.242000	0.73789	0.513000	0.50165	CGA		0.373	MTM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060847.3	NM_000252		8	33	0	0	0	1	0	8	33					T	149831996	C	T	149831996	4	4	305	1	0	0	0	0	0	1	0	0	9937	876	31	2	1608	2	MTM1	23	149831996	Nonsense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	20461453	149831996	5438564	1139	15656											
PNCK	139728	broad.mit.edu	37	chrX	152937471	152937471	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caaacagctcgccacccgtcAccctgggggtgccaggggtt	7	6	13	15	2	1	0	1	0	0	0	2	0	1	0	4	4	3	2	4	4	1	1			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chrX:152937471A>G	ENST00000370150.1	-	5	456	c.278T>C	c.(277-279)gTg>gCg	p.V93A	PNCK_ENST00000340888.3_Missense_Mutation_p.V93A|PNCK_ENST00000370145.4_Missense_Mutation_p.V110A|PNCK_ENST00000447676.2_Missense_Mutation_p.V176A|PNCK_ENST00000475172.1_5'UTR|PNCK_ENST00000370142.1_Missense_Mutation_p.V93A|PNCK_ENST00000393831.2_Missense_Mutation_p.V93A			Q6P2M8	KCC1B_HUMAN	pregnancy up-regulated nonubiquitous CaM kinase	93	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.					cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)			breast(2)|lung(3)|skin(1)	6	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GCCACCCGTCACCCTGGGGGT	0.667																																						ENST00000393831.2																			0				breast(2)|lung(3)|skin(1)	6						c.(277-279)gTg>gCg		pregnancy up-regulated nonubiquitous CaM kinase							39	34	36					X																	152937471		2203	4299	6502	SO:0001583	missense	139728					cytoplasm|nucleus	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity	g.chrX:152937471A>G	BC033746	CCDS35503.2, CCDS48189.1	Xq28	2013-10-14	2013-10-14		ENSG00000130822	ENSG00000130822			13415	protein-coding gene	gene with protein product		300680	"pregnancy upregulated non-ubiquitously expressed CaM kinase", "pregnancy up-regulated non-ubiquitously expressed CaM kinase"			12477932	Standard	NM_001039582		Approved	MGC45419, CaMK1b	uc011myu.2	Q6P2M8	OTTHUMG00000024216	ENST00000370150.1:c.278T>C	X.37:g.152937471A>G	ENSP00000359169:p.Val93Ala					PNCK_ENST00000447676.2_Missense_Mutation_p.V176A|PNCK_ENST00000370142.1_Missense_Mutation_p.V93A|PNCK_ENST00000475172.1_5'UTR|PNCK_ENST00000340888.3_Missense_Mutation_p.V93A|PNCK_ENST00000370145.4_Missense_Mutation_p.V110A|PNCK_ENST00000370150.1_Missense_Mutation_p.V93A	p.V93A	NM_001039582.3	NP_001034671.3	Q6P2M8	KCC1B_HUMAN			5	712	-	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		93			Protein kinase.		B4DJR8|B4E1A6|B7WPG0|D3DWU7|Q8N4R0	Missense_Mutation	SNP	ENST00000370150.1	37	c.278T>C		.	.	.	.	.	.	.	.	.	.	a	18.26	3.584022	0.65992	.	.	ENSG00000130822	ENST00000340888;ENST00000370150;ENST00000393831;ENST00000370142;ENST00000370145;ENST00000447676;ENST00000439087;ENST00000422811	T;T;T;T;T;T;T;T	0.25250	1.81;1.81;1.81;1.81;1.81;1.81;1.81;1.81	5.01	5.01	0.66863	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.49916	D	0.000135	T	0.24624	0.0597	N	0.03294	-0.36	0.54753	D	0.99998	D;D;D;D	0.69078	0.997;0.992;0.993;0.993	D;P;P;P	0.77557	0.99;0.857;0.882;0.882	T	0.24548	-1.0157	10	0.17369	T	0.5	-23.9266	12.7717	0.57426	1.0:0.0:0.0:0.0	.	120;176;110;93	B4DJG4;Q6P2M8-5;B4E1A6;Q6P2M8	.;.;.;KCC1B_HUMAN	A	93;93;93;93;110;176;93;93	ENSP00000340586:V93A;ENSP00000359169:V93A;ENSP00000377417:V93A;ENSP00000359161:V93A;ENSP00000359164:V110A;ENSP00000405950:V176A;ENSP00000415770:V93A;ENSP00000391772:V93A	ENSP00000340586:V93A	V	-	2	0	PNCK	152590665	1.000000	0.71417	0.992000	0.48379	0.929000	0.56500	9.143000	0.94623	1.653000	0.50694	0.430000	0.28490	GTG		0.667	PNCK-001	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000061044.2	NM_198452		3	26	0	0	0	1	0	3	26					G	152937471	A	G	152937471	3	3	305	1	0	0	0	0	1	0	0	0	12145	159	6	4	781	4	PNCK	23	152937471	Missense_Mutation	SNP	A	TCGA-KK-A59V-01A-11D-A29Q-08	3105475	152937471	2333089	1140	15657											
L1CAM	3897	broad.mit.edu	37	chrX	153132319	153132319	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gggcgttccagtccatccacCggagcggctggaggaggcca	7	5	16	13	3	0	0	0	0	0	0	3	3	3	3	5	6	1	2	5	6	0	1			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chrX:153132319C>T	ENST00000370060.1	-	19	2405	c.2216G>A	c.(2215-2217)cGg>cAg	p.R739Q	L1CAM_ENST00000361981.3_Missense_Mutation_p.R734Q|L1CAM_ENST00000538883.1_Missense_Mutation_p.R741Q|L1CAM_ENST00000543994.1_Missense_Mutation_p.R741Q|L1CAM_ENST00000370055.1_Missense_Mutation_p.R734Q|L1CAM_ENST00000361699.4_Missense_Mutation_p.R739Q|L1CAM_ENST00000370057.3_Missense_Mutation_p.R739Q	NM_001278116.1	NP_001265045.1	P32004	L1CAM_HUMAN	L1 cell adhesion molecule	739	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.		R -> W. {ECO:0000269|PubMed:10797421}.		axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell death (GO:0008219)|cell surface receptor signaling pathway (GO:0007166)|cell-cell adhesion mediated by integrin (GO:0033631)|chemotaxis (GO:0006935)|heterophilic cell-cell adhesion (GO:0007157)|homophilic cell adhesion (GO:0007156)|homotypic cell-cell adhesion (GO:0034109)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|nervous system development (GO:0007399)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of cell-cell adhesion (GO:0022409)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	sialic acid binding (GO:0033691)			NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	81	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GTCCATCCACCGGAGCGGCTG	0.642																																						ENST00000370060.1																			0				NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	81						c.(2215-2217)cGg>cAg		L1 cell adhesion molecule							27	28	28					X																	153132319		2203	4298	6501	SO:0001583	missense	3897				axon guidance|blood coagulation|cell death|leukocyte migration	integral to membrane		g.chrX:153132319C>T	M74387	CCDS14733.1, CCDS14734.1, CCDS48192.1	Xq28	2014-09-17	2003-04-07		ENSG00000198910	ENSG00000198910		"CD molecules", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	6470	protein-coding gene	gene with protein product		308840	"antigen identified by monoclonal antibody R1"	HSAS1, SPG1, HSAS, MASA, MIC5, S10			Standard	NM_001278116		Approved	CD171	uc031tks.1	P32004	OTTHUMG00000024221	ENST00000370060.1:c.2216G>A	X.37:g.153132319C>T	ENSP00000359077:p.Arg739Gln					L1CAM_ENST00000361699.4_Missense_Mutation_p.R739Q|L1CAM_ENST00000543994.1_Missense_Mutation_p.R741Q|L1CAM_ENST00000538883.1_Missense_Mutation_p.R741Q|L1CAM_ENST00000361981.3_Missense_Mutation_p.R734Q|L1CAM_ENST00000370055.1_Missense_Mutation_p.R734Q|L1CAM_ENST00000370057.3_Missense_Mutation_p.R739Q	p.R739Q	NM_001278116.1	NP_001265045.1	P32004	L1CAM_HUMAN			19	2405	-	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		739		R -> W.	Fibronectin type-III 2.		A0AV65|A4ZYW4|B2RMU7|G3XAF4|Q8TA87	Missense_Mutation	SNP	ENST00000370060.1	37	c.2216G>A	CCDS14733.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.90|14.90	2.672440|2.672440	0.47781|0.47781	.|.	.|.	ENSG00000198910|ENSG00000198910	ENST00000455590|ENST00000370060;ENST00000543994;ENST00000370057;ENST00000538883;ENST00000361981;ENST00000370055;ENST00000361699	.|T;T;T;T;T;T;T	.|0.57436	.|0.4;0.4;0.4;0.4;0.4;0.4;0.4	5.43|5.43	-0.522|-0.522	0.11928|0.11928	.|Fibronectin, type III (4);Immunoglobulin-like fold (1);	.|1.050790	.|0.07494	.|N	.|0.906139	T|T	0.30198|0.30198	0.0757|0.0757	N|N	0.08118|0.08118	0|0	0.09310|0.09310	N|N	1|1	.|B;B;B	.|0.20368	.|0.035;0.006;0.044	.|B;B;B	.|0.13407	.|0.005;0.002;0.009	T|T	0.18840|0.18840	-1.0324|-1.0324	5|10	.|0.40728	.|T	.|0.16	.|.	7.4448|7.4448	0.27205|0.27205	0.138:0.1555:0.0:0.7065|0.138:0.1555:0.0:0.7065	.|.	.|734;739;739	.|G3XAF4;P32004-2;P32004	.|.;.;L1CAM_HUMAN	S|Q	160|739;741;739;741;734;734;739	.|ENSP00000359077:R739Q;ENSP00000438430:R741Q;ENSP00000359074:R739Q;ENSP00000439645:R741Q;ENSP00000354712:R734Q;ENSP00000359072:R734Q;ENSP00000355380:R739Q	.|ENSP00000355380:R739Q	G|R	-|-	1|2	0|0	L1CAM|L1CAM	152785513|152785513	0.000000|0.000000	0.05858|0.05858	0.022000|0.022000	0.16811|0.16811	0.846000|0.846000	0.48090|0.48090	-0.292000|-0.292000	0.08332|0.08332	-0.383000|-0.383000	0.07858|0.07858	0.529000|0.529000	0.55759|0.55759	GGT|CGG		0.642	L1CAM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000061094.2	NM_024003		24	10	0	0	0	1	0	24	10					T	153132319	C	T	153132319	3	4	305	1	0	0	0	0	1	0	0	0	8588	652	23	2	1601	2	L1CAM	23	153132319	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	194848	153132319	2138241	1141	15658											
FLNA	2316	broad.mit.edu	37	chrX	153587696	153587696	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tactcgaccgagcagctgccGtccttgttatccatgcagga	8	10	10	13	3	0	0	0	0	0	0	3	3	2	1	4	1	5	4	4	1	2	3	rs372110377		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chrX:153587696G>A	ENST00000369850.3	-	25	4457	c.4221C>T	c.(4219-4221)gaC>gaT	p.D1407D	FLNA_ENST00000360319.4_Silent_p.D1407D|FLNA_ENST00000369856.3_5'Flank|FLNA_ENST00000422373.1_Silent_p.D1407D|FLNA_ENST00000344736.4_Silent_p.D1407D	NM_001110556.1	NP_001104026.1	P21333	FLNA_HUMAN	filamin A, alpha	1407					actin crosslink formation (GO:0051764)|actin cytoskeleton reorganization (GO:0031532)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|blood coagulation (GO:0007596)|cell junction assembly (GO:0034329)|cilium assembly (GO:0042384)|cytoplasmic sequestering of protein (GO:0051220)|early endosome to late endosome transport (GO:0045022)|epithelial to mesenchymal transition (GO:0001837)|establishment of protein localization (GO:0045184)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of transcription factor import into nucleus (GO:0042993)|protein localization to cell surface (GO:0034394)|protein stabilization (GO:0050821)|receptor clustering (GO:0043113)|spindle assembly involved in mitosis (GO:0090307)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|apical dendrite (GO:0097440)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|Myb complex (GO:0031523)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	actin filament binding (GO:0051015)|Fc-gamma receptor I complex binding (GO:0034988)|glycoprotein binding (GO:0001948)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|Rac GTPase binding (GO:0048365)|Ral GTPase binding (GO:0017160)|Rho GTPase binding (GO:0017048)|signal transducer activity (GO:0004871)|small GTPase binding (GO:0031267)|transcription factor binding (GO:0008134)			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					AGCAGCTGCCGTCCTTGTTAT	0.632																																						ENST00000422373.1																			0				breast(6)	6						c.(4219-4221)gaC>gaT		filamin A, alpha							60	68	66					X																	153587696		2087	4194	6281	SO:0001819	synonymous_variant	0				actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding	g.chrX:153587696G>A	X70082	CCDS44021.1, CCDS48194.1	Xq28	2009-07-23	2009-07-23		ENSG00000196924	ENSG00000196924			3754	protein-coding gene	gene with protein product	"actin binding protein 280"	300017	"filamin A, alpha (actin binding protein 280)"	FLN1, FLN, OPD2, OPD1		8406501, 12612583	Standard	NM_001456		Approved	ABP-280	uc004fkk.2	P21333	OTTHUMG00000022712	ENST00000369850.3:c.4221C>T	X.37:g.153587696G>A						FLNA_ENST00000344736.4_Silent_p.D1407D|FLNA_ENST00000369850.3_Silent_p.D1407D|FLNA_ENST00000360319.4_Silent_p.D1407D	p.D1407D	NM_001456.3	NP_001447.2	P21333	FLNA_HUMAN			25	4469	-	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)		1407					E9KL45|Q5HY53|Q5HY55|Q8NF52	Silent	SNP	ENST00000369850.3	37	c.4221C>T	CCDS48194.1																																																																																				0.632	FLNA-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058942.3			5	107	0	0	0	1	0	5	107					A	153587696	G	A	153587696	2	1	305	1	0	0	0	0	0	0	0	1	5933	1136	40	1		1	FLNA	23	153587696	Silent	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	455377	153587696	1682864	1142	15659											
USP24	23358	broad.mit.edu	37	chr1	55538531	55538532	+	Frame_Shift_Del	DEL	AC	AC	-																															aagtactccttagctgcaggAcacctgatgaccgaggagat																										TCGA-KK-A59X-01A-11D-A29Q-08	TCGA-KK-A59X-11A-21D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f555699-002c-43d7-b5ef-22deebbae2a5	2e17d22b-df41-4ea2-afd3-edce529c9a20	g.chr1:55538531_55538532delAC	ENST00000294383.6	-	65	7528_7529	c.7529_7530delGT	c.(7528-7530)tgtfs	p.C2510fs	USP24_ENST00000407756.1_Frame_Shift_Del_p.C2350fs|USP24_ENST00000484447.1_5'UTR	NM_015306.2	NP_056121.2	Q9UPU5	UBP24_HUMAN	ubiquitin specific peptidase 24	2510					ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type peptidase activity (GO:0008234)|ubiquitinyl hydrolase activity (GO:0036459)			breast(4)|cervix(1)|endometrium(8)|kidney(13)|large_intestine(7)|lung(16)|ovary(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	60						TAGCTGCAGGACACCTGATGAC	0.406																																						ENST00000294383.6																			0				breast(4)|cervix(1)|endometrium(8)|kidney(13)|large_intestine(7)|lung(16)|ovary(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	60						c.(7528-7530)tfs		ubiquitin specific peptidase 24																																				SO:0001589	frameshift_variant	23358				ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr1:55538531_55538532delAC	AB028980	CCDS44154.1, CCDS44154.2	1p32.3	2008-04-11	2005-08-08		ENSG00000162402	ENSG00000162402		"Ubiquitin-specific peptidases"	12623	protein-coding gene	gene with protein product		610569	"ubiquitin specific protease 24"			12838346	Standard	NM_015306		Approved	KIAA1057	uc021onw.1	Q9UPU5	OTTHUMG00000008135	ENST00000294383.6:c.7529_7530delGT	1.37:g.55538533_55538534delAC	ENSP00000294383:p.Cys2510fs					USP24_ENST00000407756.1_Frame_Shift_Del_p.C2350fs|USP24_ENST00000484447.1_5'UTR	p.C2510fs	NM_015306.2	NP_056121.2	Q9UPU5	UBP24_HUMAN			65	7528_7529	-			2510					Q6ZSY2|Q8N2Y4|Q9NXD1	Frame_Shift_Del	DEL	ENST00000294383.6	37	c.7529_7530delGT	CCDS44154.2																																																																																				0.406	USP24-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022275.2			7	20						7	20	---	---	---	---	-	55538532	AC	-	55538531	7	5	306	1	0	1	0	1	0	0	0	0	17052	273	10	0	348	0	USP24	1	55538531	Frame_Shift_Del	DEL	AC	TCGA-KK-A59X-01A-11D-A29Q-08		55538531	193712090	1	15660											
TGFBR3	7049	broad.mit.edu	37	chr1	92195471	92195471	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tttgggttgaaggtactcagCaaggtaattgagtgagagaa	13	11	14	3	0	1	4	1	3	0	1	1	5	1	4	0	3	2	4	0	3	5	5			TCGA-KK-A59X-01A-11D-A29Q-08	TCGA-KK-A59X-11A-21D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f555699-002c-43d7-b5ef-22deebbae2a5	2e17d22b-df41-4ea2-afd3-edce529c9a20	g.chr1:92195471C>T	ENST00000525962.1	-	5	689	c.628G>A	c.(628-630)Gct>Act	p.A210T	TGFBR3_ENST00000212355.4_Missense_Mutation_p.A210T|TGFBR3_ENST00000468996.2_5'UTR|TGFBR3_ENST00000370399.2_Missense_Mutation_p.A210T			Q03167	TGBR3_HUMAN	transforming growth factor, beta receptor III	210					blastocyst development (GO:0001824)|blood vessel development (GO:0001568)|BMP signaling pathway (GO:0030509)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac muscle cell proliferation (GO:0060038)|cell growth (GO:0016049)|cell migration (GO:0016477)|definitive erythrocyte differentiation (GO:0060318)|definitive hemopoiesis (GO:0060216)|epithelial to mesenchymal transition (GO:0001837)|heart morphogenesis (GO:0003007)|heart trabecula formation (GO:0060347)|immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|liver development (GO:0001889)|negative regulation of cellular component movement (GO:0051271)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|organ regeneration (GO:0031100)|palate development (GO:0060021)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of protein binding (GO:0043393)|response to follicle-stimulating hormone (GO:0032354)|response to hypoxia (GO:0001666)|response to luteinizing hormone (GO:0034699)|response to prostaglandin E (GO:0034695)|transforming growth factor beta receptor complex assembly (GO:0007181)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|inhibin-betaglycan-ActRII complex (GO:0034673)|integral component of plasma membrane (GO:0005887)|proteinaceous extracellular matrix (GO:0005578)	coreceptor activity (GO:0015026)|glycosaminoglycan binding (GO:0005539)|heparin binding (GO:0008201)|PDZ domain binding (GO:0030165)|SMAD binding (GO:0046332)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta receptor activity, type III (GO:0070123)|transforming growth factor beta receptor binding (GO:0005160)|transforming growth factor beta-activated receptor activity (GO:0005024)|type II transforming growth factor beta receptor binding (GO:0005114)			endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(24)|ovary(3)|prostate(4)|skin(1)|stomach(1)|urinary_tract(3)	55		all_lung(203;0.00719)|Lung NSC(277;0.0268)		all cancers(265;0.0108)|Epithelial(280;0.0825)		AGGTACTCAGCAAGGTAATTG	0.473																																						ENST00000212355.4																			0				endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(24)|ovary(3)|prostate(4)|skin(1)|stomach(1)|urinary_tract(3)	55						c.(628-630)Gct>Act		transforming growth factor, beta receptor III							205	187	193					1																	92195471		2203	4300	6503	SO:0001583	missense	7049				BMP signaling pathway|cardiac epithelial to mesenchymal transition|cardiac muscle cell proliferation|cell growth|cell migration|definitive erythrocyte differentiation|heart trabecula formation|immune response|intracellular protein kinase cascade|liver development|negative regulation of cellular component movement|negative regulation of epithelial cell proliferation|palate development|pathway-restricted SMAD protein phosphorylation|response to follicle-stimulating hormone stimulus|response to luteinizing hormone stimulus|response to prostaglandin E stimulus|transforming growth factor beta receptor signaling pathway|ventricular cardiac muscle tissue morphogenesis	external side of plasma membrane|extracellular space|inhibin-betaglycan-ActRII complex|integral to plasma membrane|intracellular membrane-bounded organelle	coreceptor activity|heparin binding|PDZ domain binding|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type III|type II transforming growth factor beta receptor binding	g.chr1:92195471C>T	L07594	CCDS30770.1, CCDS55614.1	1p33-p32	2008-02-05	2007-02-15		ENSG00000069702	ENSG00000069702		"Proteoglycans / Cell surface : Other"	11774	protein-coding gene	gene with protein product	"betaglycan proteoglycan"	600742	"transforming growth factor, beta receptor III (betaglycan, 300kDa)"			1333192, 1319842	Standard	NM_001195684		Approved	betaglycan, BGCAN	uc001doh.3	Q03167	OTTHUMG00000010097	ENST00000525962.1:c.628G>A	1.37:g.92195471C>T	ENSP00000436127:p.Ala210Thr					TGFBR3_ENST00000370399.2_Missense_Mutation_p.A210T|TGFBR3_ENST00000468996.2_5'UTR|TGFBR3_ENST00000525962.1_Missense_Mutation_p.A210T	p.A210T	NM_001195683.1|NM_003243.4	NP_001182612.1|NP_003234.2	Q03167	TGBR3_HUMAN		all cancers(265;0.0108)|Epithelial(280;0.0825)	6	1093	-		all_lung(203;0.00719)|Lung NSC(277;0.0268)	210					A0AUW8|A8K5N0|B9EG88|Q5T2T4|Q5U731|Q9UGI2	Missense_Mutation	SNP	ENST00000525962.1	37	c.628G>A	CCDS30770.1	.	.	.	.	.	.	.	.	.	.	C	35	5.496195	0.96355	.	.	ENSG00000069702	ENST00000212355;ENST00000370399;ENST00000525962;ENST00000465892	T;T;T;T	0.34072	1.38;1.38;1.38;1.38	5.77	5.77	0.91146	.	0.045274	0.85682	D	0.000000	T	0.55305	0.1912	M	0.66939	2.045	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.974	T	0.55685	-0.8102	10	0.66056	D	0.02	-17.8466	19.9792	0.97320	0.0:1.0:0.0:0.0	.	210;210	Q03167-2;Q03167	.;TGBR3_HUMAN	T	210	ENSP00000212355:A210T;ENSP00000359426:A210T;ENSP00000436127:A210T;ENSP00000432638:A210T	ENSP00000212355:A210T	A	-	1	0	TGFBR3	91968059	1.000000	0.71417	0.999000	0.59377	0.986000	0.74619	6.776000	0.75023	2.727000	0.93392	0.591000	0.81541	GCT		0.473	TGFBR3-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382308.1	NM_003243		53	101	0	0	0	1	0	53	101					T	92195471	C	T	92195471	3	4	306	1	0	0	0	0	1	0	0	0	15820	710	25	3	1975	3	TGFBR3	1	92195471	Missense_Mutation	SNP	C	TCGA-KK-A59X-01A-11D-A29Q-08	36656940	92195471	157055150	2	15661											
HIST2H2AC	8338	broad.mit.edu	37	chr1	149858895	149858895	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accaaagaaaaccgaaagccAcaaagccaaaagcaaataaa	25	1	5	10	1	0	1	0	0	0	1	0	2	0	1	4	0	4	1	4	0	10	1			TCGA-KK-A59X-01A-11D-A29Q-08	TCGA-KK-A59X-11A-21D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f555699-002c-43d7-b5ef-22deebbae2a5	2e17d22b-df41-4ea2-afd3-edce529c9a20	g.chr1:149858895A>G	ENST00000331380.2	+	1	371	c.371A>G	c.(370-372)cAc>cGc	p.H124R	HIST2H2BE_ENST00000369155.2_5'Flank|BOLA1_ENST00000369153.2_5'Flank	NM_003517.2	NP_003508.1	Q16777	H2A2C_HUMAN	histone cluster 2, H2ac	124						extracellular vesicular exosome (GO:0070062)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|ovary(1)|skin(1)	20	Breast(34;0.0124)|all_hematologic(923;0.127)		STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221)			ACCGAAAGCCACAAAGCCAAA	0.463																																						ENST00000331380.2																			0				NS(1)|breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|ovary(1)|skin(1)	20						c.(370-372)cAc>cGc		histone cluster 2, H2ac							72	76	74					1																	149858895		2203	4300	6503	SO:0001583	missense	8338				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr1:149858895A>G	AY131973	CCDS937.1	1q21.2	2011-01-27	2006-10-11	2003-02-21	ENSG00000184260	ENSG00000184260		"Histones / Replication-dependent"	4738	protein-coding gene	gene with protein product		602797	"H2A histone family, member Q", "histone 2, H2ac"	H2A, H2AFQ		1469070, 9439656, 12408966	Standard	NM_003517		Approved	H2A/q	uc001etd.3	Q16777	OTTHUMG00000035825	ENST00000331380.2:c.371A>G	1.37:g.149858895A>G	ENSP00000332194:p.His124Arg						p.H124R	NM_003517.2	NP_003508.1	Q16777	H2A2C_HUMAN	STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221)		1	371	+	Breast(34;0.0124)|all_hematologic(923;0.127)		124					Q6DRA7|Q8IUE5	Missense_Mutation	SNP	ENST00000331380.2	37	c.371A>G	CCDS937.1	.	.	.	.	.	.	.	.	.	.	A	7.665	0.685825	0.14973	.	.	ENSG00000184260	ENST00000331380	T	0.46819	0.86	5.22	4.09	0.47781	Histone-fold (2);	0.000000	0.46758	D	0.000272	T	0.08179	0.0204	N	0.03608	-0.345	0.30676	N	0.752844	B	0.02656	0.0	B	0.01281	0.0	T	0.18745	-1.0327	10	0.30854	T	0.27	.	6.1294	0.20197	0.7532:0.1627:0.0841:0.0	.	124	Q16777	H2A2C_HUMAN	R	124	ENSP00000332194:H124R	ENSP00000332194:H124R	H	+	2	0	HIST2H2AC	148125519	0.999000	0.42202	0.999000	0.59377	0.991000	0.79684	3.330000	0.52068	0.852000	0.35287	0.414000	0.27820	CAC		0.463	HIST2H2AC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087128.1	NM_003517		5	170	0	0	0	1	0	5	170					G	149858895	A	G	149858895	3	3	306	1	0	0	0	0	1	0	0	0	7178	159	6	4	373	4	HIST2H2AC	1	149858895	Missense_Mutation	SNP	A	TCGA-KK-A59X-01A-11D-A29Q-08	57663424	149858895	99391726	3	15662											
C1orf51	148523	broad.mit.edu	37	chr1	150255843	150255843	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgggcagaggggaggttcaCggcccagcccgggtcctatc	6	7	16	12	2	1	1	1	0	0	1	3	2	2	2	3	6	1	2	3	6	1	3			TCGA-KK-A59X-01A-11D-A29Q-08	TCGA-KK-A59X-11A-21D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f555699-002c-43d7-b5ef-22deebbae2a5	2e17d22b-df41-4ea2-afd3-edce529c9a20	g.chr1:150255843C>T	ENST00000290363.5	+	1	615	c.166C>T	c.(166-168)Cgg>Tgg	p.R56W	C1orf51_ENST00000369095.1_Missense_Mutation_p.R56W|C1orf51_ENST00000469255.1_3'UTR|C1orf51_ENST00000369094.1_Intron	NM_144697.2	NP_653298.1	Q8N365	CIART_HUMAN		56					circadian regulation of gene expression (GO:0032922)|locomotor rhythm (GO:0045475)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|E-box binding (GO:0070888)			endometrium(3)|large_intestine(2)|lung(3)|urinary_tract(2)	10	Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			GGGAGGTTCACGGCCCAGCCC	0.602																																						ENST00000290363.5																			0				endometrium(3)|large_intestine(2)|lung(3)|urinary_tract(2)	10						c.(166-168)Cgg>Tgg		chromosome 1 open reading frame 51							116	117	117					1																	150255843		2203	4300	6503	SO:0001583	missense	148523							g.chr1:150255843C>T																												ENST00000290363.5:c.166C>T	1.37:g.150255843C>T	ENSP00000290363:p.Arg56Trp					C1orf51_ENST00000469255.1_3'UTR|C1orf51_ENST00000369095.1_Missense_Mutation_p.R56W|C1orf51_ENST00000369094.1_Intron	p.R56W	NM_144697.2	NP_653298.1	Q8N365	CA051_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		1	615	+	Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		56					B2RD43|D3DV01|Q8N795|Q96MG6	Missense_Mutation	SNP	ENST00000290363.5	37	c.166C>T	CCDS949.1	.	.	.	.	.	.	.	.	.	.	C	13.74	2.327267	0.41197	.	.	ENSG00000159208	ENST00000369095;ENST00000290363	.	.	.	4.7	3.76	0.43208	.	0.561327	0.18254	N	0.146860	T	0.54711	0.1875	L	0.60455	1.87	0.32911	D	0.514459	D	0.89917	1.0	D	0.72625	0.978	T	0.59380	-0.7465	9	0.87932	D	0	-2.2513	9.6839	0.40087	0.216:0.784:0.0:0.0	.	56	Q8N365	CA051_HUMAN	W	56	.	ENSP00000290363:R56W	R	+	1	2	C1orf51	148522467	0.020000	0.18652	0.976000	0.42696	0.935000	0.57460	-0.093000	0.11111	1.138000	0.42230	0.655000	0.94253	CGG		0.602	C1orf51-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000035058.1			5	340	0	0	0	1	0	5	340					T	150255843	C	T	150255843	3	4	306	1	0	0	0	0	1	0	0	0	2043	527	19	1	168	1	C1orf51	1	150255843	Missense_Mutation	SNP	C	TCGA-KK-A59X-01A-11D-A29Q-08	396948	150255843	98994778	4	15663											
ALS2CL	259173	broad.mit.edu	37	chr3	46713451	46713451	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tactcccggcccaataccctCgacaccgtgccctcaatttc	8	9	5	19	3	1	0	1	0	0	0	4	1	2	0	5	1	3	0	5	1	4	3			TCGA-KK-A59X-01A-11D-A29Q-08	TCGA-KK-A59X-11A-21D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f555699-002c-43d7-b5ef-22deebbae2a5	2e17d22b-df41-4ea2-afd3-edce529c9a20	g.chr3:46713451C>T	ENST00000318962.4	-	24	2690	c.2607G>A	c.(2605-2607)tcG>tcA	p.S869S	ALS2CL_ENST00000383742.3_Silent_p.S216S|ALS2CL_ENST00000415953.1_Silent_p.S869S	NM_147129.3	NP_667340.2	Q60I27	AL2CL_HUMAN	ALS2 C-terminal like	869	VPS9. {ECO:0000255|PROSITE- ProRule:PRU00550}.				endosome organization (GO:0007032)|protein localization (GO:0008104)	cytoplasmic membrane-bounded vesicle (GO:0016023)	GTPase activator activity (GO:0005096)|identical protein binding (GO:0042802)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(3)|stomach(2)	29				BRCA - Breast invasive adenocarcinoma(193;0.000726)|KIRC - Kidney renal clear cell carcinoma(197;0.0171)|Kidney(197;0.0202)		CCAATACCCTCGACACCGTGC	0.642																																						ENST00000318962.4																			0				NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(3)|stomach(2)	29						c.(2605-2607)tcG>tcA		ALS2 C-terminal like							121	100	107					3																	46713451		2203	4300	6503	SO:0001819	synonymous_variant	259173				endosome organization|regulation of Rho protein signal transduction		GTPase activator activity|identical protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr3:46713451C>T	AK074118	CCDS2743.1, CCDS43080.1	3p21.31	2008-01-30			ENSG00000178038	ENSG00000178038			20605	protein-coding gene	gene with protein product		612402				15388334, 8889548, 17239822	Standard	NM_147129		Approved	FLJ36525, RN49018, DKFZp686I0110	uc003cqb.2	Q60I27	OTTHUMG00000128673	ENST00000318962.4:c.2607G>A	3.37:g.46713451C>T						ALS2CL_ENST00000383742.3_Silent_p.S216S|ALS2CL_ENST00000415953.1_Silent_p.S869S	p.S869S	NM_147129.3	NP_667340.2	Q60I27	AL2CL_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000726)|KIRC - Kidney renal clear cell carcinoma(197;0.0171)|Kidney(197;0.0202)	24	2690	-			869			VPS9.		Q32MA1|Q6AI56|Q6ZNC5|Q6ZNC7|Q6ZTL4|Q86YD2|Q8N9U1|Q8NAL7	Silent	SNP	ENST00000318962.4	37	c.2607G>A	CCDS2743.1																																																																																				0.642	ALS2CL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250567.3	NM_147129		7	139	0	0	0	1	0	7	139					T	46713451	C	T	46713451	2	4	306	1	0	0	0	0	0	0	0	1	551	871	31	2		2	ALS2CL	3	46713451	Silent	SNP	C	TCGA-KK-A59X-01A-11D-A29Q-08		46713451	151308979	5	15664											
ROBO1	6091	broad.mit.edu	37	chr3	78987846	78987846	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	catcaggtctacttttccgtCcatgtactatacgtaagaaa	12	13	6	10	2	2	1	1	0	1	1	4	1	4	1	2	1	3	2	2	1	6	7			TCGA-KK-A59X-01A-11D-A29Q-08	TCGA-KK-A59X-11A-21D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f555699-002c-43d7-b5ef-22deebbae2a5	2e17d22b-df41-4ea2-afd3-edce529c9a20	g.chr3:78987846C>T	ENST00000464233.1	-	4	517	c.404G>A	c.(403-405)gGa>gAa	p.G135E	RN7SL751P_ENST00000473281.2_RNA|ROBO1_ENST00000467549.1_Missense_Mutation_p.G96E|ROBO1_ENST00000495273.1_Missense_Mutation_p.G96E|ROBO1_ENST00000436010.2_Missense_Mutation_p.G96E	NM_002941.3	NP_002932.1	Q9Y6N7	ROBO1_HUMAN	roundabout, axon guidance receptor, homolog 1 (Drosophila)	135	Ig-like C2-type 1.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|cell adhesion (GO:0007155)|cell migration involved in sprouting angiogenesis (GO:0002042)|chemorepulsion involved in postnatal olfactory bulb interneuron migration (GO:0021836)|homophilic cell adhesion (GO:0007156)|mammary duct terminal end bud growth (GO:0060763)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|negative regulation of negative chemotaxis (GO:0050925)|nervous system development (GO:0007399)|positive regulation of axonogenesis (GO:0050772)|Roundabout signaling pathway (GO:0035385)	axolemma (GO:0030673)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	axon guidance receptor activity (GO:0008046)|identical protein binding (GO:0042802)|LRR domain binding (GO:0030275)			breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1)	44		Lung SC(41;0.0257)|Lung NSC(201;0.0439)		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)		ACTTTTCCGTCCATGTACTAT	0.473																																						ENST00000436010.2																			0				breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1)	44						c.(286-288)gGa>gAa		roundabout, axon guidance receptor, homolog 1 (Drosophila)							101	95	97					3																	78987846		1961	4164	6125	SO:0001583	missense	6091				activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis|Roundabout signaling pathway	cell surface|cytoplasm|integral to plasma membrane	axon guidance receptor activity|identical protein binding|LRR domain binding	g.chr3:78987846C>T	AF040990	CCDS46872.1, CCDS46872.2, CCDS54610.1, CCDS54611.1	3p12.3	2013-02-11	2001-11-28		ENSG00000169855	ENSG00000169855		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	10249	protein-coding gene	gene with protein product		602430	"roundabout (axon guidance receptor, Drosophila) homolog 1"			9458045, 9608531	Standard	NM_002941		Approved	DUTT1, FLJ21882, SAX3	uc003dqe.2	Q9Y6N7	OTTHUMG00000158843	ENST00000464233.1:c.404G>A	3.37:g.78987846C>T	ENSP00000420321:p.Gly135Glu					ROBO1_ENST00000495273.1_Missense_Mutation_p.G96E|ROBO1_ENST00000467549.1_Missense_Mutation_p.G96E|ROBO1_ENST00000464233.1_Missense_Mutation_p.G135E	p.G96E			Q9Y6N7	ROBO1_HUMAN		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)	2	1284	-		Lung SC(41;0.0257)|Lung NSC(201;0.0439)	135			Ig-like C2-type 1.		B2RXI1|D3DU36|E9PD49|Q1RMC7|Q7Z300|Q9BUS7	Missense_Mutation	SNP	ENST00000464233.1	37	c.287G>A	CCDS54611.1	.	.	.	.	.	.	.	.	.	.	C	28.5	4.922182	0.92319	.	.	ENSG00000169855	ENST00000436010;ENST00000398412;ENST00000464233;ENST00000495273;ENST00000467549;ENST00000398414	T;T;T;T	0.66638	-0.22;-0.22;-0.22;-0.22	5.53	5.53	0.82687	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);	0.000000	0.85682	D	0.000000	T	0.73473	0.3591	N	0.26042	0.785	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;0.999	T	0.71020	-0.4713	9	.	.	.	.	19.4697	0.94958	0.0:1.0:0.0:0.0	.	135;96;96;96	Q9Y6N7;B2RXI1;E9PD49;Q9Y6N7-4	ROBO1_HUMAN;.;.;.	E	96;96;135;96;96;135	ENSP00000406043:G96E;ENSP00000420321:G135E;ENSP00000420637:G96E;ENSP00000417992:G96E	.	G	-	2	0	ROBO1	79070536	1.000000	0.71417	1.000000	0.80357	0.858000	0.48976	7.792000	0.85828	2.611000	0.88343	0.462000	0.41574	GGA		0.473	ROBO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352610.1	NM_002941		19	26	0	0	0	1	0	19	26					T	78987846	C	T	78987846	3	4	306	1	0	0	0	0	1	0	0	0	13513	855	30	3	4676	3	ROBO1	3	78987846	Missense_Mutation	SNP	C	TCGA-KK-A59X-01A-11D-A29Q-08	32274395	78987846	119034584	6	15665											
ETV5	2119	broad.mit.edu	37	chr3	185797768	185797768	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gaactgggccagctgcagggGcatgccctgaggtgggcaga	8	5	18	10	0	0	2	0	1	0	1	0	3	0	2	2	5	4	4	2	5	1	0			TCGA-KK-A59X-01A-11D-A29Q-08	TCGA-KK-A59X-11A-21D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f555699-002c-43d7-b5ef-22deebbae2a5	2e17d22b-df41-4ea2-afd3-edce529c9a20	g.chr3:185797768G>A	ENST00000306376.5	-	7	734	c.488C>T	c.(487-489)gCc>gTc	p.A163V	ETV5-AS1_ENST00000453370.1_RNA|ETV5_ENST00000537818.1_Missense_Mutation_p.A205V|ETV5_ENST00000434744.1_Missense_Mutation_p.A163V	NM_004454.2	NP_004445.1	P41161	ETV5_HUMAN	ets variant 5	163					cell differentiation (GO:0030154)|cellular response to oxidative stress (GO:0034599)|locomotory behavior (GO:0007626)|male germ-line stem cell asymmetric division (GO:0048133)|neuromuscular synaptic transmission (GO:0007274)|positive regulation of glial cell proliferation (GO:0060252)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of branching involved in mammary gland duct morphogenesis (GO:0060762)|regulation of synapse organization (GO:0050807)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|skeletal muscle acetylcholine-gated channel clustering (GO:0071340)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|cervix(1)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	28	all_cancers(143;4.06e-12)|Ovarian(172;0.0386)|Breast(254;0.247)		OV - Ovarian serous cystadenocarcinoma(80;1.62e-24)			AGCTGCAGGGGCATGCCCTGA	0.637			T	"TMPRSS2, SCL45A3"	Prostate																																	ENST00000306376.5				Dom	yes		3	3q28	2119	T	ets variant gene 5			E	"TMPRSS2, SCL45A3"		Prostate		0				breast(2)|cervix(1)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	28						c.(487-489)gCc>gTc		ets variant 5							27	34	32					3																	185797768		2198	4299	6497	SO:0001583	missense	2119				cellular response to oxidative stress	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	g.chr3:185797768G>A	BC007333	CCDS33906.1	3q28	2008-09-12	2008-09-12		ENSG00000244405	ENSG00000244405			3494	protein-coding gene	gene with protein product	"ets-related molecule"	601600	"ets variant gene 5 (ets-related molecule)"			8152800	Standard	NM_004454		Approved	ERM	uc003fpz.3	P41161	OTTHUMG00000156639	ENST00000306376.5:c.488C>T	3.37:g.185797768G>A	ENSP00000306894:p.Ala163Val					ETV5-AS1_ENST00000453370.1_RNA|ETV5_ENST00000434744.1_Missense_Mutation_p.A163V|ETV5_ENST00000537818.1_Missense_Mutation_p.A205V	p.A163V	NM_004454.2	NP_004445.1	P41161	ETV5_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1.62e-24)		7	734	-	all_cancers(143;4.06e-12)|Ovarian(172;0.0386)|Breast(254;0.247)		163					A6NH46|B7Z7D7|Q6IBN5	Missense_Mutation	SNP	ENST00000306376.5	37	c.488C>T	CCDS33906.1	.	.	.	.	.	.	.	.	.	.	G	6.863	0.528604	0.13127	.	.	ENSG00000244405	ENST00000306376;ENST00000434744;ENST00000537818	T;T;T	0.23754	1.89;1.89;1.89	5.32	2.52	0.30459	PEA3-type ETS-domain transcription factor, N-terminal (1);	0.749625	0.12653	N	0.450329	T	0.11580	0.0282	N	0.08118	0	0.19775	N	0.999957	B;B	0.14012	0.0;0.009	B;B	0.15052	0.001;0.012	T	0.32295	-0.9912	10	0.23302	T	0.38	.	6.0881	0.19978	0.1711:0.157:0.672:0.0	.	163;205	P41161;B7Z7D7	ETV5_HUMAN;.	V	163;163;205	ENSP00000306894:A163V;ENSP00000413755:A163V;ENSP00000441737:A205V	ENSP00000306894:A163V	A	-	2	0	ETV5	187280462	0.608000	0.26966	0.383000	0.26132	0.319000	0.28217	1.656000	0.37355	0.617000	0.30160	-0.302000	0.09304	GCC		0.637	ETV5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344947.1	NM_004454		4	107	0	0	0	1	0	4	107					A	185797768	G	A	185797768	3	1	306	1	0	0	0	0	1	0	0	0	5282	1203	42	3	1072	3	ETV5	3	185797768	Missense_Mutation	SNP	G	TCGA-KK-A59X-01A-11D-A29Q-08	106809922	185797768	12224662	7	15666											
LEF1	51176	broad.mit.edu	37	chr4	108999454	108999454	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acattcgctctcatttctttCatgtataacataaaagcatt	13	16	3	9	1	3	0	2	0	2	0	5	0	3	0	0	0	2	3	0	0	4	7			TCGA-KK-A59X-01A-11D-A29Q-08	TCGA-KK-A59X-11A-21D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f555699-002c-43d7-b5ef-22deebbae2a5	2e17d22b-df41-4ea2-afd3-edce529c9a20	g.chr4:108999454C>T	ENST00000265165.1	-	8	1584	c.930G>A	c.(928-930)atG>atA	p.M310I	LEF1_ENST00000379951.2_Missense_Mutation_p.M282I|LEF1_ENST00000510624.1_Missense_Mutation_p.M214I|LEF1_ENST00000438313.2_Missense_Mutation_p.M282I|LEF1_ENST00000503879.1_5'UTR	NM_016269.4	NP_057353.1	Q9UJU2	LEF1_HUMAN	lymphoid enhancer-binding factor 1	310					alpha-beta T cell differentiation (GO:0046632)|anatomical structure regression (GO:0060033)|apoptotic process involved in morphogenesis (GO:0060561)|apoptotic process involved in patterning of blood vessels (GO:1902262)|B cell proliferation (GO:0042100)|BMP signaling pathway (GO:0030509)|canonical Wnt signaling pathway (GO:0060070)|cell chemotaxis (GO:0060326)|cellular response to cytokine stimulus (GO:0071345)|cellular response to interleukin-4 (GO:0071353)|chorio-allantoic fusion (GO:0060710)|dentate gyrus development (GO:0021542)|embryonic limb morphogenesis (GO:0030326)|epithelial to mesenchymal transition (GO:0001837)|eye pigmentation (GO:0048069)|face morphogenesis (GO:0060325)|forebrain neuroblast division (GO:0021873)|forebrain neuron differentiation (GO:0021879)|forebrain radial glial cell differentiation (GO:0021861)|formation of radial glial scaffolds (GO:0021943)|histone H3 acetylation (GO:0043966)|histone H4 acetylation (GO:0043967)|hypothalamus development (GO:0021854)|mammary gland development (GO:0030879)|muscle fiber development (GO:0048747)|negative regulation of apoptotic process (GO:0043066)|negative regulation of apoptotic process in bone marrow (GO:0071866)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of DNA binding (GO:0043392)|negative regulation of estrogen receptor binding (GO:0071899)|negative regulation of interleukin-13 production (GO:0032696)|negative regulation of interleukin-4 production (GO:0032713)|negative regulation of interleukin-5 production (GO:0032714)|negative regulation of striated muscle tissue development (GO:0045843)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural crest cell migration (GO:0001755)|neutrophil differentiation (GO:0030223)|odontoblast differentiation (GO:0071895)|odontogenesis of dentin-containing tooth (GO:0042475)|osteoblast differentiation (GO:0001649)|palate development (GO:0060021)|paraxial mesoderm formation (GO:0048341)|patterning of blood vessels (GO:0001569)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of cell cycle process (GO:0090068)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell proliferation in bone marrow (GO:0071864)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of gene expression (GO:0010628)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell-cell adhesion (GO:0022407)|regulation of striated muscle tissue development (GO:0016202)|sensory perception of taste (GO:0050909)|somitogenesis (GO:0001756)|sprouting angiogenesis (GO:0002040)|steroid hormone mediated signaling pathway (GO:0043401)|T cell receptor V(D)J recombination (GO:0033153)|T-helper 1 cell differentiation (GO:0045063)|tongue development (GO:0043586)|trachea gland development (GO:0061153)|transcription from RNA polymerase II promoter (GO:0006366)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein-DNA complex (GO:0032993)|transcription factor complex (GO:0005667)	armadillo repeat domain binding (GO:0070016)|beta-catenin binding (GO:0008013)|C2H2 zinc finger domain binding (GO:0070742)|chromatin binding (GO:0003682)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|DNA binding (GO:0003677)|DNA binding, bending (GO:0008301)|enhancer binding (GO:0035326)|estrogen receptor activity (GO:0030284)|estrogen receptor binding (GO:0030331)|gamma-catenin binding (GO:0045295)|histone binding (GO:0042393)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(14)|prostate(1)|urinary_tract(1)	25				OV - Ovarian serous cystadenocarcinoma(123;0.000224)		TCATTTCTTTCATGTATAACA	0.433																																						ENST00000379951.2																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(14)|prostate(1)|urinary_tract(1)	25						c.(844-846)atG>atA		lymphoid enhancer-binding factor 1							254	255	255					4																	108999454		2203	4300	6503	SO:0001583	missense	51176				canonical Wnt receptor signaling pathway|cell chemotaxis|cellular response to interleukin-4|epithelial to mesenchymal transition|histone H3 acetylation|histone H4 acetylation|negative regulation of apoptosis in bone marrow|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell-cell adhesion|negative regulation of DNA binding|negative regulation of estrogen receptor binding|negative regulation of interleukin-13 production|negative regulation of interleukin-4 production|negative regulation of interleukin-5 production|negative regulation of transcription, DNA-dependent|neutrophil differentiation|osteoblast differentiation|palate development|positive regulation by host of viral transcription|positive regulation of cell cycle process|positive regulation of cell growth|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of cell proliferation in bone marrow|positive regulation of cell-cell adhesion|positive regulation of epithelial to mesenchymal transition|positive regulation of granulocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|T-helper 1 cell differentiation	cytoplasm|protein-DNA complex|transcription factor complex	armadillo repeat domain binding|beta-catenin binding|C2H2 zinc finger domain binding|caspase inhibitor activity|DNA bending activity|enhancer binding|estrogen receptor activity|estrogen receptor binding|gamma-catenin binding|histone binding|sequence-specific DNA binding|transcription regulatory region DNA binding	g.chr4:108999454C>T		CCDS3679.1, CCDS47122.1, CCDS47123.1, CCDS54791.1	4q23-q25	2011-07-08			ENSG00000138795	ENSG00000138795			6551	protein-coding gene	gene with protein product		153245				1783375	Standard	NM_016269		Approved	TCF1ALPHA, TCF10, TCF7L3	uc003hyt.2	Q9UJU2	OTTHUMG00000131809	ENST00000265165.1:c.930G>A	4.37:g.108999454C>T	ENSP00000265165:p.Met310Ile					LEF1_ENST00000438313.2_Missense_Mutation_p.M282I|LEF1_ENST00000510624.1_Missense_Mutation_p.M214I|LEF1_ENST00000265165.1_Missense_Mutation_p.M310I|LEF1_ENST00000503879.1_5'UTR	p.M282I	NM_001130713.2|NM_001130714.2	NP_001124185.1|NP_001124186.1	Q9UJU2	LEF1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000224)	7	2034	-			310					B4DG38|B7Z8E2|E9PDK3|Q3ZCU4|Q9HAZ0	Missense_Mutation	SNP	ENST00000265165.1	37	c.846G>A	CCDS3679.1	.	.	.	.	.	.	.	.	.	.	C	35	5.449666	0.96205	.	.	ENSG00000138795	ENST00000265165;ENST00000379951;ENST00000438313;ENST00000510624	D;D;D;D	0.98028	-4.67;-4.67;-4.67;-4.67	5.89	5.89	0.94794	High mobility group, superfamily (1);High mobility group, HMG1/HMG2 (4);	0.000000	0.85682	D	0.000000	D	0.98782	0.9590	M	0.79693	2.465	0.80722	D	1	P;D;P;D;P	0.64830	0.705;0.969;0.656;0.994;0.933	P;D;P;D;D	0.81914	0.708;0.968;0.679;0.995;0.942	D	0.99589	1.0975	10	0.87932	D	0	.	20.248	0.98401	0.0:1.0:0.0:0.0	.	214;167;282;282;310	E9PDK3;B4DZY5;Q9UJU2-6;Q9UJU2-5;Q9UJU2	.;.;.;.;LEF1_HUMAN	I	310;282;282;214	ENSP00000265165:M310I;ENSP00000369284:M282I;ENSP00000406176:M282I;ENSP00000422840:M214I	ENSP00000265165:M310I	M	-	3	0	LEF1	109218903	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.726000	0.84824	2.790000	0.95986	0.655000	0.94253	ATG		0.433	LEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254749.2			195	266	0	0	0	1	0	195	266					T	108999454	C	T	108999454	3	4	306	1	0	0	0	0	1	0	0	0	8714	826	29	3	369	3	LEF1	4	108999454	Missense_Mutation	SNP	C	TCGA-KK-A59X-01A-11D-A29Q-08		108999454	82154822	8	15667											
CAMK2D	817	broad.mit.edu	37	chr4	114469847	114469847	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaactatgccatttaggtgaCaatgattaacactttctaga	14	13	7	7	0	1	3	0	2	1	1	1	4	1	3	1	1	3	0	1	1	6	6			TCGA-KK-A59X-01A-11D-A29Q-08	TCGA-KK-A59X-11A-21D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f555699-002c-43d7-b5ef-22deebbae2a5	2e17d22b-df41-4ea2-afd3-edce529c9a20	g.chr4:114469847C>A	ENST00000342666.5	-	6	379	c.380G>T	c.(379-381)tGt>tTt	p.C127F	CAMK2D_ENST00000514328.1_Missense_Mutation_p.C127F|CAMK2D_ENST00000418639.2_Missense_Mutation_p.C127F|CAMK2D_ENST00000379773.2_Missense_Mutation_p.C127F|CAMK2D_ENST00000515496.1_Missense_Mutation_p.C127F|CAMK2D_ENST00000508738.1_Missense_Mutation_p.C127F|CAMK2D_ENST00000394522.3_Missense_Mutation_p.C127F|CAMK2D_ENST00000394526.2_Missense_Mutation_p.C127F|CAMK2D_ENST00000296402.5_Missense_Mutation_p.C127F|CAMK2D_ENST00000505990.1_Intron|CAMK2D_ENST00000429180.1_Missense_Mutation_p.C127F|CAMK2D_ENST00000394524.3_Missense_Mutation_p.C127F|CAMK2D_ENST00000511664.1_Intron|CAMK2D_ENST00000454265.2_Missense_Mutation_p.C127F			Q13557	KCC2D_HUMAN	calcium/calmodulin-dependent protein kinase II delta	127	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				calcium ion transport (GO:0006816)|cardiac muscle cell contraction (GO:0086003)|cellular response to calcium ion (GO:0071277)|cytokine-mediated signaling pathway (GO:0019221)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|G1/S transition of mitotic cell cycle (GO:0000082)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of sodium ion transmembrane transport (GO:1902306)|negative regulation of sodium ion transmembrane transporter activity (GO:2000650)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|protein autophosphorylation (GO:0046777)|protein oligomerization (GO:0051259)|protein phosphorylation (GO:0006468)|regulation of cardiac muscle cell action potential (GO:0098901)|regulation of cardiac muscle cell action potential involved in regulation of contraction (GO:0098909)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cell communication by electrical coupling (GO:0010649)|regulation of cell communication by electrical coupling involved in cardiac conduction (GO:1901844)|regulation of cell growth (GO:0001558)|regulation of cellular localization (GO:0060341)|regulation of generation of L-type calcium current (GO:1902514)|regulation of heart contraction (GO:0008016)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of histone deacetylase activity (GO:1901725)|regulation of membrane depolarization (GO:0003254)|regulation of relaxation of cardiac muscle (GO:1901897)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of the force of heart contraction (GO:0002026)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|relaxation of cardiac muscle (GO:0055119)|synaptic transmission (GO:0007268)	axon initial segment (GO:0043194)|calcium channel complex (GO:0034704)|calcium- and calmodulin-dependent protein kinase complex (GO:0005954)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|intercalated disc (GO:0014704)|membrane (GO:0016020)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)	ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|calmodulin-dependent protein kinase activity (GO:0004683)|ion channel binding (GO:0044325)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activity (GO:0004674)|sodium channel inhibitor activity (GO:0019871)|titin binding (GO:0031432)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)	13		Ovarian(17;0.00369)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000271)		ATTTAGGTGACAATGATTAAC	0.378																																						ENST00000454265.2																			0				breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)	13						c.(379-381)tGt>tTt		calcium/calmodulin-dependent protein kinase II delta							101	98	99					4																	114469847		2203	4300	6503	SO:0001583	missense	817				interferon-gamma-mediated signaling pathway|regulation of cell growth|synaptic transmission	calcium- and calmodulin-dependent protein kinase complex|cytosol|endocytic vesicle membrane|nucleoplasm|plasma membrane	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity	g.chr4:114469847C>A	U50361	CCDS3703.1, CCDS3704.1, CCDS43263.1, CCDS47127.1, CCDS54797.1	4q26	2008-10-30	2008-10-30		ENSG00000145349	ENSG00000145349			1462	protein-coding gene	gene with protein product		607708	"calcium/calmodulin-dependent protein kinase (CaM kinase) II delta"	CAMKD			Standard	NM_001221		Approved		uc003ibi.3	Q13557	OTTHUMG00000132910	ENST00000342666.5:c.380G>T	4.37:g.114469847C>A	ENSP00000339740:p.Cys127Phe					CAMK2D_ENST00000418639.2_Missense_Mutation_p.C127F|CAMK2D_ENST00000296402.5_Missense_Mutation_p.C127F|CAMK2D_ENST00000514328.1_Missense_Mutation_p.C127F|CAMK2D_ENST00000429180.1_Missense_Mutation_p.C127F|CAMK2D_ENST00000511664.1_Intron|CAMK2D_ENST00000508738.1_Missense_Mutation_p.C127F|CAMK2D_ENST00000505990.1_Intron|CAMK2D_ENST00000394526.2_Missense_Mutation_p.C127F|CAMK2D_ENST00000342666.5_Missense_Mutation_p.C127F|CAMK2D_ENST00000394524.3_Missense_Mutation_p.C127F|CAMK2D_ENST00000379773.2_Missense_Mutation_p.C127F|CAMK2D_ENST00000394522.3_Missense_Mutation_p.C127F|CAMK2D_ENST00000515496.1_Missense_Mutation_p.C127F	p.C127F			Q13557	KCC2D_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000271)	6	1238	-		Ovarian(17;0.00369)|Hepatocellular(203;0.217)	127			Protein kinase.		A8MVS8|Q52PK4|Q59G21|Q8N553|Q9UGH6|Q9UQE9	Missense_Mutation	SNP	ENST00000342666.5	37	c.380G>T	CCDS3703.1	.	.	.	.	.	.	.	.	.	.	C	19.80	3.894347	0.72639	.	.	ENSG00000145349	ENST00000394524;ENST00000454265;ENST00000429180;ENST00000418639;ENST00000394526;ENST00000296402;ENST00000342666;ENST00000515496;ENST00000514328;ENST00000394522;ENST00000379773;ENST00000508738	T;T;T;T;T;T;T;T;T;T;T;T	0.25579	1.79;1.79;1.79;1.79;1.79;1.79;1.79;1.79;1.79;1.79;1.79;1.79	5.53	5.53	0.82687	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.52565	0.1742	M	0.66378	2.025	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.83275	0.995;0.995;0.991;0.996	T	0.53387	-0.8446	10	0.87932	D	0	.	19.4502	0.94863	0.0:1.0:0.0:0.0	.	127;127;127;127	Q13557-3;Q13557-6;Q13557-12;Q13557	.;.;.;KCC2D_HUMAN	F	127	ENSP00000378032:C127F;ENSP00000415248:C127F;ENSP00000415707:C127F;ENSP00000406131:C127F;ENSP00000378034:C127F;ENSP00000296402:C127F;ENSP00000339740:C127F;ENSP00000423482:C127F;ENSP00000423677:C127F;ENSP00000378030:C127F;ENSP00000369098:C127F;ENSP00000422566:C127F	ENSP00000296402:C127F	C	-	2	0	CAMK2D	114689296	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.688000	0.68227	2.608000	0.88229	0.650000	0.86243	TGT		0.378	CAMK2D-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256420.2			28	39	1	0	2.47511e-08	1	2.57545e-08	28	39					A	114469847	C	A	114469847	3	1	306	1	0	0	0	0	1	0	0	0	2601	478	17	5	1266	5	CAMK2D	4	114469847	Missense_Mutation	SNP	C	TCGA-KK-A59X-01A-11D-A29Q-08	5470393	114469847	76684429	9	15668											
DAB2	1601	broad.mit.edu	37	chr5	39377007	39377007	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	actggagatgtccttgggagGgccagctctgggaggtggct	6	9	18	8	0	1	1	0	0	1	1	2	4	2	3	2	6	1	2	2	6	0	1			TCGA-KK-A59X-01A-11D-A29Q-08	TCGA-KK-A59X-11A-21D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f555699-002c-43d7-b5ef-22deebbae2a5	2e17d22b-df41-4ea2-afd3-edce529c9a20	g.chr5:39377007G>A	ENST00000320816.6	-	12	2349	c.1882C>T	c.(1882-1884)Cct>Tct	p.P628S	DAB2_ENST00000339788.6_Missense_Mutation_p.P410S|DAB2_ENST00000545653.1_Missense_Mutation_p.P607S|DAB2_ENST00000509337.1_Missense_Mutation_p.P607S	NM_001343.3	NP_001334.2	P98082	DAB2_HUMAN	Dab, mitogen-responsive phosphoprotein, homolog 2 (Drosophila)	628	Sufficient for interaction with GRB2. {ECO:0000250}.				activation of JUN kinase activity (GO:0007257)|apoptotic process (GO:0006915)|cell morphogenesis involved in differentiation (GO:0000904)|cell proliferation (GO:0008283)|cellular response to transforming growth factor beta stimulus (GO:0071560)|clathrin coat assembly (GO:0048268)|endoderm development (GO:0007492)|excretion (GO:0007588)|in utero embryonic development (GO:0001701)|leading edge cell differentiation (GO:0035026)|membrane organization (GO:0061024)|myeloid cell differentiation (GO:0030099)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of protein binding (GO:0032091)|negative regulation of protein localization to plasma membrane (GO:1903077)|negative regulation of transcription, DNA-templated (GO:0045892)|pinocytosis (GO:0006907)|positive regulation of cell migration (GO:0030335)|positive regulation of clathrin-mediated endocytosis (GO:2000370)|positive regulation of early endosome to late endosome transport (GO:2000643)|positive regulation of endocytosis (GO:0045807)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of integrin-mediated signaling pathway (GO:2001046)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of receptor recycling (GO:0001921)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)|Wnt signaling pathway (GO:0016055)	apical plasma membrane (GO:0016324)|clathrin coat of coated pit (GO:0030132)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal membrane (GO:0005765)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	cargo receptor activity (GO:0038024)|clathrin adaptor activity (GO:0035615)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein C-terminus binding (GO:0008022)|SMAD binding (GO:0046332)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(5)|large_intestine(9)|lung(19)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	47	all_lung(31;0.000197)		Epithelial(62;0.137)			TCCTTGGGAGGGCCAGCTCTG	0.522											OREG0016586	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000545653.1																			0				autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(5)|large_intestine(9)|lung(19)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	47						c.(1819-1821)Cct>Tct		Dab, mitogen-responsive phosphoprotein, homolog 2 (Drosophila)							77	91	86					5																	39377007		2203	4300	6503	SO:0001583	missense	1601				cell proliferation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of protein binding|negative regulation of transcription, DNA-dependent|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway, planar cell polarity pathway	clathrin coated vesicle membrane|coated pit	protein C-terminus binding	g.chr5:39377007G>A	U53446	CCDS34149.1, CCDS58946.1	5p13.1	2013-10-03	2013-03-08		ENSG00000153071	ENSG00000153071			2662	protein-coding gene	gene with protein product		601236	"disabled (Drosophila) homolog 2 (mitogen-responsive phosphoprotein)", "disabled homolog 2, mitogen-responsive phosphoprotein (Drosophila)"			8660969, 9620555	Standard	NM_001343		Approved	DOC-2	uc003jlx.3	P98082	OTTHUMG00000162043	ENST00000320816.6:c.1882C>T	5.37:g.39377007G>A	ENSP00000313391:p.Pro628Ser		OREG0016586	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	885	DAB2_ENST00000509337.1_Missense_Mutation_p.P607S|DAB2_ENST00000320816.6_Missense_Mutation_p.P628S|DAB2_ENST00000339788.6_Missense_Mutation_p.P410S	p.P607S	NM_001244871.1	NP_001231800.1	P98082	DAB2_HUMAN	Epithelial(62;0.137)		11	2349	-	all_lung(31;0.000197)		628					A6NES5|Q13598|Q9BTY0|Q9UK04	Missense_Mutation	SNP	ENST00000320816.6	37	c.1819C>T	CCDS34149.1	.	.	.	.	.	.	.	.	.	.	G	17.78	3.474574	0.63737	.	.	ENSG00000153071	ENST00000320816;ENST00000339788;ENST00000545653;ENST00000509337	T;T;T;T	0.39229	1.12;1.09;1.13;1.13	4.87	3.99	0.46301	.	0.159807	0.56097	D	0.000024	T	0.57007	0.2024	M	0.64170	1.965	0.28579	N	0.910215	P;D	0.55800	0.77;0.973	B;P	0.58660	0.285;0.843	T	0.58047	-0.7705	10	0.62326	D	0.03	-0.4183	15.1944	0.73075	0.0:0.1631:0.8369:0.0	.	628;607	P98082;P98082-3	DAB2_HUMAN;.	S	628;410;607;607	ENSP00000313391:P628S;ENSP00000345508:P410S;ENSP00000439919:P607S;ENSP00000426245:P607S	ENSP00000313391:P628S	P	-	1	0	DAB2	39412764	0.999000	0.42202	0.758000	0.31321	0.904000	0.53231	3.668000	0.54554	1.049000	0.40321	0.655000	0.94253	CCT		0.522	DAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367014.1	NM_001343		7	182	0	0	0	1	0	7	182					A	39377007	G	A	39377007	3	1	306	1	0	0	0	0	1	0	0	0	4218	1232	43	3	442	3	DAB2	5	39377007	Missense_Mutation	SNP	G	TCGA-KK-A59X-01A-11D-A29Q-08		39377007	141538253	10	15669											
IL6ST	3572	broad.mit.edu	37	chr5	55259975	55259975	+	Splice_Site	DEL	T	T	-																															aattcaggtttataactaccTttatatacaggatcaaaatt																										TCGA-KK-A59X-01A-11D-A29Q-08	TCGA-KK-A59X-11A-21D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f555699-002c-43d7-b5ef-22deebbae2a5	2e17d22b-df41-4ea2-afd3-edce529c9a20	g.chr5:55259975delT	ENST00000381298.2	-	6	969	c.657delA	c.(655-657)aaa>aa	p.K219fs	IL6ST_ENST00000381287.4_Splice_Site_p.K219fs|IL6ST_ENST00000522633.2_Splice_Site_p.K219fs|IL6ST_ENST00000381286.3_Intron|IL6ST_ENST00000381294.3_Splice_Site_p.K219fs|IL6ST_ENST00000536319.1_Splice_Site_p.K219fs|IL6ST_ENST00000336909.5_Splice_Site_p.K219fs|IL6ST_ENST00000502326.3_Splice_Site_p.K219fs|IL6ST_ENST00000381293.2_Intron|IL6ST_ENST00000577363.1_5'Flank	NM_001190981.1|NM_002184.3|NM_175767.2	NP_001177910.1|NP_002175.2|NP_786943.1	P40189	IL6RB_HUMAN	interleukin 6 signal transducer	219					ciliary neurotrophic factor-mediated signaling pathway (GO:0070120)|cytokine-mediated signaling pathway (GO:0019221)|glycogen metabolic process (GO:0005977)|interleukin-27-mediated signaling pathway (GO:0070106)|interleukin-6-mediated signaling pathway (GO:0070102)|leukemia inhibitory factor signaling pathway (GO:0048861)|negative regulation of apoptotic process (GO:0043066)|negative regulation of interleukin-6-mediated signaling pathway (GO:0070104)|oncostatin-M-mediated signaling pathway (GO:0038165)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of adaptive immune response (GO:0002821)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|positive regulation of cell proliferation (GO:0008284)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of Notch signaling pathway (GO:0008593)|response to cytokine (GO:0034097)|viral process (GO:0016032)	ciliary neurotrophic factor receptor complex (GO:0070110)|dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|interleukin-6 receptor complex (GO:0005896)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|oncostatin-M receptor complex (GO:0005900)|plasma membrane (GO:0005886)	ciliary neurotrophic factor receptor activity (GO:0004897)|ciliary neurotrophic factor receptor binding (GO:0005127)|growth factor binding (GO:0019838)|interleukin-11 receptor activity (GO:0004921)|interleukin-27 receptor activity (GO:0045509)|protein homodimerization activity (GO:0042803)			breast(2)|endometrium(5)|kidney(5)|large_intestine(4)|liver(2)|lung(1)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	26		Lung NSC(810;8.69e-05)|Prostate(74;0.00308)|Breast(144;0.0544)|Ovarian(174;0.223)				TATAACTACCTTTATATACAG	0.294			O		hepatocellular ca																																	ENST00000381298.2				Dom	yes		5	5q11	3572	O	"interleukin 6 signal transducer (gp130, oncostatin M receptor)"			E			hepatocellular ca		0				breast(2)|endometrium(5)|kidney(5)|large_intestine(4)|liver(2)|lung(1)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	26						c.e6+1		interleukin 6 signal transducer (gp130, oncostatin M receptor)							86	84	85					5																	55259975		2203	4300	6503	SO:0001630	splice_region_variant	3572				interleukin-6-mediated signaling pathway|leukemia inhibitory factor signaling pathway|negative regulation of interleukin-6-mediated signaling pathway|positive regulation of anti-apoptosis|positive regulation of cardiac muscle hypertrophy|positive regulation of osteoblast differentiation|positive regulation of T cell proliferation|positive regulation of tyrosine phosphorylation of Stat1 protein|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation vascular endothelial growth factor production	ciliary neurotrophic factor receptor complex|extracellular region|extracellular space|interleukin-6 receptor complex|oncostatin-M receptor complex	ciliary neurotrophic factor receptor activity|ciliary neurotrophic factor receptor binding|growth factor binding|protein homodimerization activity	g.chr5:55259975delT	M57230	CCDS3971.1, CCDS47209.1, CCDS54856.1	5q11.2	2014-04-04	2014-04-04		ENSG00000134352	ENSG00000134352		"Interleukins and interleukin receptors", "CD molecules", "Fibronectin type III domain containing"	6021	protein-coding gene	gene with protein product	"gp130, oncostatin M receptor"	600694	"interleukin 6 signal transducer (gp130, oncostatin M receptor)"			2261637	Standard	NM_002184		Approved	GP130, CD130	uc003jqq.3	P40189	OTTHUMG00000097043	ENST00000381298.2:c.658+1A>-	5.37:g.55259975delT						IL6ST_ENST00000536319.1_Splice_Site_p.K219_splice|IL6ST_ENST00000336909.5_Splice_Site_p.K219_splice|IL6ST_ENST00000502326.3_Splice_Site_p.K219_splice|IL6ST_ENST00000381286.3_Intron|IL6ST_ENST00000381293.2_Intron|IL6ST_ENST00000381287.4_Splice_Site_p.K219_splice|IL6ST_ENST00000522633.2_Splice_Site_p.K219_splice|IL6ST_ENST00000381294.3_Splice_Site_p.K219_splice	p.K219_splice	NM_001190981.1|NM_002184.3|NM_175767.2	NP_001177910.1|NP_002175.2|NP_786943.1	P40189	IL6RB_HUMAN			6	969	-		Lung NSC(810;8.69e-05)|Prostate(74;0.00308)|Breast(144;0.0544)|Ovarian(174;0.223)	219					A0N0L4|Q5FC04|Q9UQ41	Splice_Site	DEL	ENST00000381298.2	37	c.658_splice	CCDS3971.1																																																																																				0.294	IL6ST-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000214146.3	NM_002184	Frame_Shift_Del	9	23						9	23	---	---	---	---	-	55259975	T	-	55259975	8	5	306	1	0	1	0	1	0	0	1	0	7703	1623	56	0	2147	0	IL6ST	5	55259975	Splice_Site	DEL	T	TCGA-KK-A59X-01A-11D-A29Q-08	15882968	55259975	125655285	11	15670											
YTHDC2	64848	broad.mit.edu	37	chr5	112889507	112889507	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	caaatatgcaaacatccgatCaaaagaaagtattaaaaaac	23	7	4	7	1	1	1	1	0	0	1	2	2	2	1	1	0	3	2	1	0	10	3			TCGA-KK-A59X-01A-11D-A29Q-08	TCGA-KK-A59X-11A-21D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f555699-002c-43d7-b5ef-22deebbae2a5	2e17d22b-df41-4ea2-afd3-edce529c9a20	g.chr5:112889507C>T	ENST00000161863.4	+	15	2221	c.2008C>T	c.(2008-2010)Caa>Taa	p.Q670*	YTHDC2_ENST00000515883.1_Nonsense_Mutation_p.Q670*	NM_022828.3	NP_073739.3	Q9H6S0	YTDC2_HUMAN	YTH domain containing 2	670	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				ATP catabolic process (GO:0006200)|positive regulation by host of viral genome replication (GO:0044829)|response to interleukin-1 (GO:0070555)|response to tumor necrosis factor (GO:0034612)	endoplasmic reticulum (GO:0005783)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|RNA polymerase binding (GO:0070063)|RNA-dependent ATPase activity (GO:0008186)			NS(2)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(13)|lung(10)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43		all_cancers(142;7.69e-05)|all_epithelial(76;6.42e-07)|Colorectal(10;0.00278)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Lung NSC(810;0.143)|all_lung(232;0.163)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;7.2e-08)|Epithelial(69;8.83e-08)|all cancers(49;6.9e-06)|COAD - Colon adenocarcinoma(37;0.0458)|Colorectal(14;0.0594)		AACATCCGATCAAAAGAAAGT	0.303																																						ENST00000161863.4																			0				NS(2)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(13)|lung(10)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43						c.(2008-2010)Caa>Taa		YTH domain containing 2							67	69	68					5																	112889507		2200	4299	6499	SO:0001587	stop_gained	64848						ATP binding|ATP-dependent helicase activity|nucleic acid binding	g.chr5:112889507C>T	AK000915	CCDS4113.1	5q22.3	2008-02-05			ENSG00000047188	ENSG00000047188			24721	protein-coding gene	gene with protein product						12477932	Standard	NM_022828		Approved	FLJ2194, FLJ10053, DKFZp564A186	uc003kqn.3	Q9H6S0	OTTHUMG00000128837	ENST00000161863.4:c.2008C>T	5.37:g.112889507C>T	ENSP00000161863:p.Gln670*					YTHDC2_ENST00000515883.1_Nonsense_Mutation_p.Q670*	p.Q670*	NM_022828.3	NP_073739.3	Q9H6S0	YTDC2_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;7.2e-08)|Epithelial(69;8.83e-08)|all cancers(49;6.9e-06)|COAD - Colon adenocarcinoma(37;0.0458)|Colorectal(14;0.0594)	15	2221	+		all_cancers(142;7.69e-05)|all_epithelial(76;6.42e-07)|Colorectal(10;0.00278)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Lung NSC(810;0.143)|all_lung(232;0.163)|Breast(839;0.244)	670			Helicase C-terminal.		B2RP66	Nonsense_Mutation	SNP	ENST00000161863.4	37	c.2008C>T	CCDS4113.1	.	.	.	.	.	.	.	.	.	.	C	39	7.630563	0.98399	.	.	ENSG00000047188	ENST00000161863;ENST00000515883;ENST00000511372	.	.	.	5.51	5.51	0.81932	.	0.058686	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	19.3947	0.94603	0.0:1.0:0.0:0.0	.	.	.	.	X	670;670;580	.	ENSP00000161863:Q670X	Q	+	1	0	YTHDC2	112917406	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	6.937000	0.75898	2.572000	0.86782	0.650000	0.86243	CAA		0.303	YTHDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250776.2	NM_022828		19	26	0	0	0	1	0	19	26					T	112889507	C	T	112889507	4	4	306	1	0	0	0	0	0	1	0	0	17494	827	29	3	2066	3	YTHDC2	5	112889507	Nonsense_Mutation	SNP	C	TCGA-KK-A59X-01A-11D-A29Q-08	57629532	112889507	68025753	12	15671											
SLC4A9	83697	broad.mit.edu	37	chr5	139743379	139743379	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taccccagcgatttcttggaCgccctgcatctccagtgctt	6	12	8	15	2	2	0	0	0	2	0	3	2	2	1	4	1	4	2	4	1	1	4			TCGA-KK-A59X-01A-11D-A29Q-08	TCGA-KK-A59X-11A-21D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f555699-002c-43d7-b5ef-22deebbae2a5	2e17d22b-df41-4ea2-afd3-edce529c9a20	g.chr5:139743379C>T	ENST00000230993.6	+	9	1253	c.1218C>T	c.(1216-1218)gaC>gaT	p.D406D	SLC4A9_ENST00000507527.1_Silent_p.D406D|SLC4A9_ENST00000506757.2_Silent_p.D382D|SLC4A9_ENST00000506545.1_Silent_p.D382D|SLC4A9_ENST00000432095.2_Silent_p.D371D	NM_001258428.1	NP_001245357.1	Q96Q91	B3A4_HUMAN	solute carrier family 4, sodium bicarbonate cotransporter, member 9	406					bicarbonate transport (GO:0015701)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)			endometrium(4)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)	14			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATTTCTTGGACGCCCTGCATC	0.582											OREG0016461	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000230993.6																			0				endometrium(4)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)	14						c.(1216-1218)gaC>gaT		solute carrier family 4, sodium bicarbonate cotransporter, member 9							48	50	49					5																	139743379		2093	4209	6302	SO:0001819	synonymous_variant	83697					integral to membrane|plasma membrane	inorganic anion exchanger activity|sodium:bicarbonate symporter activity	g.chr5:139743379C>T	AF313465	CCDS47278.1, CCDS58973.1, CCDS58974.1, CCDS58975.1	5q31.3	2013-05-22			ENSG00000113073	ENSG00000113073		"Solute carriers"	11035	protein-coding gene	gene with protein product		610207				11305939	Standard	NM_031467		Approved	AE4	uc003lfk.2	Q96Q91	OTTHUMG00000163352	ENST00000230993.6:c.1218C>T	5.37:g.139743379C>T			OREG0016461	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1651	SLC4A9_ENST00000506757.2_Silent_p.D382D|SLC4A9_ENST00000506545.1_Silent_p.D382D|SLC4A9_ENST00000507527.1_Silent_p.D406D|SLC4A9_ENST00000432095.2_Silent_p.D371D	p.D406D	NM_001258428.1	NP_001245357.1	Q96Q91	B3A4_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		9	1253	+			406					B7ZL63|D3DQD4|D3DQD5|D3DQD6|E9PDK1|Q96RM5|Q9BXF2|Q9BXN3	Silent	SNP	ENST00000230993.6	37	c.1218C>T	CCDS58973.1																																																																																				0.582	SLC4A9-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000372823.1	NM_031467		30	47	0	0	0	1	0	30	47					T	139743379	C	T	139743379	2	4	306	1	0	0	0	0	0	0	0	1	14660	535	19	1		1	SLC4A9	5	139743379	Silent	SNP	C	TCGA-KK-A59X-01A-11D-A29Q-08	26853872	139743379	41171881	13	15672											
IRF4	3662	broad.mit.edu	37	chr6	397192	397193	+	Frame_Shift_Ins	INS	-	-	AA																															acacccggaaatcccgtaccINSaatgtcccatgacgtttgga																										TCGA-KK-A59X-01A-11D-A29Q-08	TCGA-KK-A59X-11A-21D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f555699-002c-43d7-b5ef-22deebbae2a5	2e17d22b-df41-4ea2-afd3-edce529c9a20	g.chr6:397192_397193insAA	ENST00000380956.4	+	5	703_704	c.577_578insAA	c.(577-579)caafs	p.Q193fs	IRF4_ENST00000495137.1_3'UTR	NM_001195286.1|NM_002460.3	NP_001182215.1|NP_002451.2	Q15306	IRF4_HUMAN	interferon regulatory factor 4	193					cytokine-mediated signaling pathway (GO:0019221)|defense response to protozoan (GO:0042832)|histone H3 acetylation (GO:0043966)|histone H4 acetylation (GO:0043967)|interferon-gamma-mediated signaling pathway (GO:0060333)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|positive regulation of DNA binding (GO:0043388)|positive regulation of interleukin-10 biosynthetic process (GO:0045082)|positive regulation of interleukin-13 biosynthetic process (GO:0045368)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of interleukin-4 biosynthetic process (GO:0045404)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of T-helper cell differentiation (GO:0045622)|T cell activation (GO:0042110)|T-helper 17 cell lineage commitment (GO:0072540)|transcription, DNA-templated (GO:0006351)|type I interferon signaling pathway (GO:0060337)	cytosol (GO:0005829)|membrane (GO:0016020)|nuclear nucleosome (GO:0000788)|nucleus (GO:0005634)	protein-lysine N-methyltransferase activity (GO:0016279)|regulatory region DNA binding (GO:0000975)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)	5		Breast(5;0.0155)|all_lung(73;0.0691)|all_hematologic(90;0.0895)		OV - Ovarian serous cystadenocarcinoma(45;0.03)|BRCA - Breast invasive adenocarcinoma(62;0.0702)		AATCCCGTACCAATGTCCCATG	0.554			T	IGH@	MM																																	ENST00000380956.4				Dom	yes		6	6p25-p23	3662	T	interferon regulatory factor 4			L	IGH@		MM		0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)	5						c.(577-579)atgfs		interferon regulatory factor 4																																				SO:0001589	frameshift_variant	3662				interferon-gamma-mediated signaling pathway|positive regulation of interleukin-10 biosynthetic process|positive regulation of interleukin-13 biosynthetic process|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-4 biosynthetic process|positive regulation of transcription, DNA-dependent|regulation of T-helper cell differentiation|T cell activation|type I interferon-mediated signaling pathway	cytoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding	g.chr6:397192_397193insAA	U52682	CCDS4469.1	6p25-p23	2008-08-29			ENSG00000137265	ENSG00000137265			6119	protein-coding gene	gene with protein product		601900		MUM1		8921401, 18417578	Standard	NM_002460		Approved	LSIRF	uc003msz.4	Q15306	OTTHUMG00000016294	ENST00000380956.4:c.578_579dupAA	6.37:g.397193_397194dupAA	ENSP00000370343:p.Gln193fs					IRF4_ENST00000495137.1_3'UTR	p.M193fs	NM_001195286.1|NM_002460.3	NP_001182215.1|NP_002451.2	Q15306	IRF4_HUMAN		OV - Ovarian serous cystadenocarcinoma(45;0.03)|BRCA - Breast invasive adenocarcinoma(62;0.0702)	5	703_704	+		Breast(5;0.0155)|all_lung(73;0.0691)|all_hematologic(90;0.0895)	193					Q5VUI7|Q99660	Frame_Shift_Ins	INS	ENST00000380956.4	37	c.577_578insAA	CCDS4469.1																																																																																				0.554	IRF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043638.1			119	161						119	161	---	---	---	---	AA	397193	-	AA	397192	7	5	306	1	0	1	1	0	0	0	0	0	7832	595	21	0	591	0	IRF4	6	397192	Frame_Shift_Ins	INS	-	TCGA-KK-A59X-01A-11D-A29Q-08		397192	170717875	14	15673											
KIF13A	63971	broad.mit.edu	37	chr6	17777528	17777528	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attatgaacatttggtgtacTgaggctcctccgaatgtgcc	9	13	10	9	1	0	2	0	2	0	0	2	3	2	2	3	2	3	2	3	2	4	3			TCGA-KK-A59X-01A-11D-A29Q-08	TCGA-KK-A59X-11A-21D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f555699-002c-43d7-b5ef-22deebbae2a5	2e17d22b-df41-4ea2-afd3-edce529c9a20	g.chr6:17777528T>C	ENST00000259711.6	-	34	4255	c.4150A>G	c.(4150-4152)Agt>Ggt	p.S1384G	KIF13A_ENST00000378814.5_Missense_Mutation_p.S1371G|KIF13A_ENST00000378843.2_Missense_Mutation_p.S1371G|KIF13A_ENST00000378826.2_Missense_Mutation_p.S1384G|KIF13A_ENST00000378816.5_Missense_Mutation_p.S1384G	NM_022113.5	NP_071396.4	Q9H1H9	KI13A_HUMAN	kinesin family member 13A	1384					ATP catabolic process (GO:0006200)|cargo loading into vesicle (GO:0035459)|cytokinesis (GO:0000910)|endosome to lysosome transport (GO:0008333)|Golgi to plasma membrane protein transport (GO:0043001)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|plus-end-directed vesicle transport along microtubule (GO:0072383)	centrosome (GO:0005813)|endosome membrane (GO:0010008)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|midbody (GO:0030496)|trans-Golgi network membrane (GO:0032588)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	64	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	all cancers(50;0.0865)|Epithelial(50;0.0974)			TTTGGTGTACTGAGGCTCCTC	0.453																																						ENST00000378814.5																			0				breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	64						c.(4111-4113)Agt>Ggt		kinesin family member 13A							73	78	76					6																	17777528		1953	4150	6103	SO:0001583	missense	63971				cargo loading into vesicle|cell cycle|cytokinesis|endosome to lysosome transport|Golgi to plasma membrane protein transport|melanosome organization|plus-end-directed vesicle transport along microtubule	centrosome|endosome membrane|microtubule|midbody|trans-Golgi network membrane	ATP binding|microtubule motor activity|protein binding	g.chr6:17777528T>C	AJ291578	CCDS47380.1, CCDS47381.1, CCDS54967.1, CCDS54968.1, CCDS58998.1	6p23	2008-10-21			ENSG00000137177	ENSG00000137177		"Kinesins"	14566	protein-coding gene	gene with protein product		605433				11106728	Standard	NM_022113		Approved	bA500C11.2	uc003ncg.4	Q9H1H9	OTTHUMG00000014313	ENST00000259711.6:c.4150A>G	6.37:g.17777528T>C	ENSP00000259711:p.Ser1384Gly					KIF13A_ENST00000378816.5_Missense_Mutation_p.S1384G|KIF13A_ENST00000378826.2_Missense_Mutation_p.S1384G|KIF13A_ENST00000378843.2_Missense_Mutation_p.S1371G|KIF13A_ENST00000259711.6_Missense_Mutation_p.S1384G	p.S1371G	NM_001105568.2	NP_001099038.1	Q9H1H9	KI13A_HUMAN	all cancers(50;0.0865)|Epithelial(50;0.0974)		33	4110	-	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	1384					A0JP21|A0JP22|F2Z382|Q5THQ2|Q5THQ3|Q9H193|Q9H194|Q9H1H8	Missense_Mutation	SNP	ENST00000259711.6	37	c.4111A>G	CCDS47381.1	.	.	.	.	.	.	.	.	.	.	T	28.2	4.896442	0.91962	.	.	ENSG00000137177	ENST00000378814;ENST00000502297;ENST00000259711;ENST00000378826;ENST00000378843;ENST00000378816	T;T;T;T;T;T	0.74421	-0.82;1.56;-0.84;-0.81;-0.82;-0.81	5.6	5.6	0.85130	.	0.000000	0.85682	D	0.000000	D	0.84750	0.5541	M	0.82517	2.595	0.58432	D	0.999999	D;D;D;D	0.76494	0.999;0.999;0.999;0.992	D;D;D;D	0.77557	0.954;0.99;0.979;0.984	D	0.87056	0.2150	10	0.66056	D	0.02	.	16.0773	0.80976	0.0:0.0:0.0:1.0	.	1371;1384;1384;1371	Q9H1H9-4;Q9H1H9-2;Q9H1H9;Q9H1H9-3	.;.;KI13A_HUMAN;.	G	1371;388;1384;1384;1371;1384	ENSP00000368091:S1371G;ENSP00000425616:S388G;ENSP00000259711:S1384G;ENSP00000368103:S1384G;ENSP00000368120:S1371G;ENSP00000368093:S1384G	ENSP00000259711:S1384G	S	-	1	0	KIF13A	17885507	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.655000	0.83696	2.254000	0.74563	0.482000	0.46254	AGT		0.453	KIF13A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000039954.4			9	17	0	0	0	1	0	9	17					C	17777528	T	C	17777528	3	2	306	1	0	0	0	0	1	0	0	0	8274	1580	55	4	1316	4	KIF13A	6	17777528	Missense_Mutation	SNP	T	TCGA-KK-A59X-01A-11D-A29Q-08	17380336	17777528	153337539	15	15674											
DEF6	50619	broad.mit.edu	37	chr6	35285708	35285708	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaagcgctgcatgttctgtgTgaagacagccaaccgcacgt	11	8	11	11	3	1	2	0	1	1	1	1	2	1	2	2	0	4	4	2	0	3	1			TCGA-KK-A59X-01A-11D-A29Q-08	TCGA-KK-A59X-11A-21D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f555699-002c-43d7-b5ef-22deebbae2a5	2e17d22b-df41-4ea2-afd3-edce529c9a20	g.chr6:35285708T>G	ENST00000316637.5	+	6	853	c.848T>G	c.(847-849)gTg>gGg	p.V283G	DEF6_ENST00000542066.1_Missense_Mutation_p.V28G|DEF6_ENST00000468102.1_3'UTR	NM_022047.3	NP_071330.3	Q9H4E7	DEFI6_HUMAN	differentially expressed in FDCP 6 homolog (mouse)	283	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.					cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				cervix(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)	15						ATGTTCTGTGTGAAGACAGCC	0.657																																						ENST00000316637.5																			0				cervix(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)	15						c.(847-849)gTg>gGg		differentially expressed in FDCP 6 homolog (mouse)							53	48	50					6																	35285708		2203	4300	6503	SO:0001583	missense	50619					cytoplasm|nucleus|plasma membrane		g.chr6:35285708T>G	AJ276095	CCDS4802.1	6p21.33-p21.1	2013-01-10	2001-11-28		ENSG00000023892	ENSG00000023892		"Pleckstrin homology (PH) domain containing"	2760	protein-coding gene	gene with protein product	"SWAP-70-like adaptor protein of T cells"	610094	"differentially expressed in FDCP (mouse homolog) 6"			19251698	Standard	NM_022047		Approved	IBP, SLAT, SWAP70L	uc003okk.3	Q9H4E7	OTTHUMG00000014563	ENST00000316637.5:c.848T>G	6.37:g.35285708T>G	ENSP00000319831:p.Val283Gly					DEF6_ENST00000468102.1_3'UTR|DEF6_ENST00000542066.1_Missense_Mutation_p.V28G	p.V283G	NM_022047.3	NP_071330.3	Q9H4E7	DEFI6_HUMAN			6	853	+			283			PH.		Q86VF4	Missense_Mutation	SNP	ENST00000316637.5	37	c.848T>G	CCDS4802.1	.	.	.	.	.	.	.	.	.	.	T	33	5.280348	0.95489	.	.	ENSG00000023892	ENST00000542066;ENST00000316637	T;T	0.36340	1.26;2.31	5.35	5.35	0.76521	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.068949	0.64402	D	0.000015	T	0.62122	0.2402	M	0.94063	3.49	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.70487	0.93;0.969;0.969	T	0.74112	-0.3770	10	0.87932	D	0	-37.4619	13.9142	0.63887	0.0:0.0:0.0:1.0	.	28;283;283	F5H853;B2RBP7;Q9H4E7	.;.;DEFI6_HUMAN	G	28;283	ENSP00000442166:V28G;ENSP00000319831:V283G	ENSP00000319831:V283G	V	+	2	0	DEF6	35393686	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	8.040000	0.89188	2.035000	0.60131	0.377000	0.23210	GTG		0.657	DEF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040276.1	NM_022047		20	26	0	0	0	1	0	20	26					G	35285708	T	G	35285708	3	3	306	1	0	0	0	0	1	0	0	0	4386	1696	59	5	870	5	DEF6	6	35285708	Missense_Mutation	SNP	T	TCGA-KK-A59X-01A-11D-A29Q-08	17508180	35285708	135829359	16	15675											
DNAH8	1769	broad.mit.edu	37	chr6	38906615	38906615	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcaaaagagaattacaaataTtatcgagtacctgacatatg	18	11	6	6	1	1	2	1	1	0	1	2	4	1	2	1	0	2	1	1	0	9	5			TCGA-KK-A59X-01A-11D-A29Q-08	TCGA-KK-A59X-11A-21D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f555699-002c-43d7-b5ef-22deebbae2a5	2e17d22b-df41-4ea2-afd3-edce529c9a20	g.chr6:38906615T>C	ENST00000359357.3	+	77	11461	c.11207T>C	c.(11206-11208)aTt>aCt	p.I3736T	DNAH8_ENST00000449981.2_Missense_Mutation_p.I3953T|DNAH8_ENST00000441566.1_Missense_Mutation_p.I3700T|RP1-207H1.3_ENST00000416948.1_RNA			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	3736					cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						ATTACAAATATTATCGAGTAC	0.328																																						ENST00000359357.3																			0				NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						c.(11206-11208)aTt>aCt		dynein, axonemal, heavy chain 8							81	78	79					6																	38906615		2203	4300	6503	SO:0001583	missense	1769							g.chr6:38906615T>C	Z83806	CCDS75447.1	6p21.2	2012-04-19	2006-09-04		ENSG00000124721	ENSG00000124721		"Axonemal dyneins"	2952	protein-coding gene	gene with protein product		603337	"dynein, axonemal, heavy polypeptide 8"			9373155	Standard	NM_001206927		Approved	hdhc9	uc021yzh.1	Q96JB1	OTTHUMG00000016253	ENST00000359357.3:c.11207T>C	6.37:g.38906615T>C	ENSP00000352312:p.Ile3736Thr					RP1-207H1.3_ENST00000416948.1_RNA|DNAH8_ENST00000449981.2_Missense_Mutation_p.I3953T|DNAH8_ENST00000441566.1_Missense_Mutation_p.I3700T	p.I3736T							77	11461	+								O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Missense_Mutation	SNP	ENST00000359357.3	37	c.11207T>C		.	.	.	.	.	.	.	.	.	.	T	22.5	4.298758	0.81025	.	.	ENSG00000124721	ENST00000449981;ENST00000327475;ENST00000359357;ENST00000441566	T;T;T	0.60040	0.22;0.22;0.22	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	D	0.83243	0.5212	H	0.98629	4.285	0.80722	D	1	D;D	0.71674	0.998;0.997	D;D	0.74674	0.984;0.964	D	0.90015	0.4124	10	0.87932	D	0	.	16.1339	0.81465	0.0:0.0:0.0:1.0	.	3700;3736	Q96JB1-2;Q96JB1	.;DYH8_HUMAN	T	3941;3941;3736;3700	ENSP00000333363:I3941T;ENSP00000352312:I3736T;ENSP00000402294:I3700T	ENSP00000333363:I3941T	I	+	2	0	DNAH8	39014593	1.000000	0.71417	0.959000	0.39883	0.848000	0.48234	7.997000	0.88414	2.271000	0.75665	0.533000	0.62120	ATT		0.328	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000043574.1	NM_001206927		24	33	0	0	0	1	0	24	33					C	38906615	T	C	38906615	3	2	306	1	0	0	0	0	1	0	0	0	4607	1493	52	4	11505	4	DNAH8	6	38906615	Missense_Mutation	SNP	T	TCGA-KK-A59X-01A-11D-A29Q-08	3620907	38906615	132208452	17	15676											
KIAA1244	57221	broad.mit.edu	37	chr6	138611047	138611047	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttgtgcatggaggccatcCtcagcgtaggcctggagatg	7	10	14	10	1	2	1	1	0	1	1	3	3	3	2	3	4	2	2	3	4	1	2			TCGA-KK-A59X-01A-11D-A29Q-08	TCGA-KK-A59X-11A-21D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f555699-002c-43d7-b5ef-22deebbae2a5	2e17d22b-df41-4ea2-afd3-edce529c9a20	g.chr6:138611047C>G	ENST00000251691.4	+	18	3155	c.2989C>G	c.(2989-2991)Ctc>Gtc	p.L997V		NM_020340.4	NP_065073.3			KIAA1244											NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2)	44	Breast(32;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)		GGAGGCCATCCTCAGCGTAGG	0.602																																						ENST00000251691.4																			0				NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2)	44						c.(2989-2991)Ctc>Gtc		KIAA1244							85	71	76					6																	138611047		2203	4300	6503	SO:0001583	missense	57221				regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity	g.chr6:138611047C>G	AB033070	CCDS5189.2	6q23.3	2012-04-17			ENSG00000112379	ENSG00000112379		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	21213	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 33"		"chromosome 6 open reading frame 92"	C6orf92			Standard	NM_020340		Approved	dJ171N11.1, BIG3, PPP1R33	uc003qhu.3	Q5TH69	OTTHUMG00000015670	ENST00000251691.4:c.2989C>G	6.37:g.138611047C>G	ENSP00000251691:p.Leu997Val						p.L997V	NM_020340.4	NP_065073.3	Q5TH69	BIG3_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)	18	3155	+	Breast(32;0.135)		997						Missense_Mutation	SNP	ENST00000251691.4	37	c.2989C>G	CCDS5189.2	.	.	.	.	.	.	.	.	.	.	C	22.9	4.354630	0.82243	.	.	ENSG00000112379	ENST00000251691	T	0.36340	1.26	5.74	5.74	0.90152	.	0.459711	0.23738	N	0.045048	T	0.56978	0.2022	M	0.73962	2.25	0.58432	D	0.999993	D	0.69078	0.997	D	0.72625	0.978	T	0.59354	-0.7470	10	0.72032	D	0.01	-5.8944	19.9295	0.97114	0.0:1.0:0.0:0.0	.	997	Q5TH69	BIG3_HUMAN	V	997	ENSP00000251691:L997V	ENSP00000251691:L997V	L	+	1	0	KIAA1244	138652740	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.066000	0.71185	2.695000	0.91970	0.655000	0.94253	CTC		0.602	KIAA1244-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042425.4	NM_020340		39	59	0	0	0	1	0	39	59					G	138611047	C	G	138611047	3	3	306	1	0	0	0	0	1	0	0	0	8217	681	24	5	3059	5	KIAA1244	6	138611047	Missense_Mutation	SNP	C	TCGA-KK-A59X-01A-11D-A29Q-08	99704432	138611047	32504020	18	15677											
UTRN	7402	broad.mit.edu	37	chr6	144837472	144837472	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttagaaaatgacatagaaaaTatgttaaaatttgtggaaaa	21	12	7	1	0	0	3	0	1	0	2	0	4	0	4	0	1	0	1	0	1	11	5			TCGA-KK-A59X-01A-11D-A29Q-08	TCGA-KK-A59X-11A-21D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f555699-002c-43d7-b5ef-22deebbae2a5	2e17d22b-df41-4ea2-afd3-edce529c9a20	g.chr6:144837472T>C	ENST00000367545.3	+	37	5352	c.5352T>C	c.(5350-5352)aaT>aaC	p.N1784N		NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	1784					aging (GO:0007568)|muscle cell differentiation (GO:0042692)|muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|neuron projection morphogenesis (GO:0048812)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of sodium ion transmembrane transporter activity (GO:2000649)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dystrophin-associated glycoprotein complex (GO:0016010)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane (GO:0016020)|membrane raft (GO:0045121)|myofibril (GO:0030016)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|protein kinase binding (GO:0019901)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		ACATAGAAAATATGTTAAAAT	0.353																																						ENST00000367545.3																			0				NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148						c.(5350-5352)aaT>aaC		utrophin							60	65	63					6																	144837472		2203	4298	6501	SO:0001819	synonymous_variant	7402				muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding	g.chr6:144837472T>C	AK023675	CCDS34547.1	6q24	2008-02-05	2006-12-13		ENSG00000152818	ENSG00000152818			12635	protein-coding gene	gene with protein product		128240	"utrophin (homologous to dystrophin)"	DMDL		1426262	Standard	NM_007124		Approved	DRP, DRP1	uc003qkt.3	P46939	OTTHUMG00000015746	ENST00000367545.3:c.5352T>C	6.37:g.144837472T>C							p.N1784N	NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)	37	5352	+		Ovarian(120;0.218)	1784					Q5SYY1|Q5SZ57|Q9UJ40	Silent	SNP	ENST00000367545.3	37	c.5352T>C	CCDS34547.1																																																																																				0.353	UTRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042551.1			45	63	0	0	0	1	0	45	63					C	144837472	T	C	144837472	2	2	306	1	0	0	0	0	0	0	0	1	17100	1403	49	4		4	UTRN	6	144837472	Silent	SNP	T	TCGA-KK-A59X-01A-11D-A29Q-08	6226425	144837472	26277595	19	15678											
ESR1	2099	broad.mit.edu	37	chr6	152265313	152265313	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cacctgtgttttcagggataCgaaaagaccgaagaggaggg	13	7	14	7	2	1	2	1	0	0	2	1	6	1	4	2	3	1	1	2	3	4	3			TCGA-KK-A59X-01A-11D-A29Q-08	TCGA-KK-A59X-11A-21D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f555699-002c-43d7-b5ef-22deebbae2a5	2e17d22b-df41-4ea2-afd3-edce529c9a20	g.chr6:152265313C>T	ENST00000206249.3	+	4	1128	c.766C>T	c.(766-768)Cga>Tga	p.R256*	ESR1_ENST00000338799.5_Nonsense_Mutation_p.R256*|ESR1_ENST00000456483.2_Intron|ESR1_ENST00000427531.2_Nonsense_Mutation_p.R83*|ESR1_ENST00000406599.1_Intron|ESR1_ENST00000443427.1_Nonsense_Mutation_p.R256*|ESR1_ENST00000440973.1_Nonsense_Mutation_p.R256*|ESR1_ENST00000482101.1_3'UTR	NM_000125.3	NP_000116.2	P03372	ESR1_HUMAN	estrogen receptor 1	256	Hinge.|Mediates interaction with DNTTIP2.				androgen metabolic process (GO:0008209)|antral ovarian follicle growth (GO:0001547)|cellular response to estradiol stimulus (GO:0071392)|chromatin remodeling (GO:0006338)|epithelial cell development (GO:0002064)|epithelial cell proliferation involved in mammary gland duct elongation (GO:0060750)|gene expression (GO:0010467)|intracellular estrogen receptor signaling pathway (GO:0030520)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|male gonad development (GO:0008584)|mammary gland alveolus development (GO:0060749)|mammary gland branching involved in pregnancy (GO:0060745)|negative regulation of gene expression (GO:0010629)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of retinoic acid receptor signaling pathway (GO:0048386)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis (GO:0060527)|prostate epithelial cord elongation (GO:0060523)|regulation of apoptotic process (GO:0042981)|regulation of branching involved in prostate gland morphogenesis (GO:0060687)|regulation of transcription, DNA-templated (GO:0006355)|response to estradiol (GO:0032355)|response to estrogen (GO:0043627)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|uterus development (GO:0060065)|vagina development (GO:0060068)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|transcriptionally active chromatin (GO:0035327)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|core promoter sequence-specific DNA binding (GO:0001046)|enzyme binding (GO:0019899)|estrogen receptor activity (GO:0030284)|estrogen response element binding (GO:0034056)|estrogen-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0038052)|identical protein binding (GO:0042802)|nitric-oxide synthase regulator activity (GO:0030235)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(19)|ovary(1)|prostate(2)|skin(1)	49		Ovarian(120;0.0448)	BRCA - Breast invasive adenocarcinoma(37;0.0841)	OV - Ovarian serous cystadenocarcinoma(155;4.55e-10)	Allylestrenol(DB01431)|Clomifene(DB00882)|Conjugated Estrogens(DB00286)|Danazol(DB01406)|Desogestrel(DB00304)|Dienestrol(DB00890)|Diethylstilbestrol(DB00255)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estrone(DB00655)|Estropipate(DB04574)|Ethinyl Estradiol(DB00977)|Ethynodiol(DB00823)|Etonogestrel(DB00294)|Fluoxymesterone(DB01185)|Fulvestrant(DB00947)|Levonorgestrel(DB00367)|Medroxyprogesterone Acetate(DB00603)|Melatonin(DB01065)|Mestranol(DB01357)|Naloxone(DB01183)|Norgestimate(DB00957)|Ospemifene(DB04938)|Progesterone(DB00396)|Quinestrol(DB04575)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Toremifene(DB00539)|Trilostane(DB01108)	TTCAGGGATACGAAAAGACCG	0.413																																						ENST00000440973.1																			0				NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(19)|ovary(1)|prostate(2)|skin(1)	49						c.(766-768)Cga>Tga		estrogen receptor 1	Chlorotrianisene(DB00269)|Clomifene(DB00882)|Conjugated Estrogens(DB00286)|Danazol(DB01406)|Desogestrel(DB00304)|Dienestrol(DB00890)|Diethylstilbestrol(DB00255)|Dromostanolone(DB00858)|Drospirenone(DB01395)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estrone(DB00655)|Ethinyl Estradiol(DB00977)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Fluoxymesterone(DB01185)|Fulvestrant(DB00947)|Letrozole(DB01006)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Melatonin(DB01065)|Mestranol(DB01357)|Naloxone(DB01183)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396)|Quinestrol(DB04575)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Toremifene(DB00539)						54	60	58					6																	152265313		2203	4300	6503	SO:0001587	stop_gained	2099				positive regulation of retinoic acid receptor signaling pathway|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to estradiol stimulus	chromatin remodeling complex|cytoplasm|nucleoplasm	beta-catenin binding|enzyme binding|estrogen receptor activity|estrogen response element binding|nitric-oxide synthase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|zinc ion binding	g.chr6:152265313C>T	X03635	CCDS5234.1	6q24-q27	2013-01-16			ENSG00000091831	ENSG00000091831		"Nuclear hormone receptors"	3467	protein-coding gene	gene with protein product		133430		ESR		3754034	Standard	NM_000125		Approved	NR3A1, Era	uc003qon.4	P03372	OTTHUMG00000016103	ENST00000206249.3:c.766C>T	6.37:g.152265313C>T	ENSP00000206249:p.Arg256*					ESR1_ENST00000443427.1_Nonsense_Mutation_p.R256*|ESR1_ENST00000338799.5_Nonsense_Mutation_p.R256*|ESR1_ENST00000206249.3_Nonsense_Mutation_p.R256*|ESR1_ENST00000406599.1_Intron|ESR1_ENST00000544394.1_Nonsense_Mutation_p.R83*|ESR1_ENST00000482101.1_3'UTR|ESR1_ENST00000456483.2_Intron	p.R256*	NM_001122742.1	NP_001116214.1	P03372	ESR1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.0841)	OV - Ovarian serous cystadenocarcinoma(155;4.55e-10)	6	1136	+		Ovarian(120;0.0448)	256			Hinge.|Mediates interaction with DNTTIP2.		Q13511|Q14276|Q5T5H7|Q6MZQ9|Q9NU51|Q9UDZ7|Q9UIS7	Nonsense_Mutation	SNP	ENST00000206249.3	37	c.766C>T	CCDS5234.1	.	.	.	.	.	.	.	.	.	.	C	43	10.236297	0.99366	.	.	ENSG00000091831	ENST00000440973;ENST00000338799;ENST00000431219;ENST00000443427;ENST00000206249;ENST00000347491;ENST00000431590;ENST00000544394	.	.	.	5.61	3.71	0.42584	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.3643	0.66795	0.2695:0.7304:0.0:0.0	.	.	.	.	X	256;256;37;256;256;81;184;83	.	ENSP00000206249:R256X	R	+	1	2	ESR1	152307006	1.000000	0.71417	0.998000	0.56505	0.991000	0.79684	3.032000	0.49736	1.369000	0.46134	0.655000	0.94253	CGA		0.413	ESR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043308.1			51	87	0	0	0	1	0	51	87					T	152265313	C	T	152265313	4	4	306	1	0	0	0	0	0	1	0	0	5256	528	19	1	780	1	ESR1	6	152265313	Nonsense_Mutation	SNP	C	TCGA-KK-A59X-01A-11D-A29Q-08	7427841	152265313	18849754	20	15679											
AKAP9	10142	broad.mit.edu	37	chr7	91674411	91674411	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgttgaagaaacaattggtcGccatgtccttgggattctag	10	13	11	7	1	1	2	0	1	1	1	3	3	2	3	2	2	1	1	2	2	4	5			TCGA-KK-A59X-01A-11D-A29Q-08	TCGA-KK-A59X-11A-21D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f555699-002c-43d7-b5ef-22deebbae2a5	2e17d22b-df41-4ea2-afd3-edce529c9a20	g.chr7:91674411G>T	ENST00000359028.2	+	22	5513	c.5288G>T	c.(5287-5289)cGc>cTc	p.R1763L	AKAP9_ENST00000356239.3_Missense_Mutation_p.R1751L|AKAP9_ENST00000358100.2_Missense_Mutation_p.R1763L			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	1763					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|Sertoli cell development (GO:0060009)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)|synaptic transmission (GO:0007268)|transport (GO:0006810)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|pericentriolar material (GO:0000242)|voltage-gated potassium channel complex (GO:0008076)	ion channel binding (GO:0044325)|protein complex scaffold (GO:0032947)|receptor binding (GO:0005102)			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			ACAATTGGTCGCCATGTCCTT	0.408			T	BRAF	papillary thyroid																																	ENST00000359028.2				Dom	yes		7	7q21-q22	10142	T	A kinase (PRKA) anchor protein (yotiao) 9			E	BRAF		papillary thyroid		0				NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155						c.(5287-5289)cGc>cTc		A kinase (PRKA) anchor protein 9							109	111	110					7																	91674411		2203	4300	6503	SO:0001583	missense	10142				G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding	g.chr7:91674411G>T	AF091711	CCDS5622.1	7q21-q22	2014-09-17	2013-09-25		ENSG00000127914	ENSG00000127914		"A-kinase anchor proteins", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	379	protein-coding gene	gene with protein product	"A-kinase anchoring protein 450", "AKAP9-BRAF fusion protein", "AKAP120-like protein", "centrosome- and golgi-localized protein kinase N-associated protein", "protein kinase A anchoring protein 9", "A-kinase anchor protein, 350kDa", "protein phosphatase 1, regulatory subunit 45", "yotiao"	604001				9482789, 10390370, 24475373	Standard	NM_147185		Approved	KIAA0803, AKAP350, AKAP450, CG-NAP, YOTIAO, HYPERION, PRKA9, MU-RMS-40.16A, PPP1R45, LQT11	uc003ulg.3	Q99996	OTTHUMG00000131127	ENST00000359028.2:c.5288G>T	7.37:g.91674411G>T	ENSP00000351922:p.Arg1763Leu					AKAP9_ENST00000356239.3_Missense_Mutation_p.R1751L|AKAP9_ENST00000358100.2_Missense_Mutation_p.R1763L	p.R1763L			Q99996	AKAP9_HUMAN	STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)		22	5513	+	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		1763					A4D1F0|A4D1F2|A4D1F4|O14869|O43355|O94895|Q75N20|Q9UQH3|Q9UQQ4|Q9Y6B8|Q9Y6Y2	Missense_Mutation	SNP	ENST00000359028.2	37	c.5288G>T		.	.	.	.	.	.	.	.	.	.	G	14.71	2.617794	0.46736	.	.	ENSG00000127914	ENST00000356239;ENST00000359028;ENST00000358100;ENST00000413120	T;T;T	0.03212	4.01;4.01;4.01	4.54	4.54	0.55810	.	0.000000	0.42420	D	0.000712	T	0.11239	0.0274	L	0.56769	1.78	0.38156	D	0.938897	D;D;D	0.71674	0.997;0.998;0.998	P;D;D	0.80764	0.906;0.957;0.994	T	0.01378	-1.1370	10	0.49607	T	0.09	.	5.8198	0.18520	0.1595:0.0:0.6777:0.1628	.	1763;1751;1751	Q99996;Q99996-2;Q99996-3	AKAP9_HUMAN;.;.	L	1751;1763;1763;1763	ENSP00000348573:R1751L;ENSP00000351922:R1763L;ENSP00000350813:R1763L	ENSP00000348573:R1751L	R	+	2	0	AKAP9	91512347	0.931000	0.31567	1.000000	0.80357	0.998000	0.95712	1.437000	0.34991	2.520000	0.84964	0.650000	0.86243	CGC		0.408	AKAP9-202	KNOWN	basic	protein_coding	protein_coding		NM_005751		44	87	1	0	3.54909e-21	1	3.79555e-21	44	87					T	91674411	G	T	91674411	3	4	306	1	0	0	0	0	1	0	0	0	459	1087	38	5	5334	5	AKAP9	7	91674411	Missense_Mutation	SNP	G	TCGA-KK-A59X-01A-11D-A29Q-08		91674411	67464252	21	15680											
MLL3	58508	broad.mit.edu	37	chr7	151935890	151935890	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccaggaaggtgggctcactgTattatgggtactccaagccc	9	9	12	11	0	1	0	1	0	0	0	2	1	2	1	3	4	2	3	3	4	5	3			TCGA-KK-A59X-01A-11D-A29Q-08	TCGA-KK-A59X-11A-21D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f555699-002c-43d7-b5ef-22deebbae2a5	2e17d22b-df41-4ea2-afd3-edce529c9a20	g.chr7:151935890T>C	ENST00000262189.6	-	15	2772	c.2554A>G	c.(2554-2556)Aca>Gca	p.T852A	KMT2C_ENST00000355193.2_Missense_Mutation_p.T852A	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	852					histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										GGGCTCACTGTATTATGGGTA	0.453																																						ENST00000355193.2																			0											c.(2554-2556)Aca>Gca		lysine (K)-specific methyltransferase 2C							57	60	59					7																	151935890		2201	4299	6500	SO:0001583	missense	58508							g.chr7:151935890T>C	AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	13726	protein-coding gene	gene with protein product		606833	"myeloid/lymphoid or mixed-lineage leukemia 3"	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.2554A>G	7.37:g.151935890T>C	ENSP00000262189:p.Thr852Ala					KMT2C_ENST00000262189.6_Missense_Mutation_p.T852A	p.T852A							15	2772	-								Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Missense_Mutation	SNP	ENST00000262189.6	37	c.2554A>G	CCDS5931.1	.	.	.	.	.	.	.	.	.	.	T	12.87	2.068359	0.36470	.	.	ENSG00000055609	ENST00000262189;ENST00000355193	D;D	0.83755	-1.75;-1.76	5.53	4.39	0.52855	.	0.000000	0.45361	D	0.000371	T	0.71048	0.3294	N	0.22421	0.69	0.80722	D	1	B	0.29188	0.236	B	0.26416	0.069	T	0.66701	-0.5857	10	0.37606	T	0.19	.	11.2204	0.48851	0.0:0.0714:0.0:0.9286	.	852	Q8NEZ4	MLL3_HUMAN	A	852	ENSP00000262189:T852A;ENSP00000347325:T852A	ENSP00000262189:T852A	T	-	1	0	MLL3	151566823	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.098000	0.50259	1.049000	0.40321	0.528000	0.53228	ACA		0.453	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3			53	87	0	0	0	1	0	53	87					C	151935890	T	C	151935890	3	2	306	1	0	0	0	0	1	0	0	0	9622	1638	57	4	12361	4	MLL3	7	151935890	Missense_Mutation	SNP	T	TCGA-KK-A59X-01A-11D-A29Q-08	60261479	151935890	7202773	22	15681											
ADAM2	2515	broad.mit.edu	37	chr8	39624518	39624518	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttgcaatattcagggaggtcGcattcttcaaaggaaggcct	11	11	11	8	1	3	0	2	0	1	0	4	2	3	2	1	4	1	2	1	4	4	5			TCGA-KK-A59X-01A-11D-A29Q-08	TCGA-KK-A59X-11A-21D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f555699-002c-43d7-b5ef-22deebbae2a5	2e17d22b-df41-4ea2-afd3-edce529c9a20	g.chr8:39624518G>A	ENST00000265708.4	-	14	1459	c.1356C>T	c.(1354-1356)tgC>tgT	p.C452C	ADAM2_ENST00000347580.4_Silent_p.C433C|ADAM2_ENST00000521880.1_Silent_p.C452C|ADAM2_ENST00000379853.2_Silent_p.C326C	NM_001464.3	NP_001455.3	Q99965	ADAM2_HUMAN	ADAM metallopeptidase domain 2	452	Disintegrin. {ECO:0000255|PROSITE- ProRule:PRU00068}.				adult behavior (GO:0030534)|binding of sperm to zona pellucida (GO:0007339)|cell adhesion (GO:0007155)|fusion of sperm to egg plasma membrane (GO:0007342)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)|visual learning (GO:0008542)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(29)|ovary(3)|prostate(1)|skin(5)|urinary_tract(1)	53		all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246)	LUSC - Lung squamous cell carcinoma(45;0.000149)	READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162)		CAGGGAGGTCGCATTCTTCAA	0.398																																						ENST00000265708.4																			0				haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(29)|ovary(3)|prostate(1)|skin(5)|urinary_tract(1)	53						c.(1354-1356)tgC>tgT		ADAM metallopeptidase domain 2							157	140	146					8																	39624518		2203	4300	6503	SO:0001819	synonymous_variant	2515				cell adhesion|fusion of sperm to egg plasma membrane|proteolysis	integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding	g.chr8:39624518G>A	U52370	CCDS34884.1, CCDS64882.1, CCDS64883.1	8p11.2	2009-03-25	2008-07-31		ENSG00000104755	ENSG00000104755		"ADAM metallopeptidase domain containing"	198	protein-coding gene	gene with protein product	"cancer/testis antigen 15"	601533	"fertilin beta"	FTNB		8702389, 9070941	Standard	NM_001278113		Approved	PH-30b, PH30, CT15	uc003xnj.4	Q99965	OTTHUMG00000164041	ENST00000265708.4:c.1356C>T	8.37:g.39624518G>A						ADAM2_ENST00000347580.4_Silent_p.C433C|ADAM2_ENST00000521880.1_Silent_p.C452C|ADAM2_ENST00000379853.2_Silent_p.C326C	p.C452C	NM_001464.3	NP_001455.3	Q99965	ADAM2_HUMAN	LUSC - Lung squamous cell carcinoma(45;0.000149)	READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162)	14	1459	-		all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246)	452			Disintegrin.		P78326|Q9UQQ8	Silent	SNP	ENST00000265708.4	37	c.1356C>T	CCDS34884.1																																																																																				0.398	ADAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376926.1	NM_001464		96	121	0	0	0	1	0	96	121					A	39624518	G	A	39624518	2	1	306	1	0	0	0	0	0	0	0	1	241	1079	38	1		1	ADAM2	8	39624518	Silent	SNP	G	TCGA-KK-A59X-01A-11D-A29Q-08		39624518	106739504	23	15682											
RUNX1T1	862	broad.mit.edu	37	chr8	93004008	93004008	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aggcaggccattgggctggtAggataagccgttatttggac	9	10	15	7	1	0	0	0	0	0	0	0	2	0	2	2	6	1	4	2	6	3	5			TCGA-KK-A59X-01A-11D-A29Q-08	TCGA-KK-A59X-11A-21D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f555699-002c-43d7-b5ef-22deebbae2a5	2e17d22b-df41-4ea2-afd3-edce529c9a20	g.chr8:93004008A>G	ENST00000523629.1	-	7	1304	c.850T>C	c.(850-852)Tac>Cac	p.Y284H	RUNX1T1_ENST00000518844.1_Missense_Mutation_p.Y257H|RUNX1T1_ENST00000360348.2_Missense_Mutation_p.Y247H|RUNX1T1_ENST00000436581.2_Missense_Mutation_p.Y295H|RUNX1T1_ENST00000396218.1_Missense_Mutation_p.Y257H|RUNX1T1_ENST00000520724.1_Missense_Mutation_p.Y247H|RUNX1T1_ENST00000265814.3_Missense_Mutation_p.Y284H|RUNX1T1_ENST00000422361.2_Missense_Mutation_p.Y247H	NM_001198626.1|NM_001198630.1|NM_001198633.1|NM_175634.2	NP_001185555.1|NP_001185559.1|NP_001185562.1|NP_783552.1	Q06455	MTG8_HUMAN	runt-related transcription factor 1; translocated to, 1 (cyclin D-related)	284					fat cell differentiation (GO:0045444)|generation of precursor metabolites and energy (GO:0006091)|regulation of DNA binding (GO:0051101)|transcription, DNA-templated (GO:0006351)	nuclear matrix (GO:0016363)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	86			BRCA - Breast invasive adenocarcinoma(11;0.0141)			TTGGGCTGGTAGGATAAGCCG	0.532																																						ENST00000523629.1																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	86						c.(850-852)Tac>Cac		runt-related transcription factor 1; translocated to, 1 (cyclin D-related)							208	168	182					8																	93004008		2203	4300	6503	SO:0001583	missense	862				generation of precursor metabolites and energy	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:93004008A>G	D43638	CCDS6256.1, CCDS6257.1, CCDS47891.1, CCDS56544.1, CCDS75766.1, CCDS75767.1	8q22	2007-01-29	2005-01-20	2005-01-22	ENSG00000079102	ENSG00000079102		"Zinc fingers, MYND-type"	1535	protein-coding gene	gene with protein product		133435	"core-binding factor, runt domain, alpha subunit 2; translocated to, 1; cyclin D-related"	AML1T1, CBFA2T1		1391946, 9790752	Standard	NM_004349		Approved	CDR, ETO, MTG8, ZMYND2	uc011lgi.2	Q06455	OTTHUMG00000164066	ENST00000523629.1:c.850T>C	8.37:g.93004008A>G	ENSP00000428543:p.Tyr284His					RUNX1T1_ENST00000422361.2_Missense_Mutation_p.Y247H|RUNX1T1_ENST00000520724.1_Missense_Mutation_p.Y247H|RUNX1T1_ENST00000436581.2_Missense_Mutation_p.Y295H|RUNX1T1_ENST00000396218.1_Missense_Mutation_p.Y257H|RUNX1T1_ENST00000360348.2_Missense_Mutation_p.Y247H|RUNX1T1_ENST00000265814.3_Missense_Mutation_p.Y284H|RUNX1T1_ENST00000518844.1_Missense_Mutation_p.Y257H	p.Y284H	NM_001198626.1|NM_001198630.1|NM_001198633.1|NM_175634.2	NP_001185555.1|NP_001185559.1|NP_001185562.1|NP_783552.1	Q06455	MTG8_HUMAN	BRCA - Breast invasive adenocarcinoma(11;0.0141)		7	1304	-			284					B7Z4P4|E7EPN4|O14784|Q06456|Q14873|Q16239|Q16346|Q16347|Q6IBL1|Q6NXH1|Q7Z4J5|Q92479|Q9BRZ0	Missense_Mutation	SNP	ENST00000523629.1	37	c.850T>C	CCDS6256.1	.	.	.	.	.	.	.	.	.	.	A	13.95	2.389910	0.42410	.	.	ENSG00000079102	ENST00000523629;ENST00000396218;ENST00000265814;ENST00000360348;ENST00000422361;ENST00000520724;ENST00000436581;ENST00000518844	T;T;T;T;T;T;T;T	0.30981	1.52;1.53;1.52;1.53;1.53;1.53;1.51;1.53	6.17	6.17	0.99709	.	0.052601	0.85682	D	0.000000	T	0.14356	0.0347	N	0.02315	-0.6	0.58432	D	0.999999	B;B;B	0.06786	0.0;0.0;0.001	B;B;B	0.06405	0.0;0.002;0.001	T	0.21008	-1.0258	10	0.14656	T	0.56	-18.7768	16.4837	0.84171	1.0:0.0:0.0:0.0	.	295;284;257	E7EPN4;Q06455;Q06455-2	.;MTG8_HUMAN;.	H	284;257;284;247;247;247;295;257	ENSP00000428543:Y284H;ENSP00000379520:Y257H;ENSP00000265814:Y284H;ENSP00000353504:Y247H;ENSP00000390137:Y247H;ENSP00000428742:Y247H;ENSP00000402257:Y295H;ENSP00000430728:Y257H	ENSP00000265814:Y284H	Y	-	1	0	RUNX1T1	93073184	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.962000	0.93254	2.371000	0.80710	0.533000	0.62120	TAC		0.532	RUNX1T1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000377045.3	NM_004349, NM_175635		41	82	0	0	0	1	0	41	82					G	93004008	A	G	93004008	3	3	306	1	0	0	0	0	1	0	0	0	13747	420	15	4	988	4	RUNX1T1	8	93004008	Missense_Mutation	SNP	A	TCGA-KK-A59X-01A-11D-A29Q-08	53379490	93004008	53360014	24	15683											
VLDLR	7436	broad.mit.edu	37	chr9	2643660	2643661	+	Frame_Shift_Del	DEL	TG	TG	-																															gccgacctgaccaatttgaaTgtgaggatggcagctgcatc																										TCGA-KK-A59X-01A-11D-A29Q-08	TCGA-KK-A59X-11A-21D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f555699-002c-43d7-b5ef-22deebbae2a5	2e17d22b-df41-4ea2-afd3-edce529c9a20	g.chr9:2643660_2643661delTG	ENST00000382100.3	+	6	1209_1210	c.853_854delTG	c.(853-855)tgtfs	p.C285fs	VLDLR_ENST00000382099.2_Frame_Shift_Del_p.C285fs|RP11-125B21.2_ENST00000599229.1_RNA	NM_003383.3	NP_003374.3	P98155	VLDLR_HUMAN	very low density lipoprotein receptor	285	LDL-receptor class A 7. {ECO:0000255|PROSITE-ProRule:PRU00124}.				cholesterol metabolic process (GO:0008203)|glycoprotein transport (GO:0034436)|lipid transport (GO:0006869)|memory (GO:0007613)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|positive regulation of dendrite development (GO:1900006)|positive regulation of protein kinase activity (GO:0045860)|receptor-mediated endocytosis (GO:0006898)|reelin-mediated signaling pathway (GO:0038026)|signal transduction (GO:0007165)|ventral spinal cord development (GO:0021517)|very-low-density lipoprotein particle clearance (GO:0034447)	coated pit (GO:0005905)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|very-low-density lipoprotein particle (GO:0034361)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|calcium-dependent protein binding (GO:0048306)|glycoprotein binding (GO:0001948)|glycoprotein transporter activity (GO:0034437)|low-density lipoprotein receptor activity (GO:0005041)|reelin receptor activity (GO:0038025)|very-low-density lipoprotein particle binding (GO:0034189)|very-low-density lipoprotein particle receptor activity (GO:0030229)			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	24				GBM - Glioblastoma multiforme(50;0.0668)|Lung(218;0.123)		CCAATTTGAATGTGAGGATGGC	0.485																																						ENST00000382100.2																			0				breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	24						c.(853-855)tfs		very low density lipoprotein receptor																																				SO:0001589	frameshift_variant	7436				cholesterol metabolic process|endocytosis|lipid transport|memory|very-low-density lipoprotein particle clearance	coated pit|integral to membrane|membrane fraction|plasma membrane|very-low-density lipoprotein particle	apolipoprotein binding|calcium ion binding|low-density lipoprotein receptor activity|very-low-density lipoprotein particle receptor activity	g.chr9:2643660_2643661delTG		CCDS6446.1, CCDS34979.1	9p24	2014-01-24			ENSG00000147852	ENSG00000147852		"Low density lipoprotein receptors"	12698	protein-coding gene	gene with protein product		192977				8294473	Standard	XM_006716864		Approved	CARMQ1, CHRMQ1, VLDLRCH	uc003zhk.1	P98155	OTTHUMG00000019447	ENST00000382100.3:c.853_854delTG	9.37:g.2643662_2643663delTG	ENSP00000371532:p.Cys285fs					VLDLR_ENST00000382099.2_Frame_Shift_Del_p.C285fs	p.C285fs	NM_003383.3	NP_003374.3	P98155	VLDLR_HUMAN		GBM - Glioblastoma multiforme(50;0.0668)|Lung(218;0.123)	6	1209_1210	+			285			LDL-receptor class A 7.		B2RMZ7|D3DRH6|Q5VVF6	Frame_Shift_Del	DEL	ENST00000382100.3	37	c.853_854delTG	CCDS6446.1																																																																																				0.485	VLDLR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051519.2	NM_003383		40	43						40	43	---	---	---	---	-	2643661	TG	-	2643660	7	5	306	1	0	1	0	1	0	0	0	0	17171	1464	51	0	875	0	VLDLR	9	2643660	Frame_Shift_Del	DEL	TG	TCGA-KK-A59X-01A-11D-A29Q-08		2643660	138569771	25	15684											
MRPS2	51116	broad.mit.edu	37	chr9	138392971	138392971	+	Splice_Site	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gagtcggaggacagcaccggTaacactgggcgcccagccga	10	3	15	13	4	0	0	0	0	0	0	1	4	0	2	3	4	3	2	3	4	1	1			TCGA-KK-A59X-01A-11D-A29Q-08	TCGA-KK-A59X-11A-21D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f555699-002c-43d7-b5ef-22deebbae2a5	2e17d22b-df41-4ea2-afd3-edce529c9a20	g.chr9:138392971T>A	ENST00000371785.1	+	3	378		c.e3+2		C9orf116_ENST00000371791.1_Intron|MRPS2_ENST00000488610.1_Splice_Site|MRPS2_ENST00000241600.5_Splice_Site|C9orf116_ENST00000371789.3_5'Flank|RP11-426A6.5_ENST00000415062.1_RNA|C9orf116_ENST00000429260.2_5'Flank			Q9Y399	RT02_HUMAN	mitochondrial ribosomal protein S2						translation (GO:0006412)	mitochondrion (GO:0005739)|small ribosomal subunit (GO:0015935)	structural constituent of ribosome (GO:0003735)			large_intestine(2)|lung(1)|prostate(2)|urinary_tract(1)	6				OV - Ovarian serous cystadenocarcinoma(145;1.46e-53)|Epithelial(140;2.04e-47)|all cancers(34;1.23e-42)		ACAGCACCGGTAACACTGGGC	0.706																																						ENST00000371785.1																			0				large_intestine(2)|lung(1)|prostate(2)|urinary_tract(1)	6						c.e3+2		mitochondrial ribosomal protein S2							7	8	7					9																	138392971		2127	4214	6341	SO:0001630	splice_region_variant	51116				translation	mitochondrion|small ribosomal subunit	structural constituent of ribosome	g.chr9:138392971T>A	AB051627	CCDS6990.1	9q34	2012-09-13			ENSG00000122140	ENSG00000122140		"Mitochondrial ribosomal proteins / small subunits"	14495	protein-coding gene	gene with protein product		611971					Standard	NM_016034		Approved	CGI-91	uc004cfv.5	Q9Y399	OTTHUMG00000020910	ENST00000371785.1:c.169+2T>A	9.37:g.138392971T>A						C9orf116_ENST00000371791.1_Intron|MRPS2_ENST00000488610.1_Splice_Site|MRPS2_ENST00000241600.5_Splice_Site				Q9Y399	RT02_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.46e-53)|Epithelial(140;2.04e-47)|all cancers(34;1.23e-42)	3	378	+								Q5T899|Q9BSQ4	Splice_Site	SNP	ENST00000371785.1	37		CCDS6990.1	.	.	.	.	.	.	.	.	.	.	T	12.60	1.986619	0.35036	.	.	ENSG00000122140	ENST00000371785;ENST00000241600;ENST00000453385	.	.	.	3.85	2.62	0.31277	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.6816	0.28518	0.0:0.0:0.4237:0.5763	.	.	.	.	.	-1	.	.	.	+	.	.	MRPS2	137532792	0.932000	0.31603	0.070000	0.20053	0.003000	0.03518	1.033000	0.30191	1.517000	0.48917	0.402000	0.26972	.		0.706	MRPS2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000054998.1		Intron	3	6	0	0	0	1	0	3	6					A	138392971	T	A	138392971	5	1	306	1	0	0	0	0	0	0	1	0	9831	1652	57	5	177	5	MRPS2	9	138392971	Splice_Site	SNP	T	TCGA-KK-A59X-01A-11D-A29Q-08	135749311	138392971	2820460	26	15685											
SEPHS1	22929	broad.mit.edu	37	chr10	13371763	13371763	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggttttgtcagcaccagcaCgtcccctggcactgcattgt	6	11	11	13	1	1	0	1	0	0	0	2	0	2	0	3	2	3	5	3	2	0	3			TCGA-KK-A59X-01A-11D-A29Q-08	TCGA-KK-A59X-11A-21D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f555699-002c-43d7-b5ef-22deebbae2a5	2e17d22b-df41-4ea2-afd3-edce529c9a20	g.chr10:13371763C>T	ENST00000327347.5	-	6	961	c.586G>A	c.(586-588)Gtg>Atg	p.V196M	SEPHS1_ENST00000545675.1_Missense_Mutation_p.V196M|SEPHS1_ENST00000378614.4_Missense_Mutation_p.V196M|SEPHS1_ENST00000537130.1_Missense_Mutation_p.V129M	NM_001195602.1|NM_012247.4	NP_001182531.1|NP_036379.2	P49903	SPS1_HUMAN	selenophosphate synthetase 1	196					cellular protein modification process (GO:0006464)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|selenide, water dikinase activity (GO:0004756)			cervix(1)|endometrium(3)|large_intestine(3)|lung(6)|prostate(1)|skin(1)|stomach(1)	16						AGCACCAGCACGTCCCCTGGC	0.517																																						ENST00000327347.5																			0				cervix(1)|endometrium(3)|large_intestine(3)|lung(6)|prostate(1)|skin(1)|stomach(1)	16						c.(586-588)Gtg>Atg		selenophosphate synthetase 1							59	46	51					10																	13371763		2203	4300	6503	SO:0001583	missense	22929				protein modification process		ATP binding|GTP binding|selenide, water dikinase activity	g.chr10:13371763C>T	BC000941	CCDS7098.1, CCDS55702.1, CCDS55703.1	10p14	2006-10-06			ENSG00000086475	ENSG00000086475			19685	protein-coding gene	gene with protein product		600902				7665581	Standard	NM_012247		Approved	SPS, SPS1	uc001imk.3	P49903	OTTHUMG00000017696	ENST00000327347.5:c.586G>A	10.37:g.13371763C>T	ENSP00000367893:p.Val196Met					SEPHS1_ENST00000537130.1_Missense_Mutation_p.V129M|SEPHS1_ENST00000545675.1_Missense_Mutation_p.V196M|SEPHS1_ENST00000378614.4_Missense_Mutation_p.V196M	p.V196M	NM_001195602.1|NM_012247.4	NP_001182531.1|NP_036379.2	P49903	SPS1_HUMAN			6	961	-			196					B4DWK0|D3DRS9|D6PSQ9|Q5T5U8|Q5T5U9|Q9BVT4	Missense_Mutation	SNP	ENST00000327347.5	37	c.586G>A	CCDS7098.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.011552	0.75046	.	.	ENSG00000086475	ENST00000327347;ENST00000319684;ENST00000378614;ENST00000545675;ENST00000537130	T;T;T;T	0.48201	1.89;0.82;1.89;1.89	5.37	5.37	0.77165	AIR synthase-related protein, C-terminal (2);	0.055633	0.64402	D	0.000001	T	0.66107	0.2756	M	0.90542	3.125	0.80722	D	1	P;P;P;D;P;P	0.56746	0.949;0.803;0.939;0.977;0.939;0.939	P;B;P;P;P;P	0.48627	0.584;0.087;0.584;0.572;0.584;0.584	T	0.76094	-0.3085	10	0.72032	D	0.01	-19.0567	19.1025	0.93279	0.0:1.0:0.0:0.0	.	148;196;196;196;196;129	B4DLS1;Q5T5U9;P49903;D6PSQ9;D3DRS9;B4DWK0	.;.;SPS1_HUMAN;.;.;.	M	196;196;196;196;129	ENSP00000367893:V196M;ENSP00000367877:V196M;ENSP00000441119:V196M;ENSP00000442768:V129M	ENSP00000367887:V196M	V	-	1	0	SEPHS1	13411769	1.000000	0.71417	0.920000	0.36463	0.452000	0.32318	7.805000	0.86005	2.507000	0.84556	0.561000	0.74099	GTG		0.517	SEPHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046856.1	NM_012247		8	15	0	0	0	1	0	8	15					T	13371763	C	T	13371763	3	4	306	1	0	0	0	0	1	0	0	0	14054	536	19	1	608	1	SEPHS1	10	13371763	Missense_Mutation	SNP	C	TCGA-KK-A59X-01A-11D-A29Q-08		13371763	122162984	27	15686											
LRDD	55367	broad.mit.edu	37	chr11	803339	803339	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgggggcagcgtctgcaggcGgttgtgtgtcactgtgagga	5	10	19	7	2	2	1	1	1	1	0	2	2	2	2	0	5	2	3	0	5	0	1	rs200829634		TCGA-KK-A59X-01A-11D-A29Q-08	TCGA-KK-A59X-11A-21D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f555699-002c-43d7-b5ef-22deebbae2a5	2e17d22b-df41-4ea2-afd3-edce529c9a20	g.chr11:803339G>A	ENST00000347755.5	-	3	685	c.544C>T	c.(544-546)Cgc>Tgc	p.R182C	PIDD_ENST00000411829.2_Missense_Mutation_p.R182C|PIDD_ENST00000534649.1_5'Flank	NM_145886.3|NM_145887.3	NP_665893.2|NP_665894.2																					GTCTGCAGGCGGTTGTGTGTC	0.637																																						ENST00000347755.5																			0											c.(544-546)Cgc>Tgc		p53-induced death domain protein							56	68	64					11																	803339		2203	4299	6502	SO:0001583	missense	55367				apoptosis|signal transduction	cytoplasm|nucleus	death receptor binding	g.chr11:803339G>A																												ENST00000347755.5:c.544C>T	11.37:g.803339G>A	ENSP00000337797:p.Arg182Cys					PIDD_ENST00000411829.2_Missense_Mutation_p.R182C	p.R182C	NM_145886.3|NM_145887.3	NP_665893.2|NP_665894.2	Q9HB75	PIDD_HUMAN			3	685	-			182						Missense_Mutation	SNP	ENST00000347755.5	37	c.544C>T	CCDS7716.1	.	.	.	.	.	.	.	.	.	.	G	12.52	1.963462	0.34659	.	.	ENSG00000177595	ENST00000411829;ENST00000347755	T;T	0.60040	0.22;0.22	4.42	-1.02	0.10135	.	1.678830	0.02892	N	0.134322	T	0.54743	0.1877	L	0.58669	1.825	0.42803	D	0.993936	B;B;B	0.22414	0.069;0.007;0.056	B;B;B	0.09377	0.004;0.002;0.002	T	0.44772	-0.9306	10	0.59425	D	0.04	.	9.9023	0.41355	0.3578:0.0:0.6422:0.0	.	182;36;182	Q9HB75;Q9HB75-3;Q9HB75-2	PIDD_HUMAN;.;.	C	182	ENSP00000416801:R182C;ENSP00000337797:R182C	ENSP00000337797:R182C	R	-	1	0	PIDD	793339	0.054000	0.20591	0.552000	0.28243	0.869000	0.49853	0.037000	0.13840	-0.091000	0.12440	0.455000	0.32223	CGC		0.637	PIDD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257103.1			50	69	0	0	0	1	0	50	69					A	803339	G	A	803339	3	1	306	1	0	0	0	0	1	0	0	0	8936	1116	39	2	2244	2	LRDD	11	803339	Missense_Mutation	SNP	G	TCGA-KK-A59X-01A-11D-A29Q-08		803339	134203177	28	15687											
C1S	716	broad.mit.edu	37	chr12	7172584	7172584	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agcagctgactcagcgggaaActgccttgacagtttagttg	10	10	12	9	1	1	2	1	2	0	0	1	3	1	3	1	1	5	4	1	1	2	4			TCGA-KK-A59X-01A-11D-A29Q-08	TCGA-KK-A59X-11A-21D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f555699-002c-43d7-b5ef-22deebbae2a5	2e17d22b-df41-4ea2-afd3-edce529c9a20	g.chr12:7172584A>G	ENST00000406697.1	+	9	1326	c.698A>G	c.(697-699)aAc>aGc	p.N233S	C1S_ENST00000328916.3_Missense_Mutation_p.N233S|C1S_ENST00000360817.5_Missense_Mutation_p.N233S|C1S_ENST00000402681.3_Missense_Mutation_p.N66S			P09871	C1S_HUMAN	complement component 1, s subcomponent	233	CUB 2. {ECO:0000255|PROSITE- ProRule:PRU00059}.				complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|serine-type endopeptidase activity (GO:0004252)			breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(4)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33					Abciximab(DB00054)|Adalimumab(DB00051)|Basiliximab(DB00074)|Cetuximab(DB00002)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Muromonab(DB00075)|Rituximab(DB00073)|Trastuzumab(DB00072)	TCAGCGGGAAACTGCCTTGAC	0.453																																					GBM(156;750 1943 12971 24779 31015)	ENST00000406697.1																			0				breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(4)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33						c.(697-699)aAc>aGc		complement component 1, s subcomponent	Abciximab(DB00054)|Adalimumab(DB00051)|Basiliximab(DB00074)|Cetuximab(DB00002)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Rituximab(DB00073)|Trastuzumab(DB00072)						116	116	116					12																	7172584		2203	4300	6503	SO:0001583	missense	716				complement activation, classical pathway|innate immune response|proteolysis	extracellular region	calcium ion binding|serine-type endopeptidase activity	g.chr12:7172584A>G		CCDS31735.1	12p13	2014-09-17			ENSG00000182326	ENSG00000182326	3.4.21.42	"Complement system"	1247	protein-coding gene	gene with protein product		120580					Standard	NM_201442		Approved		uc001qsl.3	P09871	OTTHUMG00000150305	ENST00000406697.1:c.698A>G	12.37:g.7172584A>G	ENSP00000385035:p.Asn233Ser					C1S_ENST00000402681.3_Missense_Mutation_p.N66S|C1S_ENST00000360817.5_Missense_Mutation_p.N233S|C1S_ENST00000328916.3_Missense_Mutation_p.N233S	p.N233S			P09871	C1S_HUMAN			9	1326	+			233			CUB 2.		D3DUT4|Q9UCU7|Q9UCU8|Q9UCU9|Q9UCV0|Q9UCV1|Q9UCV2|Q9UCV3|Q9UCV4|Q9UCV5|Q9UM14	Missense_Mutation	SNP	ENST00000406697.1	37	c.698A>G	CCDS31735.1	.	.	.	.	.	.	.	.	.	.	A	7.706	0.694080	0.15039	.	.	ENSG00000182326	ENST00000406697;ENST00000328916;ENST00000360817;ENST00000402681;ENST00000542978	T;T;T;T;T	0.20200	2.09;2.09;2.09;2.09;2.09	6.09	2.39	0.29439	CUB (5);	0.681931	0.12792	N	0.438755	T	0.13114	0.0318	N	0.25201	0.72	0.23747	N	0.996955	B	0.13145	0.007	B	0.19666	0.026	T	0.30060	-0.9991	10	0.38643	T	0.18	.	5.4474	0.16544	0.5494:0.2506:0.2:0.0	.	233	P09871	C1S_HUMAN	S	233;233;233;66;66	ENSP00000385035:N233S;ENSP00000328173:N233S;ENSP00000354057:N233S;ENSP00000384171:N66S;ENSP00000442298:N66S	ENSP00000328173:N233S	N	+	2	0	C1S	7042845	0.506000	0.26139	0.952000	0.39060	0.608000	0.37181	0.263000	0.18478	0.163000	0.19507	0.533000	0.62120	AAC		0.453	C1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317481.1	NM_001734		45	88	0	0	0	1	0	45	88					G	7172584	A	G	7172584	3	3	306	1	0	0	0	0	1	0	0	0	1974	43	2	4	716	4	C1S	12	7172584	Missense_Mutation	SNP	A	TCGA-KK-A59X-01A-11D-A29Q-08		7172584	126679311	29	15688											
TMEM119	338773	broad.mit.edu	37	chr12	108985717	108985717	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cggggacctcactgaaggccCgggggcccccggcccggtca	5	3	16	17	4	2	1	2	1	0	0	2	2	2	2	5	7	0	0	5	7	1	0			TCGA-KK-A59X-01A-11D-A29Q-08	TCGA-KK-A59X-11A-21D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f555699-002c-43d7-b5ef-22deebbae2a5	2e17d22b-df41-4ea2-afd3-edce529c9a20	g.chr12:108985717C>T	ENST00000392806.3	-	2	611	c.443G>A	c.(442-444)cGg>cAg	p.R148Q		NM_181724.2	NP_859075.2	Q4V9L6	TM119_HUMAN	transmembrane protein 119	148					osteoblast differentiation (GO:0001649)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				large_intestine(2)|lung(3)|ovary(1)|skin(1)	7						ACTGAAggcccgggggccccc	0.677																																						ENST00000392806.3																			0				large_intestine(2)|lung(3)|ovary(1)|skin(1)	7						c.(442-444)cGg>cAg		transmembrane protein 119							11	16	14					12																	108985717		2168	4267	6435	SO:0001583	missense	338773					integral to membrane		g.chr12:108985717C>T	AK075501	CCDS9119.1	12q23.3	2014-02-12				ENSG00000183160			27884	protein-coding gene	gene with protein product						12975309	Standard	NM_181724		Approved		uc001tng.3	Q4V9L6		ENST00000392806.3:c.443G>A	12.37:g.108985717C>T	ENSP00000376553:p.Arg148Gln						p.R148Q	NM_181724.2	NP_859075.2	Q4V9L6	TM119_HUMAN			2	611	-			148					Q6UXE5|Q8N2F5	Missense_Mutation	SNP	ENST00000392806.3	37	c.443G>A	CCDS9119.1	.	.	.	.	.	.	.	.	.	.	C	13.84	2.356483	0.41700	.	.	ENSG00000183160	ENST00000392806;ENST00000433191	T	0.54479	0.57	4.53	-1.15	0.09709	.	0.679913	0.13954	N	0.351298	T	0.43986	0.1272	M	0.61703	1.905	0.09310	N	1	B	0.32203	0.36	B	0.22386	0.039	T	0.34279	-0.9835	10	0.59425	D	0.04	-2.879	10.9125	0.47116	0.0:0.4538:0.0:0.5462	.	148	Q4V9L6	TM119_HUMAN	Q	148;82	ENSP00000376553:R148Q	ENSP00000376553:R148Q	R	-	2	0	TMEM119	107509846	0.000000	0.05858	0.052000	0.19188	0.969000	0.65631	0.016000	0.13377	-0.178000	0.10672	-0.501000	0.04562	CGG		0.677	TMEM119-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403900.1	NM_181724		25	35	0	0	0	1	0	25	35					T	108985717	C	T	108985717	3	4	306	1	0	0	0	0	1	0	0	0	16029	652	23	2	412	2	TMEM119	12	108985717	Missense_Mutation	SNP	C	TCGA-KK-A59X-01A-11D-A29Q-08	101813133	108985717	24866178	30	15689											
WSB2	55884	broad.mit.edu	37	chr12	118472080	118472080	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cttggtaagttgttaggaaaCttcgaagggctttccggcat	9	13	12	7	2	0	0	0	0	0	0	2	2	1	1	1	4	1	5	1	4	4	6			TCGA-KK-A59X-01A-11D-A29Q-08	TCGA-KK-A59X-11A-21D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f555699-002c-43d7-b5ef-22deebbae2a5	2e17d22b-df41-4ea2-afd3-edce529c9a20	g.chr12:118472080C>G	ENST00000315436.3	-	9	1277	c.1136G>C	c.(1135-1137)aGt>aCt	p.S379T	WSB2_ENST00000535496.1_Missense_Mutation_p.S381T|WSB2_ENST00000536738.1_5'Flank|WSB2_ENST00000441406.2_Missense_Mutation_p.S396T|WSB2_ENST00000544233.1_Missense_Mutation_p.S169T|WSB2_ENST00000542304.1_Missense_Mutation_p.S154T	NM_001278557.1|NM_018639.3	NP_001265486.1|NP_061109.1	Q9NYS7	WSB2_HUMAN	WD repeat and SOCS box containing 2	379	SOCS box. {ECO:0000255|PROSITE- ProRule:PRU00194}.				intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)					breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	17	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TGTTAGGAAACTTCGAAGGGC	0.458																																						ENST00000315436.3																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	17						c.(1135-1137)aGt>aCt		WD repeat and SOCS box containing 2							222	195	204					12																	118472080		2203	4300	6503	SO:0001583	missense	55884				intracellular signal transduction			g.chr12:118472080C>G	AF038187	CCDS9186.1, CCDS61251.1, CCDS61252.1	12q24.23	2013-01-09	2011-01-25		ENSG00000176871	ENSG00000176871		"WD repeat domain containing"	19222	protein-coding gene	gene with protein product			"WD repeat and SOCS box-containing 2"			12076535	Standard	NM_018639		Approved	SBA2, MGC10210	uc001twr.2	Q9NYS7	OTTHUMG00000168885	ENST00000315436.3:c.1136G>C	12.37:g.118472080C>G	ENSP00000319474:p.Ser379Thr					WSB2_ENST00000544233.1_Missense_Mutation_p.S169T|WSB2_ENST00000542304.1_Missense_Mutation_p.S154T|WSB2_ENST00000441406.2_Missense_Mutation_p.S396T|WSB2_ENST00000535496.1_Missense_Mutation_p.S381T	p.S379T	NM_001278557.1|NM_018639.3	NP_001265486.1|NP_061109.1	Q9NYS7	WSB2_HUMAN			9	1277	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		379			SOCS box.		B4DIE6|B4DPV6|Q9NRX9	Missense_Mutation	SNP	ENST00000315436.3	37	c.1136G>C	CCDS9186.1	.	.	.	.	.	.	.	.	.	.	C	9.791	1.177817	0.21787	.	.	ENSG00000176871	ENST00000315436;ENST00000542304;ENST00000441406;ENST00000544233;ENST00000535496	T;T;T;T;T	0.47528	0.84;0.84;0.84;0.84;0.84	5.9	5.9	0.94986	SOCS protein, C-terminal (4);	0.216467	0.56097	D	0.000027	T	0.33962	0.0881	N	0.20685	0.6	0.25989	N	0.982271	B	0.13145	0.007	B	0.11329	0.006	T	0.09271	-1.0682	10	0.17369	T	0.5	-9.472	16.4345	0.83871	0.0:0.8687:0.1313:0.0	.	379	Q9NYS7	WSB2_HUMAN	T	379;154;396;169;381	ENSP00000319474:S379T;ENSP00000445941:S154T;ENSP00000409131:S396T;ENSP00000444431:S169T;ENSP00000439450:S381T	ENSP00000319474:S379T	S	-	2	0	WSB2	116956463	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	2.336000	0.43938	2.788000	0.95919	0.650000	0.86243	AGT		0.458	WSB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401515.1	NM_018639		91	165	0	0	0	1	0	91	165					G	118472080	C	G	118472080	3	3	306	1	0	0	0	0	1	0	0	0	17402	565	20	5	82	5	WSB2	12	118472080	Missense_Mutation	SNP	C	TCGA-KK-A59X-01A-11D-A29Q-08	9486363	118472080	15379815	31	15690											
TRPC4	7223	broad.mit.edu	37	chr13	38237623	38237623	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccctttcgtttcttcataatAgaagtacaattgatttaggc	11	16	6	8	1	2	2	1	1	1	1	3	2	2	2	1	1	1	2	1	1	6	9			TCGA-KK-A59X-01A-11D-A29Q-08	TCGA-KK-A59X-11A-21D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f555699-002c-43d7-b5ef-22deebbae2a5	2e17d22b-df41-4ea2-afd3-edce529c9a20	g.chr13:38237623A>G	ENST00000379705.3	-	6	2475	c.1618T>C	c.(1618-1620)Tat>Cat	p.Y540H	TRPC4_ENST00000426868.2_Intron|TRPC4_ENST00000358477.2_Missense_Mutation_p.Y540H|TRPC4_ENST00000379681.3_Missense_Mutation_p.Y540H|TRPC4_ENST00000494529.1_5'UTR|TRPC4_ENST00000379679.1_Missense_Mutation_p.Y367H|TRPC4_ENST00000379673.2_Missense_Mutation_p.Y540H|TRPC4_ENST00000447043.1_Missense_Mutation_p.Y540H|TRPC4_ENST00000338947.5_Missense_Mutation_p.Y367H|TRPC4_ENST00000355779.2_Missense_Mutation_p.Y540H			Q9UBN4	TRPC4_HUMAN	transient receptor potential cation channel, subfamily C, member 4	540					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|gamma-aminobutyric acid secretion (GO:0014051)|ion transmembrane transport (GO:0034220)|oligodendrocyte differentiation (GO:0048709)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|calcium channel complex (GO:0034704)|caveola (GO:0005901)|cell surface (GO:0009986)|cortical cytoskeleton (GO:0030863)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|inositol 1,4,5 trisphosphate binding (GO:0070679)|store-operated calcium channel activity (GO:0015279)			NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	83				all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)		TCTTCATAATAGAAGTACAAT	0.348																																						ENST00000379705.3																			0				NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	83						c.(1618-1620)Tat>Cat		transient receptor potential cation channel, subfamily C, member 4							77	74	75					13																	38237623		2203	4300	6503	SO:0001583	missense	7223				axon guidance|calcium ion import	basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton	beta-catenin binding|cadherin binding|store-operated calcium channel activity	g.chr13:38237623A>G	U40983	CCDS9365.1, CCDS45035.1, CCDS45036.1, CCDS45038.1, CCDS45039.1	13q13.3	2013-01-10			ENSG00000133107	ENSG00000133107		"Voltage-gated ion channels / Transient receptor potential cation channels", "Ankyrin repeat domain containing"	12336	protein-coding gene	gene with protein product		603651				8646775, 16382100	Standard	NM_016179		Approved	HTRP4, TRP4	uc010abx.3	Q9UBN4	OTTHUMG00000016752	ENST00000379705.3:c.1618T>C	13.37:g.38237623A>G	ENSP00000369027:p.Tyr540His					TRPC4_ENST00000355779.2_Missense_Mutation_p.Y540H|TRPC4_ENST00000379681.3_Missense_Mutation_p.Y540H|TRPC4_ENST00000494529.1_5'UTR|TRPC4_ENST00000338947.5_Missense_Mutation_p.Y367H|TRPC4_ENST00000379673.2_Missense_Mutation_p.Y540H|TRPC4_ENST00000358477.2_Missense_Mutation_p.Y540H|TRPC4_ENST00000426868.2_Intron|TRPC4_ENST00000447043.1_Missense_Mutation_p.Y540H|TRPC4_ENST00000379679.1_Missense_Mutation_p.Y367H	p.Y540H			Q9UBN4	TRPC4_HUMAN		all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)	6	2475	-			540					B1ALE0|B1ALE1|B1ALE2|Q15721|Q3SWS6|Q96P03|Q96P04|Q96P05|Q9UIB0|Q9UIB1|Q9UIB2	Missense_Mutation	SNP	ENST00000379705.3	37	c.1618T>C	CCDS9365.1	.	.	.	.	.	.	.	.	.	.	A	24.8	4.574809	0.86542	.	.	ENSG00000133107	ENST00000379705;ENST00000379681;ENST00000338947;ENST00000379679;ENST00000355779;ENST00000358477;ENST00000379673;ENST00000447043	D;D;D;D;D;D;D;D	0.98531	-4.98;-4.98;-4.98;-4.98;-4.98;-4.98;-4.98;-4.98	6.08	6.08	0.98989	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.98764	0.9584	M	0.71920	2.185	0.80722	D	1	D;D;D;D;D;D	0.76494	0.991;0.991;0.999;0.997;0.984;0.958	P;D;D;D;P;D	0.83275	0.847;0.945;0.996;0.974;0.891;0.936	D	0.99872	1.1098	10	0.72032	D	0.01	-21.0646	16.6438	0.85155	1.0:0.0:0.0:0.0	.	540;540;540;367;540;540	Q9UBN4-3;Q9UBN4-4;Q9UBN4-5;Q9UBN4-6;Q9UBN4-2;Q9UBN4	.;.;.;.;.;TRPC4_HUMAN	H	540;540;367;367;540;540;540;540	ENSP00000369027:Y540H;ENSP00000369003:Y540H;ENSP00000342580:Y367H;ENSP00000369001:Y367H;ENSP00000348025:Y540H;ENSP00000351264:Y540H;ENSP00000368995:Y540H;ENSP00000414316:Y540H	ENSP00000342580:Y367H	Y	-	1	0	TRPC4	37135623	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	9.339000	0.96797	2.333000	0.79357	0.533000	0.62120	TAT		0.348	TRPC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044574.2	NM_003306		3	74	0	0	0	1	0	3	74					G	38237623	A	G	38237623	3	3	306	1	0	0	0	0	1	0	0	0	16577	420	15	4	1354	4	TRPC4	13	38237623	Missense_Mutation	SNP	A	TCGA-KK-A59X-01A-11D-A29Q-08		38237623	76932255	32	15691											
NALCN	259232	broad.mit.edu	37	chr13	101797243	101797243	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccgcatttgcttcactttgcTttaactaaagaaaaattgga	13	14	6	8	1	1	1	1	0	0	1	1	2	1	2	1	1	3	3	1	1	5	7			TCGA-KK-A59X-01A-11D-A29Q-08	TCGA-KK-A59X-11A-21D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f555699-002c-43d7-b5ef-22deebbae2a5	2e17d22b-df41-4ea2-afd3-edce529c9a20	g.chr13:101797243T>G	ENST00000251127.6	-	16	1925	c.1844A>C	c.(1843-1845)aAg>aCg	p.K615T		NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	615					calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|cell death (GO:0008219)|ion transmembrane transport (GO:0034220)|membrane depolarization during action potential (GO:0086010)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium channel activity (GO:0005272)|voltage-gated calcium channel activity (GO:0005245)			NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					TTCACTTTGCTTTAACTAAAG	0.328																																						ENST00000251127.6																			0				NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177						c.(1843-1845)aAg>aCg		sodium leak channel, non-selective							118	131	126					13																	101797243		2203	4300	6503	SO:0001583	missense	259232					integral to membrane	sodium channel activity|voltage-gated ion channel activity	g.chr13:101797243T>G	AY141972	CCDS9498.1	13q32.3	2012-02-21	2007-04-26	2007-04-26	ENSG00000102452	ENSG00000102452		"Ion channels / Sodium leak channels, non-selective"	19082	protein-coding gene	gene with protein product		611549	"voltage gated channel like 1"	VGCNL1		17448995	Standard	XM_006719943		Approved	bA430M15.1, CanIon	uc001vox.1	Q8IZF0	OTTHUMG00000017295	ENST00000251127.6:c.1844A>C	13.37:g.101797243T>G	ENSP00000251127:p.Lys615Thr						p.K615T	NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN			16	1925	-	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		615					Q6P2S6|Q6ZMI7|Q8IZZ1|Q8TAH1	Missense_Mutation	SNP	ENST00000251127.6	37	c.1844A>C	CCDS9498.1	.	.	.	.	.	.	.	.	.	.	T	26.0	4.699849	0.88924	.	.	ENSG00000102452	ENST00000251127	D	0.98313	-4.86	5.86	5.86	0.93980	.	0.000000	0.85682	D	0.000000	D	0.98305	0.9438	L	0.46819	1.47	0.80722	D	1	D	0.76494	0.999	D	0.73708	0.981	D	0.99226	1.0880	10	0.48119	T	0.1	.	16.2453	0.82441	0.0:0.0:0.0:1.0	.	615	Q8IZF0	NALCN_HUMAN	T	615	ENSP00000251127:K615T	ENSP00000251127:K615T	K	-	2	0	NALCN	100595244	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.606000	0.82863	2.241000	0.73720	0.533000	0.62120	AAG		0.328	NALCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045663.2	NM_052867		8	250	0	0	0	1	0	8	250					G	101797243	T	G	101797243	3	3	306	1	0	0	0	0	1	0	0	0	10148	1609	56	5	3488	5	NALCN	13	101797243	Missense_Mutation	SNP	T	TCGA-KK-A59X-01A-11D-A29Q-08	63559620	101797243	13372635	33	15692											
MYO16	23026	broad.mit.edu	37	chr13	109793290	109793290	+	Frame_Shift_Del	DEL	C	C	-																															cgacggcgacaggcccgcgtCccccggcctggcgctgttca																										TCGA-KK-A59X-01A-11D-A29Q-08	TCGA-KK-A59X-11A-21D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f555699-002c-43d7-b5ef-22deebbae2a5	2e17d22b-df41-4ea2-afd3-edce529c9a20	g.chr13:109793290delC	ENST00000357550.2	+	31	4705	c.4664delC	c.(4663-4665)tccfs	p.S1555fs	MYO16_ENST00000356711.2_Frame_Shift_Del_p.S1555fs	NM_001198950.1	NP_001185879.1			myosin XVI											NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			AGGCCCGCGTCCCCCGGCCTG	0.776																																						ENST00000356711.2																			0				NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121						c.(4663-4665)tcfs		myosin XVI							9	13	12					13																	109793290		2147	4228	6375	SO:0001589	frameshift_variant	23026				cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle	myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane	actin filament binding|ATP binding|motor activity	g.chr13:109793290delC		CCDS32008.1, CCDS73598.1	13q33.3	2014-06-12			ENSG00000041515	ENSG00000041515		"Myosins / Myosin superfamily : Class XVI", "Ankyrin repeat domain containing"	29822	protein-coding gene	gene with protein product	"neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 3", "protein phosphatase 1, regulatory subunit 107"	615479				11588169, 17029291, 21946561	Standard	NM_001198950		Approved	MYR8, KIAA0865, Myo16b, NYAP3, PPP1R107	uc001vqt.1	Q9Y6X6	OTTHUMG00000017333	ENST00000357550.2:c.4664delC	13.37:g.109793290delC	ENSP00000350160:p.Ser1555fs					MYO16_ENST00000357550.2_Frame_Shift_Del_p.S1555fs	p.S1555fs	NM_015011.1	NP_055826.1	Q9Y6X6	MYO16_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)		32	4790	+	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		1555			Pro-rich.			Frame_Shift_Del	DEL	ENST00000357550.2	37	c.4664delC	CCDS32008.1																																																																																				0.776	MYO16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045746.1	NM_015011		2	4						2	4	---	---	---	---	-	109793290	C	-	109793290	7	5	306	1	0	1	0	1	0	0	0	0	10064	855	30	0	4786	0	MYO16	13	109793290	Frame_Shift_Del	DEL	C	TCGA-KK-A59X-01A-11D-A29Q-08	7996047	109793290	5376588	34	15693											
EDDM3A	10876	broad.mit.edu	37	chr14	21215868	21215868	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cattacttaagtccaagtcgAgaattcaaagagtacaaatg	17	10	7	7	1	1	2	1	0	0	2	3	3	2	2	1	0	2	1	1	0	7	4			TCGA-KK-A59X-01A-11D-A29Q-08	TCGA-KK-A59X-11A-21D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f555699-002c-43d7-b5ef-22deebbae2a5	2e17d22b-df41-4ea2-afd3-edce529c9a20	g.chr14:21215868A>G	ENST00000326842.2	+	2	256	c.129A>G	c.(127-129)cgA>cgG	p.R43R		NM_006683.4	NP_006674.2	Q14507	EP3A_HUMAN	epididymal protein 3A	43					sperm displacement (GO:0007321)	extracellular space (GO:0005615)				breast(2)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	6						GTCCAAGTCGAGAATTCAAAG	0.378																																						ENST00000326842.2																			0				breast(2)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	6						c.(127-129)cgA>cgG		epididymal protein 3A							100	100	100					14																	21215868		2203	4300	6503	SO:0001819	synonymous_variant	10876				sperm displacement	extracellular space		g.chr14:21215868A>G	X76383	CCDS9556.1	14q11.1	2010-03-19	2010-01-27	2010-01-27	ENSG00000181562	ENSG00000181562			16978	protein-coding gene	gene with protein product		611580	"family with sequence similarity 12, member A"	FAM12A		7514008	Standard	NM_006683		Approved	HE3-ALPHA	uc001vyc.3	Q14507	OTTHUMG00000029581	ENST00000326842.2:c.129A>G	14.37:g.21215868A>G							p.R43R	NM_006683.4	NP_006674.2	Q14507	EP3A_HUMAN			2	256	+			43					Q4KN33	Silent	SNP	ENST00000326842.2	37	c.129A>G	CCDS9556.1																																																																																				0.378	EDDM3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073742.3			44	87	0	0	0	1	0	44	87					G	21215868	A	G	21215868	2	3	306	1	0	0	0	0	0	0	0	1	4909	291	11	4		4	EDDM3A	14	21215868	Silent	SNP	A	TCGA-KK-A59X-01A-11D-A29Q-08		21215868	86133672	35	15694											
CCPG1	9236	broad.mit.edu	37	chr15	55651764	55651764	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catatggaggggaaaaagtgTgaccaaagaagtgtctatat	16	9	12	4	0	1	2	0	1	1	1	1	4	1	4	1	3	0	0	1	3	7	3			TCGA-KK-A59X-01A-11D-A29Q-08	TCGA-KK-A59X-11A-21D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f555699-002c-43d7-b5ef-22deebbae2a5	2e17d22b-df41-4ea2-afd3-edce529c9a20	g.chr15:55651764T>C	ENST00000310958.6	-	8	2505	c.2207A>G	c.(2206-2208)cAc>cGc	p.H736R	DYX1C1-CCPG1_ENST00000565113.1_RNA|CCPG1_ENST00000442196.3_Missense_Mutation_p.H736R|CCPG1_ENST00000569205.1_Missense_Mutation_p.H736R|CCPG1_ENST00000425574.3_Missense_Mutation_p.H353R	NM_001204450.1|NM_001204451.1|NM_004748.4|NM_020739.3	NP_001191379.1|NP_001191380.1|NP_004739.3|NP_065790.2	Q9ULG6	CCPG1_HUMAN	cell cycle progression 1	736					cell cycle (GO:0007049)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of Rho guanyl-nucleotide exchange factor activity (GO:2001106)	integral component of membrane (GO:0016021)				autonomic_ganglia(1)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|stomach(3)	30				all cancers(107;0.0354)		GGAAAAAGTGTGACCAAAGAA	0.328																																						ENST00000310958.6																			0				autonomic_ganglia(1)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|stomach(3)	30						c.(2206-2208)cAc>cGc		cell cycle progression 1							64	64	64					15																	55651764		1820	4062	5882	SO:0001583	missense	9236				cell cycle	integral to membrane		g.chr15:55651764T>C	AF212228	CCDS42039.1, CCDS55966.1, CCDS55967.1	15q21.1	2011-04-20				ENSG00000260916			24227	protein-coding gene	gene with protein product		611326				9383053, 10574462	Standard	NM_004748		Approved	KIAA1254, CPR8	uc010bfk.2	Q9ULG6		ENST00000310958.6:c.2207A>G	15.37:g.55651764T>C	ENSP00000311656:p.His736Arg					CCPG1_ENST00000442196.3_Missense_Mutation_p.H736R|CCPG1_ENST00000569205.1_Missense_Mutation_p.H736R|CCPG1_ENST00000425574.3_Missense_Mutation_p.H353R|DYX1C1-CCPG1_ENST00000565113.1_RNA	p.H736R	NM_001204450.1|NM_001204451.1|NM_004748.4|NM_020739.3	NP_001191379.1|NP_001191380.1|NP_004739.3|NP_065790.2	Q9ULG6	CCPG1_HUMAN		all cancers(107;0.0354)	8	2505	-			736					A0PJH3|A8K9T0|O14712|Q05DG4|Q5U5S7|Q8IYV8|Q9BY53|Q9HA17	Missense_Mutation	SNP	ENST00000310958.6	37	c.2207A>G	CCDS42039.1	.	.	.	.	.	.	.	.	.	.	T	11.45	1.641382	0.29157	.	.	ENSG00000256061	ENST00000310958;ENST00000442196;ENST00000425574	T;T;T	0.29655	3.89;3.89;1.56	5.83	3.42	0.39159	.	0.459942	0.27206	N	0.020427	T	0.22666	0.0547	L	0.36672	1.1	0.09310	N	1	P;B;P;P	0.41265	0.744;0.184;0.744;0.744	B;B;B;B	0.38327	0.271;0.037;0.271;0.271	T	0.07809	-1.0753	10	0.54805	T	0.06	.	8.4515	0.32873	0.1304:0.0:0.1368:0.7328	.	736;353;736;592	A8K9T0;Q9ULG6-3;Q9ULG6;Q9ULG6-2	.;.;CCPG1_HUMAN;.	R	736;736;353	ENSP00000311656:H736R;ENSP00000403400:H736R;ENSP00000415128:H353R	ENSP00000311656:H736R	H	-	2	0	DYX1C1	53439056	1.000000	0.71417	0.122000	0.21767	0.988000	0.76386	3.360000	0.52299	0.422000	0.26005	0.528000	0.53228	CAC		0.328	CCPG1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000419850.1	NM_004748		23	3	0	0	0	1	0	23	3					C	55651764	T	C	55651764	3	2	306	1	0	0	0	0	1	0	0	0	2938	1696	59	4	70	4	CCPG1	15	55651764	Missense_Mutation	SNP	T	TCGA-KK-A59X-01A-11D-A29Q-08		55651764	46879628	36	15695											
ISLR2	57611	broad.mit.edu	37	chr15	74425259	74425259	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actgcctgccaacgtgacgaCgcttagtctgtccgcgaaca	9	8	10	14	5	1	1	0	1	1	0	2	3	2	1	3	0	4	1	3	0	3	1			TCGA-KK-A59X-01A-11D-A29Q-08	TCGA-KK-A59X-11A-21D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f555699-002c-43d7-b5ef-22deebbae2a5	2e17d22b-df41-4ea2-afd3-edce529c9a20	g.chr15:74425259C>T	ENST00000361742.3	+	4	933	c.164C>T	c.(163-165)aCg>aTg	p.T55M	ISLR2_ENST00000561975.1_Intron|ISLR2_ENST00000565159.1_Missense_Mutation_p.T55M|ISLR2_ENST00000565540.1_Missense_Mutation_p.T55M|ISLR2_ENST00000419208.1_Missense_Mutation_p.T55M|ISLR2_ENST00000445793.1_Missense_Mutation_p.T55M|ISLR2_ENST00000453268.2_Missense_Mutation_p.T55M|ISLR2_ENST00000435464.1_Missense_Mutation_p.T55M	NM_001130136.1|NM_020851.2	NP_001123608.1|NP_065902.1	Q6UXK2	ISLR2_HUMAN	immunoglobulin superfamily containing leucine-rich repeat 2	55					positive regulation of axon extension (GO:0045773)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.T55M(1)		breast(3)|endometrium(6)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	36						AACGTGACGACGCTTAGTCTG	0.637																																						ENST00000361742.3																			1	Substitution - Missense(1)	p.T55M(1)	endometrium(1)	breast(3)|endometrium(6)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	36						c.(163-165)aCg>aTg		immunoglobulin superfamily containing leucine-rich repeat 2							81	68	72					15																	74425259		2198	4297	6495	SO:0001583	missense	57611				positive regulation of axon extension	cell surface|integral to membrane|plasma membrane		g.chr15:74425259C>T		CCDS10259.1	15q24.1	2013-01-11			ENSG00000167178	ENSG00000167178		"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	29286	protein-coding gene	gene with protein product		614179				10819331, 12975309	Standard	NM_001130136		Approved	KIAA1465	uc010bjf.3	Q6UXK2	OTTHUMG00000137624	ENST00000361742.3:c.164C>T	15.37:g.74425259C>T	ENSP00000355402:p.Thr55Met					ISLR2_ENST00000419208.1_Missense_Mutation_p.T55M|ISLR2_ENST00000435464.1_Missense_Mutation_p.T55M|ISLR2_ENST00000565540.1_Missense_Mutation_p.T55M|ISLR2_ENST00000565159.1_Missense_Mutation_p.T55M|ISLR2_ENST00000561975.1_Intron|ISLR2_ENST00000453268.2_Missense_Mutation_p.T55M|ISLR2_ENST00000445793.1_Missense_Mutation_p.T55M	p.T55M	NM_001130136.1|NM_020851.2	NP_001123608.1|NP_065902.1	Q6UXK2	ISLR2_HUMAN			4	933	+			55					A8K352|Q9P263	Missense_Mutation	SNP	ENST00000361742.3	37	c.164C>T	CCDS10259.1	.	.	.	.	.	.	.	.	.	.	C	16.52	3.146357	0.57044	.	.	ENSG00000167178	ENST00000445793;ENST00000361742;ENST00000435464;ENST00000453268;ENST00000395121;ENST00000419208	T;T;T;T;T	0.42900	0.96;0.96;0.96;0.96;0.96	4.66	4.66	0.58398	Leucine-rich repeat-containing N-terminal (1);	0.063133	0.64402	D	0.000008	T	0.55433	0.1920	L	0.48218	1.51	0.58432	D	0.999999	D	0.89917	1.0	D	0.85130	0.997	T	0.57081	-0.7872	10	0.62326	D	0.03	.	11.5872	0.50925	0.0:0.9049:0.0:0.0951	.	55	Q6UXK2	ISLR2_HUMAN	M	55	ENSP00000403244:T55M;ENSP00000355402:T55M;ENSP00000411443:T55M;ENSP00000411834:T55M;ENSP00000408872:T55M	ENSP00000355402:T55M	T	+	2	0	ISLR2	72212312	1.000000	0.71417	1.000000	0.80357	0.487000	0.33371	5.950000	0.70265	2.151000	0.67156	0.407000	0.27541	ACG		0.637	ISLR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269046.1	NM_020851		70	80	0	0	0	1	0	70	80					T	74425259	C	T	74425259	3	4	306	1	0	0	0	0	1	0	0	0	7859	536	19	1	166	1	ISLR2	15	74425259	Missense_Mutation	SNP	C	TCGA-KK-A59X-01A-11D-A29Q-08	18773495	74425259	28106133	37	15696											
GOLGA6D	653643	broad.mit.edu	37	chr15	75580623	75580623	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtccaaggatctggctggccGcctgcaatactccttacagc	8	9	10	14	1	1	0	0	0	1	0	3	1	3	1	4	3	4	2	4	3	4	2	rs547241153		TCGA-KK-A59X-01A-11D-A29Q-08	TCGA-KK-A59X-11A-21D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f555699-002c-43d7-b5ef-22deebbae2a5	2e17d22b-df41-4ea2-afd3-edce529c9a20	g.chr15:75580623G>A	ENST00000434739.3	+	7	523	c.482G>A	c.(481-483)cGc>cAc	p.R161H		NM_001145224.1	NP_001138696.1	P0CG33	GOG6D_HUMAN	golgin A6 family, member D	161						Golgi apparatus (GO:0005794)				kidney(1)|lung(1)	2						CTGGCTGGCCGCCTGCAATAC	0.527													N|||	1	0.000199681	0	0	5008	,	,		19218	0.001		0	False		,,,				2504	0					ENST00000434739.3																			0				kidney(1)|lung(1)	2						c.(481-483)cGc>cAc		golgin A6 family, member D																																				SO:0001583	missense	653643							g.chr15:75580623G>A		CCDS45308.1	15q24.2	2013-05-10	2010-02-12	2009-09-04	ENSG00000140478	ENSG00000140478			32204	protein-coding gene	gene with protein product			"golgi autoantigen, golgin subfamily a, 6D"				Standard	NM_001145224		Approved		uc010uma.2	P0CG33	OTTHUMG00000172672	ENST00000434739.3:c.482G>A	15.37:g.75580623G>A	ENSP00000391085:p.Arg161His						p.R161H	NM_001145224.1	NP_001138696.1	P0CG33	GOG6D_HUMAN			7	523	+			161						Missense_Mutation	SNP	ENST00000434739.3	37	c.482G>A	CCDS45308.1	.	.	.	.	.	.	.	.	.	.	-	12.04	1.818991	0.32145	.	.	ENSG00000140478	ENST00000434739	T	0.22134	1.97	1.57	1.57	0.23409	.	.	.	.	.	T	0.41834	0.1176	M	0.78049	2.395	0.40353	D	0.97915	D	0.76494	0.999	D	0.83275	0.996	T	0.35748	-0.9776	9	0.40728	T	0.16	.	9.1585	0.37007	0.0:0.0:1.0:0.0	.	161	P0CG33	GOG6D_HUMAN	H	161	ENSP00000391085:R161H	ENSP00000391085:R161H	R	+	2	0	GOLGA6D	73367676	0.728000	0.28080	0.016000	0.15963	0.149000	0.21700	2.613000	0.46351	1.194000	0.43101	0.186000	0.17326	CGC		0.527	GOLGA6D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419798.1	NM_001145224		49	11	0	0	0	1	0	49	11					A	75580623	G	A	75580623	3	1	306	1	0	0	0	0	1	0	0	0	6560	1087	38	1	508	1	GOLGA6D	15	75580623	Missense_Mutation	SNP	G	TCGA-KK-A59X-01A-11D-A29Q-08	1155364	75580623	26950769	38	15697											
CHRNB4	1143	broad.mit.edu	37	chr15	78921727	78921727	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cgctggtgacgatggagaagGtgaccagcaccatggtgaac	11	6	15	9	2	0	4	0	3	0	1	0	6	0	4	2	4	2	2	2	4	2	0			TCGA-KK-A59X-01A-11D-A29Q-08	TCGA-KK-A59X-11A-21D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f555699-002c-43d7-b5ef-22deebbae2a5	2e17d22b-df41-4ea2-afd3-edce529c9a20	g.chr15:78921727G>A	ENST00000261751.3	-	5	1031	c.920C>T	c.(919-921)aCc>aTc	p.T307I	RP11-335K5.2_ENST00000559120.1_RNA|CHRNB4_ENST00000412074.2_Intron|CHRNB4_ENST00000560511.1_5'Flank	NM_000750.3	NP_000741.1	P30926	ACHB4_HUMAN	cholinergic receptor, nicotinic, beta 4 (neuronal)	307					action potential (GO:0001508)|behavioral response to nicotine (GO:0035095)|cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|locomotory behavior (GO:0007626)|regulation of neurotransmitter secretion (GO:0046928)|regulation of smooth muscle contraction (GO:0006940)|signal transduction (GO:0007165)|smooth muscle contraction (GO:0006939)|synaptic transmission (GO:0007268)|synaptic transmission involved in micturition (GO:0060084)|synaptic transmission, cholinergic (GO:0007271)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|ligand-gated ion channel activity (GO:0015276)			endometrium(7)|kidney(1)|lung(13)|prostate(1)	22					Dextromethorphan(DB00514)|Galantamine(DB00674)|Levomethadyl Acetate(DB01227)|Nicotine(DB00184)|Pentolinium(DB01090)	GATGGAGAAGGTGACCAGCAC	0.587																																						ENST00000261751.3																			0				endometrium(7)|kidney(1)|lung(13)|prostate(1)	22						c.(919-921)aCc>aTc		cholinergic receptor, nicotinic, beta 4 (neuronal)							153	122	133					15																	78921727		2196	4293	6489	SO:0001583	missense	1143				regulation of neurotransmitter secretion|synaptic transmission involved in micturition|synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity	g.chr15:78921727G>A	U48861	CCDS10306.1, CCDS58392.1	15q24	2012-02-11	2012-02-07		ENSG00000117971	ENSG00000117971		"Cholinergic receptors", "Ligand-gated ion channels / Acetylcholine receptors, nicotinic"	1964	protein-coding gene	gene with protein product	"acetylcholine receptor, nicotinic, beta 4 (neuronal)"	118509	"cholinergic receptor, nicotinic, beta polypeptide 4"			2004777	Standard	NM_000750		Approved		uc002bed.1	P30926	OTTHUMG00000143860	ENST00000261751.3:c.920C>T	15.37:g.78921727G>A	ENSP00000261751:p.Thr307Ile					CHRNB4_ENST00000412074.2_Intron	p.T307I	NM_000750.3	NP_000741.1	P30926	ACHB4_HUMAN			5	1031	-			307					A4FTX5|E9PHE8|Q16607|Q4VBA5|Q8WXC8|Q9BQR4	Missense_Mutation	SNP	ENST00000261751.3	37	c.920C>T	CCDS10306.1	.	.	.	.	.	.	.	.	.	.	G	27.7	4.850990	0.91277	.	.	ENSG00000117971	ENST00000261751	T	0.71461	-0.57	5.57	5.57	0.84162	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.000000	0.85682	D	0.000000	D	0.86176	0.5870	M	0.83223	2.63	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.87593	0.2492	10	0.87932	D	0	.	19.53	0.95225	0.0:0.0:1.0:0.0	.	307	P30926	ACHB4_HUMAN	I	307	ENSP00000261751:T307I	ENSP00000261751:T307I	T	-	2	0	CHRNB4	76708782	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.800000	0.99124	2.637000	0.89404	0.655000	0.94253	ACC		0.587	CHRNB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000290108.1			37	55	0	0	0	1	0	37	55					A	78921727	G	A	78921727	3	1	306	1	0	0	0	0	1	0	0	0	3393	1261	44	3	584	3	CHRNB4	15	78921727	Missense_Mutation	SNP	G	TCGA-KK-A59X-01A-11D-A29Q-08	3341104	78921727	23609665	39	15698											
GDPD3	79153	broad.mit.edu	37	chr16	30124727	30124727	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgtgtgcagcagatgaggccGgcgcaggaagaagatggaga	12	4	18	7	3	0	5	0	1	0	4	0	7	0	6	1	4	2	3	1	4	2	0	rs529020605		TCGA-KK-A59X-01A-11D-A29Q-08	TCGA-KK-A59X-11A-21D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f555699-002c-43d7-b5ef-22deebbae2a5	2e17d22b-df41-4ea2-afd3-edce529c9a20	g.chr16:30124727G>A	ENST00000406256.3	-	1	450	c.73C>T	c.(73-75)Cgg>Tgg	p.R25W	RP11-455F5.4_ENST00000566190.1_RNA|MAPK3_ENST00000494643.1_5'Flank	NM_024307.2	NP_077283.2	Q7L5L3	GDPD3_HUMAN	glycerophosphodiester phosphodiesterase domain containing 3	25					glycerol metabolic process (GO:0006071)|lipid metabolic process (GO:0006629)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	glycerophosphodiester phosphodiesterase activity (GO:0008889)|metal ion binding (GO:0046872)			biliary_tract(1)|breast(1)|central_nervous_system(1)|large_intestine(2)|lung(6)	11						AGATGAGGCCGGCGCAGGAAG	0.637													G|||	1	0.000199681	8e-04	0	5008	,	,		17788	0		0	False		,,,				2504	0					ENST00000406256.3																			0				biliary_tract(1)|breast(1)|central_nervous_system(1)|large_intestine(2)|lung(6)	11						c.(73-75)Cgg>Tgg		glycerophosphodiester phosphodiesterase domain containing 3							99	119	112					16																	30124727		2144	4253	6397	SO:0001583	missense	79153				glycerol metabolic process|lipid metabolic process	integral to membrane	glycerophosphodiester phosphodiesterase activity|metal ion binding	g.chr16:30124727G>A	AK026256	CCDS10671.2	16p11.2	2008-02-05			ENSG00000102886	ENSG00000102886			28638	protein-coding gene	gene with protein product							Standard	NM_024307		Approved	MGC4171	uc002dwp.3	Q7L5L3	OTTHUMG00000132106	ENST00000406256.3:c.73C>T	16.37:g.30124727G>A	ENSP00000384363:p.Arg25Trp						p.R25W	NM_024307.2	NP_077283.2	Q7L5L3	GDPD3_HUMAN			1	450	-			25					Q9H652	Missense_Mutation	SNP	ENST00000406256.3	37	c.73C>T	CCDS10671.2	.	.	.	.	.	.	.	.	.	.	G	14.04	2.416107	0.42918	.	.	ENSG00000102886	ENST00000406256	.	.	.	5.98	2.86	0.33363	.	0.258976	0.31323	N	0.007843	T	0.51227	0.1662	M	0.63428	1.95	0.28230	N	0.926166	D	0.89917	1.0	P	0.59221	0.854	T	0.43988	-0.9357	9	0.37606	T	0.19	-11.0838	8.607	0.33780	0.147:0.0:0.728:0.125	.	25	Q7L5L3	GDPD3_HUMAN	W	25	.	ENSP00000384363:R25W	R	-	1	2	GDPD3	30032228	1.000000	0.71417	1.000000	0.80357	0.873000	0.50193	0.810000	0.27183	0.405000	0.25532	-0.797000	0.03246	CGG		0.637	GDPD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255144.1	NM_024307		5	361	0	0	0	1	0	5	361					A	30124727	G	A	30124727	3	1	306	1	0	0	0	0	1	0	0	0	6325	1115	39	2	923	2	GDPD3	16	30124727	Missense_Mutation	SNP	G	TCGA-KK-A59X-01A-11D-A29Q-08		30124727	60230026	40	15699											
CCDC135	84229	broad.mit.edu	37	chr16	57738847	57738847	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	accatcaaaccccccagggaCctgtgcagcaggtttgagca	11	6	10	14	0	1	1	1	1	0	0	1	2	1	2	5	2	4	4	5	2	1	1			TCGA-KK-A59X-01A-11D-A29Q-08	TCGA-KK-A59X-11A-21D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f555699-002c-43d7-b5ef-22deebbae2a5	2e17d22b-df41-4ea2-afd3-edce529c9a20	g.chr16:57738847C>T	ENST00000360716.3	+	7	980	c.759C>T	c.(757-759)gaC>gaT	p.D253D	CCDC135_ENST00000394337.4_Silent_p.D253D|CCDC135_ENST00000336825.8_Silent_p.D188D			Q8IY82	CC135_HUMAN		253					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|motile cilium (GO:0031514)				breast(1)|central_nervous_system(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30						CCCCCAGGGACCTGTGCAGCA	0.562																																						ENST00000360716.3																			0				breast(1)|central_nervous_system(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30						c.(757-759)gaC>gaT		coiled-coil domain containing 135							96	90	92					16																	57738847		2198	4300	6498	SO:0001819	synonymous_variant	84229					cytoplasm		g.chr16:57738847C>T																												ENST00000360716.3:c.759C>T	16.37:g.57738847C>T						CCDC135_ENST00000394337.4_Silent_p.D253D|CCDC135_ENST00000336825.8_Silent_p.D188D	p.D253D			Q8IY82	CC135_HUMAN			7	980	+			253					A8K943|Q8NAA0|Q9H080	Silent	SNP	ENST00000360716.3	37	c.759C>T	CCDS10787.1																																																																																				0.562	CCDC135-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433323.2			28	63	0	0	0	1	0	28	63					T	57738847	C	T	57738847	2	4	306	1	0	0	0	0	0	0	0	1	2769	506	18	3		3	CCDC135	16	57738847	Silent	SNP	C	TCGA-KK-A59X-01A-11D-A29Q-08	27614120	57738847	32615906	41	15700											
SLC38A8	146167	broad.mit.edu	37	chr16	84065527	84065527	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggccagaggtagtactgcaCggtgatgaccagggccaggt	9	6	17	9	1	0	3	0	2	0	1	0	3	0	3	3	5	2	3	3	5	2	2			TCGA-KK-A59X-01A-11D-A29Q-08	TCGA-KK-A59X-11A-21D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f555699-002c-43d7-b5ef-22deebbae2a5	2e17d22b-df41-4ea2-afd3-edce529c9a20	g.chr16:84065527C>T	ENST00000299709.3	-	4	576	c.577G>A	c.(577-579)Gtg>Atg	p.V193M		NM_001080442.1	NP_001073911.1	A6NNN8	S38A8_HUMAN	solute carrier family 38, member 8	193					amino acid transport (GO:0006865)|sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	26						TAGTACTGCACGGTGATGACC	0.622																																						ENST00000299709.3																			0				central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	26						c.(577-579)Gtg>Atg		solute carrier family 38, member 8							145	115	125					16																	84065527		2200	4300	6500	SO:0001583	missense	146167				amino acid transport|sodium ion transport	integral to membrane		g.chr16:84065527C>T		CCDS32495.1	16q23.3	2013-05-22				ENSG00000166558		"Solute carriers"	32434	protein-coding gene	gene with protein product		615585					Standard	XM_006721135		Approved		uc002fhg.1	A6NNN8		ENST00000299709.3:c.577G>A	16.37:g.84065527C>T	ENSP00000299709:p.Val193Met						p.V193M	NM_001080442.1	NP_001073911.1	A6NNN8	S38A8_HUMAN			4	576	-			193						Missense_Mutation	SNP	ENST00000299709.3	37	c.577G>A	CCDS32495.1	.	.	.	.	.	.	.	.	.	.	C	16.50	3.139508	0.56936	.	.	ENSG00000166558	ENST00000299709	T	0.02498	4.27	4.92	3.97	0.46021	.	0.334050	0.28706	N	0.014420	T	0.09555	0.0235	M	0.68952	2.095	0.31577	N	0.655582	D	0.67145	0.996	P	0.61397	0.888	T	0.02385	-1.1167	10	0.46703	T	0.11	.	8.7386	0.34543	0.0:0.7522:0.1628:0.0849	.	193	A6NNN8	S38A8_HUMAN	M	193	ENSP00000299709:V193M	ENSP00000299709:V193M	V	-	1	0	SLC38A8	82623028	0.000000	0.05858	0.921000	0.36526	0.635000	0.38103	0.166000	0.16583	1.226000	0.43582	0.549000	0.68633	GTG		0.622	SLC38A8-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432623.1	NM_001080442		39	18	0	0	0	1	0	39	18					T	84065527	C	T	84065527	3	4	306	1	0	0	0	0	1	0	0	0	14610	536	19	1	758	1	SLC38A8	16	84065527	Missense_Mutation	SNP	C	TCGA-KK-A59X-01A-11D-A29Q-08	26326680	84065527	6289226	42	15701											
ZZEF1	23140	broad.mit.edu	37	chr17	3959636	3959636	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agctcatcttcttcactccaTtggctgaaagaaggacataa	13	11	7	10	0	4	2	2	1	2	1	5	3	5	3	1	2	1	2	1	2	3	4			TCGA-KK-A59X-01A-11D-A29Q-08	TCGA-KK-A59X-11A-21D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f555699-002c-43d7-b5ef-22deebbae2a5	2e17d22b-df41-4ea2-afd3-edce529c9a20	g.chr17:3959636T>C	ENST00000381638.2	-	33	5293	c.5169A>G	c.(5167-5169)caA>caG	p.Q1723Q	RNA5SP434_ENST00000516647.1_RNA	NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN	zinc finger, ZZ-type with EF-hand domain 1	1723							calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						CTTCACTCCATTGGCTGAAAG	0.443																																						ENST00000381638.2																			0				central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						c.(5167-5169)caA>caG		zinc finger, ZZ-type with EF-hand domain 1							79	73	75					17																	3959636		2203	4300	6503	SO:0001819	synonymous_variant	23140						calcium ion binding|zinc ion binding	g.chr17:3959636T>C	BC035319	CCDS11043.1	17p13.3	2013-01-10	2004-11-03		ENSG00000074755	ENSG00000074755		"Zinc fingers, ZZ-type", "EF-hand domain containing"	29027	protein-coding gene	gene with protein product			"zinc finger, ZZ-type with EF hand domain 1"			9455477	Standard	XM_005256560		Approved	KIAA0399, ZZZ4, FLJ10821	uc002fxe.3	O43149	OTTHUMG00000090741	ENST00000381638.2:c.5169A>G	17.37:g.3959636T>C							p.Q1723Q	NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN			33	5293	-			1723					A7MBM5|Q6NXG0|Q6ZRA1|Q6ZSF4|Q9NVB9	Silent	SNP	ENST00000381638.2	37	c.5169A>G	CCDS11043.1																																																																																				0.443	ZZEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207480.1	NM_015113		31	48	0	0	0	1	0	31	48					C	3959636	T	C	3959636	2	2	306	1	0	0	0	0	0	0	0	1	18252	1490	52	4		4	ZZEF1	17	3959636	Silent	SNP	T	TCGA-KK-A59X-01A-11D-A29Q-08		3959636	77235574	43	15702											
CDK12	51755	broad.mit.edu	37	chr17	37681027	37681027	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agccacctccatccaaaactTctcgaaaagaaactacctca	16	7	3	15	1	2	1	1	0	1	1	5	2	4	1	5	0	4	0	5	0	6	2			TCGA-KK-A59X-01A-11D-A29Q-08	TCGA-KK-A59X-11A-21D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f555699-002c-43d7-b5ef-22deebbae2a5	2e17d22b-df41-4ea2-afd3-edce529c9a20	g.chr17:37681027T>C	ENST00000447079.4	+	12	3229	c.3196T>C	c.(3196-3198)Tct>Cct	p.S1066P	CDK12_ENST00000430627.2_Missense_Mutation_p.S1066P	NM_015083.1|NM_016507.2	NP_055898.1|NP_057591.2	Q9NYV4	CDK12_HUMAN	cyclin-dependent kinase 12	1066					mRNA processing (GO:0006397)|phosphorylation of RNA polymerase II C-terminal domain (GO:0070816)|protein autophosphorylation (GO:0046777)|regulation of MAP kinase activity (GO:0043405)|RNA splicing (GO:0008380)	cyclin K-CDK12 complex (GO:0002944)|nuclear cyclin-dependent protein kinase holoenzyme complex (GO:0019908)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cyclin binding (GO:0030332)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)			NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3)	70						ATCCAAAACTTCTCGAAAAGA	0.557			"Mis, N, F"		serous ovarian					TCGA Ovarian(9;0.13)																												ENST00000447079.4				Rec	yes		17	17q12	51755	"Mis, N, F"	cyclin-dependent kinase 12			E			serous ovarian		0				NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3)	70						c.(3196-3198)Tct>Cct		cyclin-dependent kinase 12							117	117	117					17																	37681027		2203	4300	6503	SO:0001583	missense	51755				mRNA processing|phosphorylation of RNA polymerase II C-terminal domain|protein autophosphorylation|regulation of MAP kinase activity|RNA splicing	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck|nucleolus	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity	g.chr17:37681027T>C	AF227198	CCDS11337.1, CCDS45666.1	17q12	2011-10-25	2009-12-16	2009-12-16	ENSG00000167258	ENSG00000167258		"Cyclin-dependent kinases"	24224	protein-coding gene	gene with protein product	"CDC2 related protein kinase 7"	615514	"Cdc2-related kinase, arginine/serine-rich"	CRKRS		10048485, 11683387, 19884882	Standard	XM_005257456		Approved	CRK7, CRKR, KIAA0904	uc010cvv.3	Q9NYV4	OTTHUMG00000133214	ENST00000447079.4:c.3196T>C	17.37:g.37681027T>C	ENSP00000398880:p.Ser1066Pro	TCGA Ovarian(9;0.13)				CDK12_ENST00000430627.2_Missense_Mutation_p.S1066P	p.S1066P	NM_015083.1|NM_016507.2	NP_055898.1|NP_057591.2	Q9NYV4	CDK12_HUMAN			12	3229	+			1066					A7E2B2|B4DYX4|B9EIQ6|O94978	Missense_Mutation	SNP	ENST00000447079.4	37	c.3196T>C	CCDS11337.1	.	.	.	.	.	.	.	.	.	.	T	5.316	0.243741	0.10077	.	.	ENSG00000167258	ENST00000430627;ENST00000447079	T;T	0.66995	-0.23;-0.24	4.98	2.76	0.32466	.	0.000000	0.42821	D	0.000641	T	0.32346	0.0826	N	0.02751	-0.505	0.39962	D	0.974672	B;B;B	0.06786	0.0;0.0;0.001	B;B;B	0.08055	0.001;0.001;0.003	T	0.29731	-1.0002	10	0.02654	T	1	-1.499	6.9199	0.24383	0.0:0.2884:0.0:0.7116	.	1065;1066;1066	E7EUM9;Q9NYV4;Q9NYV4-2	.;CDK12_HUMAN;.	P	1066	ENSP00000407720:S1066P;ENSP00000398880:S1066P	ENSP00000407720:S1066P	S	+	1	0	CDK12	34934553	0.842000	0.29525	0.985000	0.45067	0.979000	0.70002	0.783000	0.26802	0.395000	0.25257	0.460000	0.39030	TCT		0.557	CDK12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256941.4	NM_016507		71	135	0	0	0	1	0	71	135					C	37681027	T	C	37681027	3	2	306	1	0	0	0	0	1	0	0	0	3128	1783	62	4	3242	4	CDK12	17	37681027	Missense_Mutation	SNP	T	TCGA-KK-A59X-01A-11D-A29Q-08	33721391	37681027	43514183	44	15703											
KRTAP4-9	100132386	broad.mit.edu	37	chr17	39261742	39261742	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agctgctgtgagaccacctgCtgcaggaccacctgctgccg	7	7	12	15	1	0	1	0	1	0	1	0	3	0	2	5	1	6	5	5	1	0	0	rs549296843	byFrequency	TCGA-KK-A59X-01A-11D-A29Q-08	TCGA-KK-A59X-11A-21D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f555699-002c-43d7-b5ef-22deebbae2a5	2e17d22b-df41-4ea2-afd3-edce529c9a20	g.chr17:39261742C>T	ENST00000391415.1	+	1	159	c.102C>T	c.(100-102)tgC>tgT	p.C34C		NM_001146041.1	NP_001139513.1	Q9BYQ8	KRA49_HUMAN	keratin associated protein 4-9	34	29 X 5 AA repeats of C-C-[RQVHIEK]- [SPTR]-[VSTQCRNP].				aging (GO:0007568)|hair cycle (GO:0042633)	keratin filament (GO:0045095)				central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|urinary_tract(3)	14						AGACCACCTGCTGCAGGACCA	0.652													C|||	9	0.00179712	0.003	0	5008	,	,		17191	0		0	False		,,,				2504	0.0051					ENST00000391415.1																			0				central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|urinary_tract(3)	14						c.(100-102)tgC>tgT		keratin associated protein 4-9							16	21	20					17																	39261742		692	1591	2283	SO:0001819	synonymous_variant	100132386					keratin filament		g.chr17:39261742C>T	AJ406941	CCDS54124.1	17q21.2	2013-06-25			ENSG00000212722	ENSG00000212722		"Keratin associated proteins"	18910	protein-coding gene	gene with protein product							Standard	NM_001146041		Approved	KAP4.9	uc010wfp.2	Q9BYQ8	OTTHUMG00000133584	ENST00000391415.1:c.102C>T	17.37:g.39261742C>T							p.C34C	NM_001146041.1	NP_001139513.1	Q9BYQ8	KRA49_HUMAN			1	159	+			34			29 X 5 AA repeats of C-C-[RQVHIEK]- [SPTR]-[VSTQCRNP].			Silent	SNP	ENST00000391415.1	37	c.102C>T	CCDS54124.1																																																																																				0.652	KRTAP4-9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257688.1	NM_001146041		7	78	0	0	0	1	0	7	78					T	39261742	C	T	39261742	2	4	306	1	0	0	0	0	0	0	0	1	8557	805	28	3		3	KRTAP4-9	17	39261742	Silent	SNP	C	TCGA-KK-A59X-01A-11D-A29Q-08	1580715	39261742	41933468	45	15704											
RUNDC3A	10900	broad.mit.edu	37	chr17	42390823	42390823	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggtggcactgatggagaagcGcatgtcagaatacatcacca	13	7	12	9	1	2	3	2	1	0	2	2	4	2	3	1	3	2	2	1	3	3	1			TCGA-KK-A59X-01A-11D-A29Q-08	TCGA-KK-A59X-11A-21D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f555699-002c-43d7-b5ef-22deebbae2a5	2e17d22b-df41-4ea2-afd3-edce529c9a20	g.chr17:42390823G>A	ENST00000426726.3	+	4	684	c.410G>A	c.(409-411)cGc>cAc	p.R137H	RUNDC3A_ENST00000590941.1_Missense_Mutation_p.R132H|RUNDC3A_ENST00000225441.7_Missense_Mutation_p.R137H|AC003102.3_ENST00000588097.1_RNA	NM_001144825.1	NP_001138297.1	Q59EK9	RUN3A_HUMAN	RUN domain containing 3A	137	Interaction with RAP2A. {ECO:0000250}.|RUN. {ECO:0000255|PROSITE- ProRule:PRU00178}.				positive regulation of cGMP biosynthetic process (GO:0030828)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	guanylate cyclase activator activity (GO:0030250)|small GTPase regulator activity (GO:0005083)			large_intestine(1)|lung(1)|ovary(2)	4		Prostate(33;0.0233)		BRCA - Breast invasive adenocarcinoma(366;0.189)		ATGGAGAAGCGCATGTCAGAA	0.572																																					Pancreas(82;1061 1416 11136 20771 23901)	ENST00000426726.3																			0				large_intestine(1)|lung(1)|ovary(2)	4						c.(409-411)cGc>cAc		RUN domain containing 3A							72	76	75					17																	42390823		2092	4221	6313	SO:0001583	missense	10900				small GTPase mediated signal transduction		small GTPase regulator activity	g.chr17:42390823G>A	AF055026	CCDS45698.1, CCDS45699.1, CCDS59294.1	17q21.31	2008-02-05			ENSG00000108309	ENSG00000108309			16984	protein-coding gene	gene with protein product		605448				9523700	Standard	NM_006695		Approved	RPIP8, RAP2IP	uc002igl.4	Q59EK9	OTTHUMG00000169259	ENST00000426726.3:c.410G>A	17.37:g.42390823G>A	ENSP00000410862:p.Arg137His					RUNDC3A_ENST00000225441.7_Missense_Mutation_p.R137H|RUNDC3A_ENST00000590941.1_Missense_Mutation_p.R132H|AC003102.3_ENST00000588097.1_RNA	p.R137H	NM_001144825.1	NP_001138297.1	Q59EK9	RUN3A_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.189)	4	684	+		Prostate(33;0.0233)	137			Interaction with RAP2A (By similarity).|RUN.		B2R974|O15483|O60651|Q7Z3S2|Q9UF50	Missense_Mutation	SNP	ENST00000426726.3	37	c.410G>A	CCDS45698.1	.	.	.	.	.	.	.	.	.	.	g	20.7	4.026540	0.75390	.	.	ENSG00000108309	ENST00000426726;ENST00000225441	T;T	0.33438	1.41;1.41	4.56	4.56	0.56223	RUN (3);	0.000000	0.85682	D	0.000000	T	0.49253	0.1546	L	0.53671	1.685	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.998;0.998;0.998	T	0.36792	-0.9733	10	0.23891	T	0.37	-20.003	16.0991	0.81158	0.0:0.0:1.0:0.0	.	137;137;132;137	Q59EK9;Q59EK9-4;Q59EK9-2;Q59EK9-3	RUN3A_HUMAN;.;.;.	H	137	ENSP00000410862:R137H;ENSP00000225441:R137H	ENSP00000225441:R137H	R	+	2	0	RUNDC3A	39746349	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.418000	0.80167	2.098000	0.63641	0.462000	0.41574	CGC		0.572	RUNDC3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403173.2	NM_006695		15	39	0	0	0	1	0	15	39					A	42390823	G	A	42390823	3	1	306	1	0	0	0	0	1	0	0	0	13744	1087	38	1	424	1	RUNDC3A	17	42390823	Missense_Mutation	SNP	G	TCGA-KK-A59X-01A-11D-A29Q-08	3129081	42390823	38804387	46	15705											
SPOP	8405	broad.mit.edu	37	chr17	47696643	47696643	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cattcaggatggagaatttgAattttgcccgaacttcactc	11	13	8	9	1	2	2	2	1	0	1	3	5	2	3	1	2	2	0	1	2	3	5	rs193920894		TCGA-KK-A59X-01A-11D-A29Q-08	TCGA-KK-A59X-11A-21D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f555699-002c-43d7-b5ef-22deebbae2a5	2e17d22b-df41-4ea2-afd3-edce529c9a20	g.chr17:47696643A>C	ENST00000393328.2	-	5	670	c.305T>G	c.(304-306)tTc>tGc	p.F102C	SPOP_ENST00000513080.1_5'Flank|SPOP_ENST00000347630.2_Missense_Mutation_p.F102C|SPOP_ENST00000504102.1_Missense_Mutation_p.F102C|SPOP_ENST00000503676.1_Missense_Mutation_p.F102C|SPOP_ENST00000393331.3_Missense_Mutation_p.F102C	NM_003563.3	NP_003554.1	O43791	SPOP_HUMAN	speckle-type POZ protein	102	MATH. {ECO:0000255|PROSITE- ProRule:PRU00129}.|Required for nuclear localization.				glucose homeostasis (GO:0042593)|positive regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902237)|positive regulation of type B pancreatic cell apoptotic process (GO:2000676)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	Cul3-RING ubiquitin ligase complex (GO:0031463)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	ubiquitin protein ligase binding (GO:0031625)	p.F102C(2)		endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						GGAGAATTTGAATTTTGCCCG	0.408										Prostate(2;0.17)																												ENST00000393331.3																			2	Substitution - Missense(2)	p.F102C(2)	prostate(2)	endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						c.(304-306)tTc>tGc		speckle-type POZ protein							147	136	140					17																	47696643		2203	4300	6503	SO:0001583	missense	8405				mRNA processing	nucleus	protein binding	g.chr17:47696643A>C	AJ000644	CCDS11551.1	17q21.33	2013-01-09			ENSG00000121067	ENSG00000121067		"BTB/POZ domain containing"	11254	protein-coding gene	gene with protein product		602650				9414087	Standard	NM_001007227		Approved	TEF2, BTBD32	uc002ipg.3	O43791	OTTHUMG00000161496	ENST00000393328.2:c.305T>G	17.37:g.47696643A>C	ENSP00000377001:p.Phe102Cys	Prostate(2;0.17)				SPOP_ENST00000504102.1_Missense_Mutation_p.F102C|SPOP_ENST00000503676.1_Missense_Mutation_p.F102C|SPOP_ENST00000393328.2_Missense_Mutation_p.F102C|SPOP_ENST00000347630.2_Missense_Mutation_p.F102C	p.F102C	NM_001007226.1|NM_001007227.1	NP_001007227.1|NP_001007228.1	O43791	SPOP_HUMAN			6	775	-			102			MATH.|Required for nuclear localization.		B2R6S3|D3DTW7|Q53HJ1	Missense_Mutation	SNP	ENST00000393328.2	37	c.305T>G	CCDS11551.1	.	.	.	.	.	.	.	.	.	.	A	23.1	4.374920	0.82573	.	.	ENSG00000121067	ENST00000393328;ENST00000393331;ENST00000347630;ENST00000504102;ENST00000503676;ENST00000513872;ENST00000509079;ENST00000505581;ENST00000507970;ENST00000514121;ENST00000515508	T;T;T;T;T;T;T;T;T;T	0.68903	-0.36;-0.36;-0.36;-0.36;-0.36;-0.36;-0.36;-0.36;-0.36;-0.36	5.52	5.52	0.82312	TRAF-type (1);TRAF-like (1);MATH (3);	0.000000	0.85682	D	0.000000	D	0.82328	0.5013	M	0.80982	2.52	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.84153	0.0424	10	0.56958	D	0.05	-11.8278	15.4649	0.75390	1.0:0.0:0.0:0.0	.	102	O43791	SPOP_HUMAN	C	102;102;102;102;102;55;102;102;102;102;102	ENSP00000377001:F102C;ENSP00000377004:F102C;ENSP00000240327:F102C;ENSP00000425905:F102C;ENSP00000420908:F102C;ENSP00000426986:F102C;ENSP00000420960:F102C;ENSP00000426262:F102C;ENSP00000424119:F102C;ENSP00000426537:F102C	ENSP00000240327:F102C	F	-	2	0	SPOP	45051642	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.135000	0.94478	2.317000	0.78254	0.460000	0.39030	TTC		0.408	SPOP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365154.2	NM_003563		53	58	0	0	0	1	0	53	58					C	47696643	A	C	47696643	3	2	306	1	0	0	0	0	1	0	0	0	15083	246	9	5	847	5	SPOP	17	47696643	Missense_Mutation	SNP	A	TCGA-KK-A59X-01A-11D-A29Q-08	5305820	47696643	33498567	47	15706											
HAUS1	115106	broad.mit.edu	37	chr18	43685267	43685267	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ctttcagaacgcaacagggtCcgggacagggatgtctacct	10	8	12	11	2	2	1	1	0	1	1	3	3	3	3	2	3	3	1	2	3	3	2			TCGA-KK-A59X-01A-11D-A29Q-08	TCGA-KK-A59X-11A-21D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f555699-002c-43d7-b5ef-22deebbae2a5	2e17d22b-df41-4ea2-afd3-edce529c9a20	g.chr18:43685267C>T	ENST00000282058.6	+	2	218	c.138C>T	c.(136-138)gtC>gtT	p.V46V	HAUS1_ENST00000585518.1_Silent_p.V46V|ATP5A1_ENST00000282050.2_5'Flank	NM_138443.3	NP_612452.1	Q96CS2	HAUS1_HUMAN	HAUS augmin-like complex, subunit 1	46					centrosome organization (GO:0051297)|mitotic nuclear division (GO:0007067)|spindle assembly (GO:0051225)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|HAUS complex (GO:0070652)|microtubule (GO:0005874)				endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)	7						GCAACAGGGTCCGGGACAGGG	0.433																																					NSCLC(79;183 1423 5813 15597 38427)	ENST00000282058.6																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)	7						c.(136-138)gtC>gtT		HAUS augmin-like complex, subunit 1							69	64	65					18																	43685267		2203	4300	6503	SO:0001819	synonymous_variant	115106				cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|spindle pole		g.chr18:43685267C>T	AY360137	CCDS11928.1	18q21.1	2013-10-11	2009-04-20	2009-04-20	ENSG00000152240	ENSG00000152240		"HAUS augmin-like complex subunits"	25174	protein-coding gene	gene with protein product		608775	"coiled-coil domain containing 5 (spindle associated)"	CCDC5		19427217	Standard	NR_026978		Approved	HEI-C, HsT1461, FLJ40084	uc002lbu.3	Q96CS2	OTTHUMG00000132638	ENST00000282058.6:c.138C>T	18.37:g.43685267C>T						HAUS1_ENST00000585518.1_Silent_p.V46V	p.V46V	NM_138443.3	NP_612452.1	Q96CS2	HAUS1_HUMAN			2	218	+			46					B2RDM7|Q8N837	Silent	SNP	ENST00000282058.6	37	c.138C>T	CCDS11928.1																																																																																				0.433	HAUS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255885.1	NM_138443		23	13	0	0	0	1	0	23	13					T	43685267	C	T	43685267	2	4	306	1	0	0	0	0	0	0	0	1	6965	842	30	3		3	HAUS1	18	43685267	Silent	SNP	C	TCGA-KK-A59X-01A-11D-A29Q-08		43685267	34391981	48	15707											
SMAD4	4089	broad.mit.edu	37	chr18	48591888	48591888	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgccctattgttactgttGatggatacgtggacccttct	6	15	10	10	1	1	1	0	1	1	0	1	3	1	3	2	2	3	3	2	2	3	6			TCGA-KK-A59X-01A-11D-A29Q-08	TCGA-KK-A59X-11A-21D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f555699-002c-43d7-b5ef-22deebbae2a5	2e17d22b-df41-4ea2-afd3-edce529c9a20	g.chr18:48591888G>T	ENST00000342988.3	+	9	1589	c.1051G>T	c.(1051-1053)Gat>Tat	p.D351Y	SMAD4_ENST00000588745.1_Missense_Mutation_p.D255Y|SMAD4_ENST00000398417.2_Missense_Mutation_p.D351Y	NM_005359.5	NP_005350.1	Q13485	SMAD4_HUMAN	SMAD family member 4	351	MH2. {ECO:0000255|PROSITE- ProRule:PRU00439}.		D -> N (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		atrioventricular canal development (GO:0036302)|atrioventricular valve formation (GO:0003190)|axon guidance (GO:0007411)|BMP signaling pathway (GO:0030509)|brainstem development (GO:0003360)|branching involved in ureteric bud morphogenesis (GO:0001658)|cardiac septum development (GO:0003279)|cell proliferation (GO:0008283)|developmental growth (GO:0048589)|endocardial cell differentiation (GO:0060956)|endoderm development (GO:0007492)|endothelial cell activation (GO:0042118)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|formation of anatomical boundary (GO:0048859)|gastrulation with mouth forming second (GO:0001702)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|intracellular signal transduction (GO:0035556)|mesoderm development (GO:0007498)|metanephric mesenchyme morphogenesis (GO:0072133)|negative regulation of cell death (GO:0060548)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nephrogenic mesenchyme morphogenesis (GO:0072134)|neural crest cell differentiation (GO:0014033)|neuron fate commitment (GO:0048663)|palate development (GO:0060021)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation involved in heart valve morphogenesis (GO:0003251)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of binding (GO:0051098)|regulation of hair follicle development (GO:0051797)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|regulation of transforming growth factor beta2 production (GO:0032909)|response to hypoxia (GO:0001666)|response to transforming growth factor beta (GO:0071559)|sebaceous gland development (GO:0048733)|SMAD protein complex assembly (GO:0007183)|SMAD protein signal transduction (GO:0060395)|somite rostral/caudal axis specification (GO:0032525)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	activin responsive factor complex (GO:0032444)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMAD protein complex (GO:0071141)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|I-SMAD binding (GO:0070411)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|R-SMAD binding (GO:0070412)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity (GO:0030616)	p.0?(36)|p.D351H(8)|p.?(2)|p.V350_D351>DN(1)|p.D351N(1)		NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1)	454		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)		TGTTACTGTTGATGGATACGT	0.438																																						ENST00000342988.3																			48	Whole gene deletion(36)|Substitution - Missense(9)|Unknown(2)|Complex - compound substitution(1)	p.0?(36)|p.D351H(8)|p.?(2)|p.V350_D351>DN(1)|p.D351N(1)	pancreas(28)|large_intestine(7)|lung(3)|breast(3)|stomach(2)|ovary(2)|upper_aerodigestive_tract(1)|small_intestine(1)|oesophagus(1)	NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1)	454						c.(1051-1053)Gat>Tat		SMAD family member 4							238	200	213					18																	48591888		2203	4300	6503	SO:0001583	missense	4089				BMP signaling pathway|negative regulation of cell growth|negative regulation of protein catabolic process|negative regulation of transcription, DNA-dependent|palate development|positive regulation of epithelial to mesenchymal transition|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|response to transforming growth factor beta stimulus|SMAD protein complex assembly|SMAD protein signal transduction|transforming growth factor beta receptor signaling pathway	activin responsive factor complex|centrosome|cytosol	I-SMAD binding|protein homodimerization activity|R-SMAD binding|transcription regulatory region DNA binding|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity	g.chr18:48591888G>T	U44378	CCDS11950.1	18q21.1	2014-09-17	2006-11-06	2004-05-26	ENSG00000141646	ENSG00000141646		"SMADs"	6770	protein-coding gene	gene with protein product		600993	"MAD, mothers against decapentaplegic homolog 4 (Drosophila)", "SMAD, mothers against DPP homolog 4 (Drosophila)"	MADH4		8553070, 8774881	Standard	NM_005359		Approved	DPC4	uc010xdp.2	Q13485	OTTHUMG00000132696	ENST00000342988.3:c.1051G>T	18.37:g.48591888G>T	ENSP00000341551:p.Asp351Tyr					SMAD4_ENST00000588745.1_Missense_Mutation_p.D255Y|SMAD4_ENST00000398417.2_Missense_Mutation_p.D351Y	p.D351Y	NM_005359.5	NP_005350.1	Q13485	SMAD4_HUMAN		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)	9	1589	+		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)	351		D -> N (in a colorectal cancer sample; somatic mutation).	MH2.		A8K405	Missense_Mutation	SNP	ENST00000342988.3	37	c.1051G>T	CCDS11950.1	.	.	.	.	.	.	.	.	.	.	G	29.9	5.043643	0.93685	.	.	ENSG00000141646	ENST00000342988;ENST00000544926;ENST00000398417	D;D	0.98493	-4.96;-4.96	5.86	5.86	0.93980	SMAD domain-like (1);SMAD/FHA domain (1);SMAD domain, Dwarfin-type (3);	0.044633	0.85682	D	0.000000	D	0.99306	0.9757	H	0.94886	3.595	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99023	1.0818	10	0.87932	D	0	.	18.9646	0.92691	0.0:0.0:1.0:0.0	.	351	Q13485	SMAD4_HUMAN	Y	351	ENSP00000341551:D351Y;ENSP00000381452:D351Y	ENSP00000341551:D351Y	D	+	1	0	SMAD4	46845886	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.828000	0.86729	2.771000	0.95319	0.563000	0.77884	GAT		0.438	SMAD4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255993.3	NM_005359		4	62	1	0	0.00116845	1	0.00118382	4	62					T	48591888	G	T	48591888	3	4	306	1	0	0	0	0	1	0	0	0	14760	1290	45	5	1081	5	SMAD4	18	48591888	Missense_Mutation	SNP	G	TCGA-KK-A59X-01A-11D-A29Q-08	4906621	48591888	29485360	49	15708			1	34		2	2	14	N	G_A	2.645592e-05
SMAD4	4089	broad.mit.edu	37	chr18	48591901	48591901	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tactgttgatggatacgtggAcccttctggaggagatcgct	8	12	13	8	2	1	2	0	1	1	1	2	6	1	5	1	4	2	2	1	4	2	4			TCGA-KK-A59X-01A-11D-A29Q-08	TCGA-KK-A59X-11A-21D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f555699-002c-43d7-b5ef-22deebbae2a5	2e17d22b-df41-4ea2-afd3-edce529c9a20	g.chr18:48591901A>T	ENST00000342988.3	+	9	1602	c.1064A>T	c.(1063-1065)gAc>gTc	p.D355V	SMAD4_ENST00000588745.1_Missense_Mutation_p.D259V|SMAD4_ENST00000398417.2_Missense_Mutation_p.D355V	NM_005359.5	NP_005350.1	Q13485	SMAD4_HUMAN	SMAD family member 4	355	MH2. {ECO:0000255|PROSITE- ProRule:PRU00439}.				atrioventricular canal development (GO:0036302)|atrioventricular valve formation (GO:0003190)|axon guidance (GO:0007411)|BMP signaling pathway (GO:0030509)|brainstem development (GO:0003360)|branching involved in ureteric bud morphogenesis (GO:0001658)|cardiac septum development (GO:0003279)|cell proliferation (GO:0008283)|developmental growth (GO:0048589)|endocardial cell differentiation (GO:0060956)|endoderm development (GO:0007492)|endothelial cell activation (GO:0042118)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|formation of anatomical boundary (GO:0048859)|gastrulation with mouth forming second (GO:0001702)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|intracellular signal transduction (GO:0035556)|mesoderm development (GO:0007498)|metanephric mesenchyme morphogenesis (GO:0072133)|negative regulation of cell death (GO:0060548)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nephrogenic mesenchyme morphogenesis (GO:0072134)|neural crest cell differentiation (GO:0014033)|neuron fate commitment (GO:0048663)|palate development (GO:0060021)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation involved in heart valve morphogenesis (GO:0003251)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of binding (GO:0051098)|regulation of hair follicle development (GO:0051797)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|regulation of transforming growth factor beta2 production (GO:0032909)|response to hypoxia (GO:0001666)|response to transforming growth factor beta (GO:0071559)|sebaceous gland development (GO:0048733)|SMAD protein complex assembly (GO:0007183)|SMAD protein signal transduction (GO:0060395)|somite rostral/caudal axis specification (GO:0032525)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	activin responsive factor complex (GO:0032444)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMAD protein complex (GO:0071141)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|I-SMAD binding (GO:0070411)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|R-SMAD binding (GO:0070412)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity (GO:0030616)	p.0?(36)|p.?(2)|p.D355G(2)|p.D355A(1)		NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1)	454		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)		GGATACGTGGACCCTTCTGGA	0.428																																						ENST00000342988.3																			41	Whole gene deletion(36)|Substitution - Missense(3)|Unknown(2)	p.0?(36)|p.?(2)|p.D355G(2)|p.D355A(1)	pancreas(27)|large_intestine(5)|breast(3)|stomach(2)|lung(2)|upper_aerodigestive_tract(1)|oesophagus(1)	NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1)	454						c.(1063-1065)gAc>gTc		SMAD family member 4							216	180	192					18																	48591901		2203	4300	6503	SO:0001583	missense	4089				BMP signaling pathway|negative regulation of cell growth|negative regulation of protein catabolic process|negative regulation of transcription, DNA-dependent|palate development|positive regulation of epithelial to mesenchymal transition|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|response to transforming growth factor beta stimulus|SMAD protein complex assembly|SMAD protein signal transduction|transforming growth factor beta receptor signaling pathway	activin responsive factor complex|centrosome|cytosol	I-SMAD binding|protein homodimerization activity|R-SMAD binding|transcription regulatory region DNA binding|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity	g.chr18:48591901A>T	U44378	CCDS11950.1	18q21.1	2014-09-17	2006-11-06	2004-05-26	ENSG00000141646	ENSG00000141646		"SMADs"	6770	protein-coding gene	gene with protein product		600993	"MAD, mothers against decapentaplegic homolog 4 (Drosophila)", "SMAD, mothers against DPP homolog 4 (Drosophila)"	MADH4		8553070, 8774881	Standard	NM_005359		Approved	DPC4	uc010xdp.2	Q13485	OTTHUMG00000132696	ENST00000342988.3:c.1064A>T	18.37:g.48591901A>T	ENSP00000341551:p.Asp355Val					SMAD4_ENST00000588745.1_Missense_Mutation_p.D259V|SMAD4_ENST00000398417.2_Missense_Mutation_p.D355V	p.D355V	NM_005359.5	NP_005350.1	Q13485	SMAD4_HUMAN		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)	9	1602	+		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)	355			MH2.		A8K405	Missense_Mutation	SNP	ENST00000342988.3	37	c.1064A>T	CCDS11950.1	.	.	.	.	.	.	.	.	.	.	A	28.1	4.887993	0.91814	.	.	ENSG00000141646	ENST00000342988;ENST00000544926;ENST00000398417	D;D	0.98135	-4.74;-4.74	5.86	5.86	0.93980	SMAD domain-like (1);SMAD/FHA domain (1);SMAD domain, Dwarfin-type (3);	0.000000	0.85682	D	0.000000	D	0.99074	0.9682	H	0.94264	3.515	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99433	1.0936	10	0.87932	D	0	.	15.2431	0.73485	1.0:0.0:0.0:0.0	.	355	Q13485	SMAD4_HUMAN	V	355	ENSP00000341551:D355V;ENSP00000381452:D355V	ENSP00000341551:D355V	D	+	2	0	SMAD4	46845899	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.159000	0.94728	2.237000	0.73441	0.460000	0.39030	GAC		0.428	SMAD4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255993.3	NM_005359		37	25	0	0	0	1	0	37	25					T	48591901	A	T	48591901	3	4	306	1	0	0	0	0	1	0	0	0	14760	275	10	5	1094	5	SMAD4	18	48591901	Missense_Mutation	SNP	A	TCGA-KK-A59X-01A-11D-A29Q-08	13	48591901	29485347	50	15709			1	34		2	2	14	N	G_A	2.645592e-05
MADCAM1	8174	broad.mit.edu	37	chr19	504757	504757	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctccccagcgtccaaacctgCgggtgaccagctgcccgcgg	6	5	12	18	4	0	1	0	1	0	0	2	1	2	1	6	2	5	1	6	2	1	0	rs145604202		TCGA-KK-A59X-01A-11D-A29Q-08	TCGA-KK-A59X-11A-21D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f555699-002c-43d7-b5ef-22deebbae2a5	2e17d22b-df41-4ea2-afd3-edce529c9a20	g.chr19:504757C>T	ENST00000215637.3	+	5	987	c.941C>T	c.(940-942)gCg>gTg	p.A314V	AC005775.2_ENST00000592413.1_RNA|MADCAM1_ENST00000346144.4_Missense_Mutation_p.A227V|TPGS1_ENST00000359315.5_5'Flank|MADCAM1_ENST00000587541.1_Missense_Mutation_p.A95V|MADCAM1_ENST00000382683.4_Missense_Mutation_p.A132V	NM_130760.2	NP_570116.2	Q13477	MADCA_HUMAN	mucosal vascular addressin cell adhesion molecule 1	314	Mucin-like.				aging (GO:0007568)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|embryo development (GO:0009790)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|immune response (GO:0006955)|integrin-mediated signaling pathway (GO:0007229)|keratinocyte differentiation (GO:0030216)|leukocyte tethering or rolling (GO:0050901)|positive regulation of leukocyte migration (GO:0002687)|receptor clustering (GO:0043113)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	integrin binding involved in cell-matrix adhesion (GO:0098640)			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(4)|prostate(1)|skin(2)	10		all_cancers(10;4.25e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TCCAAACCTGCGGGTGACCAG	0.672																																						ENST00000587541.1																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|lung(4)|prostate(1)|skin(2)	10						c.(283-285)gCg>gTg		mucosal vascular addressin cell adhesion molecule 1							47	55	52					19																	504757		2203	4298	6501	SO:0001583	missense	8174				cell adhesion|immune response|regulation of immune response|signal transduction	integral to membrane|membrane fraction|plasma membrane		g.chr19:504757C>T	U43628	CCDS12028.1, CCDS12029.1	19p13.3	2013-01-11			ENSG00000099866	ENSG00000099866		"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6765	protein-coding gene	gene with protein product	"mucosal addressin cell adhesion molecule-1"	102670				9162097, 8609404	Standard	NM_130762		Approved	MACAM1	uc002los.3	Q13477	OTTHUMG00000180548	ENST00000215637.3:c.941C>T	19.37:g.504757C>T	ENSP00000215637:p.Ala314Val					MADCAM1_ENST00000215637.3_Missense_Mutation_p.A314V|AC005775.2_ENST00000592413.1_RNA|MADCAM1_ENST00000382683.4_Missense_Mutation_p.A132V|MADCAM1_ENST00000346144.4_Missense_Mutation_p.A227V	p.A95V			Q13477	MADCA_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	3	1138	+		all_cancers(10;4.25e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)	314			Ig-like 1.		A5PKV4|B2RPL9|O60222|O75867|Q5UGI7	Missense_Mutation	SNP	ENST00000215637.3	37	c.284C>T	CCDS12028.1	.	.	.	.	.	.	.	.	.	.	C	6.630	0.484641	0.12641	.	.	ENSG00000099866	ENST00000537731;ENST00000542525;ENST00000543297;ENST00000215637;ENST00000346144;ENST00000382683	T;T	0.15139	2.86;2.45	2.36	-4.71	0.03279	.	1.829740	0.03200	N	0.174616	T	0.08891	0.0220	N	0.19112	0.55	0.09310	N	1	B;B;B	0.15930	0.001;0.015;0.003	B;B;B	0.06405	0.0;0.002;0.0	T	0.20438	-1.0275	10	0.42905	T	0.14	.	0.3435	0.00337	0.3822:0.1793:0.2385:0.2	.	132;227;314	Q5UGI7;B2RPL9;Q13477	.;.;MADCA_HUMAN	V	338;330;322;314;227;132	ENSP00000215637:A314V;ENSP00000304247:A227V	ENSP00000215637:A314V	A	+	2	0	MADCAM1	455757	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.558000	0.02164	-1.156000	0.02818	-0.321000	0.08615	GCG		0.672	MADCAM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451884.1	NM_130760		4	175	0	0	0	1	0	4	175					T	504757	C	T	504757	3	4	306	1	0	0	0	0	1	0	0	0	9151	768	27	1	959	1	MADCAM1	19	504757	Missense_Mutation	SNP	C	TCGA-KK-A59X-01A-11D-A29Q-08		504757	58624226	51	15710											
VAV1	7409	broad.mit.edu	37	chr19	6822295	6822295	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatgaggaggcggaaggcgaCgagatctatgaggacctcat	13	6	15	7	3	2	3	1	2	1	1	2	8	2	6	1	5	0	0	1	5	3	1			TCGA-KK-A59X-01A-11D-A29Q-08	TCGA-KK-A59X-11A-21D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f555699-002c-43d7-b5ef-22deebbae2a5	2e17d22b-df41-4ea2-afd3-edce529c9a20	g.chr19:6822295C>G	ENST00000602142.1	+	5	595	c.513C>G	c.(511-513)gaC>gaG	p.D171E	VAV1_ENST00000596764.1_Missense_Mutation_p.D171E|VAV1_ENST00000539284.1_Missense_Mutation_p.D106E|VAV1_ENST00000304076.2_Missense_Mutation_p.D171E|VAV1_ENST00000599806.1_Missense_Mutation_p.D116E	NM_005428.3	NP_005419.2	P15498	VAV_HUMAN	vav 1 guanine nucleotide exchange factor	171					apoptotic signaling pathway (GO:0097190)|blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil chemotaxis (GO:0030593)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|reactive oxygen species metabolic process (GO:0072593)|regulation of Rac GTPase activity (GO:0032314)|regulation of small GTPase mediated signal transduction (GO:0051056)|regulation of transcription, DNA-templated (GO:0006355)|small GTPase mediated signal transduction (GO:0007264)|T cell activation (GO:0042110)|T cell costimulation (GO:0031295)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|sequence-specific DNA binding transcription factor activity (GO:0003700)			biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(16)|lung(18)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	62						CGGAAGGCGACGAGATCTATG	0.662																																						ENST00000304076.2																			0				biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(16)|lung(18)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	62						c.(511-513)gaC>gaG		vav 1 guanine nucleotide exchange factor							111	81	92					19																	6822295		2201	4298	6499	SO:0001583	missense	7409				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|T cell costimulation	cytosol|plasma membrane	metal ion binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr19:6822295C>G		CCDS12174.1, CCDS59341.1, CCDS59342.1	19p13.2	2013-02-14	2007-07-25			ENSG00000141968		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing", "SH2 domain containing"	12657	protein-coding gene	gene with protein product		164875	"vav 1 oncogene"	VAV		9438848	Standard	NM_005428		Approved		uc010xjh.2	P15498		ENST00000602142.1:c.513C>G	19.37:g.6822295C>G	ENSP00000472929:p.Asp171Glu					VAV1_ENST00000602142.1_Missense_Mutation_p.D171E|VAV1_ENST00000599806.1_Missense_Mutation_p.D116E|VAV1_ENST00000596764.1_Missense_Mutation_p.D171E|VAV1_ENST00000539284.1_Missense_Mutation_p.D106E	p.D171E	NM_001258206.1	NP_001245135.1	P15498	VAV_HUMAN			5	607	+			171					B4DVK9|M0QXX6|Q15860	Missense_Mutation	SNP	ENST00000602142.1	37	c.513C>G	CCDS12174.1	.	.	.	.	.	.	.	.	.	.	C	17.89	3.499188	0.64298	.	.	ENSG00000141968	ENST00000304076;ENST00000539284	T;T	0.58210	1.35;0.35	4.17	-4.59	0.03400	Dbl homology (DH) domain (1);Calponin homology domain (1);	0.065161	0.64402	D	0.000017	T	0.44435	0.1293	L	0.40543	1.245	0.40605	D	0.981618	D;P;B;B	0.61080	0.989;0.782;0.038;0.3	P;P;B;B	0.55577	0.779;0.455;0.106;0.29	T	0.60767	-0.7198	10	0.06099	T	0.92	.	11.4699	0.50261	0.0:0.2612:0.0:0.7388	.	106;171;116;171	F5H5P4;B2R8B5;Q96D37;P15498	.;.;.;VAV_HUMAN	E	171;106	ENSP00000302269:D171E;ENSP00000443242:D106E	ENSP00000302269:D171E	D	+	3	2	VAV1	6773295	0.000000	0.05858	0.742000	0.31022	0.944000	0.59088	-4.425000	0.00236	-0.640000	0.05495	-0.244000	0.11960	GAC		0.662	VAV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458475.1			4	5	0	0	0	1	0	4	5					G	6822295	C	G	6822295	3	3	306	1	0	0	0	0	1	0	0	0	17128	535	19	5	531	5	VAV1	19	6822295	Missense_Mutation	SNP	C	TCGA-KK-A59X-01A-11D-A29Q-08	6317538	6822295	52306688	52	15711											
CNN1	1264	broad.mit.edu	37	chr19	11649778	11649778	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttcaaccgaggccctgcctaCgggctgtcagccgaggttaa	8	8	12	13	3	2	0	2	0	0	0	2	2	2	0	4	3	4	2	4	3	3	3	rs139463864	byFrequency	TCGA-KK-A59X-01A-11D-A29Q-08	TCGA-KK-A59X-11A-21D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f555699-002c-43d7-b5ef-22deebbae2a5	2e17d22b-df41-4ea2-afd3-edce529c9a20	g.chr19:11649778C>T	ENST00000252456.2	+	1	247	c.36C>T	c.(34-36)taC>taT	p.Y12Y	CNN1_ENST00000592923.1_5'UTR|CNN1_ENST00000544952.1_5'Flank|CNN1_ENST00000535659.2_5'UTR|CNN1_ENST00000588468.1_3'UTR	NM_001299.4	NP_001290.2	P51911	CNN1_HUMAN	calponin 1, basic, smooth muscle	12					actomyosin structure organization (GO:0031032)|regulation of smooth muscle contraction (GO:0006940)	cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)				breast(1)|endometrium(2)|large_intestine(4)|lung(2)	9						GCCCTGCCTACGGGCTGTCAG	0.672													C|||	2	0.000399361	0.0015	0	5008	,	,		16592	0		0	False		,,,				2504	0					ENST00000252456.2																			0				breast(1)|endometrium(2)|large_intestine(4)|lung(2)	9						c.(34-36)taC>taT		calponin 1, basic, smooth muscle		C		11,4395	17.9+/-39.9	0,11,2192	28	27	27		36	-2.5	1	19	dbSNP_134	27	0,8600		0,0,4300	no	coding-synonymous	CNN1	NM_001299.4		0,11,6492	TT,TC,CC		0.0,0.2497,0.0846		12/298	11649778	11,12995	2203	4300	6503	SO:0001819	synonymous_variant	1264				actomyosin structure organization|regulation of smooth muscle contraction	cytoskeleton	actin binding|calmodulin binding	g.chr19:11649778C>T	U37019	CCDS12263.1	19p13.2-p13.1	2008-07-16				ENSG00000130176			2155	protein-coding gene	gene with protein product		600806				8526917, 9332369	Standard	XM_005259741		Approved	SMCC, Sm-Calp	uc002msc.1	P51911		ENST00000252456.2:c.36C>T	19.37:g.11649778C>T						CNN1_ENST00000588468.1_3'UTR|CNN1_ENST00000535659.2_5'UTR|CNN1_ENST00000592923.1_5'UTR	p.Y12Y	NM_001299.4	NP_001290.2	P51911	CNN1_HUMAN			1	247	+			12					B2R868|B4DUX6|O00638|Q15416|Q8IY93|Q99438	Silent	SNP	ENST00000252456.2	37	c.36C>T	CCDS12263.1																																																																																				0.672	CNN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458854.1	NM_001299		26	40	0	0	0	1	0	26	40					T	11649778	C	T	11649778	2	4	306	1	0	0	0	0	0	0	0	1	3609	547	19	1		1	CNN1	19	11649778	Silent	SNP	C	TCGA-KK-A59X-01A-11D-A29Q-08	4827483	11649778	47479205	53	15712											
CEACAM16	388551	broad.mit.edu	37	chr19	45207372	45207372	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gcgccttatgtgcagcagccCcagccccaccgccgaggtcc	6	5	11	19	3	0	0	0	0	0	0	1	1	1	0	8	1	4	2	8	1	1	1			TCGA-KK-A59X-01A-11D-A29Q-08	TCGA-KK-A59X-11A-21D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f555699-002c-43d7-b5ef-22deebbae2a5	2e17d22b-df41-4ea2-afd3-edce529c9a20	g.chr19:45207372C>G	ENST00000405314.2	+	3	564	c.467C>G	c.(466-468)cCc>cGc	p.P156R	CTB-171A8.1_ENST00000590796.1_RNA|CEACAM16_ENST00000587331.1_Missense_Mutation_p.P156R			Q2WEN9	CEA16_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 16	156	Ig-like C2-type 1.				sensory perception of sound (GO:0007605)	extracellular region (GO:0005576)|stereocilium bundle tip (GO:0032426)				endometrium(3)|large_intestine(2)|lung(3)|ovary(1)	9	Lung NSC(12;0.000698)|all_lung(12;0.002)	Prostate(69;0.0376)|Ovarian(192;0.231)				TGCAGCAGCCCCAGCCCCACC	0.687																																						ENST00000587331.1																			0				endometrium(3)|large_intestine(2)|lung(3)|ovary(1)	9						c.(466-468)cCc>cGc		carcinoembryonic antigen-related cell adhesion molecule 16							13	17	16					19																	45207372		1990	4142	6132	SO:0001583	missense	388551							g.chr19:45207372C>G		CCDS54278.1	19q13.31	2014-01-27			ENSG00000213892	ENSG00000213892		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	31948	protein-coding gene	gene with protein product		614591				21368133	Standard	NM_001039213		Approved	DFNA4B	uc010xxd.2	Q2WEN9	OTTHUMG00000151519	ENST00000405314.2:c.467C>G	19.37:g.45207372C>G	ENSP00000385576:p.Pro156Arg					CEACAM16_ENST00000405314.2_Missense_Mutation_p.P156R|CTB-171A8.1_ENST00000590796.1_RNA	p.P156R	NM_001039213.2	NP_001034302.2	A7LI12	A7LI12_HUMAN			4	682	+	Lung NSC(12;0.000698)|all_lung(12;0.002)	Prostate(69;0.0376)|Ovarian(192;0.231)	156					A7LI12	Missense_Mutation	SNP	ENST00000405314.2	37	c.467C>G	CCDS54278.1	.	.	.	.	.	.	.	.	.	.	C	13.05	2.120461	0.37436	.	.	ENSG00000213892	ENST00000396750;ENST00000405314	T	0.13307	2.6	5.64	4.61	0.57282	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.31636	U	0.007306	T	0.19446	0.0467	L	0.41415	1.275	0.33057	D	0.533591	P	0.52692	0.955	P	0.54759	0.76	T	0.15780	-1.0425	10	0.30078	T	0.28	-32.5528	10.5959	0.45338	0.0:0.9112:0.0:0.0888	.	215	Q2WEN9	CEA16_HUMAN	R	221;156	ENSP00000385576:P156R	ENSP00000379974:P221R	P	+	2	0	CEACAM16	49899212	0.990000	0.36364	0.985000	0.45067	0.066000	0.16364	2.446000	0.44908	1.520000	0.48965	0.561000	0.74099	CCC		0.687	CEACAM16-201	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding		XM_371177		7	16	0	0	0	1	0	7	16					G	45207372	C	G	45207372	3	3	306	1	0	0	0	0	1	0	0	0	3188	623	22	5	477	5	CEACAM16	19	45207372	Missense_Mutation	SNP	C	TCGA-KK-A59X-01A-11D-A29Q-08	33557594	45207372	13921611	54	15713											
OPA3	7408	broad.mit.edu	37	chr19	46032604	46032604	+	IGR	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gatgaagatgatgccctcgcCcagcagctccgcgcccagct	8	6	11	16	3	0	3	0	2	0	1	2	4	1	3	4	0	4	3	4	0	1	0			TCGA-KK-A59X-01A-11D-A29Q-08	TCGA-KK-A59X-11A-21D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f555699-002c-43d7-b5ef-22deebbae2a5	2e17d22b-df41-4ea2-afd3-edce529c9a20	g.chr19:46032604C>A	ENST00000245932.6	+	0	2305				OPA3_ENST00000323060.3_Missense_Mutation_p.G85C	NM_003370.3	NP_003361.1	P50552	VASP_HUMAN	vasodilator-stimulated phosphoprotein						actin polymerization or depolymerization (GO:0008154)|axon guidance (GO:0007411)|cell junction assembly (GO:0034329)|neural tube closure (GO:0001843)|positive regulation of actin filament polymerization (GO:0030838)|protein homotetramerization (GO:0051289)|T cell receptor signaling pathway (GO:0050852)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	profilin binding (GO:0005522)			endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|skin(2)	18		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0145)|GBM - Glioblastoma multiforme(486;0.154)		ATGCCCTCGCCCAGCAGCTCC	0.627																																						ENST00000323060.3																			0				cervix(1)|large_intestine(1)|lung(2)	4						c.(253-255)Ggc>Tgc		optic atrophy 3 (autosomal recessive, with chorea and spastic paraplegia)							67	70	69					19																	46032604		2202	4300	6502	SO:0001628	intergenic_variant	80207				response to stimulus|visual perception	mitochondrion		g.chr19:46032604C>A		CCDS33051.1	19q13.32	2012-02-22			ENSG00000125753	ENSG00000125753			12652	protein-coding gene	gene with protein product		601703				8812448	Standard	XM_005259199		Approved		uc002pcg.3	P50552			19.37:g.46032604C>A							p.G85C	NM_001017989.2	NP_001017989.2	Q9H6K4	OPA3_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00778)|GBM - Glioblastoma multiforme(486;0.0976)|Epithelial(262;0.242)	2	330	-		Ovarian(192;0.051)|all_neural(266;0.112)	85					B2RBT9|Q6PIZ1|Q93035	Missense_Mutation	SNP	ENST00000245932.6	37	c.253G>T	CCDS33051.1	.	.	.	.	.	.	.	.	.	.	C	18.21	3.572999	0.65765	.	.	ENSG00000125741	ENST00000323060	D	0.89617	-2.54	3.67	3.67	0.42095	.	0.000000	0.85682	D	0.000000	D	0.93848	0.8032	.	.	.	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.94428	0.7647	9	0.72032	D	0.01	-22.5116	13.2344	0.59961	0.0:1.0:0.0:0.0	.	85	Q9H6K4-2	.	C	85	ENSP00000319817:G85C	ENSP00000319817:G85C	G	-	1	0	OPA3	50724444	1.000000	0.71417	1.000000	0.80357	0.354000	0.29330	6.718000	0.74713	2.047000	0.60756	0.561000	0.74099	GGC		0.627	VASP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459589.1			111	118	1	0	9.53466e-49	1	1.04881e-48	111	118					A	46032604	C	A	46032604	1	1	306	0	1	0	0	0	0	0	0	0	10872	623	22	5		5	OPA3	19	46032604	IGR	SNP	C	TCGA-KK-A59X-01A-11D-A29Q-08	825232	46032604	13096379	55	15714											
RUVBL2	10856	broad.mit.edu	37	chr19	49517861	49517861	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aagcagatcctccgcatccgGtgcgggcaggaccaggccgt	8	5	14	14	4	0	1	0	0	0	1	3	2	3	2	5	4	2	3	5	4	1	0			TCGA-KK-A59X-01A-11D-A29Q-08	TCGA-KK-A59X-11A-21D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f555699-002c-43d7-b5ef-22deebbae2a5	2e17d22b-df41-4ea2-afd3-edce529c9a20	g.chr19:49517861G>T	ENST00000595090.1	+	12	1585		c.e12+1		RUVBL2_ENST00000601968.1_Splice_Site|RUVBL2_ENST00000413176.2_Splice_Site	NM_006666.1	NP_006657.1	Q9Y230	RUVB2_HUMAN	RuvB-like AAA ATPase 2						ATP catabolic process (GO:0006200)|cellular response to estradiol stimulus (GO:0071392)|cellular response to UV (GO:0034644)|chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|establishment of protein localization to chromatin (GO:0071169)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|negative regulation of estrogen receptor binding (GO:0071899)|positive regulation of histone acetylation (GO:0035066)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein folding (GO:0006457)|regulation of growth (GO:0040008)|transcription, DNA-templated (GO:0006351)|transcriptional activation by promoter-enhancer looping (GO:0071733)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Ino80 complex (GO:0031011)|intracellular (GO:0005622)|membrane (GO:0016020)|MLL1 complex (GO:0071339)|NuA4 histone acetyltransferase complex (GO:0035267)|nuclear euchromatin (GO:0005719)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|ATP-dependent 5'-3' DNA helicase activity (GO:0043141)|ATP-dependent DNA helicase activity (GO:0004003)|chromatin DNA binding (GO:0031490)|damaged DNA binding (GO:0003684)|DNA helicase activity (GO:0003678)|identical protein binding (GO:0042802)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|unfolded protein binding (GO:0051082)			large_intestine(1)|upper_aerodigestive_tract(1)	2		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		all cancers(93;0.000449)|OV - Ovarian serous cystadenocarcinoma(262;0.000555)|GBM - Glioblastoma multiforme(486;0.00585)|Epithelial(262;0.047)		TCCGCATCCGGTGCGGGCAGG	0.632																																						ENST00000413176.2																			0				large_intestine(1)|upper_aerodigestive_tract(1)	2						c.e12+1		RuvB-like AAA ATPase 2							47	52	51					19																	49517861		2089	4216	6305	SO:0001630	splice_region_variant	10856				cellular response to UV|DNA recombination|DNA repair|histone H2A acetylation|histone H4 acetylation|protein folding|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|Ino80 complex|membrane|MLL1 complex|NuA4 histone acetyltransferase complex|nuclear matrix	ATP binding|ATP-dependent DNA helicase activity|damaged DNA binding|identical protein binding|unfolded protein binding	g.chr19:49517861G>T	AF155138	CCDS42588.1	19q13.3	2013-09-12	2013-09-12					"INO80 complex subunits", "ATPases / AAA-type"	10475	protein-coding gene	gene with protein product	"reptin", "INO80 complex subunit J"	604788	"RuvB (E coli homolog)-like 2", "RuvB-like 2 (E. coli)"			10428817, 10998447	Standard	XM_005258426		Approved	RVB2, TIP48, TIP49b, Reptin52, ECP51, TIH2, INO80J, Rvb2	uc002plr.1	Q9Y230		ENST00000595090.1:c.1121+1G>T	19.37:g.49517861G>T						RUVBL2_ENST00000601968.1_Splice_Site|RUVBL2_ENST00000595090.1_Splice_Site				Q9Y230	RUVB2_HUMAN		all cancers(93;0.000449)|OV - Ovarian serous cystadenocarcinoma(262;0.000555)|GBM - Glioblastoma multiforme(486;0.00585)|Epithelial(262;0.047)	12	2134	+		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)						B3KQ59|E7ETE5|Q6FIB9|Q6PK27|Q9Y361	Splice_Site	SNP	ENST00000595090.1	37		CCDS42588.1	.	.	.	.	.	.	.	.	.	.	G	26.6	4.750727	0.89753	.	.	ENSG00000183207	ENST00000221413;ENST00000413176	.	.	.	5.19	5.19	0.71726	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.5784	0.84707	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	RUVBL2	54209673	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.927000	0.75840	2.595000	0.87683	0.561000	0.74099	.		0.632	RUVBL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466235.1		Intron	37	67	1	0	1.67305e-13	1	1.76472e-13	37	67					T	49517861	G	T	49517861	5	4	306	1	0	0	0	0	0	0	1	0	13753	1275	44	5	1168	5	RUVBL2	19	49517861	Splice_Site	SNP	G	TCGA-KK-A59X-01A-11D-A29Q-08	3485257	49517861	9611122	56	15715											
MYBPC2	4606	broad.mit.edu	37	chr19	50958485	50958485	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggcatcctctatgagatgcGtgtcttcgccgtcaatgcta	7	12	11	11	3	3	1	1	1	2	1	5	2	4	1	2	1	2	2	2	1	3	3	rs368536456		TCGA-KK-A59X-01A-11D-A29Q-08	TCGA-KK-A59X-11A-21D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f555699-002c-43d7-b5ef-22deebbae2a5	2e17d22b-df41-4ea2-afd3-edce529c9a20	g.chr19:50958485G>A	ENST00000357701.5	+	19	2186	c.2135G>A	c.(2134-2136)cGt>cAt	p.R712H		NM_004533.3	NP_004524.3	Q14324	MYPC2_HUMAN	myosin binding protein C, fast type	712	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|muscle filament sliding (GO:0030049)	cytosol (GO:0005829)|myosin filament (GO:0032982)	structural constituent of muscle (GO:0008307)			breast(1)	1		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.0079)|GBM - Glioblastoma multiforme(134;0.0144)		TATGAGATGCGTGTCTTCGCC	0.502																																						ENST00000357701.5																			0				breast(1)	1						c.(2134-2136)cGt>cAt		myosin binding protein C, fast type		G	HIS/ARG	0,4076		0,0,2038	143	143	143		2135	4.4	1	19		143	1,8365		0,1,4182	no	missense	MYBPC2	NM_004533.3	29	0,1,6220	AA,AG,GG		0.012,0.0,0.0080	probably-damaging	712/1142	50958485	1,12441	2038	4183	6221	SO:0001583	missense	4606				cell adhesion|muscle filament sliding	cytosol|myosin filament	actin binding|structural constituent of muscle	g.chr19:50958485G>A		CCDS46152.1	19q13.33	2013-02-11	2001-11-28		ENSG00000086967	ENSG00000086967		"Myosin binding proteins", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	7550	protein-coding gene	gene with protein product	"fast-type muscle myosin-binding-protein C"	160793	"myosin-binding protein C, fast-type"			8375400	Standard	NM_004533		Approved	MYBPCF, MYBPC, MGC163408	uc002psf.2	Q14324		ENST00000357701.5:c.2135G>A	19.37:g.50958485G>A	ENSP00000350332:p.Arg712His						p.R712H	NM_004533.3	NP_004524.3	Q14324	MYPC2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0079)|GBM - Glioblastoma multiforme(134;0.0144)	19	2186	+		all_neural(266;0.057)	712			Fibronectin type-III 1.		A1L4G9	Missense_Mutation	SNP	ENST00000357701.5	37	c.2135G>A	CCDS46152.1	.	.	.	.	.	.	.	.	.	.	g	18.51	3.640633	0.67244	0.0	1.2E-4	ENSG00000086967	ENST00000357701	T	0.60920	0.15	4.39	4.39	0.52855	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.233245	0.17199	U	0.183206	D	0.86045	0.5839	H	0.99090	4.425	0.44395	D	0.9973	D	0.89917	1.0	D	0.74023	0.982	D	0.91616	0.5307	10	0.66056	D	0.02	.	16.0945	0.81110	0.0:0.0:1.0:0.0	.	712	Q14324	MYPC2_HUMAN	H	712	ENSP00000350332:R712H	ENSP00000350332:R712H	R	+	2	0	MYBPC2	55650297	1.000000	0.71417	0.986000	0.45419	0.284000	0.27059	8.929000	0.92859	2.181000	0.69327	0.461000	0.40582	CGT		0.502	MYBPC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464751.1	NM_004533		66	110	0	0	0	1	0	66	110					A	50958485	G	A	50958485	3	1	306	1	0	0	0	0	1	0	0	0	10012	1145	40	1	2209	1	MYBPC2	19	50958485	Missense_Mutation	SNP	G	TCGA-KK-A59X-01A-11D-A29Q-08	1440624	50958485	8170498	57	15716											
KLK3	354	broad.mit.edu	37	chr19	51359573	51359573	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccaaccctggcaggtgcttGtggcctctcgtggcagggca	5	8	14	14	1	1	0	0	0	1	0	2	0	1	0	3	5	2	4	3	5	1	1			TCGA-KK-A59X-01A-11D-A29Q-08	TCGA-KK-A59X-11A-21D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f555699-002c-43d7-b5ef-22deebbae2a5	2e17d22b-df41-4ea2-afd3-edce529c9a20	g.chr19:51359573G>C	ENST00000326003.2	+	2	165	c.124G>C	c.(124-126)Gtg>Ctg	p.V42L	KLK3_ENST00000593997.1_Missense_Mutation_p.V42L|KLK3_ENST00000595952.1_Missense_Mutation_p.V42L|KLK3_ENST00000360617.3_Missense_Mutation_p.V42L|KLK3_ENST00000597483.1_Missense_Mutation_p.V42L	NM_001030047.1|NM_001030048.1|NM_001648.2	NP_001025218.1|NP_001025219.1|NP_001639.1	P07288	KLK3_HUMAN	kallikrein-related peptidase 3	42	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				cellular protein metabolic process (GO:0044267)|negative regulation of angiogenesis (GO:0016525)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			breast(1)|cervix(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00763)|GBM - Glioblastoma multiforme(134;0.0144)		GCAGGTGCTTGTGGCCTCTCG	0.642																																					Colon(185;1767 2023 13025 30120 37630)	ENST00000360617.3																			0				breast(1)|cervix(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						c.(124-126)Gtg>Ctg		kallikrein-related peptidase 3							118	111	113					19																	51359573		2203	4300	6503	SO:0001583	missense	354				negative regulation of angiogenesis|proteolysis	extracellular region	serine-type endopeptidase activity	g.chr19:51359573G>C	X14810	CCDS12807.1, CCDS33083.1, CCDS46155.1	19q13.41	2012-10-02	2006-10-27			ENSG00000142515		"Kallikreins"	6364	protein-coding gene	gene with protein product		176820	"kallikrein 3, (prostate specific antigen)"	APS		2456523, 2436946, 16800724, 16800723	Standard	NM_001648		Approved	PSA	uc021uyi.1	P07288		ENST00000326003.2:c.124G>C	19.37:g.51359573G>C	ENSP00000314151:p.Val42Leu					KLK3_ENST00000597483.1_Missense_Mutation_p.V42L|KLK3_ENST00000593997.1_Missense_Mutation_p.V42L|KLK3_ENST00000595952.1_Missense_Mutation_p.V42L|KLK3_ENST00000326003.2_Missense_Mutation_p.V42L	p.V42L			P07288	KLK3_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00763)|GBM - Glioblastoma multiforme(134;0.0144)	2	124	+		all_neural(266;0.057)	42			Peptidase S1.		C9JXH3|G3V0H4|G3XAE3|Q15096|Q16272|Q86TG8|Q8IXI4	Missense_Mutation	SNP	ENST00000326003.2	37	c.124G>C	CCDS12807.1	.	.	.	.	.	.	.	.	.	.	G	0.080	-1.185407	0.01620	.	.	ENSG00000142515	ENST00000326003;ENST00000422986;ENST00000360617;ENST00000435152;ENST00000326052	D;D;D	0.86769	-2.17;-2.17;-2.17	2.62	-1.58	0.08479	.	1.996360	0.03567	N	0.228035	T	0.55226	0.1907	N	0.00223	-1.815	0.09310	N	1	B;B;B;B	0.32620	0.378;0.186;0.069;0.012	B;B;B;B	0.37550	0.253;0.135;0.109;0.009	T	0.64202	-0.6463	10	0.02654	T	1	.	1.7362	0.02942	0.1372:0.3766:0.2955:0.1907	.	42;42;42;42	Q8NCW4;G3XAE3;G3V0H4;C9JXH3	.;.;.;.	L	42	ENSP00000314151:V42L;ENSP00000393628:V42L;ENSP00000353829:V42L	ENSP00000314151:V42L	V	+	1	0	KLK3	56051385	0.000000	0.05858	0.001000	0.08648	0.012000	0.07955	-1.269000	0.02834	0.008000	0.14787	0.423000	0.28283	GTG		0.642	KLK3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464067.1	NM_145864		7	224	0	0	0	1	0	7	224					C	51359573	G	C	51359573	3	2	306	1	0	0	0	0	1	0	0	0	8405	1377	48	5	130	5	KLK3	19	51359573	Missense_Mutation	SNP	G	TCGA-KK-A59X-01A-11D-A29Q-08	401088	51359573	7769410	58	15717											
SIGLEC1	6614	broad.mit.edu	37	chr20	3686562	3686562	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ggtgacagagcgagcagggtCctggccttgccactgcagtc	7	7	15	12	1	0	2	0	1	0	1	2	3	1	2	3	3	4	2	3	3	0	1			TCGA-KK-A59X-01A-11D-A29Q-08	TCGA-KK-A59X-11A-21D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f555699-002c-43d7-b5ef-22deebbae2a5	2e17d22b-df41-4ea2-afd3-edce529c9a20	g.chr20:3686562C>T	ENST00000344754.4	-	3	534	c.535G>A	c.(535-537)Gac>Aac	p.D179N	SIGLEC1_ENST00000202578.4_Missense_Mutation_p.D179N	NM_023068.3	NP_075556.1	Q9BZZ2	SN_HUMAN	sialic acid binding Ig-like lectin 1, sialoadhesin	179	Ig-like C2-type 1.				cell-matrix adhesion (GO:0007160)|endocytosis (GO:0006897)|inflammatory response (GO:0006954)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of T cell apoptotic process (GO:0070234)|single organismal cell-cell adhesion (GO:0016337)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)	70						CGAGCAGGGTCCTGGCCTTGC	0.632																																						ENST00000344754.4																			0				NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)	70						c.(535-537)Gac>Aac		sialic acid binding Ig-like lectin 1, sialoadhesin							106	97	100					20																	3686562		2203	4300	6503	SO:0001583	missense	6614				cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response	extracellular region|integral to membrane|plasma membrane	sugar binding	g.chr20:3686562C>T	AF230073	CCDS13060.1	20p13	2013-01-29	2006-01-19	2006-01-19	ENSG00000088827	ENSG00000088827		"CD molecules", "Sialic acid binding Ig-like lectins", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	11127	protein-coding gene	gene with protein product		600751	"sialoadhesin"	SN		8530048	Standard	XM_006723610		Approved	SIGLEC-1, CD169, FLJ00051, FLJ00055, FLJ00073, FLJ32150, dJ1009E24.1, sialoadhesin	uc002wja.3	Q9BZZ2	OTTHUMG00000031757	ENST00000344754.4:c.535G>A	20.37:g.3686562C>T	ENSP00000341141:p.Asp179Asn					SIGLEC1_ENST00000202578.4_Missense_Mutation_p.D179N	p.D179N	NM_023068.3	NP_075556.1	Q9BZZ2	SN_HUMAN			3	534	-			179			Ig-like C2-type 1.		Q96DL4|Q9GZS5|Q9H1H6|Q9H1H7|Q9H7L7	Missense_Mutation	SNP	ENST00000344754.4	37	c.535G>A	CCDS13060.1	.	.	.	.	.	.	.	.	.	.	C	13.58	2.280754	0.40294	.	.	ENSG00000088827	ENST00000344754;ENST00000202578	T;T	0.75154	-0.91;-0.91	4.68	4.68	0.58851	CD80-like, immunoglobulin C2-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.42548	D	0.000682	T	0.69269	0.3092	M	0.70595	2.14	0.33561	D	0.597418	B;B;B	0.30482	0.198;0.281;0.102	B;B;B	0.34931	0.081;0.192;0.054	T	0.67019	-0.5776	10	0.05959	T	0.93	.	10.9073	0.47088	0.0:0.8099:0.1901:0.0	.	179;179;179	Q9BZZ2-2;Q9BZZ2;Q9BZZ2-3	.;SN_HUMAN;.	N	179	ENSP00000341141:D179N;ENSP00000202578:D179N	ENSP00000202578:D179N	D	-	1	0	SIGLEC1	3634562	0.997000	0.39634	1.000000	0.80357	0.591000	0.36615	0.386000	0.20702	2.435000	0.82474	0.462000	0.41574	GAC		0.632	SIGLEC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077761.2	NM_023068		77	117	0	0	0	1	0	77	117					T	3686562	C	T	3686562	3	4	306	1	0	0	0	0	1	0	0	0	14305	855	30	3	4670	3	SIGLEC1	20	3686562	Missense_Mutation	SNP	C	TCGA-KK-A59X-01A-11D-A29Q-08		3686562	59338958	59	15718											
MMP9	4318	broad.mit.edu	37	chr20	44639788	44639788	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctcctcctgcagtggttcCaactcggtttggaaacgcag	7	10	10	14	2	0	0	0	0	0	0	4	1	3	1	4	3	3	4	4	3	2	2	rs200848405		TCGA-KK-A59X-01A-11D-A29Q-08	TCGA-KK-A59X-11A-21D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f555699-002c-43d7-b5ef-22deebbae2a5	2e17d22b-df41-4ea2-afd3-edce529c9a20	g.chr20:44639788C>A	ENST00000372330.3	+	5	675	c.656C>A	c.(655-657)cCa>cAa	p.P219Q	RP11-465L10.10_ENST00000535913.1_RNA	NM_004994.2	NP_004985.2	P14780	MMP9_HUMAN	matrix metallopeptidase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase)	219					collagen catabolic process (GO:0030574)|embryo implantation (GO:0007566)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|leukocyte migration (GO:0050900)|macrophage differentiation (GO:0030225)|negative regulation of cation channel activity (GO:2001258)|ossification (GO:0001503)|positive regulation of apoptotic process (GO:0043065)|positive regulation of keratinocyte migration (GO:0051549)|positive regulation of receptor binding (GO:1900122)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	collagen binding (GO:0005518)|identical protein binding (GO:0042802)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(2)|endometrium(4)|large_intestine(14)|liver(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(3)	46		Myeloproliferative disorder(115;0.0122)			Captopril(DB01197)|Glucosamine(DB01296)|Marimastat(DB00786)|Minocycline(DB01017)	GCAGTGGTTCCAACTCGGTTT	0.637																																						ENST00000372330.3																			0				breast(2)|endometrium(4)|large_intestine(14)|liver(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(3)	46						c.(655-657)cCa>cAa		matrix metallopeptidase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase)	Glucosamine(DB01296)|Marimastat(DB00786)|Minocycline(DB01017)|Simvastatin(DB00641)						116	133	127					20																	44639788		2203	4300	6503	SO:0001583	missense	4318				collagen catabolic process|macrophage differentiation|positive regulation of keratinocyte migration|proteolysis	extracellular space|proteinaceous extracellular matrix	collagen binding|metalloendopeptidase activity|zinc ion binding	g.chr20:44639788C>A		CCDS13390.1	20q12-q13	2008-01-07	2005-08-08		ENSG00000100985	ENSG00000100985	3.4.24.35		7176	protein-coding gene	gene with protein product		120361	"matrix metalloproteinase 9 (gelatinase B, 92kD gelatinase, 92kD type IV collagenase)", "matrix metalloproteinase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase)"	CLG4B		2158484	Standard	NM_004994		Approved		uc002xqz.3	P14780	OTTHUMG00000033044	ENST00000372330.3:c.656C>A	20.37:g.44639788C>A	ENSP00000361405:p.Pro219Gln						p.P219Q	NM_004994.2	NP_004985.2	P14780	MMP9_HUMAN			5	675	+		Myeloproliferative disorder(115;0.0122)	219					B2R7V9|Q3LR70|Q8N725|Q9H4Z1|Q9UCJ9|Q9UCL1|Q9UDK2	Missense_Mutation	SNP	ENST00000372330.3	37	c.656C>A	CCDS13390.1	.	.	.	.	.	.	.	.	.	.	C	13.77	2.336489	0.41398	.	.	ENSG00000100985	ENST00000372330	T	0.09073	3.02	4.56	-0.0126	0.13988	Peptidase M10, metallopeptidase (1);Fibronectin, type II, collagen-binding (1);Kringle-like fold (1);Peptidase, metallopeptidase (1);	0.384569	0.30347	N	0.009822	T	0.04452	0.0122	N	0.16478	0.41	0.24623	N	0.993663	B	0.30584	0.286	B	0.28465	0.09	T	0.36261	-0.9755	10	0.46703	T	0.11	.	7.3424	0.26644	0.6234:0.287:0.0:0.0896	.	219	P14780	MMP9_HUMAN	Q	219	ENSP00000361405:P219Q	ENSP00000361405:P219Q	P	+	2	0	MMP9	44073195	0.123000	0.22298	0.012000	0.15200	0.012000	0.07955	2.295000	0.43576	0.226000	0.20979	-0.188000	0.12872	CCA		0.637	MMP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080337.1			176	308	1	0	6.2965e-74	1	7.02653e-74	176	308					A	44639788	C	A	44639788	3	1	306	1	0	0	0	0	1	0	0	0	9669	594	21	5	674	5	MMP9	20	44639788	Missense_Mutation	SNP	C	TCGA-KK-A59X-01A-11D-A29Q-08	40953226	44639788	18385732	60	15719											
DDX17	10521	broad.mit.edu	37	chr22	38883946	38883946	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gttttggattgatagcctgaTtggcctcttccagcactttg	6	16	10	9	0	1	2	0	2	1	0	2	3	2	3	3	2	2	2	3	2	1	7	rs546476409		TCGA-KK-A59X-01A-11D-A29Q-08	TCGA-KK-A59X-11A-21D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f555699-002c-43d7-b5ef-22deebbae2a5	2e17d22b-df41-4ea2-afd3-edce529c9a20	g.chr22:38883946T>C	ENST00000396821.3	-	12	1721	c.1622A>G	c.(1621-1623)aAt>aGt	p.N541S	DDX17_ENST00000444597.1_5'UTR|DDX17_ENST00000381633.3_Missense_Mutation_p.N464S|DDX17_ENST00000432525.1_5'Flank	NM_001098504.1|NM_006386.4	NP_001091974|NP_006377.2	Q92841	DDX17_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 17	541	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				ATP catabolic process (GO:0006200)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of skeletal muscle cell differentiation (GO:2001014)|RNA processing (GO:0006396)|transcription, DNA-templated (GO:0006351)	membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|estrogen receptor binding (GO:0030331)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|RNA helicase activity (GO:0003724)|RNA-dependent ATPase activity (GO:0008186)|transcription coactivator activity (GO:0003713)			breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(6)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	25	Melanoma(58;0.0286)					GATAGCCTGATTGGCCTCTTC	0.547																																					Ovarian(55;1085 1454 6392 21425)	ENST00000396821.3																			0				breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(6)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	25						c.(1621-1623)aAt>aGt		DEAD (Asp-Glu-Ala-Asp) box helicase 17							148	128	135					22																	38883946		2203	4300	6503	SO:0001583	missense	10521				RNA processing	nucleus	ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity|RNA-dependent ATPase activity	g.chr22:38883946T>C	U59321	CCDS33646.1, CCDS46706.1	22q13.1	2012-02-23	2012-02-23		ENSG00000100201	ENSG00000100201		"DEAD-boxes"	2740	protein-coding gene	gene with protein product		608469	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 17 (72kD)", "DEAD (Asp-Glu-Ala-Asp) box polypeptide 17"			8871553, 17226766	Standard	NM_006386		Approved	P72	uc003avy.4	Q92841	OTTHUMG00000151136	ENST00000396821.3:c.1622A>G	22.37:g.38883946T>C	ENSP00000380033:p.Asn541Ser					DDX17_ENST00000444597.1_5'UTR|DDX17_ENST00000381633.3_Missense_Mutation_p.N464S	p.N541S	NM_001098504.1|NM_006386.4	NP_001091974.1|NP_006377.2	Q92841	DDX17_HUMAN			12	1721	-	Melanoma(58;0.0286)		462					B1AHM0|Q69YT1|Q6ICD6	Missense_Mutation	SNP	ENST00000396821.3	37	c.1622A>G	CCDS46706.1	.	.	.	.	.	.	.	.	.	.	T	14.46	2.543080	0.45280	.	.	ENSG00000100201	ENST00000396821;ENST00000381633;ENST00000403230;ENST00000404499	T;T;T	0.29917	1.56;1.6;1.55	5.46	5.46	0.80206	.	0.088085	0.85682	D	0.000000	T	0.22936	0.0554	N	0.21508	0.67	0.80722	D	1	B;B	0.33379	0.287;0.41	B;B	0.30401	0.054;0.115	T	0.04467	-1.0949	10	0.46703	T	0.11	-21.8726	15.5289	0.75936	0.0:0.0:0.0:1.0	.	543;541	Q59F66;Q92841-4	.;.	S	541;464;541;543	ENSP00000380033:N541S;ENSP00000371046:N464S;ENSP00000385536:N541S	ENSP00000371046:N464S	N	-	2	0	DDX17	37213892	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.602000	0.61098	2.062000	0.61559	0.533000	0.62120	AAT		0.547	DDX17-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000321476.2	NM_030881		77	103	0	0	0	1	0	77	103					C	38883946	T	C	38883946	3	2	306	1	0	0	0	0	1	0	0	0	4344	1493	52	4	581	4	DDX17	22	38883946	Missense_Mutation	SNP	T	TCGA-KK-A59X-01A-11D-A29Q-08		38883946	12420620	61	15720											
BCOR	54880	broad.mit.edu	37	chrX	39933375	39933375	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	accgctgtcttccgggcatgCccgggcactggctgggcacc	4	7	14	16	3	1	0	0	0	1	0	2	0	2	0	4	4	1	5	4	4	0	1			TCGA-KK-A59X-01A-11D-A29Q-08	TCGA-KK-A59X-11A-21D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f555699-002c-43d7-b5ef-22deebbae2a5	2e17d22b-df41-4ea2-afd3-edce529c9a20	g.chrX:39933375C>T	ENST00000378444.4	-	4	1452	c.1224G>A	c.(1222-1224)ggG>ggA	p.G408G	BCOR_ENST00000342274.4_Silent_p.G408G|BCOR_ENST00000397354.3_Silent_p.G408G|BCOR_ENST00000378455.4_Silent_p.G408G	NM_001123385.1	NP_001116857.1	Q6W2J9	BCOR_HUMAN	BCL6 corepressor	408					heart development (GO:0007507)|histone H2A monoubiquitination (GO:0035518)|negative regulation of bone mineralization (GO:0030502)|negative regulation of histone H3-K36 methylation (GO:0000415)|negative regulation of histone H3-K4 methylation (GO:0051572)|negative regulation of tooth mineralization (GO:0070171)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|odontogenesis (GO:0042476)|palate development (GO:0060021)|specification of axis polarity (GO:0065001)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	heat shock protein binding (GO:0031072)|histone deacetylase binding (GO:0042826)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						TCCGGGCATGCCCGGGCACTG	0.582			"F, N, S, T"	RARA	"retinoblastoma, AML, APL(translocation)"		oculo-facio-cardio-dental genetic																															ENST00000342274.4				Rec	yes		X	Xp11.4	54880	"F, N, S, T"	BCL6 corepressor	yes	oculo-facio-cardio-dental genetic		RARA		"retinoblastoma, AML, APL(translocation)"		0				breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						c.(1222-1224)ggG>ggA		BCL6 corepressor							37	31	33					X																	39933375		2202	4299	6501	SO:0001819	synonymous_variant	54880				heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent	nucleus	heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding	g.chrX:39933375C>T	AF317391	CCDS14250.1, CCDS48092.1, CCDS48093.1	Xp11.4	2014-09-17	2010-06-10		ENSG00000183337	ENSG00000183337		"Ankyrin repeat domain containing"	20893	protein-coding gene	gene with protein product		300485	"BCL6 co-repressor"			10898795	Standard	NM_017745		Approved	FLJ20285, KIAA1575	uc004den.4	Q6W2J9	OTTHUMG00000024100	ENST00000378444.4:c.1224G>A	X.37:g.39933375C>T						BCOR_ENST00000378444.4_Silent_p.G408G|BCOR_ENST00000378455.4_Silent_p.G408G|BCOR_ENST00000397354.3_Silent_p.G408G	p.G408G	NM_001123383.1	NP_001116855.1	Q6W2J9	BCOR_HUMAN			4	1586	-			408					D3DWB3|D3DWB4|Q29RF6|Q6P4B6|Q7Z2K7|Q8TEB4|Q96DB3|Q9H232|Q9H233|Q9HCJ7|Q9NXF2	Silent	SNP	ENST00000378444.4	37	c.1224G>A	CCDS48093.1																																																																																				0.582	BCOR-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060666.2	NM_017745		3	29	0	0	0	1	0	3	29					T	39933375	C	T	39933375	2	4	306	1	0	0	0	0	0	0	0	1	1386	726	26	3		3	BCOR	23	39933375	Silent	SNP	C	TCGA-KK-A59X-01A-11D-A29Q-08		39933375	115337185	62	15721											
TCEAL3	85012	broad.mit.edu	37	chrX	102864068	102864068	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aagatgaagtagagcctgatGatgaaggaaagtcagacgag	17	6	14	4	1	1	7	1	4	0	3	1	9	1	8	1	1	1	1	1	1	5	1			TCGA-KK-A59X-01A-11D-A29Q-08	TCGA-KK-A59X-11A-21D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f555699-002c-43d7-b5ef-22deebbae2a5	2e17d22b-df41-4ea2-afd3-edce529c9a20	g.chrX:102864068G>A	ENST00000372628.1	+	3	434	c.76G>A	c.(76-78)Gat>Aat	p.D26N	TCEAL3_ENST00000243286.3_Missense_Mutation_p.D26N|TCEAL3_ENST00000477014.1_Intron|TCEAL3_ENST00000372627.5_Missense_Mutation_p.D26N			Q969E4	TCAL3_HUMAN	transcription elongation factor A (SII)-like 3	26	Glu-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)	16						agagcctgatgatgaaggaaa	0.483																																						ENST00000372628.1																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)	16						c.(76-78)Gat>Aat		transcription elongation factor A (SII)-like 3							114	91	99					X																	102864068		2202	4300	6502	SO:0001583	missense	85012				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chrX:102864068G>A	BC008703	CCDS14511.1	Xq22.2	2014-03-21			ENSG00000196507	ENSG00000196507			28247	protein-coding gene	gene with protein product						16221301	Standard	NM_032926		Approved	MGC15737, WEX8	uc004ekr.3	Q969E4	OTTHUMG00000022106	ENST00000372628.1:c.76G>A	X.37:g.102864068G>A	ENSP00000361711:p.Asp26Asn					TCEAL3_ENST00000477014.1_Intron|TCEAL3_ENST00000243286.3_Missense_Mutation_p.D26N|TCEAL3_ENST00000372627.5_Missense_Mutation_p.D26N	p.D26N			Q969E4	TCAL3_HUMAN			3	434	+			26			Glu-rich.		D3DXA4	Missense_Mutation	SNP	ENST00000372628.1	37	c.76G>A	CCDS14511.1	.	.	.	.	.	.	.	.	.	.	G	10.76	1.442288	0.25987	.	.	ENSG00000196507	ENST00000372628;ENST00000372627;ENST00000243286	T;T;T	0.30448	1.53;1.53;1.53	3.92	3.03	0.35002	.	0.182433	0.26808	N	0.022395	T	0.22936	0.0554	L	0.43923	1.385	0.26763	N	0.96996	B	0.20052	0.041	B	0.23419	0.046	T	0.13308	-1.0514	10	0.33141	T	0.24	.	6.0878	0.19976	0.1471:0.0:0.8529:0.0	.	26	Q969E4	TCAL3_HUMAN	N	26	ENSP00000361711:D26N;ENSP00000361710:D26N;ENSP00000243286:D26N	ENSP00000243286:D26N	D	+	1	0	TCEAL3	102750724	1.000000	0.71417	0.940000	0.37924	0.248000	0.25809	2.168000	0.42424	0.992000	0.38840	0.538000	0.68166	GAT		0.483	TCEAL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057737.1	NM_032926		32	6	0	0	0	1	0	32	6					A	102864068	G	A	102864068	3	1	306	1	0	0	0	0	1	0	0	0	15669	1290	45	3	78	3	TCEAL3	23	102864068	Missense_Mutation	SNP	G	TCGA-KK-A59X-01A-11D-A29Q-08	62930693	102864068	52406492	63	15722											
CLCNKB	1188	broad.mit.edu	37	chr1	16376374	16376374	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaatcttctttggcttcatcAggaacaataggttcagctcc	10	13	8	10	0	5	0	3	0	2	0	6	2	6	1	1	3	2	3	1	3	4	5			TCGA-KK-A59Y-01A-11D-A26M-08	TCGA-KK-A59Y-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f150d1e-e7b6-4c8b-a4bd-2b2d5c80b088	ddec5241-9e83-475b-80aa-fc72dd813f38	g.chr1:16376374A>T	ENST00000375679.4	+	10	1042	c.931A>T	c.(931-933)Agg>Tgg	p.R311W	CLCNKB_ENST00000375667.3_Missense_Mutation_p.R142W	NM_000085.4	NP_000076.2	P51801	CLCKB_HUMAN	chloride channel, voltage-sensitive Kb	311					excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|regulation of anion transport (GO:0044070)|transmembrane transport (GO:0055085)|transport (GO:0006810)	chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	adenyl nucleotide binding (GO:0030554)|metal ion binding (GO:0046872)|voltage-gated chloride channel activity (GO:0005247)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|skin(6)|stomach(2)|urinary_tract(1)	21		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)		TGGCTTCATCAGGAACAATAG	0.607																																						ENST00000375679.4																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|skin(6)|stomach(2)|urinary_tract(1)	21						c.(931-933)Agg>Tgg		chloride channel, voltage-sensitive Kb							164	152	156					1																	16376374		2203	4300	6503	SO:0001583	missense	1188							g.chr1:16376374A>T	AK098217	CCDS168.1, CCDS57974.1	1p36	2012-09-26	2012-02-23		ENSG00000184908	ENSG00000184908		"Ion channels / Chloride channels : Voltage-sensitive"	2027	protein-coding gene	gene with protein product		602023	"chloride channel Kb"				Standard	NM_000085		Approved	hClC-Kb		P51801	OTTHUMG00000009530	ENST00000375679.4:c.931A>T	1.37:g.16376374A>T	ENSP00000364831:p.Arg311Trp					CLCNKB_ENST00000375667.3_Missense_Mutation_p.R142W	p.R311W	NM_000085.4	NP_000076.2				UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)	10	1042	+		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)						B3KUY3|Q5T5Q7|Q5T5Q8	Missense_Mutation	SNP	ENST00000375679.4	37	c.931A>T	CCDS168.1	.	.	.	.	.	.	.	.	.	.	a	17.43	3.387434	0.61956	.	.	ENSG00000184908	ENST00000375679;ENST00000375667	D;D	0.95238	-3.65;-3.65	4.71	3.51	0.40186	Chloride channel, core (2);	0.414112	0.27486	N	0.019155	D	0.96858	0.8974	M	0.87038	2.855	0.09310	N	1	D;D	0.60575	0.988;0.971	D;P	0.64687	0.928;0.823	D	0.91482	0.5205	10	0.87932	D	0	.	11.9297	0.52839	0.8444:0.1556:0.0:0.0	.	142;311	Q5T5Q7;P51801	.;CLCKB_HUMAN	W	311;142	ENSP00000364831:R311W;ENSP00000364819:R142W	ENSP00000364819:R142W	R	+	1	2	CLCNKB	16248961	0.000000	0.05858	0.010000	0.14722	0.008000	0.06430	0.663000	0.25053	1.763000	0.52060	0.459000	0.35465	AGG		0.607	CLCNKB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026331.1	NM_000085		38	79	0	0	0	1	0	38	79					T	16376374	A	T	16376374	3	4	307	1	0	0	0	0	1	0	0	0	3470	179	7	5	1113	5	CLCNKB	1	16376374	Missense_Mutation	SNP	A	TCGA-KK-A59Y-01A-11D-A26M-08		16376374	232874247	1	15723											
C1orf50	79078	broad.mit.edu	37	chr1	43233015	43233015	+	Frame_Shift_Del	DEL	G	G	-																															gccgcgccggggcggaccgaGggggtccttgaaaggcaagg																										TCGA-KK-A59Y-01A-11D-A26M-08	TCGA-KK-A59Y-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f150d1e-e7b6-4c8b-a4bd-2b2d5c80b088	ddec5241-9e83-475b-80aa-fc72dd813f38	g.chr1:43233015delG	ENST00000372525.5	+	1	76	c.33delG	c.(31-33)gagfs	p.E11fs	C1orf50_ENST00000536543.1_5'UTR|LEPRE1_ENST00000236040.4_5'Flank|LEPRE1_ENST00000296388.5_5'Flank|LEPRE1_ENST00000397054.3_5'Flank	NM_024097.3	NP_077002.2	Q9BV19	CA050_HUMAN	chromosome 1 open reading frame 50	11										large_intestine(2)|ovary(1)|pancreas(1)	4	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				GGCGGACCGAGGGGGTCCTTG	0.701																																						ENST00000372525.5																			0				large_intestine(2)|ovary(1)|pancreas(1)	4						c.(31-33)gafs		chromosome 1 open reading frame 50							5	7	6					1																	43233015		2067	4109	6176	SO:0001589	frameshift_variant	79078							g.chr1:43233015delG	BC001711	CCDS473.1	1p34.2	2012-06-25			ENSG00000164008	ENSG00000164008			28795	protein-coding gene	gene with protein product						12477932	Standard	NM_024097		Approved	MGC955	uc001cia.4	Q9BV19	OTTHUMG00000007568	ENST00000372525.5:c.33delG	1.37:g.43233015delG	ENSP00000361603:p.Glu11fs					C1orf50_ENST00000536543.1_5'UTR	p.E11fs	NM_024097.3	NP_077002.2	Q9BV19	CA050_HUMAN			1	76	+	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)	11						Frame_Shift_Del	DEL	ENST00000372525.5	37	c.33delG	CCDS473.1																																																																																				0.701	C1orf50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000020001.2	NM_024097		2	4						2	4	---	---	---	---	-	43233015	G	-	43233015	7	5	307	1	0	1	0	1	0	0	0	0	2042	991	35	0	35	0	C1orf50	1	43233015	Frame_Shift_Del	DEL	G	TCGA-KK-A59Y-01A-11D-A26M-08	26856641	43233015	206017606	2	15724											
USH2A	7399	broad.mit.edu	37	chr1	216420426	216420426	+	Frame_Shift_Del	DEL	T	T	-																															cactgaagtcctttggcttcTtttttgcactcacactgccc																										TCGA-KK-A59Y-01A-11D-A26M-08	TCGA-KK-A59Y-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f150d1e-e7b6-4c8b-a4bd-2b2d5c80b088	ddec5241-9e83-475b-80aa-fc72dd813f38	g.chr1:216420426delT	ENST00000307340.3	-	13	2696	c.2310delA	c.(2308-2310)aaafs	p.K770fs	USH2A_ENST00000366943.2_Frame_Shift_Del_p.K770fs|USH2A_ENST00000366942.3_Frame_Shift_Del_p.K770fs	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	770	Laminin EGF-like 5. {ECO:0000255|PROSITE- ProRule:PRU00460}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		CTTTGGCTTCTTTTTTGCACT	0.473										HNSCC(13;0.011)																												ENST00000366943.2																			0				NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527						c.(2308-2310)aafs		Usher syndrome 2A (autosomal recessive, mild)							134	131	132					1																	216420426		2203	4300	6503	SO:0001589	frameshift_variant	7399				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	g.chr1:216420426delT	AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"Fibronectin type III domain containing"	12601	protein-coding gene	gene with protein product	"usherin"	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.2310delA	1.37:g.216420426delT	ENSP00000305941:p.Lys770fs	HNSCC(13;0.011)				USH2A_ENST00000307340.3_Frame_Shift_Del_p.K770fs|USH2A_ENST00000366942.3_Frame_Shift_Del_p.K770fs	p.K770fs			O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	13	2696	-			770			Laminin EGF-like 5.		Q5VVM9|Q6S362|Q9NS27	Frame_Shift_Del	DEL	ENST00000307340.3	37	c.2310delA	CCDS31025.1																																																																																				0.473	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		22	66						22	66	---	---	---	---	-	216420426	T	-	216420426	7	5	307	1	0	1	0	1	0	0	0	0	17033	1606	56	0	13552	0	USH2A	1	216420426	Frame_Shift_Del	DEL	T	TCGA-KK-A59Y-01A-11D-A26M-08	173187411	216420426	32830195	3	15725											
GALNTL2	117248	broad.mit.edu	37	chr3	16216929	16216929	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgccaccctttatctcactgCgggaggatcagctgctggtg	6	11	12	12	1	2	0	2	0	1	0	3	2	2	2	2	3	4	2	2	3	1	2	rs377515842		TCGA-KK-A59Y-01A-11D-A26M-08	TCGA-KK-A59Y-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f150d1e-e7b6-4c8b-a4bd-2b2d5c80b088	ddec5241-9e83-475b-80aa-fc72dd813f38	g.chr3:16216929C>T	ENST00000339732.5	+	1	774	c.271C>T	c.(271-273)Cgg>Tgg	p.R91W	GALNT15_ENST00000470031.1_3'UTR|GALNT15_ENST00000437509.1_Missense_Mutation_p.R91W	NM_054110.4	NP_473451.3	Q8N3T1	GLT15_HUMAN	polypeptide N-acetylgalactosaminyltransferase 15	91					cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|transport vesicle (GO:0030133)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)										TATCTCACTGCGGGAGGATCA	0.617																																						ENST00000339732.5																			0											c.(271-273)Cgg>Tgg		UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 15		C	TRP/ARG	0,4406		0,0,2203	52	54	53		271	2.3	1	3		53	1,8599	1.2+/-3.3	0,1,4299	no	missense	GALNTL2	NM_054110.4	101	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	91/640	16216929	1,13005	2203	4300	6503	SO:0001583	missense	117248							g.chr3:16216929C>T	AY358443	CCDS33711.1	3p25.1	2014-03-13	2014-03-13	2013-01-25	ENSG00000131386	ENSG00000131386	2.4.1.41	"Glycosyltransferase family 2 domain containing"	21531	protein-coding gene	gene with protein product	"polypeptide GalNAc transferase 15"	615131	"UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 2", "UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 15"	GALNTL2		12975309, 14702039, 15147861	Standard	NM_054110		Approved	GALNT7, pp-GalNAc-T15	uc003car.4	Q8N3T1	OTTHUMG00000156893	ENST00000339732.5:c.271C>T	3.37:g.16216929C>T	ENSP00000344260:p.Arg91Trp					GALNT15_ENST00000470031.1_3'UTR|GALNT15_ENST00000437509.1_Missense_Mutation_p.R91W	p.R91W	NM_054110.4	NP_473451.3					1	774	+								A6NMN1|B2R638|F1LIP6|Q86T60|Q96C46|Q96DJ5	Missense_Mutation	SNP	ENST00000339732.5	37	c.271C>T	CCDS33711.1	.	.	.	.	.	.	.	.	.	.	C	17.46	3.395251	0.62066	0.0	1.16E-4	ENSG00000131386	ENST00000339732;ENST00000437509	T;T	0.60040	0.45;0.22	4.29	2.31	0.28768	.	.	.	.	.	T	0.42223	0.1193	N	0.08118	0	0.25319	N	0.989133	D	0.67145	0.996	P	0.46885	0.53	T	0.35301	-0.9794	9	0.72032	D	0.01	.	11.8115	0.52185	0.4225:0.5775:0.0:0.0	.	91	Q8N3T1	GLTL2_HUMAN	W	91	ENSP00000344260:R91W;ENSP00000395873:R91W	ENSP00000344260:R91W	R	+	1	2	GALNTL2	16191933	0.680000	0.27605	0.993000	0.49108	0.979000	0.70002	0.029000	0.13666	0.941000	0.37499	0.442000	0.29010	CGG		0.617	GALNT15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346483.2	NM_054110		14	23	0	0	0	1	0	14	23					T	16216929	C	T	16216929	3	4	307	1	0	0	0	0	1	0	0	0	6222	759	27	1	273	1	GALNTL2	3	16216929	Missense_Mutation	SNP	C	TCGA-KK-A59Y-01A-11D-A26M-08		16216929	181805501	4	15726											
MEGF10	84466	broad.mit.edu	37	chr5	126784895	126784895	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccggctgactggaaacatggCggctacctcaacgagctcgg	9	6	13	13	4	1	1	1	1	0	0	2	3	1	2	2	5	4	3	2	5	3	1	rs373066612		TCGA-KK-A59Y-01A-11D-A26M-08	TCGA-KK-A59Y-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f150d1e-e7b6-4c8b-a4bd-2b2d5c80b088	ddec5241-9e83-475b-80aa-fc72dd813f38	g.chr5:126784895C>T	ENST00000274473.6	+	23	3228	c.2961C>T	c.(2959-2961)ggC>ggT	p.G987G	MEGF10_ENST00000510828.1_3'UTR|MEGF10_ENST00000503335.2_Silent_p.G987G	NM_032446.2	NP_115822.1	Q96KG7	MEG10_HUMAN	multiple EGF-like-domains 10	987	Necessary for formation of large intracellular vacuoles.				homotypic cell-cell adhesion (GO:0034109)|muscle cell development (GO:0055001)|recognition of apoptotic cell (GO:0043654)|regulation of muscle cell differentiation (GO:0051147)|regulation of skeletal muscle tissue development (GO:0048641)|skeletal muscle satellite cell activation (GO:0014719)|skeletal muscle satellite cell differentiation (GO:0014816)|skeletal muscle satellite cell proliferation (GO:0014841)	cell projection (GO:0042995)|integral component of membrane (GO:0016021)|phagocytic cup (GO:0001891)				breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(28)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	68		Prostate(80;0.165)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123)		GGAAACATGGCGGCTACCTCA	0.527																																						ENST00000274473.6																			0				breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(28)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	68						c.(2959-2961)ggC>ggT		multiple EGF-like-domains 10		C		0,4406		0,0,2203	73	75	75		2961	-2.1	0.8	5		75	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	MEGF10	NM_032446.2		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		987/1141	126784895	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	84466				cell adhesion|phagocytosis	basolateral plasma membrane|cell projection|integral to membrane|phagocytic cup		g.chr5:126784895C>T	AK021631	CCDS4142.1	5q33	2008-02-05			ENSG00000145794	ENSG00000145794			29634	protein-coding gene	gene with protein product		612453				11347906	Standard	NM_032446		Approved	KIAA1780	uc003kui.4	Q96KG7	OTTHUMG00000128984	ENST00000274473.6:c.2961C>T	5.37:g.126784895C>T						MEGF10_ENST00000503335.2_Silent_p.G987G|MEGF10_ENST00000510828.1_3'UTR	p.G987G	NM_032446.2	NP_115822.1	Q96KG7	MEG10_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123)	23	3228	+		Prostate(80;0.165)	987			Necessary for formation of large intracellular vacuoles.		Q68DE5|Q8WUL3	Silent	SNP	ENST00000274473.6	37	c.2961C>T	CCDS4142.1																																																																																				0.527	MEGF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250973.2	NM_032446		10	76	0	0	0	1	0	10	76					T	126784895	C	T	126784895	2	4	307	1	0	0	0	0	0	0	0	1	9460	755	27	1		1	MEGF10	5	126784895	Silent	SNP	C	TCGA-KK-A59Y-01A-11D-A26M-08		126784895	54130365	5	15727											
DAAM2	23500	broad.mit.edu	37	chr6	39869739	39869739	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aggacttatgcaagctcaagCgcagccgcaagcgatcaggg	12	5	13	11	3	2	0	2	0	0	0	2	2	2	1	1	2	5	4	1	2	4	1			TCGA-KK-A59Y-01A-11D-A26M-08	TCGA-KK-A59Y-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f150d1e-e7b6-4c8b-a4bd-2b2d5c80b088	ddec5241-9e83-475b-80aa-fc72dd813f38	g.chr6:39869739C>T	ENST00000398904.2	+	25	3315	c.3133C>T	c.(3133-3135)Cgc>Tgc	p.R1045C	DAAM2_ENST00000538976.1_Missense_Mutation_p.R1044C|RP11-61I13.3_ENST00000437947.1_RNA|DAAM2_ENST00000274867.4_Missense_Mutation_p.R1045C			Q86T65	DAAM2_HUMAN	dishevelled associated activator of morphogenesis 2	1045	DAD. {ECO:0000255|PROSITE- ProRule:PRU00577}.				actin cytoskeleton organization (GO:0030036)|determination of left/right symmetry (GO:0007368)					NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(18)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)	49	Ovarian(28;0.0355)|Colorectal(47;0.196)					CAAGCTCAAGCGCAGCCGCAA	0.612																																						ENST00000538976.1																			0				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(18)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)	49						c.(3130-3132)Cgc>Tgc		dishevelled associated activator of morphogenesis 2							35	43	40					6																	39869739		2026	4182	6208	SO:0001583	missense	23500				actin cytoskeleton organization		actin binding|Rho GTPase binding	g.chr6:39869739C>T	AB002379	CCDS54999.1, CCDS56426.1	6p21.1	2008-07-30			ENSG00000146122	ENSG00000146122			18143	protein-coding gene	gene with protein product		606627				11779461, 12632087	Standard	NM_015345		Approved	KIAA0381	uc003oow.3	Q86T65	OTTHUMG00000014653	ENST00000398904.2:c.3133C>T	6.37:g.39869739C>T	ENSP00000381876:p.Arg1045Cys					DAAM2_ENST00000274867.4_Missense_Mutation_p.R1045C|DAAM2_ENST00000398904.2_Missense_Mutation_p.R1045C	p.R1044C	NM_015345.3	NP_056160.2	Q86T65	DAAM2_HUMAN			25	3312	+	Ovarian(28;0.0355)|Colorectal(47;0.196)		1045			DAD.		G5EA45|Q5T4T8|Q5T4U0|Q9NQI5|Q9Y4G0	Missense_Mutation	SNP	ENST00000398904.2	37	c.3130C>T	CCDS56426.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.387249	0.82902	.	.	ENSG00000146122	ENST00000274867;ENST00000398904;ENST00000538976	D;D;D	0.83250	-1.67;-1.67;-1.7	5.42	2.37	0.29283	Diaphanous autoregulatory (1);	0.000000	0.85682	D	0.000000	D	0.84437	0.5472	M	0.62723	1.935	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79108	0.992;0.982	D	0.85306	0.1076	10	0.87932	D	0	.	9.0682	0.36475	0.2372:0.6909:0.0:0.0718	.	1044;1045	G5EA45;Q86T65	.;DAAM2_HUMAN	C	1045;1045;1044	ENSP00000274867:R1045C;ENSP00000381876:R1045C;ENSP00000437808:R1044C	ENSP00000274867:R1045C	R	+	1	0	DAAM2	39977717	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.916000	0.56416	1.283000	0.44513	0.650000	0.86243	CGC		0.612	DAAM2-003	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000280648.1			21	26	0	0	0	1	0	21	26					T	39869739	C	T	39869739	3	4	307	1	0	0	0	0	1	0	0	0	4216	768	27	1	3224	1	DAAM2	6	39869739	Missense_Mutation	SNP	C	TCGA-KK-A59Y-01A-11D-A26M-08		39869739	131245328	6	15728											
RUNX2	860	broad.mit.edu	37	chr6	45390463	45390463	+	Silent	SNP	G	G	A																															caacagcagcagcagcagcaGcaacagcagcagcagcagca																										TCGA-KK-A59Y-01A-11D-A26M-08	TCGA-KK-A59Y-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f150d1e-e7b6-4c8b-a4bd-2b2d5c80b088	ddec5241-9e83-475b-80aa-fc72dd813f38	g.chr6:45390463G>A	ENST00000371438.1	+	2	550	c.192G>A	c.(190-192)caG>caA	p.Q64Q	RUNX2_ENST00000352853.5_Silent_p.Q132Q|RUNX2_ENST00000541979.1_Silent_p.Q132Q|RUNX2_ENST00000465038.2_Silent_p.Q64Q|RUNX2_ENST00000371436.6_Silent_p.Q64Q|RUNX2_ENST00000371432.3_Silent_p.Q50Q|RUNX2_ENST00000576263.1_Silent_p.Q64Q|RP1-244F24.1_ENST00000606796.1_RNA|RUNX2_ENST00000359524.5_Silent_p.Q50Q	NM_001024630.3	NP_001019801.3	Q13950	RUNX2_HUMAN	runt-related transcription factor 2	64	Poly-Gln.				BMP signaling pathway (GO:0030509)|cell maturation (GO:0048469)|cellular response to BMP stimulus (GO:0071773)|chondrocyte development (GO:0002063)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic forelimb morphogenesis (GO:0035115)|endochondral ossification (GO:0001958)|gene expression (GO:0010467)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription, DNA-templated (GO:0045892)|odontogenesis of dentin-containing tooth (GO:0042475)|ossification (GO:0001503)|osteoblast development (GO:0002076)|osteoblast differentiation (GO:0001649)|osteoblast fate commitment (GO:0002051)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus (GO:1901522)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|regulation of odontogenesis of dentin-containing tooth (GO:0042487)|stem cell differentiation (GO:0048863)|T cell differentiation (GO:0030217)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						agcagcagcagcaacagcagc	0.736																																						ENST00000371438.1																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						c.(190-192)caG>caA		runt-related transcription factor 2							11	16	14					6																	45390463		1448	3096	4544	SO:0001819	synonymous_variant	860				negative regulation of transcription, DNA-dependent|osteoblast differentiation|positive regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr6:45390463G>A	AF001450	CCDS43467.1, CCDS43468.1, CCDS43467.2, CCDS43468.2	6p21	2010-08-20			ENSG00000124813	ENSG00000124813			10472	protein-coding gene	gene with protein product		600211		CCD, CBFA1, CCD1		7835892	Standard	NM_001024630		Approved	AML3, PEBP2A1, PEBP2aA1	uc011dvx.2	Q13950	OTTHUMG00000014774	ENST00000371438.1:c.192G>A	6.37:g.45390463G>A						RUNX2_ENST00000576263.1_Silent_p.Q64Q|RUNX2_ENST00000541979.1_Silent_p.Q132Q|RUNX2_ENST00000352853.5_Silent_p.Q132Q|RUNX2_ENST00000371432.3_Silent_p.Q50Q|RUNX2_ENST00000359524.5_Silent_p.Q50Q|RUNX2_ENST00000371436.6_Silent_p.Q64Q|RUNX2_ENST00000465038.2_Silent_p.Q64Q	p.Q64Q	NM_001024630.3	NP_001019801.3	Q13950	RUNX2_HUMAN			2	550	+			64			Poly-Gln.		O14614|O14615|O95181	Silent	SNP	ENST00000371438.1	37	c.192G>A	CCDS43467.2																																																																																				0.736	RUNX2-003	KNOWN	not_organism_supported|upstream_ATG|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040755.2	NM_004348		5	24	0	0	0	1	0	5	24					A	45390463	G	A	45390463	2	1	307	1	0	0	0	0	0	0	0	1	13748	962	34	3		3	RUNX2	6	45390463	Silent	SNP	G	TCGA-KK-A59Y-01A-11D-A26M-08	5520724	45390463	125724604	7	15729	77	2									
RUNX2	860	broad.mit.edu	37	chr6	45390466	45390466	+	Silent	SNP	A	A	G																															cagcagcagcagcagcagcaAcagcagcagcagcagcagga																								rs575896136	byFrequency	TCGA-KK-A59Y-01A-11D-A26M-08	TCGA-KK-A59Y-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f150d1e-e7b6-4c8b-a4bd-2b2d5c80b088	ddec5241-9e83-475b-80aa-fc72dd813f38	g.chr6:45390466A>G	ENST00000371438.1	+	2	553	c.195A>G	c.(193-195)caA>caG	p.Q65Q	RUNX2_ENST00000352853.5_Silent_p.Q133Q|RUNX2_ENST00000541979.1_Silent_p.Q133Q|RUNX2_ENST00000465038.2_Silent_p.Q65Q|RUNX2_ENST00000371436.6_Silent_p.Q65Q|RUNX2_ENST00000371432.3_Silent_p.Q51Q|RUNX2_ENST00000576263.1_Silent_p.Q65Q|RP1-244F24.1_ENST00000606796.1_RNA|RUNX2_ENST00000359524.5_Silent_p.Q51Q	NM_001024630.3	NP_001019801.3	Q13950	RUNX2_HUMAN	runt-related transcription factor 2	65	Poly-Gln.				BMP signaling pathway (GO:0030509)|cell maturation (GO:0048469)|cellular response to BMP stimulus (GO:0071773)|chondrocyte development (GO:0002063)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic forelimb morphogenesis (GO:0035115)|endochondral ossification (GO:0001958)|gene expression (GO:0010467)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription, DNA-templated (GO:0045892)|odontogenesis of dentin-containing tooth (GO:0042475)|ossification (GO:0001503)|osteoblast development (GO:0002076)|osteoblast differentiation (GO:0001649)|osteoblast fate commitment (GO:0002051)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus (GO:1901522)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|regulation of odontogenesis of dentin-containing tooth (GO:0042487)|stem cell differentiation (GO:0048863)|T cell differentiation (GO:0030217)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						agcagcagcaacagcagcagc	0.731													A|||	8	0.00159744	0.0023	0	5008	,	,		7675	0.002		0	False		,,,				2504	0.0031					ENST00000371438.1																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						c.(193-195)caA>caG		runt-related transcription factor 2							10	15	14					6																	45390466		1452	3071	4523	SO:0001819	synonymous_variant	860				negative regulation of transcription, DNA-dependent|osteoblast differentiation|positive regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr6:45390466A>G	AF001450	CCDS43467.1, CCDS43468.1, CCDS43467.2, CCDS43468.2	6p21	2010-08-20			ENSG00000124813	ENSG00000124813			10472	protein-coding gene	gene with protein product		600211		CCD, CBFA1, CCD1		7835892	Standard	NM_001024630		Approved	AML3, PEBP2A1, PEBP2aA1	uc011dvx.2	Q13950	OTTHUMG00000014774	ENST00000371438.1:c.195A>G	6.37:g.45390466A>G						RUNX2_ENST00000576263.1_Silent_p.Q65Q|RUNX2_ENST00000541979.1_Silent_p.Q133Q|RUNX2_ENST00000352853.5_Silent_p.Q133Q|RUNX2_ENST00000371432.3_Silent_p.Q51Q|RUNX2_ENST00000359524.5_Silent_p.Q51Q|RUNX2_ENST00000371436.6_Silent_p.Q65Q|RUNX2_ENST00000465038.2_Silent_p.Q65Q	p.Q65Q	NM_001024630.3	NP_001019801.3	Q13950	RUNX2_HUMAN			2	553	+			65			Poly-Gln.		O14614|O14615|O95181	Silent	SNP	ENST00000371438.1	37	c.195A>G	CCDS43467.2																																																																																				0.731	RUNX2-003	KNOWN	not_organism_supported|upstream_ATG|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040755.2	NM_004348		5	22	0	0	0	1	0	5	22					G	45390466	A	G	45390466	2	3	307	1	0	0	0	0	0	0	0	1	13748	40	2	4		4	RUNX2	6	45390466	Silent	SNP	A	TCGA-KK-A59Y-01A-11D-A26M-08	3	45390466	125724601	8	15730	77	2									
EGFR	1956	broad.mit.edu	37	chr7	55223567	55223567	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gctcgtgcgtccgagcctgtGgggccgacagctatgagatg	6	8	16	11	4	0	1	0	1	0	1	2	4	1	1	3	2	3	2	3	2	1	1			TCGA-KK-A59Y-01A-11D-A26M-08	TCGA-KK-A59Y-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f150d1e-e7b6-4c8b-a4bd-2b2d5c80b088	ddec5241-9e83-475b-80aa-fc72dd813f38	g.chr7:55223567G>T	ENST00000275493.2	+	8	1111	c.934G>T	c.(934-936)Ggg>Tgg	p.G312W	EGFR_ENST00000442591.1_Missense_Mutation_p.G312W|EGFR_ENST00000344576.2_Missense_Mutation_p.G312W|EGFR_ENST00000342916.3_Missense_Mutation_p.G312W|EGFR_ENST00000454757.2_Missense_Mutation_p.G259W|EGFR_ENST00000420316.2_Missense_Mutation_p.G312W|EGFR_ENST00000455089.1_Missense_Mutation_p.G267W	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	312					activation of phospholipase A2 activity by calcium-mediated signaling (GO:0043006)|activation of phospholipase C activity (GO:0007202)|alkanesulfonate metabolic process (GO:0019694)|astrocyte activation (GO:0048143)|axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular response to amino acid stimulus (GO:0071230)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to drug (GO:0035690)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to estradiol stimulus (GO:0071392)|cellular response to mechanical stimulus (GO:0071260)|cerebral cortex cell migration (GO:0021795)|circadian rhythm (GO:0007623)|digestive tract morphogenesis (GO:0048546)|diterpenoid metabolic process (GO:0016101)|embryonic placenta development (GO:0001892)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hair follicle development (GO:0001942)|hydrogen peroxide metabolic process (GO:0042743)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|liver development (GO:0001889)|lung development (GO:0030324)|magnesium ion homeostasis (GO:0010960)|MAPK cascade (GO:0000165)|morphogenesis of an epithelial fold (GO:0060571)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein catabolic process (GO:0042177)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|polysaccharide metabolic process (GO:0005976)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of DNA repair (GO:0045739)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasoconstriction (GO:0045907)|positive regulation of vasodilation (GO:0045909)|protein autophosphorylation (GO:0046777)|protein insertion into membrane (GO:0051205)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to calcium ion (GO:0051592)|response to cobalamin (GO:0033590)|response to hydroxyisoflavone (GO:0033594)|response to osmotic stress (GO:0006970)|response to oxidative stress (GO:0006979)|response to stress (GO:0006950)|response to UV-A (GO:0070141)|salivary gland morphogenesis (GO:0007435)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|tongue development (GO:0043586)|translation (GO:0006412)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|Shc-EGFR complex (GO:0070435)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|epidermal growth factor-activated receptor activity (GO:0005006)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)|ubiquitin protein ligase binding (GO:0031625)			NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Afatinib(DB08916)|Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)|Vandetanib(DB05294)	CCGAGCCTGTGGGGCCGACAG	0.607		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																												ENST00000275493.2		8	yes	Dom	yes	Familial lung cancer	7	7p12.3-p12.1	1956	"A, O, Mis"	"epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)"			"E, O"		NSCLC	"glioma, NSCLC"		0				NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110						c.(934-936)Ggg>Tgg		epidermal growth factor receptor	Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)						53	50	51					7																	55223567		2203	4300	6503	SO:0001583	missense	1956	Lung Cancer, Familial Clustering of	Familial Cancer Database	incl. Hereditary Lung cancer, Hereditary Non-Small Cell Lung cancer	activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	g.chr7:55223567G>T		CCDS5514.1, CCDS5515.1, CCDS5516.1, CCDS47587.1	7p12	2014-09-17	2010-06-25		ENSG00000146648	ENSG00000146648			3236	protein-coding gene	gene with protein product	"erythroblastic leukemia viral (v-erb-b) oncogene homolog (avian)"	131550	"epidermal growth factor receptor (avian erythroblastic leukemia viral (v-erb-b) oncogene homolog)"	ERBB		1505215	Standard	NM_201282		Approved	ERBB1	uc003tqk.3	P00533	OTTHUMG00000023661	ENST00000275493.2:c.934G>T	7.37:g.55223567G>T	ENSP00000275493:p.Gly312Trp	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)				EGFR_ENST00000442591.1_Missense_Mutation_p.G312W|EGFR_ENST00000342916.3_Missense_Mutation_p.G312W|EGFR_ENST00000454757.2_Missense_Mutation_p.G259W|EGFR_ENST00000420316.2_Missense_Mutation_p.G312W|EGFR_ENST00000344576.2_Missense_Mutation_p.G312W|EGFR_ENST00000455089.1_Missense_Mutation_p.G267W	p.G312W	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		8	1111	+	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		312					O00688|O00732|P06268|Q14225|Q68GS5|Q92795|Q9BZS2|Q9GZX1|Q9H2C9|Q9H3C9|Q9UMD7|Q9UMD8|Q9UMG5	Missense_Mutation	SNP	ENST00000275493.2	37	c.934G>T	CCDS5514.1	.	.	.	.	.	.	.	.	.	.	G	14.07	2.425581	0.43020	.	.	ENSG00000146648	ENST00000455089;ENST00000342916;ENST00000395504;ENST00000344576;ENST00000420316;ENST00000275493;ENST00000442591;ENST00000454757;ENST00000533450	D;D;D;D;D;D;D	0.84223	-1.82;-1.82;-1.82;-1.82;-1.82;-1.82;-1.82	5.64	0.887	0.19200	Growth factor, receptor (1);Furin-like cysteine-rich domain (1);	0.168730	0.64402	D	0.000006	D	0.87422	0.6173	L	0.50333	1.59	0.26567	N	0.973629	D;P;D;D;D	0.76494	0.989;0.844;0.999;0.996;0.992	P;P;D;P;P	0.70716	0.819;0.808;0.97;0.896;0.827	T	0.79403	-0.1818	10	0.87932	D	0	.	8.8755	0.35343	0.8201:0.0:0.1799:0.0	.	267;312;312;312;312	Q504U8;P00533;P00533-3;P00533-4;P00533-2	.;EGFR_HUMAN;.;.;.	W	267;312;182;312;312;312;312;259;106	ENSP00000415559:G267W;ENSP00000342376:G312W;ENSP00000345973:G312W;ENSP00000413843:G312W;ENSP00000275493:G312W;ENSP00000410031:G312W;ENSP00000395243:G259W	ENSP00000275493:G312W	G	+	1	0	EGFR	55191061	0.309000	0.24518	0.134000	0.22075	0.084000	0.17831	2.561000	0.45905	0.231000	0.21079	0.655000	0.94253	GGG		0.607	EGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251456.2	NM_005228		65	61	1	0	7.73544e-29	1	8.5497e-29	65	61					T	55223567	G	T	55223567	3	4	307	1	0	0	0	0	1	0	0	0	4967	1348	47	5	964	5	EGFR	7	55223567	Missense_Mutation	SNP	G	TCGA-KK-A59Y-01A-11D-A26M-08		55223567	103915096	9	15731											
DHTKD1	55526	broad.mit.edu	37	chr10	12111037	12111037	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gggacatctggtgaacatggCctctgctactgcggcagcag	8	8	14	11	1	2	1	0	1	2	0	2	2	2	2	1	4	5	3	1	4	2	1			TCGA-KK-A59Y-01A-11D-A26M-08	TCGA-KK-A59Y-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f150d1e-e7b6-4c8b-a4bd-2b2d5c80b088	ddec5241-9e83-475b-80aa-fc72dd813f38	g.chr10:12111037C>T	ENST00000263035.4	+	1	67	c.5C>T	c.(4-6)gCc>gTc	p.A2V		NM_018706.5	NP_061176	Q96HY7	DHTK1_HUMAN	dehydrogenase E1 and transketolase domain containing 1	2					cell death (GO:0008219)|generation of precursor metabolites and energy (GO:0006091)|glycolytic process (GO:0006096)|hematopoietic progenitor cell differentiation (GO:0002244)|tricarboxylic acid cycle (GO:0006099)	mitochondrion (GO:0005739)	oxoglutarate dehydrogenase (succinyl-transferring) activity (GO:0004591)|thiamine pyrophosphate binding (GO:0030976)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(1)	44		Renal(717;0.228)	BRCA - Breast invasive adenocarcinoma(52;0.188)			GTGAACATGGCCTCTGCTACT	0.697																																						ENST00000263035.4																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(1)	44						c.(4-6)gCc>gTc		dehydrogenase E1 and transketolase domain containing 1							20	27	25					10																	12111037		2197	4291	6488	SO:0001583	missense	55526				glycolysis	mitochondrion	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding	g.chr10:12111037C>T	BC002477	CCDS7087.1	10p14	2003-11-24			ENSG00000181192	ENSG00000181192			23537	protein-coding gene	gene with protein product		614984				10997877	Standard	NM_018706		Approved	KIAA1630, MGC3090, DKFZP762M115	uc001ild.5	Q96HY7	OTTHUMG00000017677	ENST00000263035.4:c.5C>T	10.37:g.12111037C>T	ENSP00000263035:p.Ala2Val						p.A2V	NM_018706.5	NP_061176.3	Q96HY7	DHTK1_HUMAN	BRCA - Breast invasive adenocarcinoma(52;0.188)		1	67	+		Renal(717;0.228)	2					Q68CU5|Q9BUM8|Q9HCE2	Missense_Mutation	SNP	ENST00000263035.4	37	c.5C>T	CCDS7087.1	.	.	.	.	.	.	.	.	.	.	C	17.24	3.339877	0.60963	.	.	ENSG00000181192	ENST00000263035;ENST00000437298	T;T	0.18810	3.52;2.19	3.97	3.03	0.35002	.	2.058720	0.02559	N	0.096540	T	0.17109	0.0411	N	0.22421	0.69	0.09310	N	0.999999	B	0.06786	0.001	B	0.06405	0.002	T	0.15037	-1.0451	10	0.87932	D	0	.	6.4551	0.21926	0.0:0.7882:0.0:0.2118	.	2	Q96HY7	DHTK1_HUMAN	V	2	ENSP00000263035:A2V;ENSP00000388163:A2V	ENSP00000263035:A2V	A	+	2	0	DHTKD1	12151043	0.967000	0.33354	0.922000	0.36590	0.215000	0.24574	1.228000	0.32588	2.060000	0.61445	0.650000	0.86243	GCC		0.697	DHTKD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046777.1	NM_018706		11	11	0	0	0	1	0	11	11					T	12111037	C	T	12111037	3	4	307	1	0	0	0	0	1	0	0	0	4500	739	26	3	7	3	DHTKD1	10	12111037	Missense_Mutation	SNP	C	TCGA-KK-A59Y-01A-11D-A26M-08		12111037	123423710	10	15732											
MYOF	26509	broad.mit.edu	37	chr10	95159250	95159250	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tgtctgtgagaaggcatcatCcactggaaggtaatagttat	12	12	11	6	0	2	1	1	1	1	1	3	3	3	2	1	3	0	3	1	3	5	3			TCGA-KK-A59Y-01A-11D-A26M-08	TCGA-KK-A59Y-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f150d1e-e7b6-4c8b-a4bd-2b2d5c80b088	ddec5241-9e83-475b-80aa-fc72dd813f38	g.chr10:95159250C>T	ENST00000359263.4	-	13	1119	c.1120G>A	c.(1120-1122)Gat>Aat	p.D374N	MYOF_ENST00000371501.4_Missense_Mutation_p.D374N|MYOF_ENST00000371489.1_Missense_Mutation_p.D374N|MYOF_ENST00000371502.4_Missense_Mutation_p.D374N|MYOF_ENST00000358334.5_Missense_Mutation_p.D374N	NM_013451.3	NP_038479.1	Q9NZM1	MYOF_HUMAN	myoferlin	374	C2 3. {ECO:0000255|PROSITE- ProRule:PRU00041}.				blood circulation (GO:0008015)|cellular response to heat (GO:0034605)|muscle contraction (GO:0006936)|plasma membrane repair (GO:0001778)|regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030947)	caveola (GO:0005901)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)	phospholipid binding (GO:0005543)			NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						AAGGCATCATCCACTGGAAGG	0.338																																						ENST00000371501.4																			0				NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						c.(1120-1122)Gat>Aat		myoferlin							53	48	49					10																	95159250		1823	4078	5901	SO:0001583	missense	26509				blood circulation|muscle contraction|plasma membrane repair	caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane	phospholipid binding|protein binding	g.chr10:95159250C>T	AB033033	CCDS41550.1, CCDS41551.1	10q24	2014-06-27	2008-11-26	2008-11-26	ENSG00000138119	ENSG00000138119			3656	protein-coding gene	gene with protein product	"fer-1-like family member 3"	604603	"fer-1 (C.elegans)-like 3 (myoferlin)", "fer-1-like 3, myoferlin (C. elegans)"	FER1L3		10607832, 10995573, 17702744	Standard	NM_013451		Approved	KIAA1207	uc001kin.3	Q9NZM1	OTTHUMG00000018772	ENST00000359263.4:c.1120G>A	10.37:g.95159250C>T	ENSP00000352208:p.Asp374Asn					MYOF_ENST00000371489.1_Missense_Mutation_p.D374N|MYOF_ENST00000359263.4_Missense_Mutation_p.D374N|MYOF_ENST00000358334.5_Missense_Mutation_p.D374N|MYOF_ENST00000371502.4_Missense_Mutation_p.D374N	p.D374N			Q9NZM1	MYOF_HUMAN			13	1242	-			374			C2 3.		B3KQN5|Q5VWW2|Q5VWW3|Q5VWW4|Q5VWW5|Q7Z642|Q8IWH0|Q9HBU3|Q9NZM0|Q9ULL3|Q9Y4U4	Missense_Mutation	SNP	ENST00000359263.4	37	c.1120G>A	CCDS41551.1	.	.	.	.	.	.	.	.	.	.	C	32	5.119085	0.94385	.	.	ENSG00000138119	ENST00000358334;ENST00000359263;ENST00000371501;ENST00000371502;ENST00000371489	D;D;D;D;D	0.96802	-4.13;-4.13;-4.13;-4.13;-4.13	5.69	5.69	0.88448	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	D	0.98280	0.9430	M	0.82823	2.61	0.80722	D	1	D;D;D	0.89917	0.968;1.0;1.0	D;D;D	0.97110	0.939;0.996;1.0	D	0.98816	1.0745	10	0.72032	D	0.01	-23.4283	19.8246	0.96612	0.0:1.0:0.0:0.0	.	356;374;374	Q9NZM1-8;Q9NZM1-6;Q9NZM1	.;.;MYOF_HUMAN	N	374	ENSP00000351094:D374N;ENSP00000352208:D374N;ENSP00000360556:D374N;ENSP00000360557:D374N;ENSP00000360544:D374N	ENSP00000351094:D374N	D	-	1	0	MYOF	95149240	1.000000	0.71417	1.000000	0.80357	0.758000	0.43043	7.794000	0.85869	2.676000	0.91093	0.563000	0.77884	GAT		0.338	MYOF-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000049423.2	NM_013451		4	8	0	0	0	1	0	4	8					T	95159250	C	T	95159250	3	4	307	1	0	0	0	0	1	0	0	0	10089	855	30	3	5233	3	MYOF	10	95159250	Missense_Mutation	SNP	C	TCGA-KK-A59Y-01A-11D-A26M-08	83048213	95159250	40375497	11	15733											
PHRF1	57661	broad.mit.edu	37	chr11	608013	608013	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gccccgagaggtctggccccGgcctcctgccctctgagatc	4	7	12	18	2	2	2	0	1	2	2	4	4	3	2	7	3	1	0	7	3	0	0	rs201862192		TCGA-KK-A59Y-01A-11D-A26M-08	TCGA-KK-A59Y-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f150d1e-e7b6-4c8b-a4bd-2b2d5c80b088	ddec5241-9e83-475b-80aa-fc72dd813f38	g.chr11:608013G>A	ENST00000264555.5	+	14	2685	c.2557G>A	c.(2557-2559)Ggc>Agc	p.G853S	PHRF1_ENST00000413872.2_Missense_Mutation_p.G851S|PHRF1_ENST00000416188.2_Missense_Mutation_p.G852S|PHRF1_ENST00000533464.1_Missense_Mutation_p.G849S	NM_020901.2	NP_065952.2	Q9P1Y6	PHRF1_HUMAN	PHD and ring finger domains 1	853					mRNA processing (GO:0006397)|transcription from RNA polymerase II promoter (GO:0006366)	membrane (GO:0016020)	RNA polymerase binding (GO:0070063)|zinc ion binding (GO:0008270)			breast(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|urinary_tract(2)	28						GTCTGGCCCCGGCCTCCTGCC	0.667													G|||	1	0.000199681	0	0	5008	,	,		14603	0.001		0	False		,,,				2504	0					ENST00000264555.5																			0				breast(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|urinary_tract(2)	28						c.(2557-2559)Ggc>Agc		PHD and ring finger domains 1		G	SER/GLY	0,4072		0,0,2036	55	66	62		2554	-2.5	0	11		62	1,8357		0,1,4178	yes	missense	PHRF1	NM_020901.2	56	0,1,6214	AA,AG,GG		0.012,0.0,0.0080	possibly-damaging	852/1649	608013	1,12429	2036	4179	6215	SO:0001583	missense	57661						RNA polymerase binding|zinc ion binding	g.chr11:608013G>A	BC004950	CCDS44507.1, CCDS65987.1, CCDS65988.1, CCDS65989.1	11p15.5	2014-06-13			ENSG00000070047	ENSG00000070047		"RING-type (C3HC4) zinc fingers", "Zinc fingers, PHD-type"	24351	protein-coding gene	gene with protein product	"CTD binding SR like protein rA9", "protein phosphatase 1, regulatory subunit 125"	611780		RNF221			Standard	XM_005253027		Approved	KIAA1542, PPP1R125	uc010qwc.2	Q9P1Y6	OTTHUMG00000165141	ENST00000264555.5:c.2557G>A	11.37:g.608013G>A	ENSP00000264555:p.Gly853Ser					PHRF1_ENST00000416188.2_Missense_Mutation_p.G852S|PHRF1_ENST00000413872.2_Missense_Mutation_p.G851S|PHRF1_ENST00000533464.1_Missense_Mutation_p.G849S	p.G853S	NM_020901.2	NP_065952.2	Q9P1Y6	PHRF1_HUMAN			14	2685	+			853					A6H8W1|B7ZM64|B9EGP0|C9JS82|Q6PJP2|Q8IVY2|Q8N2Y7|Q9BSM2	Missense_Mutation	SNP	ENST00000264555.5	37	c.2557G>A		.	.	.	.	.	.	.	.	.	.	G	9.963	1.223442	0.22457	0.0	1.2E-4	ENSG00000070047	ENST00000264555;ENST00000413872;ENST00000416188;ENST00000533464	T;T;T;T	0.81163	-1.46;-1.45;-1.46;-1.46	4.98	-2.46	0.06461	.	0.527258	0.15757	N	0.246158	T	0.64023	0.2561	L	0.32530	0.975	0.09310	N	1	B;B;B;B	0.30021	0.173;0.265;0.265;0.173	B;B;B;B	0.20577	0.013;0.03;0.03;0.013	T	0.48658	-0.9016	10	0.19590	T	0.45	-10.8252	11.2405	0.48966	0.4614:0.0:0.5386:0.0	.	849;851;852;853	E9PJ24;F8WEF5;Q9P1Y6-3;Q9P1Y6	.;.;.;PHRF1_HUMAN	S	853;851;852;849	ENSP00000264555:G853S;ENSP00000388589:G851S;ENSP00000410626:G852S;ENSP00000431870:G849S	ENSP00000264555:G853S	G	+	1	0	PHRF1	598013	0.020000	0.18652	0.000000	0.03702	0.069000	0.16628	0.385000	0.20685	-0.516000	0.06470	-0.350000	0.07774	GGC		0.667	PHRF1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000382133.1	NM_020901		49	64	0	0	0	1	0	49	64					A	608013	G	A	608013	3	1	307	1	0	0	0	0	1	0	0	0	11861	1116	39	2	2604	2	PHRF1	11	608013	Missense_Mutation	SNP	G	TCGA-KK-A59Y-01A-11D-A26M-08		608013	134398503	12	15734											
MUC6	4588	broad.mit.edu	37	chr11	1025072	1025072	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttgaagttgccacacaagccGcagaggggatcctgcagacg	11	6	13	11	2	0	3	0	1	0	2	1	4	1	4	3	2	3	3	3	2	2	2	rs375951643		TCGA-KK-A59Y-01A-11D-A26M-08	TCGA-KK-A59Y-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f150d1e-e7b6-4c8b-a4bd-2b2d5c80b088	ddec5241-9e83-475b-80aa-fc72dd813f38	g.chr11:1025072G>T	ENST00000421673.2	-	24	3047	c.2997C>A	c.(2995-2997)tgC>tgA	p.C999*		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	999	VWFD 3. {ECO:0000255|PROSITE- ProRule:PRU00580}.				cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)	extracellular matrix structural constituent (GO:0005201)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CACACAAGCCGCAGAGGGGAT	0.647																																						ENST00000421673.2																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						c.(2995-2997)tgC>tgA		mucin 6, oligomeric mucus/gel-forming							28	36	33					11																	1025072		2059	4176	6235	SO:0001587	stop_gained	4588				maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent	g.chr11:1025072G>T	U97698, AY312160	CCDS44513.1	11p15.5	2008-02-05	2006-03-14		ENSG00000184956	ENSG00000184956		"Mucins"	7517	protein-coding gene	gene with protein product		158374	"mucin 6, gastric"			7680650	Standard	NM_005961		Approved		uc001lsw.2	Q6W4X9	OTTHUMG00000165140	ENST00000421673.2:c.2997C>A	11.37:g.1025072G>T	ENSP00000406861:p.Cys999*						p.C999*	NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	24	3047	-		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	999			VWFD 3.		O15329|Q14394|Q2TUQ5|Q4L207|Q8N8I1|Q8NAK1	Nonsense_Mutation	SNP	ENST00000421673.2	37	c.2997C>A	CCDS44513.1	.	.	.	.	.	.	.	.	.	.	G	38	7.112969	0.98070	.	.	ENSG00000184956	ENST00000421673	.	.	.	3.9	-0.79	0.10932	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.1852	0.42993	0.7758:0.0:0.2242:0.0	.	.	.	.	X	999	.	ENSP00000406861:C999X	C	-	3	2	MUC6	1015072	0.022000	0.18835	0.973000	0.42090	0.413000	0.31143	-0.695000	0.05109	-0.239000	0.09710	-0.265000	0.10407	TGC		0.647	MUC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382120.2	XM_290540		14	24	1	0	3.27435e-08	1	3.52623e-08	14	24					T	1025072	G	T	1025072	4	4	307	1	0	0	0	0	0	1	0	0	9980	1079	38	5	4362	5	MUC6	11	1025072	Nonsense_Mutation	SNP	G	TCGA-KK-A59Y-01A-11D-A26M-08	417059	1025072	133981444	13	15735											
NELL1	4745	broad.mit.edu	37	chr11	21135236	21135236	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	actgtgtcccaggatacattCgtgtggatgacttctcttgt	7	15	10	9	1	1	1	0	1	1	0	4	3	2	3	1	2	1	0	1	2	1	4	rs371025282		TCGA-KK-A59Y-01A-11D-A26M-08	TCGA-KK-A59Y-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f150d1e-e7b6-4c8b-a4bd-2b2d5c80b088	ddec5241-9e83-475b-80aa-fc72dd813f38	g.chr11:21135236C>T	ENST00000357134.5	+	13	1554	c.1402C>T	c.(1402-1404)Cgt>Tgt	p.R468C	NELL1_ENST00000325319.5_Missense_Mutation_p.R411C|NELL1_ENST00000298925.5_Missense_Mutation_p.R496C|NELL1_ENST00000532434.1_Missense_Mutation_p.R468C	NM_006157.3|NM_201551.1	NP_006148.2|NP_963845.1	Q92832	NELL1_HUMAN	NEL-like 1 (chicken)	468	EGF-like 1; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				cell differentiation (GO:0030154)|negative regulation of cyclin catabolic process (GO:2000599)|negative regulation of osteoblast proliferation (GO:0033689)|nervous system development (GO:0007399)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|regulation of gene expression (GO:0010468)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|nuclear envelope (GO:0005635)|perinuclear region of cytoplasm (GO:0048471)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	70						AGGATACATTCGTGTGGATGA	0.403																																						ENST00000298925.5																			0				NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	70						c.(1486-1488)Cgt>Tgt		NEL-like 1 (chicken)		C	CYS/ARG,CYS/ARG	0,4406		0,0,2203	339	284	303		1402,1402	5.3	1	11		303	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	NELL1	NM_006157.3,NM_201551.1	180,180	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging	468/811,468/764	21135236	1,13005	2203	4300	6503	SO:0001583	missense	4745				cell adhesion|nervous system development	extracellular region	calcium ion binding|structural molecule activity	g.chr11:21135236C>T	AK127805	CCDS7855.1, CCDS44555.1, CCDS73267.1, CCDS73268.1	11p15.1	2008-02-01	2001-11-28		ENSG00000165973	ENSG00000165973			7750	protein-coding gene	gene with protein product		602319	"nel (chicken)-like 1"			8975702	Standard	NM_006157		Approved	IDH3GL, FLJ45906	uc001mqe.3	Q92832	OTTHUMG00000166042	ENST00000357134.5:c.1402C>T	11.37:g.21135236C>T	ENSP00000349654:p.Arg468Cys					NELL1_ENST00000532434.1_Missense_Mutation_p.R468C|NELL1_ENST00000325319.5_Missense_Mutation_p.R411C|NELL1_ENST00000357134.5_Missense_Mutation_p.R468C	p.R496C			Q92832	NELL1_HUMAN			14	1639	+			468			EGF-like 3.		B2CKC1|Q4VB90|Q4VB91|Q6NSY8|Q9Y472	Missense_Mutation	SNP	ENST00000357134.5	37	c.1486C>T	CCDS7855.1	.	.	.	.	.	.	.	.	.	.	C	18.31	3.595215	0.66219	0.0	1.16E-4	ENSG00000165973	ENST00000298925;ENST00000357134;ENST00000325319;ENST00000532434	D;D;D;D	0.92249	-3.0;-3.0;-3.0;-3.0	5.29	5.29	0.74685	EGF-like region, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.000000	0.64402	D	0.000001	D	0.95310	0.8478	M	0.62723	1.935	0.80722	D	1	D;D;P;D	0.89917	1.0;1.0;0.562;0.999	D;D;B;D	0.87578	0.996;0.998;0.148;0.99	D	0.95552	0.8621	10	0.66056	D	0.02	-22.1431	17.1145	0.86685	0.0:1.0:0.0:0.0	.	411;496;468;468	F5H6I3;B3KXR2;Q92832-2;Q92832	.;.;.;NELL1_HUMAN	C	496;468;411;468	ENSP00000298925:R496C;ENSP00000349654:R468C;ENSP00000317837:R411C;ENSP00000437170:R468C	ENSP00000298925:R496C	R	+	1	0	NELL1	21091812	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	4.520000	0.60524	2.470000	0.83445	0.591000	0.81541	CGT		0.403	NELL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387588.1	NM_006157		16	49	0	0	0	1	0	16	49					T	21135236	C	T	21135236	3	4	307	1	0	0	0	0	1	0	0	0	10333	884	31	2	1452	2	NELL1	11	21135236	Missense_Mutation	SNP	C	TCGA-KK-A59Y-01A-11D-A26M-08	20110164	21135236	113871280	14	15736											
RNF121	55298	broad.mit.edu	37	chr11	71671926	71671926	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtggaagcagaggcacccaCgctcctacaatgtaagccac	13	5	10	13	1	0	1	0	0	0	1	1	2	1	2	3	2	3	4	3	2	4	2	rs558215963		TCGA-KK-A59Y-01A-11D-A26M-08	TCGA-KK-A59Y-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f150d1e-e7b6-4c8b-a4bd-2b2d5c80b088	ddec5241-9e83-475b-80aa-fc72dd813f38	g.chr11:71671926C>T	ENST00000361756.3	+	3	593	c.232C>T	c.(232-234)Cgc>Tgc	p.R78C	RNF121_ENST00000393713.3_Missense_Mutation_p.R46C|RNF121_ENST00000533380.1_Missense_Mutation_p.R46C|RNF121_ENST00000545854.1_5'UTR|RNF121_ENST00000530137.1_Missense_Mutation_p.R46C|RNF121_ENST00000490867.1_3'UTR	NM_018320.4	NP_060790.2	Q9H920	RN121_HUMAN	ring finger protein 121	78						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			endometrium(3)|kidney(2)|large_intestine(1)|lung(6)|urinary_tract(1)	13						GAGGCACCCACGCTCCTACAA	0.537													C|||	1	0.000199681	0	0	5008	,	,		20521	0		0	False		,,,				2504	0.001					ENST00000361756.3																			0				endometrium(3)|kidney(2)|large_intestine(1)|lung(6)|urinary_tract(1)	13						c.(232-234)Cgc>Tgc		ring finger protein 121							120	94	103					11																	71671926		2200	4293	6493	SO:0001583	missense	55298					integral to membrane	zinc ion binding	g.chr11:71671926C>T	AK001961	CCDS8203.1, CCDS73343.1	11q13.3	2008-02-05			ENSG00000137522	ENSG00000137522		"RING-type (C3HC4) zinc fingers"	21070	protein-coding gene	gene with protein product							Standard	NM_018320		Approved	FLJ11099	uc001ora.3	Q9H920	OTTHUMG00000157023	ENST00000361756.3:c.232C>T	11.37:g.71671926C>T	ENSP00000354571:p.Arg78Cys					RNF121_ENST00000490867.1_3'UTR|RNF121_ENST00000545854.1_5'UTR|RNF121_ENST00000393713.3_Missense_Mutation_p.R46C|RNF121_ENST00000533380.1_Missense_Mutation_p.R46C|RNF121_ENST00000530137.1_Missense_Mutation_p.R46C	p.R78C	NM_018320.4	NP_060790.2	Q9H920	RN121_HUMAN			3	593	+			78					B3KSW8|Q6IA57|Q6P449|Q96DB4	Missense_Mutation	SNP	ENST00000361756.3	37	c.232C>T	CCDS8203.1	.	.	.	.	.	.	.	.	.	.	C	23.1	4.369259	0.82463	.	.	ENSG00000137522	ENST00000361756;ENST00000533380;ENST00000393713;ENST00000530137	T;T;T;T	0.69561	-0.41;-0.41;-0.41;-0.41	5.5	5.5	0.81552	.	0.058929	0.64402	D	0.000003	T	0.79587	0.4471	M	0.74647	2.275	0.80722	D	1	D;D;D	0.76494	0.999;0.996;0.996	P;P;P	0.59703	0.862;0.785;0.65	T	0.82084	-0.0632	10	0.87932	D	0	.	16.9034	0.86119	0.0:1.0:0.0:0.0	.	46;46;78	C9JQY5;G3V148;Q9H920	.;.;RN121_HUMAN	C	78;46;46;46	ENSP00000354571:R78C;ENSP00000433574:R46C;ENSP00000377316:R46C;ENSP00000431286:R46C	ENSP00000354571:R78C	R	+	1	0	RNF121	71349574	1.000000	0.71417	0.996000	0.52242	0.996000	0.88848	5.584000	0.67490	2.588000	0.87417	0.655000	0.94253	CGC		0.537	RNF121-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347132.1	NM_018320		18	29	0	0	0	1	0	18	29					T	71671926	C	T	71671926	3	4	307	1	0	0	0	0	1	0	0	0	13431	536	19	1	242	1	RNF121	11	71671926	Missense_Mutation	SNP	C	TCGA-KK-A59Y-01A-11D-A26M-08	50536690	71671926	63334590	15	15737											
GRIN2B	2904	broad.mit.edu	37	chr12	13716879	13716879	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tctcgtcaaactccctgcggGacttggccgaggcaggccgc	6	7	13	15	4	2	0	1	0	1	0	4	2	3	1	3	4	2	1	3	4	1	1			TCGA-KK-A59Y-01A-11D-A26M-08	TCGA-KK-A59Y-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f150d1e-e7b6-4c8b-a4bd-2b2d5c80b088	ddec5241-9e83-475b-80aa-fc72dd813f38	g.chr12:13716879G>A	ENST00000609686.1	-	13	3502	c.3293C>T	c.(3292-3294)tCc>tTc	p.S1098F		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	1098					behavioral fear response (GO:0001662)|behavioral response to pain (GO:0048266)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|glutamate receptor signaling pathway (GO:0007215)|in utero embryonic development (GO:0001701)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning (GO:0007612)|learning or memory (GO:0007611)|memory (GO:0007613)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of synaptic plasticity (GO:0048167)|response to ethanol (GO:0045471)|sensory organ development (GO:0007423)|startle response (GO:0001964)|suckling behavior (GO:0001967)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Haloperidol(DB00502)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	CTCCCTGCGGGACTTGGCCGA	0.622																																						ENST00000279593.3																			0				NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143						c.(3292-3294)tCc>tTc		glutamate receptor, ionotropic, N-methyl D-aspartate 2B	Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)						56	51	53					12																	13716879		2203	4300	6503	SO:0001583	missense	2904				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	g.chr12:13716879G>A		CCDS8662.1	12p13.1	2014-07-16			ENSG00000273079			"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4586	protein-coding gene	gene with protein product		138252		NMDAR2B		1350383	Standard	NM_000834		Approved	GluN2B	uc001rbt.2	Q13224	OTTHUMG00000137373	ENST00000609686.1:c.3293C>T	12.37:g.13716879G>A	ENSP00000477455:p.Ser1098Phe						p.S1098F	NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN			13	3502	-			1098					Q12919|Q13220|Q13225|Q14CU4|Q9UM56	Missense_Mutation	SNP	ENST00000609686.1	37	c.3293C>T	CCDS8662.1	.	.	.	.	.	.	.	.	.	.	G	10.47	1.358348	0.24598	.	.	ENSG00000150086	ENST00000279593	T	0.11821	2.74	5.4	5.4	0.78164	Glutamate [NMDA] receptor, epsilon subunit, C-terminal (1);	0.119611	0.64402	D	0.000015	T	0.13372	0.0324	L	0.38838	1.175	0.80722	D	1	B	0.15719	0.014	B	0.17979	0.02	T	0.12218	-1.0556	10	0.12430	T	0.62	.	19.1729	0.93588	0.0:0.0:1.0:0.0	.	1098	Q13224	NMDE2_HUMAN	F	1098	ENSP00000279593:S1098F	ENSP00000279593:S1098F	S	-	2	0	GRIN2B	13608146	1.000000	0.71417	0.994000	0.49952	0.791000	0.44710	9.377000	0.97184	2.536000	0.85505	0.655000	0.94253	TCC		0.622	GRIN2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268014.2			13	38	0	0	0	1	0	13	38					A	13716879	G	A	13716879	3	1	307	1	0	0	0	0	1	0	0	0	6780	1174	41	3	1165	3	GRIN2B	12	13716879	Missense_Mutation	SNP	G	TCGA-KK-A59Y-01A-11D-A26M-08		13716879	120135016	16	15738											
ABCC4	10257	broad.mit.edu	37	chr13	95858797	95858797	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gacaccaacctggattcttcGgatgctgacgattgcctctg	8	11	10	12	2	2	1	0	1	2	0	3	5	2	3	3	2	3	1	3	2	1	3			TCGA-KK-A59Y-01A-11D-A26M-08	TCGA-KK-A59Y-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f150d1e-e7b6-4c8b-a4bd-2b2d5c80b088	ddec5241-9e83-475b-80aa-fc72dd813f38	g.chr13:95858797G>A	ENST00000376887.4	-	8	1264	c.1150C>T	c.(1150-1152)Cga>Tga	p.R384*	ABCC4_ENST00000431522.1_Nonsense_Mutation_p.R384*|ABCC4_ENST00000538287.1_3'UTR|ABCC4_ENST00000536256.1_Nonsense_Mutation_p.R309*|ABCC4_ENST00000412704.1_Nonsense_Mutation_p.R384*	NM_005845.3	NP_005836.2	O15439	MRP4_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 4	384					blood coagulation (GO:0007596)|oxidation-reduction process (GO:0055114)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of smooth muscle cell proliferation (GO:0048661)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|response to organonitrogen compound (GO:0010243)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet dense granule membrane (GO:0031088)	15-hydroxyprostaglandin dehydrogenase (NAD+) activity (GO:0016404)|ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43	all_neural(89;0.0878)|Medulloblastoma(90;0.163)				Adefovir Dipivoxil(DB00718)|Alprostadil(DB00770)|Atorvastatin(DB01076)|Cefazolin(DB01327)|Celecoxib(DB00482)|Conjugated Estrogens(DB00286)|Diclofenac(DB00586)|Dinoprostone(DB00917)|Dipyridamole(DB00975)|Fluorouracil(DB00544)|Flurbiprofen(DB00712)|Folic Acid(DB00158)|Gadoxetate(DB08884)|Glutathione(DB00143)|Ibuprofen(DB01050)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Lamivudine(DB00709)|Leucovorin(DB00650)|Meloxicam(DB00814)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|Nateglinide(DB00731)|Oseltamivir(DB00198)|Probenecid(DB01032)|Rosuvastatin(DB01098)|Sildenafil(DB00203)|Sorafenib(DB00398)|Sulfinpyrazone(DB01138)|Sunitinib(DB01268)|Tenofovir(DB00300)|Tioguanine(DB00352)|Ursodeoxycholic acid(DB01586)|Verapamil(DB00661)|Zidovudine(DB00495)	TGGATTCTTCGGATGCTGACG	0.483																																						ENST00000376887.4																			0				breast(1)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43						c.(1150-1152)Cga>Tga		ATP-binding cassette, sub-family C (CFTR/MRP), member 4	Cefazolin(DB01327)						94	88	90					13																	95858797		2203	4300	6503	SO:0001587	stop_gained	10257				platelet activation|platelet degranulation	integral to membrane|membrane fraction|plasma membrane|platelet dense granule membrane	15-hydroxyprostaglandin dehydrogenase (NAD+) activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|chloride channel activity	g.chr13:95858797G>A	U66682	CCDS9474.1	13q31	2012-03-14			ENSG00000125257	ENSG00000125257		"ATP binding cassette transporters / subfamily C"	55	protein-coding gene	gene with protein product	"canalicular multispecific organic anion transporter (ABC superfamily)", "bA464I2.1 (ATP-binding cassette, sub-family C (CFTR/MRP), member 4)", "multidrug resistance-associated protein 4", "multispecific organic anion transporter B"	605250				8894702, 9661885	Standard	NM_005845		Approved	MRP4, EST170205, MOAT-B, MOATB	uc001vmd.4	O15439	OTTHUMG00000017216	ENST00000376887.4:c.1150C>T	13.37:g.95858797G>A	ENSP00000366084:p.Arg384*					ABCC4_ENST00000536256.1_Nonsense_Mutation_p.R309*|ABCC4_ENST00000412704.1_Nonsense_Mutation_p.R384*|ABCC4_ENST00000431522.1_Nonsense_Mutation_p.R384*|ABCC4_ENST00000538287.1_3'UTR	p.R384*	NM_005845.3	NP_005836.2	O15439	MRP4_HUMAN			8	1264	-	all_neural(89;0.0878)|Medulloblastoma(90;0.163)		384					A9Z1Z7|Q8IVZ4|Q8IZN6|Q8NEW8|Q9Y6J2	Nonsense_Mutation	SNP	ENST00000376887.4	37	c.1150C>T	CCDS9474.1	.	.	.	.	.	.	.	.	.	.	G	37	6.499535	0.97616	.	.	ENSG00000125257	ENST00000412704;ENST00000376887;ENST00000536256;ENST00000431522	.	.	.	5.34	1.07	0.20283	.	0.398379	0.25848	N	0.027915	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.5309	0.67926	0.0:0.0:0.39:0.6099	.	.	.	.	X	384;384;309;384	.	ENSP00000366084:R384X	R	-	1	2	ABCC4	94656798	0.001000	0.12720	0.993000	0.49108	0.985000	0.73830	0.597000	0.24059	0.556000	0.29098	0.655000	0.94253	CGA		0.483	ABCC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045478.2	NM_005845		10	33	0	0	0	1	0	10	33					A	95858797	G	A	95858797	4	1	307	1	0	0	0	0	0	1	0	0	55	1124	39	2	2972	2	ABCC4	13	95858797	Nonsense_Mutation	SNP	G	TCGA-KK-A59Y-01A-11D-A26M-08		95858797	19311081	17	15739											
ALKBH1	8846	broad.mit.edu	37	chr14	78174327	78174327	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agagtcgccacagagcccacGgccgctgccatcttccccat	8	6	9	18	3	1	2	0	0	1	2	3	2	2	2	6	1	2	1	6	1	0	1			TCGA-KK-A59Y-01A-11D-A26M-08	TCGA-KK-A59Y-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f150d1e-e7b6-4c8b-a4bd-2b2d5c80b088	ddec5241-9e83-475b-80aa-fc72dd813f38	g.chr14:78174327G>A	ENST00000216489.3	-	1	36	c.21C>T	c.(19-21)gcC>gcT	p.A7A	SLIRP_ENST00000557431.1_5'Flank|SLIRP_ENST00000557623.1_5'Flank|SLIRP_ENST00000557342.1_5'Flank|SLIRP_ENST00000238688.5_5'Flank	NM_006020.2	NP_006011.2	Q13686	ALKB1_HUMAN	alkB, alkylation repair homolog 1 (E. coli)	7					developmental growth (GO:0048589)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA dealkylation involved in DNA repair (GO:0006307)|DNA demethylation (GO:0080111)|DNA repair (GO:0006281)|in utero embryonic development (GO:0001701)|negative regulation of neuron apoptotic process (GO:0043524)|neuron migration (GO:0001764)|neuron projection development (GO:0031175)|oxidative demethylation (GO:0070989)|placenta development (GO:0001890)|RNA repair (GO:0042245)	mitochondrion (GO:0005739)|nuclear euchromatin (GO:0005719)	chemoattractant activity (GO:0042056)|DNA-(apurinic or apyrimidinic site) lyase activity (GO:0003906)|ferrous iron binding (GO:0008198)|methylcytosine dioxygenase activity (GO:0070579)			endometrium(2)|lung(4)|ovary(1)|prostate(1)|skin(1)	9			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0291)		CAGAGCCCACGGCCGCTGCCA	0.637																																						ENST00000216489.3																			0				endometrium(2)|lung(4)|ovary(1)|prostate(1)|skin(1)	9						c.(19-21)gcC>gcT		alkB, alkylation repair homolog 1 (E. coli)							24	28	27					14																	78174327		2198	4295	6493	SO:0001819	synonymous_variant	8846				DNA dealkylation involved in DNA repair|DNA demethylation|oxidative demethylation|RNA repair	mitochondrion	DNA-(apurinic or apyrimidinic site) lyase activity|ferrous iron binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr14:78174327G>A	X91992	CCDS32127.1	14q24	2014-07-23	2006-02-09	2006-02-09	ENSG00000100601	ENSG00000100601		"Alkylation repair homologs"	17911	protein-coding gene	gene with protein product		605345	"alkB, alkylation repair homolog (E. coli)"	ALKBH		8600462	Standard	XM_005268165		Approved	hABH, alkB, ABH	uc001xuc.1	Q13686	OTTHUMG00000171542	ENST00000216489.3:c.21C>T	14.37:g.78174327G>A							p.A7A	NM_006020.2	NP_006011.2	Q13686	ALKB1_HUMAN	Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0291)	1	36	-			7					Q8TAU1|Q9ULA7	Silent	SNP	ENST00000216489.3	37	c.21C>T	CCDS32127.1																																																																																				0.637	ALKBH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414037.1	NM_006020		23	28	0	0	0	1	0	23	28					A	78174327	G	A	78174327	2	1	307	1	0	0	0	0	0	0	0	1	526	1103	39	2		2	ALKBH1	14	78174327	Silent	SNP	G	TCGA-KK-A59Y-01A-11D-A26M-08		78174327	29175213	18	15740											
MTMR15	22909	broad.mit.edu	37	chr15	31197979	31197979	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtcctggtcaaacaaccggTcatccttactaccttcggag	9	10	9	13	2	2	0	2	0	0	0	5	1	4	1	4	4	4	0	4	4	4	3			TCGA-KK-A59Y-01A-11D-A26M-08	TCGA-KK-A59Y-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f150d1e-e7b6-4c8b-a4bd-2b2d5c80b088	ddec5241-9e83-475b-80aa-fc72dd813f38	g.chr15:31197979T>C	ENST00000362065.4	+	2	1404	c.1113T>C	c.(1111-1113)ggT>ggC	p.G371G	FAN1_ENST00000561594.1_Silent_p.G371G|FAN1_ENST00000565466.1_Silent_p.G371G|FAN1_ENST00000561607.1_Silent_p.G371G	NM_014967.4	NP_055782.3	Q9Y2M0	FAN1_HUMAN	FANCD2/FANCI-associated nuclease 1	371					DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA incision (GO:0033683)	nucleus (GO:0005634)	5'-3' exonuclease activity (GO:0008409)|5'-flap endonuclease activity (GO:0017108)|DNA binding (GO:0003677)|magnesium ion binding (GO:0000287)|phosphodiesterase I activity (GO:0004528)|ubiquitin binding (GO:0043130)			autonomic_ganglia(2)|breast(2)|cervix(2)|endometrium(7)|kidney(1)|large_intestine(6)|lung(8)|skin(1)	29						AAACAACCGGTCATCCTTACT	0.463								Direct reversal of damage																														ENST00000362065.4																			0				autonomic_ganglia(2)|breast(2)|cervix(2)|endometrium(7)|kidney(1)|large_intestine(6)|lung(8)|skin(1)	29						c.(1111-1113)ggT>ggC	Direct reversal of damage	FANCD2/FANCI-associated nuclease 1							175	165	169					15																	31197979		2202	4300	6502	SO:0001819	synonymous_variant	22909				double-strand break repair via homologous recombination|nucleotide-excision repair, DNA incision	nucleus	5'-3' exonuclease activity|5'-flap endonuclease activity|DNA binding|magnesium ion binding|phosphodiesterase I activity|ubiquitin binding	g.chr15:31197979T>C		CCDS32186.1, CCDS58344.1	15q13.2-q13.3	2010-08-04	2010-08-04	2010-08-04		ENSG00000198690			29170	protein-coding gene	gene with protein product		613534	"KIAA1018", "myotubularin related protein 15"	KIAA1018, MTMR15		20603015, 20603016, 20603073	Standard	NM_014967		Approved		uc001zff.3	Q9Y2M0		ENST00000362065.4:c.1113T>C	15.37:g.31197979T>C						FAN1_ENST00000561607.1_Silent_p.G371G|FAN1_ENST00000565466.1_Silent_p.G371G|FAN1_ENST00000561594.1_Silent_p.G371G	p.G371G	NM_014967.4	NP_055782.3	Q9Y2M0	FAN1_HUMAN			2	1404	+			371					A8K4M2|Q86WU8	Silent	SNP	ENST00000362065.4	37	c.1113T>C	CCDS32186.1																																																																																				0.463	FAN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430740.1	NM_014967		8	86	0	0	0	1	0	8	86					C	31197979	T	C	31197979	2	2	307	1	0	0	0	0	0	0	0	1	9943	1654	58	4		4	MTMR15	15	31197979	Silent	SNP	T	TCGA-KK-A59Y-01A-11D-A26M-08		31197979	71333413	19	15741											
CHRNA7	1139	broad.mit.edu	37	chr15	32460275	32460275	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggagatgagcgccgtggcGccgccgcccgccagcaacgg	6	3	17	15	7	0	2	0	1	0	1	0	3	0	2	5	3	3	1	5	3	1	0	rs201805261		TCGA-KK-A59Y-01A-11D-A26M-08	TCGA-KK-A59Y-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f150d1e-e7b6-4c8b-a4bd-2b2d5c80b088	ddec5241-9e83-475b-80aa-fc72dd813f38	g.chr15:32460275G>A	ENST00000306901.3	+	10	1222	c.1125G>A	c.(1123-1125)gcG>gcA	p.A375A	CHRNA7_ENST00000454250.3_Silent_p.A404A|CHRNA7_ENST00000455693.2_Silent_p.A194A	NM_000746.5	NP_000737.1	P36544	ACHA7_HUMAN	cholinergic receptor, nicotinic, alpha 7 (neuronal)	375				A -> G (in Ref. 1; CAA49778). {ECO:0000305}.	activation of MAPK activity (GO:0000187)|associative learning (GO:0008306)|B cell activation (GO:0042113)|behavioral response to ethanol (GO:0048149)|behavioral response to nicotine (GO:0035095)|calcium ion transport (GO:0006816)|cation transmembrane transport (GO:0098655)|cellular calcium ion homeostasis (GO:0006874)|cognition (GO:0050890)|dopamine biosynthetic process (GO:0042416)|endocytosis (GO:0006897)|generation of ovulation cycle rhythm (GO:0060112)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|memory (GO:0007613)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 beta production (GO:0032691)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of tumor necrosis factor production (GO:0032720)|neuronal action potential (GO:0019228)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell proliferation (GO:0008284)|positive regulation of heart rate involved in baroreceptor response to decreased systemic arterial blood pressure (GO:0001988)|regulation of norepinephrine secretion (GO:0014061)|regulation of synaptic transmission, dopaminergic (GO:0032225)|response to food (GO:0032094)|response to hypoxia (GO:0001666)|response to nicotine (GO:0035094)|signal transduction (GO:0007165)|sperm motility (GO:0030317)|synaptic transmission (GO:0007268)|synaptic transmission, cholinergic (GO:0007271)|T cell activation (GO:0042110)	acetylcholine-gated channel complex (GO:0005892)|apical plasma membrane (GO:0016324)|asymmetric synapse (GO:0032279)|axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|external side of plasma membrane (GO:0009897)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	acetylcholine binding (GO:0042166)|acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|acetylcholine-gated cation channel activity (GO:0022848)|beta-amyloid binding (GO:0001540)|chloride channel regulator activity (GO:0017081)|drug binding (GO:0008144)|protein homodimerization activity (GO:0042803)|toxic substance binding (GO:0015643)			endometrium(3)|large_intestine(1)|lung(6)|ovary(2)	12		all_lung(180;6.35e-11)		all cancers(64;3.34e-21)|Epithelial(43;2.64e-15)|GBM - Glioblastoma multiforme(186;5.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.00112)|Lung(196;0.227)	Amobarbital(DB01351)|Aprobarbital(DB01352)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Dextromethorphan(DB00514)|Galantamine(DB00674)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Methylphenobarbital(DB00849)|Nicotine(DB00184)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Primidone(DB00794)|Secobarbital(DB00418)|Talbutal(DB00306)|Thiopental(DB00599)|Varenicline(DB01273)	GCGCCGTGGCGCCGCCGCCCG	0.706																																					Esophageal Squamous(193;529 2900 40232 43193)	ENST00000306901.3																			0				endometrium(3)|large_intestine(1)|lung(6)|ovary(2)	12						c.(1123-1125)gcG>gcA		cholinergic receptor, nicotinic, alpha 7 (neuronal)	Nicotine(DB00184)|Varenicline(DB01273)						30	39	36					15																	32460275		2195	4296	6491	SO:0001819	synonymous_variant	1139				activation of MAPK activity|calcium ion transport|cellular calcium ion homeostasis|memory|negative regulation of tumor necrosis factor production|positive regulation of angiogenesis|positive regulation of cell proliferation|response to hypoxia|response to nicotine	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|beta-amyloid binding|chloride channel regulator activity|nicotinic acetylcholine-activated cation-selective channel activity|protein homodimerization activity|toxin binding	g.chr15:32460275G>A	Z23141	CCDS10027.1, CCDS53924.1	15q13.3	2012-02-11	2012-02-07		ENSG00000175344	ENSG00000175344		"Cholinergic receptors", "Ligand-gated ion channels / Acetylcholine receptors, nicotinic"	1960	protein-coding gene	gene with protein product	"acetylcholine receptor, nicotinic, alpha 7 (neuronal)"	118511	"cholinergic receptor, nicotinic, alpha polypeptide 7"			8188270	Standard	NM_001190455		Approved		uc021sic.2	P36544	OTTHUMG00000129285	ENST00000306901.3:c.1125G>A	15.37:g.32460275G>A						CHRNA7_ENST00000455693.2_Silent_p.A194A|CHRNA7_ENST00000454250.3_Silent_p.A404A	p.A375A	NM_000746.5	NP_000737.1	P36544	ACHA7_HUMAN		all cancers(64;3.34e-21)|Epithelial(43;2.64e-15)|GBM - Glioblastoma multiforme(186;5.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.00112)|Lung(196;0.227)	10	1222	+		all_lung(180;6.35e-11)	375	A -> G (in Ref. 1; CAA49778).				A8K7Q4|B4DFS0|Q15826|Q8IUZ4|Q96RH2|Q99555|Q9BXH0	Silent	SNP	ENST00000306901.3	37	c.1125G>A	CCDS10027.1																																																																																				0.706	CHRNA7-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000251410.2			24	61	0	0	0	1	0	24	61					A	32460275	G	A	32460275	2	1	307	1	0	0	0	0	0	0	0	1	3388	1074	38	1		1	CHRNA7	15	32460275	Silent	SNP	G	TCGA-KK-A59Y-01A-11D-A26M-08	1262296	32460275	70071117	20	15742											
FHOD1	29109	broad.mit.edu	37	chr16	67270959	67270959	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aagaaggctttcgtcgttccCgccgcccaccagcgcctggg	6	7	12	16	5	0	1	0	0	0	1	3	1	1	1	5	2	1	2	5	2	2	2			TCGA-KK-A59Y-01A-11D-A26M-08	TCGA-KK-A59Y-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f150d1e-e7b6-4c8b-a4bd-2b2d5c80b088	ddec5241-9e83-475b-80aa-fc72dd813f38	g.chr16:67270959C>T	ENST00000258201.4	-	10	1299	c.1052G>A	c.(1051-1053)cGg>cAg	p.R351Q		NM_013241.2	NP_037373.2	Q9Y613	FHOD1_HUMAN	formin homology 2 domain containing 1	351	GBD/FH3. {ECO:0000255|PROSITE- ProRule:PRU00579}.				positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|membrane (GO:0016020)|nucleus (GO:0005634)	identical protein binding (GO:0042802)			breast(4)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	34		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.000691)|Epithelial(162;0.00462)|all cancers(182;0.0434)		TCGTCGTTCCCGCCGCCCACC	0.617																																						ENST00000258201.4																			0				breast(4)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	34						c.(1051-1053)cGg>cAg		formin homology 2 domain containing 1							53	58	56					16																	67270959		2198	4300	6498	SO:0001583	missense	29109				actin cytoskeleton organization	cytoplasm|cytoskeleton|nucleus	actin binding	g.chr16:67270959C>T	AF113615	CCDS10834.1	16q22	2008-02-22			ENSG00000135723	ENSG00000135723			17905	protein-coding gene	gene with protein product		606881				10352228, 16112087	Standard	NM_013241		Approved	FHOS	uc002esl.3	Q9Y613	OTTHUMG00000137521	ENST00000258201.4:c.1052G>A	16.37:g.67270959C>T	ENSP00000258201:p.Arg351Gln					FHOD1_ENST00000567687.1_Intron	p.R351Q	NM_013241.2	NP_037373.2	Q9Y613	FHOD1_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.000691)|Epithelial(162;0.00462)|all cancers(182;0.0434)	10	1299	-		Ovarian(137;0.0563)	351			GBD/FH3.		Q59F76|Q6Y1F2|Q76MS8|Q8N521	Missense_Mutation	SNP	ENST00000258201.4	37	c.1052G>A	CCDS10834.1	.	.	.	.	.	.	.	.	.	.	C	19.16	3.773948	0.69992	.	.	ENSG00000135723	ENST00000258201	T	0.26518	1.73	5.93	4.97	0.65823	GTPase-binding/formin homology 3 (1);	0.207753	0.40554	N	0.001071	T	0.15435	0.0372	N	0.20986	0.625	0.80722	D	1	D	0.52996	0.957	B	0.36378	0.223	T	0.01993	-1.1233	10	0.59425	D	0.04	.	12.4955	0.55925	0.0:0.921:0.0:0.079	.	351	Q9Y613	FHOD1_HUMAN	Q	351	ENSP00000258201:R351Q	ENSP00000258201:R351Q	R	-	2	0	FHOD1	65828460	0.993000	0.37304	1.000000	0.80357	0.936000	0.57629	2.030000	0.41108	2.814000	0.96858	0.655000	0.94253	CGG		0.617	FHOD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268844.2			46	64	0	0	0	1	0	46	64					T	67270959	C	T	67270959	3	4	307	1	0	0	0	0	1	0	0	0	5882	652	23	2	2494	2	FHOD1	16	67270959	Missense_Mutation	SNP	C	TCGA-KK-A59Y-01A-11D-A26M-08		67270959	23083794	21	15743											
POLR2A	5430	broad.mit.edu	37	chr17	7412414	7412414	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcctgactttgatgtggcccGaatctccccctggctgttgc	4	12	11	14	1	1	2	0	2	1	0	2	3	1	2	4	2	1	2	4	2	1	2			TCGA-KK-A59Y-01A-11D-A26M-08	TCGA-KK-A59Y-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f150d1e-e7b6-4c8b-a4bd-2b2d5c80b088	ddec5241-9e83-475b-80aa-fc72dd813f38	g.chr17:7412414G>A	ENST00000322644.6	+	21	4016	c.3617G>A	c.(3616-3618)cGa>cAa	p.R1206Q		NM_000937.4	NP_000928	P24928	RPB1_HUMAN	polymerase (RNA) II (DNA directed) polypeptide A, 220kDa	1206					7-methylguanosine mRNA capping (GO:0006370)|DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|nucleotide-excision repair (GO:0006289)|positive regulation of viral transcription (GO:0050434)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032)	DNA-directed RNA polymerase II, core complex (GO:0005665)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|RNA-directed RNA polymerase activity (GO:0003968)|ubiquitin protein ligase binding (GO:0031625)			breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(17)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	50		Prostate(122;0.173)				GATGTGGCCCGAATCTCCCCC	0.537																																						ENST00000322644.6																			0				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(17)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	50						c.(3616-3618)cGa>cAa		polymerase (RNA) II (DNA directed) polypeptide A, 220kDa							120	80	94					17																	7412414		2203	4300	6503	SO:0001583	missense	5430				mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|RNA-directed RNA polymerase activity|ubiquitin protein ligase binding	g.chr17:7412414G>A			17p13.1	2013-01-21	2002-08-29		ENSG00000181222	ENSG00000181222	2.7.7.6	"RNA polymerase subunits"	9187	protein-coding gene	gene with protein product	"DNA-directed RNA polymerase II largest subunit, RNA polymerase II 220 kd subunit", "RNA polymerase II subunit B1"	180660	"polymerase (RNA) II (DNA directed) polypeptide A (220kD)"	POLR2			Standard	NM_000937		Approved	POLRA, RPB1	uc002ghf.4	P24928	OTTHUMG00000177594	ENST00000322644.6:c.3617G>A	17.37:g.7412414G>A	ENSP00000314949:p.Arg1206Gln						p.R1206Q	NM_000937.4	NP_000928.1	P24928	RPB1_HUMAN			21	4016	+		Prostate(122;0.173)	1206					A6NN93|B9EH88|Q6NX41	Missense_Mutation	SNP	ENST00000322644.6	37	c.3617G>A	CCDS32548.1	.	.	.	.	.	.	.	.	.	.	G	34	5.351184	0.95830	.	.	ENSG00000181222	ENST00000535204;ENST00000545644;ENST00000322644	T	0.67171	-0.25	5.51	5.51	0.81932	RNA polymerase Rpb1, domain 5 (1);RNA polymerase Rpb1, domain 7 (1);	0.000000	0.64402	D	0.000002	T	0.65626	0.2709	M	0.67397	2.05	0.80722	D	1	P	0.35628	0.513	B	0.30105	0.111	T	0.69818	-0.5042	10	0.62326	D	0.03	-4.0017	18.2528	0.90009	0.0:0.0:1.0:0.0	.	1206	P24928	RPB1_HUMAN	Q	1162;105;1206	ENSP00000314949:R1206Q	ENSP00000314949:R1206Q	R	+	2	0	SLC35G6	7353138	1.000000	0.71417	0.994000	0.49952	0.989000	0.77384	9.049000	0.93837	2.611000	0.88343	0.449000	0.29647	CGA		0.537	POLR2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437967.1	NM_000937		3	24	0	0	0	1	0	3	24					A	7412414	G	A	7412414	3	1	307	1	0	0	0	0	1	0	0	0	12214	1058	37	2	3699	2	POLR2A	17	7412414	Missense_Mutation	SNP	G	TCGA-KK-A59Y-01A-11D-A26M-08		7412414	73782796	22	15744											
SLC16A6	9120	broad.mit.edu	37	chr17	66266980	66266980	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	attttgtgtatttaaattacCtgcaaggggcggtccagcca	10	13	10	8	1	0	0	0	0	0	0	1	0	1	0	3	3	3	2	3	3	5	6			TCGA-KK-A59Y-01A-11D-A26M-08	TCGA-KK-A59Y-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f150d1e-e7b6-4c8b-a4bd-2b2d5c80b088	ddec5241-9e83-475b-80aa-fc72dd813f38	g.chr17:66266980C>T	ENST00000327268.4	-	6	1485	c.1321G>A	c.(1321-1323)Ggt>Agt	p.G441S	ARSG_ENST00000448504.2_Intron|SLC16A6_ENST00000580666.1_Splice_Site_p.G441S	NM_001174166.1	NP_001167637.1	O15403	MOT7_HUMAN	solute carrier family 16, member 6	441					monocarboxylic acid transport (GO:0015718)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	monocarboxylic acid transmembrane transporter activity (GO:0008028)|symporter activity (GO:0015293)			large_intestine(3)|lung(8)|prostate(1)|skin(1)|urinary_tract(2)	15	all_cancers(12;1.24e-09)		BRCA - Breast invasive adenocarcinoma(8;3.17e-08)|LUSC - Lung squamous cell carcinoma(166;0.24)		Pyruvic acid(DB00119)	TTTAAATTACCTGCAAGGGGC	0.433																																						ENST00000327268.4																			0				large_intestine(3)|lung(8)|prostate(1)|skin(1)|urinary_tract(2)	15						c.e6+1		solute carrier family 16, member 6	Pyruvic acid(DB00119)						46	45	45					17																	66266980		2203	4300	6503	SO:0001630	splice_region_variant	9120					integral to plasma membrane|membrane fraction	monocarboxylic acid transmembrane transporter activity|symporter activity	g.chr17:66266980C>T	U79745	CCDS11675.1	17q24.2	2013-07-18	2013-07-18		ENSG00000108932	ENSG00000108932		"Solute carriers"	10927	protein-coding gene	gene with protein product		603880	"solute carrier family 16 (monocarboxylic acid transporters), member 6", "solute carrier family 16, member 6 (monocarboxylic acid transporter 7)"			9425115	Standard	NM_004694		Approved	MCT6, MCT7	uc002jgz.2	O15403	OTTHUMG00000179812	ENST00000327268.4:c.1321+1G>A	17.37:g.66266980C>T						SLC16A6_ENST00000580666.1_Splice_Site_p.G441_splice|ARSG_ENST00000448504.2_Intron	p.G441_splice	NM_001174166.1	NP_001167637.1	O15403	MOT7_HUMAN	BRCA - Breast invasive adenocarcinoma(8;3.17e-08)|LUSC - Lung squamous cell carcinoma(166;0.24)		6	1485	-	all_cancers(12;1.24e-09)		441					Q6P1X3	Splice_Site	SNP	ENST00000327268.4	37	c.1321_splice	CCDS11675.1	.	.	.	.	.	.	.	.	.	.	C	32	5.105088	0.94245	.	.	ENSG00000108932	ENST00000327268	T	0.68624	-0.34	4.52	4.52	0.55395	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.056663	0.64402	D	0.000001	D	0.84170	0.5413	M	0.88310	2.945	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.87066	0.2156	9	.	.	.	.	16.4022	0.83644	0.0:1.0:0.0:0.0	.	441	O15403	MOT7_HUMAN	S	441	ENSP00000319991:G441S	.	G	-	1	0	SLC16A6	63778575	1.000000	0.71417	1.000000	0.80357	0.934000	0.57294	7.495000	0.81514	2.340000	0.79590	0.484000	0.47621	GGT		0.433	SLC16A6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448323.1	NM_004694	Missense_Mutation	8	16	0	0	0	1	0	8	16					T	66266980	C	T	66266980	5	4	307	1	0	0	0	0	0	0	1	0	14412	695	24	3	258	3	SLC16A6	17	66266980	Splice_Site	SNP	C	TCGA-KK-A59Y-01A-11D-A26M-08	58854566	66266980	14928230	23	15745											
TMEM200C	645369	broad.mit.edu	37	chr18	5891983	5891983	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcttcttggctttccgcttgCgcttgggtatctggcttggg	1	17	13	10	2	3	0	0	0	3	0	4	0	4	0	1	4	1	5	1	4	1	7			TCGA-KK-A59Y-01A-11D-A26M-08	TCGA-KK-A59Y-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f150d1e-e7b6-4c8b-a4bd-2b2d5c80b088	ddec5241-9e83-475b-80aa-fc72dd813f38	g.chr18:5891983C>T	ENST00000581347.2	-	3	725	c.80G>A	c.(79-81)cGc>cAc	p.R27H	TMEM200C_ENST00000383490.2_Missense_Mutation_p.R27H|RP11-945C19.4_ENST00000577694.1_RNA|RP11-945C19.4_ENST00000580845.1_RNA|RP11-945C19.4_ENST00000582939.1_RNA			A6NKL6	T200C_HUMAN	transmembrane protein 200C	27						integral component of membrane (GO:0016021)				autonomic_ganglia(1)|endometrium(1)|large_intestine(4)|lung(5)|stomach(1)	12						TTTCCGCTTGCGCTTGGGTAT	0.612																																						ENST00000581347.1																			0				autonomic_ganglia(1)|endometrium(1)|large_intestine(4)|lung(5)|stomach(1)	12						c.(79-81)cGc>cAc		transmembrane protein 200C							74	81	79					18																	5891983		2109	4245	6354	SO:0001583	missense	645369					integral to membrane		g.chr18:5891983C>T		CCDS45825.1	18p11.31	2009-09-08			ENSG00000206432	ENSG00000206432			37208	protein-coding gene	gene with protein product						15722956	Standard	NM_001080209		Approved	TTMA	uc002kmx.1	A6NKL6		ENST00000581347.2:c.80G>A	18.37:g.5891983C>T	ENSP00000463375:p.Arg27His					RP11-945C19.4_ENST00000577694.1_RNA|TMEM200C_ENST00000383490.2_Missense_Mutation_p.R27H	p.R27H			A6NKL6	T200C_HUMAN			3	725	-			27						Missense_Mutation	SNP	ENST00000581347.2	37	c.80G>A	CCDS45825.1	.	.	.	.	.	.	.	.	.	.	C	25.4	4.635197	0.87760	.	.	ENSG00000206432	ENST00000383490	.	.	.	4.83	4.83	0.62350	.	0.056947	0.64402	D	0.000003	T	0.77705	0.4170	M	0.61703	1.905	0.49051	D	0.999748	D	0.89917	1.0	D	0.85130	0.997	T	0.80027	-0.1554	9	0.66056	D	0.02	-14.5878	18.2993	0.90158	0.0:1.0:0.0:0.0	.	27	A6NKL6	T200C_HUMAN	H	27	.	ENSP00000372982:R27H	R	-	2	0	TMEM200C	5881983	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	4.843000	0.62838	2.376000	0.81061	0.557000	0.71058	CGC		0.612	TMEM200C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441917.4	NM_001080209		15	17	0	0	0	1	0	15	17					T	5891983	C	T	5891983	3	4	307	1	0	0	0	0	1	0	0	0	16122	768	27	1	1789	1	TMEM200C	18	5891983	Missense_Mutation	SNP	C	TCGA-KK-A59Y-01A-11D-A26M-08		5891983	72185265	24	15746											
SLC35E1	79939	broad.mit.edu	37	chr19	16664638	16664638	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggggcttctccagtgggctcCggtgacgctccttgctgctc	2	11	14	14	2	1	1	0	1	1	0	5	1	3	1	3	4	2	5	3	4	0	2	rs147619010		TCGA-KK-A59Y-01A-11D-A26M-08	TCGA-KK-A59Y-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f150d1e-e7b6-4c8b-a4bd-2b2d5c80b088	ddec5241-9e83-475b-80aa-fc72dd813f38	g.chr19:16664638C>T	ENST00000595753.1	-	6	1102	c.1085G>A	c.(1084-1086)cGg>cAg	p.R362Q	CTD-3222D19.2_ENST00000409035.1_3'UTR|CTD-3222D19.11_ENST00000597357.1_RNA|SLC35E1_ENST00000593812.1_5'Flank	NM_024881.4	NP_079157.3	Q96K37	S35E1_HUMAN	solute carrier family 35, member E1	362					transport (GO:0006810)	integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(3)|large_intestine(7)|liver(1)|lung(2)|ovary(1)	15						CAGTGGGCTCCGGTGACGCTC	0.587																																						ENST00000595753.1																			0				central_nervous_system(1)|endometrium(3)|large_intestine(7)|liver(1)|lung(2)|ovary(1)	15						c.(1084-1086)cGg>cAg		solute carrier family 35, member E1		C	GLN/ARG	0,4406		0,0,2203	100	93	95		1085	4.5	0.1	19	dbSNP_134	95	1,8599	1.2+/-3.3	0,1,4299	no	missense	SLC35E1	NM_024881.4	43	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	362/411	16664638	1,13005	2203	4300	6503	SO:0001583	missense	79939				transport	integral to membrane		g.chr19:16664638C>T	AK024313	CCDS12346.2	19p13.11	2013-05-22			ENSG00000127526	ENSG00000127526		"Solute carriers"	20803	protein-coding gene	gene with protein product							Standard	NM_024881		Approved	FLJ14251	uc010xph.2	Q96K37	OTTHUMG00000152575	ENST00000595753.1:c.1085G>A	19.37:g.16664638C>T	ENSP00000470652:p.Arg362Gln					CTD-3222D19.2_ENST00000409035.1_3'UTR	p.R362Q	NM_024881.4	NP_079157.3	Q96K37	S35E1_HUMAN			6	1102	-			362					Q8NBQ2|Q96JV7	Missense_Mutation	SNP	ENST00000595753.1	37	c.1085G>A	CCDS12346.2	.	.	.	.	.	.	.	.	.	.	C	10.48	1.363387	0.24684	0.0	1.16E-4	ENSG00000127526	ENST00000409648;ENST00000421082	.	.	.	4.53	4.53	0.55603	.	0.340158	0.31199	N	0.008061	T	0.29061	0.0722	N	0.12182	0.205	0.80722	D	1	B	0.14438	0.01	B	0.06405	0.002	T	0.11717	-1.0576	9	0.08381	T	0.77	-19.4739	10.0107	0.41984	0.0:0.9075:0.0:0.0925	.	362	Q96K37	S35E1_HUMAN	Q	362;113	.	ENSP00000387152:R362Q	R	-	2	0	SLC35E1	16525638	0.477000	0.25909	0.069000	0.20011	0.495000	0.33615	1.251000	0.32862	2.079000	0.62486	0.561000	0.74099	CGG		0.587	SLC35E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326809.2	NM_024881		23	45	0	0	0	1	0	23	45					T	16664638	C	T	16664638	3	4	307	1	0	0	0	0	1	0	0	0	14584	652	23	2	151	2	SLC35E1	19	16664638	Missense_Mutation	SNP	C	TCGA-KK-A59Y-01A-11D-A26M-08		16664638	42464345	25	15747											
ZNF208	7757	broad.mit.edu	37	chr19	22157142	22157142	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aaaggctttgccacattcttTacatctgtagggtttctctc	8	16	7	10	0	3	0	0	0	3	0	5	0	3	0	1	2	2	3	1	2	3	6			TCGA-KK-A59Y-01A-11D-A26M-08	TCGA-KK-A59Y-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f150d1e-e7b6-4c8b-a4bd-2b2d5c80b088	ddec5241-9e83-475b-80aa-fc72dd813f38	g.chr19:22157142T>G	ENST00000397126.4	-	4	842	c.694A>C	c.(694-696)Aaa>Caa	p.K232Q	ZNF208_ENST00000601773.1_Intron|ZNF208_ENST00000599916.1_Intron	NM_007153.3	NP_009084.2	O43345	ZN208_HUMAN	zinc finger protein 208	232					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				CCACATTCTTTACATCTGTAG	0.383																																						ENST00000397126.4																			0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113						c.(694-696)Aaa>Caa		zinc finger protein 208							47	52	50					19																	22157142		2092	4231	6323	SO:0001583	missense	7757							g.chr19:22157142T>G	BC038199	CCDS54240.1	19p12	2013-01-08				ENSG00000160321		"Zinc fingers, C2H2-type", "-"	12999	protein-coding gene	gene with protein product	"zinc finger protein 95"	603977				9724325	Standard	NM_007153		Approved	PMIDP, ZNF95	uc021urr.1	O43345		ENST00000397126.4:c.694A>C	19.37:g.22157142T>G	ENSP00000380315:p.Lys232Gln					ZNF208_ENST00000601773.1_Intron|ZNF208_ENST00000599916.1_Intron	p.K232Q	NM_007153.3	NP_009084.2					4	842	-		all_lung(12;0.0961)|Lung NSC(12;0.103)							Missense_Mutation	SNP	ENST00000397126.4	37	c.694A>C	CCDS54240.1	.	.	.	.	.	.	.	.	.	.	T	12.20	1.867321	0.32977	.	.	ENSG00000160321	ENST00000397126;ENST00000428290	T	0.19806	2.12	2.93	-1.2	0.09554	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.23289	0.0563	.	.	.	0.09310	N	1	D	0.56521	0.976	P	0.58013	0.831	T	0.11227	-1.0596	8	0.24483	T	0.36	.	0.7892	0.01054	0.306:0.1094:0.31:0.2745	.	232	O43345	ZN208_HUMAN	Q	232	ENSP00000380315:K232Q	ENSP00000380315:K232Q	K	-	1	0	ZNF208	21948982	0.000000	0.05858	0.000000	0.03702	0.039000	0.13416	-2.813000	0.00753	-1.114000	0.02977	-0.736000	0.03550	AAA		0.383	ZNF208-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464302.1	NM_007153		15	24	0	0	0	1	0	15	24					G	22157142	T	G	22157142	3	3	307	1	0	0	0	0	1	0	0	0	17763	1763	61	5	3152	5	ZNF208	19	22157142	Missense_Mutation	SNP	T	TCGA-KK-A59Y-01A-11D-A26M-08	5492504	22157142	36971841	26	15748											
NTN5	126147	broad.mit.edu	37	chr19	49167879	49167879	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ataggctggctagggtccctCcagaacccaggttggcagta	9	8	13	11	0	0	1	0	0	0	1	2	1	2	1	3	5	1	5	3	5	4	4			TCGA-KK-A59Y-01A-11D-A26M-08	TCGA-KK-A59Y-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f150d1e-e7b6-4c8b-a4bd-2b2d5c80b088	ddec5241-9e83-475b-80aa-fc72dd813f38	g.chr19:49167879C>A	ENST00000270235.4	-	3	872	c.777G>T	c.(775-777)tgG>tgT	p.W259C	SEC1P_ENST00000430145.2_RNA	NM_145807.1	NP_665806.1	Q8WTR8	NET5_HUMAN	netrin 5	259	Laminin EGF-like 2. {ECO:0000255|PROSITE- ProRule:PRU00460}.					extracellular region (GO:0005576)				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(1)	10						TAGGGTCCCTCCAGAACCCAG	0.667																																						ENST00000270235.4																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(1)	10						c.(775-777)tgG>tgT		netrin 5							31	29	30					19																	49167879		2203	4300	6503	SO:0001583	missense	126147					extracellular region		g.chr19:49167879C>A		CCDS33068.1	19q13.33	2013-03-01			ENSG00000142233	ENSG00000142233		"Netrins"	25208	protein-coding gene	gene with protein product	"Netrin-5"					12477932	Standard	NM_145807		Approved		uc002pkb.3	Q8WTR8		ENST00000270235.4:c.777G>T	19.37:g.49167879C>A	ENSP00000270235:p.Trp259Cys					SEC1P_ENST00000430145.2_RNA	p.W259C	NM_145807.1	NP_665806.1	Q8WTR8	NET5_HUMAN			3	872	-			259			Laminin EGF-like 2.		Q8N4X9|Q8WU63	Missense_Mutation	SNP	ENST00000270235.4	37	c.777G>T	CCDS33068.1	.	.	.	.	.	.	.	.	.	.	C	15.99	2.996708	0.54147	.	.	ENSG00000142233	ENST00000270235	T	0.62364	0.03	5.12	5.12	0.69794	EGF-like, laminin (4);	0.290250	0.34932	N	0.003564	T	0.63248	0.2495	L	0.27053	0.805	0.43368	D	0.99545	D;D	0.64830	0.994;0.978	P;P	0.61722	0.893;0.645	T	0.65800	-0.6080	10	0.72032	D	0.01	.	10.0206	0.42041	0.0:0.9076:0.0:0.0924	.	259;259	Q8WTR8-2;Q8WTR8	.;NET5_HUMAN	C	259	ENSP00000270235:W259C	ENSP00000270235:W259C	W	-	3	0	NTN5	53859691	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	1.125000	0.31332	2.589000	0.87451	0.555000	0.69702	TGG		0.667	NTN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466176.1	NM_145807		3	25	1	0	0.004672	1	0.00478595	3	25					A	49167879	C	A	49167879	3	1	307	1	0	0	0	0	1	0	0	0	10703	856	30	5	712	5	NTN5	19	49167879	Missense_Mutation	SNP	C	TCGA-KK-A59Y-01A-11D-A26M-08	27010737	49167879	9961104	27	15749											
ZNF628	89887	broad.mit.edu	37	chr19	55994210	55994210	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcaaggccttccgcaacacGtcgtgcctgcgtcgccaccg	6	6	12	17	6	0	0	0	0	0	0	3	0	1	0	5	2	3	2	5	2	2	1			TCGA-KK-A59Y-01A-11D-A26M-08	TCGA-KK-A59Y-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f150d1e-e7b6-4c8b-a4bd-2b2d5c80b088	ddec5241-9e83-475b-80aa-fc72dd813f38	g.chr19:55994210G>A	ENST00000598519.1	+	3	2203	c.1650G>A	c.(1648-1650)acG>acA	p.T550T	NAT14_ENST00000205194.4_5'Flank|NAT14_ENST00000591590.1_5'Flank|NAT14_ENST00000587400.1_5'Flank|ZNF628_ENST00000391718.2_Silent_p.T546T			Q5EBL2	ZN628_HUMAN	zinc finger protein 628	550					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(4)|kidney(1)|lung(2)	7	Breast(117;0.155)		BRCA - Breast invasive adenocarcinoma(297;0.18)|LUSC - Lung squamous cell carcinoma(43;0.193)	GBM - Glioblastoma multiforme(193;0.0531)		TCCGCAACACGTCGTGCCTGC	0.682																																						ENST00000391718.2																			0				endometrium(4)|kidney(1)|lung(2)	7						c.(1636-1638)acG>acA		zinc finger protein 628							28	30	30					19																	55994210		2202	4298	6500	SO:0001819	synonymous_variant	89887					nucleus	DNA binding|zinc ion binding	g.chr19:55994210G>A	AF367249	CCDS33116.3	19q13.43	2013-01-08			ENSG00000197483	ENSG00000197483		"Zinc fingers, C2H2-type"	28054	protein-coding gene	gene with protein product	"Zinc finger expressed in Embryonal cells and Certain adult organs"	610671					Standard	NM_033113		Approved	ZEC, Zfp628	uc002qld.3	Q5EBL2	OTTHUMG00000150396	ENST00000598519.1:c.1650G>A	19.37:g.55994210G>A						ZNF628_ENST00000598519.1_Silent_p.T550T	p.T546T			Q5EBL2	ZN628_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.18)|LUSC - Lung squamous cell carcinoma(43;0.193)	GBM - Glioblastoma multiforme(193;0.0531)	3	2203	+	Breast(117;0.155)		546					Q86X34	Silent	SNP	ENST00000598519.1	37	c.1638G>A	CCDS33116.3																																																																																				0.682	ZNF628-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317934.2	XM_058964		9	16	0	0	0	1	0	9	16					A	55994210	G	A	55994210	2	1	307	1	0	0	0	0	0	0	0	1	18049	1132	40	1		1	ZNF628	19	55994210	Silent	SNP	G	TCGA-KK-A59Y-01A-11D-A26M-08	6826331	55994210	3134773	28	15750											
CHD6	84181	broad.mit.edu	37	chr20	40141606	40141607	+	In_Frame_Ins	INS	-	-	GCTTTA																															gtcctcattgtattttctgcINSgctttacttgccttcccgag																										TCGA-KK-A59Y-01A-11D-A26M-08	TCGA-KK-A59Y-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f150d1e-e7b6-4c8b-a4bd-2b2d5c80b088	ddec5241-9e83-475b-80aa-fc72dd813f38	g.chr20:40141606_40141607insGCTTTA	ENST00000373233.3	-	5	907_908	c.730_731insTAAAGC	c.(730-732)cgc>cTAAAGCgc	p.243_244insLK	CHD6_ENST00000373222.3_In_Frame_Ins_p.278_279insLK|CHD6_ENST00000309279.7_In_Frame_Ins_p.243_244insLK	NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	243	Required for DNA-dependent ATPase activity.				ATP catabolic process (GO:0006200)|chromatin modification (GO:0016568)|positive regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0036091)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|transcription cofactor binding (GO:0001221)			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				GTATTTTCTGCGCTTTACTTGC	0.49																																						ENST00000373233.3																			0				breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129						c.(730-732)cag>TAAAGCcag		chromodomain helicase DNA binding protein 6																																				SO:0001652	inframe_insertion	0				chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding	g.chr20:40141606_40141607insGCTTTA	AF525085	CCDS13317.1	20q12	2003-03-07			ENSG00000124177	ENSG00000124177			19057	protein-coding gene	gene with protein product						11889561	Standard	NM_032221		Approved	KIAA1335, FLJ22369, dJ620E11.1, CHD5, RIGB	uc002xka.1	Q8TD26	OTTHUMG00000032487	ENST00000373233.3:c.725_730dupTAAAGC	20.37:g.40141607_40141612dupGCTTTA	ENSP00000362330:p.Lys243_Arg244insLeuLys					CHD6_ENST00000373222.3_In_Frame_Ins_p.278_279ins*S|CHD6_ENST00000309279.7_In_Frame_Ins_p.243_244ins*S	p.243_244ins*S	NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN			5	907_908	-		Myeloproliferative disorder(115;0.00425)	243					Q5JYQ0|Q5TGZ9|Q5TH00|Q5TH01|Q8IZR2|Q8WTY0|Q9H4H6|Q9H6D4|Q9NTT7|Q9P2L1	In_Frame_Ins	INS	ENST00000373233.3	37	c.730_731insTAAAGC	CCDS13317.1																																																																																				0.49	CHD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079270.1			57	243						57	243	---	---	---	---	GCTTTA	40141607	-	GCTTTA	40141606	7	5	307	1	0	1	1	0	0	0	0	0	3329	768	27	0	7548	0	CHD6	20	40141606	In_Frame_Ins	INS	-	TCGA-KK-A59Y-01A-11D-A26M-08		40141606	22883914	29	15751											
PLEKHA6	22874	broad.mit.edu	37	chr1	204236639	204236639	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gcagcgatccaccaggacgaAccagcgcttgttccactgct	9	7	10	15	3	0	0	0	0	0	0	2	3	2	1	4	1	4	4	4	1	1	2			TCGA-KK-A59Z-01A-12D-A26M-08	TCGA-KK-A59Z-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fb84b2b-2982-40fd-81c4-64892a963f04	5c810244-da67-425d-8315-da8c34d6a16f	g.chr1:204236639A>G	ENST00000272203.3	-	5	560	c.244T>C	c.(244-246)Ttc>Ctc	p.F82L	PLEKHA6_ENST00000414478.1_Missense_Mutation_p.F82L	NM_014935.4	NP_055750.2	Q9Y2H5	PKHA6_HUMAN	pleckstrin homology domain containing, family A member 6	82	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.									breast(2)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_cancers(21;0.0222)|Breast(84;0.179)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.229)			ACCAGGACGAACCAGCGCTTG	0.587																																						ENST00000272203.3																			0				breast(2)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53						c.(244-246)Ttc>Ctc		pleckstrin homology domain containing, family A member 6							115	88	97					1																	204236639		2203	4300	6503	SO:0001583	missense	22874							g.chr1:204236639A>G	AB023186	CCDS1444.1	1q32	2013-01-10			ENSG00000143850	ENSG00000143850		"Pleckstrin homology (PH) domain containing"	17053	protein-coding gene	gene with protein product		607771				11001876	Standard	NM_014935		Approved	PEPP3, KIAA0969	uc001hau.4	Q9Y2H5	OTTHUMG00000036057	ENST00000272203.3:c.244T>C	1.37:g.204236639A>G	ENSP00000272203:p.Phe82Leu					PLEKHA6_ENST00000414478.1_Missense_Mutation_p.F82L	p.F82L	NM_014935.4	NP_055750.2	Q9Y2H5	PKHA6_HUMAN	KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.229)		5	560	-	all_cancers(21;0.0222)|Breast(84;0.179)		82			PH.		A7MD51|Q5VTI6	Missense_Mutation	SNP	ENST00000272203.3	37	c.244T>C	CCDS1444.1	.	.	.	.	.	.	.	.	.	.	A	20.9	4.069700	0.76301	.	.	ENSG00000143850	ENST00000272203;ENST00000414478	T;T	0.21191	2.02;2.02	5.51	5.51	0.81932	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.85682	D	0.000000	T	0.55305	0.1912	M	0.91612	3.225	0.80722	D	1	D	0.55385	0.971	D	0.72625	0.978	T	0.65315	-0.6198	10	0.62326	D	0.03	-25.6828	15.2951	0.73898	1.0:0.0:0.0:0.0	.	82	Q9Y2H5	PKHA6_HUMAN	L	82	ENSP00000272203:F82L;ENSP00000402046:F82L	ENSP00000272203:F82L	F	-	1	0	PLEKHA6	202503262	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.550000	0.82173	2.086000	0.62901	0.448000	0.29417	TTC		0.587	PLEKHA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087889.3	NM_014935		17	55	0	0	0	1	0	17	55					G	204236639	A	G	204236639	3	3	308	1	0	0	0	0	1	0	0	0	12060	43	2	4	2974	4	PLEKHA6	1	204236639	Missense_Mutation	SNP	A	TCGA-KK-A59Z-01A-12D-A26M-08		204236639	45013982	1	15752											
OR2T35	403244	broad.mit.edu	37	chr1	248801912	248801912	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggaggatgtgcgtgtaggaCacagagatgacagatagagg	14	6	17	4	1	0	4	0	1	0	3	0	8	0	7	0	4	1	1	0	4	2	2	rs1770044	byFrequency	TCGA-KK-A59Z-01A-12D-A26M-08	TCGA-KK-A59Z-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fb84b2b-2982-40fd-81c4-64892a963f04	5c810244-da67-425d-8315-da8c34d6a16f	g.chr1:248801912C>G	ENST00000317450.3	-	1	647	c.648G>C	c.(646-648)gtG>gtC	p.V216V		NM_001001827.1	NP_001001827.1	Q8NGX2	O2T35_HUMAN	olfactory receptor, family 2, subfamily T, member 35	216						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V216V(1)		endometrium(1)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|skin(1)	6	all_cancers(71;2.04e-05)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.237)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GCGTGTAGGACACAGAGATGA	0.542																																						ENST00000317450.3																			1	Substitution - coding silent(1)	p.V216V(1)	endometrium(1)	endometrium(1)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|skin(1)	6						c.(646-648)gtG>gtC		olfactory receptor, family 2, subfamily T, member 35							132	107	115					1																	248801912		2057	4250	6307	SO:0001819	synonymous_variant	403244				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248801912C>G	BK004475	CCDS31123.1	1q44	2012-08-09			ENSG00000177151	ENSG00000177151		"GPCR / Class A : Olfactory receptors"	31257	protein-coding gene	gene with protein product							Standard	NM_001001827		Approved		uc001ies.1	Q8NGX2	OTTHUMG00000040380	ENST00000317450.3:c.648G>C	1.37:g.248801912C>G							p.V216V	NM_001001827.1	NP_001001827.1	Q8NGX2	O2T35_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	647	-	all_cancers(71;2.04e-05)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.237)	216					Q6IEY7	Silent	SNP	ENST00000317450.3	37	c.648G>C	CCDS31123.1																																																																																				0.542	OR2T35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097130.1	NM_001001827		3	20	0	0	0	1	0	3	20					G	248801912	C	G	248801912	2	3	308	1	0	0	0	0	0	0	0	1	11026	465	17	5		5	OR2T35	1	248801912	Silent	SNP	C	TCGA-KK-A59Z-01A-12D-A26M-08	44565273	248801912	448709	2	15753											
LRRFIP1	9208	broad.mit.edu	37	chr2	238668784	238668784	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctcaataatgttggataccaAggtcctaccaagatgacaaa	16	9	7	9	0	1	2	1	1	0	1	2	3	2	3	3	2	2	1	3	2	7	4			TCGA-KK-A59Z-01A-12D-A26M-08	TCGA-KK-A59Z-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fb84b2b-2982-40fd-81c4-64892a963f04	5c810244-da67-425d-8315-da8c34d6a16f	g.chr2:238668784A>G	ENST00000392000.4	+	10	942	c.825A>G	c.(823-825)caA>caG	p.Q275Q	LRRFIP1_ENST00000289175.6_Silent_p.Q219Q|LRRFIP1_ENST00000308482.9_Silent_p.Q465Q|LRRFIP1_ENST00000244815.5_Silent_p.Q251Q	NM_001137552.1	NP_001131024.1	Q32MZ4	LRRF1_HUMAN	leucine rich repeat (in FLII) interacting protein 1	275			Q -> R (in dbSNP:rs3213869).		innate immune response (GO:0045087)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of type I interferon production (GO:0032481)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|protein homodimerization activity (GO:0042803)			NS(1)|breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	29		Breast(86;0.00257)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)		Epithelial(121;9.75e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.01e-10)|Kidney(56;4.85e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.31e-07)|BRCA - Breast invasive adenocarcinoma(100;0.000151)|Lung(119;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0325)|COAD - Colon adenocarcinoma(134;0.228)		TTGGATACCAAGGTCCTACCA	0.433																																						ENST00000244815.5																			0				NS(1)|breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	29						c.(751-753)caA>caG		leucine rich repeat (in FLII) interacting protein 1							112	106	108					2																	238668784		2203	4300	6503	SO:0001819	synonymous_variant	9208				negative regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|cytoskeleton|nucleus	DNA binding|double-stranded RNA binding|protein binding	g.chr2:238668784A>G	AJ223075	CCDS2521.1, CCDS46551.1, CCDS46552.1, CCDS46553.1	2q37.3	2010-09-30			ENSG00000124831	ENSG00000124831			6702	protein-coding gene	gene with protein product	"GC-binding factor 2"	603256				9705290, 9525888, 16199883	Standard	NM_004735		Approved	FLAP-1, FLIIAP1, TRIP, GCF-2, HUFI-1	uc002vxe.3	Q32MZ4	OTTHUMG00000133339	ENST00000392000.4:c.825A>G	2.37:g.238668784A>G						LRRFIP1_ENST00000289175.6_Silent_p.Q219Q|LRRFIP1_ENST00000392000.4_Silent_p.Q275Q|LRRFIP1_ENST00000308482.9_Silent_p.Q465Q	p.Q251Q	NM_004735.3	NP_004726.2	Q32MZ4	LRRF1_HUMAN		Epithelial(121;9.75e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.01e-10)|Kidney(56;4.85e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.31e-07)|BRCA - Breast invasive adenocarcinoma(100;0.000151)|Lung(119;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0325)|COAD - Colon adenocarcinoma(134;0.228)	9	993	+		Breast(86;0.00257)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)	275					E9PGZ2|O75766|O75799|Q32MZ5|Q53T49|Q6PKG2|Q9Y607	Silent	SNP	ENST00000392000.4	37	c.753A>G	CCDS46552.1																																																																																				0.433	LRRFIP1-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000317198.1	NM_004735		20	45	0	0	0	1	0	20	45					G	238668784	A	G	238668784	2	3	308	1	0	0	0	0	0	0	0	1	9027	69	3	4		4	LRRFIP1	2	238668784	Silent	SNP	A	TCGA-KK-A59Z-01A-12D-A26M-08		238668784	4530589	3	15754											
METTL6	131965	broad.mit.edu	37	chr3	15467811	15467811	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tacctctctacatgatcttaGctcctcaaactctctggtgg	8	14	6	13	0	4	1	1	1	3	0	7	1	5	1	2	2	4	1	2	2	4	3			TCGA-KK-A59Z-01A-12D-A26M-08	TCGA-KK-A59Z-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fb84b2b-2982-40fd-81c4-64892a963f04	5c810244-da67-425d-8315-da8c34d6a16f	g.chr3:15467811G>C	ENST00000443029.1	-	2	448	c.208C>G	c.(208-210)Cta>Gta	p.L70V	METTL6_ENST00000450816.2_Missense_Mutation_p.L70V|METTL6_ENST00000383789.5_Missense_Mutation_p.L70V|METTL6_ENST00000383790.3_Missense_Mutation_p.L70V|EAF1_ENST00000396842.2_5'Flank|EAF1_ENST00000432764.2_5'Flank			Q8TCB7	METL6_HUMAN	methyltransferase like 6	70							methyltransferase activity (GO:0008168)			endometrium(1)|kidney(1)|large_intestine(9)|lung(3)|prostate(1)	15						CATGATCTTAGCTCCTCAAAC	0.398																																						ENST00000443029.1																			0				endometrium(1)|kidney(1)|large_intestine(9)|lung(3)|prostate(1)	15						c.(208-210)Cta>Gta		methyltransferase like 6							165	151	156					3																	15467811		1887	4119	6006	SO:0001583	missense	131965						methyltransferase activity	g.chr3:15467811G>C	AK057791	CCDS43056.1	3p25.1	2005-11-02			ENSG00000206562	ENSG00000206562			28343	protein-coding gene	gene with protein product						12477932	Standard	NM_152396		Approved	MGC24132	uc003bzs.1	Q8TCB7	OTTHUMG00000156431	ENST00000443029.1:c.208C>G	3.37:g.15467811G>C	ENSP00000407613:p.Leu70Val					METTL6_ENST00000450816.2_Missense_Mutation_p.L70V|METTL6_ENST00000383790.3_Missense_Mutation_p.L70V|METTL6_ENST00000383789.5_Missense_Mutation_p.L70V	p.L70V			Q8TCB7	METL6_HUMAN			2	448	-			70					Q96LU4	Missense_Mutation	SNP	ENST00000443029.1	37	c.208C>G	CCDS43056.1	.	.	.	.	.	.	.	.	.	.	G	16.60	3.168843	0.57584	.	.	ENSG00000206562	ENST00000383790;ENST00000450816;ENST00000383789	T;T;T	0.75367	-0.93;-0.93;-0.93	5.4	3.59	0.41128	.	0.000000	0.85682	D	0.000000	D	0.85340	0.5674	M	0.84948	2.725	0.53688	D	0.999978	D;P;P	0.65815	0.995;0.918;0.866	D;P;P	0.68765	0.96;0.835;0.566	D	0.85690	0.1306	10	0.87932	D	0	-9.2044	10.6555	0.45673	0.2181:0.0:0.7819:0.0	.	70;70;70	B4DDX3;Q8TCB7-2;Q8TCB7	.;.;METL6_HUMAN	V	70	ENSP00000373300:L70V;ENSP00000410726:L70V;ENSP00000373299:L70V	ENSP00000373299:L70V	L	-	1	2	METTL6	15442815	1.000000	0.71417	0.997000	0.53966	0.996000	0.88848	2.740000	0.47418	0.625000	0.30304	0.555000	0.69702	CTA		0.398	METTL6-007	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346373.1	NM_152396		9	51	0	0	0	1	0	9	51					C	15467811	G	C	15467811	3	2	308	1	0	0	0	0	1	0	0	0	9504	962	34	5	666	5	METTL6	3	15467811	Missense_Mutation	SNP	G	TCGA-KK-A59Z-01A-12D-A26M-08		15467811	182554619	4	15755											
SCN10A	6336	broad.mit.edu	37	chr3	38755487	38755487	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agaaagagcccgcagtggccGcagagcgcgaagggttcgaa	12	3	16	10	5	0	3	0	0	0	3	1	5	0	3	2	2	2	3	2	2	3	1			TCGA-KK-A59Z-01A-12D-A26M-08	TCGA-KK-A59Z-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fb84b2b-2982-40fd-81c4-64892a963f04	5c810244-da67-425d-8315-da8c34d6a16f	g.chr3:38755487G>A	ENST00000449082.2	-	21	3765	c.3766C>T	c.(3766-3768)Cgg>Tgg	p.R1256W		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	1256					AV node cell to bundle of His cell communication (GO:0086067)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of cardiac muscle contraction (GO:0055117)|regulation of heart rate (GO:0002027)|regulation of ion transmembrane transport (GO:0034765)|sensory perception (GO:0007600)|sensory perception of pain (GO:0019233)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	C-fiber (GO:0044299)|extracellular vesicular exosome (GO:0070062)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)	p.R1256W(1)		NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cinchocaine(DB00527)|Cocaine(DB00907)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Lacosamide(DB06218)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Orphenadrine(DB01173)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)|Valproic Acid(DB00313)	CGCAGTGGCCGCAGAGCGCGA	0.527																																						ENST00000449082.2																			1	Substitution - Missense(1)	p.R1256W(1)	prostate(1)	NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150						c.(3766-3768)Cgg>Tgg		sodium channel, voltage-gated, type X, alpha subunit	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)						82	84	84					3																	38755487		2203	4300	6503	SO:0001583	missense	6336				sensory perception	voltage-gated sodium channel complex		g.chr3:38755487G>A	AF117907	CCDS33736.1	3p22.2	2012-02-26	2007-01-23		ENSG00000185313	ENSG00000185313		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10582	protein-coding gene	gene with protein product		604427	"sodium channel, voltage-gated, type X, alpha polypeptide"			9839820, 10198179, 16382098	Standard	NM_006514		Approved	Nav1.8, hPN3, SNS, PN3	uc003ciq.3	Q9Y5Y9	OTTHUMG00000048245	ENST00000449082.2:c.3766C>T	3.37:g.38755487G>A	ENSP00000390600:p.Arg1256Trp						p.R1256W	NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	21	3765	-			1256					A6NDQ1	Missense_Mutation	SNP	ENST00000449082.2	37	c.3766C>T	CCDS33736.1	.	.	.	.	.	.	.	.	.	.	G	15.96	2.986336	0.53934	.	.	ENSG00000185313	ENST00000449082	D	0.99652	-6.3	4.23	0.849	0.18972	Ion transport (1);	0.067156	0.56097	D	0.000023	D	0.99825	0.9922	H	0.99988	5.28	0.44816	D	0.997827	D	0.76494	0.999	D	0.63283	0.913	D	0.97155	0.9834	10	0.87932	D	0	.	11.893	0.52641	0.0:0.0:0.2746:0.7254	.	1256	Q9Y5Y9	SCNAA_HUMAN	W	1256	ENSP00000390600:R1256W	ENSP00000390600:R1256W	R	-	1	2	SCN10A	38730491	1.000000	0.71417	0.998000	0.56505	0.668000	0.39293	0.863000	0.27913	0.352000	0.24053	0.411000	0.27672	CGG		0.527	SCN10A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109745.3	NM_006514		60	88	0	0	0	1	0	60	88					A	38755487	G	A	38755487	3	1	308	1	0	0	0	0	1	0	0	0	13912	1086	38	1	2132	1	SCN10A	3	38755487	Missense_Mutation	SNP	G	TCGA-KK-A59Z-01A-12D-A26M-08	23287676	38755487	159266943	5	15756											
C3orf17	25871	broad.mit.edu	37	chr3	112732806	112732806	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gaccacttacttacttggaaGaaaacaactcaaacaggtct	16	9	6	10	0	2	1	1	0	1	1	2	3	2	2	1	2	5	0	1	2	7	3			TCGA-KK-A59Z-01A-12D-A26M-08	TCGA-KK-A59Z-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fb84b2b-2982-40fd-81c4-64892a963f04	5c810244-da67-425d-8315-da8c34d6a16f	g.chr3:112732806G>A	ENST00000314400.5	-	3	526	c.335C>T	c.(334-336)tCt>tTt	p.S112F	C3orf17_ENST00000472762.1_5'Flank|C3orf17_ENST00000393857.2_5'UTR|C3orf17_ENST00000383675.2_Missense_Mutation_p.S112F	NM_015412.3	NP_056227.2	Q6NW34	CC017_HUMAN	chromosome 3 open reading frame 17	112					negative regulation of neuron differentiation (GO:0045665)|positive regulation of Notch signaling pathway (GO:0045747)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(1)|kidney(2)|lung(6)|prostate(2)|skin(1)	13						TTACTTGGAAGAAAACAACTC	0.408																																						ENST00000314400.5																			0				central_nervous_system(1)|endometrium(1)|kidney(2)|lung(6)|prostate(2)|skin(1)	13						c.(334-336)tCt>tTt		chromosome 3 open reading frame 17							219	216	217					3																	112732806		2203	4300	6503	SO:0001583	missense	25871					integral to membrane		g.chr3:112732806G>A	AL117573	CCDS33824.1	3q13.2	2009-11-06			ENSG00000163608	ENSG00000163608			24496	protein-coding gene	gene with protein product						12477932	Standard	NR_027794		Approved	DKFZP434F2021, NET17	uc003dzr.3	Q6NW34	OTTHUMG00000159286	ENST00000314400.5:c.335C>T	3.37:g.112732806G>A	ENSP00000320251:p.Ser112Phe					C3orf17_ENST00000393857.2_5'UTR|C3orf17_ENST00000383675.2_Missense_Mutation_p.S112F	p.S112F	NM_015412.3	NP_056227.2	Q6NW34	CC017_HUMAN			3	526	-			112					D3DN69|Q68DM6|Q9H7U0|Q9UFM4	Missense_Mutation	SNP	ENST00000314400.5	37	c.335C>T	CCDS33824.1	.	.	.	.	.	.	.	.	.	.	G	4.567	0.105412	0.08731	.	.	ENSG00000163608	ENST00000314400;ENST00000383675;ENST00000472166	T;T;T	0.47869	0.83;0.83;0.83	4.5	2.67	0.31697	.	0.151474	0.64402	D	0.000012	T	0.32852	0.0843	L	0.38531	1.155	0.80722	D	1	B;B;B	0.20671	0.018;0.013;0.047	B;B;B	0.19946	0.027;0.01;0.022	T	0.10894	-1.0610	10	0.40728	T	0.16	-10.1463	5.6455	0.17586	0.0989:0.0:0.7087:0.1924	.	15;112;112	E7EN80;Q6NW34-2;Q6NW34	.;.;CC017_HUMAN	F	112;112;37	ENSP00000320251:S112F;ENSP00000373173:S112F;ENSP00000417613:S37F	ENSP00000320251:S112F	S	-	2	0	C3orf17	114215496	1.000000	0.71417	0.961000	0.40146	0.664000	0.39144	3.446000	0.52928	0.807000	0.34208	-0.254000	0.11334	TCT		0.408	C3orf17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354405.3	NM_015412		84	133	0	0	0	1	0	84	133					A	112732806	G	A	112732806	3	1	308	1	0	0	0	0	1	0	0	0	2210	942	33	3	1396	3	C3orf17	3	112732806	Missense_Mutation	SNP	G	TCGA-KK-A59Z-01A-12D-A26M-08	73977319	112732806	85289624	6	15757											
TF	7018	broad.mit.edu	37	chr3	133465321	133465321	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagccctgctggtctgcgccGtcctgggtgagtgcgggcac	3	8	17	13	3	1	1	0	1	1	0	2	2	2	1	3	3	4	2	3	3	0	0			TCGA-KK-A59Z-01A-12D-A26M-08	TCGA-KK-A59Z-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fb84b2b-2982-40fd-81c4-64892a963f04	5c810244-da67-425d-8315-da8c34d6a16f	g.chr3:133465321G>A	ENST00000402696.3	+	1	522	c.37G>A	c.(37-39)Gtc>Atc	p.V13I	TFP1_ENST00000460564.1_RNA|TF_ENST00000264998.3_5'UTR	NM_001063.3	NP_001054	P02787	TRFE_HUMAN	transferrin	13					blood coagulation (GO:0007596)|cellular iron ion homeostasis (GO:0006879)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|retina homeostasis (GO:0001895)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|basal part of cell (GO:0045178)|basal plasma membrane (GO:0009925)|blood microparticle (GO:0072562)|cell surface (GO:0009986)|coated pit (GO:0005905)|cytoplasmic membrane-bounded vesicle (GO:0016023)|early endosome (GO:0005769)|endocytic vesicle (GO:0030139)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|late endosome (GO:0005770)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)|secretory granule lumen (GO:0034774)|vesicle (GO:0031982)	ferric iron binding (GO:0008199)			NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(7)|large_intestine(13)|liver(2)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49					Aluminium(DB01370)|Bismuth Subsalicylate(DB01294)|Gallium nitrate(DB05260)|Iron Dextran(DB00893)	GGTCTGCGCCGTCCTGGGTGA	0.736																																						ENST00000402696.3																			0				NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(7)|large_intestine(13)|liver(2)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49						c.(37-39)Gtc>Atc		transferrin	Aluminium(DB01370)|Bismuth(DB01402)|Iron Dextran(DB00893)						14	15	15					3																	133465321		2194	4287	6481	SO:0001583	missense	7018				cellular iron ion homeostasis|platelet activation|platelet degranulation|transferrin transport|transmembrane transport	apical plasma membrane|basal plasma membrane|coated pit|early endosome|endocytic vesicle|endosome membrane|extracellular region|late endosome|perinuclear region of cytoplasm|recycling endosome|stored secretory granule	ferric iron binding	g.chr3:133465321G>A		CCDS3080.1	3q21	2012-10-02			ENSG00000091513	ENSG00000091513			11740	protein-coding gene	gene with protein product		190000				6585826	Standard	NM_001063		Approved	PRO1557, PRO2086	uc003epv.2	P02787	OTTHUMG00000150356	ENST00000402696.3:c.37G>A	3.37:g.133465321G>A	ENSP00000385834:p.Val13Ile					TF_ENST00000264998.3_5'UTR|TFP1_ENST00000460564.1_RNA	p.V13I	NM_001063.3	NP_001054.1	P02787	TRFE_HUMAN			1	522	+			13					O43890|Q1HBA5|Q9NQB8|Q9UHV0	Missense_Mutation	SNP	ENST00000402696.3	37	c.37G>A	CCDS3080.1	.	.	.	.	.	.	.	.	.	.	G	9.593	1.126657	0.20959	.	.	ENSG00000091513	ENST00000402696	T	0.02121	4.44	4.67	-1.77	0.07982	.	0.929072	0.09359	N	0.812960	T	0.01730	0.0055	L	0.35723	1.085	0.23232	N	0.998075	B	0.21147	0.052	B	0.08055	0.003	T	0.49163	-0.8968	10	0.16896	T	0.51	-2.3118	3.4146	0.07371	0.2674:0.0:0.2879:0.4447	.	13	P02787	TRFE_HUMAN	I	13	ENSP00000385834:V13I	ENSP00000385834:V13I	V	+	1	0	TF	134948011	0.003000	0.15002	0.213000	0.23690	0.691000	0.40173	-0.148000	0.10219	-0.231000	0.09825	0.561000	0.74099	GTC		0.736	TF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317775.1	NM_001063		3	25	0	0	0	1	0	3	25					A	133465321	G	A	133465321	3	1	308	1	0	0	0	0	1	0	0	0	15782	1145	40	1	39	1	TF	3	133465321	Missense_Mutation	SNP	G	TCGA-KK-A59Z-01A-12D-A26M-08	20732515	133465321	64557109	7	15758											
TFDP2	7029	broad.mit.edu	37	chr3	141671514	141671514	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttgctaaggccacttctgcAtccaagcataacccttggtt	9	12	8	12	0	1	0	0	0	1	0	2	0	2	0	3	2	4	5	3	2	3	6			TCGA-KK-A59Z-01A-12D-A26M-08	TCGA-KK-A59Z-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fb84b2b-2982-40fd-81c4-64892a963f04	5c810244-da67-425d-8315-da8c34d6a16f	g.chr3:141671514A>T	ENST00000489671.1	-	13	1612	c.1182T>A	c.(1180-1182)gaT>gaA	p.D394E	TFDP2_ENST00000479040.1_Missense_Mutation_p.D333E|TFDP2_ENST00000317104.7_Missense_Mutation_p.D318E|TFDP2_ENST00000499676.2_Missense_Mutation_p.D334E|TFDP2_ENST00000397991.4_Missense_Mutation_p.D366E|TFDP2_ENST00000477292.1_Missense_Mutation_p.D258E|TFDP2_ENST00000495310.1_Missense_Mutation_p.D297E|TFDP2_ENST00000486111.1_Missense_Mutation_p.D334E|TFDP2_ENST00000467072.1_Missense_Mutation_p.D334E|TFDP2_ENST00000310282.6_Missense_Mutation_p.D334E			Q14188	TFDP2_HUMAN	transcription factor Dp-2 (E2F dimerization partner 2)	394					gene expression (GO:0010467)|heart development (GO:0007507)|mitotic cell cycle (GO:0000278)|Notch signaling pathway (GO:0007219)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|protein domain specific binding (GO:0019904)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription cofactor activity (GO:0003712)|transcription factor binding (GO:0008134)			kidney(1)|upper_aerodigestive_tract(2)	3						CCACTTCTGCATCCAAGCATA	0.483																																						ENST00000499676.2																			0				kidney(1)|upper_aerodigestive_tract(2)	3						c.(1000-1002)gaT>gaA		transcription factor Dp-2 (E2F dimerization partner 2)							50	53	52					3																	141671514		1963	4143	6106	SO:0001583	missense	7029				cell cycle	transcription factor complex	DNA binding|protein domain specific binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity|transcription factor binding	g.chr3:141671514A>T	U18422	CCDS43159.1, CCDS54647.1, CCDS54648.1, CCDS54649.1, CCDS54650.1	3q23	2011-05-24			ENSG00000114126	ENSG00000114126			11751	protein-coding gene	gene with protein product		602160				7784053, 9027491	Standard	NM_001178138		Approved	Dp-2	uc003eun.4	Q14188	OTTHUMG00000164975	ENST00000489671.1:c.1182T>A	3.37:g.141671514A>T	ENSP00000420616:p.Asp394Glu					TFDP2_ENST00000486111.1_Missense_Mutation_p.D334E|TFDP2_ENST00000495310.1_Missense_Mutation_p.D297E|TFDP2_ENST00000489671.1_Missense_Mutation_p.D394E|TFDP2_ENST00000317104.7_Missense_Mutation_p.D318E|TFDP2_ENST00000310282.6_Missense_Mutation_p.D334E|TFDP2_ENST00000479040.1_Missense_Mutation_p.D333E|TFDP2_ENST00000397991.4_Missense_Mutation_p.D366E|TFDP2_ENST00000467072.1_Missense_Mutation_p.D334E|TFDP2_ENST00000477292.1_Missense_Mutation_p.D258E	p.D334E	NM_001178139.1	NP_001171610.1	Q14188	TFDP2_HUMAN			13	1673	-			394					B7Z8C8|B7Z8L5|D3DNG1|E9PFC3|F8WAI2|Q13331|Q14187|Q6R754|Q8WU88|Q9UG28	Missense_Mutation	SNP	ENST00000489671.1	37	c.1002T>A	CCDS54650.1	.	.	.	.	.	.	.	.	.	.	A	15.77	2.932857	0.52866	.	.	ENSG00000114126	ENST00000499676;ENST00000489671;ENST00000486111;ENST00000477292;ENST00000495310;ENST00000467072;ENST00000317104;ENST00000310282;ENST00000479040;ENST00000397991	T;T;T;T;T;T;T;T;T;T	0.50277	1.73;1.69;1.73;0.77;0.75;1.73;1.74;1.73;1.73;1.66	6.08	-0.659	0.11424	.	0.066813	0.64402	D	0.000010	T	0.26231	0.0640	N	0.19112	0.55	0.33703	D	0.61486	B;B;B	0.17465	0.001;0.013;0.022	B;B;B	0.17433	0.002;0.008;0.018	T	0.08617	-1.0713	10	0.36615	T	0.2	-9.9845	6.3399	0.21316	0.5399:0.127:0.3332:0.0	.	297;394;334	B7Z8L5;Q14188;Q14188-5	.;TFDP2_HUMAN;.	E	334;394;334;258;297;334;318;334;333;366	ENSP00000439782:D334E;ENSP00000420616:D394E;ENSP00000420599:D334E;ENSP00000418971:D258E;ENSP00000419036:D297E;ENSP00000418590:D334E;ENSP00000315668:D318E;ENSP00000309622:D334E;ENSP00000417585:D333E;ENSP00000381078:D366E	ENSP00000309622:D334E	D	-	3	2	TFDP2	143154204	1.000000	0.71417	0.997000	0.53966	0.993000	0.82548	2.891000	0.48617	-0.034000	0.13713	0.482000	0.46254	GAT		0.483	TFDP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000353294.4	NM_006286		4	53	0	0	0	1	0	4	53					T	141671514	A	T	141671514	3	4	308	1	0	0	0	0	1	0	0	0	15795	214	8	5	162	5	TFDP2	3	141671514	Missense_Mutation	SNP	A	TCGA-KK-A59Z-01A-12D-A26M-08	8206193	141671514	56350916	8	15759											
POU4F2	5458	broad.mit.edu	37	chr4	147561671	147561671	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcccacaataatatgatcgCgctcaaacccatcctgcagg	12	8	7	14	2	1	1	1	1	0	0	4	1	3	1	3	1	2	2	3	1	4	2			TCGA-KK-A59Z-01A-12D-A26M-08	TCGA-KK-A59Z-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fb84b2b-2982-40fd-81c4-64892a963f04	5c810244-da67-425d-8315-da8c34d6a16f	g.chr4:147561671C>G	ENST00000281321.3	+	2	1189	c.941C>G	c.(940-942)gCg>gGg	p.A314G	AC093887.1_ENST00000584185.1_RNA	NM_004575.2	NP_004566.2	Q12837	PO4F2_HUMAN	POU class 4 homeobox 2	314	POU-specific. {ECO:0000255|PROSITE- ProRule:PRU00530}.				axon extension (GO:0048675)|axon guidance (GO:0007411)|intracellular estrogen receptor signaling pathway (GO:0030520)|MAPK cascade (GO:0000165)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuromuscular process controlling balance (GO:0050885)|neuron differentiation (GO:0030182)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|retina development in camera-type eye (GO:0060041)|retinal ganglion cell axon guidance (GO:0031290)|sensory perception of sound (GO:0007605)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	33	all_hematologic(180;0.151)					AATATGATCGCGCTCAAACCC	0.602																																						ENST00000281321.3																			0				NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	33						c.(940-942)gCg>gGg		POU class 4 homeobox 2							76	79	78					4																	147561671		2203	4300	6503	SO:0001583	missense	5458				estrogen receptor signaling pathway|MAPKKK cascade|negative regulation of transcription from RNA polymerase II promoter	nuclear speck	RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription	g.chr4:147561671C>G	U06233	CCDS34074.1	4q31.22	2011-06-20	2007-07-13					"Homeoboxes / POU class"	9219	protein-coding gene	gene with protein product		113725	"POU domain, class 4, transcription factor 2", "POU domain class 4, transcription factor 2"	BRN3B		8332509	Standard	NM_004575		Approved	Brn-3b	uc003ikv.3	Q12837		ENST00000281321.3:c.941C>G	4.37:g.147561671C>G	ENSP00000281321:p.Ala314Gly						p.A314G	NM_004575.2	NP_004566.2	Q12837	PO4F2_HUMAN			2	1189	+	all_hematologic(180;0.151)		314			POU-specific.		B1PJR6|B2RC84|Q13883|Q14987	Missense_Mutation	SNP	ENST00000281321.3	37	c.941C>G	CCDS34074.1	.	.	.	.	.	.	.	.	.	.	C	18.33	3.601147	0.66332	.	.	ENSG00000151615	ENST00000281321	D	0.83755	-1.76	5.37	5.37	0.77165	POU-specific (3);Lambda repressor-like, DNA-binding (2);POU (1);	0.000000	0.85682	D	0.000000	D	0.91768	0.7396	M	0.80982	2.52	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.92491	0.6000	10	0.72032	D	0.01	.	19.1135	0.93328	0.0:1.0:0.0:0.0	.	314	Q12837	PO4F2_HUMAN	G	314	ENSP00000281321:A314G	ENSP00000281321:A314G	A	+	2	0	POU4F2	147781121	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	7.796000	0.85898	2.528000	0.85240	0.561000	0.74099	GCG		0.602	POU4F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367020.1	NM_004575		18	71	0	0	0	1	0	18	71					G	147561671	C	G	147561671	3	3	308	1	0	0	0	0	1	0	0	0	12279	768	27	5	947	5	POU4F2	4	147561671	Missense_Mutation	SNP	C	TCGA-KK-A59Z-01A-12D-A26M-08		147561671	43592605	9	15760											
PCDHGA9	56107	broad.mit.edu	37	chr5	140783165	140783165	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	acctggtcctcacggcctcgGatggcggcgagccgcgtcgc	4	6	15	16	7	1	0	1	0	0	0	4	2	2	1	4	5	1	0	4	5	0	0			TCGA-KK-A59Z-01A-12D-A26M-08	TCGA-KK-A59Z-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fb84b2b-2982-40fd-81c4-64892a963f04	5c810244-da67-425d-8315-da8c34d6a16f	g.chr5:140783165G>T	ENST00000573521.1	+	1	646	c.646G>T	c.(646-648)Gat>Tat	p.D216Y	PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA4_ENST00000571252.1_Intron	NM_018921.2|NM_032089.1	NP_061744.1|NP_114478.1	Q9Y5G4	PCDG9_HUMAN	protocadherin gamma subfamily A, 9	216	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CACGGCCTCGGATGGCGGCGA	0.597																																						ENST00000573521.1																			0				endometrium(1)|kidney(1)|lung(3)	5						c.(646-648)Gat>Tat									27	32	30					5																	140783165		2045	4187	6232	SO:0001583	missense	0							g.chr5:140783165G>T	AF152516	CCDS58981.1, CCDS75341.1	5q31	2010-01-26						"Cadherins / Protocadherins : Clustered"	8707	other	protocadherin		606296				10380929	Standard	NM_018921		Approved	PCDH-GAMMA-A9		Q9Y5G4		ENST00000573521.1:c.646G>T	5.37:g.140783165G>T	ENSP00000460274:p.Asp216Tyr					PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron	p.D216Y	NM_018921.2|NM_032089.1	NP_061744.1|NP_114478.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	646	+								A2RU65|Q9Y5C9	Missense_Mutation	SNP	ENST00000573521.1	37	c.646G>T	CCDS58981.1																																																																																				0.597	PCDHGA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437105.1	NM_018921		10	52	1	0	7.48243e-07	1	8.058e-07	10	52					T	140783165	G	T	140783165	3	4	308	1	0	0	0	0	1	0	0	0	11561	1174	41	5	648	5	PCDHGA9	5	140783165	Missense_Mutation	SNP	G	TCGA-KK-A59Z-01A-12D-A26M-08		140783165	40132095	10	15761											
CAMK2A	815	broad.mit.edu	37	chr5	149602570	149602570	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actggggcaggacggagggcGccccagatctgtggaagtgg	8	5	19	9	2	1	1	0	0	1	1	1	4	1	4	2	7	0	1	2	7	1	0			TCGA-KK-A59Z-01A-12D-A26M-08	TCGA-KK-A59Z-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fb84b2b-2982-40fd-81c4-64892a963f04	5c810244-da67-425d-8315-da8c34d6a16f	g.chr5:149602570G>A	ENST00000348628.6	-	17	2080	c.1415C>T	c.(1414-1416)gCg>gTg	p.A472V	CAMK2A_ENST00000398376.3_Missense_Mutation_p.A483V|CAMK2A_ENST00000351010.6_5'UTR	NM_015981.3|NM_171825.2	NP_057065.2|NP_741960.1	Q9UQM7	KCC2A_HUMAN	calcium/calmodulin-dependent protein kinase II alpha	472					calcium ion transport (GO:0006816)|cytokine-mediated signaling pathway (GO:0019221)|G1/S transition of mitotic cell cycle (GO:0000082)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of neuronal synaptic plasticity (GO:0048168)|regulation of neurotransmitter secretion (GO:0046928)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|synapse (GO:0045202)	ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|calmodulin-dependent protein kinase activity (GO:0004683)|kinase activity (GO:0016301)|protein homodimerization activity (GO:0042803)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|skin(1)|stomach(1)	15		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GACGGAGGGCGCCCCAGATCT	0.642																																						ENST00000348628.6																			0				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|skin(1)|stomach(1)	15						c.(1414-1416)gCg>gTg		calcium/calmodulin-dependent protein kinase II alpha							69	80	76					5																	149602570		2147	4274	6421	SO:0001583	missense	815				interferon-gamma-mediated signaling pathway|positive regulation of NF-kappaB transcription factor activity|synaptic transmission	cell junction|cytosol|endocytic vesicle membrane|nucleoplasm|presynaptic membrane	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity	g.chr5:149602570G>A	AB023185	CCDS43386.1, CCDS43387.1	5q32	2013-09-20	2008-10-30		ENSG00000070808	ENSG00000070808	2.7.11.17		1460	protein-coding gene	gene with protein product	"CaM-kinase II alpha chain", "calcium/calmodulin-dependent protein kinase II alpha-B subunit", "CaM kinase II alpha subunit", "CaMK-II alpha subunit", "calcium/calmodulin-dependent protein kinase type II alpha chain"	114078	"calcium/calmodulin-dependent protein kinase (CaM kinase) II alpha"	CAMKA		10231032, 3475713	Standard	NM_015981		Approved	KIAA0968, CaMKIINalpha	uc003lrt.2	Q9UQM7	OTTHUMG00000134281	ENST00000348628.6:c.1415C>T	5.37:g.149602570G>A	ENSP00000261793:p.Ala472Val					CAMK2A_ENST00000398376.3_Missense_Mutation_p.A483V|CAMK2A_ENST00000351010.6_5'UTR	p.A472V	NM_015981.3|NM_171825.2	NP_057065.2|NP_741960.1	Q9UQM7	KCC2A_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		17	2080	-		all_hematologic(541;0.224)	472					Q9UL21|Q9Y2H4|Q9Y352	Missense_Mutation	SNP	ENST00000348628.6	37	c.1415C>T	CCDS43386.1	.	.	.	.	.	.	.	.	.	.	G	34	5.314976	0.95655	.	.	ENSG00000070808	ENST00000348628;ENST00000398376	T;T	0.46451	0.87;0.87	5.15	5.15	0.70609	Calcium/calmodulin-dependent protein kinase II, association-domain (1);	0.078678	0.52532	U	0.000074	T	0.51024	0.1650	L	0.49126	1.545	0.50632	D	0.999886	P;B;P	0.47910	0.902;0.078;0.902	P;B;P	0.49999	0.628;0.151;0.628	T	0.53802	-0.8387	10	0.62326	D	0.03	.	18.6945	0.91596	0.0:0.0:1.0:0.0	.	472;483;472	Q9UQM7;A8K161;Q7LDD5	KCC2A_HUMAN;.;.	V	472;483	ENSP00000261793:A472V;ENSP00000381412:A483V	ENSP00000261793:A472V	A	-	2	0	CAMK2A	149582763	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.476000	0.97823	2.419000	0.82065	0.555000	0.69702	GCG		0.642	CAMK2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258869.2	NM_015981		62	135	0	0	0	1	0	62	135					A	149602570	G	A	149602570	3	1	308	1	0	0	0	0	1	0	0	0	2599	1087	38	1	29	1	CAMK2A	5	149602570	Missense_Mutation	SNP	G	TCGA-KK-A59Z-01A-12D-A26M-08	8819405	149602570	31312690	11	15762											
NFKBIL1	4795	broad.mit.edu	37	chr6	31526109	31526110	+	Frame_Shift_Del	DEL	GG	GG	-																															gaagagcaccccagaggagcGgggaggggcagcctctggcg																								rs199905519		TCGA-KK-A59Z-01A-12D-A26M-08	TCGA-KK-A59Z-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fb84b2b-2982-40fd-81c4-64892a963f04	5c810244-da67-425d-8315-da8c34d6a16f	g.chr6:31526109_31526110delGG	ENST00000376148.4	+	4	981_982	c.867_868delGG	c.(865-870)gcggggfs	p.G290fs	NFKBIL1_ENST00000376145.4_Frame_Shift_Del_p.G275fs	NM_005007.3	NP_004998.3	Q9UBC1	IKBL1_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor-like 1	290					cellular response to lipopolysaccharide (GO:0071222)|cytoplasmic sequestering of transcription factor (GO:0042994)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|negative regulation of lipopolysaccharide-mediated signaling pathway (GO:0031665)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|negative regulation of tumor necrosis factor production (GO:0032720)	cytosol (GO:0005829)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)				breast(1)|endometrium(2)|large_intestine(1)|lung(2)|skin(1)	7						CCAGAGGAGCGGGGAGGGGCAG	0.723																																						ENST00000376148.4																			0				breast(1)|endometrium(2)|large_intestine(1)|lung(2)|skin(1)	7						c.(865-870)gcggfs		nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor-like 1																																				SO:0001589	frameshift_variant	4795				cytoplasmic sequestering of transcription factor		protein binding	g.chr6:31526109_31526110delGG	X77909	CCDS4700.1, CCDS47399.1, CCDS47400.1	6p21.3	2010-02-17			ENSG00000204498	ENSG00000204498			7800	protein-coding gene	gene with protein product		601022		NFKBIL		8081366	Standard	NM_005007		Approved	IKBL	uc003nub.3	Q9UBC1	OTTHUMG00000031038	ENST00000376148.4:c.867_868delGG	6.37:g.31526111_31526112delGG	ENSP00000365318:p.Gly290fs					NFKBIL1_ENST00000376145.4_Frame_Shift_Del_p.AG274fs	p.AG289fs	NM_005007.3	NP_004998.3	Q9UBC1	IKBL1_HUMAN			4	981_982	+			289					A6NL91|B4DUW1|Q14625|Q5HYU4|Q5RJ72|Q5ST96|Q5STV4|Q5STV5|Q9UBX4	Frame_Shift_Del	DEL	ENST00000376148.4	37	c.867_868delGG	CCDS4700.1																																																																																				0.723	NFKBIL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076036.3	NM_005007		2	4						2	4	---	---	---	---	-	31526110	GG	-	31526109	7	5	308	1	0	1	0	1	0	0	0	0	10381	1103	39	0	881	0	NFKBIL1	6	31526109	Frame_Shift_Del	DEL	GG	TCGA-KK-A59Z-01A-12D-A26M-08		31526109	139588958	12	15763											
SYNE1	23345	broad.mit.edu	37	chr6	152646275	152646275	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	ttccaggatcttctcctggtCctgggccacagctcgaaggc	6	10	11	14	1	2	0	0	0	2	0	6	2	4	1	4	4	1	1	4	4	1	2			TCGA-KK-A59Z-01A-12D-A26M-08	TCGA-KK-A59Z-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fb84b2b-2982-40fd-81c4-64892a963f04	5c810244-da67-425d-8315-da8c34d6a16f	g.chr6:152646275C>G	ENST00000367255.5	-	81	16202	c.15601G>C	c.(15601-15603)Gac>Cac	p.D5201H	SYNE1_ENST00000341594.5_Missense_Mutation_p.D4894H|SYNE1_ENST00000265368.4_Missense_Mutation_p.D5201H|SYNE1_ENST00000423061.1_Missense_Mutation_p.D5130H|SYNE1_ENST00000448038.1_Missense_Mutation_p.D5130H	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	5201					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TTCTCCTGGTCCTGGGCCACA	0.537										HNSCC(10;0.0054)																												ENST00000367255.5																			0				NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524						c.(15601-15603)Gac>Cac		spectrin repeat containing, nuclear envelope 1							186	157	167					6																	152646275		2203	4300	6503	SO:0001583	missense	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152646275C>G	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"myocyte nuclear envelope protein 1", "nuclear envelope spectrin repeat-1"	608441	"chromosome 6 open reading frame 98"	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.15601G>C	6.37:g.152646275C>G	ENSP00000356224:p.Asp5201His	HNSCC(10;0.0054)				SYNE1_ENST00000423061.1_Missense_Mutation_p.D5130H|SYNE1_ENST00000448038.1_Missense_Mutation_p.D5130H|SYNE1_ENST00000341594.5_Missense_Mutation_p.D4894H|SYNE1_ENST00000265368.4_Missense_Mutation_p.D5201H	p.D5201H	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	81	16202	-		Ovarian(120;0.0955)	5201					E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	c.15601G>C	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	C	21.3	4.129915	0.77549	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594	T;T;T;T;T	0.36878	1.23;1.23;1.23;1.23;1.3	5.81	5.81	0.92471	.	0.095023	0.45867	D	0.000335	T	0.48447	0.1500	M	0.63428	1.95	0.80722	D	1	D;P;P;P	0.59357	0.985;0.943;0.943;0.928	P;P;P;P	0.58970	0.849;0.547;0.547;0.662	T	0.36817	-0.9732	10	0.49607	T	0.09	.	20.0912	0.97820	0.0:1.0:0.0:0.0	.	5201;5201;5201;5130	Q8NF91-7;Q8NF91;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.	H	5201;5130;5201;5130;4894	ENSP00000356224:D5201H;ENSP00000396024:D5130H;ENSP00000265368:D5201H;ENSP00000390975:D5130H;ENSP00000341887:D4894H	ENSP00000265368:D5201H	D	-	1	0	SYNE1	152687968	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	7.442000	0.80503	2.746000	0.94184	0.591000	0.81541	GAC		0.537	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		78	79	0	0	0	1	0	78	79					G	152646275	C	G	152646275	3	3	308	1	0	0	0	0	1	0	0	0	15442	855	30	5	11129	5	SYNE1	6	152646275	Missense_Mutation	SNP	C	TCGA-KK-A59Z-01A-12D-A26M-08	121120166	152646275	18468792	13	15764											
EPDR1	54749	broad.mit.edu	37	chr7	37960746	37960746	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acagccgcgccctgctctccTacgacgggctcaaccagcgc	7	5	10	19	5	2	0	1	0	1	0	3	1	2	0	4	1	5	2	4	1	2	1			TCGA-KK-A59Z-01A-12D-A26M-08	TCGA-KK-A59Z-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fb84b2b-2982-40fd-81c4-64892a963f04	5c810244-da67-425d-8315-da8c34d6a16f	g.chr7:37960746T>A	ENST00000199448.4	+	1	584	c.205T>A	c.(205-207)Tac>Aac	p.Y69N	EPDR1_ENST00000559325.1_Missense_Mutation_p.Y189N|EPDR1_ENST00000476620.1_Intron|EPDR1_ENST00000425345.1_5'Flank|EPDR1_ENST00000423717.1_Missense_Mutation_p.Y69N	NM_017549.4	NP_060019.2	Q9UM22	EPDR1_HUMAN	ependymin related 1	69					cell-matrix adhesion (GO:0007160)	extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	calcium ion binding (GO:0005509)			breast(1)|endometrium(1)|large_intestine(2)|lung(9)|ovary(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	22						CCTGCTCTCCTACGACGGGCT	0.706																																						ENST00000199448.4																			0				breast(1)|endometrium(1)|large_intestine(2)|lung(9)|ovary(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	22						c.(205-207)Tac>Aac		ependymin related 1							13	14	14					7																	37960746		2098	4117	6215	SO:0001583	missense	54749				cell-matrix adhesion	extracellular region	calcium ion binding	g.chr7:37960746T>A	BC018299	CCDS5454.1, CCDS5454.2, CCDS59051.1, CCDS59052.1	7p14.1	2013-07-31	2013-07-31		ENSG00000086289	ENSG00000086289			17572	protein-coding gene	gene with protein product			"ependymin related protein 1 (zebrafish)"			11749721, 11248421	Standard	NM_001242946		Approved	MERP-1, MERP1, UCC1, EPDR	uc003tfp.4	Q9UM22	OTTHUMG00000102187	ENST00000199448.4:c.205T>A	7.37:g.37960746T>A	ENSP00000199448:p.Tyr69Asn					EPDR1_ENST00000423717.1_Missense_Mutation_p.Y69N|EPDR1_ENST00000559325.1_Missense_Mutation_p.Y189N|EPDR1_ENST00000476620.1_Intron	p.Y69N	NM_017549.4	NP_060019.2	Q9UM22	EPDR1_HUMAN			1	584	+			69					A8K4C0|C9JYS3|Q06BL0|Q99M77	Missense_Mutation	SNP	ENST00000199448.4	37	c.205T>A	CCDS5454.2	.	.	.	.	.	.	.	.	.	.	T	22.9	4.350150	0.82132	.	.	ENSG00000086289	ENST00000199448;ENST00000423717	.	.	.	4.04	4.04	0.47022	.	0.000000	0.85682	D	0.000000	T	0.76140	0.3946	M	0.76727	2.345	0.80722	D	1	D	0.89917	1.0	D	0.76575	0.988	T	0.78947	-0.2003	9	0.87932	D	0	-16.4635	10.8623	0.46833	0.0:0.0:0.0:1.0	.	189	A4D1W8	.	N	189;163	.	ENSP00000199448:Y189N	Y	+	1	0	EPDR1	37927271	1.000000	0.71417	1.000000	0.80357	0.923000	0.55619	4.821000	0.62679	1.807000	0.52817	0.260000	0.18958	TAC		0.706	EPDR1-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000220037.3	NM_017549		14	38	0	0	0	1	0	14	38					A	37960746	T	A	37960746	3	1	308	1	0	0	0	0	1	0	0	0	5163	1522	53	5	567	5	EPDR1	7	37960746	Missense_Mutation	SNP	T	TCGA-KK-A59Z-01A-12D-A26M-08		37960746	121177917	14	15765											
TARP	6966	broad.mit.edu	37	chr7	38299789	38299789	+	RNA	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaggagcaggaggaggtacAtgtaatatgcagaggtgttt	12	10	16	3	0	0	2	0	1	0	1	0	5	0	5	0	5	3	5	0	5	3	4	rs117590081	byFrequency	TCGA-KK-A59Z-01A-12D-A26M-08	TCGA-KK-A59Z-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fb84b2b-2982-40fd-81c4-64892a963f04	5c810244-da67-425d-8315-da8c34d6a16f	g.chr7:38299789A>G	ENST00000443402.2	-	0	420					NM_001003799.1|NM_001003806.1	NP_001003799.1|NP_001003806.1	P0CF51	TRGC1_HUMAN	T cell receptor gamma constant 1							integral component of membrane (GO:0016021)											GAGGAGGTACATGTAATATGC	0.423																																						ENST00000443402.2																			0																				183	204	197					7																	38299789		1995	4208	6203			0							g.chr7:38299789A>G	M14996		7p14	2012-02-07			ENSG00000211689	ENSG00000211689		"T cell receptors / TRG locus"	12275	other	T cell receptor gene	"T-cell receptor, gamma, constant region C1"	186970		TCRGC1		2879283	Standard	NG_001336		Approved	C1		P0CF51	OTTHUMG00000155219		7.37:g.38299789A>G								NM_001003799.1|NM_001003806.1	NP_001003799.1|NP_001003806.1					0	420	-									RNA	SNP	ENST00000443402.2	37																																																																																						0.423	TRGC1-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_principal	TR_C_gene	TR_C_gene	OTTHUMT00000338825.3	NG_001336		3	21	0	0	0	1	0	3	21					G	38299789	A	G	38299789	1	3	308	0	1	0	0	0	0	0	0	0	15555	217	8	4		4	TARP	7	38299789	RNA	SNP	A	TCGA-KK-A59Z-01A-12D-A26M-08	339043	38299789	120838874	15	15766											
URGCP	55665	broad.mit.edu	37	chr7	43917132	43917133	+	Frame_Shift_Ins	INS	-	-	A																															gccaagcctgggaagtgggcINSaaaacgcctctggcctgccg																										TCGA-KK-A59Z-01A-12D-A26M-08	TCGA-KK-A59Z-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fb84b2b-2982-40fd-81c4-64892a963f04	5c810244-da67-425d-8315-da8c34d6a16f	g.chr7:43917132_43917133insA	ENST00000453200.1	-	6	2422_2423	c.1929_1930insT	c.(1927-1932)tttgccfs	p.A644fs	URGCP_ENST00000497914.1_5'UTR|URGCP-MRPS24_ENST00000603700.1_Intron|URGCP_ENST00000223341.7_Frame_Shift_Ins_p.A601fs|URGCP_ENST00000402306.3_Frame_Shift_Ins_p.A635fs|URGCP_ENST00000443736.1_Frame_Shift_Ins_p.A601fs|URGCP_ENST00000336086.6_Frame_Shift_Ins_p.A601fs|URGCP_ENST00000447717.3_Frame_Shift_Ins_p.A601fs			Q8TCY9	URGCP_HUMAN	upregulator of cell proliferation	644					cell cycle (GO:0007049)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	GTP binding (GO:0005525)			breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|liver(1)|lung(13)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						GGGAAGTGGGCAAAACGCCTCT	0.629																																						ENST00000336086.6																			0				breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|liver(1)|lung(13)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						c.(1798-1803)ttcccafs		upregulator of cell proliferation																																				SO:0001589	frameshift_variant	55665				cell cycle	centrosome|nucleus	GTP binding	g.chr7:43917132_43917133insA		CCDS43572.1, CCDS47577.1, CCDS47578.1	7p13	2010-02-17			ENSG00000106608	ENSG00000106608			30890	protein-coding gene	gene with protein product	"up-regulated gene 4"	610337				10819331, 12082552	Standard	NM_017920		Approved	URG4, KIAA1507, FLJ20654, DKFZp666G166, DKFZp686O0457	uc003tiw.3	Q8TCY9	OTTHUMG00000155245	ENST00000453200.1:c.1930dupT	7.37:g.43917136_43917136dupA	ENSP00000396918:p.Ala644fs					URGCP_ENST00000497914.1_5'UTR|URGCP_ENST00000223341.7_Frame_Shift_Ins_p.FP600fs|URGCP_ENST00000453200.1_Frame_Shift_Ins_p.FP643fs|URGCP_ENST00000443736.1_Frame_Shift_Ins_p.FP600fs|URGCP_ENST00000402306.3_Frame_Shift_Ins_p.FP634fs|RP5-1165K10.1_ENST00000603700.1_Intron|URGCP_ENST00000447717.3_Frame_Shift_Ins_p.FP600fs	p.FP600fs			Q8TCY9	URGCP_HUMAN			4	4036_4037	-			643					E9PFF6|Q658M4|Q68DH6|Q6MZZ5|Q8WV98|Q9NWR7|Q9P221	Frame_Shift_Ins	INS	ENST00000453200.1	37	c.1800_1801insT	CCDS47578.1																																																																																				0.629	URGCP-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000338995.1	NM_001077664		14	86						14	86	---	---	---	---	A	43917133	-	A	43917132	7	5	308	1	0	1	1	0	0	0	0	0	17023	710	25	0	869	0	URGCP	7	43917132	Frame_Shift_Ins	INS	-	TCGA-KK-A59Z-01A-12D-A26M-08	5617343	43917132	115221531	16	15767											
CCDC136	64753	broad.mit.edu	37	chr7	128450335	128450335	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gatccacgaagagctgcgacGtttcaaagagtctcatttcc	11	10	9	11	3	2	2	2	0	1	2	5	5	4	2	2	0	2	2	2	0	2	2			TCGA-KK-A59Z-01A-12D-A26M-08	TCGA-KK-A59Z-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fb84b2b-2982-40fd-81c4-64892a963f04	5c810244-da67-425d-8315-da8c34d6a16f	g.chr7:128450335G>A	ENST00000297788.4	+	12	2310	c.1943G>A	c.(1942-1944)cGt>cAt	p.R648H	CCDC136_ENST00000378685.4_Intron|CCDC136_ENST00000487361.1_Intron|CCDC136_ENST00000464832.1_Intron	NM_022742.4	NP_073579	Q96JN2	CC136_HUMAN	coiled-coil domain containing 136	648						integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)				breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)	24						GAGCTGCGACGTTTCAAAGAG	0.433																																						ENST00000297788.4																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)	24						c.(1942-1944)cGt>cAt		coiled-coil domain containing 136							68	65	66					7																	128450335		1945	4146	6091	SO:0001583	missense	64753					integral to membrane	protein binding	g.chr7:128450335G>A		CCDS47704.1, CCDS56510.1	7q33	2007-08-01			ENSG00000128596	ENSG00000128596			22225	protein-coding gene	gene with protein product		611902				15112360	Standard	NM_022742		Approved	KIAA1793, NAG6, DKFZP434G156	uc003vnv.2	Q96JN2	OTTHUMG00000158310	ENST00000297788.4:c.1943G>A	7.37:g.128450335G>A	ENSP00000297788:p.Arg648His					CCDC136_ENST00000378685.4_Intron|CCDC136_ENST00000487361.1_Intron|CCDC136_ENST00000464832.1_Intron	p.R648H	NM_022742.4	NP_073579.4	Q96JN2	CC136_HUMAN			12	2310	+			648					A4D1K1|A7MCY7|A8MYA7|Q6ZVK7|Q9H8M3|Q9UFE1	Missense_Mutation	SNP	ENST00000297788.4	37	c.1943G>A	CCDS47704.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	8.040|8.040	0.763572|0.763572	0.15914|0.15914	.|.	.|.	ENSG00000128596|ENSG00000128596	ENST00000297788;ENST00000397697;ENST00000320524;ENST00000464672|ENST00000494552	T;T|.	0.29655|.	1.56;1.56|.	5.96|5.96	-11.9|-11.9	0.00025|0.00025	.|.	2.356960|.	0.01268|.	N|.	0.009375|.	T|T	0.09423|0.09423	0.0232|0.0232	N|N	0.02539|0.02539	-0.55|-0.55	0.09310|0.09310	N|N	1|1	B;B|.	0.02656|.	0.0;0.0|.	B;B|.	0.01281|.	0.0;0.0|.	T|T	0.10613|0.10613	-1.0622|-1.0622	10|5	0.23302|.	T|.	0.38|.	6.9503|6.9503	5.7642|5.7642	0.18217|0.18217	0.5825:0.0671:0.2288:0.1215|0.5825:0.0671:0.2288:0.1215	.|.	648;648|.	Q96JN2-2;Q96JN2|.	.;CC136_HUMAN|.	H|I	648;648;648;239|525	ENSP00000297788:R648H;ENSP00000417991:R239H|.	ENSP00000297788:R648H|.	R|V	+|+	2|1	0|0	CCDC136|CCDC136	128237571|128237571	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.000000|0.000000	0.00434|0.00434	-2.963000|-2.963000	0.00671|0.00671	-2.302000|-2.302000	0.00657|0.00657	-1.598000|-1.598000	0.00824|0.00824	CGT|GTT		0.433	CCDC136-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000350641.1	NM_022742		8	46	0	0	0	1	0	8	46					A	128450335	G	A	128450335	3	1	308	1	0	0	0	0	1	0	0	0	2770	1145	40	1	1989	1	CCDC136	7	128450335	Missense_Mutation	SNP	G	TCGA-KK-A59Z-01A-12D-A26M-08	84533203	128450335	30688328	17	15768											
SLC7A2	6542	broad.mit.edu	37	chr8	17418005	17418005	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcccttctgccaacacagcaGtcagcttctctcgtgagctt	7	12	7	15	1	3	1	1	1	2	0	6	1	4	1	2	0	5	3	2	0	1	3			TCGA-KK-A59Z-01A-12D-A26M-08	TCGA-KK-A59Z-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fb84b2b-2982-40fd-81c4-64892a963f04	5c810244-da67-425d-8315-da8c34d6a16f	g.chr8:17418005G>A	ENST00000494857.1	+	10	1685	c.1467G>A	c.(1465-1467)caG>caA	p.Q489Q	SLC7A2_ENST00000470360.1_Silent_p.Q528Q|SLC7A2_ENST00000398090.3_Silent_p.Q528Q|SLC7A2_ENST00000522656.1_Silent_p.Q489Q|SLC7A2_ENST00000004531.10_Silent_p.Q529Q	NM_001008539.3	NP_001008539.3	P52569	CTR2_HUMAN	solute carrier family 7 (cationic amino acid transporter, y+ system), member 2	489					amino acid transport (GO:0006865)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|macrophage activation (GO:0042116)|nitric oxide biosynthetic process (GO:0006809)|nitric oxide production involved in inflammatory response (GO:0002537)|regulation of inflammatory response (GO:0050727)|regulation of macrophage activation (GO:0043030)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	basic amino acid transmembrane transporter activity (GO:0015174)|high-affinity arginine transmembrane transporter activity (GO:0005289)|L-lysine transmembrane transporter activity (GO:0015189)|L-ornithine transmembrane transporter activity (GO:0000064)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|stomach(1)	25				Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216)	L-Lysine(DB00123)|L-Ornithine(DB00129)	CAACACAGCAGTCAGCTTCTC	0.532																																						ENST00000470360.1																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|stomach(1)	25						c.(1582-1584)caG>caA		solute carrier family 7 (cationic amino acid transporter, y+ system), member 2	L-Lysine(DB00123)|L-Ornithine(DB00129)						156	140	145					8																	17418005		2203	4300	6503	SO:0001819	synonymous_variant	6542				cellular amino acid metabolic process|ion transport	cytoplasm|integral to plasma membrane|membrane fraction	basic amino acid transmembrane transporter activity	g.chr8:17418005G>A	D29990	CCDS6002.2, CCDS34852.1, CCDS55203.1	8p22	2013-05-22			ENSG00000003989	ENSG00000003989		"Solute carriers"	11060	protein-coding gene	gene with protein product		601872		ATRC2		8954799	Standard	NM_001164771		Approved	CAT-2, HCAT2	uc011kye.2	P52569	OTTHUMG00000130819	ENST00000494857.1:c.1467G>A	8.37:g.17418005G>A						SLC7A2_ENST00000398090.3_Silent_p.Q528Q|SLC7A2_ENST00000494857.1_Silent_p.Q489Q|SLC7A2_ENST00000522656.1_Silent_p.Q489Q|SLC7A2_ENST00000004531.10_Silent_p.Q529Q	p.Q528Q			P52569	CTR2_HUMAN		Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216)	11	1701	+			489					B7ZL54|O15291|O15292|Q14CQ6|Q6NSZ7|Q86TC6	Silent	SNP	ENST00000494857.1	37	c.1584G>A	CCDS34852.1																																																																																				0.532	SLC7A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253367.3	NM_003046		59	42	0	0	0	1	0	59	42					A	17418005	G	A	17418005	2	1	308	1	0	0	0	0	0	0	0	1	14697	1020	36	3		3	SLC7A2	8	17418005	Silent	SNP	G	TCGA-KK-A59Z-01A-12D-A26M-08		17418005	128946017	18	15769											
XPO7	23039	broad.mit.edu	37	chr8	21829421	21829421	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctgcatcattggtgtcacaaTtttatctcagctaaccaatg	11	14	6	10	0	3	0	3	0	1	0	4	0	3	0	1	1	3	2	1	1	4	4			TCGA-KK-A59Z-01A-12D-A26M-08	TCGA-KK-A59Z-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fb84b2b-2982-40fd-81c4-64892a963f04	5c810244-da67-425d-8315-da8c34d6a16f	g.chr8:21829421T>G	ENST00000252512.9	+	5	561	c.461T>G	c.(460-462)aTt>aGt	p.I154S	XPO7_ENST00000434536.1_Missense_Mutation_p.I154S|XPO7_ENST00000518017.1_3'UTR|XPO7_ENST00000433566.4_Missense_Mutation_p.I155S	NM_015024.4	NP_055839.3	Q9UIA9	XPO7_HUMAN	exportin 7	154					mRNA transport (GO:0051028)|protein export from nucleus (GO:0006611)	cytoplasm (GO:0005737)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	nuclear export signal receptor activity (GO:0005049)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(2)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				Colorectal(74;0.0187)|COAD - Colon adenocarcinoma(73;0.0724)		GGTGTCACAATTTTATCTCAG	0.353																																						ENST00000434536.1																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(2)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(460-462)aTt>aGt		exportin 7							198	189	192					8																	21829421		1895	4120	6015	SO:0001583	missense	23039				mRNA transport|protein export from nucleus|transmembrane transport	cytoplasm|nuclear pore	nuclear export signal receptor activity|protein transporter activity	g.chr8:21829421T>G	AF064729	CCDS47818.1	8p21	2011-04-13	2003-03-11	2003-03-14	ENSG00000130227	ENSG00000130227		"Exportins"	14108	protein-coding gene	gene with protein product		606140	"RAN binding protein 16"	RANBP16		11024021, 9872452	Standard	NM_015024		Approved	KIAA0745	uc003xaa.4	Q9UIA9	OTTHUMG00000163789	ENST00000252512.9:c.461T>G	8.37:g.21829421T>G	ENSP00000252512:p.Ile154Ser					XPO7_ENST00000518017.1_3'UTR|XPO7_ENST00000252512.9_Missense_Mutation_p.I154S|XPO7_ENST00000433566.4_Missense_Mutation_p.I155S	p.I154S			Q9UIA9	XPO7_HUMAN		Colorectal(74;0.0187)|COAD - Colon adenocarcinoma(73;0.0724)	5	563	+			154					O94846|Q6PJK9|Q8NEK7	Missense_Mutation	SNP	ENST00000252512.9	37	c.461T>G	CCDS47818.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	18.90|18.90	3.721873|3.721873	0.68959|0.68959	.|.	.|.	ENSG00000130227|ENSG00000130227	ENST00000521303|ENST00000434536;ENST00000252512;ENST00000433566	.|T;T;T	.|0.71341	.|-0.56;-0.56;-0.56	5.64|5.64	5.64|5.64	0.86602|0.86602	.|Armadillo-like helical (1);Armadillo-type fold (1);	.|0.055778	.|0.64402	.|D	.|0.000001	D|D	0.83640|0.83640	0.5298|0.5298	M|M	0.90082|0.90082	3.085|3.085	0.80722|0.80722	D|D	1|1	.|P;P;P	.|0.49696	.|0.843;0.927;0.778	.|B;P;P	.|0.53689	.|0.375;0.732;0.732	D|D	0.87350|0.87350	0.2337|0.2337	5|10	.|0.87932	.|D	.|0	-13.4666|-13.4666	15.8025|15.8025	0.78463|0.78463	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|155;154;154	.|E7ESC6;E9PEN8;Q9UIA9	.|.;.;XPO7_HUMAN	V|S	159|154;154;155	.|ENSP00000404853:I154S;ENSP00000252512:I154S;ENSP00000410249:I155S	.|ENSP00000252512:I154S	F|I	+|+	1|2	0|0	XPO7|XPO7	21885367|21885367	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	7.939000|7.939000	0.87685|0.87685	2.276000|2.276000	0.75962|0.75962	0.533000|0.533000	0.62120|0.62120	TTT|ATT		0.353	XPO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375494.1	NM_015024		42	30	0	0	0	1	0	42	30					G	21829421	T	G	21829421	3	3	308	1	0	0	0	0	1	0	0	0	17446	1493	52	5	504	5	XPO7	8	21829421	Missense_Mutation	SNP	T	TCGA-KK-A59Z-01A-12D-A26M-08	4411416	21829421	124534601	19	15770											
ADAM28	10863	broad.mit.edu	37	chr8	24157535	24157558	+	In_Frame_Del	DEL	ATCCTATAAGACTTCATCCACTGC	ATCCTATAAGACTTCATCCACTGC	-																															gaagaagtatgaagtggtttAtcctataagacttcatccac																								rs369332654|rs375587519		TCGA-KK-A59Z-01A-12D-A26M-08	TCGA-KK-A59Z-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fb84b2b-2982-40fd-81c4-64892a963f04	5c810244-da67-425d-8315-da8c34d6a16f	g.chr8:24157535_24157558delATCCTATAAGACTTCATCCACTGC	ENST00000265769.4	+	2	205_228	c.95_118delATCCTATAAGACTTCATCCACTGC	c.(94-120)tatcctataagacttcatccactgcat>tat	p.PIRLHPLH33del	ADAM28_ENST00000397649.3_5'UTR|RP11-624C23.1_ENST00000523578.1_RNA|RP11-624C23.1_ENST00000519689.1_RNA|RP11-624C23.1_ENST00000518988.1_RNA|RP11-624C23.1_ENST00000523700.1_RNA|ADAM28_ENST00000540823.1_5'UTR|ADAM28_ENST00000437154.2_In_Frame_Del_p.PIRLHPLH33del	NM_014265.4	NP_055080.2	Q9UKQ2	ADA28_HUMAN	ADAM metallopeptidase domain 28	33					spermatogenesis (GO:0007283)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.R35I(1)		central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Prostate(55;0.0959)		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)		GAAGTGGTTTATCCTATAAGACTTCATCCACTGCATAAAAGAGA	0.362																																					NSCLC(193;488 2149 22258 34798 40734)	ENST00000265769.4																			1	Substitution - Missense(1)	p.R35I(1)	large_intestine(1)	central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						c.(94-120)tat>t		ADAM metallopeptidase domain 28																																				SO:0001651	inframe_deletion	10863				proteolysis|spermatogenesis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|zinc ion binding	g.chr8:24157535_24157558delATCCTATAAGACTTCATCCACTGC	AJ242015	CCDS34865.1, CCDS47830.1	8p21.2	2005-11-29	2005-08-18		ENSG00000042980	ENSG00000042980		"ADAM metallopeptidase domain containing"	206	protein-coding gene	gene with protein product		606188	"a disintegrin and metalloproteinase domain 28"				Standard	XM_005273378		Approved	eMDCII, MDC-Lm, MDC-Ls, ADAM23	uc003xdy.3	Q9UKQ2	OTTHUMG00000163780	ENST00000265769.4:c.95_118delATCCTATAAGACTTCATCCACTGC	8.37:g.24157535_24157558delATCCTATAAGACTTCATCCACTGC	ENSP00000265769:p.Pro33_His40del					RP11-624C23.1_ENST00000523700.1_RNA|RP11-624C23.1_ENST00000518988.1_RNA|ADAM28_ENST00000437154.2_In_Frame_Del_p.YPIRLHPLH32del|ADAM28_ENST00000397649.3_5'UTR|ADAM28_ENST00000540823.1_5'UTR	p.YPIRLHPLH32del	NM_014265.4	NP_055080.2	Q9UKQ2	ADA28_HUMAN		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)	2	205_228	+		Prostate(55;0.0959)	32					B2RMV5|Q9Y339|Q9Y3S0	In_Frame_Del	DEL	ENST00000265769.4	37	c.95_118delATCCTATAAGACTTCATCCACTGC	CCDS34865.1																																																																																				0.362	ADAM28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375441.2	NM_021778		7	53						7	53	---	---	---	---	-	24157558	ATCCTATAAGACTTCATCCACTGC	-	24157535	7	5	308	1	0	1	0	1	0	0	0	0	246	449	16	0	101	0	ADAM28	8	24157535	In_Frame_Del	DEL	ATCCTATAAGACTTCATCCACTGC	TCGA-KK-A59Z-01A-12D-A26M-08	2328114	24157535	122206487	20	15771											
CUL2	8453	broad.mit.edu	37	chr10	35318439	35318439	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tagaacatatatttgaaaacTaattcccaaatctattactg	17	14	3	7	0	1	2	0	1	1	1	2	2	2	2	1	0	3	0	1	0	10	8			TCGA-KK-A59Z-01A-12D-A26M-08	TCGA-KK-A59Z-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fb84b2b-2982-40fd-81c4-64892a963f04	5c810244-da67-425d-8315-da8c34d6a16f	g.chr10:35318439T>G	ENST00000374748.1	-	16	1829	c.1516A>C	c.(1516-1518)Agt>Cgt	p.S506R	CUL2_ENST00000374749.3_Missense_Mutation_p.S506R|CUL2_ENST00000537177.1_Missense_Mutation_p.S525R|CUL2_ENST00000374742.1_Missense_Mutation_p.S506R|CUL2_ENST00000602371.1_Missense_Mutation_p.S449R|CUL2_ENST00000374751.3_Missense_Mutation_p.S506R|CUL2_ENST00000374746.1_Missense_Mutation_p.S506R			Q13617	CUL2_HUMAN	cullin 2	506					cell cycle arrest (GO:0007050)|cellular response to hypoxia (GO:0071456)|G1/S transition of mitotic cell cycle (GO:0000082)|intrinsic apoptotic signaling pathway (GO:0097193)|negative regulation of cell proliferation (GO:0008285)|protein ubiquitination (GO:0016567)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	Cul2-RING ubiquitin ligase complex (GO:0031462)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|VCB complex (GO:0030891)	ubiquitin protein ligase binding (GO:0031625)			breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|prostate(2)|skin(1)|urinary_tract(2)	31						ATTTGAAAACTAATTCCCAAA	0.318																																						ENST00000374748.1																			0				breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|prostate(2)|skin(1)|urinary_tract(2)	31						c.(1516-1518)Agt>Cgt		cullin 2							75	71	72					10																	35318439		2203	4300	6503	SO:0001583	missense	8453				cell cycle arrest|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex	ubiquitin protein ligase binding	g.chr10:35318439T>G	U83410	CCDS7179.1, CCDS73086.1	10p11.2	2011-05-24			ENSG00000108094	ENSG00000108094			2552	protein-coding gene	gene with protein product		603135				8681378	Standard	NM_003591		Approved		uc021ppa.1	Q13617	OTTHUMG00000017950	ENST00000374748.1:c.1516A>C	10.37:g.35318439T>G	ENSP00000363880:p.Ser506Arg					CUL2_ENST00000374742.1_Missense_Mutation_p.S506R|CUL2_ENST00000374746.1_Missense_Mutation_p.S506R|CUL2_ENST00000374749.3_Missense_Mutation_p.S506R|CUL2_ENST00000537177.1_Missense_Mutation_p.S525R|CUL2_ENST00000602371.1_Missense_Mutation_p.S449R|CUL2_ENST00000374751.3_Missense_Mutation_p.S506R	p.S506R			Q13617	CUL2_HUMAN			16	1829	-			506					B3KT95|B7Z6K8|D3DRY6|G3V1S2|O00200|Q5T2B6|Q9UNF9	Missense_Mutation	SNP	ENST00000374748.1	37	c.1516A>C	CCDS7179.1	.	.	.	.	.	.	.	.	.	.	T	22.8	4.338582	0.81911	.	.	ENSG00000108094	ENST00000374751;ENST00000374748;ENST00000374746;ENST00000374749;ENST00000374754;ENST00000374742;ENST00000537177	T;T;T;T;T;T	0.73789	-0.78;-0.78;-0.78;-0.78;-0.78;-0.78	6.06	6.06	0.98353	Cullin, N-terminal (1);Cullin homology (3);	0.000000	0.85682	D	0.000000	T	0.75925	0.3916	L	0.32530	0.975	0.80722	D	1	P;P;P	0.47034	0.889;0.778;0.814	P;P;P	0.52554	0.641;0.577;0.702	T	0.78198	-0.2297	10	0.66056	D	0.02	-22.4513	16.6245	0.84952	0.0:0.0:0.0:1.0	.	506;525;506	Q5T2B5;G3V1S2;Q13617	.;.;CUL2_HUMAN	R	506;506;506;506;449;506;525	ENSP00000363883:S506R;ENSP00000363880:S506R;ENSP00000363878:S506R;ENSP00000363881:S506R;ENSP00000363874:S506R;ENSP00000444856:S525R	ENSP00000363874:S506R	S	-	1	0	CUL2	35358445	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.282000	0.72639	2.323000	0.78572	0.528000	0.53228	AGT		0.318	CUL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047538.1	NM_003591		8	15	0	0	0	1	0	8	15					G	35318439	T	G	35318439	3	3	308	1	0	0	0	0	1	0	0	0	4055	1522	53	5	749	5	CUL2	10	35318439	Missense_Mutation	SNP	T	TCGA-KK-A59Z-01A-12D-A26M-08		35318439	100216308	21	15772											
CYP2C8	1558	broad.mit.edu	37	chr10	96827440	96827440	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtgaacacaggaccatagacTtttgagaactgggaaaggaa	16	7	12	6	0	0	3	0	2	0	2	0	7	0	6	1	3	2	0	1	3	5	3			TCGA-KK-A59Z-01A-12D-A26M-08	TCGA-KK-A59Z-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fb84b2b-2982-40fd-81c4-64892a963f04	5c810244-da67-425d-8315-da8c34d6a16f	g.chr10:96827440T>G	ENST00000371270.3	-	2	271	c.177A>C	c.(175-177)aaA>aaC	p.K59N	CYP2C8_ENST00000535898.1_Intron|CYP2C8_ENST00000539050.1_5'UTR	NM_000770.3|NM_001198853.1|NM_001198855.1	NP_000761.3|NP_001185782.1|NP_001185784.1	P10632	CP2C8_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 8	59					arachidonic acid metabolic process (GO:0019369)|drug metabolic process (GO:0017144)|epoxygenase P450 pathway (GO:0019373)|exogenous drug catabolic process (GO:0042738)|omega-hydroxylase P450 pathway (GO:0097267)|organic acid metabolic process (GO:0006082)|oxidation-reduction process (GO:0055114)|oxidative demethylation (GO:0070989)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	aromatase activity (GO:0070330)|caffeine oxidase activity (GO:0034875)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)			breast(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|skin(3)	21		Colorectal(252;0.0397)		all cancers(201;6.21e-05)	Abiraterone(DB05812)|Acetaminophen(DB00316)|Acetylsalicylic acid(DB00945)|Almotriptan(DB00918)|Aminophenazone(DB01424)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amodiaquine(DB00613)|Amprenavir(DB00701)|Antipyrine(DB01435)|Apixaban(DB06605)|Atorvastatin(DB01076)|Azelastine(DB00972)|Benzyl alcohol(DB06770)|Bezafibrate(DB01393)|Bortezomib(DB00188)|Brompheniramine(DB00835)|Buprenorphine(DB00921)|Bupropion(DB01156)|Cabazitaxel(DB06772)|Caffeine(DB00201)|Candesartan(DB00796)|Carbamazepine(DB00564)|Carbinoxamine(DB00748)|Chloramphenicol(DB00446)|Chloroquine(DB00608)|Cholecalciferol(DB00169)|Cimetidine(DB00501)|Cisapride(DB00604)|Clopidogrel(DB00758)|Clotrimazole(DB00257)|Clozapine(DB00363)|Cocaine(DB00907)|Colchicine(DB01394)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dabrafenib(DB08912)|Dapsone(DB00250)|Delavirdine(DB00705)|Dexamethasone(DB01234)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Diazepam(DB00829)|Diclofenac(DB00586)|Diethylstilbestrol(DB00255)|Diltiazem(DB00343)|Domperidone(DB01184)|Eltrombopag(DB06210)|Enzalutamide(DB08899)|Erlotinib(DB00530)|Estradiol(DB00783)|Eszopiclone(DB00402)|Ethinyl Estradiol(DB00977)|Etoposide(DB00773)|Felodipine(DB01023)|Fenofibrate(DB01039)|Fluorouracil(DB00544)|Fluvastatin(DB01095)|Fosphenytoin(DB01320)|Gemfibrozil(DB01241)|Halofantrine(DB01218)|Hydrocortisone(DB00741)|Ibuprofen(DB01050)|Ifosfamide(DB01181)|Irbesartan(DB01029)|Isoniazid(DB00951)|Ketamine(DB01221)|Ketobemidone(DB06738)|Ketoconazole(DB01026)|Ketoprofen(DB01009)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Levomilnacipran(DB08918)|Levothyroxine(DB00451)|Lidocaine(DB00281)|Liotrix(DB01583)|Loperamide(DB00836)|Loratadine(DB00455)|Losartan(DB00678)|Lovastatin(DB00227)|Medroxyprogesterone Acetate(DB00603)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Methadone(DB00333)|Metronidazole(DB00916)|Mirtazapine(DB00370)|Mometasone(DB00764)|Montelukast(DB00471)|Morphine(DB00295)|Mycophenolate mofetil(DB00688)|Naloxone(DB01183)|Naproxen(DB00788)|Nicardipine(DB00622)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nilutamide(DB00665)|Nilvadipine(DB06712)|Omeprazole(DB00338)|Oxybutynin(DB01062)|Paclitaxel(DB01229)|Paramethadione(DB00617)|Paroxetine(DB00715)|Pazopanib(DB06589)|Pentamidine(DB00738)|Perphenazine(DB00850)|Phenelzine(DB00780)|Phenobarbital(DB01174)|Phenprocoumon(DB00946)|Phenytoin(DB00252)|Pioglitazone(DB01132)|Piroxicam(DB00554)|Pitavastatin(DB08860)|Ponatinib(DB08901)|Pravastatin(DB00175)|Primidone(DB00794)|Probenecid(DB01032)|Progesterone(DB00396)|Propafenone(DB01182)|Propofol(DB00818)|Pyrimethamine(DB00205)|Quinidine(DB00908)|Quinine(DB00468)|Raloxifene(DB00481)|Regorafenib(DB08896)|Repaglinide(DB00912)|Rifampicin(DB01045)|Rifapentine(DB01201)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Salmeterol(DB00938)|Saquinavir(DB01232)|Secobarbital(DB00418)|Selegiline(DB01037)|Simvastatin(DB00641)|Sitagliptin(DB01261)|Sorafenib(DB00398)|Spironolactone(DB00421)|Sulfadiazine(DB00359)|Sulfamethoxazole(DB01015)|Sulfaphenazole(DB06729)|Sulfinpyrazone(DB01138)|Tamoxifen(DB00675)|Tazarotene(DB00799)|Temazepam(DB00231)|Terbinafine(DB00857)|Testosterone(DB00624)|Theophylline(DB00277)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tioconazole(DB01007)|Tolbutamide(DB01124)|Torasemide(DB00214)|Trametinib(DB08911)|Tretinoin(DB00755)|Triazolam(DB00897)|Trimethadione(DB00347)|Trimethoprim(DB00440)|Troleandomycin(DB01361)|Valproic Acid(DB00313)|Verapamil(DB00661)|Vismodegib(DB08828)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zidovudine(DB00495)|Zopiclone(DB01198)	GACCATAGACTTTTGAGAACT	0.388																																						ENST00000371270.3																			0				breast(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|skin(3)	21						c.(175-177)aaA>aaC		cytochrome P450, family 2, subfamily C, polypeptide 8	Aminophenazone(DB01424)|Amiodarone(DB01118)|Amodiaquine(DB00613)|Benzphetamine(DB00865)|Carbamazepine(DB00564)|Cerivastatin(DB00439)|Diclofenac(DB00586)|Fluvastatin(DB01095)|Fosphenytoin(DB01320)|Gemfibrozil(DB01241)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Lovastatin(DB00227)|Midazolam(DB00683)|Montelukast(DB00471)|Nicardipine(DB00622)|Paclitaxel(DB01229)|Phenytoin(DB00252)|Pioglitazone(DB01132)|Repaglinide(DB00912)|Rifampin(DB01045)|Rosiglitazone(DB00412)|Simvastatin(DB00641)|Sitagliptin(DB01261)|Tolbutamide(DB01124)|Torasemide(DB00214)|Tretinoin(DB00755)|Trimethoprim(DB00440)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zopiclone(DB01198)						77	72	74					10																	96827440		2203	4300	6503	SO:0001583	missense	1558				exogenous drug catabolic process|organic acid metabolic process|oxidative demethylation|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|caffeine oxidase activity|electron carrier activity|heme binding|oxygen binding	g.chr10:96827440T>G	M17397	CCDS7438.1, CCDS55721.1, CCDS73166.1	10q24.1	2007-12-14	2003-01-14		ENSG00000138115	ENSG00000138115		"Cytochrome P450s"	2622	protein-coding gene	gene with protein product		601129	"cytochrome P450, subfamily IIC (mephenytoin 4-hydroxylase), polypeptide 8"			7841444	Standard	NM_001198853		Approved	CPC8	uc001kkb.3	P10632	OTTHUMG00000018804	ENST00000371270.3:c.177A>C	10.37:g.96827440T>G	ENSP00000360317:p.Lys59Asn					CYP2C8_ENST00000535898.1_Intron|CYP2C8_ENST00000539050.1_5'UTR	p.K59N	NM_000770.3|NM_001198853.1|NM_001198855.1	NP_000761.3|NP_001185782.1|NP_001185784.1	P10632	CP2C8_HUMAN		all cancers(201;6.21e-05)	2	271	-		Colorectal(252;0.0397)	59					A8K9N8|B0AZN2|B7Z1F6|Q5VX93|Q8WWB1|Q9UCZ9	Missense_Mutation	SNP	ENST00000371270.3	37	c.177A>C	CCDS7438.1	.	.	.	.	.	.	.	.	.	.	T	12.50	1.957454	0.34565	.	.	ENSG00000138115	ENST00000371270	T	0.71934	-0.61	4.86	3.73	0.42828	.	0.222293	0.36555	U	0.002525	T	0.72317	0.3445	M	0.83852	2.665	0.43846	D	0.996435	P	0.34522	0.455	B	0.40134	0.32	T	0.72616	-0.4239	10	0.87932	D	0	.	5.9565	0.19275	0.0:0.2731:0.0:0.7269	.	59	P10632	CP2C8_HUMAN	N	59	ENSP00000360317:K59N	ENSP00000360317:K59N	K	-	3	2	CYP2C8	96817430	0.031000	0.19500	0.009000	0.14445	0.021000	0.10359	0.463000	0.21972	0.903000	0.36546	0.459000	0.35465	AAA		0.388	CYP2C8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049499.2	NM_000770		12	16	0	0	0	1	0	12	16					G	96827440	T	G	96827440	3	3	308	1	0	0	0	0	1	0	0	0	4167	1606	56	5	1327	5	CYP2C8	10	96827440	Missense_Mutation	SNP	T	TCGA-KK-A59Z-01A-12D-A26M-08	61509001	96827440	38707307	22	15773											
OR4A15	81328	broad.mit.edu	37	chr11	55135991	55135991	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cttcctgtgtgatttgtatcCcttattgaaacttgcttgca	7	18	7	9	0	0	2	0	2	0	0	2	2	2	2	2	0	3	3	2	0	3	7			TCGA-KK-A59Z-01A-12D-A26M-08	TCGA-KK-A59Z-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fb84b2b-2982-40fd-81c4-64892a963f04	5c810244-da67-425d-8315-da8c34d6a16f	g.chr11:55135991C>A	ENST00000314706.3	+	1	632	c.632C>A	c.(631-633)cCc>cAc	p.P211H		NM_001005275.1	NP_001005275.1	Q8NGL6	O4A15_HUMAN	olfactory receptor, family 4, subfamily A, member 15	211						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(48)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	71						GATTTGTATCCCTTATTGAAA	0.413																																						ENST00000314706.3																			0				NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(48)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	71						c.(631-633)cCc>cAc		olfactory receptor, family 4, subfamily A, member 15							138	128	131					11																	55135991		2201	4293	6494	SO:0001583	missense	81328				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55135991C>A	AB065776	CCDS31500.1	11q11	2012-08-09			ENSG00000181958	ENSG00000181958		"GPCR / Class A : Olfactory receptors"	15152	protein-coding gene	gene with protein product							Standard	NM_001005275		Approved		uc010rif.2	Q8NGL6	OTTHUMG00000166711	ENST00000314706.3:c.632C>A	11.37:g.55135991C>A	ENSP00000325065:p.Pro211His						p.P211H	NM_001005275.1	NP_001005275.1	Q8NGL6	O4A15_HUMAN			1	632	+			211					Q6IFL4|Q96R65	Missense_Mutation	SNP	ENST00000314706.3	37	c.632C>A	CCDS31500.1	.	.	.	.	.	.	.	.	.	.	-	8.983	0.975818	0.18736	.	.	ENSG00000181958	ENST00000314706	T	0.00211	8.54	3.65	2.73	0.32206	GPCR, rhodopsin-like superfamily (1);	0.000000	0.49916	D	0.000134	T	0.00695	0.0023	H	0.94462	3.54	0.09310	N	1	D	0.89917	1.0	D	0.79108	0.992	T	0.21999	-1.0229	10	0.87932	D	0	.	8.7222	0.34447	0.0:0.8837:0.0:0.1163	.	211	Q8NGL6	O4A15_HUMAN	H	211	ENSP00000325065:P211H	ENSP00000325065:P211H	P	+	2	0	OR4A15	54892567	0.000000	0.05858	0.007000	0.13788	0.048000	0.14542	0.086000	0.14935	0.742000	0.32697	0.492000	0.49549	CCC		0.413	OR4A15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391161.1	NM_001005275		16	85	1	0	4.7546e-09	1	5.32516e-09	16	85					A	55135991	C	A	55135991	3	1	308	1	0	0	0	0	1	0	0	0	11040	623	22	5	634	5	OR4A15	11	55135991	Missense_Mutation	SNP	C	TCGA-KK-A59Z-01A-12D-A26M-08		55135991	79870525	23	15774											
OR5D13	390142	broad.mit.edu	37	chr11	55541087	55541087	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agactcaattcaaaactccaTacaatcatgtgctttttcct	13	14	3	11	0	3	1	3	0	0	1	5	1	5	1	2	0	3	1	2	0	5	4			TCGA-KK-A59Z-01A-12D-A26M-08	TCGA-KK-A59Z-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fb84b2b-2982-40fd-81c4-64892a963f04	5c810244-da67-425d-8315-da8c34d6a16f	g.chr11:55541087T>C	ENST00000361760.1	+	1	174	c.174T>C	c.(172-174)caT>caC	p.H58H		NM_001001967.1	NP_001001967.1	Q8NGL4	OR5DD_HUMAN	olfactory receptor, family 5, subfamily D, member 13	58						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(20)|ovary(1)|pancreas(2)|skin(2)|stomach(1)|urinary_tract(1)	40		all_epithelial(135;0.196)				CAAAACTCCATACAATCATGT	0.403																																						ENST00000361760.1																			0				breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(20)|ovary(1)|pancreas(2)|skin(2)|stomach(1)|urinary_tract(1)	40						c.(172-174)caT>caC		olfactory receptor, family 5, subfamily D, member 13							177	164	169					11																	55541087		2200	4296	6496	SO:0001819	synonymous_variant	390142				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55541087T>C	BK004394	CCDS31507.1	11q11	2012-08-09			ENSG00000198877	ENSG00000198877		"GPCR / Class A : Olfactory receptors"	15280	protein-coding gene	gene with protein product							Standard	NM_001001967		Approved		uc010ril.2	Q8NGL4	OTTHUMG00000166807	ENST00000361760.1:c.174T>C	11.37:g.55541087T>C							p.H58H	NM_001001967.1	NP_001001967.1	Q8NGL4	OR5DD_HUMAN			1	174	+		all_epithelial(135;0.196)	58					Q6IF68|Q6IFC9	Silent	SNP	ENST00000361760.1	37	c.174T>C	CCDS31507.1																																																																																				0.403	OR5D13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391511.1	NM_001001967		5	92	0	0	0	1	0	5	92					C	55541087	T	C	55541087	2	2	308	1	0	0	0	0	0	0	0	1	11154	1403	49	4		4	OR5D13	11	55541087	Silent	SNP	T	TCGA-KK-A59Z-01A-12D-A26M-08	405096	55541087	79465429	24	15775											
SYT7	9066	broad.mit.edu	37	chr11	61323611	61323611	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccagtggcagaggccgcagaGgacgacagtgacgctaaggc	11	3	16	11	3	0	3	0	1	0	2	0	5	0	4	2	4	0	3	2	4	1	1	rs144496851		TCGA-KK-A59Z-01A-12D-A26M-08	TCGA-KK-A59Z-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fb84b2b-2982-40fd-81c4-64892a963f04	5c810244-da67-425d-8315-da8c34d6a16f	g.chr11:61323611G>C	ENST00000263846.4	-	2	427	c.100C>G	c.(100-102)Ctc>Gtc	p.L34V	SYT7_ENST00000540677.1_Missense_Mutation_p.L34V|SYT7_ENST00000542836.1_Missense_Mutation_p.L34V|SYT7_ENST00000539008.1_Missense_Mutation_p.L34V|SYT7_ENST00000542670.1_Missense_Mutation_p.L34V|SYT7_ENST00000535826.1_Missense_Mutation_p.L34V	NM_004200.3	NP_004191.2	O43581	SYT7_HUMAN	synaptotagmin VII	34					exocytosis (GO:0006887)|plasma membrane repair (GO:0001778)|positive regulation of calcium ion-dependent exocytosis (GO:0045956)|regulation of insulin secretion (GO:0050796)	cell junction (GO:0030054)|dense core granule (GO:0031045)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|transporter activity (GO:0005215)			kidney(2)|large_intestine(3)|lung(4)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						AGGCCGCAGAGGACGACAGTG	0.662													G|||	1	0.000199681	0	0	5008	,	,		18589	0		0.001	False		,,,				2504	0					ENST00000263846.4																			0				kidney(2)|large_intestine(3)|lung(4)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						c.(100-102)Ctc>Gtc		synaptotagmin VII		G	VAL/LEU	0,4404		0,0,2202	66	53	57		100	4.1	1	11	dbSNP_134	57	1,8597	1.2+/-3.3	0,1,4298	no	missense	SYT7	NM_004200.2	32	0,1,6500	CC,CG,GG		0.0116,0.0,0.0077	benign	34/404	61323611	1,13001	2202	4299	6501	SO:0001583	missense	9066					cell junction|integral to membrane|synaptic vesicle membrane	transporter activity	g.chr11:61323611G>C	AF038535	CCDS31577.1, CCDS58139.1, CCDS73298.1	11q12-q13.1	2013-01-21			ENSG00000011347	ENSG00000011347		"Synaptotagmins"	11514	protein-coding gene	gene with protein product		604146	"prostate cancer associated protein 7"	PCANAP7		9615227	Standard	NM_001252065		Approved	IPCA-7, SYT-VII, MGC150517	uc009ynr.3	O43581	OTTHUMG00000168199	ENST00000263846.4:c.100C>G	11.37:g.61323611G>C	ENSP00000263846:p.Leu34Val					SYT7_ENST00000542670.1_Missense_Mutation_p.L34V|SYT7_ENST00000540677.1_Missense_Mutation_p.L34V|SYT7_ENST00000535826.1_Missense_Mutation_p.L34V|SYT7_ENST00000539008.1_Missense_Mutation_p.L34V|SYT7_ENST00000542836.1_Missense_Mutation_p.L34V	p.L34V	NM_004200.3	NP_004191.2	O43581	SYT7_HUMAN			2	427	-			34					F5GZU9|Q08AH6	Missense_Mutation	SNP	ENST00000263846.4	37	c.100C>G	CCDS31577.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	20.9	4.060127	0.76074	0.0	1.16E-4	ENSG00000011347	ENST00000263846;ENST00000540677;ENST00000539008;ENST00000542836;ENST00000542670;ENST00000535826;ENST00000545053	T;T;T;T;T;T;T	0.71222	-0.28;-0.55;-0.11;-0.24;-0.34;-0.33;1.05	4.98	4.06	0.47325	.	0.425981	0.21371	N	0.075621	T	0.51534	0.1680	N	0.24115	0.695	0.32985	D	0.524181	B;B	0.15473	0.006;0.013	B;B	0.11329	0.006;0.003	T	0.50320	-0.8842	10	0.02654	T	1	.	12.5931	0.56453	0.0:0.0:0.6985:0.3015	.	34;34	F5GZU9;O43581	.;SYT7_HUMAN	V	34	ENSP00000263846:L34V;ENSP00000444201:L34V;ENSP00000439694:L34V;ENSP00000444568:L34V;ENSP00000444019:L34V;ENSP00000437720:L34V;ENSP00000443576:L34V	ENSP00000263846:L34V	L	-	1	0	SYT7	61080187	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.307000	0.59123	1.201000	0.43203	0.591000	0.81541	CTC		0.662	SYT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398733.1	NM_004200		13	23	0	0	0	1	0	13	23					C	61323611	G	C	61323611	3	2	308	1	0	0	0	0	1	0	0	0	15476	1000	35	5	1143	5	SYT7	11	61323611	Missense_Mutation	SNP	G	TCGA-KK-A59Z-01A-12D-A26M-08	5782524	61323611	73682905	25	15776											
TMEM151A	256472	broad.mit.edu	37	chr11	66061863	66061863	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggaagtgcctgctcctcaCgctgctcatccacgcctgcg	5	9	10	17	3	2	0	2	0	0	0	4	1	4	1	4	1	4	3	4	1	1	0			TCGA-KK-A59Z-01A-12D-A26M-08	TCGA-KK-A59Z-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fb84b2b-2982-40fd-81c4-64892a963f04	5c810244-da67-425d-8315-da8c34d6a16f	g.chr11:66061863C>A	ENST00000327259.4	+	2	290	c.146C>A	c.(145-147)aCg>aAg	p.T49K		NM_153266.3	NP_694998.1	Q8N4L1	T151A_HUMAN	transmembrane protein 151A	49						integral component of membrane (GO:0016021)				central_nervous_system(1)|kidney(4)|lung(6)	11						CTGCTCCTCACGCTGCTCATC	0.706																																						ENST00000327259.4																			0				central_nervous_system(1)|kidney(4)|lung(6)	11						c.(145-147)aCg>aAg		transmembrane protein 151A							41	41	41					11																	66061863		2198	4295	6493	SO:0001583	missense	256472					integral to membrane		g.chr11:66061863C>A	BC033898	CCDS8133.1	11q13.2	2007-10-25	2007-10-25	2007-10-25	ENSG00000179292	ENSG00000179292			28497	protein-coding gene	gene with protein product			"transmembrane protein 151"	TMEM151		12477932	Standard	NM_153266		Approved	MGC33486	uc001ohl.3	Q8N4L1	OTTHUMG00000166920	ENST00000327259.4:c.146C>A	11.37:g.66061863C>A	ENSP00000326244:p.Thr49Lys						p.T49K	NM_153266.3	NP_694998.1	Q8N4L1	T151A_HUMAN			2	290	+			49					Q8ND14	Missense_Mutation	SNP	ENST00000327259.4	37	c.146C>A	CCDS8133.1	.	.	.	.	.	.	.	.	.	.	C	24.6	4.544961	0.86022	.	.	ENSG00000179292	ENST00000327259	.	.	.	4.56	4.56	0.56223	.	0.000000	0.64402	D	0.000001	T	0.67297	0.2878	L	0.53249	1.67	0.54753	D	0.999987	D	0.56287	0.975	P	0.56648	0.803	T	0.71869	-0.4462	9	0.87932	D	0	.	16.2455	0.82441	0.0:1.0:0.0:0.0	.	49	Q8N4L1	T151A_HUMAN	K	49	.	ENSP00000326244:T49K	T	+	2	0	TMEM151A	65818439	1.000000	0.71417	0.997000	0.53966	0.881000	0.50899	7.572000	0.82409	2.368000	0.80403	0.462000	0.41574	ACG		0.706	TMEM151A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391897.1	NM_153266		33	44	1	0	2.48696e-23	1	2.94232e-23	33	44					A	66061863	C	A	66061863	3	1	308	1	0	0	0	0	1	0	0	0	16067	536	19	5	152	5	TMEM151A	11	66061863	Missense_Mutation	SNP	C	TCGA-KK-A59Z-01A-12D-A26M-08	4738252	66061863	68944653	26	15777											
PPFIBP1	8496	broad.mit.edu	37	chr12	27835611	27835611	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgatgaaggacgggttgatgGtcgaatgctacattacatga	12	11	13	5	2	0	4	0	4	0	0	1	6	0	5	0	3	3	2	0	3	4	3			TCGA-KK-A59Z-01A-12D-A26M-08	TCGA-KK-A59Z-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fb84b2b-2982-40fd-81c4-64892a963f04	5c810244-da67-425d-8315-da8c34d6a16f	g.chr12:27835611G>T	ENST00000318304.8	+	23	2523	c.2240G>T	c.(2239-2241)gGt>gTt	p.G747V	PPFIBP1_ENST00000228425.6_Missense_Mutation_p.G741V|PPFIBP1_ENST00000542629.1_Missense_Mutation_p.G716V|PPFIBP1_ENST00000537927.1_Missense_Mutation_p.G594V	NM_001198916.1|NM_177444.2	NP_001185845.1|NP_803193	Q86W92	LIPB1_HUMAN	PTPRF interacting protein, binding protein 1 (liprin beta 1)	747	SAM 2. {ECO:0000255|PROSITE- ProRule:PRU00184}.				cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)			PPFIBP1/ALK(3)	central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(13)|prostate(2)|skin(1)	32	Lung SC(9;0.0873)					CGGGTTGATGGTCGAATGCTA	0.448																																						ENST00000318304.8																		PPFIBP1/ALK(3)	0				central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(13)|prostate(2)|skin(1)	32						c.(2239-2241)gGt>gTt		PTPRF interacting protein, binding protein 1 (liprin beta 1)							165	158	160					12																	27835611		2203	4300	6503	SO:0001583	missense	8496				cell adhesion	plasma membrane	protein binding	g.chr12:27835611G>T	AF034802	CCDS8713.1, CCDS55812.1, CCDS55813.1, CCDS55814.1	12p12.1	2013-01-10						"Sterile alpha motif (SAM) domain containing"	9249	protein-coding gene	gene with protein product		603141				9624153, 11836260	Standard	NM_003622		Approved	L2, hSGT2, hSgt2p, SGT2	uc001ric.2	Q86W92		ENST00000318304.8:c.2240G>T	12.37:g.27835611G>T	ENSP00000314724:p.Gly747Val					PPFIBP1_ENST00000537927.1_Missense_Mutation_p.G594V|PPFIBP1_ENST00000228425.6_Missense_Mutation_p.G741V|PPFIBP1_ENST00000542629.1_Missense_Mutation_p.G716V	p.G747V	NM_001198916.1|NM_177444.2	NP_001185845.1|NP_803193.2	Q86W92	LIPB1_HUMAN			23	2523	+	Lung SC(9;0.0873)		747			SAM 2.		O75336|Q86X70|Q9NY03|Q9ULJ0	Missense_Mutation	SNP	ENST00000318304.8	37	c.2240G>T	CCDS55812.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	25.5|25.5	4.641112|4.641112	0.87859|0.87859	.|.	.|.	ENSG00000110841|ENSG00000110841	ENST00000540114;ENST00000537927;ENST00000318304;ENST00000542629;ENST00000228425|ENST00000539326	T;T;T;T;T|.	0.56611|.	0.45;0.45;0.45;0.45;0.45|.	5.26|5.26	5.26|5.26	0.73747|0.73747	Sterile alpha motif domain (2);Sterile alpha motif/pointed domain (2);Sterile alpha motif, type 1 (1);|.	0.000000|.	0.34802|.	U|.	0.003663|.	D|D	0.84347|0.84347	0.5452|0.5452	M|M	0.89214|0.89214	3.015|3.015	0.80722|0.80722	D|D	1|1	D;D;D;D;D|.	0.89917|.	1.0;1.0;1.0;1.0;1.0|.	D;D;D;D;D|.	0.97110|.	1.0;1.0;1.0;0.999;1.0|.	D|D	0.86972|0.86972	0.2098|0.2098	10|5	0.87932|.	D|.	0|.	-19.2059|-19.2059	18.4819|18.4819	0.90815|0.90815	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	594;578;747;741;716|.	Q86W92-3;F5GZP6;Q86W92;Q86W92-2;Q86W92-4|.	.;.;LIPB1_HUMAN;.;.|.	V|F	578;594;747;716;741|19	ENSP00000444304:G578V;ENSP00000445425:G594V;ENSP00000314724:G747V;ENSP00000443442:G716V;ENSP00000228425:G741V|.	ENSP00000228425:G741V|.	G|V	+|+	2|1	0|0	PPFIBP1|PPFIBP1	27726878|27726878	1.000000|1.000000	0.71417|0.71417	0.935000|0.935000	0.37517|0.37517	0.780000|0.780000	0.44128|0.44128	9.690000|9.690000	0.98676|0.98676	2.450000|2.450000	0.82876|0.82876	0.655000|0.655000	0.94253|0.94253	GGT|GTC		0.448	PPFIBP1-007	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402877.1	NM_003622		35	77	1	0	5.71845e-15	1	6.58013e-15	35	77					T	27835611	G	T	27835611	3	4	308	1	0	0	0	0	1	0	0	0	12313	1261	44	5	2350	5	PPFIBP1	12	27835611	Missense_Mutation	SNP	G	TCGA-KK-A59Z-01A-12D-A26M-08		27835611	106016284	27	15778											
SYT10	341359	broad.mit.edu	37	chr12	33579131	33579131	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acgtgcatgtttaattaaatGttcttttaaagcagtttgga	12	17	8	4	1	1	0	0	0	1	0	1	1	1	1	0	1	2	5	0	1	5	7			TCGA-KK-A59Z-01A-12D-A26M-08	TCGA-KK-A59Z-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fb84b2b-2982-40fd-81c4-64892a963f04	5c810244-da67-425d-8315-da8c34d6a16f	g.chr12:33579131G>A	ENST00000228567.3	-	2	747	c.451C>T	c.(451-453)Cat>Tat	p.H151Y	SYT10_ENST00000535526.1_5'UTR|SYT10_ENST00000567656.1_5'Flank	NM_198992.3	NP_945343.1	Q6XYQ8	SYT10_HUMAN	synaptotagmin X	151					regulation of calcium ion-dependent exocytosis (GO:0017158)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|synaptic vesicle (GO:0008021)	metal ion binding (GO:0046872)|transporter activity (GO:0005215)			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(3)|skin(4)|urinary_tract(1)	42	Lung NSC(5;8.37e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0334)					TTAATTAAATGTTCTTTTAAA	0.403																																						ENST00000228567.3																			0				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(3)|skin(4)|urinary_tract(1)	42						c.(451-453)Cat>Tat		synaptotagmin X							187	195	193					12																	33579131		2203	4300	6503	SO:0001583	missense	341359					cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity	g.chr12:33579131G>A	AY198413	CCDS8732.1	12p11	2013-01-21			ENSG00000110975	ENSG00000110975		"Synaptotagmins"	19266	protein-coding gene	gene with protein product							Standard	NM_198992		Approved		uc001rll.1	Q6XYQ8	OTTHUMG00000169269	ENST00000228567.3:c.451C>T	12.37:g.33579131G>A	ENSP00000228567:p.His151Tyr					SYT10_ENST00000535526.1_5'UTR	p.H151Y	NM_198992.3	NP_945343.1	Q6XYQ8	SYT10_HUMAN			2	747	-	Lung NSC(5;8.37e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0334)		151					Q495U2	Missense_Mutation	SNP	ENST00000228567.3	37	c.451C>T	CCDS8732.1	.	.	.	.	.	.	.	.	.	.	G	18.14	3.557566	0.65425	.	.	ENSG00000110975	ENST00000228567	T	0.49432	0.78	3.78	3.78	0.43462	.	0.000000	0.42821	U	0.000655	T	0.45975	0.1369	L	0.54323	1.7	0.80722	D	1	P	0.47106	0.89	B	0.41917	0.37	T	0.55909	-0.8066	10	0.56958	D	0.05	.	15.8987	0.79356	0.0:0.0:1.0:0.0	.	151	Q6XYQ8	SYT10_HUMAN	Y	151	ENSP00000228567:H151Y	ENSP00000228567:H151Y	H	-	1	0	SYT10	33470398	1.000000	0.71417	0.997000	0.53966	0.997000	0.91878	5.246000	0.65411	2.390000	0.81377	0.655000	0.94253	CAT		0.403	SYT10-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403222.1	NM_198992		64	68	0	0	0	1	0	64	68					A	33579131	G	A	33579131	3	1	308	1	0	0	0	0	1	0	0	0	15463	1377	48	3	1144	3	SYT10	12	33579131	Missense_Mutation	SNP	G	TCGA-KK-A59Z-01A-12D-A26M-08	5743520	33579131	100272764	28	15779											
WIF1	11197	broad.mit.edu	37	chr12	65461496	65461496	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tttctcacagtgaggtccgtGgaacccatcaggacactcgc	9	9	10	13	2	2	1	2	1	1	0	5	3	3	3	2	3	1	0	2	3	1	1			TCGA-KK-A59Z-01A-12D-A26M-08	TCGA-KK-A59Z-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fb84b2b-2982-40fd-81c4-64892a963f04	5c810244-da67-425d-8315-da8c34d6a16f	g.chr12:65461496G>T	ENST00000286574.4	-	5	987	c.613C>A	c.(613-615)Cac>Aac	p.H205N		NM_007191.4	NP_009122.2	Q9Y5W5	WIF1_HUMAN	WNT inhibitory factor 1	205	EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00076}.				multicellular organismal development (GO:0007275)|positive regulation of fat cell differentiation (GO:0045600)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055)	extracellular region (GO:0005576)				cervix(1)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1)	21			LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975)	GBM - Glioblastoma multiforme(28;0.0231)		TGAGGTCCGTGGAACCCATCA	0.507			T	HMGA2	pleomorphic salivary gland adenoma																																Esophageal Squamous(148;1595 1816 48559 49439 49664)	ENST00000286574.4				Dom	yes		12	12q14.3	11197	T	WNT inhibitory factor 1			E	HMGA2		pleomorphic salivary gland adenoma		0				cervix(1)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1)	21						c.(613-615)Cac>Aac		WNT inhibitory factor 1							103	88	93					12																	65461496		2203	4300	6503	SO:0001583	missense	11197				multicellular organismal development|Wnt receptor signaling pathway	extracellular region	protein tyrosine kinase activity	g.chr12:65461496G>T	AF122922	CCDS8971.1	12q14.2	2008-04-11			ENSG00000156076	ENSG00000156076			18081	protein-coding gene	gene with protein product		605186				10201374	Standard	NM_007191		Approved		uc001ssk.3	Q9Y5W5	OTTHUMG00000168832	ENST00000286574.4:c.613C>A	12.37:g.65461496G>T	ENSP00000286574:p.His205Asn						p.H205N	NM_007191.4	NP_009122.2	Q9Y5W5	WIF1_HUMAN	LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975)	GBM - Glioblastoma multiforme(28;0.0231)	5	987	-			205			EGF-like 1.		Q6UXI1|Q8WVG4	Missense_Mutation	SNP	ENST00000286574.4	37	c.613C>A	CCDS8971.1	.	.	.	.	.	.	.	.	.	.	G	11.00	1.509483	0.27036	.	.	ENSG00000156076	ENST00000286574	T	0.41065	1.01	5.64	3.14	0.36123	EGF, extracellular (1);Epidermal growth factor-like (1);EGF-like region, conserved site (2);Epidermal growth factor-like, type 3 (1);	0.196582	0.45126	D	0.000393	T	0.19525	0.0469	N	0.04768	-0.165	0.23624	N	0.99727	B	0.10296	0.003	B	0.12156	0.007	T	0.20840	-1.0263	9	.	.	.	.	9.2352	0.37461	0.8443:0.0:0.1557:0.0	.	205	Q9Y5W5	WIF1_HUMAN	N	205	ENSP00000286574:H205N	.	H	-	1	0	WIF1	63747763	1.000000	0.71417	0.853000	0.33588	0.336000	0.28762	4.502000	0.60400	0.495000	0.27882	-0.290000	0.09829	CAC		0.507	WIF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401258.2			5	23	1	0	0.0215528	1	0.0218124	5	23					T	65461496	G	T	65461496	3	4	308	1	0	0	0	0	1	0	0	0	17363	1348	47	5	550	5	WIF1	12	65461496	Missense_Mutation	SNP	G	TCGA-KK-A59Z-01A-12D-A26M-08	31882365	65461496	68390399	29	15780											
STAB2	55576	broad.mit.edu	37	chr12	104134472	104134472	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctggaaggctgccgggagcGgtgcagcctggtgatacaga	8	6	17	10	2	0	2	0	1	0	1	0	4	0	4	3	5	5	2	3	5	2	1	rs139559759		TCGA-KK-A59Z-01A-12D-A26M-08	TCGA-KK-A59Z-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fb84b2b-2982-40fd-81c4-64892a963f04	5c810244-da67-425d-8315-da8c34d6a16f	g.chr12:104134472G>A	ENST00000388887.2	+	55	6023	c.5819G>A	c.(5818-5820)cGg>cAg	p.R1940Q		NM_017564.9	NP_060034.9			stabilin 2											NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						TGCCGGGAGCGGTGCAGCCTG	0.577													G|||	1	0.000199681	8e-04	0	5008	,	,		18750	0		0	False		,,,				2504	0					ENST00000388887.2																			0				NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						c.(5818-5820)cGg>cAg		stabilin 2		G	GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	96	89	91		5819	-6.3	0	12	dbSNP_134	91	0,8600		0,0,4300	yes	missense	STAB2	NM_017564.9	43	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	1940/2552	104134472	1,13005	2203	4300	6503	SO:0001583	missense	55576				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity	g.chr12:104134472G>A	AF160476	CCDS31888.1	12q23.3	2007-01-29				ENSG00000136011			18629	protein-coding gene	gene with protein product	"hyaluronic acid receptor for endocytosis"	608561				11829752, 12077138	Standard	XR_429107		Approved	DKFZP434E0321, FELL, STAB-2, HARE, FEEL-2	uc001tjw.3	Q8WWQ8	OTTHUMG00000170056	ENST00000388887.2:c.5819G>A	12.37:g.104134472G>A	ENSP00000373539:p.Arg1940Gln						p.R1940Q	NM_017564.9	NP_060034.9	Q8WWQ8	STAB2_HUMAN			55	6023	+			1940						Missense_Mutation	SNP	ENST00000388887.2	37	c.5819G>A	CCDS31888.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	6.021	0.372209	0.11409	2.27E-4	0.0	ENSG00000136011	ENST00000388887;ENST00000258495	D	0.83673	-1.75	5.46	-6.26	0.02033	.	1.919750	0.02368	N	0.077525	T	0.60209	0.2251	N	0.04090	-0.28	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.51244	-0.8730	10	0.26408	T	0.33	.	4.6907	0.12780	0.2621:0.0994:0.0634:0.5751	.	1940	Q8WWQ8	STAB2_HUMAN	Q	1940;627	ENSP00000373539:R1940Q	ENSP00000258495:R627Q	R	+	2	0	STAB2	102658602	0.001000	0.12720	0.003000	0.11579	0.406000	0.30931	0.272000	0.18644	-0.815000	0.04346	-0.290000	0.09829	CGG		0.577	STAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407089.1			22	88	0	0	0	1	0	22	88					A	104134472	G	A	104134472	3	1	308	1	0	0	0	0	1	0	0	0	15237	1116	39	2	6037	2	STAB2	12	104134472	Missense_Mutation	SNP	G	TCGA-KK-A59Z-01A-12D-A26M-08	38672976	104134472	29717423	30	15781											
C12orf24	29902	broad.mit.edu	37	chr12	110924408	110924408	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acagcattacccttgcactaCatggcgacatcaactggaga	13	8	8	12	1	1	1	1	0	0	1	1	3	1	1	1	2	5	2	1	2	3	3			TCGA-KK-A59Z-01A-12D-A26M-08	TCGA-KK-A59Z-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fb84b2b-2982-40fd-81c4-64892a963f04	5c810244-da67-425d-8315-da8c34d6a16f	g.chr12:110924408C>T	ENST00000377673.5	+	5	1018	c.506C>T	c.(505-507)aCa>aTa	p.T169I		NM_013300.2	NP_037432.2	Q8WUB2	F216A_HUMAN	family with sequence similarity 216, member A	169																	CCTTGCACTACATGGCGACAT	0.507																																						ENST00000377673.5																			0											c.(505-507)aCa>aTa		family with sequence similarity 216, member A							160	164	163					12																	110924408		2203	4300	6503	SO:0001583	missense	29902							g.chr12:110924408C>T	U79274	CCDS31899.1	12q24.11	2012-02-07	2012-02-07	2012-02-07	ENSG00000204856	ENSG00000204856			30180	protein-coding gene	gene with protein product			"chromosome 12 open reading frame 24"	C12orf24			Standard	NM_013300		Approved	HSU79274	uc001tqu.4	Q8WUB2	OTTHUMG00000169526	ENST00000377673.5:c.506C>T	12.37:g.110924408C>T	ENSP00000366901:p.Thr169Ile						p.T169I	NM_013300.2	NP_037432.2	Q8WUB2	CL024_HUMAN			5	1018	+			169					A6NH30|Q99776	Missense_Mutation	SNP	ENST00000377673.5	37	c.506C>T	CCDS31899.1	.	.	.	.	.	.	.	.	.	.	C	19.02	3.745425	0.69418	.	.	ENSG00000204856	ENST00000377673;ENST00000538285;ENST00000548869	T	0.53423	0.62	3.9	3.9	0.45041	.	0.194901	0.25523	N	0.030095	T	0.59783	0.2219	L	0.54323	1.7	0.80722	D	1	D;D;D	0.67145	0.979;0.996;0.992	P;D;P	0.66351	0.801;0.943;0.876	T	0.62817	-0.6774	10	0.72032	D	0.01	-7.1908	11.5931	0.50957	0.0:1.0:0.0:0.0	.	169;169;169	B4DJX7;F5GZE4;Q8WUB2	.;.;CL024_HUMAN	I	169;169;75	ENSP00000366901:T169I	ENSP00000366901:T169I	T	+	2	0	C12orf24	109408791	0.988000	0.35896	0.977000	0.42913	0.852000	0.48524	1.295000	0.33377	2.167000	0.68274	0.467000	0.42956	ACA		0.507	FAM216A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404616.1	NM_013300		66	93	0	0	0	1	0	66	93					T	110924408	C	T	110924408	3	4	308	1	0	0	0	0	1	0	0	0	1678	478	17	3	524	3	C12orf24	12	110924408	Missense_Mutation	SNP	C	TCGA-KK-A59Z-01A-12D-A26M-08	6789936	110924408	22927487	31	15782											
OAS2	4939	broad.mit.edu	37	chr12	113440906	113440906	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agccaagatccagattgtccGggtgagcactggcctttctc	8	10	11	12	1	1	3	0	1	1	2	4	3	3	3	4	2	2	1	4	2	1	2	rs150642424		TCGA-KK-A59Z-01A-12D-A26M-08	TCGA-KK-A59Z-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fb84b2b-2982-40fd-81c4-64892a963f04	5c810244-da67-425d-8315-da8c34d6a16f	g.chr12:113440906G>A	ENST00000342315.4	+	6	1392	c.1178G>A	c.(1177-1179)cGg>cAg	p.R393Q	RP1-71H24.1_ENST00000552784.1_RNA|OAS2_ENST00000392583.2_Splice_Site_p.R393Q	NM_016817.2	NP_058197.2	P29728	OAS2_HUMAN	2'-5'-oligoadenylate synthetase 2, 69/71kDa	393	OAS domain 2.				cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)|nucleobase-containing compound metabolic process (GO:0006139)|protein glycosylation (GO:0006486)|protein myristoylation (GO:0018377)|purine nucleotide biosynthetic process (GO:0006164)|response to virus (GO:0009615)|RNA catabolic process (GO:0006401)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	2'-5'-oligoadenylate synthetase activity (GO:0001730)|ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(4)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						CAGATTGTCCGGGTGAGCACT	0.453													G|||	1	0.000199681	0	0	5008	,	,		22025	0		0.001	False		,,,				2504	0				Pancreas(199;709 2232 18410 33584 35052)	ENST00000392583.2																			0				NS(1)|breast(2)|endometrium(4)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						c.e6+1		2'-5'-oligoadenylate synthetase 2, 69/71kDa		G	GLN/ARG,GLN/ARG	1,4405		0,1,2202	180	176	177		1178,1178	-0.1	0.3	12	dbSNP_134	177	15,8585		0,15,4285	yes	missense-near-splice,missense-near-splice	OAS2	NM_002535.2,NM_016817.2	43,43	0,16,6487	AA,AG,GG		0.1744,0.0227,0.123	benign,benign	393/688,393/720	113440906	16,12990	2203	4300	6503	SO:0001630	splice_region_variant	0				interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway	endoplasmic reticulum|membrane|microsome|mitochondrion|nucleus	ATP binding|nucleotidyltransferase activity|RNA binding	g.chr12:113440906G>A	M87284	CCDS31906.1, CCDS41839.1, CCDS44982.1	12q24.2	2008-05-02	2002-08-29			ENSG00000111335			8087	protein-coding gene	gene with protein product		603350	"2'-5'-oligoadenylate synthetase 2 (69-71 kD)"			9790745	Standard	NM_002535		Approved		uc001tuj.3	P29728	OTTHUMG00000169802	ENST00000342315.4:c.1179+1G>A	12.37:g.113440906G>A						RP1-71H24.1_ENST00000552784.1_RNA|OAS2_ENST00000342315.4_Splice_Site_p.R393_splice	p.R393_splice	NM_002535.2	NP_002526.2	P29728	OAS2_HUMAN			6	1385	+			393			OAS domain 2.		A8K9T1|Q6PJ33|Q86XX8	Splice_Site	SNP	ENST00000342315.4	37	c.1179_splice	CCDS31906.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	.	12.10	1.836651	0.32421	2.27E-4	0.001744	ENSG00000111335	ENST00000342315;ENST00000392583	T;T	0.06849	3.25;3.25	3.91	-0.0514	0.13827	2-5-oligoadenylate synthetase, N-terminal (1);Nucleotidyl transferase domain (1);	0.500311	0.16272	N	0.221728	T	0.02083	0.0065	N	0.00583	-1.355	0.34012	D	0.651614	B;B	0.09022	0.002;0.001	B;B	0.04013	0.001;0.001	T	0.30822	-0.9965	10	0.51188	T	0.08	-8.6742	6.2483	0.20832	0.6504:0.0:0.3496:0.0	.	393;393	P29728;P29728-2	OAS2_HUMAN;.	Q	393	ENSP00000342278:R393Q;ENSP00000376362:R393Q	ENSP00000342278:R393Q	R	+	2	0	OAS2	111925289	0.914000	0.31030	0.272000	0.24630	0.014000	0.08584	0.827000	0.27421	-0.069000	0.12931	-0.238000	0.12139	CGG		0.453	OAS2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000405937.1		Missense_Mutation	12	243	0	0	0	1	0	12	243					A	113440906	G	A	113440906	5	1	308	1	0	0	0	0	0	0	1	0	10800	1130	39	2	1271	2	OAS2	12	113440906	Splice_Site	SNP	G	TCGA-KK-A59Z-01A-12D-A26M-08	2516498	113440906	20410989	32	15783											
NOS1	4842	broad.mit.edu	37	chr12	117685282	117685282	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tccacagcgtgtccgaaggcGcaaaagtgagggtatgctcg	10	7	14	10	4	0	1	0	1	0	0	3	2	2	1	2	2	2	3	2	2	4	1	rs375782081		TCGA-KK-A59Z-01A-12D-A26M-08	TCGA-KK-A59Z-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fb84b2b-2982-40fd-81c4-64892a963f04	5c810244-da67-425d-8315-da8c34d6a16f	g.chr12:117685282G>A	ENST00000338101.4	-	18	2800	c.2796C>T	c.(2794-2796)tgC>tgT	p.C932C	NOS1_ENST00000344089.3_3'UTR|NOS1_ENST00000317775.6_Silent_p.C898C			Q8WY41	NANO1_HUMAN	nitric oxide synthase 1 (neuronal)	0					cell migration (GO:0016477)|epithelial cell migration (GO:0010631)|negative regulation of translation (GO:0017148)	cytoplasm (GO:0005737)|perinuclear region of cytoplasm (GO:0048471)	RNA binding (GO:0003723)|translation repressor activity (GO:0030371)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)		GTCCGAAGGCGCAAAAGTGAG	0.557																																					Esophageal Squamous(162;1748 2599 51982 52956)	ENST00000317775.6																			0				NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						c.(2692-2694)tgC>tgT		nitric oxide synthase 1 (neuronal)	L-Citrulline(DB00155)	A	,,,	0,3952		0,0,1976	79	78	78		2694,1686,1686,2796	-3.1	1	12		78	1,8309		0,1,4154	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	NOS1	NM_000620.4,NM_001204213.1,NM_001204214.1,NM_001204218.1	,,,	0,1,6130	AA,AG,GG		0.012,0.0,0.0082	,,,	898/1435,562/1099,562/1099,932/1469	117685282	1,12261	1976	4155	6131	SO:0001819	synonymous_variant	4842				multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding	g.chr12:117685282G>A		CCDS41842.1, CCDS55890.1	12q24.22	2013-09-19			ENSG00000089250	ENSG00000089250	1.14.13.39		7872	protein-coding gene	gene with protein product		163731		NOS		1385308, 7682706	Standard	NM_001204213		Approved	nNOS	uc001twn.2	P29475	OTTHUMG00000137376	ENST00000338101.4:c.2796C>T	12.37:g.117685282G>A						NOS1_ENST00000344089.3_3'UTR|NOS1_ENST00000338101.4_Silent_p.C932C	p.C898C	NM_000620.4|NM_001204218.1	NP_000611.1|NP_001191147.1	P29475	NOS1_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.0561)	18	3379	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		898			Flavodoxin-like.			Silent	SNP	ENST00000338101.4	37	c.2694C>T	CCDS55890.1																																																																																				0.557	NOS1-002	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000268053.1			12	67	0	0	0	1	0	12	67					A	117685282	G	A	117685282	2	1	308	1	0	0	0	0	0	0	0	1	10541	1079	38	1		1	NOS1	12	117685282	Silent	SNP	G	TCGA-KK-A59Z-01A-12D-A26M-08	4244376	117685282	16166613	33	15784											
TUBA3C	7278	broad.mit.edu	37	chr13	19748102	19748102	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggtcctcgcgggcctcagaGaactccccctcctccatgcc	6	7	9	19	2	1	1	1	0	0	1	6	2	5	1	7	2	2	0	7	2	1	0			TCGA-KK-A59Z-01A-12D-A26M-08	TCGA-KK-A59Z-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fb84b2b-2982-40fd-81c4-64892a963f04	5c810244-da67-425d-8315-da8c34d6a16f	g.chr13:19748102G>T	ENST00000400113.3	-	5	1358	c.1254C>A	c.(1252-1254)ttC>ttA	p.F418L		NM_006001.2	NP_005992.1	Q13748	TBA3C_HUMAN	tubulin, alpha 3c	418					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|microtubule-based process (GO:0007017)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(4)|prostate(7)|skin(7)|urinary_tract(1)	72		all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108)		GGGCCTCAGAGAACTCCCCCT	0.587																																						ENST00000400113.3																			0				NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(4)|prostate(7)|skin(7)|urinary_tract(1)	72						c.(1252-1254)ttC>ttA		tubulin, alpha 3c							144	140	141					13																	19748102		2203	4300	6503	SO:0001583	missense	7278				'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity	g.chr13:19748102G>T	AF005392	CCDS9284.1	13q12.11	2007-06-20	2007-02-12	2007-02-12	ENSG00000198033	ENSG00000198033		"Tubulins"	12408	protein-coding gene	gene with protein product		602528	"tubulin, alpha 2"	TUBA2		9465305	Standard	NM_006001		Approved	bA408E5.3	uc009zzj.3	Q13748	OTTHUMG00000016481	ENST00000400113.3:c.1254C>A	13.37:g.19748102G>T	ENSP00000382982:p.Phe418Leu						p.F418L	NM_006001.2	NP_005992.1	Q13748	TBA3C_HUMAN		all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108)	5	1358	-		all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162)	418					A6NJQ0|Q5W099|Q6PEY3|Q96F18	Missense_Mutation	SNP	ENST00000400113.3	37	c.1254C>A	CCDS9284.1	.	.	.	.	.	.	.	.	.	.	g	12.28	1.890675	0.33348	.	.	ENSG00000198033	ENST00000400113	D	0.86694	-2.16	1.22	1.22	0.21188	.	0.000000	0.49916	U	0.000124	D	0.88676	0.6501	.	.	.	0.44627	D	0.9976	.	.	.	.	.	.	D	0.87827	0.2642	7	0.87932	D	0	.	8.3643	0.32378	0.0:0.0:1.0:0.0	.	.	.	.	L	418	ENSP00000382982:F418L	ENSP00000382982:F418L	F	-	3	2	TUBA3C	18646102	1.000000	0.71417	0.992000	0.48379	0.415000	0.31203	4.209000	0.58493	0.982000	0.38575	0.194000	0.17425	TTC		0.587	TUBA3C-002	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044007.2	NM_006001		16	211	1	0	1.15088e-07	1	1.2555e-07	16	211					T	19748102	G	T	19748102	3	4	308	1	0	0	0	0	1	0	0	0	16743	933	33	5	102	5	TUBA3C	13	19748102	Missense_Mutation	SNP	G	TCGA-KK-A59Z-01A-12D-A26M-08		19748102	95421776	34	15785											
SACS	26278	broad.mit.edu	37	chr13	23912565	23912565	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcaagtacacagaagccacGtggtacactctactgttttc	11	11	8	11	1	1	1	0	0	1	1	2	1	1	1	1	1	5	4	1	1	5	5			TCGA-KK-A59Z-01A-12D-A26M-08	TCGA-KK-A59Z-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fb84b2b-2982-40fd-81c4-64892a963f04	5c810244-da67-425d-8315-da8c34d6a16f	g.chr13:23912565G>A	ENST00000382292.3	-	9	5723	c.5450C>T	c.(5449-5451)aCg>aTg	p.T1817M	SACS_ENST00000402364.1_Missense_Mutation_p.T1067M|SACS_ENST00000382298.3_Missense_Mutation_p.T1817M			Q9NZJ4	SACS_HUMAN	sacsin molecular chaperone	1817					cell death (GO:0008219)|negative regulation of inclusion body assembly (GO:0090084)|protein folding (GO:0006457)	axon (GO:0030424)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chaperone binding (GO:0051087)|Hsp70 protein binding (GO:0030544)|proteasome binding (GO:0070628)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		CAGAAGCCACGTGGTACACTC	0.488																																						ENST00000382298.3																			0				NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189						c.(5449-5451)aCg>aTg		spastic ataxia of Charlevoix-Saguenay (sacsin)							129	126	127					13																	23912565		2203	4299	6502	SO:0001583	missense	26278				cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding	g.chr13:23912565G>A	AF193556	CCDS9300.2	13q11	2014-06-13	2014-01-30		ENSG00000151835	ENSG00000151835		"Heat shock proteins / DNAJ (HSP40)"	10519	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 138"	604490	"spastic ataxia of Charlevoix-Saguenay (sacsin)"			10610707, 15057823, 21726565	Standard	NM_001278055		Approved	ARSACS, KIAA0730, DKFZp686B15167, DNAJC29, SPAX6, PPP1R138	uc001uon.3	Q9NZJ4	OTTHUMG00000016562	ENST00000382292.3:c.5450C>T	13.37:g.23912565G>A	ENSP00000371729:p.Thr1817Met					SACS_ENST00000382292.3_Missense_Mutation_p.T1817M|SACS_ENST00000402364.1_Missense_Mutation_p.T1067M	p.T1817M	NM_014363.4	NP_055178.3	Q9NZJ4	SACS_HUMAN		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)	10	6038	-		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)	1817					O94835|Q5T9J5|Q5T9J7|Q5T9J8|Q68DF5|Q6MZR4|Q8NBF9	Missense_Mutation	SNP	ENST00000382292.3	37	c.5450C>T	CCDS9300.2	.	.	.	.	.	.	.	.	.	.	G	20.1	3.932816	0.73442	.	.	ENSG00000151835	ENST00000382292;ENST00000402364;ENST00000382298	D;D;D	0.87809	-2.14;-2.3;-2.14	5.75	4.91	0.64330	.	0.113256	0.64402	D	0.000009	D	0.82518	0.5054	L	0.51422	1.61	0.29633	N	0.845311	P	0.34562	0.457	B	0.24269	0.052	T	0.80324	-0.1430	10	0.66056	D	0.02	.	15.0511	0.71872	0.0683:0.0:0.9317:0.0	.	1817	Q9NZJ4	SACS_HUMAN	M	1817;1067;1817	ENSP00000371729:T1817M;ENSP00000385844:T1067M;ENSP00000371735:T1817M	ENSP00000371729:T1817M	T	-	2	0	SACS	22810565	1.000000	0.71417	0.959000	0.39883	0.967000	0.64934	4.915000	0.63355	1.435000	0.47434	0.591000	0.81541	ACG		0.488	SACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044148.3	NM_014363		31	106	0	0	0	1	0	31	106					A	23912565	G	A	23912565	3	1	308	1	0	0	0	0	1	0	0	0	13804	1145	40	1	8293	1	SACS	13	23912565	Missense_Mutation	SNP	G	TCGA-KK-A59Z-01A-12D-A26M-08	4164463	23912565	91257313	35	15786											
SACS	26278	broad.mit.edu	37	chr13	23914964	23914967	+	Frame_Shift_Del	DEL	AAGG	AAGG	-																															ttaagagaagatagattctcAaggacccataacataagctg																										TCGA-KK-A59Z-01A-12D-A26M-08	TCGA-KK-A59Z-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fb84b2b-2982-40fd-81c4-64892a963f04	5c810244-da67-425d-8315-da8c34d6a16f	g.chr13:23914964_23914967delAAGG	ENST00000382292.3	-	9	3321_3324	c.3048_3051delCCTT	c.(3046-3051)gtccttfs	p.VL1016fs	SACS_ENST00000402364.1_Frame_Shift_Del_p.VL266fs|SACS_ENST00000382298.3_Frame_Shift_Del_p.VL1016fs			Q9NZJ4	SACS_HUMAN	sacsin molecular chaperone	1016					cell death (GO:0008219)|negative regulation of inclusion body assembly (GO:0090084)|protein folding (GO:0006457)	axon (GO:0030424)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chaperone binding (GO:0051087)|Hsp70 protein binding (GO:0030544)|proteasome binding (GO:0070628)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		ATAGATTCTCAAGGACCCATAACA	0.343																																						ENST00000382298.3																			0				NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189						c.(3046-3051)gtfs		spastic ataxia of Charlevoix-Saguenay (sacsin)																																				SO:0001589	frameshift_variant	26278				cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding	g.chr13:23914964_23914967delAAGG	AF193556	CCDS9300.2	13q11	2014-06-13	2014-01-30		ENSG00000151835	ENSG00000151835		"Heat shock proteins / DNAJ (HSP40)"	10519	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 138"	604490	"spastic ataxia of Charlevoix-Saguenay (sacsin)"			10610707, 15057823, 21726565	Standard	NM_001278055		Approved	ARSACS, KIAA0730, DKFZp686B15167, DNAJC29, SPAX6, PPP1R138	uc001uon.3	Q9NZJ4	OTTHUMG00000016562	ENST00000382292.3:c.3048_3051delCCTT	13.37:g.23914964_23914967delAAGG	ENSP00000371729:p.Val1016fs					SACS_ENST00000402364.1_Frame_Shift_Del_p.VL266fs|SACS_ENST00000382292.3_Frame_Shift_Del_p.VL1016fs	p.VL1016fs	NM_014363.4	NP_055178.3	Q9NZJ4	SACS_HUMAN		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)	10	3636_3639	-		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)	1016					O94835|Q5T9J5|Q5T9J7|Q5T9J8|Q68DF5|Q6MZR4|Q8NBF9	Frame_Shift_Del	DEL	ENST00000382292.3	37	c.3048_3051delCCTT	CCDS9300.2																																																																																				0.343	SACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044148.3	NM_014363		35	73						35	73	---	---	---	---	-	23914967	AAGG	-	23914964	7	5	308	1	0	1	0	1	0	0	0	0	13804	117	5	0	10692	0	SACS	13	23914964	Frame_Shift_Del	DEL	AAGG	TCGA-KK-A59Z-01A-12D-A26M-08	2399	23914964	91254914	36	15787											
RXFP2	122042	broad.mit.edu	37	chr13	32371547	32371547	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tcctttccctcttccgggtgGaaataccaggtcagtctctt	6	14	8	13	1	3	0	1	0	2	0	7	1	6	1	4	3	1	0	4	3	2	4			TCGA-KK-A59Z-01A-12D-A26M-08	TCGA-KK-A59Z-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fb84b2b-2982-40fd-81c4-64892a963f04	5c810244-da67-425d-8315-da8c34d6a16f	g.chr13:32371547G>A	ENST00000298386.2	+	17	2067	c.1996G>A	c.(1996-1998)Gaa>Aaa	p.E666K	RXFP2_ENST00000380314.1_Missense_Mutation_p.E642K	NM_130806.3	NP_570718.1	Q8WXD0	RXFP2_HUMAN	relaxin/insulin-like family peptide receptor 2	666					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|male gonad development (GO:0008584)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|oocyte maturation (GO:0001556)|positive regulation of cAMP biosynthetic process (GO:0030819)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	peptide hormone binding (GO:0017046)|protein-hormone receptor activity (GO:0016500)			cervix(1)|endometrium(2)|large_intestine(15)|lung(13)|prostate(1)|stomach(1)	33		Lung SC(185;0.0262)		all cancers(112;0.000559)|Epithelial(112;0.0017)|OV - Ovarian serous cystadenocarcinoma(117;0.0145)|BRCA - Breast invasive adenocarcinoma(63;0.0535)		CTTCCGGGTGGAAATACCAGG	0.408																																						ENST00000298386.2																			0				cervix(1)|endometrium(2)|large_intestine(15)|lung(13)|prostate(1)|stomach(1)	33						c.(1996-1998)Gaa>Aaa		relaxin/insulin-like family peptide receptor 2							141	136	138					13																	32371547		2203	4300	6503	SO:0001583	missense	122042					integral to membrane|plasma membrane		g.chr13:32371547G>A	AF403384	CCDS9342.1, CCDS53862.1	13q12.3	2012-08-08	2006-05-09	2006-05-09	ENSG00000133105	ENSG00000133105		"GPCR / Class A : Relaxin family peptide receptors"	17318	protein-coding gene	gene with protein product		606655	"leucine-rich repeat-containing G protein-coupled receptor 8"	LGR8		12217959, 12970298, 15956688, 16507880	Standard	NM_130806		Approved	GREAT, GPR106, INSL3R, RXFPR2	uc001utt.3	Q8WXD0	OTTHUMG00000016690	ENST00000298386.2:c.1996G>A	13.37:g.32371547G>A	ENSP00000298386:p.Glu666Lys					RXFP2_ENST00000380314.1_Missense_Mutation_p.E642K	p.E666K	NM_130806.3	NP_570718.1	Q8WXD0	RXFP2_HUMAN		all cancers(112;0.000559)|Epithelial(112;0.0017)|OV - Ovarian serous cystadenocarcinoma(117;0.0145)|BRCA - Breast invasive adenocarcinoma(63;0.0535)	17	2067	+		Lung SC(185;0.0262)	666					B1ALE9|Q3KU23	Missense_Mutation	SNP	ENST00000298386.2	37	c.1996G>A	CCDS9342.1	.	.	.	.	.	.	.	.	.	.	G	31	5.068301	0.93950	.	.	ENSG00000133105	ENST00000380314;ENST00000298386	T;T	0.71934	-0.61;-0.61	5.42	5.42	0.78866	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.80549	0.4644	L	0.58669	1.825	0.58432	D	0.999999	D;D	0.56035	0.974;0.974	P;P	0.60609	0.877;0.877	T	0.78445	-0.2201	10	0.37606	T	0.19	.	19.2083	0.93744	0.0:0.0:1.0:0.0	.	642;666	Q3KU23;Q8WXD0	.;RXFP2_HUMAN	K	642;666	ENSP00000369670:E642K;ENSP00000298386:E666K	ENSP00000298386:E666K	E	+	1	0	RXFP2	31269547	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.297000	0.78799	2.563000	0.86464	0.655000	0.94253	GAA		0.408	RXFP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000044399.1	NM_130806		21	28	0	0	0	1	0	21	28					A	32371547	G	A	32371547	3	1	308	1	0	0	0	0	1	0	0	0	13760	1175	41	3	2062	3	RXFP2	13	32371547	Missense_Mutation	SNP	G	TCGA-KK-A59Z-01A-12D-A26M-08	8456583	32371547	82798331	37	15788											
PIBF1	10464	broad.mit.edu	37	chr13	73396007	73396007	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	acatatgaggaagatcgaaaAaactactctgaagttcaaat	19	9	7	6	1	2	3	1	2	1	1	3	5	2	4	0	1	2	1	0	1	8	3			TCGA-KK-A59Z-01A-12D-A26M-08	TCGA-KK-A59Z-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fb84b2b-2982-40fd-81c4-64892a963f04	5c810244-da67-425d-8315-da8c34d6a16f	g.chr13:73396007A>G	ENST00000326291.6	+	6	1031	c.693A>G	c.(691-693)aaA>aaG	p.K231K		NM_006346.2	NP_006337.2	Q8WXW3	PIBF1_HUMAN	progesterone immunomodulatory binding factor 1	231						centrosome (GO:0005813)				breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	24		Prostate(6;0.00191)|Breast(118;0.0736)|Acute lymphoblastic leukemia(28;0.0865)		GBM - Glioblastoma multiforme(99;0.000664)		AAGATCGAAAAAACTACTCTG	0.348																																						ENST00000326291.6																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	24						c.(691-693)aaA>aaG		progesterone immunomodulatory binding factor 1							73	68	70					13																	73396007		2203	4300	6503	SO:0001819	synonymous_variant	10464					centrosome		g.chr13:73396007A>G	AF330046	CCDS31991.1	13q21.33	2014-02-20	2007-10-17	2007-10-17	ENSG00000083535	ENSG00000083535			23352	protein-coding gene	gene with protein product	"progesterone-induced blocking factor 1"	607532	"chromosome 13 open reading frame 24"	C13orf24		11935316	Standard	NM_006346		Approved	CEP90	uc001vjc.3	Q8WXW3	OTTHUMG00000017071	ENST00000326291.6:c.693A>G	13.37:g.73396007A>G							p.K231K	NM_006346.2	NP_006337.2	Q8WXW3	PIBF1_HUMAN		GBM - Glioblastoma multiforme(99;0.000664)	6	1031	+		Prostate(6;0.00191)|Breast(118;0.0736)|Acute lymphoblastic leukemia(28;0.0865)	231					O95664|Q6U9V2|Q6UG50|Q86V07|Q96SF4	Silent	SNP	ENST00000326291.6	37	c.693A>G	CCDS31991.1																																																																																				0.348	PIBF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045255.1	NM_006346		11	7	0	0	0	1	0	11	7					G	73396007	A	G	73396007	2	3	308	1	0	0	0	0	0	0	0	1	11879	11	1	4		4	PIBF1	13	73396007	Silent	SNP	A	TCGA-KK-A59Z-01A-12D-A26M-08	41024460	73396007	41773871	38	15789											
DACT1	51339	broad.mit.edu	37	chr14	59112126	59112126	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtgtgatctggtgtctaaaaAcgggaatgatgtatatcgct	11	13	12	5	2	2	2	0	2	2	0	3	3	2	3	0	2	1	2	0	2	6	3			TCGA-KK-A59Z-01A-12D-A26M-08	TCGA-KK-A59Z-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fb84b2b-2982-40fd-81c4-64892a963f04	5c810244-da67-425d-8315-da8c34d6a16f	g.chr14:59112126A>T	ENST00000335867.4	+	4	809	c.785A>T	c.(784-786)aAc>aTc	p.N262I	DACT1_ENST00000541264.2_De_novo_Start_OutOfFrame|DACT1_ENST00000555845.1_3'UTR|DACT1_ENST00000395153.3_Missense_Mutation_p.N225I|DACT1_ENST00000556859.1_De_novo_Start_OutOfFrame			Q9NYF0	DACT1_HUMAN	dishevelled-binding antagonist of beta-catenin 1	262					dendrite morphogenesis (GO:0048813)|embryonic hindgut morphogenesis (GO:0048619)|gastrulation with mouth forming second (GO:0001702)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of JNK cascade (GO:0046329)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of Wnt signaling pathway (GO:0030178)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of catenin import into nucleus (GO:0035412)|regulation of protein stability (GO:0031647)|regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000095)|synapse organization (GO:0050808)|Wnt signaling pathway (GO:0016055)	beta-catenin destruction complex (GO:0030877)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|synapse (GO:0045202)	beta-catenin binding (GO:0008013)|delta-catenin binding (GO:0070097)|protein kinase A binding (GO:0051018)|protein kinase C binding (GO:0005080)			endometrium(7)|kidney(3)|large_intestine(11)|lung(27)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	53						GTGTCTAAAAACGGGAATGAT	0.493																																						ENST00000395151.3																			0				endometrium(7)|kidney(3)|large_intestine(11)|lung(27)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	53								dishevelled-binding antagonist of beta-catenin 1							173	158	163					14																	59112126		2203	4300	6503	SO:0001583	missense	51339				multicellular organismal development|Wnt receptor signaling pathway	cytoplasm|nucleus		g.chr14:59112126A>T	AF251079	CCDS9736.1, CCDS41961.1	14q22.3	2013-05-15	2013-05-15		ENSG00000165617	ENSG00000165617			17748	protein-coding gene	gene with protein product		607861	"dapper homolog 1, antagonist of beta-catenin (xenopus)", "dapper, antagonist of beta-catenin, homolog 1 (Xenopus laevis)"			11970895	Standard	NM_001079520		Approved	DAPPER1, THYEX3, HDPR1, DAPPER, FRODO	uc001xdw.3	Q9NYF0	OTTHUMG00000140324	ENST00000335867.4:c.785A>T	14.37:g.59112126A>T	ENSP00000337439:p.Asn262Ile					DACT1_ENST00000335867.4_Missense_Mutation_p.N262I|DACT1_ENST00000555845.1_3'UTR|DACT1_ENST00000541264.2_De_novo_Start_OutOfFrame|DACT1_ENST00000395153.3_Missense_Mutation_p.N225I|DACT1_ENST00000556859.1_De_novo_Start_OutOfFrame				Q9NYF0	DACT1_HUMAN			0	401	+								A8MYJ2|Q86TY0	Translation_Start_Site	SNP	ENST00000335867.4	37		CCDS9736.1	.	.	.	.	.	.	.	.	.	.	A	17.65	3.443273	0.63067	.	.	ENSG00000165617	ENST00000395153;ENST00000335867	T;T	0.51817	0.69;0.69	5.71	5.71	0.89125	.	0.047075	0.85682	D	0.000000	T	0.69405	0.3107	M	0.73598	2.24	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.73375	-0.4002	10	0.87932	D	0	-29.5528	15.979	0.80091	1.0:0.0:0.0:0.0	.	225;262	A8MYJ2;Q9NYF0	.;DACT1_HUMAN	I	225;262	ENSP00000378582:N225I;ENSP00000337439:N262I	ENSP00000337439:N262I	N	+	2	0	DACT1	58181879	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	5.732000	0.68563	2.182000	0.69389	0.460000	0.39030	AAC		0.493	DACT1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000325515.1	NM_016651		9	66	0	0	0	1	0	9	66					T	59112126	A	T	59112126	3	4	308	1	0	0	0	0	1	0	0	0	4222	43	2	5	799	5	DACT1	14	59112126	Missense_Mutation	SNP	A	TCGA-KK-A59Z-01A-12D-A26M-08		59112126	48237414	39	15790											
MTA1	9112	broad.mit.edu	37	chr14	105936451	105936451	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaccaagcgtgctgcccgcCggccctacaagcccatcgcc	9	4	9	19	4	0	0	0	0	0	0	1	0	0	0	6	1	6	1	6	1	4	1			TCGA-KK-A59Z-01A-12D-A26M-08	TCGA-KK-A59Z-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fb84b2b-2982-40fd-81c4-64892a963f04	5c810244-da67-425d-8315-da8c34d6a16f	g.chr14:105936451C>T	ENST00000331320.7	+	21	2261	c.2047C>T	c.(2047-2049)Cgg>Tgg	p.R683W	RP11-521B24.5_ENST00000552675.1_RNA|MTA1_ENST00000435036.2_Missense_Mutation_p.R223W|CRIP2_ENST00000483017.3_5'Flank|MTA1_ENST00000406191.1_Missense_Mutation_p.R671W|MTA1_ENST00000405646.1_Missense_Mutation_p.R666W	NM_001203258.1|NM_004689.3	NP_001190187.1|NP_004680.2	Q13330	MTA1_HUMAN	metastasis associated 1	683					circadian regulation of gene expression (GO:0032922)|double-strand break repair (GO:0006302)|entrainment of circadian clock by photoperiod (GO:0043153)|locomotor rhythm (GO:0045475)|positive regulation of protein autoubiquitination (GO:1902499)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|regulation of gene expression, epigenetic (GO:0040029)|regulation of inflammatory response (GO:0050727)|response to ionizing radiation (GO:0010212)|response to lipopolysaccharide (GO:0032496)|secretory granule organization (GO:0033363)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|intracellular membrane-bounded organelle (GO:0043231)|microtubule (GO:0005874)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	chromatin binding (GO:0003682)|core promoter binding (GO:0001047)|core promoter sequence-specific DNA binding (GO:0001046)|RNA polymerase II repressing transcription factor binding (GO:0001103)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|stomach(1)	14		all_cancers(154;0.0293)|all_epithelial(191;0.128)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00897)|Epithelial(46;0.026)	Epithelial(152;0.19)		TGCTGCCCGCCGGCCCTACAA	0.701																																						ENST00000331320.7																			0				breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|stomach(1)	14						c.(2047-2049)Cgg>Tgg		metastasis associated 1							50	41	44					14																	105936451		2198	4294	6492	SO:0001583	missense	9112				signal transduction	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr14:105936451C>T	U35113	CCDS32169.1, CCDS55954.1	14q32.33	2013-01-25			ENSG00000182979	ENSG00000182979		"GATA zinc finger domain containing"	7410	protein-coding gene	gene with protein product		603526				8083195, 7607577	Standard	NM_004689		Approved		uc001yqx.3	Q13330	OTTHUMG00000150362	ENST00000331320.7:c.2047C>T	14.37:g.105936451C>T	ENSP00000333633:p.Arg683Trp					MTA1_ENST00000406191.1_Missense_Mutation_p.R671W|MTA1_ENST00000405646.1_Missense_Mutation_p.R666W|RP11-521B24.5_ENST00000552675.1_RNA|MTA1_ENST00000435036.2_Missense_Mutation_p.R223W	p.R683W	NM_001203258.1|NM_004689.3	NP_001190187.1|NP_004680.2	Q13330	MTA1_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.00897)|Epithelial(46;0.026)	Epithelial(152;0.19)	21	2261	+		all_cancers(154;0.0293)|all_epithelial(191;0.128)|Melanoma(154;0.155)	683					A5PLK4|Q86SW2|Q8NFI8|Q96GI8	Missense_Mutation	SNP	ENST00000331320.7	37	c.2047C>T	CCDS32169.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.3|21.3	4.130440|4.130440	0.77549|0.77549	.|.	.|.	ENSG00000182979|ENSG00000182979	ENST00000494981|ENST00000414153;ENST00000331320;ENST00000406191;ENST00000405646;ENST00000434050;ENST00000435036;ENST00000426567	.|T;T;T;T;T;T	.|0.53206	.|1.29;1.37;1.29;1.27;0.67;0.63	4.73|4.73	1.77|1.77	0.24775|0.24775	.|.	.|0.143809	.|0.48286	.|D	.|0.000193	T|T	0.55721|0.55721	0.1938|0.1938	L|L	0.39898|0.39898	1.24|1.24	0.49798|0.49798	D|D	0.999824|0.999824	.|D;D	.|0.89917	.|0.999;1.0	.|P;D	.|0.65684	.|0.842;0.937	T|T	0.55786|0.55786	-0.8086|-0.8086	5|10	.|0.87932	.|D	.|0	-26.4545|-26.4545	12.9875|12.9875	0.58599|0.58599	0.3196:0.6804:0.0:0.0|0.3196:0.6804:0.0:0.0	.|.	.|479;683	.|Q59FW1;Q13330	.|.;MTA1_HUMAN	L|W	109|596;683;671;666;479;223;95	.|ENSP00000333633:R683W;ENSP00000385702:R671W;ENSP00000384180:R666W;ENSP00000394106:R479W;ENSP00000389425:R223W;ENSP00000395371:R95W	.|ENSP00000333633:R683W	P|R	+|+	2|1	0|2	MTA1|MTA1	105007496|105007496	0.997000|0.997000	0.39634|0.39634	1.000000|1.000000	0.80357|0.80357	0.981000|0.981000	0.71138|0.71138	1.414000|1.414000	0.34736|0.34736	0.061000|0.061000	0.16311|0.16311	0.491000|0.491000	0.48974|0.48974	CCG|CGG		0.701	MTA1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000317849.15			5	106	0	0	0	1	0	5	106					T	105936451	C	T	105936451	3	4	308	1	0	0	0	0	1	0	0	0	9908	643	23	2	2129	2	MTA1	14	105936451	Missense_Mutation	SNP	C	TCGA-KK-A59Z-01A-12D-A26M-08	46824325	105936451	1413089	40	15791											
VPS39	23339	broad.mit.edu	37	chr15	42456581	42456581	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	aagggaaaatcacagatgagCcggcctggatcatagtagct	14	7	12	8	1	2	2	2	1	0	1	2	4	2	4	2	3	2	2	2	3	5	2			TCGA-KK-A59Z-01A-12D-A26M-08	TCGA-KK-A59Z-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fb84b2b-2982-40fd-81c4-64892a963f04	5c810244-da67-425d-8315-da8c34d6a16f	g.chr15:42456581C>T	ENST00000348544.4	-	20	2033	c.2034G>A	c.(2032-2034)cgG>cgA	p.R678R	VPS39_ENST00000318006.5_Silent_p.R667R			Q96JC1	VPS39_HUMAN	vacuolar protein sorting 39 homolog (S. cerevisiae)	678					intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	endosome (GO:0005768)|HOPS complex (GO:0030897)|lysosomal membrane (GO:0005765)	small GTPase regulator activity (GO:0005083)			breast(2)|kidney(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		all_cancers(109;6.78e-16)|all_epithelial(112;1.81e-14)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;3.05e-06)		CACAGATGAGCCGGCCTGGAT	0.507																																						ENST00000318006.5																			0				breast(2)|kidney(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						c.(1999-2001)cgG>cgA		vacuolar protein sorting 39 homolog (S. cerevisiae)							73	79	77					15																	42456581		2203	4299	6502	SO:0001819	synonymous_variant	23339				protein transport	HOPS complex|late endosome membrane|lysosomal membrane	small GTPase regulator activity	g.chr15:42456581C>T	AF280814	CCDS10083.1, CCDS73710.1	15q14	2008-02-05	2006-12-19		ENSG00000166887	ENSG00000166887			20593	protein-coding gene	gene with protein product		612188	"vacuolar protein sorting 39 (yeast)"			11448994	Standard	XM_005254259		Approved	KIAA0770, VAM6	uc001zpc.3	Q96JC1	OTTHUMG00000130467	ENST00000348544.4:c.2034G>A	15.37:g.42456581C>T						VPS39_ENST00000348544.4_Silent_p.R678R	p.R667R	NM_015289.2	NP_056104.2	Q96JC1	VPS39_HUMAN		GBM - Glioblastoma multiforme(94;3.05e-06)	19	2163	-		all_cancers(109;6.78e-16)|all_epithelial(112;1.81e-14)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)	678					O94869|Q71SQ6|Q7Z3V3|Q96B93|Q96RM0	Silent	SNP	ENST00000348544.4	37	c.2001G>A	CCDS10083.1																																																																																				0.507	VPS39-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000420472.1	NM_015289		6	40	0	0	0	1	0	6	40					T	42456581	C	T	42456581	2	4	308	1	0	0	0	0	0	0	0	1	17206	726	26	3		3	VPS39	15	42456581	Silent	SNP	C	TCGA-KK-A59Z-01A-12D-A26M-08		42456581	60074811	41	15792											
SLC24A5	283652	broad.mit.edu	37	chr15	48431347	48431347	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	atatccgcatttacatatatCctggtttggatggtcacaat	11	15	7	8	1	1	0	1	0	0	0	3	1	3	1	2	3	1	2	2	3	5	6			TCGA-KK-A59Z-01A-12D-A26M-08	TCGA-KK-A59Z-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fb84b2b-2982-40fd-81c4-64892a963f04	5c810244-da67-425d-8315-da8c34d6a16f	g.chr15:48431347C>A	ENST00000341459.3	+	7	1126	c.1053C>A	c.(1051-1053)atC>atA	p.I351I	SLC24A5_ENST00000449382.2_Silent_p.I291I	NM_205850.2	NP_995322.1	Q71RS6	NCKX5_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 5	351					ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|negative regulation of melanin biosynthetic process (GO:0048022)|response to stimulus (GO:0050896)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	calcium, potassium:sodium antiporter activity (GO:0008273)|symporter activity (GO:0015293)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|skin(1)|upper_aerodigestive_tract(1)	27		all_lung(180;0.00217)		all cancers(107;3.29e-10)|GBM - Glioblastoma multiforme(94;7.32e-07)		TTACATATATCCTGGTTTGGA	0.303																																						ENST00000341459.3																			0				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|skin(1)|upper_aerodigestive_tract(1)	27						c.(1051-1053)atC>atA		solute carrier family 24 (sodium/potassium/calcium exchanger), member 5							102	101	102					15																	48431347		2197	4290	6487	SO:0001819	synonymous_variant	283652				response to stimulus	integral to membrane|melanosome|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity	g.chr15:48431347C>A	AF348468	CCDS10128.1	15q21.1	2014-01-28	2013-07-18		ENSG00000188467	ENSG00000188467		"Solute carriers"	20611	protein-coding gene	gene with protein product	"oculocutaneous albinism 6 (autosomal recessive)"	609802	"solute carrier family 24, member 5"			23364476	Standard	XM_005254308		Approved	JSX, OCA6	uc001zwe.3	Q71RS6	OTTHUMG00000131494	ENST00000341459.3:c.1053C>A	15.37:g.48431347C>A						SLC24A5_ENST00000449382.2_Silent_p.I291I	p.I351I	NM_205850.2	NP_995322.1	Q71RS6	NCKX5_HUMAN		all cancers(107;3.29e-10)|GBM - Glioblastoma multiforme(94;7.32e-07)	7	1126	+		all_lung(180;0.00217)	351					A5X8Z8|A5X8Z9|Q14CT4|Q6DKH3	Silent	SNP	ENST00000341459.3	37	c.1053C>A	CCDS10128.1																																																																																				0.303	SLC24A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254340.2	NM_205850		17	13	1	0	8.34094e-07	1	8.86884e-07	17	13					A	48431347	C	A	48431347	2	1	308	1	0	0	0	0	0	0	0	1	14469	845	30	5		5	SLC24A5	15	48431347	Silent	SNP	C	TCGA-KK-A59Z-01A-12D-A26M-08	5974766	48431347	54100045	42	15793											
PALB2	79728	broad.mit.edu	37	chr16	23640966	23640966	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggaaatggattgtacctgttCgacggaatgtttatgcagct	10	13	12	6	2	0	0	0	0	0	0	1	4	0	3	1	3	3	5	1	3	4	5	rs587778587|rs587782697		TCGA-KK-A59Z-01A-12D-A26M-08	TCGA-KK-A59Z-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fb84b2b-2982-40fd-81c4-64892a963f04	5c810244-da67-425d-8315-da8c34d6a16f	g.chr16:23640966C>T	ENST00000261584.4	-	5	2661	c.2509G>A	c.(2509-2511)Gaa>Aaa	p.E837K		NM_024675.3	NP_078951.2	Q86YC2	PALB2_HUMAN	partner and localizer of BRCA2	837	Required for interaction with POLH and POLH DNA synthesis stimulation.				DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|inner cell mass cell proliferation (GO:0001833)|mesoderm development (GO:0007498)|negative regulation of apoptotic process (GO:0043066)|organ morphogenesis (GO:0009887)|post-anal tail morphogenesis (GO:0036342)|somitogenesis (GO:0001756)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(3)	55				GBM - Glioblastoma multiforme(48;0.0167)		TGTACCTGTTCGACGGAATGT	0.448			"F, N, Mis"			"Wilms tumor, medulloblastoma, AML ,breast"		Involved in tolerance or repair of DNA crosslinks																														ENST00000261584.4			yes	Rec		"Fanconi anaemia N, breast cancer susceptibility "	16	16p12.1	79728	"F, N, Mis"	partner and localizer of BRCA2			"L, O, E"		"Wilms tumor, medulloblastoma, AML ,breast"			0				breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(3)	55						c.(2509-2511)Gaa>Aaa	Involved in tolerance or repair of DNA crosslinks	partner and localizer of BRCA2							72	75	74					16																	23640966		2197	4300	6497	SO:0001583	missense	79728				double-strand break repair via homologous recombination	nucleoplasm	DNA binding|protein binding	g.chr16:23640966C>T		CCDS32406.1	16p12.1	2014-09-17				ENSG00000083093		"Fanconi anemia, complementation groups"	26144	protein-coding gene	gene with protein product	"Fanconi anemia, complementation group N"	610355				16793542, 17200672	Standard	NM_024675		Approved	FLJ21816, FANCN	uc002dlx.1	Q86YC2		ENST00000261584.4:c.2509G>A	16.37:g.23640966C>T	ENSP00000261584:p.Glu837Lys						p.E837K	NM_024675.3	NP_078951.2	Q86YC2	PALB2_HUMAN		GBM - Glioblastoma multiforme(48;0.0167)	5	2661	-			837					A6NIE1|Q8N7Y6|Q8ND31|Q9H6W1	Missense_Mutation	SNP	ENST00000261584.4	37	c.2509G>A	CCDS32406.1	.	.	.	.	.	.	.	.	.	.	C	5.354	0.250660	0.10130	.	.	ENSG00000083093	ENST00000261584	T	0.15834	2.39	5.45	2.43	0.29744	.	0.161391	0.43919	D	0.000512	T	0.12774	0.0310	L	0.56769	1.78	0.31446	N	0.671316	P	0.49307	0.922	B	0.34590	0.186	T	0.18493	-1.0335	10	0.45353	T	0.12	-20.9525	7.2199	0.25981	0.0:0.5781:0.335:0.0869	.	837	Q86YC2	PALB2_HUMAN	K	837	ENSP00000261584:E837K	ENSP00000261584:E837K	E	-	1	0	PALB2	23548467	0.137000	0.22531	0.672000	0.29872	0.040000	0.13550	0.349000	0.20055	0.922000	0.37019	-0.150000	0.13652	GAA		0.448	PALB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435287.2	NM_024675		7	36	0	0	0	1	0	7	36					T	23640966	C	T	23640966	3	4	308	1	0	0	0	0	1	0	0	0	11406	893	31	2	1087	2	PALB2	16	23640966	Missense_Mutation	SNP	C	TCGA-KK-A59Z-01A-12D-A26M-08		23640966	66713787	43	15794											
IL27	55911	broad.mit.edu	37	chr16	28511176	28511178	+	IGR	DEL	CTC	CTC	-																															cctgggagcagccccttcctCtcctcctcctcctcctcctc																										TCGA-KK-A59Z-01A-12D-A26M-08	TCGA-KK-A59Z-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fb84b2b-2982-40fd-81c4-64892a963f04	5c810244-da67-425d-8315-da8c34d6a16f	g.chr16:28511176_28511178delCTC	ENST00000431282.1	+	0	3414				IL27_ENST00000356897.1_In_Frame_Del_p.E176del			Q0VD83	APOBR_HUMAN	apolipoprotein B receptor						cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)|triglyceride metabolic process (GO:0006641)	chylomicron (GO:0042627)|low-density lipoprotein particle (GO:0034362)|membrane (GO:0016020)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	very-low-density lipoprotein particle receptor activity (GO:0030229)			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|skin(2)|stomach(1)	29						GCCCCTtcctctcctcctcctcc	0.685																																						ENST00000356897.1																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)	10						c.(526-528)del		interleukin 27																																				SO:0001628	intergenic_variant	246778				inflammatory response|innate immune response|positive regulation of interferon-gamma biosynthetic process|regulation of defense response to virus|regulation of T cell proliferation|regulation of T-helper 1 cell differentiation	extracellular space	cytokine activity|interleukin-27 receptor binding	g.chr16:28511176_28511178delCTC	AK025123	CCDS58442.1	16p11.2	2011-02-14			ENSG00000184730	ENSG00000184730			24087	protein-coding gene	gene with protein product	"apolipoprotein B48 receptor", "apolipoprotein B100 receptor"	605220				10852956	Standard	NM_018690		Approved	APOB48R, APOB100R	uc002dqb.2	Q0VD83			16.37:g.28511185_28511187delCTC							p.E176del	NM_145659.3	NP_663634.2	Q8NEV9	IL27A_HUMAN			5	548_550	-			176			Glu-rich.		H3BU97|Q0VD81|Q8NC15|Q9NPJ9	In_Frame_Del	DEL	ENST00000431282.1	37	c.526_528delGAG																																																																																					0.685	APOBR-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_182804		2	4						2	4	---	---	---	---	-	28511178	CTC	-	28511176	6	5	308	0	1	1	0	1	0	0	0	0	7680	912	32	0		0	IL27	16	28511176	IGR	DEL	CTC	TCGA-KK-A59Z-01A-12D-A26M-08	4870210	28511176	61843577	44	15795											
ITGAM	3684	broad.mit.edu	37	chr16	31277424	31277424	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gctctgcttcctgtttggatCcaacctacggcagcagcccc	6	10	9	16	1	1	0	0	0	1	0	3	1	3	1	5	2	5	5	5	2	2	3			TCGA-KK-A59Z-01A-12D-A26M-08	TCGA-KK-A59Z-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fb84b2b-2982-40fd-81c4-64892a963f04	5c810244-da67-425d-8315-da8c34d6a16f	g.chr16:31277424C>T	ENST00000287497.8	+	5	458	c.383C>T	c.(382-384)tCc>tTc	p.S128F	ITGAM_ENST00000544665.3_Missense_Mutation_p.S128F|RNU7-199P_ENST00000517067.1_RNA			P11215	ITAM_HUMAN	integrin, alpha M (complement component 3 receptor 3 subunit)	128					activated T cell proliferation (GO:0050798)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cellular extravasation (GO:0045123)|ectodermal cell differentiation (GO:0010668)|extracellular matrix organization (GO:0030198)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte migration involved in inflammatory response (GO:0002523)|microglia development (GO:0014005)|neutrophil chemotaxis (GO:0030593)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integrin complex (GO:0008305)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	glycoprotein binding (GO:0001948)|heparin binding (GO:0008201)|metal ion binding (GO:0046872)			endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(1)|prostate(4)|skin(1)	56						CTGTTTGGATCCAACCTACGG	0.612																																						ENST00000544665.3																			0				endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(1)|prostate(4)|skin(1)	56						c.(382-384)tCc>tTc		integrin, alpha M (complement component 3 receptor 3 subunit)							65	67	66					16																	31277424		1995	4165	6160	SO:0001583	missense	3684				blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration	integrin complex	glycoprotein binding|receptor activity	g.chr16:31277424C>T	J03925	CCDS45470.1, CCDS54004.1	16p11.2	2010-03-23	2006-02-10			ENSG00000169896		"CD molecules", "Complement system", "Integrins"	6149	protein-coding gene	gene with protein product		120980	"integrin, alpha M (complement component receptor 3, alpha; also known as CD11b (p170), macrophage antigen alpha polypeptide)"	CR3A, CD11B			Standard	NM_001145808		Approved	MAC-1, CD11b	uc002ebr.3	P11215		ENST00000287497.8:c.383C>T	16.37:g.31277424C>T	ENSP00000287497:p.Ser128Phe					ITGAM_ENST00000287497.8_Missense_Mutation_p.S128F	p.S128F	NM_000632.3|NM_001145808.1	NP_000623.2|NP_001139280.1	P11215	ITAM_HUMAN			5	454	+			128					Q4VAK0|Q4VAK1|Q4VAK2	Missense_Mutation	SNP	ENST00000287497.8	37	c.383C>T	CCDS45470.1	.	.	.	.	.	.	.	.	.	.	C	13.36	2.213765	0.39102	.	.	ENSG00000169896	ENST00000544665;ENST00000287497	T;T	0.62232	0.04;0.04	5.33	5.33	0.75918	.	.	.	.	.	T	0.68439	0.3001	M	0.87269	2.87	0.09310	N	0.999998	B;B	0.31227	0.314;0.314	B;B	0.33196	0.159;0.159	T	0.66044	-0.6021	9	0.66056	D	0.02	.	11.7109	0.51625	0.1762:0.8238:0.0:0.0	.	128;128	Q4VAK1;P11215	.;ITAM_HUMAN	F	128	ENSP00000441691:S128F;ENSP00000287497:S128F	ENSP00000287497:S128F	S	+	2	0	ITGAM	31184925	0.841000	0.29509	0.620000	0.29132	0.675000	0.39556	4.271000	0.58902	2.506000	0.84524	0.644000	0.83932	TCC		0.612	ITGAM-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000432816.1	NM_000632		17	46	0	0	0	1	0	17	46					T	31277424	C	T	31277424	3	4	308	1	0	0	0	0	1	0	0	0	7887	855	30	3	401	3	ITGAM	16	31277424	Missense_Mutation	SNP	C	TCGA-KK-A59Z-01A-12D-A26M-08	2766248	31277424	59077329	45	15796											
CDH16	1014	broad.mit.edu	37	chr16	66946577	66946577	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggcacttaccaccctctgcGcctgccaggtccatggccag	6	7	11	17	1	1	0	0	0	1	0	2	0	2	0	6	3	3	1	6	3	1	1	rs145180383		TCGA-KK-A59Z-01A-12D-A26M-08	TCGA-KK-A59Z-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fb84b2b-2982-40fd-81c4-64892a963f04	5c810244-da67-425d-8315-da8c34d6a16f	g.chr16:66946577G>A	ENST00000299752.4	-	10	1465	c.1272C>T	c.(1270-1272)ggC>ggT	p.G424G	CDH16_ENST00000568632.1_Silent_p.G327G|CDH16_ENST00000565796.1_Silent_p.G424G|CDH16_ENST00000570262.1_Silent_p.G344G|CDH16_ENST00000394055.3_Silent_p.G424G	NM_001204744.1|NM_001204745.1|NM_004062.3	NP_001191673.1|NP_001191674.1|NP_004053.1	O75309	CAD16_HUMAN	cadherin 16, KSP-cadherin	424	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)	basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)			endometrium(1)|kidney(3)|large_intestine(10)|lung(15)|ovary(2)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0877)|Epithelial(162;0.203)		CACCCTCTGCGCCTGCCAGGT	0.637													G|||	1	0.000199681	0	0.0014	5008	,	,		17708	0		0	False		,,,				2504	0					ENST00000299752.4																			0				endometrium(1)|kidney(3)|large_intestine(10)|lung(15)|ovary(2)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						c.(1270-1272)ggC>ggT		cadherin 16, KSP-cadherin		G	,,,	1,4399	2.1+/-5.4	0,1,2199	55	52	53		1272,1272,981,1272	2.6	1	16	dbSNP_134	53	3,8597	3.0+/-9.4	0,3,4297	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	CDH16	NM_001204744.1,NM_001204745.1,NM_001204746.1,NM_004062.3	,,,	0,4,6496	AA,AG,GG		0.0349,0.0227,0.0308	,,,	424/808,424/791,327/733,424/830	66946577	4,12996	2200	4300	6500	SO:0001819	synonymous_variant	1014				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr16:66946577G>A	AF016272	CCDS10823.1, CCDS56002.1, CCDS58471.1, CCDS58472.1	16q22.1	2010-01-26			ENSG00000166589	ENSG00000166589		"Cadherins / Major cadherins"	1755	protein-coding gene	gene with protein product		603118				9721215, 7615566	Standard	NM_004062		Approved		uc002eql.3	O75309	OTTHUMG00000137518	ENST00000299752.4:c.1272C>T	16.37:g.66946577G>A						CDH16_ENST00000568632.1_Silent_p.G327G|CDH16_ENST00000570262.1_Silent_p.G344G|CDH16_ENST00000565796.1_Silent_p.G424G|CDH16_ENST00000394055.3_Silent_p.G424G	p.G424G	NM_001204744.1|NM_001204745.1|NM_004062.3	NP_001191673.1|NP_001191674.1|NP_004053.1	O75309	CAD16_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0877)|Epithelial(162;0.203)	10	1465	-		Ovarian(137;0.0563)	424			Cadherin 4.		B4DPA8|H3BPD3|Q6UW93	Silent	SNP	ENST00000299752.4	37	c.1272C>T	CCDS10823.1																																																																																				0.637	CDH16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268839.2	NM_004062		14	29	0	0	0	1	0	14	29					A	66946577	G	A	66946577	2	1	308	1	0	0	0	0	0	0	0	1	3101	1074	38	1		1	CDH16	16	66946577	Silent	SNP	G	TCGA-KK-A59Z-01A-12D-A26M-08	35669153	66946577	23408176	46	15797											
SLC7A5	8140	broad.mit.edu	37	chr16	87872329	87872329	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgtgctcacctggaggatGtgaacagggacccattgacg	9	8	14	10	1	1	2	1	2	0	0	1	5	1	5	2	3	2	2	2	3	1	1			TCGA-KK-A59Z-01A-12D-A26M-08	TCGA-KK-A59Z-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fb84b2b-2982-40fd-81c4-64892a963f04	5c810244-da67-425d-8315-da8c34d6a16f	g.chr16:87872329G>A	ENST00000261622.4	-	6	1099	c.1034C>T	c.(1033-1035)aCa>aTa	p.T345I	SLC7A5_ENST00000565644.1_Missense_Mutation_p.T79I|RP4-536B24.2_ENST00000563687.1_RNA	NM_003486.5	NP_003477.4	Q01650	LAT1_HUMAN	solute carrier family 7 (amino acid transporter light chain, L system), member 5	345					amino acid transport (GO:0006865)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|leukocyte migration (GO:0050900)|nervous system development (GO:0007399)|neutral amino acid transport (GO:0015804)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	amino acid transmembrane transporter activity (GO:0015171)|L-amino acid transmembrane transporter activity (GO:0015179)|neutral amino acid transmembrane transporter activity (GO:0015175)|peptide antigen binding (GO:0042605)			endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	10				BRCA - Breast invasive adenocarcinoma(80;0.049)	Dextrothyroxine(DB00509)|L-DOPA(DB01235)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Melphalan(DB01042)	CCTGGAGGATGTGAACAGGGA	0.587																																						ENST00000261622.4																			0				endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	10						c.(1033-1035)aCa>aTa		solute carrier family 7 (amino acid transporter light chain, L system), member 5							157	131	140					16																	87872329		2198	4300	6498	SO:0001583	missense	8140				blood coagulation|cell differentiation|cellular amino acid metabolic process|ion transport|leukocyte migration|nervous system development	apical plasma membrane|cytosol|integral to membrane	neutral amino acid transmembrane transporter activity|peptide antigen binding	g.chr16:87872329G>A	AF077866	CCDS10964.1	16q24.3	2013-05-22	2011-07-12		ENSG00000103257	ENSG00000103257		"CD molecules", "Solute carriers"	11063	protein-coding gene	gene with protein product		600182				9751058, 7829099	Standard	XM_006721286		Approved	LAT1, E16, D16S469E, MPE16, CD98	uc002fkm.3	Q01650	OTTHUMG00000137658	ENST00000261622.4:c.1034C>T	16.37:g.87872329G>A	ENSP00000261622:p.Thr345Ile					SLC7A5_ENST00000565644.1_Missense_Mutation_p.T79I	p.T345I	NM_003486.5	NP_003477.4	Q01650	LAT1_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.049)	6	1099	-			345					Q8IV97|Q9UBN8|Q9UP15|Q9UQC0	Missense_Mutation	SNP	ENST00000261622.4	37	c.1034C>T	CCDS10964.1	.	.	.	.	.	.	.	.	.	.	G	19.60	3.857987	0.71834	.	.	ENSG00000103257	ENST00000261622	D	0.89681	-2.55	4.49	4.49	0.54785	Amino acid permease domain (1);	0.000000	0.85682	D	0.000000	D	0.96150	0.8745	H	0.95574	3.69	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.97598	1.0121	10	0.87932	D	0	.	16.5311	0.84359	0.0:0.0:1.0:0.0	.	345	Q01650	LAT1_HUMAN	I	345	ENSP00000261622:T345I	ENSP00000261622:T345I	T	-	2	0	SLC7A5	86429830	1.000000	0.71417	0.991000	0.47740	0.486000	0.33341	9.362000	0.97126	2.215000	0.71742	0.462000	0.41574	ACA		0.587	SLC7A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269110.2	NM_003486		19	64	0	0	0	1	0	19	64					A	87872329	G	A	87872329	3	1	308	1	0	0	0	0	1	0	0	0	14700	1377	48	3	509	3	SLC7A5	16	87872329	Missense_Mutation	SNP	G	TCGA-KK-A59Z-01A-12D-A26M-08	20925752	87872329	2482424	47	15798											
SMTNL2	342527	broad.mit.edu	37	chr17	4496308	4496308	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcctgtgagcctctccttgcGgctgccccaccagccagtca	5	9	9	18	1	2	1	1	1	1	0	4	1	3	1	7	1	4	1	7	1	0	1	rs556796500		TCGA-KK-A59Z-01A-12D-A26M-08	TCGA-KK-A59Z-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fb84b2b-2982-40fd-81c4-64892a963f04	5c810244-da67-425d-8315-da8c34d6a16f	g.chr17:4496308G>A	ENST00000389313.4	+	3	639	c.572G>A	c.(571-573)cGg>cAg	p.R191Q	SMTNL2_ENST00000338859.4_Missense_Mutation_p.R47Q	NM_001114974.1	NP_001108446.1	Q2TAL5	SMTL2_HUMAN	smoothelin-like 2	191										breast(1)|endometrium(9)|kidney(1)|lung(1)|skin(1)	13				READ - Rectum adenocarcinoma(115;0.0325)		CTCTCCTTGCGGCTGCCCCAC	0.622													G|||	1	0.000199681	0	0	5008	,	,		15671	0.001		0	False		,,,				2504	0					ENST00000389313.4																			0				breast(1)|endometrium(9)|kidney(1)|lung(1)|skin(1)	13						c.(571-573)cGg>cAg		smoothelin-like 2							59	60	59					17																	4496308		2203	4300	6503	SO:0001583	missense	342527							g.chr17:4496308G>A	AK124452	CCDS11048.1, CCDS45583.1	17p13.2	2006-04-26			ENSG00000188176	ENSG00000188176			24764	protein-coding gene	gene with protein product							Standard	NM_001114974		Approved	FLJ42461	uc002fyf.1	Q2TAL5	OTTHUMG00000132938	ENST00000389313.4:c.572G>A	17.37:g.4496308G>A	ENSP00000373964:p.Arg191Gln					SMTNL2_ENST00000338859.4_Missense_Mutation_p.R47Q	p.R191Q	NM_001114974.1	NP_001108446.1	Q2TAL5	SMTL2_HUMAN		READ - Rectum adenocarcinoma(115;0.0325)	3	639	+			191					Q6ZVK6	Missense_Mutation	SNP	ENST00000389313.4	37	c.572G>A	CCDS45583.1	.	.	.	.	.	.	.	.	.	.	G	12.83	2.056013	0.36277	.	.	ENSG00000188176	ENST00000338859;ENST00000389313	T;T	0.81330	-1.46;-1.48	5.36	-0.161	0.13371	.	.	.	.	.	T	0.69842	0.3156	L	0.42245	1.32	0.24831	N	0.992525	B	0.13594	0.008	B	0.06405	0.002	T	0.53599	-0.8416	9	0.23891	T	0.37	-14.6887	8.85	0.35194	0.4124:0.0:0.5876:0.0	.	191	Q2TAL5	SMTL2_HUMAN	Q	47;191	ENSP00000345143:R47Q;ENSP00000373964:R191Q	ENSP00000345143:R47Q	R	+	2	0	SMTNL2	4443057	1.000000	0.71417	0.997000	0.53966	0.789000	0.44602	0.591000	0.23969	0.088000	0.17205	-0.143000	0.13931	CGG		0.622	SMTNL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439129.1	NM_198501		14	43	0	0	0	1	0	14	43					A	4496308	G	A	4496308	3	1	308	1	0	0	0	0	1	0	0	0	14816	1116	39	2	582	2	SMTNL2	17	4496308	Missense_Mutation	SNP	G	TCGA-KK-A59Z-01A-12D-A26M-08		4496308	76698902	48	15799											
KRT16	3868	broad.mit.edu	37	chr17	39767667	39767667	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgcatctccaggtcagtcCtggccagggtcagctcatcc	6	10	10	15	0	5	0	3	0	2	0	8	0	7	0	4	3	2	2	4	3	0	0			TCGA-KK-A59Z-01A-12D-A26M-08	TCGA-KK-A59Z-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fb84b2b-2982-40fd-81c4-64892a963f04	5c810244-da67-425d-8315-da8c34d6a16f	g.chr17:39767667C>G	ENST00000301653.4	-	3	765	c.701G>C	c.(700-702)aGg>aCg	p.R234T		NM_005557.3	NP_005548.2	P08779	K1C16_HUMAN	keratin 16	234	Coil 1B.|Rod.				aging (GO:0007568)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|epidermis development (GO:0008544)|hair cycle (GO:0042633)|intermediate filament cytoskeleton organization (GO:0045104)|negative regulation of cell migration (GO:0030336)	cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)			NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23		Breast(137;0.000307)				CAGGTCAGTCCTGGCCAGGGT	0.632																																						ENST00000301653.4																			0				NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						c.(700-702)aGg>aCg		keratin 16							74	72	73					17																	39767667		2203	4300	6503	SO:0001583	missense	3868				cell proliferation|epidermis development	intermediate filament	protein binding|structural constituent of cytoskeleton	g.chr17:39767667C>G	S79867	CCDS11401.1	17q21.2	2013-01-16	2008-08-01		ENSG00000186832	ENSG00000186832		"-", "Intermediate filaments type I, keratins (acidic)"	6423	protein-coding gene	gene with protein product	"focal non-epidermolytic palmoplantar keratoderma"	148067				2451124, 16831889	Standard	NM_005557		Approved	NEPPK	uc002hxg.4	P08779	OTTHUMG00000133495	ENST00000301653.4:c.701G>C	17.37:g.39767667C>G	ENSP00000301653:p.Arg234Thr						p.R234T	NM_005557.3	NP_005548.2	P08779	K1C16_HUMAN			3	765	-		Breast(137;0.000307)	234			Coil 1B.|Rod.		A8K488|P30654|Q16402|Q9UBG8	Missense_Mutation	SNP	ENST00000301653.4	37	c.701G>C	CCDS11401.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.019393	0.75275	.	.	ENSG00000186832	ENST00000301653	D	0.91577	-2.87	4.63	4.63	0.57726	Filament (1);	0.000000	0.56097	D	0.000036	D	0.95004	0.8383	M	0.84326	2.69	0.44282	D	0.997147	D	0.57257	0.979	D	0.72625	0.978	D	0.95067	0.8201	10	0.62326	D	0.03	.	13.4925	0.61405	0.0:0.9218:0.0:0.0782	.	234	P08779	K1C16_HUMAN	T	234	ENSP00000301653:R234T	ENSP00000301653:R234T	R	-	2	0	KRT16	37021193	0.934000	0.31675	0.933000	0.37362	0.964000	0.63967	2.043000	0.41231	2.556000	0.86216	0.561000	0.74099	AGG		0.632	KRT16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257408.1	NM_005557		44	68	0	0	0	1	0	44	68					G	39767667	C	G	39767667	3	3	308	1	0	0	0	0	1	0	0	0	8453	681	24	5	744	5	KRT16	17	39767667	Missense_Mutation	SNP	C	TCGA-KK-A59Z-01A-12D-A26M-08	35271359	39767667	41427543	49	15800											
SPOP	8405	broad.mit.edu	37	chr17	47696425	47696425	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctacggatgaatttcttgAatccccagtctttgccttgc	7	15	7	12	1	3	2	0	2	3	0	4	3	4	3	3	1	3	0	3	1	3	5			TCGA-KK-A59Z-01A-12D-A26M-08	TCGA-KK-A59Z-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fb84b2b-2982-40fd-81c4-64892a963f04	5c810244-da67-425d-8315-da8c34d6a16f	g.chr17:47696425A>C	ENST00000393328.2	-	6	763	c.398T>G	c.(397-399)tTc>tGc	p.F133C	SPOP_ENST00000347630.2_Missense_Mutation_p.F133C|SPOP_ENST00000503676.1_Missense_Mutation_p.F133C|SPOP_ENST00000393331.3_Missense_Mutation_p.F133C|SPOP_ENST00000513080.1_5'Flank|SPOP_ENST00000504102.1_Missense_Mutation_p.F133C	NM_003563.3	NP_003554.1	O43791	SPOP_HUMAN	speckle-type POZ protein	133	Important for binding substrate proteins.|MATH. {ECO:0000255|PROSITE- ProRule:PRU00129}.|Required for nuclear localization.				glucose homeostasis (GO:0042593)|positive regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902237)|positive regulation of type B pancreatic cell apoptotic process (GO:2000676)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	Cul3-RING ubiquitin ligase complex (GO:0031463)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	ubiquitin protein ligase binding (GO:0031625)	p.F133C(3)|p.F133S(2)		endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						GAATTTCTTGAATCCCCAGTC	0.448										Prostate(2;0.17)																												ENST00000393331.3																			5	Substitution - Missense(5)	p.F133C(3)|p.F133S(2)	prostate(5)	endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						c.(397-399)tTc>tGc		speckle-type POZ protein							119	120	120					17																	47696425		2203	4300	6503	SO:0001583	missense	8405				mRNA processing	nucleus	protein binding	g.chr17:47696425A>C	AJ000644	CCDS11551.1	17q21.33	2013-01-09			ENSG00000121067	ENSG00000121067		"BTB/POZ domain containing"	11254	protein-coding gene	gene with protein product		602650				9414087	Standard	NM_001007227		Approved	TEF2, BTBD32	uc002ipg.3	O43791	OTTHUMG00000161496	ENST00000393328.2:c.398T>G	17.37:g.47696425A>C	ENSP00000377001:p.Phe133Cys	Prostate(2;0.17)				SPOP_ENST00000347630.2_Missense_Mutation_p.F133C|SPOP_ENST00000503676.1_Missense_Mutation_p.F133C|SPOP_ENST00000393328.2_Missense_Mutation_p.F133C|SPOP_ENST00000504102.1_Missense_Mutation_p.F133C	p.F133C	NM_001007226.1|NM_001007227.1	NP_001007227.1|NP_001007228.1	O43791	SPOP_HUMAN			7	868	-			133			MATH.|Required for nuclear localization.		B2R6S3|D3DTW7|Q53HJ1	Missense_Mutation	SNP	ENST00000393328.2	37	c.398T>G	CCDS11551.1	.	.	.	.	.	.	.	.	.	.	A	20.8	4.055575	0.75960	.	.	ENSG00000121067	ENST00000393328;ENST00000393331;ENST00000347630;ENST00000504102;ENST00000503536;ENST00000503676;ENST00000513872;ENST00000509079;ENST00000505581;ENST00000507970;ENST00000514121	T;T;T;T;T;T;T;T;T	0.46063	0.88;0.88;0.88;0.88;0.88;0.88;0.88;0.88;0.88	5.41	5.41	0.78517	TRAF-type (1);TRAF-like (1);MATH (3);	0.000000	0.85682	D	0.000000	T	0.64789	0.2630	M	0.76328	2.33	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.67321	-0.5700	10	0.54805	T	0.06	-9.6576	15.258	0.73599	1.0:0.0:0.0:0.0	.	133	O43791	SPOP_HUMAN	C	133;133;133;133;17;133;86;133;133;133;133	ENSP00000377001:F133C;ENSP00000377004:F133C;ENSP00000240327:F133C;ENSP00000425905:F133C;ENSP00000420908:F133C;ENSP00000426986:F133C;ENSP00000420960:F133C;ENSP00000426262:F133C;ENSP00000424119:F133C	ENSP00000240327:F133C	F	-	2	0	SPOP	45051424	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.131000	0.94446	2.261000	0.74972	0.460000	0.39030	TTC		0.448	SPOP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365154.2	NM_003563		48	84	0	0	0	1	0	48	84					C	47696425	A	C	47696425	3	2	308	1	0	0	0	0	1	0	0	0	15083	246	9	5	750	5	SPOP	17	47696425	Missense_Mutation	SNP	A	TCGA-KK-A59Z-01A-12D-A26M-08	7928758	47696425	33498785	50	15801											
SMARCD2	6603	broad.mit.edu	37	chr17	61914805	61914805	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agcaggatgctcttacccccGgcgctgggcaggcatgggag	7	6	16	12	2	1	0	0	0	1	0	1	2	1	2	2	5	3	5	2	5	1	1			TCGA-KK-A59Z-01A-12D-A26M-08	TCGA-KK-A59Z-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fb84b2b-2982-40fd-81c4-64892a963f04	5c810244-da67-425d-8315-da8c34d6a16f	g.chr17:61914805G>A	ENST00000448276.2	-	2	662	c.397C>T	c.(397-399)Cgg>Tgg	p.R133W	SMARCD2_ENST00000225742.9_Missense_Mutation_p.R58W|RN7SL805P_ENST00000581353.1_RNA|SMARCD2_ENST00000323347.10_Missense_Mutation_p.R85W	NM_001098426.1	NP_001091896.1	Q92925	SMRD2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 2	133					ATP-dependent chromatin remodeling (GO:0043044)|chromatin remodeling (GO:0006338)|nucleosome disassembly (GO:0006337)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)	transcription coactivator activity (GO:0003713)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(1)	8						TCTTACCCCCGGCGCTGGGCA	0.582																																						ENST00000448276.2																			0				central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(1)	8						c.(397-399)Cgg>Tgg		SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 2							52	57	55					17																	61914805		1944	4158	6102	SO:0001583	missense	6603				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	SWI/SNF complex	protein binding|transcription coactivator activity	g.chr17:61914805G>A	U66618	CCDS45756.1	17q23.3	2014-07-16			ENSG00000108604	ENSG00000108604			11107	protein-coding gene	gene with protein product	"mammalian chromatin remodeling complex BRG1-associated factor 60B", "Swp73-like protein", "chromatin remodeling complex BAF60B subunit", "SWI/SNF complex 60 kDa subunit B"	601736				8804307, 9693044	Standard	NM_001098426		Approved	BAF60B, Rsc6p, CRACD2, PRO2451	uc010deb.1	Q92925	OTTHUMG00000179045	ENST00000448276.2:c.397C>T	17.37:g.61914805G>A	ENSP00000392617:p.Arg133Trp					SMARCD2_ENST00000225742.9_Missense_Mutation_p.R58W|SMARCD2_ENST00000323347.10_Missense_Mutation_p.R85W	p.R133W	NM_001098426.1	NP_001091896.1	Q92925	SMRD2_HUMAN			2	662	-			133					A5PLL5|A6NNQ7|B4DV56|B4E1R6|Q7L2I6|Q9UHZ1	Missense_Mutation	SNP	ENST00000448276.2	37	c.397C>T	CCDS45756.1	.	.	.	.	.	.	.	.	.	.	.	14.29	2.489983	0.44249	.	.	ENSG00000108604	ENST00000448276;ENST00000225742;ENST00000450364;ENST00000323347	T;T;T	0.58652	0.74;0.32;0.76	5.27	5.27	0.74061	.	0.168147	0.49916	D	0.000140	T	0.66127	0.2758	L	0.57536	1.79	0.58432	D	0.999999	D;D;D	0.71674	0.998;0.995;0.998	P;P;P	0.57468	0.649;0.723;0.821	T	0.68599	-0.5366	10	0.87932	D	0	.	11.3171	0.49399	0.0:0.0:0.8187:0.1813	.	85;96;133	Q92925-3;B9EGA3;Q92925	.;.;SMRD2_HUMAN	W	133;75;96;85	ENSP00000392617:R133W;ENSP00000225742:R75W;ENSP00000318451:R85W	ENSP00000225742:R75W	R	-	1	2	SMARCD2	59268537	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	3.121000	0.50438	2.749000	0.94314	0.491000	0.48974	CGG		0.582	SMARCD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444544.1	NM_001098426		57	67	0	0	0	1	0	57	67					A	61914805	G	A	61914805	3	1	308	1	0	0	0	0	1	0	0	0	14778	1115	39	2	1246	2	SMARCD2	17	61914805	Missense_Mutation	SNP	G	TCGA-KK-A59Z-01A-12D-A26M-08	14218380	61914805	19280405	51	15802											
KIF19	124602	broad.mit.edu	37	chr17	72340364	72340364	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccccacctgtcccgtcagatCtacaatgagatgatccggga	10	8	9	14	2	2	3	1	2	1	2	4	5	4	4	5	1	1	0	5	1	2	1			TCGA-KK-A59Z-01A-12D-A26M-08	TCGA-KK-A59Z-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fb84b2b-2982-40fd-81c4-64892a963f04	5c810244-da67-425d-8315-da8c34d6a16f	g.chr17:72340364C>A	ENST00000389916.4	+	6	597	c.459C>A	c.(457-459)atC>atA	p.I153I		NM_153209.3	NP_694941.2	Q2TAC6	KIF19_HUMAN	kinesin family member 19	153	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|axonemal microtubule depolymerization (GO:0060404)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|plus-end specific microtubule depolymerization (GO:0070462)	cilium (GO:0005929)|cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|plus-end-directed microtubule motor activity (GO:0008574)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	41						CCCGTCAGATCTACAATGAGA	0.627																																						ENST00000389916.4																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	41						c.(457-459)atC>atA		kinesin family member 19							44	44	44					17																	72340364		2203	4300	6503	SO:0001819	synonymous_variant	124602				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr17:72340364C>A	AK094619	CCDS32718.2	17q25	2007-02-13			ENSG00000196169	ENSG00000196169		"Kinesins"	26735	protein-coding gene	gene with protein product						11416179	Standard	NM_153209		Approved	FLJ37300, KIF19A	uc031rei.1	Q2TAC6	OTTHUMG00000150694	ENST00000389916.4:c.459C>A	17.37:g.72340364C>A							p.I153I	NM_153209.3	NP_694941.2	Q2TAC6	KIF19_HUMAN			6	597	+			153			Kinesin-motor.		A6NLG2|B7ZKR1|Q52M87|Q8N1X8|Q8TAB6	Silent	SNP	ENST00000389916.4	37	c.459C>A	CCDS32718.2																																																																																				0.627	KIF19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319644.2	NM_153209		32	39	1	0	1.36161e-19	1	1.58855e-19	32	39					A	72340364	C	A	72340364	2	1	308	1	0	0	0	0	0	0	0	1	8282	903	32	5		5	KIF19	17	72340364	Silent	SNP	C	TCGA-KK-A59Z-01A-12D-A26M-08	10425559	72340364	8854846	52	15803											
FDXR	2232	broad.mit.edu	37	chr17	72862613	72862613	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcagctccggcaccgtcacGtccctgcccacctccacgtt	5	7	8	21	5	1	0	1	0	0	0	4	0	4	0	6	1	2	4	6	1	0	1	rs7223627	byFrequency	TCGA-KK-A59Z-01A-12D-A26M-08	TCGA-KK-A59Z-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fb84b2b-2982-40fd-81c4-64892a963f04	5c810244-da67-425d-8315-da8c34d6a16f	g.chr17:72862613G>A	ENST00000293195.5	-	4	426	c.348C>T	c.(346-348)gaC>gaT	p.D116D	FDXR_ENST00000581969.1_5'UTR|FDXR_ENST00000442102.2_Silent_p.D159D|FDXR_ENST00000420580.2_Intron|FDXR_ENST00000455107.2_Silent_p.D72D|FDXR_ENST00000544854.1_Silent_p.D64D|FDXR_ENST00000413947.2_Silent_p.D147D|FDXR_ENST00000581530.1_Silent_p.D116D|FDXR_ENST00000583917.1_Silent_p.D117D|FDXR_ENST00000582944.1_Silent_p.D108D	NM_001258014.1|NM_004110.3|NM_024417.2	NP_001244943.1|NP_004101.2|NP_077728.2	P22570	ADRO_HUMAN	ferredoxin reductase	116					cholesterol metabolic process (GO:0008203)|generation of precursor metabolites and energy (GO:0006091)|NADPH oxidation (GO:0070995)|oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281)|steroid biosynthetic process (GO:0006694)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ferredoxin-NADP+ reductase activity (GO:0004324)|NADPH binding (GO:0070402)|NADPH-adrenodoxin reductase activity (GO:0015039)			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(9)|prostate(1)|skin(1)	16	all_lung(278;0.172)|Lung NSC(278;0.207)				Flavin adenine dinucleotide(DB03147)	GCACCGTCACGTCCCTGCCCA	0.662													G|||	11	0.00219649	0.0076	0.0014	5008	,	,		18164	0		0	False		,,,				2504	0					ENST00000455107.2																			0				central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(9)|prostate(1)|skin(1)	16						c.(214-216)gaC>gaT		ferredoxin reductase		G	,	31,4375	35.2+/-66.4	0,31,2172	39	33	35		348,348	-1.2	1	17	dbSNP_116	35	11,8589	7.1+/-27.0	0,11,4289	no	coding-synonymous,coding-synonymous	FDXR	NM_004110.3,NM_024417.2	,	0,42,6461	AA,AG,GG		0.1279,0.7036,0.3229	,	116/498,116/492	72862613	42,12964	2203	4300	6503	SO:0001819	synonymous_variant	2232				cholesterol metabolic process|electron transport chain|steroid biosynthetic process|transport	mitochondrial matrix	ferredoxin-NADP+ reductase activity|protein binding	g.chr17:72862613G>A	J03826	CCDS11707.1, CCDS58591.1, CCDS58592.1, CCDS58593.1, CCDS58594.1, CCDS58595.1, CCDS58596.1	17q25.1	2013-06-18			ENSG00000161513	ENSG00000161513	1.18.1.6		3642	protein-coding gene	gene with protein product	"adrenodoxin-NADP(+) reductase", "adrenodoxin reductase"	103270		ADXR		2969697	Standard	NM_001258014		Approved		uc010wrl.2	P22570	OTTHUMG00000179026	ENST00000293195.5:c.348C>T	17.37:g.72862613G>A						FDXR_ENST00000582944.1_Silent_p.D108D|FDXR_ENST00000581969.1_5'UTR|FDXR_ENST00000420580.2_Intron|FDXR_ENST00000413947.2_Silent_p.D147D|FDXR_ENST00000293195.5_Silent_p.D116D|FDXR_ENST00000583917.1_Silent_p.D117D|FDXR_ENST00000442102.2_Silent_p.D159D|FDXR_ENST00000544854.1_Silent_p.D64D|FDXR_ENST00000581530.1_Silent_p.D116D	p.D72D			P22570	ADRO_HUMAN			5	632	-	all_lung(278;0.172)|Lung NSC(278;0.207)		116					B4DDI7|B4DHX5|B4DQQ4|B4DX24|B7Z7G2|E7EQC1|Q13716|Q4PJI0|Q9BU12	Silent	SNP	ENST00000293195.5	37	c.216C>T	CCDS58593.1																																																																																				0.662	FDXR-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000444449.1	NM_004110		3	34	0	0	0	1	0	3	34					A	72862613	G	A	72862613	2	1	308	1	0	0	0	0	0	0	0	1	5807	1136	40	1		1	FDXR	17	72862613	Silent	SNP	G	TCGA-KK-A59Z-01A-12D-A26M-08	522249	72862613	8332597	53	15804											
TTC39C	125488	broad.mit.edu	37	chr18	21663037	21663037	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttttcaagggacggatacaaCgactagaggtactgtacctt	12	11	10	8	2	1	1	1	0	0	1	1	4	1	3	1	3	4	2	1	3	6	7			TCGA-KK-A59Z-01A-12D-A26M-08	TCGA-KK-A59Z-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fb84b2b-2982-40fd-81c4-64892a963f04	5c810244-da67-425d-8315-da8c34d6a16f	g.chr18:21663037C>T	ENST00000317571.3	+	6	1212	c.976C>T	c.(976-978)Cga>Tga	p.R326*	RP11-403A21.3_ENST00000578443.1_RNA|TTC39C_ENST00000304621.6_Nonsense_Mutation_p.R265*	NM_001135993.1	NP_001129465.1	Q8N584	TT39C_HUMAN	tetratricopeptide repeat domain 39C	326										breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(1)	19						ACGGATACAACGACTAGAGGT	0.393																																						ENST00000317571.3																			0				breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(1)	19						c.(976-978)Cga>Tga		tetratricopeptide repeat domain 39C							88	89	89					18																	21663037		2203	4300	6503	SO:0001587	stop_gained	125488						binding	g.chr18:21663037C>T	AK091080	CCDS32804.1, CCDS45839.1, CCDS58616.1	18q11.2	2014-02-07	2008-06-23	2008-06-23	ENSG00000168234	ENSG00000168234		"Tetratricopeptide (TTC) repeat domain containing"	26595	protein-coding gene	gene with protein product			"chromosome 18 open reading frame 17"	C18orf17		14702039	Standard	NM_153211		Approved	FLJ33761, HsT2697	uc002kuw.3	Q8N584	OTTHUMG00000179403	ENST00000317571.3:c.976C>T	18.37:g.21663037C>T	ENSP00000323645:p.Arg326*					RP11-403A21.3_ENST00000578443.1_RNA|TTC39C_ENST00000304621.6_Nonsense_Mutation_p.R265*	p.R326*	NM_001135993.1	NP_001129465.1	Q8N584	TT39C_HUMAN			6	1212	+			326					B7WP63|J3QRR1|Q0VAJ2|Q8N284	Nonsense_Mutation	SNP	ENST00000317571.3	37	c.976C>T	CCDS45839.1	.	.	.	.	.	.	.	.	.	.	C	39	7.633023	0.98403	.	.	ENSG00000168234	ENST00000304621;ENST00000317571	.	.	.	5.8	4.85	0.62838	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-10.4044	17.5815	0.87970	0.1319:0.8681:0.0:0.0	.	.	.	.	X	265;326	.	ENSP00000306598:R265X	R	+	1	2	TTC39C	19917035	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	2.828000	0.48120	2.737000	0.93849	0.557000	0.71058	CGA		0.393	TTC39C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446107.1	NM_153211		6	38	0	0	0	1	0	6	38					T	21663037	C	T	21663037	4	4	308	1	0	0	0	0	0	1	0	0	16706	528	19	1	998	1	TTC39C	18	21663037	Nonsense_Mutation	SNP	C	TCGA-KK-A59Z-01A-12D-A26M-08		21663037	56414211	54	15805											
KDSR	2531	broad.mit.edu	37	chr18	61030014	61030014	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgaacctagaagccttacctCatttcgtgcaaccagagtta	12	11	7	11	1	1	3	1	1	0	2	2	3	1	3	4	0	5	2	4	0	6	4			TCGA-KK-A59Z-01A-12D-A26M-08	TCGA-KK-A59Z-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fb84b2b-2982-40fd-81c4-64892a963f04	5c810244-da67-425d-8315-da8c34d6a16f	g.chr18:61030014C>T	ENST00000406396.3	-	2	587	c.196G>A	c.(196-198)Gag>Aag	p.E66K	KDSR_ENST00000326575.5_Missense_Mutation_p.E66K	NM_002035.2	NP_002026.1	Q06136	KDSR_HUMAN	3-ketodihydrosphingosine reductase	66					3-keto-sphinganine metabolic process (GO:0006666)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	3-dehydrosphinganine reductase activity (GO:0047560)			endometrium(2)|large_intestine(2)|lung(3)|skin(1)|stomach(1)	9						AGCCTTACCTCATTTCGTGCA	0.413																																						ENST00000406396.3																			0				endometrium(2)|large_intestine(2)|lung(3)|skin(1)|stomach(1)	9						c.(196-198)Gag>Aag		3-ketodihydrosphingosine reductase							99	92	94					18																	61030014		2203	4300	6503	SO:0001583	missense	2531				3-keto-sphinganine metabolic process	endoplasmic reticulum membrane|extracellular space|integral to membrane	3-dehydrosphinganine reductase activity|binding	g.chr18:61030014C>T		CCDS11982.1	18q21	2011-09-20	2008-02-20	2008-02-20	ENSG00000119537	ENSG00000119537	1.1.1.102	"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3"	4021	protein-coding gene	gene with protein product	"3-dehydrosphinganine reductase", "short chain dehydrogenase/reductase family 35C, member 1"	136440	"follicular lymphoma variant translocation 1"	FVT1		8417785, 15328338, 17420465, 19027726	Standard	NM_002035		Approved	DHSR, SDR35C1	uc010dpw.3	Q06136	OTTHUMG00000132792	ENST00000406396.3:c.196G>A	18.37:g.61030014C>T	ENSP00000385083:p.Glu66Lys					KDSR_ENST00000326575.5_Missense_Mutation_p.E66K	p.E66K	NM_002035.2	NP_002026.1	Q06136	KDSR_HUMAN			2	587	-			66					B2R5Y1|B4DMX0	Missense_Mutation	SNP	ENST00000406396.3	37	c.196G>A	CCDS11982.1	.	.	.	.	.	.	.	.	.	.	C	24.5	4.539948	0.85917	.	.	ENSG00000119537	ENST00000406396;ENST00000326575	D;D	0.87966	-2.32;-2.32	5.87	5.87	0.94306	NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.88764	0.6525	N	0.20574	0.59	0.80722	D	1	D;B	0.76494	0.999;0.167	D;B	0.81914	0.995;0.074	D	0.85116	0.0966	10	0.20046	T	0.44	.	20.5827	0.99408	0.0:1.0:0.0:0.0	.	66;66	B4DMX0;Q06136	.;KDSR_HUMAN	K	66	ENSP00000385083:E66K;ENSP00000312939:E66K	ENSP00000312939:E66K	E	-	1	0	KDSR	59180994	1.000000	0.71417	1.000000	0.80357	0.910000	0.53928	7.308000	0.78929	2.941000	0.99782	0.655000	0.94253	GAG		0.413	KDSR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256200.2			18	24	0	0	0	1	0	18	24					T	61030014	C	T	61030014	3	4	308	1	0	0	0	0	1	0	0	0	8140	835	29	3	838	3	KDSR	18	61030014	Missense_Mutation	SNP	C	TCGA-KK-A59Z-01A-12D-A26M-08	39366977	61030014	17047234	55	15806											
TYK2	7297	broad.mit.edu	37	chr19	10464234	10464234	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgctgggcgaagagcagcagCtgggccagcccgatgctgtg	7	6	17	11	2	0	1	0	0	0	1	0	3	0	1	2	2	6	5	2	2	1	0			TCGA-KK-A59Z-01A-12D-A26M-08	TCGA-KK-A59Z-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fb84b2b-2982-40fd-81c4-64892a963f04	5c810244-da67-425d-8315-da8c34d6a16f	g.chr19:10464234C>T	ENST00000525621.1	-	21	3478	c.2997G>A	c.(2995-2997)caG>caA	p.Q999Q	TYK2_ENST00000524462.1_Silent_p.Q814Q|TYK2_ENST00000529422.1_5'Flank|TYK2_ENST00000264818.6_Silent_p.Q999Q	NM_003331.4	NP_003322.3	P29597	TYK2_HUMAN	tyrosine kinase 2	999	Protein kinase 2. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cytokine-mediated signaling pathway (GO:0019221)|intracellular signal transduction (GO:0035556)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein phosphorylation (GO:0006468)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|growth hormone receptor binding (GO:0005131)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			breast(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(11)|kidney(6)|large_intestine(3)|lung(19)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64			OV - Ovarian serous cystadenocarcinoma(20;1.77e-09)|Epithelial(33;3.92e-06)|all cancers(31;8.95e-06)			AGAGCAGCAGCTGGGCCAGCC	0.677																																						ENST00000525621.1																			0				breast(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(11)|kidney(6)|large_intestine(3)|lung(19)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64						c.(2995-2997)caG>caA		tyrosine kinase 2							19	22	21					19																	10464234		2188	4287	6475	SO:0001819	synonymous_variant	7297				intracellular protein kinase cascade|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway	cytoskeleton|cytosol|membrane|nucleus	ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity	g.chr19:10464234C>T		CCDS12236.1	19p13.2	2014-09-17			ENSG00000105397	ENSG00000105397	2.7.10.1		12440	protein-coding gene	gene with protein product		176941				2156206	Standard	NM_003331		Approved	JTK1	uc002moc.4	P29597	OTTHUMG00000166373	ENST00000525621.1:c.2997G>A	19.37:g.10464234C>T						TYK2_ENST00000264818.6_Silent_p.Q999Q|TYK2_ENST00000524462.1_Silent_p.Q814Q	p.Q999Q	NM_003331.4	NP_003322.3	P29597	TYK2_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;1.77e-09)|Epithelial(33;3.92e-06)|all cancers(31;8.95e-06)		21	3478	-			999			Protein kinase 2.		Q6QB10|Q96CH0	Silent	SNP	ENST00000525621.1	37	c.2997G>A	CCDS12236.1																																																																																				0.677	TYK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389443.1			10	10	0	0	0	1	0	10	10					T	10464234	C	T	10464234	2	4	308	1	0	0	0	0	0	0	0	1	16807	796	28	3		3	TYK2	19	10464234	Silent	SNP	C	TCGA-KK-A59Z-01A-12D-A26M-08		10464234	48664749	56	15807											
CAPN12	147968	broad.mit.edu	37	chr19	39233710	39233710	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acgtctgtgcggctcatgtcTtcacagatgaacttcggctc	7	12	10	12	3	4	2	2	1	2	1	6	2	4	2	0	2	2	2	0	2	1	2			TCGA-KK-A59Z-01A-12D-A26M-08	TCGA-KK-A59Z-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fb84b2b-2982-40fd-81c4-64892a963f04	5c810244-da67-425d-8315-da8c34d6a16f	g.chr19:39233710T>A	ENST00000328867.4	-	2	578	c.270A>T	c.(268-270)gaA>gaT	p.E90D	CAPN12_ENST00000601953.1_Intron	NM_144691.3	NP_653292.2	Q6ZSI9	CAN12_HUMAN	calpain 12	90	Calpain catalytic. {ECO:0000255|PROSITE- ProRule:PRU00239}.				proteolysis (GO:0006508)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	20	all_cancers(60;2.87e-05)|Ovarian(47;0.0454)		Lung(45;0.00416)|LUSC - Lung squamous cell carcinoma(53;0.00741)			GGCTCATGTCTTCACAGATGA	0.572																																						ENST00000328867.4																			0				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	20						c.(268-270)gaA>gaT		calpain 12							88	76	80					19																	39233710		2203	4300	6503	SO:0001583	missense	147968				proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity	g.chr19:39233710T>A	BC014027	CCDS12519.1	19q13.2	2014-08-12			ENSG00000182472	ENSG00000182472		"EF-hand domain containing"	13249	protein-coding gene	gene with protein product		608839					Standard	NM_144691		Approved		uc002ojd.1	Q6ZSI9	OTTHUMG00000182525	ENST00000328867.4:c.270A>T	19.37:g.39233710T>A	ENSP00000331636:p.Glu90Asp					CAPN12_ENST00000601953.1_Intron	p.E90D	NM_144691.3	NP_653292.2	Q6ZSI9	CAN12_HUMAN	Lung(45;0.00416)|LUSC - Lung squamous cell carcinoma(53;0.00741)		2	578	-	all_cancers(60;2.87e-05)|Ovarian(47;0.0454)		90			Calpain catalytic.			Missense_Mutation	SNP	ENST00000328867.4	37	c.270A>T	CCDS12519.1	.	.	.	.	.	.	.	.	.	.	t	4.929	0.172693	0.09391	.	.	ENSG00000182472	ENST00000328867	T	0.14516	2.5	4.97	-1.82	0.07857	Peptidase C2, calpain, catalytic domain (3);	0.123876	0.53938	D	0.000055	T	0.12987	0.0315	N	0.17674	0.51	0.30488	N	0.77166	D	0.64830	0.994	P	0.62298	0.9	T	0.21552	-1.0242	10	0.16420	T	0.52	.	7.7432	0.28853	0.135:0.6369:0.0:0.2281	.	90	Q6ZSI9	CAN12_HUMAN	D	90	ENSP00000331636:E90D	ENSP00000331636:E90D	E	-	3	2	CAPN12	43925550	0.082000	0.21442	0.996000	0.52242	0.471000	0.32888	-0.979000	0.03774	-0.249000	0.09569	-0.473000	0.04963	GAA		0.572	CAPN12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462151.1			9	68	0	0	0	1	0	9	68					A	39233710	T	A	39233710	3	1	308	1	0	0	0	0	1	0	0	0	2625	1606	56	5	1969	5	CAPN12	19	39233710	Missense_Mutation	SNP	T	TCGA-KK-A59Z-01A-12D-A26M-08	28769476	39233710	19895273	57	15808											
FCGBP	8857	broad.mit.edu	37	chr19	40421659	40421659	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaggtcgggcaagcagggccGcagagctcatagcggctgtt	8	6	17	10	3	1	1	1	0	0	1	2	2	1	1	1	4	3	6	1	4	2	2	rs183023275		TCGA-KK-A59Z-01A-12D-A26M-08	TCGA-KK-A59Z-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fb84b2b-2982-40fd-81c4-64892a963f04	5c810244-da67-425d-8315-da8c34d6a16f	g.chr19:40421659G>A	ENST00000221347.6	-	5	2269	c.2262C>T	c.(2260-2262)tgC>tgT	p.C754C		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	754	Cys-rich.|TIL 1.					extracellular vesicular exosome (GO:0070062)				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			AAGCAGGGCCGCAGAGCTCAT	0.716													G|||	1	0.000199681	0	0	5008	,	,		14166	0		0	False		,,,				2504	0.001					ENST00000221347.6																			0				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165						c.(2260-2262)tgC>tgT		Fc fragment of IgG binding protein							4	5	5					19																	40421659		1956	3853	5809	SO:0001819	synonymous_variant	8857					extracellular region	protein binding	g.chr19:40421659G>A	D84239		19q13.2	2013-09-20			ENSG00000090920	ENSG00000275395			13572	protein-coding gene	gene with protein product	"IgG Fc binding protein", "Human Fc gamma BP"					9182547	Standard	NM_003890		Approved	FC(GAMMA)BP	uc002omp.4	Q9Y6R7	OTTHUMG00000182580	ENST00000221347.6:c.2262C>T	19.37:g.40421659G>A							p.C754C	NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)		5	2269	-	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		754			Cys-rich.|TIL 1.		O95784	Silent	SNP	ENST00000221347.6	37	c.2262C>T	CCDS12546.1																																																																																				0.716	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462507.1	NM_003890		4	8	0	0	0	1	0	4	8					A	40421659	G	A	40421659	2	1	308	1	0	0	0	0	0	0	0	1	5778	1079	38	1		1	FCGBP	19	40421659	Silent	SNP	G	TCGA-KK-A59Z-01A-12D-A26M-08	1187949	40421659	18707324	58	15809											
DACT3	147906	broad.mit.edu	37	chr19	47151969	47151969	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gaaggcaggcgattctccctCgctggcgctcgattcgctct	5	10	12	14	5	2	0	0	0	2	0	6	3	2	0	1	3	0	4	1	3	1	2			TCGA-KK-A59Z-01A-12D-A26M-08	TCGA-KK-A59Z-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fb84b2b-2982-40fd-81c4-64892a963f04	5c810244-da67-425d-8315-da8c34d6a16f	g.chr19:47151969C>T	ENST00000391916.2	-	4	1733	c.1660G>A	c.(1660-1662)Gag>Aag	p.E554K	DACT3_ENST00000300875.4_Missense_Mutation_p.E329K	NM_145056.2	NP_659493.2	Q96B18	DACT3_HUMAN	dishevelled-binding antagonist of beta-catenin 3	554					negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catenin import into nucleus (GO:0035414)|negative regulation of cell growth (GO:0030308)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of Wnt signaling pathway (GO:0030178)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)	delta-catenin binding (GO:0070097)|protein kinase A binding (GO:0051018)|protein kinase C binding (GO:0005080)			lung(1)	1		Ovarian(192;0.0798)|all_neural(266;0.107)		OV - Ovarian serous cystadenocarcinoma(262;0.000173)|all cancers(93;0.000464)|Epithelial(262;0.02)|GBM - Glioblastoma multiforme(486;0.0325)		GATTCTCCCTCGCTGGCGCTC	0.746																																						ENST00000391916.2																			0				lung(1)	1						c.(1660-1662)Gag>Aag		dishevelled-binding antagonist of beta-catenin 3							13	18	16					19																	47151969		2184	4258	6442	SO:0001583	missense	147906							g.chr19:47151969C>T		CCDS12688.2, CCDS74402.1	19q13.32	2013-05-15	2013-05-15	2006-09-25	ENSG00000197380	ENSG00000197380			30745	protein-coding gene	gene with protein product		611112	"arginine rich region 1", "dapper, antagonist of beta-catenin, homolog 3 (Xenopus laevis)"	RRR1		16881060	Standard	NM_145056		Approved	MGC15476, DAPPER3	uc010ekq.3	Q96B18	OTTHUMG00000153070	ENST00000391916.2:c.1660G>A	19.37:g.47151969C>T	ENSP00000375783:p.Glu554Lys					DACT3_ENST00000300875.4_Missense_Mutation_p.E329K	p.E554K	NM_145056.2	NP_659493.2	Q96B18	DACT3_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000173)|all cancers(93;0.000464)|Epithelial(262;0.02)|GBM - Glioblastoma multiforme(486;0.0325)	4	1733	-		Ovarian(192;0.0798)|all_neural(266;0.107)	554						Missense_Mutation	SNP	ENST00000391916.2	37	c.1660G>A	CCDS12688.2	.	.	.	.	.	.	.	.	.	.	C	18.38	3.610660	0.66558	.	.	ENSG00000197380	ENST00000391916;ENST00000300875	T;T	0.53857	0.6;0.6	2.99	2.99	0.34606	.	0.181220	0.18159	U	0.149836	T	0.60996	0.2312	L	0.59436	1.845	0.80722	D	1	D	0.76494	0.999	P	0.56612	0.802	T	0.65957	-0.6042	10	0.87932	D	0	-12.6237	11.7444	0.51811	0.0:1.0:0.0:0.0	.	554	Q96B18	DACT3_HUMAN	K	554;329	ENSP00000375783:E554K;ENSP00000300875:E329K	ENSP00000300875:E329K	E	-	1	0	DACT3	51843809	1.000000	0.71417	1.000000	0.80357	0.278000	0.26855	6.654000	0.74387	1.646000	0.50622	0.289000	0.19496	GAG		0.746	DACT3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000334090.1	NM_145056		5	31	0	0	0	1	0	5	31					T	47151969	C	T	47151969	3	4	308	1	0	0	0	0	1	0	0	0	4223	893	31	2	233	2	DACT3	19	47151969	Missense_Mutation	SNP	C	TCGA-KK-A59Z-01A-12D-A26M-08	6730310	47151969	11977014	59	15810											
ARFGEF2	10564	broad.mit.edu	37	chr20	47588909	47588909	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cattttagaaacatcaacaaGttcttttgagcacaggtgga	14	12	8	7	0	2	2	1	1	1	1	2	3	2	3	0	2	3	2	0	2	4	5			TCGA-KK-A59Z-01A-12D-A26M-08	TCGA-KK-A59Z-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fb84b2b-2982-40fd-81c4-64892a963f04	5c810244-da67-425d-8315-da8c34d6a16f	g.chr20:47588909G>T	ENST00000371917.4	+	11	1472	c.1472G>T	c.(1471-1473)aGt>aTt	p.S491I		NM_006420.2	NP_006411.2	Q9Y6D5	BIG2_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited)	491					endomembrane system organization (GO:0010256)|endosome organization (GO:0007032)|exocytosis (GO:0006887)|Golgi to plasma membrane transport (GO:0006893)|intracellular signal transduction (GO:0035556)|positive regulation of GTPase activity (GO:0043547)|positive regulation of tumor necrosis factor production (GO:0032760)|protein transport (GO:0015031)|receptor recycling (GO:0001881)|regulation of ARF protein signal transduction (GO:0032012)|vesicle-mediated transport (GO:0016192)	asymmetric synapse (GO:0032279)|axonemal microtubule (GO:0005879)|cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|Golgi membrane (GO:0000139)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|recycling endosome (GO:0055037)|symmetric synapse (GO:0032280)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|GABA receptor binding (GO:0050811)|guanyl-nucleotide exchange factor activity (GO:0005085)|protein kinase A regulatory subunit binding (GO:0034237)			breast(7)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	63			BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)			ACATCAACAAGTTCTTTTGAG	0.413																																					Esophageal Squamous(176;1738 1974 26285 33069 35354)	ENST00000371917.4																			0				breast(7)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	63						c.(1471-1473)aGt>aTt		ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited)							100	98	99					20																	47588909		2203	4300	6503	SO:0001583	missense	10564				exocytosis|intracellular signal transduction|regulation of ARF protein signal transduction	cytosol|Golgi membrane	ARF guanyl-nucleotide exchange factor activity	g.chr20:47588909G>T	AF084521	CCDS13411.1	20q13.13	2010-08-20			ENSG00000124198	ENSG00000124198		"A-kinase anchor proteins"	15853	protein-coding gene	gene with protein product	"Brefeldin A-inhibited guanine nucleotide-exchange protein 2"	605371				10212200	Standard	NM_006420		Approved	BIG2	uc002xtx.4	Q9Y6D5	OTTHUMG00000032687	ENST00000371917.4:c.1472G>T	20.37:g.47588909G>T	ENSP00000360985:p.Ser491Ile						p.S491I	NM_006420.2	NP_006411.2	Q9Y6D5	BIG2_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)		11	1472	+			491					Q5TFT9|Q9NTS1	Missense_Mutation	SNP	ENST00000371917.4	37	c.1472G>T	CCDS13411.1	.	.	.	.	.	.	.	.	.	.	G	32	5.116163	0.94339	.	.	ENSG00000124198	ENST00000538445;ENST00000371917	T	0.67865	-0.29	5.91	5.91	0.95273	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.86272	0.5893	M	0.90198	3.095	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.87929	0.2709	10	0.87932	D	0	.	20.2985	0.98592	0.0:0.0:1.0:0.0	.	491	Q9Y6D5	BIG2_HUMAN	I	491	ENSP00000360985:S491I	ENSP00000360985:S491I	S	+	2	0	ARFGEF2	47022316	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.476000	0.97823	2.793000	0.96121	0.655000	0.94253	AGT		0.413	ARFGEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079627.1	NM_006420		12	22	1	0	9.31168e-06	1	9.77726e-06	12	22					T	47588909	G	T	47588909	3	4	308	1	0	0	0	0	1	0	0	0	853	1029	36	5	1514	5	ARFGEF2	20	47588909	Missense_Mutation	SNP	G	TCGA-KK-A59Z-01A-12D-A26M-08		47588909	15436611	60	15811											
RTDR1	27156	broad.mit.edu	37	chr22	23401783	23401783	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ggccttgcggccctcgggggCctctgccagcatggtaaggg	4	7	17	13	2	1	0	0	0	1	0	2	0	1	0	4	6	3	2	4	6	1	2			TCGA-KK-A59Z-01A-12D-A26M-08	TCGA-KK-A59Z-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fb84b2b-2982-40fd-81c4-64892a963f04	5c810244-da67-425d-8315-da8c34d6a16f	g.chr22:23401783C>A	ENST00000216036.4	-	7	1100	c.904G>T	c.(904-906)Gcc>Tcc	p.A302S		NM_014433.2	NP_055248.1	Q9UHP6	RTDR1_HUMAN		302										breast(1)|endometrium(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	18	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)			READ - Rectum adenocarcinoma(21;0.175)		CCCTCGGGGGCCTCTGCCAGC	0.642																																						ENST00000216036.4																			0				breast(1)|endometrium(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	18						c.(904-906)Gcc>Tcc		rhabdoid tumor deletion region gene 1							79	80	80					22																	23401783		2203	4300	6503	SO:0001583	missense	27156						binding	g.chr22:23401783C>A																												ENST00000216036.4:c.904G>T	22.37:g.23401783C>A	ENSP00000216036:p.Ala302Ser						p.A302S	NM_014433.2	NP_055248.1	Q9UHP6	RTDR1_HUMAN		READ - Rectum adenocarcinoma(21;0.175)	7	1100	-	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)		302						Missense_Mutation	SNP	ENST00000216036.4	37	c.904G>T	CCDS13803.1	.	.	.	.	.	.	.	.	.	.	C	17.26	3.345288	0.61073	.	.	ENSG00000100218	ENST00000216036	T	0.47528	0.84	5.08	4.06	0.47325	Armadillo-like helical (1);Armadillo-type fold (1);	0.735360	0.13496	N	0.383623	T	0.46425	0.1392	L	0.49778	1.585	0.80722	D	1	D	0.54397	0.966	P	0.48738	0.588	T	0.21793	-1.0235	10	0.18276	T	0.48	-22.0375	9.7645	0.40552	0.0:0.9034:0.0:0.0966	.	302	Q9UHP6	RTDR1_HUMAN	S	302	ENSP00000216036:A302S	ENSP00000216036:A302S	A	-	1	0	RTDR1	21731783	1.000000	0.71417	0.985000	0.45067	0.218000	0.24690	1.394000	0.34509	1.286000	0.44565	0.561000	0.74099	GCC		0.642	RTDR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319049.1			32	136	1	0	7.11191e-15	1	8.07298e-15	32	136					A	23401783	C	A	23401783	3	1	308	1	0	0	0	0	1	0	0	0	13719	739	26	5	146	5	RTDR1	22	23401783	Missense_Mutation	SNP	C	TCGA-KK-A59Z-01A-12D-A26M-08		23401783	27902783	61	15812											
GGT5	2687	broad.mit.edu	37	chr22	24629908	24629908	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catgctctgagggttgacgaCgctggtgcagaccagagccg	8	7	15	11	3	1	4	0	2	1	2	1	5	1	4	2	2	3	4	2	2	0	1	rs200655605		TCGA-KK-A59Z-01A-12D-A26M-08	TCGA-KK-A59Z-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fb84b2b-2982-40fd-81c4-64892a963f04	5c810244-da67-425d-8315-da8c34d6a16f	g.chr22:24629908C>T	ENST00000327365.4	-	2	654	c.238G>A	c.(238-240)Gtc>Atc	p.V80I	GGT5_ENST00000398292.3_Missense_Mutation_p.V80I|GGT5_ENST00000263112.7_Missense_Mutation_p.V80I|GGT5_ENST00000418439.2_Intron	NM_001099781.1|NM_004121.2	NP_001093251.1|NP_004112.2	P36269	GGT5_HUMAN	gamma-glutamyltransferase 5	80					arachidonic acid metabolic process (GO:0019369)|cellular amino acid metabolic process (GO:0006520)|glutathione biosynthetic process (GO:0006750)|glutathione metabolic process (GO:0006749)|inflammatory response (GO:0006954)|leukotriene biosynthetic process (GO:0019370)|leukotriene metabolic process (GO:0006691)|small molecule metabolic process (GO:0044281)	anchored component of external side of plasma membrane (GO:0031362)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	gamma-glutamyltransferase activity (GO:0003840)|glutathione hydrolase activity (GO:0036374)			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(3)|skin(3)	28						GGGTTGACGACGCTGGTGCAG	0.622													C|||	1	0.000199681	8e-04	0	5008	,	,		19426	0		0	False		,,,				2504	0					ENST00000327365.4																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(3)|skin(3)	28						c.(238-240)Gtc>Atc		gamma-glutamyltransferase 5		C	ILE/VAL,ILE/VAL,ILE/VAL	1,4405	2.1+/-5.4	0,1,2202	102	84	90		238,238,238	4.9	0	22		90	0,8600		0,0,4300	no	missense,missense,missense	GGT5	NM_001099781.1,NM_001099782.1,NM_004121.2	29,29,29	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging,probably-damaging,probably-damaging	80/588,80/555,80/587	24629908	1,13005	2203	4300	6503	SO:0001583	missense	2687				glutathione biosynthetic process|hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process	integral to membrane|plasma membrane	acyltransferase activity|gamma-glutamyltransferase activity	g.chr22:24629908C>T	M64099	CCDS13825.1, CCDS42989.1, CCDS42990.1	22q11.23	2008-03-25	2008-03-10	2008-03-10	ENSG00000099998	ENSG00000099998		"Gamma-glutamyltransferases"	4260	protein-coding gene	gene with protein product		137168	"gamma-glutamyltransferase-like activity 1"	GGTLA1		1676842, 8095916, 18357469	Standard	NM_004121		Approved	GGT-REL	uc002zzp.4	P36269	OTTHUMG00000150796	ENST00000327365.4:c.238G>A	22.37:g.24629908C>T	ENSP00000330080:p.Val80Ile					GGT5_ENST00000418439.2_Intron|GGT5_ENST00000263112.7_Missense_Mutation_p.V80I|GGT5_ENST00000398292.3_Missense_Mutation_p.V80I	p.V80I	NM_001099781.1|NM_004121.2	NP_001093251.1|NP_004112.2	P36269	GGT5_HUMAN			2	654	-			80					Q53XM9|Q6GMP0|Q96FC1|Q9UFM5	Missense_Mutation	SNP	ENST00000327365.4	37	c.238G>A	CCDS13825.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	15.31	2.796734	0.50208	2.27E-4	0.0	ENSG00000099998	ENST00000327365;ENST00000263112;ENST00000398292	T;T;T	0.14640	2.49;2.49;2.49	4.87	4.87	0.63330	.	0.232398	0.35262	N	0.003340	T	0.33352	0.0860	M	0.64170	1.965	0.54753	D	0.999981	P;D;D;D	0.65815	0.888;0.991;0.995;0.991	B;P;D;P	0.64595	0.394;0.844;0.927;0.844	T	0.03139	-1.1068	10	0.66056	D	0.02	-36.316	15.9174	0.79531	0.0:1.0:0.0:0.0	.	80;80;80;80	P36269-2;Q53XM9;Q6GMP0;P36269	.;.;.;GGT5_HUMAN	I	80	ENSP00000330080:V80I;ENSP00000263112:V80I;ENSP00000381340:V80I	ENSP00000263112:V80I	V	-	1	0	GGT5	22959908	0.008000	0.16893	0.047000	0.18901	0.338000	0.28826	0.153000	0.16323	2.451000	0.82905	0.306000	0.20318	GTC		0.622	GGT5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000320119.1	NM_004121		39	30	0	0	0	1	0	39	30					T	24629908	C	T	24629908	3	4	308	1	0	0	0	0	1	0	0	0	6362	536	19	1	1569	1	GGT5	22	24629908	Missense_Mutation	SNP	C	TCGA-KK-A59Z-01A-12D-A26M-08	1228125	24629908	26674658	62	15813											
MAP7D2	256714	broad.mit.edu	37	chrX	20060693	20060693	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcttctcagaggggacccgaAgttcacaacaggaagagaag	14	6	12	9	1	3	2	2	0	2	2	4	6	3	4	1	3	1	1	1	3	4	2	rs140590662	byFrequency	TCGA-KK-A59Z-01A-12D-A26M-08	TCGA-KK-A59Z-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fb84b2b-2982-40fd-81c4-64892a963f04	5c810244-da67-425d-8315-da8c34d6a16f	g.chrX:20060693A>G	ENST00000379651.3	-	7	829	c.811T>C	c.(811-813)Ttc>Ctc	p.F271L	MAP7D2_ENST00000452324.3_Missense_Mutation_p.F219L|MAP7D2_ENST00000379643.5_Missense_Mutation_p.F312L|MAP7D2_ENST00000543767.1_Missense_Mutation_p.F156L|MAP7D2_ENST00000443379.3_Missense_Mutation_p.F226L	NM_152780.3	NP_689993.2	Q96T17	MA7D2_HUMAN	MAP7 domain containing 2	271					microtubule cytoskeleton organization (GO:0000226)	microtubule (GO:0005874)				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	37						GGGGACCCGAAGTTCACAACA	0.512													A|||	5	0.0013245	0.0038	0	3775	,	,		14959	0		0	False		,,,				2504	0					ENST00000379651.3																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	37						c.(811-813)Ttc>Ctc		MAP7 domain containing 2		A	LEU/PHE,LEU/PHE,LEU/PHE,LEU/PHE	16,3819		1,13,1,1618,570	186	162	170		811,655,676,934	1.6	0	X	dbSNP_134	170	2,6726		0,2,0,2426,1872	yes	missense,missense,missense,missense	MAP7D2	NM_152780.3,NM_001168467.1,NM_001168466.1,NM_001168465.1	22,22,22,22	1,15,1,4044,2442	GG,GA,G,AA,A		0.0297,0.4172,0.1704	benign,benign,benign,benign	271/733,219/681,226/688,312/774	20060693	18,10545	2203	4300	6503	SO:0001583	missense	256714							g.chrX:20060693A>G	BC089400	CCDS14195.1, CCDS55384.1, CCDS55385.1, CCDS55386.1	Xp22.12	2008-02-05			ENSG00000184368	ENSG00000184368			25899	protein-coding gene	gene with protein product						12477932	Standard	NM_152780		Approved	FLJ14503	uc010nfo.2	Q96T17	OTTHUMG00000021228	ENST00000379651.3:c.811T>C	X.37:g.20060693A>G	ENSP00000368972:p.Phe271Leu					MAP7D2_ENST00000452324.3_Missense_Mutation_p.F219L|MAP7D2_ENST00000443379.3_Missense_Mutation_p.F226L|MAP7D2_ENST00000379643.5_Missense_Mutation_p.F312L|MAP7D2_ENST00000543767.1_Missense_Mutation_p.F156L	p.F271L	NM_152780.3	NP_689993.2	Q96T17	MA7D2_HUMAN			7	829	-			271					B7Z2J8|B7Z3S7|B9EGC7|C9JMA4|C9JYW0|Q5EBN1|Q5JPS7|Q6PIC7|Q8N792	Missense_Mutation	SNP	ENST00000379651.3	37	c.811T>C	CCDS14195.1	1	6.027727546714888E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	A	1.659	-0.511992	0.04200	0.004172	2.97E-4	ENSG00000184368	ENST00000379651;ENST00000379643;ENST00000543767;ENST00000443379;ENST00000452324	T;T;T;T;T	0.03553	3.89;3.89;3.89;3.89;3.89	5.43	1.6	0.23607	.	0.915045	0.09342	N	0.815306	T	0.01287	0.0042	N	0.00823	-1.155	0.09310	N	1	B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0	B;B;B;B;B	0.04013	0.0;0.001;0.001;0.0;0.001	T	0.48647	-0.9017	10	0.25751	T	0.34	0.8419	4.4589	0.11656	0.3738:0.1553:0.4709:0.0	.	226;219;312;271;156	B7Z3S7;C9JYW0;Q96T17-2;Q96T17;F5GYC2	.;.;.;MA7D2_HUMAN;.	L	271;312;156;226;219	ENSP00000368972:F271L;ENSP00000368964:F312L;ENSP00000440691:F156L;ENSP00000388239:F226L;ENSP00000413301:F219L	ENSP00000368964:F312L	F	-	1	0	MAP7D2	19970614	0.005000	0.15991	0.000000	0.03702	0.000000	0.00434	0.244000	0.18124	-0.043000	0.13513	-0.287000	0.09952	TTC		0.512	MAP7D2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000056001.1	NM_152780		6	132	0	0	0	1	0	6	132					G	20060693	A	G	20060693	3	3	308	1	0	0	0	0	1	0	0	0	9268	72	3	4	1423	4	MAP7D2	23	20060693	Missense_Mutation	SNP	A	TCGA-KK-A59Z-01A-12D-A26M-08		20060693	135209867	63	15814											
GUCY2F	2986	broad.mit.edu	37	chrX	108719047	108719047	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gctgcggaagggacatgacaGacagaaggcacaagcaccac	15	2	13	11	1	0	3	0	1	0	2	0	5	0	5	1	3	2	3	1	3	3	0	rs34228145	byFrequency	TCGA-KK-A59Z-01A-12D-A26M-08	TCGA-KK-A59Z-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fb84b2b-2982-40fd-81c4-64892a963f04	5c810244-da67-425d-8315-da8c34d6a16f	g.chrX:108719047G>C	ENST00000218006.2	-	2	410	c.119C>G	c.(118-120)tCt>tGt	p.S40C		NM_001522.2	NP_001513.2	P51841	GUC2F_HUMAN	guanylate cyclase 2F, retinal	40			S -> C (in dbSNP:rs34228145). {ECO:0000269|PubMed:17344846}.		intracellular signal transduction (GO:0035556)|phototransduction, visible light (GO:0007603)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|nuclear outer membrane (GO:0005640)|photoreceptor disc membrane (GO:0097381)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|protein kinase activity (GO:0004672)|receptor activity (GO:0004872)			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(6)|large_intestine(14)|lung(33)|prostate(3)|skin(1)	67						GGACATGACAGACAGAAGGCA	0.562											OREG0019905	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G|||	30	0.00794702	0.0197	0.0043	3775	,	,		13267	0		0.001	False		,,,				2504	0					ENST00000218006.2																			0				breast(3)|central_nervous_system(2)|endometrium(5)|kidney(6)|large_intestine(14)|lung(33)|prostate(3)|skin(1)	67						c.(118-120)tCt>tGt		guanylate cyclase 2F, retinal		G	CYS/SER	82,3753		0,65,17,1567,554	91	77	82		119	0.7	0	X	dbSNP_126	82	0,6728		0,0,0,2428,1872	yes	missense	GUCY2F	NM_001522.2	112	0,65,17,3995,2426	CC,CG,C,GG,G		0.0,2.1382,0.7763	benign	40/1109	108719047	82,10481	2203	4300	6503	SO:0001583	missense	2986				intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception	integral to plasma membrane|nuclear outer membrane	ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity	g.chrX:108719047G>C	L37378	CCDS14545.1	Xq22	2008-08-01			ENSG00000101890	ENSG00000101890			4691	protein-coding gene	gene with protein product	"guanylate cyclase 2D-like, membrane (retina-specific)"	300041				8838319, 7777544	Standard	NM_001522		Approved	GUC2DL, GC-F, RetGC-2, ROS-GC2, CYGF	uc004eod.4	P51841	OTTHUMG00000022184	ENST00000218006.2:c.119C>G	X.37:g.108719047G>C	ENSP00000218006:p.Ser40Cys		OREG0019905	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1414		p.S40C	NM_001522.2	NP_001513.2	P51841	GUC2F_HUMAN			2	410	-			40		S -> C (in dbSNP:rs34228145).			Q9UJF1	Missense_Mutation	SNP	ENST00000218006.2	37	c.119C>G	CCDS14545.1	9	0.0054249547920434	6	0.012295081967213115	0	0.0	0	0.0	0	0.0	G	0.793	-0.758065	0.03019	0.021382	0.0	ENSG00000101890	ENST00000218006	T	0.79141	-1.24	4.42	0.664	0.17890	.	0.722572	0.13809	N	0.361230	T	0.40546	0.1121	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.31475	-0.9942	10	0.38643	T	0.18	.	10.2198	0.43190	0.3462:0.0:0.6538:0.0	rs34228145	40	P51841	GUC2F_HUMAN	C	40	ENSP00000218006:S40C	ENSP00000218006:S40C	S	-	2	0	GUCY2F	108605703	0.006000	0.16342	0.020000	0.16555	0.007000	0.05969	0.243000	0.18106	-0.228000	0.09869	-0.905000	0.02835	TCT		0.562	GUCY2F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057884.1	NM_001522		4	62	0	0	0	1	0	4	62					C	108719047	G	C	108719047	3	2	308	1	0	0	0	0	1	0	0	0	6898	942	33	5	3279	5	GUCY2F	23	108719047	Missense_Mutation	SNP	G	TCGA-KK-A59Z-01A-12D-A26M-08	88658354	108719047	46551513	64	15815											
NPPA	4878	broad.mit.edu	37	chr1	11907408	11907408	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ggagggggctgagagcagccCccgcttcttcattcggctca	6	8	14	13	2	3	1	2	1	1	1	4	3	3	2	2	4	2	4	2	4	0	3			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr1:11907408C>T	ENST00000376480.3	-	2	310	c.212G>A	c.(211-213)gGg>gAg	p.G71E	NPPA-AS1_ENST00000400892.2_RNA|NPPA-AS1_ENST00000446542.1_RNA|NPPA_ENST00000376476.1_Missense_Mutation_p.G21E	NM_006172.3	NP_006163.1	P01160	ANF_HUMAN	natriuretic peptide A	71					cardiac muscle hypertrophy in response to stress (GO:0014898)|cellular response to mechanical stimulus (GO:0071260)|cGMP biosynthetic process (GO:0006182)|female pregnancy (GO:0007565)|gene expression (GO:0010467)|negative regulation of cell growth (GO:0030308)|negative regulation of systemic arterial blood pressure (GO:0003085)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of blood pressure (GO:0008217)|regulation of blood vessel size (GO:0050880)|response to hypoxia (GO:0001666)|response to insulin (GO:0032868)|transcription initiation from RNA polymerase II promoter (GO:0006367)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|mast cell granule (GO:0042629)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	receptor binding (GO:0005102)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	10	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00149)|all_lung(284;0.00189)|Breast(348;0.00586)|Colorectal(325;0.0062)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0556)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.04e-06)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|Kidney(185;0.000733)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GAGAGCAGCCCCCGCTTCTTC	0.602																																						ENST00000376480.3																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	10						c.(211-213)gGg>gAg		natriuretic peptide A							39	45	43					1																	11907408		2202	4300	6502	SO:0001583	missense	4878				cGMP biosynthetic process|receptor guanylyl cyclase signaling pathway|regulation of blood pressure|regulation of blood vessel size	extracellular region	hormone activity	g.chr1:11907408C>T	BC005893	CCDS139.1	1p36.21	2014-09-17	2010-11-09		ENSG00000175206	ENSG00000175206		"Endogenous ligands"	7939	protein-coding gene	gene with protein product		108780	"natriuretic peptide precursor A"	ANP, PND			Standard	NM_006172		Approved		uc001ati.3	P01160	OTTHUMG00000002388	ENST00000376480.3:c.212G>A	1.37:g.11907408C>T	ENSP00000365663:p.Gly71Glu					NPPA-AS1_ENST00000400892.2_RNA|NPPA_ENST00000376476.1_Missense_Mutation_p.G21E|NPPA-AS1_ENST00000446542.1_RNA	p.G71E	NM_006172.3	NP_006163.1	P01160	ANF_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.04e-06)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|Kidney(185;0.000733)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)	2	310	-	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00149)|all_lung(284;0.00189)|Breast(348;0.00586)|Colorectal(325;0.0062)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0556)|Ovarian(437;0.0731)	71					Q13766|Q5JZE1	Missense_Mutation	SNP	ENST00000376480.3	37	c.212G>A	CCDS139.1	.	.	.	.	.	.	.	.	.	.	C	9.287	1.049572	0.19827	.	.	ENSG00000175206	ENST00000376480;ENST00000376476	T	0.43294	0.95	5.84	2.92	0.33932	.	0.344763	0.32218	N	0.006419	T	0.41903	0.1179	M	0.79805	2.47	0.09310	N	0.999997	P	0.46395	0.877	B	0.40636	0.335	T	0.44251	-0.9340	10	0.66056	D	0.02	-13.0578	6.2266	0.20711	0.0:0.6827:0.152:0.1653	.	71	P01160	ANF_HUMAN	E	71;21	ENSP00000365663:G71E	ENSP00000365659:G21E	G	-	2	0	NPPA	11829995	0.029000	0.19370	0.017000	0.16124	0.146000	0.21551	0.222000	0.17699	0.364000	0.24374	0.561000	0.74099	GGG		0.602	NPPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006852.1	NM_006172		7	75	0	0	0	1	0	7	75					T	11907408	C	T	11907408	3	4	309	1	0	0	0	0	1	0	0	0	10591	623	22	3	251	3	NPPA	1	11907408	Missense_Mutation	SNP	C	TCGA-KK-A5A1-01A-11D-A29Q-08		11907408	237343213	1	15816											
PLOD1	5351	broad.mit.edu	37	chr1	12030871	12030871	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctaccccggctactacaccAgggtgggcaagcctggggca	8	6	13	14	1	1	0	0	0	1	0	1	0	1	0	4	5	4	3	4	5	4	3			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr1:12030871A>G	ENST00000196061.4	+	17	1927	c.1900A>G	c.(1900-1902)Agg>Ggg	p.R634G	PLOD1_ENST00000376369.3_Missense_Mutation_p.R681G	NM_000302.3	NP_000293.2	Q02809	PLOD1_HUMAN	procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1	634					cellular protein modification process (GO:0006464)|epidermis development (GO:0008544)|extracellular matrix organization (GO:0030198)|hydroxylysine biosynthetic process (GO:0046947)|oxidation-reduction process (GO:0055114)|response to hypoxia (GO:0001666)	endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|procollagen-lysine 5-dioxygenase activity (GO:0008475)|protein homodimerization activity (GO:0042803)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	29	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.06e-06)|COAD - Colon adenocarcinoma(227;0.000273)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000809)|KIRC - Kidney renal clear cell carcinoma(229;0.00267)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)	Succinic acid(DB00139)|Vitamin C(DB00126)	CTACTACACCAGGGTGGGCAA	0.607																																						ENST00000196061.4																			0				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	29						c.(1900-1902)Agg>Ggg		procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1	Minoxidil(DB00350)|Succinic acid(DB00139)|Vitamin C(DB00126)						45	41	43					1																	12030871		2202	4300	6502	SO:0001583	missense	5351				epidermis development|hydroxylysine biosynthetic process|protein modification process|response to hypoxia	rough endoplasmic reticulum membrane	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein homodimerization activity	g.chr1:12030871A>G	BC016657	CCDS142.1	1p36.22	2011-08-25	2011-08-24	2004-12-14	ENSG00000083444	ENSG00000083444	1.14.11.4		9081	protein-coding gene	gene with protein product	"lysyl hydroxlase 1"	153454	"procollagen-lysine 1, 2-oxoglutarate 5-dioxygenase (lysine hydroxylase, Ehlers-Danlos syndrome type VI)"	LLH, PLOD		1577494	Standard	NM_000302		Approved	LH1	uc001atm.3	Q02809	OTTHUMG00000002393	ENST00000196061.4:c.1900A>G	1.37:g.12030871A>G	ENSP00000196061:p.Arg634Gly					PLOD1_ENST00000376369.3_Missense_Mutation_p.R681G	p.R634G	NM_000302.3	NP_000293.2	Q02809	PLOD1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.06e-06)|COAD - Colon adenocarcinoma(227;0.000273)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000809)|KIRC - Kidney renal clear cell carcinoma(229;0.00267)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)	17	1927	+	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)	634					B4DR87|Q96AV9|Q9H132	Missense_Mutation	SNP	ENST00000196061.4	37	c.1900A>G	CCDS142.1	.	.	.	.	.	.	.	.	.	.	A	17.35	3.366566	0.61513	.	.	ENSG00000083444	ENST00000414311;ENST00000376369;ENST00000196061	T;T	0.63913	-0.07;-0.06	5.94	4.8	0.61643	Prolyl 4-hydroxylase, alpha subunit (1);	0.230680	0.51477	D	0.000081	T	0.53850	0.1822	L	0.44542	1.39	0.51767	D	0.999933	B;B	0.25007	0.116;0.025	B;B	0.19148	0.024;0.022	T	0.52533	-0.8563	10	0.66056	D	0.02	.	12.5521	0.56231	0.8608:0.1392:0.0:0.0	.	681;634	B4DR87;Q02809	.;PLOD1_HUMAN	G	298;681;634	ENSP00000365548:R681G;ENSP00000196061:R634G	ENSP00000196061:R634G	R	+	1	2	PLOD1	11953458	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	5.130000	0.64745	1.053000	0.40415	0.459000	0.35465	AGG		0.607	PLOD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000006865.1	NM_000302		3	36	0	0	0	1	0	3	36					G	12030871	A	G	12030871	3	3	309	1	0	0	0	0	1	0	0	0	12101	179	7	4	1966	4	PLOD1	1	12030871	Missense_Mutation	SNP	A	TCGA-KK-A5A1-01A-11D-A29Q-08	123463	12030871	237219750	2	15817											
PRAMEF1	65121	broad.mit.edu	37	chr1	12855601	12855601	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ccacaggtgcctccagaaccCcttggagaacttggaattaa	12	8	9	12	0	0	2	0	0	0	2	1	4	1	3	5	3	3	0	5	3	4	3			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr1:12855601C>A	ENST00000332296.7	+	4	984	c.881C>A	c.(880-882)cCc>cAc	p.P294H	PRAMEF1_ENST00000400814.3_Missense_Mutation_p.P49H	NM_023013.2	NP_075389.1	O95521	PRAM1_HUMAN	PRAME family member 1	294					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)					cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		CTCCAGAACCCCTTGGAGAAC	0.463																																						ENST00000332296.7																			0				cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35						c.(880-882)cCc>cAc		PRAME family member 1							41	45	44					1																	12855601		2164	4237	6401	SO:0001583	missense	65121							g.chr1:12855601C>A	AL049686	CCDS148.1	1p36.21	2013-01-17			ENSG00000116721	ENSG00000116721		"-"	28840	protein-coding gene	gene with protein product							Standard	NM_023013		Approved		uc001auj.2	O95521	OTTHUMG00000001928	ENST00000332296.7:c.881C>A	1.37:g.12855601C>A	ENSP00000332134:p.Pro294His					PRAMEF1_ENST00000400814.3_Missense_Mutation_p.P49H	p.P294H	NM_023013.2	NP_075389.1	O95521	PRAM1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)	4	984	+	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)	294					Q9UQP2	Missense_Mutation	SNP	ENST00000332296.7	37	c.881C>A	CCDS148.1	.	.	.	.	.	.	.	.	.	.	.	9.140	1.013509	0.19277	.	.	ENSG00000116721	ENST00000332296;ENST00000400814	T;T	0.00922	5.54;5.54	1.56	0.632	0.17705	.	0.065895	0.64402	D	0.000011	T	0.04137	0.0115	M	0.88310	2.945	0.09310	N	1	D	0.64830	0.994	D	0.65684	0.937	T	0.20240	-1.0281	10	0.66056	D	0.02	.	4.1172	0.10088	0.0:0.7761:0.0:0.2239	.	294	O95521	PRAM1_HUMAN	H	294;49	ENSP00000332134:P294H;ENSP00000383616:P49H	ENSP00000332134:P294H	P	+	2	0	PRAMEF1	12778188	0.002000	0.14202	0.050000	0.19076	0.002000	0.02628	0.906000	0.28517	0.228000	0.21019	-0.974000	0.02594	CCC		0.463	PRAMEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005458.1	NM_023013		11	138	1	0	3.07112e-06	1	3.45203e-06	11	138					A	12855601	C	A	12855601	3	1	309	1	0	0	0	0	1	0	0	0	12425	623	22	5	891	5	PRAMEF1	1	12855601	Missense_Mutation	SNP	C	TCGA-KK-A5A1-01A-11D-A29Q-08	824730	12855601	236395020	3	15818											
ZMYM4	9202	broad.mit.edu	37	chr1	35884163	35884163	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tccgactttatgagttttacCtgtcaaaatggtaatctttc	10	17	6	8	1	2	1	1	1	1	0	4	2	3	1	2	1	1	2	2	1	5	6			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr1:35884163C>T	ENST00000314607.6	+	29	4509	c.4429C>T	c.(4429-4431)Ctg>Ttg	p.L1477L	ZMYM4_ENST00000373297.2_Silent_p.L1388L	NM_005095.2	NP_005086.2	Q5VZL5	ZMYM4_HUMAN	zinc finger, MYM-type 4	1477					cytoskeleton organization (GO:0007010)|multicellular organismal development (GO:0007275)|regulation of cell morphogenesis (GO:0022604)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(16)|ovary(2)|prostate(3)|skin(2)	54		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				TGAGTTTTACCTGTCAAAATG	0.413																																						ENST00000314607.6																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(16)|ovary(2)|prostate(3)|skin(2)	54						c.(4429-4431)Ctg>Ttg		zinc finger, MYM-type 4							133	120	124					1																	35884163		2203	4300	6503	SO:0001819	synonymous_variant	9202				multicellular organismal development		DNA binding|zinc ion binding	g.chr1:35884163C>T	AB007885	CCDS389.1	1p34-p32	2013-01-08	2005-12-19	2005-12-19	ENSG00000146463	ENSG00000146463		"Zinc fingers, MYM type"	13055	protein-coding gene	gene with protein product		613568	"zinc finger protein 262"	ZNF262		10449923	Standard	NM_005095		Approved	KIAA0425, ZNF198L3, MYM	uc001byt.3	Q5VZL5	OTTHUMG00000004241	ENST00000314607.6:c.4429C>T	1.37:g.35884163C>T						ZMYM4_ENST00000373297.2_Silent_p.L1388L	p.L1477L	NM_005095.2	NP_005086.2	Q5VZL5	ZMYM4_HUMAN			29	4509	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)	1477					A0JP19|A0JP20|O43308|Q5T5E1|Q5T5E2|Q7L3Q4	Silent	SNP	ENST00000314607.6	37	c.4429C>T	CCDS389.1	.	.	.	.	.	.	.	.	.	.	C	8.865	0.947888	0.18356	.	.	ENSG00000146463	ENST00000457946	.	.	.	5.84	0.806	0.18708	.	.	.	.	.	T	0.56247	0.1972	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.50566	-0.8813	4	.	.	.	-6.1429	9.3112	0.37905	0.0:0.5459:0.0:0.4541	.	.	.	.	L	1135	.	.	P	+	2	0	ZMYM4	35656750	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	0.736000	0.26130	0.390000	0.25115	0.650000	0.86243	CCT		0.413	ZMYM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012207.3	NM_005095		4	50	0	0	0	1	0	4	50					T	35884163	C	T	35884163	2	4	309	1	0	0	0	0	0	0	0	1	17699	680	24	3		3	ZMYM4	1	35884163	Silent	SNP	C	TCGA-KK-A5A1-01A-11D-A29Q-08	23028562	35884163	213366458	4	15819											
GJA8	2703	broad.mit.edu	37	chr1	147380242	147380242	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgagcaatccgacttcgtgTgcaacacccagcagcctggc	10	7	10	14	2	0	1	0	1	0	0	2	2	1	1	3	1	5	3	3	1	2	1			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr1:147380242T>C	ENST00000369235.1	+	1	160	c.160T>C	c.(160-162)Tgc>Cgc	p.C54R	GJA8_ENST00000240986.4_Missense_Mutation_p.C54R			P48165	CXA8_HUMAN	gap junction protein, alpha 8, 50kDa	54					cell-cell signaling (GO:0007267)|lens development in camera-type eye (GO:0002088)|protein homooligomerization (GO:0051260)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	connexon complex (GO:0005922)|integral component of plasma membrane (GO:0005887)	channel activity (GO:0015267)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)	37	all_hematologic(923;0.0276)					CGACTTCGTGTGCAACACCCA	0.592																																					Melanoma(76;1255 1795 8195 52096)	ENST00000240986.4																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)	37						c.(160-162)Tgc>Cgc		gap junction protein, alpha 8, 50kDa							137	109	118					1																	147380242		2203	4300	6503	SO:0001583	missense	2703				cell communication|visual perception	connexon complex|integral to plasma membrane	channel activity	g.chr1:147380242T>C	U34802	CCDS30834.1	1q21.1	2008-02-05	2007-01-16		ENSG00000121634	ENSG00000121634		"Ion channels / Gap junction proteins (connexins)"	4281	protein-coding gene	gene with protein product	"connexin 50"	600897	"gap junction protein, alpha 8, 50kD (connexin 50)", "gap junction protein, alpha 8, 50kDa (connexin 50)"	CAE1, CZP1, CAE		9497259, 7796604	Standard	NM_005267		Approved	CX50	uc001epu.2	P48165	OTTHUMG00000024085	ENST00000369235.1:c.160T>C	1.37:g.147380242T>C	ENSP00000358238:p.Cys54Arg					GJA8_ENST00000369235.1_Missense_Mutation_p.C54R	p.C54R	NM_005267.4	NP_005258.2	P48165	CXA8_HUMAN			2	213	+	all_hematologic(923;0.0276)		54					A7L5M5|Q5VVN9|Q9NP25	Missense_Mutation	SNP	ENST00000369235.1	37	c.160T>C	CCDS30834.1	.	.	.	.	.	.	.	.	.	.	t	20.2	3.949675	0.73787	.	.	ENSG00000121634	ENST00000240986;ENST00000369235	D;D	0.99741	-6.6;-6.6	5.0	5.0	0.66597	Connexin, conserved site (1);Connexin, N-terminal (2);	0.000000	0.85682	D	0.000000	D	0.99832	0.9924	H	0.97186	3.955	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.96616	0.9456	10	0.87932	D	0	.	14.6739	0.68964	0.0:0.0:0.0:1.0	.	54	P48165	CXA8_HUMAN	R	54	ENSP00000240986:C54R;ENSP00000358238:C54R	ENSP00000240986:C54R	C	+	1	0	GJA8	145846866	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.975000	0.88055	1.862000	0.54008	0.402000	0.26972	TGC		0.592	GJA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060647.1	NM_005267		5	60	0	0	0	1	0	5	60					C	147380242	T	C	147380242	3	2	309	1	0	0	0	0	1	0	0	0	6405	1696	59	4	162	4	GJA8	1	147380242	Missense_Mutation	SNP	T	TCGA-KK-A5A1-01A-11D-A29Q-08	111496079	147380242	101870379	5	15820											
TDRKH	11022	broad.mit.edu	37	chr1	151748667	151748667	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ttctccaaggtgccgaggacCcgggctcgataccaggaacc	9	6	12	14	3	1	0	0	0	1	0	3	4	1	2	5	4	3	1	5	4	3	2			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr1:151748667C>T	ENST00000368822.1	-	8	1755	c.1122G>A	c.(1120-1122)cgG>cgA	p.R374R	TDRKH_ENST00000368827.6_Silent_p.R374R|TDRKH_ENST00000484421.1_5'Flank|TDRKH_ENST00000458431.2_Silent_p.R374R|TDRKH_ENST00000368824.3_Silent_p.R374R|TDRKH_ENST00000440583.2_Silent_p.R150R|TDRKH_ENST00000368823.1_Silent_p.R370R|TDRKH_ENST00000368825.3_Silent_p.R329R			Q9Y2W6	TDRKH_HUMAN	tudor and KH domain containing	374	Tudor. {ECO:0000255|PROSITE- ProRule:PRU00211}.				cell differentiation (GO:0030154)|DNA methylation involved in gamete generation (GO:0043046)|fertilization (GO:0009566)|gene silencing by RNA (GO:0031047)|male meiosis (GO:0007140)|piRNA metabolic process (GO:0034587)|spermatogenesis (GO:0007283)	mitochondrion (GO:0005739)|pi-body (GO:0071546)|piP-body (GO:0071547)	RNA binding (GO:0003723)			breast(5)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			TGCCGAGGACCCGGGCTCGAT	0.507																																						ENST00000368822.1																			0				breast(5)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26						c.(1120-1122)cgG>cgA		tudor and KH domain containing							100	98	98					1																	151748667		1906	4137	6043	SO:0001819	synonymous_variant	11022						RNA binding	g.chr1:151748667C>T	AF227192	CCDS41394.1, CCDS41395.1	1q21	2013-01-23	2003-11-07		ENSG00000182134	ENSG00000182134		"Tudor domain containing"	11713	protein-coding gene	gene with protein product		609501	"tudor and KH domain containing"			10767542	Standard	NM_001083964		Approved	TDRD2	uc001eza.4	Q9Y2W6	OTTHUMG00000013062	ENST00000368822.1:c.1122G>A	1.37:g.151748667C>T						TDRKH_ENST00000458431.2_Silent_p.R374R|TDRKH_ENST00000368825.3_Silent_p.R329R|TDRKH_ENST00000368827.6_Silent_p.R374R|TDRKH_ENST00000440583.2_Silent_p.R150R|TDRKH_ENST00000368823.1_Silent_p.R370R|TDRKH_ENST00000368824.3_Silent_p.R374R	p.R374R			Q9Y2W6	TDRKH_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.181)		8	1755	-	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		374			Tudor.		D3DV24|Q5SZR3|Q5SZR5|Q8N582|Q9NYV5	Silent	SNP	ENST00000368822.1	37	c.1122G>A	CCDS41394.1																																																																																				0.507	TDRKH-005	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000036648.2	NM_006862		7	76	0	0	0	1	0	7	76					T	151748667	C	T	151748667	2	4	309	1	0	0	0	0	0	0	0	1	15734	610	22	3		3	TDRKH	1	151748667	Silent	SNP	C	TCGA-KK-A5A1-01A-11D-A29Q-08	4368425	151748667	97501954	6	15821											
LCE1A	353131	broad.mit.edu	37	chr1	152800112	152800112	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cggaggctgctgtggctccaGctctgggggcggctgcagct	3	8	18	12	2	1	0	0	0	1	0	2	1	2	1	1	6	4	7	1	6	0	0	rs571386054	byFrequency	TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr1:152800112G>T	ENST00000335123.2	+	1	164	c.164G>T	c.(163-165)aGc>aTc	p.S55I		NM_178348.2	NP_848125.1	Q5T7P2	LCE1A_HUMAN	late cornified envelope 1A	55	Cys-rich.				keratinization (GO:0031424)					endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)|skin(1)	8	Lung NSC(65;9.06e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			TGTGGCTCCAGCTCTGGGGGC	0.667																																						ENST00000335123.2																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)|skin(1)	8						c.(163-165)aGc>aTc		late cornified envelope 1A							35	41	39					1																	152800112		2203	4300	6503	SO:0001583	missense	353131				keratinization			g.chr1:152800112G>T		CCDS1028.1	1q21.3	2011-01-28			ENSG00000186844	ENSG00000186844		"Late cornified envelopes"	29459	protein-coding gene	gene with protein product		612603				11698679	Standard	NM_178348		Approved	LEP1	uc010pdw.2	Q5T7P2	OTTHUMG00000012447	ENST00000335123.2:c.164G>T	1.37:g.152800112G>T	ENSP00000334869:p.Ser55Ile						p.S55I	NM_178348.2	NP_848125.1	Q5T7P2	LCE1A_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		1	164	+	Lung NSC(65;9.06e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		55			Cys-rich.			Missense_Mutation	SNP	ENST00000335123.2	37	c.164G>T	CCDS1028.1	.	.	.	.	.	.	.	.	.	.	G	10.14	1.269362	0.23221	.	.	ENSG00000186844	ENST00000368766;ENST00000335123	T;T	0.05025	3.51;3.51	3.37	3.37	0.38596	.	.	.	.	.	T	0.11707	0.0285	M	0.66506	2.035	0.24227	N	0.995416	D	0.69078	0.997	D	0.78314	0.991	T	0.03268	-1.1054	9	0.87932	D	0	.	10.4138	0.44309	0.0:0.0:1.0:0.0	.	55	Q5T7P2	LCE1A_HUMAN	I	55	ENSP00000357755:S55I;ENSP00000334869:S55I	ENSP00000334869:S55I	S	+	2	0	LCE1A	151066736	0.636000	0.27207	1.000000	0.80357	0.846000	0.48090	1.903000	0.39858	1.857000	0.53885	0.563000	0.77884	AGC		0.667	LCE1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034660.2	NM_178348		12	80	1	0	1.15088e-07	1	1.35673e-07	12	80					T	152800112	G	T	152800112	3	4	309	1	0	0	0	0	1	0	0	0	8659	971	34	5	166	5	LCE1A	1	152800112	Missense_Mutation	SNP	G	TCGA-KK-A5A1-01A-11D-A29Q-08	1051445	152800112	96450509	7	15822											
OR10Z1	128368	broad.mit.edu	37	chr1	158576638	158576638	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccactatgccagccacatgaAtcctaccctctgtgcccagc	9	8	6	18	0	1	1	0	1	1	0	2	1	2	1	6	0	5	0	6	0	3	2			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr1:158576638A>G	ENST00000361284.1	+	1	410	c.410A>G	c.(409-411)aAt>aGt	p.N137S		NM_001004478.1	NP_001004478.1	Q8NGY1	O10Z1_HUMAN	olfactory receptor, family 10, subfamily Z, member 1	137						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|large_intestine(6)|lung(21)|pancreas(1)|prostate(3)|skin(4)	37	all_hematologic(112;0.0378)					AGCCACATGAATCCTACCCTC	0.512																																						ENST00000361284.1																			0				endometrium(2)|large_intestine(6)|lung(21)|pancreas(1)|prostate(3)|skin(4)	37						c.(409-411)aAt>aGt		olfactory receptor, family 10, subfamily Z, member 1							94	94	94					1																	158576638		2203	4300	6503	SO:0001583	missense	128368				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158576638A>G	AB065635	CCDS30901.1	1q23.1	2012-08-23			ENSG00000198967	ENSG00000198967		"GPCR / Class A : Olfactory receptors"	14996	protein-coding gene	gene with protein product							Standard	NM_001004478		Approved		uc010pio.2	Q8NGY1	OTTHUMG00000019637	ENST00000361284.1:c.410A>G	1.37:g.158576638A>G	ENSP00000354707:p.Asn137Ser						p.N137S	NM_001004478.1	NP_001004478.1	Q8NGY1	O10Z1_HUMAN			1	410	+	all_hematologic(112;0.0378)		137					Q5VYL0|Q6IFR7	Missense_Mutation	SNP	ENST00000361284.1	37	c.410A>G	CCDS30901.1	.	.	.	.	.	.	.	.	.	.	A	0.660	-0.805942	0.02819	.	.	ENSG00000198967	ENST00000361284	T	0.34667	1.35	5.3	1.32	0.21799	GPCR, rhodopsin-like superfamily (1);	0.896444	0.09352	N	0.813964	T	0.02380	0.0073	N	0.01522	-0.82	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.44329	-0.9335	10	0.02654	T	1	.	3.7544	0.08579	0.5179:0.0:0.3237:0.1584	.	137	Q8NGY1	O10Z1_HUMAN	S	137	ENSP00000354707:N137S	ENSP00000354707:N137S	N	+	2	0	OR10Z1	156843262	0.000000	0.05858	0.043000	0.18650	0.803000	0.45373	-0.848000	0.04326	0.046000	0.15833	0.533000	0.62120	AAT		0.512	OR10Z1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051853.1	NM_001004478		29	64	0	0	0	1	0	29	64					G	158576638	A	G	158576638	3	3	309	1	0	0	0	0	1	0	0	0	10923	101	4	4	412	4	OR10Z1	1	158576638	Missense_Mutation	SNP	A	TCGA-KK-A5A1-01A-11D-A29Q-08	5776526	158576638	90673983	8	15823											
LY9	4063	broad.mit.edu	37	chr1	160784292	160784292	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	gtcaccctgccacttgcactCccagcctgccgggacacaga	8	6	9	18	1	1	1	1	0	0	1	2	2	2	2	5	1	4	1	5	1	0	1			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr1:160784292C>G	ENST00000263285.6	+	4	843	c.813C>G	c.(811-813)ctC>ctG	p.L271L	LY9_ENST00000368040.1_5'UTR|LY9_ENST00000392203.4_Silent_p.L271L|LY9_ENST00000368041.2_Silent_p.L231L|LY9_ENST00000341032.4_Silent_p.L271L|LY9_ENST00000471816.1_3'UTR|LY9_ENST00000368037.5_Silent_p.L271L			Q9HBG7	LY9_HUMAN	lymphocyte antigen 9	271	Ig-like V-type 2.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			CACTTGCACTCCCAGCCTGCC	0.547																																						ENST00000263285.5																			0				autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36						c.(811-813)ctC>ctG		lymphocyte antigen 9							86	83	84					1																	160784292		2203	4300	6503	SO:0001819	synonymous_variant	4063				cell adhesion|immunoglobulin mediated immune response	integral to membrane		g.chr1:160784292C>G	L42621	CCDS30916.1, CCDS30917.1, CCDS65695.1, CCDS65696.1	1q23.3	2013-01-11			ENSG00000122224	ENSG00000122224		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6730	protein-coding gene	gene with protein product		600684				8537117, 7797269	Standard	NM_001261457		Approved	CD229, mLY9, SLAMF3, hly9	uc001fwu.4	Q9HBG7	OTTHUMG00000024007	ENST00000263285.6:c.813C>G	1.37:g.160784292C>G						LY9_ENST00000341032.4_Silent_p.L271L|LY9_ENST00000471816.1_3'UTR|LY9_ENST00000368041.2_Silent_p.L231L|LY9_ENST00000368040.1_5'UTR	p.L271L	NM_001261456.1|NM_002348.3	NP_001248385.1|NP_002339.2	Q9HBG7	LY9_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00737)		4	843	+	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)		271			Ig-like V-type 2.		A8K7N3|Q14775|Q5VYI3|Q6P2J4|Q9H4N5|Q9NQ24	Silent	SNP	ENST00000263285.6	37	c.813C>G	CCDS30916.1																																																																																				0.547	LY9-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060457.3	NM_002348		28	74	0	0	0	1	0	28	74					G	160784292	C	G	160784292	2	3	309	1	0	0	0	0	0	0	0	1	9101	842	30	5		5	LY9	1	160784292	Silent	SNP	C	TCGA-KK-A5A1-01A-11D-A29Q-08	2207654	160784292	88466329	9	15824											
DUSP27	92235	broad.mit.edu	37	chr1	167095768	167095768	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaccacggcaggaggcgccGcgcagactcgatgtcctcgg	7	4	16	14	6	0	1	0	0	0	1	3	4	1	3	3	5	0	2	3	5	0	0			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr1:167095768G>A	ENST00000361200.2	+	6	1566	c.1400G>A	c.(1399-1401)cGc>cAc	p.R467H	DUSP27_ENST00000485151.1_Intron|DUSP27_ENST00000443333.1_Missense_Mutation_p.R467H|DUSP27_ENST00000271385.5_Missense_Mutation_p.R467H			Q5VZP5	DUS27_HUMAN	dual specificity phosphatase 27 (putative)	467					protein dephosphorylation (GO:0006470)		protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.R467H(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						AGGAGGCGCCGCGCAGACTCG	0.652																																						ENST00000361200.2																			1	Substitution - Missense(1)	p.R467H(1)	lung(1)	NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						c.(1399-1401)cGc>cAc		dual specificity phosphatase 27 (putative)							21	21	21					1																	167095768		2202	4300	6502	SO:0001583	missense	92235				protein dephosphorylation		protein tyrosine/serine/threonine phosphatase activity	g.chr1:167095768G>A	AF119045	CCDS30932.1	1q22-q24	2008-02-05			ENSG00000198842	ENSG00000198842			25034	protein-coding gene	gene with protein product							Standard	NM_001080426		Approved		uc001geb.1	Q5VZP5	OTTHUMG00000034434	ENST00000361200.2:c.1400G>A	1.37:g.167095768G>A	ENSP00000354483:p.Arg467His					DUSP27_ENST00000271385.5_Missense_Mutation_p.R467H|DUSP27_ENST00000443333.1_Missense_Mutation_p.R467H|DUSP27_ENST00000485151.1_Intron	p.R467H			Q5VZP5	DUS27_HUMAN			6	1566	+			467					A0AUM4|Q9C074	Missense_Mutation	SNP	ENST00000361200.2	37	c.1400G>A	CCDS30932.1	.	.	.	.	.	.	.	.	.	.	G	13.16	2.155451	0.38021	.	.	ENSG00000198842	ENST00000361200;ENST00000271385;ENST00000443333	T;T;T	0.03607	3.87;3.87;3.87	5.02	4.1	0.47936	.	0.086313	0.49305	D	0.000150	T	0.02649	0.0080	M	0.67953	2.075	0.30396	N	0.780517	B	0.19817	0.039	B	0.12156	0.007	T	0.12268	-1.0554	10	0.87932	D	0	-16.6929	13.7869	0.63115	0.076:0.0:0.924:0.0	.	467	Q5VZP5	DUS27_HUMAN	H	467	ENSP00000354483:R467H;ENSP00000271385:R467H;ENSP00000404874:R467H	ENSP00000271385:R467H	R	+	2	0	DUSP27	165362392	0.650000	0.27331	0.790000	0.31976	0.263000	0.26337	2.340000	0.43974	2.291000	0.77112	0.643000	0.83706	CGC		0.652	DUSP27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083244.1	NM_001080426		3	33	0	0	0	1	0	3	33					A	167095768	G	A	167095768	3	1	309	1	0	0	0	0	1	0	0	0	4824	1087	38	1	1418	1	DUSP27	1	167095768	Missense_Mutation	SNP	G	TCGA-KK-A5A1-01A-11D-A29Q-08	6311476	167095768	82154853	10	15825											
SEC16B	89866	broad.mit.edu	37	chr1	177909845	177909845	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgacagcttcagtttctctGctagctgtgccaggtttcca	6	14	9	12	0	2	1	1	1	1	0	4	1	3	1	2	1	4	5	2	1	1	4			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr1:177909845G>A	ENST00000308284.6	-	17	2116	c.2027C>T	c.(2026-2028)gCa>gTa	p.A676V	RP4-798P15.3_ENST00000354921.3_RNA	NM_033127.2	NP_149118.2	Q96JE7	SC16B_HUMAN	SEC16 homolog B (S. cerevisiae)	676					COPII vesicle coating (GO:0048208)|endoplasmic reticulum organization (GO:0007029)|peroxisome fission (GO:0016559)|peroxisome organization (GO:0007031)|positive regulation of gene expression (GO:0010628)|positive regulation of protein exit from endoplasmic reticulum (GO:0070863)|protein localization to endoplasmic reticulum (GO:0070972)|protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|Golgi membrane (GO:0000139)|intracellular membrane-bounded organelle (GO:0043231)				central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)|stomach(1)	35						CAGTTTCTCTGCTAGCTGTGC	0.517																																						ENST00000308284.6																			0				central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)|stomach(1)	35						c.(2026-2028)gCa>gTa		SEC16 homolog B (S. cerevisiae)							41	45	43					1																	177909845		2015	4178	6193	SO:0001583	missense	89866				protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane		g.chr1:177909845G>A	AK090411	CCDS44281.1	1q25.2	2012-10-08	2007-06-20	2007-06-20	ENSG00000120341	ENSG00000120341			30301	protein-coding gene	gene with protein product	"regucalcin gene promotor region related protein"	612855	"leucine zipper transcription regulator 2"	LZTR2		11572484, 11605020	Standard	NM_033127		Approved	RGPR, PGPR-p117	uc001gli.1	Q96JE7	OTTHUMG00000167206	ENST00000308284.6:c.2027C>T	1.37:g.177909845G>A	ENSP00000308339:p.Ala676Val					RP4-798P15.3_ENST00000528461.1_3'UTR|RP4-798P15.3_ENST00000354921.2_5'UTR	p.A676V	NM_033127.2	NP_149118.2	Q96JE7	SC16B_HUMAN			17	2116	-			676					A3EYF1|Q5HYF6|Q8N7D6|Q96GX6	Missense_Mutation	SNP	ENST00000308284.6	37	c.2027C>T	CCDS44281.1	.	.	.	.	.	.	.	.	.	.	G	14.73	2.623333	0.46840	.	.	ENSG00000120341	ENST00000308284;ENST00000414025;ENST00000239472	T	0.17854	2.25	5.64	5.64	0.86602	.	0.180091	0.39083	N	0.001475	T	0.36880	0.0983	M	0.64080	1.96	0.50813	D	0.999895	P;D;D;D	0.58970	0.877;0.984;0.967;0.984	P;P;P;P	0.62014	0.781;0.867;0.897;0.867	T	0.02307	-1.1179	10	0.54805	T	0.06	-10.1195	15.1982	0.73112	0.0:0.0:1.0:0.0	.	231;677;676;373	B1AM07;B1AM08;Q96JE7;Q96PW0	.;.;SC16B_HUMAN;.	V	676;360;391	ENSP00000308339:A676V	ENSP00000239472:A391V	A	-	2	0	AL359075.1	176176468	0.997000	0.39634	0.417000	0.26559	0.265000	0.26407	5.081000	0.64444	2.652000	0.90054	0.655000	0.94253	GCA		0.517	SEC16B-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084773.16	NM_033127		6	27	0	0	0	1	0	6	27					A	177909845	G	A	177909845	3	1	309	1	0	0	0	0	1	0	0	0	13987	1319	46	3	1195	3	SEC16B	1	177909845	Missense_Mutation	SNP	G	TCGA-KK-A5A1-01A-11D-A29Q-08	10814077	177909845	71340776	11	15826											
PTGS2	5743	broad.mit.edu	37	chr1	186648456	186648456	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	accaaaggacaaacttacgtGttgagcagttttctccatag	13	11	8	9	1	1	1	0	1	1	0	2	2	1	2	2	1	3	3	2	1	4	5			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr1:186648456G>T	ENST00000367468.5	-	2	303	c.167C>A	c.(166-168)aCa>aAa	p.T56K	RP5-973M2.2_ENST00000608917.1_lincRNA|PTGS2_ENST00000490885.2_5'UTR	NM_000963.2	NP_000954.1	P35354	PGH2_HUMAN	prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase)	56					anagen (GO:0042640)|angiogenesis (GO:0001525)|arachidonic acid metabolic process (GO:0019369)|bone mineralization (GO:0030282)|brown fat cell differentiation (GO:0050873)|cellular component movement (GO:0006928)|cellular response to ATP (GO:0071318)|cellular response to hypoxia (GO:0071456)|cellular response to mechanical stimulus (GO:0071260)|cellular response to UV (GO:0034644)|cyclooxygenase pathway (GO:0019371)|decidualization (GO:0046697)|embryo implantation (GO:0007566)|inflammatory response (GO:0006954)|learning (GO:0007612)|lipoxygenase pathway (GO:0019372)|maintenance of blood-brain barrier (GO:0035633)|memory (GO:0007613)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell proliferation (GO:0008285)|negative regulation of smooth muscle contraction (GO:0045986)|negative regulation of synaptic transmission, dopaminergic (GO:0032227)|ovulation (GO:0030728)|positive regulation of apoptotic process (GO:0043065)|positive regulation of brown fat cell differentiation (GO:0090336)|positive regulation of cell migration involved in sprouting angiogenesis (GO:0090050)|positive regulation of fever generation (GO:0031622)|positive regulation of fibroblast growth factor production (GO:0090271)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of platelet-derived growth factor production (GO:0090362)|positive regulation of prostaglandin biosynthetic process (GO:0031394)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of synaptic plasticity (GO:0031915)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transforming growth factor beta production (GO:0071636)|positive regulation of vasoconstriction (GO:0045907)|positive regulation vascular endothelial growth factor production (GO:0010575)|prostaglandin biosynthetic process (GO:0001516)|prostaglandin metabolic process (GO:0006693)|regulation of blood pressure (GO:0008217)|regulation of inflammatory response (GO:0050727)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to fatty acid (GO:0070542)|response to fructose (GO:0009750)|response to glucocorticoid (GO:0051384)|response to lipopolysaccharide (GO:0032496)|response to lithium ion (GO:0010226)|response to manganese ion (GO:0010042)|response to oxidative stress (GO:0006979)|response to tumor necrosis factor (GO:0034612)|response to vitamin D (GO:0033280)|sensory perception of pain (GO:0019233)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|neuron projection (GO:0043005)|nucleus (GO:0005634)|protein complex (GO:0043234)	arachidonate 15-lipoxygenase activity (GO:0050473)|enzyme binding (GO:0019899)|heme binding (GO:0020037)|lipid binding (GO:0008289)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)|prostaglandin-endoperoxide synthase activity (GO:0004666)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	27					Acetaminophen(DB00316)|Acetylsalicylic acid(DB00945)|Aldesleukin(DB00041)|Aminosalicylic Acid(DB00233)|Antipyrine(DB01435)|Antrafenine(DB01419)|Balsalazide(DB01014)|Bromfenac(DB00963)|Bumetanide(DB00887)|Carprofen(DB00821)|Celecoxib(DB00482)|Chlorphenesin(DB00856)|Cisplatin(DB00515)|Clodronate(DB00720)|Dapsone(DB00250)|Desmopressin(DB00035)|Diclofenac(DB00586)|Diflunisal(DB00861)|Dihomo-gamma-linolenic acid(DB00154)|Drospirenone(DB01395)|Etanercept(DB00005)|Etodolac(DB00749)|Etoposide(DB00773)|Etoricoxib(DB01628)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|Ginseng(DB01404)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lenalidomide(DB00480)|Lornoxicam(DB06725)|Lumiracoxib(DB01283)|Magnesium salicylate(DB01397)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mesalazine(DB00244)|Nabumetone(DB00461)|Naproxen(DB00788)|Nepafenac(DB06802)|Niflumic Acid(DB04552)|Nonoxynol-9(DB06804)|Oxaprozin(DB00991)|Phenylbutazone(DB00812)|Piroxicam(DB00554)|Pomalidomide(DB08910)|Risedronate(DB00884)|Salicylate-sodium(DB01398)|Salicylic acid(DB00936)|Salsalate(DB01399)|Sulfasalazine(DB00795)|Sulindac(DB00605)|Suprofen(DB00870)|Tafluprost(DB08819)|Tenoxicam(DB00469)|Tetrahydrobiopterin(DB00360)|Thalidomide(DB01041)|Tiaprofenic acid(DB01600)|Tolmetin(DB00500)|Triamcinolone(DB00620)|Trisalicylate-choline(DB01401)	AAACTTACGTGTTGAGCAGTT	0.428																																						ENST00000367468.5																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	27						c.(166-168)aCa>aAa		prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase)	Acetaminophen(DB00316)|Aspirin(DB00945)|Balsalazide(DB01014)|Bromfenac(DB00963)|Carprofen(DB00821)|Celecoxib(DB00482)|Ciclopirox(DB01188)|Diclofenac(DB00586)|Diflunisal(DB00861)|Epoprostenol(DB01240)|Etodolac(DB00749)|Etoricoxib(DB01628)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|gamma-Homolinolenic acid(DB00154)|Ginseng(DB01404)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lenalidomide(DB00480)|Lumiracoxib(DB01283)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mesalazine(DB00244)|Nabumetone(DB00461)|Naproxen(DB00788)|Oxaprozin(DB00991)|Phenylbutazone(DB00812)|Rofecoxib(DB00533)|Salicyclic acid(DB00936)|Salsalate(DB01399)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Thalidomide(DB01041)|Tiaprofenic acid(DB01600)|Tolmetin(DB00500)|Valdecoxib(DB00580)						135	113	120					1																	186648456		2203	4300	6503	SO:0001583	missense	5743				cellular component movement|cyclooxygenase pathway|hormone biosynthetic process|positive regulation of brown fat cell differentiation|positive regulation of cell migration involved in sprouting angiogenesis|positive regulation of fever generation|positive regulation of fibroblast growth factor production|positive regulation of nitric oxide biosynthetic process|positive regulation of platelet-derived growth factor production|positive regulation of prostaglandin biosynthetic process|positive regulation of transforming growth factor-beta production|positive regulation vascular endothelial growth factor production|regulation of blood pressure|response to oxidative stress|xenobiotic metabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|microsome|neuron projection|nucleus	enzyme binding|heme binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peroxidase activity|prostaglandin-endoperoxide synthase activity	g.chr1:186648456G>T	D28235	CCDS1371.1	1q25.2-q25.3	2008-02-05			ENSG00000073756	ENSG00000073756	1.14.99.1		9605	protein-coding gene	gene with protein product		600262				1380156	Standard	NM_000963		Approved	COX2	uc001gsb.3	P35354	OTTHUMG00000035473	ENST00000367468.5:c.167C>A	1.37:g.186648456G>T	ENSP00000356438:p.Thr56Lys					PTGS2_ENST00000490885.2_5'UTR	p.T56K	NM_000963.2	NP_000954.1	P35354	PGH2_HUMAN			2	303	-			56					A8K802|Q16876	Missense_Mutation	SNP	ENST00000367468.5	37	c.167C>A	CCDS1371.1	.	.	.	.	.	.	.	.	.	.	G	14.66	2.600397	0.46423	.	.	ENSG00000073756	ENST00000367468	T	0.63580	-0.05	5.27	5.27	0.74061	.	0.094532	0.64402	D	0.000001	T	0.52224	0.1721	L	0.42008	1.315	0.58432	D	0.999999	B	0.02656	0.0	B	0.04013	0.001	T	0.46105	-0.9215	10	0.17832	T	0.49	-16.5824	13.4825	0.61345	0.0:0.0:0.8435:0.1565	.	56	P35354	PGH2_HUMAN	K	56	ENSP00000356438:T56K	ENSP00000356438:T56K	T	-	2	0	PTGS2	184915079	0.998000	0.40836	0.974000	0.42286	0.979000	0.70002	3.126000	0.50477	2.444000	0.82710	0.655000	0.94253	ACA		0.428	PTGS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086157.2	NM_000963		4	64	1	0	0.150653	1	0.15276	4	64					T	186648456	G	T	186648456	3	4	309	1	0	0	0	0	1	0	0	0	12756	1377	48	5	1683	5	PTGS2	1	186648456	Missense_Mutation	SNP	G	TCGA-KK-A5A1-01A-11D-A29Q-08	8738611	186648456	62602165	12	15827											
FAM5C	339479	broad.mit.edu	37	chr1	190129985	190129985	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agatgtgttgaggaaataatTcataggtagccttttcataa	14	14	9	4	0	2	2	2	1	0	1	2	3	2	3	1	2	1	2	1	2	5	8			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr1:190129985T>A	ENST00000367462.3	-	7	1228	c.997A>T	c.(997-999)Aat>Tat	p.N333Y	BRINP3_ENST00000534846.1_Missense_Mutation_p.N231Y	NM_199051.1	NP_950252.1	Q76B58	BRNP3_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 3	333					cell cycle arrest (GO:0007050)|cellular response to retinoic acid (GO:0071300)|negative regulation of mitotic cell cycle (GO:0045930)|positive regulation of neuron differentiation (GO:0045666)	dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)											AGGAAATAATTCATAGGTAGC	0.299																																						ENST00000367462.3																			0				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2)	164						c.(997-999)Aat>Tat									88	97	94					1																	190129985		2203	4300	6503	SO:0001583	missense	0					extracellular region		g.chr1:190129985T>A	AB111893	CCDS1373.1	1q31.1	2013-09-18	2013-09-18	2013-09-18	ENSG00000162670	ENSG00000162670			22393	protein-coding gene	gene with protein product			"family with sequence similarity 5, member C"	FAM5C		16018821, 15193423	Standard	NM_199051		Approved	DBCCR1L, DBCCR1L1	uc001gse.1	Q76B58	OTTHUMG00000035533	ENST00000367462.3:c.997A>T	1.37:g.190129985T>A	ENSP00000356432:p.Asn333Tyr					FAM5C_ENST00000534846.1_Missense_Mutation_p.N231Y|FAM5C_ENST00000484105.1_5'UTR	p.N333Y	NM_199051.1	NP_950252.1	Q76B58	FAM5C_HUMAN			7	1228	-	Prostate(682;0.198)		333					B3KVP1|B7Z260|O95726|Q2M330	Missense_Mutation	SNP	ENST00000367462.3	37	c.997A>T	CCDS1373.1	.	.	.	.	.	.	.	.	.	.	T	14.43	2.533330	0.45073	.	.	ENSG00000162670	ENST00000367462;ENST00000534846	T;T	0.18657	2.46;2.2	5.75	3.37	0.38596	.	0.000000	0.85682	D	0.000000	T	0.34861	0.0912	L	0.50333	1.59	0.48975	D	0.999735	D;B	0.71674	0.998;0.244	D;B	0.73380	0.98;0.069	T	0.03728	-1.1009	10	0.72032	D	0.01	.	7.1498	0.25604	0.0:0.0779:0.1473:0.7749	.	231;333	B7Z260;Q76B58	.;FAM5C_HUMAN	Y	333;231	ENSP00000356432:N333Y;ENSP00000438022:N231Y	ENSP00000356432:N333Y	N	-	1	0	FAM5C	188396608	1.000000	0.71417	0.869000	0.34112	0.995000	0.86356	4.715000	0.61909	0.417000	0.25871	0.467000	0.42956	AAT		0.299	BRINP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086278.1	NM_199051		17	44	0	0	0	1	0	17	44					A	190129985	T	A	190129985	3	1	309	1	0	0	0	0	1	0	0	0	5594	1783	62	5	1311	5	FAM5C	1	190129985	Missense_Mutation	SNP	T	TCGA-KK-A5A1-01A-11D-A29Q-08	3481529	190129985	59120636	13	15828											
F13B	2165	broad.mit.edu	37	chr1	197032024	197032024	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggagaccagccttctgttgtAcacgtggtttgctcttcttg	5	15	11	10	1	3	1	0	0	3	1	3	2	3	1	2	2	3	4	2	2	1	6			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr1:197032024A>G	ENST00000367412.1	-	2	271	c.228T>C	c.(226-228)tgT>tgC	p.C76C		NM_001994.2	NP_001985.2	P05160	F13B_HUMAN	coagulation factor XIII, B polypeptide	76	Sushi 1. {ECO:0000255|PROSITE- ProRule:PRU00302}.				blood coagulation (GO:0007596)	extracellular region (GO:0005576)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(40)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	66						CTTCTGTTGTACACGTGGTTT	0.378																																						ENST00000367412.1																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(40)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	66						c.(226-228)tgT>tgC		coagulation factor XIII, B polypeptide							172	182	178					1																	197032024		2203	4300	6503	SO:0001819	synonymous_variant	2165				blood coagulation	extracellular region		g.chr1:197032024A>G	M14057	CCDS1388.1	1q31-q32.1	2012-10-02			ENSG00000143278	ENSG00000143278			3534	protein-coding gene	gene with protein product		134580				2339067, 2271707	Standard	NM_001994		Approved	FXIIIB	uc001gtt.1	P05160	OTTHUMG00000036519	ENST00000367412.1:c.228T>C	1.37:g.197032024A>G							p.C76C	NM_001994.2	NP_001985.2	P05160	F13B_HUMAN			2	271	-			76			Sushi 1.		A8K3E5|Q5VYL5	Silent	SNP	ENST00000367412.1	37	c.228T>C	CCDS1388.1																																																																																				0.378	F13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088821.2	NM_001994		27	136	0	0	0	1	0	27	136					G	197032024	A	G	197032024	2	3	309	1	0	0	0	0	0	0	0	1	5341	389	14	4		4	F13B	1	197032024	Silent	SNP	A	TCGA-KK-A5A1-01A-11D-A29Q-08	6902039	197032024	52218597	14	15829											
CAMK1G	57172	broad.mit.edu	37	chr1	209785550	209785550	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cccacactcctcaaaaaggcCaacaaaaaacagtacgtatt	18	6	4	13	1	1	0	1	0	0	0	2	0	2	0	3	1	3	2	3	1	8	3			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr1:209785550C>A	ENST00000009105.1	+	11	1574	c.1329C>A	c.(1327-1329)gcC>gcA	p.A443A	CAMK1G_ENST00000361322.2_Silent_p.A443A			Q96NX5	KCC1G_HUMAN	calcium/calmodulin-dependent protein kinase IG	443			A -> T (in a breast infiltrating ductal carcinoma sample; somatic mutation). {ECO:0000269|PubMed:17344846}.			calcium- and calmodulin-dependent protein kinase complex (GO:0005954)|Golgi apparatus (GO:0005794)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)			breast(2)|central_nervous_system(1)|large_intestine(8)|lung(8)|stomach(1)	20				OV - Ovarian serous cystadenocarcinoma(81;0.0475)		TCAAAAAGGCCAACAAAAAAC	0.527																																					Ovarian(163;530 1939 9680 28669 48710)	ENST00000009105.1																			0				breast(2)|central_nervous_system(1)|large_intestine(8)|lung(8)|stomach(1)	20						c.(1327-1329)gcC>gcA		calcium/calmodulin-dependent protein kinase IG							28	30	30					1																	209785550		2203	4296	6499	SO:0001819	synonymous_variant	57172					Golgi membrane|plasma membrane	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity	g.chr1:209785550C>A		CCDS1486.1	1q32.2	2012-09-20			ENSG00000008118	ENSG00000008118			14585	protein-coding gene	gene with protein product		614994				12637513	Standard	NM_020439		Approved	VWS1, CLICKIII, dJ272L16.1	uc001hhd.3	Q96NX5	OTTHUMG00000036361	ENST00000009105.1:c.1329C>A	1.37:g.209785550C>A						CAMK1G_ENST00000361322.2_Silent_p.A443A	p.A443A			Q96NX5	KCC1G_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0475)	11	1574	+			443		A -> T (in a breast infiltrating ductal carcinoma sample; somatic mutation).			Q86UH5|Q9Y3J7	Silent	SNP	ENST00000009105.1	37	c.1329C>A	CCDS1486.1																																																																																				0.527	CAMK1G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088526.1	NM_020439		8	56	1	0	0.00307968	1	0.0033078	8	56					A	209785550	C	A	209785550	2	1	309	1	0	0	0	0	0	0	0	1	2598	581	21	5		5	CAMK1G	1	209785550	Silent	SNP	C	TCGA-KK-A5A1-01A-11D-A29Q-08	12753526	209785550	39465071	15	15830											
TGFB2	7042	broad.mit.edu	37	chr1	218520075	218520075	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtgctgagcgcttttctgaTcctgcatctggtcacggtcg	4	14	12	11	3	3	2	1	2	2	0	5	2	4	2	1	2	3	3	1	2	0	2			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr1:218520075T>C	ENST00000366930.4	+	1	499	c.32T>C	c.(31-33)aTc>aCc	p.I11T	TGFB2_ENST00000366929.4_Missense_Mutation_p.I11T|RP11-224O19.2_ENST00000414452.1_RNA	NM_003238.3	NP_003229.1	P61812	TGFB2_HUMAN	transforming growth factor, beta 2	11					activation of protein kinase activity (GO:0032147)|angiogenesis (GO:0001525)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|blood vessel remodeling (GO:0001974)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac muscle cell proliferation (GO:0060038)|cardioblast differentiation (GO:0010002)|cartilage condensation (GO:0001502)|catagen (GO:0042637)|cell cycle arrest (GO:0007050)|cell death (GO:0008219)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell morphogenesis (GO:0000902)|cell proliferation (GO:0008283)|cell-cell junction organization (GO:0045216)|cell-cell signaling (GO:0007267)|collagen fibril organization (GO:0030199)|dopamine biosynthetic process (GO:0042416)|embryo development (GO:0009790)|embryonic digestive tract development (GO:0048566)|epithelial to mesenchymal transition (GO:0001837)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway (GO:0097191)|eye development (GO:0001654)|face morphogenesis (GO:0060325)|generation of neurons (GO:0048699)|glial cell migration (GO:0008347)|hair follicle development (GO:0001942)|hair follicle morphogenesis (GO:0031069)|heart development (GO:0007507)|heart morphogenesis (GO:0003007)|hemopoiesis (GO:0030097)|menstrual cycle phase (GO:0022601)|negative regulation of alkaline phosphatase activity (GO:0010693)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of immune response (GO:0050777)|negative regulation of macrophage cytokine production (GO:0010936)|neuron development (GO:0048666)|neuron fate commitment (GO:0048663)|neutrophil chemotaxis (GO:0030593)|odontogenesis (GO:0042476)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of activation-induced cell death of T cells (GO:0070237)|positive regulation of cardioblast differentiation (GO:0051891)|positive regulation of catagen (GO:0051795)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell division (GO:0051781)|positive regulation of cell growth (GO:0030307)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of gene expression (GO:0010628)|positive regulation of heart contraction (GO:0045823)|positive regulation of immune response (GO:0050778)|positive regulation of integrin biosynthetic process (GO:0045726)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of ossification (GO:0045778)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein secretion (GO:0050714)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein phosphorylation (GO:0006468)|regulation of transforming growth factor beta2 production (GO:0032909)|response to drug (GO:0042493)|response to hypoxia (GO:0001666)|response to progesterone (GO:0032570)|response to wounding (GO:0009611)|salivary gland morphogenesis (GO:0007435)|signal transduction by phosphorylation (GO:0023014)|SMAD protein import into nucleus (GO:0007184)|somatic stem cell division (GO:0048103)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	axon (GO:0030424)|endosome (GO:0005768)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|neuronal cell body (GO:0043025)|platelet alpha granule lumen (GO:0031093)	beta-amyloid binding (GO:0001540)|cytokine activity (GO:0005125)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|transforming growth factor beta receptor binding (GO:0005160)|type II transforming growth factor beta receptor binding (GO:0005114)			breast(1)|endometrium(1)|large_intestine(11)|lung(15)|upper_aerodigestive_tract(2)|urinary_tract(1)	31				all cancers(67;0.0459)|OV - Ovarian serous cystadenocarcinoma(81;0.049)|GBM - Glioblastoma multiforme(131;0.0776)		GCTTTTCTGATCCTGCATCTG	0.443																																						ENST00000366929.4																			0				breast(1)|endometrium(1)|large_intestine(11)|lung(15)|upper_aerodigestive_tract(2)|urinary_tract(1)	31						c.(31-33)aTc>aCc		transforming growth factor, beta 2							71	72	72					1																	218520075		2203	4300	6503	SO:0001583	missense	7042				activation of protein kinase activity|angiogenesis|cardiac epithelial to mesenchymal transition|cardiac muscle cell proliferation|cardioblast differentiation|catagen|cell cycle arrest|cell death|cell growth|cell-cell junction organization|cell-cell signaling|collagen fibril organization|dopamine biosynthetic process|embryonic digestive tract development|eye development|glial cell migration|hair follicle morphogenesis|hemopoiesis|menstrual cycle phase|negative regulation of alkaline phosphatase activity|negative regulation of cell growth|negative regulation of epithelial cell proliferation|negative regulation of immune response|negative regulation of macrophage cytokine production|neuron development|neutrophil chemotaxis|odontogenesis|pathway-restricted SMAD protein phosphorylation|platelet activation|platelet degranulation|positive regulation of cardioblast differentiation|positive regulation of catagen|positive regulation of cell adhesion mediated by integrin|positive regulation of cell cycle|positive regulation of cell division|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of epithelial cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of heart contraction|positive regulation of immune response|positive regulation of integrin biosynthetic process|positive regulation of neuron apoptosis|positive regulation of ossification|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein secretion|positive regulation of stress-activated MAPK cascade|regulation of transforming growth factor-beta2 production|response to hypoxia|response to progesterone stimulus|salivary gland morphogenesis|SMAD protein import into nucleus|somatic stem cell division|transforming growth factor beta receptor signaling pathway	axon|extracellular matrix|extracellular space|neuronal cell body|platelet alpha granule lumen	beta-amyloid binding|cytokine activity|growth factor activity|protein heterodimerization activity|protein homodimerization activity|receptor signaling protein serine/threonine kinase activity|type II transforming growth factor beta receptor binding	g.chr1:218520075T>C	M19154	CCDS1521.1, CCDS44318.1	1q41	2014-01-30			ENSG00000092969	ENSG00000092969		"Endogenous ligands"	11768	protein-coding gene	gene with protein product	"prepro-transforming growth factor beta-2"	190220					Standard	NM_003238		Approved		uc001hln.3	P61812	OTTHUMG00000039521	ENST00000366930.4:c.32T>C	1.37:g.218520075T>C	ENSP00000355897:p.Ile11Thr					TGFB2_ENST00000366930.4_Missense_Mutation_p.I11T	p.I11T	NM_001135599.2	NP_001129071.1	P61812	TGFB2_HUMAN		all cancers(67;0.0459)|OV - Ovarian serous cystadenocarcinoma(81;0.049)|GBM - Glioblastoma multiforme(131;0.0776)	1	499	+			11					B4DKC5|P08112|Q15579|Q15581|Q4VAV9	Missense_Mutation	SNP	ENST00000366930.4	37	c.32T>C	CCDS1521.1	.	.	.	.	.	.	.	.	.	.	T	11.73	1.727133	0.30593	.	.	ENSG00000092969	ENST00000366930;ENST00000366929	T;T	0.74209	-0.77;-0.82	5.8	2.22	0.28083	.	0.686270	0.15546	N	0.256662	T	0.40015	0.1100	N	0.00707	-1.245	0.19945	N	0.999946	B;B;B	0.11235	0.0;0.0;0.004	B;B;B	0.12837	0.001;0.002;0.008	T	0.37150	-0.9718	10	0.42905	T	0.14	.	6.3527	0.21385	0.0:0.5623:0.0:0.4377	.	11;11;12	P61812-2;P61812;Q59EG9	.;TGFB2_HUMAN;.	T	11	ENSP00000355897:I11T;ENSP00000355896:I11T	ENSP00000355896:I11T	I	+	2	0	TGFB2	216586698	0.536000	0.26378	0.494000	0.27515	0.988000	0.76386	1.560000	0.36331	0.475000	0.27415	0.482000	0.46254	ATC		0.443	TGFB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095359.2	NM_003238		9	93	0	0	0	1	0	9	93					C	218520075	T	C	218520075	3	2	309	1	0	0	0	0	1	0	0	0	15815	1435	50	4	34	4	TGFB2	1	218520075	Missense_Mutation	SNP	T	TCGA-KK-A5A1-01A-11D-A29Q-08	8734525	218520075	30730546	16	15831											
KMO	8564	broad.mit.edu	37	chr1	241713007	241713007	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctaccttcacacgtggaaGaagcattaacttagcccttt	11	11	8	11	1	1	1	1	0	0	1	1	2	1	2	2	2	4	2	2	2	5	5			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr1:241713007G>T	ENST00000366559.4	+	3	466	c.155G>T	c.(154-156)aGa>aTa	p.R52I	KMO_ENST00000366558.3_Missense_Mutation_p.R52I|KMO_ENST00000484628.1_3'UTR|KMO_ENST00000366557.4_Missense_Mutation_p.R52I	NM_003679.4	NP_003670.2			kynurenine 3-monooxygenase (kynurenine 3-hydroxylase)									p.R52I(1)		NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)	33	Ovarian(103;0.103)|all_lung(81;0.23)		OV - Ovarian serous cystadenocarcinoma(106;0.0176)			ACACGTGGAAGAAGCATTAAC	0.423																																						ENST00000366559.4																			1	Substitution - Missense(1)	p.R52I(1)	large_intestine(1)	NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)	33						c.(154-156)aGa>aTa		kynurenine 3-monooxygenase (kynurenine 3-hydroxylase)							175	154	161					1																	241713007		2203	4300	6503	SO:0001583	missense	8564				pyridine nucleotide biosynthetic process|response to salt stress	cytosol|integral to membrane|mitochondrial outer membrane	electron carrier activity|flavin adenine dinucleotide binding|kynurenine 3-monooxygenase activity|NAD(P)H oxidase activity	g.chr1:241713007G>T	AF056032	CCDS1618.1	1q42-q44	2010-11-23			ENSG00000117009	ENSG00000117009	1.14.13.9		6381	protein-coding gene	gene with protein product		603538				9237672	Standard	NM_003679		Approved		uc009xgp.3	O15229	OTTHUMG00000039635	ENST00000366559.4:c.155G>T	1.37:g.241713007G>T	ENSP00000355517:p.Arg52Ile					KMO_ENST00000484628.1_3'UTR|KMO_ENST00000366558.3_Missense_Mutation_p.R52I|KMO_ENST00000366557.4_Missense_Mutation_p.R52I	p.R52I	NM_003679.4	NP_003670.2	O15229	KMO_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0176)		3	466	+	Ovarian(103;0.103)|all_lung(81;0.23)		52						Missense_Mutation	SNP	ENST00000366559.4	37	c.155G>T	CCDS1618.1	.	.	.	.	.	.	.	.	.	.	G	26.7	4.764121	0.89932	.	.	ENSG00000117009	ENST00000366559;ENST00000366558;ENST00000366557	T;T;T	0.51817	0.69;0.69;0.69	5.37	5.37	0.77165	Monooxygenase, FAD-binding (1);	0.000000	0.85682	D	0.000000	T	0.75817	0.3901	M	0.93594	3.435	0.80722	D	1	D;D;D	0.76494	0.999;0.996;0.999	D;D;D	0.74348	0.983;0.972;0.97	T	0.82139	-0.0605	10	0.87932	D	0	.	14.9668	0.71201	0.0:0.0:1.0:0.0	.	52;52;52	O15229;A8K693;O15229-2	KMO_HUMAN;.;.	I	52	ENSP00000355517:R52I;ENSP00000355516:R52I;ENSP00000355515:R52I	ENSP00000355515:R52I	R	+	2	0	KMO	239779630	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.994000	0.76251	2.677000	0.91161	0.655000	0.94253	AGA		0.423	KMO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095612.1	NM_003679		25	92	1	0	1.33986e-20	1	1.66051e-20	25	92					T	241713007	G	T	241713007	3	4	309	1	0	0	0	0	1	0	0	0	8424	942	33	5	165	5	KMO	1	241713007	Missense_Mutation	SNP	G	TCGA-KK-A5A1-01A-11D-A29Q-08	23192932	241713007	7537614	17	15832											
WDR64	128025	broad.mit.edu	37	chr1	241912941	241912941	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggacgagcactgcctacgaCgcctcattttcctcaaagcc	10	8	8	15	3	2	0	2	0	0	0	3	3	3	1	4	1	4	1	4	1	2	3	rs76254601	byFrequency	TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr1:241912941C>T	ENST00000366552.2	+	13	1864	c.1657C>T	c.(1657-1659)Cgc>Tgc	p.R553C	WDR64_ENST00000437684.2_Missense_Mutation_p.R553C	NM_144625.4	NP_653226.4	B1ANS9	WDR64_HUMAN	WD repeat domain 64	553										breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(17)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	Ovarian(103;0.103)	all_cancers(173;0.0121)	OV - Ovarian serous cystadenocarcinoma(106;0.0116)			CTGCCTACGACGCCTCATTTT	0.532													C|||	20	0.00399361	0.0144	0.0014	5008	,	,		16914	0		0	False		,,,				2504	0					ENST00000366552.2																			0				breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(17)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						c.(1657-1659)Cgc>Tgc		WD repeat domain 64		C	CYS/ARG	53,4353	53.6+/-89.4	0,53,2150	155	150	152		1657	4.2	0	1	dbSNP_131	152	0,8600		0,0,4300	yes	missense	WDR64	NM_144625.4	180	0,53,6450	TT,TC,CC		0.0,1.2029,0.4075	benign	553/1082	241912941	53,12953	2203	4300	6503	SO:0001583	missense	128025							g.chr1:241912941C>T	AK057540		1q43	2013-01-09			ENSG00000162843	ENSG00000162843		"WD repeat domain containing"	26570	protein-coding gene	gene with protein product							Standard	NM_144625		Approved	FLJ32978	uc001hzg.2	B1ANS9	OTTHUMG00000039705	ENST00000366552.2:c.1657C>T	1.37:g.241912941C>T	ENSP00000355510:p.Arg553Cys					WDR64_ENST00000437684.2_Missense_Mutation_p.R553C	p.R553C	NM_144625.4	NP_653226.4	B1ANS9	WDR64_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0116)		13	1864	+	Ovarian(103;0.103)	all_cancers(173;0.0121)	553					B1ANT0|Q7Z573|Q96LY9	Missense_Mutation	SNP	ENST00000366552.2	37	c.1657C>T		7	0.003205128205128205	6	0.012195121951219513	1	0.0027624309392265192	0	0.0	0	0.0	C	12.69	2.015077	0.35511	0.012029	0.0	ENSG00000162843	ENST00000366552;ENST00000437684;ENST00000414635	T;T;T	0.47869	0.83;0.83;0.83	6.06	4.18	0.49190	WD40 repeat-like-containing domain (1);	1.101940	0.06714	N	0.773800	T	0.39009	0.1062	L	0.47716	1.5	0.09310	N	0.999999	B;D	0.62365	0.082;0.991	B;B	0.44315	0.005;0.446	T	0.28038	-1.0056	10	0.52906	T	0.07	-0.2958	10.4617	0.44583	0.1388:0.699:0.1623:0.0	.	553;273	B1ANS9;D1MPS4	WDR64_HUMAN;.	C	553;553;324	ENSP00000355510:R553C;ENSP00000402446:R553C;ENSP00000406656:R324C	ENSP00000355510:R553C	R	+	1	0	WDR64	239979564	0.032000	0.19561	0.028000	0.17463	0.003000	0.03518	1.511000	0.35801	0.871000	0.35750	-0.182000	0.12963	CGC		0.532	WDR64-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_144625		29	83	0	0	0	1	0	29	83					T	241912941	C	T	241912941	3	4	309	1	0	0	0	0	1	0	0	0	17312	536	19	1	1707	1	WDR64	1	241912941	Missense_Mutation	SNP	C	TCGA-KK-A5A1-01A-11D-A29Q-08	199934	241912941	7337680	18	15833											
KIF26B	55083	broad.mit.edu	37	chr1	245852063	245852063	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagaacagcagctccgtgggCggcaggtgccggagcctcaa	9	4	16	12	3	1	1	1	0	0	1	2	3	2	2	3	4	5	3	3	4	2	0			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr1:245852063C>A	ENST00000407071.2	+	12	6218	c.5778C>A	c.(5776-5778)ggC>ggA	p.G1926G	KIF26B_ENST00000366518.4_Silent_p.G1545G	NM_018012.3	NP_060482.2	Q2KJY2	KI26B_HUMAN	kinesin family member 26B	1926					establishment of cell polarity (GO:0030010)|metabolic process (GO:0008152)|positive regulation of cell-cell adhesion (GO:0022409)|ureteric bud invasion (GO:0072092)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		OV - Ovarian serous cystadenocarcinoma(106;0.022)			GCTCCGTGGGCGGCAGGTGCC	0.716																																						ENST00000366518.4																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51						c.(4633-4635)ggC>ggA		kinesin family member 26B							10	13	12					1																	245852063		1979	4056	6035	SO:0001819	synonymous_variant	55083				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr1:245852063C>A	AK001019	CCDS44342.1	1q44	2008-02-05			ENSG00000162849	ENSG00000162849		"Kinesins"	25484	protein-coding gene	gene with protein product		614026					Standard	NM_018012		Approved	FLJ10157	uc001ibf.1	Q2KJY2	OTTHUMG00000040079	ENST00000407071.2:c.5778C>A	1.37:g.245852063C>A						KIF26B_ENST00000407071.2_Silent_p.G1926G	p.G1545G			Q2KJY2	KI26B_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.022)		9	4739	+	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		1926					Q6ZQR9|Q6ZUZ0|Q8IUN3|Q8IVR1|Q9NWB4	Silent	SNP	ENST00000407071.2	37	c.4635C>A	CCDS44342.1																																																																																				0.716	KIF26B-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381037.1	XM_371354		10	21	1	0	0.0581538	1	0.060664	10	21					A	245852063	C	A	245852063	2	1	309	1	0	0	0	0	0	0	0	1	8295	755	27	5		5	KIF26B	1	245852063	Silent	SNP	C	TCGA-KK-A5A1-01A-11D-A29Q-08	3939122	245852063	3398558	19	15834											
APOB	338	broad.mit.edu	37	chr2	21228379	21228379	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acttcagggaattttacctcGgggagtgttggtaggttgag	8	13	15	5	1	1	1	1	1	0	0	2	3	1	3	1	5	1	3	1	5	3	6	rs200979977		TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr2:21228379G>A	ENST00000233242.1	-	26	11488	c.11361C>T	c.(11359-11361)ccC>ccT	p.P3787P		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	3787					artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ATTTTACCTCGGGGAGTGTTG	0.398																																						ENST00000233242.1																			0				NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305						c.(11359-11361)ccC>ccT		apolipoprotein B	Atorvastatin(DB01076)						119	122	121					2																	21228379		2203	4300	6503	SO:0001819	synonymous_variant	338				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	g.chr2:21228379G>A	M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"Apolipoproteins"	603	protein-coding gene	gene with protein product		107730	"apolipoprotein B (including Ag(x) antigen)"				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.11361C>T	2.37:g.21228379G>A							p.P3787P	NM_000384.2	NP_000375.2	P04114	APOB_HUMAN			26	11488	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		3787					O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Silent	SNP	ENST00000233242.1	37	c.11361C>T	CCDS1703.1																																																																																				0.398	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1			94	103	0	0	0	1	0	94	103					A	21228379	G	A	21228379	2	1	309	1	0	0	0	0	0	0	0	1	785	1103	39	2		2	APOB	2	21228379	Silent	SNP	G	TCGA-KK-A5A1-01A-11D-A29Q-08		21228379	221970994	20	15835											
EMX1	2016	broad.mit.edu	37	chr2	73145426	73145426	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agcccccgcactccttcttcGgcgcccagcaccgggaccct	5	6	9	21	4	1	0	0	0	1	0	3	1	2	1	6	2	2	2	6	2	0	2			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr2:73145426G>A	ENST00000258106.6	+	1	823	c.445G>A	c.(445-447)Ggc>Agc	p.G149S	EMX1_ENST00000394111.5_Intron	NM_004097.2	NP_004088.2	Q04741	EMX1_HUMAN	empty spiracles homeobox 1	116					brain morphogenesis (GO:0048854)|cerebral cortex neuron differentiation (GO:0021895)|cerebral cortex regionalization (GO:0021796)|in utero embryonic development (GO:0001701)|neuron projection extension (GO:1990138)|post-embryonic development (GO:0009791)|regulation of transcription, DNA-templated (GO:0006355)|response to drug (GO:0042493)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			cervix(1)|large_intestine(2)|lung(3)	6						CTCCTTCTTCGGCGCCCAGCA	0.706																																						ENST00000258106.6																			0				cervix(1)|large_intestine(2)|lung(3)	6						c.(445-447)Ggc>Agc		empty spiracles homeobox 1							7	8	8					2																	73145426		1813	3970	5783	SO:0001583	missense	2016					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:73145426G>A	X68879	CCDS1921.2	2p13.2	2011-06-20	2007-02-15		ENSG00000135638	ENSG00000135638		"Homeoboxes / ANTP class : NKL subclass"	3340	protein-coding gene	gene with protein product		600034	"empty spiracles homolog 1 (Drosophila)"			7959790	Standard	XM_005264203		Approved		uc002sin.1	Q04741	OTTHUMG00000129778	ENST00000258106.6:c.445G>A	2.37:g.73145426G>A	ENSP00000258106:p.Gly149Ser					EMX1_ENST00000394111.5_Intron	p.G149S	NM_004097.2	NP_004088.2	Q04741	EMX1_HUMAN			1	823	+			116					Q0D2P0|Q53T30|Q86XB0	Missense_Mutation	SNP	ENST00000258106.6	37	c.445G>A	CCDS1921.2	.	.	.	.	.	.	.	.	.	.	g	8.408	0.843399	0.16963	.	.	ENSG00000135638	ENST00000258106;ENST00000473732	D;D	0.91631	-2.88;-2.37	3.54	-0.577	0.11727	.	0.075463	0.52532	N	0.000061	T	0.81683	0.4874	N	0.26042	0.785	0.80722	D	1	B	0.13594	0.008	B	0.06405	0.002	T	0.65129	-0.6243	10	0.11794	T	0.64	-7.0403	7.9103	0.29787	0.4013:0.0:0.5987:0.0	.	116	Q04741	EMX1_HUMAN	S	149;27	ENSP00000258106:G149S;ENSP00000446992:G27S	ENSP00000258106:G149S	G	+	1	0	EMX1	72998934	1.000000	0.71417	0.998000	0.56505	0.954000	0.61252	2.959000	0.49153	-0.070000	0.12908	-0.370000	0.07254	GGC		0.706	EMX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251994.3			5	41	0	0	0	1	0	5	41					A	73145426	G	A	73145426	3	1	309	1	0	0	0	0	1	0	0	0	5107	1116	39	2	447	2	EMX1	2	73145426	Missense_Mutation	SNP	G	TCGA-KK-A5A1-01A-11D-A29Q-08	51917047	73145426	170053947	21	15836											
LASS6	253782	broad.mit.edu	37	chr2	169417809	169417809	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aatcaggagaagccaagcacGctgacgaggttctgtgagag	13	6	14	8	2	2	3	1	2	1	2	2	6	2	3	1	2	2	3	1	2	3	1	rs556558587		TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr2:169417809G>A	ENST00000305747.6	+	3	971	c.384G>A	c.(382-384)acG>acA	p.T128T	CERS6_ENST00000392687.4_Silent_p.T128T	NM_203463.2	NP_982288.1	Q6ZMG9	CERS6_HUMAN	ceramide synthase 6	128					ceramide biosynthetic process (GO:0046513)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sphingosine N-acyltransferase activity (GO:0050291)										AGCCAAGCACGCTGACGAGGT	0.448																																						ENST00000305747.6																			0											c.(382-384)acG>acA		ceramide synthase 6							138	131	133					2																	169417809		2203	4300	6503	SO:0001819	synonymous_variant	253782					endoplasmic reticulum membrane|integral to membrane|nuclear membrane	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sphingosine N-acyltransferase activity	g.chr2:169417809G>A	BX393696	CCDS2228.1, CCDS58734.1	2q31	2011-07-11	2011-07-08	2011-07-08	ENSG00000172292	ENSG00000172292		"Homeoboxes / CERS class"	23826	protein-coding gene	gene with protein product		615336	"LAG1 longevity assurance homolog 6 (S. cerevisiae)", "LAG1 homolog, ceramide synthase 6"	LASS6			Standard	NM_203463		Approved		uc002uec.2	Q6ZMG9	OTTHUMG00000132183	ENST00000305747.6:c.384G>A	2.37:g.169417809G>A						CERS6_ENST00000392687.4_Silent_p.T128T	p.T128T	NM_203463.2	NP_982288.1	Q6ZMG9	CERS6_HUMAN			3	971	+			128					Q32M63|Q8N617	Silent	SNP	ENST00000305747.6	37	c.384G>A	CCDS2228.1																																																																																				0.448	CERS6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255235.2	NM_203463		71	48	0	0	0	1	0	71	48					A	169417809	G	A	169417809	2	1	309	1	0	0	0	0	0	0	0	1	8643	1074	38	1		1	LASS6	2	169417809	Silent	SNP	G	TCGA-KK-A5A1-01A-11D-A29Q-08	96272383	169417809	73781564	22	15837											
CNTN6	27255	broad.mit.edu	37	chr3	1363509	1363510	+	Frame_Shift_Ins	INS	-	-	T																															ccttgcaaagggtcaactcaINSttttttatggtgagctaatt																										TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr3:1363509_1363510insT	ENST00000446702.2	+	8	1564_1565	c.937_938insT	c.(937-939)attfs	p.I313fs	CNTN6_ENST00000350110.2_Frame_Shift_Ins_p.I313fs|CNTN6_ENST00000539053.1_Frame_Shift_Ins_p.I241fs			Q9UQ52	CNTN6_HUMAN	contactin 6	313					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|central nervous system development (GO:0007417)|Notch signaling pathway (GO:0007219)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		all_cancers(2;0.000164)|all_epithelial(2;0.107)		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)		GGGTCAACTCATTTTTTATGGT	0.351																																						ENST00000446702.2																			0				breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90						c.(937-939)tttfs		contactin 6																																				SO:0001589	frameshift_variant	27255				axon guidance|cell adhesion|central nervous system development|Notch signaling pathway	anchored to membrane|plasma membrane		g.chr3:1363509_1363510insT	AB003592	CCDS2557.1	3p26-p25	2013-02-11			ENSG00000134115	ENSG00000134115		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	2176	protein-coding gene	gene with protein product	"neural adhesion molecule"	607220				9486763	Standard	NM_014461		Approved	NB-3	uc003bpa.3	Q9UQ52	OTTHUMG00000119030	ENST00000446702.2:c.943dupT	3.37:g.1363515_1363515dupT	ENSP00000407822:p.Ile313fs					CNTN6_ENST00000350110.2_Frame_Shift_Ins_p.F313fs|CNTN6_ENST00000539053.1_Frame_Shift_Ins_p.F241fs	p.F313fs			Q9UQ52	CNTN6_HUMAN		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)	8	1564_1565	+		all_cancers(2;0.000164)|all_epithelial(2;0.107)	313					Q2KHM2	Frame_Shift_Ins	INS	ENST00000446702.2	37	c.937_938insT	CCDS2557.1																																																																																				0.351	CNTN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239235.2	NM_014461		34	80						34	80	---	---	---	---	T	1363510	-	T	1363509	7	5	309	1	0	1	1	0	0	0	0	0	3645	217	8	0	963	0	CNTN6	3	1363509	Frame_Shift_Ins	INS	-	TCGA-KK-A5A1-01A-11D-A29Q-08		1363509	196658921	23	15838											
ITPR1	3708	broad.mit.edu	37	chr3	4808388	4808388	+	Frame_Shift_Del	DEL	A	A	-																															acagggatgccccatcacggAaaaaaggtaaatgttcctca																										TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr3:4808388delA	ENST00000443694.2	+	42	5674	c.5674delA	c.(5674-5676)aaafs	p.K1893fs	ITPR1_ENST00000544951.1_Intron|ITPR1_ENST00000302640.8_Frame_Shift_Del_p.K1893fs|ITPR1_ENST00000357086.4_Frame_Shift_Del_p.K1860fs|ITPR1_ENST00000354582.6_Frame_Shift_Del_p.K1893fs|ITPR1_ENST00000456211.2_Frame_Shift_Del_p.K1845fs|ITPR1_ENST00000423119.2_Frame_Shift_Del_p.K1860fs			Q14643	ITPR1_HUMAN	inositol 1,4,5-trisphosphate receptor, type 1	1908					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|negative regulation of calcium-mediated signaling (GO:0050849)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|post-embryonic development (GO:0009791)|regulation of insulin secretion (GO:0050796)|release of sequestered calcium ion into cytosol (GO:0051209)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|voluntary musculoskeletal movement (GO:0050882)	calcineurin complex (GO:0005955)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear inner membrane (GO:0005637)|nucleolus (GO:0005730)|platelet dense granule membrane (GO:0031088)|platelet dense tubular network (GO:0031094)|platelet dense tubular network membrane (GO:0031095)|postsynaptic density (GO:0014069)|sarcoplasmic reticulum (GO:0016529)	calcium channel inhibitor activity (GO:0019855)|calcium ion transmembrane transporter activity (GO:0015085)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|intracellular ligand-gated calcium channel activity (GO:0005218)|phosphatidylinositol binding (GO:0035091)			NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)	Caffeine(DB00201)	CCCATCACGGAAAAAAGGTAA	0.428																																						ENST00000302640.8																			0				NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106						c.(5674-5676)aafs		inositol 1,4,5-trisphosphate receptor, type 1							63	61	61					3																	4808388		1928	4126	6054	SO:0001589	frameshift_variant	3708				activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding	g.chr3:4808388delA	D26070	CCDS46740.1, CCDS46740.2, CCDS54550.1, CCDS54551.1	3p26.1	2014-06-12	2011-04-28			ENSG00000150995		"Ion channels / Inositol triphosphate receptors"	6180	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 94"	147265	"spinocerebellar ataxia 15", "spinocerebellar ataxia 16", "spinocerebellar ataxia 29"	SCA15, SCA16, SCA29		7945203, 7500840, 17590087, 17932120, 22986007	Standard	NM_001099952		Approved	Insp3r1, IP3R1, ACV, PPP1R94	uc003bqc.3	Q14643		ENST00000443694.2:c.5674delA	3.37:g.4808388delA	ENSP00000401671:p.Lys1893fs					ITPR1_ENST00000357086.4_Frame_Shift_Del_p.K1860fs|ITPR1_ENST00000423119.2_Frame_Shift_Del_p.K1860fs|ITPR1_ENST00000544951.1_Intron|ITPR1_ENST00000354582.6_Frame_Shift_Del_p.K1893fs|ITPR1_ENST00000456211.2_Frame_Shift_Del_p.K1845fs|ITPR1_ENST00000443694.2_Frame_Shift_Del_p.K1893fs	p.K1893fs	NM_001168272.1	NP_001161744.1	Q14643	ITPR1_HUMAN		Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)	44	6024	+			1908					E7EPX7|E9PDE9|Q14660|Q99897	Frame_Shift_Del	DEL	ENST00000443694.2	37	c.5674delA	CCDS54551.1																																																																																				0.428	ITPR1-004	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337982.3	NM_002222		7	35						7	35	---	---	---	---	-	4808388	A	-	4808388	7	5	309	1	0	1	0	1	0	0	0	0	7920	247	9	0	5889	0	ITPR1	3	4808388	Frame_Shift_Del	DEL	A	TCGA-KK-A5A1-01A-11D-A29Q-08	3444879	4808388	193214042	24	15839											
GPR156	165829	broad.mit.edu	37	chr3	119962486	119962486	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	atgagaaactgggctgcttaCctgttcttcctgcagtgaat	9	13	10	9	0	1	2	0	2	1	1	2	3	2	2	2	1	4	4	2	1	3	3			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr3:119962486C>T	ENST00000464295.1	-	3	679		c.e3+1		GPR156_ENST00000461057.1_Splice_Site|GPR156_ENST00000315843.3_Splice_Site			Q8NFN8	GP156_HUMAN	G protein-coupled receptor 156							integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled GABA receptor activity (GO:0004965)			breast(2)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|prostate(1)|skin(1)	32				GBM - Glioblastoma multiforme(114;0.19)		GGGCTGCTTACCTGTTCTTCC	0.433																																						ENST00000464295.1																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|prostate(1)|skin(1)	32						c.e3+1		G protein-coupled receptor 156							113	102	106					3																	119962486		2203	4300	6503	SO:0001630	splice_region_variant	165829					integral to membrane|plasma membrane	G-protein coupled receptor activity|GABA-B receptor activity	g.chr3:119962486C>T	AF488739	CCDS2997.1, CCDS54629.1	3q13.33	2012-08-21			ENSG00000175697	ENSG00000175697		"GPCR / Class C : Orphans"	20844	protein-coding gene	gene with protein product		610464				12591167	Standard	NM_153002		Approved	PGR28, GABABL	uc011bjf.2	Q8NFN8	OTTHUMG00000159406	ENST00000464295.1:c.233+1G>A	3.37:g.119962486C>T						GPR156_ENST00000461057.1_Splice_Site|GPR156_ENST00000315843.3_Splice_Site				Q8NFN8	GP156_HUMAN		GBM - Glioblastoma multiforme(114;0.19)	3	679	-								B7ZL66|E9PFZ4|Q14CM1|Q86SN6	Splice_Site	SNP	ENST00000464295.1	37		CCDS2997.1	.	.	.	.	.	.	.	.	.	.	C	18.25	3.583330	0.65992	.	.	ENSG00000175697	ENST00000464295;ENST00000315843;ENST00000461057	.	.	.	5.2	5.2	0.72013	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.1778	0.65555	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	GPR156	121445176	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.539000	0.60657	2.719000	0.93026	0.650000	0.86243	.		0.433	GPR156-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000355139.1	NM_153002	Intron	56	79	0	0	0	1	0	56	79					T	119962486	C	T	119962486	5	4	309	1	0	0	0	0	0	0	1	0	6661	521	18	3	2242	3	GPR156	3	119962486	Splice_Site	SNP	C	TCGA-KK-A5A1-01A-11D-A29Q-08	115154098	119962486	78059944	25	15840											
ACPL2	92370	broad.mit.edu	37	chr3	141011306	141011306	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aagaagatttatttcaggcaCcagccaagtgcgctgttctg	11	11	10	9	1	2	2	1	0	1	2	2	2	2	2	2	1	2	3	2	1	4	4			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr3:141011306C>T	ENST00000286353.4	+	6	839	c.702C>T	c.(700-702)caC>caT	p.H234H	ACPL2_ENST00000393007.1_Silent_p.H218H|ACPL2_ENST00000393010.2_Silent_p.H234H|ACPL2_ENST00000508812.1_Silent_p.H225H|RP11-438D8.2_ENST00000507698.1_RNA|ACPL2_ENST00000502783.1_Silent_p.H196H|ACPL2_ENST00000504264.1_Silent_p.H217H	NM_001037172.1|NM_001282728.1	NP_001032249.1|NP_001269657.1	Q8TE99	PXYP1_HUMAN		234						extracellular region (GO:0005576)	acid phosphatase activity (GO:0003993)			endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|prostate(2)|skin(2)	23						ATTTCAGGCACCAGCCAAGTG	0.488																																						ENST00000508812.1																			0				endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|prostate(2)|skin(2)	23						c.(673-675)caC>caT		acid phosphatase-like 2							55	58	57					3																	141011306		2203	4300	6503	SO:0001819	synonymous_variant	92370					extracellular region	acid phosphatase activity	g.chr3:141011306C>T																												ENST00000286353.4:c.702C>T	3.37:g.141011306C>T						ACPL2_ENST00000393010.2_Silent_p.H234H|ACPL2_ENST00000504264.1_Silent_p.H217H|ACPL2_ENST00000502783.1_Silent_p.H196H|ACPL2_ENST00000286353.4_Silent_p.H234H|RP11-438D8.2_ENST00000507698.1_RNA|ACPL2_ENST00000393007.1_Silent_p.H218H	p.H225H			Q8TE99	ACPL2_HUMAN			5	2582	+			234					D3DNF5|Q49AJ2|W0TR04	Silent	SNP	ENST00000286353.4	37	c.675C>T	CCDS3116.1																																																																																				0.488	ACPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359533.2			5	60	0	0	0	1	0	5	60					T	141011306	C	T	141011306	2	4	309	1	0	0	0	0	0	0	0	1	166	506	18	3		3	ACPL2	3	141011306	Silent	SNP	C	TCGA-KK-A5A1-01A-11D-A29Q-08	21048820	141011306	57011124	26	15841											
GOLIM4	27333	broad.mit.edu	37	chr3	167747660	167747660	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acctgctgctgctgctgttcCtgctgccgtagtaagtgccc	4	12	11	14	1	0	0	0	0	0	0	1	0	1	0	4	0	7	8	4	0	2	3			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr3:167747660C>G	ENST00000470487.1	-	10	2030	c.1341G>C	c.(1339-1341)caG>caC	p.Q447H	GOLIM4_ENST00000309027.4_Missense_Mutation_p.Q419H	NM_014498.3	NP_055313.1	O00461	GOLI4_HUMAN	golgi integral membrane protein 4	447	Gln-rich.|Glu-rich.				transport (GO:0006810)	cis-Golgi network (GO:0005801)|endocytic vesicle (GO:0030139)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(5)|endometrium(2)|large_intestine(8)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						gctgctgttcctgctgccgta	0.647																																						ENST00000470487.1																			0				breast(5)|endometrium(2)|large_intestine(8)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						c.(1339-1341)caG>caC		golgi integral membrane protein 4							41	39	40					3																	167747660		2203	4300	6503	SO:0001583	missense	27333				transport	cis-Golgi network|endocytic vesicle|endosome membrane|Golgi cisterna membrane|Golgi lumen|integral to membrane|nucleus		g.chr3:167747660C>G	U55853	CCDS3204.1	3q26	2007-07-30	2007-07-30	2007-07-30	ENSG00000173905	ENSG00000173905			15448	protein-coding gene	gene with protein product		606805	"golgi phosphoprotein 4"	GOLPH4		9201717, 15004235	Standard	NM_014498		Approved	GPP130, GIMPC, P138	uc003ffe.2	O00461	OTTHUMG00000158554	ENST00000470487.1:c.1341G>C	3.37:g.167747660C>G	ENSP00000417354:p.Gln447His					GOLIM4_ENST00000309027.4_Missense_Mutation_p.Q419H	p.Q447H	NM_014498.3	NP_055313.1	O00461	GOLI4_HUMAN			10	2030	-			447			Gln-rich.|Glu-rich.			Missense_Mutation	SNP	ENST00000470487.1	37	c.1341G>C	CCDS3204.1	.	.	.	.	.	.	.	.	.	.	C	10.51	1.371699	0.24857	.	.	ENSG00000173905	ENST00000470487;ENST00000309027	.	.	.	5.23	4.35	0.52113	.	0.369693	0.31246	N	0.007981	T	0.47002	0.1422	L	0.39397	1.21	0.37543	D	0.918402	B;B	0.16802	0.019;0.019	B;B	0.15870	0.014;0.014	T	0.49523	-0.8931	9	0.49607	T	0.09	-2.9875	10.0583	0.42259	0.0:0.7722:0.1495:0.0783	.	419;447	F8W785;O00461	.;GOLI4_HUMAN	H	447;419	.	ENSP00000309893:Q419H	Q	-	3	2	GOLIM4	169230354	0.449000	0.25689	0.996000	0.52242	0.244000	0.25665	-0.273000	0.08548	1.226000	0.43582	0.555000	0.69702	CAG		0.647	GOLIM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351278.2			19	92	0	0	0	1	0	19	92					G	167747660	C	G	167747660	3	3	309	1	0	0	0	0	1	0	0	0	6566	680	24	5	777	5	GOLIM4	3	167747660	Missense_Mutation	SNP	C	TCGA-KK-A5A1-01A-11D-A29Q-08	26736354	167747660	30274770	27	15842											
TNIK	23043	broad.mit.edu	37	chr3	170843819	170843819	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctggcgtggcatctccacgCggtgggaggtcacgttcaga	6	9	15	11	4	4	1	2	0	2	1	5	2	4	2	1	5	0	2	1	5	0	1			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr3:170843819C>T	ENST00000436636.2	-	17	2239	c.1895G>A	c.(1894-1896)cGc>cAc	p.R632H	TNIK_ENST00000470834.1_Missense_Mutation_p.R603H|TNIK_ENST00000460047.1_Missense_Mutation_p.R577H|TNIK_ENST00000538048.1_Missense_Mutation_p.R577H|TNIK_ENST00000488470.1_Missense_Mutation_p.R577H|TNIK_ENST00000341852.6_Missense_Mutation_p.R548H|TNIK_ENST00000357327.5_Missense_Mutation_p.R603H|TNIK_ENST00000369326.5_Missense_Mutation_p.R603H|TNIK_ENST00000475336.1_Missense_Mutation_p.R548H|TNIK_ENST00000284483.8_Missense_Mutation_p.R632H	NM_015028.2	NP_055843.1	Q9UKE5	TNIK_HUMAN	TRAF2 and NCK interacting kinase	632	Mediates interaction with NEDD4.				actin cytoskeleton reorganization (GO:0031532)|activation of JNKK activity (GO:0007256)|cytoskeleton organization (GO:0007010)|intracellular signal transduction (GO:0035556)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of dendrite morphogenesis (GO:0048814)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(22)|ovary(5)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)	62	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)			CATCTCCACGCGGTGGGAGGT	0.577																																						ENST00000436636.2																			0				cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(22)|ovary(5)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)	62						c.(1894-1896)cGc>cAc		TRAF2 and NCK interacting kinase							78	80	80					3																	170843819		1917	4125	6042	SO:0001583	missense	23043				actin cytoskeleton reorganization|activation of JNKK activity|protein autophosphorylation|regulation of dendrite morphogenesis|Wnt receptor signaling pathway	cytoskeleton|nucleus|recycling endosome	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chr3:170843819C>T	AF172264	CCDS46956.1, CCDS54673.1, CCDS54674.1, CCDS54675.1, CCDS54676.1, CCDS54677.1, CCDS54678.1, CCDS54679.1	3q26.31	2008-01-23			ENSG00000154310	ENSG00000154310			30765	protein-coding gene	gene with protein product		610005				9628581, 10521462	Standard	NR_027767		Approved	KIAA0551	uc003fhh.2	Q9UKE5	OTTHUMG00000159036	ENST00000436636.2:c.1895G>A	3.37:g.170843819C>T	ENSP00000399511:p.Arg632His					TNIK_ENST00000475336.1_Missense_Mutation_p.R548H|TNIK_ENST00000470834.1_Missense_Mutation_p.R603H|TNIK_ENST00000357327.5_Missense_Mutation_p.R603H|TNIK_ENST00000341852.6_Missense_Mutation_p.R548H|TNIK_ENST00000284483.8_Missense_Mutation_p.R632H|TNIK_ENST00000369326.5_Missense_Mutation_p.R603H|TNIK_ENST00000460047.1_Missense_Mutation_p.R577H|TNIK_ENST00000538048.1_Missense_Mutation_p.R577H|TNIK_ENST00000488470.1_Missense_Mutation_p.R577H	p.R632H	NM_015028.2	NP_055843.1	Q9UKE5	TNIK_HUMAN	LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		17	2239	-	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)		632			Mediates interaction with NEDD4.		A7E2A3|A8K4U1|D3DNQ6|O60298|Q8WUY7|Q9UKD8|Q9UKD9|Q9UKE0|Q9UKE1|Q9UKE2|Q9UKE3|Q9UKE4	Missense_Mutation	SNP	ENST00000436636.2	37	c.1895G>A	CCDS46956.1	.	.	.	.	.	.	.	.	.	.	C	29.8	5.035619	0.93630	.	.	ENSG00000154310	ENST00000436636;ENST00000369326;ENST00000538048;ENST00000341852;ENST00000284483;ENST00000475336;ENST00000357327;ENST00000460047;ENST00000488470;ENST00000470834	T;T;T;T;T;T;T;T;T;T	0.74737	0.87;0.87;-0.83;-0.85;0.87;-0.87;0.87;-0.83;-0.83;0.87	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	D	0.84306	0.5443	L	0.55990	1.75	0.80722	D	1	D;P;D;D;P;P;D;P	0.76494	0.999;0.763;0.999;0.999;0.943;0.943;0.999;0.906	D;B;D;D;P;B;D;B	0.77004	0.989;0.329;0.989;0.989;0.629;0.445;0.989;0.425	T	0.82808	-0.0274	10	0.46703	T	0.11	.	20.1253	0.97977	0.0:1.0:0.0:0.0	.	548;603;577;548;632;603;577;632	Q9UKE5-8;Q9UKE5-6;Q9UKE5-7;Q9UKE5-5;Q9UKE5-4;Q9UKE5-2;Q9UKE5-3;Q9UKE5	.;.;.;.;.;.;.;TNIK_HUMAN	H	632;603;577;548;632;548;603;577;577;603	ENSP00000399511:R632H;ENSP00000358332:R603H;ENSP00000443278:R577H;ENSP00000345352:R548H;ENSP00000284483:R632H;ENSP00000418156:R548H;ENSP00000349880:R603H;ENSP00000418916:R577H;ENSP00000418378:R577H;ENSP00000419990:R603H	ENSP00000284483:R632H	R	-	2	0	TNIK	172326513	1.000000	0.71417	0.971000	0.41717	0.829000	0.46940	7.323000	0.79105	2.832000	0.97577	0.655000	0.94253	CGC		0.577	TNIK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000352973.2	XM_039796		40	63	0	0	0	1	0	40	63					T	170843819	C	T	170843819	3	4	309	1	0	0	0	0	1	0	0	0	16310	768	27	1	2255	1	TNIK	3	170843819	Missense_Mutation	SNP	C	TCGA-KK-A5A1-01A-11D-A29Q-08	3096159	170843819	27178611	28	15843											
PPARGC1A	10891	broad.mit.edu	37	chr4	23816063	23816063	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	acaactcggattgctccggcCctttcttggtggagttattg	6	14	11	10	2	1	0	0	0	1	0	3	2	2	2	2	4	2	2	2	4	2	5			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr4:23816063C>T	ENST00000264867.2	-	8	1162	c.1043G>A	c.(1042-1044)gGg>gAg	p.G348E	PPARGC1A_ENST00000509702.1_5'UTR	NM_013261.3	NP_037393.1	Q9UBK2	PRGC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator 1 alpha	348					androgen metabolic process (GO:0008209)|androgen receptor signaling pathway (GO:0030521)|brown fat cell differentiation (GO:0050873)|cellular glucose homeostasis (GO:0001678)|cellular respiration (GO:0045333)|cellular response to fatty acid (GO:0071398)|cellular response to hypoxia (GO:0071456)|cellular response to nitrite (GO:0071250)|cellular response to oxidative stress (GO:0034599)|cellular response to thyroid hormone stimulus (GO:0097067)|cellular response to tumor necrosis factor (GO:0071356)|circadian regulation of gene expression (GO:0032922)|digestion (GO:0007586)|fatty acid oxidation (GO:0019395)|flavone metabolic process (GO:0051552)|galactose metabolic process (GO:0006012)|gluconeogenesis (GO:0006094)|mitochondrion organization (GO:0007005)|mRNA processing (GO:0006397)|negative regulation of glycolytic process (GO:0045820)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of neuron death (GO:1901215)|negative regulation of receptor activity (GO:2000272)|positive regulation of ATP biosynthetic process (GO:2001171)|positive regulation of cellular respiration (GO:1901857)|positive regulation of energy homeostasis (GO:2000507)|positive regulation of fatty acid oxidation (GO:0046321)|positive regulation of gluconeogenesis (GO:0045722)|positive regulation of histone acetylation (GO:0035066)|positive regulation of mitochondrial DNA metabolic process (GO:1901860)|positive regulation of mitochondrion organization (GO:0010822)|positive regulation of muscle tissue development (GO:1901863)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein stabilization (GO:0050821)|regulation of circadian rhythm (GO:0042752)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of transcription, DNA-templated (GO:0006355)|respiratory electron transport chain (GO:0022904)|response to cold (GO:0009409)|response to epinephrine (GO:0071871)|response to leucine (GO:0043201)|response to muscle activity (GO:0014850)|response to norepinephrine (GO:0071873)|response to starvation (GO:0042594)|response to statin (GO:0036273)|RNA splicing (GO:0008380)|temperature homeostasis (GO:0001659)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytosol (GO:0005829)|DNA-directed RNA polymerase II, core complex (GO:0005665)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin DNA binding (GO:0031490)|DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)|RNA polymerase II transcription cofactor activity (GO:0001104)|sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|liver(1)|lung(24)|ovary(3)|skin(5)	51		Breast(46;0.0503)				TTGCTCCGGCCCTTTCTTGGT	0.532																																					Esophageal Squamous(29;694 744 13796 34866 44181)	ENST00000264867.2																			0				central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|liver(1)|lung(24)|ovary(3)|skin(5)	51						c.(1042-1044)gGg>gAg		peroxisome proliferator-activated receptor gamma, coactivator 1 alpha							138	140	139					4																	23816063		2203	4300	6503	SO:0001583	missense	10891				androgen receptor signaling pathway|brown fat cell differentiation|cellular glucose homeostasis|digestion|fatty acid oxidation|gluconeogenesis|mitochondrion organization|mRNA processing|neuron death|positive regulation of fatty acid oxidation|positive regulation of gluconeogenesis|positive regulation of histone acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|protein complex assembly|protein stabilization|response to muscle activity|response to starvation|RNA splicing|temperature homeostasis|transcription initiation from RNA polymerase II promoter	DNA-directed RNA polymerase II, core complex	androgen receptor binding|DNA binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|RNA binding|RNA polymerase II transcription cofactor activity|transcription factor binding	g.chr4:23816063C>T	AF106698	CCDS3429.1	4p15.1	2013-02-12	2006-10-17	2004-02-04	ENSG00000109819	ENSG00000109819		"RNA binding motif (RRM) containing"	9237	protein-coding gene	gene with protein product		604517	"peroxisome proliferative activated receptor, gamma, coactivator 1", "peroxisome proliferative activated receptor, gamma, coactivator 1, alpha"	PPARGC1		10585775	Standard	NM_013261		Approved	PGC1, PGC1A	uc003gqs.3	Q9UBK2	OTTHUMG00000097747	ENST00000264867.2:c.1043G>A	4.37:g.23816063C>T	ENSP00000264867:p.Gly348Glu					PPARGC1A_ENST00000509702.1_5'UTR	p.G348E	NM_013261.3	NP_037393.1	Q9UBK2	PRGC1_HUMAN			8	1162	-		Breast(46;0.0503)	348					B7Z406|G8DM16|I3RTT5|I3RTT6|I3RTT7|I3RTT8|I3RTT9|Q3LIG1|Q4W5M7|Q9UN32	Missense_Mutation	SNP	ENST00000264867.2	37	c.1043G>A	CCDS3429.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.127635	0.77549	.	.	ENSG00000109819	ENST00000264867	T	0.22743	1.94	6.06	6.06	0.98353	.	0.088347	0.85682	D	0.000000	T	0.49575	0.1565	M	0.79926	2.475	0.80722	D	1	D	0.65815	0.995	P	0.62560	0.904	T	0.37267	-0.9713	10	0.45353	T	0.12	-10.5368	20.6397	0.99537	0.0:1.0:0.0:0.0	.	348	Q9UBK2	PRGC1_HUMAN	E	348	ENSP00000264867:G348E	ENSP00000264867:G348E	G	-	2	0	PPARGC1A	23425161	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.467000	0.60155	2.880000	0.98712	0.650000	0.86243	GGG		0.532	PPARGC1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214976.1	NM_013261		26	53	0	0	0	1	0	26	53					T	23816063	C	T	23816063	3	4	309	1	0	0	0	0	1	0	0	0	12300	623	22	3	1377	3	PPARGC1A	4	23816063	Missense_Mutation	SNP	C	TCGA-KK-A5A1-01A-11D-A29Q-08		23816063	167338213	29	15844											
CSN2	1447	broad.mit.edu	37	chr4	70823024	70823024	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atgaactggggcaagtggctGagtcacagggtagatctggt	10	9	16	6	0	2	3	1	2	1	1	2	3	2	3	0	5	1	3	0	5	3	1			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr4:70823024G>A	ENST00000353151.3	-	5	654	c.643C>T	c.(643-645)Cag>Tag	p.Q215*		NM_001891.2	NP_001882.1	P61201	CSN2_HUMAN	casein beta	0					cell proliferation (GO:0008283)|cullin deneddylation (GO:0010388)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron differentiation (GO:0030182)|signal transduction (GO:0007165)|skeletal muscle cell differentiation (GO:0035914)|transcription from RNA polymerase II promoter (GO:0006366)	COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)	signal transducer activity (GO:0004871)|transcription corepressor activity (GO:0003714)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|skin(2)	12						GCAAGTGGCTGAGTCACAGGG	0.463																																						ENST00000353151.3																			0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|skin(2)	12						c.(643-645)Cag>Tag		casein beta							78	74	76					4																	70823024		2203	4300	6503	SO:0001587	stop_gained	1447				calcium ion transport	extracellular region	calcium ion binding|enzyme inhibitor activity|transporter activity	g.chr4:70823024G>A	X17070	CCDS3532.1	4q21.1	2008-02-05			ENSG00000135222	ENSG00000135222			2447	protein-coding gene	gene with protein product		115460		CASB		1577486	Standard	NM_001891		Approved		uc003hes.4	P05814	OTTHUMG00000129409	ENST00000353151.3:c.643C>T	4.37:g.70823024G>A	ENSP00000341030:p.Gln215*						p.Q215*	NM_001891.2	NP_001882.1	P05814	CASB_HUMAN			5	654	-			215	TQPLAPVHN -> PEPSTTZABH (in Ref. 6; AA sequence).				O88950|Q15647|Q6FGP4|Q9BY54|Q9R249|Q9UNI2|Q9UNQ5	Nonsense_Mutation	SNP	ENST00000353151.3	37	c.643C>T	CCDS3532.1	.	.	.	.	.	.	.	.	.	.	G	13.57	2.276478	0.40294	.	.	ENSG00000135222	ENST00000353151	.	.	.	3.89	2.06	0.26882	.	1.631500	0.03675	N	0.244716	.	.	.	.	.	.	0.35338	A	0.786268	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	2.1141	8.6331	0.33930	0.0:0.0:0.5827:0.4173	.	.	.	.	X	215	.	ENSP00000341030:Q215X	Q	-	1	0	CSN2	70857613	0.009000	0.17119	0.018000	0.16275	0.044000	0.14063	0.574000	0.23714	0.561000	0.29186	0.555000	0.69702	CAG		0.463	CSN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251565.1			4	54	0	0	0	1	0	4	54					A	70823024	G	A	70823024	4	1	309	1	0	0	0	0	0	1	0	0	3948	1299	45	3	45	3	CSN2	4	70823024	Nonsense_Mutation	SNP	G	TCGA-KK-A5A1-01A-11D-A29Q-08	47006961	70823024	120331252	30	15845											
ARHGAP10	79658	broad.mit.edu	37	chr4	148786095	148786095	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caagaaagaaagaagtttgaGtttgtggaacctgtgagtat	15	11	12	3	0	0	5	0	2	0	3	0	6	0	6	1	1	1	3	1	1	6	3			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr4:148786095G>T	ENST00000336498.3	+	6	824	c.585G>T	c.(583-585)gaG>gaT	p.E195D		NM_024605.3	NP_078881.3	Q5T5U3	RHG21_HUMAN	Rho GTPase activating protein 10	0					establishment of Golgi localization (GO:0051683)|Golgi organization (GO:0007030)|maintenance of Golgi location (GO:0051684)|organelle transport along microtubule (GO:0072384)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)			autonomic_ganglia(2)|endometrium(5)|kidney(2)|large_intestine(4)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	33	all_hematologic(180;0.151)	Renal(17;0.0166)		GBM - Glioblastoma multiforme(119;0.0423)		AGAAGTTTGAGTTTGTGGAAC	0.378																																						ENST00000336498.3																			0				autonomic_ganglia(2)|endometrium(5)|kidney(2)|large_intestine(4)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	33						c.(583-585)gaG>gaT		Rho GTPase activating protein 10							115	116	116					4																	148786095		2203	4300	6503	SO:0001583	missense	79658				apoptosis|filopodium assembly|regulation of apoptosis|small GTPase mediated signal transduction	cytosol|perinuclear region of cytoplasm|plasma membrane	cytoskeletal adaptor activity|SH3 domain binding	g.chr4:148786095G>T	BC047914	CCDS34075.1	4q31.23	2013-09-20			ENSG00000071205	ENSG00000071205		"Rho GTPase activating proteins"	26099	protein-coding gene	gene with protein product		609746				8288572	Standard	NM_024605		Approved	FLJ20896, FLJ41791, GRAF2	uc003ilf.3	A1A4S6	OTTHUMG00000161460	ENST00000336498.3:c.585G>T	4.37:g.148786095G>T	ENSP00000336923:p.Glu195Asp						p.E195D	NM_024605.3	NP_078881.3	A1A4S6	RHG10_HUMAN		GBM - Glioblastoma multiforme(119;0.0423)	6	824	+	all_hematologic(180;0.151)	Renal(17;0.0166)	195			BAR.		Q0VF98|Q7Z3P7|Q8N3A2|Q8NI19|Q8TBV5|Q9P2C3	Missense_Mutation	SNP	ENST00000336498.3	37	c.585G>T	CCDS34075.1	.	.	.	.	.	.	.	.	.	.	G	17.40	3.380593	0.61845	.	.	ENSG00000071205	ENST00000336498	T	0.05649	3.41	5.71	2.08	0.27032	IRSp53/MIM homology domain (IMD) (1);	0.000000	0.85682	D	0.000000	T	0.16041	0.0386	L	0.55017	1.72	0.80722	D	1	D	0.76494	0.999	D	0.65874	0.939	T	0.00140	-1.2000	10	0.59425	D	0.04	.	10.0731	0.42345	0.2805:0.0:0.7195:0.0	.	195	A1A4S6	RHG10_HUMAN	D	195	ENSP00000336923:E195D	ENSP00000336923:E195D	E	+	3	2	ARHGAP10	149005545	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	0.723000	0.25939	0.076000	0.16826	0.655000	0.94253	GAG		0.378	ARHGAP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365005.1	NM_024605		14	41	1	0	3.27435e-08	1	3.89165e-08	14	41					T	148786095	G	T	148786095	3	4	309	1	0	0	0	0	1	0	0	0	862	1020	36	5	607	5	ARHGAP10	4	148786095	Missense_Mutation	SNP	G	TCGA-KK-A5A1-01A-11D-A29Q-08	77963071	148786095	42368181	31	15846											
GRIA2	2891	broad.mit.edu	37	chr4	158257856	158257856	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttttaatagtctctggtttTccttgggtgcctttatgcag	5	20	9	7	0	1	0	0	0	1	0	3	0	2	0	2	2	2	2	2	2	3	9			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr4:158257856T>A	ENST00000264426.9	+	11	2080	c.1801T>A	c.(1801-1803)Tcc>Acc	p.S601T	GRIA2_ENST00000296526.7_Missense_Mutation_p.S601T|GRIA2_ENST00000507898.1_Missense_Mutation_p.S554T|GRIA2_ENST00000449365.1_Missense_Mutation_p.S554T|GRIA2_ENST00000393815.2_Missense_Mutation_p.S554T	NM_001083619.1	NP_001077088	P42262	GRIA2_HUMAN	glutamate receptor, ionotropic, AMPA 2	601					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)|ionotropic glutamate receptor activity (GO:0004970)			NS(1)|breast(2)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(2)|lung(32)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	79	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0294)	Amobarbital(DB01351)|Aprobarbital(DB01352)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Methylphenobarbital(DB00849)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Primidone(DB00794)|Quinidine barbiturate(DB01346)|Secobarbital(DB00418)|Talbutal(DB00306)|Thiopental(DB00599)	TCTCTGGTTTTCCTTGGGTGC	0.428																																						ENST00000296526.7																			0				NS(1)|breast(2)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(2)|lung(32)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	79						c.(1801-1803)Tcc>Acc		glutamate receptor, ionotropic, AMPA 2	L-Glutamic Acid(DB00142)						132	135	134					4																	158257856		2203	4300	6503	SO:0001583	missense	2891				synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|endoplasmic reticulum membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity	g.chr4:158257856T>A		CCDS3797.1, CCDS43274.1, CCDS43275.1	4q32.1	2012-08-29			ENSG00000120251	ENSG00000120251		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4572	protein-coding gene	gene with protein product		138247		GLUR2		1311100	Standard	NM_001083619		Approved	GluA2, GLURB	uc003ipl.4	P42262	OTTHUMG00000133836	ENST00000264426.9:c.1801T>A	4.37:g.158257856T>A	ENSP00000264426:p.Ser601Thr					GRIA2_ENST00000449365.1_Missense_Mutation_p.S554T|GRIA2_ENST00000393815.2_Missense_Mutation_p.S554T|GRIA2_ENST00000507898.1_Missense_Mutation_p.S554T|GRIA2_ENST00000264426.9_Missense_Mutation_p.S601T	p.S601T	NM_000826.3	NP_000817.2	P42262	GRIA2_HUMAN		COAD - Colon adenocarcinoma(41;0.0294)	11	2126	+	all_hematologic(180;0.24)	Renal(120;0.0458)	601					A8MT92|I6L997|Q96FP6	Missense_Mutation	SNP	ENST00000264426.9	37	c.1801T>A	CCDS43274.1	.	.	.	.	.	.	.	.	.	.	T	22.6	4.314496	0.81358	.	.	ENSG00000120251	ENST00000507898;ENST00000393815;ENST00000296526;ENST00000264426;ENST00000449365	T;T;T;T;T	0.26810	1.71;1.71;1.71;1.71;1.71	5.66	5.66	0.87406	Ionotropic glutamate receptor (2);	0.000000	0.85682	D	0.000000	T	0.33673	0.0871	N	0.12527	0.23	0.80722	D	1	D;D;D	0.71674	0.96;0.998;0.985	P;D;D	0.83275	0.747;0.996;0.977	T	0.26573	-1.0099	10	0.39692	T	0.17	.	16.1819	0.81915	0.0:0.0:0.0:1.0	.	601;601;554	P42262;P42262-2;A8MT92	GRIA2_HUMAN;.;.	T	554;554;601;601;554	ENSP00000426845:S554T;ENSP00000377403:S554T;ENSP00000296526:S601T;ENSP00000264426:S601T;ENSP00000389837:S554T	ENSP00000264426:S601T	S	+	1	0	GRIA2	158477306	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.997000	0.88414	2.279000	0.76181	0.533000	0.62120	TCC		0.428	GRIA2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000258367.2			22	137	0	0	0	1	0	22	137					A	158257856	T	A	158257856	3	1	309	1	0	0	0	0	1	0	0	0	6768	1783	62	5	1843	5	GRIA2	4	158257856	Missense_Mutation	SNP	T	TCGA-KK-A5A1-01A-11D-A29Q-08	9471761	158257856	32896420	32	15847											
ADAM29	11086	broad.mit.edu	37	chr4	175898787	175898788	+	Frame_Shift_Ins	INS	-	-	A																															tgtaaaaaaagtaaaccaatINSaaaaaagcagcaagatgttc																										TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr4:175898787_175898788insA	ENST00000359240.3	+	5	2781_2782	c.2111_2112insA	c.(2110-2115)ataaaafs	p.IK704fs	ADAM29_ENST00000404450.4_Frame_Shift_Ins_p.IK704fs|ADAM29_ENST00000445694.1_Frame_Shift_Ins_p.IK704fs|RP13-577H12.2_ENST00000507525.1_RNA|ADAM29_ENST00000514159.1_Frame_Shift_Ins_p.IK704fs	NM_001278125.1|NM_014269.4	NP_001265054.1|NP_055084.3	Q9UKF5	ADA29_HUMAN	ADAM metallopeptidase domain 29	704					spermatogenesis (GO:0007283)	integral component of plasma membrane (GO:0005887)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)		AGTAAACCAATAAAAAAGCAGC	0.342																																					Ovarian(140;1727 1835 21805 25838 41440)	ENST00000359240.3																			0				NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93						c.(2110-2112)aaafs		ADAM metallopeptidase domain 29																																				SO:0001589	frameshift_variant	11086				proteolysis|spermatogenesis	integral to plasma membrane	metalloendopeptidase activity|zinc ion binding	g.chr4:175898787_175898788insA	AF171929	CCDS3823.1	4q34.1	2012-05-16	2005-08-18		ENSG00000168594	ENSG00000168594		"ADAM metallopeptidase domain containing"	207	protein-coding gene	gene with protein product	"cancer/testis antigen 73"	604778	"a disintegrin and metalloproteinase domain 29"			10644455	Standard	NM_014269		Approved	svph1, CT73	uc031shw.1	Q9UKF5	OTTHUMG00000160764	ENST00000359240.3:c.2117dupA	4.37:g.175898793_175898793dupA	ENSP00000352177:p.Ile704fs					ADAM29_ENST00000404450.4_Frame_Shift_Ins_p.K704fs|ADAM29_ENST00000514159.1_Frame_Shift_Ins_p.K704fs|ADAM29_ENST00000445694.1_Frame_Shift_Ins_p.K704fs|RP13-577H12.2_ENST00000507525.1_RNA	p.K704fs	NM_001278125.1|NM_014269.4	NP_001265054.1|NP_055084.3	Q9UKF5	ADA29_HUMAN		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)	5	2781_2782	+		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)	704					Q4W5F3|Q9UHP1|Q9UKF3|Q9UKF4	Frame_Shift_Ins	INS	ENST00000359240.3	37	c.2111_2112insA	CCDS3823.1																																																																																				0.342	ADAM29-201	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding				8	53						8	53	---	---	---	---	A	175898788	-	A	175898787	7	5	309	1	0	1	1	0	0	0	0	0	247	1406	49	0	2113	0	ADAM29	4	175898787	Frame_Shift_Ins	INS	-	TCGA-KK-A5A1-01A-11D-A29Q-08	17640931	175898787	15255489	33	15848											
KLKB1	3818	broad.mit.edu	37	chr4	187157946	187157946	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgtacagcttgccatcgaGacatttataaaggagttgat	12	13	9	7	1	0	2	0	1	0	1	1	4	0	3	1	1	3	3	1	1	4	7			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr4:187157946G>T	ENST00000264690.6	+	5	527	c.340G>T	c.(340-342)Gac>Tac	p.D114Y	KLKB1_ENST00000513864.1_Missense_Mutation_p.D114Y	NM_000892.3	NP_000883.2	P03952	KLKB1_HUMAN	kallikrein B, plasma (Fletcher factor) 1	114	Apple 2. {ECO:0000255|PROSITE- ProRule:PRU00315}.				blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|Factor XII activation (GO:0002542)|fibrinolysis (GO:0042730)|plasminogen activation (GO:0031639)|positive regulation of fibrinolysis (GO:0051919)|proteolysis (GO:0006508)|zymogen activation (GO:0031638)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	40		all_cancers(14;1.55e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00664)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.29e-10)|BRCA - Breast invasive adenocarcinoma(30;3.8e-05)|GBM - Glioblastoma multiforme(59;0.000131)|STAD - Stomach adenocarcinoma(60;0.000292)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.168)		TTGCCATCGAGACATTTATAA	0.373																																						ENST00000264690.6																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	40						c.(340-342)Gac>Tac		kallikrein B, plasma (Fletcher factor) 1							131	130	130					4																	187157946		2203	4300	6503	SO:0001583	missense	3818				blood coagulation, intrinsic pathway|Factor XII activation|fibrinolysis|plasminogen activation|positive regulation of fibrinolysis	cytoplasm|extracellular space|plasma membrane	serine-type endopeptidase activity	g.chr4:187157946G>T	M13143	CCDS34120.1	4q35	2008-02-05			ENSG00000164344	ENSG00000164344		"Kallikreins"	6371	protein-coding gene	gene with protein product		229000		KLK3		9535413, 3521732	Standard	XM_005262987		Approved		uc003iyy.3	P03952	OTTHUMG00000150347	ENST00000264690.6:c.340G>T	4.37:g.187157946G>T	ENSP00000264690:p.Asp114Tyr					KLKB1_ENST00000513864.1_Missense_Mutation_p.D114Y	p.D114Y	NM_000892.3	NP_000883.2	P03952	KLKB1_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.29e-10)|BRCA - Breast invasive adenocarcinoma(30;3.8e-05)|GBM - Glioblastoma multiforme(59;0.000131)|STAD - Stomach adenocarcinoma(60;0.000292)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.168)	5	527	+		all_cancers(14;1.55e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00664)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)	114			Apple 2.		A6NH96|B2R8H9|Q17RE8|Q17RE9|Q4W5C3	Missense_Mutation	SNP	ENST00000264690.6	37	c.340G>T	CCDS34120.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.49|13.49	2.252320|2.252320	0.39797|0.39797	.|.	.|.	ENSG00000164344|ENSG00000164344	ENST00000428196;ENST00000264690;ENST00000446598;ENST00000414291;ENST00000513864;ENST00000418715|ENST00000511608	D;D;D;D;D|.	0.91740|.	-2.52;-2.52;-2.52;-2.9;-2.52|.	4.91|4.91	1.07|1.07	0.20283|0.20283	Apple domain (2);PAN-1 domain (1);Apple-like (1);|.	0.959198|.	0.08697|.	N|.	0.907057|.	T|T	0.56140|0.56140	0.1965|0.1965	M|M	0.80847|0.80847	2.515|2.515	0.09310|0.09310	N|N	1|1	D;D|.	0.59767|.	0.986;0.979|.	D;P|.	0.69824|.	0.966;0.837|.	T|T	0.49624|0.49624	-0.8920|-0.8920	10|5	0.87932|.	D|.	0|.	.|.	8.1878|8.1878	0.31350|0.31350	0.341:0.0:0.659:0.0|0.341:0.0:0.659:0.0	.|.	76;114|.	E7EQA8;P03952|.	.;KLKB1_HUMAN|.	Y|D	114;114;76;76;114;76|161	ENSP00000412366:D114Y;ENSP00000264690:D114Y;ENSP00000415563:D76Y;ENSP00000392231:D76Y;ENSP00000424469:D114Y|.	ENSP00000264690:D114Y|.	D|E	+|+	1|3	0|2	KLKB1|KLKB1	187394940|187394940	0.177000|0.177000	0.23109|0.23109	0.001000|0.001000	0.08648|0.08648	0.596000|0.596000	0.36781|0.36781	2.963000|2.963000	0.49184|0.49184	-0.020000|-0.020000	0.14032|0.14032	0.650000|0.650000	0.86243|0.86243	GAC|GAG		0.373	KLKB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317732.1	NM_000892		31	41	1	0	6.04164e-23	1	7.55205e-23	31	41					T	187157946	G	T	187157946	3	4	309	1	0	0	0	0	1	0	0	0	8412	942	33	5	354	5	KLKB1	4	187157946	Missense_Mutation	SNP	G	TCGA-KK-A5A1-01A-11D-A29Q-08	11259159	187157946	3996330	34	15849											
PPIP5K2	23262	broad.mit.edu	37	chr5	102484976	102484976	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accctgttattctcaatgcaCgagagaaattaattgcttgg	12	13	8	8	1	1	1	1	0	1	1	2	3	1	1	1	1	2	3	1	1	4	5	rs369390587		TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr5:102484976C>T	ENST00000358359.3	+	8	1374	c.865C>T	c.(865-867)Cga>Tga	p.R289*	PPIP5K2_ENST00000414217.1_Nonsense_Mutation_p.R289*|PPIP5K2_ENST00000513500.1_3'UTR|PPIP5K2_ENST00000321521.9_Nonsense_Mutation_p.R289*	NM_001276277.1	NP_001263206.1	O43314	VIP2_HUMAN	diphosphoinositol pentakisphosphate kinase 2	289					inositol metabolic process (GO:0006020)|inositol phosphate metabolic process (GO:0043647)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	acid phosphatase activity (GO:0003993)|ATP binding (GO:0005524)|diphosphoinositol-pentakisphosphate kinase activity (GO:0033857)|inositol hexakisphosphate 1-kinase activity (GO:0052723)|inositol hexakisphosphate 3-kinase activity (GO:0052724)|inositol hexakisphosphate 5-kinase activity (GO:0000832)|inositol-1,3,4,5,6-pentakisphosphate kinase activity (GO:0000827)			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						TCTCAATGCACGAGAGAAATT	0.378																																						ENST00000321521.9																			0				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						c.(865-867)Cga>Tga		diphosphoinositol pentakisphosphate kinase 2		C	stop/ARG	0,4406		0,0,2203	108	109	108		865	1.8	1	5		108	1,8599	1.2+/-3.3	0,1,4299	no	stop-gained	PPIP5K2	NM_015216.2		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		289/1223	102484976	1,13005	2203	4300	6503	SO:0001587	stop_gained	23262				inositol metabolic process	cytosol	acid phosphatase activity|ATP binding|diphosphoinositol-pentakisphosphate kinase activity|inositol 1,3,4,5,6-pentakisphosphate kinase activity|inositol hexakisphosphate 5-kinase activity	g.chr5:102484976C>T	AB007893	CCDS34207.1, CCDS64212.1, CCDS75283.1	5q21.1	2014-05-06	2010-01-26	2010-01-26	ENSG00000145725	ENSG00000145725	2.7.4.24		29035	protein-coding gene	gene with protein product		611648	"histidine acid phosphatase domain containing 1"	HISPPD1		9455477, 17690096, 18981179	Standard	NM_001276277		Approved	KIAA0433, VIP2	uc003koe.4	O43314	OTTHUMG00000181461	ENST00000358359.3:c.865C>T	5.37:g.102484976C>T	ENSP00000351126:p.Arg289*					PPIP5K2_ENST00000414217.1_Nonsense_Mutation_p.R289*|PPIP5K2_ENST00000513500.1_3'UTR|PPIP5K2_ENST00000358359.3_Nonsense_Mutation_p.R289*	p.R289*			O43314	VIP2_HUMAN			8	1438	+			289					A1NI53|A6NGS8|Q8TB50	Nonsense_Mutation	SNP	ENST00000358359.3	37	c.865C>T		.	.	.	.	.	.	.	.	.	.	C	26.3	4.722853	0.89298	0.0	1.16E-4	ENSG00000145725	ENST00000321521;ENST00000507921;ENST00000358359;ENST00000451606;ENST00000414217	.	.	.	5.2	1.84	0.25277	.	0.000000	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.13470	T	0.59	.	7.1725	0.25726	0.5532:0.3571:0.0:0.0898	.	.	.	.	X	289;211;289;289;289	.	ENSP00000313070:R289X	R	+	1	2	PPIP5K2	102512875	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	2.453000	0.44970	0.651000	0.30788	0.655000	0.94253	CGA		0.378	PPIP5K2-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000370487.1	NM_015216		12	58	0	0	0	1	0	12	58					T	102484976	C	T	102484976	4	4	309	1	0	0	0	0	0	1	0	0	12333	528	19	1	891	1	PPIP5K2	5	102484976	Nonsense_Mutation	SNP	C	TCGA-KK-A5A1-01A-11D-A29Q-08		102484976	78430284	35	15850											
CAMK4	814	broad.mit.edu	37	chr5	110814199	110814199	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaagtatctctaaatgccaaGgacttggtaagtgtaaccaa	15	10	9	7	0	1	0	0	0	1	0	2	2	1	1	2	2	2	3	2	2	8	5			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr5:110814199G>T	ENST00000282356.4	+	9	1220	c.822G>T	c.(820-822)aaG>aaT	p.K274N	CAMK4_ENST00000512453.1_Missense_Mutation_p.K274N	NM_001744.4	NP_001735.1	Q16566	KCC4_HUMAN	calcium/calmodulin-dependent protein kinase IV	274	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of phospholipase C activity (GO:0007202)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|long-term memory (GO:0007616)|myeloid dendritic cell differentiation (GO:0043011)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nucleocytoplasmic transport (GO:0006913)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of osteoclast differentiation (GO:0045670)|regulation of T cell differentiation in thymus (GO:0033081)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(3)|prostate(2)|skin(1)|urinary_tract(1)	30		all_cancers(142;1.49e-05)|all_epithelial(76;1.82e-07)|Prostate(80;0.00964)|all_lung(232;0.0181)|Lung NSC(167;0.0298)|Ovarian(225;0.0446)|Colorectal(57;0.0478)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;3.79e-08)|Epithelial(69;5.29e-08)|all cancers(49;1.1e-05)|COAD - Colon adenocarcinoma(37;0.109)		TAAATGCCAAGGACTTGGTAA	0.303																																						ENST00000282356.4																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(3)|prostate(2)|skin(1)|urinary_tract(1)	30						c.(820-822)aaG>aaT		calcium/calmodulin-dependent protein kinase IV							60	63	62					5																	110814199		2202	4299	6501	SO:0001583	missense	814				activation of phospholipase C activity|nerve growth factor receptor signaling pathway|synaptic transmission	cytosol|nucleoplasm	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity	g.chr5:110814199G>T	D30742	CCDS4103.1	5q22.1	2012-09-20			ENSG00000152495	ENSG00000152495	2.7.11.17		1464	protein-coding gene	gene with protein product	"brain Ca++-calmodulin-dependent protein kinase type IV", "calcium/calmodulin-dependent protein kinase type IV catalytic chain", "CAM kinase IV", "CAM kinase- GR"	114080				2536634	Standard	NM_001744		Approved	CaMK-GR	uc003kpf.3	Q16566	OTTHUMG00000128792	ENST00000282356.4:c.822G>T	5.37:g.110814199G>T	ENSP00000282356:p.Lys274Asn					CAMK4_ENST00000512453.1_Missense_Mutation_p.K274N	p.K274N	NM_001744.4	NP_001735.1	Q16566	KCC4_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;3.79e-08)|Epithelial(69;5.29e-08)|all cancers(49;1.1e-05)|COAD - Colon adenocarcinoma(37;0.109)	9	1220	+		all_cancers(142;1.49e-05)|all_epithelial(76;1.82e-07)|Prostate(80;0.00964)|all_lung(232;0.0181)|Lung NSC(167;0.0298)|Ovarian(225;0.0446)|Colorectal(57;0.0478)|Breast(839;0.244)	274			Protein kinase.		D3DSZ7	Missense_Mutation	SNP	ENST00000282356.4	37	c.822G>T	CCDS4103.1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.446312	0.84101	.	.	ENSG00000152495	ENST00000512453;ENST00000282356	T;T	0.68479	-0.33;-0.33	5.8	4.93	0.64822	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.099399	0.64402	D	0.000002	D	0.84469	0.5479	M	0.89968	3.075	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	D	0.87925	0.2706	10	0.87932	D	0	.	14.7283	0.69360	0.0695:0.0:0.9305:0.0	.	274	Q16566	KCC4_HUMAN	N	274	ENSP00000422634:K274N;ENSP00000282356:K274N	ENSP00000282356:K274N	K	+	3	2	CAMK4	110842098	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	6.299000	0.72770	1.438000	0.47492	0.591000	0.81541	AAG		0.303	CAMK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250719.2	NM_001744		9	35	1	0	0.000274275	1	0.000301287	9	35					T	110814199	G	T	110814199	3	4	309	1	0	0	0	0	1	0	0	0	2605	991	35	5	856	5	CAMK4	5	110814199	Missense_Mutation	SNP	G	TCGA-KK-A5A1-01A-11D-A29Q-08	8329223	110814199	70101061	36	15851											
CEP120	153241	broad.mit.edu	37	chr5	122700259	122700259	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taatgcagtttagacttagtTgcagattccaactttctttc	10	17	6	8	0	1	2	0	0	1	2	3	2	2	2	1	0	3	4	1	0	4	8			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr5:122700259T>C	ENST00000306467.5	-	18	2815	c.2511A>G	c.(2509-2511)gcA>gcG	p.A837A	CEP120_ENST00000306481.6_Silent_p.A811A|CEP120_ENST00000328236.5_Silent_p.A837A			Q8N960	CE120_HUMAN	centrosomal protein 120kDa	837					astral microtubule organization (GO:0030953)|cerebral cortex development (GO:0021987)|interkinetic nuclear migration (GO:0022027)|neurogenesis (GO:0022008)|regulation of microtubule-based process (GO:0032886)|regulation of protein localization (GO:0032880)	centrosome (GO:0005813)|cytoplasm (GO:0005737)				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	29						TAGACTTAGTTGCAGATTCCA	0.338																																						ENST00000306467.5																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	29						c.(2509-2511)gcA>gcG		centrosomal protein 120kDa							131	126	128					5																	122700259		2203	4300	6503	SO:0001819	synonymous_variant	153241					centrosome		g.chr5:122700259T>C	AK095646	CCDS4134.2, CCDS54890.1	5q23.2	2014-02-20	2008-08-14	2008-08-14	ENSG00000168944	ENSG00000168944			26690	protein-coding gene	gene with protein product		613446	"coiled-coil domain containing 100"	CCDC100		17920017	Standard	NM_153223		Approved	FLJ36090	uc003ktk.3	Q8N960	OTTHUMG00000128922	ENST00000306467.5:c.2511A>G	5.37:g.122700259T>C						CEP120_ENST00000306481.6_Silent_p.A811A|CEP120_ENST00000328236.5_Silent_p.A837A	p.A837A			Q8N960	CE120_HUMAN			18	2815	-			837					Q6AI52|Q6AW89|Q8IWB5|Q8N9Y0|Q8NDE8	Silent	SNP	ENST00000306467.5	37	c.2511A>G	CCDS4134.2																																																																																				0.338	CEP120-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250899.2	NM_153223		13	63	0	0	0	1	0	13	63					C	122700259	T	C	122700259	2	2	309	1	0	0	0	0	0	0	0	1	3246	1799	63	4		4	CEP120	5	122700259	Silent	SNP	T	TCGA-KK-A5A1-01A-11D-A29Q-08	11886060	122700259	58215001	37	15852											
VDAC1	7416	broad.mit.edu	37	chr5	133326754	133326754	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tattccatttctctgtaaacGtcaggccgtactcagtccat	9	14	6	12	2	3	0	2	0	1	0	6	0	5	0	3	1	2	2	3	1	4	5			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr5:133326754G>A	ENST00000265333.3	-	4	453	c.209C>T	c.(208-210)aCg>aTg	p.T70M	VDAC1_ENST00000466080.1_5'UTR|VDAC1_ENST00000395047.2_Missense_Mutation_p.T70M|VDAC1_ENST00000395044.3_Missense_Mutation_p.T70M	NM_003374.2	NP_003365.1	P21796	VDAC1_HUMAN	voltage-dependent anion channel 1	70					anion transport (GO:0006820)|apoptotic process (GO:0006915)|behavioral fear response (GO:0001662)|epithelial cell differentiation (GO:0030855)|learning (GO:0007612)|neuron-neuron synaptic transmission (GO:0007270)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial nucleoid (GO:0042645)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|pore complex (GO:0046930)	porin activity (GO:0015288)|protein kinase binding (GO:0019901)|voltage-gated anion channel activity (GO:0008308)			endometrium(1)|large_intestine(1)|lung(1)|skin(1)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00806)|Kidney(363;0.02)		Dihydroxyaluminium(DB01375)	CTCTGTAAACGTCAGGCCGTA	0.458																																					NSCLC(127;1776 1806 35523 41489 48154)	ENST00000265333.3																			0				endometrium(1)|large_intestine(1)|lung(1)|skin(1)	4						c.(208-210)aCg>aTg		voltage-dependent anion channel 1	Dihydroxyaluminium(DB01375)						201	181	188					5																	133326754		2203	4300	6503	SO:0001583	missense	7416				apoptosis|interspecies interaction between organisms	mitochondrial nucleoid|mitochondrial outer membrane|plasma membrane|pore complex	porin activity|protein binding|voltage-gated anion channel activity	g.chr5:133326754G>A		CCDS4168.1	5q31	2011-11-15			ENSG00000213585	ENSG00000213585		"Voltage-dependent anion channels"	12669	protein-coding gene	gene with protein product		604492				7517385	Standard	NM_003374		Approved	MGC111064, PORIN	uc003kyr.2	P21796	OTTHUMG00000129118	ENST00000265333.3:c.209C>T	5.37:g.133326754G>A	ENSP00000265333:p.Thr70Met					VDAC1_ENST00000395044.3_Missense_Mutation_p.T70M|VDAC1_ENST00000466080.1_5'UTR|VDAC1_ENST00000395047.2_Missense_Mutation_p.T70M	p.T70M	NM_003374.2	NP_003365.1	P21796	VDAC1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00806)|Kidney(363;0.02)		4	453	-			70					B3KVK4|D3DQ93|Q5FVE7|Q9UIQ5|Q9UPL0	Missense_Mutation	SNP	ENST00000265333.3	37	c.209C>T	CCDS4168.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.065916	0.76187	.	.	ENSG00000213585	ENST00000265333;ENST00000395044;ENST00000395047;ENST00000425992	T;T;T;T	0.50001	0.76;0.76;0.76;0.76	5.91	5.91	0.95273	.	0.045121	0.85682	D	0.000000	T	0.59224	0.2178	M	0.78801	2.425	0.80722	D	1	D	0.58620	0.983	P	0.50082	0.63	T	0.64584	-0.6373	10	0.72032	D	0.01	.	13.9012	0.63804	0.0777:0.0:0.9223:0.0	.	70	P21796	VDAC1_HUMAN	M	70	ENSP00000265333:T70M;ENSP00000378484:T70M;ENSP00000378487:T70M;ENSP00000390129:T70M	ENSP00000265333:T70M	T	-	2	0	VDAC1	133354653	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	6.517000	0.73759	2.793000	0.96121	0.655000	0.94253	ACG		0.458	VDAC1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259208.1			20	124	0	0	0	1	0	20	124					A	133326754	G	A	133326754	3	1	309	1	0	0	0	0	1	0	0	0	17143	1145	40	1	666	1	VDAC1	5	133326754	Missense_Mutation	SNP	G	TCGA-KK-A5A1-01A-11D-A29Q-08	10626495	133326754	47588506	38	15853											
SLC36A3	285641	broad.mit.edu	37	chr5	150667007	150667007	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggcagatgttggaggtcaCgtgggctttttccaccatct	6	13	12	10	1	2	1	1	0	1	1	3	2	3	2	2	4	0	3	2	4	0	3	rs142449284	byFrequency	TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr5:150667007C>T	ENST00000335230.3	-	6	919	c.508G>A	c.(508-510)Gtg>Atg	p.V170M	SLC36A3_ENST00000377713.3_Missense_Mutation_p.V211M	NM_181774.3	NP_861439.3	Q495N2	S36A3_HUMAN	solute carrier family 36, member 3	170						integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|skin(1)|stomach(2)|urinary_tract(2)	21		Medulloblastoma(196;0.109)|all_hematologic(541;0.243)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TTGGAGGTCACGTGGGCTTTT	0.468																																						ENST00000335230.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|skin(1)|stomach(2)|urinary_tract(2)	21						c.(508-510)Gtg>Atg		solute carrier family 36, member 3		C	MET/VAL,MET/VAL	2,4404	4.2+/-10.8	0,2,2201	112	105	107		631,508	-5.6	0	5	dbSNP_134	107	0,8600		0,0,4300	yes	missense,missense	SLC36A3	NM_001145017.1,NM_181774.3	21,21	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	benign,benign	211/512,170/471	150667007	2,13004	2203	4300	6503	SO:0001583	missense	285641					integral to membrane		g.chr5:150667007C>T	AY162215	CCDS4314.1, CCDS47316.1	5q33.1	2013-07-17	2013-07-17		ENSG00000186334	ENSG00000186334		"Solute carriers"	19659	protein-coding gene	gene with protein product		608332				12809675	Standard	NM_181774		Approved	PAT3, TRAMD2, tramdorin2	uc003ltw.2	Q495N2	OTTHUMG00000130128	ENST00000335230.3:c.508G>A	5.37:g.150667007C>T	ENSP00000334750:p.Val170Met					SLC36A3_ENST00000377713.3_Missense_Mutation_p.V211M	p.V170M	NM_181774.3	NP_861439.3	Q495N2	S36A3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		6	919	-		Medulloblastoma(196;0.109)|all_hematologic(541;0.243)	170					Q495N3|Q6ZMU7|Q6ZRU4|Q7Z6B4	Missense_Mutation	SNP	ENST00000335230.3	37	c.508G>A	CCDS4314.1	.	.	.	.	.	.	.	.	.	.	C	12.42	1.933301	0.34096	4.54E-4	0.0	ENSG00000186334	ENST00000335230;ENST00000377713	T;T	0.02236	4.38;4.38	4.56	-5.55	0.02536	.	1.037600	0.07580	N	0.920115	T	0.01421	0.0046	N	0.20685	0.6	0.09310	N	1	B;B;B	0.21905	0.034;0.008;0.062	B;B;B	0.20184	0.027;0.028;0.024	T	0.47459	-0.9116	10	0.33141	T	0.24	.	3.7569	0.08589	0.1005:0.3604:0.0947:0.4444	.	211;170;155	Q495N2-3;Q495N2;Q495N2-2	.;S36A3_HUMAN;.	M	170;211	ENSP00000334750:V170M;ENSP00000366942:V211M	ENSP00000334750:V170M	V	-	1	0	SLC36A3	150647200	0.001000	0.12720	0.014000	0.15608	0.921000	0.55340	-0.077000	0.11394	-1.241000	0.02526	0.655000	0.94253	GTG		0.468	SLC36A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252436.1	NM_181774		5	45	0	0	0	1	0	5	45					T	150667007	C	T	150667007	3	4	309	1	0	0	0	0	1	0	0	0	14595	536	19	1	924	1	SLC36A3	5	150667007	Missense_Mutation	SNP	C	TCGA-KK-A5A1-01A-11D-A29Q-08	17340253	150667007	30248253	39	15854											
PANK3	79646	broad.mit.edu	37	chr5	167995897	167995897	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aaatatttccgaatacttttTaaactctcaacttcttcttg	12	18	2	9	1	3	0	1	0	3	0	5	1	4	0	1	0	3	0	1	0	7	9			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr5:167995897T>A	ENST00000239231.6	-	2	451	c.135A>T	c.(133-135)ttA>ttT	p.L45F	PANK3_ENST00000520504.1_5'Flank	NM_024594.3	NP_078870.1	Q9H999	PANK3_HUMAN	pantothenate kinase 3	45					coenzyme A biosynthetic process (GO:0015937)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|pantothenate kinase activity (GO:0004594)			NS(1)|cervix(2)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	16	Renal(175;0.000159)|Lung NSC(126;0.0441)|all_lung(126;0.0909)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0989)|OV - Ovarian serous cystadenocarcinoma(192;0.147)|Epithelial(171;0.188)		GAATACTTTTTAAACTCTCAA	0.413																																						ENST00000239231.6																			0				NS(1)|cervix(2)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	16						c.(133-135)ttA>ttT		pantothenate kinase 3							119	113	115					5																	167995897		2203	4300	6503	SO:0001583	missense	79646				coenzyme A biosynthetic process	cytoplasm|nucleus	ATP binding|pantothenate kinase activity	g.chr5:167995897T>A	AK022961	CCDS4368.1	5q35.1	2008-02-05			ENSG00000120137	ENSG00000120137			19365	protein-coding gene	gene with protein product		606161				11479594	Standard	NM_024594		Approved	FLJ12899	uc003lzz.2	Q9H999	OTTHUMG00000130410	ENST00000239231.6:c.135A>T	5.37:g.167995897T>A	ENSP00000239231:p.Leu45Phe						p.L45F	NM_024594.3	NP_078870.1	Q9H999	PANK3_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0989)|OV - Ovarian serous cystadenocarcinoma(192;0.147)|Epithelial(171;0.188)	2	451	-	Renal(175;0.000159)|Lung NSC(126;0.0441)|all_lung(126;0.0909)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	45					D3DQL1|Q53FJ9|Q7RTX4	Missense_Mutation	SNP	ENST00000239231.6	37	c.135A>T	CCDS4368.1	.	.	.	.	.	.	.	.	.	.	T	14.77	2.634858	0.47049	.	.	ENSG00000120137	ENST00000239231;ENST00000522176	D;D	0.99574	-6.2;-6.2	5.6	3.25	0.37280	.	0.064020	0.64402	D	0.000005	D	0.98529	0.9509	M	0.68593	2.085	0.52501	D	0.999957	B	0.32010	0.351	B	0.36030	0.216	D	0.97073	0.9779	10	0.27082	T	0.32	-7.8125	7.0523	0.25079	0.0:0.3478:0.0:0.6521	.	45	Q9H999	PANK3_HUMAN	F	45;30	ENSP00000239231:L45F;ENSP00000428631:L30F	ENSP00000239231:L45F	L	-	3	2	PANK3	167928475	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	0.662000	0.25038	0.425000	0.26087	0.482000	0.46254	TTA		0.413	PANK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252793.2	NM_024594		8	115	0	0	0	1	0	8	115					A	167995897	T	A	167995897	3	1	309	1	0	0	0	0	1	0	0	0	11418	1751	61	5	1001	5	PANK3	5	167995897	Missense_Mutation	SNP	T	TCGA-KK-A5A1-01A-11D-A29Q-08	17328890	167995897	12919363	40	15855											
MAML1	9794	broad.mit.edu	37	chr5	179193305	179193305	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gccagatgtccacatggcagCagacggggccctcccacagt	9	5	12	15	1	0	2	0	0	0	2	2	2	2	2	4	3	1	2	4	3	0	0			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr5:179193305C>T	ENST00000292599.3	+	2	1557	c.1294C>T	c.(1294-1296)Cag>Tag	p.Q432*	MAML1_ENST00000503050.1_3'UTR	NM_014757.4	NP_055572.1			mastermind-like 1 (Drosophila)											central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	36	all_cancers(89;0.000197)|all_epithelial(37;6.7e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218)	all_cancers(40;0.0308)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CACATGGCAGCAGACGGGGCC	0.612																																						ENST00000292599.3																			0				central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	36						c.(1294-1296)Cag>Tag		mastermind-like 1 (Drosophila)							75	88	84					5																	179193305		2203	4300	6503	SO:0001587	stop_gained	9794				Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	peptide antigen binding|protein kinase binding|transcription coactivator activity	g.chr5:179193305C>T	D83785	CCDS34315.1	5q35	2008-07-18	2001-11-28			ENSG00000161021			13632	protein-coding gene	gene with protein product	"mastermind homolog"	605424	"mastermind (drosophila)-like 1"			11101851, 11390662	Standard	NM_014757		Approved	KIAA0200, Mam-1	uc003mkm.3	Q92585		ENST00000292599.3:c.1294C>T	5.37:g.179193305C>T	ENSP00000292599:p.Gln432*					MAML1_ENST00000503050.1_3'UTR	p.Q432*	NM_014757.4	NP_055572.1	Q92585	MAML1_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		2	1557	+	all_cancers(89;0.000197)|all_epithelial(37;6.7e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218)	all_cancers(40;0.0308)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	432						Nonsense_Mutation	SNP	ENST00000292599.3	37	c.1294C>T	CCDS34315.1	.	.	.	.	.	.	.	.	.	.	C	38	7.163781	0.98107	.	.	ENSG00000161021	ENST00000292599;ENST00000376951	.	.	.	4.89	4.89	0.63831	.	0.185873	0.38326	N	0.001728	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.34782	T	0.22	-4.5829	18.0409	0.89318	0.0:1.0:0.0:0.0	.	.	.	.	X	432;469	.	ENSP00000292599:Q432X	Q	+	1	0	MAML1	179125911	1.000000	0.71417	1.000000	0.80357	0.676000	0.39594	7.229000	0.78088	2.254000	0.74563	0.313000	0.20887	CAG		0.612	MAML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372316.2	NM_014757		5	278	0	0	0	1	0	5	278					T	179193305	C	T	179193305	4	4	309	1	0	0	0	0	0	1	0	0	9205	711	25	3	1300	3	MAML1	5	179193305	Nonsense_Mutation	SNP	C	TCGA-KK-A5A1-01A-11D-A29Q-08	11197408	179193305	1721955	41	15856											
RASGEF1C	255426	broad.mit.edu	37	chr5	179564645	179564645	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgatgcacaggtggcagaccCgggccaggagctcccggggc	7	3	17	14	3	0	1	0	0	0	1	1	3	1	2	3	6	2	3	3	6	0	0	rs373050178		TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr5:179564645C>T	ENST00000393371.2	-	2	541	c.245G>A	c.(244-246)cGg>cAg	p.R82Q	RASGEF1C_ENST00000519883.1_5'Flank|RASGEF1C_ENST00000361132.4_Missense_Mutation_p.R82Q|RASGEF1C_ENST00000522500.1_5'Flank			Q8N431	RGF1C_HUMAN	RasGEF domain family, member 1C	82	N-terminal Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00135}.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	intracellular (GO:0005622)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|stomach(1)	12	all_cancers(89;3.44e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	all_cancers(40;0.0242)|Medulloblastoma(196;0.00498)|all_neural(177;0.0137)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GTGGCAGACCCGGGCCAGGAG	0.637																																						ENST00000393371.2																			0				breast(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|stomach(1)	12						c.(244-246)cGg>cAg		RasGEF domain family, member 1C		C	GLN/ARG	1,4401	2.1+/-5.4	0,1,2200	26	26	26		245	4.2	1	5		26	0,8594		0,0,4297	no	missense	RASGEF1C	NM_175062.3	43	0,1,6497	TT,TC,CC		0.0,0.0227,0.0077	possibly-damaging	82/467	179564645	1,12995	2201	4297	6498	SO:0001583	missense	255426				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	guanyl-nucleotide exchange factor activity	g.chr5:179564645C>T	AK093160	CCDS4452.1	5q35.3	2005-08-16			ENSG00000146090	ENSG00000146090			27400	protein-coding gene	gene with protein product						12477932	Standard	XM_006714839		Approved	FLJ35841	uc003mlr.3	Q8N431	OTTHUMG00000130914	ENST00000393371.2:c.245G>A	5.37:g.179564645C>T	ENSP00000377037:p.Arg82Gln					RASGEF1C_ENST00000361132.4_Missense_Mutation_p.R82Q	p.R82Q			Q8N431	RGF1C_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		2	541	-	all_cancers(89;3.44e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	all_cancers(40;0.0242)|Medulloblastoma(196;0.00498)|all_neural(177;0.0137)	82			N-terminal Ras-GEF.		D3DWQ7|Q7Z4T0|Q8NA49	Missense_Mutation	SNP	ENST00000393371.2	37	c.245G>A	CCDS4452.1	.	.	.	.	.	.	.	.	.	.	C	15.50	2.851735	0.51270	2.27E-4	0.0	ENSG00000146090	ENST00000361132;ENST00000393371	T;T	0.47528	0.84;0.84	4.17	4.17	0.49024	Ras guanine nucleotide exchange factor, domain (1);Ras-like guanine nucleotide exchange factor, N-terminal (2);	0.000000	0.85682	D	0.000000	T	0.36276	0.0961	L	0.42245	1.32	0.80722	D	1	P	0.37864	0.61	B	0.32583	0.148	T	0.18745	-1.0327	10	0.13853	T	0.58	.	15.4325	0.75112	0.0:1.0:0.0:0.0	.	82	Q8N431	RGF1C_HUMAN	Q	82	ENSP00000354963:R82Q;ENSP00000377037:R82Q	ENSP00000354963:R82Q	R	-	2	0	RASGEF1C	179497251	0.938000	0.31826	1.000000	0.80357	0.811000	0.45836	2.020000	0.41010	2.059000	0.61396	0.511000	0.50034	CGG		0.637	RASGEF1C-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253506.2	NM_175062		7	48	0	0	0	1	0	7	48					T	179564645	C	T	179564645	3	4	309	1	0	0	0	0	1	0	0	0	13071	652	23	2	1203	2	RASGEF1C	5	179564645	Missense_Mutation	SNP	C	TCGA-KK-A5A1-01A-11D-A29Q-08	371340	179564645	1350615	42	15857											
ZBTB22	9278	broad.mit.edu	37	chr6	33283001	33283001	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cccgcccaggcggtgccggcGctcacagtgtcctcggtggc	3	6	15	17	5	1	0	1	0	0	0	3	0	2	0	4	5	1	1	4	5	0	0			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr6:33283001G>A	ENST00000431845.2	-	2	1844	c.1693C>T	c.(1693-1695)Cgc>Tgc	p.R565C	TAPBP_ENST00000475304.1_5'Flank|TAPBP_ENST00000426633.2_5'Flank|TAPBP_ENST00000434618.2_5'Flank|TAPBP_ENST00000456592.2_5'Flank|TAPBP_ENST00000489157.1_5'Flank|ZBTB22_ENST00000418724.1_Missense_Mutation_p.R565C	NM_005453.4	NP_005444.4	O15209	ZBT22_HUMAN	zinc finger and BTB domain containing 22	565					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(3)	21						CGGTGCCGGCGCTCACAGTGT	0.672																																						ENST00000431845.2																			0				breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(3)	21						c.(1693-1695)Cgc>Tgc		zinc finger and BTB domain containing 22							35	37	36					6																	33283001		2200	4299	6499	SO:0001583	missense	0				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:33283001G>A	Z97183	CCDS4775.1	6p21.3	2013-01-09	2006-04-12	2006-04-12	ENSG00000236104	ENSG00000236104		"-", "BTB/POZ domain containing", "Zinc fingers, C2H2-type"	13085	protein-coding gene	gene with protein product		611439	"zinc finger protein 297"	ZNF297			Standard	NM_005453		Approved	BING1, ZNF297A, fruitless, fru, ZBTB22A	uc010juu.3	O15209	OTTHUMG00000031110	ENST00000431845.2:c.1693C>T	6.37:g.33283001G>A	ENSP00000407545:p.Arg565Cys					ZBTB22_ENST00000418724.1_Missense_Mutation_p.R565C	p.R565C	NM_005453.4	NP_005444.4	O15209	ZBT22_HUMAN			2	1844	-			565					B0V007|Q5HYV4|Q5STL0|Q5STR7|Q8WV82	Missense_Mutation	SNP	ENST00000431845.2	37	c.1693C>T	CCDS4775.1	.	.	.	.	.	.	.	.	.	.	G	17.80	3.479166	0.63849	.	.	ENSG00000236104	ENST00000418724;ENST00000431845	T;T	0.09163	3.01;3.01	4.15	2.12	0.27331	.	0.000000	0.29916	N	0.010868	T	0.09379	0.0231	N	0.24115	0.695	0.80722	D	1	D	0.76494	0.999	D	0.72625	0.978	T	0.08554	-1.0716	10	0.87932	D	0	.	9.2385	0.37481	0.0:0.0:0.4783:0.5217	.	565	O15209	ZBT22_HUMAN	C	565	ENSP00000404403:R565C;ENSP00000407545:R565C	ENSP00000404403:R565C	R	-	1	0	ZBTB22	33390979	1.000000	0.71417	0.987000	0.45799	0.995000	0.86356	2.839000	0.48207	1.045000	0.40225	0.542000	0.68232	CGC		0.672	ZBTB22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076183.2			8	63	0	0	0	1	0	8	63					A	33283001	G	A	33283001	3	1	309	1	0	0	0	0	1	0	0	0	17527	1087	38	1	215	1	ZBTB22	6	33283001	Missense_Mutation	SNP	G	TCGA-KK-A5A1-01A-11D-A29Q-08		33283001	137832066	43	15858											
HIVEP2	3097	broad.mit.edu	37	chr6	143074327	143074327	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cttgctgctgtgaaagtccaActgcttgtcatccacacaac	10	11	7	13	0	1	1	1	1	0	0	3	1	3	1	2	0	5	3	2	0	3	2			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr6:143074327A>G	ENST00000367604.1	-	9	7897	c.7258T>C	c.(7258-7260)Ttg>Ctg	p.L2420L	HIVEP2_ENST00000012134.2_Silent_p.L2420L|RP1-67K17.3_ENST00000437067.1_RNA|HIVEP2_ENST00000367603.2_Silent_p.L2420L			P31629	ZEP2_HUMAN	human immunodeficiency virus type I enhancer binding protein 2	2420					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	100				OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)		TGAAAGTCCAACTGCTTGTCA	0.428																																					Esophageal Squamous(107;843 1510 13293 16805 42198)	ENST00000367603.2																			0				NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	100						c.(7258-7260)Ttg>Ctg		human immunodeficiency virus type I enhancer binding protein 2							229	226	227					6																	143074327		2035	4194	6229	SO:0001819	synonymous_variant	3097				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:143074327A>G	M60119	CCDS43510.1	6q23-q24	2013-01-08	2001-11-28		ENSG00000010818	ENSG00000010818		"Zinc fingers, C2H2-type"	4921	protein-coding gene	gene with protein product	"c-myc intron binding protein 1"	143054	"human immunodeficiency virus type I enhancer-binding protein 2"			1733857, 2022670	Standard	NM_006734		Approved	MBP-2, HIV-EP2, MIBP1, ZAS2, Schnurri-2, ZNF40B	uc003qjd.3	P31629	OTTHUMG00000015713	ENST00000367604.1:c.7258T>C	6.37:g.143074327A>G						RP1-67K17.3_ENST00000437067.1_RNA|HIVEP2_ENST00000367604.1_Silent_p.L2420L|HIVEP2_ENST00000012134.2_Silent_p.L2420L	p.L2420L	NM_006734.3	NP_006725.3	P31629	ZEP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)	10	8000	-			2420					Q02646|Q5THT5|Q9NS05	Silent	SNP	ENST00000367604.1	37	c.7258T>C	CCDS43510.1																																																																																				0.428	HIVEP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042495.1			10	246	0	0	0	1	0	10	246					G	143074327	A	G	143074327	2	3	309	1	0	0	0	0	0	0	0	1	7187	40	2	4		4	HIVEP2	6	143074327	Silent	SNP	A	TCGA-KK-A5A1-01A-11D-A29Q-08	109791326	143074327	28040740	44	15859											
QKI	9444	broad.mit.edu	37	chr6	163899929	163899929	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	caatgagggataaaaaaaagGtaagtccttgaaaatggact	19	8	10	4	0	0	2	0	2	0	0	1	4	1	4	1	3	0	1	1	3	8	3			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr6:163899929G>T	ENST00000361752.3	+	3	953		c.e3+1		QKI_ENST00000361195.2_Splice_Site|QKI_ENST00000453779.2_Splice_Site|QKI_ENST00000275262.7_Splice_Site|QKI_ENST00000424802.3_Splice_Site|QKI_ENST00000392127.2_Splice_Site	NM_006775.2|NM_206853.2|NM_206854.2|NM_206855.2	NP_006766.1|NP_996735.1|NP_996736.1|NP_996737.1	Q96PU8	QKI_HUMAN	QKI, KH domain containing, RNA binding						long-chain fatty acid biosynthetic process (GO:0042759)|mRNA processing (GO:0006397)|mRNA transport (GO:0051028)|muscle cell differentiation (GO:0042692)|myelination (GO:0042552)|positive regulation of gene expression (GO:0010628)|regulation of translation (GO:0006417)|RNA splicing (GO:0008380)|spermatid development (GO:0007286)|vasculogenesis (GO:0001570)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(2)|large_intestine(13)|lung(5)|ovary(1)|prostate(3)|urinary_tract(2)	27		Breast(66;5e-05)|Prostate(117;0.0235)|all_neural(5;0.0416)|Ovarian(120;0.0448)|Glioma(2;0.203)		all cancers(1;4.4e-46)|OV - Ovarian serous cystadenocarcinoma(33;6.91e-23)|GBM - Glioblastoma multiforme(1;2.94e-19)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|Kidney(3;0.000199)|KIRC - Kidney renal clear cell carcinoma(3;0.000234)		TAAAAAAAAGGTAAGTCCTTG	0.348																																						ENST00000361752.3																			0				central_nervous_system(1)|endometrium(2)|large_intestine(13)|lung(5)|ovary(1)|prostate(3)|urinary_tract(2)	27						c.e3+1		QKI, KH domain containing, RNA binding							77	78	77					6																	163899929		2203	4300	6503	SO:0001630	splice_region_variant	9444				mRNA processing|mRNA transport|regulation of translation|RNA splicing	cytoplasm|nucleus|plasma membrane	RNA binding|SH3 domain binding	g.chr6:163899929G>T	AB067798	CCDS5285.1, CCDS5286.1, CCDS5287.1, CCDS43525.1, CCDS75546.1	6q26	2011-09-12	2011-09-12		ENSG00000112531	ENSG00000112531			21100	protein-coding gene	gene with protein product		609590	"quaking homolog, KH domain RNA binding (mouse)"			10535969	Standard	NM_006775		Approved	QK3	uc003qui.3	Q96PU8	OTTHUMG00000015977	ENST00000361752.3:c.402+1G>T	6.37:g.163899929G>T						QKI_ENST00000275262.7_Splice_Site|QKI_ENST00000453779.2_Splice_Site|QKI_ENST00000392127.2_Splice_Site|QKI_ENST00000424802.3_Splice_Site|QKI_ENST00000361195.2_Splice_Site		NM_006775.2|NM_206853.2|NM_206854.2|NM_206855.2	NP_006766.1|NP_996735.1|NP_996736.1|NP_996737.1	Q96PU8	QKI_HUMAN		all cancers(1;4.4e-46)|OV - Ovarian serous cystadenocarcinoma(33;6.91e-23)|GBM - Glioblastoma multiforme(1;2.94e-19)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|Kidney(3;0.000199)|KIRC - Kidney renal clear cell carcinoma(3;0.000234)	3	953	+		Breast(66;5e-05)|Prostate(117;0.0235)|all_neural(5;0.0416)|Ovarian(120;0.0448)|Glioma(2;0.203)						Q2I375|Q5MJQ1|Q969L9|Q96EJ3|Q96KA3|Q96PU6|Q96PU7|Q9P0X6|Q9P0X7|Q9P0X8|Q9P0X9|Q9P0Y0|Q9P0Y1	Splice_Site	SNP	ENST00000361752.3	37		CCDS5285.1	.	.	.	.	.	.	.	.	.	.	G	25.0	4.592580	0.86953	.	.	ENSG00000112531	ENST00000453779;ENST00000275262;ENST00000392127;ENST00000361752;ENST00000361195;ENST00000424802;ENST00000544436;ENST00000537041;ENST00000544823	.	.	.	5.45	5.45	0.79879	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.2968	0.94126	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	QKI	163819919	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	9.390000	0.97246	2.561000	0.86390	0.591000	0.81541	.		0.348	QKI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043016.2	NM_006775	Intron	9	42	1	0	0.00829132	1	0.00884001	9	42					T	163899929	G	T	163899929	5	4	309	1	0	0	0	0	0	0	1	0	12873	1275	44	5	413	5	QKI	6	163899929	Splice_Site	SNP	G	TCGA-KK-A5A1-01A-11D-A29Q-08	20825602	163899929	7215138	45	15860											
CTTNBP2	83992	broad.mit.edu	37	chr7	117432774	117432774	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgccacgctcttcctcaaggCgggcagccagcttcttgtgc	5	10	11	15	2	3	0	1	0	2	0	4	0	4	0	3	2	4	3	3	2	1	3	rs375304355		TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr7:117432774C>T	ENST00000160373.3	-	4	567	c.476G>A	c.(475-477)cGc>cAc	p.R159H	CTTNBP2_ENST00000487820.1_5'UTR	NM_033427.2	NP_219499.1	Q8WZ74	CTTB2_HUMAN	cortactin binding protein 2	159					brain development (GO:0007420)	cell projection (GO:0042995)|synaptic vesicle (GO:0008021)				breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83	Lung NSC(10;0.0018)|all_lung(10;0.002)			LUSC - Lung squamous cell carcinoma(290;0.133)		TTCCTCAAGGCGGGCAGCCAG	0.507																																						ENST00000160373.3																			0				breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83						c.(475-477)cGc>cAc		cortactin binding protein 2		C	HIS/ARG	0,4406		0,0,2203	76	71	73		476	4.9	1	7		73	2,8598	2.2+/-6.3	0,2,4298	no	missense	CTTNBP2	NM_033427.2	29	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	benign	159/1664	117432774	2,13004	2203	4300	6503	SO:0001583	missense	83992							g.chr7:117432774C>T		CCDS5774.1	7q31	2013-01-10	2004-06-08	2004-06-09	ENSG00000077063	ENSG00000077063		"Ankyrin repeat domain containing"	15679	protein-coding gene	gene with protein product		609772	"cortactin binding protein 2"	CORTBP2, C7orf8		11707066	Standard	XM_005250635		Approved	KIAA1758, Orf4	uc003vjf.3	Q8WZ74	OTTHUMG00000022880	ENST00000160373.3:c.476G>A	7.37:g.117432774C>T	ENSP00000160373:p.Arg159His					CTTNBP2_ENST00000487820.1_5'UTR	p.R159H	NM_033427.2	NP_219499.1	Q8WZ74	CTTB2_HUMAN		LUSC - Lung squamous cell carcinoma(290;0.133)	4	567	-	Lung NSC(10;0.0018)|all_lung(10;0.002)		159					O43389|Q7LG11|Q9C0A5	Missense_Mutation	SNP	ENST00000160373.3	37	c.476G>A	CCDS5774.1	.	.	.	.	.	.	.	.	.	.	C	13.54	2.267665	0.40095	0.0	2.33E-4	ENSG00000077063	ENST00000160373;ENST00000434890;ENST00000454375	T;T;T	0.47528	0.84;0.84;0.84	5.77	4.88	0.63580	Cortactin-binding protein-2, N-terminal (1);	0.145914	0.64402	N	0.000004	T	0.42359	0.1199	L	0.44542	1.39	0.37333	D	0.910065	B	0.20052	0.041	B	0.20955	0.032	T	0.44802	-0.9304	10	0.49607	T	0.09	0.6124	14.2368	0.65932	0.0:0.9274:0.0:0.0726	.	159	Q8WZ74	CTTB2_HUMAN	H	159;117;117	ENSP00000160373:R159H;ENSP00000396014:R117H;ENSP00000405831:R117H	ENSP00000160373:R159H	R	-	2	0	CTTNBP2	117220010	1.000000	0.71417	0.986000	0.45419	0.922000	0.55478	2.737000	0.47393	1.554000	0.49487	0.650000	0.86243	CGC		0.507	CTTNBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059201.4	NM_033427		8	110	0	0	0	1	0	8	110					T	117432774	C	T	117432774	3	4	309	1	0	0	0	0	1	0	0	0	4045	768	27	1	4595	1	CTTNBP2	7	117432774	Missense_Mutation	SNP	C	TCGA-KK-A5A1-01A-11D-A29Q-08		117432774	41705889	46	15861											
DENND2A	27147	broad.mit.edu	37	chr7	140267046	140267046	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gcgcctgcttcagccgggacTtcacgttgaccaggcgctgg	5	8	14	14	4	2	1	2	1	0	0	2	2	2	2	3	3	2	3	3	3	0	3			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr7:140267046T>G	ENST00000275884.6	-	8	2036	c.1619A>C	c.(1618-1620)aAg>aCg	p.K540T	DENND2A_ENST00000537639.1_Missense_Mutation_p.K540T|DENND2A_ENST00000492720.1_Missense_Mutation_p.K540T|DENND2A_ENST00000496613.1_Missense_Mutation_p.K540T			Q9ULE3	DEN2A_HUMAN	DENN/MADD domain containing 2A	540					positive regulation of Rab GTPase activity (GO:0032851)|protein transport (GO:0015031)|retrograde transport, endosome to Golgi (GO:0042147)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(22)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49	Melanoma(164;0.00956)					CAGCCGGGACTTCACGTTGAC	0.562																																						ENST00000275884.6																			0				breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(22)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49						c.(1618-1620)aAg>aCg		DENN/MADD domain containing 2A							30	32	32					7																	140267046		1921	4154	6075	SO:0001583	missense	27147							g.chr7:140267046T>G	AB033103	CCDS43659.1	7q34	2012-10-03	2005-08-17	2005-08-17	ENSG00000146966	ENSG00000146966		"DENN/MADD domain containing"	22212	protein-coding gene	gene with protein product			"KIAA1277"	KIAA1277			Standard	NM_015689		Approved	FAM31D	uc010lnj.3	Q9ULE3	OTTHUMG00000157411	ENST00000275884.6:c.1619A>C	7.37:g.140267046T>G	ENSP00000275884:p.Lys540Thr					DENND2A_ENST00000537639.1_Missense_Mutation_p.K540T|DENND2A_ENST00000496613.1_Missense_Mutation_p.K540T|DENND2A_ENST00000492720.1_Missense_Mutation_p.K540T	p.K540T			Q9ULE3	DEN2A_HUMAN			8	2036	-	Melanoma(164;0.00956)		540					C9JUI3|Q1RMD5|Q86XY0	Missense_Mutation	SNP	ENST00000275884.6	37	c.1619A>C	CCDS43659.1	.	.	.	.	.	.	.	.	.	.	T	18.77	3.694010	0.68386	.	.	ENSG00000146966	ENST00000275884;ENST00000537639;ENST00000496613;ENST00000492720	T;T;T;T	0.10860	3.53;3.53;3.53;2.83	5.86	4.71	0.59529	.	0.198263	0.44097	D	0.000485	T	0.19366	0.0465	L	0.40543	1.245	0.41131	D	0.985886	D;B	0.58268	0.982;0.389	P;B	0.58970	0.849;0.25	T	0.00752	-1.1581	10	0.46703	T	0.11	-21.5225	11.614	0.51078	0.0:0.069:0.0:0.931	.	540;540	Q9ULE3-2;Q9ULE3	.;DEN2A_HUMAN	T	540	ENSP00000275884:K540T;ENSP00000442245:K540T;ENSP00000419654:K540T;ENSP00000419464:K540T	ENSP00000275884:K540T	K	-	2	0	DENND2A	139913515	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.624000	0.61254	1.058000	0.40530	0.533000	0.62120	AAG		0.562	DENND2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348742.1	NM_015689		11	76	0	0	0	1	0	11	76					G	140267046	T	G	140267046	3	3	309	1	0	0	0	0	1	0	0	0	4429	1609	56	5	1458	5	DENND2A	7	140267046	Missense_Mutation	SNP	T	TCGA-KK-A5A1-01A-11D-A29Q-08	22834272	140267046	18871617	47	15862											
PXDNL	137902	broad.mit.edu	37	chr8	52359718	52359718	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tggccttccacagggagctgCcctcctgcaaaaagaggtaa	11	7	11	12	0	0	1	0	0	0	1	2	2	2	2	4	3	3	3	4	3	3	2			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr8:52359718C>A	ENST00000356297.4	-	12	1471	c.1371G>T	c.(1369-1371)ggG>ggT	p.G457G	PXDNL_ENST00000543296.1_Silent_p.G457G	NM_144651.4	NP_653252	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	457	Ig-like C2-type 3.				hydrogen peroxide catabolic process (GO:0042744)|oxidation-reduction process (GO:0055114)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	endonuclease activity (GO:0004519)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				CAGGGAGCTGCCCTCCTGCAA	0.517																																						ENST00000356297.4																			0				NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48						c.(1369-1371)ggG>ggT		peroxidasin homolog (Drosophila)-like							93	92	92					8																	52359718		2027	4187	6214	SO:0001819	synonymous_variant	137902				hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity	g.chr8:52359718C>A		CCDS47855.1	8q11.21-q11.22	2013-02-18	2007-01-12		ENSG00000147485	ENSG00000147485		"Immunoglobulin superfamily / I-set domain containing"	26359	protein-coding gene	gene with protein product	"polysomal ribonuclease 1 homolog (Xenopus)"	615904	"peroxidasin homolog-like (Drosophila)"			22543864	Standard	NM_144651		Approved	FLJ25471, PMR1	uc003xqu.4	A1KZ92	OTTHUMG00000164244	ENST00000356297.4:c.1371G>T	8.37:g.52359718C>A						PXDNL_ENST00000543296.1_Silent_p.G457G	p.G457G	NM_144651.4	NP_653252.3	A1KZ92	PXDNL_HUMAN			12	1471	-		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)	457			Ig-like C2-type 3.		B5ME43|B6CGZ3|H0YBM9|Q6ZMR2|Q96LH9	Silent	SNP	ENST00000356297.4	37	c.1371G>T	CCDS47855.1																																																																																				0.517	PXDNL-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377905.1	NM_144651		6	111	1	0	0.00198382	1	0.00214667	6	111					A	52359718	C	A	52359718	2	1	309	1	0	0	0	0	0	0	0	1	12848	726	26	5		5	PXDNL	8	52359718	Silent	SNP	C	TCGA-KK-A5A1-01A-11D-A29Q-08		52359718	94004304	48	15863											
ASPH	444	broad.mit.edu	37	chr8	62489335	62489335	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagggtctcagaatacctgcGccttcccatatcttgctcgt	8	12	8	13	2	2	1	1	0	2	1	5	1	3	1	3	1	3	1	3	1	4	4			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr8:62489335G>A	ENST00000379454.4	-	16	1332	c.1145C>T	c.(1144-1146)gCg>gTg	p.A382V	ASPH_ENST00000541428.1_Missense_Mutation_p.A353V	NM_004318.3	NP_004309.2	Q12797	ASPH_HUMAN	aspartate beta-hydroxylase	382					activation of cysteine-type endopeptidase activity (GO:0097202)|activation of store-operated calcium channel activity (GO:0032237)|calcium ion transmembrane transport (GO:0070588)|cellular response to calcium ion (GO:0071277)|detection of calcium ion (GO:0005513)|face morphogenesis (GO:0060325)|limb morphogenesis (GO:0035108)|muscle contraction (GO:0006936)|negative regulation of cell proliferation (GO:0008285)|palate development (GO:0060021)|pattern specification process (GO:0007389)|peptidyl-aspartic acid hydroxylation (GO:0042264)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of proteolysis (GO:0045862)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cell communication by electrical coupling (GO:0010649)|regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031585)|regulation of protein depolymerization (GO:1901879)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|response to ATP (GO:0033198)	calcium channel complex (GO:0034704)|cortical endoplasmic reticulum (GO:0032541)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum lumen (GO:0033018)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|electron carrier activity (GO:0009055)|ion channel binding (GO:0044325)|peptide-aspartate beta-dioxygenase activity (GO:0004597)|structural constituent of muscle (GO:0008307)|structural molecule activity (GO:0005198)			breast(1)|cervix(1)|endometrium(5)|large_intestine(5)|lung(16)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35	Lung SC(2;0.153)	Lung NSC(129;0.0358)|all_lung(136;0.0654)|all_epithelial(80;0.101)			L-Aspartic Acid(DB00128)|Succinic acid(DB00139)	GAATACCTGCGCCTTCCCATA	0.378																																						ENST00000541428.1																			0				breast(1)|cervix(1)|endometrium(5)|large_intestine(5)|lung(16)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						c.(1057-1059)gCg>gTg		aspartate beta-hydroxylase	L-Aspartic Acid(DB00128)|Succinic acid(DB00139)						171	153	159					8																	62489335		2203	4300	6503	SO:0001583	missense	444				muscle contraction	integral to endoplasmic reticulum membrane	calcium ion binding|electron carrier activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptide-aspartate beta-dioxygenase activity|structural constituent of muscle	g.chr8:62489335G>A	AF224468	CCDS34898.1, CCDS34899.1, CCDS34900.1, CCDS43742.1, CCDS47866.1, CCDS55234.1, CCDS55235.1, CCDS55236.1, CCDS55237.1, CCDS55238.1, CCDS75746.1	8q12.1	2008-02-05			ENSG00000198363	ENSG00000198363	1.14.11.16		757	protein-coding gene	gene with protein product	"junctin", "humbug", "junctate"	600582				7821814, 10974562	Standard	NM_004318		Approved	CASQ2BP1, BAH, JCTN, HAAH	uc003xuj.3	Q12797	OTTHUMG00000164375	ENST00000379454.4:c.1145C>T	8.37:g.62489335G>A	ENSP00000368767:p.Ala382Val					ASPH_ENST00000379454.4_Missense_Mutation_p.A382V	p.A353V	NM_001164750.1	NP_001158222.1	Q12797	ASPH_HUMAN			16	1218	-	Lung SC(2;0.153)	Lung NSC(129;0.0358)|all_lung(136;0.0654)|all_epithelial(80;0.101)	382					A6NDF4|A6NHI2|B4DIC9|B4E2K4|B7ZM95|E5RGP5|F5H667|Q6NXR7|Q8TB28|Q9H291|Q9H2C4|Q9NRI0|Q9NRI1|Q9Y4J0	Missense_Mutation	SNP	ENST00000379454.4	37	c.1058C>T	CCDS34898.1	.	.	.	.	.	.	.	.	.	.	G	15.42	2.827730	0.50845	.	.	ENSG00000198363	ENST00000389213;ENST00000541428;ENST00000379454;ENST00000522349	T;T;D	0.83506	0.5;0.5;-1.73	4.93	4.93	0.64822	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.85682	D	0.000000	D	0.92071	0.7487	M	0.85041	2.73	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.998;1.0	D	0.93341	0.6710	10	0.87932	D	0	-22.4162	18.1068	0.89523	0.0:0.0:1.0:0.0	.	353;363;382	F5H667;F8W7A9;Q12797	.;.;ASPH_HUMAN	V	363;353;382;135	ENSP00000437864:A353V;ENSP00000368767:A382V;ENSP00000429718:A135V	ENSP00000368767:A382V	A	-	2	0	ASPH	62651889	1.000000	0.71417	0.995000	0.50966	0.065000	0.16274	6.703000	0.74633	2.437000	0.82529	0.561000	0.74099	GCG		0.378	ASPH-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000378510.3	NM_004318		37	62	0	0	0	1	0	37	62					A	62489335	G	A	62489335	3	1	309	1	0	0	0	0	1	0	0	0	1053	1087	38	1	1171	1	ASPH	8	62489335	Missense_Mutation	SNP	G	TCGA-KK-A5A1-01A-11D-A29Q-08	10129617	62489335	83874687	49	15864											
RALYL	138046	broad.mit.edu	37	chr8	85799876	85799876	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttggaagagagtctagtgctGatccaagaggaatgtgtgtc	11	11	14	5	0	1	3	0	1	1	2	3	6	2	5	1	2	1	1	1	2	4	2			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr8:85799876G>T	ENST00000521268.1	+	8	1828	c.723G>T	c.(721-723)ctG>ctT	p.L241L	RALYL_ENST00000517638.1_Silent_p.L254L|RALYL_ENST00000521695.1_Silent_p.L241L|RALYL_ENST00000518566.1_Silent_p.L230L|RALYL_ENST00000523850.1_Silent_p.L168L|RALYL_ENST00000522455.1_Silent_p.L241L|RALYL_ENST00000521376.1_Intron	NM_173848.5	NP_776247.3	Q86SE5	RALYL_HUMAN	RALY RNA binding protein-like	241							nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)	24						GTCTAGTGCTGATCCAAGAGG	0.498																																						ENST00000521268.1																			0				endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)	24						c.(721-723)ctG>ctT		RALY RNA binding protein-like							122	121	122					8																	85799876		1953	4132	6085	SO:0001819	synonymous_variant	138046						identical protein binding|nucleotide binding|RNA binding	g.chr8:85799876G>T		CCDS55252.1, CCDS55253.1, CCDS75760.1, CCDS75761.1	8q21.2	2013-07-16			ENSG00000184672	ENSG00000184672		"RNA binding motif (RRM) containing"	27036	protein-coding gene	gene with protein product		614648				12688537	Standard	NM_001100391		Approved	HNRPCL3	uc003yct.4	Q86SE5	OTTHUMG00000164628	ENST00000521268.1:c.723G>T	8.37:g.85799876G>T						RALYL_ENST00000523850.1_Silent_p.L168L|RALYL_ENST00000518566.1_Silent_p.L230L|RALYL_ENST00000521695.1_Silent_p.L241L|RALYL_ENST00000521376.1_Intron|RALYL_ENST00000517638.1_Silent_p.L254L|RALYL_ENST00000522455.1_Silent_p.L241L	p.L241L	NM_173848.5	NP_776247.3	Q86SE5	RALYL_HUMAN			8	1828	+			241					B3KTH2|G3V129|Q6ZW87|Q8N1C2	Silent	SNP	ENST00000521268.1	37	c.723G>T	CCDS55253.1																																																																																				0.498	RALYL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379448.1			15	108	1	0	4.7546e-09	1	5.69767e-09	15	108					T	85799876	G	T	85799876	2	4	309	1	0	0	0	0	0	0	0	1	13020	1277	45	5		5	RALYL	8	85799876	Silent	SNP	G	TCGA-KK-A5A1-01A-11D-A29Q-08	23310541	85799876	60564146	50	15865											
DCAF13	25879	broad.mit.edu	37	chr8	104442877	104442877	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttgtgcatctgacaggaataTagtactgtacgatatgaggc	12	12	11	6	1	1	2	0	2	1	0	1	4	1	3	0	2	3	3	0	2	6	6			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr8:104442877T>C	ENST00000297579.5	+	6	1395	c.1118T>C	c.(1117-1119)aTa>aCa	p.I373T	DCAF13_ENST00000521999.1_3'UTR	NM_015420.6	NP_056235.4	Q9NV06	DCA13_HUMAN	DDB1 and CUL4 associated factor 13	221					protein ubiquitination (GO:0016567)|rRNA processing (GO:0006364)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(1)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	25						GACAGGAATATAGTACTGTAC	0.368																																						ENST00000297579.5																			0				NS(1)|breast(1)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	25						c.(1117-1119)aTa>aCa		DDB1 and CUL4 associated factor 13							253	244	247					8																	104442877		2203	4300	6503	SO:0001583	missense	25879				rRNA processing	CUL4 RING ubiquitin ligase complex|nucleolus|ribonucleoprotein complex		g.chr8:104442877T>C	AK074725	CCDS34934.1	8q22.3	2013-01-09	2009-07-17	2009-07-17	ENSG00000164934	ENSG00000164934		"WD repeat domain containing", "DDB1 and CUL4 associated factors"	24535	protein-coding gene	gene with protein product			"WD repeats and SOF1 domain containing"	WDSOF1		11042152	Standard	NM_015420		Approved	DKFZP564O0463, Gm83, HSPC064	uc003yln.3	Q9NV06	OTTHUMG00000164888	ENST00000297579.5:c.1118T>C	8.37:g.104442877T>C	ENSP00000297579:p.Ile373Thr					DCAF13_ENST00000521999.1_3'UTR	p.I373T	NM_015420.6	NP_056235.4	Q9NV06	DCA13_HUMAN			6	1395	+			221					Q3MII9|Q8NCH8|Q8TC51|Q96JY7|Q9NZX3	Missense_Mutation	SNP	ENST00000297579.5	37	c.1118T>C	CCDS34934.1	.	.	.	.	.	.	.	.	.	.	T	22.0	4.225545	0.79576	.	.	ENSG00000164934	ENST00000297579	T	0.01902	4.57	5.25	5.25	0.73442	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.044545	0.85682	D	0.000000	T	0.15955	0.0384	M	0.92367	3.3	0.80722	D	1	D	0.58620	0.983	P	0.61328	0.887	T	0.01692	-1.1294	10	0.72032	D	0.01	-25.3862	15.1592	0.72767	0.0:0.0:0.0:1.0	.	221	Q9NV06	DCA13_HUMAN	T	373	ENSP00000297579:I373T	ENSP00000297579:I373T	I	+	2	0	DCAF13	104512053	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	7.499000	0.81566	1.996000	0.58369	0.455000	0.32223	ATA		0.368	DCAF13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380797.2	NM_015420		66	113	0	0	0	1	0	66	113					C	104442877	T	C	104442877	3	2	309	1	0	0	0	0	1	0	0	0	4266	1406	49	4	1140	4	DCAF13	8	104442877	Missense_Mutation	SNP	T	TCGA-KK-A5A1-01A-11D-A29Q-08	18643001	104442877	41921145	51	15866											
TSTD2	158427	broad.mit.edu	37	chr9	100389704	100389705	+	Frame_Shift_Ins	INS	-	-	T																															tctttgcaaacgagtatttcINSttttttgtactgccatctaa																										TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr9:100389704_100389705insT	ENST00000341170.4	-	2	522_523	c.140_141insA	c.(139-141)aagfs	p.K47fs	TSTD2_ENST00000354801.2_5'UTR	NM_139246.4	NP_640339.4	Q5T7W7	TSTD2_HUMAN	thiosulfate sulfurtransferase (rhodanese)-like domain containing 2	47										large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	15						ACGAGTATTTCTTTTTTGTACT	0.342																																						ENST00000341170.4																			0				large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	15						c.(139-141)aaafs		thiosulfate sulfurtransferase (rhodanese)-like domain containing 2																																				SO:0001589	frameshift_variant	158427							g.chr9:100389704_100389705insT	AF258575	CCDS6727.2	9q22.33	2013-09-20	2009-08-12	2009-08-12	ENSG00000136925	ENSG00000136925			30087	protein-coding gene	gene with protein product			"chromosome 9 open reading frame 97"	C9orf97		12477932	Standard	NM_139246		Approved	PP4189	uc004axn.3	Q5T7W7	OTTHUMG00000020328	ENST00000341170.4:c.141dupA	9.37:g.100389710_100389710dupT	ENSP00000342499:p.Lys47fs					TSTD2_ENST00000375172.2_5'UTR|TSTD2_ENST00000354801.2_5'UTR	p.K47fs	NM_139246.4	NP_640339.4	Q5T7W7	TSTD2_HUMAN			2	522_523	-			47					A6NMJ4|A8K584|Q6ZQZ6|Q8IYM3|Q8WY73|Q96ML6|Q96MU1	Frame_Shift_Ins	INS	ENST00000341170.4	37	c.140_141insA	CCDS6727.2																																																																																				0.342	TSTD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053325.4	NM_139246		23	70						23	70	---	---	---	---	T	100389705	-	T	100389704	7	5	309	1	0	1	1	0	0	0	0	0	16672	912	32	0	1445	0	TSTD2	9	100389704	Frame_Shift_Ins	INS	-	TCGA-KK-A5A1-01A-11D-A29Q-08		100389704	40823727	52	15867											
LHX2	9355	broad.mit.edu	37	chr9	126783459	126783459	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccagaagaccaagcgcatgcGcacgtccttcaagcaccacc	12	4	8	17	3	1	2	1	0	0	2	2	2	2	2	5	0	3	3	5	0	3	1			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr9:126783459G>A	ENST00000373615.4	+	4	1548	c.809G>A	c.(808-810)cGc>cAc	p.R270H		NM_004789.3	NP_004780.3	P50458	LHX2_HUMAN	LIM homeobox 2	270					axon extension (GO:0048675)|axon guidance (GO:0007411)|cerebral cortex development (GO:0021987)|dorsal/ventral pattern formation (GO:0009953)|mesoderm development (GO:0007498)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|neural tube closure (GO:0001843)|olfactory bulb development (GO:0021772)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|retina development in camera-type eye (GO:0060041)|telencephalon regionalization (GO:0021978)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)	10						AAGCGCATGCGCACGTCCTTC	0.572																																						ENST00000373615.4																			0				endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)	10						c.(808-810)cGc>cAc		LIM homeobox 2							121	102	108					9																	126783459		2203	4300	6503	SO:0001583	missense	9355					nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr9:126783459G>A	U11701	CCDS6853.1	9q33.3	2011-06-20			ENSG00000106689	ENSG00000106689		"Homeoboxes / LIM class"	6594	protein-coding gene	gene with protein product		603759				8649822, 10051612	Standard	NM_004789		Approved	LH-2, hLhx2	uc004boe.1	P50458	OTTHUMG00000020647	ENST00000373615.4:c.809G>A	9.37:g.126783459G>A	ENSP00000362717:p.Arg270His						p.R270H	NM_004789.3	NP_004780.3	P50458	LHX2_HUMAN			4	1548	+			270					O95860|Q52M57|Q8N1Z3	Missense_Mutation	SNP	ENST00000373615.4	37	c.809G>A	CCDS6853.1	.	.	.	.	.	.	.	.	.	.	G	34	5.314707	0.95655	.	.	ENSG00000106689	ENST00000373615	D	0.99167	-5.51	5.39	5.39	0.77823	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	D	0.99533	0.9833	H	0.95470	3.675	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.998;1.0	D	0.98145	1.0438	10	0.87932	D	0	.	18.1159	0.89555	0.0:0.0:1.0:0.0	.	270;270	B3KNJ5;P50458	.;LHX2_HUMAN	H	270	ENSP00000362717:R270H	ENSP00000362717:R270H	R	+	2	0	LHX2	125823280	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.471000	0.97696	2.511000	0.84671	0.561000	0.74099	CGC		0.572	LHX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054010.2			7	92	0	0	0	1	0	7	92					A	126783459	G	A	126783459	3	1	309	1	0	0	0	0	1	0	0	0	8771	1087	38	1	823	1	LHX2	9	126783459	Missense_Mutation	SNP	G	TCGA-KK-A5A1-01A-11D-A29Q-08	26393755	126783459	14429972	53	15868											
CCBL1	883	broad.mit.edu	37	chr9	131600404	131600404	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtagcagtcaaaaaagggttCgatgatgatgacctgatata	15	10	11	5	1	1	4	1	4	0	0	2	5	1	4	1	1	1	3	1	1	6	4			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr9:131600404C>A	ENST00000302586.3	-	5	526	c.364G>T	c.(364-366)Gaa>Taa	p.E122*	CCBL1_ENST00000320665.6_Nonsense_Mutation_p.E72*|CCBL1_ENST00000436267.2_Nonsense_Mutation_p.E216*|CCBL1_ENST00000483599.1_5'UTR	NM_001122671.1|NM_004059.4	NP_001116143.1|NP_004050.3	Q16773	KAT1_HUMAN	cysteine conjugate-beta lyase, cytoplasmic	122					cellular amino acid biosynthetic process (GO:0008652)|cellular modified amino acid metabolic process (GO:0006575)|cellular nitrogen compound metabolic process (GO:0034641)|kynurenine metabolic process (GO:0070189)|L-kynurenine catabolic process (GO:0097053)|L-phenylalanine catabolic process (GO:0006559)|small molecule metabolic process (GO:0044281)|tryptophan catabolic process (GO:0006569)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	cysteine-S-conjugate beta-lyase activity (GO:0047804)|glutamine-phenylpyruvate transaminase activity (GO:0047316)|kynurenine-oxoglutarate transaminase activity (GO:0016212)|L-glutamine:pyruvate aminotransferase activity (GO:0047945)|L-phenylalanine-oxaloacetate transaminase activity (GO:0036141)|L-phenylalanine:pyruvate aminotransferase activity (GO:0047312)|protein homodimerization activity (GO:0042803)|pyridoxal phosphate binding (GO:0030170)|transaminase activity (GO:0008483)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(1)	18					L-Glutamine(DB00130)	AAAAAGGGTTCGATGATGATG	0.532																																						ENST00000436267.2																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(1)	18						c.(646-648)Gaa>Taa		cysteine conjugate-beta lyase, cytoplasmic	L-Glutamine(DB00130)|Pyridoxal Phosphate(DB00114)						158	166	164					9																	131600404		2202	4296	6498	SO:0001587	stop_gained	883				kynurenine metabolic process|L-phenylalanine catabolic process|tryptophan catabolic process	cytosol|nucleus	1-aminocyclopropane-1-carboxylate synthase activity|cysteine-S-conjugate beta-lyase activity|glutamine-phenylpyruvate transaminase activity|kynurenine-oxoglutarate transaminase activity|L-glutamine:pyruvate aminotransferase activity|L-phenylalanine:pyruvate aminotransferase activity|protein homodimerization activity|pyridoxal phosphate binding	g.chr9:131600404C>A	Y17448	CCDS43884.1, CCDS48038.1, CCDS75915.1	9q34.11	2008-03-11	2008-03-11		ENSG00000171097	ENSG00000171097	2.6.1.64		1564	protein-coding gene	gene with protein product	"glutamine transaminase K", "kyneurenine aminotransferase"	600547	"cysteine conjugate-beta lyase; cytoplasmic (glutamine transaminase K, kyneurenine aminotransferase)"			7883047	Standard	NM_001122671		Approved	KATI, GTK	uc004bwh.3	Q16773	OTTHUMG00000020767	ENST00000302586.3:c.364G>T	9.37:g.131600404C>A	ENSP00000302227:p.Glu122*					CCBL1_ENST00000320665.6_Nonsense_Mutation_p.E72*|CCBL1_ENST00000483599.1_5'UTR|CCBL1_ENST00000302586.3_Nonsense_Mutation_p.E122*	p.E216*			Q16773	KAT1_HUMAN			7	795	-			122					Q5T275|Q8N191	Nonsense_Mutation	SNP	ENST00000302586.3	37	c.646G>T	CCDS43884.1	.	.	.	.	.	.	.	.	.	.	C	36	5.710630	0.96821	.	.	ENSG00000171097	ENST00000302586;ENST00000320665;ENST00000436267;ENST00000451800;ENST00000416084	.	.	.	5.12	5.12	0.69794	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-8.0474	17.1509	0.86778	0.0:1.0:0.0:0.0	.	.	.	.	X	122;72;216;122;122	.	ENSP00000302227:E122X	E	-	1	0	CCBL1	130640225	1.000000	0.71417	0.863000	0.33907	0.957000	0.61999	5.117000	0.64667	2.378000	0.81104	0.650000	0.86243	GAA		0.532	CCBL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054521.2			17	303	1	0	2.23348e-06	1	2.53012e-06	17	303					A	131600404	C	A	131600404	4	1	309	1	0	0	0	0	0	1	0	0	2732	893	31	5	940	5	CCBL1	9	131600404	Nonsense_Mutation	SNP	C	TCGA-KK-A5A1-01A-11D-A29Q-08	4816945	131600404	9613027	54	15869											
NOTCH1	4851	broad.mit.edu	37	chr9	139391807	139391807	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agggtgggcgtgccccccagCggggctccgtgcagctgcgg	3	5	19	14	4	0	0	0	0	0	0	1	0	1	0	4	5	5	3	4	5	0	0			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr9:139391807C>T	ENST00000277541.6	-	34	6459	c.6384G>A	c.(6382-6384)ccG>ccA	p.P2128P		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	2128					anagen (GO:0042640)|aortic valve morphogenesis (GO:0003180)|apoptotic process involved in embryonic digit morphogenesis (GO:1902263)|arterial endothelial cell differentiation (GO:0060842)|atrioventricular node development (GO:0003162)|atrioventricular valve morphogenesis (GO:0003181)|auditory receptor cell fate commitment (GO:0009912)|axonogenesis (GO:0007409)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac atrium morphogenesis (GO:0003209)|cardiac chamber formation (GO:0003207)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac left ventricle morphogenesis (GO:0003214)|cardiac muscle cell proliferation (GO:0060038)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac right atrium morphogenesis (GO:0003213)|cardiac right ventricle formation (GO:0003219)|cardiac septum morphogenesis (GO:0060411)|cardiac vascular smooth muscle cell development (GO:0060948)|cardiac ventricle morphogenesis (GO:0003208)|cell fate specification (GO:0001708)|cell migration involved in endocardial cushion formation (GO:0003273)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|cilium morphogenesis (GO:0060271)|collecting duct development (GO:0072044)|compartment pattern specification (GO:0007386)|coronary artery morphogenesis (GO:0060982)|coronary vein morphogenesis (GO:0003169)|determination of left/right symmetry (GO:0007368)|distal tubule development (GO:0072017)|embryonic hindlimb morphogenesis (GO:0035116)|endocardial cell differentiation (GO:0060956)|endocardial cushion morphogenesis (GO:0003203)|endocardium development (GO:0003157)|endocardium morphogenesis (GO:0003160)|endoderm development (GO:0007492)|epithelial to mesenchymal transition (GO:0001837)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|forebrain development (GO:0030900)|foregut morphogenesis (GO:0007440)|gene expression (GO:0010467)|glial cell differentiation (GO:0010001)|glomerular mesangial cell development (GO:0072144)|growth involved in heart morphogenesis (GO:0003241)|hair follicle morphogenesis (GO:0031069)|heart development (GO:0007507)|heart looping (GO:0001947)|heart trabecula morphogenesis (GO:0061384)|humoral immune response (GO:0006959)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|keratinocyte differentiation (GO:0030216)|left/right axis specification (GO:0070986)|liver development (GO:0001889)|lung development (GO:0030324)|mesenchymal cell development (GO:0014031)|mitral valve formation (GO:0003192)|negative regulation of anoikis (GO:2000811)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of endothelial cell chemotaxis (GO:2001027)|negative regulation of glial cell proliferation (GO:0060253)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of neurogenesis (GO:0050768)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of ossification (GO:0030279)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of photoreceptor cell differentiation (GO:0046533)|negative regulation of pro-B cell differentiation (GO:2000974)|negative regulation of stem cell differentiation (GO:2000737)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|Notch signaling pathway involved in regulation of secondary heart field cardioblast proliferation (GO:0003270)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061419)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland epithelium morphogenesis (GO:0060740)|pulmonary valve morphogenesis (GO:0003184)|regulation of epithelial cell proliferation involved in prostate gland development (GO:0060768)|regulation of extracellular matrix assembly (GO:1901201)|regulation of somitogenesis (GO:0014807)|regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003256)|regulation of transcription, DNA-templated (GO:0006355)|response to muramyl dipeptide (GO:0032495)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell division (GO:0048103)|sprouting angiogenesis (GO:0002040)|transcription initiation from RNA polymerase II promoter (GO:0006367)|tube formation (GO:0035148)|vasculogenesis involved in coronary vascular morphogenesis (GO:0060979)|venous endothelial cell differentiation (GO:0060843)|ventricular septum morphogenesis (GO:0060412)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|MAML1-RBP-Jkappa- ICN1 complex (GO:0002193)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|receptor activity (GO:0004872)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		TGCCCCCCAGCGGGGCTCCGT	0.706			"T, Mis, O"	TRB@	T-ALL					HNSCC(8;0.001)																												ENST00000277541.6				Dom	yes		9	9q34.3	4851	"T, Mis, O"	"Notch homolog 1, translocation-associated (Drosophila) (TAN1)"			L	TRB@		T-ALL		0				breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359						c.(6382-6384)ccG>ccA		notch 1							25	27	26					9																	139391807		2103	4208	6311	SO:0001819	synonymous_variant	4851				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	g.chr9:139391807C>T	AF308602	CCDS43905.1	9q34.3	2013-01-10	2010-06-24		ENSG00000148400	ENSG00000148400		"Ankyrin repeat domain containing"	7881	protein-coding gene	gene with protein product		190198	"Notch (Drosophila) homolog 1 (translocation-associated)", "Notch homolog 1, translocation-associated (Drosophila)"	TAN1		1831692	Standard	NM_017617		Approved		uc004chz.3	P46531	OTTHUMG00000020935	ENST00000277541.6:c.6384G>A	9.37:g.139391807C>T		HNSCC(8;0.001)					p.P2128P	NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)	34	6459	-	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)	2128					Q59ED8|Q5SXM3	Silent	SNP	ENST00000277541.6	37	c.6384G>A	CCDS43905.1																																																																																				0.706	NOTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055087.1	NM_017617		4	61	0	0	0	1	0	4	61					T	139391807	C	T	139391807	2	4	309	1	0	0	0	0	0	0	0	1	10547	755	27	1		1	NOTCH1	9	139391807	Silent	SNP	C	TCGA-KK-A5A1-01A-11D-A29Q-08	7791403	139391807	1821624	55	15870											
PRF1	5551	broad.mit.edu	37	chr10	72358721	72358721	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtcaggcagtcctccacctcGttgtccgtgagcccttccag	5	10	10	16	2	1	1	1	1	0	0	6	1	5	1	6	1	1	2	6	1	0	2	rs150053969		TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr10:72358721G>A	ENST00000441259.1	-	3	916	c.756C>T	c.(754-756)aaC>aaT	p.N252N	PRF1_ENST00000373209.2_Silent_p.N252N	NM_001083116.1|NM_005041.4	NP_001076585.1|NP_005032.2	P14222	PERF_HUMAN	perforin 1 (pore forming protein)	252	MACPF. {ECO:0000255|PROSITE- ProRule:PRU00745}.		N -> S (in FHL2; dbSNP:rs28933375). {ECO:0000269|PubMed:10583959}.		apoptotic process (GO:0006915)|cellular defense response (GO:0006968)|cytolysis (GO:0019835)|defense response to tumor cell (GO:0002357)|defense response to virus (GO:0051607)|immune response to tumor cell (GO:0002418)|protein homooligomerization (GO:0051260)|transmembrane transport (GO:0055085)	cytolytic granule (GO:0044194)|cytoplasmic membrane-bounded vesicle (GO:0016023)|endosome (GO:0005768)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|wide pore channel activity (GO:0022829)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(3)|urinary_tract(3)	23						CCTCCACCTCGTTGTCCGTGA	0.637			M			"various leukaemia, lymphoma"	Type 2 familial hemophagocytic lymphohistiocytosis		Familial Hemophagocytic Lymphohistiocytosis																													ENST00000441259.1			yes	Rec			10	10q22	5551	M	perforin 1 (pore forming protein)		Type 2 familial hemophagocytic lymphohistiocytosis	L		"various leukaemia, lymphoma"			0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(3)|urinary_tract(3)	23						c.(754-756)aaC>aaT		perforin 1 (pore forming protein)		G	,	0,4406		0,0,2203	125	88	101		756,756	-6.4	0	10	dbSNP_134	101	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous,coding-synonymous	PRF1	NM_001083116.1,NM_005041.4	,	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	,	252/556,252/556	72358721	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	5551	Familial Hemophagocytic Lymphohistiocytosis	Familial Cancer Database	FHLH, FHL, Familial Hemophagocytic Reticulosis, FHR	apoptosis|cellular defense response|cytolysis|defense response to tumor cell|defense response to virus|immune response to tumor cell|protein homooligomerization	cytolytic granule|endosome lumen|extracellular region|integral to membrane|plasma membrane	calcium ion binding|protein binding|wide pore channel activity	g.chr10:72358721G>A	BC047695	CCDS7305.1	10q22	2014-09-17			ENSG00000180644	ENSG00000180644			9360	protein-coding gene	gene with protein product	"Perforin", "perforin 1 (preforming protein)"	170280				1505959, 2592021	Standard	NM_005041		Approved	PFP, P1, HPLH2	uc001jrf.4	P14222	OTTHUMG00000018412	ENST00000441259.1:c.756C>T	10.37:g.72358721G>A						PRF1_ENST00000373209.2_Silent_p.N252N	p.N252N	NM_001083116.1|NM_005041.4	NP_001076585.1|NP_005032.2	P14222	PERF_HUMAN			3	916	-			252		N -> S (in FHL2; dbSNP:rs28933375).	MACPF.		B2R6X4|Q59F57|Q86WX7	Silent	SNP	ENST00000441259.1	37	c.756C>T	CCDS7305.1																																																																																				0.637	PRF1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048517.2	NM_005041		11	69	0	0	0	1	0	11	69					A	72358721	G	A	72358721	2	1	309	1	0	0	0	0	0	0	0	1	12478	1136	40	1		1	PRF1	10	72358721	Silent	SNP	G	TCGA-KK-A5A1-01A-11D-A29Q-08		72358721	63176026	56	15871											
P4HA1	5033	broad.mit.edu	37	chr10	74804782	74804782	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cgtctccaagtctcctgttaTtgggtttgaaatggtggctc	6	15	11	9	1	2	1	0	1	2	0	5	1	2	1	2	3	0	3	2	3	3	3	rs201139791		TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr10:74804782T>C	ENST00000307116.2	-	9	1221	c.1105A>G	c.(1105-1107)Ata>Gta	p.I369V	P4HA1_ENST00000412021.2_Missense_Mutation_p.I369V|P4HA1_ENST00000394890.2_Missense_Mutation_p.I369V|P4HA1_ENST00000373008.2_Intron|P4HA1_ENST00000263556.3_Intron|P4HA1_ENST00000440381.1_Intron			P13674	P4HA1_HUMAN	prolyl 4-hydroxylase, alpha polypeptide I	369					collagen fibril organization (GO:0030199)|peptidyl-proline hydroxylation to 4-hydroxy-L-proline (GO:0018401)	endoplasmic reticulum (GO:0005783)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrion (GO:0005739)|procollagen-proline 4-dioxygenase complex (GO:0016222)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen (GO:0016702)|procollagen-proline 4-dioxygenase activity (GO:0004656)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)	15	Prostate(51;0.0198)				Hydralazine(DB01275)|L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	TCTCCTGTTATTGGGTTTGAA	0.388																																					Colon(147;367 2405 2662 52127)	ENST00000412021.2																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)	15						c.(1105-1107)Ata>Gta		prolyl 4-hydroxylase, alpha polypeptide I	Hydralazine(DB01275)|L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	T	,VAL/ILE,VAL/ILE,	3,3717		0,3,1857	138	134	135		,1105,1105,	3.5	1	10		135	0,8214		0,0,4107	yes	intron,missense,missense,intron	P4HA1	NM_000917.3,NM_001017962.2,NM_001142595.1,NM_001142596.1	,29,29,	0,3,5964	CC,CT,TT		0.0,0.0806,0.0251	,,,	,369/535,369/535,	74804782	3,11931	1860	4107	5967	SO:0001583	missense	5033					endoplasmic reticulum lumen|mitochondrion	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 4-dioxygenase activity	g.chr10:74804782T>C		CCDS7320.1, CCDS41537.1, CCDS44432.1	10q21.3-q23.1	2008-12-09	2008-12-09		ENSG00000122884	ENSG00000122884	1.14.11.2		8546	protein-coding gene	gene with protein product	"collagen prolyl 4-hydroxylase alpha(I)"	176710	"procollagen-proline, 2-oxoglutarate 4-dioxygenase (proline 4-hydroxylase), alpha polypeptide I"	P4HA		2556027	Standard	NM_001017962		Approved	C-P4Halpha(I)	uc001jtg.3	P13674	OTTHUMG00000018449	ENST00000307116.2:c.1105A>G	10.37:g.74804782T>C	ENSP00000307318:p.Ile369Val					P4HA1_ENST00000307116.2_Missense_Mutation_p.I369V|P4HA1_ENST00000440381.1_Intron|P4HA1_ENST00000394890.2_Missense_Mutation_p.I369V|P4HA1_ENST00000373008.2_Intron|P4HA1_ENST00000263556.3_Intron	p.I369V	NM_001142595.1	NP_001136067.1	P13674	P4HA1_HUMAN			10	1438	-	Prostate(51;0.0198)		369					C9JL12|Q15082|Q15083|Q5VSQ5	Missense_Mutation	SNP	ENST00000307116.2	37	c.1105A>G		.	.	.	.	.	.	.	.	.	.	T	9.902	1.207067	0.22205	8.06E-4	0.0	ENSG00000122884	ENST00000307116;ENST00000412021;ENST00000394890	T;T;T	0.41065	1.01;1.01;1.01	5.86	3.55	0.40652	Prolyl 4-hydroxylase, alpha subunit (1);	.	.	.	.	T	0.22360	0.0539	N	0.11064	0.09	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.03829	-1.1000	9	0.24483	T	0.36	.	9.6864	0.40100	0.0:0.142:0.0:0.858	.	369	P13674	P4HA1_HUMAN	V	369	ENSP00000307318:I369V;ENSP00000411688:I369V;ENSP00000378353:I369V	ENSP00000307318:I369V	I	-	1	0	P4HA1	74474788	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.701000	0.54793	0.490000	0.27771	0.533000	0.62120	ATA		0.388	P4HA1-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000048601.1	NM_000917		9	53	0	0	0	1	0	9	53					C	74804782	T	C	74804782	3	2	309	1	0	0	0	0	1	0	0	0	11356	1493	52	4	602	4	P4HA1	10	74804782	Missense_Mutation	SNP	T	TCGA-KK-A5A1-01A-11D-A29Q-08	2446061	74804782	60729965	57	15872											
PSD	5662	broad.mit.edu	37	chr10	104173704	104173704	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcaagaggggcaagtggggCgggagctggtgggtcgggcc	6	6	22	7	2	1	1	1	0	0	1	2	2	1	2	1	8	1	2	1	8	2	1			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr10:104173704C>T	ENST00000020673.5	-	5	1901	c.1375G>A	c.(1375-1377)Gcc>Acc	p.A459T	PSD_ENST00000492902.2_5'Flank|PSD_ENST00000406432.1_Missense_Mutation_p.A459T	NM_001270966.1|NM_002779.4	NP_001257895.1|NP_002770.3	A5PKW4	PSD1_HUMAN	pleckstrin and Sec7 domain containing	459	Pro-rich.				neuron differentiation (GO:0030182)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cell projection (GO:0042995)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|phospholipid binding (GO:0005543)|signal transducer activity (GO:0004871)			breast(4)|endometrium(2)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				Epithelial(162;1.27e-08)|all cancers(201;2.85e-07)		GCAAGTGGGGCGGGAGCTGGT	0.657																																						ENST00000020673.5																			0				breast(4)|endometrium(2)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						c.(1375-1377)Gcc>Acc		pleckstrin and Sec7 domain containing							36	44	42					10																	104173704		2203	4298	6501	SO:0001583	missense	5662				regulation of ARF protein signal transduction	cytoplasm|plasma membrane|ruffle	ARF guanyl-nucleotide exchange factor activity|signal transducer activity	g.chr10:104173704C>T	X99688	CCDS31272.1, CCDS73187.1	10q24	2013-01-10	2004-04-28		ENSG00000059915	ENSG00000059915		"Pleckstrin homology (PH) domain containing"	9507	protein-coding gene	gene with protein product		602327	"pleckstrin and Sec7 domain protein"			9417912	Standard	NM_002779		Approved	KIAA2011, TYL, PSD1	uc009xxd.2	A5PKW4	OTTHUMG00000018954	ENST00000020673.5:c.1375G>A	10.37:g.104173704C>T	ENSP00000020673:p.Ala459Thr					PSD_ENST00000406432.1_Missense_Mutation_p.A459T	p.A459T	NM_001270966.1|NM_002779.3	NP_001257895.1|NP_002770.3	A5PKW4	PSD1_HUMAN		Epithelial(162;1.27e-08)|all cancers(201;2.85e-07)	5	1901	-			459			Pro-rich.		B1AKX7|D3DR87|Q15673|Q8IVG0	Missense_Mutation	SNP	ENST00000020673.5	37	c.1375G>A	CCDS31272.1	.	.	.	.	.	.	.	.	.	.	C	15.49	2.847795	0.51164	.	.	ENSG00000059915	ENST00000020673;ENST00000541902;ENST00000406432	T;T	0.49720	0.77;0.77	4.78	4.78	0.61160	.	0.277670	0.29396	N	0.012273	T	0.31544	0.0800	L	0.27053	0.805	0.35766	D	0.820535	P	0.35551	0.509	B	0.20184	0.028	T	0.37314	-0.9711	10	0.19147	T	0.46	.	17.8792	0.88835	0.0:1.0:0.0:0.0	.	459	A5PKW4	PSD1_HUMAN	T	459;362;459	ENSP00000020673:A459T;ENSP00000384830:A459T	ENSP00000020673:A459T	A	-	1	0	PSD	104163694	1.000000	0.71417	0.995000	0.50966	0.271000	0.26615	5.034000	0.64152	2.224000	0.72417	0.555000	0.69702	GCC		0.657	PSD-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050041.2			12	141	0	0	0	1	0	12	141					T	104173704	C	T	104173704	3	4	309	1	0	0	0	0	1	0	0	0	12646	768	27	1	1751	1	PSD	10	104173704	Missense_Mutation	SNP	C	TCGA-KK-A5A1-01A-11D-A29Q-08	29368922	104173704	31361043	58	15873											
GPAM	57678	broad.mit.edu	37	chr10	113920533	113920534	+	Frame_Shift_Ins	INS	-	-	A																															gcatgcattactacatcttcINStgaatttcctgagaacccca																										TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr10:113920533_113920534insA	ENST00000348367.4	-	16	1784_1785	c.1587_1588insT	c.(1585-1590)tcagaafs	p.E530fs	GPAM_ENST00000423155.1_Frame_Shift_Ins_p.E530fs|GPAM_ENST00000369425.1_Frame_Shift_Ins_p.E530fs			Q9HCL2	GPAT1_HUMAN	glycerol-3-phosphate acyltransferase, mitochondrial	530					acyl-CoA metabolic process (GO:0006637)|CDP-diacylglycerol biosynthetic process (GO:0016024)|cellular lipid metabolic process (GO:0044255)|defense response to virus (GO:0051607)|fatty acid homeostasis (GO:0055089)|fatty acid metabolic process (GO:0006631)|glycerophospholipid biosynthetic process (GO:0046474)|interleukin-2 secretion (GO:0070970)|negative regulation of activation-induced cell death of T cells (GO:0070236)|phosphatidic acid biosynthetic process (GO:0006654)|phospholipid homeostasis (GO:0055091)|phospholipid metabolic process (GO:0006644)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of multicellular organism growth (GO:0040018)|regulation of cytokine secretion (GO:0050707)|response to glucose (GO:0009749)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial outer membrane (GO:0005741)|plasma membrane (GO:0005886)	glycerol-3-phosphate O-acyltransferase activity (GO:0004366)			breast(2)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31				Epithelial(162;0.0306)|all cancers(201;0.123)		ACTACATCTTCTGAATTTCCTG	0.446																																					Ovarian(161;1017 2606 18293 52943)	ENST00000348367.4																			0				breast(2)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						c.(1585-1590)tcaagafs		glycerol-3-phosphate acyltransferase, mitochondrial																																				SO:0001589	frameshift_variant	57678				phospholipid biosynthetic process|triglyceride biosynthetic process	integral to membrane|mitochondrial outer membrane	glycerol-3-phosphate O-acyltransferase activity	g.chr10:113920533_113920534insA	AL832464	CCDS7570.1	10q25.3	2009-07-15			ENSG00000119927	ENSG00000119927			24865	protein-coding gene	gene with protein product	"glycerol-3-phosphate acyltransferase 1, mitochondrial"	602395				10997877, 8369314	Standard	NM_020918		Approved	KIAA1560, MGC26846, GPAT1	uc001kzp.3	Q9HCL2	OTTHUMG00000019055	ENST00000348367.4:c.1587_1588insT	10.37:g.113920533_113920534insA	ENSP00000265276:p.Glu530fs					GPAM_ENST00000423155.1_Frame_Shift_Ins_p.R530fs|GPAM_ENST00000369425.1_Frame_Shift_Ins_p.R530fs	p.R530fs			Q9HCL2	GPAT1_HUMAN		Epithelial(162;0.0306)|all cancers(201;0.123)	16	1784_1785	-			530					Q5VW51|Q86TA3	Frame_Shift_Ins	INS	ENST00000348367.4	37	c.1587_1588insT	CCDS7570.1																																																																																				0.446	GPAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050377.1	NM_020918		18	45						18	45	---	---	---	---	A	113920534	-	A	113920533	7	5	309	1	0	1	1	0	0	0	0	0	6588	922	32	0	926	0	GPAM	10	113920533	Frame_Shift_Ins	INS	-	TCGA-KK-A5A1-01A-11D-A29Q-08	9746829	113920533	21614214	59	15874											
OR52E4	390081	broad.mit.edu	37	chr11	5906107	5906107	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttggcctgtgcacccattaaGatcaacataatctatgggct	11	12	8	10	0	2	1	1	0	1	1	2	1	2	1	2	2	2	2	2	2	4	4			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr11:5906107G>T	ENST00000316987.2	+	1	607	c.585G>T	c.(583-585)aaG>aaT	p.K195N		NM_001005165.1	NP_001005165.1	Q8NGH9	O52E4_HUMAN	olfactory receptor, family 52, subfamily E, member 4	195						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(2)|prostate(1)|skin(2)	30		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.24e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CACCCATTAAGATCAACATAA	0.453																																						ENST00000316987.2																			0				autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(2)|prostate(1)|skin(2)	30						c.(583-585)aaG>aaT		olfactory receptor, family 52, subfamily E, member 4							237	209	218					11																	5906107		2201	4296	6497	SO:0001583	missense	390081				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5906107G>T	AB065817	CCDS31401.1	11p15.4	2012-08-09			ENSG00000180974	ENSG00000180974		"GPCR / Class A : Olfactory receptors"	15213	protein-coding gene	gene with protein product							Standard	NM_001005165		Approved		uc010qzs.2	Q8NGH9	OTTHUMG00000168804	ENST00000316987.2:c.585G>T	11.37:g.5906107G>T	ENSP00000321426:p.Lys195Asn						p.K195N	NM_001005165.1	NP_001005165.1	Q8NGH9	O52E4_HUMAN		Epithelial(150;1.24e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	607	+		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)	195					Q6IFG0	Missense_Mutation	SNP	ENST00000316987.2	37	c.585G>T	CCDS31401.1	.	.	.	.	.	.	.	.	.	.	G	9.295	1.051643	0.19827	.	.	ENSG00000180974	ENST00000316987	T	0.00152	8.66	5.15	1.14	0.20703	GPCR, rhodopsin-like superfamily (1);	0.318671	0.23017	N	0.052899	T	0.00210	0.0006	M	0.70903	2.155	0.09310	N	1	P	0.35050	0.482	P	0.44647	0.456	T	0.26224	-1.0109	10	0.59425	D	0.04	.	4.4969	0.11842	0.3293:0.2926:0.3781:0.0	.	195	Q8NGH9	O52E4_HUMAN	N	195	ENSP00000321426:K195N	ENSP00000321426:K195N	K	+	3	2	OR52E4	5862683	0.000000	0.05858	0.011000	0.14972	0.313000	0.28021	-1.250000	0.02885	0.054000	0.16065	-0.148000	0.13756	AAG		0.453	OR52E4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401146.1	NM_001005165		13	161	1	0	2.27111e-07	1	2.65573e-07	13	161					T	5906107	G	T	5906107	3	4	309	1	0	0	0	0	1	0	0	0	11116	933	33	5	587	5	OR52E4	11	5906107	Missense_Mutation	SNP	G	TCGA-KK-A5A1-01A-11D-A29Q-08		5906107	129100409	60	15875											
TUB	7275	broad.mit.edu	37	chr11	8120328	8120328	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caacttgatgggcaccaagtTcactgtttatgacaatggag	12	11	10	8	0	1	2	1	2	0	0	1	3	1	3	1	2	1	3	1	2	4	4			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr11:8120328T>C	ENST00000299506.2	+	9	1171	c.1022T>C	c.(1021-1023)tTc>tCc	p.F341S	TUB_ENST00000305253.4_Missense_Mutation_p.F396S|TUB_ENST00000534099.1_Missense_Mutation_p.F347S	NM_177972.2	NP_813977.1	P50607	TUB_HUMAN	tubby bipartite transcription factor	341					multicellular organismal macromolecule metabolic process (GO:0044259)|phagocytosis (GO:0006909)|phototransduction (GO:0007602)|positive regulation of phagocytosis (GO:0050766)|response to hormone (GO:0009725)|retina development in camera-type eye (GO:0060041)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	G-protein coupled photoreceptor activity (GO:0008020)|protein complex binding (GO:0032403)			breast(1)|cervix(1)|endometrium(9)|large_intestine(7)|lung(5)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	26		all_lung(207;6.91e-20)|Lung NSC(207;3.36e-17)		Epithelial(150;1.69e-62)|BRCA - Breast invasive adenocarcinoma(625;8.54e-06)|LUSC - Lung squamous cell carcinoma(625;0.000184)		GGCACCAAGTTCACTGTTTAT	0.502											OREG0020732	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000305253.4																			0				breast(1)|cervix(1)|endometrium(9)|large_intestine(7)|lung(5)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	26						c.(1186-1188)tTc>tCc		tubby bipartite transcription factor							185	163	171					11																	8120328		2201	4296	6497	SO:0001583	missense	7275				phagocytosis|positive regulation of phagocytosis|response to stimulus	cytoplasm|extracellular region|nucleus|plasma membrane		g.chr11:8120328T>C	U54644	CCDS7786.1, CCDS7787.1	11p15.5	2013-08-06	2013-08-06		ENSG00000166402	ENSG00000166402			12406	protein-coding gene	gene with protein product		601197	"tubby (mouse) homolog", "tubby homolog (mouse)"			8612280	Standard	NM_003320		Approved	rd5	uc001mfy.3	P50607	OTTHUMG00000165690	ENST00000299506.2:c.1022T>C	11.37:g.8120328T>C	ENSP00000299506:p.Phe341Ser		OREG0020732	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	646	TUB_ENST00000534099.1_Missense_Mutation_p.F347S|TUB_ENST00000299506.2_Missense_Mutation_p.F341S	p.F396S	NM_003320.4	NP_003311.2	P50607	TUB_HUMAN		Epithelial(150;1.69e-62)|BRCA - Breast invasive adenocarcinoma(625;8.54e-06)|LUSC - Lung squamous cell carcinoma(625;0.000184)	10	1428	+		all_lung(207;6.91e-20)|Lung NSC(207;3.36e-17)	341					D3DQU4|O00293|Q6B007	Missense_Mutation	SNP	ENST00000299506.2	37	c.1187T>C	CCDS7787.1	.	.	.	.	.	.	.	.	.	.	T	24.5	4.536420	0.85812	.	.	ENSG00000166402	ENST00000534099;ENST00000305253;ENST00000299506	D;D;D	0.98221	-4.8;-4.8;-4.8	5.12	5.12	0.69794	Tubby, C-terminal (4);	0.000000	0.85682	D	0.000000	D	0.99221	0.9729	H	0.94964	3.605	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.99072	1.0834	10	0.87932	D	0	-13.9319	15.211	0.73225	0.0:0.0:0.0:1.0	.	347;341;396	E9PQR4;P50607;P50607-2	.;TUB_HUMAN;.	S	347;396;341	ENSP00000434400:F347S;ENSP00000305426:F396S;ENSP00000299506:F341S	ENSP00000299506:F341S	F	+	2	0	TUB	8076904	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.040000	0.89188	2.040000	0.60383	0.454000	0.30748	TTC		0.502	TUB-003	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385823.1	NM_003320		25	144	0	0	0	1	0	25	144					C	8120328	T	C	8120328	3	2	309	1	0	0	0	0	1	0	0	0	16739	1783	62	4	1267	4	TUB	11	8120328	Missense_Mutation	SNP	T	TCGA-KK-A5A1-01A-11D-A29Q-08	2214221	8120328	126886188	61	15876											
OR4S1	256148	broad.mit.edu	37	chr11	48328565	48328565	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgtccctccaccaccctggCtgctgacaaacttatcatcc	8	10	5	18	1	1	1	1	1	0	0	5	1	4	1	5	1	2	2	5	1	2	1			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr11:48328565C>A	ENST00000319988.1	+	1	791	c.791C>A	c.(790-792)gCt>gAt	p.A264D		NM_001004725.1	NP_001004725.1	Q8NGB4	OR4S1_HUMAN	olfactory receptor, family 4, subfamily S, member 1	264						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|skin(3)	21						ACCACCCTGGCTGCTGACAAA	0.478																																						ENST00000319988.1																			0				endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|skin(3)	21						c.(790-792)gCt>gAt		olfactory receptor, family 4, subfamily S, member 1							214	191	199					11																	48328565		2201	4298	6499	SO:0001583	missense	256148				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:48328565C>A	AB065908	CCDS31488.1	11p11.2	2012-08-09			ENSG00000176555	ENSG00000176555		"GPCR / Class A : Olfactory receptors"	14705	protein-coding gene	gene with protein product							Standard	NM_001004725		Approved		uc010rhu.2	Q8NGB4	OTTHUMG00000166578	ENST00000319988.1:c.791C>A	11.37:g.48328565C>A	ENSP00000321447:p.Ala264Asp						p.A264D	NM_001004725.1	NP_001004725.1	Q8NGB4	OR4S1_HUMAN			1	791	+			264					Q6IFB4	Missense_Mutation	SNP	ENST00000319988.1	37	c.791C>A	CCDS31488.1	.	.	.	.	.	.	.	.	.	.	C	15.95	2.983042	0.53827	.	.	ENSG00000176555	ENST00000319988	T	0.00058	8.79	5.02	4.1	0.47936	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00144	0.0004	N	0.01668	-0.77	0.09310	N	1	P	0.41188	0.741	P	0.51297	0.665	T	0.65389	-0.6180	9	0.87932	D	0	.	12.9277	0.58270	0.1635:0.8365:0.0:0.0	.	264	Q8NGB4	OR4S1_HUMAN	D	264	ENSP00000321447:A264D	ENSP00000321447:A264D	A	+	2	0	OR4S1	48285141	0.000000	0.05858	0.002000	0.10522	0.678000	0.39670	0.239000	0.18023	1.236000	0.43740	0.655000	0.94253	GCT		0.478	OR4S1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390556.1	NM_001004725		6	167	1	0	0.0381472	1	0.0400822	6	167					A	48328565	C	A	48328565	3	1	309	1	0	0	0	0	1	0	0	0	11082	797	28	5	793	5	OR4S1	11	48328565	Missense_Mutation	SNP	C	TCGA-KK-A5A1-01A-11D-A29Q-08	40208237	48328565	86677951	62	15877											
SYVN1	84447	broad.mit.edu	37	chr11	64897328	64897328	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctcatggccctccagagctcGtagctcctctggggtcagcc	5	9	11	16	1	3	1	2	0	1	1	6	1	5	1	4	3	3	3	4	3	1	1			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr11:64897328G>C	ENST00000377190.3	-	14	1562	c.1468C>G	c.(1468-1470)Cga>Gga	p.R490G	SYVN1_ENST00000307289.6_Missense_Mutation_p.R438G|SYVN1_ENST00000526121.1_5'Flank|SYVN1_ENST00000526060.1_Missense_Mutation_p.R489G|SYVN1_ENST00000294256.8_Missense_Mutation_p.R489G	NM_172230.2	NP_757385.1	Q86TM6	SYVN1_HUMAN	synovial apoptosis inhibitor 1, synoviolin	490					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|in utero embryonic development (GO:0001701)|negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902236)|protein N-linked glycosylation via asparagine (GO:0018279)|protein ubiquitination (GO:0016567)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	acid-amino acid ligase activity (GO:0016881)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22						TCCAGAGCTCGTAGCTCCTCT	0.662																																						ENST00000526060.1																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22						c.(1465-1467)Cga>Gga		synovial apoptosis inhibitor 1, synoviolin							34	39	37					11																	64897328		2201	4297	6498	SO:0001583	missense	84447				ER-associated protein catabolic process|response to stress	endoplasmic reticulum membrane|integral to membrane|nucleus	acid-amino acid ligase activity|protein binding|zinc ion binding	g.chr11:64897328G>C	AB085847	CCDS8097.1, CCDS31605.1	11q13	2013-01-09			ENSG00000162298	ENSG00000162298		"RING-type (C3HC4) zinc fingers"	20738	protein-coding gene	gene with protein product	"HMG-coA reductase degradation 1 homolog (S. cerevisiae)"	608046				12975321	Standard	NM_032431		Approved	HRD1, DER3	uc001odb.3	Q86TM6		ENST00000377190.3:c.1468C>G	11.37:g.64897328G>C	ENSP00000366395:p.Arg490Gly					SYVN1_ENST00000307289.6_Missense_Mutation_p.R438G|SYVN1_ENST00000294256.8_Missense_Mutation_p.R489G|SYVN1_ENST00000377190.3_Missense_Mutation_p.R490G	p.R489G			Q86TM6	SYVN1_HUMAN			14	1657	-			490					Q8N3K3|Q8N6E8|Q96JL5|Q96PK3	Missense_Mutation	SNP	ENST00000377190.3	37	c.1465C>G	CCDS31605.1	.	.	.	.	.	.	.	.	.	.	G	13.49	2.251973	0.39797	.	.	ENSG00000162298	ENST00000377190;ENST00000294256;ENST00000434219;ENST00000307289;ENST00000526060	T;T;T;T	0.13657	2.57;2.63;2.78;2.63	4.61	4.61	0.57282	.	0.126331	0.49916	D	0.000129	T	0.17023	0.0409	M	0.72894	2.215	0.58432	D	0.999997	B;P;P	0.39424	0.447;0.673;0.543	B;B;B	0.37943	0.177;0.261;0.134	T	0.01245	-1.1407	10	0.52906	T	0.07	-6.2591	10.0769	0.42366	0.0:0.0:0.7997:0.2003	.	438;489;490	Q86TM6-2;Q86TM6-3;Q86TM6	.;.;SYVN1_HUMAN	G	490;489;490;438;489	ENSP00000366395:R490G;ENSP00000294256:R489G;ENSP00000302035:R438G;ENSP00000436984:R489G	ENSP00000294256:R489G	R	-	1	2	SYVN1	64653904	0.981000	0.34729	0.996000	0.52242	0.956000	0.61745	4.118000	0.57884	2.405000	0.81733	0.561000	0.74099	CGA		0.662	SYVN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000385274.1	NM_032431		16	37	0	0	0	1	0	16	37					C	64897328	G	C	64897328	3	2	309	1	0	0	0	0	1	0	0	0	15484	1153	40	5	397	5	SYVN1	11	64897328	Missense_Mutation	SNP	G	TCGA-KK-A5A1-01A-11D-A29Q-08	16568763	64897328	70109188	63	15878											
ZDHHC24	254359	broad.mit.edu	37	chr11	66307206	66307206	+	Frame_Shift_Del	DEL	G	G	-																															ccgcagcagcagcatcccatGgaagagcagcccagccccgc																										TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr11:66307206delG	ENST00000310442.3	-	3	883	c.649delC	c.(649-651)catfs	p.H217fs	ZDHHC24_ENST00000525925.1_5'Flank|ZDHHC24_ENST00000526986.1_Intron|CTD-3074O7.12_ENST00000602427.1_lincRNA	NM_207340.1	NP_997223.1	Q6UX98	ZDH24_HUMAN	zinc finger, DHHC-type containing 24	217	Leu-rich.					integral component of membrane (GO:0016021)	protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(3)|ovary(1)|prostate(1)|skin(1)	7						AGCATCCCATGGAAGAGCAGC	0.652																																						ENST00000310442.3																			0				endometrium(1)|large_intestine(3)|ovary(1)|prostate(1)|skin(1)	7						c.(649-651)atfs		zinc finger, DHHC-type containing 24							27	30	29					11																	66307206		2198	4293	6491	SO:0001589	frameshift_variant	254359					integral to membrane	acyltransferase activity|zinc ion binding	g.chr11:66307206delG	BC005015	CCDS8143.1	11q13.2	2008-05-02				ENSG00000174165		"Zinc fingers, DHHC-type"	27387	protein-coding gene	gene with protein product							Standard	NM_207340		Approved		uc001oin.1	Q6UX98		ENST00000310442.3:c.649delC	11.37:g.66307206delG	ENSP00000309429:p.His217fs					ZDHHC24_ENST00000526986.1_Intron	p.H217fs	NM_207340.1	NP_997223.1	Q6UX98	ZDH24_HUMAN			3	883	-			217			Leu-rich.		Q6PEW7|Q9BSJ0	Frame_Shift_Del	DEL	ENST00000310442.3	37	c.649delC	CCDS8143.1																																																																																				0.652	ZDHHC24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393089.1	NM_207340		12	26						12	26	---	---	---	---	-	66307206	G	-	66307206	7	5	309	1	0	1	0	1	0	0	0	0	17612	1348	47	0	209	0	ZDHHC24	11	66307206	Frame_Shift_Del	DEL	G	TCGA-KK-A5A1-01A-11D-A29Q-08	1409878	66307206	68699310	64	15879											
GPR83	10888	broad.mit.edu	37	chr11	94113782	94113782	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacatcgccaatcatattacAcagccacagtttcttggcca	12	10	5	14	1	2	0	1	0	1	0	3	0	2	0	3	1	2	1	3	1	3	4			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr11:94113782A>T	ENST00000243673.2	-	4	976	c.805T>A	c.(805-807)Tgt>Agt	p.C269S	GPR83_ENST00000539203.2_Missense_Mutation_p.C227S	NM_016540.3	NP_057624.3	Q9NYM4	GPR83_HUMAN	G protein-coupled receptor 83	269					response to glucocorticoid (GO:0051384)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|neuropeptide Y receptor activity (GO:0004983)			NS(1)|breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)	19		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				ATCATATTACACAGCCACAGT	0.522																																						ENST00000243673.2																			0				NS(1)|breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)	19						c.(805-807)Tgt>Agt		G protein-coupled receptor 83							80	67	71					11																	94113782		2201	4298	6499	SO:0001583	missense	10888					integral to membrane|plasma membrane	neuropeptide Y receptor activity	g.chr11:94113782A>T	AF236081	CCDS8297.1	11q21	2012-08-21	2003-07-30	2003-08-01	ENSG00000123901	ENSG00000123901		"GPCR / Class A : Orphans"	4523	protein-coding gene	gene with protein product		605569	"G protein-coupled receptor 72"	GPR72		10760605, 11060465	Standard	NM_016540		Approved		uc001pet.2	Q9NYM4	OTTHUMG00000167779	ENST00000243673.2:c.805T>A	11.37:g.94113782A>T	ENSP00000243673:p.Cys269Ser					GPR83_ENST00000539203.2_Missense_Mutation_p.C227S	p.C269S	NM_016540.3	NP_057624.3	Q9NYM4	GPR83_HUMAN			4	976	-		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)	269					B0M0K5|Q6NWR4|Q9P1Y8	Missense_Mutation	SNP	ENST00000243673.2	37	c.805T>A	CCDS8297.1	.	.	.	.	.	.	.	.	.	.	A	13.33	2.206023	0.39003	.	.	ENSG00000123901	ENST00000243673;ENST00000539203	T;T	0.35789	1.29;1.29	5.21	2.82	0.32997	GPCR, rhodopsin-like superfamily (1);	0.203486	0.53938	D	0.000054	T	0.10981	0.0268	N	0.00869	-1.13	0.38868	D	0.956639	B	0.18968	0.032	B	0.29862	0.108	T	0.05257	-1.0896	10	0.34782	T	0.22	.	2.3325	0.04239	0.456:0.2939:0.2501:0.0	.	269	Q9NYM4	GPR83_HUMAN	S	269;227	ENSP00000243673:C269S;ENSP00000441550:C227S	ENSP00000243673:C269S	C	-	1	0	GPR83	93753430	1.000000	0.71417	0.997000	0.53966	0.676000	0.39594	5.197000	0.65141	0.796000	0.33947	0.533000	0.62120	TGT		0.522	GPR83-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396232.1	NM_016540		26	25	0	0	0	1	0	26	25					T	94113782	A	T	94113782	3	4	309	1	0	0	0	0	1	0	0	0	6713	159	6	5	470	5	GPR83	11	94113782	Missense_Mutation	SNP	A	TCGA-KK-A5A1-01A-11D-A29Q-08	27806576	94113782	40892734	65	15880											
WNK1	65125	broad.mit.edu	37	chr12	993363	993363	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gtgagtcctgtgccagaaagCcgattacgagaatcaaaagt	14	8	11	8	2	1	3	1	1	0	2	2	5	2	3	3	0	3	0	3	0	5	1			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr12:993363C>T	ENST00000315939.6	+	18	4441	c.3798C>T	c.(3796-3798)agC>agT	p.S1266S	WNK1_ENST00000340908.4_Silent_p.S859S|WNK1_ENST00000537687.1_Silent_p.S1526S|WNK1_ENST00000535572.1_Silent_p.S1019S|WNK1_ENST00000530271.2_Silent_p.S1764S	NM_018979.3	NP_061852.3	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1	1266					intracellular signal transduction (GO:0035556)|ion transport (GO:0006811)|negative regulation of pancreatic juice secretion (GO:0090188)|negative regulation of phosphatase activity (GO:0010923)|neuron development (GO:0048666)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of systemic arterial blood pressure (GO:0003084)|protein phosphorylation (GO:0006468)|regulation of cellular process (GO:0050794)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|chloride channel inhibitor activity (GO:0019869)|phosphatase binding (GO:0019902)|protein kinase inhibitor activity (GO:0004860)|protein serine/threonine kinase activity (GO:0004674)			breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			TGCCAGAAAGCCGATTACGAG	0.408																																					Colon(19;451 567 6672 12618 28860)	ENST00000537687.1																			0				breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104						c.(4576-4578)agC>agT		WNK lysine deficient protein kinase 1							125	127	126					12																	993363		2203	4300	6503	SO:0001819	synonymous_variant	65125				intracellular protein kinase cascade|ion transport|neuron development	cytoplasm	ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity	g.chr12:993363C>T	AJ296290	CCDS8506.1, CCDS53731.1, CCDS73419.1	12p13.3	2014-09-17	2005-01-19	2005-01-21	ENSG00000060237	ENSG00000060237			14540	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 167"	605232	"protein kinase, lysine deficient 1", "hereditary sensory neuropathy, type II"	PRKWNK1, HSN2			Standard	NM_001184985		Approved	HSAN2, PPP1R167	uc031qfk.1	Q9H4A3	OTTHUMG00000090321	ENST00000315939.6:c.3798C>T	12.37:g.993363C>T						WNK1_ENST00000315939.6_Silent_p.S1266S|WNK1_ENST00000535572.1_Silent_p.S1019S|WNK1_ENST00000530271.2_Silent_p.S1764S|WNK1_ENST00000340908.4_Silent_p.S859S	p.S1526S	NM_001184985.1|NM_213655.4	NP_001171914.1|NP_998820.3	Q9H4A3	WNK1_HUMAN	Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)		18	5221	+	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		1266					A1L4B0|C5HTZ5|C5HTZ6|C5HTZ7|H6WZW3|O15052|P54963|Q4VBX9|Q6IFS5|Q86WL5|Q8N673|Q96CZ6|Q9P1S9	Silent	SNP	ENST00000315939.6	37	c.4578C>T	CCDS8506.1																																																																																				0.408	WNK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206683.1	NM_018979		4	139	0	0	0	1	0	4	139					T	993363	C	T	993363	2	4	309	1	0	0	0	0	0	0	0	1	17374	738	26	3		3	WNK1	12	993363	Silent	SNP	C	TCGA-KK-A5A1-01A-11D-A29Q-08		993363	132858532	66	15881											
AQP6	363	broad.mit.edu	37	chr12	50369276	50369276	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ggtggggcccctgatgggagCcctcctggcctcactgatct	4	9	14	14	0	2	2	1	2	1	0	3	3	3	3	5	5	1	0	5	5	0	0			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr12:50369276C>G	ENST00000315520.5	+	4	1008	c.671C>G	c.(670-672)gCc>gGc	p.A224G	AQP6_ENST00000551733.1_Missense_Mutation_p.A50G	NM_001652.3	NP_001643.2	Q13520	AQP6_HUMAN	aquaporin 6, kidney specific	224					anion transport (GO:0006820)|excretion (GO:0007588)|odontogenesis (GO:0042476)|transmembrane transport (GO:0055085)|transport (GO:0006810)|water transport (GO:0006833)	integral component of plasma membrane (GO:0005887)|transport vesicle membrane (GO:0030658)	anion channel activity (GO:0005253)|water channel activity (GO:0015250)			endometrium(1)|large_intestine(2)|lung(7)|pancreas(1)|skin(2)	13						CTGATGGGAGCCCTCCTGGCC	0.637																																						ENST00000315520.5																			0				endometrium(1)|large_intestine(2)|lung(7)|pancreas(1)|skin(2)	13						c.(670-672)gCc>gGc		aquaporin 6, kidney specific							100	111	107					12																	50369276		2203	4300	6503	SO:0001583	missense	363				excretion|odontogenesis	integral to plasma membrane|transport vesicle membrane	anion channel activity|water channel activity	g.chr12:50369276C>G	AL137716	CCDS31798.1	12q13	2005-09-20			ENSG00000086159	ENSG00000086159		"Ion channels / Aquaporins"	639	protein-coding gene	gene with protein product		601383		AQP2L		8812490	Standard	XM_006719375		Approved		uc001rvr.1	Q13520	OTTHUMG00000133548	ENST00000315520.5:c.671C>G	12.37:g.50369276C>G	ENSP00000320247:p.Ala224Gly					AQP6_ENST00000551733.1_Missense_Mutation_p.A50G	p.A224G	NM_001652.3	NP_001643.2	Q13520	AQP6_HUMAN			4	1008	+			224						Missense_Mutation	SNP	ENST00000315520.5	37	c.671C>G	CCDS31798.1	.	.	.	.	.	.	.	.	.	.	C	8.988	0.976982	0.18812	.	.	ENSG00000086159	ENST00000551733;ENST00000315520	D;D	0.89123	-2.47;-2.47	4.38	4.38	0.52667	Aquaporin-like (2);	0.121781	0.32970	N	0.005422	D	0.87892	0.6292	N	0.17379	0.485	0.44221	D	0.997051	D	0.71674	0.998	D	0.76071	0.987	D	0.83710	0.0187	10	0.12766	T	0.61	0.0164	14.3365	0.66595	0.0:1.0:0.0:0.0	.	224	Q13520	AQP6_HUMAN	G	50;224	ENSP00000449830:A50G;ENSP00000320247:A224G	ENSP00000320247:A224G	A	+	2	0	AQP6	48655543	0.693000	0.27728	0.862000	0.33874	0.835000	0.47333	0.990000	0.29642	2.434000	0.82447	0.650000	0.86243	GCC		0.637	AQP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257528.2	NM_001652, NM_053286		7	216	0	0	0	1	0	7	216					G	50369276	C	G	50369276	3	3	309	1	0	0	0	0	1	0	0	0	830	739	26	5	685	5	AQP6	12	50369276	Missense_Mutation	SNP	C	TCGA-KK-A5A1-01A-11D-A29Q-08	49375913	50369276	83482619	67	15882											
MMP19	4327	broad.mit.edu	37	chr12	56232402	56232402	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcctcacccagcatcatggCatccagttcactactgcaag	10	8	8	15	0	3	0	3	0	0	0	4	0	4	0	3	2	3	4	3	2	2	2			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr12:56232402C>T	ENST00000322569.4	-	6	974	c.883G>A	c.(883-885)Gcc>Acc	p.A295T	MMP19_ENST00000394182.1_5'Flank|MMP19_ENST00000548629.1_Missense_Mutation_p.A272T|MMP19_ENST00000409200.3_Missense_Mutation_p.A213T|MMP19_ENST00000547487.1_5'Flank|TMEM198B_ENST00000478241.1_RNA	NM_002429.4	NP_002420.1	Q99542	MMP19_HUMAN	matrix metallopeptidase 19	295					angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|luteolysis (GO:0001554)|ovarian follicle development (GO:0001541)|ovulation from ovarian follicle (GO:0001542)|proteolysis (GO:0006508)|response to cAMP (GO:0051591)|response to hormone (GO:0009725)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(2)|skin(2)	26					Marimastat(DB00786)	AGCATCATGGCATCCAGTTCA	0.607																																						ENST00000322569.4																			0				endometrium(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(2)|skin(2)	26						c.(883-885)Gcc>Acc		matrix metallopeptidase 19							106	88	94					12																	56232402		2203	4300	6503	SO:0001583	missense	4327				angiogenesis|cell differentiation|collagen catabolic process|proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding	g.chr12:56232402C>T	X92521	CCDS8895.1, CCDS61146.1	12q14	2005-08-08	2005-08-08			ENSG00000123342			7165	protein-coding gene	gene with protein product		601807	"matrix metalloproteinase 19"	MMP18		9232430	Standard	NM_002429		Approved	RASI-1	uc001sib.4	Q99542	OTTHUMG00000170216	ENST00000322569.4:c.883G>A	12.37:g.56232402C>T	ENSP00000313437:p.Ala295Thr					MMP19_ENST00000548629.1_Missense_Mutation_p.A272T|MMP19_ENST00000409200.3_Missense_Mutation_p.A213T	p.A295T	NM_002429.4	NP_002420.1	Q99542	MMP19_HUMAN			6	974	-			295			Hemopexin-like 1.		B4E030|O15278|O95606|Q99580	Missense_Mutation	SNP	ENST00000322569.4	37	c.883G>A	CCDS8895.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.125196	0.77436	.	.	ENSG00000123342	ENST00000322569;ENST00000548629;ENST00000409200	T;T;T	0.57595	2.04;2.04;0.39	5.71	5.71	0.89125	Hemopexin/matrixin (2);	0.000000	0.85682	D	0.000000	T	0.68604	0.3019	L	0.59436	1.845	0.80722	D	1	D;P	0.89917	1.0;0.929	D;P	0.83275	0.996;0.614	T	0.62310	-0.6881	10	0.25106	T	0.35	.	17.3591	0.87345	0.0:1.0:0.0:0.0	.	213;295	B4E030;Q99542	.;MMP19_HUMAN	T	295;272;213	ENSP00000313437:A295T;ENSP00000446979:A272T;ENSP00000386625:A213T	ENSP00000313437:A295T	A	-	1	0	MMP19	54518669	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	6.421000	0.73353	2.699000	0.92147	0.514000	0.50259	GCC		0.607	MMP19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408023.1	NM_002429		40	36	0	0	0	1	0	40	36					T	56232402	C	T	56232402	3	4	309	1	0	0	0	0	1	0	0	0	9657	710	25	3	659	3	MMP19	12	56232402	Missense_Mutation	SNP	C	TCGA-KK-A5A1-01A-11D-A29Q-08	5863126	56232402	77619493	68	15883											
ANO4	121601	broad.mit.edu	37	chr12	101505340	101505340	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acaacacttctatttgaataGgaatttggtatggaattctt	13	16	7	5	0	2	1	0	1	2	0	2	3	2	3	0	3	1	1	0	3	7	8			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr12:101505340G>A	ENST00000392977.3	+	24	2512		c.e24-1		ANO4_ENST00000299222.9_Splice_Site|ANO4_ENST00000392979.3_Splice_Site|ANO4_ENST00000550015.1_Splice_Site			Q32M45	ANO4_HUMAN	anoctamin 4						chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)			NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						TATTTGAATAGGAATTTGGTA	0.333										HNSCC(74;0.22)																												ENST00000392979.3																			0				NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						c.e23-1		anoctamin 4							112	111	111					12																	101505340		2203	4300	6503	SO:0001630	splice_region_variant	121601					chloride channel complex	chloride channel activity	g.chr12:101505340G>A	AK091540	CCDS31884.1, CCDS66445.1	12q23.3	2014-04-09	2008-08-28	2008-08-28	ENSG00000151572	ENSG00000151572		"Ion channels / Chloride channels : Calcium activated : Anoctamins"	23837	protein-coding gene	gene with protein product		610111	"transmembrane protein 16D"	TMEM16D		12739008, 15067359, 24692353	Standard	NM_178826		Approved	FLJ34221, FLJ34272, FLJ35277	uc001thw.2	Q32M45		ENST00000392977.3:c.2303-1G>A	12.37:g.101505340G>A		HNSCC(74;0.22)				ANO4_ENST00000392977.3_Splice_Site|ANO4_ENST00000299222.9_Splice_Site|ANO4_ENST00000550015.1_Splice_Site		NM_178826.3	NP_849148.2	Q32M45	ANO4_HUMAN			23	2558	+								Q8NAJ0|Q8NB39|Q8NB53	Splice_Site	SNP	ENST00000392977.3	37			.	.	.	.	.	.	.	.	.	.	G	24.0	4.479156	0.84747	.	.	ENSG00000151572	ENST00000392979;ENST00000299222;ENST00000392977;ENST00000550015	.	.	.	5.61	5.61	0.85477	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.6276	0.95684	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ANO4	100029471	1.000000	0.71417	1.000000	0.80357	0.913000	0.54294	9.714000	0.98744	2.652000	0.90054	0.655000	0.94253	.		0.333	ANO4-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000409295.1	NM_178826	Intron	17	36	0	0	0	1	0	17	36					A	101505340	G	A	101505340	5	1	309	1	0	0	0	0	0	0	1	0	699	1014	35	3	2283	3	ANO4	12	101505340	Splice_Site	SNP	G	TCGA-KK-A5A1-01A-11D-A29Q-08	45272938	101505340	32346555	69	15884											
CHST11	50515	broad.mit.edu	37	chr12	105150791	105150791	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccaggtgacagacacgtgccGagccaacagcgccacaagcc	12	2	11	16	3	0	2	0	1	0	1	0	3	0	2	5	1	5	0	5	1	2	0			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr12:105150791G>A	ENST00000303694.5	+	3	708	c.269G>A	c.(268-270)cGa>cAa	p.R90Q	CHST11_ENST00000549260.1_Missense_Mutation_p.R85Q	NM_018413.5	NP_060883.1	Q9NPF2	CHSTB_HUMAN	carbohydrate (chondroitin 4) sulfotransferase 11	90					carbohydrate biosynthetic process (GO:0016051)|carbohydrate metabolic process (GO:0005975)|chondrocyte development (GO:0002063)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|developmental growth (GO:0048589)|embryonic digit morphogenesis (GO:0042733)|embryonic viscerocranium morphogenesis (GO:0048703)|glycosaminoglycan metabolic process (GO:0030203)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|polysaccharide localization (GO:0033037)|post-anal tail morphogenesis (GO:0036342)|post-embryonic development (GO:0009791)|regulation of cell proliferation (GO:0042127)|respiratory gaseous exchange (GO:0007585)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	chondroitin 4-sulfotransferase activity (GO:0047756)|N-acetylgalactosamine 4-O-sulfotransferase activity (GO:0001537)|N-acetylgalactosamine 4-sulfate 6-O-sulfotransferase activity (GO:0050659)			breast(2)|endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(1)	18						GACACGTGCCGAGCCAACAGC	0.582																																						ENST00000303694.5																			0				breast(2)|endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(1)	18						c.(268-270)cGa>cAa		carbohydrate (chondroitin 4) sulfotransferase 11							49	39	43					12																	105150791		2203	4300	6503	SO:0001583	missense	50515				chondroitin sulfate biosynthetic process	Golgi membrane|integral to membrane	chondroitin 4-sulfotransferase activity|N-acetylgalactosamine 4-O-sulfotransferase activity	g.chr12:105150791G>A	AB042326	CCDS9099.1, CCDS55878.1	12q23.3	2008-02-05				ENSG00000171310	2.8.2.5	"Sulfotransferases, membrane-bound"	17422	protein-coding gene	gene with protein product		610128				10781601	Standard	NM_018413		Approved	C4ST1, C4St-1, C4ST, HSA269537	uc001tkz.3	Q9NPF2	OTTHUMG00000169803	ENST00000303694.5:c.269G>A	12.37:g.105150791G>A	ENSP00000305725:p.Arg90Gln					CHST11_ENST00000549260.1_Missense_Mutation_p.R85Q	p.R90Q	NM_018413.5	NP_060883.1	Q9NPF2	CHSTB_HUMAN			3	708	+			90					A8K4F8|Q9NXY6|Q9NY36	Missense_Mutation	SNP	ENST00000303694.5	37	c.269G>A	CCDS9099.1	.	.	.	.	.	.	.	.	.	.	G	14.57	2.575780	0.45902	.	.	ENSG00000171310	ENST00000549260;ENST00000303694;ENST00000549016	T;T;T	0.67865	-0.29;-0.28;-0.02	5.51	5.51	0.81932	.	0.059676	0.64402	D	0.000002	T	0.56470	0.1987	L	0.53249	1.67	0.80722	D	1	P;P	0.46621	0.881;0.88	B;B	0.30029	0.11;0.076	T	0.59423	-0.7457	10	0.15499	T	0.54	-21.1515	19.4315	0.94772	0.0:0.0:1.0:0.0	.	85;90	Q9NPF2-2;Q9NPF2	.;CHSTB_HUMAN	Q	85;90;50	ENSP00000450004:R85Q;ENSP00000305725:R90Q;ENSP00000449095:R50Q	ENSP00000305725:R90Q	R	+	2	0	CHST11	103674921	1.000000	0.71417	0.957000	0.39632	0.794000	0.44872	6.506000	0.73712	2.600000	0.87896	0.655000	0.94253	CGA		0.582	CHST11-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000405960.2	NM_018413		3	22	0	0	0	1	0	3	22					A	105150791	G	A	105150791	3	1	309	1	0	0	0	0	1	0	0	0	3399	1058	37	2	279	2	CHST11	12	105150791	Missense_Mutation	SNP	G	TCGA-KK-A5A1-01A-11D-A29Q-08	3645451	105150791	28701104	70	15885											
ACACB	32	broad.mit.edu	37	chr12	109577338	109577338	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atcagaagcaaacctcatccCgagccaggagccctttccag	12	6	8	15	1	2	1	2	0	0	1	4	3	4	2	5	1	4	1	5	1	2	1	rs142445607	byFrequency	TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr12:109577338C>A	ENST00000338432.7	+	2	247	c.128C>A	c.(127-129)cCg>cAg	p.P43Q	ACACB_ENST00000377848.3_Missense_Mutation_p.P43Q|ACACB_ENST00000377854.5_Missense_Mutation_p.P43Q			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	43					acetyl-CoA metabolic process (GO:0006084)|biotin metabolic process (GO:0006768)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|malonyl-CoA biosynthetic process (GO:2001295)|positive regulation of cellular metabolic process (GO:0031325)|protein homotetramerization (GO:0051289)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	acetyl-CoA carboxylase activity (GO:0003989)|ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin carboxylase activity (GO:0004075)|metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Adenine(DB00173)|Biotin(DB00121)	AACCTCATCCCGAGCCAGGAG	0.542																																						ENST00000338432.7																			0				NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95						c.(127-129)cCg>cAg		acetyl-CoA carboxylase beta	Biotin(DB00121)						79	83	81					12																	109577338		2203	4300	6503	SO:0001583	missense	32				acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	cytosol|endomembrane system|Golgi apparatus|membrane	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding	g.chr12:109577338C>A	U89344	CCDS31898.1	12q24.1	2010-05-07	2010-04-30		ENSG00000076555	ENSG00000076555	6.4.1.2		85	protein-coding gene	gene with protein product	"acetyl-CoA carboxylase 2"	601557	"acetyl-Coenzyme A carboxylase beta"			8670171	Standard	NM_001093		Approved	HACC275, ACC2, ACCB	uc001toc.3	O00763	OTTHUMG00000169250	ENST00000338432.7:c.128C>A	12.37:g.109577338C>A	ENSP00000341044:p.Pro43Gln					ACACB_ENST00000377848.3_Missense_Mutation_p.P43Q|ACACB_ENST00000377854.5_Missense_Mutation_p.P43Q	p.P43Q			O00763	ACACB_HUMAN			2	247	+			43					A6NK36|Q16852|Q1HEC1|Q6KE87|Q6KE89|Q6TY48	Missense_Mutation	SNP	ENST00000338432.7	37	c.128C>A	CCDS31898.1	.	.	.	.	.	.	.	.	.	.	C	6.689	0.495718	0.12762	.	.	ENSG00000076555	ENST00000338432;ENST00000539864;ENST00000377848;ENST00000377854	D;D;D	0.95238	-3.65;-3.65;-3.63	5.75	-7.52	0.01341	.	1.092010	0.07094	N	0.839329	D	0.87386	0.6164	L	0.40543	1.245	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.73404	-0.3993	10	0.52906	T	0.07	.	2.0655	0.03601	0.2471:0.3505:0.0797:0.3227	.	43	O00763	ACACB_HUMAN	Q	43;18;43;43	ENSP00000341044:P43Q;ENSP00000367079:P43Q;ENSP00000367085:P43Q	ENSP00000341044:P43Q	P	+	2	0	ACACB	108061721	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.676000	0.01946	-1.607000	0.01589	-3.375000	0.00041	CCG		0.542	ACACB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403077.1	NM_001093		5	142	1	0	0.000602214	1	0.00065655	5	142					A	109577338	C	A	109577338	3	1	309	1	0	0	0	0	1	0	0	0	107	652	23	5	130	5	ACACB	12	109577338	Missense_Mutation	SNP	C	TCGA-KK-A5A1-01A-11D-A29Q-08	4426547	109577338	24274557	71	15886											
RIMBP2	23504	broad.mit.edu	37	chr12	130921640	130921640	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggactccagaacttgctaatGgctttgattggggtgcaggt	8	12	14	7	0	0	2	0	1	0	1	1	3	1	3	1	5	3	3	1	5	2	4			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr12:130921640G>T	ENST00000261655.4	-	10	1965	c.1802C>A	c.(1801-1803)cCa>cAa	p.P601Q	RIMBP2_ENST00000535703.1_Missense_Mutation_p.P509Q|RIMBP2_ENST00000536002.1_Missense_Mutation_p.P509Q	NM_015347.4	NP_056162.4	O15034	RIMB2_HUMAN	RIMS binding protein 2	601	Pro-rich.				negative regulation of phosphatase activity (GO:0010923)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|synapse (GO:0045202)				NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		ACTTGCTAATGGCTTTGATTG	0.652																																						ENST00000261655.4																			0				NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96						c.(1801-1803)cCa>cAa		RIMS binding protein 2							58	46	50					12																	130921640		2203	4299	6502	SO:0001583	missense	23504					cell junction|synapse		g.chr12:130921640G>T	AB002316	CCDS31925.1	12q24.33	2014-06-13				ENSG00000060709			30339	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 133"	611602				10748113	Standard	NM_015347		Approved	KIAA0318, RBP2, MGC15831, RIM-BP2, PPP1R133	uc001uil.2	O15034		ENST00000261655.4:c.1802C>A	12.37:g.130921640G>T	ENSP00000261655:p.Pro601Gln					RIMBP2_ENST00000535703.1_Missense_Mutation_p.P509Q|RIMBP2_ENST00000536002.1_Missense_Mutation_p.P509Q	p.P601Q	NM_015347.4	NP_056162.4	O15034	RIMB2_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)	10	1965	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)	601			Pro-rich.		Q96ID2	Missense_Mutation	SNP	ENST00000261655.4	37	c.1802C>A	CCDS31925.1	.	.	.	.	.	.	.	.	.	.	G	17.28	3.350294	0.61183	.	.	ENSG00000060709	ENST00000261655;ENST00000392375;ENST00000535703;ENST00000536002	T;T;T	0.30714	1.52;1.52;1.52	4.63	4.63	0.57726	.	0.234432	0.36167	N	0.002746	T	0.57902	0.2085	M	0.77820	2.39	0.58432	D	0.999997	D;D;D	0.89917	1.0;0.999;0.993	D;D;P	0.87578	0.998;0.988;0.855	T	0.62676	-0.6804	10	0.51188	T	0.08	-11.9326	17.4987	0.87725	0.0:0.0:1.0:0.0	.	509;509;601	C9JWN3;O15034-2;O15034	.;.;RIMB2_HUMAN	Q	601;509;509;509	ENSP00000261655:P601Q;ENSP00000440347:P509Q;ENSP00000439159:P509Q	ENSP00000261655:P601Q	P	-	2	0	RIMBP2	129487593	1.000000	0.71417	0.997000	0.53966	0.093000	0.18481	9.514000	0.98013	2.121000	0.65114	0.561000	0.74099	CCA		0.652	RIMBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399520.1	NM_015347		4	14	1	0	0.00024832	1	0.000274858	4	14					T	130921640	G	T	130921640	3	4	309	1	0	0	0	0	1	0	0	0	13363	1348	47	5	1396	5	RIMBP2	12	130921640	Missense_Mutation	SNP	G	TCGA-KK-A5A1-01A-11D-A29Q-08	21344302	130921640	2930255	72	15887											
STARD13	90627	broad.mit.edu	37	chr13	33700314	33700314	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acgtggactatgagaggaacGccaaagacagccttgtcttt	12	9	11	9	2	1	2	0	1	1	2	1	5	1	4	2	2	2	0	2	2	3	3			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr13:33700314G>A	ENST00000336934.5	-	7	2102	c.1986C>T	c.(1984-1986)ggC>ggT	p.G662G	STARD13_ENST00000255486.4_Silent_p.G654G|STARD13_ENST00000399365.3_Silent_p.G544G	NM_001243476.1|NM_178006.3	NP_001230405.1|NP_821074.1	Q9Y3M8	STA13_HUMAN	StAR-related lipid transfer (START) domain containing 13	662					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|lipid particle (GO:0005811)|membrane (GO:0016020)|mitochondrion (GO:0005739)	GTPase activator activity (GO:0005096)|lipid binding (GO:0008289)			breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	40	all_epithelial(80;0.155)	Lung SC(185;0.0367)		all cancers(112;1.31e-05)|Epithelial(112;0.000142)|BRCA - Breast invasive adenocarcinoma(63;0.00936)|OV - Ovarian serous cystadenocarcinoma(117;0.0533)|Lung(94;0.143)|GBM - Glioblastoma multiforme(144;0.143)		TGAGAGGAACGCCAAAGACAG	0.488																																						ENST00000336934.5																			0				breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	40						c.(1984-1986)ggC>ggT		StAR-related lipid transfer (START) domain containing 13							199	176	184					13																	33700314		2203	4300	6503	SO:0001819	synonymous_variant	90627				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|lipid particle|mitochondrial membrane	GTPase activator activity|protein binding	g.chr13:33700314G>A	AL049801	CCDS9348.1, CCDS9349.1, CCDS9350.1	13q13.1	2013-08-13	2007-08-16		ENSG00000133121	ENSG00000133121		"Rho GTPase activating proteins", "StAR-related lipid transfer (START) domain containing"	19164	protein-coding gene	gene with protein product		609866	"START domain containing 13", "long intergenic non-protein coding RNA 464"	LINC00464		8812419	Standard	NM_178006		Approved	GT650, DLC2, ARHGAP37	uc001uuw.3	Q9Y3M8	OTTHUMG00000016708	ENST00000336934.5:c.1986C>T	13.37:g.33700314G>A						STARD13_ENST00000399365.3_Silent_p.G544G|STARD13_ENST00000255486.4_Silent_p.G654G	p.G662G	NM_001243476.1|NM_178006.3	NP_001230405.1|NP_821074.1	Q9Y3M8	STA13_HUMAN		all cancers(112;1.31e-05)|Epithelial(112;0.000142)|BRCA - Breast invasive adenocarcinoma(63;0.00936)|OV - Ovarian serous cystadenocarcinoma(117;0.0533)|Lung(94;0.143)|GBM - Glioblastoma multiforme(144;0.143)	7	2102	-	all_epithelial(80;0.155)	Lung SC(185;0.0367)	662					A2A309|A2A310|Q5HYH1|Q5TAE3|Q6UN61|Q86TP6|Q86WQ3|Q86XT1	Silent	SNP	ENST00000336934.5	37	c.1986C>T	CCDS9348.1																																																																																				0.488	STARD13-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276118.2	NM_001243466		26	158	0	0	0	1	0	26	158					A	33700314	G	A	33700314	2	1	309	1	0	0	0	0	0	0	0	1	15255	1074	38	1		1	STARD13	13	33700314	Silent	SNP	G	TCGA-KK-A5A1-01A-11D-A29Q-08		33700314	81469564	73	15888											
DIAPH3	81624	broad.mit.edu	37	chr13	60435606	60435606	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtatatcagggtacttctctTcacatatttctaccaggaaa	12	14	6	9	0	4	0	2	0	2	0	5	1	4	1	1	2	2	2	1	2	6	8			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr13:60435606T>G	ENST00000400324.4	-	22	2892	c.2672A>C	c.(2671-2673)gAa>gCa	p.E891A	DIAPH3_ENST00000400320.1_Missense_Mutation_p.E845A|DIAPH3_ENST00000465066.1_5'UTR|DIAPH3_ENST00000267215.4_Missense_Mutation_p.E891A|DIAPH3_ENST00000377908.2_Missense_Mutation_p.E880A|DIAPH3_ENST00000400330.1_Missense_Mutation_p.E891A|DIAPH3_ENST00000400319.1_Missense_Mutation_p.E821A	NM_001042517.1|NM_001258366.1	NP_001035982.1|NP_001245295.1	Q9NSV4	DIAP3_HUMAN	diaphanous-related formin 3	891	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.				actin cytoskeleton organization (GO:0030036)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|liver(1)|lung(20)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Breast(118;0.052)|Prostate(109;0.103)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;2.77e-05)		GTACTTCTCTTCACATATTTC	0.368																																						ENST00000400324.4																			0				cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|liver(1)|lung(20)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						c.(2671-2673)gAa>gCa		diaphanous-related formin 3							146	135	138					13																	60435606		1830	4082	5912	SO:0001583	missense	81624				actin cytoskeleton organization		actin binding|Rho GTPase binding	g.chr13:60435606T>G	AL137718	CCDS41898.1, CCDS58294.1, CCDS58295.1, CCDS58296.1, CCDS58297.1, CCDS73579.1, CCDS73580.1	13q21.2	2013-05-24	2013-05-24		ENSG00000139734	ENSG00000139734			15480	protein-coding gene	gene with protein product		614567	"diaphanous (Drosophila, homolog) 3", "auditory neuropathy, autosomal dominant 1", "diaphanous homolog 3 (Drosophila)"	AUNA1		14767582, 20624953	Standard	NM_030932		Approved	DRF3, FLJ34705, AN, NSDAN	uc001vht.4	Q9NSV4	OTTHUMG00000017004	ENST00000400324.4:c.2672A>C	13.37:g.60435606T>G	ENSP00000383178:p.Glu891Ala					DIAPH3_ENST00000400330.1_Missense_Mutation_p.E891A|DIAPH3_ENST00000377908.2_Missense_Mutation_p.E880A|DIAPH3_ENST00000267215.4_Missense_Mutation_p.E891A|DIAPH3_ENST00000465066.1_5'UTR|DIAPH3_ENST00000400319.1_Missense_Mutation_p.E821A|DIAPH3_ENST00000400320.1_Missense_Mutation_p.E845A	p.E891A	NM_001042517.1|NM_001258366.1	NP_001035982.1|NP_001245295.1	Q9NSV4	DIAP3_HUMAN		GBM - Glioblastoma multiforme(99;2.77e-05)	22	2892	-		Breast(118;0.052)|Prostate(109;0.103)|Hepatocellular(98;0.132)	891			FH2.		A2A3B8|A2A3B9|A2A3C0|Q18P99|Q18PA0|Q18PA1|Q2KPB6|Q3ZK23|Q5JTP8|Q5T2S7|Q5XKF6|Q6MZF0|Q6NUP0|Q86VS4|Q8NAV4	Missense_Mutation	SNP	ENST00000400324.4	37	c.2672A>C	CCDS41898.1	.	.	.	.	.	.	.	.	.	.	T	27.7	4.857564	0.91433	.	.	ENSG00000139734	ENST00000400324;ENST00000400330;ENST00000400327;ENST00000413168;ENST00000400329;ENST00000377908;ENST00000400319;ENST00000400320;ENST00000267215;ENST00000267214;ENST00000453990	T;T;T;T;T;T	0.17370	2.28;2.28;2.28;2.28;2.28;2.28	5.38	5.38	0.77491	Actin-binding FH2/DRF autoregulatory (1);Actin-binding FH2 (3);	0.000000	0.85682	D	0.000000	T	0.45094	0.1325	M	0.81802	2.56	0.52099	D	0.999946	P;D;D	0.69078	0.575;0.994;0.997	P;D;D	0.76071	0.636;0.987;0.953	T	0.49762	-0.8905	10	0.87932	D	0	.	15.3898	0.74735	0.0:0.0:0.0:1.0	.	628;628;891	Q9NSV4-2;Q9NSV4-1;Q9NSV4	.;.;DIAP3_HUMAN	A	891;891;880;845;821;880;821;845;891;628;891	ENSP00000383178:E891A;ENSP00000383184:E891A;ENSP00000367141:E880A;ENSP00000383173:E821A;ENSP00000383174:E845A;ENSP00000267215:E891A	ENSP00000267214:E628A	E	-	2	0	DIAPH3	59333607	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	7.698000	0.84413	2.051000	0.60960	0.459000	0.35465	GAA		0.368	DIAPH3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045166.3	NM_001042517		7	58	0	0	0	1	0	7	58					G	60435606	T	G	60435606	3	3	309	1	0	0	0	0	1	0	0	0	4520	1783	62	5	957	5	DIAPH3	13	60435606	Missense_Mutation	SNP	T	TCGA-KK-A5A1-01A-11D-A29Q-08	26735292	60435606	54734272	74	15889											
SLC10A2	6555	broad.mit.edu	37	chr13	103701641	103701641	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	attggcatgattccttacatCctaagaatattgcggcaaag	13	12	8	8	1	0	2	0	1	0	1	2	2	2	2	2	2	2	2	2	2	5	6	rs561797796		TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr13:103701641C>A	ENST00000245312.3	-	5	1513	c.917G>T	c.(916-918)gGa>gTa	p.G306V		NM_000452.2	NP_000443	Q12908	NTCP2_HUMAN	solute carrier family 10 (sodium/bile acid cotransporter), member 2	306					bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|integral component of plasma membrane (GO:0005887)|microvillus (GO:0005902)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|proteasome complex (GO:0000502)	bile acid:sodium symporter activity (GO:0008508)			breast(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_neural(89;0.0662)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)				Aciclovir(DB00787)|Cyclosporine(DB00091)|Ursodeoxycholic acid(DB01586)|Valaciclovir(DB00577)	TTCCTTACATCCTAAGAATAT	0.428																																						ENST00000245312.3																			0				breast(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						c.(916-918)gGa>gTa		solute carrier family 10 (sodium/bile acid cotransporter), member 2							156	138	144					13																	103701641		2203	4300	6503	SO:0001583	missense	6555				bile acid metabolic process|organic anion transport	integral to plasma membrane	bile acid:sodium symporter activity	g.chr13:103701641C>A	U10417	CCDS9506.1	13q33	2013-07-18	2013-07-18		ENSG00000125255	ENSG00000125255		"Solute carriers"	10906	protein-coding gene	gene with protein product		601295		ASBT, ISBT		8661017	Standard	NM_000452		Approved		uc001vpy.4	Q12908	OTTHUMG00000017313	ENST00000245312.3:c.917G>T	13.37:g.103701641C>A	ENSP00000245312:p.Gly306Val						p.G306V	NM_000452.2	NP_000443.1	Q12908	NTCP2_HUMAN			5	1513	-	all_neural(89;0.0662)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)		306					A1L4F4|Q13839	Missense_Mutation	SNP	ENST00000245312.3	37	c.917G>T	CCDS9506.1	.	.	.	.	.	.	.	.	.	.	C	8.637	0.895093	0.17613	.	.	ENSG00000125255	ENST00000245312	T	0.07688	3.17	5.42	0.394	0.16299	.	0.458062	0.25014	N	0.033815	T	0.07954	0.0199	L	0.38953	1.18	0.24078	N	0.99596	B	0.10296	0.003	B	0.14578	0.011	T	0.30208	-0.9986	10	0.21540	T	0.41	-7.3083	17.1503	0.86776	0.1016:0.2683:0.6301:0.0	.	306	Q12908	NTCP2_HUMAN	V	306	ENSP00000245312:G306V	ENSP00000245312:G306V	G	-	2	0	SLC10A2	102499642	0.998000	0.40836	0.000000	0.03702	0.042000	0.13812	1.056000	0.30480	-0.184000	0.10567	-0.175000	0.13238	GGA		0.428	SLC10A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045716.1			20	87	1	0	3.51602e-12	1	4.32053e-12	20	87					A	103701641	C	A	103701641	3	1	309	1	0	0	0	0	1	0	0	0	14374	855	30	5	137	5	SLC10A2	13	103701641	Missense_Mutation	SNP	C	TCGA-KK-A5A1-01A-11D-A29Q-08	43266035	103701641	11468237	75	15890											
RNF31	55072	broad.mit.edu	37	chr14	24617597	24617597	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	actggaagtactgctgcttcGgacagagctcagcctgctat	9	10	11	11	1	1	1	1	0	0	1	2	3	1	3	1	2	6	5	1	2	3	3			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr14:24617597G>A	ENST00000324103.6	+	3	790	c.470G>A	c.(469-471)cGg>cAg	p.R157Q	RNF31_ENST00000382687.3_5'Flank|PSME2_ENST00000560410.1_5'Flank|PSME2_ENST00000471700.2_5'Flank|RNF31_ENST00000557878.1_3'UTR|RNF31_ENST00000559275.1_5'UTR|RP11-468E2.4_ENST00000558468.1_5'Flank|PSME2_ENST00000216802.5_5'Flank	NM_017999.4	NP_060469.4	Q96EP0	RNF31_HUMAN	ring finger protein 31	157	Polyubiquitin-binding.				CD40 signaling pathway (GO:0023035)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein linear polyubiquitination (GO:0097039)|protein polyubiquitination (GO:0000209)|T cell receptor signaling pathway (GO:0050852)	CD40 receptor complex (GO:0035631)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|LUBAC complex (GO:0071797)	ligase activity (GO:0016874)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|prostate(4)|skin(2)|soft_tissue(1)	39				GBM - Glioblastoma multiforme(265;0.00861)		CTGCTGCTTCGGACAGAGCTC	0.547																																						ENST00000324103.6																			0				breast(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|prostate(4)|skin(2)|soft_tissue(1)	39						c.(469-471)cGg>cAg		ring finger protein 31							58	61	60					14																	24617597		2077	4207	6284	SO:0001583	missense	55072				CD40 signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protein linear polyubiquitination|T cell receptor signaling pathway	CD40 receptor complex|internal side of plasma membrane|LUBAC complex	ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr14:24617597G>A	AK000973	CCDS41931.1	14q11.2	2012-09-20			ENSG00000092098	ENSG00000092098		"RING-type (C3HC4) zinc fingers"	16031	protein-coding gene	gene with protein product	"HOIL-1-interacting protein"	612487				10422847	Standard	NM_017999		Approved	ZIBRA, FLJ10111, FLJ23501, HOIP	uc001wmn.1	Q96EP0	OTTHUMG00000028798	ENST00000324103.6:c.470G>A	14.37:g.24617597G>A	ENSP00000315112:p.Arg157Gln					RNF31_ENST00000559275.1_5'UTR|RNF31_ENST00000557878.1_3'UTR	p.R157Q	NM_017999.4	NP_060469.4	Q96EP0	RNF31_HUMAN		GBM - Glioblastoma multiforme(265;0.00861)	3	790	+			157			Polyubiquitin-binding.		A0A962|Q86VI2|Q8TEI0|Q96GB4|Q96NF1|Q9H5F1|Q9NWD2	Missense_Mutation	SNP	ENST00000324103.6	37	c.470G>A	CCDS41931.1	.	.	.	.	.	.	.	.	.	.	G	28.9	4.963642	0.92791	.	.	ENSG00000092098	ENST00000324103	T	0.51071	0.72	5.09	5.09	0.68999	.	0.000000	0.64402	D	0.000001	T	0.42131	0.1189	L	0.53249	1.67	0.80722	D	1	D	0.57571	0.98	B	0.40864	0.342	T	0.48614	-0.9020	10	0.87932	D	0	-17.6587	10.9227	0.47174	0.0863:0.0:0.9137:0.0	.	157	Q96EP0	RNF31_HUMAN	Q	157	ENSP00000315112:R157Q	ENSP00000315112:R157Q	R	+	2	0	RNF31	23687437	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.582000	0.74049	2.662000	0.90505	0.655000	0.94253	CGG		0.547	RNF31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071921.3	NM_017999		12	38	0	0	0	1	0	12	38					A	24617597	G	A	24617597	3	1	309	1	0	0	0	0	1	0	0	0	13487	1116	39	2	480	2	RNF31	14	24617597	Missense_Mutation	SNP	G	TCGA-KK-A5A1-01A-11D-A29Q-08		24617597	82731943	76	15891											
MDGA2	161357	broad.mit.edu	37	chr14	47426763	47426763	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcacccgtattggataggCtctcagtactctgcaactca	10	10	8	13	1	3	0	2	0	2	0	4	1	3	1	1	2	4	5	1	2	4	4			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr14:47426763C>G	ENST00000399232.2	-	9	2060	c.1696G>C	c.(1696-1698)Gcc>Ccc	p.A566P	SNORA25_ENST00000515926.1_RNA|MDGA2_ENST00000357362.3_Missense_Mutation_p.A337P|MDGA2_ENST00000426342.1_Missense_Mutation_p.A337P|MDGA2_ENST00000439988.3_Missense_Mutation_p.A635P	NM_001113498.2	NP_001106970.3	Q7Z553	MDGA2_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 2	566	Ig-like 6.				pattern specification process (GO:0007389)|spinal cord motor neuron differentiation (GO:0021522)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5)	76						ATTGGATAGGCTCTCAGTACT	0.473																																						ENST00000426342.1																			0				breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5)	76						c.(1009-1011)Gcc>Ccc		MAM domain containing glycosylphosphatidylinositol anchor 2							97	96	96					14																	47426763		1973	4172	6145	SO:0001583	missense	161357				spinal cord motor neuron differentiation	anchored to membrane|plasma membrane		g.chr14:47426763C>G	AI859192	CCDS41948.1, CCDS45098.1, CCDS45098.2, CCDS45098.3	14q21.2	2013-01-29	2007-04-03	2007-04-03	ENSG00000139915	ENSG00000139915		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	19835	protein-coding gene	gene with protein product		611128	"MAM domain containing 1"	MAMDC1		15019943	Standard	NM_001113498		Approved		uc001wwj.4	Q7Z553	OTTHUMG00000029429	ENST00000399232.2:c.1696G>C	14.37:g.47426763C>G	ENSP00000382178:p.Ala566Pro					MDGA2_ENST00000357362.3_Missense_Mutation_p.A337P|MDGA2_ENST00000399232.2_Missense_Mutation_p.A635P|MDGA2_ENST00000439988.2_Missense_Mutation_p.A566P	p.A337P	NM_182830.3	NP_878250.2	Q7Z553	MDGA2_HUMAN			9	1755	-			566					F6W3S7|J3KPX6	Missense_Mutation	SNP	ENST00000399232.2	37	c.1009G>C		.	.	.	.	.	.	.	.	.	.	C	28.9	4.960290	0.92791	.	.	ENSG00000139915	ENST00000439988;ENST00000426342;ENST00000399232;ENST00000357362	T;T;T;T	0.13196	2.61;2.61;2.61;2.61	5.32	5.32	0.75619	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.50627	U	0.000101	T	0.33089	0.0851	L	0.57536	1.79	0.80722	D	1	D;D	0.55172	0.97;0.958	P;D	0.65010	0.849;0.931	T	0.00733	-1.1589	10	0.40728	T	0.16	.	17.5607	0.87906	0.0:1.0:0.0:0.0	.	337;566	F6W3S7;Q7Z553	.;MDGA2_HUMAN	P	566;337;635;337	ENSP00000400011:A566P;ENSP00000405456:A337P;ENSP00000382178:A635P;ENSP00000349925:A337P	ENSP00000349925:A337P	A	-	1	0	MDGA2	46496513	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.180000	0.77674	2.488000	0.83962	0.650000	0.86243	GCC		0.473	MDGA2-001	KNOWN	upstream_ATG|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000073352.5	NM_182830		20	73	0	0	0	1	0	20	73					G	47426763	C	G	47426763	3	3	309	1	0	0	0	0	1	0	0	0	9407	797	28	5	1210	5	MDGA2	14	47426763	Missense_Mutation	SNP	C	TCGA-KK-A5A1-01A-11D-A29Q-08	22809166	47426763	59922777	77	15892											
FAM181A	90050	broad.mit.edu	37	chr14	94395392	94395392	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttcccggggagctggcgcAcctctgcaaggatgtggacg	6	8	15	12	3	1	0	0	0	1	0	2	3	2	3	2	5	2	3	2	5	1	1			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr14:94395392A>G	ENST00000267594.5	+	3	1254	c.947A>G	c.(946-948)cAc>cGc	p.H316R	FAM181A_ENST00000556222.1_Missense_Mutation_p.H254R|FAM181A_ENST00000557000.2_Missense_Mutation_p.H254R|FAM181A_ENST00000557719.1_Missense_Mutation_p.H254R|FAM181A-AS1_ENST00000554742.1_RNA	NM_001207073.1|NM_001207074.1|NM_138344.4	NP_001194002.1|NP_001194003.1|NP_612353.3	Q8N9Y4	F181A_HUMAN	family with sequence similarity 181, member A	316										cervix(1)|endometrium(2)|large_intestine(8)|lung(4)|prostate(1)|skin(2)	18						GAGCTGGCGCACCTCTGCAAG	0.667																																						ENST00000267594.5																			0				cervix(1)|endometrium(2)|large_intestine(8)|lung(4)|prostate(1)|skin(2)	18						c.(946-948)cAc>cGc		family with sequence similarity 181, member A							31	35	33					14																	94395392		2203	4299	6502	SO:0001583	missense	90050							g.chr14:94395392A>G	BC009073	CCDS9914.1, CCDS55939.1	14q32.12	2011-11-30	2008-07-22	2008-07-22	ENSG00000140067	ENSG00000140067			20491	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 152"	C14orf152			Standard	NM_138344		Approved		uc021saz.1	Q8N9Y4	OTTHUMG00000171297	ENST00000267594.5:c.947A>G	14.37:g.94395392A>G	ENSP00000267594:p.His316Arg					FAM181A_ENST00000556222.1_Missense_Mutation_p.H254R|FAM181A_ENST00000557000.2_Missense_Mutation_p.H254R|FAM181A_ENST00000557719.1_Missense_Mutation_p.H254R	p.H316R	NM_001207073.1|NM_001207074.1|NM_138344.4	NP_001194002.1|NP_001194003.1|NP_612353.3	Q8N9Y4	F181A_HUMAN			3	1254	+			316					B2RD39|Q96GY1	Missense_Mutation	SNP	ENST00000267594.5	37	c.947A>G	CCDS9914.1	.	.	.	.	.	.	.	.	.	.	A	14.57	2.574679	0.45902	.	.	ENSG00000140067	ENST00000557719;ENST00000267594;ENST00000556222;ENST00000557000	T;T;T	0.30714	1.52;1.52;1.52	4.74	0.67	0.17923	.	0.000000	0.39146	N	0.001452	T	0.35451	0.0932	L	0.56769	1.78	0.39132	D	0.961873	P	0.47677	0.899	P	0.48227	0.571	T	0.31138	-0.9954	10	0.40728	T	0.16	-11.9727	13.2747	0.60180	0.4584:0.5416:0.0:0.0	.	316	Q8N9Y4	F181A_HUMAN	R	254;316;254;305	ENSP00000451802:H254R;ENSP00000267594:H316R;ENSP00000451678:H254R	ENSP00000267594:H316R	H	+	2	0	FAM181A	93465145	0.927000	0.31430	0.998000	0.56505	0.815000	0.46073	0.578000	0.23773	0.183000	0.20059	0.459000	0.35465	CAC		0.667	FAM181A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000412840.1	NM_138344		15	57	0	0	0	1	0	15	57					G	94395392	A	G	94395392	3	3	309	1	0	0	0	0	1	0	0	0	5508	159	6	4	953	4	FAM181A	14	94395392	Missense_Mutation	SNP	A	TCGA-KK-A5A1-01A-11D-A29Q-08	46968629	94395392	12954148	78	15893											
AHNAK2	113146	broad.mit.edu	37	chr14	105405095	105405095	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccagtgtcaggctggagatCtccagaaatggagtctactc	10	10	11	10	0	3	2	1	0	2	2	6	4	4	3	2	3	1	1	2	3	2	1			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr14:105405095C>A	ENST00000333244.5	-	7	16812	c.16693G>T	c.(16693-16695)Gat>Tat	p.D5565Y	AHNAK2_ENST00000557457.1_Missense_Mutation_p.D563Y	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	5565						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GGCTGGAGATCTCCAGAAATG	0.502																																						ENST00000333244.5																			0				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33						c.(16693-16695)Gat>Tat		AHNAK nucleoprotein 2							78	74	75					14																	105405095		1939	4140	6079	SO:0001583	missense	113146					nucleus		g.chr14:105405095C>A	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"chromosome 14 open reading frame 78"	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.16693G>T	14.37:g.105405095C>A	ENSP00000353114:p.Asp5565Tyr					AHNAK2_ENST00000557457.1_Missense_Mutation_p.D563Y	p.D5565Y	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)		7	16812	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	5565					Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	ENST00000333244.5	37	c.16693G>T	CCDS45177.1	.	.	.	.	.	.	.	.	.	.	C	13.55	2.272169	0.40194	.	.	ENSG00000185567	ENST00000557457;ENST00000333244	T;T	0.03330	3.97;4.09	4.48	2.5	0.30297	.	1.126930	0.06945	U	0.813617	T	0.08802	0.0218	L	0.53249	1.67	0.09310	N	1	D	0.60160	0.987	P	0.55303	0.773	T	0.32798	-0.9893	10	0.66056	D	0.02	.	2.6326	0.04949	0.2238:0.4975:0.0:0.2787	.	5565	Q8IVF2	AHNK2_HUMAN	Y	563;5565	ENSP00000450998:D563Y;ENSP00000353114:D5565Y	ENSP00000353114:D5565Y	D	-	1	0	AHNAK2	104476140	0.005000	0.15991	0.005000	0.12908	0.022000	0.10575	1.241000	0.32743	0.861000	0.35504	0.655000	0.94253	GAT		0.502	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		5	32	1	0	1	1	1	5	32					A	105405095	C	A	105405095	3	1	309	1	0	0	0	0	1	0	0	0	415	913	32	5	698	5	AHNAK2	14	105405095	Missense_Mutation	SNP	C	TCGA-KK-A5A1-01A-11D-A29Q-08	11009703	105405095	1944445	79	15894			1	35		4	4	13556	N	G_C	2.622495e-05
AHNAK2	113146	broad.mit.edu	37	chr14	105409473	105409473	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ccatccagctttgctctcggGgcctggacgtccacctccat	5	10	9	17	2	1	0	0	0	1	0	5	1	4	1	6	3	2	2	6	3	0	1			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr14:105409473G>T	ENST00000333244.5	-	7	12434	c.12315C>A	c.(12313-12315)gcC>gcA	p.A4105A	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	4105						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			TTGCTCTCGGGGCCTGGACGT	0.577																																						ENST00000333244.5																			0				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33						c.(12313-12315)gcC>gcA		AHNAK nucleoprotein 2							185	193	191					14																	105409473		1955	4141	6096	SO:0001819	synonymous_variant	113146					nucleus		g.chr14:105409473G>T	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"chromosome 14 open reading frame 78"	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.12315C>A	14.37:g.105409473G>T						AHNAK2_ENST00000557457.1_Intron	p.A4105A	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)		7	12434	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	4105					Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Silent	SNP	ENST00000333244.5	37	c.12315C>A	CCDS45177.1																																																																																				0.577	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		147	233	1	0	1.33848e-58	1	1.68764e-58	147	233					T	105409473	G	T	105409473	2	4	309	1	0	0	0	0	0	0	0	1	415	1219	43	5		5	AHNAK2	14	105409473	Silent	SNP	G	TCGA-KK-A5A1-01A-11D-A29Q-08	4378	105409473	1940067	80	15895			1	35		4	4	13556	N	G_C	2.622495e-05
AHNAK2	113146	broad.mit.edu	37	chr14	105417976	105417976	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gacctttcaggtccagcttgGggcccctgacttccacctgg	5	10	11	15	0	1	1	1	1	0	0	3	2	3	1	6	4	1	1	6	4	0	3			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr14:105417976G>A	ENST00000333244.5	-	7	3931	c.3812C>T	c.(3811-3813)cCc>cTc	p.P1271L	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	1271						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GTCCAGCTTGGGGCCCCTGAC	0.622																																						ENST00000333244.5																			0				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33						c.(3811-3813)cCc>cTc		AHNAK nucleoprotein 2							75	63	67					14																	105417976		1794	3238	5032	SO:0001583	missense	113146					nucleus		g.chr14:105417976G>A	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"chromosome 14 open reading frame 78"	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.3812C>T	14.37:g.105417976G>A	ENSP00000353114:p.Pro1271Leu					AHNAK2_ENST00000557457.1_Intron	p.P1271L	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)		7	3931	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	1271					Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	ENST00000333244.5	37	c.3812C>T	CCDS45177.1	.	.	.	.	.	.	.	.	.	.	N	14.41	2.527615	0.44969	.	.	ENSG00000185567	ENST00000333244	T	0.03004	4.08	4.05	4.05	0.47172	.	.	.	.	.	T	0.18882	0.0453	M	0.85542	2.76	0.43255	D	0.995185	D	0.65815	0.995	D	0.68943	0.961	T	0.01326	-1.1384	9	0.62326	D	0.03	.	13.7127	0.62678	0.0:0.0:1.0:0.0	.	1271	Q8IVF2	AHNK2_HUMAN	L	1271	ENSP00000353114:P1271L	ENSP00000353114:P1271L	P	-	2	0	AHNAK2	104489021	0.055000	0.20627	0.869000	0.34112	0.115000	0.19883	1.896000	0.39789	1.822000	0.53115	0.313000	0.20887	CCC		0.622	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		6	220	0	0	0	1	0	6	220					A	105417976	G	A	105417976	3	1	309	1	0	0	0	0	1	0	0	0	415	1232	43	3	13579	3	AHNAK2	14	105417976	Missense_Mutation	SNP	G	TCGA-KK-A5A1-01A-11D-A29Q-08	8503	105417976	1931564	81	15896			1	35		4	4	13556	N	G_C	2.622495e-05
AHNAK2	113146	broad.mit.edu	37	chr14	105418650	105418650	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtagaagcaggctgaatgctGaggtcagtggtcttcaggtc	9	10	15	7	0	3	3	2	2	1	1	4	3	3	3	0	4	2	4	0	4	3	2			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr14:105418650G>A	ENST00000333244.5	-	7	3257	c.3138C>T	c.(3136-3138)ctC>ctT	p.L1046L	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	1046						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GCTGAATGCTGAGGTCAGTGG	0.617																																						ENST00000333244.5																			0				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33						c.(3136-3138)ctC>ctT		AHNAK nucleoprotein 2							110	122	118					14																	105418650		1991	4149	6140	SO:0001819	synonymous_variant	113146					nucleus		g.chr14:105418650G>A	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"chromosome 14 open reading frame 78"	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.3138C>T	14.37:g.105418650G>A						AHNAK2_ENST00000557457.1_Intron	p.L1046L	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)		7	3257	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	1046					Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Silent	SNP	ENST00000333244.5	37	c.3138C>T	CCDS45177.1																																																																																				0.617	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		36	181	0	0	0	1	0	36	181					A	105418650	G	A	105418650	2	1	309	1	0	0	0	0	0	0	0	1	415	1277	45	3		3	AHNAK2	14	105418650	Silent	SNP	G	TCGA-KK-A5A1-01A-11D-A29Q-08	674	105418650	1930890	82	15897			1	35		4	4	13556	N	G_C	2.622495e-05
CRIP1	1396	broad.mit.edu	37	chr14	105954583	105954583	+	Frame_Shift_Del	DEL	G	G	-																															gtgggaagacgctgacctctGggggccacgctgaggtaggt																										TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr14:105954583delG	ENST00000330233.7	+	2	1064	c.121delG	c.(121-123)gggfs	p.G42fs	CRIP1_ENST00000409393.2_Frame_Shift_Del_p.G42fs|C14orf80_ENST00000334656.7_5'Flank|C14orf80_ENST00000392527.1_5'Flank|C14orf80_ENST00000329886.7_5'Flank|CRIP1_ENST00000392531.3_Frame_Shift_Del_p.G42fs|CRIP1_ENST00000551180.1_Frame_Shift_Del_p.W9fs			P50238	CRIP1_HUMAN	cysteine-rich protein 1 (intestinal)	42	LIM zinc-binding. {ECO:0000255|PROSITE- ProRule:PRU00125}.				cell proliferation (GO:0008283)|cellular response to antibiotic (GO:0071236)|cellular response to UV-B (GO:0071493)|heart development (GO:0007507)|immune response (GO:0006955)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|prostate gland stromal morphogenesis (GO:0060741)|regulation of gene expression (GO:0010468)|response to organic substance (GO:0010033)|response to zinc ion (GO:0010043)	cytoplasm (GO:0005737)	AT DNA binding (GO:0003680)|DNA binding, bending (GO:0008301)|peptide binding (GO:0042277)|zinc ion binding (GO:0008270)						Melanoma(154;0.226)	OV - Ovarian serous cystadenocarcinoma(23;0.00596)|Epithelial(46;0.0188)	Epithelial(152;0.235)		GCTGACCTCTGGGGGCCACGC	0.652																																						ENST00000330233.7																			0											c.(121-123)ggfs		cysteine-rich protein 1 (intestinal)							54	63	60					14																	105954583		2203	4300	6503	SO:0001589	frameshift_variant	1396				cell proliferation	cytoplasm	zinc ion binding	g.chr14:105954583delG		CCDS10004.1	14q32.33	2004-06-18			ENSG00000213145	ENSG00000213145			2360	protein-coding gene	gene with protein product		123875				9480758	Standard	NM_001311		Approved	CRIP	uc001yri.4	P50238	OTTHUMG00000029908	ENST00000330233.7:c.121delG	14.37:g.105954583delG	ENSP00000332449:p.Gly42fs					CRIP1_ENST00000551180.1_Frame_Shift_Del_p.W9fs|CRIP1_ENST00000392531.3_Frame_Shift_Del_p.G42fs|CRIP1_ENST00000409393.2_Frame_Shift_Del_p.G42fs	p.G42fs			P50238	CRIP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.00596)|Epithelial(46;0.0188)	Epithelial(152;0.235)	2	1064	+		Melanoma(154;0.226)	42			LIM zinc-binding.		H3BPI2|Q13628|Q53XY7|Q96J34	Frame_Shift_Del	DEL	ENST00000330233.7	37	c.121delG	CCDS10004.1																																																																																				0.652	CRIP1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335466.2	NM_001311		10	94						10	94	---	---	---	---	-	105954583	G	-	105954583	7	5	309	1	0	1	0	1	0	0	0	0	3874	1348	47	0	127	0	CRIP1	14	105954583	Frame_Shift_Del	DEL	G	TCGA-KK-A5A1-01A-11D-A29Q-08	535933	105954583	1394957	83	15898											
VPS18	57617	broad.mit.edu	37	chr15	41192240	41192240	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tatctggacatgaaccgcttCgatctggccaaagagtattg	11	11	10	9	2	2	2	0	1	2	1	3	4	2	3	2	2	1	2	2	2	4	4			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr15:41192240C>T	ENST00000220509.5	+	4	1563	c.1224C>T	c.(1222-1224)ttC>ttT	p.F408F	VPS18_ENST00000558474.1_Intron	NM_020857.2	NP_065908.1	Q9P253	VPS18_HUMAN	vacuolar protein sorting 18 homolog (S. cerevisiae)	408					endosome organization (GO:0007032)|intracellular protein transport (GO:0006886)|lysosome organization (GO:0007040)|vesicle-mediated transport (GO:0016192)|viral entry into host cell (GO:0046718)	actin filament (GO:0005884)|early endosome (GO:0005769)|HOPS complex (GO:0030897)|lysosomal membrane (GO:0005765)	metal ion binding (GO:0046872)			autonomic_ganglia(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	28		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;1.07e-05)|COAD - Colon adenocarcinoma(120;0.15)|BRCA - Breast invasive adenocarcinoma(123;0.164)		TGAACCGCTTCGATCTGGCCA	0.632																																						ENST00000220509.5																			0				autonomic_ganglia(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	28						c.(1222-1224)ttC>ttT		vacuolar protein sorting 18 homolog (S. cerevisiae)							77	80	79					15																	41192240		2203	4300	6503	SO:0001819	synonymous_variant	57617				endosome organization|lysosome organization|protein transport	HOPS complex|late endosome membrane|lysosomal membrane	metal ion binding|protein binding	g.chr15:41192240C>T	AF308802	CCDS10069.1	15q14-q15	2006-12-19	2006-12-19		ENSG00000104142	ENSG00000104142			15972	protein-coding gene	gene with protein product		608551	"vacuolar protein sorting protein 18"			11250079, 16203730	Standard	NM_020857		Approved	KIAA1475, PEP3	uc001zne.3	Q9P253	OTTHUMG00000130135	ENST00000220509.5:c.1224C>T	15.37:g.41192240C>T						VPS18_ENST00000558474.1_Intron	p.F408F	NM_020857.2	NP_065908.1	Q9P253	VPS18_HUMAN		GBM - Glioblastoma multiforme(113;1.07e-05)|COAD - Colon adenocarcinoma(120;0.15)|BRCA - Breast invasive adenocarcinoma(123;0.164)	4	1563	+		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)	408					Q8TCG0|Q96DI3|Q9H268	Silent	SNP	ENST00000220509.5	37	c.1224C>T	CCDS10069.1																																																																																				0.632	VPS18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252443.2			7	106	0	0	0	1	0	7	106					T	41192240	C	T	41192240	2	4	309	1	0	0	0	0	0	0	0	1	17191	883	31	2		2	VPS18	15	41192240	Silent	SNP	C	TCGA-KK-A5A1-01A-11D-A29Q-08		41192240	61339152	84	15899											
LRRC28	123355	broad.mit.edu	37	chr15	99901591	99901591	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gaagctgctttccttttcatCagggcagcgaaccgttttcc	7	13	9	12	2	2	0	2	0	0	0	4	2	4	0	3	1	4	4	3	1	2	5			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr15:99901591C>T	ENST00000301981.3	+	8	986	c.746C>T	c.(745-747)tCa>tTa	p.S249L	LRRC28_ENST00000442993.2_3'UTR|LRRC28_ENST00000331450.5_Intron|LRRC28_ENST00000447360.2_Missense_Mutation_p.S249L|LRRC28_ENST00000558879.1_Intron|LRRC28_ENST00000422500.2_Missense_Mutation_p.S180L	NM_144598.2	NP_653199.2	Q86X40	LRC28_HUMAN	leucine rich repeat containing 28	249										endometrium(2)|large_intestine(3)|lung(6)|prostate(1)	12	Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00778)|Medulloblastoma(229;0.163)		OV - Ovarian serous cystadenocarcinoma(32;0.00106)			TCCTTTTCATCAGGGCAGCGA	0.488											OREG0023509	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000301981.3																			0				endometrium(2)|large_intestine(3)|lung(6)|prostate(1)	12						c.(745-747)tCa>tTa		leucine rich repeat containing 28							138	115	122					15																	99901591		2197	4297	6494	SO:0001583	missense	123355							g.chr15:99901591C>T	AK091588	CCDS10380.1, CCDS66873.1	15q26.3	2004-06-29			ENSG00000168904	ENSG00000168904			28355	protein-coding gene	gene with protein product						12975309	Standard	XM_005254861		Approved	MGC24976, FLJ34269, FLJ45242	uc002bva.1	Q86X40	OTTHUMG00000149854	ENST00000301981.3:c.746C>T	15.37:g.99901591C>T	ENSP00000304923:p.Ser249Leu		OREG0023509	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1347	LRRC28_ENST00000442993.2_3'UTR|LRRC28_ENST00000331450.5_Intron|LRRC28_ENST00000447360.2_Missense_Mutation_p.S249L|LRRC28_ENST00000422500.2_Missense_Mutation_p.S180L|LRRC28_ENST00000558879.1_Intron	p.S249L	NM_144598.2	NP_653199.2	Q86X40	LRC28_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.00106)		8	986	+	Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00778)|Medulloblastoma(229;0.163)		249					A8KA22|Q6UY49|Q6ZSS6	Missense_Mutation	SNP	ENST00000301981.3	37	c.746C>T	CCDS10380.1	.	.	.	.	.	.	.	.	.	.	C	13.52	2.261685	0.39995	.	.	ENSG00000168904	ENST00000301981;ENST00000447360;ENST00000422500	T;T;T	0.44482	2.16;0.92;1.47	5.25	4.33	0.51752	.	0.398309	0.27846	N	0.017604	T	0.52224	0.1721	L	0.43152	1.355	0.80722	D	1	D;D;D	0.63880	0.993;0.992;0.967	D;D;P	0.72338	0.977;0.974;0.879	T	0.43245	-0.9403	10	0.11485	T	0.65	.	14.6519	0.68803	0.1464:0.8535:0.0:0.0	.	180;249;249	B4DHL3;Q86X40-2;Q86X40	.;.;LRC28_HUMAN	L	249;249;180	ENSP00000304923:S249L;ENSP00000404520:S249L;ENSP00000398606:S180L	ENSP00000304923:S249L	S	+	2	0	LRRC28	97719114	0.998000	0.40836	0.874000	0.34290	0.981000	0.71138	4.285000	0.58989	1.328000	0.45358	0.655000	0.94253	TCA		0.488	LRRC28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313546.1	NM_144598		29	16	0	0	0	1	0	29	16					T	99901591	C	T	99901591	3	4	309	1	0	0	0	0	1	0	0	0	8982	838	29	3	772	3	LRRC28	15	99901591	Missense_Mutation	SNP	C	TCGA-KK-A5A1-01A-11D-A29Q-08	58709351	99901591	2629801	85	15900											
SMG1	23049	broad.mit.edu	37	chr16	18937327	18937327	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtgccgccgccgccgccgcCgctgctcagccgagaccccg	3	3	14	21	8	1	1	1	0	0	1	1	2	1	1	9	1	3	2	9	1	0	0			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr16:18937327C>T	ENST00000446231.2	-	1	449	c.37G>A	c.(37-39)Ggc>Agc	p.G13S	CTD-2288F12.1_ENST00000565782.1_RNA|SMG1_ENST00000567737.1_5'UTR|SMG1_ENST00000389467.3_Missense_Mutation_p.G13S			Q96Q15	SMG1_HUMAN	SMG1 phosphatidylinositol 3-kinase-related kinase	13	Interaction with SMG8 and SMG9.				DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol phosphorylation (GO:0046854)|protein autophosphorylation (GO:0046777)|response to stress (GO:0006950)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						ccgccgccgccgctgcTCAGC	0.736																																						ENST00000446231.2																			0				NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						c.(37-39)Ggc>Agc		SMG1 phosphatidylinositol 3-kinase-related kinase							2	3	3					16																	18937327		1046	2801	3847	SO:0001583	missense	23049				DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation	cytoplasm|nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr16:18937327C>T	AB061371	CCDS45430.1	16p12.3	2013-07-02	2013-07-02		ENSG00000157106	ENSG00000157106			30045	protein-coding gene	gene with protein product	"phosphatidylinositol 3-kinase-related kinase"	607032	"smg-1 homolog, phosphatidylinositol 3-kinase-related kinase (C. elegans)"			9455477, 11331269, 17229728	Standard	NM_015092		Approved	LIP, KIAA0421, ATX	uc002dfm.3	Q96Q15	OTTHUMG00000166900	ENST00000446231.2:c.37G>A	16.37:g.18937327C>T	ENSP00000402515:p.Gly13Ser					SMG1_ENST00000567737.1_5'UTR|SMG1_ENST00000389467.3_Missense_Mutation_p.G13S	p.G13S			Q96Q15	SMG1_HUMAN			1	449	-			13			Interaction with SMG8 and SMG9.		O43305|Q13284|Q8NFX2|Q96QV0|Q96RW3	Missense_Mutation	SNP	ENST00000446231.2	37	c.37G>A	CCDS45430.1	.	.	.	.	.	.	.	.	.	.	c	16.19	3.051895	0.55218	.	.	ENSG00000157106	ENST00000446231;ENST00000389467	T;T	0.01240	5.12;5.12	4.27	3.31	0.37934	.	0.832224	0.10596	N	0.656220	T	0.00998	0.0033	N	0.14661	0.345	0.31512	N	0.663496	B	0.22346	0.068	B	0.08055	0.003	T	0.29912	-0.9996	10	0.12766	T	0.61	.	6.0417	0.19738	0.0:0.7231:0.0:0.2769	.	13	Q96Q15	SMG1_HUMAN	S	13	ENSP00000402515:G13S;ENSP00000374118:G13S	ENSP00000374118:G13S	G	-	1	0	SMG1	18844828	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	2.149000	0.42244	0.999000	0.39023	0.455000	0.32223	GGC		0.736	SMG1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000391817.1	NM_015092		3	21	0	0	0	1	0	3	21					T	18937327	C	T	18937327	3	4	309	1	0	0	0	0	1	0	0	0	14795	652	23	2	11200	2	SMG1	16	18937327	Missense_Mutation	SNP	C	TCGA-KK-A5A1-01A-11D-A29Q-08		18937327	71417426	86	15901											
DNAH3	55567	broad.mit.edu	37	chr16	20975100	20975100	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagagagaagagtagcttgTccttctcaaacagagaacgg	14	7	13	7	1	1	4	1	0	1	4	3	7	2	4	1	2	3	2	1	2	4	3			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr16:20975100T>C	ENST00000261383.3	-	53	10105	c.10106A>G	c.(10105-10107)gAc>gGc	p.D3369G	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	3369					cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		GAGTAGCTTGTCCTTCTCAAA	0.488																																						ENST00000261383.3																			0				NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202						c.(10105-10107)gAc>gGc		dynein, axonemal, heavy chain 3							129	101	111					16																	20975100		2201	4300	6501	SO:0001583	missense	55567				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr16:20975100T>C	U83574	CCDS10594.1	16p12.2	2008-08-01	2006-09-04		ENSG00000158486	ENSG00000158486		"Axonemal dyneins"	2949	protein-coding gene	gene with protein product		603334	"dynein, axonemal, heavy polypeptide 3"			9256245, 9373155	Standard	NM_017539		Approved	Dnahc3b, DLP3, Hsadhc3, DKFZp434N074	uc010vbe.2	Q8TD57	OTTHUMG00000090677	ENST00000261383.3:c.10106A>G	16.37:g.20975100T>C	ENSP00000261383:p.Asp3369Gly					DNAH3_ENST00000415178.1_3'UTR	p.D3369G	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN		GBM - Glioblastoma multiforme(48;0.207)	53	10105	-			3369					O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Missense_Mutation	SNP	ENST00000261383.3	37	c.10106A>G	CCDS10594.1	.	.	.	.	.	.	.	.	.	.	T	20.3	3.975206	0.74360	.	.	ENSG00000158486	ENST00000261383	T	0.66280	-0.2	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	D	0.87589	0.6215	H	0.98721	4.31	0.80722	D	1	D	0.89917	1.0	D	0.74348	0.983	D	0.92255	0.5812	10	0.59425	D	0.04	.	16.1115	0.81266	0.0:0.0:0.0:1.0	.	3369	Q8TD57	DYH3_HUMAN	G	3369	ENSP00000261383:D3369G	ENSP00000261383:D3369G	D	-	2	0	DNAH3	20882601	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	8.040000	0.89188	2.207000	0.71202	0.460000	0.39030	GAC		0.488	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207361.1	NM_017539		5	121	0	0	0	1	0	5	121					C	20975100	T	C	20975100	3	2	309	1	0	0	0	0	1	0	0	0	4603	1667	58	4	2283	4	DNAH3	16	20975100	Missense_Mutation	SNP	T	TCGA-KK-A5A1-01A-11D-A29Q-08	2037773	20975100	69379653	87	15902											
CCDC102A	92922	broad.mit.edu	37	chr16	57550233	57550233	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cagcctgggccagctccttcTtgagctcctccacccgcagc	5	8	9	19	1	1	1	0	1	1	0	4	1	4	1	6	1	4	3	6	1	0	2			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr16:57550233T>C	ENST00000258214.2	-	7	1637	c.1391A>G	c.(1390-1392)aAg>aGg	p.K464R		NM_033212.3	NP_149989.2	Q96A19	C102A_HUMAN	coiled-coil domain containing 102A	464										endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)	8						CAGCTCCTTCTTGAGCTCCTC	0.667																																						ENST00000258214.2																			0				endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)	8						c.(1390-1392)aAg>aGg		coiled-coil domain containing 102A							64	49	54					16																	57550233		2198	4300	6498	SO:0001583	missense	92922							g.chr16:57550233T>C	BC008285	CCDS10784.1	16q13	2008-02-05			ENSG00000135736	ENSG00000135736			28097	protein-coding gene	gene with protein product						12477932	Standard	NM_033212		Approved	MGC10992	uc002elw.3	Q96A19	OTTHUMG00000133472	ENST00000258214.2:c.1391A>G	16.37:g.57550233T>C	ENSP00000258214:p.Lys464Arg						p.K464R	NM_033212.3	NP_149989.2	Q96A19	C102A_HUMAN			7	1637	-			464					Q9BT74	Missense_Mutation	SNP	ENST00000258214.2	37	c.1391A>G	CCDS10784.1	.	.	.	.	.	.	.	.	.	.	t	24.9	4.584145	0.86748	.	.	ENSG00000135736	ENST00000258214	T	0.78595	-1.19	3.97	3.97	0.46021	.	0.000000	0.85682	U	0.000000	D	0.85809	0.5783	M	0.70595	2.14	0.53005	D	0.999968	D	0.89917	1.0	D	0.85130	0.997	D	0.86527	0.1819	10	0.54805	T	0.06	-42.1566	12.2228	0.54443	0.0:0.0:0.0:1.0	.	464	Q96A19	C102A_HUMAN	R	464	ENSP00000258214:K464R	ENSP00000258214:K464R	K	-	2	0	CCDC102A	56107734	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.506000	0.81665	1.677000	0.50941	0.381000	0.24937	AAG		0.667	CCDC102A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257348.1	NM_033212		3	25	0	0	0	1	0	3	25					C	57550233	T	C	57550233	3	2	309	1	0	0	0	0	1	0	0	0	2736	1609	56	4	273	4	CCDC102A	16	57550233	Missense_Mutation	SNP	T	TCGA-KK-A5A1-01A-11D-A29Q-08	36575133	57550233	32804520	88	15903											
TERF2IP	54386	broad.mit.edu	37	chr16	75690150	75690150	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaatacatataactatgtgtGatgatgatccacccacacct	15	11	5	10	0	0	3	0	3	0	0	1	3	1	3	3	0	2	0	3	0	5	4			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr16:75690150G>A	ENST00000300086.4	+	3	938	c.841G>A	c.(841-843)Gat>Aat	p.D281N		NM_018975.3	NP_061848.2	Q9NYB0	TE2IP_HUMAN	telomeric repeat binding factor 2, interacting protein	281	Asp/Glu-rich (acidic).				negative regulation of DNA recombination at telomere (GO:0048239)|negative regulation of telomere maintenance (GO:0032205)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protection from non-homologous end joining at telomere (GO:0031848)|protein localization to chromosome, telomeric region (GO:0070198)|regulation of double-strand break repair via homologous recombination (GO:0010569)|regulation of transcription, DNA-templated (GO:0006355)|telomere maintenance (GO:0000723)|telomere maintenance via telomerase (GO:0007004)|telomere maintenance via telomere lengthening (GO:0010833)|transcription, DNA-templated (GO:0006351)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nuclear chromosome (GO:0000228)|nuclear chromosome, telomeric region (GO:0000784)|nuclear telomere cap complex (GO:0000783)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1)	5						AACTATGTGTGATGATGATCC	0.433																																						ENST00000300086.4																			0				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1)	5						c.(841-843)Gat>Aat		telomeric repeat binding factor 2, interacting protein							90	92	91					16																	75690150		2198	4300	6498	SO:0001583	missense	54386				negative regulation of DNA recombination at telomere|negative regulation of telomere maintenance|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protection from non-homologous end joining at telomere|protein localization to chromosome, telomeric region|regulation of double-strand break repair via homologous recombination|telomere maintenance via telomerase|transcription, DNA-dependent	cytoplasm|nuclear telomere cap complex|nucleoplasm	DNA binding|protein binding	g.chr16:75690150G>A	AK000669	CCDS32491.1	16q23.1	2012-10-03			ENSG00000166848	ENSG00000166848			19246	protein-coding gene	gene with protein product		605061				10850490	Standard	NM_018975		Approved	RAP1	uc002fet.2	Q9NYB0	OTTHUMG00000177136	ENST00000300086.4:c.841G>A	16.37:g.75690150G>A	ENSP00000300086:p.Asp281Asn						p.D281N	NM_018975.3	NP_061848.2	Q9NYB0	TE2IP_HUMAN			3	938	+			281			Asp/Glu-rich (acidic).		B4DQN4|Q4W4Y2|Q8WYZ3|Q9NWR2	Missense_Mutation	SNP	ENST00000300086.4	37	c.841G>A	CCDS32491.1	.	.	.	.	.	.	.	.	.	.	G	17.27	3.347609	0.61183	.	.	ENSG00000166848	ENST00000300086	T	0.47528	0.84	5.02	4.06	0.47325	.	0.300687	0.34986	N	0.003528	T	0.24624	0.0597	N	0.08118	0	0.34334	D	0.688002	B	0.21452	0.056	B	0.19148	0.024	T	0.24225	-1.0166	10	0.17832	T	0.49	-23.4016	10.949	0.47317	0.0914:0.0:0.9086:0.0	.	281	Q9NYB0	TE2IP_HUMAN	N	281	ENSP00000300086:D281N	ENSP00000300086:D281N	D	+	1	0	TERF2IP	74247651	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.731000	0.38135	2.760000	0.94817	0.591000	0.81541	GAT		0.433	TERF2IP-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000435519.1	NM_018975		34	55	0	0	0	1	0	34	55					A	75690150	G	A	75690150	3	1	309	1	0	0	0	0	1	0	0	0	15760	1290	45	3	851	3	TERF2IP	16	75690150	Missense_Mutation	SNP	G	TCGA-KK-A5A1-01A-11D-A29Q-08	18139917	75690150	14664603	89	15904											
DVL2	1856	broad.mit.edu	37	chr17	7137547	7137547	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ggtaaatcaccttcgtctccCcaaccccaccgcccccagtg	8	7	6	20	2	2	0	1	0	1	0	4	0	2	0	8	1	1	1	8	1	3	2			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr17:7137547C>T	ENST00000005340.5	-	1	317	c.35G>A	c.(34-36)gGg>gAg	p.G12E	DVL2_ENST00000575458.1_Missense_Mutation_p.G12E|PHF23_ENST00000570753.1_5'Flank	NM_004422.2	NP_004413.1	O14641	DVL2_HUMAN	dishevelled segment polarity protein 2	12	DIX. {ECO:0000255|PROSITE- ProRule:PRU00069}.|Poly-Gly.				canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in regulation of cell proliferation (GO:0044340)|cell migration in hindbrain (GO:0021535)|cellular protein localization (GO:0034613)|cochlea morphogenesis (GO:0090103)|convergent extension (GO:0060026)|convergent extension involved in neural plate elongation (GO:0022007)|heart development (GO:0007507)|heart morphogenesis (GO:0003007)|hippo signaling (GO:0035329)|neural tube closure (GO:0001843)|non-canonical Wnt signaling pathway (GO:0035567)|outflow tract morphogenesis (GO:0003151)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription, DNA-templated (GO:0045893)|segment specification (GO:0007379)|transcription from RNA polymerase II promoter (GO:0006366)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	apical part of cell (GO:0045177)|cell cortex (GO:0005938)|clathrin-coated endocytic vesicle (GO:0045334)|clathrin-coated vesicle (GO:0030136)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	frizzled binding (GO:0005109)|identical protein binding (GO:0042802)			breast(2)|endometrium(3)|kidney(1)|large_intestine(11)|lung(7)|skin(1)	25						CTTCGTCTCCCCAACCCCACC	0.667																																						ENST00000005340.5																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(11)|lung(7)|skin(1)	25						c.(34-36)gGg>gAg		dishevelled segment polarity protein 2							80	73	76					17																	7137547		2203	4300	6503	SO:0001583	missense	1856				canonical Wnt receptor signaling pathway involved in regulation of cell proliferation|intracellular signal transduction|neural tube closure|positive regulation of JUN kinase activity|positive regulation of protein phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|segment specification|transcription from RNA polymerase II promoter	cytosol|nucleus|plasma membrane	frizzled binding|identical protein binding|signal transducer activity	g.chr17:7137547C>T	BC014844	CCDS11091.1	17p13.1	2013-05-22	2013-05-22		ENSG00000004975	ENSG00000004975		"Dishevelled homologs"	3086	protein-coding gene	gene with protein product		602151	"dishevelled 2 (homologous to Drosophila dsh)", "dishevelled, dsh homolog 2 (Drosophila)"			8662242	Standard	NM_004422		Approved		uc002gez.1	O14641	OTTHUMG00000102155	ENST00000005340.5:c.35G>A	17.37:g.7137547C>T	ENSP00000005340:p.Gly12Glu					DVL2_ENST00000575458.1_Missense_Mutation_p.G12E	p.G12E	NM_004422.2	NP_004413.1	O14641	DVL2_HUMAN			1	317	-			12			DIX.|Poly-Gly.		D3DTN3|Q53XM0	Missense_Mutation	SNP	ENST00000005340.5	37	c.35G>A	CCDS11091.1	.	.	.	.	.	.	.	.	.	.	C	17.93	3.509939	0.64522	.	.	ENSG00000004975	ENST00000005340	T	0.40756	1.02	4.51	4.51	0.55191	DIX (2);	0.074988	0.53938	D	0.000054	T	0.37183	0.0994	N	0.10664	0.02	0.39122	D	0.961674	P;D;P	0.69078	0.952;0.997;0.952	P;D;P	0.69142	0.822;0.962;0.822	T	0.17410	-1.0370	10	0.02654	T	1	-18.0128	14.6985	0.69139	0.0:1.0:0.0:0.0	.	12;12;12	B4DLQ0;B4E2D6;O14641	.;.;DVL2_HUMAN	E	12	ENSP00000005340:G12E	ENSP00000005340:G12E	G	-	2	0	DVL2	7078271	1.000000	0.71417	0.995000	0.50966	0.983000	0.72400	1.723000	0.38053	2.055000	0.61198	0.484000	0.47621	GGG		0.667	DVL2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000219999.2	NM_004422		8	100	0	0	0	1	0	8	100					T	7137547	C	T	7137547	3	4	309	1	0	0	0	0	1	0	0	0	4836	623	22	3	2235	3	DVL2	17	7137547	Missense_Mutation	SNP	C	TCGA-KK-A5A1-01A-11D-A29Q-08		7137547	74057663	90	15905											
CNTROB	116840	broad.mit.edu	37	chr17	7842864	7842864	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aagctctgactctgaggttgGaggcagaacagcagcggtgc	10	7	15	9	1	2	3	0	2	2	1	2	4	2	4	0	4	5	4	0	4	2	1			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr17:7842864G>T	ENST00000563694.1	+	8	1886	c.961G>T	c.(961-963)Gag>Tag	p.E321*	CNTROB_ENST00000380262.3_Nonsense_Mutation_p.E321*|CNTROB_ENST00000565740.1_Nonsense_Mutation_p.E321*|CNTROB_ENST00000380255.3_Nonsense_Mutation_p.E321*	NM_053051.3	NP_444279.2	Q8N137	CNTRB_HUMAN	centrobin, centrosomal BRCA2 interacting protein	321					centriole replication (GO:0007099)|centrosome separation (GO:0051299)|cytokinesis (GO:0000910)	centriole (GO:0005814)|centrosome (GO:0005813)|cytoplasm (GO:0005737)	protein domain specific binding (GO:0019904)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)	25		Prostate(122;0.173)				TCTGAGGTTGGAGGCAGAACA	0.582																																						ENST00000380262.3																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)	25						c.(961-963)Gag>Tag		centrobin, centrosomal BRCA2 interacting protein							96	91	92					17																	7842864		2203	4300	6503	SO:0001587	stop_gained	116840				centriole replication|centrosome separation|cytokinesis	centriole	protein domain specific binding	g.chr17:7842864G>T	AF331638	CCDS32557.1, CCDS11126.1	17p13.1	2006-03-15				ENSG00000170037			29616	protein-coding gene	gene with protein product	"centrobin"	611425				11984006, 16275750	Standard	NM_001037144		Approved	LIP8, PP1221	uc002gjp.3	Q8N137		ENST00000563694.1:c.961G>T	17.37:g.7842864G>T	ENSP00000456335:p.Glu321*					CNTROB_ENST00000380255.3_Nonsense_Mutation_p.E321*|CNTROB_ENST00000563694.1_Nonsense_Mutation_p.E321*|CNTROB_ENST00000565740.1_Nonsense_Mutation_p.E321*	p.E321*	NM_001037144.5	NP_001032221.1	Q8N137	CNTRB_HUMAN			8	1886	+		Prostate(122;0.173)	321					A6NHQ1|Q331K3|Q69YV7|Q8NCB8|Q8WXV3|Q96CQ7|Q9C060	Nonsense_Mutation	SNP	ENST00000563694.1	37	c.961G>T	CCDS11126.1	.	.	.	.	.	.	.	.	.	.	G	41	8.992366	0.99029	.	.	ENSG00000170037	ENST00000380262;ENST00000380255	.	.	.	5.36	5.36	0.76844	.	0.114128	0.39475	N	0.001348	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.40728	T	0.16	-13.6009	13.5889	0.61948	0.0:0.1562:0.8438:0.0	.	.	.	.	X	321	.	ENSP00000369605:E321X	E	+	1	0	CNTROB	7783589	1.000000	0.71417	1.000000	0.80357	0.055000	0.15305	4.129000	0.57957	2.522000	0.85027	0.313000	0.20887	GAG		0.582	CNTROB-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000421372.1	NM_053051		24	110	1	0	1.42536e-11	1	1.73678e-11	24	110					T	7842864	G	T	7842864	4	4	309	1	0	0	0	0	0	1	0	0	3651	1175	41	5	991	5	CNTROB	17	7842864	Nonsense_Mutation	SNP	G	TCGA-KK-A5A1-01A-11D-A29Q-08	705317	7842864	73352346	91	15906											
MYH13	8735	broad.mit.edu	37	chr17	10265435	10265435	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaatcaaagaaattactcacCagtcagcatgaactgatagg	17	8	8	8	0	3	3	3	2	0	1	3	4	3	3	1	1	3	1	1	1	6	2			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr17:10265435C>A	ENST00000418404.3	-	4	668	c.505G>T	c.(505-507)Gat>Tat	p.D169Y	MYH13_ENST00000252172.4_Splice_Site_p.D169Y			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	169	Myosin motor.				cellular response to starvation (GO:0009267)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)	extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						AATTACTCACCAGTCAGCATG	0.468																																						ENST00000418404.3																			0				breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						c.e4+1		myosin, heavy chain 13, skeletal muscle							112	123	119					17																	10265435		2203	4300	6503	SO:0001630	splice_region_variant	8735				muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr17:10265435C>A	AF075248	CCDS45613.1	17p13	2011-09-27	2006-09-29			ENSG00000006788		"Myosins / Myosin superfamily : Class II"	7571	protein-coding gene	gene with protein product	"extraocular muscle myosin heavy chain", "extraocular myosin heavy chain"	603487	"myosin, heavy polypeptide 13, skeletal muscle"			9806854	Standard	NM_003802		Approved	MyHC-eo	uc002gmk.1	Q9UKX3		ENST00000418404.3:c.505+1G>T	17.37:g.10265435C>A						MYH13_ENST00000252172.4_Splice_Site_p.D169_splice|MYH13_ENST00000570743.1_Splice_Site_p.D169_splice	p.D169_splice			Q9UKX3	MYH13_HUMAN			4	668	-			169			Myosin head-like.		O95252|Q9P0U8	Splice_Site	SNP	ENST00000418404.3	37	c.505_splice	CCDS45613.1	.	.	.	.	.	.	.	.	.	.	C	16.04	3.009811	0.54361	.	.	ENSG00000006788	ENST00000252172	D	0.88277	-2.36	3.32	3.32	0.38043	Myosin head, motor domain (2);	.	.	.	.	D	0.94528	0.8238	M	0.88906	2.99	0.52501	D	0.999955	D	0.89917	1.0	D	0.80764	0.994	D	0.94888	0.8045	8	.	.	.	.	12.9084	0.58166	0.0:1.0:0.0:0.0	.	169	Q9UKX3	MYH13_HUMAN	Y	169	ENSP00000252172:D169Y	.	D	-	1	0	MYH13	10206160	1.000000	0.71417	0.953000	0.39169	0.480000	0.33159	4.692000	0.61746	2.164000	0.68074	0.313000	0.20887	GAT		0.468	MYH13-003	KNOWN	alternative_3_UTR|alternative_5_UTR|NMD_exception|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442255.1	NM_003802	Missense_Mutation	8	188	1	0	1.58986e-06	1	1.82961e-06	8	188					A	10265435	C	A	10265435	5	1	309	1	0	0	0	0	0	0	1	0	10032	608	21	5	5459	5	MYH13	17	10265435	Splice_Site	SNP	C	TCGA-KK-A5A1-01A-11D-A29Q-08	2422571	10265435	70929775	92	15907											
RPL19	6143	broad.mit.edu	37	chr17	37357515	37357517	+	In_Frame_Del	DEL	AAG	AAG	-																															ctagtgtcctccgctgtggcAagaagaaggtctggttagac																										TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr17:37357515_37357517delAAG	ENST00000225430.4	+	2	117_119	c.55_57delAAG	c.(55-57)aagdel	p.K21del	RPL19_ENST00000582193.1_In_Frame_Del_p.K19del|RPL19_ENST00000579374.1_In_Frame_Del_p.K18del|RPL19_ENST00000579260.1_In_Frame_Del_p.K19del	NM_000981.3	NP_000972.1	P84098	RL19_HUMAN	ribosomal protein L19	21					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			kidney(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	7						CCGCTGTGGCAAGAAGAAGGTCT	0.493																																						ENST00000579260.1																			0				kidney(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	7						c.(49-51)del		ribosomal protein L19																																				SO:0001651	inframe_deletion	6143				endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	RNA binding|structural constituent of ribosome	g.chr17:37357515_37357517delAAG		CCDS42312.1	17q12	2012-09-20			ENSG00000108298	ENSG00000108298		"L ribosomal proteins"	10312	protein-coding gene	gene with protein product	"60S ribosomal protein L19", "ribosomal protein L19, cytosolic, N-terminus truncated"	180466				1577483	Standard	XM_005257564		Approved	FLJ27452, MGC71997, DKFZp779D216, L19	uc002hrq.1	P84098	OTTHUMG00000178979	ENST00000225430.4:c.55_57delAAG	17.37:g.37357521_37357523delAAG	ENSP00000225430:p.Lys21del					RPL19_ENST00000225430.4_In_Frame_Del_p.K21del|RPL19_ENST00000579374.1_In_Frame_Del_p.K18del|RPL19_ENST00000582193.1_In_Frame_Del_p.K19del	p.K19del			P84098	RL19_HUMAN			2	452_454	+			21					B2R4K2|P14118|P22908|Q502Y6|Q7Z6E4	In_Frame_Del	DEL	ENST00000225430.4	37	c.49_51delAAG	CCDS42312.1																																																																																				0.493	RPL19-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000444190.1	NM_000981		18	127						18	127	---	---	---	---	-	37357517	AAG	-	37357515	7	5	309	1	0	1	0	1	0	0	0	0	13566	131	5	0	61	0	RPL19	17	37357515	In_Frame_Del	DEL	AAG	TCGA-KK-A5A1-01A-11D-A29Q-08	27092080	37357515	43837695	93	15908											
CDK12	51755	broad.mit.edu	37	chr17	37619371	37619371	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agtcggagtccactccccagGtgagctatttgtctaacagt	9	11	10	11	1	1	1	0	1	1	0	4	2	3	2	3	2	2	1	3	2	2	3			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr17:37619371G>A	ENST00000447079.4	+	1	1079		c.e1+1		CDK12_ENST00000430627.2_Splice_Site	NM_015083.1|NM_016507.2	NP_055898.1|NP_057591.2	Q9NYV4	CDK12_HUMAN	cyclin-dependent kinase 12						mRNA processing (GO:0006397)|phosphorylation of RNA polymerase II C-terminal domain (GO:0070816)|protein autophosphorylation (GO:0046777)|regulation of MAP kinase activity (GO:0043405)|RNA splicing (GO:0008380)	cyclin K-CDK12 complex (GO:0002944)|nuclear cyclin-dependent protein kinase holoenzyme complex (GO:0019908)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cyclin binding (GO:0030332)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)			NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3)	70						CACTCCCCAGGTGAGCTATTT	0.552			"Mis, N, F"		serous ovarian					TCGA Ovarian(9;0.13)																												ENST00000447079.4				Rec	yes		17	17q12	51755	"Mis, N, F"	cyclin-dependent kinase 12			E			serous ovarian		0				NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3)	70						c.e1+1		cyclin-dependent kinase 12							56	54	55					17																	37619371		2203	4300	6503	SO:0001630	splice_region_variant	51755				mRNA processing|phosphorylation of RNA polymerase II C-terminal domain|protein autophosphorylation|regulation of MAP kinase activity|RNA splicing	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck|nucleolus	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity	g.chr17:37619371G>A	AF227198	CCDS11337.1, CCDS45666.1	17q12	2011-10-25	2009-12-16	2009-12-16	ENSG00000167258	ENSG00000167258		"Cyclin-dependent kinases"	24224	protein-coding gene	gene with protein product	"CDC2 related protein kinase 7"	615514	"Cdc2-related kinase, arginine/serine-rich"	CRKRS		10048485, 11683387, 19884882	Standard	XM_005257456		Approved	CRK7, CRKR, KIAA0904	uc010cvv.3	Q9NYV4	OTTHUMG00000133214	ENST00000447079.4:c.1046+1G>A	17.37:g.37619371G>A		TCGA Ovarian(9;0.13)				CDK12_ENST00000430627.2_Splice_Site		NM_015083.1|NM_016507.2	NP_055898.1|NP_057591.2	Q9NYV4	CDK12_HUMAN			1	1079	+								A7E2B2|B4DYX4|B9EIQ6|O94978	Splice_Site	SNP	ENST00000447079.4	37		CCDS11337.1	.	.	.	.	.	.	.	.	.	.	G	20.5	4.003175	0.74932	.	.	ENSG00000167258	ENST00000430627;ENST00000447079	.	.	.	5.3	5.3	0.74995	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.9741	0.92728	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CDK12	34872897	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	8.467000	0.90390	2.490000	0.84030	0.655000	0.94253	.		0.552	CDK12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256941.4	NM_016507	Intron	18	43	0	0	0	1	0	18	43					A	37619371	G	A	37619371	5	1	309	1	0	0	0	0	0	0	1	0	3128	1275	44	3	1049	3	CDK12	17	37619371	Splice_Site	SNP	G	TCGA-KK-A5A1-01A-11D-A29Q-08	261856	37619371	43575839	94	15909											
CDK12	51755	broad.mit.edu	37	chr17	37627847	37627860	+	Frame_Shift_Del	DEL	ACTCACTCAAAGAC	ACTCACTCAAAGAC	-																															cttcaactttgcccccttctActcactcaaagacatctgct																								rs373485018		TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr17:37627847_37627860delACTCACTCAAAGAC	ENST00000447079.4	+	2	1795_1808	c.1762_1775delACTCACTCAAAGAC	c.(1762-1776)actcactcaaagacafs	p.THSKT588fs	CDK12_ENST00000430627.2_Frame_Shift_Del_p.THSKT588fs	NM_015083.1|NM_016507.2	NP_055898.1|NP_057591.2	Q9NYV4	CDK12_HUMAN	cyclin-dependent kinase 12	588					mRNA processing (GO:0006397)|phosphorylation of RNA polymerase II C-terminal domain (GO:0070816)|protein autophosphorylation (GO:0046777)|regulation of MAP kinase activity (GO:0043405)|RNA splicing (GO:0008380)	cyclin K-CDK12 complex (GO:0002944)|nuclear cyclin-dependent protein kinase holoenzyme complex (GO:0019908)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cyclin binding (GO:0030332)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)			NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3)	70						GCCCCCTTCTACTCACTCAAAGACATCTGCTGTG	0.491			"Mis, N, F"		serous ovarian					TCGA Ovarian(9;0.13)																												ENST00000447079.4				Rec	yes		17	17q12	51755	"Mis, N, F"	cyclin-dependent kinase 12			E			serous ovarian		0				NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3)	70						c.(1762-1776)afs		cyclin-dependent kinase 12																																				SO:0001589	frameshift_variant	51755				mRNA processing|phosphorylation of RNA polymerase II C-terminal domain|protein autophosphorylation|regulation of MAP kinase activity|RNA splicing	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck|nucleolus	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity	g.chr17:37627847_37627860delACTCACTCAAAGAC	AF227198	CCDS11337.1, CCDS45666.1	17q12	2011-10-25	2009-12-16	2009-12-16	ENSG00000167258	ENSG00000167258		"Cyclin-dependent kinases"	24224	protein-coding gene	gene with protein product	"CDC2 related protein kinase 7"	615514	"Cdc2-related kinase, arginine/serine-rich"	CRKRS		10048485, 11683387, 19884882	Standard	XM_005257456		Approved	CRK7, CRKR, KIAA0904	uc010cvv.3	Q9NYV4	OTTHUMG00000133214	ENST00000447079.4:c.1762_1775delACTCACTCAAAGAC	17.37:g.37627847_37627860delACTCACTCAAAGAC	ENSP00000398880:p.Thr588fs	TCGA Ovarian(9;0.13)				CDK12_ENST00000430627.2_Frame_Shift_Del_p.THSKT588fs	p.THSKT588fs	NM_015083.1|NM_016507.2	NP_055898.1|NP_057591.2	Q9NYV4	CDK12_HUMAN			2	1795_1808	+			588					A7E2B2|B4DYX4|B9EIQ6|O94978	Frame_Shift_Del	DEL	ENST00000447079.4	37	c.1762_1775delACTCACTCAAAGAC	CCDS11337.1																																																																																				0.491	CDK12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256941.4	NM_016507		78	170						78	170	---	---	---	---	-	37627860	ACTCACTCAAAGAC	-	37627847	7	5	309	1	0	1	0	1	0	0	0	0	3128	391	14	0	1768	0	CDK12	17	37627847	Frame_Shift_Del	DEL	ACTCACTCAAAGAC	TCGA-KK-A5A1-01A-11D-A29Q-08	8476	37627847	43567363	95	15910											
KRT23	25984	broad.mit.edu	37	chr17	39092708	39092708	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccagggggtgggcagctccGcgtggtgaaggacagggaga	8	5	20	8	2	0	2	0	1	0	1	2	4	2	3	2	6	1	2	2	6	1	0			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr17:39092708G>A	ENST00000209718.3	-	2	572	c.148C>T	c.(148-150)Cgg>Tgg	p.R50W	AC004231.2_ENST00000418393.1_RNA|KRT23_ENST00000436344.3_Intron|KRT23_ENST00000582283.1_5'Flank	NM_015515.3	NP_056330.3	Q9C075	K1C23_HUMAN	keratin 23 (histone deacetylase inducible)	50	Head.					intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21		Breast(137;0.000301)|Ovarian(249;0.15)				GGGCAGCTCCGCGTGGTGAAG	0.687																																						ENST00000209718.3																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21						c.(148-150)Cgg>Tgg		keratin 23 (histone deacetylase inducible)							44	50	48					17																	39092708		2203	4300	6503	SO:0001583	missense	25984					intermediate filament	structural molecule activity	g.chr17:39092708G>A	AF102848	CCDS11380.1, CCDS62182.1	17q21.2	2013-01-16			ENSG00000108244	ENSG00000108244		"-", "Intermediate filaments type I, keratins (acidic)"	6438	protein-coding gene	gene with protein product		606194				11135429, 16831889	Standard	NM_015515		Approved	K23, DKFZP434G032, HAIK1, CK23, MGC26158	uc002hvm.1	Q9C075	OTTHUMG00000133376	ENST00000209718.3:c.148C>T	17.37:g.39092708G>A	ENSP00000209718:p.Arg50Trp					KRT23_ENST00000436344.3_Intron|AC004231.2_ENST00000418393.1_RNA	p.R50W	NM_015515.3	NP_056330.3	Q9C075	K1C23_HUMAN			2	572	-		Breast(137;0.000301)|Ovarian(249;0.15)	50			Head.		A8K084|B7Z7J2|I3L3Q6|Q9NUR6	Missense_Mutation	SNP	ENST00000209718.3	37	c.148C>T	CCDS11380.1	.	.	.	.	.	.	.	.	.	.	G	9.435	1.086644	0.20390	.	.	ENSG00000108244	ENST00000209718	D	0.83250	-1.7	5.73	4.57	0.56435	.	0.115763	0.39210	N	0.001440	T	0.68044	0.2958	N	0.08118	0	0.21675	N	0.999592	D	0.62365	0.991	B	0.44315	0.446	T	0.63005	-0.6733	10	0.38643	T	0.18	.	11.1175	0.48268	0.0777:0.1318:0.7904:0.0	.	50	Q9C075	K1C23_HUMAN	W	50	ENSP00000209718:R50W	ENSP00000209718:R50W	R	-	1	2	KRT23	36346234	0.981000	0.34729	0.107000	0.21349	0.172000	0.22775	3.131000	0.50515	2.707000	0.92482	0.557000	0.71058	CGG		0.687	KRT23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257223.1			7	147	0	0	0	1	0	7	147					A	39092708	G	A	39092708	3	1	309	1	0	0	0	0	1	0	0	0	8460	1086	38	1	1152	1	KRT23	17	39092708	Missense_Mutation	SNP	G	TCGA-KK-A5A1-01A-11D-A29Q-08	1464861	39092708	42102502	96	15911											
SLC4A1	6521	broad.mit.edu	37	chr17	42333044	42333044	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggagggtatgctgaccttGccagggaaataggagctgtt	10	9	16	6	0	0	1	0	1	0	0	0	5	0	4	2	4	3	4	2	4	3	4			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr17:42333044G>T	ENST00000262418.6	-	14	1952	c.1797C>A	c.(1795-1797)ggC>ggA	p.G599G	AC003043.1_ENST00000597382.1_5'Flank	NM_000342.3	NP_000333.1	P02730	B3AT_HUMAN	solute carrier family 4 (anion exchanger), member 1 (Diego blood group)	599	Involved in anion transport.|Membrane (anion exchange).				anion transport (GO:0006820)|bicarbonate transport (GO:0015701)|cellular ion homeostasis (GO:0006873)|chloride transport (GO:0006821)|ion transport (GO:0006811)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|blood microparticle (GO:0072562)|cortical cytoskeleton (GO:0030863)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|Z disc (GO:0030018)	anion transmembrane transporter activity (GO:0008509)|anion:anion antiporter activity (GO:0015301)|ankyrin binding (GO:0030506)|bicarbonate transmembrane transporter activity (GO:0015106)|chloride transmembrane transporter activity (GO:0015108)|inorganic anion exchanger activity (GO:0005452)|protein anchor (GO:0043495)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	40		Breast(137;0.014)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.115)		TGCTGACCTTGCCAGGGAAAT	0.577																																						ENST00000262418.6																			0				central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	40						c.(1795-1797)ggC>ggA		solute carrier family 4 (anion exchanger), member 1							105	92	96					17																	42333044		2203	4300	6503	SO:0001819	synonymous_variant	6521				bicarbonate transport|cellular ion homeostasis	basolateral plasma membrane|cortical cytoskeleton|integral to plasma membrane|Z disc	ankyrin binding|chloride transmembrane transporter activity|inorganic anion exchanger activity|protein anchor|protein homodimerization activity	g.chr17:42333044G>T		CCDS11481.1	17q21.31	2014-07-19	2014-01-02		ENSG00000004939	ENSG00000004939		"CD molecules", "Blood group antigens", "Solute carriers"	11027	protein-coding gene	gene with protein product	"Froese blood group", "Swann blood group", "Wright blood group"	109270	"Waldner blood group", "erythrocyte membrane protein band 3", "Diego blood group", "solute carrier family 4, anion exchanger, member 1 (erythrocyte membrane protein band 3, Diego blood group)", "solute carrier family 4 (anion exchanger), member 1"	EPB3, AE1, DI, WD		8434259	Standard	NM_000342		Approved	RTA1A, CD233, FR, SW, WR	uc002igf.4	P02730	OTTHUMG00000156843	ENST00000262418.6:c.1797C>A	17.37:g.42333044G>T							p.G599G	NM_000342.3	NP_000333.1	P02730	B3AT_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.115)	14	1952	-		Breast(137;0.014)|Prostate(33;0.0181)	599			Involved in anion transport.|Membrane (anion exchange).		G4V2I6|P78487|Q1ZZ45|Q4KKW9|Q4VB84|Q9UCY7|Q9UDJ1	Silent	SNP	ENST00000262418.6	37	c.1797C>A	CCDS11481.1																																																																																				0.577	SLC4A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346194.1	NM_000342		8	62	1	0	3.09899e-07	1	3.59482e-07	8	62					T	42333044	G	T	42333044	2	4	309	1	0	0	0	0	0	0	0	1	14650	1306	46	5		5	SLC4A1	17	42333044	Silent	SNP	G	TCGA-KK-A5A1-01A-11D-A29Q-08	3240336	42333044	38862166	97	15912											
HOXB8	3218	broad.mit.edu	37	chr17	46692051	46692051	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttggagaacagtgagttgaCgaaataagagctcattttat	14	13	10	4	1	1	4	1	2	0	2	1	6	1	4	0	1	2	2	0	1	4	5			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr17:46692051C>T	ENST00000239144.4	-	1	250	c.16G>A	c.(16-18)Gtc>Atc	p.V6I	HOXB8_ENST00000576562.1_Missense_Mutation_p.V6I|HOXB7_ENST00000567101.2_Intron	NM_024016.3	NP_076921.1	P17481	HXB8_HUMAN	homeobox B8	6					adult locomotory behavior (GO:0008344)|anterior/posterior pattern specification (GO:0009952)|dorsal spinal cord development (GO:0021516)|embryonic skeletal system morphogenesis (GO:0048704)|grooming behavior (GO:0007625)|negative regulation of myeloid cell differentiation (GO:0045638)|sensory perception of pain (GO:0019233)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			large_intestine(1)|lung(8)|urinary_tract(2)	11						AGTGAGTTGACGAAATAAGAG	0.592																																						ENST00000239144.4																			0				large_intestine(1)|lung(8)|urinary_tract(2)	11						c.(16-18)Gtc>Atc		homeobox B8							8	8	8					17																	46692051		2122	4152	6274	SO:0001583	missense	3218					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr17:46692051C>T		CCDS11533.1	17q21.32	2011-06-20	2005-12-22		ENSG00000120068	ENSG00000120068		"Homeoboxes / ANTP class : HOXL subclass"	5119	protein-coding gene	gene with protein product		142963	"homeo box B8"	HOX2, HOX2D		1973146, 1358459	Standard	XM_005257286		Approved		uc002inw.3	P17481	OTTHUMG00000159904	ENST00000239144.4:c.16G>A	17.37:g.46692051C>T	ENSP00000239144:p.Val6Ile					HOXB8_ENST00000576562.1_Missense_Mutation_p.V6I|HOXB7_ENST00000567101.1_Intron	p.V6I	NM_024016.3	NP_076921.1	P17481	HXB8_HUMAN			1	250	-			6					Q9H1I2	Missense_Mutation	SNP	ENST00000239144.4	37	c.16G>A	CCDS11533.1	.	.	.	.	.	.	.	.	.	.	c	18.28	3.589549	0.66105	.	.	ENSG00000120068	ENST00000239144	T	0.30714	1.52	3.35	3.35	0.38373	.	0.000000	0.51477	U	0.000098	T	0.55289	0.1911	M	0.86420	2.815	0.51482	D	0.999929	D	0.54772	0.968	P	0.59221	0.854	T	0.65857	-0.6066	10	0.54805	T	0.06	.	14.664	0.68893	0.0:1.0:0.0:0.0	.	6	P17481	HXB8_HUMAN	I	6	ENSP00000239144:V6I	ENSP00000239144:V6I	V	-	1	0	HOXB8	44047050	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	5.634000	0.67833	1.434000	0.47414	0.290000	0.19541	GTC		0.592	HOXB8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000358092.3			6	22	0	0	0	1	0	6	22					T	46692051	C	T	46692051	3	4	309	1	0	0	0	0	1	0	0	0	7307	536	19	1	723	1	HOXB8	17	46692051	Missense_Mutation	SNP	C	TCGA-KK-A5A1-01A-11D-A29Q-08	4359007	46692051	34503159	98	15913											
COL1A1	1277	broad.mit.edu	37	chr17	48263140	48263140	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggggattctgggcactcaccGtgcagccatcgacagtgacg	8	7	14	12	3	2	1	1	1	1	0	3	3	2	2	2	3	2	2	2	3	0	1	rs398122835		TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr17:48263140G>A	ENST00000225964.5	-	50	4365	c.4247C>T	c.(4246-4248)aCg>aTg	p.T1416M		NM_000088.3	NP_000079	P02452	CO1A1_HUMAN	collagen, type I, alpha 1	1416	Fibrillar collagen NC1. {ECO:0000255|PROSITE-ProRule:PRU00793}.				blood coagulation (GO:0007596)|blood vessel development (GO:0001568)|bone trabecula formation (GO:0060346)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|cellular response to amino acid stimulus (GO:0071230)|cellular response to mechanical stimulus (GO:0071260)|cellular response to retinoic acid (GO:0071300)|cellular response to transforming growth factor beta stimulus (GO:0071560)|collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|embryonic skeletal system development (GO:0048706)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|face morphogenesis (GO:0060325)|intramembranous ossification (GO:0001957)|leukocyte migration (GO:0050900)|negative regulation of cell-substrate adhesion (GO:0010812)|osteoblast differentiation (GO:0001649)|platelet activation (GO:0030168)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of transcription, DNA-templated (GO:0045893)|protein heterotrimerization (GO:0070208)|protein localization to nucleus (GO:0034504)|protein transport (GO:0015031)|response to cAMP (GO:0051591)|response to corticosteroid (GO:0031960)|response to estradiol (GO:0032355)|response to hydrogen peroxide (GO:0042542)|response to nutrient (GO:0007584)|response to peptide hormone (GO:0043434)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|skin morphogenesis (GO:0043589)|tooth mineralization (GO:0034505)|visual perception (GO:0007601)	collagen type I trimer (GO:0005584)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	extracellular matrix structural constituent (GO:0005201)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)		COL1A1/PDGFB(429)	NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	71					Collagenase(DB00048)	GGCACTCACCGTGCAGCCATC	0.627			T	"PDGFB, USP6"	"dermatofibrosarcoma protuberans, aneurysmal bone cyst "		Osteogenesis imperfecta																															ENST00000225964.5				Dom	yes		17	17q21.31-q22	1277	T	"collagen, type I, alpha 1"	yes	Osteogenesis imperfecta	M	"PDGFB, USP6"		"dermatofibrosarcoma protuberans, aneurysmal bone cyst "	COL1A1/PDGFB(429)	0				NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	71						c.e50+1		collagen, type I, alpha 1	Collagenase(DB00048)|Palifermin(DB00039)						45	44	44					17																	48263140		2203	4300	6503	SO:0001630	splice_region_variant	1277				axon guidance|blood vessel development|collagen biosynthetic process|collagen fibril organization|embryonic skeletal system development|leukocyte migration|platelet activation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|protein localization to nucleus|sensory perception of sound|skin morphogenesis|tooth mineralization|visual perception	collagen type I|extracellular space|plasma membrane	identical protein binding|platelet-derived growth factor binding	g.chr17:48263140G>A	Z74615	CCDS11561.1	17q21.33	2014-09-17			ENSG00000108821	ENSG00000108821		"Collagens"	2197	protein-coding gene	gene with protein product		120150				3178743, 2857713	Standard	NM_000088		Approved	OI4	uc002iqm.3	P02452	OTTHUMG00000148674	ENST00000225964.5:c.4248+1C>T	17.37:g.48263140G>A							p.T1416_splice	NM_000088.3	NP_000079.2	P02452	CO1A1_HUMAN			50	4365	-			1416			Fibrillar collagen NC1.		O76045|P78441|Q13896|Q13902|Q13903|Q14037|Q14992|Q15176|Q15201|Q16050|Q59F64|Q7KZ30|Q7KZ34|Q8IVI5|Q8N473|Q9UML6|Q9UMM7	Splice_Site	SNP	ENST00000225964.5	37	c.4248_splice	CCDS11561.1	.	.	.	.	.	.	.	.	.	.	G	14.29	2.490525	0.44249	.	.	ENSG00000108821	ENST00000225964	T	0.73897	-0.79	4.34	4.34	0.51931	Fibrillar collagen, C-terminal (4);	0.000000	0.85682	D	0.000000	D	0.83418	0.5250	M	0.82923	2.615	0.80722	D	1	D	0.69078	0.997	P	0.54590	0.756	D	0.87162	0.2215	10	0.87932	D	0	.	15.7598	0.78070	0.0:0.0:1.0:0.0	.	1416	P02452	CO1A1_HUMAN	M	1416	ENSP00000225964:T1416M	ENSP00000225964:T1416M	T	-	2	0	COL1A1	45618139	1.000000	0.71417	1.000000	0.80357	0.603000	0.37013	9.534000	0.98061	2.246000	0.74042	0.313000	0.20887	ACG		0.627	COL1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309036.2		Missense_Mutation	11	59	0	0	0	1	0	11	59					A	48263140	G	A	48263140	5	1	309	1	0	0	0	0	0	0	1	0	3677	1159	40	1	155	1	COL1A1	17	48263140	Splice_Site	SNP	G	TCGA-KK-A5A1-01A-11D-A29Q-08	1571089	48263140	32932070	99	15914											
COL1A1	1277	broad.mit.edu	37	chr17	48264042	48264042	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	acatcttgaggtcacggcagGtgcgggcggggttcttgcgg	5	9	18	9	4	3	1	1	1	2	0	3	1	3	1	0	7	2	2	0	7	0	3			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr17:48264042G>T	ENST00000225964.5	-	48	3891	c.3773C>A	c.(3772-3774)aCc>aAc	p.T1258N		NM_000088.3	NP_000079	P02452	CO1A1_HUMAN	collagen, type I, alpha 1	1258	Fibrillar collagen NC1. {ECO:0000255|PROSITE-ProRule:PRU00793}.				blood coagulation (GO:0007596)|blood vessel development (GO:0001568)|bone trabecula formation (GO:0060346)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|cellular response to amino acid stimulus (GO:0071230)|cellular response to mechanical stimulus (GO:0071260)|cellular response to retinoic acid (GO:0071300)|cellular response to transforming growth factor beta stimulus (GO:0071560)|collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|embryonic skeletal system development (GO:0048706)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|face morphogenesis (GO:0060325)|intramembranous ossification (GO:0001957)|leukocyte migration (GO:0050900)|negative regulation of cell-substrate adhesion (GO:0010812)|osteoblast differentiation (GO:0001649)|platelet activation (GO:0030168)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of transcription, DNA-templated (GO:0045893)|protein heterotrimerization (GO:0070208)|protein localization to nucleus (GO:0034504)|protein transport (GO:0015031)|response to cAMP (GO:0051591)|response to corticosteroid (GO:0031960)|response to estradiol (GO:0032355)|response to hydrogen peroxide (GO:0042542)|response to nutrient (GO:0007584)|response to peptide hormone (GO:0043434)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|skin morphogenesis (GO:0043589)|tooth mineralization (GO:0034505)|visual perception (GO:0007601)	collagen type I trimer (GO:0005584)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	extracellular matrix structural constituent (GO:0005201)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)		COL1A1/PDGFB(429)	NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	71					Collagenase(DB00048)	GTCACGGCAGGTGCGGGCGGG	0.647			T	"PDGFB, USP6"	"dermatofibrosarcoma protuberans, aneurysmal bone cyst "		Osteogenesis imperfecta																															ENST00000225964.5				Dom	yes		17	17q21.31-q22	1277	T	"collagen, type I, alpha 1"	yes	Osteogenesis imperfecta	M	"PDGFB, USP6"		"dermatofibrosarcoma protuberans, aneurysmal bone cyst "	COL1A1/PDGFB(429)	0				NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	71						c.(3772-3774)aCc>aAc		collagen, type I, alpha 1	Collagenase(DB00048)|Palifermin(DB00039)						74	85	81					17																	48264042		2203	4300	6503	SO:0001583	missense	1277				axon guidance|blood vessel development|collagen biosynthetic process|collagen fibril organization|embryonic skeletal system development|leukocyte migration|platelet activation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|protein localization to nucleus|sensory perception of sound|skin morphogenesis|tooth mineralization|visual perception	collagen type I|extracellular space|plasma membrane	identical protein binding|platelet-derived growth factor binding	g.chr17:48264042G>T	Z74615	CCDS11561.1	17q21.33	2014-09-17			ENSG00000108821	ENSG00000108821		"Collagens"	2197	protein-coding gene	gene with protein product		120150				3178743, 2857713	Standard	NM_000088		Approved	OI4	uc002iqm.3	P02452	OTTHUMG00000148674	ENST00000225964.5:c.3773C>A	17.37:g.48264042G>T	ENSP00000225964:p.Thr1258Asn						p.T1258N	NM_000088.3	NP_000079.2	P02452	CO1A1_HUMAN			48	3891	-			1258			Fibrillar collagen NC1.		O76045|P78441|Q13896|Q13902|Q13903|Q14037|Q14992|Q15176|Q15201|Q16050|Q59F64|Q7KZ30|Q7KZ34|Q8IVI5|Q8N473|Q9UML6|Q9UMM7	Missense_Mutation	SNP	ENST00000225964.5	37	c.3773C>A	CCDS11561.1	.	.	.	.	.	.	.	.	.	.	G	13.54	2.267701	0.40095	.	.	ENSG00000108821	ENST00000225964	T	0.76186	-1.0	3.93	3.93	0.45458	Fibrillar collagen, C-terminal (3);	0.000000	0.85682	U	0.000000	T	0.80560	0.4646	M	0.69523	2.12	0.49687	D	0.999812	D	0.59767	0.986	P	0.54629	0.757	T	0.81243	-0.1021	10	0.38643	T	0.18	.	14.8661	0.70416	0.0:0.0:1.0:0.0	.	1258	P02452	CO1A1_HUMAN	N	1258	ENSP00000225964:T1258N	ENSP00000225964:T1258N	T	-	2	0	COL1A1	45619041	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	6.185000	0.72013	2.005000	0.58758	0.313000	0.20887	ACC		0.647	COL1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309036.2			16	148	1	0	4.7546e-09	1	5.69767e-09	16	148					T	48264042	G	T	48264042	3	4	309	1	0	0	0	0	1	0	0	0	3677	1261	44	5	637	5	COL1A1	17	48264042	Missense_Mutation	SNP	G	TCGA-KK-A5A1-01A-11D-A29Q-08	902	48264042	32931168	100	15915											
USH1G	124590	broad.mit.edu	37	chr17	72915939	72915939	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catccagacccccatcctcgCggcccagtccgtgcagccca	7	5	8	21	3	0	1	0	0	0	1	4	1	3	1	7	1	2	1	7	1	0	0			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr17:72915939C>T	ENST00000319642.1	-	2	1174	c.992G>A	c.(991-993)cGc>cAc	p.R331H		NM_001282489.1|NM_173477.2	NP_001269418.1|NP_775748.2	Q495M9	USH1G_HUMAN	Usher syndrome 1G (autosomal recessive)	331					equilibrioception (GO:0050957)|inner ear morphogenesis (GO:0042472)|inner ear receptor cell differentiation (GO:0060113)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	spectrin binding (GO:0030507)		HN1/USH1G(2)	endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|prostate(1)|skin(3)	14	all_lung(278;0.172)|Lung NSC(278;0.207)					CCCATCCTCGCGGCCCAGTCC	0.677																																						ENST00000319642.1																		HN1/USH1G(2)	0				endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|prostate(1)|skin(3)	14						c.(991-993)cGc>cAc		Usher syndrome 1G (autosomal recessive)							48	59	55					17																	72915939		2203	4298	6501	SO:0001583	missense	124590				equilibrioception|photoreceptor cell maintenance|sensory perception of sound	actin cytoskeleton		g.chr17:72915939C>T	AK091243	CCDS32725.1	17q25.1	2013-01-10			ENSG00000182040	ENSG00000182040		"Sterile alpha motif (SAM) domain containing", "Ankyrin repeat domain containing"	16356	protein-coding gene	gene with protein product		607696				12588794	Standard	NM_001282489		Approved	Sans, FLJ33924, ANKS4A	uc002jme.1	Q495M9	OTTHUMG00000178864	ENST00000319642.1:c.992G>A	17.37:g.72915939C>T	ENSP00000320076:p.Arg331His						p.R331H	NM_173477.2	NP_775748.2	Q495M9	USH1G_HUMAN			2	1174	-	all_lung(278;0.172)|Lung NSC(278;0.207)		331					Q8N251	Missense_Mutation	SNP	ENST00000319642.1	37	c.992G>A	CCDS32725.1	.	.	.	.	.	.	.	.	.	.	C	12.95	2.090636	0.36855	.	.	ENSG00000182040	ENST00000319642	T	0.71222	-0.55	4.34	2.02	0.26589	.	0.680143	0.14137	N	0.338996	T	0.50171	0.1600	L	0.29908	0.895	0.09310	N	1	P	0.46706	0.883	B	0.32805	0.153	T	0.38045	-0.9679	10	0.52906	T	0.07	-12.7178	7.9146	0.29810	0.0:0.6913:0.0:0.3087	.	331	Q495M9	USH1G_HUMAN	H	331	ENSP00000320076:R331H	ENSP00000320076:R331H	R	-	2	0	USH1G	70427534	0.048000	0.20356	0.975000	0.42487	0.920000	0.55202	0.441000	0.21611	0.314000	0.23086	0.555000	0.69702	CGC		0.677	USH1G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443676.1	NM_173477		6	339	0	0	0	1	0	6	339					T	72915939	C	T	72915939	3	4	309	1	0	0	0	0	1	0	0	0	17032	768	27	1	401	1	USH1G	17	72915939	Missense_Mutation	SNP	C	TCGA-KK-A5A1-01A-11D-A29Q-08	24651897	72915939	8279271	101	15916											
CEP76	79959	broad.mit.edu	37	chr18	12673405	12673405	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acaagcaaacatgatccaaaCagcacatgcagattcagggt	17	6	8	10	0	1	2	1	1	0	1	2	2	2	2	1	1	5	3	1	1	3	1			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr18:12673405C>A	ENST00000262127.2	-	12	2164	c.1939G>T	c.(1939-1941)Gtt>Ttt	p.V647F	PSMG2_ENST00000589405.1_Intron|PSMG2_ENST00000585331.2_Intron|RP11-973H7.3_ENST00000585877.1_RNA|CEP76_ENST00000423709.2_Missense_Mutation_p.V572F	NM_024899.2	NP_079175.2	Q8TAP6	CEP76_HUMAN	centrosomal protein 76kDa	647					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of centriole replication (GO:0046599)	centriole (GO:0005814)|centrosome (GO:0005813)|cytosol (GO:0005829)|protein complex (GO:0043234)				endometrium(1)|kidney(3)|large_intestine(5)|lung(7)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						ATGATCCAAACAGCACATGCA	0.378																																						ENST00000262127.2																			0				endometrium(1)|kidney(3)|large_intestine(5)|lung(7)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(1939-1941)Gtt>Ttt		centrosomal protein 76kDa							125	127	127					18																	12673405		2203	4300	6503	SO:0001583	missense	79959				G2/M transition of mitotic cell cycle|regulation of centriole replication	centriole|cytosol	protein binding	g.chr18:12673405C>A	BC026307	CCDS11861.1, CCDS62390.1	18p11.21	2014-02-20	2005-12-01	2005-12-01	ENSG00000101624	ENSG00000101624			25727	protein-coding gene	gene with protein product			"chromosome 18 open reading frame 9"	C18orf9		14654843	Standard	NM_024899		Approved	HsT1705, FLJ12542	uc002kri.4	Q8TAP6	OTTHUMG00000131701	ENST00000262127.2:c.1939G>T	18.37:g.12673405C>A	ENSP00000262127:p.Val647Phe					CEP76_ENST00000423709.2_Missense_Mutation_p.V572F|RP11-973H7.2_ENST00000585331.1_RNA	p.V647F	NM_024899.2	NP_079175.2	Q8TAP6	CEP76_HUMAN			12	2164	-			647					B0YJB2|B4DXG5|B4DZW1|Q658N5|Q9H9U7	Missense_Mutation	SNP	ENST00000262127.2	37	c.1939G>T	CCDS11861.1	.	.	.	.	.	.	.	.	.	.	C	32	5.167858	0.94768	.	.	ENSG00000101624	ENST00000262127;ENST00000423709	D;D	0.85258	-1.96;-1.87	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	D	0.92766	0.7700	M	0.77103	2.36	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.76575	0.988;0.977	D	0.92893	0.6333	10	0.87932	D	0	-13.8387	20.0401	0.97581	0.0:1.0:0.0:0.0	.	572;647	Q8TAP6-2;Q8TAP6	.;CEP76_HUMAN	F	647;572	ENSP00000262127:V647F;ENSP00000403074:V572F	ENSP00000262127:V647F	V	-	1	0	CEP76	12663405	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.030000	0.70903	2.805000	0.96524	0.655000	0.94253	GTT		0.378	CEP76-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254611.1	NM_024899		20	95	1	0	1.87028e-06	1	2.13536e-06	20	95					A	12673405	C	A	12673405	3	1	309	1	0	0	0	0	1	0	0	0	3261	478	17	5	44	5	CEP76	18	12673405	Missense_Mutation	SNP	C	TCGA-KK-A5A1-01A-11D-A29Q-08		12673405	65403843	102	15917											
C18orf8	29919	broad.mit.edu	37	chr18	21110078	21110078	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttcctgcagtaccacgtcctCagcgactccaaacctttggt	8	11	7	15	2	1	0	1	0	0	0	4	1	4	0	5	1	4	2	5	1	2	3			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr18:21110078C>T	ENST00000269221.3	+	17	1691	c.1581C>T	c.(1579-1581)ctC>ctT	p.L527L	C18orf8_ENST00000590868.1_Silent_p.L479L|C18orf8_ENST00000591367.1_3'UTR	NM_013326.3	NP_037458.3	Q96DM3	MIC1_HUMAN	chromosome 18 open reading frame 8	527	Mic1.					lysosomal membrane (GO:0005765)				endometrium(9)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	21	all_cancers(21;0.000122)|all_epithelial(16;8.08e-07)|Lung NSC(20;0.00206)|all_lung(20;0.00659)|Colorectal(14;0.0202)|Ovarian(20;0.127)					ACCACGTCCTCAGCGACTCCA	0.403																																						ENST00000269221.3																			0				endometrium(9)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	21						c.(1579-1581)ctC>ctT		chromosome 18 open reading frame 8							229	235	233					18																	21110078		2203	4300	6503	SO:0001819	synonymous_variant	29919							g.chr18:21110078C>T	AK057192	CCDS32803.1, CCDS74199.1	18q11.2	2013-12-13			ENSG00000141452	ENSG00000141452			24326	protein-coding gene	gene with protein product	"colon cancer associated protein Mic1", "macrophage inhibitory cytokine 1"					12477932	Standard	NM_013326		Approved	MIC1, MIC-1, HsT2591	uc021uie.2	Q96DM3		ENST00000269221.3:c.1581C>T	18.37:g.21110078C>T						C18orf8_ENST00000590868.1_Silent_p.L479L|C18orf8_ENST00000591367.1_3'UTR	p.L527L	NM_013326.3	NP_037458.3	Q96DM3	MIC1_HUMAN			17	1691	+	all_cancers(21;0.000122)|all_epithelial(16;8.08e-07)|Lung NSC(20;0.00206)|all_lung(20;0.00659)|Colorectal(14;0.0202)|Ovarian(20;0.127)		527			Mic1.		Q9BU17|Q9Y5M0	Silent	SNP	ENST00000269221.3	37	c.1581C>T	CCDS32803.1																																																																																				0.403	C18orf8-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445386.1	NM_013326		37	242	0	0	0	1	0	37	242					T	21110078	C	T	21110078	2	4	309	1	0	0	0	0	0	0	0	1	1907	813	29	3		3	C18orf8	18	21110078	Silent	SNP	C	TCGA-KK-A5A1-01A-11D-A29Q-08	8436673	21110078	56967170	103	15918											
ALPK2	115701	broad.mit.edu	37	chr18	56202227	56202227	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtgctgccaccctggacaaaAttttcttctttactccctca	8	14	5	14	0	3	0	1	0	2	0	4	1	4	1	3	1	3	1	3	1	3	5			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr18:56202227A>T	ENST00000361673.3	-	5	5405	c.5192T>A	c.(5191-5193)aTt>aAt	p.I1731N	RP11-1151B14.4_ENST00000591360.1_RNA	NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	1731						nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						CCTGGACAAAATTTTCTTCTT	0.488																																						ENST00000361673.3																			0				NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						c.(5191-5193)aTt>aAt		alpha-kinase 2							118	112	114					18																	56202227		2203	4300	6503	SO:0001583	missense	115701						ATP binding|protein serine/threonine kinase activity	g.chr18:56202227A>T	AY044450	CCDS11966.2	18q21.31	2013-01-11			ENSG00000198796	ENSG00000198796		"Immunoglobulin superfamily / I-set domain containing"	20565	protein-coding gene	gene with protein product	"heart alpha-kinase"					10021370	Standard	NM_052947		Approved	HAK	uc002lhj.4	Q86TB3	OTTHUMG00000132755	ENST00000361673.3:c.5192T>A	18.37:g.56202227A>T	ENSP00000354991:p.Ile1731Asn						p.I1731N	NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN			5	5405	-			1731					Q6ZUX0|Q8NAT5|Q96L95	Missense_Mutation	SNP	ENST00000361673.3	37	c.5192T>A	CCDS11966.2	.	.	.	.	.	.	.	.	.	.	A	14.84	2.655828	0.47467	.	.	ENSG00000198796	ENST00000361673	T	0.59772	0.24	5.54	5.54	0.83059	.	0.323041	0.29707	N	0.011417	T	0.71702	0.3371	L	0.57536	1.79	0.37467	D	0.915465	D;D	0.76494	0.999;0.998	D;D	0.79108	0.992;0.982	T	0.77606	-0.2525	10	0.87932	D	0	-12.3107	13.1937	0.59726	1.0:0.0:0.0:0.0	.	1726;1731	Q86TB3-2;Q86TB3	.;ALPK2_HUMAN	N	1731	ENSP00000354991:I1731N	ENSP00000354991:I1731N	I	-	2	0	ALPK2	54353207	1.000000	0.71417	0.999000	0.59377	0.026000	0.11368	5.288000	0.65651	2.092000	0.63282	0.533000	0.62120	ATT		0.488	ALPK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256126.1	NM_052947		19	108	0	0	0	1	0	19	108					T	56202227	A	T	56202227	3	4	309	1	0	0	0	0	1	0	0	0	545	101	4	5	1356	5	ALPK2	18	56202227	Missense_Mutation	SNP	A	TCGA-KK-A5A1-01A-11D-A29Q-08	35092149	56202227	21875021	104	15919											
CCDC102B	79839	broad.mit.edu	37	chr18	66678240	66678240	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggcaaatattgcagaactgActcatgcaaacaaccgagtg	16	7	9	9	1	1	2	1	1	0	1	1	3	1	2	1	1	5	3	1	1	5	2			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr18:66678240A>G	ENST00000360242.5	+	7	1450	c.1333A>G	c.(1333-1335)Act>Gct	p.T445A	CCDC102B_ENST00000584156.1_Missense_Mutation_p.T445A|CCDC102B_ENST00000319445.6_Missense_Mutation_p.T445A	NM_024781.2	NP_079057	Q68D86	C102B_HUMAN	coiled-coil domain containing 102B	445										breast(2)|endometrium(3)|large_intestine(5)|lung(19)|ovary(1)|skin(5)|stomach(1)	36		Esophageal squamous(42;0.0559)|Colorectal(73;0.0604)				TGCAGAACTGACTCATGCAAA	0.343																																						ENST00000360242.5																			0				breast(2)|endometrium(3)|large_intestine(5)|lung(19)|ovary(1)|skin(5)|stomach(1)	36						c.(1333-1335)Act>Gct		coiled-coil domain containing 102B							102	96	98					18																	66678240		2203	4300	6503	SO:0001583	missense	79839							g.chr18:66678240A>G	AK027247	CCDS11996.2	18q22.1	2007-11-14	2006-04-10	2006-04-10	ENSG00000150636	ENSG00000150636			26295	protein-coding gene	gene with protein product			"chromosome 18 open reading frame 14", "aminoacylase 1-like"	C18orf14, ACY1L		14702039	Standard	NM_001093729		Approved	FLJ23594, HsT1731, AN	uc002lkk.2	Q68D86	OTTHUMG00000132808	ENST00000360242.5:c.1333A>G	18.37:g.66678240A>G	ENSP00000353377:p.Thr445Ala					CCDC102B_ENST00000584156.1_Missense_Mutation_p.T445A|CCDC102B_ENST00000319445.6_Missense_Mutation_p.T445A	p.T445A	NM_024781.2	NP_079057.2	Q68D86	C102B_HUMAN			7	1450	+		Esophageal squamous(42;0.0559)|Colorectal(73;0.0604)	445					Q7Z467|Q8NDK7|Q9H5C1	Missense_Mutation	SNP	ENST00000360242.5	37	c.1333A>G	CCDS11996.2	.	.	.	.	.	.	.	.	.	.	A	8.269	0.812959	0.16537	.	.	ENSG00000150636	ENST00000319445;ENST00000360242	T;T	0.10192	2.9;2.9	5.41	4.25	0.50352	.	0.743446	0.12090	N	0.500504	T	0.05410	0.0143	N	0.04787	-0.16	0.80722	D	1	B	0.27351	0.176	B	0.26094	0.066	T	0.40961	-0.9535	10	0.21540	T	0.41	-1.5958	8.0836	0.30758	0.9078:0.0:0.0922:0.0	.	445	Q68D86	C102B_HUMAN	A	445	ENSP00000316237:T445A;ENSP00000353377:T445A	ENSP00000316237:T445A	T	+	1	0	CCDC102B	64829220	0.988000	0.35896	0.027000	0.17364	0.598000	0.36846	2.568000	0.45965	0.894000	0.36317	0.533000	0.62120	ACT		0.343	CCDC102B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256225.2	NM_024781		9	42	0	0	0	1	0	9	42					G	66678240	A	G	66678240	3	3	309	1	0	0	0	0	1	0	0	0	2737	275	10	4	1355	4	CCDC102B	18	66678240	Missense_Mutation	SNP	A	TCGA-KK-A5A1-01A-11D-A29Q-08	10476013	66678240	11399008	105	15920											
CBLN2	147381	broad.mit.edu	37	chr18	70209171	70209171	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agggaggaggtgacggcgccGtccgccgacgggctggagtc	6	4	20	11	6	0	1	0	1	0	0	2	5	1	4	3	6	0	1	3	6	0	0			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr18:70209171G>A	ENST00000269503.4	-	3	998	c.225C>T	c.(223-225)gaC>gaT	p.D75D	CBLN2_ENST00000585159.1_Silent_p.D75D|CBLN2_ENST00000583651.1_Intron|CBLN2_ENST00000584764.1_Intron|CBLN2_ENST00000581073.1_Intron	NM_182511.3	NP_872317.1	Q8IUK8	CBLN2_HUMAN	cerebellin 2 precursor	75					positive regulation of synapse assembly (GO:0051965)	extracellular space (GO:0005615)				endometrium(2)|lung(15)	17		Esophageal squamous(42;0.131)				TGACGGCGCCGTCCGCCGACG	0.706																																						ENST00000269503.4																			0				endometrium(2)|lung(15)	17						c.(223-225)gaC>gaT		cerebellin 2 precursor							29	27	27					18																	70209171		2200	4299	6499	SO:0001819	synonymous_variant	147381					integral to membrane		g.chr18:70209171G>A	BC035789	CCDS11999.1	18q22.3	2007-11-19			ENSG00000141668	ENSG00000141668			1544	protein-coding gene	gene with protein product		600433				7877445	Standard	NM_182511		Approved		uc002lkv.2	Q8IUK8	OTTHUMG00000132825	ENST00000269503.4:c.225C>T	18.37:g.70209171G>A						CBLN2_ENST00000583651.1_Intron|CBLN2_ENST00000581073.1_Intron|CBLN2_ENST00000585159.1_Silent_p.D75D|CBLN2_ENST00000584764.1_Intron	p.D75D	NM_182511.3	NP_872317.1	Q8IUK8	CBLN2_HUMAN			3	998	-		Esophageal squamous(42;0.131)	75					Q53Z56	Silent	SNP	ENST00000269503.4	37	c.225C>T	CCDS11999.1																																																																																				0.706	CBLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256288.1	NM_182511		14	13	0	0	0	1	0	14	13					A	70209171	G	A	70209171	2	1	309	1	0	0	0	0	0	0	0	1	2705	1136	40	1		1	CBLN2	18	70209171	Silent	SNP	G	TCGA-KK-A5A1-01A-11D-A29Q-08	3530931	70209171	7868077	106	15921											
PTBP1	5725	broad.mit.edu	37	chr19	803627	803627	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ttatcatgagcagcaactcgGcttctgcaggtaaggccggg	9	9	13	10	2	2	1	1	1	1	0	3	1	2	1	1	4	4	5	1	4	3	3			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr19:803627G>A	ENST00000349038.4	+	3	179	c.106G>A	c.(106-108)Gct>Act	p.A36T	PTBP1_ENST00000394601.4_Missense_Mutation_p.A36T|MIR4745_ENST00000577608.1_RNA|PTBP1_ENST00000350092.4_Intron|PTBP1_ENST00000356948.6_Missense_Mutation_p.A36T	NM_031991.3	NP_114368.1	P26599	PTBP1_HUMAN	polypyrimidine tract binding protein 1	36					alternative mRNA splicing, via spliceosome (GO:0000380)|gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|negative regulation of muscle cell differentiation (GO:0051148)|negative regulation of RNA splicing (GO:0033119)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing (GO:0008380)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|poly-pyrimidine tract binding (GO:0008187)|pre-mRNA binding (GO:0036002)|RNA binding (GO:0003723)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(4)	19		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;0.000172)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CAGCAACTCGGCTTCTGCAGG	0.547																																						ENST00000356948.6																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(4)	19						c.(106-108)Gct>Act		polypyrimidine tract binding protein 1							100	97	98					19																	803627		2203	4300	6503	SO:0001583	missense	5725				negative regulation of muscle cell differentiation|nuclear mRNA splicing, via spliceosome|regulation of alternative nuclear mRNA splicing, via spliceosome	heterogeneous nuclear ribonucleoprotein complex|nucleolus|nucleoplasm	mRNA binding|nucleotide binding|poly-pyrimidine tract binding|protein binding	g.chr19:803627G>A	X60648	CCDS32859.1, CCDS42456.1, CCDS45892.1	19p13.3	2013-07-16	2002-01-25	2002-01-25	ENSG00000011304	ENSG00000011304		"RNA binding motif (RRM) containing"	9583	protein-coding gene	gene with protein product	"heterogeneous nuclear ribonucleoprotein I"	600693	"polypyrimidine tract binding protein (heterogeneous nuclear ribonucleoprotein I)"	PTB		1906036, 11024286	Standard	NM_002819		Approved	HNRPI, HNRNP-I, PTB2, PTB3, PTB-1, PTB4, pPTB	uc002lpp.2	P26599		ENST00000349038.4:c.106G>A	19.37:g.803627G>A	ENSP00000014112:p.Ala36Thr					PTBP1_ENST00000349038.4_Missense_Mutation_p.A36T|PTBP1_ENST00000394601.4_Missense_Mutation_p.A36T|PTBP1_ENST00000350092.4_Intron	p.A36T	NM_002819.4	NP_002810.1	P26599	PTBP1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	3	529	+		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;0.000172)|Hepatocellular(1079;0.137)|Renal(1328;0.228)	36					Q9BUQ0	Missense_Mutation	SNP	ENST00000349038.4	37	c.106G>A	CCDS32859.1	.	.	.	.	.	.	.	.	.	.	G	0.294	-0.978309	0.02197	.	.	ENSG00000011304	ENST00000356948;ENST00000394601;ENST00000349038	T;T;T	0.43688	0.94;0.94;1.26	4.45	1.04	0.20106	.	1.148650	0.06688	N	0.769162	T	0.23611	0.0571	N	0.13098	0.295	0.09310	N	0.999995	B;B;B	0.22604	0.072;0.015;0.009	B;B;B	0.25405	0.05;0.06;0.027	T	0.28267	-1.0049	10	0.13470	T	0.59	-14.6678	5.0699	0.14602	0.1518:0.1171:0.6115:0.1197	.	36;36;36	P26599;P26599-2;Q9BUQ0	PTBP1_HUMAN;.;.	T	36	ENSP00000349428:A36T;ENSP00000408096:A36T;ENSP00000014112:A36T	ENSP00000014112:A36T	A	+	1	0	PTBP1	754627	.	.	0.000000	0.03702	0.001000	0.01503	.	.	-0.117000	0.11872	-1.151000	0.01829	GCT		0.547	PTBP1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457605.1			4	125	0	0	0	1	0	4	125					A	803627	G	A	803627	3	1	309	1	0	0	0	0	1	0	0	0	12725	1203	42	3	116	3	PTBP1	19	803627	Missense_Mutation	SNP	G	TCGA-KK-A5A1-01A-11D-A29Q-08		803627	58325356	107	15922											
PTPRS	5802	broad.mit.edu	37	chr19	5214707	5214707	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgttctgacaccggtagccGtccacgtagttggcattgat	7	11	12	11	4	1	2	0	2	1	0	2	2	2	2	3	2	1	5	3	2	2	5	rs144200009	byFrequency	TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr19:5214707G>A	ENST00000587303.1	-	28	4458	c.4359C>T	c.(4357-4359)gaC>gaT	p.D1453D	PTPRS_ENST00000588012.1_Silent_p.D1415D|PTPRS_ENST00000262963.6_Silent_p.D1433D|PTPRS_ENST00000592099.1_Silent_p.D1006D|PTPRS_ENST00000372412.4_Silent_p.D1454D|PTPRS_ENST00000348075.2_Silent_p.D1415D|PTPRS_ENST00000353284.2_Silent_p.D1006D|PTPRS_ENST00000357368.4_Silent_p.D1453D|PTPRS_ENST00000588552.1_5'UTR			Q13332	PTPRS_HUMAN	protein tyrosine phosphatase, receptor type, S	1453	Tyrosine-protein phosphatase 1. {ECO:0000255|PROSITE-ProRule:PRU00160}.				cell adhesion (GO:0007155)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|corpus callosum development (GO:0022038)|extracellular matrix organization (GO:0030198)|hippocampus development (GO:0021766)|peptidyl-tyrosine dephosphorylation (GO:0035335)|spinal cord development (GO:0021510)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)	61				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)	Alendronate(DB00630)|Etidronic acid(DB01077)	ACCGGTAGCCGTCCACGTAGT	0.612													G|||	4	0.000798722	0.0015	0.0014	5008	,	,		20792	0.001		0	False		,,,				2504	0					ENST00000372412.4																			0				NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)	61						c.(4360-4362)gaC>gaT		protein tyrosine phosphatase, receptor type, S		G	,,,	7,4397	12.9+/-30.5	0,7,2195	54	41	45		4359,3018,4245,3030	-3	1	19	dbSNP_134	45	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	PTPRS	NM_002850.3,NM_130853.2,NM_130854.2,NM_130855.2	,,,	0,8,6494	AA,AG,GG		0.0116,0.1589,0.0615	,,,	1453/1949,1006/1502,1415/1911,1010/1506	5214707	8,12996	2202	4300	6502	SO:0001819	synonymous_variant	5802				cell adhesion	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr19:5214707G>A	U35234	CCDS12139.1, CCDS12140.1, CCDS45930.1, CCDS74265.1	19p13.3	2013-02-11				ENSG00000105426		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	9681	protein-coding gene	gene with protein product		601576				8954782, 8524829	Standard	NM_002850		Approved		uc002mbv.3	Q13332		ENST00000587303.1:c.4359C>T	19.37:g.5214707G>A						PTPRS_ENST00000357368.4_Silent_p.D1453D|PTPRS_ENST00000262963.6_Silent_p.D1433D|PTPRS_ENST00000353284.2_Silent_p.D1006D|PTPRS_ENST00000348075.2_Silent_p.D1415D|PTPRS_ENST00000588012.1_Silent_p.D1415D|PTPRS_ENST00000588552.1_5'UTR|PTPRS_ENST00000587303.1_Silent_p.D1453D|PTPRS_ENST00000592099.1_Silent_p.D1006D	p.D1454D			Q13332	PTPRS_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)	29	4595	-			1453			Tyrosine-protein phosphatase 1.		O75255|O75870|Q15718|Q16341|Q2M3R7	Silent	SNP	ENST00000587303.1	37	c.4362C>T	CCDS45930.1																																																																																				0.612	PTPRS-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000450762.2			3	34	0	0	0	1	0	3	34					A	5214707	G	A	5214707	2	1	309	1	0	0	0	0	0	0	0	1	12811	1136	40	1		1	PTPRS	19	5214707	Silent	SNP	G	TCGA-KK-A5A1-01A-11D-A29Q-08	4411080	5214707	53914276	108	15923											
IL27RA	9466	broad.mit.edu	37	chr19	14150414	14150414	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatgtctgacaaactccttGtctggggcactaaggcaggc	9	9	11	12	0	2	1	0	1	2	0	3	1	3	1	2	4	1	2	2	4	2	2			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr19:14150414G>C	ENST00000263379.2	+	3	438	c.313G>C	c.(313-315)Gtc>Ctc	p.V105L		NM_004843.3	NP_004834.1	Q6UWB1	I27RA_HUMAN	interleukin 27 receptor, alpha	105					cell surface receptor signaling pathway (GO:0007166)|defense response to Gram-positive bacterium (GO:0050830)|immune response (GO:0006955)|negative regulation of type 2 immune response (GO:0002829)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of T-helper 1 type immune response (GO:0002827)|regulation of isotype switching to IgG isotypes (GO:0048302)	integral component of plasma membrane (GO:0005887)	interleukin-27 receptor activity (GO:0045509)|transmembrane signaling receptor activity (GO:0004888)			breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	26						CAAACTCCTTGTCTGGGGCAC	0.607																																					Colon(164;1849 1896 4443 37792 47834)	ENST00000263379.2																			0				breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	26						c.(313-315)Gtc>Ctc		interleukin 27 receptor, alpha							70	64	66					19																	14150414		2203	4300	6503	SO:0001583	missense	9466				cell surface receptor linked signaling pathway|immune response	integral to plasma membrane	transmembrane receptor activity	g.chr19:14150414G>C	AF053004	CCDS12303.1	19p13.11	2013-02-11				ENSG00000104998		"Interleukins and interleukin receptors", "Fibronectin type III domain containing"	17290	protein-coding gene	gene with protein product	"T-cell cytokine receptor type 1"	605350				9600072, 11057672	Standard	NM_004843		Approved	WSX-1, TCCR, CRL1, WSX1, zcytor1, IL-27R	uc002mxx.4	Q6UWB1		ENST00000263379.2:c.313G>C	19.37:g.14150414G>C	ENSP00000263379:p.Val105Leu						p.V105L	NM_004843.3	NP_004834.1	Q6UWB1	I27RA_HUMAN			3	438	+			105					A0N0L1|O60624	Missense_Mutation	SNP	ENST00000263379.2	37	c.313G>C	CCDS12303.1	.	.	.	.	.	.	.	.	.	.	G	13.05	2.122095	0.37436	.	.	ENSG00000104998	ENST00000263379	T	0.61627	0.09	4.54	3.49	0.39957	.	0.186040	0.26373	N	0.024748	T	0.38214	0.1032	L	0.32530	0.975	0.23903	N	0.996516	P	0.43857	0.819	B	0.35813	0.211	T	0.17776	-1.0358	10	0.26408	T	0.33	-7.062	7.834	0.29360	0.115:0.0:0.885:0.0	.	105	Q6UWB1	I27RA_HUMAN	L	105	ENSP00000263379:V105L	ENSP00000263379:V105L	V	+	1	0	IL27RA	14011414	0.801000	0.28930	0.900000	0.35374	0.365000	0.29674	0.973000	0.29422	1.251000	0.43983	0.555000	0.69702	GTC		0.607	IL27RA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458539.1	NM_004843		29	91	0	0	0	1	0	29	91					C	14150414	G	C	14150414	3	2	309	1	0	0	0	0	1	0	0	0	7681	1377	48	5	323	5	IL27RA	19	14150414	Missense_Mutation	SNP	G	TCGA-KK-A5A1-01A-11D-A29Q-08	8935707	14150414	44978569	109	15924											
MAP1S	55201	broad.mit.edu	37	chr19	17835965	17835965	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagacagggggcttctcgccTcaccacttcctccaggtcct	6	9	9	17	1	2	1	1	0	1	1	6	1	5	1	5	3	0	1	5	3	0	2			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr19:17835965T>G	ENST00000324096.4	+	4	562	c.411T>G	c.(409-411)ccT>ccG	p.P137P	MAP1S_ENST00000597681.1_Intron|CTD-3149D2.4_ENST00000595363.1_RNA|MAP1S_ENST00000544059.2_Silent_p.P111P	NM_018174.4	NP_060644.4	Q66K74	MAP1S_HUMAN	microtubule-associated protein 1S	137	Necessary for the microtubule-organizing center localization.				apoptotic DNA fragmentation (GO:0006309)|brain development (GO:0007420)|execution phase of apoptosis (GO:0097194)|microtubule bundle formation (GO:0001578)|mitochondrion transport along microtubule (GO:0047497)|nervous system development (GO:0007399)|neuron projection morphogenesis (GO:0048812)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|microtubule (GO:0005874)|neuronal cell body (GO:0043025)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|synapse (GO:0045202)	actin filament binding (GO:0051015)|beta-tubulin binding (GO:0048487)|DNA binding (GO:0003677)|microtubule binding (GO:0008017)|tubulin binding (GO:0015631)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	25						GCTTCTCGCCTCACCACTTCC	0.607																																						ENST00000324096.4																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	25						c.(409-411)ccT>ccG		microtubule-associated protein 1S							84	76	79					19																	17835965		2203	4300	6503	SO:0001819	synonymous_variant	55201				apoptosis|brain development|microtubule bundle formation|mitochondrion transport along microtubule|neuron projection morphogenesis	cytosol|dendrite|microtubule|neuronal cell body|nucleus|perinuclear region of cytoplasm|spindle|synapse	actin filament binding|beta-tubulin binding|DNA binding|microtubule binding	g.chr19:17835965T>G	BC067115	CCDS32954.1	19p13.12	2008-02-05	2006-07-04	2006-07-04		ENSG00000130479			15715	protein-coding gene	gene with protein product		607573	"chromosome 19 open reading frame 5", "VCY2 interacting protein 1", "BPY2 interacting protein 1"	C19orf5, VCY2IP1, BPY2IP1		11827465, 15528209, 16297881, 14627543	Standard	NM_018174		Approved	FLJ10669, MAP8	uc002nhe.1	Q66K74		ENST00000324096.4:c.411T>G	19.37:g.17835965T>G						MAP1S_ENST00000597681.1_Intron|MAP1S_ENST00000544059.2_Silent_p.P111P	p.P137P	NM_018174.4	NP_060644.4	Q66K74	MAP1S_HUMAN			4	562	+			137			Necessary for the microtubule-organizing center localization.		B4DH53|Q27QB1|Q6NXF1|Q8N3L8|Q8N3W5|Q8NI88|Q96H94|Q96IT4|Q96SP8|Q9BRC6|Q9H928|Q9NVK7	Silent	SNP	ENST00000324096.4	37	c.411T>G	CCDS32954.1																																																																																				0.607	MAP1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466027.1	NM_018174		5	121	0	0	0	1	0	5	121					G	17835965	T	G	17835965	2	3	309	1	0	0	0	0	0	0	0	1	9234	1538	54	5		5	MAP1S	19	17835965	Silent	SNP	T	TCGA-KK-A5A1-01A-11D-A29Q-08	3685551	17835965	41293018	110	15925											
CRLF1	9244	broad.mit.edu	37	chr19	18709695	18709695	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaccagcagctgatgttgacGggtttctctgggggcactgg	6	10	16	9	1	1	2	0	2	1	0	2	3	1	2	1	4	2	5	1	4	0	2	rs199728865	byFrequency	TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr19:18709695G>A	ENST00000392386.3	-	3	607	c.414C>T	c.(412-414)ccC>ccT	p.P138P		NM_004750.4	NP_004741.1	O75462	CRLF1_HUMAN	cytokine receptor-like factor 1	138	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.		P -> L (in CISS1). {ECO:0000269|PubMed:23026229}.		negative regulation of motor neuron apoptotic process (GO:2000672)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of cell proliferation (GO:0008284)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|ureteric bud development (GO:0001657)	CRLF-CLCF1 complex (GO:0097058)|extracellular space (GO:0005615)	cytokine binding (GO:0019955)|protein heterodimerization activity (GO:0046982)|receptor activity (GO:0004872)			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)	9						TGATGTTGACGGGTTTCTCTG	0.632													G|||	2	0.000399361	0	0	5008	,	,		15482	0.001		0	False		,,,				2504	0.001					ENST00000392386.3																			0				central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)	9						c.(412-414)ccC>ccT		cytokine receptor-like factor 1							85	86	85					19																	18709695		2203	4300	6503	SO:0001819	synonymous_variant	9244				negative regulation of neuron apoptosis|positive regulation of cell proliferation|positive regulation of tyrosine phosphorylation of Stat3 protein	extracellular space	cytokine binding|protein heterodimerization activity|receptor activity	g.chr19:18709695G>A	AF059293	CCDS32962.1	19p12	2013-02-11				ENSG00000006016		"Fibronectin type III domain containing"	2364	protein-coding gene	gene with protein product	"cold-induced sweating syndrome"	604237				9686600	Standard	NM_004750		Approved	CLF-1, CLF, CISS, CISS1	uc010ebt.2	O75462		ENST00000392386.3:c.414C>T	19.37:g.18709695G>A							p.P138P	NM_004750.4	NP_004741.1	O75462	CRLF1_HUMAN			3	607	-			138			Fibronectin type-III 1.		Q9UHH5	Silent	SNP	ENST00000392386.3	37	c.414C>T	CCDS32962.1																																																																																				0.632	CRLF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465129.1			15	78	0	0	0	1	0	15	78					A	18709695	G	A	18709695	2	1	309	1	0	0	0	0	0	0	0	1	3886	1103	39	2		2	CRLF1	19	18709695	Silent	SNP	G	TCGA-KK-A5A1-01A-11D-A29Q-08	873730	18709695	40419288	111	15926											
ZNF781	163115	broad.mit.edu	37	chr19	38160483	38160483	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agtatgagttctctggtgttGagtaagtgttgagcaattat	10	16	12	3	0	1	3	0	3	1	0	2	3	1	3	0	1	1	6	0	1	4	6			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr19:38160483G>A	ENST00000590008.1	-	5	1419	c.567C>T	c.(565-567)ctC>ctT	p.L189L	ZNF781_ENST00000593040.1_5'Flank|ZFP30_ENST00000586732.1_Intron|ZNF781_ENST00000358582.4_Silent_p.L189L			Q8N8C0	ZN781_HUMAN	zinc finger protein 781	189					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(2)|large_intestine(5)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	24						CTCTGGTGTTGAGTAAGTGTT	0.368																																						ENST00000358582.4																			0				NS(1)|breast(2)|large_intestine(5)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	24						c.(565-567)ctC>ctT		zinc finger protein 781							79	77	78					19																	38160483		2203	4300	6503	SO:0001819	synonymous_variant	163115				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:38160483G>A	AK097019	CCDS12507.1	19q13.12	2013-01-08				ENSG00000196381		"Zinc fingers, C2H2-type"	26745	protein-coding gene	gene with protein product							Standard	NM_152605		Approved	FLJ37549	uc002ogy.2	Q8N8C0		ENST00000590008.1:c.567C>T	19.37:g.38160483G>A						ZNF781_ENST00000590008.1_Silent_p.L189L|ZFP30_ENST00000586732.1_Intron	p.L189L	NM_152605.3	NP_689818.2	Q8N8C0	ZN781_HUMAN			4	1315	-			189					Q2VPJ8	Silent	SNP	ENST00000590008.1	37	c.567C>T	CCDS12507.1																																																																																				0.368	ZNF781-002	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000459495.2	NM_152605		12	68	0	0	0	1	0	12	68					A	38160483	G	A	38160483	2	1	309	1	0	0	0	0	0	0	0	1	18151	1277	45	3		3	ZNF781	19	38160483	Silent	SNP	G	TCGA-KK-A5A1-01A-11D-A29Q-08	19450788	38160483	20968500	112	15927											
ZNF225	7768	broad.mit.edu	37	chr19	44636284	44636284	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttatacccatcgtagagtccAcagtggagaaaaaccattca	15	9	7	10	1	1	2	1	0	0	2	3	3	2	2	3	1	2	1	3	1	5	4			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr19:44636284A>G	ENST00000262894.6	+	5	1797	c.1517A>G	c.(1516-1518)cAc>cGc	p.H506R	ZNF225_ENST00000592780.1_3'UTR|ZNF225_ENST00000590612.1_Missense_Mutation_p.H506R	NM_013362.2	NP_037494.2	Q9UK10	ZN225_HUMAN	zinc finger protein 225	506					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|skin(1)|stomach(1)	16		Prostate(69;0.0352)|all_neural(266;0.202)				CGTAGAGTCCACAGTGGAGAA	0.378																																						ENST00000262894.6																			0				NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|skin(1)|stomach(1)	16						c.(1516-1518)cAc>cGc		zinc finger protein 225							72	80	77					19																	44636284		2188	4291	6479	SO:0001583	missense	7768				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44636284A>G	AF187991	CCDS46100.1	19q13.31	2013-01-08				ENSG00000256294		"Zinc fingers, C2H2-type", "-"	13018	protein-coding gene	gene with protein product							Standard	NM_013362		Approved		uc002oyj.1	Q9UK10		ENST00000262894.6:c.1517A>G	19.37:g.44636284A>G	ENSP00000262894:p.His506Arg					ZNF225_ENST00000592780.1_3'UTR|ZNF225_ENST00000590612.1_Missense_Mutation_p.H506R	p.H506R	NM_013362.2	NP_037494.2	Q9UK10	ZN225_HUMAN			5	1797	+		Prostate(69;0.0352)|all_neural(266;0.202)	506					A8K8S2|Q53F12|Q9NS46|Q9UID8	Missense_Mutation	SNP	ENST00000262894.6	37	c.1517A>G	CCDS46100.1	.	.	.	.	.	.	.	.	.	.	A	19.91	3.914476	0.72983	.	.	ENSG00000256294	ENST00000262894;ENST00000544184	T	0.67523	-0.27	2.65	1.58	0.23477	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.83820	0.5337	H	0.94658	3.565	0.26769	N	0.969838	D	0.71674	0.998	D	0.83275	0.996	T	0.72077	-0.4399	9	0.72032	D	0.01	.	7.055	0.25093	0.797:0.0:0.0:0.203	.	506	Q9UK10	ZN225_HUMAN	R	506;470	ENSP00000262894:H506R	ENSP00000262894:H506R	H	+	2	0	ZNF225	49328124	0.568000	0.26635	0.026000	0.17262	0.961000	0.63080	3.264000	0.51553	0.220000	0.20860	-0.496000	0.04628	CAC		0.378	ZNF225-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460581.1			13	98	0	0	0	1	0	13	98					G	44636284	A	G	44636284	3	3	309	1	0	0	0	0	1	0	0	0	17776	159	6	4	1531	4	ZNF225	19	44636284	Missense_Mutation	SNP	A	TCGA-KK-A5A1-01A-11D-A29Q-08	6475801	44636284	14492699	113	15928											
CACNG7	59284	broad.mit.edu	37	chr19	54417821	54417821	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gagatcaatttggtgacggaAaacacggagaatattctgag	15	9	12	5	2	2	4	1	2	1	2	2	7	2	5	0	3	1	0	0	3	5	3			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr19:54417821A>C	ENST00000391767.1	+	3	476	c.264A>C	c.(262-264)gaA>gaC	p.E88D	CACNG7_ENST00000468076.1_Intron|CACNG7_ENST00000222212.2_Missense_Mutation_p.E88D|CACNG7_ENST00000391766.1_Missense_Mutation_p.E88D			P62955	CCG7_HUMAN	calcium channel, voltage-dependent, gamma subunit 7	88					calcium ion transport (GO:0006816)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)			NS(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0711)		TGGTGACGGAAAACACGGAGA	0.547																																						ENST00000391767.1																			0				NS(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23						c.(262-264)gaA>gaC		calcium channel, voltage-dependent, gamma subunit 7							73	65	68					19																	54417821		2203	4300	6503	SO:0001583	missense	59284				regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr19:54417821A>C	AF288387	CCDS12868.1	19q13.4	2008-05-02			ENSG00000105605	ENSG00000105605		"Calcium channel subunits"	13626	protein-coding gene	gene with protein product		606899				11170751	Standard	NM_031896		Approved		uc002qcr.2	P62955	OTTHUMG00000064852	ENST00000391767.1:c.264A>C	19.37:g.54417821A>C	ENSP00000375647:p.Glu88Asp					CACNG7_ENST00000468076.1_Intron|CACNG7_ENST00000222212.2_Missense_Mutation_p.E88D|CACNG7_ENST00000391766.1_Missense_Mutation_p.E88D	p.E88D			P62955	CCG7_HUMAN		GBM - Glioblastoma multiforme(134;0.0711)	3	476	+	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)		88					Q52LL8|Q8VBX3|Q8WXS6|Q9BXT1	Missense_Mutation	SNP	ENST00000391767.1	37	c.264A>C	CCDS12868.1	.	.	.	.	.	.	.	.	.	.	A	2.167	-0.390698	0.04932	.	.	ENSG00000105605	ENST00000391767;ENST00000222212;ENST00000391766	T;T;T	0.74947	0.08;0.08;-0.89	2.84	1.83	0.25207	.	0.000000	0.85682	D	0.000000	T	0.52869	0.1761	N	0.12663	0.25	0.48087	D	0.999588	B	0.33883	0.43	B	0.42386	0.386	T	0.50432	-0.8829	10	0.02654	T	1	-5.8962	6.064	0.19854	0.8664:0.0:0.1336:0.0	.	88	P62955	CCG7_HUMAN	D	88	ENSP00000375647:E88D;ENSP00000222212:E88D;ENSP00000375646:E88D	ENSP00000222212:E88D	E	+	3	2	CACNG7	59109633	0.994000	0.37717	1.000000	0.80357	0.997000	0.91878	0.368000	0.20399	0.522000	0.28464	0.459000	0.35465	GAA		0.547	CACNG7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139240.2			9	59	0	0	0	1	0	9	59					C	54417821	A	C	54417821	3	2	309	1	0	0	0	0	1	0	0	0	2562	11	1	5	270	5	CACNG7	19	54417821	Missense_Mutation	SNP	A	TCGA-KK-A5A1-01A-11D-A29Q-08	9781537	54417821	4711162	114	15929											
ZNF587	84914	broad.mit.edu	37	chr19	58370783	58370783	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aatgtgggaaatcttttggtCaaaagggtaacctcattcaa	14	12	9	6	0	4	0	3	0	1	0	4	1	4	1	1	3	1	1	1	3	6	4			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr19:58370783C>T	ENST00000339656.5	+	3	1185	c.1003C>T	c.(1003-1005)Caa>Taa	p.Q335*	ZNF814_ENST00000597652.1_5'Flank|ZNF587_ENST00000419854.1_Nonsense_Mutation_p.Q292*|ZNF814_ENST00000597342.1_Intron|ZNF814_ENST00000596604.1_Intron|ZNF587_ENST00000423137.1_Nonsense_Mutation_p.Q334*|ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000597832.1_Intron	NM_001204817.1|NM_032828.3	NP_001191746.1|NP_116217.1	Q96SQ5	ZN587_HUMAN	zinc finger protein 587	335					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|pancreas(1)|stomach(1)	15		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0264)		ATCTTTTGGTCAAAAGGGTAA	0.443																																					Pancreas(59;641 1233 1885 20055 50741)	ENST00000339656.5																			0				central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|pancreas(1)|stomach(1)	15						c.(1003-1005)Caa>Taa		zinc finger protein 587							115	150	138					19																	58370783		2198	4300	6498	SO:0001587	stop_gained	84914				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58370783C>T	AF294842	CCDS12964.1, CCDS56110.1	19q13.43	2013-01-08				ENSG00000198466		"Zinc fingers, C2H2-type", "-"	30955	protein-coding gene	gene with protein product						10520746	Standard	NM_032828		Approved	ZF6, FLJ14710, UBF-fl, FLJ20813	uc002qql.3	Q96SQ5	OTTHUMG00000154901	ENST00000339656.5:c.1003C>T	19.37:g.58370783C>T	ENSP00000345479:p.Gln335*					ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000597832.1_Intron|ZNF587_ENST00000423137.1_Nonsense_Mutation_p.Q334*|ZNF587_ENST00000419854.1_Nonsense_Mutation_p.Q292*|ZNF814_ENST00000597342.1_Intron	p.Q335*	NM_001204817.1|NM_032828.3	NP_001191746.1|NP_116217.1	Q96SQ5	ZN587_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0264)	3	1185	+		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)	335					A0AV72|G3V0H5|Q6ZMK8	Nonsense_Mutation	SNP	ENST00000339656.5	37	c.1003C>T	CCDS12964.1	.	.	.	.	.	.	.	.	.	.	.	16.78	3.217349	0.58560	.	.	ENSG00000198466	ENST00000376209;ENST00000423137;ENST00000339656;ENST00000540851;ENST00000419854	.	.	.	1.76	1.76	0.24704	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1.000000	.	.	.	.	.	.	.	.	.	.	0.36615	T	0.2	.	6.1074	0.20081	0.0:0.8194:0.0:0.1806	.	.	.	.	X	292;334;335;335;292	.	ENSP00000345479:Q335X	Q	+	1	0	ZNF587	63062595	0.000000	0.05858	0.003000	0.11579	0.045000	0.14185	-4.154000	0.00284	0.940000	0.37473	0.195000	0.17529	CAA		0.443	ZNF587-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337594.2	NM_032828		32	75	0	0	0	1	0	32	75					T	58370783	C	T	58370783	4	4	309	1	0	0	0	0	0	1	0	0	18017	827	29	3	1013	3	ZNF587	19	58370783	Nonsense_Mutation	SNP	C	TCGA-KK-A5A1-01A-11D-A29Q-08	3952962	58370783	758200	115	15930											
CPXM1	56265	broad.mit.edu	37	chr20	2775056	2775056	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtcccctggggtcagcagaCgccaataatccccgccccac	9	5	9	18	2	1	1	1	0	0	1	3	1	3	1	7	2	1	1	7	2	2	1	rs372944936		TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr20:2775056C>T	ENST00000380605.2	-	14	2049	c.1985G>A	c.(1984-1986)cGt>cAt	p.R662H		NM_001184699.1|NM_019609.4	NP_001171628.1|NP_062555.1	Q96SM3	CPXM1_HUMAN	carboxypeptidase X (M14 family), member 1	662					cell adhesion (GO:0007155)	extracellular space (GO:0005615)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			endometrium(5)|kidney(5)|large_intestine(8)|lung(17)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	43						GGTCAGCAGACGCCAATAATC	0.602																																						ENST00000380605.2																			0				endometrium(5)|kidney(5)|large_intestine(8)|lung(17)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	43						c.(1984-1986)cGt>cAt		carboxypeptidase X (M14 family), member 1			HIS/ARG,HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	56	55	55		1763,1985	5.1	1	20		55	0,8600		0,0,4300	no	missense,missense	CPXM1	NM_001184699.1,NM_019609.4	29,29	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging,probably-damaging	588/661,662/735	2775056	1,13005	2203	4300	6503	SO:0001583	missense	56265				cell adhesion|proteolysis		metallocarboxypeptidase activity|zinc ion binding	g.chr20:2775056C>T	AL035460	CCDS13033.1	20p13	2012-02-10	2006-08-24	2006-08-24	ENSG00000088882	ENSG00000088882			15771	protein-coding gene	gene with protein product	"carboxypeptidase-like protein X1"	609555	"carboxypeptidase X (M14 family)"	CPXM		14702039	Standard	NM_019609		Approved	CPX-1, CPX1	uc002wgu.3	Q96SM3	OTTHUMG00000031706	ENST00000380605.2:c.1985G>A	20.37:g.2775056C>T	ENSP00000369979:p.Arg662His						p.R662H	NM_001184699.1|NM_019609.4	NP_001171628.1|NP_062555.1	Q96SM3	CPXM1_HUMAN			14	2049	-			662					Q6P4G8|Q6UW65|Q9NUB5	Missense_Mutation	SNP	ENST00000380605.2	37	c.1985G>A	CCDS13033.1	.	.	.	.	.	.	.	.	.	.	c	32	5.156125	0.94686	2.27E-4	0.0	ENSG00000088882	ENST00000380605;ENST00000421947	T	0.42513	0.97	5.12	5.12	0.69794	Peptidase M14, carboxypeptidase A (1);Carboxypeptidase-like, regulatory domain (1);Carboxypeptidase, regulatory domain (1);	0.000000	0.85682	D	0.000000	T	0.75679	0.3882	H	0.96489	3.83	0.51482	D	0.999926	D	0.89917	1.0	D	0.97110	1.0	T	0.83349	-0.0004	10	0.87932	D	0	-24.3659	16.4323	0.83853	0.0:1.0:0.0:0.0	.	662	Q96SM3	CPXM1_HUMAN	H	662;358	ENSP00000369979:R662H	ENSP00000369979:R662H	R	-	2	0	CPXM1	2723056	1.000000	0.71417	1.000000	0.80357	0.934000	0.57294	7.560000	0.82277	2.821000	0.97095	0.651000	0.88453	CGT		0.602	CPXM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077643.2	NM_019609		9	43	0	0	0	1	0	9	43					T	2775056	C	T	2775056	3	4	309	1	0	0	0	0	1	0	0	0	3837	536	19	1	223	1	CPXM1	20	2775056	Missense_Mutation	SNP	C	TCGA-KK-A5A1-01A-11D-A29Q-08		2775056	60250464	116	15931											
NINL	22981	broad.mit.edu	37	chr20	25481559	25481559	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aaaagcgaagccagaaccatCgtcaatgctggagaagaggc	16	4	12	9	2	1	3	1	0	0	3	2	5	1	3	2	2	4	1	2	2	6	0	rs140736402		TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr20:25481559C>T	ENST00000278886.6	-	8	1022	c.949G>A	c.(949-951)Gat>Aat	p.D317N	NINL_ENST00000422516.1_Missense_Mutation_p.D317N	NM_025176.4	NP_079452.3	Q9Y2I6	NINL_HUMAN	ninein-like	317					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	cytosol (GO:0005829)|microtubule (GO:0005874)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(13)|lung(25)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	57						CCAGAACCATCGTCAATGCTG	0.582													C|||	1	0.000199681	0	0	5008	,	,		19663	0		0.001	False		,,,				2504	0					ENST00000278886.6																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(13)|lung(25)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	57						c.(949-951)Gat>Aat		ninein-like		C	ASN/ASP	0,4406		0,0,2203	176	129	145		949	3	0.2	20	dbSNP_134	145	2,8598	2.2+/-6.3	0,2,4298	yes	missense	NINL	NM_025176.4	23	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	probably-damaging	317/1383	25481559	2,13004	2203	4300	6503	SO:0001583	missense	22981				G2/M transition of mitotic cell cycle	cytosol|microtubule|microtubule organizing center	calcium ion binding	g.chr20:25481559C>T		CCDS33452.1	20p11.22-p11.1	2013-01-10			ENSG00000101004	ENSG00000101004		"EF-hand domain containing"	29163	protein-coding gene	gene with protein product	"ninein-like protein"	609580				10231032	Standard	XM_005260678		Approved	KIAA0980, NLP	uc002wux.1	Q9Y2I6	OTTHUMG00000032127	ENST00000278886.6:c.949G>A	20.37:g.25481559C>T	ENSP00000278886:p.Asp317Asn					NINL_ENST00000422516.1_Missense_Mutation_p.D317N	p.D317N	NM_025176.4	NP_079452.3	Q9Y2I6	NINL_HUMAN			8	1022	-			317					A6NJN0|B3V9H6|B7Z1V8|Q5JYP0|Q8NE38|Q9NQE3	Missense_Mutation	SNP	ENST00000278886.6	37	c.949G>A	CCDS33452.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	17.77	3.470322	0.63625	0.0	2.33E-4	ENSG00000101004	ENST00000278886;ENST00000422516	T;T	0.39787	1.35;1.06	5.0	2.95	0.34219	.	0.132796	0.47852	N	0.000204	T	0.38108	0.1028	M	0.77820	2.39	0.41571	D	0.988689	P;P	0.48230	0.798;0.907	B;B	0.37198	0.243;0.086	T	0.33471	-0.9867	10	0.51188	T	0.08	-29.6533	7.9463	0.29989	0.0:0.791:0.0:0.209	.	317;317	Q9Y2I6-2;Q9Y2I6	.;NINL_HUMAN	N	317	ENSP00000278886:D317N;ENSP00000410431:D317N	ENSP00000278886:D317N	D	-	1	0	NINL	25429559	0.979000	0.34478	0.212000	0.23672	0.687000	0.40016	3.109000	0.50345	0.611000	0.30052	0.563000	0.77884	GAT		0.582	NINL-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078445.3	NM_025176		5	64	0	0	0	1	0	5	64					T	25481559	C	T	25481559	3	4	309	1	0	0	0	0	1	0	0	0	10420	884	31	2	3267	2	NINL	20	25481559	Missense_Mutation	SNP	C	TCGA-KK-A5A1-01A-11D-A29Q-08	22706503	25481559	37543961	117	15932											
NCOA6	23054	broad.mit.edu	37	chr20	33337674	33337674	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccataacctgagatggactgTtgttcacaggcccttgctgg	8	11	11	11	0	1	1	1	1	0	1	1	3	1	2	3	3	2	3	3	3	1	4			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr20:33337674T>C	ENST00000374796.2	-	10	4894	c.2324A>G	c.(2323-2325)aAc>aGc	p.N775S	NCOA6_ENST00000359003.2_Missense_Mutation_p.N775S			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	775	CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|NCOA6IP-binding region.|TBP/GTF2A-binding region.				brain development (GO:0007420)|cellular lipid metabolic process (GO:0044255)|cellular response to DNA damage stimulus (GO:0006974)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA-templated transcription, initiation (GO:0006352)|glucocorticoid receptor signaling pathway (GO:0042921)|heart development (GO:0007507)|intracellular estrogen receptor signaling pathway (GO:0030520)|labyrinthine layer blood vessel development (GO:0060716)|myeloid cell differentiation (GO:0030099)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|response to hormone (GO:0009725)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)	histone methyltransferase complex (GO:0035097)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|estrogen receptor binding (GO:0030331)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						AGATGGACTGTTGTTCACAGG	0.557																																						ENST00000374796.2																			0				NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						c.(2323-2325)aAc>aGc		nuclear receptor coactivator 6							77	63	68					20																	33337674		2203	4300	6503	SO:0001583	missense	23054				brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding	g.chr20:33337674T>C	AF128458	CCDS13241.1, CCDS74720.1	20q11	2008-08-01			ENSG00000198646	ENSG00000198646			15936	protein-coding gene	gene with protein product	"nuclear receptor coactivator RAP250", "activating signal cointegrator-2", "peroxisome proliferator-activated receptor interacting protein"	605299				8724849, 8263591	Standard	NM_014071		Approved	KIAA0181, RAP250, ASC2, AIB3, PRIP, TRBP, NRC	uc002xaw.3	Q14686	OTTHUMG00000032311	ENST00000374796.2:c.2324A>G	20.37:g.33337674T>C	ENSP00000363929:p.Asn775Ser					NCOA6_ENST00000359003.2_Missense_Mutation_p.N775S	p.N775S			Q14686	NCOA6_HUMAN			10	4894	-			775			CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|NCOA6IP-binding region.|TBP/GTF2A-binding region.		A6NLF1|B2RMN5|E1P5P7|Q9NTZ9|Q9UH74|Q9UK86	Missense_Mutation	SNP	ENST00000374796.2	37	c.2324A>G	CCDS13241.1	.	.	.	.	.	.	.	.	.	.	T	11.40	1.627907	0.28978	.	.	ENSG00000198646	ENST00000374796;ENST00000359003	T;T	0.24151	1.87;1.87	5.77	2.34	0.29019	.	0.229124	0.37955	N	0.001871	T	0.13713	0.0332	N	0.19112	0.55	0.30277	N	0.791704	B	0.02656	0.0	B	0.04013	0.001	T	0.09773	-1.0659	10	0.30078	T	0.28	-2.2599	7.1359	0.25527	0.0:0.359:0.0:0.641	.	775	Q14686	NCOA6_HUMAN	S	775	ENSP00000363929:N775S;ENSP00000351894:N775S	ENSP00000351894:N775S	N	-	2	0	NCOA6	32801335	0.959000	0.32827	1.000000	0.80357	0.998000	0.95712	0.245000	0.18142	1.017000	0.39495	0.460000	0.39030	AAC		0.557	NCOA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078811.2	NM_014071		10	57	0	0	0	1	0	10	57					C	33337674	T	C	33337674	3	2	309	1	0	0	0	0	1	0	0	0	10233	1725	60	4	3895	4	NCOA6	20	33337674	Missense_Mutation	SNP	T	TCGA-KK-A5A1-01A-11D-A29Q-08	7856115	33337674	29687846	118	15933											
FAM83C	128876	broad.mit.edu	37	chr20	33875239	33875239	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	actggaggaggggccgggagCgaggaagcagaggtgacccc	10	2	20	9	2	0	2	0	1	0	1	0	7	0	6	3	7	2	1	3	7	1	0			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr20:33875239C>T	ENST00000374408.3	-	4	1439	c.1343G>A	c.(1342-1344)cGc>cAc	p.R448H	EIF6_ENST00000462894.1_5'Flank|EIF6_ENST00000374436.3_5'Flank|EIF6_ENST00000374450.3_5'Flank|FAM83C-AS1_ENST00000429167.1_RNA|EIF6_ENST00000374443.3_5'Flank	NM_178468.5	NP_848563.1	Q9BQN1	FA83C_HUMAN	family with sequence similarity 83, member C	448										central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(18;0.00252)			GGGCCGGGAGCGAGGAAGCAG	0.647																																						ENST00000374408.3																			0				central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						c.(1342-1344)cGc>cAc		family with sequence similarity 83, member C							38	34	36					20																	33875239		2203	4300	6503	SO:0001583	missense	128876							g.chr20:33875239C>T	AL121753	CCDS13251.1	20q11.22	2011-04-01	2006-03-23	2006-03-23	ENSG00000125998	ENSG00000125998			16121	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 128"	C20orf128			Standard	NM_178468		Approved	dJ614O4.7	uc021wck.1	Q9BQN1	OTTHUMG00000032332	ENST00000374408.3:c.1343G>A	20.37:g.33875239C>T	ENSP00000363529:p.Arg448His						p.R448H	NM_178468.5	NP_848563.1	Q9BQN1	FA83C_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.00252)		4	1439	-			448					Q14D67|Q5JWN6|Q8N276	Missense_Mutation	SNP	ENST00000374408.3	37	c.1343G>A	CCDS13251.1	.	.	.	.	.	.	.	.	.	.	C	9.797	1.179452	0.21787	.	.	ENSG00000125998	ENST00000374408	T	0.06768	3.26	4.8	0.385	0.16249	.	0.888176	0.09695	N	0.767816	T	0.07863	0.0197	L	0.48877	1.53	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.36648	-0.9739	10	0.54805	T	0.06	-17.195	4.6221	0.12460	0.0:0.5523:0.1569:0.2907	.	448	Q9BQN1	FA83C_HUMAN	H	448	ENSP00000363529:R448H	ENSP00000363529:R448H	R	-	2	0	FAM83C	33338653	0.000000	0.05858	0.000000	0.03702	0.944000	0.59088	-0.348000	0.07740	-0.078000	0.12730	0.555000	0.69702	CGC		0.647	FAM83C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078854.3			14	44	0	0	0	1	0	14	44					T	33875239	C	T	33875239	3	4	309	1	0	0	0	0	1	0	0	0	5635	768	27	1	904	1	FAM83C	20	33875239	Missense_Mutation	SNP	C	TCGA-KK-A5A1-01A-11D-A29Q-08	537565	33875239	29150281	119	15934											
SYNJ1	8867	broad.mit.edu	37	chr21	34038327	34038327	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gacttgtgactgccctgcagCaaagtggctacagacgaagc	11	7	12	11	1	0	2	0	1	0	1	0	4	0	2	1	1	5	3	1	1	3	2			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr21:34038327C>A	ENST00000322229.7	-	16	2070	c.2071G>T	c.(2071-2073)Gct>Tct	p.A691S	SYNJ1_ENST00000357345.3_Missense_Mutation_p.A691S|SYNJ1_ENST00000382499.2_Missense_Mutation_p.A730S|SYNJ1_ENST00000433931.2_Missense_Mutation_p.A730S|SYNJ1_ENST00000382491.3_Missense_Mutation_p.A686S			O43426	SYNJ1_HUMAN	synaptojanin 1	691	Catalytic. {ECO:0000255}.				cell death (GO:0008219)|inositol phosphate metabolic process (GO:0043647)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|positive regulation of synaptic vesicle uncoating (GO:1903390)|regulation of synaptic vesicle membrane organization (GO:1901632)|small molecule metabolic process (GO:0044281)|synaptic vesicle endocytosis (GO:0048488)	cytosol (GO:0005829)	inositol-polyphosphate 5-phosphatase activity (GO:0004445)|nucleotide binding (GO:0000166)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)|RNA binding (GO:0003723)			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|lung(11)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	57						TGCCCTGCAGCAAAGTGGCTA	0.428																																						ENST00000382499.2																			0				breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|lung(11)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	57						c.(2188-2190)Gct>Tct		synaptojanin 1							79	64	69					21																	34038327		2203	4300	6503	SO:0001583	missense	8867						inositol-polyphosphate 5-phosphatase activity|nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding	g.chr21:34038327C>A	AF009040	CCDS33539.1, CCDS33540.1, CCDS33539.2, CCDS33540.2, CCDS54483.1	21q22.2	2008-06-23			ENSG00000159082	ENSG00000159082			11503	protein-coding gene	gene with protein product		604297				9428629, 10773674	Standard	NM_203446		Approved	INPP5G	uc002yqh.2	O43426	OTTHUMG00000064926	ENST00000322229.7:c.2071G>T	21.37:g.34038327C>A	ENSP00000322234:p.Ala691Ser					SYNJ1_ENST00000322229.7_Missense_Mutation_p.A691S|SYNJ1_ENST00000433931.2_Missense_Mutation_p.A730S|SYNJ1_ENST00000382491.3_Missense_Mutation_p.A686S|SYNJ1_ENST00000357345.3_Missense_Mutation_p.A691S	p.A730S	NM_203446.2	NP_982271.2	O43426	SYNJ1_HUMAN			17	2187	-			691			Catalytic (Potential).		O43425|O94984|Q4KMR1	Missense_Mutation	SNP	ENST00000322229.7	37	c.2188G>T	CCDS54484.1	.	.	.	.	.	.	.	.	.	.	C	29.5	5.011851	0.93346	.	.	ENSG00000159082	ENST00000382491;ENST00000357345;ENST00000382499;ENST00000433931;ENST00000322229;ENST00000429236	T;T;T;T;T;T	0.80566	-1.39;-1.39;-1.39;-1.39;-1.39;-1.39	6.04	5.14	0.70334	Endonuclease/exonuclease/phosphatase (2);Inositol polyphosphate-related phosphatase (1);	0.202033	0.51477	D	0.000091	D	0.88559	0.6469	M	0.64676	1.99	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.996;0.991;1.0;0.994;0.997	D	0.89692	0.3898	10	0.72032	D	0.01	.	17.2729	0.87107	0.0:0.8745:0.1255:0.0	.	686;730;691;691;691	B9EGN3;C9JFZ1;O43426-2;O43426;O43426-4	.;.;.;SYNJ1_HUMAN;.	S	686;691;730;730;691;686	ENSP00000371931:A686S;ENSP00000349903:A691S;ENSP00000371939:A730S;ENSP00000409667:A730S;ENSP00000322234:A691S;ENSP00000413649:A686S	ENSP00000322234:A691S	A	-	1	0	SYNJ1	32960198	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.026000	0.70873	1.527000	0.49086	0.561000	0.74099	GCT		0.428	SYNJ1-201	KNOWN	basic|CCDS	protein_coding	protein_coding				6	36	1	0	3.59834e-05	1	4.01353e-05	6	36					A	34038327	C	A	34038327	3	1	309	1	0	0	0	0	1	0	0	0	15449	710	25	5	2739	5	SYNJ1	21	34038327	Missense_Mutation	SNP	C	TCGA-KK-A5A1-01A-11D-A29Q-08		34038327	14091568	120	15935											
SON	6651	broad.mit.edu	37	chr21	34922689	34922689	+	Frame_Shift_Del	DEL	G	G	-																															gcctcagcgatggagttgccGgggccacctgcgacctccat																								rs551886377		TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr21:34922689delG	ENST00000356577.4	+	3	1627	c.1152delG	c.(1150-1152)ccgfs	p.P384fs	SON_ENST00000381692.2_Intron|SON_ENST00000300278.4_Frame_Shift_Del_p.P384fs|SON_ENST00000381679.4_Frame_Shift_Del_p.P384fs|SON_ENST00000290239.6_Frame_Shift_Del_p.P384fs	NM_138927.1	NP_620305	P18583	SON_HUMAN	SON DNA binding protein	384					cytokinesis (GO:0000910)|microtubule cytoskeleton organization (GO:0000226)|mRNA processing (GO:0006397)|negative regulation of apoptotic process (GO:0043066)|regulation of cell cycle (GO:0051726)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nuclear speck (GO:0016607)|nucleus (GO:0005634)	DNA binding (GO:0003677)|nucleic acid binding (GO:0003676)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(3)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(25)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	72						TGGAGTTGCCGGGGCCACCTG	0.642																																						ENST00000356577.4																			0				breast(3)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(25)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	72						c.(1150-1152)ccfs		SON DNA binding protein																																				SO:0001589	frameshift_variant	6651				anti-apoptosis|cytokinesis|mRNA processing|regulation of cell cycle|regulation of RNA splicing|RNA splicing|spindle pole body separation	nuclear speck	DNA binding|double-stranded RNA binding	g.chr21:34922689delG	AF380181	CCDS13629.1, CCDS13631.1, CCDS74784.1	21q22.1-q22.2	2013-01-28			ENSG00000159140	ENSG00000159140		"G patch domain containing"	11183	protein-coding gene	gene with protein product	"NRE-binding protein", "negative regulatory element-binding protein", "Bax antagonist selected in Saccharomyces 1"	182465		C21orf50		8318737, 21551269	Standard	NM_032195		Approved	DBP-5, NREBP, KIAA1019, BASS1, FLJ21099, FLJ33914	uc002yse.1	P18583	OTTHUMG00000065806	ENST00000356577.4:c.1152delG	21.37:g.34922689delG	ENSP00000348984:p.Pro384fs					SON_ENST00000381679.4_Frame_Shift_Del_p.P384fs|SON_ENST00000381692.2_Intron|SON_ENST00000290239.6_Frame_Shift_Del_p.P384fs|SON_ENST00000300278.4_Frame_Shift_Del_p.P384fs	p.P384fs	NM_138927.1	NP_620305.1	P18583	SON_HUMAN			3	1627	+			384					D3DSF5|D3DSF6|E7ETE8|E7EU67|E7EVW3|E9PFQ2|O14487|O95981|Q14120|Q6PKE0|Q9H7B1|Q9P070|Q9P072|Q9UKP9|Q9UPY0	Frame_Shift_Del	DEL	ENST00000356577.4	37	c.1152delG	CCDS13629.1																																																																																				0.642	SON-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000140978.2	NM_138927		24	103						24	103	---	---	---	---	-	34922689	G	-	34922689	7	5	309	1	0	1	0	1	0	0	0	0	14926	1103	39	0	1162	0	SON	21	34922689	Frame_Shift_Del	DEL	G	TCGA-KK-A5A1-01A-11D-A29Q-08	884362	34922689	13207206	121	15936											
TMPRSS6	164656	broad.mit.edu	37	chr22	37480809	37480809	+	Frame_Shift_Del	DEL	G	G	-																															gtttggggcgagtagtagctGgggaagtacggggtgctgag																										TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr22:37480809delG	ENST00000346753.3	-	9	1187	c.1071delC	c.(1069-1071)cccfs	p.P357fs	TMPRSS6_ENST00000442782.2_Frame_Shift_Del_p.P357fs|RP5-1170K4.7_ENST00000414203.2_RNA|TMPRSS6_ENST00000406856.1_Frame_Shift_Del_p.P348fs|TMPRSS6_ENST00000406725.1_Frame_Shift_Del_p.P348fs|TMPRSS6_ENST00000381792.2_Frame_Shift_Del_p.P348fs	NM_153609.2	NP_705837.1	Q8IU80	TMPS6_HUMAN	transmembrane protease, serine 6	357	CUB 2. {ECO:0000255|PROSITE- ProRule:PRU00059}.				angiogenesis (GO:0001525)|extracellular matrix organization (GO:0030198)|fibrinolysis (GO:0042730)|intracellular signal transduction (GO:0035556)|iron ion homeostasis (GO:0055072)|proteolysis (GO:0006508)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)			breast(5)|central_nervous_system(4)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)	40						AGTAGTAGCTGGGGAAGTACG	0.637																																						ENST00000381792.2																			0				breast(5)|central_nervous_system(4)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)	40						c.(1042-1044)ccfs		transmembrane protease, serine 6							84	71	76					22																	37480809		2199	4290	6489	SO:0001589	frameshift_variant	164656				angiogenesis|extracellular matrix organization|fibrinolysis|intracellular signal transduction|proteolysis	integral to membrane|intracellular|plasma membrane	serine-type endopeptidase activity	g.chr22:37480809delG	AY055383	CCDS13941.1, CCDS74856.1, CCDS74857.1	22q13.1	2010-04-13			ENSG00000187045	ENSG00000187045		"Serine peptidases / Transmembrane"	16517	protein-coding gene	gene with protein product		609862					Standard	NM_001289000		Approved	FLJ30744	uc003aqs.1	Q8IU80	OTTHUMG00000150541	ENST00000346753.3:c.1071delC	22.37:g.37480809delG	ENSP00000334962:p.Pro357fs					TMPRSS6_ENST00000442782.2_Frame_Shift_Del_p.P357fs|TMPRSS6_ENST00000406725.1_Frame_Shift_Del_p.P348fs|TMPRSS6_ENST00000406856.1_Frame_Shift_Del_p.P348fs|TMPRSS6_ENST00000346753.3_Frame_Shift_Del_p.P357fs	p.P348fs			Q8IU80	TMPS6_HUMAN			9	1184	-			357			CUB 2.		B0QYB4|B0QYB7|B0QYB8|Q5TI06|Q6ICC2|Q6UXD8|Q8IUE2|Q8IXV8	Frame_Shift_Del	DEL	ENST00000346753.3	37	c.1044delC	CCDS13941.1																																																																																				0.637	TMPRSS6-003	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000318822.1	NM_153609		2	4						2	4	---	---	---	---	-	37480809	G	-	37480809	7	5	309	1	0	1	0	1	0	0	0	0	16248	1335	47	0	1404	0	TMPRSS6	22	37480809	Frame_Shift_Del	DEL	G	TCGA-KK-A5A1-01A-11D-A29Q-08		37480809	13823757	122	15937											
XPNPEP3	63929	broad.mit.edu	37	chr22	41282353	41282353	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ttggtatgactggatgaggcCctcacatgcacagcttcact	9	11	10	11	0	2	2	2	2	0	0	2	3	2	3	1	3	2	3	1	3	1	3			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr22:41282353C>T	ENST00000357137.4	+	4	710	c.626C>T	c.(625-627)cCc>cTc	p.P209L	XPNPEP3_ENST00000541156.1_Missense_Mutation_p.P209L|XPNPEP3_ENST00000414396.1_Missense_Mutation_p.P209L|XPNPEP3_ENST00000544094.1_Missense_Mutation_p.P186L	NM_022098.3	NP_071381.1	Q9NQH7	XPP3_HUMAN	X-prolyl aminopeptidase (aminopeptidase P) 3, putative	209					glomerular filtration (GO:0003094)|protein processing (GO:0016485)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	aminopeptidase activity (GO:0004177)|manganese ion binding (GO:0030145)|metallopeptidase activity (GO:0008237)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	17						TGGATGAGGCCCTCACATGCA	0.458																																					Ovarian(145;306 1841 7037 21878 30110)	ENST00000357137.4																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	17						c.(625-627)cCc>cTc		X-prolyl aminopeptidase (aminopeptidase P) 3, putative							118	113	115					22																	41282353		2203	4300	6503	SO:0001583	missense	63929				cellular process	mitochondrion	aminopeptidase activity|manganese ion binding|metallopeptidase activity	g.chr22:41282353C>T		CCDS14007.1, CCDS74869.1	22q13.2	2010-07-20			ENSG00000196236	ENSG00000196236			28052	protein-coding gene	gene with protein product		613553				15708373, 20179356	Standard	NM_022098		Approved	APP3, NPHPL1	uc003azh.3	Q9NQH7	OTTHUMG00000151312	ENST00000357137.4:c.626C>T	22.37:g.41282353C>T	ENSP00000349658:p.Pro209Leu					XPNPEP3_ENST00000414396.1_Missense_Mutation_p.P209L|XPNPEP3_ENST00000544094.1_Missense_Mutation_p.P186L|XPNPEP3_ENST00000541156.1_Missense_Mutation_p.P209L	p.P209L	NM_022098.3	NP_071381.1	Q9NQH7	XPP3_HUMAN			4	710	+			209					B2R9G1|B7Z790|B7Z7B2|Q6I9V9|Q8NDA6|Q9BV27|Q9BVH0	Missense_Mutation	SNP	ENST00000357137.4	37	c.626C>T	CCDS14007.1	.	.	.	.	.	.	.	.	.	.	C	16.84	3.232978	0.58777	.	.	ENSG00000196236	ENST00000541156;ENST00000414396;ENST00000357137;ENST00000544094	T;T;T;T	0.77620	-1.11;-1.11;-1.11;-1.11	5.86	4.84	0.62591	.	0.000000	0.85682	D	0.000000	T	0.81564	0.4849	L	0.38175	1.15	0.80722	D	1	D;D	0.89917	0.992;1.0	P;D	0.79784	0.804;0.993	T	0.77024	-0.2741	10	0.12103	T	0.63	-17.9385	17.1344	0.86735	0.0:0.8736:0.1264:0.0	.	209;209	Q9NQH7-5;Q9NQH7	.;XPP3_HUMAN	L	209;209;209;186	ENSP00000443682:P209L;ENSP00000397110:P209L;ENSP00000349658:P209L;ENSP00000441942:P186L	ENSP00000349658:P209L	P	+	2	0	XPNPEP3	39612299	1.000000	0.71417	0.888000	0.34837	0.785000	0.44390	5.982000	0.70532	1.475000	0.48197	-0.172000	0.13284	CCC		0.458	XPNPEP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322201.2	NM_022098		37	56	0	0	0	1	0	37	56					T	41282353	C	T	41282353	3	4	309	1	0	0	0	0	1	0	0	0	17441	623	22	3	640	3	XPNPEP3	22	41282353	Missense_Mutation	SNP	C	TCGA-KK-A5A1-01A-11D-A29Q-08	3801544	41282353	10022213	123	15938											
KIAA1644	85352	broad.mit.edu	37	chr22	44681558	44681558	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cattgccgagtaatacaaaaGgtccagaaccagcagcatca	16	6	8	11	1	1	1	1	0	0	1	2	2	2	1	3	1	5	3	3	1	5	3			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr22:44681558G>C	ENST00000381176.4	-	4	481	c.349C>G	c.(349-351)Ctt>Gtt	p.L117V		NM_001099294.1	NP_001092764.1	Q3SXP7	K1644_HUMAN	KIAA1644	117						integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	9		all_neural(38;0.0762)|Ovarian(80;0.105)|Glioma(61;0.222)				TAATACAAAAGGTCCAGAACC	0.532																																						ENST00000381176.4																			0				breast(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	9						c.(349-351)Ctt>Gtt		KIAA1644							184	178	180					22																	44681558		2069	4213	6282	SO:0001583	missense	85352					integral to membrane		g.chr22:44681558G>C	AB051431	CCDS43025.1	22q13	2009-02-06	2009-02-06		ENSG00000138944	ENSG00000138944			29335	protein-coding gene	gene with protein product						11258795	Standard	NM_001099294		Approved		uc003bet.2	Q3SXP7	OTTHUMG00000030991	ENST00000381176.4:c.349C>G	22.37:g.44681558G>C	ENSP00000370568:p.Leu117Val						p.L117V	NM_001099294.1	NP_001092764.1	Q3SXP7	K1644_HUMAN			4	481	-		all_neural(38;0.0762)|Ovarian(80;0.105)|Glioma(61;0.222)	117					A6NHP0|A9Z1Z0|Q3SXP8|Q5JZ71|Q9BYB5	Missense_Mutation	SNP	ENST00000381176.4	37	c.349C>G	CCDS43025.1	.	.	.	.	.	.	.	.	.	.	G	18.18	3.566521	0.65651	.	.	ENSG00000138944	ENST00000381176	.	.	.	5.06	5.06	0.68205	.	0.062767	0.64402	D	0.000003	T	0.48259	0.1490	N	0.24115	0.695	0.28259	N	0.924934	P	0.50156	0.932	P	0.48571	0.582	T	0.62774	-0.6783	8	0.66056	D	0.02	-17.0177	15.5806	0.76432	0.0:0.0:1.0:0.0	.	117	Q3SXP7	K1644_HUMAN	V	117	.	ENSP00000370568:L117V	L	-	1	0	KIAA1644	43012891	1.000000	0.71417	0.518000	0.27811	0.963000	0.63663	5.396000	0.66297	2.345000	0.79718	0.561000	0.74099	CTT		0.532	KIAA1644-006	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000075879.2	NM_001099294		53	268	0	0	0	1	0	53	268					C	44681558	G	C	44681558	3	2	309	1	0	0	0	0	1	0	0	0	8250	1000	35	5	258	5	KIAA1644	22	44681558	Missense_Mutation	SNP	G	TCGA-KK-A5A1-01A-11D-A29Q-08	3399205	44681558	6623008	124	15939											
VAMP7	6845	broad.mit.edu	37	chrX	155119202	155119202	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atgcttggtgtggaggaaacTtcctggaggtgacagagcag	10	9	16	6	0	0	2	0	1	0	1	1	5	1	5	1	5	3	2	1	5	1	2			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chrX:155119202T>C	ENST00000286448.6	+	2	238	c.73T>C	c.(73-75)Ttc>Ctc	p.F25L	VAMP7_ENST00000479687.1_3'UTR|VAMP7_ENST00000262640.6_Missense_Mutation_p.F25L|VAMP7_ENST00000460621.1_Missense_Mutation_p.F25L	NM_001145149.2|NM_005638.5	NP_001138621.1|NP_005629.1	P51809	VAMP7_HUMAN	vesicle-associated membrane protein 7	25	Longin. {ECO:0000255|PROSITE- ProRule:PRU00231}.				calcium ion-dependent exocytosis (GO:0017156)|endosome to lysosome transport (GO:0008333)|eosinophil degranulation (GO:0043308)|ER to Golgi vesicle-mediated transport (GO:0006888)|Golgi to plasma membrane protein transport (GO:0043001)|membrane organization (GO:0061024)|neutrophil degranulation (GO:0043312)|phagocytosis, engulfment (GO:0006911)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of protein targeting to vacuolar membrane (GO:1900483)|SNARE complex assembly (GO:0035493)|triglyceride transport (GO:0034197)|vesicle fusion (GO:0006906)|vesicle fusion with Golgi apparatus (GO:0048280)|vesicle-mediated transport (GO:0016192)	apical part of cell (GO:0045177)|cell junction (GO:0030054)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)|SNARE complex (GO:0031201)|synapse (GO:0045202)				large_intestine(1)|lung(8)	9	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					TGGAGGAAACTTCCTGGAGGT	0.453																																						ENST00000286448.6																			0				large_intestine(1)|lung(8)	9						c.(73-75)Ttc>Ctc		vesicle-associated membrane protein 7							278	268	272					X																	155119202		2203	4296	6499	SO:0001583	missense	6845				calcium ion-dependent exocytosis|endosome to lysosome transport|eosinophil degranulation|ER to Golgi vesicle-mediated transport|neutrophil degranulation|phagocytosis, engulfment|post-Golgi vesicle-mediated transport|protein transport|vesicle fusion	endoplasmic reticulum membrane|Golgi apparatus|integral to membrane|late endosome membrane|lysosomal membrane|phagocytic vesicle membrane|plasma membrane|SNARE complex|transport vesicle membrane	protein binding	g.chrX:155119202T>C	AJ295938	CCDS14770.4, CCDS48199.1, CCDS55548.1	Xq28 and Yq12	2013-02-13	2007-12-05	2007-12-05	ENSG00000124333	ENSG00000124333		"Pseudoautosomal regions / PAR2", "Vesicle-associated membrane proteins"	11486	protein-coding gene	gene with protein product		300053	"synaptobrevin-like 1"	SYBL1		8640232, 11440841	Standard	NM_001145149		Approved	VAMP-7, TI-VAMP	uc004fns.3	P51809	OTTHUMG00000022679	ENST00000286448.6:c.73T>C	X.37:g.155119202T>C	ENSP00000286448:p.Phe25Leu					VAMP7_ENST00000262640.6_Missense_Mutation_p.F25L|VAMP7_ENST00000460621.1_Missense_Mutation_p.F25L|VAMP7_ENST00000479687.1_3'UTR	p.F25L	NM_001145149.2|NM_005638.5	NP_001138621.1|NP_005629.1	P51809	VAMP7_HUMAN			2	238	+	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)		25			Longin.		Q53GY7|Q7Z409|Q9H4A7	Missense_Mutation	SNP	ENST00000286448.6	37	c.73T>C	CCDS14770.4	.	.	.	.	.	.	.	.	.	.	T	20.5	3.995532	0.74703	.	.	ENSG00000124333	ENST00000286448;ENST00000262640;ENST00000460621	T;T;T	0.24723	1.97;1.97;1.84	2.83	2.83	0.33086	Longin (2);Longin-like (1);	0.000000	0.85682	D	0.000000	T	0.44138	0.1279	.	.	.	0.09310	N	1	D;D;D	0.89917	1.0;1.0;0.998	D;D;D	0.91635	0.983;0.999;0.932	T	0.10451	-1.0629	9	0.62326	D	0.03	.	8.6299	0.33913	0.0:0.0:0.0:1.0	.	25;25;25	P51809-3;P51809-2;P51809	.;.;VAMP7_HUMAN	L	25	ENSP00000286448:F25L;ENSP00000262640:F25L;ENSP00000427822:F25L	ENSP00000262640:F25L	F	+	1	0	VAMP7	154772396	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	7.865000	0.87049	1.381000	0.46364	0.238000	0.17879	TTC		0.453	VAMP7-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058843.1	NM_005638		15	69	0	0	0	1	0	15	69					C	155119202	T	C	155119202	3	2	309	1	0	0	0	0	1	0	0	0	17114	1609	56	4	75	4	VAMP7	23	155119202	Missense_Mutation	SNP	T	TCGA-KK-A5A1-01A-11D-A29Q-08		155119202	151358	125	15940											
CSMD2	114784	broad.mit.edu	37	chr1	34003036	34003036	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctccagatgacctctcacCtatgcagctgggctgggtgc	6	10	12	13	0	1	2	1	1	1	1	3	2	2	2	3	2	4	4	3	2	1	1			TCGA-KK-A6DY-01A-12D-A30X-08	TCGA-KK-A6DY-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18ee8074-9dce-4718-bedf-7f58f009bffb	0a005527-1b2e-4204-8474-df49da92cb18	g.chr1:34003036C>T	ENST00000373381.4	-	61	9981	c.9805G>A	c.(9805-9807)Gat>Aat	p.D3269N		NM_001281956.1|NM_052896.3	NP_001268885.1|NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	3247						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				GACCTCTCACCTATGCAGCTG	0.582																																						ENST00000373381.4																			0				NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246						c.e61+1		CUB and Sushi multiple domains 2							101	105	104					1																	34003036		2203	4300	6503	SO:0001630	splice_region_variant	114784					integral to membrane|plasma membrane	protein binding	g.chr1:34003036C>T	AY210418	CCDS380.1, CCDS60082.1	1p34.3	2014-01-28			ENSG00000121904	ENSG00000121904			19290	protein-coding gene	gene with protein product		608398				11472063, 11572484	Standard	NM_001281956		Approved	KIAA1884	uc001bxn.1	Q7Z408	OTTHUMG00000011135	ENST00000373381.4:c.9805+1G>A	1.37:g.34003036C>T							p.D3269_splice	NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN			61	9981	-		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)	3247					B1AM50|E7EUA6|Q53TY4|Q5VT59|Q8N963|Q96Q03|Q9H4V7|Q9H4V8|Q9H4V9|Q9H4W0|Q9H4W1|Q9H4W2|Q9H4W3|Q9H4W4|Q9HCY5|Q9HCY6|Q9HCY7	Splice_Site	SNP	ENST00000373381.4	37	c.9805_splice		.	.	.	.	.	.	.	.	.	.	C	15.97	2.990137	0.54041	.	.	ENSG00000121904	ENST00000373381	T	0.25579	1.79	5.66	5.66	0.87406	Sushi/SCR/CCP (1);	0.053759	0.64402	N	0.000001	T	0.36663	0.0975	M	0.75264	2.295	0.80722	D	1	B;B	0.17268	0.003;0.021	B;B	0.30029	0.016;0.11	T	0.12142	-1.0559	9	.	.	.	.	18.7275	0.91720	0.0:1.0:0.0:0.0	.	3125;3269	Q7Z408;E7EUA6	CSMD2_HUMAN;.	N	3269	ENSP00000362479:D3269N	.	D	-	1	0	CSMD2	33775623	1.000000	0.71417	1.000000	0.80357	0.018000	0.09664	7.718000	0.84743	2.673000	0.90976	0.555000	0.69702	GAT		0.582	CSMD2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_052896	Missense_Mutation	5	152	0	0	0	1	0	5	152					T	34003036	C	T	34003036	5	4	310	1	0	0	0	0	0	0	1	0	3945	695	24	3	1130	3	CSMD2	1	34003036	Splice_Site	SNP	C	TCGA-KK-A6DY-01A-12D-A30X-08		34003036	215247585	1	15941											
COL9A2	1298	broad.mit.edu	37	chr1	40776809	40776809	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	acccagaatcccgcgtttgcCcgcatgcccctgaagggaag	9	6	11	15	3	0	2	0	1	0	1	1	3	1	3	5	1	2	2	5	1	3	1			TCGA-KK-A6DY-01A-12D-A30X-08	TCGA-KK-A6DY-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18ee8074-9dce-4718-bedf-7f58f009bffb	0a005527-1b2e-4204-8474-df49da92cb18	g.chr1:40776809C>A	ENST00000372748.3	-	12	682	c.586G>T	c.(586-588)Ggc>Tgc	p.G196C		NM_001852.3	NP_001843.1	Q14055	CO9A2_HUMAN	collagen, type IX, alpha 2	196	Triple-helical region 3 (COL3).				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	collagen type IX trimer (GO:0005594)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(4)|stomach(2)|urinary_tract(2)	22	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;2.08e-17)			CCGCGTTTGCCCGCATGCCCC	0.617																																						ENST00000372748.3																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(4)|stomach(2)|urinary_tract(2)	22						c.(586-588)Ggc>Tgc		collagen, type IX, alpha 2							145	123	131					1																	40776809		2203	4300	6503	SO:0001583	missense	1298				axon guidance|skeletal system development	collagen type IX		g.chr1:40776809C>A	M95610	CCDS450.1	1p33-p32	2013-01-16			ENSG00000049089	ENSG00000049089		"Proteoglycans / Extracellular Matrix : Collagen proteoglycans", "Collagens"	2218	protein-coding gene	gene with protein product		120260		EDM2		8454052, 8528240, 1429648	Standard	NM_001852		Approved	MED	uc001cfh.1	Q14055	OTTHUMG00000005761	ENST00000372748.3:c.586G>T	1.37:g.40776809C>A	ENSP00000361834:p.Gly196Cys						p.G196C	NM_001852.3	NP_001843.1	Q14055	CO9A2_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;2.08e-17)		12	682	-	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	196			Triple-helical region 3 (COL3).		B2RMP9	Missense_Mutation	SNP	ENST00000372748.3	37	c.586G>T	CCDS450.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	24.6|24.6	4.544455|4.544455	0.86022|0.86022	.|.	.|.	ENSG00000049089|ENSG00000049089	ENST00000372748|ENST00000417105	D|.	0.99369|.	-5.78|.	5.63|5.63	5.63|5.63	0.86233|0.86233	.|.	0.049453|0.049453	0.85682|0.85682	D|D	0.000000|0.000000	D|D	0.89529|0.89529	0.6741|0.6741	H|H	0.99104|0.99104	4.43|4.43	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.97110|.	1.0|.	D|D	0.93363|0.93363	0.6728|0.6728	10|6	0.87932|.	D|.	0|.	.|.	15.2358|15.2358	0.73430|0.73430	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	196|.	Q14055|.	CO9A2_HUMAN|.	C|V	196|184	ENSP00000361834:G196C|.	ENSP00000361834:G196C|.	G|G	-|-	1|2	0|0	COL9A2|COL9A2	40549396|40549396	0.825000|0.825000	0.29262|0.29262	0.570000|0.570000	0.28473|0.28473	0.175000|0.175000	0.22909|0.22909	1.972000|1.972000	0.40540|0.40540	2.660000|2.660000	0.90430|0.90430	0.558000|0.558000	0.71614|0.71614	GGC|GGG		0.617	COL9A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000015764.3	NM_001852		14	58	1	0	0.00244969	1	0.00261578	14	58					A	40776809	C	A	40776809	3	1	310	1	0	0	0	0	1	0	0	0	3708	623	22	5	1567	5	COL9A2	1	40776809	Missense_Mutation	SNP	C	TCGA-KK-A6DY-01A-12D-A30X-08	6773773	40776809	208473812	2	15942											
PIK3R3	8503	broad.mit.edu	37	chr1	46527681	46527681	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgttcttgtgtgtgacactgCtcttcaaatattttaattgt	8	20	7	6	0	3	1	1	1	2	0	3	1	3	1	0	0	1	2	0	0	3	7			TCGA-KK-A6DY-01A-12D-A30X-08	TCGA-KK-A6DY-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18ee8074-9dce-4718-bedf-7f58f009bffb	0a005527-1b2e-4204-8474-df49da92cb18	g.chr1:46527681C>T	ENST00000262741.5	-	6	1373	c.684G>A	c.(682-684)gaG>gaA	p.E228E	PIK3R3_ENST00000354242.4_Silent_p.E228E|PIK3R3_ENST00000423209.1_Silent_p.E228E|PIK3R3_ENST00000372006.1_Silent_p.E228E|PIK3R3_ENST00000540385.1_Silent_p.E274E|PIK3R3_ENST00000420542.1_Silent_p.E228E|PIK3R3_ENST00000340332.6_Silent_p.E192E	NM_003629.3	NP_003620.3	Q92569	P55G_HUMAN	phosphoinositide-3-kinase, regulatory subunit 3 (gamma)	228					insulin receptor signaling pathway (GO:0008286)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|phosphatidylinositol 3-kinase complex (GO:0005942)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|phosphatidylinositol 3-kinase regulator activity (GO:0035014)			endometrium(1)|large_intestine(5)|lung(6)|prostate(2)	14	Acute lymphoblastic leukemia(166;0.155)				Isoprenaline(DB01064)	TGTGACACTGCTCTTCAAATA	0.358																																						ENST00000262741.5																			0				endometrium(1)|large_intestine(5)|lung(6)|prostate(2)	14						c.(682-684)gaG>gaA		phosphoinositide-3-kinase, regulatory subunit 3 (gamma)							222	207	212					1																	46527681		2203	4300	6503	SO:0001819	synonymous_variant	8503				insulin receptor signaling pathway|platelet activation|T cell costimulation		1-phosphatidylinositol-3-kinase activity|protein binding	g.chr1:46527681C>T	BC021622	CCDS529.1	1p34.1	2013-02-14	2008-02-04		ENSG00000117461	ENSG00000117461		"SH2 domain containing"	8981	protein-coding gene	gene with protein product		606076				9524259	Standard	NM_003629		Approved	p55	uc001cpb.4	Q92569	OTTHUMG00000008096	ENST00000262741.5:c.684G>A	1.37:g.46527681C>T						PIK3R3_ENST00000420542.1_Silent_p.E228E|PIK3R3_ENST00000354242.4_Silent_p.E228E|PIK3R3_ENST00000540385.1_Silent_p.E274E|PIK3R3_ENST00000423209.1_Silent_p.E228E|PIK3R3_ENST00000372006.1_Silent_p.E228E|PIK3R3_ENST00000340332.6_Silent_p.E192E	p.E228E	NM_003629.3	NP_003620.3	Q92569	P55G_HUMAN			6	1373	-	Acute lymphoblastic leukemia(166;0.155)		228					B2R9C1|D3DQ12|O60482|Q5T4P1|Q5T4P2	Silent	SNP	ENST00000262741.5	37	c.684G>A	CCDS529.1																																																																																				0.358	PIK3R3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022171.1	NM_003629		17	123	0	0	0	1	0	17	123					T	46527681	C	T	46527681	2	4	310	1	0	0	0	0	0	0	0	1	11920	796	28	3		3	PIK3R3	1	46527681	Silent	SNP	C	TCGA-KK-A6DY-01A-12D-A30X-08	5750872	46527681	202722940	3	15943											
STIL	6491	broad.mit.edu	37	chr1	47755173	47755173	+	Nonsense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagtcaggtatcttgccatcAcaagggaagcattcataaaa	16	9	8	8	0	4	0	3	0	1	0	4	1	4	1	1	2	2	2	1	2	6	4			TCGA-KK-A6DY-01A-12D-A30X-08	TCGA-KK-A6DY-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18ee8074-9dce-4718-bedf-7f58f009bffb	0a005527-1b2e-4204-8474-df49da92cb18	g.chr1:47755173A>T	ENST00000360380.3	-	10	1320	c.957T>A	c.(955-957)tgT>tgA	p.C319*	STIL_ENST00000337817.5_Nonsense_Mutation_p.C319*|STIL_ENST00000396221.2_Nonsense_Mutation_p.C319*|STIL_ENST00000371877.3_Nonsense_Mutation_p.C319*|STIL_ENST00000243182.6_Nonsense_Mutation_p.C319*	NM_001282936.1	NP_001269865.1	Q15468	STIL_HUMAN	SCL/TAL1 interrupting locus	319					cell proliferation (GO:0008283)|determination of left/right symmetry (GO:0007368)|embryonic axis specification (GO:0000578)|floor plate development (GO:0033504)|forebrain development (GO:0030900)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|neural tube closure (GO:0001843)|neural tube development (GO:0021915)|notochord development (GO:0030903)|smoothened signaling pathway (GO:0007224)	centrosome (GO:0005813)|cytoplasm (GO:0005737)				central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	36		Acute lymphoblastic leukemia(5;0.00116)|all_hematologic(5;0.00444)				TCTTGCCATCACAAGGGAAGC	0.353																																						ENST00000360380.3																			0				central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	36						c.(955-957)tgT>tgA		SCL/TAL1 interrupting locus							75	75	75					1																	47755173		2203	4300	6503	SO:0001587	stop_gained	6491				cell proliferation|multicellular organismal development	centrosome|cytosol		g.chr1:47755173A>T	M74558	CCDS548.1, CCDS41329.1, CCDS72785.1, CCDS72786.1	1p32	2010-02-09	2005-11-29	2005-11-29	ENSG00000123473	ENSG00000123473			10879	protein-coding gene	gene with protein product		181590	"TAL1 (SCL) interrupting locus"	SIL		2209547	Standard	NM_003035		Approved	MCPH7	uc001crd.1	Q15468	OTTHUMG00000007851	ENST00000360380.3:c.957T>A	1.37:g.47755173A>T	ENSP00000353544:p.Cys319*					STIL_ENST00000396221.2_Nonsense_Mutation_p.C319*|STIL_ENST00000243182.6_Nonsense_Mutation_p.C319*|STIL_ENST00000371877.3_Nonsense_Mutation_p.C319*|STIL_ENST00000337817.5_Nonsense_Mutation_p.C319*	p.C319*			Q15468	STIL_HUMAN			10	1320	-		Acute lymphoblastic leukemia(5;0.00116)|all_hematologic(5;0.00444)	319					Q5T0C5|Q68CN9	Nonsense_Mutation	SNP	ENST00000360380.3	37	c.957T>A	CCDS548.1	.	.	.	.	.	.	.	.	.	.	A	37	6.222840	0.97390	.	.	ENSG00000123473	ENST00000360380;ENST00000337817;ENST00000371877;ENST00000396221;ENST00000243182;ENST00000447475	.	.	.	5.69	0.378	0.16204	.	0.336296	0.37393	N	0.002113	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-2.5671	2.3682	0.04324	0.5144:0.1603:0.2216:0.1037	.	.	.	.	X	319;319;319;319;319;272	.	ENSP00000243182:C319X	C	-	3	2	STIL	47527760	0.039000	0.19947	0.991000	0.47740	0.996000	0.88848	0.228000	0.17814	0.433000	0.26313	0.477000	0.44152	TGT		0.353	STIL-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000021649.2	NM_003035		9	32	0	0	0	1	0	9	32					T	47755173	A	T	47755173	4	4	310	1	0	0	0	0	0	1	0	0	15281	157	6	5	2945	5	STIL	1	47755173	Nonsense_Mutation	SNP	A	TCGA-KK-A6DY-01A-12D-A30X-08	1227492	47755173	201495448	4	15944											
CHD1L	9557	broad.mit.edu	37	chr1	146714381	146714381	+	Frame_Shift_Del	DEL	G	G	-																															gcgcgggcgctactagccgcGggggccaagcgcctggcttc																										TCGA-KK-A6DY-01A-12D-A30X-08	TCGA-KK-A6DY-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18ee8074-9dce-4718-bedf-7f58f009bffb	0a005527-1b2e-4204-8474-df49da92cb18	g.chr1:146714381delG	ENST00000369258.4	+	1	48	c.28delG	c.(28-30)gggfs	p.G11fs	CHD1L_ENST00000431239.1_Frame_Shift_Del_p.G11fs|RP11-337C18.10_ENST00000606856.1_RNA|CHD1L_ENST00000467213.1_3'UTR|CHD1L_ENST00000369259.3_Frame_Shift_Del_p.G11fs|CHD1L_ENST00000361293.5_5'UTR	NM_001256336.1|NM_004284.4|NM_024568.2	NP_001243265.1|NP_004275.4|NP_078844.2	Q86WJ1	CHD1L_HUMAN	chromodomain helicase DNA binding protein 1-like	11					ATP catabolic process (GO:0006200)|cellular response to DNA damage stimulus (GO:0006974)|chromatin remodeling (GO:0006338)|DNA duplex unwinding (GO:0032508)|DNA repair (GO:0006281)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|nucleotide binding (GO:0000166)			breast(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(15)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33	all_hematologic(923;0.0487)					TACTAGCCGCGGGGGCCAAGC	0.741																																						ENST00000369258.4																			0				breast(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(15)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33						c.(28-30)ggfs		chromodomain helicase DNA binding protein 1-like							5	8	7					1																	146714381		1990	3978	5968	SO:0001589	frameshift_variant	9557				chromatin remodeling|DNA repair	cytoplasm|nucleus|plasma membrane	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding	g.chr1:146714381delG	AF054177	CCDS927.1, CCDS58021.1, CCDS58022.1, CCDS72882.1	1q21.1	2008-02-05			ENSG00000131778	ENSG00000131778			1916	protein-coding gene	gene with protein product		613039				9653160	Standard	NM_004284		Approved	ALC1	uc001epm.5	Q86WJ1	OTTHUMG00000150271	ENST00000369258.4:c.28delG	1.37:g.146714381delG	ENSP00000358262:p.Gly11fs					CHD1L_ENST00000467213.1_3'UTR|CHD1L_ENST00000431239.1_Frame_Shift_Del_p.G11fs|CHD1L_ENST00000361293.5_5'UTR|CHD1L_ENST00000369259.3_Frame_Shift_Del_p.G11fs	p.G11fs	NM_001256336.1|NM_004284.4|NM_024568.2	NP_001243265.1|NP_004275.4|NP_078844.2	Q86WJ1	CHD1L_HUMAN			1	48	+	all_hematologic(923;0.0487)		11					A5YM64|B4DDE1|B5MDZ7|Q53EZ3|Q5VXX7|Q6DD94|Q6PK83|Q86XH3|Q96HF7|Q96SP3|Q9BVJ1|Q9NVV8	Frame_Shift_Del	DEL	ENST00000369258.4	37	c.28delG	CCDS927.1																																																																																				0.741	CHD1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040377.1	NM_004284		6	11						6	11	---	---	---	---	-	146714381	G	-	146714381	7	5	310	1	0	1	0	1	0	0	0	0	3324	1116	39	0	30	0	CHD1L	1	146714381	Frame_Shift_Del	DEL	G	TCGA-KK-A6DY-01A-12D-A30X-08	98959208	146714381	102536240	5	15945											
FCRL4	83417	broad.mit.edu	37	chr1	157559034	157559034	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acagggttacttcgtggggaGccccgggcctggcatctgta	6	9	15	11	2	1	0	0	0	1	0	2	1	1	1	3	5	2	3	3	5	2	3			TCGA-KK-A6DY-01A-12D-A30X-08	TCGA-KK-A6DY-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18ee8074-9dce-4718-bedf-7f58f009bffb	0a005527-1b2e-4204-8474-df49da92cb18	g.chr1:157559034G>A	ENST00000271532.1	-	3	402	c.267C>T	c.(265-267)ggC>ggT	p.G89G	FCRL4_ENST00000448509.2_5'UTR	NM_031282.2	NP_112572.1	Q96PJ5	FCRL4_HUMAN	Fc receptor-like 4	89	Ig-like C2-type 1.				immune system process (GO:0002376)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.G89G(1)		breast(2)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(20)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	40	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.245)				TTCGTGGGGAGCCCCGGGCCT	0.498																																						ENST00000271532.1																			1	Substitution - coding silent(1)	p.G89G(1)	lung(1)	breast(2)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(20)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	40						c.(265-267)ggC>ggT		Fc receptor-like 4							77	81	79					1																	157559034		2203	4300	6503	SO:0001819	synonymous_variant	83417					integral to membrane|plasma membrane	receptor activity	g.chr1:157559034G>A	AF343661	CCDS1166.1	1q21	2013-01-14			ENSG00000163518	ENSG00000163518		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	18507	protein-coding gene	gene with protein product		605876				11290337, 11493702	Standard	NM_031282		Approved	FCRH4, IRTA1, IGFP2, CD307d	uc001fqw.3	Q96PJ5	OTTHUMG00000035488	ENST00000271532.1:c.267C>T	1.37:g.157559034G>A						FCRL4_ENST00000448509.2_5'UTR	p.G89G	NM_031282.2	NP_112572.1	Q96PJ5	FCRL4_HUMAN			3	402	-	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.245)	89			Ig-like C2-type 1.		Q96PJ3|Q96RE0	Silent	SNP	ENST00000271532.1	37	c.267C>T	CCDS1166.1																																																																																				0.498	FCRL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086180.1	NM_031282		5	81	0	0	0	1	0	5	81					A	157559034	G	A	157559034	2	1	310	1	0	0	0	0	0	0	0	1	5797	958	34	3		3	FCRL4	1	157559034	Silent	SNP	G	TCGA-KK-A6DY-01A-12D-A30X-08	10844653	157559034	91691587	6	15946											
BPNT1	10380	broad.mit.edu	37	chr1	220253161	220253161	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atatgcggaggctaccaaccGcatcaacacagtgttactgg	12	8	10	11	2	1	0	1	0	0	0	1	1	1	1	2	3	5	3	2	3	5	3			TCGA-KK-A6DY-01A-12D-A30X-08	TCGA-KK-A6DY-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18ee8074-9dce-4718-bedf-7f58f009bffb	0a005527-1b2e-4204-8474-df49da92cb18	g.chr1:220253161G>A	ENST00000469520.2	-	3	477	c.28C>T	c.(28-30)Cgg>Tgg	p.R10W	BPNT1_ENST00000322067.7_Missense_Mutation_p.R10W|BPNT1_ENST00000354807.3_Missense_Mutation_p.R10W|BPNT1_ENST00000482136.1_Intron|BPNT1_ENST00000414869.2_Missense_Mutation_p.R10W|BPNT1_ENST00000544404.1_Intron			O95861	BPNT1_HUMAN	3'(2'), 5'-bisphosphate nucleotidase 1	10					3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|dephosphorylation (GO:0016311)|nervous system development (GO:0007399)|nucleobase-containing compound metabolic process (GO:0006139)|phosphatidylinositol phosphorylation (GO:0046854)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	3'(2'),5'-bisphosphate nucleotidase activity (GO:0008441)|inositol-1,4-bisphosphate 1-phosphatase activity (GO:0004441)|magnesium ion binding (GO:0000287)			breast(1)|endometrium(1)|large_intestine(1)|lung(9)|ovary(1)|skin(1)	14				GBM - Glioblastoma multiforme(131;0.0558)		GCTACCAACCGCATCAACACA	0.398																																						ENST00000469520.2																			0				breast(1)|endometrium(1)|large_intestine(1)|lung(9)|ovary(1)|skin(1)	14						c.(28-30)Cgg>Tgg		3'(2'), 5'-bisphosphate nucleotidase 1							104	92	96					1																	220253161		1909	4115	6024	SO:0001583	missense	10380				3'-phosphoadenosine 5'-phosphosulfate metabolic process|nervous system development|xenobiotic metabolic process	cytosol	3'(2'),5'-bisphosphate nucleotidase activity	g.chr1:220253161G>A	AF125042	CCDS41469.1, CCDS65787.1, CCDS65788.1	1q42	2008-02-05			ENSG00000162813	ENSG00000162813	3.1.3.7		1096	protein-coding gene	gene with protein product		604053				10224133	Standard	XM_005272998		Approved		uc001hma.3	O95861	OTTHUMG00000037435	ENST00000469520.2:c.28C>T	1.37:g.220253161G>A	ENSP00000446828:p.Arg10Trp					BPNT1_ENST00000414869.2_Missense_Mutation_p.R10W|BPNT1_ENST00000354807.3_Missense_Mutation_p.R10W|BPNT1_ENST00000322067.7_Missense_Mutation_p.R10W|BPNT1_ENST00000482136.1_Intron|BPNT1_ENST00000544404.1_Intron	p.R10W			O95861	BPNT1_HUMAN		GBM - Glioblastoma multiforme(131;0.0558)	3	477	-			10					A8K7C8|B4DPS5|B4DUS9|D3DTA9|Q8WVL5|Q9UGJ3	Missense_Mutation	SNP	ENST00000469520.2	37	c.28C>T	CCDS41469.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.069779	0.76301	.	.	ENSG00000162813	ENST00000322067;ENST00000469520;ENST00000354807;ENST00000302686;ENST00000414869;ENST00000463953;ENST00000498791;ENST00000498237	D;D;D;D;D;D;D	0.83075	-1.68;-1.68;-1.68;-1.68;-1.68;-1.68;-1.68	5.51	5.51	0.81932	.	0.173879	0.51477	D	0.000097	D	0.92338	0.7569	M	0.91300	3.195	0.80722	D	1	D;D;D	0.89917	0.998;1.0;1.0	D;D;D	0.80764	0.968;0.989;0.994	D	0.93481	0.6827	10	0.87932	D	0	.	13.231	0.59943	0.0:0.0:0.8406:0.1593	.	10;10;10	B4DUS9;A6NF51;O95861	.;.;BPNT1_HUMAN	W	10	ENSP00000318852:R10W;ENSP00000446828:R10W;ENSP00000346862:R10W;ENSP00000410348:R10W;ENSP00000446953:R10W;ENSP00000446850:R10W;ENSP00000449883:R10W	ENSP00000307087:R10W	R	-	1	2	BPNT1	218319784	1.000000	0.71417	1.000000	0.80357	0.794000	0.44872	4.386000	0.59620	2.615000	0.88500	0.579000	0.79373	CGG		0.398	BPNT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091137.2	NM_006085		6	59	0	0	0	1	0	6	59					A	220253161	G	A	220253161	3	1	310	1	0	0	0	0	1	0	0	0	1494	1086	38	1	930	1	BPNT1	1	220253161	Missense_Mutation	SNP	G	TCGA-KK-A6DY-01A-12D-A30X-08	62694127	220253161	28997460	7	15947											
ITSN2	50618	broad.mit.edu	37	chr2	24432816	24432816	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aagaggaatccgtgcagttcCttgttgctcttggtcttgta	7	15	11	8	1	2	1	0	0	2	1	4	2	4	2	2	2	2	5	2	2	3	6			TCGA-KK-A6DY-01A-12D-A30X-08	TCGA-KK-A6DY-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18ee8074-9dce-4718-bedf-7f58f009bffb	0a005527-1b2e-4204-8474-df49da92cb18	g.chr2:24432816C>A	ENST00000355123.4	-	35	4787	c.4344G>T	c.(4342-4344)aaG>aaT	p.K1448N	ITSN2_ENST00000361999.3_Missense_Mutation_p.K1421N	NM_006277.2	NP_006268.2	Q9NZM3	ITSN2_HUMAN	intersectin 2	1448	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				endocytosis (GO:0006897)|positive regulation of signal transduction (GO:0009967)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|SH3/SH2 adaptor activity (GO:0005070)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(8)|large_intestine(11)|liver(3)|lung(28)|ovary(2)|stomach(1)	61	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CGTGCAGTTCCTTGTTGCTCT	0.453																																						ENST00000355123.4																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(8)|large_intestine(11)|liver(3)|lung(28)|ovary(2)|stomach(1)	61						c.(4342-4344)aaG>aaT		intersectin 2							197	183	187					2																	24432816		2203	4300	6503	SO:0001583	missense	50618				endocytosis|regulation of Rho protein signal transduction	cytoplasm	calcium ion binding|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity	g.chr2:24432816C>A	AB033082	CCDS1710.2, CCDS1711.2, CCDS46230.1	2p23.3	2013-09-19	2002-10-30		ENSG00000198399	ENSG00000198399		"Rho guanine nucleotide exchange factors", "EF-hand domain containing"	6184	protein-coding gene	gene with protein product	"SH3 domain protein 1B", "SH3P18-like WASP associated protein"	604464	"SH3 domain protein 1B"	SH3D1B		10922467, 11748279	Standard	NM_006277		Approved	KIAA1256, SWAP, SH3P18, SWA, PRO2015	uc002rfe.2	Q9NZM3	OTTHUMG00000090818	ENST00000355123.4:c.4344G>T	2.37:g.24432816C>A	ENSP00000347244:p.Lys1448Asn					ITSN2_ENST00000361999.3_Missense_Mutation_p.K1421N	p.K1448N	NM_006277.2	NP_006268.2	Q9NZM3	ITSN2_HUMAN			35	4787	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		1448			PH.		O95062|Q15812|Q9HAK4|Q9NXE6|Q9NYG0|Q9NZM2|Q9ULG4	Missense_Mutation	SNP	ENST00000355123.4	37	c.4344G>T	CCDS1710.2	.	.	.	.	.	.	.	.	.	.	C	15.16	2.750865	0.49257	.	.	ENSG00000198399	ENST00000361999;ENST00000355123;ENST00000380868	T;T;T	0.50001	0.76;0.76;0.76	4.26	3.36	0.38483	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	0.000000	0.36665	U	0.002472	T	0.61173	0.2326	M	0.83012	2.62	0.48571	D	0.999671	D;D	0.64830	0.994;0.99	P;P	0.55749	0.783;0.612	T	0.67413	-0.5677	10	0.87932	D	0	.	9.4607	0.38783	0.0:0.833:0.0:0.167	.	1421;1448	Q9NZM3-2;Q9NZM3	.;ITSN2_HUMAN	N	1421;1448;1421	ENSP00000354561:K1421N;ENSP00000347244:K1448N;ENSP00000370250:K1421N	ENSP00000347244:K1448N	K	-	3	2	ITSN2	24286320	1.000000	0.71417	0.998000	0.56505	0.971000	0.66376	1.984000	0.40658	2.102000	0.63906	0.455000	0.32223	AAG		0.453	ITSN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207620.2	NM_006277		4	192	1	0	0.00909568	1	0.0093939	4	192					A	24432816	C	A	24432816	3	1	310	1	0	0	0	0	1	0	0	0	7927	680	24	5	773	5	ITSN2	2	24432816	Missense_Mutation	SNP	C	TCGA-KK-A6DY-01A-12D-A30X-08		24432816	218766557	8	15948											
NRXN1	9378	broad.mit.edu	37	chr2	50765580	50765580	+	Frame_Shift_Del	DEL	G	G	-																															ttgccggatatctttgctttGgccatcgatgaacaaatccc																										TCGA-KK-A6DY-01A-12D-A30X-08	TCGA-KK-A6DY-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18ee8074-9dce-4718-bedf-7f58f009bffb	0a005527-1b2e-4204-8474-df49da92cb18	g.chr2:50765580delG	ENST00000406316.2	-	10	3430	c.1954delC	c.(1954-1956)caafs	p.Q652fs	NRXN1_ENST00000402717.3_Frame_Shift_Del_p.Q644fs|NRXN1_ENST00000331040.5_5'UTR|NRXN1_ENST00000405472.3_Frame_Shift_Del_p.Q644fs|NRXN1_ENST00000404971.1_Frame_Shift_Del_p.Q692fs|NRXN1_ENST00000406859.3_Frame_Shift_Del_p.Q652fs|NRXN1_ENST00000401669.2_Frame_Shift_Del_p.Q652fs	NM_004801.4	NP_004792.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	652	Laminin G-like 3. {ECO:0000255|PROSITE- ProRule:PRU00122}.				adult behavior (GO:0030534)|axon guidance (GO:0007411)|calcium-dependent cell-cell adhesion (GO:0016339)|cerebellar granule cell differentiation (GO:0021707)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|gamma-aminobutyric acid receptor clustering (GO:0097112)|gephyrin clustering (GO:0097116)|guanylate kinase-associated protein clustering (GO:0097117)|heterophilic cell-cell adhesion (GO:0007157)|learning (GO:0007612)|N-methyl-D-aspartate receptor clustering (GO:0097114)|negative regulation of filopodium assembly (GO:0051490)|neuroligin clustering (GO:0097118)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|neuron maturation (GO:0042551)|neurotransmitter secretion (GO:0007269)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|receptor localization to synapse (GO:0097120)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic vesicle clustering (GO:0097091)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	axonal growth cone (GO:0044295)|cell junction (GO:0030054)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	acetylcholine receptor binding (GO:0033130)|calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|cell adhesion molecule binding (GO:0050839)|neuroligin family protein binding (GO:0097109)|receptor activity (GO:0004872)	p.Q693K(2)|p.Q652K(2)|p.Q692K(2)		breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			TCTTTGCTTTGGCCATCGATG	0.507																																						ENST00000404971.1																			6	Substitution - Missense(6)	p.Q693K(2)|p.Q652K(2)|p.Q692K(2)	lung(6)	breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58						c.(2074-2076)aafs		neurexin 1							224	236	232					2																	50765580		2197	4300	6497	SO:0001589	frameshift_variant	9378				adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity	g.chr2:50765580delG	AB011150	CCDS1845.1, CCDS46282.1, CCDS54360.1	2p16.3	2008-05-15			ENSG00000179915	ENSG00000179915			8008	protein-coding gene	gene with protein product		600565					Standard	NM_001135659		Approved	KIAA0578, Hs.22998	uc021vhj.1	P58400	OTTHUMG00000129263	ENST00000406316.2:c.1954delC	2.37:g.50765580delG	ENSP00000384311:p.Gln652fs					NRXN1_ENST00000402717.3_Frame_Shift_Del_p.Q644fs|NRXN1_ENST00000331040.5_5'UTR|NRXN1_ENST00000405472.3_Frame_Shift_Del_p.Q644fs|NRXN1_ENST00000401669.2_Frame_Shift_Del_p.Q652fs|NRXN1_ENST00000406859.3_Frame_Shift_Del_p.Q652fs|NRXN1_ENST00000406316.2_Frame_Shift_Del_p.Q652fs	p.Q692fs	NM_001135659.1	NP_001129131.1	Q9ULB1	NRX1A_HUMAN	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)		11	3413	-		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	652			EGF-like 2.		A7KRL9|O60323|Q53TJ9|Q53TQ1|Q9C079|Q9C080|Q9C081|Q9H3M2|Q9UDM6	Frame_Shift_Del	DEL	ENST00000406316.2	37	c.2074delC	CCDS54360.1																																																																																				0.507	NRXN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000325291.2			32	338						32	338	---	---	---	---	-	50765580	G	-	50765580	7	5	310	1	0	1	0	1	0	0	0	0	10665	1357	47	0	2888	0	NRXN1	2	50765580	Frame_Shift_Del	DEL	G	TCGA-KK-A6DY-01A-12D-A30X-08	26332764	50765580	192433793	9	15949											
CTNNB1	1499	broad.mit.edu	37	chr3	41268787	41268787	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	actactgtggaccacaagcaGagtgctgaaggtgctatctg	11	9	12	9	0	1	2	0	1	1	1	1	3	1	3	1	2	4	3	1	2	4	2			TCGA-KK-A6DY-01A-12D-A30X-08	TCGA-KK-A6DY-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18ee8074-9dce-4718-bedf-7f58f009bffb	0a005527-1b2e-4204-8474-df49da92cb18	g.chr3:41268787G>A	ENST00000349496.5	+	7	1305	c.1025G>A	c.(1024-1026)aGa>aAa	p.R342K	CTNNB1_ENST00000405570.1_Missense_Mutation_p.R342K|CTNNB1_ENST00000396185.3_Missense_Mutation_p.R342K|CTNNB1_ENST00000453024.1_Missense_Mutation_p.R335K|CTNNB1_ENST00000396183.3_Missense_Mutation_p.R342K	NM_001904.3	NP_001895.1	P35222	CTNB1_HUMAN	catenin (cadherin-associated protein), beta 1, 88kDa	342					adherens junction assembly (GO:0034333)|androgen receptor signaling pathway (GO:0030521)|anterior/posterior axis specification (GO:0009948)|apoptotic process (GO:0006915)|bone resorption (GO:0045453)|branching involved in ureteric bud morphogenesis (GO:0001658)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|canonical Wnt signaling pathway involved in positive regulation of cardiac outflow tract cell proliferation (GO:0061324)|canonical Wnt signaling pathway involved in positive regulation of epithelial to mesenchymal transition (GO:0044334)|cell adhesion (GO:0007155)|cell fate specification (GO:0001708)|cell maturation (GO:0048469)|cell-matrix adhesion (GO:0007160)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to growth factor stimulus (GO:0071363)|cellular response to indole-3-methanol (GO:0071681)|cellular response to mechanical stimulus (GO:0071260)|central nervous system vasculogenesis (GO:0022009)|cytoskeletal anchoring at plasma membrane (GO:0007016)|determination of dorsal/ventral asymmetry (GO:0048262)|dorsal/ventral axis specification (GO:0009950)|ectoderm development (GO:0007398)|embryonic axis specification (GO:0000578)|embryonic digit morphogenesis (GO:0042733)|embryonic foregut morphogenesis (GO:0048617)|embryonic forelimb morphogenesis (GO:0035115)|embryonic heart tube development (GO:0035050)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal limb joint morphogenesis (GO:0036023)|endodermal cell fate commitment (GO:0001711)|endothelial tube morphogenesis (GO:0061154)|epithelial cell differentiation involved in prostate gland development (GO:0060742)|epithelial to mesenchymal transition (GO:0001837)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|fungiform papilla formation (GO:0061198)|gastrulation with mouth forming second (GO:0001702)|genitalia morphogenesis (GO:0035112)|glial cell fate determination (GO:0007403)|hair cell differentiation (GO:0035315)|hair follicle morphogenesis (GO:0031069)|hair follicle placode formation (GO:0060789)|hindbrain development (GO:0030902)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|layer formation in cerebral cortex (GO:0021819)|lens morphogenesis in camera-type eye (GO:0002089)|liver development (GO:0001889)|lung cell differentiation (GO:0060479)|lung induction (GO:0060492)|lung-associated mesenchyme development (GO:0060484)|male genitalia development (GO:0030539)|mesenchymal cell proliferation involved in lung development (GO:0060916)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|midgut development (GO:0007494)|muscle cell differentiation (GO:0042692)|myoblast differentiation (GO:0045445)|negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of heart induction by canonical Wnt signaling pathway (GO:0003136)|negative regulation of neuron death (GO:1901215)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein sumoylation (GO:0033234)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nephron tubule formation (GO:0072079)|neural plate development (GO:0001840)|neuron migration (GO:0001764)|odontogenesis of dentin-containing tooth (GO:0042475)|oocyte development (GO:0048599)|osteoclast differentiation (GO:0030316)|oviduct development (GO:0060066)|pancreas development (GO:0031016)|patterning of blood vessels (GO:0001569)|positive regulation of apoptotic process (GO:0043065)|positive regulation of branching involved in lung morphogenesis (GO:0061047)|positive regulation of determination of dorsal identity (GO:2000017)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of epithelial cell proliferation involved in prostate gland development (GO:0060769)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of fibroblast growth factor receptor signaling pathway (GO:0045743)|positive regulation of heparan sulfate proteoglycan biosynthetic process (GO:0010909)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein heterooligomerization (GO:0051291)|protein localization to cell surface (GO:0034394)|proximal/distal pattern formation (GO:0009954)|regulation of angiogenesis (GO:0045765)|regulation of calcium ion import (GO:0090279)|regulation of centriole-centriole cohesion (GO:0030997)|regulation of centromeric sister chromatid cohesion (GO:0070602)|regulation of fibroblast proliferation (GO:0048145)|regulation of myelination (GO:0031641)|regulation of nephron tubule epithelial cell differentiation (GO:0072182)|regulation of protein localization to cell surface (GO:2000008)|regulation of secondary heart field cardioblast proliferation (GO:0003266)|regulation of smooth muscle cell proliferation (GO:0048660)|regulation of T cell proliferation (GO:0042129)|renal inner medulla development (GO:0072053)|renal outer medulla development (GO:0072054)|renal vesicle formation (GO:0072033)|response to cadmium ion (GO:0046686)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|Schwann cell proliferation (GO:0014010)|single organismal cell-cell adhesion (GO:0016337)|smooth muscle cell differentiation (GO:0051145)|synapse organization (GO:0050808)|synaptic vesicle transport (GO:0048489)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tongue morphogenesis (GO:0043587)|trachea formation (GO:0060440)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	adherens junction (GO:0005912)|apical part of cell (GO:0045177)|basolateral plasma membrane (GO:0016323)|beta-catenin destruction complex (GO:0030877)|beta-catenin-TCF7L2 complex (GO:0070369)|catenin complex (GO:0016342)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cell periphery (GO:0071944)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|membrane (GO:0016020)|microvillus membrane (GO:0031528)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein-DNA complex (GO:0032993)|Scrib-APC-beta-catenin complex (GO:0034750)|synapse (GO:0045202)|tight junction (GO:0005923)|transcription factor complex (GO:0005667)|Z disc (GO:0030018)|zonula adherens (GO:0005915)	alpha-catenin binding (GO:0045294)|androgen receptor binding (GO:0050681)|cadherin binding (GO:0045296)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|estrogen receptor binding (GO:0030331)|I-SMAD binding (GO:0070411)|ion channel binding (GO:0044325)|kinase binding (GO:0019900)|nuclear hormone receptor binding (GO:0035257)|protein C-terminus binding (GO:0008022)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|R-SMAD binding (GO:0070412)|RNA polymerase II activating transcription factor binding (GO:0001102)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|SMAD binding (GO:0046332)|structural molecule activity (GO:0005198)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)		CTNNB1/PLAG1(60)	NS(4)|adrenal_gland(103)|biliary_tract(43)|bone(21)|breast(7)|central_nervous_system(260)|cervix(9)|endometrium(293)|eye(1)|haematopoietic_and_lymphoid_tissue(60)|kidney(202)|large_intestine(269)|liver(1010)|lung(63)|oesophagus(6)|ovary(106)|pancreas(126)|parathyroid(11)|pituitary(111)|pleura(2)|prostate(31)|salivary_gland(13)|skin(103)|small_intestine(17)|soft_tissue(792)|stomach(165)|thyroid(55)|upper_aerodigestive_tract(2)|urinary_tract(8)	3893				KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294)		ACCACAAGCAGAGTGCTGAAG	0.408		15	"H, Mis, T"	PLAG1	"colorectal, cvarian,  hepatoblastoma, others, pleomorphic salivary adenoma"				Pilomatrixoma, Familial Clustering of																												Colon(6;3 56 14213 18255)	ENST00000349496.5		15		Dom	yes		3	3p22-p21.3	1499	"H, Mis, T"	"catenin (cadherin-associated protein), beta 1"			"E, M, O"	PLAG1		"colorectal, cvarian,  hepatoblastoma, others, pleomorphic salivary adenoma"	CTNNB1/PLAG1(60)	0				NS(4)|adrenal_gland(103)|biliary_tract(43)|bone(21)|breast(7)|central_nervous_system(260)|cervix(9)|endometrium(293)|eye(1)|haematopoietic_and_lymphoid_tissue(60)|kidney(202)|large_intestine(269)|liver(1010)|lung(63)|oesophagus(6)|ovary(106)|pancreas(126)|parathyroid(11)|pituitary(111)|pleura(2)|prostate(31)|salivary_gland(13)|skin(103)|small_intestine(17)|soft_tissue(792)|stomach(165)|thyroid(55)|upper_aerodigestive_tract(2)|urinary_tract(8)	3893						c.(1024-1026)aGa>aAa		catenin (cadherin-associated protein), beta 1, 88kDa	Lithium(DB01356)						119	114	116					3																	41268787		2203	4300	6503	SO:0001583	missense	1499	Pilomatrixoma, Familial Clustering of	Familial Cancer Database	Pilomatricoma, Familial Clustering of, Epithelioma Calcificans of Malherbe	adherens junction assembly|androgen receptor signaling pathway|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway involved in negative regulation of apoptosis|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell-cell adhesion|cell-matrix adhesion|cellular component disassembly involved in apoptosis|cellular response to growth factor stimulus|cellular response to indole-3-methanol|central nervous system vasculogenesis|cytoskeletal anchoring at plasma membrane|determination of dorsal/ventral asymmetry|dorsal/ventral axis specification|ectoderm development|embryonic axis specification|embryonic foregut morphogenesis|embryonic leg joint morphogenesis|endodermal cell fate commitment|endothelial tube morphogenesis|epithelial to mesenchymal transition|gastrulation with mouth forming second|glial cell fate determination|hair follicle morphogenesis|hair follicle placode formation|hindbrain development|liver development|lung cell differentiation|lung induction|lung-associated mesenchyme development|male genitalia development|mesenchymal cell proliferation involved in lung development|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of osteoclast differentiation|negative regulation of transcription from RNA polymerase II promoter|nephron tubule formation|odontogenesis of dentine-containing tooth|oocyte development|pancreas development|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of branching involved in lung morphogenesis|positive regulation of epithelial cell proliferation involved in prostate gland development|positive regulation of fibroblast growth factor receptor signaling pathway|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of muscle cell differentiation|positive regulation of osteoblast differentiation|positive regulation of transcription from RNA polymerase II promoter|protein localization at cell surface|proximal/distal pattern formation|regulation of angiogenesis|regulation of calcium ion import|regulation of centriole-centriole cohesion|regulation of centromeric sister chromatid cohesion|regulation of fibroblast proliferation|regulation of nephron tubule epithelial cell differentiation|regulation of protein localization at cell surface|regulation of smooth muscle cell proliferation|regulation of T cell proliferation|renal inner medulla development|renal outer medulla development|renal vesicle formation|response to drug|response to estradiol stimulus|Schwann cell proliferation|smooth muscle cell differentiation|synapse organization|synaptic vesicle transport|T cell differentiation in thymus|thymus development|trachea formation	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin-TCF7L2 complex|catenin complex|cell cortex|cell-substrate adherens junction|centrosome|dendritic shaft|desmosome|fascia adherens|internal side of plasma membrane|lamellipodium|lateral plasma membrane|microvillus membrane|perinuclear region of cytoplasm|protein-DNA complex|synapse|transcription factor complex|Z disc|zonula adherens	alpha-catenin binding|androgen receptor binding|cadherin binding|estrogen receptor binding|I-SMAD binding|ion channel binding|protein binding|protein C-terminus binding|protein kinase binding|protein phosphatase binding|R-SMAD binding|RPTP-like protein binding|signal transducer activity|specific RNA polymerase II transcription factor activity|structural molecule activity|transcription coactivator activity|transcription regulatory region DNA binding	g.chr3:41268787G>A	X87838	CCDS2694.1	3p21	2013-02-15	2002-08-29		ENSG00000168036	ENSG00000168036		"Armadillo repeat containing"	2514	protein-coding gene	gene with protein product		116806	"catenin (cadherin-associated protein), beta 1 (88kD)"	CTNNB		7829088	Standard	NM_001098210		Approved	beta-catenin, armadillo	uc003ckr.2	P35222	OTTHUMG00000131393	ENST00000349496.5:c.1025G>A	3.37:g.41268787G>A	ENSP00000344456:p.Arg342Lys					CTNNB1_ENST00000405570.1_Missense_Mutation_p.R342K|CTNNB1_ENST00000396183.3_Missense_Mutation_p.R342K|CTNNB1_ENST00000453024.1_Missense_Mutation_p.R335K|CTNNB1_ENST00000396185.3_Missense_Mutation_p.R342K	p.R342K	NM_001904.3	NP_001895.1	P35222	CTNB1_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294)	7	1305	+			342					A8K1L7|Q8NEW9|Q8NI94|Q9H391	Missense_Mutation	SNP	ENST00000349496.5	37	c.1025G>A	CCDS2694.1	.	.	.	.	.	.	.	.	.	.	G	36	5.883962	0.97062	.	.	ENSG00000168036	ENST00000405570;ENST00000396183;ENST00000349496;ENST00000453024;ENST00000396185	T;T;T;T;T	0.01347	4.99;4.99;4.99;4.99;4.99	5.5	5.5	0.81552	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.08268	0.0206	M	0.76574	2.34	0.80722	D	1	P;D	0.63046	0.685;0.992	P;D	0.65443	0.716;0.935	T	0.21518	-1.0243	10	0.33940	T	0.23	-5.126	19.382	0.94540	0.0:0.0:1.0:0.0	.	270;342	B4DSW9;P35222	.;CTNB1_HUMAN	K	342;342;342;335;342	ENSP00000385604:R342K;ENSP00000379486:R342K;ENSP00000344456:R342K;ENSP00000411226:R335K;ENSP00000379488:R342K	ENSP00000344456:R342K	R	+	2	0	CTNNB1	41243791	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.591000	0.87537	0.591000	0.81541	AGA		0.408	CTNNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254182.2	NM_001098210		9	70	0	0	0	1	0	9	70					A	41268787	G	A	41268787	3	1	310	1	0	0	0	0	1	0	0	0	4016	942	33	3	1047	3	CTNNB1	3	41268787	Missense_Mutation	SNP	G	TCGA-KK-A6DY-01A-12D-A30X-08		41268787	156753643	10	15950											
SFMBT1	51460	broad.mit.edu	37	chr3	52939178	52939178	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggcaaactgctcataaaaagCaaacttgatcctctctatgt	14	11	6	10	0	2	1	1	1	1	0	4	1	3	1	1	1	4	3	1	1	6	3			TCGA-KK-A6DY-01A-12D-A30X-08	TCGA-KK-A6DY-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18ee8074-9dce-4718-bedf-7f58f009bffb	0a005527-1b2e-4204-8474-df49da92cb18	g.chr3:52939178C>T	ENST00000394752.3	-	21	2957	c.2575G>A	c.(2575-2577)Gct>Act	p.A859T	SFMBT1_ENST00000296295.6_Missense_Mutation_p.A816T|SFMBT1_ENST00000358080.2_Missense_Mutation_p.A859T|SFMBT1_ENST00000394750.1_Missense_Mutation_p.A859T	NM_016329.3	NP_057413.2	Q9UHJ3	SMBT1_HUMAN	Scm-like with four mbt domains 1	859	SAM.				cell differentiation (GO:0030154)|chromatin modification (GO:0016568)|negative regulation of muscle organ development (GO:0048635)|negative regulation of transcription, DNA-templated (GO:0045892)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	histone binding (GO:0042393)|transcription corepressor activity (GO:0003714)			breast(2)|endometrium(3)|kidney(3)|large_intestine(8)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	24				BRCA - Breast invasive adenocarcinoma(193;9.91e-05)|Kidney(197;0.000644)|KIRC - Kidney renal clear cell carcinoma(197;0.000792)|OV - Ovarian serous cystadenocarcinoma(275;0.113)		TCATAAAAAGCAAACTTGATC	0.453																																						ENST00000394752.3																			0				breast(2)|endometrium(3)|kidney(3)|large_intestine(8)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	24						c.(2575-2577)Gct>Act		Scm-like with four mbt domains 1							123	111	115					3																	52939178		2203	4300	6503	SO:0001583	missense	51460				regulation of transcription, DNA-dependent	nucleus		g.chr3:52939178C>T	AF168132	CCDS2867.1	3p21.31	2013-01-10			ENSG00000163935	ENSG00000163935		"Sterile alpha motif (SAM) domain containing"	20255	protein-coding gene	gene with protein product		607319				10661410	Standard	NM_016329		Approved	RU1, DKFZp434L243, SFMBT	uc003dgh.3	Q9UHJ3	OTTHUMG00000159052	ENST00000394752.3:c.2575G>A	3.37:g.52939178C>T	ENSP00000378235:p.Ala859Thr					SFMBT1_ENST00000358080.2_Missense_Mutation_p.A859T|SFMBT1_ENST00000394750.1_Missense_Mutation_p.A859T|SFMBT1_ENST00000296295.6_Missense_Mutation_p.A816T	p.A859T	NM_016329.3	NP_057413.2	Q9UHJ3	SMBT1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;9.91e-05)|Kidney(197;0.000644)|KIRC - Kidney renal clear cell carcinoma(197;0.000792)|OV - Ovarian serous cystadenocarcinoma(275;0.113)	21	2957	-			859			SAM.		Q402F7|Q96C73|Q9Y4Q9	Missense_Mutation	SNP	ENST00000394752.3	37	c.2575G>A	CCDS2867.1	.	.	.	.	.	.	.	.	.	.	C	27.7	4.853024	0.91355	.	.	ENSG00000163935	ENST00000394752;ENST00000358080;ENST00000296295;ENST00000394750	T;T;T;T	0.28895	1.59;1.59;1.59;1.59	6.16	6.16	0.99307	Sterile alpha motif domain (1);Sterile alpha motif/pointed domain (2);	0.000000	0.85682	D	0.000000	T	0.56277	0.1974	L	0.59912	1.85	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.996	T	0.51725	-0.8669	10	0.72032	D	0.01	.	20.8598	0.99761	0.0:1.0:0.0:0.0	.	816;859	Q9UHJ3-2;Q9UHJ3	.;SMBT1_HUMAN	T	859;859;816;859	ENSP00000378235:A859T;ENSP00000350789:A859T;ENSP00000296295:A816T;ENSP00000378233:A859T	ENSP00000296295:A816T	A	-	1	0	SFMBT1	52914218	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.818000	0.86416	2.937000	0.99478	0.650000	0.86243	GCT		0.453	SFMBT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353040.3	NM_016329		11	52	0	0	0	1	0	11	52					T	52939178	C	T	52939178	3	4	310	1	0	0	0	0	1	0	0	0	14157	710	25	3	29	3	SFMBT1	3	52939178	Missense_Mutation	SNP	C	TCGA-KK-A6DY-01A-12D-A30X-08	11670391	52939178	145083252	11	15951											
GPR87	53836	broad.mit.edu	37	chr3	151012973	151012973	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctcctgttgcctgaattgtGactctcttggccgtgcagct	4	14	11	12	1	1	2	0	2	1	0	3	2	2	2	3	1	3	4	3	1	1	3			TCGA-KK-A6DY-01A-12D-A30X-08	TCGA-KK-A6DY-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18ee8074-9dce-4718-bedf-7f58f009bffb	0a005527-1b2e-4204-8474-df49da92cb18	g.chr3:151012973G>T	ENST00000260843.4	-	3	525	c.61C>A	c.(61-63)Cac>Aac	p.H21N	MED12L_ENST00000491549.1_Intron|MED12L_ENST00000273432.4_Intron|MED12L_ENST00000474524.1_Intron	NM_023915.3	NP_076404.3	Q9BY21	GPR87_HUMAN	G protein-coupled receptor 87	21					negative regulation of adenylate cyclase activity (GO:0007194)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled purinergic nucleotide receptor activity (GO:0045028)			endometrium(6)|large_intestine(6)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	19			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			CCTGAATTGTGACTCTCTTGG	0.488																																						ENST00000260843.4																			0				endometrium(6)|large_intestine(6)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	19						c.(61-63)Cac>Aac		G protein-coupled receptor 87							73	71	71					3																	151012973		2203	4300	6503	SO:0001583	missense	0					integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	g.chr3:151012973G>T	AF237763	CCDS3157.1	3q24	2012-08-21			ENSG00000138271	ENSG00000138271		"GPCR / Class A : Orphans"	4538	protein-coding gene	gene with protein product		606379		GPR95		11273702	Standard	NM_023915		Approved		uc003eyt.2	Q9BY21	OTTHUMG00000159858	ENST00000260843.4:c.61C>A	3.37:g.151012973G>T	ENSP00000260843:p.His21Asn					MED12L_ENST00000273432.4_Intron|MED12L_ENST00000474524.1_Intron|MED12L_ENST00000491549.1_Intron	p.H21N	NM_023915.3	NP_076404.3	Q9BY21	GPR87_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)		3	525	-			21					Q5KU35|Q96JZ8|Q9BXC2	Missense_Mutation	SNP	ENST00000260843.4	37	c.61C>A	CCDS3157.1	.	.	.	.	.	.	.	.	.	.	G	9.933	1.215422	0.22373	.	.	ENSG00000138271	ENST00000260843	T	0.60672	0.17	5.31	3.48	0.39840	.	1.536280	0.03392	N	0.202011	T	0.42404	0.1201	N	0.14661	0.345	0.09310	N	1	B	0.06786	0.001	B	0.09377	0.004	T	0.23691	-1.0181	10	0.27785	T	0.31	-0.7584	7.8688	0.29554	0.1565:0.1353:0.7083:0.0	.	21	Q9BY21	GPR87_HUMAN	N	21	ENSP00000260843:H21N	ENSP00000260843:H21N	H	-	1	0	GPR87	152495663	0.000000	0.05858	0.002000	0.10522	0.016000	0.09150	0.344000	0.19962	1.362000	0.46000	0.655000	0.94253	CAC		0.488	GPR87-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357788.1			15	64	1	0	0.00316338	1	0.00332155	15	64					T	151012973	G	T	151012973	3	4	310	1	0	0	0	0	1	0	0	0	6716	1290	45	5	1019	5	GPR87	3	151012973	Missense_Mutation	SNP	G	TCGA-KK-A6DY-01A-12D-A30X-08	98073795	151012973	47009457	12	15952											
FGFRL1	53834	broad.mit.edu	37	chr4	1016153	1016153	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gagccgcttccgcgtgctgcCgcaggggctgaaggtgaagc	6	6	17	12	4	0	2	0	2	0	0	1	3	1	2	3	3	4	4	3	3	2	1			TCGA-KK-A6DY-01A-12D-A30X-08	TCGA-KK-A6DY-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18ee8074-9dce-4718-bedf-7f58f009bffb	0a005527-1b2e-4204-8474-df49da92cb18	g.chr4:1016153C>T	ENST00000398484.2	+	4	822	c.242C>T	c.(241-243)cCg>cTg	p.P81L	FGFRL1_ENST00000264748.6_Missense_Mutation_p.P81L|FGFRL1_ENST00000504138.1_Missense_Mutation_p.P81L|FGFRL1_ENST00000510644.1_Missense_Mutation_p.P81L			Q8N441	FGRL1_HUMAN	fibroblast growth factor receptor-like 1	81	Ig-like C2-type 1.				diaphragm development (GO:0060539)|heart valve morphogenesis (GO:0003179)|negative regulation of cell proliferation (GO:0008285)|skeletal system development (GO:0001501)|ventricular septum morphogenesis (GO:0060412)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	fibroblast growth factor-activated receptor activity (GO:0005007)|heparin binding (GO:0008201)			endometrium(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	13			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			CGCGTGCTGCCGCAGGGGCTG	0.687																																						ENST00000398484.2																			0				endometrium(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	13						c.(241-243)cCg>cTg		fibroblast growth factor receptor-like 1							35	32	33					4																	1016153		2195	4294	6489	SO:0001583	missense	53834				regulation of cell growth	integral to membrane|plasma membrane	fibroblast growth factor receptor activity|heparin binding	g.chr4:1016153C>T		CCDS3344.1	4p16	2013-01-11			ENSG00000127418	ENSG00000127418		"Immunoglobulin superfamily / I-set domain containing"	3693	protein-coding gene	gene with protein product		605830					Standard	NM_021923		Approved		uc003gcg.3	Q8N441	OTTHUMG00000118998	ENST00000398484.2:c.242C>T	4.37:g.1016153C>T	ENSP00000381498:p.Pro81Leu					FGFRL1_ENST00000264748.6_Missense_Mutation_p.P81L|FGFRL1_ENST00000504138.1_Missense_Mutation_p.P81L|FGFRL1_ENST00000510644.1_Missense_Mutation_p.P81L	p.P81L			Q8N441	FGRL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.0158)		4	822	+			81			Ig-like C2-type 1.		B2RAU9|Q6PJN1|Q9BXN7|Q9H4D7	Missense_Mutation	SNP	ENST00000398484.2	37	c.242C>T	CCDS3344.1	.	.	.	.	.	.	.	.	.	.	c	10.98	1.504717	0.26949	.	.	ENSG00000127418	ENST00000398484;ENST00000542622;ENST00000510644;ENST00000504138;ENST00000507339;ENST00000264748	T;T;T;T;T	0.66099	-0.19;-0.19;-0.19;-0.19;-0.19	4.62	4.62	0.57501	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.141281	0.50627	D	0.000113	T	0.53932	0.1827	L	0.58583	1.82	0.43673	D	0.996108	P	0.42871	0.792	B	0.37047	0.24	T	0.56805	-0.7918	10	0.38643	T	0.18	-25.4316	10.3474	0.43913	0.3115:0.6885:0.0:0.0	.	81	Q8N441	FGRL1_HUMAN	L	81;51;81;81;81;81	ENSP00000381498:P81L;ENSP00000425025:P81L;ENSP00000423091:P81L;ENSP00000424037:P81L;ENSP00000264748:P81L	ENSP00000264748:P81L	P	+	2	0	FGFRL1	1006153	0.537000	0.26386	0.999000	0.59377	0.205000	0.24178	0.937000	0.28951	2.109000	0.64355	0.457000	0.33378	CCG		0.687	FGFRL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239195.2	NM_021923		7	22	0	0	0	1	0	7	22					T	1016153	C	T	1016153	3	4	310	1	0	0	0	0	1	0	0	0	5869	652	23	2	248	2	FGFRL1	4	1016153	Missense_Mutation	SNP	C	TCGA-KK-A6DY-01A-12D-A30X-08		1016153	190138123	13	15953											
SH3D19	152503	broad.mit.edu	37	chr4	152048836	152048836	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gctttggccttcctccccttCggtactatggccaacatact	6	13	7	15	1	0	0	0	0	0	0	3	0	2	0	5	3	3	2	5	3	4	6			TCGA-KK-A6DY-01A-12D-A30X-08	TCGA-KK-A6DY-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18ee8074-9dce-4718-bedf-7f58f009bffb	0a005527-1b2e-4204-8474-df49da92cb18	g.chr4:152048836C>T	ENST00000409252.2	-	19	2897	c.2190G>A	c.(2188-2190)ccG>ccA	p.P730P	SH3D19_ENST00000427414.2_Silent_p.P671P|SH3D19_ENST00000424281.1_Silent_p.P671P|SH3D19_ENST00000409598.4_Silent_p.P707P|SH3D19_ENST00000514152.1_Silent_p.P707P|SH3D19_ENST00000455740.1_Silent_p.P707P|SH3D19_ENST00000304527.4_Silent_p.P730P			Q5HYK7	SH319_HUMAN	SH3 domain containing 19	730	SH3 5. {ECO:0000255|PROSITE- ProRule:PRU00192}.				cytoskeleton organization (GO:0007010)|membrane organization (GO:0061024)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of cell morphogenesis (GO:0022604)	cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	proline-rich region binding (GO:0070064)			autonomic_ganglia(1)|endometrium(1)|large_intestine(3)|lung(10)|ovary(1)|skin(3)|urinary_tract(1)	20	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.138)				TCCTCCCCTTCGGTACTATGG	0.363																																						ENST00000409598.4																			0				autonomic_ganglia(1)|endometrium(1)|large_intestine(3)|lung(10)|ovary(1)|skin(3)|urinary_tract(1)	20						c.(2119-2121)ccG>ccA		SH3 domain containing 19							81	72	75					4																	152048836		2203	4300	6503	SO:0001819	synonymous_variant	152503				cellular membrane organization|positive regulation of membrane protein ectodomain proteolysis|post-Golgi vesicle-mediated transport	cytosol|Golgi apparatus|nucleus|plasma membrane	proline-rich region binding	g.chr4:152048836C>T	BX647422	CCDS34077.2, CCDS47143.1, CCDS47144.1	4q31.3	2009-03-05	2009-03-05	2009-03-05	ENSG00000109686	ENSG00000109686			30418	protein-coding gene	gene with protein product	"EEN binding protein"	608674				12477932	Standard	NM_001009555		Approved	DKFZp434D0215, EVE1, EBP, Kryn, SH3P19	uc010ipl.1	Q5HYK7	OTTHUMG00000154051	ENST00000409252.2:c.2190G>A	4.37:g.152048836C>T						SH3D19_ENST00000455740.1_Silent_p.P707P|SH3D19_ENST00000424281.1_Silent_p.P671P|SH3D19_ENST00000304527.4_Silent_p.P730P|SH3D19_ENST00000409252.2_Silent_p.P730P|SH3D19_ENST00000427414.2_Silent_p.P671P|SH3D19_ENST00000514152.1_Silent_p.P707P	p.P707P			Q5HYK7	SH319_HUMAN			19	3288	-	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.138)	730			SH3 4.		B7Z296|Q08EK1|Q32N10|Q5U3B8|Q86XB3|Q8N5E7|Q9UFC8	Silent	SNP	ENST00000409252.2	37	c.2121G>A	CCDS34077.2																																																																																				0.363	SH3D19-002	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000335132.3	NM_001009555		5	33	0	0	0	1	0	5	33					T	152048836	C	T	152048836	2	4	310	1	0	0	0	0	0	0	0	1	14249	871	31	2		2	SH3D19	4	152048836	Silent	SNP	C	TCGA-KK-A6DY-01A-12D-A30X-08	151032683	152048836	39105440	14	15954											
PCDHB12	56124	broad.mit.edu	37	chr5	140589806	140589806	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	acataaccgtgctggtctccGacgtcaatgacaacgccccc	10	7	8	16	4	2	1	1	1	1	0	3	2	2	1	4	1	3	1	4	1	3	1			TCGA-KK-A6DY-01A-12D-A30X-08	TCGA-KK-A6DY-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18ee8074-9dce-4718-bedf-7f58f009bffb	0a005527-1b2e-4204-8474-df49da92cb18	g.chr5:140589806G>A	ENST00000239450.2	+	1	1516	c.1327G>A	c.(1327-1329)Gac>Aac	p.D443N	PCDHB12_ENST00000541609.1_Missense_Mutation_p.D106N	NM_018932.3	NP_061755.1	Q9Y5F1	PCDBC_HUMAN	protocadherin beta 12	443	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCTGGTCTCCGACGTCAATGA	0.602																																						ENST00000239450.2																			0				NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1)	83						c.(1327-1329)Gac>Aac									106	100	102					5																	140589806		2203	4298	6501	SO:0001583	missense	0				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	g.chr5:140589806G>A	AF152491	CCDS4254.1	5q31	2010-01-26			ENSG00000120328	ENSG00000120328		"Cadherins / Protocadherins : Clustered"	8683	other	protocadherin		606338				10380929	Standard	NM_018932		Approved	PCDH-BETA12	uc003liz.3	Q9Y5F1	OTTHUMG00000129620	ENST00000239450.2:c.1327G>A	5.37:g.140589806G>A	ENSP00000239450:p.Asp443Asn					PCDHB12_ENST00000541609.1_Missense_Mutation_p.D106N	p.D443N	NM_018932.3	NP_061755.1	Q9Y5F1	PCDBC_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1516	+			443			Cadherin 4.		B4DDU1	Missense_Mutation	SNP	ENST00000239450.2	37	c.1327G>A	CCDS4254.1	.	.	.	.	.	.	.	.	.	.	G	17.43	3.388069	0.61956	.	.	ENSG00000120328	ENST00000541609;ENST00000239450;ENST00000507840	T;T	0.67698	-0.28;-0.28	3.83	3.83	0.44106	Cadherin (3);Cadherin conserved site (1);Cadherin-like (1);	.	.	.	.	D	0.85805	0.5782	M	0.93283	3.4	0.46701	D	0.999166	D	0.89917	1.0	D	0.97110	1.0	D	0.90355	0.4369	9	0.87932	D	0	.	15.759	0.78063	0.0:0.0:1.0:0.0	.	443	Q9Y5F1	PCDBC_HUMAN	N	106;443;63	ENSP00000440199:D106N;ENSP00000239450:D443N	ENSP00000239450:D443N	D	+	1	0	PCDHB12	140569990	1.000000	0.71417	0.746000	0.31095	0.044000	0.14063	7.939000	0.87685	1.859000	0.53934	0.485000	0.47835	GAC		0.602	PCDHB12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251815.2	NM_018932		15	123	0	0	0	1	0	15	123					A	140589806	G	A	140589806	3	1	310	1	0	0	0	0	1	0	0	0	11537	1058	37	2	1329	2	PCDHB12	5	140589806	Missense_Mutation	SNP	G	TCGA-KK-A6DY-01A-12D-A30X-08		140589806	40325454	15	15955											
LHFPL5	222662	broad.mit.edu	37	chr6	35773472	35773472	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tgaaattgctgccggcccagGaggcagccaagatctaccat	11	7	11	12	1	1	2	0	1	1	1	1	3	1	3	4	3	4	2	4	3	3	2			TCGA-KK-A6DY-01A-12D-A30X-08	TCGA-KK-A6DY-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18ee8074-9dce-4718-bedf-7f58f009bffb	0a005527-1b2e-4204-8474-df49da92cb18	g.chr6:35773472G>A	ENST00000373853.1	+	1	403	c.25G>A	c.(25-27)Gag>Aag	p.E9K	LHFPL5_ENST00000360215.1_Missense_Mutation_p.E9K			Q8TAF8	TMHS_HUMAN	lipoma HMGIC fusion partner-like 5	9					auditory receptor cell stereocilium organization (GO:0060088)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|ion transport (GO:0006811)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)|stereocilium bundle tip (GO:0032426)				endometrium(4)|large_intestine(4)|lung(7)|prostate(2)|skin(2)|urinary_tract(1)	20						GCCGGCCCAGGAGGCAGCCAA	0.612																																						ENST00000360215.1																			0				endometrium(4)|large_intestine(4)|lung(7)|prostate(2)|skin(2)|urinary_tract(1)	20						c.(25-27)Gag>Aag		lipoma HMGIC fusion partner-like 5							92	83	86					6																	35773472		2203	4300	6503	SO:0001583	missense	222662					integral to membrane		g.chr6:35773472G>A	BC028630	CCDS4812.1	6p21.31	2014-01-28				ENSG00000197753			21253	protein-coding gene	gene with protein product		609427	"deafness, autosomal recessive 67"	DFNB67		16459341	Standard	NM_182548		Approved	MGC33835, dJ510O8.8, Tmhs	uc003olg.1	Q8TAF8		ENST00000373853.1:c.25G>A	6.37:g.35773472G>A	ENSP00000362960:p.Glu9Lys					LHFPL5_ENST00000373853.1_Missense_Mutation_p.E9K	p.E9K	NM_182548.3	NP_872354.1	Q8TAF8	TMHS_HUMAN			1	402	+			9					B3KX66	Missense_Mutation	SNP	ENST00000373853.1	37	c.25G>A	CCDS4812.1	.	.	.	.	.	.	.	.	.	.	G	34	5.396687	0.96009	.	.	ENSG00000197753	ENST00000373853;ENST00000360215	T;T	0.79845	-1.31;-1.31	5.54	4.68	0.58851	.	0.046647	0.85682	D	0.000000	D	0.86867	0.6036	M	0.81682	2.555	0.53005	D	0.999966	D	0.63880	0.993	D	0.70935	0.971	D	0.89043	0.3450	10	0.72032	D	0.01	-20.6434	14.2282	0.65873	0.0715:0.0:0.9285:0.0	.	9	Q8TAF8	TMHS_HUMAN	K	9	ENSP00000362960:E9K;ENSP00000353346:E9K	ENSP00000353346:E9K	E	+	1	0	LHFPL5	35881450	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.775000	0.98995	1.340000	0.45581	0.542000	0.68232	GAG		0.612	LHFPL5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040323.1	NM_182548		13	75	0	0	0	1	0	13	75					A	35773472	G	A	35773472	3	1	310	1	0	0	0	0	1	0	0	0	8768	1175	41	3	27	3	LHFPL5	6	35773472	Missense_Mutation	SNP	G	TCGA-KK-A6DY-01A-12D-A30X-08		35773472	135341595	16	15956											
MOCS1	4337	broad.mit.edu	37	chr6	39877613	39877613	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ttcttcctgcccacagcagcCccaatgattctcagcagctc	8	10	6	17	0	2	1	1	1	2	0	5	1	3	1	4	0	5	3	4	0	1	3			TCGA-KK-A6DY-01A-12D-A30X-08	TCGA-KK-A6DY-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18ee8074-9dce-4718-bedf-7f58f009bffb	0a005527-1b2e-4204-8474-df49da92cb18	g.chr6:39877613C>A	ENST00000340692.5	-	9	1071	c.1068G>T	c.(1066-1068)ggG>ggT	p.G356G	MOCS1_ENST00000308559.7_Silent_p.G356G|MOCS1_ENST00000373188.2_Silent_p.G356G|MOCS1_ENST00000373175.4_Silent_p.G327G|MOCS1_ENST00000373186.4_Silent_p.G356G|MOCS1_ENST00000373195.3_Silent_p.G269G|MOCS1_ENST00000432280.2_Silent_p.G327G|MOCS1_ENST00000425303.2_Silent_p.G356G			Q9NZB8	MOCS1_HUMAN	molybdenum cofactor synthesis 1	356	Molybdenum cofactor biosynthesis protein A.				Mo-molybdopterin cofactor biosynthetic process (GO:0006777)|molybdopterin cofactor biosynthetic process (GO:0032324)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|molybdopterin synthase complex (GO:0019008)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|cyclic pyranopterin monophosphate synthase activity (GO:0061597)|GTP binding (GO:0005525)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	21	Ovarian(28;0.0355)|Colorectal(47;0.196)					CCACAGCAGCCCCAATGATTC	0.617																																					NSCLC(84;861 1413 23785 24908 42279)|Melanoma(182;611 2047 9114 11847 26639)	ENST00000373186.4																			0				central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	21						c.(1066-1068)ggG>ggT		molybdenum cofactor synthesis 1							114	102	106					6																	39877613		2203	4300	6503	SO:0001819	synonymous_variant	4337				Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol|molybdopterin synthase complex|nucleus	4 iron, 4 sulfur cluster binding|catalytic activity|GTP binding|metal ion binding	g.chr6:39877613C>A	AJ224328	CCDS4846.1, CCDS43460.1	6p21.2	2012-05-08			ENSG00000124615	ENSG00000124615			7190	protein-coding gene	gene with protein product		603707				9731530, 10053004	Standard	NM_001075098		Approved	MOCOD	uc003opb.3	Q9NZB8	OTTHUMG00000014656	ENST00000340692.5:c.1068G>T	6.37:g.39877613C>A						MOCS1_ENST00000373195.3_Silent_p.G269G|MOCS1_ENST00000373188.2_Silent_p.G356G|MOCS1_ENST00000373175.4_Silent_p.G327G|MOCS1_ENST00000425303.2_Silent_p.G356G|MOCS1_ENST00000432280.2_Silent_p.G327G|MOCS1_ENST00000340692.5_Silent_p.G356G|MOCS1_ENST00000308559.7_Silent_p.G356G	p.G356G	NM_005943.5	NP_005934.2	Q9NZB8	MOCS1_HUMAN			8	1205	-	Ovarian(28;0.0355)|Colorectal(47;0.196)		356			Molybdenum cofactor biosynthesis protein A.		B3KPT7|B4DTP1|O14940|O14941|O75710|Q5J7W0|Q5TCE1|Q5TCE2|Q5TCE6|Q5TCE9|Q5TCF0|Q5TCF1|Q8N418|Q9NZB7|Q9UEM1	Silent	SNP	ENST00000340692.5	37	c.1068G>T																																																																																					0.617	MOCS1-005	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000040476.2	NM_005943		30	108	1	0	8.4185e-14	1	9.14424e-14	30	108					A	39877613	C	A	39877613	2	1	310	1	0	0	0	0	0	0	0	1	9690	610	22	5		5	MOCS1	6	39877613	Silent	SNP	C	TCGA-KK-A6DY-01A-12D-A30X-08	4104141	39877613	131237454	17	15957											
RUNX2	860	broad.mit.edu	37	chr6	45390466	45390466	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cagcagcagcagcagcagcaAcagcagcagcagcagcagga	15	0	13	13	0	0	0	0	0	0	0	0	1	0	1	0	1	12	11	0	1	1	0	rs575896136	byFrequency	TCGA-KK-A6DY-01A-12D-A30X-08	TCGA-KK-A6DY-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18ee8074-9dce-4718-bedf-7f58f009bffb	0a005527-1b2e-4204-8474-df49da92cb18	g.chr6:45390466A>G	ENST00000371438.1	+	2	553	c.195A>G	c.(193-195)caA>caG	p.Q65Q	RP1-244F24.1_ENST00000606796.1_RNA|RUNX2_ENST00000352853.5_Silent_p.Q133Q|RUNX2_ENST00000541979.1_Silent_p.Q133Q|RUNX2_ENST00000465038.2_Silent_p.Q65Q|RUNX2_ENST00000371436.6_Silent_p.Q65Q|RUNX2_ENST00000576263.1_Silent_p.Q65Q|RUNX2_ENST00000371432.3_Silent_p.Q51Q|RUNX2_ENST00000359524.5_Silent_p.Q51Q	NM_001024630.3	NP_001019801.3	Q13950	RUNX2_HUMAN	runt-related transcription factor 2	65	Poly-Gln.				BMP signaling pathway (GO:0030509)|cell maturation (GO:0048469)|cellular response to BMP stimulus (GO:0071773)|chondrocyte development (GO:0002063)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic forelimb morphogenesis (GO:0035115)|endochondral ossification (GO:0001958)|gene expression (GO:0010467)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription, DNA-templated (GO:0045892)|odontogenesis of dentin-containing tooth (GO:0042475)|ossification (GO:0001503)|osteoblast development (GO:0002076)|osteoblast differentiation (GO:0001649)|osteoblast fate commitment (GO:0002051)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus (GO:1901522)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|regulation of odontogenesis of dentin-containing tooth (GO:0042487)|stem cell differentiation (GO:0048863)|T cell differentiation (GO:0030217)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						agcagcagcaacagcagcagc	0.731													A|||	8	0.00159744	0.0023	0	5008	,	,		7675	0.002		0	False		,,,				2504	0.0031					ENST00000371438.1																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						c.(193-195)caA>caG		runt-related transcription factor 2							10	15	14					6																	45390466		1452	3071	4523	SO:0001819	synonymous_variant	860				negative regulation of transcription, DNA-dependent|osteoblast differentiation|positive regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr6:45390466A>G	AF001450	CCDS43467.1, CCDS43468.1, CCDS43467.2, CCDS43468.2	6p21	2010-08-20			ENSG00000124813	ENSG00000124813			10472	protein-coding gene	gene with protein product		600211		CCD, CBFA1, CCD1		7835892	Standard	NM_001024630		Approved	AML3, PEBP2A1, PEBP2aA1	uc011dvx.2	Q13950	OTTHUMG00000014774	ENST00000371438.1:c.195A>G	6.37:g.45390466A>G						RUNX2_ENST00000352853.5_Silent_p.Q133Q|RUNX2_ENST00000371436.6_Silent_p.Q65Q|RUNX2_ENST00000576263.1_Silent_p.Q65Q|RUNX2_ENST00000465038.2_Silent_p.Q65Q|RUNX2_ENST00000541979.1_Silent_p.Q133Q|RUNX2_ENST00000371432.3_Silent_p.Q51Q|RUNX2_ENST00000359524.5_Silent_p.Q51Q	p.Q65Q	NM_001024630.3	NP_001019801.3	Q13950	RUNX2_HUMAN			2	553	+			65			Poly-Gln.		O14614|O14615|O95181	Silent	SNP	ENST00000371438.1	37	c.195A>G	CCDS43467.2																																																																																				0.731	RUNX2-003	KNOWN	not_organism_supported|upstream_ATG|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040755.2	NM_004348		5	53	0	0	0	1	0	5	53					G	45390466	A	G	45390466	2	3	310	1	0	0	0	0	0	0	0	1	13748	40	2	4		4	RUNX2	6	45390466	Silent	SNP	A	TCGA-KK-A6DY-01A-12D-A30X-08	5512853	45390466	125724601	18	15958											
CSMD1	64478	broad.mit.edu	37	chr8	2832109	2832109	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aacagctctccagtgaggacGgcgttggcagggacccctgg	8	6	15	12	2	1	1	0	1	1	0	2	3	1	3	3	5	2	3	3	5	1	1			TCGA-KK-A6DY-01A-12D-A30X-08	TCGA-KK-A6DY-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18ee8074-9dce-4718-bedf-7f58f009bffb	0a005527-1b2e-4204-8474-df49da92cb18	g.chr8:2832109G>A	ENST00000520002.1	-	57	9162	c.8607C>T	c.(8605-8607)gcC>gcT	p.A2869A	CSMD1_ENST00000537824.1_Silent_p.A2868A|CSMD1_ENST00000400186.3_Silent_p.A2811A|CSMD1_ENST00000542608.1_Silent_p.A2810A|CSMD1_ENST00000602723.1_Silent_p.A2811A|CSMD1_ENST00000602557.1_Silent_p.A2869A			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	2869	Sushi 21. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		CAGTGAGGACGGCGTTGGCAG	0.507																																						ENST00000520002.1																			0				breast(20)|large_intestine(5)	25						c.(8605-8607)gcC>gcT		CUB and Sushi multiple domains 1							39	42	41					8																	2832109		1979	4144	6123	SO:0001819	synonymous_variant	64478					integral to membrane		g.chr8:2832109G>A			8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	14026	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 24"	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.8607C>T	8.37:g.2832109G>A						CSMD1_ENST00000542608.1_Silent_p.A2810A|CSMD1_ENST00000537824.1_Silent_p.A2868A|CSMD1_ENST00000400186.3_Silent_p.A2811A|CSMD1_ENST00000602723.1_Silent_p.A2811A|CSMD1_ENST00000602557.1_Silent_p.A2869A	p.A2869A			Q96PZ7	CSMD1_HUMAN		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)	57	9162	-		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)	2869			Sushi 21.		Q0H0J5|Q96QU9|Q96RM4	Silent	SNP	ENST00000520002.1	37	c.8607C>T		.	.	.	.	.	.	.	.	.	.	G	6.196	0.404332	0.11754	.	.	ENSG00000183117	ENST00000335551	.	.	.	5.81	-11.0	0.00169	.	.	.	.	.	T	0.42877	0.1222	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.51965	-0.8638	4	.	.	.	.	6.7324	0.23390	0.3017:0.0826:0.509:0.1067	.	.	.	.	C	2286	.	.	R	-	1	0	CSMD1	2819516	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.773000	0.04689	-1.899000	0.01098	-1.202000	0.01658	CGT		0.507	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000374500.2	NM_033225		3	15	0	0	0	1	0	3	15					A	2832109	G	A	2832109	2	1	310	1	0	0	0	0	0	0	0	1	3944	1103	39	2		2	CSMD1	8	2832109	Silent	SNP	G	TCGA-KK-A6DY-01A-12D-A30X-08		2832109	143531913	19	15959											
ADCY8	114	broad.mit.edu	37	chr8	131861901	131861901	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatggatgcaaagatgatgaCgttccgggccaaataggtct	13	9	12	7	2	1	3	0	2	1	1	2	4	2	4	2	3	1	2	2	3	4	2			TCGA-KK-A6DY-01A-12D-A30X-08	TCGA-KK-A6DY-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18ee8074-9dce-4718-bedf-7f58f009bffb	0a005527-1b2e-4204-8474-df49da92cb18	g.chr8:131861901C>T	ENST00000286355.5	-	10	4451	c.2359G>A	c.(2359-2361)Gtc>Atc	p.V787I	ADCY8_ENST00000377928.3_Intron	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	787					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|learning or memory (GO:0007611)|long-term memory (GO:0007616)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			AAGATGATGACGTTCCGGGCC	0.463										HNSCC(32;0.087)																												ENST00000286355.5																			0				NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						c.(2359-2361)Gtc>Atc		adenylate cyclase 8 (brain)							132	123	126					8																	131861901		2203	4300	6503	SO:0001583	missense	114				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding	g.chr8:131861901C>T	Z35309	CCDS6363.1	8q24	2013-02-04			ENSG00000155897	ENSG00000155897	4.6.1.1	"Adenylate cyclases"	239	protein-coding gene	gene with protein product		103070		ADCY3		8076676	Standard	NM_001115		Approved	HBAC1, AC8	uc003ytd.4	P40145	OTTHUMG00000164756	ENST00000286355.5:c.2359G>A	8.37:g.131861901C>T	ENSP00000286355:p.Val787Ile	HNSCC(32;0.087)				ADCY8_ENST00000377928.3_Intron	p.V787I	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000538)		10	4451	-	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		787						Missense_Mutation	SNP	ENST00000286355.5	37	c.2359G>A	CCDS6363.1	.	.	.	.	.	.	.	.	.	.	C	12.29	1.892554	0.33442	.	.	ENSG00000155897	ENST00000286355	T	0.45668	0.89	5.25	3.44	0.39384	.	0.412422	0.25714	N	0.028786	T	0.24122	0.0584	N	0.25647	0.755	0.80722	D	1	B	0.31077	0.307	B	0.20384	0.029	T	0.04078	-1.0979	10	0.13470	T	0.59	.	10.3251	0.43787	0.0:0.8408:0.0:0.1592	.	787	P40145	ADCY8_HUMAN	I	787	ENSP00000286355:V787I	ENSP00000286355:V787I	V	-	1	0	ADCY8	131931083	1.000000	0.71417	0.949000	0.38748	0.999000	0.98932	4.588000	0.60999	0.585000	0.29608	0.655000	0.94253	GTC		0.463	ADCY8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380080.1			13	85	0	0	0	1	0	13	85					T	131861901	C	T	131861901	3	4	310	1	0	0	0	0	1	0	0	0	300	536	19	1	1432	1	ADCY8	8	131861901	Missense_Mutation	SNP	C	TCGA-KK-A6DY-01A-12D-A30X-08	129029792	131861901	14502121	20	15960											
ZNF623	9831	broad.mit.edu	37	chr8	144732272	144732272	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ttccccctctcaggacagggGctgcaagcaggtgacagtga	9	7	13	12	0	1	2	1	2	1	0	3	3	2	3	2	4	2	3	2	4	1	1	rs374072601		TCGA-KK-A6DY-01A-12D-A30X-08	TCGA-KK-A6DY-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18ee8074-9dce-4718-bedf-7f58f009bffb	0a005527-1b2e-4204-8474-df49da92cb18	g.chr8:144732272G>T	ENST00000501748.2	+	1	319	c.230G>T	c.(229-231)gGc>gTc	p.G77V	ZNF623_ENST00000458270.2_Missense_Mutation_p.G37V|ZNF623_ENST00000526926.1_Missense_Mutation_p.G37V	NM_014789.3	NP_055604	O75123	ZN623_HUMAN	zinc finger protein 623	77					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|kidney(3)|large_intestine(6)|lung(11)|prostate(1)|stomach(1)|urinary_tract(3)	27	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;5.28e-40)|all cancers(56;5.23e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			CAGGACAGGGGCTGCAAGCAG	0.547																																						ENST00000501748.2																			0				endometrium(2)|kidney(3)|large_intestine(6)|lung(11)|prostate(1)|stomach(1)|urinary_tract(3)	27						c.(229-231)gGc>gTc		zinc finger protein 623							75	79	78					8																	144732272		2203	4300	6503	SO:0001583	missense	9831				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr8:144732272G>T	AB014528	CCDS34957.1, CCDS47931.1	8q24.3	2013-01-08				ENSG00000183309		"Zinc fingers, C2H2-type"	29084	protein-coding gene	gene with protein product						9734811	Standard	NM_014789		Approved	KIAA0628	uc003yzd.2	O75123		ENST00000501748.2:c.230G>T	8.37:g.144732272G>T	ENSP00000445979:p.Gly77Val					ZNF623_ENST00000526926.1_Missense_Mutation_p.G37V|ZNF623_ENST00000458270.2_Missense_Mutation_p.G37V	p.G77V	NM_014789.3	NP_055604.3	O75123	ZN623_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;5.28e-40)|all cancers(56;5.23e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)		1	319	+	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		77					A4FU80|B4DGP3|E7ENV5	Missense_Mutation	SNP	ENST00000501748.2	37	c.230G>T	CCDS34957.1	.	.	.	.	.	.	.	.	.	.	G	9.017	0.983932	0.18889	.	.	ENSG00000183309	ENST00000526926;ENST00000328466;ENST00000458270;ENST00000532796;ENST00000501748	T;T;T	0.05855	3.38;3.38;3.4	3.5	1.7	0.24286	.	.	.	.	.	T	0.04003	0.0112	N	0.14661	0.345	0.09310	N	0.999997	B	0.23650	0.089	B	0.24269	0.052	T	0.41124	-0.9526	9	0.56958	D	0.05	-4.0954	5.3291	0.15922	0.3633:0.0:0.6367:0.0	.	77	O75123	ZN623_HUMAN	V	37;37;37;77;77	ENSP00000435232:G37V;ENSP00000411139:G37V;ENSP00000445979:G77V	ENSP00000330358:G37V	G	+	2	0	ZNF623	144803415	0.001000	0.12720	0.001000	0.08648	0.219000	0.24729	1.029000	0.30140	0.496000	0.27904	0.655000	0.94253	GGC		0.547	ZNF623-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382522.3	NM_014789		33	73	1	0	3.62531e-18	1	4.00692e-18	33	73					T	144732272	G	T	144732272	3	4	310	1	0	0	0	0	1	0	0	0	18044	1203	42	5	232	5	ZNF623	8	144732272	Missense_Mutation	SNP	G	TCGA-KK-A6DY-01A-12D-A30X-08	12870371	144732272	1631750	21	15961											
TRPM6	140803	broad.mit.edu	37	chr9	77415276	77415276	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gtcgtaatcctcccgacacgGccagtttaaggcaggtcgaa	10	8	11	12	4	0	0	0	0	0	0	4	2	2	0	3	3	0	3	3	3	3	3			TCGA-KK-A6DY-01A-12D-A30X-08	TCGA-KK-A6DY-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18ee8074-9dce-4718-bedf-7f58f009bffb	0a005527-1b2e-4204-8474-df49da92cb18	g.chr9:77415276G>A	ENST00000360774.1	-	17	2369	c.2132C>T	c.(2131-2133)gCc>gTc	p.A711V	TRPM6_ENST00000449912.2_Missense_Mutation_p.A706V|TRPM6_ENST00000451710.3_Missense_Mutation_p.A711V|TRPM6_ENST00000361255.3_Missense_Mutation_p.A706V|TRPM6_ENST00000376864.4_Missense_Mutation_p.A711V|TRPM6_ENST00000376871.3_Intron|TRPM6_ENST00000376872.3_Intron|RN7SKP47_ENST00000365347.1_RNA	NM_017662.4	NP_060132.3	Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	711					calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|response to toxic substance (GO:0009636)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium channel activity (GO:0005262)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						TCCCGACACGGCCAGTTTAAG	0.493																																						ENST00000451710.3																			0				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						c.(2131-2133)gCc>gTc		transient receptor potential cation channel, subfamily M, member 6							129	105	113					9																	77415276		2203	4300	6503	SO:0001583	missense	140803				response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr9:77415276G>A	AK026281	CCDS6647.1, CCDS55318.1, CCDS55319.1	9q21.13	2011-12-14	2003-12-02		ENSG00000119121	ENSG00000119121		"Voltage-gated ion channels / Transient receptor potential cation channels"	17995	protein-coding gene	gene with protein product		607009	"hypomagnesemia, secondary hypocalcemia"	HOMG, HSH		10021370, 12032570, 16382100	Standard	NM_017662		Approved	CHAK2, FLJ22628	uc004ajk.1	Q9BX84	OTTHUMG00000020027	ENST00000360774.1:c.2132C>T	9.37:g.77415276G>A	ENSP00000354006:p.Ala711Val					TRPM6_ENST00000449912.2_Missense_Mutation_p.A706V|TRPM6_ENST00000376864.4_Missense_Mutation_p.A711V|TRPM6_ENST00000376871.3_Intron|TRPM6_ENST00000376872.3_Intron|TRPM6_ENST00000361255.3_Missense_Mutation_p.A706V|TRPM6_ENST00000360774.1_Missense_Mutation_p.A711V	p.A711V			Q9BX84	TRPM6_HUMAN			17	2369	-			711					Q6VPR8|Q6VPR9|Q6VPS0|Q6VPS1|Q6VPS2	Missense_Mutation	SNP	ENST00000360774.1	37	c.2132C>T	CCDS6647.1	.	.	.	.	.	.	.	.	.	.	G	35	5.509984	0.96386	.	.	ENSG00000119121	ENST00000360774;ENST00000451710;ENST00000449912;ENST00000361255;ENST00000376864;ENST00000312449;ENST00000448641	T;T;T;T;T	0.75589	-0.95;-0.95;-0.95;-0.95;-0.95	6.06	6.06	0.98353	.	0.093752	0.64402	D	0.000001	D	0.89938	0.6860	M	0.91663	3.23	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.83275	0.996;0.968;0.991	D	0.90918	0.4781	10	0.87932	D	0	.	20.2501	0.98402	0.0:0.0:1.0:0.0	.	374;711;706	F5H7D1;Q9BX84;Q9BX84-3	.;TRPM6_HUMAN;.	V	711;711;706;706;711;374;374	ENSP00000354006:A711V;ENSP00000407341:A711V;ENSP00000396672:A706V;ENSP00000354962:A706V;ENSP00000366060:A711V	ENSP00000309693:A374V	A	-	2	0	TRPM6	76605096	1.000000	0.71417	0.972000	0.41901	0.749000	0.42624	9.869000	0.99810	2.880000	0.98712	0.650000	0.86243	GCC		0.493	TRPM6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000052693.1	NM_017662		4	88	0	0	0	1	0	4	88					A	77415276	G	A	77415276	3	1	310	1	0	0	0	0	1	0	0	0	16587	1203	42	3	4028	3	TRPM6	9	77415276	Missense_Mutation	SNP	G	TCGA-KK-A6DY-01A-12D-A30X-08		77415276	63798155	22	15962											
COL5A1	1289	broad.mit.edu	37	chr9	137642640	137642640	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgtcttacacttgcagttccGgtttggaggtggcggcgatg	5	13	15	8	3	1	0	0	0	1	0	2	2	2	1	1	5	2	3	1	5	1	4	rs375762619		TCGA-KK-A6DY-01A-12D-A30X-08	TCGA-KK-A6DY-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18ee8074-9dce-4718-bedf-7f58f009bffb	0a005527-1b2e-4204-8474-df49da92cb18	g.chr9:137642640G>A	ENST00000371817.3	+	13	1988	c.1574G>A	c.(1573-1575)cGg>cAg	p.R525Q		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	525	Interrupted collagenous region.				axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular fibril organization (GO:0043206)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|eye morphogenesis (GO:0048592)|heart morphogenesis (GO:0003007)|integrin biosynthetic process (GO:0045112)|negative regulation of endodermal cell differentiation (GO:1903225)|regulation of cellular component organization (GO:0051128)|skin development (GO:0043588)|tendon development (GO:0035989)|wound healing, spreading of epidermal cells (GO:0035313)	basement membrane (GO:0005604)|collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|proteoglycan binding (GO:0043394)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		TTGCAGTTCCGGTTTGGAGGT	0.627													G|||	1	0.000199681	0	0.0014	5008	,	,		16754	0		0	False		,,,				2504	0					ENST00000371817.3																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115						c.(1573-1575)cGg>cAg		collagen, type V, alpha 1		G	GLN/ARG	0,4406		0,0,2203	37	38	38		1574	4.5	1	9		38	1,8597	1.2+/-3.3	0,1,4298	no	missense	COL5A1	NM_000093.3	43	0,1,6501	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	525/1839	137642640	1,13003	2203	4299	6502	SO:0001583	missense	1289				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding	g.chr9:137642640G>A	D90279	CCDS6982.1, CCDS75932.1	9q34.2-q34.3	2014-09-17			ENSG00000130635	ENSG00000130635		"Collagens"	2209	protein-coding gene	gene with protein product	"alpha 1 type V collagen"	120215				1572660	Standard	NM_001278074		Approved		uc031tfl.1	P20908	OTTHUMG00000020891	ENST00000371817.3:c.1574G>A	9.37:g.137642640G>A	ENSP00000360882:p.Arg525Gln						p.R525Q	NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)	13	1988	+		Myeloproliferative disorder(178;0.0341)	525			Interrupted collagenous region.		Q15094|Q5SUX4	Missense_Mutation	SNP	ENST00000371817.3	37	c.1574G>A	CCDS6982.1	.	.	.	.	.	.	.	.	.	.	G	15.51	2.855883	0.51376	0.0	1.16E-4	ENSG00000130635	ENST00000371817	D	0.89617	-2.54	4.54	4.54	0.55810	.	0.000000	0.64402	U	0.000001	D	0.90256	0.6953	L	0.48218	1.51	0.58432	D	0.999997	D	0.76494	0.999	P	0.56751	0.805	D	0.88863	0.3327	10	0.30078	T	0.28	.	16.4173	0.83746	0.0:0.0:1.0:0.0	.	525	P20908	CO5A1_HUMAN	Q	525	ENSP00000360882:R525Q	ENSP00000360882:R525Q	R	+	2	0	COL5A1	136782461	1.000000	0.71417	0.966000	0.40874	0.437000	0.31866	6.726000	0.74758	2.223000	0.72356	0.563000	0.77884	CGG		0.627	COL5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054954.2	NM_000093		7	38	0	0	0	1	0	7	38					A	137642640	G	A	137642640	3	1	310	1	0	0	0	0	1	0	0	0	3696	1116	39	2	1624	2	COL5A1	9	137642640	Missense_Mutation	SNP	G	TCGA-KK-A6DY-01A-12D-A30X-08	60227364	137642640	3570791	23	15963											
ST5	6764	broad.mit.edu	37	chr11	8737335	8737335	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttctgaccagttcccactgcGcagggactggctgttgggtt	5	12	13	11	1	1	1	0	1	1	0	2	2	2	2	2	3	1	5	2	3	0	4			TCGA-KK-A6DY-01A-12D-A30X-08	TCGA-KK-A6DY-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18ee8074-9dce-4718-bedf-7f58f009bffb	0a005527-1b2e-4204-8474-df49da92cb18	g.chr11:8737335G>A	ENST00000534127.1	-	9	2045	c.1660C>T	c.(1660-1662)Cgc>Tgc	p.R554C	ST5_ENST00000530991.1_Missense_Mutation_p.R26C|ST5_ENST00000530438.1_Missense_Mutation_p.R134C|ST5_ENST00000526099.1_Missense_Mutation_p.R67C|ST5_ENST00000357665.1_Missense_Mutation_p.R554C|ST5_ENST00000526757.1_Missense_Mutation_p.R134C|ST5_ENST00000313726.6_Missense_Mutation_p.R554C	NM_005418.3	NP_005409.3	P78524	ST5_HUMAN	suppression of tumorigenicity 5	554					positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of Rab GTPase activity (GO:0032851)		Rab guanyl-nucleotide exchange factor activity (GO:0017112)			NS(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(13)|liver(1)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	39				Epithelial(150;2.63e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0352)		TTCCCACTGCGCAGGGACTGG	0.622																																						ENST00000534127.1																			0				NS(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(13)|liver(1)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	39						c.(1660-1662)Cgc>Tgc		suppression of tumorigenicity 5							78	66	70					11																	8737335		2201	4296	6497	SO:0001583	missense	6764				positive regulation of ERK1 and ERK2 cascade		protein binding	g.chr11:8737335G>A	U15131	CCDS7791.1, CCDS7792.1	11p15	2012-10-04				ENSG00000166444		"DENN/MADD domain containing"	11350	protein-coding gene	gene with protein product	"DENN/MADD domain containing 2B"	140750				1390339	Standard	NM_005418		Approved	HTS1, DENND2B, p126	uc001mgt.3	P78524		ENST00000534127.1:c.1660C>T	11.37:g.8737335G>A	ENSP00000433528:p.Arg554Cys					ST5_ENST00000357665.1_Missense_Mutation_p.R554C|ST5_ENST00000313726.6_Missense_Mutation_p.R554C|ST5_ENST00000530438.1_Missense_Mutation_p.R134C|ST5_ENST00000530991.1_Missense_Mutation_p.R26C|ST5_ENST00000526757.1_Missense_Mutation_p.R134C|ST5_ENST00000526099.1_Missense_Mutation_p.R67C	p.R554C	NM_005418.3	NP_005409.3	P78524	ST5_HUMAN		Epithelial(150;2.63e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0352)	9	2045	-			554					B2R6X7|B3KXQ6|P78523|Q16492|Q7KYY2|Q7KZ12|Q8NE12|Q9BQQ6	Missense_Mutation	SNP	ENST00000534127.1	37	c.1660C>T	CCDS7791.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	29.5|29.5	5.015002|5.015002	0.93404|0.93404	.|.	.|.	ENSG00000166444|ENSG00000166444	ENST00000527510|ENST00000526757;ENST00000534127;ENST00000313726;ENST00000530991;ENST00000357665;ENST00000526099;ENST00000530438;ENST00000533020;ENST00000447053;ENST00000530593;ENST00000528527;ENST00000531060;ENST00000526057;ENST00000528196;ENST00000530580	.|T;T;T;T;T;T;T;T;T;T;T;T	.|0.10192	.|2.9;2.9;2.9;2.9;2.9;2.9;2.9;2.9;2.9;2.9;2.9;2.9	5.6|5.6	5.6|5.6	0.85130|0.85130	.|.	.|0.127336	.|0.52532	.|D	.|0.000066	T|T	0.23492|0.23492	0.0568|0.0568	L|L	0.50333|0.50333	1.59|1.59	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.76494	.|0.997;0.998;0.999	.|P;P;P	.|0.59357	.|0.634;0.827;0.856	T|T	0.00110|0.00110	-1.2047|-1.2047	6|10	0.42905|0.38643	T|T	0.14|0.18	-13.2865|-13.2865	15.2488|15.2488	0.73526|0.73526	0.0:0.0:0.859:0.141|0.0:0.0:0.859:0.141	.|.	.|67;134;554	.|B4DDL8;P78524-2;P78524	.|.;.;ST5_HUMAN	V|C	127|134;554;554;26;554;67;134;26;164;26;26;43;26;134;134	.|ENSP00000435097:R134C;ENSP00000433528:R554C;ENSP00000319678:R554C;ENSP00000432887:R26C;ENSP00000350294:R554C;ENSP00000436808:R67C;ENSP00000436802:R134C;ENSP00000433588:R26C;ENSP00000437096:R26C;ENSP00000431580:R26C;ENSP00000433858:R43C;ENSP00000431564:R134C	ENSP00000434701:A127V|ENSP00000319678:R554C	A|R	-|-	2|1	0|0	ST5|ST5	8693911|8693911	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.992000|0.992000	0.81027|0.81027	6.944000|6.944000	0.75940|0.75940	2.640000|2.640000	0.89533|0.89533	0.655000|0.655000	0.94253|0.94253	GCG|CGC		0.622	ST5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386518.1	NM_005418		7	111	0	0	0	1	0	7	111					A	8737335	G	A	8737335	3	1	310	1	0	0	0	0	1	0	0	0	15219	1087	38	1	1813	1	ST5	11	8737335	Missense_Mutation	SNP	G	TCGA-KK-A6DY-01A-12D-A30X-08		8737335	126269181	24	15964											
PLEKHA5	54477	broad.mit.edu	37	chr12	19436440	19436440	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggcagctctacgaatggcagCagcgtcagttttataacaaa	13	9	10	9	2	2	0	1	0	1	0	2	1	2	0	0	2	5	5	0	2	5	4			TCGA-KK-A6DY-01A-12D-A30X-08	TCGA-KK-A6DY-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18ee8074-9dce-4718-bedf-7f58f009bffb	0a005527-1b2e-4204-8474-df49da92cb18	g.chr12:19436440C>T	ENST00000299275.6	+	11	1528	c.1522C>T	c.(1522-1524)Cag>Tag	p.Q508*	PLEKHA5_ENST00000309364.4_Nonsense_Mutation_p.Q508*|PLEKHA5_ENST00000317589.4_Nonsense_Mutation_p.Q508*|PLEKHA5_ENST00000359180.3_Nonsense_Mutation_p.Q508*|PLEKHA5_ENST00000538714.1_Nonsense_Mutation_p.Q508*|PLEKHA5_ENST00000429027.2_Nonsense_Mutation_p.Q514*|PLEKHA5_ENST00000355397.3_Nonsense_Mutation_p.Q508*|PLEKHA5_ENST00000539256.1_Nonsense_Mutation_p.Q266*|PLEKHA5_ENST00000510738.2_3'UTR|PLEKHA5_ENST00000543806.1_Nonsense_Mutation_p.Q400*|PLEKHA5_ENST00000424268.1_Nonsense_Mutation_p.Q400*	NM_019012.5	NP_061885.2	Q9HAU0	PKHA5_HUMAN	pleckstrin homology domain containing, family A member 5	508					reproductive system development (GO:0061458)	cytosol (GO:0005829)|membrane (GO:0016020)	1-phosphatidylinositol binding (GO:0005545)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4-phosphate binding (GO:0070273)|phosphatidylinositol-5-phosphate binding (GO:0010314)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804)					CGAATGGCAGCAGCGTCAGTT	0.478																																					Pancreas(196;329 2193 11246 14234 19524)	ENST00000538714.1																			0				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						c.(1522-1524)Cag>Tag		pleckstrin homology domain containing, family A member 5							105	101	102					12																	19436440		2203	4300	6503	SO:0001587	stop_gained	54477						1-phosphatidylinositol binding|protein binding	g.chr12:19436440C>T	AF302150	CCDS8682.1, CCDS44840.1, CCDS44840.2, CCDS55809.1, CCDS58213.1, CCDS58214.1	12p12	2013-01-10			ENSG00000052126	ENSG00000052126		"Pleckstrin homology (PH) domain containing"	30036	protein-coding gene	gene with protein product		607770				11214970, 11001876	Standard	NM_001143821		Approved	PEPP2, KIAA1686, FLJ10667	uc031qgo.1	Q9HAU0	OTTHUMG00000167921	ENST00000299275.6:c.1522C>T	12.37:g.19436440C>T	ENSP00000299275:p.Gln508*					PLEKHA5_ENST00000424268.1_Nonsense_Mutation_p.Q400*|PLEKHA5_ENST00000359180.3_Nonsense_Mutation_p.Q508*|PLEKHA5_ENST00000355397.3_Nonsense_Mutation_p.Q508*|PLEKHA5_ENST00000299275.6_Nonsense_Mutation_p.Q508*|PLEKHA5_ENST00000429027.2_Nonsense_Mutation_p.Q514*|PLEKHA5_ENST00000539256.1_Nonsense_Mutation_p.Q266*|PLEKHA5_ENST00000510738.2_3'UTR|PLEKHA5_ENST00000309364.4_Nonsense_Mutation_p.Q508*|PLEKHA5_ENST00000543806.1_Nonsense_Mutation_p.Q400*|PLEKHA5_ENST00000317589.4_Nonsense_Mutation_p.Q508*	p.Q508*	NM_001143821.2	NP_001137293.2	Q9HAU0	PKHA5_HUMAN			11	1526	+	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804)		508					A0JP03|B4DGS1|E9PHQ3|F5H0I0|Q6NSF8|Q86ST7|Q8N3K6|Q96DY9|Q9BVR4|Q9C0H7|Q9H924|Q9NVK8	Nonsense_Mutation	SNP	ENST00000299275.6	37	c.1522C>T	CCDS8682.1	.	.	.	.	.	.	.	.	.	.	C	41	8.892666	0.98992	.	.	ENSG00000052126	ENST00000317589;ENST00000355397;ENST00000359180;ENST00000542828;ENST00000309364;ENST00000429027;ENST00000299275;ENST00000539256;ENST00000538714;ENST00000424268;ENST00000543806;ENST00000536974	.	.	.	4.19	4.19	0.49359	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-8.6809	17.0912	0.86622	0.0:1.0:0.0:0.0	.	.	.	.	X	508;508;508;515;508;514;508;266;508;400;400;400	.	ENSP00000299275:Q508X	Q	+	1	0	PLEKHA5	19327707	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.804000	0.75186	2.321000	0.78463	0.655000	0.94253	CAG		0.478	PLEKHA5-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000397013.1	NM_019012		26	93	0	0	0	1	0	26	93					T	19436440	C	T	19436440	4	4	310	1	0	0	0	0	0	1	0	0	12059	711	25	3	1564	3	PLEKHA5	12	19436440	Nonsense_Mutation	SNP	C	TCGA-KK-A6DY-01A-12D-A30X-08		19436440	114415455	25	15965											
DDN	23109	broad.mit.edu	37	chr12	49391578	49391578	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtggtgcctggatctgggagCgggatgcggggcacagggag	6	6	22	7	2	1	0	0	0	1	0	1	4	1	4	1	7	3	1	1	7	0	0			TCGA-KK-A6DY-01A-12D-A30X-08	TCGA-KK-A6DY-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18ee8074-9dce-4718-bedf-7f58f009bffb	0a005527-1b2e-4204-8474-df49da92cb18	g.chr12:49391578C>T	ENST00000421952.2	-	2	1102	c.1081G>A	c.(1081-1083)Gct>Act	p.A361T	RP11-386G11.5_ENST00000547395.1_RNA|RP11-386G11.5_ENST00000552284.1_RNA|RP11-386G11.5_ENST00000552933.1_RNA|RP11-386G11.3_ENST00000549516.1_RNA|RP11-386G11.5_ENST00000547866.1_RNA	NM_015086.1	NP_055901.2	O94850	DEND_HUMAN	dendrin	361	Interaction with ACTN1.					cell projection (GO:0042995)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|stomach(1)	8						GATCTGGGAGCGGGATGCGGG	0.607																																						ENST00000421952.2																			0				NS(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|stomach(1)	8						c.(1081-1083)Gct>Act		dendrin							38	39	38					12																	49391578		2203	4300	6503	SO:0001583	missense	23109					dendritic spine membrane|endoplasmic reticulum membrane|nucleus|perikaryon		g.chr12:49391578C>T	AB018292	CCDS31791.2	12q13	2008-02-05			ENSG00000181418	ENSG00000181418			24458	protein-coding gene	gene with protein product		610588					Standard	NM_015086		Approved	KIAA0749	uc001rsv.1	O94850	OTTHUMG00000156183	ENST00000421952.2:c.1081G>A	12.37:g.49391578C>T	ENSP00000390590:p.Ala361Thr						p.A361T	NM_015086.1	NP_055901.2	O94850	DEND_HUMAN			2	1102	-			361			Interaction with ACTN1.			Missense_Mutation	SNP	ENST00000421952.2	37	c.1081G>A	CCDS31791.2	.	.	.	.	.	.	.	.	.	.	C	2.277	-0.365621	0.05069	.	.	ENSG00000181418	ENST00000421952	T	0.45276	0.9	4.09	2.27	0.28462	.	0.326902	0.22343	N	0.061313	T	0.22085	0.0532	N	0.24115	0.695	0.09310	N	1	B	0.20459	0.045	B	0.18871	0.023	T	0.19712	-1.0297	10	0.10377	T	0.69	-18.1259	6.1056	0.20071	0.0:0.6888:0.0:0.3112	.	361	O94850	DEND_HUMAN	T	361	ENSP00000390590:A361T	ENSP00000390590:A361T	A	-	1	0	DDN	47677845	0.000000	0.05858	0.005000	0.12908	0.395000	0.30598	-0.137000	0.10389	0.699000	0.31761	-0.258000	0.10820	GCT		0.607	DDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343335.1			12	46	0	0	0	1	0	12	46					T	49391578	C	T	49391578	3	4	310	1	0	0	0	0	1	0	0	0	4333	768	27	1	1058	1	DDN	12	49391578	Missense_Mutation	SNP	C	TCGA-KK-A6DY-01A-12D-A30X-08	29955138	49391578	84460317	26	15966											
NCKAP1L	3071	broad.mit.edu	37	chr12	54903702	54903702	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccagggggctgagcagtggcGcagtgcccaacttctaagcc	8	6	14	13	1	1	1	0	1	1	0	1	1	1	1	3	3	4	3	3	3	2	2			TCGA-KK-A6DY-01A-12D-A30X-08	TCGA-KK-A6DY-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18ee8074-9dce-4718-bedf-7f58f009bffb	0a005527-1b2e-4204-8474-df49da92cb18	g.chr12:54903702G>A	ENST00000293373.6	+	7	747	c.668G>A	c.(667-669)cGc>cAc	p.R223H	NCKAP1L_ENST00000552211.1_3'UTR|NCKAP1L_ENST00000545638.2_Missense_Mutation_p.R173H	NM_005337.4	NP_005328.2	P55160	NCKPL_HUMAN	NCK-associated protein 1-like	223					actin polymerization-dependent cell motility (GO:0070358)|B cell homeostasis (GO:0001782)|B cell receptor signaling pathway (GO:0050853)|chemotaxis (GO:0006935)|cortical actin cytoskeleton organization (GO:0030866)|erythrocyte development (GO:0048821)|maintenance of cell polarity (GO:0030011)|myeloid cell homeostasis (GO:0002262)|negative regulation of apoptotic process (GO:0043066)|negative regulation of interleukin-17 production (GO:0032700)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of myosin-light-chain-phosphatase activity (GO:0035509)|neutrophil chemotaxis (GO:0030593)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of CD4-positive, alpha-beta T cell differentiation (GO:0043372)|positive regulation of CD8-positive, alpha-beta T cell differentiation (GO:0043378)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of gamma-delta T cell differentiation (GO:0045588)|positive regulation of lymphocyte differentiation (GO:0045621)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of phagocytosis, engulfment (GO:0060100)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of T cell proliferation (GO:0042102)|protein complex assembly (GO:0006461)|response to drug (GO:0042493)|T cell homeostasis (GO:0043029)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|SCAR complex (GO:0031209)	protein complex binding (GO:0032403)|protein kinase activator activity (GO:0030295)|Rac GTPase activator activity (GO:0030675)	p.R223H(1)		NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2)	80						GAGCAGTGGCGCAGTGCCCAA	0.512																																						ENST00000293373.6																			1	Substitution - Missense(1)	p.R223H(1)	endometrium(1)	NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2)	80						c.(667-669)cGc>cAc		NCK-associated protein 1-like							155	151	153					12																	54903702		2203	4300	6503	SO:0001583	missense	3071				actin polymerization-dependent cell motility|B cell homeostasis|B cell receptor signaling pathway|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of actin filament polymerization|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|positive regulation of T cell proliferation|protein complex assembly|response to drug|T cell homeostasis	cytosol|integral to plasma membrane|membrane fraction|SCAR complex	protein complex binding|protein kinase activator activity|Rac GTPase activator activity	g.chr12:54903702G>A	AI924363	CCDS31813.1, CCDS53799.1	12q13.1	2005-10-11	2005-10-11	2005-10-11		ENSG00000123338			4862	protein-coding gene	gene with protein product		141180	"hematopoietic protein 1"	HEM1		1932118	Standard	NM_005337		Approved		uc001sgc.4	P55160	OTTHUMG00000169843	ENST00000293373.6:c.668G>A	12.37:g.54903702G>A	ENSP00000293373:p.Arg223His					NCKAP1L_ENST00000545638.2_Missense_Mutation_p.R173H|NCKAP1L_ENST00000552211.1_3'UTR	p.R223H	NM_005337.4	NP_005328.2	P55160	NCKPL_HUMAN			7	747	+			223					B4DUT5|Q52LW0	Missense_Mutation	SNP	ENST00000293373.6	37	c.668G>A	CCDS31813.1	.	.	.	.	.	.	.	.	.	.	G	35	5.472268	0.96274	.	.	ENSG00000123338	ENST00000293373;ENST00000545638	T;T	0.57595	0.39;0.39	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	T	0.75125	0.3807	M	0.80616	2.505	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.77600	-0.2527	10	0.87932	D	0	-12.4271	17.6174	0.88071	0.0:0.0:1.0:0.0	.	223	P55160	NCKPL_HUMAN	H	223;173	ENSP00000293373:R223H;ENSP00000445596:R173H	ENSP00000293373:R223H	R	+	2	0	NCKAP1L	53189969	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.444000	0.97578	2.746000	0.94184	0.563000	0.77884	CGC		0.512	NCKAP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406195.1	NM_005337		6	146	0	0	0	1	0	6	146					A	54903702	G	A	54903702	3	1	310	1	0	0	0	0	1	0	0	0	10222	1087	38	1	694	1	NCKAP1L	12	54903702	Missense_Mutation	SNP	G	TCGA-KK-A6DY-01A-12D-A30X-08	5512124	54903702	78948193	27	15967											
PAH	5053	broad.mit.edu	37	chr12	103234271	103234271	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtagcgaactgagaagggccGaggtattgtggcagcaaagt	12	7	16	6	2	0	1	0	1	0	1	0	4	0	1	1	3	3	4	1	3	5	3	rs5030858	byFrequency	TCGA-KK-A6DY-01A-12D-A30X-08	TCGA-KK-A6DY-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18ee8074-9dce-4718-bedf-7f58f009bffb	0a005527-1b2e-4204-8474-df49da92cb18	g.chr12:103234271G>A	ENST00000553106.1	-	12	1694	c.1222C>T	c.(1222-1224)Cgg>Tgg	p.R408W	PAH_ENST00000307000.2_Missense_Mutation_p.R403W	NM_000277.1	NP_000268.1	P00439	PH4H_HUMAN	phenylalanine hydroxylase	408			R -> Q (in PKU; haplotypes 4,12). {ECO:0000269|PubMed:1355066}.|R -> W (in HPA and PKU; haplotypes 1,2,4,5,13,34, 41,44; most common mutation; reduction in activity is probably due to a global conformational change in the protein that reduces allostery; dbSNP:rs5030858). {ECO:0000269|PubMed:12501224, ECO:0000269|PubMed:1355066, ECO:0000269|PubMed:22513348, ECO:0000269|PubMed:23792259, ECO:0000269|PubMed:8889590, ECO:0000269|PubMed:9452062, ECO:0000269|PubMed:9600453}.		catecholamine biosynthetic process (GO:0042423)|cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|L-phenylalanine catabolic process (GO:0006559)|neurotransmitter biosynthetic process (GO:0042136)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	amino acid binding (GO:0016597)|iron ion binding (GO:0005506)|phenylalanine 4-monooxygenase activity (GO:0004505)			endometrium(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(5)|skin(2)|urinary_tract(1)	27					Droxidopa(DB06262)|Epinephrine(DB00668)|L-Phenylalanine(DB00120)|Norepinephrine(DB00368)|Tetrahydrobiopterin(DB00360)	GAGAAGGGCCGAGGTATTGTG	0.458													G|||	2	0.000399361	8e-04	0	5008	,	,		16874	0		0.001	False		,,,				2504	0					ENST00000553106.1																			0				endometrium(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(5)|skin(2)|urinary_tract(1)	27	GRCh37	CD941753|CM870016	PAH	D|M	rs5030858	c.(1222-1224)Cgg>Tgg		phenylalanine hydroxylase	Epinephrine(DB00668)|L-Phenylalanine(DB00120)|Levodopa(DB01235)|Norepinephrine(DB00368)|Tetrahydrobiopterin(DB00360)	G	TRP/ARG	0,4406		0,0,2203	149	134	139	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	1222	1.4	0.1	12	dbSNP_113	139	15,8585	11.2+/-40.8	0,15,4285	yes	missense	PAH	NM_000277.1	101	0,15,6488	AA,AG,GG		0.1744,0.0,0.1153	probably-damaging	408/453	103234271	15,12991	2203	4300	6503	SO:0001583	missense	5053				catecholamine biosynthetic process|L-phenylalanine catabolic process|neurotransmitter biosynthetic process	cytosol	phenylalanine 4-monooxygenase activity	g.chr12:103234271G>A	U49897	CCDS9092.1	12q22-q24.2	2010-04-27				ENSG00000171759	1.14.16.1		8582	protein-coding gene	gene with protein product	"phenylalanine 4-monooxygenase"	612349				2063869	Standard	NM_000277		Approved	PH	uc001tjq.1	P00439		ENST00000553106.1:c.1222C>T	12.37:g.103234271G>A	ENSP00000448059:p.Arg408Trp					PAH_ENST00000307000.2_Missense_Mutation_p.R403W	p.R408W	NM_000277.1	NP_000268.1	P00439	PH4H_HUMAN			12	1694	-			408		R -> Q (in PKU; haplotypes 4,12).|R -> W (in PKU; haplotypes 1,2,4,5,13,34, 41,44; most common mutation).			Q16717|Q8TC14	Missense_Mutation	SNP	ENST00000553106.1	37	c.1222C>T	CCDS9092.1	2	9.157509157509158E-4	1	0.0020325203252032522	0	0.0	0	0.0	1	0.0013192612137203166	G	19.02	3.746341	0.69418	0.0	0.001744	ENSG00000171759	ENST00000553106;ENST00000307000	D;D	0.99793	-6.77;-6.77	5.63	1.44	0.22558	Aromatic amino acid hydroxylase, C-terminal (4);	0.106718	0.64402	D	0.000010	D	0.99843	0.9928	H	0.96633	3.855	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	D	0.97868	1.0284	10	0.87932	D	0	-12.2594	14.5102	0.67780	0.0:0.0:0.5437:0.4563	rs5030858;rs28934898;rs52789707;rs57200983;rs62644491	408	P00439	PH4H_HUMAN	W	408;403	ENSP00000448059:R408W;ENSP00000303500:R403W	ENSP00000303500:R403W	R	-	1	2	PAH	101758401	0.998000	0.40836	0.099000	0.21106	0.957000	0.61999	4.137000	0.58010	-0.005000	0.14395	0.561000	0.74099	CGG		0.458	PAH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406692.1			21	76	0	0	0	1	0	21	76					A	103234271	G	A	103234271	3	1	310	1	0	0	0	0	1	0	0	0	11394	1057	37	2	144	2	PAH	12	103234271	Missense_Mutation	SNP	G	TCGA-KK-A6DY-01A-12D-A30X-08	48330569	103234271	30617624	28	15968											
FLT3	2322	broad.mit.edu	37	chr13	28608023	28608023	+	Splice_Site	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tgtccttccactatactgtaCctttcagcattttgacggca	8	15	6	12	1	1	1	1	1	0	0	3	1	3	1	3	1	3	3	3	1	3	7			TCGA-KK-A6DY-01A-12D-A30X-08	TCGA-KK-A6DY-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18ee8074-9dce-4718-bedf-7f58f009bffb	0a005527-1b2e-4204-8474-df49da92cb18	g.chr13:28608023C>G	ENST00000241453.7	-	15	2024		c.e15+1		FLT3_ENST00000537084.1_Splice_Site|FLT3_ENST00000380982.4_Splice_Site	NM_004119.2	NP_004110.2	P36888	FLT3_HUMAN	fms-related tyrosine kinase 3						B cell differentiation (GO:0030183)|cellular response to cytokine stimulus (GO:0071345)|common myeloid progenitor cell proliferation (GO:0035726)|cytokine-mediated signaling pathway (GO:0019221)|dendritic cell differentiation (GO:0097028)|hemopoiesis (GO:0030097)|leukocyte homeostasis (GO:0001776)|lymphocyte proliferation (GO:0046651)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of B cell differentiation (GO:0045578)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of tyrosine phosphorylation of STAT protein (GO:0042531)|pro-B cell differentiation (GO:0002328)|pro-T cell differentiation (GO:0002572)|protein autophosphorylation (GO:0046777)|regulation of apoptotic process (GO:0042981)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor signaling pathway (GO:0038084)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|cytokine receptor activity (GO:0004896)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(12329)|kidney(2)|large_intestine(8)|lung(30)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12390	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	Ponatinib(DB08901)|Sorafenib(DB00398)|Sunitinib(DB01268)	CTATACTGTACCTTTCAGCAT	0.433			"Mis, O"		"AML, ALL"																																	ENST00000380982.4				Dom	yes		13	13q12	2322	"Mis, O"	fms-related tyrosine kinase 3			L			"AML, ALL"		0				NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(12329)|kidney(2)|large_intestine(8)|lung(30)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12390						c.e15+1		fms-related tyrosine kinase 3	Sorafenib(DB00398)|Sunitinib(DB01268)						215	187	196					13																	28608023		2203	4300	6503	SO:0001630	splice_region_variant	2322				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|vascular endothelial growth factor receptor activity	g.chr13:28608023C>G	U02687	CCDS31953.1	13q12	2014-09-17			ENSG00000122025	ENSG00000122025	2.7.10.1	"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	3765	protein-coding gene	gene with protein product		136351				8394751	Standard	NM_004119		Approved	STK1, FLK2, CD135	uc001urw.3	P36888	OTTHUMG00000016646	ENST00000241453.7:c.1942+1G>C	13.37:g.28608023C>G						FLT3_ENST00000241453.7_Splice_Site|FLT3_ENST00000537084.1_Splice_Site				P36888	FLT3_HUMAN	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	15	2024	-	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)						A0AVG9|B7ZLT7|B7ZLT8|F5H0A0|Q13414	Splice_Site	SNP	ENST00000241453.7	37		CCDS31953.1	.	.	.	.	.	.	.	.	.	.	C	14.85	2.658039	0.47467	.	.	ENSG00000122025	ENST00000241453;ENST00000380982;ENST00000537084	.	.	.	5.72	5.72	0.89469	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.8831	0.96905	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	FLT3	27506023	1.000000	0.71417	0.992000	0.48379	0.221000	0.24807	7.016000	0.76393	2.705000	0.92388	0.655000	0.94253	.		0.433	FLT3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000044319.2		Intron	31	101	0	0	0	1	0	31	101					G	28608023	C	G	28608023	5	3	310	1	0	0	0	0	0	0	1	0	5942	521	18	5	1078	5	FLT3	13	28608023	Splice_Site	SNP	C	TCGA-KK-A6DY-01A-12D-A30X-08		28608023	86561855	29	15969											
PRKD1	5587	broad.mit.edu	37	chr14	30068924	30068924	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cttttcacttgacaagatcaTttccagcatgtctccatgga	10	14	6	11	0	3	2	2	1	1	1	5	3	4	3	2	1	1	1	2	1	1	4			TCGA-KK-A6DY-01A-12D-A30X-08	TCGA-KK-A6DY-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18ee8074-9dce-4718-bedf-7f58f009bffb	0a005527-1b2e-4204-8474-df49da92cb18	g.chr14:30068924T>C	ENST00000331968.5	-	14	2234	c.2005A>G	c.(2005-2007)Atg>Gtg	p.M669V	PRKD1_ENST00000415220.2_Missense_Mutation_p.M677V	NM_002742.2	NP_002733.2	Q15139	KPCD1_HUMAN	protein kinase D1	669	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|cellular response to oxidative stress (GO:0034599)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|Golgi organization (GO:0007030)|Golgi vesicle transport (GO:0048193)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|intracellular signal transduction (GO:0035556)|negative regulation of cell death (GO:0060548)|negative regulation of endocytosis (GO:0045806)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell chemotaxis by VEGF-activated vascular endothelial growth factor receptor signaling pathway (GO:0038033)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of histone deacetylase activity (GO:1901727)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of neuron projection development (GO:0010976)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein autophosphorylation (GO:0046777)|regulation of integrin-mediated signaling pathway (GO:2001044)|regulation of keratinocyte proliferation (GO:0010837)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cell cortex (GO:0005938)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|lung(32)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	78	Hepatocellular(127;0.0604)		LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252)	GBM - Glioblastoma multiforme(265;0.00888)		GACAAGATCATTTCCAGCATG	0.378																																						ENST00000331968.5																			0				NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|lung(32)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	78						c.(2005-2007)Atg>Gtg		protein kinase D1							118	116	117					14																	30068924		2203	4300	6503	SO:0001583	missense	5587				cell proliferation|intracellular signal transduction|sphingolipid metabolic process	cytosol|integral to plasma membrane	ATP binding|metal ion binding|protein binding|protein kinase C activity	g.chr14:30068924T>C		CCDS9637.1	14q11	2013-01-10	2004-10-28	2004-10-30	ENSG00000184304	ENSG00000184304	2.7.11.1	"Pleckstrin homology (PH) domain containing"	9407	protein-coding gene	gene with protein product		605435	"protein kinase C, mu"	PRKCM		8119958, 10965134	Standard	NM_002742		Approved	PKCM, PKD, PKC-mu	uc001wqh.3	Q15139	OTTHUMG00000140203	ENST00000331968.5:c.2005A>G	14.37:g.30068924T>C	ENSP00000333568:p.Met669Val					PRKD1_ENST00000415220.2_Missense_Mutation_p.M677V	p.M669V	NM_002742.2	NP_002733.2	Q15139	KPCD1_HUMAN	LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252)	GBM - Glioblastoma multiforme(265;0.00888)	14	2234	-	Hepatocellular(127;0.0604)		669			Protein kinase.		A6NL64|B2RAF6	Missense_Mutation	SNP	ENST00000331968.5	37	c.2005A>G	CCDS9637.1	.	.	.	.	.	.	.	.	.	.	T	22.2	4.251636	0.80135	.	.	ENSG00000184304	ENST00000331968;ENST00000415220	D;D	0.81659	-1.52;-1.52	5.95	5.95	0.96441	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.76499	0.3996	N	0.12182	0.205	0.80722	D	1	P	0.51933	0.949	P	0.52031	0.688	T	0.81322	-0.0985	10	0.72032	D	0.01	-26.3729	16.4237	0.83790	0.0:0.0:0.0:1.0	.	669	Q15139	KPCD1_HUMAN	V	669;677	ENSP00000333568:M669V;ENSP00000390535:M677V	ENSP00000333568:M669V	M	-	1	0	PRKD1	29138675	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.997000	0.88414	2.279000	0.76181	0.533000	0.62120	ATG		0.378	PRKD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000276611.2	NM_002742		5	76	0	0	0	1	0	5	76					C	30068924	T	C	30068924	3	2	310	1	0	0	0	0	1	0	0	0	12518	1493	52	4	753	4	PRKD1	14	30068924	Missense_Mutation	SNP	T	TCGA-KK-A6DY-01A-12D-A30X-08		30068924	77280616	30	15970											
DUOX2	50506	broad.mit.edu	37	chr15	45399594	45399594	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggcactggggtcaatgttgaTaacagcgaccagcacgtccc	10	7	12	12	2	1	1	1	1	0	0	2	2	2	1	2	3	3	3	2	3	2	2			TCGA-KK-A6DY-01A-12D-A30X-08	TCGA-KK-A6DY-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18ee8074-9dce-4718-bedf-7f58f009bffb	0a005527-1b2e-4204-8474-df49da92cb18	g.chr15:45399594T>C	ENST00000603300.1	-	14	1844	c.1642A>G	c.(1642-1644)Atc>Gtc	p.I548V	DUOX2_ENST00000389039.6_Missense_Mutation_p.I548V	NM_014080.4	NP_054799.4	Q9NRD8	DUOX2_HUMAN	dual oxidase 2	548	Peroxidase-like; mediates peroxidase activity. {ECO:0000250}.				adenohypophysis morphogenesis (GO:0048855)|bone mineralization (GO:0030282)|cuticle development (GO:0042335)|cytokine-mediated signaling pathway (GO:0019221)|fertilization (GO:0009566)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide catabolic process (GO:0042744)|inner ear development (GO:0048839)|multicellular organism growth (GO:0035264)|oxidation-reduction process (GO:0055114)|response to cAMP (GO:0051591)|response to virus (GO:0009615)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|heme binding (GO:0020037)|NAD(P)H oxidase activity (GO:0016174)|peroxidase activity (GO:0004601)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	63		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)		TCAATGTTGATAACAGCGACC	0.522																																						ENST00000389039.6																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	63						c.(1642-1644)Atc>Gtc		dual oxidase 2							157	138	144					15																	45399594		2198	4298	6496	SO:0001583	missense	50506				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|response to virus	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|peroxidase activity	g.chr15:45399594T>C	AF181972	CCDS10117.1	15q15.3-q21	2013-01-10			ENSG00000140279	ENSG00000140279		"EF-hand domain containing"	13273	protein-coding gene	gene with protein product	"dual oxidase-like domains 2", "nicotinamide adenine dinucleotide phosphate oxidase", "flavoprotein NADPH oxidase", "NADPH thyroid oxidase 2", "NADH/NADPH thyroid oxidase p138-tox", "NADPH oxidase/peroxidase DUOX2"	606759				10601291, 10806195	Standard	NM_014080		Approved	P138-TOX, P138(TOX), THOX2, LNOX2	uc010bea.3	Q9NRD8	OTTHUMG00000131355	ENST00000603300.1:c.1642A>G	15.37:g.45399594T>C	ENSP00000475084:p.Ile548Val					DUOX2_ENST00000603300.1_Missense_Mutation_p.I548V	p.I548V			Q9NRD8	DUOX2_HUMAN		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)	14	2027	-		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)	548			Peroxidase-like; mediates peroxidase activity (By similarity).		A8MQ13|D2XI64|Q9NR02|Q9UHF9	Missense_Mutation	SNP	ENST00000603300.1	37	c.1642A>G	CCDS10117.1	.	.	.	.	.	.	.	.	.	.	T	9.828	1.187676	0.21870	.	.	ENSG00000140279	ENST00000389039	.	.	.	5.48	3.12	0.35913	.	0.144343	0.64402	D	0.000007	T	0.25082	0.0609	N	0.14661	0.345	0.20821	N	0.999845	B;B	0.15719	0.001;0.014	B;B	0.25759	0.012;0.063	T	0.20605	-1.0270	9	0.62326	D	0.03	-6.0227	6.5886	0.22634	0.1415:0.0755:0.0:0.783	.	548;110	Q9NRD8;Q59GU9	DUOX2_HUMAN;.	V	548	.	ENSP00000373691:I548V	I	-	1	0	DUOX2	43186886	1.000000	0.71417	0.166000	0.22797	0.021000	0.10359	4.322000	0.59215	0.354000	0.24105	0.523000	0.50628	ATC		0.522	DUOX2-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_014080		34	100	0	0	0	1	0	34	100					C	45399594	T	C	45399594	3	2	310	1	0	0	0	0	1	0	0	0	4801	1406	49	4	3088	4	DUOX2	15	45399594	Missense_Mutation	SNP	T	TCGA-KK-A6DY-01A-12D-A30X-08		45399594	57131798	31	15971											
TRIP4	9325	broad.mit.edu	37	chr15	64706363	64706363	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tggatagatcttctgaagagCctttgggagttctggtaaat	10	14	12	5	0	3	3	0	1	3	2	3	5	3	5	1	3	1	2	1	3	4	5			TCGA-KK-A6DY-01A-12D-A30X-08	TCGA-KK-A6DY-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18ee8074-9dce-4718-bedf-7f58f009bffb	0a005527-1b2e-4204-8474-df49da92cb18	g.chr15:64706363C>T	ENST00000261884.3	+	8	1183	c.1123C>T	c.(1123-1125)Cct>Tct	p.P375S		NM_016213.4	NP_057297.2	Q15650	TRIP4_HUMAN	thyroid hormone receptor interactor 4	375					positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	ligand-dependent nuclear receptor binding (GO:0016922)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	21						TTCTGAAGAGCCTTTGGGAGT	0.448																																						ENST00000261884.3																			0				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	21						c.(1123-1125)Cct>Tct		thyroid hormone receptor interactor 4							120	111	114					15																	64706363		2203	4300	6503	SO:0001583	missense	9325				positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleus	ligand-dependent nuclear receptor binding|transcription coactivator activity|zinc ion binding	g.chr15:64706363C>T	L40371	CCDS10194.1	15q22.1	2014-02-17			ENSG00000103671	ENSG00000103671		"-"	12310	protein-coding gene	gene with protein product	"zinc finger, C2HC5-type"	604501				7776974	Standard	NM_016213		Approved	HsT17391, ZC2HC5	uc002anm.3	Q15650	OTTHUMG00000133033	ENST00000261884.3:c.1123C>T	15.37:g.64706363C>T	ENSP00000261884:p.Pro375Ser						p.P375S	NM_016213.4	NP_057297.2	Q15650	TRIP4_HUMAN			8	1183	+			375					B2RAS0|Q96ED7|Q9UKH0	Missense_Mutation	SNP	ENST00000261884.3	37	c.1123C>T	CCDS10194.1	.	.	.	.	.	.	.	.	.	.	C	11.04	1.520682	0.27211	.	.	ENSG00000103671	ENST00000261884	.	.	.	5.53	5.53	0.82687	.	0.424990	0.27941	N	0.017238	T	0.39860	0.1094	N	0.20986	0.625	0.43803	D	0.996353	B	0.15719	0.014	B	0.10450	0.005	T	0.24657	-1.0154	9	0.09084	T	0.74	-1.037	11.9854	0.53145	0.0:0.9179:0.0:0.0821	.	375	Q15650	TRIP4_HUMAN	S	375	.	ENSP00000261884:P375S	P	+	1	0	TRIP4	62493416	0.995000	0.38212	1.000000	0.80357	0.986000	0.74619	1.850000	0.39328	2.588000	0.87417	0.655000	0.94253	CCT		0.448	TRIP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256635.2	NM_016213		8	67	0	0	0	1	0	8	67					T	64706363	C	T	64706363	3	4	310	1	0	0	0	0	1	0	0	0	16555	739	26	3	1153	3	TRIP4	15	64706363	Missense_Mutation	SNP	C	TCGA-KK-A6DY-01A-12D-A30X-08	19306769	64706363	37825029	32	15972											
PML	5371	broad.mit.edu	37	chr15	74336765	74336765	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggcctcccaaacttcttcCgggccctggaggacattaac	8	9	9	15	1	1	0	0	0	1	0	3	2	3	2	4	4	2	0	4	4	2	3			TCGA-KK-A6DY-01A-12D-A30X-08	TCGA-KK-A6DY-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18ee8074-9dce-4718-bedf-7f58f009bffb	0a005527-1b2e-4204-8474-df49da92cb18	g.chr15:74336765C>T	ENST00000268058.3	+	9	2161	c.2065C>T	c.(2065-2067)Cgg>Tgg	p.R689W	PML_ENST00000565898.1_Missense_Mutation_p.R641W	NM_033238.2	NP_150241.2	P29590	PML_HUMAN	promyelocytic leukemia	689					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|branching involved in mammary gland duct morphogenesis (GO:0060444)|cell cycle arrest (GO:0007050)|cell fate commitment (GO:0045165)|cellular response to interleukin-4 (GO:0071353)|cellular senescence (GO:0090398)|circadian regulation of gene expression (GO:0032922)|common-partner SMAD protein phosphorylation (GO:0007182)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|entrainment of circadian clock by photoperiod (GO:0043153)|extrinsic apoptotic signaling pathway (GO:0097191)|innate immune response (GO:0045087)|interferon-gamma-mediated signaling pathway (GO:0060333)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|maintenance of protein location in nucleus (GO:0051457)|myeloid cell differentiation (GO:0030099)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000059)|negative regulation of telomerase activity (GO:0051974)|negative regulation of telomere maintenance via telomerase (GO:0032211)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of translation in response to oxidative stress (GO:0032938)|negative regulation of viral release from host cell (GO:1902187)|PML body organization (GO:0030578)|positive regulation of apoptotic process involved in mammary gland involution (GO:0060058)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of histone deacetylation (GO:0031065)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein complex assembly (GO:0006461)|protein stabilization (GO:0050821)|protein targeting (GO:0006605)|regulation of calcium ion transport into cytosol (GO:0010522)|regulation of circadian rhythm (GO:0042752)|regulation of double-strand break repair (GO:2000779)|regulation of MHC class I biosynthetic process (GO:0045343)|regulation of protein phosphorylation (GO:0001932)|regulation of transcription, DNA-templated (GO:0006355)|response to cytokine (GO:0034097)|response to gamma radiation (GO:0010332)|response to hypoxia (GO:0001666)|response to UV (GO:0009411)|retinoic acid receptor signaling pathway (GO:0048384)|SMAD protein import into nucleus (GO:0007184)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|extrinsic component of endoplasmic reticulum membrane (GO:0042406)|nuclear matrix (GO:0016363)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	cobalt ion binding (GO:0050897)|DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|SUMO binding (GO:0032183)|transcription coactivator activity (GO:0003713)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	31						AAACTTCTTCCGGGCCCTGGA	0.647			T	"RARA, PAX5"	"APL, ALL"																																	ENST00000565898.1				Dom	yes		15	15q22	5371	T	promyelocytic leukemia			L	"RARA, PAX5"		"APL, ALL"		0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	31						c.(1921-1923)Cgg>Tgg		promyelocytic leukemia							41	45	43					15																	74336765		2198	4297	6495	SO:0001583	missense	5371				cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction resulting in induction of apoptosis|endoplasmic reticulum calcium ion homeostasis|induction of apoptosis|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|maintenance of protein location in nucleus|negative regulation of angiogenesis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of mitotic cell cycle|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|negative regulation of telomerase activity|negative regulation of telomere maintenance via telomerase|negative regulation of transcription, DNA-dependent|negative regulation of translation in response to oxidative stress|PML body organization|positive regulation of defense response to virus by host|positive regulation of histone deacetylation|protein complex assembly|protein stabilization|protein targeting|regulation of calcium ion transport into cytosol|regulation of protein phosphorylation|response to hypoxia|response to virus|transcription, DNA-dependent	cytoplasm|cytosol|early endosome membrane|extrinsic to endoplasmic reticulum membrane|insoluble fraction|nuclear matrix|nuclear membrane|nucleolus|nucleus|PML body	cobalt ion binding|DNA binding|protein binding|protein heterodimerization activity|protein homodimerization activity|SUMO binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding	g.chr15:74336765C>T	AB208950	CCDS10255.1, CCDS10256.1, CCDS10257.1, CCDS10258.1, CCDS45297.1, CCDS45298.1, CCDS45299.1, CCDS45300.1, CCDS58386.1	15q24.1	2011-04-21			ENSG00000140464	ENSG00000140464		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	9113	protein-coding gene	gene with protein product		102578					Standard	NM_033244		Approved	MYL, TRIM19, RNF71	uc002awv.3	P29590	OTTHUMG00000137607	ENST00000268058.3:c.2065C>T	15.37:g.74336765C>T	ENSP00000268058:p.Arg689Trp					PML_ENST00000268058.3_Missense_Mutation_p.R689W	p.R641W			P29590	PML_HUMAN			8	2005	+			689					E9PBR7|P29591|P29592|P29593|Q00755|Q15959|Q59FP9|Q8WUA0|Q96S41|Q9BPW2|Q9BWP7|Q9BZX6|Q9BZX7|Q9BZX8|Q9BZX9|Q9BZY0|Q9BZY2|Q9BZY3	Missense_Mutation	SNP	ENST00000268058.3	37	c.1921C>T	CCDS10255.1	.	.	.	.	.	.	.	.	.	.	C	11.77	1.738250	0.30774	.	.	ENSG00000140464	ENST00000268058;ENST00000417341;ENST00000418568	T	0.54866	0.55	5.18	0.638	0.17742	.	1.416120	0.04517	N	0.383993	T	0.34221	0.0890	L	0.27053	0.805	0.27444	N	0.953627	P;B	0.49635	0.926;0.001	B;B	0.36504	0.226;0.001	T	0.37174	-0.9717	10	0.87932	D	0	-6.6011	2.8829	0.05653	0.396:0.3751:0.1377:0.0912	.	689;641	P29590;P29590-11	PML_HUMAN;.	W	689;250;672	ENSP00000268058:R689W	ENSP00000268058:R689W	R	+	1	2	PML	72123818	0.024000	0.19004	0.457000	0.27056	0.554000	0.35429	0.152000	0.16302	0.296000	0.22592	-0.253000	0.11424	CGG		0.647	PML-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269021.3	NM_002675		4	58	0	0	0	1	0	4	58					T	74336765	C	T	74336765	3	4	310	1	0	0	0	0	1	0	0	0	12135	643	23	2	3116	2	PML	15	74336765	Missense_Mutation	SNP	C	TCGA-KK-A6DY-01A-12D-A30X-08	9630402	74336765	28194627	33	15973											
MT1E	4493	broad.mit.edu	37	chr16	56659784	56659784	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atggaccccaactgctcttgCgccactggtaagggaagctc	9	8	11	13	1	1	0	0	0	1	0	2	2	1	2	3	3	4	3	3	3	3	2			TCGA-KK-A6DY-01A-12D-A30X-08	TCGA-KK-A6DY-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18ee8074-9dce-4718-bedf-7f58f009bffb	0a005527-1b2e-4204-8474-df49da92cb18	g.chr16:56659784C>T	ENST00000306061.6	+	1	398	c.21C>T	c.(19-21)tgC>tgT	p.C7C	MT1E_ENST00000568293.1_Silent_p.C7C|MT1E_ENST00000330439.6_Silent_p.C7C	NM_175617.3	NP_783316.2	P04732	MT1E_HUMAN	metallothionein 1E	7	Beta.				cellular response to cadmium ion (GO:0071276)|cellular response to zinc ion (GO:0071294)|negative regulation of growth (GO:0045926)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	zinc ion binding (GO:0008270)										ACTGCTCTTGCGCCACTGGTA	0.547																																						ENST00000330439.6																			0											c.(19-21)tgC>tgT		metallothionein 1E							136	120	125					16																	56659784		2198	4300	6498	SO:0001819	synonymous_variant	4493					cytoplasm	cadmium ion binding|copper ion binding|zinc ion binding	g.chr16:56659784C>T	BC009699	CCDS10764.2	16q13	2008-08-11	2007-03-02		ENSG00000169715	ENSG00000169715		"Metallothioneins"	7397	protein-coding gene	gene with protein product		156351		MT1		6089206, 2581970	Standard	XM_005255956		Approved	MTD	uc002ejl.3	P04732	OTTHUMG00000133014	ENST00000306061.6:c.21C>T	16.37:g.56659784C>T						MT1E_ENST00000568293.1_Silent_p.C7C|MT1E_ENST00000306061.6_Silent_p.C7C	p.C7C			P04732	MT1E_HUMAN			1	75	+			7			Beta.		A2RRF7|Q86YX4|Q8TD51	Silent	SNP	ENST00000306061.6	37	c.21C>T	CCDS10764.2																																																																																				0.547	MT1E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256600.1	NM_175617		4	134	0	0	0	1	0	4	134					T	56659784	C	T	56659784	2	4	310	1	0	0	0	0	0	0	0	1	9899	776	27	1		1	MT1E	16	56659784	Silent	SNP	C	TCGA-KK-A6DY-01A-12D-A30X-08		56659784	33694969	34	15974											
TP53	7157	broad.mit.edu	37	chr17	7578406	7578406	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agcgctcatggtgggggcagCgcctcacaacctccgtcatg	7	7	13	14	3	3	0	3	0	0	0	4	0	4	0	3	3	3	2	3	3	1	0	rs28934578		TCGA-KK-A6DY-01A-12D-A30X-08	TCGA-KK-A6DY-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18ee8074-9dce-4718-bedf-7f58f009bffb	0a005527-1b2e-4204-8474-df49da92cb18	g.chr17:7578406C>T	ENST00000269305.4	-	5	713	c.524G>A	c.(523-525)cGc>cAc	p.R175H	TP53_ENST00000359597.4_Missense_Mutation_p.R175H|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000455263.2_Missense_Mutation_p.R175H|TP53_ENST00000420246.2_Missense_Mutation_p.R175H|TP53_ENST00000413465.2_Missense_Mutation_p.R175H|TP53_ENST00000445888.2_Missense_Mutation_p.R175H	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	175	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		R -> C (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; does not induce SNAI1 degradation; reduces interaction with ZNF385A; dbSNP:rs28934578). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1868473, ECO:0000269|PubMed:7887414, ECO:0000269|PubMed:8825920}.|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R175H(847)|p.R43H(36)|p.R82H(36)|p.R175L(19)|p.0?(8)|p.R175P(6)|p.R174fs*24(3)|p.R175_E180delRCPHHE(3)|p.V173fs*59(2)|p.R174fs*1(2)|p.V157_C176del20(1)|p.V173fs*69(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.R175_H178>X(1)|p.R175fs*5(1)|p.R42fs*24(1)|p.R174_C176delRRC(1)|p.H168fs*69(1)|p.R174fs*70(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.R174fs*3(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GTGGGGGCAGCGCCTCACAAC	0.652	R175H(AU565_BREAST)|R175H(CAL33_UPPER_AERODIGESTIVE_TRACT)|R175H(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|R175H(HCC1395_BREAST)|R175H(HUCCT1_BILIARY_TRACT)|R175H(KLE_ENDOMETRIUM)|R175H(KMS26_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R175H(LS123_LARGE_INTESTINE)|R175H(NCIH196_LUNG)|R175H(RKN_OVARY)|R175H(SKBR3_BREAST)|R175H(SKUT1_SOFT_TISSUE)|R175H(TYKNU_OVARY)	111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2	R175H(AU565_BREAST)|R175H(CAL33_UPPER_AERODIGESTIVE_TRACT)|R175H(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|R175H(HCC1395_BREAST)|R175H(HUCCT1_BILIARY_TRACT)|R175H(KLE_ENDOMETRIUM)|R175H(KMS26_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R175H(LS123_LARGE_INTESTINE)|R175H(NCIH196_LUNG)|R175H(RKN_OVARY)|R175H(SKBR3_BREAST)|R175H(SKUT1_SOFT_TISSUE)|R175H(TYKNU_OVARY)	111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"Mis, N, F"	tumor protein p53			"L, E, M, O"		"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"	"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"		980	Substitution - Missense(944)|Deletion - Frameshift(17)|Whole gene deletion(8)|Deletion - In frame(8)|Complex - deletion inframe(3)	p.R175H(847)|p.R43H(36)|p.R82H(36)|p.R175L(19)|p.0?(8)|p.R175P(6)|p.R174fs*24(3)|p.R175_E180delRCPHHE(3)|p.V173fs*59(2)|p.R174fs*1(2)|p.V157_C176del20(1)|p.V173fs*69(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.R175_H178>X(1)|p.R175fs*5(1)|p.R42fs*24(1)|p.R174_C176delRRC(1)|p.H168fs*69(1)|p.R174fs*70(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.R174fs*3(1)	large_intestine(350)|breast(103)|upper_aerodigestive_tract(74)|stomach(70)|central_nervous_system(69)|oesophagus(67)|ovary(58)|lung(40)|haematopoietic_and_lymphoid_tissue(39)|urinary_tract(22)|prostate(17)|liver(14)|pancreas(11)|endometrium(10)|biliary_tract(10)|bone(9)|kidney(4)|cervix(4)|skin(3)|vulva(2)|soft_tissue(2)|penis(1)|adrenal_gland(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185	GRCh37	CM062017|CM951224	TP53	M	rs28934578	c.(523-525)cGc>cAc	Other conserved DNA damage response genes	tumor protein p53							50	50	50					17																	7578406		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578406C>T	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"Li-Fraumeni syndrome"	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.524G>A	17.37:g.7578406C>T	ENSP00000269305:p.Arg175His	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_ENST00000445888.2_Missense_Mutation_p.R175H|TP53_ENST00000413465.2_Missense_Mutation_p.R175H|TP53_ENST00000359597.4_Missense_Mutation_p.R175H|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000455263.2_Missense_Mutation_p.R175H|TP53_ENST00000269305.4_Missense_Mutation_p.R175H	p.R175H	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	5	656	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	175		R -> C (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934578).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.524G>A	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	31	5.079737	0.94050	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99889	-7.55;-7.55;-7.55;-7.55;-7.55;-7.55;-7.55;-7.55	5.41	5.41	0.78517	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.101149	0.64402	D	0.000008	D	0.99908	0.9956	M	0.92784	3.345	0.80722	A	1	D;P;D;D;P;B;D	0.89917	0.999;0.578;1.0;0.998;0.632;0.213;0.999	D;B;D;D;B;B;D	0.91635	0.985;0.26;0.999;0.921;0.378;0.144;0.939	D	0.96278	0.9204	9	0.87932	D	0	-11.8679	17.0767	0.86588	0.0:1.0:0.0:0.0	rs28934578	136;175;175;82;175;175;175	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	H	175;175;175;175;175;175;164;82;43;82;43	ENSP00000410739:R175H;ENSP00000352610:R175H;ENSP00000269305:R175H;ENSP00000398846:R175H;ENSP00000391127:R175H;ENSP00000391478:R175H;ENSP00000425104:R43H;ENSP00000423862:R82H	ENSP00000269305:R175H	R	-	2	0	TP53	7519131	1.000000	0.71417	0.989000	0.46669	0.795000	0.44927	6.042000	0.70996	2.702000	0.92279	0.655000	0.94253	CGC		0.652	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		14	32	0	0	0	1	0	14	32					T	7578406	C	T	7578406	3	4	310	1	0	0	0	0	1	0	0	0	16378	768	27	1	774	1	TP53	17	7578406	Missense_Mutation	SNP	C	TCGA-KK-A6DY-01A-12D-A30X-08		7578406	73616804	35	15975											
CEACAM7	1087	broad.mit.edu	37	chr19	42187829	42187829	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgagtagaacgagggtcctgTtgtcagtggagagcagcagc	10	8	16	7	1	1	3	1	1	0	2	2	5	2	3	1	2	4	4	1	2	2	2			TCGA-KK-A6DY-01A-12D-A30X-08	TCGA-KK-A6DY-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18ee8074-9dce-4718-bedf-7f58f009bffb	0a005527-1b2e-4204-8474-df49da92cb18	g.chr19:42187829T>C	ENST00000006724.3	-	3	794	c.593A>G	c.(592-594)aAc>aGc	p.N198S	CEACAM7_ENST00000401731.1_Missense_Mutation_p.N198S|CEACAM7_ENST00000338196.4_Intron|CEACAM7_ENST00000599715.1_5'Flank|CEACAM7_ENST00000602225.1_Intron	NM_006890.3	NP_008821.1	Q14002	CEAM7_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 7	198	Ig-like C2-type.					anchored component of membrane (GO:0031225)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	18				OV - Ovarian serous cystadenocarcinoma(3;0.0027)|all cancers(3;0.00979)|Epithelial(262;0.0366)		GAGGGTCCTGTTGTCAGTGGA	0.527																																						ENST00000006724.3																			0				breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	18						c.(592-594)aAc>aGc		carcinoembryonic antigen-related cell adhesion molecule 7							172	161	165					19																	42187829		2203	4300	6503	SO:0001583	missense	1087					anchored to membrane|integral to membrane|plasma membrane		g.chr19:42187829T>C	X98311	CCDS12583.1	19q13.2	2013-01-29			ENSG00000007306	ENSG00000007306		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	1819	protein-coding gene	gene with protein product	"carcinoembryonic antigen gene family member 2"			CGM2		7806520, 9135022	Standard	XM_005278379		Approved	CEA	uc002ori.1	Q14002	OTTHUMG00000151063	ENST00000006724.3:c.593A>G	19.37:g.42187829T>C	ENSP00000006724:p.Asn198Ser					CEACAM7_ENST00000338196.4_Intron|CEACAM7_ENST00000602225.1_Intron|CEACAM7_ENST00000401731.1_Missense_Mutation_p.N198S	p.N198S	NM_006890.3	NP_008821.1	Q14002	CEAM7_HUMAN		OV - Ovarian serous cystadenocarcinoma(3;0.0027)|all cancers(3;0.00979)|Epithelial(262;0.0366)	3	794	-			198			Ig-like C2-type.		A8K848|O15148|O15149|Q0VAC1|Q13983|Q9UPJ2	Missense_Mutation	SNP	ENST00000006724.3	37	c.593A>G	CCDS12583.1	.	.	.	.	.	.	.	.	.	.	T	11.13	1.548666	0.27652	.	.	ENSG00000007306	ENST00000006724;ENST00000412062;ENST00000401731	T;T	0.11821	2.74;2.74	2.83	2.83	0.33086	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.35393	0.0930	M	0.83384	2.64	0.80722	D	1	D	0.76494	0.999	D	0.85130	0.997	T	0.10941	-1.0608	9	0.87932	D	0	.	7.4806	0.27402	0.0:0.0:0.0:1.0	.	198	Q14002	CEAM7_HUMAN	S	198;177;198	ENSP00000006724:N198S;ENSP00000385932:N198S	ENSP00000006724:N198S	N	-	2	0	CEACAM7	46879669	1.000000	0.71417	0.987000	0.45799	0.037000	0.13140	1.864000	0.39469	1.060000	0.40578	0.260000	0.18958	AAC		0.527	CEACAM7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321145.1	NM_006890		15	144	0	0	0	1	0	15	144					C	42187829	T	C	42187829	3	2	310	1	0	0	0	0	1	0	0	0	3197	1725	60	4	212	4	CEACAM7	19	42187829	Missense_Mutation	SNP	T	TCGA-KK-A6DY-01A-12D-A30X-08		42187829	16941154	36	15976											
DPRX	503834	broad.mit.edu	37	chr19	54137875	54137875	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cttgttcaatgagaacccatAcccaaaccccagccttcaga	13	8	5	15	0	2	2	2	1	0	2	2	3	2	2	5	0	4	1	5	0	4	4			TCGA-KK-A6DY-01A-12D-A30X-08	TCGA-KK-A6DY-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18ee8074-9dce-4718-bedf-7f58f009bffb	0a005527-1b2e-4204-8474-df49da92cb18	g.chr19:54137875A>G	ENST00000376650.1	+	2	170	c.119A>G	c.(118-120)tAc>tGc	p.Y40C		NM_001012728.1	NP_001012746.1	A6NFQ7	DPRX_HUMAN	divergent-paired related homeobox	40					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			endometrium(4)|large_intestine(1)|lung(7)	12	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.013)		GAGAACCCATACCCAAACCCC	0.443																																						ENST00000376650.1																			0				endometrium(4)|large_intestine(1)|lung(7)	12						c.(118-120)tAc>tGc		divergent-paired related homeobox							138	119	125					19																	54137875		2203	4300	6503	SO:0001583	missense	503834					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr19:54137875A>G		CCDS33103.1	19q13.42	2011-06-20			ENSG00000204595	ENSG00000204595		"Homeoboxes / PRD class"	32166	protein-coding gene	gene with protein product		611165					Standard	NM_001012728		Approved		uc002qcf.1	A6NFQ7		ENST00000376650.1:c.119A>G	19.37:g.54137875A>G	ENSP00000365838:p.Tyr40Cys						p.Y40C	NM_001012728.1	NP_001012746.1	A6NFQ7	DPRX_HUMAN		GBM - Glioblastoma multiforme(134;0.013)	2	170	+	Ovarian(34;0.19)		40						Missense_Mutation	SNP	ENST00000376650.1	37	c.119A>G	CCDS33103.1	.	.	.	.	.	.	.	.	.	.	A	18.10	3.548586	0.65311	.	.	ENSG00000204595	ENST00000376650	D	0.97430	-4.38	1.73	1.73	0.24493	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	.	.	.	.	D	0.98645	0.9546	H	0.96805	3.885	0.26875	N	0.96767	D	0.89917	1.0	D	0.91635	0.999	D	0.93294	0.6671	9	0.87932	D	0	.	5.5468	0.17069	1.0:0.0:0.0:0.0	.	40	A6NFQ7	DPRX_HUMAN	C	40	ENSP00000365838:Y40C	ENSP00000365838:Y40C	Y	+	2	0	DPRX	58829687	0.929000	0.31497	0.905000	0.35620	0.958000	0.62258	1.487000	0.35540	1.054000	0.40438	0.454000	0.30748	TAC		0.443	DPRX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409880.1	NM_001012728		15	90	0	0	0	1	0	15	90					G	54137875	A	G	54137875	3	3	310	1	0	0	0	0	1	0	0	0	4738	391	14	4	125	4	DPRX	19	54137875	Missense_Mutation	SNP	A	TCGA-KK-A6DY-01A-12D-A30X-08	11950046	54137875	4991108	37	15977											
TMEM90B	79953	broad.mit.edu	37	chr20	24523910	24523910	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtgggggccagcacagtgccGgccagcctggacagcagcag	8	3	17	13	1	0	0	0	0	0	0	0	1	0	1	4	4	5	3	4	4	0	0			TCGA-KK-A6DY-01A-12D-A30X-08	TCGA-KK-A6DY-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18ee8074-9dce-4718-bedf-7f58f009bffb	0a005527-1b2e-4204-8474-df49da92cb18	g.chr20:24523910G>A	ENST00000376862.3	+	2	810	c.177G>A	c.(175-177)ccG>ccA	p.P59P		NM_024893.1	NP_079169.1	Q9H7V2	SYNG1_HUMAN	synapse differentiation inducing 1	59					intracellular protein transport (GO:0006886)|positive regulation of synapse assembly (GO:0051965)|response to biotic stimulus (GO:0009607)|synaptic vesicle clustering (GO:0097091)	cell body (GO:0044297)|cell junction (GO:0030054)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|early endosome membrane (GO:0031901)|excitatory synapse (GO:0060076)|integral component of plasma membrane (GO:0005887)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	glutamate receptor binding (GO:0035254)|protein homodimerization activity (GO:0042803)			breast(2)|endometrium(1)|large_intestine(3)|lung(14)|prostate(1)|skin(3)	24						GCACAGTGCCGGCCAGCCTGG	0.627																																						ENST00000376862.3																			0				breast(2)|endometrium(1)|large_intestine(3)|lung(14)|prostate(1)|skin(3)	24						c.(175-177)ccG>ccA		synapse differentiation inducing 1							39	44	42					20																	24523910		2203	4299	6502	SO:0001819	synonymous_variant	79953				response to biotic stimulus	early endosome membrane|integral to membrane|plasma membrane		g.chr20:24523910G>A	AK024282	CCDS13164.1	20p11.21	2011-06-30	2011-06-30	2011-06-30	ENSG00000101463	ENSG00000101463			15885	protein-coding gene	gene with protein product	"interferon induced transmembrane protein domain containing 5", "synapse differentiation induced gene 1"	614311	"chromosome 20 open reading frame 39", "transmembrane protein 90B"	C20orf39, TMEM90B		20152115	Standard	NM_024893		Approved	FLJ14220, IFITMD5, SynDIG1	uc002wtw.1	Q9H7V2	OTTHUMG00000032104	ENST00000376862.3:c.177G>A	20.37:g.24523910G>A							p.P59P	NM_024893.1	NP_079169.1	Q9H7V2	SYNG1_HUMAN			2	810	+			59					Q6IA30|Q9H514	Silent	SNP	ENST00000376862.3	37	c.177G>A	CCDS13164.1																																																																																				0.627	SYNDIG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078376.1	NM_024893		5	76	0	0	0	1	0	5	76					A	24523910	G	A	24523910	2	1	310	1	0	0	0	0	0	0	0	1	16216	1103	39	2		2	TMEM90B	20	24523910	Silent	SNP	G	TCGA-KK-A6DY-01A-12D-A30X-08		24523910	38501610	38	15978											
MYO18B	84700	broad.mit.edu	37	chr22	26304380	26304380	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaggaactggaggatgtccGtcagtcctgccagaagcggg	9	6	17	9	2	1	1	1	0	0	1	3	5	3	5	3	5	3	0	3	5	2	0			TCGA-KK-A6DY-01A-12D-A30X-08	TCGA-KK-A6DY-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18ee8074-9dce-4718-bedf-7f58f009bffb	0a005527-1b2e-4204-8474-df49da92cb18	g.chr22:26304380G>A	ENST00000407587.2	+	32	5412	c.5243G>A	c.(5242-5244)cGt>cAt	p.R1748H	MYO18B_ENST00000335473.7_Missense_Mutation_p.R1747H|MYO18B_ENST00000536101.1_Missense_Mutation_p.R1747H			Q8IUG5	MY18B_HUMAN	myosin XVIIIB	1747	Gln-rich.|Tail.					cytoplasm (GO:0005737)|nucleus (GO:0005634)|unconventional myosin complex (GO:0016461)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						GAGGATGTCCGTCAGTCCTGC	0.602																																						ENST00000335473.7																			0				NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						c.(5239-5241)cGt>cAt		myosin XVIIIB							46	58	54					22																	26304380		2120	4233	6353	SO:0001583	missense	84700					nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity	g.chr22:26304380G>A	AJ310931	CCDS54507.1	22q12.1	2011-09-27			ENSG00000133454	ENSG00000133454		"Myosins / Myosin superfamily : Class XVIII"	18150	protein-coding gene	gene with protein product		607295				12209013, 12547197	Standard	NM_032608		Approved	BK125H2.1	uc003abz.1	Q8IUG5	OTTHUMG00000151129	ENST00000407587.2:c.5243G>A	22.37:g.26304380G>A	ENSP00000386096:p.Arg1748His					MYO18B_ENST00000407587.2_Missense_Mutation_p.R1748H|MYO18B_ENST00000536101.1_Missense_Mutation_p.R1747H	p.R1747H	NM_032608.5	NP_115997.5	Q8IUG5	MY18B_HUMAN			32	5490	+			1747			Gln-rich.|Tail.		B2RWP3|F5GYU7|Q8NDI8|Q8TE65|Q8WWS0|Q96KH2|Q96KR8|Q96KR9	Missense_Mutation	SNP	ENST00000407587.2	37	c.5240G>A		.	.	.	.	.	.	.	.	.	.	G	24.6	4.544265	0.86022	.	.	ENSG00000133454	ENST00000536101;ENST00000335473;ENST00000407587	D;D;D	0.90324	-2.64;-2.64;-2.65	5.65	5.65	0.86999	.	0.068151	0.56097	D	0.000025	D	0.94889	0.8348	M	0.72353	2.195	0.40394	D	0.979572	D;D;D;D	0.89917	0.99;0.994;1.0;0.997	P;P;D;P	0.91635	0.715;0.619;0.999;0.788	D	0.95094	0.8224	10	0.59425	D	0.04	.	17.2182	0.86950	0.0:0.0:1.0:0.0	.	1260;1747;1748;1747	Q8IUG5-2;Q8IUG5;F5GXR6;F5GYU7	.;MY18B_HUMAN;.;.	H	1747;1747;1748	ENSP00000441229:R1747H;ENSP00000334563:R1747H;ENSP00000386096:R1748H	ENSP00000334563:R1747H	R	+	2	0	MYO18B	24634380	0.992000	0.36948	0.998000	0.56505	0.999000	0.98932	4.093000	0.57714	2.659000	0.90383	0.655000	0.94253	CGT		0.602	MYO18B-006	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000400691.1	NM_032608		3	9	0	0	0	1	0	3	9					A	26304380	G	A	26304380	3	1	310	1	0	0	0	0	1	0	0	0	10066	1145	40	1	5362	1	MYO18B	22	26304380	Missense_Mutation	SNP	G	TCGA-KK-A6DY-01A-12D-A30X-08		26304380	25000186	39	15979											
MCM5	4174	broad.mit.edu	37	chr22	35811928	35811928	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gggcggagccatggtcctggCcgatggtggggtcgtctgta	4	9	19	9	3	1	0	0	0	1	0	3	2	2	1	3	7	1	1	3	7	1	1			TCGA-KK-A6DY-01A-12D-A30X-08	TCGA-KK-A6DY-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18ee8074-9dce-4718-bedf-7f58f009bffb	0a005527-1b2e-4204-8474-df49da92cb18	g.chr22:35811928C>T	ENST00000216122.4	+	10	1464	c.1310C>T	c.(1309-1311)gCc>gTc	p.A437V	MCM5_ENST00000465557.1_3'UTR|MCM5_ENST00000382011.5_Missense_Mutation_p.A394V	NM_006739.3	NP_006730.2	P33992	MCM5_HUMAN	minichromosome maintenance complex component 5	437	MCM.				DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA strand elongation involved in DNA replication (GO:0006271)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)	MCM complex (GO:0042555)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	29						ATGGTCCTGGCCGATGGTGGG	0.577																																						ENST00000216122.4																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	29						c.(1309-1311)gCc>gTc		minichromosome maintenance complex component 5							225	229	228					22																	35811928		2203	4300	6503	SO:0001583	missense	4174				cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	MCM complex	ATP binding|DNA binding|helicase activity|protein binding	g.chr22:35811928C>T		CCDS13915.1	22q13.1-q13.2	2007-04-04	2007-04-04		ENSG00000100297	ENSG00000100297			6948	protein-coding gene	gene with protein product		602696	"minichromosome maintenance deficient (S. cerevisiae) 5 (cell division cycle 46)", "MCM5 minichromosome maintenance deficient 5, cell division cycle 46 (S. cerevisiae)"	CDC46		8751386, 10591208	Standard	NM_006739		Approved		uc003anu.4	P33992	OTTHUMG00000150961	ENST00000216122.4:c.1310C>T	22.37:g.35811928C>T	ENSP00000216122:p.Ala437Val					MCM5_ENST00000382011.5_Missense_Mutation_p.A394V|MCM5_ENST00000465557.1_3'UTR	p.A437V	NM_006739.3	NP_006730.2	P33992	MCM5_HUMAN			10	1464	+			437			MCM.		O60785|Q14578|Q9BTJ4|Q9BWL8	Missense_Mutation	SNP	ENST00000216122.4	37	c.1310C>T	CCDS13915.1	.	.	.	.	.	.	.	.	.	.	C	34	5.313649	0.95655	.	.	ENSG00000100297	ENST00000216122;ENST00000382011;ENST00000444582	T;T	0.30981	1.51;1.51	5.66	4.64	0.57946	.	0.050691	0.85682	N	0.000000	T	0.71031	0.3292	H	0.98446	4.235	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.78314	0.991;0.991;0.991;0.991	D	0.83580	0.0117	10	0.87932	D	0	-12.5408	14.7639	0.69623	0.0:0.9305:0.0:0.0695	.	437;437;394;437	B1AHB0;Q53FG5;B1AHB1;P33992	.;.;.;MCM5_HUMAN	V	437;394;346	ENSP00000216122:A437V;ENSP00000371441:A394V	ENSP00000216122:A437V	A	+	2	0	MCM5	34141928	1.000000	0.71417	0.879000	0.34478	0.990000	0.78478	4.799000	0.62517	1.396000	0.46663	-0.150000	0.13652	GCC		0.577	MCM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320661.3			5	380	0	0	0	1	0	5	380					T	35811928	C	T	35811928	3	4	310	1	0	0	0	0	1	0	0	0	9390	739	26	3	1344	3	MCM5	22	35811928	Missense_Mutation	SNP	C	TCGA-KK-A6DY-01A-12D-A30X-08	9507548	35811928	15492638	40	15980											
USP26	83844	broad.mit.edu	37	chrX	132159947	132159947	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttaggaggttctttgtgtGcccctgggtgcctggctttg	2	16	14	9	0	2	0	0	0	2	0	2	1	2	1	3	4	2	2	3	4	1	4			TCGA-KK-A6DY-01A-12D-A30X-08	TCGA-KK-A6DY-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18ee8074-9dce-4718-bedf-7f58f009bffb	0a005527-1b2e-4204-8474-df49da92cb18	g.chrX:132159947G>T	ENST00000511190.1	-	6	2771	c.2302C>A	c.(2302-2304)Cac>Aac	p.H768N	USP26_ENST00000370832.1_Missense_Mutation_p.H768N|USP26_ENST00000406273.1_Missense_Mutation_p.H768N	NM_031907.1	NP_114113.1	Q9BXU7	UBP26_HUMAN	ubiquitin specific peptidase 26	768	USP.				protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleus (GO:0005634)	cysteine-type peptidase activity (GO:0008234)|ubiquitinyl hydrolase activity (GO:0036459)			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	60	Acute lymphoblastic leukemia(192;0.000127)					TTCTTTGTGTGCCCCTGGGTG	0.463																																					NSCLC(104;342 1621 36940 47097 52632)	ENST00000511190.1																			0				breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	60						c.(2302-2304)Cac>Aac		ubiquitin specific peptidase 26							94	95	95					X																	132159947		2203	4299	6502	SO:0001583	missense	83844				protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus	cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity	g.chrX:132159947G>T	AF285593	CCDS14635.1	Xq26.2	2012-07-13	2005-08-08		ENSG00000134588	ENSG00000134588	3.4.19.12	"Ubiquitin-specific peptidases"	13485	protein-coding gene	gene with protein product		300309	"ubiquitin specific protease 26"			12838346	Standard	NM_031907		Approved		uc011mvf.2	Q9BXU7	OTTHUMG00000022429	ENST00000511190.1:c.2302C>A	X.37:g.132159947G>T	ENSP00000423390:p.His768Asn					USP26_ENST00000406273.1_Missense_Mutation_p.H768N|USP26_ENST00000370832.1_Missense_Mutation_p.H768N	p.H768N	NM_031907.1	NP_114113.1	Q9BXU7	UBP26_HUMAN			6	2771	-	Acute lymphoblastic leukemia(192;0.000127)		768					B9WRT6|Q5H9H4	Missense_Mutation	SNP	ENST00000511190.1	37	c.2302C>A	CCDS14635.1	.	.	.	.	.	.	.	.	.	.	G	11.93	1.786450	0.31593	.	.	ENSG00000134588	ENST00000370832;ENST00000511190;ENST00000406273	T;T;T	0.52526	0.66;0.66;0.66	4.13	-2.22	0.06952	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	1.052620	0.07540	N	0.913722	T	0.43233	0.1238	L	0.36672	1.1	0.09310	N	1	P	0.37688	0.605	P	0.48141	0.568	T	0.44544	-0.9321	10	0.27785	T	0.31	-0.3194	5.8656	0.18773	0.6034:0.0:0.2472:0.1495	.	768	Q9BXU7	UBP26_HUMAN	N	768	ENSP00000359869:H768N;ENSP00000423390:H768N;ENSP00000384360:H768N	ENSP00000359869:H768N	H	-	1	0	USP26	131987613	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-0.656000	0.05342	-0.721000	0.04929	0.600000	0.82982	CAC		0.463	USP26-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359441.1	NM_031907		7	60	1	0	0.248553	1	0.248553	7	60					T	132159947	G	T	132159947	3	4	310	1	0	0	0	0	1	0	0	0	17054	1319	46	5	442	5	USP26	23	132159947	Missense_Mutation	SNP	G	TCGA-KK-A6DY-01A-12D-A30X-08		132159947	23110613	41	15981											
APOBEC4	403314	broad.mit.edu	37	chr1	183617689	183617689	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tggcccttttgcaccaggctAccagaagaagtttttagttc	9	13	9	10	0	0	2	0	0	0	2	1	2	0	2	3	2	2	4	3	2	4	7			TCGA-KK-A6E0-01A-11D-A30X-08	TCGA-KK-A6E0-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e0f93cb-4c8a-4ac0-849d-2956c14fd8f8	a320937d-7093-4543-b6a9-f0b8137d1255	g.chr1:183617689A>T	ENST00000308641.4	-	2	499	c.228T>A	c.(226-228)ggT>ggA	p.G76G	RGL1_ENST00000304685.4_Intron|RGL1_ENST00000536277.1_Intron|APOBEC4_ENST00000481562.1_Intron	NM_203454.2	NP_982279.1	Q8WW27	ABEC4_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 4 (putative)	76					mRNA processing (GO:0006397)		hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines (GO:0016814)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(6)|skin(1)	21						GCACCAGGCTACCAGAAGAAG	0.388																																						ENST00000308641.4																			0				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(6)|skin(1)	21						c.(226-228)ggT>ggA		apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 4 (putative)							132	138	136					1																	183617689		2203	4300	6503	SO:0001819	synonymous_variant	403314				mRNA processing		hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines|zinc ion binding	g.chr1:183617689A>T	BC021711	CCDS1358.1	1q25.3	2008-02-05	2005-10-27	2005-10-27	ENSG00000173627	ENSG00000173627		"Apolipoprotein B mRNA editing enzymes"	32152	protein-coding gene	gene with protein product		609908	"chromosome 1 open reading frame 169"	C1orf169		16082223	Standard	NM_203454		Approved	MGC26594, FLJ25691, RP1-127C7.4	uc001gqn.3	Q8WW27	OTTHUMG00000035459	ENST00000308641.4:c.228T>A	1.37:g.183617689A>T						RGL1_ENST00000536277.1_Intron|RGL1_ENST00000304685.3_Intron|APOBEC4_ENST00000481562.1_Intron|RGL1_ENST00000367531.1_Intron	p.G76G	NM_203454.2	NP_982279.1	Q8WW27	ABEC4_HUMAN			2	499	-			76					Q8N7F6	Silent	SNP	ENST00000308641.4	37	c.228T>A	CCDS1358.1																																																																																				0.388	APOBEC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086126.1	NM_203454		5	41	0	0	0	1	0	5	41					T	183617689	A	T	183617689	2	4	311	1	0	0	0	0	0	0	0	1	796	378	14	5		5	APOBEC4	1	183617689	Silent	SNP	A	TCGA-KK-A6E0-01A-11D-A30X-08		183617689	65632932	1	15982											
HMCN1	83872	broad.mit.edu	37	chr1	186064439	186064439	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gttctcaaaggtagttccacCtctatggcatgcattactga	10	13	8	10	0	2	1	1	1	2	0	4	1	3	1	2	2	2	5	2	2	4	5			TCGA-KK-A6E0-01A-11D-A30X-08	TCGA-KK-A6E0-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e0f93cb-4c8a-4ac0-849d-2956c14fd8f8	a320937d-7093-4543-b6a9-f0b8137d1255	g.chr1:186064439C>T	ENST00000271588.4	+	68	10588	c.10359C>T	c.(10357-10359)acC>acT	p.T3453T	HMCN1_ENST00000367492.2_Silent_p.T3453T	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	3453	Ig-like C2-type 33.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						GTAGTTCCACCTCTATGGCAT	0.493																																						ENST00000271588.4																			0				NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						c.(10357-10359)acC>acT		hemicentin 1							94	89	91					1																	186064439		2203	4300	6503	SO:0001819	synonymous_variant	83872				response to stimulus|visual perception	basement membrane	calcium ion binding	g.chr1:186064439C>T	AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"Fibulins", "Immunoglobulin superfamily / I-set domain containing"	19194	protein-coding gene	gene with protein product	"fibulin 6"	608548	"age-related macular degeneration 1 (senile macular degeneration)"	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.10359C>T	1.37:g.186064439C>T						HMCN1_ENST00000367492.2_Silent_p.T3453T	p.T3453T	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN			68	10588	+			3453			Ig-like C2-type 33.		A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Silent	SNP	ENST00000271588.4	37	c.10359C>T	CCDS30956.1																																																																																				0.493	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935		9	38	0	0	0	1	0	9	38					T	186064439	C	T	186064439	2	4	311	1	0	0	0	0	0	0	0	1	7220	668	24	3		3	HMCN1	1	186064439	Silent	SNP	C	TCGA-KK-A6E0-01A-11D-A30X-08	2446750	186064439	63186182	2	15983											
USH2A	7399	broad.mit.edu	37	chr1	216260090	216260090	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcctgaggatggtataacttCgcgggagccctcccagaaag	10	8	12	11	2	0	2	0	1	0	1	3	4	2	4	3	3	2	1	3	3	3	3	rs372436408		TCGA-KK-A6E0-01A-11D-A30X-08	TCGA-KK-A6E0-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e0f93cb-4c8a-4ac0-849d-2956c14fd8f8	a320937d-7093-4543-b6a9-f0b8137d1255	g.chr1:216260090C>T	ENST00000307340.3	-	24	5344	c.4958G>A	c.(4957-4959)cGa>cAa	p.R1653Q	RP11-22M7.2_ENST00000445619.1_RNA|RP11-22M7.2_ENST00000446411.1_RNA|RP11-22M7.2_ENST00000442606.1_RNA|USH2A_ENST00000366943.2_Missense_Mutation_p.R1653Q|RP11-22M7.2_ENST00000430890.1_RNA	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	1653	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		GGTATAACTTCGCGGGAGCCC	0.408										HNSCC(13;0.011)																												ENST00000366943.2																			0				NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527						c.(4957-4959)cGa>cAa		Usher syndrome 2A (autosomal recessive, mild)		T	GLN/ARG	0,4406		0,0,2203	60	56	57		4958	-10.4	0	1		57	1,8599	1.2+/-3.3	0,1,4299	no	missense	USH2A	NM_206933.2	43	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	1653/5203	216260090	1,13005	2203	4300	6503	SO:0001583	missense	7399				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	g.chr1:216260090C>T	AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"Fibronectin type III domain containing"	12601	protein-coding gene	gene with protein product	"usherin"	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.4958G>A	1.37:g.216260090C>T	ENSP00000305941:p.Arg1653Gln	HNSCC(13;0.011)				USH2A_ENST00000307340.3_Missense_Mutation_p.R1653Q|RP11-22M7.2_ENST00000445619.1_RNA|RP11-22M7.2_ENST00000442606.1_RNA|RP11-22M7.2_ENST00000446411.1_RNA|RP11-22M7.2_ENST00000430890.1_RNA	p.R1653Q			O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	24	5344	-			1653			Laminin G-like 1.		Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	c.4958G>A	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	c	0.021	-1.431385	0.01117	0.0	1.16E-4	ENSG00000042781	ENST00000307340;ENST00000366943	T;T	0.77098	-1.07;-1.07	5.21	-10.4	0.00318	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Fibronectin, type III (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	1.753140	0.03520	N	0.220810	T	0.42810	0.1219	N	0.02539	-0.55	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.40079	-0.9582	10	0.09843	T	0.71	.	4.1347	0.10166	0.0764:0.2868:0.3096:0.3272	.	1653	O75445	USH2A_HUMAN	Q	1653	ENSP00000305941:R1653Q;ENSP00000355910:R1653Q	ENSP00000305941:R1653Q	R	-	2	0	USH2A	214326713	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.789000	0.04609	-2.889000	0.00316	-3.955000	0.00015	CGA		0.408	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		9	15	0	0	0	1	0	9	15					T	216260090	C	T	216260090	3	4	311	1	0	0	0	0	1	0	0	0	17033	884	31	2	10846	2	USH2A	1	216260090	Missense_Mutation	SNP	C	TCGA-KK-A6E0-01A-11D-A30X-08	30195651	216260090	32990531	3	15984											
PUM2	23369	broad.mit.edu	37	chr2	20463106	20463106	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttataccgaagccgggaaggAggaaagagctggctgctgga	12	6	16	7	2	0	1	0	0	0	1	0	6	0	5	2	5	4	3	2	5	5	2			TCGA-KK-A6E0-01A-11D-A30X-08	TCGA-KK-A6E0-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e0f93cb-4c8a-4ac0-849d-2956c14fd8f8	a320937d-7093-4543-b6a9-f0b8137d1255	g.chr2:20463106A>C	ENST00000361078.2	-	13	2095	c.2073T>G	c.(2071-2073)ccT>ccG	p.P691P	PUM2_ENST00000338086.5_Silent_p.P691P|PUM2_ENST00000403432.1_Silent_p.P691P|PUM2_ENST00000319801.5_Silent_p.P612P|PUM2_ENST00000536417.1_Silent_p.P635P			Q8TB72	PUM2_HUMAN	pumilio RNA-binding family member 2	691					regulation of translation (GO:0006417)|stress granule assembly (GO:0034063)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|nuclear membrane (GO:0031965)|perinuclear region of cytoplasm (GO:0048471)	poly(A) RNA binding (GO:0044822)			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(7)|lung(13)|ovary(2)|prostate(4)|urinary_tract(3)	42	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCCGGGAAGGAGGAAAGAGCT	0.463																																						ENST00000361078.2																			0				breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(7)|lung(13)|ovary(2)|prostate(4)|urinary_tract(3)	42						c.(2071-2073)ccT>ccG		pumilio RNA-binding family member 2							62	63	63					2																	20463106		2203	4300	6503	SO:0001819	synonymous_variant	23369				regulation of translation	perinuclear region of cytoplasm|stress granule	protein binding|RNA binding	g.chr2:20463106A>C	AF315591	CCDS1698.1, CCDS74486.1, CCDS74487.1	2p22-p21	2013-09-02	2013-09-02		ENSG00000055917	ENSG00000055917			14958	protein-coding gene	gene with protein product		607205	"pumilio (Drosphila) homolog 2", "pumilio homolog 2 (Drosophila)"			9039502, 12459267, 12511597	Standard	XM_005262607		Approved	PUMH2, KIAA0235	uc002rds.1	Q8TB72	OTTHUMG00000122098	ENST00000361078.2:c.2073T>G	2.37:g.20463106A>C						PUM2_ENST00000319801.5_Silent_p.P612P|PUM2_ENST00000536417.1_Silent_p.P635P|PUM2_ENST00000338086.5_Silent_p.P691P|PUM2_ENST00000403432.1_Silent_p.P691P	p.P691P			Q8TB72	PUM2_HUMAN			13	2095	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		691					B3KSL0|B4E2B6|D6W527|O00234|Q53TV7|Q8WY43|Q9HAN2	Silent	SNP	ENST00000361078.2	37	c.2073T>G																																																																																					0.463	PUM2-202	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015317		15	30	0	0	0	1	0	15	30					C	20463106	A	C	20463106	2	2	311	1	0	0	0	0	0	0	0	1	12826	291	11	5		5	PUM2	2	20463106	Silent	SNP	A	TCGA-KK-A6E0-01A-11D-A30X-08		20463106	222736267	4	15985											
TMEM87B	84910	broad.mit.edu	37	chr2	112813329	112813329	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gctctggttagagacagtcaAcgacgtaagtggagtgtcgg	10	9	15	7	3	2	1	1	0	1	1	3	4	2	2	0	3	1	3	0	3	3	2			TCGA-KK-A6E0-01A-11D-A30X-08	TCGA-KK-A6E0-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e0f93cb-4c8a-4ac0-849d-2956c14fd8f8	a320937d-7093-4543-b6a9-f0b8137d1255	g.chr2:112813329A>G	ENST00000283206.4	+	1	530	c.161A>G	c.(160-162)aAc>aGc	p.N54S		NM_032824.2	NP_116213.1	Q96K49	TM87B_HUMAN	transmembrane protein 87B	54						integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(11)|ovary(1)	19						GAGACAGTCAACGACGTAAGT	0.711																																						ENST00000283206.4																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(11)|ovary(1)	19						c.(160-162)aAc>aGc		transmembrane protein 87B							14	16	15					2																	112813329		2184	4277	6461	SO:0001583	missense	84910					integral to membrane		g.chr2:112813329A>G	AC092645	CCDS33275.1	2q13	2008-02-05			ENSG00000153214	ENSG00000153214			25913	protein-coding gene	gene with protein product							Standard	NM_032824		Approved	FLJ14681	uc002thm.2	Q96K49	OTTHUMG00000153266	ENST00000283206.4:c.161A>G	2.37:g.112813329A>G	ENSP00000283206:p.Asn54Ser						p.N54S	NM_032824.2	NP_116213.1	Q96K49	TM87B_HUMAN			1	530	+			54					A8K2M9|Q1RLN2|Q53R54	Missense_Mutation	SNP	ENST00000283206.4	37	c.161A>G	CCDS33275.1	.	.	.	.	.	.	.	.	.	.	a	10.13	1.264801	0.23136	.	.	ENSG00000153214	ENST00000283206	.	.	.	3.66	-7.32	0.01436	.	0.634288	0.14786	N	0.298505	T	0.22475	0.0542	L	0.47716	1.5	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.06405	0.002;0.001	T	0.43015	-0.9417	9	0.07325	T	0.83	-1.5524	6.6825	0.23127	0.1949:0.4769:0.3282:0.0	.	54;54	Q96K49-2;Q96K49	.;TM87B_HUMAN	S	54	.	ENSP00000283206:N54S	N	+	2	0	TMEM87B	112529800	0.000000	0.05858	0.164000	0.22755	0.979000	0.70002	-1.082000	0.03400	-0.814000	0.04352	-0.602000	0.04101	AAC		0.711	TMEM87B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330500.1	NM_032824		11	23	0	0	0	1	0	11	23					G	112813329	A	G	112813329	3	3	311	1	0	0	0	0	1	0	0	0	16208	43	2	4	163	4	TMEM87B	2	112813329	Missense_Mutation	SNP	A	TCGA-KK-A6E0-01A-11D-A30X-08	92350223	112813329	130386044	5	15986											
LCT	3938	broad.mit.edu	37	chr2	136569967	136569967	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cactttcccctatgggcatgCcattcccggcaaggtatatt	8	12	8	13	1	0	0	0	0	0	0	2	0	2	0	4	3	1	3	4	3	4	6			TCGA-KK-A6E0-01A-11D-A30X-08	TCGA-KK-A6E0-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e0f93cb-4c8a-4ac0-849d-2956c14fd8f8	a320937d-7093-4543-b6a9-f0b8137d1255	g.chr2:136569967C>T	ENST00000264162.2	-	7	2277	c.2267G>A	c.(2266-2268)gGc>gAc	p.G756D	Y_RNA_ENST00000363794.1_RNA	NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	756	4 X approximate repeats.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	glycosylceramidase activity (GO:0017042)|lactase activity (GO:0000016)	p.G756D(1)		breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)	Vitamin C(DB00126)	TATGGGCATGCCATTCCCGGC	0.438																																						ENST00000264162.2																			1	Substitution - Missense(1)	p.G756D(1)	lung(1)	breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124						c.(2266-2268)gGc>gAc		lactase							98	100	99					2																	136569967		2203	4300	6503	SO:0001583	missense	3938				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity	g.chr2:136569967C>T	X07994	CCDS2178.1	2q21	2014-09-17			ENSG00000115850	ENSG00000115850	3.2.1.108, 3.2.1.62		6530	protein-coding gene	gene with protein product		603202					Standard	NM_002299		Approved		uc002tuu.1	P09848	OTTHUMG00000131738	ENST00000264162.2:c.2267G>A	2.37:g.136569967C>T	ENSP00000264162:p.Gly756Asp						p.G756D	NM_002299.2	NP_002290.2	P09848	LPH_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.169)	7	2277	-			756			4 X approximate repeats.		Q4ZG58	Missense_Mutation	SNP	ENST00000264162.2	37	c.2267G>A	CCDS2178.1	.	.	.	.	.	.	.	.	.	.	C	28.3	4.908857	0.92107	.	.	ENSG00000115850	ENST00000264162;ENST00000455227	D	0.90620	-2.7	5.66	5.66	0.87406	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.000000	0.85682	D	0.000000	D	0.97492	0.9179	H	0.98155	4.16	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98554	1.0638	10	0.87932	D	0	-28.7843	19.76	0.96311	0.0:1.0:0.0:0.0	.	756	P09848	LPH_HUMAN	D	756;188	ENSP00000264162:G756D	ENSP00000264162:G756D	G	-	2	0	LCT	136286437	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.793000	0.85851	2.666000	0.90696	0.655000	0.94253	GGC		0.438	LCT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254657.1	NM_002299		5	59	0	0	0	1	0	5	59					T	136569967	C	T	136569967	3	4	311	1	0	0	0	0	1	0	0	0	8693	739	26	3	3560	3	LCT	2	136569967	Missense_Mutation	SNP	C	TCGA-KK-A6E0-01A-11D-A30X-08	23756638	136569967	106629406	6	15987											
LRP1B	53353	broad.mit.edu	37	chr2	141609267	141609267	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcttcatcaagtgggggcaCgcacaggcagcactcctatt	10	8	11	12	1	2	0	2	0	0	0	3	0	3	0	1	3	2	5	1	3	2	3	rs375820720		TCGA-KK-A6E0-01A-11D-A30X-08	TCGA-KK-A6E0-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e0f93cb-4c8a-4ac0-849d-2956c14fd8f8	a320937d-7093-4543-b6a9-f0b8137d1255	g.chr2:141609267C>T	ENST00000389484.3	-	28	5636	c.4665G>A	c.(4663-4665)gcG>gcA	p.A1555A		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	1555	EGF-like 7. {ECO:0000255|PROSITE- ProRule:PRU00076}.				protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		AGTGGGGGCACGCACAGGCAG	0.413										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	ENST00000389484.3																			0				NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606						c.(4663-4665)gcG>gcA		low density lipoprotein receptor-related protein 1B		T		0,4406		0,0,2203	107	105	106		4665	-11	0	2		106	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	LRP1B	NM_018557.2		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		1555/4600	141609267	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141609267C>T	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"Low density lipoprotein receptors"	6693	protein-coding gene	gene with protein product	"LRP-deleted in tumors"	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.4665G>A	2.37:g.141609267C>T		TSP Lung(27;0.18)					p.A1555A	NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)	28	5636	-		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)	1555					Q8WY29|Q8WY30|Q8WY31	Silent	SNP	ENST00000389484.3	37	c.4665G>A	CCDS2182.1																																																																																				0.413	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		20	33	0	0	0	1	0	20	33					T	141609267	C	T	141609267	2	4	311	1	0	0	0	0	0	0	0	1	8955	523	19	1		1	LRP1B	2	141609267	Silent	SNP	C	TCGA-KK-A6E0-01A-11D-A30X-08	5039300	141609267	101590106	7	15988											
ASB1	51665	broad.mit.edu	37	chr2	239353281	239353281	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aatttggagccaacctgaatCtagtgaagtgggaatcgctg	12	10	12	7	1	1	2	0	2	1	0	2	4	1	4	2	2	2	1	2	2	6	2			TCGA-KK-A6E0-01A-11D-A30X-08	TCGA-KK-A6E0-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e0f93cb-4c8a-4ac0-849d-2956c14fd8f8	a320937d-7093-4543-b6a9-f0b8137d1255	g.chr2:239353281C>T	ENST00000264607.4	+	4	1040	c.793C>T	c.(793-795)Cta>Tta	p.L265L	ASB1_ENST00000409297.1_Silent_p.L164L	NM_001040445.1	NP_001035535.1	Q9Y576	ASB1_HUMAN	ankyrin repeat and SOCS box containing 1	265					intracellular signal transduction (GO:0035556)|male genitalia development (GO:0030539)|negative regulation of cytokine biosynthetic process (GO:0042036)|protein ubiquitination (GO:0016567)	intracellular (GO:0005622)				breast(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1)	8		all_epithelial(40;2.65e-14)|Breast(86;7.61e-05)|Renal(207;0.00183)|all_lung(227;0.0283)|Ovarian(221;0.0365)|Lung NSC(271;0.0941)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;2.04e-26)|OV - Ovarian serous cystadenocarcinoma(60;4.5e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;2.88e-05)|Lung(119;0.000383)|LUSC - Lung squamous cell carcinoma(224;0.00644)		CAACCTGAATCTAGTGAAGTG	0.562																																						ENST00000264607.4																			0				breast(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1)	8						c.(793-795)Cta>Tta		ankyrin repeat and SOCS box containing 1							77	84	82					2																	239353281		2203	4300	6503	SO:0001819	synonymous_variant	51665				intracellular signal transduction|negative regulation of cytokine biosynthetic process			g.chr2:239353281C>T	AF156777	CCDS33416.1	2q37	2013-01-10	2011-01-25		ENSG00000065802	ENSG00000065802		"Ankyrin repeat domain containing"	16011	protein-coding gene	gene with protein product		605758	"ankyrin repeat and SOCS box-containing 1"				Standard	XR_241235		Approved	ASB-1	uc002vyg.3	Q9Y576	OTTHUMG00000152866	ENST00000264607.4:c.793C>T	2.37:g.239353281C>T						ASB1_ENST00000409297.1_Silent_p.L164L	p.L265L	NM_001040445.1	NP_001035535.1	Q9Y576	ASB1_HUMAN		Epithelial(121;2.04e-26)|OV - Ovarian serous cystadenocarcinoma(60;4.5e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;2.88e-05)|Lung(119;0.000383)|LUSC - Lung squamous cell carcinoma(224;0.00644)	4	1040	+		all_epithelial(40;2.65e-14)|Breast(86;7.61e-05)|Renal(207;0.00183)|all_lung(227;0.0283)|Ovarian(221;0.0365)|Lung NSC(271;0.0941)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Hepatocellular(293;0.244)	265					A6NL50|Q4ZG29|Q9ULS4	Silent	SNP	ENST00000264607.4	37	c.793C>T	CCDS33416.1																																																																																				0.562	ASB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328294.1	NM_001040445		24	49	0	0	0	1	0	24	49					T	239353281	C	T	239353281	2	4	311	1	0	0	0	0	0	0	0	1	1013	912	32	3		3	ASB1	2	239353281	Silent	SNP	C	TCGA-KK-A6E0-01A-11D-A30X-08	97744014	239353281	3846092	8	15989											
C3orf72	401089	broad.mit.edu	37	chr3	138669318	138669323	+	In_Frame_Del	DEL	TGAGCG	TGAGCG	-																															acccggcggcttcccgctccTgagcgggagagaatagagct																										TCGA-KK-A6E0-01A-11D-A30X-08	TCGA-KK-A6E0-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e0f93cb-4c8a-4ac0-849d-2956c14fd8f8	a320937d-7093-4543-b6a9-f0b8137d1255	g.chr3:138669318_138669323delTGAGCG	ENST00000383165.3	+	3	563_568	c.432_437delTGAGCG	c.(430-438)cctgagcgg>ccg	p.ER147del		NM_001040061.2	NP_001035150.1	Q6ZUU3	FOXNB_HUMAN		147										large_intestine(1)|lung(3)	4						TTCCCGCTCCTGAGCGGGAGAGAATA	0.626																																						ENST00000383165.3																			0				large_intestine(1)|lung(3)	4						c.(430-438)ccg>cc		chromosome 3 open reading frame 72																																				SO:0001651	inframe_deletion	401089							g.chr3:138669318_138669323delTGAGCG																												ENST00000383165.3:c.432_437delTGAGCG	3.37:g.138669318_138669323delTGAGCG	ENSP00000372651:p.Glu147_Arg148del						p.PER144del	NM_001040061.2	NP_001035150.1	Q6ZUU3	CC072_HUMAN			3	563_568	+			144					A6NGX0	In_Frame_Del	DEL	ENST00000383165.3	37	c.432_437delTGAGCG	CCDS43155.1																																																																																				0.626	C3orf72-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357986.1			17	40						17	40	---	---	---	---	-	138669323	TGAGCG	-	138669318	7	5	311	1	0	1	0	1	0	0	0	0	2244	1567	55	0	442	0	C3orf72	3	138669318	In_Frame_Del	DEL	TGAGCG	TCGA-KK-A6E0-01A-11D-A30X-08		138669318	59353112	9	15990											
ATP13A5	344905	broad.mit.edu	37	chr3	193002807	193002807	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acagtgtggtggtctcaaaaCttaaaattgaaccaggaatc	15	10	9	7	0	1	1	1	1	1	0	3	2	1	2	1	3	2	0	1	3	6	2			TCGA-KK-A6E0-01A-11D-A30X-08	TCGA-KK-A6E0-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e0f93cb-4c8a-4ac0-849d-2956c14fd8f8	a320937d-7093-4543-b6a9-f0b8137d1255	g.chr3:193002807C>A	ENST00000342358.4	-	27	3239	c.3122G>T	c.(3121-3123)aGt>aTt	p.S1041I	ATP13A5_ENST00000495496.1_5'UTR	NM_198505.2	NP_940907.2	Q4VNC0	AT135_HUMAN	ATPase type 13A5	1041						integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)			NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76	all_cancers(143;1.08e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000307)		GGTCTCAAAACTTAAAATTGA	0.393																																						ENST00000342358.4																			0				NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76						c.(3121-3123)aGt>aTt		ATPase type 13A5							126	131	129					3																	193002807		2203	4300	6503	SO:0001583	missense	344905				ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding	g.chr3:193002807C>A	AK122613	CCDS33914.1	3q29	2010-04-20			ENSG00000187527	ENSG00000187527		"ATPases / P-type"	31789	protein-coding gene	gene with protein product							Standard	NM_198505		Approved	FLJ16025	uc011bsq.2	Q4VNC0	OTTHUMG00000156101	ENST00000342358.4:c.3122G>T	3.37:g.193002807C>A	ENSP00000341942:p.Ser1041Ile					ATP13A5_ENST00000495496.1_5'UTR	p.S1041I	NM_198505.2	NP_940907.2	Q4VNC0	AT135_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000307)	27	3239	-	all_cancers(143;1.08e-08)|Ovarian(172;0.0386)		1041					Q6UWS4|Q6ZWL0	Missense_Mutation	SNP	ENST00000342358.4	37	c.3122G>T	CCDS33914.1	.	.	.	.	.	.	.	.	.	.	C	18.44	3.623855	0.66901	.	.	ENSG00000187527	ENST00000342358	T	0.73363	-0.74	5.48	5.48	0.80851	.	0.057592	0.64402	D	0.000001	D	0.84973	0.5591	M	0.84773	2.715	0.36466	D	0.866967	D	0.63046	0.992	D	0.64237	0.923	D	0.89102	0.3490	10	0.72032	D	0.01	-14.3328	10.3095	0.43699	0.0:0.9114:0.0:0.0886	.	1041	Q4VNC0	AT135_HUMAN	I	1041	ENSP00000341942:S1041I	ENSP00000341942:S1041I	S	-	2	0	ATP13A5	194485501	1.000000	0.71417	0.998000	0.56505	0.952000	0.60782	3.463000	0.53050	2.576000	0.86940	0.655000	0.94253	AGT		0.393	ATP13A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343012.1	NM_198505		13	31	1	0	9.31168e-06	1	1.01333e-05	13	31					A	193002807	C	A	193002807	3	1	311	1	0	0	0	0	1	0	0	0	1127	565	20	5	548	5	ATP13A5	3	193002807	Missense_Mutation	SNP	C	TCGA-KK-A6E0-01A-11D-A30X-08	54333489	193002807	5019623	10	15991											
AFM	173	broad.mit.edu	37	chr4	74351740	74351740	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctttccctaccctggatccCgaagagaaatgccaggctta	10	9	8	14	1	0	1	0	0	0	1	2	4	2	2	5	2	2	1	5	2	4	3	rs368964031	byFrequency	TCGA-KK-A6E0-01A-11D-A30X-08	TCGA-KK-A6E0-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e0f93cb-4c8a-4ac0-849d-2956c14fd8f8	a320937d-7093-4543-b6a9-f0b8137d1255	g.chr4:74351740C>T	ENST00000226355.3	+	4	525	c.432C>T	c.(430-432)ccC>ccT	p.P144P		NM_001133.2	NP_001124.1	P43652	AFAM_HUMAN	afamin	144	Albumin 1. {ECO:0000255|PROSITE- ProRule:PRU00769}.				vitamin transport (GO:0051180)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	vitamin E binding (GO:0008431)	p.P144P(1)		breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	Breast(15;0.00102)		Epithelial(6;5.69e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|all cancers(17;0.000555)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			CCCTGGATCCCGAAGAGAAAT	0.388													C|||	2	0.000399361	8e-04	0	5008	,	,		16972	0.001		0	False		,,,				2504	0					ENST00000226355.3																			1	Substitution - coding silent(1)	p.P144P(1)	lung(1)	breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32						c.(430-432)ccC>ccT		afamin		C		0,4406		0,0,2203	88	90	89		432	-4.7	1	4		89	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	AFM	NM_001133.2		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		144/600	74351740	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	173				vitamin transport		vitamin E binding	g.chr4:74351740C>T	L32140	CCDS3557.1	4q13.3	2008-06-11			ENSG00000079557	ENSG00000079557			316	protein-coding gene	gene with protein product		104145				7517938	Standard	NM_001133		Approved	ALB2, ALBA	uc003hhb.3	P43652	OTTHUMG00000130004	ENST00000226355.3:c.432C>T	4.37:g.74351740C>T							p.P144P	NM_001133.2	NP_001124.1	P43652	AFAM_HUMAN	Epithelial(6;5.69e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|all cancers(17;0.000555)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		4	525	+	Breast(15;0.00102)		144			Albumin 1.		A8K3E1|Q32MR3|Q4W5C5	Silent	SNP	ENST00000226355.3	37	c.432C>T	CCDS3557.1																																																																																				0.388	AFM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252275.2			22	45	0	0	0	1	0	22	45					T	74351740	C	T	74351740	2	4	311	1	0	0	0	0	0	0	0	1	361	639	23	2		2	AFM	4	74351740	Silent	SNP	C	TCGA-KK-A6E0-01A-11D-A30X-08		74351740	116802536	11	15992											
C5orf39	389289	broad.mit.edu	37	chr5	43039709	43039709	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagggcaggaggatggcggCgttccaaaaggcacccgctg	9	4	18	10	3	0	0	0	0	0	0	1	3	1	3	2	7	0	4	2	7	2	1			TCGA-KK-A6E0-01A-11D-A30X-08	TCGA-KK-A6E0-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e0f93cb-4c8a-4ac0-849d-2956c14fd8f8	a320937d-7093-4543-b6a9-f0b8137d1255	g.chr5:43039709C>T	ENST00000314890.3	-	2	1859	c.440G>A	c.(439-441)cGc>cAc	p.R147H	AC025171.1_ENST00000451894.2_RNA|AC025171.1_ENST00000505541.1_RNA	NM_001014279.2	NP_001014301.1	Q3ZCQ2	AX2R_HUMAN	annexin A2 receptor	147																	AGGATGGCGGCGTTCCAAAAG	0.622											OREG0016598	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000314890.3																			0											c.(439-441)cGc>cAc		annexin A2 receptor							44	48	47					5																	43039709		2203	4300	6503	SO:0001583	missense	389289						receptor activity	g.chr5:43039709C>T	BC067873	CCDS34153.1	5p12	2013-08-14	2012-03-09	2012-03-09	ENSG00000177721	ENSG00000177721			33463	protein-coding gene	gene with protein product		611296	"chromosome 5 open reading frame 39"	C5orf39		16895901, 18636554	Standard	NM_001014279		Approved	AXIIR	uc003jnf.3	Q3ZCQ2	OTTHUMG00000162232	ENST00000314890.3:c.440G>A	5.37:g.43039709C>T	ENSP00000315915:p.Arg147His		OREG0016598	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	913		p.R147H	NM_001014279.2	NP_001014301.1	Q3ZCQ2	AX2R_HUMAN			2	1859	-			147					Q8NHX5	Missense_Mutation	SNP	ENST00000314890.3	37	c.440G>A	CCDS34153.1	.	.	.	.	.	.	.	.	.	.	C	10.81	1.454475	0.26161	.	.	ENSG00000177721	ENST00000314890	T	0.32272	1.46	3.11	-2.12	0.07165	.	.	.	.	.	T	0.09379	0.0231	N	0.08118	0	0.09310	N	1	P	0.49358	0.923	B	0.34722	0.188	T	0.15464	-1.0436	9	0.42905	T	0.14	.	0.4022	0.00427	0.3317:0.2874:0.1628:0.2181	.	147	Q3ZCQ2	AX2R_HUMAN	H	147	ENSP00000315915:R147H	ENSP00000315915:R147H	R	-	2	0	C5orf39	43075466	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.616000	0.05591	-0.545000	0.06224	0.655000	0.94253	CGC		0.622	ANXA2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368030.1	NM_001014279		7	20	0	0	0	1	0	7	20					T	43039709	C	T	43039709	3	4	311	1	0	0	0	0	1	0	0	0	2297	768	27	1	145	1	C5orf39	5	43039709	Missense_Mutation	SNP	C	TCGA-KK-A6E0-01A-11D-A30X-08		43039709	137875551	12	15993											
ARHGAP26	23092	broad.mit.edu	37	chr5	142264887	142264887	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccaaaaagaagtatgacaaaGagacagaaaagtattgtggc	20	6	10	5	0	0	4	0	1	0	3	0	5	0	4	1	1	0	2	1	1	8	3			TCGA-KK-A6E0-01A-11D-A30X-08	TCGA-KK-A6E0-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e0f93cb-4c8a-4ac0-849d-2956c14fd8f8	a320937d-7093-4543-b6a9-f0b8137d1255	g.chr5:142264887G>C	ENST00000274498.4	+	5	787	c.409G>C	c.(409-411)Gag>Cag	p.E137Q	ARHGAP26_ENST00000378004.3_Missense_Mutation_p.E137Q	NM_015071.4	NP_055886.1	Q9UNA1	RHG26_HUMAN	Rho GTPase activating protein 26	137					actin cytoskeleton organization (GO:0030036)|filopodium assembly (GO:0046847)|nervous system development (GO:0007399)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell junction (GO:0030054)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)	phospholipid binding (GO:0005543)|Rho GTPase activator activity (GO:0005100)			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(7)|ovary(1)	25		all_hematologic(541;0.0416)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GTATGACAAAGAGACAGAAAA	0.358																																						ENST00000378004.3																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(7)|ovary(1)	25						c.(409-411)Gag>Cag		Rho GTPase activating protein 26							102	112	109					5																	142264887		2203	4300	6503	SO:0001583	missense	23092				actin cytoskeleton organization|filopodium assembly|nervous system development|small GTPase mediated signal transduction	cytoskeleton|cytosol|focal adhesion	cytoskeletal adaptor activity|Rho GTPase activator activity|SH3 domain binding	g.chr5:142264887G>C	AB014521	CCDS4277.1, CCDS47297.1	5q31	2011-06-29			ENSG00000145819	ENSG00000145819		"Rho GTPase activating proteins"	17073	protein-coding gene	gene with protein product	"GTPase regulator associated with the focal adhesion kinase pp125"	605370				9858476, 8649427	Standard	NM_001135608		Approved	GRAF, KIAA0621, OPHN1L, OPHN1L1	uc011dbj.2	Q9UNA1	OTTHUMG00000059705	ENST00000274498.4:c.409G>C	5.37:g.142264887G>C	ENSP00000274498:p.Glu137Gln					ARHGAP26_ENST00000274498.4_Missense_Mutation_p.E137Q	p.E137Q	NM_001135608.1	NP_001129080.1	Q9UNA1	RHG26_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		5	764	+		all_hematologic(541;0.0416)	137					O75117|Q5D035|Q9BYS6|Q9BYS7|Q9UJ00	Missense_Mutation	SNP	ENST00000274498.4	37	c.409G>C	CCDS4277.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.187135	0.78789	.	.	ENSG00000145819	ENST00000274498;ENST00000378004;ENST00000378013	T;T;T	0.34667	1.35;1.35;1.35	5.9	5.9	0.94986	IRSp53/MIM homology domain (IMD) (2);	0.000000	0.85682	D	0.000000	T	0.54935	0.1889	L	0.50333	1.59	0.80722	D	1	D;B	0.89917	1.0;0.207	D;B	0.81914	0.995;0.237	T	0.32981	-0.9886	10	0.19147	T	0.46	.	19.8673	0.96808	0.0:0.0:1.0:0.0	.	137;137	Q9UNA1;Q9UNA1-2	RHG26_HUMAN;.	Q	137;137;109	ENSP00000274498:E137Q;ENSP00000367243:E137Q;ENSP00000367252:E109Q	ENSP00000274498:E137Q	E	+	1	0	ARHGAP26	142245071	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.325000	0.96381	2.793000	0.96121	0.563000	0.77884	GAG		0.358	ARHGAP26-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000132744.3	NM_015071		13	42	0	0	0	1	0	13	42					C	142264887	G	C	142264887	3	2	311	1	0	0	0	0	1	0	0	0	875	943	33	5	427	5	ARHGAP26	5	142264887	Missense_Mutation	SNP	G	TCGA-KK-A6E0-01A-11D-A30X-08	99225178	142264887	38650373	13	15994											
FAM71B	153745	broad.mit.edu	37	chr5	156590271	156590271	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctaataccctctgaggatatGttggcagcacctgccatgga	10	10	10	11	0	1	1	0	1	1	0	1	3	1	3	3	3	3	3	3	3	3	4			TCGA-KK-A6E0-01A-11D-A30X-08	TCGA-KK-A6E0-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e0f93cb-4c8a-4ac0-849d-2956c14fd8f8	a320937d-7093-4543-b6a9-f0b8137d1255	g.chr5:156590271G>T	ENST00000302938.4	-	2	1100	c.1005C>A	c.(1003-1005)aaC>aaA	p.N335K		NM_130899.2	NP_570969.2	Q8TC56	FA71B_HUMAN	family with sequence similarity 71, member B	335						nucleus (GO:0005634)				NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CTGAGGATATGTTGGCAGCAC	0.567																																						ENST00000302938.4																			0				NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68						c.(1003-1005)aaC>aaA		family with sequence similarity 71, member B							107	104	105					5																	156590271		2203	4300	6503	SO:0001583	missense	153745					nucleus		g.chr5:156590271G>T		CCDS4335.1	5q33.3	2005-08-09			ENSG00000170613	ENSG00000170613			28397	protein-coding gene	gene with protein product						12477932	Standard	NM_130899		Approved	MGC26988	uc003lwn.3	Q8TC56	OTTHUMG00000130246	ENST00000302938.4:c.1005C>A	5.37:g.156590271G>T	ENSP00000305596:p.Asn335Lys						p.N335K	NM_130899.2	NP_570969.2	Q8TC56	FA71B_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		2	1100	-	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	335					Q1EDD9|Q8TC64|Q96LY8	Missense_Mutation	SNP	ENST00000302938.4	37	c.1005C>A	CCDS4335.1	.	.	.	.	.	.	.	.	.	.	G	5.605	0.296311	0.10622	.	.	ENSG00000170613	ENST00000302938	T	0.03468	3.92	3.76	0.752	0.18398	.	0.588289	0.15303	N	0.269537	T	0.02727	0.0082	L	0.41824	1.3	0.09310	N	1	B	0.23128	0.08	B	0.15484	0.013	T	0.48317	-0.9046	10	0.09338	T	0.73	-8.9582	5.9315	0.19142	0.3824:0.0:0.6176:0.0	.	335	Q8TC56	FA71B_HUMAN	K	335	ENSP00000305596:N335K	ENSP00000305596:N335K	N	-	3	2	FAM71B	156522849	0.000000	0.05858	0.000000	0.03702	0.039000	0.13416	-0.378000	0.07446	0.129000	0.18514	-0.367000	0.07326	AAC		0.567	FAM71B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252570.2	NM_130899		28	69	1	0	1.7881e-09	1	2.00484e-09	28	69					T	156590271	G	T	156590271	3	4	311	1	0	0	0	0	1	0	0	0	5608	1368	48	5	816	5	FAM71B	5	156590271	Missense_Mutation	SNP	G	TCGA-KK-A6E0-01A-11D-A30X-08	14325384	156590271	24324989	14	15995											
ZBTB2	57621	broad.mit.edu	37	chr6	151687732	151687732	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtctgtggccgtggatctcGcccgagtttttcaggtgctg	3	13	15	10	3	3	0	1	0	2	0	4	2	3	1	2	4	1	2	2	4	0	2			TCGA-KK-A6E0-01A-11D-A30X-08	TCGA-KK-A6E0-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e0f93cb-4c8a-4ac0-849d-2956c14fd8f8	a320937d-7093-4543-b6a9-f0b8137d1255	g.chr6:151687732G>A	ENST00000325144.4	-	3	609	c.469C>T	c.(469-471)Cga>Tga	p.R157*		NM_020861.1	NP_065912.1	Q8N680	ZBTB2_HUMAN	zinc finger and BTB domain containing 2	157					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|large_intestine(2)|lung(6)|skin(1)	12			BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.63e-11)		CGTGGATCTCGCCCGAGTTTT	0.532																																						ENST00000325144.4																			0				breast(1)|endometrium(2)|large_intestine(2)|lung(6)|skin(1)	12						c.(469-471)Cga>Tga		zinc finger and BTB domain containing 2							95	95	95					6																	151687732		2203	4300	6503	SO:0001587	stop_gained	57621				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:151687732G>A	BC020172	CCDS5231.1	6q25.1	2013-01-09			ENSG00000181472	ENSG00000181472		"-", "BTB/POZ domain containing", "Zinc fingers, C2H2-type"	20868	protein-coding gene	gene with protein product						10819331	Standard	NM_020861		Approved	KIAA1483, ZNF437, bA351K16.2	uc003qoh.3	Q8N680	OTTHUMG00000015834	ENST00000325144.4:c.469C>T	6.37:g.151687732G>A	ENSP00000323183:p.Arg157*						p.R157*	NM_020861.1	NP_065912.1	Q8N680	ZBTB2_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.63e-11)	3	609	-			157					A8K7C7|Q5SZ81|Q9P245	Nonsense_Mutation	SNP	ENST00000325144.4	37	c.469C>T	CCDS5231.1	.	.	.	.	.	.	.	.	.	.	G	27.1	4.795866	0.90453	.	.	ENSG00000181472	ENST00000325144	.	.	.	5.35	4.45	0.53987	.	0.340718	0.27976	N	0.017095	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-18.05	15.3813	0.74658	0.0:0.0:0.8506:0.1493	.	.	.	.	X	157	.	ENSP00000323183:R157X	R	-	1	2	ZBTB2	151729425	1.000000	0.71417	0.528000	0.27938	0.890000	0.51754	4.921000	0.63397	1.173000	0.42796	0.561000	0.74099	CGA		0.532	ZBTB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042715.1	NM_020861		20	42	0	0	0	1	0	20	42					A	151687732	G	A	151687732	4	1	311	1	0	0	0	0	0	1	0	0	17525	1095	38	1	1079	1	ZBTB2	6	151687732	Nonsense_Mutation	SNP	G	TCGA-KK-A6E0-01A-11D-A30X-08		151687732	19427335	15	15996											
C7orf58	79974	broad.mit.edu	37	chr7	120768459	120768459	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gaaaactatcaaaaggaactAaatcagtgtctgtccttaga	17	10	7	7	0	3	1	2	0	1	1	4	3	4	2	1	1	2	0	1	1	9	3			TCGA-KK-A6E0-01A-11D-A30X-08	TCGA-KK-A6E0-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e0f93cb-4c8a-4ac0-849d-2956c14fd8f8	a320937d-7093-4543-b6a9-f0b8137d1255	g.chr7:120768459A>C	ENST00000310396.5	+	11	1793	c.1326A>C	c.(1324-1326)ctA>ctC	p.L442L	CPED1_ENST00000423795.1_Silent_p.L222L|CPED1_ENST00000450913.2_Silent_p.L442L	NM_024913.4	NP_079189.4	A4D0V7	CPED1_HUMAN	cadherin-like and PC-esterase domain containing 1	442						endoplasmic reticulum (GO:0005783)											AAAAGGAACTAAATCAGTGTC	0.358																																						ENST00000310396.5																			0											c.(1324-1326)ctA>ctC		cadherin-like and PC-esterase domain containing 1							87	88	88					7																	120768459		2203	4300	6503	SO:0001819	synonymous_variant	79974							g.chr7:120768459A>C		CCDS34739.1, CCDS47690.1	7q31.31	2012-06-12	2012-06-12	2012-06-12	ENSG00000106034	ENSG00000106034			26159	protein-coding gene	gene with protein product			"chromosome 7 open reading frame 58"	C7orf58		20056006	Standard	NM_024913		Approved	FLJ21986	uc003vjq.4	A4D0V7	OTTHUMG00000156982	ENST00000310396.5:c.1326A>C	7.37:g.120768459A>C						CPED1_ENST00000423795.1_Silent_p.L222L|CPED1_ENST00000450913.2_Silent_p.L442L	p.L442L	NM_024913.4	NP_079189.4					11	1793	+								A8K1R3|Q6UXT1|Q86T76|Q86T84|Q8N2T5|Q96NC9	Silent	SNP	ENST00000310396.5	37	c.1326A>C	CCDS34739.1																																																																																				0.358	CPED1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346959.1	NM_024913		13	29	0	0	0	1	0	13	29					C	120768459	A	C	120768459	2	2	311	1	0	0	0	0	0	0	0	1	2405	349	13	5		5	C7orf58	7	120768459	Silent	SNP	A	TCGA-KK-A6E0-01A-11D-A30X-08		120768459	38370204	16	15997											
DENND2A	27147	broad.mit.edu	37	chr7	140285506	140285506	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taagggttctccttcattggCggatctgtgttcaaaggcaa	9	13	11	8	1	4	0	2	0	2	0	5	1	4	1	1	4	0	3	1	4	3	5			TCGA-KK-A6E0-01A-11D-A30X-08	TCGA-KK-A6E0-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e0f93cb-4c8a-4ac0-849d-2956c14fd8f8	a320937d-7093-4543-b6a9-f0b8137d1255	g.chr7:140285506C>T	ENST00000275884.6	-	4	1545	c.1128G>A	c.(1126-1128)ccG>ccA	p.P376P	DENND2A_ENST00000492720.1_Silent_p.P376P|DENND2A_ENST00000537639.1_Silent_p.P376P|DENND2A_ENST00000496613.1_Silent_p.P376P			Q9ULE3	DEN2A_HUMAN	DENN/MADD domain containing 2A	376					positive regulation of Rab GTPase activity (GO:0032851)|protein transport (GO:0015031)|retrograde transport, endosome to Golgi (GO:0042147)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(22)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49	Melanoma(164;0.00956)					CCTTCATTGGCGGATCTGTGT	0.488																																						ENST00000275884.6																			0				breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(22)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49						c.(1126-1128)ccG>ccA		DENN/MADD domain containing 2A							154	152	153					7																	140285506		1970	4168	6138	SO:0001819	synonymous_variant	27147							g.chr7:140285506C>T	AB033103	CCDS43659.1	7q34	2012-10-03	2005-08-17	2005-08-17	ENSG00000146966	ENSG00000146966		"DENN/MADD domain containing"	22212	protein-coding gene	gene with protein product			"KIAA1277"	KIAA1277			Standard	NM_015689		Approved	FAM31D	uc010lnj.3	Q9ULE3	OTTHUMG00000157411	ENST00000275884.6:c.1128G>A	7.37:g.140285506C>T						DENND2A_ENST00000492720.1_Silent_p.P376P|DENND2A_ENST00000496613.1_Silent_p.P376P|DENND2A_ENST00000537639.1_Silent_p.P376P	p.P376P			Q9ULE3	DEN2A_HUMAN			4	1545	-	Melanoma(164;0.00956)		376					C9JUI3|Q1RMD5|Q86XY0	Silent	SNP	ENST00000275884.6	37	c.1128G>A	CCDS43659.1																																																																																				0.488	DENND2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348742.1	NM_015689		4	109	0	0	0	1	0	4	109					T	140285506	C	T	140285506	2	4	311	1	0	0	0	0	0	0	0	1	4429	755	27	1		1	DENND2A	7	140285506	Silent	SNP	C	TCGA-KK-A6E0-01A-11D-A30X-08	19517047	140285506	18853157	17	15998											
VCPIP1	80124	broad.mit.edu	37	chr8	67579179	67579179	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcaacggaggcggcggcggCggcggctgagacatagctcc	7	3	19	12	6	0	1	0	1	0	1	1	3	1	2	1	8	2	3	1	8	2	1			TCGA-KK-A6E0-01A-11D-A30X-08	TCGA-KK-A6E0-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e0f93cb-4c8a-4ac0-849d-2956c14fd8f8	a320937d-7093-4543-b6a9-f0b8137d1255	g.chr8:67579179C>A	ENST00000310421.4	-	1	273	c.15G>T	c.(13-15)ccG>ccT	p.P5P	C8orf44-SGK3_ENST00000519289.1_5'Flank|C8orf44_ENST00000521889.1_5'Flank|C8orf44_ENST00000519561.1_5'Flank	NM_025054.4	NP_079330.2	Q96JH7	VCIP1_HUMAN	valosin containing protein (p97)/p47 complex interacting protein 1	5	Pro-rich.				endoplasmic reticulum membrane fusion (GO:0016320)|Golgi reassembly (GO:0090168)|mitotic nuclear division (GO:0007067)|protein K11-linked deubiquitination (GO:0035871)|protein K48-linked deubiquitination (GO:0071108)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)	ubiquitin-specific protease activity (GO:0004843)			breast(7)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(6)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		Lung NSC(129;0.142)|all_lung(136;0.227)	Epithelial(68;0.000771)|OV - Ovarian serous cystadenocarcinoma(28;0.00248)|all cancers(69;0.00296)|BRCA - Breast invasive adenocarcinoma(89;0.149)			gcggcggcggcggcggcTGAG	0.692																																					NSCLC(179;265 2915 6144 43644)	ENST00000310421.4																			0				breast(7)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(6)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						c.(13-15)ccG>ccT		valosin containing protein (p97)/p47 complex interacting protein 1							4	6	6					8																	67579179		1746	3665	5411	SO:0001819	synonymous_variant	80124				protein ubiquitination	endoplasmic reticulum|Golgi stack	ubiquitin-specific protease activity	g.chr8:67579179C>A	AB058753	CCDS6192.1	8q13	2014-02-24			ENSG00000175073	ENSG00000175073		"OTU domain containing"	30897	protein-coding gene	gene with protein product		611745				11347906, 12509440	Standard	NM_025054		Approved	VCIP135, KIAA1850, FLJ23132, DUBA3	uc003xwn.3	Q96JH7	OTTHUMG00000164560	ENST00000310421.4:c.15G>T	8.37:g.67579179C>A							p.P5P	NM_025054.4	NP_079330.2	Q96JH7	VCIP1_HUMAN	Epithelial(68;0.000771)|OV - Ovarian serous cystadenocarcinoma(28;0.00248)|all cancers(69;0.00296)|BRCA - Breast invasive adenocarcinoma(89;0.149)		1	273	-		Lung NSC(129;0.142)|all_lung(136;0.227)	5			Pro-rich.		Q504T4|Q86T93|Q86W01|Q8N3A9|Q9H5R8	Silent	SNP	ENST00000310421.4	37	c.15G>T	CCDS6192.1																																																																																				0.692	VCPIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379227.1			4	13	1	0	0.00909568	1	0.00934834	4	13					A	67579179	C	A	67579179	2	1	311	1	0	0	0	0	0	0	0	1	17138	755	27	5		5	VCPIP1	8	67579179	Silent	SNP	C	TCGA-KK-A6E0-01A-11D-A30X-08		67579179	78784843	18	15999											
GTF3C5	9328	broad.mit.edu	37	chr9	135926319	135926319	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcccagacgtggaggagagTctgcactaaccccgtggacc	10	5	13	13	2	1	2	0	0	1	2	1	5	1	4	4	3	3	1	4	3	1	1			TCGA-KK-A6E0-01A-11D-A30X-08	TCGA-KK-A6E0-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e0f93cb-4c8a-4ac0-849d-2956c14fd8f8	a320937d-7093-4543-b6a9-f0b8137d1255	g.chr9:135926319T>C	ENST00000372097.5	+	4	1045	c.722T>C	c.(721-723)gTc>gCc	p.V241A	GTF3C5_ENST00000342018.8_Intron|GTF3C5_ENST00000372108.5_Missense_Mutation_p.V241A|GTF3C5_ENST00000372099.6_Missense_Mutation_p.V232A|GTF3C5_ENST00000372095.5_Missense_Mutation_p.V116A	NM_012087.3	NP_036219.2	Q9Y5Q8	TF3C5_HUMAN	general transcription factor IIIC, polypeptide 5, 63kDa	241					5S class rRNA transcription from RNA polymerase III type 1 promoter (GO:0042791)|gene expression (GO:0010467)|skeletal muscle cell differentiation (GO:0035914)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)|tRNA transcription from RNA polymerase III promoter (GO:0042797)	nucleoplasm (GO:0005654)|transcription factor TFIIIC complex (GO:0000127)	DNA binding (GO:0003677)			endometrium(5)|kidney(1)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)	21				OV - Ovarian serous cystadenocarcinoma(145;4.01e-06)|Epithelial(140;4e-05)		TGGAGGAGAGTCTGCACTAAC	0.642																																						ENST00000372097.5																			0				endometrium(5)|kidney(1)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)	21						c.(721-723)gTc>gCc		general transcription factor IIIC, polypeptide 5, 63kDa							38	32	34					9																	135926319		2203	4300	6503	SO:0001583	missense	9328					transcription factor TFIIIC complex	DNA binding|protein binding	g.chr9:135926319T>C	AF133124	CCDS6958.1, CCDS48050.1, CCDS75927.1	9q34.13	2010-03-23	2002-08-29		ENSG00000148308	ENSG00000148308		"General transcription factors"	4668	protein-coding gene	gene with protein product	"transcription factor IIIC, 63 kD"	604890	"general transcription factor IIIC, polypeptide 5 (63kD)"			10373544	Standard	NM_012087		Approved	TFiiiC2-63, TFIIIC63, TFIIICepsilon	uc004ccj.4	Q9Y5Q8	OTTHUMG00000020856	ENST00000372097.5:c.722T>C	9.37:g.135926319T>C	ENSP00000361169:p.Val241Ala					GTF3C5_ENST00000342018.8_Intron|GTF3C5_ENST00000372099.6_Missense_Mutation_p.V232A|GTF3C5_ENST00000372095.5_Missense_Mutation_p.V116A|GTF3C5_ENST00000372108.5_Missense_Mutation_p.V241A	p.V241A	NM_012087.3	NP_036219.2	Q9Y5Q8	TF3C5_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;4.01e-06)|Epithelial(140;4e-05)	4	1045	+			241					A6NI44|A6NJB9|Q5T7U2|Q5T7U3|Q8N2U7|Q8N857|Q96GD9|Q9H4P2	Missense_Mutation	SNP	ENST00000372097.5	37	c.722T>C	CCDS6958.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	11.04|11.04	1.523256|1.523256	0.27299|0.27299	.|.	.|.	ENSG00000148308|ENSG00000148308	ENST00000434175|ENST00000372097;ENST00000440319;ENST00000372099;ENST00000372095;ENST00000372089;ENST00000372108;ENST00000439697	.|T;T;T	.|0.46063	.|0.88;0.89;0.89	5.21|5.21	4.08|4.08	0.47627|0.47627	.|.	.|0.615435	.|0.16566	.|N	.|0.208830	T|T	0.29093|0.29093	0.0723|0.0723	L|L	0.38838|0.38838	1.175|1.175	0.09310|0.09310	N|N	1|1	.|B;B;B	.|0.24092	.|0.097;0.004;0.01	.|B;B;B	.|0.20184	.|0.028;0.009;0.015	T|T	0.19582|0.19582	-1.0301|-1.0301	5|10	.|0.18710	.|T	.|0.47	-2.9775|-2.9775	7.5846|7.5846	0.27985|0.27985	0.0:0.1164:0.0:0.8836|0.0:0.1164:0.0:0.8836	.|.	.|116;241;241	.|B7Z1V3;Q9Y5Q8-3;Q9Y5Q8	.|.;.;TF3C5_HUMAN	P|A	13|241;194;232;116;91;241;116	.|ENSP00000361169:V241A;ENSP00000361171:V232A;ENSP00000361180:V241A	.|ENSP00000361161:V91A	S|V	+|+	1|2	0|0	GTF3C5|GTF3C5	134916140|134916140	0.031000|0.031000	0.19500|0.19500	0.042000|0.042000	0.18584|0.18584	0.636000|0.636000	0.38137|0.38137	2.219000|2.219000	0.42899|0.42899	0.831000|0.831000	0.34780|0.34780	0.379000|0.379000	0.24179|0.24179	TCT|GTC		0.642	GTF3C5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054826.1	NM_001122823		7	20	0	0	0	1	0	7	20					C	135926319	T	C	135926319	3	2	311	1	0	0	0	0	1	0	0	0	6876	1667	58	4	736	4	GTF3C5	9	135926319	Missense_Mutation	SNP	T	TCGA-KK-A6E0-01A-11D-A30X-08		135926319	5287112	19	16000											
ADAMTS14	140766	broad.mit.edu	37	chr10	72503837	72503837	+	Frame_Shift_Del	DEL	A	A	-																															ctcagcctgtcggctgtgacAaggaggtggggtccatgaag																										TCGA-KK-A6E0-01A-11D-A30X-08	TCGA-KK-A6E0-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e0f93cb-4c8a-4ac0-849d-2956c14fd8f8	a320937d-7093-4543-b6a9-f0b8137d1255	g.chr10:72503837delA	ENST00000373207.1	+	14	2074	c.2074delA	c.(2074-2076)aagfs	p.K692fs	ADAMTS14_ENST00000373208.1_Frame_Shift_Del_p.K695fs	NM_080722.3	NP_542453.2	Q8WXS8	ATS14_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 14	692	Cys-rich.				collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(15)|ovary(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						CGGCTGTGACAAGGAGGTGGG	0.667																																						ENST00000373208.1																			0				NS(1)|autonomic_ganglia(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(15)|ovary(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						c.(2083-2085)agfs		ADAM metallopeptidase with thrombospondin type 1 motif, 14							27	24	25					10																	72503837		2195	4289	6484	SO:0001589	frameshift_variant	140766				collagen catabolic process|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr10:72503837delA	AF358666	CCDS7306.1, CCDS7307.1	10q21	2008-08-01	2005-08-19		ENSG00000138316	ENSG00000138316		"ADAM metallopeptidases with thrombospondin type 1 motif"	14899	protein-coding gene	gene with protein product		607506	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 14"			11779638	Standard	NM_139155		Approved		uc001jrg.3	Q8WXS8	OTTHUMG00000018414	ENST00000373207.1:c.2074delA	10.37:g.72503837delA	ENSP00000362303:p.Lys692fs					ADAMTS14_ENST00000373207.1_Frame_Shift_Del_p.K692fs	p.K695fs	NM_139155.2	NP_631894.2	Q8WXS8	ATS14_HUMAN			14	2083	+			692			Cys-rich.		Q5T4G0|Q5T4G1|Q8TE55|Q8TEY8	Frame_Shift_Del	DEL	ENST00000373207.1	37	c.2083delA	CCDS7306.1																																																																																				0.667	ADAMTS14-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000048522.1	NM_080722		2	4						2	4	---	---	---	---	-	72503837	A	-	72503837	7	5	311	1	0	1	0	1	0	0	0	0	259	131	5	0	2137	0	ADAMTS14	10	72503837	Frame_Shift_Del	DEL	A	TCGA-KK-A6E0-01A-11D-A30X-08		72503837	63030910	20	16001											
SLC5A12	159963	broad.mit.edu	37	chr11	26725366	26725366	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atatgtagtcgagatccattTgttgattgctctaatacatt	11	17	7	6	1	1	2	0	1	1	1	3	3	2	2	1	0	2	3	1	0	4	8			TCGA-KK-A6E0-01A-11D-A30X-08	TCGA-KK-A6E0-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e0f93cb-4c8a-4ac0-849d-2956c14fd8f8	a320937d-7093-4543-b6a9-f0b8137d1255	g.chr11:26725366T>C	ENST00000396005.3	-	5	963	c.654A>G	c.(652-654)acA>acG	p.T218T	SLC5A12_ENST00000280467.6_Silent_p.T218T	NM_178498.3	NP_848593.2	Q1EHB4	SC5AC_HUMAN	solute carrier family 5 (sodium/monocarboxylate cotransporter), member 12	218					sodium ion transport (GO:0006814)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	symporter activity (GO:0015293)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)	35						GAGATCCATTTGTTGATTGCT	0.358																																						ENST00000396005.3																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)	35						c.(652-654)acA>acG		solute carrier family 5 (sodium/monocarboxylate cotransporter), member 12							230	218	222					11																	26725366		2203	4299	6502	SO:0001819	synonymous_variant	159963				sodium ion transport	apical plasma membrane|integral to membrane	symporter activity	g.chr11:26725366T>C	BC049207	CCDS7860.2	11p14.2	2013-07-19	2013-07-19		ENSG00000148942	ENSG00000148942		"Solute carriers"	28750	protein-coding gene	gene with protein product		612455	"solute carrier family 5 (sodium/glucose cotransporter), member 12"			12477932	Standard	NM_178498		Approved	MGC52019, SMCT2	uc001mra.2	Q1EHB4	OTTHUMG00000150706	ENST00000396005.3:c.654A>G	11.37:g.26725366T>C						SLC5A12_ENST00000280467.6_Silent_p.T218T	p.T218T	NM_178498.3	NP_848593.2	Q1EHB4	SC5AC_HUMAN			5	963	-			218					Q86UC7	Silent	SNP	ENST00000396005.3	37	c.654A>G	CCDS7860.2																																																																																				0.358	SLC5A12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319681.1	NM_178498		40	73	0	0	0	1	0	40	73					C	26725366	T	C	26725366	2	2	311	1	0	0	0	0	0	0	0	1	14664	1799	63	4		4	SLC5A12	11	26725366	Silent	SNP	T	TCGA-KK-A6E0-01A-11D-A30X-08		26725366	108281150	21	16002											
TMEM132A	54972	broad.mit.edu	37	chr11	60702905	60702905	+	Missense_Mutation	SNP	C	C	A																															ggcacagtcagcccttcccgCcccaaagcaggtgacagttg																										TCGA-KK-A6E0-01A-11D-A30X-08	TCGA-KK-A6E0-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e0f93cb-4c8a-4ac0-849d-2956c14fd8f8	a320937d-7093-4543-b6a9-f0b8137d1255	g.chr11:60702905C>A	ENST00000453848.2	+	10	2176	c.2018C>A	c.(2017-2019)gCc>gAc	p.A673D	TMEM132A_ENST00000005286.4_Missense_Mutation_p.A674D			Q24JP5	T132A_HUMAN	transmembrane protein 132A	673	Binds to HSPA5/GRP78. {ECO:0000250}.|Confers cellular localization similar to full-length form. {ECO:0000250}.					endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|prostate(1)|skin(3)	32						GCCCTTCCCGCCCCAAAGCAG	0.642																																						ENST00000005286.4																			0				breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|prostate(1)|skin(3)	32						c.(2020-2022)gCc>gAc		transmembrane protein 132A							17	16	16					11																	60702905		2201	4294	6495	SO:0001583	missense	54972					endoplasmic reticulum membrane|Golgi membrane|integral to membrane		g.chr11:60702905C>A	AK000546	CCDS7997.1, CCDS44618.1	11q12.2	2006-03-02	2006-03-02	2006-03-02	ENSG00000006118	ENSG00000006118			31092	protein-coding gene	gene with protein product			"heat shock 70kDa protein 5 (glucose-regulated protein, 78kDa) binding protein 1"	HSPA5BP1		12514190, 10997877	Standard	NM_017870		Approved	GBP, FLJ20539	uc001nqi.3	Q24JP5	OTTHUMG00000167803	ENST00000453848.2:c.2018C>A	11.37:g.60702905C>A	ENSP00000405823:p.Ala673Asp					TMEM132A_ENST00000453848.2_Missense_Mutation_p.A673D	p.A674D	NM_017870.3|NM_178031.2	NP_060340.2|NP_821174.1	Q24JP5	T132A_HUMAN			10	2174	+			673			Binds to HSPA5/GRP78 (By similarity).|Confers cellular localization similar to full-length form (By similarity).		Q69YU7|Q86VZ8|Q86W97|Q9H8K3|Q9HCI9|Q9NWY0	Missense_Mutation	SNP	ENST00000453848.2	37	c.2021C>A	CCDS44618.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.08|11.08	1.533778|1.533778	0.27387|0.27387	.|.	.|.	ENSG00000006118|ENSG00000006118	ENST00000444690;ENST00000453848;ENST00000005286;ENST00000535480|ENST00000540112	T;T;T|.	0.14893|.	2.47;2.47;2.47|.	4.81|4.81	1.6|1.6	0.23607|0.23607	.|.	0.623994|.	0.14745|.	N|.	0.300943|.	T|T	0.34745|0.34745	0.0908|0.0908	L|L	0.47716|0.47716	1.5|1.5	0.09310|0.09310	N|N	1|1	P;P|.	0.42692|.	0.744;0.787|.	B;B|.	0.42282|.	0.211;0.382|.	T|T	0.27054|0.27054	-1.0085|-1.0085	10|5	0.87932|.	D|.	0|.	.|.	2.8813|2.8813	0.05648|0.05648	0.1466:0.5429:0.1428:0.1677|0.1466:0.5429:0.1428:0.1677	.|.	673;674|.	Q24JP5;Q24JP5-2|.	T132A_HUMAN;.|.	D|T	424;673;674;39|102	ENSP00000405823:A673D;ENSP00000005286:A674D;ENSP00000439716:A39D|.	ENSP00000005286:A674D|.	A|P	+|+	2|1	0|0	TMEM132A|TMEM132A	60459481|60459481	0.000000|0.000000	0.05858|0.05858	0.751000|0.751000	0.31187|0.31187	0.912000|0.912000	0.54170|0.54170	0.256000|0.256000	0.18351|0.18351	0.526000|0.526000	0.28541|0.28541	0.462000|0.462000	0.41574|0.41574	GCC|CCC		0.642	TMEM132A-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000396352.1	NM_017870		3	5	1	0	6.4e-05	1	6.76571e-05	3	5					A	60702905	C	A	60702905	3	1	311	1	0	0	0	0	1	0	0	0	16042	739	26	5	2059	5	TMEM132A	11	60702905	Missense_Mutation	SNP	C	TCGA-KK-A6E0-01A-11D-A30X-08	33977539	60702905	74303611	22	16003	78	2									
TMEM132A	54972	broad.mit.edu	37	chr11	60702907	60702907	+	Missense_Mutation	SNP	C	C	T																															cacagtcagcccttcccgccCcaaagcaggtgacagttggg																										TCGA-KK-A6E0-01A-11D-A30X-08	TCGA-KK-A6E0-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e0f93cb-4c8a-4ac0-849d-2956c14fd8f8	a320937d-7093-4543-b6a9-f0b8137d1255	g.chr11:60702907C>T	ENST00000453848.2	+	10	2178	c.2020C>T	c.(2020-2022)Cca>Tca	p.P674S	TMEM132A_ENST00000005286.4_Missense_Mutation_p.P675S			Q24JP5	T132A_HUMAN	transmembrane protein 132A	674	Binds to HSPA5/GRP78. {ECO:0000250}.|Confers cellular localization similar to full-length form. {ECO:0000250}.					endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|prostate(1)|skin(3)	32						CCTTCCCGCCCCAAAGCAGGT	0.647																																						ENST00000005286.4																			0				breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|prostate(1)|skin(3)	32						c.(2023-2025)Cca>Tca		transmembrane protein 132A							17	16	16					11																	60702907		2202	4294	6496	SO:0001583	missense	54972					endoplasmic reticulum membrane|Golgi membrane|integral to membrane		g.chr11:60702907C>T	AK000546	CCDS7997.1, CCDS44618.1	11q12.2	2006-03-02	2006-03-02	2006-03-02	ENSG00000006118	ENSG00000006118			31092	protein-coding gene	gene with protein product			"heat shock 70kDa protein 5 (glucose-regulated protein, 78kDa) binding protein 1"	HSPA5BP1		12514190, 10997877	Standard	NM_017870		Approved	GBP, FLJ20539	uc001nqi.3	Q24JP5	OTTHUMG00000167803	ENST00000453848.2:c.2020C>T	11.37:g.60702907C>T	ENSP00000405823:p.Pro674Ser					TMEM132A_ENST00000453848.2_Missense_Mutation_p.P674S	p.P675S	NM_017870.3|NM_178031.2	NP_060340.2|NP_821174.1	Q24JP5	T132A_HUMAN			10	2176	+			674			Binds to HSPA5/GRP78 (By similarity).|Confers cellular localization similar to full-length form (By similarity).		Q69YU7|Q86VZ8|Q86W97|Q9H8K3|Q9HCI9|Q9NWY0	Missense_Mutation	SNP	ENST00000453848.2	37	c.2023C>T	CCDS44618.1	.	.	.	.	.	.	.	.	.	.	C	11.28	1.593259	0.28357	.	.	ENSG00000006118	ENST00000444690;ENST00000453848;ENST00000005286;ENST00000535480	T;T;T	0.54071	0.59;0.59;2.57	4.81	3.87	0.44632	.	0.215447	0.30151	N	0.010282	T	0.51652	0.1687	M	0.79258	2.445	0.22330	N	0.999193	B;B	0.34200	0.383;0.441	B;B	0.32805	0.106;0.153	T	0.56715	-0.7933	10	0.87932	D	0	.	10.2774	0.43519	0.0:0.8461:0.0:0.1539	.	674;675	Q24JP5;Q24JP5-2	T132A_HUMAN;.	S	425;674;675;40	ENSP00000405823:P674S;ENSP00000005286:P675S;ENSP00000439716:P40S	ENSP00000005286:P675S	P	+	1	0	TMEM132A	60459483	0.000000	0.05858	0.987000	0.45799	0.929000	0.56500	0.363000	0.20301	2.388000	0.81334	0.462000	0.41574	CCA		0.647	TMEM132A-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000396352.1	NM_017870		3	6	0	0	0	1	0	3	6					T	60702907	C	T	60702907	3	4	311	1	0	0	0	0	1	0	0	0	16042	623	22	3	2061	3	TMEM132A	11	60702907	Missense_Mutation	SNP	C	TCGA-KK-A6E0-01A-11D-A30X-08	2	60702907	74303609	23	16004	78	2									
CCDC88B	283234	broad.mit.edu	37	chr11	64107744	64107744	+	Frame_Shift_Del	DEL	G	G	-																															caccccgacccgggcatggaGgggggcaaggggcccaggct																										TCGA-KK-A6E0-01A-11D-A30X-08	TCGA-KK-A6E0-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e0f93cb-4c8a-4ac0-849d-2956c14fd8f8	a320937d-7093-4543-b6a9-f0b8137d1255	g.chr11:64107744delG	ENST00000356786.5	+	1	50	c.6delG	c.(4-6)gagfs	p.E2fs	CCDC88B_ENST00000463837.1_3'UTR	NM_032251.5	NP_115627.6	A6NC98	CC88B_HUMAN	coiled-coil domain containing 88B	2						membrane (GO:0016020)				endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						CGGGCATGGAGGGGGGCAAGG	0.692																																						ENST00000356786.5																			0				endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(4-6)gafs		coiled-coil domain containing 88B							4	5	5					11																	64107744		1999	4022	6021	SO:0001589	frameshift_variant	283234				microtubule cytoskeleton organization	cytoplasm	microtubule binding	g.chr11:64107744delG	AK090436	CCDS8072.2	11q13.1	2013-03-13	2007-05-31	2007-05-31	ENSG00000168071	ENSG00000168071			26757	protein-coding gene	gene with protein product	"brain leucine zipper protein", "GRP78-interacting protein induced by ER stress"	611205	"coiled-coil domain containing 88"	CCDC88		15882442, 21289099	Standard	NM_032251		Approved	FLJ37970, BRLZ, HkRP3, FLJ00354, GIPIE	uc001nzy.3	A6NC98	OTTHUMG00000045419	ENST00000356786.5:c.6delG	11.37:g.64107744delG	ENSP00000349238:p.Glu2fs					CCDC88B_ENST00000463837.1_3'UTR	p.E2fs	NM_032251.5	NP_115627.6	A6NC98	CC88B_HUMAN			1	50	+			2					A5D8Y5|B5MDM2|Q05BL2|Q6RUV3|Q8N1Q6|Q8NF44|Q9H0H1	Frame_Shift_Del	DEL	ENST00000356786.5	37	c.6delG	CCDS8072.2																																																																																				0.692	CCDC88B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000104845.1	NM_032251		2	4						2	4	---	---	---	---	-	64107744	G	-	64107744	7	5	311	1	0	1	0	1	0	0	0	0	2864	991	35	0	8	0	CCDC88B	11	64107744	Frame_Shift_Del	DEL	G	TCGA-KK-A6E0-01A-11D-A30X-08	3404837	64107744	70898772	24	16005											
BICD1	636	broad.mit.edu	37	chr12	32369195	32369195	+	Silent	SNP	C	C	G																															ctgcaggcatttgggcagtcCttctccatccaccggaaggt																										TCGA-KK-A6E0-01A-11D-A30X-08	TCGA-KK-A6E0-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e0f93cb-4c8a-4ac0-849d-2956c14fd8f8	a320937d-7093-4543-b6a9-f0b8137d1255	g.chr12:32369195C>G	ENST00000281474.5	+	2	331	c.228C>G	c.(226-228)tcC>tcG	p.S76S	BICD1_ENST00000548411.1_Silent_p.S76S	NM_001714.2	NP_001705.2	Q96G01	BICD1_HUMAN	bicaudal D homolog 1 (Drosophila)	76					anatomical structure morphogenesis (GO:0009653)|intracellular mRNA localization (GO:0008298)|microtubule anchoring at microtubule organizing center (GO:0072393)|minus-end-directed organelle transport along microtubule (GO:0072385)|negative regulation of phospholipase C activity (GO:1900275)|negative regulation of phospholipase C-activating G-protein coupled receptor signaling pathway (GO:1900737)|positive regulation of receptor-mediated endocytosis (GO:0048260)|protein localization to organelle (GO:0033365)|regulation of proteinase activated receptor activity (GO:1900276)|RNA processing (GO:0006396)|stress granule assembly (GO:0034063)|viral process (GO:0016032)	cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|host cell viral assembly compartment (GO:0072517)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network (GO:0005802)	cytoskeletal adaptor activity (GO:0008093)|dynactin binding (GO:0034452)|dynein binding (GO:0045502)|proteinase activated receptor binding (GO:0031871)|Rab GTPase binding (GO:0017137)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46	all_cancers(9;5.13e-11)|all_epithelial(9;2.71e-11)|all_lung(12;6.66e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0213)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)		OV - Ovarian serous cystadenocarcinoma(6;0.0201)			TTGGGCAGTCCTTCTCCATCC	0.463																																						ENST00000548411.1																			0				NS(1)|breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						c.(226-228)tcC>tcG		bicaudal D homolog 1 (Drosophila)							71	73	72					12																	32369195		2203	4300	6503	SO:0001819	synonymous_variant	636				anatomical structure morphogenesis|intracellular mRNA localization|microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule|positive regulation of receptor-mediated endocytosis|protein localization to organelle|RNA processing|stress granule assembly|viral reproduction	cytoplasmic vesicle|cytoskeleton|cytosol|host cell viral assembly compartment|membrane|perinuclear region of cytoplasm|trans-Golgi network	cytoskeletal adaptor activity|dynactin binding|dynein binding|proteinase activated receptor binding|Rab GTPase binding|structural constituent of cytoskeleton	g.chr12:32369195C>G	U90028	CCDS8726.1, CCDS44859.1	12p11.2-p11.1	2005-01-13	2001-11-28			ENSG00000151746			1049	protein-coding gene	gene with protein product		602204	"Bicaudal D (Drosophila) homolog 1"			9367685	Standard	NM_001714		Approved		uc001rku.3	Q96G01	OTTHUMG00000169307	ENST00000281474.5:c.228C>G	12.37:g.32369195C>G						BICD1_ENST00000281474.5_Silent_p.S76S	p.S76S	NM_001003398.1	NP_001003398.1	Q96G01	BICD1_HUMAN	OV - Ovarian serous cystadenocarcinoma(6;0.0201)		2	409	+	all_cancers(9;5.13e-11)|all_epithelial(9;2.71e-11)|all_lung(12;6.66e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0213)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)		76					A8K2C3|F8W113|O43892|O43893	Silent	SNP	ENST00000281474.5	37	c.228C>G	CCDS8726.1																																																																																				0.463	BICD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403380.1	NM_001714		4	54	0	0	0	1	0	4	54					G	32369195	C	G	32369195	2	3	311	1	0	0	0	0	0	0	0	1	1428	668	24	5		5	BICD1	12	32369195	Silent	SNP	C	TCGA-KK-A6E0-01A-11D-A30X-08		32369195	101482700	25	16006	79	2									
BICD1	636	broad.mit.edu	37	chr12	32369197	32369197	+	Missense_Mutation	SNP	T	T	C																															gcaggcatttgggcagtcctTctccatccaccggaaggttg																										TCGA-KK-A6E0-01A-11D-A30X-08	TCGA-KK-A6E0-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e0f93cb-4c8a-4ac0-849d-2956c14fd8f8	a320937d-7093-4543-b6a9-f0b8137d1255	g.chr12:32369197T>C	ENST00000281474.5	+	2	333	c.230T>C	c.(229-231)tTc>tCc	p.F77S	BICD1_ENST00000548411.1_Missense_Mutation_p.F77S	NM_001714.2	NP_001705.2	Q96G01	BICD1_HUMAN	bicaudal D homolog 1 (Drosophila)	77					anatomical structure morphogenesis (GO:0009653)|intracellular mRNA localization (GO:0008298)|microtubule anchoring at microtubule organizing center (GO:0072393)|minus-end-directed organelle transport along microtubule (GO:0072385)|negative regulation of phospholipase C activity (GO:1900275)|negative regulation of phospholipase C-activating G-protein coupled receptor signaling pathway (GO:1900737)|positive regulation of receptor-mediated endocytosis (GO:0048260)|protein localization to organelle (GO:0033365)|regulation of proteinase activated receptor activity (GO:1900276)|RNA processing (GO:0006396)|stress granule assembly (GO:0034063)|viral process (GO:0016032)	cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|host cell viral assembly compartment (GO:0072517)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network (GO:0005802)	cytoskeletal adaptor activity (GO:0008093)|dynactin binding (GO:0034452)|dynein binding (GO:0045502)|proteinase activated receptor binding (GO:0031871)|Rab GTPase binding (GO:0017137)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46	all_cancers(9;5.13e-11)|all_epithelial(9;2.71e-11)|all_lung(12;6.66e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0213)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)		OV - Ovarian serous cystadenocarcinoma(6;0.0201)			GGGCAGTCCTTCTCCATCCAC	0.463																																						ENST00000548411.1																			0				NS(1)|breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						c.(229-231)tTc>tCc		bicaudal D homolog 1 (Drosophila)							72	73	73					12																	32369197		2203	4300	6503	SO:0001583	missense	636				anatomical structure morphogenesis|intracellular mRNA localization|microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule|positive regulation of receptor-mediated endocytosis|protein localization to organelle|RNA processing|stress granule assembly|viral reproduction	cytoplasmic vesicle|cytoskeleton|cytosol|host cell viral assembly compartment|membrane|perinuclear region of cytoplasm|trans-Golgi network	cytoskeletal adaptor activity|dynactin binding|dynein binding|proteinase activated receptor binding|Rab GTPase binding|structural constituent of cytoskeleton	g.chr12:32369197T>C	U90028	CCDS8726.1, CCDS44859.1	12p11.2-p11.1	2005-01-13	2001-11-28			ENSG00000151746			1049	protein-coding gene	gene with protein product		602204	"Bicaudal D (Drosophila) homolog 1"			9367685	Standard	NM_001714		Approved		uc001rku.3	Q96G01	OTTHUMG00000169307	ENST00000281474.5:c.230T>C	12.37:g.32369197T>C	ENSP00000281474:p.Phe77Ser					BICD1_ENST00000281474.5_Missense_Mutation_p.F77S	p.F77S	NM_001003398.1	NP_001003398.1	Q96G01	BICD1_HUMAN	OV - Ovarian serous cystadenocarcinoma(6;0.0201)		2	411	+	all_cancers(9;5.13e-11)|all_epithelial(9;2.71e-11)|all_lung(12;6.66e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0213)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)		77					A8K2C3|F8W113|O43892|O43893	Missense_Mutation	SNP	ENST00000281474.5	37	c.230T>C	CCDS8726.1	.	.	.	.	.	.	.	.	.	.	T	13.69	2.312786	0.40895	.	.	ENSG00000151746	ENST00000548411;ENST00000281474	T;T	0.40476	1.03;1.03	5.45	5.45	0.79879	.	0.070349	0.64402	D	0.000013	T	0.42381	0.1200	N	0.25647	0.755	0.80722	D	1	P;P	0.47841	0.718;0.901	P;P	0.52823	0.447;0.71	T	0.14755	-1.0461	10	0.18710	T	0.47	.	15.5284	0.75932	0.0:0.0:0.0:1.0	.	77;77	F8W113;Q96G01	.;BICD1_HUMAN	S	77	ENSP00000446793:F77S;ENSP00000281474:F77S	ENSP00000281474:F77S	F	+	2	0	BICD1	32260464	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.197000	0.58413	2.059000	0.61396	0.533000	0.62120	TTC		0.463	BICD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403380.1	NM_001714		4	54	0	0	0	1	0	4	54					C	32369197	T	C	32369197	3	2	311	1	0	0	0	0	1	0	0	0	1428	1783	62	4	236	4	BICD1	12	32369197	Missense_Mutation	SNP	T	TCGA-KK-A6E0-01A-11D-A30X-08	2	32369197	101482698	26	16007	79	2									
MDM1	56890	broad.mit.edu	37	chr12	68719231	68719231	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	attaagctacctgattggctGcaaaagctggagcagtttct	11	12	10	8	0	1	1	0	1	1	0	1	2	1	2	1	2	5	6	1	2	4	4			TCGA-KK-A6E0-01A-11D-A30X-08	TCGA-KK-A6E0-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e0f93cb-4c8a-4ac0-849d-2956c14fd8f8	a320937d-7093-4543-b6a9-f0b8137d1255	g.chr12:68719231G>A	ENST00000303145.7	-	4	709	c.623C>T	c.(622-624)gCa>gTa	p.A208V	MDM1_ENST00000411698.2_Intron|MDM1_ENST00000393543.3_3'UTR|MDM1_ENST00000540418.1_5'UTR|MDM1_ENST00000430606.2_3'UTR|MDM1_ENST00000545724.1_5'UTR	NM_017440.4	NP_059136.2	Q8TC05	MDM1_HUMAN	Mdm1 nuclear protein homolog (mouse)	208					retina development in camera-type eye (GO:0060041)	nucleus (GO:0005634)				breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(7)	33			Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018)	GBM - Glioblastoma multiforme(7;0.000174)		CTGATTGGCTGCAAAAGCTGG	0.338																																						ENST00000303145.7																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(7)	33						c.(622-624)gCa>gTa		Mdm1 nuclear protein homolog (mouse)							121	133	129					12																	68719231		2203	4300	6503	SO:0001583	missense	56890					nucleus		g.chr12:68719231G>A	AF007130	CCDS8983.1, CCDS44938.1, CCDS55841.1, CCDS55842.1	12q15	2008-04-14	2008-04-14			ENSG00000111554			29917	protein-coding gene	gene with protein product		613813	"Mdm4, transformed 3T3 cell double minute 1, p53 binding protein (mouse)"			8619474, 9110174	Standard	NM_017440		Approved		uc001stz.2	Q8TC05		ENST00000303145.7:c.623C>T	12.37:g.68719231G>A	ENSP00000302537:p.Ala208Val					MDM1_ENST00000540418.1_5'UTR|MDM1_ENST00000430606.2_3'UTR|MDM1_ENST00000545724.1_5'UTR|MDM1_ENST00000411698.2_Intron|MDM1_ENST00000393543.3_3'UTR	p.A208V	NM_017440.4	NP_059136.2	Q8TC05	MDM1_HUMAN	Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018)	GBM - Glioblastoma multiforme(7;0.000174)	4	709	-			208					B4DM65|E7EPQ3|O43406|Q8WTV9|Q9NR04	Missense_Mutation	SNP	ENST00000303145.7	37	c.623C>T	CCDS8983.1	.	.	.	.	.	.	.	.	.	.	G	18.69	3.677391	0.68042	.	.	ENSG00000111554	ENST00000303145;ENST00000541686	T;T	0.28454	1.61;1.61	5.29	5.29	0.74685	.	0.230365	0.43579	D	0.000546	T	0.48714	0.1515	M	0.75264	2.295	0.80722	D	1	D	0.55172	0.97	P	0.51657	0.676	T	0.47787	-0.9090	9	.	.	.	-1.8086	19.3236	0.94252	0.0:0.0:1.0:0.0	.	208	Q8TC05	MDM1_HUMAN	V	208;203	ENSP00000302537:A208V;ENSP00000446000:A203V	.	A	-	2	0	MDM1	67005498	1.000000	0.71417	0.993000	0.49108	0.975000	0.68041	5.010000	0.64004	2.654000	0.90174	0.561000	0.74099	GCA		0.338	MDM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402402.1	NM_020128		4	112	0	0	0	1	0	4	112					A	68719231	G	A	68719231	3	1	311	1	0	0	0	0	1	0	0	0	9412	1319	46	3	1565	3	MDM1	12	68719231	Missense_Mutation	SNP	G	TCGA-KK-A6E0-01A-11D-A30X-08	36350034	68719231	65132664	27	16008											
IFT81	28981	broad.mit.edu	37	chr12	110630424	110630424	+	Frame_Shift_Del	DEL	G	G	-																															tttttgttcaaataacaggtGaaaaaactgtattcattggt																										TCGA-KK-A6E0-01A-11D-A30X-08	TCGA-KK-A6E0-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e0f93cb-4c8a-4ac0-849d-2956c14fd8f8	a320937d-7093-4543-b6a9-f0b8137d1255	g.chr12:110630424delG	ENST00000242591.5	+	14	1976	c.1470delG	c.(1468-1470)gtgfs	p.V490fs	IFT81_ENST00000552912.1_Frame_Shift_Del_p.V490fs	NM_014055.3	NP_054774.2	Q8WYA0	IFT81_HUMAN	intraflagellar transport 81	490					cilium assembly (GO:0042384)|intraciliary transport involved in cilium morphogenesis (GO:0035735)|spermatogenesis (GO:0007283)	centrosome (GO:0005813)|cilium (GO:0005929)|intraciliary transport particle B (GO:0030992)|motile cilium (GO:0031514)|sperm midpiece (GO:0097225)|sperm principal piece (GO:0097228)	tubulin binding (GO:0015631)	p.L493fs*7(1)		endometrium(1)|large_intestine(2)|lung(5)|ovary(1)|stomach(1)	10						AATAACAGGTGAAAAAACTGT	0.279																																						ENST00000242591.5																			1	Insertion - Frameshift(1)	p.L493fs*7(1)	large_intestine(1)	endometrium(1)|large_intestine(2)|lung(5)|ovary(1)|stomach(1)	10						c.(1468-1470)gtfs		intraflagellar transport 81 homolog (Chlamydomonas)							70	68	69					12																	110630424		1795	4055	5850	SO:0001589	frameshift_variant	28981				cell differentiation|multicellular organismal development|spermatogenesis	intraflagellar transport particle B|microtubule-based flagellum		g.chr12:110630424delG	AF139540	CCDS9142.1, CCDS41831.1	12q24.13	2014-07-03	2014-07-03	2005-11-02		ENSG00000122970		"Intraflagellar transport homologs"	14313	protein-coding gene	gene with protein product		605489	"carnitine deficiency-associated, expressed in ventricle 1", "intraflagellar transport 81 homolog (Chlamydomonas)"	CDV1		11130971	Standard	NM_014055		Approved	CDV-1R, MGC4027	uc001tqi.3	Q8WYA0	OTTHUMG00000169326	ENST00000242591.5:c.1470delG	12.37:g.110630424delG	ENSP00000242591:p.Val490fs					IFT81_ENST00000552912.1_Frame_Shift_Del_p.V490fs	p.V490fs	NM_014055.3	NP_054774.2	Q8WYA0	IFT81_HUMAN			14	1976	+			490					Q2YDY1|Q8NB51|Q9BSV2|Q9UNY8	Frame_Shift_Del	DEL	ENST00000242591.5	37	c.1470delG	CCDS41831.1																																																																																				0.279	IFT81-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403529.1	NM_014055		12	25						12	25	---	---	---	---	-	110630424	G	-	110630424	7	5	311	1	0	1	0	1	0	0	0	0	7565	1277	45	0	1632	0	IFT81	12	110630424	Frame_Shift_Del	DEL	G	TCGA-KK-A6E0-01A-11D-A30X-08	41911193	110630424	23221471	28	16009											
RFC3	5983	broad.mit.edu	37	chr13	34392356	34392356	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gtatcggccctgctccttggGacggctggactatcacaagg	7	9	13	12	2	1	0	1	0	0	0	3	2	2	2	2	5	1	3	2	5	3	3	rs140507898		TCGA-KK-A6E0-01A-11D-A30X-08	TCGA-KK-A6E0-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e0f93cb-4c8a-4ac0-849d-2956c14fd8f8	a320937d-7093-4543-b6a9-f0b8137d1255	g.chr13:34392356G>A	ENST00000380071.3	+	1	171	c.41G>A	c.(40-42)gGa>gAa	p.G14E	RFC3_ENST00000434425.1_Missense_Mutation_p.G14E	NM_002915.3	NP_002906.1	P40938	RFC3_HUMAN	replication factor C (activator 1) 3, 38kDa	14					ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA synthesis involved in DNA repair (GO:0000731)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|response to organophosphorus (GO:0046683)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	DNA replication factor C complex (GO:0005663)|nucleoplasm (GO:0005654)	DNA clamp loader activity (GO:0003689)			lung(2)|skin(1)	3		Hepatocellular(188;0.0191)|Lung SC(185;0.0548)		all cancers(112;5.09e-06)|Epithelial(112;6.52e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00107)|OV - Ovarian serous cystadenocarcinoma(117;0.0285)|GBM - Glioblastoma multiforme(144;0.123)		TGCTCCTTGGGACGGCTGGAC	0.701																																						ENST00000380071.3																			0				lung(2)|skin(1)	3						c.(40-42)gGa>gAa		replication factor C (activator 1) 3, 38kDa							22	30	27					13																	34392356		2192	4273	6465	SO:0001583	missense	5983				cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA synthesis involved in DNA repair|nucleotide-excision repair, DNA gap filling|response to organophosphorus|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	DNA replication factor C complex|nucleoplasm	ATP binding|DNA clamp loader activity|protein binding	g.chr13:34392356G>A		CCDS9352.1, CCDS45025.1	13q13.2	2010-04-21	2002-08-29		ENSG00000133119	ENSG00000133119		"ATPases / AAA-type"	9971	protein-coding gene	gene with protein product	"RFC, 38 kD subunit", "A1 38 kDa subunit"	600405	"replication factor C (activator 1) 3 (38kD)"			7774928	Standard	NM_002915		Approved	RFC38, MGC5276	uc001uuz.3	P40938	OTTHUMG00000016715	ENST00000380071.3:c.41G>A	13.37:g.34392356G>A	ENSP00000369411:p.Gly14Glu					RFC3_ENST00000434425.1_Missense_Mutation_p.G14E	p.G14E	NM_002915.3	NP_002906.1	P40938	RFC3_HUMAN		all cancers(112;5.09e-06)|Epithelial(112;6.52e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00107)|OV - Ovarian serous cystadenocarcinoma(117;0.0285)|GBM - Glioblastoma multiforme(144;0.123)	1	171	+		Hepatocellular(188;0.0191)|Lung SC(185;0.0548)	14					C9JU95|O15252|Q5W0E8	Missense_Mutation	SNP	ENST00000380071.3	37	c.41G>A	CCDS9352.1	.	.	.	.	.	.	.	.	.	.	G	12.47	1.948854	0.34377	.	.	ENSG00000133119	ENST00000380071;ENST00000434425	T;T	0.40756	1.02;1.02	5.06	0.847	0.18961	.	0.734087	0.12985	N	0.422928	T	0.18257	0.0438	N	0.00760	-1.21	0.09310	N	1	B;B;B	0.18863	0.031;0.002;0.001	B;B;B	0.21360	0.034;0.002;0.002	T	0.19192	-1.0313	10	0.40728	T	0.16	-8.1737	17.346	0.87309	0.0:0.7201:0.2799:0.0	.	14;14;14	B4DKE6;C9JU95;P40938	.;.;RFC3_HUMAN	E	14	ENSP00000369411:G14E;ENSP00000401001:G14E	ENSP00000369411:G14E	G	+	2	0	RFC3	33290356	0.040000	0.19996	0.081000	0.20488	0.920000	0.55202	0.172000	0.16704	0.116000	0.18110	0.655000	0.94253	GGA		0.701	RFC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044450.2	NM_002915		10	37	0	0	0	1	0	10	37					A	34392356	G	A	34392356	3	1	311	1	0	0	0	0	1	0	0	0	13246	1174	41	3	43	3	RFC3	13	34392356	Missense_Mutation	SNP	G	TCGA-KK-A6E0-01A-11D-A30X-08		34392356	80777522	29	16010											
PIGQ	9091	broad.mit.edu	37	chr16	624161	624161	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgggtgccggagcagagcagCgccgtggtcctggcggtcct	4	7	18	12	4	0	1	0	0	0	1	2	2	2	2	4	5	4	2	4	5	0	0			TCGA-KK-A6E0-01A-11D-A30X-08	TCGA-KK-A6E0-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e0f93cb-4c8a-4ac0-849d-2956c14fd8f8	a320937d-7093-4543-b6a9-f0b8137d1255	g.chr16:624161C>A	ENST00000026218.5	+	2	175	c.87C>A	c.(85-87)agC>agA	p.S29R	PIGQ_ENST00000470411.2_Missense_Mutation_p.S29R|PIGQ_ENST00000321878.5_Missense_Mutation_p.S29R|PIGQ_ENST00000409527.2_Missense_Mutation_p.S29R	NM_148920.2	NP_683721.1	Q9BRB3	PIGQ_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class Q	29					C-terminal protein lipidation (GO:0006501)|carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)	endoplasmic reticulum membrane (GO:0005789)|glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex (GO:0000506)|integral component of membrane (GO:0016021)	phosphatidylinositol N-acetylglucosaminyltransferase activity (GO:0017176)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	13		Hepatocellular(780;0.00335)				AGCAGAGCAGCGCCGTGGTCC	0.697																																						ENST00000321878.5																			0				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	13						c.(85-87)agC>agA		phosphatidylinositol glycan anchor biosynthesis, class Q							76	61	66					16																	624161		2200	4299	6499	SO:0001583	missense	9091				C-terminal protein lipidation|carbohydrate metabolic process|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	phosphatidylinositol N-acetylglucosaminyltransferase activity	g.chr16:624161C>A	AB003723	CCDS10411.1, CCDS10412.1	16p13.3	2013-03-28	2006-06-28		ENSG00000007541	ENSG00000007541		"Phosphatidylinositol glycan anchor biosynthesis"	14135	protein-coding gene	gene with protein product		605754	"phosphatidylinositol glycan, class Q"			9463366, 9729469	Standard	NM_004204		Approved	hGPI1, GPI1	uc002cho.3	Q9BRB3	OTTHUMG00000168047	ENST00000026218.5:c.87C>A	16.37:g.624161C>A	ENSP00000026218:p.Ser29Arg					PIGQ_ENST00000026218.5_Missense_Mutation_p.S29R|PIGQ_ENST00000409527.2_Missense_Mutation_p.S29R|PIGQ_ENST00000470411.2_Missense_Mutation_p.S29R	p.S29R	NM_004204.3	NP_004195.2	Q9BRB3	PIGQ_HUMAN			2	246	+		Hepatocellular(780;0.00335)	29					A2IDE1|D3DU52|O14927|Q96G00|Q96S22|Q9UJH4	Missense_Mutation	SNP	ENST00000026218.5	37	c.87C>A	CCDS10411.1	.	.	.	.	.	.	.	.	.	.	C	15.34	2.804835	0.50315	.	.	ENSG00000007541	ENST00000293874;ENST00000409527;ENST00000409439;ENST00000422307;ENST00000321878;ENST00000439574;ENST00000026218;ENST00000470411	T;T;T;T;T;T;T;T	0.61158	0.35;0.13;0.32;0.23;0.13;0.4;1.39;0.26	5.17	-6.39	0.01951	.	0.202450	0.53938	D	0.000056	T	0.64538	0.2607	M	0.63843	1.955	0.52501	D	0.999957	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.998;0.997;0.999;0.993	T	0.69676	-0.5081	10	0.87932	D	0	-18.508	10.3724	0.44062	0.0:0.1115:0.1048:0.7836	.	43;29;29;29	E7ERP4;Q9BRB3;Q9BRB3-2;Q9BRB3-3	.;PIGQ_HUMAN;.;.	R	29	ENSP00000293874:S29R;ENSP00000386760:S29R;ENSP00000386554:S29R;ENSP00000413753:S29R;ENSP00000326674:S29R;ENSP00000387820:S29R;ENSP00000026218:S29R;ENSP00000439650:S29R	ENSP00000026218:S29R	S	+	3	2	PIGQ	564162	0.609000	0.26975	0.576000	0.28549	0.443000	0.32047	-0.324000	0.07986	-0.715000	0.04968	-0.424000	0.05967	AGC		0.697	PIGQ-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000239270.2	NM_004204		4	36	1	0	0.014758	1	0.014758	4	36					A	624161	C	A	624161	3	1	311	1	0	0	0	0	1	0	0	0	11896	767	27	5	89	5	PIGQ	16	624161	Missense_Mutation	SNP	C	TCGA-KK-A6E0-01A-11D-A30X-08		624161	89730592	30	16011											
MIS12	79003	broad.mit.edu	37	chr17	5392653	5392653	+	Frame_Shift_Del	DEL	T	T	-																															aaactcaaacagacgttgacTttctttgatgagcttcataa																										TCGA-KK-A6E0-01A-11D-A30X-08	TCGA-KK-A6E0-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e0f93cb-4c8a-4ac0-849d-2956c14fd8f8	a320937d-7093-4543-b6a9-f0b8137d1255	g.chr17:5392653delT	ENST00000381165.3	+	3	1024	c.471delT	c.(469-471)actfs	p.T157fs	MIS12_ENST00000573759.1_Frame_Shift_Del_p.T157fs|DERL2_ENST00000571968.1_5'Flank	NM_001258217.1|NM_001258219.1|NM_001258220.1|NM_024039.2	NP_001245146.1|NP_001245148.1|NP_001245149.1|NP_076944.1			MIS12 kinetochore complex component											central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(2)	12						AGACGTTGACTTTCTTTGATG	0.398																																						ENST00000381165.3																			0				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(2)	12						c.(469-471)acfs		MIS12 kinetochore complex component							189	185	186					17																	5392653		2203	4300	6503	SO:0001589	frameshift_variant	79003				cell division|chromosome segregation|kinetochore assembly|mitotic prometaphase	cytosol|MIS12/MIND type complex|nucleus	protein binding	g.chr17:5392653delT	AL136906	CCDS11074.1	17p13.3	2013-07-03	2013-07-03		ENSG00000167842	ENSG00000167842			24967	protein-coding gene	gene with protein product		609178	"MIS12, MIND kinetochore complex component, homolog (yeast)", "MIS12, MIND kinetochore complex component, homolog (S. pombe)"			11230166, 12515822	Standard	NM_001258217		Approved	MGC2488, hMIS12, KNTC2AP, MTW1	uc031qyj.1	Q9H081	OTTHUMG00000102042	ENST00000381165.3:c.471delT	17.37:g.5392653delT	ENSP00000370557:p.Thr157fs					MIS12_ENST00000573759.1_Frame_Shift_Del_p.T157fs	p.T157fs	NM_001258217.1|NM_001258219.1|NM_001258220.1|NM_024039.2	NP_001245146.1|NP_001245148.1|NP_001245149.1|NP_076944.1	Q9H081	MIS12_HUMAN			3	1024	+			157						Frame_Shift_Del	DEL	ENST00000381165.3	37	c.471delT	CCDS11074.1																																																																																				0.398	MIS12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219827.1	NM_024039		79	156						79	156	---	---	---	---	-	5392653	T	-	5392653	7	5	311	1	0	1	0	1	0	0	0	0	9594	1596	56	0	473	0	MIS12	17	5392653	Frame_Shift_Del	DEL	T	TCGA-KK-A6E0-01A-11D-A30X-08		5392653	75802557	31	16012											
KRT15	3866	broad.mit.edu	37	chr17	39672161	39672161	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctgagctgggactgcagctcGatctccagctcctgcatcgt	6	10	11	14	2	1	1	0	1	1	0	5	3	2	2	2	1	5	5	2	1	0	0			TCGA-KK-A6E0-01A-11D-A30X-08	TCGA-KK-A6E0-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e0f93cb-4c8a-4ac0-849d-2956c14fd8f8	a320937d-7093-4543-b6a9-f0b8137d1255	g.chr17:39672161G>A	ENST00000254043.3	-	5	4587	c.1002C>T	c.(1000-1002)atC>atT	p.I334I	KRT15_ENST00000393976.2_Silent_p.I334I|KRT15_ENST00000393974.3_Silent_p.I169I|KRT15_ENST00000393981.3_Silent_p.I169I	NM_002275.3	NP_002266	P19012	K1C15_HUMAN	keratin 15	334	Coil 2.|Rod.				epidermis development (GO:0008544)	extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	scaffold protein binding (GO:0097110)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16		Breast(137;0.000286)				ACTGCAGCTCGATCTCCAGCT	0.577																																						ENST00000254043.3																			0				NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16						c.(1000-1002)atC>atT		keratin 15							206	186	193					17																	39672161		2203	4300	6503	SO:0001819	synonymous_variant	3866				epidermis development	intermediate filament	protein binding|structural constituent of cytoskeleton	g.chr17:39672161G>A		CCDS11398.1	17q21.2	2013-06-20			ENSG00000171346	ENSG00000171346		"-", "Intermediate filaments type I, keratins (acidic)"	6421	protein-coding gene	gene with protein product	"keratin-15, basic", "keratin-15, beta", "type I cytoskeletal 15", "cytokeratin 15"	148030				16831889	Standard	NM_002275		Approved	K15, CK15, K1CO	uc002hwy.3	P19012	OTTHUMG00000133435	ENST00000254043.3:c.1002C>T	17.37:g.39672161G>A						KRT15_ENST00000393976.2_Silent_p.I334I|KRT15_ENST00000393981.3_Silent_p.I169I|KRT15_ENST00000393974.3_Silent_p.I169I	p.I334I	NM_002275.3	NP_002266.2	P19012	K1C15_HUMAN			5	4587	-		Breast(137;0.000286)	334			Coil 2.|Rod.		B3KQY1|B3KRA2|E0CX14|Q53XV8|Q9BUG4	Silent	SNP	ENST00000254043.3	37	c.1002C>T	CCDS11398.1																																																																																				0.577	KRT15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257301.1	NM_002275		51	91	0	0	0	1	0	51	91					A	39672161	G	A	39672161	2	1	311	1	0	0	0	0	0	0	0	1	8452	1048	37	2		2	KRT15	17	39672161	Silent	SNP	G	TCGA-KK-A6E0-01A-11D-A30X-08	34279508	39672161	41523049	32	16013											
SPOP	8405	broad.mit.edu	37	chr17	47696426	47696426	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tctacggatgaatttcttgaAtccccagtctttgccttgca	8	15	7	11	1	3	2	0	2	3	0	4	3	4	3	3	1	3	1	3	1	3	5			TCGA-KK-A6E0-01A-11D-A30X-08	TCGA-KK-A6E0-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e0f93cb-4c8a-4ac0-849d-2956c14fd8f8	a320937d-7093-4543-b6a9-f0b8137d1255	g.chr17:47696426A>T	ENST00000393328.2	-	6	762	c.397T>A	c.(397-399)Ttc>Atc	p.F133I	SPOP_ENST00000503676.1_Missense_Mutation_p.F133I|SPOP_ENST00000393331.3_Missense_Mutation_p.F133I|SPOP_ENST00000504102.1_Missense_Mutation_p.F133I|SPOP_ENST00000347630.2_Missense_Mutation_p.F133I|SPOP_ENST00000513080.1_5'Flank	NM_003563.3	NP_003554.1	O43791	SPOP_HUMAN	speckle-type POZ protein	133	Important for binding substrate proteins.|MATH. {ECO:0000255|PROSITE- ProRule:PRU00129}.|Required for nuclear localization.				glucose homeostasis (GO:0042593)|positive regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902237)|positive regulation of type B pancreatic cell apoptotic process (GO:2000676)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	Cul3-RING ubiquitin ligase complex (GO:0031463)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	ubiquitin protein ligase binding (GO:0031625)	p.F133V(4)		endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						AATTTCTTGAATCCCCAGTCT	0.448										Prostate(2;0.17)																												ENST00000393331.3																			4	Substitution - Missense(4)	p.F133V(4)	prostate(4)	endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						c.(397-399)Ttc>Atc		speckle-type POZ protein							119	121	120					17																	47696426		2203	4300	6503	SO:0001583	missense	8405				mRNA processing	nucleus	protein binding	g.chr17:47696426A>T	AJ000644	CCDS11551.1	17q21.33	2013-01-09			ENSG00000121067	ENSG00000121067		"BTB/POZ domain containing"	11254	protein-coding gene	gene with protein product		602650				9414087	Standard	NM_001007227		Approved	TEF2, BTBD32	uc002ipg.3	O43791	OTTHUMG00000161496	ENST00000393328.2:c.397T>A	17.37:g.47696426A>T	ENSP00000377001:p.Phe133Ile	Prostate(2;0.17)				SPOP_ENST00000504102.1_Missense_Mutation_p.F133I|SPOP_ENST00000503676.1_Missense_Mutation_p.F133I|SPOP_ENST00000393328.2_Missense_Mutation_p.F133I|SPOP_ENST00000347630.2_Missense_Mutation_p.F133I	p.F133I	NM_001007226.1|NM_001007227.1	NP_001007227.1|NP_001007228.1	O43791	SPOP_HUMAN			7	867	-			133			MATH.|Required for nuclear localization.		B2R6S3|D3DTW7|Q53HJ1	Missense_Mutation	SNP	ENST00000393328.2	37	c.397T>A	CCDS11551.1	.	.	.	.	.	.	.	.	.	.	A	28.6	4.932698	0.92458	.	.	ENSG00000121067	ENST00000393328;ENST00000393331;ENST00000347630;ENST00000504102;ENST00000503536;ENST00000503676;ENST00000513872;ENST00000509079;ENST00000505581;ENST00000507970;ENST00000514121	T;T;T;T;T;T;T;T;T	0.42900	0.96;0.96;0.96;0.96;0.96;0.96;0.96;0.96;0.96	5.41	5.41	0.78517	TRAF-type (1);TRAF-like (1);MATH (3);	0.000000	0.85682	D	0.000000	T	0.60314	0.2259	M	0.88181	2.935	0.80722	D	1	P	0.41475	0.751	P	0.47206	0.541	T	0.68697	-0.5340	10	0.72032	D	0.01	-9.6576	15.258	0.73599	1.0:0.0:0.0:0.0	.	133	O43791	SPOP_HUMAN	I	133;133;133;133;17;133;86;133;133;133;133	ENSP00000377001:F133I;ENSP00000377004:F133I;ENSP00000240327:F133I;ENSP00000425905:F133I;ENSP00000420908:F133I;ENSP00000426986:F133I;ENSP00000420960:F133I;ENSP00000426262:F133I;ENSP00000424119:F133I	ENSP00000240327:F133I	F	-	1	0	SPOP	45051425	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.131000	0.94446	2.261000	0.74972	0.460000	0.39030	TTC		0.448	SPOP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365154.2	NM_003563		31	79	0	0	0	1	0	31	79					T	47696426	A	T	47696426	3	4	311	1	0	0	0	0	1	0	0	0	15083	101	4	5	751	5	SPOP	17	47696426	Missense_Mutation	SNP	A	TCGA-KK-A6E0-01A-11D-A30X-08	8024265	47696426	33498784	33	16014											
ZBTB7A	51341	broad.mit.edu	37	chr19	4054988	4054988	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agcgcggtgagcgcctcggcGctgacgaagtcgatctcgta	7	7	15	12	8	1	2	0	2	1	0	4	4	1	2	1	2	2	2	1	2	2	1			TCGA-KK-A6E0-01A-11D-A30X-08	TCGA-KK-A6E0-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e0f93cb-4c8a-4ac0-849d-2956c14fd8f8	a320937d-7093-4543-b6a9-f0b8137d1255	g.chr19:4054988G>A	ENST00000322357.4	-	2	521	c.243C>T	c.(241-243)agC>agT	p.S81S	ZBTB7A_ENST00000601588.1_Silent_p.S81S	NM_015898.2	NP_056982.1	O95365	ZBT7A_HUMAN	zinc finger and BTB domain containing 7A	81	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone acetyltransferase binding (GO:0035035)|metal ion binding (GO:0046872)			endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	14		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.014)|STAD - Stomach adenocarcinoma(1328;0.18)		GCGCCTCGGCGCTGACGAAGT	0.662																																						ENST00000322357.4																			0				endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	14						c.(241-243)agC>agT		zinc finger and BTB domain containing 7A							78	61	67					19																	4054988		2203	4300	6503	SO:0001819	synonymous_variant	51341				cell differentiation|multicellular organismal development|transcription, DNA-dependent	nucleus	DNA binding|histone acetyltransferase binding|zinc ion binding	g.chr19:4054988G>A	AF000561	CCDS12119.1	19p13.3	2013-01-08		2005-04-07		ENSG00000178951		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	18078	protein-coding gene	gene with protein product	"zinc finger and BTB domain containing 7A, HIV-1 inducer of short transcripts binding protein", "lymphoma related factor"	605878	"zinc finger and BTB domain containing 7"	ZBTB7		9973611, 9927193	Standard	NM_015898		Approved	FBI-1, LRF, DKFZp547O146, pokemon, ZNF857A	uc002lzi.3	O95365		ENST00000322357.4:c.243C>T	19.37:g.4054988G>A						ZBTB7A_ENST00000601588.1_Silent_p.S81S	p.S81S	NM_015898.2	NP_056982.1	O95365	ZBT7A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.014)|STAD - Stomach adenocarcinoma(1328;0.18)	2	521	-		Hepatocellular(1079;0.137)	81			BTB.		D6W619|O00456|Q14D41|Q5XG86	Silent	SNP	ENST00000322357.4	37	c.243C>T	CCDS12119.1																																																																																				0.662	ZBTB7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457621.2	NM_015898		16	14	0	0	0	1	0	16	14					A	4054988	G	A	4054988	2	1	311	1	0	0	0	0	0	0	0	1	17550	1078	38	1		1	ZBTB7A	19	4054988	Silent	SNP	G	TCGA-KK-A6E0-01A-11D-A30X-08		4054988	55073995	34	16015											
SHANK1	50944	broad.mit.edu	37	chr19	51217085	51217085	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aggcagtgtcgggcgcatgcGgccttatgcagtgcggtcat	6	9	16	10	4	1	0	1	0	0	0	2	0	1	0	1	4	3	3	1	4	1	1			TCGA-KK-A6E0-01A-11D-A30X-08	TCGA-KK-A6E0-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e0f93cb-4c8a-4ac0-849d-2956c14fd8f8	a320937d-7093-4543-b6a9-f0b8137d1255	g.chr19:51217085G>A	ENST00000293441.1	-	5	780	c.762C>T	c.(760-762)gcC>gcT	p.A254A	SHANK1_ENST00000359082.3_Silent_p.A254A|SHANK1_ENST00000391814.1_Silent_p.A254A	NM_016148.2	NP_057232.2	Q9Y566	SHAN1_HUMAN	SH3 and multiple ankyrin repeat domains 1	254					adult behavior (GO:0030534)|associative learning (GO:0008306)|cytoskeletal anchoring at plasma membrane (GO:0007016)|dendritic spine morphogenesis (GO:0060997)|determination of affect (GO:0050894)|habituation (GO:0046959)|long-term memory (GO:0007616)|negative regulation of actin filament bundle assembly (GO:0032232)|neuromuscular process controlling balance (GO:0050885)|olfactory behavior (GO:0042048)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|protein complex assembly (GO:0006461)|protein localization to synapse (GO:0035418)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|righting reflex (GO:0060013)|social behavior (GO:0035176)|synapse maturation (GO:0060074)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|excitatory synapse (GO:0060076)|intracellular (GO:0005622)|membrane (GO:0016020)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	ankyrin repeat binding (GO:0071532)|GKAP/Homer scaffold activity (GO:0030160)|identical protein binding (GO:0042802)|ionotropic glutamate receptor binding (GO:0035255)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|scaffold protein binding (GO:0097110)|SH3 domain binding (GO:0017124)|somatostatin receptor binding (GO:0031877)			breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		GGGCGCATGCGGCCTTATGCA	0.637																																						ENST00000293441.1																			0				breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64						c.(760-762)gcC>gcT		SH3 and multiple ankyrin repeat domains 1							41	47	45					19																	51217085		2203	4300	6503	SO:0001819	synonymous_variant	50944				cytoskeletal anchoring at plasma membrane	cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane	ionotropic glutamate receptor binding	g.chr19:51217085G>A	AF163302	CCDS12799.1	19q13.3	2013-01-10			ENSG00000161681	ENSG00000161681		"Sterile alpha motif (SAM) domain containing", "Ankyrin repeat domain containing"	15474	protein-coding gene	gene with protein product	"somatostatin receptor-interacting protein"	604999				10551867	Standard	NM_016148		Approved	SSTRIP, SPANK-1, synamon	uc002psx.1	Q9Y566	OTTHUMG00000137380	ENST00000293441.1:c.762C>T	19.37:g.51217085G>A						SHANK1_ENST00000359082.3_Silent_p.A254A|SHANK1_ENST00000391814.1_Silent_p.A254A	p.A254A	NM_016148.2	NP_057232.2	Q9Y566	SHAN1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)	5	780	-		all_neural(266;0.057)	254					A8MXP5|B7WNY6|Q9NYW9	Silent	SNP	ENST00000293441.1	37	c.762C>T	CCDS12799.1																																																																																				0.637	SHANK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268071.1	NM_016148		8	57	0	0	0	1	0	8	57					A	51217085	G	A	51217085	2	1	311	1	0	0	0	0	0	0	0	1	14264	1103	39	2		2	SHANK1	19	51217085	Silent	SNP	G	TCGA-KK-A6E0-01A-11D-A30X-08	47162097	51217085	7911898	35	16016											
ZNF841	284371	broad.mit.edu	37	chr19	52580282	52580282	+	Intron	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttctgaacagggtccaggCatttccactcctcctgagag	8	11	9	13	0	1	2	0	2	1	1	5	3	5	2	4	2	1	1	4	2	1	2			TCGA-KK-A6E0-01A-11D-A30X-08	TCGA-KK-A6E0-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e0f93cb-4c8a-4ac0-849d-2956c14fd8f8	a320937d-7093-4543-b6a9-f0b8137d1255	g.chr19:52580282C>T	ENST00000426391.2	-	4	475				ZNF841_ENST00000389534.4_Missense_Mutation_p.C24Y|ZNF841_ENST00000594295.1_Missense_Mutation_p.C24Y|ZNF432_ENST00000598446.1_Intron			Q6ZN19	ZN841_HUMAN	zinc finger protein 841						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(4)|kidney(3)|lung(3)	11						AGGGTCCAGGCATTTCCACTC	0.468																																						ENST00000389534.4																			0				breast(1)|endometrium(4)|kidney(3)|lung(3)	11						c.(70-72)tGc>tAc		zinc finger protein 841							70	62	64					19																	52580282		692	1591	2283	SO:0001627	intron_variant	284371				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52580282C>T	AK131409	CCDS46161.1	19q13.41	2013-01-08			ENSG00000197608	ENSG00000197608		"Zinc fingers, C2H2-type", "-"	27611	protein-coding gene	gene with protein product							Standard	NM_001136499		Approved	LOC284371	uc010ydh.1	Q6ZN19		ENST00000426391.2:c.76+7757G>A	19.37:g.52580282C>T						ZNF432_ENST00000598446.1_Intron|ZNF841_ENST00000594295.1_Missense_Mutation_p.C24Y|ZNF841_ENST00000426391.2_Intron	p.C24Y	NM_001136499.1	NP_001129971.1	Q6ZN19	ZN841_HUMAN			5	530	-			0					B9EG58|Q6ZN82|Q6ZP71|Q8N9U7	Missense_Mutation	SNP	ENST00000426391.2	37	c.71G>A		.	.	.	.	.	.	.	.	.	.	C	0.006	-2.036489	0.00406	.	.	ENSG00000197608	ENST00000389534	T	0.01767	4.65	2.66	-1.5	0.08691	.	.	.	.	.	T	0.01454	0.0047	.	.	.	0.09310	N	1	D	0.54207	0.965	P	0.47981	0.563	T	0.44221	-0.9342	8	0.13853	T	0.58	.	2.6778	0.05085	0.212:0.3719:0.0:0.4161	.	24	Q6ZN19-3	.	Y	24	ENSP00000374185:C24Y	ENSP00000374185:C24Y	C	-	2	0	ZNF841	57272094	0.000000	0.05858	0.070000	0.20053	0.203000	0.24098	-2.141000	0.01300	0.036000	0.15547	0.449000	0.29647	TGC		0.468	ZNF841-001	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000462435.1	XM_209155		15	41	0	0	0	1	0	15	41					T	52580282	C	T	52580282	1	4	311	0	1	0	0	0	0	0	0	0	18186	710	25	3		3	ZNF841	19	52580282	Intron	SNP	C	TCGA-KK-A6E0-01A-11D-A30X-08	1363197	52580282	6548701	36	16017											
POTEH	23784	broad.mit.edu	37	chr22	16287548	16287548	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	aagtgcccacgttgctcttgCcgctccccctgcagcagggg	5	8	12	16	2	1	0	0	0	1	0	2	0	2	0	4	2	5	5	4	2	1	2			TCGA-KK-A6E0-01A-11D-A30X-08	TCGA-KK-A6E0-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e0f93cb-4c8a-4ac0-849d-2956c14fd8f8	a320937d-7093-4543-b6a9-f0b8137d1255	g.chr22:16287548C>T	ENST00000343518.6	-	1	389	c.338G>A	c.(337-339)gGc>gAc	p.G113D		NM_001136213.1	NP_001129685.1	Q6S545	POTEH_HUMAN	POTE ankyrin domain family, member H	113										NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2)	37						GTTGCTCTTGCCGCTCCCCCT	0.592																																						ENST00000343518.6																			0				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2)	37						c.(337-339)gGc>gAc		POTE ankyrin domain family, member H							97	110	106					22																	16287548		2057	3903	5960	SO:0001583	missense	23784							g.chr22:16287548C>T	AY462874	CCDS74808.1	22q11.1	2013-01-10	2008-11-26	2008-11-26	ENSG00000198062	ENSG00000198062		"POTE ankyrin domain containing", "Ankyrin repeat domain containing"	133	protein-coding gene	gene with protein product	"cancer/testis antigen family 104, member 7"	608913	"actin, beta-like 1", "ANKRD26-like family C, member 3"	ACTBL1, A26C3		10591208, 15276201, 21439273	Standard	NM_001136213		Approved	POTE22, CT104.7	uc010gqp.2	Q6S545	OTTHUMG00000140314	ENST00000343518.6:c.338G>A	22.37:g.16287548C>T	ENSP00000340610:p.Gly113Asp						p.G113D	NM_001136213.1	NP_001129685.1	Q6S545	POTEH_HUMAN			1	389	-			113					A2CEK4|A6NCI1|A9Z1W0	Missense_Mutation	SNP	ENST00000343518.6	37	c.338G>A	CCDS46658.1	.	.	.	.	.	.	.	.	.	.	.	4.666	0.123749	0.08931	.	.	ENSG00000198062	ENST00000359587;ENST00000343518;ENST00000355872	T	0.35605	1.3	.	.	.	.	.	.	.	.	T	0.28699	0.0711	L	0.53249	1.67	0.09310	N	1	B	0.16396	0.017	B	0.15052	0.012	T	0.25572	-1.0128	7	0.25106	T	0.35	.	.	.	.	.	113	Q6S545	POTEH_HUMAN	D	76;113;113	ENSP00000340610:G113D	ENSP00000340610:G113D	G	-	2	0	POTEH	14667548	0.000000	0.05858	0.018000	0.16275	0.019000	0.09904	-3.312000	0.00516	0.269000	0.21961	0.274000	0.19336	GGC		0.592	POTEH-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000276918.4	NM_001136213		5	186	0	0	0	1	0	5	186					T	16287548	C	T	16287548	3	4	311	1	0	0	0	0	1	0	0	0	12267	739	26	3	1339	3	POTEH	22	16287548	Missense_Mutation	SNP	C	TCGA-KK-A6E0-01A-11D-A30X-08		16287548	35017018	37	16018											
BCL2L13	23786	broad.mit.edu	37	chr22	18178954	18178954	+	Frame_Shift_Del	DEL	T	T	-																															atgtacactggagaccacagTtcatgccagcggctggaata																										TCGA-KK-A6E0-01A-11D-A30X-08	TCGA-KK-A6E0-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e0f93cb-4c8a-4ac0-849d-2956c14fd8f8	a320937d-7093-4543-b6a9-f0b8137d1255	g.chr22:18178954delT	ENST00000317582.5	+	5	781	c.434delT	c.(433-435)gttfs	p.V145fs	BCL2L13_ENST00000399782.1_Frame_Shift_Del_p.V145fs|BCL2L13_ENST00000493680.1_Frame_Shift_Del_p.V145fs|BCL2L13_ENST00000418951.2_Intron|BCL2L13_ENST00000543133.1_5'UTR|BCL2L13_ENST00000538149.1_Intron|BCL2L13_ENST00000337612.5_Intron|BCL2L13_ENST00000355028.3_Intron	NM_015367.3	NP_056182.2	Q9BXK5	B2L13_HUMAN	BCL2-like 13 (apoptosis facilitator)	145					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)			breast(2)|central_nervous_system(1)|large_intestine(2)|liver(2)|lung(2)|ovary(1)|skin(3)|urinary_tract(2)	15		all_epithelial(15;0.123)		Lung(27;0.199)		GAGACCACAGTTCATGCCAGC	0.378																																						ENST00000317582.5																			0				breast(2)|central_nervous_system(1)|large_intestine(2)|liver(2)|lung(2)|ovary(1)|skin(3)|urinary_tract(2)	15						c.(433-435)gtfs		BCL2-like 13 (apoptosis facilitator)							103	102	102					22																	18178954		2203	4300	6503	SO:0001589	frameshift_variant	23786				induction of apoptosis	integral to membrane|mitochondrial membrane|nucleus	caspase activator activity	g.chr22:18178954delT	AF146568	CCDS13746.1, CCDS59447.1, CCDS59448.1, CCDS74810.1, CCDS74811.1, CCDS74812.1, CCDS74813.1, CCDS74814.1	22q11	2014-03-07			ENSG00000099968	ENSG00000099968			17164	protein-coding gene	gene with protein product						11262395, 11381032	Standard	NM_015367		Approved	MIL1, BCL-RAMBO	uc002zmw.4	Q9BXK5	OTTHUMG00000150088	ENST00000317582.5:c.434delT	22.37:g.18178954delT	ENSP00000318883:p.Val145fs					BCL2L13_ENST00000399782.1_Frame_Shift_Del_p.V145fs|BCL2L13_ENST00000538149.1_Intron|BCL2L13_ENST00000337612.5_Intron|BCL2L13_ENST00000418951.2_Intron|BCL2L13_ENST00000543133.1_5'UTR|BCL2L13_ENST00000493680.1_Frame_Shift_Del_p.V145fs|BCL2L13_ENST00000355028.3_Intron	p.V145fs	NM_015367.2	NP_056182.2	Q9BXK5	B2L13_HUMAN		Lung(27;0.199)	5	781	+		all_epithelial(15;0.123)	145					B3KPE7|Q96B37|Q96IB7|Q9BY01|Q9HC05|Q9UFE0|Q9UKN3	Frame_Shift_Del	DEL	ENST00000317582.5	37	c.434delT	CCDS13746.1																																																																																				0.378	BCL2L13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316184.1	NM_015367		8	38						8	38	---	---	---	---	-	18178954	T	-	18178954	7	5	311	1	0	1	0	1	0	0	0	0	1371	1725	60	0	448	0	BCL2L13	22	18178954	Frame_Shift_Del	DEL	T	TCGA-KK-A6E0-01A-11D-A30X-08	1891406	18178954	33125612	38	16019											
MKL1	57591	broad.mit.edu	37	chr22	40816928	40816928	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aggatctgcagctggaggaaGagctgctgctgctgcaggat	9	8	16	8	0	1	1	0	0	1	1	1	5	1	5	0	4	7	7	0	4	1	0			TCGA-KK-A6E0-01A-11D-A30X-08	TCGA-KK-A6E0-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e0f93cb-4c8a-4ac0-849d-2956c14fd8f8	a320937d-7093-4543-b6a9-f0b8137d1255	g.chr22:40816928G>C	ENST00000355630.3	-	10	1394	c.804C>G	c.(802-804)ctC>ctG	p.L268L	MKL1_ENST00000396617.3_Silent_p.L268L|MKL1_ENST00000407029.1_Silent_p.L268L|MKL1_ENST00000402042.1_Silent_p.L218L	NM_020831.3	NP_065882.1	Q969V6	MKL1_HUMAN	megakaryoblastic leukemia (translocation) 1	268	Gln-rich.				negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription via serum response element binding (GO:0010735)|smooth muscle cell differentiation (GO:0051145)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	actin binding (GO:0003779)|actin monomer binding (GO:0003785)|leucine zipper domain binding (GO:0043522)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	30						GCTGGAGGAAGAGCTGCTGCT	0.627			T	RBM15	acute megakaryocytic leukemia																																	ENST00000396617.3				Dom	yes		22	22q13	57591	T	megakaryoblastic leukemia (translocation) 1			L	RBM15		acute megakaryocytic leukemia		0				breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	30						c.(802-804)ctC>ctG		megakaryoblastic leukemia (translocation) 1							73	71	71					22																	40816928		2203	4300	6503	SO:0001819	synonymous_variant	57591				positive regulation of transcription from RNA polymerase II promoter|smooth muscle cell differentiation|transcription, DNA-dependent	cytoplasm|nucleus	actin monomer binding|leucine zipper domain binding|nucleic acid binding|transcription coactivator activity	g.chr22:40816928G>C	AB037859	CCDS14003.1, CCDS74865.1, CCDS74866.1	22q13	2008-06-12			ENSG00000196588	ENSG00000196588			14334	protein-coding gene	gene with protein product	"megakaryocytic acute leukemia", "myocardin-related transcription factor A", "basic, SAP and coiled-coil domain"	606078				11431691, 12019265, 14970199	Standard	XM_005261692		Approved	KIAA1438, MAL, MRTF-A, BSAC	uc003ayw.1	Q969V6	OTTHUMG00000151146	ENST00000355630.3:c.804C>G	22.37:g.40816928G>C						MKL1_ENST00000402042.1_Silent_p.L218L|MKL1_ENST00000355630.3_Silent_p.L268L|MKL1_ENST00000407029.1_Silent_p.L268L	p.L268L			Q969V6	MKL1_HUMAN			10	1394	-			268			Gln-rich.		Q8TCL1|Q96SC5|Q96SC6|Q9P2B0	Silent	SNP	ENST00000355630.3	37	c.804C>G	CCDS14003.1																																																																																				0.627	MKL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321522.1	NM_020831		16	36	0	0	0	1	0	16	36					C	40816928	G	C	40816928	2	2	311	1	0	0	0	0	0	0	0	1	9601	929	33	5		5	MKL1	22	40816928	Silent	SNP	G	TCGA-KK-A6E0-01A-11D-A30X-08	22637974	40816928	10487638	39	16020											
SAMM50	25813	broad.mit.edu	37	chr22	44386201	44386201	+	Frame_Shift_Del	DEL	G	G	-																															agtgcatccgctggtcgtacGgggccgggattgtcctcagg																										TCGA-KK-A6E0-01A-11D-A30X-08	TCGA-KK-A6E0-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e0f93cb-4c8a-4ac0-849d-2956c14fd8f8	a320937d-7093-4543-b6a9-f0b8137d1255	g.chr22:44386201delG	ENST00000350028.4	+	14	1436	c.1279delG	c.(1279-1281)gggfs	p.G427fs	SAMM50_ENST00000396202.3_Frame_Shift_Del_p.G217fs	NM_015380.4	NP_056195.3	Q9Y512	SAM50_HUMAN	SAMM50 sorting and assembly machinery component	427					cellular protein metabolic process (GO:0044267)|protein import into mitochondrial outer membrane (GO:0045040)|protein targeting to mitochondrion (GO:0006626)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial outer membrane (GO:0005741)|mitochondrial sorting and assembly machinery complex (GO:0001401)|mitochondrion (GO:0005739)				endometrium(3)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_neural(38;0.0966)|Ovarian(80;0.105)|Glioma(61;0.222)				CTGGTCGTACGGGGCCGGGAT	0.562																																						ENST00000350028.4																			0				endometrium(3)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						c.(1279-1281)ggfs		SAMM50 sorting and assembly machinery component							139	105	117					22																	44386201		2203	4300	6503	SO:0001589	frameshift_variant	25813				protein import into mitochondrial outer membrane	integral to membrane|integral to membrane of membrane fraction|mitochondrial sorting and assembly machinery complex	protein binding	g.chr22:44386201delG	AK001087	CCDS14055.1	22q13.31	2013-08-21	2013-08-21	2005-11-20	ENSG00000100347	ENSG00000100347			24276	protein-coding gene	gene with protein product		612058	"sorting and assembly machinery component 50 homolog (S. cerevisiae)"			15644312	Standard	NM_015380		Approved	CGI-51, TRG-3, YNL026W, OMP85, TOB55	uc003bej.3	Q9Y512	OTTHUMG00000150557	ENST00000350028.4:c.1279delG	22.37:g.44386201delG	ENSP00000345445:p.Gly427fs					SAMM50_ENST00000396202.3_Frame_Shift_Del_p.G217fs	p.G427fs	NM_015380.4	NP_056195.3	Q9Y512	SAM50_HUMAN			14	1436	+		all_neural(38;0.0966)|Ovarian(80;0.105)|Glioma(61;0.222)	427					Q53HC4|Q56VW7|Q969Y9|Q96I46|Q9NW85|Q9UQM9	Frame_Shift_Del	DEL	ENST00000350028.4	37	c.1279delG	CCDS14055.1																																																																																				0.562	SAMM50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318898.2	NM_015380		21	59						21	59	---	---	---	---	-	44386201	G	-	44386201	7	5	311	1	0	1	0	1	0	0	0	0	13829	1116	39	0	1333	0	SAMM50	22	44386201	Frame_Shift_Del	DEL	G	TCGA-KK-A6E0-01A-11D-A30X-08	3569273	44386201	6918365	40	16021											
CYP4Z1	199974	broad.mit.edu	37	chr1	47533298	47533298	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgatcagagccctgcacctgTttcctgcaccccctgcccac	6	9	7	19	0	1	2	1	1	0	1	2	2	2	2	6	0	4	3	6	0	0	1			TCGA-KK-A6E1-01A-11D-A30X-08	TCGA-KK-A6E1-11A-21D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13b7e087-b8c9-4aca-82d5-bad335e8c8ac	94ff6d8f-9403-4266-a6a8-0c264a0116fd	g.chr1:47533298T>C	ENST00000334194.3	+	1	139	c.136T>C	c.(136-138)Ttt>Ctt	p.F46L		NM_178134.2	NP_835235.1	Q86W10	CP4Z1_HUMAN	cytochrome P450, family 4, subfamily Z, polypeptide 1	46						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			cervix(1)|large_intestine(4)|lung(4)|skin(1)|stomach(1)	11						CCTGCACCTGTTTCCTGCACC	0.498																																						ENST00000334194.3																			0				cervix(1)|large_intestine(4)|lung(4)|skin(1)|stomach(1)	11						c.(136-138)Ttt>Ctt		cytochrome P450, family 4, subfamily Z, polypeptide 1							93	89	90					1																	47533298		2203	4300	6503	SO:0001583	missense	199974					endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding	g.chr1:47533298T>C	AY262056	CCDS545.1	1p33	2008-02-05			ENSG00000186160	ENSG00000186160		"Cytochrome P450s"	20583	protein-coding gene	gene with protein product						15059886	Standard	NM_178134		Approved	CYP4A20	uc001cqu.1	Q86W10	OTTHUMG00000008019	ENST00000334194.3:c.136T>C	1.37:g.47533298T>C	ENSP00000334246:p.Phe46Leu						p.F46L	NM_178134.2	NP_835235.1	Q86W10	CP4Z1_HUMAN			1	139	+			46					Q5VVE4	Missense_Mutation	SNP	ENST00000334194.3	37	c.136T>C	CCDS545.1	.	.	.	.	.	.	.	.	.	.	T	16.37	3.105164	0.56291	.	.	ENSG00000186160	ENST00000334194	T	0.67345	-0.26	3.1	3.1	0.35709	.	0.000000	0.64402	U	0.000010	T	0.70552	0.3237	L	0.39898	1.24	0.26499	N	0.974801	D	0.63880	0.993	D	0.72625	0.978	T	0.60357	-0.7279	10	0.87932	D	0	.	7.6568	0.28379	0.0:0.0:0.0:1.0	.	46	Q86W10	CP4Z1_HUMAN	L	46	ENSP00000334246:F46L	ENSP00000334246:F46L	F	+	1	0	CYP4Z1	47305885	0.811000	0.29063	0.167000	0.22817	0.013000	0.08279	2.269000	0.43346	1.274000	0.44362	0.378000	0.23410	TTT		0.498	CYP4Z1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022020.1	NM_178134		31	43	0	0	0	1	0	31	43					C	47533298	T	C	47533298	3	2	312	1	0	0	0	0	1	0	0	0	4194	1725	60	4	138	4	CYP4Z1	1	47533298	Missense_Mutation	SNP	T	TCGA-KK-A6E1-01A-11D-A30X-08		47533298	201717323	1	16022											
SPTA1	6708	broad.mit.edu	37	chr1	158655065	158655065	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgaaactttgataccgagTcaacacttcctgacgcctct	10	12	6	13	2	2	3	1	3	1	0	3	4	3	3	3	0	3	0	3	0	3	4			TCGA-KK-A6E1-01A-11D-A30X-08	TCGA-KK-A6E1-11A-21D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13b7e087-b8c9-4aca-82d5-bad335e8c8ac	94ff6d8f-9403-4266-a6a8-0c264a0116fd	g.chr1:158655065T>A	ENST00000368147.4	-	2	277	c.97A>T	c.(97-99)Act>Tct	p.T33S		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	33					actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					TGATACCGAGTCAACACTTCC	0.478																																						ENST00000368148.3																			0				NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307						c.(97-99)Act>Tct		spectrin, alpha, erythrocytic 1 (elliptocytosis 2)							139	140	140					1																	158655065		1926	4136	6062	SO:0001583	missense	6708				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	g.chr1:158655065T>A	M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"EF-hand domain containing"	11272	protein-coding gene	gene with protein product	"elliptocytosis 2"	182860	"spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.97A>T	1.37:g.158655065T>A	ENSP00000357129:p.Thr33Ser					SPTA1_ENST00000368147.3_Missense_Mutation_p.T33S	p.T33S	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN			2	277	-	all_hematologic(112;0.0378)		33					Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Missense_Mutation	SNP	ENST00000368147.4	37	c.97A>T	CCDS41423.1	.	.	.	.	.	.	.	.	.	.	T	8.730	0.916406	0.17907	.	.	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.33216	1.42;1.42	4.98	-0.478	0.12093	.	2.014550	0.03104	N	0.161482	T	0.01835	0.0058	N	0.00368	-1.59	0.21105	N	0.999786	B	0.02656	0.0	B	0.01281	0.0	T	0.40813	-0.9543	10	0.02654	T	1	.	10.8676	0.46864	0.0:0.5859:0.0:0.4141	.	33	P02549	SPTA1_HUMAN	S	33	ENSP00000357130:T33S;ENSP00000357129:T33S	ENSP00000357129:T33S	T	-	1	0	SPTA1	156921689	0.997000	0.39634	0.011000	0.14972	0.979000	0.70002	0.878000	0.28126	-0.247000	0.09597	0.383000	0.25322	ACT		0.478	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126		40	81	0	0	0	1	0	40	81					A	158655065	T	A	158655065	3	1	312	1	0	0	0	0	1	0	0	0	15115	1667	58	5	7366	5	SPTA1	1	158655065	Missense_Mutation	SNP	T	TCGA-KK-A6E1-01A-11D-A30X-08	111121767	158655065	90595556	2	16023											
OR2C3	81472	broad.mit.edu	37	chr1	247695157	247695157	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acggcccgggcaatgtggccGtaagagaccaggatgagccc	10	4	15	12	3	0	2	0	1	0	1	0	4	0	3	4	4	1	2	4	4	2	1	rs570164676		TCGA-KK-A6E1-01A-11D-A30X-08	TCGA-KK-A6E1-11A-21D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13b7e087-b8c9-4aca-82d5-bad335e8c8ac	94ff6d8f-9403-4266-a6a8-0c264a0116fd	g.chr1:247695157G>A	ENST00000366487.3	-	2	1018	c.657C>T	c.(655-657)taC>taT	p.Y219Y	GCSAML_ENST00000527084.1_Intron|GCSAML_ENST00000531662.1_Intron|GCSAML_ENST00000366490.3_Intron|GCSAML_ENST00000366489.1_Intron|GCSAML_ENST00000527541.1_Intron|GCSAML_ENST00000463359.1_Intron|GCSAML_ENST00000366491.2_Intron	NM_198074.4	NP_932340	Q8N628	OR2C3_HUMAN	olfactory receptor, family 2, subfamily C, member 3	219						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(5)|large_intestine(2)|lung(31)|ovary(1)|prostate(1)|skin(2)	43	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0242)	OV - Ovarian serous cystadenocarcinoma(106;0.0241)			CAATGTGGCCGTAAGAGACCA	0.542																																						ENST00000366487.3																			0				breast(1)|endometrium(5)|large_intestine(2)|lung(31)|ovary(1)|prostate(1)|skin(2)	43						c.(655-657)taC>taT		olfactory receptor, family 2, subfamily C, member 3							88	86	87					1																	247695157		2203	4300	6503	SO:0001819	synonymous_variant	81472				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:247695157G>A	BC030717	CCDS1634.2	1q44	2014-02-19	2002-02-28		ENSG00000196242	ENSG00000196242		"GPCR / Class A : Olfactory receptors"	15005	protein-coding gene	gene with protein product			"olfactory receptor, family 2, subfamily C, member 4"	OR2C4, OR2C5P			Standard	NM_198074		Approved	OST742	uc009xgy.3	Q8N628	OTTHUMG00000040579	ENST00000366487.3:c.657C>T	1.37:g.247695157G>A						GCSAML_ENST00000366490.3_Intron|GCSAML_ENST00000463359.1_Intron|GCSAML_ENST00000366489.1_Intron|GCSAML_ENST00000531662.1_Intron|GCSAML_ENST00000527084.1_Intron|GCSAML_ENST00000366491.2_Intron|GCSAML_ENST00000527541.1_Intron	p.Y219Y	NM_198074.4	NP_932340.3	Q8N628	OR2C3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0241)		2	1018	-	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0242)	219					Q5JQS4|Q6IEZ1|Q8NGW7	Silent	SNP	ENST00000366487.3	37	c.657C>T	CCDS1634.2																																																																																				0.542	OR2C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097626.2	NM_198074		4	62	0	0	0	1	0	4	62					A	247695157	G	A	247695157	2	1	312	1	0	0	0	0	0	0	0	1	10993	1140	40	1		1	OR2C3	1	247695157	Silent	SNP	G	TCGA-KK-A6E1-01A-11D-A30X-08	89040092	247695157	1555464	3	16024											
CTNNA2	1496	broad.mit.edu	37	chr2	80874771	80874771	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgaatgctgttgtcctcaCggtgaaagcatcctatgtgg	9	12	12	8	1	1	2	1	2	0	0	3	3	3	2	2	2	2	3	2	2	3	2			TCGA-KK-A6E1-01A-11D-A30X-08	TCGA-KK-A6E1-11A-21D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13b7e087-b8c9-4aca-82d5-bad335e8c8ac	94ff6d8f-9403-4266-a6a8-0c264a0116fd	g.chr2:80874771C>T	ENST00000402739.4	+	18	2641	c.2636C>T	c.(2635-2637)aCg>aTg	p.T879M	CTNNA2_ENST00000343114.3_Missense_Mutation_p.T510M|CTNNA2_ENST00000540488.1_Missense_Mutation_p.T786M|CTNNA2_ENST00000541047.1_Missense_Mutation_p.T831M|CTNNA2_ENST00000496558.1_Missense_Mutation_p.T831M|CTNNA2_ENST00000466387.1_Missense_Mutation_p.T831M|CTNNA2_ENST00000361291.4_Missense_Mutation_p.T865M	NM_001282597.1	NP_001269526.1	P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	879					axonogenesis (GO:0007409)|brain morphogenesis (GO:0048854)|dendrite morphogenesis (GO:0048813)|muscle cell differentiation (GO:0042692)|positive regulation of muscle cell differentiation (GO:0051149)|prepulse inhibition (GO:0060134)|radial glia guided migration of Purkinje cell (GO:0021942)|regulation of synapse structural plasticity (GO:0051823)|single organismal cell-cell adhesion (GO:0016337)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|axon (GO:0030424)|basolateral plasma membrane (GO:0016323)|cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lamellipodium (GO:0030027)	structural constituent of cytoskeleton (GO:0005200)			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						GTTGTCCTCACGGTGAAAGCA	0.478																																						ENST00000466387.1																			0				breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						c.(2491-2493)aCg>aTg		catenin (cadherin-associated protein), alpha 2							149	147	148					2																	80874771		1973	4187	6160	SO:0001583	missense	1496				axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton	g.chr2:80874771C>T		CCDS42703.2, CCDS62944.1, CCDS62945.1, CCDS74531.1	2p12-p11.1	2010-05-04			ENSG00000066032	ENSG00000066032			2510	protein-coding gene	gene with protein product	"cadherin-associated protein, related", "cancer/testis antigen 114"	114025				8432524	Standard	NM_004389		Approved	CAP-R, CT114	uc010ysf.2	P26232	OTTHUMG00000152903	ENST00000402739.4:c.2636C>T	2.37:g.80874771C>T	ENSP00000384638:p.Thr879Met					CTNNA2_ENST00000402739.4_Missense_Mutation_p.T879M|CTNNA2_ENST00000540488.1_Missense_Mutation_p.T786M|CTNNA2_ENST00000496558.1_Missense_Mutation_p.T831M|CTNNA2_ENST00000343114.3_Missense_Mutation_p.T510M|CTNNA2_ENST00000361291.4_Missense_Mutation_p.T865M|CTNNA2_ENST00000541047.1_Missense_Mutation_p.T831M	p.T831M			P26232	CTNA2_HUMAN			22	3216	+			879					B3KXE5|B7Z2W7|B7Z352|B7Z898|Q4ZFW1|Q53R26|Q53R33|Q53T67|Q53T71|Q53TM8|Q7Z3L1|Q7Z3Y0	Missense_Mutation	SNP	ENST00000402739.4	37	c.2492C>T		.	.	.	.	.	.	.	.	.	.	C	23.2	4.382426	0.82792	.	.	ENSG00000066032	ENST00000466387;ENST00000496558;ENST00000361291;ENST00000402739;ENST00000541047;ENST00000540488;ENST00000343114	T;T;T;T;T;T;T	0.54071	0.59;0.59;0.59;0.59;0.59;0.59;0.59	5.97	5.97	0.96955	.	0.120444	0.56097	D	0.000030	T	0.80253	0.4589	M	0.91717	3.235	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;1.0;1.0;1.0	T	0.82721	-0.0317	9	.	.	.	.	20.428	0.99075	0.0:1.0:0.0:0.0	.	463;879;786;831	F6KRI5;P26232;P26232-3;P26232-2	.;CTNA2_HUMAN;.;.	M	831;831;865;879;831;786;510	ENSP00000418191:T831M;ENSP00000419295:T831M;ENSP00000355398:T865M;ENSP00000384638:T879M;ENSP00000444675:T831M;ENSP00000441705:T786M;ENSP00000341500:T510M	.	T	+	2	0	CTNNA2	80728282	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.818000	0.86416	2.837000	0.97791	0.655000	0.94253	ACG		0.478	CTNNA2-003	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000328511.4	NM_004389		44	65	0	0	0	1	0	44	65					T	80874771	C	T	80874771	3	4	312	1	0	0	0	0	1	0	0	0	4013	536	19	1	2350	1	CTNNA2	2	80874771	Missense_Mutation	SNP	C	TCGA-KK-A6E1-01A-11D-A30X-08		80874771	162324602	4	16025											
GCC2	9648	broad.mit.edu	37	chr2	109106455	109106455	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaaactgtgtccaaagaggCggaactccgggaaaagtaag	15	5	14	7	2	0	1	0	0	0	1	2	4	2	4	2	4	2	1	2	4	6	1			TCGA-KK-A6E1-01A-11D-A30X-08	TCGA-KK-A6E1-11A-21D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13b7e087-b8c9-4aca-82d5-bad335e8c8ac	94ff6d8f-9403-4266-a6a8-0c264a0116fd	g.chr2:109106455C>T	ENST00000309863.6	+	18	4928	c.4214C>T	c.(4213-4215)gCg>gTg	p.A1405V		NM_181453.3	NP_852118	Q8IWJ2	GCC2_HUMAN	GRIP and coiled-coil domain containing 2	1405					Golgi ribbon formation (GO:0090161)|late endosome to Golgi transport (GO:0034499)|microtubule anchoring (GO:0034453)|microtubule organizing center organization (GO:0031023)|protein localization to Golgi apparatus (GO:0034067)|protein targeting to Golgi (GO:0000042)|protein targeting to lysosome (GO:0006622)|recycling endosome to Golgi transport (GO:0071955)|regulation of protein exit from endoplasmic reticulum (GO:0070861)|retrograde transport, endosome to Golgi (GO:0042147)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	identical protein binding (GO:0042802)			breast(8)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	54						TCCAAAGAGGCGGAACTCCGG	0.398																																						ENST00000309863.6																			0				breast(8)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	54						c.(4213-4215)gCg>gTg		GRIP and coiled-coil domain containing 2							73	66	68					2																	109106455		2203	4300	6503	SO:0001583	missense	9648				Golgi ribbon formation|late endosome to Golgi transport|microtubule anchoring|microtubule organizing center organization|protein localization in Golgi apparatus|protein targeting to lysosome|recycling endosome to Golgi transport|regulation of protein exit from endoplasmic reticulum	membrane|trans-Golgi network	identical protein binding	g.chr2:109106455C>T	BC020645	CCDS33268.1	2q12.3	2008-02-05	2004-03-05		ENSG00000135968	ENSG00000135968			23218	protein-coding gene	gene with protein product		612711	"GRIP and coiled-coil domain-containing 2"			12446665	Standard	NM_181453		Approved	GCC185, KIAA0336	uc002tec.3	Q8IWJ2	OTTHUMG00000153214	ENST00000309863.6:c.4214C>T	2.37:g.109106455C>T	ENSP00000307939:p.Ala1405Val						p.A1405V	NM_181453.3	NP_852118.1	Q8IWJ2	GCC2_HUMAN			18	4928	+			1405					A6H8X8|O15045|Q4ZG46|Q8TDH3|Q9H2G8	Missense_Mutation	SNP	ENST00000309863.6	37	c.4214C>T	CCDS33268.1	.	.	.	.	.	.	.	.	.	.	C	33	5.197628	0.94997	.	.	ENSG00000135968	ENST00000309863	T	0.37752	1.18	5.74	5.74	0.90152	.	0.000000	0.85682	D	0.000000	T	0.51261	0.1664	L	0.36672	1.1	0.58432	D	0.999997	D	0.76494	0.999	D	0.68765	0.96	T	0.25676	-1.0125	10	0.30854	T	0.27	.	20.2982	0.98569	0.0:1.0:0.0:0.0	.	1405	Q8IWJ2	GCC2_HUMAN	V	1405	ENSP00000307939:A1405V	ENSP00000307939:A1405V	A	+	2	0	GCC2	108472887	1.000000	0.71417	0.970000	0.41538	0.863000	0.49368	7.128000	0.77217	2.873000	0.98535	0.563000	0.77884	GCG		0.398	GCC2-014	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358516.3	NM_014635		10	20	0	0	0	1	0	10	20					T	109106455	C	T	109106455	3	4	312	1	0	0	0	0	1	0	0	0	6286	768	27	1	4284	1	GCC2	2	109106455	Missense_Mutation	SNP	C	TCGA-KK-A6E1-01A-11D-A30X-08	28231684	109106455	134092918	5	16026											
CNTNAP5	129684	broad.mit.edu	37	chr2	125521715	125521715	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttaaagacttcattcgactcGaaataagctgtaagtgccct	13	12	7	9	2	1	1	1	0	0	1	3	3	1	1	1	0	2	2	1	0	5	5	rs576933313		TCGA-KK-A6E1-01A-11D-A30X-08	TCGA-KK-A6E1-11A-21D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13b7e087-b8c9-4aca-82d5-bad335e8c8ac	94ff6d8f-9403-4266-a6a8-0c264a0116fd	g.chr2:125521715G>A	ENST00000431078.1	+	16	2885	c.2521G>A	c.(2521-2523)Gaa>Aaa	p.E841K		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	841	Laminin G-like 3. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		CATTCGACTCGAAATAAGCTG	0.373													G|||	1	0.000199681	8e-04	0	5008	,	,		19858	0		0	False		,,,				2504	0					ENST00000431078.1																			0				NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176						c.(2521-2523)Gaa>Aaa		contactin associated protein-like 5							97	92	94					2																	125521715		1826	4083	5909	SO:0001583	missense	129684				cell adhesion|signal transduction	integral to membrane	receptor binding	g.chr2:125521715G>A	AB077881	CCDS46401.1	2q14.1	2008-02-05			ENSG00000155052	ENSG00000155052			18748	protein-coding gene	gene with protein product		610519					Standard	NM_130773		Approved	caspr5, FLJ31966	uc002tno.3	Q8WYK1	OTTHUMG00000153356	ENST00000431078.1:c.2521G>A	2.37:g.125521715G>A	ENSP00000399013:p.Glu841Lys						p.E841K	NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.248)	16	2885	+			841			Laminin G-like 3.		Q4ZFW2|Q4ZG21|Q53R09|Q53RX1|Q53SG3|Q584P3|Q96MS7	Missense_Mutation	SNP	ENST00000431078.1	37	c.2521G>A	CCDS46401.1	.	.	.	.	.	.	.	.	.	.	G	26.1	4.704984	0.88924	.	.	ENSG00000155052	ENST00000431078	T	0.80480	-1.38	5.75	5.75	0.90469	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.000000	0.50627	D	0.000104	D	0.94039	0.8090	H	0.98199	4.17	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.95450	0.8533	10	0.59425	D	0.04	.	18.9356	0.92584	0.0:0.0:1.0:0.0	.	841	Q8WYK1	CNTP5_HUMAN	K	841	ENSP00000399013:E841K	ENSP00000399013:E841K	E	+	1	0	CNTNAP5	125238185	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.726000	0.98782	2.724000	0.93272	0.655000	0.94253	GAA		0.373	CNTNAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330864.3			30	57	0	0	0	1	0	30	57					A	125521715	G	A	125521715	3	1	312	1	0	0	0	0	1	0	0	0	3650	1059	37	2	2583	2	CNTNAP5	2	125521715	Missense_Mutation	SNP	G	TCGA-KK-A6E1-01A-11D-A30X-08	16415260	125521715	117677658	6	16027											
NEB	4703	broad.mit.edu	37	chr2	152410424	152410424	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccattcgtggaggcgcaggCggtaatcaatctcactgact	9	10	11	11	3	2	1	2	1	1	0	5	2	3	2	1	4	0	2	1	4	2	2			TCGA-KK-A6E1-01A-11D-A30X-08	TCGA-KK-A6E1-11A-21D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13b7e087-b8c9-4aca-82d5-bad335e8c8ac	94ff6d8f-9403-4266-a6a8-0c264a0116fd	g.chr2:152410424C>T	ENST00000172853.10	-	98	14588	c.14441G>A	c.(14440-14442)cGc>cAc	p.R4814H	NEB_ENST00000397345.3_Missense_Mutation_p.R6515H|NEB_ENST00000427231.2_Missense_Mutation_p.R6515H|NEB_ENST00000409198.1_Missense_Mutation_p.R4814H|NEB_ENST00000603639.1_Missense_Mutation_p.R6515H|NEB_ENST00000604864.1_Missense_Mutation_p.R6515H			P20929	NEBU_HUMAN	nebulin	4814					muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		GAGGCGCAGGCGGTAATCAAT	0.468																																						ENST00000427231.2																			0				NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301						c.(19543-19545)cGc>cAc		nebulin							144	144	144					2																	152410424		1997	4174	6171	SO:0001583	missense	4703				muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle	g.chr2:152410424C>T	X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"nemaline myopathy type 2"	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.14441G>A	2.37:g.152410424C>T	ENSP00000172853:p.Arg4814His					NEB_ENST00000172853.10_Missense_Mutation_p.R4814H|NEB_ENST00000409198.1_Missense_Mutation_p.R4814H|NEB_ENST00000397345.3_Missense_Mutation_p.R6515H|NEB_ENST00000603639.1_Missense_Mutation_p.R6515H|NEB_ENST00000604864.1_Missense_Mutation_p.R6515H	p.R6515H	NM_001164507.1	NP_001157979.1	P20929	NEBU_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.219)	126	19746	-			4814			Interaction with SVIL.		F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Missense_Mutation	SNP	ENST00000172853.10	37	c.19544G>A		.	.	.	.	.	.	.	.	.	.	C	36	5.602972	0.96614	.	.	ENSG00000183091	ENST00000409198;ENST00000397345;ENST00000427231;ENST00000397342;ENST00000413693;ENST00000172853	T;T;T;T;T	0.52754	0.65;0.65;0.65;0.65;0.65	5.48	5.48	0.80851	.	0.000000	0.85682	D	0.000000	T	0.69628	0.3132	M	0.75447	2.3	0.80722	D	1	D;D	0.76494	0.998;0.999	P;D	0.67725	0.816;0.953	T	0.72899	-0.4152	10	0.87932	D	0	.	19.387	0.94560	0.0:1.0:0.0:0.0	.	4814;1245	P20929;Q14215	NEBU_HUMAN;.	H	4814;6515;6515;863;1245;4814	ENSP00000386259:R4814H;ENSP00000380505:R6515H;ENSP00000416578:R6515H;ENSP00000410961:R1245H;ENSP00000172853:R4814H	ENSP00000172853:R4814H	R	-	2	0	NEB	152118670	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	5.586000	0.67503	2.572000	0.86782	0.655000	0.94253	CGC		0.468	NEB-201	KNOWN	basic	protein_coding	protein_coding		NM_004543		36	48	0	0	0	1	0	36	48					T	152410424	C	T	152410424	3	4	312	1	0	0	0	0	1	0	0	0	10302	768	27	1	6370	1	NEB	2	152410424	Missense_Mutation	SNP	C	TCGA-KK-A6E1-01A-11D-A30X-08	26888709	152410424	90788949	7	16028											
DNER	92737	broad.mit.edu	37	chr2	230271991	230271991	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cacgtgccattcaggccgtcGctgtcacaggtggctccgtt	5	10	12	14	4	2	0	2	0	0	0	4	0	3	0	3	3	1	3	3	3	0	2	rs200801433	byFrequency	TCGA-KK-A6E1-01A-11D-A30X-08	TCGA-KK-A6E1-11A-21D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13b7e087-b8c9-4aca-82d5-bad335e8c8ac	94ff6d8f-9403-4266-a6a8-0c264a0116fd	g.chr2:230271991G>T	ENST00000341772.4	-	10	1814	c.1680C>A	c.(1678-1680)agC>agA	p.S560R		NM_139072.3	NP_620711.3	Q8NFT8	DNER_HUMAN	delta/notch-like EGF repeat containing	560	EGF-like 9. {ECO:0000255|PROSITE- ProRule:PRU00076}.|Follistatin-like.				central nervous system development (GO:0007417)|endocytosis (GO:0006897)|glial cell differentiation (GO:0010001)|neuron migration (GO:0001764)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|skeletal muscle fiber development (GO:0048741)|synapse assembly (GO:0007416)	dendrite (GO:0030425)|early endosome (GO:0005769)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|clathrin binding (GO:0030276)|transmembrane signaling receptor activity (GO:0004888)	p.S560S(1)		NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	63		all_lung(227;0.00413)|Renal(207;0.0113)|Lung NSC(271;0.0211)|all_hematologic(139;0.105)|Acute lymphoblastic leukemia(138;0.175)		Epithelial(121;1.4e-11)|all cancers(144;7.7e-09)|LUSC - Lung squamous cell carcinoma(224;0.034)|Lung(119;0.0375)		TCAGGCCGTCGCTGTCACAGG	0.512																																						ENST00000341772.4																			1	Substitution - coding silent(1)	p.S560S(1)	large_intestine(1)	NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	63						c.(1678-1680)agC>agA		delta/notch-like EGF repeat containing							140	125	130					2																	230271991		2203	4300	6503	SO:0001583	missense	92737				central nervous system development|endocytosis|neuron migration|Notch signaling pathway|synapse assembly	dendrite|early endosome|integral to membrane|plasma membrane	calcium ion binding|clathrin binding|transmembrane receptor activity	g.chr2:230271991G>T	AY358891	CCDS33390.1	2q36.3	2006-10-26			ENSG00000187957	ENSG00000187957			24456	protein-coding gene	gene with protein product		607299				11950833, 11997712	Standard	NM_139072		Approved	UNQ26, bet	uc002vpv.3	Q8NFT8	OTTHUMG00000153637	ENST00000341772.4:c.1680C>A	2.37:g.230271991G>T	ENSP00000345229:p.Ser560Arg						p.S560R	NM_139072.3	NP_620711.3	Q8NFT8	DNER_HUMAN		Epithelial(121;1.4e-11)|all cancers(144;7.7e-09)|LUSC - Lung squamous cell carcinoma(224;0.034)|Lung(119;0.0375)	10	1814	-		all_lung(227;0.00413)|Renal(207;0.0113)|Lung NSC(271;0.0211)|all_hematologic(139;0.105)|Acute lymphoblastic leukemia(138;0.175)	560			EGF-like 9.|Follistatin-like.		A6NP39|Q53R88|Q53TP7|Q53TQ5|Q8IYT0|Q8TB42|Q9NTF1|Q9UDM2	Missense_Mutation	SNP	ENST00000341772.4	37	c.1680C>A	CCDS33390.1	.	.	.	.	.	.	.	.	.	.	G	14.04	2.417508	0.42918	.	.	ENSG00000187957	ENST00000341772;ENST00000543700	D	0.93659	-3.26	5.6	-11.2	0.00127	Follistatin-like, N-terminal (1);Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.073593	0.85682	D	0.000000	D	0.92338	0.7569	L	0.41027	1.25	0.37874	D	0.930158	D	0.63046	0.992	P	0.56916	0.809	D	0.92487	0.5997	10	0.72032	D	0.01	.	23.7236	0.99985	0.2478:0.0:0.7522:0.0	.	560	Q8NFT8	DNER_HUMAN	R	560;278	ENSP00000345229:S560R	ENSP00000345229:S560R	S	-	3	2	DNER	229980235	0.004000	0.15560	0.039000	0.18376	0.688000	0.40055	-1.469000	0.02348	-2.653000	0.00423	-1.166000	0.01754	AGC		0.512	DNER-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331902.1	NM_139072		6	121	1	0	0.000442599	1	0.000442599	6	121					T	230271991	G	T	230271991	3	4	312	1	0	0	0	0	1	0	0	0	4667	1078	38	5	549	5	DNER	2	230271991	Missense_Mutation	SNP	G	TCGA-KK-A6E1-01A-11D-A30X-08	77861567	230271991	12927382	8	16029											
NBEAL2	23218	broad.mit.edu	37	chr3	47038461	47038461	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taggcttgtaagaacaacatCtgcctggacctgtcccccag	10	9	9	13	0	1	1	0	0	1	1	2	2	2	2	4	2	3	2	4	2	4	3			TCGA-KK-A6E1-01A-11D-A30X-08	TCGA-KK-A6E1-11A-21D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13b7e087-b8c9-4aca-82d5-bad335e8c8ac	94ff6d8f-9403-4266-a6a8-0c264a0116fd	g.chr3:47038461C>A	ENST00000450053.3	+	18	2753	c.2574C>A	c.(2572-2574)atC>atA	p.I858I	NBEAL2_ENST00000383740.2_5'UTR|NBEAL2_ENST00000292309.5_Silent_p.I858I	NM_015175.2	NP_055990.1	Q6ZNJ1	NBEL2_HUMAN	neurobeachin-like 2	858					blood coagulation (GO:0007596)|megakaryocyte development (GO:0035855)|platelet alpha granule organization (GO:0070889)|platelet formation (GO:0030220)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)				NS(1)|breast(1)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(9)|lung(9)|ovary(4)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Acute lymphoblastic leukemia(5;0.0534)		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)		AGAACAACATCTGCCTGGACC	0.622																																						ENST00000450053.3																			0				NS(1)|breast(1)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(9)|lung(9)|ovary(4)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	51						c.(2572-2574)atC>atA		neurobeachin-like 2							49	53	51					3																	47038461		2132	4269	6401	SO:0001819	synonymous_variant	23218						binding	g.chr3:47038461C>A	AB011112	CCDS46817.1	3p21.31	2014-09-17			ENSG00000160796	ENSG00000160796		"WD repeat domain containing"	31928	protein-coding gene	gene with protein product		614169					Standard	NM_015175		Approved	KIAA0540	uc003cqp.3	Q6ZNJ1	OTTHUMG00000156497	ENST00000450053.3:c.2574C>A	3.37:g.47038461C>A						NBEAL2_ENST00000383740.2_5'UTR|NBEAL2_ENST00000292309.5_Silent_p.I858I	p.I858I	NM_015175.2	NP_055990.1	Q6ZNJ1	NBEL2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)	18	2753	+		Acute lymphoblastic leukemia(5;0.0534)	858					O60288|Q6P994|Q6UX91|Q8NAC9	Silent	SNP	ENST00000450053.3	37	c.2574C>A	CCDS46817.1	.	.	.	.	.	.	.	.	.	.	C	6.038	0.375376	0.11409	.	.	ENSG00000160796	ENST00000416683	.	.	.	4.43	3.55	0.40652	.	.	.	.	.	T	0.69584	0.3127	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.67397	-0.5681	4	.	.	.	.	14.6301	0.68650	0.0:0.9188:0.0:0.0812	.	.	.	.	Y	330	.	.	S	+	2	0	NBEAL2	47013465	0.997000	0.39634	1.000000	0.80357	0.696000	0.40369	0.502000	0.22594	0.608000	0.30000	-1.598000	0.00824	TCT		0.622	NBEAL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344363.3	XM_291064		8	27	1	0	0.000274275	1	0.000282342	8	27					A	47038461	C	A	47038461	2	1	312	1	0	0	0	0	0	0	0	1	10189	903	32	5		5	NBEAL2	3	47038461	Silent	SNP	C	TCGA-KK-A6E1-01A-11D-A30X-08		47038461	150983969	9	16030											
PARP9	83666	broad.mit.edu	37	chr3	122274491	122274491	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	caatggccctctgcagctttCcagtacatccctgtttatcc	7	13	6	15	0	1	0	0	0	1	0	4	0	4	0	4	1	3	4	4	1	3	4			TCGA-KK-A6E1-01A-11D-A30X-08	TCGA-KK-A6E1-11A-21D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13b7e087-b8c9-4aca-82d5-bad335e8c8ac	94ff6d8f-9403-4266-a6a8-0c264a0116fd	g.chr3:122274491C>T	ENST00000360356.2	-	4	859	c.632G>A	c.(631-633)gGa>gAa	p.G211E	PARP9_ENST00000471785.1_Missense_Mutation_p.G176E|PARP9_ENST00000492382.1_Intron|PARP9_ENST00000462315.1_Missense_Mutation_p.G176E|PARP9_ENST00000477522.2_Missense_Mutation_p.G176E	NM_001146102.1|NM_031458.2	NP_001139574.1|NP_113646.2	Q8IXQ6	PARP9_HUMAN	poly (ADP-ribose) polymerase family, member 9	211	Macro 1. {ECO:0000255|PROSITE- ProRule:PRU00490}.				cell migration (GO:0016477)|double-strand break repair (GO:0006302)|regulation of response to interferon-gamma (GO:0060330)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	NAD+ ADP-ribosyltransferase activity (GO:0003950)			endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(3)	34				GBM - Glioblastoma multiforme(114;0.0519)		CTGCAGCTTTCCAGTACATCC	0.463																																						ENST00000462315.1																			0				endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(3)	34						c.(526-528)gGa>gAa		poly (ADP-ribose) polymerase family, member 9							74	71	72					3																	122274491		2203	4300	6503	SO:0001583	missense	83666				cell migration	cytosol|nucleus	NAD+ ADP-ribosyltransferase activity|protein binding	g.chr3:122274491C>T	AF307339	CCDS3014.1, CCDS54633.1, CCDS54634.1	3q13-q21	2010-02-16			ENSG00000138496	ENSG00000138496		"Poly (ADP-ribose) polymerases"	24118	protein-coding gene	gene with protein product		612065				11110709	Standard	NM_031458		Approved	BAL, BAL1	uc003efi.3	Q8IXQ6	OTTHUMG00000159522	ENST00000360356.2:c.632G>A	3.37:g.122274491C>T	ENSP00000353512:p.Gly211Glu					PARP9_ENST00000492382.1_Intron|PARP9_ENST00000471785.1_Missense_Mutation_p.G176E|PARP9_ENST00000360356.2_Missense_Mutation_p.G211E|PARP9_ENST00000477522.2_Missense_Mutation_p.G176E	p.G176E	NM_001146106.1	NP_001139578.1	Q8IXQ6	PARP9_HUMAN		GBM - Glioblastoma multiforme(114;0.0519)	4	820	-			211			Macro 1.		A8KA94|B2R8S9|E9PFM7|Q8TCP3|Q9BZL8|Q9BZL9	Missense_Mutation	SNP	ENST00000360356.2	37	c.527G>A	CCDS3014.1	.	.	.	.	.	.	.	.	.	.	C	0.690	-0.794820	0.02862	.	.	ENSG00000138496	ENST00000360356;ENST00000477522;ENST00000471785;ENST00000452457;ENST00000462315	T;T;T;T	0.17854	2.25;2.25;2.25;2.25	5.49	-6.51	0.01878	Appr-1-p processing (3);	4.359540	0.00166	N	0.000009	T	0.02970	0.0088	N	0.00493	-1.44	0.09310	N	1	B;B;B	0.06786	0.0;0.001;0.0	B;B;B	0.06405	0.002;0.001;0.001	T	0.35325	-0.9793	10	0.02654	T	1	.	1.6445	0.02759	0.2413:0.3124:0.089:0.3573	.	176;211;176	E9PFM7;Q8IXQ6;Q8IXQ6-2	.;PARP9_HUMAN;.	E	211;176;176;134;176	ENSP00000353512:G211E;ENSP00000419506:G176E;ENSP00000419001:G176E;ENSP00000418894:G176E	ENSP00000353512:G211E	G	-	2	0	PARP9	123757181	0.003000	0.15002	0.000000	0.03702	0.000000	0.00434	0.878000	0.28126	-0.864000	0.04078	-0.812000	0.03155	GGA		0.463	PARP9-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000355957.1	NM_031458		7	35	0	0	0	1	0	7	35					T	122274491	C	T	122274491	3	4	312	1	0	0	0	0	1	0	0	0	11466	855	30	3	2017	3	PARP9	3	122274491	Missense_Mutation	SNP	C	TCGA-KK-A6E1-01A-11D-A30X-08	75236030	122274491	75747939	10	16031											
ADCY5	111	broad.mit.edu	37	chr3	123049810	123049810	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcccttgcttcaggcagcccCgagacgcagtaataacaatc	11	7	9	14	2	1	1	1	0	0	1	2	2	1	1	3	1	3	4	3	1	3	4			TCGA-KK-A6E1-01A-11D-A30X-08	TCGA-KK-A6E1-11A-21D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13b7e087-b8c9-4aca-82d5-bad335e8c8ac	94ff6d8f-9403-4266-a6a8-0c264a0116fd	g.chr3:123049810C>T	ENST00000462833.1	-	5	2784	c.1572G>A	c.(1570-1572)tcG>tcA	p.S524S	ADCY5_ENST00000491190.1_Silent_p.S157S|ADCY5_ENST00000309879.5_Silent_p.S174S	NM_183357.2	NP_899200.1	O95622	ADCY5_HUMAN	adenylate cyclase 5	524	Guanylate cyclase 1. {ECO:0000255|PROSITE-ProRule:PRU00099}.				activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenosine receptor signaling pathway (GO:0001973)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|locomotory behavior (GO:0007626)|neuromuscular process controlling balance (GO:0050885)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|primary cilium (GO:0072372)	adenylate cyclase activity (GO:0004016)|adenylate cyclase binding (GO:0008179)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)			breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(22)|ovary(5)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(114;0.0342)		CAGGCAGCCCCGAGACGCAGT	0.478																																						ENST00000462833.1																			0				breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(22)|ovary(5)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	60						c.(1570-1572)tcG>tcA		adenylate cyclase 5							79	70	73					3																	123049810		2203	4300	6503	SO:0001819	synonymous_variant	111				activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding	g.chr3:123049810C>T	U65473	CCDS3022.1, CCDS56274.1	3q21.1	2013-02-04			ENSG00000173175	ENSG00000173175	4.6.1.1	"Adenylate cyclases"	236	protein-coding gene	gene with protein product		600293				10481931	Standard	NM_183357		Approved	AC5	uc003egh.2	O95622	OTTHUMG00000159517	ENST00000462833.1:c.1572G>A	3.37:g.123049810C>T						ADCY5_ENST00000491190.1_Silent_p.S157S|ADCY5_ENST00000309879.5_Silent_p.S174S	p.S524S	NM_183357.2	NP_899200.1	O95622	ADCY5_HUMAN		GBM - Glioblastoma multiforme(114;0.0342)	5	2784	-			524			Guanylate cyclase 1.		B7Z8A6|Q7RTV7|Q8NFM3	Silent	SNP	ENST00000462833.1	37	c.1572G>A	CCDS3022.1																																																																																				0.478	ADCY5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355889.4	XM_171048		8	37	0	0	0	1	0	8	37					T	123049810	C	T	123049810	2	4	312	1	0	0	0	0	0	0	0	1	297	639	23	2		2	ADCY5	3	123049810	Silent	SNP	C	TCGA-KK-A6E1-01A-11D-A30X-08	775319	123049810	74972620	11	16032											
DBR1	51163	broad.mit.edu	37	chr3	137880744	137880746	+	In_Frame_Del	DEL	TCA	TCA	-																															aatcatcttaagctgcatcgTcatcatcatcatccactgca																										TCGA-KK-A6E1-01A-11D-A30X-08	TCGA-KK-A6E1-11A-21D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13b7e087-b8c9-4aca-82d5-bad335e8c8ac	94ff6d8f-9403-4266-a6a8-0c264a0116fd	g.chr3:137880744_137880746delTCA	ENST00000260803.4	-	8	1773_1775	c.1620_1622delTGA	c.(1618-1623)gatgac>gac	p.540_541DD>D	DBR1_ENST00000505015.2_In_Frame_Del_p.306_307DD>D	NM_016216.3	NP_057300.2	Q9UK59	DBR1_HUMAN	debranching RNA lariats 1	540					mRNA splicing, via spliceosome (GO:0000398)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|RNA splicing, via transesterification reactions (GO:0000375)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|RNA lariat debranching enzyme activity (GO:0008419)			NS(1)|kidney(1)|large_intestine(4)|lung(8)|skin(1)	15						AGCTGCATCGTCATCATCATCAT	0.399																																						ENST00000260803.4																			0				NS(1)|kidney(1)|large_intestine(4)|lung(8)|skin(1)	15						c.(1618-1623)gac>ga		debranching RNA lariats 1																																				SO:0001651	inframe_deletion	51163					nucleus	metal ion binding|RNA lariat debranching enzyme activity	g.chr3:137880744_137880746delTCA	AF180919	CCDS33863.1	3q22.3	2013-05-01	2013-05-01		ENSG00000138231	ENSG00000138231			15594	protein-coding gene	gene with protein product		607024	"debranching enzyme (S. Cerevisiae) homolog 1", "debranching enzyme homolog 1 (S. cerevisiae)"			10982890	Standard	NM_016216		Approved		uc003erv.3	Q9UK59	OTTHUMG00000159824	ENST00000260803.4:c.1620_1622delTGA	3.37:g.137880753_137880755delTCA	ENSP00000260803:p.Asp542del					DBR1_ENST00000505015.2_In_Frame_Del_p.DD306del	p.DD540del	NM_016216.3	NP_057300.2	Q9UK59	DBR1_HUMAN			8	1773_1775	-			540					Q96GH0|Q9NXQ6	In_Frame_Del	DEL	ENST00000260803.4	37	c.1620_1622delTGA	CCDS33863.1																																																																																				0.399	DBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357585.1			7	475						7	475	---	---	---	---	-	137880746	TCA	-	137880744	7	5	312	1	0	1	0	1	0	0	0	0	4257	1667	58	0	16	0	DBR1	3	137880744	In_Frame_Del	DEL	TCA	TCGA-KK-A6E1-01A-11D-A30X-08	14830934	137880744	60141686	12	16033											
RGMB	285704	broad.mit.edu	37	chr5	98115306	98115306	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gactgccaacagccagcccaAtgtcgaatccagaaatgcac	14	5	8	14	1	0	1	0	0	0	1	2	3	1	1	4	0	5	1	4	0	4	0			TCGA-KK-A6E1-01A-11D-A30X-08	TCGA-KK-A6E1-11A-21D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13b7e087-b8c9-4aca-82d5-bad335e8c8ac	94ff6d8f-9403-4266-a6a8-0c264a0116fd	g.chr5:98115306A>C	ENST00000513185.1	+	2	595	c.159A>C	c.(157-159)caA>caC	p.Q53H	RGMB_ENST00000308234.7_Missense_Mutation_p.Q94H|RGMB_ENST00000504776.1_3'UTR			Q6NW40	RGMB_HUMAN	repulsive guidance molecule family member b	53					axon guidance (GO:0007411)|BMP signaling pathway (GO:0030509)|cell adhesion (GO:0007155)|positive regulation of transcription, DNA-templated (GO:0045893)|signal transduction (GO:0007165)	anchored component of plasma membrane (GO:0046658)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)	identical protein binding (GO:0042802)			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(2)|upper_aerodigestive_tract(1)	10		all_cancers(142;2.76e-08)|all_epithelial(76;2.98e-11)|all_lung(232;0.000485)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|Ovarian(225;0.024)|Colorectal(57;0.117)		COAD - Colon adenocarcinoma(37;0.0587)		AGCCAGCCCAATGTCGAATCC	0.468																																						ENST00000308234.7																			0				haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(2)|upper_aerodigestive_tract(1)	10						c.(280-282)caA>caC		repulsive guidance molecule family member b							184	185	184					5																	98115306		2008	4159	6167	SO:0001583	missense	285704				axon guidance|BMP signaling pathway|cell adhesion|positive regulation of transcription, DNA-dependent	anchored to plasma membrane|ER-Golgi intermediate compartment|membrane raft	identical protein binding	g.chr5:98115306A>C	AK074887	CCDS47251.1	5q21.1	2013-11-06	2013-11-06		ENSG00000174136	ENSG00000174136			26896	protein-coding gene	gene with protein product		612687	"RGM domain family, member B"			19324014	Standard	NM_001012761		Approved	FLJ90406, DRAGON	uc003knc.3	Q6NW40	OTTHUMG00000162745	ENST00000513185.1:c.159A>C	5.37:g.98115306A>C	ENSP00000423256:p.Gln53His					RGMB_ENST00000513185.1_Missense_Mutation_p.Q53H|RGMB_ENST00000504776.1_3'UTR	p.Q94H	NM_001012761.2	NP_001012779.2	Q6NW40	RGMB_HUMAN		COAD - Colon adenocarcinoma(37;0.0587)	4	684	+		all_cancers(142;2.76e-08)|all_epithelial(76;2.98e-11)|all_lung(232;0.000485)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|Ovarian(225;0.024)|Colorectal(57;0.117)	53					D6R9A0|Q8NC92	Missense_Mutation	SNP	ENST00000513185.1	37	c.282A>C		.	.	.	.	.	.	.	.	.	.	A	18.14	3.557021	0.65425	.	.	ENSG00000174136	ENST00000308234;ENST00000513185	D;D	0.94046	-3.34;-3.32	5.31	-10.0	0.00425	Repulsive guidance molecule, N-terminal (1);	0.172886	0.52532	D	0.000065	D	0.93184	0.7829	M	0.66939	2.045	0.40383	D	0.979469	D	0.61080	0.989	D	0.63113	0.911	D	0.95809	0.8840	10	0.46703	T	0.11	-6.651	12.6552	0.56784	0.5297:0.0:0.3961:0.0742	.	53	Q6NW40	RGMB_HUMAN	H	94;53	ENSP00000308219:Q94H;ENSP00000423256:Q53H	ENSP00000308219:Q94H	Q	+	3	2	RGMB	98143206	0.531000	0.26338	0.128000	0.21923	0.893000	0.52053	-0.211000	0.09332	-2.672000	0.00413	-1.204000	0.01649	CAA		0.468	RGMB-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000370308.1	NM_173670		88	108	0	0	0	1	0	88	108					C	98115306	A	C	98115306	3	2	312	1	0	0	0	0	1	0	0	0	13281	98	4	5	292	5	RGMB	5	98115306	Missense_Mutation	SNP	A	TCGA-KK-A6E1-01A-11D-A30X-08		98115306	82799954	13	16034											
PCDHGB7	56099	broad.mit.edu	37	chr5	140799248	140799248	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgcctggctgtcctaccacGtggtgcaggccagtgagccc	6	8	13	14	1	0	1	0	1	0	0	1	1	1	1	5	3	4	2	5	3	1	1	rs377117997		TCGA-KK-A6E1-01A-11D-A30X-08	TCGA-KK-A6E1-11A-21D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13b7e087-b8c9-4aca-82d5-bad335e8c8ac	94ff6d8f-9403-4266-a6a8-0c264a0116fd	g.chr5:140799248G>A	ENST00000398594.2	+	1	1822	c.1822G>A	c.(1822-1824)Gtg>Atg	p.V608M	PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA11_ENST00000398587.2_5'Flank|PCDHGA7_ENST00000518325.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA11_ENST00000518882.1_5'Flank|PCDHGB4_ENST00000519479.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron	NM_018927.3	NP_061750.1	Q9Y5F8	PCDGJ_HUMAN	protocadherin gamma subfamily B, 7	608	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(13)|lung(15)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(3)	56			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTCCTACCACGTGGTGCAGGC	0.687																																						ENST00000398594.2																			0				central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(13)|lung(15)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(3)	56						c.(1822-1824)Gtg>Atg				G	,,,,,,,,,,,,,,,MET/VAL,,MET/VAL	0,4382		0,0,2191	37	42	41		,,,,,,,,,,,,,,,1822,,1822	3.8	1	5		41	2,8590		0,2,4294	no	intron,intron,intron,intron,intron,intron,intron,intron,intron,intron,intron,intron,intron,intron,intron,missense,intron,missense	PCDHGB4,PCDHGA8,PCDHGB7,PCDHGB6,PCDHGB5,PCDHGB3,PCDHGB2,PCDHGB1,PCDHGA10,PCDHGA9,PCDHGA7,PCDHGA6,PCDHGA5,PCDHGA4,PCDHGA3,PCDHGA2,PCDHGA1	NM_003736.2,NM_018912.2,NM_018913.2,NM_018915.2,NM_018916.3,NM_018917.2,NM_018918.2,NM_018919.2,NM_018920.2,NM_018921.2,NM_018922.2,NM_018923.2,NM_018924.2,NM_018925.2,NM_018926.2,NM_018927.3,NM_032088.1,NM_032101.2	,,,,,,,,,,,,,,,21,,21	0,2,6485	AA,AG,GG		0.0233,0.0,0.0154	,,,,,,,,,,,,,,,,,	,,,,,,,,,,,,,,,608/930,,608/809	140799248	2,12972	2191	4296	6487	SO:0001583	missense	0							g.chr5:140799248G>A	AF152523	CCDS47293.1, CCDS75344.1	5q31	2010-01-26			ENSG00000254122	ENSG00000254122		"Cadherins / Protocadherins : Clustered"	8714	other	protocadherin	"cadherin ME6"	606304				10380929	Standard	NM_032101		Approved	ME6, PCDH-GAMMA-B7		Q9Y5F8	OTTHUMG00000164054	ENST00000398594.2:c.1822G>A	5.37:g.140799248G>A	ENSP00000381594:p.Val608Met					PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB6_ENST00000520790.1_Intron	p.V608M	NM_018927.3	NP_061750.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1822	+								Q9UN63	Missense_Mutation	SNP	ENST00000398594.2	37	c.1822G>A	CCDS47293.1	.	.	.	.	.	.	.	.	.	.	g	13.69	2.311377	0.40895	0.0	2.33E-4	ENSG00000254122	ENST00000398594	T	0.52295	0.67	5.57	3.78	0.43462	Cadherin (4);Cadherin-like (1);	0.000000	0.30076	U	0.010477	T	0.53449	0.1797	L	0.52823	1.66	0.23249	N	0.998042	D;D	0.71674	0.998;0.993	P;P	0.60473	0.875;0.705	T	0.47045	-0.9147	10	0.62326	D	0.03	.	4.1663	0.10308	0.0761:0.1739:0.5018:0.2483	.	608;608	Q9Y5F8;Q9Y5F8-2	PCDGJ_HUMAN;.	M	608	ENSP00000381594:V608M	ENSP00000381594:V608M	V	+	1	0	PCDHGB7	140779432	0.001000	0.12720	1.000000	0.80357	0.586000	0.36452	-0.045000	0.12003	0.701000	0.31803	-0.424000	0.05967	GTG		0.687	PCDHGB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376973.1	NM_018927		4	105	0	0	0	1	0	4	105					A	140799248	G	A	140799248	3	1	312	1	0	0	0	0	1	0	0	0	11568	1145	40	1	1824	1	PCDHGB7	5	140799248	Missense_Mutation	SNP	G	TCGA-KK-A6E1-01A-11D-A30X-08	42683942	140799248	40116012	14	16035											
PCDH12	51294	broad.mit.edu	37	chr5	141336228	141336228	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tttcagcctgaagtggcccaGctcttggctcagccagcagt	7	10	11	13	0	3	1	2	1	1	0	3	1	3	1	3	2	4	3	3	2	1	2			TCGA-KK-A6E1-01A-11D-A30X-08	TCGA-KK-A6E1-11A-21D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13b7e087-b8c9-4aca-82d5-bad335e8c8ac	94ff6d8f-9403-4266-a6a8-0c264a0116fd	g.chr5:141336228G>C	ENST00000231484.3	-	1	2399	c.1189C>G	c.(1189-1191)Ctg>Gtg	p.L397V	PCDH12_ENST00000512221.1_5'Flank	NM_016580.2	NP_057664.1	Q9NPG4	PCD12_HUMAN	protocadherin 12	397	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|glycogen metabolic process (GO:0005977)|homophilic cell adhesion (GO:0007156)|labyrinthine layer development (GO:0060711)|neuron recognition (GO:0008038)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(3)|prostate(2)|skin(1)	38		all_hematologic(541;0.0999)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AAGTGGCCCAGCTCTTGGCTC	0.488																																						ENST00000231484.3																			0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(3)|prostate(2)|skin(1)	38						c.(1189-1191)Ctg>Gtg		protocadherin 12							122	114	117					5																	141336228		2203	4300	6503	SO:0001583	missense	51294				neuron recognition	integral to plasma membrane	calcium ion binding	g.chr5:141336228G>C	AF231025	CCDS4269.1	5q31.3	2010-01-26			ENSG00000113555	ENSG00000113555		"Cadherins / Protocadherins : Non-clustered"	8657	protein-coding gene	gene with protein product		605622				10716726, 10380929	Standard	NM_016580		Approved	VE-cadherin-2	uc003llx.3	Q9NPG4	OTTHUMG00000129658	ENST00000231484.3:c.1189C>G	5.37:g.141336228G>C	ENSP00000231484:p.Leu397Val						p.L397V	NM_016580.2	NP_057664.1	Q9NPG4	PCD12_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2399	-		all_hematologic(541;0.0999)	397			Cadherin 4.		Q6UXB6|Q96KB8|Q9H7Y6|Q9H8E0	Missense_Mutation	SNP	ENST00000231484.3	37	c.1189C>G	CCDS4269.1	.	.	.	.	.	.	.	.	.	.	G	5.344	0.248714	0.10130	.	.	ENSG00000113555	ENST00000231484	T	0.51325	0.71	4.92	3.14	0.36123	Cadherin (4);Cadherin-like (1);	0.654660	0.15426	N	0.262968	T	0.29783	0.0744	L	0.28054	0.825	0.09310	N	1	P	0.37573	0.6	B	0.36808	0.233	T	0.11348	-1.0591	10	0.08599	T	0.76	.	9.4304	0.38606	0.1547:0.0:0.8453:0.0	.	397	Q9NPG4	PCD12_HUMAN	V	397	ENSP00000231484:L397V	ENSP00000231484:L397V	L	-	1	2	PCDH12	141316412	0.000000	0.05858	0.836000	0.33094	0.996000	0.88848	0.678000	0.25277	0.675000	0.31264	0.561000	0.74099	CTG		0.488	PCDH12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251858.1	NM_016580		5	96	0	0	0	1	0	5	96					C	141336228	G	C	141336228	3	2	312	1	0	0	0	0	1	0	0	0	11510	962	34	5	2381	5	PCDH12	5	141336228	Missense_Mutation	SNP	G	TCGA-KK-A6E1-01A-11D-A30X-08	536980	141336228	39579032	15	16036											
TNRC18	84629	broad.mit.edu	37	chr7	5363890	5363890	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cccgccacgcggcaggtgctCgtcctcagagaagctcgagt	7	6	13	15	5	1	1	1	0	0	1	4	3	2	1	3	2	2	3	3	2	1	0			TCGA-KK-A6E1-01A-11D-A30X-08	TCGA-KK-A6E1-11A-21D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13b7e087-b8c9-4aca-82d5-bad335e8c8ac	94ff6d8f-9403-4266-a6a8-0c264a0116fd	g.chr7:5363890C>T	ENST00000430969.1	-	21	6745	c.6397G>A	c.(6397-6399)Gag>Aag	p.E2133K	TNRC18_ENST00000399537.4_Missense_Mutation_p.E2133K	NM_001080495.2	NP_001073964.2	O15417	TNC18_HUMAN	trinucleotide repeat containing 18	2133							chromatin binding (GO:0003682)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)	11		Ovarian(82;0.142)		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)		GGCAGGTGCTCGTCCTCAGAG	0.682																																						ENST00000399537.4																			0				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)	11						c.(6397-6399)Gag>Aag		trinucleotide repeat containing 18							27	31	30					7																	5363890		1568	3582	5150	SO:0001583	missense	84629						DNA binding	g.chr7:5363890C>T	U80753	CCDS47534.1	7p22.1	2012-04-17			ENSG00000182095	ENSG00000182095		"Trinucleotide (CAG) repeat containing"	11962	protein-coding gene	gene with protein product						9225980	Standard	NM_001080495		Approved	CAGL79, TNRC18A, KIAA1856	uc003soi.4	O15417	OTTHUMG00000151831	ENST00000430969.1:c.6397G>A	7.37:g.5363890C>T	ENSP00000395538:p.Glu2133Lys					TNRC18_ENST00000430969.1_Missense_Mutation_p.E2133K	p.E2133K			O15417	TNC18_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)	21	6745	-		Ovarian(82;0.142)	2133					A8MX41|Q96JH1|Q96K91	Missense_Mutation	SNP	ENST00000430969.1	37	c.6397G>A	CCDS47534.1	.	.	.	.	.	.	.	.	.	.	c	17.82	3.484066	0.63962	.	.	ENSG00000182095	ENST00000399537;ENST00000430969	T;T	0.25085	1.84;1.82	3.97	3.97	0.46021	.	.	.	.	.	T	0.46092	0.1375	L	0.55481	1.735	0.43255	D	0.995185	D	0.89917	1.0	D	0.78314	0.991	T	0.48614	-0.9020	9	0.59425	D	0.04	.	15.9715	0.80025	0.0:1.0:0.0:0.0	.	2133	O15417	TNC18_HUMAN	K	2133	ENSP00000382452:E2133K;ENSP00000395538:E2133K	ENSP00000382452:E2133K	E	-	1	0	TNRC18	5330416	1.000000	0.71417	0.976000	0.42696	0.025000	0.11179	6.977000	0.76141	1.927000	0.55829	0.313000	0.20887	GAG		0.682	TNRC18-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding				5	25	0	0	0	1	0	5	25					T	5363890	C	T	5363890	3	4	312	1	0	0	0	0	1	0	0	0	16336	893	31	2	2549	2	TNRC18	7	5363890	Missense_Mutation	SNP	C	TCGA-KK-A6E1-01A-11D-A30X-08		5363890	153774773	16	16037											
TEX15	56154	broad.mit.edu	37	chr8	30701886	30701886	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgtcaagtcagactgcgagtCtttactaactttaatttccc	10	15	6	10	1	3	1	2	0	1	1	4	2	4	1	1	0	3	0	1	0	4	6			TCGA-KK-A6E1-01A-11D-A30X-08	TCGA-KK-A6E1-11A-21D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13b7e087-b8c9-4aca-82d5-bad335e8c8ac	94ff6d8f-9403-4266-a6a8-0c264a0116fd	g.chr8:30701886C>T	ENST00000256246.2	-	1	4722	c.4648G>A	c.(4648-4650)Gac>Aac	p.D1550N		NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	1550					fertilization (GO:0009566)|homeostasis of number of cells within a tissue (GO:0048873)|male genitalia development (GO:0030539)|male meiosis (GO:0007140)|protein localization to chromosome (GO:0034502)|regulation of double-strand break repair via homologous recombination (GO:0010569)|regulation of protein localization (GO:0032880)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)					NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		GACTGCGAGTCTTTACTAACT	0.388																																						ENST00000256246.2																			0				NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138						c.(4648-4650)Gac>Aac		testis expressed 15							192	191	191					8																	30701886		2203	4300	6503	SO:0001583	missense	56154							g.chr8:30701886C>T	AF285605	CCDS6080.1	8p22	2009-03-25	2007-03-13			ENSG00000133863			11738	protein-coding gene	gene with protein product	"cancer/testis antigen 42"	605795	"testis expressed sequence 15"			11279525	Standard	NM_031271		Approved	CT42	uc003xil.3	Q9BXT5		ENST00000256246.2:c.4648G>A	8.37:g.30701886C>T	ENSP00000256246:p.Asp1550Asn						p.D1550N	NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)	1	4722	-			1550						Missense_Mutation	SNP	ENST00000256246.2	37	c.4648G>A	CCDS6080.1	.	.	.	.	.	.	.	.	.	.	C	10.32	1.316442	0.23908	.	.	ENSG00000133863	ENST00000256246	T	0.11821	2.74	5.47	1.57	0.23409	.	0.636064	0.15283	N	0.270573	T	0.07954	0.0199	N	0.20685	0.6	0.09310	N	1	B	0.06786	0.001	B	0.09377	0.004	T	0.30179	-0.9987	10	0.87932	D	0	.	4.5403	0.12054	0.0:0.5347:0.1809:0.2844	.	1550	Q9BXT5	TEX15_HUMAN	N	1550	ENSP00000256246:D1550N	ENSP00000256246:D1550N	D	-	1	0	TEX15	30821428	0.001000	0.12720	0.000000	0.03702	0.015000	0.08874	-0.054000	0.11826	0.064000	0.16427	0.655000	0.94253	GAC		0.388	TEX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376193.1			38	70	0	0	0	1	0	38	70					T	30701886	C	T	30701886	3	4	312	1	0	0	0	0	1	0	0	0	15776	913	32	3	3737	3	TEX15	8	30701886	Missense_Mutation	SNP	C	TCGA-KK-A6E1-01A-11D-A30X-08		30701886	115662136	17	16038											
IL11RA	3590	broad.mit.edu	37	chr9	34657044	34657044	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctctagaccctccagcccGccctgttgtctcctgccaag	5	9	8	19	1	2	1	0	0	2	1	4	1	3	1	7	0	2	1	7	0	2	2	rs201997285		TCGA-KK-A6E1-01A-11D-A30X-08	TCGA-KK-A6E1-11A-21D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13b7e087-b8c9-4aca-82d5-bad335e8c8ac	94ff6d8f-9403-4266-a6a8-0c264a0116fd	g.chr9:34657044G>A	ENST00000555003.1	+	5	1700	c.344G>A	c.(343-345)cGc>cAc	p.R115H	IL11RA_ENST00000318041.9_Missense_Mutation_p.R115H|IL11RA_ENST00000378817.4_Missense_Mutation_p.R115H|IL11RA_ENST00000478802.2_3'UTR|GALT_ENST00000556278.1_Missense_Mutation_p.R259H|IL11RA_ENST00000441545.2_Missense_Mutation_p.R115H|IL11RA_ENST00000602473.1_Missense_Mutation_p.R115H			Q14626	I11RA_HUMAN	interleukin 11 receptor, alpha	115	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				developmental process (GO:0032502)|embryo implantation (GO:0007566)|head development (GO:0060322)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)	cytokine receptor activity (GO:0004896)|signal transducer activity (GO:0004871)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|large_intestine(1)|ovary(1)|skin(1)	4	all_epithelial(49;0.102)		STAD - Stomach adenocarcinoma(86;0.178)	GBM - Glioblastoma multiforme(74;0.174)	Oprelvekin(DB00038)	CCTCCAGCCCGCCCTGTTGTC	0.592																																						ENST00000555003.1																			0				breast(1)|large_intestine(1)|ovary(1)|skin(1)	4						c.(343-345)cGc>cAc		interleukin 11 receptor, alpha	Oprelvekin(DB00038)						90	78	82					9																	34657044		2203	4300	6503	SO:0001583	missense	3590					integral to plasma membrane	cytokine receptor activity	g.chr9:34657044G>A	Z38102	CCDS6567.1	9p13	2014-05-22			ENSG00000137070	ENSG00000137070		"Interleukins and interleukin receptors", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5967	protein-coding gene	gene with protein product		600939				7670098	Standard	NM_001142784		Approved		uc011loq.3	Q14626	OTTHUMG00000019837	ENST00000555003.1:c.344G>A	9.37:g.34657044G>A	ENSP00000450565:p.Arg115His					IL11RA_ENST00000602473.1_Missense_Mutation_p.R115H|GALT_ENST00000556278.1_Missense_Mutation_p.259_259insH|IL11RA_ENST00000441545.2_Missense_Mutation_p.R115H|IL11RA_ENST00000478802.2_3'UTR|IL11RA_ENST00000378817.4_Missense_Mutation_p.R115H|IL11RA_ENST00000318041.9_Missense_Mutation_p.R115H	p.R115H			Q14626	I11RA_HUMAN	STAD - Stomach adenocarcinoma(86;0.178)	GBM - Glioblastoma multiforme(74;0.174)	5	1700	+	all_epithelial(49;0.102)		115			Fibronectin type-III 1.		Q16542|Q5VZ80|Q7KYJ7	Missense_Mutation	SNP	ENST00000555003.1	37	c.344G>A	CCDS6567.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.129436	0.77549	.	.	ENSG00000258728;ENSG00000137070;ENSG00000137070;ENSG00000137070;ENSG00000137070;ENSG00000137070;ENSG00000137070;ENSG00000137070;ENSG00000137070	ENST00000556278;ENST00000555003;ENST00000441545;ENST00000553620;ENST00000556792;ENST00000378817;ENST00000318041;ENST00000556531;ENST00000555981	T;T;T;T;T;T;T;T;T	0.36340	1.26;1.26;1.26;1.26;1.26;1.26;1.26;1.26;1.26	5.22	5.22	0.72569	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.624249	0.17179	N	0.183980	T	0.48874	0.1524	L	0.54323	1.7	0.38950	D	0.958334	D	0.69078	0.997	P	0.56700	0.804	T	0.45659	-0.9246	10	0.40728	T	0.16	-5.2778	14.2807	0.66211	0.0:0.0:1.0:0.0	.	115	Q14626	I11RA_HUMAN	H	259;115;115;38;115;115;115;115;115	ENSP00000451792:R259H;ENSP00000450565:R115H;ENSP00000394391:R115H;ENSP00000452207:R38H;ENSP00000450543:R115H;ENSP00000368094:R115H;ENSP00000326500:R115H;ENSP00000451447:R115H;ENSP00000450640:R115H	ENSP00000326500:R115H	R	+	2	0	RP11-195F19.29;IL11RA	34647044	0.969000	0.33509	0.999000	0.59377	0.993000	0.82548	2.584000	0.46102	2.425000	0.82216	0.655000	0.94253	CGC		0.592	IL11RA-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410625.1	NM_001142784		24	58	0	0	0	1	0	24	58					A	34657044	G	A	34657044	3	1	312	1	0	0	0	0	1	0	0	0	7623	1087	38	1	358	1	IL11RA	9	34657044	Missense_Mutation	SNP	G	TCGA-KK-A6E1-01A-11D-A30X-08		34657044	106556387	18	16039											
MYO3A	53904	broad.mit.edu	37	chr10	26377234	26377234	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atgacaattctagcagatttGgaaaatacttagaaatgaaa	19	11	7	4	0	1	4	0	2	1	2	1	5	1	5	0	1	2	1	0	1	8	5			TCGA-KK-A6E1-01A-11D-A30X-08	TCGA-KK-A6E1-11A-21D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13b7e087-b8c9-4aca-82d5-bad335e8c8ac	94ff6d8f-9403-4266-a6a8-0c264a0116fd	g.chr10:26377234G>T	ENST00000265944.5	+	15	1628	c.1462G>T	c.(1462-1464)Gga>Tga	p.G488*	MYO3A_ENST00000543632.1_Nonsense_Mutation_p.G488*	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	488	Myosin motor.				ATP catabolic process (GO:0006200)|inner ear development (GO:0048839)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of filopodium assembly (GO:0051491)|protein autophosphorylation (GO:0046777)|response to stimulus (GO:0050896)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|filamentous actin (GO:0031941)|filopodium (GO:0030175)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|photoreceptor inner segment (GO:0001917)|stereocilium bundle tip (GO:0032426)	actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|plus-end directed microfilament motor activity (GO:0060002)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						TAGCAGATTTGGAAAATACTT	0.378																																						ENST00000265944.5																			0				NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						c.(1462-1464)Gga>Tga		myosin IIIA							65	68	67					10																	26377234		2203	4300	6503	SO:0001587	stop_gained	53904				protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity	g.chr10:26377234G>T	AF229172	CCDS7148.1	10p11.1	2011-09-27	2004-05-19		ENSG00000095777	ENSG00000095777		"Myosins / Myosin superfamily : Class III"	7601	protein-coding gene	gene with protein product		606808	"deafness, autosomal recessive 30"	DFNB30		10936054	Standard	NM_017433		Approved		uc001isn.2	Q8NEV4	OTTHUMG00000017837	ENST00000265944.5:c.1462G>T	10.37:g.26377234G>T	ENSP00000265944:p.Gly488*					MYO3A_ENST00000543632.1_Nonsense_Mutation_p.G488*	p.G488*	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN			15	1628	+			488			Myosin head-like.		Q4G0X2|Q5VZ28|Q8WX17|Q9NYS8	Nonsense_Mutation	SNP	ENST00000265944.5	37	c.1462G>T	CCDS7148.1	.	.	.	.	.	.	.	.	.	.	G	40	8.396530	0.98794	.	.	ENSG00000095777	ENST00000265944;ENST00000543632	.	.	.	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	19.8413	0.96690	0.0:0.0:1.0:0.0	.	.	.	.	X	488	.	ENSP00000265944:G488X	G	+	1	0	MYO3A	26417240	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.813000	0.99286	2.779000	0.95612	0.655000	0.94253	GGA		0.378	MYO3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047259.1	NM_017433		31	55	1	0	7.16923e-06	1	7.84134e-06	31	55					T	26377234	G	T	26377234	4	4	312	1	0	0	0	0	0	1	0	0	10076	1349	47	5	1512	5	MYO3A	10	26377234	Nonsense_Mutation	SNP	G	TCGA-KK-A6E1-01A-11D-A30X-08		26377234	109157513	19	16040											
A1CF	29974	broad.mit.edu	37	chr10	52596043	52596043	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ataatcggcagttgtccacaCtggcacaaacccctaagagg	13	7	9	12	1	0	1	0	0	0	1	2	1	1	1	3	3	1	3	3	3	3	3			TCGA-KK-A6E1-01A-11D-A30X-08	TCGA-KK-A6E1-11A-21D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13b7e087-b8c9-4aca-82d5-bad335e8c8ac	94ff6d8f-9403-4266-a6a8-0c264a0116fd	g.chr10:52596043C>T	ENST00000373993.1	-	4	439	c.395G>A	c.(394-396)aGt>aAt	p.S132N	A1CF_ENST00000373997.3_Missense_Mutation_p.S132N|A1CF_ENST00000395495.1_Missense_Mutation_p.S132N|A1CF_ENST00000282641.2_Missense_Mutation_p.S132N|A1CF_ENST00000395489.2_Missense_Mutation_p.S125N|A1CF_ENST00000374001.2_Missense_Mutation_p.S132N|A1CF_ENST00000373995.3_Missense_Mutation_p.S140N			Q9NQ94	A1CF_HUMAN	APOBEC1 complementation factor	132	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				cytidine to uridine editing (GO:0016554)|gene expression (GO:0010467)|mRNA modification (GO:0016556)|mRNA processing (GO:0006397)|protein stabilization (GO:0050821)	apolipoprotein B mRNA editing enzyme complex (GO:0030895)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)|single-stranded RNA binding (GO:0003727)			NS(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(14)|prostate(2)|skin(3)	29						GTTGTCCACACTGGCACAAAC	0.433																																						ENST00000395489.2																			0				NS(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(14)|prostate(2)|skin(3)	29						c.(373-375)aGt>aAt		APOBEC1 complementation factor							71	72	71					10																	52596043		2203	4300	6503	SO:0001583	missense	29974				cytidine to uridine editing|mRNA modification|mRNA processing|protein stabilization	apolipoprotein B mRNA editing enzyme complex|endoplasmic reticulum|nucleoplasm	nucleotide binding|protein binding|single-stranded RNA binding	g.chr10:52596043C>T	AF271790	CCDS7241.1, CCDS7242.1, CCDS7243.1, CCDS73133.1	10q21.1	2013-02-12			ENSG00000148584	ENSG00000148584		"RNA binding motif (RRM) containing"	24086	protein-coding gene	gene with protein product						11815617, 11072063	Standard	NM_014576		Approved	ACF, ASP, ACF64, ACF65, APOBEC1CF	uc001jjj.3	Q9NQ94	OTTHUMG00000018240	ENST00000373993.1:c.395G>A	10.37:g.52596043C>T	ENSP00000363105:p.Ser132Asn					A1CF_ENST00000282641.2_Missense_Mutation_p.S132N|A1CF_ENST00000395495.1_Missense_Mutation_p.S132N|A1CF_ENST00000373995.3_Missense_Mutation_p.S140N|A1CF_ENST00000373997.3_Missense_Mutation_p.S132N|A1CF_ENST00000374001.1_Missense_Mutation_p.S132N|A1CF_ENST00000373993.1_Missense_Mutation_p.S132N	p.S125N	NM_001198819.1	NP_001185748.1	Q9NQ94	A1CF_HUMAN			8	770	-			132			RRM 1.		A1L4F2|A8K7G7|B7ZM14|Q5SZQ0|Q9NQ93|Q9NQX8|Q9NQX9|Q9NXC9|Q9NZD3	Missense_Mutation	SNP	ENST00000373993.1	37	c.374G>A	CCDS7242.1	.	.	.	.	.	.	.	.	.	.	C	32	5.178742	0.94846	.	.	ENSG00000148584	ENST00000374001;ENST00000373993;ENST00000373997;ENST00000373995;ENST00000282641;ENST00000395495;ENST00000395488;ENST00000395489;ENST00000414883	T;T;T;T;T;T;T;T	0.15834	2.4;2.39;2.4;3.22;2.39;3.22;3.22;3.22	6.04	6.04	0.98038	RNA recognition motif domain (1);	0.000000	0.85682	D	0.000000	T	0.53786	0.1818	M	0.92367	3.3	0.80722	D	1	B;B;P;P	0.48998	0.176;0.11;0.918;0.52	P;B;D;P	0.69654	0.505;0.226;0.965;0.683	T	0.61232	-0.7104	10	0.87932	D	0	-10.6991	18.0887	0.89466	0.0:1.0:0.0:0.0	.	125;132;132;140	F8W9F8;Q9NQ94;Q9NQ94-2;Q9NQ94-4	.;A1CF_HUMAN;.;.	N	132;132;132;140;132;132;115;125;132	ENSP00000363113:S132N;ENSP00000363105:S132N;ENSP00000363109:S132N;ENSP00000363107:S140N;ENSP00000282641:S132N;ENSP00000378873:S132N;ENSP00000378868:S125N;ENSP00000397953:S132N	ENSP00000282641:S132N	S	-	2	0	A1CF	52266049	1.000000	0.71417	0.977000	0.42913	0.970000	0.65996	7.731000	0.84895	2.873000	0.98535	0.563000	0.77884	AGT		0.433	A1CF-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048086.2	NM_014576		31	39	0	0	0	1	0	31	39					T	52596043	C	T	52596043	3	4	312	1	0	0	0	0	1	0	0	0	2	565	20	3	1421	3	A1CF	10	52596043	Missense_Mutation	SNP	C	TCGA-KK-A6E1-01A-11D-A30X-08	26218809	52596043	82938704	20	16041											
PTEN	5728	broad.mit.edu	37	chr10	89692959	89692960	+	Frame_Shift_Ins	INS	-	-	A																															cggggcaaatttttaaaggcINSacaagaggccctagatttct																										TCGA-KK-A6E1-01A-11D-A30X-08	TCGA-KK-A6E1-11A-21D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13b7e087-b8c9-4aca-82d5-bad335e8c8ac	94ff6d8f-9403-4266-a6a8-0c264a0116fd	g.chr10:89692959_89692960insA	ENST00000371953.3	+	5	1800_1801	c.443_444insA	c.(442-447)gcacaafs	p.Q149fs		NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	149	Phosphatase tensin-type. {ECO:0000255|PROSITE-ProRule:PRU00590}.				activation of mitotic anaphase-promoting complex activity (GO:0007092)|aging (GO:0007568)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|brain morphogenesis (GO:0048854)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle tissue development (GO:0048738)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|central nervous system myelin maintenance (GO:0032286)|central nervous system neuron axonogenesis (GO:0021955)|dendritic spine morphogenesis (GO:0060997)|dentate gyrus development (GO:0021542)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|innate immune response (GO:0045087)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|learning or memory (GO:0007611)|locomotor rhythm (GO:0045475)|locomotory behavior (GO:0007626)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|male mating behavior (GO:0060179)|maternal behavior (GO:0042711)|memory (GO:0007613)|multicellular organismal response to stress (GO:0033555)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell aging (GO:0090344)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031658)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myelination (GO:0031642)|negative regulation of organ growth (GO:0046621)|negative regulation of phagocytosis (GO:0050765)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of ribosome biogenesis (GO:0090071)|negative regulation of synaptic vesicle clustering (GO:2000808)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell proliferation (GO:0008284)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|postsynaptic density assembly (GO:0097107)|prepulse inhibition (GO:0060134)|presynaptic membrane assembly (GO:0097105)|prostate gland growth (GO:0060736)|protein dephosphorylation (GO:0006470)|protein kinase B signaling (GO:0043491)|protein stabilization (GO:0050821)|regulation of B cell apoptotic process (GO:0002902)|regulation of cellular component size (GO:0032535)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of neuron projection development (GO:0010975)|regulation of protein stability (GO:0031647)|response to arsenic-containing substance (GO:0046685)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse maturation (GO:0060074)|T cell receptor signaling pathway (GO:0050852)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|myelin sheath adaxonal region (GO:0035749)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)	anaphase-promoting complex binding (GO:0010997)|enzyme binding (GO:0019899)|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity (GO:0051717)|lipid binding (GO:0008289)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity (GO:0051800)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.0?(37)|p.?(5)|p.R55fs*1(5)|p.Y27fs*1(2)|p.K147fs*5(1)|p.A148E(1)|p.F56fs*2(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		TTTTTAAAGGCACAAGAGGCCC	0.381		31	"D, Mis, N, F, S"		"glioma,  prostate, endometrial"	"harmartoma, glioma,  prostate, endometrial"			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																												ENST00000371953.3		31	yes	Rec	yes	"Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"	10	10q23.3	5728	"D, Mis, N, F, S"	phosphatase and tensin homolog gene			"L, E, M, O"		"harmartoma, glioma,  prostate, endometrial"	"glioma,  prostate, endometrial"		52	Whole gene deletion(37)|Deletion - Frameshift(9)|Unknown(5)|Substitution - Missense(1)	p.0?(37)|p.?(5)|p.R55fs*1(5)|p.Y27fs*1(2)|p.K147fs*5(1)|p.A148E(1)|p.F56fs*2(1)	prostate(16)|central_nervous_system(11)|skin(6)|lung(5)|haematopoietic_and_lymphoid_tissue(4)|breast(3)|ovary(3)|thyroid(1)|soft_tissue(1)|endometrium(1)|urinary_tract(1)	NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771						c.(442-444)gcafs		phosphatase and tensin homolog																																				SO:0001589	frameshift_variant	5728	Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	Familial Cancer Database	Incl.: Encephalocraniocutaneous Lipomatosis, ECCL, Proteus-like s.;incl.: Juvenile Polyposis of the Stomach;HMPS1, Colorectal Adenoma Carcinoma syndrome, CRAC, CRAC1;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;subset of PTEN-Hamartoma Tumor Syndrome; incl.: Ruvalcaba-Myhre-Smith s.	activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr10:89692959_89692960insA	U92436	CCDS31238.1	10q23	2014-09-17	2008-07-31		ENSG00000171862	ENSG00000171862		"Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"	9588	protein-coding gene	gene with protein product	"mutated in multiple advanced cancers 1"	601728		BZS, MHAM		9090379	Standard	NM_000314		Approved	MMAC1, TEP1, PTEN1	uc001kfb.3	P60484	OTTHUMG00000018688	ENST00000371953.3:c.444dupA	10.37:g.89692960_89692960dupA	ENSP00000361021:p.Gln149fs	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)					p.A148fs	NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)	5	1800_1801	+		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	148			Phosphatase tensin-type.		B2R904|F2YHV0|O00633|O02679|Q6ICT7	Frame_Shift_Ins	INS	ENST00000371953.3	37	c.443_444insA	CCDS31238.1																																																																																				0.381	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1	NM_000314		40	24						40	24	---	---	---	---	A	89692960	-	A	89692959	7	5	312	1	0	1	1	0	0	0	0	0	12738	710	25	0	461	0	PTEN	10	89692959	Frame_Shift_Ins	INS	-	TCGA-KK-A6E1-01A-11D-A30X-08	37096916	89692959	45841788	21	16042											
CELA1	1990	broad.mit.edu	37	chr12	51737623	51737623	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	taccgggaacctccagaccgGtactggagggaaatctagat	12	7	12	10	2	1	2	0	0	1	2	2	5	2	5	4	4	3	1	4	4	5	3			TCGA-KK-A6E1-01A-11D-A30X-08	TCGA-KK-A6E1-11A-21D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13b7e087-b8c9-4aca-82d5-bad335e8c8ac	94ff6d8f-9403-4266-a6a8-0c264a0116fd	g.chr12:51737623G>A	ENST00000293636.1	-	3	154	c.114C>T	c.(112-114)taC>taT	p.Y38Y		NM_001971.5	NP_001962.3	Q9UNI1	CELA1_HUMAN	chymotrypsin-like elastase family, member 1	38	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				exocrine pancreas development (GO:0031017)|inflammatory response (GO:0006954)|multicellular organism growth (GO:0035264)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|pancreas morphogenesis (GO:0061113)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic development (GO:0009791)|regulation of cell differentiation (GO:0045595)|regulation of cell proliferation (GO:0042127)|Wnt signaling pathway (GO:0016055)	extracellular region (GO:0005576)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(3)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1)|stomach(1)	15						CTCCAGACCGGTACTGGAGGG	0.502																																						ENST00000293636.1																			0				NS(1)|breast(3)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1)|stomach(1)	15						c.(112-114)taC>taT		chymotrypsin-like elastase family, member 1							42	36	38					12																	51737623		2203	4300	6503	SO:0001819	synonymous_variant	1990				proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity	g.chr12:51737623G>A		CCDS8812.1	12q13	2012-10-02	2009-05-05	2009-05-05	ENSG00000139610	ENSG00000139610			3308	protein-coding gene	gene with protein product		130120	"elastase 1, pancreatic"	ELA1			Standard	NM_001971		Approved		uc001ryi.1	Q9UNI1	OTTHUMG00000167523	ENST00000293636.1:c.114C>T	12.37:g.51737623G>A							p.Y38Y	NM_001971.5	NP_001962.3	Q9UNI1	CELA1_HUMAN			3	154	-			38			Peptidase S1.		Q5MLF0|Q6DJT0|Q6ISM6	Silent	SNP	ENST00000293636.1	37	c.114C>T	CCDS8812.1																																																																																				0.502	CELA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394901.1	NM_001971		4	8	0	0	0	1	0	4	8					A	51737623	G	A	51737623	2	1	312	1	0	0	0	0	0	0	0	1	3210	1256	44	3		3	CELA1	12	51737623	Silent	SNP	G	TCGA-KK-A6E1-01A-11D-A30X-08		51737623	82114272	22	16043											
POLR3B	55703	broad.mit.edu	37	chr12	106820973	106820973	+	Splice_Site	DEL	A	A	-																															atacctttttttttttttttAgcttttatctcttctttttg																										TCGA-KK-A6E1-01A-11D-A30X-08	TCGA-KK-A6E1-11A-21D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13b7e087-b8c9-4aca-82d5-bad335e8c8ac	94ff6d8f-9403-4266-a6a8-0c264a0116fd	g.chr12:106820973delA	ENST00000228347.4	+	13	1323		c.e13-1		POLR3B_ENST00000539066.1_Splice_Site|POLR3B_ENST00000549195.1_Splice_Site	NM_018082.5	NP_060552.4	Q9NW08	RPC2_HUMAN	polymerase (RNA) III (DNA directed) polypeptide B						defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|positive regulation of innate immune response (GO:0045089)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of type I interferon production (GO:0032481)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase III promoter (GO:0006383)	cytosol (GO:0005829)|DNA-directed RNA polymerase III complex (GO:0005666)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|metal ion binding (GO:0046872)|ribonucleoside binding (GO:0032549)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(22)|ovary(1)|prostate(3)|skin(3)|urinary_tract(2)	57						TTTTTTTTTTAGCTTTTATCT	0.269																																						ENST00000228347.4																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(22)|ovary(1)|prostate(3)|skin(3)|urinary_tract(2)	57						c.e13-1		polymerase (RNA) III (DNA directed) polypeptide B							9	10	9					12																	106820973		2166	4272	6438	SO:0001630	splice_region_variant	55703				innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|ribonucleoside binding	g.chr12:106820973delA	AY092084	CCDS9105.1, CCDS53824.1	12q23.3	2014-08-12			ENSG00000013503	ENSG00000013503		"RNA polymerase subunits"	30348	protein-coding gene	gene with protein product		614366				12391170	Standard	NM_018082		Approved	RPC2, FLJ10388	uc001tlp.3	Q9NW08	OTTHUMG00000170077	ENST00000228347.4:c.1102-1A>-	12.37:g.106820973delA						POLR3B_ENST00000539066.1_Splice_Site|POLR3B_ENST00000549195.1_Splice_Site		NM_018082.5	NP_060552.4	Q9NW08	RPC2_HUMAN			13	1323	+								A8K6H0|B3KV73|F5H1E6|Q9NW59	Splice_Site	DEL	ENST00000228347.4	37		CCDS9105.1																																																																																				0.269	POLR3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407166.1	NM_018082	Intron	2	4						2	4	---	---	---	---	-	106820973	A	-	106820973	8	5	312	1	0	1	0	1	0	0	1	0	12229	434	15	0	1150	0	POLR3B	12	106820973	Splice_Site	DEL	A	TCGA-KK-A6E1-01A-11D-A30X-08	55083350	106820973	27030922	23	16044											
HTR2A	3356	broad.mit.edu	37	chr13	47409098	47409099	+	Frame_Shift_Ins	INS	-	-	T																															tggcatcttgctttgaattcINStttttttgtcccatttgaag																										TCGA-KK-A6E1-01A-11D-A30X-08	TCGA-KK-A6E1-11A-21D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13b7e087-b8c9-4aca-82d5-bad335e8c8ac	94ff6d8f-9403-4266-a6a8-0c264a0116fd	g.chr13:47409098_47409099insT	ENST00000378688.4	-	3	1420_1421	c.1289_1290insA	c.(1288-1290)aagfs	p.K430fs	HTR2A_ENST00000543956.1_Frame_Shift_Ins_p.K346fs|HTR2A_ENST00000542664.1_Frame_Shift_Ins_p.K430fs			P28223	5HT2A_HUMAN	5-hydroxytryptamine (serotonin) receptor 2A, G protein-coupled	430					activation of phospholipase C activity (GO:0007202)|aging (GO:0007568)|artery smooth muscle contraction (GO:0014824)|behavioral response to cocaine (GO:0048148)|cell death (GO:0008219)|cellular calcium ion homeostasis (GO:0006874)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|memory (GO:0007613)|negative regulation of potassium ion transport (GO:0043267)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phospholipase C-activating serotonin receptor signaling pathway (GO:0007208)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of glycolytic process (GO:0045821)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol biosynthetic process (GO:0010513)|positive regulation of vasoconstriction (GO:0045907)|protein localization to cytoskeleton (GO:0044380)|regulation of behavior (GO:0050795)|regulation of dopamine secretion (GO:0014059)|regulation of hormone secretion (GO:0046883)|release of sequestered calcium ion into cytosol (GO:0051209)|response to drug (GO:0042493)|serotonin receptor signaling pathway (GO:0007210)|sleep (GO:0030431)|synaptic transmission (GO:0007268)|temperature homeostasis (GO:0001659)|urinary bladder smooth muscle contraction (GO:0014832)	cell body fiber (GO:0070852)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding (GO:0071886)|drug binding (GO:0008144)|serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|liver(1)|lung(10)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36		all_lung(13;7.2e-10)|Lung NSC(96;3.77e-07)|Breast(56;2.06e-05)|Prostate(109;0.00116)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)|Myeloproliferative disorder(33;0.0333)		GBM - Glioblastoma multiforme(144;4.67e-05)|COAD - Colon adenocarcinoma(199;0.224)	Acepromazine(DB01614)|Amisulpride(DB06288)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinitapride(DB08810)|Cisapride(DB00604)|Clomipramine(DB01242)|Clozapine(DB00363)|Cyclobenzaprine(DB00924)|Cyproheptadine(DB00434)|Desipramine(DB01151)|Donepezil(DB00843)|Doxepin(DB01142)|Epinastine(DB00751)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Flupentixol(DB00875)|Fluspirilene(DB04842)|Haloperidol(DB00502)|Iloperidone(DB04946)|Imipramine(DB00458)|Ketamine(DB01221)|Lisuride(DB00589)|Loxapine(DB00408)|Lurasidone(DB08815)|Maprotiline(DB00934)|Mesoridazine(DB00933)|Methotrimeprazine(DB01403)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Molindone(DB01618)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Paliperidone(DB01267)|Paroxetine(DB00715)|Pergolide(DB01186)|Pipotiazine(DB01621)|Pramipexole(DB00413)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Remoxipride(DB00409)|Risperidone(DB00734)|Ropinirole(DB00268)|Sertindole(DB06144)|Thioproperazine(DB01622)|Thioridazine(DB00679)|Thiothixene(DB01623)|Trazodone(DB00656)|Trimipramine(DB00726)|Yohimbine(DB01392)|Ziprasidone(DB00246)	GCTTTGAATTCTTTTTTTGTCC	0.401																																						ENST00000378688.4																			0				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|liver(1)|lung(10)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						c.(1288-1290)aaafs		5-hydroxytryptamine (serotonin) receptor 2A, G protein-coupled	Aripiprazole(DB01238)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cisapride(DB00604)|Clomipramine(DB01242)|Clozapine(DB00363)|Cyclobenzaprine(DB00924)|Cyproheptadine(DB00434)|Dihydroergotamine(DB00320)|Donepezil(DB00843)|Epinastine(DB00751)|Ergotamine(DB00696)|Fluvoxamine(DB00176)|Mesoridazine(DB00933)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Nefazodone(DB01149)|Olanzapine(DB00334)|Paliperidone(DB01267)|Paroxetine(DB00715)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Sertindole(DB06144)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Tranylcypromine(DB00752)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246)																																			SO:0001589	frameshift_variant	3356				ERK1 and ERK2 cascade|phosphatidylinositol 3-kinase cascade|phosphatidylinositol biosynthetic process|release of sequestered calcium ion into cytosol|response to drug|synaptic transmission	integral to plasma membrane	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding|drug binding|phosphatidylinositol phospholipase C activity|serotonin binding|serotonin receptor activity	g.chr13:47409098_47409099insT	X57830	CCDS9405.1, CCDS53867.1	13q14-q21	2012-08-08	2012-02-03		ENSG00000102468	ENSG00000102468		"5-HT (serotonin) receptors", "GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"	5293	protein-coding gene	gene with protein product		182135	"5-hydroxytryptamine (serotonin) receptor 2A"	HTR2		8035173	Standard	NM_000621		Approved	5-HT2A	uc010acr.4	P28223	OTTHUMG00000016881	ENST00000378688.4:c.1290dupA	13.37:g.47409105_47409105dupT	ENSP00000367959:p.Lys430fs					HTR2A_ENST00000542664.1_Frame_Shift_Ins_p.K430fs|HTR2A_ENST00000543956.1_Frame_Shift_Ins_p.K346fs	p.K430fs			P28223	5HT2A_HUMAN		GBM - Glioblastoma multiforme(144;4.67e-05)|COAD - Colon adenocarcinoma(199;0.224)	3	1420_1421	-		all_lung(13;7.2e-10)|Lung NSC(96;3.77e-07)|Breast(56;2.06e-05)|Prostate(109;0.00116)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)|Myeloproliferative disorder(33;0.0333)	430					B2RAC5|B4DZ79|F5GWE8|Q5T8C0	Frame_Shift_Ins	INS	ENST00000378688.4	37	c.1289_1290insA	CCDS9405.1																																																																																				0.401	HTR2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044835.3	NM_000621		45	43						45	43	---	---	---	---	T	47409099	-	T	47409098	7	5	312	1	0	1	1	0	0	0	0	0	7441	912	32	0	129	0	HTR2A	13	47409098	Frame_Shift_Ins	INS	-	TCGA-KK-A6E1-01A-11D-A30X-08		47409098	67760780	24	16045											
CCDC70	83446	broad.mit.edu	37	chr13	52439722	52439722	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggacttcagggaagagatgTggactttccgaggcaagatc	12	8	14	7	1	1	2	1	0	0	2	3	7	2	5	1	4	0	1	1	4	2	2			TCGA-KK-A6E1-01A-11D-A30X-08	TCGA-KK-A6E1-11A-21D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13b7e087-b8c9-4aca-82d5-bad335e8c8ac	94ff6d8f-9403-4266-a6a8-0c264a0116fd	g.chr13:52439722T>C	ENST00000242819.4	+	2	504	c.208T>C	c.(208-210)Tgg>Cgg	p.W70R		NM_031290.2	NP_112580.2	Q6NSX1	CCD70_HUMAN	coiled-coil domain containing 70	70						extracellular region (GO:0005576)|plasma membrane (GO:0005886)				breast(1)|large_intestine(4)|lung(7)|skin(2)|urinary_tract(1)	15		Breast(56;0.000207)|Lung NSC(96;0.00145)|Prostate(109;0.0107)|Hepatocellular(98;0.065)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;2.4e-08)		GGAAGAGATGTGGACTTTCCG	0.468																																						ENST00000242819.4																			0				breast(1)|large_intestine(4)|lung(7)|skin(2)|urinary_tract(1)	15						c.(208-210)Tgg>Cgg		coiled-coil domain containing 70							62	68	66					13																	52439722		2203	4300	6503	SO:0001583	missense	83446					extracellular region|plasma membrane		g.chr13:52439722T>C		CCDS9431.1	13q14.3	2006-02-07			ENSG00000123171	ENSG00000123171			25303	protein-coding gene	gene with protein product						11230166	Standard	NM_031290		Approved	DKFZP434K1172, FLJ25853	uc001vfu.4	Q6NSX1	OTTHUMG00000016950	ENST00000242819.4:c.208T>C	13.37:g.52439722T>C	ENSP00000242819:p.Trp70Arg						p.W70R	NM_031290.2	NP_112580.2	Q6NSX1	CCD70_HUMAN		GBM - Glioblastoma multiforme(99;2.4e-08)	2	504	+		Breast(56;0.000207)|Lung NSC(96;0.00145)|Prostate(109;0.0107)|Hepatocellular(98;0.065)|all_neural(104;0.19)	70					Q8N7A8|Q9H097	Missense_Mutation	SNP	ENST00000242819.4	37	c.208T>C	CCDS9431.1	.	.	.	.	.	.	.	.	.	.	T	0.009	-1.802895	0.00611	.	.	ENSG00000123171	ENST00000242819	T	0.27104	1.69	5.34	-0.341	0.12639	.	0.338064	0.26096	N	0.026376	T	0.20170	0.0485	M	0.70595	2.14	0.09310	N	1	P	0.39782	0.688	B	0.40534	0.332	T	0.18777	-1.0326	10	0.09843	T	0.71	-24.8187	3.1732	0.06560	0.2938:0.1694:0.0:0.5368	.	70	Q6NSX1	CCD70_HUMAN	R	70	ENSP00000242819:W70R	ENSP00000242819:W70R	W	+	1	0	CCDC70	51337723	0.007000	0.16637	0.002000	0.10522	0.002000	0.02628	0.301000	0.19174	0.031000	0.15407	-0.490000	0.04691	TGG		0.468	CCDC70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045033.2	NM_031290		32	52	0	0	0	1	0	32	52					C	52439722	T	C	52439722	3	2	312	1	0	0	0	0	1	0	0	0	2843	1696	59	4	210	4	CCDC70	13	52439722	Missense_Mutation	SNP	T	TCGA-KK-A6E1-01A-11D-A30X-08	5030624	52439722	62730156	25	16046											
STK24	8428	broad.mit.edu	37	chr13	99127163	99127163	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccttttgatctgggtgtctGtcagctggccagccacgcca	5	12	11	13	1	3	1	1	1	2	0	4	1	4	1	4	2	2	1	4	2	0	2			TCGA-KK-A6E1-01A-11D-A30X-08	TCGA-KK-A6E1-11A-21D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13b7e087-b8c9-4aca-82d5-bad335e8c8ac	94ff6d8f-9403-4266-a6a8-0c264a0116fd	g.chr13:99127163G>T	ENST00000376547.3	-	5	690	c.545C>A	c.(544-546)aCa>aAa	p.T182K	STK24_ENST00000397517.2_Missense_Mutation_p.T170K|STK24_ENST00000539966.1_Missense_Mutation_p.T151K	NM_003576.3	NP_003567.2	Q9Y6E0	STK24_HUMAN	serine/threonine kinase 24	182	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|execution phase of apoptosis (GO:0097194)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|negative regulation of cell migration (GO:0030336)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of axon regeneration (GO:0048679)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|skin(1)	17	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.233)			CTGGGTGTCTGTCAGCTGGCC	0.612																																						ENST00000397517.2																			0				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|skin(1)	17						c.(508-510)aCa>aAa		serine/threonine kinase 24							65	67	66					13																	99127163		2203	4300	6503	SO:0001583	missense	8428				cellular component disassembly involved in apoptosis|signal transduction	cytosol|nucleoplasm	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr13:99127163G>T	AF024636	CCDS9488.1, CCDS32001.1, CCDS66573.1	13q31.2-q32.3	2010-06-25	2010-06-25		ENSG00000102572	ENSG00000102572			11403	protein-coding gene	gene with protein product	"STE20-like kinase 3", "sterile 20-like kinase 3"	604984	"serine/threonine kinase 24 (Ste20, yeast homolog)"			9353338, 10644707	Standard	NM_003576		Approved	MST-3, MST3, MST3B, STK3, STE20	uc001vnn.1	Q9Y6E0	OTTHUMG00000017250	ENST00000376547.3:c.545C>A	13.37:g.99127163G>T	ENSP00000365730:p.Thr182Lys					STK24_ENST00000539966.1_Missense_Mutation_p.T151K|STK24_ENST00000376547.3_Missense_Mutation_p.T182K	p.T170K	NM_001032296.2	NP_001027467.2	Q9Y6E0	STK24_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.233)		5	585	-	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		182			Protein kinase.		O14840|Q5JV92	Missense_Mutation	SNP	ENST00000376547.3	37	c.509C>A	CCDS9488.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.73|19.73	3.881107|3.881107	0.72294|0.72294	.|.	.|.	ENSG00000102572|ENSG00000102572	ENST00000444574|ENST00000397517;ENST00000376547;ENST00000539966;ENST00000376533;ENST00000543110	.|T;T;T	.|0.65178	.|-0.14;-0.14;-0.14	5.24|5.24	4.38|4.38	0.52667|0.52667	.|Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	.|0.109437	.|0.39210	.|U	.|0.001425	T|T	0.56140|0.56140	0.1965|0.1965	N|N	0.02192|0.02192	-0.645|-0.645	0.80722|0.80722	D|D	1|1	.|P;D;D	.|0.71674	.|0.789;0.994;0.998	.|B;P;D	.|0.65987	.|0.161;0.811;0.94	T|T	0.71361|0.71361	-0.4616|-0.4616	5|10	.|0.87932	.|D	.|0	.|.	15.3486|15.3486	0.74363|0.74363	0.0:0.0:0.8591:0.1409|0.0:0.0:0.8591:0.1409	.|.	.|151;170;182	.|B4DR80;Q5U0E6;Q9Y6E0	.|.;.;STK24_HUMAN	E|K	87|170;182;151;158;170	.|ENSP00000380651:T170K;ENSP00000365730:T182K;ENSP00000442539:T151K	.|ENSP00000365716:T158K	D|T	-|-	3|2	2|0	STK24|STK24	97925164|97925164	1.000000|1.000000	0.71417|0.71417	0.863000|0.863000	0.33907|0.33907	0.844000|0.844000	0.47949|0.47949	9.480000|9.480000	0.97931|0.97931	1.304000|1.304000	0.44892|0.44892	0.655000|0.655000	0.94253|0.94253	GAC|ACA		0.612	STK24-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045549.2	NM_003576		13	33	1	0	1.49906e-05	1	1.58991e-05	13	33					T	99127163	G	T	99127163	3	4	312	1	0	0	0	0	1	0	0	0	15292	1377	48	5	814	5	STK24	13	99127163	Missense_Mutation	SNP	G	TCGA-KK-A6E1-01A-11D-A30X-08	46687441	99127163	16042715	26	16047											
CTSG	1511	broad.mit.edu	37	chr14	25043658	25043658	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtccctcctgggctctaggCagagccactgggttcacgtt	6	10	12	13	1	2	1	1	0	1	1	4	1	4	1	3	3	1	4	3	3	1	3			TCGA-KK-A6E1-01A-11D-A30X-08	TCGA-KK-A6E1-11A-21D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13b7e087-b8c9-4aca-82d5-bad335e8c8ac	94ff6d8f-9403-4266-a6a8-0c264a0116fd	g.chr14:25043658C>A	ENST00000216336.2	-	4	423	c.387G>T	c.(385-387)ctG>ctT	p.L129L		NM_001911.2	NP_001902.1	P08311	CATG_HUMAN	cathepsin G	129	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				angiotensin maturation (GO:0002003)|cellular protein metabolic process (GO:0044267)|defense response to fungus (GO:0050832)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|immune response (GO:0006955)|negative regulation of growth of symbiont in host (GO:0044130)|neutrophil mediated killing of gram-positive bacterium (GO:0070946)|positive regulation of immune response (GO:0050778)|proteolysis (GO:0006508)|response to lipopolysaccharide (GO:0032496)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)	heparin binding (GO:0008201)|peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)			autonomic_ganglia(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(1)|urinary_tract(1)	25				GBM - Glioblastoma multiforme(265;0.0269)		GGGCTCTAGGCAGAGCCACTG	0.627																																						ENST00000216336.2																			0				autonomic_ganglia(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(1)|urinary_tract(1)	25						c.(385-387)ctG>ctT		cathepsin G							112	111	111					14																	25043658		2203	4300	6503	SO:0001819	synonymous_variant	1511				immune response|proteolysis	cell surface|extracellular space|plasma membrane|stored secretory granule	heparin binding|serine-type endopeptidase activity	g.chr14:25043658C>A	M16117	CCDS9631.1	14q12	2013-02-25			ENSG00000100448	ENSG00000100448		"Cathepsins", "Endogenous ligands"	2532	protein-coding gene	gene with protein product		116830				2569462	Standard	NM_001911		Approved	CG	uc001wpq.3	P08311	OTTHUMG00000140182	ENST00000216336.2:c.387G>T	14.37:g.25043658C>A							p.L129L	NM_001911.2	NP_001902.1	P08311	CATG_HUMAN		GBM - Glioblastoma multiforme(265;0.0269)	4	423	-			129			Peptidase S1.		Q6IBJ6|Q9UCA5|Q9UCU6	Silent	SNP	ENST00000216336.2	37	c.387G>T	CCDS9631.1																																																																																				0.627	CTSG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276536.2	NM_001911		21	107	1	0	1.50039e-11	1	1.69399e-11	21	107					A	25043658	C	A	25043658	2	1	312	1	0	0	0	0	0	0	0	1	4035	697	25	5		5	CTSG	14	25043658	Silent	SNP	C	TCGA-KK-A6E1-01A-11D-A30X-08		25043658	82305882	27	16048											
VSX2	338917	broad.mit.edu	37	chr14	74726471	74726471	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tggcatcatggactcctgtgCcccgtggctactgggtaaga	7	10	13	11	1	1	1	1	0	0	1	2	2	2	2	3	4	2	3	3	4	2	2			TCGA-KK-A6E1-01A-11D-A30X-08	TCGA-KK-A6E1-11A-21D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13b7e087-b8c9-4aca-82d5-bad335e8c8ac	94ff6d8f-9403-4266-a6a8-0c264a0116fd	g.chr14:74726471C>T	ENST00000261980.2	+	4	836	c.746C>T	c.(745-747)gCc>gTc	p.A249V		NM_182894.2	NP_878314.1	P58304	VSX2_HUMAN	visual system homeobox 2	249	CVC. {ECO:0000255|PROSITE- ProRule:PRU00829}.				cell fate commitment (GO:0045165)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to stimulus (GO:0050896)|retinal bipolar neuron differentiation (GO:0060040)|transcription, DNA-templated (GO:0006351)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			endometrium(1)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	7				BRCA - Breast invasive adenocarcinoma(234;0.00154)		GACTCCTGTGCCCCGTGGCTA	0.657																																						ENST00000261980.2																			0				endometrium(1)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	7						c.(745-747)gCc>gTc		visual system homeobox 2							73	61	65					14																	74726471		2203	4300	6503	SO:0001583	missense	338917				multicellular organismal development|response to stimulus|visual perception	nucleolus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr14:74726471C>T	AC005519	CCDS9827.1	14q24.3	2011-06-20	2007-08-21	2007-08-21		ENSG00000119614		"Homeoboxes / PRD class"	1975	protein-coding gene	gene with protein product		142993	"C elegans ceh-10 homeo domain-containing homolog", "ceh-10 homeo domain containing homolog (C. elegans)", "ceh-10 homeodomain containing homolog (C. elegans)"	HOX10, CHX10		1973146	Standard	NM_182894		Approved	RET1	uc001xpq.3	P58304		ENST00000261980.2:c.746C>T	14.37:g.74726471C>T	ENSP00000261980:p.Ala249Val						p.A249V	NM_182894.2	NP_878314.1	P58304	VSX2_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00154)	4	836	+			249			CVC.		A1A4X6	Missense_Mutation	SNP	ENST00000261980.2	37	c.746C>T	CCDS9827.1	.	.	.	.	.	.	.	.	.	.	C	34	5.359715	0.95854	.	.	ENSG00000119614	ENST00000261980	D	0.92199	-2.99	5.13	5.13	0.70059	CVC domain (1);	0.047909	0.85682	D	0.000000	D	0.94056	0.8095	M	0.68317	2.08	0.80722	D	1	P	0.41710	0.76	P	0.51355	0.667	D	0.92951	0.6380	10	0.37606	T	0.19	.	18.7787	0.91922	0.0:1.0:0.0:0.0	.	249	P58304	VSX2_HUMAN	V	249	ENSP00000261980:A249V	ENSP00000261980:A249V	A	+	2	0	VSX2	73796224	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.590000	0.82653	2.669000	0.90835	0.655000	0.94253	GCC		0.657	VSX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412323.1	NM_182894		3	19	0	0	0	1	0	3	19					T	74726471	C	T	74726471	3	4	312	1	0	0	0	0	1	0	0	0	17229	739	26	3	760	3	VSX2	14	74726471	Missense_Mutation	SNP	C	TCGA-KK-A6E1-01A-11D-A30X-08	49682813	74726471	32623069	28	16049											
SCG3	29106	broad.mit.edu	37	chr15	51975311	51975311	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagacaagattaaaaaaacAtatcctccaggtaaaaagaa	23	6	6	6	0	0	3	0	0	0	3	2	4	2	3	2	1	1	1	2	1	11	3			TCGA-KK-A6E1-01A-11D-A30X-08	TCGA-KK-A6E1-11A-21D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13b7e087-b8c9-4aca-82d5-bad335e8c8ac	94ff6d8f-9403-4266-a6a8-0c264a0116fd	g.chr15:51975311A>G	ENST00000220478.3	+	3	574	c.171A>G	c.(169-171)acA>acG	p.T57T	SCG3_ENST00000542355.2_5'UTR	NM_013243.3	NP_037375.2	Q8WXD2	SCG3_HUMAN	secretogranin III	57					blood coagulation (GO:0007596)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|membrane (GO:0016020)|secretory granule lumen (GO:0034774)	poly(A) RNA binding (GO:0044822)			breast(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21				all cancers(107;0.00488)		TTAAAAAAACATATCCTCCAG	0.343																																						ENST00000220478.3																			0				breast(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(169-171)acA>acG		secretogranin III							91	100	97					15																	51975311		2195	4293	6488	SO:0001819	synonymous_variant	29106				platelet activation|platelet degranulation	extracellular region|stored secretory granule		g.chr15:51975311A>G	AF078851	CCDS10142.1, CCDS53947.1	15q21.2	2013-09-23			ENSG00000104112	ENSG00000104112			13707	protein-coding gene	gene with protein product		611796				2053134, 8825061	Standard	NM_013243		Approved	SGIII, FLJ90833	uc002abh.3	Q8WXD2	OTTHUMG00000131748	ENST00000220478.3:c.171A>G	15.37:g.51975311A>G						SCG3_ENST00000542355.2_5'UTR	p.T57T	NM_013243.3	NP_037375.2	Q8WXD2	SCG3_HUMAN		all cancers(107;0.00488)	3	574	+			57					A8K2B0|B3KQP6|B4DK99|F5H3R8|Q96C83|Q96GE8|Q9Y6G7	Silent	SNP	ENST00000220478.3	37	c.171A>G	CCDS10142.1																																																																																				0.343	SCG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254670.2	NM_013243		39	42	0	0	0	1	0	39	42					G	51975311	A	G	51975311	2	3	312	1	0	0	0	0	0	0	0	1	13892	204	8	4		4	SCG3	15	51975311	Silent	SNP	A	TCGA-KK-A6E1-01A-11D-A30X-08		51975311	50556081	29	16050											
CACNA1G	8913	broad.mit.edu	37	chr17	48678110	48678110	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaggggaacgggtccgcgcGtggatccgagcccgactccc	8	4	15	14	6	0	0	0	0	0	0	3	4	3	2	4	4	2	0	4	4	2	0			TCGA-KK-A6E1-01A-11D-A30X-08	TCGA-KK-A6E1-11A-21D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13b7e087-b8c9-4aca-82d5-bad335e8c8ac	94ff6d8f-9403-4266-a6a8-0c264a0116fd	g.chr17:48678110G>A	ENST00000359106.5	+	18	3714	c.3714G>A	c.(3712-3714)gcG>gcA	p.A1238A	CACNA1G_ENST00000515765.1_Silent_p.A1238A|CACNA1G_ENST00000360761.4_Silent_p.A1215A|CACNA1G_ENST00000515165.1_Silent_p.A1238A|CACNA1G_ENST00000503485.1_Silent_p.A1238A|CACNA1G_ENST00000352832.5_Silent_p.A1215A|CACNA1G_ENST00000358244.5_Silent_p.A1215A|CACNA1G_ENST00000510366.1_Silent_p.A1238A|CACNA1G_ENST00000429973.2_Silent_p.A1238A|CACNA1G_ENST00000514181.1_Silent_p.A1238A|CACNA1G_ENST00000514079.1_Silent_p.A1238A|CACNA1G_ENST00000512389.1_Silent_p.A1238A|CACNA1G_ENST00000507609.1_Silent_p.A1238A|CACNA1G_ENST00000505165.1_Silent_p.A1238A|CACNA1G_ENST00000513689.2_Silent_p.A1238A|CACNA1G_ENST00000442258.2_Silent_p.A1215A|CACNA1G_ENST00000507336.1_Silent_p.A1238A|CACNA1G_ENST00000507510.2_Silent_p.A1238A|CACNA1G_ENST00000502264.1_Silent_p.A1215A|CACNA1G_ENST00000510115.1_Silent_p.A1215A|CACNA1G_ENST00000507896.1_Silent_p.A1238A|CACNA1G_ENST00000354983.4_Silent_p.A1215A|CACNA1G_ENST00000513964.1_Silent_p.A1238A|CACNA1G_ENST00000416767.4_Silent_p.A1238A|CACNA1G_ENST00000515411.1_Silent_p.A1238A|CACNA1G_ENST00000514717.1_Silent_p.A1215A	NM_018896.4	NP_061496.2	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit	1238					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|membrane depolarization during action potential (GO:0086010)|positive regulation of calcium ion-dependent exocytosis (GO:0045956)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of heart rate (GO:0002027)|regulation of membrane potential (GO:0042391)|response to nickel cation (GO:0010045)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	low voltage-gated calcium channel activity (GO:0008332)|scaffold protein binding (GO:0097110)			breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Cinnarizine(DB00568)|Ethosuximide(DB00593)|Flunarizine(DB04841)|Methsuximide(DB05246)|Spironolactone(DB00421)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	GGGTCCGCGCGTGGATCCGAG	0.632																																						ENST00000352832.5																			0				breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47						c.(3643-3645)gcG>gcA		calcium channel, voltage-dependent, T type, alpha 1G subunit	Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)						54	66	62					17																	48678110		2082	4216	6298	SO:0001819	synonymous_variant	8913				axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity	g.chr17:48678110G>A	AC004590	CCDS45730.1, CCDS45731.1, CCDS45732.1, CCDS45733.1, CCDS45734.1, CCDS45735.1, CCDS45736.1, CCDS45737.1, CCDS54142.1, CCDS54143.1, CCDS54144.1, CCDS54145.1, CCDS54146.1, CCDS58565.1, CCDS58566.1, CCDS58567.1, CCDS58568.1, CCDS58569.1, CCDS58570.1, CCDS58571.1, CCDS58572.1, CCDS58573.1, CCDS58574.1, CCDS58575.1, CCDS58576.1	17q22	2012-03-07	2007-02-16		ENSG00000006283	ENSG00000006283		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1394	protein-coding gene	gene with protein product		604065				9495342, 16382099	Standard	NM_001256334		Approved	Cav3.1, NBR13	uc002irk.2	O43497	OTTHUMG00000162180	ENST00000359106.5:c.3714G>A	17.37:g.48678110G>A						CACNA1G_ENST00000513964.1_Silent_p.A1238A|CACNA1G_ENST00000416767.4_Silent_p.A1238A|CACNA1G_ENST00000515765.1_Silent_p.A1238A|CACNA1G_ENST00000507336.1_Silent_p.A1238A|CACNA1G_ENST00000515411.1_Silent_p.A1238A|CACNA1G_ENST00000514717.1_Silent_p.A1215A|CACNA1G_ENST00000505165.1_Silent_p.A1238A|CACNA1G_ENST00000514181.1_Silent_p.A1238A|CACNA1G_ENST00000514079.1_Silent_p.A1238A|CACNA1G_ENST00000510366.1_Silent_p.A1238A|CACNA1G_ENST00000360761.4_Silent_p.A1215A|CACNA1G_ENST00000513689.2_Silent_p.A1238A|CACNA1G_ENST00000515165.1_Silent_p.A1238A|CACNA1G_ENST00000503485.1_Silent_p.A1238A|CACNA1G_ENST00000354983.4_Silent_p.A1215A|CACNA1G_ENST00000510115.1_Silent_p.A1215A|CACNA1G_ENST00000442258.2_Silent_p.A1215A|CACNA1G_ENST00000507896.1_Silent_p.A1238A|CACNA1G_ENST00000512389.1_Silent_p.A1238A|CACNA1G_ENST00000429973.2_Silent_p.A1238A|CACNA1G_ENST00000507510.2_Silent_p.A1238A|CACNA1G_ENST00000507609.1_Silent_p.A1238A|CACNA1G_ENST00000502264.1_Silent_p.A1215A|CACNA1G_ENST00000359106.5_Silent_p.A1238A|CACNA1G_ENST00000358244.5_Silent_p.A1215A	p.A1215A	NM_001256334.1|NM_198376.2|NM_198379.2|NM_198387.2|NM_198388.2	NP_001243263.1|NP_938190.1|NP_938193.1|NP_938201.1|NP_938202.1	O43497	CAC1G_HUMAN	BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		17	4017	+	Breast(11;6.7e-17)		1238					D6RA64|E7EPR0|O43498|O94770|Q19QY8|Q19QY9|Q19QZ0|Q19QZ1|Q19QZ2|Q19QZ3|Q19QZ4|Q19QZ5|Q19QZ6|Q19QZ7|Q19QZ8|Q19QZ9|Q19R00|Q19R01|Q19R02|Q19R03|Q19R04|Q19R05|Q19R06|Q19R07|Q19R08|Q19R09|Q19R10|Q19R11|Q19R12|Q19R13|Q19R15|Q19R16|Q19R17|Q19R18|Q2TAC4|Q9NYU4|Q9NYU5|Q9NYU6|Q9NYU7|Q9NYU8|Q9NYU9|Q9NYV0|Q9NYV1|Q9UHN9|Q9UHP0|Q9ULU6|Q9UNG7|Q9Y5T2|Q9Y5T3	Silent	SNP	ENST00000359106.5	37	c.3645G>A	CCDS45730.1																																																																																				0.632	CACNA1G-013	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000367895.1	NM_018896		30	47	0	0	0	1	0	30	47					A	48678110	G	A	48678110	2	1	312	1	0	0	0	0	0	0	0	1	2544	1132	40	1		1	CACNA1G	17	48678110	Silent	SNP	G	TCGA-KK-A6E1-01A-11D-A30X-08		48678110	32517100	30	16051											
MYH7B	57644	broad.mit.edu	37	chr20	33567504	33567504	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgagctgcagcccatgaaccCgcctcgcttcgacttactgg	7	8	10	16	4	0	1	0	1	0	0	2	3	0	1	3	1	5	3	3	1	2	2	rs375281565		TCGA-KK-A6E1-01A-11D-A30X-08	TCGA-KK-A6E1-11A-21D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13b7e087-b8c9-4aca-82d5-bad335e8c8ac	94ff6d8f-9403-4266-a6a8-0c264a0116fd	g.chr20:33567504C>T	ENST00000262873.7	+	5	457	c.365C>T	c.(364-366)cCg>cTg	p.P122L		NM_020884.3	NP_065935.2	A7E2Y1	MYH7B_HUMAN	myosin, heavy chain 7B, cardiac muscle, beta	80	Myosin motor.					membrane (GO:0016020)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)	p.P122Q(1)		NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	54			BRCA - Breast invasive adenocarcinoma(18;0.00691)			CCCATGAACCCGCCTCGCTTC	0.637																																						ENST00000262873.7																			1	Substitution - Missense(1)	p.P122Q(1)	lung(1)	NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	54						c.(364-366)cCg>cTg		myosin, heavy chain 7B, cardiac muscle, beta		C	LEU/PRO	0,4352		0,0,2176	67	71	70		365	4.3	1	20		70	1,8563		0,1,4281	no	missense	MYH7B	NM_020884.3	98	0,1,6457	TT,TC,CC		0.0117,0.0,0.0077	probably-damaging	122/1984	33567504	1,12915	2176	4282	6458	SO:0001583	missense	57644					membrane|myosin filament	actin binding|ATP binding|motor activity	g.chr20:33567504C>T	AB040945	CCDS42869.1	20q11	2011-09-27	2006-09-29		ENSG00000078814	ENSG00000078814		"Myosins / Myosin superfamily : Class II"	15906	protein-coding gene	gene with protein product		609928	"myosin, heavy polypeptide 7B, cardiac muscle, beta"			11919279, 15014174	Standard	XM_006723839		Approved	KIAA1512, dJ756N5.1, MYH14, MHC14	uc002xbi.2	A7E2Y1	OTTHUMG00000032320	ENST00000262873.7:c.365C>T	20.37:g.33567504C>T	ENSP00000262873:p.Pro122Leu						p.P122L	NM_020884.3	NP_065935.2	A7E2Y1	MYH7B_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.00691)		5	457	+			80			Myosin head-like.		Q5JVW7|Q6NT44|Q6NT57|Q6WG75|Q96I57|Q9NWE2|Q9P216	Missense_Mutation	SNP	ENST00000262873.7	37	c.365C>T	CCDS42869.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.184921	0.78677	0.0	1.17E-4	ENSG00000078814	ENST00000262873	T	0.73152	-0.72	4.31	4.31	0.51392	Myosin head, motor domain (1);	0.000000	0.37483	N	0.002063	D	0.88897	0.6562	H	0.97659	4.05	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.91996	0.5607	10	0.87932	D	0	.	12.8852	0.58040	0.0:0.9175:0.0:0.0825	.	80	A7E2Y1	MYH7B_HUMAN	L	122	ENSP00000262873:P122L	ENSP00000262873:P122L	P	+	2	0	MYH7B	33031165	1.000000	0.71417	0.971000	0.41717	0.444000	0.32077	7.609000	0.82925	2.383000	0.81215	0.561000	0.74099	CCG		0.637	MYH7B-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000078833.2	NM_020884		30	47	0	0	0	1	0	30	47					T	33567504	C	T	33567504	3	4	312	1	0	0	0	0	1	0	0	0	10040	652	23	2	383	2	MYH7B	20	33567504	Missense_Mutation	SNP	C	TCGA-KK-A6E1-01A-11D-A30X-08		33567504	29458016	31	16052											
MYH9	4627	broad.mit.edu	37	chr22	36680210	36680210	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcagtggcgtcctccagctcGcgctgcagtttccggcggga	4	9	14	14	5	1	0	1	0	0	0	5	1	4	1	3	3	2	4	3	3	0	1	rs559732738		TCGA-KK-A6E1-01A-11D-A30X-08	TCGA-KK-A6E1-11A-21D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13b7e087-b8c9-4aca-82d5-bad335e8c8ac	94ff6d8f-9403-4266-a6a8-0c264a0116fd	g.chr22:36680210G>A	ENST00000216181.5	-	40	5924	c.5694C>T	c.(5692-5694)cgC>cgT	p.R1898R	MYH9_ENST00000475726.1_5'UTR	NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle	1898					actin cytoskeleton reorganization (GO:0031532)|actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|angiogenesis (GO:0001525)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood vessel endothelial cell migration (GO:0043534)|cytokinesis (GO:0000910)|establishment of meiotic spindle localization (GO:0051295)|establishment of T cell polarity (GO:0001768)|in utero embryonic development (GO:0001701)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|meiotic spindle organization (GO:0000212)|membrane protein ectodomain proteolysis (GO:0006509)|monocyte differentiation (GO:0030224)|myoblast fusion (GO:0007520)|platelet aggregation (GO:0070527)|platelet formation (GO:0030220)|protein transport (GO:0015031)|regulation of cell shape (GO:0008360)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|uropod organization (GO:0032796)	actin cytoskeleton (GO:0015629)|actomyosin (GO:0042641)|actomyosin contractile ring (GO:0005826)|cell leading edge (GO:0031252)|cell-cell adherens junction (GO:0005913)|cleavage furrow (GO:0032154)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|membrane (GO:0016020)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ruffle (GO:0001726)|spindle (GO:0005819)|stress fiber (GO:0001725)|uropod (GO:0001931)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|motor activity (GO:0003774)|poly(A) RNA binding (GO:0044822)|protein anchor (GO:0043495)|protein homodimerization activity (GO:0042803)			NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						CCTCCAGCTCGCGCTGCAGTT	0.667			T	ALK	ALCL		"Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"		Hereditary Macrothrombocytopenia, MYH9-associated																													ENST00000216181.5				Dom	yes		22	22q13.1	4627	T	"myosin, heavy polypeptide 9, non-muscle"	yes	"Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"	L	ALK		ALCL		0				NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						c.(5692-5694)cgC>cgT		myosin, heavy chain 9, non-muscle							45	51	49					22																	36680210		2203	4300	6503	SO:0001819	synonymous_variant	4627	Hereditary Macrothrombocytopenia, MYH9-associated	Familial Cancer Database	MYHIIA syndrome, incl. Fechtner Syndrome, FTNS, and May-Hegglin Anomaly, MHA	actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity	g.chr22:36680210G>A		CCDS13927.1	22q13.1	2014-09-17	2006-09-29		ENSG00000100345	ENSG00000100345		"Myosins / Myosin superfamily : Class II"	7579	protein-coding gene	gene with protein product	"nonmuscle myosin heavy chain II-A"	160775	"myosin, heavy polypeptide 9, non-muscle"	DFNA17		1860190, 11023810	Standard	NM_002473		Approved	NMMHCA, NMHC-II-A, MHA, FTNS, EPSTS	uc003apg.3	P35579	OTTHUMG00000030429	ENST00000216181.5:c.5694C>T	22.37:g.36680210G>A						MYH9_ENST00000475726.1_5'UTR	p.R1898R	NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN			40	5924	-			1898					A8K6E4|O60805|Q60FE2|Q86T83	Silent	SNP	ENST00000216181.5	37	c.5694C>T	CCDS13927.1																																																																																				0.667	MYH9-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000259110.3	NM_002473		4	101	0	0	0	1	0	4	101					A	36680210	G	A	36680210	2	1	312	1	0	0	0	0	0	0	0	1	10042	1074	38	1		1	MYH9	22	36680210	Silent	SNP	G	TCGA-KK-A6E1-01A-11D-A30X-08		36680210	14624356	32	16053											
SULT4A1	25830	broad.mit.edu	37	chr22	44234801	44234801	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaggtgcctcggtagctcaTggtccgcagagagcggtgga	9	7	16	9	3	1	1	1	0	0	1	3	3	2	2	2	5	3	3	2	5	2	1			TCGA-KK-A6E1-01A-11D-A30X-08	TCGA-KK-A6E1-11A-21D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13b7e087-b8c9-4aca-82d5-bad335e8c8ac	94ff6d8f-9403-4266-a6a8-0c264a0116fd	g.chr22:44234801T>A	ENST00000330884.4	-	4	574	c.454A>T	c.(454-456)Atg>Ttg	p.M152L	SULT4A1_ENST00000540422.1_Intron|SULT4A1_ENST00000249130.5_Missense_Mutation_p.M152L	NM_014351.3	NP_055166.1	Q9BR01	ST4A1_HUMAN	sulfotransferase family 4A, member 1	152					3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	sulfotransferase activity (GO:0008146)			kidney(1)|large_intestine(3)|lung(4)|ovary(1)	9		Ovarian(80;0.024)|all_neural(38;0.0416)		Colorectal(1;0.00242)|READ - Rectum adenocarcinoma(1;0.0419)		CGGTAGCTCATGGTCCGCAGA	0.532																																						ENST00000330884.4																			0				kidney(1)|large_intestine(3)|lung(4)|ovary(1)	9						c.(454-456)Atg>Ttg		sulfotransferase family 4A, member 1							108	88	95					22																	44234801		2203	4300	6503	SO:0001583	missense	25830				3'-phosphoadenosine 5'-phosphosulfate metabolic process|steroid metabolic process|xenobiotic metabolic process	cytosol	sulfotransferase activity	g.chr22:44234801T>A	AF188698	CCDS14051.1	22q13.2	2012-11-05			ENSG00000130540	ENSG00000130540		"Sulfotransferases, cytosolic"	14903	protein-coding gene	gene with protein product		608359				10698717	Standard	NM_014351		Approved	SULTX3, hBR-STL-1	uc003bee.1	Q9BR01	OTTHUMG00000141314	ENST00000330884.4:c.454A>T	22.37:g.44234801T>A	ENSP00000332565:p.Met152Leu					SULT4A1_ENST00000540422.1_Intron|SULT4A1_ENST00000249130.5_Missense_Mutation_p.M152L	p.M152L	NM_014351.3	NP_055166.1	Q9BR01	ST4A1_HUMAN		Colorectal(1;0.00242)|READ - Rectum adenocarcinoma(1;0.0419)	4	574	-		Ovarian(80;0.024)|all_neural(38;0.0416)	152					B2R7N3|O43728	Missense_Mutation	SNP	ENST00000330884.4	37	c.454A>T	CCDS14051.1	.	.	.	.	.	.	.	.	.	.	T	10.24	1.296310	0.23650	.	.	ENSG00000130540	ENST00000330884;ENST00000249130	T;T	0.01422	4.91;4.91	4.82	4.82	0.62117	Sulfotransferase domain (1);	0.000000	0.85682	D	0.000000	T	0.00815	0.0027	N	0.02658	-0.545	0.58432	D	0.999997	B	0.32893	0.389	B	0.34536	0.185	T	0.60964	-0.7158	10	0.06365	T	0.9	.	13.5437	0.61690	0.0:0.0:0.0:1.0	.	152	Q9BR01	ST4A1_HUMAN	L	152	ENSP00000332565:M152L;ENSP00000249130:M152L	ENSP00000249130:M152L	M	-	1	0	SULT4A1	42566134	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.629000	0.83207	1.809000	0.52856	0.459000	0.35465	ATG		0.532	SULT4A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280660.2	NM_014351		25	48	0	0	0	1	0	25	48					A	44234801	T	A	44234801	3	1	312	1	0	0	0	0	1	0	0	0	15380	1464	51	5	416	5	SULT4A1	22	44234801	Missense_Mutation	SNP	T	TCGA-KK-A6E1-01A-11D-A30X-08	7554591	44234801	7069765	33	16054											
DOCK11	139818	broad.mit.edu	37	chrX	117775256	117775256	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacaccatatcatttttcacTcagtgcttcaaggtaaaaat	14	13	5	9	0	4	0	4	0	0	0	4	1	4	0	1	1	1	2	1	1	5	5	rs137900857		TCGA-KK-A6E1-01A-11D-A30X-08	TCGA-KK-A6E1-11A-21D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13b7e087-b8c9-4aca-82d5-bad335e8c8ac	94ff6d8f-9403-4266-a6a8-0c264a0116fd	g.chrX:117775256T>C	ENST00000276202.7	+	39	4311	c.4248T>C	c.(4246-4248)acT>acC	p.T1416T	DOCK11_ENST00000276204.6_Silent_p.T1416T	NM_144658.3	NP_653259.3	Q5JSL3	DOC11_HUMAN	dedicator of cytokinesis 11	1416					blood coagulation (GO:0007596)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	84						CATTTTTCACTCAGTGCTTCA	0.383																																						ENST00000276204.6																			0				breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	84						c.(4246-4248)acT>acC		dedicator of cytokinesis 11							102	80	87					X																	117775256		2203	4300	6503	SO:0001819	synonymous_variant	139818				blood coagulation	cytosol	GTP binding	g.chrX:117775256T>C	AK125641	CCDS35373.1	Xq24	2013-10-25			ENSG00000147251	ENSG00000147251		"Pleckstrin homology (PH) domain containing"	23483	protein-coding gene	gene with protein product	"zizimin2"	300681				12432077, 16968698	Standard	NM_144658		Approved	FLJ32122, FLJ43653, ZIZ2, ACG	uc004eqp.2	Q5JSL3	OTTHUMG00000022256	ENST00000276202.7:c.4248T>C	X.37:g.117775256T>C						DOCK11_ENST00000276202.7_Silent_p.T1416T	p.T1416T			Q5JSL3	DOC11_HUMAN			39	4322	+			1416					A6NMF0|Q66M66|Q6ZUJ5|Q86VU8|Q96MN3	Silent	SNP	ENST00000276202.7	37	c.4248T>C	CCDS35373.1																																																																																				0.383	DOCK11-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000356002.1	NM_144658		18	22	0	0	0	1	0	18	22					C	117775256	T	C	117775256	2	2	312	1	0	0	0	0	0	0	0	1	4686	1538	54	4		4	DOCK11	23	117775256	Silent	SNP	T	TCGA-KK-A6E1-01A-11D-A30X-08		117775256	37495304	34	16055											
PTGFRN	5738	broad.mit.edu	37	chr1	117484587	117484587	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttaaggcggactgccaacgaCgccgtggagctccacataaa	12	6	11	12	4	0	0	0	0	0	0	1	3	1	2	3	3	3	1	3	3	4	2			TCGA-KK-A6E2-01A-11D-A30X-08	TCGA-KK-A6E2-11A-21D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de2a74cb-41dc-42b1-831b-160074fee3b9	f6ecbcaa-aa62-4d04-afab-2d9e24ff0bbb	g.chr1:117484587C>T	ENST00000393203.2	+	2	447	c.300C>T	c.(298-300)gaC>gaT	p.D100D		NM_020440.2	NP_065173.2	Q9P2B2	FPRP_HUMAN	prostaglandin F2 receptor inhibitor	100	Ig-like C2-type 1.				lipid particle organization (GO:0034389)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				NS(1)|breast(1)|endometrium(4)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)	46	Lung SC(450;0.225)	all_cancers(81;0.00104)|all_lung(203;8.97e-05)|all_epithelial(167;0.000139)|Lung NSC(69;0.000446)		Lung(183;0.0704)|LUSC - Lung squamous cell carcinoma(189;0.227)|Colorectal(144;0.248)		CTGCCAACGACGCCGTGGAGC	0.587																																						ENST00000393203.2																			0				NS(1)|breast(1)|endometrium(4)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)	46						c.(298-300)gaC>gaT		prostaglandin F2 receptor inhibitor							93	85	88					1																	117484587		2203	4300	6503	SO:0001819	synonymous_variant	5738					endoplasmic reticulum membrane|Golgi apparatus|integral to membrane	protein binding	g.chr1:117484587C>T	AB014734	CCDS890.1	1p13.1	2013-01-29	2013-01-25		ENSG00000134247	ENSG00000134247		"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	9601	protein-coding gene	gene with protein product		601204	"prostaglandin F2 receptor negative regulator"			8655148	Standard	NM_020440		Approved	FPRP, EWI-F, CD9P-1, FLJ11001, KIAA1436, SMAP-6, CD315	uc001egv.1	Q9P2B2	OTTHUMG00000012028	ENST00000393203.2:c.300C>T	1.37:g.117484587C>T							p.D100D	NM_020440.2	NP_065173.2	Q9P2B2	FPRP_HUMAN		Lung(183;0.0704)|LUSC - Lung squamous cell carcinoma(189;0.227)|Colorectal(144;0.248)	2	447	+	Lung SC(450;0.225)	all_cancers(81;0.00104)|all_lung(203;8.97e-05)|all_epithelial(167;0.000139)|Lung NSC(69;0.000446)	100			Ig-like C2-type 1.		Q5VVU9|Q8N2K6	Silent	SNP	ENST00000393203.2	37	c.300C>T	CCDS890.1																																																																																				0.587	PTGFRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033271.1	NM_020440		9	45	0	0	0	1	0	9	45					T	117484587	C	T	117484587	2	4	313	1	0	0	0	0	0	0	0	1	12750	535	19	1		1	PTGFRN	1	117484587	Silent	SNP	C	TCGA-KK-A6E2-01A-11D-A30X-08		117484587	131766034	1	16056											
C1orf66	51093	broad.mit.edu	37	chr1	156704062	156704062	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctggcggctacccactgagtCagtgggtggctgggctgcct	4	9	16	12	1	1	1	1	1	0	0	1	1	1	1	2	5	2	3	2	5	1	1			TCGA-KK-A6E2-01A-11D-A30X-08	TCGA-KK-A6E2-11A-21D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de2a74cb-41dc-42b1-831b-160074fee3b9	f6ecbcaa-aa62-4d04-afab-2d9e24ff0bbb	g.chr1:156704062C>T	ENST00000368216.4	+	6	1528	c.898C>T	c.(898-900)Cag>Tag	p.Q300*	RRNAD1_ENST00000476229.1_Intron|RRNAD1_ENST00000368218.4_Intron	NM_015997.3	NP_057081.3	Q96FB5	RRNAD_HUMAN	ribosomal RNA adenine dimethylase domain containing 1	300						integral component of membrane (GO:0016021)	rRNA (adenine-N6,N6-)-dimethyltransferase activity (GO:0000179)			NS(1)|breast(1)|kidney(1)|large_intestine(3)|lung(3)	9						CCCACTGAGTCAGTGGGTGGC	0.627																																						ENST00000368216.4																			0				NS(1)|breast(1)|kidney(1)|large_intestine(3)|lung(3)	9						c.(898-900)Cag>Tag		ribosomal RNA adenine dimethylase domain containing 1							57	54	55					1																	156704062		2203	4300	6503	SO:0001587	stop_gained	51093					integral to membrane	rRNA (adenine-N6,N6-)-dimethyltransferase activity	g.chr1:156704062C>T	BC011382	CCDS1154.1, CCDS44246.1	1q23.1	2011-01-28	2011-01-28	2011-01-28	ENSG00000143303	ENSG00000143303			24273	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 66"	C1orf66		10810093, 310876	Standard	NM_015997		Approved	CGI-41	uc001fpu.3	Q96FB5	OTTHUMG00000041302	ENST00000368216.4:c.898C>T	1.37:g.156704062C>T	ENSP00000357199:p.Gln300*					RRNAD1_ENST00000368218.4_Intron|RRNAD1_ENST00000476229.1_Intron	p.Q300*	NM_015997.3	NP_057081.3	Q96FB5	RRNAD_HUMAN			6	1528	+			300					D3DVC7|Q4VX71|Q5SZ03|Q9Y358	Nonsense_Mutation	SNP	ENST00000368216.4	37	c.898C>T	CCDS1154.1	.	.	.	.	.	.	.	.	.	.	C	32	5.142065	0.94560	.	.	ENSG00000143303	ENST00000368216;ENST00000519086	.	.	.	5.28	3.27	0.37495	.	0.501719	0.22476	N	0.059545	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-12.8351	3.5574	0.07869	0.177:0.5618:0.1708:0.0905	.	.	.	.	X	300;279	.	ENSP00000357199:Q300X	Q	+	1	0	RRNAD1	154970686	0.147000	0.22687	1.000000	0.80357	0.980000	0.70556	0.029000	0.13666	1.227000	0.43598	-0.305000	0.09177	CAG		0.627	RRNAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098973.1	NM_015997		8	43	0	0	0	1	0	8	43					T	156704062	C	T	156704062	4	4	313	1	0	0	0	0	0	1	0	0	2056	827	29	3	920	3	C1orf66	1	156704062	Nonsense_Mutation	SNP	C	TCGA-KK-A6E2-01A-11D-A30X-08	39219475	156704062	92546559	2	16057											
EPRS	2058	broad.mit.edu	37	chr1	220170573	220170573	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tttcttggcttttaattcacGaaccacatctccttgaacag	10	15	5	11	1	3	1	1	1	2	0	4	2	3	1	2	1	2	1	2	1	3	6	rs200004369		TCGA-KK-A6E2-01A-11D-A30X-08	TCGA-KK-A6E2-11A-21D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de2a74cb-41dc-42b1-831b-160074fee3b9	f6ecbcaa-aa62-4d04-afab-2d9e24ff0bbb	g.chr1:220170573G>A	ENST00000366923.3	-	18	2562	c.2293C>T	c.(2293-2295)Cgt>Tgt	p.R765C		NM_004446.2	NP_004437.2	P07814	SYEP_HUMAN	glutamyl-prolyl-tRNA synthetase	765	3 X 57 AA approximate repeats.|WHEP-TRS 1.				cellular response to interferon-gamma (GO:0071346)|gene expression (GO:0010467)|glutamyl-tRNA aminoacylation (GO:0006424)|negative regulation of translation (GO:0017148)|prolyl-tRNA aminoacylation (GO:0006433)|protein complex assembly (GO:0006461)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|GAIT complex (GO:0097452)|membrane (GO:0016020)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|glutamate-tRNA ligase activity (GO:0004818)|proline-tRNA ligase activity (GO:0004827)|RNA stem-loop binding (GO:0035613)			breast(2)|endometrium(11)|kidney(2)|large_intestine(13)|lung(24)|ovary(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(3)	63				GBM - Glioblastoma multiforme(131;0.0735)	L-Proline(DB00172)	TTTAATTCACGAACCACATCT	0.388													G|||	1	0.000199681	0	0	5008	,	,		15125	0.001		0	False		,,,				2504	0					ENST00000366923.3																			0				breast(2)|endometrium(11)|kidney(2)|large_intestine(13)|lung(24)|ovary(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(3)	63						c.(2293-2295)Cgt>Tgt		glutamyl-prolyl-tRNA synthetase	L-Glutamic Acid(DB00142)|L-Proline(DB00172)						96	95	96					1																	220170573		2203	4300	6503	SO:0001583	missense	2058				glutamyl-tRNA aminoacylation|prolyl-tRNA aminoacylation|protein complex assembly	cytosol|soluble fraction	ATP binding|glutamate-tRNA ligase activity|proline-tRNA ligase activity|protein binding|RNA binding	g.chr1:220170573G>A	X54326	CCDS31027.1	1q41	2011-07-01			ENSG00000136628	ENSG00000136628	6.1.1.15, 6.1.1.17	"Aminoacyl tRNA synthetases / Class I", "Aminoacyl tRNA synthetases / Class II"	3418	protein-coding gene	gene with protein product	"glutamate tRNA ligase", "proline tRNA ligase"	138295		QPRS, QARS		1988429	Standard	NM_004446		Approved	EARS, PARS, GLUPRORS	uc001hly.1	P07814	OTTHUMG00000037433	ENST00000366923.3:c.2293C>T	1.37:g.220170573G>A	ENSP00000355890:p.Arg765Cys					EPRS_ENST00000464052.1_5'UTR	p.R765C	NM_004446.2	NP_004437.2	P07814	SYEP_HUMAN		GBM - Glioblastoma multiforme(131;0.0735)	18	2562	-			765			3 X 57 AA approximate repeats.|WHEP-TRS 1.		A0AVA9|B9EGH3|Q05BP6|Q05DF8|Q5DSM1|Q5H9S5|Q6PD57|Q86X73	Missense_Mutation	SNP	ENST00000366923.3	37	c.2293C>T	CCDS31027.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	16.11	3.029302	0.54790	.	.	ENSG00000136628	ENST00000366923;ENST00000536921;ENST00000435048	T	0.76186	-1.0	5.62	4.66	0.58398	WHEP-TRS (3);S15/NS1, RNA-binding (2);	0.000000	0.85682	D	0.000000	D	0.84696	0.5529	H	0.95850	3.73	0.80722	D	1	B;P;P	0.52842	0.443;0.691;0.956	B;B;P	0.51516	0.147;0.284;0.672	D	0.87174	0.2223	10	0.62326	D	0.03	-17.0859	7.7628	0.28961	0.0747:0.0:0.6443:0.2811	.	789;772;765	E7EMN0;Q3KQZ8;P07814	.;.;SYEP_HUMAN	C	765;772;789	ENSP00000355890:R765C	ENSP00000355890:R765C	R	-	1	0	EPRS	218237196	1.000000	0.71417	0.968000	0.41197	0.996000	0.88848	3.483000	0.53194	2.660000	0.90430	0.655000	0.94253	CGT		0.388	EPRS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091133.2	NM_004446		31	55	0	0	0	1	0	31	55					A	220170573	G	A	220170573	3	1	313	1	0	0	0	0	1	0	0	0	5191	1058	37	2	2305	2	EPRS	1	220170573	Missense_Mutation	SNP	G	TCGA-KK-A6E2-01A-11D-A30X-08	63466511	220170573	29080048	3	16058											
IFT172	26160	broad.mit.edu	37	chr2	27677277	27677277	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aattcagcttcagcctcttcGaatttaccctacagggagag	11	11	8	11	1	3	1	2	0	1	1	4	3	3	1	2	1	4	1	2	1	4	6	rs534566990		TCGA-KK-A6E2-01A-11D-A30X-08	TCGA-KK-A6E2-11A-21D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de2a74cb-41dc-42b1-831b-160074fee3b9	f6ecbcaa-aa62-4d04-afab-2d9e24ff0bbb	g.chr2:27677277G>A	ENST00000260570.3	-	32	3577	c.3474C>T	c.(3472-3474)ttC>ttT	p.F1158F		NM_015662.1	NP_056477.1	Q9UG01	IF172_HUMAN	intraflagellar transport 172	1158					bone development (GO:0060348)|brain development (GO:0007420)|cilium assembly (GO:0042384)|cytoplasmic microtubule organization (GO:0031122)|dorsal/ventral pattern formation (GO:0009953)|epidermis development (GO:0008544)|heart looping (GO:0001947)|hindgut development (GO:0061525)|left/right axis specification (GO:0070986)|limb development (GO:0060173)|negative regulation of epithelial cell proliferation (GO:0050680)|neural tube closure (GO:0001843)|Notch signaling pathway (GO:0007219)|palate development (GO:0060021)|positive regulation of smoothened signaling pathway (GO:0045880)|protein processing (GO:0016485)|smoothened signaling pathway (GO:0007224)|spinal cord motor neuron differentiation (GO:0021522)	axoneme (GO:0005930)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|intraciliary transport particle B (GO:0030992)|sperm midpiece (GO:0097225)|sperm principal piece (GO:0097228)|vesicle (GO:0031982)				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(17)|lung(17)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	43	Acute lymphoblastic leukemia(172;0.155)					CAGCCTCTTCGAATTTACCCT	0.522													G|||	1	0.000199681	0	0	5008	,	,		19703	0		0	False		,,,				2504	0.001					ENST00000260570.3																			0				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(17)|lung(17)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	43						c.(3472-3474)ttC>ttT		intraflagellar transport 172 homolog (Chlamydomonas)							116	115	115					2																	27677277		2203	4300	6503	SO:0001819	synonymous_variant	26160				cilium assembly	cilium	binding	g.chr2:27677277G>A	AB033005	CCDS1755.1	2p23.3	2014-07-03	2014-07-03		ENSG00000138002	ENSG00000138002		"Intraflagellar transport homologs", "WD repeat domain containing"	30391	protein-coding gene	gene with protein product	"wimple homolog"	607386	"intraflagellar transport 172 homolog (Chlamydomonas)"			10788441, 10574461, 24140113	Standard	XM_005264254		Approved	SLB, wim, osm-1, NPHP17	uc002rku.3	Q9UG01	OTTHUMG00000128425	ENST00000260570.3:c.3474C>T	2.37:g.27677277G>A							p.F1158F	NM_015662.1	NP_056477.1	Q9UG01	IF172_HUMAN			32	3577	-	Acute lymphoblastic leukemia(172;0.155)		1158					A5PKZ0|B2RNU5|Q86X44|Q96HW4|Q9UFJ9|Q9ULP1	Silent	SNP	ENST00000260570.3	37	c.3474C>T	CCDS1755.1	.	.	.	.	.	.	.	.	.	.	G	7.759	0.704944	0.15172	.	.	ENSG00000138002	ENST00000443889	.	.	.	5.6	4.45	0.53987	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-11.1812	9.8011	0.40764	0.9165:0.0:0.0835:0.0	.	.	.	.	X	27	.	.	R	-	1	2	IFT172	27530781	1.000000	0.71417	1.000000	0.80357	0.777000	0.43975	0.929000	0.28844	0.965000	0.38133	-0.379000	0.06801	CGA		0.522	IFT172-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250213.2	NM_015662		24	67	0	0	0	1	0	24	67					A	27677277	G	A	27677277	2	1	313	1	0	0	0	0	0	0	0	1	7557	1049	37	2		2	IFT172	2	27677277	Silent	SNP	G	TCGA-KK-A6E2-01A-11D-A30X-08		27677277	215522096	4	16059											
APLF	200558	broad.mit.edu	37	chr2	68765198	68765198	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aattgttcgagtgcccagggCgactcacttcaggatgagtc	9	10	12	10	2	2	1	2	1	0	0	4	4	2	2	1	2	1	1	1	2	1	3			TCGA-KK-A6E2-01A-11D-A30X-08	TCGA-KK-A6E2-11A-21D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de2a74cb-41dc-42b1-831b-160074fee3b9	f6ecbcaa-aa62-4d04-afab-2d9e24ff0bbb	g.chr2:68765198C>T	ENST00000303795.4	+	7	1170	c.999C>T	c.(997-999)ggC>ggT	p.G333G	APLF_ENST00000471727.1_3'UTR	NM_173545.2	NP_775816.1	Q8IW19	APLF_HUMAN	aprataxin and PNKP like factor	333					cellular response to DNA damage stimulus (GO:0006974)|DNA catabolic process, endonucleolytic (GO:0000737)|double-strand break repair (GO:0006302)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|positive regulation of DNA ligation (GO:0051106)|regulation of isotype switching (GO:0045191)|single strand break repair (GO:0000012)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)	3'-5' exonuclease activity (GO:0008408)|DNA-(apurinic or apyrimidinic site) lyase activity (GO:0003906)|endodeoxyribonuclease activity (GO:0004520)|metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(9)|ovary(3)|prostate(1)|skin(1)	25						GTGCCCAGGGCGACTCACTTC	0.423																																						ENST00000303795.4																			0				autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(9)|ovary(3)|prostate(1)|skin(1)	25						c.(997-999)ggC>ggT		aprataxin and PNKP like factor							92	86	88					2																	68765198		2203	4300	6503	SO:0001819	synonymous_variant	200558				double-strand break repair|single strand break repair	cytosol|nucleus	3'-5' exonuclease activity|DNA-(apurinic or apyrimidinic site) lyase activity|endodeoxyribonuclease activity|metal ion binding|nucleotide binding|protein binding	g.chr2:68765198C>T	BC030711	CCDS1888.1	2p14	2014-02-20	2008-10-01	2008-10-01	ENSG00000169621	ENSG00000169621			28724	protein-coding gene	gene with protein product	"XRCC1-interacting protein 1", "zinc finger, CX5CX6HX5H motif containing 1"	611035	"chromosome 2 open reading frame 13"	C2orf13		18474613, 18077224, 17353262	Standard	NM_173545		Approved	MGC47799, Xip1, ZCCHH1	uc002sep.3	Q8IW19	OTTHUMG00000129566	ENST00000303795.4:c.999C>T	2.37:g.68765198C>T						APLF_ENST00000471727.1_3'UTR	p.G333G	NM_173545.2	NP_775816.1	Q8IW19	APLF_HUMAN			7	1170	+			333					A8K476|Q53P47|Q53PB9|Q53QU0	Silent	SNP	ENST00000303795.4	37	c.999C>T	CCDS1888.1																																																																																				0.423	APLF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251759.1	NM_173545		6	54	0	0	0	1	0	6	54					T	68765198	C	T	68765198	2	4	313	1	0	0	0	0	0	0	0	1	776	755	27	1		1	APLF	2	68765198	Silent	SNP	C	TCGA-KK-A6E2-01A-11D-A30X-08	41087921	68765198	174434175	5	16060											
ZNF35	7584	broad.mit.edu	37	chr3	44700678	44700678	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcagagaatccacactggaCagaaaccttatgtttgctca	14	10	7	10	0	2	2	2	0	0	2	3	4	3	3	2	1	2	2	2	1	3	2			TCGA-KK-A6E2-01A-11D-A30X-08	TCGA-KK-A6E2-11A-21D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de2a74cb-41dc-42b1-831b-160074fee3b9	f6ecbcaa-aa62-4d04-afab-2d9e24ff0bbb	g.chr3:44700678C>A	ENST00000396056.2	+	4	1058	c.823C>A	c.(823-825)Cag>Aag	p.Q275K	ZNF35_ENST00000542250.1_Missense_Mutation_p.Q115K|RP11-944L7.4_ENST00000457331.1_RNA|ZNF35_ENST00000296092.3_3'UTR	NM_003420.3	NP_003411.3	P13682	ZNF35_HUMAN	zinc finger protein 35	275					cellular response to retinoic acid (GO:0071300)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cell (GO:0005623)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			large_intestine(3)|liver(2)|lung(4)|ovary(1)|prostate(1)|skin(1)	12		Ovarian(412;0.0228)		OV - Ovarian serous cystadenocarcinoma(275;2.49e-27)|KIRC - Kidney renal clear cell carcinoma(197;0.0475)|Kidney(197;0.0595)		CCACACTGGACAGAAACCTTA	0.423																																						ENST00000396056.2																			0				large_intestine(3)|liver(2)|lung(4)|ovary(1)|prostate(1)|skin(1)	12						c.(823-825)Cag>Aag		zinc finger protein 35							58	57	58					3																	44700678		2203	4300	6503	SO:0001583	missense	7584				cellular response to retinoic acid|spermatogenesis	nucleus|perinuclear region of cytoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr3:44700678C>A	X07289	CCDS2718.2	3p21.32	2013-01-08	2006-05-11		ENSG00000169981	ENSG00000169981		"Zinc fingers, C2H2-type"	13099	protein-coding gene	gene with protein product		194533	"zinc finger protein 35 (clone HF.10)"			2108922, 1572646	Standard	NM_003420		Approved	HF.10, HF10, Zfp105	uc003cnq.3	P13682	OTTHUMG00000133091	ENST00000396056.2:c.823C>A	3.37:g.44700678C>A	ENSP00000379368:p.Gln275Lys					ZNF35_ENST00000296092.3_3'UTR|RP11-944L7.4_ENST00000457331.1_RNA|ZNF35_ENST00000542250.1_Missense_Mutation_p.Q115K	p.Q275K	NM_003420.3	NP_003411.3	P13682	ZNF35_HUMAN		OV - Ovarian serous cystadenocarcinoma(275;2.49e-27)|KIRC - Kidney renal clear cell carcinoma(197;0.0475)|Kidney(197;0.0595)	4	1058	+		Ovarian(412;0.0228)	275					B2RBU6|Q53Y54|Q96D01	Missense_Mutation	SNP	ENST00000396056.2	37	c.823C>A	CCDS2718.2	.	.	.	.	.	.	.	.	.	.	C	19.08	3.757925	0.69648	.	.	ENSG00000169981	ENST00000396056;ENST00000542250	T;T	0.16324	2.35;2.35	5.43	3.57	0.40892	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.44097	D	0.000487	T	0.15435	0.0372	N	0.05510	-0.035	0.34795	D	0.736075	P	0.50819	0.939	P	0.56960	0.81	T	0.06917	-1.0800	10	0.72032	D	0.01	-24.5256	8.8494	0.35190	0.1382:0.5354:0.3264:0.0	.	275	P13682	ZNF35_HUMAN	K	275;115	ENSP00000379368:Q275K;ENSP00000443714:Q115K	ENSP00000379368:Q275K	Q	+	1	0	ZNF35	44675682	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.875000	0.56108	2.824000	0.97209	0.655000	0.94253	CAG		0.423	ZNF35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256749.4	NM_003420		4	60	1	0	0.000602214	1	0.000644035	4	60					A	44700678	C	A	44700678	3	1	313	1	0	0	0	0	1	0	0	0	17859	479	17	5	833	5	ZNF35	3	44700678	Missense_Mutation	SNP	C	TCGA-KK-A6E2-01A-11D-A30X-08		44700678	153321752	6	16061											
COL6A6	131873	broad.mit.edu	37	chr3	130289977	130289977	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cactgaagcccggggcagccGcctgaacaagggggtccccc	8	3	14	16	2	0	2	0	2	0	0	1	2	1	2	5	4	3	1	5	4	3	0			TCGA-KK-A6E2-01A-11D-A30X-08	TCGA-KK-A6E2-11A-21D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de2a74cb-41dc-42b1-831b-160074fee3b9	f6ecbcaa-aa62-4d04-afab-2d9e24ff0bbb	g.chr3:130289977G>A	ENST00000358511.6	+	6	2748	c.2717G>A	c.(2716-2718)cGc>cAc	p.R906H	COL6A6_ENST00000453409.2_Missense_Mutation_p.R906H	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	906	Nonhelical region.|VWFA 5. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						CGGGGCAGCCGCCTGAACAAG	0.547																																						ENST00000358511.6																			0				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						c.(2716-2718)cGc>cAc		collagen, type VI, alpha 6							39	41	40					3																	130289977		1884	4098	5982	SO:0001583	missense	131873				axon guidance|cell adhesion	collagen		g.chr3:130289977G>A	AL713792	CCDS46911.1	3q22.1	2013-01-16			ENSG00000206384	ENSG00000206384		"Collagens"	27023	protein-coding gene	gene with protein product							Standard	NM_001102608		Approved		uc010htl.3	A6NMZ7	OTTHUMG00000159653	ENST00000358511.6:c.2717G>A	3.37:g.130289977G>A	ENSP00000351310:p.Arg906His					COL6A6_ENST00000453409.2_Missense_Mutation_p.R906H	p.R906H	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN			6	2748	+			906			Nonhelical region.|VWFA 5.		A7DZQ0|A7DZQ1|A7DZQ2|Q69YT0	Missense_Mutation	SNP	ENST00000358511.6	37	c.2717G>A	CCDS46911.1	.	.	.	.	.	.	.	.	.	.	G	28.5	4.928298	0.92389	.	.	ENSG00000206384	ENST00000358511;ENST00000453409	D;D	0.88046	-2.33;-2.33	4.92	4.92	0.64577	von Willebrand factor, type A (3);	0.000000	0.64402	D	0.000018	D	0.95487	0.8534	H	0.94925	3.6	0.54753	D	0.999983	D	0.89917	1.0	D	0.87578	0.998	D	0.96746	0.9550	10	0.87932	D	0	.	18.0758	0.89426	0.0:0.0:1.0:0.0	.	906	A6NMZ7	CO6A6_HUMAN	H	906	ENSP00000351310:R906H;ENSP00000399236:R906H	ENSP00000351310:R906H	R	+	2	0	COL6A6	131772667	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	9.436000	0.97532	2.460000	0.83146	0.561000	0.74099	CGC		0.547	COL6A6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356705.5	NM_001102608		5	18	0	0	0	1	0	5	18					A	130289977	G	A	130289977	3	1	313	1	0	0	0	0	1	0	0	0	3703	1087	38	1	2739	1	COL6A6	3	130289977	Missense_Mutation	SNP	G	TCGA-KK-A6E2-01A-11D-A30X-08	85589299	130289977	67732453	7	16062											
PCDHB15	56121	broad.mit.edu	37	chr5	140627360	140627360	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttccagggcatctggtggaCgtgagcggcaccgggaccct	6	8	15	12	3	1	1	0	1	1	0	2	3	2	3	3	5	1	2	3	5	0	1			TCGA-KK-A6E2-01A-11D-A30X-08	TCGA-KK-A6E2-11A-21D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de2a74cb-41dc-42b1-831b-160074fee3b9	f6ecbcaa-aa62-4d04-afab-2d9e24ff0bbb	g.chr5:140627360C>T	ENST00000231173.3	+	1	2214	c.2214C>T	c.(2212-2214)gaC>gaT	p.D738D		NM_018935.2	NP_061758.1	Q9Y5E8	PCDBF_HUMAN	protocadherin beta 15	738					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|endometrium(8)|kidney(3)|large_intestine(14)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	61			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ATCTGGTGGACGTGAGCGGCA	0.602																																						ENST00000231173.3																			0				NS(1)|breast(3)|endometrium(8)|kidney(3)|large_intestine(14)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	61						c.(2212-2214)gaC>gaT									103	117	112					5																	140627360		2203	4297	6500	SO:0001819	synonymous_variant	0				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	g.chr5:140627360C>T	AF152494	CCDS4257.1	5q31	2011-06-07			ENSG00000113248	ENSG00000113248		"Cadherins / Protocadherins : Clustered"	8686	other	protocadherin		606341				10380929	Standard	NM_018935		Approved	PCDH-BETA15	uc003lje.3	Q9Y5E8	OTTHUMG00000129609	ENST00000231173.3:c.2214C>T	5.37:g.140627360C>T							p.D738D	NM_018935.2	NP_061758.1	Q9Y5E8	PCDBF_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	2214	+			738					Q8IUX5	Silent	SNP	ENST00000231173.3	37	c.2214C>T	CCDS4257.1																																																																																				0.602	PCDHB15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251804.2	NM_018935		5	180	0	0	0	1	0	5	180					T	140627360	C	T	140627360	2	4	313	1	0	0	0	0	0	0	0	1	11540	535	19	1		1	PCDHB15	5	140627360	Silent	SNP	C	TCGA-KK-A6E2-01A-11D-A30X-08		140627360	40287900	8	16063											
RBM27	54439	broad.mit.edu	37	chr5	145664215	145664215	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aagggccaaaatttaaagacCgtcggctacagatatcatgg	15	8	10	8	2	1	2	1	0	0	2	2	2	1	2	2	3	1	1	2	3	7	4	rs199579077		TCGA-KK-A6E2-01A-11D-A30X-08	TCGA-KK-A6E2-11A-21D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de2a74cb-41dc-42b1-831b-160074fee3b9	f6ecbcaa-aa62-4d04-afab-2d9e24ff0bbb	g.chr5:145664215C>T	ENST00000265271.5	+	20	3185	c.3019C>T	c.(3019-3021)Cgt>Tgt	p.R1007C	RBM27_ENST00000506502.1_Intron	NM_018989.1	NP_061862.1	Q9P2N5	RBM27_HUMAN	RNA binding motif protein 27	1007					mRNA processing (GO:0006397)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(2)|breast(1)|central_nervous_system(3)|endometrium(4)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	39			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ATTTAAAGACCGTCGGCTACA	0.378													C|||	1	0.000199681	0	0	5008	,	,		14425	0.001		0	False		,,,				2504	0					ENST00000265271.5																			0				NS(2)|breast(1)|central_nervous_system(3)|endometrium(4)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	39						c.(3019-3021)Cgt>Tgt		RNA binding motif protein 27		C	CYS/ARG	3,3133		0,3,1565	106	102	103		3019	6	1	5		103	0,7164		0,0,3582	yes	missense	RBM27	NM_018989.1	180	0,3,5147	TT,TC,CC		0.0,0.0957,0.0291	probably-damaging	1007/1061	145664215	3,10297	1568	3582	5150	SO:0001583	missense	54439				mRNA processing	cytoplasm|nuclear speck	nucleotide binding|RNA binding|zinc ion binding	g.chr5:145664215C>T	AL833706	CCDS43378.1	5q32	2013-01-09				ENSG00000091009		"Zinc fingers, CCCH-type domain containing", "RNA binding motif (RRM) containing"	29243	protein-coding gene	gene with protein product	"acidic rich RS domain containing 1"					10718198, 15741184	Standard	NM_018989		Approved	KIAA1311, ARRS1, Psc1, ZC3H18	uc003lnz.4	Q9P2N5		ENST00000265271.5:c.3019C>T	5.37:g.145664215C>T	ENSP00000265271:p.Arg1007Cys					RBM27_ENST00000506502.1_Intron	p.R1007C	NM_018989.1	NP_061862.1	Q9P2N5	RBM27_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		20	3185	+			1007					Q8IYW9	Missense_Mutation	SNP	ENST00000265271.5	37	c.3019C>T	CCDS43378.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	32	5.151044	0.94645	9.57E-4	0.0	ENSG00000091009	ENST00000265271	T	0.50277	0.75	6.03	6.03	0.97812	.	0.000000	0.85682	D	0.000000	T	0.67392	0.2888	L	0.54323	1.7	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	T	0.66666	-0.5866	10	0.87932	D	0	-11.5556	20.5568	0.99304	0.0:1.0:0.0:0.0	.	1007	Q9P2N5	RBM27_HUMAN	C	1007	ENSP00000265271:R1007C	ENSP00000265271:R1007C	R	+	1	0	RBM27	145644408	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.865000	0.75500	2.861000	0.98227	0.655000	0.94253	CGT		0.378	RBM27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373420.1	XM_291128		49	69	0	0	0	1	0	49	69					T	145664215	C	T	145664215	3	4	313	1	0	0	0	0	1	0	0	0	13127	652	23	2	3097	2	RBM27	5	145664215	Missense_Mutation	SNP	C	TCGA-KK-A6E2-01A-11D-A30X-08	5036855	145664215	35251045	9	16064											
MIOS	54468	broad.mit.edu	37	chr7	7613322	7613322	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tatcaaggtatggacttgatAcagagcaggtgtggaggaac	13	9	14	5	0	1	2	1	1	0	1	1	5	1	5	0	5	3	2	0	5	5	4			TCGA-KK-A6E2-01A-11D-A30X-08	TCGA-KK-A6E2-11A-21D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de2a74cb-41dc-42b1-831b-160074fee3b9	f6ecbcaa-aa62-4d04-afab-2d9e24ff0bbb	g.chr7:7613322A>G	ENST00000340080.4	+	4	1637	c.1216A>G	c.(1216-1218)Aca>Gca	p.T406A	MIOS_ENST00000405785.1_Missense_Mutation_p.T406A	NM_019005.3	NP_061878.3	Q9NXC5	MIO_HUMAN	missing oocyte, meiosis regulator, homolog (Drosophila)	406						lysosomal membrane (GO:0005765)				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(15)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						TGGACTTGATACAGAGCAGGT	0.373																																						ENST00000340080.4																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(15)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(1216-1218)Aca>Gca		missing oocyte, meiosis regulator, homolog (Drosophila)							93	88	90					7																	7613322		1873	4111	5984	SO:0001583	missense	54468							g.chr7:7613322A>G		CCDS43554.1	7p21.3	2011-09-12			ENSG00000164654	ENSG00000164654			21905	protein-coding gene	gene with protein product	"WD repeat-containing protein mio"	615359				14973288	Standard	NM_019005		Approved	FLJ20323	uc003srf.3	Q9NXC5	OTTHUMG00000152440	ENST00000340080.4:c.1216A>G	7.37:g.7613322A>G	ENSP00000339881:p.Thr406Ala					MIOS_ENST00000405785.1_Missense_Mutation_p.T406A	p.T406A	NM_019005.3	NP_061878.3	Q9NXC5	MIO_HUMAN			4	1637	+			406					B2RTV6|O75216|Q7L551|Q9H092	Missense_Mutation	SNP	ENST00000340080.4	37	c.1216A>G	CCDS43554.1	.	.	.	.	.	.	.	.	.	.	A	9.620	1.133640	0.21123	.	.	ENSG00000164654	ENST00000340080;ENST00000405785	T;T	0.41758	0.99;0.99	5.7	5.7	0.88788	.	0.049316	0.85682	D	0.000000	T	0.31231	0.0790	L	0.32530	0.975	0.80722	D	1	B	0.15719	0.014	B	0.20955	0.032	T	0.14420	-1.0473	10	0.02654	T	1	-19.3527	16.275	0.82640	1.0:0.0:0.0:0.0	.	406	Q9NXC5	MIO_HUMAN	A	406	ENSP00000339881:T406A;ENSP00000384088:T406A	ENSP00000339881:T406A	T	+	1	0	MIOS	7579847	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.896000	0.92521	2.299000	0.77371	0.528000	0.53228	ACA		0.373	MIOS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326218.1	NM_019005		5	81	0	0	0	1	0	5	81					G	7613322	A	G	7613322	3	3	313	1	0	0	0	0	1	0	0	0	9589	391	14	4	1218	4	MIOS	7	7613322	Missense_Mutation	SNP	A	TCGA-KK-A6E2-01A-11D-A30X-08		7613322	151525341	10	16065											
LRRN3	54674	broad.mit.edu	37	chr7	110764636	110764637	+	Frame_Shift_Ins	INS	-	-	A																															accatctatcagaaaaacagINSaaaaaaatgtgtaaatgtca																										TCGA-KK-A6E2-01A-11D-A30X-08	TCGA-KK-A6E2-11A-21D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de2a74cb-41dc-42b1-831b-160074fee3b9	f6ecbcaa-aa62-4d04-afab-2d9e24ff0bbb	g.chr7:110764636_110764637insA	ENST00000422987.3	+	2	2639_2640	c.1808_1809insA	c.(1807-1812)agaaaafs	p.RK603fs	IMMP2L_ENST00000331762.3_Intron|IMMP2L_ENST00000489381.1_Intron|LRRN3_ENST00000308478.5_Frame_Shift_Ins_p.RK603fs|IMMP2L_ENST00000415362.1_Intron|IMMP2L_ENST00000405709.2_Intron|LRRN3_ENST00000451085.1_Frame_Shift_Ins_p.RK603fs|IMMP2L_ENST00000452895.1_Intron|IMMP2L_ENST00000450877.1_Intron|IMMP2L_ENST00000437687.1_Intron|IMMP2L_ENST00000447215.1_Intron	NM_018334.4	NP_060804.3	Q9H3W5	LRRN3_HUMAN	leucine rich repeat neuronal 3	603	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.				positive regulation of protein phosphorylation (GO:0001934)	clathrin adaptor complex (GO:0030131)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(15)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				UCEC - Uterine corpus endometrioid carcinoma (4;0.245)|LUSC - Lung squamous cell carcinoma(290;0.0715)|Lung(3;0.0864)|STAD - Stomach adenocarcinoma(3;0.125)		CAGAAAAACAGAAAAAAATGTG	0.356																																						ENST00000451085.1																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(15)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	55						c.(1807-1809)aaafs		leucine rich repeat neuronal 3																																				SO:0001589	frameshift_variant	54674					integral to membrane		g.chr7:110764636_110764637insA	AB060967	CCDS5754.1	7q31.1	2013-02-11			ENSG00000173114	ENSG00000173114		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	17200	protein-coding gene	gene with protein product	"fibronectin type III, immunoglobulin and leucine rich repeat domains 5"					11549284	Standard	NM_001099660		Approved	NLRR3, FLJ11129, FIGLER5	uc003vfs.4	Q9H3W5	OTTHUMG00000155039	ENST00000422987.3:c.1815dupA	7.37:g.110764643_110764643dupA	ENSP00000412417:p.Arg603fs					IMMP2L_ENST00000450877.1_Intron|IMMP2L_ENST00000331762.3_Intron|IMMP2L_ENST00000437687.1_Intron|LRRN3_ENST00000308478.5_Frame_Shift_Ins_p.K603fs|IMMP2L_ENST00000415362.1_Intron|IMMP2L_ENST00000405709.2_Intron|IMMP2L_ENST00000489381.1_Intron|IMMP2L_ENST00000452895.1_Intron|LRRN3_ENST00000422987.3_Frame_Shift_Ins_p.K603fs|IMMP2L_ENST00000447215.1_Intron	p.K603fs	NM_001099660.1	NP_001093130.1	Q9H3W5	LRRN3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;0.245)|LUSC - Lung squamous cell carcinoma(290;0.0715)|Lung(3;0.0864)|STAD - Stomach adenocarcinoma(3;0.125)	4	2854_2855	+			603			Fibronectin type-III.		O43377|Q6I9V8|Q8IYQ6	Frame_Shift_Ins	INS	ENST00000422987.3	37	c.1808_1809insA	CCDS5754.1																																																																																				0.356	LRRN3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338171.2	NM_018334		8	26						8	26	---	---	---	---	A	110764637	-	A	110764636	7	5	313	1	0	1	1	0	0	0	0	0	9036	942	33	0	1810	0	LRRN3	7	110764636	Frame_Shift_Ins	INS	-	TCGA-KK-A6E2-01A-11D-A30X-08	103151314	110764636	48374027	11	16066											
CSMD1	64478	broad.mit.edu	37	chr8	3141832	3141832	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcccagaccttgaggatgtcGtgagccatctccgtgtcgaa	8	10	11	12	3	1	3	0	2	1	1	5	5	2	4	4	1	1	0	4	1	1	1			TCGA-KK-A6E2-01A-11D-A30X-08	TCGA-KK-A6E2-11A-21D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de2a74cb-41dc-42b1-831b-160074fee3b9	f6ecbcaa-aa62-4d04-afab-2d9e24ff0bbb	g.chr8:3141832G>A	ENST00000520002.1	-	27	4545	c.3990C>T	c.(3988-3990)caC>caT	p.H1330H	CSMD1_ENST00000602723.1_Silent_p.H1330H|CSMD1_ENST00000400186.3_Silent_p.H1330H|CSMD1_ENST00000542608.1_Silent_p.H1329H|CSMD1_ENST00000539096.1_Silent_p.H1329H|CSMD1_ENST00000602557.1_Silent_p.H1330H|CSMD1_ENST00000523387.1_5'UTR|CSMD1_ENST00000537824.1_Silent_p.H1329H			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	1330	CUB 8. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		TGAGGATGTCGTGAGCCATCT	0.567											OREG0018505	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000520002.1																			0				breast(20)|large_intestine(5)	25						c.(3988-3990)caC>caT		CUB and Sushi multiple domains 1							85	89	88					8																	3141832		2121	4228	6349	SO:0001819	synonymous_variant	64478					integral to membrane		g.chr8:3141832G>A			8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	14026	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 24"	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.3990C>T	8.37:g.3141832G>A			OREG0018505	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	608	CSMD1_ENST00000602723.1_Silent_p.H1330H|CSMD1_ENST00000400186.3_Silent_p.H1330H|CSMD1_ENST00000602557.1_Silent_p.H1330H|CSMD1_ENST00000542608.1_Silent_p.H1329H|CSMD1_ENST00000539096.1_Silent_p.H1329H|CSMD1_ENST00000537824.1_Silent_p.H1329H|CSMD1_ENST00000523387.1_5'UTR	p.H1330H			Q96PZ7	CSMD1_HUMAN		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)	27	4545	-		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)	1330			CUB 8.		Q0H0J5|Q96QU9|Q96RM4	Silent	SNP	ENST00000520002.1	37	c.3990C>T		.	.	.	.	.	.	.	.	.	.	G	7.738	0.700659	0.15106	.	.	ENSG00000183117	ENST00000335551	.	.	.	5.12	-7.09	0.01553	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.4752	0.75471	0.752:0.0:0.248:0.0	.	.	.	.	X	810	.	.	R	-	1	2	CSMD1	3129239	0.074000	0.21230	0.523000	0.27875	0.755000	0.42902	-0.405000	0.07196	-1.506000	0.01805	-1.332000	0.01269	CGA		0.567	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000374500.2	NM_033225		3	29	0	0	0	1	0	3	29					A	3141832	G	A	3141832	2	1	313	1	0	0	0	0	0	0	0	1	3944	1136	40	1		1	CSMD1	8	3141832	Silent	SNP	G	TCGA-KK-A6E2-01A-11D-A30X-08		3141832	143222190	12	16067											
ST18	9705	broad.mit.edu	37	chr8	53079446	53079446	+	Silent	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcactttgtgggggcacccCgaaaggctgcggtggtgcgg	5	7	18	11	4	0	0	0	0	0	0	0	1	0	0	2	6	2	3	2	6	1	1	rs375570357		TCGA-KK-A6E2-01A-11D-A30X-08	TCGA-KK-A6E2-11A-21D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de2a74cb-41dc-42b1-831b-160074fee3b9	f6ecbcaa-aa62-4d04-afab-2d9e24ff0bbb	g.chr8:53079446C>G	ENST00000276480.7	-	11	1853	c.1170G>C	c.(1168-1170)tcG>tcC	p.S390S		NM_014682.2	NP_055497.1	O60284	ST18_HUMAN	suppression of tumorigenicity 18, zinc finger	390					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.S390S(1)		NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				GGGGGCACCCCGAAAGGCTGC	0.562																																						ENST00000276480.7																			1	Substitution - coding silent(1)	p.S390S(1)	lung(1)	NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85						c.(1168-1170)tcG>tcC		suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein)							89	89	89					8																	53079446		2203	4300	6503	SO:0001819	synonymous_variant	9705					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:53079446C>G	AB011107	CCDS6149.1	8q11.23	2014-03-24	2014-03-24	2002-12-13	ENSG00000147488	ENSG00000147488		"Zinc fingers, C2HC-type containing"	18695	protein-coding gene	gene with protein product	"neural zinc finger transcription factor 3"		"zinc finger protein 387", "suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein)"	ZNF387		15489893	Standard	NM_014682		Approved	KIAA0535, ZC2HC10, NZF3	uc003xra.2	O60284	OTTHUMG00000164233	ENST00000276480.7:c.1170G>C	8.37:g.53079446C>G							p.S390S	NM_014682.2	NP_055497.1	O60284	ST18_HUMAN			11	1853	-		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)	390					Q17RY1	Silent	SNP	ENST00000276480.7	37	c.1170G>C	CCDS6149.1																																																																																				0.562	ST18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377867.1			10	82	0	0	0	1	0	10	82					G	53079446	C	G	53079446	2	3	313	1	0	0	0	0	0	0	0	1	15211	639	23	5		5	ST18	8	53079446	Silent	SNP	C	TCGA-KK-A6E2-01A-11D-A30X-08	49937614	53079446	93284576	13	16068											
RP1	6101	broad.mit.edu	37	chr8	55538088	55538088	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aagtgcaataagtgctggtgTtatagaaattacaagtcaga	16	11	10	4	0	1	2	1	0	0	2	1	2	1	2	0	1	3	3	0	1	8	4			TCGA-KK-A6E2-01A-11D-A30X-08	TCGA-KK-A6E2-11A-21D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de2a74cb-41dc-42b1-831b-160074fee3b9	f6ecbcaa-aa62-4d04-afab-2d9e24ff0bbb	g.chr8:55538088T>C	ENST00000220676.1	+	4	1794	c.1646T>C	c.(1645-1647)gTt>gCt	p.V549A		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	549					axoneme assembly (GO:0035082)|cellular response to light stimulus (GO:0071482)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|photoreceptor cell outer segment organization (GO:0035845)|phototransduction, visible light (GO:0007603)|retinal cone cell development (GO:0046549)|retinal rod cell development (GO:0046548)|visual perception (GO:0007601)	axoneme (GO:0005930)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)	microtubule binding (GO:0008017)			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			AGTGCTGGTGTTATAGAAATT	0.333																																					Colon(91;1014 1389 7634 14542 40420)	ENST00000220676.1																			0				NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169						c.(1645-1647)gTt>gCt		retinitis pigmentosa 1 (autosomal dominant)							80	83	82					8																	55538088		2203	4300	6503	SO:0001583	missense	6101				axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding	g.chr8:55538088T>C	AF146592	CCDS6160.1	8q12.1	2013-01-08				ENSG00000104237			10263	protein-coding gene	gene with protein product		603937				1783394	Standard	NM_006269		Approved	DCDC4A	uc003xsd.1	P56715		ENST00000220676.1:c.1646T>C	8.37:g.55538088T>C	ENSP00000220676:p.Val549Ala						p.V549A	NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)		4	1794	+		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	549						Missense_Mutation	SNP	ENST00000220676.1	37	c.1646T>C	CCDS6160.1	.	.	.	.	.	.	.	.	.	.	T	10.13	1.265590	0.23136	.	.	ENSG00000104237	ENST00000220676	T	0.29142	1.58	5.52	4.37	0.52481	.	0.419548	0.20074	N	0.099796	T	0.22975	0.0555	L	0.39898	1.24	0.20307	N	0.999919	B	0.29909	0.261	B	0.20184	0.028	T	0.10941	-1.0608	10	0.33141	T	0.24	.	10.5982	0.45352	0.0:0.0761:0.0:0.9239	.	549	P56715	RP1_HUMAN	A	549	ENSP00000220676:V549A	ENSP00000220676:V549A	V	+	2	0	RP1	55700641	0.991000	0.36638	0.901000	0.35422	0.969000	0.65631	1.793000	0.38764	0.942000	0.37525	0.528000	0.53228	GTT		0.333	RP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378532.2	NM_006269		19	33	0	0	0	1	0	19	33					C	55538088	T	C	55538088	3	2	313	1	0	0	0	0	1	0	0	0	13532	1725	60	4	1656	4	RP1	8	55538088	Missense_Mutation	SNP	T	TCGA-KK-A6E2-01A-11D-A30X-08	2458642	55538088	90825934	14	16069											
ZFHX4	79776	broad.mit.edu	37	chr8	77616490	77616490	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caacctgaaaacggatgagcGcaaaagtgaagccttgctgg	14	6	12	9	2	0	3	0	3	0	0	0	4	0	4	2	2	5	2	2	2	6	1	rs192355194		TCGA-KK-A6E2-01A-11D-A30X-08	TCGA-KK-A6E2-11A-21D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de2a74cb-41dc-42b1-831b-160074fee3b9	f6ecbcaa-aa62-4d04-afab-2d9e24ff0bbb	g.chr8:77616490G>A	ENST00000521891.2	+	2	615	c.167G>A	c.(166-168)cGc>cAc	p.R56H	ZFHX4_ENST00000455469.2_Missense_Mutation_p.R56H|ZFHX4_ENST00000518282.1_Missense_Mutation_p.R56H|ZFHX4_ENST00000517683.1_Intron|ZFHX4_ENST00000050961.6_Missense_Mutation_p.R56H	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	56					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			ACGGATGAGCGCAAAAGTGAA	0.498										HNSCC(33;0.089)			G|||	1	0.000199681	0	0.0014	5008	,	,		19288	0		0	False		,,,				2504	0					ENST00000521891.2																			0				NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432						c.(166-168)cGc>cAc		zinc finger homeobox 4							84	89	88					8																	77616490		2061	4222	6283	SO:0001583	missense	79776					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:77616490G>A		CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"Homeoboxes / ZF class"	30939	protein-coding gene	gene with protein product		606940	"zinc finger homeodomain 4"			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.167G>A	8.37:g.77616490G>A	ENSP00000430497:p.Arg56His	HNSCC(33;0.089)				ZFHX4_ENST00000455469.2_Missense_Mutation_p.R56H|ZFHX4_ENST00000517683.1_Intron|ZFHX4_ENST00000518282.1_Missense_Mutation_p.R56H|ZFHX4_ENST00000050961.6_Missense_Mutation_p.R56H	p.R56H	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.0895)		2	615	+			56					G3V138|Q18PS0|Q6ZN20	Missense_Mutation	SNP	ENST00000521891.2	37	c.167G>A	CCDS47878.2	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	14.35	2.509662	0.44660	.	.	ENSG00000091656	ENST00000521891;ENST00000399468;ENST00000455469;ENST00000050961;ENST00000520307;ENST00000523885;ENST00000517585;ENST00000523809;ENST00000518282	T;T;T;T;T;T;T;T	0.51325	0.71;0.75;0.72;1.43;0.85;1.43;0.85;0.71	5.53	4.64	0.57946	.	0.000000	0.45361	U	0.000366	T	0.34395	0.0896	N	0.19112	0.55	0.40733	D	0.98276	B;B;B;D	0.54964	0.04;0.067;0.067;0.969	B;B;B;B	0.41571	0.006;0.008;0.013;0.36	T	0.33007	-0.9885	10	0.56958	D	0.05	.	14.9651	0.71184	0.0695:0.0:0.9305:0.0	.	56;56;56;56	Q86UP3;Q86UP3-4;G3V138;Q86UP3-3	ZFHX4_HUMAN;.;.;.	H	56	ENSP00000430497:R56H;ENSP00000399605:R56H;ENSP00000050961:R56H;ENSP00000428525:R56H;ENSP00000429495:R56H;ENSP00000427775:R56H;ENSP00000427739:R56H;ENSP00000430848:R56H	ENSP00000050961:R56H	R	+	2	0	ZFHX4	77779045	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.013000	0.70776	2.882000	0.98803	0.655000	0.94253	CGC		0.498	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	NM_024721		9	79	0	0	0	1	0	9	79					A	77616490	G	A	77616490	3	1	313	1	0	0	0	0	1	0	0	0	17632	1087	38	1	169	1	ZFHX4	8	77616490	Missense_Mutation	SNP	G	TCGA-KK-A6E2-01A-11D-A30X-08	22078402	77616490	68747532	15	16070											
RALYL	138046	broad.mit.edu	37	chr8	85441793	85441793	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gctggagaaaatgccagagtCatcgccggccaaccacttgg	11	6	12	12	2	1	2	1	0	0	2	2	3	1	2	4	3	2	1	4	3	3	1			TCGA-KK-A6E2-01A-11D-A30X-08	TCGA-KK-A6E2-11A-21D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de2a74cb-41dc-42b1-831b-160074fee3b9	f6ecbcaa-aa62-4d04-afab-2d9e24ff0bbb	g.chr8:85441793C>G	ENST00000521268.1	+	2	1342	c.237C>G	c.(235-237)gtC>gtG	p.V79V	RALYL_ENST00000518566.1_Silent_p.V79V|RALYL_ENST00000517638.1_Silent_p.V92V|RALYL_ENST00000521695.1_Silent_p.V79V|RALYL_ENST00000522455.1_Silent_p.V79V	NM_173848.5	NP_776247.3	Q86SE5	RALYL_HUMAN	RALY RNA binding protein-like	79	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.						nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)	24						ATGCCAGAGTCATCGCCGGCC	0.428																																						ENST00000521268.1																			0				endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)	24						c.(235-237)gtC>gtG		RALY RNA binding protein-like							50	53	52					8																	85441793		2051	4205	6256	SO:0001819	synonymous_variant	138046						identical protein binding|nucleotide binding|RNA binding	g.chr8:85441793C>G		CCDS55252.1, CCDS55253.1, CCDS75760.1, CCDS75761.1	8q21.2	2013-07-16			ENSG00000184672	ENSG00000184672		"RNA binding motif (RRM) containing"	27036	protein-coding gene	gene with protein product		614648				12688537	Standard	NM_001100391		Approved	HNRPCL3	uc003yct.4	Q86SE5	OTTHUMG00000164628	ENST00000521268.1:c.237C>G	8.37:g.85441793C>G						RALYL_ENST00000518566.1_Silent_p.V79V|RALYL_ENST00000522455.1_Silent_p.V79V|RALYL_ENST00000517638.1_Silent_p.V92V|RALYL_ENST00000521695.1_Silent_p.V79V	p.V79V	NM_173848.5	NP_776247.3	Q86SE5	RALYL_HUMAN			2	1342	+			79			RRM.		B3KTH2|G3V129|Q6ZW87|Q8N1C2	Silent	SNP	ENST00000521268.1	37	c.237C>G	CCDS55253.1																																																																																				0.428	RALYL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379448.1			3	39	0	0	0	1	0	3	39					G	85441793	C	G	85441793	2	3	313	1	0	0	0	0	0	0	0	1	13020	813	29	5		5	RALYL	8	85441793	Silent	SNP	C	TCGA-KK-A6E2-01A-11D-A30X-08	7825303	85441793	60922229	16	16071											
RCL1	10171	broad.mit.edu	37	chr9	4834198	4834198	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagtggttttctcatgtcctGtgaggaaggtcttgaagccc	8	13	12	8	0	2	2	1	2	2	0	4	3	3	3	2	3	1	1	2	3	3	3			TCGA-KK-A6E2-01A-11D-A30X-08	TCGA-KK-A6E2-11A-21D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de2a74cb-41dc-42b1-831b-160074fee3b9	f6ecbcaa-aa62-4d04-afab-2d9e24ff0bbb	g.chr9:4834198G>A	ENST00000381750.4	+	5	740	c.517G>A	c.(517-519)Gtg>Atg	p.V173M	RCL1_ENST00000381730.1_5'Flank	NM_005772.3	NP_005763.3	Q9Y2P8	RCL1_HUMAN	RNA terminal phosphate cyclase-like 1	173					ribosome biogenesis (GO:0042254)|RNA processing (GO:0006396)	nucleolus (GO:0005730)	catalytic activity (GO:0003824)			breast(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	9	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.0206)|Breast(48;0.147)		GBM - Glioblastoma multiforme(50;0.0244)		CTCATGTCCTGTGAGGAAGGT	0.463																																						ENST00000381750.4																			0				breast(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	9						c.(517-519)Gtg>Atg		RNA terminal phosphate cyclase-like 1							101	90	94					9																	4834198		2203	4300	6503	SO:0001583	missense	10171				ribosome biogenesis|RNA processing	nucleolus	RNA-3'-phosphate cyclase activity	g.chr9:4834198G>A	AJ276894	CCDS6456.1, CCDS69565.1, CCDS75810.1	9p24.1-p23	2008-02-05			ENSG00000120158	ENSG00000120158			17687	protein-coding gene	gene with protein product		611405					Standard	NM_001286701		Approved	RPCL1, RNAC	uc003zis.2	Q9Y2P8	OTTHUMG00000019474	ENST00000381750.4:c.517G>A	9.37:g.4834198G>A	ENSP00000371169:p.Val173Met						p.V173M	NM_005772.3	NP_005763.3	Q9Y2P8	RCL1_HUMAN		GBM - Glioblastoma multiforme(50;0.0244)	5	740	+	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.0206)|Breast(48;0.147)	173					D3DRI2|Q5VYW9|Q5VZU1|Q9H9D0|Q9NY00|Q9P044	Missense_Mutation	SNP	ENST00000381750.4	37	c.517G>A	CCDS6456.1	.	.	.	.	.	.	.	.	.	.	G	13.63	2.293712	0.40594	.	.	ENSG00000120158	ENST00000381750;ENST00000442869	.	.	.	6.02	3.23	0.37069	-terminal phosphate cyclase-like, eukaryotic (2);-terminal phosphate cyclase domain (2);RNA 3&apos (6);-terminal phosphate cyclase/enolpyruvate transferase, alpha/beta (1);-terminal phosphate cyclase (1);	0.632035	0.15880	N	0.240086	T	0.51924	0.1703	M	0.64080	1.96	0.58432	D	0.999998	P	0.34699	0.464	B	0.33121	0.158	T	0.40346	-0.9568	9	0.33940	T	0.23	-8.9346	10.1612	0.42853	0.2634:0.0:0.7366:0.0	.	173	Q9Y2P8	RCL1_HUMAN	M	173;15	.	ENSP00000371169:V173M	V	+	1	0	RCL1	4824198	1.000000	0.71417	0.545000	0.28153	0.323000	0.28346	3.009000	0.49552	0.448000	0.26722	-0.157000	0.13467	GTG		0.463	RCL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051587.1	NM_005772		17	18	0	0	0	1	0	17	18					A	4834198	G	A	4834198	3	1	313	1	0	0	0	0	1	0	0	0	13178	1377	48	3	535	3	RCL1	9	4834198	Missense_Mutation	SNP	G	TCGA-KK-A6E2-01A-11D-A30X-08		4834198	136379233	17	16072											
DHTKD1	55526	broad.mit.edu	37	chr10	12129647	12129647	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctgaaaatgtcggcctacagCgggatcactgatgtcattat	11	11	10	9	2	2	2	2	2	0	0	3	3	2	3	1	2	2	0	1	2	4	2			TCGA-KK-A6E2-01A-11D-A30X-08	TCGA-KK-A6E2-11A-21D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de2a74cb-41dc-42b1-831b-160074fee3b9	f6ecbcaa-aa62-4d04-afab-2d9e24ff0bbb	g.chr10:12129647C>T	ENST00000263035.4	+	4	698	c.636C>T	c.(634-636)agC>agT	p.S212S	DHTKD1_ENST00000465617.1_3'UTR	NM_018706.5	NP_061176	Q96HY7	DHTK1_HUMAN	dehydrogenase E1 and transketolase domain containing 1	212					cell death (GO:0008219)|generation of precursor metabolites and energy (GO:0006091)|glycolytic process (GO:0006096)|hematopoietic progenitor cell differentiation (GO:0002244)|tricarboxylic acid cycle (GO:0006099)	mitochondrion (GO:0005739)	oxoglutarate dehydrogenase (succinyl-transferring) activity (GO:0004591)|thiamine pyrophosphate binding (GO:0030976)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(1)	44		Renal(717;0.228)	BRCA - Breast invasive adenocarcinoma(52;0.188)			CGGCCTACAGCGGGATCACTG	0.517																																						ENST00000263035.4																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(1)	44						c.(634-636)agC>agT		dehydrogenase E1 and transketolase domain containing 1							141	118	126					10																	12129647		2203	4300	6503	SO:0001819	synonymous_variant	55526				glycolysis	mitochondrion	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding	g.chr10:12129647C>T	BC002477	CCDS7087.1	10p14	2003-11-24			ENSG00000181192	ENSG00000181192			23537	protein-coding gene	gene with protein product		614984				10997877	Standard	NM_018706		Approved	KIAA1630, MGC3090, DKFZP762M115	uc001ild.5	Q96HY7	OTTHUMG00000017677	ENST00000263035.4:c.636C>T	10.37:g.12129647C>T						DHTKD1_ENST00000465617.1_3'UTR	p.S212S	NM_018706.5	NP_061176.3	Q96HY7	DHTK1_HUMAN	BRCA - Breast invasive adenocarcinoma(52;0.188)		4	698	+		Renal(717;0.228)	212					Q68CU5|Q9BUM8|Q9HCE2	Silent	SNP	ENST00000263035.4	37	c.636C>T	CCDS7087.1																																																																																				0.517	DHTKD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046777.1	NM_018706		16	27	0	0	0	1	0	16	27					T	12129647	C	T	12129647	2	4	313	1	0	0	0	0	0	0	0	1	4500	767	27	1		1	DHTKD1	10	12129647	Silent	SNP	C	TCGA-KK-A6E2-01A-11D-A30X-08		12129647	123405100	18	16073											
RBP3	5949	broad.mit.edu	37	chr10	48389662	48389662	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggccacccctggtgagtcttCggctgcagcgtcgggcgcgg	3	7	17	14	5	1	1	0	1	1	0	3	1	1	1	3	5	2	2	3	5	0	1	rs576373730		TCGA-KK-A6E2-01A-11D-A30X-08	TCGA-KK-A6E2-11A-21D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de2a74cb-41dc-42b1-831b-160074fee3b9	f6ecbcaa-aa62-4d04-afab-2d9e24ff0bbb	g.chr10:48389662C>T	ENST00000224600.4	-	1	1329	c.1216G>A	c.(1216-1218)Gaa>Aaa	p.E406K	AL731561.2_ENST00000581861.1_RNA	NM_002900.2	NP_002891.1	P10745	RET3_HUMAN	retinol binding protein 3, interstitial	406	4 X approximate tandem repeats.				lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|transport (GO:0006810)|visual perception (GO:0007601)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|interphotoreceptor matrix (GO:0033165)|vesicle (GO:0031982)	retinal binding (GO:0016918)|retinoid binding (GO:0005501)|retinol binding (GO:0019841)|serine-type peptidase activity (GO:0008236)	p.E406K(1)		central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59					Vitamin A(DB00162)	GGTGAGTCTTCGGCTGCAGCG	0.652																																						ENST00000224600.4																			1	Substitution - Missense(1)	p.E406K(1)	central_nervous_system(1)	central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59						c.(1216-1218)Gaa>Aaa		retinol binding protein 3, interstitial	Vitamin A(DB00162)						39	40	40					10																	48389662		2203	4300	6503	SO:0001583	missense	5949				lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity	g.chr10:48389662C>T	M22453	CCDS73119.1	10q11.2	2014-05-06	2001-11-28		ENSG00000107618	ENSG00000265203			9921	protein-coding gene	gene with protein product		180290	"retinol-binding protein 3, interstitial"				Standard	NM_002900		Approved	D10S64, D10S65, D10S66, RP66	uc001jez.3	P10745	OTTHUMG00000188321	ENST00000224600.4:c.1216G>A	10.37:g.48389662C>T	ENSP00000224600:p.Glu406Lys						p.E406K	NM_002900.2	NP_002891.1	P10745	RET3_HUMAN			1	1329	-			406			4 X approximate tandem repeats.		Q0QD34|Q5VSR0|Q8IXN0	Missense_Mutation	SNP	ENST00000224600.4	37	c.1216G>A	CCDS7218.1	.	.	.	.	.	.	.	.	.	.	C	10.67	1.416011	0.25552	.	.	ENSG00000107618	ENST00000224600	T	0.63744	-0.06	5.43	2.47	0.30058	.	1.032620	0.07630	N	0.928425	T	0.55893	0.1949	L	0.48362	1.52	0.09310	N	1	D	0.69078	0.997	B	0.44163	0.443	T	0.45205	-0.9277	10	0.62326	D	0.03	-2.6457	5.8616	0.18752	0.0:0.6688:0.1585:0.1727	.	406	P10745	RET3_HUMAN	K	406	ENSP00000224600:E406K	ENSP00000224600:E406K	E	-	1	0	RBP3	48009668	0.442000	0.25633	0.000000	0.03702	0.027000	0.11550	2.522000	0.45572	0.241000	0.21283	0.561000	0.74099	GAA		0.652	RBP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047888.1	NM_002900		4	45	0	0	0	1	0	4	45					T	48389662	C	T	48389662	3	4	313	1	0	0	0	0	1	0	0	0	13157	893	31	2	2543	2	RBP3	10	48389662	Missense_Mutation	SNP	C	TCGA-KK-A6E2-01A-11D-A30X-08	36260015	48389662	87145085	19	16074											
PNLIP	5406	broad.mit.edu	37	chr10	118307881	118307881	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgtctaaacaggaagttgccGcagattcatcaagcatcagt	13	10	9	9	1	4	1	3	0	1	1	4	2	4	2	1	1	3	3	1	1	4	3	rs374563946		TCGA-KK-A6E2-01A-11D-A30X-08	TCGA-KK-A6E2-11A-21D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de2a74cb-41dc-42b1-831b-160074fee3b9	f6ecbcaa-aa62-4d04-afab-2d9e24ff0bbb	g.chr10:118307881G>A	ENST00000369221.2	+	4	239	c.211G>A	c.(211-213)Gca>Aca	p.A71T	PNLIP_ENST00000470562.1_3'UTR	NM_000936.2	NP_000927.1	P16233	LIPP_HUMAN	pancreatic lipase	71					intestinal cholesterol absorption (GO:0030299)|lipid catabolic process (GO:0016042)|lipid digestion (GO:0044241)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)	metal ion binding (GO:0046872)|triglyceride lipase activity (GO:0004806)			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	43				all cancers(201;0.0131)	Glycerol Phenylbutyrate(DB08909)|Orlistat(DB01083)	GGAAGTTGCCGCAGATTCATC	0.403													G|||	1	0.000199681	0	0.0014	5008	,	,		19822	0		0	False		,,,				2504	0					ENST00000369221.2																			0				central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	43						c.(211-213)Gca>Aca		pancreatic lipase	Bentiromide(DB00522)|Orlistat(DB01083)						128	135	132					10																	118307881		2203	4300	6503	SO:0001583	missense	5406				lipid catabolic process|retinoid metabolic process|steroid metabolic process	extracellular region	retinyl-palmitate esterase activity|triglyceride lipase activity	g.chr10:118307881G>A	BC014309	CCDS7594.1	10q25.3	2012-07-31			ENSG00000175535	ENSG00000175535	3.1.1.3		9155	protein-coding gene	gene with protein product		246600				1783385	Standard	NM_000936		Approved	PL	uc001lcm.3	P16233	OTTHUMG00000019103	ENST00000369221.2:c.211G>A	10.37:g.118307881G>A	ENSP00000358223:p.Ala71Thr					PNLIP_ENST00000470562.1_3'UTR	p.A71T	NM_000936.2	NP_000927.1	P16233	LIPP_HUMAN		all cancers(201;0.0131)	4	239	+			71					Q5VSQ2	Missense_Mutation	SNP	ENST00000369221.2	37	c.211G>A	CCDS7594.1	.	.	.	.	.	.	.	.	.	.	G	12.49	1.953899	0.34471	.	.	ENSG00000175535	ENST00000369221	D	0.90197	-2.63	5.39	3.41	0.39046	Lipase, N-terminal (1);	0.426572	0.16310	U	0.220048	T	0.81550	0.4846	N	0.16862	0.45	0.30170	N	0.801342	B	0.17268	0.021	B	0.11329	0.006	T	0.73461	-0.3975	10	0.24483	T	0.36	.	11.1893	0.48675	0.0:0.1332:0.7201:0.1467	.	71	P16233	LIPP_HUMAN	T	71	ENSP00000358223:A71T	ENSP00000358223:A71T	A	+	1	0	PNLIP	118297871	0.909000	0.30893	0.862000	0.33874	0.085000	0.17905	1.274000	0.33132	1.454000	0.47793	0.585000	0.79938	GCA		0.403	PNLIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050524.1	NM_000936		35	71	0	0	0	1	0	35	71					A	118307881	G	A	118307881	3	1	313	1	0	0	0	0	1	0	0	0	12149	1087	38	1	221	1	PNLIP	10	118307881	Missense_Mutation	SNP	G	TCGA-KK-A6E2-01A-11D-A30X-08	69918219	118307881	17226866	20	16075											
CPXM2	119587	broad.mit.edu	37	chr10	125506294	125506294	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagggtcacccacgctgtcGtctcttctgcccccgcagct	4	9	11	17	3	3	0	1	0	2	0	5	1	3	1	3	2	2	3	3	2	0	1			TCGA-KK-A6E2-01A-11D-A30X-08	TCGA-KK-A6E2-11A-21D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de2a74cb-41dc-42b1-831b-160074fee3b9	f6ecbcaa-aa62-4d04-afab-2d9e24ff0bbb	g.chr10:125506294G>A	ENST00000241305.3	-	14	2411	c.2257C>T	c.(2257-2259)Cga>Tga	p.R753*	CPXM2_ENST00000368854.3_Intron	NM_198148.2	NP_937791.2	Q8N436	CPXM2_HUMAN	carboxypeptidase X (M14 family), member 2	753					cell adhesion (GO:0007155)	extracellular space (GO:0005615)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)	47		all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233)		COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237)		CCACGCTGTCGTCTCTTCTGC	0.577																																						ENST00000241305.3																			0				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)	47						c.(2257-2259)Cga>Tga		carboxypeptidase X (M14 family), member 2							52	55	54					10																	125506294		2203	4300	6503	SO:0001587	stop_gained	119587				cell adhesion|proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding	g.chr10:125506294G>A	AY358565	CCDS7637.1	10q26	2012-02-10			ENSG00000121898	ENSG00000121898			26977	protein-coding gene	gene with protein product	"cytosolic carboxypeptidase"					12975309	Standard	NM_198148		Approved	UNQ676, CPX2	uc001lhk.1	Q8N436	OTTHUMG00000019206	ENST00000241305.3:c.2257C>T	10.37:g.125506294G>A	ENSP00000241305:p.Arg753*					CPXM2_ENST00000368854.3_Intron	p.R753*	NM_198148.2	NP_937791.2	Q8N436	CPXM2_HUMAN		COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237)	14	2411	-		all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233)	753					B4E3Q2	Nonsense_Mutation	SNP	ENST00000241305.3	37	c.2257C>T	CCDS7637.1	.	.	.	.	.	.	.	.	.	.	G	39	7.799577	0.98495	.	.	ENSG00000121898	ENST00000241305;ENST00000540123;ENST00000418782	.	.	.	5.62	4.71	0.59529	.	0.133527	0.46145	D	0.000305	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-18.0889	13.5288	0.61611	0.0:0.0:0.7185:0.2815	.	.	.	.	X	753;586;728	.	ENSP00000241305:R753X	R	-	1	2	CPXM2	125496284	1.000000	0.71417	0.543000	0.28128	0.885000	0.51271	3.065000	0.49994	1.347000	0.45714	0.655000	0.94253	CGA		0.577	CPXM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050853.1	NM_198148		7	73	0	0	0	1	0	7	73					A	125506294	G	A	125506294	4	1	313	1	0	0	0	0	0	1	0	0	3838	1153	40	1	17	1	CPXM2	10	125506294	Nonsense_Mutation	SNP	G	TCGA-KK-A6E2-01A-11D-A30X-08	7198413	125506294	10028453	21	16076											
MUC5B	727897	broad.mit.edu	37	chr11	1258365	1258365	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agcagtgcagcatcctccacGgccccaccttcgccgcctgc	6	6	9	20	3	0	0	0	0	0	0	3	0	2	0	7	1	4	3	7	1	0	1	rs376966273		TCGA-KK-A6E2-01A-11D-A30X-08	TCGA-KK-A6E2-11A-21D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de2a74cb-41dc-42b1-831b-160074fee3b9	f6ecbcaa-aa62-4d04-afab-2d9e24ff0bbb	g.chr11:1258365G>A	ENST00000529681.1	+	25	3326	c.3268G>A	c.(3268-3270)Ggc>Agc	p.G1090S	MUC5B_ENST00000447027.1_Missense_Mutation_p.G1093S	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	1090	VWFD 3. {ECO:0000255|PROSITE- ProRule:PRU00580}.				cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CATCCTCCACGGCCCCACCTT	0.697																																						ENST00000447027.1																			0				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137						c.(3277-3279)Ggc>Agc		mucin 5B, oligomeric mucus/gel-forming		G	SER/GLY	23,3951		0,23,1964	29	39	36		3268	0.4	0.2	11		36	0,8308		0,0,4154	no	missense	MUC5B	NM_002458.2	56	0,23,6118	AA,AG,GG		0.0,0.5788,0.1873	benign	1090/5763	1258365	23,12259	1987	4154	6141	SO:0001583	missense	727897				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	g.chr11:1258365G>A	U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"Mucins"	7516	protein-coding gene	gene with protein product		600770	"mucin 5, subtype B, tracheobronchial"	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.3268G>A	11.37:g.1258365G>A	ENSP00000436812:p.Gly1090Ser					MUC5B_ENST00000529681.1_Missense_Mutation_p.G1090S	p.G1093S			Q9HC84	MUC5B_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)	25	3335	+		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	1090			VWFD 3.		O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Missense_Mutation	SNP	ENST00000529681.1	37	c.3277G>A	CCDS44515.2	.	.	.	.	.	.	.	.	.	.	G	9.009	0.981928	0.18812	0.005788	0.0	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637;ENST00000406844	T;T	0.74737	-0.87;-0.87	4.38	0.436	0.16549	von Willebrand factor, type D domain (1);Uncharacterised domain, cysteine-rich (2);	.	.	.	.	T	0.34600	0.0903	N	0.01656	-0.775	0.27313	N	0.957262	B;B;B	0.33528	0.041;0.416;0.416	B;B;B	0.26969	0.009;0.075;0.021	T	0.32455	-0.9906	9	0.87932	D	0	.	8.0312	0.30465	0.5936:0.0:0.4064:0.0	.	1090;1783;1093	Q9HC84;A7Y9J9;E9PBJ0	MUC5B_HUMAN;.;.	S	1090;1093;1091;1160	ENSP00000436812:G1090S;ENSP00000415793:G1093S	ENSP00000343037:G1091S	G	+	1	0	MUC5B	1214941	0.235000	0.23794	0.237000	0.24090	0.114000	0.19823	1.077000	0.30741	-0.233000	0.09797	0.462000	0.41574	GGC		0.697	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093		4	28	0	0	0	1	0	4	28					A	1258365	G	A	1258365	3	1	313	1	0	0	0	0	1	0	0	0	9979	1116	39	2	3375	2	MUC5B	11	1258365	Missense_Mutation	SNP	G	TCGA-KK-A6E2-01A-11D-A30X-08		1258365	133748151	22	16077											
DCHS1	8642	broad.mit.edu	37	chr11	6649894	6649894	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	cccattggctcccacatctgGatcagaggcccgaagcatgg	9	7	11	14	1	2	1	1	0	1	1	3	3	3	2	3	4	1	2	3	4	1	1			TCGA-KK-A6E2-01A-11D-A30X-08	TCGA-KK-A6E2-11A-21D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de2a74cb-41dc-42b1-831b-160074fee3b9	f6ecbcaa-aa62-4d04-afab-2d9e24ff0bbb	g.chr11:6649894G>C	ENST00000299441.3	-	13	5740	c.5329C>G	c.(5329-5331)Cca>Gca	p.P1777A	RP11-732A19.6_ENST00000526633.1_RNA	NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	1777	Cadherin 17. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|calcium-dependent cell-cell adhesion (GO:0016339)|cochlea development (GO:0090102)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|neural tube development (GO:0021915)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|post-anal tail morphogenesis (GO:0036342)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CCCACATCTGGATCAGAGGCC	0.567																																						ENST00000299441.3																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103						c.(5329-5331)Cca>Gca		dachsous cadherin-related 1							106	96	99					11																	6649894		2201	4296	6497	SO:0001583	missense	8642				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr11:6649894G>C	AB000895	CCDS7771.1	11p15.4	2013-10-04	2013-10-04	2004-09-03	ENSG00000166341	ENSG00000166341		"Cadherins / Cadherin-related"	13681	protein-coding gene	gene with protein product	"cadherin-related family member 6"	603057	"protocadherin 16", "dachsous 1 (Drosophila)"	CDH25, PCDH16		9199196	Standard	XM_005253207		Approved	FIB1, KIAA1773, FLJ11790, CDHR6	uc001mem.1	Q96JQ0	OTTHUMG00000133398	ENST00000299441.3:c.5329C>G	11.37:g.6649894G>C	ENSP00000299441:p.Pro1777Ala						p.P1777A	NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	13	5740	-		Medulloblastoma(188;0.00263)|all_neural(188;0.026)	1777			Cadherin 17.		O15098	Missense_Mutation	SNP	ENST00000299441.3	37	c.5329C>G	CCDS7771.1	.	.	.	.	.	.	.	.	.	.	G	14.98	2.695931	0.48202	.	.	ENSG00000166341	ENST00000299441	T	0.48201	0.82	4.91	4.91	0.64330	Cadherin (4);Cadherin-like (1);	0.000000	0.44902	D	0.000409	T	0.37812	0.1017	N	0.25825	0.765	0.29495	N	0.85534	P	0.48162	0.906	P	0.49085	0.6	T	0.22521	-1.0214	10	0.02654	T	1	.	13.0742	0.59077	0.0:0.1611:0.8389:0.0	.	1777	Q96JQ0	PCD16_HUMAN	A	1777	ENSP00000299441:P1777A	ENSP00000299441:P1777A	P	-	1	0	DCHS1	6606470	1.000000	0.71417	1.000000	0.80357	0.722000	0.41435	4.216000	0.58540	2.561000	0.86390	0.563000	0.77884	CCA		0.567	DCHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257258.1	NM_003737		23	42	0	0	0	1	0	23	42					C	6649894	G	C	6649894	3	2	313	1	0	0	0	0	1	0	0	0	4287	1174	41	5	4603	5	DCHS1	11	6649894	Missense_Mutation	SNP	G	TCGA-KK-A6E2-01A-11D-A30X-08	5391529	6649894	128356622	23	16078											
SHANK2	22941	broad.mit.edu	37	chr11	70319509	70319509	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaaggtgaccgtcgtgctcCgtgtacctgagatggtgctc	6	11	14	10	3	0	3	0	3	0	1	3	4	1	3	3	2	3	3	3	2	2	1			TCGA-KK-A6E2-01A-11D-A30X-08	TCGA-KK-A6E2-11A-21D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de2a74cb-41dc-42b1-831b-160074fee3b9	f6ecbcaa-aa62-4d04-afab-2d9e24ff0bbb	g.chr11:70319509C>T	ENST00000423696.2	-	16	3914	c.3878G>A	c.(3877-3879)cGg>cAg	p.R1293Q	SHANK2_ENST00000338508.4_Missense_Mutation_p.R1673Q|SHANK2_ENST00000409161.1_Missense_Mutation_p.R1076Q|SHANK2_ENST00000449833.2_Missense_Mutation_p.R1077Q			Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2	1293					adult behavior (GO:0030534)|learning (GO:0007612)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|vocalization behavior (GO:0071625)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|cell junction (GO:0030054)|ciliary membrane (GO:0060170)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|growth cone (GO:0030426)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	GKAP/Homer scaffold activity (GO:0030160)|ionotropic glutamate receptor binding (GO:0035255)			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			CGTCGTGCTCCGTGTACCTGA	0.597																																						ENST00000338508.4																			0				NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62						c.(5017-5019)cGg>cAg		SH3 and multiple ankyrin repeat domains 2							61	60	60					11																	70319509		2200	4294	6494	SO:0001583	missense	22941				intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding	g.chr11:70319509C>T	AF141901		11q13.2	2013-01-10			ENSG00000162105	ENSG00000162105		"Sterile alpha motif (SAM) domain containing", "Ankyrin repeat domain containing"	14295	protein-coding gene	gene with protein product		603290	"cortactin binding protein 1"	CORTBP1		10506216	Standard	XM_005277930		Approved	CTTNBP1, ProSAP1, SHANK, SPANK-3	uc001oqc.3	Q9UPX8	OTTHUMG00000154615	ENST00000423696.2:c.3878G>A	11.37:g.70319509C>T	ENSP00000394536:p.Arg1293Gln					SHANK2_ENST00000449833.2_Missense_Mutation_p.R1077Q|SHANK2_ENST00000409161.1_Missense_Mutation_p.R1076Q|SHANK2_ENST00000423696.2_Missense_Mutation_p.R1293Q	p.R1673Q			Q9UPX8	SHAN2_HUMAN	LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)		33	5017	-			1293					C0SPG8|C0SPG9|Q3Y8G9|Q52LK2|Q9UKP1	Missense_Mutation	SNP	ENST00000423696.2	37	c.5018G>A		.	.	.	.	.	.	.	.	.	.	C	28.5	4.929751	0.92389	.	.	ENSG00000162105	ENST00000449833;ENST00000409161;ENST00000424924;ENST00000338508;ENST00000423696;ENST00000433693;ENST00000294018	T;T;T;T;T;T	0.48201	2.13;2.13;2.86;0.82;2.26;2.26	5.91	5.91	0.95273	.	0.381500	0.29486	N	0.012014	T	0.39860	0.1094	L	0.44542	1.39	0.80722	D	1	P;P;P	0.49358	0.792;0.923;0.74	B;B;B	0.32342	0.098;0.144;0.129	T	0.45673	-0.9245	10	0.54805	T	0.06	.	20.3018	0.98617	0.0:1.0:0.0:0.0	.	1293;1672;1077	Q9UPX8;Q9UPX8-3;Q9UPX8-4	SHAN2_HUMAN;.;.	Q	1077;1076;951;1673;1293;1311;1296	ENSP00000399423:R1077Q;ENSP00000386491:R1076Q;ENSP00000402944:R951Q;ENSP00000345193:R1673Q;ENSP00000394536:R1293Q;ENSP00000294018:R1296Q	ENSP00000294018:R1296Q	R	-	2	0	SHANK2	69997157	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.445000	0.52921	2.799000	0.96334	0.650000	0.86243	CGG		0.597	SHANK2-203	KNOWN	basic	protein_coding	protein_coding		NM_012309		11	50	0	0	0	1	0	11	50					T	70319509	C	T	70319509	3	4	313	1	0	0	0	0	1	0	0	0	14265	652	23	2	538	2	SHANK2	11	70319509	Missense_Mutation	SNP	C	TCGA-KK-A6E2-01A-11D-A30X-08	63669615	70319509	64687007	24	16079											
ODZ4	26011	broad.mit.edu	37	chr11	78381219	78381219	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	atcaggggcccaatctgacgGtagcggatggtgcaggtgaa	10	7	16	8	2	2	2	1	2	1	0	2	3	2	3	1	6	2	2	1	6	3	1			TCGA-KK-A6E2-01A-11D-A30X-08	TCGA-KK-A6E2-11A-21D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de2a74cb-41dc-42b1-831b-160074fee3b9	f6ecbcaa-aa62-4d04-afab-2d9e24ff0bbb	g.chr11:78381219G>A	ENST00000278550.7	-	32	6633	c.6171C>T	c.(6169-6171)taC>taT	p.Y2057Y		NM_001098816.2	NP_001092286.2	Q6N022	TEN4_HUMAN	teneurin transmembrane protein 4	2057					cardiac cell fate specification (GO:0060912)|cardiac muscle cell proliferation (GO:0060038)|central nervous system myelin formation (GO:0032289)|gastrulation with mouth forming second (GO:0001702)|neuron development (GO:0048666)|positive regulation of gastrulation (GO:2000543)|positive regulation of myelination (GO:0031643)|positive regulation of oligodendrocyte differentiation (GO:0048714)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|nucleus (GO:0005634)	protein homodimerization activity (GO:0042803)										CAATCTGACGGTAGCGGATGG	0.532																																						ENST00000278550.7																			0											c.(6169-6171)taC>taT		teneurin transmembrane protein 4							67	79	75					11																	78381219		2105	4206	6311	SO:0001819	synonymous_variant	26011							g.chr11:78381219G>A	AB037723	CCDS44688.1	11q13	2012-10-02	2012-10-02	2012-10-02		ENSG00000149256			29945	protein-coding gene	gene with protein product		610084	"odz, odd Oz/ten-m homolog 4 (Drosophila)"	ODZ4		12000766, 10625539	Standard	NM_001098816		Approved	KIAA1302, Ten-M4	uc001ozl.4	Q6N022		ENST00000278550.7:c.6171C>T	11.37:g.78381219G>A							p.Y2057Y	NM_001098816.2	NP_001092286.2					32	6633	-								A6ND26|Q7Z3C7|Q96MS6|Q9P2P4|Q9Y4S2	Silent	SNP	ENST00000278550.7	37	c.6171C>T	CCDS44688.1																																																																																				0.532	TENM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391406.2			3	32	0	0	0	1	0	3	32					A	78381219	G	A	78381219	2	1	313	1	0	0	0	0	0	0	0	1	10837	1256	44	3		3	ODZ4	11	78381219	Silent	SNP	G	TCGA-KK-A6E2-01A-11D-A30X-08	8061710	78381219	56625297	25	16080											
KDM4DL	390245	broad.mit.edu	37	chr11	94759491	94759491	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tctcaaggaaaatgggattcCcttcaattgcatgactcagg	12	11	9	9	0	3	1	3	1	1	0	5	3	4	3	1	3	1	1	1	3	4	3			TCGA-KK-A6E2-01A-11D-A30X-08	TCGA-KK-A6E2-11A-21D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de2a74cb-41dc-42b1-831b-160074fee3b9	f6ecbcaa-aa62-4d04-afab-2d9e24ff0bbb	g.chr11:94759491C>T	ENST00000450979.2	+	1	1070	c.770C>T	c.(769-771)cCc>cTc	p.P257L		NM_001161630.1	NP_001155102.1	B2RXH2	KDM4E_HUMAN	lysine (K)-specific demethylase 4E	257	JmjC. {ECO:0000255|PROSITE- ProRule:PRU00538}.				histone H3-K9 demethylation (GO:0033169)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|metal ion binding (GO:0046872)			breast(1)|endometrium(7)|kidney(1)|lung(3)	12						AATGGGATTCCCTTCAATTGC	0.547																																						ENST00000450979.2																			0				breast(1)|endometrium(7)|kidney(1)|lung(3)	12						c.(769-771)cCc>cTc		lysine (K)-specific demethylase 4E							26	26	26					11																	94759491		692	1591	2283	SO:0001583	missense	390245				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr11:94759491C>T	BC157851	CCDS44713.1	11q21	2012-03-30	2012-03-28	2012-03-28		ENSG00000235268		"Chromatin-modifying enzymes / K-demethylases"	37098	protein-coding gene	gene with protein product			"lysine (K)-specific demethylase 4D-like"	KDM4DL		21076780	Standard	NM_001161630		Approved	JMJD2E	uc010ruf.1	B2RXH2		ENST00000450979.2:c.770C>T	11.37:g.94759491C>T	ENSP00000397239:p.Pro257Leu						p.P257L	NM_001161630.1	NP_001155102.1	B2RXH2	KD4DL_HUMAN			1	1070	+			257			JmjC.			Missense_Mutation	SNP	ENST00000450979.2	37	c.770C>T	CCDS44713.1	.	.	.	.	.	.	.	.	.	.	c	12.73	2.025958	0.35701	.	.	ENSG00000235268	ENST00000450979	T	0.74209	-0.82	2.18	2.18	0.27775	Transcription factor jumonji/aspartyl beta-hydroxylase (2);Transcription factor jumonji (1);	.	.	.	.	D	0.87014	0.6072	M	0.91300	3.195	0.58432	D	0.999993	D	0.89917	1.0	D	0.97110	1.0	D	0.88446	0.3045	9	0.87932	D	0	-21.1033	10.4356	0.44433	0.0:1.0:0.0:0.0	.	257	B2RXH2	KD4DL_HUMAN	L	257	ENSP00000397239:P257L	ENSP00000397239:P257L	P	+	2	0	KDM4DL	94399139	1.000000	0.71417	0.414000	0.26521	0.040000	0.13550	3.053000	0.49901	1.543000	0.49345	0.455000	0.32223	CCC		0.547	KDM4E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396649.1	NM_001161630		10	30	0	0	0	1	0	10	30					T	94759491	C	T	94759491	3	4	313	1	0	0	0	0	1	0	0	0	8132	623	22	3	772	3	KDM4DL	11	94759491	Missense_Mutation	SNP	C	TCGA-KK-A6E2-01A-11D-A30X-08	16378272	94759491	40247025	26	16081											
PTPRO	5800	broad.mit.edu	37	chr12	15742420	15742420	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacggacaggaacattcattGccctggacaggctcttgcag	10	8	12	11	1	2	0	1	0	1	0	2	4	2	3	1	4	3	2	1	4	1	3			TCGA-KK-A6E2-01A-11D-A30X-08	TCGA-KK-A6E2-11A-21D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de2a74cb-41dc-42b1-831b-160074fee3b9	f6ecbcaa-aa62-4d04-afab-2d9e24ff0bbb	g.chr12:15742420G>A	ENST00000281171.4	+	25	3772	c.3442G>A	c.(3442-3444)Gcc>Acc	p.A1148T	PTPRO_ENST00000442921.2_Missense_Mutation_p.A337T|PTPRO_ENST00000544244.1_Missense_Mutation_p.A309T|PTPRO_ENST00000348962.2_Missense_Mutation_p.A1120T|PTPRO_ENST00000542557.1_Missense_Mutation_p.A309T|PTPRO_ENST00000445537.2_Missense_Mutation_p.A337T	NM_030667.2	NP_109592.1	Q16827	PTPRO_HUMAN	protein tyrosine phosphatase, receptor type, O	1148	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				axon guidance (GO:0007411)|cell morphogenesis (GO:0000902)|glomerular visceral epithelial cell differentiation (GO:0072112)|glomerulus development (GO:0032835)|lamellipodium assembly (GO:0030032)|monocyte chemotaxis (GO:0002548)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of glomerular filtration (GO:0003105)|negative regulation of neuron projection development (GO:0010977)|negative regulation of retinal ganglion cell axon guidance (GO:0090260)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of glomerular filtration (GO:0003093)|slit diaphragm assembly (GO:0036060)	apical plasma membrane (GO:0016324)|axon (GO:0030424)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	phosphatase activity (GO:0016791)|protein homodimerization activity (GO:0042803)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)|Wnt-protein binding (GO:0017147)			NS(2)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(11)|lung(30)|ovary(2)|prostate(1)|skin(17)|upper_aerodigestive_tract(1)	74		Hepatocellular(102;0.244)				AACATTCATTGCCCTGGACAG	0.468																																						ENST00000281171.4																			0				NS(2)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(11)|lung(30)|ovary(2)|prostate(1)|skin(17)|upper_aerodigestive_tract(1)	74						c.(3442-3444)Gcc>Acc		protein tyrosine phosphatase, receptor type, O							207	187	194					12																	15742420		2203	4300	6503	SO:0001583	missense	5800					integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr12:15742420G>A	U20489	CCDS8674.1, CCDS8675.1, CCDS44837.1, CCDS53754.1	12p13-p12	2013-02-11			ENSG00000151490	ENSG00000151490		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Fibronectin type III domain containing"	9678	protein-coding gene	gene with protein product	"osteoclastic transmembrane protein-tyrosine phosphatase"	600579				7519601, 7665166, 21722858	Standard	NM_030667		Approved	PTPU2, GLEPP1, PTP-U2, PTP-oc, NPHS6	uc001rcv.2	Q16827	OTTHUMG00000168786	ENST00000281171.4:c.3442G>A	12.37:g.15742420G>A	ENSP00000281171:p.Ala1148Thr					PTPRO_ENST00000348962.2_Missense_Mutation_p.A1120T|PTPRO_ENST00000542557.1_Missense_Mutation_p.A309T|PTPRO_ENST00000445537.2_Missense_Mutation_p.A337T|PTPRO_ENST00000544244.1_Missense_Mutation_p.A309T|PTPRO_ENST00000442921.2_Missense_Mutation_p.A337T	p.A1148T	NM_030667.2	NP_109592.1	Q16827	PTPRO_HUMAN			25	3772	+		Hepatocellular(102;0.244)	1148			Tyrosine-protein phosphatase.		A0AV39|Q13101|Q8IYG3|Q9UBF0|Q9UBT5	Missense_Mutation	SNP	ENST00000281171.4	37	c.3442G>A	CCDS8675.1	.	.	.	.	.	.	.	.	.	.	G	28.6	4.934626	0.92458	.	.	ENSG00000151490	ENST00000281171;ENST00000348962;ENST00000442921;ENST00000542557;ENST00000445537;ENST00000544244	T;T;T;T;T;T	0.15372	2.43;2.43;2.43;2.43;2.43;2.43	5.1	4.21	0.49690	Protein-tyrosine phosphatase, receptor/non-receptor type (4);Protein-tyrosine/Dual-specificity phosphatase (1);	0.000000	0.49305	D	0.000146	T	0.26629	0.0651	L	0.52364	1.645	0.58432	D	0.999999	B;D;D	0.63046	0.232;0.99;0.992	B;P;P	0.57283	0.143;0.721;0.817	T	0.03969	-1.0988	10	0.12103	T	0.63	.	13.5246	0.61586	0.0747:0.0:0.9253:0.0	.	309;1120;1148	Q9UBT5;Q16827-2;Q16827	.;.;PTPRO_HUMAN	T	1148;1120;337;309;337;309	ENSP00000281171:A1148T;ENSP00000343434:A1120T;ENSP00000404188:A337T;ENSP00000437571:A309T;ENSP00000393449:A337T;ENSP00000439234:A309T	ENSP00000281171:A1148T	A	+	1	0	PTPRO	15633687	1.000000	0.71417	0.953000	0.39169	0.954000	0.61252	7.652000	0.83633	1.383000	0.46405	0.561000	0.74099	GCC		0.468	PTPRO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401079.1			47	105	0	0	0	1	0	47	105					A	15742420	G	A	15742420	3	1	313	1	0	0	0	0	1	0	0	0	12809	1319	46	3	3540	3	PTPRO	12	15742420	Missense_Mutation	SNP	G	TCGA-KK-A6E2-01A-11D-A30X-08		15742420	118109475	27	16082											
PAN2	9924	broad.mit.edu	37	chr12	56722258	56722258	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	agctgagaagccacttacagGtaatcaaatataatgaggcc	16	8	9	8	0	1	2	1	2	0	1	1	3	1	2	2	2	3	2	2	2	6	4			TCGA-KK-A6E2-01A-11D-A30X-08	TCGA-KK-A6E2-11A-21D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de2a74cb-41dc-42b1-831b-160074fee3b9	f6ecbcaa-aa62-4d04-afab-2d9e24ff0bbb	g.chr12:56722258G>A	ENST00000425394.2	-	3	826	c.450C>T	c.(448-450)taC>taT	p.Y150Y	PAN2_ENST00000440411.3_Silent_p.Y150Y|PAN2_ENST00000548043.1_Silent_p.Y150Y|PAN2_ENST00000257931.5_Silent_p.Y150Y	NM_001127460.2	NP_001120932	Q9HBH5	RDH14_HUMAN	PAN2 poly(A) specific ribonuclease subunit	0					osteoblast differentiation (GO:0001649)	endoplasmic reticulum (GO:0005783)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	oxidoreductase activity (GO:0016491)			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	41					Vitamin A(DB00162)	CCACTTACAGGTAATCAAATA	0.502																																						ENST00000425394.2																			0				NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						c.(448-450)taC>taT		PAN2 poly(A) specific ribonuclease subunit homolog (S. cerevisiae)							97	100	99					12																	56722258		2203	4300	6503	SO:0001819	synonymous_variant	9924				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|ubiquitin-dependent protein catabolic process	cytosol|nucleus	nucleic acid binding|poly(A)-specific ribonuclease activity|ubiquitin thiolesterase activity	g.chr12:56722258G>A	AB014610	CCDS8915.1, CCDS44922.1, CCDS53802.1	12q13.2	2014-03-27	2014-03-27	2008-01-08		ENSG00000135473		"Ubiquitin-specific peptidases"	20074	protein-coding gene	gene with protein product	"PAN2 homolog, PABP1 dependent poly A specific ribonuclease subunit (S. cerevisiae)"		"ubiquitin specific protease 52", "ubiquitin specific peptidase 52", "PAN2 poly(A) specific ribonuclease subunit homolog (S. cerevisiae)"	USP52		12838346, 14583602	Standard	NM_014871		Approved	KIAA0710, hPAN2	uc001skx.3	Q504Q3	OTTHUMG00000170412	ENST00000425394.2:c.450C>T	12.37:g.56722258G>A						PAN2_ENST00000257931.5_Silent_p.Y150Y|PAN2_ENST00000440411.3_Silent_p.Y150Y|PAN2_ENST00000548043.1_Silent_p.Y150Y	p.Y150Y	NM_001127460.2	NP_001120932.1	Q504Q3	PAN2_HUMAN			3	826	-			150						Silent	SNP	ENST00000425394.2	37	c.450C>T	CCDS44922.1																																																																																				0.502	PAN2-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000409024.1	NM_014871		4	155	0	0	0	1	0	4	155					A	56722258	G	A	56722258	2	1	313	1	0	0	0	0	0	0	0	1	11414	1256	44	3		3	PAN2	12	56722258	Silent	SNP	G	TCGA-KK-A6E2-01A-11D-A30X-08	40979838	56722258	77129637	28	16083											
NACA	4666	broad.mit.edu	37	chr12	57111547	57111547	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cccctttggggggtggggtaGctgggcctccttttggggag	2	11	19	9	0	0	0	0	0	0	0	1	1	1	1	4	8	1	2	4	8	1	4			TCGA-KK-A6E2-01A-11D-A30X-08	TCGA-KK-A6E2-11A-21D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de2a74cb-41dc-42b1-831b-160074fee3b9	f6ecbcaa-aa62-4d04-afab-2d9e24ff0bbb	g.chr12:57111547G>C	ENST00000454682.1	-	3	4048	c.3767C>G	c.(3766-3768)gCt>gGt	p.A1256G	NACA_ENST00000551793.1_Intron|NACA_ENST00000550952.1_Intron|NACA_ENST00000393891.4_Intron|NACA_ENST00000552540.1_Intron|NACA_ENST00000548563.1_Intron|NACA_ENST00000546392.1_Intron|NACA_ENST00000356769.3_Intron	NM_001113203.2	NP_001106674.2	E9PAV3	NACAM_HUMAN	nascent polypeptide-associated complex alpha subunit	1256	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						GGGTGGGGTAGCTGGGCCTCC	0.657			T	BCL6	NHL																																	ENST00000454682.1				Dom	yes		12	12q23-q24.1	4666	T	nascent-polypeptide-associated complex alpha polypeptide			L	BCL6		NHL		0				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						c.(3766-3768)gCt>gGt		nascent polypeptide-associated complex alpha subunit							43	64	58					12																	57111547		1209	2832	4041	SO:0001583	missense	4666				interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation	nascent polypeptide-associated complex|nucleus	DNA binding	g.chr12:57111547G>C	X80909	CCDS31837.1, CCDS44925.1, CCDS44925.2	12q23-q24.1	2008-09-05	2007-04-20		ENSG00000196531	ENSG00000196531			7629	protein-coding gene	gene with protein product		601234	"nascent-polypeptide-associated complex alpha polypeptide"			8047162	Standard	NM_001113202		Approved	NACA1	uc001sma.2	E9PAV3		ENST00000454682.1:c.3767C>G	12.37:g.57111547G>C	ENSP00000403817:p.Ala1256Gly					NACA_ENST00000552540.1_Intron|NACA_ENST00000548563.1_Intron|NACA_ENST00000393891.4_Intron|NACA_ENST00000551793.1_Intron|NACA_ENST00000550952.1_Intron|NACA_ENST00000546392.1_Intron|NACA_ENST00000356769.3_Intron	p.A1256G	NM_001113203.2	NP_001106674.2	Q13765	NACA_HUMAN			3	4048	-			0						Missense_Mutation	SNP	ENST00000454682.1	37	c.3767C>G		.	.	.	.	.	.	.	.	.	.	G	9.788	1.177153	0.21787	.	.	ENSG00000196531	ENST00000454682	T	0.52754	0.65	4.25	2.31	0.28768	.	.	.	.	.	T	0.30386	0.0763	.	.	.	0.09310	N	0.999992	B	0.24483	0.104	B	0.22152	0.038	T	0.20438	-1.0275	7	.	.	.	.	8.0227	0.30419	0.0:0.1674:0.6459:0.1867	.	1256	E9PAV3	.	G	1256	ENSP00000403817:A1256G	.	A	-	2	0	NACA	55397814	0.024000	0.19004	0.007000	0.13788	0.019000	0.09904	0.560000	0.23500	0.209000	0.20645	0.298000	0.19748	GCT		0.657	NACA-201	KNOWN	basic	protein_coding	protein_coding		NM_005594		5	78	0	0	0	1	0	5	78					C	57111547	G	C	57111547	3	2	313	1	0	0	0	0	1	0	0	0	10133	971	34	5	2497	5	NACA	12	57111547	Missense_Mutation	SNP	G	TCGA-KK-A6E2-01A-11D-A30X-08	389289	57111547	76740348	29	16084											
CNOT2	4848	broad.mit.edu	37	chr12	70735908	70735908	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatctctaccccaaatttgcGtcaccctgggcatcttcacc	9	11	5	16	1	4	0	2	0	2	0	5	0	4	0	4	1	2	1	4	1	3	3			TCGA-KK-A6E2-01A-11D-A30X-08	TCGA-KK-A6E2-11A-21D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de2a74cb-41dc-42b1-831b-160074fee3b9	f6ecbcaa-aa62-4d04-afab-2d9e24ff0bbb	g.chr12:70735908G>T	ENST00000418359.3	+	13	1651	c.1200G>T	c.(1198-1200)gcG>gcT	p.A400A	CNOT2_ENST00000229195.3_Silent_p.A400A|CNOT2_ENST00000551483.1_Silent_p.A51A	NM_001199302.1	NP_001186231.1	Q9NZN8	CNOT2_HUMAN	CCR4-NOT transcription complex, subunit 2	400					gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of cytoplasmic mRNA processing body assembly (GO:0010606)|regulation of stem cell maintenance (GO:2000036)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|transcription from RNA polymerase II promoter (GO:0006366)|trophectodermal cell differentiation (GO:0001829)	CCR4-NOT complex (GO:0030014)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	RNA polymerase II transcription cofactor activity (GO:0001104)|RNA polymerase II transcription corepressor binding (GO:0001226)			cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|pancreas(2)|urinary_tract(1)	20	Renal(347;0.236)		GBM - Glioblastoma multiforme(1;4.77e-09)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00243)|STAD - Stomach adenocarcinoma(21;0.0118)			CCAAATTTGCGTCACCCTGGG	0.338																																						ENST00000551483.1																			0				cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|pancreas(2)|urinary_tract(1)	20						c.(151-153)gcG>gcT		CCR4-NOT transcription complex, subunit 2							129	128	129					12																	70735908		2203	4300	6503	SO:0001819	synonymous_variant	4848				nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	protein binding|RNA polymerase II transcription cofactor activity	g.chr12:70735908G>T	AF180473	CCDS31857.1	12q15	2008-05-14				ENSG00000111596			7878	protein-coding gene	gene with protein product		604909		NOT2		10637334	Standard	NM_014515		Approved	CDC36, NOT2H	uc001svv.3	Q9NZN8		ENST00000418359.3:c.1200G>T	12.37:g.70735908G>T						CNOT2_ENST00000229195.3_Silent_p.A400A|CNOT2_ENST00000418359.3_Silent_p.A400A	p.A51A			Q9NZN8	CNOT2_HUMAN	GBM - Glioblastoma multiforme(1;4.77e-09)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00243)|STAD - Stomach adenocarcinoma(21;0.0118)		3	4308	+	Renal(347;0.236)		400					Q9H3E0|Q9NSX5|Q9NWR6|Q9P028	Silent	SNP	ENST00000418359.3	37	c.153G>T	CCDS31857.1	.	.	.	.	.	.	.	.	.	.	G	9.471	1.095744	0.20552	.	.	ENSG00000111596	ENST00000552599;ENST00000548338	.	.	.	5.79	3.42	0.39159	.	.	.	.	.	T	0.57755	0.2075	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.50709	-0.8796	4	.	.	.	-1.1205	7.8887	0.29665	0.7627:0.0:0.2373:0.0	.	.	.	.	F	111;27	.	.	V	+	1	0	CNOT2	69022175	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	1.996000	0.40776	0.456000	0.26937	-0.247000	0.11927	GTC		0.338	CNOT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404260.1			4	102	1	0	1.23904e-05	1	1.34375e-05	4	102					T	70735908	G	T	70735908	2	4	313	1	0	0	0	0	0	0	0	1	3619	1132	40	5		5	CNOT2	12	70735908	Silent	SNP	G	TCGA-KK-A6E2-01A-11D-A30X-08	13624361	70735908	63115987	30	16085											
POLR3B	55703	broad.mit.edu	37	chr12	106838328	106838328	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cctcaccataaccagtcaccGagaaacacttatcagtgtgc	13	8	6	14	1	3	1	3	0	0	1	3	2	3	1	4	0	3	0	4	0	3	2	rs372517855		TCGA-KK-A6E2-01A-11D-A30X-08	TCGA-KK-A6E2-11A-21D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de2a74cb-41dc-42b1-831b-160074fee3b9	f6ecbcaa-aa62-4d04-afab-2d9e24ff0bbb	g.chr12:106838328G>A	ENST00000228347.4	+	19	2265	c.2043G>A	c.(2041-2043)ccG>ccA	p.P681P	POLR3B_ENST00000539066.1_Silent_p.P623P	NM_018082.5	NP_060552.4	Q9NW08	RPC2_HUMAN	polymerase (RNA) III (DNA directed) polypeptide B	681					defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|positive regulation of innate immune response (GO:0045089)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of type I interferon production (GO:0032481)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase III promoter (GO:0006383)	cytosol (GO:0005829)|DNA-directed RNA polymerase III complex (GO:0005666)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|metal ion binding (GO:0046872)|ribonucleoside binding (GO:0032549)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(22)|ovary(1)|prostate(3)|skin(3)|urinary_tract(2)	57						ACCAGTCACCGAGAAACACTT	0.443																																						ENST00000228347.4																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(22)|ovary(1)|prostate(3)|skin(3)|urinary_tract(2)	57						c.(2041-2043)ccG>ccA		polymerase (RNA) III (DNA directed) polypeptide B		G	,	1,4405	2.1+/-5.4	0,1,2202	147	117	127		1869,2043	-0.4	1	12		127	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	POLR3B	NM_001160708.1,NM_018082.5	,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,	623/1076,681/1134	106838328	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	55703				innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|ribonucleoside binding	g.chr12:106838328G>A	AY092084	CCDS9105.1, CCDS53824.1	12q23.3	2014-08-12			ENSG00000013503	ENSG00000013503		"RNA polymerase subunits"	30348	protein-coding gene	gene with protein product		614366				12391170	Standard	NM_018082		Approved	RPC2, FLJ10388	uc001tlp.3	Q9NW08	OTTHUMG00000170077	ENST00000228347.4:c.2043G>A	12.37:g.106838328G>A						POLR3B_ENST00000539066.1_Silent_p.P623P	p.P681P	NM_018082.5	NP_060552.4	Q9NW08	RPC2_HUMAN			19	2265	+			681					A8K6H0|B3KV73|F5H1E6|Q9NW59	Silent	SNP	ENST00000228347.4	37	c.2043G>A	CCDS9105.1																																																																																				0.443	POLR3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407166.1	NM_018082		13	29	0	0	0	1	0	13	29					A	106838328	G	A	106838328	2	1	313	1	0	0	0	0	0	0	0	1	12229	1045	37	2		2	POLR3B	12	106838328	Silent	SNP	G	TCGA-KK-A6E2-01A-11D-A30X-08	36102420	106838328	27013567	31	16086											
CENPJ	55835	broad.mit.edu	37	chr13	25466996	25466996	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccgtaaatctgctatttgctGttttaaagtctctcaaaaaa	13	15	5	8	1	3	0	1	0	2	0	4	0	3	0	1	0	2	4	1	0	8	5	rs200583239		TCGA-KK-A6E2-01A-11D-A30X-08	TCGA-KK-A6E2-11A-21D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de2a74cb-41dc-42b1-831b-160074fee3b9	f6ecbcaa-aa62-4d04-afab-2d9e24ff0bbb	g.chr13:25466996G>T	ENST00000381884.4	-	10	3186	c.3001C>A	c.(3001-3003)Cag>Aag	p.Q1001K	CENPJ_ENST00000545981.1_Missense_Mutation_p.Q1001K	NM_018451.4	NP_060921.3	Q9HC77	CENPJ_HUMAN	centromere protein J	1001					cell division (GO:0051301)|centriole replication (GO:0007099)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|microtubule polymerization (GO:0046785)|mitotic cell cycle (GO:0000278)|regulation of centriole replication (GO:0046599)	centriole (GO:0005814)|centrosome (GO:0005813)|cytosol (GO:0005829)|gamma-tubulin small complex (GO:0008275)|microtubule (GO:0005874)	protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)|tubulin binding (GO:0015631)			endometrium(5)|kidney(4)|large_intestine(14)|lung(13)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.00793)|Epithelial(112;0.0411)|OV - Ovarian serous cystadenocarcinoma(117;0.139)		GCTATTTGCTGTTTTAAAGTC	0.333																																						ENST00000381884.4																			0				endometrium(5)|kidney(4)|large_intestine(14)|lung(13)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						c.(3001-3003)Cag>Aag		centromere protein J							105	101	103					13																	25466996		2203	4300	6503	SO:0001583	missense	55835				cell division|centriole replication|G2/M transition of mitotic cell cycle|microtubule nucleation|microtubule polymerization	centriole|cytosol|gamma-tubulin small complex|microtubule	protein domain specific binding|tubulin binding	g.chr13:25466996G>T	AF139625	CCDS9310.1	13q12.12	2013-11-05			ENSG00000151849	ENSG00000151849			17272	protein-coding gene	gene with protein product	"centrosomal P4.1-associated protein"	609279	"microcephaly, primary autosomal recessive 6"	MCPH6		11003675, 22699936	Standard	NM_018451		Approved	CPAP, BM032, LAP, LIP1, Sas-4, SASS4, SCKL4	uc001upt.5	Q9HC77	OTTHUMG00000016595	ENST00000381884.4:c.3001C>A	13.37:g.25466996G>T	ENSP00000371308:p.Gln1001Lys					CENPJ_ENST00000545981.1_Missense_Mutation_p.Q1001K	p.Q1001K	NM_018451.4	NP_060921.3	Q9HC77	CENPJ_HUMAN		all cancers(112;0.00793)|Epithelial(112;0.0411)|OV - Ovarian serous cystadenocarcinoma(117;0.139)	10	3186	-		Lung SC(185;0.0225)|Breast(139;0.0602)	1001					Q2KHM6|Q5JPD5|Q5T6R5|Q96KS5|Q9C067	Missense_Mutation	SNP	ENST00000381884.4	37	c.3001C>A	CCDS9310.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.82|15.82	2.946412|2.946412	0.53079|0.53079	.|.	.|.	ENSG00000151849|ENSG00000151849	ENST00000381884;ENST00000545981;ENST00000445729|ENST00000418179	T;T|.	0.37235|.	1.21;1.75|.	5.22|5.22	5.22|5.22	0.72569|0.72569	.|.	0.176589|.	0.51477|.	D|.	0.000086|.	T|T	0.68229|0.68229	0.2978|0.2978	L|L	0.45581|0.45581	1.43|1.43	0.52501|0.52501	D|D	0.999954|0.999954	B;B|.	0.13594|.	0.008;0.001|.	B;B|.	0.15484|.	0.013;0.002|.	T|T	0.64385|0.64385	-0.6420|-0.6420	10|5	0.19590|.	T|.	0.45|.	.|.	17.9193|17.9193	0.88961|0.88961	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	82;1001|.	Q5T6R6;Q9HC77|.	.;CENPJ_HUMAN|.	K|K	1001|82	ENSP00000371308:Q1001K;ENSP00000441090:Q1001K|.	ENSP00000371308:Q1001K|.	Q|T	-|-	1|2	0|0	CENPJ|CENPJ	24364996|24364996	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.989000|0.989000	0.77384|0.77384	5.874000|5.874000	0.69652|0.69652	2.606000|2.606000	0.88127|0.88127	0.555000|0.555000	0.69702|0.69702	CAG|ACA		0.333	CENPJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044209.1	NM_018451		7	56	1	0	0.248553	1	0.248553	7	56					T	25466996	G	T	25466996	3	4	313	1	0	0	0	0	1	0	0	0	3234	1386	48	5	1047	5	CENPJ	13	25466996	Missense_Mutation	SNP	G	TCGA-KK-A6E2-01A-11D-A30X-08		25466996	89702882	32	16087											
RNASE7	84659	broad.mit.edu	37	chr14	21511516	21511516	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gcatccgaactgcaggtacaAagagaagcgacagaacaagt	17	4	11	9	2	0	2	0	0	0	2	1	5	1	2	1	1	5	3	1	1	6	1			TCGA-KK-A6E2-01A-11D-A30X-08	TCGA-KK-A6E2-11A-21D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de2a74cb-41dc-42b1-831b-160074fee3b9	f6ecbcaa-aa62-4d04-afab-2d9e24ff0bbb	g.chr14:21511516A>G	ENST00000298690.4	+	2	622	c.365A>G	c.(364-366)aAa>aGa	p.K122R	NDRG2_ENST00000403829.3_Intron	NM_032572.3	NP_115961	Q9H1E1	RNAS7_HUMAN	ribonuclease, RNase A family, 7	122					antibacterial humoral response (GO:0019731)|defense response to Gram-negative bacterium (GO:0050829)|defense response to Gram-positive bacterium (GO:0050830)|innate immune response (GO:0045087)|membrane disruption in other organism (GO:0051673)|response to bacterium (GO:0009617)|RNA phosphodiester bond hydrolysis (GO:0090501)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	endonuclease activity (GO:0004519)|lipopolysaccharide binding (GO:0001530)|nucleic acid binding (GO:0003676)|peptidoglycan binding (GO:0042834)|ribonuclease activity (GO:0004540)			endometrium(2)|large_intestine(2)|lung(1)|ovary(1)	6	all_cancers(95;0.000759)		OV - Ovarian serous cystadenocarcinoma(11;3.42e-11)|Epithelial(56;5.57e-09)|all cancers(55;2.36e-08)	GBM - Glioblastoma multiforme(265;0.0191)		TGCAGGTACAAAGAGAAGCGA	0.532																																						ENST00000298690.4																			0				endometrium(2)|large_intestine(2)|lung(1)|ovary(1)	6						c.(364-366)aAa>aGa		ribonuclease, RNase A family, 7							133	128	130					14																	21511516		2203	4300	6503	SO:0001583	missense	84659				defense response to bacterium|innate immune response	extracellular region	nucleic acid binding|pancreatic ribonuclease activity	g.chr14:21511516A>G	AJ131212	CCDS41914.1	14q11.1	2013-02-15			ENSG00000165799	ENSG00000165799		"Ribonucleases, RNase A"	19278	protein-coding gene	gene with protein product		612484				12244054, 12527768	Standard	NM_032572		Approved		uc001vzk.4	Q9H1E1	OTTHUMG00000171358	ENST00000298690.4:c.365A>G	14.37:g.21511516A>G	ENSP00000298690:p.Lys122Arg					NDRG2_ENST00000403829.3_Intron	p.K122R	NM_032572.3	NP_115961.2	Q9H1E1	RNAS7_HUMAN	OV - Ovarian serous cystadenocarcinoma(11;3.42e-11)|Epithelial(56;5.57e-09)|all cancers(55;2.36e-08)	GBM - Glioblastoma multiforme(265;0.0191)	2	622	+	all_cancers(95;0.000759)		122					P80927|P83685|Q546N3	Missense_Mutation	SNP	ENST00000298690.4	37	c.365A>G	CCDS41914.1	.	.	.	.	.	.	.	.	.	.	A	10.66	1.412776	0.25465	.	.	ENSG00000165799	ENST00000298690	T	0.73047	-0.71	4.64	2.14	0.27477	Ribonuclease A, domain (4);	0.837778	0.10181	U	0.705816	T	0.61924	0.2386	N	0.20530	0.585	0.09310	N	1	B	0.31910	0.346	P	0.46320	0.512	T	0.56220	-0.8015	10	0.27082	T	0.32	-5.5454	4.6653	0.12662	0.7031:0.1941:0.1028:0.0	.	122	Q9H1E1	RNAS7_HUMAN	R	122	ENSP00000298690:K122R	ENSP00000298690:K122R	K	+	2	0	RNASE7	20581356	0.885000	0.30320	0.730000	0.30809	0.614000	0.37383	0.468000	0.22051	0.772000	0.33382	0.533000	0.62120	AAA		0.532	RNASE7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313936.1	NM_032572		15	134	0	0	0	1	0	15	134					G	21511516	A	G	21511516	3	3	313	1	0	0	0	0	1	0	0	0	13408	14	1	4	367	4	RNASE7	14	21511516	Missense_Mutation	SNP	A	TCGA-KK-A6E2-01A-11D-A30X-08		21511516	85838024	33	16088											
TMEM63C	57156	broad.mit.edu	37	chr14	77718143	77718143	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcggcaggttctctccacGccatcaccatcttttccctg	5	12	6	18	2	3	0	1	0	2	0	7	0	5	0	5	2	0	2	5	2	0	3			TCGA-KK-A6E2-01A-11D-A30X-08	TCGA-KK-A6E2-11A-21D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de2a74cb-41dc-42b1-831b-160074fee3b9	f6ecbcaa-aa62-4d04-afab-2d9e24ff0bbb	g.chr14:77718143G>A	ENST00000298351.4	+	22	2194	c.2050G>A	c.(2050-2052)Gcc>Acc	p.A684T		NM_020431.2	NP_065164.2	Q9P1W3	CSC1_HUMAN	transmembrane protein 63C	684					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)	integral component of membrane (GO:0016021)	calcium activated cation channel activity (GO:0005227)			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(1)	23			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0342)		TTCTCTCCACGCCATCACCAT	0.567																																						ENST00000298351.4																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(1)	23						c.(2050-2052)Gcc>Acc		transmembrane protein 63C							117	120	119					14																	77718143		2106	4220	6326	SO:0001583	missense	57156					integral to membrane		g.chr14:77718143G>A		CCDS45141.1	14q24.3	2014-05-30	2005-07-25	2005-07-25	ENSG00000165548	ENSG00000165548			23787	protein-coding gene	gene with protein product	"calcium permeable stress-gated cation channel 1 homolog (Arabidopsis)"		"chromosome 14 open reading frame 171"	C14orf171		24503647	Standard	NM_020431		Approved	DKFZp434P0111, CSC1, hsCSC1	uc001xtf.2	Q9P1W3	OTTHUMG00000171557	ENST00000298351.4:c.2050G>A	14.37:g.77718143G>A	ENSP00000298351:p.Ala684Thr						p.A684T	NM_020431.2	NP_065164.2	Q9P1W3	TM63C_HUMAN	Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0342)	22	2194	+			684					B2RN22|B3KWJ5|Q86TS3|Q86TS4|Q9NSQ4|Q9P1W1	Missense_Mutation	SNP	ENST00000298351.4	37	c.2050G>A	CCDS45141.1	.	.	.	.	.	.	.	.	.	.	G	13.14	2.147599	0.37923	.	.	ENSG00000165548	ENST00000298351;ENST00000536110	T	0.19532	2.14	5.38	-3.32	0.04973	.	0.749963	0.13892	N	0.355556	T	0.08758	0.0217	N	0.16478	0.41	0.09310	N	1	B	0.16166	0.016	B	0.06405	0.002	T	0.40553	-0.9557	10	0.10111	T	0.7	-1.4259	7.6199	0.28179	0.3539:0.3792:0.2669:0.0	.	684	Q9P1W3	TM63C_HUMAN	T	684;254	ENSP00000298351:A684T	ENSP00000298351:A684T	A	+	1	0	TMEM63C	76787896	0.002000	0.14202	0.001000	0.08648	0.003000	0.03518	0.137000	0.15995	-0.495000	0.06659	-1.195000	0.01675	GCC		0.567	TMEM63C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414193.1			29	90	0	0	0	1	0	29	90					A	77718143	G	A	77718143	3	1	313	1	0	0	0	0	1	0	0	0	16189	1087	38	1	2128	1	TMEM63C	14	77718143	Missense_Mutation	SNP	G	TCGA-KK-A6E2-01A-11D-A30X-08	56206627	77718143	29631397	34	16089											
OIP5	11339	broad.mit.edu	37	chr15	41624630	41624630	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gagcggcgaggaccccttcaCcacctgcgtatcccactcca	8	6	9	18	3	1	0	1	0	0	0	3	3	3	1	6	2	2	1	6	2	1	2			TCGA-KK-A6E2-01A-11D-A30X-08	TCGA-KK-A6E2-11A-21D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de2a74cb-41dc-42b1-831b-160074fee3b9	f6ecbcaa-aa62-4d04-afab-2d9e24ff0bbb	g.chr15:41624630C>T	ENST00000220514.3	-	1	189	c.130G>A	c.(130-132)Gtg>Atg	p.V44M	NUSAP1_ENST00000560177.1_5'Flank|NUSAP1_ENST00000450318.1_5'Flank|NUSAP1_ENST00000559596.1_5'Flank|NUSAP1_ENST00000414849.2_5'Flank|NUSAP1_ENST00000560747.1_5'Flank|NUSAP1_ENST00000260359.6_5'Flank|NUSAP1_ENST00000450592.2_5'Flank	NM_007280.1	NP_009211.1	O43482	MS18B_HUMAN	Opa interacting protein 5	44					cell communication (GO:0007154)|CENP-A containing nucleosome assembly (GO:0034080)|mitotic nuclear division (GO:0007067)|nucleosome assembly (GO:0006334)	Cajal body (GO:0015030)|chromatin (GO:0000785)|chromocenter (GO:0010369)|chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				endometrium(3)|lung(1)|urinary_tract(1)	5		all_cancers(109;4.16e-14)|all_epithelial(112;7.09e-12)|Lung NSC(122;1.14e-09)|all_lung(180;2.56e-08)|Melanoma(134;0.091)|Colorectal(260;0.175)		OV - Ovarian serous cystadenocarcinoma(18;1.49e-16)|GBM - Glioblastoma multiforme(113;1.29e-06)|BRCA - Breast invasive adenocarcinoma(123;0.163)		GACCCCTTCACCACCTGCGTA	0.672																																						ENST00000220514.3																			0				endometrium(3)|lung(1)|urinary_tract(1)	5						c.(130-132)Gtg>Atg		Opa interacting protein 5							61	73	69					15																	41624630		2203	4298	6501	SO:0001583	missense	11339				cell communication|cell division|CenH3-containing nucleosome assembly at centromere|mitosis	Cajal body|chromatin|chromosome, centromeric region	protein binding	g.chr15:41624630C>T	AF025441	CCDS10074.1	15q14	2011-02-23			ENSG00000104147	ENSG00000104147			20300	protein-coding gene	gene with protein product	"MIS18 kinetochore protein homolog B (S. pombe)", "cancer/testis antigen 86"	606020				9466265, 17199038	Standard	NM_007280		Approved	MIS18B, hMIS18beta, CT86	uc001znp.3	O43482	OTTHUMG00000130251	ENST00000220514.3:c.130G>A	15.37:g.41624630C>T	ENSP00000220514:p.Val44Met						p.V44M	NM_007280.1	NP_009211.1	O43482	MS18B_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;1.49e-16)|GBM - Glioblastoma multiforme(113;1.29e-06)|BRCA - Breast invasive adenocarcinoma(123;0.163)	1	189	-		all_cancers(109;4.16e-14)|all_epithelial(112;7.09e-12)|Lung NSC(122;1.14e-09)|all_lung(180;2.56e-08)|Melanoma(134;0.091)|Colorectal(260;0.175)	44					Q96BX7	Missense_Mutation	SNP	ENST00000220514.3	37	c.130G>A	CCDS10074.1	.	.	.	.	.	.	.	.	.	.	C	17.14	3.312274	0.60414	.	.	ENSG00000104147	ENST00000220514	.	.	.	5.49	4.58	0.56647	.	0.335009	0.25194	N	0.032431	T	0.55273	0.1910	M	0.68317	2.08	0.30649	N	0.755662	D	0.56035	0.974	P	0.51135	0.66	T	0.63413	-0.6643	9	0.72032	D	0.01	-29.3754	11.5584	0.50761	0.0:0.9172:0.0:0.0828	.	44	O43482	MS18B_HUMAN	M	44	.	ENSP00000220514:V44M	V	-	1	0	OIP5	39411922	1.000000	0.71417	1.000000	0.80357	0.177000	0.22998	2.626000	0.46460	1.569000	0.49696	0.655000	0.94253	GTG		0.672	OIP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252576.2	NM_007280		5	142	0	0	0	1	0	5	142					T	41624630	C	T	41624630	3	4	313	1	0	0	0	0	1	0	0	0	10848	507	18	3	579	3	OIP5	15	41624630	Missense_Mutation	SNP	C	TCGA-KK-A6E2-01A-11D-A30X-08		41624630	60906762	35	16090											
PIGB	9488	broad.mit.edu	37	chr15	55631517	55631517	+	Splice_Site	DEL	G	G	-																															atcgtattttttttggccaaGtaagtaaaagtatattaagc																										TCGA-KK-A6E2-01A-11D-A30X-08	TCGA-KK-A6E2-11A-21D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de2a74cb-41dc-42b1-831b-160074fee3b9	f6ecbcaa-aa62-4d04-afab-2d9e24ff0bbb	g.chr15:55631517delG	ENST00000164305.5	+	7	1137		c.e7+1		PIGB_ENST00000539642.1_Splice_Site|CCPG1_ENST00000563294.1_5'Flank	NM_004855.4	NP_004846.4	Q92521	PIGB_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class B						C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|GPI anchor biosynthetic process (GO:0006506)|mannosylation (GO:0097502)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	mannosyltransferase activity (GO:0000030)			endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	11				all cancers(107;0.0255)		TTTTGGCCAAGTAAGTAAAAG	0.284																																						ENST00000164305.5																			0				endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	11						c.e7+1		phosphatidylinositol glycan anchor biosynthesis, class B							125	100	108					15																	55631517		1778	4027	5805	SO:0001630	splice_region_variant	9488				C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	integral to membrane|intrinsic to endoplasmic reticulum membrane	glycolipid mannosyltransferase activity	g.chr15:55631517delG	D42138	CCDS61641.1	15q21.3	2013-02-26	2006-06-28		ENSG00000069943	ENSG00000069943		"Dolichyl D-mannosyl phosphate dependent mannosyltransferases", "Phosphatidylinositol glycan anchor biosynthesis"	8959	protein-coding gene	gene with protein product	"GPI mannosyltransferase 3", "dol-P-Man dependent GPI mannosyltransferase"	604122	"phosphatidylinositol glycan, class B"			8861954	Standard	NM_004855		Approved		uc002act.3	Q92521	OTTHUMG00000172654	ENST00000164305.5:c.846+1G>-	15.37:g.55631517delG						PIGB_ENST00000539642.1_Splice_Site		NM_004855.4	NP_004846.4	Q92521	PIGB_HUMAN		all cancers(107;0.0255)	7	1137	+								Q53FF9|Q8WVN7	Splice_Site	DEL	ENST00000164305.5	37																																																																																						0.284	PIGB-001	KNOWN	non_canonical_conserved|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000419687.1	NM_004855	Intron	2	4						2	4	---	---	---	---	-	55631517	G	-	55631517	8	5	313	1	0	1	0	1	0	0	1	0	11885	1043	36	0	873	0	PIGB	15	55631517	Splice_Site	DEL	G	TCGA-KK-A6E2-01A-11D-A30X-08	14006887	55631517	46899875	36	16091											
TCF12	6938	broad.mit.edu	37	chr15	57565238	57565238	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tattttctagcagtactaatGaagatgaggatttgaaccct	13	14	8	6	0	1	4	0	3	1	1	1	5	1	5	1	1	3	2	1	1	6	7			TCGA-KK-A6E2-01A-11D-A30X-08	TCGA-KK-A6E2-11A-21D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de2a74cb-41dc-42b1-831b-160074fee3b9	f6ecbcaa-aa62-4d04-afab-2d9e24ff0bbb	g.chr15:57565238G>A	ENST00000267811.5	+	18	1988	c.1684G>A	c.(1684-1686)Gaa>Aaa	p.E562K	TCF12_ENST00000537840.1_Missense_Mutation_p.E326K|TCF12_ENST00000557843.1_Missense_Mutation_p.E562K|TCF12_ENST00000559710.1_Missense_Mutation_p.E196K|TCF12_ENST00000543579.1_Missense_Mutation_p.E416K|TCF12_ENST00000333725.5_Missense_Mutation_p.E586K|TCF12_ENST00000452095.2_Missense_Mutation_p.E582K|TCF12_ENST00000343827.3_Missense_Mutation_p.E392K|TCF12_ENST00000438423.2_Missense_Mutation_p.E586K|TCF12_ENST00000559703.1_Missense_Mutation_p.E219K	NM_003205.3|NM_207038.1	NP_003196.1|NP_996921.1	Q99081	HTF4_HUMAN	transcription factor 12	562					immune response (GO:0006955)|muscle organ development (GO:0007517)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	bHLH transcription factor binding (GO:0043425)|E-box binding (GO:0070888)|enhancer binding (GO:0035326)|sequence-specific DNA binding transcription factor activity (GO:0003700)|SMAD binding (GO:0046332)|transcription factor binding (GO:0008134)		TCF12/NR4A3(2)	breast(2)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	36		Colorectal(260;0.0907)		all cancers(107;0.000313)|GBM - Glioblastoma multiforme(80;0.00878)|STAD - Stomach adenocarcinoma(283;0.239)		CAGTACTAATGAAGATGAGGA	0.388			T	TEC	extraskeletal myxoid chondrosarcoma																																	ENST00000267811.5				Dom	yes		15	15q21	6938	T	"transcription factor 12 (HTF4, helix-loop-helix transcription factors 4)"			M	TEC		extraskeletal myxoid chondrosarcoma	TCF12/NR4A3(2)	0				breast(2)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	36						c.(1684-1686)Gaa>Aaa		transcription factor 12							64	70	68					15																	57565238		2192	4292	6484	SO:0001583	missense	6938				immune response|muscle organ development|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr15:57565238G>A	BC050556	CCDS10159.1, CCDS10160.1, CCDS42042.1	15q21	2013-05-21	2008-07-31		ENSG00000140262	ENSG00000140262		"Basic helix-loop-helix proteins"	11623	protein-coding gene	gene with protein product	"helix-loop-helix transcription factor 4"	600480				1886779	Standard	NM_003205		Approved	HEB, HTF4, HsT17266, bHLHb20	uc002aeb.3	Q99081	OTTHUMG00000132047	ENST00000267811.5:c.1684G>A	15.37:g.57565238G>A	ENSP00000267811:p.Glu562Lys					TCF12_ENST00000559703.1_Missense_Mutation_p.E219K|TCF12_ENST00000559710.1_Missense_Mutation_p.E196K|TCF12_ENST00000438423.2_Missense_Mutation_p.E586K|TCF12_ENST00000452095.2_Missense_Mutation_p.E582K|TCF12_ENST00000537840.1_Missense_Mutation_p.E326K|TCF12_ENST00000557843.1_Missense_Mutation_p.E562K|TCF12_ENST00000543579.1_Missense_Mutation_p.E416K|TCF12_ENST00000333725.5_Missense_Mutation_p.E586K|TCF12_ENST00000343827.3_Missense_Mutation_p.E392K	p.E562K	NM_003205.3|NM_207038.1	NP_003196.1|NP_996921.1	Q99081	HTF4_HUMAN		all cancers(107;0.000313)|GBM - Glioblastoma multiforme(80;0.00878)|STAD - Stomach adenocarcinoma(283;0.239)	18	1988	+		Colorectal(260;0.0907)	562					Q7Z3D9|Q86TC1|Q86VM2	Missense_Mutation	SNP	ENST00000267811.5	37	c.1684G>A	CCDS10159.1	.	.	.	.	.	.	.	.	.	.	G	32	5.139172	0.94560	.	.	ENSG00000140262	ENST00000543236;ENST00000267811;ENST00000438423;ENST00000452095;ENST00000333725;ENST00000543579;ENST00000537840;ENST00000343827;ENST00000543417	T;T;T;T;T;T;T	0.24151	2.46;2.45;2.45;2.45;2.19;1.87;2.21	4.71	4.71	0.59529	.	0.000000	0.85682	D	0.000000	T	0.49864	0.1582	M	0.69463	2.115	0.80722	D	1	P;P;D;D;D;D;D;D;P;D	0.76494	0.863;0.956;0.998;0.97;0.988;0.999;0.999;0.978;0.956;0.996	P;D;D;P;P;D;D;P;P;D	0.81914	0.449;0.931;0.987;0.777;0.777;0.995;0.994;0.644;0.899;0.981	T	0.46541	-0.9184	10	0.39692	T	0.17	-23.7516	18.0066	0.89211	0.0:0.0:1.0:0.0	.	582;196;416;326;582;614;416;392;562;586	B4DGI9;B4DZP2;B4DH96;B4E1W1;E9PGY0;F5H6Z6;F5GY10;Q99081-2;Q99081;Q99081-3	.;.;.;.;.;.;.;.;HTF4_HUMAN;.	K	614;562;586;582;586;416;326;392;174	ENSP00000267811:E562K;ENSP00000388940:E586K;ENSP00000396881:E582K;ENSP00000331057:E586K;ENSP00000440017:E416K;ENSP00000444696:E326K;ENSP00000342459:E392K	ENSP00000267811:E562K	E	+	1	0	TCF12	55352530	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.683000	0.98657	2.324000	0.78689	0.650000	0.86243	GAA		0.388	TCF12-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000255069.3	NM_003205		8	18	0	0	0	1	0	8	18					A	57565238	G	A	57565238	3	1	313	1	0	0	0	0	1	0	0	0	15684	1291	45	3	1899	3	TCF12	15	57565238	Missense_Mutation	SNP	G	TCGA-KK-A6E2-01A-11D-A30X-08	1933721	57565238	44966154	37	16092											
HCN4	10021	broad.mit.edu	37	chr15	73660496	73660496	+	Frame_Shift_Del	DEL	C	C	-																															tgcggctggggtcttggcggCccccggccccctcctcctcg																										TCGA-KK-A6E2-01A-11D-A30X-08	TCGA-KK-A6E2-11A-21D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de2a74cb-41dc-42b1-831b-160074fee3b9	f6ecbcaa-aa62-4d04-afab-2d9e24ff0bbb	g.chr15:73660496delC	ENST00000261917.3	-	1	1109	c.116delG	c.(115-117)ggcfs	p.G39fs		NM_005477.2	NP_005468.1	Q9Y3Q4	HCN4_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 4	39					blood circulation (GO:0008015)|cation transport (GO:0006812)|cellular response to cAMP (GO:0071320)|cellular response to cGMP (GO:0071321)|in utero embryonic development (GO:0001701)|muscle contraction (GO:0006936)|potassium ion transmembrane transport (GO:0071805)|regulation of heart rate (GO:0002027)|regulation of membrane potential (GO:0042391)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|plasma membrane (GO:0005886)|terminal bouton (GO:0043195)	cAMP binding (GO:0030552)|cation channel activity (GO:0005261)|identical protein binding (GO:0042802)|intracellular cAMP activated cation channel activity (GO:0005222)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated sodium channel activity (GO:0005248)			NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(13)|liver(1)|lung(18)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				COAD - Colon adenocarcinoma(1;0.142)		GTCTTGGCGGCCCCCGGCCCC	0.751																																						ENST00000261917.3																			0				NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(13)|liver(1)|lung(18)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	55						c.(115-117)gcfs		hyperpolarization activated cyclic nucleotide-gated potassium channel 4							2	3	3					15																	73660496		1620	3484	5104	SO:0001589	frameshift_variant	10021				blood circulation|muscle contraction	integral to membrane	cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity	g.chr15:73660496delC	AJ132429	CCDS10248.1	15q24.1	2011-07-05			ENSG00000138622	ENSG00000138622		"Voltage-gated ion channels / Cyclic nucleotide-regulated channels"	16882	protein-coding gene	gene with protein product		605206				10228147, 10430953, 16382102	Standard	NM_005477		Approved		uc002avp.3	Q9Y3Q4	OTTHUMG00000137563	ENST00000261917.3:c.116delG	15.37:g.73660496delC	ENSP00000261917:p.Gly39fs						p.G39fs	NM_005477.2	NP_005468.1	Q9Y3Q4	HCN4_HUMAN		COAD - Colon adenocarcinoma(1;0.142)	1	1109	-			39					Q9UMQ7	Frame_Shift_Del	DEL	ENST00000261917.3	37	c.116delG	CCDS10248.1																																																																																				0.751	HCN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268900.2	NM_005477		2	4						2	4	---	---	---	---	-	73660496	C	-	73660496	7	5	313	1	0	1	0	1	0	0	0	0	6999	739	26	0	3527	0	HCN4	15	73660496	Frame_Shift_Del	DEL	C	TCGA-KK-A6E2-01A-11D-A30X-08	16095258	73660496	28870896	38	16093											
TFAP4	7023	broad.mit.edu	37	chr16	4310115	4310115	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	acgatggtgtccagattttgCcgggatgtggaaacagagtt	10	11	14	6	2	0	2	0	0	0	2	1	5	1	4	2	3	2	1	2	3	1	3			TCGA-KK-A6E2-01A-11D-A30X-08	TCGA-KK-A6E2-11A-21D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de2a74cb-41dc-42b1-831b-160074fee3b9	f6ecbcaa-aa62-4d04-afab-2d9e24ff0bbb	g.chr16:4310115C>T	ENST00000204517.6	-	6	1126	c.798G>A	c.(796-798)cgG>cgA	p.R266R		NM_003223.2	NP_003214.1	Q01664	TFAP4_HUMAN	transcription factor AP-4 (activating enhancer binding protein 4)	266					cellular response to dexamethasone stimulus (GO:0071549)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|negative regulation by host of viral transcription (GO:0043922)|negative regulation of cell cycle arrest (GO:0071157)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of DNA binding (GO:0043392)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:2001269)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	DNA binding (GO:0003677)|E-box binding (GO:0070888)|histone deacetylase binding (GO:0042826)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|endometrium(2)|lung(8)|ovary(1)|prostate(1)|skin(1)	14						CCAGATTTTGCCGGGATGTGG	0.582																																						ENST00000204517.6																			0				NS(1)|endometrium(2)|lung(8)|ovary(1)|prostate(1)|skin(1)	14						c.(796-798)cgG>cgA		transcription factor AP-4 (activating enhancer binding protein 4)							120	111	114					16																	4310115		2197	4300	6497	SO:0001819	synonymous_variant	7023				DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|negative regulation by host of viral transcription|negative regulation of cell cycle arrest|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|negative regulation of DNA binding|negative regulation of transcription, DNA-dependent|positive regulation by host of viral transcription|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein complex assembly|regulation of S phase of mitotic cell cycle	transcriptional repressor complex	E-box binding|histone deacetylase binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity	g.chr16:4310115C>T	X57435	CCDS10510.1	16p13	2013-05-21	2001-11-28		ENSG00000090447	ENSG00000090447		"Basic helix-loop-helix proteins"	11745	protein-coding gene	gene with protein product		600743	"transcription factor AP-4 (activating enhancer-binding protein 4)"			2123466	Standard	NM_003223		Approved	AP-4, bHLHc41	uc010uxg.2	Q01664	OTTHUMG00000129435	ENST00000204517.6:c.798G>A	16.37:g.4310115C>T							p.R266R	NM_003223.2	NP_003214.1	Q01664	TFAP4_HUMAN			6	1126	-			266					O60409	Silent	SNP	ENST00000204517.6	37	c.798G>A	CCDS10510.1																																																																																				0.582	TFAP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251595.2	NM_003223		4	95	0	0	0	1	0	4	95					T	4310115	C	T	4310115	2	4	313	1	0	0	0	0	0	0	0	1	15789	726	26	3		3	TFAP4	16	4310115	Silent	SNP	C	TCGA-KK-A6E2-01A-11D-A30X-08		4310115	86044638	39	16094											
VWA3A	146177	broad.mit.edu	37	chr16	22132353	22132353	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taaacccccaaagcatgacgCtcctctcaccattgagtttc	11	10	5	15	1	1	2	1	2	1	0	4	2	2	2	4	0	2	3	4	0	3	3			TCGA-KK-A6E2-01A-11D-A30X-08	TCGA-KK-A6E2-11A-21D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de2a74cb-41dc-42b1-831b-160074fee3b9	f6ecbcaa-aa62-4d04-afab-2d9e24ff0bbb	g.chr16:22132353C>A	ENST00000389398.5	+	13	1277	c.1181C>A	c.(1180-1182)gCt>gAt	p.A394D	VWA3A_ENST00000389397.4_5'UTR	NM_173615.3	NP_775886.3	A6NCI4	VWA3A_HUMAN	von Willebrand factor A domain containing 3A	394						extracellular region (GO:0005576)				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(1)|skin(1)	7				GBM - Glioblastoma multiforme(48;0.0439)		AAGCATGACGCTCCTCTCACC	0.443																																						ENST00000389398.5																			0				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(1)|skin(1)	7						c.(1180-1182)gCt>gAt		von Willebrand factor A domain containing 3A							106	99	101					16																	22132353		1890	4113	6003	SO:0001583	missense	146177					extracellular region		g.chr16:22132353C>A	AK128606, AK098260	CCDS45441.1	16p12.1	2008-02-05				ENSG00000175267			27088	protein-coding gene	gene with protein product						12477932	Standard	XM_006721021		Approved	FLJ46765, FLJ40941	uc010vbq.2	A6NCI4		ENST00000389398.5:c.1181C>A	16.37:g.22132353C>A	ENSP00000374049:p.Ala394Asp					VWA3A_ENST00000389397.4_5'UTR	p.A394D	NM_173615.3	NP_775886.3	A6NCI4	VWA3A_HUMAN		GBM - Glioblastoma multiforme(48;0.0439)	13	1277	+			394					A4QMU8|A6NNC0|Q6UTX4|Q6ZQZ9|Q8IUY6|Q8N9W1	Missense_Mutation	SNP	ENST00000389398.5	37	c.1181C>A	CCDS45441.1	.	.	.	.	.	.	.	.	.	.	C	10.10	1.258500	0.23051	.	.	ENSG00000175267	ENST00000389398;ENST00000299840	T	0.12255	2.7	5.48	-3.4	0.04853	.	0.776715	0.12088	N	0.500667	T	0.07593	0.0191	N	0.16478	0.41	0.09310	N	0.999994	B;B	0.09022	0.001;0.002	B;B	0.09377	0.002;0.004	T	0.33445	-0.9868	10	0.72032	D	0.01	.	9.2754	0.37696	0.3183:0.1786:0.5031:0.0	.	394;18	A6NCI4;A6NCI4-2	VWA3A_HUMAN;.	D	394;17	ENSP00000374049:A394D	ENSP00000299840:A17D	A	+	2	0	VWA3A	22039854	0.000000	0.05858	0.010000	0.14722	0.599000	0.36880	-0.011000	0.12721	-0.288000	0.09051	0.650000	0.86243	GCT		0.443	VWA3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430052.1			5	61	1	0	0.014758	1	0.0151515	5	61					A	22132353	C	A	22132353	3	1	313	1	0	0	0	0	1	0	0	0	17237	797	28	5	1231	5	VWA3A	16	22132353	Missense_Mutation	SNP	C	TCGA-KK-A6E2-01A-11D-A30X-08	17822238	22132353	68222400	40	16095											
CIAPIN1	57019	broad.mit.edu	37	chr16	57468061	57468061	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aacaaacagcaggttgtcacTttcatgaccaaggtgttctc	12	11	8	10	0	3	1	2	1	1	0	4	1	3	1	1	2	3	3	1	2	3	3			TCGA-KK-A6E2-01A-11D-A30X-08	TCGA-KK-A6E2-11A-21D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de2a74cb-41dc-42b1-831b-160074fee3b9	f6ecbcaa-aa62-4d04-afab-2d9e24ff0bbb	g.chr16:57468061T>A	ENST00000569979.1	-	4	497	c.451A>T	c.(451-453)Agt>Tgt	p.S151C	CIAPIN1_ENST00000567518.1_Missense_Mutation_p.S138C|CIAPIN1_ENST00000569246.1_5'UTR|CIAPIN1_ENST00000568940.1_Missense_Mutation_p.S151C|CIAPIN1_ENST00000394391.4_Missense_Mutation_p.S151C|CIAPIN1_ENST00000565961.1_Missense_Mutation_p.S124C|CIAPIN1_ENST00000569370.1_Missense_Mutation_p.S151C					cytokine induced apoptosis inhibitor 1											cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1)	10						AGGTTGTCACTTTCATGACCA	0.463																																						ENST00000394391.4																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1)	10						c.(451-453)Agt>Tgt		cytokine induced apoptosis inhibitor 1							140	129	132					16																	57468061		1897	4123	6020	SO:0001583	missense	57019				anti-apoptosis|apoptosis	cytoplasm|nucleolus		g.chr16:57468061T>A	AF248964	CCDS10781.2	16q21	2012-09-20			ENSG00000005194	ENSG00000005194			28050	protein-coding gene	gene with protein product		608943				10493829, 11230166	Standard	XM_005256061		Approved	Anamorsin	uc002ell.1	Q6FI81	OTTHUMG00000133457	ENST00000569979.1:c.451A>T	16.37:g.57468061T>A	ENSP00000458000:p.Ser151Cys					CIAPIN1_ENST00000568940.1_Missense_Mutation_p.S151C|CIAPIN1_ENST00000569979.1_Missense_Mutation_p.S151C|CIAPIN1_ENST00000565961.1_Missense_Mutation_p.S124C|CIAPIN1_ENST00000569370.1_Missense_Mutation_p.S151C|CIAPIN1_ENST00000569246.1_5'UTR|CIAPIN1_ENST00000567518.1_Missense_Mutation_p.S138C	p.S151C	NM_020313.2	NP_064709.2	Q6FI81	CPIN1_HUMAN			5	692	-			151						Missense_Mutation	SNP	ENST00000569979.1	37	c.451A>T		.	.	.	.	.	.	.	.	.	.	T	12.33	1.904707	0.33628	.	.	ENSG00000005194	ENST00000394391	T	0.34667	1.35	5.28	4.19	0.49359	.	0.044322	0.85682	D	0.000000	T	0.50548	0.1622	M	0.75264	2.295	0.31447	N	0.671263	D;D;D	0.71674	0.998;0.995;0.989	P;P;B	0.59825	0.864;0.718;0.445	T	0.60058	-0.7337	10	0.62326	D	0.03	-6.1219	6.4663	0.21983	0.0:0.2676:0.0:0.7324	.	151;138;151	B4DHB9;Q6FI81-3;Q6FI81	.;.;CPIN1_HUMAN	C	151	ENSP00000377914:S151C	ENSP00000377914:S151C	S	-	1	0	CIAPIN1	56025562	1.000000	0.71417	0.131000	0.22000	0.025000	0.11179	4.454000	0.60068	0.965000	0.38133	0.460000	0.39030	AGT		0.463	CIAPIN1-010	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000432580.1	NM_020313		16	96	0	0	0	1	0	16	96					A	57468061	T	A	57468061	3	1	313	1	0	0	0	0	1	0	0	0	3419	1609	56	5	507	5	CIAPIN1	16	57468061	Missense_Mutation	SNP	T	TCGA-KK-A6E2-01A-11D-A30X-08	35335708	57468061	32886692	41	16096											
C16orf80	29105	broad.mit.edu	37	chr16	58149203	58149203	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agggtctcgatgtaattggtGccgtatgctcgccgtgtgaa	7	12	14	8	4	1	1	0	1	1	0	3	2	1	1	2	2	2	3	2	2	3	3			TCGA-KK-A6E2-01A-11D-A30X-08	TCGA-KK-A6E2-11A-21D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de2a74cb-41dc-42b1-831b-160074fee3b9	f6ecbcaa-aa62-4d04-afab-2d9e24ff0bbb	g.chr16:58149203G>C	ENST00000262498.3	-	4	769	c.435C>G	c.(433-435)ggC>ggG	p.G145G	C16orf80_ENST00000562443.1_5'UTR|CTB-134F13.1_ENST00000564672.1_RNA	NM_013242.2	NP_037374.1														kidney(1)|large_intestine(1)|lung(1)|prostate(1)	4						TGTAATTGGTGCCGTATGCTC	0.552																																					Pancreas(103;1212 1612 18629 30162 52390)	ENST00000262498.3																			0				kidney(1)|large_intestine(1)|lung(1)|prostate(1)	4						c.(433-435)ggC>ggG		chromosome 16 open reading frame 80							241	199	213					16																	58149203		2198	4300	6498	SO:0001819	synonymous_variant	29105				multicellular organismal development			g.chr16:58149203G>C																												ENST00000262498.3:c.435C>G	16.37:g.58149203G>C						C16orf80_ENST00000562443.1_5'UTR	p.G145G	NM_013242.2	NP_037374.1	Q9Y6A4	CP080_HUMAN			4	769	-			145						Silent	SNP	ENST00000262498.3	37	c.435C>G	CCDS10793.1																																																																																				0.552	C16orf80-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257388.2			54	91	0	0	0	1	0	54	91					C	58149203	G	C	58149203	2	2	313	1	0	0	0	0	0	0	0	1	1837	1306	46	5		5	C16orf80	16	58149203	Silent	SNP	G	TCGA-KK-A6E2-01A-11D-A30X-08	681142	58149203	32205550	42	16097											
SLC38A7	55238	broad.mit.edu	37	chr16	58706128	58706128	+	Frame_Shift_Del	DEL	G	G	-																															ggatccacagcagctccaaaGgtcaggaagccacagatgcc																										TCGA-KK-A6E2-01A-11D-A30X-08	TCGA-KK-A6E2-11A-21D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de2a74cb-41dc-42b1-831b-160074fee3b9	f6ecbcaa-aa62-4d04-afab-2d9e24ff0bbb	g.chr16:58706128delG	ENST00000570101.1	-	8	1786	c.903delC	c.(901-903)accfs	p.T301fs	SLC38A7_ENST00000564100.1_Intron|SLC38A7_ENST00000566953.1_5'UTR|SLC38A7_ENST00000219320.4_Frame_Shift_Del_p.T301fs|SLC38A7_ENST00000564010.1_Frame_Shift_Del_p.T212fs			Q9NVC3	S38A7_HUMAN	solute carrier family 38, member 7	301					sodium ion transport (GO:0006814)	axon (GO:0030424)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)	L-alanine transmembrane transporter activity (GO:0015180)|L-amino acid transmembrane transporter activity (GO:0015179)|L-asparagine transmembrane transporter activity (GO:0015182)|L-aspartate transmembrane transporter activity (GO:0015183)|L-glutamate transmembrane transporter activity (GO:0005313)|L-glutamine transmembrane transporter activity (GO:0015186)|L-histidine transmembrane transporter activity (GO:0005290)|L-leucine transmembrane transporter activity (GO:0015190)|L-methionine transmembrane transporter activity (GO:0015191)|L-serine transmembrane transporter activity (GO:0015194)			endometrium(1)|large_intestine(2)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	13						CAGCTCCAAAGGTCAGGAAGC	0.612																																						ENST00000570101.1																			0				endometrium(1)|large_intestine(2)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	13						c.(901-903)acfs		solute carrier family 38, member 7							38	33	35					16																	58706128		2187	4291	6478	SO:0001589	frameshift_variant	55238				amino acid transport|sodium ion transport	integral to membrane		g.chr16:58706128delG	BC001961	CCDS10800.1	16q21	2013-05-22			ENSG00000103042	ENSG00000103042		"Solute carriers"	25582	protein-coding gene	gene with protein product		614236					Standard	XM_006721229		Approved	FLJ10815	uc002eod.1	Q9NVC3	OTTHUMG00000133491	ENST00000570101.1:c.903delC	16.37:g.58706128delG	ENSP00000454646:p.Thr301fs					SLC38A7_ENST00000564100.1_Intron|SLC38A7_ENST00000219320.4_Frame_Shift_Del_p.T301fs|SLC38A7_ENST00000564010.1_Frame_Shift_Del_p.T212fs|SLC38A7_ENST00000566953.1_5'UTR	p.T301fs			Q9NVC3	S38A7_HUMAN			8	1786	-			301					Q53GJ9|Q9H9I5	Frame_Shift_Del	DEL	ENST00000570101.1	37	c.903delC	CCDS10800.1																																																																																				0.612	SLC38A7-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422206.2	NM_018231		2	4						2	4	---	---	---	---	-	58706128	G	-	58706128	7	5	313	1	0	1	0	1	0	0	0	0	14609	987	35	0	501	0	SLC38A7	16	58706128	Frame_Shift_Del	DEL	G	TCGA-KK-A6E2-01A-11D-A30X-08	556925	58706128	31648625	43	16098											
HSF4	3299	broad.mit.edu	37	chr16	67199716	67199716	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cacccgagcttcgtgcgcggCcgcgagcagctactggagcg	6	5	15	15	7	0	0	0	0	0	0	1	3	0	1	2	2	6	3	2	2	1	2			TCGA-KK-A6E2-01A-11D-A30X-08	TCGA-KK-A6E2-11A-21D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de2a74cb-41dc-42b1-831b-160074fee3b9	f6ecbcaa-aa62-4d04-afab-2d9e24ff0bbb	g.chr16:67199716C>G	ENST00000521374.1	+	3	327	c.327C>G	c.(325-327)ggC>ggG	p.G109G	HSF4_ENST00000421453.1_Silent_p.G109G|HSF4_ENST00000264009.8_Silent_p.G109G|HSF4_ENST00000584272.1_Silent_p.G109G			Q9ULV5	HSF4_HUMAN	heat shock transcription factor 4	109					camera-type eye development (GO:0043010)|cell development (GO:0048468)|histone H3-K9 demethylation (GO:0033169)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein homotrimerization (GO:0070207)|regulation of transcription, DNA-templated (GO:0006355)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	protein phosphatase binding (GO:0019903)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)	p.G109G(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	12		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.0335)|all cancers(182;0.184)		TCGTGCGCGGCCGCGAGCAGC	0.692																																						ENST00000264009.8																			1	Substitution - coding silent(1)	p.G109G(1)	prostate(1)	central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	12						c.(325-327)ggC>ggG		heat shock transcription factor 4							9	13	12					16																	67199716		1905	4026	5931	SO:0001819	synonymous_variant	3299				response to stress	nucleus	sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr16:67199716C>G	D87673	CCDS42175.1, CCDS45510.1	16q21	2013-01-22			ENSG00000102878	ENSG00000102878			5227	protein-coding gene	gene with protein product		602438	"cataract, Marner"	CTM		8972228, 10488131, 12089525	Standard	NM_001538		Approved		uc002erl.2	Q9ULV5	OTTHUMG00000178325	ENST00000521374.1:c.327C>G	16.37:g.67199716C>G						HSF4_ENST00000521374.1_Silent_p.G109G|HSF4_ENST00000584272.1_Silent_p.G109G|RP11-5A19.5_ENST00000518753.1_3'UTR|HSF4_ENST00000421453.1_Silent_p.G109G	p.G109G	NM_001040667.2	NP_001035757.1	Q9ULV5	HSF4_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.0335)|all cancers(182;0.184)	5	1292	+		Ovarian(137;0.0563)	109					Q99472|Q9ULV6	Silent	SNP	ENST00000521374.1	37	c.327C>G	CCDS42175.1																																																																																				0.692	HSF4-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375080.1	NM_001538		6	40	0	0	0	1	0	6	40					G	67199716	C	G	67199716	2	3	313	1	0	0	0	0	0	0	0	1	7398	726	26	5		5	HSF4	16	67199716	Silent	SNP	C	TCGA-KK-A6E2-01A-11D-A30X-08	8493588	67199716	23155037	44	16099											
MYH10	4628	broad.mit.edu	37	chr17	8526221	8526221	+	Splice_Site	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atttggaagaaatacttacaTagattagtcctgaatagtag	16	13	8	4	0	0	3	0	1	0	2	1	4	1	4	1	1	2	1	1	1	9	7	rs367804571		TCGA-KK-A6E2-01A-11D-A30X-08	TCGA-KK-A6E2-11A-21D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de2a74cb-41dc-42b1-831b-160074fee3b9	f6ecbcaa-aa62-4d04-afab-2d9e24ff0bbb	g.chr17:8526221T>G	ENST00000269243.4	-	2	482	c.344A>C	c.(343-345)tAt>tCt	p.Y115S	MYH10_ENST00000360416.3_Splice_Site_p.Y115S|MYH10_ENST00000396239.1_Splice_Site_p.Y115S|MYH10_ENST00000379980.4_Splice_Site_p.Y115S	NM_005964.3	NP_005955.3	P35580	MYH10_HUMAN	myosin, heavy chain 10, non-muscle	115	Myosin motor.				actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cardiac myofibril assembly (GO:0055003)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|cerebellar Purkinje cell layer development (GO:0021680)|exocytosis (GO:0006887)|fourth ventricle development (GO:0021592)|in utero embryonic development (GO:0001701)|lateral ventricle development (GO:0021670)|mitotic cytokinesis (GO:0000281)|neuromuscular process controlling balance (GO:0050885)|neuron migration (GO:0001764)|nuclear migration (GO:0007097)|plasma membrane repair (GO:0001778)|regulation of cell shape (GO:0008360)|retina development in camera-type eye (GO:0060041)|substrate-dependent cell migration, cell extension (GO:0006930)|third ventricle development (GO:0021678)|ventricular cardiac muscle cell development (GO:0055015)	actomyosin (GO:0042641)|axon (GO:0030424)|cell cortex (GO:0005938)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|midbody (GO:0030496)|myosin complex (GO:0016459)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle (GO:0005819)|stress fiber (GO:0001725)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1)	52						AATACTTACATAGATTAGTCC	0.348																																						ENST00000360416.3																			0				breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1)	52						c.e2+1		myosin, heavy chain 10, non-muscle							89	83	85					17																	8526221		2203	4300	6503	SO:0001630	splice_region_variant	4628				actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape	cell cortex|cleavage furrow|midbody|myosin complex|stress fiber	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr17:8526221T>G	M69181	CCDS11144.1, CCDS58515.1, CCDS73984.1	17p13	2011-09-27	2006-09-29		ENSG00000133026	ENSG00000133026		"Myosins / Myosin superfamily : Class II"	7568	protein-coding gene	gene with protein product		160776	"myosin, heavy polypeptide 10, non-muscle"			1860190	Standard	NM_001256012		Approved	NMMHCB	uc002glm.4	P35580	OTTHUMG00000108195	ENST00000269243.4:c.345+1A>C	17.37:g.8526221T>G						MYH10_ENST00000379980.4_Splice_Site_p.Y115_splice|MYH10_ENST00000269243.4_Splice_Site_p.Y115_splice|MYH10_ENST00000396239.1_Splice_Site_p.Y115_splice	p.Y115_splice	NM_001256012.1	NP_001242941.1	P35580	MYH10_HUMAN			2	482	-			115			Myosin head-like.		B2RWP9|D3DTS1|F8VTL3|Q12989|Q149N3|Q149N4|Q16087|Q4LE45|Q6PK16|Q9BWG0	Splice_Site	SNP	ENST00000269243.4	37	c.345_splice	CCDS11144.1	.	.	.	.	.	.	.	.	.	.	T	21.7	4.187472	0.78789	.	.	ENSG00000133026	ENST00000269243;ENST00000360416;ENST00000396239;ENST00000379980;ENST00000411957	D;D;D;D;D	0.98362	-1.95;-1.95;-4.89;-1.95;-1.95	4.78	4.78	0.61160	Myosin head, motor domain (3);	0.000000	0.85682	D	0.000000	D	0.99453	0.9806	H	0.99487	4.59	0.58432	D	0.999999	D;D;D	0.76494	0.999;0.996;0.999	D;D;D	0.91635	0.999;0.97;0.999	D	0.97892	1.0298	10	0.87932	D	0	.	14.1342	0.65276	0.0:0.0:0.0:1.0	.	115;115;115	B2RWP9;F8VTL3;P35580	.;.;MYH10_HUMAN	S	115	ENSP00000269243:Y115S;ENSP00000353590:Y115S;ENSP00000379539:Y115S;ENSP00000369315:Y115S;ENSP00000408220:Y115S	ENSP00000269243:Y115S	Y	-	2	0	MYH10	8466946	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.776000	0.85560	1.998000	0.58463	0.459000	0.35465	TAT		0.348	MYH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000227001.2		Missense_Mutation	12	24	0	0	0	1	0	12	24					G	8526221	T	G	8526221	5	3	313	1	0	0	0	0	0	0	1	0	10030	1420	49	5	5746	5	MYH10	17	8526221	Splice_Site	SNP	T	TCGA-KK-A6E2-01A-11D-A30X-08		8526221	72668989	45	16100											
UNK	85451	broad.mit.edu	37	chr17	73780852	73780852	+	5'UTR	DEL	G	G	-																															agcaacccctgctgccgtgtGgggggtcttcacgttctcgt																										TCGA-KK-A6E2-01A-11D-A30X-08	TCGA-KK-A6E2-11A-21D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de2a74cb-41dc-42b1-831b-160074fee3b9	f6ecbcaa-aa62-4d04-afab-2d9e24ff0bbb	g.chr17:73780852delG	ENST00000589666.1	+	0	1				H3F3B_ENST00000586607.1_Intron|UNK_ENST00000293218.3_Frame_Shift_Del_p.W40fs|MIR4738_ENST00000579134.1_RNA	NM_001080419.2	NP_001073888.2	Q9C0B0	UNK_HUMAN	unkempt family zinc finger								poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			cervix(3)|endometrium(8)|kidney(2)|large_intestine(5)|lung(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	25			all cancers(21;2.61e-06)|Epithelial(20;7.39e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|LUSC - Lung squamous cell carcinoma(166;0.154)			GCTGCCGTGTGGGGGGTCTTC	0.617																																						ENST00000293218.3																			0				cervix(3)|endometrium(8)|kidney(2)|large_intestine(5)|lung(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	25						c.(118-120)tgfs		unkempt family zinc finger							22	28	26					17																	73780852		1915	4119	6034	SO:0001623	5_prime_UTR_variant	85451						nucleic acid binding|zinc ion binding	g.chr17:73780852delG	AB051540	CCDS45778.1, CCDS45778.2	17q25.3	2013-10-17	2013-10-17	2007-02-06		ENSG00000132478		"Zinc fingers, CCCH-type domain containing"	29369	protein-coding gene	gene with protein product			"zinc finger CCCH-type domain containing 5", "zinc finger CCCH-type containing 5", "unkempt homolog (Drosophila)"	ZC3HDC5, ZC3H5		11214970	Standard	NM_001080419		Approved	KIAA1753	uc021udd.2	Q9C0B0		ENST00000589666.1:c.-110G>-	17.37:g.73780852delG						H3F3B_ENST00000586607.1_Intron|UNK_ENST00000589666.1_5'UTR	p.W40fs			Q9C0B0	UNK_HUMAN	all cancers(21;2.61e-06)|Epithelial(20;7.39e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|LUSC - Lung squamous cell carcinoma(166;0.154)		2	119	+			0						Frame_Shift_Del	DEL	ENST00000589666.1	37	c.119delG	CCDS45778.2																																																																																				0.617	UNK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448835.1	NM_001080419		7	28						7	28	---	---	---	---	-	73780852	G	-	73780852	6	5	313	0	1	1	0	1	0	0	0	0	16997	1357	47	0		0	UNK	17	73780852	5'UTR	DEL	G	TCGA-KK-A6E2-01A-11D-A30X-08	65254631	73780852	7414358	46	16101											
DNAH17	8632	broad.mit.edu	37	chr17	76496390	76496390	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggaccccggccgcgtaccttGtagtccatctgctcggagca	6	8	12	15	4	1	0	0	0	1	0	3	2	2	2	5	3	3	4	5	3	2	3			TCGA-KK-A6E2-01A-11D-A30X-08	TCGA-KK-A6E2-11A-21D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de2a74cb-41dc-42b1-831b-160074fee3b9	f6ecbcaa-aa62-4d04-afab-2d9e24ff0bbb	g.chr17:76496390G>T	ENST00000585328.1	-	36	5746	c.5622C>A	c.(5620-5622)taC>taA	p.Y1874*	DNAH17-AS1_ENST00000598378.1_Missense_Mutation_p.V108L|DNAH17_ENST00000389840.5_Nonsense_Mutation_p.Y1865*|RP11-559N14.5_ENST00000591373.1_RNA	NM_173628.3	NP_775899.3	Q9UFH2	DYH17_HUMAN	dynein, axonemal, heavy chain 17	1865	AAA 1. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			CGCGTACCTTGTAGTCCATCT	0.612																																						ENST00000389840.5																			0				NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116						c.(5593-5595)taC>taA		dynein, axonemal, heavy chain 17							20	24	23					17																	76496390		1997	4192	6189	SO:0001587	stop_gained	8632							g.chr17:76496390G>T	AJ000522		17q25.3	2012-04-19	2006-09-04		ENSG00000187775	ENSG00000187775		"Axonemal dyneins"	2946	protein-coding gene	gene with protein product		610063	"dynein, axonemal, heavy polypeptide 17", "dynein, axonemal, heavy chain like 1", "dynein, axonemal, heavy like 1"	DNAHL1		9545504	Standard	NM_173628		Approved	DNEL2, FLJ40457	uc010dhp.2	Q9UFH2		ENST00000585328.1:c.5622C>A	17.37:g.76496390G>T	ENSP00000465516:p.Tyr1874*					DNAH17-AS1_ENST00000598378.1_Missense_Mutation_p.V108L|DNAH17_ENST00000585328.1_Nonsense_Mutation_p.Y1874*	p.Y1865*					BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)		36	5719	-								O00431|O15206|Q2M2Y1|Q6ZRQ2|Q8N7Q7	Nonsense_Mutation	SNP	ENST00000585328.1	37	c.5595C>A		.	.	.	.	.	.	.	.	.	.	G	46	12.779927	0.99696	.	.	ENSG00000187775	ENST00000300671;ENST00000389840	.	.	.	3.86	1.84	0.25277	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	6.6936	0.23187	0.4146:0.0:0.5854:0.0	.	.	.	.	X	1874;1865	.	ENSP00000300671:Y1874X	Y	-	3	2	DNAH17	74007985	1.000000	0.71417	1.000000	0.80357	0.873000	0.50193	1.826000	0.39092	0.972000	0.38314	0.448000	0.29417	TAC		0.612	DNAH17-001	PUTATIVE	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000318962.2	NM_173628		4	19	1	0	0.00909568	1	0.00946442	4	19					T	76496390	G	T	76496390	4	4	313	1	0	0	0	0	0	1	0	0	4601	1372	48	5	7935	5	DNAH17	17	76496390	Nonsense_Mutation	SNP	G	TCGA-KK-A6E2-01A-11D-A30X-08	2715538	76496390	4698820	47	16102											
ACAA2	10449	broad.mit.edu	37	chr18	47311571	47311571	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tatttctagcaaataccttaAttcgtgaaccaggtgtgcag	12	13	8	8	1	1	1	0	1	1	0	2	1	1	1	2	1	4	2	2	1	6	6			TCGA-KK-A6E2-01A-11D-A30X-08	TCGA-KK-A6E2-11A-21D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de2a74cb-41dc-42b1-831b-160074fee3b9	f6ecbcaa-aa62-4d04-afab-2d9e24ff0bbb	g.chr18:47311571A>C	ENST00000285093.10	-	9	1580	c.1105T>G	c.(1105-1107)Tta>Gta	p.L369V	ACAA2_ENST00000589432.1_Missense_Mutation_p.L314V|ACAA2_ENST00000587994.1_Missense_Mutation_p.L366V	NM_006111.2	NP_006102.2	P42765	THIM_HUMAN	acetyl-CoA acyltransferase 2	369					cellular response to hypoxia (GO:0071456)|cholesterol biosynthetic process (GO:0006695)|fatty acid metabolic process (GO:0006631)|negative regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902109)|negative regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway (GO:1901029)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	acetyl-CoA C-acyltransferase activity (GO:0003988)|poly(A) RNA binding (GO:0044822)			large_intestine(2)|lung(7)|ovary(1)	10						AAATACCTTAATTCGTGAACC	0.398																																						ENST00000285093.10																			0				large_intestine(2)|lung(7)|ovary(1)	10						c.(1105-1107)Tta>Gta		acetyl-CoA acyltransferase 2							91	82	85					18																	47311571		2203	4300	6503	SO:0001583	missense	10449				anti-apoptosis|cholesterol biosynthetic process		acetyl-CoA C-acyltransferase activity|protein binding	g.chr18:47311571A>C	D16294	CCDS11939.1	18q21	2010-04-30	2010-04-30		ENSG00000167315	ENSG00000167315	2.3.1.16		83	protein-coding gene	gene with protein product	"mitochondrial 3-oxoacyl-Coenzyme A thiolase"	604770	"acetyl-Coenzyme A acyltransferase 2"			8241273	Standard	NM_006111		Approved	DSAEC	uc002ldw.4	P42765	OTTHUMG00000132667	ENST00000285093.10:c.1105T>G	18.37:g.47311571A>C	ENSP00000285093:p.Leu369Val					ACAA2_ENST00000589432.1_Missense_Mutation_p.L314V|ACAA2_ENST00000587994.1_Missense_Mutation_p.L366V	p.L369V	NM_006111.2	NP_006102.2	P42765	THIM_HUMAN			9	1580	-			369					Q9BUT6	Missense_Mutation	SNP	ENST00000285093.10	37	c.1105T>G	CCDS11939.1	.	.	.	.	.	.	.	.	.	.	A	17.25	3.341577	0.61073	.	.	ENSG00000167315	ENST00000285093	D	0.89810	-2.57	5.6	3.25	0.37280	Thiolase-like, subgroup (1);Thiolase-like (1);Thiolase, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.95510	0.8541	H	0.96805	3.885	0.80722	D	1	D;D	0.76494	0.99;0.999	P;D	0.74674	0.897;0.984	D	0.93965	0.7244	10	0.87932	D	0	.	8.0726	0.30697	0.7064:0.0:0.2936:0.0	.	369;369	B2RB23;P42765	.;THIM_HUMAN	V	369	ENSP00000285093:L369V	ENSP00000285093:L369V	L	-	1	2	ACAA2	45565569	1.000000	0.71417	0.998000	0.56505	0.709000	0.40893	3.340000	0.52143	0.431000	0.26258	-0.250000	0.11733	TTA		0.398	ACAA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255921.2	NM_006111		4	65	0	0	0	1	0	4	65					C	47311571	A	C	47311571	3	2	313	1	0	0	0	0	1	0	0	0	105	98	4	5	96	5	ACAA2	18	47311571	Missense_Mutation	SNP	A	TCGA-KK-A6E2-01A-11D-A30X-08		47311571	30765677	48	16103											
MUC16	94025	broad.mit.edu	37	chr19	9064272	9064272	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agatatctgtggttgtcgccGggccagaggtgagaagtgaa	10	9	16	6	2	1	4	0	2	1	3	2	5	1	4	2	3	0	1	2	3	3	2	rs566528880		TCGA-KK-A6E2-01A-11D-A30X-08	TCGA-KK-A6E2-11A-21D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de2a74cb-41dc-42b1-831b-160074fee3b9	f6ecbcaa-aa62-4d04-afab-2d9e24ff0bbb	g.chr19:9064272G>A	ENST00000397910.4	-	3	23377	c.23174C>T	c.(23173-23175)cCg>cTg	p.P7725L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	7727	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GGTTGTCGCCGGGCCAGAGGT	0.517													g|||	1	0.000199681	0	0	5008	,	,		20093	0		0	False		,,,				2504	0.001					ENST00000397910.4																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(23173-23175)cCg>cTg		mucin 16, cell surface associated							117	112	113					19																	9064272		2004	4163	6167	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9064272G>A	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.23174C>T	19.37:g.9064272G>A	ENSP00000381008:p.Pro7725Leu						p.P7725L	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			3	23377	-			7727			Ser-rich.|Thr-rich.		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.23174C>T	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	g	1.246	-0.620072	0.03636	.	.	ENSG00000181143	ENST00000397910	T	0.19938	2.11	1.43	-1.03	0.10102	.	.	.	.	.	T	0.10423	0.0255	N	0.11560	0.145	.	.	.	B	0.02656	0.0	B	0.01281	0.0	T	0.14783	-1.0460	8	0.87932	D	0	.	7.0978	0.25319	0.6047:0.0:0.3953:0.0	.	7725	B5ME49	.	L	7725	ENSP00000381008:P7725L	ENSP00000381008:P7725L	P	-	2	0	MUC16	8925272	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.027000	0.01433	-1.742000	0.01342	-2.597000	0.00163	CCG		0.517	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		4	63	0	0	0	1	0	4	63					A	9064272	G	A	9064272	3	1	313	1	0	0	0	0	1	0	0	0	9973	1116	39	2	20677	2	MUC16	19	9064272	Missense_Mutation	SNP	G	TCGA-KK-A6E2-01A-11D-A30X-08		9064272	50064711	49	16104											
CYP4F22	126410	broad.mit.edu	37	chr19	15662136	15662136	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacagagcttcgccatggccGagttgcgcgtggttgtggca	6	9	16	10	4	0	1	0	0	0	1	1	3	0	1	2	3	2	4	2	3	0	3			TCGA-KK-A6E2-01A-11D-A30X-08	TCGA-KK-A6E2-11A-21D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de2a74cb-41dc-42b1-831b-160074fee3b9	f6ecbcaa-aa62-4d04-afab-2d9e24ff0bbb	g.chr19:15662136G>T	ENST00000269703.3	+	14	1649	c.1450G>T	c.(1450-1452)Gag>Tag	p.E484*	CYP4F22_ENST00000601005.2_Nonsense_Mutation_p.E484*	NM_173483.3	NP_775754.2	Q6NT55	CP4FN_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 22	484						endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen (GO:0016705)			endometrium(6)|large_intestine(9)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|soft_tissue(1)	37						CGCCATGGCCGAGTTGCGCGT	0.637																																						ENST00000269703.2																			0				endometrium(6)|large_intestine(9)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|soft_tissue(1)	37						c.(1450-1452)Gag>Tag		cytochrome P450, family 4, subfamily F, polypeptide 22							53	39	43					19																	15662136		2203	4300	6503	SO:0001587	stop_gained	126410					endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen	g.chr19:15662136G>T		CCDS12331.1	19p13.12	2013-11-11			ENSG00000171954	ENSG00000171954		"Cytochrome P450s"	26820	protein-coding gene	gene with protein product		611495				16436457	Standard	NM_173483		Approved	FLJ39501	uc002nbh.4	Q6NT55	OTTHUMG00000182451	ENST00000269703.3:c.1450G>T	19.37:g.15662136G>T	ENSP00000269703:p.Glu484*					CYP4F22_ENST00000601005.2_Nonsense_Mutation_p.E484*	p.E484*	NM_173483.3	NP_775754.2	Q6NT55	CP4FN_HUMAN			14	1649	+			484					Q8N8H4	Nonsense_Mutation	SNP	ENST00000269703.3	37	c.1450G>T	CCDS12331.1	.	.	.	.	.	.	.	.	.	.	G	36	5.721429	0.96839	.	.	ENSG00000171954	ENST00000269703	.	.	.	4.6	4.6	0.57074	.	0.053133	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	15.245	0.73499	0.0:0.0:1.0:0.0	.	.	.	.	X	484	.	ENSP00000269703:E484X	E	+	1	0	CYP4F22	15523136	1.000000	0.71417	0.965000	0.40720	0.822000	0.46500	6.534000	0.73833	2.247000	0.74100	0.455000	0.32223	GAG		0.637	CYP4F22-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461338.2	NM_173483		14	15	1	0	1.3612e-06	1	1.49732e-06	14	15					T	15662136	G	T	15662136	4	4	313	1	0	0	0	0	0	1	0	0	4189	1059	37	5	1496	5	CYP4F22	19	15662136	Nonsense_Mutation	SNP	G	TCGA-KK-A6E2-01A-11D-A30X-08	6597864	15662136	43466847	50	16105											
CYP4F12	66002	broad.mit.edu	37	chr19	15794476	15794476	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agacgctgtcatccgggagcGgcgtcgcaccctccccactc	6	6	11	18	5	1	1	1	0	0	1	5	2	3	2	4	2	1	2	4	2	0	0			TCGA-KK-A6E2-01A-11D-A30X-08	TCGA-KK-A6E2-11A-21D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de2a74cb-41dc-42b1-831b-160074fee3b9	f6ecbcaa-aa62-4d04-afab-2d9e24ff0bbb	g.chr19:15794476G>A	ENST00000550308.1	+	7	1201	c.821G>A	c.(820-822)cGg>cAg	p.R274Q	CYP4F12_ENST00000324632.10_Missense_Mutation_p.R274Q	NM_023944.3	NP_076433	Q9HCS2	CP4FC_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 12	274					arachidonic acid metabolic process (GO:0019369)|drug metabolic process (GO:0017144)|epoxygenase P450 pathway (GO:0019373)|leukotriene B4 catabolic process (GO:0036101)|long-chain fatty acid metabolic process (GO:0001676)|negative regulation of blood coagulation (GO:0030195)|oxidation-reduction process (GO:0055114)|pressure natriuresis (GO:0003095)|renal water homeostasis (GO:0003091)|small molecule metabolic process (GO:0044281)|sodium ion homeostasis (GO:0055078)|very long-chain fatty acid metabolic process (GO:0000038)|vitamin E metabolic process (GO:0042360)|vitamin K biosynthetic process (GO:0042371)|xenobiotic metabolic process (GO:0006805)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)	alkane 1-monooxygenase activity (GO:0018685)|arachidonic acid epoxygenase activity (GO:0008392)|aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|leukotriene-B4 20-monooxygenase activity (GO:0050051)|vitamin-K-epoxide reductase (warfarin-sensitive) activity (GO:0047057)			NS(1)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	41	Acute lymphoblastic leukemia(2;0.0367)				Fingolimod(DB08868)	ATCCGGGAGCGGCGTCGCACC	0.537																																						ENST00000550308.1																			0				NS(1)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	41						c.(820-822)cGg>cAg		cytochrome P450, family 4, subfamily F, polypeptide 12							98	98	98					19																	15794476		2200	4298	6498	SO:0001583	missense	66002							g.chr19:15794476G>A	AB035130	CCDS42517.1	19p13.1	2008-02-05	2003-01-14		ENSG00000186204	ENSG00000186204		"Cytochrome P450s"	18857	protein-coding gene	gene with protein product		611485	"cytochrome P450, subfamily IVF, polypeptide 12"			11162607	Standard	NM_023944		Approved		uc002nbl.3	Q9HCS2	OTTHUMG00000164477	ENST00000550308.1:c.821G>A	19.37:g.15794476G>A	ENSP00000448998:p.Arg274Gln					CYP4F12_ENST00000324632.9_Missense_Mutation_p.R274Q	p.R274Q	NM_023944.3	NP_076433.3					7	1201	+	Acute lymphoblastic leukemia(2;0.0367)							E7ET51|O60389|Q5JPJ7|Q9HCS1	Missense_Mutation	SNP	ENST00000550308.1	37	c.821G>A	CCDS42517.1	.	.	.	.	.	.	.	.	.	.	.	14.63	2.593051	0.46214	.	.	ENSG00000186204	ENST00000550308;ENST00000324632	D;D	0.81908	-1.55;-1.55	2.47	0.271	0.15640	.	0.100952	0.38778	U	0.001575	D	0.85435	0.5696	M	0.86502	2.82	0.37703	D	0.924304	D	0.56035	0.974	P	0.50659	0.647	D	0.84572	0.0656	10	0.87932	D	0	.	6.4621	0.21962	0.2735:0.0:0.7265:0.0	.	274	Q9HCS2	CP4FC_HUMAN	Q	274	ENSP00000448998:R274Q;ENSP00000321821:R274Q	ENSP00000321821:R274Q	R	+	2	0	CYP4F12	15655476	0.998000	0.40836	0.726000	0.30738	0.403000	0.30841	4.975000	0.63777	0.141000	0.18875	0.491000	0.48974	CGG		0.537	CYP4F12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378938.9			33	99	0	0	0	1	0	33	99					A	15794476	G	A	15794476	3	1	313	1	0	0	0	0	1	0	0	0	4187	1116	39	2	843	2	CYP4F12	19	15794476	Missense_Mutation	SNP	G	TCGA-KK-A6E2-01A-11D-A30X-08	132340	15794476	43334507	51	16106											
SF4	57794	broad.mit.edu	37	chr19	19431287	19431287	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttacctgcaacatcccggtTgtccatcttgagactcatcc	8	12	7	14	1	2	1	1	1	1	1	5	2	5	1	4	1	3	3	4	1	2	3			TCGA-KK-A6E2-01A-11D-A30X-08	TCGA-KK-A6E2-11A-21D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de2a74cb-41dc-42b1-831b-160074fee3b9	f6ecbcaa-aa62-4d04-afab-2d9e24ff0bbb	g.chr19:19431287T>A	ENST00000247001.5	-	1	366	c.19A>T	c.(19-21)Aac>Tac	p.N7Y	SUGP1_ENST00000585763.1_5'UTR|MAU2_ENST00000392313.6_5'Flank|MAU2_ENST00000262815.8_5'Flank|SUGP1_ENST00000334782.5_Missense_Mutation_p.N7Y	NM_172231.3	NP_757386.2	Q8IWZ8	SUGP1_HUMAN	SURP and G patch domain containing 1	7					gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	nucleoplasm (GO:0005654)|spliceosomal complex (GO:0005681)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(7)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2)	22						ACATCCCGGTTGTCCATCTTG	0.632																																						ENST00000247001.5																			0				NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(7)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2)	22						c.(19-21)Aac>Tac		SURP and G patch domain containing 1							91	95	94					19																	19431287		2203	4300	6503	SO:0001583	missense	57794				nuclear mRNA splicing, via spliceosome	nucleoplasm|spliceosomal complex	RNA binding	g.chr19:19431287T>A	AF521128	CCDS12399.1	19p13	2013-01-28	2010-08-10	2010-08-10		ENSG00000105705		"G patch domain containing"	18643	protein-coding gene	gene with protein product		607992	"splicing factor 4"	SF4		12594045	Standard	NM_172231		Approved	F23858, DKFZp434E2216, RBP	uc002nmh.3	Q8IWZ8		ENST00000247001.5:c.19A>T	19.37:g.19431287T>A	ENSP00000247001:p.Asn7Tyr					SUGP1_ENST00000334782.5_Missense_Mutation_p.N7Y|SUGP1_ENST00000585763.1_5'UTR	p.N7Y	NM_172231.3	NP_757386.2	Q8IWZ8	SUGP1_HUMAN			1	366	-			7					O60378|Q6P3X9|Q8TCQ4|Q8WWT4|Q8WWT5|Q9NTG3	Missense_Mutation	SNP	ENST00000247001.5	37	c.19A>T	CCDS12399.1	.	.	.	.	.	.	.	.	.	.	T	23.8	4.457164	0.84317	.	.	ENSG00000105705	ENST00000247001;ENST00000535070;ENST00000334782	T	0.23147	1.92	5.41	5.41	0.78517	.	0.492664	0.19450	N	0.113959	T	0.26557	0.0649	L	0.51422	1.61	0.36371	D	0.861295	P	0.47350	0.894	B	0.41723	0.365	T	0.35126	-0.9801	10	0.72032	D	0.01	.	11.8269	0.52271	0.0:0.0:0.0:1.0	.	7	Q8IWZ8	SUGP1_HUMAN	Y	7	ENSP00000247001:N7Y	ENSP00000247001:N7Y	N	-	1	0	SUGP1	19292287	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.695000	0.54749	2.059000	0.61396	0.459000	0.35465	AAC		0.632	SUGP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460128.4	NM_021164		28	81	0	0	0	1	0	28	81					A	19431287	T	A	19431287	3	1	313	1	0	0	0	0	1	0	0	0	14155	1812	63	5	1974	5	SF4	19	19431287	Missense_Mutation	SNP	T	TCGA-KK-A6E2-01A-11D-A30X-08	3636811	19431287	39697696	52	16107											
ARHGEF1	9138	broad.mit.edu	37	chr19	42392871	42392871	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agagcctggagcaggtgaagCggcgcccagcccacctcatg	9	4	14	14	2	1	2	1	1	0	1	1	3	1	3	4	3	4	1	4	3	1	0			TCGA-KK-A6E2-01A-11D-A30X-08	TCGA-KK-A6E2-11A-21D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de2a74cb-41dc-42b1-831b-160074fee3b9	f6ecbcaa-aa62-4d04-afab-2d9e24ff0bbb	g.chr19:42392871C>T	ENST00000354532.3	+	4	308	c.160C>T	c.(160-162)Cgg>Tgg	p.R54W	ARHGEF1_ENST00000378152.4_Missense_Mutation_p.R69W|ARHGEF1_ENST00000599846.1_Missense_Mutation_p.R54W|ARHGEF1_ENST00000347545.4_Missense_Mutation_p.R54W|ARHGEF1_ENST00000596957.1_Intron|ARHGEF1_ENST00000337665.4_Missense_Mutation_p.R69W	NM_004706.3	NP_004697.2	Q92888	ARHG1_HUMAN	Rho guanine nucleotide exchange factor (GEF) 1	54	RGSL.				cell proliferation (GO:0008283)|negative regulation of axonogenesis (GO:0050771)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of axonogenesis (GO:0050770)|Rho protein signal transduction (GO:0007266)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|poly(A) RNA binding (GO:0044822)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|endometrium(8)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		Renal(1328;0.000518)|Hepatocellular(1079;0.0046)|Medulloblastoma(540;0.0425)		Epithelial(262;5.89e-46)|GBM - Glioblastoma multiforme(1328;2.49e-12)|STAD - Stomach adenocarcinoma(1328;0.00644)		GCAGGTGAAGCGGCGCCCAGC	0.647																																						ENST00000599846.1																			0				breast(2)|endometrium(8)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						c.(160-162)Cgg>Tgg		Rho guanine nucleotide exchange factor (GEF) 1							55	52	53					19																	42392871		2203	4300	6503	SO:0001583	missense	0				cell proliferation|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway|positive regulation of axonogenesis|regulation of Rho protein signal transduction|Rho protein signal transduction	cytosol|plasma membrane	GTPase activator activity|protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr19:42392871C>T	U64105	CCDS12590.1, CCDS12591.1, CCDS12592.1	19q13.13	2014-06-19			ENSG00000076928	ENSG00000076928		"Rho guanine nucleotide exchange factors"	681	protein-coding gene	gene with protein product		601855				8810315, 9135076	Standard	NM_004706		Approved	P115-RHOGEF, SUB1.5, LBCL2	uc002osa.3	Q92888	OTTHUMG00000182679	ENST00000354532.3:c.160C>T	19.37:g.42392871C>T	ENSP00000346532:p.Arg54Trp					ARHGEF1_ENST00000347545.4_Missense_Mutation_p.R54W|ARHGEF1_ENST00000378152.4_Missense_Mutation_p.R69W|ARHGEF1_ENST00000596957.1_Intron|ARHGEF1_ENST00000337665.4_Missense_Mutation_p.R69W|ARHGEF1_ENST00000354532.3_Missense_Mutation_p.R54W	p.R54W			Q92888	ARHG1_HUMAN		Epithelial(262;5.89e-46)|GBM - Glioblastoma multiforme(1328;2.49e-12)|STAD - Stomach adenocarcinoma(1328;0.00644)	4	285	+		Renal(1328;0.000518)|Hepatocellular(1079;0.0046)|Medulloblastoma(540;0.0425)	54			RGSL.		O00513|Q8N4J4|Q96BF4|Q96F17|Q9BSB1	Missense_Mutation	SNP	ENST00000354532.3	37	c.160C>T	CCDS12591.1	.	.	.	.	.	.	.	.	.	.	C	18.78	3.696006	0.68386	.	.	ENSG00000076928	ENST00000354532;ENST00000347545;ENST00000316079;ENST00000337665;ENST00000378152	D;D;D;D	0.82984	-1.67;-1.67;-1.67;-1.67	4.23	2.06	0.26882	Regulator of G protein signalling superfamily (1);Regulator of G protein signalling-like fold (1);	0.659654	0.13705	N	0.368535	D	0.82857	0.5128	L	0.36672	1.1	0.25653	N	0.986078	D;D;D;D;D	0.89917	0.999;0.995;0.998;0.996;1.0	P;P;P;P;D	0.73380	0.867;0.501;0.721;0.655;0.98	T	0.70085	-0.4969	10	0.87932	D	0	-14.5144	2.5752	0.04805	0.1964:0.5095:0.1897:0.1044	.	69;69;54;54;114	Q6NX52;Q92888-3;Q92888-2;Q92888;Q8NF33	.;.;.;ARHG1_HUMAN;.	W	54;54;90;69;69	ENSP00000346532:R54W;ENSP00000344429:R54W;ENSP00000337261:R69W;ENSP00000367394:R69W	ENSP00000323044:R90W	R	+	1	2	ARHGEF1	47084711	0.137000	0.22531	0.998000	0.56505	0.992000	0.81027	0.168000	0.16622	1.119000	0.41883	0.585000	0.79938	CGG		0.647	ARHGEF1-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000463360.1	NM_199002		25	36	0	0	0	1	0	25	36					T	42392871	C	T	42392871	3	4	313	1	0	0	0	0	1	0	0	0	893	759	27	1	219	1	ARHGEF1	19	42392871	Missense_Mutation	SNP	C	TCGA-KK-A6E2-01A-11D-A30X-08	22961584	42392871	16736112	53	16108											
BCAT2	587	broad.mit.edu	37	chr19	49299745	49299745	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcaggcccattttccatggtGggaatgtggaggttctggga	7	12	15	7	0	2	0	1	0	1	0	3	3	3	3	2	6	0	1	2	6	1	3			TCGA-KK-A6E2-01A-11D-A30X-08	TCGA-KK-A6E2-11A-21D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de2a74cb-41dc-42b1-831b-160074fee3b9	f6ecbcaa-aa62-4d04-afab-2d9e24ff0bbb	g.chr19:49299745G>A	ENST00000316273.6	-	10	1092	c.1080C>T	c.(1078-1080)ccC>ccT	p.P360P	BCAT2_ENST00000597011.1_Silent_p.P320P|BCAT2_ENST00000402551.1_Silent_p.P320P|BCAT2_ENST00000598162.1_Silent_p.P360P|BCAT2_ENST00000599246.1_Silent_p.P268P|BCAT2_ENST00000545387.2_Silent_p.P268P	NM_001190.3	NP_001181.2	O15382	BCAT2_HUMAN	branched chain amino-acid transaminase 2, mitochondrial	360					branched-chain amino acid biosynthetic process (GO:0009082)|branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|isoleucine catabolic process (GO:0006550)|leucine metabolic process (GO:0006551)|regulation of hormone levels (GO:0010817)|small molecule metabolic process (GO:0044281)|valine metabolic process (GO:0006573)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	branched-chain-amino-acid transaminase activity (GO:0004084)|L-isoleucine transaminase activity (GO:0052656)|L-leucine transaminase activity (GO:0052654)|L-valine transaminase activity (GO:0052655)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)	12		all_epithelial(76;7e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000138)|all cancers(93;0.000366)|Epithelial(262;0.0195)|GBM - Glioblastoma multiforme(486;0.0224)	L-Isoleucine(DB00167)|L-Leucine(DB00149)	TTTCCATGGTGGGAATGTGGA	0.607																																						ENST00000402551.1																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)	12						c.(958-960)ccC>ccT		branched chain amino-acid transaminase 2, mitochondrial	L-Glutamic Acid(DB00142)|L-Isoleucine(DB00167)|L-Leucine(DB00149)|Pyridoxal Phosphate(DB00114)						126	109	115					19																	49299745		2203	4300	6503	SO:0001819	synonymous_variant	587					mitochondrial matrix	L-isoleucine transaminase activity|L-leucine transaminase activity|L-valine transaminase activity	g.chr19:49299745G>A	U68418	CCDS12735.1, CCDS54290.1, CCDS74416.1	19q13.33	2013-09-20	2010-05-07		ENSG00000105552	ENSG00000105552	2.6.1.42		977	protein-coding gene	gene with protein product		113530	"branched chain aminotransferase 2, mitochondrial"	BCT2		9165094	Standard	NM_001190		Approved	BCAM	uc002pkr.3	O15382	OTTHUMG00000183327	ENST00000316273.6:c.1080C>T	19.37:g.49299745G>A						BCAT2_ENST00000545387.2_Silent_p.P268P|BCAT2_ENST00000316273.6_Silent_p.P360P|BCAT2_ENST00000598162.1_Silent_p.P360P|BCAT2_ENST00000599246.1_Silent_p.P268P|BCAT2_ENST00000597011.1_Silent_p.P320P	p.P320P			O15382	BCAT2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000138)|all cancers(93;0.000366)|Epithelial(262;0.0195)|GBM - Glioblastoma multiforme(486;0.0224)	11	1580	-		all_epithelial(76;7e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)	360					B2RB87|O00269|Q96KG1|Q9BTB6|Q9BUU6	Silent	SNP	ENST00000316273.6	37	c.960C>T	CCDS12735.1																																																																																				0.607	BCAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466202.1			33	78	0	0	0	1	0	33	78					A	49299745	G	A	49299745	2	1	313	1	0	0	0	0	0	0	0	1	1355	1335	47	3		3	BCAT2	19	49299745	Silent	SNP	G	TCGA-KK-A6E2-01A-11D-A30X-08	6906874	49299745	9829238	54	16109											
TULP2	7288	broad.mit.edu	37	chr19	49387100	49387100	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggccccaggtatcctaagaCgttgggctcctgggggtatt	7	10	14	10	1	0	1	0	0	0	1	2	1	2	1	4	5	0	4	4	5	3	5			TCGA-KK-A6E2-01A-11D-A30X-08	TCGA-KK-A6E2-11A-21D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de2a74cb-41dc-42b1-831b-160074fee3b9	f6ecbcaa-aa62-4d04-afab-2d9e24ff0bbb	g.chr19:49387100C>T	ENST00000221399.3	-	11	1330	c.1186G>A	c.(1186-1188)Gtc>Atc	p.V396I		NM_003323.2	NP_003314.2	O00295	TULP2_HUMAN	tubby like protein 2	396					visual perception (GO:0007601)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)	protein complex binding (GO:0032403)			NS(1)|breast(2)|central_nervous_system(2)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(2)	22		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000259)|all cancers(93;0.000435)|Epithelial(262;0.0221)|GBM - Glioblastoma multiforme(486;0.0234)		TATCCTAAGACGTTGGGCTCC	0.517																																						ENST00000221399.3																			0				NS(1)|breast(2)|central_nervous_system(2)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(2)	22						c.(1186-1188)Gtc>Atc		tubby like protein 2							96	94	95					19																	49387100		2203	4300	6503	SO:0001583	missense	7288				visual perception	cytoplasm|extracellular region		g.chr19:49387100C>T	U82469	CCDS12739.1	19q13.1	2009-08-06			ENSG00000104804	ENSG00000104804			12424	protein-coding gene	gene with protein product	"cancer/testis antigen 65"	602309				9096357	Standard	NM_003323		Approved	TUBL2, CT65	uc002pkz.2	O00295	OTTHUMG00000164406	ENST00000221399.3:c.1186G>A	19.37:g.49387100C>T	ENSP00000221399:p.Val396Ile						p.V396I	NM_003323.2	NP_003314.2	O00295	TULP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000259)|all cancers(93;0.000435)|Epithelial(262;0.0221)|GBM - Glioblastoma multiforme(486;0.0234)	11	1330	-		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)	396					Q8TC50	Missense_Mutation	SNP	ENST00000221399.3	37	c.1186G>A	CCDS12739.1	.	.	.	.	.	.	.	.	.	.	C	7.440	0.640520	0.14386	.	.	ENSG00000104804	ENST00000221399	D	0.97352	-4.35	4.91	-0.961	0.10337	Tubby, C-terminal (4);	0.197895	0.42682	N	0.000661	D	0.92054	0.7482	L	0.28776	0.89	0.32708	N	0.511951	B	0.22080	0.064	B	0.17098	0.017	D	0.86199	0.1617	10	0.42905	T	0.14	-19.3103	9.5057	0.39044	0.0:0.6221:0.0:0.3779	.	396	O00295	TULP2_HUMAN	I	396	ENSP00000221399:V396I	ENSP00000221399:V396I	V	-	1	0	TULP2	54078912	0.167000	0.22975	0.073000	0.20177	0.000000	0.00434	0.335000	0.19806	-0.113000	0.11958	-1.126000	0.01995	GTC		0.517	TULP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378633.1	NM_003323		9	42	0	0	0	1	0	9	42					T	49387100	C	T	49387100	3	4	313	1	0	0	0	0	1	0	0	0	16771	536	19	1	388	1	TULP2	19	49387100	Missense_Mutation	SNP	C	TCGA-KK-A6E2-01A-11D-A30X-08	87355	49387100	9741883	55	16110											
KLK13	26085	broad.mit.edu	37	chr19	51563757	51563757	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gactcccccacagagtagccGcccttgcactagtagggcag	9	6	11	15	1	0	1	0	0	0	1	1	2	1	1	4	1	2	4	4	1	3	4	rs200725984		TCGA-KK-A6E2-01A-11D-A30X-08	TCGA-KK-A6E2-11A-21D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de2a74cb-41dc-42b1-831b-160074fee3b9	f6ecbcaa-aa62-4d04-afab-2d9e24ff0bbb	g.chr19:51563757G>A	ENST00000595793.1	-	2	214	c.172C>T	c.(172-174)Cgg>Tgg	p.R58W	KLK13_ENST00000335422.3_Intron|KLK13_ENST00000596955.1_Missense_Mutation_p.R58W|KLK13_ENST00000595547.1_Missense_Mutation_p.R58W	NM_015596.1	NP_056411.1	Q9UKR3	KLK13_HUMAN	kallikrein-related peptidase 13	58	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				protein processing (GO:0016485)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|secretory granule (GO:0030141)	hydrolase activity (GO:0016787)|serine-type endopeptidase activity (GO:0004252)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|skin(1)	16		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00224)|GBM - Glioblastoma multiforme(134;0.00432)		CAGAGTAGCCGCCCTTGCACT	0.617																																						ENST00000595793.1																			0				central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|skin(1)	16						c.(172-174)Cgg>Tgg		kallikrein-related peptidase 13		G	TRP/ARG	0,4406		0,0,2203	74	76	75		172	3.9	1	19		75	1,8599		0,1,4299	no	missense	KLK13	NM_015596.1	101	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	58/278	51563757	1,13005	2203	4300	6503	SO:0001583	missense	26085				proteolysis		protein binding|serine-type endopeptidase activity	g.chr19:51563757G>A		CCDS12822.1	19q13.33	2008-02-05	2006-10-27			ENSG00000167759		"Kallikreins"	6361	protein-coding gene	gene with protein product		605505	"kallikrein 13"			16800724, 16800723	Standard	NM_015596		Approved	KLK-L4	uc002pvn.3	Q9UKR3		ENST00000595793.1:c.172C>T	19.37:g.51563757G>A	ENSP00000470555:p.Arg58Trp					KLK13_ENST00000335422.3_Intron|KLK13_ENST00000595547.1_Missense_Mutation_p.R58W|KLK13_ENST00000596955.1_Missense_Mutation_p.R58W	p.R58W	NM_015596.1	NP_056411.1	Q9UKR3	KLK13_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00224)|GBM - Glioblastoma multiforme(134;0.00432)	2	214	-		all_neural(266;0.026)	58			Peptidase S1.		A7UNK6|Q86VI8|Q9Y433	Missense_Mutation	SNP	ENST00000595793.1	37	c.172C>T	CCDS12822.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	18.29|18.29	3.592015|3.592015	0.66219|0.66219	0.0|0.0	1.16E-4|1.16E-4	ENSG00000167759|ENSG00000167759	ENST00000376799|ENST00000156476	.|D	.|0.89196	.|-2.48	3.88|3.88	3.88|3.88	0.44766|0.44766	.|Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	.|0.342128	.|0.21374	.|N	.|0.075582	D|D	0.91016|0.91016	0.7174|0.7174	M|M	0.71871|0.71871	2.18|2.18	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|1.0;0.999;0.999	.|P;P;P	.|0.58928	.|0.848;0.828;0.749	D|D	0.89858|0.89858	0.4014|0.4014	6|10	0.87932|0.46703	D|T	0|0.11	.|.	7.5387|7.5387	0.27725|0.27725	0.1192:0.0:0.8808:0.0|0.1192:0.0:0.8808:0.0	.|.	.|58;58;58	.|Q86VI7;B5BUM9;Q9UKR3	.|.;.;KLK13_HUMAN	V|W	59|58	.|ENSP00000156476:R58W	ENSP00000365995:A59V|ENSP00000156476:R58W	A|R	-|-	2|1	0|2	KLK13|KLK13	56255569|56255569	0.002000|0.002000	0.14202|0.14202	0.992000|0.992000	0.48379|0.48379	0.980000|0.980000	0.70556|0.70556	1.202000|1.202000	0.32271|0.32271	2.166000|2.166000	0.68216|0.68216	0.609000|0.609000	0.83330|0.83330	GCG|CGG		0.617	KLK13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464298.2	NM_015596		25	80	0	0	0	1	0	25	80					A	51563757	G	A	51563757	3	1	313	1	0	0	0	0	1	0	0	0	8401	1086	38	1	677	1	KLK13	19	51563757	Missense_Mutation	SNP	G	TCGA-KK-A6E2-01A-11D-A30X-08	2176657	51563757	7565226	56	16111											
SF3A1	10291	broad.mit.edu	37	chr22	30735202	30735202	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	accgaagatgtcagtacgccGctcagccaactgcttcaagc	11	7	9	14	3	3	1	3	0	0	1	3	2	3	1	3	0	5	3	3	0	4	2			TCGA-KK-A6E2-01A-11D-A30X-08	TCGA-KK-A6E2-11A-21D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de2a74cb-41dc-42b1-831b-160074fee3b9	f6ecbcaa-aa62-4d04-afab-2d9e24ff0bbb	g.chr22:30735202G>A	ENST00000215793.8	-	10	1568	c.1414C>T	c.(1414-1416)Cgg>Tgg	p.R472W	SF3A1_ENST00000439242.1_Missense_Mutation_p.R407W	NM_005877.4	NP_005868.1	Q15459	SF3A1_HUMAN	splicing factor 3a, subunit 1, 120kDa	472					gene expression (GO:0010467)|mRNA 3'-splice site recognition (GO:0000389)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U2-type spliceosomal complex (GO:0005684)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|urinary_tract(1)	29						TCAGTACGCCGCTCAGCCAAC	0.483																																						ENST00000439242.1																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|urinary_tract(1)	29						c.(1219-1221)Cgg>Tgg		splicing factor 3a, subunit 1, 120kDa							184	158	166					22																	30735202		2203	4300	6503	SO:0001583	missense	10291				nuclear mRNA 3'-splice site recognition	catalytic step 2 spliceosome|nucleoplasm|U2-type spliceosomal complex	protein binding|RNA binding	g.chr22:30735202G>A	X85237	CCDS13875.1	22q12.2	2014-09-17	2002-08-29		ENSG00000099995	ENSG00000099995			10765	protein-coding gene	gene with protein product		605595	"splicing factor 3a, subunit 1, 120kD"			7489498	Standard	NM_005877		Approved	SF3a120, SAP114, PRPF21, Prp21	uc003ahl.3	Q15459	OTTHUMG00000151005	ENST00000215793.8:c.1414C>T	22.37:g.30735202G>A	ENSP00000215793:p.Arg472Trp					SF3A1_ENST00000215793.7_Missense_Mutation_p.R472W	p.R407W	NM_001005409.1	NP_001005409.1	Q15459	SF3A1_HUMAN			10	1350	-			472					E9PAW1	Missense_Mutation	SNP	ENST00000215793.8	37	c.1219C>T	CCDS13875.1	.	.	.	.	.	.	.	.	.	.	G	17.97	3.518522	0.64634	.	.	ENSG00000099995	ENST00000439242;ENST00000215793;ENST00000536049	T;T	0.34472	1.36;1.37	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	T	0.67277	0.2876	M	0.85859	2.78	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	T	0.70494	-0.4856	10	0.87932	D	0	-22.8982	20.3248	0.98698	0.0:0.0:1.0:0.0	.	472	Q15459	SF3A1_HUMAN	W	407;472;369	ENSP00000390336:R407W;ENSP00000215793:R472W	ENSP00000215793:R472W	R	-	1	2	SF3A1	29065202	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	7.248000	0.78268	2.818000	0.97014	0.655000	0.94253	CGG		0.483	SF3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320916.2	NM_005877		67	91	0	0	0	1	0	67	91					A	30735202	G	A	30735202	3	1	313	1	0	0	0	0	1	0	0	0	14146	1086	38	1	995	1	SF3A1	22	30735202	Missense_Mutation	SNP	G	TCGA-KK-A6E2-01A-11D-A30X-08		30735202	20569364	57	16112											
ZMYM3	9203	broad.mit.edu	37	chrX	70465273	70465273	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	catggccaggacatcatctcGagcaggcccaaacaggtcac	12	5	10	14	1	3	0	2	0	1	0	4	2	3	1	2	4	2	1	2	4	1	0			TCGA-KK-A6E2-01A-11D-A30X-08	TCGA-KK-A6E2-11A-21D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de2a74cb-41dc-42b1-831b-160074fee3b9	f6ecbcaa-aa62-4d04-afab-2d9e24ff0bbb	g.chrX:70465273G>A	ENST00000353904.2	-	18	3110	c.2923C>T	c.(2923-2925)Cga>Tga	p.R975*	ZMYM3_ENST00000373998.1_Nonsense_Mutation_p.R963*|ZMYM3_ENST00000314425.5_Nonsense_Mutation_p.R975*|ZMYM3_ENST00000489332.1_5'UTR|ZMYM3_ENST00000373984.3_Nonsense_Mutation_p.R977*|ZMYM3_ENST00000373988.1_Nonsense_Mutation_p.R977*	NM_005096.3	NP_005087.1	Q14202	ZMYM3_HUMAN	zinc finger, MYM-type 3	975					cytoskeleton organization (GO:0007010)|multicellular organismal development (GO:0007275)|regulation of cell morphogenesis (GO:0022604)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(7)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(17)|ovary(1)|prostate(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(35;0.156)					ACATCATCTCGAGCAGGCCCA	0.532																																						ENST00000373998.1																			0				breast(1)|central_nervous_system(7)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(17)|ovary(1)|prostate(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						c.(2887-2889)Cga>Tga		zinc finger, MYM-type 3							115	73	87					X																	70465273		2203	4300	6503	SO:0001587	stop_gained	9203				multicellular organismal development	nucleus	DNA binding|zinc ion binding	g.chrX:70465273G>A	AB002383	CCDS14409.1, CCDS55443.1, CCDS55444.1	Xq13.1	2013-01-08	2005-12-19	2005-12-19	ENSG00000147130	ENSG00000147130		"Zinc fingers, MYM type"	13054	protein-coding gene	gene with protein product		300061	"zinc finger protein 261"	ZNF261		10486218	Standard	NM_201599		Approved	ZNF198L2, DXS6673E, KIAA0385, MYM	uc004dzh.2	Q14202	OTTHUMG00000021799	ENST00000353904.2:c.2923C>T	X.37:g.70465273G>A	ENSP00000343909:p.Arg975*					ZMYM3_ENST00000373984.3_Nonsense_Mutation_p.R977*|ZMYM3_ENST00000314425.5_Nonsense_Mutation_p.R975*|ZMYM3_ENST00000353904.2_Nonsense_Mutation_p.R975*|ZMYM3_ENST00000489332.1_5'UTR|ZMYM3_ENST00000373988.1_Nonsense_Mutation_p.R977*	p.R963*	NM_001171162.1	NP_001164633.1	Q14202	ZMYM3_HUMAN			18	3584	-	Renal(35;0.156)		975					D3DVV3|O15089|Q96E26	Nonsense_Mutation	SNP	ENST00000353904.2	37	c.2887C>T	CCDS14409.1	.	.	.	.	.	.	.	.	.	.	g	46	12.301781	0.99655	.	.	ENSG00000147130	ENST00000314425;ENST00000373998;ENST00000353904;ENST00000373984;ENST00000373988	.	.	.	5.53	2.53	0.30540	.	0.000000	0.64402	D	0.000007	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.08599	T	0.76	-6.4608	14.9899	0.71377	0.0:0.0:0.5504:0.4495	.	.	.	.	X	975;963;975;977;977	.	ENSP00000322845:R975X	R	-	1	2	ZMYM3	70381998	0.452000	0.25713	0.996000	0.52242	0.998000	0.95712	0.545000	0.23268	0.654000	0.30846	0.597000	0.82753	CGA		0.532	ZMYM3-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000057154.1	NM_201599		10	9	0	0	0	1	0	10	9					A	70465273	G	A	70465273	4	1	313	1	0	0	0	0	0	1	0	0	17698	1066	37	2	1221	2	ZMYM3	23	70465273	Nonsense_Mutation	SNP	G	TCGA-KK-A6E2-01A-11D-A30X-08		70465273	84805287	58	16113											
RAB13	5872	broad.mit.edu	37	chr1	153958656	153958656	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atgatcagacaagtcttgccCacccccgagtccccgatcag	10	7	8	16	2	3	2	2	1	1	1	4	4	4	2	5	0	1	0	5	0	1	1			TCGA-KK-A6E3-01A-21D-A30E-08	TCGA-KK-A6E3-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1106f74-3476-405d-93ad-b718d7f393bc	ee4e1c2b-7911-4e58-a5c2-5211c8d6ef54	g.chr1:153958656C>T	ENST00000368575.3	-	1	172	c.57G>A	c.(55-57)gtG>gtA	p.V19V	RAB13_ENST00000462680.1_5'UTR	NM_002870.2	NP_002861.1	P51153	RAB13_HUMAN	RAB13, member RAS oncogene family	19					cellular response to insulin stimulus (GO:0032869)|cortical actin cytoskeleton organization (GO:0030866)|endocytic recycling (GO:0032456)|endosomal transport (GO:0016197)|endothelial cell chemotaxis (GO:0035767)|establishment of protein localization to plasma membrane (GO:0090002)|establishment of Sertoli cell barrier (GO:0097368)|GTP catabolic process (GO:0006184)|membrane organization (GO:0061024)|neuron projection development (GO:0031175)|protein kinase A signaling (GO:0010737)|protein localization to cell leading edge (GO:1902463)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)|tight junction assembly (GO:0070830)|trans-Golgi network to recycling endosome transport (GO:0044795)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytoplasmic vesicle membrane (GO:0030659)|endocytic vesicle (GO:0030139)|extracellular vesicular exosome (GO:0070062)|insulin-responsive compartment (GO:0032593)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)|tight junction (GO:0005923)|trans-Golgi network (GO:0005802)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			breast(1)|endometrium(3)|kidney(1)|lung(5)|urinary_tract(1)	11	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			AAGTCTTGCCCACCCCCGAGT	0.627																																					Ovarian(138;395 2427 24306 43415)	ENST00000368575.3																			0				breast(1)|endometrium(3)|kidney(1)|lung(5)|urinary_tract(1)	11						c.(55-57)gtG>gtA		RAB13, member RAS oncogene family							65	57	60					1																	153958656		2203	4296	6499	SO:0001819	synonymous_variant	5872				cell adhesion|protein transport|small GTPase mediated signal transduction|vesicle-mediated transport	cytoplasmic vesicle membrane|tight junction	GTP binding|GTPase activity	g.chr1:153958656C>T	X75593	CCDS1058.1, CCDS72921.1	1q21.2	2008-02-05			ENSG00000143545	ENSG00000143545		"RAB, member RAS oncogene"	9762	protein-coding gene	gene with protein product		602672				8294494	Standard	NM_002870		Approved		uc001fdt.2	P51153	OTTHUMG00000036589	ENST00000368575.3:c.57G>A	1.37:g.153958656C>T						RAB13_ENST00000462680.1_5'UTR	p.V19V	NM_002870.2	NP_002861.1	P51153	RAB13_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.151)		1	172	-	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		19					A8K6B5|D3DV67|Q5U0A6|Q6GPG6|Q96GU4	Silent	SNP	ENST00000368575.3	37	c.57G>A	CCDS1058.1																																																																																				0.627	RAB13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088992.1	NM_002870		8	26	0	0	0	1	0	8	26					T	153958656	C	T	153958656	2	4	314	1	0	0	0	0	0	0	0	1	12899	581	21	3		3	RAB13	1	153958656	Silent	SNP	C	TCGA-KK-A6E3-01A-21D-A30E-08		153958656	95291965	1	16114											
HMCN1	83872	broad.mit.edu	37	chr1	185939492	185939492	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgagttgaggccctcaacAttcctcattattgaccctct	8	14	6	13	0	3	3	2	3	1	0	4	3	4	3	3	1	1	1	3	1	2	5			TCGA-KK-A6E3-01A-21D-A30E-08	TCGA-KK-A6E3-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1106f74-3476-405d-93ad-b718d7f393bc	ee4e1c2b-7911-4e58-a5c2-5211c8d6ef54	g.chr1:185939492A>T	ENST00000271588.4	+	15	2467	c.2238A>T	c.(2236-2238)acA>acT	p.T746T	HMCN1_ENST00000367492.2_Silent_p.T746T|HMCN1_ENST00000485744.1_3'UTR	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	746	Ig-like C2-type 4.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						GGCCCTCAACATTCCTCATTA	0.383																																						ENST00000271588.4																			0				NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						c.(2236-2238)acA>acT		hemicentin 1							154	168	163					1																	185939492		2203	4300	6503	SO:0001819	synonymous_variant	83872				response to stimulus|visual perception	basement membrane	calcium ion binding	g.chr1:185939492A>T	AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"Fibulins", "Immunoglobulin superfamily / I-set domain containing"	19194	protein-coding gene	gene with protein product	"fibulin 6"	608548	"age-related macular degeneration 1 (senile macular degeneration)"	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.2238A>T	1.37:g.185939492A>T						HMCN1_ENST00000367492.2_Silent_p.T746T|HMCN1_ENST00000485744.1_3'UTR	p.T746T	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN			15	2467	+			746			Ig-like C2-type 4.		A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Silent	SNP	ENST00000271588.4	37	c.2238A>T	CCDS30956.1																																																																																				0.383	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935		7	177	0	0	0	1	0	7	177					T	185939492	A	T	185939492	2	4	314	1	0	0	0	0	0	0	0	1	7220	204	8	5		5	HMCN1	1	185939492	Silent	SNP	A	TCGA-KK-A6E3-01A-21D-A30E-08	31980836	185939492	63311129	2	16115											
CR1L	1379	broad.mit.edu	37	chr1	207818584	207818584	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctcccgcgccgctcatggcGcctcccgtccgtctcgagcg	2	8	11	20	8	3	0	1	0	2	0	7	1	5	0	5	1	1	1	5	1	0	0			TCGA-KK-A6E3-01A-21D-A30E-08	TCGA-KK-A6E3-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1106f74-3476-405d-93ad-b718d7f393bc	ee4e1c2b-7911-4e58-a5c2-5211c8d6ef54	g.chr1:207818584G>T	ENST00000508064.2	+	1	66	c.6G>T	c.(4-6)gcG>gcT	p.A2A		NM_175710.1	NP_783641.1	Q2VPA4	CR1L_HUMAN	complement component (3b/4b) receptor 1-like	2						cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)|receptor complex (GO:0043235)				endometrium(1)|kidney(1)|large_intestine(2)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						CGCTCATGGCGCCTCCCGTCC	0.637																																						ENST00000508064.2																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						c.(4-6)gcG>gcT		complement component (3b/4b) receptor 1-like							56	62	60					1																	207818584		2203	4300	6503	SO:0001819	synonymous_variant	1379					cytoplasm|extracellular region|membrane		g.chr1:207818584G>T	AY114160	CCDS44310.1	1q32.1	2008-02-05			ENSG00000197721	ENSG00000197721		"Complement system"	2335	protein-coding gene	gene with protein product		605886				2295627	Standard	NM_175710		Approved		uc001hga.4	Q2VPA4	OTTHUMG00000036354	ENST00000508064.2:c.6G>T	1.37:g.207818584G>T							p.A2A	NM_175710.1	NP_783641.1	Q2VPA4	CR1L_HUMAN			1	66	+			2					Q32MC9|Q8NEU7	Silent	SNP	ENST00000508064.2	37	c.6G>T	CCDS44310.1																																																																																				0.637	CR1L-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390247.1	XM_114735		5	88	1	0	0.000602214	1	0.000638712	5	88					T	207818584	G	T	207818584	2	4	314	1	0	0	0	0	0	0	0	1	3841	1074	38	5		5	CR1L	1	207818584	Silent	SNP	G	TCGA-KK-A6E3-01A-21D-A30E-08	21879092	207818584	41432037	3	16116											
LRP1B	53353	broad.mit.edu	37	chr2	141607757	141607757	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatctgtccagtataaacgtTcctcagatgcatcgaagtct	11	13	7	10	2	3	1	1	0	2	1	6	2	5	1	2	0	2	3	2	0	5	4			TCGA-KK-A6E3-01A-21D-A30E-08	TCGA-KK-A6E3-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1106f74-3476-405d-93ad-b718d7f393bc	ee4e1c2b-7911-4e58-a5c2-5211c8d6ef54	g.chr2:141607757T>A	ENST00000389484.3	-	29	5824	c.4853A>T	c.(4852-4854)gAa>gTa	p.E1618V		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	1618					protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		GTATAAACGTTCCTCAGATGC	0.363										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	ENST00000389484.3																			0				NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606						c.(4852-4854)gAa>gTa		low density lipoprotein receptor-related protein 1B							191	189	190					2																	141607757		2203	4300	6503	SO:0001583	missense	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141607757T>A	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"Low density lipoprotein receptors"	6693	protein-coding gene	gene with protein product	"LRP-deleted in tumors"	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.4853A>T	2.37:g.141607757T>A	ENSP00000374135:p.Glu1618Val	TSP Lung(27;0.18)					p.E1618V	NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)	29	5824	-		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)	1618					Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	c.4853A>T	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	T	25.8	4.675140	0.88445	.	.	ENSG00000168702	ENST00000389484;ENST00000544579;ENST00000434794	D;T	0.91521	-2.86;1.49	5.32	5.32	0.75619	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.64402	U	0.000001	D	0.93006	0.7774	M	0.68952	2.095	0.47183	D	0.99934	D;D	0.58970	0.97;0.984	P;P	0.57009	0.811;0.773	D	0.92250	0.5808	10	0.35671	T	0.21	.	15.2862	0.73831	0.0:0.0:0.0:1.0	.	801;1618	Q96NT6;Q9NZR2	.;LRP1B_HUMAN	V	1618;1556;763	ENSP00000374135:E1618V;ENSP00000413239:E763V	ENSP00000374135:E1618V	E	-	2	0	LRP1B	141324227	1.000000	0.71417	1.000000	0.80357	0.924000	0.55760	7.992000	0.88273	2.029000	0.59856	0.260000	0.18958	GAA		0.363	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		7	65	0	0	0	1	0	7	65					A	141607757	T	A	141607757	3	1	314	1	0	0	0	0	1	0	0	0	8955	1783	62	5	9198	5	LRP1B	2	141607757	Missense_Mutation	SNP	T	TCGA-KK-A6E3-01A-21D-A30E-08		141607757	101591616	4	16117											
COL6A3	1293	broad.mit.edu	37	chr2	238274427	238274427	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gacgtaggggtgctggctgcGcatgttccggaacttctcga	6	10	15	10	4	1	0	0	0	1	0	3	3	2	1	1	4	3	5	1	4	2	3			TCGA-KK-A6E3-01A-21D-A30E-08	TCGA-KK-A6E3-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1106f74-3476-405d-93ad-b718d7f393bc	ee4e1c2b-7911-4e58-a5c2-5211c8d6ef54	g.chr2:238274427G>A	ENST00000295550.4	-	12	6204	c.5752C>T	c.(5752-5754)Cgc>Tgc	p.R1918C	COL6A3_ENST00000346358.4_Missense_Mutation_p.R1718C|COL6A3_ENST00000409809.1_Missense_Mutation_p.R1712C|COL6A3_ENST00000353578.4_Missense_Mutation_p.R1712C|COL6A3_ENST00000472056.1_Missense_Mutation_p.R1311C|COL6A3_ENST00000347401.3_Missense_Mutation_p.R1717C	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	1918	Nonhelical region.|VWFA 10. {ECO:0000255|PROSITE- ProRule:PRU00219}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|response to glucose (GO:0009749)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		TGCTGGCTGCGCATGTTCCGG	0.617																																						ENST00000295550.4																			0				breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217						c.(5752-5754)Cgc>Tgc		collagen, type VI, alpha 3							82	77	79					2																	238274427		2203	4300	6503	SO:0001583	missense	1293				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity	g.chr2:238274427G>A	X52022	CCDS33409.1, CCDS33410.1, CCDS33411.1, CCDS33412.1, CCDS33410.2, CCDS33411.2, CCDS54439.1	2q37	2014-09-17			ENSG00000163359	ENSG00000163359		"Collagens"	2213	protein-coding gene	gene with protein product		120250				1339440, 11992252	Standard	NM_004369		Approved		uc002vwl.2	P12111	OTTHUMG00000150020	ENST00000295550.4:c.5752C>T	2.37:g.238274427G>A	ENSP00000295550:p.Arg1918Cys					COL6A3_ENST00000472056.1_Missense_Mutation_p.R1311C|COL6A3_ENST00000409809.1_Missense_Mutation_p.R1712C|COL6A3_ENST00000353578.4_Missense_Mutation_p.R1712C|COL6A3_ENST00000347401.3_Missense_Mutation_p.R1717C|COL6A3_ENST00000346358.4_Missense_Mutation_p.R1718C	p.R1918C	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)	12	6204	-		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)	1918			Nonhelical region.|VWFA 10.		A8MT30|B4E3U5|B7ZMJ7|E9PFQ6|E9PGQ9|Q16501|Q53QF4|Q53QF6	Missense_Mutation	SNP	ENST00000295550.4	37	c.5752C>T	CCDS33412.1	.	.	.	.	.	.	.	.	.	.	G	11.69	1.715185	0.30413	.	.	ENSG00000163359	ENST00000295550;ENST00000347401;ENST00000353578;ENST00000472056;ENST00000409809;ENST00000346358	T;T;T;T;T;T	0.39229	1.09;1.09;1.09;1.09;1.09;1.09	5.34	4.41	0.53225	von Willebrand factor, type A (2);	0.334836	0.21508	N	0.073409	T	0.57080	0.2029	L	0.57536	1.79	0.53688	D	0.999971	D;D;D	0.89917	0.999;1.0;0.999	P;D;P	0.70016	0.893;0.967;0.642	T	0.57820	-0.7745	10	0.72032	D	0.01	.	10.7977	0.46470	0.0:0.1183:0.6653:0.2164	.	1311;1712;1918	E9PFQ6;P12111-2;P12111	.;.;CO6A3_HUMAN	C	1918;1717;1712;1311;1712;1718	ENSP00000295550:R1918C;ENSP00000315609:R1717C;ENSP00000315873:R1712C;ENSP00000418285:R1311C;ENSP00000386844:R1712C;ENSP00000295546:R1718C	ENSP00000295550:R1918C	R	-	1	0	COL6A3	237939166	1.000000	0.71417	1.000000	0.80357	0.849000	0.48306	1.091000	0.30915	2.665000	0.90641	0.655000	0.94253	CGC		0.617	COL6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315790.2	NM_004369		6	112	0	0	0	1	0	6	112					A	238274427	G	A	238274427	3	1	314	1	0	0	0	0	1	0	0	0	3701	1087	38	1	3913	1	COL6A3	2	238274427	Missense_Mutation	SNP	G	TCGA-KK-A6E3-01A-21D-A30E-08	96666670	238274427	4924946	5	16118											
SCN5A	6331	broad.mit.edu	37	chr3	38592968	38592968	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctcggatcagtctgaggatgCggcctattcgggccaggcgg	6	8	16	11	4	2	1	1	1	1	0	4	3	2	3	2	6	1	0	2	6	1	2	rs199473286		TCGA-KK-A6E3-01A-21D-A30E-08	TCGA-KK-A6E3-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1106f74-3476-405d-93ad-b718d7f393bc	ee4e1c2b-7911-4e58-a5c2-5211c8d6ef54	g.chr3:38592968C>T	ENST00000333535.4	-	28	5044	c.4895G>A	c.(4894-4896)cGc>cAc	p.R1632H	SCN5A_ENST00000443581.1_Missense_Mutation_p.R1631H|SCN5A_ENST00000425664.1_Missense_Mutation_p.R1614H|SCN5A_ENST00000450102.2_Missense_Mutation_p.R1578H|SCN5A_ENST00000449557.2_Missense_Mutation_p.R1578H|SCN5A_ENST00000451551.2_Missense_Mutation_p.R1578H|SCN5A_ENST00000413689.1_Missense_Mutation_p.R1632H|SCN5A_ENST00000423572.2_Missense_Mutation_p.R1631H|SCN5A_ENST00000414099.2_Missense_Mutation_p.R1614H|SCN5A_ENST00000455624.2_Missense_Mutation_p.R1599H|SCN5A_ENST00000464652.1_5'Flank			Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	1632					AV node cell to bundle of His cell communication (GO:0086067)|brainstem development (GO:0003360)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cardiac muscle cell action potential involved in contraction (GO:0086002)|cardiac muscle contraction (GO:0060048)|cardiac ventricle development (GO:0003231)|cellular response to calcium ion (GO:0071277)|cerebellum development (GO:0021549)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane depolarization during SA node cell action potential (GO:0086046)|neuronal action potential (GO:0019228)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of action potential (GO:0045760)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of sodium ion transport (GO:0010765)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of sodium ion transmembrane transport (GO:1902305)|regulation of ventricular cardiac muscle cell membrane depolarization (GO:0060373)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|telencephalon development (GO:0021537)|ventricular cardiac muscle cell action potential (GO:0086005)	caveola (GO:0005901)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	ankyrin binding (GO:0030506)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|fibroblast growth factor binding (GO:0017134)|ion channel binding (GO:0044325)|nitric-oxide synthase binding (GO:0050998)|protein kinase binding (GO:0019901)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)|voltage-gated sodium channel activity (GO:0005248)|voltage-gated sodium channel activity involved in cardiac muscle cell action potential (GO:0086006)			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Ajmaline(DB01426)|Aprindine(DB01429)|Benzonatate(DB00868)|Carbamazepine(DB00564)|Cinchocaine(DB00527)|Cocaine(DB00907)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lidocaine(DB00281)|Mexiletine(DB00379)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine barbiturate(DB01346)|Quinidine(DB00908)|Ranolazine(DB00243)|Riluzole(DB00740)|Tocainide(DB01056)|Valproic Acid(DB00313)|Verapamil(DB00661)|Zonisamide(DB00909)	TCTGAGGATGCGGCCTATTCG	0.592																																						ENST00000413689.1																			0				NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	GRCh37	CM033023	SCN5A	M		c.(4894-4896)cGc>cAc		sodium channel, voltage-gated, type V, alpha subunit	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)						97	99	98					3																	38592968		2203	4300	6503	SO:0001583	missense	6331				blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity	g.chr3:38592968C>T	AJ310893	CCDS46796.1, CCDS46797.1, CCDS46798.1, CCDS46799.1, CCDS54569.1, CCDS54570.1	3p21	2014-09-17	2007-01-23		ENSG00000183873	ENSG00000183873		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10593	protein-coding gene	gene with protein product	"long QT syndrome 3"	600163	"sodium channel, voltage-gated, type V, alpha (long QT syndrome 3)"	CMD1E		7842012, 15466643, 16382098	Standard	NM_198056		Approved	Nav1.5, LQT3, HB1, HBBD, PFHB1, IVF, HB2, HH1, SSS1, CDCD2, CMPD2, ICCD	uc021wvl.1	Q14524	OTTHUMG00000156166	ENST00000333535.4:c.4895G>A	3.37:g.38592968C>T	ENSP00000328968:p.Arg1632His					SCN5A_ENST00000443581.1_Missense_Mutation_p.R1631H|SCN5A_ENST00000423572.2_Missense_Mutation_p.R1631H|SCN5A_ENST00000414099.2_Missense_Mutation_p.R1614H|SCN5A_ENST00000451551.2_Missense_Mutation_p.R1578H|SCN5A_ENST00000333535.4_Missense_Mutation_p.R1632H|SCN5A_ENST00000455624.2_Missense_Mutation_p.R1599H|SCN5A_ENST00000450102.2_Missense_Mutation_p.R1578H|SCN5A_ENST00000449557.2_Missense_Mutation_p.R1578H|SCN5A_ENST00000425664.1_Missense_Mutation_p.R1614H	p.R1632H	NM_001099404.1|NM_001160160.1	NP_001092874.1|NP_001153632.1	Q14524	SCN5A_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	28	5088	-	Medulloblastoma(35;0.163)		1632					A5H1P8|A6N922|A6N923|B2RTU0|E7ET19|E9PEF3|E9PEK2|E9PFW7|Q59H93|Q75RX9|Q75RY0|Q86UR3|Q8IZC9|Q96J69	Missense_Mutation	SNP	ENST00000333535.4	37	c.4895G>A	CCDS46796.1	.	.	.	.	.	.	.	.	.	.	C	24.1	4.498866	0.85069	.	.	ENSG00000183873	ENST00000414099;ENST00000423572;ENST00000413689;ENST00000451551;ENST00000443581;ENST00000425664;ENST00000333535;ENST00000455624;ENST00000450102;ENST00000449557	D;D;D;D;D;D;D;D;D;D	0.99591	-6.24;-6.24;-6.24;-6.24;-6.24;-6.24;-6.24;-6.24;-6.24;-6.24	4.54	4.54	0.55810	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99792	0.9912	H	0.97315	3.98	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;0.998;1.0;0.987	D;D;D;D;D;P	0.87578	0.997;0.998;0.997;0.948;0.994;0.728	D	0.96728	0.9537	10	0.87932	D	0	.	17.4903	0.87701	0.0:1.0:0.0:0.0	.	1578;1599;1614;1632;1631;1632	E9PEF3;E9PHB6;E9PG18;Q14524;Q14524-2;E9PEK2	.;.;.;SCN5A_HUMAN;.;.	H	1614;1631;1632;1578;1631;1614;1632;1599;1578;1578	ENSP00000398962:R1614H;ENSP00000398266:R1631H;ENSP00000410257:R1632H;ENSP00000388797:R1578H;ENSP00000397915:R1631H;ENSP00000416634:R1614H;ENSP00000328968:R1632H;ENSP00000399524:R1599H;ENSP00000403355:R1578H;ENSP00000413996:R1578H	ENSP00000328968:R1632H	R	-	2	0	SCN5A	38567972	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.835000	0.69368	2.353000	0.79882	0.561000	0.74099	CGC		0.592	SCN5A-014	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000377958.1	NM_198056		4	159	0	0	0	1	0	4	159					T	38592968	C	T	38592968	3	4	314	1	0	0	0	0	1	0	0	0	13922	768	27	1	1159	1	SCN5A	3	38592968	Missense_Mutation	SNP	C	TCGA-KK-A6E3-01A-21D-A30E-08		38592968	159429462	6	16119											
POLQ	10721	broad.mit.edu	37	chr3	121192246	121192246	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttagcttgcgtccattgtcaAtccctcttctggtagaaccc	7	14	7	13	1	3	1	1	0	2	1	5	1	5	1	3	1	3	2	3	1	4	5			TCGA-KK-A6E3-01A-21D-A30E-08	TCGA-KK-A6E3-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1106f74-3476-405d-93ad-b718d7f393bc	ee4e1c2b-7911-4e58-a5c2-5211c8d6ef54	g.chr3:121192246A>T	ENST00000264233.5	-	21	6622	c.6494T>A	c.(6493-6495)aTt>aAt	p.I2165N		NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN	polymerase (DNA directed), theta	2165					ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)	nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|damaged DNA binding (GO:0003684)|DNA-directed DNA polymerase activity (GO:0003887)|single-stranded DNA-dependent ATPase activity (GO:0043142)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		TCCATTGTCAATCCCTCTTCT	0.443								DNA polymerases (catalytic subunits)																													Pancreas(152;907 1925 26081 31236 36904)	ENST00000264233.5																			0				NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120						c.(6493-6495)aTt>aAt	DNA polymerases (catalytic subunits)	polymerase (DNA directed), theta							219	210	213					3																	121192246		2203	4300	6503	SO:0001583	missense	10721				DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity	g.chr3:121192246A>T	AF052573	CCDS33833.1	3q13.3	2012-05-18			ENSG00000051341	ENSG00000051341	2.7.7.7	"DNA polymerases"	9186	protein-coding gene	gene with protein product		604419				10395804	Standard	NM_199420		Approved	POLH	uc003eee.4	O75417	OTTHUMG00000159396	ENST00000264233.5:c.6494T>A	3.37:g.121192246A>T	ENSP00000264233:p.Ile2165Asn						p.I2165N	NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN		GBM - Glioblastoma multiforme(114;0.0915)	21	6622	-			2165					O95160|Q6VMB5	Missense_Mutation	SNP	ENST00000264233.5	37	c.6494T>A	CCDS33833.1	.	.	.	.	.	.	.	.	.	.	A	2.186	-0.386540	0.04966	.	.	ENSG00000051341	ENST00000543272;ENST00000264233;ENST00000393672	T	0.48201	0.82	5.89	-8.89	0.00785	.	0.935133	0.09074	N	0.852378	T	0.10937	0.0267	N	0.00841	-1.15	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.19647	-1.0299	10	0.22706	T	0.39	.	2.5782	0.04812	0.3753:0.1145:0.3587:0.1515	.	2165;1337	O75417;O75417-2	DPOLQ_HUMAN;.	N	1788;2165;2301	ENSP00000264233:I2165N	ENSP00000264233:I2165N	I	-	2	0	POLQ	122674936	0.000000	0.05858	0.236000	0.24074	0.947000	0.59692	-1.160000	0.03147	-0.795000	0.04462	-0.360000	0.07572	ATT		0.443	POLQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355097.1	NM_199420		20	231	0	0	0	1	0	20	231					T	121192246	A	T	121192246	3	4	314	1	0	0	0	0	1	0	0	0	12208	101	4	5	1318	5	POLQ	3	121192246	Missense_Mutation	SNP	A	TCGA-KK-A6E3-01A-21D-A30E-08	82599278	121192246	76830184	7	16120											
POLQ	10721	broad.mit.edu	37	chr3	121206355	121206355	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	actgtaatccatcctgtgatAactgaagtgaaaagcttgtg	13	12	9	7	0	0	3	0	3	0	0	2	3	2	3	2	0	2	2	2	0	5	3			TCGA-KK-A6E3-01A-21D-A30E-08	TCGA-KK-A6E3-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1106f74-3476-405d-93ad-b718d7f393bc	ee4e1c2b-7911-4e58-a5c2-5211c8d6ef54	g.chr3:121206355A>G	ENST00000264233.5	-	16	5551	c.5423T>C	c.(5422-5424)tTa>tCa	p.L1808S		NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN	polymerase (DNA directed), theta	1808					ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)	nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|damaged DNA binding (GO:0003684)|DNA-directed DNA polymerase activity (GO:0003887)|single-stranded DNA-dependent ATPase activity (GO:0043142)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		ATCCTGTGATAACTGAAGTGA	0.388								DNA polymerases (catalytic subunits)																													Pancreas(152;907 1925 26081 31236 36904)	ENST00000264233.5																			0				NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120						c.(5422-5424)tTa>tCa	DNA polymerases (catalytic subunits)	polymerase (DNA directed), theta							137	133	134					3																	121206355		2203	4300	6503	SO:0001583	missense	10721				DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity	g.chr3:121206355A>G	AF052573	CCDS33833.1	3q13.3	2012-05-18			ENSG00000051341	ENSG00000051341	2.7.7.7	"DNA polymerases"	9186	protein-coding gene	gene with protein product		604419				10395804	Standard	NM_199420		Approved	POLH	uc003eee.4	O75417	OTTHUMG00000159396	ENST00000264233.5:c.5423T>C	3.37:g.121206355A>G	ENSP00000264233:p.Leu1808Ser						p.L1808S	NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN		GBM - Glioblastoma multiforme(114;0.0915)	16	5551	-			1808					O95160|Q6VMB5	Missense_Mutation	SNP	ENST00000264233.5	37	c.5423T>C	CCDS33833.1	.	.	.	.	.	.	.	.	.	.	A	10.60	1.395915	0.25205	.	.	ENSG00000051341	ENST00000543272;ENST00000264233;ENST00000393672	T	0.54866	0.55	5.67	3.34	0.38264	.	0.664927	0.14238	N	0.332294	T	0.49762	0.1576	L	0.56769	1.78	0.09310	N	0.999998	B;B	0.31548	0.221;0.328	B;B	0.34180	0.07;0.177	T	0.49447	-0.8939	10	0.87932	D	0	.	9.5253	0.39160	0.8584:0.0:0.1416:0.0	.	1808;980	O75417;O75417-2	DPOLQ_HUMAN;.	S	1431;1808;1944	ENSP00000264233:L1808S	ENSP00000264233:L1808S	L	-	2	0	POLQ	122689045	0.952000	0.32445	0.336000	0.25522	0.690000	0.40134	4.534000	0.60622	0.989000	0.38761	-0.376000	0.06991	TTA		0.388	POLQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355097.1	NM_199420		8	106	0	0	0	1	0	8	106					G	121206355	A	G	121206355	3	3	314	1	0	0	0	0	1	0	0	0	12208	372	13	4	2409	4	POLQ	3	121206355	Missense_Mutation	SNP	A	TCGA-KK-A6E3-01A-21D-A30E-08	14109	121206355	76816075	8	16121											
PLSCR5	389158	broad.mit.edu	37	chr3	146311885	146311885	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aaattctttgtcccaagctgTttttaatctcatatttgttg	9	20	5	7	0	2	0	1	0	2	0	4	0	3	0	1	0	1	3	1	0	4	8			TCGA-KK-A6E3-01A-21D-A30E-08	TCGA-KK-A6E3-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1106f74-3476-405d-93ad-b718d7f393bc	ee4e1c2b-7911-4e58-a5c2-5211c8d6ef54	g.chr3:146311885T>C	ENST00000443512.1	-	4	1278	c.275A>G	c.(274-276)aAc>aGc	p.N92S	PLSCR5_ENST00000492200.1_Missense_Mutation_p.N92S|PLSCR5_ENST00000482567.1_Missense_Mutation_p.N80S	NM_001085420.1	NP_001078889.1	A0PG75	PLS5_HUMAN	phospholipid scramblase family, member 5	92										endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|urinary_tract(1)	12						TCCCAAGCTGTTTTTAATCTC	0.348																																						ENST00000443512.1																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|urinary_tract(1)	12						c.(274-276)aAc>aGc		phospholipid scramblase family, member 5							116	113	114					3																	146311885		1832	4087	5919	SO:0001583	missense	389158							g.chr3:146311885T>C	AY436642	CCDS46931.1	3q24	2004-06-28			ENSG00000231213	ENSG00000231213			19952	protein-coding gene	gene with protein product							Standard	NM_001085420		Approved		uc010hvc.3	A0PG75	OTTHUMG00000159437	ENST00000443512.1:c.275A>G	3.37:g.146311885T>C	ENSP00000390111:p.Asn92Ser					PLSCR5_ENST00000492200.1_Missense_Mutation_p.N92S|PLSCR5_ENST00000482567.1_Missense_Mutation_p.N80S	p.N92S	NM_001085420.1	NP_001078889.1	A0PG75	PLS5_HUMAN			4	1278	-			92					B2RXK5	Missense_Mutation	SNP	ENST00000443512.1	37	c.275A>G	CCDS46931.1	.	.	.	.	.	.	.	.	.	.	T	21.3	4.133393	0.77662	.	.	ENSG00000231213	ENST00000492200;ENST00000482567;ENST00000443512	T;T;T	0.26067	1.76;1.76;1.76	5.65	5.65	0.86999	.	.	.	.	.	T	0.59998	0.2235	M	0.91300	3.195	0.47374	D	0.999404	D;D	0.89917	0.996;1.0	D;D	0.83275	0.936;0.996	T	0.67348	-0.5693	9	0.45353	T	0.12	-18.9248	15.9421	0.79763	0.0:0.0:0.0:1.0	.	80;92	B2RXK5;A0PG75	.;PLS5_HUMAN	S	92;80;92	ENSP00000417184:N92S;ENSP00000418626:N80S;ENSP00000390111:N92S	ENSP00000390111:N92S	N	-	2	0	PLSCR5	147794575	1.000000	0.71417	0.997000	0.53966	0.994000	0.84299	7.698000	0.84413	2.161000	0.67846	0.524000	0.50904	AAC		0.348	PLSCR5-003	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355365.1	XM_371670		25	117	0	0	0	1	0	25	117					C	146311885	T	C	146311885	3	2	314	1	0	0	0	0	1	0	0	0	12113	1725	60	4	556	4	PLSCR5	3	146311885	Missense_Mutation	SNP	T	TCGA-KK-A6E3-01A-21D-A30E-08	25105530	146311885	51710545	9	16122											
KIAA1211	57482	broad.mit.edu	37	chr4	57181784	57181784	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaggggccggtgtgattccCgcgggaaccaacggaagact	9	5	15	12	4	0	2	0	1	0	1	1	4	1	4	4	5	2	0	4	5	3	1			TCGA-KK-A6E3-01A-21D-A30E-08	TCGA-KK-A6E3-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1106f74-3476-405d-93ad-b718d7f393bc	ee4e1c2b-7911-4e58-a5c2-5211c8d6ef54	g.chr4:57181784C>T	ENST00000504228.1	+	6	2221	c.2116C>T	c.(2116-2118)Cgc>Tgc	p.R706C	KIAA1211_ENST00000541073.1_Missense_Mutation_p.R699C|KIAA1211_ENST00000264229.6_Missense_Mutation_p.R706C			Q6ZU35	K1211_HUMAN	KIAA1211	706										endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1)	65	Glioma(25;0.08)|all_neural(26;0.101)					GTGTGATTCCCGCGGGAACCA	0.582																																						ENST00000504228.1																			0				endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1)	65						c.(2116-2118)Cgc>Tgc		KIAA1211							55	65	61					4																	57181784		1960	4147	6107	SO:0001583	missense	57482							g.chr4:57181784C>T	AB033037	CCDS43230.1	4q12	2012-08-03			ENSG00000109265	ENSG00000109265			29219	protein-coding gene	gene with protein product						10574462, 11230166	Standard	NM_020722		Approved		uc003hbk.2	Q6ZU35	OTTHUMG00000160749	ENST00000504228.1:c.2116C>T	4.37:g.57181784C>T	ENSP00000423366:p.Arg706Cys					KIAA1211_ENST00000264229.6_Missense_Mutation_p.R706C|KIAA1211_ENST00000541073.1_Missense_Mutation_p.R699C	p.R706C			Q6ZU35	K1211_HUMAN			6	2221	+	Glioma(25;0.08)|all_neural(26;0.101)		706					Q9NTE2|Q9NTP8|Q9ULK9	Missense_Mutation	SNP	ENST00000504228.1	37	c.2116C>T	CCDS43230.1	.	.	.	.	.	.	.	.	.	.	C	31	5.066416	0.93898	.	.	ENSG00000109265	ENST00000264229;ENST00000504228;ENST00000541073;ENST00000546221	T;T;T	0.02280	4.36;4.36;4.36	4.47	4.47	0.54385	.	.	.	.	.	T	0.10852	0.0265	M	0.64997	1.995	0.53688	D	0.999974	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.69824	0.953;0.953;0.966	T	0.01294	-1.1393	9	0.87932	D	0	-6.2129	17.3293	0.87258	0.0:1.0:0.0:0.0	.	699;699;706	B7ZVZ4;F5H1N7;Q6ZU35	.;.;K1211_HUMAN	C	706;706;699;616	ENSP00000264229:R706C;ENSP00000423366:R706C;ENSP00000444006:R699C	ENSP00000264229:R706C	R	+	1	0	KIAA1211	56876541	1.000000	0.71417	0.505000	0.27651	0.416000	0.31233	7.132000	0.77251	2.306000	0.77630	0.555000	0.69702	CGC		0.582	KIAA1211-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362097.2	NM_020722		20	146	0	0	0	1	0	20	146					T	57181784	C	T	57181784	3	4	314	1	0	0	0	0	1	0	0	0	8215	652	23	2	2134	2	KIAA1211	4	57181784	Missense_Mutation	SNP	C	TCGA-KK-A6E3-01A-21D-A30E-08		57181784	133972492	10	16123											
GNRHR	2798	broad.mit.edu	37	chr4	68619905	68619905	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agaaagaagcattaaaggtcGcagagagcagaaaaaggaag	21	3	13	4	1	0	4	0	0	0	4	1	6	0	5	0	2	2	3	0	2	7	1	rs150422225		TCGA-KK-A6E3-01A-21D-A30E-08	TCGA-KK-A6E3-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1106f74-3476-405d-93ad-b718d7f393bc	ee4e1c2b-7911-4e58-a5c2-5211c8d6ef54	g.chr4:68619905G>A	ENST00000226413.4	-	1	173	c.149C>T	c.(148-150)gCg>gTg	p.A50V	GNRHR_ENST00000420975.2_Missense_Mutation_p.A50V|UBA6-AS1_ENST00000500538.2_RNA|UBA6-AS1_ENST00000502758.1_RNA	NM_000406.2	NP_000397.1	P30968	GNRHR_HUMAN	gonadotropin-releasing hormone receptor	50					cellular response to gonadotropin-releasing hormone (GO:0097211)|G-protein coupled receptor signaling pathway (GO:0007186)|multicellular organismal development (GO:0007275)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	gonadotropin-releasing hormone receptor activity (GO:0004968)			endometrium(2)|large_intestine(4)|liver(1)|lung(4)|ovary(1)|urinary_tract(1)	13					Abarelix(DB00106)|Buserelin(DB06719)|Cetrorelix(DB00050)|Danazol(DB01406)|Degarelix(DB06699)|Gonadorelin(DB00644)|Goserelin(DB00014)|Leuprolide(DB00007)|Nafarelin(DB00666)	ATTAAAGGTCGCAGAGAGCAG	0.443																																						ENST00000226413.4																			0				endometrium(2)|large_intestine(4)|liver(1)|lung(4)|ovary(1)|urinary_tract(1)	13						c.(148-150)gCg>gTg		gonadotropin-releasing hormone receptor	Abarelix(DB00106)|Cetrorelix(DB00050)|Danazol(DB01406)|Gonadorelin(DB00644)|Leuprolide(DB00007)|Nafarelin(DB00666)	G	VAL/ALA,VAL/ALA	0,4406		0,0,2203	79	84	82		149,149	5.3	0.4	4	dbSNP_134	82	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	GNRHR	NM_000406.2,NM_001012763.1	64,64	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign,benign	50/329,50/250	68619905	1,13005	2203	4300	6503	SO:0001583	missense	0				multicellular organismal development	integral to plasma membrane	gonadotropin-releasing hormone receptor activity	g.chr4:68619905G>A		CCDS3517.1, CCDS47064.1	4q21.2	2012-08-08			ENSG00000109163	ENSG00000109163		"GPCR / Class A : Gonadotropin-releasing hormone receptors"	4421	protein-coding gene	gene with protein product		138850		GRHR		8386108	Standard	NM_000406		Approved	LHRHR	uc003hdn.3	P30968	OTTHUMG00000129302	ENST00000226413.4:c.149C>T	4.37:g.68619905G>A	ENSP00000226413:p.Ala50Val					RP11-453E17.1_ENST00000500538.2_RNA|GNRHR_ENST00000420975.2_Missense_Mutation_p.A50V|RP11-453E17.1_ENST00000502758.1_RNA	p.A50V	NM_000406.2	NP_000397.1	P30968	GNRHR_HUMAN			1	173	-			50					O75793|Q14D13|Q92644	Missense_Mutation	SNP	ENST00000226413.4	37	c.149C>T	CCDS3517.1	.	.	.	.	.	.	.	.	.	.	G	8.665	0.901562	0.17760	0.0	1.16E-4	ENSG00000109163	ENST00000226413;ENST00000420975	T;T	0.32272	1.46;1.46	6.17	5.34	0.76211	.	0.084539	0.51477	D	0.000085	T	0.16811	0.0404	N	0.08118	0	0.30657	N	0.754812	B;B	0.18610	0.014;0.029	B;B	0.14023	0.004;0.01	T	0.09640	-1.0665	10	0.23891	T	0.37	-10.6622	13.3312	0.60488	0.0754:0.0:0.9246:0.0	.	50;50	P30968;P30968-2	GNRHR_HUMAN;.	V	50	ENSP00000226413:A50V;ENSP00000397561:A50V	ENSP00000226413:A50V	A	-	2	0	GNRHR	68302500	0.999000	0.42202	0.402000	0.26371	0.058000	0.15608	6.949000	0.75971	1.635000	0.50512	0.655000	0.94253	GCG		0.443	GNRHR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251432.2			28	106	0	0	0	1	0	28	106					A	68619905	G	A	68619905	3	1	314	1	0	0	0	0	1	0	0	0	6549	1087	38	1	849	1	GNRHR	4	68619905	Missense_Mutation	SNP	G	TCGA-KK-A6E3-01A-21D-A30E-08	11438121	68619905	122534371	11	16124											
TMEM184C	55751	broad.mit.edu	37	chr4	148555575	148555575	+	Frame_Shift_Del	DEL	T	T	-																															agaaccttcagataaatccgTggattcctgaacagtatgga																										TCGA-KK-A6E3-01A-21D-A30E-08	TCGA-KK-A6E3-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1106f74-3476-405d-93ad-b718d7f393bc	ee4e1c2b-7911-4e58-a5c2-5211c8d6ef54	g.chr4:148555575delT	ENST00000296582.3	+	10	1881	c.1307delT	c.(1306-1308)gtgfs	p.V436fs	TMEM184C_ENST00000508208.1_Intron	NM_018241.2	NP_060711.2	Q9NVA4	T184C_HUMAN	transmembrane protein 184C	436						integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(2)|prostate(1)	16						GATAAATCCGTGGATTCCTGA	0.398																																						ENST00000296582.3																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(2)|prostate(1)	16						c.(1306-1308)ggfs		transmembrane protein 184C							55	58	57					4																	148555575		2202	4298	6500	SO:0001589	frameshift_variant	55751					integral to membrane		g.chr4:148555575delT	AF305823	CCDS3770.1	4q31.22	2008-06-05	2008-06-05	2008-06-05		ENSG00000164168			25587	protein-coding gene	gene with protein product		613937	"transmembrane protein 34"	TMEM34			Standard	NM_018241		Approved	FLJ10846	uc003ila.4	Q9NVA4		ENST00000296582.3:c.1307delT	4.37:g.148555575delT	ENSP00000296582:p.Val436fs					TMEM184C_ENST00000508208.1_Intron	p.V436fs	NM_018241.2	NP_060711.2	Q9NVA4	T184C_HUMAN			10	1881	+			436					D3DP04|Q86X84|Q969I7|Q9NXM2	Frame_Shift_Del	DEL	ENST00000296582.3	37	c.1307delT	CCDS3770.1																																																																																				0.398	TMEM184C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364644.1	NM_018241		9	76						9	76	---	---	---	---	-	148555575	T	-	148555575	7	5	314	1	0	1	0	1	0	0	0	0	16103	1696	59	0	1345	0	TMEM184C	4	148555575	Frame_Shift_Del	DEL	T	TCGA-KK-A6E3-01A-21D-A30E-08	79935670	148555575	42598701	12	16125											
FAM198B	51313	broad.mit.edu	37	chr4	159092350	159092350	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agccgcctgtccatgctggaGagaggccctccccacctggc	6	6	12	17	1	0	1	0	0	0	1	2	3	2	2	7	3	2	1	7	3	0	0			TCGA-KK-A6E3-01A-21D-A30E-08	TCGA-KK-A6E3-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1106f74-3476-405d-93ad-b718d7f393bc	ee4e1c2b-7911-4e58-a5c2-5211c8d6ef54	g.chr4:159092350G>A	ENST00000296530.8	-	2	799	c.178C>T	c.(178-180)Ctc>Ttc	p.L60F	FAM198B_ENST00000585682.1_Missense_Mutation_p.L60F|RP11-597D13.9_ENST00000503611.1_RNA|FAM198B_ENST00000393807.5_Missense_Mutation_p.L60F|RP11-597D13.9_ENST00000514381.1_RNA|FAM198B_ENST00000589306.1_Intron|RP11-597D13.9_ENST00000505532.1_RNA|FAM198B_ENST00000592057.1_Missense_Mutation_p.L60F|RP11-597D13.9_ENST00000509463.1_RNA	NM_016613.6	NP_057697.2	Q6UWH4	F198B_HUMAN	family with sequence similarity 198, member B	60						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(14)|skin(2)|urinary_tract(1)	26						CCATGCTGGAGAGAGGCCCTC	0.662																																						ENST00000296530.8																			0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(14)|skin(2)|urinary_tract(1)	26						c.(178-180)Ctc>Ttc		family with sequence similarity 198, member B							39	41	40					4																	159092350		2203	4300	6503	SO:0001583	missense	51313					Golgi membrane|integral to membrane		g.chr4:159092350G>A		CCDS3798.1, CCDS34087.1	4q32.1	2012-11-29	2009-10-19	2009-10-19	ENSG00000164125	ENSG00000164125			25312	protein-coding gene	gene with protein product			"chromosome 4 open reading frame 18"	C4orf18		12975309	Standard	NM_001031700		Approved	FLJ38155, DKFZp434L142	uc003ipr.4	Q6UWH4	OTTHUMG00000161537	ENST00000296530.8:c.178C>T	4.37:g.159092350G>A	ENSP00000296530:p.Leu60Phe					FAM198B_ENST00000592057.1_Missense_Mutation_p.L60F|RP11-597D13.9_ENST00000503611.1_RNA|FAM198B_ENST00000585682.1_Missense_Mutation_p.L60F|FAM198B_ENST00000393807.5_Missense_Mutation_p.L60F|FAM198B_ENST00000589306.1_Intron	p.L60F	NM_016613.6	NP_057697.2	Q6UWH4	F198B_HUMAN			2	799	-			60					Q498Z3|Q6IAF9|Q6ZMF2|Q86XL0	Missense_Mutation	SNP	ENST00000296530.8	37	c.178C>T	CCDS3798.1	.	.	.	.	.	.	.	.	.	.	G	8.535	0.871810	0.17322	.	.	ENSG00000164125	ENST00000337222;ENST00000296530;ENST00000393807;ENST00000417442	T;T	0.31769	1.49;1.48	5.21	-0.858	0.10689	.	1.083460	0.06974	N	0.818543	T	0.16642	0.0400	N	0.16478	0.41	0.09310	N	1	B;B;B	0.14438	0.01;0.003;0.003	B;B;B	0.14023	0.01;0.005;0.003	T	0.28106	-1.0054	10	0.28530	T	0.3	-19.2623	4.6591	0.12634	0.0674:0.3483:0.2619:0.3224	.	60;60;60	Q6UWH4-3;Q6UWH4-2;Q6UWH4	.;.;F198B_HUMAN	F	60	ENSP00000296530:L60F;ENSP00000377396:L60F	ENSP00000296530:L60F	L	-	1	0	FAM198B	159311800	0.905000	0.30787	0.001000	0.08648	0.831000	0.47069	1.193000	0.32162	-0.435000	0.07264	-0.868000	0.02995	CTC		0.662	FAM198B-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365230.1	NM_001031700, NM_016613		6	101	0	0	0	1	0	6	101					A	159092350	G	A	159092350	3	1	314	1	0	0	0	0	1	0	0	0	5529	942	33	3	1502	3	FAM198B	4	159092350	Missense_Mutation	SNP	G	TCGA-KK-A6E3-01A-21D-A30E-08	10536775	159092350	32061926	13	16126											
SLC12A7	10723	broad.mit.edu	37	chr5	1065403	1065403	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gccagccatgcctacccacaAagttcttccaggagaagggg	11	6	11	13	0	1	1	0	0	1	1	2	2	2	1	5	3	3	1	5	3	3	3			TCGA-KK-A6E3-01A-21D-A30E-08	TCGA-KK-A6E3-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1106f74-3476-405d-93ad-b718d7f393bc	ee4e1c2b-7911-4e58-a5c2-5211c8d6ef54	g.chr5:1065403A>G	ENST00000264930.5	-	18	2475	c.2432T>C	c.(2431-2433)tTt>tCt	p.F811S	MIR4635_ENST00000583759.1_RNA	NM_006598.2	NP_006589.2	Q9Y666	S12A7_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 7	811					cell volume homeostasis (GO:0006884)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|potassium ion transport (GO:0006813)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	32	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09)		Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165)		Potassium Chloride(DB00761)	CCTACCCACAAAGTTCTTCCA	0.642																																						ENST00000264930.5																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	32						c.(2431-2433)tTt>tCt		solute carrier family 12 (potassium/chloride transporter), member 7	Potassium Chloride(DB00761)						59	60	60					5																	1065403		2203	4300	6503	SO:0001583	missense	10723				potassium ion transport|sodium ion transport	integral to plasma membrane	potassium:chloride symporter activity	g.chr5:1065403A>G	AF105365	CCDS34129.1	5p15	2013-07-18	2013-07-18		ENSG00000113504	ENSG00000113504		"Solute carriers"	10915	protein-coding gene	gene with protein product		604879				10347194	Standard	NM_006598		Approved	KCC4, DKFZP434F076	uc003jbu.3	Q9Y666	OTTHUMG00000161931	ENST00000264930.5:c.2432T>C	5.37:g.1065403A>G	ENSP00000264930:p.Phe811Ser						p.F811S	NM_006598.2	NP_006589.2	Q9Y666	S12A7_HUMAN	Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165)		18	2475	-	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09)		811					A6NDS8|Q4G0F3|Q96I81|Q9H7I3|Q9H7I7|Q9UFW2	Missense_Mutation	SNP	ENST00000264930.5	37	c.2432T>C	CCDS34129.1	.	.	.	.	.	.	.	.	.	.	a	18.83	3.707906	0.68615	.	.	ENSG00000113504	ENST00000264930	D	0.94232	-3.38	4.49	4.49	0.54785	.	0.000000	0.85682	D	0.000000	D	0.94670	0.8281	M	0.90977	3.165	0.80722	D	1	D	0.53312	0.959	P	0.44732	0.459	D	0.95191	0.8308	10	0.87932	D	0	.	12.5865	0.56421	1.0:0.0:0.0:0.0	.	811	Q9Y666	S12A7_HUMAN	S	811	ENSP00000264930:F811S	ENSP00000264930:F811S	F	-	2	0	SLC12A7	1118403	1.000000	0.71417	0.896000	0.35187	0.760000	0.43138	8.167000	0.89668	1.669000	0.50854	0.383000	0.25322	TTT		0.642	SLC12A7-001	KNOWN	non_canonical_TEC|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366446.2	NM_006598		5	94	0	0	0	1	0	5	94					G	1065403	A	G	1065403	3	3	314	1	0	0	0	0	1	0	0	0	14388	14	1	4	847	4	SLC12A7	5	1065403	Missense_Mutation	SNP	A	TCGA-KK-A6E3-01A-21D-A30E-08		1065403	179849857	14	16127											
CDC20B	166979	broad.mit.edu	37	chr5	54420671	54420671	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ttatgactttcagcggttggCcctgtgcactggcacctgga	6	12	12	11	1	1	1	1	1	0	0	1	2	1	2	2	4	2	3	2	4	1	3			TCGA-KK-A6E3-01A-21D-A30E-08	TCGA-KK-A6E3-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1106f74-3476-405d-93ad-b718d7f393bc	ee4e1c2b-7911-4e58-a5c2-5211c8d6ef54	g.chr5:54420671C>T	ENST00000381375.2	-	9	1320	c.1175G>A	c.(1174-1176)gGc>gAc	p.G392D	CDC20B_ENST00000334206.5_3'UTR|CDC20B_ENST00000296733.1_Missense_Mutation_p.G392D|CDC20B_ENST00000322374.6_Missense_Mutation_p.G392D			Q86Y33	CD20B_HUMAN	cell division cycle 20B	392										kidney(1)|large_intestine(5)|lung(7)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	19		Lung NSC(810;0.000744)|Breast(144;0.159)|Prostate(74;0.194)	LUSC - Lung squamous cell carcinoma(15;0.225)			CAGCGGTTGGCCCTGTGCACT	0.537																																						ENST00000296733.1																			0				kidney(1)|large_intestine(5)|lung(7)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	19						c.(1174-1176)gGc>gAc		cell division cycle 20B							90	81	84					5																	54420671		2203	4300	6503	SO:0001583	missense	166979							g.chr5:54420671C>T	AB086378	CCDS3966.1, CCDS47207.1, CCDS54852.1	5q11.2	2013-01-17	2013-01-17		ENSG00000164287	ENSG00000164287		"WD repeat domain containing"	24222	protein-coding gene	gene with protein product			"CDC20 cell division cycle 20 homolog B (S. cerevisiae)", "cell division cycle 20 homolog B (S. cerevisiae)"				Standard	NM_152623		Approved	FLJ37927	uc003jpo.2	Q86Y33	OTTHUMG00000131185	ENST00000381375.2:c.1175G>A	5.37:g.54420671C>T	ENSP00000370781:p.Gly392Asp					CDC20B_ENST00000334206.5_3'UTR|CDC20B_ENST00000381375.2_Missense_Mutation_p.G392D|CDC20B_ENST00000322374.6_Missense_Mutation_p.G392D	p.G392D	NM_001170402.1|NM_152623.2	NP_001163873.1|NP_689836.2	Q86Y33	CD20B_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.225)		9	1349	-		Lung NSC(810;0.000744)|Breast(144;0.159)|Prostate(74;0.194)	392					B7WNV8|B9EGL8|C9J6X8|C9JHE9|C9JKL5|Q86Y31|Q86Y32|Q8IUZ8|Q8N1S1|Q8NG56	Missense_Mutation	SNP	ENST00000381375.2	37	c.1175G>A	CCDS54852.1	.	.	.	.	.	.	.	.	.	.	C	6.657	0.489722	0.12702	.	.	ENSG00000164287	ENST00000296733;ENST00000381375;ENST00000322374	T;T;T	0.37058	1.22;1.22;1.22	4.66	-1.98	0.07480	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.949899	0.08655	N	0.913306	T	0.24774	0.0601	L	0.31664	0.95	0.09310	N	1	B;B;P	0.45474	0.435;0.309;0.859	B;B;P	0.45712	0.277;0.143;0.491	T	0.17048	-1.0382	10	0.12430	T	0.62	-25.6373	5.61	0.17400	0.3026:0.1989:0.4318:0.0667	.	392;392;392	Q86Y33-3;Q86Y33;Q86Y33-2	.;CD20B_HUMAN;.	D	392	ENSP00000296733:G392D;ENSP00000370781:G392D;ENSP00000315720:G392D	ENSP00000296733:G392D	G	-	2	0	CDC20B	54456428	0.000000	0.05858	0.000000	0.03702	0.076000	0.17211	0.043000	0.13971	-0.715000	0.04968	0.650000	0.86243	GGC		0.537	CDC20B-004	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000369715.1	NM_152623		4	84	0	0	0	1	0	4	84					T	54420671	C	T	54420671	3	4	314	1	0	0	0	0	1	0	0	0	3060	739	26	3	400	3	CDC20B	5	54420671	Missense_Mutation	SNP	C	TCGA-KK-A6E3-01A-21D-A30E-08	53355268	54420671	126494589	15	16128											
P4HA2	8974	broad.mit.edu	37	chr5	131544974	131544974	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tttttctctctcttcctccaAtaactgctcaaagtaccgca	9	15	3	14	1	3	0	1	0	2	0	7	0	5	0	3	0	3	3	3	0	4	5	rs148453847		TCGA-KK-A6E3-01A-21D-A30E-08	TCGA-KK-A6E3-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1106f74-3476-405d-93ad-b718d7f393bc	ee4e1c2b-7911-4e58-a5c2-5211c8d6ef54	g.chr5:131544974A>G	ENST00000401867.1	-	8	1328	c.760T>C	c.(760-762)Ttg>Ctg	p.L254L	P4HA2_ENST00000379100.2_Silent_p.L254L|P4HA2_ENST00000360568.3_Silent_p.L254L|P4HA2_ENST00000379104.2_Silent_p.L254L|P4HA2_ENST00000166534.4_Silent_p.L254L|P4HA2_ENST00000379086.1_Silent_p.L254L			O15460	P4HA2_HUMAN	prolyl 4-hydroxylase, alpha polypeptide II	254					peptidyl-proline hydroxylation to 4-hydroxy-L-proline (GO:0018401)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|procollagen-proline 4-dioxygenase complex (GO:0016222)	electron carrier activity (GO:0009055)|iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen (GO:0016702)|procollagen-proline 4-dioxygenase activity (GO:0004656)			breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24		all_cancers(142;0.103)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		L-Proline(DB00172)|Succinic acid(DB00139)	TCTTCCTCCAATAACTGCTCA	0.468													A|||	1	0.000199681	8e-04	0	5008	,	,		20085	0		0	False		,,,				2504	0				Esophageal Squamous(68;117 1135 17362 19256 34242)	ENST00000401867.1																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24						c.(760-762)Ttg>Ctg		prolyl 4-hydroxylase, alpha polypeptide II	L-Proline(DB00172)|Succinic acid(DB00139)						211	207	208					5																	131544974		2203	4300	6503	SO:0001819	synonymous_variant	8974					endoplasmic reticulum lumen	electron carrier activity|iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 4-dioxygenase activity|protein binding	g.chr5:131544974A>G	U90441	CCDS4151.1, CCDS34230.1	5q31	2008-12-09	2008-12-09		ENSG00000072682	ENSG00000072682	1.14.11.2		8547	protein-coding gene	gene with protein product	"4-PH alpha 2", "collagen prolyl 4-hydroxylase alpha(II)"	600608	"procollagen-proline, 2-oxoglutarate 4-dioxygenase (proline 4-hydroxylase), alpha polypeptide II"			9211872, 9149945	Standard	NM_001142598		Approved	C-P4Halpha(II)	uc003kwl.3	O15460	OTTHUMG00000059647	ENST00000401867.1:c.760T>C	5.37:g.131544974A>G						P4HA2_ENST00000379104.2_Silent_p.L254L|P4HA2_ENST00000379086.1_Silent_p.L254L|P4HA2_ENST00000379100.2_Silent_p.L254L|P4HA2_ENST00000360568.3_Silent_p.L254L|P4HA2_ENST00000166534.4_Silent_p.L254L	p.L254L			O15460	P4HA2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		8	1328	-		all_cancers(142;0.103)|Breast(839;0.198)	254					D3DQ85|D3DQ86|Q8WWN0	Silent	SNP	ENST00000401867.1	37	c.760T>C	CCDS4151.1																																																																																				0.468	P4HA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000132653.4	NM_004199		7	231	0	0	0	1	0	7	231					G	131544974	A	G	131544974	2	3	314	1	0	0	0	0	0	0	0	1	11357	98	4	4		4	P4HA2	5	131544974	Silent	SNP	A	TCGA-KK-A6E3-01A-21D-A30E-08	77124303	131544974	49370286	16	16129											
HIST1H3G	8355	broad.mit.edu	37	chr6	26271485	26271485	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagagccacggtgccgggaCggtagcgatgaggtttcttc	7	8	16	10	4	1	2	0	1	1	1	2	4	1	3	2	4	3	3	2	4	1	3			TCGA-KK-A6E3-01A-21D-A30E-08	TCGA-KK-A6E3-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1106f74-3476-405d-93ad-b718d7f393bc	ee4e1c2b-7911-4e58-a5c2-5211c8d6ef54	g.chr6:26271485C>A	ENST00000305910.3	-	1	127	c.128G>T	c.(127-129)cGt>cTt	p.R43L	HIST1H2BI_ENST00000377733.2_5'Flank	NM_003534.2	NP_003525.1	P68431	H31_HUMAN	histone cluster 1, H3g	43					blood coagulation (GO:0007596)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|regulation of gene silencing (GO:0060968)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	12						GGTGCCGGGACGGTAGCGATG	0.637																																						ENST00000305910.3																			0				breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	12						c.(127-129)cGt>cTt		histone cluster 1, H3g							50	54	52					6																	26271485		2203	4300	6503	SO:0001583	missense	8355				blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding	g.chr6:26271485C>A	Z80785	CCDS4602.1	6p22.1	2011-07-22	2006-10-11	2003-03-14	ENSG00000256018			"Histones / Replication-dependent"	4772	protein-coding gene	gene with protein product		602815	"H3 histone family, member H", "histone 1, H3g"	H3FH		9119399, 12408966	Standard	NM_003534		Approved	H3/h	uc003nhi.3	P68431	OTTHUMG00000014436	ENST00000305910.3:c.128G>T	6.37:g.26271485C>A	ENSP00000439660:p.Arg43Leu						p.R43L	NM_003534.2	NP_003525.1	P68431	H31_HUMAN			1	127	-			43					A0PJT7|A5PLR1|P02295|P02296|P16106|Q6ISV8|Q6NWP8|Q6NWP9|Q6NXU4|Q71DJ3|Q93081	Missense_Mutation	SNP	ENST00000305910.3	37	c.128G>T	CCDS4602.1	.	.	.	.	.	.	.	.	.	.	.	10.71	1.427658	0.25726	.	.	ENSG00000256018	ENST00000305910	T	0.48522	0.81	4.56	3.7	0.42460	.	.	.	.	.	T	0.39462	0.1079	.	.	.	0.28908	N	0.892857	.	.	.	.	.	.	T	0.32052	-0.9921	6	0.87932	D	0	.	11.9332	0.52857	0.0:0.915:0.0:0.085	.	.	.	.	L	43	ENSP00000439660:R43L	ENSP00000439660:R43L	R	-	2	0	HIST1H3G	26379464	1.000000	0.71417	0.982000	0.44146	0.086000	0.17979	7.557000	0.82243	1.064000	0.40671	0.563000	0.77884	CGT		0.637	HIST1H3G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040099.2	NM_003534		6	106	1	0	0.0215528	1	0.0221867	6	106					A	26271485	C	A	26271485	3	1	314	1	0	0	0	0	1	0	0	0	7161	536	19	5	286	5	HIST1H3G	6	26271485	Missense_Mutation	SNP	C	TCGA-KK-A6E3-01A-21D-A30E-08		26271485	144843582	17	16130											
MCHR2	84539	broad.mit.edu	37	chr6	100390958	100390958	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccaaaggcccaaattgatccGgatggtcttgtaccttgttc	9	12	9	11	1	1	1	0	1	1	0	3	2	2	2	4	3	1	2	4	3	3	5	rs267600747		TCGA-KK-A6E3-01A-21D-A30E-08	TCGA-KK-A6E3-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1106f74-3476-405d-93ad-b718d7f393bc	ee4e1c2b-7911-4e58-a5c2-5211c8d6ef54	g.chr6:100390958G>A	ENST00000281806.2	-	4	768	c.454C>T	c.(454-456)Cgg>Tgg	p.R152W	MCHR2_ENST00000369212.2_Missense_Mutation_p.R152W	NM_001040179.1	NP_001035269.1	Q969V1	MCHR2_HUMAN	melanin-concentrating hormone receptor 2	152			R -> Q (no changes in receptor binding or functional signaling; dbSNP:rs62434070). {ECO:0000269|PubMed:15340116}.			integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	39		all_cancers(76;4.87e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0309)|Colorectal(196;0.069)		BRCA - Breast invasive adenocarcinoma(108;0.0429)		AAATTGATCCGGATGGTCTTG	0.473																																						ENST00000281806.2																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	39						c.(454-456)Cgg>Tgg		melanin-concentrating hormone receptor 2							147	137	141					6																	100390958		2203	4300	6503	SO:0001583	missense	84539					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr6:100390958G>A	AF347063	CCDS5044.1	6q16	2012-08-08	2006-02-15	2006-02-15	ENSG00000152034	ENSG00000152034		"GPCR / Class A : MCH receptors"	20867	protein-coding gene	gene with protein product		606111	"G protein-coupled receptor 145"	GPR145		11355873, 11274220	Standard	NM_032503		Approved	SLT, MCH2, MCH2R	uc003pqi.1	Q969V1	OTTHUMG00000015270	ENST00000281806.2:c.454C>T	6.37:g.100390958G>A	ENSP00000281806:p.Arg152Trp					MCHR2_ENST00000445970.1_Missense_Mutation_p.R152W|MCHR2_ENST00000369212.1_Missense_Mutation_p.R152W	p.R152W	NM_001040179.1	NP_001035269.1	Q969V1	MCHR2_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0429)	4	768	-		all_cancers(76;4.87e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0309)|Colorectal(196;0.069)	152		R -> Q (no changes in receptor binding or functional signaling).			B3KVW4|E1P5D7|Q5VTV7|Q6Q377|Q9BXA8	Missense_Mutation	SNP	ENST00000281806.2	37	c.454C>T	CCDS5044.1	.	.	.	.	.	.	.	.	.	.	G	12.28	1.890903	0.33348	.	.	ENSG00000152034	ENST00000445970;ENST00000281806;ENST00000369212	T;T;T	0.72282	-0.64;-0.64;-0.64	4.95	2.17	0.27698	GPCR, rhodopsin-like superfamily (1);	0.385573	0.22790	N	0.055620	T	0.45458	0.1343	L	0.59912	1.85	0.22656	N	0.998884	B	0.16603	0.018	B	0.13407	0.009	T	0.46884	-0.9159	10	0.51188	T	0.08	.	9.5126	0.39087	0.2389:0.0:0.7611:0.0	.	152	Q969V1	MCHR2_HUMAN	W	152	ENSP00000403490:R152W;ENSP00000281806:R152W;ENSP00000358214:R152W	ENSP00000281806:R152W	R	-	1	2	MCHR2	100497679	0.214000	0.23563	0.687000	0.30102	0.878000	0.50629	0.214000	0.17541	0.144000	0.18951	0.655000	0.94253	CGG		0.473	MCHR2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041620.2	NM_032503		9	133	0	0	0	1	0	9	133					A	100390958	G	A	100390958	3	1	314	1	0	0	0	0	1	0	0	0	9383	1115	39	2	580	2	MCHR2	6	100390958	Missense_Mutation	SNP	G	TCGA-KK-A6E3-01A-21D-A30E-08	74119473	100390958	70724109	18	16131											
ITGB8	3696	broad.mit.edu	37	chr7	20444317	20444317	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaaggtgatcgatgccagtGcccttcagcagcagcccagc	9	6	13	13	1	1	1	1	1	0	0	2	3	1	2	3	2	6	2	3	2	1	1			TCGA-KK-A6E3-01A-21D-A30E-08	TCGA-KK-A6E3-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1106f74-3476-405d-93ad-b718d7f393bc	ee4e1c2b-7911-4e58-a5c2-5211c8d6ef54	g.chr7:20444317G>A	ENST00000222573.4	+	11	2438	c.1754G>A	c.(1753-1755)tGc>tAc	p.C585Y	ITGB8_ENST00000537992.1_Missense_Mutation_p.C450Y	NM_002214.2	NP_002205.1	P26012	ITB8_HUMAN	integrin, beta 8	585	Cysteine-rich tandem repeats.				cartilage development (GO:0051216)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|ganglioside metabolic process (GO:0001573)|integrin-mediated signaling pathway (GO:0007229)|negative regulation of gene expression (GO:0010629)|placenta blood vessel development (GO:0060674)|positive regulation of gene expression (GO:0010628)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integrin alphav-beta8 complex (GO:0034686)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	extracellular matrix protein binding (GO:1990430)|receptor activity (GO:0004872)			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(4)|stomach(2)|urinary_tract(1)	37						CGATGCCAGTGCCCTTCAGCA	0.562																																						ENST00000222573.3																			0				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(4)|stomach(2)|urinary_tract(1)	37						c.(1753-1755)tGc>tAc		integrin, beta 8							144	111	122					7																	20444317		2203	4300	6503	SO:0001583	missense	3696				cell-matrix adhesion|integrin-mediated signaling pathway|placenta blood vessel development	integrin complex	protein binding|receptor activity	g.chr7:20444317G>A		CCDS5370.1	7p15.3	2010-03-23			ENSG00000105855	ENSG00000105855		"Integrins"	6163	protein-coding gene	gene with protein product		604160					Standard	XM_005249751		Approved		uc003suu.3	P26012	OTTHUMG00000023594	ENST00000222573.4:c.1754G>A	7.37:g.20444317G>A	ENSP00000222573:p.Cys585Tyr					ITGB8_ENST00000537992.1_Missense_Mutation_p.C450Y	p.C585Y	NM_002214.2	NP_002205.1	P26012	ITB8_HUMAN			11	2438	+			585			Cysteine-rich tandem repeats.		A4D133|B4DHD4	Missense_Mutation	SNP	ENST00000222573.4	37	c.1754G>A	CCDS5370.1	.	.	.	.	.	.	.	.	.	.	G	27.7	4.854942	0.91355	.	.	ENSG00000105855	ENST00000537992;ENST00000222573	D;D	0.96587	-4.06;-4.06	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	D	0.98507	0.9502	M	0.88570	2.965	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.98883	1.0770	10	0.87932	D	0	.	20.3472	0.98799	0.0:0.0:1.0:0.0	.	585	P26012	ITB8_HUMAN	Y	450;585	ENSP00000441561:C450Y;ENSP00000222573:C585Y	ENSP00000222573:C585Y	C	+	2	0	ITGB8	20410842	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	9.020000	0.93667	2.890000	0.99128	0.650000	0.86243	TGC		0.562	ITGB8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059915.3	NM_002214		5	47	0	0	0	1	0	5	47					A	20444317	G	A	20444317	3	1	314	1	0	0	0	0	1	0	0	0	7901	1319	46	3	1796	3	ITGB8	7	20444317	Missense_Mutation	SNP	G	TCGA-KK-A6E3-01A-21D-A30E-08		20444317	138694346	19	16132											
ZNF804B	219578	broad.mit.edu	37	chr7	88956732	88956732	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tggaaagatgagaaaaaacaAgaaaaagcacttaaacgact	23	5	8	5	1	0	3	0	1	0	3	0	6	0	4	0	1	3	1	0	1	9	1			TCGA-KK-A6E3-01A-21D-A30E-08	TCGA-KK-A6E3-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1106f74-3476-405d-93ad-b718d7f393bc	ee4e1c2b-7911-4e58-a5c2-5211c8d6ef54	g.chr7:88956732A>C	ENST00000333190.4	+	3	933	c.324A>C	c.(322-324)caA>caC	p.Q108H		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	108							metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			AGAAAAAACAAGAAAAAGCAC	0.373										HNSCC(36;0.09)																												ENST00000333190.4																			0				NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144						c.(322-324)caA>caC		zinc finger protein 804B							97	98	97					7																	88956732		2203	4300	6503	SO:0001583	missense	219578					intracellular	zinc ion binding	g.chr7:88956732A>C	AK056672	CCDS5613.1	7q21.13	2012-10-05	2006-12-18		ENSG00000182348	ENSG00000182348			21958	protein-coding gene	gene with protein product			"zinc finger 804B"				Standard	NM_181646		Approved	FLJ32110	uc011khi.2	A4D1E1	OTTHUMG00000131037	ENST00000333190.4:c.324A>C	7.37:g.88956732A>C	ENSP00000329638:p.Gln108His	HNSCC(36;0.09)					p.Q108H	NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	STAD - Stomach adenocarcinoma(171;0.0513)		3	933	+	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		108					B2RTV2|Q7Z714|Q96MN7	Missense_Mutation	SNP	ENST00000333190.4	37	c.324A>C	CCDS5613.1	.	.	.	.	.	.	.	.	.	.	A	19.85	3.903172	0.72754	.	.	ENSG00000182348	ENST00000333190	T	0.19938	2.11	5.04	2.74	0.32292	.	0.000000	0.56097	D	0.000022	T	0.40570	0.1122	M	0.78049	2.395	0.39089	D	0.961064	D	0.89917	1.0	D	0.87578	0.998	T	0.36286	-0.9754	10	0.87932	D	0	-15.6722	4.7768	0.13184	0.6055:0.0:0.3944:0.0	.	108	A4D1E1	Z804B_HUMAN	H	108	ENSP00000329638:Q108H	ENSP00000329638:Q108H	Q	+	3	2	ZNF804B	88794668	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.822000	0.39052	1.057000	0.40506	0.528000	0.53228	CAA		0.373	ZNF804B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253683.2	NM_181646		4	70	0	0	0	1	0	4	70					C	88956732	A	C	88956732	3	2	314	1	0	0	0	0	1	0	0	0	18168	69	3	5	334	5	ZNF804B	7	88956732	Missense_Mutation	SNP	A	TCGA-KK-A6E3-01A-21D-A30E-08	68512415	88956732	70181931	20	16133											
ZAN	7455	broad.mit.edu	37	chr7	100363150	100363150	+	RNA	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cctcgctcccagtgtgggtgCctccaccctgcaggcagcta	5	8	11	17	1	0	0	0	0	0	0	3	0	2	0	5	2	3	4	5	2	1	1			TCGA-KK-A6E3-01A-21D-A30E-08	TCGA-KK-A6E3-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1106f74-3476-405d-93ad-b718d7f393bc	ee4e1c2b-7911-4e58-a5c2-5211c8d6ef54	g.chr7:100363150C>T	ENST00000348028.3	+	0	4608				ZAN_ENST00000538115.1_RNA|ZAN_ENST00000542585.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000349350.6_RNA			Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida (GO:0007339)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			AGTGTGGGTGCCTCCACCCTG	0.637																																						ENST00000542585.1																			0				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139								zonadhesin (gene/pseudogene)							30	33	32					7																	100363150		2093	4222	6315			7455				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane		g.chr7:100363150C>T	U83191		7q22.1	2013-10-10	2013-10-10		ENSG00000146839	ENSG00000146839			12857	protein-coding gene	gene with protein product		602372	"zonadhesin"			9799793, 17033959	Standard	NM_003386		Approved		uc003uwk.3	Q9Y493	OTTHUMG00000157037		7.37:g.100363150C>T						ZAN_ENST00000348028.3_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000427578.1_RNA		NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	STAD - Stomach adenocarcinoma(171;0.19)		0	4591	+	Lung NSC(181;0.041)|all_lung(186;0.0581)							A0FKC8|D6W5W4|O00218|Q96L85|Q96L86|Q96L87|Q96L88|Q96L89|Q96L90|Q9BXN9|Q9BZ83|Q9BZ84|Q9BZ85|Q9BZ86|Q9BZ87|Q9BZ88	RNA	SNP	ENST00000348028.3	37																																																																																						0.637	ZAN-006	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000347214.1	NM_003386		4	16	0	0	0	1	0	4	16					T	100363150	C	T	100363150	1	4	314	0	1	0	0	0	0	0	0	0	17510	747	26	3		3	ZAN	7	100363150	RNA	SNP	C	TCGA-KK-A6E3-01A-21D-A30E-08	11406418	100363150	58775513	21	16134											
MUC17	140453	broad.mit.edu	37	chr7	100677621	100677621	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tgaaggtaccagcataccaaCctcgactcctagtgaaggaa	14	7	9	11	1	0	2	0	2	0	0	2	4	1	3	4	2	4	2	4	2	7	3			TCGA-KK-A6E3-01A-21D-A30E-08	TCGA-KK-A6E3-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1106f74-3476-405d-93ad-b718d7f393bc	ee4e1c2b-7911-4e58-a5c2-5211c8d6ef54	g.chr7:100677621C>A	ENST00000306151.4	+	3	2988	c.2924C>A	c.(2923-2925)aCc>aAc	p.T975N		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	975	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					AGCATACCAACCTCGACTCCT	0.502																																						ENST00000306151.4																			0				NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343						c.(2923-2925)aCc>aAc		mucin 17, cell surface associated							355	331	339					7																	100677621		2203	4300	6503	SO:0001583	missense	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100677621C>A	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"Mucins"	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.2924C>A	7.37:g.100677621C>A	ENSP00000302716:p.Thr975Asn						p.T975N	NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN			3	2988	+	Lung NSC(181;0.136)|all_lung(186;0.182)		975			59 X approximate tandem repeats.|Ser-rich.		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	c.2924C>A	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	C	0.760	-0.769784	0.02974	.	.	ENSG00000169876	ENST00000306151	T	0.02472	4.28	0.73	-0.301	0.12800	.	.	.	.	.	T	0.01092	0.0036	N	0.08118	0	0.09310	N	1	P	0.38827	0.649	B	0.18871	0.023	T	0.48990	-0.8985	9	0.33141	T	0.24	.	3.7676	0.08629	0.0:0.4437:0.0:0.5563	.	975	Q685J3	MUC17_HUMAN	N	975	ENSP00000302716:T975N	ENSP00000302716:T975N	T	+	2	0	MUC17	100464341	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.012000	0.13287	-0.110000	0.12022	0.134000	0.15878	ACC		0.502	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		29	972	1	0	1.55469e-16	1	1.72744e-16	29	972					A	100677621	C	A	100677621	3	1	314	1	0	0	0	0	1	0	0	0	9974	507	18	5	2934	5	MUC17	7	100677621	Missense_Mutation	SNP	C	TCGA-KK-A6E3-01A-21D-A30E-08	314471	100677621	58461042	22	16135											
MEST	4232	broad.mit.edu	37	chr7	130143791	130143791	+	Frame_Shift_Del	DEL	C	C	-																															tagttcattttatctatgggCcattggatcctgtaaatccc																										TCGA-KK-A6E3-01A-21D-A30E-08	TCGA-KK-A6E3-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1106f74-3476-405d-93ad-b718d7f393bc	ee4e1c2b-7911-4e58-a5c2-5211c8d6ef54	g.chr7:130143791delC	ENST00000223215.4	+	11	1065	c.844delC	c.(844-846)ccafs	p.P282fs	MEST_ENST00000341441.5_Frame_Shift_Del_p.P273fs|MEST_ENST00000416162.2_Frame_Shift_Del_p.P239fs|MEST_ENST00000437945.1_Intron|MEST_ENST00000378576.4_Frame_Shift_Del_p.P239fs|MEST_ENST00000393187.1_Frame_Shift_Del_p.P273fs	NM_001253900.1|NM_002402.3	NP_001240829.1|NP_002393.2	Q5EB52	MEST_HUMAN	mesoderm specific transcript	282					mesoderm development (GO:0007498)|regulation of lipid storage (GO:0010883)|response to retinoic acid (GO:0032526)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	hydrolase activity (GO:0016787)			breast(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(2)	12	Melanoma(18;0.0435)					TATCTATGGGCCATTGGATCC	0.408																																					Colon(126;2182 2305 6517 35181)	ENST00000223215.4																			0				breast(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(2)	12						c.(844-846)cafs		mesoderm specific transcript							154	152	153					7																	130143791		2203	4300	6503	SO:0001589	frameshift_variant	4232				mesoderm development	endoplasmic reticulum membrane|integral to membrane	hydrolase activity|protein binding	g.chr7:130143791delC		CCDS5822.1, CCDS5823.1, CCDS59081.1	7q32	2014-08-22	2012-12-07		ENSG00000106484	ENSG00000106484			7028	protein-coding gene	gene with protein product	"Paternally-expressed gene 1"	601029	"mesoderm specific transcript (mouse) homolog", "mesoderm specific transcript homolog (mouse)"			8884280	Standard	NM_002402		Approved	PEG1	uc003vqg.3	Q5EB52	OTTHUMG00000156661	ENST00000223215.4:c.844delC	7.37:g.130143791delC	ENSP00000223215:p.Pro282fs					MEST_ENST00000378576.4_Frame_Shift_Del_p.P239fs|MEST_ENST00000416162.2_Frame_Shift_Del_p.P239fs|MEST_ENST00000437945.1_Intron|MEST_ENST00000393187.1_Frame_Shift_Del_p.P273fs|MEST_ENST00000341441.4_Frame_Shift_Del_p.P273fs	p.P282fs	NM_001253900.1|NM_002402.3	NP_001240829.1|NP_002393.2	Q5EB52	MEST_HUMAN			11	1065	+	Melanoma(18;0.0435)		282					B2R6S1|O14973|O15007|Q6AI49|Q92571	Frame_Shift_Del	DEL	ENST00000223215.4	37	c.844delC	CCDS5822.1																																																																																				0.408	MEST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345183.2	NM_002402		11	80						11	80	---	---	---	---	-	130143791	C	-	130143791	7	5	314	1	0	1	0	1	0	0	0	0	9484	739	26	0	886	0	MEST	7	130143791	Frame_Shift_Del	DEL	C	TCGA-KK-A6E3-01A-21D-A30E-08	29466170	130143791	28994872	23	16136											
MCPH1	79648	broad.mit.edu	37	chr8	6312713	6312713	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttttagatgactcatgtgaCggctttaaggacctcatcaa	11	13	9	8	1	3	3	3	2	0	1	3	4	3	4	1	2	0	2	1	2	3	4			TCGA-KK-A6E3-01A-21D-A30E-08	TCGA-KK-A6E3-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1106f74-3476-405d-93ad-b718d7f393bc	ee4e1c2b-7911-4e58-a5c2-5211c8d6ef54	g.chr8:6312713C>G	ENST00000344683.5	+	9	1951	c.1875C>G	c.(1873-1875)gaC>gaG	p.D625E		NM_024596.3	NP_078872	Q8NEM0	MCPH1_HUMAN	microcephalin 1	625					cerebral cortex development (GO:0021987)|mitotic cell cycle (GO:0000278)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleoplasm (GO:0005654)	identical protein binding (GO:0042802)		AGPAT5/MCPH1(2)	central_nervous_system(1)|large_intestine(4)|skin(1)	6		Hepatocellular(245;0.0663)		Colorectal(4;0.0505)		ACTCATGTGACGGCTTTAAGG	0.348																																					Colon(95;1448 1467 8277 34473 35819)	ENST00000344683.5																		AGPAT5/MCPH1(2)	0				central_nervous_system(1)|large_intestine(4)|skin(1)	6						c.(1873-1875)gaC>gaG		microcephalin 1							147	140	142					8																	6312713		1848	4104	5952	SO:0001583	missense	79648					microtubule organizing center		g.chr8:6312713C>G	AK022909	CCDS43689.1, CCDS55190.1, CCDS55191.1	8p23.1	2012-11-26	2007-11-26		ENSG00000147316	ENSG00000147316			6954	protein-coding gene	gene with protein product	"BRCT-repeat inhibitor of TERT expression 1"	607117	"microcephaly, primary autosomal recessive 1"			9683597, 17925396	Standard	NM_024596		Approved	FLJ12847, BRIT1	uc003wqi.3	Q8NEM0	OTTHUMG00000163618	ENST00000344683.5:c.1875C>G	8.37:g.6312713C>G	ENSP00000342924:p.Asp625Glu						p.D625E	NM_024596.3	NP_078872.2	Q8NEM0	MCPH1_HUMAN		Colorectal(4;0.0505)	9	1951	+		Hepatocellular(245;0.0663)	625					B4DWW2|E9PGU5|E9PH63|Q66GU1|Q9H9C7	Missense_Mutation	SNP	ENST00000344683.5	37	c.1875C>G	CCDS43689.1	.	.	.	.	.	.	.	.	.	.	C	0.003	-2.576313	0.00131	.	.	ENSG00000147316	ENST00000344683	T	0.03717	3.83	5.66	-2.39	0.06602	.	0.820767	0.11426	N	0.565270	T	0.00906	0.0030	N	0.01297	-0.9	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.44375	-0.9332	10	0.02654	T	1	-3.615	1.5949	0.02662	0.3942:0.1486:0.3192:0.138	.	625	Q8NEM0	MCPH1_HUMAN	E	625	ENSP00000342924:D625E	ENSP00000342924:D625E	D	+	3	2	MCPH1	6300121	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	0.334000	0.19787	-0.395000	0.07715	-2.251000	0.00283	GAC		0.348	MCPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374532.2	NM_024596		8	98	0	0	0	1	0	8	98					G	6312713	C	G	6312713	3	3	314	1	0	0	0	0	1	0	0	0	9398	535	19	5	1917	5	MCPH1	8	6312713	Missense_Mutation	SNP	C	TCGA-KK-A6E3-01A-21D-A30E-08		6312713	140051309	24	16137											
SGCZ	137868	broad.mit.edu	37	chr8	14412372	14412372	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aattcccactgggtaaagttGtgcattctcagtccttggca	9	13	9	10	0	1	0	1	0	1	0	4	0	3	0	2	2	1	4	2	2	3	5			TCGA-KK-A6E3-01A-21D-A30E-08	TCGA-KK-A6E3-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1106f74-3476-405d-93ad-b718d7f393bc	ee4e1c2b-7911-4e58-a5c2-5211c8d6ef54	g.chr8:14412372G>T	ENST00000382080.1	-	2	818	c.103C>A	c.(103-105)Caa>Aaa	p.Q35K	SGCZ_ENST00000421524.2_Missense_Mutation_p.Q22K	NM_139167.2	NP_631906.2	Q96LD1	SGCZ_HUMAN	sarcoglycan, zeta	22					membrane organization (GO:0061024)|muscle cell cellular homeostasis (GO:0046716)|muscle cell development (GO:0055001)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|sarcoglycan complex (GO:0016012)				NS(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(14)|lung(15)|ovary(2)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	47				all cancers(2;0.000643)|Colorectal(111;0.00674)|COAD - Colon adenocarcinoma(73;0.0193)|GBM - Glioblastoma multiforme(2;0.026)		GGGTAAAGTTGTGCATTCTCA	0.388																																						ENST00000382080.1																			0				NS(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(14)|lung(15)|ovary(2)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	47						c.(103-105)Caa>Aaa		sarcoglycan, zeta							245	235	239					8																	14412372		2203	4300	6503	SO:0001583	missense	137868				cytoskeleton organization	cytoplasm|cytoskeleton|integral to membrane|sarcolemma		g.chr8:14412372G>T	AY028700	CCDS5992.2	8p22	2014-09-17	2010-04-21		ENSG00000185053	ENSG00000185053			14075	protein-coding gene	gene with protein product		608113				12189167	Standard	XM_006716287		Approved	ZSG1	uc003wwq.3	Q96LD1	OTTHUMG00000090827	ENST00000382080.1:c.103C>A	8.37:g.14412372G>T	ENSP00000371512:p.Gln35Lys					SGCZ_ENST00000421524.2_Missense_Mutation_p.Q22K	p.Q35K	NM_139167.2	NP_631906.2	Q96LD1	SGCZ_HUMAN		all cancers(2;0.000643)|Colorectal(111;0.00674)|COAD - Colon adenocarcinoma(73;0.0193)|GBM - Glioblastoma multiforme(2;0.026)	2	818	-			22					Q6REU0	Missense_Mutation	SNP	ENST00000382080.1	37	c.103C>A	CCDS5992.2	.	.	.	.	.	.	.	.	.	.	G	14.52	2.559341	0.45590	.	.	ENSG00000185053	ENST00000382080;ENST00000421524	D;T	0.85861	-2.04;1.54	5.39	5.39	0.77823	.	0.480501	0.23918	N	0.043272	T	0.81365	0.4807	L	0.42245	1.32	0.47476	D	0.999434	B;B	0.27732	0.118;0.187	B;B	0.25140	0.018;0.058	T	0.76748	-0.2845	10	0.30078	T	0.28	.	18.5343	0.91004	0.0:0.0:1.0:0.0	.	22;35	Q08AT0;Q96LD1-2	.;.	K	35;22	ENSP00000371512:Q35K;ENSP00000405224:Q22K	ENSP00000371512:Q35K	Q	-	1	0	SGCZ	14456743	1.000000	0.71417	0.956000	0.39512	0.804000	0.45430	7.021000	0.76425	2.708000	0.92522	0.650000	0.86243	CAA		0.388	SGCZ-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207636.2	NM_139167		7	185	1	0	0.307466	1	0.307466	7	185					T	14412372	G	T	14412372	3	4	314	1	0	0	0	0	1	0	0	0	14204	1386	48	5	863	5	SGCZ	8	14412372	Missense_Mutation	SNP	G	TCGA-KK-A6E3-01A-21D-A30E-08	8099659	14412372	131951650	25	16138											
PRTFDC1	56952	broad.mit.edu	37	chr10	25160959	25160959	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgttgaaagatcatcgcctcCgattatctgcatctcaccca	10	11	6	14	3	3	2	2	1	2	1	6	3	4	2	3	0	1	2	3	0	2	2			TCGA-KK-A6E3-01A-21D-A30E-08	TCGA-KK-A6E3-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1106f74-3476-405d-93ad-b718d7f393bc	ee4e1c2b-7911-4e58-a5c2-5211c8d6ef54	g.chr10:25160959C>T	ENST00000320152.6	-	4	401	c.373G>A	c.(373-375)Gga>Aga	p.G125R	PRTFDC1_ENST00000376378.1_Missense_Mutation_p.G125R	NM_020200.5	NP_064585.1	Q9NRG1	PRDC1_HUMAN	phosphoribosyl transferase domain containing 1	125					nucleoside metabolic process (GO:0009116)	cytosol (GO:0005829)	magnesium ion binding (GO:0000287)|nucleotide binding (GO:0000166)|protein homodimerization activity (GO:0042803)	p.G125R(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	9						TCATCGCCTCCGATTATCTGC	0.453																																						ENST00000320152.6																			1	Substitution - Missense(1)	p.G125R(1)	ovary(1)	breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	9						c.(373-375)Gga>Aga		phosphoribosyl transferase domain containing 1							276	237	250					10																	25160959		2203	4300	6503	SO:0001583	missense	56952				adenine salvage|central nervous system neuron development|cerebral cortex neuron differentiation|cytolysis|dendrite morphogenesis|GMP salvage|grooming behavior|hypoxanthine metabolic process|IMP salvage|lymphocyte proliferation|positive regulation of dopamine metabolic process|purine ribonucleoside salvage|response to amphetamine|striatum development	cytosol	hypoxanthine phosphoribosyltransferase activity|magnesium ion binding|nucleotide binding|protein homodimerization activity	g.chr10:25160959C>T	AF226056	CCDS7145.1, CCDS60506.1	10p12.31	2003-11-10			ENSG00000099256	ENSG00000099256			23333	protein-coding gene	gene with protein product		610751					Standard	XM_005252537		Approved	HHGP	uc001ise.1	Q9NRG1	OTTHUMG00000017829	ENST00000320152.6:c.373G>A	10.37:g.25160959C>T	ENSP00000318602:p.Gly125Arg					PRTFDC1_ENST00000376378.1_Missense_Mutation_p.G125R	p.G125R	NM_020200.5	NP_064585.1	Q9NRG1	PRDC1_HUMAN			4	401	-			125					B7Z1Z3|Q53HA7|Q59EL9|Q5VV18|Q5VV20	Missense_Mutation	SNP	ENST00000320152.6	37	c.373G>A	CCDS7145.1	.	.	.	.	.	.	.	.	.	.	C	19.76	3.887726	0.72410	.	.	ENSG00000099256	ENST00000320152;ENST00000358336;ENST00000376378	D;D	0.99319	-5.74;-5.74	5.7	4.8	0.61643	Phosphoribosyltransferase (1);	0.000000	0.85682	D	0.000000	D	0.99121	0.9697	M	0.73753	2.245	0.80722	D	1	D;D	0.89917	0.991;1.0	P;D	0.81914	0.5;0.995	D	0.99421	1.0933	10	0.26408	T	0.33	.	10.6276	0.45516	0.0:0.9119:0.0:0.0881	.	125;125	Q9NRG1-2;Q9NRG1	.;PRDC1_HUMAN	R	125	ENSP00000318602:G125R;ENSP00000365558:G125R	ENSP00000318602:G125R	G	-	1	0	PRTFDC1	25200965	0.987000	0.35691	0.956000	0.39512	0.875000	0.50365	2.977000	0.49297	1.414000	0.47017	0.655000	0.94253	GGA		0.453	PRTFDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047243.2	NM_020200		11	314	0	0	0	1	0	11	314					T	25160959	C	T	25160959	3	4	314	1	0	0	0	0	1	0	0	0	12637	661	23	2	328	2	PRTFDC1	10	25160959	Missense_Mutation	SNP	C	TCGA-KK-A6E3-01A-21D-A30E-08		25160959	110373788	26	16139											
MYO3A	53904	broad.mit.edu	37	chr10	26455034	26455034	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caagtcgagcgaggagccccGcatgagccctgacacctgtg	9	5	13	14	3	0	2	0	2	0	0	1	5	0	3	4	1	3	1	4	1	1	0	rs368350598		TCGA-KK-A6E3-01A-21D-A30E-08	TCGA-KK-A6E3-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1106f74-3476-405d-93ad-b718d7f393bc	ee4e1c2b-7911-4e58-a5c2-5211c8d6ef54	g.chr10:26455034G>A	ENST00000265944.5	+	27	3204	c.3038G>A	c.(3037-3039)cGc>cAc	p.R1013H	MYO3A_ENST00000543632.1_Intron	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	1013	Myosin motor.				ATP catabolic process (GO:0006200)|inner ear development (GO:0048839)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of filopodium assembly (GO:0051491)|protein autophosphorylation (GO:0046777)|response to stimulus (GO:0050896)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|filamentous actin (GO:0031941)|filopodium (GO:0030175)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|photoreceptor inner segment (GO:0001917)|stereocilium bundle tip (GO:0032426)	actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|plus-end directed microfilament motor activity (GO:0060002)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.R1013H(1)		NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						GAGGAGCCCCGCATGAGCCCT	0.448																																						ENST00000265944.5																			1	Substitution - Missense(1)	p.R1013H(1)	urinary_tract(1)	NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						c.(3037-3039)cGc>cAc		myosin IIIA							159	171	167					10																	26455034		2203	4300	6503	SO:0001583	missense	53904				protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity	g.chr10:26455034G>A	AF229172	CCDS7148.1	10p11.1	2011-09-27	2004-05-19		ENSG00000095777	ENSG00000095777		"Myosins / Myosin superfamily : Class III"	7601	protein-coding gene	gene with protein product		606808	"deafness, autosomal recessive 30"	DFNB30		10936054	Standard	NM_017433		Approved		uc001isn.2	Q8NEV4	OTTHUMG00000017837	ENST00000265944.5:c.3038G>A	10.37:g.26455034G>A	ENSP00000265944:p.Arg1013His					MYO3A_ENST00000543632.1_Intron	p.R1013H	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN			27	3204	+			1013			Myosin head-like.		Q4G0X2|Q5VZ28|Q8WX17|Q9NYS8	Missense_Mutation	SNP	ENST00000265944.5	37	c.3038G>A	CCDS7148.1	.	.	.	.	.	.	.	.	.	.	g	12.63	1.996356	0.35226	.	.	ENSG00000095777	ENST00000265944	D	0.87334	-2.24	6.07	4.24	0.50183	Myosin head, motor domain (2);	0.258100	0.45361	D	0.000374	T	0.76758	0.4032	L	0.41492	1.28	0.80722	D	1	P	0.37500	0.597	B	0.20767	0.031	T	0.72130	-0.4383	10	0.18276	T	0.48	.	12.5112	0.56007	0.0:0.8182:0.1185:0.0633	.	1013	Q8NEV4	MYO3A_HUMAN	H	1013	ENSP00000265944:R1013H	ENSP00000265944:R1013H	R	+	2	0	MYO3A	26495040	1.000000	0.71417	0.702000	0.30337	0.166000	0.22503	4.517000	0.60503	0.915000	0.36847	-0.134000	0.14843	CGC		0.448	MYO3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047259.1	NM_017433		5	273	0	0	0	1	0	5	273					A	26455034	G	A	26455034	3	1	314	1	0	0	0	0	1	0	0	0	10076	1087	38	1	3136	1	MYO3A	10	26455034	Missense_Mutation	SNP	G	TCGA-KK-A6E3-01A-21D-A30E-08	1294075	26455034	109079713	27	16140											
GAD2	2572	broad.mit.edu	37	chr10	26505785	26505785	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gtctttcgggtcggaagatgGctctggggattccgagaatc	7	11	15	8	3	2	2	0	0	2	2	6	5	3	4	1	5	0	1	1	5	2	2			TCGA-KK-A6E3-01A-21D-A30E-08	TCGA-KK-A6E3-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1106f74-3476-405d-93ad-b718d7f393bc	ee4e1c2b-7911-4e58-a5c2-5211c8d6ef54	g.chr10:26505785G>A	ENST00000376261.3	+	1	550	c.47G>A	c.(46-48)gGc>gAc	p.G16D	GAD2_ENST00000259271.3_Missense_Mutation_p.G16D|GAD2_ENST00000376248.1_5'Flank	NM_001134366.1	NP_001127838.1	Q05329	DCE2_HUMAN	glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa)	16					glutamate decarboxylation to succinate (GO:0006540)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter secretion (GO:0007269)|response to drug (GO:0042493)|synaptic transmission (GO:0007268)	anchored component of membrane (GO:0031225)|axon (GO:0030424)|cell junction (GO:0030054)|clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane (GO:0061202)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|synaptic vesicle membrane (GO:0030672)	glutamate binding (GO:0016595)|glutamate decarboxylase activity (GO:0004351)|pyridoxal phosphate binding (GO:0030170)			central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(26)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						TCGGAAGATGGCTCTGGGGAT	0.637																																						ENST00000376261.3																			0				central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(26)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						c.(46-48)gGc>gAc		glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa)	L-Glutamic Acid(DB00142)						63	70	68					10																	26505785		2203	4300	6503	SO:0001583	missense	2572				glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion	cell junction|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|Golgi membrane|presynaptic membrane	glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding	g.chr10:26505785G>A	AJ251501	CCDS7149.1	10p13-p11.2	2003-11-11	2002-08-29		ENSG00000136750	ENSG00000136750	4.1.1.15		4093	protein-coding gene	gene with protein product		138275	"glutamate decarboxylase 2 (pancreatic islets and brain, 65kD)"			2039509	Standard	NM_000818		Approved	GAD65	uc001isp.2	Q05329	OTTHUMG00000017836	ENST00000376261.3:c.47G>A	10.37:g.26505785G>A	ENSP00000365437:p.Gly16Asp					GAD2_ENST00000259271.3_Missense_Mutation_p.G16D	p.G16D	NM_001134366.1	NP_001127838.1	Q05329	DCE2_HUMAN			1	550	+			16					Q9UD87	Missense_Mutation	SNP	ENST00000376261.3	37	c.47G>A	CCDS7149.1	.	.	.	.	.	.	.	.	.	.	G	18.79	3.698004	0.68386	.	.	ENSG00000136750	ENST00000376261;ENST00000259271;ENST00000428517	T;T;T	0.61510	0.1;0.1;0.1	4.92	4.92	0.64577	.	0.075107	0.52532	D	0.000066	T	0.68183	0.2973	L	0.38531	1.155	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.992	T	0.70400	-0.4882	10	0.54805	T	0.06	-16.0227	16.9203	0.86162	0.0:0.0:1.0:0.0	.	16;16	Q4G154;Q05329	.;DCE2_HUMAN	D	16	ENSP00000365437:G16D;ENSP00000259271:G16D;ENSP00000390434:G16D	ENSP00000259271:G16D	G	+	2	0	GAD2	26545791	1.000000	0.71417	1.000000	0.80357	0.299000	0.27559	5.787000	0.69013	2.282000	0.76494	0.455000	0.32223	GGC		0.637	GAD2-001	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047255.1	NM_000818		7	115	0	0	0	1	0	7	115					A	26505785	G	A	26505785	3	1	314	1	0	0	0	0	1	0	0	0	6180	1203	42	3	49	3	GAD2	10	26505785	Missense_Mutation	SNP	G	TCGA-KK-A6E3-01A-21D-A30E-08	50751	26505785	109028962	28	16141											
HIPK3	10114	broad.mit.edu	37	chr11	33308014	33308014	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtttatcaaactcagtcaagTgccttttgtagtgtgaagaa	12	14	9	6	0	3	2	3	1	0	1	3	2	3	2	1	0	2	2	1	0	6	5			TCGA-KK-A6E3-01A-21D-A30E-08	TCGA-KK-A6E3-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1106f74-3476-405d-93ad-b718d7f393bc	ee4e1c2b-7911-4e58-a5c2-5211c8d6ef54	g.chr11:33308014T>C	ENST00000303296.4	+	2	359	c.54T>C	c.(52-54)agT>agC	p.S18S	HIPK3_ENST00000379016.3_Silent_p.S18S|HIPK3_ENST00000525975.1_Silent_p.S18S|HIPK3_ENST00000456517.1_Silent_p.S18S	NM_005734.3	NP_005725.3	Q9H422	HIPK3_HUMAN	homeodomain interacting protein kinase 3	18					apoptotic process (GO:0006915)|mRNA transcription (GO:0009299)|negative regulation of apoptotic process (GO:0043066)|negative regulation of JUN kinase activity (GO:0043508)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|PML body (GO:0016605)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			endometrium(3)|kidney(3)|large_intestine(9)|liver(4)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	39						CTCAGTCAAGTGCCTTTTGTA	0.373																																						ENST00000303296.4																			0				endometrium(3)|kidney(3)|large_intestine(9)|liver(4)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	39						c.(52-54)agT>agC		homeodomain interacting protein kinase 3							62	58	59					11																	33308014		2202	4298	6500	SO:0001819	synonymous_variant	10114				anti-apoptosis|apoptosis|negative regulation of JUN kinase activity|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm	ATP binding|protein serine/threonine kinase activity	g.chr11:33308014T>C	AF004849	CCDS7884.1, CCDS41634.1	11p13	2008-07-18	2001-11-29		ENSG00000110422	ENSG00000110422			4915	protein-coding gene	gene with protein product		604424	"homeodomain-interacting protein kinase 3"			9373137, 9748262	Standard	NM_005734		Approved	PKY, DYRK6, YAK1, FIST3	uc031pzm.1	Q9H422	OTTHUMG00000132269	ENST00000303296.4:c.54T>C	11.37:g.33308014T>C						HIPK3_ENST00000525975.1_Silent_p.S18S|HIPK3_ENST00000379016.3_Silent_p.S18S|HIPK3_ENST00000456517.1_Silent_p.S18S	p.S18S	NM_005734.3	NP_005725.3	Q9H422	HIPK3_HUMAN			2	359	+			18					O14632|Q2PBG4|Q2PBG5|Q92632|Q9HAS2	Silent	SNP	ENST00000303296.4	37	c.54T>C	CCDS7884.1																																																																																				0.373	HIPK3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000255358.1	NM_005734		3	36	0	0	0	1	0	3	36					C	33308014	T	C	33308014	2	2	314	1	0	0	0	0	0	0	0	1	7118	1693	59	4		4	HIPK3	11	33308014	Silent	SNP	T	TCGA-KK-A6E3-01A-21D-A30E-08		33308014	101698502	29	16142											
MPEG1	219972	broad.mit.edu	37	chr11	58979777	58979777	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgccaggtaggtggccatccTcgtctggttgttctctagac	5	13	12	11	1	2	1	0	0	2	1	5	1	3	1	3	4	1	3	3	4	2	4			TCGA-KK-A6E3-01A-21D-A30E-08	TCGA-KK-A6E3-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1106f74-3476-405d-93ad-b718d7f393bc	ee4e1c2b-7911-4e58-a5c2-5211c8d6ef54	g.chr11:58979777T>G	ENST00000361050.3	-	1	647	c.562A>C	c.(562-564)Agg>Cgg	p.R188R	RN7SL42P_ENST00000579786.1_RNA	NM_001039396.1	NP_001034485.1	Q2M385	MPEG1_HUMAN	macrophage expressed 1	188	MACPF. {ECO:0000255|PROSITE- ProRule:PRU00745}.					integral component of membrane (GO:0016021)				NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(21)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		all_epithelial(135;0.125)				GTGGCCATCCTCGTCTGGTTG	0.527																																						ENST00000361050.3																			0				NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(21)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						c.(562-564)Agg>Cgg		macrophage expressed 1							118	110	113					11																	58979777		1982	4153	6135	SO:0001819	synonymous_variant	219972					integral to membrane		g.chr11:58979777T>G	AK097211	CCDS41650.1	11q12.1	2013-07-31				ENSG00000197629			29619	protein-coding gene	gene with protein product	"macrophage expressed gene 1"	610390				7888681, 23257510	Standard	NM_001039396		Approved	MPG1	uc001nnu.4	Q2M385		ENST00000361050.3:c.562A>C	11.37:g.58979777T>G							p.R188R	NM_001039396.1	NP_001034485.1	Q2M385	MPEG1_HUMAN			1	647	-		all_epithelial(135;0.125)	188			MACPF.		Q2M1T6|Q8TEF8	Silent	SNP	ENST00000361050.3	37	c.562A>C	CCDS41650.1																																																																																				0.527	MPEG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370027.1	NM_001039396		8	105	0	0	0	1	0	8	105					G	58979777	T	G	58979777	2	3	314	1	0	0	0	0	0	0	0	1	9723	1550	54	5		5	MPEG1	11	58979777	Silent	SNP	T	TCGA-KK-A6E3-01A-21D-A30E-08	25671763	58979777	76026739	30	16143											
FDXACB1	91893	broad.mit.edu	37	chr11	111745901	111745901	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttctgatctatccaaaaactAacatcatgcacataacatgg	16	11	4	10	0	3	1	1	1	2	0	4	1	4	1	1	1	4	1	1	1	5	4			TCGA-KK-A6E3-01A-21D-A30E-08	TCGA-KK-A6E3-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1106f74-3476-405d-93ad-b718d7f393bc	ee4e1c2b-7911-4e58-a5c2-5211c8d6ef54	g.chr11:111745901A>G	ENST00000260257.4	-	5	1667	c.1620T>C	c.(1618-1620)gtT>gtC	p.V540V	ALG9_ENST00000524880.1_Intron|FDXACB1_ENST00000542429.1_Silent_p.V391V|ALG9_ENST00000527377.1_Intron	NM_138378.2	NP_612387.1	Q9BRP7	FDXA1_HUMAN	ferredoxin-fold anticodon binding domain containing 1	540	FDX-ACB. {ECO:0000255|PROSITE- ProRule:PRU00778}.				phenylalanyl-tRNA aminoacylation (GO:0006432)|tRNA processing (GO:0008033)		ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|phenylalanine-tRNA ligase activity (GO:0004826)|tRNA binding (GO:0000049)			endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|upper_aerodigestive_tract(3)	19						TCCAAAAACTAACATCATGCA	0.383																																						ENST00000260257.4																			0				endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|upper_aerodigestive_tract(3)	19						c.(1618-1620)gtT>gtC		ferredoxin-fold anticodon binding domain containing 1							58	57	57					11																	111745901		1870	4100	5970	SO:0001819	synonymous_variant	91893				phenylalanyl-tRNA aminoacylation|tRNA processing		ATP binding|magnesium ion binding|phenylalanine-tRNA ligase activity|tRNA binding	g.chr11:111745901A>G		CCDS44729.1	11q23.1	2011-04-15			ENSG00000255561	ENSG00000255561			25110	protein-coding gene	gene with protein product	"hypothetical protein BC006136"						Standard	NR_038364		Approved	LOC91893, hCG_2033039	uc001pmc.4	Q9BRP7	OTTHUMG00000166795	ENST00000260257.4:c.1620T>C	11.37:g.111745901A>G						FDXACB1_ENST00000542429.1_Silent_p.V391V|ALG9_ENST00000527377.1_Intron|ALG9_ENST00000524880.1_Intron	p.V540V	NM_138378.2	NP_612387.1	Q9BRP7	FDXA1_HUMAN			5	1667	-			540			FDX-ACB.		A0PJW7|B4DUU2	Silent	SNP	ENST00000260257.4	37	c.1620T>C	CCDS44729.1																																																																																				0.383	FDXACB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391497.1	NM_138378		3	47	0	0	0	1	0	3	47					G	111745901	A	G	111745901	2	3	314	1	0	0	0	0	0	0	0	1	5806	349	13	4		4	FDXACB1	11	111745901	Silent	SNP	A	TCGA-KK-A6E3-01A-21D-A30E-08	52766124	111745901	23260615	31	16144											
ADIPOR2	79602	broad.mit.edu	37	chr12	1889767	1889767	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atggctcttccacacagtctActgccactcagagggggtct	8	10	10	13	0	4	1	1	0	3	1	5	1	5	1	2	3	2	1	2	3	1	2			TCGA-KK-A6E3-01A-21D-A30E-08	TCGA-KK-A6E3-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1106f74-3476-405d-93ad-b718d7f393bc	ee4e1c2b-7911-4e58-a5c2-5211c8d6ef54	g.chr12:1889767A>G	ENST00000357103.4	+	5	865	c.614A>G	c.(613-615)tAc>tGc	p.Y205C		NM_024551.2	NP_078827.2	Q86V24	ADR2_HUMAN	adiponectin receptor 2	205					adiponectin-activated signaling pathway (GO:0033211)|fatty acid oxidation (GO:0019395)|female pregnancy (GO:0007565)|heart development (GO:0007507)|hormone-mediated signaling pathway (GO:0009755)|negative regulation of cell growth (GO:0030308)|positive regulation of glucose import (GO:0046326)|response to nutrient (GO:0007584)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	hormone binding (GO:0042562)|receptor activity (GO:0004872)			endometrium(1)|large_intestine(3)|lung(7)|stomach(1)	12	Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.000382)			CACACAGTCTACTGCCACTCA	0.448																																						ENST00000357103.4																			0				endometrium(1)|large_intestine(3)|lung(7)|stomach(1)	12						c.(613-615)tAc>tGc		adiponectin receptor 2							147	149	148					12																	1889767		2203	4300	6503	SO:0001583	missense	79602				fatty acid oxidation|hormone-mediated signaling pathway	integral to membrane	hormone binding|receptor activity	g.chr12:1889767A>G	AY424280	CCDS8511.1	12p13	2012-08-22			ENSG00000006831	ENSG00000006831		"GPCR / Unclassified : Adiponectin receptors"	24041	protein-coding gene	gene with protein product		607946				12802337	Standard	NM_024551		Approved	PAQR2, ACDCR2	uc001qjm.3	Q86V24	OTTHUMG00000130139	ENST00000357103.4:c.614A>G	12.37:g.1889767A>G	ENSP00000349616:p.Tyr205Cys						p.Y205C	NM_024551.2	NP_078827.2	Q86V24	ADR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.000382)		5	865	+	Ovarian(42;0.107)		205					Q53YY5|Q9H737	Missense_Mutation	SNP	ENST00000357103.4	37	c.614A>G	CCDS8511.1	.	.	.	.	.	.	.	.	.	.	A	16.41	3.115224	0.56505	.	.	ENSG00000006831	ENST00000357103	T	0.28454	1.61	5.86	5.86	0.93980	.	0.000000	0.85682	D	0.000000	T	0.21387	0.0515	N	0.10874	0.06	0.80722	D	1	B	0.24618	0.107	B	0.29176	0.099	T	0.07065	-1.0792	10	0.39692	T	0.17	-18.178	16.255	0.82510	1.0:0.0:0.0:0.0	.	205	Q86V24	ADR2_HUMAN	C	205	ENSP00000349616:Y205C	ENSP00000349616:Y205C	Y	+	2	0	ADIPOR2	1760028	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.339000	0.96797	2.240000	0.73641	0.533000	0.62120	TAC		0.448	ADIPOR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252447.2	NM_024551		15	158	0	0	0	1	0	15	158					G	1889767	A	G	1889767	3	3	314	1	0	0	0	0	1	0	0	0	319	391	14	4	628	4	ADIPOR2	12	1889767	Missense_Mutation	SNP	A	TCGA-KK-A6E3-01A-21D-A30E-08		1889767	131962128	32	16145											
SLC2A14	144195	broad.mit.edu	37	chr12	7967015	7967015	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgcctgcccttcaaaggccCgtgtgatatcctcaaaagtc	9	10	9	13	1	2	1	2	1	0	0	4	1	3	1	4	1	2	0	4	1	4	2			TCGA-KK-A6E3-01A-21D-A30E-08	TCGA-KK-A6E3-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1106f74-3476-405d-93ad-b718d7f393bc	ee4e1c2b-7911-4e58-a5c2-5211c8d6ef54	g.chr12:7967015C>T	ENST00000543909.1	-	16	2219	c.1460G>A	c.(1459-1461)cGg>cAg	p.R487Q	SLC2A14_ENST00000340749.5_Missense_Mutation_p.R464Q|SLC2A14_ENST00000542505.1_Missense_Mutation_p.R128Q|SLC2A14_ENST00000539924.1_Missense_Mutation_p.R502Q|SLC2A14_ENST00000431042.2_Missense_Mutation_p.R464Q|SLC2A14_ENST00000542546.1_Missense_Mutation_p.R378Q|SLC2A14_ENST00000535295.1_Missense_Mutation_p.R378Q|SLC2A14_ENST00000396589.2_Missense_Mutation_p.R487Q			Q8TDB8	GTR14_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 14	487					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	glucose transmembrane transporter activity (GO:0005355)			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	38				Kidney(36;0.0883)		TTCAAAGGCCCGTGTGATATC	0.517																																						ENST00000543909.1																			0				central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	38						c.(1459-1461)cGg>cAg		solute carrier family 2 (facilitated glucose transporter), member 14							120	88	99					12																	7967015		2203	4300	6503	SO:0001583	missense	144195				cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane	glucose transmembrane transporter activity	g.chr12:7967015C>T	AF481878	CCDS8585.1, CCDS66300.1, CCDS66301.1, CCDS66302.1	12p13.31	2013-07-15			ENSG00000173262	ENSG00000173262		"Solute carriers"	18301	protein-coding gene	gene with protein product		611039	"solute carrier family 2 (facilitated glucose transporter), member 3 pseudogene 3"	SLC2A3P3		12504846	Standard	NM_001286234		Approved	GLUT14	uc001qtn.3	Q8TDB8	OTTHUMG00000168463	ENST00000543909.1:c.1460G>A	12.37:g.7967015C>T	ENSP00000440480:p.Arg487Gln					SLC2A14_ENST00000396589.2_Missense_Mutation_p.R487Q|SLC2A14_ENST00000431042.2_Missense_Mutation_p.R464Q|SLC2A14_ENST00000539924.1_Missense_Mutation_p.R502Q|SLC2A14_ENST00000535295.1_Missense_Mutation_p.R378Q|SLC2A14_ENST00000542546.1_Missense_Mutation_p.R378Q|SLC2A14_ENST00000542505.1_Missense_Mutation_p.R128Q|SLC2A14_ENST00000340749.5_Missense_Mutation_p.R464Q	p.R487Q			Q8TDB8	GTR14_HUMAN		Kidney(36;0.0883)	16	2219	-			487					B3KVB5|B3KWW7|B7Z844|B7ZAC3|Q6UY84|Q8TDB9	Missense_Mutation	SNP	ENST00000543909.1	37	c.1460G>A	CCDS8585.1	.	.	.	.	.	.	.	.	.	.	C	14.11	2.436519	0.43224	.	.	ENSG00000173262	ENST00000340749;ENST00000543909;ENST00000431042;ENST00000542505;ENST00000396589;ENST00000535295;ENST00000542546;ENST00000539924	T;T;T;T;T;T;T;T	0.74526	-0.85;-0.85;-0.85;-0.85;-0.85;-0.85;-0.85;-0.85	3.81	-0.444	0.12245	Major facilitator superfamily domain, general substrate transporter (1);	0.263966	0.38164	N	0.001792	T	0.48429	0.1499	N	0.16602	0.42	0.09310	N	0.999999	B;B;B;B	0.24721	0.11;0.027;0.051;0.057	B;B;B;B	0.22753	0.041;0.015;0.009;0.022	T	0.24225	-1.0166	10	0.16420	T	0.52	.	4.6099	0.12397	0.0:0.4381:0.1619:0.4	.	502;378;464;487	B7ZAC3;B7Z844;Q8TDB8-2;Q8TDB8	.;.;.;GTR14_HUMAN	Q	464;487;464;128;487;378;378;502	ENSP00000340450:R464Q;ENSP00000440480:R487Q;ENSP00000407287:R464Q;ENSP00000438484:R128Q;ENSP00000379834:R487Q;ENSP00000440492:R378Q;ENSP00000443903:R378Q;ENSP00000445929:R502Q	ENSP00000340450:R464Q	R	-	2	0	SLC2A14	7858282	0.001000	0.12720	0.047000	0.18901	0.899000	0.52679	-0.098000	0.11024	-0.069000	0.12931	-0.459000	0.05422	CGG		0.517	SLC2A14-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000399836.2	NM_153449		4	159	0	0	0	1	0	4	159					T	7967015	C	T	7967015	3	4	314	1	0	0	0	0	1	0	0	0	14543	652	23	2	106	2	SLC2A14	12	7967015	Missense_Mutation	SNP	C	TCGA-KK-A6E3-01A-21D-A30E-08	6077248	7967015	125884880	33	16146											
GRIN2B	2904	broad.mit.edu	37	chr12	13724865	13724865	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gttgggcacggtcccaaagcGgaaagggggtgagaagtcat	11	6	17	7	2	1	1	1	1	0	1	2	3	2	2	1	5	1	2	1	5	3	1	rs387906636		TCGA-KK-A6E3-01A-21D-A30E-08	TCGA-KK-A6E3-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1106f74-3476-405d-93ad-b718d7f393bc	ee4e1c2b-7911-4e58-a5c2-5211c8d6ef54	g.chr12:13724865G>A	ENST00000609686.1	-	10	2253	c.2044C>T	c.(2044-2046)Cgc>Tgc	p.R682C		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	682			R -> C (in MRD6; analysis of agonist dose-response curves reveal no differences in the affinities of wild- type and mutant receptors for glutamate and glycine). {ECO:0000269|PubMed:20890276}.		behavioral fear response (GO:0001662)|behavioral response to pain (GO:0048266)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|glutamate receptor signaling pathway (GO:0007215)|in utero embryonic development (GO:0001701)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning (GO:0007612)|learning or memory (GO:0007611)|memory (GO:0007613)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of synaptic plasticity (GO:0048167)|response to ethanol (GO:0045471)|sensory organ development (GO:0007423)|startle response (GO:0001964)|suckling behavior (GO:0001967)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Haloperidol(DB00502)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	GTCCCAAAGCGGAAAGGGGGT	0.488																																						ENST00000279593.3																			0				NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143						c.(2044-2046)Cgc>Tgc		glutamate receptor, ionotropic, N-methyl D-aspartate 2B	Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)						101	83	89					12																	13724865		2203	4300	6503	SO:0001583	missense	2904				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	g.chr12:13724865G>A		CCDS8662.1	12p13.1	2014-07-16			ENSG00000273079			"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4586	protein-coding gene	gene with protein product		138252		NMDAR2B		1350383	Standard	NM_000834		Approved	GluN2B	uc001rbt.2	Q13224	OTTHUMG00000137373	ENST00000609686.1:c.2044C>T	12.37:g.13724865G>A	ENSP00000477455:p.Arg682Cys						p.R682C	NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN			10	2253	-			682					Q12919|Q13220|Q13225|Q14CU4|Q9UM56	Missense_Mutation	SNP	ENST00000609686.1	37	c.2044C>T	CCDS8662.1	.	.	.	.	.	.	.	.	.	.	G	34	5.385529	0.95967	.	.	ENSG00000150086	ENST00000279593	T	0.31769	1.48	5.73	5.73	0.89815	Extracellular solute-binding protein, family 3 (1);Ionotropic glutamate receptor (2);	0.000000	0.85682	D	0.000000	T	0.61590	0.2359	M	0.79693	2.465	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.63747	-0.6567	10	0.87932	D	0	.	20.2602	0.98440	0.0:0.0:1.0:0.0	.	682	Q13224	NMDE2_HUMAN	C	682	ENSP00000279593:R682C	ENSP00000279593:R682C	R	-	1	0	GRIN2B	13616132	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.807000	0.99171	2.861000	0.98227	0.655000	0.94253	CGC		0.488	GRIN2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268014.2			4	36	0	0	0	1	0	4	36					A	13724865	G	A	13724865	3	1	314	1	0	0	0	0	1	0	0	0	6780	1116	39	2	2426	2	GRIN2B	12	13724865	Missense_Mutation	SNP	G	TCGA-KK-A6E3-01A-21D-A30E-08	5757850	13724865	120127030	34	16147											
MLL2	8085	broad.mit.edu	37	chr12	49416433	49416433	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttccgaatgatggtgccaatGtactcgataaccattgtgtg	10	13	10	8	2	0	1	0	1	0	0	2	3	1	1	3	1	3	1	3	1	4	4			TCGA-KK-A6E3-01A-21D-A30E-08	TCGA-KK-A6E3-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1106f74-3476-405d-93ad-b718d7f393bc	ee4e1c2b-7911-4e58-a5c2-5211c8d6ef54	g.chr12:49416433G>C	ENST00000301067.7	-	51	16277	c.16278C>G	c.(16276-16278)taC>taG	p.Y5426*		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	5426	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)										TGGTGCCAATGTACTCGATAA	0.552																																						ENST00000301067.7																			0											c.(16276-16278)taC>taG		lysine (K)-specific methyltransferase 2D							185	191	189					12																	49416433		2036	4170	6206	SO:0001587	stop_gained	8085							g.chr12:49416433G>C	AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	7133	protein-coding gene	gene with protein product		602113	"trinucleotide repeat containing 21", "myeloid/lymphoid or mixed-lineage leukemia 2"	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.16278C>G	12.37:g.49416433G>C	ENSP00000301067:p.Tyr5426*						p.Y5426*	NM_003482.3	NP_003473.3					51	16277	-								O14687	Nonsense_Mutation	SNP	ENST00000301067.7	37	c.16278C>G	CCDS44873.1	.	.	.	.	.	.	.	.	.	.	G	56	25.352275	0.99964	.	.	ENSG00000167548	ENST00000301067;ENST00000526209	.	.	.	5.09	-0.117	0.13551	.	0.000000	0.33959	N	0.004386	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	9.8645	0.41134	0.5724:0.0:0.4276:0.0	.	.	.	.	X	5426;107	.	ENSP00000301067:Y5426X	Y	-	3	2	MLL2	47702700	1.000000	0.71417	0.993000	0.49108	0.980000	0.70556	2.571000	0.45990	-0.228000	0.09869	-0.229000	0.12294	TAC		0.552	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2			55	239	0	0	0	1	0	55	239					C	49416433	G	C	49416433	4	2	314	1	0	0	0	0	0	1	0	0	9621	1372	48	5	351	5	MLL2	12	49416433	Nonsense_Mutation	SNP	G	TCGA-KK-A6E3-01A-21D-A30E-08	35691568	49416433	84435462	35	16148											
FMNL3	91010	broad.mit.edu	37	chr12	50041125	50041125	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attacctcctcctgcttcttGcgggcttcattctcttgttc	3	18	6	14	1	3	0	1	0	2	0	7	0	5	0	3	1	3	3	3	1	1	7			TCGA-KK-A6E3-01A-21D-A30E-08	TCGA-KK-A6E3-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1106f74-3476-405d-93ad-b718d7f393bc	ee4e1c2b-7911-4e58-a5c2-5211c8d6ef54	g.chr12:50041125G>T	ENST00000293590.5	-	24	3038	c.2805C>A	c.(2803-2805)cgC>cgA	p.R935R	FMNL3_ENST00000550488.1_Silent_p.R934R|FMNL3_ENST00000335154.5_Silent_p.R935R|FMNL3_ENST00000352151.5_Silent_p.R884R			Q8IVF7	FMNL3_HUMAN	formin-like 3	935	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.				actin cytoskeleton organization (GO:0030036)|cell migration (GO:0016477)|cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)	GTPase activating protein binding (GO:0032794)			breast(4)|endometrium(7)|kidney(2)|large_intestine(6)|lung(11)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|stomach(1)	39						CCTGCTTCTTGCGGGCTTCAT	0.597																																						ENST00000335154.5																			0				breast(4)|endometrium(7)|kidney(2)|large_intestine(6)|lung(11)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|stomach(1)	39						c.(2803-2805)cgC>cgA		formin-like 3							88	92	91					12																	50041125		2011	4173	6184	SO:0001819	synonymous_variant	91010				actin cytoskeleton organization		actin binding|Rho GTPase binding	g.chr12:50041125G>T	AK128195	CCDS41780.1, CCDS44874.1	12q13.12	2006-04-10							23698	protein-coding gene	gene with protein product						12684686	Standard	NM_198900		Approved	DKFZp762B245, MGC45819, WBP3	uc001ruv.1	Q8IVF7	OTTHUMG00000169651	ENST00000293590.5:c.2805C>A	12.37:g.50041125G>T						FMNL3_ENST00000550488.1_Silent_p.R934R|FMNL3_ENST00000352151.5_Silent_p.R884R|FMNL3_ENST00000293590.5_Silent_p.R935R	p.R935R	NM_175736.4	NP_783863.4	Q8IVF7	FMNL3_HUMAN			24	3038	-			935			FH2.		B0JZA7|Q6ZRJ1	Silent	SNP	ENST00000293590.5	37	c.2805C>A																																																																																					0.597	FMNL3-201	KNOWN	basic	protein_coding	protein_coding		NM_175736		8	114	1	0	0.00448238	1	0.00468308	8	114					T	50041125	G	T	50041125	2	4	314	1	0	0	0	0	0	0	0	1	5953	1306	46	5		5	FMNL3	12	50041125	Silent	SNP	G	TCGA-KK-A6E3-01A-21D-A30E-08	624692	50041125	83810770	36	16149											
MYL6B	140465	broad.mit.edu	37	chr12	56549344	56549344	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	ggggaacggcaaagtcatggGagcagagctcagacatgttc	12	6	15	8	1	2	2	2	0	0	2	3	4	2	4	0	4	3	4	0	4	2	1			TCGA-KK-A6E3-01A-21D-A30E-08	TCGA-KK-A6E3-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1106f74-3476-405d-93ad-b718d7f393bc	ee4e1c2b-7911-4e58-a5c2-5211c8d6ef54	g.chr12:56549344G>C	ENST00000553066.1	+	5	910	c.488G>C	c.(487-489)gGa>gCa	p.G163A	MYL6B_ENST00000550443.1_Missense_Mutation_p.G163A|MYL6_ENST00000548580.1_5'Flank|MYL6B_ENST00000207437.5_Missense_Mutation_p.G163A|RP11-603J24.14_ENST00000548731.1_RNA|MYL6_ENST00000547649.1_5'Flank|MYL6_ENST00000293422.5_5'Flank|MYL6_ENST00000551589.1_5'Flank|MYL6_ENST00000549566.1_5'Flank|MYL6_ENST00000549017.1_5'Flank|MYL6_ENST00000550697.1_5'Flank|MYL6B_ENST00000552568.1_Intron|MYL6_ENST00000547408.1_5'Flank|MYL6_ENST00000348108.4_5'Flank|MYL6_ENST00000536128.1_5'Flank|MYL6_ENST00000548293.1_5'Flank|MYL6_ENST00000548400.1_5'Flank|MYL6B_ENST00000550152.1_3'UTR			P14649	MYL6B_HUMAN	myosin, light chain 6B, alkali, smooth muscle and non-muscle	163	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.				metabolic process (GO:0008152)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|skeletal muscle tissue development (GO:0007519)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myosin complex (GO:0016459)|unconventional myosin complex (GO:0016461)	calcium ion binding (GO:0005509)|motor activity (GO:0003774)|structural constituent of muscle (GO:0008307)			endometrium(2)|kidney(1)|large_intestine(4)	7			OV - Ovarian serous cystadenocarcinoma(18;0.0979)			AAAGTCATGGGAGCAGAGCTC	0.567																																						ENST00000553066.1																			0				endometrium(2)|kidney(1)|large_intestine(4)	7						c.(487-489)gGa>gCa		myosin, light chain 6B, alkali, smooth muscle and non-muscle							149	131	137					12																	56549344		2203	4300	6503	SO:0001583	missense	140465				muscle filament sliding|skeletal muscle tissue development	cytosol|muscle myosin complex|unconventional myosin complex	calcium ion binding|motor activity|protein binding|structural constituent of muscle	g.chr12:56549344G>C	M31211	CCDS8905.1	12q13.2	2013-01-10	2006-09-29			ENSG00000196465		"Myosins / Light chain", "EF-hand domain containing"	29823	protein-coding gene	gene with protein product	"myosin light chain 1 slow a"	609930	"myosin, light polypeptide 6B, alkali, smooth muscle and non-muscle"			2602161, 2304459	Standard	NM_002475		Approved	MLC1SA	uc001sjs.3	P14649		ENST00000553066.1:c.488G>C	12.37:g.56549344G>C	ENSP00000450385:p.Gly163Ala					MYL6B_ENST00000550152.1_3'UTR|MYL6B_ENST00000550443.1_Missense_Mutation_p.G163A|MYL6B_ENST00000552568.1_Intron|RP11-603J24.14_ENST00000548731.1_RNA|MYL6B_ENST00000207437.5_Missense_Mutation_p.G163A	p.G163A			P14649	MYL6B_HUMAN	OV - Ovarian serous cystadenocarcinoma(18;0.0979)		5	910	+			163			EF-hand 2.			Missense_Mutation	SNP	ENST00000553066.1	37	c.488G>C	CCDS8905.1	.	.	.	.	.	.	.	.	.	.	G	17.80	3.478047	0.63849	.	.	ENSG00000196465	ENST00000553066;ENST00000550443;ENST00000207437	D;D;D	0.85955	-2.05;-2.05;-2.05	5.38	5.38	0.77491	EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	T	0.78278	0.4258	N	0.01277	-0.915	0.80722	D	1	B;D	0.69078	0.067;0.997	B;P	0.61592	0.056;0.891	T	0.81099	-0.1086	10	0.21540	T	0.41	-12.0517	18.2845	0.90110	0.0:0.0:1.0:0.0	.	163;163	B4E368;P14649	.;MYL6B_HUMAN	A	163	ENSP00000450385:G163A;ENSP00000446643:G163A;ENSP00000207437:G163A	ENSP00000207437:G163A	G	+	2	0	MYL6B	54835611	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.461000	0.97646	2.710000	0.92621	0.491000	0.48974	GGA		0.567	MYL6B-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407920.2	NM_002475		9	161	0	0	0	1	0	9	161					C	56549344	G	C	56549344	3	2	314	1	0	0	0	0	1	0	0	0	10052	1174	41	5	502	5	MYL6B	12	56549344	Missense_Mutation	SNP	G	TCGA-KK-A6E3-01A-21D-A30E-08	6508219	56549344	77302551	37	16150											
PAN2	10330	broad.mit.edu	37	chr12	56711419	56711419	+	5'Flank	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgccagcactgaggagaagaCagctgcatctgtcagagaca	13	5	12	11	1	2	4	1	1	1	3	2	6	2	4	1	1	3	3	1	1	1	0			TCGA-KK-A6E3-01A-21D-A30E-08	TCGA-KK-A6E3-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1106f74-3476-405d-93ad-b718d7f393bc	ee4e1c2b-7911-4e58-a5c2-5211c8d6ef54	g.chr12:56711419C>T	ENST00000273308.4	-	0	0				PAN2_ENST00000548043.1_Missense_Mutation_p.V1195I|RP11-977G19.10_ENST00000549318.1_5'Flank|PAN2_ENST00000257931.5_Missense_Mutation_p.V1194I|PAN2_ENST00000425394.2_Missense_Mutation_p.V1195I|PAN2_ENST00000440411.3_Missense_Mutation_p.V1191I|PAN2_ENST00000549090.1_5'UTR|RP11-977G19.11_ENST00000549565.1_RNA|RP11-977G19.11_ENST00000549860.1_RNA|CNPY2_ENST00000551720.1_5'Flank	NM_014255.5	NP_055070.1	Q9Y2B0	CNPY2_HUMAN	canopy FGF signaling regulator 2						negative regulation of gene expression (GO:0010629)|positive regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045716)|regulation of low-density lipoprotein particle clearance (GO:0010988)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)				large_intestine(2)|lung(2)	4						GAGGAGAAGACAGCTGCATCT	0.463																																						ENST00000425394.2																			0				NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						c.(3583-3585)Gtc>Atc		PAN2 poly(A) specific ribonuclease subunit homolog (S. cerevisiae)							92	86	88					12																	56711419		2203	4300	6503	SO:0001631	upstream_gene_variant	9924				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|ubiquitin-dependent protein catabolic process	cytosol|nucleus	nucleic acid binding|poly(A)-specific ribonuclease activity|ubiquitin thiolesterase activity	g.chr12:56711419C>T	AB015631	CCDS8914.1	12q15	2013-07-23	2013-07-23	2007-10-22		ENSG00000257727			13529	protein-coding gene	gene with protein product		605861	"transmembrane protein 4", "canopy 2 homolog (zebrafish)"	TMEM4		10072769, 15905959	Standard	NM_001190991		Approved	HP10390, ZSIG9, Cnpy2	uc001sku.2	Q9Y2B0	OTTHUMG00000170330		12.37:g.56711419C>T	Exception_encountered					PAN2_ENST00000257931.5_Missense_Mutation_p.V1194I|PAN2_ENST00000549090.1_5'UTR|PAN2_ENST00000548043.1_Missense_Mutation_p.V1195I|PAN2_ENST00000440411.3_Missense_Mutation_p.V1191I	p.V1195I	NM_001127460.2	NP_001120932.1	Q504Q3	PAN2_HUMAN			26	3959	-			1195					B2R7B9|Q9UHE9	Missense_Mutation	SNP	ENST00000273308.4	37	c.3583G>A	CCDS8914.1	.	.	.	.	.	.	.	.	.	.	C	16.50	3.141295	0.57044	.	.	ENSG00000135473	ENST00000425394;ENST00000440411;ENST00000257931;ENST00000548043	T;T;T;T	0.24538	1.85;1.86;1.85;1.85	4.55	4.55	0.56014	.	0.687384	0.13125	N	0.411921	T	0.22475	0.0542	L	0.36672	1.1	0.37085	D	0.899176	P;P;B	0.37207	0.587;0.587;0.452	B;B;B	0.35114	0.196;0.196;0.096	T	0.18903	-1.0322	10	0.59425	D	0.04	-6.9718	13.0181	0.58771	0.0:1.0:0.0:0.0	.	1194;1191;1195	Q504Q3-3;Q504Q3-2;Q504Q3	.;.;PAN2_HUMAN	I	1195;1191;1194;1195	ENSP00000401721:V1195I;ENSP00000388231:V1191I;ENSP00000257931:V1194I;ENSP00000449861:V1195I	ENSP00000257931:V1194I	V	-	1	0	PAN2	54997686	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.081000	0.50120	2.538000	0.85594	0.563000	0.77884	GTC		0.463	CNPY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408546.1	NM_014255		5	49	0	0	0	1	0	5	49					T	56711419	C	T	56711419	1	4	314	0	1	0	0	0	0	0	0	0	11414	478	17	3		3	PAN2	12	56711419	5'Flank	SNP	C	TCGA-KK-A6E3-01A-21D-A30E-08	162075	56711419	77140476	38	16151											
NACA	4666	broad.mit.edu	37	chr12	57112089	57112089	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ggagtgggggcccccttgagGgatggggtagctggacctcc	5	7	19	10	0	0	1	0	1	0	0	1	4	1	4	4	7	1	2	4	7	1	2			TCGA-KK-A6E3-01A-21D-A30E-08	TCGA-KK-A6E3-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1106f74-3476-405d-93ad-b718d7f393bc	ee4e1c2b-7911-4e58-a5c2-5211c8d6ef54	g.chr12:57112089G>A	ENST00000454682.1	-	3	3506	c.3225C>T	c.(3223-3225)tcC>tcT	p.S1075S	NACA_ENST00000356769.3_Intron|NACA_ENST00000548563.1_Intron|NACA_ENST00000393891.4_Intron|NACA_ENST00000546392.1_Intron|NACA_ENST00000550952.1_Intron|NACA_ENST00000552540.1_Intron|NACA_ENST00000551793.1_Intron	NM_001113203.2	NP_001106674.2	E9PAV3	NACAM_HUMAN	nascent polypeptide-associated complex alpha subunit	1075	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						CCCCCTTGAGGGATGGGGTAG	0.667			T	BCL6	NHL																																	ENST00000454682.1				Dom	yes		12	12q23-q24.1	4666	T	nascent-polypeptide-associated complex alpha polypeptide			L	BCL6		NHL		0				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						c.(3223-3225)tcC>tcT		nascent polypeptide-associated complex alpha subunit							36	41	40					12																	57112089		1403	3252	4655	SO:0001819	synonymous_variant	4666				interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation	nascent polypeptide-associated complex|nucleus	DNA binding	g.chr12:57112089G>A	X80909	CCDS31837.1, CCDS44925.1, CCDS44925.2	12q23-q24.1	2008-09-05	2007-04-20		ENSG00000196531	ENSG00000196531			7629	protein-coding gene	gene with protein product		601234	"nascent-polypeptide-associated complex alpha polypeptide"			8047162	Standard	NM_001113202		Approved	NACA1	uc001sma.2	E9PAV3		ENST00000454682.1:c.3225C>T	12.37:g.57112089G>A						NACA_ENST00000356769.3_Intron|NACA_ENST00000546392.1_Intron|NACA_ENST00000393891.4_Intron|NACA_ENST00000548563.1_Intron|NACA_ENST00000550952.1_Intron|NACA_ENST00000552540.1_Intron|NACA_ENST00000551793.1_Intron	p.S1075S	NM_001113203.2	NP_001106674.2	Q13765	NACA_HUMAN			3	3506	-			0						Silent	SNP	ENST00000454682.1	37	c.3225C>T																																																																																					0.667	NACA-201	KNOWN	basic	protein_coding	protein_coding		NM_005594		5	115	0	0	0	1	0	5	115					A	57112089	G	A	57112089	2	1	314	1	0	0	0	0	0	0	0	1	10133	1219	43	3		3	NACA	12	57112089	Silent	SNP	G	TCGA-KK-A6E3-01A-21D-A30E-08	400670	57112089	76739806	39	16152											
C13orf23	80209	broad.mit.edu	37	chr13	39586310	39586310	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaggaaacccagggataccCgggagggacaaaaggcctgg	13	3	16	9	1	0	1	0	1	0	0	0	5	0	5	3	6	2	0	3	6	4	1	rs370484502		TCGA-KK-A6E3-01A-21D-A30E-08	TCGA-KK-A6E3-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1106f74-3476-405d-93ad-b718d7f393bc	ee4e1c2b-7911-4e58-a5c2-5211c8d6ef54	g.chr13:39586310C>T	ENST00000352251.3	-	12	3455	c.2622G>A	c.(2620-2622)ccG>ccA	p.P874P	PROSER1_ENST00000350125.3_Silent_p.P852P|PROSER1_ENST00000484434.3_5'UTR	NM_025138.4	NP_079414.3	Q86XN7	PRSR1_HUMAN	proline and serine rich 1	874								p.P874P(1)									CAGGGATACCCGGGAGGGACA	0.453																																						ENST00000352251.3																			1	Substitution - coding silent(1)	p.P874P(1)	lung(1)								c.(2620-2622)ccG>ccA		proline and serine rich 1		C	,	0,4406		0,0,2203	145	163	157		2622,2556	-5.5	0.9	13		157	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	PROSER1	NM_025138.3,NM_170719.2	,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,	874/945,852/923	39586310	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	80209							g.chr13:39586310C>T	AK022723	CCDS9368.2	13q13.2	2011-08-09	2011-08-09	2011-08-09	ENSG00000120685	ENSG00000120685			20291	protein-coding gene	gene with protein product			"chromosome 13 open reading frame 23"	C13orf23			Standard	NM_025138		Approved	bA50D16.2, FLJ12661	uc001uwy.4	Q86XN7	OTTHUMG00000016764	ENST00000352251.3:c.2622G>A	13.37:g.39586310C>T						PROSER1_ENST00000484434.2_5'UTR|PROSER1_ENST00000350125.3_Silent_p.P852P	p.P874P	NM_025138.3	NP_079414.3	Q86XN7	CM023_HUMAN			12	3455	-			874					A6NJ97|Q6P2S2|Q7Z3X5|Q8N3D2|Q8N3P1|Q9H9M1	Silent	SNP	ENST00000352251.3	37	c.2622G>A	CCDS9368.2																																																																																				0.453	PROSER1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044607.5	NM_025138		18	278	0	0	0	1	0	18	278					T	39586310	C	T	39586310	2	4	314	1	0	0	0	0	0	0	0	1	1721	639	23	2		2	C13orf23	13	39586310	Silent	SNP	C	TCGA-KK-A6E3-01A-21D-A30E-08		39586310	75583568	40	16153											
CDH24	64403	broad.mit.edu	37	chr14	23524544	23524544	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cttggtgcggccctctccccGgtcaacatccgagtgcagct	5	9	11	16	3	2	0	1	0	1	0	4	1	3	0	4	3	4	2	4	3	1	1			TCGA-KK-A6E3-01A-21D-A30E-08	TCGA-KK-A6E3-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1106f74-3476-405d-93ad-b718d7f393bc	ee4e1c2b-7911-4e58-a5c2-5211c8d6ef54	g.chr14:23524544G>A	ENST00000267383.5	-	2	312	c.220C>T	c.(220-222)Cgg>Tgg	p.R74W	CDH24_ENST00000554034.1_Missense_Mutation_p.R74W|CDH24_ENST00000397359.3_Missense_Mutation_p.R74W|CDH24_ENST00000487137.2_Missense_Mutation_p.R74W			Q86UP0	CAD24_HUMAN	cadherin 24, type 2	74	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)|delta-catenin binding (GO:0070097)			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	26	all_cancers(95;3.3e-05)			GBM - Glioblastoma multiforme(265;0.00654)		CCCTCTCCCCGGTCAACATCC	0.557											OREG0022594	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000397359.3																			0				breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	26						c.(220-222)Cgg>Tgg		cadherin 24, type 2							45	50	49					14																	23524544		2203	4300	6503	SO:0001583	missense	64403				adherens junction organization|cell junction assembly|cell-cell adhesion|homophilic cell adhesion	cell-cell junction|integral to membrane	alpha-catenin binding|beta-catenin binding|calcium ion binding|delta-catenin binding	g.chr14:23524544G>A	AL137477	CCDS9585.1, CCDS9586.1	14q11.2	2010-08-20	2009-11-20		ENSG00000139880	ENSG00000139880		"Cadherins / Major cadherins"	14265	protein-coding gene	gene with protein product			"cadherin-like 24"			12734196	Standard	NM_022478		Approved	CDH11L	uc001wil.3	Q86UP0	OTTHUMG00000028715	ENST00000267383.5:c.220C>T	14.37:g.23524544G>A	ENSP00000267383:p.Arg74Trp		OREG0022594	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	764	CDH24_ENST00000554034.1_Missense_Mutation_p.R74W|CDH24_ENST00000267383.5_Missense_Mutation_p.R74W|CDH24_ENST00000487137.2_Missense_Mutation_p.R74W	p.R74W	NM_022478.3	NP_071923.2	Q86UP0	CAD24_HUMAN		GBM - Glioblastoma multiforme(265;0.00654)	3	479	-	all_cancers(95;3.3e-05)		74			Cadherin 1.		D3DS44|Q86UP1|Q9NT84	Missense_Mutation	SNP	ENST00000267383.5	37	c.220C>T	CCDS9585.1	.	.	.	.	.	.	.	.	.	.	G	15.30	2.791284	0.50102	.	.	ENSG00000139880	ENST00000397359;ENST00000487137;ENST00000422751;ENST00000554034;ENST00000267383	T;T;T;T	0.52295	0.67;0.67;0.67;0.67	3.89	-0.95	0.10372	Cadherin (4);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.63768	0.2539	M	0.72118	2.19	0.47065	D	0.999305	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.992;0.987;0.997	T	0.64546	-0.6382	10	0.87932	D	0	.	13.5074	0.61491	0.0:0.0:0.436:0.564	.	74;74;74	Q86UP0-2;Q96LQ7;Q86UP0	.;.;CAD24_HUMAN	W	74	ENSP00000380517:R74W;ENSP00000434821:R74W;ENSP00000452493:R74W;ENSP00000267383:R74W	ENSP00000267383:R74W	R	-	1	2	CDH24	22594384	0.000000	0.05858	0.994000	0.49952	0.997000	0.91878	-0.373000	0.07494	-0.490000	0.06707	0.462000	0.41574	CGG		0.557	CDH24-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000257241.2	NM_022478		5	75	0	0	0	1	0	5	75					A	23524544	G	A	23524544	3	1	314	1	0	0	0	0	1	0	0	0	3109	1115	39	2	2283	2	CDH24	14	23524544	Missense_Mutation	SNP	G	TCGA-KK-A6E3-01A-21D-A30E-08		23524544	83824996	41	16154											
PYGL	5836	broad.mit.edu	37	chr14	51372228	51372228	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggtcactggagaatttccccGaggcagctatgtttttgagt	8	13	12	8	1	1	2	1	1	0	1	2	4	2	2	2	3	1	3	2	3	2	4			TCGA-KK-A6E3-01A-21D-A30E-08	TCGA-KK-A6E3-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1106f74-3476-405d-93ad-b718d7f393bc	ee4e1c2b-7911-4e58-a5c2-5211c8d6ef54	g.chr14:51372228G>A	ENST00000216392.7	-	20	2758	c.2426C>T	c.(2425-2427)tCg>tTg	p.S809L	PYGL_ENST00000544180.2_Missense_Mutation_p.S775L|PYGL_ENST00000532462.1_Intron	NM_002863.4	NP_002854.3	P06737	PYGL_HUMAN	phosphorylase, glycogen, liver	809					5-phosphoribose 1-diphosphate biosynthetic process (GO:0006015)|carbohydrate metabolic process (GO:0005975)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|glycogen metabolic process (GO:0005977)|necroptotic process (GO:0070266)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	AMP binding (GO:0016208)|ATP binding (GO:0005524)|bile acid binding (GO:0032052)|drug binding (GO:0008144)|glucose binding (GO:0005536)|glycogen phosphorylase activity (GO:0008184)|protein homodimerization activity (GO:0042803)|purine nucleobase binding (GO:0002060)|pyridoxal phosphate binding (GO:0030170)|vitamin binding (GO:0019842)			NS(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)|skin(3)	25	all_epithelial(31;0.00825)|Breast(41;0.148)				Adenosine monophosphate(DB00131)	GAATTTCCCCGAGGCAGCTAT	0.423																																						ENST00000216392.7																			0				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)|skin(3)	25						c.(2425-2427)tCg>tTg		phosphorylase, glycogen, liver	Adenosine monophosphate(DB00131)|Pyridoxal Phosphate(DB00114)|Riboflavin(DB00140)						157	149	152					14																	51372228		2203	4300	6503	SO:0001583	missense	5836				glucose homeostasis|glucose metabolic process|glycogen catabolic process	cytosol|soluble fraction	AMP binding|ATP binding|bile acid binding|drug binding|glucose binding|glycogen phosphorylase activity|protein homodimerization activity|purine base binding|pyridoxal phosphate binding	g.chr14:51372228G>A		CCDS32080.1, CCDS53894.1	14q11.2-q24.3	2013-03-01	2008-07-31		ENSG00000100504	ENSG00000100504	2.4.1.1	"Glycogen phosphorylases"	9725	protein-coding gene	gene with protein product	"Hers disease", "glycogen storage disease type VI", "glycogen phosphorylase, liver form"	613741	"phosphorylase, glycogen; liver"			2877458	Standard	NM_002863		Approved		uc001wyu.3	P06737	OTTHUMG00000166596	ENST00000216392.7:c.2426C>T	14.37:g.51372228G>A	ENSP00000216392:p.Ser809Leu					PYGL_ENST00000544180.2_Missense_Mutation_p.S775L|PYGL_ENST00000532462.1_Intron	p.S809L	NM_002863.4	NP_002854.3	P06737	PYGL_HUMAN			20	2758	-	all_epithelial(31;0.00825)|Breast(41;0.148)		809					A6NDQ4|B4DUB7|F5H816|O60567|O60752|O60913|Q501V9|Q641R5|Q96G82	Missense_Mutation	SNP	ENST00000216392.7	37	c.2426C>T	CCDS32080.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.118057	0.77323	.	.	ENSG00000100504	ENST00000544180;ENST00000216392	D;D	0.93133	-3.17;-3.17	6.07	5.17	0.71159	.	0.291575	0.38897	N	0.001522	D	0.95629	0.8579	M	0.80028	2.48	0.48087	D	0.999586	B;B;D	0.55385	0.086;0.378;0.971	B;B;P	0.55713	0.057;0.362;0.782	D	0.95440	0.8524	10	0.51188	T	0.08	-2.3533	15.277	0.73750	0.0:0.0:0.8586:0.1414	.	775;775;809	F5H816;B4DUB7;P06737	.;.;PYGL_HUMAN	L	775;809	ENSP00000443787:S775L;ENSP00000216392:S809L	ENSP00000216392:S809L	S	-	2	0	PYGL	50441978	1.000000	0.71417	0.867000	0.34043	0.572000	0.35998	9.869000	0.99810	1.534000	0.49203	0.655000	0.94253	TCG		0.423	PYGL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390654.3	NM_002863		13	108	0	0	0	1	0	13	108					A	51372228	G	A	51372228	3	1	314	1	0	0	0	0	1	0	0	0	12861	1059	37	2	121	2	PYGL	14	51372228	Missense_Mutation	SNP	G	TCGA-KK-A6E3-01A-21D-A30E-08	27847684	51372228	55977312	42	16155											
MTHFD1	4522	broad.mit.edu	37	chr14	64909076	64909076	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcccccacgtggtggtgcttGttgccactgtcagggctctc	3	11	13	14	1	2	0	1	0	1	0	3	0	2	0	3	3	2	3	3	3	0	2	rs530768829		TCGA-KK-A6E3-01A-21D-A30E-08	TCGA-KK-A6E3-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1106f74-3476-405d-93ad-b718d7f393bc	ee4e1c2b-7911-4e58-a5c2-5211c8d6ef54	g.chr14:64909076G>T	ENST00000545908.1	+	21	2489	c.2260G>T	c.(2260-2262)Gtt>Ttt	p.V754F	MTHFD1_ENST00000216605.8_Missense_Mutation_p.V698F|CTD-2555O16.2_ENST00000556640.1_RNA|CTD-2555O16.4_ENST00000609125.1_RNA			P11586	C1TC_HUMAN	methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1, methenyltetrahydrofolate cyclohydrolase, formyltetrahydrofolate synthetase	698	Formyltetrahydrofolate synthetase.				folic acid metabolic process (GO:0046655)|folic acid-containing compound biosynthetic process (GO:0009396)|histidine biosynthetic process (GO:0000105)|methionine biosynthetic process (GO:0009086)|one-carbon metabolic process (GO:0006730)|purine nucleotide biosynthetic process (GO:0006164)|small molecule metabolic process (GO:0044281)|tetrahydrofolate interconversion (GO:0035999)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|formate-tetrahydrofolate ligase activity (GO:0004329)|methenyltetrahydrofolate cyclohydrolase activity (GO:0004477)|methylenetetrahydrofolate dehydrogenase (NADP+) activity (GO:0004488)|methylenetetrahydrofolate dehydrogenase [NAD(P)+] activity (GO:0004486)			endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	30				OV - Ovarian serous cystadenocarcinoma(108;8.7e-12)|all cancers(60;3.29e-11)|BRCA - Breast invasive adenocarcinoma(234;0.0488)	Tetrahydrofolic acid(DB00116)	GGTGGTGCTTGTTGCCACTGT	0.537																																					Colon(18;220 581 13419 18191 31512)|GBM(126;343 1658 28700 44425 52519)	ENST00000555709.1																			0				endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	30						c.(2092-2094)Gtt>Ttt		methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1, methenyltetrahydrofolate cyclohydrolase, formyltetrahydrofolate synthetase	NADH(DB00157)|Tetrahydrofolic acid(DB00116)						60	62	61					14																	64909076		2203	4300	6503	SO:0001583	missense	4522				folic acid metabolic process|folic acid-containing compound biosynthetic process|histidine biosynthetic process|methionine biosynthetic process|one-carbon metabolic process|purine nucleotide biosynthetic process	cytosol|mitochondrion	ATP binding|formate-tetrahydrofolate ligase activity|methenyltetrahydrofolate cyclohydrolase activity|methylenetetrahydrofolate dehydrogenase|methylenetetrahydrofolate dehydrogenase (NADP+) activity|protein binding	g.chr14:64909076G>T	J04031	CCDS9763.1	14q24	2004-12-13			ENSG00000100714	ENSG00000100714	1.5.1.15, 3.5.4.-		7432	protein-coding gene	gene with protein product		172460		MTHFC, MTHFD		3053686, 2786332	Standard	NM_005956		Approved		uc001xhb.3	P11586	OTTHUMG00000141309	ENST00000545908.1:c.2260G>T	14.37:g.64909076G>T	ENSP00000438588:p.Val754Phe					MTHFD1_ENST00000216605.7_Missense_Mutation_p.V754F|CTD-2555O16.2_ENST00000556640.1_RNA|MTHFD1_ENST00000545908.1_Missense_Mutation_p.V754F	p.V698F	NM_005956.3	NP_005947.3	P11586	C1TC_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;8.7e-12)|all cancers(60;3.29e-11)|BRCA - Breast invasive adenocarcinoma(234;0.0488)	21	2479	+			698			Formyltetrahydrofolate synthetase.		B2R5Y2|G3V2B8|Q86VC9|Q9BVP5	Missense_Mutation	SNP	ENST00000545908.1	37	c.2092G>T		.	.	.	.	.	.	.	.	.	.	G	28.7	4.943524	0.92593	.	.	ENSG00000100714	ENST00000545908;ENST00000555709;ENST00000216605	T;T;T	0.37752	1.18;1.18;1.18	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	T	0.79522	0.4460	H	0.99535	4.615	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.998;1.0	D	0.87693	0.2555	10	0.87932	D	0	-25.0864	20.5827	0.99408	0.0:0.0:1.0:0.0	.	754;698	F5H2F4;G3V2B8	.;.	F	754;698;754	ENSP00000438588:V754F;ENSP00000450560:V698F;ENSP00000216605:V754F	ENSP00000216605:V698F	V	+	1	0	MTHFD1	63978829	1.000000	0.71417	0.985000	0.45067	0.582000	0.36321	9.869000	0.99810	2.941000	0.99782	0.655000	0.94253	GTT		0.537	MTHFD1-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000412167.1			4	89	1	0	0.00024832	1	0.000267422	4	89					T	64909076	G	T	64909076	3	4	314	1	0	0	0	0	1	0	0	0	9927	1377	48	5	2174	5	MTHFD1	14	64909076	Missense_Mutation	SNP	G	TCGA-KK-A6E3-01A-21D-A30E-08	13536848	64909076	42440464	43	16156											
CSPG4	1464	broad.mit.edu	37	chr15	75985564	75985564	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	acctccaggtggttctcaccGaagaaggaagctgtgtgaga	11	8	13	9	1	1	2	1	1	1	2	3	5	2	3	3	3	1	2	3	3	3	1			TCGA-KK-A6E3-01A-21D-A30E-08	TCGA-KK-A6E3-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1106f74-3476-405d-93ad-b718d7f393bc	ee4e1c2b-7911-4e58-a5c2-5211c8d6ef54	g.chr15:75985564G>A	ENST00000308508.5	-	2	191	c.99C>T	c.(97-99)ttC>ttT	p.F33F		NM_001897.4	NP_001888.2	Q6UVK1	CSPG4_HUMAN	chondroitin sulfate proteoglycan 4	33	Globular or compact configuration stabilized by disulfide bonds.|Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.|Neurite growth inhibition. {ECO:0000250}.				activation of MAPK activity (GO:0000187)|angiogenesis (GO:0001525)|carbohydrate metabolic process (GO:0005975)|cell proliferation (GO:0008283)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|intracellular signal transduction (GO:0035556)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|small molecule metabolic process (GO:0044281)|tissue remodeling (GO:0048771)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell projection (GO:0042995)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)	protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)			breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4)	48						GGTTCTCACCGAAGAAGGAAG	0.617																																						ENST00000308508.5																			0				breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4)	48						c.(97-99)ttC>ttT		chondroitin sulfate proteoglycan 4							33	24	27					15																	75985564		2197	4294	6491	SO:0001819	synonymous_variant	1464				angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling	apical plasma membrane|cell surface|integral to plasma membrane|intracellular|lamellipodium membrane	protein kinase binding|signal transducer activity	g.chr15:75985564G>A	X96753, AY359468	CCDS10284.1	15q24.2	2010-04-19	2007-02-16		ENSG00000173546	ENSG00000173546		"Proteoglycans / Cell surface : Other"	2466	protein-coding gene	gene with protein product	"melanoma-associated chondroitin sulfate proteoglycan"	601172	"chondroitin sulfate proteoglycan 4 (melanoma-associated)"			8790396, 16407841	Standard	NM_001897		Approved	MCSPG, MEL-CSPG, MSK16, NG2, MCSP, HMW-MAA	uc002baw.3	Q6UVK1	OTTHUMG00000142836	ENST00000308508.5:c.99C>T	15.37:g.75985564G>A							p.F33F	NM_001897.4	NP_001888.2	Q6UVK1	CSPG4_HUMAN			2	191	-			33			Globular or compact configuration stabilized by disulfide bonds.|Laminin G-like 1.|Neurite growth inhibition (By similarity).		D3DW77|Q92675	Silent	SNP	ENST00000308508.5	37	c.99C>T	CCDS10284.1																																																																																				0.617	CSPG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286472.1	NM_001897		7	24	0	0	0	1	0	7	24					A	75985564	G	A	75985564	2	1	314	1	0	0	0	0	0	0	0	1	3960	1049	37	2		2	CSPG4	15	75985564	Silent	SNP	G	TCGA-KK-A6E3-01A-21D-A30E-08		75985564	26545828	44	16157											
ABCC11	85320	broad.mit.edu	37	chr16	48218517	48218517	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acagcaggtagttattctgcGcatcagtcagcctcttaaac	11	11	8	11	1	4	0	2	0	2	0	4	0	4	0	1	1	4	4	1	1	4	4			TCGA-KK-A6E3-01A-21D-A30E-08	TCGA-KK-A6E3-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1106f74-3476-405d-93ad-b718d7f393bc	ee4e1c2b-7911-4e58-a5c2-5211c8d6ef54	g.chr16:48218517G>A	ENST00000394747.1	-	22	3441	c.3092C>T	c.(3091-3093)gCg>gTg	p.A1031V	ABCC11_ENST00000565329.1_5'UTR|ABCC11_ENST00000394748.1_Missense_Mutation_p.A1031V|ABCC11_ENST00000353782.5_Missense_Mutation_p.A1031V|ABCC11_ENST00000356608.2_Missense_Mutation_p.A1031V	NM_033151.3	NP_149163.2	Q96J66	ABCCB_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 11	1031	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.				organic anion transport (GO:0015711)|purine nucleotide transport (GO:0015865)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)|purine nucleotide transmembrane transporter activity (GO:0015216)			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2)	83		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)			Conjugated Estrogens(DB00286)|Folic Acid(DB00158)|Indomethacin(DB00328)|Methotrexate(DB00563)|Probenecid(DB01032)	GTTATTCTGCGCATCAGTCAG	0.507																																						ENST00000394747.1																			0				breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2)	83						c.(3091-3093)gCg>gTg		ATP-binding cassette, sub-family C (CFTR/MRP), member 11							166	140	149					16																	48218517		2201	4300	6501	SO:0001583	missense	85320					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr16:48218517G>A	AF367202	CCDS10732.1, CCDS10733.1	16q12	2012-03-14			ENSG00000121270	ENSG00000121270		"ATP binding cassette transporters / subfamily C"	14639	protein-coding gene	gene with protein product		607040				11483364, 11435397	Standard	NM_033151		Approved	MRP8	uc002efg.1	Q96J66	OTTHUMG00000133146	ENST00000394747.1:c.3092C>T	16.37:g.48218517G>A	ENSP00000378230:p.Ala1031Val					ABCC11_ENST00000565329.1_5'UTR|ABCC11_ENST00000356608.2_Missense_Mutation_p.A1031V|ABCC11_ENST00000394748.1_Missense_Mutation_p.A1031V|ABCC11_ENST00000353782.5_Missense_Mutation_p.A1031V	p.A1031V	NM_033151.3	NP_149163.2	Q96J66	ABCCB_HUMAN			22	3441	-		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)	1031			ABC transmembrane type-1 2.		Q8TDJ0|Q96JA6|Q9BX80	Missense_Mutation	SNP	ENST00000394747.1	37	c.3092C>T	CCDS10732.1	.	.	.	.	.	.	.	.	.	.	G	13.29	2.194100	0.38707	.	.	ENSG00000121270	ENST00000353782;ENST00000356608;ENST00000394748;ENST00000394747	D;D;D;D	0.89485	-2.52;-2.52;-2.52;-2.52	5.48	-10.6	0.00265	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	2.083830	0.02344	N	0.075165	T	0.77018	0.4069	L	0.27053	0.805	0.09310	N	1	B;B	0.13594	0.008;0.004	B;B	0.17098	0.003;0.017	T	0.61023	-0.7146	10	0.27785	T	0.31	10.331	5.4931	0.16787	0.4076:0.0:0.1518:0.4405	.	1031;1031	Q96J66-2;Q96J66	.;ABCCB_HUMAN	V	1031	ENSP00000311326:A1031V;ENSP00000349017:A1031V;ENSP00000378231:A1031V;ENSP00000378230:A1031V	ENSP00000311326:A1031V	A	-	2	0	ABCC11	46776018	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.571000	0.02138	-1.447000	0.01943	-0.253000	0.11424	GCG		0.507	ABCC11-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000429984.1	NM_032583		6	106	0	0	0	1	0	6	106					A	48218517	G	A	48218517	3	1	314	1	0	0	0	0	1	0	0	0	51	1087	38	1	1088	1	ABCC11	16	48218517	Missense_Mutation	SNP	G	TCGA-KK-A6E3-01A-21D-A30E-08		48218517	42136236	45	16158											
GLG1	2734	broad.mit.edu	37	chr16	74490581	74490581	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tccacatctcaatccggtcaTtgaggcgctttttgcactcg	7	13	8	13	3	2	1	2	1	1	0	6	1	4	1	2	2	1	2	2	2	1	3	rs144493700	byFrequency	TCGA-KK-A6E3-01A-21D-A30E-08	TCGA-KK-A6E3-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1106f74-3476-405d-93ad-b718d7f393bc	ee4e1c2b-7911-4e58-a5c2-5211c8d6ef54	g.chr16:74490581T>C	ENST00000422840.2	-	25	3337	c.3338A>G	c.(3337-3339)aAt>aGt	p.N1113S	GLG1_ENST00000447066.2_Missense_Mutation_p.N1102S|RNU6-237P_ENST00000515985.1_RNA|GLG1_ENST00000205061.5_Missense_Mutation_p.N1113S	NM_001145667.1	NP_001139139.1	Q92896	GSLG1_HUMAN	golgi glycoprotein 1	1113					blood coagulation (GO:0007596)|bone morphogenesis (GO:0060349)|leukocyte migration (GO:0050900)|negative regulation of protein processing (GO:0010955)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|regulation of chondrocyte differentiation (GO:0032330)	extracellular matrix (GO:0031012)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)			breast(2)|cervix(2)|endometrium(6)|kidney(8)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(1)	57						AATCCGGTCATTGAGGCGCTT	0.418																																						ENST00000422840.2																			0				breast(2)|cervix(2)|endometrium(6)|kidney(8)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(1)	57						c.(3337-3339)aAt>aGt		golgi glycoprotein 1							146	141	143					16																	74490581		2198	4300	6498	SO:0001583	missense	2734					Golgi membrane|integral to membrane	receptor binding	g.chr16:74490581T>C		CCDS32485.1, CCDS45526.1, CCDS45527.1	16q22-q23	2010-02-12	2010-02-12			ENSG00000090863			4316	protein-coding gene	gene with protein product		600753	"golgi apparatus protein 1"			8530051, 7531823	Standard	NM_012201		Approved	MG-160, ESL-1, CFR-1	uc002fcx.3	Q92896		ENST00000422840.2:c.3338A>G	16.37:g.74490581T>C	ENSP00000405984:p.Asn1113Ser					GLG1_ENST00000447066.2_Missense_Mutation_p.N1102S|GLG1_ENST00000205061.5_Missense_Mutation_p.N1113S	p.N1113S	NM_001145667.1	NP_001139139.1	Q92896	GSLG1_HUMAN			25	3337	-			1113					B7Z8Y4|D3DUJ7|Q13221|Q6P9D1	Missense_Mutation	SNP	ENST00000422840.2	37	c.3338A>G	CCDS45527.1	.	.	.	.	.	.	.	.	.	.	T	11.26	1.584942	0.28268	.	.	ENSG00000090863	ENST00000205061;ENST00000447066;ENST00000422840	.	.	.	5.75	5.75	0.90469	.	0.110120	0.64402	D	0.000003	T	0.35941	0.0949	N	0.08118	0	0.40384	D	0.979479	B;B;B;B	0.12630	0.0;0.004;0.006;0.003	B;B;B;B	0.13407	0.0;0.006;0.009;0.004	T	0.31613	-0.9937	9	0.07325	T	0.83	-14.6311	16.0681	0.80903	0.0:0.0:0.0:1.0	.	243;1113;1113;1102	Q6ZMF1;Q92896;Q92896-2;B7Z8Y4	.;GSLG1_HUMAN;.;.	S	1113;1102;1113	.	ENSP00000205061:N1113S	N	-	2	0	GLG1	73048082	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.698000	0.84413	2.188000	0.69820	0.528000	0.53228	AAT		0.418	GLG1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000435750.1	NM_012201		23	112	0	0	0	1	0	23	112					C	74490581	T	C	74490581	3	2	314	1	0	0	0	0	1	0	0	0	6436	1493	52	4	289	4	GLG1	16	74490581	Missense_Mutation	SNP	T	TCGA-KK-A6E3-01A-21D-A30E-08	26272064	74490581	15864172	46	16159											
CCDC144NL	339184	broad.mit.edu	37	chr17	20799125	20799125	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggacatcgtgctggagctggTctaaggcgccctcaccgtgc	6	8	14	13	3	2	0	1	0	1	0	3	2	2	2	2	4	3	2	2	4	1	1			TCGA-KK-A6E3-01A-21D-A30E-08	TCGA-KK-A6E3-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1106f74-3476-405d-93ad-b718d7f393bc	ee4e1c2b-7911-4e58-a5c2-5211c8d6ef54	g.chr17:20799125T>C	ENST00000327925.5	-	1	328	c.209A>G	c.(208-210)gAc>gGc	p.D70G	RP11-344E13.3_ENST00000577537.1_RNA|RNU6-1178P_ENST00000516674.1_RNA|RP11-344E13.3_ENST00000439794.2_RNA|RP11-344E13.3_ENST00000577860.1_RNA|RP11-344E13.3_ENST00000582324.1_RNA|RP11-344E13.3_ENST00000417232.2_RNA|RP11-344E13.3_ENST00000583962.1_RNA	NM_001004306.1	NP_001004306.1	Q6NUI1	C144L_HUMAN	coiled-coil domain containing 144 family, N-terminal like	70										large_intestine(3)|lung(3)|skin(1)	7						CTGGAGCTGGTCTAAGGCGCC	0.642																																						ENST00000327925.5																			0				large_intestine(3)|lung(3)|skin(1)	7						c.(208-210)gAc>gGc		coiled-coil domain containing 144 family, N-terminal like							72	85	81					17																	20799125		2203	4298	6501	SO:0001583	missense	339184							g.chr17:20799125T>C		CCDS32591.1	17p11.2	2009-01-15			ENSG00000205212	ENSG00000205212			33735	protein-coding gene	gene with protein product							Standard	NM_001004306		Approved	MGC87631	uc002gyf.3	Q6NUI1	OTTHUMG00000132271	ENST00000327925.5:c.209A>G	17.37:g.20799125T>C	ENSP00000328054:p.Asp70Gly					RP11-344E13.3_ENST00000417232.2_RNA|RP11-344E13.3_ENST00000577537.1_RNA|RP11-344E13.3_ENST00000582324.1_RNA|RP11-344E13.3_ENST00000577860.1_RNA|RP11-344E13.3_ENST00000583962.1_RNA|RP11-344E13.3_ENST00000439794.2_RNA	p.D70G	NM_001004306.1	NP_001004306.1	Q6NUI1	C144L_HUMAN			1	328	-			70						Missense_Mutation	SNP	ENST00000327925.5	37	c.209A>G	CCDS32591.1	.	.	.	.	.	.	.	.	.	.	t	8.737	0.917938	0.17982	.	.	ENSG00000205212	ENST00000327925	T	0.26373	1.74	.	.	.	.	.	.	.	.	T	0.22551	0.0544	N	0.14661	0.345	0.09310	N	1	D	0.60575	0.988	P	0.62885	0.908	T	0.14868	-1.0457	7	0.30078	T	0.28	.	.	.	.	.	70	Q6NUI1	C144L_HUMAN	G	70	ENSP00000328054:D70G	ENSP00000328054:D70G	D	-	2	0	CCDC144NL	20739717	0.102000	0.21896	0.000000	0.03702	0.071000	0.16799	0.163000	0.16520	-0.762000	0.04664	0.130000	0.15844	GAC		0.642	CCDC144NL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255361.2	NM_001004306		7	191	0	0	0	1	0	7	191					C	20799125	T	C	20799125	3	2	314	1	0	0	0	0	1	0	0	0	2779	1667	58	4	472	4	CCDC144NL	17	20799125	Missense_Mutation	SNP	T	TCGA-KK-A6E3-01A-21D-A30E-08		20799125	60396085	47	16160											
ZNF519	162655	broad.mit.edu	37	chr18	14105529	14105529	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagtatggattctctgatgtTgagtaaggtatgagcctctg	9	14	12	6	0	2	3	0	3	2	0	3	4	2	4	1	2	1	4	1	2	3	5			TCGA-KK-A6E3-01A-21D-A30E-08	TCGA-KK-A6E3-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1106f74-3476-405d-93ad-b718d7f393bc	ee4e1c2b-7911-4e58-a5c2-5211c8d6ef54	g.chr18:14105529T>C	ENST00000590202.1	-	3	1162	c.1010A>G	c.(1009-1011)cAa>cGa	p.Q337R	ZNF519_ENST00000589203.1_Intron|ZNF519_ENST00000589498.1_Intron|RP11-411B10.3_ENST00000592926.1_RNA	NM_145287.3	NP_660330.2	Q8TB69	ZN519_HUMAN	zinc finger protein 519	337					negative regulation of transcription during meiosis (GO:0051038)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|urinary_tract(1)	18						TCTCTGATGTTGAGTAAGGTA	0.428																																						ENST00000590202.1																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|urinary_tract(1)	18						c.(1009-1011)cAa>cGa		zinc finger protein 519							98	101	100					18																	14105529		2203	4300	6503	SO:0001583	missense	162655				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr18:14105529T>C	BC024227	CCDS32797.1	18p11.21	2014-06-18			ENSG00000175322	ENSG00000175322		"Zinc fingers, C2H2-type", "-"	30574	protein-coding gene	gene with protein product	"similar to Zinc finger protein 85 (Zinc finger protein HPF4) (HTF1)"					12477932	Standard	NM_145287		Approved	HsT2362, FLJ36809	uc002kst.2	Q8TB69	OTTHUMG00000182055	ENST00000590202.1:c.1010A>G	18.37:g.14105529T>C	ENSP00000464872:p.Gln337Arg					ZNF519_ENST00000589203.1_Intron|ZNF519_ENST00000589498.1_Intron	p.Q337R	NM_145287.3	NP_660330.2	Q8TB69	ZN519_HUMAN			3	1162	-			337						Missense_Mutation	SNP	ENST00000590202.1	37	c.1010A>G	CCDS32797.1	.	.	.	.	.	.	.	.	.	.	T	0.080	-1.186245	0.01620	.	.	ENSG00000175322	ENST00000309305	.	.	.	0.646	-1.29	0.09288	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.07638	0.0192	N	0.01015	-1.05	0.09310	N	1	B	0.17465	0.022	B	0.20184	0.028	T	0.27872	-1.0061	8	0.11485	T	0.65	.	2.6603	0.05025	0.0:0.2442:0.2694:0.4864	.	337	Q8TB69	ZN519_HUMAN	R	337	.	ENSP00000307908:Q337R	Q	-	2	0	ZNF519	14095529	0.000000	0.05858	0.015000	0.15790	0.524000	0.34500	-11.465000	0.00003	-1.219000	0.02597	0.076000	0.15429	CAA		0.428	ZNF519-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459037.1	NM_145287		10	132	0	0	0	1	0	10	132					C	14105529	T	C	14105529	3	2	314	1	0	0	0	0	1	0	0	0	17961	1812	63	4	616	4	ZNF519	18	14105529	Missense_Mutation	SNP	T	TCGA-KK-A6E3-01A-21D-A30E-08		14105529	63971719	48	16161											
DMPK	1760	broad.mit.edu	37	chr19	46281067	46281067	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tgcctgtcccaggcccaccgCccacagcctgcaggatctcg	6	6	10	19	2	1	0	0	0	1	0	3	1	2	1	6	2	3	1	6	2	0	0			TCGA-KK-A6E3-01A-21D-A30E-08	TCGA-KK-A6E3-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1106f74-3476-405d-93ad-b718d7f393bc	ee4e1c2b-7911-4e58-a5c2-5211c8d6ef54	g.chr19:46281067C>T	ENST00000291270.4	-	7	865	c.740G>A	c.(739-741)gGc>gAc	p.G247D	DMPK_ENST00000600757.1_Missense_Mutation_p.G257D|DMPK_ENST00000595361.1_5'Flank|DMPK_ENST00000458663.2_Missense_Mutation_p.G247D|DMPK_ENST00000354227.5_Missense_Mutation_p.G247D|DMPK_ENST00000343373.4_Missense_Mutation_p.G257D|DMPK_ENST00000447742.2_Missense_Mutation_p.G247D	NM_004409.3	NP_004400.4	Q09013	DMPK_HUMAN	dystrophia myotonica-protein kinase	247	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular calcium ion homeostasis (GO:0006874)|muscle cell apoptotic process (GO:0010657)|nuclear envelope organization (GO:0006998)|protein phosphorylation (GO:0006468)|regulation of catalytic activity (GO:0050790)|regulation of excitatory postsynaptic membrane potential involved in skeletal muscle contraction (GO:0014853)|regulation of heart contraction (GO:0008016)|regulation of myotube differentiation (GO:0010830)|regulation of skeletal muscle contraction by calcium ion signaling (GO:0014722)|regulation of sodium ion transport (GO:0002028)|regulation of synapse structural plasticity (GO:0051823)	cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|integral component of mitochondrial outer membrane (GO:0031307)|nuclear membrane (GO:0031965)|plasma membrane (GO:0005886)|sarcoplasmic reticulum membrane (GO:0033017)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|myosin phosphatase regulator activity (GO:0017020)|protein serine/threonine kinase activity (GO:0004674)			endometrium(5)|kidney(1)|large_intestine(1)|lung(6)|stomach(1)|urinary_tract(2)	16		Ovarian(192;0.0308)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00616)|GBM - Glioblastoma multiforme(486;0.0825)|Epithelial(262;0.24)		AGGCCCACCGCCCACAGCCTG	0.652																																					Esophageal Squamous(35;307 869 9153 24033 28903)	ENST00000600757.1																			0				endometrium(5)|kidney(1)|large_intestine(1)|lung(6)|stomach(1)|urinary_tract(2)	16						c.(769-771)gGc>gAc		dystrophia myotonica-protein kinase							51	58	56					19																	46281067		2202	4296	6498	SO:0001583	missense	1760				regulation of heart contraction		ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr19:46281067C>T	L19268	CCDS12674.1, CCDS46117.1, CCDS46118.1, CCDS46119.1, CCDS74400.1	19q13.3	2014-02-05					2.7.11.1		2933	protein-coding gene	gene with protein product	"dystrophia myotonica 1", "DM protein kinase", "myotonin protein kinase A", "myotonic dystrophy associated protein kinase", "thymopoietin homolog"	605377	"dystrophia myotonica 1 (includes dystrophia myotonia protein kinase)"	DM1, DM		1546325, 1546326	Standard	NM_001288765		Approved	DMK, DM1PK, MDPK, MT-PK	uc002pdf.1	Q09013		ENST00000291270.4:c.740G>A	19.37:g.46281067C>T	ENSP00000291270:p.Gly247Asp					DMPK_ENST00000354227.5_Missense_Mutation_p.G247D|DMPK_ENST00000343373.4_Missense_Mutation_p.G257D|DMPK_ENST00000447742.2_Missense_Mutation_p.G247D|DMPK_ENST00000458663.2_Missense_Mutation_p.G247D|DMPK_ENST00000291270.4_Missense_Mutation_p.G247D	p.G257D			Q09013	DMPK_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00616)|GBM - Glioblastoma multiforme(486;0.0825)|Epithelial(262;0.24)	6	1457	-		Ovarian(192;0.0308)|all_neural(266;0.112)	257			Protein kinase.		E5KR08|Q16205|Q6P5Z6	Missense_Mutation	SNP	ENST00000291270.4	37	c.770G>A	CCDS12674.1	.	.	.	.	.	.	.	.	.	.	c	20.6	4.012150	0.75046	.	.	ENSG00000104936	ENST00000458663;ENST00000342805;ENST00000291270;ENST00000447742;ENST00000377750;ENST00000343373;ENST00000348168;ENST00000354227	T;T;T;T;T	0.72167	-0.63;-0.58;-0.61;-0.6;-0.57	4.77	4.77	0.60923	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.45126	D	0.000391	T	0.70527	0.3234	L	0.42686	1.345	0.80722	D	1	B;D;D;P;P;P;D;D	0.62365	0.026;0.96;0.977;0.855;0.916;0.941;0.969;0.991	B;B;P;P;B;P;P;P	0.55303	0.041;0.397;0.653;0.574;0.41;0.688;0.52;0.773	T	0.70011	-0.4989	10	0.44086	T	0.13	.	8.837	0.35117	0.0:0.8998:0.0:0.1002	.	247;247;273;247;247;247;294;257	Q09013-12;Q09013-16;G5E982;E5KR07;E5KR05;Q09013;Q59FU6;E5KR08	.;.;.;.;.;DMPK_HUMAN;.;.	D	247;273;247;247;247;257;257;247	ENSP00000401753:G247D;ENSP00000291270:G247D;ENSP00000413417:G247D;ENSP00000345997:G257D;ENSP00000346168:G247D	ENSP00000291270:G247D	G	-	2	0	DMPK	50972907	0.997000	0.39634	0.998000	0.56505	0.955000	0.61496	3.246000	0.51414	2.455000	0.83008	0.655000	0.94253	GGC		0.652	DMPK-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460572.1	NM_004409		8	161	0	0	0	1	0	8	161					T	46281067	C	T	46281067	3	4	314	1	0	0	0	0	1	0	0	0	4584	739	26	3	1192	3	DMPK	19	46281067	Missense_Mutation	SNP	C	TCGA-KK-A6E3-01A-21D-A30E-08		46281067	12847916	49	16162											
VN1R2	317701	broad.mit.edu	37	chr19	53762385	53762385	+	Frame_Shift_Del	DEL	C	C	-																															tgggatattgttctgccccaCttagtgatgaagtcacaaag																										TCGA-KK-A6E3-01A-21D-A30E-08	TCGA-KK-A6E3-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1106f74-3476-405d-93ad-b718d7f393bc	ee4e1c2b-7911-4e58-a5c2-5211c8d6ef54	g.chr19:53762385delC	ENST00000341702.3	+	1	841	c.757delC	c.(757-759)cttfs	p.L253fs		NM_173856.2	NP_776255.2	Q8NFZ6	VN1R2_HUMAN	vomeronasal 1 receptor 2	253					response to pheromone (GO:0019236)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	pheromone receptor activity (GO:0016503)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(134;0.00301)		TTCTGCCCCACTTAGTGATGA	0.433																																						ENST00000341702.3																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	31						c.(757-759)ttfs		vomeronasal 1 receptor 2							127	118	121					19																	53762385		2203	4300	6503	SO:0001589	frameshift_variant	317701				response to pheromone	integral to membrane|plasma membrane	pheromone receptor activity	g.chr19:53762385delC	AF370359	CCDS12862.1	19q13.42	2012-08-22			ENSG00000196131	ENSG00000196131		"Vomeronasal receptors / Type 1", "GPCR / Unclassified : Vomeronasal receptors, type 1"	19872	protein-coding gene	gene with protein product						12123587	Standard	NM_173856		Approved	V1RL2	uc002qbi.2	Q8NFZ6		ENST00000341702.3:c.757delC	19.37:g.53762385delC	ENSP00000351244:p.Leu253fs						p.L253fs	NM_173856.2	NP_776255.2	Q8NFZ6	VN1R2_HUMAN		GBM - Glioblastoma multiforme(134;0.00301)	1	841	+			253					A1L411|Q8TDU4	Frame_Shift_Del	DEL	ENST00000341702.3	37	c.757delC	CCDS12862.1																																																																																				0.433	VN1R2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464285.1	NM_173856		10	159						10	159	---	---	---	---	-	53762385	C	-	53762385	7	5	314	1	0	1	0	1	0	0	0	0	17176	565	20	0	759	0	VN1R2	19	53762385	Frame_Shift_Del	DEL	C	TCGA-KK-A6E3-01A-21D-A30E-08	7481318	53762385	5366598	50	16163											
LILRB1	10859	broad.mit.edu	37	chr19	55143586	55143586	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatcttctccgtgggccccGtgagcccgagtcgcaggtgg	4	8	14	15	4	2	1	0	1	2	0	4	2	2	1	5	3	1	1	5	3	0	1	rs529461921		TCGA-KK-A6E3-01A-21D-A30E-08	TCGA-KK-A6E3-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1106f74-3476-405d-93ad-b718d7f393bc	ee4e1c2b-7911-4e58-a5c2-5211c8d6ef54	g.chr19:55143586G>A	ENST00000396331.1	+	6	916	c.559G>A	c.(559-561)Gtg>Atg	p.V187M	LILRB1_ENST00000396317.1_Missense_Mutation_p.V187M|LILRB1_ENST00000418536.2_Missense_Mutation_p.V187M|LILRB1_ENST00000396327.3_Missense_Mutation_p.V187M|LILRB1_ENST00000396332.4_Missense_Mutation_p.V187M|LILRB1_ENST00000434867.2_Missense_Mutation_p.V187M|AC009892.1_ENST00000578908.1_RNA|LILRB1_ENST00000324602.7_Missense_Mutation_p.V187M|LILRB1_ENST00000448689.1_Missense_Mutation_p.V187M|LILRB1_ENST00000396315.1_Missense_Mutation_p.V187M|LILRB1_ENST00000396321.2_Missense_Mutation_p.V187M|LILRB1_ENST00000427581.2_Missense_Mutation_p.V223M	NM_006669.3	NP_006660.3	Q8NHL6	LIRB1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1	187	Ig-like C2-type 2.				cellular response to lipopolysaccharide (GO:0071222)|defense response to virus (GO:0051607)|dendritic cell differentiation (GO:0097028)|Fc receptor mediated inhibitory signaling pathway (GO:0002774)|immune response-inhibiting cell surface receptor signaling pathway (GO:0002767)|interferon-gamma production (GO:0032609)|interferon-gamma secretion (GO:0072643)|negative regulation of alpha-beta T cell activation (GO:0046636)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of CD8-positive, alpha-beta T cell activation (GO:2001186)|negative regulation of cell cycle (GO:0045786)|negative regulation of cytokine secretion involved in immune response (GO:0002740)|negative regulation of dendritic cell apoptotic process (GO:2000669)|negative regulation of dendritic cell differentiation (GO:2001199)|negative regulation of endocytosis (GO:0045806)|negative regulation of interferon-beta secretion (GO:0035548)|negative regulation of interferon-gamma biosynthetic process (GO:0045077)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-10 secretion (GO:2001180)|negative regulation of interleukin-12 secretion (GO:2001183)|negative regulation of mononuclear cell proliferation (GO:0032945)|negative regulation of natural killer cell mediated cytotoxicity (GO:0045953)|negative regulation of osteoclast development (GO:2001205)|negative regulation of serotonin secretion (GO:0014063)|negative regulation of T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell (GO:2001189)|negative regulation of T cell mediated cytotoxicity (GO:0001915)|negative regulation of T cell proliferation (GO:0042130)|negative regulation of transforming growth factor-beta secretion (GO:2001202)|negative regulation of tumor necrosis factor biosynthetic process (GO:0042536)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cytolysis (GO:0045919)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of gamma-delta T cell activation involved in immune response (GO:2001193)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|receptor internalization (GO:0031623)|regulation of immune response (GO:0050776)|response to virus (GO:0009615)|signal transduction (GO:0007165)|T cell proliferation involved in immune response (GO:0002309)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	HLA-A specific inhibitory MHC class I receptor activity (GO:0030107)|HLA-B specific inhibitory MHC class I receptor activity (GO:0030109)|MHC class I protein binding (GO:0042288)|MHC class I receptor activity (GO:0032393)|protein homodimerization activity (GO:0042803)|protein phosphatase 1 binding (GO:0008157)|SH2 domain binding (GO:0042169)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	74				GBM - Glioblastoma multiforme(193;0.0188)		CGTGGGCCCCGTGAGCCCGAG	0.587										HNSCC(37;0.09)			g|||	1	0.000199681	8e-04	0	5008	,	,		18727	0		0	False		,,,				2504	0					ENST00000396331.1																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	74						c.(559-561)Gtg>Atg		leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1							134	132	133					19																	55143586		2203	4300	6503	SO:0001583	missense	0				regulation of immune response|response to virus	integral to membrane|plasma membrane	protein phosphatase 1 binding|receptor activity	g.chr19:55143586G>A	AF009220	CCDS42614.1, CCDS42615.1, CCDS42616.1, CCDS42617.1, CCDS62803.1	19q13.4	2013-01-11						"Leukocyte immunoglobulin-like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6605	protein-coding gene	gene with protein product		604811				9285411, 9382880	Standard	XM_006726246		Approved	LIR-1, ILT2, MIR-7, CD85, LIR1, CD85j	uc002qgm.3	Q8NHL6		ENST00000396331.1:c.559G>A	19.37:g.55143586G>A	ENSP00000379622:p.Val187Met	HNSCC(37;0.09)				LILRB1_ENST00000396332.4_Missense_Mutation_p.V187M|LILRB1_ENST00000448689.1_Missense_Mutation_p.V187M|LILRB1_ENST00000434867.2_Missense_Mutation_p.V187M|LILRB1_ENST00000324602.7_Missense_Mutation_p.V187M|LILRB1_ENST00000396317.1_Missense_Mutation_p.V187M|LILRB1_ENST00000396327.3_Missense_Mutation_p.V187M|LILRB1_ENST00000427581.2_Missense_Mutation_p.V223M|LILRB1_ENST00000396315.1_Missense_Mutation_p.V187M|LILRB1_ENST00000418536.2_Missense_Mutation_p.V187M|LILRB1_ENST00000396321.2_Missense_Mutation_p.V187M	p.V187M	NM_006669.3	NP_006660.3	Q8NHL6	LIRB1_HUMAN		GBM - Glioblastoma multiforme(193;0.0188)	6	916	+			187			Ig-like C2-type 2.		A2IXV4|A8MXT0|O75024|O75025|Q8NHJ9|Q8NHK0	Missense_Mutation	SNP	ENST00000396331.1	37	c.559G>A	CCDS42617.1	.	.	.	.	.	.	.	.	.	.	G	11.11	1.541058	0.27563	.	.	ENSG00000104972	ENST00000396321;ENST00000418536;ENST00000448689;ENST00000396331;ENST00000396327;ENST00000324602;ENST00000434867;ENST00000396332;ENST00000427581;ENST00000396317;ENST00000396315	T;T;T;T;T;T;T;T;T;T;T	0.05786	3.39;3.39;3.39;3.39;3.39;3.39;3.39;3.39;3.39;3.39;3.39	1.57	-1.03	0.10102	Immunoglobulin-like fold (1);	0.759821	0.11578	N	0.550089	T	0.16727	0.0402	M	0.75447	2.3	0.09310	N	1	D;D;D;D;D	0.89917	1.0;0.998;0.999;0.989;0.998	D;P;P;P;P	0.75484	0.986;0.896;0.825;0.686;0.902	T	0.13202	-1.0518	10	0.48119	T	0.1	.	2.251	0.04043	0.2014:0.0:0.5031:0.2956	.	187;187;187;187;187	A8MVE2;Q8NHL6-3;A2IXV4;Q8NHL6-2;Q8NHL6	.;.;.;.;LIRB1_HUMAN	M	187;187;187;187;187;187;187;187;223;187;187	ENSP00000379614:V187M;ENSP00000391514:V187M;ENSP00000409968:V187M;ENSP00000379622:V187M;ENSP00000379618:V187M;ENSP00000315997:V187M;ENSP00000405243:V187M;ENSP00000379623:V187M;ENSP00000395004:V223M;ENSP00000379610:V187M;ENSP00000379608:V187M	ENSP00000315997:V187M	V	+	1	0	LILRB1	59835398	0.003000	0.15002	0.001000	0.08648	0.040000	0.13550	-0.395000	0.07287	-0.167000	0.10871	0.184000	0.17185	GTG		0.587	LILRB1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000140796.4			4	201	0	0	0	1	0	4	201					A	55143586	G	A	55143586	3	1	314	1	0	0	0	0	1	0	0	0	8790	1145	40	1	573	1	LILRB1	19	55143586	Missense_Mutation	SNP	G	TCGA-KK-A6E3-01A-21D-A30E-08	1381201	55143586	3985397	51	16164											
SPATA2	9825	broad.mit.edu	37	chr20	48525010	48525010	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccttgaatttagtatccatTgaactgggcttccccatccg	8	14	7	12	1	0	2	0	2	0	0	4	2	4	2	5	1	1	2	5	1	4	6			TCGA-KK-A6E3-01A-21D-A30E-08	TCGA-KK-A6E3-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1106f74-3476-405d-93ad-b718d7f393bc	ee4e1c2b-7911-4e58-a5c2-5211c8d6ef54	g.chr20:48525010T>G	ENST00000422556.1	-	2	367	c.18A>C	c.(16-18)tcA>tcC	p.S6S	SPATA2_ENST00000543716.1_Intron|SPATA2_ENST00000289431.5_Silent_p.S6S	NM_001135773.1	NP_001129245.1	Q9UM82	SPAT2_HUMAN	spermatogenesis associated 2	6					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)	20	Hepatocellular(150;0.133)		BRCA - Breast invasive adenocarcinoma(9;4.03e-06)			TAGTATCCATTGAACTGGGCT	0.522																																						ENST00000422556.1																			0				central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)	20						c.(16-18)tcA>tcC		spermatogenesis associated 2							69	67	67					20																	48525010		2203	4300	6503	SO:0001819	synonymous_variant	9825				cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm|nucleus		g.chr20:48525010T>G	AB018300	CCDS13422.1	20q13.13	2014-06-13			ENSG00000158480	ENSG00000158480			14681	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 145"	607662					Standard	NM_001135773		Approved	KIAA0757, PD1, tamo, PPP1R145	uc002xuw.3	Q9UM82	OTTHUMG00000032704	ENST00000422556.1:c.18A>C	20.37:g.48525010T>G						SPATA2_ENST00000543716.1_Intron|SPATA2_ENST00000289431.5_Silent_p.S6S	p.S6S	NM_001135773.1	NP_001129245.1	Q9UM82	SPAT2_HUMAN	BRCA - Breast invasive adenocarcinoma(9;4.03e-06)		2	367	-	Hepatocellular(150;0.133)		6					E1P626|O94857	Silent	SNP	ENST00000422556.1	37	c.18A>C	CCDS13422.1																																																																																				0.522	SPATA2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079658.1	NM_006038		5	51	0	0	0	1	0	5	51					G	48525010	T	G	48525010	2	3	314	1	0	0	0	0	0	0	0	1	15004	1799	63	5		5	SPATA2	20	48525010	Silent	SNP	T	TCGA-KK-A6E3-01A-21D-A30E-08		48525010	14500510	52	16165											
TTC3	7267	broad.mit.edu	37	chr21	38511002	38511002	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gccatttctctccttggaatAggacagcctgaggtaagatt	10	12	10	9	0	1	2	0	1	1	1	3	4	2	4	3	3	1	1	3	3	3	5			TCGA-KK-A6E3-01A-21D-A30E-08	TCGA-KK-A6E3-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1106f74-3476-405d-93ad-b718d7f393bc	ee4e1c2b-7911-4e58-a5c2-5211c8d6ef54	g.chr21:38511002A>C	ENST00000399017.2	+	19	4394	c.1647A>C	c.(1645-1647)atA>atC	p.I549I	TTC3_ENST00000354749.2_Silent_p.I549I|TTC3_ENST00000540756.1_Silent_p.I239I|TTC3_ENST00000479930.1_3'UTR|TTC3_ENST00000355666.1_Silent_p.I549I	NM_003316.3	NP_003307.3	P53804	TTC3_HUMAN	tetratricopeptide repeat domain 3	549					negative regulation of cell morphogenesis involved in differentiation (GO:0010771)|negative regulation of neuron differentiation (GO:0045665)|protein K48-linked ubiquitination (GO:0070936)|ubiquitin-dependent protein catabolic process (GO:0006511)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|vacuole (GO:0005773)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(5)|endometrium(7)|kidney(5)|large_intestine(17)|liver(1)|lung(18)|ovary(4)|prostate(2)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(5)	75		Myeloproliferative disorder(46;0.0412)				TCCTTGGAATAGGACAGCCTG	0.323																																					Ovarian(38;194 1649 35661)	ENST00000399017.2																			0				breast(5)|endometrium(7)|kidney(5)|large_intestine(17)|liver(1)|lung(18)|ovary(4)|prostate(2)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(5)	75						c.(1645-1647)atA>atC		tetratricopeptide repeat domain 3							168	156	160					21																	38511002		2203	4300	6503	SO:0001819	synonymous_variant	7267				protein K48-linked ubiquitination|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr21:38511002A>C	D84296	CCDS13651.1	21q22.2	2013-01-11			ENSG00000182670	ENSG00000182670		"RING-type (C3HC4) zinc fingers", "Tetratricopeptide (TTC) repeat domain containing"	12393	protein-coding gene	gene with protein product		602259				8947847	Standard	NM_003316		Approved	TPRD, TPRDI, DCRR1, TPRDII, TPRDIII, RNF105	uc002yvz.3	P53804	OTTHUMG00000086654	ENST00000399017.2:c.1647A>C	21.37:g.38511002A>C						TTC3_ENST00000355666.1_Silent_p.I549I|TTC3_ENST00000354749.2_Silent_p.I549I|TTC3_ENST00000540756.1_Silent_p.I239I|TTC3_ENST00000479930.1_3'UTR	p.I549I	NM_003316.3	NP_003307.3	P53804	TTC3_HUMAN			19	4394	+		Myeloproliferative disorder(46;0.0412)	549					A8K7H7|B2RPA7|D3DSG9|D3DSH2|D3DSH3|O60767|P78476|P78477|Q569I2|Q6P578|Q9UEK4	Silent	SNP	ENST00000399017.2	37	c.1647A>C	CCDS13651.1																																																																																				0.323	TTC3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194776.1			5	120	0	0	0	1	0	5	120					C	38511002	A	C	38511002	2	2	314	1	0	0	0	0	0	0	0	1	16694	410	15	5		5	TTC3	21	38511002	Silent	SNP	A	TCGA-KK-A6E3-01A-21D-A30E-08		38511002	9618893	53	16166											
TMPRSS2	7113	broad.mit.edu	37	chr21	42843790	42843791	+	Frame_Shift_Ins	INS	-	-	G																															atgtcattgttcttggtcttINSggagtcataatttggatgag																										TCGA-KK-A6E3-01A-21D-A30E-08	TCGA-KK-A6E3-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1106f74-3476-405d-93ad-b718d7f393bc	ee4e1c2b-7911-4e58-a5c2-5211c8d6ef54	g.chr21:42843790_42843791insG	ENST00000332149.5	-	10	1151_1152	c.1017_1018insC	c.(1015-1020)tccaagfs	p.K340fs	TMPRSS2_ENST00000398585.3_Frame_Shift_Ins_p.K377fs|TMPRSS2_ENST00000458356.1_Frame_Shift_Ins_p.K340fs	NM_005656.3	NP_005647.3	O15393	TMPS2_HUMAN	transmembrane protease, serine 2	340	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				positive regulation of viral entry into host cell (GO:0046598)|protein autoprocessing (GO:0016540)|proteolysis (GO:0006508)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)		TMPRSS2/ETV1(34)|TMPRSS2/ETV5_ENST00000306376(5)|TMPRSS2/ERG(3582)|TMPRSS2/ETV4(13)	central_nervous_system(1)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	4		Prostate(19;4.48e-07)|all_epithelial(19;0.031)				TTCTTGGTCTTGGAGTCATAAT	0.46			T	"ERG, ETV1, ETV4, ETV5"	prostate																																	ENST00000398585.3				Dom	yes		21	21q22.3	7113	T	"transmembrane protease, serine 2"			E	"ERG, ETV1, ETV4, ETV5"		prostate	TMPRSS2/ETV1(34)|TMPRSS2/ETV5_ENST00000306376(5)|TMPRSS2/ERG(3582)|TMPRSS2/ETV4(13)	0				central_nervous_system(1)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	4						c.(1126-1131)tcagacfs		transmembrane protease, serine 2																																				SO:0001589	frameshift_variant	0				proteolysis	cytoplasm|extracellular region|integral to plasma membrane	scavenger receptor activity|serine-type endopeptidase activity	g.chr21:42843790_42843791insG	U75329	CCDS33564.1, CCDS54486.1	21q22.3	2010-04-13			ENSG00000184012	ENSG00000184012		"Serine peptidases / Transmembrane"	11876	protein-coding gene	gene with protein product		602060				9325052	Standard	NM_005656		Approved	PRSS10	uc010gor.3	O15393	OTTHUMG00000086762	ENST00000332149.5:c.1018dupC	21.37:g.42843792_42843792dupG	ENSP00000330330:p.Lys340fs					TMPRSS2_ENST00000458356.1_Frame_Shift_Ins_p.D340fs|TMPRSS2_ENST00000332149.5_Frame_Shift_Ins_p.D340fs	p.D377fs	NM_001135099.1	NP_001128571.1	O15393	TMPS2_HUMAN			10	1188_1189	-		Prostate(19;4.48e-07)|all_epithelial(19;0.031)	340			Peptidase S1.		A8K6Z8|B2R8E5|B7Z459|D3DSJ2|F8WES1|Q6GTK7|Q9BXX1	Frame_Shift_Ins	INS	ENST00000332149.5	37	c.1128_1129insC	CCDS33564.1																																																																																				0.46	TMPRSS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195189.1			14	130						14	130	---	---	---	---	G	42843791	-	G	42843790	7	5	314	1	0	1	1	0	0	0	0	0	16244	1821	63	0	480	0	TMPRSS2	21	42843790	Frame_Shift_Ins	INS	-	TCGA-KK-A6E3-01A-21D-A30E-08	4332788	42843790	5286105	54	16167											
IL17RA	23765	broad.mit.edu	37	chr22	17589607	17589607	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagcctgcttcggcacctacGtagtctgctacttcagcgag	7	10	10	14	3	2	0	1	0	1	0	3	1	2	0	2	1	6	4	2	1	3	5			TCGA-KK-A6E3-01A-21D-A30E-08	TCGA-KK-A6E3-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1106f74-3476-405d-93ad-b718d7f393bc	ee4e1c2b-7911-4e58-a5c2-5211c8d6ef54	g.chr22:17589607G>A	ENST00000319363.6	+	13	1631	c.1498G>A	c.(1498-1500)Gta>Ata	p.V500I		NM_014339.5	NP_055154.3	Q96F46	I17RA_HUMAN	interleukin 17 receptor A	500	SEFIR. {ECO:0000255|PROSITE- ProRule:PRU00867}.				cell surface receptor signaling pathway (GO:0007166)|cytokine-mediated signaling pathway (GO:0019221)|fibroblast activation (GO:0072537)|positive regulation of cytokine production involved in inflammatory response (GO:1900017)|positive regulation of interleukin-23 production (GO:0032747)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	interleukin-17 receptor activity (GO:0030368)			endometrium(2)|large_intestine(8)|lung(16)|ovary(1)|skin(2)|stomach(1)	30		all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132)		Colorectal(9;0.241)		CGGCACCTACGTAGTCTGCTA	0.642																																						ENST00000319363.6																			0				endometrium(2)|large_intestine(8)|lung(16)|ovary(1)|skin(2)|stomach(1)	30						c.(1498-1500)Gta>Ata		interleukin 17 receptor A							29	31	30					22																	17589607		2203	4300	6503	SO:0001583	missense	23765				fibroblast activation|positive regulation of interleukin-23 production	integral to plasma membrane	interleukin-17 receptor activity	g.chr22:17589607G>A	U58917	CCDS13739.1	22q11.1	2014-09-17	2006-04-26	2006-04-26	ENSG00000177663	ENSG00000177663		"Interleukins and interleukin receptors", "CD molecules"	5985	protein-coding gene	gene with protein product		605461	"interleukin 17 receptor"	IL17R		9367539, 10591208	Standard	NM_014339		Approved	hIL-17R, IL-17RA, CDw217, CD217	uc002zly.4	Q96F46	OTTHUMG00000150026	ENST00000319363.6:c.1498G>A	22.37:g.17589607G>A	ENSP00000320936:p.Val500Ile						p.V500I	NM_014339.5	NP_055154.3	Q96F46	I17RA_HUMAN		Colorectal(9;0.241)	13	1631	+		all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132)	500			SEFIR.		O43844|Q20WK1	Missense_Mutation	SNP	ENST00000319363.6	37	c.1498G>A	CCDS13739.1	.	.	.	.	.	.	.	.	.	.	G	0.008	-1.887557	0.00527	.	.	ENSG00000177663	ENST00000425985;ENST00000319363	T	0.29655	1.56	5.46	-4.43	0.03568	SEFIR (1);	0.477489	0.22669	N	0.057081	T	0.07818	0.0196	N	0.01624	-0.795	0.19945	N	0.99994	B;B	0.15141	0.012;0.01	B;B	0.19391	0.025;0.013	T	0.35351	-0.9792	10	0.02654	T	1	-14.7139	11.3221	0.49428	0.3152:0.1008:0.5839:0.0	.	448;500	D3YTB4;Q96F46	.;I17RA_HUMAN	I	448;500	ENSP00000320936:V500I	ENSP00000320936:V500I	V	+	1	0	IL17RA	15969607	0.003000	0.15002	0.060000	0.19600	0.085000	0.17905	-0.096000	0.11059	-0.608000	0.05731	-0.391000	0.06502	GTA		0.642	IL17RA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315820.1	NM_014339		4	28	0	0	0	1	0	4	28					A	17589607	G	A	17589607	3	1	314	1	0	0	0	0	1	0	0	0	7639	1145	40	1	1548	1	IL17RA	22	17589607	Missense_Mutation	SNP	G	TCGA-KK-A6E3-01A-21D-A30E-08		17589607	33714959	55	16168											
XBP1	7494	broad.mit.edu	37	chr22	29196498	29196499	+	In_Frame_Ins	INS	-	-	GCC																															cggccgggttcggcgcggctINSgccaccaccaccatagctcc																								rs528996789	byFrequency	TCGA-KK-A6E3-01A-21D-A30E-08	TCGA-KK-A6E3-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1106f74-3476-405d-93ad-b718d7f393bc	ee4e1c2b-7911-4e58-a5c2-5211c8d6ef54	g.chr22:29196498_29196499insGCC	ENST00000216037.6	-	1	86_87	c.14_15insGGC	c.(13-15)gca>gcGGCa	p.5_5A>AA	XBP1_ENST00000403532.3_In_Frame_Ins_p.5_5A>AA|CTA-292E10.6_ENST00000585003.1_RNA|CTA-292E10.6_ENST00000458080.1_RNA|XBP1_ENST00000344347.5_In_Frame_Ins_p.5_5A>AA|CTA-292E10.6_ENST00000418292.1_RNA|XBP1_ENST00000405219.3_5'Flank|CTA-292E10.6_ENST00000451486.1_RNA	NM_001079539.1|NM_005080.3	NP_001073007.1|NP_005071.2	P17861	XBP1_HUMAN	X-box binding protein 1	5					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|cellular response to antibiotic (GO:0071236)|endoplasmic reticulum unfolded protein response (GO:0030968)|epithelial cell maturation involved in salivary gland development (GO:0060691)|exocrine pancreas development (GO:0031017)|glucose homeostasis (GO:0042593)|immune response (GO:0006955)|positive regulation of endoplasmic reticulum unfolded protein response (GO:1900103)|positive regulation of proteasomal protein catabolic process (GO:1901800)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to drug (GO:0042493)|response to electrical stimulus (GO:0051602)|serotonin secretion, neurotransmission (GO:0060096)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(1)|large_intestine(1)|lung(1)	5						TCGGCGCGGCTGCCACCACCAC	0.762																																						ENST00000216037.6																			0				breast(2)|endometrium(1)|large_intestine(1)|lung(1)	5						c.(13-15)ggc>gGGCgc		X-box binding protein 1			,	24,1974		9,6,984					,	1.1	1			2	13,4915		3,7,2454	no	coding,coding	XBP1	NM_005080.3,NM_001079539.1	,	12,13,3438	A1A1,A1R,RR		0.2638,1.2012,0.5342	,	,		37,6889				SO:0001652	inframe_insertion	7494				immune response	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr22:29196498_29196499insGCC	M31627	CCDS13847.1	22q12.1	2013-01-10			ENSG00000100219	ENSG00000100219		"basic leucine zipper proteins"	12801	protein-coding gene	gene with protein product		194355		XBP2		1718857, 2196176	Standard	NM_001079539		Approved		uc003aec.3	P17861	OTTHUMG00000151094	ENST00000216037.6:c.12_14dupGGC	22.37:g.29196499_29196501dupGCC	ENSP00000216037:p.Ala7dup					XBP1_ENST00000344347.5_In_Frame_Ins_p.5_6insR|XBP1_ENST00000403532.3_In_Frame_Ins_p.5_6insR	p.5_6insR	NM_001079539.1|NM_005080.3	NP_001073007.1|NP_005071.2	P17861	XBP1_HUMAN			1	86_87	-			5					Q8WYK6|Q969P1|Q96BD7	In_Frame_Ins	INS	ENST00000216037.6	37	c.14_15insGGC	CCDS13847.1																																																																																				0.762	XBP1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000321274.1	NM_005080		4	7						4	7	---	---	---	---	GCC	29196499	-	GCC	29196498	7	5	314	1	0	1	1	0	0	0	0	0	17419	1567	55	0	1161	0	XBP1	22	29196498	In_Frame_Ins	INS	-	TCGA-KK-A6E3-01A-21D-A30E-08	11606891	29196498	22108068	56	16169											
AADACL4	343066	broad.mit.edu	37	chr1	12726653	12726653	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacctgtatgatggttttcaCggatccattatcttttttga	8	18	7	8	1	2	2	1	2	1	0	3	3	3	3	2	2	0	2	2	2	2	7	rs368235693		TCGA-KK-A6E4-01A-11D-A30E-08	TCGA-KK-A6E4-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40596942-42c7-4514-8bf8-a5290015cfd8	03842b93-be03-4e34-a1c4-c29aa2f3a1ec	g.chr1:12726653C>T	ENST00000376221.1	+	4	1131	c.1131C>T	c.(1129-1131)caC>caT	p.H377H		NM_001013630.1	NP_001013652.1	Q5VUY2	ADCL4_HUMAN	arylacetamide deacetylase-like 4	377						integral component of membrane (GO:0016021)	carboxylic ester hydrolase activity (GO:0052689)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)	17	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.000937)|all_lung(284;0.00122)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.81e-07)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0384)		ATGGTTTTCACGGATCCATTA	0.443																																						ENST00000376221.1																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)	17						c.(1129-1131)caC>caT		arylacetamide deacetylase-like 4		C		0,4406		0,0,2203	76	80	79		1131	-4	0	1		79	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	AADACL4	NM_001013630.1		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		377/408	12726653	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	343066					integral to membrane	carboxylesterase activity	g.chr1:12726653C>T		CCDS30590.1	1p36.21	2010-12-14			ENSG00000204518	ENSG00000204518			32038	protein-coding gene	gene with protein product							Standard	XM_006710608		Approved	OTTHUMG00000001889	uc001auf.3	Q5VUY2	OTTHUMG00000001889	ENST00000376221.1:c.1131C>T	1.37:g.12726653C>T							p.H377H	NM_001013630.1	NP_001013652.1	Q5VUY2	ADCL4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.81e-07)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0384)	4	1131	+	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.000937)|all_lung(284;0.00122)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)	377						Silent	SNP	ENST00000376221.1	37	c.1131C>T	CCDS30590.1																																																																																				0.443	AADACL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005328.1	NM_001013630		34	75	0	0	0	1	0	34	75					T	12726653	C	T	12726653	2	4	315	1	0	0	0	0	0	0	0	1	13	535	19	1		1	AADACL4	1	12726653	Silent	SNP	C	TCGA-KK-A6E4-01A-11D-A30E-08		12726653	236523968	1	16170											
PTCH2	8643	broad.mit.edu	37	chr1	45307636	45307636	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gccacaatgtctctggatccCgcatcccagagagaagagca	12	6	10	13	1	1	3	0	0	1	3	4	5	3	4	3	1	1	2	3	1	2	0			TCGA-KK-A6E4-01A-11D-A30E-08	TCGA-KK-A6E4-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40596942-42c7-4514-8bf8-a5290015cfd8	03842b93-be03-4e34-a1c4-c29aa2f3a1ec	g.chr1:45307636C>T	ENST00000372192.3	-	2	278	c.148G>A	c.(148-150)Ggg>Agg	p.G50R	PTCH2_ENST00000447098.2_Missense_Mutation_p.G50R	NM_003738.4	NP_003729.3	Q9Y6C5	PTC2_HUMAN	patched 2	50					epidermis development (GO:0008544)|hair cycle (GO:0042633)|negative regulation of smoothened signaling pathway (GO:0045879)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	hedgehog family protein binding (GO:0097108)|hedgehog receptor activity (GO:0008158)|smoothened binding (GO:0005119)			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	50	Acute lymphoblastic leukemia(166;0.155)					CTCTGGATCCCGCATCCCAGA	0.552									Basal Cell Nevus syndrome																													ENST00000447098.2																			0				NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	50						c.(148-150)Ggg>Agg		patched 2							114	113	114					1																	45307636		2203	4300	6503	SO:0001583	missense	8643	Basal Cell Nevus syndrome	Familial Cancer Database	Gorlin syndrome, Gorlin-Golz syndrome, Naevoid Basal Cell Carcinoma syndrome, NBCCS	protein complex assembly|spermatogenesis	integral to plasma membrane	hedgehog receptor activity	g.chr1:45307636C>T	AF091501	CCDS516.1, CCDS53312.1	1p34.1	2010-06-24	2010-06-24		ENSG00000117425	ENSG00000117425			9586	protein-coding gene	gene with protein product		603673	"patched (Drosophila) homolog 2", "patched homolog 2 (Drosophila)"			9811851, 9931336	Standard	NM_003738		Approved		uc010olf.2	Q9Y6C5	OTTHUMG00000008490	ENST00000372192.3:c.148G>A	1.37:g.45307636C>T	ENSP00000361266:p.Gly50Arg					PTCH2_ENST00000372192.3_Missense_Mutation_p.G50R	p.G50R	NM_001166292.1	NP_001159764.1	Q9Y6C5	PTC2_HUMAN			2	159	-	Acute lymphoblastic leukemia(166;0.155)		50					O95341|O95856|Q53Z57|Q5QP87|Q6UX14	Missense_Mutation	SNP	ENST00000372192.3	37	c.148G>A	CCDS516.1	.	.	.	.	.	.	.	.	.	.	C	8.238	0.806256	0.16467	.	.	ENSG00000117425	ENST00000447098;ENST00000372192	T;T	0.71579	-0.58;-0.58	4.49	2.12	0.27331	.	0.494573	0.17436	N	0.174299	T	0.40743	0.1129	N	0.04508	-0.205	0.24385	N	0.994776	B	0.02656	0.0	B	0.01281	0.0	T	0.16541	-1.0399	10	0.27082	T	0.32	0.038	2.8554	0.05571	0.3084:0.3995:0.0:0.2921	.	50	Q9Y6C5	PTC2_HUMAN	R	50	ENSP00000389703:G50R;ENSP00000361266:G50R	ENSP00000361266:G50R	G	-	1	0	PTCH2	45080223	0.067000	0.21026	0.987000	0.45799	0.676000	0.39594	-0.056000	0.11787	0.250000	0.21479	-0.258000	0.10820	GGG		0.552	PTCH2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000023428.4	NM_003738		85	90	0	0	0	1	0	85	90					T	45307636	C	T	45307636	3	4	315	1	0	0	0	0	1	0	0	0	12731	652	23	2	3567	2	PTCH2	1	45307636	Missense_Mutation	SNP	C	TCGA-KK-A6E4-01A-11D-A30E-08	32580983	45307636	203942985	2	16171											
BCAR3	8412	broad.mit.edu	37	chr1	94054885	94054885	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgaagtgctgagcgaggttcTtccactgacaggtcaggaca	10	9	13	9	1	2	3	1	3	1	0	3	5	3	4	1	3	2	2	1	3	1	2			TCGA-KK-A6E4-01A-11D-A30E-08	TCGA-KK-A6E4-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40596942-42c7-4514-8bf8-a5290015cfd8	03842b93-be03-4e34-a1c4-c29aa2f3a1ec	g.chr1:94054885T>G	ENST00000370244.1	-	7	866	c.578A>C	c.(577-579)aAg>aCg	p.K193T	RP5-1033H22.2_ENST00000417401.1_RNA|RP5-1033H22.2_ENST00000427243.1_RNA|BCAR3_ENST00000370247.3_Missense_Mutation_p.K102T|RP5-1033H22.2_ENST00000431770.1_RNA|BCAR3_ENST00000260502.6_Missense_Mutation_p.K193T|BCAR3_ENST00000370243.1_Missense_Mutation_p.K193T	NM_001261408.1	NP_001248337.1	O75815	BCAR3_HUMAN	breast cancer anti-estrogen resistance 3	193	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				lens morphogenesis in camera-type eye (GO:0002089)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|response to drug (GO:0042493)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)		guanyl-nucleotide exchange factor activity (GO:0005085)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)	25		all_lung(203;0.00145)|Lung NSC(277;0.00662)		all cancers(265;0.0126)|GBM - Glioblastoma multiforme(16;0.0467)|Epithelial(280;0.166)		AGCGAGGTTCTTCCACTGACA	0.547																																						ENST00000370244.1																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)	25						c.(577-579)aAg>aCg		breast cancer anti-estrogen resistance 3							54	54	54					1																	94054885		2203	4300	6503	SO:0001583	missense	8412				response to drug|small GTPase mediated signal transduction	intracellular	guanyl-nucleotide exchange factor activity|protein binding	g.chr1:94054885T>G	U92715	CCDS745.1, CCDS58010.1	1p22.1	2013-02-14			ENSG00000137936	ENSG00000137936		"SH2 domain containing"	973	protein-coding gene	gene with protein product		604704				9582273	Standard	NM_001261408		Approved	NSP2, SH2D3B	uc001dpz.4	O75815	OTTHUMG00000010301	ENST00000370244.1:c.578A>C	1.37:g.94054885T>G	ENSP00000359264:p.Lys193Thr					BCAR3_ENST00000370243.1_Missense_Mutation_p.K193T|BCAR3_ENST00000260502.6_Missense_Mutation_p.K193T|BCAR3_ENST00000370247.3_Missense_Mutation_p.K102T	p.K193T	NM_001261408.1	NP_001248337.1	O75815	BCAR3_HUMAN		all cancers(265;0.0126)|GBM - Glioblastoma multiforme(16;0.0467)|Epithelial(280;0.166)	7	866	-		all_lung(203;0.00145)|Lung NSC(277;0.00662)	193			SH2.		D3DT43|Q5TEW3|Q6UW40|Q9BR50	Missense_Mutation	SNP	ENST00000370244.1	37	c.578A>C	CCDS745.1	.	.	.	.	.	.	.	.	.	.	T	21.0	4.083897	0.76642	.	.	ENSG00000137936	ENST00000370247;ENST00000260502;ENST00000370244;ENST00000370243	T;T;T;T	0.64438	-0.1;-0.1;-0.1;-0.1	4.96	4.96	0.65561	SH2 motif (4);	0.044485	0.85682	D	0.000000	T	0.64170	0.2574	L	0.44542	1.39	0.80722	D	1	D;D	0.60160	0.973;0.987	D;P	0.64506	0.926;0.905	T	0.68903	-0.5286	10	0.62326	D	0.03	-2.1118	14.9211	0.70838	0.0:0.0:0.0:1.0	.	193;102	O75815;Q5TEW3	BCAR3_HUMAN;.	T	102;193;193;193	ENSP00000359267:K102T;ENSP00000260502:K193T;ENSP00000359264:K193T;ENSP00000359263:K193T	ENSP00000260502:K193T	K	-	2	0	BCAR3	93827473	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	3.729000	0.54999	1.997000	0.58415	0.459000	0.35465	AAG		0.547	BCAR3-003	NOVEL	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028420.1			4	52	0	0	0	1	0	4	52					G	94054885	T	G	94054885	3	3	315	1	0	0	0	0	1	0	0	0	1349	1609	56	5	1931	5	BCAR3	1	94054885	Missense_Mutation	SNP	T	TCGA-KK-A6E4-01A-11D-A30E-08	48747249	94054885	155195736	3	16172											
SPTA1	6708	broad.mit.edu	37	chr1	158618311	158618311	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tgtctcaccttatctcccagGggtacgaggtccctttcaaa	8	12	8	13	1	3	0	2	0	2	0	6	1	4	0	3	3	1	1	3	3	3	3	rs376004665		TCGA-KK-A6E4-01A-11D-A30E-08	TCGA-KK-A6E4-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40596942-42c7-4514-8bf8-a5290015cfd8	03842b93-be03-4e34-a1c4-c29aa2f3a1ec	g.chr1:158618311G>T	ENST00000368147.4	-	26	3882	c.3702C>A	c.(3700-3702)ccC>ccA	p.P1234P		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	1234					actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					TATCTCCCAGGGGTACGAGGT	0.493																																						ENST00000368148.3																			0				NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307						c.(3700-3702)ccC>ccA		spectrin, alpha, erythrocytic 1 (elliptocytosis 2)		G		0,3828		0,0,1914	109	109	109		3702	-0.9	1	1		109	1,8251		0,1,4125	no	coding-synonymous	SPTA1	NM_003126.2		0,1,6039	TT,TG,GG		0.0121,0.0,0.0083		1234/2420	158618311	1,12079	1914	4126	6040	SO:0001819	synonymous_variant	6708				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	g.chr1:158618311G>T	M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"EF-hand domain containing"	11272	protein-coding gene	gene with protein product	"elliptocytosis 2"	182860	"spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.3702C>A	1.37:g.158618311G>T						SPTA1_ENST00000368147.3_Silent_p.P1234P	p.P1234P	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN			26	3882	-	all_hematologic(112;0.0378)		1234					Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Silent	SNP	ENST00000368147.4	37	c.3702C>A	CCDS41423.1																																																																																				0.493	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126		43	71	1	0	6.1244e-12	1	6.87652e-12	43	71					T	158618311	G	T	158618311	2	4	315	1	0	0	0	0	0	0	0	1	15115	1219	43	5		5	SPTA1	1	158618311	Silent	SNP	G	TCGA-KK-A6E4-01A-11D-A30E-08	64563426	158618311	90632310	4	16173											
ATP1A2	477	broad.mit.edu	37	chr1	160099088	160099088	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtgatgcctctgagtcagcTctgctcaagtgcattgagct	7	12	12	10	0	4	3	2	3	2	0	4	3	4	3	1	1	5	4	1	1	1	1			TCGA-KK-A6E4-01A-11D-A30E-08	TCGA-KK-A6E4-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40596942-42c7-4514-8bf8-a5290015cfd8	03842b93-be03-4e34-a1c4-c29aa2f3a1ec	g.chr1:160099088T>C	ENST00000361216.3	+	11	1448	c.1359T>C	c.(1357-1359)gcT>gcC	p.A453A	ATP1A2_ENST00000392233.3_Silent_p.A453A	NM_000702.3	NP_000693.1	P50993	AT1A2_HUMAN	ATPase, Na+/K+ transporting, alpha 2 polypeptide	453					adult locomotory behavior (GO:0008344)|ATP biosynthetic process (GO:0006754)|ATP hydrolysis coupled proton transport (GO:0015991)|cardiac muscle contraction (GO:0060048)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular potassium ion homeostasis (GO:0030007)|cellular response to mechanical stimulus (GO:0071260)|cellular response to steroid hormone stimulus (GO:0071383)|cellular sodium ion homeostasis (GO:0006883)|ion transmembrane transport (GO:0034220)|locomotion (GO:0040011)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|negative regulation of heart contraction (GO:0045822)|negative regulation of striated muscle contraction (GO:0045988)|neurotransmitter uptake (GO:0001504)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|regulation of smooth muscle contraction (GO:0006940)|regulation of striated muscle contraction (GO:0006942)|regulation of the force of heart contraction (GO:0002026)|regulation of vasoconstriction (GO:0019229)|relaxation of cardiac muscle (GO:0055119)|response to nicotine (GO:0035094)|sodium ion export from cell (GO:0036376)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|visual learning (GO:0008542)	caveola (GO:0005901)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|endosome (GO:0005768)|plasma membrane (GO:0005886)|sodium:potassium-exchanging ATPase complex (GO:0005890)|synapse (GO:0045202)|T-tubule (GO:0030315)|vesicle (GO:0031982)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|metal ion binding (GO:0046872)|sodium:potassium-exchanging ATPase activity (GO:0005391)|steroid hormone binding (GO:1990239)			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(30)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	69	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			CTGAGTCAGCTCTGCTCAAGT	0.532																																						ENST00000361216.3																			0				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(30)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	69						c.(1357-1359)gcT>gcC		ATPase, Na+/K+ transporting, alpha 2 polypeptide							167	162	164					1																	160099088		2203	4300	6503	SO:0001819	synonymous_variant	477				ATP biosynthetic process		ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity	g.chr1:160099088T>C	AB018321	CCDS1196.1	1q23.2	2014-09-17	2010-04-20		ENSG00000018625	ENSG00000018625	3.6.3.9	"ATPases / P-type"	800	protein-coding gene	gene with protein product	"sodium/potassium-transporting ATPase subunit alpha-2", "sodium pump subunit alpha-2", "sodium-potassium ATPase catalytic subunit alpha-2"	182340	"migraine, hemiplegic 2", "ATPase, Na+/K+ transporting, alpha 2 (+) polypeptide"	MHP2		9403481	Standard	NM_000702		Approved	FHM2	uc001fvc.3	P50993	OTTHUMG00000024080	ENST00000361216.3:c.1359T>C	1.37:g.160099088T>C						ATP1A2_ENST00000392233.3_Silent_p.A453A|ATP1A2_ENST00000472488.1_3'UTR	p.A453A	NM_000702.3	NP_000693.1	P50993	AT1A2_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)		11	1448	+	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		453					D3DVE4|Q07059|Q5JW74|Q86UZ5|Q9UQ25	Silent	SNP	ENST00000361216.3	37	c.1359T>C	CCDS1196.1	.	.	.	.	.	.	.	.	.	.	T	11.14	1.551677	0.27739	.	.	ENSG00000018625	ENST00000447527	.	.	.	4.66	-3.45	0.04781	.	.	.	.	.	T	0.34250	0.0891	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.42582	-0.9443	4	.	.	.	.	7.0025	0.24817	0.1311:0.4785:0.0:0.3905	.	.	.	.	P	164	.	.	L	+	2	0	ATP1A2	158365712	0.000000	0.05858	0.974000	0.42286	0.991000	0.79684	-1.946000	0.01536	-0.632000	0.05553	0.459000	0.35465	CTC		0.532	ATP1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060642.2	NM_000702		29	223	0	0	0	1	0	29	223					C	160099088	T	C	160099088	2	2	315	1	0	0	0	0	0	0	0	1	1129	1538	54	4		4	ATP1A2	1	160099088	Silent	SNP	T	TCGA-KK-A6E4-01A-11D-A30E-08	1480777	160099088	89151533	5	16174											
SOS1	6654	broad.mit.edu	37	chr2	39250208	39250208	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tgtgtctctcatgtttggctCctacacgtgtaagagttcct	6	16	9	10	1	2	1	1	0	1	1	5	1	4	1	2	1	1	4	2	1	2	4			TCGA-KK-A6E4-01A-11D-A30E-08	TCGA-KK-A6E4-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40596942-42c7-4514-8bf8-a5290015cfd8	03842b93-be03-4e34-a1c4-c29aa2f3a1ec	g.chr2:39250208C>T	ENST00000426016.1	-	11	1447	c.1361G>A	c.(1360-1362)gGa>gAa	p.G454E	SOS1_ENST00000395038.2_Missense_Mutation_p.G454E|SOS1_ENST00000472480.1_5'UTR|SOS1_ENST00000402219.2_Missense_Mutation_p.G454E			Q07889	SOS1_HUMAN	son of sevenless homolog 1 (Drosophila)	454	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of epidermal growth factor receptor signaling pathway (GO:0045742)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|Ras protein signal transduction (GO:0007265)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	DNA binding (GO:0003677)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|Rho GTPase activator activity (GO:0005100)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			autonomic_ganglia(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(29)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	75		all_hematologic(82;0.21)				ATGTTTGGCTCCTACACGTGT	0.393									Noonan syndrome																													ENST00000426016.1																			0				autonomic_ganglia(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(29)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	75						c.(1360-1362)gGa>gAa		son of sevenless homolog 1 (Drosophila)							120	112	115					2																	39250208		2203	4300	6503	SO:0001583	missense	6654	Noonan syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome	apoptosis|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	cytosol	DNA binding|protein binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	g.chr2:39250208C>T	L13857	CCDS1802.1	2p21	2014-09-17	2002-11-05		ENSG00000115904	ENSG00000115904		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	11187	protein-coding gene	gene with protein product		182530	"gingival fibromatosis, hereditary, 1"	GINGF		8276400, 10995566	Standard	NM_005633		Approved	HGF, GF1	uc002rrk.4	Q07889	OTTHUMG00000102109	ENST00000426016.1:c.1361G>A	2.37:g.39250208C>T	ENSP00000387784:p.Gly454Glu					SOS1_ENST00000472480.1_5'UTR|SOS1_ENST00000395038.2_Missense_Mutation_p.G454E|SOS1_ENST00000402219.2_Missense_Mutation_p.G454E	p.G454E			Q07889	SOS1_HUMAN			11	1447	-		all_hematologic(82;0.21)	454			PH.		A8K2G3|B4DXG2	Missense_Mutation	SNP	ENST00000426016.1	37	c.1361G>A	CCDS1802.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.101167	0.76983	.	.	ENSG00000115904	ENST00000426016;ENST00000402219;ENST00000543698;ENST00000395038;ENST00000263879	T;T;T	0.75260	-0.92;-0.92;-0.92	5.52	5.52	0.82312	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.85682	D	0.000000	D	0.86255	0.5889	M	0.78637	2.42	0.80722	D	1	D;D	0.65815	0.995;0.995	P;D	0.63703	0.901;0.917	D	0.87110	0.2184	10	0.72032	D	0.01	.	19.8	0.96502	0.0:1.0:0.0:0.0	.	186;454	F5GX06;Q07889	.;SOS1_HUMAN	E	454;454;186;454;454	ENSP00000387784:G454E;ENSP00000384675:G454E;ENSP00000378479:G454E	ENSP00000263879:G454E	G	-	2	0	SOS1	39103712	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	7.669000	0.83911	2.753000	0.94483	0.557000	0.71058	GGA		0.393	SOS1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219948.3	NM_005633		49	59	0	0	0	1	0	49	59					T	39250208	C	T	39250208	3	4	315	1	0	0	0	0	1	0	0	0	14936	855	30	3	2696	3	SOS1	2	39250208	Missense_Mutation	SNP	C	TCGA-KK-A6E4-01A-11D-A30E-08		39250208	203949165	6	16175											
HOXD12	3238	broad.mit.edu	37	chr2	176965063	176965063	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttgaacatgacagtgcaggcGgcgggcgttgcctcttgcct	6	10	14	11	3	1	2	0	2	1	0	1	2	1	2	2	3	4	2	2	3	1	3			TCGA-KK-A6E4-01A-11D-A30E-08	TCGA-KK-A6E4-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40596942-42c7-4514-8bf8-a5290015cfd8	03842b93-be03-4e34-a1c4-c29aa2f3a1ec	g.chr2:176965063G>A	ENST00000406506.2	+	1	606	c.534G>A	c.(532-534)gcG>gcA	p.A178A	HOXD12_ENST00000404162.2_Silent_p.A178A			P35452	HXD12_HUMAN	homeobox D12	178					embryonic digit morphogenesis (GO:0042733)|pattern specification process (GO:0007389)|regulation of transcription, DNA-templated (GO:0006355)|skeletal system development (GO:0001501)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	sequence-specific DNA binding (GO:0043565)			central_nervous_system(1)|large_intestine(1)|lung(7)|ovary(1)	10			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	Colorectal(32;0.0521)|READ - Rectum adenocarcinoma(9;0.0678)		CAGTGCAGGCGGCGGGCGTTG	0.687																																						ENST00000406506.2																			0				central_nervous_system(1)|large_intestine(1)|lung(7)|ovary(1)	10						c.(532-534)gcG>gcA		homeobox D12							16	18	17					2																	176965063		1823	3940	5763	SO:0001819	synonymous_variant	3238					nuclear chromosome	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:176965063G>A		CCDS46456.1	2q31.1	2011-06-20	2005-12-22		ENSG00000170178	ENSG00000170178		"Homeoboxes / ANTP class : HOXL subclass"	5135	protein-coding gene	gene with protein product		142988	"homeo box D12"	HOX4H		1675198, 1973146	Standard	NM_021193		Approved		uc010zev.1	P35452	OTTHUMG00000150358	ENST00000406506.2:c.534G>A	2.37:g.176965063G>A						HOXD12_ENST00000404162.2_Silent_p.A178A	p.A178A			P35452	HXD12_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	Colorectal(32;0.0521)|READ - Rectum adenocarcinoma(9;0.0678)	1	606	+			178					B5MCP0|Q0VAD7|Q0VAD8|Q9NS03	Silent	SNP	ENST00000406506.2	37	c.534G>A	CCDS46456.1																																																																																				0.687	HOXD12-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359253.2	NM_021193		12	25	0	0	0	1	0	12	25					A	176965063	G	A	176965063	2	1	315	1	0	0	0	0	0	0	0	1	7321	1103	39	2		2	HOXD12	2	176965063	Silent	SNP	G	TCGA-KK-A6E4-01A-11D-A30E-08	137714855	176965063	66234310	7	16176											
TTN	7273	broad.mit.edu	37	chr2	179393601	179393601	+	Nonsense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	caccagcaatgttggcttttAaaaccagtctttgaccttcg	10	13	7	11	1	1	1	0	1	1	0	2	1	1	1	3	1	2	3	3	1	3	5			TCGA-KK-A6E4-01A-11D-A30E-08	TCGA-KK-A6E4-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40596942-42c7-4514-8bf8-a5290015cfd8	03842b93-be03-4e34-a1c4-c29aa2f3a1ec	g.chr2:179393601A>C	ENST00000591111.1	-	310	102178	c.101954T>G	c.(101953-101955)tTa>tGa	p.L33985*	TTN_ENST00000359218.5_Nonsense_Mutation_p.L26686*|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Nonsense_Mutation_p.L26753*|TTN-AS1_ENST00000604571.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000587944.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000587576.1_RNA|TTN_ENST00000589042.1_Nonsense_Mutation_p.L35626*|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000587568.1_RNA|TTN_ENST00000342992.6_Nonsense_Mutation_p.L33058*|TTN_ENST00000460472.2_Nonsense_Mutation_p.L26561*|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000589355.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592161.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000585625.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000431259.2_RNA			Q8WZ42	TITIN_HUMAN	titin	33985	Ig-like 150.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GTTGGCTTTTAAAACCAGTCT	0.433																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(106876-106878)tTa>tGa		titin							139	128	132					2																	179393601		1971	4163	6134	SO:0001587	stop_gained	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179393601A>C	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.101954T>G	2.37:g.179393601A>C	ENSP00000465570:p.Leu33985*					TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000587568.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000604571.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000342992.6_Nonsense_Mutation_p.L33058*|TTN-AS1_ENST00000592182.1_RNA|TTN_ENST00000342175.6_Nonsense_Mutation_p.L26753*|TTN_ENST00000359218.5_Nonsense_Mutation_p.L26686*|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000591111.1_Nonsense_Mutation_p.L33985*|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN_ENST00000460472.2_Nonsense_Mutation_p.L26561*|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000587944.1_RNA|TTN-AS1_ENST00000585625.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000431259.2_RNA	p.L35626*	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		360	107101	-			33985					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Nonsense_Mutation	SNP	ENST00000591111.1	37	c.106877T>G		.	.	.	.	.	.	.	.	.	.	A	80	147.791356	0.99999	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	.	.	.	5.56	5.56	0.83823	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	15.3694	0.74551	1.0:0.0:0.0:0.0	.	.	.	.	X	33058;26561;26753;26686;26558	.	ENSP00000340554:L26753X	L	-	2	0	TTN	179101847	1.000000	0.71417	1.000000	0.80357	0.807000	0.45602	8.410000	0.90225	2.108000	0.64289	0.459000	0.35465	TTA		0.433	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		10	21	0	0	0	1	0	10	21					C	179393601	A	C	179393601	4	2	315	1	0	0	0	0	0	1	0	0	16732	372	13	5	1114	5	TTN	2	179393601	Nonsense_Mutation	SNP	A	TCGA-KK-A6E4-01A-11D-A30E-08	2428538	179393601	63805772	8	16177											
ABTB1	80325	broad.mit.edu	37	chr3	127399141	127399141	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgggaggacttcgtggaggcGgtgaaggaggaggcagcggc	8	4	22	7	4	0	1	0	1	0	0	1	6	0	6	0	9	1	1	0	9	1	1			TCGA-KK-A6E4-01A-11D-A30E-08	TCGA-KK-A6E4-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40596942-42c7-4514-8bf8-a5290015cfd8	03842b93-be03-4e34-a1c4-c29aa2f3a1ec	g.chr3:127399141G>A	ENST00000232744.8	+	12	1346	c.1260G>A	c.(1258-1260)gcG>gcA	p.A420A	ABTB1_ENST00000468137.1_Silent_p.A278A|ABTB1_ENST00000393363.3_Silent_p.A278A|ABTB1_ENST00000453791.2_Silent_p.A278A					ankyrin repeat and BTB (POZ) domain containing 1											central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	10						TCGTGGAGGCGGTGAAGGAGG	0.672																																						ENST00000468137.1																			0				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	10						c.(832-834)gcG>gcA		ankyrin repeat and BTB (POZ) domain containing 1							44	39	41					3																	127399141		2202	4298	6500	SO:0001819	synonymous_variant	80325					cytoplasm|nucleolus|plasma membrane	translation elongation factor activity	g.chr3:127399141G>A	AB053324	CCDS3045.1, CCDS46901.1	3q21	2013-01-10			ENSG00000114626	ENSG00000114626		"BTB/POZ domain containing", "Ankyrin repeat domain containing"	18275	protein-coding gene	gene with protein product		608308				10891360, 11494141	Standard	NM_172027		Approved	BPOZ, EF1ABP, Btb3, BTBD21	uc003ejt.3	Q969K4	OTTHUMG00000159636	ENST00000232744.8:c.1260G>A	3.37:g.127399141G>A						ABTB1_ENST00000453791.2_Silent_p.A278A|ABTB1_ENST00000393363.3_Silent_p.A278A|ABTB1_ENST00000232744.8_Silent_p.A420A	p.A278A			Q969K4	ABTB1_HUMAN			11	1450	+			420			BTB 2.			Silent	SNP	ENST00000232744.8	37	c.834G>A	CCDS3045.1																																																																																				0.672	ABTB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356595.1	NM_172027		10	28	0	0	0	1	0	10	28					A	127399141	G	A	127399141	2	1	315	1	0	0	0	0	0	0	0	1	102	1103	39	2		2	ABTB1	3	127399141	Silent	SNP	G	TCGA-KK-A6E4-01A-11D-A30E-08		127399141	70623289	9	16178											
WDFY3	23001	broad.mit.edu	37	chr4	85699758	85699758	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	aaagaaaaagttagatggagGatgtggctgttaagaaggga	17	8	15	1	0	0	3	0	0	0	3	0	6	0	6	0	4	0	3	0	4	6	2	rs146868524		TCGA-KK-A6E4-01A-11D-A30E-08	TCGA-KK-A6E4-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40596942-42c7-4514-8bf8-a5290015cfd8	03842b93-be03-4e34-a1c4-c29aa2f3a1ec	g.chr4:85699758G>A	ENST00000295888.4	-	27	4823	c.4416C>T	c.(4414-4416)atC>atT	p.I1472I	WDFY3_ENST00000322366.6_Silent_p.I1472I	NM_014991.4	NP_055806.2	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	1472					aggrephagy (GO:0035973)|positive regulation of macroautophagy (GO:0016239)	autophagic vacuole (GO:0005776)|cytoplasm (GO:0005737)|extrinsic component of membrane (GO:0019898)|inclusion body (GO:0016234)|nuclear envelope (GO:0005635)|PML body (GO:0016605)	1-phosphatidylinositol binding (GO:0005545)|beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity (GO:0003831)|metal ion binding (GO:0046872)			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		TTAGATGGAGGATGTGGCTGT	0.388													G|||	1	0.000199681	8e-04	0	5008	,	,		15250	0		0	False		,,,				2504	0					ENST00000322366.6																			0				breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						c.(4414-4416)atC>atT		WD repeat and FYVE domain containing 3		G		1,4405	2.1+/-5.4	0,1,2202	121	122	122		4416	2.7	1	4	dbSNP_134	122	0,8600		0,0,4300	no	coding-synonymous	WDFY3	NM_014991.4		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		1472/3527	85699758	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	23001					cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding	g.chr4:85699758G>A	AB023210	CCDS3609.1	4q21.3	2013-01-09			ENSG00000163625	ENSG00000163625		"Zinc fingers, FYVE domain containing", "WD repeat domain containing"	20751	protein-coding gene	gene with protein product						10231032	Standard	NM_014991		Approved	KIAA0993, ALFY, ZFYVE25	uc003hpd.3	Q8IZQ1	OTTHUMG00000130424	ENST00000295888.4:c.4416C>T	4.37:g.85699758G>A						WDFY3_ENST00000295888.4_Silent_p.I1472I	p.I1472I			Q8IZQ1	WDFY3_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000808)	27	4823	-		Hepatocellular(203;0.114)	1472					Q4W5K5|Q6P0Q5|Q8N1T2|Q8NAV6|Q96BS7|Q96D33|Q96N85|Q9Y2J7	Silent	SNP	ENST00000295888.4	37	c.4416C>T	CCDS3609.1																																																																																				0.388	WDFY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252811.2	NM_014991		29	43	0	0	0	1	0	29	43					A	85699758	G	A	85699758	2	1	315	1	0	0	0	0	0	0	0	1	17267	1164	41	3		3	WDFY3	4	85699758	Silent	SNP	G	TCGA-KK-A6E4-01A-11D-A30E-08		85699758	105454518	10	16179											
PCDHA9	9752	broad.mit.edu	37	chr5	140229523	140229523	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcacggtgtctgcgcgggaCgctgacgcgcaggagaacgc	7	6	16	12	7	2	2	1	1	1	1	2	4	2	3	0	3	2	2	0	3	1	1			TCGA-KK-A6E4-01A-11D-A30E-08	TCGA-KK-A6E4-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40596942-42c7-4514-8bf8-a5290015cfd8	03842b93-be03-4e34-a1c4-c29aa2f3a1ec	g.chr5:140229523C>T	ENST00000532602.1	+	1	2476	c.1443C>T	c.(1441-1443)gaC>gaT	p.D481D	PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA9_ENST00000378122.3_Silent_p.D481D	NM_031857.1	NP_114063.1	Q9Y5H5	PCDA9_HUMAN	protocadherin alpha 9	481	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	59			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGCGCGGGACGCTGACGCGC	0.657																																					Melanoma(55;1800 1972 14909)	ENST00000378122.3																			0				breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	59						c.(1441-1443)gaC>gaT									56	63	61					5																	140229523		2195	4266	6461	SO:0001819	synonymous_variant	0							g.chr5:140229523C>T	AF152487	CCDS54920.1	5q31	2010-11-26				ENSG00000204961		"Cadherins / Protocadherins : Clustered"	8675	other	complex locus constituent	"KIAA0345-like 5"	606315				10380929	Standard	NM_031857		Approved	KIAA0345, PCDH-ALPHA9		Q9Y5H5		ENST00000532602.1:c.1443C>T	5.37:g.140229523C>T						PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA9_ENST00000532602.1_Silent_p.D481D|PCDHA8_ENST00000531613.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA4_ENST00000512229.2_Intron	p.D481D	NM_014005.3	NP_054724.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2167	+								O15053|Q2M3S5	Silent	SNP	ENST00000532602.1	37	c.1443C>T	CCDS54920.1																																																																																				0.657	PCDHA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372896.2	NM_031857		34	82	0	0	0	1	0	34	82					T	140229523	C	T	140229523	2	4	315	1	0	0	0	0	0	0	0	1	11531	535	19	1		1	PCDHA9	5	140229523	Silent	SNP	C	TCGA-KK-A6E4-01A-11D-A30E-08		140229523	40685737	11	16180											
GEMIN5	25929	broad.mit.edu	37	chr5	154270986	154270986	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctggcatgcttttctgaaaaGagctccttaaaagtactcag	12	12	8	9	0	2	2	1	1	1	1	3	2	3	2	1	1	3	4	1	1	5	4			TCGA-KK-A6E4-01A-11D-A30E-08	TCGA-KK-A6E4-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40596942-42c7-4514-8bf8-a5290015cfd8	03842b93-be03-4e34-a1c4-c29aa2f3a1ec	g.chr5:154270986G>C	ENST00000285873.7	-	26	4152	c.4077C>G	c.(4075-4077)ctC>ctG	p.L1359L		NM_001252156.1|NM_015465.4	NP_001239085.1|NP_056280.2	Q8TEQ6	GEMI5_HUMAN	gem (nuclear organelle) associated protein 5	1359					gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|ncRNA metabolic process (GO:0034660)|protein complex assembly (GO:0006461)|RNA metabolic process (GO:0016070)|spliceosomal snRNP assembly (GO:0000387)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMN complex (GO:0032797)|SMN-Sm protein complex (GO:0034719)	poly(A) RNA binding (GO:0044822)|snRNA binding (GO:0017069)	p.L1359L(1)		breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			TTTCTGAAAAGAGCTCCTTAA	0.468																																						ENST00000285873.7																			1	Substitution - coding silent(1)	p.L1359L(1)	kidney(1)	breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38						c.(4075-4077)ctC>ctG		gem (nuclear organelle) associated protein 5							156	153	154					5																	154270986		2203	4300	6503	SO:0001819	synonymous_variant	25929				ncRNA metabolic process|protein complex assembly|spliceosomal snRNP assembly	Cajal body|cytosol|spliceosomal complex	protein binding|snRNA binding	g.chr5:154270986G>C	AK022748	CCDS4330.1	5q34	2013-01-10			ENSG00000082516	ENSG00000082516		"WD repeat domain containing"	20043	protein-coding gene	gene with protein product		607005				11714716	Standard	NM_015465		Approved		uc003lvx.3	Q8TEQ6	OTTHUMG00000130189	ENST00000285873.7:c.4077C>G	5.37:g.154270986G>C							p.L1359L	NM_001252156.1|NM_015465.4	NP_001239085.1|NP_056280.2	Q8TEQ6	GEMI5_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)		26	4152	-	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	1359					Q14CV0|Q8WWV4|Q969W4|Q9H9K3|Q9UFI5	Silent	SNP	ENST00000285873.7	37	c.4077C>G	CCDS4330.1																																																																																				0.468	GEMIN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252507.1			8	158	0	0	0	1	0	8	158					C	154270986	G	C	154270986	2	2	315	1	0	0	0	0	0	0	0	1	6331	929	33	5		5	GEMIN5	5	154270986	Silent	SNP	G	TCGA-KK-A6E4-01A-11D-A30E-08	14041463	154270986	26644274	12	16181											
ODZ2	57451	broad.mit.edu	37	chr5	167675119	167675119	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatcaaacagctgcagtacaCggcctatggggagatttatt	12	10	11	8	1	1	1	1	0	0	1	1	3	1	1	1	3	4	3	1	3	4	5			TCGA-KK-A6E4-01A-11D-A30E-08	TCGA-KK-A6E4-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40596942-42c7-4514-8bf8-a5290015cfd8	03842b93-be03-4e34-a1c4-c29aa2f3a1ec	g.chr5:167675119C>T	ENST00000518659.1	+	27	7214	c.7175C>T	c.(7174-7176)aCg>aTg	p.T2392M	TENM2_ENST00000519204.1_Missense_Mutation_p.T2271M|TENM2_ENST00000545108.1_Missense_Mutation_p.T2391M|TENM2_ENST00000520394.1_Missense_Mutation_p.T2153M|TENM2_ENST00000403607.2_Missense_Mutation_p.T2216M	NM_001122679.1	NP_001116151.1	Q9NT68	TEN2_HUMAN	teneurin transmembrane protein 2	2392					axon guidance (GO:0007411)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|heterophilic cell-cell adhesion (GO:0007157)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of filopodium assembly (GO:0051491)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cell-cell junction (GO:0005911)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|endoplasmic reticulum (GO:0005783)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)										CTGCAGTACACGGCCTATGGG	0.532																																						ENST00000519204.1																			0											c.(6811-6813)aCg>aTg		teneurin transmembrane protein 2							163	163	163					5																	167675119		2001	4174	6175	SO:0001583	missense	57451							g.chr5:167675119C>T	AB032953		5q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000145934	ENSG00000145934			29943	protein-coding gene	gene with protein product		610119	"odz, odd Oz/ten-m homolog 2 (Drosophila)"	ODZ2		10625539	Standard	NM_001122679		Approved	KIAA1127, Ten-M2	uc010jjd.3	Q9NT68	OTTHUMG00000162928	ENST00000518659.1:c.7175C>T	5.37:g.167675119C>T	ENSP00000429430:p.Thr2392Met					TENM2_ENST00000518659.1_Missense_Mutation_p.T2392M|TENM2_ENST00000403607.2_Missense_Mutation_p.T2216M|TENM2_ENST00000520394.1_Missense_Mutation_p.T2153M|TENM2_ENST00000545108.1_Missense_Mutation_p.T2391M	p.T2271M							26	6930	+								Q9ULU2	Missense_Mutation	SNP	ENST00000518659.1	37	c.6812C>T		.	.	.	.	.	.	.	.	.	.	C	18.59	3.656207	0.67586	.	.	ENSG00000145934	ENST00000518659;ENST00000545108;ENST00000519204;ENST00000520394;ENST00000403607	D;D;D;D;D	0.90563	-2.22;-2.21;-2.32;-2.66;-2.69	4.62	4.62	0.57501	Rhs repeat-associated core (1);	0.000000	0.85682	D	0.000000	D	0.96300	0.8793	M	0.91300	3.195	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.999	D;D;P	0.76071	0.987;0.97;0.855	D	0.97151	0.9831	10	0.87932	D	0	.	17.997	0.89187	0.0:1.0:0.0:0.0	.	2391;2392;2153	F5H2D1;Q9NT68;F8VNQ3	.;TEN2_HUMAN;.	M	2392;2391;2271;2153;2216	ENSP00000429430:T2392M;ENSP00000438635:T2391M;ENSP00000428964:T2271M;ENSP00000427874:T2153M;ENSP00000384905:T2216M	ENSP00000384905:T2216M	T	+	2	0	ODZ2	167607697	1.000000	0.71417	0.978000	0.43139	0.992000	0.81027	7.609000	0.82925	2.556000	0.86216	0.561000	0.74099	ACG		0.532	TENM2-001	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000376096.1	NM_001122679		4	203	0	0	0	1	0	4	203					T	167675119	C	T	167675119	3	4	315	1	0	0	0	0	1	0	0	0	10835	536	19	1	7254	1	ODZ2	5	167675119	Missense_Mutation	SNP	C	TCGA-KK-A6E4-01A-11D-A30E-08	13404133	167675119	13240141	13	16182											
CCND3	896	broad.mit.edu	37	chr6	41908118	41908118	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acacacgcacccgcaactggCggggagagacagcgtggtcg	10	3	15	13	5	0	1	0	0	0	1	1	3	0	2	1	4	2	2	1	4	1	0			TCGA-KK-A6E4-01A-11D-A30E-08	TCGA-KK-A6E4-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40596942-42c7-4514-8bf8-a5290015cfd8	03842b93-be03-4e34-a1c4-c29aa2f3a1ec	g.chr6:41908118C>A	ENST00000372991.4	-	2	602	c.404G>T	c.(403-405)cGc>cTc	p.R135L	CCND3_ENST00000510503.1_Missense_Mutation_p.R54L|CCND3_ENST00000511642.1_Missense_Mutation_p.R54L|CCND3_ENST00000511686.1_Intron|CCND3_ENST00000372987.4_Missense_Mutation_p.R85L|CCND3_ENST00000414200.2_Intron|CCND3_ENST00000372988.4_Missense_Mutation_p.R54L|CCND3_ENST00000415497.2_Intron	NM_001760.3	NP_001751.1	P30281	CCND3_HUMAN	cyclin D3	135	Cyclin N-terminal.				cell cycle (GO:0007049)|cell division (GO:0051301)|positive regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045737)|positive regulation of protein phosphorylation (GO:0001934)|signal transduction (GO:0007165)|T cell proliferation (GO:0042098)	cyclin-dependent protein kinase holoenzyme complex (GO:0000307)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase binding (GO:0019901)			endometrium(2)|haematopoietic_and_lymphoid_tissue(13)|kidney(1)|large_intestine(1)|lung(2)|skin(1)	20	Colorectal(47;0.121)		Epithelial(12;0.000178)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			CCGCAACTGGCGGGGAGAGAC	0.597			T	IGH@	MM																																	ENST00000511642.1				Dom	yes		6	6p21	896	T	cyclin D3			L	IGH@		MM		0				endometrium(2)|haematopoietic_and_lymphoid_tissue(13)|kidney(1)|large_intestine(1)|lung(2)|skin(1)	20						c.(160-162)cGc>cTc		cyclin D3							73	76	75					6																	41908118		2203	4300	6503	SO:0001583	missense	896				cell division|positive regulation of cyclin-dependent protein kinase activity|positive regulation of protein phosphorylation	cyclin-dependent protein kinase holoenzyme complex|cytoplasm|membrane|nucleus	protein kinase binding	g.chr6:41908118C>A		CCDS4863.1, CCDS47425.1, CCDS47426.1, CCDS47427.1, CCDS75452.1	6p21	2008-08-26			ENSG00000112576	ENSG00000112576			1585	protein-coding gene	gene with protein product		123834				1386335	Standard	NM_001136125		Approved		uc003orn.3	P30281	OTTHUMG00000014690	ENST00000372991.4:c.404G>T	6.37:g.41908118C>A	ENSP00000362082:p.Arg135Leu					CCND3_ENST00000415497.2_Intron|CCND3_ENST00000372987.4_Missense_Mutation_p.R85L|CCND3_ENST00000510503.1_Missense_Mutation_p.R54L|CCND3_ENST00000511686.1_Intron|CCND3_ENST00000414200.2_Intron|CCND3_ENST00000372988.4_Missense_Mutation_p.R54L|CCND3_ENST00000372991.4_Missense_Mutation_p.R135L	p.R54L			P30281	CCND3_HUMAN	Epithelial(12;0.000178)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)		2	912	-	Colorectal(47;0.121)		135			Cyclin N-terminal.		B2RD63|B3KQ22|E9PAS4|E9PB36|Q5T8J0|Q6FG62|Q96F49	Missense_Mutation	SNP	ENST00000372991.4	37	c.161G>T	CCDS4863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	14.28|14.28	2.487102|2.487102	0.44249|0.44249	.|.	.|.	ENSG00000112576|ENSG00000112576	ENST00000512426|ENST00000372991;ENST00000511642;ENST00000372987;ENST00000372988;ENST00000510503;ENST00000505064	.|T;T;T;T;T;T	.|0.11821	.|2.74;2.74;2.74;2.74;2.74;2.74	4.78|4.78	2.67|2.67	0.31697|0.31697	.|Cyclin, N-terminal (1);Cyclin-like (3);	.|0.782498	.|0.11476	.|N	.|0.560215	T|T	0.03827|0.03827	0.0108|0.0108	L|L	0.35854|0.35854	1.095|1.095	0.27793|0.27793	N|N	0.942764|0.942764	.|B;B;B	.|0.06786	.|0.0;0.0;0.001	.|B;B;B	.|0.12837	.|0.002;0.001;0.008	T|T	0.36890|0.36890	-0.9729|-0.9729	5|10	.|0.52906	.|T	.|0.07	.|.	6.2044|6.2044	0.20593|0.20593	0.0:0.5841:0.0:0.4159|0.0:0.5841:0.0:0.4159	.|.	.|54;135;85	.|B4E0N5;P30281;Q5T8J1	.|.;CCND3_HUMAN;.	S|L	70|135;54;85;54;54;54	.|ENSP00000362082:R135L;ENSP00000426212:R54L;ENSP00000362078:R85L;ENSP00000362079:R54L;ENSP00000425986:R54L;ENSP00000425830:R54L	.|ENSP00000362078:R85L	A|R	-|-	1|2	0|0	CCND3|CCND3	42016096|42016096	0.000000|0.000000	0.05858|0.05858	1.000000|1.000000	0.80357|0.80357	0.980000|0.980000	0.70556|0.70556	0.374000|0.374000	0.20501|0.20501	1.007000|1.007000	0.39238|0.39238	0.462000|0.462000	0.41574|0.41574	GCC|CGC		0.597	CCND3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040540.2	NM_001760		52	68	1	0	4.32865e-36	1	4.94703e-36	52	68					A	41908118	C	A	41908118	3	1	315	1	0	0	0	0	1	0	0	0	2918	768	27	5	490	5	CCND3	6	41908118	Missense_Mutation	SNP	C	TCGA-KK-A6E4-01A-11D-A30E-08		41908118	129206949	14	16183											
TRERF1	55809	broad.mit.edu	37	chr6	42204105	42204106	+	In_Frame_Ins	INS	-	-	TCC																															atttcctatcttcttccgggINStcctcctcctcctcctcctc																								rs146190272|rs373986015|rs111816381	byFrequency	TCGA-KK-A6E4-01A-11D-A30E-08	TCGA-KK-A6E4-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40596942-42c7-4514-8bf8-a5290015cfd8	03842b93-be03-4e34-a1c4-c29aa2f3a1ec	g.chr6:42204105_42204106insTCC	ENST00000372922.4	-	16	3465_3466	c.2903_2904insGGA	c.(2902-2904)gac>gaGGAc	p.967_968insE	TRERF1_ENST00000340840.2_In_Frame_Ins_p.884_885insE|TRERF1_ENST00000541110.1_In_Frame_Ins_p.987_988insE|TRERF1_ENST00000372917.4_In_Frame_Ins_p.884_885insE|TRERF1_ENST00000354325.2_In_Frame_Ins_p.884_885insE	NM_033502.2	NP_277037.1	Q96PN7	TREF1_HUMAN	transcriptional regulating factor 1	967	Glu-rich.|Interacts with CREBBP.				cholesterol catabolic process (GO:0006707)|homeostatic process (GO:0042592)|multicellular organismal development (GO:0007275)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of hormone biosynthetic process (GO:0046885)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|steroid biosynthetic process (GO:0006694)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding, bending (GO:0008301)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|metal ion binding (GO:0046872)|RNA polymerase II transcription cofactor activity (GO:0001104)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			breast(1)|central_nervous_system(2)|endometrium(7)|kidney(1)|large_intestine(12)|lung(13)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(2)	45	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			CTTCTTCCGGGtcctcctcctc	0.53														199	0.0397364	0.1392	0.0187	5008	,	,		18590	0		0	False		,,,				2504	0.002					ENST00000541110.1																			0				breast(1)|central_nervous_system(2)|endometrium(7)|kidney(1)|large_intestine(12)|lung(13)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(2)	45						c.(2962-2964)gcc>gGGAcc		transcriptional regulating factor 1																																				SO:0001652	inframe_insertion	55809				cholesterol catabolic process|homeostatic process|multicellular organismal development|positive regulation of transcription, DNA-dependent|regulation of hormone biosynthetic process|steroid biosynthetic process	nucleus	DNA bending activity|ligand-dependent nuclear receptor transcription coactivator activity|RNA polymerase II transcription cofactor activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding	g.chr6:42204105_42204106insTCC	AF297872	CCDS4867.1, CCDS75455.1	6p21.1-p12.1	2012-09-25			ENSG00000124496	ENSG00000124496			18273	protein-coding gene	gene with protein product		610322	"breast cancer anti-estrogen resistance 2"	BCAR2		11349124	Standard	XM_005249223		Approved	TReP-132, HSA277276, RAPA, dJ139D8.5	uc003osd.2	Q96PN7	OTTHUMG00000014698	ENST00000372922.4:c.2901_2903dupGGA	6.37:g.42204112_42204114dupTCC	ENSP00000362013:p.Glu967_Glu967dup					TRERF1_ENST00000372917.4_In_Frame_Ins_p.885_885A>GT|TRERF1_ENST00000354325.2_In_Frame_Ins_p.885_885A>GT|TRERF1_ENST00000372922.4_In_Frame_Ins_p.968_968A>GT|TRERF1_ENST00000340840.2_In_Frame_Ins_p.885_885A>GT	p.988_988A>GT			Q96PN7	TREF1_HUMAN	Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)		16	3531_3532	-	Colorectal(47;0.196)		968			Interacts with CREBBP.		Q05GC6|Q7Z6T2|Q7Z6T3|Q9NQ72|Q9NQ73|Q9NUN9	In_Frame_Ins	INS	ENST00000372922.4	37	c.2963_2964insGGA	CCDS4867.1																																																																																				0.53	TRERF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040551.2	NM_033502		4	4						4	4	---	---	---	---	TCC	42204106	-	TCC	42204105	7	5	315	1	0	1	1	0	0	0	0	0	16472	1252	44	0	710	0	TRERF1	6	42204105	In_Frame_Ins	INS	-	TCGA-KK-A6E4-01A-11D-A30E-08	295987	42204105	128910962	15	16184											
EYS	346007	broad.mit.edu	37	chr6	66205285	66205285	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaccatcaggctcagaatgaCgattgatttgtcagtcattt	12	13	8	8	1	4	3	4	2	0	1	4	4	4	3	1	1	1	1	1	1	2	3	rs377622148		TCGA-KK-A6E4-01A-11D-A30E-08	TCGA-KK-A6E4-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40596942-42c7-4514-8bf8-a5290015cfd8	03842b93-be03-4e34-a1c4-c29aa2f3a1ec	g.chr6:66205285C>T	ENST00000370621.3	-	4	545	c.19G>A	c.(19-21)Gtc>Atc	p.V7I	EYS_ENST00000370618.3_Missense_Mutation_p.V7I|EYS_ENST00000342421.5_Missense_Mutation_p.V7I|EYS_ENST00000370616.2_Missense_Mutation_p.V7I|EYS_ENST00000503581.1_Missense_Mutation_p.V7I|EYS_ENST00000393380.2_Missense_Mutation_p.V7I			Q5T1H1	EYS_HUMAN	eyes shut homolog (Drosophila)	7					detection of light stimulus involved in visual perception (GO:0050908)|skeletal muscle tissue regeneration (GO:0043403)	extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						CTCAGAATGACGATTGATTTG	0.368																																						ENST00000503581.1																			0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						c.(19-21)Gtc>Atc		eyes shut homolog (Drosophila)		T	ILE/VAL,ILE/VAL,ILE/VAL	0,4406		0,0,2203	62	60	61		19,19,19	0.5	0	6		61	1,8599	817.6+/-406.9	0,1,4299	no	missense,missense,missense	EYS	NM_198283.1,NM_001142801.1,NM_001142800.1	29,29,29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign,benign,benign	7/595,7/620,7/3145	66205285	1,13005	2203	4300	6503	SO:0001583	missense	346007				response to stimulus|visual perception	extracellular region	calcium ion binding	g.chr6:66205285C>T		CCDS4967.1, CCDS47445.1, CCDS47446.1	6q12	2014-01-28	2008-10-20	2008-10-20	ENSG00000188107	ENSG00000188107			21555	protein-coding gene	gene with protein product		612424	"chromosome 6 open reading frame 180", "EGF-like-domain, multiple 11", "retinitis pigmentosa 25 (autosomal recessive)", "EGF-like-domain, multiple 10", "chromosome 6 open reading frame 178", "chromosome 6 open reading frame 179"	C6orf180, EGFL11, RP25, EGFL10, C6orf178, C6orf179		18836446, 18976725	Standard	NM_001142800		Approved	dJ1018A4.2, bA166P24.2, SPAM, bA307F22.3, dJ303F19.1, bA74E24.1	uc011dxu.1	Q5T1H1	OTTHUMG00000014971	ENST00000370621.3:c.19G>A	6.37:g.66205285C>T	ENSP00000359655:p.Val7Ile					EYS_ENST00000370618.3_Missense_Mutation_p.V7I|EYS_ENST00000342421.5_Missense_Mutation_p.V7I|EYS_ENST00000370621.3_Missense_Mutation_p.V7I|EYS_ENST00000393380.2_Missense_Mutation_p.V7I|EYS_ENST00000370616.2_Missense_Mutation_p.V7I	p.V7I	NM_001142800.1	NP_001136272.1	Q5T1H1	EYS_HUMAN			4	556	-			7					A2RUR2|A8MVE7|B7TYK8|B7UUQ3|B7ZBE7|B7ZBE8|B7ZBR3|B9ZVD2|Q5SZM4|Q5T3C8|Q5T669|Q5TEL3|Q5TEL4|Q5VVG4|Q6UY05|Q9H557|Q9NQ15	Missense_Mutation	SNP	ENST00000370621.3	37	c.19G>A		.	.	.	.	.	.	.	.	.	.	T	0.403	-0.917481	0.02396	0.0	1.16E-4	ENSG00000188107	ENST00000503581;ENST00000370621;ENST00000370616;ENST00000393380;ENST00000342421;ENST00000370618	D;D;D;D;D;D	0.89810	-1.59;-1.57;-1.57;-2.57;-2.52;-2.52	4.48	0.519	0.17035	.	.	.	.	.	T	0.45856	0.1363	N	0.08118	0	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.0;0.0	T	0.45687	-0.9244	9	0.05721	T	0.95	.	3.4454	0.07478	0.1922:0.3504:0.0:0.4574	.	7;7;7	Q5T1H1-1;Q5T1H1-2;Q5SZM4	.;.;.	I	7	ENSP00000424243:V7I;ENSP00000359655:V7I;ENSP00000359650:V7I;ENSP00000377042:V7I;ENSP00000341818:V7I;ENSP00000359652:V7I	ENSP00000341818:V7I	V	-	1	0	EYS	66262006	0.000000	0.05858	0.000000	0.03702	0.217000	0.24651	-0.199000	0.09491	-0.412000	0.07519	-1.496000	0.00964	GTC		0.368	EYS-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000351351.3	XM_294050		14	39	0	0	0	1	0	14	39					T	66205285	C	T	66205285	3	4	315	1	0	0	0	0	1	0	0	0	5332	536	19	1	9537	1	EYS	6	66205285	Missense_Mutation	SNP	C	TCGA-KK-A6E4-01A-11D-A30E-08	24001180	66205285	104909782	16	16185											
SYNCRIP	10492	broad.mit.edu	37	chr6	86329033	86329033	+	Nonsense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atgaatgaacgcataatcttTtaacttcttcactcgttcca	12	15	4	10	2	3	2	1	2	2	0	5	2	4	2	1	0	2	2	1	0	4	6			TCGA-KK-A6E4-01A-11D-A30E-08	TCGA-KK-A6E4-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40596942-42c7-4514-8bf8-a5290015cfd8	03842b93-be03-4e34-a1c4-c29aa2f3a1ec	g.chr6:86329033T>A	ENST00000369622.3	-	9	1611	c.1111A>T	c.(1111-1113)Aaa>Taa	p.K371*	SYNCRIP_ENST00000355238.6_Nonsense_Mutation_p.K371*	NM_001159675.1|NM_006372.4	NP_001153147.1|NP_006363.4	O60506	HNRPQ_HUMAN	synaptotagmin binding, cytoplasmic RNA interacting protein	371	RRM 3. {ECO:0000255|PROSITE- ProRule:PRU00176}.				cellular response to interferon-gamma (GO:0071346)|CRD-mediated mRNA stabilization (GO:0070934)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of translation (GO:0017148)|osteoblast differentiation (GO:0001649)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|viral process (GO:0016032)	catalytic step 2 spliceosome (GO:0071013)|CRD-mediated mRNA stability complex (GO:0070937)|endoplasmic reticulum (GO:0005783)|GAIT complex (GO:0097452)|histone pre-mRNA 3'end processing complex (GO:0071204)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	33		all_cancers(76;0.000137)|Acute lymphoblastic leukemia(125;3.66e-08)|Prostate(29;8.2e-07)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0297)		BRCA - Breast invasive adenocarcinoma(108;0.0389)		GCATAATCTTTTAACTTCTTC	0.363																																						ENST00000355238.6																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	33						c.(1111-1113)Aaa>Taa		synaptotagmin binding, cytoplasmic RNA interacting protein							142	134	136					6																	86329033		2203	4300	6503	SO:0001587	stop_gained	10492				CRD-mediated mRNA stabilization|interspecies interaction between organisms	catalytic step 2 spliceosome|CRD-mediated mRNA stability complex|endoplasmic reticulum|histone pre-mRNA 3'end processing complex|microsome|nucleoplasm	nucleotide binding|protein binding	g.chr6:86329033T>A	AF037448	CCDS5005.1, CCDS55041.1, CCDS75491.1	6q14-q15	2013-05-23			ENSG00000135316	ENSG00000135316		"RNA binding motif (RRM) containing"	16918	protein-coding gene	gene with protein product	"heterogeneous nuclear ribonucleoprotein Q"					9847309, 11352648	Standard	NM_006372		Approved	NSAP1, GRY-RBP, dJ3J17.2, HNRPQ1, hnRNP-Q, HNRNPQ	uc003pla.2	O60506	OTTHUMG00000015141	ENST00000369622.3:c.1111A>T	6.37:g.86329033T>A	ENSP00000358635:p.Lys371*					SYNCRIP_ENST00000369622.3_Nonsense_Mutation_p.K371*	p.K371*	NM_001159673.1|NM_001159674.1|NM_001159676.1|NM_001159677.1|NM_001253771.1	NP_001153145.1|NP_001153146.1|NP_001153148.1|NP_001153149.1|NP_001240700.1	O60506	HNRPQ_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0389)	9	1317	-		all_cancers(76;0.000137)|Acute lymphoblastic leukemia(125;3.66e-08)|Prostate(29;8.2e-07)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0297)	371			RRM 3.		E1P501|E1P502|Q53H05|Q5TCG2|Q5TCG3|Q8IW78|Q8N599|Q96LC1|Q96LC2|Q9Y583	Nonsense_Mutation	SNP	ENST00000369622.3	37	c.1111A>T	CCDS5005.1	.	.	.	.	.	.	.	.	.	.	T	38	7.276892	0.98182	.	.	ENSG00000135316	ENST00000355238;ENST00000369622	.	.	.	5.19	5.19	0.71726	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.3453	0.74330	0.0:0.0:0.0:1.0	.	.	.	.	X	371	.	ENSP00000347380:K371X	K	-	1	0	SYNCRIP	86385752	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.996000	0.88334	2.084000	0.62774	0.533000	0.62120	AAA		0.363	SYNCRIP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041396.1	NM_006372		5	97	0	0	0	1	0	5	97					A	86329033	T	A	86329033	4	1	315	1	0	0	0	0	0	1	0	0	15441	1850	64	5	818	5	SYNCRIP	6	86329033	Nonsense_Mutation	SNP	T	TCGA-KK-A6E4-01A-11D-A30E-08	20123748	86329033	84786034	17	16186											
C6orf165	154313	broad.mit.edu	37	chr6	88173768	88173768	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gccagaaagttactcactcaGtacaaactgatcttagtcac	14	10	6	11	0	4	2	3	1	1	1	4	2	4	2	1	0	3	2	1	0	5	3			TCGA-KK-A6E4-01A-11D-A30E-08	TCGA-KK-A6E4-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40596942-42c7-4514-8bf8-a5290015cfd8	03842b93-be03-4e34-a1c4-c29aa2f3a1ec	g.chr6:88173768G>A	ENST00000507897.1	+	13	1752	c.1669G>A	c.(1669-1671)Gta>Ata	p.V557I	C6orf165_ENST00000506888.1_3'UTR|C6ORF165_ENST00000369562.4_Missense_Mutation_p.V557I			Q8IYR0	CF165_HUMAN	chromosome 6 open reading frame 165	557										NS(1)|central_nervous_system(1)|large_intestine(5)|lung(8)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575)		BRCA - Breast invasive adenocarcinoma(108;0.0419)		TACTCACTCAGTACAAACTGA	0.388																																						ENST00000507897.1																			0				NS(1)|central_nervous_system(1)|large_intestine(5)|lung(8)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(1669-1671)Gta>Ata		chromosome 6 open reading frame 165							46	46	46					6																	88173768		2203	4300	6503	SO:0001583	missense	154313							g.chr6:88173768G>A	BC035083	CCDS34498.1	6q15	2012-02-07			ENSG00000213204	ENSG00000213204			21405	protein-coding gene	gene with protein product							Standard	NM_001031743		Approved	FLJ25974, dJ382I10.1	uc003plv.3	Q8IYR0	OTTHUMG00000015173	ENST00000507897.1:c.1669G>A	6.37:g.88173768G>A	ENSP00000426769:p.Val557Ile					C6ORF165_ENST00000369562.4_Missense_Mutation_p.V557I|C6orf165_ENST00000506888.1_3'UTR	p.V557I			Q8IYR0	CF165_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0419)	13	1752	+		all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575)	557					A8K969|E1P507|Q8N9U4	Missense_Mutation	SNP	ENST00000507897.1	37	c.1669G>A	CCDS34498.1	.	.	.	.	.	.	.	.	.	.	G	8.784	0.928938	0.18131	.	.	ENSG00000213204	ENST00000369562	T	0.32272	1.46	5.68	4.81	0.61882	.	0.666563	0.15887	N	0.239776	T	0.15132	0.0365	M	0.72894	2.215	0.28125	N	0.93046	B	0.34181	0.44	B	0.27500	0.08	T	0.11108	-1.0601	10	0.51188	T	0.08	.	9.1534	0.36978	0.2067:0.0:0.7933:0.0	.	557	Q8IYR0	CF165_HUMAN	I	557	ENSP00000358575:V557I	ENSP00000358575:V557I	V	+	1	0	C6orf165	88230487	0.989000	0.36119	0.614000	0.29051	0.068000	0.16541	2.168000	0.42424	1.404000	0.46819	0.563000	0.77884	GTA		0.388	C6orf165-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	nonsense_mediated_decay	protein_coding	OTTHUMT00000470406.1	NM_178823		23	34	0	0	0	1	0	23	34					A	88173768	G	A	88173768	3	1	315	1	0	0	0	0	1	0	0	0	2341	1029	36	3	1715	3	C6orf165	6	88173768	Missense_Mutation	SNP	G	TCGA-KK-A6E4-01A-11D-A30E-08	1844735	88173768	82941299	18	16187											
TBP	6908	broad.mit.edu	37	chr6	170871043	170871043	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagcagcagcagcagcaacaGcaacagcagcagcagcagca	16	0	11	14	0	0	0	0	0	0	0	0	0	0	0	0	0	13	11	0	0	2	0			TCGA-KK-A6E4-01A-11D-A30E-08	TCGA-KK-A6E4-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40596942-42c7-4514-8bf8-a5290015cfd8	03842b93-be03-4e34-a1c4-c29aa2f3a1ec	g.chr6:170871043G>A	ENST00000392092.2	+	3	498	c.219G>A	c.(217-219)caG>caA	p.Q73Q	TBP_ENST00000230354.6_Silent_p.Q73Q|TBP_ENST00000540980.1_Silent_p.Q53Q	NM_003194.4	NP_003185.1	P20226	TBP_HUMAN	TATA box binding protein	73	Poly-Gln.				cell death (GO:0008219)|gene expression (GO:0010467)|positive regulation of transcription, DNA-templated (GO:0045893)|spermatogenesis (GO:0007283)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription from RNA polymerase III promoter (GO:0006383)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	cytoplasm (GO:0005737)|female pronucleus (GO:0001939)|male pronucleus (GO:0001940)|nuclear euchromatin (GO:0005719)|nucleoplasm (GO:0005654)|transcription factor TFIIA complex (GO:0005672)|transcription factor TFIID complex (GO:0005669)	repressing transcription factor binding (GO:0070491)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)	p.Q73Q(1)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1)	26		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591)		agcagcaacagcaacagcagc	0.562																																						ENST00000392092.2																			1	Substitution - coding silent(1)	p.Q73Q(1)	endometrium(1)	breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1)	26						c.(217-219)caG>caA		TATA box binding protein							17	21	20					6																	170871043		1987	3877	5864	SO:0001819	synonymous_variant	6908				cell death|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription from RNA polymerase III promoter|viral reproduction	transcription factor TFIIA complex|transcription factor TFIID complex	repressing transcription factor binding|transcription regulatory region DNA binding	g.chr6:170871043G>A	M55654	CCDS5315.1, CCDS55077.1	6q27	2014-04-02			ENSG00000112592	ENSG00000112592		"General transcription factors"	11588	protein-coding gene	gene with protein product		600075		GTF2D1, SCA17		2194289, 11448935	Standard	NM_003194		Approved	TFIID	uc003qxu.3	P20226	OTTHUMG00000016084	ENST00000392092.2:c.219G>A	6.37:g.170871043G>A						TBP_ENST00000540980.1_Silent_p.Q53Q|TBP_ENST00000230354.6_Silent_p.Q73Q	p.Q73Q	NM_003194.4	NP_003185.1	P20226	TBP_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591)	3	498	+		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)	73			Poly-Gln.		B4E3B3|F5H869|Q16845|Q6IBM6|Q9UC02	Silent	SNP	ENST00000392092.2	37	c.219G>A	CCDS5315.1																																																																																				0.562	TBP-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043271.2	NM_003194		5	62	0	0	0	1	0	5	62					A	170871043	G	A	170871043	2	1	315	1	0	0	0	0	0	0	0	1	15641	962	34	3		3	TBP	6	170871043	Silent	SNP	G	TCGA-KK-A6E4-01A-11D-A30E-08	82697275	170871043	244024	19	16188											
MICALL2	79778	broad.mit.edu	37	chr7	1484421	1484421	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgccagaaaggctggtgcCggggggcactgctgatgttt	6	10	16	9	1	1	2	0	1	1	1	1	2	1	2	2	5	3	4	2	5	1	1			TCGA-KK-A6E4-01A-11D-A30E-08	TCGA-KK-A6E4-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40596942-42c7-4514-8bf8-a5290015cfd8	03842b93-be03-4e34-a1c4-c29aa2f3a1ec	g.chr7:1484421C>T	ENST00000297508.7	-	6	1460	c.1285G>A	c.(1285-1287)Ggc>Agc	p.G429S	MICALL2_ENST00000405088.4_Missense_Mutation_p.G217S	NM_182924.3	NP_891554.1	Q8IY33	MILK2_HUMAN	MICAL-like 2	429	Mediates targeting to the cell plasma membrane. {ECO:0000250}.				actin cytoskeleton reorganization (GO:0031532)|actin filament polymerization (GO:0030041)|endocytic recycling (GO:0032456)|neuron projection development (GO:0031175)|substrate adhesion-dependent cell spreading (GO:0034446)|tight junction assembly (GO:0070830)	cell-cell junction (GO:0005911)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)|stress fiber (GO:0001725)|tight junction (GO:0005923)	actin filament binding (GO:0051015)|filamin binding (GO:0031005)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|lung(8)|ovary(2)|skin(2)	19		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;6.01e-15)		AGGCTGGTGCCGGGGGGCACT	0.632																																						ENST00000297508.7																			0				breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|lung(8)|ovary(2)|skin(2)	19						c.(1285-1287)Ggc>Agc		MICAL-like 2							10	5	6					7																	1484421		2107	4104	6211	SO:0001583	missense	79778					cytoplasm|cytoskeleton	zinc ion binding	g.chr7:1484421C>T	BC037988	CCDS5324.1	7p22.3	2006-11-24			ENSG00000164877	ENSG00000164877			29672	protein-coding gene	gene with protein product	"junctional Rab13-binding protein"					12110185, 16525024	Standard	NM_182924		Approved	MGC46023, FLJ23471, MICAL-L2, JRAB	uc003skj.4	Q8IY33	OTTHUMG00000119021	ENST00000297508.7:c.1285G>A	7.37:g.1484421C>T	ENSP00000297508:p.Gly429Ser					MICALL2_ENST00000405088.4_Missense_Mutation_p.G217S	p.G429S	NM_182924.3	NP_891554.1	Q8IY33	MILK2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;6.01e-15)	6	1460	-		Ovarian(82;0.0253)	429					D3YTD2|Q7RTP4|Q7Z655|Q8TEQ4|Q9H5F9	Missense_Mutation	SNP	ENST00000297508.7	37	c.1285G>A	CCDS5324.1	.	.	.	.	.	.	.	.	.	.	c	7.773	0.707937	0.15239	.	.	ENSG00000164877	ENST00000405088;ENST00000297508	T;T	0.68331	2.54;-0.32	4.15	-8.31	0.01001	.	1.898990	0.03009	N	0.149218	T	0.37571	0.1008	N	0.04880	-0.145	0.09310	N	1	B	0.17667	0.023	B	0.04013	0.001	T	0.28235	-1.0050	10	0.12766	T	0.61	.	8.1449	0.31106	0.1084:0.45:0.0:0.4416	.	429	Q8IY33	MILK2_HUMAN	S	217;429	ENSP00000385928:G217S;ENSP00000297508:G429S	ENSP00000297508:G429S	G	-	1	0	MICALL2	1450947	0.001000	0.12720	0.000000	0.03702	0.005000	0.04900	-0.518000	0.06267	-1.621000	0.01562	-1.982000	0.00454	GGC		0.632	MICALL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239223.2	NM_182924		5	58	0	0	0	1	0	5	58					T	1484421	C	T	1484421	3	4	315	1	0	0	0	0	1	0	0	0	9574	652	23	2	1477	2	MICALL2	7	1484421	Missense_Mutation	SNP	C	TCGA-KK-A6E4-01A-11D-A30E-08		1484421	157654242	20	16189											
C7orf10	79783	broad.mit.edu	37	chr7	40900013	40900013	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcctgaaggaggtcctgagaTacgatgacagggccatcggg	10	7	15	9	2	0	3	0	3	0	1	3	6	2	4	3	4	1	0	3	4	2	1			TCGA-KK-A6E4-01A-11D-A30E-08	TCGA-KK-A6E4-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40596942-42c7-4514-8bf8-a5290015cfd8	03842b93-be03-4e34-a1c4-c29aa2f3a1ec	g.chr7:40900013T>C	ENST00000335693.4	+	14	1296	c.1273T>C	c.(1273-1275)Tac>Cac	p.Y425H	C7orf10_ENST00000309930.5_Missense_Mutation_p.Y451H|C7orf10_ENST00000464028.1_3'UTR|C7orf10_ENST00000401647.2_Missense_Mutation_p.Y377H	NM_001193313.1	NP_001180242.1	Q9HAC7	SUCHY_HUMAN		425					metabolic process (GO:0008152)	mitochondrion (GO:0005739)	succinate-hydroxymethylglutarate CoA-transferase activity (GO:0047369)			endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)	18						GGTCCTGAGATACGATGACAG	0.572																																						ENST00000309930.5																			0				endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)	18						c.(1351-1353)Tac>Cac		chromosome 7 open reading frame 10							81	91	87					7																	40900013		2128	4220	6348	SO:0001583	missense	79783						transferase activity	g.chr7:40900013T>C																												ENST00000335693.4:c.1273T>C	7.37:g.40900013T>C	ENSP00000338475:p.Tyr425His					C7orf10_ENST00000401647.2_Missense_Mutation_p.Y377H|C7orf10_ENST00000464028.1_3'UTR|C7orf10_ENST00000335693.4_Missense_Mutation_p.Y425H	p.Y451H	NM_001193311.1|NM_024728.2	NP_001180240.1|NP_079004.1	Q9HAC7	CG010_HUMAN			15	1375	+			425					A4D1W5|B4DR73|Q4KMW4|Q4KMW8|Q4KMZ0|Q8TE00|Q8TEY1	Missense_Mutation	SNP	ENST00000335693.4	37	c.1351T>C	CCDS55105.1	.	.	.	.	.	.	.	.	.	.	T	15.30	2.792592	0.50102	.	.	ENSG00000175600	ENST00000309930;ENST00000401647;ENST00000335693	D;T;T	0.86865	-2.18;-0.51;-0.51	5.7	5.7	0.88788	CoA-transferase family III domain (1);	0.000000	0.85682	D	0.000000	D	0.93657	0.7974	M	0.84082	2.675	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.76071	0.962;0.962;0.987	D	0.94253	0.7495	10	0.62326	D	0.03	-7.6621	15.6243	0.76840	0.0:0.0:0.0:1.0	.	377;425;414	Q4KMW8;Q9HAC7;Q9HAC7-2	.;CG010_HUMAN;.	H	451;377;425	ENSP00000312054:Y451H;ENSP00000385222:Y377H;ENSP00000338475:Y425H	ENSP00000312054:Y451H	Y	+	1	0	C7orf10	40866538	1.000000	0.71417	0.747000	0.31113	0.003000	0.03518	5.275000	0.65575	2.165000	0.68154	0.533000	0.62120	TAC		0.572	C7orf10-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000338388.1			6	181	0	0	0	1	0	6	181					C	40900013	T	C	40900013	3	2	315	1	0	0	0	0	1	0	0	0	2376	1406	49	4	1298	4	C7orf10	7	40900013	Missense_Mutation	SNP	T	TCGA-KK-A6E4-01A-11D-A30E-08	39415592	40900013	118238650	21	16190											
GNAI1	2770	broad.mit.edu	37	chr7	79842101	79842101	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtggtttacagatacatccAttatactttttctaaacaag	14	15	5	7	0	1	1	0	0	1	1	2	1	2	1	1	1	4	1	1	1	7	8			TCGA-KK-A6E4-01A-11D-A30E-08	TCGA-KK-A6E4-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40596942-42c7-4514-8bf8-a5290015cfd8	03842b93-be03-4e34-a1c4-c29aa2f3a1ec	g.chr7:79842101A>G	ENST00000351004.3	+	7	1163	c.790A>G	c.(790-792)Att>Gtt	p.I264V	GNAI1_ENST00000457358.2_Missense_Mutation_p.I212V	NM_002069.5	NP_002060.4	P63096	GNAI1_HUMAN	guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 1	264					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|blood coagulation (GO:0007596)|cell cycle (GO:0007049)|cell division (GO:0051301)|G-protein coupled receptor signaling pathway (GO:0007186)|platelet activation (GO:0030168)|response to peptide hormone (GO:0043434)|synaptic transmission (GO:0007268)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|lysosomal membrane (GO:0005765)|midbody (GO:0030496)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	G-protein beta/gamma-subunit complex binding (GO:0031683)|G-protein coupled serotonin receptor binding (GO:0031821)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)			NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	19						AGATACATCCATTATACTTTT	0.323																																						ENST00000351004.3																			0				NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	19						c.(790-792)Att>Gtt		guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 1							72	76	75					7																	79842101		2203	4296	6499	SO:0001583	missense	2770				cell cycle|cell division|inhibition of adenylate cyclase activity by G-protein signaling pathway|platelet activation|synaptic transmission	centrosome|heterotrimeric G-protein complex|midbody|nucleus	G-protein beta/gamma-subunit complex binding|GTP binding|metabotropic serotonin receptor binding|signal transducer activity	g.chr7:79842101A>G	AL049933	CCDS5595.1, CCDS59061.1	7q21-q22	2008-07-18			ENSG00000127955	ENSG00000127955			4384	protein-coding gene	gene with protein product	"Gi1 protein alpha subunit"	139310				3110783	Standard	NM_002069		Approved		uc003uhb.1	P63096	OTTHUMG00000023523	ENST00000351004.3:c.790A>G	7.37:g.79842101A>G	ENSP00000343027:p.Ile264Val					GNAI1_ENST00000457358.2_Missense_Mutation_p.I212V	p.I264V	NM_002069.5	NP_002060.4	P63096	GNAI1_HUMAN			7	1163	+			264					A8KA88|B4E2V1|C9J3A4|P04898|P11015|P31871|Q5U074|Q8TAN5|Q9UGA4	Missense_Mutation	SNP	ENST00000351004.3	37	c.790A>G	CCDS5595.1	.	.	.	.	.	.	.	.	.	.	A	18.28	3.589566	0.66105	.	.	ENSG00000127955	ENST00000351004;ENST00000457358	D;D	0.90133	-2.62;-2.62	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	D	0.88276	0.6393	L	0.51422	1.61	0.80722	D	1	B	0.06786	0.001	B	0.17722	0.019	D	0.83484	0.0066	9	.	.	.	.	16.8222	0.85835	1.0:0.0:0.0:0.0	.	264	P63096	GNAI1_HUMAN	V	264;212	ENSP00000343027:I264V;ENSP00000410572:I212V	.	I	+	1	0	GNAI1	79680037	1.000000	0.71417	0.906000	0.35671	0.993000	0.82548	9.287000	0.95975	2.371000	0.80710	0.533000	0.62120	ATT		0.323	GNAI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253254.1	NM_002069		39	45	0	0	0	1	0	39	45					G	79842101	A	G	79842101	3	3	315	1	0	0	0	0	1	0	0	0	6504	217	8	4	816	4	GNAI1	7	79842101	Missense_Mutation	SNP	A	TCGA-KK-A6E4-01A-11D-A30E-08	38942088	79842101	79296562	22	16191											
ZNF804B	219578	broad.mit.edu	37	chr7	88964976	88964976	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggcccatgaagtgtaactccGggaatatcagctgccttcta	10	10	10	11	1	2	1	1	1	1	0	3	2	3	2	3	2	3	2	3	2	5	4	rs377052292		TCGA-KK-A6E4-01A-11D-A30E-08	TCGA-KK-A6E4-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40596942-42c7-4514-8bf8-a5290015cfd8	03842b93-be03-4e34-a1c4-c29aa2f3a1ec	g.chr7:88964976G>A	ENST00000333190.4	+	4	3289	c.2680G>A	c.(2680-2682)Ggg>Agg	p.G894R		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	894							metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			GTGTAACTCCGGGAATATCAG	0.438										HNSCC(36;0.09)																												ENST00000333190.4																			0				NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144						c.(2680-2682)Ggg>Agg		zinc finger protein 804B							67	71	69					7																	88964976		2203	4300	6503	SO:0001583	missense	219578					intracellular	zinc ion binding	g.chr7:88964976G>A	AK056672	CCDS5613.1	7q21.13	2012-10-05	2006-12-18		ENSG00000182348	ENSG00000182348			21958	protein-coding gene	gene with protein product			"zinc finger 804B"				Standard	NM_181646		Approved	FLJ32110	uc011khi.2	A4D1E1	OTTHUMG00000131037	ENST00000333190.4:c.2680G>A	7.37:g.88964976G>A	ENSP00000329638:p.Gly894Arg	HNSCC(36;0.09)					p.G894R	NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	STAD - Stomach adenocarcinoma(171;0.0513)		4	3289	+	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		894					B2RTV2|Q7Z714|Q96MN7	Missense_Mutation	SNP	ENST00000333190.4	37	c.2680G>A	CCDS5613.1	.	.	.	.	.	.	.	.	.	.	G	5.383	0.255842	0.10185	.	.	ENSG00000182348	ENST00000333190	T	0.04809	3.55	5.34	3.53	0.40419	.	0.690370	0.14415	N	0.321031	T	0.03305	0.0096	L	0.27053	0.805	0.09310	N	1	B	0.22541	0.071	B	0.12156	0.007	T	0.46624	-0.9178	10	0.10377	T	0.69	-0.9706	7.1563	0.25639	0.1612:0.2384:0.6005:0.0	.	894	A4D1E1	Z804B_HUMAN	R	894	ENSP00000329638:G894R	ENSP00000329638:G894R	G	+	1	0	ZNF804B	88802912	0.050000	0.20438	0.001000	0.08648	0.003000	0.03518	1.691000	0.37721	0.817000	0.34445	-0.119000	0.15052	GGG		0.438	ZNF804B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253683.2	NM_181646		39	71	0	0	0	1	0	39	71					A	88964976	G	A	88964976	3	1	315	1	0	0	0	0	1	0	0	0	18168	1116	39	2	2694	2	ZNF804B	7	88964976	Missense_Mutation	SNP	G	TCGA-KK-A6E4-01A-11D-A30E-08	9122875	88964976	70173687	23	16192											
EXTL3	2137	broad.mit.edu	37	chr8	28573785	28573785	+	Missense_Mutation	SNP	G	G	A																															gatttttggtccccgggtggGgaacgagctgtgcgaggtga																										TCGA-KK-A6E4-01A-11D-A30E-08	TCGA-KK-A6E4-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40596942-42c7-4514-8bf8-a5290015cfd8	03842b93-be03-4e34-a1c4-c29aa2f3a1ec	g.chr8:28573785G>A	ENST00000220562.4	+	3	1111	c.209G>A	c.(208-210)gGg>gAg	p.G70E	EXTL3_ENST00000523149.1_Intron|EXTL3_ENST00000519886.1_Intron	NM_001440.2	NP_001431.1	O43909	EXTL3_HUMAN	exostosin-like glycosyltransferase 3	70					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|positive regulation of cell growth (GO:0030307)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)	glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity (GO:0001888)|metal ion binding (GO:0046872)			biliary_tract(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(8)|ovary(1)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(1)	36		Ovarian(32;0.069)		KIRC - Kidney renal clear cell carcinoma(542;0.107)|Kidney(114;0.129)|Colorectal(74;0.228)		CCCCGGGTGGGGAACGAGCTG	0.597																																						ENST00000220562.4																			0				biliary_tract(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(8)|ovary(1)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(1)	36						c.(208-210)gGg>gAg		exostosin-like glycosyltransferase 3							115	107	110					8																	28573785		2203	4300	6503	SO:0001583	missense	2137					integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|metal ion binding|protein binding	g.chr8:28573785G>A	U76188	CCDS6070.1	8p22-p12	2013-03-01	2013-03-01		ENSG00000012232	ENSG00000012232	2.4.1.223	"Exostosin glycosyltransferase family"	3518	protein-coding gene	gene with protein product	"REG receptor", "glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase"	605744	"exostoses (multiple)-like 3"			9479495, 9450183, 11257457	Standard	NM_001440		Approved	botv, REGR	uc003xgz.2	O43909	OTTHUMG00000102146	ENST00000220562.4:c.209G>A	8.37:g.28573785G>A	ENSP00000220562:p.Gly70Glu					EXTL3_ENST00000523149.1_Intron|EXTL3_ENST00000519886.1_Intron	p.G70E	NM_001440.2	NP_001431.1	O43909	EXTL3_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.107)|Kidney(114;0.129)|Colorectal(74;0.228)	3	1111	+		Ovarian(32;0.069)	70					D3DST8|O00225|Q53XT3	Missense_Mutation	SNP	ENST00000220562.4	37	c.209G>A	CCDS6070.1	.	.	.	.	.	.	.	.	.	.	G	10.17	1.275724	0.23307	.	.	ENSG00000012232	ENST00000220562	D	0.95001	-3.58	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	D	0.90349	0.6980	N	0.25647	0.755	0.80722	D	1	B	0.09022	0.002	B	0.04013	0.001	D	0.85606	0.1255	9	.	.	.	-16.8872	19.4523	0.94872	0.0:0.0:1.0:0.0	.	70	O43909	EXTL3_HUMAN	E	70	ENSP00000220562:G70E	.	G	+	2	0	EXTL3	28629704	1.000000	0.71417	0.149000	0.22428	0.591000	0.36615	9.869000	0.99810	2.600000	0.87896	0.491000	0.48974	GGG		0.597	EXTL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219987.3	NM_001440		24	16	0	0	0	1	0	24	16					A	28573785	G	A	28573785	3	1	315	1	0	0	0	0	1	0	0	0	5327	1232	43	3	211	3	EXTL3	8	28573785	Missense_Mutation	SNP	G	TCGA-KK-A6E4-01A-11D-A30E-08		28573785	117790237	24	16193	80	2									
EXTL3	2137	broad.mit.edu	37	chr8	28573786	28573786	+	Silent	SNP	G	G	A																															atttttggtccccgggtgggGaacgagctgtgcgaggtgaa																										TCGA-KK-A6E4-01A-11D-A30E-08	TCGA-KK-A6E4-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40596942-42c7-4514-8bf8-a5290015cfd8	03842b93-be03-4e34-a1c4-c29aa2f3a1ec	g.chr8:28573786G>A	ENST00000220562.4	+	3	1112	c.210G>A	c.(208-210)ggG>ggA	p.G70G	EXTL3_ENST00000523149.1_Intron|EXTL3_ENST00000519886.1_Intron	NM_001440.2	NP_001431.1	O43909	EXTL3_HUMAN	exostosin-like glycosyltransferase 3	70					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|positive regulation of cell growth (GO:0030307)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)	glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity (GO:0001888)|metal ion binding (GO:0046872)			biliary_tract(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(8)|ovary(1)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(1)	36		Ovarian(32;0.069)		KIRC - Kidney renal clear cell carcinoma(542;0.107)|Kidney(114;0.129)|Colorectal(74;0.228)		CCCGGGTGGGGAACGAGCTGT	0.597																																						ENST00000220562.4																			0				biliary_tract(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(8)|ovary(1)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(1)	36						c.(208-210)ggG>ggA		exostosin-like glycosyltransferase 3							115	107	110					8																	28573786		2203	4300	6503	SO:0001819	synonymous_variant	2137					integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|metal ion binding|protein binding	g.chr8:28573786G>A	U76188	CCDS6070.1	8p22-p12	2013-03-01	2013-03-01		ENSG00000012232	ENSG00000012232	2.4.1.223	"Exostosin glycosyltransferase family"	3518	protein-coding gene	gene with protein product	"REG receptor", "glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase"	605744	"exostoses (multiple)-like 3"			9479495, 9450183, 11257457	Standard	NM_001440		Approved	botv, REGR	uc003xgz.2	O43909	OTTHUMG00000102146	ENST00000220562.4:c.210G>A	8.37:g.28573786G>A						EXTL3_ENST00000523149.1_Intron|EXTL3_ENST00000519886.1_Intron	p.G70G	NM_001440.2	NP_001431.1	O43909	EXTL3_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.107)|Kidney(114;0.129)|Colorectal(74;0.228)	3	1112	+		Ovarian(32;0.069)	70					D3DST8|O00225|Q53XT3	Silent	SNP	ENST00000220562.4	37	c.210G>A	CCDS6070.1																																																																																				0.597	EXTL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219987.3	NM_001440		24	16	0	0	0	1	0	24	16					A	28573786	G	A	28573786	2	1	315	1	0	0	0	0	0	0	0	1	5327	1161	41	3		3	EXTL3	8	28573786	Silent	SNP	G	TCGA-KK-A6E4-01A-11D-A30E-08	1	28573786	117790236	25	16194	80	2									
CSPP1	79848	broad.mit.edu	37	chr8	68105709	68105709	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctaactacaggatagcagtcGtcctaatgtagcaccagatg	13	9	9	10	1	0	1	0	0	0	1	2	2	1	2	2	1	4	3	2	1	5	5			TCGA-KK-A6E4-01A-11D-A30E-08	TCGA-KK-A6E4-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40596942-42c7-4514-8bf8-a5290015cfd8	03842b93-be03-4e34-a1c4-c29aa2f3a1ec	g.chr8:68105709G>A	ENST00000262210.5	+	28	3357	c.3326G>A	c.(3325-3327)cGt>cAt	p.R1109H	ARFGEF1_ENST00000520381.1_Intron|CSPP1_ENST00000412460.1_Missense_Mutation_p.R764H|CSPP1_ENST00000521168.1_Intron	NM_024790.6	NP_079066.5	Q1MSJ5	CSPP1_HUMAN	centrosome and spindle pole associated protein 1	1144					positive regulation of cell division (GO:0051781)|positive regulation of cytokinesis (GO:0032467)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|spindle (GO:0005819)|spindle pole (GO:0000922)				NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|prostate(3)|skin(1)|urinary_tract(1)	49	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.00145)|OV - Ovarian serous cystadenocarcinoma(28;0.00589)|all cancers(69;0.0069)|BRCA - Breast invasive adenocarcinoma(89;0.153)			GATAGCAGTCGTCCTAATGTA	0.403																																						ENST00000262210.5																			0				NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|prostate(3)|skin(1)|urinary_tract(1)	49						c.(3325-3327)cGt>cAt		centrosome and spindle pole associated protein 1							137	129	131					8																	68105709		1874	4109	5983	SO:0001583	missense	79848					centrosome|microtubule|spindle		g.chr8:68105709G>A	AJ583433	CCDS43744.1	8q13.2	2014-02-24			ENSG00000104218	ENSG00000104218			26193	protein-coding gene	gene with protein product		611654				15580290, 24360807	Standard	NM_024790		Approved	FLJ22490, CSPP, JBTS21	uc003xxj.3	Q1MSJ5	OTTHUMG00000164564	ENST00000262210.5:c.3326G>A	8.37:g.68105709G>A	ENSP00000262210:p.Arg1109His					CSPP1_ENST00000412460.1_Missense_Mutation_p.R764H|CSPP1_ENST00000521168.1_Intron|ARFGEF1_ENST00000520381.1_Intron	p.R1109H	NM_024790.6	NP_079066.5	Q1MSJ5	CSPP1_HUMAN	Epithelial(68;0.00145)|OV - Ovarian serous cystadenocarcinoma(28;0.00589)|all cancers(69;0.0069)|BRCA - Breast invasive adenocarcinoma(89;0.153)		28	3357	+	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	1144					A6ND63|Q70F00|Q8TBC1	Missense_Mutation	SNP	ENST00000262210.5	37	c.3326G>A	CCDS43744.1	.	.	.	.	.	.	.	.	.	.	G	11.36	1.615544	0.28801	.	.	ENSG00000104218	ENST00000262210;ENST00000389042;ENST00000412460;ENST00000519668	T;T;T	0.32515	1.45;1.46;1.46	5.73	-0.701	0.11269	.	1.560660	0.03412	N	0.204932	T	0.11024	0.0269	N	0.02802	-0.49	0.09310	N	0.999999	B;B;B	0.06786	0.001;0.001;0.0	B;B;B	0.04013	0.001;0.0;0.0	T	0.13629	-1.0502	10	0.17369	T	0.5	0.2468	0.2437	0.00196	0.3248:0.1421:0.2502:0.2829	.	764;1109;1144	Q1MSJ5-2;Q1MSJ5-1;Q1MSJ5	.;.;CSPP1_HUMAN	H	1109;1144;764;764	ENSP00000262210:R1109H;ENSP00000415782:R764H;ENSP00000430092:R764H	ENSP00000262210:R1109H	R	+	2	0	CSPP1	68268263	0.000000	0.05858	0.000000	0.03702	0.751000	0.42716	-0.218000	0.09240	-0.061000	0.13110	0.655000	0.94253	CGT		0.403	CSPP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379254.1	NM_024790		8	47	0	0	0	1	0	8	47					A	68105709	G	A	68105709	3	1	315	1	0	0	0	0	1	0	0	0	3962	1145	40	1	3549	1	CSPP1	8	68105709	Missense_Mutation	SNP	G	TCGA-KK-A6E4-01A-11D-A30E-08	39531923	68105709	78258313	26	16195											
RAD21	5885	broad.mit.edu	37	chr8	117868410	117868410	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggttcatatgcttaccagttAtatcaataggctccaatgca	12	13	7	9	0	2	0	2	0	0	0	3	0	3	0	2	2	3	5	2	2	7	6			TCGA-KK-A6E4-01A-11D-A30E-08	TCGA-KK-A6E4-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40596942-42c7-4514-8bf8-a5290015cfd8	03842b93-be03-4e34-a1c4-c29aa2f3a1ec	g.chr8:117868410A>T	ENST00000297338.2	-	8	1219	c.932T>A	c.(931-933)aTa>aAa	p.I311K	RAD21_ENST00000523547.1_5'Flank	NM_006265.2	NP_006256.1	O60216	RAD21_HUMAN	RAD21 homolog (S. pombe)	311	Interaction with WAPAL and PDS5B.				apoptotic process (GO:0006915)|chromosome segregation (GO:0007059)|DNA recombination (GO:0006310)|double-strand break repair (GO:0006302)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|protein localization to chromatin (GO:0071168)|reciprocal meiotic recombination (GO:0007131)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cohesin complex (GO:0008278)|cytosol (GO:0005829)|membrane (GO:0016020)|nuclear meiotic cohesin complex (GO:0034991)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(1)|stomach(1)	32	all_cancers(13;1.21e-21)|Lung NSC(37;0.000134)|Ovarian(258;0.0172)					CTTACCAGTTATATCAATAGG	0.388																																						ENST00000297338.2																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(1)|stomach(1)	32						c.(931-933)aTa>aAa		RAD21 homolog (S. pombe)							153	141	145					8																	117868410		2203	4300	6503	SO:0001583	missense	5885				apoptosis|cell division|chromosome segregation|double-strand break repair|mitotic metaphase/anaphase transition|mitotic prometaphase|protein localization to chromatin|reciprocal meiotic recombination|regulation of transcription from RNA polymerase II promoter	chromosome, centromeric region|cohesin complex|nuclear chromosome|nucleoplasm	protein binding	g.chr8:117868410A>T	BC050381	CCDS6321.1	8q24.11	2014-09-17	2001-11-28		ENSG00000164754	ENSG00000164754			9811	protein-coding gene	gene with protein product	"sister chromatid cohesion 1"	606462	"RAD21 (S. pombe) homolog"			8812457	Standard	NM_006265		Approved	KIAA0078, hHR21, SCC1	uc003yod.3	O60216	OTTHUMG00000164959	ENST00000297338.2:c.932T>A	8.37:g.117868410A>T	ENSP00000297338:p.Ile311Lys						p.I311K	NM_006265.2	NP_006256.1	O60216	RAD21_HUMAN			8	1219	-	all_cancers(13;1.21e-21)|Lung NSC(37;0.000134)|Ovarian(258;0.0172)		311			Interaction with WAPAL and PDS5B.		A8K0E0|Q15001|Q99568	Missense_Mutation	SNP	ENST00000297338.2	37	c.932T>A	CCDS6321.1	.	.	.	.	.	.	.	.	.	.	A	25.8	4.679666	0.88542	.	.	ENSG00000164754	ENST00000297338	T	0.62232	0.04	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	T	0.70124	0.3188	M	0.67953	2.075	0.80722	D	1	D	0.65815	0.995	P	0.57911	0.829	T	0.67917	-0.5546	10	0.06625	T	0.88	-4.3376	15.806	0.78513	1.0:0.0:0.0:0.0	.	311	O60216	RAD21_HUMAN	K	311	ENSP00000297338:I311K	ENSP00000297338:I311K	I	-	2	0	RAD21	117937591	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.327000	0.96396	2.135000	0.66039	0.528000	0.53228	ATA		0.388	RAD21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381184.1	NM_006265		45	73	0	0	0	1	0	45	73					T	117868410	A	T	117868410	3	4	315	1	0	0	0	0	1	0	0	0	12981	449	16	5	991	5	RAD21	8	117868410	Missense_Mutation	SNP	A	TCGA-KK-A6E4-01A-11D-A30E-08	49762701	117868410	28495612	27	16196											
SLC30A8	169026	broad.mit.edu	37	chr8	118169991	118169991	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gtgactggcgtgctagtgtaCctggcatgtgagcgcctgct	5	11	15	10	2	0	2	0	2	0	0	0	2	0	2	2	2	4	4	2	2	2	2			TCGA-KK-A6E4-01A-11D-A30E-08	TCGA-KK-A6E4-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40596942-42c7-4514-8bf8-a5290015cfd8	03842b93-be03-4e34-a1c4-c29aa2f3a1ec	g.chr8:118169991C>T	ENST00000456015.2	+	4	480	c.480C>T	c.(478-480)taC>taT	p.Y160Y	SLC30A8_ENST00000427715.2_Silent_p.Y111Y|SLC30A8_ENST00000521243.1_Silent_p.Y111Y|SLC30A8_ENST00000519688.1_Silent_p.Y111Y	NM_173851.2	NP_776250.2	Q8IWU4	ZNT8_HUMAN	solute carrier family 30 (zinc transporter), member 8	160					cellular zinc ion homeostasis (GO:0006882)|insulin secretion (GO:0030073)|positive regulation of insulin secretion (GO:0032024)|regulation of sequestering of zinc ion (GO:0061088)|regulation of vesicle-mediated transport (GO:0060627)|response to glucose (GO:0009749)|response to interferon-gamma (GO:0034341)|response to interleukin-1 (GO:0070555)|sequestering of zinc ion (GO:0032119)|transmembrane transport (GO:0055085)|zinc ion transmembrane transport (GO:0071577)|zinc ion transport (GO:0006829)	cytoplasmic membrane-bounded vesicle (GO:0016023)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)|secretory granule membrane (GO:0030667)	protein homodimerization activity (GO:0042803)|zinc ion binding (GO:0008270)|zinc ion transmembrane transporter activity (GO:0005385)			breast(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(18)|ovary(2)|pancreas(2)|skin(5)	41	all_cancers(13;2.11e-22)|Lung NSC(37;6.08e-05)|Ovarian(258;0.0173)		STAD - Stomach adenocarcinoma(47;0.203)			TGCTAGTGTACCTGGCATGTG	0.527																																					Ovarian(162;1202 1922 6011 16223 52092)	ENST00000427715.2																			0				breast(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(18)|ovary(2)|pancreas(2)|skin(5)	41						c.(331-333)taC>taT		solute carrier family 30 (zinc transporter), member 8							317	275	289					8																	118169991		2203	4300	6503	SO:0001819	synonymous_variant	169026				insulin secretion|positive regulation of insulin secretion|regulation of sequestering of zinc ion|regulation of vesicle-mediated transport|response to glucose stimulus|sequestering of zinc ion	integral to membrane|plasma membrane|secretory granule membrane|transport vesicle membrane	protein homodimerization activity|zinc ion transmembrane transporter activity	g.chr8:118169991C>T		CCDS6322.1, CCDS55272.1	8q24.11	2014-08-12			ENSG00000164756			"Solute carriers"	20303	protein-coding gene	gene with protein product		611145					Standard	NM_001172811		Approved		uc003yoh.3	Q8IWU4	OTTHUMG00000164962	ENST00000456015.2:c.480C>T	8.37:g.118169991C>T						SLC30A8_ENST00000521243.1_Silent_p.Y111Y|SLC30A8_ENST00000519688.1_Silent_p.Y111Y|SLC30A8_ENST00000456015.2_Silent_p.Y160Y	p.Y111Y	NM_001172813.1|NM_001172815.1	NP_001166284.1|NP_001166286.1	Q8IWU4	ZNT8_HUMAN	STAD - Stomach adenocarcinoma(47;0.203)		7	767	+	all_cancers(13;2.11e-22)|Lung NSC(37;6.08e-05)|Ovarian(258;0.0173)		160					A0AVP9|A5YM39|B4DPE0|Q8TCL3	Silent	SNP	ENST00000456015.2	37	c.333C>T	CCDS6322.1																																																																																				0.527	SLC30A8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381205.1	NM_173851		5	230	0	0	0	1	0	5	230					T	118169991	C	T	118169991	2	4	315	1	0	0	0	0	0	0	0	1	14561	518	18	3		3	SLC30A8	8	118169991	Silent	SNP	C	TCGA-KK-A6E4-01A-11D-A30E-08	301581	118169991	28194031	28	16197											
PLAA	9373	broad.mit.edu	37	chr9	26926460	26926460	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ataatatacttcaagacactCgccagtgatttgccaccttc	12	12	5	12	1	1	2	1	1	0	1	3	2	1	2	3	0	2	0	3	0	4	6			TCGA-KK-A6E4-01A-11D-A30E-08	TCGA-KK-A6E4-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40596942-42c7-4514-8bf8-a5290015cfd8	03842b93-be03-4e34-a1c4-c29aa2f3a1ec	g.chr9:26926460C>T	ENST00000397292.3	-	5	1081	c.664G>A	c.(664-666)Gag>Aag	p.E222K	PLAA_ENST00000520884.1_Missense_Mutation_p.E222K	NM_001031689.2	NP_001026859.1	Q9Y263	PLAP_HUMAN	phospholipase A2-activating protein	222					inflammatory response (GO:0006954)|phospholipid metabolic process (GO:0006644)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)	phospholipase A2 activator activity (GO:0016005)			breast(1)|endometrium(7)|kidney(2)|large_intestine(3)|lung(3)|prostate(1)	17		all_neural(3;3.53e-10)|Glioma(3;2.71e-09)		Lung(218;1.32e-05)|LUSC - Lung squamous cell carcinoma(38;0.00011)		TCAAGACACTCGCCAGTGATT	0.328																																					Melanoma(175;2670 2735 14091 35526)	ENST00000397292.3																			0				breast(1)|endometrium(7)|kidney(2)|large_intestine(3)|lung(3)|prostate(1)	17						c.(664-666)Gag>Aag		phospholipase A2-activating protein							89	94	92					9																	26926460		2203	4300	6503	SO:0001583	missense	9373				phospholipid metabolic process|signal transduction		phospholipase A2 activator activity	g.chr9:26926460C>T	AF083395	CCDS35000.1	9p21	2013-01-10			ENSG00000137055	ENSG00000137055		"WD repeat domain containing"	9043	protein-coding gene	gene with protein product	"DOA1 homolog (S. cerevisiae)"	603873				9931468, 10644453	Standard	NM_001031689		Approved	PLAP, PLA2P, FLJ11281, FLJ12699, DOA1	uc003zqd.3	Q9Y263	OTTHUMG00000019708	ENST00000397292.3:c.664G>A	9.37:g.26926460C>T	ENSP00000380460:p.Glu222Lys					PLAA_ENST00000520884.1_Missense_Mutation_p.E222K	p.E222K	NM_001031689.2	NP_001026859.1	Q9Y263	PLAP_HUMAN		Lung(218;1.32e-05)|LUSC - Lung squamous cell carcinoma(38;0.00011)	5	1081	-		all_neural(3;3.53e-10)|Glioma(3;2.71e-09)	222					Q53EU5|Q5VY33|Q9NUL8|Q9NVE9|Q9UF53|Q9Y5L1	Missense_Mutation	SNP	ENST00000397292.3	37	c.664G>A	CCDS35000.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.99|17.99	3.521990|3.521990	0.64747|0.64747	.|.	.|.	ENSG00000137055|ENSG00000137055	ENST00000397292;ENST00000520884|ENST00000523212	T;T|.	0.59906|.	0.23;0.23|.	4.83|4.83	4.83|4.83	0.62350|0.62350	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.50120|0.50120	0.1597|0.1597	N|N	0.16066|0.16066	0.365|0.365	0.80722|0.80722	D|D	1|1	B;B|.	0.20988|.	0.008;0.05|.	B;B|.	0.21151|.	0.005;0.033|.	T|T	0.47302|0.47302	-0.9128|-0.9128	10|5	0.11794|.	T|.	0.64|.	-3.2567|-3.2567	17.9185|17.9185	0.88959|0.88959	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	222;222|.	E5RIM3;Q9Y263|.	.;PLAP_HUMAN|.	K|Q	222|198	ENSP00000380460:E222K;ENSP00000429372:E222K|.	ENSP00000380460:E222K|.	E|R	-|-	1|2	0|0	PLAA|PLAA	26916460|26916460	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.988000|0.988000	0.76386|0.76386	4.317000|4.317000	0.59184|0.59184	2.226000|2.226000	0.72624|0.72624	0.467000|0.467000	0.42956|0.42956	GAG|CGA		0.328	PLAA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051958.2	NM_001031689		31	45	0	0	0	1	0	31	45					T	26926460	C	T	26926460	3	4	315	1	0	0	0	0	1	0	0	0	12011	893	31	2	1763	2	PLAA	9	26926460	Missense_Mutation	SNP	C	TCGA-KK-A6E4-01A-11D-A30E-08		26926460	114286971	29	16198											
NOTCH1	4851	broad.mit.edu	37	chr9	139400029	139400029	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcgatcagcggcggggggAtgtcgcgcccggccccaccc	4	4	15	18	6	1	0	1	0	0	0	3	2	1	1	5	5	1	0	5	5	0	0			TCGA-KK-A6E4-01A-11D-A30E-08	TCGA-KK-A6E4-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40596942-42c7-4514-8bf8-a5290015cfd8	03842b93-be03-4e34-a1c4-c29aa2f3a1ec	g.chr9:139400029A>G	ENST00000277541.6	-	25	4394	c.4319T>C	c.(4318-4320)aTc>aCc	p.I1440T		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	1440					anagen (GO:0042640)|aortic valve morphogenesis (GO:0003180)|apoptotic process involved in embryonic digit morphogenesis (GO:1902263)|arterial endothelial cell differentiation (GO:0060842)|atrioventricular node development (GO:0003162)|atrioventricular valve morphogenesis (GO:0003181)|auditory receptor cell fate commitment (GO:0009912)|axonogenesis (GO:0007409)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac atrium morphogenesis (GO:0003209)|cardiac chamber formation (GO:0003207)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac left ventricle morphogenesis (GO:0003214)|cardiac muscle cell proliferation (GO:0060038)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac right atrium morphogenesis (GO:0003213)|cardiac right ventricle formation (GO:0003219)|cardiac septum morphogenesis (GO:0060411)|cardiac vascular smooth muscle cell development (GO:0060948)|cardiac ventricle morphogenesis (GO:0003208)|cell fate specification (GO:0001708)|cell migration involved in endocardial cushion formation (GO:0003273)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|cilium morphogenesis (GO:0060271)|collecting duct development (GO:0072044)|compartment pattern specification (GO:0007386)|coronary artery morphogenesis (GO:0060982)|coronary vein morphogenesis (GO:0003169)|determination of left/right symmetry (GO:0007368)|distal tubule development (GO:0072017)|embryonic hindlimb morphogenesis (GO:0035116)|endocardial cell differentiation (GO:0060956)|endocardial cushion morphogenesis (GO:0003203)|endocardium development (GO:0003157)|endocardium morphogenesis (GO:0003160)|endoderm development (GO:0007492)|epithelial to mesenchymal transition (GO:0001837)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|forebrain development (GO:0030900)|foregut morphogenesis (GO:0007440)|gene expression (GO:0010467)|glial cell differentiation (GO:0010001)|glomerular mesangial cell development (GO:0072144)|growth involved in heart morphogenesis (GO:0003241)|hair follicle morphogenesis (GO:0031069)|heart development (GO:0007507)|heart looping (GO:0001947)|heart trabecula morphogenesis (GO:0061384)|humoral immune response (GO:0006959)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|keratinocyte differentiation (GO:0030216)|left/right axis specification (GO:0070986)|liver development (GO:0001889)|lung development (GO:0030324)|mesenchymal cell development (GO:0014031)|mitral valve formation (GO:0003192)|negative regulation of anoikis (GO:2000811)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of endothelial cell chemotaxis (GO:2001027)|negative regulation of glial cell proliferation (GO:0060253)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of neurogenesis (GO:0050768)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of ossification (GO:0030279)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of photoreceptor cell differentiation (GO:0046533)|negative regulation of pro-B cell differentiation (GO:2000974)|negative regulation of stem cell differentiation (GO:2000737)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|Notch signaling pathway involved in regulation of secondary heart field cardioblast proliferation (GO:0003270)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061419)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland epithelium morphogenesis (GO:0060740)|pulmonary valve morphogenesis (GO:0003184)|regulation of epithelial cell proliferation involved in prostate gland development (GO:0060768)|regulation of extracellular matrix assembly (GO:1901201)|regulation of somitogenesis (GO:0014807)|regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003256)|regulation of transcription, DNA-templated (GO:0006355)|response to muramyl dipeptide (GO:0032495)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell division (GO:0048103)|sprouting angiogenesis (GO:0002040)|transcription initiation from RNA polymerase II promoter (GO:0006367)|tube formation (GO:0035148)|vasculogenesis involved in coronary vascular morphogenesis (GO:0060979)|venous endothelial cell differentiation (GO:0060843)|ventricular septum morphogenesis (GO:0060412)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|MAML1-RBP-Jkappa- ICN1 complex (GO:0002193)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|receptor activity (GO:0004872)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		CGGCGGGGGGATGTCGCGCCC	0.677			"T, Mis, O"	TRB@	T-ALL					HNSCC(8;0.001)																												ENST00000277541.6				Dom	yes		9	9q34.3	4851	"T, Mis, O"	"Notch homolog 1, translocation-associated (Drosophila) (TAN1)"			L	TRB@		T-ALL		0				breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359						c.(4318-4320)aTc>aCc		notch 1							15	20	18					9																	139400029		2016	4152	6168	SO:0001583	missense	4851				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	g.chr9:139400029A>G	AF308602	CCDS43905.1	9q34.3	2013-01-10	2010-06-24		ENSG00000148400	ENSG00000148400		"Ankyrin repeat domain containing"	7881	protein-coding gene	gene with protein product		190198	"Notch (Drosophila) homolog 1 (translocation-associated)", "Notch homolog 1, translocation-associated (Drosophila)"	TAN1		1831692	Standard	NM_017617		Approved		uc004chz.3	P46531	OTTHUMG00000020935	ENST00000277541.6:c.4319T>C	9.37:g.139400029A>G	ENSP00000277541:p.Ile1440Thr	HNSCC(8;0.001)					p.I1440T	NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)	25	4394	-	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)	1440					Q59ED8|Q5SXM3	Missense_Mutation	SNP	ENST00000277541.6	37	c.4319T>C	CCDS43905.1	.	.	.	.	.	.	.	.	.	.	A	15.12	2.739989	0.49045	.	.	ENSG00000148400	ENST00000277541	D	0.81579	-1.51	4.45	4.45	0.53987	.	0.000000	0.85682	U	0.000000	T	0.77658	0.4163	N	0.04959	-0.14	0.49299	D	0.99977	D	0.76494	0.999	D	0.83275	0.996	T	0.79478	-0.1787	10	0.37606	T	0.19	.	12.8999	0.58119	1.0:0.0:0.0:0.0	.	1440	P46531	NOTC1_HUMAN	T	1440	ENSP00000277541:I1440T	ENSP00000277541:I1440T	I	-	2	0	NOTCH1	138519850	1.000000	0.71417	0.989000	0.46669	0.661000	0.39034	8.767000	0.91732	1.637000	0.50538	0.472000	0.43445	ATC		0.677	NOTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055087.1	NM_017617		7	28	0	0	0	1	0	7	28					G	139400029	A	G	139400029	3	3	315	1	0	0	0	0	1	0	0	0	10547	333	12	4	3388	4	NOTCH1	9	139400029	Missense_Mutation	SNP	A	TCGA-KK-A6E4-01A-11D-A30E-08	112473569	139400029	1813402	30	16199											
CDHR1	92211	broad.mit.edu	37	chr10	85962835	85962835	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggacatggcccctgtcttcGtgggcacaccctactatggc	7	9	11	14	1	1	0	0	0	1	0	2	1	1	1	3	4	1	1	3	4	2	3	rs184579670		TCGA-KK-A6E4-01A-11D-A30E-08	TCGA-KK-A6E4-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40596942-42c7-4514-8bf8-a5290015cfd8	03842b93-be03-4e34-a1c4-c29aa2f3a1ec	g.chr10:85962835G>A	ENST00000372117.3	+	8	842	c.739G>A	c.(739-741)Gtg>Atg	p.V247M	CDHR1_ENST00000440770.2_Missense_Mutation_p.V6M|CDHR1_ENST00000332904.3_Missense_Mutation_p.V247M	NM_033100.2	NP_149091.1	Q96JP9	CDHR1_HUMAN	cadherin-related family member 1	247	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cellular process (GO:0009987)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)	integral component of plasma membrane (GO:0005887)|photoreceptor outer segment membrane (GO:0042622)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(21)|ovary(1)|prostate(1)|skin(1)	36						CCCTGTCTTCGTGGGCACACC	0.617																																						ENST00000372117.3																			0				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(21)|ovary(1)|prostate(1)|skin(1)	36						c.(739-741)Gtg>Atg		cadherin-related family member 1							253	185	208					10																	85962835		2203	4300	6503	SO:0001583	missense	92211				homophilic cell adhesion		calcium ion binding|receptor activity	g.chr10:85962835G>A	AB053448	CCDS7372.1, CCDS53548.1	10q23.1	2014-01-28	2010-01-25	2010-01-25	ENSG00000148600	ENSG00000148600		"Cadherins / Cadherin-related"	14550	protein-coding gene	gene with protein product		609502	"protocadherin 21"	PCDH21		11597768	Standard	NM_001171971		Approved	KIAA1775, CORD15, RP65	uc001kcv.3	Q96JP9	OTTHUMG00000018634	ENST00000372117.3:c.739G>A	10.37:g.85962835G>A	ENSP00000361189:p.Val247Met					CDHR1_ENST00000440770.2_Missense_Mutation_p.V6M|CDHR1_ENST00000332904.3_Missense_Mutation_p.V247M	p.V247M	NM_033100.2	NP_149091.1	Q96JP9	CDHR1_HUMAN			8	842	+			247			Cadherin 3.		Q69YZ8|Q8IXY5	Missense_Mutation	SNP	ENST00000372117.3	37	c.739G>A	CCDS7372.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.050062	0.75846	.	.	ENSG00000148600	ENST00000332904;ENST00000372117;ENST00000440770	T;T;T	0.39056	4.61;4.61;1.1	5.06	5.06	0.68205	Cadherin (3);Cadherin-like (1);	0.243315	0.40640	N	0.001060	T	0.59891	0.2227	M	0.73962	2.25	0.28780	N	0.899904	D;D;D	0.76494	0.999;0.96;0.967	D;P;B	0.64042	0.921;0.57;0.421	T	0.58869	-0.7560	10	0.56958	D	0.05	-14.4731	11.5038	0.50454	0.0859:0.0:0.9141:0.0	.	6;247;247	E7EN47;Q96JP9-2;Q96JP9	.;.;CDHR1_HUMAN	M	247;247;6	ENSP00000331063:V247M;ENSP00000361189:V247M;ENSP00000415980:V6M	ENSP00000331063:V247M	V	+	1	0	CDHR1	85952815	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.010000	0.57117	2.650000	0.89964	0.650000	0.86243	GTG		0.617	CDHR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049111.1	NM_033100		13	107	0	0	0	1	0	13	107					A	85962835	G	A	85962835	3	1	315	1	0	0	0	0	1	0	0	0	3118	1145	40	1	769	1	CDHR1	10	85962835	Missense_Mutation	SNP	G	TCGA-KK-A6E4-01A-11D-A30E-08		85962835	49571912	31	16200											
WDR11	55717	broad.mit.edu	37	chr10	122662580	122662580	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgccaggctctatggtgatGaatcggagctgcacttctgg	7	12	13	9	1	2	2	0	2	2	0	3	3	2	3	1	4	3	3	1	4	2	3			TCGA-KK-A6E4-01A-11D-A30E-08	TCGA-KK-A6E4-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40596942-42c7-4514-8bf8-a5290015cfd8	03842b93-be03-4e34-a1c4-c29aa2f3a1ec	g.chr10:122662580G>T	ENST00000263461.6	+	23	3013	c.2767G>T	c.(2767-2769)Gaa>Taa	p.E923*	WDR11_ENST00000604509.1_3'UTR	NM_018117.11	NP_060587.8	Q8WWQ0	PHIP_HUMAN	WD repeat domain 11	0	Lys-rich.				cytoskeleton organization (GO:0007010)|insulin receptor signaling pathway (GO:0008286)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of mitosis (GO:0045840)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein import into nucleus (GO:0006606)|regulation of cell morphogenesis (GO:0022604)|regulation of growth (GO:0040008)|regulation of protein phosphorylation (GO:0001932)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	insulin receptor binding (GO:0005158)|lysine-acetylated histone binding (GO:0070577)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(9)|prostate(2)|skin(2)|stomach(5)	38						CTATGGTGATGAATCGGAGCT	0.542																																						ENST00000263461.6																			0				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(9)|prostate(2)|skin(2)|stomach(5)	38						c.(2767-2769)Gaa>Taa		WD repeat domain 11							120	93	102					10																	122662580		2203	4300	6503	SO:0001587	stop_gained	55717					integral to membrane		g.chr10:122662580G>T	AF320223	CCDS7619.1	10q26	2013-01-21	2010-01-06	2010-01-06	ENSG00000120008	ENSG00000120008		"WD repeat domain containing"	13831	protein-coding gene	gene with protein product		606417	"bromodomain and WD repeat domain containing 2"	BRWD2		10718198, 11536051	Standard	NM_018117		Approved	KIAA1351, FLJ10506, WDR15, HH14, DR11	uc021pzt.1	Q9BZH6	OTTHUMG00000019171	ENST00000263461.6:c.2767G>T	10.37:g.122662580G>T	ENSP00000263461:p.Glu923*					WDR11_ENST00000604509.1_3'UTR	p.E923*	NM_018117.11	NP_060587.8	Q9BZH6	WDR11_HUMAN			23	3013	+			923					A7J992|B2RPK4|Q05CQ9|Q5VVH4|Q66I29|Q69YV1|Q8NBZ5|Q96H52|Q96ME2|Q9H261	Nonsense_Mutation	SNP	ENST00000263461.6	37	c.2767G>T	CCDS7619.1	.	.	.	.	.	.	.	.	.	.	G	38	7.036185	0.98017	.	.	ENSG00000120008	ENST00000263461	.	.	.	5.77	4.86	0.63082	.	0.095810	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.40728	T	0.16	-28.5858	14.8702	0.70450	0.0688:0.0:0.9312:0.0	.	.	.	.	X	923	.	ENSP00000263461:E923X	E	+	1	0	WDR11	122652570	1.000000	0.71417	0.176000	0.23000	0.021000	0.10359	9.132000	0.94455	1.570000	0.49709	0.655000	0.94253	GAA		0.542	WDR11-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050707.2			8	44	1	0	0.000274275	1	0.000287764	8	44					T	122662580	G	T	122662580	4	4	315	1	0	0	0	0	0	1	0	0	17270	1291	45	5	2857	5	WDR11	10	122662580	Nonsense_Mutation	SNP	G	TCGA-KK-A6E4-01A-11D-A30E-08	36699745	122662580	12872167	32	16201											
OR5AS1	219447	broad.mit.edu	37	chr11	55798207	55798207	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cactacaaatgtttttcttcGcttcttttgctgatgctgag	7	18	7	9	1	2	2	0	2	2	0	3	2	2	2	0	0	3	4	0	0	2	7	rs370300707		TCGA-KK-A6E4-01A-11D-A30E-08	TCGA-KK-A6E4-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40596942-42c7-4514-8bf8-a5290015cfd8	03842b93-be03-4e34-a1c4-c29aa2f3a1ec	g.chr11:55798207G>A	ENST00000313555.1	+	1	313	c.313G>A	c.(313-315)Gct>Act	p.A105T		NM_001001921.1	NP_001001921.1	Q8N127	O5AS1_HUMAN	olfactory receptor, family 5, subfamily AS, member 1	105						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A105T(1)		endometrium(7)|large_intestine(7)|liver(1)|lung(22)|ovary(3)|prostate(4)|skin(3)|stomach(1)	48	Esophageal squamous(21;0.00693)					GTTTTTCTTCGCTTCTTTTGC	0.463																																						ENST00000313555.1																			1	Substitution - Missense(1)	p.A105T(1)	lung(1)	endometrium(7)|large_intestine(7)|liver(1)|lung(22)|ovary(3)|prostate(4)|skin(3)|stomach(1)	48						c.(313-315)Gct>Act		olfactory receptor, family 5, subfamily AS, member 1		G	THR/ALA	1,4401	2.1+/-5.4	0,1,2200	104	89	94		313	4.5	1	11		94	1,8591	1.2+/-3.3	0,1,4295	no	missense	OR5AS1	NM_001001921.1	58	0,2,6495	AA,AG,GG		0.0116,0.0227,0.0154	benign	105/325	55798207	2,12992	2201	4296	6497	SO:0001583	missense	219447				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55798207G>A	AB065543	CCDS31516.1	11q11	2012-08-09			ENSG00000181785	ENSG00000181785		"GPCR / Class A : Olfactory receptors"	15261	protein-coding gene	gene with protein product							Standard	NM_001001921		Approved		uc010riw.2	Q8N127	OTTHUMG00000166830	ENST00000313555.1:c.313G>A	11.37:g.55798207G>A	ENSP00000324111:p.Ala105Thr						p.A105T	NM_001001921.1	NP_001001921.1	Q8N127	O5AS1_HUMAN			1	313	+	Esophageal squamous(21;0.00693)		105					Q6IFB8	Missense_Mutation	SNP	ENST00000313555.1	37	c.313G>A	CCDS31516.1	.	.	.	.	.	.	.	.	.	.	G	13.33	2.203770	0.38905	2.27E-4	1.16E-4	ENSG00000181785	ENST00000313555	T	0.00570	6.51	5.46	4.54	0.55810	GPCR, rhodopsin-like superfamily (1);	0.228496	0.22097	U	0.064673	T	0.00328	0.0010	N	0.12471	0.22	0.09310	N	1	P	0.42161	0.772	B	0.30943	0.122	T	0.59144	-0.7509	10	0.49607	T	0.09	.	10.8719	0.46887	0.0:0.1412:0.7125:0.1463	.	105	Q8N127	O5AS1_HUMAN	T	105	ENSP00000324111:A105T	ENSP00000324111:A105T	A	+	1	0	OR5AS1	55554783	0.000000	0.05858	0.977000	0.42913	0.931000	0.56810	0.111000	0.15458	1.274000	0.44362	0.643000	0.83706	GCT		0.463	OR5AS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391538.1	NM_001001921		16	35	0	0	0	1	0	16	35					A	55798207	G	A	55798207	3	1	315	1	0	0	0	0	1	0	0	0	11146	1087	38	1	315	1	OR5AS1	11	55798207	Missense_Mutation	SNP	G	TCGA-KK-A6E4-01A-11D-A30E-08		55798207	79208309	33	16202											
BBS10	79738	broad.mit.edu	37	chr12	76740974	76740974	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aagtggaaaaaagaggctgaAtggtttctgttactatcacc	14	11	10	6	0	2	2	1	1	1	1	2	3	2	3	1	3	1	3	1	3	7	3			TCGA-KK-A6E4-01A-11D-A30E-08	TCGA-KK-A6E4-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40596942-42c7-4514-8bf8-a5290015cfd8	03842b93-be03-4e34-a1c4-c29aa2f3a1ec	g.chr12:76740974A>C	ENST00000393262.3	-	2	874	c.791T>G	c.(790-792)aTt>aGt	p.I264S		NM_024685.3	NP_078961.3	Q8TAM1	BBS10_HUMAN	Bardet-Biedl syndrome 10	264					cellular protein metabolic process (GO:0044267)|chaperone-mediated protein complex assembly (GO:0051131)|nonmotile primary cilium assembly (GO:0035058)|photoreceptor cell maintenance (GO:0045494)|regulation of protein complex assembly (GO:0043254)|response to stimulus (GO:0050896)|retina homeostasis (GO:0001895)|visual perception (GO:0007601)	cell projection (GO:0042995)	ATP binding (GO:0005524)|RNA polymerase II repressing transcription factor binding (GO:0001103)			endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)	19						AAGAGGCTGAATGGTTTCTGT	0.393									Bardet-Biedl syndrome																													ENST00000393262.3																			0				endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)	19						c.(790-792)aTt>aGt		Bardet-Biedl syndrome 10							67	57	61					12																	76740974		2203	4300	6503	SO:0001583	missense	79738	Bardet-Biedl syndrome	Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome	cellular protein metabolic process|nonmotile primary cilium assembly|photoreceptor cell maintenance|response to stimulus|retina homeostasis	cilium	ATP binding	g.chr12:76740974A>C	BC026355	CCDS9014.2	12q21.2	2014-06-17	2006-04-28	2006-04-28	ENSG00000179941	ENSG00000179941		"Heat Shock Proteins / Chaperonins"	26291	protein-coding gene	gene with protein product		610148	"chromosome 12 open reading frame 58"	C12orf58		16582908	Standard	NM_024685		Approved	FLJ23560	uc001syd.1	Q8TAM1	OTTHUMG00000147352	ENST00000393262.3:c.791T>G	12.37:g.76740974A>C	ENSP00000376946:p.Ile264Ser						p.I264S	NM_024685.3	NP_078961.3	Q8TAM1	BBS10_HUMAN			2	874	-			264					Q96CW2|Q9H5D2	Missense_Mutation	SNP	ENST00000393262.3	37	c.791T>G	CCDS9014.2	.	.	.	.	.	.	.	.	.	.	A	16.04	3.011091	0.54361	.	.	ENSG00000179941	ENST00000393262	D	0.82344	-1.6	5.13	5.13	0.70059	.	0.360192	0.25765	N	0.028444	D	0.85779	0.5776	L	0.56769	1.78	0.31794	N	0.629304	D	0.54397	0.966	P	0.52856	0.711	D	0.88362	0.2988	10	0.72032	D	0.01	-3.9585	14.568	0.68191	1.0:0.0:0.0:0.0	.	264	Q8TAM1	BBS10_HUMAN	S	264	ENSP00000376946:I264S	ENSP00000376946:I264S	I	-	2	0	BBS10	75265105	1.000000	0.71417	0.793000	0.32043	0.721000	0.41392	6.733000	0.74796	2.281000	0.76405	0.528000	0.53228	ATT		0.393	BBS10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000303983.2	NM_024685		5	34	0	0	0	1	0	5	34					C	76740974	A	C	76740974	3	2	315	1	0	0	0	0	1	0	0	0	1336	101	4	5	1384	5	BBS10	12	76740974	Missense_Mutation	SNP	A	TCGA-KK-A6E4-01A-11D-A30E-08		76740974	57110921	34	16203											
FRY	10129	broad.mit.edu	37	chr13	32818263	32818263	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gctacatggacctttctgtcGttcctgtcaaacagttcaat	9	14	7	11	1	3	0	2	0	1	0	5	1	4	1	2	1	2	3	2	1	3	4	rs369792017		TCGA-KK-A6E4-01A-11D-A30E-08	TCGA-KK-A6E4-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40596942-42c7-4514-8bf8-a5290015cfd8	03842b93-be03-4e34-a1c4-c29aa2f3a1ec	g.chr13:32818263G>A	ENST00000380250.3	+	47	7268	c.6772G>A	c.(6772-6774)Gtt>Att	p.V2258I		NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	2258						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		CCTTTCTGTCGTTCCTGTCAA	0.473																																						ENST00000380250.3																			0				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132						c.(6772-6774)Gtt>Att		furry homolog (Drosophila)		G	ILE/VAL	0,3928		0,0,1964	118	117	118		6772	4	0	13		118	1,8325		0,1,4162	no	missense	FRY	NM_023037.2	29	0,1,6126	AA,AG,GG		0.012,0.0,0.0082	benign	2258/3014	32818263	1,12253	1964	4163	6127	SO:0001583	missense	10129				regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane		g.chr13:32818263G>A	AL049784	CCDS41875.1	13q13.1	2008-02-05	2005-11-24	2005-11-24	ENSG00000073910	ENSG00000073910			20367	protein-coding gene	gene with protein product		614818	"chromosome 13 open reading frame 14"	C13orf14		14702039, 8812419	Standard	NM_023037		Approved	bA37E23.1, 13CDNA73, CG003	uc001utx.3	Q5TBA9	OTTHUMG00000016696	ENST00000380250.3:c.6772G>A	13.37:g.32818263G>A	ENSP00000369600:p.Val2258Ile						p.V2258I	NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)	47	7268	+		Lung SC(185;0.0271)	2258					Q9Y3N6	Missense_Mutation	SNP	ENST00000380250.3	37	c.6772G>A	CCDS41875.1	.	.	.	.	.	.	.	.	.	.	G	3.765	-0.048856	0.07407	0.0	1.2E-4	ENSG00000073910	ENST00000380250;ENST00000380257	T	0.22336	1.96	5.84	4.04	0.47022	.	0.161304	0.53938	N	0.000059	T	0.06325	0.0163	N	0.01003	-1.06	0.36761	D	0.883264	B	0.02656	0.0	B	0.04013	0.001	T	0.17806	-1.0357	10	0.30078	T	0.28	.	6.6843	0.23136	0.435:0.0:0.565:0.0	.	2258	Q5TBA9	FRY_HUMAN	I	2258;1095	ENSP00000369600:V2258I	ENSP00000369600:V2258I	V	+	1	0	FRY	31716263	0.460000	0.25776	0.009000	0.14445	0.231000	0.25187	1.007000	0.29860	0.735000	0.32537	0.650000	0.86243	GTT		0.473	FRY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044405.1	NM_023037		13	49	0	0	0	1	0	13	49					A	32818263	G	A	32818263	3	1	315	1	0	0	0	0	1	0	0	0	6063	1145	40	1	6958	1	FRY	13	32818263	Missense_Mutation	SNP	G	TCGA-KK-A6E4-01A-11D-A30E-08		32818263	82351615	35	16204											
OR4K5	79317	broad.mit.edu	37	chr14	20389698	20389698	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tacctgaggccaaggagaatTtctgaaatgtcactagtagt	13	11	10	7	0	2	3	1	2	1	1	2	4	2	3	2	2	1	1	2	2	6	4			TCGA-KK-A6E4-01A-11D-A30E-08	TCGA-KK-A6E4-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40596942-42c7-4514-8bf8-a5290015cfd8	03842b93-be03-4e34-a1c4-c29aa2f3a1ec	g.chr14:20389698T>A	ENST00000315915.4	+	1	958	c.933T>A	c.(931-933)atT>atA	p.I311I		NM_001005483.1	NP_001005483.1	Q8NGD3	OR4K5_HUMAN	olfactory receptor, family 4, subfamily K, member 5	311						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|liver(1)|lung(27)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		CAAGGAGAATTTCTGAAATGT	0.368																																						ENST00000315915.4																			0				central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|liver(1)|lung(27)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	47						c.(931-933)atT>atA		olfactory receptor, family 4, subfamily K, member 5							83	95	91					14																	20389698		2202	4300	6502	SO:0001819	synonymous_variant	79317				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20389698T>A	BK004355	CCDS32024.1	14q11.22	2012-08-09				ENSG00000176281		"GPCR / Class A : Olfactory receptors"	14745	protein-coding gene	gene with protein product						14983052	Standard	NM_001005483		Approved		uc010tkw.2	Q8NGD3		ENST00000315915.4:c.933T>A	14.37:g.20389698T>A							p.I311I	NM_001005483.1	NP_001005483.1	Q8NGD3	OR4K5_HUMAN	Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)	1	958	+	all_cancers(95;0.00108)		311					Q6IFA7	Silent	SNP	ENST00000315915.4	37	c.933T>A	CCDS32024.1																																																																																				0.368	OR4K5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409867.1	NM_001005483		36	44	0	0	0	1	0	36	44					A	20389698	T	A	20389698	2	1	315	1	0	0	0	0	0	0	0	1	11073	1829	64	5		5	OR4K5	14	20389698	Silent	SNP	T	TCGA-KK-A6E4-01A-11D-A30E-08		20389698	86959842	36	16205											
PCNX	22990	broad.mit.edu	37	chr14	71445025	71445026	+	Frame_Shift_Del	DEL	AC	AC	-																															gaaaggggcacagactctgaAcacacacacaaagctcattt																								rs142489415		TCGA-KK-A6E4-01A-11D-A30E-08	TCGA-KK-A6E4-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40596942-42c7-4514-8bf8-a5290015cfd8	03842b93-be03-4e34-a1c4-c29aa2f3a1ec	g.chr14:71445025_71445026delAC	ENST00000304743.2	+	6	2417_2418	c.1971_1972delAC	c.(1969-1974)gaacacfs	p.H658fs	PCNX_ENST00000439984.3_Frame_Shift_Del_p.H658fs|PCNX_ENST00000238570.5_Frame_Shift_Del_p.H658fs	NM_014982.2	NP_055797.2	Q96RV3	PCX1_HUMAN	pecanex homolog (Drosophila)	658						integral component of membrane (GO:0016021)				NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1)	87			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)		CAGACTCTGAACACACACACAA	0.485																																						ENST00000304743.2																			0				NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1)	87						c.(1969-1974)gaacfs		pecanex homolog (Drosophila)																																				SO:0001589	frameshift_variant	22990					integral to membrane		g.chr14:71445025_71445026delAC	AF233450, AB018348	CCDS9806.1	14q24.2	2014-07-03							19740	protein-coding gene	gene with protein product			"pecanex-like 1 (Drosophila)"	PCNXL1		9244429, 15777640	Standard	NM_014982		Approved	KIAA0995, KIAA0805, pecanex	uc001xmo.2	Q96RV3		ENST00000304743.2:c.1971_1972delAC	14.37:g.71445033_71445034delAC	ENSP00000304192:p.His658fs					PCNX_ENST00000439984.3_Frame_Shift_Del_p.EH657fs|PCNX_ENST00000238570.5_Frame_Shift_Del_p.EH657fs	p.EH657fs	NM_014982.2	NP_055797.2	Q96RV3	PCX1_HUMAN	KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)	6	2417_2418	+			657					B2RTR6|O94897|Q96AI7|Q9Y2J9	Frame_Shift_Del	DEL	ENST00000304743.2	37	c.1971_1972delAC	CCDS9806.1																																																																																				0.485	PCNX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412479.1	NM_014982		7	216						7	216	---	---	---	---	-	71445026	AC	-	71445025	7	5	315	1	0	1	0	1	0	0	0	0	11591	40	2	0	1993	0	PCNX	14	71445025	Frame_Shift_Del	DEL	AC	TCGA-KK-A6E4-01A-11D-A30E-08	51055327	71445025	35904515	37	16206											
C14orf49	161176	broad.mit.edu	37	chr14	95909521	95909521	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cctctgcagggcctggaagtCggaggaaagctggtccattt	8	9	14	10	1	1	0	0	0	1	0	3	3	2	3	3	5	2	2	3	5	2	1			TCGA-KK-A6E4-01A-11D-A30E-08	TCGA-KK-A6E4-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40596942-42c7-4514-8bf8-a5290015cfd8	03842b93-be03-4e34-a1c4-c29aa2f3a1ec	g.chr14:95909521C>T	ENST00000334258.5	-	10	1896	c.1882G>A	c.(1882-1884)Gac>Aac	p.D628N	SYNE3_ENST00000557275.1_Missense_Mutation_p.D628N|SYNE3_ENST00000554873.1_Missense_Mutation_p.D385N	NM_152592.3	NP_689805.3	Q6ZMZ3	SYNE3_HUMAN	spectrin repeat containing, nuclear envelope family member 3	628					cytoskeletal anchoring at nuclear membrane (GO:0090286)|cytoskeleton organization (GO:0007010)|establishment of protein localization to membrane (GO:0090150)|regulation of cell shape (GO:0008360)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear outer membrane (GO:0005640)|SUN-KASH complex (GO:0034993)	actin filament binding (GO:0051015)			breast(1)|endometrium(2)|lung(25)	28						GCCTGGAAGTCGGAGGAAAGC	0.627																																						ENST00000334258.5																			0				breast(1)|endometrium(2)|lung(25)	28						c.(1882-1884)Gac>Aac		spectrin repeat containing, nuclear envelope family member 3							87	96	93					14																	95909521		2203	4300	6503	SO:0001583	missense	161176							g.chr14:95909521C>T	AK098471	CCDS9935.1	14q32.13	2012-05-31	2012-05-31	2012-05-31	ENSG00000176438	ENSG00000176438			19861	protein-coding gene	gene with protein product		610861	"chromosome 14 open reading frame 49"	C14orf49			Standard	NM_152592		Approved	FLJ25605, NET53, Nesprin-3, Nesp3	uc001yei.4	Q6ZMZ3	OTTHUMG00000171632	ENST00000334258.5:c.1882G>A	14.37:g.95909521C>T	ENSP00000334308:p.Asp628Asn					SYNE3_ENST00000554873.1_Missense_Mutation_p.D385N|SYNE3_ENST00000557275.1_Missense_Mutation_p.D628N	p.D628N	NM_152592.3	NP_689805.3					10	1896	-								A6H8H3|Q86SX5|Q8N7G8	Missense_Mutation	SNP	ENST00000334258.5	37	c.1882G>A	CCDS9935.1	.	.	.	.	.	.	.	.	.	.	C	16.79	3.220694	0.58560	.	.	ENSG00000176438	ENST00000334258;ENST00000554873;ENST00000557275	T;T;T	0.34275	1.37;1.37;1.37	5.07	3.16	0.36331	.	0.157646	0.29529	N	0.011899	T	0.42810	0.1219	L	0.34521	1.04	0.20489	N	0.999892	D;D	0.89917	1.0;1.0	D;P	0.64687	0.928;0.848	T	0.32666	-0.9898	10	0.21540	T	0.41	-15.8854	12.6153	0.56573	0.0:0.6797:0.3203:0.0	.	628;628	Q6ZMZ3-2;Q6ZMZ3	.;SYNE3_HUMAN	N	628;385;628	ENSP00000334308:D628N;ENSP00000452154:D385N;ENSP00000450562:D628N	ENSP00000334308:D628N	D	-	1	0	C14orf49	94979274	0.601000	0.26907	0.025000	0.17156	0.633000	0.38033	0.676000	0.25247	0.478000	0.27488	0.561000	0.74099	GAC		0.627	SYNE3-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000420529.2	NM_152592		15	27	0	0	0	1	0	15	27					T	95909521	C	T	95909521	3	4	315	1	0	0	0	0	1	0	0	0	1776	884	31	2	1077	2	C14orf49	14	95909521	Missense_Mutation	SNP	C	TCGA-KK-A6E4-01A-11D-A30E-08	24464496	95909521	11440019	38	16207											
ARNT2	9915	broad.mit.edu	37	chr15	80873662	80873662	+	Frame_Shift_Del	DEL	C	C	-																															ctacccggcagacccctcttCctacagccccctctccagcc																										TCGA-KK-A6E4-01A-11D-A30E-08	TCGA-KK-A6E4-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40596942-42c7-4514-8bf8-a5290015cfd8	03842b93-be03-4e34-a1c4-c29aa2f3a1ec	g.chr15:80873662delC	ENST00000303329.4	+	17	2000	c.1835delC	c.(1834-1836)tccfs	p.S612fs	ARNT2_ENST00000527771.1_Frame_Shift_Del_p.S601fs|ARNT2_ENST00000533983.1_Frame_Shift_Del_p.S601fs|hsa-mir-5572_ENST00000583188.1_RNA|RP11-379K22.3_ENST00000603875.1_RNA	NM_014862.3	NP_055677.3	Q9HBZ2	ARNT2_HUMAN	aryl-hydrocarbon receptor nuclear translocator 2	612					central nervous system development (GO:0007417)|in utero embryonic development (GO:0001701)|negative regulation of apoptotic process (GO:0043066)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|response to estradiol (GO:0032355)|response to hypoxia (GO:0001666)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	aryl hydrocarbon receptor binding (GO:0017162)|DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|pancreas(2)|prostate(2)|skin(1)	35			BRCA - Breast invasive adenocarcinoma(143;0.134)			GACCCCTCTTCCTACAGCCCC	0.572																																						ENST00000533983.1																			0				NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|pancreas(2)|prostate(2)|skin(1)	35						c.(1801-1803)tcfs		aryl-hydrocarbon receptor nuclear translocator 2							92	84	87					15																	80873662		2203	4300	6503	SO:0001589	frameshift_variant	9915				central nervous system development|in utero embryonic development|response to hypoxia		aryl hydrocarbon receptor binding|DNA binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr15:80873662delC	AB002305	CCDS32307.1	15q25.1	2013-05-21			ENSG00000172379	ENSG00000172379		"Basic helix-loop-helix proteins"	16876	protein-coding gene	gene with protein product		606036				11247670	Standard	NM_014862		Approved	KIAA0307, bHLHe1	uc002bfr.3	Q9HBZ2	OTTHUMG00000165478	ENST00000303329.4:c.1835delC	15.37:g.80873662delC	ENSP00000307479:p.Ser612fs					ARNT2_ENST00000527771.1_Frame_Shift_Del_p.S601fs|ARNT2_ENST00000303329.4_Frame_Shift_Del_p.S612fs	p.S601fs			Q9HBZ2	ARNT2_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.134)		18	2141	+			612					B4DIS7|O15024|Q8IYC2	Frame_Shift_Del	DEL	ENST00000303329.4	37	c.1802delC	CCDS32307.1																																																																																				0.572	ARNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384389.2			19	84						19	84	---	---	---	---	-	80873662	C	-	80873662	7	5	315	1	0	1	0	1	0	0	0	0	966	855	30	0	1901	0	ARNT2	15	80873662	Frame_Shift_Del	DEL	C	TCGA-KK-A6E4-01A-11D-A30E-08		80873662	21657730	39	16208											
DNAH2	146754	broad.mit.edu	37	chr17	7680922	7680922	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gatgtcaattcctttgactgGctcagccaacttcggttcta	8	14	8	11	1	3	1	2	1	1	0	5	2	4	1	2	2	2	2	2	2	3	5			TCGA-KK-A6E4-01A-11D-A30E-08	TCGA-KK-A6E4-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40596942-42c7-4514-8bf8-a5290015cfd8	03842b93-be03-4e34-a1c4-c29aa2f3a1ec	g.chr17:7680922G>A	ENST00000572933.1	+	33	6677	c.5217G>A	c.(5215-5217)tgG>tgA	p.W1739*	DNAH2_ENST00000389173.2_Nonsense_Mutation_p.W1739*			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	1739	Stem. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				CCTTTGACTGGCTCAGCCAAC	0.478																																						ENST00000572933.1																			0				NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189						c.(5215-5217)tgG>tgA		dynein, axonemal, heavy chain 2							250	239	243					17																	7680922		2203	4300	6503	SO:0001587	stop_gained	146754				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:7680922G>A	U83570, AK128517	CCDS32551.1	17p13.1	2007-10-05	2006-09-04			ENSG00000183914		"Axonemal dyneins"	2948	protein-coding gene	gene with protein product		603333	"dynein, axonemal, heavy polypeptide 2", "dynein heavy chain domain 3"	DNHD3		9256245	Standard	XM_005256470		Approved	KIAA1503, FLJ46675	uc002giu.1	Q9P225		ENST00000572933.1:c.5217G>A	17.37:g.7680922G>A	ENSP00000458355:p.Trp1739*					DNAH2_ENST00000389173.2_Nonsense_Mutation_p.W1739*	p.W1739*			Q9P225	DYH2_HUMAN			33	6677	+		all_cancers(10;4.66e-07)|Prostate(122;0.081)	1739			Stem (By similarity).		A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	Nonsense_Mutation	SNP	ENST00000572933.1	37	c.5217G>A	CCDS32551.1	.	.	.	.	.	.	.	.	.	.	G	46	12.308359	0.99656	.	.	ENSG00000183914	ENST00000360606;ENST00000389173	.	.	.	5.49	5.49	0.81192	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	18.1309	0.89600	0.0:0.0:1.0:0.0	.	.	.	.	X	1739	.	ENSP00000353818:W1739X	W	+	3	0	DNAH2	7621647	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.405000	0.97313	2.569000	0.86673	0.585000	0.79938	TGG		0.478	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440241.1	NM_020877		5	422	0	0	0	1	0	5	422					A	7680922	G	A	7680922	4	1	315	1	0	0	0	0	0	1	0	0	4602	1212	42	3	5343	3	DNAH2	17	7680922	Nonsense_Mutation	SNP	G	TCGA-KK-A6E4-01A-11D-A30E-08		7680922	73514288	40	16209											
MYO15A	51168	broad.mit.edu	37	chr17	18023246	18023246	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctacggagtccactacaccGtcccctatgccgaaggcgtc	8	7	9	17	4	0	0	0	0	0	0	3	2	2	1	6	2	3	0	6	2	4	3			TCGA-KK-A6E4-01A-11D-A30E-08	TCGA-KK-A6E4-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40596942-42c7-4514-8bf8-a5290015cfd8	03842b93-be03-4e34-a1c4-c29aa2f3a1ec	g.chr17:18023246G>A	ENST00000205890.5	+	2	1470	c.1132G>A	c.(1132-1134)Gtc>Atc	p.V378I		NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	378					inner ear morphogenesis (GO:0042472)|locomotory behavior (GO:0007626)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|stereocilium (GO:0032420)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					CCACTACACCGTCCCCTATGC	0.597																																						ENST00000205890.5																			0				breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99						c.(1132-1134)Gtc>Atc		myosin XVA							82	90	88					17																	18023246		1960	4142	6102	SO:0001583	missense	51168				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity	g.chr17:18023246G>A	AF144094	CCDS42271.1	17p11.2	2011-09-27			ENSG00000091536	ENSG00000091536		"Myosins / Myosin superfamily : Class XV"	7594	protein-coding gene	gene with protein product		602666		DFNB3, MYO15		9603736	Standard	NM_016239		Approved		uc021trl.1	Q9UKN7	OTTHUMG00000059390	ENST00000205890.5:c.1132G>A	17.37:g.18023246G>A	ENSP00000205890:p.Val378Ile						p.V378I	NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN			2	1470	+	all_neural(463;0.228)		378			Myosin head-like.		B4DFC7	Missense_Mutation	SNP	ENST00000205890.5	37	c.1132G>A	CCDS42271.1	.	.	.	.	.	.	.	.	.	.	G	0.005	-2.131211	0.00338	.	.	ENSG00000091536	ENST00000205890	D	0.88975	-2.45	4.42	-3.11	0.05299	.	.	.	.	.	T	0.72526	0.3471	N	0.11560	0.145	0.09310	N	0.999999	B	0.06786	0.001	B	0.01281	0.0	T	0.57556	-0.7791	9	0.20519	T	0.43	.	5.8961	0.18939	0.2623:0.4007:0.337:0.0	.	378	Q9UKN7	MYO15_HUMAN	I	378	ENSP00000205890:V378I	ENSP00000205890:V378I	V	+	1	0	MYO15A	17963971	0.000000	0.05858	0.002000	0.10522	0.222000	0.24845	-0.795000	0.04580	-0.403000	0.07622	0.561000	0.74099	GTC		0.597	MYO15A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132048.1	NM_016239		47	99	0	0	0	1	0	47	99					A	18023246	G	A	18023246	3	1	315	1	0	0	0	0	1	0	0	0	10063	1145	40	1	1134	1	MYO15A	17	18023246	Missense_Mutation	SNP	G	TCGA-KK-A6E4-01A-11D-A30E-08	10342324	18023246	63171964	41	16210											
PLEKHH3	79990	broad.mit.edu	37	chr17	40822621	40822621	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggaaaggcagttcgtgaccGtctggggacagcccctcagg	9	6	15	11	2	2	1	1	1	1	0	3	3	2	3	3	5	1	2	3	5	1	1	rs201447583		TCGA-KK-A6E4-01A-11D-A30E-08	TCGA-KK-A6E4-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40596942-42c7-4514-8bf8-a5290015cfd8	03842b93-be03-4e34-a1c4-c29aa2f3a1ec	g.chr17:40822621G>A	ENST00000591022.1	-	10	1911	c.1524C>T	c.(1522-1524)gaC>gaT	p.D508D	PLEKHH3_ENST00000412503.1_Silent_p.D505D|PLEKHH3_ENST00000456950.2_5'UTR|PLEKHH3_ENST00000293349.6_Silent_p.D505D	NM_024927.4	NP_079203	Q7Z736	PKHH3_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 3	508	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				signal transduction (GO:0007165)	cytoskeleton (GO:0005856)|extracellular space (GO:0005615)				endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(2)|skin(2)	13		Breast(137;0.00116)		BRCA - Breast invasive adenocarcinoma(366;0.14)		GTTCGTGACCGTCTGGGGACA	0.627																																						ENST00000293349.6																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(2)|skin(2)	13						c.(1513-1515)gaC>gaT		pleckstrin homology domain containing, family H (with MyTH4 domain) member 3							53	53	53					17																	40822621		2203	4300	6503	SO:0001819	synonymous_variant	79990				signal transduction	cytoskeleton		g.chr17:40822621G>A	BC052978	CCDS11434.1	17q21.2	2013-01-11				ENSG00000068137		"Pleckstrin homology (PH) domain containing"	26105	protein-coding gene	gene with protein product						12477932	Standard	NM_024927		Approved	FLJ21019	uc002iau.3	Q7Z736		ENST00000591022.1:c.1524C>T	17.37:g.40822621G>A						PLEKHH3_ENST00000412503.1_Silent_p.D505D|PLEKHH3_ENST00000456950.2_5'UTR|PLEKHH3_ENST00000591022.1_Silent_p.D508D	p.D505D			Q7Z736	PKHH3_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.14)	10	1945	-		Breast(137;0.00116)	508			FERM.		C9JQ76|Q59H20|Q96B28|Q9H7D6|Q9NT18	Silent	SNP	ENST00000591022.1	37	c.1515C>T	CCDS11434.1																																																																																				0.627	PLEKHH3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000452332.1	NM_024927		5	88	0	0	0	1	0	5	88					A	40822621	G	A	40822621	2	1	315	1	0	0	0	0	0	0	0	1	12078	1136	40	1		1	PLEKHH3	17	40822621	Silent	SNP	G	TCGA-KK-A6E4-01A-11D-A30E-08	22799375	40822621	40372589	42	16211											
ZNF737	100129842	broad.mit.edu	37	chr19	20728670	20728670	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	acactttcacagccctttttAaactgtaaattgtcatgtcc	11	15	4	11	0	2	0	2	0	0	0	3	0	3	0	2	0	2	1	2	0	4	6			TCGA-KK-A6E4-01A-11D-A30E-08	TCGA-KK-A6E4-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40596942-42c7-4514-8bf8-a5290015cfd8	03842b93-be03-4e34-a1c4-c29aa2f3a1ec	g.chr19:20728670A>C	ENST00000427401.4	-	4	433	c.339T>G	c.(337-339)ttT>ttG	p.F113L		NM_001159293.1	NP_001152765.1	O75373	ZN737_HUMAN	zinc finger protein 737	113					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|kidney(1)|lung(7)|ovary(1)|stomach(1)|urinary_tract(1)	13						AGCCCTTTTTAAACTGTAAAT	0.353																																						ENST00000427401.4																			0				breast(2)|kidney(1)|lung(7)|ovary(1)|stomach(1)|urinary_tract(1)	13						c.(337-339)ttT>ttG		zinc finger protein 737							133	101	111					19																	20728670		692	1591	2283	SO:0001583	missense	100129842				regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	g.chr19:20728670A>C	BC015765	CCDS54238.1	19p12	2013-01-08						"Zinc fingers, C2H2-type", "-"	32468	protein-coding gene	gene with protein product		603984					Standard	NM_001159293		Approved	ZNF102	uc002npa.3	O75373		ENST00000427401.4:c.339T>G	19.37:g.20728670A>C	ENSP00000395733:p.Phe113Leu						p.F113L	NM_001159293.1	NP_001152765.1	C9JHM3	C9JHM3_HUMAN			4	433	-			113					C9JHM3	Missense_Mutation	SNP	ENST00000427401.4	37	c.339T>G	CCDS54238.1	.	.	.	.	.	.	.	.	.	.	-	0.014	-1.578356	0.00879	.	.	ENSG00000237440	ENST00000427401	T	0.05717	3.4	0.1	0.1	0.14510	.	.	.	.	.	T	0.01029	0.0034	N	0.00099	-2.14	0.20307	N	0.999913	B	0.02656	0.0	B	0.01281	0.0	T	0.46373	-0.9196	9	0.02654	T	1	.	4.6041	0.12368	0.9995:0.0:5.0E-4:0.0	.	113	C9JHM3	.	L	113	ENSP00000395733:F113L	ENSP00000395733:F113L	F	-	3	2	ZNF737	20520510	0.000000	0.05858	0.315000	0.25238	0.315000	0.28087	-1.604000	0.02076	0.147000	0.19030	0.145000	0.16022	TTT		0.353	ZNF737-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447844.2	NM_145289		4	120	0	0	0	1	0	4	120					C	20728670	A	C	20728670	3	2	315	1	0	0	0	0	1	0	0	0	18123	359	13	5	1275	5	ZNF737	19	20728670	Missense_Mutation	SNP	A	TCGA-KK-A6E4-01A-11D-A30E-08		20728670	38400313	43	16212											
SPIB	6689	broad.mit.edu	37	chr19	50926944	50926944	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accgttggacagccctgcccTggaggtctcggacagcgagt	7	7	14	13	3	1	0	0	0	1	0	2	4	1	3	3	4	3	1	3	4	0	1			TCGA-KK-A6E4-01A-11D-A30E-08	TCGA-KK-A6E4-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40596942-42c7-4514-8bf8-a5290015cfd8	03842b93-be03-4e34-a1c4-c29aa2f3a1ec	g.chr19:50926944T>G	ENST00000595883.1	+	5	447	c.422T>G	c.(421-423)cTg>cGg	p.L141R	SPIB_ENST00000439922.2_Missense_Mutation_p.L50R|SPIB_ENST00000597855.1_Silent_p.P129P|SPIB_ENST00000270632.7_Missense_Mutation_p.L141R|SPIB_ENST00000596074.1_Silent_p.P69P|CTD-2545M3.6_ENST00000599632.1_Silent_p.P275P	NM_001243999.1|NM_001244000.1|NM_003121.4	NP_001230928.1|NP_001230929.1|NP_003112.2	Q01892	SPIB_HUMAN	Spi-B transcription factor (Spi-1/PU.1 related)	141					cell differentiation (GO:0030154)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(8)	14		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00757)|GBM - Glioblastoma multiforme(134;0.0186)		AGCCCTGCCCTGGAGGTCTCG	0.667																																						ENST00000595883.1																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(8)	14						c.(421-423)cTg>cGg		Spi-B transcription factor (Spi-1/PU.1 related)							62	55	57					19																	50926944		2203	4300	6503	SO:0001583	missense	6689				regulation of transcription from RNA polymerase II promoter	cytoplasm|microtubule cytoskeleton|nucleus	sequence-specific DNA binding	g.chr19:50926944T>G		CCDS33080.1, CCDS58674.1, CCDS59412.1	19q13.3-q13.4	2008-07-22				ENSG00000269404			11242	protein-coding gene	gene with protein product		606802				1406622	Standard	NM_003121		Approved	SPI-B	uc002psd.3	Q01892		ENST00000595883.1:c.422T>G	19.37:g.50926944T>G	ENSP00000471921:p.Leu141Arg					SPIB_ENST00000270632.7_Missense_Mutation_p.L141R|SPIB_ENST00000439922.2_Missense_Mutation_p.L50R|SPIB_ENST00000596074.1_Silent_p.P69P|SPIB_ENST00000597855.1_Silent_p.P129P	p.L141R	NM_001243999.1|NM_001244000.1|NM_003121.4	NP_001230928.1|NP_001230929.1|NP_003112.2	Q01892	SPIB_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00757)|GBM - Glioblastoma multiforme(134;0.0186)	5	447	+		all_neural(266;0.131)	141					A8K9C9|B4DUG6|Q15359	Missense_Mutation	SNP	ENST00000595883.1	37	c.422T>G	CCDS33080.1	.	.	.	.	.	.	.	.	.	.	.	18.63	3.664772	0.67700	.	.	ENSG00000142539	ENST00000270632;ENST00000439922	T;T	0.61859	0.07;1.78	4.03	4.03	0.46877	.	0.176545	0.25978	N	0.027095	T	0.70020	0.3176	M	0.63843	1.955	0.38404	D	0.945753	D;D;D	0.76494	0.995;0.999;0.995	D;D;D	0.87578	0.979;0.998;0.979	T	0.74318	-0.3704	10	0.72032	D	0.01	-7.1018	9.5165	0.39109	0.0:0.0:0.0:1.0	.	50;141;141	B4DUG6;Q01892-2;Q01892	.;.;SPIB_HUMAN	R	141;50	ENSP00000270632:L141R;ENSP00000391877:L50R	ENSP00000270632:L141R	L	+	2	0	SPIB	55618756	1.000000	0.71417	0.989000	0.46669	0.906000	0.53458	2.773000	0.47686	1.818000	0.53035	0.379000	0.24179	CTG		0.667	SPIB-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000464744.1	NM_003121		13	24	0	0	0	1	0	13	24					G	50926944	T	G	50926944	3	3	315	1	0	0	0	0	1	0	0	0	15049	1580	55	5	440	5	SPIB	19	50926944	Missense_Mutation	SNP	T	TCGA-KK-A6E4-01A-11D-A30E-08	30198274	50926944	8202039	44	16213											
ZNF432	9668	broad.mit.edu	37	chr19	52537922	52537922	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcttctctcctgtatgagttCgctgatgtataataagcatg	9	15	9	8	1	1	2	0	2	1	0	4	2	2	2	1	0	1	6	1	0	4	6	rs374713969		TCGA-KK-A6E4-01A-11D-A30E-08	TCGA-KK-A6E4-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40596942-42c7-4514-8bf8-a5290015cfd8	03842b93-be03-4e34-a1c4-c29aa2f3a1ec	g.chr19:52537922C>A	ENST00000594154.1	-	5	1222	c.1010G>T	c.(1009-1011)cGa>cTa	p.R337L	ZNF432_ENST00000221315.5_Missense_Mutation_p.R337L			O94892	ZN432_HUMAN	zinc finger protein 432	337					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	29		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.0054)|OV - Ovarian serous cystadenocarcinoma(262;0.0182)		TGTATGAGTTCGCTGATGTAT	0.408																																						ENST00000594154.1																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	29						c.(1009-1011)cGa>cTa		zinc finger protein 432							116	104	108					19																	52537922		2203	4300	6503	SO:0001583	missense	9668				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52537922C>A	AB018341	CCDS12848.1	19q13.41	2013-01-08				ENSG00000256087		"Zinc fingers, C2H2-type", "-"	20810	protein-coding gene	gene with protein product						9872452	Standard	NM_014650		Approved	KIAA0798	uc002pyk.3	O94892		ENST00000594154.1:c.1010G>T	19.37:g.52537922C>A	ENSP00000470488:p.Arg337Leu					ZNF432_ENST00000221315.5_Missense_Mutation_p.R337L	p.R337L			O94892	ZN432_HUMAN		GBM - Glioblastoma multiforme(134;0.0054)|OV - Ovarian serous cystadenocarcinoma(262;0.0182)	5	1222	-		all_neural(266;0.117)	337						Missense_Mutation	SNP	ENST00000594154.1	37	c.1010G>T	CCDS12848.1	.	.	.	.	.	.	.	.	.	.	C	16.43	3.122454	0.56613	.	.	ENSG00000256087	ENST00000221315	T	0.25085	1.82	2.9	2.9	0.33743	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.31638	0.0803	L	0.28054	0.825	0.24748	N	0.992995	D	0.65815	0.995	P	0.59948	0.866	T	0.07347	-1.0777	9	0.72032	D	0.01	.	9.9255	0.41489	0.0:0.7895:0.2105:0.0	.	337	O94892	ZN432_HUMAN	L	337	ENSP00000221315:R337L	ENSP00000221315:R337L	R	-	2	0	ZNF432	57229734	0.000000	0.05858	1.000000	0.80357	0.991000	0.79684	0.048000	0.14078	1.630000	0.50440	0.585000	0.79938	CGA		0.408	ZNF432-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462410.1	NM_014650		4	124	1	0	0.150653	1	0.150653	4	124					A	52537922	C	A	52537922	3	1	315	1	0	0	0	0	1	0	0	0	17903	884	31	5	952	5	ZNF432	19	52537922	Missense_Mutation	SNP	C	TCGA-KK-A6E4-01A-11D-A30E-08	1610978	52537922	6591061	45	16214											
PPP2R1A	5518	broad.mit.edu	37	chr19	52723057	52723057	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attgtggagctggctgaggaCgccaagtggcgggtgcggct	6	8	19	8	3	0	1	0	1	0	0	0	3	0	3	1	6	2	3	1	6	1	1	rs139139629		TCGA-KK-A6E4-01A-11D-A30E-08	TCGA-KK-A6E4-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40596942-42c7-4514-8bf8-a5290015cfd8	03842b93-be03-4e34-a1c4-c29aa2f3a1ec	g.chr19:52723057C>T	ENST00000322088.6	+	10	1300	c.1242C>T	c.(1240-1242)gaC>gaT	p.D414D	PPP2R1A_ENST00000462990.1_Silent_p.D235D|PPP2R1A_ENST00000444322.2_Silent_p.D359D|CTD-2525I3.3_ENST00000593857.1_RNA	NM_014225.5	NP_055040.2	P30153	2AAA_HUMAN	protein phosphatase 2, regulatory subunit A, alpha	414	PP2A subunit C binding.				apoptotic process (GO:0006915)|ceramide metabolic process (GO:0006672)|chromosome segregation (GO:0007059)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|inactivation of MAPK activity (GO:0000188)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope reassembly (GO:0007084)|mRNA metabolic process (GO:0016071)|negative regulation of cell growth (GO:0030308)|negative regulation of tyrosine phosphorylation of Stat3 protein (GO:0042518)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|peptidyl-serine dephosphorylation (GO:0070262)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|protein complex assembly (GO:0006461)|protein dephosphorylation (GO:0006470)|regulation of cell adhesion (GO:0030155)|regulation of cell differentiation (GO:0045595)|regulation of DNA replication (GO:0006275)|regulation of growth (GO:0040008)|regulation of transcription, DNA-templated (GO:0006355)|regulation of Wnt signaling pathway (GO:0030111)|response to organic substance (GO:0010033)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|second-messenger-mediated signaling (GO:0019932)	chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein phosphatase type 2A complex (GO:0000159)	antigen binding (GO:0003823)|protein heterodimerization activity (GO:0046982)|protein phosphatase type 2A regulator activity (GO:0008601)|protein serine/threonine phosphatase activity (GO:0004722)			NS(1)|breast(4)|cervix(2)|endometrium(62)|kidney(1)|large_intestine(7)|lung(21)|ovary(32)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	135				GBM - Glioblastoma multiforme(134;0.00456)|OV - Ovarian serous cystadenocarcinoma(262;0.015)		TGGCTGAGGACGCCAAGTGGC	0.627			Mis		clear cell ovarian carcinoma								C|||	1	0.000199681	8e-04	0	5008	,	,		18148	0		0	False		,,,				2504	0					ENST00000322088.6				Dom?	yes		19	19q13.41	5518	Mis	"protein phosphatase 2, regulatory subunit A, alpha"			E			clear cell ovarian carcinoma		0				NS(1)|breast(4)|cervix(2)|endometrium(62)|kidney(1)|large_intestine(7)|lung(21)|ovary(32)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	135						c.(1240-1242)gaC>gaT		protein phosphatase 2, regulatory subunit A, alpha		C		0,4406		0,0,2203	64	57	59		1242	-6.6	0.9	19	dbSNP_134	59	6,8594	5.0+/-18.6	1,4,4295	no	coding-synonymous	PPP2R1A	NM_014225.5		1,4,6498	TT,TC,CC		0.0698,0.0,0.0461		414/590	52723057	6,13000	2203	4300	6503	SO:0001819	synonymous_variant	5518				ceramide metabolic process|chromosome segregation|G2/M transition of mitotic cell cycle|inactivation of MAPK activity|induction of apoptosis|negative regulation of cell growth|negative regulation of tyrosine phosphorylation of Stat3 protein|protein complex assembly|protein dephosphorylation|regulation of cell adhesion|regulation of cell differentiation|regulation of DNA replication|regulation of transcription, DNA-dependent|regulation of Wnt receptor signaling pathway|response to organic substance|RNA splicing|second-messenger-mediated signaling	chromosome, centromeric region|cytosol|membrane|microtubule cytoskeleton|mitochondrion|nucleus|protein phosphatase type 2A complex|soluble fraction	antigen binding|protein heterodimerization activity|protein phosphatase type 2A regulator activity	g.chr19:52723057C>T		CCDS12849.1	19q13	2010-06-18	2010-04-14		ENSG00000105568	ENSG00000105568	3.1.3.16	"Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"	9302	protein-coding gene	gene with protein product	"protein phosphatase 2A, regulatory subunit A, alpha isoform", "protein phosphatase 2, 65kDa regulatory subunit A"	605983	"protein phosphatase 2 (formerly 2A), regulatory subunit A (PR 65), alpha isoform", "protein phosphatase 2 (formerly 2A), regulatory subunit A, alpha isoform"				Standard	NR_033500		Approved	PR65A, PP2A-Aalpha	uc002pyp.3	P30153	OTTHUMG00000137367	ENST00000322088.6:c.1242C>T	19.37:g.52723057C>T						PPP2R1A_ENST00000462990.1_Silent_p.D235D|PPP2R1A_ENST00000444322.2_Silent_p.D359D	p.D414D	NM_014225.5	NP_055040.2	P30153	2AAA_HUMAN		GBM - Glioblastoma multiforme(134;0.00456)|OV - Ovarian serous cystadenocarcinoma(262;0.015)	10	1300	+			414			PP2A subunit C binding.		Q13773|Q6ICQ3|Q96DH3	Silent	SNP	ENST00000322088.6	37	c.1242C>T	CCDS12849.1																																																																																				0.627	PPP2R1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000267967.2	NM_014225		23	46	0	0	0	1	0	23	46					T	52723057	C	T	52723057	2	4	315	1	0	0	0	0	0	0	0	1	12382	535	19	1		1	PPP2R1A	19	52723057	Silent	SNP	C	TCGA-KK-A6E4-01A-11D-A30E-08	185135	52723057	6405926	46	16215											
GNB1L	54584	broad.mit.edu	37	chr22	19789726	19789726	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cggccagaaggagtgggcggGagctgcagtcggcctgcggg	6	4	21	10	4	0	1	0	0	0	1	1	3	0	3	2	6	3	2	2	6	1	0			TCGA-KK-A6E4-01A-11D-A30E-08	TCGA-KK-A6E4-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40596942-42c7-4514-8bf8-a5290015cfd8	03842b93-be03-4e34-a1c4-c29aa2f3a1ec	g.chr22:19789726G>T	ENST00000329517.6	-	7	766	c.530C>A	c.(529-531)tCc>tAc	p.S177Y	GNB1L_ENST00000403325.1_Missense_Mutation_p.S177Y|GNB1L_ENST00000460402.1_5'UTR|GNB1L_ENST00000405009.1_Missense_Mutation_p.S177Y	NM_053004.2	NP_443730.1	Q9BYB4	GNB1L_HUMAN	guanine nucleotide binding protein (G protein), beta polypeptide 1-like	177					G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|social behavior (GO:0035176)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)				breast(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(3)|skin(1)	12	Colorectal(54;0.0993)					GAGTGGGCGGGAGCTGCAGTC	0.637																																						ENST00000329517.6																			0				breast(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(3)|skin(1)	12						c.(529-531)tCc>tAc		guanine nucleotide binding protein (G protein), beta polypeptide 1-like							37	36	36					22																	19789726		2202	4300	6502	SO:0001583	missense	0				G-protein coupled receptor protein signaling pathway|intracellular signal transduction	internal side of plasma membrane|intracellular		g.chr22:19789726G>T	AF238328	CCDS13768.1	22q11.2	2013-05-21			ENSG00000185838	ENSG00000185838		"WD repeat domain containing"	4397	protein-coding gene	gene with protein product		610778				11072084	Standard	NM_053004		Approved	GY2, WDR14	uc002zqf.1	Q9BYB4	OTTHUMG00000150279	ENST00000329517.6:c.530C>A	22.37:g.19789726G>T	ENSP00000331313:p.Ser177Tyr					GNB1L_ENST00000405009.1_Missense_Mutation_p.S177Y|GNB1L_ENST00000403325.1_Missense_Mutation_p.S177Y|GNB1L_ENST00000460402.1_5'UTR	p.S177Y	NM_053004.2	NP_443730.1	Q9BYB4	GNB1L_HUMAN			7	766	-	Colorectal(54;0.0993)		177					Q9H2S2|Q9H4M4	Missense_Mutation	SNP	ENST00000329517.6	37	c.530C>A	CCDS13768.1	.	.	.	.	.	.	.	.	.	.	G	10.17	1.276665	0.23307	.	.	ENSG00000185838	ENST00000329517;ENST00000403325;ENST00000405009	T;T;T	0.19938	2.11;2.11;4.92	5.46	3.32	0.38043	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.742669	0.12113	U	0.498302	T	0.23492	0.0568	L	0.49778	1.585	0.35104	D	0.765492	P	0.35208	0.49	B	0.38056	0.264	T	0.26467	-1.0102	10	0.87932	D	0	-17.0595	10.4204	0.44346	0.0739:0.1355:0.7906:0.0	.	177	Q9BYB4	GNB1L_HUMAN	Y	177	ENSP00000331313:S177Y;ENSP00000385154:S177Y;ENSP00000384626:S177Y	ENSP00000331313:S177Y	S	-	2	0	GNB1L	18169726	0.999000	0.42202	0.656000	0.29637	0.365000	0.29674	2.699000	0.47077	0.737000	0.32582	0.561000	0.74099	TCC		0.637	GNB1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075202.1			14	65	1	0	1.05317e-09	1	1.16212e-09	14	65					T	19789726	G	T	19789726	3	4	315	1	0	0	0	0	1	0	0	0	6516	1174	41	5	461	5	GNB1L	22	19789726	Missense_Mutation	SNP	G	TCGA-KK-A6E4-01A-11D-A30E-08		19789726	31514840	47	16216											
PI4KA	5297	broad.mit.edu	37	chr22	21083999	21083999	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ggttggttttcttagacatgCctaggaggaaagacaaagca	13	10	12	6	0	1	2	0	0	1	2	1	4	1	4	1	4	2	3	1	4	4	5			TCGA-KK-A6E4-01A-11D-A30E-08	TCGA-KK-A6E4-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40596942-42c7-4514-8bf8-a5290015cfd8	03842b93-be03-4e34-a1c4-c29aa2f3a1ec	g.chr22:21083999C>A	ENST00000572273.1	-	38	4465	c.4235G>T	c.(4234-4236)gGc>gTc	p.G1412V	PI4KA_ENST00000255882.6_Splice_Site_p.G1470V|PI4KA_ENST00000414196.3_Splice_Site_p.G222V			P42356	PI4KA_HUMAN	phosphatidylinositol 4-kinase, catalytic, alpha	1412					phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi-associated vesicle membrane (GO:0030660)|membrane (GO:0016020)|plasma membrane (GO:0005886)	1-phosphatidylinositol 4-kinase activity (GO:0004430)|ATP binding (GO:0005524)			breast(3)|endometrium(8)|kidney(9)|large_intestine(19)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|salivary_gland(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	79	all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)			CTTAGACATGCCTAGGAGGAA	0.537																																					GBM(136;1332 1831 3115 23601 50806)	ENST00000255882.6																			0				breast(3)|endometrium(8)|kidney(9)|large_intestine(19)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|salivary_gland(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	79						c.e38-1		phosphatidylinositol 4-kinase, catalytic, alpha							47	48	48					22																	21083999		2202	4299	6501	SO:0001630	splice_region_variant	5297				phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|synaptic transmission	Golgi-associated vesicle	1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding	g.chr22:21083999C>A	L36151	CCDS33603.1, CCDS33603.2	22q11.21	2011-05-25	2007-08-14	2007-08-02	ENSG00000241973	ENSG00000241973			8983	protein-coding gene	gene with protein product		600286		PIK4CA		7961848, 8662589	Standard	NM_002650		Approved	PI4K-ALPHA, pi4K230	uc002zsz.5	P42356	OTTHUMG00000167440	ENST00000572273.1:c.4235-1G>T	22.37:g.21083999C>A						PI4KA_ENST00000414196.3_Splice_Site_p.G222_splice|PI4KA_ENST00000572273.1_Splice_Site_p.G1412_splice	p.G1470_splice	NM_058004.3	NP_477352.3	P42356	PI4KA_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)		38	4495	-	all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	1412					Q7Z625|Q9UPG2	Splice_Site	SNP	ENST00000572273.1	37	c.4408_splice		.	.	.	.	.	.	.	.	.	.	C	20.5	4.004989	0.74932	.	.	ENSG00000241973	ENST00000255882;ENST00000414196	T	0.76709	-1.04	5.15	5.15	0.70609	.	0.000000	0.85682	D	0.000000	T	0.75250	0.3824	M	0.62723	1.935	0.80722	D	1	P	0.38395	0.629	B	0.37239	0.244	T	0.72534	-0.4264	10	0.16896	T	0.51	.	18.8111	0.92058	0.0:1.0:0.0:0.0	.	1412	P42356	PI4KA_HUMAN	V	1412;222	ENSP00000402981:G222V	ENSP00000255882:G1412V	G	-	2	0	PI4KA	19413999	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.539000	0.82063	2.687000	0.91594	0.563000	0.77884	GGC		0.537	PI4KA-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_058004	Missense_Mutation	4	6	1	0	4.096e-09	1	4.44312e-09	4	6					A	21083999	C	A	21083999	5	1	315	1	0	0	0	0	0	0	1	0	11873	753	26	5	1971	5	PI4KA	22	21083999	Splice_Site	SNP	C	TCGA-KK-A6E4-01A-11D-A30E-08	1294273	21083999	30220567	48	16217											
CYTSA	23384	broad.mit.edu	37	chr22	24717686	24717686	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gagtccactttattgcagttGcaggaacagaatactgccat	12	11	9	9	0	0	1	0	0	0	1	1	3	1	2	2	1	5	3	2	1	4	5			TCGA-KK-A6E4-01A-11D-A30E-08	TCGA-KK-A6E4-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40596942-42c7-4514-8bf8-a5290015cfd8	03842b93-be03-4e34-a1c4-c29aa2f3a1ec	g.chr22:24717686G>A	ENST00000314328.9	+	5	1023	c.738G>A	c.(736-738)ttG>ttA	p.L246L	SPECC1L_ENST00000416735.1_Intron|SPECC1L_ENST00000541492.1_Silent_p.L246L|SPECC1L-ADORA2A_ENST00000358654.2_Silent_p.L246L|SPECC1L_ENST00000437398.1_Silent_p.L246L	NM_001254733.1|NM_015330.3	NP_001241662.1|NP_056145	Q69YQ0	CYTSA_HUMAN	sperm antigen with calponin homology and coiled-coil domains 1-like	246					actin cytoskeleton organization (GO:0030036)|cell cycle (GO:0007049)|cell division (GO:0051301)|cell migration (GO:0016477)|negative regulation of actin filament depolymerization (GO:0030835)|negative regulation of microtubule depolymerization (GO:0007026)	cytoplasm (GO:0005737)|filamentous actin (GO:0031941)|gap junction (GO:0005921)|microtubule organizing center (GO:0005815)				breast(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(6)|ovary(1)|prostate(1)|skin(3)|stomach(2)|urinary_tract(1)	27						TATTGCAGTTGCAGGAACAGA	0.433																																						ENST00000314328.9																			0				breast(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(6)|ovary(1)|prostate(1)|skin(3)|stomach(2)|urinary_tract(1)	27						c.(736-738)ttG>ttA		sperm antigen with calponin homology and coiled-coil domains 1-like							119	121	121					22																	24717686		2203	4300	6503	SO:0001819	synonymous_variant	23384				cell cycle|cell division			g.chr22:24717686G>A	AK025531	CCDS33619.1, CCDS58797.1	22q11.23	2012-12-20	2010-09-17	2010-09-17	ENSG00000100014	ENSG00000100014			29022	protein-coding gene	gene with protein product	"cytokinesis and spindle organization A", "cytospin A"	614140	"SPECC1-like"			9205841	Standard	NM_001254733		Approved	KIAA0376, CYTSA	uc002zzv.4	Q69YQ0	OTTHUMG00000171450	ENST00000314328.9:c.738G>A	22.37:g.24717686G>A						SPECC1L_ENST00000416735.1_Intron|SPECC1L_ENST00000541492.1_Silent_p.L246L|KB-1896H10.1_ENST00000358654.2_Silent_p.L246L|SPECC1L_ENST00000437398.1_Silent_p.L246L	p.L246L	NM_001254733.1|NM_015330.3	NP_001241662.1|NP_056145.3	Q69YQ0	CYTSA_HUMAN			5	1023	+			246					B7Z758|F5H1H6|O15081	Silent	SNP	ENST00000314328.9	37	c.738G>A	CCDS33619.1																																																																																				0.433	SPECC1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319986.2	NM_015330		39	145	0	0	0	1	0	39	145					A	24717686	G	A	24717686	2	1	315	1	0	0	0	0	0	0	0	1	4209	1310	46	3		3	CYTSA	22	24717686	Silent	SNP	G	TCGA-KK-A6E4-01A-11D-A30E-08	3633687	24717686	26586880	49	16218											
SESN2	83667	broad.mit.edu	37	chr1	28598206	28598206	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccttcgggagggggctgagAgcctcgagcagcacctgggg	6	6	18	11	2	0	1	0	1	0	1	3	4	1	2	3	5	3	3	3	5	0	1			TCGA-KK-A6E5-01A-11D-A30X-08	TCGA-KK-A6E5-11A-12D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a313eac-afe7-4317-ae67-a2eba7cd821f	ae48940c-acd7-4556-ac88-e791eda0f5d0	g.chr1:28598206A>C	ENST00000253063.3	+	3	499	c.178A>C	c.(178-180)Agc>Cgc	p.S60R		NM_031459.4	NP_113647.1	P58004	SESN2_HUMAN	sestrin 2	60					autophagy (GO:0006914)|fatty acid beta-oxidation (GO:0006635)|glucose import (GO:0046323)|mitochondrial DNA metabolic process (GO:0032042)|protein kinase B signaling (GO:0043491)|regulation of cAMP-dependent protein kinase activity (GO:2000479)|regulation of gluconeogenesis involved in cellular glucose homeostasis (GO:0090526)|regulation of response to reactive oxygen species (GO:1901031)|response to glucose (GO:0009749)|response to insulin (GO:0032868)|triglyceride homeostasis (GO:0070328)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				cervix(1)|endometrium(3)|large_intestine(5)|lung(7)|ovary(2)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	27		Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;4.76e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)		OV - Ovarian serous cystadenocarcinoma(117;2.98e-22)|Colorectal(126;3.04e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00279)|STAD - Stomach adenocarcinoma(196;0.00303)|BRCA - Breast invasive adenocarcinoma(304;0.00595)|READ - Rectum adenocarcinoma(331;0.0649)		GGGGGCTGAGAGCCTCGAGCA	0.592																																						ENST00000253063.3																			0				cervix(1)|endometrium(3)|large_intestine(5)|lung(7)|ovary(2)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	27						c.(178-180)Agc>Cgc		sestrin 2							61	61	61					1																	28598206		2203	4300	6503	SO:0001583	missense	83667				cell cycle arrest	cytoplasm|nucleus		g.chr1:28598206A>C	AY123223	CCDS321.1	1p35.2	2008-02-05			ENSG00000130766	ENSG00000130766			20746	protein-coding gene	gene with protein product		607767				12607115, 12203114	Standard	NM_031459		Approved	SES2, DKFZp761M0212, HI95, SEST2	uc001bps.3	P58004	OTTHUMG00000003532	ENST00000253063.3:c.178A>C	1.37:g.28598206A>C	ENSP00000253063:p.Ser60Arg						p.S60R	NM_031459.4	NP_113647.1	P58004	SESN2_HUMAN		OV - Ovarian serous cystadenocarcinoma(117;2.98e-22)|Colorectal(126;3.04e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00279)|STAD - Stomach adenocarcinoma(196;0.00303)|BRCA - Breast invasive adenocarcinoma(304;0.00595)|READ - Rectum adenocarcinoma(331;0.0649)	3	499	+		Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;4.76e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)	60					Q5T7D0|Q96SI5	Missense_Mutation	SNP	ENST00000253063.3	37	c.178A>C	CCDS321.1	.	.	.	.	.	.	.	.	.	.	A	12.87	2.068657	0.36470	.	.	ENSG00000130766	ENST00000253063	T	0.23147	1.92	5.08	5.08	0.68730	.	0.260649	0.40640	N	0.001059	T	0.17066	0.0410	L	0.29908	0.895	0.32161	N	0.582942	B	0.09022	0.002	B	0.10450	0.005	T	0.08371	-1.0725	10	0.49607	T	0.09	-29.5143	5.6031	0.17365	0.7377:0.1742:0.088:0.0	.	60	P58004	SESN2_HUMAN	R	60	ENSP00000253063:S60R	ENSP00000253063:S60R	S	+	1	0	SESN2	28470793	1.000000	0.71417	1.000000	0.80357	0.589000	0.36550	2.312000	0.43726	2.049000	0.60858	0.533000	0.62120	AGC		0.592	SESN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009840.1			5	61	0	0	0	1	0	5	61					C	28598206	A	C	28598206	3	2	316	1	0	0	0	0	1	0	0	0	14125	304	11	5	188	5	SESN2	1	28598206	Missense_Mutation	SNP	A	TCGA-KK-A6E5-01A-11D-A30X-08		28598206	220652415	1	16219											
ELOVL1	64834	broad.mit.edu	37	chr1	43830879	43830879	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catagacaatgtagagggagAgtgccaccagtgagaagttg	14	7	14	6	0	0	4	0	1	0	4	0	6	0	4	2	1	1	2	2	1	4	3			TCGA-KK-A6E5-01A-11D-A30X-08	TCGA-KK-A6E5-11A-12D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a313eac-afe7-4317-ae67-a2eba7cd821f	ae48940c-acd7-4556-ac88-e791eda0f5d0	g.chr1:43830879A>T	ENST00000372458.3	-	3	332	c.215T>A	c.(214-216)cTc>cAc	p.L72H	ELOVL1_ENST00000470769.1_5'UTR|ELOVL1_ENST00000413844.2_Missense_Mutation_p.L72H	NM_001256399.1|NM_001256402.1|NM_022821.3	NP_001243328.1|NP_001243331.1|NP_073732.1	Q9BW60	ELOV1_HUMAN	ELOVL fatty acid elongase 1	72					cellular lipid metabolic process (GO:0044255)|fatty acid elongation, monounsaturated fatty acid (GO:0034625)|fatty acid elongation, saturated fatty acid (GO:0019367)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|triglyceride biosynthetic process (GO:0019432)|very long-chain fatty acid biosynthetic process (GO:0042761)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)	fatty acid elongase activity (GO:0009922)			endometrium(1)|kidney(1)|large_intestine(1)|prostate(1)	4	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				GTAGAGGGAGAGTGCCACCAG	0.532																																						ENST00000372458.3																			0				endometrium(1)|kidney(1)|large_intestine(1)|prostate(1)	4						c.(214-216)cTc>cAc		ELOVL fatty acid elongase 1							65	61	62					1																	43830879		2203	4300	6503	SO:0001583	missense	64834				fatty acid elongation, monounsaturated fatty acid|fatty acid elongation, saturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|sphingolipid biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process	integral to endoplasmic reticulum membrane	fatty acid elongase activity|protein binding	g.chr1:43830879A>T	AK001653	CCDS485.1, CCDS57987.1	1p34	2011-05-25	2011-05-25		ENSG00000066322	ENSG00000066322			14418	protein-coding gene	gene with protein product		611813	"elongation of very long chain fatty acids (FEN1/Elo2, SUR4/Elo3, yeast)-like 1"				Standard	NM_022821		Approved	Ssc1	uc031pmf.1	Q9BW60	OTTHUMG00000007422	ENST00000372458.3:c.215T>A	1.37:g.43830879A>T	ENSP00000361536:p.Leu72His					ELOVL1_ENST00000470769.1_5'UTR|ELOVL1_ENST00000413844.2_Missense_Mutation_p.L72H	p.L72H	NM_001256399.1|NM_001256402.1|NM_022821.3	NP_001243328.1|NP_001243331.1|NP_073732.1	Q9BW60	ELOV1_HUMAN			3	332	-	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)	72					B4DP24|Q53HT2|Q5JUY3|Q8WXU3|Q9NVD9|Q9Y396	Missense_Mutation	SNP	ENST00000372458.3	37	c.215T>A	CCDS485.1	.	.	.	.	.	.	.	.	.	.	A	20.8	4.053918	0.75960	.	.	ENSG00000066322	ENST00000372458;ENST00000413844	T;T	0.26660	1.72;1.72	5.95	5.95	0.96441	.	0.297473	0.37857	N	0.001911	T	0.66086	0.2754	H	0.96970	3.915	0.53005	D	0.999965	D;D	0.76494	0.999;0.993	D;D	0.72982	0.979;0.954	T	0.78788	-0.2067	10	0.87932	D	0	-8.2108	16.4159	0.83738	1.0:0.0:0.0:0.0	.	72;72	B4DP24;Q9BW60	.;ELOV1_HUMAN	H	72	ENSP00000361536:L72H;ENSP00000416024:L72H	ENSP00000361536:L72H	L	-	2	0	ELOVL1	43603466	1.000000	0.71417	0.983000	0.44433	0.926000	0.56050	8.962000	0.93254	2.279000	0.76181	0.533000	0.62120	CTC		0.532	ELOVL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019496.1	NM_022821		12	24	0	0	0	1	0	12	24					T	43830879	A	T	43830879	3	4	316	1	0	0	0	0	1	0	0	0	5073	304	11	5	648	5	ELOVL1	1	43830879	Missense_Mutation	SNP	A	TCGA-KK-A6E5-01A-11D-A30X-08	15232673	43830879	205419742	2	16220											
SCYL3	57147	broad.mit.edu	37	chr1	169839411	169839411	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctcaccctgttcatttaagaTtgtgagcaaactttccacca	11	13	5	12	0	2	2	2	1	0	1	3	2	3	2	3	0	2	2	3	0	2	5	rs571139149		TCGA-KK-A6E5-01A-11D-A30X-08	TCGA-KK-A6E5-11A-12D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a313eac-afe7-4317-ae67-a2eba7cd821f	ae48940c-acd7-4556-ac88-e791eda0f5d0	g.chr1:169839411T>G	ENST00000367770.1	-	5	657	c.610A>C	c.(610-612)Atc>Ctc	p.I204L	SCYL3_ENST00000470238.1_5'UTR|SCYL3_ENST00000367772.4_Missense_Mutation_p.I204L|SCYL3_ENST00000367771.6_Missense_Mutation_p.I204L			Q8IZE3	PACE1_HUMAN	SCY1-like 3 (S. cerevisiae)	204	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell migration (GO:0016477)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)	ATP binding (GO:0005524)|transferase activity, transferring phosphorus-containing groups (GO:0016772)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(5)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					TCATTTAAGATTGTGAGCAAA	0.408																																						ENST00000367772.4																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(5)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27						c.(610-612)Atc>Ctc		SCY1-like 3 (S. cerevisiae)							113	111	111					1																	169839411		2203	4300	6503	SO:0001583	missense	57147				cell migration	Golgi apparatus|lamellipodium	ATP binding|protein binding|protein kinase activity	g.chr1:169839411T>G	BC014662	CCDS1286.1, CCDS1287.1	1q24.2	2008-02-05			ENSG00000000457	ENSG00000000457			19285	protein-coding gene	gene with protein product	"ezrin-binding partner PACE-1"	608192				12651155	Standard	NM_020423		Approved	PACE-1, PACE1	uc001ggs.3	Q8IZE3	OTTHUMG00000035941	ENST00000367770.1:c.610A>C	1.37:g.169839411T>G	ENSP00000356744:p.Ile204Leu					SCYL3_ENST00000367771.5_Missense_Mutation_p.I204L|SCYL3_ENST00000367770.1_Missense_Mutation_p.I204L|SCYL3_ENST00000470238.1_5'UTR	p.I204L	NM_181093.3	NP_851607.2	Q8IZE3	PACE1_HUMAN			6	807	-	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)		204			Protein kinase.		A8K8Z2|Q5THA6|Q5THA8|Q8IZN9|Q96C56|Q9UBK6	Missense_Mutation	SNP	ENST00000367770.1	37	c.610A>C	CCDS1287.1	.	.	.	.	.	.	.	.	.	.	T	8.164	0.790090	0.16258	.	.	ENSG00000000457	ENST00000367772;ENST00000367771;ENST00000367770;ENST00000423670	T;T;T;T	0.72835	-0.69;-0.69;-0.69;-0.69	5.27	-6.66	0.01789	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	1.084680	0.06877	N	0.801811	T	0.15132	0.0365	N	0.02539	-0.55	0.09310	N	1	B;B	0.09022	0.001;0.002	B;B	0.11329	0.006;0.005	T	0.14755	-1.0461	10	0.11485	T	0.65	-0.3981	8.9292	0.35659	0.097:0.5707:0.0991:0.2333	.	204;204	Q8IZE3-2;Q8IZE3	.;PACE1_HUMAN	L	204	ENSP00000356746:I204L;ENSP00000356745:I204L;ENSP00000356744:I204L;ENSP00000407993:I204L	ENSP00000356744:I204L	I	-	1	0	SCYL3	168106035	0.000000	0.05858	0.001000	0.08648	0.996000	0.88848	-0.423000	0.07034	-1.450000	0.01936	0.455000	0.32223	ATC		0.408	SCYL3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087550.4	NM_181093		9	63	0	0	0	1	0	9	63					G	169839411	T	G	169839411	3	3	316	1	0	0	0	0	1	0	0	0	13949	1493	52	5	1654	5	SCYL3	1	169839411	Missense_Mutation	SNP	T	TCGA-KK-A6E5-01A-11D-A30X-08	126008532	169839411	79411210	3	16221											
FAM179A	165186	broad.mit.edu	37	chr2	29268261	29268261	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccgtgcggtgctggatgtcAcagatcgcctggcaggtgag	6	8	17	10	3	1	2	1	1	0	1	2	3	1	3	2	4	2	2	2	4	0	0			TCGA-KK-A6E5-01A-11D-A30X-08	TCGA-KK-A6E5-11A-12D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a313eac-afe7-4317-ae67-a2eba7cd821f	ae48940c-acd7-4556-ac88-e791eda0f5d0	g.chr2:29268261A>T	ENST00000379558.4	+	19	3058	c.2707A>T	c.(2707-2709)Aca>Tca	p.T903S	FAM179A_ENST00000465300.1_3'UTR|FAM179A_ENST00000403861.2_Missense_Mutation_p.T848S	NM_199280.2	NP_954974.2	Q6ZUX3	F179A_HUMAN	family with sequence similarity 179, member A	903										breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						GCTGGATGTCACAGATCGCCT	0.587																																						ENST00000379558.4																			0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						c.(2707-2709)Aca>Tca		family with sequence similarity 179, member A							86	84	85					2																	29268261		2203	4300	6503	SO:0001583	missense	165186						binding	g.chr2:29268261A>T	AK125239, AK125744	CCDS1769.2	2p23.2	2008-10-30			ENSG00000189350	ENSG00000189350			33715	protein-coding gene	gene with protein product						16344560	Standard	NM_199280		Approved	FLJ43249, LOC165186	uc010ezl.3	Q6ZUX3	OTTHUMG00000128432	ENST00000379558.4:c.2707A>T	2.37:g.29268261A>T	ENSP00000368876:p.Thr903Ser					FAM179A_ENST00000465300.1_3'UTR|FAM179A_ENST00000403861.2_Missense_Mutation_p.T848S	p.T903S	NM_199280.2	NP_954974.2	Q6ZUX3	F179A_HUMAN			19	3058	+			903					Q6ZUF5	Missense_Mutation	SNP	ENST00000379558.4	37	c.2707A>T	CCDS1769.2	.	.	.	.	.	.	.	.	.	.	A	17.32	3.359336	0.61403	.	.	ENSG00000189350	ENST00000379558;ENST00000403861	T;T	0.67865	-0.29;-0.29	5.33	5.33	0.75918	Armadillo-type fold (1);	0.000000	0.64402	D	0.000003	T	0.77458	0.4133	L	0.60455	1.87	0.32295	N	0.565774	D;D;D	0.65815	0.986;0.976;0.995	P;P;D	0.67900	0.783;0.787;0.954	T	0.80759	-0.1239	10	0.40728	T	0.16	.	15.1247	0.72472	1.0:0.0:0.0:0.0	.	848;903;201	F8W8E4;Q6ZUX3;Q6ZUX3-3	.;F179A_HUMAN;.	S	903;848	ENSP00000368876:T903S;ENSP00000384699:T848S	ENSP00000368876:T903S	T	+	1	0	FAM179A	29121765	0.998000	0.40836	0.942000	0.38095	0.310000	0.27922	2.663000	0.46774	2.237000	0.73441	0.459000	0.35465	ACA		0.587	FAM179A-003	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317848.4	NM_199280		11	80	0	0	0	1	0	11	80					T	29268261	A	T	29268261	3	4	316	1	0	0	0	0	1	0	0	0	5505	159	6	5	2777	5	FAM179A	2	29268261	Missense_Mutation	SNP	A	TCGA-KK-A6E5-01A-11D-A30X-08		29268261	213931112	4	16222											
WNT6	7475	broad.mit.edu	37	chr2	219735845	219735845	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gagttgtgccaggctgagccGgaagtggtggcagagctagc	8	7	18	8	1	0	2	0	1	0	1	0	4	0	3	2	4	4	4	2	4	2	2			TCGA-KK-A6E5-01A-11D-A30X-08	TCGA-KK-A6E5-11A-12D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a313eac-afe7-4317-ae67-a2eba7cd821f	ae48940c-acd7-4556-ac88-e791eda0f5d0	g.chr2:219735845G>A	ENST00000233948.3	+	2	394	c.177G>A	c.(175-177)ccG>ccA	p.P59P	WNT6_ENST00000486233.1_Intron	NM_006522.3	NP_006513.1	Q9Y6F9	WNT6_HUMAN	wingless-type MMTV integration site family, member 6	59					axis specification (GO:0009798)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell fate commitment (GO:0045165)|cellular response to retinoic acid (GO:0071300)|cornea development in camera-type eye (GO:0061303)|epithelial-mesenchymal cell signaling (GO:0060684)|nephron tubule formation (GO:0072079)|neuron differentiation (GO:0030182)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of gene expression (GO:0010628)|positive regulation of tooth mineralization (GO:0070172)|positive regulation of transcription, DNA-templated (GO:0045893)|Wnt signaling pathway (GO:0016055)	cell surface (GO:0009986)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)			large_intestine(1)|ovary(2)|skin(1)	4		Renal(207;0.0474)		Epithelial(149;4.53e-07)|all cancers(144;9.3e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AGGCTGAGCCGGAAGTGGTGG	0.687																																						ENST00000233948.3																			0				large_intestine(1)|ovary(2)|skin(1)	4						c.(175-177)ccG>ccA		wingless-type MMTV integration site family, member 6							49	61	57					2																	219735845		2203	4298	6501	SO:0001819	synonymous_variant	7475				anterior/posterior pattern formation|axis specification|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|cornea development in camera-type eye|neuron differentiation|odontogenesis of dentine-containing tooth|positive regulation of gene expression|positive regulation of tooth mineralization|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	G-protein-coupled receptor binding|signal transducer activity	g.chr2:219735845G>A	AF079522	CCDS2425.1	2q35	2008-05-23			ENSG00000115596	ENSG00000115596		"Wingless-type MMTV integration sites"	12785	protein-coding gene	gene with protein product		604663				10343101, 11350055	Standard	NM_006522		Approved		uc002vjc.1	Q9Y6F9	OTTHUMG00000133082	ENST00000233948.3:c.177G>A	2.37:g.219735845G>A						WNT6_ENST00000486233.1_Intron	p.P59P	NM_006522.3	NP_006513.1	Q9Y6F9	WNT6_HUMAN		Epithelial(149;4.53e-07)|all cancers(144;9.3e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	2	394	+		Renal(207;0.0474)	59					Q9H1J6|Q9H238	Silent	SNP	ENST00000233948.3	37	c.177G>A	CCDS2425.1																																																																																				0.687	WNT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256727.2	NM_006522		5	186	0	0	0	1	0	5	186					A	219735845	G	A	219735845	2	1	316	1	0	0	0	0	0	0	0	1	17390	1103	39	2		2	WNT6	2	219735845	Silent	SNP	G	TCGA-KK-A6E5-01A-11D-A30X-08	190467584	219735845	23463528	5	16223											
GIGYF2	26058	broad.mit.edu	37	chr2	233655777	233655777	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gacttccggcctgtggacgaAggggaggagtgctctgactc	7	8	16	10	2	1	1	0	1	1	0	3	6	2	4	2	5	1	1	2	5	1	1			TCGA-KK-A6E5-01A-11D-A30X-08	TCGA-KK-A6E5-11A-12D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a313eac-afe7-4317-ae67-a2eba7cd821f	ae48940c-acd7-4556-ac88-e791eda0f5d0	g.chr2:233655777A>T	ENST00000409547.1	+	13	1301	c.990A>T	c.(988-990)gaA>gaT	p.E330D	GIGYF2_ENST00000373566.3_Missense_Mutation_p.E352D|GIGYF2_ENST00000409480.1_Missense_Mutation_p.E352D|GIGYF2_ENST00000452341.2_Missense_Mutation_p.E161D|GIGYF2_ENST00000373563.4_Missense_Mutation_p.E330D|GIGYF2_ENST00000409451.3_Missense_Mutation_p.E352D|GIGYF2_ENST00000409196.3_Missense_Mutation_p.E324D	NM_015575.3	NP_056390.2	Q6Y7W6	PERQ2_HUMAN	GRB10 interacting GYF protein 2	330					adult locomotory behavior (GO:0008344)|cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|feeding behavior (GO:0007631)|homeostasis of number of cells within a tissue (GO:0048873)|insulin-like growth factor receptor signaling pathway (GO:0048009)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|musculoskeletal movement (GO:0050881)|negative regulation of translation (GO:0017148)|neuromuscular process controlling balance (GO:0050885)|post-embryonic development (GO:0009791)|spinal cord motor neuron differentiation (GO:0021522)	membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(17)|lung(11)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	63		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145)		CTGTGGACGAAGGGGAGGAGT	0.448																																						ENST00000373566.3																			0				NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(17)|lung(11)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	63						c.(1054-1056)gaA>gaT		GRB10 interacting GYF protein 2							64	67	66					2																	233655777		2203	4300	6503	SO:0001583	missense	26058				cell death		protein binding	g.chr2:233655777A>T	U80751	CCDS33401.1, CCDS46542.1, CCDS46543.1	2q37.1	2011-07-06	2008-02-11	2008-02-11	ENSG00000204120	ENSG00000204120		"Trinucleotide (CAG) repeat containing"	11960	protein-coding gene	gene with protein product	"GYF domain containing 2"	612003	"PERQ amino acid rich, with GYF domain 2", "PERQ amino acid rich, with GYF domain 3", "trinucleotide repeat containing 15", "Parkinson disease (autosomal recessive, early onset) 11"	PERQ2, PERQ3, TNRC15, PARK11		9225980, 9734811, 12771153, 18358451, 19279319	Standard	NM_015575		Approved	KIAA0642, GYF2	uc002vtk.4	Q6Y7W6	OTTHUMG00000153237	ENST00000409547.1:c.990A>T	2.37:g.233655777A>T	ENSP00000386537:p.Glu330Asp					GIGYF2_ENST00000409480.1_Missense_Mutation_p.E352D|GIGYF2_ENST00000409547.1_Missense_Mutation_p.E330D|GIGYF2_ENST00000452341.2_Missense_Mutation_p.E161D|GIGYF2_ENST00000409196.3_Missense_Mutation_p.E324D|GIGYF2_ENST00000373563.4_Missense_Mutation_p.E330D|GIGYF2_ENST00000409451.3_Missense_Mutation_p.E352D	p.E352D			Q6Y7W6	PERQ2_HUMAN		Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145)	12	1253	+		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)	330					A6H8W4|B9EG55|E9PBB0|O75137|Q7Z2Z8|Q7Z3I2|Q96HU4|Q9NV82	Missense_Mutation	SNP	ENST00000409547.1	37	c.1056A>T	CCDS33401.1	.	.	.	.	.	.	.	.	.	.	A	15.94	2.981417	0.53827	.	.	ENSG00000204120	ENST00000373566;ENST00000414511;ENST00000373563;ENST00000409480;ENST00000409547;ENST00000535418;ENST00000423659;ENST00000409196;ENST00000409451;ENST00000440945;ENST00000452341;ENST00000427649;ENST00000410033	T;T;T;T;T;T;T;T;T;D;D	0.86164	-0.95;-0.91;-0.95;-0.91;-1.1;-0.92;-0.95;-1.05;-0.94;-2.08;-2.03	5.24	-0.792	0.10925	.	0.000000	0.85682	D	0.000000	D	0.87362	0.6158	L	0.39245	1.2	0.41463	D	0.988059	P;P;D;P	0.63880	0.885;0.714;0.993;0.671	P;B;D;B	0.70016	0.733;0.376;0.967;0.28	T	0.82676	-0.0339	10	0.27082	T	0.32	-18.7064	10.9943	0.47567	0.7126:0.0:0.2874:0.0	.	161;352;330;324	E9PC50;A6H8W4;Q6Y7W6;E9PBB0	.;.;PERQ2_HUMAN;.	D	352;273;330;352;330;330;273;324;352;324;161;82;112	ENSP00000362667:E352D;ENSP00000362664:E330D;ENSP00000386765:E352D;ENSP00000386537:E330D;ENSP00000404195:E273D;ENSP00000387070:E324D;ENSP00000387170:E352D;ENSP00000410297:E324D;ENSP00000411505:E161D;ENSP00000398055:E82D;ENSP00000387276:E112D	ENSP00000362664:E330D	E	+	3	2	GIGYF2	233364021	0.999000	0.42202	0.999000	0.59377	0.992000	0.81027	1.350000	0.34010	-0.024000	0.13941	0.459000	0.35465	GAA		0.448	GIGYF2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000330316.2	NM_001103146		3	43	0	0	0	1	0	3	43					T	233655777	A	T	233655777	3	4	316	1	0	0	0	0	1	0	0	0	6378	69	3	5	1094	5	GIGYF2	2	233655777	Missense_Mutation	SNP	A	TCGA-KK-A6E5-01A-11D-A30X-08	13919932	233655777	9543596	6	16224											
FILIP1L	11259	broad.mit.edu	37	chr3	99569210	99569210	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gagagtagcattcttgtttgCttttgttgaaagcgtcttct	7	18	10	6	1	3	2	0	1	3	1	3	3	3	2	0	0	3	5	0	0	2	8			TCGA-KK-A6E5-01A-11D-A30X-08	TCGA-KK-A6E5-11A-12D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a313eac-afe7-4317-ae67-a2eba7cd821f	ae48940c-acd7-4556-ac88-e791eda0f5d0	g.chr3:99569210C>G	ENST00000354552.3	-	5	1780	c.1310G>C	c.(1309-1311)aGc>aCc	p.S437T	CMSS1_ENST00000421999.2_Intron|FILIP1L_ENST00000487087.1_Missense_Mutation_p.S13T|FILIP1L_ENST00000383694.2_Missense_Mutation_p.S197T|FILIP1L_ENST00000476723.1_Intron|FILIP1L_ENST00000331335.5_Missense_Mutation_p.S437T|FILIP1L_ENST00000471562.1_Missense_Mutation_p.S197T|CMSS1_ENST00000496116.1_Intron	NM_182909.2	NP_878913.2	Q4L180	FIL1L_HUMAN	filamin A interacting protein 1-like	437						cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	35						TTCTTGTTTGCTTTTGTTGAA	0.353																																						ENST00000331335.5																			0				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	35						c.(1309-1311)aGc>aCc		filamin A interacting protein 1-like							111	105	106					3																	99569210		1832	4076	5908	SO:0001583	missense	11259					cytoplasm|membrane|myosin complex|nucleus		g.chr3:99569210C>G		CCDS43117.1, CCDS43118.1, CCDS43119.1, CCDS63700.1, CCDS74969.1	3q12.1	2011-10-21			ENSG00000168386	ENSG00000168386			24589	protein-coding gene	gene with protein product	"downregulated in ovarian cancer 1", "GPBP-interacting protein of 130 kDa"	612993				8314147, 15935955, 21832087	Standard	NM_001282793		Approved	DOC-1, GIP130	uc003dtm.3	Q4L180	OTTHUMG00000159055	ENST00000354552.3:c.1310G>C	3.37:g.99569210C>G	ENSP00000346560:p.Ser437Thr					FILIP1L_ENST00000471562.1_Missense_Mutation_p.S197T|FILIP1L_ENST00000476723.1_Intron|CMSS1_ENST00000496116.1_Intron|FILIP1L_ENST00000383694.2_Missense_Mutation_p.S197T|FILIP1L_ENST00000354552.3_Missense_Mutation_p.S437T|FILIP1L_ENST00000487087.1_Missense_Mutation_p.S13T|CMSS1_ENST00000421999.2_Intron	p.S437T	NM_001042459.1	NP_001035924.1	Q4L180	FIL1L_HUMAN			5	1780	-			437					B2CNV7|B2CNV8|Q13597|Q2YDY5|Q6KFX5|Q6KFX6|Q6KFX7|Q8IUM3|Q8N6Z0	Missense_Mutation	SNP	ENST00000354552.3	37	c.1310G>C	CCDS43117.1	.	.	.	.	.	.	.	.	.	.	C	18.61	3.662111	0.67700	.	.	ENSG00000168386	ENST00000354552;ENST00000487087;ENST00000471562;ENST00000331335;ENST00000383694;ENST00000441620;ENST00000495625	T;T;T;T;T;T	0.46063	0.88;1.06;1.41;0.88;1.41;1.43	5.55	5.55	0.83447	.	0.000000	0.64402	D	0.000005	T	0.67961	0.2949	M	0.80982	2.52	0.47862	D	0.999533	D;D	0.71674	0.998;0.997	D;D	0.80764	0.994;0.985	T	0.67577	-0.5635	10	0.41790	T	0.15	-11.2569	19.4884	0.95039	0.0:1.0:0.0:0.0	.	437;437	Q4L180-2;Q4L180	.;FIL1L_HUMAN	T	437;13;197;437;197;183;197	ENSP00000346560:S437T;ENSP00000417774:S13T;ENSP00000419642:S197T;ENSP00000327880:S437T;ENSP00000373192:S197T;ENSP00000419874:S197T	ENSP00000327880:S437T	S	-	2	0	FILIP1L	101051900	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.972000	0.63756	2.598000	0.87819	0.655000	0.94253	AGC		0.353	FILIP1L-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000353069.1	NM_014890		5	53	0	0	0	1	0	5	53					G	99569210	C	G	99569210	3	3	316	1	0	0	0	0	1	0	0	0	5895	797	28	5	2126	5	FILIP1L	3	99569210	Missense_Mutation	SNP	C	TCGA-KK-A6E5-01A-11D-A30X-08		99569210	98453220	7	16225											
FILIP1L	11259	broad.mit.edu	37	chr3	99649664	99649664	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aataacaggtcatctcttgaGaggtcttctgcttggtggcc	8	13	11	9	0	4	1	1	1	3	1	5	2	4	1	1	4	2	1	1	4	2	4			TCGA-KK-A6E5-01A-11D-A30X-08	TCGA-KK-A6E5-11A-12D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a313eac-afe7-4317-ae67-a2eba7cd821f	ae48940c-acd7-4556-ac88-e791eda0f5d0	g.chr3:99649664G>C	ENST00000354552.3	-	2	671	c.201C>G	c.(199-201)ctC>ctG	p.L67L	CMSS1_ENST00000421999.2_Intron|FILIP1L_ENST00000398326.2_Silent_p.L67L|FILIP1L_ENST00000331335.5_Silent_p.L67L|CMSS1_ENST00000496116.1_Intron	NM_182909.2	NP_878913.2	Q4L180	FIL1L_HUMAN	filamin A interacting protein 1-like	67						cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	35						CATCTCTTGAGAGGTCTTCTG	0.512																																						ENST00000331335.5																			0				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	35						c.(199-201)ctC>ctG		filamin A interacting protein 1-like							148	138	142					3																	99649664		1933	4137	6070	SO:0001819	synonymous_variant	11259					cytoplasm|membrane|myosin complex|nucleus		g.chr3:99649664G>C		CCDS43117.1, CCDS43118.1, CCDS43119.1, CCDS63700.1, CCDS74969.1	3q12.1	2011-10-21			ENSG00000168386	ENSG00000168386			24589	protein-coding gene	gene with protein product	"downregulated in ovarian cancer 1", "GPBP-interacting protein of 130 kDa"	612993				8314147, 15935955, 21832087	Standard	NM_001282793		Approved	DOC-1, GIP130	uc003dtm.3	Q4L180	OTTHUMG00000159055	ENST00000354552.3:c.201C>G	3.37:g.99649664G>C						FILIP1L_ENST00000398326.2_Silent_p.L67L|CMSS1_ENST00000496116.1_Intron|FILIP1L_ENST00000354552.3_Silent_p.L67L|CMSS1_ENST00000421999.2_Intron	p.L67L	NM_001042459.1	NP_001035924.1	Q4L180	FIL1L_HUMAN			2	671	-			67					B2CNV7|B2CNV8|Q13597|Q2YDY5|Q6KFX5|Q6KFX6|Q6KFX7|Q8IUM3|Q8N6Z0	Silent	SNP	ENST00000354552.3	37	c.201C>G	CCDS43117.1																																																																																				0.512	FILIP1L-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000353069.1	NM_014890		3	20	0	0	0	1	0	3	20					C	99649664	G	C	99649664	2	2	316	1	0	0	0	0	0	0	0	1	5895	929	33	5		5	FILIP1L	3	99649664	Silent	SNP	G	TCGA-KK-A6E5-01A-11D-A30X-08	80454	99649664	98372766	8	16226											
LETM1	3954	broad.mit.edu	37	chr4	1834579	1834579	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttgcacagggccaccagctgCggccgtgtcaggttgtccag	6	8	14	13	2	1	0	1	0	0	0	2	0	2	0	4	3	3	3	4	3	0	2			TCGA-KK-A6E5-01A-11D-A30X-08	TCGA-KK-A6E5-11A-12D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a313eac-afe7-4317-ae67-a2eba7cd821f	ae48940c-acd7-4556-ac88-e791eda0f5d0	g.chr4:1834579C>T	ENST00000302787.2	-	6	1268	c.972G>A	c.(970-972)ccG>ccA	p.P324P		NM_012318.2	NP_036450.1	O95202	LETM1_HUMAN	leucine zipper-EF-hand containing transmembrane protein 1	324	LETM1.				cristae formation (GO:0042407)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(2)|large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1)	13			all cancers(2;0.00756)|OV - Ovarian serous cystadenocarcinoma(23;0.00989)|Epithelial(3;0.0141)			CCACCAGCTGCGGCCGTGTCA	0.567																																						ENST00000302787.2																			0				breast(3)|central_nervous_system(2)|large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1)	13						c.(970-972)ccG>ccA		leucine zipper-EF-hand containing transmembrane protein 1							94	87	89					4																	1834579		2203	4300	6503	SO:0001819	synonymous_variant	3954				cristae formation	integral to membrane|mitochondrial inner membrane	calcium ion binding|protein binding	g.chr4:1834579C>T	AF061025	CCDS3355.1	4p16.3	2013-01-10			ENSG00000168924	ENSG00000168924		"EF-hand domain containing"	6556	protein-coding gene	gene with protein product	"Mdm38 homolog (yeast)"	604407				10486213	Standard	NM_012318		Approved		uc003gdv.3	O95202	OTTHUMG00000121149	ENST00000302787.2:c.972G>A	4.37:g.1834579C>T							p.P324P	NM_012318.2	NP_036450.1	O95202	LETM1_HUMAN	all cancers(2;0.00756)|OV - Ovarian serous cystadenocarcinoma(23;0.00989)|Epithelial(3;0.0141)		6	1268	-			324			LETM1.		B4DED2|Q9UF65	Silent	SNP	ENST00000302787.2	37	c.972G>A	CCDS3355.1																																																																																				0.567	LETM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241634.1			4	92	0	0	0	1	0	4	92					T	1834579	C	T	1834579	2	4	316	1	0	0	0	0	0	0	0	1	8734	755	27	1		1	LETM1	4	1834579	Silent	SNP	C	TCGA-KK-A6E5-01A-11D-A30X-08		1834579	189319697	9	16227											
G3BP2	9908	broad.mit.edu	37	chr4	76571629	76571629	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	attgatgcgaagttccacaaCgtttccaaaacctgtgaaaa	15	10	7	9	2	0	2	0	2	0	0	2	3	2	2	3	0	3	2	3	0	6	3			TCGA-KK-A6E5-01A-11D-A30X-08	TCGA-KK-A6E5-11A-12D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a313eac-afe7-4317-ae67-a2eba7cd821f	ae48940c-acd7-4556-ac88-e791eda0f5d0	g.chr4:76571629C>T	ENST00000359707.4	-	11	1854	c.1069G>A	c.(1069-1071)Gtt>Att	p.V357I	G3BP2_ENST00000395719.3_Missense_Mutation_p.V357I|G3BP2_ENST00000357854.3_Missense_Mutation_p.V324I	NM_203505.2	NP_987101.1	Q9UN86	G3BP2_HUMAN	GTPase activating protein (SH3 domain) binding protein 2	357	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.				cytoplasmic sequestering of NF-kappaB (GO:0007253)|mRNA transport (GO:0051028)|Ras protein signal transduction (GO:0007265)	cytoplasm (GO:0005737)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|receptor signaling complex scaffold activity (GO:0030159)			breast(3)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	27			Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122)			AGTTCCACAACGTTTCCAAAA	0.358																																						ENST00000359707.4																			0				breast(3)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	27						c.(1069-1071)Gtt>Att		GTPase activating protein (SH3 domain) binding protein 2							128	139	136					4																	76571629		2203	4300	6503	SO:0001583	missense	9908				cytoplasmic sequestering of NF-kappaB|mRNA transport|Ras protein signal transduction|regulation of small GTPase mediated signal transduction	cytosol	GTPase activator activity|nucleotide binding|receptor signaling complex scaffold activity|RNA binding	g.chr4:76571629C>T	AB014560	CCDS3571.1, CCDS3572.1	4q21.1	2013-02-12	2006-11-01		ENSG00000138757	ENSG00000138757		"RNA binding motif (RRM) containing"	30291	protein-coding gene	gene with protein product	"Ras-GTPase activating protein SH3 domain-binding protein 2"					9734811, 9575347	Standard	NM_203504		Approved	KIAA0660	uc003his.3	Q9UN86	OTTHUMG00000130097	ENST00000359707.4:c.1069G>A	4.37:g.76571629C>T	ENSP00000352738:p.Val357Ile					G3BP2_ENST00000357854.3_Missense_Mutation_p.V324I|G3BP2_ENST00000395719.3_Missense_Mutation_p.V357I	p.V357I	NM_203505.2	NP_987101.1	Q9UN86	G3BP2_HUMAN	Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122)		11	1854	-			357			RRM.		A8K6X1|O60606|O75149|Q9UPA1	Missense_Mutation	SNP	ENST00000359707.4	37	c.1069G>A	CCDS3571.1	.	.	.	.	.	.	.	.	.	.	C	27.6	4.846414	0.91277	.	.	ENSG00000138757	ENST00000395719;ENST00000359707;ENST00000357854	T;T;T	0.74106	-0.81;-0.81;-0.81	6.17	5.33	0.75918	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.052570	0.85682	N	0.000000	T	0.64821	0.2633	N	0.20807	0.61	0.58432	D	0.999999	B;P	0.50369	0.043;0.934	B;P	0.49332	0.008;0.607	T	0.63910	-0.6530	10	0.02654	T	1	.	15.699	0.77528	0.0:0.9348:0.0:0.0652	.	324;357	Q9UN86-2;Q9UN86	.;G3BP2_HUMAN	I	357;357;324	ENSP00000379069:V357I;ENSP00000352738:V357I;ENSP00000350518:V324I	ENSP00000350518:V324I	V	-	1	0	G3BP2	76790653	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.477000	0.81069	1.630000	0.50440	0.655000	0.94253	GTT		0.358	G3BP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252399.2	NM_012297		7	191	0	0	0	1	0	7	191					T	76571629	C	T	76571629	3	4	316	1	0	0	0	0	1	0	0	0	6142	536	19	1	387	1	G3BP2	4	76571629	Missense_Mutation	SNP	C	TCGA-KK-A6E5-01A-11D-A30X-08	74737050	76571629	114582647	10	16228											
HIST1H2BF	8343	broad.mit.edu	37	chr6	26199817	26199817	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ctgctaagtccgctcctgctCcaaaaaagggctccaaaaag	13	7	8	13	1	0	0	0	0	0	0	4	0	4	0	4	1	2	4	4	1	6	1	rs80084141		TCGA-KK-A6E5-01A-11D-A30X-08	TCGA-KK-A6E5-11A-12D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a313eac-afe7-4317-ae67-a2eba7cd821f	ae48940c-acd7-4556-ac88-e791eda0f5d0	g.chr6:26199817C>T	ENST00000359985.1	+	1	70	c.31C>T	c.(31-33)Cca>Tca	p.P11S	HIST1H3D_ENST00000356476.2_5'Flank|HIST1H3D_ENST00000377831.5_5'Flank|HIST1H2AD_ENST00000341023.1_5'Flank	NM_003522.3	NP_003513.1	P62807	H2B1C_HUMAN	histone cluster 1, H2bf	11					antibacterial humoral response (GO:0019731)|chromatin organization (GO:0006325)|defense response to Gram-positive bacterium (GO:0050830)|innate immune response in mucosa (GO:0002227)|nucleosome assembly (GO:0006334)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|liver(2)|lung(7)|upper_aerodigestive_tract(3)	17		all_hematologic(11;0.196)				CGCTCCTGCTCCAAAAAAGGG	0.483																																						ENST00000359985.1																			0				haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|liver(2)|lung(7)|upper_aerodigestive_tract(3)	17						c.(31-33)Cca>Tca		histone cluster 1, H2bf							98	96	97					6																	26199817		2203	4300	6503	SO:0001583	missense	8343				defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding	g.chr6:26199817C>T	Z80779	CCDS4592.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000197846	ENSG00000277224		"Histones / Replication-dependent"	4752	protein-coding gene	gene with protein product		602804	"H2B histone family, member G", "histone 1, H2bf"	H2BFG		9119399, 12408966	Standard	NM_003522		Approved	H2B/g	uc003ngx.3	P62807	OTTHUMG00000014445	ENST00000359985.1:c.31C>T	6.37:g.26199817C>T	ENSP00000353074:p.Pro11Ser						p.P11S	NM_003522.3	NP_003513.1	P62807	H2B1C_HUMAN			1	70	+		all_hematologic(11;0.196)	11					P02278|Q3B872|Q4VB69|Q93078|Q93080	Missense_Mutation	SNP	ENST00000359985.1	37	c.31C>T	CCDS4592.1	.	.	.	.	.	.	.	.	.	.	.	13.64	2.298315	0.40694	.	.	ENSG00000197846	ENST00000359985	T	0.22336	1.96	4.71	3.82	0.43975	.	0.000000	0.40908	D	0.000990	T	0.19967	0.0480	.	.	.	0.34745	D	0.731158	.	.	.	.	.	.	T	0.01390	-1.1367	7	0.40728	T	0.16	.	12.839	0.57790	0.0:0.9149:0.0:0.0851	.	.	.	.	S	11	ENSP00000353074:P11S	ENSP00000353074:P11S	P	+	1	0	HIST1H2BF	26307796	0.859000	0.29813	0.649000	0.29536	0.108000	0.19459	2.227000	0.42972	2.318000	0.78349	0.650000	0.86243	CCA		0.483	HIST1H2BF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040108.1	NM_003522		9	89	0	0	0	1	0	9	89					T	26199817	C	T	26199817	3	4	316	1	0	0	0	0	1	0	0	0	7145	855	30	3	33	3	HIST1H2BF	6	26199817	Missense_Mutation	SNP	C	TCGA-KK-A6E5-01A-11D-A30X-08		26199817	144915250	11	16229											
UHRF1BP1	54887	broad.mit.edu	37	chr6	34824168	34824168	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggcaccttggagtagactctCtctttcggagaaaagcaggt	10	10	12	9	1	2	2	0	0	2	2	4	4	2	3	1	4	1	3	1	4	3	3			TCGA-KK-A6E5-01A-11D-A30X-08	TCGA-KK-A6E5-11A-12D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a313eac-afe7-4317-ae67-a2eba7cd821f	ae48940c-acd7-4556-ac88-e791eda0f5d0	g.chr6:34824168C>T	ENST00000192788.5	+	10	1444	c.1273C>T	c.(1273-1275)Ctc>Ttc	p.L425F	UHRF1BP1_ENST00000452449.2_Missense_Mutation_p.L425F	NM_017754.3	NP_060224.3	Q6BDS2	URFB1_HUMAN	UHRF1 binding protein 1	425							histone deacetylase binding (GO:0042826)|identical protein binding (GO:0042802)			breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(24)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	54						AGTAGACTCTCTCTTTCGGAG	0.478																																						ENST00000192788.5																			0				breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(24)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	54						c.(1273-1275)Ctc>Ttc		UHRF1 binding protein 1							107	110	109					6																	34824168		1903	4127	6030	SO:0001583	missense	54887							g.chr6:34824168C>T	AB126777	CCDS43455.1	6p21.31	2008-10-28	2008-08-15	2007-11-27	ENSG00000065060	ENSG00000065060			21216	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 107"	C6orf107			Standard	NM_017754		Approved	FLJ20302, dJ349A12.1, ICBP90	uc003oju.4	Q6BDS2	OTTHUMG00000014557	ENST00000192788.5:c.1273C>T	6.37:g.34824168C>T	ENSP00000192788:p.Leu425Phe					UHRF1BP1_ENST00000452449.2_Missense_Mutation_p.L425F	p.L425F	NM_017754.3	NP_060224.3	Q6BDS2	URFB1_HUMAN			10	1444	+			425					Q9NXE0	Missense_Mutation	SNP	ENST00000192788.5	37	c.1273C>T	CCDS43455.1	.	.	.	.	.	.	.	.	.	.	C	10.36	1.327774	0.24080	.	.	ENSG00000065060	ENST00000192788;ENST00000452449	T;T	0.08282	3.11;3.11	5.88	1.09	0.20402	.	0.343905	0.31381	N	0.007758	T	0.01124	0.0037	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.48547	-0.9026	10	0.20046	T	0.44	-3.5845	9.4711	0.38842	0.0:0.661:0.0:0.339	.	425	Q6BDS2	URFB1_HUMAN	F	425	ENSP00000192788:L425F;ENSP00000400628:L425F	ENSP00000192788:L425F	L	+	1	0	UHRF1BP1	34932146	0.009000	0.17119	0.511000	0.27724	0.335000	0.28730	0.639000	0.24690	0.409000	0.25649	0.591000	0.81541	CTC		0.478	UHRF1BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040260.1	NM_017754		17	87	0	0	0	1	0	17	87					T	34824168	C	T	34824168	3	4	316	1	0	0	0	0	1	0	0	0	16965	913	32	3	1311	3	UHRF1BP1	6	34824168	Missense_Mutation	SNP	C	TCGA-KK-A6E5-01A-11D-A30X-08	8624351	34824168	136290899	12	16230											
PGK2	5232	broad.mit.edu	37	chr6	49754653	49754653	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccagcaaggatttgagctcaAcagcaacaggtgctaaggaa	15	6	11	9	0	1	1	1	1	0	0	1	3	1	3	1	3	6	4	1	3	5	2			TCGA-KK-A6E5-01A-11D-A30X-08	TCGA-KK-A6E5-11A-12D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a313eac-afe7-4317-ae67-a2eba7cd821f	ae48940c-acd7-4556-ac88-e791eda0f5d0	g.chr6:49754653A>G	ENST00000304801.3	-	1	400	c.248T>C	c.(247-249)gTt>gCt	p.V83A		NM_138733.4	NP_620061.2	P07205	PGK2_HUMAN	phosphoglycerate kinase 2	83					glycolytic process (GO:0006096)|phosphorylation (GO:0016310)|sperm motility (GO:0030317)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|sperm fibrous sheath (GO:0035686)	ATP binding (GO:0005524)|phosphoglycerate kinase activity (GO:0004618)			autonomic_ganglia(1)|endometrium(3)|large_intestine(12)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	47	Lung NSC(77;0.0402)					TTTGAGCTCAACAGCAACAGG	0.517																																						ENST00000304801.3																			0				autonomic_ganglia(1)|endometrium(3)|large_intestine(12)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	47						c.(247-249)gTt>gCt		phosphoglycerate kinase 2							155	133	140					6																	49754653		2203	4300	6503	SO:0001583	missense	5232				glycolysis	cytosol	ATP binding|phosphoglycerate kinase activity	g.chr6:49754653A>G	K03019	CCDS4930.1	6p12.3	2012-09-20		2002-04-19	ENSG00000170950	ENSG00000170950			8898	protein-coding gene	gene with protein product		172270				3839763, 3453121	Standard	NM_138733		Approved	PGKPS, PGK-2	uc003ozu.3	P07205	OTTHUMG00000014824	ENST00000304801.3:c.248T>C	6.37:g.49754653A>G	ENSP00000305995:p.Val83Ala						p.V83A	NM_138733.4	NP_620061.2	P07205	PGK2_HUMAN			1	400	-	Lung NSC(77;0.0402)		83					B2R6Y8|Q9H107	Missense_Mutation	SNP	ENST00000304801.3	37	c.248T>C	CCDS4930.1	.	.	.	.	.	.	.	.	.	.	A	0.009	-1.812322	0.00600	.	.	ENSG00000170950	ENST00000304801	D	0.91180	-2.8	4.09	-1.12	0.09808	Phosphoglycerate kinase, N-terminal (1);	0.533559	0.21703	N	0.070390	T	0.39064	0.1064	N	0.01197	-0.965	0.20563	N	0.999888	B	0.02656	0.0	B	0.04013	0.001	T	0.55617	-0.8113	10	0.05721	T	0.95	-0.9678	2.7725	0.05338	0.0872:0.2659:0.2403:0.4066	.	83	P07205	PGK2_HUMAN	A	83	ENSP00000305995:V83A	ENSP00000305995:V83A	V	-	2	0	PGK2	49862612	0.551000	0.26497	0.964000	0.40570	0.364000	0.29643	0.576000	0.23744	-0.225000	0.09913	-0.208000	0.12717	GTT		0.517	PGK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040872.1			15	90	0	0	0	1	0	15	90					G	49754653	A	G	49754653	3	3	316	1	0	0	0	0	1	0	0	0	11791	43	2	4	1009	4	PGK2	6	49754653	Missense_Mutation	SNP	A	TCGA-KK-A6E5-01A-11D-A30X-08	14930485	49754653	121360414	13	16231											
KCNQ5	56479	broad.mit.edu	37	chr6	73830210	73830210	+	Frame_Shift_Del	DEL	T	T	-																															tctatgccacatgcagtgtgTttggcgtagttacgcagctg																										TCGA-KK-A6E5-01A-11D-A30X-08	TCGA-KK-A6E5-11A-12D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a313eac-afe7-4317-ae67-a2eba7cd821f	ae48940c-acd7-4556-ac88-e791eda0f5d0	g.chr6:73830210delT	ENST00000370398.1	+	8	1239	c.1130delT	c.(1129-1131)gttfs	p.V377fs	KCNQ5_ENST00000402622.2_Frame_Shift_Del_p.V377fs|KCNQ5_ENST00000355635.3_Frame_Shift_Del_p.V377fs|KCNQ5_ENST00000355194.4_Frame_Shift_Del_p.V377fs|KCNQ5_ENST00000414165.2_Frame_Shift_Del_p.V377fs|KCNQ5_ENST00000370392.1_Frame_Shift_Del_p.V377fs|KCNQ5_ENST00000342056.2_Frame_Shift_Del_p.V377fs|KCNQ5_ENST00000403813.2_Frame_Shift_Del_p.V377fs	NM_019842.3	NP_062816.2	Q9NR82	KCNQ5_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 5	377					protein complex assembly (GO:0006461)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|inward rectifier potassium channel activity (GO:0005242)			breast(1)|cervix(1)|endometrium(6)|kidney(7)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	57		all_epithelial(107;0.116)|Lung NSC(302;0.219)		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)	Ezogabine(DB04953)	ATGCAGTGTGTTTGGCGTAGT	0.413																																					GBM(142;1375 1859 14391 23261 44706)	ENST00000342056.2																			0				breast(1)|cervix(1)|endometrium(6)|kidney(7)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	57						c.(1129-1131)gtfs		potassium voltage-gated channel, KQT-like subfamily, member 5							80	65	70					6																	73830210		2203	4300	6503	SO:0001589	frameshift_variant	56479				protein complex assembly|synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity	g.chr6:73830210delT	AF202977	CCDS4976.1, CCDS55034.1	6q14	2012-07-05			ENSG00000185760	ENSG00000185760		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6299	protein-coding gene	gene with protein product		607357				10787416, 10816588, 16382104	Standard	NM_019842		Approved	Kv7.5	uc011dyh.2	Q9NR82	OTTHUMG00000015020	ENST00000370398.1:c.1130delT	6.37:g.73830210delT	ENSP00000359425:p.Val377fs					KCNQ5_ENST00000403813.2_Frame_Shift_Del_p.V377fs|KCNQ5_ENST00000402622.2_Frame_Shift_Del_p.V377fs|KCNQ5_ENST00000370392.1_Frame_Shift_Del_p.V377fs|KCNQ5_ENST00000370398.1_Frame_Shift_Del_p.V377fs|KCNQ5_ENST00000355635.3_Frame_Shift_Del_p.V377fs|KCNQ5_ENST00000355194.4_Frame_Shift_Del_p.V377fs|KCNQ5_ENST00000414165.2_Frame_Shift_Del_p.V377fs	p.V377fs	NM_001160132.1|NM_001160133.1	NP_001153604.1|NP_001153605.1	Q9NR82	KCNQ5_HUMAN		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)	8	1528	+		all_epithelial(107;0.116)|Lung NSC(302;0.219)	377					A6NKT6|A6PVT6|A8MSQ5|B4DS33|B5MC83|B7ZL37|F5GZV0|Q17RE1|Q5VVP3|Q86W40|Q9NRN0|Q9NYA6	Frame_Shift_Del	DEL	ENST00000370398.1	37	c.1130delT	CCDS4976.1																																																																																				0.413	KCNQ5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000041198.3	NM_019842		8	26						8	26	---	---	---	---	-	73830210	T	-	73830210	7	5	316	1	0	1	0	1	0	0	0	0	8086	1725	60	0	1160	0	KCNQ5	6	73830210	Frame_Shift_Del	DEL	T	TCGA-KK-A6E5-01A-11D-A30X-08	24075557	73830210	97284857	14	16232											
VTA1	51534	broad.mit.edu	37	chr6	142490757	142490757	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctgtgcccatttggagaattAtgctttgaaaatgtttttgt	9	18	9	5	0	0	2	0	1	0	1	0	3	0	2	1	1	2	2	1	1	4	5			TCGA-KK-A6E5-01A-11D-A30X-08	TCGA-KK-A6E5-11A-12D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a313eac-afe7-4317-ae67-a2eba7cd821f	ae48940c-acd7-4556-ac88-e791eda0f5d0	g.chr6:142490757A>T	ENST00000367630.4	+	3	336	c.278A>T	c.(277-279)tAt>tTt	p.Y93F	VTA1_ENST00000452973.2_Missense_Mutation_p.Y35F|VTA1_ENST00000367621.1_Missense_Mutation_p.Y35F	NM_016485.3	NP_057569.2	Q9NP79	VTA1_HUMAN	vesicle (multivesicular body) trafficking 1	93	Interaction with IST1.				endosomal transport (GO:0016197)|membrane organization (GO:0061024)|protein transport (GO:0015031)|viral life cycle (GO:0019058)|viral process (GO:0016032)	cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)				endometrium(2)|large_intestine(1)|lung(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12	Breast(32;0.155)			OV - Ovarian serous cystadenocarcinoma(155;1.34e-05)|GBM - Glioblastoma multiforme(68;0.00182)		TTGGAGAATTATGCTTTGAAA	0.303																																						ENST00000367630.4																			0				endometrium(2)|large_intestine(1)|lung(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						c.(277-279)tAt>tTt		vesicle (multivesicular body) trafficking 1							81	86	84					6																	142490757		2202	4300	6502	SO:0001583	missense	51534				cellular membrane organization|endosome transport|protein transport	cytosol|endosome membrane	protein binding	g.chr6:142490757A>T	AF060225	CCDS5197.1, CCDS69214.1, CCDS75531.1	6q24.1	2013-08-05	2013-08-05	2007-04-03	ENSG00000009844	ENSG00000009844			20954	protein-coding gene	gene with protein product		610902	"chromosome 6 open reading frame 55", "Vps20-associated 1 homolog (S. cerevisiae)"	C6orf55		11489251, 15644320	Standard	NM_001286372		Approved	HSPC228, My012	uc003qiw.3	Q9NP79	OTTHUMG00000015707	ENST00000367630.4:c.278A>T	6.37:g.142490757A>T	ENSP00000356602:p.Tyr93Phe					VTA1_ENST00000452973.2_Missense_Mutation_p.Y35F|VTA1_ENST00000367621.1_Missense_Mutation_p.Y35F	p.Y93F	NM_016485.3	NP_057569.2	Q9NP79	VTA1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;1.34e-05)|GBM - Glioblastoma multiforme(68;0.00182)	3	336	+	Breast(32;0.155)		93			Interaction with IST1.		B4DW55|E1P594|E7ETQ7|Q5TGM1|Q6IAE8|Q9H0R2|Q9H3K9|Q9P0Q0	Missense_Mutation	SNP	ENST00000367630.4	37	c.278A>T	CCDS5197.1	.	.	.	.	.	.	.	.	.	.	A	23.3	4.405416	0.83230	.	.	ENSG00000009844	ENST00000367630;ENST00000367621;ENST00000452973;ENST00000427932	T;T;T	0.22945	1.93;1.93;1.93	4.74	4.74	0.60224	Vacuolar protein sorting-associate Vta1, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.06690	0.0171	N	0.11364	0.135	0.80722	D	1	B;P	0.40660	0.246;0.726	P;B	0.44447	0.45;0.398	T	0.04216	-1.0968	10	0.02654	T	1	-13.985	14.5608	0.68133	1.0:0.0:0.0:0.0	.	35;93	E7ETQ7;Q9NP79	.;VTA1_HUMAN	F	93;35;35;94	ENSP00000356602:Y93F;ENSP00000356593:Y35F;ENSP00000395767:Y35F	ENSP00000356593:Y35F	Y	+	2	0	VTA1	142532450	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.727000	0.91480	1.891000	0.54761	0.533000	0.62120	TAT		0.303	VTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042483.2	NM_016485		3	29	0	0	0	1	0	3	29					T	142490757	A	T	142490757	3	4	316	1	0	0	0	0	1	0	0	0	17230	449	16	5	288	5	VTA1	6	142490757	Missense_Mutation	SNP	A	TCGA-KK-A6E5-01A-11D-A30X-08	68660547	142490757	28624310	15	16233											
KCNT1	57582	broad.mit.edu	37	chr9	138657479	138657479	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggccggcaggactattacGtggtcatcctgtgccccacg	6	9	12	14	3	1	0	1	0	0	0	2	1	2	1	4	4	2	1	4	4	2	2	rs368174673		TCGA-KK-A6E5-01A-11D-A30X-08	TCGA-KK-A6E5-11A-12D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a313eac-afe7-4317-ae67-a2eba7cd821f	ae48940c-acd7-4556-ac88-e791eda0f5d0	g.chr9:138657479G>A	ENST00000263604.3	+	13	1153	c.1153G>A	c.(1153-1155)Gtg>Atg	p.V385M	KCNT1_ENST00000298480.5_Missense_Mutation_p.V404M|KCNT1_ENST00000371757.2_Missense_Mutation_p.V404M|KCNT1_ENST00000488444.2_Missense_Mutation_p.V385M|KCNT1_ENST00000486577.2_Missense_Mutation_p.V365M|KCNT1_ENST00000491806.2_Missense_Mutation_p.V371M|KCNT1_ENST00000490355.2_Missense_Mutation_p.V385M|KCNT1_ENST00000487664.1_Missense_Mutation_p.V359M			Q5JUK3	KCNT1_HUMAN	potassium channel, subfamily T, member 1	385					potassium ion transmembrane transport (GO:0071805)	voltage-gated potassium channel complex (GO:0008076)	calcium-activated potassium channel activity (GO:0015269)|voltage-gated potassium channel activity (GO:0005249)			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05)		GGACTATTACGTGGTCATCCT	0.662																																						ENST00000298480.5																			0				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						c.(1210-1212)Gtg>Atg		potassium channel, subfamily T, member 1		G	MET/VAL	0,4396		0,0,2198	43	42	42		1210	3.7	1	9		42	1,8595	1.2+/-3.3	0,1,4297	no	missense	KCNT1	NM_020822.2	21	0,1,6495	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	404/1236	138657479	1,12991	2198	4298	6496	SO:0001583	missense	57582					membrane	binding|calcium-activated potassium channel activity	g.chr9:138657479G>A	AB037843	CCDS35175.1, CCDS35175.2, CCDS65188.1	9q34.3	2012-07-05			ENSG00000107147	ENSG00000107147		"Potassium channels", "Voltage-gated ion channels / Potassium channels, calcium-activated"	18865	protein-coding gene	gene with protein product		608167				10718198, 16382103	Standard	NM_020822		Approved	KCa4.1, KIAA1422	uc011mdq.2	Q5JUK3	OTTHUMG00000020917	ENST00000263604.3:c.1153G>A	9.37:g.138657479G>A	ENSP00000263604:p.Val385Met					KCNT1_ENST00000371757.2_Missense_Mutation_p.V404M|KCNT1_ENST00000488444.2_Missense_Mutation_p.V385M|KCNT1_ENST00000486577.2_Missense_Mutation_p.V365M|KCNT1_ENST00000263604.3_Missense_Mutation_p.V385M|KCNT1_ENST00000487664.1_Missense_Mutation_p.V359M|KCNT1_ENST00000490355.2_Missense_Mutation_p.V385M|KCNT1_ENST00000491806.2_Missense_Mutation_p.V371M	p.V404M			B7ZVY4	B7ZVY4_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05)	13	1284	+		Myeloproliferative disorder(178;0.0821)	404					B3KXF7|B7ZVY4|B9EGP2|G5E9V0|Q9P2C5	Missense_Mutation	SNP	ENST00000263604.3	37	c.1210G>A		.	.	.	.	.	.	.	.	.	.	G	22.8	4.343335	0.82022	0.0	1.16E-4	ENSG00000107147	ENST00000487664;ENST00000298480;ENST00000371757;ENST00000486577;ENST00000491806;ENST00000488444;ENST00000490355;ENST00000263604	T;T;T;T	0.34072	1.4;1.4;1.4;1.38	4.61	3.7	0.42460	NAD(P)-binding domain (1);	0.000000	0.64402	U	0.000003	T	0.59514	0.2199	M	0.83012	2.62	0.58432	D	0.999997	P;D;D;P	0.76494	0.945;0.999;0.981;0.945	B;D;P;P	0.64042	0.368;0.921;0.703;0.449	T	0.66252	-0.5970	10	0.87932	D	0	-6.4241	13.2288	0.59929	0.0:0.0:0.8403:0.1596	.	371;404;359;385	C9JYL2;B9EGP2;G5E9V0;Q5JUK3	.;.;.;KCNT1_HUMAN	M	359;404;404;365;371;385;385;385	ENSP00000417851:V359M;ENSP00000298480:V404M;ENSP00000360822:V404M;ENSP00000263604:V385M	ENSP00000263604:V385M	V	+	1	0	KCNT1	137797300	1.000000	0.71417	1.000000	0.80357	0.923000	0.55619	6.418000	0.73341	0.913000	0.36797	0.313000	0.20887	GTG		0.662	KCNT1-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_020822		7	20	0	0	0	1	0	7	20					A	138657479	G	A	138657479	3	1	316	1	0	0	0	0	1	0	0	0	8091	1145	40	1	1260	1	KCNT1	9	138657479	Missense_Mutation	SNP	G	TCGA-KK-A6E5-01A-11D-A30X-08		138657479	2555952	16	16234											
SIK3	23387	broad.mit.edu	37	chr11	116729350	116729350	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gggaaccccgggactggtccGaaaacagatgggggtgtaaa	12	5	16	8	2	0	1	0	0	0	1	1	4	1	3	3	5	2	1	3	5	5	1			TCGA-KK-A6E5-01A-11D-A30X-08	TCGA-KK-A6E5-11A-12D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a313eac-afe7-4317-ae67-a2eba7cd821f	ae48940c-acd7-4556-ac88-e791eda0f5d0	g.chr11:116729350G>A	ENST00000292055.4	-	20	2548	c.2513C>T	c.(2512-2514)tCg>tTg	p.S838L	AP006216.12_ENST00000444200.1_RNA|SIK3_ENST00000488337.1_Intron|SIK3_ENST00000375288.1_Intron|SIK3_ENST00000375300.1_Missense_Mutation_p.S896L|SIK3_ENST00000542607.1_Intron|SIK3_ENST00000446921.2_Intron|SIK3_ENST00000434315.2_Intron	NM_025164.3	NP_079440.3	Q9Y2K2	SIK3_HUMAN	SIK family kinase 3	838	Gln-rich.				protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	57						GGACTGGTCCGAAAACAGATG	0.557																																						ENST00000375300.1																			0				breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	57						c.(2686-2688)tCg>tTg		SIK family kinase 3							74	78	76					11																	116729350		2201	4296	6497	SO:0001583	missense	23387					cytoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity	g.chr11:116729350G>A	AB023216	CCDS8379.1, CCDS60974.1, CCDS8379.2	11q23.3	2010-02-17			ENSG00000160584	ENSG00000160584			29165	protein-coding gene	gene with protein product		614776				10231032, 8889548	Standard	NM_025164		Approved	FLJ12240, L19, KIAA0999, QSK	uc001ppy.3	Q9Y2K2	OTTHUMG00000066628	ENST00000292055.4:c.2513C>T	11.37:g.116729350G>A	ENSP00000292055:p.Ser838Leu					SIK3_ENST00000488337.1_Intron|SIK3_ENST00000542607.1_Intron|SIK3_ENST00000446921.2_Intron|SIK3_ENST00000434315.2_Intron|SIK3_ENST00000292055.4_Missense_Mutation_p.S838L|SIK3_ENST00000375288.1_Intron	p.S896L			Q9Y2K2	SIK3_HUMAN			20	2692	-			838			Gln-rich.		A1A5A8|Q59FY2|Q5M9N1|Q6P3R6|Q8IYM8|Q9HA50	Missense_Mutation	SNP	ENST00000292055.4	37	c.2687C>T	CCDS8379.1	.	.	.	.	.	.	.	.	.	.	G	17.37	3.373041	0.61624	.	.	ENSG00000160584	ENST00000375300;ENST00000292055	T;T	0.73789	-0.75;-0.78	5.67	4.72	0.59763	.	0.439086	0.16781	N	0.199764	T	0.57475	0.2056	N	0.24115	0.695	0.80722	D	1	P;P	0.49635	0.926;0.878	B;B	0.33960	0.173;0.084	T	0.61178	-0.7115	10	0.51188	T	0.08	.	13.6458	0.62281	0.0787:0.0:0.9213:0.0	.	838;838	Q9Y2K2-3;Q9Y2K2	.;SIK3_HUMAN	L	896;838	ENSP00000364449:S896L;ENSP00000292055:S838L	ENSP00000292055:S838L	S	-	2	0	SIK3	116234560	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.581000	0.74045	1.289000	0.44618	-0.345000	0.07892	TCG		0.557	SIK3-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		NM_025164		4	106	0	0	0	1	0	4	106					A	116729350	G	A	116729350	3	1	316	1	0	0	0	0	1	0	0	0	14319	1059	37	2	1294	2	SIK3	11	116729350	Missense_Mutation	SNP	G	TCGA-KK-A6E5-01A-11D-A30X-08		116729350	18277166	17	16235											
MLL2	8085	broad.mit.edu	37	chr12	49434307	49434307	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctgggagctggactgggactGaggactggcaggcactcggg	7	6	19	9	1	0	1	0	1	0	0	1	5	0	5	0	7	1	3	0	7	0	0			TCGA-KK-A6E5-01A-11D-A30X-08	TCGA-KK-A6E5-11A-12D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a313eac-afe7-4317-ae67-a2eba7cd821f	ae48940c-acd7-4556-ac88-e791eda0f5d0	g.chr12:49434307G>A	ENST00000301067.7	-	31	7245	c.7246C>T	c.(7246-7248)Cag>Tag	p.Q2416*		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	2416	Pro-rich.				chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)										GACTGGGACTGAGGACTGGCA	0.647																																						ENST00000301067.7																			0											c.(7246-7248)Cag>Tag		lysine (K)-specific methyltransferase 2D							25	30	29					12																	49434307		2112	4225	6337	SO:0001587	stop_gained	8085							g.chr12:49434307G>A	AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	7133	protein-coding gene	gene with protein product		602113	"trinucleotide repeat containing 21", "myeloid/lymphoid or mixed-lineage leukemia 2"	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.7246C>T	12.37:g.49434307G>A	ENSP00000301067:p.Gln2416*						p.Q2416*	NM_003482.3	NP_003473.3					31	7245	-								O14687	Nonsense_Mutation	SNP	ENST00000301067.7	37	c.7246C>T	CCDS44873.1	.	.	.	.	.	.	.	.	.	.	G	47	13.807490	0.99764	.	.	ENSG00000167548	ENST00000301067	.	.	.	5.21	5.21	0.72293	.	0.000000	0.35466	N	0.003185	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	17.9117	0.88936	0.0:0.0:1.0:0.0	.	.	.	.	X	2416	.	ENSP00000301067:Q2416X	Q	-	1	0	MLL2	47720574	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.387000	0.73191	2.596000	0.87737	0.591000	0.81541	CAG		0.647	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2			4	31	0	0	0	1	0	4	31					A	49434307	G	A	49434307	4	1	316	1	0	0	0	0	0	1	0	0	9621	1299	45	3	9463	3	MLL2	12	49434307	Nonsense_Mutation	SNP	G	TCGA-KK-A6E5-01A-11D-A30X-08		49434307	84417588	18	16236											
FRS2	10818	broad.mit.edu	37	chr12	69968695	69968695	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gccacgagatgatggtacatCtaggaaaactagacacaata	17	7	9	8	1	1	3	0	1	1	2	1	5	1	4	1	2	2	1	1	2	7	4			TCGA-KK-A6E5-01A-11D-A30X-08	TCGA-KK-A6E5-11A-12D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a313eac-afe7-4317-ae67-a2eba7cd821f	ae48940c-acd7-4556-ac88-e791eda0f5d0	g.chr12:69968695C>G	ENST00000550389.1	+	7	1733	c.1487C>G	c.(1486-1488)tCt>tGt	p.S496C	FRS2_ENST00000397997.2_Missense_Mutation_p.S496C|FRS2_ENST00000549921.1_Missense_Mutation_p.S496C|FRS2_ENST00000299293.2_Missense_Mutation_p.S496C	NM_001278353.1|NM_001278357.1	NP_001265282.1|NP_001265286.1	Q8WU20	FRS2_HUMAN	fibroblast growth factor receptor substrate 2	496					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|anterior/posterior axis specification, embryo (GO:0008595)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain development (GO:0030900)|G-protein coupled receptor signaling pathway (GO:0007186)|gastrulation with mouth forming second (GO:0001702)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|lens fiber cell development (GO:0070307)|neuroblast proliferation (GO:0007405)|neurotrophin TRK receptor signaling pathway (GO:0048011)|optic placode formation involved in camera-type eye formation (GO:0046619)|organ induction (GO:0001759)|phosphatidylinositol-mediated signaling (GO:0048015)|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis (GO:0060527)|regulation of apoptotic process (GO:0042981)|regulation of epithelial cell proliferation (GO:0050678)|regulation of ERK1 and ERK2 cascade (GO:0070372)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)|ventricular septum development (GO:0003281)	cell-cell junction (GO:0005911)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	fibroblast growth factor receptor binding (GO:0005104)|neurotrophin TRKA receptor binding (GO:0005168)|phosphatase activator activity (GO:0019211)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)			autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22	Breast(13;2.15e-06)|Esophageal squamous(21;0.187)		Epithelial(6;2.94e-18)|Lung(24;9.68e-05)|OV - Ovarian serous cystadenocarcinoma(12;0.000984)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.0151)|Kidney(9;0.143)|LUSC - Lung squamous cell carcinoma(43;0.24)			GATGGTACATCTAGGAAAACT	0.443																																						ENST00000299293.2																			0				autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						c.(1486-1488)tCt>tGt		fibroblast growth factor receptor substrate 2							90	85	87					12																	69968695		1998	4181	6179	SO:0001583	missense	10818				activation of MAPKK activity|activation of phospholipase C activity|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|transmembrane receptor protein tyrosine phosphatase signaling pathway	endomembrane system|endosome|integral to plasma membrane|membrane fraction	fibroblast growth factor receptor binding|insulin receptor binding|phosphatase activator activity|transmembrane receptor protein tyrosine kinase adaptor activity	g.chr12:69968695C>G	AF036717	CCDS41809.1	12q15	2008-02-05				ENSG00000166225			16971	protein-coding gene	gene with protein product		607743				8761293, 9660748	Standard	NM_001278351		Approved	SNT-1, FRS2alpha, SNT1, FRS2A	uc001suz.3	Q8WU20		ENST00000550389.1:c.1487C>G	12.37:g.69968695C>G	ENSP00000447241:p.Ser496Cys					FRS2_ENST00000550389.1_Missense_Mutation_p.S496C|FRS2_ENST00000549921.1_Missense_Mutation_p.S496C|FRS2_ENST00000397997.2_Missense_Mutation_p.S496C	p.S496C	NM_001278351.1|NM_006654.3	NP_001265280.1|NP_006645.3	Q8WU20	FRS2_HUMAN	Epithelial(6;2.94e-18)|Lung(24;9.68e-05)|OV - Ovarian serous cystadenocarcinoma(12;0.000984)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.0151)|Kidney(9;0.143)|LUSC - Lung squamous cell carcinoma(43;0.24)		10	1997	+	Breast(13;2.15e-06)|Esophageal squamous(21;0.187)		496					B0LPF2|B2R684|O43558|Q7LDQ6	Missense_Mutation	SNP	ENST00000550389.1	37	c.1487C>G	CCDS41809.1	.	.	.	.	.	.	.	.	.	.	C	19.89	3.910118	0.72983	.	.	ENSG00000166225	ENST00000299293;ENST00000549921;ENST00000550389;ENST00000397997	T;T;T;T	0.34072	1.38;1.38;1.38;1.38	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.54967	0.1891	L	0.44542	1.39	0.58432	D	0.999997	D	0.76494	0.999	D	0.74674	0.984	T	0.35674	-0.9779	9	.	.	.	-23.0753	20.8794	0.99867	0.0:1.0:0.0:0.0	.	496	Q8WU20	FRS2_HUMAN	C	496	ENSP00000299293:S496C;ENSP00000450048:S496C;ENSP00000447241:S496C;ENSP00000381083:S496C	.	S	+	2	0	FRS2	68254962	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	6.089000	0.71384	2.941000	0.99782	0.655000	0.94253	TCT		0.443	FRS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403760.1	NM_006654		16	77	0	0	0	1	0	16	77					G	69968695	C	G	69968695	3	3	316	1	0	0	0	0	1	0	0	0	6061	913	32	5	1505	5	FRS2	12	69968695	Missense_Mutation	SNP	C	TCGA-KK-A6E5-01A-11D-A30X-08	20534388	69968695	63883200	19	16237											
ZDHHC17	23390	broad.mit.edu	37	chr12	77202835	77202835	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcttatagatactatatttcGaaaggtgctattgtggatca	12	16	8	5	1	2	1	1	0	1	1	3	3	2	2	0	2	2	1	0	2	7	8			TCGA-KK-A6E5-01A-11D-A30X-08	TCGA-KK-A6E5-11A-12D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a313eac-afe7-4317-ae67-a2eba7cd821f	ae48940c-acd7-4556-ac88-e791eda0f5d0	g.chr12:77202835G>A	ENST00000426126.2	+	4	982	c.333G>A	c.(331-333)tcG>tcA	p.S111S	ZDHHC17_ENST00000359019.4_Silent_p.S61S|ZDHHC17_ENST00000334822.5_Silent_p.S111S	NM_015336.2	NP_056151.2	Q8IUH5	ZDH17_HUMAN	zinc finger, DHHC-type containing 17	111					lipoprotein transport (GO:0042953)|magnesium ion transport (GO:0015693)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|protein palmitoylation (GO:0018345)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi-associated vesicle membrane (GO:0030660)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)	identical protein binding (GO:0042802)|magnesium ion transmembrane transporter activity (GO:0015095)|palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|signal transducer activity (GO:0004871)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|large_intestine(3)|liver(2)|lung(14)	23						ACTATATTTCGAAAGGTGCTA	0.289																																						ENST00000426126.2																			0				breast(2)|endometrium(2)|large_intestine(3)|liver(2)|lung(14)	23						c.(331-333)tcG>tcA		zinc finger, DHHC-type containing 17							57	53	54					12																	77202835		1783	4057	5840	SO:0001819	synonymous_variant	23390				lipoprotein transport|positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi-associated vesicle membrane|integral to membrane	magnesium ion transmembrane transporter activity|protein binding|protein-cysteine S-palmitoleyltransferase activity|signal transducer activity|zinc ion binding	g.chr12:77202835G>A	AB023163	CCDS44946.1	12q21.2	2013-01-10				ENSG00000186908		"Zinc fingers, DHHC-type", "Ankyrin repeat domain containing"	18412	protein-coding gene	gene with protein product		607799				9700202, 18794299	Standard	NM_015336		Approved	HIP14, HYPH, KIAA0946	uc001syk.1	Q8IUH5	OTTHUMG00000169917	ENST00000426126.2:c.333G>A	12.37:g.77202835G>A						ZDHHC17_ENST00000334822.5_Silent_p.S111S|ZDHHC17_ENST00000359019.4_Silent_p.S61S	p.S111S	NM_015336.2	NP_056151.2	Q8IUH5	ZDH17_HUMAN			4	982	+			111					B4DR39|O75407|Q7Z2I0|Q86W89|Q86YK0|Q9P088|Q9UPZ8	Silent	SNP	ENST00000426126.2	37	c.333G>A	CCDS44946.1																																																																																				0.289	ZDHHC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406555.1	NM_015336		3	30	0	0	0	1	0	3	30					A	77202835	G	A	77202835	2	1	316	1	0	0	0	0	0	0	0	1	17604	1045	37	2		2	ZDHHC17	12	77202835	Silent	SNP	G	TCGA-KK-A6E5-01A-11D-A30X-08	7234140	77202835	56649060	20	16238											
KERA	11081	broad.mit.edu	37	chr12	91449954	91449954	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cactcgaagtcatgaatagtCcaatcatctgaatcatgtac	14	11	6	10	1	4	2	3	2	1	0	6	3	5	2	1	0	1	1	1	0	6	2			TCGA-KK-A6E5-01A-11D-A30X-08	TCGA-KK-A6E5-11A-12D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a313eac-afe7-4317-ae67-a2eba7cd821f	ae48940c-acd7-4556-ac88-e791eda0f5d0	g.chr12:91449954C>A	ENST00000266719.3	-	2	352	c.105G>T	c.(103-105)tgG>tgT	p.W35C		NM_007035.3	NP_008966.1	O60938	KERA_HUMAN	keratocan	35	LRRNT.				carbohydrate metabolic process (GO:0005975)|cornea development in camera-type eye (GO:0061303)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|response to stimulus (GO:0050896)|small molecule metabolic process (GO:0044281)|visual perception (GO:0007601)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)				breast(2)|large_intestine(8)|lung(5)|prostate(2)|skin(2)	19						CATGAATAGTCCAATCATCTG	0.413																																						ENST00000266719.3																			0				breast(2)|large_intestine(8)|lung(5)|prostate(2)|skin(2)	19						c.(103-105)tgG>tgT		keratocan							103	82	89					12																	91449954		2203	4300	6503	SO:0001583	missense	11081				response to stimulus|visual perception	proteinaceous extracellular matrix		g.chr12:91449954C>A	AF063301	CCDS9037.1	12q21.3-q22	2014-09-17				ENSG00000139330		"Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"	6309	protein-coding gene	gene with protein product	"keratocan proteoglycan"	603288		CNA2		10565548, 10802664	Standard	NM_007035		Approved	SLRR2B	uc001tbl.3	O60938		ENST00000266719.3:c.105G>T	12.37:g.91449954C>A	ENSP00000266719:p.Trp35Cys						p.W35C	NM_007035.3	NP_008966.1	O60938	KERA_HUMAN			2	352	-			35			LRRNT.			Missense_Mutation	SNP	ENST00000266719.3	37	c.105G>T	CCDS9037.1	.	.	.	.	.	.	.	.	.	.	C	3.180	-0.168085	0.06461	.	.	ENSG00000139330	ENST00000266719	T	0.17054	2.3	5.93	4.04	0.47022	.	0.693406	0.15862	N	0.240985	T	0.15696	0.0378	L	0.44542	1.39	0.21386	N	0.999701	P	0.47106	0.89	B	0.39971	0.315	T	0.05852	-1.0860	10	0.39692	T	0.17	0.0341	11.4563	0.50183	0.1273:0.5669:0.3058:0.0	.	35	O60938	KERA_HUMAN	C	35	ENSP00000266719:W35C	ENSP00000266719:W35C	W	-	3	0	KERA	89974085	0.384000	0.25164	0.001000	0.08648	0.022000	0.10575	1.227000	0.32576	0.745000	0.32763	0.650000	0.86243	TGG		0.413	KERA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407149.2	NM_007035		10	48	1	0	1.76689e-08	1	1.86786e-08	10	48					A	91449954	C	A	91449954	3	1	316	1	0	0	0	0	1	0	0	0	8143	856	30	5	961	5	KERA	12	91449954	Missense_Mutation	SNP	C	TCGA-KK-A6E5-01A-11D-A30X-08	14247119	91449954	42401941	21	16239											
UTP20	27340	broad.mit.edu	37	chr12	101720875	101720875	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcagaattttgtatgggcgaAtgaagaataagactgggagt	14	11	13	3	1	1	4	1	1	0	3	1	6	1	5	0	2	0	1	0	2	6	4			TCGA-KK-A6E5-01A-11D-A30X-08	TCGA-KK-A6E5-11A-12D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a313eac-afe7-4317-ae67-a2eba7cd821f	ae48940c-acd7-4556-ac88-e791eda0f5d0	g.chr12:101720875A>G	ENST00000261637.4	+	26	3232	c.3058A>G	c.(3058-3060)Atg>Gtg	p.M1020V		NM_014503.2	NP_055318.2	O75691	UTP20_HUMAN	UTP20, small subunit (SSU) processome component, homolog (yeast)	1020					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000480)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000447)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000472)|negative regulation of cell proliferation (GO:0008285)|rRNA processing (GO:0006364)	90S preribosome (GO:0030686)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|preribosome, small subunit precursor (GO:0030688)|small-subunit processome (GO:0032040)	poly(A) RNA binding (GO:0044822)			NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						GTATGGGCGAATGAAGAATAA	0.433																																						ENST00000261637.4																			0				NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						c.(3058-3060)Atg>Gtg		UTP20, small subunit (SSU) processome component, homolog (yeast)							75	78	77					12																	101720875		2203	4300	6503	SO:0001583	missense	27340				endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation	90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome	protein binding	g.chr12:101720875A>G	AJ006778	CCDS9081.1	12q23	2006-02-11				ENSG00000120800			17897	protein-coding gene	gene with protein product	"down regulated in metastasis"	612822				9673349, 15590835, 12837249	Standard	NM_014503		Approved	DRIM	uc001tia.1	O75691	OTTHUMG00000170270	ENST00000261637.4:c.3058A>G	12.37:g.101720875A>G	ENSP00000261637:p.Met1020Val						p.M1020V	NM_014503.2	NP_055318.2	O75691	UTP20_HUMAN			26	3232	+			1020					Q9H3H4	Missense_Mutation	SNP	ENST00000261637.4	37	c.3058A>G	CCDS9081.1	.	.	.	.	.	.	.	.	.	.	A	14.05	2.420541	0.42918	.	.	ENSG00000120800	ENST00000261637	T	0.21191	2.02	5.02	5.02	0.67125	Down-regulated-in-metastasis protein (1);Armadillo-type fold (1);	0.084250	0.85682	D	0.000000	T	0.37265	0.0997	M	0.72576	2.205	0.53005	D	0.99996	D	0.58970	0.984	P	0.55615	0.78	T	0.13229	-1.0517	10	0.21540	T	0.41	-27.6309	15.0417	0.71796	1.0:0.0:0.0:0.0	.	1020	O75691	UTP20_HUMAN	V	1020	ENSP00000261637:M1020V	ENSP00000261637:M1020V	M	+	1	0	UTP20	100245006	1.000000	0.71417	1.000000	0.80357	0.400000	0.30750	6.587000	0.74071	2.015000	0.59207	0.254000	0.18369	ATG		0.433	UTP20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408242.1	NM_014503		30	49	0	0	0	1	0	30	49					G	101720875	A	G	101720875	3	3	316	1	0	0	0	0	1	0	0	0	17096	101	4	4	3160	4	UTP20	12	101720875	Missense_Mutation	SNP	A	TCGA-KK-A6E5-01A-11D-A30X-08	10270921	101720875	32131020	22	16240											
C14orf106	55320	broad.mit.edu	37	chr14	45693538	45693538	+	Frame_Shift_Del	DEL	A	A	-																															cctgattttctattttcttcAattttggtaatagtctggta																										TCGA-KK-A6E5-01A-11D-A30X-08	TCGA-KK-A6E5-11A-12D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a313eac-afe7-4317-ae67-a2eba7cd821f	ae48940c-acd7-4556-ac88-e791eda0f5d0	g.chr14:45693538delA	ENST00000310806.4	-	11	2710	c.2252delT	c.(2251-2253)ttgfs	p.L751fs		NM_018353.4	NP_060823.3	Q6P0N0	M18BP_HUMAN	MIS18 binding protein 1	751					CENP-A containing nucleosome assembly (GO:0034080)|mitotic nuclear division (GO:0007067)|nucleosome assembly (GO:0006334)	chromosome, centromeric region (GO:0000775)|nucleoplasm (GO:0005654)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	39						TATTTTCTTCAATTTTGGTAA	0.323																																						ENST00000310806.4																			0				NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	39						c.(2251-2253)tgfs		MIS18 binding protein 1							83	86	85					14																	45693538		2203	4300	6503	SO:0001589	frameshift_variant	55320				cell division|CenH3-containing nucleosome assembly at centromere|mitosis	chromosome, centromeric region|nucleoplasm	DNA binding	g.chr14:45693538delA	AB067490	CCDS9684.1	14q21.1	2011-06-03	2011-02-23	2011-02-23	ENSG00000129534	ENSG00000129534			20190	protein-coding gene	gene with protein product	"kinetochore null 2 homolog (C. elegans)"		"chromosome 14 open reading frame 106"	C14orf106		17339379, 17199038	Standard	NM_018353		Approved	M18BP1, FLJ11186, KIAA1903, KNL2	uc001wwf.3	Q6P0N0	OTTHUMG00000140266	ENST00000310806.4:c.2252delT	14.37:g.45693538delA	ENSP00000309790:p.Leu751fs						p.L751fs	NM_018353.4	NP_060823.3	Q6P0N0	M18BP_HUMAN			11	2710	-			751					D3DSA7|Q86V14|Q96PY4|Q9NUR5|Q9Y4X9	Frame_Shift_Del	DEL	ENST00000310806.4	37	c.2252delT	CCDS9684.1																																																																																				0.323	MIS18BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276795.2			22	48						22	48	---	---	---	---	-	45693538	A	-	45693538	7	5	316	1	0	1	0	1	0	0	0	0	1738	131	5	0	1174	0	C14orf106	14	45693538	Frame_Shift_Del	DEL	A	TCGA-KK-A6E5-01A-11D-A30X-08		45693538	61656002	23	16241											
GLDN	342035	broad.mit.edu	37	chr15	51696486	51696486	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tatttcagatttgaatttggCcaggaaacatcccaaactct	13	13	6	9	0	2	2	1	1	1	1	3	3	3	3	2	2	2	0	2	2	4	4			TCGA-KK-A6E5-01A-11D-A30X-08	TCGA-KK-A6E5-11A-12D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a313eac-afe7-4317-ae67-a2eba7cd821f	ae48940c-acd7-4556-ac88-e791eda0f5d0	g.chr15:51696486C>T	ENST00000335449.6	+	10	1247	c.1191C>T	c.(1189-1191)ggC>ggT	p.G397G	GLDN_ENST00000396399.2_Silent_p.G273G	NM_181789.2	NP_861454.2	Q6ZMI3	GLDN_HUMAN	gliomedin	397	Olfactomedin-like. {ECO:0000255|PROSITE- ProRule:PRU00446}.				clustering of voltage-gated sodium channels (GO:0045162)|heterotypic cell-cell adhesion (GO:0034113)|microvillus organization (GO:0032528)	collagen trimer (GO:0005581)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19				all cancers(107;0.00194)|GBM - Glioblastoma multiforme(94;0.00942)		TTGAATTTGGCCAGGAAACAT	0.358																																						ENST00000335449.6																			0				central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19						c.(1189-1191)ggC>ggT		gliomedin							132	141	138					15																	51696486		2196	4293	6489	SO:0001819	synonymous_variant	342035				cell differentiation|nervous system development	collagen|integral to membrane|plasma membrane		g.chr15:51696486C>T	AY358144	CCDS10140.2	15q15.3	2008-02-05	2005-10-06	2005-10-06	ENSG00000186417	ENSG00000186417			29514	protein-coding gene	gene with protein product		608603	"collomin"	COLM		16039564, 12642876	Standard	XM_005254338		Approved	CRG-L2, CLOM, colmedin, UNC-112	uc002aba.3	Q6ZMI3	OTTHUMG00000131746	ENST00000335449.6:c.1191C>T	15.37:g.51696486C>T						GLDN_ENST00000396399.2_Silent_p.G273G	p.G397G	NM_181789.2	NP_861454.2	Q6ZMI3	GLDN_HUMAN		all cancers(107;0.00194)|GBM - Glioblastoma multiforme(94;0.00942)	10	1247	+			397			Olfactomedin-like.		Q6UXZ7|Q7Z359	Silent	SNP	ENST00000335449.6	37	c.1191C>T	CCDS10140.2																																																																																				0.358	GLDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254667.2	NM_181789		4	128	0	0	0	1	0	4	128					T	51696486	C	T	51696486	2	4	316	1	0	0	0	0	0	0	0	1	6434	726	26	3		3	GLDN	15	51696486	Silent	SNP	C	TCGA-KK-A6E5-01A-11D-A30X-08		51696486	50834906	24	16242											
FAM83G	644815	broad.mit.edu	37	chr17	18874966	18874966	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tttctggtagagctctggacGctgtcagcagcagagcggta	8	10	14	9	2	3	2	1	0	2	2	3	3	3	3	0	3	4	6	0	3	2	3			TCGA-KK-A6E5-01A-11D-A30X-08	TCGA-KK-A6E5-11A-12D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a313eac-afe7-4317-ae67-a2eba7cd821f	ae48940c-acd7-4556-ac88-e791eda0f5d0	g.chr17:18874966G>A	ENST00000388995.6	-	6	2401	c.2178C>T	c.(2176-2178)agC>agT	p.S726S	FAM83G_ENST00000585154.2_Silent_p.S726S|SLC5A10_ENST00000395643.2_Intron|SLC5A10_ENST00000395642.1_Intron|FAM83G_ENST00000345041.4_Silent_p.S726S|SLC5A10_ENST00000317977.6_Intron|SLC5A10_ENST00000395647.2_Intron|SLC5A10_ENST00000417251.2_Intron|SLC5A10_ENST00000395645.3_Intron			A6ND36	FA83G_HUMAN	family with sequence similarity 83, member G	726					BMP signaling pathway (GO:0030509)	cytosol (GO:0005829)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(3)|stomach(1)	22						AGCTCTGGACGCTGTCAGCAG	0.647																																						ENST00000388995.6																			0				central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(3)|stomach(1)	22						c.(2176-2178)agC>agT		family with sequence similarity 83, member G							44	51	49					17																	18874966		1957	4130	6087	SO:0001819	synonymous_variant	644815							g.chr17:18874966G>A	AK123558	CCDS42276.1	17p11.2	2014-05-01	2006-03-22		ENSG00000188522	ENSG00000188522			32554	protein-coding gene	gene with protein product	"protein associated with SMAD1"	615886				24554596	Standard	NM_001039999		Approved	FLJ41564, PAWS1	uc002guw.3	A6ND36	OTTHUMG00000059411	ENST00000388995.6:c.2178C>T	17.37:g.18874966G>A						SLC5A10_ENST00000417251.2_Intron|SLC5A10_ENST00000395642.1_Intron|SLC5A10_ENST00000395643.2_Intron|SLC5A10_ENST00000317977.6_Intron|SLC5A10_ENST00000395647.2_Intron|FAM83G_ENST00000585154.2_Silent_p.S726S|FAM83G_ENST00000345041.4_Silent_p.S726S|SLC5A10_ENST00000395645.3_Intron	p.S726S			A6ND36	FA83G_HUMAN			6	2401	-			726					Q3KQZ4|Q6ZW60	Silent	SNP	ENST00000388995.6	37	c.2178C>T	CCDS42276.1																																																																																				0.647	FAM83G-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253108.4			4	63	0	0	0	1	0	4	63					A	18874966	G	A	18874966	2	1	316	1	0	0	0	0	0	0	0	1	5639	1078	38	1		1	FAM83G	17	18874966	Silent	SNP	G	TCGA-KK-A6E5-01A-11D-A30X-08		18874966	62320244	25	16243											
HEATR6	63897	broad.mit.edu	37	chr17	58134531	58134531	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaaatgcagagtcgaatgaGccagcagggctctgaagacc	13	5	14	9	1	1	4	0	2	1	2	2	6	1	5	2	2	3	3	2	2	3	0	rs117309766		TCGA-KK-A6E5-01A-11D-A30X-08	TCGA-KK-A6E5-11A-12D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a313eac-afe7-4317-ae67-a2eba7cd821f	ae48940c-acd7-4556-ac88-e791eda0f5d0	g.chr17:58134531G>A	ENST00000184956.6	-	12	1973	c.1957C>T	c.(1957-1959)Ctc>Ttc	p.L653F	HEATR6_ENST00000585976.1_Missense_Mutation_p.L653F	NM_022070.4	NP_071353.4	Q6AI08	HEAT6_HUMAN	HEAT repeat containing 6	653							poly(A) RNA binding (GO:0044822)			NS(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	44	all_cancers(5;2.25e-13)|Breast(5;4.84e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		BRCA - Breast invasive adenocarcinoma(1;5.93e-19)|Epithelial(12;7.59e-12)|all cancers(12;1.26e-10)			AGTCGAATGAGCCAGCAGGGC	0.557													G|||	1	0.000199681	0	0	5008	,	,		21151	0.001		0	False		,,,				2504	0					ENST00000184956.6																			0				NS(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	44						c.(1957-1959)Ctc>Ttc		HEAT repeat containing 6							127	119	122					17																	58134531		2203	4300	6503	SO:0001583	missense	63897						binding	g.chr17:58134531G>A	BX640819	CCDS11623.1	17q23.2	2007-05-01				ENSG00000068097			24076	protein-coding gene	gene with protein product	"amplified in breast cancer 1"					12755490	Standard	NM_022070		Approved	ABC1, FLJ22087	uc002iyk.1	Q6AI08		ENST00000184956.6:c.1957C>T	17.37:g.58134531G>A	ENSP00000184956:p.Leu653Phe					HEATR6_ENST00000585976.1_Missense_Mutation_p.L653F	p.L653F	NM_022070.4	NP_071353.4	Q6AI08	HEAT6_HUMAN	BRCA - Breast invasive adenocarcinoma(1;5.93e-19)|Epithelial(12;7.59e-12)|all cancers(12;1.26e-10)		12	1973	-	all_cancers(5;2.25e-13)|Breast(5;4.84e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		653					B3KXP3|Q6MZX1|Q6MZY2|Q8TDM9|Q9H6B3|Q9H6M7	Missense_Mutation	SNP	ENST00000184956.6	37	c.1957C>T	CCDS11623.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	22.9	4.349513	0.82132	.	.	ENSG00000068097	ENST00000184956;ENST00000393017	T	0.48522	0.81	5.3	5.3	0.74995	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.69869	0.3159	M	0.76328	2.33	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.85130	0.982;0.997	T	0.70916	-0.4742	10	0.52906	T	0.07	-12.5889	18.3924	0.90487	0.0:0.0:1.0:0.0	.	500;653	E7ESB9;Q6AI08	.;HEAT6_HUMAN	F	653;500	ENSP00000184956:L653F	ENSP00000184956:L653F	L	-	1	0	HEATR6	55489313	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.728000	0.74769	2.666000	0.90696	0.558000	0.71614	CTC		0.557	HEATR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449165.1	NM_022070		7	110	0	0	0	1	0	7	110					A	58134531	G	A	58134531	3	1	316	1	0	0	0	0	1	0	0	0	7033	971	34	3	1624	3	HEATR6	17	58134531	Missense_Mutation	SNP	G	TCGA-KK-A6E5-01A-11D-A30X-08	39259565	58134531	23060679	26	16244											
ERG	2078	broad.mit.edu	37	chr21	39755838	39755838	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aactgccaaagctggatctgGccactgcctaatgaggtcag	11	8	11	11	0	2	1	1	1	1	0	2	2	2	2	3	3	4	1	3	3	3	1			TCGA-KK-A6E5-01A-11D-A30X-08	TCGA-KK-A6E5-11A-12D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a313eac-afe7-4317-ae67-a2eba7cd821f	ae48940c-acd7-4556-ac88-e791eda0f5d0	g.chr21:39755838G>A	ENST00000417133.2	-	12	1133	c.948C>T	c.(946-948)ggC>ggT	p.G316G	ERG_ENST00000398911.1_Silent_p.G292G|ERG_ENST00000453032.2_Silent_p.G217G|ERG_ENST00000398897.1_Silent_p.G193G|ERG_ENST00000398919.2_Silent_p.G316G|ERG_ENST00000398907.1_Silent_p.G286G|ERG_ENST00000398910.1_Silent_p.G293G|ERG_ENST00000288319.7_Silent_p.G309G|ERG_ENST00000398905.1_Silent_p.G285G|ERG_ENST00000442448.1_Silent_p.G292G	NM_001136154.1|NM_001243432.1	NP_001129626.1|NP_001230361.1	Q12809	KCNH2_HUMAN	v-ets avian erythroblastosis virus E26 oncogene homolog	0					cardiac muscle contraction (GO:0060048)|cellular response to drug (GO:0035690)|membrane depolarization during action potential (GO:0086010)|membrane repolarization during action potential (GO:0086011)|membrane repolarization during cardiac muscle cell action potential (GO:0086013)|negative regulation of potassium ion export (GO:1902303)|negative regulation of potassium ion transmembrane transport (GO:1901380)|positive regulation of potassium ion transmembrane transport (GO:1901381)|potassium ion export (GO:0071435)|potassium ion homeostasis (GO:0055075)|potassium ion transmembrane transport (GO:0071805)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of heart rate by hormone (GO:0003064)|regulation of membrane potential (GO:0042391)|regulation of membrane repolarization (GO:0060306)|regulation of potassium ion transmembrane transport (GO:1901379)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|synaptic transmission (GO:0007268)|ventricular cardiac muscle cell action potential (GO:0086005)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|identical protein binding (GO:0042802)|inward rectifier potassium channel activity (GO:0005242)|phosphorelay sensor kinase activity (GO:0000155)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization (GO:1902282)		EWSR1/ERG(178)|NDRG1/ERG(5)|TMPRSS2/ERG(3582)|FUS/ERG(167)|SLC45A3/ERG(50)	lung(2)|ovary(1)|skin(1)	4		Prostate(19;3.6e-06)			Alfuzosin(DB00346)|Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Cisapride(DB00604)|Dofetilide(DB00204)|Doxazosin(DB00590)|Doxepin(DB01142)|Dronedarone(DB04855)|Halofantrine(DB01218)|Ibutilide(DB00308)|Imipramine(DB00458)|Miconazole(DB01110)|Pimozide(DB01100)|Prazosin(DB00457)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terazosin(DB01162)|Thioridazine(DB00679)|Verapamil(DB00661)	GCTGGATCTGGCCACTGCCTA	0.567			T	"EWSR1, TMPRSS2, ELF4, FUS, HERPUD1, NDRG1"	"Ewing sarcoma, prostate, AML"																																Esophageal Squamous(130;336 1700 3010 3083 40589)	ENST00000442448.1				Dom	yes		21	21q22.3	2078	T	v-ets erythroblastosis virus E26 oncogene like (avian)			"M, E, L"	"EWSR1, TMPRSS2, ELF4, FUS, HERPUD1, NDRG1"		"Ewing sarcoma, prostate, AML"	EWSR1/ERG(178)|NDRG1/ERG(5)|TMPRSS2/ERG(3582)|FUS/ERG(167)|SLC45A3/ERG(50)	0				lung(2)|ovary(1)|skin(1)	4						c.(874-876)ggC>ggT		v-ets avian erythroblastosis virus E26 oncogene homolog							41	41	41					21																	39755838		2203	4300	6503	SO:0001819	synonymous_variant	2078				cell proliferation|multicellular organismal development|protein phosphorylation	cytoplasm|nucleus|ribonucleoprotein complex	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr21:39755838G>A		CCDS13657.1, CCDS13658.1, CCDS46648.1, CCDS46649.1, CCDS58789.1	21q22.3	2013-07-09	2013-07-09		ENSG00000157554	ENSG00000157554			3446	protein-coding gene	gene with protein product	"v-ets avian erythroblastosis virus E26 oncogene related", "transcriptional regulator ERG (transforming protein ERG)", "v-ets erythroblastosis virus E26 oncogene like", "TMPRSS2-ERG prostate cancer specific"	165080	"v-ets avian erythroblastosis virus E26 oncogene related"			3274086	Standard	NM_001136154		Approved	erg-3, p55	uc002yxa.3	P11308	OTTHUMG00000090767	ENST00000417133.2:c.948C>T	21.37:g.39755838G>A						ERG_ENST00000398911.1_Silent_p.G292G|ERG_ENST00000398910.1_Silent_p.G293G|ERG_ENST00000398907.1_Silent_p.G286G|ERG_ENST00000417133.2_Silent_p.G316G|ERG_ENST00000398897.1_Silent_p.G193G|ERG_ENST00000453032.2_Silent_p.G217G|ERG_ENST00000398905.1_Silent_p.G285G|ERG_ENST00000288319.7_Silent_p.G309G|ERG_ENST00000398919.2_Silent_p.G316G	p.G292G	NM_004449.4	NP_004440.1	P11308	ERG_HUMAN			11	1147	-		Prostate(19;3.6e-06)	316					A5H1P7|C4PFH9|D3DX04|O75418|O75680|Q708S9|Q9BT72|Q9BUT7|Q9H3P0	Silent	SNP	ENST00000417133.2	37	c.876C>T	CCDS46648.1																																																																																				0.567	ERG-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207532.2	NM_182918		4	46	0	0	0	1	0	4	46					A	39755838	G	A	39755838	2	1	316	1	0	0	0	0	0	0	0	1	5222	1190	42	3		3	ERG	21	39755838	Silent	SNP	G	TCGA-KK-A6E5-01A-11D-A30X-08		39755838	8374057	27	16245											
PER3	8863	broad.mit.edu	37	chr1	7848219	7848219	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tggcgtcttctcactttgttGacctgcttgcacctcaagac	6	14	8	13	1	3	2	2	1	2	1	4	2	3	2	2	1	2	3	2	1	1	4			TCGA-KK-A6E6-01A-11D-A30X-08	TCGA-KK-A6E6-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a006949-56b7-4774-9768-6f384207ff48	605429ab-6e57-4c37-a6f9-85ef92e057f5	g.chr1:7848219G>C	ENST00000361923.2	+	4	680	c.505G>C	c.(505-507)Gac>Cac	p.D169H	PER3_ENST00000377541.1_Missense_Mutation_p.D169H|PER3_ENST00000377532.3_Missense_Mutation_p.D169H	NM_016831.1	NP_058515.1	P56645	PER3_HUMAN	period circadian clock 3	169	PAS 1. {ECO:0000255|PROSITE- ProRule:PRU00140}.				circadian regulation of gene expression (GO:0032922)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of circadian sleep/wake cycle, sleep (GO:0045187)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	signal transducer activity (GO:0004871)			breast(4)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	39	Ovarian(185;0.0634)|all_lung(157;0.178)	all_epithelial(116;9.35e-21)|all_lung(118;7.57e-07)|Lung NSC(185;4.52e-06)|Renal(390;0.000147)|Breast(487;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|all cancers(8;8.58e-70)|GBM - Glioblastoma multiforme(8;1.81e-35)|Colorectal(212;2.06e-07)|COAD - Colon adenocarcinoma(227;1.92e-05)|Kidney(185;7.18e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000472)|STAD - Stomach adenocarcinoma(132;0.00118)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|READ - Rectum adenocarcinoma(331;0.0649)		TCACTTTGTTGACCTGCTTGC	0.468																																						ENST00000377532.3																			0				breast(4)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	39						c.(505-507)Gac>Cac		period circadian clock 3							147	141	143					1																	7848219		2203	4300	6503	SO:0001583	missense	8863				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	signal transducer activity	g.chr1:7848219G>C	BC026102	CCDS89.1, CCDS72695.1	1p36.23	2012-12-13	2012-12-13		ENSG00000049246	ENSG00000049246			8847	protein-coding gene	gene with protein product		603427	"period (Drosophila) homolog 3", "period homolog 3 (Drosophila)"			9427249	Standard	XM_005263520		Approved		uc001aoo.3	P56645	OTTHUMG00000001216	ENST00000361923.2:c.505G>C	1.37:g.7848219G>C	ENSP00000355031:p.Asp169His					PER3_ENST00000361923.2_Missense_Mutation_p.D169H|PER3_ENST00000377541.1_Missense_Mutation_p.D169H	p.D169H			P56645	PER3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|all cancers(8;8.58e-70)|GBM - Glioblastoma multiforme(8;1.81e-35)|Colorectal(212;2.06e-07)|COAD - Colon adenocarcinoma(227;1.92e-05)|Kidney(185;7.18e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000472)|STAD - Stomach adenocarcinoma(132;0.00118)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|READ - Rectum adenocarcinoma(331;0.0649)	4	729	+	Ovarian(185;0.0634)|all_lung(157;0.178)	all_epithelial(116;9.35e-21)|all_lung(118;7.57e-07)|Lung NSC(185;4.52e-06)|Renal(390;0.000147)|Breast(487;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)	169			PAS 1.		Q5H8X4|Q5H8X5|Q969K6|Q96S77|Q96S78|Q9C0J3|Q9NSP9|Q9UGU8	Missense_Mutation	SNP	ENST00000361923.2	37	c.505G>C	CCDS89.1	.	.	.	.	.	.	.	.	.	.	G	23.3	4.393599	0.83011	.	.	ENSG00000049246	ENST00000377541;ENST00000377532;ENST00000361923	T;T;T	0.38401	1.14;2.62;2.64	5.25	4.34	0.51931	PAS (1);	0.057943	0.64402	D	0.000002	T	0.43919	0.1269	L	0.29908	0.895	0.43830	D	0.996403	D;D;D;D	0.69078	0.991;0.994;0.997;0.991	P;P;D;P	0.63597	0.694;0.825;0.916;0.694	T	0.39981	-0.9587	10	0.72032	D	0.01	.	12.3622	0.55209	0.0811:0.0:0.9189:0.0	.	169;169;169;169	A2I2N5;A6H8X0;P56645-2;P56645	.;.;.;PER3_HUMAN	H	169	ENSP00000366764:D169H;ENSP00000366755:D169H;ENSP00000355031:D169H	ENSP00000355031:D169H	D	+	1	0	PER3	7770806	1.000000	0.71417	0.905000	0.35620	0.916000	0.54674	5.784000	0.68990	2.459000	0.83118	0.650000	0.86243	GAC		0.468	PER3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000003607.1	NM_016831		14	54	0	0	0	1	0	14	54					C	7848219	G	C	7848219	3	2	317	1	0	0	0	0	1	0	0	0	11731	1290	45	5	519	5	PER3	1	7848219	Missense_Mutation	SNP	G	TCGA-KK-A6E6-01A-11D-A30X-08		7848219	241402402	1	16246			1	36		2	2	50	G		8.547044e-05
PER3	8863	broad.mit.edu	37	chr1	7848268	7848268	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	attctacgcgcacactgccaGagctcagcttcctttctgga	8	11	8	14	2	3	1	1	0	2	1	4	2	4	2	2	1	4	3	2	1	1	4			TCGA-KK-A6E6-01A-11D-A30X-08	TCGA-KK-A6E6-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a006949-56b7-4774-9768-6f384207ff48	605429ab-6e57-4c37-a6f9-85ef92e057f5	g.chr1:7848268G>C	ENST00000361923.2	+	4	729	c.554G>C	c.(553-555)aGa>aCa	p.R185T	PER3_ENST00000377541.1_Missense_Mutation_p.R185T|PER3_ENST00000377532.3_Missense_Mutation_p.R185T	NM_016831.1	NP_058515.1	P56645	PER3_HUMAN	period circadian clock 3	185	PAS 1. {ECO:0000255|PROSITE- ProRule:PRU00140}.				circadian regulation of gene expression (GO:0032922)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of circadian sleep/wake cycle, sleep (GO:0045187)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	signal transducer activity (GO:0004871)			breast(4)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	39	Ovarian(185;0.0634)|all_lung(157;0.178)	all_epithelial(116;9.35e-21)|all_lung(118;7.57e-07)|Lung NSC(185;4.52e-06)|Renal(390;0.000147)|Breast(487;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|all cancers(8;8.58e-70)|GBM - Glioblastoma multiforme(8;1.81e-35)|Colorectal(212;2.06e-07)|COAD - Colon adenocarcinoma(227;1.92e-05)|Kidney(185;7.18e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000472)|STAD - Stomach adenocarcinoma(132;0.00118)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|READ - Rectum adenocarcinoma(331;0.0649)		CACACTGCCAGAGCTCAGCTT	0.463																																						ENST00000377532.3																			0				breast(4)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	39						c.(553-555)aGa>aCa		period circadian clock 3							115	102	107					1																	7848268		2203	4300	6503	SO:0001583	missense	8863				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	signal transducer activity	g.chr1:7848268G>C	BC026102	CCDS89.1, CCDS72695.1	1p36.23	2012-12-13	2012-12-13		ENSG00000049246	ENSG00000049246			8847	protein-coding gene	gene with protein product		603427	"period (Drosophila) homolog 3", "period homolog 3 (Drosophila)"			9427249	Standard	XM_005263520		Approved		uc001aoo.3	P56645	OTTHUMG00000001216	ENST00000361923.2:c.554G>C	1.37:g.7848268G>C	ENSP00000355031:p.Arg185Thr					PER3_ENST00000361923.2_Missense_Mutation_p.R185T|PER3_ENST00000377541.1_Missense_Mutation_p.R185T	p.R185T			P56645	PER3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|all cancers(8;8.58e-70)|GBM - Glioblastoma multiforme(8;1.81e-35)|Colorectal(212;2.06e-07)|COAD - Colon adenocarcinoma(227;1.92e-05)|Kidney(185;7.18e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000472)|STAD - Stomach adenocarcinoma(132;0.00118)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|READ - Rectum adenocarcinoma(331;0.0649)	4	778	+	Ovarian(185;0.0634)|all_lung(157;0.178)	all_epithelial(116;9.35e-21)|all_lung(118;7.57e-07)|Lung NSC(185;4.52e-06)|Renal(390;0.000147)|Breast(487;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)	185			PAS 1.		Q5H8X4|Q5H8X5|Q969K6|Q96S77|Q96S78|Q9C0J3|Q9NSP9|Q9UGU8	Missense_Mutation	SNP	ENST00000361923.2	37	c.554G>C	CCDS89.1	.	.	.	.	.	.	.	.	.	.	G	14.92	2.678660	0.47886	.	.	ENSG00000049246	ENST00000377541;ENST00000377532;ENST00000361923	T;T;T	0.29397	1.57;2.97;2.99	5.25	1.87	0.25490	PAS (1);	0.302109	0.32836	N	0.005590	T	0.12561	0.0305	N	0.08118	0	0.23909	N	0.996494	P;P;P;P	0.41643	0.665;0.645;0.758;0.665	B;B;B;B	0.37780	0.157;0.132;0.258;0.157	T	0.11591	-1.0581	10	0.41790	T	0.15	.	4.8788	0.13668	0.6645:0.1993:0.1362:0.0	.	185;185;185;185	A2I2N5;A6H8X0;P56645-2;P56645	.;.;.;PER3_HUMAN	T	185	ENSP00000366764:R185T;ENSP00000366755:R185T;ENSP00000355031:R185T	ENSP00000355031:R185T	R	+	2	0	PER3	7770855	0.001000	0.12720	0.895000	0.35142	0.964000	0.63967	-0.079000	0.11357	0.107000	0.17824	0.650000	0.86243	AGA		0.463	PER3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000003607.1	NM_016831		4	45	0	0	0	1	0	4	45					C	7848268	G	C	7848268	3	2	317	1	0	0	0	0	1	0	0	0	11731	942	33	5	568	5	PER3	1	7848268	Missense_Mutation	SNP	G	TCGA-KK-A6E6-01A-11D-A30X-08	49	7848268	241402353	2	16247			1	36		2	2	50	G		8.547044e-05
UBE4B	10277	broad.mit.edu	37	chr1	10186877	10186877	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatccccattttacaaggccTggctcttgctgccaaagagt	9	12	8	12	0	1	1	0	0	1	1	2	1	2	1	4	2	3	2	4	2	4	4			TCGA-KK-A6E6-01A-11D-A30X-08	TCGA-KK-A6E6-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a006949-56b7-4774-9768-6f384207ff48	605429ab-6e57-4c37-a6f9-85ef92e057f5	g.chr1:10186877T>C	ENST00000253251.8	+	10	2032	c.1193T>C	c.(1192-1194)cTg>cCg	p.L398P	UBE4B_ENST00000475795.1_3'UTR|UBE4B_ENST00000343090.6_Missense_Mutation_p.L527P|UBE4B_ENST00000377157.3_Missense_Mutation_p.L282P					ubiquitination factor E4B											NS(3)|breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(14)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	48		all_lung(284;1.13e-05)|Lung NSC(185;1.74e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0268)|Colorectal(212;1.42e-07)|COAD - Colon adenocarcinoma(227;2.77e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000435)|Kidney(185;0.000482)|KIRC - Kidney renal clear cell carcinoma(229;0.00164)|STAD - Stomach adenocarcinoma(132;0.0117)|READ - Rectum adenocarcinoma(331;0.046)		TTACAAGGCCTGGCTCTTGCT	0.348																																						ENST00000377157.3																			0				NS(3)|breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(14)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	48						c.(844-846)cTg>cCg		ubiquitination factor E4B							93	94	94					1																	10186877		2203	4300	6503	SO:0001583	missense	10277				apoptosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to UV	cytoplasm|ubiquitin ligase complex	enzyme binding	g.chr1:10186877T>C	AF091093	CCDS110.1, CCDS41245.1	1p36.1	2013-01-28	2011-05-19		ENSG00000130939	ENSG00000130939		"U-box domain containing"	12500	protein-coding gene	gene with protein product		613565	"ubiquitination factor E4B (homologous to yeast UFD2)", "ubiquitination factor E4B (UFD2 homolog, yeast)"			9734811, 10089879	Standard	NM_006048		Approved	UBOX3, E4, UFD2, KIAA0684	uc001aqs.4	O95155	OTTHUMG00000001797	ENST00000253251.8:c.1193T>C	1.37:g.10186877T>C	ENSP00000253251:p.Leu398Pro					UBE4B_ENST00000343090.6_Missense_Mutation_p.L527P|UBE4B_ENST00000253251.8_Missense_Mutation_p.L398P|UBE4B_ENST00000475795.1_3'UTR	p.L282P	NM_006048.4	NP_006039.2	O95155	UBE4B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0268)|Colorectal(212;1.42e-07)|COAD - Colon adenocarcinoma(227;2.77e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000435)|Kidney(185;0.000482)|KIRC - Kidney renal clear cell carcinoma(229;0.00164)|STAD - Stomach adenocarcinoma(132;0.0117)|READ - Rectum adenocarcinoma(331;0.046)	10	1906	+		all_lung(284;1.13e-05)|Lung NSC(185;1.74e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)	527						Missense_Mutation	SNP	ENST00000253251.8	37	c.845T>C	CCDS110.1	.	.	.	.	.	.	.	.	.	.	T	27.1	4.796616	0.90453	.	.	ENSG00000130939	ENST00000253251;ENST00000377157;ENST00000343090	T;T;T	0.54675	0.56;0.56;0.59	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	T	0.71508	0.3348	M	0.66939	2.045	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	T	0.74601	-0.3611	10	0.87932	D	0	-16.721	16.1435	0.81544	0.0:0.0:0.0:1.0	.	527;398	O95155;O95155-2	UBE4B_HUMAN;.	P	398;282;527	ENSP00000253251:L398P;ENSP00000366362:L282P;ENSP00000343001:L527P	ENSP00000253251:L398P	L	+	2	0	UBE4B	10109464	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.661000	0.83786	2.212000	0.71576	0.528000	0.53228	CTG		0.348	UBE4B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005017.1	NM_006048		8	66	0	0	0	1	0	8	66					C	10186877	T	C	10186877	3	2	317	1	0	0	0	0	1	0	0	0	16880	1580	55	4	1622	4	UBE4B	1	10186877	Missense_Mutation	SNP	T	TCGA-KK-A6E6-01A-11D-A30X-08	2338609	10186877	239063744	3	16248											
KIAA0319L	79932	broad.mit.edu	37	chr1	35921839	35921839	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccatcagagtctactacagtCaagctatcagggcagagaga	14	7	10	10	0	4	3	3	0	1	3	4	4	4	3	1	1	3	2	1	1	4	3			TCGA-KK-A6E6-01A-11D-A30X-08	TCGA-KK-A6E6-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a006949-56b7-4774-9768-6f384207ff48	605429ab-6e57-4c37-a6f9-85ef92e057f5	g.chr1:35921839C>G	ENST00000325722.3	-	10	1665	c.1431G>C	c.(1429-1431)ttG>ttC	p.L477F	KIAA0319L_ENST00000485551.1_5'UTR|KIAA0319L_ENST00000373266.4_5'Flank	NM_024874.4	NP_079150.3	Q8IZA0	K319L_HUMAN	KIAA0319-like	477	PKD 2. {ECO:0000255|PROSITE- ProRule:PRU00151}.					cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(12)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	34		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				CTACTACAGTCAAGCTATCAG	0.473																																						ENST00000325722.3																			0				breast(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(12)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	34						c.(1429-1431)ttG>ttC		KIAA0319-like							77	73	74					1																	35921839		2203	4300	6503	SO:0001583	missense	79932					cytoplasmic vesicle part|integral to membrane	protein binding	g.chr1:35921839C>G	AY163234	CCDS390.1	1p34.3	2008-10-24			ENSG00000142687	ENSG00000142687			30071	protein-coding gene	gene with protein product		613535				11347906	Standard	NM_024874		Approved	KIAA1837	uc001byx.3	Q8IZA0	OTTHUMG00000004370	ENST00000325722.3:c.1431G>C	1.37:g.35921839C>G	ENSP00000318406:p.Leu477Phe					KIAA0319L_ENST00000485551.1_5'UTR	p.L477F	NM_024874.4	NP_079150.3	Q8IZA0	K319L_HUMAN			10	1665	-		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)	477			PKD 2.		B1AN13|D3DPR8|O95010|Q6PJJ7|Q7L1C9|Q8N2B3|Q8NDA0|Q8WY39|Q8WYZ5|Q96IC3|Q96JJ0|Q9BUW6|Q9H7V0	Missense_Mutation	SNP	ENST00000325722.3	37	c.1431G>C	CCDS390.1	.	.	.	.	.	.	.	.	.	.	C	16.19	3.053036	0.55218	.	.	ENSG00000142687	ENST00000325722;ENST00000426982;ENST00000440579	T;T;T	0.29655	1.56;1.56;1.56	5.29	2.36	0.29203	PKD/Chitinase domain (1);Fibronectin, type III (1);PKD/REJ-like protein (1);PKD domain (1);	0.000000	0.64402	D	0.000002	T	0.65698	0.2716	H	0.97214	3.96	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.70245	-0.4925	10	0.87932	D	0	-6.234	9.1846	0.37163	0.0:0.6784:0.0:0.3216	.	477;477	Q8IZA0-2;Q8IZA0	.;K319L_HUMAN	F	477	ENSP00000318406:L477F;ENSP00000395883:L477F;ENSP00000407576:L477F	ENSP00000318406:L477F	L	-	3	2	KIAA0319L	35694426	0.998000	0.40836	1.000000	0.80357	0.978000	0.69477	0.578000	0.23773	0.310000	0.22990	-0.142000	0.14014	TTG		0.473	KIAA0319L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012684.2	NM_024874		17	33	0	0	0	1	0	17	33					G	35921839	C	G	35921839	3	3	317	1	0	0	0	0	1	0	0	0	8169	825	29	5	1766	5	KIAA0319L	1	35921839	Missense_Mutation	SNP	C	TCGA-KK-A6E6-01A-11D-A30X-08	25734962	35921839	213328782	4	16249											
TIE1	7075	broad.mit.edu	37	chr1	43779603	43779603	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgcatccgcagaagctgcctGcatcggagacgcaccttcac	9	7	10	15	3	1	2	1	0	0	2	3	3	2	2	3	1	4	5	3	1	1	1	rs150268802		TCGA-KK-A6E6-01A-11D-A30X-08	TCGA-KK-A6E6-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a006949-56b7-4774-9768-6f384207ff48	605429ab-6e57-4c37-a6f9-85ef92e057f5	g.chr1:43779603G>T	ENST00000372476.3	+	14	2452	c.2373G>T	c.(2371-2373)ctG>ctT	p.L791L	TIE1_ENST00000433781.2_Silent_p.L436L|TIE1_ENST00000473014.1_3'UTR	NM_001253357.1|NM_005424.4	NP_001240286.1|NP_005415.1	P35590	TIE1_HUMAN	tyrosine kinase with immunoglobulin-like and EGF-like domains 1	791					angiogenesis (GO:0001525)|in utero embryonic development (GO:0001701)|mesoderm development (GO:0007498)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell migration (GO:0030336)|peptidyl-tyrosine phosphorylation (GO:0018108)|plasma membrane fusion (GO:0045026)|response to retinoic acid (GO:0032526)|signal transduction (GO:0007165)|vasculogenesis (GO:0001570)	integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	70	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				GAAGCTGCCTGCATCGGAGAC	0.612																																						ENST00000372476.3																			0				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	70						c.(2371-2373)ctG>ctT		tyrosine kinase with immunoglobulin-like and EGF-like domains 1							74	66	69					1																	43779603		2203	4300	6503	SO:0001819	synonymous_variant	7075				mesoderm development	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity	g.chr1:43779603G>T	BC038239	CCDS482.1	1p34-p33	2013-02-11	2004-12-13	2004-12-14	ENSG00000066056	ENSG00000066056	2.7.10.1	"Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	11809	protein-coding gene	gene with protein product		600222	"tyrosine kinase with immunoglobulin and epidermal growth factor homology domains 1"	TIE		1312667	Standard	NM_005424		Approved	JTK14	uc001ciu.3	P35590	OTTHUMG00000007282	ENST00000372476.3:c.2373G>T	1.37:g.43779603G>T						TIE1_ENST00000433781.2_Silent_p.L436L|TIE1_ENST00000473014.1_3'UTR	p.L791L	NM_001253357.1|NM_005424.4	NP_001240286.1|NP_005415.1	P35590	TIE1_HUMAN			14	2452	+	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)	791					B5A949|B5A950	Silent	SNP	ENST00000372476.3	37	c.2373G>T	CCDS482.1																																																																																				0.612	TIE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019011.1	NM_005424		6	37	1	0	1.26484e-09	1	1.305e-09	6	37					T	43779603	G	T	43779603	2	4	317	1	0	0	0	0	0	0	0	1	15890	1306	46	5		5	TIE1	1	43779603	Silent	SNP	G	TCGA-KK-A6E6-01A-11D-A30X-08	7857764	43779603	205471018	5	16250											
FAM151A	338094	broad.mit.edu	37	chr1	55077406	55077406	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tccgaggcagcctgccacagCgtcaggctgtacctggggac	7	6	14	14	2	1	0	1	0	0	0	2	2	2	1	4	4	4	3	4	4	1	1	rs569041271		TCGA-KK-A6E6-01A-11D-A30X-08	TCGA-KK-A6E6-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a006949-56b7-4774-9768-6f384207ff48	605429ab-6e57-4c37-a6f9-85ef92e057f5	g.chr1:55077406C>T	ENST00000302250.2	-	6	973	c.813G>A	c.(811-813)acG>acA	p.T271T	ACOT11_ENST00000371316.3_Intron|FAM151A_ENST00000371304.2_Silent_p.T271T	NM_176782.2	NP_788954.2	Q8WW52	F151A_HUMAN	family with sequence similarity 151, member A	271						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	12						CCTGCCACAGCGTCAGGCTGT	0.597																																						ENST00000302250.2																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	12						c.(811-813)acG>acA		family with sequence similarity 151, member A							86	80	82					1																	55077406		2203	4300	6503	SO:0001819	synonymous_variant	338094					integral to membrane		g.chr1:55077406C>T	AK091901	CCDS594.1	1p32.3	2008-02-05	2007-12-18	2007-12-18	ENSG00000162391	ENSG00000162391			25032	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 179"	C1orf179		17273976	Standard	NM_176782		Approved	MGC27169	uc001cxn.3	Q8WW52	OTTHUMG00000009888	ENST00000302250.2:c.813G>A	1.37:g.55077406C>T						FAM151A_ENST00000371304.2_Silent_p.T271T|ACOT11_ENST00000371316.3_Intron	p.T271T	NM_176782.2	NP_788954.2	Q8WW52	F151A_HUMAN			6	973	-			271					Q5VUG5|Q6DKH5|Q6UWV0|Q8NAX9|Q96KY5	Silent	SNP	ENST00000302250.2	37	c.813G>A	CCDS594.1																																																																																				0.597	FAM151A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027342.1	NM_176782		8	59	0	0	0	1	0	8	59					T	55077406	C	T	55077406	2	4	317	1	0	0	0	0	0	0	0	1	5458	755	27	1		1	FAM151A	1	55077406	Silent	SNP	C	TCGA-KK-A6E6-01A-11D-A30X-08	11297803	55077406	194173215	6	16251											
OR10R2	343406	broad.mit.edu	37	chr1	158450409	158450409	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctgaggactatcctgaagAttccctcagctgagggcaga	10	10	11	10	0	2	5	1	3	1	2	4	6	4	6	2	2	1	2	2	2	2	3			TCGA-KK-A6E6-01A-11D-A30X-08	TCGA-KK-A6E6-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a006949-56b7-4774-9768-6f384207ff48	605429ab-6e57-4c37-a6f9-85ef92e057f5	g.chr1:158450409A>C	ENST00000368152.1	+	1	742	c.742A>C	c.(742-744)Att>Ctt	p.I248L	RP11-144L1.4_ENST00000426251.1_RNA|RP11-144L1.4_ENST00000419738.1_RNA	NM_001004472.1	NP_001004472.1	Q8NGX6	O10R2_HUMAN	olfactory receptor, family 10, subfamily R, member 2	248						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(26)|pancreas(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	41	all_hematologic(112;0.0378)					TATCCTGAAGATTCCCTCAGC	0.438																																						ENST00000368152.1																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(26)|pancreas(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	41						c.(742-744)Att>Ctt		olfactory receptor, family 10, subfamily R, member 2							169	141	150					1																	158450409		2203	4300	6503	SO:0001583	missense	343406				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158450409A>C	AB065640	CCDS30898.1	1q23.1	2012-08-09			ENSG00000198965	ENSG00000198965		"GPCR / Class A : Olfactory receptors"	14820	protein-coding gene	gene with protein product							Standard	NM_001004472		Approved	OR10R2Q	uc010pik.2	Q8NGX6	OTTHUMG00000019632	ENST00000368152.1:c.742A>C	1.37:g.158450409A>C	ENSP00000357134:p.Ile248Leu					RP11-144L1.4_ENST00000426251.1_RNA|RP11-144L1.4_ENST00000419738.1_RNA	p.I248L	NM_001004472.1	NP_001004472.1	Q8NGX6	O10R2_HUMAN			1	742	+	all_hematologic(112;0.0378)		248					Q5VWM8|Q6IFS1|Q96R61	Missense_Mutation	SNP	ENST00000368152.1	37	c.742A>C	CCDS30898.1	.	.	.	.	.	.	.	.	.	.	a	17.40	3.379058	0.61735	.	.	ENSG00000198965	ENST00000368152	T	0.00262	8.4	4.2	4.2	0.49525	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00241	0.0007	M	0.73962	2.25	0.22961	N	0.998502	D	0.60575	0.988	D	0.70935	0.971	T	0.51244	-0.8730	9	0.35671	T	0.21	.	12.409	0.55455	1.0:0.0:0.0:0.0	.	248	Q8NGX6	O10R2_HUMAN	L	248	ENSP00000357134:I248L	ENSP00000357134:I248L	I	+	1	0	OR10R2	156717033	0.160000	0.22878	0.995000	0.50966	0.796000	0.44982	1.898000	0.39809	1.735000	0.51646	0.533000	0.62120	ATT		0.438	OR10R2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051847.2	NM_001004472		10	75	0	0	0	1	0	10	75					C	158450409	A	C	158450409	3	2	317	1	0	0	0	0	1	0	0	0	10917	333	12	5	744	5	OR10R2	1	158450409	Missense_Mutation	SNP	A	TCGA-KK-A6E6-01A-11D-A30X-08	103373003	158450409	90800212	7	16252											
SLC9A11	284525	broad.mit.edu	37	chr1	173556842	173556842	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcacagaacgaagaggatctAtaatgccaagggtgatgcta	15	8	11	7	1	2	3	1	1	1	2	2	5	2	4	1	2	3	1	1	2	6	3			TCGA-KK-A6E6-01A-11D-A30X-08	TCGA-KK-A6E6-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a006949-56b7-4774-9768-6f384207ff48	605429ab-6e57-4c37-a6f9-85ef92e057f5	g.chr1:173556842A>G	ENST00000367714.3	-	5	907	c.485T>C	c.(484-486)aTa>aCa	p.I162T	SLC9C2_ENST00000536496.1_Missense_Mutation_p.I60T|RP3-436N22.3_ENST00000431459.1_RNA	NM_178527.3	NP_848622.2	Q5TAH2	SL9C2_HUMAN	solute carrier family 9, member C2 (putative)	162					sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)	solute:proton antiporter activity (GO:0015299)										AAGAGGATCTATAATGCCAAG	0.318																																						ENST00000367714.3																			0											c.(484-486)aTa>aCa		solute carrier family 9, member C2 (putative)							105	109	108					1																	173556842		2203	4300	6503	SO:0001583	missense	284525				sodium ion transport	integral to membrane	ion channel activity|solute:hydrogen antiporter activity	g.chr1:173556842A>G	AK128104	CCDS1308.1	1q25.1	2013-07-18	2013-07-18	2012-03-22	ENSG00000162753	ENSG00000162753		"Solute carriers"	28664	protein-coding gene	gene with protein product			"solute carrier family 9, isoform 11", "solute carrier family 9, member 11", "solute carrier family 9, member C2"	SLC9A11			Standard	NM_178527		Approved	MGC43026	uc001giz.2	Q5TAH2	OTTHUMG00000034800	ENST00000367714.3:c.485T>C	1.37:g.173556842A>G	ENSP00000356687:p.Ile162Thr					RP3-436N22.3_ENST00000431459.1_RNA|SLC9C2_ENST00000536496.1_Missense_Mutation_p.I60T	p.I162T	NM_178527.3	NP_848622.2	Q5TAH2	S9A11_HUMAN			5	907	-			162					Q86UF3	Missense_Mutation	SNP	ENST00000367714.3	37	c.485T>C	CCDS1308.1	.	.	.	.	.	.	.	.	.	.	A	0.003	-2.432020	0.00184	.	.	ENSG00000162753	ENST00000367714;ENST00000536496	T;T	0.08634	3.07;3.07	5.59	-0.713	0.11223	Cation/H+ exchanger (1);	0.669528	0.14149	N	0.338179	T	0.00412	0.0013	N	0.00289	-1.7	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.40496	-0.9560	10	0.02654	T	1	-5.6185	8.7044	0.34345	0.5232:0.0:0.4768:0.0	.	162	Q5TAH2	S9A11_HUMAN	T	162;60	ENSP00000356687:I162T;ENSP00000445437:I60T	ENSP00000356687:I162T	I	-	2	0	SLC9A11	171823465	0.852000	0.29690	0.002000	0.10522	0.031000	0.12232	0.397000	0.20883	-0.406000	0.07588	-0.202000	0.12741	ATA		0.318	SLC9C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084205.1	NM_178527		6	66	0	0	0	1	0	6	66					G	173556842	A	G	173556842	3	3	317	1	0	0	0	0	1	0	0	0	14711	449	16	4	2985	4	SLC9A11	1	173556842	Missense_Mutation	SNP	A	TCGA-KK-A6E6-01A-11D-A30X-08	15106433	173556842	75693779	8	16253											
PTPRC	5788	broad.mit.edu	37	chr1	198703477	198703477	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtcccagggatgaaactgttGatgatttctggaggatgatt	10	13	13	5	0	1	4	0	4	1	0	2	7	2	7	1	3	1	1	1	3	1	3			TCGA-KK-A6E6-01A-11D-A30X-08	TCGA-KK-A6E6-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a006949-56b7-4774-9768-6f384207ff48	605429ab-6e57-4c37-a6f9-85ef92e057f5	g.chr1:198703477G>C	ENST00000367376.2	+	22	2365	c.2194G>C	c.(2194-2196)Gat>Cat	p.D732H	PTPRC_ENST00000442510.2_Missense_Mutation_p.D734H|PTPRC_ENST00000348564.6_Missense_Mutation_p.D573H|PTPRC_ENST00000352140.3_Missense_Mutation_p.D684H|PTPRC_ENST00000594404.1_Missense_Mutation_p.D571H	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	732	Tyrosine-protein phosphatase 1. {ECO:0000255|PROSITE-ProRule:PRU00160}.				axon guidance (GO:0007411)|B cell proliferation (GO:0042100)|B cell receptor signaling pathway (GO:0050853)|bone marrow development (GO:0048539)|cell cycle phase transition (GO:0044770)|cell surface receptor signaling pathway (GO:0007166)|defense response to virus (GO:0051607)|dephosphorylation (GO:0016311)|hematopoietic progenitor cell differentiation (GO:0002244)|immunoglobulin biosynthetic process (GO:0002378)|negative regulation of cell adhesion involved in substrate-bound cell migration (GO:0006933)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of T cell mediated cytotoxicity (GO:0001915)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of antigen receptor-mediated signaling pathway (GO:0050857)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of hematopoietic stem cell migration (GO:2000473)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of stem cell proliferation (GO:2000648)|positive regulation of T cell proliferation (GO:0042102)|protein dephosphorylation (GO:0006470)|regulation of cell cycle (GO:0051726)|release of sequestered calcium ion into cytosol (GO:0051209)|stem cell development (GO:0048864)|T cell differentiation (GO:0030217)|T cell receptor signaling pathway (GO:0050852)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						TGAAACTGTTGATGATTTCTG	0.348																																						ENST00000367376.2																			0				breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						c.(2194-2196)Gat>Cat		protein tyrosine phosphatase, receptor type, C							309	318	315					1																	198703477		2203	4299	6502	SO:0001583	missense	5788				axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway	focal adhesion|integral to plasma membrane|membrane raft	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr1:198703477G>C	Y00062	CCDS1397.1, CCDS1398.1, CCDS44291.1, CCDS1397.2, CCDS1398.2, CCDS44291.2	1q31-q32	2014-09-17			ENSG00000081237	ENSG00000081237		"CD molecules", "Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Fibronectin type III domain containing"	9666	protein-coding gene	gene with protein product		151460		CD45		2169617	Standard	NM_001267798		Approved	LCA, T200, GP180	uc001gur.2	P08575	OTTHUMG00000035702	ENST00000367376.2:c.2194G>C	1.37:g.198703477G>C	ENSP00000356346:p.Asp732His					PTPRC_ENST00000348564.6_Missense_Mutation_p.D573H|PTPRC_ENST00000442510.2_Missense_Mutation_p.D734H|PTPRC_ENST00000352140.3_Missense_Mutation_p.D684H|PTPRC_ENST00000594404.1_Missense_Mutation_p.D571H	p.D732H	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN			22	2365	+			732			Tyrosine-protein phosphatase 1.		A8K7W6|Q16614|Q9H0Y6	Missense_Mutation	SNP	ENST00000367376.2	37	c.2194G>C		.	.	.	.	.	.	.	.	.	.	G	16.94	3.259828	0.59321	.	.	ENSG00000081237	ENST00000367376;ENST00000367366;ENST00000352140;ENST00000535566;ENST00000442510;ENST00000367367;ENST00000348564	D	0.83992	-1.79	5.73	4.81	0.61882	Protein-tyrosine phosphatase, receptor/non-receptor type (4);	0.000000	0.48286	D	0.000185	D	0.85239	0.5651	L	0.38649	1.16	0.45427	D	0.998409	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.79108	0.985;0.992;0.992;0.992	D	0.85249	0.1043	10	0.66056	D	0.02	.	9.9657	0.41723	0.0703:0.0:0.7943:0.1355	.	668;573;684;732	F5GXZ3;B1ALS3;E9PC28;P08575	.;.;.;PTPRC_HUMAN	H	734;668;684;684;732;666;571	ENSP00000193532:D684H	ENSP00000306782:D571H	D	+	1	0	PTPRC	196970100	1.000000	0.71417	1.000000	0.80357	0.807000	0.45602	2.506000	0.45433	2.698000	0.92095	0.591000	0.81541	GAT		0.348	PTPRC-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding				14	401	0	0	0	1	0	14	401					C	198703477	G	C	198703477	3	2	317	1	0	0	0	0	1	0	0	0	12797	1290	45	5	2287	5	PTPRC	1	198703477	Missense_Mutation	SNP	G	TCGA-KK-A6E6-01A-11D-A30X-08	25146635	198703477	50547144	9	16254											
RBBP5	5929	broad.mit.edu	37	chr1	205068139	205068144	+	In_Frame_Del	DEL	ATCTTC	ATCTTC	-																															gtctgctcaggctcactcttAtcttcatcttcaatatcaaa																										TCGA-KK-A6E6-01A-11D-A30X-08	TCGA-KK-A6E6-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a006949-56b7-4774-9768-6f384207ff48	605429ab-6e57-4c37-a6f9-85ef92e057f5	g.chr1:205068139_205068144delATCTTC	ENST00000264515.6	-	10	1210_1215	c.1069_1074delGAAGAT	c.(1069-1074)gaagatdel	p.ED357del	RBBP5_ENST00000367164.1_In_Frame_Del_p.ED357del	NM_001193273.1|NM_005057.3	NP_001180202.1|NP_005048.2	Q15291	RBBP5_HUMAN	retinoblastoma binding protein 5	357					cellular response to DNA damage stimulus (GO:0006974)|histone H3-K4 methylation (GO:0051568)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|MLL1 complex (GO:0071339)|nucleolus (GO:0005730)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)	methylated histone binding (GO:0035064)|transcription regulatory region DNA binding (GO:0044212)			cervix(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	27	Breast(84;0.0505)		BRCA - Breast invasive adenocarcinoma(75;0.0923)			GCTCACTCTTATCTTCATCTTCAATA	0.35																																						ENST00000264515.6																			0				cervix(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	27						c.(1069-1074)del		retinoblastoma binding protein 5																																				SO:0001651	inframe_deletion	5929				histone H3-K4 methylation|regulation of transcription, DNA-dependent|response to estrogen stimulus|transcription, DNA-dependent	MLL1 complex|Set1C/COMPASS complex	methylated histone residue binding|transcription regulatory region DNA binding	g.chr1:205068139_205068144delATCTTC	BC053856	CCDS30983.1, CCDS53463.1	1q32	2013-01-10	2001-11-28		ENSG00000117222	ENSG00000117222		"WD repeat domain containing"	9888	protein-coding gene	gene with protein product	"SWD1, Set1c WD40 repeat protein, homolog (S. cerevisiae)"	600697	"retinoblastoma-binding protein 5"			7558034	Standard	NM_005057		Approved	RBQ3, SWD1	uc001hbu.2	Q15291	OTTHUMG00000037104	ENST00000264515.6:c.1069_1074delGAAGAT	1.37:g.205068145_205068150delATCTTC	ENSP00000264515:p.Glu357_Asp358del					RBBP5_ENST00000367164.1_In_Frame_Del_p.ED357del	p.ED357del	NM_001193273.1|NM_005057.3	NP_001180202.1|NP_005048.2	Q15291	RBBP5_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.0923)		10	1210_1215	-	Breast(84;0.0505)		357					A8K272|Q7Z6D8|Q8NDZ7	In_Frame_Del	DEL	ENST00000264515.6	37	c.1069_1074delGAAGAT	CCDS30983.1																																																																																				0.35	RBBP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090077.1	NM_005057		13	62						13	62	---	---	---	---	-	205068144	ATCTTC	-	205068139	7	5	317	1	0	1	0	1	0	0	0	0	13102	446	16	0	562	0	RBBP5	1	205068139	In_Frame_Del	DEL	ATCTTC	TCGA-KK-A6E6-01A-11D-A30X-08	6364662	205068139	44182482	10	16255											
LAMB3	3914	broad.mit.edu	37	chr1	209804013	209804013	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtctccagggccggttgttgTagaagggtgcacagcgctca	7	9	15	10	2	2	1	1	0	1	1	3	1	2	1	2	3	2	5	2	3	2	3			TCGA-KK-A6E6-01A-11D-A30X-08	TCGA-KK-A6E6-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a006949-56b7-4774-9768-6f384207ff48	605429ab-6e57-4c37-a6f9-85ef92e057f5	g.chr1:209804013T>G	ENST00000356082.4	-	9	1024	c.890A>C	c.(889-891)tAc>tCc	p.Y297S	LAMB3_ENST00000367030.3_Missense_Mutation_p.Y297S|LAMB3_ENST00000391911.1_Missense_Mutation_p.Y297S	NM_000228.2	NP_000219.2	Q13751	LAMB3_HUMAN	laminin, beta 3	297	Laminin EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00460}.				brown fat cell differentiation (GO:0050873)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	extracellular region (GO:0005576)|laminin-5 complex (GO:0005610)	structural molecule activity (GO:0005198)			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				OV - Ovarian serous cystadenocarcinoma(81;0.0519)		CCGGTTGTTGTAGAAGGGTGC	0.612																																						ENST00000391911.1																			0				NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						c.(889-891)tAc>tCc		laminin, beta 3							58	58	58					1																	209804013		2203	4300	6503	SO:0001583	missense	3914				cell adhesion|epidermis development|hemidesmosome assembly		structural molecule activity	g.chr1:209804013T>G	D37766	CCDS1487.1	1q32	2013-03-01	2002-08-29		ENSG00000196878	ENSG00000196878		"Laminins"	6490	protein-coding gene	gene with protein product		150310	"laminin, beta 3 (nicein (125kD), kalinin (140kD), BM600 (125kD))"	LAMNB1		8088808, 7774918	Standard	NM_001127641		Approved	nicein-125kDa, kalinin-140kDa, BM600-125kDa	uc001hhh.3	Q13751	OTTHUMG00000036360	ENST00000356082.4:c.890A>C	1.37:g.209804013T>G	ENSP00000348384:p.Tyr297Ser					LAMB3_ENST00000367030.3_Missense_Mutation_p.Y297S|LAMB3_ENST00000356082.4_Missense_Mutation_p.Y297S	p.Y297S	NM_001017402.1	NP_001017402.1	Q13751	LAMB3_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0519)	8	1279	-			297			Laminin EGF-like 1.		D3DT88|O14947|Q14733|Q9UJK4|Q9UJL1	Missense_Mutation	SNP	ENST00000356082.4	37	c.890A>C	CCDS1487.1	.	.	.	.	.	.	.	.	.	.	T	18.00	3.525786	0.64860	.	.	ENSG00000196878	ENST00000391911;ENST00000356082;ENST00000367030	T;T;T	0.72394	-0.65;-0.65;-0.65	4.95	4.95	0.65309	EGF-like, laminin (4);	0.137456	0.49916	D	0.000134	D	0.84786	0.5549	H	0.96080	3.765	0.49798	D	0.999829	D;P	0.54601	0.967;0.942	P;P	0.54759	0.76;0.76	D	0.88400	0.3014	10	0.87932	D	0	.	9.9787	0.41800	0.1511:0.0:0.0:0.8489	.	297;297	B4DL55;Q13751	.;LAMB3_HUMAN	S	297	ENSP00000375778:Y297S;ENSP00000348384:Y297S;ENSP00000355997:Y297S	ENSP00000348384:Y297S	Y	-	2	0	LAMB3	207870636	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	1.598000	0.36740	2.004000	0.58718	0.529000	0.55759	TAC		0.612	LAMB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088525.2	NM_000228		4	32	0	0	0	1	0	4	32					G	209804013	T	G	209804013	3	3	317	1	0	0	0	0	1	0	0	0	8612	1638	57	5	2688	5	LAMB3	1	209804013	Missense_Mutation	SNP	T	TCGA-KK-A6E6-01A-11D-A30X-08	4735874	209804013	39446608	11	16256											
KCNF1	3754	broad.mit.edu	37	chr2	11053815	11053815	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aagcagcgcgtcctggagacCgcggccaagcacgagctgga	10	3	15	13	5	0	1	0	0	0	1	1	4	1	2	3	3	4	3	3	3	2	0	rs144040411	byFrequency	TCGA-KK-A6E6-01A-11D-A30X-08	TCGA-KK-A6E6-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a006949-56b7-4774-9768-6f384207ff48	605429ab-6e57-4c37-a6f9-85ef92e057f5	g.chr2:11053815C>T	ENST00000295082.1	+	1	1753	c.1263C>T	c.(1261-1263)acC>acT	p.T421T		NM_002236.4	NP_002227.2	Q9H3M0	KCNF1_HUMAN	potassium voltage-gated channel, subfamily F, member 1	421					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)			NS(1)|endometrium(2)|large_intestine(2)|lung(10)|ovary(2)|skin(1)|urinary_tract(1)	19	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.128)		TCCTGGAGACCGCGGCCAAGC	0.617																																						ENST00000295082.1																			0				NS(1)|endometrium(2)|large_intestine(2)|lung(10)|ovary(2)|skin(1)|urinary_tract(1)	19						c.(1261-1263)acC>acT		potassium voltage-gated channel, subfamily F, member 1							92	76	82					2																	11053815		2203	4300	6503	SO:0001819	synonymous_variant	3754					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr2:11053815C>T	AF033382	CCDS1676.1	2p25	2011-07-05			ENSG00000162975	ENSG00000162975		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6246	protein-coding gene	gene with protein product		603787		KCNF		9434767, 16382104	Standard	NM_002236		Approved	Kv5.1, kH1, IK8	uc002rax.3	Q9H3M0	OTTHUMG00000119054	ENST00000295082.1:c.1263C>T	2.37:g.11053815C>T							p.T421T	NM_002236.4	NP_002227.2	Q9H3M0	KCNF1_HUMAN		Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.128)	1	1753	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)		421					O43527|Q585L3	Silent	SNP	ENST00000295082.1	37	c.1263C>T	CCDS1676.1																																																																																				0.617	KCNF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239265.1	NM_002236		8	36	0	0	0	1	0	8	36					T	11053815	C	T	11053815	2	4	317	1	0	0	0	0	0	0	0	1	8026	639	23	2		2	KCNF1	2	11053815	Silent	SNP	C	TCGA-KK-A6E6-01A-11D-A30X-08		11053815	232145558	12	16257											
AGBL5	60509	broad.mit.edu	37	chr2	27277614	27277614	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgagaagatcgagagccccGtctagagcagctatttcctg	10	9	11	11	3	1	4	0	0	1	4	4	6	2	4	3	0	3	2	3	0	3	3			TCGA-KK-A6E6-01A-11D-A30X-08	TCGA-KK-A6E6-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a006949-56b7-4774-9768-6f384207ff48	605429ab-6e57-4c37-a6f9-85ef92e057f5	g.chr2:27277614G>A	ENST00000360131.4	+	5	827	c.668G>A	c.(667-669)cGt>cAt	p.R223H	RP11-503P10.1_ENST00000607407.1_RNA|AGBL5_ENST00000323064.8_Missense_Mutation_p.R223H	NM_021831.5	NP_068603.4	Q8NDL9	CBPC5_HUMAN	ATP/GTP binding protein-like 5	223					protein branching point deglutamylation (GO:0035611)|protein deglutamylation (GO:0035608)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	metallocarboxypeptidase activity (GO:0004181)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|pancreas(1)|prostate(2)|skin(1)	28	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CGAGAGCCCCGTCTAGAGCAG	0.502																																						ENST00000360131.4																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|pancreas(1)|prostate(2)|skin(1)	28						c.(667-669)cGt>cAt		ATP/GTP binding protein-like 5							130	128	129					2																	27277614		2203	4300	6503	SO:0001583	missense	60509				protein branching point deglutamylation|proteolysis	cytosol|nucleus	metallocarboxypeptidase activity|tubulin binding|zinc ion binding	g.chr2:27277614G>A	BC007415	CCDS1732.3, CCDS42665.1	2p23.3	2014-06-23			ENSG00000084693	ENSG00000084693			26147	protein-coding gene	gene with protein product	"cytosolic carboxypeptidase 5"	615900				24022482	Standard	NM_001035507		Approved	FLJ21839, CCP5	uc002rie.3	Q8NDL9	OTTHUMG00000128406	ENST00000360131.4:c.668G>A	2.37:g.27277614G>A	ENSP00000353249:p.Arg223His					AGBL5_ENST00000323064.8_Missense_Mutation_p.R223H	p.R223H	NM_021831.5	NP_068603.4	Q8NDL9	CBPC5_HUMAN			5	827	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		223					A2VDI7|B7WPG9|B7Z7I7|D6W548|Q53SW0|Q53SZ0|Q96IK8|Q9H6V0|Q9H8P8	Missense_Mutation	SNP	ENST00000360131.4	37	c.668G>A	CCDS1732.3	.	.	.	.	.	.	.	.	.	.	G	34	5.296096	0.95574	.	.	ENSG00000084693	ENST00000323064;ENST00000360131	T;T	0.16324	2.38;2.35	6.08	6.08	0.98989	.	0.044702	0.85682	D	0.000000	T	0.41558	0.1164	L	0.54863	1.705	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;0.999	T	0.03717	-1.1010	10	0.72032	D	0.01	-15.3413	20.2585	0.98435	0.0:0.0:1.0:0.0	.	223;223;223	Q8NDL9;Q8NDL9-3;Q8NDL9-2	CBPC5_HUMAN;.;.	H	223	ENSP00000323681:R223H;ENSP00000353249:R223H	ENSP00000323681:R223H	R	+	2	0	AGBL5	27131118	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.476000	0.97823	2.894000	0.99253	0.655000	0.94253	CGT		0.502	AGBL5-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000309033.1	NM_021831		35	84	0	0	0	1	0	35	84					A	27277614	G	A	27277614	3	1	317	1	0	0	0	0	1	0	0	0	378	1145	40	1	682	1	AGBL5	2	27277614	Missense_Mutation	SNP	G	TCGA-KK-A6E6-01A-11D-A30X-08	16223799	27277614	215921759	13	16258											
ANKRD36	375248	broad.mit.edu	37	chr2	97858738	97858738	+	Frame_Shift_Del	DEL	T	T	-																															gctacaagtgacgaggaaggTtctgttttgagtatagccag																										TCGA-KK-A6E6-01A-11D-A30X-08	TCGA-KK-A6E6-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a006949-56b7-4774-9768-6f384207ff48	605429ab-6e57-4c37-a6f9-85ef92e057f5	g.chr2:97858738delT	ENST00000461153.2	+	38	2641	c.2397delT	c.(2395-2397)ggtfs	p.G799fs	ANKRD36_ENST00000420699.2_Frame_Shift_Del_p.G799fs			A6QL64	AN36A_HUMAN	ankyrin repeat domain 36	799										endometrium(9)|kidney(5)|liver(1)|lung(3)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23						ACGAGGAAGGTTCTGTTTTGA	0.313																																						ENST00000420699.2																			0				endometrium(9)|kidney(5)|liver(1)|lung(3)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23						c.(2395-2397)ggfs		ankyrin repeat domain 36							48	40	42					2																	97858738		692	1590	2282	SO:0001589	frameshift_variant	375248							g.chr2:97858738delT	BC046186	CCDS54379.1	2q11.2	2013-09-24			ENSG00000135976	ENSG00000135976		"Ankyrin repeat domain containing"	24079	protein-coding gene	gene with protein product						12975309	Standard	NM_001164315		Approved	UNQ2430	uc010yva.2	A6QL64	OTTHUMG00000155256	ENST00000461153.2:c.2397delT	2.37:g.97858738delT	ENSP00000419530:p.Gly799fs					ANKRD36_ENST00000461153.2_Frame_Shift_Del_p.G799fs	p.G799fs	NM_001164315.1	NP_001157787.1	A6QL64	AN36A_HUMAN			38	2641	+			799					B4E3I8|Q6UX02|Q86X62|Q9HCD1	Frame_Shift_Del	DEL	ENST00000461153.2	37	c.2397delT	CCDS54379.1																																																																																				0.313	ANKRD36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339154.5			2	4						2	4	---	---	---	---	-	97858738	T	-	97858738	7	5	317	1	0	1	0	1	0	0	0	0	665	1712	60	0	2547	0	ANKRD36	2	97858738	Frame_Shift_Del	DEL	T	TCGA-KK-A6E6-01A-11D-A30X-08	70581124	97858738	145340635	14	16259											
ALS2CR4	65062	broad.mit.edu	37	chr2	202496776	202496777	+	Frame_Shift_Ins	INS	-	-	T																															acaaggcatctacttacggcINSttttttccacaaatactttg																								rs80208774		TCGA-KK-A6E6-01A-11D-A30X-08	TCGA-KK-A6E6-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a006949-56b7-4774-9768-6f384207ff48	605429ab-6e57-4c37-a6f9-85ef92e057f5	g.chr2:202496776_202496777insT	ENST00000409883.2	-	7	666_667	c.550_551insA	c.(550-552)agcfs	p.S184fs	TMEM237_ENST00000409444.2_Frame_Shift_Ins_p.S176fs|TMEM237_ENST00000466839.1_5'Flank	NM_001044385.2	NP_001037850.1	Q96Q45	TM237_HUMAN	transmembrane protein 237	184					cilium assembly (GO:0042384)|regulation of Wnt signaling pathway (GO:0030111)	ciliary transition zone (GO:0035869)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				endometrium(2)|kidney(1)|large_intestine(1)|lung(3)	7						CTACTTACGGCTTTTTTCCACA	0.376																																						ENST00000409444.2																			0				endometrium(2)|kidney(1)|large_intestine(1)|lung(3)	7						c.(526-528)ccgfs		transmembrane protein 237																																				SO:0001589	frameshift_variant	65062					integral to membrane	protein binding	g.chr2:202496776_202496777insT	AB053301	CCDS46489.1, CCDS46490.1	2q33	2012-05-08	2011-05-20	2011-05-20	ENSG00000155755	ENSG00000155755			14432	protein-coding gene	gene with protein product		614423	"amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 4"	ALS2CR4		11586298, 20375344	Standard	NM_001044385		Approved	JBTS14	uc021vvg.2	Q96Q45	OTTHUMG00000154526	ENST00000409883.2:c.551dupA	2.37:g.202496782_202496782dupT	ENSP00000386264:p.Ser184fs					TMEM237_ENST00000409883.2_Frame_Shift_Ins_p.P184fs	p.P176fs	NM_152388.3	NP_689601.2	Q96Q45	TM237_HUMAN			7	843_844	-			208					B4E1R8|B4E2R8|E9PAR8|E9PBF8|E9PG24|E9PGX0|Q53TS9|Q53TT2|Q7Z3B6|Q8IZ18|Q8NBF8|Q96CY1	Frame_Shift_Ins	INS	ENST00000409883.2	37	c.526_527insA	CCDS46489.1																																																																																				0.376	TMEM237-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000335753.1	NM_152388		21	116						21	116	---	---	---	---	T	202496777	-	T	202496776	7	5	317	1	0	1	1	0	0	0	0	0	554	797	28	0	703	0	ALS2CR4	2	202496776	Frame_Shift_Ins	INS	-	TCGA-KK-A6E6-01A-11D-A30X-08	104638038	202496776	40702597	15	16260											
ILKAP	80895	broad.mit.edu	37	chr2	239090711	239090711	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagtcccttggttacctgacGtttcctccagccttctgtat	5	15	7	14	1	1	1	0	1	1	0	4	1	4	1	5	1	2	3	5	1	2	5			TCGA-KK-A6E6-01A-11D-A30X-08	TCGA-KK-A6E6-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a006949-56b7-4774-9768-6f384207ff48	605429ab-6e57-4c37-a6f9-85ef92e057f5	g.chr2:239090711G>A	ENST00000254654.3	-	9	1006	c.831C>T	c.(829-831)aaC>aaT	p.N277N		NM_030768.2	NP_110395.1	Q9H0C8	ILKAP_HUMAN	integrin-linked kinase-associated serine/threonine phosphatase	277	PP2C-like.				protein dephosphorylation (GO:0006470)|regulation of nuclear cell cycle DNA replication (GO:0033262)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)			endometrium(1)|kidney(3)|large_intestine(5)|lung(4)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_lung(227;0.152)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;5.49e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.93e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.82e-08)|BRCA - Breast invasive adenocarcinoma(100;0.00012)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.0163)		GTTACCTGACGTTTCCTCCAG	0.493																																						ENST00000254654.3																			0				endometrium(1)|kidney(3)|large_intestine(5)|lung(4)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19						c.(829-831)aaC>aaT		integrin-linked kinase-associated serine/threonine phosphatase							334	295	308					2																	239090711		2203	4300	6503	SO:0001819	synonymous_variant	80895					cytoplasm|protein serine/threonine phosphatase complex	metal ion binding|protein binding	g.chr2:239090711G>A	AY024365	CCDS2526.1	2q37.3	2012-04-17	2010-10-25		ENSG00000132323	ENSG00000132323	3.1.3.16	"Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"	15566	protein-coding gene	gene with protein product			"integrin-linked kinase-associated serine/threonine phosphatase 2C"				Standard	NM_030768		Approved	DKFZP434J2031, FLJ10181	uc002vxv.3	Q9H0C8	OTTHUMG00000133334	ENST00000254654.3:c.831C>T	2.37:g.239090711G>A							p.N277N	NM_030768.2	NP_110395.1	Q9H0C8	ILKAP_HUMAN		Epithelial(121;5.49e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.93e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.82e-08)|BRCA - Breast invasive adenocarcinoma(100;0.00012)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.0163)	9	1006	-		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_lung(227;0.152)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Hepatocellular(293;0.244)	277			PP2C-like.		B3KM39	Silent	SNP	ENST00000254654.3	37	c.831C>T	CCDS2526.1																																																																																				0.493	ILKAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257163.2	NM_030768		10	169	0	0	0	1	0	10	169					A	239090711	G	A	239090711	2	1	317	1	0	0	0	0	0	0	0	1	7714	1136	40	1		1	ILKAP	2	239090711	Silent	SNP	G	TCGA-KK-A6E6-01A-11D-A30X-08	36593935	239090711	4108662	16	16261											
SCN10A	6336	broad.mit.edu	37	chr3	38793972	38793972	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acacactgccatgactagccCggcgttttccagaggcgagg	9	7	12	13	3	0	2	0	1	0	1	1	3	1	2	3	3	2	1	3	3	1	3	rs372716583	byFrequency	TCGA-KK-A6E6-01A-11D-A30X-08	TCGA-KK-A6E6-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a006949-56b7-4774-9768-6f384207ff48	605429ab-6e57-4c37-a6f9-85ef92e057f5	g.chr3:38793972C>T	ENST00000449082.2	-	11	1492	c.1493G>A	c.(1492-1494)cGg>cAg	p.R498Q		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	498					AV node cell to bundle of His cell communication (GO:0086067)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of cardiac muscle contraction (GO:0055117)|regulation of heart rate (GO:0002027)|regulation of ion transmembrane transport (GO:0034765)|sensory perception (GO:0007600)|sensory perception of pain (GO:0019233)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	C-fiber (GO:0044299)|extracellular vesicular exosome (GO:0070062)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cinchocaine(DB00527)|Cocaine(DB00907)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Lacosamide(DB06218)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Orphenadrine(DB01173)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)|Valproic Acid(DB00313)	ATGACTAGCCCGGCGTTTTCC	0.547													C|||	2	0.000399361	0	0	5008	,	,		18634	0		0	False		,,,				2504	0.002					ENST00000449082.2																			0				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150						c.(1492-1494)cGg>cAg		sodium channel, voltage-gated, type X, alpha subunit	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	C	GLN/ARG	0,4406		0,0,2203	29	31	30		1493	4.8	1	3		30	1,8599	1.2+/-3.3	0,1,4299	no	missense	SCN10A	NM_006514.2	43	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	498/1957	38793972	1,13005	2203	4300	6503	SO:0001583	missense	6336				sensory perception	voltage-gated sodium channel complex		g.chr3:38793972C>T	AF117907	CCDS33736.1	3p22.2	2012-02-26	2007-01-23		ENSG00000185313	ENSG00000185313		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10582	protein-coding gene	gene with protein product		604427	"sodium channel, voltage-gated, type X, alpha polypeptide"			9839820, 10198179, 16382098	Standard	NM_006514		Approved	Nav1.8, hPN3, SNS, PN3	uc003ciq.3	Q9Y5Y9	OTTHUMG00000048245	ENST00000449082.2:c.1493G>A	3.37:g.38793972C>T	ENSP00000390600:p.Arg498Gln						p.R498Q	NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	11	1492	-			498					A6NDQ1	Missense_Mutation	SNP	ENST00000449082.2	37	c.1493G>A	CCDS33736.1	.	.	.	.	.	.	.	.	.	.	C	29.3	4.995697	0.93167	0.0	1.16E-4	ENSG00000185313	ENST00000449082	D	0.96522	-4.04	4.8	4.8	0.61643	.	1.287940	0.05801	N	0.612182	D	0.96343	0.8807	L	0.56769	1.78	0.24495	N	0.994285	D	0.61697	0.99	P	0.45474	0.482	D	0.90582	0.4530	10	0.59425	D	0.04	.	18.386	0.90466	0.0:1.0:0.0:0.0	.	498	Q9Y5Y9	SCNAA_HUMAN	Q	498	ENSP00000390600:R498Q	ENSP00000390600:R498Q	R	-	2	0	SCN10A	38768976	0.556000	0.26538	0.989000	0.46669	0.911000	0.54048	3.280000	0.51677	2.649000	0.89929	0.455000	0.32223	CGG		0.547	SCN10A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109745.3	NM_006514		7	25	0	0	0	1	0	7	25					T	38793972	C	T	38793972	3	4	317	1	0	0	0	0	1	0	0	0	13912	652	23	2	4445	2	SCN10A	3	38793972	Missense_Mutation	SNP	C	TCGA-KK-A6E6-01A-11D-A30X-08		38793972	159228458	17	16262											
ZNF518B	85460	broad.mit.edu	37	chr4	10447770	10447770	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgtgaacacttttgcacttTgcacatgtagcaatggtcat	10	15	8	8	0	1	1	1	1	0	0	1	1	1	1	0	1	4	4	0	1	3	5			TCGA-KK-A6E6-01A-11D-A30X-08	TCGA-KK-A6E6-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a006949-56b7-4774-9768-6f384207ff48	605429ab-6e57-4c37-a6f9-85ef92e057f5	g.chr4:10447770T>A	ENST00000326756.3	-	3	621	c.183A>T	c.(181-183)gcA>gcT	p.A61A		NM_053042.2	NP_444270.2	Q9C0D4	Z518B_HUMAN	zinc finger protein 518B	61					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	42						TTTTGCACTTTGCACATGTAG	0.488																																						ENST00000326756.3																			0				breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	42						c.(181-183)gcA>gcT		zinc finger protein 518B							209	186	194					4																	10447770		2203	4300	6503	SO:0001819	synonymous_variant	85460				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr4:10447770T>A	AB051516	CCDS33960.1	4p16.1	2007-12-07				ENSG00000178163		"Zinc fingers, C2H2-type"	29365	protein-coding gene	gene with protein product						11214970	Standard	XM_005248193		Approved	KIAA1729	uc003gmn.3	Q9C0D4		ENST00000326756.3:c.183A>T	4.37:g.10447770T>A							p.A61A	NM_053042.2	NP_444270.2	Q9C0D4	Z518B_HUMAN			3	621	-			61					Q96LN8	Silent	SNP	ENST00000326756.3	37	c.183A>T	CCDS33960.1																																																																																				0.488	ZNF518B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359040.1	NM_053042		16	131	0	0	0	1	0	16	131					A	10447770	T	A	10447770	2	1	317	1	0	0	0	0	0	0	0	1	17960	1799	63	5		5	ZNF518B	4	10447770	Silent	SNP	T	TCGA-KK-A6E6-01A-11D-A30X-08		10447770	180706506	18	16263											
TBC1D19	55296	broad.mit.edu	37	chr4	26622238	26622238	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctctttttgctcctaggttTcctttacctagtcatcctgc	4	18	5	14	0	2	0	1	0	1	0	5	0	5	0	5	1	3	2	5	1	3	7			TCGA-KK-A6E6-01A-11D-A30X-08	TCGA-KK-A6E6-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a006949-56b7-4774-9768-6f384207ff48	605429ab-6e57-4c37-a6f9-85ef92e057f5	g.chr4:26622238T>C	ENST00000264866.4	+	4	500	c.222T>C	c.(220-222)ttT>ttC	p.F74F	TBC1D19_ENST00000511789.1_Intron|TBC1D19_ENST00000515568.1_3'UTR	NM_018317.2	NP_060787.2	Q8N5T2	TBC19_HUMAN	TBC1 domain family, member 19	74							Rab GTPase activator activity (GO:0005097)			breast(4)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	17		Breast(46;0.0503)				CTCCTAGGTTTCCTTTACCTA	0.368																																						ENST00000264866.4																			0				breast(4)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	17						c.(220-222)ttT>ttC		TBC1 domain family, member 19							122	114	117					4																	26622238		2203	4300	6503	SO:0001819	synonymous_variant	55296					intracellular	Rab GTPase activator activity	g.chr4:26622238T>C	AK001944	CCDS3439.1, CCDS75115.1	4p15.2	2008-02-05			ENSG00000109680	ENSG00000109680			25624	protein-coding gene	gene with protein product							Standard	XM_006713967		Approved	FLJ11082	uc003gsf.4	Q8N5T2	OTTHUMG00000097797	ENST00000264866.4:c.222T>C	4.37:g.26622238T>C						TBC1D19_ENST00000515568.1_3'UTR|TBC1D19_ENST00000511789.1_Intron	p.F74F	NM_018317.2	NP_060787.2	Q8N5T2	TBC19_HUMAN			4	500	+		Breast(46;0.0503)	74					B9A6M0|Q9NUX1	Silent	SNP	ENST00000264866.4	37	c.222T>C	CCDS3439.1																																																																																				0.368	TBC1D19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215052.2	NM_018317		15	51	0	0	0	1	0	15	51					C	26622238	T	C	26622238	2	2	317	1	0	0	0	0	0	0	0	1	15604	1780	62	4		4	TBC1D19	4	26622238	Silent	SNP	T	TCGA-KK-A6E6-01A-11D-A30X-08	16174468	26622238	164532038	19	16264											
NAIP	4671	broad.mit.edu	37	chr5	70307189	70307189	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacaggaaaaacactgtaccGtgtcctgtttacctatatat	13	12	6	10	1	0	0	0	0	0	0	1	1	1	1	3	1	3	2	3	1	7	6	rs201023314	byFrequency	TCGA-KK-A6E6-01A-11D-A30X-08	TCGA-KK-A6E6-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a006949-56b7-4774-9768-6f384207ff48	605429ab-6e57-4c37-a6f9-85ef92e057f5	g.chr5:70307189G>A	ENST00000517649.1	-	5	871	c.581C>T	c.(580-582)aCg>aTg	p.T194M	NAIP_ENST00000194097.4_Missense_Mutation_p.T194M|NAIP_ENST00000523981.1_Intron|NAIP_ENST00000508426.2_Missense_Mutation_p.T194M|NAIP_ENST00000503719.2_Intron	NM_004536.2	NP_004527.2	Q13075	BIRC1_HUMAN	NLR family, apoptosis inhibitory protein	194					inflammatory response (GO:0006954)|innate immune response (GO:0045087)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of neuron apoptotic process (GO:0043524)|nervous system development (GO:0007399)	basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|metal ion binding (GO:0046872)			central_nervous_system(1)	1		Lung NSC(167;4.15e-05)|Prostate(74;0.00996)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;3.04e-60)|Epithelial(20;7.09e-58)|all cancers(19;1.13e-53)|Lung(70;0.0174)		ACACTGTACCGTGTCCTGTTT	0.423													G|||	2	0.000399361	0	0.0029	5008	,	,		22514	0		0	False		,,,				2504	0					ENST00000517649.1																			0				central_nervous_system(1)	1						c.(580-582)aCg>aTg		NLR family, apoptosis inhibitory protein		G	MET/THR,	0,4404		0,0,2202	126	110	115		581,	1.1	0	5		115	2,8590		1,0,4295	yes	missense,intron	NAIP	NM_004536.2,NM_022892.1	81,	1,0,6497	AA,AG,GG		0.0233,0.0,0.0154	probably-damaging,	194/1404,	70307189	2,12994	2202	4296	6498	SO:0001583	missense	4671				anti-apoptosis|apoptosis|nervous system development	basolateral plasma membrane|cytoplasm	caspase inhibitor activity|metal ion binding|nucleoside-triphosphatase activity|nucleotide binding	g.chr5:70307189G>A	U19251	CCDS4009.1, CCDS43327.1	5q13.2	2010-06-16	2006-12-08	2006-12-08	ENSG00000249437	ENSG00000249437		"Baculoviral IAP repeat containing", "Nucleotide-binding domain and leucine rich repeat containing"	7634	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and BIR domain containing 1", "NLR family, BIR domain containing 1"	600355	"baculoviral IAP repeat-containing 1"	BIRC1		7813013	Standard	NM_022892		Approved	NLRB1	uc003jyj.1	Q13075	OTTHUMG00000163318	ENST00000517649.1:c.581C>T	5.37:g.70307189G>A	ENSP00000428657:p.Thr194Met					NAIP_ENST00000523981.1_Intron|NAIP_ENST00000503719.2_Intron|NAIP_ENST00000194097.4_Missense_Mutation_p.T194M|NAIP_ENST00000508426.2_Missense_Mutation_p.T194M	p.T194M	NM_004536.2	NP_004527.2	Q13075	BIRC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;3.04e-60)|Epithelial(20;7.09e-58)|all cancers(19;1.13e-53)|Lung(70;0.0174)	5	871	-		Lung NSC(167;4.15e-05)|Prostate(74;0.00996)|Ovarian(174;0.0448)|Breast(144;0.198)	194					B9EG72|E9PHD1|O75857|Q13730|Q59GI6|Q8TDZ4|Q99796	Missense_Mutation	SNP	ENST00000517649.1	37	c.581C>T	CCDS4009.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	g	12.82	2.052315	0.36181	0.0	2.33E-4	ENSG00000249437	ENST00000517649;ENST00000194097;ENST00000508426	T;T;T	0.72725	-0.68;-0.68;-0.68	2.99	1.09	0.20402	Baculoviral inhibition of apoptosis protein repeat (5);	.	.	.	.	T	0.76350	0.3975	L	0.41961	1.31	0.26662	N	0.971889	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.65726	-0.6098	9	0.49607	T	0.09	.	10.4466	0.44497	0.0:0.0:0.648:0.352	.	194;194	E7EQW0;Q13075	.;BIRC1_HUMAN	M	194	ENSP00000428657:T194M;ENSP00000443944:T194M;ENSP00000429545:T194M	ENSP00000443944:T194M	T	-	2	0	NAIP	70342945	0.012000	0.17670	0.005000	0.12908	0.027000	0.11550	-0.092000	0.11129	0.274000	0.22072	0.404000	0.27445	ACG		0.423	NAIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372649.6	NM_004536		10	24	0	0	0	1	0	10	24					A	70307189	G	A	70307189	3	1	317	1	0	0	0	0	1	0	0	0	10147	1145	40	1	3682	1	NAIP	5	70307189	Missense_Mutation	SNP	G	TCGA-KK-A6E6-01A-11D-A30X-08		70307189	110608071	20	16265											
XPO5	57510	broad.mit.edu	37	chr6	43519114	43519114	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	agacattagtaaggacgcagGacaggatgaggggatccttg	13	7	15	6	1	0	2	0	1	0	1	1	6	1	6	1	5	0	2	1	5	2	3			TCGA-KK-A6E6-01A-11D-A30X-08	TCGA-KK-A6E6-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a006949-56b7-4774-9768-6f384207ff48	605429ab-6e57-4c37-a6f9-85ef92e057f5	g.chr6:43519114G>A	ENST00000265351.7	-	15	1859	c.1649C>T	c.(1648-1650)tCc>tTc	p.S550F	XPO5_ENST00000424378.2_5'UTR	NM_020750.2	NP_065801.1	Q9HAV4	XPO5_HUMAN	exportin 5	550	Necessary for interaction with ILF3.				gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|protein export from nucleus (GO:0006611)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|protein transporter activity (GO:0008565)|RNA binding (GO:0003723)|tRNA binding (GO:0000049)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(4)|lung(10)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	34	all_cancers(18;2.08e-05)|Lung NSC(15;0.000907)|all_lung(25;0.00243)		all cancers(41;0.000321)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|OV - Ovarian serous cystadenocarcinoma(102;0.0524)			AAGGACGCAGGACAGGATGAG	0.438																																						ENST00000265351.7																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(4)|lung(10)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	34						c.(1648-1650)tCc>tTc		exportin 5							134	134	134					6																	43519114		1918	4135	6053	SO:0001583	missense	57510				gene silencing by RNA	cytosol|nucleoplasm	protein binding|tRNA binding	g.chr6:43519114G>A	AB033117	CCDS47430.1	6p21.1	2011-04-13			ENSG00000124571	ENSG00000124571		"Exportins"	17675	protein-coding gene	gene with protein product		607845				11777942, 12426392	Standard	NM_020750		Approved	KIAA1291	uc003ovp.3	Q9HAV4	OTTHUMG00000014742	ENST00000265351.7:c.1649C>T	6.37:g.43519114G>A	ENSP00000265351:p.Ser550Phe					XPO5_ENST00000424378.2_5'UTR	p.S550F	NM_020750.2	NP_065801.1	Q9HAV4	XPO5_HUMAN	all cancers(41;0.000321)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|OV - Ovarian serous cystadenocarcinoma(102;0.0524)		15	1859	-	all_cancers(18;2.08e-05)|Lung NSC(15;0.000907)|all_lung(25;0.00243)		550			Necessary for interaction with ILF3.		Q5JTE6|Q96G48|Q96HN3|Q9BWM6|Q9BZV5|Q9H9M4|Q9NT89|Q9NW39|Q9ULC9	Missense_Mutation	SNP	ENST00000265351.7	37	c.1649C>T	CCDS47430.1	.	.	.	.	.	.	.	.	.	.	G	31	5.077886	0.94000	.	.	ENSG00000124571	ENST00000265351;ENST00000436943;ENST00000372252;ENST00000372258;ENST00000439465	D	0.89485	-2.52	5.55	5.55	0.83447	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.94221	0.8145	M	0.80982	2.52	0.80722	D	1	D	0.76494	0.999	D	0.68192	0.956	D	0.94197	0.7446	10	0.87932	D	0	-9.6087	19.8639	0.96797	0.0:0.0:1.0:0.0	.	550	Q9HAV4	XPO5_HUMAN	F	550;255;90;90;178	ENSP00000265351:S550F	ENSP00000265351:S550F	S	-	2	0	XPO5	43627092	1.000000	0.71417	1.000000	0.80357	0.918000	0.54935	9.341000	0.97041	2.772000	0.95346	0.650000	0.86243	TCC		0.438	XPO5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040657.2	NM_020750		24	56	0	0	0	1	0	24	56					A	43519114	G	A	43519114	3	1	317	1	0	0	0	0	1	0	0	0	17444	1174	41	3	2037	3	XPO5	6	43519114	Missense_Mutation	SNP	G	TCGA-KK-A6E6-01A-11D-A30X-08		43519114	127595953	21	16266											
TFAP2B	7021	broad.mit.edu	37	chr6	50791238	50791238	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cccgtcgtcggacttccagcCgccctacttcccacccccct	4	8	6	23	4	0	0	0	0	0	0	4	1	2	1	8	1	2	0	8	1	1	3			TCGA-KK-A6E6-01A-11D-A30X-08	TCGA-KK-A6E6-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a006949-56b7-4774-9768-6f384207ff48	605429ab-6e57-4c37-a6f9-85ef92e057f5	g.chr6:50791238C>T	ENST00000393655.3	+	2	369	c.200C>T	c.(199-201)cCg>cTg	p.P67L	TFAP2B_ENST00000489228.1_3'UTR|TFAP2B_ENST00000263046.4_Missense_Mutation_p.P76L	NM_003221.3	NP_003212.2	Q92481	AP2B_HUMAN	transcription factor AP-2 beta (activating enhancer binding protein 2 beta)	67	Gln/Pro-rich (transactivation domain).				aorta morphogenesis (GO:0035909)|calcium ion homeostasis (GO:0055074)|cellular ammonia homeostasis (GO:0097275)|cellular creatinine homeostasis (GO:0097276)|cellular urea homeostasis (GO:0097277)|collecting duct development (GO:0072044)|distal tubule development (GO:0072017)|ductus arteriosus closure (GO:0097070)|fat cell differentiation (GO:0045444)|forelimb morphogenesis (GO:0035136)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|hindlimb morphogenesis (GO:0035137)|kidney development (GO:0001822)|magnesium ion homeostasis (GO:0010960)|metanephric nephron development (GO:0072210)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|phosphate ion homeostasis (GO:0055062)|positive regulation of cell proliferation (GO:0008284)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of urine volume (GO:0035810)|potassium ion homeostasis (GO:0055075)|regulation of BMP signaling pathway (GO:0030510)|regulation of cell differentiation (GO:0045595)|regulation of insulin secretion (GO:0050796)|regulation of transcription, DNA-templated (GO:0006355)|renal water homeostasis (GO:0003091)|response to drug (GO:0042493)|response to lithium ion (GO:0010226)|retina layer formation (GO:0010842)|skin development (GO:0043588)|sodium ion homeostasis (GO:0055078)|sympathetic nervous system development (GO:0048485)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|DNA binding (GO:0003677)|enhancer sequence-specific DNA binding (GO:0001158)|protein dimerization activity (GO:0046983)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity (GO:0000983)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)	40	Lung NSC(77;0.156)					GACTTCCAGCCGCCCTACTTC	0.692																																					Pancreas(116;1373 2332 5475 10752)	ENST00000263046.4																			0				NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)	40						c.(226-228)cCg>cTg		transcription factor AP-2 beta (activating enhancer binding protein 2 beta)							43	49	47					6																	50791238		2203	4300	6503	SO:0001583	missense	7021				nervous system development|positive regulation of transcription from RNA polymerase II promoter		protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chr6:50791238C>T	X95694	CCDS4934.2	6p12	2008-02-05	2001-11-28		ENSG00000008196	ENSG00000008196			11743	protein-coding gene	gene with protein product		601601	"transcription factor AP-2 beta (activating enhancer-binding protein 2 beta)"			7555706, 8661133	Standard	NM_003221		Approved	AP2-B	uc003pag.3	Q92481	OTTHUMG00000014836	ENST00000393655.3:c.200C>T	6.37:g.50791238C>T	ENSP00000377265:p.Pro67Leu					TFAP2B_ENST00000489228.1_3'UTR|TFAP2B_ENST00000393655.3_Missense_Mutation_p.P67L	p.P76L			Q92481	AP2B_HUMAN			3	393	+	Lung NSC(77;0.156)		67			Gln/Pro-rich (transactivation domain).		Q5JYX6|Q9NQ63|Q9NU99|Q9UJI7|Q9Y214|Q9Y3K3	Missense_Mutation	SNP	ENST00000393655.3	37	c.227C>T	CCDS4934.2	.	.	.	.	.	.	.	.	.	.	C	26.6	4.751139	0.89753	.	.	ENSG00000008196	ENST00000393655;ENST00000344788;ENST00000263046	D;D;D	0.90676	-2.71;-2.71;-2.71	5.27	4.4	0.53042	.	0.000000	0.85682	D	0.000000	D	0.86623	0.5977	M	0.85462	2.755	0.80722	D	1	P	0.40638	0.725	B	0.31686	0.134	D	0.88418	0.3026	10	0.87932	D	0	-6.6477	15.2771	0.73750	0.1414:0.8586:0.0:0.0	.	67	Q92481	AP2B_HUMAN	L	67;65;76	ENSP00000377265:P67L;ENSP00000342252:P65L;ENSP00000263046:P76L	ENSP00000263046:P76L	P	+	2	0	TFAP2B	50899197	1.000000	0.71417	0.997000	0.53966	0.997000	0.91878	5.987000	0.70571	1.212000	0.43366	0.563000	0.77884	CCG		0.692	TFAP2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040886.3	NM_003221		8	27	0	0	0	1	0	8	27					T	50791238	C	T	50791238	3	4	317	1	0	0	0	0	1	0	0	0	15785	652	23	2	206	2	TFAP2B	6	50791238	Missense_Mutation	SNP	C	TCGA-KK-A6E6-01A-11D-A30X-08	7272124	50791238	120323829	22	16267											
SH3BGRL2	83699	broad.mit.edu	37	chr6	80383442	80383442	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcaatggatgtacaaaaacGtccccccggaaaagaaaccc	16	4	9	12	2	0	1	0	0	0	1	1	3	1	3	4	3	3	2	4	3	7	1	rs371878206		TCGA-KK-A6E6-01A-11D-A30X-08	TCGA-KK-A6E6-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a006949-56b7-4774-9768-6f384207ff48	605429ab-6e57-4c37-a6f9-85ef92e057f5	g.chr6:80383442G>A	ENST00000369838.4	+	2	336	c.157G>A	c.(157-159)Gtc>Atc	p.V53I		NM_031469.2	NP_113657.1	Q9UJC5	SH3L2_HUMAN	SH3 domain binding glutamate-rich protein like 2	53						extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)				large_intestine(2)|lung(3)	5		all_cancers(76;0.00188)|Acute lymphoblastic leukemia(125;1.24e-05)|all_hematologic(105;0.00223)|all_epithelial(107;0.174)		BRCA - Breast invasive adenocarcinoma(397;0.0278)		GTACAAAAACGTCCCCCCGGA	0.473													G|||	1	0.000199681	8e-04	0	5008	,	,		17917	0		0	False		,,,				2504	0					ENST00000369838.4																			0				large_intestine(2)|lung(3)	5						c.(157-159)Gtc>Atc		SH3 domain binding glutamic acid-rich protein like 2		G	ILE/VAL	0,4406		0,0,2203	136	140	139		157	1.2	0.1	6		139	2,8598	2.2+/-6.3	0,2,4298	no	missense	SH3BGRL2	NM_031469.2	29	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	benign	53/108	80383442	2,13004	2203	4300	6503	SO:0001583	missense	83699					nucleus	SH3 domain binding	g.chr6:80383442G>A	AJ297972	CCDS4991.1	6q14.1	2014-02-19	2014-02-19		ENSG00000198478	ENSG00000198478			15567	protein-coding gene	gene with protein product		615678	"SH3 domain binding glutamic acid-rich protein like 2"			12095696	Standard	NM_031469		Approved		uc003piz.1	Q9UJC5	OTTHUMG00000015081	ENST00000369838.4:c.157G>A	6.37:g.80383442G>A	ENSP00000358853:p.Val53Ile						p.V53I	NM_031469.2	NP_113657.1	Q9UJC5	SH3L2_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.0278)	2	336	+		all_cancers(76;0.00188)|Acute lymphoblastic leukemia(125;1.24e-05)|all_hematologic(105;0.00223)|all_epithelial(107;0.174)	53					A8MQU2|Q2VPC2|Q5VV96|Q6NSK8|Q6P9E8|Q7Z734|Q8IWD3|Q9BPY5	Missense_Mutation	SNP	ENST00000369838.4	37	c.157G>A	CCDS4991.1	.	.	.	.	.	.	.	.	.	.	G	2.644	-0.283586	0.05642	0.0	2.33E-4	ENSG00000198478	ENST00000369838	T	0.76968	-1.06	5.75	1.18	0.20946	Thioredoxin-like fold (2);	0.163302	0.56097	N	0.000036	T	0.24160	0.0585	N	0.02685	-0.53	0.24184	N	0.995577	B	0.02656	0.0	B	0.01281	0.0	T	0.40308	-0.9570	10	0.09084	T	0.74	-5.8075	9.0299	0.36252	0.7767:0.0:0.2233:0.0	.	53	Q9UJC5	SH3L2_HUMAN	I	53	ENSP00000358853:V53I	ENSP00000358853:V53I	V	+	1	0	SH3BGRL2	80440161	1.000000	0.71417	0.126000	0.21872	0.009000	0.06853	2.374000	0.44274	-0.020000	0.14032	0.650000	0.86243	GTC		0.473	SH3BGRL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041309.1			25	85	0	0	0	1	0	25	85					A	80383442	G	A	80383442	3	1	317	1	0	0	0	0	1	0	0	0	14242	1145	40	1	163	1	SH3BGRL2	6	80383442	Missense_Mutation	SNP	G	TCGA-KK-A6E6-01A-11D-A30X-08	29592204	80383442	90731625	23	16268											
SYNE1	23345	broad.mit.edu	37	chr6	152539540	152539540	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cataatcaagaactccagccTttttttccacaaaagaaatt	16	12	3	10	0	1	2	1	0	0	2	3	2	3	2	3	0	2	0	3	0	6	5	rs35128811		TCGA-KK-A6E6-01A-11D-A30X-08	TCGA-KK-A6E6-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a006949-56b7-4774-9768-6f384207ff48	605429ab-6e57-4c37-a6f9-85ef92e057f5	g.chr6:152539540T>C	ENST00000367255.5	-	121	22646		c.e121-2		SYNE1_ENST00000341594.5_Splice_Site|SYNE1_ENST00000448038.1_Splice_Site|SYNE1_ENST00000356820.4_Splice_Site|SYNE1_ENST00000265368.4_Splice_Site|SYNE1_ENST00000423061.1_Splice_Site	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1						cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		AACTCCAGCCTTTTTTTCCAC	0.343										HNSCC(10;0.0054)																												ENST00000367255.5																			0				NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524						c.e121-2		spectrin repeat containing, nuclear envelope 1							125	136	132					6																	152539540		2203	4300	6503	SO:0001630	splice_region_variant	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152539540T>C	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"myocyte nuclear envelope protein 1", "nuclear envelope spectrin repeat-1"	608441	"chromosome 6 open reading frame 98"	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.22045-2A>G	6.37:g.152539540T>C		HNSCC(10;0.0054)				SYNE1_ENST00000448038.1_Splice_Site|SYNE1_ENST00000423061.1_Splice_Site|SYNE1_ENST00000341594.5_Splice_Site|SYNE1_ENST00000265368.4_Splice_Site|SYNE1_ENST00000356820.4_Splice_Site		NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	121	22646	-		Ovarian(120;0.0955)						E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Splice_Site	SNP	ENST00000367255.5	37		CCDS5236.2	.	.	.	.	.	.	.	.	.	.	T	13.29	2.192011	0.38707	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000356820;ENST00000367251	.	.	.	5.68	5.68	0.88126	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.9247	0.79606	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	SYNE1	152581233	1.000000	0.71417	0.823000	0.32752	0.548000	0.35241	6.065000	0.71176	2.160000	0.67779	0.528000	0.53228	.		0.343	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961	Intron	4	216	0	0	0	1	0	4	216					C	152539540	T	C	152539540	5	2	317	1	0	0	0	0	0	0	1	0	15442	1623	56	4	4527	4	SYNE1	6	152539540	Splice_Site	SNP	T	TCGA-KK-A6E6-01A-11D-A30X-08	72156098	152539540	18575527	24	16269											
HECW1	23072	broad.mit.edu	37	chr7	43546798	43546798	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gagactttgaggccaagctcCgcaatttctacagaaaactg	13	9	9	10	1	1	3	0	1	1	2	2	4	2	3	2	1	3	2	2	1	5	3			TCGA-KK-A6E6-01A-11D-A30X-08	TCGA-KK-A6E6-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a006949-56b7-4774-9768-6f384207ff48	605429ab-6e57-4c37-a6f9-85ef92e057f5	g.chr7:43546798C>T	ENST00000395891.2	+	22	4299	c.3694C>T	c.(3694-3696)Cgc>Tgc	p.R1232C	AC011738.4_ENST00000436105.1_RNA|HECW1_ENST00000453890.1_Missense_Mutation_p.R1198C	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1	1232					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						GGCCAAGCTCCGCAATTTCTA	0.493																																						ENST00000395891.1																			0				NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						c.(3694-3696)Cgc>Tgc		HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1							99	104	103					7																	43546798		1842	4090	5932	SO:0001583	missense	23072				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity	g.chr7:43546798C>T	AB048365	CCDS5469.2, CCDS69286.1	7p13	2004-12-13			ENSG00000002746	ENSG00000002746			22195	protein-coding gene	gene with protein product		610384				12690205, 14684739	Standard	XM_005249665		Approved	KIAA0322, NEDL1	uc003tid.1	Q76N89	OTTHUMG00000128917	ENST00000395891.2:c.3694C>T	7.37:g.43546798C>T	ENSP00000379228:p.Arg1232Cys					HECW1_ENST00000453890.1_Missense_Mutation_p.R1198C	p.R1232C	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN			22	4299	+			1232					A7E2X0|A8MYS3|B4DH42|O15036|Q9HCC7	Missense_Mutation	SNP	ENST00000395891.2	37	c.3694C>T	CCDS5469.2	.	.	.	.	.	.	.	.	.	.	C	19.56	3.850284	0.71719	.	.	ENSG00000002746	ENST00000395891;ENST00000453890;ENST00000265522	D;D	0.85773	-2.03;-2.03	5.9	4.95	0.65309	HECT (1);	0.047711	0.85682	D	0.000000	D	0.90899	0.7140	M	0.64170	1.965	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.995	D	0.91368	0.5117	10	0.87932	D	0	.	15.6378	0.76970	0.2209:0.7791:0.0:0.0	.	1198;1232	B4DH42;Q76N89	.;HECW1_HUMAN	C	1232;1198;1232	ENSP00000379228:R1232C;ENSP00000407774:R1198C	ENSP00000265522:R1232C	R	+	1	0	HECW1	43513323	0.995000	0.38212	1.000000	0.80357	0.998000	0.95712	1.042000	0.30303	2.802000	0.96397	0.542000	0.68232	CGC		0.493	HECW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250893.2	NM_015052		11	56	0	0	0	1	0	11	56					T	43546798	C	T	43546798	3	4	317	1	0	0	0	0	1	0	0	0	7042	652	23	2	3772	2	HECW1	7	43546798	Missense_Mutation	SNP	C	TCGA-KK-A6E6-01A-11D-A30X-08		43546798	115591865	25	16270											
PCLO	27445	broad.mit.edu	37	chr7	82764221	82764221	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagtttggccagcggtaggtCgtgggccagggggtgttggt	4	10	20	7	2	0	0	0	0	0	0	1	0	0	0	2	7	1	3	2	7	1	3			TCGA-KK-A6E6-01A-11D-A30X-08	TCGA-KK-A6E6-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a006949-56b7-4774-9768-6f384207ff48	605429ab-6e57-4c37-a6f9-85ef92e057f5	g.chr7:82764221C>A	ENST00000333891.9	-	3	2982	c.2645G>T	c.(2644-2646)cGa>cTa	p.R882L	PCLO_ENST00000423517.2_Missense_Mutation_p.R882L	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein									p.R882L(2)|p.R828L(1)		breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						AGCGGTAGGTCGTGGGCCAGG	0.517																																						ENST00000423517.2																			3	Substitution - Missense(3)	p.R882L(2)|p.R828L(1)	lung(3)	breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						c.(2644-2646)cGa>cTa		piccolo presynaptic cytomatrix protein							204	204	204					7																	82764221		1991	4165	6156	SO:0001583	missense	27445				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	g.chr7:82764221C>A	AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"aczonin"	604918	"piccolo (presynaptic cytomatrix protein)"			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.2645G>T	7.37:g.82764221C>A	ENSP00000334319:p.Arg882Leu					PCLO_ENST00000333891.8_Missense_Mutation_p.R882L	p.R882L	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN			3	2982	-			828			Pro-rich.			Missense_Mutation	SNP	ENST00000333891.9	37	c.2645G>T	CCDS47630.1	.	.	.	.	.	.	.	.	.	.	C	12.79	2.043689	0.36085	.	.	ENSG00000186472	ENST00000431819;ENST00000333891;ENST00000423517	T;T	0.16597	2.33;2.34	5.93	4.95	0.65309	.	.	.	.	.	T	0.16811	0.0404	M	0.63428	1.95	0.80722	D	1	P;P	0.38767	0.646;0.646	B;B	0.35470	0.203;0.203	T	0.01988	-1.1234	9	0.87932	D	0	.	6.6861	0.23146	0.0:0.7265:0.0:0.2735	.	882;882	Q9Y6V0-5;Q9Y6V0-6	.;.	L	828;882;882	ENSP00000334319:R882L;ENSP00000388393:R882L	ENSP00000334319:R882L	R	-	2	0	PCLO	82602157	0.987000	0.35691	0.991000	0.47740	0.954000	0.61252	1.598000	0.36740	2.815000	0.96918	0.561000	0.74099	CGA		0.517	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510		6	264	1	0	1.26484e-09	1	1.305e-09	6	264					A	82764221	C	A	82764221	3	1	317	1	0	0	0	0	1	0	0	0	11583	884	31	5	12892	5	PCLO	7	82764221	Missense_Mutation	SNP	C	TCGA-KK-A6E6-01A-11D-A30X-08	39217423	82764221	76374442	26	16271											
TMEM209	84928	broad.mit.edu	37	chr7	129818271	129818271	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tttcaaacaagtattcctgaTttggagtaaggtctagatac	13	14	8	6	0	2	2	1	1	1	1	3	3	3	3	1	2	2	2	1	2	6	7			TCGA-KK-A6E6-01A-11D-A30X-08	TCGA-KK-A6E6-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a006949-56b7-4774-9768-6f384207ff48	605429ab-6e57-4c37-a6f9-85ef92e057f5	g.chr7:129818271T>C	ENST00000397622.2	-	10	1339	c.1217A>G	c.(1216-1218)aAt>aGt	p.N406S	RP11-775D22.3_ENST00000483283.1_RNA|TMEM209_ENST00000336804.8_Intron|TMEM209_ENST00000473456.1_Intron|TMEM209_ENST00000462753.1_Missense_Mutation_p.N405S	NM_032842.3	NP_116231.2	Q96SK2	TM209_HUMAN	transmembrane protein 209	406						integral component of membrane (GO:0016021)				NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(2)|skin(1)	12	Melanoma(18;0.0435)					GTATTCCTGATTTGGAGTAAG	0.353																																						ENST00000397622.2																			0				NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(2)|skin(1)	12						c.(1216-1218)aAt>aGt		transmembrane protein 209							59	54	56					7																	129818271		1814	4077	5891	SO:0001583	missense	84928					integral to membrane		g.chr7:129818271T>C		CCDS47712.1, CCDS75661.1	7q32.2	2008-02-26			ENSG00000146842	ENSG00000146842			21898	protein-coding gene	gene with protein product						12958361	Standard	NM_032842		Approved	FLJ14803, NET31	uc003vpn.2	Q96SK2	OTTHUMG00000157653	ENST00000397622.2:c.1217A>G	7.37:g.129818271T>C	ENSP00000380747:p.Asn406Ser					RP11-775D22.3_ENST00000483283.1_RNA|TMEM209_ENST00000336804.8_Intron|TMEM209_ENST00000462753.1_Missense_Mutation_p.N405S|TMEM209_ENST00000473456.1_Intron	p.N406S	NM_032842.3	NP_116231.2	Q96SK2	TM209_HUMAN			10	1339	-	Melanoma(18;0.0435)		406					A4D1L1|Q49A50|Q6PF00|Q8NCH3|Q96SL6	Missense_Mutation	SNP	ENST00000397622.2	37	c.1217A>G	CCDS47712.1	.	.	.	.	.	.	.	.	.	.	T	26.2	4.718431	0.89205	.	.	ENSG00000146842	ENST00000397622;ENST00000462753	T;T	0.39592	1.07;1.07	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	T	0.64114	0.2569	M	0.74647	2.275	0.80722	D	1	D	0.71674	0.998	D	0.69654	0.965	T	0.67189	-0.5733	10	0.59425	D	0.04	-24.8038	15.2954	0.73902	0.0:0.0:0.0:1.0	.	406	Q96SK2	TM209_HUMAN	S	406;405	ENSP00000380747:N406S;ENSP00000419697:N405S	ENSP00000380747:N406S	N	-	2	0	TMEM209	129605507	1.000000	0.71417	0.996000	0.52242	0.943000	0.58893	7.381000	0.79718	2.198000	0.70561	0.477000	0.44152	AAT		0.353	TMEM209-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000349339.1	NM_032842		5	20	0	0	0	1	0	5	20					C	129818271	T	C	129818271	3	2	317	1	0	0	0	0	1	0	0	0	16131	1493	52	4	492	4	TMEM209	7	129818271	Missense_Mutation	SNP	T	TCGA-KK-A6E6-01A-11D-A30X-08	47054050	129818271	29320392	27	16272											
PXDNL	137902	broad.mit.edu	37	chr8	52321583	52321583	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggacggccgctggcacacgcGgggctggagcgcgcgaagag	7	2	20	12	7	0	1	0	0	0	1	0	4	0	3	1	6	1	3	1	6	1	0			TCGA-KK-A6E6-01A-11D-A30X-08	TCGA-KK-A6E6-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a006949-56b7-4774-9768-6f384207ff48	605429ab-6e57-4c37-a6f9-85ef92e057f5	g.chr8:52321583G>A	ENST00000356297.4	-	17	2701	c.2601C>T	c.(2599-2601)ccC>ccT	p.P867P	PXDNL_ENST00000543296.1_Silent_p.P867P	NM_144651.4	NP_653252	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	867					hydrogen peroxide catabolic process (GO:0042744)|oxidation-reduction process (GO:0055114)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	endonuclease activity (GO:0004519)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				TGGCACACGCGGGGCTGGAGC	0.647																																						ENST00000356297.4																			0				NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48						c.(2599-2601)ccC>ccT		peroxidasin homolog (Drosophila)-like							24	28	27					8																	52321583		2012	4156	6168	SO:0001819	synonymous_variant	137902				hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity	g.chr8:52321583G>A		CCDS47855.1	8q11.21-q11.22	2013-02-18	2007-01-12		ENSG00000147485	ENSG00000147485		"Immunoglobulin superfamily / I-set domain containing"	26359	protein-coding gene	gene with protein product	"polysomal ribonuclease 1 homolog (Xenopus)"	615904	"peroxidasin homolog-like (Drosophila)"			22543864	Standard	NM_144651		Approved	FLJ25471, PMR1	uc003xqu.4	A1KZ92	OTTHUMG00000164244	ENST00000356297.4:c.2601C>T	8.37:g.52321583G>A						PXDNL_ENST00000543296.1_Silent_p.P867P	p.P867P	NM_144651.4	NP_653252.3	A1KZ92	PXDNL_HUMAN			17	2701	-		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)	867					B5ME43|B6CGZ3|H0YBM9|Q6ZMR2|Q96LH9	Silent	SNP	ENST00000356297.4	37	c.2601C>T	CCDS47855.1																																																																																				0.647	PXDNL-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377905.1	NM_144651		12	22	0	0	0	1	0	12	22					A	52321583	G	A	52321583	2	1	317	1	0	0	0	0	0	0	0	1	12848	1103	39	2		2	PXDNL	8	52321583	Silent	SNP	G	TCGA-KK-A6E6-01A-11D-A30X-08		52321583	94042439	28	16273											
ZNF707	286075	broad.mit.edu	37	chr8	144776071	144776071	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gttgtgggcggcggccgggcCgcagagagcgccggaagcag	6	3	21	11	6	0	1	0	0	0	1	0	3	0	2	3	5	2	3	3	5	1	1	rs370307757		TCGA-KK-A6E6-01A-11D-A30X-08	TCGA-KK-A6E6-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a006949-56b7-4774-9768-6f384207ff48	605429ab-6e57-4c37-a6f9-85ef92e057f5	g.chr8:144776071C>T	ENST00000532205.1	+	8	1386	c.487C>T	c.(487-489)Cgc>Tgc	p.R163C	ZNF707_ENST00000358656.4_Missense_Mutation_p.R163C|ZNF707_ENST00000454097.1_Missense_Mutation_p.R163C|ZNF707_ENST00000532158.1_Missense_Mutation_p.R163C|ZNF707_ENST00000418203.2_Missense_Mutation_p.R163C|RP11-429J17.2_ENST00000531565.1_RNA			Q96C28	ZN707_HUMAN	zinc finger protein 707	163					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)	1	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;5.6e-41)|Epithelial(56;1.02e-39)|all cancers(56;9.65e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			GCGGCCGGGCCGCAGAGAGCG	0.677																																						ENST00000532205.1																			0				breast(1)	1						c.(487-489)Cgc>Tgc		zinc finger protein 707		C	CYS/ARG,CYS/ARG,CYS/ARG	1,4067		0,1,2033	16	20	19		487,487,487	1	0	8		19	0,8352		0,0,4176	no	missense,missense,missense	ZNF707	NM_001100598.1,NM_001100599.1,NM_173831.3	180,180,180	0,1,6209	TT,TC,CC		0.0,0.0246,0.0081	benign,benign,benign	163/372,163/372,163/372	144776071	1,12419	2034	4176	6210	SO:0001583	missense	286075				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr8:144776071C>T	AK001126	CCDS47932.1	8q24.3	2013-01-08				ENSG00000181135		"Zinc fingers, C2H2-type", "-"	27815	protein-coding gene	gene with protein product						12477932	Standard	NM_173831		Approved		uc010mfi.3	Q96C28		ENST00000532205.1:c.487C>T	8.37:g.144776071C>T	ENSP00000436212:p.Arg163Cys					ZNF707_ENST00000532158.1_Missense_Mutation_p.R163C|ZNF707_ENST00000418203.2_Missense_Mutation_p.R163C|ZNF707_ENST00000358656.4_Missense_Mutation_p.R163C|ZNF707_ENST00000454097.1_Missense_Mutation_p.R163C	p.R163C			Q96C28	ZN707_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;5.6e-41)|Epithelial(56;1.02e-39)|all cancers(56;9.65e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)		8	1386	+	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		163					A8K317|B3KNY1|D3DWK7	Missense_Mutation	SNP	ENST00000532205.1	37	c.487C>T	CCDS47932.1	.	.	.	.	.	.	.	.	.	.	C	9.536	1.112094	0.20795	2.46E-4	0.0	ENSG00000181135	ENST00000454097;ENST00000358656;ENST00000532158;ENST00000526315;ENST00000532205;ENST00000418203	T;T;T;T;T;T	0.24151	3.45;3.45;3.45;1.87;3.45;3.45	1.93	0.999	0.19862	.	.	.	.	.	T	0.14356	0.0347	N	0.25332	0.735	0.09310	N	0.999993	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.30446	-0.9978	8	.	.	.	.	4.7258	0.12939	0.0:0.8013:0.0:0.1987	.	88;163	B4DV46;Q96C28	.;ZN707_HUMAN	C	163;163;163;127;163;163	ENSP00000409029:R163C;ENSP00000351482:R163C;ENSP00000436250:R163C;ENSP00000435906:R127C;ENSP00000436212:R163C;ENSP00000413215:R163C	.	R	+	1	0	ZNF707	144848059	0.227000	0.23707	0.004000	0.12327	0.025000	0.11179	0.746000	0.26275	0.335000	0.23614	0.514000	0.50259	CGC		0.677	ZNF707-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382197.1	NM_173831		4	19	0	0	0	1	0	4	19					T	144776071	C	T	144776071	3	4	317	1	0	0	0	0	1	0	0	0	18108	652	23	2	501	2	ZNF707	8	144776071	Missense_Mutation	SNP	C	TCGA-KK-A6E6-01A-11D-A30X-08	92454488	144776071	1587951	29	16274											
PRPF4	9128	broad.mit.edu	37	chr9	116049072	116049072	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgtcaacctggcctcttgtgCggctgatggctctgtgaagc	5	12	13	11	1	3	2	1	2	2	0	3	2	3	2	2	3	3	2	2	3	2	1	rs575911571		TCGA-KK-A6E6-01A-11D-A30X-08	TCGA-KK-A6E6-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a006949-56b7-4774-9768-6f384207ff48	605429ab-6e57-4c37-a6f9-85ef92e057f5	g.chr9:116049072C>T	ENST00000374198.4	+	9	1001	c.899C>T	c.(898-900)gCg>gTg	p.A300V	PRPF4_ENST00000374199.4_Missense_Mutation_p.A299V	NM_001244926.1|NM_004697.4	NP_001231855.1|NP_004688.2	O43172	PRP4_HUMAN	pre-mRNA processing factor 4	300					gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	Cajal body (GO:0015030)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U4/U6 snRNP (GO:0071001)				NS(1)|breast(2)|endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|prostate(2)	23						GCCTCTTGTGCGGCTGATGGC	0.468													C|||	1	0.000199681	0	0	5008	,	,		18454	0		0.001	False		,,,				2504	0					ENST00000374199.4																			0				NS(1)|breast(2)|endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|prostate(2)	23						c.(895-897)gCg>gTg		pre-mRNA processing factor 4							353	352	353					9																	116049072		2203	4300	6503	SO:0001583	missense	9128					Cajal body|nuclear speck|spliceosomal complex|U4/U6 snRNP	protein binding	g.chr9:116049072C>T	AF001687	CCDS6791.1, CCDS59142.1	9q31-q33	2013-10-03	2013-10-03		ENSG00000136875	ENSG00000136875		"WD repeat domain containing"	17349	protein-coding gene	gene with protein product	"PRP4/STK/WD splicing factor", "U4/U6 small nuclear ribonucleoprotein Prp4"	607795	"PRP4 pre-mRNA processing factor 4 homolog (yeast)"			9257651, 9404889	Standard	NM_004697		Approved	Prp4p, HPRP4, HPRP4P, PRP4, SNRNP60	uc004bgx.3	O43172	OTTHUMG00000020517	ENST00000374198.4:c.899C>T	9.37:g.116049072C>T	ENSP00000363313:p.Ala300Val					PRPF4_ENST00000374198.4_Missense_Mutation_p.A300V	p.A299V			O43172	PRP4_HUMAN			9	1297	+			300					O43445|O43864|Q5T1M8|Q96DG2|Q96IK4	Missense_Mutation	SNP	ENST00000374198.4	37	c.896C>T	CCDS6791.1	.	.	.	.	.	.	.	.	.	.	C	32	5.163644	0.94727	.	.	ENSG00000136875	ENST00000374199;ENST00000374198	T;T	0.61040	0.14;0.14	5.82	5.82	0.92795	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.155793	0.56097	D	0.000025	T	0.72244	0.3436	L	0.56340	1.77	0.80722	D	1	D;D	0.76494	0.999;0.992	D;P	0.65140	0.932;0.849	T	0.73040	-0.4108	10	0.72032	D	0.01	.	19.0872	0.93209	0.0:1.0:0.0:0.0	.	315;300	Q59EL4;O43172	.;PRP4_HUMAN	V	299;300	ENSP00000363315:A299V;ENSP00000363313:A300V	ENSP00000363313:A300V	A	+	2	0	PRPF4	115088893	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	7.378000	0.79679	2.752000	0.94435	0.655000	0.94253	GCG		0.468	PRPF4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053708.2	NM_004697		5	500	0	0	0	1	0	5	500					T	116049072	C	T	116049072	3	4	317	1	0	0	0	0	1	0	0	0	12570	768	27	1	933	1	PRPF4	9	116049072	Missense_Mutation	SNP	C	TCGA-KK-A6E6-01A-11D-A30X-08		116049072	25164359	30	16275											
FAM73B	84895	broad.mit.edu	37	chr9	131831378	131831378	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttggccactgcttgctggtcGgtcctgaaagccaagaggag	8	9	14	10	1	0	2	0	1	0	1	2	3	1	3	3	4	3	2	3	4	2	2	rs201932397		TCGA-KK-A6E6-01A-11D-A30X-08	TCGA-KK-A6E6-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a006949-56b7-4774-9768-6f384207ff48	605429ab-6e57-4c37-a6f9-85ef92e057f5	g.chr9:131831378G>A	ENST00000358369.4	+	14	1654	c.1428G>A	c.(1426-1428)tcG>tcA	p.S476S	FAM73B_ENST00000406926.2_3'UTR|FAM73B_ENST00000277475.5_3'UTR	NM_032809.2	NP_116198.2	Q7L4E1	FA73B_HUMAN	family with sequence similarity 73, member B	476					bone development (GO:0060348)	integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(1)	13						CTTGCTGGTCGGTCCTGAAAG	0.647											OREG0003928	type=REGULATORY REGION|Gene=FAM73B|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	G|||	1	0.000199681	8e-04	0	5008	,	,		17580	0		0	False		,,,				2504	0					ENST00000358369.4																			0				breast(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(1)	13						c.(1426-1428)tcG>tcA		family with sequence similarity 73, member B							120	126	124					9																	131831378		2203	4300	6503	SO:0001819	synonymous_variant	84895					integral to membrane		g.chr9:131831378G>A	AK074127	CCDS6917.1	9q34.13	2008-02-05	2005-08-11	2005-08-11	ENSG00000148343	ENSG00000148343			23621	protein-coding gene	gene with protein product			"chromosome 9 open reading frame 54"	C9orf54			Standard	NM_032809		Approved	FLJ14596, FLJ00199	uc004bxa.3	Q7L4E1	OTTHUMG00000020770	ENST00000358369.4:c.1428G>A	9.37:g.131831378G>A			OREG0003928	type=REGULATORY REGION|Gene=FAM73B|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	1590	FAM73B_ENST00000406926.2_3'UTR|FAM73B_ENST00000277475.5_3'UTR	p.S476S	NM_032809.2	NP_116198.2	Q7L4E1	FA73B_HUMAN			14	1654	+			476					Q8NBM3|Q8TEJ6|Q969E6	Silent	SNP	ENST00000358369.4	37	c.1428G>A	CCDS6917.1																																																																																				0.647	FAM73B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054542.7	NM_032809		5	177	0	0	0	1	0	5	177					A	131831378	G	A	131831378	2	1	317	1	0	0	0	0	0	0	0	1	5618	1103	39	2		2	FAM73B	9	131831378	Silent	SNP	G	TCGA-KK-A6E6-01A-11D-A30X-08	15782306	131831378	9382053	31	16276											
AKR1C4	1109	broad.mit.edu	37	chr10	5248268	5248268	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agtgtaaggatgcaggattgGccaagtccatcggggtgtca	10	9	15	7	1	1	0	1	0	0	0	3	2	2	2	2	5	1	2	2	5	2	2			TCGA-KK-A6E6-01A-11D-A30X-08	TCGA-KK-A6E6-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a006949-56b7-4774-9768-6f384207ff48	605429ab-6e57-4c37-a6f9-85ef92e057f5	g.chr10:5248268G>A	ENST00000380448.1	+	7	731	c.478G>A	c.(478-480)Gcc>Acc	p.A160T	AKR1C4_ENST00000263126.1_Missense_Mutation_p.A160T			P17516	AK1C4_HUMAN	aldo-keto reductase family 1, member C4	160					androgen metabolic process (GO:0008209)|bile acid and bile salt transport (GO:0015721)|bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cellular response to jasmonic acid stimulus (GO:0071395)|daunorubicin metabolic process (GO:0044597)|doxorubicin metabolic process (GO:0044598)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	aldo-keto reductase (NADP) activity (GO:0004033)|androsterone dehydrogenase activity (GO:0047023)|bile acid transmembrane transporter activity (GO:0015125)|chlordecone reductase activity (GO:0047743)|electron carrier activity (GO:0009055)|oxidoreductase activity, acting on NAD(P)H, quinone or similar compound as acceptor (GO:0016655)|retinal dehydrogenase activity (GO:0001758)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|skin(2)|stomach(2)|urinary_tract(1)	18						TGCAGGATTGGCCAAGTCCAT	0.493																																						ENST00000380448.1																			0				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|skin(2)|stomach(2)|urinary_tract(1)	18						c.(478-480)Gcc>Acc		aldo-keto reductase family 1, member C4	NADH(DB00157)						160	140	147					10																	5248268		2203	4300	6503	SO:0001583	missense	1109				androgen metabolic process|bile acid biosynthetic process	cytosol	aldo-keto reductase (NADP) activity|androsterone dehydrogenase (B-specific) activity|bile acid transmembrane transporter activity|chlordecone reductase activity|electron carrier activity	g.chr10:5248268G>A	M33375	CCDS7064.1	10p15.1	2012-12-04	2012-12-04		ENSG00000198610	ENSG00000198610	1.1.1.225	"Aldo-keto reductases"	387	protein-coding gene	gene with protein product	"chlordecone reductase; 3-alpha hydroxysteroid dehydrogenase, type I; dihydrodiol dehydrogenase 4"	600451	"aldo-keto reductase family 1, member C4 (chlordecone reductase; 3-alpha hydroxysteroid dehydrogenase, type I; dihydrodiol dehydrogenase 4)"	CHDR		7789999	Standard	NM_001818		Approved	DD4, HAKRA, C11, 3-alpha-HSD, CDR, MGC22581	uc001ihw.2	P17516	OTTHUMG00000017591	ENST00000380448.1:c.478G>A	10.37:g.5248268G>A	ENSP00000369814:p.Ala160Thr					AKR1C4_ENST00000263126.1_Missense_Mutation_p.A160T	p.A160T			P17516	AK1C4_HUMAN			7	731	+			160					Q5T6A3|Q8WW84|Q9NS54	Missense_Mutation	SNP	ENST00000380448.1	37	c.478G>A	CCDS7064.1	.	.	.	.	.	.	.	.	.	.	G	5.716	0.316610	0.10845	.	.	ENSG00000198610	ENST00000380448;ENST00000263126	T;T	0.52754	0.65;0.65	3.16	1.2	0.21068	Aldo/keto reductase, conserved site (1);NADP-dependent oxidoreductase domain (3);	0.432537	0.20662	N	0.088006	T	0.23649	0.0572	N	0.11201	0.11	0.33351	D	0.571106	B	0.12013	0.005	B	0.18263	0.021	T	0.15896	-1.0421	10	0.25106	T	0.35	.	6.7199	0.23325	0.2549:0.0:0.7451:0.0	.	160	P17516	AK1C4_HUMAN	T	160	ENSP00000369814:A160T;ENSP00000263126:A160T	ENSP00000263126:A160T	A	+	1	0	AKR1C4	5238268	0.194000	0.23325	0.735000	0.30896	0.146000	0.21551	0.134000	0.15932	0.019000	0.15079	0.313000	0.20887	GCC		0.493	AKR1C4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046543.2	NM_001818		4	89	0	0	0	1	0	4	89					A	5248268	G	A	5248268	3	1	317	1	0	0	0	0	1	0	0	0	472	1203	42	3	496	3	AKR1C4	10	5248268	Missense_Mutation	SNP	G	TCGA-KK-A6E6-01A-11D-A30X-08		5248268	130286479	32	16277											
C10orf53	282966	broad.mit.edu	37	chr10	50901903	50901903	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aactcatggtgaatgaagaaGtcatcttccactgcaacatt	14	11	7	9	0	3	3	2	2	1	1	4	3	4	3	1	1	3	1	1	1	5	2			TCGA-KK-A6E6-01A-11D-A30X-08	TCGA-KK-A6E6-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a006949-56b7-4774-9768-6f384207ff48	605429ab-6e57-4c37-a6f9-85ef92e057f5	g.chr10:50901903G>A	ENST00000374111.3	+	2	193	c.181G>A	c.(181-183)Gtc>Atc	p.V61I	CHAT_ENST00000455728.2_3'UTR|C10orf53_ENST00000374112.3_Missense_Mutation_p.V61I|C10orf53_ENST00000535836.1_Missense_Mutation_p.V61I|C10orf53_ENST00000374113.3_Missense_Mutation_p.V61I	NM_001042427.1	NP_001035892.1	Q8N6V4	CJ053_HUMAN	chromosome 10 open reading frame 53	61										endometrium(1)|lung(6)	7		all_neural(218;0.107)				GAATGAAGAAGTCATCTTCCA	0.468																																						ENST00000374113.3																			0				endometrium(1)|lung(6)	7						c.(181-183)Gtc>Atc		chromosome 10 open reading frame 53							196	177	184					10																	50901903		2203	4300	6503	SO:0001583	missense	282966							g.chr10:50901903G>A	BC028127	CCDS31202.1, CCDS41521.1	10q11.23	2012-05-24			ENSG00000178645	ENSG00000178645			27421	protein-coding gene	gene with protein product						12477932	Standard	NM_182554		Approved	Em:AC069546.1	uc001jid.1	Q8N6V4	OTTHUMG00000018199	ENST00000374111.3:c.181G>A	10.37:g.50901903G>A	ENSP00000363225:p.Val61Ile					C10orf53_ENST00000374111.3_Missense_Mutation_p.V61I|C10orf53_ENST00000535836.1_Missense_Mutation_p.V61I|CHAT_ENST00000455728.2_3'UTR|C10orf53_ENST00000374112.3_Missense_Mutation_p.V61I	p.V61I			Q8N6V4	CJ053_HUMAN			2	228	+		all_neural(218;0.107)	61					A6NI81|A6NLE0|B9ZVK6	Missense_Mutation	SNP	ENST00000374111.3	37	c.181G>A	CCDS41521.1	.	.	.	.	.	.	.	.	.	.	G	3.976	-0.007339	0.07773	.	.	ENSG00000178645	ENST00000374113;ENST00000374111;ENST00000374112;ENST00000535836	.	.	.	5.6	0.0672	0.14365	.	1.924430	0.02906	N	0.136131	T	0.16257	0.0391	N	0.03177	-0.4	0.09310	N	1	B;B;B	0.20052	0.041;0.01;0.0	B;B;B	0.16722	0.016;0.013;0.003	T	0.17623	-1.0363	9	0.12766	T	0.61	-0.3818	5.8514	0.18696	0.5445:0.143:0.3125:0.0	.	61;61;61	B9ZVK6;Q8N6V4-2;Q8N6V4	.;.;CJ053_HUMAN	I	61	.	ENSP00000363225:V61I	V	+	1	0	C10orf53	50571909	0.000000	0.05858	0.001000	0.08648	0.182000	0.23217	-0.016000	0.12613	0.207000	0.20607	-0.140000	0.14226	GTC		0.468	C10orf53-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048005.1	NM_182554		20	48	0	0	0	1	0	20	48					A	50901903	G	A	50901903	3	1	317	1	0	0	0	0	1	0	0	0	1606	1029	36	3	187	3	C10orf53	10	50901903	Missense_Mutation	SNP	G	TCGA-KK-A6E6-01A-11D-A30X-08	45653635	50901903	84632844	33	16278											
KRTAP5-4	387267	broad.mit.edu	37	chr11	1643191	1643191	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacacagcagctggagccacAgcccccacagccggagccac	11	1	10	19	1	0	0	0	0	0	0	0	2	0	2	5	2	6	2	5	2	0	0			TCGA-KK-A6E6-01A-11D-A30X-08	TCGA-KK-A6E6-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a006949-56b7-4774-9768-6f384207ff48	605429ab-6e57-4c37-a6f9-85ef92e057f5	g.chr11:1643191A>G	ENST00000399682.1	-	1	177	c.133T>C	c.(133-135)Tgt>Cgt	p.C45R		NM_001012709.1	NP_001012727	Q6L8H1	KRA54_HUMAN	keratin associated protein 5-4	0						keratin filament (GO:0045095)				NS(1)|endometrium(9)|kidney(2)|lung(2)|pancreas(1)|prostate(3)|skin(2)	20		all_epithelial(84;0.00819)|Breast(177;0.00832)|Ovarian(85;0.0256)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		CTGGagccacagcccccacag	0.692																																						ENST00000399682.1																			0				NS(1)|endometrium(9)|kidney(2)|lung(2)|pancreas(1)|prostate(3)|skin(2)	20						c.(133-135)Tgt>Cgt		keratin associated protein 5-4							6	15	12					11																	1643191		644	1532	2176	SO:0001583	missense	387267					keratin filament		g.chr11:1643191A>G	AB126073		11p15.5	2012-04-19			ENSG00000241598	ENSG00000241598		"Keratin associated proteins"	23599	protein-coding gene	gene with protein product						15144888	Standard	NM_001012709		Approved	KRTAP5.4	uc009ycy.1	Q6L8H1	OTTHUMG00000057553	ENST00000399682.1:c.133T>C	11.37:g.1643191A>G	ENSP00000382590:p.Cys45Arg						p.C45R	NM_001012709.1	NP_001012727.1	Q6L8H1	KRA54_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)	1	177	-		all_epithelial(84;0.00819)|Breast(177;0.00832)|Ovarian(85;0.0256)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)	45						Missense_Mutation	SNP	ENST00000399682.1	37	c.133T>C		.	.	.	.	.	.	.	.	.	.	A	8.091	0.774445	0.16051	.	.	ENSG00000241598	ENST00000399682;ENST00000328953	T	0.01422	4.91	2.56	1.34	0.21922	.	.	.	.	.	T	0.05547	0.0146	M	0.92880	3.355	0.36705	D	0.880345	D	0.54964	0.969	P	0.50590	0.645	T	0.11203	-1.0597	9	0.87932	D	0	.	5.7924	0.18367	0.8478:0.0:0.1522:0.0	.	45	Q6L8H1	KRA54_HUMAN	R	45	ENSP00000382590:C45R	ENSP00000331603:C45R	C	-	1	0	KRTAP5-4	1599767	0.943000	0.32029	0.981000	0.43875	0.509000	0.34042	0.886000	0.28241	0.049000	0.15920	0.163000	0.16589	TGT		0.692	KRTAP5-4-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000127918.1	NM_001012709		4	105	0	0	0	1	0	4	105					G	1643191	A	G	1643191	3	3	317	1	0	0	0	0	1	0	0	0	8563	188	7	4	557	4	KRTAP5-4	11	1643191	Missense_Mutation	SNP	A	TCGA-KK-A6E6-01A-11D-A30X-08		1643191	133363325	34	16279											
SERPING1	710	broad.mit.edu	37	chr11	57367489	57367489	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaacccatcctggaggtttcCagcttgccgacaaccaactc	10	8	8	15	1	0	0	0	0	0	0	3	3	2	1	5	2	5	2	5	2	3	2			TCGA-KK-A6E6-01A-11D-A30X-08	TCGA-KK-A6E6-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a006949-56b7-4774-9768-6f384207ff48	605429ab-6e57-4c37-a6f9-85ef92e057f5	g.chr11:57367489C>A	ENST00000278407.4	+	3	416	c.189C>A	c.(187-189)tcC>tcA	p.S63S	SERPING1_ENST00000378323.4_Silent_p.S68S|SERPING1_ENST00000378324.2_Silent_p.S11S|SERPING1_ENST00000340687.6_Silent_p.S63S|SERPING1_ENST00000403558.1_Silent_p.S97S	NM_000062.2	NP_000053.2	P05155	IC1_HUMAN	serpin peptidase inhibitor, clade G (C1 inhibitor), member 1	63					blood circulation (GO:0008015)|blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|complement activation, classical pathway (GO:0006958)|fibrinolysis (GO:0042730)|innate immune response (GO:0045087)|negative regulation of complement activation, lectin pathway (GO:0001869)|negative regulation of endopeptidase activity (GO:0010951)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule lumen (GO:0031093)	serine-type endopeptidase inhibitor activity (GO:0004867)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(11)|pancreas(2)|prostate(1)|urinary_tract(1)	27						TGGAGGTTTCCAGCTTGCCGA	0.512																																						ENST00000403558.1																			0				central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(11)|pancreas(2)|prostate(1)|urinary_tract(1)	27						c.(289-291)tcC>tcA		serpin peptidase inhibitor, clade G (C1 inhibitor), member 1							252	236	241					11																	57367489		2201	4296	6497	SO:0001819	synonymous_variant	710				blood circulation|blood coagulation, intrinsic pathway|complement activation, classical pathway|innate immune response|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation	extracellular space|platelet alpha granule lumen	protein binding|serine-type endopeptidase inhibitor activity	g.chr11:57367489C>A	X54486	CCDS7962.1	11q12.1	2014-09-17	2008-07-31		ENSG00000149131	ENSG00000149131		"Serine (or cysteine) peptidase inhibitors"	1228	protein-coding gene	gene with protein product	"plasma protease C1 inhibitor", "angioedema, hereditary"	606860	"serine (or cysteine) proteinase inhibitor, clade G (C1 inhibitor), member 1, (angioedema, hereditary)"	C1NH		2026152, 24172014	Standard	NM_000062		Approved	C1IN, C1-INH, HAE1, HAE2	uc001nkp.1	P05155	OTTHUMG00000150304	ENST00000278407.4:c.189C>A	11.37:g.57367489C>A						SERPING1_ENST00000378323.4_Silent_p.S68S|SERPING1_ENST00000378324.2_Silent_p.S11S|SERPING1_ENST00000340687.6_Silent_p.S63S|SERPING1_ENST00000278407.4_Silent_p.S63S	p.S97S	NM_001032295.1	NP_001027466.1	P05155	IC1_HUMAN			2	657	+			63		Missing (in HAE; type 2).	7 X 4 AA tandem repeats of [QE]-P-T-[TQ].		A6NMU0|A8KAI9|B2R6L5|B4E1F0|B4E1H2|Q16304|Q547W3|Q59EI5|Q7Z455|Q96FE0|Q9UC49|Q9UCF9	Silent	SNP	ENST00000278407.4	37	c.291C>A	CCDS7962.1																																																																																				0.512	SERPING1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317465.1	NM_000062		7	36	1	0	0.00198382	1	0.00198382	7	36					A	57367489	C	A	57367489	2	1	317	1	0	0	0	0	0	0	0	1	14116	581	21	5		5	SERPING1	11	57367489	Silent	SNP	C	TCGA-KK-A6E6-01A-11D-A30X-08	55724298	57367489	77639027	35	16280											
WNT1	7471	broad.mit.edu	37	chr12	49374247	49374247	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atcttcgctatcacctccgcCggggtcacccattcggtggc	5	10	10	16	4	3	0	2	0	1	0	6	0	4	0	4	4	0	1	4	4	1	3			TCGA-KK-A6E6-01A-11D-A30X-08	TCGA-KK-A6E6-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a006949-56b7-4774-9768-6f384207ff48	605429ab-6e57-4c37-a6f9-85ef92e057f5	g.chr12:49374247C>T	ENST00000293549.3	+	3	435	c.399C>T	c.(397-399)gcC>gcT	p.A133A		NM_005430.3	NP_005421.1	P04628	WNT1_HUMAN	wingless-type MMTV integration site family, member 1	133					bone development (GO:0060348)|branching involved in ureteric bud morphogenesis (GO:0001658)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|cell fate commitment (GO:0045165)|cell-cell signaling (GO:0007267)|cellular response to peptide hormone stimulus (GO:0071375)|central nervous system morphogenesis (GO:0021551)|cerebellum formation (GO:0021588)|diencephalon development (GO:0021536)|embryonic axis specification (GO:0000578)|forebrain anterior/posterior pattern specification (GO:0021797)|hematopoietic stem cell proliferation (GO:0071425)|hepatocyte differentiation (GO:0070365)|inner ear morphogenesis (GO:0042472)|midbrain development (GO:0030901)|midbrain-hindbrain boundary maturation during brain development (GO:0022004)|myoblast fusion (GO:0007520)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of cell aging (GO:0090344)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000059)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron differentiation (GO:0030182)|neuron fate determination (GO:0048664)|organ regeneration (GO:0031100)|positive regulation of cell proliferation (GO:0008284)|positive regulation of dermatome development (GO:0061184)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of lamellipodium assembly (GO:0010592)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|response to wounding (GO:0009611)|signal transduction in response to DNA damage (GO:0042770)|Spemann organizer formation (GO:0060061)|spinal cord association neuron differentiation (GO:0021527)|T cell differentiation in thymus (GO:0033077)|ubiquitin-dependent SMAD protein catabolic process (GO:0030579)|Wnt signaling pathway (GO:0016055)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	cytokine activity (GO:0005125)|frizzled binding (GO:0005109)|receptor agonist activity (GO:0048018)|transcription regulatory region DNA binding (GO:0044212)			endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)	11				BRCA - Breast invasive adenocarcinoma(357;0.244)		TCACCTCCGCCGGGGTCACCC	0.682																																						ENST00000293549.3																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)	11						c.(397-399)gcC>gcT		wingless-type MMTV integration site family, member 1							37	35	36					12																	49374247		2203	4300	6503	SO:0001819	synonymous_variant	7471				brain segmentation|canonical Wnt receptor signaling pathway involved in negative regulation of apoptosis|central nervous system morphogenesis|cerebellum formation|dermatome development|diencephalon development|embryonic axis specification|forebrain anterior/posterior pattern formation|fourth ventricle development|hemopoietic stem cell proliferation|hepatocyte differentiation|inner ear morphogenesis|mesoderm morphogenesis|midbrain development|midbrain-hindbrain boundary maturation during brain development|negative regulation of cell-cell adhesion|negative regulation of cell-substrate adhesion|negative regulation of DNA damage checkpoint|negative regulation of fat cell differentiation|neuron fate determination|positive regulation of fibroblast proliferation|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of lamellipodium assembly|positive regulation of Notch signaling pathway|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to wounding|signal transduction in response to DNA damage|Spemann organizer formation|T cell differentiation in thymus|Wnt receptor signaling pathway, calcium modulating pathway	early endosome|extracellular space|late endosome|membrane raft|plasma membrane|proteinaceous extracellular matrix	cytokine activity|frizzled-2 binding|transcription regulatory region DNA binding	g.chr12:49374247C>T	X03072	CCDS8776.1	12q13	2013-02-28				ENSG00000125084		"Wingless-type MMTV integration sites", "Endogenous ligands"	12774	protein-coding gene	gene with protein product		164820		INT1		2998762, 3281802	Standard	NM_005430		Approved		uc001rsu.3	P04628	OTTHUMG00000170403	ENST00000293549.3:c.399C>T	12.37:g.49374247C>T							p.A133A	NM_005430.3	NP_005421.1	P04628	WNT1_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.244)	3	435	+			133					Q5U0N2	Silent	SNP	ENST00000293549.3	37	c.399C>T	CCDS8776.1																																																																																				0.682	WNT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408937.1			11	36	0	0	0	1	0	11	36					T	49374247	C	T	49374247	2	4	317	1	0	0	0	0	0	0	0	1	17378	639	23	2		2	WNT1	12	49374247	Silent	SNP	C	TCGA-KK-A6E6-01A-11D-A30X-08		49374247	84477648	36	16281											
DNAH10	196385	broad.mit.edu	37	chr12	124289442	124289442	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgacgtggaccacatggtcCggtggtatcttgccattgga	7	10	14	10	3	1	0	0	0	1	0	2	3	2	2	3	5	1	1	3	5	1	3			TCGA-KK-A6E6-01A-11D-A30X-08	TCGA-KK-A6E6-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a006949-56b7-4774-9768-6f384207ff48	605429ab-6e57-4c37-a6f9-85ef92e057f5	g.chr12:124289442C>T	ENST00000409039.3	+	17	2513	c.2488C>T	c.(2488-2490)Cgg>Tgg	p.R830W		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	830	Stem. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		CCACATGGTCCGGTGGTATCT	0.532																																						ENST00000409039.3																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52						c.(2488-2490)Cgg>Tgg		dynein, axonemal, heavy chain 10							120	116	118					12																	124289442		2203	4300	6503	SO:0001583	missense	196385				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr12:124289442C>T	AJ132089	CCDS9255.2	12q24	2008-02-05	2006-09-04		ENSG00000197653	ENSG00000197653		"Axonemal dyneins"	2941	protein-coding gene	gene with protein product		605884	"dynein, axonemal, heavy polypeptide 10"				Standard	NM_207437		Approved	FLJ43808	uc001uft.4	Q8IVF4	OTTHUMG00000154477	ENST00000409039.3:c.2488C>T	12.37:g.124289442C>T	ENSP00000386770:p.Arg830Trp						p.R830W	NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)	17	2513	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		830			Stem (By similarity).		C9JMF5|O95495|Q6ZUC9|Q6ZUP6|Q8N761	Missense_Mutation	SNP	ENST00000409039.3	37	c.2488C>T	CCDS9255.2	.	.	.	.	.	.	.	.	.	.	c	16.59	3.166596	0.57476	.	.	ENSG00000197653	ENST00000409039	T	0.23950	1.88	5.42	-3.16	0.05217	.	0.000000	0.50627	D	0.000112	T	0.49115	0.1538	M	0.77616	2.38	0.09310	N	0.999999	D;D;D	0.89917	1.0;0.999;0.997	D;D;P	0.75020	0.985;0.973;0.821	T	0.55988	-0.8053	10	0.62326	D	0.03	.	18.9919	0.92796	0.4602:0.5398:0.0:0.0	.	830;705;830	Q8IVF4-2;C4IXU6;Q8IVF4	.;.;DYH10_HUMAN	W	830	ENSP00000386770:R830W	ENSP00000386770:R830W	R	+	1	2	DNAH10	122855395	0.064000	0.20934	0.762000	0.31397	0.706000	0.40770	0.634000	0.24614	-0.877000	0.04012	-0.233000	0.12211	CGG		0.532	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335420.3			6	131	0	0	0	1	0	6	131					T	124289442	C	T	124289442	3	4	317	1	0	0	0	0	1	0	0	0	4598	643	23	2	2554	2	DNAH10	12	124289442	Missense_Mutation	SNP	C	TCGA-KK-A6E6-01A-11D-A30X-08	74915195	124289442	9562453	37	16282											
C14orf135	64430	broad.mit.edu	37	chr14	60591204	60591204	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtggatacttgttcaatactGctccaaaaggcctggcatga	11	11	10	9	0	1	1	1	1	0	0	2	2	2	2	2	3	3	3	2	3	5	4			TCGA-KK-A6E6-01A-11D-A30X-08	TCGA-KK-A6E6-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a006949-56b7-4774-9768-6f384207ff48	605429ab-6e57-4c37-a6f9-85ef92e057f5	g.chr14:60591204G>T	ENST00000406854.1	+	9	2869	c.2315G>T	c.(2314-2316)tGc>tTc	p.C772F	PCNXL4_ENST00000535349.1_5'UTR|PCNXL4_ENST00000404681.2_Missense_Mutation_p.C772F|PCNXL4_ENST00000317623.4_Missense_Mutation_p.C538F|PCNXL4_ENST00000406949.1_Missense_Mutation_p.C538F			Q63HM2	PCX4_HUMAN	pecanex-like 4 (Drosophila)	772						integral component of membrane (GO:0016021)											GTTCAATACTGCTCCAAAAGG	0.388																																						ENST00000406854.1																			0											c.(2314-2316)tGc>tTc		pecanex-like 4 (Drosophila)							98	103	102					14																	60591204		2202	4300	6502	SO:0001583	missense	64430							g.chr14:60591204G>T	AK022861		14q23.1	2012-07-18	2012-07-18	2012-07-18	ENSG00000126773	ENSG00000126773			20349	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 135"	C14orf135			Standard	NM_022495		Approved		uc001xer.4	Q63HM2	OTTHUMG00000150361	ENST00000406854.1:c.2315G>T	14.37:g.60591204G>T	ENSP00000384801:p.Cys772Phe					PCNXL4_ENST00000535349.1_5'UTR|PCNXL4_ENST00000404681.2_Missense_Mutation_p.C772F|PCNXL4_ENST00000317623.4_Missense_Mutation_p.C538F|PCNXL4_ENST00000406949.1_Missense_Mutation_p.C538F	p.C772F							9	2869	+								A8MXM2|Q9BQG8|Q9H9F2	Missense_Mutation	SNP	ENST00000406854.1	37	c.2315G>T		.	.	.	.	.	.	.	.	.	.	G	24.1	4.496890	0.85069	.	.	ENSG00000126773	ENST00000317623;ENST00000406854;ENST00000406949;ENST00000404681	T;T;T;T	0.25414	1.82;1.83;1.8;1.83	5.69	5.69	0.88448	.	0.127749	0.85682	D	0.000000	T	0.53061	0.1773	M	0.76574	2.34	0.80722	D	1	D;D	0.76494	0.998;0.999	D;D	0.68192	0.942;0.956	T	0.49934	-0.8886	10	0.48119	T	0.1	.	19.8067	0.96534	0.0:0.0:1.0:0.0	.	772;538	Q63HM2;B5MC47	CN135_HUMAN;.	F	538;772;538;772	ENSP00000317396:C538F;ENSP00000384801:C772F;ENSP00000385201:C538F;ENSP00000385713:C772F	ENSP00000317396:C538F	C	+	2	0	C14orf135	59660957	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	7.132000	0.77251	2.672000	0.90937	0.650000	0.86243	TGC		0.388	PCNXL4-005	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000317847.1	NM_022495		14	97	1	0	0.000219431	1	0.00022286	14	97					T	60591204	G	T	60591204	3	4	317	1	0	0	0	0	1	0	0	0	1745	1319	46	5	1639	5	C14orf135	14	60591204	Missense_Mutation	SNP	G	TCGA-KK-A6E6-01A-11D-A30X-08		60591204	46758336	38	16283											
C16orf89	146556	broad.mit.edu	37	chr16	5110422	5110422	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcttccaaaacccgggctggAgggtcagctggaactctggc	8	7	14	12	1	2	0	1	0	1	0	3	2	3	2	2	5	3	3	2	5	3	1			TCGA-KK-A6E6-01A-11D-A30X-08	TCGA-KK-A6E6-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a006949-56b7-4774-9768-6f384207ff48	605429ab-6e57-4c37-a6f9-85ef92e057f5	g.chr16:5110422A>G	ENST00000315997.5	-	3	575	c.374T>C	c.(373-375)cTc>cCc	p.L125P	C16orf89_ENST00000474471.3_Missense_Mutation_p.L125P|ALG1_ENST00000588623.1_Intron|C16orf89_ENST00000422873.1_Missense_Mutation_p.L163P|C16orf89_ENST00000350219.4_Missense_Mutation_p.L163P|C16orf89_ENST00000472572.3_Missense_Mutation_p.L125P	NM_152459.4	NP_689672.4	Q6UX73	CP089_HUMAN	chromosome 16 open reading frame 89	125						cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	12						CCCGGGCTGGAGGGTCAGCTG	0.627																																						ENST00000315997.5																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	12						c.(373-375)cTc>cCc		chromosome 16 open reading frame 89							37	42	41					16																	5110422		1971	4162	6133	SO:0001583	missense	146556					extracellular region		g.chr16:5110422A>G		CCDS42116.1, CCDS45404.1, CCDS42116.2, CCDS45404.2	16p13.3	2011-12-12			ENSG00000153446	ENSG00000153446			28687	protein-coding gene	gene with protein product						12975309, 20578903	Standard	NM_001098514		Approved	MGC45438	uc010bud.3	Q6UX73	OTTHUMG00000159314	ENST00000315997.5:c.374T>C	16.37:g.5110422A>G	ENSP00000324672:p.Leu125Pro					C16orf89_ENST00000422873.1_Missense_Mutation_p.L163P|C16orf89_ENST00000474471.3_Missense_Mutation_p.L125P|ALG1_ENST00000588623.1_Intron|C16orf89_ENST00000472572.3_Missense_Mutation_p.L125P|C16orf89_ENST00000350219.4_Missense_Mutation_p.L163P	p.L125P	NM_152459.4	NP_689672.4	Q6UX73	CP089_HUMAN			3	575	-			125					B4DUM5|Q8N2I3|Q8N4T1	Missense_Mutation	SNP	ENST00000315997.5	37	c.374T>C	CCDS42116.2	.	.	.	.	.	.	.	.	.	.	A	12.48	1.952025	0.34471	.	.	ENSG00000153446	ENST00000474471;ENST00000472572;ENST00000477550;ENST00000422873;ENST00000350219;ENST00000315997	T;T;T;T;T	0.38240	1.15;1.15;1.15;1.15;1.15	5.11	5.11	0.69529	.	0.407784	0.21759	N	0.069555	T	0.52273	0.1724	L	0.59436	1.845	0.24617	N	0.993694	D;D	0.71674	0.998;0.998	D;D	0.64877	0.921;0.93	T	0.47849	-0.9085	10	0.66056	D	0.02	-5.3957	11.3016	0.49309	1.0:0.0:0.0:0.0	.	125;163	Q6UX73;G3V0F0	CP089_HUMAN;.	P	125;125;125;163;163;125	ENSP00000417158:L125P;ENSP00000420566:L125P;ENSP00000390402:L163P;ENSP00000283478:L163P;ENSP00000324672:L125P	ENSP00000324672:L125P	L	-	2	0	C16orf89	5050423	0.177000	0.23109	0.274000	0.24659	0.120000	0.20174	5.013000	0.64023	1.924000	0.55735	0.460000	0.39030	CTC		0.627	C16orf89-001	KNOWN	upstream_ATG|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000354524.1	NM_152459		3	43	0	0	0	1	0	3	43					G	5110422	A	G	5110422	3	3	317	1	0	0	0	0	1	0	0	0	1842	304	11	4	993	4	C16orf89	16	5110422	Missense_Mutation	SNP	A	TCGA-KK-A6E6-01A-11D-A30X-08		5110422	85244331	39	16284											
A2BP1	54715	broad.mit.edu	37	chr16	7568246	7568246	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggtatccccgcggaatacaCggcccctcatccccaccccg	7	5	8	21	5	1	0	1	0	0	0	3	1	3	1	8	3	1	1	8	3	3	2	rs146499343		TCGA-KK-A6E6-01A-11D-A30X-08	TCGA-KK-A6E6-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a006949-56b7-4774-9768-6f384207ff48	605429ab-6e57-4c37-a6f9-85ef92e057f5	g.chr16:7568246C>T	ENST00000550418.1	+	5	1113	c.125C>T	c.(124-126)aCg>aTg	p.T42M	RBFOX1_ENST00000535565.2_Missense_Mutation_p.T78M|RBFOX1_ENST00000436368.2_Missense_Mutation_p.T62M|RBFOX1_ENST00000355637.4_Missense_Mutation_p.T62M|RBFOX1_ENST00000552089.1_Missense_Mutation_p.T78M|RBFOX1_ENST00000422070.4_Missense_Mutation_p.T85M|RBFOX1_ENST00000340209.4_Missense_Mutation_p.T47M|RBFOX1_ENST00000547338.1_Missense_Mutation_p.T42M|RBFOX1_ENST00000547372.1_Missense_Mutation_p.T85M|RBFOX1_ENST00000311745.5_Missense_Mutation_p.T62M|RBFOX1_ENST00000553186.1_Missense_Mutation_p.T42M	NM_018723.3	NP_061193.2	Q9NWB1	RFOX1_HUMAN	RNA binding protein, fox-1 homolog (C. elegans) 1	42					mRNA processing (GO:0006397)|neuromuscular process controlling balance (GO:0050885)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)|RNA transport (GO:0050658)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	nucleotide binding (GO:0000166)|protein C-terminus binding (GO:0008022)|RNA binding (GO:0003723)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|lung(17)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)	55						GCGGAATACACGGCCCCTCAT	0.637																																					Ovarian(157;934 2567 15163 39509)	ENST00000340209.4																			0				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|lung(17)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)	55						c.(139-141)aCg>aTg		RNA binding protein, fox-1 homolog (C. elegans) 1		C	MET/THR,MET/THR,MET/THR,MET/THR,MET/THR,MET/THR	0,4394		0,0,2197	121	118	119		125,125,125,185,185,185	4.8	1	16	dbSNP_134	119	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense,missense,missense	RBFOX1	NM_001142333.1,NM_001142334.1,NM_018723.3,NM_145891.2,NM_145892.2,NM_145893.2	81,81,81,81,81,81	0,1,6496	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	42/371,42/398,42/398,62/419,62/393,62/396	7568246	1,12993	2197	4300	6497	SO:0001583	missense	54715				mRNA processing|RNA splicing|RNA transport	nucleus|trans-Golgi network	nucleotide binding|protein C-terminus binding|RNA binding	g.chr16:7568246C>T	AF107203	CCDS10531.1, CCDS10532.1, CCDS45405.1, CCDS55983.1, CCDS55984.1	16p13.3	2013-02-12			ENSG00000078328	ENSG00000078328		"RNA binding motif (RRM) containing"	18222	protein-coding gene	gene with protein product	"ataxin 2-binding protein 1", "hexaribonucleotide binding protein 1"	605104				10814712, 16260614	Standard	NM_018723		Approved	A2BP1, FOX-1, HRNBP1	uc002cyy.2	Q9NWB1	OTTHUMG00000129551	ENST00000550418.1:c.125C>T	16.37:g.7568246C>T	ENSP00000450031:p.Thr42Met					RBFOX1_ENST00000436368.2_Missense_Mutation_p.T62M|RBFOX1_ENST00000552089.1_Missense_Mutation_p.T78M|RBFOX1_ENST00000311745.5_Missense_Mutation_p.T62M|RBFOX1_ENST00000355637.4_Missense_Mutation_p.T62M|RBFOX1_ENST00000422070.4_Missense_Mutation_p.T85M|RBFOX1_ENST00000547338.1_Missense_Mutation_p.T42M|RBFOX1_ENST00000553186.1_Missense_Mutation_p.T42M|RBFOX1_ENST00000535565.2_Missense_Mutation_p.T78M|RBFOX1_ENST00000550418.1_Missense_Mutation_p.T42M|RBFOX1_ENST00000547372.1_Missense_Mutation_p.T85M	p.T47M			Q9NWB1	RFOX1_HUMAN			2	437	+			42					Q7Z7I7|Q8TAE3|Q8TAF2|Q8WYB2|Q9NS20	Missense_Mutation	SNP	ENST00000550418.1	37	c.140C>T	CCDS55983.1	.	.	.	.	.	.	.	.	.	.	C	25.5	4.643869	0.87859	0.0	1.16E-4	ENSG00000078328	ENST00000547605;ENST00000550418;ENST00000553186;ENST00000547372;ENST00000422070;ENST00000535565;ENST00000552089;ENST00000551752;ENST00000547338;ENST00000436368;ENST00000311745;ENST00000355637;ENST00000352951;ENST00000340209	T;T;T;T;T;T;T;T;T;T;T	0.32753	1.9;1.44;1.74;1.7;1.71;1.85;1.44;1.57;1.77;1.75;1.46	4.85	4.85	0.62838	.	0.000000	0.85682	D	0.000000	T	0.46600	0.1401	L	0.36672	1.1	0.58432	D	0.999998	D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;0.992;1.0;0.978;0.962;0.999	D;D;D;D;P;D;P;P;D	0.87578	0.977;0.994;0.952;0.97;0.796;0.998;0.796;0.629;0.949	T	0.33343	-0.9872	10	0.34782	T	0.22	-7.3313	17.9952	0.89181	0.0:1.0:0.0:0.0	.	62;78;85;62;62;62;42;42;85	F8WAC5;F5H0M1;B7Z1U7;Q9NWB1-2;Q9NWB1-4;Q9NWB1-5;Q9NWB1-3;Q9NWB1;F8VZG9	.;.;.;.;.;.;.;RFOX1_HUMAN;.	M	42;42;42;85;85;78;78;42;42;62;62;62;62;47	ENSP00000450402:T42M;ENSP00000450031:T42M;ENSP00000447753:T42M;ENSP00000446842:T85M;ENSP00000391269:T85M;ENSP00000447281:T42M;ENSP00000447717:T42M;ENSP00000402745:T62M;ENSP00000309117:T62M;ENSP00000347855:T62M;ENSP00000344196:T47M	ENSP00000309117:T62M	T	+	2	0	RBFOX1	7508247	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	7.041000	0.76558	2.222000	0.72286	0.557000	0.71058	ACG		0.637	RBFOX1-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000409492.2	NM_145891		7	161	0	0	0	1	0	7	161					T	7568246	C	T	7568246	3	4	317	1	0	0	0	0	1	0	0	0	3	536	19	1	222	1	A2BP1	16	7568246	Missense_Mutation	SNP	C	TCGA-KK-A6E6-01A-11D-A30X-08	2457824	7568246	82786507	40	16285											
COG7	91949	broad.mit.edu	37	chr16	23417460	23417460	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gggttatctttctggaggtaAttatattcttgccatgggtt	7	18	11	5	0	3	0	0	0	3	0	3	1	3	1	1	4	1	3	1	4	4	8			TCGA-KK-A6E6-01A-11D-A30X-08	TCGA-KK-A6E6-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a006949-56b7-4774-9768-6f384207ff48	605429ab-6e57-4c37-a6f9-85ef92e057f5	g.chr16:23417460A>G	ENST00000307149.5	-	12	1784	c.1599T>C	c.(1597-1599)aaT>aaC	p.N533N		NM_153603.3	NP_705831.1	P83436	COG7_HUMAN	component of oligomeric golgi complex 7	533					intracellular protein transport (GO:0006886)|protein glycosylation (GO:0006486)|protein localization to Golgi apparatus (GO:0034067)|protein localization to organelle (GO:0033365)|protein stabilization (GO:0050821)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	Golgi apparatus (GO:0005794)|Golgi transport complex (GO:0017119)|membrane (GO:0016020)				breast(1)|central_nervous_system(1)|endometrium(7)|large_intestine(9)|liver(1)|lung(7)|urinary_tract(1)	27				GBM - Glioblastoma multiforme(48;0.0401)		TCTGGAGGTAATTATATTCTT	0.423																																						ENST00000307149.5																			0				breast(1)|central_nervous_system(1)|endometrium(7)|large_intestine(9)|liver(1)|lung(7)|urinary_tract(1)	27						c.(1597-1599)aaT>aaC		component of oligomeric golgi complex 7							120	125	123					16																	23417460		2197	4300	6497	SO:0001819	synonymous_variant	91949				intracellular protein transport|protein glycosylation|protein localization in Golgi apparatus|protein stabilization|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane|Golgi transport complex	protein binding	g.chr16:23417460A>G	AF070568	CCDS10610.1	16p12.2	2008-02-05			ENSG00000168434	ENSG00000168434		"Components of oligomeric golgi complex"	18622	protein-coding gene	gene with protein product		606978				11980916	Standard	NM_153603		Approved		uc002dlo.3	P83436	OTTHUMG00000094807	ENST00000307149.5:c.1599T>C	16.37:g.23417460A>G							p.N533N	NM_153603.3	NP_705831.1	P83436	COG7_HUMAN		GBM - Glioblastoma multiforme(48;0.0401)	12	1784	-			533					Q6UWU7	Silent	SNP	ENST00000307149.5	37	c.1599T>C	CCDS10610.1																																																																																				0.423	COG7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211625.1			30	113	0	0	0	1	0	30	113					G	23417460	A	G	23417460	2	3	317	1	0	0	0	0	0	0	0	1	3663	98	4	4		4	COG7	16	23417460	Silent	SNP	A	TCGA-KK-A6E6-01A-11D-A30X-08	15849214	23417460	66937293	41	16286											
ARMC5	79798	broad.mit.edu	37	chr16	31473498	31473498	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgacagcctgccaggactcGcagtgcctacagagcgtggt	8	7	13	13	2	0	2	0	1	0	1	1	3	0	3	3	2	5	1	3	2	1	1	rs181006627	byFrequency	TCGA-KK-A6E6-01A-11D-A30X-08	TCGA-KK-A6E6-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a006949-56b7-4774-9768-6f384207ff48	605429ab-6e57-4c37-a6f9-85ef92e057f5	g.chr16:31473498G>A	ENST00000563544.1	+	4	1176	c.630G>A	c.(628-630)tcG>tcA	p.S210S	ARMC5_ENST00000538189.1_Silent_p.S242S|RP11-452L6.5_ENST00000564629.1_RNA|ARMC5_ENST00000268314.4_Silent_p.S210S|ARMC5_ENST00000457010.2_Silent_p.S210S|ARMC5_ENST00000408912.3_Silent_p.S305S|ARMC5_ENST00000412665.2_Silent_p.S46S			Q96C12	ARMC5_HUMAN	armadillo repeat containing 5	210										central_nervous_system(1)|endometrium(4)|large_intestine(3)|liver(2)|lung(12)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						GCCAGGACTCGCAGTGCCTAC	0.647													g|||	2	0.000399361	0	0	5008	,	,		19278	0.001		0.001	False		,,,				2504	0					ENST00000457010.2																			0				central_nervous_system(1)|endometrium(4)|large_intestine(3)|liver(2)|lung(12)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						c.(628-630)tcG>tcA		armadillo repeat containing 5							73	80	77					16																	31473498		2170	4265	6435	SO:0001819	synonymous_variant	79798						binding	g.chr16:31473498G>A	AY217348	CCDS42155.1, CCDS45472.1, CCDS73874.1	16p11	2013-02-14			ENSG00000140691	ENSG00000140691		"Armadillo repeat containing"	25781	protein-coding gene	gene with protein product		615549					Standard	NM_024742		Approved	FLJ13063	uc002ecc.3	Q96C12	OTTHUMG00000176618	ENST00000563544.1:c.630G>A	16.37:g.31473498G>A						ARMC5_ENST00000412665.2_Silent_p.S46S|ARMC5_ENST00000408912.3_Silent_p.S305S|ARMC5_ENST00000538189.1_Silent_p.S242S|ARMC5_ENST00000563544.1_Silent_p.S210S|ARMC5_ENST00000268314.4_Silent_p.S210S	p.S210S	NM_024742.2	NP_079018.1	Q96C12	ARMC5_HUMAN			3	1331	+			210					Q86WM9|Q9H7P8|Q9H925	Silent	SNP	ENST00000563544.1	37	c.630G>A	CCDS45472.1																																																																																				0.647	ARMC5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432847.1	NM_024742		4	57	0	0	0	1	0	4	57					A	31473498	G	A	31473498	2	1	317	1	0	0	0	0	0	0	0	1	954	1074	38	1		1	ARMC5	16	31473498	Silent	SNP	G	TCGA-KK-A6E6-01A-11D-A30X-08	8056038	31473498	58881255	42	16287											
SALL1	6299	broad.mit.edu	37	chr16	51175110	51175110	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actgccgctgccaatatgttCatattgggagaagagccgct	10	10	11	10	2	1	2	1	0	0	2	1	3	1	2	3	1	3	3	3	1	4	4			TCGA-KK-A6E6-01A-11D-A30X-08	TCGA-KK-A6E6-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a006949-56b7-4774-9768-6f384207ff48	605429ab-6e57-4c37-a6f9-85ef92e057f5	g.chr16:51175110C>A	ENST00000251020.4	-	2	1056	c.1023G>T	c.(1021-1023)atG>atT	p.M341I	SALL1_ENST00000541611.1_Intron|SALL1_ENST00000566102.1_Intron|SALL1_ENST00000440970.1_Missense_Mutation_p.M244I|SALL1_ENST00000562674.1_5'Flank	NM_002968.2	NP_002959.2	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	341					adrenal gland development (GO:0030325)|branching involved in ureteric bud morphogenesis (GO:0001658)|embryonic digestive tract development (GO:0048566)|embryonic digit morphogenesis (GO:0042733)|forelimb morphogenesis (GO:0035136)|gonad development (GO:0008406)|heart development (GO:0007507)|hindlimb morphogenesis (GO:0035137)|histone deacetylation (GO:0016575)|inductive cell-cell signaling (GO:0031129)|kidney development (GO:0001822)|kidney epithelium development (GO:0072073)|limb development (GO:0060173)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|olfactory bulb interneuron differentiation (GO:0021889)|olfactory bulb mitral cell layer development (GO:0061034)|olfactory nerve development (GO:0021553)|outer ear morphogenesis (GO:0042473)|pituitary gland development (GO:0021983)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of neural precursor cell proliferation (GO:2000177)|transcription, DNA-templated (GO:0006351)|ureteric bud development (GO:0001657)|ureteric bud invasion (GO:0072092)|ventricular septum development (GO:0003281)	chromocenter (GO:0010369)|cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			CCAATATGTTCATATTGGGAG	0.537																																					GBM(103;1352 1446 1855 4775 8890)	ENST00000440970.1																			0				NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126						c.(730-732)atG>atT		spalt-like transcription factor 1							90	96	94					16																	51175110		2198	4300	6498	SO:0001583	missense	6299				adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr16:51175110C>A	X98833	CCDS10747.1, CCDS45483.1	16q12.1	2014-09-17	2013-10-17		ENSG00000103449	ENSG00000103449		"Zinc fingers, C2H2-type"	10524	protein-coding gene	gene with protein product		602218	"sal (Drosophila)-like 1", "sal-like 1 (Drosophila)"	TBS		9425907	Standard	NM_002968		Approved	Hsal1, ZNF794	uc021tie.1	Q9NSC2	OTTHUMG00000133176	ENST00000251020.4:c.1023G>T	16.37:g.51175110C>A	ENSP00000251020:p.Met341Ile					SALL1_ENST00000541611.1_Intron|SALL1_ENST00000566102.1_Intron|SALL1_ENST00000251020.4_Missense_Mutation_p.M341I	p.M244I	NM_001127892.1	NP_001121364.1	Q9NSC2	SALL1_HUMAN	COAD - Colon adenocarcinoma(2;0.24)		2	1163	-		all_cancers(37;0.0322)	341					Q99881|Q9NSC3|Q9P1R0	Missense_Mutation	SNP	ENST00000251020.4	37	c.732G>T	CCDS10747.1	.	.	.	.	.	.	.	.	.	.	C	7.406	0.633679	0.14322	.	.	ENSG00000103449	ENST00000251020;ENST00000440970;ENST00000457559	T;T	0.05649	3.41;3.43	4.39	-8.4	0.00965	.	0.593745	0.17672	N	0.165941	T	0.02156	0.0067	N	0.12182	0.205	0.09310	N	0.999999	B	0.02656	0.0	B	0.01281	0.0	T	0.33059	-0.9883	10	0.26408	T	0.33	0.8087	4.5657	0.12186	0.3553:0.4381:0.1271:0.0795	.	341	Q9NSC2	SALL1_HUMAN	I	341;244;305	ENSP00000251020:M341I;ENSP00000407914:M244I	ENSP00000251020:M341I	M	-	3	0	SALL1	49732611	0.052000	0.20516	0.000000	0.03702	0.904000	0.53231	-0.468000	0.06656	-1.089000	0.03073	0.313000	0.20887	ATG		0.537	SALL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256883.2	NM_002968		9	92	1	0	1.11149e-13	1	1.18438e-13	9	92					A	51175110	C	A	51175110	3	1	317	1	0	0	0	0	1	0	0	0	13810	826	29	5	2959	5	SALL1	16	51175110	Missense_Mutation	SNP	C	TCGA-KK-A6E6-01A-11D-A30X-08	19701612	51175110	39179643	43	16288											
KLHDC4	54758	broad.mit.edu	37	chr16	87760499	87760499	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgtgaaggtgtccagattaaAggcatacacgtcgttgtagt	11	12	12	6	2	0	2	0	1	0	1	2	2	1	2	1	2	1	3	1	2	5	4			TCGA-KK-A6E6-01A-11D-A30X-08	TCGA-KK-A6E6-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a006949-56b7-4774-9768-6f384207ff48	605429ab-6e57-4c37-a6f9-85ef92e057f5	g.chr16:87760499A>G	ENST00000270583.5	-	7	689	c.631T>C	c.(631-633)Ttt>Ctt	p.F211L	KLHDC4_ENST00000347925.5_Missense_Mutation_p.F180L|KLHDC4_ENST00000353170.5_Missense_Mutation_p.F154L|KLHDC4_ENST00000566349.1_5'UTR	NM_017566.3	NP_060036.2	Q8TBB5	KLDC4_HUMAN	kelch domain containing 4	211										breast(2)|endometrium(3)|lung(10)|pancreas(2)|prostate(1)|skin(1)|urinary_tract(2)	21				BRCA - Breast invasive adenocarcinoma(80;0.0283)		TCCAGATTAAAGGCATACACG	0.532																																						ENST00000270583.5																			0				breast(2)|endometrium(3)|lung(10)|pancreas(2)|prostate(1)|skin(1)|urinary_tract(2)	21						c.(631-633)Ttt>Ctt		kelch domain containing 4							98	94	96					16																	87760499		2198	4300	6498	SO:0001583	missense	54758							g.chr16:87760499A>G	AK001742	CCDS10963.1, CCDS54050.1, CCDS54051.1	16q24	2008-02-05			ENSG00000104731	ENSG00000104731			25272	protein-coding gene	gene with protein product							Standard	NM_001184854		Approved	DKFZp434G0522	uc002fki.3	Q8TBB5	OTTHUMG00000137657	ENST00000270583.5:c.631T>C	16.37:g.87760499A>G	ENSP00000270583:p.Phe211Leu					KLHDC4_ENST00000566349.1_5'UTR|KLHDC4_ENST00000353170.5_Missense_Mutation_p.F154L|KLHDC4_ENST00000347925.5_Missense_Mutation_p.F180L	p.F211L	NM_017566.3	NP_060036.2	Q8TBB5	KLDC4_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0283)	7	689	-			211					D3DUN3|D3DUN4|D3DUN5|Q96F29|Q9BVN3	Missense_Mutation	SNP	ENST00000270583.5	37	c.631T>C	CCDS10963.1	.	.	.	.	.	.	.	.	.	.	A	22.2	4.259527	0.80246	.	.	ENSG00000104731	ENST00000270583;ENST00000316853;ENST00000347925;ENST00000353170	T;T;T	0.69685	-0.42;-0.42;-0.42	5.69	5.69	0.88448	Kelch-type beta propeller (1);	0.000000	0.85682	D	0.000000	T	0.70928	0.3280	L	0.28608	0.87	0.80722	D	1	D;D;D;P	0.89917	1.0;1.0;0.998;0.942	D;D;D;B	0.87578	0.998;0.992;0.972;0.443	T	0.65853	-0.6067	10	0.14252	T	0.57	-14.4099	15.135	0.72558	1.0:0.0:0.0:0.0	.	30;154;180;211	Q9UF94;Q8TBB5-2;Q8TBB5-3;Q8TBB5	.;.;.;KLDC4_HUMAN	L	211;30;180;154	ENSP00000270583:F211L;ENSP00000325717:F180L;ENSP00000262530:F154L	ENSP00000270583:F211L	F	-	1	0	KLHDC4	86318000	1.000000	0.71417	0.917000	0.36280	0.240000	0.25518	8.432000	0.90288	2.163000	0.67991	0.533000	0.62120	TTT		0.532	KLHDC4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000269109.2	NM_017566		9	29	0	0	0	1	0	9	29					G	87760499	A	G	87760499	3	3	317	1	0	0	0	0	1	0	0	0	8358	72	3	4	951	4	KLHDC4	16	87760499	Missense_Mutation	SNP	A	TCGA-KK-A6E6-01A-11D-A30X-08	36585389	87760499	2594254	44	16289											
NEURL4	84461	broad.mit.edu	37	chr17	7222513	7222513	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gatgtccactgtcggtttagGaaatctatccgcacctgggg	8	11	12	10	2	1	0	0	0	1	0	4	2	3	1	3	4	0	2	3	4	3	3			TCGA-KK-A6E6-01A-11D-A30X-08	TCGA-KK-A6E6-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a006949-56b7-4774-9768-6f384207ff48	605429ab-6e57-4c37-a6f9-85ef92e057f5	g.chr17:7222513G>A	ENST00000399464.2	-	22	3555	c.3540C>T	c.(3538-3540)ttC>ttT	p.F1180F	RP11-542C16.2_ENST00000575474.1_5'Flank|NEURL4_ENST00000315614.7_Silent_p.F1178F|NEURL4_ENST00000574120.1_5'Flank|NEURL4_ENST00000570460.1_Silent_p.F1156F	NM_032442.2	NP_115818.2	Q96JN8	NEUL4_HUMAN	neuralized E3 ubiquitin protein ligase 4	1180	NHR 6. {ECO:0000255|PROSITE- ProRule:PRU00400}.					cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						GTCGGTTTAGGAAATCTATCC	0.567																																						ENST00000399464.2																			0				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						c.(3538-3540)ttC>ttT		neuralized E3 ubiquitin protein ligase 4							50	59	56					17																	7222513		2011	4175	6186	SO:0001819	synonymous_variant	84461							g.chr17:7222513G>A		CCDS42251.1, CCDS42252.1	17p13	2013-10-24	2013-10-24		ENSG00000215041	ENSG00000215041			34410	protein-coding gene	gene with protein product		615865	"neuralized homolog 4 (Drosophila)"			22261722, 22441691	Standard	NM_001005408		Approved	KIAA1787	uc002gga.1	Q96JN8	OTTHUMG00000132319	ENST00000399464.2:c.3540C>T	17.37:g.7222513G>A						NEURL4_ENST00000315614.7_Silent_p.F1178F|NEURL4_ENST00000570460.1_Silent_p.F1156F	p.F1180F	NM_032442.2	NP_115818.2					22	3555	-								Q6GPI8|Q96IU9|Q9H0B0	Silent	SNP	ENST00000399464.2	37	c.3540C>T	CCDS42251.1																																																																																				0.567	NEURL4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255434.2	NM_032442		9	34	0	0	0	1	0	9	34					A	7222513	G	A	7222513	2	1	317	1	0	0	0	0	0	0	0	1	10347	1165	41	3		3	NEURL4	17	7222513	Silent	SNP	G	TCGA-KK-A6E6-01A-11D-A30X-08		7222513	73972697	45	16290											
PNMT	5409	broad.mit.edu	37	chr17	37826226	37826226	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aatgctggcaggataaggagCgccagctgcgagccagggtg	10	5	17	9	2	0	0	0	0	0	0	0	3	0	2	2	4	5	3	2	4	2	1			TCGA-KK-A6E6-01A-11D-A30X-08	TCGA-KK-A6E6-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a006949-56b7-4774-9768-6f384207ff48	605429ab-6e57-4c37-a6f9-85ef92e057f5	g.chr17:37826226C>T	ENST00000269582.2	+	3	751	c.433C>T	c.(433-435)Cgc>Tgc	p.R145C	PNMT_ENST00000581428.1_3'UTR|PNMT_ENST00000394246.1_Missense_Mutation_p.R47C	NM_002686.3	NP_002677.1	P11086	PNMT_HUMAN	phenylethanolamine N-methyltransferase	145					catecholamine biosynthetic process (GO:0042423)|cellular nitrogen compound metabolic process (GO:0034641)|epinephrine biosynthetic process (GO:0042418)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	phenylethanolamine N-methyltransferase activity (GO:0004603)			NS(1)|breast(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	8	all_cancers(6;6.59e-85)|all_epithelial(6;2.89e-103)|Breast(7;1.05e-86)|Lung NSC(9;1.15e-09)|all_lung(9;6.24e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|BRCA - Breast invasive adenocarcinoma(8;3.87e-45)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			GGATAAGGAGCGCCAGCTGCG	0.662																																						ENST00000269582.2																			0				NS(1)|breast(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	8						c.(433-435)Cgc>Tgc		phenylethanolamine N-methyltransferase							38	42	40					17																	37826226		2203	4299	6502	SO:0001583	missense	5409				catecholamine biosynthetic process|hormone biosynthetic process	cytosol	phenylethanolamine N-methyltransferase activity	g.chr17:37826226C>T		CCDS11343.1	17q	2010-04-16			ENSG00000141744	ENSG00000141744	2.1.1.28		9160	protein-coding gene	gene with protein product		171190		PENT		3372503	Standard	NM_002686		Approved		uc002hsi.2	P11086	OTTHUMG00000133209	ENST00000269582.2:c.433C>T	17.37:g.37826226C>T	ENSP00000269582:p.Arg145Cys					PNMT_ENST00000394246.1_Missense_Mutation_p.R47C|PNMT_ENST00000581428.1_3'UTR	p.R145C	NM_002686.3	NP_002677.1	P11086	PNMT_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|BRCA - Breast invasive adenocarcinoma(8;3.87e-45)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)		3	751	+	all_cancers(6;6.59e-85)|all_epithelial(6;2.89e-103)|Breast(7;1.05e-86)|Lung NSC(9;1.15e-09)|all_lung(9;6.24e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		145						Missense_Mutation	SNP	ENST00000269582.2	37	c.433C>T	CCDS11343.1	.	.	.	.	.	.	.	.	.	.	C	11.65	1.702918	0.30232	.	.	ENSG00000141744	ENST00000394246;ENST00000269582	T;T	0.04234	3.67;3.67	4.94	1.47	0.22746	.	0.582482	0.17977	N	0.155673	T	0.03959	0.0111	L	0.36672	1.1	0.80722	D	1	B	0.19073	0.033	B	0.09377	0.004	T	0.41161	-0.9524	10	0.56958	D	0.05	-5.0196	4.5656	0.12184	0.2922:0.5279:0.0:0.1798	.	145	P11086	PNMT_HUMAN	C	47;145	ENSP00000377791:R47C;ENSP00000269582:R145C	ENSP00000269582:R145C	R	+	1	0	PNMT	35079752	0.003000	0.15002	0.960000	0.40013	0.804000	0.45430	-0.219000	0.09228	0.053000	0.16036	-0.500000	0.04577	CGC		0.662	PNMT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256923.2	NM_002686		7	59	0	0	0	1	0	7	59					T	37826226	C	T	37826226	3	4	317	1	0	0	0	0	1	0	0	0	12159	768	27	1	443	1	PNMT	17	37826226	Missense_Mutation	SNP	C	TCGA-KK-A6E6-01A-11D-A30X-08	30603713	37826226	43368984	46	16291											
TXNDC2	84203	broad.mit.edu	37	chr18	9888099	9888099	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gatgaactttgcggcgccctTaaggaaaaacttgaagcagt	13	9	11	8	2	0	2	0	2	0	0	0	4	0	3	1	2	4	1	1	2	5	3			TCGA-KK-A6E6-01A-11D-A30X-08	TCGA-KK-A6E6-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a006949-56b7-4774-9768-6f384207ff48	605429ab-6e57-4c37-a6f9-85ef92e057f5	g.chr18:9888099T>G	ENST00000306084.6	+	2	1822	c.1623T>G	c.(1621-1623)ctT>ctG	p.L541L	TXNDC2_ENST00000357775.5_Silent_p.L474L|TXNDC2_ENST00000536353.2_3'UTR	NM_001098529.1	NP_001091999.1	Q86VQ3	TXND2_HUMAN	thioredoxin domain containing 2 (spermatozoa)	541	Thioredoxin. {ECO:0000255|PROSITE- ProRule:PRU00691}.				cell differentiation (GO:0030154)|cell redox homeostasis (GO:0045454)|glycerol ether metabolic process (GO:0006662)|multicellular organismal development (GO:0007275)|oxidation-reduction process (GO:0055114)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|motile cilium (GO:0031514)|nucleolus (GO:0005730)|nucleus (GO:0005634)|outer dense fiber (GO:0001520)	nutrient reservoir activity (GO:0045735)|protein disulfide isomerase activity (GO:0003756)|protein disulfide oxidoreductase activity (GO:0015035)|thioredoxin-disulfide reductase activity (GO:0004791)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(7)|urinary_tract(1)	31						GCGGCGCCCTTAAGGAAAAAC	0.393																																						ENST00000306084.6																			0				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(7)|urinary_tract(1)	31						c.(1621-1623)ctT>ctG		thioredoxin domain containing 2 (spermatozoa)							29	30	29					18																	9888099		2203	4300	6503	SO:0001819	synonymous_variant	0				cell differentiation|cell redox homeostasis|glycerol ether metabolic process|multicellular organismal development|spermatogenesis	cytoplasm	electron carrier activity|nutrient reservoir activity|protein disulfide oxidoreductase activity|thioredoxin-disulfide reductase activity	g.chr18:9888099T>G	AF080095	CCDS11846.1, CCDS42414.1	18p11.31-p11.2	2009-03-11	2009-03-11	2007-08-16	ENSG00000168454	ENSG00000168454			16470	protein-coding gene	gene with protein product	"sperm-specific thioredoxin 1"					11230166, 11399755	Standard	NM_001098529		Approved	SPTRX1	uc002koi.4	Q86VQ3	OTTHUMG00000131602	ENST00000306084.6:c.1623T>G	18.37:g.9888099T>G						TXNDC2_ENST00000536353.2_3'UTR|TXNDC2_ENST00000357775.4_Silent_p.L474L|TXNDC2_ENST00000577697.1_3'UTR	p.L541L	NM_001098529.1	NP_001091999.1	Q86VQ3	TXND2_HUMAN			2	1822	+			541			Thioredoxin.		A5YM73|Q8N7U4|Q96RX3|Q9H0L8	Silent	SNP	ENST00000306084.6	37	c.1623T>G	CCDS42414.1																																																																																				0.393	TXNDC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254487.1			8	15	0	0	0	1	0	8	15					G	9888099	T	G	9888099	2	3	317	1	0	0	0	0	0	0	0	1	16794	1741	61	5		5	TXNDC2	18	9888099	Silent	SNP	T	TCGA-KK-A6E6-01A-11D-A30X-08		9888099	68189149	47	16292											
SUPT5H	6829	broad.mit.edu	37	chr19	39964093	39964093	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tacggctcacagacgcccctGcatgatggcagccgcactcc	8	6	10	17	3	1	2	1	1	0	1	2	2	2	2	4	2	3	4	4	2	1	1			TCGA-KK-A6E6-01A-11D-A30X-08	TCGA-KK-A6E6-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a006949-56b7-4774-9768-6f384207ff48	605429ab-6e57-4c37-a6f9-85ef92e057f5	g.chr19:39964093G>A	ENST00000599117.1	+	26	2791	c.2424G>A	c.(2422-2424)ctG>ctA	p.L808L	SUPT5H_ENST00000402194.2_Silent_p.L804L|SUPT5H_ENST00000598725.1_Silent_p.L808L|SUPT5H_ENST00000359191.6_Silent_p.L804L|SUPT5H_ENST00000432763.2_Silent_p.L808L			O00267	SPT5H_HUMAN	suppressor of Ty 5 homolog (S. cerevisiae)	808	9 X 7 AA approximate tandem repeats of G- S-[QR]-T-P-X-[YQ], motif CTR1.				7-methylguanosine mRNA capping (GO:0006370)|cell cycle (GO:0007049)|chromatin remodeling (GO:0006338)|DNA-templated transcription, elongation (GO:0006354)|gene expression (GO:0010467)|negative regulation of DNA-templated transcription, elongation (GO:0032785)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|positive regulation of macroautophagy (GO:0016239)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of viral transcription (GO:0050434)|response to organic substance (GO:0010033)|single stranded viral RNA replication via double stranded DNA intermediate (GO:0039692)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	DSIF complex (GO:0032044)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|poly(A) RNA binding (GO:0044822)|protein heterodimerization activity (GO:0046982)			breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(13)|lung(12)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	51	all_cancers(60;6.69e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;1.57e-06)|Ovarian(47;0.159)		Epithelial(26;3.9e-26)|all cancers(26;1.35e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			AGACGCCCCTGCATGATGGCA	0.632																																						ENST00000599117.1																			0				breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(13)|lung(12)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	51						c.(2422-2424)ctG>ctA		suppressor of Ty 5 homolog (S. cerevisiae)							82	80	81					19																	39964093		2203	4300	6503	SO:0001819	synonymous_variant	6829				cell cycle|chromatin remodeling|mRNA capping|negative regulation of transcription elongation, DNA-dependent|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription elongation from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|response to organic substance|retroviral genome replication|transcription elongation from RNA polymerase II promoter	nucleoplasm	enzyme binding|protein heterodimerization activity	g.chr19:39964093G>A	U56402	CCDS12536.1, CCDS46072.1	19q13	2008-07-22	2001-11-28			ENSG00000196235			11469	protein-coding gene	gene with protein product		602102	"suppressor of Ty (S.cerevisiae) 5 homolog"			8975720	Standard	NM_003169		Approved	SPT5H, SPT5, FLJ34157	uc002olp.4	O00267		ENST00000599117.1:c.2424G>A	19.37:g.39964093G>A						SUPT5H_ENST00000432763.2_Silent_p.L808L|SUPT5H_ENST00000402194.2_Silent_p.L804L|SUPT5H_ENST00000598725.1_Silent_p.L808L|SUPT5H_ENST00000359191.6_Silent_p.L804L	p.L808L			O00267	SPT5H_HUMAN	Epithelial(26;3.9e-26)|all cancers(26;1.35e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)		26	2791	+	all_cancers(60;6.69e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;1.57e-06)|Ovarian(47;0.159)		808			9 X 7 AA approximate tandem repeats of G- S-[QR]-T-P-X-[YQ], motif CTR1.		O43279|Q59G52|Q99639	Silent	SNP	ENST00000599117.1	37	c.2424G>A	CCDS12536.1																																																																																				0.632	SUPT5H-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000464918.1	NM_003169		20	72	0	0	0	1	0	20	72					A	39964093	G	A	39964093	2	1	317	1	0	0	0	0	0	0	0	1	15396	1306	46	3		3	SUPT5H	19	39964093	Silent	SNP	G	TCGA-KK-A6E6-01A-11D-A30X-08		39964093	19164890	48	16293											
KIF16B	55614	broad.mit.edu	37	chr20	16360454	16360454	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tctttttccttttggagctgGtccagttcttgaaatatctg	6	19	8	8	0	3	1	0	1	3	0	5	2	5	2	2	2	1	2	2	2	2	7			TCGA-KK-A6E6-01A-11D-A30X-08	TCGA-KK-A6E6-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a006949-56b7-4774-9768-6f384207ff48	605429ab-6e57-4c37-a6f9-85ef92e057f5	g.chr20:16360454G>A	ENST00000354981.2	-	19	2350	c.2193C>T	c.(2191-2193)gaC>gaT	p.D731D	KIF16B_ENST00000355755.3_Silent_p.D731D|KIF16B_ENST00000408042.1_Silent_p.D731D|KIF16B_ENST00000378003.2_5'UTR	NM_001199865.1|NM_024704.4	NP_001186794.1|NP_078980.3	Q96L93	KI16B_HUMAN	kinesin family member 16B	731	Glu-rich.				ATP catabolic process (GO:0006200)|early endosome to late endosome transport (GO:0045022)|endoderm development (GO:0007492)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|formation of primary germ layer (GO:0001704)|Golgi to endosome transport (GO:0006895)|microtubule-based movement (GO:0007018)|receptor catabolic process (GO:0032801)|regulation of receptor recycling (GO:0001919)	early endosome (GO:0005769)|endosome (GO:0005768)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|plus-end-directed microtubule motor activity (GO:0008574)			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2)	74						TTTGGAGCTGGTCCAGTTCTT	0.458																																						ENST00000354981.2																			0				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2)	74						c.(2191-2193)gaC>gaT		kinesin family member 16B							160	148	152					20																	16360454		2203	4300	6503	SO:0001819	synonymous_variant	55614				cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|Golgi to endosome transport|microtubule-based movement|receptor catabolic process|regulation of receptor recycling	early endosome membrane|microtubule	ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity	g.chr20:16360454G>A	AK000142	CCDS13122.1, CCDS56178.1	20p11.23	2008-03-03	2008-03-03	2008-03-03	ENSG00000089177	ENSG00000089177		"Kinesins"	15869	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 23"	C20orf23		16084724, 16782399	Standard	NM_024704		Approved	FLJ20135, dJ971B4.1, SNX23	uc010gci.2	Q96L93	OTTHUMG00000031927	ENST00000354981.2:c.2193C>T	20.37:g.16360454G>A						KIF16B_ENST00000378003.2_5'UTR|KIF16B_ENST00000408042.1_Silent_p.D731D|KIF16B_ENST00000355755.3_Silent_p.D731D	p.D731D	NM_001199865.1|NM_024704.4	NP_001186794.1|NP_078980.3	Q96L93	KI16B_HUMAN			19	2350	-			731			Glu-rich.		A6NKJ9|A7E2A8|B1AKG3|B1AKT7|C9JDN5|C9JI52|C9JSM8|C9JWJ7|Q2TBF5|Q5HYC0|Q5HYK1|Q5JWW3|Q5TFK5|Q86VL9|Q86YS5|Q8IYU0|Q9BQJ8|Q9BQM0|Q9BQM1|Q9BQM5|Q9H5U0|Q9HCI2|Q9NXN9	Silent	SNP	ENST00000354981.2	37	c.2193C>T	CCDS13122.1	.	.	.	.	.	.	.	.	.	.	G	0.024	-1.389686	0.01185	.	.	ENSG00000089177	ENST00000450176	.	.	.	5.28	2.04	0.26737	.	.	.	.	.	T	0.44519	0.1297	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.27054	-1.0085	4	.	.	.	.	2.9632	0.05899	0.086:0.2548:0.3857:0.2734	.	.	.	.	I	166	.	.	T	-	2	0	KIF16B	16308454	0.950000	0.32346	0.645000	0.29479	0.103000	0.19146	0.916000	0.28651	0.591000	0.29711	0.655000	0.94253	ACC		0.458	KIF16B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078104.2	NM_017683		15	64	0	0	0	1	0	15	64					A	16360454	G	A	16360454	2	1	317	1	0	0	0	0	0	0	0	1	8278	1252	44	3		3	KIF16B	20	16360454	Silent	SNP	G	TCGA-KK-A6E6-01A-11D-A30X-08		16360454	46665066	49	16294											
CDH26	60437	broad.mit.edu	37	chr20	58564004	58564004	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcaaagcctcatcattgtcGtggagaatgaggagaggctc	11	8	13	9	2	2	3	2	1	0	2	4	5	2	3	1	3	1	2	1	3	2	1	rs369677402		TCGA-KK-A6E6-01A-11D-A30X-08	TCGA-KK-A6E6-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a006949-56b7-4774-9768-6f384207ff48	605429ab-6e57-4c37-a6f9-85ef92e057f5	g.chr20:58564004G>A	ENST00000244047.5	+	9	1380	c.1069G>A	c.(1069-1071)Gtg>Atg	p.V357M	CDH26_ENST00000348616.4_Missense_Mutation_p.V357M			Q8IXH8	CAD26_HUMAN	cadherin 26	357	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(11)|lung(14)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	44	all_lung(29;0.00963)		BRCA - Breast invasive adenocarcinoma(7;5.58e-09)			CATCATTGTCGTGGAGAATGA	0.567																																						ENST00000348616.4																			0				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(11)|lung(14)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	44						c.(1069-1071)Gtg>Atg		cadherin 26							60	65	63					20																	58564004		2203	4300	6503	SO:0001583	missense	60437				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr20:58564004G>A	AF169690, AK055202	CCDS13485.1, CCDS13486.1	20q13.33	2010-01-26	2009-11-20		ENSG00000124215	ENSG00000124215		"Cadherins / Major cadherins"	15902	protein-coding gene	gene with protein product			"cadherin-like 26"				Standard	NM_177980		Approved	VR20	uc002ybe.3	Q8IXH8	OTTHUMG00000032874	ENST00000244047.5:c.1069G>A	20.37:g.58564004G>A	ENSP00000244047:p.Val357Met					CDH26_ENST00000244047.5_Missense_Mutation_p.V357M	p.V357M	NM_177980.2	NP_817089.1	Q8IXH8	CAD26_HUMAN	BRCA - Breast invasive adenocarcinoma(7;5.58e-09)		9	1369	+	all_lung(29;0.00963)		357			Cadherin 3.		A2A2M5|B3KNX3|Q6P5Y6|Q8TCH3|Q9BQN4|Q9NRU1	Missense_Mutation	SNP	ENST00000244047.5	37	c.1069G>A		.	.	.	.	.	.	.	.	.	.	G	16.65	3.181699	0.57800	.	.	ENSG00000124215	ENST00000244047;ENST00000348616	T;T	0.66995	-0.24;-0.24	5.41	2.02	0.26589	.	0.255222	0.31102	N	0.008259	D	0.83216	0.5206	H	0.94503	3.545	0.09310	N	1	D	0.89917	1.0	D	0.87578	0.998	T	0.73199	-0.4058	10	0.87932	D	0	.	6.6552	0.22984	0.1739:0.1428:0.6833:0.0	.	357	Q8IXH8-4	.	M	357	ENSP00000244047:V357M;ENSP00000339390:V357M	ENSP00000244047:V357M	V	+	1	0	CDH26	57997399	0.058000	0.20735	0.000000	0.03702	0.062000	0.15995	0.973000	0.29422	0.232000	0.21100	0.655000	0.94253	GTG		0.567	CDH26-201	KNOWN	basic	protein_coding	protein_coding		NM_177980		7	49	0	0	0	1	0	7	49					A	58564004	G	A	58564004	3	1	317	1	0	0	0	0	1	0	0	0	3110	1145	40	1	1103	1	CDH26	20	58564004	Missense_Mutation	SNP	G	TCGA-KK-A6E6-01A-11D-A30X-08	42203550	58564004	4461516	50	16295											
DSCAM	1826	broad.mit.edu	37	chr21	41452117	41452117	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cttctatgatttcacttatgCgccctgggcccactccattt	6	15	6	14	1	2	1	1	1	1	0	3	1	3	1	3	1	1	0	3	1	2	5			TCGA-KK-A6E6-01A-11D-A30X-08	TCGA-KK-A6E6-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a006949-56b7-4774-9768-6f384207ff48	605429ab-6e57-4c37-a6f9-85ef92e057f5	g.chr21:41452117C>T	ENST00000400454.1	-	25	4859	c.4382G>A	c.(4381-4383)cGc>cAc	p.R1461H		NM_001271534.1|NM_001389.3	NP_001258463.1|NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	1461	Fibronectin type-III 5. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|dendrite morphogenesis (GO:0048813)|dendrite self-avoidance (GO:0070593)|locomotory behavior (GO:0007626)|negative regulation of cell adhesion (GO:0007162)|nervous system development (GO:0007399)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of phosphorylation (GO:0042327)|post-embryonic retina morphogenesis in camera-type eye (GO:0060060)	axon (GO:0030424)|extracellular region (GO:0005576)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				TTCACTTATGCGCCCTGGGCC	0.468																																					Melanoma(134;970 1778 1785 21664 32388)	ENST00000400454.1																			0				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142						c.(4381-4383)cGc>cAc		Down syndrome cell adhesion molecule							159	150	153					21																	41452117		1872	4125	5997	SO:0001583	missense	1826				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding	g.chr21:41452117C>T	AF023449	CCDS42929.1	21q22.2-q22.3	2013-02-11			ENSG00000171587	ENSG00000171587		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	3039	protein-coding gene	gene with protein product		602523				9426258	Standard	NM_001271534		Approved	CHD2-42, CHD2-52	uc002yyq.1	O60469	OTTHUMG00000086732	ENST00000400454.1:c.4382G>A	21.37:g.41452117C>T	ENSP00000383303:p.Arg1461His						p.R1461H	NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN			25	4859	-		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)	1461			Fibronectin type-III 5.		O60468	Missense_Mutation	SNP	ENST00000400454.1	37	c.4382G>A	CCDS42929.1	.	.	.	.	.	.	.	.	.	.	C	17.63	3.437548	0.62955	.	.	ENSG00000171587	ENST00000400454;ENST00000404019	T;T	0.57436	0.4;0.4	5.04	5.04	0.67666	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.65354	0.2683	L	0.39514	1.22	0.52501	D	0.999959	D	0.89917	1.0	D	0.87578	0.998	T	0.65557	-0.6139	10	0.46703	T	0.11	.	17.4011	0.87459	0.0:1.0:0.0:0.0	.	1461	O60469	DSCAM_HUMAN	H	1461;1213	ENSP00000383303:R1461H;ENSP00000385342:R1213H	ENSP00000383303:R1461H	R	-	2	0	DSCAM	40373987	1.000000	0.71417	1.000000	0.80357	0.051000	0.14879	7.699000	0.84547	2.338000	0.79540	0.563000	0.77884	CGC		0.468	DSCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195029.1	NM_001389		4	98	0	0	0	1	0	4	98					T	41452117	C	T	41452117	3	4	317	1	0	0	0	0	1	0	0	0	4768	768	27	1	1692	1	DSCAM	21	41452117	Missense_Mutation	SNP	C	TCGA-KK-A6E6-01A-11D-A30X-08		41452117	6677778	51	16296											
TEX11	56159	broad.mit.edu	37	chrX	69843845	69843845	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caatttttggaagaagaaaaCgaagcaaacacctgtatgac	18	8	8	7	1	0	3	0	1	0	2	0	5	0	4	1	1	3	2	1	1	8	3			TCGA-KK-A6E6-01A-11D-A30X-08	TCGA-KK-A6E6-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a006949-56b7-4774-9768-6f384207ff48	605429ab-6e57-4c37-a6f9-85ef92e057f5	g.chrX:69843845C>T	ENST00000395889.2	-	21	1906	c.1751G>A	c.(1750-1752)cGt>cAt	p.R584H	TEX11_ENST00000374333.2_Missense_Mutation_p.R569H|TEX11_ENST00000374320.2_Missense_Mutation_p.R259H|TEX11_ENST00000344304.3_Missense_Mutation_p.R584H	NM_001003811.1	NP_001003811.1	Q8IYF3	TEX11_HUMAN	testis expressed 11	584					chiasma assembly (GO:0051026)|fertilization (GO:0009566)|male gonad development (GO:0008584)|male meiosis chromosome segregation (GO:0007060)|meiotic gene conversion (GO:0006311)|negative regulation of apoptotic process (GO:0043066)|reciprocal meiotic recombination (GO:0007131)|resolution of meiotic recombination intermediates (GO:0000712)|synaptonemal complex assembly (GO:0007130)	central element (GO:0000801)				breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(13)|ovary(3)|prostate(3)|skin(3)	48	Renal(35;0.156)					AAGAAGAAAACGAAGCAAACA	0.323																																						ENST00000395889.2																			0				breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(13)|ovary(3)|prostate(3)|skin(3)	48						c.(1750-1752)cGt>cAt		testis expressed 11							92	89	90					X																	69843845		2203	4299	6502	SO:0001583	missense	0						protein binding	g.chrX:69843845C>T	AF285594	CCDS35323.1, CCDS43968.1	Xp11	2008-02-05	2007-03-13		ENSG00000120498	ENSG00000120498			11733	protein-coding gene	gene with protein product		300311	"testis expressed sequence 11"			11279525	Standard	NM_001003811		Approved	TSGA3, TGC1	uc004dyl.3	Q8IYF3	OTTHUMG00000021782	ENST00000395889.2:c.1751G>A	X.37:g.69843845C>T	ENSP00000379226:p.Arg584His					TEX11_ENST00000344304.3_Missense_Mutation_p.R584H|TEX11_ENST00000374333.2_Missense_Mutation_p.R569H|TEX11_ENST00000374320.2_Missense_Mutation_p.R259H	p.R584H	NM_001003811.1	NP_001003811.1	Q8IYF3	TEX11_HUMAN			21	1906	-	Renal(35;0.156)		584					A8K8V6|Q5JQQ8|Q96LZ4|Q96M47|Q9BXU6	Missense_Mutation	SNP	ENST00000395889.2	37	c.1751G>A	CCDS35323.1	.	.	.	.	.	.	.	.	.	.	C	0.887	-0.726841	0.03158	.	.	ENSG00000120498	ENST00000374333;ENST00000395889;ENST00000374320;ENST00000344304	T;T;T;T	0.53857	0.6;0.6;0.6;0.6	3.78	0.951	0.19579	.	0.242826	0.35124	N	0.003425	T	0.37183	0.0994	L	0.41961	1.31	0.09310	N	1	B;B	0.31100	0.308;0.205	B;B	0.30179	0.112;0.052	T	0.15665	-1.0429	9	.	.	.	.	6.1154	0.20124	0.0:0.635:0.0:0.365	.	569;584	Q8IYF3-3;Q8IYF3	.;TEX11_HUMAN	H	569;584;259;584	ENSP00000363453:R569H;ENSP00000379226:R584H;ENSP00000363440:R259H;ENSP00000340995:R584H	.	R	-	2	0	TEX11	69760570	0.158000	0.22850	0.001000	0.08648	0.003000	0.03518	-0.129000	0.10515	-0.039000	0.13602	-1.167000	0.01749	CGT		0.323	TEX11-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000359072.1			21	23	0	0	0	1	0	21	23					T	69843845	C	T	69843845	3	4	317	1	0	0	0	0	1	0	0	0	15771	536	19	1	1115	1	TEX11	23	69843845	Missense_Mutation	SNP	C	TCGA-KK-A6E6-01A-11D-A30X-08		69843845	85426715	52	16297											
LPAR4	2846	broad.mit.edu	37	chrX	78010846	78010846	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aattctgccattgtgtgtgcTggtgtctggatcctagtcct	5	16	11	9	0	2	0	0	0	2	0	4	1	4	1	3	2	2	1	3	2	2	3			TCGA-KK-A6E6-01A-11D-A30X-08	TCGA-KK-A6E6-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a006949-56b7-4774-9768-6f384207ff48	605429ab-6e57-4c37-a6f9-85ef92e057f5	g.chrX:78010846T>C	ENST00000435339.3	+	2	866	c.480T>C	c.(478-480)gcT>gcC	p.A160A		NM_005296.2	NP_005287.1	Q99677	LPAR4_HUMAN	lysophosphatidic acid receptor 4	160					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|lipid binding (GO:0008289)			breast(3)|endometrium(3)|kidney(4)|large_intestine(4)|lung(16)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	38						TTGTGTGTGCTGGTGTCTGGA	0.463																																						ENST00000435339.2																			0				breast(3)|endometrium(3)|kidney(4)|large_intestine(4)|lung(16)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	38						c.(478-480)gcT>gcC		lysophosphatidic acid receptor 4							170	114	133					X																	78010846		2203	4300	6503	SO:0001819	synonymous_variant	2846					integral to plasma membrane	lipid binding|purinergic nucleotide receptor activity, G-protein coupled	g.chrX:78010846T>C	U90322	CCDS14441.1	Xq21.1	2012-08-08	2008-04-11	2008-04-11	ENSG00000147145	ENSG00000147145		"GPCR / Class A : Lysophospholipid receptors : Lysophosphatidic acid"	4478	protein-coding gene	gene with protein product		300086	"G protein-coupled receptor 23"	GPR23			Standard	NM_005296		Approved	P2Y9, P2Y5-LIKE, P2RY9, LPA4	uc010nme.3	Q99677	OTTHUMG00000021895	ENST00000435339.3:c.480T>C	X.37:g.78010846T>C						LPAR4_ENST00000373301.2_Silent_p.A160A	p.A160A	NM_005296.2	NP_005287.1	Q99677	LPAR4_HUMAN			2	885	+			160					B2RAC7|O15132|Q502U9|Q6NSP5	Silent	SNP	ENST00000435339.3	37	c.480T>C	CCDS14441.1																																																																																				0.463	LPAR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057322.2	NM_005296		7	21	0	0	0	1	0	7	21					C	78010846	T	C	78010846	2	2	317	1	0	0	0	0	0	0	0	1	8907	1567	55	4		4	LPAR4	23	78010846	Silent	SNP	T	TCGA-KK-A6E6-01A-11D-A30X-08	8167001	78010846	77259714	53	16298											
GUCY2F	2986	broad.mit.edu	37	chrX	108641817	108641817	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	catgcagaatggggtaccccGgaccatcacttcttgcatga	10	9	10	12	1	2	2	1	1	1	1	2	3	2	3	3	3	3	3	3	3	2	3			TCGA-KK-A6E6-01A-11D-A30X-08	TCGA-KK-A6E6-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a006949-56b7-4774-9768-6f384207ff48	605429ab-6e57-4c37-a6f9-85ef92e057f5	g.chrX:108641817G>A	ENST00000218006.2	-	11	2527	c.2236C>T	c.(2236-2238)Cgg>Tgg	p.R746W		NM_001522.2	NP_001513.2	P51841	GUC2F_HUMAN	guanylate cyclase 2F, retinal	746	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				intracellular signal transduction (GO:0035556)|phototransduction, visible light (GO:0007603)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|nuclear outer membrane (GO:0005640)|photoreceptor disc membrane (GO:0097381)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|protein kinase activity (GO:0004672)|receptor activity (GO:0004872)			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(6)|large_intestine(14)|lung(33)|prostate(3)|skin(1)	67						GGGGTACCCCGGACCATCACT	0.542																																						ENST00000218006.2																			0				breast(3)|central_nervous_system(2)|endometrium(5)|kidney(6)|large_intestine(14)|lung(33)|prostate(3)|skin(1)	67						c.(2236-2238)Cgg>Tgg		guanylate cyclase 2F, retinal							104	85	92					X																	108641817		2203	4300	6503	SO:0001583	missense	2986				intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception	integral to plasma membrane|nuclear outer membrane	ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity	g.chrX:108641817G>A	L37378	CCDS14545.1	Xq22	2008-08-01			ENSG00000101890	ENSG00000101890			4691	protein-coding gene	gene with protein product	"guanylate cyclase 2D-like, membrane (retina-specific)"	300041				8838319, 7777544	Standard	NM_001522		Approved	GUC2DL, GC-F, RetGC-2, ROS-GC2, CYGF	uc004eod.4	P51841	OTTHUMG00000022184	ENST00000218006.2:c.2236C>T	X.37:g.108641817G>A	ENSP00000218006:p.Arg746Trp						p.R746W	NM_001522.2	NP_001513.2	P51841	GUC2F_HUMAN			11	2527	-			746			Protein kinase.		Q9UJF1	Missense_Mutation	SNP	ENST00000218006.2	37	c.2236C>T	CCDS14545.1	.	.	.	.	.	.	.	.	.	.	G	15.79	2.937979	0.52972	.	.	ENSG00000101890	ENST00000218006	T	0.63255	-0.03	3.98	3.11	0.35812	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.059431	0.64402	N	0.000002	T	0.77818	0.4187	M	0.84846	2.72	0.52099	D	0.999946	D	0.89917	1.0	D	0.79784	0.993	T	0.79147	-0.1923	10	0.87932	D	0	.	8.9117	0.35557	0.1151:0.0:0.8849:0.0	.	746	P51841	GUC2F_HUMAN	W	746	ENSP00000218006:R746W	ENSP00000218006:R746W	R	-	1	2	GUCY2F	108528473	0.939000	0.31865	0.983000	0.44433	0.996000	0.88848	2.654000	0.46699	1.027000	0.39758	0.594000	0.82650	CGG		0.542	GUCY2F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057884.1	NM_001522		9	42	0	0	0	1	0	9	42					A	108641817	G	A	108641817	3	1	317	1	0	0	0	0	1	0	0	0	6898	1115	39	2	1126	2	GUCY2F	23	108641817	Missense_Mutation	SNP	G	TCGA-KK-A6E6-01A-11D-A30X-08	30630971	108641817	46628743	54	16299											
RPS6KA1	6195	broad.mit.edu	37	chr1	26883148	26883148	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	catttgggctctttcaggctCcggccctgatggggcagagg	5	10	15	11	1	2	2	1	1	1	1	3	2	3	2	2	6	0	3	2	6	0	2			TCGA-KK-A6E7-01A-11D-A31L-08	TCGA-KK-A6E7-11A-11D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bde582d-6c64-4529-9771-e7f9df342b04	8a82ccc3-d5f6-4647-9699-604814692936	g.chr1:26883148C>T	ENST00000374168.2	+	12	1074	c.920C>T	c.(919-921)tCc>tTc	p.S307F	RPS6KA1_ENST00000531382.1_Missense_Mutation_p.S316F|RPS6KA1_ENST00000488985.1_3'UTR|MIR1976_ENST00000459548.1_RNA|RPS6KA1_ENST00000374166.4_Missense_Mutation_p.S296F|RPS6KA1_ENST00000530003.1_Missense_Mutation_p.S291F|RPS6KA1_ENST00000374162.2_Missense_Mutation_p.S215F|RPS6KA1_ENST00000526792.1_Missense_Mutation_p.S215F	NM_002953.3	NP_002944.2	Q15418	KS6A1_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 1	307	Protein kinase 1. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|cell cycle (GO:0007049)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell growth (GO:0030307)|positive regulation of hepatic stellate cell activation (GO:2000491)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of DNA-templated transcription in response to stress (GO:0043620)|regulation of translation in response to stress (GO:0043555)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|synaptic transmission (GO:0007268)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	ATP binding (GO:0005524)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)			lung(1)	1		all_cancers(24;2.49e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00571)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;1.12e-50)|OV - Ovarian serous cystadenocarcinoma(117;2.89e-29)|Colorectal(126;1.4e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000537)|KIRC - Kidney renal clear cell carcinoma(1967;0.000759)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0361)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.161)|LUSC - Lung squamous cell carcinoma(448;0.234)		CTTTCAGGCTCCGGCCCTGAT	0.592																																						ENST00000374168.2																			0				lung(1)	1						c.(919-921)tCc>tTc		ribosomal protein S6 kinase, 90kDa, polypeptide 1							101	93	96					1																	26883148		2203	4300	6503	SO:0001583	missense	6195				axon guidance|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|caspase inhibitor activity|magnesium ion binding|protein binding|protein serine/threonine kinase activity	g.chr1:26883148C>T	BC014966	CCDS284.1, CCDS30649.1	1p	2011-04-05	2002-08-29		ENSG00000117676	ENSG00000117676			10430	protein-coding gene	gene with protein product		601684	"ribosomal protein S6 kinase, 90kD, polypeptide 1"			8141249	Standard	NM_001006665		Approved	RSK, RSK1, HU-1	uc001bms.1	Q15418	OTTHUMG00000004003	ENST00000374168.2:c.920C>T	1.37:g.26883148C>T	ENSP00000363283:p.Ser307Phe					RPS6KA1_ENST00000526792.1_Missense_Mutation_p.S215F|RPS6KA1_ENST00000530003.1_Missense_Mutation_p.S291F|RPS6KA1_ENST00000374162.2_Missense_Mutation_p.S215F|RPS6KA1_ENST00000531382.1_Missense_Mutation_p.S316F|RPS6KA1_ENST00000488985.1_3'UTR|RPS6KA1_ENST00000374166.4_Missense_Mutation_p.S296F	p.S307F	NM_002953.3	NP_002944.2	Q15418	KS6A1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;1.12e-50)|OV - Ovarian serous cystadenocarcinoma(117;2.89e-29)|Colorectal(126;1.4e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000537)|KIRC - Kidney renal clear cell carcinoma(1967;0.000759)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0361)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.161)|LUSC - Lung squamous cell carcinoma(448;0.234)	12	1074	+		all_cancers(24;2.49e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00571)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	307			Protein kinase 1.		A6NGG4|A8K9K7|B2RDY8|B7Z5J0|Q5SVM5|Q5SVM8|Q5SVM9|Q96C05|Q9BQK2	Missense_Mutation	SNP	ENST00000374168.2	37	c.920C>T	CCDS284.1	.	.	.	.	.	.	.	.	.	.	C	29.3	4.995402	0.93167	.	.	ENSG00000117676	ENST00000374168;ENST00000374166;ENST00000526792;ENST00000374162;ENST00000530003;ENST00000374164;ENST00000531382	T;T;T;T;T;T	0.54071	0.59;0.59;0.59;0.59;0.59;0.59	5.73	5.73	0.89815	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.62901	0.2466	N	0.21097	0.63	0.80722	D	1	B;B;D	0.67145	0.036;0.201;0.996	B;B;D	0.79784	0.099;0.089;0.993	T	0.66650	-0.5870	10	0.87932	D	0	.	19.875	0.96867	0.0:1.0:0.0:0.0	.	291;316;307	B7Z2K7;Q15418-2;Q15418	.;.;KS6A1_HUMAN	F	307;296;215;215;291;27;316	ENSP00000363283:S307F;ENSP00000363281:S296F;ENSP00000431651:S215F;ENSP00000363277:S215F;ENSP00000432281:S291F;ENSP00000435412:S316F	ENSP00000363277:S215F	S	+	2	0	RPS6KA1	26755735	1.000000	0.71417	0.977000	0.42913	0.966000	0.64601	7.484000	0.81180	2.692000	0.91855	0.655000	0.94253	TCC		0.592	RPS6KA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011431.1	NM_002953		20	52	0	0	0	1	0	20	52					T	26883148	C	T	26883148	3	4	318	1	0	0	0	0	1	0	0	0	13650	855	30	3	1105	3	RPS6KA1	1	26883148	Missense_Mutation	SNP	C	TCGA-KK-A6E7-01A-11D-A31L-08		26883148	222367473	1	16300											
CELSR2	1952	broad.mit.edu	37	chr1	109794553	109794553	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cccaaccagagtacacagtgCggctcaatgaggatgcagct	12	6	11	12	1	1	2	1	1	0	1	1	3	1	3	2	2	5	4	2	2	3	1			TCGA-KK-A6E7-01A-11D-A31L-08	TCGA-KK-A6E7-11A-11D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bde582d-6c64-4529-9771-e7f9df342b04	8a82ccc3-d5f6-4647-9699-604814692936	g.chr1:109794553C>T	ENST00000271332.3	+	1	1913	c.1852C>T	c.(1852-1854)Cgg>Tgg	p.R618W		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	618	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cerebrospinal fluid secretion (GO:0033326)|cilium assembly (GO:0042384)|cilium movement (GO:0003341)|dendrite morphogenesis (GO:0048813)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neural plate anterior/posterior regionalization (GO:0021999)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of cell-cell adhesion (GO:0022407)|regulation of protein localization (GO:0032880)|regulation of transcription, DNA-templated (GO:0006355)|ventricular system development (GO:0021591)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		GTACACAGTGCGGCTCAATGA	0.562																																					NSCLC(158;1285 2011 34800 34852 42084)	ENST00000271332.3																			0				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82						c.(1852-1854)Cgg>Tgg		cadherin, EGF LAG seven-pass G-type receptor 2							171	150	157					1																	109794553		2203	4300	6503	SO:0001583	missense	1952				dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding	g.chr1:109794553C>T	D87469	CCDS796.1	1p13.3	2014-08-08	2013-02-18		ENSG00000143126	ENSG00000143126		"Cadherins / Major cadherins", "-", "GPCR / Class B : Orphans"	3231	protein-coding gene	gene with protein product		604265	"cadherin, EGF LAG seven-pass G-type receptor 2, flamingo (Drosophila) homolog"	EGFL2		9693030, 10907856	Standard	NM_001408		Approved	KIAA0279, MEGF3, Flamingo1, CDHF10	uc001dxa.4	Q9HCU4	OTTHUMG00000012003	ENST00000271332.3:c.1852C>T	1.37:g.109794553C>T	ENSP00000271332:p.Arg618Trp						p.R618W	NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)	1	1913	+		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)	618			Cadherin 5.		Q5T2Y7|Q92566	Missense_Mutation	SNP	ENST00000271332.3	37	c.1852C>T	CCDS796.1	.	.	.	.	.	.	.	.	.	.	N	17.72	3.460010	0.63401	.	.	ENSG00000143126	ENST00000271332	T	0.01804	4.63	4.95	4.02	0.46733	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.04724	0.0128	M	0.71871	2.18	0.48511	D	0.999667	D	0.89917	1.0	D	0.85130	0.997	T	0.43491	-0.9388	9	0.38643	T	0.18	.	14.5643	0.68165	0.1552:0.8448:0.0:0.0	.	618	Q9HCU4	CELR2_HUMAN	W	618	ENSP00000271332:R618W	ENSP00000271332:R618W	R	+	1	2	CELSR2	109596076	0.997000	0.39634	0.999000	0.59377	0.944000	0.59088	0.713000	0.25794	1.292000	0.44672	0.650000	0.86243	CGG		0.562	CELSR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033200.1	NM_001408		4	113	0	0	0	1	0	4	113					T	109794553	C	T	109794553	3	4	318	1	0	0	0	0	1	0	0	0	3222	759	27	1	1854	1	CELSR2	1	109794553	Missense_Mutation	SNP	C	TCGA-KK-A6E7-01A-11D-A31L-08	82911405	109794553	139456068	2	16301											
KCNA3	3738	broad.mit.edu	37	chr1	111217282	111217282	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcaccacggtcatgtcgggCggcagctcgcggcctgcggc	4	5	17	15	6	1	0	1	0	0	0	3	0	1	0	2	6	2	3	2	6	0	0			TCGA-KK-A6E7-01A-11D-A31L-08	TCGA-KK-A6E7-11A-11D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bde582d-6c64-4529-9771-e7f9df342b04	8a82ccc3-d5f6-4647-9699-604814692936	g.chr1:111217282C>T	ENST00000369769.2	-	1	373	c.150G>A	c.(148-150)ccG>ccA	p.P50P		NM_002232.3	NP_002223.3	P22001	KCNA3_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 3	50					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	membrane raft (GO:0045121)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|outward rectifier potassium channel activity (GO:0015271)|voltage-gated ion channel activity (GO:0005244)			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(7)|ovary(4)|pancreas(1)|prostate(3)|skin(1)	38		all_cancers(81;3.92e-06)|all_epithelial(167;1.28e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Lung(183;0.0235)|Colorectal(144;0.0306)|all cancers(265;0.0752)|Epithelial(280;0.0821)|COAD - Colon adenocarcinoma(174;0.132)|LUSC - Lung squamous cell carcinoma(189;0.133)	Dalfampridine(DB06637)	TCATGTCGGGCGGCAGCTCGC	0.776																																						ENST00000369769.2																			0				endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(7)|ovary(4)|pancreas(1)|prostate(3)|skin(1)	38						c.(148-150)ccG>ccA		potassium voltage-gated channel, shaker-related subfamily, member 3							5	6	6					1																	111217282		1313	2926	4239	SO:0001819	synonymous_variant	3738					voltage-gated potassium channel complex	delayed rectifier potassium channel activity	g.chr1:111217282C>T	L23499	CCDS828.2	1p13.3	2012-07-05			ENSG00000177272	ENSG00000177272		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6221	protein-coding gene	gene with protein product		176263				2251283, 16382104	Standard	NM_002232		Approved	Kv1.3, MK3, HLK3, HPCN3	uc001dzv.1	P22001	OTTHUMG00000034493	ENST00000369769.2:c.150G>A	1.37:g.111217282C>T							p.P50P	NM_002232.3	NP_002223.3	P22001	KCNA3_HUMAN		Lung(183;0.0235)|Colorectal(144;0.0306)|all cancers(265;0.0752)|Epithelial(280;0.0821)|COAD - Colon adenocarcinoma(174;0.132)|LUSC - Lung squamous cell carcinoma(189;0.133)	1	373	-		all_cancers(81;3.92e-06)|all_epithelial(167;1.28e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)	50					Q5VWN2	Silent	SNP	ENST00000369769.2	37	c.150G>A	CCDS828.2																																																																																				0.776	KCNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083391.1	NM_002232		5	17	0	0	0	1	0	5	17					T	111217282	C	T	111217282	2	4	318	1	0	0	0	0	0	0	0	1	8004	755	27	1		1	KCNA3	1	111217282	Silent	SNP	C	TCGA-KK-A6E7-01A-11D-A31L-08	1422729	111217282	138033339	3	16302											
PI4KB	5298	broad.mit.edu	37	chr1	151288289	151288289	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgtcgttgagtggaaatgtgCatgtctgaagaataggcccc	10	11	13	7	1	1	3	0	2	1	1	2	4	1	4	2	2	1	2	2	2	4	2			TCGA-KK-A6E7-01A-11D-A31L-08	TCGA-KK-A6E7-11A-11D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bde582d-6c64-4529-9771-e7f9df342b04	8a82ccc3-d5f6-4647-9699-604814692936	g.chr1:151288289C>T	ENST00000368873.1	-	2	837	c.669G>A	c.(667-669)atG>atA	p.M223I	PI4KB_ENST00000529142.1_Intron|PI4KB_ENST00000271657.5_Missense_Mutation_p.M235I|PI4KB_ENST00000368872.1_Missense_Mutation_p.M223I|PI4KB_ENST00000368874.4_Missense_Mutation_p.M223I|PI4KB_ENST00000368875.2_Missense_Mutation_p.M235I			Q9UBF8	PI4KB_HUMAN	phosphatidylinositol 4-kinase, catalytic, beta	223	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.				phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|receptor-mediated endocytosis (GO:0006898)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi membrane (GO:0000139)|mitochondrial outer membrane (GO:0005741)|plasma membrane (GO:0005886)	1-phosphatidylinositol 4-kinase activity (GO:0004430)|ATP binding (GO:0005524)			breast(3)|endometrium(5)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	27	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			TGGAAATGTGCATGTCTGAAG	0.542																																					Colon(154;765 1838 9854 28443 37492)	ENST00000368875.2																			0				breast(3)|endometrium(5)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	27						c.(703-705)atG>atA		phosphatidylinositol 4-kinase, catalytic, beta							104	87	93					1																	151288289		2203	4300	6503	SO:0001583	missense	5298				phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|receptor-mediated endocytosis	endosome|Golgi apparatus|mitochondrial outer membrane|perinuclear region of cytoplasm|rough endoplasmic reticulum membrane	1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding	g.chr1:151288289C>T	AB005910	CCDS993.1, CCDS55637.1, CCDS55638.1	1q21	2008-02-05	2007-08-14	2007-08-02	ENSG00000143393	ENSG00000143393			8984	protein-coding gene	gene with protein product		602758		PIK4CB		9020160, 9405938	Standard	NM_002651		Approved	PI4K-BETA, pi4K92	uc001exu.3	Q9UBF8	OTTHUMG00000012348	ENST00000368873.1:c.669G>A	1.37:g.151288289C>T	ENSP00000357867:p.Met223Ile					PI4KB_ENST00000271657.5_Missense_Mutation_p.M235I|PI4KB_ENST00000529142.1_Intron|PI4KB_ENST00000368873.1_Missense_Mutation_p.M223I|PI4KB_ENST00000368874.4_Missense_Mutation_p.M223I|PI4KB_ENST00000368872.1_Missense_Mutation_p.M223I	p.M235I	NM_002651.2	NP_002642.1	Q9UBF8	PI4KB_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)		3	1285	-	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		223					B4DGI2|O15096|P78405|Q5VWB9|Q5VWC0|Q5VWC1|Q9BWR6	Missense_Mutation	SNP	ENST00000368873.1	37	c.705G>A		.	.	.	.	.	.	.	.	.	.	C	14.01	2.406703	0.42715	.	.	ENSG00000143393	ENST00000368874;ENST00000368875;ENST00000271657;ENST00000368873;ENST00000368872;ENST00000438243	T;T;T;T;T;T	0.57107	0.42;0.42;0.42;0.42;0.42;0.42	4.84	4.84	0.62591	.	0.000000	0.85682	D	0.000000	T	0.32406	0.0828	L	0.38531	1.155	0.80722	D	1	P;B;B	0.40476	0.718;0.067;0.111	B;B;B	0.41271	0.352;0.011;0.025	T	0.08785	-1.0705	10	0.20519	T	0.43	-21.9424	16.679	0.85287	0.0:1.0:0.0:0.0	.	223;223;223	E9PIH4;Q9UBF8;Q9UBF8-2	.;PI4KB_HUMAN;.	I	223;235;235;223;223;223	ENSP00000357868:M223I;ENSP00000357869:M235I;ENSP00000271657:M235I;ENSP00000357867:M223I;ENSP00000357866:M223I;ENSP00000394719:M223I	ENSP00000271657:M235I	M	-	3	0	PI4KB	149554913	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.567000	0.82357	2.504000	0.84457	0.561000	0.74099	ATG		0.542	PI4KB-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000034400.3	NM_002651		23	34	0	0	0	1	0	23	34					T	151288289	C	T	151288289	3	4	318	1	0	0	0	0	1	0	0	0	11874	710	25	3	1825	3	PI4KB	1	151288289	Missense_Mutation	SNP	C	TCGA-KK-A6E7-01A-11D-A31L-08	40071007	151288289	97962332	4	16303											
TRIM67	440730	broad.mit.edu	37	chr1	231333193	231333193	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtttctggttcagctaaagaAcatattgcagcagatccagg	12	11	10	8	0	2	2	1	0	1	2	3	2	3	2	1	2	4	5	1	2	4	5			TCGA-KK-A6E7-01A-11D-A31L-08	TCGA-KK-A6E7-11A-11D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bde582d-6c64-4529-9771-e7f9df342b04	8a82ccc3-d5f6-4647-9699-604814692936	g.chr1:231333193A>G	ENST00000366653.5	+	2	1121	c.1121A>G	c.(1120-1122)aAc>aGc	p.N374S	TRIM67_ENST00000366652.2_Missense_Mutation_p.N374S|TRIM67_ENST00000444294.3_Missense_Mutation_p.N374S|TRIM67_ENST00000449018.3_Missense_Mutation_p.N312S			Q6ZTA4	TRI67_HUMAN	tripartite motif containing 67	374					negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	zinc ion binding (GO:0008270)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29	Breast(184;0.0871)	all_cancers(173;0.189)|Prostate(94;0.167)				CAGCTAAAGAACATATTGCAG	0.433																																						ENST00000444294.3																			0				breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29						c.(1120-1122)aAc>aGc		tripartite motif containing 67							119	112	114					1																	231333193		1937	4155	6092	SO:0001583	missense	440730					cytoplasm|cytoskeleton	zinc ion binding	g.chr1:231333193A>G	AK126782	CCDS44333.1, CCDS73048.1	1q42.2	2014-02-17	2011-01-25		ENSG00000119283	ENSG00000119283		"Tripartite motif containing / Tripartite motif containing", "Fibronectin type III domain containing", "RING-type (C3HC4) zinc fingers"	31859	protein-coding gene	gene with protein product		610584	"tripartite motif-containing 67"				Standard	NM_001004342		Approved	TNL	uc009xfn.1	Q6ZTA4	OTTHUMG00000037958	ENST00000366653.5:c.1121A>G	1.37:g.231333193A>G	ENSP00000355613:p.Asn374Ser					TRIM67_ENST00000366652.2_Missense_Mutation_p.N374S|TRIM67_ENST00000449018.3_Missense_Mutation_p.N312S|TRIM67_ENST00000366653.5_Missense_Mutation_p.N374S	p.N374S	NM_001004342.3	NP_001004342.3	Q6ZTA4	TRI67_HUMAN			2	1979	+	Breast(184;0.0871)	all_cancers(173;0.189)|Prostate(94;0.167)	374					Q5TER7|Q5TER8|Q7Z4K7	Missense_Mutation	SNP	ENST00000366653.5	37	c.1121A>G	CCDS44333.1	.	.	.	.	.	.	.	.	.	.	A	15.09	2.729545	0.48833	.	.	ENSG00000119283	ENST00000444294;ENST00000366652;ENST00000449018;ENST00000366653	T;T;T;T	0.69306	-0.38;-0.29;-0.32;-0.39	5.64	5.64	0.86602	B-box, C-terminal (1);	0.114714	0.56097	D	0.000029	T	0.59985	0.2234	L	0.51422	1.61	0.49915	D	0.999835	B	0.15141	0.012	B	0.17098	0.017	T	0.56444	-0.7978	10	0.10636	T	0.68	.	15.8637	0.79047	1.0:0.0:0.0:0.0	.	374	Q6ZTA4	TRI67_HUMAN	S	374;374;312;374	ENSP00000412124:N374S;ENSP00000355612:N374S;ENSP00000400163:N312S;ENSP00000355613:N374S	ENSP00000355612:N374S	N	+	2	0	TRIM67	229399816	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.106000	0.77039	2.136000	0.66102	0.533000	0.62120	AAC		0.433	TRIM67-001	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000092649.3	NM_001004342		3	67	0	0	0	1	0	3	67					G	231333193	A	G	231333193	3	3	318	1	0	0	0	0	1	0	0	0	16537	43	2	4	1127	4	TRIM67	1	231333193	Missense_Mutation	SNP	A	TCGA-KK-A6E7-01A-11D-A31L-08	80044904	231333193	17917428	5	16304											
TTN	7273	broad.mit.edu	37	chr2	179554578	179554578	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cctttttctttgcaacaggaAcgggaatcttttcttcaggg	8	15	9	9	1	4	0	1	0	3	0	4	2	4	2	1	3	3	1	1	3	3	6			TCGA-KK-A6E7-01A-11D-A31L-08	TCGA-KK-A6E7-11A-11D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bde582d-6c64-4529-9771-e7f9df342b04	8a82ccc3-d5f6-4647-9699-604814692936	g.chr2:179554578A>G	ENST00000591111.1	-	120	31081	c.30857T>C	c.(30856-30858)gTt>gCt	p.V10286A	TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.V10603A|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.V9359A			Q8WZ42	TITIN_HUMAN	titin	0	Glu-rich.|Pro-rich.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGCAACAGGAACGGGAATCTT	0.378																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(31807-31809)gTt>gCt		titin							178	172	174					2																	179554578		1835	4086	5921	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179554578A>G	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.30857T>C	2.37:g.179554578A>G	ENSP00000465570:p.Val10286Ala					TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.V9359A|TTN_ENST00000591111.1_Missense_Mutation_p.V10286A|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000431752.1_RNA	p.V10603A	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		122	32032	-			10286			Glu-rich.|Pro-rich.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.31808T>C		.	.	.	.	.	.	.	.	.	.	A	12.79	2.044962	0.36085	.	.	ENSG00000155657	ENST00000342992;ENST00000414766;ENST00000473181	T;T	0.66815	-0.23;-0.23	5.53	5.53	0.82687	Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);	.	.	.	.	T	0.59595	0.2205	L	0.60067	1.865	0.80722	D	1	B;P	0.37731	0.002;0.607	B;B	0.33690	0.011;0.168	T	0.65405	-0.6176	9	0.87932	D	0	.	9.3196	0.37955	0.9191:0.0:0.0809:0.0	.	10286;10286	Q8WZ42;Q8WZ42-5	TITIN_HUMAN;.	A	9359;481;113	ENSP00000343764:V9359A;ENSP00000401501:V481A	ENSP00000343764:V9359A	V	-	2	0	TTN	179262823	0.995000	0.38212	1.000000	0.80357	0.964000	0.63967	0.713000	0.25794	2.225000	0.72522	0.533000	0.62120	GTT		0.378	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		13	169	0	0	0	1	0	13	169					G	179554578	A	G	179554578	3	3	318	1	0	0	0	0	1	0	0	0	16732	43	2	4	72685	4	TTN	2	179554578	Missense_Mutation	SNP	A	TCGA-KK-A6E7-01A-11D-A31L-08		179554578	63644795	6	16305											
IDH1	3417	broad.mit.edu	37	chr2	209113113	209113113	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttgatccccataagcatgacGacctatgatgataggtttta	12	13	8	8	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	4	6	rs121913499		TCGA-KK-A6E7-01A-11D-A31L-08	TCGA-KK-A6E7-11A-11D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bde582d-6c64-4529-9771-e7f9df342b04	8a82ccc3-d5f6-4647-9699-604814692936	g.chr2:209113113G>A	ENST00000415913.1	-	4	775	c.394C>T	c.(394-396)Cgt>Tgt	p.R132C	IDH1_ENST00000345146.2_Missense_Mutation_p.R132C|IDH1_ENST00000446179.1_Missense_Mutation_p.R132C	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132C(446)|p.R132G(125)|p.R132S(106)|p.G131_R132>VL(1)|p.R132V(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		TAAGCATGACGACCTATGATG	0.398			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"isocitrate dehydrogenase 1 (NADP+), soluble"			O			gliobastoma		679	Substitution - Missense(678)|Complex - compound substitution(1)	p.R132C(446)|p.R132G(125)|p.R132S(106)|p.G131_R132>VL(1)|p.R132V(1)	haematopoietic_and_lymphoid_tissue(280)|central_nervous_system(181)|bone(177)|biliary_tract(21)|soft_tissue(12)|large_intestine(2)|skin(2)|autonomic_ganglia(1)|endometrium(1)|NS(1)|prostate(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)Cgt>Tgt		isocitrate dehydrogenase 1 (NADP+), soluble							81	74	76					2																	209113113		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113113G>A		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.394C>T	2.37:g.209113113G>A	ENSP00000390265:p.Arg132Cys					IDH1_ENST00000446179.1_Missense_Mutation_p.R132C|IDH1_ENST00000345146.2_Missense_Mutation_p.R132C	p.R132C			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	775	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.394C>T	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	G	24.6	4.550898	0.86127	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.87029	-2.2;-2.2;-2.2;-2.2	5.57	5.57	0.84162	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.94049	0.8093	H	0.99379	4.54	0.80722	D	1	B	0.29862	0.259	B	0.31245	0.126	D	0.94048	0.7315	10	0.87932	D	0	-20.0399	19.5341	0.95242	0.0:0.0:1.0:0.0	.	132	O75874	IDHC_HUMAN	C	132	ENSP00000260985:R132C;ENSP00000410513:R132C;ENSP00000390265:R132C;ENSP00000391075:R132C	ENSP00000260985:R132C	R	-	1	0	IDH1	208821358	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	7.074000	0.76791	2.616000	0.88540	0.555000	0.69702	CGT		0.398	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			15	40	0	0	0	1	0	15	40					A	209113113	G	A	209113113	3	1	318	1	0	0	0	0	1	0	0	0	7494	1058	37	2	878	2	IDH1	2	209113113	Missense_Mutation	SNP	G	TCGA-KK-A6E7-01A-11D-A31L-08	29558535	209113113	34086260	7	16306											
KIF1A	547	broad.mit.edu	37	chr2	241689870	241689870	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gatggcctggacggccacgcGgaggaagcccttcacctcgc	7	5	14	15	4	1	0	1	0	0	0	2	4	1	3	4	5	1	0	4	5	1	1			TCGA-KK-A6E7-01A-11D-A31L-08	TCGA-KK-A6E7-11A-11D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bde582d-6c64-4529-9771-e7f9df342b04	8a82ccc3-d5f6-4647-9699-604814692936	g.chr2:241689870G>A	ENST00000320389.7	-	26	2808	c.2650C>T	c.(2650-2652)Cgc>Tgc	p.R884C	KIF1A_ENST00000498729.2_Missense_Mutation_p.R985C	NM_004321.6	NP_004312.2	Q12756	KIF1A_HUMAN	kinesin family member 1A	884					anterograde axon cargo transport (GO:0008089)|ATP catabolic process (GO:0006200)|cell death (GO:0008219)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|motor activity (GO:0003774)|plus-end-directed microtubule motor activity (GO:0008574)			NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)		ACGGCCACGCGGAGGAAGCCC	0.657																																						ENST00000498729.2																			0				NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66						c.(2953-2955)Cgc>Tgc		kinesin family member 1A							57	65	62					2																	241689870		2168	4270	6438	SO:0001583	missense	547				anterograde axon cargo transport	cytoplasm|microtubule|nucleus	ATP binding|microtubule motor activity	g.chr2:241689870G>A	AF004425	CCDS46561.1, CCDS58757.1	2q37.2	2014-09-17	2004-01-09	2004-01-14	ENSG00000130294	ENSG00000130294		"Kinesins", "Pleckstrin homology (PH) domain containing"	888	protein-coding gene	gene with protein product		601255	"axonal transport of synaptic vesicles", "chromosome 2 open reading frame 20", "spastic paraplegia 30 (autosomal recessive)"	ATSV, C2orf20, SPG30		7539720, 10323250, 22258533	Standard	NM_001244008		Approved	UNC104	uc010fzk.3	Q12756	OTTHUMG00000151940	ENST00000320389.7:c.2650C>T	2.37:g.241689870G>A	ENSP00000322791:p.Arg884Cys					KIF1A_ENST00000320389.7_Missense_Mutation_p.R884C	p.R985C	NM_001244008.1	NP_001230937.1	Q12756	KIF1A_HUMAN		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)	28	3199	-		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)	884					B0I1S5|F5H045|O95068|Q13355|Q14752|Q2NKJ6|Q4LE42|Q53T78|Q59GH1|Q63Z40|Q6P1R9|Q7KZ57	Missense_Mutation	SNP	ENST00000320389.7	37	c.2953C>T	CCDS46561.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.234005	0.79688	.	.	ENSG00000130294	ENST00000320389;ENST00000498729;ENST00000373308;ENST00000404283	T;T;T	0.76839	-1.05;-1.05;-1.05	4.43	4.43	0.53597	.	0.000000	0.85682	U	0.000000	D	0.88811	0.6538	M	0.82823	2.61	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.921;0.997;0.95	D	0.91040	0.4870	10	0.87932	D	0	.	17.0541	0.86529	0.0:0.0:1.0:0.0	.	985;985;884	F5H045;Q12756-2;Q12756	.;.;KIF1A_HUMAN	C	884;985;985;985	ENSP00000322791:R884C;ENSP00000438388:R985C;ENSP00000384231:R985C	ENSP00000322791:R884C	R	-	1	0	KIF1A	241338543	1.000000	0.71417	0.985000	0.45067	0.793000	0.44817	4.852000	0.62904	2.017000	0.59298	0.491000	0.48974	CGC		0.657	KIF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324536.3	NM_138483		9	40	0	0	0	1	0	9	40					A	241689870	G	A	241689870	3	1	318	1	0	0	0	0	1	0	0	0	8283	1116	39	2	2510	2	KIF1A	2	241689870	Missense_Mutation	SNP	G	TCGA-KK-A6E7-01A-11D-A31L-08	32576757	241689870	1509503	8	16307											
MST1	327	broad.mit.edu	37	chr3	49723596	49723596	+	IGR	SNP	G	G	A																															agggcgcctctgagccgtcgGggttccggcagaagttctcc																								rs200900272		TCGA-KK-A6E7-01A-11D-A31L-08	TCGA-KK-A6E7-11A-11D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bde582d-6c64-4529-9771-e7f9df342b04	8a82ccc3-d5f6-4647-9699-604814692936	g.chr3:49723596G>A	ENST00000296456.5	+	0	3220				MST1_ENST00000383728.3_3'UTR|MST1_ENST00000449682.2_Missense_Mutation_p.P349L|MST1_ENST00000494828.2_5'Flank|AC099668.5_ENST00000563780.1_RNA	NM_001640.3	NP_001631.3	P13798	ACPH_HUMAN	acylaminoacyl-peptide hydrolase						beta-amyloid metabolic process (GO:0050435)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear membrane (GO:0031965)	omega peptidase activity (GO:0008242)|poly(A) RNA binding (GO:0044822)|serine-type endopeptidase activity (GO:0004252)	p.P335L(5)		endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|stomach(2)|urinary_tract(1)	15				BRCA - Breast invasive adenocarcinoma(193;4.53e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		TGAGCCGTCGGGGTTCCGGCA	0.667																																						ENST00000449682.2																			5	Substitution - Missense(5)	p.P335L(5)	endometrium(3)|skin(2)	NS(4)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|skin(9)|stomach(1)|urinary_tract(2)	41						c.(1045-1047)cCc>cTc		macrophage stimulating 1 (hepatocyte growth factor-like)							12	16	15					3																	49723596		2189	4280	6469	SO:0001628	intergenic_variant	4485				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr3:49723596G>A	D38441	CCDS2801.1	3p21	2013-05-29	2013-05-29		ENSG00000164062	ENSG00000164062	3.4.19.1		586	protein-coding gene	gene with protein product	"acylaminoacyl-peptidase"	102645	"N-acylaminoacyl-peptide hydrolase"	D3F15S2, DNF15S2, D3S48E		2392324	Standard	NM_001640		Approved		uc003cxf.3	P13798	OTTHUMG00000156882		3.37:g.49723596G>A						MST1_ENST00000383728.3_3'UTR	p.P349L	NM_020998.3	NP_066278.3	P26927	HGFL_HUMAN		BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	9	1407	-			335			Kringle 3.		Q9BQ33|Q9P0Y2	Missense_Mutation	SNP	ENST00000296456.5	37	c.1046C>T	CCDS2801.1	.	.	.	.	.	.	.	.	.	.	G	35	5.499226	0.96355	.	.	ENSG00000173531	ENST00000449682	D	0.83250	-1.7	5.47	5.47	0.80525	.	0.000000	0.42053	D	0.000771	D	0.90256	0.6953	M	0.88450	2.955	0.80722	D	1	P	0.35793	0.521	P	0.46419	0.516	D	0.90879	0.4752	10	0.62326	D	0.03	.	18.9304	0.92563	0.0:0.0:1.0:0.0	.	349	G3XAK1	.	L	349	ENSP00000414287:P349L	ENSP00000414287:P349L	P	-	2	0	MST1	49698600	1.000000	0.71417	0.996000	0.52242	0.942000	0.58702	9.855000	0.99526	2.561000	0.86390	0.655000	0.94253	CCC		0.667	APEH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346415.2			3	42	0	0	0	1	0	3	42					A	49723596	G	A	49723596	1	1	318	0	1	0	0	0	0	0	0	0	9890	1232	43	3		3	MST1	3	49723596	IGR	SNP	G	TCGA-KK-A6E7-01A-11D-A31L-08		49723596	148298834	9	16308	81	2									
MST1	327	broad.mit.edu	37	chr3	49723603	49723603	+	IGR	SNP	G	G	A																															ctctgagccgtcggggttccGgcagaagttctcccgaaggt																								rs199969873	byFrequency	TCGA-KK-A6E7-01A-11D-A31L-08	TCGA-KK-A6E7-11A-11D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bde582d-6c64-4529-9771-e7f9df342b04	8a82ccc3-d5f6-4647-9699-604814692936	g.chr3:49723603G>A	ENST00000296456.5	+	0	3220				MST1_ENST00000383728.3_3'UTR|MST1_ENST00000449682.2_Missense_Mutation_p.R347W|MST1_ENST00000494828.2_5'Flank|AC099668.5_ENST00000563780.1_RNA	NM_001640.3	NP_001631.3	P13798	ACPH_HUMAN	acylaminoacyl-peptide hydrolase						beta-amyloid metabolic process (GO:0050435)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear membrane (GO:0031965)	omega peptidase activity (GO:0008242)|poly(A) RNA binding (GO:0044822)|serine-type endopeptidase activity (GO:0004252)	p.R333W(5)		endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|stomach(2)|urinary_tract(1)	15				BRCA - Breast invasive adenocarcinoma(193;4.53e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		TCGGGGTTCCGGCAGAAGTTC	0.662													G|||	4	0.000798722	8e-04	0	5008	,	,		14102	0.001		0.001	False		,,,				2504	0.001					ENST00000449682.2																			5	Substitution - Missense(5)	p.R333W(5)	endometrium(4)|skin(1)	NS(4)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|skin(9)|stomach(1)|urinary_tract(2)	41						c.(1039-1041)Cgg>Tgg		macrophage stimulating 1 (hepatocyte growth factor-like)																																				SO:0001628	intergenic_variant	4485				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr3:49723603G>A	D38441	CCDS2801.1	3p21	2013-05-29	2013-05-29		ENSG00000164062	ENSG00000164062	3.4.19.1		586	protein-coding gene	gene with protein product	"acylaminoacyl-peptidase"	102645	"N-acylaminoacyl-peptide hydrolase"	D3F15S2, DNF15S2, D3S48E		2392324	Standard	NM_001640		Approved		uc003cxf.3	P13798	OTTHUMG00000156882		3.37:g.49723603G>A						MST1_ENST00000383728.3_3'UTR	p.R347W	NM_020998.3	NP_066278.3	P26927	HGFL_HUMAN		BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	9	1400	-			333			Kringle 3.		Q9BQ33|Q9P0Y2	Missense_Mutation	SNP	ENST00000296456.5	37	c.1039C>T	CCDS2801.1	11	0.005036630036630037	4	0.008130081300813009	3	0.008287292817679558	0	0.0	4	0.005277044854881266	G	28.4	4.921307	0.92249	.	.	ENSG00000173531	ENST00000449682	D	0.93953	-3.32	5.47	2.53	0.30540	.	0.000000	0.38005	N	0.001857	D	0.96321	0.8800	H	0.97186	3.955	0.80722	D	1	D	0.56521	0.976	P	0.60609	0.877	D	0.95291	0.8395	10	0.66056	D	0.02	.	13.6859	0.62515	0.0:0.0:0.4634:0.5366	.	347	G3XAK1	.	W	347	ENSP00000414287:R347W	ENSP00000414287:R347W	R	-	1	2	MST1	49698607	1.000000	0.71417	0.997000	0.53966	0.991000	0.79684	3.194000	0.51005	0.213000	0.20722	0.655000	0.94253	CGG		0.662	APEH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346415.2			3	42	0	0	0	1	0	3	42					A	49723603	G	A	49723603	1	1	318	0	1	0	0	0	0	0	0	0	9890	1115	39	2		2	MST1	3	49723603	IGR	SNP	G	TCGA-KK-A6E7-01A-11D-A31L-08	7	49723603	148298827	10	16309	81	2									
NIPBL	25836	broad.mit.edu	37	chr5	37038775	37038775	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctttgttcttattcagcaaaAtaagaccccagctcatggtt	11	14	6	10	0	3	1	2	0	1	1	3	1	3	1	2	1	2	4	2	1	4	6			TCGA-KK-A6E7-01A-11D-A31L-08	TCGA-KK-A6E7-11A-11D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bde582d-6c64-4529-9771-e7f9df342b04	8a82ccc3-d5f6-4647-9699-604814692936	g.chr5:37038775A>G	ENST00000282516.8	+	34	6542	c.6043A>G	c.(6043-6045)Ata>Gta	p.I2015V	NIPBL_ENST00000448238.2_Missense_Mutation_p.I2015V	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	2015					brain development (GO:0007420)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to X-ray (GO:0071481)|cognition (GO:0050890)|developmental growth (GO:0048589)|ear morphogenesis (GO:0042471)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic forelimb morphogenesis (GO:0035115)|embryonic viscerocranium morphogenesis (GO:0048703)|external genitalia morphogenesis (GO:0035261)|eye morphogenesis (GO:0048592)|face morphogenesis (GO:0060325)|fat cell differentiation (GO:0045444)|forelimb morphogenesis (GO:0035136)|gall bladder development (GO:0061010)|heart morphogenesis (GO:0003007)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|metanephros development (GO:0001656)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid cohesion (GO:0007064)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract morphogenesis (GO:0003151)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of ossification (GO:0045778)|regulation of developmental growth (GO:0048638)|regulation of embryonic development (GO:0045995)|regulation of hair cycle (GO:0042634)|sensory perception of sound (GO:0007605)|stem cell maintenance (GO:0019827)|uterus morphogenesis (GO:0061038)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMC loading complex (GO:0032116)	chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|histone deacetylase binding (GO:0042826)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			ATTCAGCAAAATAAGACCCCA	0.363																																						ENST00000282516.8																			0				autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128						c.(6043-6045)Ata>Gta		Nipped-B homolog (Drosophila)							121	110	114					5																	37038775		2203	4300	6503	SO:0001583	missense	25836				brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding	g.chr5:37038775A>G	AB019494	CCDS3920.1, CCDS47198.1	5p13.2	2009-08-28			ENSG00000164190	ENSG00000164190			28862	protein-coding gene	gene with protein product	"sister chromatid cohesion 2 homolog (yeast)"	608667				15146186, 15146185	Standard	NM_133433		Approved	IDN3, DKFZp434L1319, FLJ11203, FLJ12597, FLJ13354, FLJ13648, Scc2	uc003jkl.4	Q6KC79	OTTHUMG00000090795	ENST00000282516.8:c.6043A>G	5.37:g.37038775A>G	ENSP00000282516:p.Ile2015Val					NIPBL_ENST00000448238.2_Missense_Mutation_p.I2015V	p.I2015V	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)		34	6542	+	all_lung(31;0.000447)|Hepatocellular(1;0.108)		2015					Q6KCD6|Q6N080|Q6ZT92|Q7Z2E6|Q8N4M5|Q9Y6Y3|Q9Y6Y4	Missense_Mutation	SNP	ENST00000282516.8	37	c.6043A>G	CCDS3920.1	.	.	.	.	.	.	.	.	.	.	A	17.37	3.372779	0.61624	.	.	ENSG00000164190	ENST00000282516;ENST00000448238	T;T	0.65916	-0.18;-0.18	4.95	4.95	0.65309	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.60248	0.2254	L	0.33710	1.025	0.58432	D	0.999997	B;P	0.38745	0.244;0.645	B;P	0.48524	0.287;0.58	T	0.55036	-0.8203	10	0.18276	T	0.48	-13.418	14.9013	0.70681	1.0:0.0:0.0:0.0	.	2015;2015	Q6KC79;Q6KC79-2	NIPBL_HUMAN;.	V	2015	ENSP00000282516:I2015V;ENSP00000406266:I2015V	ENSP00000282516:I2015V	I	+	1	0	NIPBL	37074532	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.901000	0.92560	1.970000	0.57323	0.528000	0.53228	ATA		0.363	NIPBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207582.1	NM_015384		11	25	0	0	0	1	0	11	25					G	37038775	A	G	37038775	3	3	318	1	0	0	0	0	1	0	0	0	10428	101	4	4	6173	4	NIPBL	5	37038775	Missense_Mutation	SNP	A	TCGA-KK-A6E7-01A-11D-A31L-08		37038775	143876485	11	16310											
FAT2	2196	broad.mit.edu	37	chr5	150923936	150923936	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ctgtggcttcagaaaatgacCccagagctgtatccgtggct	9	10	11	11	1	1	3	1	1	0	2	2	3	2	3	3	2	1	4	3	2	3	2			TCGA-KK-A6E7-01A-11D-A31L-08	TCGA-KK-A6E7-11A-11D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bde582d-6c64-4529-9771-e7f9df342b04	8a82ccc3-d5f6-4647-9699-604814692936	g.chr5:150923936C>G	ENST00000261800.5	-	9	6764	c.6752G>C	c.(6751-6753)gGg>gCg	p.G2251A		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	2251	Cadherin 19. {ECO:0000255|PROSITE- ProRule:PRU00043}.				epithelial cell migration (GO:0010631)|homophilic cell adhesion (GO:0007156)	cell-cell adherens junction (GO:0005913)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AGAAAATGACCCCAGAGCTGT	0.478																																						ENST00000261800.5																			0				NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196						c.(6751-6753)gGg>gCg		FAT atypical cadherin 2							98	99	99					5																	150923936		2203	4300	6503	SO:0001583	missense	2196				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding	g.chr5:150923936C>G	AF231022	CCDS4317.1	5q33.1	2014-07-21	2013-05-31		ENSG00000086570	ENSG00000086570		"Cadherins / Cadherin-related"	3596	protein-coding gene	gene with protein product	"cadherin-related family member 9"	604269	"FAT tumor suppressor (Drosophila) homolog 2", "FAT tumor suppressor homolog 2 (Drosophila)"			9693030	Standard	NM_001447		Approved	MEGF1, CDHF8, HFAT2, CDHR9	uc003lue.4	Q9NYQ8	OTTHUMG00000130126	ENST00000261800.5:c.6752G>C	5.37:g.150923936C>G	ENSP00000261800:p.Gly2251Ala						p.G2251A	NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		9	6764	-		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	2251			Cadherin 19.		O75091|Q9NSR7	Missense_Mutation	SNP	ENST00000261800.5	37	c.6752G>C	CCDS4317.1	.	.	.	.	.	.	.	.	.	.	C	19.56	3.851197	0.71719	.	.	ENSG00000086570	ENST00000261800	T	0.52295	0.67	5.68	5.68	0.88126	Cadherin (4);Cadherin-like (1);	0.000000	0.64402	D	0.000002	T	0.66877	0.2834	L	0.58101	1.795	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.61816	-0.6985	10	0.35671	T	0.21	.	19.7989	0.96497	0.0:1.0:0.0:0.0	.	2251	Q9NYQ8	FAT2_HUMAN	A	2251	ENSP00000261800:G2251A	ENSP00000261800:G2251A	G	-	2	0	FAT2	150904129	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.747000	0.85070	2.683000	0.91414	0.561000	0.74099	GGG		0.478	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252434.1	NM_001447		13	41	0	0	0	1	0	13	41					G	150923936	C	G	150923936	3	3	318	1	0	0	0	0	1	0	0	0	5690	623	22	5	6357	5	FAT2	5	150923936	Missense_Mutation	SNP	C	TCGA-KK-A6E7-01A-11D-A31L-08	113885161	150923936	29991324	12	16311											
WRNIP1	56897	broad.mit.edu	37	chr6	2770371	2770371	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taggacactttccttcctcaCgtggaatgtgggacgatcac	9	11	10	11	2	2	0	2	0	0	0	4	4	4	3	2	3	0	0	2	3	2	3			TCGA-KK-A6E7-01A-11D-A31L-08	TCGA-KK-A6E7-11A-11D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bde582d-6c64-4529-9771-e7f9df342b04	8a82ccc3-d5f6-4647-9699-604814692936	g.chr6:2770371C>T	ENST00000380773.4	+	3	1241	c.1032C>T	c.(1030-1032)caC>caT	p.H344H	WRNIP1_ENST00000380769.4_Silent_p.H124H|WRNIP1_ENST00000380764.1_5'UTR|WRNIP1_ENST00000380771.4_Intron	NM_020135.2	NP_064520.2			Werner helicase interacting protein 1											breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(2)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	14	Ovarian(93;0.0412)	all_hematologic(90;0.0895)				TCCTTCCTCACGTGGAATGTG	0.488																																						ENST00000380769.4																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(2)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	14						c.(370-372)caC>caT		Werner helicase interacting protein 1							135	114	121					6																	2770371		2203	4300	6503	SO:0001819	synonymous_variant	56897				DNA replication|DNA synthesis involved in DNA repair|regulation of DNA-dependent DNA replication initiation	mitochondrion|nucleus|perinuclear region of cytoplasm	ATP binding|ATPase activity|DNA binding|metal ion binding|protein binding	g.chr6:2770371C>T	AB056152	CCDS4475.1, CCDS4476.1	6p25.2	2010-04-21			ENSG00000124535	ENSG00000124535		"ATPases / AAA-type"	20876	protein-coding gene	gene with protein product		608196				11301316	Standard	NM_020135		Approved	WHIP, FLJ22526, bA420G6.2	uc003mtz.3	Q96S55	OTTHUMG00000014126	ENST00000380773.4:c.1032C>T	6.37:g.2770371C>T						WRNIP1_ENST00000380771.4_Intron|WRNIP1_ENST00000380773.4_Silent_p.H344H|WRNIP1_ENST00000380764.1_5'UTR	p.H124H			Q96S55	WRIP1_HUMAN			3	603	+	Ovarian(93;0.0412)	all_hematologic(90;0.0895)	344						Silent	SNP	ENST00000380773.4	37	c.372C>T	CCDS4475.1																																																																																				0.488	WRNIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039641.1	NM_130395		24	51	0	0	0	1	0	24	51					T	2770371	C	T	2770371	2	4	318	1	0	0	0	0	0	0	0	1	17400	535	19	1		1	WRNIP1	6	2770371	Silent	SNP	C	TCGA-KK-A6E7-01A-11D-A31L-08		2770371	168344696	13	16312											
SPDYE3	441272	broad.mit.edu	37	chr7	99909507	99909507	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agacctgggtggcagagacgCtgtgtggcctcaagatgaag	10	7	16	8	1	1	4	1	1	0	3	1	5	1	4	2	3	0	2	2	3	2	0			TCGA-KK-A6E7-01A-11D-A31L-08	TCGA-KK-A6E7-11A-11D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bde582d-6c64-4529-9771-e7f9df342b04	8a82ccc3-d5f6-4647-9699-604814692936	g.chr7:99909507C>T	ENST00000332397.6	+	4	863	c.679C>T	c.(679-681)Ctg>Ttg	p.L227L	SPDYE3_ENST00000437326.2_5'UTR	NM_001004351.4	NP_001004351.3	A6NKU9	SPDE3_HUMAN	speedy/RINGO cell cycle regulator family member E3	227										endometrium(10)|kidney(1)|lung(8)|urinary_tract(1)	20						GGCAGAGACGCTGTGTGGCCT	0.587																																						ENST00000332397.6																			0				endometrium(10)|kidney(1)|lung(8)|urinary_tract(1)	20						c.(679-681)Ctg>Ttg		speedy/RINGO cell cycle regulator family member E3							29	30	30					7																	99909507		1351	3396	4747	SO:0001819	synonymous_variant	441272							g.chr7:99909507C>T	BC056606	CCDS47658.1, CCDS47658.2	7q22.1	2013-05-08	2013-05-08		ENSG00000214300	ENSG00000214300		"Speedy homologs"	35462	protein-coding gene	gene with protein product			"speedy homolog E3 (Xenopus laevis)"				Standard	NM_001004351		Approved		uc022aij.1	A6NKU9	OTTHUMG00000155462	ENST00000332397.6:c.679C>T	7.37:g.99909507C>T						SPDYE3_ENST00000437326.2_5'UTR	p.L227L	NM_001004351.4	NP_001004351.3	A6NKU9	SPDE3_HUMAN			4	863	+			227					Q495Y9|Q6PHC4	Silent	SNP	ENST00000332397.6	37	c.679C>T	CCDS47658.2																																																																																				0.587	SPDYE3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000340224.2	NM_001004351		40	80	0	0	0	1	0	40	80					T	99909507	C	T	99909507	2	4	318	1	0	0	0	0	0	0	0	1	15029	796	28	3		3	SPDYE3	7	99909507	Silent	SNP	C	TCGA-KK-A6E7-01A-11D-A31L-08		99909507	59229156	14	16313											
AKR1D1	6718	broad.mit.edu	37	chr7	137790074	137790074	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgatggaagcttgcaaagacGctggcttggtgaaatccctg	10	9	13	9	2	0	2	0	1	0	1	1	4	1	3	1	3	2	4	1	3	3	2			TCGA-KK-A6E7-01A-11D-A31L-08	TCGA-KK-A6E7-11A-11D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bde582d-6c64-4529-9771-e7f9df342b04	8a82ccc3-d5f6-4647-9699-604814692936	g.chr7:137790074G>C	ENST00000242375.3	+	5	520	c.478G>C	c.(478-480)Gct>Cct	p.A160P	AKR1D1_ENST00000468877.2_3'UTR|AKR1D1_ENST00000432161.1_Missense_Mutation_p.A160P|AKR1D1_ENST00000411726.2_Intron	NM_005989.3	NP_005980.1	P51857	AK1D1_HUMAN	aldo-keto reductase family 1, member D1	160					androgen metabolic process (GO:0008209)|bile acid biosynthetic process (GO:0006699)|bile acid catabolic process (GO:0030573)|bile acid metabolic process (GO:0008206)|C21-steroid hormone metabolic process (GO:0008207)|cholesterol catabolic process (GO:0006707)|digestion (GO:0007586)|oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	delta4-3-oxosteroid 5beta-reductase activity (GO:0047787)|steroid binding (GO:0005496)			endometrium(1)|kidney(2)|large_intestine(1)|lung(14)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	23					Azelaic Acid(DB00548)|Finasteride(DB01216)	TTGCAAAGACGCTGGCTTGGT	0.478																																						ENST00000242375.3																			0				endometrium(1)|kidney(2)|large_intestine(1)|lung(14)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	23						c.(478-480)Gct>Cct		aldo-keto reductase family 1, member D1							123	131	128					7																	137790074		2203	4300	6503	SO:0001583	missense	6718				androgen metabolic process|bile acid biosynthetic process|bile acid catabolic process|C21-steroid hormone metabolic process|cholesterol catabolic process|digestion	cytosol	aldo-keto reductase (NADP) activity|delta4-3-oxosteroid 5beta-reductase activity|steroid binding	g.chr7:137790074G>C	Z28339	CCDS5846.1, CCDS55169.1, CCDS55170.1	7q32-q33	2012-12-04	2012-12-04		ENSG00000122787	ENSG00000122787	1.3.99.6	"Aldo-keto reductases"	388	protein-coding gene	gene with protein product	"delta 4-3-ketosteroid-5-beta-reductase"	604741	"aldo-keto reductase family 1, member D1 (delta 4-3-ketosteroid-5-beta-reductase)"	SRD5B1		7508385, 10343119	Standard	NM_005989		Approved		uc003vtz.3	P51857	OTTHUMG00000155787	ENST00000242375.3:c.478G>C	7.37:g.137790074G>C	ENSP00000242375:p.Ala160Pro					AKR1D1_ENST00000468877.2_3'UTR|AKR1D1_ENST00000432161.1_Missense_Mutation_p.A160P|AKR1D1_ENST00000411726.2_Intron	p.A160P	NM_005989.3	NP_005980.1	P51857	AK1D1_HUMAN			5	520	+			160					A1L4P6|A8K060|B4DPN3|B4DPN8	Missense_Mutation	SNP	ENST00000242375.3	37	c.478G>C	CCDS5846.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.298214	0.81025	.	.	ENSG00000122787	ENST00000297463;ENST00000432161;ENST00000242375	T;T	0.26373	1.74;1.74	4.71	3.82	0.43975	Aldo/keto reductase, conserved site (1);NADP-dependent oxidoreductase domain (3);	0.108239	0.64402	D	0.000008	T	0.52773	0.1755	M	0.88775	2.98	0.51767	D	0.999932	D;D	0.76494	0.996;0.999	D;D	0.71870	0.932;0.975	T	0.59316	-0.7477	10	0.72032	D	0.01	.	10.6276	0.45516	0.0959:0.0:0.9041:0.0	.	160;160	B4DPN3;P51857	.;AK1D1_HUMAN	P	38;160;160	ENSP00000389197:A160P;ENSP00000242375:A160P	ENSP00000242375:A160P	A	+	1	0	AKR1D1	137440614	1.000000	0.71417	0.999000	0.59377	0.993000	0.82548	7.076000	0.76806	2.613000	0.88420	0.591000	0.81541	GCT		0.478	AKR1D1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341637.1	NM_005989		61	113	0	0	0	1	0	61	113					C	137790074	G	C	137790074	3	2	318	1	0	0	0	0	1	0	0	0	473	1087	38	5	496	5	AKR1D1	7	137790074	Missense_Mutation	SNP	G	TCGA-KK-A6E7-01A-11D-A31L-08	37880567	137790074	21348589	15	16314											
FLJ43860	389690	broad.mit.edu	37	chr8	142505558	142505558	+	RNA	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaggggtcagcactgttcatGtcctgcagcatcttgaagcc	9	10	11	11	0	3	1	2	1	1	0	4	1	4	1	2	2	4	4	2	2	2	2			TCGA-KK-A6E7-01A-11D-A31L-08	TCGA-KK-A6E7-11A-11D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bde582d-6c64-4529-9771-e7f9df342b04	8a82ccc3-d5f6-4647-9699-604814692936	g.chr8:142505558G>T	ENST00000430863.1	-	0	368					NM_207414.2	NP_997297.2	Q6ZUA9	MROH5_HUMAN	maestro heat-like repeat family member 5																		CACTGTTCATGTCCTGCAGCA	0.537																																						ENST00000430863.1																			0													maestro heat-like repeat family member 5							120	119	120					8																	142505558		2158	4263	6421			389690							g.chr8:142505558G>T			8q24.3	2012-12-20			ENSG00000226807	ENSG00000226807		"maestro heat-like repeat containing"	42976	protein-coding gene	gene with protein product							Standard	NM_207414		Approved	FLJ43860	uc003ywi.2	Q6ZUA9	OTTHUMG00000155944		8.37:g.142505558G>T								NM_207414.2	NP_997297.2					0	368	-									RNA	SNP	ENST00000430863.1	37			.	.	.	.	.	.	.	.	.	.	G	3.171	-0.170023	0.06461	.	.	ENSG00000226807	ENST00000521161	.	.	.	4.56	1.41	0.22369	.	.	.	.	.	T	0.21186	0.0510	N	0.24115	0.695	.	.	.	P	0.46142	0.873	B	0.43508	0.422	T	0.14337	-1.0476	7	0.22109	T	0.4	.	3.2238	0.06725	0.104:0.1717:0.5486:0.1757	.	96	Q6ZUA9	.	E	61	.	ENSP00000431031:D96E	D	-	3	2	AC100803.1	142574740	0.184000	0.23200	0.931000	0.37212	0.042000	0.13812	0.118000	0.15605	0.408000	0.25621	0.462000	0.41574	GAC		0.537	MROH5-001	KNOWN	non_canonical_polymorphism|basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000342412.4	NM_207414		21	43	1	0	4.54149e-19	1	5.10917e-19	21	43					T	142505558	G	T	142505558	1	4	318	0	1	0	0	0	0	0	0	0	5930	1368	48	5		5	FLJ43860	8	142505558	RNA	SNP	G	TCGA-KK-A6E7-01A-11D-A31L-08		142505558	3858464	16	16315											
KIAA2026	158358	broad.mit.edu	37	chr9	5920338	5920338	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttaatcataatctgagtaccAggtgccaaaggtgtactggt	12	12	10	7	0	2	1	1	1	1	0	2	1	2	1	2	3	3	2	2	3	5	4			TCGA-KK-A6E7-01A-11D-A31L-08	TCGA-KK-A6E7-11A-11D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bde582d-6c64-4529-9771-e7f9df342b04	8a82ccc3-d5f6-4647-9699-604814692936	g.chr9:5920338A>T	ENST00000399933.3	-	8	5657	c.5658T>A	c.(5656-5658)ccT>ccA	p.P1886P	KIAA2026_ENST00000381461.2_Silent_p.P1856P	NM_001017969.2	NP_001017969.2	Q5HYC2	K2026_HUMAN	KIAA2026	1886										breast(6)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(1)	46		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124)		TCTGAGTACCAGGTGCCAAAG	0.428																																						ENST00000399933.3																			0				breast(6)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(1)	46						c.(5656-5658)ccT>ccA		KIAA2026							162	161	161					9																	5920338		1933	4142	6075	SO:0001819	synonymous_variant	158358							g.chr9:5920338A>T	AB095946		9p24.1	2014-01-10			ENSG00000183354	ENSG00000183354			23378	protein-coding gene	gene with protein product							Standard	NM_001017969		Approved	FLJ20375	uc003zjq.4	Q5HYC2	OTTHUMG00000019507	ENST00000399933.3:c.5658T>A	9.37:g.5920338A>T						KIAA2026_ENST00000381461.2_Silent_p.P1856P	p.P1886P	NM_001017969.2	NP_001017969.2	Q5HYC2	K2026_HUMAN		GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124)	8	5657	-		Acute lymphoblastic leukemia(23;0.158)	1886					A8MTP2|B9EGW7|Q4VXA2|Q8IVE5	Silent	SNP	ENST00000399933.3	37	c.5658T>A																																																																																					0.428	KIAA2026-002	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000051652.2	NM_001017969		4	185	0	0	0	1	0	4	185					T	5920338	A	T	5920338	2	4	318	1	0	0	0	0	0	0	0	1	8270	175	7	5		5	KIAA2026	9	5920338	Silent	SNP	A	TCGA-KK-A6E7-01A-11D-A31L-08		5920338	135293093	17	16316											
PTEN	5728	broad.mit.edu	37	chr10	89717715	89717716	+	Frame_Shift_Ins	INS	-	-	A																															tttgagttccctcagccgttINSacctgtgtgtggtgatatca																								rs587782341		TCGA-KK-A6E7-01A-11D-A31L-08	TCGA-KK-A6E7-11A-11D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bde582d-6c64-4529-9771-e7f9df342b04	8a82ccc3-d5f6-4647-9699-604814692936	g.chr10:89717715_89717716insA	ENST00000371953.3	+	7	2097_2098	c.740_741insA	c.(739-744)ttacctfs	p.P248fs	PTEN_ENST00000472832.1_3'UTR	NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	248	C2 tensin-type. {ECO:0000255|PROSITE- ProRule:PRU00589}.				activation of mitotic anaphase-promoting complex activity (GO:0007092)|aging (GO:0007568)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|brain morphogenesis (GO:0048854)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle tissue development (GO:0048738)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|central nervous system myelin maintenance (GO:0032286)|central nervous system neuron axonogenesis (GO:0021955)|dendritic spine morphogenesis (GO:0060997)|dentate gyrus development (GO:0021542)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|innate immune response (GO:0045087)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|learning or memory (GO:0007611)|locomotor rhythm (GO:0045475)|locomotory behavior (GO:0007626)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|male mating behavior (GO:0060179)|maternal behavior (GO:0042711)|memory (GO:0007613)|multicellular organismal response to stress (GO:0033555)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell aging (GO:0090344)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031658)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myelination (GO:0031642)|negative regulation of organ growth (GO:0046621)|negative regulation of phagocytosis (GO:0050765)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of ribosome biogenesis (GO:0090071)|negative regulation of synaptic vesicle clustering (GO:2000808)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell proliferation (GO:0008284)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|postsynaptic density assembly (GO:0097107)|prepulse inhibition (GO:0060134)|presynaptic membrane assembly (GO:0097105)|prostate gland growth (GO:0060736)|protein dephosphorylation (GO:0006470)|protein kinase B signaling (GO:0043491)|protein stabilization (GO:0050821)|regulation of B cell apoptotic process (GO:0002902)|regulation of cellular component size (GO:0032535)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of neuron projection development (GO:0010975)|regulation of protein stability (GO:0031647)|response to arsenic-containing substance (GO:0046685)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse maturation (GO:0060074)|T cell receptor signaling pathway (GO:0050852)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|myelin sheath adaxonal region (GO:0035749)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)	anaphase-promoting complex binding (GO:0010997)|enzyme binding (GO:0019899)|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity (GO:0051717)|lipid binding (GO:0008289)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity (GO:0051800)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.0?(37)|p.P248fs*5(13)|p.R55fs*1(5)|p.N212fs*1(2)|p.Y27fs*1(2)|p.L247*(2)|p.G165_*404del(1)|p.L247fs*6(1)|p.?(1)|p.L247fs*5(1)|p.L247fs*4(1)|p.L247F(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		CCTCAGCCGTTACCTGTGTGTG	0.406		31	"D, Mis, N, F, S"		"glioma,  prostate, endometrial"	"harmartoma, glioma,  prostate, endometrial"			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																												ENST00000371953.3		31	yes	Rec	yes	"Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"	10	10q23.3	5728	"D, Mis, N, F, S"	phosphatase and tensin homolog gene			"L, E, M, O"		"harmartoma, glioma,  prostate, endometrial"	"glioma,  prostate, endometrial"		67	Whole gene deletion(37)|Insertion - Frameshift(14)|Deletion - Frameshift(11)|Substitution - Nonsense(2)|Deletion - In frame(1)|Unknown(1)|Substitution - Missense(1)	p.0?(37)|p.P248fs*5(13)|p.R55fs*1(5)|p.N212fs*1(2)|p.Y27fs*1(2)|p.L247*(2)|p.G165_*404del(1)|p.L247fs*6(1)|p.?(1)|p.L247fs*5(1)|p.L247fs*4(1)|p.L247F(1)	central_nervous_system(16)|prostate(16)|skin(7)|endometrium(6)|haematopoietic_and_lymphoid_tissue(5)|lung(5)|ovary(5)|breast(4)|urinary_tract(2)|soft_tissue(1)	NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771	GRCh37	CI043805	PTEN	I		c.(739-741)tccfs		phosphatase and tensin homolog																																				SO:0001589	frameshift_variant	5728	Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	Familial Cancer Database	Incl.: Encephalocraniocutaneous Lipomatosis, ECCL, Proteus-like s.;incl.: Juvenile Polyposis of the Stomach;HMPS1, Colorectal Adenoma Carcinoma syndrome, CRAC, CRAC1;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;subset of PTEN-Hamartoma Tumor Syndrome; incl.: Ruvalcaba-Myhre-Smith s.	activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr10:89717715_89717716insA	U92436	CCDS31238.1	10q23	2014-09-17	2008-07-31		ENSG00000171862	ENSG00000171862		"Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"	9588	protein-coding gene	gene with protein product	"mutated in multiple advanced cancers 1"	601728		BZS, MHAM		9090379	Standard	NM_000314		Approved	MMAC1, TEP1, PTEN1	uc001kfb.3	P60484	OTTHUMG00000018688	ENST00000371953.3:c.741dupA	10.37:g.89717716_89717716dupA	ENSP00000361021:p.Pro248fs	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)				PTEN_ENST00000472832.1_3'UTR	p.S247fs	NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)	7	2097_2098	+		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	247			C2 tensin-type.		B2R904|F2YHV0|O00633|O02679|Q6ICT7	Frame_Shift_Ins	INS	ENST00000371953.3	37	c.740_741insA	CCDS31238.1																																																																																				0.406	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1	NM_000314		16	14						16	14	---	---	---	---	A	89717716	-	A	89717715	7	5	318	1	0	1	1	0	0	0	0	0	12738	1764	61	0	766	0	PTEN	10	89717715	Frame_Shift_Ins	INS	-	TCGA-KK-A6E7-01A-11D-A31L-08		89717715	45817032	18	16317											
CPEB3	22849	broad.mit.edu	37	chr10	93999747	93999747	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	gatcccctggaagaagctgtCctctaccgcgttggtggtgc	6	10	13	12	2	1	1	0	0	1	1	3	3	3	2	4	3	3	2	4	3	3	2			TCGA-KK-A6E7-01A-11D-A31L-08	TCGA-KK-A6E7-11A-11D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bde582d-6c64-4529-9771-e7f9df342b04	8a82ccc3-d5f6-4647-9699-604814692936	g.chr10:93999747C>G	ENST00000265997.4	-	2	533	c.361G>C	c.(361-363)Gac>Cac	p.D121H	CPEB3_ENST00000412050.4_Missense_Mutation_p.D121H	NM_014912.4	NP_055727.3	Q8NE35	CPEB3_HUMAN	cytoplasmic polyadenylation element binding protein 3	121	Pro-rich.				3'-UTR-mediated mRNA destabilization (GO:0061158)|cellular response to amino acid stimulus (GO:0071230)|long-term memory (GO:0007616)|negative regulation of cytoplasmic translational elongation (GO:1900248)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of translation (GO:0017148)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of mRNA polyadenylation (GO:1900365)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|positive regulation of translation (GO:0045727)|regulation of dendritic spine development (GO:0060998)|regulation of synaptic plasticity (GO:0048167)|translation (GO:0006412)	apical dendrite (GO:0097440)|CCR4-NOT complex (GO:0030014)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|neuron projection (GO:0043005)|nucleus (GO:0005634)|synapse (GO:0045202)	mRNA 3'-UTR AU-rich region binding (GO:0035925)|mRNA 3'-UTR binding (GO:0003730)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|RNA stem-loop binding (GO:0035613)|translation factor activity, nucleic acid binding (GO:0008135)|translation repressor activity, nucleic acid binding (GO:0000900)			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(5)|skin(2)|upper_aerodigestive_tract(2)	18		Colorectal(252;0.0869)				AAGAAGCTGTCCTCTACCGCG	0.667																																						ENST00000412050.4																			0				breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(5)|skin(2)|upper_aerodigestive_tract(2)	18						c.(361-363)Gac>Cac		cytoplasmic polyadenylation element binding protein 3							52	46	48					10																	93999747		2203	4300	6503	SO:0001583	missense	22849						nucleotide binding|RNA binding	g.chr10:93999747C>G	AB023157	CCDS31246.1, CCDS53553.1	10q23.33	2013-02-12			ENSG00000107864	ENSG00000107864		"RNA binding motif (RRM) containing"	21746	protein-coding gene	gene with protein product		610606				10231032, 12672660	Standard	NM_014912		Approved	KIAA0940	uc001khw.2	Q8NE35	OTTHUMG00000018756	ENST00000265997.4:c.361G>C	10.37:g.93999747C>G	ENSP00000265997:p.Asp121His					CPEB3_ENST00000265997.4_Missense_Mutation_p.D121H	p.D121H	NM_001178137.1	NP_001171608.1	Q8NE35	CPEB3_HUMAN			2	449	-		Colorectal(252;0.0869)	121			Pro-rich.		Q5T389|Q9NQJ7|Q9Y2E9	Missense_Mutation	SNP	ENST00000265997.4	37	c.361G>C	CCDS31246.1	.	.	.	.	.	.	.	.	.	.	C	18.10	3.549181	0.65311	.	.	ENSG00000107864	ENST00000394210;ENST00000412050;ENST00000265997	T;T	0.55760	0.5;0.5	3.85	3.85	0.44370	.	0.052876	0.64402	D	0.000001	T	0.49966	0.1588	N	0.19112	0.55	0.58432	D	0.999999	D;D;D	0.58268	0.969;0.969;0.982	P;P;P	0.52881	0.519;0.519;0.712	T	0.58440	-0.7636	10	0.62326	D	0.03	-10.3772	15.9832	0.80127	0.0:1.0:0.0:0.0	.	121;121;121	Q8NE35;Q5QP71;Q8NE35-2	CPEB3_HUMAN;.;.	H	121	ENSP00000398310:D121H;ENSP00000265997:D121H	ENSP00000265997:D121H	D	-	1	0	CPEB3	93989727	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.468000	0.80943	1.991000	0.58162	0.491000	0.48974	GAC		0.667	CPEB3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049387.2	NM_014912		5	7	0	0	0	1	0	5	7					G	93999747	C	G	93999747	3	3	318	1	0	0	0	0	1	0	0	0	3802	855	30	5	1798	5	CPEB3	10	93999747	Missense_Mutation	SNP	C	TCGA-KK-A6E7-01A-11D-A31L-08	4282032	93999747	41535000	19	16318											
OR9Q1	219956	broad.mit.edu	37	chr11	57947006	57947006	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcactccctctcttcctcttGtttttatttatgtatctcat	5	21	3	12	0	3	0	1	0	3	0	7	0	5	0	2	0	0	3	2	0	3	8			TCGA-KK-A6E7-01A-11D-A31L-08	TCGA-KK-A6E7-11A-11D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bde582d-6c64-4529-9771-e7f9df342b04	8a82ccc3-d5f6-4647-9699-604814692936	g.chr11:57947006G>T	ENST00000335397.3	+	3	406	c.90G>T	c.(88-90)ttG>ttT	p.L30F		NM_001005212.3	NP_001005212.1	Q8NGQ5	OR9Q1_HUMAN	olfactory receptor, family 9, subfamily Q, member 1	30						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Breast(21;0.222)				TCTTCCTCTTGTTTTTATTTA	0.448																																						ENST00000335397.3																			0				cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26						c.(88-90)ttG>ttT		olfactory receptor, family 9, subfamily Q, member 1							211	199	203					11																	57947006		2201	4296	6497	SO:0001583	missense	219956				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:57947006G>T	AB065734	CCDS31543.1	11q12.1	2012-08-09				ENSG00000186509		"GPCR / Class A : Olfactory receptors"	14724	protein-coding gene	gene with protein product							Standard	NM_001005212		Approved		uc001nmj.3	Q8NGQ5		ENST00000335397.3:c.90G>T	11.37:g.57947006G>T	ENSP00000334934:p.Leu30Phe						p.L30F	NM_001005212.3	NP_001005212.1	Q8NGQ5	OR9Q1_HUMAN			3	406	+		Breast(21;0.222)	30					Q2TAN3|Q96RA7	Missense_Mutation	SNP	ENST00000335397.3	37	c.90G>T	CCDS31543.1	.	.	.	.	.	.	.	.	.	.	G	6.571	0.473595	0.12521	.	.	ENSG00000186509	ENST00000335397	T	0.17213	2.29	4.75	-2.31	0.06765	.	0.194163	0.25408	N	0.030889	T	0.10337	0.0253	L	0.28014	0.82	0.21915	N	0.999479	B	0.16396	0.017	B	0.14023	0.01	T	0.18967	-1.0320	10	0.62326	D	0.03	-8.4777	9.694	0.40145	0.2146:0.5751:0.2103:0.0	.	30	Q8NGQ5	OR9Q1_HUMAN	F	30	ENSP00000334934:L30F	ENSP00000334934:L30F	L	+	3	2	OR9Q1	57703582	0.000000	0.05858	0.169000	0.22859	0.375000	0.29983	-3.872000	0.00345	-0.515000	0.06479	-0.300000	0.09419	TTG		0.448	OR9Q1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394538.2	NM_001005212		4	144	1	0	0.000602214	1	0.000613577	4	144					T	57947006	G	T	57947006	3	4	318	1	0	0	0	0	1	0	0	0	11255	1368	48	5	92	5	OR9Q1	11	57947006	Missense_Mutation	SNP	G	TCGA-KK-A6E7-01A-11D-A31L-08		57947006	77059510	20	16319											
ATG2A	23130	broad.mit.edu	37	chr11	64669827	64669827	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggccgtctccactggggggCacgagggcagagaggcagga	8	3	20	10	2	1	1	0	0	1	1	2	4	1	2	2	7	0	3	2	7	0	0			TCGA-KK-A6E7-01A-11D-A31L-08	TCGA-KK-A6E7-11A-11D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bde582d-6c64-4529-9771-e7f9df342b04	8a82ccc3-d5f6-4647-9699-604814692936	g.chr11:64669827C>T	ENST00000377264.3	-	28	3921	c.3809G>A	c.(3808-3810)tGc>tAc	p.C1270Y	ATG2A_ENST00000421419.2_Missense_Mutation_p.C1272Y	NM_015104.2	NP_055919.2	Q2TAZ0	ATG2A_HUMAN	autophagy related 2A	1270					autophagic vacuole assembly (GO:0000045)|cellular response to nitrogen starvation (GO:0006995)|mitochondrion degradation (GO:0000422)|nucleophagy (GO:0044804)	extrinsic component of membrane (GO:0019898)|lipid particle (GO:0005811)|pre-autophagosomal structure (GO:0000407)				breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(19)|ovary(3)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	55						CACTGGGGGGCACGAGGGCAG	0.687																																						ENST00000421419.2																			0				breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(19)|ovary(3)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	55						c.(3814-3816)tGc>tAc		autophagy related 2A							19	20	19					11																	64669827		2189	4293	6482	SO:0001583	missense	23130						protein binding	g.chr11:64669827C>T		CCDS31602.1	11q13.1	2014-02-12	2012-06-06		ENSG00000110046	ENSG00000110046			29028	protein-coding gene	gene with protein product			"ATG2 autophagy related 2 homolog A (S. cerevisiae)"			21887408	Standard	NM_015104		Approved	KIAA0404	uc001obx.3	Q2TAZ0	OTTHUMG00000066831	ENST00000377264.3:c.3809G>A	11.37:g.64669827C>T	ENSP00000366475:p.Cys1270Tyr					ATG2A_ENST00000377264.3_Missense_Mutation_p.C1270Y	p.C1272Y			Q2TAZ0	ATG2A_HUMAN			28	3929	-			1270					O43154|Q14DM2|Q6ZTV2|Q7Z6K8|Q8IVY5|Q8TAI8|Q96HH7	Missense_Mutation	SNP	ENST00000377264.3	37	c.3815G>A	CCDS31602.1	.	.	.	.	.	.	.	.	.	.	C	1.327	-0.597831	0.03771	.	.	ENSG00000110046	ENST00000421419;ENST00000377264	T;T	0.06849	3.25;3.25	3.62	3.62	0.41486	.	0.000000	0.85682	D	0.000000	T	0.18841	0.0452	L	0.51422	1.61	0.58432	D	0.99999	D;D	0.89917	0.998;1.0	D;D	0.87578	0.986;0.998	T	0.02813	-1.1107	10	0.20519	T	0.43	.	10.9939	0.47565	0.0:1.0:0.0:0.0	.	1270;1272	Q2TAZ0;Q2TAZ0-3	ATG2A_HUMAN;.	Y	1272;1270	ENSP00000410522:C1272Y;ENSP00000366475:C1270Y	ENSP00000366475:C1270Y	C	-	2	0	ATG2A	64426403	1.000000	0.71417	0.372000	0.25991	0.053000	0.15095	4.648000	0.61425	2.039000	0.60335	0.462000	0.41574	TGC		0.687	ATG2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000143224.1	NM_015104		9	10	0	0	0	1	0	9	10					T	64669827	C	T	64669827	3	4	318	1	0	0	0	0	1	0	0	0	1093	710	25	3	2063	3	ATG2A	11	64669827	Missense_Mutation	SNP	C	TCGA-KK-A6E7-01A-11D-A31L-08	6722821	64669827	70336689	21	16320											
LRRIQ1	84125	broad.mit.edu	37	chr12	85450803	85450803	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	attgaagaaaggagactagcCtggataaaatcatttaaacc	18	9	8	6	0	1	3	1	1	0	2	1	5	1	4	2	2	2	0	2	2	7	5			TCGA-KK-A6E7-01A-11D-A31L-08	TCGA-KK-A6E7-11A-11D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bde582d-6c64-4529-9771-e7f9df342b04	8a82ccc3-d5f6-4647-9699-604814692936	g.chr12:85450803C>T	ENST00000393217.2	+	8	2293	c.2232C>T	c.(2230-2232)gcC>gcT	p.A744A		NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	744										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		GGAGACTAGCCTGGATAAAAT	0.368																																						ENST00000393217.2																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83						c.(2230-2232)gcC>gcT		leucine-rich repeats and IQ motif containing 1							182	204	197					12																	85450803		2202	4299	6501	SO:0001819	synonymous_variant	84125							g.chr12:85450803C>T	AK022365	CCDS41816.1	12q21	2008-02-05			ENSG00000133640	ENSG00000133640			25708	protein-coding gene	gene with protein product						11347906	Standard	NM_001079910		Approved	FLJ12303, KIAA1801	uc001tac.3	Q96JM4	OTTHUMG00000166185	ENST00000393217.2:c.2232C>T	12.37:g.85450803C>T							p.A744A	NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN		GBM - Glioblastoma multiforme(134;0.212)	8	2293	+			744					Q567P4|Q9BS17|Q9HA36	Silent	SNP	ENST00000393217.2	37	c.2232C>T	CCDS41816.1																																																																																				0.368	LRRIQ1-004	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388249.2	NM_032165		101	225	0	0	0	1	0	101	225					T	85450803	C	T	85450803	2	4	318	1	0	0	0	0	0	0	0	1	9029	668	24	3		3	LRRIQ1	12	85450803	Silent	SNP	C	TCGA-KK-A6E7-01A-11D-A31L-08		85450803	48401092	22	16321											
PARP4	143	broad.mit.edu	37	chr13	25044068	25044068	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttcccattgatgaaggcttcGaagccacacacagcggcctt	10	9	9	13	2	0	2	0	2	0	0	2	3	1	2	3	2	2	1	3	2	2	4			TCGA-KK-A6E7-01A-11D-A31L-08	TCGA-KK-A6E7-11A-11D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bde582d-6c64-4529-9771-e7f9df342b04	8a82ccc3-d5f6-4647-9699-604814692936	g.chr13:25044068G>A	ENST00000381989.3	-	16	2115	c.2010C>T	c.(2008-2010)ttC>ttT	p.F670F		NM_006437.3	NP_006428.2	Q9UKK3	PARP4_HUMAN	poly (ADP-ribose) polymerase family, member 4	670	VIT. {ECO:0000255|PROSITE- ProRule:PRU00801}.				cell death (GO:0008219)|cellular protein modification process (GO:0006464)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|inflammatory response (GO:0006954)|protein ADP-ribosylation (GO:0006471)|response to drug (GO:0042493)|transport (GO:0006810)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|spindle microtubule (GO:0005876)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|NAD+ ADP-ribosyltransferase activity (GO:0003950)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(18)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63		all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052)		all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195)		TGAAGGCTTCGAAGCCACACA	0.458																																						ENST00000381989.3																			0				autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(18)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63						c.(2008-2010)ttC>ttT		poly (ADP-ribose) polymerase family, member 4							90	69	76					13																	25044068		2203	4300	6503	SO:0001819	synonymous_variant	143				cell death|DNA repair|inflammatory response|protein ADP-ribosylation|response to drug|transport	cytoplasm|nucleus|ribonucleoprotein complex|spindle microtubule	DNA binding|enzyme binding|NAD+ ADP-ribosyltransferase activity	g.chr13:25044068G>A	AF057160	CCDS9307.1	13q11	2010-09-29	2004-08-20	2004-08-26	ENSG00000102699	ENSG00000102699		"Poly (ADP-ribose) polymerases"	271	protein-coding gene	gene with protein product	"von Willebrand factor A domain containing 5C"	607519	"ADP-ribosyltransferase (NAD+; poly (ADP-ribose) polymerase)-like 1"	ADPRTL1		10644454	Standard	NM_006437		Approved	VAULT3, p193, VPARP, VWA5C	uc001upl.3	Q9UKK3	OTTHUMG00000016582	ENST00000381989.3:c.2010C>T	13.37:g.25044068G>A							p.F670F	NM_006437.3	NP_006428.2	Q9UKK3	PARP4_HUMAN		all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195)	16	2115	-		all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052)	670			VIT.		O75903|Q14682|Q5QNZ9|Q9H1M6	Silent	SNP	ENST00000381989.3	37	c.2010C>T	CCDS9307.1																																																																																				0.458	PARP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044189.1	NM_006437		3	19	0	0	0	1	0	3	19					A	25044068	G	A	25044068	2	1	318	1	0	0	0	0	0	0	0	1	11463	1049	37	2		2	PARP4	13	25044068	Silent	SNP	G	TCGA-KK-A6E7-01A-11D-A31L-08		25044068	90125810	23	16322											
SSTR5	6755	broad.mit.edu	37	chr16	1129911	1129911	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagcagcaggaggccacgcCacccgcgcaccgcgccgcag	8	0	14	19	6	0	0	0	0	0	0	0	1	0	1	5	2	2	5	5	2	0	0			TCGA-KK-A6E7-01A-11D-A31L-08	TCGA-KK-A6E7-11A-11D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bde582d-6c64-4529-9771-e7f9df342b04	8a82ccc3-d5f6-4647-9699-604814692936	g.chr16:1129911C>T	ENST00000293897.4	+	1	1131	c.1043C>T	c.(1042-1044)cCa>cTa	p.P348L	SSTR5_ENST00000562758.1_Intron|SSTR5_ENST00000397547.2_Missense_Mutation_p.P348L|SSTR5-AS1_ENST00000569832.1_RNA	NM_001053.3	NP_001044.1	P35346	SSR5_HUMAN	somatostatin receptor 5	348				PPAHR -> RPRT (in Ref. 1; AAA20828). {ECO:0000305}.	G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|glucose homeostasis (GO:0042593)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cytokinesis (GO:0032467)|regulation of insulin secretion (GO:0050796)|somatostatin signaling pathway (GO:0038170)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	somatostatin receptor activity (GO:0004994)			endometrium(2)|lung(5)|prostate(1)|skin(1)	9		Hepatocellular(780;0.00369)			Octreotide(DB00104)|Pasireotide(DB06663)|Vapreotide(DB04894)	GAGGCCACGCCACCCGCGCAC	0.701																																						ENST00000293897.4																			0				endometrium(2)|lung(5)|prostate(1)|skin(1)	9						c.(1042-1044)cCa>cTa		somatostatin receptor 5	Octreotide(DB00104)						18	18	18					16																	1129911		2166	4277	6443	SO:0001583	missense	0				negative regulation of cell proliferation	integral to plasma membrane	somatostatin receptor activity	g.chr16:1129911C>T	D16827	CCDS10429.1	16p13.3	2012-08-08			ENSG00000162009	ENSG00000162009		"GPCR / Class A : Somatostatin receptors"	11334	protein-coding gene	gene with protein product		182455				7607700	Standard	NM_001053		Approved		uc021taf.1	P35346	OTTHUMG00000047842	ENST00000293897.4:c.1043C>T	16.37:g.1129911C>T	ENSP00000293897:p.Pro348Leu					SSTR5_ENST00000562758.1_Intron|SSTR5_ENST00000397547.2_Missense_Mutation_p.P348L	p.P348L	NM_001053.3	NP_001044.1	P35346	SSR5_HUMAN			1	1131	+		Hepatocellular(780;0.00369)	348	PPAHR -> RPRT (in Ref. 1; AAA20828).				P34988|Q541E0|Q9UJI5	Missense_Mutation	SNP	ENST00000293897.4	37	c.1043C>T	CCDS10429.1	.	.	.	.	.	.	.	.	.	.	C	3.800	-0.041889	0.07452	.	.	ENSG00000162009	ENST00000397547;ENST00000293897	T;T	0.71103	-0.54;-0.54	4.76	-0.213	0.13165	.	0.628011	0.14943	N	0.289394	T	0.53206	0.1782	L	0.39397	1.21	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.31251	-0.9950	10	0.24483	T	0.36	.	4.5675	0.12193	0.1369:0.2089:0.0:0.6543	.	348	P35346	SSR5_HUMAN	L	348	ENSP00000380680:P348L;ENSP00000293897:P348L	ENSP00000293897:P348L	P	+	2	0	SSTR5	1069912	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.253000	0.18296	-0.356000	0.08187	-0.258000	0.10820	CCA		0.701	SSTR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000420836.1			3	12	0	0	0	1	0	3	12					T	1129911	C	T	1129911	3	4	318	1	0	0	0	0	1	0	0	0	15200	594	21	3	1045	3	SSTR5	16	1129911	Missense_Mutation	SNP	C	TCGA-KK-A6E7-01A-11D-A31L-08		1129911	89224842	24	16323											
C16orf57	57567	broad.mit.edu	37	chr16	58036476	58036476	+	5'Flank	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gaggggcctgaagatgacagCacaaaacacgggggacgggt	13	3	17	8	2	0	3	0	2	0	1	0	5	0	4	1	5	2	1	1	5	3	0			TCGA-KK-A6E7-01A-11D-A31L-08	TCGA-KK-A6E7-11A-11D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bde582d-6c64-4529-9771-e7f9df342b04	8a82ccc3-d5f6-4647-9699-604814692936	g.chr16:58036476C>T	ENST00000299237.2	-	0	0				USB1_ENST00000563149.1_Silent_p.S64S|USB1_ENST00000565662.1_3'UTR|USB1_ENST00000423271.3_Silent_p.S64S|USB1_ENST00000561743.1_Silent_p.S13S|USB1_ENST00000219281.3_Silent_p.S64S|USB1_ENST00000539737.2_Silent_p.S64S	NM_020807.1	NP_065858.1	Q9P2F9	ZN319_HUMAN	zinc finger protein 319						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			large_intestine(2)|lung(4)|ovary(1)|urinary_tract(1)	8						AAGATGACAGCACAAAACACG	0.592																																						ENST00000219281.3																			0											c.(190-192)agC>agT		U6 snRNA biogenesis 1							86	81	83					16																	58036476		2198	4300	6498	SO:0001631	upstream_gene_variant	79650							g.chr16:58036476C>T	AB037809	CCDS32462.1	16q21	2013-01-08				ENSG00000166188		"Zinc fingers, C2H2-type"	13644	protein-coding gene	gene with protein product						10718198, 11161788	Standard	XM_005256069		Approved	KIAA1388, Zfp319	uc002emx.1	Q9P2F9			16.37:g.58036476C>T	Exception_encountered					USB1_ENST00000423271.3_Silent_p.S64S|USB1_ENST00000539737.2_Silent_p.S64S|USB1_ENST00000565662.1_3'UTR|USB1_ENST00000561743.1_Silent_p.S13S|USB1_ENST00000563149.1_Silent_p.S64S	p.S64S	NM_024598.3	NP_078874.2					2	303	+								Q52LH8	Silent	SNP	ENST00000299237.2	37	c.192C>T	CCDS32462.1																																																																																				0.592	ZNF319-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430317.1			40	36	0	0	0	1	0	40	36					T	58036476	C	T	58036476	1	4	318	0	1	0	0	0	0	0	0	0	1821	709	25	3		3	C16orf57	16	58036476	5'Flank	SNP	C	TCGA-KK-A6E7-01A-11D-A31L-08	56906565	58036476	32318277	25	16324											
ZBTB4	57659	broad.mit.edu	37	chr17	7366351	7366351	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctttgattcctcctcatcCtcctcctcctcctcttcgtc	2	16	3	20	1	2	1	1	1	1	0	11	1	9	1	8	0	0	0	8	0	0	3	rs375158389		TCGA-KK-A6E7-01A-11D-A31L-08	TCGA-KK-A6E7-11A-11D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bde582d-6c64-4529-9771-e7f9df342b04	8a82ccc3-d5f6-4647-9699-604814692936	g.chr17:7366351C>A	ENST00000311403.4	-	4	2289	c.1950G>T	c.(1948-1950)gaG>gaT	p.E650D	ZBTB4_ENST00000380599.4_Missense_Mutation_p.E650D	NM_020899.3	NP_065950.2	Q9P1Z0	ZBTB4_HUMAN	zinc finger and BTB domain containing 4	650	Glu-rich.				cellular response to DNA damage stimulus (GO:0006974)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|methyl-CpG binding (GO:0008327)|methyl-CpNpG binding (GO:0010428)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|sequence-specific DNA binding (GO:0043565)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(3)|skin(6)	36		Colorectal(1115;3.46e-05)|Myeloproliferative disorder(207;0.0255)		COAD - Colon adenocarcinoma(228;4.1e-06)|READ - Rectum adenocarcinoma(115;0.0642)		cctcctcatcctcctcctcct	0.607																																						ENST00000311403.4																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(3)|skin(6)	36						c.(1948-1950)gaG>gaT		zinc finger and BTB domain containing 4							61	48	53					17																	7366351		2203	4300	6503	SO:0001583	missense	57659				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr17:7366351C>A	AB040971	CCDS11107.1	17p13.2	2013-01-09			ENSG00000174282	ENSG00000174282		"-", "BTB/POZ domain containing", "Zinc fingers, C2H2-type"	23847	protein-coding gene	gene with protein product		612308				12477932	Standard	NM_020899		Approved	KIAA1538, KAISO-L1, ZNF903	uc002ghd.4	Q9P1Z0	OTTHUMG00000108137	ENST00000311403.4:c.1950G>T	17.37:g.7366351C>A	ENSP00000307858:p.Glu650Asp					ZBTB4_ENST00000380599.4_Missense_Mutation_p.E650D	p.E650D	NM_020899.3	NP_065950.2	Q9P1Z0	ZBTB4_HUMAN		COAD - Colon adenocarcinoma(228;4.1e-06)|READ - Rectum adenocarcinoma(115;0.0642)	4	2289	-		Colorectal(1115;3.46e-05)|Myeloproliferative disorder(207;0.0255)	650			Glu-rich.		B3KVL6|Q7Z697|Q86XJ4|Q8N4V8	Missense_Mutation	SNP	ENST00000311403.4	37	c.1950G>T	CCDS11107.1	.	.	.	.	.	.	.	.	.	.	C	12.70	2.015816	0.35606	.	.	ENSG00000174282	ENST00000311403;ENST00000380599	T;T	0.16743	2.32;2.32	5.08	-1.9	0.07665	.	0.086238	0.45606	D	0.000345	T	0.10078	0.0247	L	0.44542	1.39	0.23831	N	0.996721	B	0.06786	0.001	B	0.06405	0.002	T	0.37572	-0.9700	10	0.13470	T	0.59	-13.4295	6.1202	0.20150	0.0:0.5071:0.2329:0.2601	.	650	Q9P1Z0	ZBTB4_HUMAN	D	650	ENSP00000307858:E650D;ENSP00000369973:E650D	ENSP00000307858:E650D	E	-	3	2	ZBTB4	7307075	0.978000	0.34361	0.731000	0.30826	0.595000	0.36748	-0.008000	0.12788	-0.451000	0.07097	0.462000	0.41574	GAG		0.607	ZBTB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226940.2	NM_020899		4	41	1	0	2.56e-06	1	2.71059e-06	4	41					A	7366351	C	A	7366351	3	1	318	1	0	0	0	0	1	0	0	0	17538	680	24	5	1095	5	ZBTB4	17	7366351	Missense_Mutation	SNP	C	TCGA-KK-A6E7-01A-11D-A31L-08		7366351	73828859	26	16325											
TNFAIP1	7126	broad.mit.edu	37	chr17	26666643	26666643	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcaacaagtatgtccagctCaacgtgggcggctctctgta	9	9	12	11	2	2	0	1	0	1	0	4	0	3	0	1	3	3	5	1	3	5	2			TCGA-KK-A6E7-01A-11D-A31L-08	TCGA-KK-A6E7-11A-11D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bde582d-6c64-4529-9771-e7f9df342b04	8a82ccc3-d5f6-4647-9699-604814692936	g.chr17:26666643C>A	ENST00000226225.2	+	2	363	c.96C>A	c.(94-96)ctC>ctA	p.L32L	TNFAIP1_ENST00000544907.2_Intron|TNFAIP1_ENST00000583213.1_Intron	NM_021137.4	NP_066960.1	Q13829	BACD2_HUMAN	tumor necrosis factor, alpha-induced protein 1 (endothelial)	32	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				apoptotic process (GO:0006915)|cell migration (GO:0016477)|DNA replication (GO:0006260)|embryo development (GO:0009790)|immune response (GO:0006955)|negative regulation of Rho protein signal transduction (GO:0035024)|positive regulation of DNA replication (GO:0045740)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein homooligomerization (GO:0051260)|protein ubiquitination (GO:0016567)|stress fiber assembly (GO:0043149)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|endosome (GO:0005768)|nucleolus (GO:0005730)	GTP-Rho binding (GO:0017049)			endometrium(3)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)	12	all_lung(13;0.000294)|Lung NSC(42;0.000964)			UCEC - Uterine corpus endometrioid carcinoma (53;0.153)		ATGTCCAGCTCAACGTGGGCG	0.637																																						ENST00000226225.2																			0				endometrium(3)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)	12						c.(94-96)ctC>ctA		tumor necrosis factor, alpha-induced protein 1 (endothelial)							96	82	87					17																	26666643		2203	4300	6503	SO:0001819	synonymous_variant	7126				apoptosis|cell migration|DNA replication|embryo development|immune response|negative regulation of Rho protein signal transduction|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination|stress fiber assembly	Cul3-RING ubiquitin ligase complex|endosome|nucleus|voltage-gated potassium channel complex	GTP-Rho binding|voltage-gated potassium channel activity	g.chr17:26666643C>A		CCDS11227.1	17q22-q23	2013-01-09			ENSG00000109079	ENSG00000109079		"BTB/POZ domain containing"	11894	protein-coding gene	gene with protein product		191161		EDP1		2406243, 2233719	Standard	NM_021137		Approved	B61, B12, MGC2317, BTBD34	uc002hay.3	Q13829	OTTHUMG00000132501	ENST00000226225.2:c.96C>A	17.37:g.26666643C>A						TNFAIP1_ENST00000583213.1_Intron|TNFAIP1_ENST00000544907.2_Intron	p.L32L	NM_021137.4	NP_066960.1	Q13829	BACD2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (53;0.153)	2	363	+	all_lung(13;0.000294)|Lung NSC(42;0.000964)		32			BTB.		B7Z6M4|Q5TZQ1	Silent	SNP	ENST00000226225.2	37	c.96C>A	CCDS11227.1																																																																																				0.637	TNFAIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255681.2	NM_021137		24	64	1	0	2.32416e-17	1	2.56132e-17	24	64					A	26666643	C	A	26666643	2	1	318	1	0	0	0	0	0	0	0	1	16269	813	29	5		5	TNFAIP1	17	26666643	Silent	SNP	C	TCGA-KK-A6E7-01A-11D-A31L-08	19300292	26666643	54528567	27	16326											
CA10	56934	broad.mit.edu	37	chr17	49710999	49710999	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctggttctggctgagcaggcGcaaggaatgcatctgaggag	9	8	16	8	1	2	2	0	2	2	0	2	4	2	4	0	5	2	5	0	5	2	1			TCGA-KK-A6E7-01A-11D-A31L-08	TCGA-KK-A6E7-11A-11D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bde582d-6c64-4529-9771-e7f9df342b04	8a82ccc3-d5f6-4647-9699-604814692936	g.chr17:49710999G>A	ENST00000285273.4	-	9	1913	c.802C>T	c.(802-804)Cgc>Tgc	p.R268C	CA10_ENST00000340813.6_Missense_Mutation_p.R274C|CA10_ENST00000442502.2_Missense_Mutation_p.R268C|CA10_ENST00000571918.1_5'Flank|CA10_ENST00000451037.2_Missense_Mutation_p.R268C|CA10_ENST00000570565.1_Missense_Mutation_p.R193C	NM_001082533.1	NP_001076002.1	Q9NS85	CAH10_HUMAN	carbonic anhydrase X	268					brain development (GO:0007420)					cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|skin(3)|stomach(2)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(22;4.74e-06)		Zonisamide(DB00909)	CTGAGCAGGCGCAAGGAATGC	0.512																																						ENST00000451037.2																			0				cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|skin(3)|stomach(2)|urinary_tract(1)	41						c.(802-804)Cgc>Tgc		carbonic anhydrase X							83	72	76					17																	49710999		2203	4300	6503	SO:0001583	missense	56934				brain development			g.chr17:49710999G>A	AF288385	CCDS32684.1	17q21	2012-08-21			ENSG00000154975	ENSG00000154975		"Carbonic anhydrases"	1369	protein-coding gene	gene with protein product		604642				8673298, 9921901	Standard	NM_020178		Approved	CARPX, CA-RPX, HUCEP-15	uc002itx.4	Q9NS85	OTTHUMG00000177544	ENST00000285273.4:c.802C>T	17.37:g.49710999G>A	ENSP00000285273:p.Arg268Cys					CA10_ENST00000340813.6_Missense_Mutation_p.R274C|CA10_ENST00000442502.2_Missense_Mutation_p.R268C|CA10_ENST00000570565.1_Missense_Mutation_p.R193C|CA10_ENST00000285273.4_Missense_Mutation_p.R268C	p.R268C	NM_020178.4	NP_064563.1	Q9NS85	CAH10_HUMAN	BRCA - Breast invasive adenocarcinoma(22;4.74e-06)		8	1742	-			268					B2R7J0|B4DGL6	Missense_Mutation	SNP	ENST00000285273.4	37	c.802C>T	CCDS32684.1	.	.	.	.	.	.	.	.	.	.	G	20.5	3.995344	0.74703	.	.	ENSG00000154975	ENST00000442502;ENST00000285273;ENST00000451037;ENST00000340813	T;T;T;T	0.71341	-0.56;-0.56;-0.56;-0.56	5.44	3.27	0.37495	Carbonic anhydrase, alpha-class, catalytic domain (4);	0.057228	0.64402	N	0.000002	D	0.85199	0.5642	M	0.93241	3.395	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.85392	0.1126	10	0.87932	D	0	.	6.7148	0.23296	0.0862:0.0:0.6211:0.2928	.	268;274;193	Q9NS85;Q68D28;B4DGL6	CAH10_HUMAN;.;.	C	268;268;268;274	ENSP00000390666:R268C;ENSP00000285273:R268C;ENSP00000405388:R268C;ENSP00000340363:R274C	ENSP00000285273:R268C	R	-	1	0	CA10	47065998	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.046000	0.49846	1.234000	0.43709	0.655000	0.94253	CGC		0.512	CA10-003	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000437480.1	NM_020178		10	66	0	0	0	1	0	10	66					A	49710999	G	A	49710999	3	1	318	1	0	0	0	0	1	0	0	0	2511	1087	38	1	192	1	CA10	17	49710999	Missense_Mutation	SNP	G	TCGA-KK-A6E7-01A-11D-A31L-08	23044356	49710999	31484211	28	16327											
DNAH17	8632	broad.mit.edu	37	chr17	76563157	76563157	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caaagacctcatcatagataCgggtcaccaggctcccgagg	12	6	10	13	2	3	2	3	0	0	2	4	3	4	2	3	3	1	1	3	3	3	2	rs143602861		TCGA-KK-A6E7-01A-11D-A31L-08	TCGA-KK-A6E7-11A-11D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bde582d-6c64-4529-9771-e7f9df342b04	8a82ccc3-d5f6-4647-9699-604814692936	g.chr17:76563157C>T	ENST00000585328.1	-	10	1500	c.1376G>A	c.(1375-1377)cGt>cAt	p.R459H	DNAH17_ENST00000389840.5_Missense_Mutation_p.R459H	NM_173628.3	NP_775899.3	Q9UFH2	DYH17_HUMAN	dynein, axonemal, heavy chain 17	459	Stem. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			ATCATAGATACGGGTCACCAG	0.527													C|||	1	0.000199681	8e-04	0	5008	,	,		19001	0		0	False		,,,				2504	0					ENST00000389840.5																			0				NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116						c.(1375-1377)cGt>cAt		dynein, axonemal, heavy chain 17		C	HIS/ARG	11,4395	17.9+/-39.9	0,11,2192	64	53	57		1376	3.8	0	17	dbSNP_134	57	0,8598		0,0,4299	yes	missense	DNAH17	NM_173628.3	29	0,11,6491	TT,TC,CC		0.0,0.2497,0.0846	benign	459/4463	76563157	11,12993	2203	4299	6502	SO:0001583	missense	8632							g.chr17:76563157C>T	AJ000522		17q25.3	2012-04-19	2006-09-04		ENSG00000187775	ENSG00000187775		"Axonemal dyneins"	2946	protein-coding gene	gene with protein product		610063	"dynein, axonemal, heavy polypeptide 17", "dynein, axonemal, heavy chain like 1", "dynein, axonemal, heavy like 1"	DNAHL1		9545504	Standard	NM_173628		Approved	DNEL2, FLJ40457	uc010dhp.2	Q9UFH2		ENST00000585328.1:c.1376G>A	17.37:g.76563157C>T	ENSP00000465516:p.Arg459His					DNAH17_ENST00000585328.1_Missense_Mutation_p.R459H	p.R459H					BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)		10	1500	-								O00431|O15206|Q2M2Y1|Q6ZRQ2|Q8N7Q7	Missense_Mutation	SNP	ENST00000585328.1	37	c.1376G>A		.	.	.	.	.	.	.	.	.	.	C	6.661	0.490524	0.12702	0.002497	0.0	ENSG00000187775	ENST00000300671;ENST00000389840	T	0.56275	0.47	4.92	3.84	0.44239	.	0.207650	0.24134	N	0.041231	T	0.36635	0.0974	N	0.24115	0.695	0.09310	N	0.999999	B	0.06786	0.001	B	0.04013	0.001	T	0.27806	-1.0063	10	0.52906	T	0.07	.	9.0902	0.36605	0.0:0.0861:0.0:0.9139	.	161	Q9UFH2-4	.	H	459	ENSP00000374490:R459H	ENSP00000300671:R459H	R	-	2	0	DNAH17	74074752	0.972000	0.33761	0.017000	0.16124	0.041000	0.13682	0.979000	0.29500	0.849000	0.35215	-0.340000	0.08031	CGT		0.527	DNAH17-001	PUTATIVE	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000318962.2	NM_173628		3	28	0	0	0	1	0	3	28					T	76563157	C	T	76563157	3	4	318	1	0	0	0	0	1	0	0	0	4601	536	19	1	12300	1	DNAH17	17	76563157	Missense_Mutation	SNP	C	TCGA-KK-A6E7-01A-11D-A31L-08	26852158	76563157	4632053	29	16328											
GPS1	2873	broad.mit.edu	37	chr17	80013939	80013939	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gccttggctacctttgaccgGcaggagctgcagcgcaatgt	7	9	13	12	2	0	1	0	1	0	0	0	2	0	2	3	3	4	5	3	3	2	3			TCGA-KK-A6E7-01A-11D-A31L-08	TCGA-KK-A6E7-11A-11D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bde582d-6c64-4529-9771-e7f9df342b04	8a82ccc3-d5f6-4647-9699-604814692936	g.chr17:80013939G>A	ENST00000306823.6	+	8	932	c.909G>A	c.(907-909)cgG>cgA	p.R303R	GPS1_ENST00000320548.4_Silent_p.R283R|GPS1_ENST00000578552.1_Silent_p.R299R|GPS1_ENST00000392358.2_Silent_p.R339R|GPS1_ENST00000355130.2_Silent_p.R339R			Q13098	CSN1_HUMAN	G protein pathway suppressor 1	303					cell cycle (GO:0007049)|cullin deneddylation (GO:0010388)|inactivation of MAPK activity (GO:0000188)|JNK cascade (GO:0007254)	COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	GTPase inhibitor activity (GO:0005095)			breast(1)|central_nervous_system(1)|endometrium(3)|liver(1)|lung(4)|prostate(1)|skin(2)	13	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0211)			CCTTTGACCGGCAGGAGCTGC	0.652																																						ENST00000392358.2																			0				breast(1)|central_nervous_system(1)|endometrium(3)|liver(1)|lung(4)|prostate(1)|skin(2)	13						c.(1015-1017)cgG>cgA		G protein pathway suppressor 1							36	30	32					17																	80013939		2201	4298	6499	SO:0001819	synonymous_variant	2873				cell cycle|cullin deneddylation|inactivation of MAPK activity|JNK cascade	cytoplasm|signalosome	GTPase inhibitor activity|protein binding	g.chr17:80013939G>A		CCDS11800.1, CCDS32774.1	17q25.3	2013-03-14				ENSG00000169727			4549	protein-coding gene	gene with protein product	"COP9 signalosome subunit 1"	601934				9535219	Standard	NM_212492		Approved	COPS1, CSN1	uc002kdl.1	Q13098		ENST00000306823.6:c.909G>A	17.37:g.80013939G>A						GPS1_ENST00000306823.6_Silent_p.R303R|GPS1_ENST00000355130.2_Silent_p.R339R|GPS1_ENST00000320548.4_Silent_p.R283R|GPS1_ENST00000578552.1_Silent_p.R299R	p.R339R	NM_212492.1	NP_997657.1	Q13098	CSN1_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0211)		8	1366	+	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		303			PCI.		Q8NA10|Q9BWL1	Silent	SNP	ENST00000306823.6	37	c.1017G>A	CCDS32774.1																																																																																				0.652	GPS1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000442176.1	NM_212492		4	39	0	0	0	1	0	4	39					A	80013939	G	A	80013939	2	1	318	1	0	0	0	0	0	0	0	1	6732	1190	42	3		3	GPS1	17	80013939	Silent	SNP	G	TCGA-KK-A6E7-01A-11D-A31L-08	3450782	80013939	1181271	30	16329											
TBCD	6904	broad.mit.edu	37	chr17	80900326	80900327	+	Splice_Site	INS	-	-	T																															gtcttgtctcttcttcagccINStggtgcctgctgaagccagt																								rs368769893		TCGA-KK-A6E7-01A-11D-A31L-08	TCGA-KK-A6E7-11A-11D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bde582d-6c64-4529-9771-e7f9df342b04	8a82ccc3-d5f6-4647-9699-604814692936	g.chr17:80900326_80900327insT	ENST00000355528.4	+	39	3696_3697	c.3566_3567insT	c.(3565-3570)cctggt>ccTtggt	p.G1190fs	TBCD_ENST00000576691.1_3'UTR|TBCD_ENST00000539345.2_Splice_Site_p.G1228fs	NM_005993.4	NP_005984.3	Q9BTW9	TBCD_HUMAN	tubulin folding cofactor D	1190					'de novo' posttranslational protein folding (GO:0051084)|adherens junction assembly (GO:0034333)|cellular protein metabolic process (GO:0044267)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of microtubule polymerization (GO:0031115)|positive regulation of GTPase activity (GO:0043547)|post-chaperonin tubulin folding pathway (GO:0007023)|protein folding (GO:0006457)|tight junction assembly (GO:0070830)	adherens junction (GO:0005912)|cytoplasm (GO:0005737)|lateral plasma membrane (GO:0016328)|microtubule (GO:0005874)|tight junction (GO:0005923)	beta-tubulin binding (GO:0048487)|chaperone binding (GO:0051087)|GTPase activator activity (GO:0005096)					Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0266)|all_epithelial(8;0.0696)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.18)			CTTCTTCAGCCTGGTGCCTGCT	0.619																																						ENST00000355528.4																			0											c.e39-1		tubulin folding cofactor D																																				SO:0001630	splice_region_variant	6904				'de novo' posttranslational protein folding|adherens junction assembly|negative regulation of cell-substrate adhesion|negative regulation of microtubule polymerization|post-chaperonin tubulin folding pathway|tight junction assembly	adherens junction|cytoplasm|lateral plasma membrane|microtubule|tight junction	beta-tubulin binding|chaperone binding|GTPase activator activity	g.chr17:80900326_80900327insT	BC003094	CCDS45818.1	17q25.3	2006-11-21	2006-11-21			ENSG00000141556			11581	protein-coding gene	gene with protein product		604649	"tubulin-specific chaperone d"				Standard	NM_005993		Approved		uc002kfz.3	Q9BTW9		ENST00000355528.4:c.3565-1->T	17.37:g.80900327_80900327dupT						TBCD_ENST00000576691.1_3'UTR|TBCD_ENST00000539345.2_Splice_Site_p.R1227_splice	p.R1189_splice	NM_005993.4	NP_005984.3	Q9BTW9	TBCD_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.18)		39	3696_3697	+	Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0266)|all_epithelial(8;0.0696)	1189					O95458|Q7L8K1|Q8IXP6|Q8NAX0|Q8WYH4|Q96E74|Q9UF82|Q9UG46|Q9Y2J3	Splice_Site	INS	ENST00000355528.4	37	c.3564_splice	CCDS45818.1																																																																																				0.619	TBCD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439415.1	NM_005993	Frame_Shift_Ins	31	46						31	46	---	---	---	---	T	80900327	-	T	80900326	8	5	318	1	0	1	1	0	0	0	1	0	15630	695	24	0	3720	0	TBCD	17	80900326	Splice_Site	INS	-	TCGA-KK-A6E7-01A-11D-A31L-08	886387	80900326	294884	31	16330											
TCEB3B	51224	broad.mit.edu	37	chr18	44560758	44560758	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcctccaaggcagggacaCgctggccgctgccagcttgc	6	6	12	17	2	0	0	0	0	0	0	2	1	2	1	5	3	3	4	5	3	1	1			TCGA-KK-A6E7-01A-11D-A31L-08	TCGA-KK-A6E7-11A-11D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bde582d-6c64-4529-9771-e7f9df342b04	8a82ccc3-d5f6-4647-9699-604814692936	g.chr18:44560758C>T	ENST00000332567.4	-	1	1230	c.878G>A	c.(877-879)cGt>cAt	p.R293H	KATNAL2_ENST00000592005.1_Intron|KATNAL2_ENST00000245121.5_Intron|KATNAL2_ENST00000356157.7_Intron	NM_016427.2	NP_057511.2	Q8IYF1	ELOA2_HUMAN	transcription elongation factor B polypeptide 3B (elongin A2)	293					regulation of DNA-templated transcription, elongation (GO:0032784)|transcription from RNA polymerase II promoter (GO:0006366)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|lung(24)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						GGCAGGGACACGCTGGCCGCT	0.627																																						ENST00000332567.4																			0				breast(1)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|lung(24)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						c.(877-879)cGt>cAt		transcription elongation factor B polypeptide 3B (elongin A2)							102	110	108					18																	44560758		2203	4299	6502	SO:0001583	missense	51224				regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter	integral to membrane|nucleus	DNA binding	g.chr18:44560758C>T	BC036022	CCDS11932.1	18q21.1	2009-08-04			ENSG00000206181	ENSG00000206181			30771	protein-coding gene	gene with protein product	"transcription elongation factor (SIII) elongin A2", "elongin A2"	609522				7660129, 8244996	Standard	NM_016427		Approved	HsT832, TCEB3L	uc002lcr.1	Q8IYF1	OTTHUMG00000132649	ENST00000332567.4:c.878G>A	18.37:g.44560758C>T	ENSP00000331302:p.Arg293His					KATNAL2_ENST00000245121.5_Intron|KATNAL2_ENST00000592005.1_Intron|KATNAL2_ENST00000356157.7_Intron	p.R293H	NM_016427.2	NP_057511.2	Q8IYF1	ELOA2_HUMAN			1	1230	-			293					Q9P2V9	Missense_Mutation	SNP	ENST00000332567.4	37	c.878G>A	CCDS11932.1	.	.	.	.	.	.	.	.	.	.	C	0.046	-1.266193	0.01433	.	.	ENSG00000206181	ENST00000332567	T	0.07444	3.19	1.87	-3.74	0.04385	.	654.349000	0.01896	U	0.038901	T	0.04497	0.0123	N	0.14661	0.345	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.31110	-0.9955	10	0.39692	T	0.17	.	0.4161	0.00449	0.3204:0.1873:0.3093:0.1829	.	293	Q8IYF1	ELOA2_HUMAN	H	293	ENSP00000331302:R293H	ENSP00000331302:R293H	R	-	2	0	TCEB3B	42814756	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.496000	0.06436	-1.521000	0.01771	-2.468000	0.00203	CGT		0.627	TCEB3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255900.1	NM_016427		51	92	0	0	0	1	0	51	92					T	44560758	C	T	44560758	3	4	318	1	0	0	0	0	1	0	0	0	15679	536	19	1	1387	1	TCEB3B	18	44560758	Missense_Mutation	SNP	C	TCGA-KK-A6E7-01A-11D-A31L-08		44560758	33516490	32	16331											
MUC16	94025	broad.mit.edu	37	chr19	9057963	9057963	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ctgagtcagctaggacagagGaatgagattcatgaacagaa	16	7	12	6	0	2	5	2	3	0	3	2	8	2	7	0	2	2	1	0	2	4	2			TCGA-KK-A6E7-01A-11D-A31L-08	TCGA-KK-A6E7-11A-11D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bde582d-6c64-4529-9771-e7f9df342b04	8a82ccc3-d5f6-4647-9699-604814692936	g.chr19:9057963G>A	ENST00000397910.4	-	3	29686	c.29483C>T	c.(29482-29484)tCc>tTc	p.S9828F		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	9830	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TAGGACAGAGGAATGAGATTC	0.463																																						ENST00000397910.4																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(29482-29484)tCc>tTc		mucin 16, cell surface associated							133	133	133					19																	9057963		2049	4194	6243	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9057963G>A	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.29483C>T	19.37:g.9057963G>A	ENSP00000381008:p.Ser9828Phe						p.S9828F	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			3	29686	-			9830			Ser-rich.|Thr-rich.		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.29483C>T	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	g	3.964	-0.009643	0.07727	.	.	ENSG00000181143	ENST00000397910	T	0.38887	1.11	2.43	-1.15	0.09709	.	.	.	.	.	T	0.21921	0.0528	L	0.27053	0.805	.	.	.	P	0.36712	0.566	B	0.32928	0.155	T	0.20472	-1.0274	8	0.87932	D	0	.	0.9313	0.01335	0.1578:0.2425:0.3766:0.2231	.	9828	B5ME49	.	F	9828	ENSP00000381008:S9828F	ENSP00000381008:S9828F	S	-	2	0	MUC16	8918963	0.001000	0.12720	0.000000	0.03702	0.001000	0.01503	0.796000	0.26986	-0.162000	0.10964	-0.259000	0.10710	TCC		0.463	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		38	66	0	0	0	1	0	38	66					A	9057963	G	A	9057963	3	1	318	1	0	0	0	0	1	0	0	0	9973	1174	41	3	14368	3	MUC16	19	9057963	Missense_Mutation	SNP	G	TCGA-KK-A6E7-01A-11D-A31L-08		9057963	50071020	33	16332											
MUC16	94025	broad.mit.edu	37	chr19	9091118	9091118	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcaaggaaggaagaataaaGtgtcccaaatgatgggtttg	15	9	13	4	0	1	2	1	1	0	1	2	4	2	4	1	3	0	1	1	3	7	2			TCGA-KK-A6E7-01A-11D-A31L-08	TCGA-KK-A6E7-11A-11D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bde582d-6c64-4529-9771-e7f9df342b04	8a82ccc3-d5f6-4647-9699-604814692936	g.chr19:9091118G>T	ENST00000397910.4	-	1	900	c.697C>A	c.(697-699)Ctt>Att	p.L233I		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	233	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GAAGAATAAAGTGTCCCAAAT	0.463																																						ENST00000397910.4																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(697-699)Ctt>Att		mucin 16, cell surface associated							126	122	123					19																	9091118		1970	4162	6132	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9091118G>T	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.697C>A	19.37:g.9091118G>T	ENSP00000381008:p.Leu233Ile						p.L233I	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			1	900	-			233			Thr-rich.		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.697C>A	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	g	0.001	-2.964453	0.00049	.	.	ENSG00000181143	ENST00000397910	T	0.02890	4.12	1.49	-2.99	0.05497	.	.	.	.	.	T	0.01523	0.0049	N	0.08118	0	.	.	.	B	0.14012	0.009	B	0.10450	0.005	T	0.45011	-0.9290	8	0.87932	D	0	.	2.8493	0.05552	0.1636:0.2058:0.4904:0.1403	.	233	B5ME49	.	I	233	ENSP00000381008:L233I	ENSP00000381008:L233I	L	-	1	0	MUC16	8952118	0.000000	0.05858	0.000000	0.03702	0.036000	0.12997	-4.544000	0.00218	-2.826000	0.00341	-0.689000	0.03729	CTT		0.463	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		5	68	1	0	3.59834e-05	1	3.73673e-05	5	68					T	9091118	G	T	9091118	3	4	318	1	0	0	0	0	1	0	0	0	9973	1029	36	5	43162	5	MUC16	19	9091118	Missense_Mutation	SNP	G	TCGA-KK-A6E7-01A-11D-A31L-08	33155	9091118	50037865	34	16333											
SBSN	374897	broad.mit.edu	37	chr19	36018836	36018836	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gcagcgttgttgaccccatgGccaagcttctctgcttcctt	5	13	9	14	1	1	1	0	1	1	0	3	1	2	1	4	1	3	5	4	1	1	5			TCGA-KK-A6E7-01A-11D-A31L-08	TCGA-KK-A6E7-11A-11D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bde582d-6c64-4529-9771-e7f9df342b04	8a82ccc3-d5f6-4647-9699-604814692936	g.chr19:36018836G>A	ENST00000452271.2	-	1	376	c.348C>T	c.(346-348)ggC>ggT	p.G116G	SBSN_ENST00000518157.1_Silent_p.G116G	NM_001166034.1	NP_001159506.1	Q6UWP8	SBSN_HUMAN	suprabasin	116	Ala/Gly/His-rich.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)				large_intestine(5)|lung(6)|ovary(1)|prostate(2)	14	all_lung(56;1.62e-08)|Lung NSC(56;2.47e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			TGACCCCATGGCCAAGCTTCT	0.572																																						ENST00000452271.2																			0				large_intestine(5)|lung(6)|ovary(1)|prostate(2)	14						c.(346-348)ggC>ggT		suprabasin							206	193	197					19																	36018836		2203	4300	6503	SO:0001819	synonymous_variant	374897					extracellular region		g.chr19:36018836G>A	AY358701	CCDS12464.1, CCDS54253.1	19q13.13	2008-02-05							24950	protein-coding gene	gene with protein product		609969				12228223	Standard	NM_198538		Approved	UNQ698, HLAR698	uc002oad.2	Q6UWP8		ENST00000452271.2:c.348C>T	19.37:g.36018836G>A						SBSN_ENST00000518157.1_Silent_p.G116G	p.G116G	NM_001166034.1	NP_001159506.1	Q6UWP8	SBSN_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0724)		1	376	-	all_lung(56;1.62e-08)|Lung NSC(56;2.47e-08)|Esophageal squamous(110;0.162)		116			Ala/Gly/His-rich.		A8K5J0|E9PBV3	Silent	SNP	ENST00000452271.2	37	c.348C>T	CCDS54253.1																																																																																				0.572	SBSN-002	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000109463.3	NM_198538		10	170	0	0	0	1	0	10	170					A	36018836	G	A	36018836	2	1	318	1	0	0	0	0	0	0	0	1	13864	1190	42	3		3	SBSN	19	36018836	Silent	SNP	G	TCGA-KK-A6E7-01A-11D-A31L-08	26927718	36018836	23110147	35	16334											
C19orf47	126526	broad.mit.edu	37	chr19	40828229	40828229	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gtcattgtcgctgtcccaagCcagatcctcgtccgtttctg	5	13	9	14	3	2	1	1	0	1	1	7	1	5	1	4	0	1	2	4	0	1	2			TCGA-KK-A6E7-01A-11D-A31L-08	TCGA-KK-A6E7-11A-11D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bde582d-6c64-4529-9771-e7f9df342b04	8a82ccc3-d5f6-4647-9699-604814692936	g.chr19:40828229C>A	ENST00000582783.1	-	9	841	c.829G>T	c.(829-831)Gct>Tct	p.A277S	C19orf47_ENST00000392035.2_Missense_Mutation_p.A210S|C19orf47_ENST00000584868.1_5'UTR	NM_001256440.1	NP_001243369.1	Q8N9M1	CS047_HUMAN	chromosome 19 open reading frame 47	277						nucleus (GO:0005634)				endometrium(5)|kidney(2)|lung(7)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	20			Lung(22;0.000636)			CTGTCCCAAGCCAGATCCTCG	0.612																																						ENST00000582783.1																			0				endometrium(5)|kidney(2)|lung(7)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	20						c.(829-831)Gct>Tct		chromosome 19 open reading frame 47							32	34	33					19																	40828229		2203	4300	6503	SO:0001583	missense	126526							g.chr19:40828229C>A	AL834131	CCDS58662.1	19q13.2	2012-07-20			ENSG00000160392	ENSG00000160392			26723	protein-coding gene	gene with protein product						12477932	Standard	NM_001256440		Approved	FLJ36888	uc002oni.5	Q8N9M1	OTTHUMG00000179028	ENST00000582783.1:c.829G>T	19.37:g.40828229C>A	ENSP00000463159:p.Ala277Ser					C19orf47_ENST00000584868.1_5'UTR|C19orf47_ENST00000392035.2_Missense_Mutation_p.A210S	p.A277S	NM_001256440.1	NP_001243369.1	Q8N9M1	CS047_HUMAN	Lung(22;0.000636)		9	841	-			277					Q8IZ33|Q8N0V9	Missense_Mutation	SNP	ENST00000582783.1	37	c.829G>T	CCDS58662.1	.	.	.	.	.	.	.	.	.	.	C	15.03	2.712113	0.48517	.	.	ENSG00000160392	ENST00000357884;ENST00000392035	.	.	.	5.57	5.57	0.84162	.	0.611666	0.18090	N	0.152022	T	0.46639	0.1403	M	0.63428	1.95	0.21416	N	0.999695	P	0.36837	0.571	B	0.33392	0.163	T	0.44050	-0.9353	9	0.23302	T	0.38	-17.3045	18.3148	0.90217	0.0:1.0:0.0:0.0	.	277	Q8N9M1	CS047_HUMAN	S	277;210	.	ENSP00000350556:A277S	A	-	1	0	C19orf47	45520069	0.932000	0.31603	0.996000	0.52242	0.978000	0.69477	4.178000	0.58284	2.619000	0.88677	0.561000	0.74099	GCT		0.612	C19orf47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444488.1	NM_178830		16	35	1	0	1.37285e-15	1	1.48268e-15	16	35					A	40828229	C	A	40828229	3	1	318	1	0	0	0	0	1	0	0	0	1930	739	26	5	443	5	C19orf47	19	40828229	Missense_Mutation	SNP	C	TCGA-KK-A6E7-01A-11D-A31L-08	4809393	40828229	18300754	36	16335											
ARHGEF1	9138	broad.mit.edu	37	chr19	42409353	42409353	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tgctctcatcactgagactgCcggatccctgaaagtccctg	8	10	9	14	1	2	2	2	2	1	1	5	4	4	3	3	1	2	1	3	1	1	0			TCGA-KK-A6E7-01A-11D-A31L-08	TCGA-KK-A6E7-11A-11D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bde582d-6c64-4529-9771-e7f9df342b04	8a82ccc3-d5f6-4647-9699-604814692936	g.chr19:42409353C>T	ENST00000354532.3	+	24	2424	c.2276C>T	c.(2275-2277)gCc>gTc	p.A759V	ARHGEF1_ENST00000599846.1_Missense_Mutation_p.A815V|ARHGEF1_ENST00000378152.4_Missense_Mutation_p.A741V|ARHGEF1_ENST00000337665.4_Missense_Mutation_p.A774V|ARHGEF1_ENST00000347545.4_Missense_Mutation_p.A726V	NM_004706.3	NP_004697.2	Q92888	ARHG1_HUMAN	Rho guanine nucleotide exchange factor (GEF) 1	759	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				cell proliferation (GO:0008283)|negative regulation of axonogenesis (GO:0050771)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of axonogenesis (GO:0050770)|Rho protein signal transduction (GO:0007266)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|poly(A) RNA binding (GO:0044822)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|endometrium(8)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		Renal(1328;0.000518)|Hepatocellular(1079;0.0046)|Medulloblastoma(540;0.0425)		Epithelial(262;5.89e-46)|GBM - Glioblastoma multiforme(1328;2.49e-12)|STAD - Stomach adenocarcinoma(1328;0.00644)		ACTGAGACTGCCGGATCCCTG	0.662																																						ENST00000599846.1																			0				breast(2)|endometrium(8)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						c.(2443-2445)gCc>gTc		Rho guanine nucleotide exchange factor (GEF) 1							60	58	59					19																	42409353		2203	4300	6503	SO:0001583	missense	0				cell proliferation|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway|positive regulation of axonogenesis|regulation of Rho protein signal transduction|Rho protein signal transduction	cytosol|plasma membrane	GTPase activator activity|protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr19:42409353C>T	U64105	CCDS12590.1, CCDS12591.1, CCDS12592.1	19q13.13	2014-06-19			ENSG00000076928	ENSG00000076928		"Rho guanine nucleotide exchange factors"	681	protein-coding gene	gene with protein product		601855				8810315, 9135076	Standard	NM_004706		Approved	P115-RHOGEF, SUB1.5, LBCL2	uc002osa.3	Q92888	OTTHUMG00000182679	ENST00000354532.3:c.2276C>T	19.37:g.42409353C>T	ENSP00000346532:p.Ala759Val					ARHGEF1_ENST00000378152.4_Missense_Mutation_p.A741V|ARHGEF1_ENST00000354532.3_Missense_Mutation_p.A759V|ARHGEF1_ENST00000347545.4_Missense_Mutation_p.A726V|ARHGEF1_ENST00000337665.4_Missense_Mutation_p.A774V	p.A815V			Q92888	ARHG1_HUMAN		Epithelial(262;5.89e-46)|GBM - Glioblastoma multiforme(1328;2.49e-12)|STAD - Stomach adenocarcinoma(1328;0.00644)	25	2569	+		Renal(1328;0.000518)|Hepatocellular(1079;0.0046)|Medulloblastoma(540;0.0425)	759					O00513|Q8N4J4|Q96BF4|Q96F17|Q9BSB1	Missense_Mutation	SNP	ENST00000354532.3	37	c.2444C>T	CCDS12591.1	.	.	.	.	.	.	.	.	.	.	C	18.99	3.740748	0.69304	.	.	ENSG00000076928	ENST00000354532;ENST00000347545;ENST00000337665;ENST00000378152	T;T;T;T	0.62105	0.05;0.05;0.05;0.05	3.93	3.93	0.45458	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	0.078909	0.49916	D	0.000124	T	0.56062	0.1960	N	0.24115	0.695	0.42436	D	0.992693	P;P;D;P	0.69078	0.558;0.686;0.997;0.791	B;B;P;B	0.55871	0.028;0.066;0.786;0.055	T	0.51426	-0.8707	10	0.07325	T	0.83	-9.7457	13.8408	0.63437	0.0:1.0:0.0:0.0	.	741;774;726;759	Q6NX52;Q92888-3;Q92888-2;Q92888	.;.;.;ARHG1_HUMAN	V	759;726;774;741	ENSP00000346532:A759V;ENSP00000344429:A726V;ENSP00000337261:A774V;ENSP00000367394:A741V	ENSP00000337261:A774V	A	+	2	0	ARHGEF1	47101193	0.985000	0.35326	0.959000	0.39883	0.968000	0.65278	3.596000	0.54024	1.917000	0.55516	0.555000	0.69702	GCC		0.662	ARHGEF1-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000463360.1	NM_199002		4	89	0	0	0	1	0	4	89					T	42409353	C	T	42409353	3	4	318	1	0	0	0	0	1	0	0	0	893	739	26	3	2415	3	ARHGEF1	19	42409353	Missense_Mutation	SNP	C	TCGA-KK-A6E7-01A-11D-A31L-08	1581124	42409353	16719630	37	16336											
LILRA5	353514	broad.mit.edu	37	chr19	54822890	54822890	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcagtcagaatgaacctgTcgaatctcagccgtgagcca	11	8	9	13	2	3	3	3	2	1	1	5	4	3	3	4	0	3	0	4	0	3	0	rs200805419		TCGA-KK-A6E7-01A-11D-A31L-08	TCGA-KK-A6E7-11A-11D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bde582d-6c64-4529-9771-e7f9df342b04	8a82ccc3-d5f6-4647-9699-604814692936	g.chr19:54822890T>G	ENST00000301219.3	-	5	625	c.506A>C	c.(505-507)gAc>gCc	p.D169A	LILRA5_ENST00000446712.3_Missense_Mutation_p.D157A|AC008984.2_ENST00000507363.1_RNA|LILRA5_ENST00000346508.3_Missense_Mutation_p.D157A|LILRA5_ENST00000432233.3_Missense_Mutation_p.D169A	NM_021250.2	NP_067073.1	A6NI73	LIRA5_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 5	169	Ig-like C2-type 2.				innate immune response (GO:0045087)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	20	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		AATGAACCTGTCGAATCTCAG	0.587																																						ENST00000301219.3																			0				breast(1)|endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	20						c.(505-507)gAc>gCc		leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 5							65	64	65					19																	54822890		2203	4300	6503	SO:0001583	missense	353514				innate immune response	extracellular region|integral to membrane	receptor activity	g.chr19:54822890T>G	AF212842	CCDS12888.1, CCDS12889.1	19q13.4	2013-01-11	2005-05-13	2005-05-13	ENSG00000187116	ENSG00000187116		"Leukocyte immunoglobulin-like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	16309	protein-coding gene	gene with protein product		606047		LILRB7		10941842	Standard	NM_181986		Approved	ILT11, LIR9, CD85, CD85f	uc002qfe.3	A6NI73	OTTHUMG00000065357	ENST00000301219.3:c.506A>C	19.37:g.54822890T>G	ENSP00000301219:p.Asp169Ala					LILRA5_ENST00000346508.3_Missense_Mutation_p.D157A|LILRA5_ENST00000432233.3_Missense_Mutation_p.D169A|AC008984.2_ENST00000507363.1_RNA|LILRA5_ENST00000446712.3_Missense_Mutation_p.D157A	p.D169A	NM_021250.2	NP_067073.1	A6NI73	LIRA5_HUMAN		GBM - Glioblastoma multiforme(193;0.105)	5	625	-	Ovarian(34;0.19)		169			Ig-like C2-type 2.		A6NHI3	Missense_Mutation	SNP	ENST00000301219.3	37	c.506A>C	CCDS12888.1	.	.	.	.	.	.	.	.	.	.	T	9.535	1.111769	0.20714	.	.	ENSG00000187116	ENST00000301219;ENST00000346508;ENST00000446712;ENST00000432233	T;T;T;T	0.02763	4.17;4.17;4.17;4.17	3.14	-5.81	0.02340	Immunoglobulin-like fold (1);	2.440830	0.02224	U	0.064238	T	0.06188	0.0160	H	0.95114	3.625	0.09310	N	1	P;P;P;B	0.45594	0.54;0.862;0.715;0.195	B;B;B;B	0.30943	0.106;0.122;0.106;0.054	T	0.50048	-0.8873	10	0.51188	T	0.08	.	4.8372	0.13471	0.0:0.34:0.3072:0.3528	.	157;169;157;169	A6NI73-4;A6NI73-3;A6NI73-2;A6NI73	.;.;.;LIRA5_HUMAN	A	169;157;157;169	ENSP00000301219:D169A;ENSP00000302948:D157A;ENSP00000389499:D157A;ENSP00000404236:D169A	ENSP00000301219:D169A	D	-	2	0	LILRA5	59514702	0.000000	0.05858	0.000000	0.03702	0.119000	0.20118	0.301000	0.19174	-1.084000	0.03092	0.172000	0.16884	GAC		0.587	LILRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000140231.1	NM_181985		34	58	0	0	0	1	0	34	58					G	54822890	T	G	54822890	3	3	318	1	0	0	0	0	1	0	0	0	8788	1667	58	5	491	5	LILRA5	19	54822890	Missense_Mutation	SNP	T	TCGA-KK-A6E7-01A-11D-A31L-08	12413537	54822890	4306093	38	16337											
RBPJL	11317	broad.mit.edu	37	chr20	43943137	43943137	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	acaagtgtgcattccagtttCcaggcagtcccccaggaggg	9	8	12	12	0	0	0	0	0	0	0	3	1	3	1	4	3	1	3	4	3	1	2			TCGA-KK-A6E7-01A-11D-A31L-08	TCGA-KK-A6E7-11A-11D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bde582d-6c64-4529-9771-e7f9df342b04	8a82ccc3-d5f6-4647-9699-604814692936	g.chr20:43943137C>A	ENST00000343694.3	+	9	1024	c.952C>A	c.(952-954)Cca>Aca	p.P318T	RBPJL_ENST00000464504.1_3'UTR|RBPJL_ENST00000372741.3_Missense_Mutation_p.P318T|RBPJL_ENST00000372743.1_Missense_Mutation_p.P318T	NM_001281448.1|NM_001281449.1|NM_014276.2	NP_001268377.1|NP_001268378.1|NP_055091.2	Q9UBG7	RBPJL_HUMAN	recombination signal binding protein for immunoglobulin kappa J region-like	318					positive regulation of transcription, DNA-templated (GO:0045893)|signal transduction (GO:0007165)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity (GO:0000982)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(2)|kidney(1)|large_intestine(5)|lung(3)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Myeloproliferative disorder(115;0.0122)				ATTCCAGTTTCCAGGCAGTCC	0.522																																						ENST00000343694.3																			0				NS(1)|breast(2)|kidney(1)|large_intestine(5)|lung(3)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(952-954)Cca>Aca		recombination signal binding protein for immunoglobulin kappa J region-like							122	107	112					20																	43943137		2203	4300	6503	SO:0001583	missense	11317				signal transduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr20:43943137C>A	AB024964	CCDS13349.1, CCDS63283.1, CCDS63284.1	20q13.12	2013-10-18	2007-02-26	2007-02-26	ENSG00000124232	ENSG00000124232			13761	protein-coding gene	gene with protein product			"recombining binding protein suppressor of hairless (Drosophila)-like"	RBPSUHL		9929984	Standard	NM_014276		Approved	RBP-L, SUH, SUHL	uc002xns.3	Q9UBG7	OTTHUMG00000033055	ENST00000343694.3:c.952C>A	20.37:g.43943137C>A	ENSP00000341243:p.Pro318Thr					RBPJL_ENST00000464504.1_3'UTR|RBPJL_ENST00000372743.1_Missense_Mutation_p.P318T|RBPJL_ENST00000372741.3_Missense_Mutation_p.P318T	p.P318T	NM_014276.2	NP_055091.2	Q9UBG7	RBPJL_HUMAN			9	1024	+		Myeloproliferative disorder(115;0.0122)	318					O95723|Q5QPU9|Q5QPV0|Q9ULV9	Missense_Mutation	SNP	ENST00000343694.3	37	c.952C>A	CCDS13349.1	.	.	.	.	.	.	.	.	.	.	C	14.64	2.596104	0.46318	.	.	ENSG00000124232	ENST00000372743;ENST00000372741;ENST00000343694	T;T;T	0.28454	1.61;1.61;1.61	4.9	4.9	0.64082	Beta-trefoil (2);	0.169716	0.40222	N	0.001159	T	0.15955	0.0384	N	0.03608	-0.345	0.41338	D	0.987283	P;B	0.43578	0.811;0.425	B;B	0.41135	0.348;0.233	T	0.12915	-1.0529	10	0.22109	T	0.4	-12.7311	15.3943	0.74778	0.0:1.0:0.0:0.0	.	318;318	Q5QPV1;Q9UBG7	.;RBPJL_HUMAN	T	318	ENSP00000361828:P318T;ENSP00000361826:P318T;ENSP00000341243:P318T	ENSP00000341243:P318T	P	+	1	0	RBPJL	43376551	0.668000	0.27493	0.496000	0.27539	0.666000	0.39218	2.595000	0.46197	2.543000	0.85770	0.467000	0.42956	CCA		0.522	RBPJL-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080391.1	NM_014276		4	123	1	0	0.00909568	1	0.00909568	4	123					A	43943137	C	A	43943137	3	1	318	1	0	0	0	0	1	0	0	0	13162	855	30	5	986	5	RBPJL	20	43943137	Missense_Mutation	SNP	C	TCGA-KK-A6E7-01A-11D-A31L-08		43943137	19082383	39	16338											
DCAF12L2	340578	broad.mit.edu	37	chrX	125299264	125299264	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tccgccacagagccacggtgCcgtcgcgggagccgctcaca	7	4	13	17	6	1	1	1	0	0	1	3	2	2	2	5	2	3	1	5	2	0	0			TCGA-KK-A6E7-01A-11D-A31L-08	TCGA-KK-A6E7-11A-11D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bde582d-6c64-4529-9771-e7f9df342b04	8a82ccc3-d5f6-4647-9699-604814692936	g.chrX:125299264C>T	ENST00000360028.2	-	1	670	c.644G>A	c.(643-645)gGc>gAc	p.G215D	DCAF12L2_ENST00000538699.1_Missense_Mutation_p.G215D			Q5VW00	DC122_HUMAN	DDB1 and CUL4 associated factor 12-like 2	215										NS(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(36)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(3)	64						AGCCACGGTGCCGTCGCGGGA	0.642																																						ENST00000538699.1																			0				NS(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(36)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(3)	64						c.(643-645)gGc>gAc		DDB1 and CUL4 associated factor 12-like 2							38	41	40					X																	125299264		2203	4299	6502	SO:0001583	missense	340578							g.chrX:125299264C>T	AL445072	CCDS43991.1	Xq25	2013-01-09	2009-07-17	2009-07-17	ENSG00000198354	ENSG00000198354		"WD repeat domain containing"	32950	protein-coding gene	gene with protein product			"WD repeat domain 40C"	WDR40C			Standard	NM_001013628		Approved		uc004euk.2	Q5VW00	OTTHUMG00000022348	ENST00000360028.2:c.644G>A	X.37:g.125299264C>T	ENSP00000353128:p.Gly215Asp					DCAF12L2_ENST00000360028.2_Missense_Mutation_p.G215D	p.G215D	NM_001013628.2	NP_001013650.1	Q5VW00	DC122_HUMAN			2	724	-			215					B2RN42	Missense_Mutation	SNP	ENST00000360028.2	37	c.644G>A	CCDS43991.1	.	.	.	.	.	.	.	.	.	.	C	14.47	2.543622	0.45280	.	.	ENSG00000198354	ENST00000538699;ENST00000360028	T;T	0.65732	-0.17;-0.17	4.53	4.53	0.55603	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.34046	N	0.004318	T	0.76521	0.3999	M	0.76574	2.34	0.45914	D	0.998759	D	0.89917	1.0	D	0.97110	1.0	T	0.76887	-0.2793	10	0.42905	T	0.14	.	12.1893	0.54261	0.0:1.0:0.0:0.0	.	215	Q5VW00	DC122_HUMAN	D	215	ENSP00000441489:G215D;ENSP00000353128:G215D	ENSP00000353128:G215D	G	-	2	0	DCAF12L2	125126945	1.000000	0.71417	0.066000	0.19879	0.002000	0.02628	6.859000	0.75467	2.167000	0.68274	0.544000	0.68410	GGC		0.642	DCAF12L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058181.1	NM_001013628		10	22	0	0	0	1	0	10	22					T	125299264	C	T	125299264	3	4	318	1	0	0	0	0	1	0	0	0	4265	739	26	3	751	3	DCAF12L2	23	125299264	Missense_Mutation	SNP	C	TCGA-KK-A6E7-01A-11D-A31L-08		125299264	29971296	40	16339											
XPNPEP2	7512	broad.mit.edu	37	chrX	128901598	128901598	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gtacccagggagctacctgaCctttgaagtggtatcatttg	9	12	11	9	0	1	2	1	2	0	0	1	3	1	3	3	2	3	3	3	2	4	5			TCGA-KK-A6E7-01A-11D-A31L-08	TCGA-KK-A6E7-11A-11D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bde582d-6c64-4529-9771-e7f9df342b04	8a82ccc3-d5f6-4647-9699-604814692936	g.chrX:128901598C>G	ENST00000371106.3	+	20	1952	c.1760C>G	c.(1759-1761)aCc>aGc	p.T587S		NM_003399.5	NP_003390.4	O43895	XPP2_HUMAN	X-prolyl aminopeptidase (aminopeptidase P) 2, membrane-bound	587						anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	aminopeptidase activity (GO:0004177)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)			endometrium(3)|kidney(3)|large_intestine(5)|liver(1)|lung(20)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	37						AGCTACCTGACCTTTGAAGTG	0.567																																						ENST00000371106.3																			0				endometrium(3)|kidney(3)|large_intestine(5)|liver(1)|lung(20)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	37						c.(1759-1761)aCc>aGc		X-prolyl aminopeptidase (aminopeptidase P) 2, membrane-bound							225	152	177					X																	128901598		2203	4300	6503	SO:0001583	missense	7512				cellular process|proteolysis	anchored to membrane|plasma membrane	aminopeptidase activity|metal ion binding|metalloexopeptidase activity	g.chrX:128901598C>G	U90724	CCDS14613.1	Xq25	2008-02-05			ENSG00000122121	ENSG00000122121	3.4.11.9		12823	protein-coding gene	gene with protein product		300145				9375790, 9628831	Standard	NM_003399		Approved		uc004eut.1	O43895	OTTHUMG00000022373	ENST00000371106.3:c.1760C>G	X.37:g.128901598C>G	ENSP00000360147:p.Thr587Ser						p.T587S	NM_003399.5	NP_003390.4	O43895	XPP2_HUMAN			20	1952	+			587					A0AV16|O75994	Missense_Mutation	SNP	ENST00000371106.3	37	c.1760C>G	CCDS14613.1	.	.	.	.	.	.	.	.	.	.	C	19.60	3.857522	0.71834	.	.	ENSG00000122121	ENST00000371106	T	0.73789	-0.78	5.13	5.13	0.70059	Peptidase M24, structural domain (2);	0.149260	0.64402	D	0.000010	T	0.70710	0.3255	L	0.45470	1.425	0.33246	D	0.5579	P	0.47253	0.892	P	0.44732	0.459	T	0.80372	-0.1410	10	0.52906	T	0.07	-9.3877	12.654	0.56778	0.0:1.0:0.0:0.0	.	587	O43895	XPP2_HUMAN	S	587	ENSP00000360147:T587S	ENSP00000360147:T587S	T	+	2	0	XPNPEP2	128729279	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	5.173000	0.65010	2.383000	0.81215	0.529000	0.55759	ACC		0.567	XPNPEP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058210.1	NM_003399		54	17	0	0	0	1	0	54	17					G	128901598	C	G	128901598	3	3	318	1	0	0	0	0	1	0	0	0	17440	507	18	5	1838	5	XPNPEP2	23	128901598	Missense_Mutation	SNP	C	TCGA-KK-A6E7-01A-11D-A31L-08	3602334	128901598	26368962	41	16340											
TMCO4	255104	broad.mit.edu	37	chr1	20073664	20073664	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agctggactcaccgatcaccGttccgcctccgacagtcgcc	7	7	9	18	5	2	0	2	0	0	0	5	3	4	1	6	1	1	2	6	1	0	1	rs146596460		TCGA-KK-A6E8-01A-11D-A31L-08	TCGA-KK-A6E8-11A-11D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ea4c81-9106-43af-b2ce-2352d6fd4978	f79ad5e5-cf51-49cb-aafb-2c6ab3448ecc	g.chr1:20073664G>A	ENST00000294543.6	-	8	846	c.605C>T	c.(604-606)aCg>aTg	p.T202M	TMCO4_ENST00000375127.1_Missense_Mutation_p.T202M|TMCO4_ENST00000375122.2_Missense_Mutation_p.T202M	NM_181719.4	NP_859070.3	Q5TGY1	TMCO4_HUMAN	transmembrane and coiled-coil domains 4	202						integral component of membrane (GO:0016021)				biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|lung(11)|skin(1)|upper_aerodigestive_tract(1)	19		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00519)|Breast(348;0.00526)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00708)|COAD - Colon adenocarcinoma(152;2.28e-05)|BRCA - Breast invasive adenocarcinoma(304;5.8e-05)|Kidney(64;0.000367)|GBM - Glioblastoma multiforme(114;0.000377)|KIRC - Kidney renal clear cell carcinoma(64;0.00459)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0862)|Lung(427;0.223)		ACCGATCACCGTTCCGCCTCC	0.547																																						ENST00000294543.6																			0				biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|lung(11)|skin(1)|upper_aerodigestive_tract(1)	19						c.(604-606)aCg>aTg		transmembrane and coiled-coil domains 4		G	MET/THR	0,4406		0,0,2203	281	290	287		605	5.3	0.9	1	dbSNP_134	287	1,8599	1.2+/-3.3	0,1,4299	no	missense	TMCO4	NM_181719.4	81	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	202/635	20073664	1,13005	2203	4300	6503	SO:0001583	missense	255104					integral to membrane		g.chr1:20073664G>A		CCDS198.1	1p36.13	2008-02-05			ENSG00000162542	ENSG00000162542			27393	protein-coding gene	gene with protein product							Standard	NM_181719		Approved	DKFZp686C23231	uc001bcn.3	Q5TGY1	OTTHUMG00000002697	ENST00000294543.6:c.605C>T	1.37:g.20073664G>A	ENSP00000294543:p.Thr202Met					TMCO4_ENST00000375122.2_Missense_Mutation_p.T202M|TMCO4_ENST00000375127.1_Missense_Mutation_p.T202M	p.T202M	NM_181719.4	NP_859070.3	Q5TGY1	TMCO4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00708)|COAD - Colon adenocarcinoma(152;2.28e-05)|BRCA - Breast invasive adenocarcinoma(304;5.8e-05)|Kidney(64;0.000367)|GBM - Glioblastoma multiforme(114;0.000377)|KIRC - Kidney renal clear cell carcinoma(64;0.00459)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0862)|Lung(427;0.223)	8	846	-		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00519)|Breast(348;0.00526)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)	202					Q5TGY2|Q6MZN5|Q7Z6K6|Q9UQP4|Q9Y3K1	Missense_Mutation	SNP	ENST00000294543.6	37	c.605C>T	CCDS198.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.146070	0.77888	0.0	1.16E-4	ENSG00000162542	ENST00000294543;ENST00000375127;ENST00000375122	T;T;T	0.44083	0.93;0.93;0.93	5.31	5.31	0.75309	.	0.000000	0.85682	D	0.000000	T	0.65984	0.2744	M	0.76838	2.35	0.49213	D	0.999767	D;D	0.89917	1.0;1.0	D;D	0.79784	0.993;0.988	T	0.68800	-0.5313	10	0.56958	D	0.05	-5.9679	16.5105	0.84283	0.0:0.0:1.0:0.0	.	202;202	Q5TGY1;Q5TGY1-2	TMCO4_HUMAN;.	M	202	ENSP00000294543:T202M;ENSP00000364269:T202M;ENSP00000364264:T202M	ENSP00000294543:T202M	T	-	2	0	TMCO4	19946251	1.000000	0.71417	0.885000	0.34714	0.668000	0.39293	8.444000	0.90323	2.484000	0.83849	0.655000	0.94253	ACG		0.547	TMCO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007658.1	NM_181719		229	317	0	0	0	1	0	229	317					A	20073664	G	A	20073664	3	1	319	1	0	0	0	0	1	0	0	0	15995	1145	40	1	1335	1	TMCO4	1	20073664	Missense_Mutation	SNP	G	TCGA-KK-A6E8-01A-11D-A31L-08		20073664	229176957	1	16341											
EFCAB7	84455	broad.mit.edu	37	chr1	63999809	63999809	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcagcaaccaggaagttcaaAacatctgtttccttcacagt	13	11	6	11	0	4	0	3	0	1	0	5	1	5	1	2	1	3	3	2	1	4	3			TCGA-KK-A6E8-01A-11D-A31L-08	TCGA-KK-A6E8-11A-11D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ea4c81-9106-43af-b2ce-2352d6fd4978	f79ad5e5-cf51-49cb-aafb-2c6ab3448ecc	g.chr1:63999809A>T	ENST00000371088.4	+	6	972	c.726A>T	c.(724-726)aaA>aaT	p.K242N	RNU7-123P_ENST00000515911.1_RNA	NM_032437.2	NP_115813.2	A8K855	EFCB7_HUMAN	EF-hand calcium binding domain 7	242							calcium ion binding (GO:0005509)			breast(1)|endometrium(4)|large_intestine(4)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	19						GGAAGTTCAAAACATCTGTTT	0.363																																						ENST00000371088.4																			0				breast(1)|endometrium(4)|large_intestine(4)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	19						c.(724-726)aaA>aaT		EF-hand calcium binding domain 7							115	112	113					1																	63999809		2203	4300	6503	SO:0001583	missense	84455						calcium ion binding	g.chr1:63999809A>T	BC015814	CCDS30737.1	1p31.3	2013-01-10			ENSG00000203965	ENSG00000203965		"EF-hand domain containing"	29379	protein-coding gene	gene with protein product						11347906	Standard	NM_032437		Approved	KIAA1799, RP4-534K7.1	uc001dbf.3	A8K855	OTTHUMG00000008983	ENST00000371088.4:c.726A>T	1.37:g.63999809A>T	ENSP00000360129:p.Lys242Asn						p.K242N	NM_032437.2	NP_115813.2	A8K855	EFCB7_HUMAN			6	972	+			242					Q658P0|Q96B95|Q96JM6	Missense_Mutation	SNP	ENST00000371088.4	37	c.726A>T	CCDS30737.1	.	.	.	.	.	.	.	.	.	.	A	13.18	2.159941	0.38119	.	.	ENSG00000203965	ENST00000371088	T	0.62364	0.03	5.65	4.49	0.54785	.	0.093898	0.64402	D	0.000001	T	0.43122	0.1233	L	0.56769	1.78	0.80722	D	1	P	0.38922	0.651	B	0.38428	0.273	T	0.46484	-0.9188	10	0.51188	T	0.08	-18.4101	9.8132	0.40835	0.9211:0.0:0.0789:0.0	.	242	A8K855	EFCB7_HUMAN	N	242	ENSP00000360129:K242N	ENSP00000360129:K242N	K	+	3	2	EFCAB7	63772397	1.000000	0.71417	1.000000	0.80357	0.795000	0.44927	4.285000	0.58989	0.925000	0.37094	0.533000	0.62120	AAA		0.363	EFCAB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024910.1	NM_032437		17	58	0	0	0	1	0	17	58					T	63999809	A	T	63999809	3	4	319	1	0	0	0	0	1	0	0	0	4940	11	1	5	744	5	EFCAB7	1	63999809	Missense_Mutation	SNP	A	TCGA-KK-A6E8-01A-11D-A31L-08	43926145	63999809	185250812	2	16342											
GBP3	2635	broad.mit.edu	37	chr1	89479884	89479885	+	Frame_Shift_Del	DEL	AA	AA	-																															aaatctgggaagaagctcacAaagtcagctgaatcctcatt																										TCGA-KK-A6E8-01A-11D-A31L-08	TCGA-KK-A6E8-11A-11D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ea4c81-9106-43af-b2ce-2352d6fd4978	f79ad5e5-cf51-49cb-aafb-2c6ab3448ecc	g.chr1:89479884_89479885delAA	ENST00000370481.4	-	5	726_727	c.506_507delTT	c.(505-507)tttfs	p.F169fs	GBP3_ENST00000475853.2_5'Flank	NM_018284.2	NP_060754.2	Q8WXF7	ATLA1_HUMAN	guanylate binding protein 3	205	GB1/RHD3-type G.				axonogenesis (GO:0007409)|cell death (GO:0008219)|endoplasmic reticulum organization (GO:0007029)|GTP catabolic process (GO:0006184)|protein homooligomerization (GO:0051260)	cell projection (GO:0042995)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|Golgi cis cisterna (GO:0000137)|integral component of membrane (GO:0016021)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)			breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	26		Lung NSC(277;0.123)		all cancers(265;0.0103)|Epithelial(280;0.0293)		AGAAGCTCACAAAGTCAGCTGA	0.455																																						ENST00000370481.4																			0				breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	26						c.(505-507)tfs		guanylate binding protein 3																																				SO:0001589	frameshift_variant	2635					integral to membrane	GTP binding|GTPase activity	g.chr1:89479884_89479885delAA	BC063819	CCDS717.2	1p22.2	2008-02-05			ENSG00000117226	ENSG00000117226			4184	protein-coding gene	gene with protein product		600413				7518790	Standard	NM_018284		Approved	FLJ10961	uc001dmt.3	Q9H0R5	OTTHUMG00000010616	ENST00000370481.4:c.506_507delTT	1.37:g.89479884_89479885delAA	ENSP00000359512:p.Phe169fs						p.F169fs	NM_018284.2	NP_060754.2	Q9H0R5	GBP3_HUMAN		all cancers(265;0.0103)|Epithelial(280;0.0293)	5	726_727	-		Lung NSC(277;0.123)	169					A6NND5|A8K2C0|G5E9T1|O95890|Q69YH7|Q96FK0	Frame_Shift_Del	DEL	ENST00000370481.4	37	c.506_507delTT	CCDS717.2																																																																																				0.455	GBP3-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313541.3	NM_018284		32	58						32	58	---	---	---	---	-	89479885	AA	-	89479884	7	5	319	1	0	1	0	1	0	0	0	0	6275	127	5	0	1308	0	GBP3	1	89479884	Frame_Shift_Del	DEL	AA	TCGA-KK-A6E8-01A-11D-A31L-08	25480075	89479884	159770737	3	16343											
ZNF326	284695	broad.mit.edu	37	chr1	90482961	90482961	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	tggaaagttcttcacatcagGaaacattagatcatatacag	16	11	7	7	0	4	1	3	0	1	1	4	3	4	3	0	2	2	1	0	2	5	5			TCGA-KK-A6E8-01A-11D-A31L-08	TCGA-KK-A6E8-11A-11D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ea4c81-9106-43af-b2ce-2352d6fd4978	f79ad5e5-cf51-49cb-aafb-2c6ab3448ecc	g.chr1:90482961G>C	ENST00000340281.4	+	8	1155	c.1012G>C	c.(1012-1014)Gaa>Caa	p.E338Q	ZNF326_ENST00000455342.2_Missense_Mutation_p.E132Q|ZNF326_ENST00000370447.3_Missense_Mutation_p.E249Q	NM_182976.2	NP_892021.1	Q5BKZ1	ZN326_HUMAN	zinc finger protein 326	338					mRNA processing (GO:0006397)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of DNA-templated transcription, elongation (GO:0032784)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	DBIRD complex (GO:0044609)|nuclear matrix (GO:0016363)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|RNA polymerase II core binding (GO:0000993)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(7)|ovary(1)	25		all_lung(203;0.0116)|Lung NSC(277;0.0417)		all cancers(265;0.00728)|Epithelial(280;0.0265)		TTCACATCAGGAAACATTAGA	0.294																																						ENST00000340281.4																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(7)|ovary(1)	25						c.(1012-1014)Gaa>Caa		zinc finger protein 326							64	65	65					1																	90482961		2201	4292	6493	SO:0001583	missense	284695				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear matrix	DNA binding	g.chr1:90482961G>C	BC013102	CCDS727.1, CCDS728.1	1p22	2012-04-19			ENSG00000162664	ENSG00000162664		"Zinc fingers, C2H2-type"	14104	protein-coding gene	gene with protein product	"ZNF-protein interacting with nuclear mRNPs and DBC1"	614601				22446626	Standard	NM_182976		Approved	Zfp326, ZAN75, FLJ20403, ZIRD	uc001dnq.2	Q5BKZ1	OTTHUMG00000010675	ENST00000340281.4:c.1012G>C	1.37:g.90482961G>C	ENSP00000340796:p.Glu338Gln					ZNF326_ENST00000370447.2_Missense_Mutation_p.E249Q|ZNF326_ENST00000455342.2_Missense_Mutation_p.E132Q	p.E338Q	NM_182976.2	NP_892021.1	Q5BKZ1	ZN326_HUMAN		all cancers(265;0.00728)|Epithelial(280;0.0265)	8	1155	+		all_lung(203;0.0116)|Lung NSC(277;0.0417)	338					A8MYX1|B4DLN0|B4E179|Q5VW93|Q5VW94|Q5VW96|Q5VW97|Q6NSA2|Q7Z638|Q7Z6C2	Missense_Mutation	SNP	ENST00000340281.4	37	c.1012G>C	CCDS727.1	.	.	.	.	.	.	.	.	.	.	G	24.7	4.556040	0.86231	.	.	ENSG00000162664	ENST00000394590;ENST00000340281;ENST00000370447;ENST00000455342	T;T;T	0.57595	0.39;0.39;0.39	5.48	5.48	0.80851	.	0.054916	0.64402	D	0.000001	T	0.63698	0.2533	M	0.66939	2.045	0.51767	D	0.99993	D;D	0.61080	0.989;0.989	P;P	0.59424	0.857;0.857	T	0.66889	-0.5809	10	0.72032	D	0.01	-9.5829	19.3839	0.94548	0.0:0.0:1.0:0.0	.	338;338	A8MYX1;Q5BKZ1	.;ZN326_HUMAN	Q	338;338;249;132	ENSP00000340796:E338Q;ENSP00000359476:E249Q;ENSP00000403470:E132Q	ENSP00000340796:E338Q	E	+	1	0	ZNF326	90255549	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.786000	0.85741	2.578000	0.87016	0.650000	0.86243	GAA		0.294	ZNF326-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029428.2	NM_181781		11	15	0	0	0	1	0	11	15					C	90482961	G	C	90482961	3	2	319	1	0	0	0	0	1	0	0	0	17843	1175	41	5	1046	5	ZNF326	1	90482961	Missense_Mutation	SNP	G	TCGA-KK-A6E8-01A-11D-A31L-08	1003077	90482961	158767660	4	16344											
WDR3	10885	broad.mit.edu	37	chr1	118479418	118479418	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatattattgtatgggatgtGatcaatgaaagtggtctgta	12	15	12	2	0	2	2	1	2	1	0	2	4	2	3	0	2	0	2	0	2	6	5			TCGA-KK-A6E8-01A-11D-A31L-08	TCGA-KK-A6E8-11A-11D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ea4c81-9106-43af-b2ce-2352d6fd4978	f79ad5e5-cf51-49cb-aafb-2c6ab3448ecc	g.chr1:118479418G>T	ENST00000349139.5	+	4	455	c.408G>T	c.(406-408)gtG>gtT	p.V136V	WDR3_ENST00000471680.1_3'UTR|WDR3_ENST00000369441.3_3'UTR	NM_006784.2	NP_006775.1	Q9UNX4	WDR3_HUMAN	WD repeat domain 3	136						nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(9)|liver(2)|lung(22)|prostate(2)|upper_aerodigestive_tract(1)	49	Esophageal squamous(2;0.162)	all_cancers(81;2.72e-05)|Acute lymphoblastic leukemia(138;1e-08)|all_epithelial(167;4.4e-07)|all_lung(203;1.7e-06)|Lung NSC(69;1.98e-05)|Prostate(1639;0.00955)|Breast(1374;0.244)		OV - Ovarian serous cystadenocarcinoma(397;1.39e-08)|Epithelial(280;1.82e-07)|all cancers(265;2.04e-05)|Lung(183;0.0525)|BRCA - Breast invasive adenocarcinoma(282;0.0695)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.185)		TATGGGATGTGATCAATGAAA	0.368																																						ENST00000349139.4																			0				breast(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(9)|liver(2)|lung(22)|prostate(2)|upper_aerodigestive_tract(1)	49						c.(406-408)gtG>gtT		WD repeat domain 3							114	110	112					1																	118479418		2203	4300	6503	SO:0001819	synonymous_variant	10885					nuclear membrane|nucleolus		g.chr1:118479418G>T	AF083217	CCDS898.1	1p12	2013-01-09			ENSG00000065183	ENSG00000065183		"WD repeat domain containing"	12755	protein-coding gene	gene with protein product		604737				10395803	Standard	NM_006784		Approved	FLJ12796, UTP12, DIP2	uc010oxe.1	Q9UNX4	OTTHUMG00000012197	ENST00000349139.5:c.408G>T	1.37:g.118479418G>T						WDR3_ENST00000471680.1_3'UTR|WDR3_ENST00000369441.3_3'UTR	p.V136V	NM_006784.2	NP_006775.1	Q9UNX4	WDR3_HUMAN		OV - Ovarian serous cystadenocarcinoma(397;1.39e-08)|Epithelial(280;1.82e-07)|all cancers(265;2.04e-05)|Lung(183;0.0525)|BRCA - Breast invasive adenocarcinoma(282;0.0695)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.185)	4	455	+	Esophageal squamous(2;0.162)	all_cancers(81;2.72e-05)|Acute lymphoblastic leukemia(138;1e-08)|all_epithelial(167;4.4e-07)|all_lung(203;1.7e-06)|Lung NSC(69;1.98e-05)|Prostate(1639;0.00955)|Breast(1374;0.244)	136						Silent	SNP	ENST00000349139.5	37	c.408G>T	CCDS898.1																																																																																				0.368	WDR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033720.2	NM_006784		21	26	1	0	2.98393e-07	1	3.25035e-07	21	26					T	118479418	G	T	118479418	2	4	319	1	0	0	0	0	0	0	0	1	17282	1277	45	5		5	WDR3	1	118479418	Silent	SNP	G	TCGA-KK-A6E8-01A-11D-A31L-08	27996457	118479418	130771203	5	16345											
HMCN1	83872	broad.mit.edu	37	chr1	186056762	186056762	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgatggacaaatgctacaCattaagaaagctgaggtgca	15	8	11	7	0	0	3	0	2	0	1	0	4	0	4	0	2	4	4	0	2	4	2	rs571746652		TCGA-KK-A6E8-01A-11D-A31L-08	TCGA-KK-A6E8-11A-11D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ea4c81-9106-43af-b2ce-2352d6fd4978	f79ad5e5-cf51-49cb-aafb-2c6ab3448ecc	g.chr1:186056762C>T	ENST00000271588.4	+	60	9577	c.9348C>T	c.(9346-9348)caC>caT	p.H3116H	HMCN1_ENST00000367492.2_Silent_p.H3116H	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	3116	Ig-like C2-type 29.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						AAATGCTACACATTAAGAAAG	0.438													C|||	1	0.000199681	8e-04	0	5008	,	,		11333	0		0	False		,,,				2504	0					ENST00000271588.4																			0				NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						c.(9346-9348)caC>caT		hemicentin 1							101	100	100					1																	186056762		2202	4299	6501	SO:0001819	synonymous_variant	83872				response to stimulus|visual perception	basement membrane	calcium ion binding	g.chr1:186056762C>T	AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"Fibulins", "Immunoglobulin superfamily / I-set domain containing"	19194	protein-coding gene	gene with protein product	"fibulin 6"	608548	"age-related macular degeneration 1 (senile macular degeneration)"	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.9348C>T	1.37:g.186056762C>T						HMCN1_ENST00000367492.2_Silent_p.H3116H	p.H3116H	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN			60	9577	+			3116			Ig-like C2-type 29.		A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Silent	SNP	ENST00000271588.4	37	c.9348C>T	CCDS30956.1																																																																																				0.438	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935		50	46	0	0	0	1	0	50	46					T	186056762	C	T	186056762	2	4	319	1	0	0	0	0	0	0	0	1	7220	477	17	3		3	HMCN1	1	186056762	Silent	SNP	C	TCGA-KK-A6E8-01A-11D-A31L-08	67577344	186056762	63193859	6	16346											
CD34	947	broad.mit.edu	37	chr1	208062820	208062820	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgcaccttacctgttctgttGgccaagaccagcagtagaca	10	10	9	12	0	1	2	0	0	1	2	1	2	1	2	4	1	3	5	4	1	3	4			TCGA-KK-A6E8-01A-11D-A31L-08	TCGA-KK-A6E8-11A-11D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ea4c81-9106-43af-b2ce-2352d6fd4978	f79ad5e5-cf51-49cb-aafb-2c6ab3448ecc	g.chr1:208062820G>A	ENST00000310833.7	-	5	1065	c.744C>T	c.(742-744)gcC>gcT	p.A248A	CD34_ENST00000537704.1_Silent_p.A113A|CD34_ENST00000367036.3_Silent_p.A90A|CD34_ENST00000485761.1_5'UTR|CD34_ENST00000356522.4_Silent_p.A248A	NM_001025109.1	NP_001020280.1	P28906	CD34_HUMAN	CD34 molecule	248					cell motility (GO:0048870)|cell proliferation (GO:0008283)|endothelial cell proliferation (GO:0001935)|endothelium development (GO:0003158)|extracellular vesicular exosome assembly (GO:0071971)|glomerular endothelium development (GO:0072011)|glomerular filtration (GO:0003094)|glutamate metabolic process (GO:0006536)|hematopoietic stem cell proliferation (GO:0071425)|hemopoiesis (GO:0030097)|leukocyte migration (GO:0050900)|mesangial cell-matrix adhesion (GO:0035759)|metanephric glomerular mesangial cell differentiation (GO:0072254)|negative regulation of blood coagulation (GO:0030195)|negative regulation of cellular response to heat (GO:1900035)|negative regulation of cellular response to hypoxia (GO:1900038)|negative regulation of gene expression (GO:0010629)|negative regulation of interleukin-2 secretion (GO:1900041)|negative regulation of neuron death (GO:1901215)|negative regulation of nitric oxide biosynthetic process (GO:0045019)|negative regulation of tumor necrosis factor production (GO:0032720)|paracrine signaling (GO:0038001)|positive regulation of angiogenesis (GO:0045766)|positive regulation of gene expression (GO:0010628)|positive regulation of glial cell line-derived neurotrophic factor secretion (GO:1900168)|positive regulation of granulocyte colony-stimulating factor production (GO:0071657)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of odontogenesis (GO:0042482)|positive regulation of transforming growth factor beta production (GO:0071636)|positive regulation of vasculogenesis (GO:2001214)|regulation of blood pressure (GO:0008217)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|stem cell proliferation (GO:0072089)|tissue homeostasis (GO:0001894)|transdifferentiation (GO:0060290)|vascular wound healing (GO:0061042)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|glomerular endothelium fenestra (GO:0036053)|integral component of plasma membrane (GO:0005887)|intercellular bridge (GO:0045171)|lysosome (GO:0005764)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|sulfate binding (GO:0043199)|transcription factor binding (GO:0008134)			kidney(2)|large_intestine(2)|lung(8)|ovary(1)	13						CTGTTCTGTTGGCCAAGACCA	0.592																																						ENST00000356522.4																			0				kidney(2)|large_intestine(2)|lung(8)|ovary(1)	13						c.(742-744)gcC>gcT		CD34 molecule							63	57	59					1																	208062820		2203	4300	6503	SO:0001819	synonymous_variant	947				cell-cell adhesion|leukocyte migration|regulation of immune response	integral to membrane	carbohydrate binding	g.chr1:208062820G>A	M81104	CCDS31011.1, CCDS31012.1	1q32	2008-02-05	2006-03-28		ENSG00000174059	ENSG00000174059		"CD molecules"	1662	protein-coding gene	gene with protein product		142230	"CD34 antigen"			1370171, 1374051	Standard	NM_001025109		Approved		uc001hgw.1	P28906	OTTHUMG00000036565	ENST00000310833.7:c.744C>T	1.37:g.208062820G>A						CD34_ENST00000485761.1_5'UTR|CD34_ENST00000537704.1_Silent_p.A113A|CD34_ENST00000367036.3_Silent_p.A90A|CD34_ENST00000310833.7_Silent_p.A248A	p.A248A	NM_001773.2	NP_001764.1	P28906	CD34_HUMAN			5	1065	-			248					A8K664|Q15970|Q15971|Q5JTA3|Q5JTA4|Q9UJB1	Silent	SNP	ENST00000310833.7	37	c.744C>T	CCDS31011.1																																																																																				0.592	CD34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088933.1	NM_001773		8	8	0	0	0	1	0	8	8					A	208062820	G	A	208062820	2	1	319	1	0	0	0	0	0	0	0	1	3006	1335	47	3		3	CD34	1	208062820	Silent	SNP	G	TCGA-KK-A6E8-01A-11D-A31L-08	22006058	208062820	41187801	7	16347											
MIA3	375056	broad.mit.edu	37	chr1	222805661	222805661	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccaaatactgagaaagacctGgacccaggtaaagcctgcta	15	6	9	11	0	0	2	0	1	0	2	0	4	0	3	4	2	3	2	4	2	6	3			TCGA-KK-A6E8-01A-11D-A31L-08	TCGA-KK-A6E8-11A-11D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ea4c81-9106-43af-b2ce-2352d6fd4978	f79ad5e5-cf51-49cb-aafb-2c6ab3448ecc	g.chr1:222805661G>C	ENST00000344922.5	+	5	3349	c.3324G>C	c.(3322-3324)ctG>ctC	p.L1108L	MIA3_ENST00000470521.1_3'UTR|MIA3_ENST00000344441.6_Silent_p.L1108L|MIA3_ENST00000344507.1_Intron	NM_198551.2	NP_940953.2	Q5JRA6	MIA3_HUMAN	melanoma inhibitory activity family, member 3	1108					chondrocyte development (GO:0002063)|collagen fibril organization (GO:0030199)|exocytosis (GO:0006887)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell migration (GO:0030336)|positive regulation of bone mineralization (GO:0030501)|positive regulation of leukocyte migration (GO:0002687)|protein transport (GO:0015031)|wound healing (GO:0042060)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(5)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(15)|lung(37)|ovary(5)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|urinary_tract(1)	80				GBM - Glioblastoma multiforme(131;0.0199)		AGAAAGACCTGGACCCAGGTA	0.458																																						ENST00000344922.5																			0				breast(5)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(15)|lung(37)|ovary(5)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|urinary_tract(1)	80						c.(3322-3324)ctG>ctC		melanoma inhibitory activity family, member 3							80	76	77					1																	222805661		1858	4082	5940	SO:0001819	synonymous_variant	375056				exocytosis|negative regulation of cell adhesion|negative regulation of cell migration|positive regulation of leukocyte migration|protein transport|wound healing	endoplasmic reticulum membrane|integral to membrane	protein binding	g.chr1:222805661G>C		CCDS41470.1, CCDS73035.1	1p36.33	2012-12-13		2006-07-25	ENSG00000154305	ENSG00000154305			24008	protein-coding gene	gene with protein product	"C219 reactive peptide", "transport and golgi organization"	613455				15183315	Standard	XM_005273121		Approved	UNQ6077, FLJ39207, KIAA0268, TANGO	uc001hnl.3	Q5JRA6	OTTHUMG00000037543	ENST00000344922.5:c.3324G>C	1.37:g.222805661G>C						MIA3_ENST00000470521.1_3'UTR|MIA3_ENST00000344441.6_Silent_p.L1108L|MIA3_ENST00000344507.1_Intron	p.L1108L	NM_198551.2	NP_940953.2	Q5JRA6	MIA3_HUMAN		GBM - Glioblastoma multiforme(131;0.0199)	5	3349	+			1108					A8K2S0|A8MT05|A8MT13|B7Z430|Q14083|Q3S4X3|Q5JRA5|Q5JRB0|Q5JRB1|Q5JRB2|Q6UVY8|Q86Y60|Q8N8M5|Q92580	Silent	SNP	ENST00000344922.5	37	c.3324G>C	CCDS41470.1	.	.	.	.	.	.	.	.	.	.	G	2.313	-0.357353	0.05138	.	.	ENSG00000154305	ENST00000354906	.	.	.	3.81	1.4	0.22301	.	.	.	.	.	T	0.21801	0.0525	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.21381	-1.0247	4	.	.	.	.	2.1813	0.03875	0.5978:0.0:0.1527:0.2495	.	.	.	.	R	691	.	.	G	+	1	0	MIA3	220872284	0.001000	0.12720	0.010000	0.14722	0.080000	0.17528	0.420000	0.21263	0.278000	0.22164	0.557000	0.71058	GGA		0.458	MIA3-001	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000091489.4	NM_198551		8	75	0	0	0	1	0	8	75					C	222805661	G	C	222805661	2	2	319	1	0	0	0	0	0	0	0	1	9565	1335	47	5		5	MIA3	1	222805661	Silent	SNP	G	TCGA-KK-A6E8-01A-11D-A31L-08	14742841	222805661	26444960	8	16348											
RAD51AP2	729475	broad.mit.edu	37	chr2	17699517	17699517	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tttttccgcctcagacaagcGaggcaccagaggcagtcgcc	9	7	11	14	3	1	2	1	0	0	2	3	3	2	2	4	2	1	2	4	2	1	2	rs549850726		TCGA-KK-A6E8-01A-11D-A31L-08	TCGA-KK-A6E8-11A-11D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ea4c81-9106-43af-b2ce-2352d6fd4978	f79ad5e5-cf51-49cb-aafb-2c6ab3448ecc	g.chr2:17699517G>A	ENST00000399080.2	-	1	189	c.166C>T	c.(166-168)Cgc>Tgc	p.R56C		NM_001099218.2	NP_001092688.1	Q09MP3	R51A2_HUMAN	RAD51 associated protein 2	56										endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(10)|liver(1)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					TCAGACAAGCGAGGCACCAGA	0.552																																						ENST00000399080.2																			0				endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(10)|liver(1)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						c.(166-168)Cgc>Tgc		RAD51 associated protein 2							74	78	76					2																	17699517		1901	4105	6006	SO:0001583	missense	729475							g.chr2:17699517G>A	AK310498	CCDS42656.1	2p24.2	2009-01-13			ENSG00000214842	ENSG00000214842			34417	protein-coding gene	gene with protein product						16990250	Standard	NM_001099218		Approved	FLJ17540	uc002rcl.1	Q09MP3	OTTHUMG00000151761	ENST00000399080.2:c.166C>T	2.37:g.17699517G>A	ENSP00000382030:p.Arg56Cys						p.R56C	NM_001099218.2	NP_001092688.1	Q09MP3	R51A2_HUMAN			1	189	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)		56						Missense_Mutation	SNP	ENST00000399080.2	37	c.166C>T	CCDS42656.1	.	.	.	.	.	.	.	.	.	.	G	9.141	1.013849	0.19277	.	.	ENSG00000214842	ENST00000399080	T	0.38560	1.13	3.52	2.64	0.31445	.	.	.	.	.	T	0.21841	0.0526	N	0.17082	0.46	0.33328	D	0.56821	P	0.36599	0.56	B	0.27262	0.078	T	0.33471	-0.9867	9	0.87932	D	0	0.1839	6.9284	0.24428	0.1264:0.0:0.8736:0.0	.	56	Q09MP3	R51A2_HUMAN	C	56	ENSP00000382030:R56C	ENSP00000382030:R56C	R	-	1	0	RAD51AP2	17562998	1.000000	0.71417	0.998000	0.56505	0.138000	0.21146	1.494000	0.35616	1.065000	0.40693	0.591000	0.81541	CGC		0.552	RAD51AP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323801.3	NM_001099218		8	102	0	0	0	1	0	8	102					A	17699517	G	A	17699517	3	1	319	1	0	0	0	0	1	0	0	0	12987	1058	37	2	3325	2	RAD51AP2	2	17699517	Missense_Mutation	SNP	G	TCGA-KK-A6E8-01A-11D-A31L-08		17699517	225499856	9	16349											
RHOB	388	broad.mit.edu	37	chr2	20647434	20647434	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aggaggactacgaccgcctgCggccgctctcctacccggac	7	5	12	17	5	1	0	0	0	1	0	2	4	1	3	5	4	3	1	5	4	2	2			TCGA-KK-A6E8-01A-11D-A31L-08	TCGA-KK-A6E8-11A-11D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ea4c81-9106-43af-b2ce-2352d6fd4978	f79ad5e5-cf51-49cb-aafb-2c6ab3448ecc	g.chr2:20647434C>T	ENST00000272233.4	+	1	600	c.208C>T	c.(208-210)Cgg>Tgg	p.R70W		NM_004040.2	NP_004031.1	P62745	RHOB_HUMAN	ras homolog family member B	70					angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to ionizing radiation (GO:0071479)|cytokinesis (GO:0000910)|endosome to lysosome transport (GO:0008333)|GTP catabolic process (GO:0006184)|negative regulation of cell cycle (GO:0045786)|platelet activation (GO:0030168)|positive regulation of angiogenesis (GO:0045766)|positive regulation of apoptotic process (GO:0043065)|protein transport (GO:0015031)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)|transformed cell apoptotic process (GO:0006927)	cleavage furrow (GO:0032154)|cytosol (GO:0005829)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)			breast(1)|kidney(1)|lung(2)|ovary(1)|urinary_tract(2)	7	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)	all_epithelial(98;4.19e-09)|Lung NSC(108;0.00452)|Ovarian(717;0.0164)		OV - Ovarian serous cystadenocarcinoma(76;1.14e-22)|Epithelial(75;7.84e-19)	Botulinum Toxin Type A(DB00083)	CGACCGCCTGCGGCCGCTCTC	0.647																																						ENST00000272233.4																			0				breast(1)|kidney(1)|lung(2)|ovary(1)|urinary_tract(2)	7						c.(208-210)Cgg>Tgg		ras homolog family member B							60	73	68					2																	20647434		2203	4300	6503	SO:0001583	missense	388				angiogenesis|axon guidance|cell adhesion|endosome to lysosome transport|negative regulation of cell cycle|platelet activation|positive regulation of angiogenesis|protein transport|regulation of small GTPase mediated signal transduction|Rho protein signal transduction|transformed cell apoptosis	cytosol|late endosome membrane|nucleus|plasma membrane	GTP binding|GTPase activity|protein binding	g.chr2:20647434C>T		CCDS1699.1	2p24	2012-02-27	2012-02-27	2004-03-24	ENSG00000143878	ENSG00000143878			668	protein-coding gene	gene with protein product	"oncogene RHO H6"	165370	"ras homolog gene family, member B"	ARH6, ARHB		3283705, 16278215	Standard	NM_004040		Approved	RhoB, RHOH6, MST081	uc002rdv.3	P62745	OTTHUMG00000090755	ENST00000272233.4:c.208C>T	2.37:g.20647434C>T	ENSP00000272233:p.Arg70Trp						p.R70W	NM_004040.2	NP_004031.1	P62745	RHOB_HUMAN		OV - Ovarian serous cystadenocarcinoma(76;1.14e-22)|Epithelial(75;7.84e-19)	1	600	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)	all_epithelial(98;4.19e-09)|Lung NSC(108;0.00452)|Ovarian(717;0.0164)	70					B2R692|P01121|Q5U0H6|Q7RTN5|Q7RTR9|Q9CUV7	Missense_Mutation	SNP	ENST00000272233.4	37	c.208C>T	CCDS1699.1	.	.	.	.	.	.	.	.	.	.	C	13.29	2.191729	0.38707	.	.	ENSG00000143878	ENST00000272233	T	0.71103	-0.54	5.38	1.45	0.22620	Small GTP-binding protein domain (1);	0.072909	0.56097	U	0.000035	D	0.87180	0.6113	H	0.97940	4.11	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.83831	0.0252	10	0.87932	D	0	-11.4231	6.0316	0.19683	0.2505:0.5634:0.1207:0.0654	.	70	P62745	RHOB_HUMAN	W	70	ENSP00000272233:R70W	ENSP00000272233:R70W	R	+	1	2	RHOB	20510915	1.000000	0.71417	0.994000	0.49952	0.003000	0.03518	4.680000	0.61656	0.058000	0.16222	-1.097000	0.02148	CGG		0.647	RHOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207500.1	NM_004040		7	80	0	0	0	1	0	7	80					T	20647434	C	T	20647434	3	4	319	1	0	0	0	0	1	0	0	0	13332	759	27	1	210	1	RHOB	2	20647434	Missense_Mutation	SNP	C	TCGA-KK-A6E8-01A-11D-A31L-08	2947917	20647434	222551939	10	16350											
RBKS	64080	broad.mit.edu	37	chr2	28070964	28070964	+	Splice_Site	DEL	C	C	-																															gccaaaagaatctttgccaaCctgtaccaaagaaataatga																										TCGA-KK-A6E8-01A-11D-A31L-08	TCGA-KK-A6E8-11A-11D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ea4c81-9106-43af-b2ce-2352d6fd4978	f79ad5e5-cf51-49cb-aafb-2c6ab3448ecc	g.chr2:28070964delC	ENST00000302188.3	-	3	975	c.223delG	c.(223-225)gtt>tt	p.V75fs	RBKS_ENST00000444339.2_Splice_Site_p.V75fs	NM_022128.1	NP_071411.1	Q9H477	RBSK_HUMAN	ribokinase	75					D-ribose catabolic process (GO:0019303)	extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|ribokinase activity (GO:0004747)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	7	Acute lymphoblastic leukemia(172;0.155)					TCTTTGCCAACCTGTACCAAA	0.279																																						ENST00000302188.3																			0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	7						c.e3-1		ribokinase							26	29	28					2																	28070964		2175	4278	6453	SO:0001630	splice_region_variant	64080				D-ribose metabolic process		ATP binding|ribokinase activity	g.chr2:28070964delC	BC017425	CCDS1762.1	2p23.3	2008-02-05			ENSG00000171174	ENSG00000171174	2.7.1.15		30325	protein-coding gene	gene with protein product		611132				8382990	Standard	NM_022128		Approved	DKFZp686G13268, RBSK	uc002rlo.1	Q9H477	OTTHUMG00000097833	ENST00000302188.3:c.223-1G>-	2.37:g.28070964delC						RBKS_ENST00000444339.2_Splice_Site_p.V75_splice	p.V75_splice	NM_022128.1	NP_071411.1	Q9H477	RBSK_HUMAN			3	975	-	Acute lymphoblastic leukemia(172;0.155)		75					A9UK04|B4DV96	Splice_Site	DEL	ENST00000302188.3	37	c.222_splice	CCDS1762.1																																																																																				0.279	RBKS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215118.1	NM_022128	Frame_Shift_Del	2	4						2	4	---	---	---	---	-	28070964	C	-	28070964	8	5	319	1	0	1	0	1	0	0	1	0	13108	521	18	0	769	0	RBKS	2	28070964	Splice_Site	DEL	C	TCGA-KK-A6E8-01A-11D-A31L-08	7423530	28070964	215128409	11	16351											
CLEC4F	165530	broad.mit.edu	37	chr2	71046973	71046973	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aaatgccggggtagcctgaaCgagcctcggtatcttggggg	8	8	16	9	3	1	1	0	1	1	0	2	2	1	1	3	5	4	2	3	5	4	3			TCGA-KK-A6E8-01A-11D-A31L-08	TCGA-KK-A6E8-11A-11D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ea4c81-9106-43af-b2ce-2352d6fd4978	f79ad5e5-cf51-49cb-aafb-2c6ab3448ecc	g.chr2:71046973C>T	ENST00000272367.2	-	2	188	c.112G>A	c.(112-114)Gtt>Att	p.V38I	CLEC4F_ENST00000426626.1_Missense_Mutation_p.V38I	NM_001258027.1|NM_173535.2	NP_001244956.1|NP_775806.2	Q8N1N0	CLC4F_HUMAN	C-type lectin domain family 4, member F	38					endocytosis (GO:0006897)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			endometrium(1)|large_intestine(5)|lung(18)|ovary(5)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)	37						GTAGCCTGAACGAGCCTCGGT	0.552																																					Colon(107;10 2157 6841 26035)	ENST00000272367.2																			0				endometrium(1)|large_intestine(5)|lung(18)|ovary(5)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)	37						c.(112-114)Gtt>Att		C-type lectin domain family 4, member F							57	56	57					2																	71046973		2203	4300	6503	SO:0001583	missense	165530				endocytosis	integral to membrane	receptor activity|sugar binding	g.chr2:71046973C>T	AK096429	CCDS1910.1	2p13.3	2008-02-05	2005-02-09	2005-02-11	ENSG00000152672	ENSG00000152672		"C-type lectin domain containing"	25357	protein-coding gene	gene with protein product			"C-type (calcium dependent, carbohydrate-recognition domain) lectin, superfamily member 13"	CLECSF13		8889548, 1846367	Standard	NM_001258027		Approved	FLJ39110, KCLR	uc002shf.3	Q8N1N0	OTTHUMG00000129713	ENST00000272367.2:c.112G>A	2.37:g.71046973C>T	ENSP00000272367:p.Val38Ile					CLEC4F_ENST00000426626.1_Missense_Mutation_p.V38I	p.V38I	NM_001258027.1|NM_173535.2	NP_001244956.1|NP_775806.2	Q8N1N0	CLC4F_HUMAN			2	188	-			38					A4QPA5	Missense_Mutation	SNP	ENST00000272367.2	37	c.112G>A	CCDS1910.1	.	.	.	.	.	.	.	.	.	.	C	3.407	-0.121108	0.06838	.	.	ENSG00000152672	ENST00000272367;ENST00000426626	T;T	0.02280	4.4;4.36	4.66	-4.04	0.04010	.	2.435590	0.02456	N	0.086106	T	0.01320	0.0043	N	0.11560	0.145	0.09310	N	1	B;B	0.10296	0.003;0.003	B;B	0.04013	0.001;0.001	T	0.45731	-0.9241	10	0.21540	T	0.41	.	2.0462	0.03561	0.1117:0.3842:0.202:0.302	.	38;38	B7ZMM1;Q8N1N0	.;CLC4F_HUMAN	I	38	ENSP00000272367:V38I;ENSP00000390581:V38I	ENSP00000272367:V38I	V	-	1	0	CLEC4F	70900481	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.452000	0.01005	-1.453000	0.01928	-1.595000	0.00837	GTT		0.552	CLEC4F-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251922.1	NM_173535		18	29	0	0	0	1	0	18	29					T	71046973	C	T	71046973	3	4	319	1	0	0	0	0	1	0	0	0	3516	536	19	1	1681	1	CLEC4F	2	71046973	Missense_Mutation	SNP	C	TCGA-KK-A6E8-01A-11D-A31L-08	42976009	71046973	172152400	12	16352											
ANKRD23	200539	broad.mit.edu	37	chr2	97505817	97505817	+	Frame_Shift_Del	DEL	G	G	-																															ggtgcgcactgccacgtgcaGgggggtgctcccgatctgag																										TCGA-KK-A6E8-01A-11D-A31L-08	TCGA-KK-A6E8-11A-11D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ea4c81-9106-43af-b2ce-2352d6fd4978	f79ad5e5-cf51-49cb-aafb-2c6ab3448ecc	g.chr2:97505817delG	ENST00000318357.4	-	7	681	c.640delC	c.(640-642)ctgfs	p.L214fs	ANKRD23_ENST00000476975.1_5'UTR|ANKRD23_ENST00000418232.1_Frame_Shift_Del_p.L214fs|ANKRD23_ENST00000331001.2_Frame_Shift_Del_p.L172fs	NM_144994.7	NP_659431.5	Q86SG2	ANR23_HUMAN	ankyrin repeat domain 23	214					fatty acid metabolic process (GO:0006631)|response to mechanical stimulus (GO:0009612)	I band (GO:0031674)|intercalated disc (GO:0014704)|nucleus (GO:0005634)	titin binding (GO:0031432)			endometrium(2)|kidney(1)|lung(4)|ovary(1)|prostate(1)	9						GCCACGTGCAGGGGGGTGCTC	0.637																																						ENST00000318357.4																			0				endometrium(2)|kidney(1)|lung(4)|ovary(1)|prostate(1)	9						c.(640-642)tgfs		ankyrin repeat domain 23							18	17	17					2																	97505817		2177	4274	6451	SO:0001589	frameshift_variant	200539					nucleus		g.chr2:97505817delG		CCDS2027.1	2q11.2	2013-01-10			ENSG00000163126	ENSG00000163126		"Ankyrin repeat domain containing"	24470	protein-coding gene	gene with protein product	"diabetes related ankyrin repeat protein"	610736				12456686	Standard	NM_144994		Approved	DARP, FLJ32449, MARP3	uc002sxa.3	Q86SG2	OTTHUMG00000130534	ENST00000318357.4:c.640delC	2.37:g.97505817delG	ENSP00000321679:p.Leu214fs					ANKRD23_ENST00000331001.2_Frame_Shift_Del_p.L172fs|ANKRD23_ENST00000418232.1_Frame_Shift_Del_p.L214fs|ANKRD23_ENST00000476975.1_5'UTR	p.L214fs	NM_144994.7	NP_659431.5	Q86SG2	ANR23_HUMAN			7	681	-			214					Q711K7|Q8NAJ7	Frame_Shift_Del	DEL	ENST00000318357.4	37	c.640delC	CCDS2027.1																																																																																				0.637	ANKRD23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252956.1	NM_144994		2	4						2	4	---	---	---	---	-	97505817	G	-	97505817	7	5	319	1	0	1	0	1	0	0	0	0	652	991	35	0	289	0	ANKRD23	2	97505817	Frame_Shift_Del	DEL	G	TCGA-KK-A6E8-01A-11D-A31L-08	26458844	97505817	145693556	13	16353											
CACNB4	785	broad.mit.edu	37	chr2	152698423	152698423	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	aaaagtgacaatacctgtaaCccagaaattgctgtgggata	16	9	9	7	0	0	2	0	1	0	1	0	3	0	3	2	1	3	2	2	1	7	4			TCGA-KK-A6E8-01A-11D-A31L-08	TCGA-KK-A6E8-11A-11D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ea4c81-9106-43af-b2ce-2352d6fd4978	f79ad5e5-cf51-49cb-aafb-2c6ab3448ecc	g.chr2:152698423C>T	ENST00000539935.1	-	13	1363	c.1296G>A	c.(1294-1296)ggG>ggA	p.G432G	CACNB4_ENST00000427385.1_Silent_p.G414G|CACNB4_ENST00000360283.6_Silent_p.G399G|CACNB4_ENST00000397327.2_Silent_p.G385G|CACNB4_ENST00000201943.5_Intron|CACNB4_ENST00000534999.1_Silent_p.G398G	NM_000726.3|NM_001145798.1	NP_000717.2|NP_001139270.1	O00305	CACB4_HUMAN	calcium channel, voltage-dependent, beta 4 subunit	432					adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|calcium ion transmembrane transport (GO:0070588)|cAMP metabolic process (GO:0046058)|cellular calcium ion homeostasis (GO:0006874)|detection of light stimulus involved in visual perception (GO:0050908)|gamma-aminobutyric acid secretion (GO:0014051)|gamma-aminobutyric acid signaling pathway (GO:0007214)|membrane depolarization (GO:0051899)|muscle fiber development (GO:0048747)|neuromuscular junction development (GO:0007528)|neuronal action potential propagation (GO:0019227)|Peyer's patch development (GO:0048541)|regulation of voltage-gated calcium channel activity (GO:1901385)|spleen development (GO:0048536)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|T cell receptor signaling pathway (GO:0050852)|thymus development (GO:0048538)|transport (GO:0006810)	cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|plasma membrane (GO:0005886)|synapse (GO:0045202)|voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)	p.G432G(2)		endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)	11				BRCA - Breast invasive adenocarcinoma(221;0.156)	Dronedarone(DB04855)|Nimodipine(DB00393)|Spironolactone(DB00421)|Verapamil(DB00661)	ATACCTGTAACCCAGAAATTG	0.473																																						ENST00000360283.6																			2	Substitution - coding silent(2)	p.G432G(2)	large_intestine(2)	endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)	11						c.(1195-1197)ggG>ggA		calcium channel, voltage-dependent, beta 4 subunit	Verapamil(DB00661)						115	116	116					2																	152698423		1974	4152	6126	SO:0001819	synonymous_variant	785				axon guidance|membrane depolarization|synaptic transmission	cytosol|internal side of plasma membrane|plasma membrane|synapse|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity	g.chr2:152698423C>T	AF038852	CCDS46426.1, CCDS46427.1, CCDS46428.1, CCDS54409.1	2q22-q23	2009-09-04			ENSG00000182389	ENSG00000182389		"Calcium channel subunits"	1404	protein-coding gene	gene with protein product		601949				9628818	Standard	NM_000726		Approved	EJM4	uc002tya.3	O00305	OTTHUMG00000155091	ENST00000539935.1:c.1296G>A	2.37:g.152698423C>T						CACNB4_ENST00000397327.2_Silent_p.G385G|CACNB4_ENST00000534999.1_Silent_p.G398G|CACNB4_ENST00000427385.1_Silent_p.G414G|CACNB4_ENST00000539935.1_Silent_p.G432G|CACNB4_ENST00000201943.5_Intron	p.G399G			O00305	CACB4_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.156)	12	1454	-			432					A7BJ74|A8K1Y4|B4DG40|O60515|Q6B000|Q96L40	Silent	SNP	ENST00000539935.1	37	c.1197G>A	CCDS46426.1																																																																																				0.473	CACNB4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000338385.4	NM_000726.3		39	73	0	0	0	1	0	39	73					T	152698423	C	T	152698423	2	4	319	1	0	0	0	0	0	0	0	1	2555	494	18	3		3	CACNB4	2	152698423	Silent	SNP	C	TCGA-KK-A6E8-01A-11D-A31L-08	55192606	152698423	90500950	14	16354											
ASNSD1	54529	broad.mit.edu	37	chr2	190531324	190531324	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atttgggcaagagtttctgcCtctcttcagttggcacccaa	8	13	9	11	0	3	1	1	0	2	1	4	1	3	1	2	2	1	4	2	2	2	4			TCGA-KK-A6E8-01A-11D-A31L-08	TCGA-KK-A6E8-11A-11D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ea4c81-9106-43af-b2ce-2352d6fd4978	f79ad5e5-cf51-49cb-aafb-2c6ab3448ecc	g.chr2:190531324C>G	ENST00000260952.4	+	4	879	c.466C>G	c.(466-468)Ctc>Gtc	p.L156V	ASNSD1_ENST00000607062.1_Intron	NM_019048.2	NP_061921	Q9NWL6	ASND1_HUMAN	asparagine synthetase domain containing 1	156	Glutamine amidotransferase type-2. {ECO:0000255|PROSITE-ProRule:PRU00609}.				asparagine biosynthetic process (GO:0006529)|glutamine metabolic process (GO:0006541)		asparagine synthase (glutamine-hydrolyzing) activity (GO:0004066)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(3)	25			OV - Ovarian serous cystadenocarcinoma(117;0.00318)|Epithelial(96;0.0449)|all cancers(119;0.118)			GAGTTTCTGCCTCTCTTCAGT	0.398																																						ENST00000260952.4																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(3)	25						c.(466-468)Ctc>Gtc		asparagine synthetase domain containing 1							101	103	103					2																	190531324		2187	4274	6461	SO:0001583	missense	54529				asparagine biosynthetic process|glutamine metabolic process		asparagine synthase (glutamine-hydrolyzing) activity	g.chr2:190531324C>G	AY116969	CCDS2300.1	2q32.2	2012-09-20			ENSG00000138381	ENSG00000138381			24910	protein-coding gene	gene with protein product							Standard	NM_019048		Approved	NS3TP1, FLJ20752, NBLA00058	uc002uqt.3	Q9NWL6	OTTHUMG00000132665	ENST00000260952.4:c.466C>G	2.37:g.190531324C>G	ENSP00000260952:p.Leu156Val					ASNSD1_ENST00000607062.1_Intron	p.L156V	NM_019048.2	NP_061921.1	Q9NWL6	ASND1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00318)|Epithelial(96;0.0449)|all cancers(119;0.118)		4	879	+			156			Glutamine amidotransferase type-2.		D3DPH6|Q3LIC3|Q4ZG45	Missense_Mutation	SNP	ENST00000260952.4	37	c.466C>G	CCDS2300.1	.	.	.	.	.	.	.	.	.	.	C	19.46	3.832099	0.71258	.	.	ENSG00000138381	ENST00000260952;ENST00000420250	T;T	0.36340	1.26;1.26	5.62	4.73	0.59995	Glutamine amidotransferase, type II (1);	0.056150	0.64402	D	0.000001	T	0.54743	0.1877	M	0.71920	2.185	0.80722	D	1	D	0.55800	0.973	P	0.57283	0.817	T	0.59547	-0.7434	10	0.54805	T	0.06	-5.4252	16.0352	0.80621	0.1354:0.8645:0.0:0.0	.	156	Q9NWL6	ASND1_HUMAN	V	156	ENSP00000260952:L156V;ENSP00000406790:L156V	ENSP00000260952:L156V	L	+	1	0	ASNSD1	190239569	0.999000	0.42202	1.000000	0.80357	0.994000	0.84299	1.898000	0.39809	1.466000	0.48025	0.655000	0.94253	CTC		0.398	ASNSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255919.3	NM_019048		51	81	0	0	0	1	0	51	81					G	190531324	C	G	190531324	3	3	319	1	0	0	0	0	1	0	0	0	1049	681	24	5	468	5	ASNSD1	2	190531324	Missense_Mutation	SNP	C	TCGA-KK-A6E8-01A-11D-A31L-08	37832901	190531324	52668049	15	16355											
DES	1674	broad.mit.edu	37	chr2	220285375	220285375	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgaggagtggtacaagtcGaaggtgggtggcctcgcccg	7	7	18	9	3	0	1	0	1	0	0	2	3	0	2	2	5	1	2	2	5	3	1			TCGA-KK-A6E8-01A-11D-A31L-08	TCGA-KK-A6E8-11A-11D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ea4c81-9106-43af-b2ce-2352d6fd4978	f79ad5e5-cf51-49cb-aafb-2c6ab3448ecc	g.chr2:220285375G>T	ENST00000373960.3	+	4	980	c.894G>T	c.(892-894)tcG>tcT	p.S298S		NM_001927.3	NP_001918.3	P17661	DESM_HUMAN	desmin	298	Coil 2B.|Rod.				cytoskeleton organization (GO:0007010)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|regulation of heart contraction (GO:0008016)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intermediate filament (GO:0005882)|neuromuscular junction (GO:0031594)|sarcolemma (GO:0042383)|Z disc (GO:0030018)	cytoskeletal protein binding (GO:0008092)|identical protein binding (GO:0042802)|structural constituent of cytoskeleton (GO:0005200)			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(10)|skin(1)	18		Renal(207;0.0183)		Epithelial(149;5.25e-07)|all cancers(144;0.000103)|Lung(261;0.00533)|LUSC - Lung squamous cell carcinoma(224;0.008)		GGTACAAGTCGAAGGTGGGTG	0.602																																						ENST00000373960.3																			0				breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(10)|skin(1)	18						c.(892-894)tcG>tcT		desmin							54	52	53					2																	220285375		2203	4300	6503	SO:0001819	synonymous_variant	1674				cytoskeleton organization|muscle filament sliding|regulation of heart contraction	cytosol|Z disc	protein binding|structural constituent of cytoskeleton	g.chr2:220285375G>T	AF521879	CCDS33383.1	2q35	2014-09-17			ENSG00000175084	ENSG00000175084		"Intermediate filaments type III"	2770	protein-coding gene	gene with protein product	"intermediate filament protein"	125660				2673923, 9736733	Standard	NM_001927		Approved	CMD1I, CSM1, CSM2	uc002vll.3	P17661	OTTHUMG00000058924	ENST00000373960.3:c.894G>T	2.37:g.220285375G>T							p.S298S	NM_001927.3	NP_001918.3	P17661	DESM_HUMAN		Epithelial(149;5.25e-07)|all cancers(144;0.000103)|Lung(261;0.00533)|LUSC - Lung squamous cell carcinoma(224;0.008)	4	980	+		Renal(207;0.0183)	298			Coil 2B.|Rod.		Q15787|Q549R7|Q549R8|Q549R9|Q8IZR1|Q8IZR6|Q8NES2|Q8NEU6|Q8TAC4|Q8TCX2|Q8TD99|Q9UHN5|Q9UJ80	Silent	SNP	ENST00000373960.3	37	c.894G>T	CCDS33383.1																																																																																				0.602	DES-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130240.1	NM_001927		27	38	1	0	9.04072e-19	1	1.04054e-18	27	38					T	220285375	G	T	220285375	2	4	319	1	0	0	0	0	0	0	0	1	4449	1045	37	5		5	DES	2	220285375	Silent	SNP	G	TCGA-KK-A6E8-01A-11D-A31L-08	29754051	220285375	22913998	16	16356											
RELL1	768211	broad.mit.edu	37	chr4	37640115	37640115	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctaccatcgcctttaagaCatcagcattcgctaaggaat	12	11	7	11	2	1	1	1	0	0	1	3	2	1	2	2	1	3	3	2	1	4	5			TCGA-KK-A6E8-01A-11D-A31L-08	TCGA-KK-A6E8-11A-11D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ea4c81-9106-43af-b2ce-2352d6fd4978	f79ad5e5-cf51-49cb-aafb-2c6ab3448ecc	g.chr4:37640115C>A	ENST00000454158.2	-	4	485	c.397G>T	c.(397-399)Gtc>Ttc	p.V133F	RELL1_ENST00000314117.4_Missense_Mutation_p.V133F	NM_001085400.1	NP_001078869.1	Q8IUW5	RELL1_HUMAN	RELT-like 1	133						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|microtubule cytoskeleton (GO:0015630)|plasma membrane (GO:0005886)				endometrium(1)|large_intestine(3)|lung(1)|skin(1)	6						GCCTTTAAGACATCAGCATTC	0.358																																						ENST00000454158.2																			0				endometrium(1)|large_intestine(3)|lung(1)|skin(1)	6						c.(397-399)Gtc>Ttc		RELT-like 1							103	100	101					4																	37640115		1864	4108	5972	SO:0001583	missense	768211					cytoplasm|integral to membrane|microtubule cytoskeleton|plasma membrane		g.chr4:37640115C>A	AK025431	CCDS43221.1	4p14	2011-10-11				ENSG00000181826			27379	protein-coding gene	gene with protein product		611212				16389068	Standard	NM_001085399		Approved		uc003gsz.2	Q8IUW5		ENST00000454158.2:c.397G>T	4.37:g.37640115C>A	ENSP00000398778:p.Val133Phe					RELL1_ENST00000314117.4_Missense_Mutation_p.V133F	p.V133F	NM_001085400.1	NP_001078869.1	Q8IUW5	RELL1_HUMAN			4	485	-			133					Q8NBK1	Missense_Mutation	SNP	ENST00000454158.2	37	c.397G>T	CCDS43221.1	.	.	.	.	.	.	.	.	.	.	C	15.92	2.975527	0.53720	.	.	ENSG00000181826	ENST00000314117;ENST00000454158;ENST00000512114	T;T;T	0.35048	1.33;1.33;1.33	5.92	2.24	0.28232	.	0.325971	0.35903	N	0.002904	T	0.34542	0.0901	L	0.56769	1.78	0.35151	D	0.769752	P	0.41366	0.747	B	0.40782	0.34	T	0.52465	-0.8572	10	0.66056	D	0.02	-10.4688	10.2349	0.43277	0.0:0.7315:0.0:0.2685	.	133	Q8IUW5	RELL1_HUMAN	F	133;133;154	ENSP00000313385:V133F;ENSP00000398778:V133F;ENSP00000424031:V154F	ENSP00000313385:V133F	V	-	1	0	RELL1	37316510	0.997000	0.39634	0.971000	0.41717	0.998000	0.95712	0.359000	0.20233	0.831000	0.34780	0.655000	0.94253	GTC		0.358	RELL1-002	KNOWN	alternative_3_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360485.1	NM_001085400		17	30	1	0	1.56452e-12	1	1.7352e-12	17	30					A	37640115	C	A	37640115	3	1	319	1	0	0	0	0	1	0	0	0	13218	478	17	5	430	5	RELL1	4	37640115	Missense_Mutation	SNP	C	TCGA-KK-A6E8-01A-11D-A31L-08		37640115	153514161	17	16357											
SRFBP1	153443	broad.mit.edu	37	chr5	121356219	121356219	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gagaaggaatattttgatgaTagcacagaagaaaggtttta	17	11	11	2	0	0	5	0	2	0	3	0	7	0	6	0	2	1	2	0	2	7	6			TCGA-KK-A6E8-01A-11D-A31L-08	TCGA-KK-A6E8-11A-11D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ea4c81-9106-43af-b2ce-2352d6fd4978	f79ad5e5-cf51-49cb-aafb-2c6ab3448ecc	g.chr5:121356219T>A	ENST00000339397.4	+	6	861	c.789T>A	c.(787-789)gaT>gaA	p.D263E		NM_152546.2	NP_689759.2			serum response factor binding protein 1											central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|skin(1)	15		all_cancers(142;0.0124)|Prostate(80;0.0322)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000227)|Epithelial(69;0.000365)|all cancers(49;0.00517)		ATTTTGATGATAGCACAGAAG	0.408																																						ENST00000339397.4																			0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|skin(1)	15						c.(787-789)gaT>gaA		serum response factor binding protein 1							131	118	122					5																	121356219		1873	4123	5996	SO:0001583	missense	153443				regulation of transcription, DNA-dependent|transcription, DNA-dependent	perinuclear region of cytoplasm		g.chr5:121356219T>A	AK058015	CCDS43354.1	5q23.1	2006-12-21				ENSG00000151304			26333	protein-coding gene	gene with protein product	"BUD22 homolog (S. cerevisiae)"	610479				15492011	Standard	NM_152546		Approved	FLJ25286, p49, STRAP, BUD22, Rlb1	uc003kst.1	Q8NEF9		ENST00000339397.4:c.789T>A	5.37:g.121356219T>A	ENSP00000341324:p.Asp263Glu						p.D263E	NM_152546.2	NP_689759.2	Q8NEF9	SRFB1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000227)|Epithelial(69;0.000365)|all cancers(49;0.00517)	6	861	+		all_cancers(142;0.0124)|Prostate(80;0.0322)	263						Missense_Mutation	SNP	ENST00000339397.4	37	c.789T>A	CCDS43354.1	.	.	.	.	.	.	.	.	.	.	T	25.4	4.629775	0.87660	.	.	ENSG00000151304	ENST00000339397	.	.	.	5.71	-3.39	0.04868	.	0.000000	0.85682	D	0.000000	T	0.74786	0.3762	M	0.75777	2.31	0.47659	D	0.999488	D	0.76494	0.999	D	0.85130	0.997	T	0.77950	-0.2395	9	0.87932	D	0	-24.333	15.3076	0.74004	0.0:0.6256:0.0:0.3744	.	263	Q8NEF9	SRFB1_HUMAN	E	263	.	ENSP00000341324:D263E	D	+	3	2	SRFBP1	121384118	0.956000	0.32656	0.992000	0.48379	0.971000	0.66376	0.078000	0.14761	-0.362000	0.08113	0.460000	0.39030	GAT		0.408	SRFBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371200.1	NM_152546		42	74	0	0	0	1	0	42	74					A	121356219	T	A	121356219	3	1	319	1	0	0	0	0	1	0	0	0	15143	1403	49	5	811	5	SRFBP1	5	121356219	Missense_Mutation	SNP	T	TCGA-KK-A6E8-01A-11D-A31L-08		121356219	59559041	18	16358											
PCDHB6	56130	broad.mit.edu	37	chr5	140530499	140530499	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tggatggcgggtctccgcccCggtcagggacctccgagatt	5	8	15	13	4	2	1	1	0	1	1	4	4	3	3	5	5	0	0	5	5	0	1			TCGA-KK-A6E8-01A-11D-A31L-08	TCGA-KK-A6E8-11A-11D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ea4c81-9106-43af-b2ce-2352d6fd4978	f79ad5e5-cf51-49cb-aafb-2c6ab3448ecc	g.chr5:140530499C>T	ENST00000231136.1	+	1	661	c.661C>T	c.(661-663)Cgg>Tgg	p.R221W	PCDHB6_ENST00000543635.1_Missense_Mutation_p.R85W	NM_018939.2	NP_061762.1	Q9Y5E3	PCDB6_HUMAN	protocadherin beta 6	221	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GTCTCCGCCCCGGTCAGGGAC	0.582																																						ENST00000231136.1																			0				cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84						c.(661-663)Cgg>Tgg									44	48	47					5																	140530499		2203	4300	6503	SO:0001583	missense	0				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	g.chr5:140530499C>T	AF152499	CCDS4248.1	5q31	2010-01-26			ENSG00000113211	ENSG00000113211		"Cadherins / Protocadherins : Clustered"	8691	other	protocadherin		606332				10380929	Standard	NM_018939		Approved	PCDH-BETA6	uc003lir.3	Q9Y5E3	OTTHUMG00000129623	ENST00000231136.1:c.661C>T	5.37:g.140530499C>T	ENSP00000231136:p.Arg221Trp					PCDHB6_ENST00000543635.1_Missense_Mutation_p.R85W	p.R221W	NM_018939.2	NP_061762.1	Q9Y5E3	PCDB6_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	661	+			221			Cadherin 2.		B2R8R9	Missense_Mutation	SNP	ENST00000231136.1	37	c.661C>T	CCDS4248.1	.	.	.	.	.	.	.	.	.	.	C	14.66	2.600258	0.46423	.	.	ENSG00000113211	ENST00000543635;ENST00000231136;ENST00000542861	T;T	0.55234	0.53;0.53	4.85	-2.88	0.05682	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.80297	0.4597	H	0.98738	4.315	0.09310	N	1	D	0.89917	1.0	D	0.70016	0.967	T	0.71490	-0.4577	9	0.87932	D	0	.	11.3347	0.49496	0.7605:0.1609:0.0:0.0786	.	221	Q9Y5E3	PCDB6_HUMAN	W	85;221;6	ENSP00000438466:R85W;ENSP00000231136:R221W	ENSP00000231136:R221W	R	+	1	2	PCDHB6	140510683	0.000000	0.05858	0.005000	0.12908	0.717000	0.41224	-0.563000	0.05943	-0.194000	0.10399	-0.410000	0.06199	CGG		0.582	PCDHB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251818.2	NM_018939		4	48	0	0	0	1	0	4	48					T	140530499	C	T	140530499	3	4	319	1	0	0	0	0	1	0	0	0	11546	643	23	2	663	2	PCDHB6	5	140530499	Missense_Mutation	SNP	C	TCGA-KK-A6E8-01A-11D-A31L-08	19174280	140530499	40384761	19	16359											
NDST1	3340	broad.mit.edu	37	chr5	149922490	149922490	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctctgagacctttgaggagAtccagttttttaatggccac	9	13	10	9	0	1	3	0	2	1	2	2	5	2	3	3	2	0	2	3	2	1	4			TCGA-KK-A6E8-01A-11D-A31L-08	TCGA-KK-A6E8-11A-11D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ea4c81-9106-43af-b2ce-2352d6fd4978	f79ad5e5-cf51-49cb-aafb-2c6ab3448ecc	g.chr5:149922490A>G	ENST00000261797.6	+	10	2429	c.1927A>G	c.(1927-1929)Atc>Gtc	p.I643V	snoU13_ENST00000459561.1_RNA|NDST1_ENST00000523767.1_Missense_Mutation_p.I643V	NM_001543.4	NP_001534.1	P52848	NDST1_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 1	643	Heparan sulfate N-sulfotransferase 1.				carbohydrate metabolic process (GO:0005975)|embryonic neurocranium morphogenesis (GO:0048702)|embryonic viscerocranium morphogenesis (GO:0048703)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain development (GO:0030900)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparin biosynthetic process (GO:0030210)|inflammatory response (GO:0006954)|MAPK cascade (GO:0000165)|midbrain development (GO:0030901)|polysaccharide biosynthetic process (GO:0000271)|respiratory gaseous exchange (GO:0007585)|small molecule metabolic process (GO:0044281)|smoothened signaling pathway (GO:0007224)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine N-sulfotransferase activity (GO:0015016)|deacetylase activity (GO:0019213)			breast(2)|central_nervous_system(3)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	34		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CTTTGAGGAGATCCAGTTTTT	0.577																																						ENST00000261797.6																			0				breast(2)|central_nervous_system(3)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	34						c.(1927-1929)Atc>Gtc		N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 1							196	192	193					5																	149922490		2203	4300	6503	SO:0001583	missense	3340				heparan sulfate proteoglycan biosynthetic process|inflammatory response	Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity	g.chr5:149922490A>G	U18918	CCDS34277.1, CCDS75358.1	5q33.1	2008-02-05				ENSG00000070614		"Sulfotransferases, membrane-bound"	7680	protein-coding gene	gene with protein product		600853		HSST		7601448, 9230113	Standard	NM_001543		Approved	NST1	uc003lsk.4	P52848		ENST00000261797.6:c.1927A>G	5.37:g.149922490A>G	ENSP00000261797:p.Ile643Val					NDST1_ENST00000523767.1_Missense_Mutation_p.I643V	p.I643V	NM_001543.4	NP_001534.1	P52848	NDST1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		10	2429	+		all_hematologic(541;0.224)	643			Heparan sulfate N-sulfotransferase 1.		Q96E57	Missense_Mutation	SNP	ENST00000261797.6	37	c.1927A>G	CCDS34277.1	.	.	.	.	.	.	.	.	.	.	A	6.894	0.534537	0.13188	.	.	ENSG00000070614	ENST00000523767;ENST00000261797	T;T	0.53857	0.6;0.6	5.24	5.24	0.73138	Sulfotransferase domain (1);	0.000000	0.85682	D	0.000000	T	0.28267	0.0698	N	0.04116	-0.275	0.54753	D	0.999985	B;B	0.12013	0.005;0.004	B;B	0.18871	0.023;0.014	T	0.21999	-1.0229	10	0.02654	T	1	.	15.4462	0.75232	1.0:0.0:0.0:0.0	.	643;643	E7EVJ3;P52848	.;NDST1_HUMAN	V	643	ENSP00000428604:I643V;ENSP00000261797:I643V	ENSP00000261797:I643V	I	+	1	0	NDST1	149902683	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	6.318000	0.72866	2.104000	0.64026	0.383000	0.25322	ATC		0.577	NDST1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374314.2	NM_001543		5	239	0	0	0	1	0	5	239					G	149922490	A	G	149922490	3	3	319	1	0	0	0	0	1	0	0	0	10255	333	12	4	1961	4	NDST1	5	149922490	Missense_Mutation	SNP	A	TCGA-KK-A6E8-01A-11D-A31L-08	9391991	149922490	30992770	20	16360											
GLRA1	2741	broad.mit.edu	37	chr5	151208547	151208547	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttgccgagacacaaagttaaCggcagcatattctaataggg	14	9	10	8	2	1	1	0	0	1	1	1	2	1	1	1	2	3	3	1	2	5	6			TCGA-KK-A6E8-01A-11D-A31L-08	TCGA-KK-A6E8-11A-11D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ea4c81-9106-43af-b2ce-2352d6fd4978	f79ad5e5-cf51-49cb-aafb-2c6ab3448ecc	g.chr5:151208547C>G	ENST00000455880.2	-	8	1280	c.994G>C	c.(994-996)Gtt>Ctt	p.V332L	GLRA1_ENST00000545569.1_Missense_Mutation_p.V249L|GLRA1_ENST00000274576.4_Missense_Mutation_p.V332L			P23415	GLRA1_HUMAN	glycine receptor, alpha 1	332					acrosome reaction (GO:0007340)|action potential (GO:0001508)|adult walking behavior (GO:0007628)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|muscle contraction (GO:0006936)|negative regulation of transmission of nerve impulse (GO:0051970)|neuromuscular process controlling posture (GO:0050884)|neuropeptide signaling pathway (GO:0007218)|positive regulation of acrosome reaction (GO:2000344)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of membrane potential (GO:0042391)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|righting reflex (GO:0060013)|startle response (GO:0001964)|synaptic transmission, glycinergic (GO:0060012)|transmembrane transport (GO:0055085)|visual perception (GO:0007601)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|external side of plasma membrane (GO:0009897)|inhibitory synapse (GO:0060077)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	extracellular-glycine-gated chloride channel activity (GO:0016934)|glycine binding (GO:0016594)|taurine binding (GO:0030977)|transmitter-gated ion channel activity (GO:0022824)			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	23		all_hematologic(541;0.0341)|Medulloblastoma(196;0.0912)	Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Ethanol(DB00898)|Ginkgo biloba(DB01381)|Glycine(DB00145)|Halothane(DB01159)|Isoflurane(DB00753)|Lindane(DB00431)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	ACAAAGTTAACGGCAGCATAT	0.512																																						ENST00000274576.4																			0				breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	23						c.(994-996)Gtt>Ctt		glycine receptor, alpha 1	Desflurane(DB01189)|Enflurane(DB00228)|Ethanol(DB00898)|Glycine(DB00145)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)						125	121	123					5																	151208547		2203	4300	6503	SO:0001583	missense	2741				muscle contraction|negative regulation of transmission of nerve impulse|neuropeptide signaling pathway|positive regulation of acrosome reaction|regulation of membrane potential|startle response	cell junction|chloride channel complex|integral to plasma membrane|intracellular membrane-bounded organelle|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|glycine binding|protein binding|receptor activity|taurine binding|transmitter-gated ion channel activity	g.chr5:151208547C>G		CCDS4320.1, CCDS54942.1	5q33.1	2012-02-07	2008-01-24		ENSG00000145888	ENSG00000145888		"Ligand-gated ion channels / Glycine receptors"	4326	protein-coding gene	gene with protein product	"startle disease/hyperekplexia", "stiff person syndrome"	138491	"glycine receptor, alpha 1 (startle disease/hyperekplexia)"	STHE		1355335, 8298642	Standard	NM_000171		Approved		uc003lut.3	P23415	OTTHUMG00000130121	ENST00000455880.2:c.994G>C	5.37:g.151208547C>G	ENSP00000411593:p.Val332Leu					GLRA1_ENST00000455880.2_Missense_Mutation_p.V332L|GLRA1_ENST00000545569.1_Missense_Mutation_p.V249L	p.V332L	NM_000171.3|NM_001146040.1	NP_000162.2|NP_001139512.1	P23415	GLRA1_HUMAN	Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		8	1286	-		all_hematologic(541;0.0341)|Medulloblastoma(196;0.0912)	332					B2R6T3|Q14C77|Q6DJV9	Missense_Mutation	SNP	ENST00000455880.2	37	c.994G>C	CCDS54942.1	.	.	.	.	.	.	.	.	.	.	C	34	5.330936	0.95733	.	.	ENSG00000145888	ENST00000274576;ENST00000455880;ENST00000545569	D;D;D	0.89552	-2.53;-2.53;-2.53	5.07	5.07	0.68467	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.000000	0.85682	D	0.000000	D	0.92024	0.7473	M	0.77103	2.36	0.80722	D	1	P;P;P	0.40032	0.699;0.631;0.466	P;P;B	0.46629	0.522;0.522;0.313	D	0.93074	0.6485	10	0.87932	D	0	.	18.826	0.92119	0.0:1.0:0.0:0.0	.	332;249;332	P23415;Q14C71;P23415-2	GLRA1_HUMAN;.;.	L	332;332;249	ENSP00000274576:V332L;ENSP00000411593:V332L;ENSP00000445913:V249L	ENSP00000274576:V332L	V	-	1	0	GLRA1	151188740	1.000000	0.71417	0.959000	0.39883	0.892000	0.51952	7.557000	0.82243	2.524000	0.85096	0.650000	0.86243	GTT		0.512	GLRA1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000373959.1			52	84	0	0	0	1	0	52	84					G	151208547	C	G	151208547	3	3	319	1	0	0	0	0	1	0	0	0	6454	536	19	5	387	5	GLRA1	5	151208547	Missense_Mutation	SNP	C	TCGA-KK-A6E8-01A-11D-A31L-08	1286057	151208547	29706713	21	16361											
CAP2	10486	broad.mit.edu	37	chr6	17507505	17507505	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtttaatcatctttcggccGtcagcgaaagcatccctgcc	8	12	8	13	3	3	0	2	0	1	0	5	1	4	0	3	1	3	2	3	1	2	3			TCGA-KK-A6E8-01A-11D-A31L-08	TCGA-KK-A6E8-11A-11D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ea4c81-9106-43af-b2ce-2352d6fd4978	f79ad5e5-cf51-49cb-aafb-2c6ab3448ecc	g.chr6:17507505G>A	ENST00000229922.2	+	5	938	c.406G>A	c.(406-408)Gtc>Atc	p.V136I	CAP2_ENST00000489374.1_Intron|CAP2_ENST00000378990.2_Missense_Mutation_p.V110I|CAP2_ENST00000465994.1_Missense_Mutation_p.V136I|CAP2_ENST00000493172.1_Intron	NM_006366.2	NP_006357.1	P40123	CAP2_HUMAN	CAP, adenylate cyclase-associated protein, 2 (yeast)	136					activation of adenylate cyclase activity (GO:0007190)|axon guidance (GO:0007411)|cytoskeleton organization (GO:0007010)|establishment or maintenance of cell polarity (GO:0007163)|signal transduction (GO:0007165)	plasma membrane (GO:0005886)		p.V136I(3)		breast(3)|endometrium(4)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(4)|urinary_tract(1)	27	Breast(50;0.0333)|Ovarian(93;0.0386)	all_hematologic(90;0.0466)	all cancers(50;0.194)|Epithelial(50;0.227)			TCTTTCGGCCGTCAGCGAAAG	0.483																																						ENST00000229922.2																			3	Substitution - Missense(3)	p.V136I(3)	breast(2)|endometrium(1)	breast(3)|endometrium(4)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(4)|urinary_tract(1)	27						c.(406-408)Gtc>Atc		CAP, adenylate cyclase-associated protein, 2 (yeast)							131	103	113					6																	17507505		2203	4300	6503	SO:0001583	missense	10486				activation of adenylate cyclase activity|axon guidance|cytoskeleton organization|establishment or maintenance of cell polarity|signal transduction	plasma membrane	actin binding	g.chr6:17507505G>A	BC008481	CCDS4539.1	6p22.3	2008-02-05			ENSG00000112186	ENSG00000112186			20039	protein-coding gene	gene with protein product						7962207, 8761950	Standard	NM_006366		Approved		uc003ncb.3	P40123	OTTHUMG00000014311	ENST00000229922.2:c.406G>A	6.37:g.17507505G>A	ENSP00000229922:p.Val136Ile					CAP2_ENST00000489374.1_Intron|CAP2_ENST00000493172.1_Intron|CAP2_ENST00000465994.1_Missense_Mutation_p.V136I|CAP2_ENST00000378990.2_Missense_Mutation_p.V110I	p.V136I	NM_006366.2	NP_006357.1	P40123	CAP2_HUMAN	all cancers(50;0.194)|Epithelial(50;0.227)		5	938	+	Breast(50;0.0333)|Ovarian(93;0.0386)	all_hematologic(90;0.0466)	136					B2R5Y3|B7Z1C4|B7Z214|Q6IAY2	Missense_Mutation	SNP	ENST00000229922.2	37	c.406G>A	CCDS4539.1	.	.	.	.	.	.	.	.	.	.	G	11.51	1.660244	0.29515	.	.	ENSG00000112186	ENST00000229922;ENST00000378994;ENST00000378990;ENST00000465994	T;T;T	0.12465	2.68;2.68;2.68	5.38	5.38	0.77491	Adenylate cyclase-associated CAP, N-terminal (2);	0.113597	0.64402	D	0.000013	T	0.02807	0.0084	N	0.20807	0.61	0.27729	N	0.944873	P;P;B	0.40970	0.536;0.734;0.429	B;B;B	0.37780	0.072;0.258;0.088	T	0.34900	-0.9810	10	0.14656	T	0.56	-20.36	9.511	0.39076	0.1588:0.0:0.8412:0.0	.	136;110;136	B7Z1C4;E9PDI2;P40123	.;.;CAP2_HUMAN	I	136;136;110;136	ENSP00000229922:V136I;ENSP00000368275:V110I;ENSP00000418604:V136I	ENSP00000229922:V136I	V	+	1	0	CAP2	17615484	1.000000	0.71417	0.990000	0.47175	0.998000	0.95712	5.605000	0.67634	2.515000	0.84797	0.557000	0.71058	GTC		0.483	CAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039952.2			4	58	0	0	0	1	0	4	58					A	17507505	G	A	17507505	3	1	319	1	0	0	0	0	1	0	0	0	2620	1145	40	1	420	1	CAP2	6	17507505	Missense_Mutation	SNP	G	TCGA-KK-A6E8-01A-11D-A31L-08		17507505	153607562	22	16362											
C6orf138	442213	broad.mit.edu	37	chr6	48036204	48036204	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggtcgccctcgggctggaagCggttgagcgcgctgaggccg	4	6	19	12	6	0	2	0	2	0	0	2	3	0	3	2	5	2	3	2	5	1	1			TCGA-KK-A6E8-01A-11D-A31L-08	TCGA-KK-A6E8-11A-11D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ea4c81-9106-43af-b2ce-2352d6fd4978	f79ad5e5-cf51-49cb-aafb-2c6ab3448ecc	g.chr6:48036204C>T	ENST00000339488.4	-	1	221	c.188G>A	c.(187-189)cGc>cAc	p.R63H	PTCHD4_ENST00000543600.1_Missense_Mutation_p.R46H	NM_001013732.3	NP_001013754.3	Q6ZW05	PTHD4_HUMAN	patched domain containing 4	63						integral component of membrane (GO:0016021)	hedgehog receptor activity (GO:0008158)										GGGCTGGAAGCGGTTGAGCGC	0.667																																						ENST00000543600.1																			0											c.(136-138)cGc>cAc		patched domain containing 4							28	32	31					6																	48036204		1985	4170	6155	SO:0001583	missense	442213					integral to membrane	hedgehog receptor activity	g.chr6:48036204C>T		CCDS34473.2	6p12.3	2012-02-06	2012-02-06	2012-02-06	ENSG00000244694	ENSG00000244694			21345	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 138"	C6orf138			Standard	NM_001013732		Approved	dJ402H5.2, FLJ41841	uc011dwm.2	Q6ZW05	OTTHUMG00000150404	ENST00000339488.4:c.188G>A	6.37:g.48036204C>T	ENSP00000341914:p.Arg63His					PTCHD4_ENST00000339488.4_Missense_Mutation_p.R63H	p.R46H			Q6ZW05	CF138_HUMAN			1	176	-			63					B0QZ29|B4DRK3|Q5T884	Missense_Mutation	SNP	ENST00000339488.4	37	c.137G>A	CCDS34473.2	.	.	.	.	.	.	.	.	.	.	C	19.51	3.842007	0.71488	.	.	ENSG00000244694	ENST00000339488;ENST00000543600	D;T	0.92299	-3.01;0.63	4.56	4.56	0.56223	.	0.065455	0.56097	D	0.000031	D	0.92612	0.7653	L	0.54323	1.7	0.80722	D	1	B;D	0.76494	0.291;0.999	B;D	0.73380	0.049;0.98	D	0.90487	0.4464	10	0.15066	T	0.55	.	17.3669	0.87366	0.0:1.0:0.0:0.0	.	63;46	Q6ZW05;B0QZ29	CF138_HUMAN;.	H	63;46	ENSP00000341914:R63H;ENSP00000439864:R46H	ENSP00000341914:R63H	R	-	2	0	C6orf138	48144163	1.000000	0.71417	1.000000	0.80357	0.931000	0.56810	5.683000	0.68189	2.071000	0.62044	0.545000	0.68477	CGC		0.667	PTCHD4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317987.2	NM_001013732		16	27	0	0	0	1	0	16	27					T	48036204	C	T	48036204	3	4	319	1	0	0	0	0	1	0	0	0	2332	768	27	1	2364	1	C6orf138	6	48036204	Missense_Mutation	SNP	C	TCGA-KK-A6E8-01A-11D-A31L-08	30528699	48036204	123078863	23	16363											
BACH2	60468	broad.mit.edu	37	chr6	90660518	90660518	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctcacttggtcacaagcgCtggaggagaagatcacgctc	10	8	12	11	2	3	2	3	0	0	2	4	4	3	3	0	3	2	3	0	3	2	1			TCGA-KK-A6E8-01A-11D-A31L-08	TCGA-KK-A6E8-11A-11D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ea4c81-9106-43af-b2ce-2352d6fd4978	f79ad5e5-cf51-49cb-aafb-2c6ab3448ecc	g.chr6:90660518C>A	ENST00000257749.4	-	7	2014	c.1307G>T	c.(1306-1308)aGc>aTc	p.S436I	BACH2_ENST00000537989.1_Missense_Mutation_p.S436I|RP3-512E2.2_ENST00000445838.1_RNA|BACH2_ENST00000343122.3_Missense_Mutation_p.S436I|RP3-512E2.2_ENST00000413986.1_RNA	NM_021813.2	NP_068585.1	Q9BYV9	BACH2_HUMAN	BTB and CNC homology 1, basic leucine zipper transcription factor 2	436						cytoplasm (GO:0005737)|nucleus (GO:0005634)	RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001206)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	45		all_cancers(76;7.37e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.0063)		BRCA - Breast invasive adenocarcinoma(108;0.0799)		GTCACAAGCGCTGGAGGAGAA	0.592																																						ENST00000257749.4																			0				central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	45						c.(1306-1308)aGc>aTc		BTB and CNC homology 1, basic leucine zipper transcription factor 2							38	41	40					6																	90660518		2202	4300	6502	SO:0001583	missense	60468					nucleus	protein dimerization activity|sequence-specific DNA binding	g.chr6:90660518C>A	AL121787	CCDS5026.1	6q15	2013-01-10			ENSG00000112182	ENSG00000112182		"BTB/POZ domain containing", "basic leucine zipper proteins"	14078	protein-coding gene	gene with protein product		605394				10949928, 12829606	Standard	NM_001170794		Approved	BTBD25	uc003pnw.3	Q9BYV9	OTTHUMG00000015216	ENST00000257749.4:c.1307G>T	6.37:g.90660518C>A	ENSP00000257749:p.Ser436Ile					RP3-512E2.2_ENST00000413986.1_RNA|RP3-512E2.2_ENST00000445838.1_RNA|BACH2_ENST00000537989.1_Missense_Mutation_p.S436I|BACH2_ENST00000343122.3_Missense_Mutation_p.S436I	p.S436I	NM_021813.2	NP_068585.1	Q9BYV9	BACH2_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0799)	7	2014	-		all_cancers(76;7.37e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.0063)	436					E1P518|Q59H70|Q5T793|Q9NTS5	Missense_Mutation	SNP	ENST00000257749.4	37	c.1307G>T	CCDS5026.1	.	.	.	.	.	.	.	.	.	.	C	13.27	2.186028	0.38609	.	.	ENSG00000112182	ENST00000257749;ENST00000537989;ENST00000343122	T;T;T	0.39229	1.09;1.09;1.09	5.56	5.56	0.83823	.	0.089102	0.85682	D	0.000000	T	0.16471	0.0396	N	0.19112	0.55	0.39728	D	0.971563	P	0.41748	0.761	B	0.38562	0.276	T	0.05194	-1.0900	10	0.51188	T	0.08	-13.6665	10.6146	0.45443	0.0:0.8839:0.0:0.1161	.	436	Q9BYV9	BACH2_HUMAN	I	436	ENSP00000257749:S436I;ENSP00000437473:S436I;ENSP00000345642:S436I	ENSP00000257749:S436I	S	-	2	0	BACH2	90717239	0.992000	0.36948	0.183000	0.23137	0.794000	0.44872	3.527000	0.53517	2.620000	0.88729	0.655000	0.94253	AGC		0.592	BACH2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041522.2	NM_021813		3	41	1	0	0.115264	1	0.117185	3	41					A	90660518	C	A	90660518	3	1	319	1	0	0	0	0	1	0	0	0	1284	797	28	5	1230	5	BACH2	6	90660518	Missense_Mutation	SNP	C	TCGA-KK-A6E8-01A-11D-A31L-08	42624314	90660518	80454549	24	16364											
LAMA2	3908	broad.mit.edu	37	chr6	129637064	129637064	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctgctcctctgattggccAattgacaaggcatgaaattg	10	11	11	9	0	1	3	0	3	1	0	2	3	2	3	2	3	1	3	2	3	3	3			TCGA-KK-A6E8-01A-11D-A31L-08	TCGA-KK-A6E8-11A-11D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ea4c81-9106-43af-b2ce-2352d6fd4978	f79ad5e5-cf51-49cb-aafb-2c6ab3448ecc	g.chr6:129637064A>G	ENST00000421865.2	+	26	3942	c.3893A>G	c.(3892-3894)cAa>cGa	p.Q1298R		NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	1298	Laminin IV type A 2. {ECO:0000255|PROSITE-ProRule:PRU00458}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|myelination in peripheral nervous system (GO:0022011)|positive regulation of synaptic transmission, cholinergic (GO:0032224)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|sarcolemma (GO:0042383)	structural molecule activity (GO:0005198)			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		CTGATTGGCCAATTGACAAGG	0.398																																						ENST00000421865.2																			0				NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194						c.(3892-3894)cAa>cGa		laminin, alpha 2							101	103	102					6																	129637064		2203	4300	6503	SO:0001583	missense	3908				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	g.chr6:129637064A>G	Z26653	CCDS5138.1	6q22-q23	2014-09-17	2008-08-01		ENSG00000196569	ENSG00000196569		"Laminins"	6482	protein-coding gene	gene with protein product	"merosin", "congenital muscular dystrophy"	156225		LAMM		2185464, 8294519	Standard	NM_000426		Approved		uc003qbn.3	P24043	OTTHUMG00000015545	ENST00000421865.2:c.3893A>G	6.37:g.129637064A>G	ENSP00000400365:p.Gln1298Arg						p.Q1298R	NM_000426.3|NM_001079823.1	NP_000417.2|NP_001073291.1	P24043	LAMA2_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)	26	3942	+			1298			Laminin IV type A 2.		Q14736|Q5VUM2|Q93022	Missense_Mutation	SNP	ENST00000421865.2	37	c.3893A>G	CCDS5138.1	.	.	.	.	.	.	.	.	.	.	A	21.1	4.092683	0.76756	.	.	ENSG00000196569	ENST00000358023;ENST00000354729;ENST00000421865	T	0.34667	1.35	5.4	5.4	0.78164	Laminin B type IV (2);Laminin B, subgroup (1);	0.000000	0.85682	D	0.000000	T	0.46483	0.1395	L	0.56280	1.765	0.58432	D	0.999993	P;D	0.69078	0.909;0.997	P;D	0.80764	0.858;0.994	T	0.42068	-0.9473	10	0.46703	T	0.11	.	15.7181	0.77685	1.0:0.0:0.0:0.0	.	1298;1298	A6NF00;P24043	.;LAMA2_HUMAN	R	1298	ENSP00000400365:Q1298R	ENSP00000346769:Q1298R	Q	+	2	0	LAMA2	129678757	1.000000	0.71417	0.908000	0.35775	0.879000	0.50718	8.905000	0.92613	2.169000	0.68431	0.533000	0.62120	CAA		0.398	LAMA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042180.1			44	65	0	0	0	1	0	44	65					G	129637064	A	G	129637064	3	3	319	1	0	0	0	0	1	0	0	0	8606	130	5	4	3995	4	LAMA2	6	129637064	Missense_Mutation	SNP	A	TCGA-KK-A6E8-01A-11D-A31L-08	38976546	129637064	41478003	25	16365											
MUC17	140453	broad.mit.edu	37	chr7	100675730	100675730	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gtacgcctgccagcaccatgCcggttgccacttctgaaatg	8	9	10	14	2	1	1	0	1	1	0	1	1	1	1	5	1	5	3	5	1	2	3			TCGA-KK-A6E8-01A-11D-A31L-08	TCGA-KK-A6E8-11A-11D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ea4c81-9106-43af-b2ce-2352d6fd4978	f79ad5e5-cf51-49cb-aafb-2c6ab3448ecc	g.chr7:100675730C>T	ENST00000306151.4	+	3	1097	c.1033C>T	c.(1033-1035)Ccg>Tcg	p.P345S		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	345	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CAGCACCATGCCGGTTGCCAC	0.488																																						ENST00000306151.4																			0				NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343						c.(1033-1035)Ccg>Tcg		mucin 17, cell surface associated							180	189	186					7																	100675730		2203	4300	6503	SO:0001583	missense	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100675730C>T	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"Mucins"	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.1033C>T	7.37:g.100675730C>T	ENSP00000302716:p.Pro345Ser						p.P345S	NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN			3	1097	+	Lung NSC(181;0.136)|all_lung(186;0.182)		345			59 X approximate tandem repeats.|Ser-rich.		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	c.1033C>T	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	C	0.227	-1.024321	0.02061	.	.	ENSG00000169876	ENST00000306151	T	0.03152	4.03	1.21	-2.42	0.06542	.	.	.	.	.	T	0.01905	0.0060	N	0.19112	0.55	0.09310	N	1	B	0.14438	0.01	B	0.08055	0.003	T	0.48456	-0.9034	9	0.08837	T	0.75	.	3.4219	0.07396	0.1843:0.4139:0.0:0.4018	.	345	Q685J3	MUC17_HUMAN	S	345	ENSP00000302716:P345S	ENSP00000302716:P345S	P	+	1	0	MUC17	100462450	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.844000	0.00736	-1.520000	0.01773	-1.216000	0.01612	CCG		0.488	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		5	326	0	0	0	1	0	5	326					T	100675730	C	T	100675730	3	4	319	1	0	0	0	0	1	0	0	0	9974	739	26	3	1043	3	MUC17	7	100675730	Missense_Mutation	SNP	C	TCGA-KK-A6E8-01A-11D-A31L-08		100675730	58462933	26	16366											
MLL5	55904	broad.mit.edu	37	chr7	104753458	104753458	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aggacctccactttttccttCgagtgctcatccaactgtac	8	13	6	14	1	1	0	1	0	0	0	5	2	4	1	4	1	3	2	4	1	2	4			TCGA-KK-A6E8-01A-11D-A31L-08	TCGA-KK-A6E8-11A-11D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ea4c81-9106-43af-b2ce-2352d6fd4978	f79ad5e5-cf51-49cb-aafb-2c6ab3448ecc	g.chr7:104753458C>T	ENST00000311117.3	+	27	5800	c.5255C>T	c.(5254-5256)tCg>tTg	p.S1752L	SRPK2_ENST00000493638.1_Intron|KMT2E_ENST00000257745.4_Missense_Mutation_p.S1752L|KMT2E_ENST00000334877.4_Missense_Mutation_p.S1710L	NM_182931.2	NP_891847.1	Q8IZD2	KMT2E_HUMAN	lysine (K)-specific methyltransferase 2E	1752	Pro-rich. {ECO:0000255}.				cell cycle arrest (GO:0007050)|cellular response to retinoic acid (GO:0071300)|DNA methylation (GO:0006306)|erythrocyte differentiation (GO:0030218)|histone H3-K4 methylation (GO:0051568)|neutrophil activation (GO:0042119)|neutrophil mediated immunity (GO:0002446)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of transcription, DNA-templated (GO:0045893)|retinoic acid receptor signaling pathway (GO:0048384)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|MLL5-L complex (GO:0070688)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)										CTTTTTCCTTCGAGTGCTCAT	0.552																																						ENST00000334877.4																			0											c.(5128-5130)tCg>tTg		lysine (K)-specific methyltransferase 2E							280	219	240					7																	104753458		2203	4300	6503	SO:0001583	missense	55904							g.chr7:104753458C>T	AF067804	CCDS34723.1	7q22.1	2013-05-09	2013-05-09	2013-05-09	ENSG00000005483	ENSG00000005483		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	18541	protein-coding gene	gene with protein product		608444	"myeloid/lymphoid or mixed-lineage leukemia 5 (trithorax homolog, Drosophila)"	MLL5		9218106, 7672722	Standard	XM_005250493		Approved	HDCMC04P		Q8IZD2	OTTHUMG00000157403	ENST00000311117.3:c.5255C>T	7.37:g.104753458C>T	ENSP00000312379:p.Ser1752Leu					SRPK2_ENST00000493638.1_Intron|KMT2E_ENST00000311117.3_Missense_Mutation_p.S1752L|KMT2E_ENST00000257745.4_Missense_Mutation_p.S1752L	p.S1710L							26	5663	+								B6ZDE4|B6ZDM3|M4K8J3|Q6P5Y2|Q6PKG4|Q6T316|Q86TI3|Q86W12|Q86WG0|Q86WL2|Q8IV78|Q8IWR5|Q8NFF8|Q9NWE7	Missense_Mutation	SNP	ENST00000311117.3	37	c.5129C>T	CCDS34723.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	3.941|3.941	-0.014192|-0.014192	0.07681|0.07681	.|.	.|.	ENSG00000005483|ENSG00000005483	ENST00000393656|ENST00000311117;ENST00000334877;ENST00000351043;ENST00000257745	.|D;D;D	.|0.92858	.|-3.12;-2.87;-3.12	3.96|3.96	3.05|3.05	0.35203|0.35203	.|.	.|0.701876	.|0.11607	.|N	.|0.547170	.|D	.|0.83908	.|0.5356	N|N	0.19112|0.19112	0.55|0.55	0.80722|0.80722	D|D	1|1	.|B;B	.|0.34181	.|0.44;0.091	.|B;B	.|0.22386	.|0.039;0.01	.|T	.|0.78097	.|-0.2337	.|10	0.02654|0.45353	T|T	1|0.12	.|.	12.1068|12.1068	0.53818|0.53818	0.0:0.913:0.0:0.087|0.0:0.913:0.0:0.087	.|.	.|1672;1752	.|F8W6H1;Q8IZD2	.|.;MLL5_HUMAN	X|L	1535|1752;1710;1672;1752	.|ENSP00000312379:S1752L;ENSP00000335599:S1710L;ENSP00000257745:S1752L	ENSP00000377266:R1535X|ENSP00000257745:S1752L	R|S	+|+	1|2	2|0	MLL5|MLL5	104540694|104540694	0.861000|0.861000	0.29849|0.29849	0.263000|0.263000	0.24496|0.24496	0.621000|0.621000	0.37620|0.37620	3.180000|3.180000	0.50895|0.50895	0.763000|0.763000	0.33175|0.33175	0.460000|0.460000	0.39030|0.39030	CGA|TCG		0.552	KMT2E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348697.1			4	162	0	0	0	1	0	4	162					T	104753458	C	T	104753458	3	4	319	1	0	0	0	0	1	0	0	0	9624	893	31	2	5353	2	MLL5	7	104753458	Missense_Mutation	SNP	C	TCGA-KK-A6E8-01A-11D-A31L-08	4077728	104753458	54385205	27	16367											
THAP1	55145	broad.mit.edu	37	chr8	42693430	42693430	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caacctgggaaacaggaggcGgtaaaggaggtgggggaagc	13	3	19	6	1	0	0	0	0	0	0	0	4	0	4	1	8	3	1	1	8	5	1			TCGA-KK-A6E8-01A-11D-A31L-08	TCGA-KK-A6E8-11A-11D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ea4c81-9106-43af-b2ce-2352d6fd4978	f79ad5e5-cf51-49cb-aafb-2c6ab3448ecc	g.chr8:42693430G>A	ENST00000254250.3	-	3	547	c.317C>T	c.(316-318)cCg>cTg	p.P106L	THAP1_ENST00000345117.2_Missense_Mutation_p.R41C|THAP1_ENST00000532093.1_5'Flank	NM_018105.2	NP_060575.1	Q9NVV9	THAP1_HUMAN	THAP domain containing, apoptosis associated protein 1	106	Pro-rich.				cell cycle (GO:0007049)|endothelial cell proliferation (GO:0001935)|regulation of mitotic cell cycle (GO:0007346)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			NS(1)|lung(4)|prostate(1)|skin(1)	7	all_lung(13;3.33e-12)|Lung NSC(13;9.17e-11)|Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00026)|Acute lymphoblastic leukemia(644;0.000299)|Lung NSC(58;0.000992)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	Lung(22;0.0377)|LUSC - Lung squamous cell carcinoma(45;0.0869)			AACAGGAGGCGGTAAAGGAGG	0.413																																						ENST00000254250.3																			0				NS(1)|lung(4)|prostate(1)|skin(1)	7						c.(316-318)cCg>cTg		THAP domain containing, apoptosis associated protein 1							118	139	132					8																	42693430		2203	4300	6503	SO:0001583	missense	55145				cell cycle|endothelial cell proliferation|regulation of mitotic cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	PML body	sequence-specific DNA binding|zinc ion binding	g.chr8:42693430G>A	BC021721	CCDS6136.1, CCDS6137.1	8p11.1	2013-01-25			ENSG00000131931	ENSG00000131931		"THAP (C2CH-type zinc finger) domain containing"	20856	protein-coding gene	gene with protein product		609520	"dystonia 6, torsion (autosomal dominant)"	DYT6		12575992, 12717420, 19182804	Standard	NM_018105		Approved	FLJ10477, 4833431A01Rik	uc003xpk.3	Q9NVV9	OTTHUMG00000165276	ENST00000254250.3:c.317C>T	8.37:g.42693430G>A	ENSP00000254250:p.Pro106Leu					THAP1_ENST00000345117.2_Missense_Mutation_p.R41C	p.P106L	NM_018105.2	NP_060575.1	Q9NVV9	THAP1_HUMAN	Lung(22;0.0377)|LUSC - Lung squamous cell carcinoma(45;0.0869)		3	547	-	all_lung(13;3.33e-12)|Lung NSC(13;9.17e-11)|Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00026)|Acute lymphoblastic leukemia(644;0.000299)|Lung NSC(58;0.000992)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	106			Pro-rich.		A6NCB6|D3DSY5|H9KV49|Q53FQ1|Q6IA99	Missense_Mutation	SNP	ENST00000254250.3	37	c.317C>T	CCDS6136.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	1.553|1.553	-0.538720|-0.538720	0.04053|0.04053	.|.	.|.	ENSG00000131931|ENSG00000131931	ENST00000254250|ENST00000345117	D|D	0.97850|0.97455	-4.57|-4.39	4.48|4.48	3.59|3.59	0.41128|0.41128	.|.	0.749866|.	0.13400|.	N|.	0.390756|.	D|D	0.95996|0.95996	0.8696|0.8696	.|.	.|.	.|.	0.09310|0.09310	N|N	1|1	B|.	0.02656|.	0.0|.	B|.	0.01281|.	0.0|.	D|D	0.91833|0.91833	0.5477|0.5477	9|6	0.20046|0.87932	T|D	0.44|0	-6.649|-6.649	7.8624|7.8624	0.29517|0.29517	0.0817:0.0:0.7562:0.1621|0.0817:0.0:0.7562:0.1621	.|.	106|.	Q9NVV9|.	THAP1_HUMAN|.	L|C	106|41	ENSP00000254250:P106L|ENSP00000344966:R41C	ENSP00000254250:P106L|ENSP00000344966:R41C	P|R	-|-	2|1	0|0	THAP1|THAP1	42812587|42812587	0.173000|0.173000	0.23056|0.23056	0.040000|0.040000	0.18447|0.18447	0.073000|0.073000	0.16967|0.16967	1.578000|1.578000	0.36525|0.36525	1.202000|1.202000	0.43218|0.43218	0.585000|0.585000	0.79938|0.79938	CCG|CGC		0.413	THAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383161.1	NM_018105		7	113	0	0	0	1	0	7	113					A	42693430	G	A	42693430	3	1	319	1	0	0	0	0	1	0	0	0	15838	1116	39	2	328	2	THAP1	8	42693430	Missense_Mutation	SNP	G	TCGA-KK-A6E8-01A-11D-A31L-08		42693430	103670592	28	16368											
CA1	759	broad.mit.edu	37	chr8	86250622	86250622	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttcactggttttaatatcaaCaggggactggttatttccat	10	16	8	7	0	2	0	2	0	0	0	3	1	3	1	1	4	1	2	1	4	4	6			TCGA-KK-A6E8-01A-11D-A31L-08	TCGA-KK-A6E8-11A-11D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ea4c81-9106-43af-b2ce-2352d6fd4978	f79ad5e5-cf51-49cb-aafb-2c6ab3448ecc	g.chr8:86250622C>T	ENST00000523953.1	-	4	1140	c.94G>A	c.(94-96)Gtt>Att	p.V32I	CA1_ENST00000431316.1_Missense_Mutation_p.V32I|CA1_ENST00000518341.1_5'UTR|CA1_ENST00000256119.5_Missense_Mutation_p.V32I|CA1_ENST00000522389.1_Intron|CA1_ENST00000432364.2_Missense_Mutation_p.V32I|CA1_ENST00000542576.1_Missense_Mutation_p.V32I|CA1_ENST00000523022.1_Missense_Mutation_p.V32I			P00915	CAH1_HUMAN	carbonic anhydrase I	32					bicarbonate transport (GO:0015701)|one-carbon metabolic process (GO:0006730)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	carbonate dehydratase activity (GO:0004089)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)	13		all_lung(136;4.89e-06)			Acetazolamide(DB00819)|Amlodipine(DB00381)|Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Brinzolamide(DB01194)|Chlorothiazide(DB00880)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Diclofenamide(DB01144)|Dorzolamide(DB00869)|Ethinamate(DB01031)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methazolamide(DB00703)|Methocarbamol(DB00423)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021)|Zonisamide(DB00909)	TTAATATCAACAGGGGACTGG	0.423																																						ENST00000523953.1																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)	13						c.(94-96)Gtt>Att		carbonic anhydrase I	Acetazolamide(DB00819)|Amlodipine(DB00381)|Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Brinzolamide(DB01194)|Chlorothiazide(DB00880)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Dichlorphenamide(DB01144)|Ethinamate(DB01031)|Ethoxzolamide(DB00311)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Levetiracetam(DB01202)|Methazolamide(DB00703)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021)|Verapamil(DB00661)|Zonisamide(DB00909)						232	234	233					8																	86250622		2203	4300	6503	SO:0001583	missense	759				one-carbon metabolic process	Golgi apparatus	carbonate dehydratase activity|zinc ion binding	g.chr8:86250622C>T	M33987	CCDS6237.1	8q21.2	2006-03-10				ENSG00000133742	4.2.1.1	"Carbonic anhydrases"	1368	protein-coding gene	gene with protein product		114800				1916821	Standard	NM_001164830		Approved	Car1	uc003ydi.3	P00915		ENST00000523953.1:c.94G>A	8.37:g.86250622C>T	ENSP00000430656:p.Val32Ile					CA1_ENST00000431316.1_Missense_Mutation_p.V32I|CA1_ENST00000522389.1_Intron|CA1_ENST00000523022.1_Missense_Mutation_p.V32I|CA1_ENST00000518341.1_5'UTR|CA1_ENST00000432364.2_Missense_Mutation_p.V32I|CA1_ENST00000256119.5_Missense_Mutation_p.V32I|CA1_ENST00000542576.1_Missense_Mutation_p.V32I	p.V32I			P00915	CAH1_HUMAN			4	1140	-		all_lung(136;4.89e-06)	32						Missense_Mutation	SNP	ENST00000523953.1	37	c.94G>A	CCDS6237.1	.	.	.	.	.	.	.	.	.	.	C	0.946	-0.707809	0.03230	.	.	ENSG00000133742	ENST00000523953;ENST00000256119;ENST00000431316;ENST00000542576;ENST00000432364;ENST00000523022;ENST00000517618;ENST00000517590;ENST00000521846;ENST00000522579;ENST00000522814;ENST00000522662;ENST00000523858	T;T;T;T;T;T;T;T;T;T;T;T;T	0.40476	1.03;1.03;1.03;1.03;1.03;1.03;1.03;1.03;1.03;1.03;1.03;1.03;1.03	5.53	2.94	0.34122	Carbonic anhydrase, alpha-class, catalytic domain (4);	0.143577	0.64402	N	0.000008	T	0.09335	0.0230	N	0.00242	-1.785	0.31179	N	0.70232	B	0.02656	0.0	B	0.04013	0.001	T	0.35500	-0.9786	10	0.02654	T	1	-13.4445	9.1647	0.37043	0.0:0.1545:0.0:0.8455	.	32	P00915	CAH1_HUMAN	I	32	ENSP00000430656:V32I;ENSP00000256119:V32I;ENSP00000392338:V32I;ENSP00000443517:V32I;ENSP00000401551:V32I;ENSP00000429798:V32I;ENSP00000430861:V32I;ENSP00000429843:V32I;ENSP00000430471:V32I;ENSP00000427852:V32I;ENSP00000430737:V32I;ENSP00000430372:V32I;ENSP00000430975:V32I	ENSP00000256119:V32I	V	-	1	0	CA1	86437874	0.998000	0.40836	0.064000	0.19789	0.532000	0.34746	3.389000	0.52516	0.359000	0.24239	-0.438000	0.05819	GTT		0.423	CA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381067.1	NM_001738		10	394	0	0	0	1	0	10	394					T	86250622	C	T	86250622	3	4	319	1	0	0	0	0	1	0	0	0	2510	478	17	3	715	3	CA1	8	86250622	Missense_Mutation	SNP	C	TCGA-KK-A6E8-01A-11D-A31L-08	43557192	86250622	60113400	29	16369											
PKHD1L1	93035	broad.mit.edu	37	chr8	110396299	110396299	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tgacattattctttttacagGcaaaaagttttagaacccca	14	14	5	8	0	1	2	0	1	1	1	1	2	1	2	2	1	2	2	2	1	6	7			TCGA-KK-A6E8-01A-11D-A31L-08	TCGA-KK-A6E8-11A-11D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ea4c81-9106-43af-b2ce-2352d6fd4978	f79ad5e5-cf51-49cb-aafb-2c6ab3448ecc	g.chr8:110396299G>A	ENST00000378402.5	+	5	522	c.418G>A	c.(418-420)Gca>Aca	p.A140T		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	140					immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			CTTTTTACAGGCAAAAAGTTT	0.289										HNSCC(38;0.096)																												ENST00000378402.5																			0				NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263						c.e5-1		polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1							117	116	117					8																	110396299		1803	4063	5866	SO:0001630	splice_region_variant	93035				immune response	cytosol|extracellular space|integral to membrane	receptor activity	g.chr8:110396299G>A	AY219181	CCDS47911.1	8q23	2003-03-28			ENSG00000205038	ENSG00000205038			20313	protein-coding gene	gene with protein product		607843				12620974	Standard	NM_177531		Approved		uc003yne.3	Q86WI1	OTTHUMG00000164934	ENST00000378402.5:c.418-1G>A	8.37:g.110396299G>A		HNSCC(38;0.096)					p.A140_splice	NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)		5	522	+			140					Q567P2|Q9UF27	Splice_Site	SNP	ENST00000378402.5	37	c.417_splice	CCDS47911.1	.	.	.	.	.	.	.	.	.	.	G	5.808	0.333461	0.11013	.	.	ENSG00000205038	ENST00000378402	D	0.85484	-1.99	5.95	2.18	0.27775	Immunoglobulin-like fold (1);	0.385320	0.25636	N	0.029315	T	0.71134	0.3304	N	0.17674	0.51	0.26515	N	0.974523	B	0.06786	0.001	B	0.09377	0.004	T	0.55379	-0.8150	9	.	.	.	.	9.5911	0.39545	0.3248:0.0:0.6752:0.0	.	140	Q86WI1	PKHL1_HUMAN	T	140	ENSP00000367655:A140T	.	A	+	1	0	PKHD1L1	110465475	0.980000	0.34600	1.000000	0.80357	0.317000	0.28152	0.353000	0.20130	0.602000	0.29896	0.650000	0.86243	GCA		0.289	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381017.1	NM_177531	Missense_Mutation	4	171	0	0	0	1	0	4	171					A	110396299	G	A	110396299	5	1	319	1	0	0	0	0	0	0	1	0	11972	1217	42	3	436	3	PKHD1L1	8	110396299	Splice_Site	SNP	G	TCGA-KK-A6E8-01A-11D-A31L-08	24145677	110396299	35967723	30	16370											
ST3GAL1	6482	broad.mit.edu	37	chr8	134472099	134472099	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atcgtgcacccccgtcttgcGaaaagcccccgcggatgggt	7	7	12	15	5	1	0	0	0	1	0	2	2	1	1	4	2	3	1	4	2	2	1			TCGA-KK-A6E8-01A-11D-A31L-08	TCGA-KK-A6E8-11A-11D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ea4c81-9106-43af-b2ce-2352d6fd4978	f79ad5e5-cf51-49cb-aafb-2c6ab3448ecc	g.chr8:134472099G>A	ENST00000319914.5	-	9	1958	c.931C>T	c.(931-933)Cgc>Tgc	p.R311C	ST3GAL1_ENST00000399640.2_Missense_Mutation_p.R311C|ST3GAL1_ENST00000522652.1_Missense_Mutation_p.R311C|ST3GAL1_ENST00000521180.1_Missense_Mutation_p.R311C			Q11201	SIA4A_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase 1	311					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|cellular protein modification process (GO:0006464)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|N-acetylneuraminate metabolic process (GO:0006054)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation (GO:0006487)|protein phosphorylation (GO:0006468)|sialylation (GO:0097503)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)|membrane (GO:0016020)	beta-galactoside (CMP) alpha-2,3-sialyltransferase activity (GO:0003836)			endometrium(3)|large_intestine(2)|lung(11)|prostate(1)	17	all_epithelial(106;1.53e-23)|Lung NSC(106;3.15e-07)|all_lung(105;1.26e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.00721)			CCCGTCTTGCGAAAAGCCCCC	0.562																																						ENST00000319914.5																			0				endometrium(3)|large_intestine(2)|lung(11)|prostate(1)	17						c.(931-933)Cgc>Tgc		ST3 beta-galactoside alpha-2,3-sialyltransferase 1							158	153	154					8																	134472099		2203	4300	6503	SO:0001583	missense	6482				protein glycosylation	extracellular region|Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,3-sialyltransferase activity	g.chr8:134472099G>A	L29555	CCDS6373.1	8q24.22	2013-03-01	2003-01-14	2005-02-07	ENSG00000008513	ENSG00000008513	2.4.99.4	"Sialyltransferases"	10862	protein-coding gene	gene with protein product	"ST3Gal I"	607187	"sialyltransferase 4A (beta-galactosidase alpha-2,3-sialytransferase)"	SIAT4A		10504389, 7655169	Standard	NM_003033		Approved	ST3O, SIATFL, ST3GalA.1	uc003yuk.2	Q11201	OTTHUMG00000164534	ENST00000319914.5:c.931C>T	8.37:g.134472099G>A	ENSP00000318445:p.Arg311Cys					ST3GAL1_ENST00000399640.2_Missense_Mutation_p.R311C|ST3GAL1_ENST00000522652.1_Missense_Mutation_p.R311C|ST3GAL1_ENST00000521180.1_Missense_Mutation_p.R311C	p.R311C			Q11201	SIA4A_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.00721)		9	1958	-	all_epithelial(106;1.53e-23)|Lung NSC(106;3.15e-07)|all_lung(105;1.26e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)		311					O60677|Q9UN51	Missense_Mutation	SNP	ENST00000319914.5	37	c.931C>T	CCDS6373.1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.252694	0.80135	.	.	ENSG00000008513	ENST00000319914;ENST00000399640;ENST00000521180;ENST00000522652	T;T;T;T	0.33438	1.41;1.41;1.41;1.41	4.99	4.09	0.47781	.	0.054641	0.64402	D	0.000001	T	0.59500	0.2198	M	0.87682	2.9	0.80722	D	1	D	0.89917	1.0	D	0.72338	0.977	T	0.68089	-0.5501	10	0.87932	D	0	-24.1544	13.9312	0.63996	0.0:0.0:0.8469:0.1531	.	311	Q11201	SIA4A_HUMAN	C	311	ENSP00000318445:R311C;ENSP00000414073:R311C;ENSP00000428540:R311C;ENSP00000430515:R311C	ENSP00000318445:R311C	R	-	1	0	ST3GAL1	134541281	1.000000	0.71417	0.876000	0.34364	0.619000	0.37552	5.529000	0.67135	1.184000	0.42957	0.561000	0.74099	CGC		0.562	ST3GAL1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379132.1	NM_003033		13	386	0	0	0	1	0	13	386					A	134472099	G	A	134472099	3	1	319	1	0	0	0	0	1	0	0	0	15213	1058	37	2	95	2	ST3GAL1	8	134472099	Missense_Mutation	SNP	G	TCGA-KK-A6E8-01A-11D-A31L-08	24075800	134472099	11891923	31	16371											
LY6K	54742	broad.mit.edu	37	chr8	143784549	143784549	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atggttgcgaagcagtgctcCgctggttgtgcagcgatgga	7	10	16	8	3	0	0	0	0	0	0	1	3	1	1	1	3	5	6	1	3	1	2			TCGA-KK-A6E8-01A-11D-A31L-08	TCGA-KK-A6E8-11A-11D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ea4c81-9106-43af-b2ce-2352d6fd4978	f79ad5e5-cf51-49cb-aafb-2c6ab3448ecc	g.chr8:143784549C>T	ENST00000292430.6	+	3	675	c.258C>T	c.(256-258)tcC>tcT	p.S86S	CTD-2292P10.4_ENST00000520572.1_RNA|LY6K_ENST00000519387.1_Missense_Mutation_p.R76C|LY6K_ENST00000561179.1_Silent_p.S144S|LY6K_ENST00000522591.1_3'UTR|LY6K_ENST00000519390.1_3'UTR			Q17RY6	LY6K_HUMAN	lymphocyte antigen 6 complex, locus K	86	UPAR/Ly6.					anchored component of membrane (GO:0031225)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)	10	all_cancers(97;3.96e-12)|all_epithelial(106;1.19e-08)|Lung NSC(106;0.000413)|all_lung(105;0.00106)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)					AGCAGTGCTCCGCTGGTTGTG	0.483																																						ENST00000519387.1																			0				NS(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)	10						c.(226-228)Cgc>Tgc		lymphocyte antigen 6 complex, locus K							68	65	66					8																	143784549		2203	4300	6503	SO:0001819	synonymous_variant	54742					anchored to membrane|cytoplasm|extracellular region|nucleolus|plasma membrane		g.chr8:143784549C>T	AK092545	CCDS6385.1, CCDS6385.2, CCDS59114.1	8q24.3	2009-08-06				ENSG00000160886			24225	protein-coding gene	gene with protein product	"cancer/testis antigen 97"	615093				12516096	Standard	NM_017527		Approved	HSJ001348, FLJ35226, CT97	uc011ljv.2	Q17RY6		ENST00000292430.6:c.258C>T	8.37:g.143784549C>T						LY6K_ENST00000561179.1_Silent_p.S144S|LY6K_ENST00000519390.1_3'UTR|LY6K_ENST00000292430.6_Silent_p.S86S|LY6K_ENST00000522591.1_3'UTR|CTD-2292P10.4_ENST00000520572.1_RNA	p.R76C			Q17RY6	LY6K_HUMAN			3	640	+	all_cancers(97;3.96e-12)|all_epithelial(106;1.19e-08)|Lung NSC(106;0.000413)|all_lung(105;0.00106)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)		0			UPAR/Ly6.		G3V116|O15227|Q9BVD7	Missense_Mutation	SNP	ENST00000292430.6	37	c.226C>T	CCDS6385.2	.	.	.	.	.	.	.	.	.	.	C	4.607	0.112890	0.08831	.	.	ENSG00000160886	ENST00000519387	.	.	.	3.16	-6.32	0.01995	.	.	.	.	.	T	0.24812	0.0602	.	.	.	0.09310	N	1	B	0.12630	0.006	B	0.04013	0.001	T	0.16958	-1.0385	7	0.87932	D	0	.	1.971	0.03406	0.2287:0.2644:0.3541:0.1527	.	134	G3V116	.	C	134	.	ENSP00000429695:R134C	R	+	1	0	LY6K	143781551	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-3.941000	0.00329	-3.179000	0.00223	-2.275000	0.00273	CGC		0.483	LY6K-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379893.2	NM_017527		4	121	0	0	0	1	0	4	121					T	143784549	C	T	143784549	2	4	319	1	0	0	0	0	0	0	0	1	9098	652	23	2		2	LY6K	8	143784549	Silent	SNP	C	TCGA-KK-A6E8-01A-11D-A31L-08	9312450	143784549	2579473	32	16372											
C9orf3	84909	broad.mit.edu	37	chr9	97522701	97522701	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacgctcgctgcagccaggcTcctggctgtggggaactcct	5	9	13	14	2	0	0	0	0	0	0	3	1	2	1	3	4	4	5	3	4	2	1			TCGA-KK-A6E8-01A-11D-A31L-08	TCGA-KK-A6E8-11A-11D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ea4c81-9106-43af-b2ce-2352d6fd4978	f79ad5e5-cf51-49cb-aafb-2c6ab3448ecc	g.chr9:97522701T>A	ENST00000375315.2	+	1	636	c.636T>A	c.(634-636)gcT>gcA	p.A212A	C9orf3_ENST00000277198.2_Silent_p.A212A|C9orf3_ENST00000297979.5_Silent_p.A212A	NM_001193329.1	NP_001180258.1	Q8N6M6	AMPO_HUMAN	chromosome 9 open reading frame 3	212					leukotriene biosynthetic process (GO:0019370)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(323;0.000275)		GCAGCCAGGCTCCTGGCTGTG	0.502																																						ENST00000375315.2																			0				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						c.(634-636)gcT>gcA		chromosome 9 open reading frame 3							63	56	58					9																	97522701		2203	4300	6503	SO:0001819	synonymous_variant	84909				leukotriene biosynthetic process|proteolysis	cytoplasm	aminopeptidase activity|metallopeptidase activity|zinc ion binding	g.chr9:97522701T>A	AF043896	CCDS6713.1, CCDS55327.1, CCDS55328.1	9q22	2013-06-27			ENSG00000148120	ENSG00000148120			1361	protein-coding gene	gene with protein product	aminopeptidase O					15687497	Standard	NM_001193329		Approved	C90RF3, FLJ14675, APO, AOPEP, AP-O	uc004ava.3	Q8N6M6	OTTHUMG00000020276	ENST00000375315.2:c.636T>A	9.37:g.97522701T>A						C9orf3_ENST00000297979.5_Silent_p.A212A|C9orf3_ENST00000277198.2_Silent_p.A212A	p.A212A	NM_001193329.1	NP_001180258.1	Q8N6M6	AMPO_HUMAN		OV - Ovarian serous cystadenocarcinoma(323;0.000275)	1	636	+			212					Q5T9B1|Q5T9B3|Q5T9B4|Q8WUL6|Q96M23|Q96SS1	Silent	SNP	ENST00000375315.2	37	c.636T>A	CCDS55328.1																																																																																				0.502	C9orf3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_032823		20	21	0	0	0	1	0	20	21					A	97522701	T	A	97522701	2	1	319	1	0	0	0	0	0	0	0	1	2477	1538	54	5		5	C9orf3	9	97522701	Silent	SNP	T	TCGA-KK-A6E8-01A-11D-A31L-08		97522701	43690730	33	16373											
LRRC4C	57689	broad.mit.edu	37	chr11	40137425	40137425	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gtatacaaaagctccattcgGgatggtagtaagacgattgt	13	11	11	6	2	0	1	0	0	0	1	2	3	1	2	1	2	2	4	1	2	6	6			TCGA-KK-A6E8-01A-11D-A31L-08	TCGA-KK-A6E8-11A-11D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ea4c81-9106-43af-b2ce-2352d6fd4978	f79ad5e5-cf51-49cb-aafb-2c6ab3448ecc	g.chr11:40137425G>A	ENST00000278198.2	-	2	2381	c.418C>T	c.(418-420)Ccg>Tcg	p.P140S	LRRC4C_ENST00000527150.1_Missense_Mutation_p.P140S|LRRC4C_ENST00000528697.1_Missense_Mutation_p.P140S|LRRC4C_ENST00000530763.1_Missense_Mutation_p.P140S			Q9HCJ2	LRC4C_HUMAN	leucine rich repeat containing 4C	140					regulation of axonogenesis (GO:0050770)	cell junction (GO:0030054)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|postsynaptic membrane (GO:0045211)				NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86		all_lung(304;0.0575)|Lung NSC(402;0.138)				GCTCCATTCGGGATGGTAGTA	0.428																																						ENST00000278198.2																			0				NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86						c.(418-420)Ccg>Tcg		leucine rich repeat containing 4C							68	70	70					11																	40137425		2203	4300	6503	SO:0001583	missense	57689				regulation of axonogenesis	integral to membrane	protein binding	g.chr11:40137425G>A	AB046800	CCDS31464.1	11p12	2013-01-14				ENSG00000148948		"Immunoglobulin superfamily / I-set domain containing"	29317	protein-coding gene	gene with protein product		608817				14595443	Standard	NM_020929		Approved	KIAA1580, NGL-1	uc031pzu.1	Q9HCJ2		ENST00000278198.2:c.418C>T	11.37:g.40137425G>A	ENSP00000278198:p.Pro140Ser					LRRC4C_ENST00000528697.1_Missense_Mutation_p.P140S|LRRC4C_ENST00000527150.1_Missense_Mutation_p.P140S|LRRC4C_ENST00000530763.1_Missense_Mutation_p.P140S	p.P140S			Q9HCJ2	LRC4C_HUMAN			2	2381	-		all_lung(304;0.0575)|Lung NSC(402;0.138)	140					A8K0T1|Q7L0N3	Missense_Mutation	SNP	ENST00000278198.2	37	c.418C>T	CCDS31464.1	.	.	.	.	.	.	.	.	.	.	G	18.21	3.572850	0.65765	.	.	ENSG00000148948	ENST00000278198;ENST00000527150;ENST00000528697;ENST00000530763	T;T;T;T	0.08008	3.14;3.14;3.14;3.14	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	T	0.24005	0.0581	L	0.45698	1.435	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.00260	-1.1869	10	0.28530	T	0.3	.	19.0894	0.93221	0.0:0.0:1.0:0.0	.	140	Q9HCJ2	LRC4C_HUMAN	S	140	ENSP00000278198:P140S;ENSP00000436976:P140S;ENSP00000437132:P140S;ENSP00000434761:P140S	ENSP00000278198:P140S	P	-	1	0	LRRC4C	40094001	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	9.813000	0.99286	2.754000	0.94517	0.650000	0.86243	CCG		0.428	LRRC4C-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389499.1	NM_020929		12	39	0	0	0	1	0	12	39					A	40137425	G	A	40137425	3	1	319	1	0	0	0	0	1	0	0	0	9008	1232	43	3	1508	3	LRRC4C	11	40137425	Missense_Mutation	SNP	G	TCGA-KK-A6E8-01A-11D-A31L-08		40137425	94869091	34	16374			1	37		2	2	44	G		8.19497e-05
LRRC4C	57689	broad.mit.edu	37	chr11	40137468	40137468	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	aagagttccagagtgttgagGttcgccagaccattgaaagc	12	9	12	8	1	0	5	0	2	0	3	2	5	1	5	3	1	1	3	3	1	2	4			TCGA-KK-A6E8-01A-11D-A31L-08	TCGA-KK-A6E8-11A-11D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ea4c81-9106-43af-b2ce-2352d6fd4978	f79ad5e5-cf51-49cb-aafb-2c6ab3448ecc	g.chr11:40137468G>A	ENST00000278198.2	-	2	2338	c.375C>T	c.(373-375)aaC>aaT	p.N125N	LRRC4C_ENST00000527150.1_Silent_p.N125N|LRRC4C_ENST00000528697.1_Silent_p.N125N|LRRC4C_ENST00000530763.1_Silent_p.N125N			Q9HCJ2	LRC4C_HUMAN	leucine rich repeat containing 4C	125					regulation of axonogenesis (GO:0050770)	cell junction (GO:0030054)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|postsynaptic membrane (GO:0045211)				NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86		all_lung(304;0.0575)|Lung NSC(402;0.138)				GAGTGTTGAGGTTCGCCAGAC	0.438																																						ENST00000278198.2																			0				NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86						c.(373-375)aaC>aaT		leucine rich repeat containing 4C							72	72	72					11																	40137468		2203	4300	6503	SO:0001819	synonymous_variant	57689				regulation of axonogenesis	integral to membrane	protein binding	g.chr11:40137468G>A	AB046800	CCDS31464.1	11p12	2013-01-14				ENSG00000148948		"Immunoglobulin superfamily / I-set domain containing"	29317	protein-coding gene	gene with protein product		608817				14595443	Standard	NM_020929		Approved	KIAA1580, NGL-1	uc031pzu.1	Q9HCJ2		ENST00000278198.2:c.375C>T	11.37:g.40137468G>A						LRRC4C_ENST00000528697.1_Silent_p.N125N|LRRC4C_ENST00000527150.1_Silent_p.N125N|LRRC4C_ENST00000530763.1_Silent_p.N125N	p.N125N			Q9HCJ2	LRC4C_HUMAN			2	2338	-		all_lung(304;0.0575)|Lung NSC(402;0.138)	125					A8K0T1|Q7L0N3	Silent	SNP	ENST00000278198.2	37	c.375C>T	CCDS31464.1																																																																																				0.438	LRRC4C-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389499.1	NM_020929		9	43	0	0	0	1	0	9	43					A	40137468	G	A	40137468	2	1	319	1	0	0	0	0	0	0	0	1	9008	1252	44	3		3	LRRC4C	11	40137468	Silent	SNP	G	TCGA-KK-A6E8-01A-11D-A31L-08	43	40137468	94869048	35	16375			1	37		2	2	44	G		8.19497e-05
OR5B3	441608	broad.mit.edu	37	chr11	58170679	58170679	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acagctgaagagtagcaaaaGtccactagagacaagttact	17	7	9	8	0	0	3	0	1	0	2	1	4	1	3	1	0	3	4	1	0	7	3			TCGA-KK-A6E8-01A-11D-A31L-08	TCGA-KK-A6E8-11A-11D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ea4c81-9106-43af-b2ce-2352d6fd4978	f79ad5e5-cf51-49cb-aafb-2c6ab3448ecc	g.chr11:58170679G>T	ENST00000309403.2	-	1	203	c.204C>A	c.(202-204)gaC>gaA	p.D68E		NM_001005469.1	NP_001005469.1	Q8NH48	OR5B3_HUMAN	olfactory receptor, family 5, subfamily B, member 3	68						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(6)|upper_aerodigestive_tract(1)	34	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				AGTAGCAAAAGTCCACTAGAG	0.413																																						ENST00000309403.2																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(6)|upper_aerodigestive_tract(1)	34						c.(202-204)gaC>gaA		olfactory receptor, family 5, subfamily B, member 3							89	86	87					11																	58170679		2201	4295	6496	SO:0001583	missense	441608				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:58170679G>T	AB065545	CCDS31549.1	11q12.1	2012-08-09			ENSG00000172769	ENSG00000172769		"GPCR / Class A : Olfactory receptors"	8324	protein-coding gene	gene with protein product				OR5B13			Standard	NM_001005469		Approved	OST129	uc010rkf.2	Q8NH48	OTTHUMG00000167516	ENST00000309403.2:c.204C>A	11.37:g.58170679G>T	ENSP00000308270:p.Asp68Glu						p.D68E	NM_001005469.1	NP_001005469.1	Q8NH48	OR5B3_HUMAN			1	203	-	Esophageal squamous(5;0.0027)	Breast(21;0.0778)	68					Q6IEV6	Missense_Mutation	SNP	ENST00000309403.2	37	c.204C>A	CCDS31549.1	.	.	.	.	.	.	.	.	.	.	g	13.36	2.214315	0.39102	.	.	ENSG00000172769	ENST00000309403	T	0.01152	5.26	4.19	-3.08	0.05347	GPCR, rhodopsin-like superfamily (1);	0.000000	0.49916	D	0.000121	T	0.03136	0.0092	L	0.46885	1.475	0.09310	N	0.999997	D	0.76494	0.999	D	0.74348	0.983	T	0.04440	-1.0951	10	0.87932	D	0	-55.2716	11.6887	0.51503	0.3207:0.0:0.6793:0.0	.	68	Q8NH48	OR5B3_HUMAN	E	68	ENSP00000308270:D68E	ENSP00000308270:D68E	D	-	3	2	OR5B3	57927255	0.000000	0.05858	0.170000	0.22879	0.444000	0.32077	-1.573000	0.02134	-0.463000	0.06973	0.585000	0.79938	GAC		0.413	OR5B3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394886.1	NM_001005469		44	74	1	0	4.01765e-15	1	4.53846e-15	44	74					T	58170679	G	T	58170679	3	4	319	1	0	0	0	0	1	0	0	0	11152	1020	36	5	742	5	OR5B3	11	58170679	Missense_Mutation	SNP	G	TCGA-KK-A6E8-01A-11D-A31L-08	18033211	58170679	76835837	36	16376											
TRPC6	7225	broad.mit.edu	37	chr11	101347235	101347235	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	attccttggggccctgagtcCagatttctttacattcagcc	7	14	8	12	0	2	2	1	1	1	1	4	2	4	2	4	2	2	0	4	2	1	6			TCGA-KK-A6E8-01A-11D-A31L-08	TCGA-KK-A6E8-11A-11D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ea4c81-9106-43af-b2ce-2352d6fd4978	f79ad5e5-cf51-49cb-aafb-2c6ab3448ecc	g.chr11:101347235C>A	ENST00000344327.3	-	6	1965	c.1541G>T	c.(1540-1542)tGg>tTg	p.W514L	TRPC6_ENST00000360497.4_Missense_Mutation_p.W459L|TRPC6_ENST00000348423.4_Missense_Mutation_p.W398L|TRPC6_ENST00000532133.1_Intron	NM_004621.5	NP_004612.2	Q9Y210	TRPC6_HUMAN	transient receptor potential cation channel, subfamily C, member 6	514					aging (GO:0007568)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cation transport (GO:0006812)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to hypoxia (GO:0071456)|ion transmembrane transport (GO:0034220)|platelet activation (GO:0030168)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of ion transmembrane transporter activity (GO:0032414)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|slit diaphragm (GO:0036057)	inositol 1,4,5 trisphosphate binding (GO:0070679)|store-operated calcium channel activity (GO:0015279)			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(14)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162)		BRCA - Breast invasive adenocarcinoma(274;0.0442)		GCCCTGAGTCCAGATTTCTTT	0.383																																					Colon(166;1315 1927 11094 12848 34731)	ENST00000344327.3																			0				autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(14)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						c.(1540-1542)tGg>tTg		transient receptor potential cation channel, subfamily C, member 6							67	65	66					11																	101347235		2203	4299	6502	SO:0001583	missense	7225				axon guidance|platelet activation|positive regulation of calcium ion transport via store-operated calcium channel activity	integral to membrane|plasma membrane	protein binding	g.chr11:101347235C>A	AJ006276	CCDS8311.1	11q22.1	2014-02-04				ENSG00000137672		"Voltage-gated ion channels / Transient receptor potential cation channels"	12338	protein-coding gene	gene with protein product		603652	"focal segmental glomerulosclerosis 2"	FSGS2		9925922, 16382100, 15879175	Standard	NM_004621		Approved	TRP6	uc001pgk.4	Q9Y210		ENST00000344327.3:c.1541G>T	11.37:g.101347235C>A	ENSP00000340913:p.Trp514Leu					TRPC6_ENST00000360497.4_Missense_Mutation_p.W459L|TRPC6_ENST00000532133.1_Intron|TRPC6_ENST00000348423.4_Missense_Mutation_p.W398L	p.W514L	NM_004621.5	NP_004612.2	Q9Y210	TRPC6_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.0442)	6	1965	-		Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162)	514					Q52M59|Q9HCW3|Q9NQA8|Q9NQA9	Missense_Mutation	SNP	ENST00000344327.3	37	c.1541G>T	CCDS8311.1	.	.	.	.	.	.	.	.	.	.	C	32	5.159737	0.94727	.	.	ENSG00000137672	ENST00000344327;ENST00000348423;ENST00000360497	D;D;D	0.98280	-4.84;-4.84;-4.84	5.97	5.97	0.96955	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99171	0.9713	M	0.88105	2.93	0.80722	D	1	D;D;D	0.89917	1.0;0.967;1.0	D;P;D	0.91635	0.999;0.501;0.999	D	0.99457	1.0942	10	0.87932	D	0	-11.05	20.437	0.99096	0.0:1.0:0.0:0.0	.	459;398;514	Q9Y210-3;Q9Y210-2;Q9Y210	.;.;TRPC6_HUMAN	L	514;398;459	ENSP00000340913:W514L;ENSP00000343672:W398L;ENSP00000353687:W459L	ENSP00000340913:W514L	W	-	2	0	TRPC6	100852445	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.811000	0.86092	2.831000	0.97527	0.643000	0.83706	TGG		0.383	TRPC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394770.1	NM_004621		5	73	1	0	0.00116845	1	0.00120805	5	73					A	101347235	C	A	101347235	3	1	319	1	0	0	0	0	1	0	0	0	16580	595	21	5	1286	5	TRPC6	11	101347235	Missense_Mutation	SNP	C	TCGA-KK-A6E8-01A-11D-A31L-08	43176556	101347235	33659281	37	16377											
ALKBH2	121642	broad.mit.edu	37	chr12	109526259	109526259	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	agaggcaatggggctcccagGggccagttctctttcatcat	8	10	12	11	0	3	1	2	0	1	1	5	1	4	1	2	5	0	3	2	5	1	2	rs140769082		TCGA-KK-A6E8-01A-11D-A31L-08	TCGA-KK-A6E8-11A-11D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ea4c81-9106-43af-b2ce-2352d6fd4978	f79ad5e5-cf51-49cb-aafb-2c6ab3448ecc	g.chr12:109526259G>A	ENST00000429722.2	-	4	901	c.538C>T	c.(538-540)Cct>Tct	p.P180S	ALKBH2_ENST00000440112.2_Silent_p.P113P|ALKBH2_ENST00000343075.3_Missense_Mutation_p.P180S	NM_001145374.1	NP_001138846.1	Q6NS38	ALKB2_HUMAN	alkB, alkylation repair homolog 2 (E. coli)	180	Fe2OG dioxygenase. {ECO:0000255|PROSITE- ProRule:PRU00805}.				DNA dealkylation involved in DNA repair (GO:0006307)|DNA demethylation (GO:0080111)|DNA repair (GO:0006281)|oxidative demethylation (GO:0070989)|oxidative DNA demethylation (GO:0035511)	nucleoplasm (GO:0005654)	cytosine C-5 DNA demethylase activity (GO:0051747)|DNA-N1-methyladenine dioxygenase activity (GO:0043734)|ferrous iron binding (GO:0008198)			endometrium(1)|kidney(3)|large_intestine(1)|lung(3)	8					Vitamin C(DB00126)	GGGCTCCCAGGGGCCAGTTCT	0.537								Direct reversal of damage																														ENST00000429722.2																			0				endometrium(1)|kidney(3)|large_intestine(1)|lung(3)	8						c.(538-540)Cct>Tct	Direct reversal of damage	alkB, alkylation repair homolog 2 (E. coli)	Vitamin C(DB00126)	G	SER/PRO,SER/PRO,SER/PRO,,	1,4405	2.1+/-5.4	0,1,2202	81	91	88		538,538,538,339,339	4.9	0.1	12	dbSNP_134	88	0,8600		0,0,4300	no	missense,missense,missense,coding-synonymous,coding-synonymous	ALKBH2	NM_001001655.2,NM_001145374.1,NM_001145375.1,NM_001205179.1,NM_001205180.1	74,74,74,,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign,benign,benign,,	180/262,180/262,180/262,113/158,113/158	109526259	1,13005	2203	4300	6503	SO:0001583	missense	121642				DNA dealkylation involved in DNA repair|oxidative DNA demethylation	nucleoplasm	cytosine C-5 DNA demethylase activity|damaged DNA binding|DNA-N1-methyladenine dioxygenase activity|ferrous iron binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr12:109526259G>A	AY754389	CCDS31897.1, CCDS55883.1	12q24.11	2008-04-24			ENSG00000189046	ENSG00000189046		"Alkylation repair homologs"	32487	protein-coding gene	gene with protein product		610602					Standard	NM_001145374		Approved	MGC90512, ABH2	uc010sxj.1	Q6NS38	OTTHUMG00000169246	ENST00000429722.2:c.538C>T	12.37:g.109526259G>A	ENSP00000398181:p.Pro180Ser					ALKBH2_ENST00000343075.3_Missense_Mutation_p.P180S|ALKBH2_ENST00000440112.2_Silent_p.P113P	p.P180S	NM_001145374.1	NP_001138846.1	Q6NS38	ALKB2_HUMAN			4	901	-			180			Fe2OG dioxygenase.		A4PET2|Q5XLE3	Missense_Mutation	SNP	ENST00000429722.2	37	c.538C>T	CCDS31897.1	.	.	.	.	.	.	.	.	.	.	G	15.99	2.996278	0.54147	2.27E-4	0.0	ENSG00000189046	ENST00000429722;ENST00000343075;ENST00000435370	T;T	0.11385	2.78;2.78	5.8	4.89	0.63831	Oxoglutarate/iron-dependent oxygenase (2);	0.148613	0.64402	D	0.000008	T	0.11665	0.0284	.	.	.	0.80722	D	1	B	0.24368	0.102	B	0.28232	0.087	T	0.07481	-1.0770	9	0.31617	T	0.26	-15.6171	15.9016	0.79380	0.0:0.1354:0.8646:0.0	.	180	Q6NS38	ALKB2_HUMAN	S	180	ENSP00000398181:P180S;ENSP00000343021:P180S	ENSP00000343021:P180S	P	-	1	0	ALKBH2	108010642	1.000000	0.71417	0.106000	0.21319	0.967000	0.64934	7.122000	0.77169	1.410000	0.46936	0.655000	0.94253	CCT		0.537	ALKBH2-007	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403063.2	NM_001001655		44	70	0	0	0	1	0	44	70					A	109526259	G	A	109526259	3	1	319	1	0	0	0	0	1	0	0	0	527	1232	43	3	251	3	ALKBH2	12	109526259	Missense_Mutation	SNP	G	TCGA-KK-A6E8-01A-11D-A31L-08		109526259	24325636	38	16378											
COL4A1	1282	broad.mit.edu	37	chr13	110833688	110833688	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtaagccattaaatcccgggCgacctggagtccccggtggc	8	7	13	13	3	0	0	0	0	0	0	2	2	2	1	5	4	1	1	5	4	3	2	rs199573161		TCGA-KK-A6E8-01A-11D-A31L-08	TCGA-KK-A6E8-11A-11D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ea4c81-9106-43af-b2ce-2352d6fd4978	f79ad5e5-cf51-49cb-aafb-2c6ab3448ecc	g.chr13:110833688C>T	ENST00000375820.4	-	29	2265	c.2144G>A	c.(2143-2145)cGc>cAc	p.R715H		NM_001845.4	NP_001836.2	P02462	CO4A1_HUMAN	collagen, type IV, alpha 1	715	Triple-helical region.				axon guidance (GO:0007411)|basement membrane organization (GO:0071711)|blood vessel morphogenesis (GO:0048514)|brain development (GO:0007420)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|epithelial cell differentiation (GO:0030855)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|neuromuscular junction development (GO:0007528)|patterning of blood vessels (GO:0001569)|renal tubule morphogenesis (GO:0061333)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix constituent conferring elasticity (GO:0030023)|extracellular matrix structural constituent (GO:0005201)|platelet-derived growth factor binding (GO:0048407)			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			AAATCCCGGGCGACCTGGAGT	0.498																																						ENST00000375820.4																			0				breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						c.(2143-2145)cGc>cAc		collagen, type IV, alpha 1		C	HIS/ARG	0,4406		0,0,2203	51	50	50		2144	5.1	1	13		50	1,8599	1.2+/-3.3	0,1,4299	no	missense	COL4A1	NM_001845.4	29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging	715/1670	110833688	1,13005	2203	4300	6503	SO:0001583	missense	1282				angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding	g.chr13:110833688C>T	J04217	CCDS9511.1	13q34	2013-09-05			ENSG00000187498	ENSG00000187498		"Collagens"	2202	protein-coding gene	gene with protein product		120130				3691802	Standard	NM_001845		Approved		uc001vqw.4	P02462	OTTHUMG00000017342	ENST00000375820.4:c.2144G>A	13.37:g.110833688C>T	ENSP00000364979:p.Arg715His						p.R715H	NM_001845.4	NP_001836.2	P02462	CO4A1_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)		29	2265	-	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	715			Triple-helical region.		A7E2W4|B1AM70|Q1P9S9|Q5VWF6|Q86X41|Q8NF88|Q9NYC5	Missense_Mutation	SNP	ENST00000375820.4	37	c.2144G>A	CCDS9511.1	.	.	.	.	.	.	.	.	.	.	C	12.57	1.977242	0.34848	0.0	1.16E-4	ENSG00000187498	ENST00000375820	T	0.46819	0.86	5.1	5.1	0.69264	.	0.378976	0.27366	N	0.019684	T	0.44117	0.1278	L	0.58354	1.805	0.80722	D	1	P	0.42456	0.78	B	0.39339	0.297	T	0.42899	-0.9424	10	0.45353	T	0.12	.	11.7206	0.51680	0.0:0.8226:0.1774:0.0	.	715	P02462	CO4A1_HUMAN	H	715	ENSP00000364979:R715H	ENSP00000364979:R715H	R	-	2	0	COL4A1	109631689	0.997000	0.39634	0.996000	0.52242	0.171000	0.22731	2.114000	0.41911	2.652000	0.90054	0.655000	0.94253	CGC		0.498	COL4A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045759.3			18	15	0	0	0	1	0	18	15					T	110833688	C	T	110833688	3	4	319	1	0	0	0	0	1	0	0	0	3689	768	27	1	2961	1	COL4A1	13	110833688	Missense_Mutation	SNP	C	TCGA-KK-A6E8-01A-11D-A31L-08		110833688	4336190	39	16379											
DHRS4	10901	broad.mit.edu	37	chr14	24424420	24424420	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgggagcggctggtggccaCggtgagctgcagggaaatgg	7	5	20	9	3	0	1	0	1	0	0	0	3	0	3	2	7	3	3	2	7	1	0	rs537144117	byFrequency	TCGA-KK-A6E8-01A-11D-A31L-08	TCGA-KK-A6E8-11A-11D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ea4c81-9106-43af-b2ce-2352d6fd4978	f79ad5e5-cf51-49cb-aafb-2c6ab3448ecc	g.chr14:24424420C>T	ENST00000313250.5	+	2	508	c.305C>T	c.(304-306)aCg>aTg	p.T102M	DHRS4_ENST00000397073.2_Splice_Site_p.T84M|DHRS4_ENST00000397075.3_Splice_Site_p.T102M|DHRS4-AS1_ENST00000556379.1_RNA|DHRS4_ENST00000421831.1_Splice_Site_p.T84M|DHRS4_ENST00000543741.2_Splice_Site_p.T102M|DHRS4_ENST00000558581.1_Splice_Site_p.T102M|DHRS4_ENST00000559632.1_Splice_Site_p.T102M|DHRS4_ENST00000558263.1_Splice_Site_p.T102M|DHRS4_ENST00000397074.3_Splice_Site_p.T102M|DHRS4_ENST00000308178.8_Splice_Site_p.T84M|DHRS4_ENST00000382761.3_Splice_Site_p.T84M	NM_021004.2	NP_066284.2	Q9BTZ2	DHRS4_HUMAN	dehydrogenase/reductase (SDR family) member 4	102				T -> M (in Ref. 1; AAD02292). {ECO:0000305}.	alcohol metabolic process (GO:0006066)|cellular ketone metabolic process (GO:0042180)|oxidation-reduction process (GO:0055114)|protein tetramerization (GO:0051262)|steroid metabolic process (GO:0008202)	extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	3-keto sterol reductase activity (GO:0000253)|alcohol dehydrogenase [NAD(P)+] activity (GO:0018455)|carbonyl reductase (NADPH) activity (GO:0004090)|oxidoreductase activity, acting on NAD(P)H, quinone or similar compound as acceptor (GO:0016655)|receptor binding (GO:0005102)	p.T102M(4)		central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14				GBM - Glioblastoma multiforme(265;0.00962)	Vitamin A(DB00162)	CTGGTGGCCACGGTGAGCTGC	0.652													.|||	14	0.00279553	8e-04	0	5008	,	,		13962	0.003		0.004	False		,,,				2504	0.0061					ENST00000313250.5																			4	Substitution - Missense(4)	p.T102M(4)	central_nervous_system(2)|lung(1)|kidney(1)	central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14						c.e2+1		dehydrogenase/reductase (SDR family) member 4	Vitamin A(DB00162)																																			SO:0001630	splice_region_variant	10901					mitochondrion|nuclear membrane|peroxisome	binding|carbonyl reductase (NADPH) activity	g.chr14:24424420C>T	AF044127	CCDS9605.1, CCDS61408.1, CCDS61409.1, CCDS61410.1, CCDS61411.1, CCDS61412.1	14q11.2	2013-06-14			ENSG00000157326	ENSG00000157326	1.1.1.184	"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"	16985	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 25C, member 2"	611596				10333503, 19027726	Standard	NM_021004		Approved	SCAD-SRL, SDR-SRL, humNRDR, FLJ11008, SDR25C2	uc001wla.3	Q9BTZ2	OTTHUMG00000028777	ENST00000313250.5:c.306+1C>T	14.37:g.24424420C>T						DHRS4_ENST00000397075.3_Splice_Site_p.T102_splice|DHRS4_ENST00000308178.8_Splice_Site_p.T84_splice|DHRS4_ENST00000382761.3_Splice_Site_p.T84_splice|DHRS4_ENST00000421831.1_Splice_Site_p.T84_splice|DHRS4_ENST00000559632.1_Splice_Site_p.T102_splice|DHRS4_ENST00000558263.1_Splice_Site_p.T102_splice|DHRS4_ENST00000397073.2_Splice_Site_p.T84_splice|DHRS4_ENST00000397074.3_Splice_Site_p.T102_splice|DHRS4_ENST00000558581.1_Splice_Site_p.T102_splice|DHRS4_ENST00000543741.2_Splice_Site_p.T102_splice	p.T102_splice	NM_021004.2	NP_066284.2	Q9BTZ2	DHRS4_HUMAN		GBM - Glioblastoma multiforme(265;0.00962)	2	508	+			102	T -> M (in Ref. 1; AAD02292).				B2RB10|B7WNS9|D3YTB8|E2QRL8|O95162|Q20CR0|Q2LC19|Q2LE81|Q58IU4|Q6E0Y1|Q6UWU3|Q71UQ6|Q8TD03|Q9H3N5|Q9NV08	Splice_Site	SNP	ENST00000313250.5	37	c.306_splice	CCDS9605.1	.	.	.	.	.	.	.	.	.	.	.	8.197	0.797295	0.16327	.	.	ENSG00000157326	ENST00000313250;ENST00000421831;ENST00000397073;ENST00000308178;ENST00000382761;ENST00000397075;ENST00000397074;ENST00000543741	T;T;D;D;D;D;D;D	0.88201	0.93;0.93;-2.35;-2.35;-2.35;-2.35;-2.35;-2.35	3.78	0.837	0.18896	NAD(P)-binding domain (1);	0.264094	0.42294	N	0.000732	D	0.83839	0.5341	M	0.77712	2.385	0.36055	D	0.841007	P;B;B;B;B;B	0.45011	0.848;0.001;0.002;0.065;0.05;0.035	B;B;B;B;B;B	0.34180	0.177;0.002;0.001;0.016;0.064;0.044	T	0.80294	-0.1443	10	0.37606	T	0.19	.	7.6245	0.28204	0.0:0.6987:0.0:0.3013	.	102;102;102;102;102;102	Q9BTZ2-5;F5GWZ1;Q9BTZ2-2;Q9BTZ2-7;Q9BTZ2-4;Q9BTZ2	.;.;.;.;.;DHRS4_HUMAN	M	102;84;84;84;84;102;102;102	ENSP00000326219:T102M;ENSP00000404147:T84M;ENSP00000380263:T84M;ENSP00000311993:T84M;ENSP00000372209:T84M;ENSP00000380265:T102M;ENSP00000380264:T102M;ENSP00000440508:T102M	ENSP00000311993:T84M	T	+	2	0	DHRS4	23494260	0.410000	0.25376	0.968000	0.41197	0.539000	0.34962	-0.130000	0.10498	-0.015000	0.14150	0.479000	0.44913	ACG		0.652	DHRS4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071857.3		Missense_Mutation	4	27	0	0	0	1	0	4	27					T	24424420	C	T	24424420	5	4	319	1	0	0	0	0	0	0	1	0	4492	550	19	1	311	1	DHRS4	14	24424420	Splice_Site	SNP	C	TCGA-KK-A6E8-01A-11D-A31L-08		24424420	82925120	40	16380											
UNC13C	440279	broad.mit.edu	37	chr15	54860001	54860001	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tttttttttctttgtagcaaTactttcatgcaggaggaaat	10	19	7	5	0	2	0	1	0	1	0	2	2	2	2	0	2	3	3	0	2	4	8			TCGA-KK-A6E8-01A-11D-A31L-08	TCGA-KK-A6E8-11A-11D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ea4c81-9106-43af-b2ce-2352d6fd4978	f79ad5e5-cf51-49cb-aafb-2c6ab3448ecc	g.chr15:54860001T>C	ENST00000260323.11	+	29	5962	c.5962T>C	c.(5962-5964)Tac>Cac	p.Y1988H	UNC13C_ENST00000537900.1_Missense_Mutation_p.Y1986H|UNC13C_ENST00000545554.1_Missense_Mutation_p.Y1988H	NM_001080534.1	NP_001074003.1	Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	1988	MHD2. {ECO:0000255|PROSITE- ProRule:PRU00588}.				exocytosis (GO:0006887)|intracellular signal transduction (GO:0035556)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		TTTGTAGCAATACTTTCATGC	0.353																																						ENST00000545554.1																			0				breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121						c.(5962-5964)Tac>Cac		unc-13 homolog C (C. elegans)							40	38	38					15																	54860001		1795	4061	5856	SO:0001583	missense	440279				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding	g.chr15:54860001T>C	AK091491	CCDS45264.1	15q21.3	2012-10-02			ENSG00000137766	ENSG00000137766			23149	protein-coding gene	gene with protein product		614568					Standard	NM_001080534		Approved	Munc13-3, DKFZp547H074	uc021smr.1	Q8NB66	OTTHUMG00000172542	ENST00000260323.11:c.5962T>C	15.37:g.54860001T>C	ENSP00000260323:p.Tyr1988His					UNC13C_ENST00000537900.1_Missense_Mutation_p.Y1986H|UNC13C_ENST00000260323.11_Missense_Mutation_p.Y1988H	p.Y1988H			Q8NB66	UN13C_HUMAN		GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)	29	5962	+			1988			MHD2.		Q0P613|Q8ND48|Q96NP3	Missense_Mutation	SNP	ENST00000260323.11	37	c.5962T>C	CCDS45264.1	.	.	.	.	.	.	.	.	.	.	T	20.0	3.931102	0.73327	.	.	ENSG00000137766	ENST00000260323;ENST00000545554;ENST00000537900	T;T;T	0.77229	-1.08;-1.08;-1.08	5.91	5.91	0.95273	Mammalian uncoordinated homology 13, domain 2 (1);Mammalian uncoordinated homology 13, subgroup, domain 2 (1);	0.130780	0.53938	D	0.000057	D	0.89473	0.6725	M	0.86953	2.85	0.58432	D	0.999997	D	0.89917	1.0	D	0.91635	0.999	D	0.90952	0.4806	10	0.66056	D	0.02	.	15.5243	0.75890	0.0:0.0:0.0:1.0	.	1988	Q8NB66	UN13C_HUMAN	H	1988;1988;1986	ENSP00000260323:Y1988H;ENSP00000438156:Y1988H;ENSP00000442569:Y1986H	ENSP00000260323:Y1988H	Y	+	1	0	UNC13C	52647293	1.000000	0.71417	1.000000	0.80357	0.622000	0.37654	7.985000	0.88162	2.263000	0.75096	0.377000	0.23210	TAC		0.353	UNC13C-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000419028.3	NM_173166		5	9	0	0	0	1	0	5	9					C	54860001	T	C	54860001	3	2	319	1	0	0	0	0	1	0	0	0	16983	1406	49	4	6072	4	UNC13C	15	54860001	Missense_Mutation	SNP	T	TCGA-KK-A6E8-01A-11D-A31L-08		54860001	47671391	41	16381											
HMOX2	3163	broad.mit.edu	37	chr16	4559437	4559437	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcaatgaactggaccaggccGgctccacactggccagagag	11	5	12	13	1	1	2	1	1	0	1	2	4	2	3	4	4	1	1	4	4	2	0			TCGA-KK-A6E8-01A-11D-A31L-08	TCGA-KK-A6E8-11A-11D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ea4c81-9106-43af-b2ce-2352d6fd4978	f79ad5e5-cf51-49cb-aafb-2c6ab3448ecc	g.chr16:4559437G>A	ENST00000570646.1	+	5	1326	c.721G>A	c.(721-723)Ggc>Agc	p.G241S	HMOX2_ENST00000414777.1_Missense_Mutation_p.G241S|HMOX2_ENST00000398595.3_Missense_Mutation_p.G241S|HMOX2_ENST00000458134.3_Missense_Mutation_p.G241S|HMOX2_ENST00000219700.6_Missense_Mutation_p.G241S|HMOX2_ENST00000406590.2_Missense_Mutation_p.G241S|HMOX2_ENST00000575120.1_Missense_Mutation_p.G212S	NM_002134.3	NP_002125.3	P30519	HMOX2_HUMAN	heme oxygenase (decycling) 2	241					cellular iron ion homeostasis (GO:0006879)|heme catabolic process (GO:0042167)|heme oxidation (GO:0006788)|porphyrin-containing compound metabolic process (GO:0006778)|response to hypoxia (GO:0001666)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	endoplasmic reticulum membrane (GO:0005789)|membrane (GO:0016020)|plasma membrane (GO:0005886)	heme oxygenase (decyclizing) activity (GO:0004392)|metal ion binding (GO:0046872)			endometrium(1)|large_intestine(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	8						GGACCAGGCCGGCTCCACACT	0.478																																						ENST00000570646.1																			0				endometrium(1)|large_intestine(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	8						c.(721-723)Ggc>Agc		heme oxygenase (decycling) 2	NADH(DB00157)						153	156	155					16																	4559437		2197	4300	6497	SO:0001583	missense	3163				cellular iron ion homeostasis|heme catabolic process|heme oxidation|response to hypoxia|transmembrane transport	endoplasmic reticulum membrane|microsome|plasma membrane	electron carrier activity|heme oxygenase (decyclizing) activity|metal ion binding|protein binding	g.chr16:4559437G>A		CCDS10517.1, CCDS66931.1, CCDS73818.1	16p13.3	2008-02-05			ENSG00000103415	ENSG00000103415	1.14.99.3		5014	protein-coding gene	gene with protein product		141251				1575508	Standard	NM_002134		Approved	HO-2	uc002cwq.4	P30519	OTTHUMG00000129473	ENST00000570646.1:c.721G>A	16.37:g.4559437G>A	ENSP00000459214:p.Gly241Ser					HMOX2_ENST00000398595.3_Missense_Mutation_p.G241S|HMOX2_ENST00000458134.3_Missense_Mutation_p.G241S|HMOX2_ENST00000414777.1_Missense_Mutation_p.G241S|HMOX2_ENST00000575120.1_Missense_Mutation_p.G212S|HMOX2_ENST00000219700.6_Missense_Mutation_p.G241S|HMOX2_ENST00000406590.2_Missense_Mutation_p.G241S	p.G241S	NM_002134.3	NP_002125.3	P30519	HMOX2_HUMAN			5	1326	+			241					A8MT35|D3DUD5|I3L430|O60605	Missense_Mutation	SNP	ENST00000570646.1	37	c.721G>A	CCDS10517.1	.	.	.	.	.	.	.	.	.	.	G	18.85	3.712335	0.68730	.	.	ENSG00000103415	ENST00000406590;ENST00000458134;ENST00000219700;ENST00000414777;ENST00000398595	T;T;T;T;T	0.21932	1.98;1.98;1.98;1.98;1.98	5.31	3.31	0.37934	Haem oxygenase-like, multi-helical (2);	0.042743	0.85682	D	0.000000	T	0.22360	0.0539	M	0.71581	2.175	0.80722	D	1	D;D	0.54601	0.967;0.967	B;B	0.41440	0.357;0.357	T	0.17868	-1.0355	10	0.08599	T	0.76	-1.4608	14.6849	0.69042	0.0:0.276:0.724:0.0	.	241;241	B3KSE0;P30519	.;HMOX2_HUMAN	S	241	ENSP00000385100:G241S;ENSP00000394103:G241S;ENSP00000219700:G241S;ENSP00000391637:G241S;ENSP00000381595:G241S	ENSP00000219700:G241S	G	+	1	0	HMOX2	4499438	1.000000	0.71417	0.999000	0.59377	0.368000	0.29767	5.356000	0.66052	0.784000	0.33661	-0.264000	0.10439	GGC		0.478	HMOX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251636.2			15	233	0	0	0	1	0	15	233					A	4559437	G	A	4559437	3	1	319	1	0	0	0	0	1	0	0	0	7244	1116	39	2	735	2	HMOX2	16	4559437	Missense_Mutation	SNP	G	TCGA-KK-A6E8-01A-11D-A31L-08		4559437	85795316	42	16382											
CDH1	999	broad.mit.edu	37	chr16	68855984	68855984	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	acgcccccataccagaacctCgaactatattcttctgtgag	11	10	6	14	2	2	2	0	1	2	1	3	3	2	2	4	0	3	0	4	0	5	5	rs121964877		TCGA-KK-A6E8-01A-11D-A31L-08	TCGA-KK-A6E8-11A-11D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ea4c81-9106-43af-b2ce-2352d6fd4978	f79ad5e5-cf51-49cb-aafb-2c6ab3448ecc	g.chr16:68855984C>G	ENST00000261769.5	+	12	1983	c.1792C>G	c.(1792-1794)Cga>Gga	p.R598G	RP11-354M1.2_ENST00000563916.1_RNA|CDH1_ENST00000562836.1_3'UTR|CDH1_ENST00000422392.2_Missense_Mutation_p.R537G	NM_004360.3	NP_004351.1	P12830	CADH1_HUMAN	cadherin 1, type 1, E-cadherin (epithelial)	598	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.		R -> Q (in a gastric cancer sample).		adherens junction organization (GO:0034332)|apoptotic process (GO:0006915)|calcium-dependent cell-cell adhesion (GO:0016339)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to amino acid stimulus (GO:0071230)|cellular response to indole-3-methanol (GO:0071681)|cellular response to lithium ion (GO:0071285)|cochlea development (GO:0090102)|epithelial cell morphogenesis (GO:0003382)|establishment of protein localization to plasma membrane (GO:0090002)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|homophilic cell adhesion (GO:0007156)|intestinal epithelial cell development (GO:0060576)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of epithelial cell proliferation (GO:0050680)|neuron projection development (GO:0031175)|pituitary gland development (GO:0021983)|positive regulation of transcription factor import into nucleus (GO:0042993)|positive regulation of transcription, DNA-templated (GO:0045893)|protein homooligomerization (GO:0051260)|protein localization to plasma membrane (GO:0072659)|protein metabolic process (GO:0019538)|regulation of branching involved in salivary gland morphogenesis (GO:0060693)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of immune response (GO:0050776)|regulation of neuron migration (GO:2001222)|regulation of protein localization to cell surface (GO:2000008)|regulation of water loss via skin (GO:0033561)|response to drug (GO:0042493)|response to toxic substance (GO:0009636)|salivary gland cavitation (GO:0060662)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|synapse assembly (GO:0007416)|tight junction assembly (GO:0070830)|trophectodermal cell differentiation (GO:0001829)	actin cytoskeleton (GO:0015629)|aggresome (GO:0016235)|apical junction complex (GO:0043296)|apical part of cell (GO:0045177)|axon terminus (GO:0043679)|basolateral plasma membrane (GO:0016323)|catenin complex (GO:0016342)|cell junction (GO:0030054)|cell surface (GO:0009986)|cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|endosome (GO:0005768)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|lateral loop (GO:0043219)|lateral plasma membrane (GO:0016328)|node of Ranvier (GO:0033268)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|Schmidt-Lanterman incisure (GO:0043220)|trans-Golgi network (GO:0005802)	ankyrin binding (GO:0030506)|beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)|cell adhesion molecule binding (GO:0050839)|gamma-catenin binding (GO:0045295)|glycoprotein binding (GO:0001948)|GTPase activating protein binding (GO:0032794)			NS(6)|biliary_tract(8)|breast(161)|central_nervous_system(4)|endometrium(9)|kidney(4)|large_intestine(13)|lung(13)|oesophagus(3)|ovary(2)|prostate(3)|soft_tissue(2)|stomach(76)|thyroid(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	311		all_neural(199;0.0189)|Ovarian(137;0.0563)		Epithelial(162;8.44e-05)|all cancers(182;0.000404)|OV - Ovarian serous cystadenocarcinoma(108;0.000426)|BRCA - Breast invasive adenocarcinoma(181;0.0261)		ACCAGAACCTCGAACTATATT	0.453			"Mis, N, F, S"		"lobular breast, gastric"	gastric			Hereditary Diffuse Gastric Cancer																													ENST00000261769.5			yes	Rec	yes	Familial gastric carcinoma	16	16q22.1	999	"Mis, N, F, S"	"cadherin 1, type 1, E-cadherin (epithelial) (ECAD)"			E		gastric	"lobular breast, gastric"		0				NS(6)|biliary_tract(8)|breast(161)|central_nervous_system(4)|endometrium(9)|kidney(4)|large_intestine(13)|lung(13)|oesophagus(3)|ovary(2)|prostate(3)|soft_tissue(2)|stomach(76)|thyroid(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	311	GRCh37	CM980318	CDH1	M	rs121964877	c.(1792-1794)Cga>Gga		cadherin 1, type 1, E-cadherin (epithelial)							124	112	116					16																	68855984		2198	4300	6498	SO:0001583	missense	999	Hereditary Diffuse Gastric Cancer	Familial Cancer Database	HDGC	adherens junction organization|cellular component disassembly involved in apoptosis|cellular response to indole-3-methanol|cellular response to lithium ion|homophilic cell adhesion|negative regulation of cell-cell adhesion|positive regulation of transcription factor import into nucleus|positive regulation of transcription, DNA-dependent|regulation of immune response	actin cytoskeleton|aggresome|apical junction complex|catenin complex|cell-cell adherens junction|endosome|focal adhesion|Golgi apparatus|integral to membrane|internal side of plasma membrane|lateral plasma membrane|perinuclear region of cytoplasm	cell adhesion molecule binding|gamma-catenin binding	g.chr16:68855984C>G	L08599	CCDS10869.1	16q22.1	2014-09-17			ENSG00000039068	ENSG00000039068		"CD molecules", "Cadherins / Major cadherins"	1748	protein-coding gene	gene with protein product	"E-Cadherin"	192090		UVO		9925936	Standard	NM_004360		Approved	uvomorulin, CD324	uc002ewg.1	P12830	OTTHUMG00000137561	ENST00000261769.5:c.1792C>G	16.37:g.68855984C>G	ENSP00000261769:p.Arg598Gly					CDH1_ENST00000562836.1_3'UTR|CDH1_ENST00000422392.2_Missense_Mutation_p.R537G|RP11-354M1.2_ENST00000563916.1_RNA	p.R598G	NM_004360.3	NP_004351.1	P12830	CADH1_HUMAN		Epithelial(162;8.44e-05)|all cancers(182;0.000404)|OV - Ovarian serous cystadenocarcinoma(108;0.000426)|BRCA - Breast invasive adenocarcinoma(181;0.0261)	12	1983	+		all_neural(199;0.0189)|Ovarian(137;0.0563)	598		R -> Q (in a gastric cancer sample).	Cadherin 5.		A8K1U7|Q13799|Q14216|Q15855|Q16194|Q4PJ14|Q9UII8	Missense_Mutation	SNP	ENST00000261769.5	37	c.1792C>G	CCDS10869.1	.	.	.	.	.	.	.	.	.	.	C	15.75	2.924348	0.52653	.	.	ENSG00000039068	ENST00000261769;ENST00000379120;ENST00000268794;ENST00000422392	T;T	0.60920	0.15;0.15	5.34	5.34	0.76211	Cadherin (1);Cadherin-like (2);	0.368613	0.19844	N	0.104789	T	0.74023	0.3662	M	0.70595	2.14	0.54753	D	0.999986	D;P	0.61697	0.99;0.688	D;P	0.64321	0.924;0.469	T	0.71467	-0.4584	10	0.33940	T	0.23	.	18.6991	0.91614	0.0:1.0:0.0:0.0	.	537;598	Q9UII8;P12830	.;CADH1_HUMAN	G	598;616;598;537	ENSP00000261769:R598G;ENSP00000414946:R537G	ENSP00000261769:R598G	R	+	1	2	CDH1	67413485	1.000000	0.71417	0.798000	0.32154	0.055000	0.15305	5.243000	0.65395	2.523000	0.85059	0.536000	0.68110	CGA		0.453	CDH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268897.2	NM_004360		4	83	0	0	0	1	0	4	83					G	68855984	C	G	68855984	3	3	319	1	0	0	0	0	1	0	0	0	3095	876	31	5	1838	5	CDH1	16	68855984	Missense_Mutation	SNP	C	TCGA-KK-A6E8-01A-11D-A31L-08	64296547	68855984	21498769	43	16383											
LSMD1	84316	broad.mit.edu	37	chr17	7760438	7760438	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tccatctgtcatgcgaatgcGcatagtcttgttgagcagcg	8	12	11	10	3	3	1	1	1	2	0	4	2	4	1	1	0	4	3	1	0	2	3			TCGA-KK-A6E8-01A-11D-A31L-08	TCGA-KK-A6E8-11A-11D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ea4c81-9106-43af-b2ce-2352d6fd4978	f79ad5e5-cf51-49cb-aafb-2c6ab3448ecc	g.chr17:7760438G>A	ENST00000335155.5	-	2	159	c.160C>T	c.(160-162)Cgc>Tgc	p.R54C	LSMD1_ENST00000333775.5_Missense_Mutation_p.R102C|CYB5D1_ENST00000570446.1_5'Flank|LSMD1_ENST00000575208.1_Missense_Mutation_p.R2C|CYB5D1_ENST00000332439.4_5'Flank|LSMD1_ENST00000575771.1_Missense_Mutation_p.R2C|LSMD1_ENST00000575071.1_Missense_Mutation_p.R2C|LSMD1_ENST00000570555.1_5'Flank|LSMD1_ENST00000576384.1_Missense_Mutation_p.R2C|CYB5D1_ENST00000571846.1_5'Flank|LSMD1_ENST00000576861.1_Missense_Mutation_p.R28C			Q9BRA0	LSMD1_HUMAN		54					negative regulation of apoptotic process (GO:0043066)	cytoplasm (GO:0005737)|NatC complex (GO:0031417)|nucleus (GO:0005634)				endometrium(1)|lung(2)|ovary(1)	4		all_cancers(10;0.11)|Prostate(122;0.219)				ATGCGAATGCGCATAGTCTTG	0.632											OREG0024146	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									GBM(66;626 1401 29924 42527)	ENST00000333775.5																			0				endometrium(1)|lung(2)|ovary(1)	4						c.(304-306)Cgc>Tgc		LSM domain containing 1							116	114	115					17																	7760438		2203	4300	6503	SO:0001583	missense	84316					cytoplasm|nucleus		g.chr17:7760438G>A																												ENST00000335155.5:c.160C>T	17.37:g.7760438G>A	ENSP00000335611:p.Arg54Cys		OREG0024146	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	644	LSMD1_ENST00000576384.1_Missense_Mutation_p.R2C|LSMD1_ENST00000575208.1_Missense_Mutation_p.R2C|LSMD1_ENST00000575071.1_Missense_Mutation_p.R2C|LSMD1_ENST00000335155.5_Missense_Mutation_p.R54C|LSMD1_ENST00000576861.1_Missense_Mutation_p.R28C|LSMD1_ENST00000575771.1_Missense_Mutation_p.R2C	p.R102C	NM_032356.3	NP_115732.2	Q9BRA0	LSMD1_HUMAN			1	734	-		all_cancers(10;0.11)|Prostate(122;0.219)	54					Q8N4M0	Missense_Mutation	SNP	ENST00000335155.5	37	c.304C>T		.	.	.	.	.	.	.	.	.	.	G	24.8	4.573919	0.86542	.	.	ENSG00000183011	ENST00000333775;ENST00000335155	T;T	0.45276	0.9;0.9	5.39	5.39	0.77823	Like-Sm ribonucleoprotein (LSM) domain, eukaryotic/archaea-type (1);Like-Sm ribonucleoprotein (LSM) domain (1);Like-Sm ribonucleoprotein (LSM)-related domain (1);	0.102633	0.64402	D	0.000008	T	0.66877	0.2834	M	0.84948	2.725	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79784	0.993;0.991	T	0.71790	-0.4486	10	0.72032	D	0.01	.	12.9573	0.58434	0.0:0.0:0.8379:0.1621	.	102;54	Q9BRA0-2;Q9BRA0	.;LSMD1_HUMAN	C	102;54	ENSP00000332103:R102C;ENSP00000335611:R54C	ENSP00000332103:R102C	R	-	1	0	LSMD1	7701163	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	4.332000	0.59279	2.540000	0.85666	0.448000	0.29417	CGC		0.632	LSMD1-201	KNOWN	basic|appris_principal	protein_coding	protein_coding				6	204	0	0	0	1	0	6	204					A	7760438	G	A	7760438	3	1	319	1	0	0	0	0	1	0	0	0	9062	1087	38	1	225	1	LSMD1	17	7760438	Missense_Mutation	SNP	G	TCGA-KK-A6E8-01A-11D-A31L-08		7760438	73434772	44	16384											
ACACA	31	broad.mit.edu	37	chr17	35627723	35627723	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctccctctgaggccttgatCattactggatatccaacttc	8	13	6	14	0	2	2	1	2	1	0	5	3	4	3	4	2	2	0	4	2	3	4			TCGA-KK-A6E8-01A-11D-A31L-08	TCGA-KK-A6E8-11A-11D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ea4c81-9106-43af-b2ce-2352d6fd4978	f79ad5e5-cf51-49cb-aafb-2c6ab3448ecc	g.chr17:35627723C>A	ENST00000394406.2	-	10	1117	c.927G>T	c.(925-927)atG>atT	p.M309I	ACACA_ENST00000353139.5_Missense_Mutation_p.M346I|ACACA_ENST00000335166.5_Missense_Mutation_p.M231I|ACACA_ENST00000360679.3_Missense_Mutation_p.M251I	NM_198836.1	NP_942133.1	Q13085	ACACA_HUMAN	acetyl-CoA carboxylase alpha	309	ATP-grasp. {ECO:0000255|PROSITE- ProRule:PRU00409}.|Biotin carboxylation.				acetyl-CoA metabolic process (GO:0006084)|biotin metabolic process (GO:0006768)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|lipid homeostasis (GO:0055088)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|malonyl-CoA biosynthetic process (GO:2001295)|multicellular organismal protein metabolic process (GO:0044268)|positive regulation of cellular metabolic process (GO:0031325)|protein homotetramerization (GO:0051289)|small molecule metabolic process (GO:0044281)|tissue homeostasis (GO:0001894)|triglyceride biosynthetic process (GO:0019432)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	acetyl-CoA carboxylase activity (GO:0003989)|ATP binding (GO:0005524)|biotin carboxylase activity (GO:0004075)|metal ion binding (GO:0046872)			NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	AGGCCTTGATCATTACTGGAT	0.393																																					Colon(23;82 258 739 2117 10493 24037 27661 34815 35438 36249)	ENST00000353139.5																			0				NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83						c.(1036-1038)atG>atT		acetyl-CoA carboxylase alpha	Biotin(DB00121)						222	213	216					17																	35627723		2203	4300	6503	SO:0001583	missense	31				acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding	g.chr17:35627723C>A	U19822	CCDS11317.1, CCDS11318.1, CCDS42302.1, CCDS42303.1	17q21	2014-05-06	2010-04-30		ENSG00000132142	ENSG00000278540	6.4.1.2		84	protein-coding gene	gene with protein product	"acetyl-CoA carboxylase 1"	200350	"acetyl-Coenzyme A carboxylase alpha"	ACAC, ACC			Standard	NM_198837		Approved	ACC1	uc002hno.3	Q13085	OTTHUMG00000188463	ENST00000394406.2:c.927G>T	17.37:g.35627723C>A	ENSP00000377928:p.Met309Ile					ACACA_ENST00000394406.2_Missense_Mutation_p.M309I|ACACA_ENST00000360679.3_Missense_Mutation_p.M251I|ACACA_ENST00000335166.5_Missense_Mutation_p.M231I	p.M346I	NM_198834.1|NM_198839.1	NP_942131.1|NP_942136.1	Q13085	ACACA_HUMAN			10	1519	-		Breast(25;0.00157)|Ovarian(249;0.15)	309			ATP-grasp.|Biotin carboxylation.		B2RP68|Q6KEV6|Q6XDA8|Q7Z2G8|Q7Z561|Q7Z563|Q7Z564|Q86WB2|Q86WB3	Missense_Mutation	SNP	ENST00000394406.2	37	c.1038G>T	CCDS11317.1	.	.	.	.	.	.	.	.	.	.	C	34	5.318973	0.95682	.	.	ENSG00000132142	ENST00000353139;ENST00000360679;ENST00000394406;ENST00000452074;ENST00000335166;ENST00000456066	D;D;D;D	0.95885	-3.84;-3.84;-3.84;-3.84	5.56	5.56	0.83823	ATP-grasp fold (1);ATP-grasp fold, subdomain 1 (1);Carbamoyl-phosphate synthetase, large subunit, ATP-binding (2);Biotin carboxylation domain (1);	0.000000	0.85682	D	0.000000	D	0.97081	0.9046	L	0.55481	1.735	0.80722	D	1	P;D;D	0.76494	0.694;0.999;0.999	B;D;D	0.79784	0.328;0.993;0.973	D	0.97256	0.9901	10	0.59425	D	0.04	-20.9179	19.517	0.95169	0.0:1.0:0.0:0.0	.	346;309;251	Q13085-4;Q13085;Q13085-2	.;ACACA_HUMAN;.	I	346;251;309;333;231;231	ENSP00000344789:M346I;ENSP00000353898:M251I;ENSP00000377928:M309I;ENSP00000335323:M231I	ENSP00000335323:M231I	M	-	3	0	ACACA	32701836	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.079000	0.71291	2.618000	0.88619	0.585000	0.79938	ATG		0.393	ACACA-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256696.1	NM_198836		4	150	1	0	1	1	1	4	150					A	35627723	C	A	35627723	3	1	319	1	0	0	0	0	1	0	0	0	106	826	29	5	6301	5	ACACA	17	35627723	Missense_Mutation	SNP	C	TCGA-KK-A6E8-01A-11D-A31L-08	27867285	35627723	45567487	45	16385											
ARHGDIA	396	broad.mit.edu	37	chr17	79826902	79826904	+	In_Frame_Del	DEL	CTC	CTC	-																															acgggggtcaggaactcgtaCtcctcggcccggggcccata																								rs150457411		TCGA-KK-A6E8-01A-11D-A31L-08	TCGA-KK-A6E8-11A-11D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ea4c81-9106-43af-b2ce-2352d6fd4978	f79ad5e5-cf51-49cb-aafb-2c6ab3448ecc	g.chr17:79826902_79826904delCTC	ENST00000269321.7	-	6	598_600	c.463_465delGAG	c.(463-465)gagdel	p.E155del	ARHGDIA_ENST00000580685.1_In_Frame_Del_p.E155del|ARHGDIA_ENST00000581876.1_In_Frame_Del_p.E80del|ARHGDIA_ENST00000584461.1_In_Frame_Del_p.E155del|ARHGDIA_ENST00000541078.2_In_Frame_Del_p.E155del|ARHGDIA_ENST00000582520.1_5'Flank|ARHGDIA_ENST00000400721.4_Intron|RP11-498C9.3_ENST00000576021.1_RNA|RP11-498C9.3_ENST00000576554.1_RNA	NM_001185078.1|NM_004309.4	NP_001172007.1|NP_004300.1	P52565	GDIR1_HUMAN	Rho GDP dissociation inhibitor (GDI) alpha	155					cellular component movement (GO:0006928)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell adhesion (GO:0007162)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of axonogenesis (GO:0050772)|regulation of axonogenesis (GO:0050770)|regulation of protein localization (GO:0032880)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|semaphorin-plexin signaling pathway (GO:0071526)|small GTPase mediated signal transduction (GO:0007264)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)	GTPase activator activity (GO:0005096)|Rho GDP-dissociation inhibitor activity (GO:0005094)			endometrium(1)|lung(1)|prostate(1)	3	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.013)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)			GGAACTCGTACTCCTCGGCCCGG	0.65																																						ENST00000269321.7																			0				endometrium(1)|lung(1)|prostate(1)	3						c.(463-465)del		Rho GDP dissociation inhibitor (GDI) alpha																																				SO:0001651	inframe_deletion	396				anti-apoptosis|cellular component movement|negative regulation of axonogenesis|negative regulation of cell adhesion|nerve growth factor receptor signaling pathway|positive regulation of axonogenesis|regulation of small GTPase mediated signal transduction|Rho protein signal transduction	cytoskeleton|cytosol	GTPase activator activity|identical protein binding|Rho GDP-dissociation inhibitor activity	g.chr17:79826902_79826904delCTC	BC028333	CCDS11788.1, CCDS58609.1	17q25.3	2005-12-20				ENSG00000141522			678	protein-coding gene	gene with protein product		601925		GDIA1		9186513	Standard	NM_001185077		Approved	RHOGDI	uc002kbq.3	P52565		ENST00000269321.7:c.463_465delGAG	17.37:g.79826905_79826907delCTC	ENSP00000269321:p.Glu155del					ARHGDIA_ENST00000400721.4_Intron|ARHGDIA_ENST00000584461.1_In_Frame_Del_p.E155del|ARHGDIA_ENST00000541078.2_In_Frame_Del_p.E155del|ARHGDIA_ENST00000581876.1_In_Frame_Del_p.E80del|ARHGDIA_ENST00000580685.1_In_Frame_Del_p.E155del	p.E155del	NM_001185078.1|NM_004309.4	NP_001172007.1|NP_004300.1	P52565	GDIR1_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.013)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)		6	598_600	-	all_neural(118;0.0878)|Ovarian(332;0.12)		155					A8MXW0|B2R5X1|B4DDD3|B4DUV9|Q6IBM5	In_Frame_Del	DEL	ENST00000269321.7	37	c.463_465delGAG	CCDS11788.1																																																																																				0.65	ARHGDIA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441679.2	NM_004309		9	49						9	49	---	---	---	---	-	79826904	CTC	-	79826902	7	5	319	1	0	1	0	1	0	0	0	0	890	564	20	0	153	0	ARHGDIA	17	79826902	In_Frame_Del	DEL	CTC	TCGA-KK-A6E8-01A-11D-A31L-08	44199179	79826902	1368308	46	16386											
LAMA3	3909	broad.mit.edu	37	chr18	21364040	21364040	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaatatgtgatgcccacggaCggtgcctgtgccgccctggg	7	8	14	12	3	0	1	0	1	0	0	0	2	0	2	4	3	3	0	4	3	2	1	rs369896333		TCGA-KK-A6E8-01A-11D-A31L-08	TCGA-KK-A6E8-11A-11D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ea4c81-9106-43af-b2ce-2352d6fd4978	f79ad5e5-cf51-49cb-aafb-2c6ab3448ecc	g.chr18:21364040C>T	ENST00000313654.9	+	12	1763	c.1522C>T	c.(1522-1524)Cgg>Tgg	p.R508W	LAMA3_ENST00000399516.3_Missense_Mutation_p.R508W	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	508	Domain V.|Laminin EGF-like 4. {ECO:0000255|PROSITE- ProRule:PRU00460}.				cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-5 complex (GO:0005610)	structural molecule activity (GO:0005198)			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)					TGCCCACGGACGGTGCCTGTG	0.532													C|||	1	0.000199681	0	0	5008	,	,		16615	0		0.001	False		,,,				2504	0					ENST00000313654.9																			0				NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128						c.(1522-1524)Cgg>Tgg		laminin, alpha 3	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	C	TRP/ARG,TRP/ARG	0,3902		0,0,1951	176	181	179		1522,1522	1.9	0.9	18		179	1,8257		0,1,4128	no	missense,missense	LAMA3	NM_001127717.1,NM_198129.1	101,101	0,1,6079	TT,TC,CC		0.0121,0.0,0.0082	probably-damaging,probably-damaging	508/3278,508/3334	21364040	1,12159	1951	4129	6080	SO:0001583	missense	3909				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	g.chr18:21364040C>T	L34155	CCDS11880.1, CCDS42419.1, CCDS45838.1, CCDS59307.1	18q11.2	2013-03-01	2002-08-29		ENSG00000053747	ENSG00000053747		"Laminins"	6483	protein-coding gene	gene with protein product		600805	"laminin, alpha 3 (nicein (150kD), kalinin (165kD), BM600 (150kD), epilegrin)"	LAMNA		8077230	Standard	NM_000227		Approved	nicein-150kDa, kalinin-165kDa, BM600-150kDa, epiligrin	uc002kuq.3	Q16787	OTTHUMG00000131874	ENST00000313654.9:c.1522C>T	18.37:g.21364040C>T	ENSP00000324532:p.Arg508Trp					LAMA3_ENST00000399516.3_Missense_Mutation_p.R508W	p.R508W	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN			12	1763	+	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)		508			Domain V.|Laminin EGF-like 4.		B0YJ33|Q13679|Q13680|Q6VU67|Q6VU68|Q6VU69|Q76E14|Q96TG0	Missense_Mutation	SNP	ENST00000313654.9	37	c.1522C>T	CCDS42419.1	.	.	.	.	.	.	.	.	.	.	C	12.26	1.885020	0.33255	0.0	1.21E-4	ENSG00000053747	ENST00000313654;ENST00000399516;ENST00000416669;ENST00000538801	T;T	0.34859	1.34;1.34	5.65	1.85	0.25348	EGF-like, laminin (3);	.	.	.	.	T	0.64000	0.2559	M	0.88181	2.935	0.26178	N	0.979761	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.96;0.998;0.995	T	0.57412	-0.7816	9	0.66056	D	0.02	.	12.0979	0.53765	0.5713:0.4287:0.0:0.0	.	510;508;508	F5H8G3;Q6VU67;Q16787	.;.;LAMA3_HUMAN	W	508;508;506;510	ENSP00000324532:R508W;ENSP00000382432:R508W	ENSP00000324532:R508W	R	+	1	2	LAMA3	19618038	0.992000	0.36948	0.911000	0.35937	0.011000	0.07611	2.370000	0.44240	0.086000	0.17137	-1.448000	0.01049	CGG		0.532	LAMA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254824.3	NM_000227, NM_198129		22	182	0	0	0	1	0	22	182					T	21364040	C	T	21364040	3	4	319	1	0	0	0	0	1	0	0	0	8607	527	19	1	1568	1	LAMA3	18	21364040	Missense_Mutation	SNP	C	TCGA-KK-A6E8-01A-11D-A31L-08		21364040	56713208	47	16387											
SGTA	6449	broad.mit.edu	37	chr19	2769012	2769012	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgagaggcccccgtgccggaGctggtcatgcaggaactgga	8	5	16	12	3	1	1	1	0	0	1	1	5	1	4	3	5	4	2	3	5	1	0			TCGA-KK-A6E8-01A-11D-A31L-08	TCGA-KK-A6E8-11A-11D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ea4c81-9106-43af-b2ce-2352d6fd4978	f79ad5e5-cf51-49cb-aafb-2c6ab3448ecc	g.chr19:2769012G>A	ENST00000221566.2	-	2	216	c.55C>T	c.(55-57)Ctc>Ttc	p.L19F		NM_003021.3	NP_003012.1	O43765	SGTA_HUMAN	small glutamine-rich tetratricopeptide repeat (TPR)-containing, alpha	19					viral process (GO:0016032)	cytoplasm (GO:0005737)				endometrium(2)|large_intestine(2)|lung(2)|ovary(1)	7		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCGTGCCGGAGCTGGTCATGC	0.637																																						ENST00000221566.2																			0				endometrium(2)|large_intestine(2)|lung(2)|ovary(1)	7						c.(55-57)Ctc>Ttc		small glutamine-rich tetratricopeptide repeat (TPR)-containing, alpha							79	85	83					19																	2769012		2203	4300	6503	SO:0001583	missense	6449				interspecies interaction between organisms	cytoplasm	protein binding	g.chr19:2769012G>A	AJ223828	CCDS12094.1	19p13	2013-01-10	2003-11-24	2003-11-26		ENSG00000104969		"Tetratricopeptide (TTC) repeat domain containing"	10819	protein-coding gene	gene with protein product		603419	"small glutamine-rich tetratricopeptide repeat (TPR)-containing"	SGT		9740675, 12735788	Standard	NM_003021		Approved		uc002lwi.1	O43765		ENST00000221566.2:c.55C>T	19.37:g.2769012G>A	ENSP00000221566:p.Leu19Phe						p.L19F	NM_003021.3	NP_003012.1	O43765	SGTA_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	2	216	-		Hepatocellular(1079;0.137)	19					D6W610|Q6FIA9|Q9BTZ9	Missense_Mutation	SNP	ENST00000221566.2	37	c.55C>T	CCDS12094.1	.	.	.	.	.	.	.	.	.	.	G	11.14	1.551134	0.27739	.	.	ENSG00000104969	ENST00000221566	T	0.38560	1.13	4.71	4.71	0.59529	.	0.068863	0.64402	D	0.000019	T	0.44180	0.1281	M	0.81341	2.54	0.46478	D	0.99906	B	0.20671	0.047	B	0.20577	0.03	T	0.47995	-0.9073	10	0.51188	T	0.08	-7.8158	8.9184	0.35596	0.1029:0.0:0.8971:0.0	.	19	O43765	SGTA_HUMAN	F	19	ENSP00000221566:L19F	ENSP00000221566:L19F	L	-	1	0	SGTA	2720012	1.000000	0.71417	0.997000	0.53966	0.432000	0.31715	3.918000	0.56432	2.165000	0.68154	0.491000	0.48974	CTC		0.637	SGTA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451448.2	NM_003021		42	56	0	0	0	1	0	42	56					A	2769012	G	A	2769012	3	1	319	1	0	0	0	0	1	0	0	0	14225	971	34	3	926	3	SGTA	19	2769012	Missense_Mutation	SNP	G	TCGA-KK-A6E8-01A-11D-A31L-08		2769012	56359971	48	16388											
MUC16	94025	broad.mit.edu	37	chr19	9058771	9058771	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggcattgttgtggaaaccaTgttgtctcttatagaggaag	11	13	12	5	0	1	1	0	0	1	1	2	3	1	3	1	3	1	3	1	3	4	5			TCGA-KK-A6E8-01A-11D-A31L-08	TCGA-KK-A6E8-11A-11D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ea4c81-9106-43af-b2ce-2352d6fd4978	f79ad5e5-cf51-49cb-aafb-2c6ab3448ecc	g.chr19:9058771T>C	ENST00000397910.4	-	3	28878	c.28675A>G	c.(28675-28677)Atg>Gtg	p.M9559V		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	9561	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GTGGAAACCATGTTGTCTCTT	0.493																																						ENST00000397910.4																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(28675-28677)Atg>Gtg		mucin 16, cell surface associated							91	87	88					19																	9058771		1952	4137	6089	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9058771T>C	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.28675A>G	19.37:g.9058771T>C	ENSP00000381008:p.Met9559Val						p.M9559V	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			3	28878	-			9561			Ser-rich.|Thr-rich.		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.28675A>G	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	t	3.294	-0.144249	0.06627	.	.	ENSG00000181143	ENST00000397910	T	0.20332	2.08	2.38	-1.44	0.08856	.	.	.	.	.	T	0.08223	0.0205	N	0.08118	0	.	.	.	B	0.02656	0.0	B	0.01281	0.0	T	0.32052	-0.9921	8	0.87932	D	0	.	0.241	0.00192	0.2308:0.1535:0.2357:0.3799	.	9559	B5ME49	.	V	9559	ENSP00000381008:M9559V	ENSP00000381008:M9559V	M	-	1	0	MUC16	8919771	0.000000	0.05858	0.000000	0.03702	0.093000	0.18481	-0.863000	0.04259	-0.429000	0.07329	0.254000	0.18369	ATG		0.493	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		11	16	0	0	0	1	0	11	16					C	9058771	T	C	9058771	3	2	319	1	0	0	0	0	1	0	0	0	9973	1464	51	4	15176	4	MUC16	19	9058771	Missense_Mutation	SNP	T	TCGA-KK-A6E8-01A-11D-A31L-08	6289759	9058771	50070212	49	16389											
PSG4	5672	broad.mit.edu	37	chr19	43702387	43702387	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctccatggcctccctgggAtttaagttgctgctggagat	6	12	12	11	0	0	1	0	0	0	1	2	3	2	2	4	3	2	3	4	3	1	3	rs137963702	byFrequency	TCGA-KK-A6E8-01A-11D-A31L-08	TCGA-KK-A6E8-11A-11D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ea4c81-9106-43af-b2ce-2352d6fd4978	f79ad5e5-cf51-49cb-aafb-2c6ab3448ecc	g.chr19:43702387A>G	ENST00000405312.3	-	3	708	c.471T>C	c.(469-471)aaT>aaC	p.N157N	PSG4_ENST00000433626.2_Intron|PSG4_ENST00000244295.9_Silent_p.N157N	NM_002780.3	NP_002771.2	Q00888	PSG4_HUMAN	pregnancy specific beta-1-glycoprotein 4	157	Ig-like C2-type 1.				female pregnancy (GO:0007565)	extracellular vesicular exosome (GO:0070062)				central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	24		Prostate(69;0.00682)				CCTCCCTGGGATTTAAGTTGC	0.532													A|||	3	0.000599042	0.0015	0	5008	,	,		14437	0.001		0	False		,,,				2504	0					ENST00000405312.3																			0				central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	24						c.(469-471)aaT>aaC		pregnancy specific beta-1-glycoprotein 4		A	,	12,4242		3,6,2118	133	152	145		471,471	-0.4	0	19	dbSNP_134	145	0,8542		0,0,4271	no	coding-synonymous,coding-synonymous	PSG4	NM_002780.3,NM_213633.1	,	3,6,6389	GG,GA,AA		0.0,0.2821,0.0938	,	157/420,157/327	43702387	12,12784	2127	4271	6398	SO:0001819	synonymous_variant	5672				defense response|female pregnancy	extracellular region		g.chr19:43702387A>G		CCDS33039.1, CCDS46093.1, CCDS62695.1	19q13.2	2013-01-29			ENSG00000243137	ENSG00000243137		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	9521	protein-coding gene	gene with protein product	"pregnancy-specific beta-1-glycoprotein 4"	176393				2783133	Standard	NM_002780		Approved		uc002ovy.4	Q00888	OTTHUMG00000151544	ENST00000405312.3:c.471T>C	19.37:g.43702387A>G						PSG4_ENST00000244295.9_Silent_p.N157N|PSG4_ENST00000433626.2_Intron	p.N157N	NM_002780.3	NP_002771.2	Q00888	PSG4_HUMAN			3	708	-		Prostate(69;0.00682)	157			Ig-like C2-type 1.		E7EX79|Q13047|Q13048|Q15234|Q15240|Q9UQ76	Silent	SNP	ENST00000405312.3	37	c.471T>C	CCDS46093.1																																																																																				0.532	PSG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323073.1	NM_213633		4	213	0	0	0	1	0	4	213					G	43702387	A	G	43702387	2	3	319	1	0	0	0	0	0	0	0	1	12657	330	12	4		4	PSG4	19	43702387	Silent	SNP	A	TCGA-KK-A6E8-01A-11D-A31L-08	34643616	43702387	15426596	50	16390											
IRGQ	126298	broad.mit.edu	37	chr19	44097045	44097045	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccagacactccggatcctcGccctcgccgtctgtgcgcac	5	7	9	20	5	1	1	0	0	1	1	5	2	3	2	5	1	1	1	5	1	0	0			TCGA-KK-A6E8-01A-11D-A31L-08	TCGA-KK-A6E8-11A-11D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ea4c81-9106-43af-b2ce-2352d6fd4978	f79ad5e5-cf51-49cb-aafb-2c6ab3448ecc	g.chr19:44097045G>A	ENST00000602269.1	-	2	1190	c.1005C>T	c.(1003-1005)ggC>ggT	p.G335G	IRGQ_ENST00000422989.1_Silent_p.G335G|IRGQ_ENST00000601520.1_5'UTR|L34079.2_ENST00000594374.1_Silent_p.G48G			Q8WZA9	IRGQ_HUMAN	immunity-related GTPase family, Q	335	IRG-type G.									endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(3)	18		Prostate(69;0.0199)				CCGGATCCTCGCCCTCGCCGT	0.617																																						ENST00000422989.1																			0				endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(3)	18						c.(1003-1005)ggC>ggT		immunity-related GTPase family, Q							159	154	155					19																	44097045		2203	4300	6503	SO:0001819	synonymous_variant	126298						protein binding	g.chr19:44097045G>A	AF322648	CCDS33040.1	19q13.31	2013-07-03	2005-10-31	2005-10-31		ENSG00000167378			24868	protein-coding gene	gene with protein product			"immunity-related GTPase family, Q1"	IRGQ1		16277747	Standard	NM_001007561		Approved	FKSG27	uc010eiv.2	Q8WZA9		ENST00000602269.1:c.1005C>T	19.37:g.44097045G>A						IRGQ_ENST00000602269.1_Silent_p.G335G|IRGQ_ENST00000601520.1_5'UTR|L34079.2_ENST00000594374.1_Silent_p.G48G	p.G335G	NM_001007561.2	NP_001007562.1	Q8WZA9	IRGQ_HUMAN			3	1160	-		Prostate(69;0.0199)	335					B2RNP3	Silent	SNP	ENST00000602269.1	37	c.1005C>T	CCDS33040.1																																																																																				0.617	IRGQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463205.1	NM_001007561		12	153	0	0	0	1	0	12	153					A	44097045	G	A	44097045	2	1	319	1	0	0	0	0	0	0	0	1	7839	1074	38	1		1	IRGQ	19	44097045	Silent	SNP	G	TCGA-KK-A6E8-01A-11D-A31L-08	394658	44097045	15031938	51	16391											
SNRPD2	6633	broad.mit.edu	37	chr19	46191769	46191769	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggtgttaaattcctcctcctCtcgcttctgcagctcctctg	4	15	7	15	1	3	0	0	0	3	0	8	0	7	0	4	1	2	4	4	1	2	3			TCGA-KK-A6E8-01A-11D-A31L-08	TCGA-KK-A6E8-11A-11D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ea4c81-9106-43af-b2ce-2352d6fd4978	f79ad5e5-cf51-49cb-aafb-2c6ab3448ecc	g.chr19:46191769C>G	ENST00000342669.3	-	2	502	c.58G>C	c.(58-60)Gag>Cag	p.E20Q	SNRPD2_ENST00000588301.1_Missense_Mutation_p.E20Q|SNRPD2_ENST00000585392.1_Intron|SNRPD2_ENST00000590212.1_Missense_Mutation_p.E20Q|SNRPD2_ENST00000587367.1_Missense_Mutation_p.E10Q|SNRPD2_ENST00000391932.3_Missense_Mutation_p.E10Q|SNRPD2_ENST00000588599.1_Missense_Mutation_p.E10Q	NM_004597.5	NP_004588.1	P62316	SMD2_HUMAN	small nuclear ribonucleoprotein D2 polypeptide 16.5kDa	20					gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|ncRNA metabolic process (GO:0034660)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|spliceosomal complex assembly (GO:0000245)|spliceosomal snRNP assembly (GO:0000387)	catalytic step 2 spliceosome (GO:0071013)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|methylosome (GO:0034709)|nucleoplasm (GO:0005654)|pICln-Sm protein complex (GO:0034715)|small nuclear ribonucleoprotein complex (GO:0030532)|SMN-Sm protein complex (GO:0034719)|spliceosomal complex (GO:0005681)|U1 snRNP (GO:0005685)|U12-type spliceosomal complex (GO:0005689)|U4 snRNP (GO:0005687)	poly(A) RNA binding (GO:0044822)			breast(1)|large_intestine(1)|lung(2)	4		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00546)|GBM - Glioblastoma multiforme(486;0.0807)|Epithelial(262;0.194)		TCCTCCTCCTCTCGCTTCTGC	0.502																																						ENST00000342669.3																			0				breast(1)|large_intestine(1)|lung(2)	4						c.(58-60)Gag>Cag		small nuclear ribonucleoprotein D2 polypeptide 16.5kDa							216	169	185					19																	46191769		2203	4300	6503	SO:0001583	missense	6633				ncRNA metabolic process|spliceosomal snRNP assembly|spliceosome assembly	catalytic step 2 spliceosome|cytosol|nucleoplasm|small nuclear ribonucleoprotein complex|U12-type spliceosomal complex	protein binding	g.chr19:46191769C>G		CCDS33053.1, CCDS54281.1	19q13.2-q13.3	2011-10-11	2002-08-29		ENSG00000125743	ENSG00000125743			11159	protein-coding gene	gene with protein product	"snRNP core protein D2"	601061	"small nuclear ribonucleoprotein D2 polypeptide (16.5kD)"	SNRPD1		7527560, 1701240	Standard	NM_004597		Approved	Sm-D2	uc002pcw.3	P62316		ENST00000342669.3:c.58G>C	19.37:g.46191769C>G	ENSP00000342374:p.Glu20Gln					SNRPD2_ENST00000590212.1_Missense_Mutation_p.E20Q|SNRPD2_ENST00000588599.1_Missense_Mutation_p.E10Q|SNRPD2_ENST00000588301.1_Missense_Mutation_p.E20Q|SNRPD2_ENST00000587367.1_Missense_Mutation_p.E10Q|SNRPD2_ENST00000585392.1_Intron|SNRPD2_ENST00000391932.3_Missense_Mutation_p.E10Q	p.E20Q	NM_004597.5	NP_004588.1	P62316	SMD2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00546)|GBM - Glioblastoma multiforme(486;0.0807)|Epithelial(262;0.194)	2	502	-		Ovarian(192;0.051)|all_neural(266;0.112)	20					A8K797|J3KPM5|P43330	Missense_Mutation	SNP	ENST00000342669.3	37	c.58G>C	CCDS33053.1	.	.	.	.	.	.	.	.	.	.	C	28.9	4.958904	0.92726	.	.	ENSG00000125743	ENST00000342669;ENST00000391932	.	.	.	5.85	5.85	0.93711	.	0.000000	0.85682	D	0.000000	T	0.76849	0.4045	M	0.84773	2.715	0.80722	D	1	P	0.51351	0.944	P	0.52758	0.708	T	0.78912	-0.2017	9	0.51188	T	0.08	.	17.6515	0.88165	0.0:1.0:0.0:0.0	.	20	P62316	SMD2_HUMAN	Q	20;10	.	ENSP00000342374:E20Q	E	-	1	0	SNRPD2	50883609	1.000000	0.71417	1.000000	0.80357	0.831000	0.47069	7.185000	0.77714	2.767000	0.95098	0.655000	0.94253	GAG		0.502	SNRPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459648.1	NM_004597		45	73	0	0	0	1	0	45	73					G	46191769	C	G	46191769	3	3	319	1	0	0	0	0	1	0	0	0	14865	922	32	5	306	5	SNRPD2	19	46191769	Missense_Mutation	SNP	C	TCGA-KK-A6E8-01A-11D-A31L-08	2094724	46191769	12937214	52	16392											
MAMSTR	284358	broad.mit.edu	37	chr19	49217169	49217169	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cctccagagtcagagccgctGagcccggccctgaggaaggg	8	4	15	14	2	1	4	1	2	0	2	2	5	2	5	5	3	2	1	5	3	1	0			TCGA-KK-A6E8-01A-11D-A31L-08	TCGA-KK-A6E8-11A-11D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ea4c81-9106-43af-b2ce-2352d6fd4978	f79ad5e5-cf51-49cb-aafb-2c6ab3448ecc	g.chr19:49217169G>A	ENST00000318083.6	-	8	920	c.857C>T	c.(856-858)tCa>tTa	p.S286L	MAMSTR_ENST00000356751.4_Missense_Mutation_p.S183L|MAMSTR_ENST00000377367.3_Missense_Mutation_p.S118L|MAMSTR_ENST00000594582.1_Missense_Mutation_p.S118L|MAMSTR_ENST00000419611.1_Missense_Mutation_p.S183L			Q6ZN01	MASTR_HUMAN	MEF2 activating motif and SAP domain containing transcriptional regulator	286	Pro-rich.|Transcription activation. {ECO:0000250}.				positive regulation of myotube differentiation (GO:0010831)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)			endometrium(1)|ovary(1)	2						CAGAGCCgctgagcccggccc	0.672																																						ENST00000318083.6																			0				endometrium(1)|ovary(1)	2						c.(856-858)tCa>tTa		MEF2 activating motif and SAP domain containing transcriptional regulator							41	45	44					19																	49217169		2202	4300	6502	SO:0001583	missense	284358				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding	g.chr19:49217169G>A	AK093389	CCDS12730.1, CCDS46137.1, CCDS74415.1	19q13.33	2009-07-09			ENSG00000176909	ENSG00000176909			26689	protein-coding gene	gene with protein product	"MEF2-activating SAP transcriptional regulator"	610349				16818234	Standard	NM_182574		Approved	MASTR, FLJ36070	uc002pkg.2	Q6ZN01		ENST00000318083.6:c.857C>T	19.37:g.49217169G>A	ENSP00000324175:p.Ser286Leu					MAMSTR_ENST00000356751.4_Missense_Mutation_p.S183L|MAMSTR_ENST00000377367.3_Missense_Mutation_p.S118L|MAMSTR_ENST00000594582.1_Missense_Mutation_p.S118L|MAMSTR_ENST00000419611.1_Missense_Mutation_p.S183L	p.S286L			Q6ZN01	MASTR_HUMAN			8	920	-			286			Pro-rich.|Transcription activation (By similarity).		B7ZKX4|Q3KQU9|Q8N9Y3	Missense_Mutation	SNP	ENST00000318083.6	37	c.857C>T	CCDS46137.1	.	.	.	.	.	.	.	.	.	.	G	14.42	2.529148	0.44969	.	.	ENSG00000176909	ENST00000318083;ENST00000419611;ENST00000377367;ENST00000356751	.	.	.	4.77	3.74	0.42951	.	1.377210	0.04718	N	0.418883	T	0.34629	0.0904	L	0.27053	0.805	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.24977	-1.0145	9	0.66056	D	0.02	1.166	9.1096	0.36718	0.0996:0.0:0.9004:0.0	.	286	Q6ZN01	MASTR_HUMAN	L	286;183;118;183	.	ENSP00000324175:S286L	S	-	2	0	MAMSTR	53908981	0.008000	0.16893	0.002000	0.10522	0.009000	0.06853	1.730000	0.38125	1.379000	0.46325	0.549000	0.68633	TCA		0.672	MAMSTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466179.1	NM_182574		12	81	0	0	0	1	0	12	81					A	49217169	G	A	49217169	3	1	319	1	0	0	0	0	1	0	0	0	9209	1294	45	3	402	3	MAMSTR	19	49217169	Missense_Mutation	SNP	G	TCGA-KK-A6E8-01A-11D-A31L-08	3025400	49217169	9911814	53	16393											
SHANK1	50944	broad.mit.edu	37	chr19	51172430	51172430	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtgtgctgtagggaggctcCggtggggacgtggtgggtgg	3	9	24	5	2	0	0	0	0	0	0	1	2	1	2	1	9	1	3	1	9	1	1			TCGA-KK-A6E8-01A-11D-A31L-08	TCGA-KK-A6E8-11A-11D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ea4c81-9106-43af-b2ce-2352d6fd4978	f79ad5e5-cf51-49cb-aafb-2c6ab3448ecc	g.chr19:51172430C>A	ENST00000293441.1	-	22	2805	c.2787G>T	c.(2785-2787)ccG>ccT	p.P929P	SHANK1_ENST00000391813.1_Silent_p.P316P|SHANK1_ENST00000359082.3_Silent_p.P920P|SHANK1_ENST00000391814.1_Silent_p.P937P|SYT3_ENST00000544769.1_5'Flank	NM_016148.2	NP_057232.2	Q9Y566	SHAN1_HUMAN	SH3 and multiple ankyrin repeat domains 1	929					adult behavior (GO:0030534)|associative learning (GO:0008306)|cytoskeletal anchoring at plasma membrane (GO:0007016)|dendritic spine morphogenesis (GO:0060997)|determination of affect (GO:0050894)|habituation (GO:0046959)|long-term memory (GO:0007616)|negative regulation of actin filament bundle assembly (GO:0032232)|neuromuscular process controlling balance (GO:0050885)|olfactory behavior (GO:0042048)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|protein complex assembly (GO:0006461)|protein localization to synapse (GO:0035418)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|righting reflex (GO:0060013)|social behavior (GO:0035176)|synapse maturation (GO:0060074)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|excitatory synapse (GO:0060076)|intracellular (GO:0005622)|membrane (GO:0016020)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	ankyrin repeat binding (GO:0071532)|GKAP/Homer scaffold activity (GO:0030160)|identical protein binding (GO:0042802)|ionotropic glutamate receptor binding (GO:0035255)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|scaffold protein binding (GO:0097110)|SH3 domain binding (GO:0017124)|somatostatin receptor binding (GO:0031877)			breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		AGGGAGGCTCCGGTGGGGACG	0.672											OREG0025642	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000293441.1																			0				breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64						c.(2785-2787)ccG>ccT		SH3 and multiple ankyrin repeat domains 1							24	24	24					19																	51172430		2202	4300	6502	SO:0001819	synonymous_variant	50944				cytoskeletal anchoring at plasma membrane	cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane	ionotropic glutamate receptor binding	g.chr19:51172430C>A	AF163302	CCDS12799.1	19q13.3	2013-01-10			ENSG00000161681	ENSG00000161681		"Sterile alpha motif (SAM) domain containing", "Ankyrin repeat domain containing"	15474	protein-coding gene	gene with protein product	"somatostatin receptor-interacting protein"	604999				10551867	Standard	NM_016148		Approved	SSTRIP, SPANK-1, synamon	uc002psx.1	Q9Y566	OTTHUMG00000137380	ENST00000293441.1:c.2787G>T	19.37:g.51172430C>A			OREG0025642	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	975	SHANK1_ENST00000391813.1_Silent_p.P316P|SHANK1_ENST00000391814.1_Silent_p.P937P|SHANK1_ENST00000359082.3_Silent_p.P920P	p.P929P	NM_016148.2	NP_057232.2	Q9Y566	SHAN1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)	22	2805	-		all_neural(266;0.057)	929					A8MXP5|B7WNY6|Q9NYW9	Silent	SNP	ENST00000293441.1	37	c.2787G>T	CCDS12799.1																																																																																				0.672	SHANK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268071.1	NM_016148		6	11	1	0	0.000157383	1	0.000168428	6	11					A	51172430	C	A	51172430	2	1	319	1	0	0	0	0	0	0	0	1	14264	639	23	5		5	SHANK1	19	51172430	Silent	SNP	C	TCGA-KK-A6E8-01A-11D-A31L-08	1955261	51172430	7956553	54	16394											
SYCP2	10388	broad.mit.edu	37	chr20	58467116	58467116	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctctgcttttctatgactttGcacatttttgctagcagatg	7	18	7	9	0	2	2	0	1	2	1	2	2	2	2	0	0	4	4	0	0	2	7			TCGA-KK-A6E8-01A-11D-A31L-08	TCGA-KK-A6E8-11A-11D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ea4c81-9106-43af-b2ce-2352d6fd4978	f79ad5e5-cf51-49cb-aafb-2c6ab3448ecc	g.chr20:58467116G>A	ENST00000357552.3	-	24	2518	c.2293C>T	c.(2293-2295)Caa>Taa	p.Q765*	SYCP2_ENST00000371001.2_Nonsense_Mutation_p.Q765*			Q9BX26	SYCP2_HUMAN	synaptonemal complex protein 2	765					female meiotic division (GO:0007143)|fertilization (GO:0009566)|male genitalia morphogenesis (GO:0048808)|male meiosis (GO:0007140)|negative regulation of apoptotic process (GO:0043066)|synaptonemal complex assembly (GO:0007130)	lateral element (GO:0000800)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	DNA binding (GO:0003677)			NS(4)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;1.19e-09)			CTATGACTTTGCACATTTTTG	0.338																																						ENST00000357552.3																			0				NS(4)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53						c.(2293-2295)Caa>Taa		synaptonemal complex protein 2							102	97	99					20																	58467116		2203	4299	6502	SO:0001587	stop_gained	10388				cell division|meiotic prophase I|synaptonemal complex assembly		DNA binding	g.chr20:58467116G>A	Y08982	CCDS13482.1	20q13.33	2007-07-02			ENSG00000196074	ENSG00000196074			11490	protein-coding gene	gene with protein product		604105				10341103, 9592139	Standard	NM_014258		Approved	SCP2	uc002yaz.3	Q9BX26	OTTHUMG00000032872	ENST00000357552.3:c.2293C>T	20.37:g.58467116G>A	ENSP00000350162:p.Gln765*					SYCP2_ENST00000371001.2_Nonsense_Mutation_p.Q765*	p.Q765*			Q9BX26	SYCP2_HUMAN	BRCA - Breast invasive adenocarcinoma(7;1.19e-09)		24	2518	-	all_lung(29;0.00344)		765					A2RUE5|O75763|Q5JX11|Q9NTX8|Q9UG27	Nonsense_Mutation	SNP	ENST00000357552.3	37	c.2293C>T	CCDS13482.1	.	.	.	.	.	.	.	.	.	.	G	33	5.220215	0.95139	.	.	ENSG00000196074	ENST00000371001;ENST00000357552;ENST00000446834	.	.	.	5.32	1.67	0.24075	.	0.692004	0.14561	N	0.312059	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-1.9262	5.4721	0.16676	0.0:0.0914:0.3564:0.5521	.	.	.	.	X	765	.	ENSP00000350162:Q765X	Q	-	1	0	SYCP2	57900511	0.000000	0.05858	0.000000	0.03702	0.140000	0.21249	-0.135000	0.10420	0.384000	0.24942	-0.362000	0.07510	CAA		0.338	SYCP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079930.3	NM_014258		17	21	0	0	0	1	0	17	21					A	58467116	G	A	58467116	4	1	319	1	0	0	0	0	0	1	0	0	15429	1328	46	3	2387	3	SYCP2	20	58467116	Nonsense_Mutation	SNP	G	TCGA-KK-A6E8-01A-11D-A31L-08		58467116	4558404	55	16395											
ARFGAP3	26286	broad.mit.edu	37	chr22	43203169	43203169	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	taggcgggccctggtctcatActagagaagacaaggaaaag	14	6	13	8	1	1	2	1	0	1	2	2	4	1	3	1	4	1	0	1	4	7	3			TCGA-KK-A6E8-01A-11D-A31L-08	TCGA-KK-A6E8-11A-11D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ea4c81-9106-43af-b2ce-2352d6fd4978	f79ad5e5-cf51-49cb-aafb-2c6ab3448ecc	g.chr22:43203169A>G	ENST00000263245.5	-	14	1540	c.1321T>C	c.(1321-1323)Tat>Cat	p.Y441H	ARFGAP3_ENST00000429508.2_Splice_Site_p.Y369H|ARFGAP3_ENST00000437119.2_Splice_Site_p.Y397H	NM_001142293.1|NM_014570.4	NP_001135765.1|NP_055385.3	Q9NP61	ARFG3_HUMAN	ADP-ribosylation factor GTPase activating protein 3	441					intracellular protein transport (GO:0006886)|positive regulation of GTPase activity (GO:0043547)|protein secretion (GO:0009306)|regulation of ARF GTPase activity (GO:0032312)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	ARF GTPase activator activity (GO:0008060)|protein transporter activity (GO:0008565)|zinc ion binding (GO:0008270)			breast(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)	11						CTGGTCTCATACTAGAGAAGA	0.512																																					GBM(58;544 1030 21460 27159 48838)	ENST00000263245.5																			0				breast(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)	11						c.e14-1		ADP-ribosylation factor GTPase activating protein 3							30	29	29					22																	43203169		2203	4299	6502	SO:0001630	splice_region_variant	26286				intracellular protein transport|protein secretion|regulation of ARF GTPase activity|vesicle-mediated transport	cytosol|Golgi membrane	ARF GTPase activator activity|protein transporter activity|zinc ion binding	g.chr22:43203169A>G	AK002083	CCDS14042.1, CCDS46722.1	22q13.2	2009-11-30	2002-08-20	2002-08-23	ENSG00000242247	ENSG00000242247		"ADP-ribosylation factor GTPase activating proteins"	661	protein-coding gene	gene with protein product		612439	"ADP-ribosylation factor GTPase activating protein 1"	ARFGAP1		10704287, 11172815	Standard	NM_014570		Approved		uc003bdd.2	Q9NP61	OTTHUMG00000150718	ENST00000263245.5:c.1321-1T>C	22.37:g.43203169A>G						ARFGAP3_ENST00000429508.2_Splice_Site_p.Y369_splice|ARFGAP3_ENST00000437119.2_Splice_Site_p.Y397_splice	p.Y441_splice	NM_001142293.1|NM_014570.4	NP_001135765.1|NP_055385.3	Q9NP61	ARFG3_HUMAN			14	1540	-			441					E9PB03|Q9BSC6|Q9H9J0|Q9NT10|Q9NUP5|Q9Y4V3|Q9Y4V4	Splice_Site	SNP	ENST00000263245.5	37	c.1320_splice	CCDS14042.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	16.05|16.05	3.014123|3.014123	0.54468|0.54468	.|.	.|.	ENSG00000242247|ENSG00000242247	ENST00000453516|ENST00000263245;ENST00000429508;ENST00000437119	.|T;T;T	.|0.06294	.|3.48;3.32;3.43	4.83|4.83	4.83|4.83	0.62350|0.62350	.|.	.|0.245144	.|0.35677	.|N	.|0.003050	T|T	0.13543|0.13543	0.0328|0.0328	M|M	0.80422|0.80422	2.495|2.495	0.48087|0.48087	D|D	0.999582|0.999582	.|P;P	.|0.47604	.|0.513;0.898	.|B;P	.|0.44447	.|0.182;0.45	T|T	0.01574|0.01574	-1.1321|-1.1321	5|10	.|0.52906	.|T	.|0.07	-25.5876|-25.5876	12.3434|12.3434	0.55107|0.55107	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|397;441	.|E9PB03;Q9NP61	.|.;ARFG3_HUMAN	S|H	243|441;369;397	.|ENSP00000263245:Y441H;ENSP00000393959:Y369H;ENSP00000388791:Y397H	.|ENSP00000263245:Y441H	L|Y	-|-	2|1	0|0	ARFGAP3|ARFGAP3	41533113|41533113	1.000000|1.000000	0.71417|0.71417	0.956000|0.956000	0.39512|0.39512	0.165000|0.165000	0.22458|0.22458	7.663000|7.663000	0.83820|0.83820	1.797000|1.797000	0.52628|0.52628	0.528000|0.528000	0.53228|0.53228	TTA|TAT		0.512	ARFGAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319747.2	NM_014570	Missense_Mutation	7	8	0	0	0	1	0	7	8					G	43203169	A	G	43203169	5	3	319	1	0	0	0	0	0	0	1	0	851	405	14	4	241	4	ARFGAP3	22	43203169	Splice_Site	SNP	A	TCGA-KK-A6E8-01A-11D-A31L-08		43203169	8101397	56	16396											
FBLN1	2192	broad.mit.edu	37	chr22	45946380	45946380	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggtctcttgcagacattgatGagtgtgtgactggcatccac	8	12	12	9	0	1	4	0	3	1	1	3	4	2	4	1	2	1	2	1	2	0	2			TCGA-KK-A6E8-01A-11D-A31L-08	TCGA-KK-A6E8-11A-11D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ea4c81-9106-43af-b2ce-2352d6fd4978	f79ad5e5-cf51-49cb-aafb-2c6ab3448ecc	g.chr22:45946380G>A	ENST00000327858.6	+	14	1677	c.1582G>A	c.(1582-1584)Gag>Aag	p.E528K	FBLN1_ENST00000262722.7_Missense_Mutation_p.E528K|FBLN1_ENST00000476366.1_3'UTR|FBLN1_ENST00000402984.3_Missense_Mutation_p.E566K|FBLN1_ENST00000340923.5_Missense_Mutation_p.E528K|FBLN1_ENST00000442170.2_Missense_Mutation_p.E528K|FBLN1_ENST00000348697.2_Missense_Mutation_p.E528K	NM_006486.2	NP_006477	P23142	FBLN1_HUMAN	fibulin 1	528	EGF-like 9; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				embryo implantation (GO:0007566)|extracellular matrix organization (GO:0030198)|viral process (GO:0016032)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)|peptidase activator activity (GO:0016504)			biliary_tract(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)	30		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		AGACATTGATGAGTGTGTGAC	0.587																																						ENST00000348697.2																			0				biliary_tract(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)	30						c.(1582-1584)Gag>Aag		fibulin 1							79	63	68					22																	45946380		2203	4300	6503	SO:0001583	missense	2192				interspecies interaction between organisms	extracellular space|soluble fraction	calcium ion binding|extracellular matrix structural constituent|protein binding	g.chr22:45946380G>A		CCDS14067.1, CCDS14068.1, CCDS14069.1, CCDS43028.1	22q13.31	2010-06-15			ENSG00000077942	ENSG00000077942		"Fibulins"	3600	protein-coding gene	gene with protein product		135820				2269669, 1400330	Standard	NM_006485		Approved	FBLN	uc003bgj.1	P23142	OTTHUMG00000151340	ENST00000327858.6:c.1582G>A	22.37:g.45946380G>A	ENSP00000331544:p.Glu528Lys					FBLN1_ENST00000340923.5_Missense_Mutation_p.E528K|FBLN1_ENST00000402984.3_Missense_Mutation_p.E566K|FBLN1_ENST00000442170.2_Missense_Mutation_p.E528K|FBLN1_ENST00000327858.6_Missense_Mutation_p.E528K|FBLN1_ENST00000476366.1_3'UTR|FBLN1_ENST00000262722.7_Missense_Mutation_p.E528K	p.E528K			P23142	FBLN1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)	14	1729	+		Ovarian(80;0.00965)|all_neural(38;0.0416)	528			EGF-like 9; calcium-binding.		B0QY42|B1AHL4|P23143|P23144|P37888|Q5TIC4|Q8TBH8|Q9HBQ5|Q9UC21|Q9UGR4|Q9UH41	Missense_Mutation	SNP	ENST00000327858.6	37	c.1582G>A	CCDS14067.1	.	.	.	.	.	.	.	.	.	.	G	32	5.139592	0.94560	.	.	ENSG00000077942	ENST00000348697;ENST00000402984;ENST00000262722;ENST00000327858;ENST00000442170;ENST00000340923	D;D;D;D;D;D	0.99797	-5.18;-6.79;-5.18;-5.18;-5.18;-5.18	4.97	4.97	0.65823	EGF-like calcium-binding, conserved site (1);Epidermal growth factor-like (1);EGF-like calcium-binding (1);	0.000000	0.85682	D	0.000000	D	0.99849	0.9930	H	0.95679	3.705	0.80722	D	1	D;D;D;D	0.69078	0.995;0.997;0.995;0.982	D;D;D;P	0.68483	0.942;0.92;0.958;0.853	D	0.96602	0.9445	10	0.87932	D	0	.	17.8361	0.88697	0.0:0.0:1.0:0.0	.	566;528;528;528	B1AHL2;P23142;B1AHL4;P23142-4	.;FBLN1_HUMAN;.;.	K	528;566;528;528;528;528	ENSP00000262723:E528K;ENSP00000385521:E566K;ENSP00000262722:E528K;ENSP00000331544:E528K;ENSP00000393812:E528K;ENSP00000342212:E528K	ENSP00000262722:E528K	E	+	1	0	FBLN1	44325044	1.000000	0.71417	0.950000	0.38849	0.877000	0.50540	9.157000	0.94714	2.311000	0.77944	0.561000	0.74099	GAG		0.587	FBLN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000322287.1	NM_006486		9	35	0	0	0	1	0	9	35					A	45946380	G	A	45946380	3	1	319	1	0	0	0	0	1	0	0	0	5698	1291	45	3	1636	3	FBLN1	22	45946380	Missense_Mutation	SNP	G	TCGA-KK-A6E8-01A-11D-A31L-08	2743211	45946380	5358186	57	16397											
KDM6A	7403	broad.mit.edu	37	chrX	44942769	44942769	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgcgtgtcgtatcagcaggaAatcttctaagccatgttggt	9	13	11	8	2	3	0	1	0	2	0	4	1	3	1	1	2	3	3	1	2	3	4			TCGA-KK-A6E8-01A-11D-A31L-08	TCGA-KK-A6E8-11A-11D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ea4c81-9106-43af-b2ce-2352d6fd4978	f79ad5e5-cf51-49cb-aafb-2c6ab3448ecc	g.chrX:44942769A>T	ENST00000377967.4	+	23	3390	c.3349A>T	c.(3349-3351)Aat>Tat	p.N1117Y	KDM6A_ENST00000382899.4_Missense_Mutation_p.N1124Y|KDM6A_ENST00000536777.1_Missense_Mutation_p.N1072Y|KDM6A_ENST00000543216.1_Missense_Mutation_p.N1038Y	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN	lysine (K)-specific demethylase 6A	1117	JmjC. {ECO:0000255|PROSITE- ProRule:PRU00538}.				canonical Wnt signaling pathway (GO:0060070)|heart morphogenesis (GO:0003007)|histone H3-K4 methylation (GO:0051568)|in utero embryonic development (GO:0001701)|mesodermal cell differentiation (GO:0048333)|multicellular organism growth (GO:0035264)|neural tube closure (GO:0001843)|notochord morphogenesis (GO:0048570)|regulation of gene expression (GO:0010468)|respiratory system process (GO:0003016)|somite rostral/caudal axis specification (GO:0032525)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|histone demethylase activity (H3-K27 specific) (GO:0071558)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)	p.0?(6)		NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						ATCAGCAGGAAATCTTCTAAG	0.413			"D, N, F, S"		"renal, oesophageal SCC, MM"																																Colon(129;1273 1667 15230 27352 52914)	ENST00000377967.4				Rec	yes		X	Xp11.2	7403	"D, N, F, S"	"lysine (K)-specific demethylase 6A, UTX"			"E, L"			"renal, oesophageal SCC, MM"		6	Whole gene deletion(6)	p.0?(6)	oesophagus(2)|breast(2)|pancreas(2)	NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						c.(3349-3351)Aat>Tat		lysine (K)-specific demethylase 6A							153	111	125					X																	44942769		2203	4300	6503	SO:0001583	missense	7403				histone H3-K4 methylation		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chrX:44942769A>T	AF000992	CCDS14265.1	Xp11.2	2014-09-17	2009-04-17	2009-04-17	ENSG00000147050	ENSG00000147050		"Chromatin-modifying enzymes / K-demethylases", "Tetratricopeptide (TTC) repeat domain containing"	12637	protein-coding gene	gene with protein product		300128	"ubiquitously transcribed tetratricopeptide repeat, X chromosome"	UTX		9499428, 9381176	Standard	XM_005272655		Approved		uc004dge.4	O15550	OTTHUMG00000021402	ENST00000377967.4:c.3349A>T	X.37:g.44942769A>T	ENSP00000367203:p.Asn1117Tyr					KDM6A_ENST00000536777.1_Missense_Mutation_p.N1072Y|KDM6A_ENST00000543216.1_Missense_Mutation_p.N1038Y|KDM6A_ENST00000382899.4_Missense_Mutation_p.N1124Y	p.N1117Y	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN			23	3390	+			1117			JmjC.		Q52LL9|Q5JVQ7	Missense_Mutation	SNP	ENST00000377967.4	37	c.3349A>T	CCDS14265.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	27.3|27.3	4.822671|4.822671	0.90873|0.90873	.|.	.|.	ENSG00000147050|ENSG00000147050	ENST00000414389;ENST00000433797|ENST00000334516;ENST00000377967;ENST00000536777;ENST00000382899;ENST00000543216	.|T;T;T;T	.|0.72394	.|-0.65;-0.65;-0.65;-0.65	5.24|5.24	5.24|5.24	0.73138|0.73138	.|Transcription factor jumonji/aspartyl beta-hydroxylase (2);	.|0.043831	.|0.85682	.|D	.|0.000000	D|D	0.87220|0.87220	0.6123|0.6123	M|M	0.92507|0.92507	3.315|3.315	0.80722|0.80722	D|D	1|1	.|D;P;P;D;D	.|0.71674	.|0.998;0.763;0.82;0.991;0.975	.|D;B;P;P;D	.|0.77557	.|0.99;0.351;0.843;0.886;0.928	D|D	0.90304|0.90304	0.4332|0.4332	5|10	.|0.87932	.|D	.|0	-4.5339|-4.5339	14.2463|14.2463	0.65990|0.65990	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|756;1124;1072;1169;1117	.|B4E0L8;F8W8R6;F5H6S1;B7ZKN5;O15550	.|.;.;.;.;KDM6A_HUMAN	I|Y	714;759|814;1117;1072;1124;1038	.|ENSP00000367203:N1117Y;ENSP00000437405:N1072Y;ENSP00000372355:N1124Y;ENSP00000443078:N1038Y	.|ENSP00000334340:N814Y	K|N	+|+	2|1	0|0	KDM6A|KDM6A	44827713|44827713	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	7.049000|7.049000	0.76613|0.76613	1.742000|1.742000	0.51746|0.51746	0.472000|0.472000	0.43445|0.43445	AAA|AAT		0.413	KDM6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056324.1	NM_021140		27	3	0	0	0	1	0	27	3					T	44942769	A	T	44942769	3	4	319	1	0	0	0	0	1	0	0	0	8137	14	1	5	3439	5	KDM6A	23	44942769	Missense_Mutation	SNP	A	TCGA-KK-A6E8-01A-11D-A31L-08		44942769	110327791	58	16398											
COL4A5	1287	broad.mit.edu	37	chrX	107938642	107938642	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcctacagcttttggctggCaactgtagatgtgtcagaca	9	12	10	10	0	1	2	1	0	0	2	2	2	2	2	1	2	3	4	1	2	3	4			TCGA-KK-A6E8-01A-11D-A31L-08	TCGA-KK-A6E8-11A-11D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ea4c81-9106-43af-b2ce-2352d6fd4978	f79ad5e5-cf51-49cb-aafb-2c6ab3448ecc	g.chrX:107938642C>G	ENST00000361603.2	+	50	5193	c.4949C>G	c.(4948-4950)gCa>gGa	p.A1650G	COL4A5_ENST00000328300.6_Missense_Mutation_p.A1656G	NM_000495.4	NP_000486.1	P29400	CO4A5_HUMAN	collagen, type IV, alpha 5	1650	Collagen IV NC1. {ECO:0000255|PROSITE- ProRule:PRU00736}.		Missing (in APSX). {ECO:0000269|PubMed:7853788}.		axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|neuromuscular junction development (GO:0007528)	basal lamina (GO:0005605)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|neuromuscular junction (GO:0031594)	extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						TTTTGGCTGGCAACTGTAGAT	0.448									Alport syndrome with Diffuse Leiomyomatosis																													ENST00000328300.6																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						c.(4966-4968)gCa>gGa		collagen, type IV, alpha 5							122	106	111					X																	107938642		2203	4300	6503	SO:0001583	missense	1287	Alport syndrome with Diffuse Leiomyomatosis	Familial Cancer Database		axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding	g.chrX:107938642C>G	M90464	CCDS14543.1, CCDS35366.1	Xq22	2014-09-17	2008-07-28		ENSG00000188153	ENSG00000188153		"Collagens"	2207	protein-coding gene	gene with protein product		303630	"Alport syndrome"	ASLN, ATS			Standard	NM_000495		Approved		uc004enz.2	P29400	OTTHUMG00000022182	ENST00000361603.2:c.4949C>G	X.37:g.107938642C>G	ENSP00000354505:p.Ala1650Gly					COL4A5_ENST00000361603.2_Missense_Mutation_p.A1650G	p.A1656G	NM_033380.2	NP_203699.1	P29400	CO4A5_HUMAN			52	5211	+			1650		Missing (in APSX).	Collagen IV NC1.		Q16006|Q16126|Q6LD84|Q7Z700|Q9NUB7	Missense_Mutation	SNP	ENST00000361603.2	37	c.4967C>G	CCDS14543.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.366563	0.82463	.	.	ENSG00000188153	ENST00000328300;ENST00000361603;ENST00000508186	D;D	0.94576	-3.46;-3.46	5.44	5.44	0.79542	C-type lectin fold (1);	0.058040	0.64402	D	0.000002	D	0.97241	0.9098	M	0.80422	2.495	0.58432	D	0.999999	P;P	0.44578	0.838;0.838	P;P	0.62813	0.907;0.907	D	0.97752	1.0215	10	0.72032	D	0.01	.	18.3768	0.90438	0.0:1.0:0.0:0.0	.	1653;1650	E7EVY4;P29400	.;CO4A5_HUMAN	G	1656;1650;1656	ENSP00000331902:A1656G;ENSP00000354505:A1650G	ENSP00000331902:A1656G	A	+	2	0	COL4A5	107825298	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.056000	0.71111	2.280000	0.76307	0.600000	0.82982	GCA		0.448	COL4A5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057880.2			38	4	0	0	0	1	0	38	4					G	107938642	C	G	107938642	3	3	319	1	0	0	0	0	1	0	0	0	3694	710	25	5	5158	5	COL4A5	23	107938642	Missense_Mutation	SNP	C	TCGA-KK-A6E8-01A-11D-A31L-08	62995873	107938642	47331918	59	16399											
PIK3CD	5293	broad.mit.edu	37	chr1	9777159	9777159	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caaaccacctcccattcctgCgaagaaggtgagatggcgcc	11	6	10	14	2	0	2	0	1	0	2	2	4	2	2	5	2	2	0	5	2	3	1			TCGA-KK-A7AP-01A-12D-A33T-08	TCGA-KK-A7AP-11A-21D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c45a477-5a37-40de-a023-e282662b95d5	a1af817f-0d34-41c4-95e5-d61b174e3c6a	g.chr1:9777159C>T	ENST00000377346.4	+	7	1118	c.923C>T	c.(922-924)gCg>gTg	p.A308V	PIK3CD_ENST00000361110.2_Missense_Mutation_p.A273V|PIK3CD_ENST00000543390.1_5'Flank|PIK3CD_ENST00000536656.1_Missense_Mutation_p.A273V	NM_005026.3	NP_005017.3	O00329	PK3CD_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta	308					adaptive immune response (GO:0002250)|B cell activation (GO:0042113)|B cell chemotaxis (GO:0035754)|B cell homeostasis (GO:0001782)|B cell receptor signaling pathway (GO:0050853)|cytokine production (GO:0001816)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|mast cell chemotaxis (GO:0002551)|mast cell degranulation (GO:0043303)|mast cell differentiation (GO:0060374)|natural killer cell activation (GO:0030101)|natural killer cell chemotaxis (GO:0035747)|natural killer cell differentiation (GO:0001779)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil chemotaxis (GO:0030593)|neutrophil extravasation (GO:0072672)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|protein phosphorylation (GO:0006468)|respiratory burst involved in defense response (GO:0002679)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|T cell activation (GO:0042110)|T cell chemotaxis (GO:0010818)|T cell differentiation (GO:0030217)|T cell receptor signaling pathway (GO:0050852)	cytosol (GO:0005829)|mast cell granule (GO:0042629)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)			central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(12)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31	all_lung(157;0.222)	all_lung(118;2.44e-05)|Lung NSC(185;4.08e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0231)|Colorectal(212;7.52e-08)|COAD - Colon adenocarcinoma(227;1.78e-05)|Kidney(185;0.000322)|KIRC - Kidney renal clear cell carcinoma(229;0.00114)|BRCA - Breast invasive adenocarcinoma(304;0.0021)|STAD - Stomach adenocarcinoma(132;0.00395)|READ - Rectum adenocarcinoma(331;0.0419)	Caffeine(DB00201)	CCCATTCCTGCGAAGAAGGTG	0.632																																						ENST00000536656.1																			0				central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(12)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31						c.(817-819)gCg>gTg		phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta							114	104	107					1																	9777159		2203	4300	6503	SO:0001583	missense	5293				phosphatidylinositol-mediated signaling|protein phosphorylation	phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding	g.chr1:9777159C>T		CCDS104.1	1p36.2	2014-09-17	2012-07-13		ENSG00000171608	ENSG00000171608	2.7.1.153		8977	protein-coding gene	gene with protein product	"phosphatidylinositol 3-kinase, catalytic, delta polypeptide", "phosphoinositide-3-kinase C"	602839	"phosphoinositide-3-kinase, catalytic, delta polypeptide"			9113989, 9455486	Standard	NM_005026		Approved	p110D	uc001aqb.4	O00329	OTTHUMG00000001450	ENST00000377346.4:c.923C>T	1.37:g.9777159C>T	ENSP00000366563:p.Ala308Val					PIK3CD_ENST00000377346.4_Missense_Mutation_p.A308V|PIK3CD_ENST00000361110.2_Missense_Mutation_p.A273V	p.A273V			O00329	PK3CD_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0231)|Colorectal(212;7.52e-08)|COAD - Colon adenocarcinoma(227;1.78e-05)|Kidney(185;0.000322)|KIRC - Kidney renal clear cell carcinoma(229;0.00114)|BRCA - Breast invasive adenocarcinoma(304;0.0021)|STAD - Stomach adenocarcinoma(132;0.00395)|READ - Rectum adenocarcinoma(331;0.0419)	7	1026	+	all_lung(157;0.222)	all_lung(118;2.44e-05)|Lung NSC(185;4.08e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)	308					A6NCG0|G1FFP1|O15445|Q5SR49	Missense_Mutation	SNP	ENST00000377346.4	37	c.818C>T	CCDS104.1	.	.	.	.	.	.	.	.	.	.	C	8.475	0.858504	0.17178	.	.	ENSG00000171608	ENST00000536656;ENST00000377346;ENST00000361110;ENST00000360563	T;T;T	0.67523	-0.27;-0.27;-0.27	4.97	0.675	0.17952	.	.	.	.	.	T	0.34774	0.0909	N	0.03608	-0.345	0.80722	D	1	B;B;B	0.09022	0.0;0.002;0.002	B;B;B	0.04013	0.001;0.001;0.001	T	0.03514	-1.1029	9	0.21540	T	0.41	-1.1165	4.2323	0.10610	0.2009:0.396:0.0:0.4031	.	308;273;308	B7ZM44;Q5SR50;O00329	.;.;PK3CD_HUMAN	V	273;308;273;273	ENSP00000446444:A273V;ENSP00000366563:A308V;ENSP00000354410:A273V	ENSP00000353766:A273V	A	+	2	0	PIK3CD	9699746	0.977000	0.34250	0.024000	0.17045	0.006000	0.05464	2.028000	0.41088	-0.143000	0.11334	-0.339000	0.08088	GCG		0.632	PIK3CD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004235.1	NM_005026		4	46	0	0	0	1	0	4	46					T	9777159	C	T	9777159	3	4	320	1	0	0	0	0	1	0	0	0	11915	768	27	1	941	1	PIK3CD	1	9777159	Missense_Mutation	SNP	C	TCGA-KK-A7AP-01A-12D-A33T-08		9777159	239473462	1	16400											
YBX1	4904	broad.mit.edu	37	chr1	43162406	43162406	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accattatagacgctatccaCgtcgtaggggtcctccacgc	9	9	9	14	4	0	1	0	0	0	1	4	1	3	1	4	2	0	2	4	2	4	4			TCGA-KK-A7AP-01A-12D-A33T-08	TCGA-KK-A7AP-11A-21D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c45a477-5a37-40de-a023-e282662b95d5	a1af817f-0d34-41c4-95e5-d61b174e3c6a	g.chr1:43162406C>T	ENST00000321358.7	+	5	587	c.448C>T	c.(448-450)Cgt>Tgt	p.R150C	YBX1_ENST00000467957.1_3'UTR	NM_004559.3	NP_004550.2	P67809	YBOX1_HUMAN	Y box binding protein 1	150					CRD-mediated mRNA stabilization (GO:0070934)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of striated muscle cell differentiation (GO:0051154)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell division (GO:0051781)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription from RNA polymerase II promoter (GO:0006366)	CRD-mediated mRNA stability complex (GO:0070937)|cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|extracellular vesicular exosome (GO:0070062)|histone pre-mRNA 3'end processing complex (GO:0071204)|intracellular membrane-bounded organelle (GO:0043231)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|U12-type spliceosomal complex (GO:0005689)	DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)			large_intestine(2)|lung(4)|ovary(4)|prostate(4)|upper_aerodigestive_tract(2)	16	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				ACGCTATCCACGTCGTAGGGG	0.517																																						ENST00000321358.7																			0				large_intestine(2)|lung(4)|ovary(4)|prostate(4)|upper_aerodigestive_tract(2)	16						c.(448-450)Cgt>Tgt		Y box binding protein 1							75	77	76					1																	43162406		2203	4300	6503	SO:0001583	missense	4904				CRD-mediated mRNA stabilization|negative regulation of transcription, DNA-dependent|nuclear mRNA splicing, via spliceosome|positive regulation of cell division|transcription from RNA polymerase II promoter	CRD-mediated mRNA stability complex|extracellular region|histone pre-mRNA 3'end processing complex|nucleoplasm|stress granule|U12-type spliceosomal complex	double-stranded DNA binding|protein binding|RNA binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding	g.chr1:43162406C>T	BC013838	CCDS470.1	1p34	2008-02-05	2005-08-11	2005-08-11	ENSG00000065978	ENSG00000065978			8014	protein-coding gene	gene with protein product		154030	"nuclease sensitive element binding protein 1"	NSEP1		1891370, 3174636	Standard	NM_004559		Approved	YB-1, YB1, DBPB, NSEP-1, MDR-NF1, BP-8, CSDB, CSDA2	uc001chs.3	P67809	OTTHUMG00000007523	ENST00000321358.7:c.448C>T	1.37:g.43162406C>T	ENSP00000361626:p.Arg150Cys					YBX1_ENST00000467957.1_3'UTR	p.R150C	NM_004559.3	NP_004550.2	P67809	YBOX1_HUMAN			5	587	+	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)	150					P16990|P16991|Q14972|Q15325|Q5FVF0	Missense_Mutation	SNP	ENST00000321358.7	37	c.448C>T	CCDS470.1	.	.	.	.	.	.	.	.	.	.	C	17.04	3.287210	0.59867	.	.	ENSG00000065978	ENST00000321358;ENST00000332220;ENST00000318612	T;T	0.39229	1.09;1.12	5.24	5.24	0.73138	.	0.344925	0.38164	N	0.001798	T	0.62332	0.2419	M	0.67397	2.05	0.80722	D	1	D	0.89917	1.0	D	0.71414	0.973	T	0.61446	-0.7061	10	0.45353	T	0.12	-1.9726	16.6713	0.85267	0.0:1.0:0.0:0.0	.	150	P67809	YBOX1_HUMAN	C	150;120;146	ENSP00000361626:R150C;ENSP00000405937:R120C	ENSP00000361621:R146C	R	+	1	0	YBX1	42934993	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.256000	0.78350	2.600000	0.87896	0.563000	0.77884	CGT		0.517	YBX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019786.2	NM_004559		30	30	0	0	0	1	0	30	30					T	43162406	C	T	43162406	3	4	320	1	0	0	0	0	1	0	0	0	17466	536	19	1	466	1	YBX1	1	43162406	Missense_Mutation	SNP	C	TCGA-KK-A7AP-01A-12D-A33T-08	33385247	43162406	206088215	2	16401											
SPTA1	6708	broad.mit.edu	37	chr1	158606500	158606500	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ttcttcagcaagttctgaacCccctgaagatctctcccata	10	12	5	14	0	4	3	1	2	3	1	6	3	5	3	3	0	2	2	3	0	4	4			TCGA-KK-A7AP-01A-12D-A33T-08	TCGA-KK-A7AP-11A-21D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c45a477-5a37-40de-a023-e282662b95d5	a1af817f-0d34-41c4-95e5-d61b174e3c6a	g.chr1:158606500C>A	ENST00000368147.4	-	37	5421	c.5241G>T	c.(5239-5241)ggG>ggT	p.G1747G		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	1747					actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					AGTTCTGAACCCCCTGAAGAT	0.463																																						ENST00000368148.3																			0				NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307						c.(5239-5241)ggG>ggT		spectrin, alpha, erythrocytic 1 (elliptocytosis 2)							133	129	130					1																	158606500		1865	4097	5962	SO:0001819	synonymous_variant	6708				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	g.chr1:158606500C>A	M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"EF-hand domain containing"	11272	protein-coding gene	gene with protein product	"elliptocytosis 2"	182860	"spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.5241G>T	1.37:g.158606500C>A						SPTA1_ENST00000368147.3_Silent_p.G1747G	p.G1747G	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN			37	5421	-	all_hematologic(112;0.0378)		1747					Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Silent	SNP	ENST00000368147.4	37	c.5241G>T	CCDS41423.1																																																																																				0.463	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126		24	118	1	0	3.08376e-08	1	3.58723e-08	24	118					A	158606500	C	A	158606500	2	1	320	1	0	0	0	0	0	0	0	1	15115	610	22	5		5	SPTA1	1	158606500	Silent	SNP	C	TCGA-KK-A7AP-01A-12D-A33T-08	115444094	158606500	90644121	3	16402											
ASTN1	460	broad.mit.edu	37	chr1	176927554	176927554	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggattgatggccagttcggCtggtggaatcacaaagctct	9	11	13	8	1	2	1	1	1	1	0	3	3	2	3	1	5	1	3	1	5	2	2			TCGA-KK-A7AP-01A-12D-A33T-08	TCGA-KK-A7AP-11A-21D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c45a477-5a37-40de-a023-e282662b95d5	a1af817f-0d34-41c4-95e5-d61b174e3c6a	g.chr1:176927554C>G	ENST00000367654.3	-	10	1898	c.1687G>C	c.(1687-1689)Gcc>Ccc	p.A563P	ASTN1_ENST00000367657.3_Missense_Mutation_p.A555P|ASTN1_ENST00000361833.2_Missense_Mutation_p.A555P|ASTN1_ENST00000424564.2_Missense_Mutation_p.A555P|ASTN1_ENST00000281881.3_5'UTR	NM_004319.1	NP_004310.1	O14525	ASTN1_HUMAN	astrotactin 1	563					locomotory behavior (GO:0007626)|neuron cell-cell adhesion (GO:0007158)|neuron migration (GO:0001764)	endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						GCCAGTTCGGCTGGTGGAATC	0.562																																						ENST00000367654.2																			0				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						c.(1687-1689)Gcc>Ccc		astrotactin 1							112	83	93					1																	176927554		2203	4300	6503	SO:0001583	missense	460				cell migration|neuron cell-cell adhesion	integral to membrane		g.chr1:176927554C>G	AB006627	CCDS1319.1, CCDS44280.1, CCDS65732.1	1q25.2	2008-02-05	2006-08-24	2006-08-24	ENSG00000152092	ENSG00000152092			773	protein-coding gene	gene with protein product		600904	"astrotactin"	ASTN		9070947	Standard	NM_001286164		Approved		uc001glc.3	O14525	OTTHUMG00000035041	ENST00000367654.3:c.1687G>C	1.37:g.176927554C>G	ENSP00000356626:p.Ala563Pro					ASTN1_ENST00000424564.2_Missense_Mutation_p.A555P|ASTN1_ENST00000367657.3_Missense_Mutation_p.A555P|ASTN1_ENST00000361833.2_Missense_Mutation_p.A555P|ASTN1_ENST00000281881.3_5'UTR	p.A563P			O14525	ASTN1_HUMAN			10	1700	-			563					A5PL12|B4DHI9|E9PFR8|O60799|Q5W0V7|Q5W0V8	Missense_Mutation	SNP	ENST00000367654.3	37	c.1687G>C		.	.	.	.	.	.	.	.	.	.	C	28.6	4.936322	0.92458	.	.	ENSG00000152092	ENST00000367657;ENST00000361833;ENST00000367654;ENST00000424564;ENST00000541808	T;T;T;T	0.15834	2.39;2.8;2.8;2.39	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	T	0.25531	0.0621	N	0.14661	0.345	0.80722	D	1	D;D;D	0.67145	0.996;0.983;0.983	D;P;P	0.63877	0.919;0.773;0.773	T	0.07385	-1.0775	10	0.42905	T	0.14	-20.4613	18.9852	0.92766	0.0:1.0:0.0:0.0	.	563;555;555	O14525;O14525-2;B1AJS1	ASTN1_HUMAN;.;.	P	555;555;563;555;555	ENSP00000356629:A555P;ENSP00000354536:A555P;ENSP00000356626:A563P;ENSP00000395041:A555P	ENSP00000354536:A555P	A	-	1	0	ASTN1	175194177	1.000000	0.71417	0.910000	0.35882	0.907000	0.53573	5.851000	0.69481	2.572000	0.86782	0.655000	0.94253	GCC		0.562	ASTN1-201	KNOWN	basic	protein_coding	protein_coding		NM_004319		18	22	0	0	0	1	0	18	22					G	176927554	C	G	176927554	3	3	320	1	0	0	0	0	1	0	0	0	1064	797	28	5	2281	5	ASTN1	1	176927554	Missense_Mutation	SNP	C	TCGA-KK-A7AP-01A-12D-A33T-08	18321054	176927554	72323067	4	16403											
FAHD2B	151313	broad.mit.edu	37	chr2	97757244	97757244	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccctgctctaggaactgcGtcatcgtctttgggagtgtg	5	13	12	11	2	3	0	1	0	2	0	5	2	4	2	1	2	3	1	1	2	2	2			TCGA-KK-A7AP-01A-12D-A33T-08	TCGA-KK-A7AP-11A-21D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c45a477-5a37-40de-a023-e282662b95d5	a1af817f-0d34-41c4-95e5-d61b174e3c6a	g.chr2:97757244G>A	ENST00000414820.1	-	3	470	c.200C>T	c.(199-201)aCg>aTg	p.T67M	FAHD2B_ENST00000272610.3_Missense_Mutation_p.T67M|FAHD2B_ENST00000440566.2_Missense_Mutation_p.T67M|FAHD2B_ENST00000468548.1_Intron			Q6P2I3	FAH2B_HUMAN	fumarylacetoacetate hydrolase domain containing 2B	67							hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			kidney(5)|large_intestine(2)|lung(3)|skin(2)	12						TAGGAACTGCGTCATCGTCTT	0.607																																						ENST00000414820.1																			0				kidney(5)|large_intestine(2)|lung(3)|skin(2)	12						c.(199-201)aCg>aTg		fumarylacetoacetate hydrolase domain containing 2B							79	71	73					2																	97757244		2203	4299	6502	SO:0001583	missense	151313						hydrolase activity|metal ion binding	g.chr2:97757244G>A		CCDS2030.1	2q11.2	2012-06-29			ENSG00000144199	ENSG00000144199			25318	protein-coding gene	gene with protein product							Standard	NM_199336		Approved	DKFZp434N062	uc002sxm.3	Q6P2I3	OTTHUMG00000130533	ENST00000414820.1:c.200C>T	2.37:g.97757244G>A	ENSP00000410470:p.Thr67Met					FAHD2B_ENST00000468548.1_Intron|FAHD2B_ENST00000440566.2_Missense_Mutation_p.T67M|FAHD2B_ENST00000272610.3_Missense_Mutation_p.T67M	p.T67M			Q6P2I3	FAH2B_HUMAN			3	470	-			67					D3DXH7|Q8NDK1	Missense_Mutation	SNP	ENST00000414820.1	37	c.200C>T	CCDS2030.1	.	.	.	.	.	.	.	.	.	.	g	6.969	0.548820	0.13312	.	.	ENSG00000144199	ENST00000414820;ENST00000272610;ENST00000440566	T;T;T	0.30981	1.51;1.51;1.51	0.707	-1.21	0.09524	.	0.387001	0.25948	N	0.027278	T	0.14313	0.0346	N	0.24115	0.695	0.21527	N	0.999654	B	0.06786	0.001	B	0.04013	0.001	T	0.08868	-1.0701	10	0.41790	T	0.15	.	2.2337	0.04002	0.4088:0.3128:0.2784:0.0	.	67	Q6P2I3	FAH2B_HUMAN	M	67	ENSP00000410470:T67M;ENSP00000272610:T67M;ENSP00000444599:T67M	ENSP00000272610:T67M	T	-	2	0	FAHD2B	97120971	0.998000	0.40836	0.775000	0.31657	0.259000	0.26198	0.866000	0.27954	-0.387000	0.07809	0.162000	0.16502	ACG		0.607	FAHD2B-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339482.1	NM_199336		15	25	0	0	0	1	0	15	25					A	97757244	G	A	97757244	3	1	320	1	0	0	0	0	1	0	0	0	5374	1145	40	1	772	1	FAHD2B	2	97757244	Missense_Mutation	SNP	G	TCGA-KK-A7AP-01A-12D-A33T-08		97757244	145442129	5	16404											
MAP2	4133	broad.mit.edu	37	chr2	210561313	210561313	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agttagaaactattcctaaaGaggagaaagctgaaaaggaa	20	7	10	4	0	0	4	0	1	0	3	1	6	1	5	1	2	2	2	1	2	9	4			TCGA-KK-A7AP-01A-12D-A33T-08	TCGA-KK-A7AP-11A-21D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c45a477-5a37-40de-a023-e282662b95d5	a1af817f-0d34-41c4-95e5-d61b174e3c6a	g.chr2:210561313G>C	ENST00000360351.4	+	8	4734	c.4228G>C	c.(4228-4230)Gag>Cag	p.E1410Q	MAP2_ENST00000447185.1_Missense_Mutation_p.E1406Q|MAP2_ENST00000199940.6_Intron|MAP2_ENST00000392194.1_Intron|MAP2_ENST00000361559.4_Intron|MAP2_ENST00000475600.1_3'UTR	NM_002374.3	NP_002365.3	P11137	MTAP2_HUMAN	microtubule-associated protein 2	1410					axonogenesis (GO:0007409)|cellular response to organic substance (GO:0071310)|central nervous system neuron development (GO:0021954)|dendrite morphogenesis (GO:0048813)|microtubule bundle formation (GO:0001578)|neuron projection development (GO:0031175)	cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|neuronal cell body (GO:0043025)|nuclear periphery (GO:0034399)	dystroglycan binding (GO:0002162)|structural molecule activity (GO:0005198)			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Docetaxel(DB01248)|Estramustine(DB01196)|Paclitaxel(DB01229)	TATTCCTAAAGAGGAGAAAGC	0.383																																					Pancreas(27;423 979 28787 29963)	ENST00000360351.4																			0				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124						c.(4228-4230)Gag>Cag		microtubule-associated protein 2	Estramustine(DB01196)						67	72	70					2																	210561313		2203	4299	6502	SO:0001583	missense	4133				central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	beta-dystroglycan binding|calmodulin binding|structural molecule activity	g.chr2:210561313G>C		CCDS2384.1, CCDS2385.1, CCDS33369.1	2q34-q35	2008-05-27			ENSG00000078018	ENSG00000078018		"A-kinase anchor proteins"	6839	protein-coding gene	gene with protein product		157130				3103857, 7479905	Standard	XM_005246554		Approved	MAP2A, MAP2B, MAP2C	uc002vde.1	P11137	OTTHUMG00000132962	ENST00000360351.4:c.4228G>C	2.37:g.210561313G>C	ENSP00000353508:p.Glu1410Gln					MAP2_ENST00000475600.1_3'UTR|MAP2_ENST00000199940.6_Intron|MAP2_ENST00000447185.1_Missense_Mutation_p.E1406Q|MAP2_ENST00000392194.1_Intron|MAP2_ENST00000361559.4_Intron	p.E1410Q	NM_002374.3	NP_002365.3	P11137	MAP2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	8	4734	+		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)	1410					Q17S04|Q8IUX2|Q99975|Q99976	Missense_Mutation	SNP	ENST00000360351.4	37	c.4228G>C	CCDS2384.1	.	.	.	.	.	.	.	.	.	.	G	16.69	3.193677	0.58017	.	.	ENSG00000078018	ENST00000360351;ENST00000447185	T;T	0.25749	1.78;1.78	5.66	5.66	0.87406	MAP2/Tau projection (1);	0.000000	0.64402	D	0.000010	T	0.50205	0.1602	L	0.59436	1.845	0.42635	D	0.99339	D;D	0.89917	1.0;0.999	D;D	0.85130	0.997;0.996	T	0.38802	-0.9644	10	0.46703	T	0.11	-19.4489	19.7534	0.96277	0.0:0.0:1.0:0.0	.	1406;1410	P11137-3;P11137	.;MAP2_HUMAN	Q	1410;1406	ENSP00000353508:E1410Q;ENSP00000392164:E1406Q	ENSP00000353508:E1410Q	E	+	1	0	MAP2	210269558	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.018000	0.57174	2.673000	0.90976	0.650000	0.86243	GAG		0.383	MAP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256521.2	NM_001039538		17	38	0	0	0	1	0	17	38					C	210561313	G	C	210561313	3	2	320	1	0	0	0	0	1	0	0	0	9235	943	33	5	4246	5	MAP2	2	210561313	Missense_Mutation	SNP	G	TCGA-KK-A7AP-01A-12D-A33T-08	112804069	210561313	32638060	6	16405											
MFF	56947	broad.mit.edu	37	chr2	228197187	228197187	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagatcttgaccttattcaGtcaactccctttaaacccct	10	13	4	14	0	3	2	2	1	1	1	4	2	4	2	4	0	2	1	4	0	4	5			TCGA-KK-A7AP-01A-12D-A33T-08	TCGA-KK-A7AP-11A-21D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c45a477-5a37-40de-a023-e282662b95d5	a1af817f-0d34-41c4-95e5-d61b174e3c6a	g.chr2:228197187G>T	ENST00000353339.3	+	5	753	c.312G>T	c.(310-312)caG>caT	p.Q104H	MFF_ENST00000409616.1_Missense_Mutation_p.Q78H|MFF_ENST00000476924.1_3'UTR|MFF_ENST00000349901.7_Missense_Mutation_p.Q78H|MFF_ENST00000409565.1_Missense_Mutation_p.Q78H|MFF_ENST00000304593.9_Missense_Mutation_p.Q78H|MFF_ENST00000524634.1_5'UTR|MFF_ENST00000354503.6_Missense_Mutation_p.Q78H|MFF_ENST00000392059.1_Missense_Mutation_p.Q104H|MFF_ENST00000337110.7_Missense_Mutation_p.Q78H	NM_001277061.1	NP_001263990.1	Q9GZY8	MFF_HUMAN	mitochondrial fission factor	104					mitochondrial fission (GO:0000266)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|mitochondrial fusion (GO:0008053)|mitochondrion morphogenesis (GO:0070584)|peroxisome fission (GO:0016559)|positive regulation of mitochondrial fission (GO:0090141)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|protein homooligomerization (GO:0051260)|protein targeting to mitochondrion (GO:0006626)|regulation of mitochondrion organization (GO:0010821)|regulation of peroxisome organization (GO:1900063)|release of cytochrome c from mitochondria (GO:0001836)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|integral component of mitochondrial membrane (GO:0032592)|mitochondrial outer membrane (GO:0005741)|peroxisome (GO:0005777)|synapse (GO:0045202)	protein homodimerization activity (GO:0042803)			breast(3)|endometrium(2)|kidney(3)|large_intestine(7)|lung(4)|stomach(2)	21						ACCTTATTCAGTCAACTCCCT	0.403																																						ENST00000353339.3																			0				breast(3)|endometrium(2)|kidney(3)|large_intestine(7)|lung(4)|stomach(2)	21						c.(310-312)caG>caT		mitochondrial fission factor							199	195	196					2																	228197187		2203	4300	6503	SO:0001583	missense	56947					integral to membrane|mitochondrial outer membrane		g.chr2:228197187G>T	AF258660	CCDS2465.1, CCDS63139.1, CCDS63140.1, CCDS63141.1, CCDS63142.1, CCDS74662.1	2q36	2008-05-29	2008-05-29	2008-05-29	ENSG00000168958	ENSG00000168958			24858	protein-coding gene	gene with protein product		614785	"chromosome 2 open reading frame 33"	C2orf33		18353969	Standard	NM_001277061		Approved	GL004	uc002voy.4	Q9GZY8	OTTHUMG00000133180	ENST00000353339.3:c.312G>T	2.37:g.228197187G>T	ENSP00000302037:p.Gln104His					MFF_ENST00000304593.9_Missense_Mutation_p.Q78H|MFF_ENST00000524634.1_5'UTR|MFF_ENST00000354503.6_Missense_Mutation_p.Q78H|MFF_ENST00000409616.1_Missense_Mutation_p.Q78H|MFF_ENST00000337110.7_Missense_Mutation_p.Q78H|MFF_ENST00000409565.1_Missense_Mutation_p.Q78H|MFF_ENST00000392059.1_Missense_Mutation_p.Q104H|MFF_ENST00000349901.7_Missense_Mutation_p.Q78H|MFF_ENST00000476924.1_3'UTR	p.Q104H	NM_001277061.1	NP_001263990.1	Q9GZY8	MFF_HUMAN			5	753	+			104					Q567U1|Q658R6|Q9BVZ1|Q9H690|Q9NRG8	Missense_Mutation	SNP	ENST00000353339.3	37	c.312G>T	CCDS2465.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.147614	0.77888	.	.	ENSG00000168958	ENST00000304593;ENST00000353339;ENST00000354503;ENST00000409565;ENST00000452930;ENST00000409616;ENST00000337110;ENST00000349901;ENST00000392059	T;T	0.34275	1.37;1.37	5.27	4.39	0.52855	.	0.123816	0.64402	D	0.000018	T	0.52224	0.1721	L	0.59436	1.845	0.43531	D	0.995813	D;D;D;D;D;D	0.89917	0.989;1.0;0.994;0.989;1.0;0.999	P;D;D;P;D;D	0.91635	0.804;0.999;0.968;0.832;0.998;0.999	T	0.51458	-0.8703	10	0.51188	T	0.08	-9.3018	9.1621	0.37030	0.0739:0.0:0.7811:0.145	.	78;78;78;78;78;104	Q9GZY8-4;Q9GZY8-3;Q9GZY8-5;C9JHF5;Q9GZY8-2;Q9GZY8	.;.;.;.;.;MFF_HUMAN	H	78;104;78;78;78;78;78;78;104	ENSP00000302037:Q104H;ENSP00000375912:Q104H	ENSP00000304898:Q78H	Q	+	3	2	MFF	227905431	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.891000	0.63185	1.361000	0.45981	0.563000	0.77884	CAG		0.403	MFF-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256887.2	NM_020194		6	223	1	0	1.6384e-10	1	1.9456e-10	6	223					T	228197187	G	T	228197187	3	4	320	1	0	0	0	0	1	0	0	0	9519	1020	36	5	322	5	MFF	2	228197187	Missense_Mutation	SNP	G	TCGA-KK-A7AP-01A-12D-A33T-08	17635874	228197187	15002186	7	16406											
CDS1	1040	broad.mit.edu	37	chr4	85562063	85562063	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagtgatgtaaactccttcGtgacagaatgtgagccctca	12	10	10	9	1	1	4	1	3	0	1	3	5	2	4	2	0	2	1	2	0	4	2	rs146506985	byFrequency	TCGA-KK-A7AP-01A-12D-A33T-08	TCGA-KK-A7AP-11A-21D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c45a477-5a37-40de-a023-e282662b95d5	a1af817f-0d34-41c4-95e5-d61b174e3c6a	g.chr4:85562063G>A	ENST00000295887.5	+	10	1375	c.952G>A	c.(952-954)Gtg>Atg	p.V318M		NM_001263.3	NP_001254.2	O96017	CHK2_HUMAN	CDP-diacylglycerol synthase (phosphatidate cytidylyltransferase) 1	0	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		R -> H (in prostate cancer; somatic mutation; dbSNP:rs143611747). {ECO:0000269|PubMed:12533788}.		cellular protein catabolic process (GO:0044257)|cellular response to DNA damage stimulus (GO:0006974)|DNA damage checkpoint (GO:0000077)|DNA damage induced protein phosphorylation (GO:0006975)|double-strand break repair (GO:0006302)|G2/M transition of mitotic cell cycle (GO:0000086)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)|regulation of protein catabolic process (GO:0042176)|regulation of transcription, DNA-templated (GO:0006355)|replicative senescence (GO:0090399)|response to gamma radiation (GO:0010332)|signal transduction in response to DNA damage (GO:0042770)|signal transduction involved in intra-S DNA damage checkpoint (GO:0072428)|spindle assembly involved in mitosis (GO:0090307)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|PML body (GO:0016605)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|liver(2)|lung(5)|ovary(1)	20		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.00101)		AAACTCCTTCGTGACAGAATG	0.403													G|||	2	0.000399361	0	0	5008	,	,		13219	0.002		0	False		,,,				2504	0					ENST00000295887.5																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|liver(2)|lung(5)|ovary(1)	20						c.(952-954)Gtg>Atg		CDP-diacylglycerol synthase (phosphatidate cytidylyltransferase) 1							158	149	152					4																	85562063		2203	4300	6503	SO:0001583	missense	1040				signal transduction|visual perception	endoplasmic reticulum membrane|integral to membrane	diacylglycerol cholinephosphotransferase activity|phosphatidate cytidylyltransferase activity	g.chr4:85562063G>A	U65887	CCDS3608.1	4q21	2008-02-05			ENSG00000163624	ENSG00000163624	2.7.7.41		1800	protein-coding gene	gene with protein product		603548				9806839, 9115637	Standard	NM_001263		Approved		uc011ccv.2	Q92903	OTTHUMG00000130428	ENST00000295887.5:c.952G>A	4.37:g.85562063G>A	ENSP00000295887:p.Val318Met						p.V318M	NM_001263.3	NP_001254.2	Q92903	CDS1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.00101)	10	1375	+		Hepatocellular(203;0.114)	318					A8K3Y9|B7ZBF3|B7ZBF4|B7ZBF5|Q6QA03|Q6QA04|Q6QA05|Q6QA06|Q6QA07|Q6QA08|Q6QA10|Q6QA11|Q6QA12|Q6QA13|Q9HBS5|Q9HCQ8|Q9UGF0|Q9UGF1	Missense_Mutation	SNP	ENST00000295887.5	37	c.952G>A	CCDS3608.1	2	9.157509157509158E-4	0	0.0	0	0.0	2	0.0034965034965034965	0	0.0	G	4.348	0.064028	0.08388	.	.	ENSG00000163624	ENST00000295887	T	0.43294	0.95	5.09	4.24	0.50183	.	0.243005	0.43110	D	0.000613	T	0.17789	0.0427	N	0.02539	-0.55	0.09310	N	1	B	0.30114	0.269	B	0.26202	0.067	T	0.13255	-1.0516	10	0.33141	T	0.24	-21.7843	10.7374	0.46133	0.0:0.1428:0.7089:0.1483	.	318	Q92903	CDS1_HUMAN	M	318	ENSP00000295887:V318M	ENSP00000295887:V318M	V	+	1	0	CDS1	85781087	0.123000	0.22298	0.147000	0.22382	0.051000	0.14879	1.600000	0.36762	1.356000	0.45884	-0.176000	0.13171	GTG		0.403	CDS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252817.2			58	72	0	0	0	1	0	58	72					A	85562063	G	A	85562063	3	1	320	1	0	0	0	0	1	0	0	0	3177	1145	40	1	990	1	CDS1	4	85562063	Missense_Mutation	SNP	G	TCGA-KK-A7AP-01A-12D-A33T-08		85562063	105592213	8	16407											
FAT4	79633	broad.mit.edu	37	chr4	126319977	126319977	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatatcaatgacaatccaccAgtatttccaacggacatgct	14	10	6	11	1	1	1	1	1	0	0	3	3	3	2	3	1	2	2	3	1	5	3			TCGA-KK-A7AP-01A-12D-A33T-08	TCGA-KK-A7AP-11A-21D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c45a477-5a37-40de-a023-e282662b95d5	a1af817f-0d34-41c4-95e5-d61b174e3c6a	g.chr4:126319977A>T	ENST00000394329.3	+	2	5227	c.5214A>T	c.(5212-5214)ccA>ccT	p.P1738P	FAT4_ENST00000335110.5_Silent_p.P36P	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	1738	Cadherin 16. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						ACAATCCACCAGTATTTCCAA	0.428																																						ENST00000394329.3																			0				NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						c.(5212-5214)ccA>ccT		FAT atypical cadherin 4							188	174	179					4																	126319977		2203	4300	6503	SO:0001819	synonymous_variant	79633				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:126319977A>T	AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"Cadherins / Cadherin-related"	23109	protein-coding gene	gene with protein product	"cadherin-related family member 11"	612411	"FAT tumor suppressor homolog 4 (Drosophila)"			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.5214A>T	4.37:g.126319977A>T						FAT4_ENST00000335110.5_Silent_p.P36P	p.P1738P	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN			2	5227	+			1738			Cadherin 16.		A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Silent	SNP	ENST00000394329.3	37	c.5214A>T	CCDS3732.3																																																																																				0.428	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582		50	79	0	0	0	1	0	50	79					T	126319977	A	T	126319977	2	4	320	1	0	0	0	0	0	0	0	1	5692	175	7	5		5	FAT4	4	126319977	Silent	SNP	A	TCGA-KK-A7AP-01A-12D-A33T-08	40757914	126319977	64834299	9	16408											
DCHS2	54798	broad.mit.edu	37	chr4	155254133	155254133	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccaggatgggctgtgttcgCgtttctcgataacgactgtc	6	13	12	10	4	1	0	0	0	1	0	5	3	2	1	1	2	1	3	1	2	1	3			TCGA-KK-A7AP-01A-12D-A33T-08	TCGA-KK-A7AP-11A-21D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c45a477-5a37-40de-a023-e282662b95d5	a1af817f-0d34-41c4-95e5-d61b174e3c6a	g.chr4:155254133C>T	ENST00000357232.4	-	9	1729	c.1730G>A	c.(1729-1731)cGc>cAc	p.R577H	DCHS2_ENST00000339452.1_Missense_Mutation_p.R1076H|DCHS2_ENST00000507542.1_5'Flank	NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	577	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		GCTGTGTTCGCGTTTCTCGAT	0.577																																						ENST00000357232.3																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176						c.(1729-1731)cGc>cAc		dachsous cadherin-related 2							85	86	86					4																	155254133		2203	4300	6503	SO:0001583	missense	54798				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:155254133C>T	BC140919	CCDS3785.1, CCDS47150.1	4q32.1	2014-06-04	2013-10-04	2004-09-03		ENSG00000197410		"Cadherins / Cadherin-related"	23111	protein-coding gene	gene with protein product	"cadherin-related family member 7"	612486	"cadherin-like 27", "dachsous 2 (Drosophila)"	CDH27, PCDH23		15003449	Standard	NM_017639		Approved	CDHJ, FLJ20047, PCDHJ, CDHR7	uc003inw.2	Q6V1P9		ENST00000357232.4:c.1730G>A	4.37:g.155254133C>T	ENSP00000349768:p.Arg577His					DCHS2_ENST00000339452.1_Missense_Mutation_p.R1076H	p.R577H	NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN		LUSC - Lung squamous cell carcinoma(193;0.107)	9	1729	-	all_hematologic(180;0.208)	Renal(120;0.0854)	577			Cadherin 4.		B2RU14|E9PC11|Q4W5P9|Q6ZS61|Q9NXU8	Missense_Mutation	SNP	ENST00000357232.4	37	c.1730G>A	CCDS3785.1	.	.	.	.	.	.	.	.	.	.	C	13.76	2.333144	0.41297	.	.	ENSG00000197410	ENST00000357232;ENST00000339452;ENST00000544161	T;T	0.60424	0.19;0.19	5.43	-7.46	0.01369	Cadherin (3);	1.047490	0.07507	N	0.908239	T	0.42630	0.1211	L	0.50333	1.59	0.20074	N	0.999934	D;D	0.56746	0.961;0.977	B;B	0.40741	0.213;0.339	T	0.49781	-0.8903	10	0.38643	T	0.18	.	7.5015	0.27520	0.0:0.2379:0.2745:0.4876	.	1076;577	E9PC11;Q6V1P9	.;PCD23_HUMAN	H	577;1076;1076	ENSP00000349768:R577H;ENSP00000345062:R1076H	ENSP00000345062:R1076H	R	-	2	0	DCHS2	155473583	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.048000	0.11944	-0.784000	0.04528	-2.232000	0.00291	CGC		0.577	DCHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365281.2	NM_001142552		27	44	0	0	0	1	0	27	44					T	155254133	C	T	155254133	3	4	320	1	0	0	0	0	1	0	0	0	4288	768	27	1	7184	1	DCHS2	4	155254133	Missense_Mutation	SNP	C	TCGA-KK-A7AP-01A-12D-A33T-08	28934156	155254133	35900143	10	16409											
SPOCK3	50859	broad.mit.edu	37	chr4	167656222	167656222	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcgccactagcaaaatctccGgagatctcaaaatctatagc	14	9	6	12	2	3	1	1	0	3	1	6	2	3	1	2	1	2	1	2	1	7	3	rs143568587		TCGA-KK-A7AP-01A-12D-A33T-08	TCGA-KK-A7AP-11A-21D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c45a477-5a37-40de-a023-e282662b95d5	a1af817f-0d34-41c4-95e5-d61b174e3c6a	g.chr4:167656222G>A	ENST00000357154.3	-	12	1298	c.1161C>T	c.(1159-1161)tcC>tcT	p.S387S	SPOCK3_ENST00000512681.1_Silent_p.S289S|SPOCK3_ENST00000541637.1_Silent_p.S289S|SPOCK3_ENST00000535728.1_Silent_p.S255S|SPOCK3_ENST00000511269.1_Silent_p.S384S|SPOCK3_ENST00000541354.1_Silent_p.S267S|SPOCK3_ENST00000510741.1_Silent_p.S344S|SPOCK3_ENST00000504953.1_Silent_p.S384S|SPOCK3_ENST00000511531.1_Silent_p.S387S|SPOCK3_ENST00000502330.1_Silent_p.S387S|SPOCK3_ENST00000506886.1_Silent_p.S387S|SPOCK3_ENST00000421836.2_Silent_p.S336S|SPOCK3_ENST00000507137.1_5'UTR|SPOCK3_ENST00000357545.4_Silent_p.S384S|SPOCK3_ENST00000534949.1_Silent_p.S291S	NM_016950.2	NP_058646.2	Q9BQ16	TICN3_HUMAN	sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 3	387					negative regulation of endopeptidase activity (GO:0010951)|peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)|signal transduction (GO:0007165)	extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|glycosaminoglycan binding (GO:0005539)|metalloendopeptidase inhibitor activity (GO:0008191)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	38	all_hematologic(180;0.221)	Prostate(90;0.0181)|Renal(120;0.0184)|Melanoma(52;0.0198)		GBM - Glioblastoma multiforme(119;0.02)		caaaatcTCCGGAGATCTCAA	0.313																																						ENST00000357154.3																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	38						c.(1159-1161)tcC>tcT		sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 3		G	,,,,,,,	0,4406		0,0,2203	103	102	102		1152,1008,801,885,873,1032,1032,1161	-9.6	1	4	dbSNP_134	102	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	SPOCK3	NM_001040159.1,NM_001204352.1,NM_001204353.1,NM_001204354.1,NM_001204355.1,NM_001204356.1,NM_001204357.1,NM_016950.2	,,,,,,,	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	,,,,,,,	384/434,336/386,267/317,295/345,291/341,344/394,344/394,387/437	167656222	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	50859				signal transduction	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase inhibitor activity	g.chr4:167656222G>A	AJ001454	CCDS34095.1, CCDS54817.1, CCDS56343.1, CCDS56344.1, CCDS56346.1, CCDS56347.1, CCDS58931.1, CCDS75207.1	4q32.3	2011-10-10			ENSG00000196104	ENSG00000196104			13565	protein-coding gene	gene with protein product		607989				11751414	Standard	NM_001204352		Approved	testican-3	uc003iri.1	Q9BQ16	OTTHUMG00000161190	ENST00000357154.3:c.1161C>T	4.37:g.167656222G>A						SPOCK3_ENST00000541354.1_Silent_p.S267S|SPOCK3_ENST00000535728.1_Silent_p.S255S|SPOCK3_ENST00000502330.1_Silent_p.S387S|SPOCK3_ENST00000534949.1_Silent_p.S291S|SPOCK3_ENST00000510741.1_Silent_p.S344S|SPOCK3_ENST00000511531.1_Silent_p.S387S|SPOCK3_ENST00000357545.4_Silent_p.S384S|SPOCK3_ENST00000507137.1_5'UTR|SPOCK3_ENST00000506886.1_Silent_p.S387S|SPOCK3_ENST00000511269.1_Silent_p.S384S|SPOCK3_ENST00000504953.1_Silent_p.S384S|SPOCK3_ENST00000421836.2_Silent_p.S336S|SPOCK3_ENST00000541637.1_Silent_p.S289S|SPOCK3_ENST00000512681.1_Silent_p.S289S	p.S387S	NM_016950.2	NP_058646.2	Q9BQ16	TICN3_HUMAN		GBM - Glioblastoma multiforme(119;0.02)	12	1298	-	all_hematologic(180;0.221)	Prostate(90;0.0181)|Renal(120;0.0184)|Melanoma(52;0.0198)	387					B2R7M7|B3KR67|B4DGK5|B4DHB4|B4DHV3|B4DI46|B4DJY3|E7EP61|F5H099|O75705|Q6UW53|Q96Q26	Silent	SNP	ENST00000357154.3	37	c.1161C>T	CCDS54817.1																																																																																				0.313	SPOCK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364091.1			36	37	0	0	0	1	0	36	37					A	167656222	G	A	167656222	2	1	320	1	0	0	0	0	0	0	0	1	15080	1103	39	2		2	SPOCK3	4	167656222	Silent	SNP	G	TCGA-KK-A7AP-01A-12D-A33T-08	12402089	167656222	23498054	11	16410											
HAPLN1	1404	broad.mit.edu	37	chr5	82937463	82937463	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgccatccgccaaccagcccGcatcacagcggtcatatccg	9	6	8	18	4	2	0	2	0	0	0	4	0	4	0	6	1	4	1	6	1	2	1			TCGA-KK-A7AP-01A-12D-A33T-08	TCGA-KK-A7AP-11A-21D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c45a477-5a37-40de-a023-e282662b95d5	a1af817f-0d34-41c4-95e5-d61b174e3c6a	g.chr5:82937463G>A	ENST00000274341.4	-	5	1767	c.917C>T	c.(916-918)gCg>gTg	p.A306V		NM_001884.3	NP_001875.1	P10915	HPLN1_HUMAN	hyaluronan and proteoglycan link protein 1	306	Link 2. {ECO:0000255|PROSITE- ProRule:PRU00323}.				cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	hyaluronic acid binding (GO:0005540)			breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|liver(1)|lung(15)|ovary(1)|prostate(1)|skin(1)	34		Lung NSC(167;0.0484)|all_lung(232;0.0522)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;7.82e-42)|Epithelial(54;5.88e-35)|all cancers(79;1.14e-29)	Hyaluronan(DB08818)	CAACCAGCCCGCATCACAGCG	0.557																																						ENST00000274341.4																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|liver(1)|lung(15)|ovary(1)|prostate(1)|skin(1)	34						c.(916-918)gCg>gTg		hyaluronan and proteoglycan link protein 1							117	121	119					5																	82937463		2203	4300	6503	SO:0001583	missense	1404				cell adhesion	proteinaceous extracellular matrix	hyaluronic acid binding	g.chr5:82937463G>A		CCDS4061.1	5q14.3	2013-01-11	2004-03-16	2004-03-17	ENSG00000145681	ENSG00000145681		"Immunoglobulin superfamily / V-set domain containing"	2380	protein-coding gene	gene with protein product	"Cartilage link protein", "hyaluronan and proteoglycan link protein 1"	115435	"cartilage linking protein 1"	CRTL1		2286376, 2320422	Standard	NM_001884		Approved		uc003kin.3	P10915	OTTHUMG00000119045	ENST00000274341.4:c.917C>T	5.37:g.82937463G>A	ENSP00000274341:p.Ala306Val						p.A306V	NM_001884.3	NP_001875.1	P10915	HPLN1_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;7.82e-42)|Epithelial(54;5.88e-35)|all cancers(79;1.14e-29)	5	1767	-		Lung NSC(167;0.0484)|all_lung(232;0.0522)|Ovarian(174;0.142)	306			Link 2.		B2R9A9	Missense_Mutation	SNP	ENST00000274341.4	37	c.917C>T	CCDS4061.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.108966	0.77096	.	.	ENSG00000145681	ENST00000274341	T	0.33865	1.39	5.22	5.22	0.72569	C-type lectin fold (1);Link (4);C-type lectin-like (1);	0.048877	0.85682	D	0.000000	T	0.60741	0.2292	M	0.80422	2.495	0.80722	D	1	D	0.71674	0.998	D	0.68483	0.958	T	0.63554	-0.6611	10	0.52906	T	0.07	.	14.7356	0.69414	0.0:0.1443:0.8557:0.0	.	306	P10915	HPLN1_HUMAN	V	306	ENSP00000274341:A306V	ENSP00000274341:A306V	A	-	2	0	HAPLN1	82973219	1.000000	0.71417	0.972000	0.41901	0.938000	0.57974	7.826000	0.86716	2.581000	0.87130	0.655000	0.94253	GCG		0.557	HAPLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239256.2	NM_001884		5	213	0	0	0	1	0	5	213					A	82937463	G	A	82937463	3	1	320	1	0	0	0	0	1	0	0	0	6954	1087	38	1	151	1	HAPLN1	5	82937463	Missense_Mutation	SNP	G	TCGA-KK-A7AP-01A-12D-A33T-08		82937463	97977797	12	16411											
SLC34A1	6569	broad.mit.edu	37	chr5	176814873	176814873	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggacaggactgacttccggCggtgaggggggctgggggtt	5	7	22	7	2	0	2	0	2	0	0	1	4	1	4	1	9	0	2	1	9	0	2	rs577273266		TCGA-KK-A7AP-01A-12D-A33T-08	TCGA-KK-A7AP-11A-21D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c45a477-5a37-40de-a023-e282662b95d5	a1af817f-0d34-41c4-95e5-d61b174e3c6a	g.chr5:176814873C>T	ENST00000324417.5	+	6	734	c.643C>T	c.(643-645)Cgg>Tgg	p.R215W	SLC34A1_ENST00000512593.1_Splice_Site_p.R215W	NM_003052.4	NP_003043.3	Q06495	NPT2A_HUMAN	solute carrier family 34 (type II sodium/phosphate contransporter), member 1	215					arsenate ion transmembrane transport (GO:1901684)|bone remodeling (GO:0046849)|cellular response to metal ion (GO:0071248)|cellular response to parathyroid hormone stimulus (GO:0071374)|cellular response to staurosporine (GO:0072734)|dentinogenesis (GO:0097187)|gentamycin metabolic process (GO:1901128)|glycoprotein metabolic process (GO:0009100)|indole metabolic process (GO:0042431)|ion transport (GO:0006811)|kidney development (GO:0001822)|ossification (GO:0001503)|phosphate ion homeostasis (GO:0055062)|phosphate ion transport (GO:0006817)|positive regulation of membrane potential (GO:0045838)|positive regulation of phosphate transmembrane transport (GO:2000187)|positive regulation of sodium-dependent phosphate transport (GO:2000120)|protein homooligomerization (GO:0051260)|response to cadmium ion (GO:0046686)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to growth hormone (GO:0060416)|response to lead ion (GO:0010288)|response to magnesium ion (GO:0032026)|response to mercury ion (GO:0046689)|response to potassium ion (GO:0035864)|response to thyroid hormone (GO:0097066)|response to vitamin A (GO:0033189)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|tricarboxylic acid metabolic process (GO:0072350)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|cell surface (GO:0009986)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|membrane-bounded vesicle (GO:0031988)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	sodium-dependent phosphate transmembrane transporter activity (GO:0015321)|symporter activity (GO:0015293)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TGACTTCCGGCGGTGAGGGGG	0.667													C|||	1	0.000199681	8e-04	0	5008	,	,		8938	0		0	False		,,,				2504	0					ENST00000324417.5																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24						c.e6+1		solute carrier family 34 (type II sodium/phosphate contransporter), member 1							27	26	26					5																	176814873		2202	4300	6502	SO:0001630	splice_region_variant	6569				phosphate ion homeostasis|response to cadmium ion|response to lead ion|response to mercury ion|sodium ion transport	brush border membrane|integral to plasma membrane	protein binding|sodium-dependent phosphate transmembrane transporter activity|symporter activity	g.chr5:176814873C>T	L13258	CCDS4418.1, CCDS54953.1	5q35.3	2013-07-17	2013-07-17		ENSG00000131183	ENSG00000131183		"Solute carriers"	11019	protein-coding gene	gene with protein product	"sodium/phosphate co-transporter", "solute carrier family 17 (sodium phosphate), member 2", "Na+-phosphate cotransporter type II"	182309	"solute carrier family 34 (sodium phosphate), member 1"	NPT2, SLC17A2		8327470, 8693007	Standard	NM_003052		Approved	NAPI-3, NPTIIa, SLC11	uc003mgk.4	Q06495	OTTHUMG00000130857	ENST00000324417.5:c.644+1C>T	5.37:g.176814873C>T						SLC34A1_ENST00000512593.1_Splice_Site_p.R215_splice	p.R215_splice	NM_003052.4	NP_003043.3	Q06495	NPT2A_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		6	734	+	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	215					B4DPE3	Splice_Site	SNP	ENST00000324417.5	37	c.644_splice	CCDS4418.1	.	.	.	.	.	.	.	.	.	.	C	18.49	3.635969	0.67130	.	.	ENSG00000131183	ENST00000512593;ENST00000324417	D;D	0.86497	-2.13;-2.13	5.13	2.08	0.27032	.	0.057897	0.64402	D	0.000003	D	0.94732	0.8300	H	0.96489	3.83	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.94864	0.8024	10	0.87932	D	0	-10.6021	10.8652	0.46851	0.3163:0.5851:0.0986:0.0	.	215	Q06495	NPT2A_HUMAN	W	215	ENSP00000423022:R215W;ENSP00000321424:R215W	ENSP00000321424:R215W	R	+	1	2	SLC34A1	176747479	0.122000	0.22280	1.000000	0.80357	0.982000	0.71751	0.553000	0.23391	1.134000	0.42165	0.555000	0.69702	CGG		0.667	SLC34A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253431.1	NM_003052	Missense_Mutation	14	22	0	0	0	1	0	14	22					T	176814873	C	T	176814873	5	4	320	1	0	0	0	0	0	0	1	0	14567	782	27	1	661	1	SLC34A1	5	176814873	Splice_Site	SNP	C	TCGA-KK-A7AP-01A-12D-A33T-08	93877410	176814873	4100387	13	16412											
GPR126	57211	broad.mit.edu	37	chr6	142630689	142630689	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctttctttgcaggatgtttcGctcagatcgaatgtggagct	7	15	11	8	2	2	1	1	0	1	1	4	4	2	3	0	2	2	4	0	2	1	3			TCGA-KK-A7AP-01A-12D-A33T-08	TCGA-KK-A7AP-11A-21D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c45a477-5a37-40de-a023-e282662b95d5	a1af817f-0d34-41c4-95e5-d61b174e3c6a	g.chr6:142630689G>A	ENST00000230173.6	+	2	487	c.11G>A	c.(10-12)cGc>cAc	p.R4H	GPR126_ENST00000545477.1_3'UTR|GPR126_ENST00000296932.8_Missense_Mutation_p.R4H|GPR126_ENST00000367608.2_Missense_Mutation_p.R4H|GPR126_ENST00000367609.3_Missense_Mutation_p.R4H	NM_020455.5	NP_065188	Q86SQ4	GP126_HUMAN	G protein-coupled receptor 126	4					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			cervix(1)|endometrium(1)|kidney(3)|large_intestine(12)|lung(10)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36	Breast(32;0.176)			OV - Ovarian serous cystadenocarcinoma(155;9.33e-06)|GBM - Glioblastoma multiforme(68;0.00121)		AGGATGTTTCGCTCAGATCGA	0.393																																						ENST00000230173.6																			0				cervix(1)|endometrium(1)|kidney(3)|large_intestine(12)|lung(10)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36						c.(10-12)cGc>cAc		G protein-coupled receptor 126							87	82	84					6																	142630689		1879	4101	5980	SO:0001583	missense	0				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr6:142630689G>A	AK027843	CCDS47489.1, CCDS47490.1, CCDS47491.1, CCDS55064.1	6q23.1-q24.3	2014-08-08			ENSG00000112414	ENSG00000112414		"-", "GPCR / Class B : Orphans"	13841	protein-coding gene	gene with protein product		612243				12565841	Standard	NM_001032395		Approved	FLJ14937	uc010khe.3	Q86SQ4	OTTHUMG00000015709	ENST00000230173.6:c.11G>A	6.37:g.142630689G>A	ENSP00000230173:p.Arg4His					GPR126_ENST00000545477.1_3'UTR|GPR126_ENST00000367608.2_Missense_Mutation_p.R4H|GPR126_ENST00000367609.3_Missense_Mutation_p.R4H|GPR126_ENST00000296932.8_Missense_Mutation_p.R4H	p.R4H	NM_020455.5	NP_065188.4	Q86SQ4	GP126_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;9.33e-06)|GBM - Glioblastoma multiforme(68;0.00121)	2	487	+	Breast(32;0.176)		4					Q5TGN7|Q6DHZ4|Q6F3F5|Q6F3F6|Q6F3F7|Q6F3F8|Q6MZU7|Q8IXA4|Q8NC14|Q96JW0	Missense_Mutation	SNP	ENST00000230173.6	37	c.11G>A	CCDS47490.1	.	.	.	.	.	.	.	.	.	.	G	8.019	0.759208	0.15846	.	.	ENSG00000112414	ENST00000230173;ENST00000367608;ENST00000296932;ENST00000367609;ENST00000541199;ENST00000435011	T;T;T;T;T;T	0.25414	1.82;1.82;1.82;1.82;1.99;1.8	5.39	-3.61	0.04556	.	1.592710	0.03632	N	0.238086	T	0.02688	0.0081	N	0.08118	0	0.09310	N	1	B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0	B;B;B;B;B	0.01281	0.0;0.0;0.0;0.0;0.0	T	0.25813	-1.0121	10	0.09084	T	0.74	.	6.3983	0.21624	0.4517:0.1417:0.4066:0.0	.	4;4;4;4;3	Q86SQ4-4;Q86SQ4-3;Q86SQ4-2;Q86SQ4;F5H2L1	.;.;.;GP126_HUMAN;.	H	4;4;4;4;3;3	ENSP00000230173:R4H;ENSP00000356580:R4H;ENSP00000296932:R4H;ENSP00000356581:R4H;ENSP00000446287:R3H;ENSP00000438366:R3H	ENSP00000230173:R4H	R	+	2	0	GPR126	142672382	0.001000	0.12720	0.005000	0.12908	0.747000	0.42532	-0.179000	0.09768	-0.720000	0.04935	-0.455000	0.05494	CGC		0.393	GPR126-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000042487.2			3	6	0	0	0	1	0	3	6					A	142630689	G	A	142630689	3	1	320	1	0	0	0	0	1	0	0	0	6640	1087	38	1	17	1	GPR126	6	142630689	Missense_Mutation	SNP	G	TCGA-KK-A7AP-01A-12D-A33T-08		142630689	28484378	14	16413											
ZAN	7455	broad.mit.edu	37	chr7	100334606	100334606	+	RNA	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctctcgggtgaagagggccGccgccccgatgtgctctgga	5	7	16	13	4	2	2	0	1	2	1	3	4	2	3	4	3	1	2	4	3	1	0	rs529432579		TCGA-KK-A7AP-01A-12D-A33T-08	TCGA-KK-A7AP-11A-21D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c45a477-5a37-40de-a023-e282662b95d5	a1af817f-0d34-41c4-95e5-d61b174e3c6a	g.chr7:100334606G>A	ENST00000348028.3	+	0	593				ZAN_ENST00000349350.6_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000542585.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000427578.1_RNA			Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida (GO:0007339)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			GAAGAGGGCCGCCGCCCCGAT	0.657													G|||	1	0.000199681	0	0	5008	,	,		12132	0.001		0	False		,,,				2504	0					ENST00000542585.1																			0				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139								zonadhesin (gene/pseudogene)							7	9	9					7																	100334606		1917	3871	5788			7455				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane		g.chr7:100334606G>A	U83191		7q22.1	2013-10-10	2013-10-10		ENSG00000146839	ENSG00000146839			12857	protein-coding gene	gene with protein product		602372	"zonadhesin"			9799793, 17033959	Standard	NM_003386		Approved		uc003uwk.3	Q9Y493	OTTHUMG00000157037		7.37:g.100334606G>A						ZAN_ENST00000421100.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000546292.1_RNA		NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	STAD - Stomach adenocarcinoma(171;0.19)		0	576	+	Lung NSC(181;0.041)|all_lung(186;0.0581)							A0FKC8|D6W5W4|O00218|Q96L85|Q96L86|Q96L87|Q96L88|Q96L89|Q96L90|Q9BXN9|Q9BZ83|Q9BZ84|Q9BZ85|Q9BZ86|Q9BZ87|Q9BZ88	RNA	SNP	ENST00000348028.3	37			.	.	.	.	.	.	.	.	.	.	G	16.90	3.249341	0.59103	.	.	ENSG00000146839	ENST00000546292;ENST00000538115;ENST00000542585	T;T;T	0.02236	4.38;4.38;4.38	4.15	-8.17	0.01057	Concanavalin A-like lectin/glucanase (1);MAM domain (3);	2.294350	0.02163	N	0.058939	T	0.01222	0.0040	N	0.04959	-0.14	0.09310	N	0.999999	B;B	0.11235	0.003;0.004	B;B	0.06405	0.001;0.002	T	0.48139	-0.9061	10	0.66056	D	0.02	.	3.961	0.09410	0.2075:0.142:0.5106:0.1399	.	143;143	F5H0T8;Q9Y493	.;ZAN_HUMAN	H	143	ENSP00000445943:R143H;ENSP00000445091:R143H;ENSP00000444427:R143H	ENSP00000423579:R143H	R	+	2	0	ZAN	100172542	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.764000	0.04735	-1.396000	0.02071	-0.459000	0.05422	CGC		0.657	ZAN-006	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000347214.1	NM_003386		4	16	0	0	0	1	0	4	16					A	100334606	G	A	100334606	1	1	320	0	1	0	0	0	0	0	0	0	17510	1087	38	1		1	ZAN	7	100334606	RNA	SNP	G	TCGA-KK-A7AP-01A-12D-A33T-08		100334606	58804057	15	16414											
MUC17	140453	broad.mit.edu	37	chr7	100682272	100682272	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtatacctgtcagcaccacGccagtggccagtcctgaggc	9	7	11	14	1	1	1	1	1	0	0	2	1	2	1	5	2	2	2	5	2	2	2	rs202162190	byFrequency	TCGA-KK-A7AP-01A-12D-A33T-08	TCGA-KK-A7AP-11A-21D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c45a477-5a37-40de-a023-e282662b95d5	a1af817f-0d34-41c4-95e5-d61b174e3c6a	g.chr7:100682272G>A	ENST00000306151.4	+	3	7639	c.7575G>A	c.(7573-7575)acG>acA	p.T2525T		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	2525	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					TCAGCACCACGCCAGTGGCCA	0.478													G|||	2	0.000399361	0	0	5008	,	,		27607	0		0.002	False		,,,				2504	0					ENST00000306151.4																			0				NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343						c.(7573-7575)acG>acA		mucin 17, cell surface associated							244	264	257					7																	100682272		2203	4300	6503	SO:0001819	synonymous_variant	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100682272G>A	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"Mucins"	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.7575G>A	7.37:g.100682272G>A							p.T2525T	NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN			3	7639	+	Lung NSC(181;0.136)|all_lung(186;0.182)		2525			59 X approximate tandem repeats.|Ser-rich.		O14761|Q685J2|Q8TDH7	Silent	SNP	ENST00000306151.4	37	c.7575G>A	CCDS34711.1																																																																																				0.478	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		172	209	0	0	0	1	0	172	209					A	100682272	G	A	100682272	2	1	320	1	0	0	0	0	0	0	0	1	9974	1074	38	1		1	MUC17	7	100682272	Silent	SNP	G	TCGA-KK-A7AP-01A-12D-A33T-08	347666	100682272	58456391	16	16415											
EPPK1	83481	broad.mit.edu	37	chr8	144940884	144940884	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagttcagaagctgtgatctGtcgtctaattccttggaacc	9	13	10	9	1	3	2	1	1	2	1	5	4	4	3	2	1	2	2	2	1	3	4			TCGA-KK-A7AP-01A-12D-A33T-08	TCGA-KK-A7AP-11A-21D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c45a477-5a37-40de-a023-e282662b95d5	a1af817f-0d34-41c4-95e5-d61b174e3c6a	g.chr8:144940884G>C	ENST00000525985.1	-	2	6609	c.6538C>G	c.(6538-6540)Cag>Gag	p.Q2180E				P58107	EPIPL_HUMAN	epiplakin 1	2180						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GCTGTGATCTGTCGTCTAATT	0.537																																						ENST00000525985.1																			0				NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						c.(6538-6540)Cag>Gag		epiplakin 1							252	262	259					8																	144940884		2082	4210	6292	SO:0001583	missense	83481					cytoplasm|cytoskeleton	protein binding|structural molecule activity	g.chr8:144940884G>C	AB051895	CCDS75800.1	8q24.3	2014-09-17				ENSG00000261150			15577	protein-coding gene	gene with protein product	"epidermal autoantigen 450K"	607553				11278896, 15671067	Standard	NM_031308		Approved	EPIPL1	uc003zaa.1	P58107		ENST00000525985.1:c.6538C>G	8.37:g.144940884G>C	ENSP00000436337:p.Gln2180Glu						p.Q2180E			P58107	EPIPL_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		2	6609	-	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		2180					Q76E58|Q9NSU9	Missense_Mutation	SNP	ENST00000525985.1	37	c.6538C>G		.	.	.	.	.	.	.	.	.	.	G	10.63	1.404833	0.25378	.	.	ENSG00000227184	ENST00000525985	T	0.67523	-0.27	4.66	1.68	0.24146	.	.	.	.	.	T	0.55955	0.1953	L	0.43923	1.385	0.09310	N	1	B	0.28439	0.212	B	0.32465	0.146	T	0.39143	-0.9628	9	0.10111	T	0.7	.	11.3764	0.49730	0.0:0.0:0.528:0.472	.	2180	E9PPU0	.	E	2180	ENSP00000436337:Q2180E	ENSP00000436337:Q2180E	Q	-	1	0	EPPK1	145012872	0.233000	0.23772	0.000000	0.03702	0.002000	0.02628	0.576000	0.23744	0.145000	0.18977	0.585000	0.79938	CAG		0.537	EPPK1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000382675.1	NM_031308		93	262	0	0	0	1	0	93	262					C	144940884	G	C	144940884	3	2	320	1	0	0	0	0	1	0	0	0	5190	1386	48	5	728	5	EPPK1	8	144940884	Missense_Mutation	SNP	G	TCGA-KK-A7AP-01A-12D-A33T-08		144940884	1423138	17	16416											
PLEC	5339	broad.mit.edu	37	chr8	144990642	144990642	+	Silent	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tccaccatgctgcggtccagCgcgtccttataggagatctt	7	11	10	13	3	1	1	0	0	1	1	4	2	4	1	4	2	3	1	4	2	2	3	rs368660987		TCGA-KK-A7AP-01A-12D-A33T-08	TCGA-KK-A7AP-11A-21D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c45a477-5a37-40de-a023-e282662b95d5	a1af817f-0d34-41c4-95e5-d61b174e3c6a	g.chr8:144990642C>G	ENST00000322810.4	-	32	13927	c.13758G>C	c.(13756-13758)gcG>gcC	p.A4586A	PLEC_ENST00000357649.2_Silent_p.A4453A|PLEC_ENST00000354958.2_Silent_p.A4427A|PLEC_ENST00000345136.3_Silent_p.A4449A|PLEC_ENST00000527096.1_Silent_p.A4472A|PLEC_ENST00000356346.3_Silent_p.A4435A|PLEC_ENST00000398774.2_Silent_p.A4417A|PLEC_ENST00000354589.3_Silent_p.A4449A|PLEC_ENST00000436759.2_Silent_p.A4476A	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	4586	Globular 2.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						TGCGGTCCAGCGCGTCCTTAT	0.657																																						ENST00000322810.4																			0				NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						c.(13756-13758)gcG>gcC		plectin							84	91	89					8																	144990642		2050	4198	6248	SO:0001819	synonymous_variant	5339				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle	g.chr8:144990642C>G	U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"plectin 1, intermediate filament binding protein, 500kD", "epidermolysis bullosa simplex 1 (Ogna)", "plectin 1, intermediate filament binding protein 500kDa"	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.13758G>C	8.37:g.144990642C>G						PLEC_ENST00000357649.2_Silent_p.A4453A|PLEC_ENST00000398774.2_Silent_p.A4417A|PLEC_ENST00000527096.1_Silent_p.A4472A|PLEC_ENST00000436759.2_Silent_p.A4476A|PLEC_ENST00000345136.3_Silent_p.A4449A|PLEC_ENST00000356346.3_Silent_p.A4435A|PLEC_ENST00000354589.3_Silent_p.A4449A|PLEC_ENST00000354958.2_Silent_p.A4427A	p.A4586A	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN			32	13927	-			4586			Globular 2.		Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Silent	SNP	ENST00000322810.4	37	c.13758G>C	CCDS43772.1																																																																																				0.657	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	NM_000445		4	246	0	0	0	1	0	4	246					G	144990642	C	G	144990642	2	3	320	1	0	0	0	0	0	0	0	1	12052	755	27	5		5	PLEC	8	144990642	Silent	SNP	C	TCGA-KK-A7AP-01A-12D-A33T-08	49758	144990642	1373380	18	16417											
PAEP	5047	broad.mit.edu	37	chr9	138457640	138457640	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcctcccacagagccgtgccGtttctaggtgagctcctgcc	5	10	10	16	2	1	2	0	1	1	1	4	2	4	2	6	1	4	2	6	1	1	2	rs143616209|rs537242473	byFrequency	TCGA-KK-A7AP-01A-12D-A33T-08	TCGA-KK-A7AP-11A-21D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c45a477-5a37-40de-a023-e282662b95d5	a1af817f-0d34-41c4-95e5-d61b174e3c6a	g.chr9:138457640G>A	ENST00000479141.1	+	6	580	c.536G>A	c.(535-537)cGt>cAt	p.R179H	PAEP_ENST00000277508.5_Missense_Mutation_p.R179H|PAEP_ENST00000371766.2_Missense_Mutation_p.R179H	NM_002571.2	NP_002562.2	P09466	PAEP_HUMAN	progestagen-associated endometrial protein	179					multicellular organismal development (GO:0007275)|transport (GO:0006810)	extracellular region (GO:0005576)	small molecule binding (GO:0036094)			cervix(1)|endometrium(1)|lung(1)|prostate(1)|skin(1)|stomach(1)	6				OV - Ovarian serous cystadenocarcinoma(145;3.39e-07)|Epithelial(140;1.11e-06)|all cancers(34;2.04e-05)		GAGCCGTGCCGTTTCTAGGTG	0.617													.|||	4	0.000798722	0	0	5008	,	,		18967	0.001		0.003	False		,,,				2504	0					ENST00000479141.1																			0				cervix(1)|endometrium(1)|lung(1)|prostate(1)|skin(1)|stomach(1)	6						c.(535-537)cGt>cAt		progestagen-associated endometrial protein		G	HIS/ARG,HIS/ARG	7,4399	12.9+/-30.5	0,7,2196	172	172	172		536,536	-1.9	0	9	dbSNP_134	172	36,8564	24.6+/-71.5	0,36,4264	yes	missense,missense	PAEP	NM_001018049.1,NM_002571.2	29,29	0,43,6460	AA,AG,GG		0.4186,0.1589,0.3306	benign,benign	179/181,179/181	138457640	43,12963	2203	4300	6503	SO:0001583	missense	5047				multicellular organismal development	extracellular region	binding|transporter activity	g.chr9:138457640G>A		CCDS35173.1	9q34	2011-11-15	2008-07-31		ENSG00000122133	ENSG00000122133		"Lipocalins"	8573	protein-coding gene	gene with protein product	"glycodelin-A", "glycodelin-S", "glycodelin-F", "progesterone-associated endometrial protein", "glycodelin", "PP14 protein (placental protein 14)", "pregnancy-associated endometrial alpha-2-globulin", "alpha uterine protein"	173310				3320533, 2016092	Standard	XM_005263405		Approved	PEP, PP14, GdA, GdS, GdF, PAEG, GD, MGC138509, MGC142288	uc004cgd.1	P09466	OTTHUMG00000020914	ENST00000479141.1:c.536G>A	9.37:g.138457640G>A	ENSP00000417898:p.Arg179His					PAEP_ENST00000277508.5_Missense_Mutation_p.R179H|PAEP_ENST00000371766.2_Missense_Mutation_p.R179H	p.R179H	NM_002571.2	NP_002562.2	P09466	PAEP_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;3.39e-07)|Epithelial(140;1.11e-06)|all cancers(34;2.04e-05)	6	580	+			179					Q5T6T1|Q9UG92	Missense_Mutation	SNP	ENST00000479141.1	37	c.536G>A	CCDS35173.1	4	0.0018315018315018315	0	0.0	0	0.0	1	0.0017482517482517483	3	0.00395778364116095	G	0.193	-1.051438	0.01981	0.001589	0.004186	ENSG00000122133	ENST00000479141;ENST00000371767;ENST00000371766;ENST00000277508;ENST00000418284	T;T;T;T	0.58358	1.76;1.76;1.76;0.34	0.967	-1.93	0.07594	Calycin-like (1);Calycin (1);	.	.	.	.	T	0.29288	0.0729	L	0.34521	1.04	0.09310	N	1	B;B;B	0.28850	0.0;0.004;0.225	B;B;B	0.20184	0.0;0.0;0.028	T	0.14172	-1.0482	9	0.17369	T	0.5	.	0.7307	0.00956	0.2411:0.2017:0.3564:0.2008	.	157;142;179	P09466-2;A6XNE0;P09466	.;.;PAEP_HUMAN	H	179;144;179;179;131	ENSP00000417898:R179H;ENSP00000360831:R179H;ENSP00000277508:R179H;ENSP00000401933:R131H	ENSP00000277508:R179H	R	+	2	0	PAEP	137597461	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-1.215000	0.02985	-3.000000	0.00276	-1.857000	0.00563	CGT		0.617	PAEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055010.1	NM_001018049		5	256	0	0	0	1	0	5	256					A	138457640	G	A	138457640	3	1	320	1	0	0	0	0	1	0	0	0	11382	1145	40	1	558	1	PAEP	9	138457640	Missense_Mutation	SNP	G	TCGA-KK-A7AP-01A-12D-A33T-08		138457640	2755791	19	16418											
LCN15	389812	broad.mit.edu	37	chr9	139656738	139656738	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggggactcacatcctgggtcCggcctgggcagagcagaggt	7	6	17	11	1	1	2	1	0	0	2	3	3	3	3	3	6	1	2	3	6	0	0			TCGA-KK-A7AP-01A-12D-A33T-08	TCGA-KK-A7AP-11A-21D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c45a477-5a37-40de-a023-e282662b95d5	a1af817f-0d34-41c4-95e5-d61b174e3c6a	g.chr9:139656738C>T	ENST00000316144.5	-	5	446	c.422G>A	c.(421-423)cGg>cAg	p.R141Q	LCN15_ENST00000482511.1_5'UTR	NM_203347.1	NP_976222.1	Q6UWW0	LCN15_HUMAN	lipocalin 15	141					lipid metabolic process (GO:0006629)	extracellular region (GO:0005576)	small molecule binding (GO:0036094)|transporter activity (GO:0005215)			endometrium(1)|lung(1)	2						ATCCTGGGTCCGGCCTGGGCA	0.627																																						ENST00000316144.5																			0				endometrium(1)|lung(1)	2						c.(421-423)cGg>cAg		lipocalin 15							19	19	19					9																	139656738		2185	4293	6478	SO:0001583	missense	389812				lipid metabolic process	extracellular region	binding|transporter activity	g.chr9:139656738C>T		CCDS7006.1	9q34.3	2011-10-24			ENSG00000177984	ENSG00000177984		"Lipocalins"	33777	protein-coding gene	gene with protein product							Standard	NM_203347		Approved	UNQ2541, PRO6093	uc004cjd.3	Q6UWW0	OTTHUMG00000020943	ENST00000316144.5:c.422G>A	9.37:g.139656738C>T	ENSP00000313833:p.Arg141Gln					LCN15_ENST00000482511.1_5'UTR	p.R141Q	NM_203347.1	NP_976222.1	Q6UWW0	LCN15_HUMAN			5	446	-			141						Missense_Mutation	SNP	ENST00000316144.5	37	c.422G>A	CCDS7006.1	.	.	.	.	.	.	.	.	.	.	C	14.32	2.499340	0.44455	.	.	ENSG00000177984	ENST00000316144	T	0.37584	1.19	4.0	4.0	0.46444	Calycin-like (1);Lipocalin/cytosolic fatty-acid binding protein domain (1);Calycin (1);	0.192513	0.25143	N	0.032809	T	0.61874	0.2382	M	0.85859	2.78	0.35372	D	0.789156	D	0.89917	1.0	D	0.85130	0.997	T	0.75317	-0.3360	10	0.87932	D	0	.	11.633	0.51187	0.0:1.0:0.0:0.0	.	141	Q6UWW0	LCN15_HUMAN	Q	141	ENSP00000313833:R141Q	ENSP00000313833:R141Q	R	-	2	0	LCN15	138776559	0.997000	0.39634	0.028000	0.17463	0.062000	0.15995	2.146000	0.42216	1.794000	0.52575	0.655000	0.94253	CGG		0.627	LCN15-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055114.2	NM_203347		7	5	0	0	0	1	0	7	5					T	139656738	C	T	139656738	3	4	320	1	0	0	0	0	1	0	0	0	8683	652	23	2	140	2	LCN15	9	139656738	Missense_Mutation	SNP	C	TCGA-KK-A7AP-01A-12D-A33T-08	1199098	139656738	1556693	20	16419											
GBF1	8729	broad.mit.edu	37	chr10	104140384	104140384	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgggagatcacctgggaacGcattgactgttttctccctc	7	12	10	12	1	2	2	1	1	1	1	4	4	2	3	2	2	1	2	2	2	1	3			TCGA-KK-A7AP-01A-12D-A33T-08	TCGA-KK-A7AP-11A-21D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c45a477-5a37-40de-a023-e282662b95d5	a1af817f-0d34-41c4-95e5-d61b174e3c6a	g.chr10:104140384G>A	ENST00000369983.3	+	38	5371	c.5111G>A	c.(5110-5112)cGc>cAc	p.R1704H		NM_001199378.1|NM_001199379.1|NM_004193.2	NP_001186307.1|NP_001186308.1|NP_004184.1	Q92538	GBF1_HUMAN	golgi brefeldin A resistant guanine nucleotide exchange factor 1	1704					COPI coating of Golgi vesicle (GO:0048205)|membrane organization (GO:0061024)|positive regulation of GTPase activity (GO:0043547)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of ARF protein signal transduction (GO:0032012)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|vesicle-mediated transport (GO:0016192)|viral process (GO:0016032)	cis-Golgi network (GO:0005801)|endoplasmic reticulum lumen (GO:0005788)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisome (GO:0005777)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)	p.R1704H(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(14)|kidney(8)|large_intestine(15)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	71		Colorectal(252;0.0236)		Epithelial(162;5.16e-08)|all cancers(201;1.19e-06)		ACCTGGGAACGCATTGACTGT	0.557																																						ENST00000369983.3																			1	Substitution - Missense(1)	p.R1704H(1)	large_intestine(1)	NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(14)|kidney(8)|large_intestine(15)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	71						c.(5110-5112)cGc>cAc		golgi brefeldin A resistant guanine nucleotide exchange factor 1							256	279	271					10																	104140384		2203	4300	6503	SO:0001583	missense	8729				COPI coating of Golgi vesicle|post-Golgi vesicle-mediated transport|regulation of ARF protein signal transduction|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane	ARF guanyl-nucleotide exchange factor activity|protein binding	g.chr10:104140384G>A	D87435	CCDS7533.1	10q24	2010-02-12	2010-02-12		ENSG00000107862	ENSG00000107862			4181	protein-coding gene	gene with protein product		603698	"golgi-specific brefeldin A resistance factor 1"			9828135	Standard	NM_004193		Approved	KIAA0248, ARF1GEF	uc001kux.2	Q92538	OTTHUMG00000018955	ENST00000369983.3:c.5111G>A	10.37:g.104140384G>A	ENSP00000359000:p.Arg1704His						p.R1704H	NM_001199378.1|NM_001199379.1|NM_004193.2	NP_001186307.1|NP_001186308.1|NP_004184.1	Q92538	GBF1_HUMAN		Epithelial(162;5.16e-08)|all cancers(201;1.19e-06)	38	5371	+		Colorectal(252;0.0236)	1704					Q5VXX3|Q96CK6|Q96HZ3|Q9H473	Missense_Mutation	SNP	ENST00000369983.3	37	c.5111G>A	CCDS7533.1	.	.	.	.	.	.	.	.	.	.	G	32	5.147268	0.94603	.	.	ENSG00000107862	ENST00000369983	T	0.13778	2.56	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	T	0.37919	0.1021	M	0.64997	1.995	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.91635	0.999;0.986;0.987	T	0.00617	-1.1642	10	0.39692	T	0.17	-14.0455	20.2985	0.98592	0.0:0.0:1.0:0.0	.	1700;1700;1704	Q149P1;Q149P0;Q92538	.;.;GBF1_HUMAN	H	1704	ENSP00000359000:R1704H	ENSP00000359000:R1704H	R	+	2	0	GBF1	104130374	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	9.692000	0.98682	2.793000	0.96121	0.655000	0.94253	CGC		0.557	GBF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050051.1			5	329	0	0	0	1	0	5	329					A	104140384	G	A	104140384	3	1	320	1	0	0	0	0	1	0	0	0	6271	1087	38	1	5257	1	GBF1	10	104140384	Missense_Mutation	SNP	G	TCGA-KK-A7AP-01A-12D-A33T-08		104140384	31394363	21	16420											
SH3PXD2A	9644	broad.mit.edu	37	chr10	105372694	105372694	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtcctgtcaggaacgcccaCggcactgccattggaggcat	9	7	12	13	2	1	0	1	0	0	0	2	2	2	2	3	4	2	2	3	4	1	1	rs553552960		TCGA-KK-A7AP-01A-12D-A33T-08	TCGA-KK-A7AP-11A-21D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c45a477-5a37-40de-a023-e282662b95d5	a1af817f-0d34-41c4-95e5-d61b174e3c6a	g.chr10:105372694C>T	ENST00000369774.4	-	12	1450	c.1174G>A	c.(1174-1176)Gtg>Atg	p.V392M	RP11-416N2.4_ENST00000609691.1_RNA|SH3PXD2A_ENST00000355946.2_Missense_Mutation_p.V364M|SH3PXD2A_ENST00000427662.2_Missense_Mutation_p.V254M|SH3PXD2A_ENST00000315994.6_5'UTR|SH3PXD2A_ENST00000540321.1_Missense_Mutation_p.V259M|SH3PXD2A_ENST00000538130.1_Missense_Mutation_p.V227M			Q5TCZ1	SPD2A_HUMAN	SH3 and PX domains 2A	392					superoxide metabolic process (GO:0006801)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|podosome (GO:0002102)	phosphatidylinositol binding (GO:0035091)			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(1)|urinary_tract(1)	38		Colorectal(252;0.0815)|Breast(234;0.131)		Epithelial(162;4.09e-10)|all cancers(201;2.73e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0119)		GGAACGCCCACGGCACTGCCA	0.632													C|||	1	0.000199681	8e-04	0	5008	,	,		21002	0		0	False		,,,				2504	0					ENST00000369774.4																			0				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(1)|urinary_tract(1)	38						c.(1174-1176)Gtg>Atg		SH3 and PX domains 2A							52	47	49					10																	105372694		2203	4300	6503	SO:0001583	missense	9644				cell communication|superoxide metabolic process	cell junction|cell projection|cytoplasm|podosome	phosphatidylinositol binding|protein binding	g.chr10:105372694C>T	AB007878	CCDS31278.1	10q25.1	2006-02-13	2006-02-13	2006-02-13	ENSG00000107957	ENSG00000107957			23664	protein-coding gene	gene with protein product	"five SH3 domains"		"SH3 multiple domains 1"	SH3MD1		9687503	Standard	XM_005270297		Approved	FISH, KIAA0418	uc001kxj.1	Q5TCZ1	OTTHUMG00000018997	ENST00000369774.4:c.1174G>A	10.37:g.105372694C>T	ENSP00000358789:p.Val392Met					SH3PXD2A_ENST00000315994.6_5'UTR|SH3PXD2A_ENST00000538130.1_Missense_Mutation_p.V227M|SH3PXD2A_ENST00000427662.2_Missense_Mutation_p.V254M|SH3PXD2A_ENST00000355946.2_Missense_Mutation_p.V364M|SH3PXD2A_ENST00000540321.1_Missense_Mutation_p.V259M	p.V392M			Q5TCZ1	SPD2A_HUMAN		Epithelial(162;4.09e-10)|all cancers(201;2.73e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0119)	12	1450	-		Colorectal(252;0.0815)|Breast(234;0.131)	392					D3DR98|O43302|Q5TCZ2|Q5TDQ8	Missense_Mutation	SNP	ENST00000369774.4	37	c.1174G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	3.425|3.425	-0.117278|-0.117278	0.06838|0.06838	.|.	.|.	ENSG00000107957|ENSG00000107957	ENST00000420222|ENST00000427662;ENST00000369774;ENST00000355946;ENST00000315994;ENST00000536035;ENST00000540321;ENST00000538130	.|T;T;T;T;T	.|0.56275	.|0.53;0.54;0.54;0.69;0.47	5.67|5.67	-0.173|-0.173	0.13322|0.13322	.|.	.|0.347255	.|0.32671	.|N	.|0.005783	T|T	0.12860|0.12860	0.0312|0.0312	N|N	0.01048|0.01048	-1.04|-1.04	0.09310|0.09310	N|N	1|1	.|B;B;B;P;B	.|0.37663	.|0.008;0.033;0.338;0.604;0.004	.|B;B;B;B;B	.|0.26770	.|0.002;0.005;0.018;0.073;0.005	T|T	0.21008|0.21008	-1.0258|-1.0258	5|10	.|0.39692	.|T	.|0.17	-6.0818|-6.0818	0.7638|0.7638	0.01011|0.01011	0.1737:0.2108:0.2847:0.3309|0.1737:0.2108:0.2847:0.3309	.|.	.|392;241;254;237;364	.|Q5TCZ1;B7Z9L8;F8WCK5;B7Z3B0;Q5TCZ1-3	.|SPD2A_HUMAN;.;.;.;.	H|M	318|254;392;364;199;307;259;227	.|ENSP00000392664:V254M;ENSP00000358789:V392M;ENSP00000348215:V364M;ENSP00000443663:V259M;ENSP00000441514:V227M	.|ENSP00000318135:V199M	R|V	-|-	2|1	0|0	SH3PXD2A|SH3PXD2A	105362684|105362684	0.035000|0.035000	0.19736|0.19736	0.449000|0.449000	0.26957|0.26957	0.032000|0.032000	0.12392|0.12392	2.136000|2.136000	0.42121|0.42121	0.321000|0.321000	0.23259|0.23259	-0.311000|-0.311000	0.09066|0.09066	CGT|GTG		0.632	SH3PXD2A-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000050178.1	NM_014631		4	67	0	0	0	1	0	4	67					T	105372694	C	T	105372694	3	4	320	1	0	0	0	0	1	0	0	0	14256	536	19	1	2243	1	SH3PXD2A	10	105372694	Missense_Mutation	SNP	C	TCGA-KK-A7AP-01A-12D-A33T-08	1232310	105372694	30162053	22	16421											
C10orf137	26098	broad.mit.edu	37	chr10	127431798	127431798	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	taacattagaaatgaaattgGtgtgttttacatgaatcagg	15	14	9	3	0	1	3	1	2	0	1	1	3	1	3	0	2	2	1	0	2	6	5			TCGA-KK-A7AP-01A-12D-A33T-08	TCGA-KK-A7AP-11A-21D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c45a477-5a37-40de-a023-e282662b95d5	a1af817f-0d34-41c4-95e5-d61b174e3c6a	g.chr10:127431798G>T	ENST00000356792.4	+	18	2775	c.2543G>T	c.(2542-2544)gGt>gTt	p.G848V	RP11-383C5.7_ENST00000594025.1_RNA|C10orf137_ENST00000337623.3_Missense_Mutation_p.G814V|RP11-383C5.7_ENST00000449436.1_RNA|RP11-383C5.7_ENST00000593871.1_RNA|RP11-383C5.7_ENST00000602030.1_RNA|RP11-383C5.7_ENST00000600784.1_RNA	NM_001202438.1	NP_001189367.1	Q3B7T1	EDRF1_HUMAN		848					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(20)|ovary(8)|pancreas(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	61		all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936)				AATGAAATTGGTGTGTTTTAC	0.363																																						ENST00000337623.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(20)|ovary(8)|pancreas(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	61						c.(2440-2442)gGt>gTt		chromosome 10 open reading frame 137							116	118	117					10																	127431798		2203	4300	6503	SO:0001583	missense	26098				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	binding	g.chr10:127431798G>T																												ENST00000356792.4:c.2543G>T	10.37:g.127431798G>T	ENSP00000349244:p.Gly848Val					C10orf137_ENST00000356792.4_Missense_Mutation_p.G848V	p.G814V	NM_015608.2	NP_056423.2	Q3B7T1	EDRF1_HUMAN			17	2546	+		all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936)	848					B2RC65|Q3KR40|Q4G190|Q5VZQ4|Q8IZ74|Q9Y3W4	Missense_Mutation	SNP	ENST00000356792.4	37	c.2441G>T	CCDS55733.1	.	.	.	.	.	.	.	.	.	.	G	16.74	3.208081	0.58343	.	.	ENSG00000107938	ENST00000356792;ENST00000337623	T;T	0.74737	-0.87;-0.87	4.93	4.93	0.64822	Tetratricopeptide-like helical (1);	0.000000	0.85682	D	0.000000	D	0.84933	0.5582	M	0.64997	1.995	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;0.999	D	0.86645	0.1894	10	0.72032	D	0.01	.	18.1738	0.89754	0.0:0.0:1.0:0.0	.	848;195;814	Q3B7T1;Q5VZQ1;Q3B7T1-5	EDRF1_HUMAN;.;.	V	848;814	ENSP00000349244:G848V;ENSP00000336727:G814V	ENSP00000336727:G814V	G	+	2	0	C10orf137	127421788	1.000000	0.71417	0.503000	0.27626	0.281000	0.26958	9.347000	0.97059	2.274000	0.75844	0.637000	0.83480	GGT		0.363	C10orf137-007	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388539.1			11	28	1	0	6.40141e-05	1	7.15452e-05	11	28					T	127431798	G	T	127431798	3	4	320	1	0	0	0	0	1	0	0	0	1594	1261	44	5	2507	5	C10orf137	10	127431798	Missense_Mutation	SNP	G	TCGA-KK-A7AP-01A-12D-A33T-08	22059104	127431798	8102949	23	16422											
SERGEF	26297	broad.mit.edu	37	chr11	18026082	18026082	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgatagaacttgaccatttTctgcaaaatacaaatactta	17	13	4	7	0	1	3	0	2	1	1	1	3	1	3	1	0	4	1	1	0	8	7			TCGA-KK-A7AP-01A-12D-A33T-08	TCGA-KK-A7AP-11A-21D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c45a477-5a37-40de-a023-e282662b95d5	a1af817f-0d34-41c4-95e5-d61b174e3c6a	g.chr11:18026082T>C	ENST00000265965.5	-	4	504	c.353A>G	c.(352-354)gAa>gGa	p.E118G	RP1-59M18.2_ENST00000525523.1_RNA|SERGEF_ENST00000528200.1_Splice_Site_p.E118G|SERGEF_ENST00000532212.1_5'UTR|SERGEF_ENST00000532265.1_Splice_Site_p.E4G	NM_012139.2	NP_036271.1	Q9UGK8	SRGEF_HUMAN	secretion regulating guanine nucleotide exchange factor	118					negative regulation of protein secretion (GO:0050709)|positive regulation of Ran GTPase activity (GO:0032853)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|nucleolus (GO:0005730)|nucleus (GO:0005634)	Ran guanyl-nucleotide exchange factor activity (GO:0005087)			autonomic_ganglia(1)|central_nervous_system(1)|large_intestine(5)|lung(5)	12						TTGACCATTTTCTGCAAAATA	0.453																																						ENST00000265965.5																			0				autonomic_ganglia(1)|central_nervous_system(1)|large_intestine(5)|lung(5)	12						c.e4-1		secretion regulating guanine nucleotide exchange factor							68	55	59					11																	18026082		2200	4293	6493	SO:0001630	splice_region_variant	26297				negative regulation of protein secretion|signal transduction	cytoplasm|nucleus	protein binding|Ran guanyl-nucleotide exchange factor activity	g.chr11:18026082T>C	AJ243950	CCDS7828.1	11p14.3	2006-03-09			ENSG00000129158	ENSG00000129158			17499	protein-coding gene	gene with protein product		606051				10571079, 12459492	Standard	NM_012139		Approved	DelGEF, Gnefr	uc001mnm.3	Q9UGK8	OTTHUMG00000166420	ENST00000265965.5:c.353-1A>G	11.37:g.18026082T>C						SERGEF_ENST00000532265.1_Splice_Site_p.E4_splice|SERGEF_ENST00000532212.1_5'UTR|RP1-59M18.2_ENST00000525523.1_RNA|SERGEF_ENST00000528200.1_Splice_Site_p.E118_splice	p.E118_splice	NM_012139.2	NP_036271.1	Q9UGK8	SRGEF_HUMAN			4	504	-			118					Q9UGK9	Splice_Site	SNP	ENST00000265965.5	37	c.352_splice	CCDS7828.1	.	.	.	.	.	.	.	.	.	.	T	12.67	2.007427	0.35415	.	.	ENSG00000129158	ENST00000265965;ENST00000528200;ENST00000532265;ENST00000529728;ENST00000530613;ENST00000532389	T;T;T;T;T;T	0.81247	-1.47;-1.47;-1.47;-1.47;-1.47;-1.47	5.42	1.86	0.25419	Regulator of chromosome condensation/beta-lactamase-inhibitor protein II (2);	0.353469	0.32836	N	0.005592	T	0.72301	0.3443	L	0.58969	1.84	0.33709	D	0.615541	B;B;B;B	0.10296	0.001;0.003;0.001;0.003	B;B;B;B	0.12156	0.003;0.007;0.006;0.007	T	0.67730	-0.5595	10	0.27785	T	0.31	.	7.3811	0.26856	0.0:0.3321:0.0:0.6679	.	4;4;118;118	B4DFC0;E9PMV6;Q9UGK8-2;Q9UGK8	.;.;.;SRGEF_HUMAN	G	118;118;4;4;4;4	ENSP00000265965:E118G;ENSP00000434188:E118G;ENSP00000431314:E4G;ENSP00000437297:E4G;ENSP00000436080:E4G;ENSP00000435898:E4G	ENSP00000265965:E118G	E	-	2	0	SERGEF	17982658	0.946000	0.32159	0.999000	0.59377	0.917000	0.54804	0.575000	0.23729	0.525000	0.28522	0.533000	0.62120	GAA		0.453	SERGEF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389538.1	NM_012139	Missense_Mutation	7	9	0	0	0	1	0	7	9					C	18026082	T	C	18026082	5	2	320	1	0	0	0	0	0	0	1	0	14077	1797	62	4	1055	4	SERGEF	11	18026082	Splice_Site	SNP	T	TCGA-KK-A7AP-01A-12D-A33T-08		18026082	116980434	24	16423											
C11orf41	25758	broad.mit.edu	37	chr11	33589732	33589732	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtcccagcaacaaggccggCggtttaaacgggccaccacc	10	5	11	15	3	0	0	0	0	0	0	1	0	1	0	5	4	3	2	5	4	4	2	rs140561197		TCGA-KK-A7AP-01A-12D-A33T-08	TCGA-KK-A7AP-11A-21D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c45a477-5a37-40de-a023-e282662b95d5	a1af817f-0d34-41c4-95e5-d61b174e3c6a	g.chr11:33589732C>T	ENST00000321505.4	+	8	3478	c.3298C>T	c.(3298-3300)Cgg>Tgg	p.R1100W	KIAA1549L_ENST00000265654.5_Missense_Mutation_p.R1106W|KIAA1549L_ENST00000389726.3_Missense_Mutation_p.R1106W			Q6ZVL6	K154L_HUMAN	KIAA1549-like	1100						integral component of membrane (GO:0016021)		p.R1100R(1)|p.R1106R(1)									ACAAGGCCGGCGGTTTAAACG	0.582																																						ENST00000321505.4																			2	Substitution - coding silent(2)	p.R1100R(1)|p.R1106R(1)	kidney(2)								c.(3298-3300)Cgg>Tgg		KIAA1549-like							35	37	36					11																	33589732		1963	4134	6097	SO:0001583	missense	25758							g.chr11:33589732C>T	U10991	CCDS44565.1, CCDS44565.2	11p13	2012-08-09	2012-08-09	2012-08-09	ENSG00000110427	ENSG00000110427			24836	protein-coding gene	gene with protein product		612297	"chromosome 11 open reading frame 69", "chromosome 11 open reading frame 41"	C11orf69, C11orf41			Standard	NM_012194		Approved	G2, MGC34830	uc021qfs.1	Q6ZVL6	OTTHUMG00000150410	ENST00000321505.4:c.3298C>T	11.37:g.33589732C>T	ENSP00000315295:p.Arg1100Trp					KIAA1549L_ENST00000389726.3_Missense_Mutation_p.R1106W|KIAA1549L_ENST00000265654.5_Missense_Mutation_p.R1106W	p.R1100W							8	3478	+								B0QYU0	Missense_Mutation	SNP	ENST00000321505.4	37	c.3298C>T	CCDS44565.2	.	.	.	.	.	.	.	.	.	.	C	21.4	4.148690	0.78001	.	.	ENSG00000110427	ENST00000321505;ENST00000389726;ENST00000265654;ENST00000536568	.	.	.	5.44	2.27	0.28462	.	0.000000	0.85682	D	0.000000	T	0.74520	0.3727	M	0.79475	2.455	0.34044	D	0.655315	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.83445	0.0045	9	0.87932	D	0	-22.9457	13.9043	0.63823	0.5268:0.4732:0.0:0.0	.	1106;1106	E9PAT2;Q6ZVL6-2	.;.	W	1100;1106;1106;939	.	ENSP00000265654:R1106W	R	+	1	2	C11orf41	33546308	0.979000	0.34478	1.000000	0.80357	0.998000	0.95712	0.948000	0.29096	0.576000	0.29452	0.555000	0.69702	CGG		0.582	KIAA1549L-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317998.1	NM_012194		12	13	0	0	0	1	0	12	13					T	33589732	C	T	33589732	3	4	320	1	0	0	0	0	1	0	0	0	1640	759	27	1	3346	1	C11orf41	11	33589732	Missense_Mutation	SNP	C	TCGA-KK-A7AP-01A-12D-A33T-08	15563650	33589732	101416784	25	16424											
LRRC4C	57689	broad.mit.edu	37	chr11	40136892	40136892	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtgttcgagggggccatgtcTtttatccaccagctgagcca	7	11	12	11	1	1	1	0	1	1	0	3	2	2	1	4	2	2	2	4	2	1	3			TCGA-KK-A7AP-01A-12D-A33T-08	TCGA-KK-A7AP-11A-21D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c45a477-5a37-40de-a023-e282662b95d5	a1af817f-0d34-41c4-95e5-d61b174e3c6a	g.chr11:40136892T>A	ENST00000278198.2	-	2	2914	c.951A>T	c.(949-951)aaA>aaT	p.K317N	LRRC4C_ENST00000527150.1_Missense_Mutation_p.K317N|LRRC4C_ENST00000528697.1_Missense_Mutation_p.K317N|LRRC4C_ENST00000530763.1_Missense_Mutation_p.K317N			Q9HCJ2	LRC4C_HUMAN	leucine rich repeat containing 4C	317	LRRCT.				regulation of axonogenesis (GO:0050770)	cell junction (GO:0030054)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|postsynaptic membrane (GO:0045211)				NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86		all_lung(304;0.0575)|Lung NSC(402;0.138)				GGGCCATGTCTTTTATCCACC	0.483																																						ENST00000278198.2																			0				NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86						c.(949-951)aaA>aaT		leucine rich repeat containing 4C							115	100	105					11																	40136892		2203	4300	6503	SO:0001583	missense	57689				regulation of axonogenesis	integral to membrane	protein binding	g.chr11:40136892T>A	AB046800	CCDS31464.1	11p12	2013-01-14				ENSG00000148948		"Immunoglobulin superfamily / I-set domain containing"	29317	protein-coding gene	gene with protein product		608817				14595443	Standard	NM_020929		Approved	KIAA1580, NGL-1	uc031pzu.1	Q9HCJ2		ENST00000278198.2:c.951A>T	11.37:g.40136892T>A	ENSP00000278198:p.Lys317Asn					LRRC4C_ENST00000528697.1_Missense_Mutation_p.K317N|LRRC4C_ENST00000527150.1_Missense_Mutation_p.K317N|LRRC4C_ENST00000530763.1_Missense_Mutation_p.K317N	p.K317N			Q9HCJ2	LRC4C_HUMAN			2	2914	-		all_lung(304;0.0575)|Lung NSC(402;0.138)	317			LRRCT.		A8K0T1|Q7L0N3	Missense_Mutation	SNP	ENST00000278198.2	37	c.951A>T	CCDS31464.1	.	.	.	.	.	.	.	.	.	.	T	11.58	1.679957	0.29783	.	.	ENSG00000148948	ENST00000278198;ENST00000527150;ENST00000528697;ENST00000530763	T;T;T;T	0.04706	3.57;3.57;3.57;3.57	5.76	4.64	0.57946	Cysteine-rich flanking region, C-terminal (1);	0.047663	0.85682	D	0.000000	T	0.07863	0.0197	M	0.71871	2.18	0.49213	D	0.999765	P	0.36171	0.541	B	0.36378	0.223	T	0.03597	-1.1021	10	0.54805	T	0.06	.	9.4435	0.38684	0.0:0.1115:0.0:0.8885	.	317	Q9HCJ2	LRC4C_HUMAN	N	317	ENSP00000278198:K317N;ENSP00000436976:K317N;ENSP00000437132:K317N;ENSP00000434761:K317N	ENSP00000278198:K317N	K	-	3	2	LRRC4C	40093468	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	0.828000	0.27435	2.206000	0.71126	0.533000	0.62120	AAA		0.483	LRRC4C-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389499.1	NM_020929		27	28	0	0	0	1	0	27	28					A	40136892	T	A	40136892	3	1	320	1	0	0	0	0	1	0	0	0	9008	1606	56	5	975	5	LRRC4C	11	40136892	Missense_Mutation	SNP	T	TCGA-KK-A7AP-01A-12D-A33T-08	6547160	40136892	94869624	26	16425											
PDGFD	80310	broad.mit.edu	37	chr11	104034574	104034574	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcgcaaagctttgatggatgCgctctgcggggttgcagaag	8	9	16	8	3	1	2	0	1	1	1	1	3	1	3	0	3	4	5	0	3	2	2			TCGA-KK-A7AP-01A-12D-A33T-08	TCGA-KK-A7AP-11A-21D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c45a477-5a37-40de-a023-e282662b95d5	a1af817f-0d34-41c4-95e5-d61b174e3c6a	g.chr11:104034574C>T	ENST00000393158.2	-	1	261	c.82G>A	c.(82-84)Gca>Aca	p.A28T	PDGFD_ENST00000302251.5_Missense_Mutation_p.A28T			Q9GZP0	PDGFD_HUMAN	platelet derived growth factor D	28					cellular response to amino acid stimulus (GO:0071230)|multicellular organismal development (GO:0007275)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of cell division (GO:0051781)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)				biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(8)|prostate(3)|upper_aerodigestive_tract(1)	23		Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Melanoma(852;0.0563)|all_neural(303;0.165)		BRCA - Breast invasive adenocarcinoma(274;0.00136)|Epithelial(105;0.111)		TTGATGGATGCGCTCTGCGGG	0.448											OREG0021315	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000302251.5																			0				biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(8)|prostate(3)|upper_aerodigestive_tract(1)	23						c.(82-84)Gca>Aca		platelet derived growth factor D							68	69	68					11																	104034574		2202	4299	6501	SO:0001583	missense	80310				positive regulation of cell division	endoplasmic reticulum lumen|extracellular region|Golgi membrane	growth factor activity	g.chr11:104034574C>T	AF113216	CCDS8326.1, CCDS41703.1	11q22.3	2008-02-05			ENSG00000170962	ENSG00000170962			30620	protein-coding gene	gene with protein product	"spinal cord derived growth factor B"	609673				11162582, 11980634	Standard	NM_033135		Approved	SCDGF-B, MSTP036, IEGF	uc001phq.3	Q9GZP0	OTTHUMG00000165953	ENST00000393158.2:c.82G>A	11.37:g.104034574C>T	ENSP00000376865:p.Ala28Thr		OREG0021315	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1378	PDGFD_ENST00000393158.2_Missense_Mutation_p.A28T	p.A28T	NM_025208.4|NM_033135.3	NP_079484.1|NP_149126.1	Q9GZP0	PDGFD_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.00136)|Epithelial(105;0.111)	1	533	-		Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Melanoma(852;0.0563)|all_neural(303;0.165)	28					A8K9T6|Q9BWV5	Missense_Mutation	SNP	ENST00000393158.2	37	c.82G>A	CCDS41703.1	.	.	.	.	.	.	.	.	.	.	C	13.46	2.243371	0.39697	.	.	ENSG00000170962	ENST00000393158;ENST00000302251	T;T	0.26067	1.76;1.78	5.27	4.34	0.51931	.	0.385102	0.21086	N	0.080409	T	0.14270	0.0345	L	0.27053	0.805	0.29674	N	0.842263	B;P	0.35700	0.382;0.516	B;B	0.25140	0.026;0.058	T	0.08764	-1.0706	10	0.13853	T	0.58	-5.4689	12.1307	0.53942	0.1717:0.8283:0.0:0.0	.	28;28	Q9GZP0;Q9GZP0-2	PDGFD_HUMAN;.	T	28	ENSP00000376865:A28T;ENSP00000302193:A28T	ENSP00000302193:A28T	A	-	1	0	PDGFD	103539784	1.000000	0.71417	1.000000	0.80357	0.333000	0.28666	1.892000	0.39748	1.170000	0.42753	0.650000	0.86243	GCA		0.448	PDGFD-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000387231.2	NM_025208		3	49	0	0	0	1	0	3	49					T	104034574	C	T	104034574	3	4	320	1	0	0	0	0	1	0	0	0	11660	768	27	1	1058	1	PDGFD	11	104034574	Missense_Mutation	SNP	C	TCGA-KK-A7AP-01A-12D-A33T-08	63897682	104034574	30971942	27	16426											
CACNA1C	775	broad.mit.edu	37	chr12	2676868	2676868	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtcgtgtgtggcggcatcctGgagaccatcctggtggagac	6	9	16	10	2	0	2	0	0	0	2	3	4	2	2	3	5	0	1	3	5	0	0			TCGA-KK-A7AP-01A-12D-A33T-08	TCGA-KK-A7AP-11A-21D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c45a477-5a37-40de-a023-e282662b95d5	a1af817f-0d34-41c4-95e5-d61b174e3c6a	g.chr12:2676868G>A	ENST00000347598.4	+	13	1803	c.1803G>A	c.(1801-1803)ctG>ctA	p.L601L	CACNA1C_ENST00000327702.7_Silent_p.L601L|CACNA1C_ENST00000399638.1_Silent_p.L601L|CACNA1C_ENST00000399603.1_Silent_p.L601L|CACNA1C_ENST00000335762.5_Silent_p.L626L|CACNA1C_ENST00000399597.1_Silent_p.L601L|CACNA1C_ENST00000399617.1_Silent_p.L601L|CACNA1C_ENST00000399649.1_Silent_p.L601L|CACNA1C_ENST00000406454.3_Silent_p.L601L|CACNA1C_ENST00000399634.1_Silent_p.L601L|CACNA1C_ENST00000399591.1_Silent_p.L601L|CACNA1C_ENST00000399601.1_Silent_p.L601L|CACNA1C_ENST00000399629.1_Silent_p.L601L|CACNA1C_ENST00000402845.3_Silent_p.L601L|CACNA1C_ENST00000480911.1_Silent_p.L601L|CACNA1C_ENST00000399621.1_Silent_p.L601L|CACNA1C_ENST00000399606.1_Silent_p.L601L|CACNA1C_ENST00000399655.1_Silent_p.L601L|CACNA1C_ENST00000399637.1_Silent_p.L601L|CACNA1C_ENST00000399595.1_Silent_p.L601L|CACNA1C_ENST00000344100.3_Silent_p.L601L|CACNA1C_ENST00000399641.1_Silent_p.L601L|CACNA1C_ENST00000399644.1_Silent_p.L601L	NM_001129827.1|NM_199460.2	NP_001123299.1|NP_955630.2	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	601					adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport into cytosol (GO:0060402)|calcium ion-dependent exocytosis (GO:0017156)|calcium-mediated signaling using extracellular calcium source (GO:0035585)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|energy reserve metabolic process (GO:0006112)|glucose homeostasis (GO:0042593)|growth hormone secretion (GO:0030252)|insulin secretion (GO:0030073)|membrane depolarization during action potential (GO:0086010)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of insulin secretion (GO:0050796)|regulation of organ growth (GO:0046620)|regulation of vasoconstriction (GO:0019229)|small molecule metabolic process (GO:0044281)|smooth muscle contraction involved in micturition (GO:0060083)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	caveolar macromolecular signaling complex (GO:0002095)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|calmodulin binding (GO:0005516)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)	p.L601L(3)|p.L136L(1)|p.L631L(1)		NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Drotaverine(DB06751)|Felodipine(DB01023)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	GCGGCATCCTGGAGACCATCC	0.582																																						ENST00000399655.1																			5	Substitution - coding silent(5)	p.L601L(3)|p.L136L(1)|p.L631L(1)	lung(5)	NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132						c.(1801-1803)ctG>ctA		calcium channel, voltage-dependent, L type, alpha 1C subunit	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)						37	41	40					12																	2676868		2197	4298	6495	SO:0001819	synonymous_variant	775				axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity	g.chr12:2676868G>A	AF070589	CCDS44787.1, CCDS44788.1, CCDS44789.1, CCDS44790.1, CCDS44791.1, CCDS44792.1, CCDS44793.1, CCDS44794.1, CCDS44795.1, CCDS44796.1, CCDS44797.1, CCDS44798.1, CCDS44799.1, CCDS44800.1, CCDS44801.1, CCDS53733.1, CCDS53734.1, CCDS53735.1, CCDS53736.1	12p13.3	2014-09-17			ENSG00000151067	ENSG00000151067		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1390	protein-coding gene	gene with protein product		114205		CCHL1A1, CACNL1A1		1650913, 16382099	Standard	NM_001129832		Approved	Cav1.2, CACH2, CACN2, TS, LQT8	uc001qjy.3	Q13936	OTTHUMG00000150243	ENST00000347598.4:c.1803G>A	12.37:g.2676868G>A						CACNA1C_ENST00000399601.1_Silent_p.L601L|CACNA1C_ENST00000399634.1_Silent_p.L601L|CACNA1C_ENST00000402845.3_Silent_p.L601L|CACNA1C_ENST00000399606.1_Silent_p.L601L|CACNA1C_ENST00000335762.5_Silent_p.L626L|CACNA1C_ENST00000399644.1_Silent_p.L601L|CACNA1C_ENST00000399649.1_Silent_p.L601L|CACNA1C_ENST00000399597.1_Silent_p.L601L|CACNA1C_ENST00000399629.1_Silent_p.L601L|CACNA1C_ENST00000327702.7_Silent_p.L601L|CACNA1C_ENST00000399641.1_Silent_p.L601L|CACNA1C_ENST00000399638.1_Silent_p.L601L|CACNA1C_ENST00000399591.1_Silent_p.L601L|CACNA1C_ENST00000344100.3_Silent_p.L601L|CACNA1C_ENST00000399617.1_Silent_p.L601L|CACNA1C_ENST00000347598.4_Silent_p.L601L|CACNA1C_ENST00000399637.1_Silent_p.L601L|CACNA1C_ENST00000399621.1_Silent_p.L601L|CACNA1C_ENST00000480911.1_Silent_p.L601L|CACNA1C_ENST00000399595.1_Silent_p.L601L|CACNA1C_ENST00000406454.3_Silent_p.L601L|CACNA1C_ENST00000399603.1_Silent_p.L601L	p.L601L	NM_000719.6|NM_001129829.1|NM_001129834.1	NP_000710.5|NP_001123301.1|NP_001123306.1	Q13936	CAC1C_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	13	2068	+			601					B2RUT3|E9PDJ0|Q13917|Q13918|Q13919|Q13920|Q13921|Q13922|Q13923|Q13924|Q13925|Q13926|Q13927|Q13928|Q13929|Q13930|Q13932|Q13933|Q14743|Q14744|Q15877|Q4VMI7|Q4VMI8|Q4VMI9|Q6PKM7|Q8N6C0|Q99025|Q99241|Q99875	Silent	SNP	ENST00000347598.4	37	c.1803G>A	CCDS44788.1																																																																																				0.582	CACNA1C-017	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317035.1	NM_000719		14	18	0	0	0	1	0	14	18					A	2676868	G	A	2676868	2	1	320	1	0	0	0	0	0	0	0	1	2540	1335	47	3		3	CACNA1C	12	2676868	Silent	SNP	G	TCGA-KK-A7AP-01A-12D-A33T-08		2676868	131175027	28	16427											
ARID2	196528	broad.mit.edu	37	chr12	46211601	46211601	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctatcaaatgaaagcaagcaCgtcatgcaacttgaaaaaga	19	7	7	8	1	2	3	2	2	0	1	2	3	2	3	0	0	4	3	0	0	7	2			TCGA-KK-A7AP-01A-12D-A33T-08	TCGA-KK-A7AP-11A-21D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c45a477-5a37-40de-a023-e282662b95d5	a1af817f-0d34-41c4-95e5-d61b174e3c6a	g.chr12:46211601C>T	ENST00000334344.6	+	5	739	c.567C>T	c.(565-567)caC>caT	p.H189H	ARID2_ENST00000422737.1_Silent_p.H40H	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	189					chromatin modification (GO:0016568)|nucleosome disassembly (GO:0006337)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		AAAGCAAGCACGTCATGCAAC	0.353			"N, S, F"		hepatocellular carcinoma																																	ENST00000334344.6				Rec	yes		12	12q12	196528	"N, S, F"	AT rich interactive domain 2			E			hepatocellular carcinoma		0				NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116						c.(565-567)caC>caT		AT rich interactive domain 2 (ARID, RFX-like)							91	81	84					12																	46211601		2203	4300	6503	SO:0001819	synonymous_variant	196528				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr12:46211601C>T		CCDS31783.1	12q13.11	2013-02-07			ENSG00000189079	ENSG00000189079		"-"	18037	protein-coding gene	gene with protein product		609539					Standard	NM_152641		Approved	KIAA1557, DKFZp686G052, FLJ30619, BAF200	uc001ros.1	Q68CP9	OTTHUMG00000150487	ENST00000334344.6:c.567C>T	12.37:g.46211601C>T						ARID2_ENST00000422737.1_Silent_p.H40H	p.H189H	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)	5	739	+	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	189					Q15KG9|Q5EB51|Q645I3|Q6ZRY5|Q7Z3I5|Q86T28|Q96SJ6|Q9HCL5	Silent	SNP	ENST00000334344.6	37	c.567C>T	CCDS31783.1	.	.	.	.	.	.	.	.	.	.	C	15.41	2.826312	0.50739	.	.	ENSG00000189079	ENST00000549153;ENST00000338636	.	.	.	5.56	1.68	0.24146	.	.	.	.	.	T	0.60818	0.2298	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.55829	-0.8079	5	0.46703	T	0.11	-7.5844	8.6135	0.33817	0.0:0.4283:0.0:0.5717	.	.	.	.	M	81	.	ENSP00000339739:T81M	T	+	2	0	ARID2	44497868	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	0.810000	0.27183	0.031000	0.15407	0.555000	0.69702	ACG		0.353	ARID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318380.2	XM_350875		27	40	0	0	0	1	0	27	40					T	46211601	C	T	46211601	2	4	320	1	0	0	0	0	0	0	0	1	915	535	19	1		1	ARID2	12	46211601	Silent	SNP	C	TCGA-KK-A7AP-01A-12D-A33T-08	43534733	46211601	87640294	29	16428											
MLL2	8085	broad.mit.edu	37	chr12	49427537	49427537	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggcgaagacctccggcttGcccacccggaggcccctgtg	6	5	13	17	3	0	1	0	0	0	1	1	3	1	2	6	4	1	1	6	4	1	1			TCGA-KK-A7AP-01A-12D-A33T-08	TCGA-KK-A7AP-11A-21D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c45a477-5a37-40de-a023-e282662b95d5	a1af817f-0d34-41c4-95e5-d61b174e3c6a	g.chr12:49427537G>T	ENST00000301067.7	-	39	10950	c.10951C>A	c.(10951-10953)Caa>Aaa	p.Q3651K	KMT2D_ENST00000549743.1_5'Flank	NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	3651	Gln-rich.				chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)										CCTCCGGCTTGCCCACCCGGA	0.662																																						ENST00000301067.7																			0											c.(10951-10953)Caa>Aaa		lysine (K)-specific methyltransferase 2D							21	24	23					12																	49427537		1963	4169	6132	SO:0001583	missense	8085							g.chr12:49427537G>T	AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	7133	protein-coding gene	gene with protein product		602113	"trinucleotide repeat containing 21", "myeloid/lymphoid or mixed-lineage leukemia 2"	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.10951C>A	12.37:g.49427537G>T	ENSP00000301067:p.Gln3651Lys						p.Q3651K	NM_003482.3	NP_003473.3					39	10950	-								O14687	Missense_Mutation	SNP	ENST00000301067.7	37	c.10951C>A	CCDS44873.1	.	.	.	.	.	.	.	.	.	.	G	13.41	2.227624	0.39399	.	.	ENSG00000167548	ENST00000301067	T	0.80653	-1.4	5.34	5.34	0.76211	.	0.000000	0.35555	N	0.003124	T	0.79873	0.4521	N	0.19112	0.55	0.49130	D	0.999752	D	0.67145	0.996	P	0.54759	0.76	T	0.83146	-0.0106	10	0.87932	D	0	.	18.1987	0.89831	0.0:0.0:1.0:0.0	.	3651	O14686	MLL2_HUMAN	K	3651	ENSP00000301067:Q3651K	ENSP00000301067:Q3651K	Q	-	1	0	MLL2	47713804	1.000000	0.71417	0.997000	0.53966	0.981000	0.71138	3.428000	0.52792	2.673000	0.90976	0.563000	0.77884	CAA		0.662	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2			3	23	1	0	0.150653	1	0.150653	3	23					T	49427537	G	T	49427537	3	4	320	1	0	0	0	0	1	0	0	0	9621	1328	46	5	5726	5	MLL2	12	49427537	Missense_Mutation	SNP	G	TCGA-KK-A7AP-01A-12D-A33T-08	3215936	49427537	84424358	30	16429											
ACACB	32	broad.mit.edu	37	chr12	109703025	109703025	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggccagcggggagctgagTcacgtgcatatccagtccat	9	7	13	12	2	1	1	1	1	0	0	3	2	3	2	3	3	3	2	3	3	1	1			TCGA-KK-A7AP-01A-12D-A33T-08	TCGA-KK-A7AP-11A-21D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c45a477-5a37-40de-a023-e282662b95d5	a1af817f-0d34-41c4-95e5-d61b174e3c6a	g.chr12:109703025T>C	ENST00000338432.7	+	51	7172	c.7053T>C	c.(7051-7053)agT>agC	p.S2351S	ACACB_ENST00000543201.1_3'UTR|ACACB_ENST00000377854.5_Silent_p.S2281S|ACACB_ENST00000377848.3_Silent_p.S2351S			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	2351					acetyl-CoA metabolic process (GO:0006084)|biotin metabolic process (GO:0006768)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|malonyl-CoA biosynthetic process (GO:2001295)|positive regulation of cellular metabolic process (GO:0031325)|protein homotetramerization (GO:0051289)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	acetyl-CoA carboxylase activity (GO:0003989)|ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin carboxylase activity (GO:0004075)|metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Adenine(DB00173)|Biotin(DB00121)	GGGAGCTGAGTCACGTGCATA	0.652																																						ENST00000338432.7																			0				NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95						c.(7051-7053)agT>agC		acetyl-CoA carboxylase beta	Biotin(DB00121)						77	66	70					12																	109703025		2203	4300	6503	SO:0001819	synonymous_variant	32				acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	cytosol|endomembrane system|Golgi apparatus|membrane	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding	g.chr12:109703025T>C	U89344	CCDS31898.1	12q24.1	2010-05-07	2010-04-30		ENSG00000076555	ENSG00000076555	6.4.1.2		85	protein-coding gene	gene with protein product	"acetyl-CoA carboxylase 2"	601557	"acetyl-Coenzyme A carboxylase beta"			8670171	Standard	NM_001093		Approved	HACC275, ACC2, ACCB	uc001toc.3	O00763	OTTHUMG00000169250	ENST00000338432.7:c.7053T>C	12.37:g.109703025T>C						ACACB_ENST00000543201.1_3'UTR|ACACB_ENST00000377848.3_Silent_p.S2351S|ACACB_ENST00000377854.5_Silent_p.S2281S	p.S2351S			O00763	ACACB_HUMAN			51	7172	+			2351					A6NK36|Q16852|Q1HEC1|Q6KE87|Q6KE89|Q6TY48	Silent	SNP	ENST00000338432.7	37	c.7053T>C	CCDS31898.1																																																																																				0.652	ACACB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403077.1	NM_001093		10	74	0	0	0	1	0	10	74					C	109703025	T	C	109703025	2	2	320	1	0	0	0	0	0	0	0	1	107	1664	58	4		4	ACACB	12	109703025	Silent	SNP	T	TCGA-KK-A7AP-01A-12D-A33T-08	60275488	109703025	24148870	31	16430											
DNAH10	196385	broad.mit.edu	37	chr12	124383256	124383256	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgaaggaggccaccatccagCtggacgagctgaaccagaag	13	4	13	11	1	0	3	0	2	0	1	1	6	1	5	4	3	3	2	4	3	3	0			TCGA-KK-A7AP-01A-12D-A33T-08	TCGA-KK-A7AP-11A-21D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c45a477-5a37-40de-a023-e282662b95d5	a1af817f-0d34-41c4-95e5-d61b174e3c6a	g.chr12:124383256C>G	ENST00000409039.3	+	55	9206	c.9181C>G	c.(9181-9183)Ctg>Gtg	p.L3061V		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	3061	Stalk. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		CACCATCCAGCTGGACGAGCT	0.622																																						ENST00000409039.3																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52						c.(9181-9183)Ctg>Gtg		dynein, axonemal, heavy chain 10							19	24	22					12																	124383256		2018	4178	6196	SO:0001583	missense	196385				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr12:124383256C>G	AJ132089	CCDS9255.2	12q24	2008-02-05	2006-09-04		ENSG00000197653	ENSG00000197653		"Axonemal dyneins"	2941	protein-coding gene	gene with protein product		605884	"dynein, axonemal, heavy polypeptide 10"				Standard	NM_207437		Approved	FLJ43808	uc001uft.4	Q8IVF4	OTTHUMG00000154477	ENST00000409039.3:c.9181C>G	12.37:g.124383256C>G	ENSP00000386770:p.Leu3061Val						p.L3061V	NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)	55	9206	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		3061			Stalk (By similarity).		C9JMF5|O95495|Q6ZUC9|Q6ZUP6|Q8N761	Missense_Mutation	SNP	ENST00000409039.3	37	c.9181C>G	CCDS9255.2	.	.	.	.	.	.	.	.	.	.	C	7.052	0.564726	0.13498	.	.	ENSG00000197653	ENST00000409039	T	0.68624	-0.34	4.54	3.65	0.41850	Dynein heavy chain, coiled coil stalk (1);	0.389043	0.24274	N	0.039975	T	0.49592	0.1566	N	0.15975	0.35	0.46954	D	0.999263	B	0.34015	0.435	B	0.41510	0.359	T	0.44283	-0.9338	10	0.02654	T	1	.	12.7585	0.57350	0.0:0.9201:0.0:0.0799	.	3061	Q8IVF4	DYH10_HUMAN	V	3061	ENSP00000386770:L3061V	ENSP00000386770:L3061V	L	+	1	2	DNAH10	122949209	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	3.877000	0.56123	1.126000	0.42016	0.462000	0.41574	CTG		0.622	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335420.3			6	3	0	0	0	1	0	6	3					G	124383256	C	G	124383256	3	3	320	1	0	0	0	0	1	0	0	0	4598	796	28	5	9399	5	DNAH10	12	124383256	Missense_Mutation	SNP	C	TCGA-KK-A7AP-01A-12D-A33T-08	14680231	124383256	9468639	32	16431											
TUBGCP3	10426	broad.mit.edu	37	chr13	113143999	113143999	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcttcctctgctgccgtcaCtccccactggccctgaacaa	6	10	6	19	1	3	1	1	1	2	0	5	1	5	1	5	1	3	1	5	1	2	1			TCGA-KK-A7AP-01A-12D-A33T-08	TCGA-KK-A7AP-11A-21D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c45a477-5a37-40de-a023-e282662b95d5	a1af817f-0d34-41c4-95e5-d61b174e3c6a	g.chr13:113143999C>T	ENST00000261965.3	-	21	2647	c.2461G>A	c.(2461-2463)Gtg>Atg	p.V821M		NM_006322.4	NP_006313.1	Q96CW5	GCP3_HUMAN	tubulin, gamma complex associated protein 3	821					G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)|single fertilization (GO:0007338)	centriole (GO:0005814)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|polar microtubule (GO:0005827)|spindle (GO:0005819)	gamma-tubulin binding (GO:0043015)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|urinary_tract(1)	25	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)					GCTGCCGTCACTCCCCACTGG	0.418																																						ENST00000261965.3																			0				central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|urinary_tract(1)	25						c.(2461-2463)Gtg>Atg		tubulin, gamma complex associated protein 3							157	138	145					13																	113143999		2203	4300	6503	SO:0001583	missense	10426				G2/M transition of mitotic cell cycle|microtubule nucleation|single fertilization	centriole|cytosol|polar microtubule	gamma-tubulin binding|structural constituent of cytoskeleton	g.chr13:113143999C>T	AF042378	CCDS9525.1, CCDS66584.1, CCDS73599.1	13q34	2008-07-18			ENSG00000126216	ENSG00000126216			18598	protein-coding gene	gene with protein product	"spindle pole body protein"					9566967, 9566969	Standard	XM_005268293		Approved	GCP3, Spc98p, SPBC98	uc001vse.1	Q96CW5	OTTHUMG00000017367	ENST00000261965.3:c.2461G>A	13.37:g.113143999C>T	ENSP00000261965:p.Val821Met						p.V821M	NM_006322.4	NP_006313.1	Q96CW5	GCP3_HUMAN			21	2647	-	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)		821					O43631|O60852|O60853|Q5T8L2|Q7Z4K1|Q96I79	Missense_Mutation	SNP	ENST00000261965.3	37	c.2461G>A	CCDS9525.1	.	.	.	.	.	.	.	.	.	.	C	13.33	2.203876	0.38905	.	.	ENSG00000126216	ENST00000261965	T	0.25749	1.78	5.26	4.4	0.53042	.	0.112167	0.64402	N	0.000012	T	0.20820	0.0501	L	0.31926	0.97	0.80722	D	1	B;B	0.18968	0.032;0.017	B;B	0.22601	0.04;0.04	T	0.03651	-1.1016	10	0.27785	T	0.31	-23.9601	14.1688	0.65495	0.0:0.9269:0.0:0.0731	.	811;821	B4DYP7;Q96CW5	.;GCP3_HUMAN	M	821	ENSP00000261965:V821M	ENSP00000261965:V821M	V	-	1	0	TUBGCP3	112192000	1.000000	0.71417	1.000000	0.80357	0.817000	0.46193	3.343000	0.52167	2.474000	0.83562	0.555000	0.69702	GTG		0.418	TUBGCP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045825.2	NM_006322		24	7	0	0	0	1	0	24	7					T	113143999	C	T	113143999	3	4	320	1	0	0	0	0	1	0	0	0	16764	565	20	3	270	3	TUBGCP3	13	113143999	Missense_Mutation	SNP	C	TCGA-KK-A7AP-01A-12D-A33T-08		113143999	2025879	33	16432											
C14orf79	122616	broad.mit.edu	37	chr14	105461072	105461072	+	Frame_Shift_Del	DEL	A	A	-																															ccacgcaagctcaaactgacActctttaatagcgacgtttg																										TCGA-KK-A7AP-01A-12D-A33T-08	TCGA-KK-A7AP-11A-21D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c45a477-5a37-40de-a023-e282662b95d5	a1af817f-0d34-41c4-95e5-d61b174e3c6a	g.chr14:105461072delA	ENST00000547315.1	+	5	1593	c.954delA	c.(952-954)acafs	p.T318fs	C14orf79_ENST00000550614.1_Frame_Shift_Del_p.T76fs|C14orf79_ENST00000549240.1_Frame_Shift_Del_p.T76fs|C14orf79_ENST00000549584.1_Intron	NM_174891.3	NP_777551.2	Q96F83	CN079_HUMAN	chromosome 14 open reading frame 79	318										breast(1)|endometrium(1)|lung(1)	3		all_cancers(154;0.0798)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.00326)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0181)			TCAAACTGACACTCTTTAATA	0.473																																						ENST00000549240.1																			0				breast(1)|endometrium(1)|lung(1)	3						c.(226-228)acfs		chromosome 14 open reading frame 79							72	72	72					14																	105461072		1916	4137	6053	SO:0001589	frameshift_variant	122616							g.chr14:105461072delA		CCDS42000.1	14q32.33	2012-09-25			ENSG00000140104	ENSG00000140104			20126	protein-coding gene	gene with protein product							Standard	NM_174891		Approved		uc001ypy.1	Q96F83	OTTHUMG00000170474	ENST00000547315.1:c.954delA	14.37:g.105461072delA	ENSP00000450114:p.Thr318fs					C14orf79_ENST00000550614.1_Frame_Shift_Del_p.T76fs|C14orf79_ENST00000549584.1_Intron|C14orf79_ENST00000547315.1_Frame_Shift_Del_p.T318fs	p.T76fs			Q96F83	CN079_HUMAN	all cancers(16;0.00326)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0181)		3	2036	+		all_cancers(154;0.0798)|Melanoma(154;0.155)|all_epithelial(191;0.183)	318					B2RPK9|Q9BTP4	Frame_Shift_Del	DEL	ENST00000547315.1	37	c.228delA	CCDS42000.1																																																																																				0.473	C14orf79-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409318.1	NM_174891		35	48						35	48	---	---	---	---	-	105461072	A	-	105461072	7	5	320	1	0	1	0	1	0	0	0	0	1780	146	6	0	972	0	C14orf79	14	105461072	Frame_Shift_Del	DEL	A	TCGA-KK-A7AP-01A-12D-A33T-08		105461072	1888468	34	16433											
MGA	23269	broad.mit.edu	37	chr15	41961930	41961930	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaagaacagctctgaccaaGaagggaataatatttccagt	18	8	8	7	0	1	3	0	1	1	2	2	4	2	4	2	1	2	1	2	1	8	3			TCGA-KK-A7AP-01A-12D-A33T-08	TCGA-KK-A7AP-11A-21D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c45a477-5a37-40de-a023-e282662b95d5	a1af817f-0d34-41c4-95e5-d61b174e3c6a	g.chr15:41961930G>T	ENST00000570161.1	+	1	838	c.838G>T	c.(838-840)Gaa>Taa	p.E280*	MGA_ENST00000568630.1_Intron|MGA_ENST00000389936.4_Nonsense_Mutation_p.E280*|MGA_ENST00000219905.7_Nonsense_Mutation_p.E280*|MGA_ENST00000545763.1_Nonsense_Mutation_p.E280*|MGA_ENST00000566586.1_Nonsense_Mutation_p.E280*			O43451	MGA_HUMAN	MGA, MAX dimerization protein	0	Maltase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)			NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)	Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	CTCTGACCAAGAAGGGAATAA	0.448																																						ENST00000219905.7																			0				NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95						c.(838-840)Gaa>Taa		MGA, MAX dimerization protein							62	59	60					15																	41961930		1857	4101	5958	SO:0001587	stop_gained	23269					MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr15:41961930G>T	AB011090	CCDS55959.1, CCDS55960.1	15q15	2012-11-15	2012-11-15		ENSG00000174197	ENSG00000174197		"MAX dimerization proteins", "T-boxes"	14010	protein-coding gene	gene with protein product			"MAX gene associated"				Standard	NM_001080541		Approved	KIAA0518, MAD5, MXD5, FLJ12634	uc010ucy.2	Q8IWI9		ENST00000570161.1:c.838G>T	15.37:g.41961930G>T	ENSP00000457035:p.Glu280*					MGA_ENST00000566586.1_Nonsense_Mutation_p.E280*|MGA_ENST00000545763.1_Nonsense_Mutation_p.E280*|MGA_ENST00000568630.1_Intron|MGA_ENST00000389936.4_Nonsense_Mutation_p.E280*|MGA_ENST00000570161.1_Nonsense_Mutation_p.E280*	p.E280*	NM_001164273.1	NP_001157745.1	Q8IWI9	MGAP_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)	2	1019	+		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)	280					Q0VAX6|Q75ME7|Q86UM5	Nonsense_Mutation	SNP	ENST00000570161.1	37	c.838G>T	CCDS55959.1	.	.	.	.	.	.	.	.	.	.	G	35	5.585625	0.96578	.	.	ENSG00000174197	ENST00000219905;ENST00000389936;ENST00000545763	.	.	.	5.74	5.74	0.90152	.	0.822850	0.11346	N	0.573507	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	20.2982	0.98569	0.0:0.0:1.0:0.0	.	.	.	.	X	280	.	ENSP00000219905:E280X	E	+	1	0	MGA	39749222	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	4.068000	0.57534	2.873000	0.98535	0.563000	0.77884	GAA		0.448	MGA-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000420229.1	NM_001164273.1		3	3	1	0	6.4e-05	1	7.15452e-05	3	3					T	41961930	G	T	41961930	4	4	320	1	0	0	0	0	0	1	0	0	9540	943	33	5	840	5	MGA	15	41961930	Nonsense_Mutation	SNP	G	TCGA-KK-A7AP-01A-12D-A33T-08		41961930	60569462	35	16434											
FGF7	2252	broad.mit.edu	37	chr15	49716687	49716687	+	Nonsense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	acatggaaggaggggatataAgagtgagaagactcttctgt	14	9	14	4	0	2	3	0	1	2	3	2	7	2	6	0	4	0	0	0	4	4	3			TCGA-KK-A7AP-01A-12D-A33T-08	TCGA-KK-A7AP-11A-21D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c45a477-5a37-40de-a023-e282662b95d5	a1af817f-0d34-41c4-95e5-d61b174e3c6a	g.chr15:49716687A>T	ENST00000267843.4	+	2	804	c.193A>T	c.(193-195)Aga>Tga	p.R65*	FGF7_ENST00000560270.1_Nonsense_Mutation_p.R65*|FAM227B_ENST00000561064.1_Intron|FAM227B_ENST00000299338.6_Intron	NM_002009.3	NP_002000.1	P21781	FGF7_HUMAN	fibroblast growth factor 7	65					actin cytoskeleton reorganization (GO:0031532)|branching involved in salivary gland morphogenesis (GO:0060445)|epidermal growth factor receptor signaling pathway (GO:0007173)|epidermis development (GO:0008544)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hair follicle morphogenesis (GO:0031069)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|mesenchymal cell proliferation (GO:0010463)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive chemotaxis (GO:0050918)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial cell proliferation involved in lung morphogenesis (GO:0060501)|positive regulation of keratinocyte migration (GO:0051549)|positive regulation of keratinocyte proliferation (GO:0010838)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|protein localization to cell surface (GO:0034394)|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling (GO:0060665)|response to wounding (GO:0009611)|secretion by lung epithelial cell involved in lung growth (GO:0061033)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)	chemoattractant activity (GO:0042056)|growth factor activity (GO:0008083)|heparin binding (GO:0008201)			kidney(1)|large_intestine(1)|lung(2)|prostate(1)	5		all_lung(180;0.00391)		all cancers(107;3.61e-08)|GBM - Glioblastoma multiforme(94;4.06e-05)		AGGGGATATAAGAGTGAGAAG	0.423																																						ENST00000267843.4																			0				kidney(1)|large_intestine(1)|lung(2)|prostate(1)	5						c.(193-195)Aga>Tga		fibroblast growth factor 7	Palifermin(DB00039)						108	105	106					15																	49716687		2196	4295	6491	SO:0001587	stop_gained	2252				actin cytoskeleton reorganization|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|mesenchymal cell proliferation|positive regulation of cell division|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of keratinocyte migration|positive regulation of keratinocyte proliferation|positive regulation of peptidyl-tyrosine phosphorylation|protein localization at cell surface|secretion by lung epithelial cell involved in lung growth		chemoattractant activity|growth factor activity	g.chr15:49716687A>T	M60828	CCDS10131.1	15q21.2	2014-01-30	2010-08-18		ENSG00000140285	ENSG00000140285		"Endogenous ligands"	3685	protein-coding gene	gene with protein product	"keratinocyte growth factor"	148180	"fibroblast growth factor 7 (keratinocyte growth factor)"			7749227, 1409637	Standard	NM_002009		Approved	KGF	uc001zxn.3	P21781	OTTHUMG00000131517	ENST00000267843.4:c.193A>T	15.37:g.49716687A>T	ENSP00000267843:p.Arg65*					FGF7_ENST00000560270.1_Nonsense_Mutation_p.R65*|FAM227B_ENST00000561064.1_Intron|FAM227B_ENST00000299338.6_Intron	p.R65*	NM_002009.3	NP_002000.1	P21781	FGF7_HUMAN		all cancers(107;3.61e-08)|GBM - Glioblastoma multiforme(94;4.06e-05)	2	804	+		all_lung(180;0.00391)	65					H0YNY5|Q6FGV5|Q96FG5	Nonsense_Mutation	SNP	ENST00000267843.4	37	c.193A>T	CCDS10131.1	.	.	.	.	.	.	.	.	.	.	A	38	7.231976	0.98150	.	.	ENSG00000140285	ENST00000267843	.	.	.	5.7	4.56	0.56223	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.3301	0.55035	0.7335:0.2665:0.0:0.0	.	.	.	.	X	65	.	ENSP00000267843:R65X	R	+	1	2	FGF7	47503979	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.967000	0.56802	0.977000	0.38444	0.533000	0.62120	AGA		0.423	FGF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254374.3	NM_002009		3	47	0	0	0	1	0	3	47					T	49716687	A	T	49716687	4	4	320	1	0	0	0	0	0	1	0	0	5857	64	3	5	195	5	FGF7	15	49716687	Nonsense_Mutation	SNP	A	TCGA-KK-A7AP-01A-12D-A33T-08	7754757	49716687	52814705	36	16435											
MYLK3	91807	broad.mit.edu	37	chr16	46772020	46772020	+	Frame_Shift_Del	DEL	C	C	-																															tctgatggggggcagcctctCcgctgtcccctccagcacgt																										TCGA-KK-A7AP-01A-12D-A33T-08	TCGA-KK-A7AP-11A-21D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c45a477-5a37-40de-a023-e282662b95d5	a1af817f-0d34-41c4-95e5-d61b174e3c6a	g.chr16:46772020delC	ENST00000394809.4	-	3	719	c.604delG	c.(604-606)gagfs	p.E202fs	MYLK3_ENST00000536476.1_Intron	NM_182493.2	NP_872299.2	Q32MK0	MYLK3_HUMAN	myosin light chain kinase 3	202					cardiac myofibril assembly (GO:0055003)|cellular response to interleukin-1 (GO:0071347)|positive regulation of sarcomere organization (GO:0060298)|protein phosphorylation (GO:0006468)|regulation of vascular permeability involved in acute inflammatory response (GO:0002528)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|myosin light chain kinase activity (GO:0004687)			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(5)|stomach(3)	37		all_cancers(37;0.00023)|all_epithelial(9;0.000543)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116)				GGCAGCCTCTCCGCTGTCCCC	0.637																																						ENST00000394809.4																			0				central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(5)|stomach(3)	37						c.(604-606)agfs		myosin light chain kinase 3							11	11	11					16																	46772020		2125	4192	6317	SO:0001589	frameshift_variant	91807				cardiac myofibril assembly|cellular response to interleukin-1|positive regulation of sarcomere organization|regulation of vascular permeability involved in acute inflammatory response|sarcomere organization|sarcomerogenesis	cytosol	ATP binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity	g.chr16:46772020delC	AJ247087	CCDS10723.2	16q11.2	2008-10-23			ENSG00000140795	ENSG00000140795			29826	protein-coding gene	gene with protein product	"MLC kinase"	612147				17885681	Standard	NM_182493		Approved	caMLCK, MLCK	uc002eei.4	Q32MK0	OTTHUMG00000132543	ENST00000394809.4:c.604delG	16.37:g.46772020delC	ENSP00000378288:p.Glu202fs					MYLK3_ENST00000536476.1_Intron	p.E202fs	NM_182493.2	NP_872299.2	Q32MK0	MYLK3_HUMAN			3	719	-		all_cancers(37;0.00023)|all_epithelial(9;0.000543)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116)	202					B5BUL9|B7Z5U8|Q32MK1|Q96DV1	Frame_Shift_Del	DEL	ENST00000394809.4	37	c.604delG	CCDS10723.2																																																																																				0.637	MYLK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255743.2	NM_182493		9	16						9	16	---	---	---	---	-	46772020	C	-	46772020	7	5	320	1	0	1	0	1	0	0	0	0	10058	864	30	0	1899	0	MYLK3	16	46772020	Frame_Shift_Del	DEL	C	TCGA-KK-A7AP-01A-12D-A33T-08		46772020	43582733	37	16436											
MYO15A	51168	broad.mit.edu	37	chr17	18052096	18052096	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggctggcagatggctggcgCggctggaccgtggccatgaa	6	6	19	10	3	0	2	0	1	0	1	0	3	0	3	2	7	0	4	2	7	1	0	rs372462304		TCGA-KK-A7AP-01A-12D-A33T-08	TCGA-KK-A7AP-11A-21D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c45a477-5a37-40de-a023-e282662b95d5	a1af817f-0d34-41c4-95e5-d61b174e3c6a	g.chr17:18052096C>T	ENST00000205890.5	+	33	7124	c.6786C>T	c.(6784-6786)cgC>cgT	p.R2262R	snoU13_ENST00000459354.1_RNA	NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	2262	Tail.				inner ear morphogenesis (GO:0042472)|locomotory behavior (GO:0007626)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|stereocilium (GO:0032420)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					ATGGCTGGCGCGGCTGGACCG	0.602																																						ENST00000205890.5																			0				breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99						c.(6784-6786)cgC>cgT		myosin XVA				1,4111		0,1,2055	15	18	17		6786	-5.2	1	17		17	0,8392		0,0,4196	no	coding-synonymous	MYO15A	NM_016239.3		0,1,6251	TT,TC,CC		0.0,0.0243,0.0080		2262/3531	18052096	1,12503	2056	4196	6252	SO:0001819	synonymous_variant	51168				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity	g.chr17:18052096C>T	AF144094	CCDS42271.1	17p11.2	2011-09-27			ENSG00000091536	ENSG00000091536		"Myosins / Myosin superfamily : Class XV"	7594	protein-coding gene	gene with protein product		602666		DFNB3, MYO15		9603736	Standard	NM_016239		Approved		uc021trl.1	Q9UKN7	OTTHUMG00000059390	ENST00000205890.5:c.6786C>T	17.37:g.18052096C>T							p.R2262R	NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN			33	7124	+	all_neural(463;0.228)		2262			Tail.		B4DFC7	Silent	SNP	ENST00000205890.5	37	c.6786C>T	CCDS42271.1																																																																																				0.602	MYO15A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132048.1	NM_016239		10	10	0	0	0	1	0	10	10					T	18052096	C	T	18052096	2	4	320	1	0	0	0	0	0	0	0	1	10063	755	27	1		1	MYO15A	17	18052096	Silent	SNP	C	TCGA-KK-A7AP-01A-12D-A33T-08		18052096	63143114	38	16437											
SMCR8	140775	broad.mit.edu	37	chr17	18220605	18220605	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtaccattgagcccccaggTggtccggagcaaagcagtca	11	6	12	12	1	1	1	1	1	0	0	2	2	2	2	4	3	4	3	4	3	2	2			TCGA-KK-A7AP-01A-12D-A33T-08	TCGA-KK-A7AP-11A-21D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c45a477-5a37-40de-a023-e282662b95d5	a1af817f-0d34-41c4-95e5-d61b174e3c6a	g.chr17:18220605T>G	ENST00000406438.3	+	1	1982	c.1502T>G	c.(1501-1503)gTg>gGg	p.V501G	TOP3A_ENST00000582230.1_5'Flank|TOP3A_ENST00000321105.5_5'Flank|TOP3A_ENST00000542570.1_5'Flank	NM_144775.2	NP_658988.2	Q8TEV9	SMCR8_HUMAN	Smith-Magenis syndrome chromosome region, candidate 8	501						nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	21						AGCCCCCAGGTGGTCCGGAGC	0.532																																						ENST00000406438.3																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	21						c.(1501-1503)gTg>gGg		Smith-Magenis syndrome chromosome region, candidate 8							63	65	64					17																	18220605		2203	4300	6503	SO:0001583	missense	140775							g.chr17:18220605T>G	AF467440	CCDS11195.2	17p11.2	2014-06-12			ENSG00000176994	ENSG00000176994			17921	protein-coding gene	gene with protein product						11997338, 23248642	Standard	NM_144775		Approved	FLJ34716	uc002gsy.4	Q8TEV9	OTTHUMG00000059394	ENST00000406438.3:c.1502T>G	17.37:g.18220605T>G	ENSP00000385025:p.Val501Gly						p.V501G	NM_144775.2	NP_658988.2	Q8TEV9	SMCR8_HUMAN			1	1982	+			501					A5PKZ5|Q3ZCN0|Q6PJL3	Missense_Mutation	SNP	ENST00000406438.3	37	c.1502T>G	CCDS11195.2	.	.	.	.	.	.	.	.	.	.	T	10.92	1.485719	0.26686	.	.	ENSG00000176994	ENST00000406438	T	0.39056	1.1	5.91	5.91	0.95273	.	0.302458	0.32802	N	0.005637	T	0.28366	0.0701	L	0.29908	0.895	0.45076	D	0.998092	P	0.35077	0.483	B	0.27887	0.084	T	0.16012	-1.0417	10	0.72032	D	0.01	-39.7433	9.3903	0.38370	0.0:0.1374:0.0:0.8626	.	501	Q8TEV9	SMCR8_HUMAN	G	501	ENSP00000385025:V501G	ENSP00000385025:V501G	V	+	2	0	SMCR8	18161330	1.000000	0.71417	0.997000	0.53966	0.756000	0.42949	2.076000	0.41548	2.261000	0.74972	0.533000	0.62120	GTG		0.532	SMCR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132065.2	NM_144775		65	58	0	0	0	1	0	65	58					G	18220605	T	G	18220605	3	3	320	1	0	0	0	0	1	0	0	0	14792	1696	59	5	1504	5	SMCR8	17	18220605	Missense_Mutation	SNP	T	TCGA-KK-A7AP-01A-12D-A33T-08	168509	18220605	62974605	39	16438											
UNC119	9094	broad.mit.edu	37	chr17	26874688	26874688	+	Intron	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cactcccagaagaccctgccCgcgcactcagctcctcggag	8	5	9	19	3	1	2	1	0	0	2	4	3	3	3	4	1	2	2	4	1	1	0	rs148433825		TCGA-KK-A7AP-01A-12D-A33T-08	TCGA-KK-A7AP-11A-21D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c45a477-5a37-40de-a023-e282662b95d5	a1af817f-0d34-41c4-95e5-d61b174e3c6a	g.chr17:26874688C>A	ENST00000335765.4	-	4	721				UNC119_ENST00000470125.1_Missense_Mutation_p.R111L|UNC119_ENST00000484980.1_Intron|UNC119_ENST00000301032.4_Missense_Mutation_p.R206L	NM_005148.3	NP_005139.1	Q13432	U119A_HUMAN	unc-119 homolog (C. elegans)						cytokinesis, completion of separation (GO:0007109)|endocytosis (GO:0006897)|lipoprotein transport (GO:0042953)|negative regulation of caveolin-mediated endocytosis (GO:2001287)|negative regulation of clathrin-mediated endocytosis (GO:1900186)|phototransduction (GO:0007602)|positive regulation of protein tyrosine kinase activity (GO:0061098)|synaptic transmission (GO:0007268)|visual perception (GO:0007601)	centrosome (GO:0005813)|cytosol (GO:0005829)|intercellular bridge (GO:0045171)|spindle midzone (GO:0051233)|spindle pole (GO:0000922)	lipid binding (GO:0008289)	p.?(1)|p.R206L(1)		breast(1)|large_intestine(1)|lung(3)|prostate(1)|stomach(1)	7	Lung NSC(42;0.00431)					AGACCCTGCCCGCGCACTCAG	0.602																																						ENST00000470125.1																			2	Substitution - Missense(1)|Unknown(1)	p.?(1)|p.R206L(1)	lung(2)	breast(1)|large_intestine(1)|lung(3)|prostate(1)|stomach(1)	7						c.(331-333)cGg>cTg		unc-119 homolog (C. elegans)							42	48	46					17																	26874688		2203	4300	6503	SO:0001627	intron_variant	9094				phototransduction|synaptic transmission|visual perception	cytosol|soluble fraction		g.chr17:26874688C>A	U40998	CCDS11233.1, CCDS11234.1	17q11.2	2014-09-17	2001-11-28		ENSG00000109103	ENSG00000109103			12565	protein-coding gene	gene with protein product	"POC7 centriolar protein homolog A (Chlamydomonas)"	604011	"unc119 (C.elegans) homolog"			8576185, 9538874	Standard	NM_005148		Approved	HRG4, POC7, POC7A	uc002hbk.2	Q13432	OTTHUMG00000132606	ENST00000335765.4:c.610+6G>T	17.37:g.26874688C>A						UNC119_ENST00000335765.4_Intron|UNC119_ENST00000301032.4_Missense_Mutation_p.R206L|UNC119_ENST00000484980.1_Intron	p.R111L			Q13432	U119A_HUMAN			3	1090	-	Lung NSC(42;0.00431)		0					A8K8G4|F1T095|O95126	Missense_Mutation	SNP	ENST00000335765.4	37	c.332G>T	CCDS11233.1	.	.	.	.	.	.	.	.	.	.	C	11.60	1.687830	0.29962	.	.	ENSG00000109103	ENST00000301032;ENST00000444148	T;T	0.77229	-1.08;-1.08	5.13	3.08	0.35506	.	.	.	.	.	T	0.42720	0.1215	N	0.00436	-1.5	0.09310	N	0.999997	B	0.02656	0.0	B	0.01281	0.0	T	0.37126	-0.9719	9	0.26408	T	0.33	.	6.8529	0.24024	0.1717:0.736:0.0:0.0923	.	206	F1T095	.	L	206;199	ENSP00000301032:R206L;ENSP00000414639:R199L	ENSP00000301032:R206L	R	-	2	0	UNC119	23898815	0.020000	0.18652	0.955000	0.39395	0.408000	0.30992	0.324000	0.19610	1.135000	0.42183	0.462000	0.41574	CGG		0.602	UNC119-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255842.2			29	8	1	0	2.87052e-16	1	3.48127e-16	29	8					A	26874688	C	A	26874688	1	1	320	0	1	0	0	0	0	0	0	0	16979	652	23	5		5	UNC119	17	26874688	Intron	SNP	C	TCGA-KK-A7AP-01A-12D-A33T-08	8654083	26874688	54320522	40	16439											
PTPRM	5797	broad.mit.edu	37	chr18	8143703	8143703	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cagacagaccatacagttaaAattgctggagtcatcgcggg	13	8	11	9	2	1	2	1	0	0	2	2	3	1	3	1	2	2	2	1	2	3	3			TCGA-KK-A7AP-01A-12D-A33T-08	TCGA-KK-A7AP-11A-21D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c45a477-5a37-40de-a023-e282662b95d5	a1af817f-0d34-41c4-95e5-d61b174e3c6a	g.chr18:8143703A>C	ENST00000332175.8	+	14	3263	c.2226A>C	c.(2224-2226)aaA>aaC	p.K742N	PTPRM_ENST00000400053.4_Missense_Mutation_p.K680N|PTPRM_ENST00000444013.1_Missense_Mutation_p.K529N|PTPRM_ENST00000400060.4_Missense_Mutation_p.K742N|PTPRM_ENST00000580170.1_Missense_Mutation_p.K742N	NM_002845.3	NP_002836.3	P28827	PTPRM_HUMAN	protein tyrosine phosphatase, receptor type, M	742					homophilic cell adhesion (GO:0007156)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|neuron projection development (GO:0031175)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of vasodilation (GO:0045909)|protein dephosphorylation (GO:0006470)|response to drug (GO:0042493)|retina layer formation (GO:0010842)|retinal ganglion cell axon guidance (GO:0031290)|signal transduction (GO:0007165)	cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|perinuclear region of cytoplasm (GO:0048471)	cadherin binding (GO:0045296)|identical protein binding (GO:0042802)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(32)|lung(25)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	90		Colorectal(10;0.234)				ATACAGTTAAAATTGCTGGAG	0.448																																						ENST00000332175.8																			0				breast(3)|central_nervous_system(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(32)|lung(25)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	90						c.(2224-2226)aaA>aaC		protein tyrosine phosphatase, receptor type, M							158	154	156					18																	8143703		2203	4300	6503	SO:0001583	missense	5797				homophilic cell adhesion|negative regulation of angiogenesis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|response to drug|retina layer formation|retinal ganglion cell axon guidance	cell-cell adherens junction|integral to plasma membrane|lamellipodium|perinuclear region of cytoplasm	cadherin binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr18:8143703A>C	X58288	CCDS11840.1, CCDS58613.1	18p11.2	2013-02-11			ENSG00000173482	ENSG00000173482		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	9675	protein-coding gene	gene with protein product		176888		PTPRL1		1655529, 8404049	Standard	NM_002845		Approved	RPTPU, hR-PTPu	uc010dkv.3	P28827	OTTHUMG00000131575	ENST00000332175.8:c.2226A>C	18.37:g.8143703A>C	ENSP00000331418:p.Lys742Asn					PTPRM_ENST00000400053.4_Missense_Mutation_p.K680N|PTPRM_ENST00000400060.4_Missense_Mutation_p.K742N|PTPRM_ENST00000580170.1_Missense_Mutation_p.K742N|PTPRM_ENST00000444013.1_Missense_Mutation_p.K529N	p.K742N	NM_002845.3	NP_002836.3	P28827	PTPRM_HUMAN			14	3263	+		Colorectal(10;0.234)	742					A7MBN1|D3DUH8|J3QL11	Missense_Mutation	SNP	ENST00000332175.8	37	c.2226A>C	CCDS11840.1	.	.	.	.	.	.	.	.	.	.	A	17.12	3.308041	0.60305	.	.	ENSG00000173482	ENST00000332175;ENST00000400060;ENST00000400053;ENST00000444013	T;T;T;T	0.50001	1.05;1.11;0.91;0.76	5.92	1.74	0.24563	.	0.051009	0.85682	D	0.000000	T	0.59197	0.2176	M	0.65498	2.005	0.44241	D	0.997082	D;D;D	0.71674	0.984;0.998;0.998	P;D;D	0.76071	0.811;0.987;0.987	T	0.55386	-0.8149	10	0.18276	T	0.48	.	9.7866	0.40679	0.7439:0.0:0.2561:0.0	.	529;742;742	E7EVX9;A7MBN1;P28827	.;.;PTPRM_HUMAN	N	742;742;680;529	ENSP00000331418:K742N;ENSP00000382933:K742N;ENSP00000382927:K680N;ENSP00000387608:K529N	ENSP00000331418:K742N	K	+	3	2	PTPRM	8133703	1.000000	0.71417	0.971000	0.41717	0.991000	0.79684	1.534000	0.36051	0.460000	0.27045	0.533000	0.62120	AAA		0.448	PTPRM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254456.1			51	54	0	0	0	1	0	51	54					C	8143703	A	C	8143703	3	2	320	1	0	0	0	0	1	0	0	0	12806	11	1	5	2280	5	PTPRM	18	8143703	Missense_Mutation	SNP	A	TCGA-KK-A7AP-01A-12D-A33T-08		8143703	69933545	41	16440											
C18orf34	374864	broad.mit.edu	37	chr18	30913136	30913136	+	Splice_Site	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gctcatgcattcgtttatttAcctccattttttttttataa	8	22	3	8	1	1	0	1	0	0	0	3	0	2	0	2	0	2	3	2	0	4	11			TCGA-KK-A7AP-01A-12D-A33T-08	TCGA-KK-A7AP-11A-21D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c45a477-5a37-40de-a023-e282662b95d5	a1af817f-0d34-41c4-95e5-d61b174e3c6a	g.chr18:30913136A>T	ENST00000383096.3	-	10	1062		c.e10+1		CCDC178_ENST00000406524.2_Splice_Site|CCDC178_ENST00000402325.1_Splice_Site|CCDC178_ENST00000583930.1_Splice_Site|CCDC178_ENST00000579947.1_Splice_Site|CCDC178_ENST00000403303.1_Splice_Site|CCDC178_ENST00000579916.1_Intron|CCDC178_ENST00000300227.8_Splice_Site			Q5BJE1	CC178_HUMAN	coiled-coil domain containing 178																		TCGTTTATTTACCTCCATTTT	0.308																																						ENST00000383096.3																			0											c.e10+1		coiled-coil domain containing 178							80	78	79					18																	30913136		2203	4300	6503	SO:0001630	splice_region_variant	374864							g.chr18:30913136A>T	AK126038	CCDS11906.1, CCDS42424.1	18q12.1	2012-10-15	2012-10-15	2012-10-15	ENSG00000166960	ENSG00000166960			29588	protein-coding gene	gene with protein product			"chromosome 18 open reading frame 34"	C18orf34			Standard	NM_198995		Approved	FLJ44050	uc002kxn.2	Q5BJE1	OTTHUMG00000132279	ENST00000383096.3:c.879+1T>A	18.37:g.30913136A>T						CCDC178_ENST00000579947.1_Splice_Site|CCDC178_ENST00000300227.8_Splice_Site|CCDC178_ENST00000583930.1_Splice_Site|CCDC178_ENST00000406524.2_Splice_Site|CCDC178_ENST00000579916.1_Intron|CCDC178_ENST00000402325.1_Splice_Site|CCDC178_ENST00000403303.1_Splice_Site								10	1062	-								A6NDC6|J3KS92|Q6ZP67|Q6ZU20	Splice_Site	SNP	ENST00000383096.3	37		CCDS42424.1	.	.	.	.	.	.	.	.	.	.	A	10.72	1.430293	0.25726	.	.	ENSG00000166960	ENST00000403303;ENST00000383096;ENST00000300227;ENST00000406524;ENST00000402325	.	.	.	5.32	5.32	0.75619	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.9517	0.52959	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	C18orf34	29167134	1.000000	0.71417	0.994000	0.49952	0.075000	0.17131	5.104000	0.64584	2.138000	0.66242	0.455000	0.32223	.		0.308	CCDC178-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255373.2	NM_198995	Intron	7	27	0	0	0	1	0	7	27					T	30913136	A	T	30913136	5	4	320	1	0	0	0	0	0	0	1	0	1902	405	14	5	1778	5	C18orf34	18	30913136	Splice_Site	SNP	A	TCGA-KK-A7AP-01A-12D-A33T-08	22769433	30913136	47164112	42	16441											
VAV1	7409	broad.mit.edu	37	chr19	6850726	6850726	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaatcatgacagcagaaggActgtaccggatcacagagaa	18	5	10	8	1	2	3	2	1	0	2	2	6	2	5	1	2	2	2	1	2	5	1			TCGA-KK-A7AP-01A-12D-A33T-08	TCGA-KK-A7AP-11A-21D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c45a477-5a37-40de-a023-e282662b95d5	a1af817f-0d34-41c4-95e5-d61b174e3c6a	g.chr19:6850726A>C	ENST00000602142.1	+	24	2257	c.2175A>C	c.(2173-2175)ggA>ggC	p.G725G	VAV1_ENST00000596764.1_Silent_p.G693G|VAV1_ENST00000539284.1_Silent_p.G628G|VAV1_ENST00000304076.2_Silent_p.G703G|VAV1_ENST00000599806.1_Silent_p.G670G	NM_005428.3	NP_005419.2	P15498	VAV_HUMAN	vav 1 guanine nucleotide exchange factor	725	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				apoptotic signaling pathway (GO:0097190)|blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil chemotaxis (GO:0030593)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|reactive oxygen species metabolic process (GO:0072593)|regulation of Rac GTPase activity (GO:0032314)|regulation of small GTPase mediated signal transduction (GO:0051056)|regulation of transcription, DNA-templated (GO:0006355)|small GTPase mediated signal transduction (GO:0007264)|T cell activation (GO:0042110)|T cell costimulation (GO:0031295)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|sequence-specific DNA binding transcription factor activity (GO:0003700)			biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(16)|lung(18)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	62						CAGCAGAAGGACTGTACCGGA	0.552																																						ENST00000304076.2																			0				biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(16)|lung(18)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	62						c.(2107-2109)ggA>ggC		vav 1 guanine nucleotide exchange factor							111	100	104					19																	6850726		2203	4300	6503	SO:0001819	synonymous_variant	7409				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|T cell costimulation	cytosol|plasma membrane	metal ion binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr19:6850726A>C		CCDS12174.1, CCDS59341.1, CCDS59342.1	19p13.2	2013-02-14	2007-07-25			ENSG00000141968		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing", "SH2 domain containing"	12657	protein-coding gene	gene with protein product		164875	"vav 1 oncogene"	VAV		9438848	Standard	NM_005428		Approved		uc010xjh.2	P15498		ENST00000602142.1:c.2175A>C	19.37:g.6850726A>C						VAV1_ENST00000599806.1_Silent_p.G670G|VAV1_ENST00000602142.1_Silent_p.G725G|VAV1_ENST00000596764.1_Silent_p.G693G|VAV1_ENST00000539284.1_Silent_p.G628G	p.G703G	NM_001258206.1	NP_001245135.1	P15498	VAV_HUMAN			23	2203	+			725			SH2.		B4DVK9|M0QXX6|Q15860	Silent	SNP	ENST00000602142.1	37	c.2109A>C	CCDS12174.1																																																																																				0.552	VAV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458475.1			27	31	0	0	0	1	0	27	31					C	6850726	A	C	6850726	2	2	320	1	0	0	0	0	0	0	0	1	17128	262	10	5		5	VAV1	19	6850726	Silent	SNP	A	TCGA-KK-A7AP-01A-12D-A33T-08		6850726	52278257	43	16442											
FBN3	84467	broad.mit.edu	37	chr19	8197878	8197878	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaggctcacccatgcagtaGtggccgccaggcgccagcag	8	4	13	16	2	1	0	1	0	0	0	1	0	1	0	5	3	2	4	5	3	1	1			TCGA-KK-A7AP-01A-12D-A33T-08	TCGA-KK-A7AP-11A-21D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c45a477-5a37-40de-a023-e282662b95d5	a1af817f-0d34-41c4-95e5-d61b174e3c6a	g.chr19:8197878G>C	ENST00000600128.1	-	14	2118	c.1704C>G	c.(1702-1704)caC>caG	p.H568Q	FBN3_ENST00000270509.2_Missense_Mutation_p.H568Q|FBN3_ENST00000601739.1_Missense_Mutation_p.H568Q			Q75N90	FBN3_HUMAN	fibrillin 3	568	EGF-like 6; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.					proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						CCATGCAGTAGTGGCCGCCAG	0.662																																						ENST00000600128.1																			0				NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						c.(1702-1704)caC>caG		fibrillin 3							29	22	25					19																	8197878		2195	4294	6489	SO:0001583	missense	84467					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent	g.chr19:8197878G>C		CCDS12196.1	19p13	2008-02-05							18794	protein-coding gene	gene with protein product		608529					Standard	NM_032447		Approved		uc002mjf.3	Q75N90		ENST00000600128.1:c.1704C>G	19.37:g.8197878G>C	ENSP00000470498:p.His568Gln					FBN3_ENST00000270509.2_Missense_Mutation_p.H568Q|FBN3_ENST00000601739.1_Missense_Mutation_p.H568Q	p.H568Q			Q75N90	FBN3_HUMAN			14	2118	-			568			EGF-like 6; calcium-binding.		Q75N91|Q75N92|Q75N93|Q86SJ5|Q96JP8	Missense_Mutation	SNP	ENST00000600128.1	37	c.1704C>G	CCDS12196.1	.	.	.	.	.	.	.	.	.	.	g	4.272	0.049527	0.08243	.	.	ENSG00000142449	ENST00000270509	D	0.86956	-2.19	2.61	2.61	0.31194	EGF-like region, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.065033	0.64402	U	0.000006	T	0.74839	0.3769	N	0.16708	0.43	0.09310	N	0.999998	B	0.10296	0.003	B	0.09377	0.004	T	0.62900	-0.6756	10	0.33940	T	0.23	.	9.8076	0.40803	0.0:0.2114:0.7886:0.0	.	568	Q75N90	FBN3_HUMAN	Q	568	ENSP00000270509:H568Q	ENSP00000270509:H568Q	H	-	3	2	FBN3	8103878	0.975000	0.34042	0.965000	0.40720	0.168000	0.22595	0.075000	0.14686	1.159000	0.42565	0.461000	0.40582	CAC		0.662	FBN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461428.2	NM_032447		3	3	0	0	0	1	0	3	3					C	8197878	G	C	8197878	3	2	320	1	0	0	0	0	1	0	0	0	5704	1020	36	5	6929	5	FBN3	19	8197878	Missense_Mutation	SNP	G	TCGA-KK-A7AP-01A-12D-A33T-08	1347152	8197878	50931105	44	16443											
LGALS13	29124	broad.mit.edu	37	chr19	40095282	40095282	+	Frame_Shift_Del	DEL	G	G	-																															gtctttgtctgttggttcctGcgtgataatcaaagggacac																										TCGA-KK-A7AP-01A-12D-A33T-08	TCGA-KK-A7AP-11A-21D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c45a477-5a37-40de-a023-e282662b95d5	a1af817f-0d34-41c4-95e5-d61b174e3c6a	g.chr19:40095282delG	ENST00000221797.4	+	2	101	c.56delG	c.(55-57)tgcfs	p.C19fs		NM_013268.2	NP_037400.1	Q9UHV8	PP13_HUMAN	lectin, galactoside-binding, soluble, 13	19	Galectin. {ECO:0000255|PROSITE- ProRule:PRU00639}.				apoptotic process (GO:0006915)|phospholipid metabolic process (GO:0006644)		carbohydrate binding (GO:0030246)|lysophospholipase activity (GO:0004622)			lung(5)|ovary(1)|urinary_tract(1)	7	all_cancers(60;1.77e-05)|all_lung(34;5.38e-08)|Lung NSC(34;6.37e-08)|Ovarian(47;0.116)		Epithelial(26;3.28e-26)|OV - Ovarian serous cystadenocarcinoma(5;7.31e-25)|all cancers(26;1.15e-23)|LUSC - Lung squamous cell carcinoma(53;0.00281)			GTTGGTTCCTGCGTGATAATC	0.483																																						ENST00000221797.4																			0				lung(5)|ovary(1)|urinary_tract(1)	7						c.(55-57)tcfs		lectin, galactoside-binding, soluble, 13							188	159	169					19																	40095282		2203	4300	6503	SO:0001589	frameshift_variant	29124				lipid catabolic process|phospholipid metabolic process		carboxylesterase activity|lysophospholipase activity|sugar binding	g.chr19:40095282delG	AF117383	CCDS33024.1	19q13.2	2014-03-19	2008-07-25		ENSG00000105198	ENSG00000105198		"Lectins, galactoside-binding"	15449	protein-coding gene	gene with protein product	"galectin 13"	608717				6856484, 10527825	Standard	NM_013268		Approved	PP13, PLAC8	uc002omb.3	Q9UHV8	OTTHUMG00000183073	ENST00000221797.4:c.56delG	19.37:g.40095282delG	ENSP00000221797:p.Cys19fs						p.C19fs	NM_013268.2	NP_037400.1	Q9UHV8	PP13_HUMAN	Epithelial(26;3.28e-26)|OV - Ovarian serous cystadenocarcinoma(5;7.31e-25)|all cancers(26;1.15e-23)|LUSC - Lung squamous cell carcinoma(53;0.00281)		2	101	+	all_cancers(60;1.77e-05)|all_lung(34;5.38e-08)|Lung NSC(34;6.37e-08)|Ovarian(47;0.116)		19			Galectin.		C5HZ15	Frame_Shift_Del	DEL	ENST00000221797.4	37	c.56delG	CCDS33024.1																																																																																				0.483	LGALS13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464968.1	NM_013268		45	95						45	95	---	---	---	---	-	40095282	G	-	40095282	7	5	320	1	0	1	0	1	0	0	0	0	8740	1319	46	0	62	0	LGALS13	19	40095282	Frame_Shift_Del	DEL	G	TCGA-KK-A7AP-01A-12D-A33T-08	31897404	40095282	19033701	45	16444											
POU2F2	5452	broad.mit.edu	37	chr19	42599443	42599443	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcgggctcttggtaccatatGggggctgtagctggccggct	4	10	17	10	2	1	0	0	0	1	0	1	0	1	0	2	6	2	6	2	6	3	4			TCGA-KK-A7AP-01A-12D-A33T-08	TCGA-KK-A7AP-11A-21D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c45a477-5a37-40de-a023-e282662b95d5	a1af817f-0d34-41c4-95e5-d61b174e3c6a	g.chr19:42599443G>T	ENST00000526816.2	-	11	1141	c.1126C>A	c.(1126-1128)Cat>Aat	p.H376N	POU2F2_ENST00000529952.1_Missense_Mutation_p.H376N|POU2F2_ENST00000560398.1_Missense_Mutation_p.H382N|POU2F2_ENST00000533720.1_Missense_Mutation_p.H360N|POU2F2_ENST00000560558.1_Missense_Mutation_p.H321N|POU2F2_ENST00000389341.5_Missense_Mutation_p.H360N|POU2F2_ENST00000342301.4_Missense_Mutation_p.H376N|POU2F2_ENST00000529067.1_Missense_Mutation_p.H360N			P09086	PO2F2_HUMAN	POU class 2 homeobox 2	376					cell maturation (GO:0048469)|humoral immune response (GO:0006959)|immunoglobulin secretion involved in immune response (GO:0002380)|mature B cell differentiation (GO:0002335)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			kidney(1)|large_intestine(5)|lung(4)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Prostate(69;0.059)			Dolutegravir(DB08930)	GGTACCATATGGGGGCTGTAG	0.652																																						ENST00000389341.5																			0				kidney(1)|large_intestine(5)|lung(4)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						c.(1078-1080)Cat>Aat		POU class 2 homeobox 2							17	20	19					19																	42599443		2201	4300	6501	SO:0001583	missense	5452				humoral immune response|transcription from RNA polymerase II promoter	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr19:42599443G>T		CCDS33035.1, CCDS56094.1, CCDS56095.1, CCDS58665.1	19q13.2	2011-06-20	2007-07-13					"Homeoboxes / POU class"	9213	protein-coding gene	gene with protein product		164176	"POU domain class 2, transcription factor 2"	OTF2			Standard	NM_001207026		Approved	OCT2	uc002osp.3	P09086		ENST00000526816.2:c.1126C>A	19.37:g.42599443G>T	ENSP00000431603:p.His376Asn					POU2F2_ENST00000560558.1_Missense_Mutation_p.H321N|POU2F2_ENST00000526816.2_Missense_Mutation_p.H376N|POU2F2_ENST00000560398.1_Missense_Mutation_p.H382N|POU2F2_ENST00000342301.4_Missense_Mutation_p.H376N|POU2F2_ENST00000533720.1_Missense_Mutation_p.H360N|POU2F2_ENST00000529067.1_Missense_Mutation_p.H360N|POU2F2_ENST00000529952.1_Missense_Mutation_p.H376N	p.H360N	NM_001207025.2|NM_001247994.1|NM_002698.4	NP_001193954.1|NP_001234923.1|NP_002689.1	P09086	PO2F2_HUMAN			11	1144	-		Prostate(69;0.059)	376					Q16648|Q7M4M8|Q9BRS4	Missense_Mutation	SNP	ENST00000526816.2	37	c.1078C>A	CCDS56095.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.131628	0.77662	.	.	ENSG00000028277	ENST00000389341;ENST00000342301;ENST00000292077;ENST00000533720;ENST00000526816;ENST00000529067;ENST00000529952	D;D;D;T;D	0.83075	-1.61;-1.68;-1.65;-1.39;-1.62	3.99	3.99	0.46301	.	0.577012	0.16047	N	0.232159	T	0.81049	0.4742	L	0.32530	0.975	0.50039	D	0.999849	P;D;P	0.55385	0.913;0.971;0.93	P;B;P	0.50754	0.614;0.388;0.649	T	0.78841	-0.2045	10	0.30078	T	0.28	.	15.3987	0.74818	0.0:0.0:1.0:0.0	.	360;376;360	P09086-4;P09086;P09086-3	.;PO2F2_HUMAN;.	N	360;376;376;360;375;360;376	ENSP00000373992:H360N;ENSP00000339369:H376N;ENSP00000437221:H360N;ENSP00000437224:H360N;ENSP00000436988:H376N	ENSP00000292077:H376N	H	-	1	0	POU2F2	47291283	1.000000	0.71417	0.997000	0.53966	0.985000	0.73830	4.047000	0.57383	2.214000	0.71695	0.655000	0.94253	CAT		0.652	POU2F2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000387329.3			7	11	1	0	0.00198382	1	0.00209403	7	11					T	42599443	G	T	42599443	3	4	320	1	0	0	0	0	1	0	0	0	12272	1348	47	5	329	5	POU2F2	19	42599443	Missense_Mutation	SNP	G	TCGA-KK-A7AP-01A-12D-A33T-08	2504161	42599443	16529540	46	16445											
PPP1R15A	23645	broad.mit.edu	37	chr19	49376722	49376722	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccataccccttggggcagaCgccctgaagaggaggctgaa	10	5	13	13	1	0	4	0	2	0	2	0	5	0	5	4	4	1	2	4	4	3	2			TCGA-KK-A7AP-01A-12D-A33T-08	TCGA-KK-A7AP-11A-21D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c45a477-5a37-40de-a023-e282662b95d5	a1af817f-0d34-41c4-95e5-d61b174e3c6a	g.chr19:49376722C>T	ENST00000200453.5	+	2	501	c.232C>T	c.(232-234)Cgc>Tgc	p.R78C		NM_014330.3	NP_055145.3	O75807	PR15A_HUMAN	protein phosphatase 1, regulatory subunit 15A	78					apoptotic process (GO:0006915)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|regulation of translation (GO:0006417)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)	protein kinase binding (GO:0019901)			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(8)|skin(2)|urinary_tract(1)	23		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000244)|all cancers(93;0.000694)|GBM - Glioblastoma multiforme(486;0.0222)|Epithelial(262;0.033)		TTGGGGCAGACGCCCTGAAGA	0.582																																						ENST00000200453.5																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(8)|skin(2)|urinary_tract(1)	23						c.(232-234)Cgc>Tgc		protein phosphatase 1, regulatory subunit 15A							56	54	55					19																	49376722		2203	4300	6503	SO:0001583	missense	23645				apoptosis|cell cycle arrest|regulation of translation|response to DNA damage stimulus	endoplasmic reticulum	protein binding	g.chr19:49376722C>T	U83981	CCDS12738.1	19q13.2	2012-04-17	2011-10-04		ENSG00000087074	ENSG00000087074		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	14375	protein-coding gene	gene with protein product	"growth arrest and DNA-damage-inducible 34"	611048	"protein phosphatase 1, regulatory (inhibitor) subunit 15A"			9153226, 9413226	Standard	NM_014330		Approved	GADD34	uc002pky.4	O75807		ENST00000200453.5:c.232C>T	19.37:g.49376722C>T	ENSP00000200453:p.Arg78Cys						p.R78C	NM_014330.3	NP_055145.3	O75807	PR15A_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000244)|all cancers(93;0.000694)|GBM - Glioblastoma multiforme(486;0.0222)|Epithelial(262;0.033)	2	501	+		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)	78			Required for localization in the endoplasmic reticulum.		B4DKQ3|Q6IA96|Q9NVU6	Missense_Mutation	SNP	ENST00000200453.5	37	c.232C>T	CCDS12738.1	.	.	.	.	.	.	.	.	.	.	T	8.273	0.813764	0.16537	.	.	ENSG00000087074	ENST00000200453;ENST00000544084	T	0.03689	3.84	4.02	0.768	0.18487	.	2.332160	0.01508	N	0.017809	T	0.03011	0.0089	N	0.03608	-0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.48317	-0.9046	10	0.52906	T	0.07	1.3332	13.313	0.60390	0.0:0.905:0.0:0.095	.	78	O75807	PR15A_HUMAN	C	78;36	ENSP00000200453:R78C	ENSP00000200453:R78C	R	+	1	0	PPP1R15A	54068534	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.461000	0.02366	0.040000	0.15660	-3.982000	0.00014	CGC		0.582	PPP1R15A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466226.1	NM_014330		21	36	0	0	0	1	0	21	36					T	49376722	C	T	49376722	3	4	320	1	0	0	0	0	1	0	0	0	12363	536	19	1	234	1	PPP1R15A	19	49376722	Missense_Mutation	SNP	C	TCGA-KK-A7AP-01A-12D-A33T-08	6777279	49376722	9752261	47	16446											
SLC12A5	57468	broad.mit.edu	37	chr20	44674562	44674562	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gagagccgacctgggccctgCtcctgactgcctgcatctgc	5	8	12	16	1	1	2	0	1	1	1	2	4	2	2	5	1	5	2	5	1	0	0			TCGA-KK-A7AP-01A-12D-A33T-08	TCGA-KK-A7AP-11A-21D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c45a477-5a37-40de-a023-e282662b95d5	a1af817f-0d34-41c4-95e5-d61b174e3c6a	g.chr20:44674562C>T	ENST00000454036.2	+	13	1733	c.1684C>T	c.(1684-1686)Ctc>Ttc	p.L562F	SLC12A5_ENST00000243964.3_Missense_Mutation_p.L539F	NM_001134771.1	NP_001128243.1	Q9H2X9	S12A5_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 5	562					cellular ion homeostasis (GO:0006873)|chloride transmembrane transport (GO:1902476)|ion transport (GO:0006811)|learning (GO:0007612)|multicellular organism growth (GO:0035264)|potassium ion transport (GO:0006813)|response to drug (GO:0042493)|synaptic transmission (GO:0007268)|thermosensory behavior (GO:0040040)|transmembrane transport (GO:0055085)|transport (GO:0006810)	dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	CTGGGCCCTGCTCCTGACTGC	0.587																																						ENST00000454036.1																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80						c.(1684-1686)Ctc>Ttc		solute carrier family 12 (potassium/chloride transporter), member 5	Bumetanide(DB00887)|Potassium Chloride(DB00761)						115	98	104					20																	44674562		2203	4300	6503	SO:0001583	missense	57468				potassium ion transport|sodium ion transport	integral to membrane	potassium:chloride symporter activity	g.chr20:44674562C>T	AB033002	CCDS13391.1, CCDS46610.1	20q13.12	2013-05-22	2010-04-20		ENSG00000124140	ENSG00000124140		"Solute carriers"	13818	protein-coding gene	gene with protein product		606726					Standard	NM_020708		Approved	KIAA1176, KCC2	uc010zxl.1	Q9H2X9	OTTHUMG00000032638	ENST00000454036.2:c.1684C>T	20.37:g.44674562C>T	ENSP00000387694:p.Leu562Phe					SLC12A5_ENST00000539566.1_Silent_p.C185C|SLC12A5_ENST00000243964.3_Missense_Mutation_p.L539F	p.L562F	NM_001134771.1	NP_001128243.1	Q9H2X9	S12A5_HUMAN			13	1760	+		Myeloproliferative disorder(115;0.0122)	562					A2RTX2|Q5VZ41|Q9H4Z0|Q9ULP4	Missense_Mutation	SNP	ENST00000454036.2	37	c.1684C>T	CCDS46610.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.318610	0.81469	.	.	ENSG00000124140	ENST00000454036;ENST00000243964	D;D	0.99014	-5.33;-5.33	4.46	4.46	0.54185	Amino acid permease domain (1);	0.000000	0.64402	D	0.000018	D	0.98131	0.9383	L	0.52364	1.645	0.80722	D	1	P;B	0.40032	0.699;0.434	P;B	0.46339	0.513;0.328	D	0.98720	1.0708	10	0.45353	T	0.12	.	15.858	0.79000	0.0:1.0:0.0:0.0	.	562;539	Q9H2X9;Q9H2X9-2	S12A5_HUMAN;.	F	562;539	ENSP00000387694:L562F;ENSP00000243964:L539F	ENSP00000243964:L539F	L	+	1	0	SLC12A5	44107969	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.796000	0.62496	2.317000	0.78254	0.563000	0.77884	CTC		0.587	SLC12A5-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000471538.1			5	81	0	0	0	1	0	5	81					T	44674562	C	T	44674562	3	4	320	1	0	0	0	0	1	0	0	0	14386	797	28	3	1790	3	SLC12A5	20	44674562	Missense_Mutation	SNP	C	TCGA-KK-A7AP-01A-12D-A33T-08		44674562	18350958	48	16447											
XPNPEP3	63929	broad.mit.edu	37	chr22	41318452	41318452	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tctacagcatgatgctgaccCtgataggacagaagcttaaa	14	9	9	9	0	1	4	0	3	1	1	1	5	1	5	1	1	4	3	1	1	5	3			TCGA-KK-A7AP-01A-12D-A33T-08	TCGA-KK-A7AP-11A-21D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c45a477-5a37-40de-a023-e282662b95d5	a1af817f-0d34-41c4-95e5-d61b174e3c6a	g.chr22:41318452C>A	ENST00000357137.4	+	8	1255	c.1171C>A	c.(1171-1173)Ctg>Atg	p.L391M	XPNPEP3_ENST00000544094.1_Missense_Mutation_p.L368M	NM_022098.3	NP_071381.1	Q9NQH7	XPP3_HUMAN	X-prolyl aminopeptidase (aminopeptidase P) 3, putative	391					glomerular filtration (GO:0003094)|protein processing (GO:0016485)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	aminopeptidase activity (GO:0004177)|manganese ion binding (GO:0030145)|metallopeptidase activity (GO:0008237)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	17						GATGCTGACCCTGATAGGACA	0.453																																					Ovarian(145;306 1841 7037 21878 30110)	ENST00000357137.4																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	17						c.(1171-1173)Ctg>Atg		X-prolyl aminopeptidase (aminopeptidase P) 3, putative							233	228	230					22																	41318452		2203	4300	6503	SO:0001583	missense	63929				cellular process	mitochondrion	aminopeptidase activity|manganese ion binding|metallopeptidase activity	g.chr22:41318452C>A		CCDS14007.1, CCDS74869.1	22q13.2	2010-07-20			ENSG00000196236	ENSG00000196236			28052	protein-coding gene	gene with protein product		613553				15708373, 20179356	Standard	NM_022098		Approved	APP3, NPHPL1	uc003azh.3	Q9NQH7	OTTHUMG00000151312	ENST00000357137.4:c.1171C>A	22.37:g.41318452C>A	ENSP00000349658:p.Leu391Met					XPNPEP3_ENST00000544094.1_Missense_Mutation_p.L368M	p.L391M	NM_022098.3	NP_071381.1	Q9NQH7	XPP3_HUMAN			8	1255	+			391					B2R9G1|B7Z790|B7Z7B2|Q6I9V9|Q8NDA6|Q9BV27|Q9BVH0	Missense_Mutation	SNP	ENST00000357137.4	37	c.1171C>A	CCDS14007.1	.	.	.	.	.	.	.	.	.	.	C	14.42	2.530661	0.45073	.	.	ENSG00000196236	ENST00000357137;ENST00000544094	T;T	0.77620	-1.11;-1.11	5.85	1.55	0.23275	Peptidase M24, structural domain (3);	0.071318	0.56097	D	0.000021	T	0.63604	0.2525	L	0.41236	1.265	0.48901	D	0.999721	P	0.38617	0.64	B	0.36567	0.228	T	0.57464	-0.7807	10	0.49607	T	0.09	-5.2218	5.0413	0.14460	0.1347:0.5862:0.0:0.2791	.	391	Q9NQH7	XPP3_HUMAN	M	391;368	ENSP00000349658:L391M;ENSP00000441942:L368M	ENSP00000349658:L391M	L	+	1	2	XPNPEP3	39648398	0.886000	0.30341	0.046000	0.18839	0.721000	0.41392	1.751000	0.38339	0.406000	0.25560	0.655000	0.94253	CTG		0.453	XPNPEP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322201.2	NM_022098		5	209	1	0	0.000602214	1	0.000647665	5	209					A	41318452	C	A	41318452	3	1	320	1	0	0	0	0	1	0	0	0	17441	680	24	5	1201	5	XPNPEP3	22	41318452	Missense_Mutation	SNP	C	TCGA-KK-A7AP-01A-12D-A33T-08		41318452	9986114	49	16448											
ZMYM3	9203	broad.mit.edu	37	chrX	70470452	70470480	+	Frame_Shift_Del	DEL	CCCGGCCCTTTGTGACACACTTGAGCGTA	CCCGGCCCTTTGTGACACACTTGAGCGTA	-																															ttggtgcccactgcagagcgCccggccctttgtgacacact																								rs377219001		TCGA-KK-A7AP-01A-12D-A33T-08	TCGA-KK-A7AP-11A-21D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c45a477-5a37-40de-a023-e282662b95d5	a1af817f-0d34-41c4-95e5-d61b174e3c6a	g.chrX:70470452_70470480delCCCGGCCCTTTGTGACACACTTGAGCGTA	ENST00000353904.2	-	5	1062_1090	c.875_903delTACGCTCAAGTGTGTCACAAAGGGCCGGG	c.(874-903)ctacgctcaagtgtgtcacaaagggccgggfs	p.LRSSVSQRAG292fs	ZMYM3_ENST00000314425.5_Frame_Shift_Del_p.LRSSVSQRAG292fs|ZMYM3_ENST00000373978.1_Intron|ZMYM3_ENST00000373988.1_Frame_Shift_Del_p.LRSSVSQRAG294fs|ZMYM3_ENST00000373981.1_Frame_Shift_Del_p.LRSSVSQRAG292fs|ZMYM3_ENST00000373998.1_Frame_Shift_Del_p.LRSSVSQRAG292fs|ZMYM3_ENST00000489332.1_5'UTR|ZMYM3_ENST00000373984.3_Frame_Shift_Del_p.LRSSVSQRAG294fs|ZMYM3_ENST00000373982.1_Frame_Shift_Del_p.LRSSVSQRAG294fs	NM_005096.3	NP_005087.1	Q14202	ZMYM3_HUMAN	zinc finger, MYM-type 3	292					cytoskeleton organization (GO:0007010)|multicellular organismal development (GO:0007275)|regulation of cell morphogenesis (GO:0022604)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(7)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(17)|ovary(1)|prostate(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(35;0.156)					CTGCAGAGCGCCCGGCCCTTTGTGACACACTTGAGCGTAGGGACATGCG	0.581																																						ENST00000373998.1																			0				breast(1)|central_nervous_system(7)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(17)|ovary(1)|prostate(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						c.(874-903)cfs		zinc finger, MYM-type 3																																				SO:0001589	frameshift_variant	9203				multicellular organismal development	nucleus	DNA binding|zinc ion binding	g.chrX:70470452_70470480delCCCGGCCCTTTGTGACACACTTGAGCGTA	AB002383	CCDS14409.1, CCDS55443.1, CCDS55444.1	Xq13.1	2013-01-08	2005-12-19	2005-12-19	ENSG00000147130	ENSG00000147130		"Zinc fingers, MYM type"	13054	protein-coding gene	gene with protein product		300061	"zinc finger protein 261"	ZNF261		10486218	Standard	NM_201599		Approved	ZNF198L2, DXS6673E, KIAA0385, MYM	uc004dzh.2	Q14202	OTTHUMG00000021799	ENST00000353904.2:c.875_903delTACGCTCAAGTGTGTCACAAAGGGCCGGG	X.37:g.70470452_70470480delCCCGGCCCTTTGTGACACACTTGAGCGTA	ENSP00000343909:p.Leu292fs					ZMYM3_ENST00000489332.1_5'UTR|ZMYM3_ENST00000373988.1_Frame_Shift_Del_p.LRSSVSQRAG294fs|ZMYM3_ENST00000373978.1_Intron|ZMYM3_ENST00000373981.1_Frame_Shift_Del_p.LRSSVSQRAG292fs|ZMYM3_ENST00000373984.3_Frame_Shift_Del_p.LRSSVSQRAG294fs|ZMYM3_ENST00000314425.5_Frame_Shift_Del_p.LRSSVSQRAG292fs|ZMYM3_ENST00000373982.1_Frame_Shift_Del_p.LRSSVSQRAG294fs|ZMYM3_ENST00000353904.2_Frame_Shift_Del_p.LRSSVSQRAG292fs	p.LRSSVSQRAG292fs	NM_001171162.1	NP_001164633.1	Q14202	ZMYM3_HUMAN			5	1572_1600	-	Renal(35;0.156)		292					D3DVV3|O15089|Q96E26	Frame_Shift_Del	DEL	ENST00000353904.2	37	c.875_903delTACGCTCAAGTGTGTCACAAAGGGCCGGG	CCDS14409.1																																																																																				0.581	ZMYM3-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000057154.1	NM_201599		2	4						2	4	---	---	---	---	-	70470480	CCCGGCCCTTTGTGACACACTTGAGCGTA	-	70470452	7	5	320	1	0	1	0	1	0	0	0	0	17698	726	26	0	3311	0	ZMYM3	23	70470452	Frame_Shift_Del	DEL	CCCGGCCCTTTGTGACACACTTGAGCGTA	TCGA-KK-A7AP-01A-12D-A33T-08		70470452	84800108	50	16449											
ABCD3	5825	broad.mit.edu	37	chr1	94946040	94946040	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcccagcgagcatgatggcCtacttggttgtttctgggct	5	12	14	10	1	1	1	0	1	1	0	1	2	1	1	2	4	3	4	2	4	1	4			TCGA-KK-A7AQ-01A-11D-A33T-08	TCGA-KK-A7AQ-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5232ee2-18b3-4257-8a61-5d460b11ee7e	fc1ad195-6261-4275-bed6-8d52f2622b1a	g.chr1:94946040C>A	ENST00000370214.4	+	9	729	c.705C>A	c.(703-705)gcC>gcA	p.A235A	ABCD3_ENST00000394233.2_Silent_p.A235A|ABCD3_ENST00000536817.1_Silent_p.A162A|ABCD3_ENST00000454898.2_Silent_p.A259A	NM_002858.3	NP_002849.1	P28288	ABCD3_HUMAN	ATP-binding cassette, sub-family D (ALD), member 3	235	ABC transmembrane type-1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				ATP catabolic process (GO:0006200)|fatty acid beta-oxidation (GO:0006635)|peroxisome organization (GO:0007031)|transmembrane transport (GO:0055085)|very long-chain fatty acid catabolic process (GO:0042760)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|protein homodimerization activity (GO:0042803)			breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(2)|lung(10)|ovary(1)|pancreas(1)|skin(2)	26		all_lung(203;0.000434)|Lung NSC(277;0.0019)		all cancers(265;0.0261)|Epithelial(280;0.165)		GCATGATGGCCTACTTGGTTG	0.363																																						ENST00000370214.4																			0				breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(2)|lung(10)|ovary(1)|pancreas(1)|skin(2)	26						c.(703-705)gcC>gcA		ATP-binding cassette, sub-family D (ALD), member 3							115	111	112					1																	94946040		2203	4300	6503	SO:0001819	synonymous_variant	5825				peroxisomal long-chain fatty acid import|peroxisome organization	cytosol|integral to peroxisomal membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr1:94946040C>A	M81182	CCDS749.1, CCDS44175.1	1p21.3	2012-05-16			ENSG00000117528	ENSG00000117528		"ATP binding cassette transporters / subfamily D"	67	protein-coding gene	gene with protein product		170995		PXMP1		1301993, 8449508	Standard	NM_002858		Approved	PMP70, ZWS2	uc001dqn.4	P28288	OTTHUMG00000010717	ENST00000370214.4:c.705C>A	1.37:g.94946040C>A						ABCD3_ENST00000454898.2_Silent_p.A259A|ABCD3_ENST00000536817.1_Silent_p.A162A|ABCD3_ENST00000394233.2_Silent_p.A235A	p.A235A	NM_002858.3	NP_002849.1	P28288	ABCD3_HUMAN		all cancers(265;0.0261)|Epithelial(280;0.165)	9	729	+		all_lung(203;0.000434)|Lung NSC(277;0.0019)	235			ABC transmembrane type-1.		D3DT46|Q15271|Q6NUN5|Q96DA3|Q9H529	Silent	SNP	ENST00000370214.4	37	c.705C>A	CCDS749.1																																																																																				0.363	ABCD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029597.1	NM_002858		31	52	1	0	8.4185e-14	1	8.77674e-14	31	52					A	94946040	C	A	94946040	2	1	321	1	0	0	0	0	0	0	0	1	62	668	24	5		5	ABCD3	1	94946040	Silent	SNP	C	TCGA-KK-A7AQ-01A-11D-A33T-08		94946040	154304581	1	16450											
KIRREL	55243	broad.mit.edu	37	chr1	158064789	158064789	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cccaccctctggcctggagcGgaccccatatgaggcgtatg	7	7	12	15	2	1	1	0	1	1	0	1	3	1	3	5	4	1	1	5	4	2	2	rs372675836		TCGA-KK-A7AQ-01A-11D-A33T-08	TCGA-KK-A7AQ-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5232ee2-18b3-4257-8a61-5d460b11ee7e	fc1ad195-6261-4275-bed6-8d52f2622b1a	g.chr1:158064789G>A	ENST00000359209.6	+	15	2220	c.2153G>A	c.(2152-2154)cGg>cAg	p.R718Q	KIRREL_ENST00000360089.4_Missense_Mutation_p.R554Q|KIRREL_ENST00000368173.3_Missense_Mutation_p.R734Q|KIRREL_ENST00000368172.1_Missense_Mutation_p.R532Q|KIRREL_ENST00000416935.2_Missense_Mutation_p.R618Q|KIRREL_ENST00000392272.2_Missense_Mutation_p.R615Q			Q96J84	KIRR1_HUMAN	kin of IRRE like (Drosophila)	718					excretion (GO:0007588)|negative regulation of protein phosphorylation (GO:0001933)|positive regulation of actin filament polymerization (GO:0030838)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|dendritic shaft (GO:0043198)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	myosin binding (GO:0017022)	p.R554Q(1)|p.R734Q(1)		NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(5)|skin(3)|stomach(1)	38	all_hematologic(112;0.0378)					GGCCTGGAGCGGACCCCATAT	0.617																																						ENST00000368172.1																			2	Substitution - Missense(2)	p.R554Q(1)|p.R734Q(1)	prostate(2)	NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(5)|skin(3)|stomach(1)	38						c.(1594-1596)cGg>cAg		kin of IRRE like (Drosophila)		G	GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	40	39	39		2153	4.5	1	1		39	0,8600		0,0,4300	no	missense	KIRREL	NM_018240.5	43	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	possibly-damaging	718/758	158064789	1,13005	2203	4300	6503	SO:0001583	missense	55243					integral to membrane		g.chr1:158064789G>A	AK001707	CCDS1172.2, CCDS72952.1	1q21-q25	2013-01-29			ENSG00000183853	ENSG00000183853		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	15734	protein-coding gene	gene with protein product	"nephrin-like protein 1"	607428				12424224	Standard	NM_001286349		Approved	NEPH1	uc001frn.4	Q96J84	OTTHUMG00000022438	ENST00000359209.6:c.2153G>A	1.37:g.158064789G>A	ENSP00000352138:p.Arg718Gln					KIRREL_ENST00000368173.3_Missense_Mutation_p.R734Q|KIRREL_ENST00000360089.4_Missense_Mutation_p.R554Q|KIRREL_ENST00000392272.2_Missense_Mutation_p.R615Q|KIRREL_ENST00000359209.6_Missense_Mutation_p.R718Q|KIRREL_ENST00000416935.2_Missense_Mutation_p.R618Q	p.R532Q			Q96J84	KIRR1_HUMAN			11	1607	+	all_hematologic(112;0.0378)		718					Q5W0F8|Q5XKC6|Q7Z696|Q7Z7N8|Q8TB15|Q9H9N1|Q9NVA5	Missense_Mutation	SNP	ENST00000359209.6	37	c.1595G>A	CCDS1172.2	.	.	.	.	.	.	.	.	.	.	G	17.25	3.342127	0.61073	2.27E-4	0.0	ENSG00000183853	ENST00000360089;ENST00000368173;ENST00000392272;ENST00000359209;ENST00000416935;ENST00000368172	T;T;T;T;T;T	0.68181	0.63;-0.31;0.31;0.06;0.14;0.49	4.47	4.47	0.54385	.	0.000000	0.40064	N	0.001197	T	0.33206	0.0855	N	0.24115	0.695	0.49798	D	0.99982	P;P;P;P	0.49961	0.93;0.93;0.839;0.93	B;B;B;B	0.32465	0.146;0.146;0.103;0.146	T	0.38650	-0.9651	10	0.38643	T	0.18	-22.8301	14.6803	0.69012	0.0:0.0:1.0:0.0	.	618;554;532;718	B4DN67;Q5W0F9;Q5W0G0;Q96J84	.;.;.;KIRR1_HUMAN	Q	554;734;615;718;618;532	ENSP00000353202:R554Q;ENSP00000357155:R734Q;ENSP00000376098:R615Q;ENSP00000352138:R718Q;ENSP00000389674:R618Q;ENSP00000357154:R532Q	ENSP00000352138:R718Q	R	+	2	0	KIRREL	156331413	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	4.221000	0.58574	2.319000	0.78375	0.561000	0.74099	CGG		0.617	KIRREL-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058342.3	NM_018240		4	13	0	0	0	1	0	4	13					A	158064789	G	A	158064789	3	1	321	1	0	0	0	0	1	0	0	0	8324	1116	39	2	2211	2	KIRREL	1	158064789	Missense_Mutation	SNP	G	TCGA-KK-A7AQ-01A-11D-A33T-08	63118749	158064789	91185832	2	16451											
TGFB2	7042	broad.mit.edu	37	chr1	218607454	218607454	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccaaagatttaacatctccaAcccagcgctacatcgacagc	14	7	5	15	2	1	1	0	0	1	1	3	2	1	1	3	0	5	1	3	0	4	3			TCGA-KK-A7AQ-01A-11D-A33T-08	TCGA-KK-A7AQ-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5232ee2-18b3-4257-8a61-5d460b11ee7e	fc1ad195-6261-4275-bed6-8d52f2622b1a	g.chr1:218607454A>G	ENST00000366930.4	+	3	1008	c.541A>G	c.(541-543)Acc>Gcc	p.T181A	TGFB2_ENST00000366929.4_Missense_Mutation_p.T209A	NM_003238.3	NP_003229.1	P61812	TGFB2_HUMAN	transforming growth factor, beta 2	181					activation of protein kinase activity (GO:0032147)|angiogenesis (GO:0001525)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|blood vessel remodeling (GO:0001974)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac muscle cell proliferation (GO:0060038)|cardioblast differentiation (GO:0010002)|cartilage condensation (GO:0001502)|catagen (GO:0042637)|cell cycle arrest (GO:0007050)|cell death (GO:0008219)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell morphogenesis (GO:0000902)|cell proliferation (GO:0008283)|cell-cell junction organization (GO:0045216)|cell-cell signaling (GO:0007267)|collagen fibril organization (GO:0030199)|dopamine biosynthetic process (GO:0042416)|embryo development (GO:0009790)|embryonic digestive tract development (GO:0048566)|epithelial to mesenchymal transition (GO:0001837)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway (GO:0097191)|eye development (GO:0001654)|face morphogenesis (GO:0060325)|generation of neurons (GO:0048699)|glial cell migration (GO:0008347)|hair follicle development (GO:0001942)|hair follicle morphogenesis (GO:0031069)|heart development (GO:0007507)|heart morphogenesis (GO:0003007)|hemopoiesis (GO:0030097)|menstrual cycle phase (GO:0022601)|negative regulation of alkaline phosphatase activity (GO:0010693)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of immune response (GO:0050777)|negative regulation of macrophage cytokine production (GO:0010936)|neuron development (GO:0048666)|neuron fate commitment (GO:0048663)|neutrophil chemotaxis (GO:0030593)|odontogenesis (GO:0042476)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of activation-induced cell death of T cells (GO:0070237)|positive regulation of cardioblast differentiation (GO:0051891)|positive regulation of catagen (GO:0051795)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell division (GO:0051781)|positive regulation of cell growth (GO:0030307)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of gene expression (GO:0010628)|positive regulation of heart contraction (GO:0045823)|positive regulation of immune response (GO:0050778)|positive regulation of integrin biosynthetic process (GO:0045726)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of ossification (GO:0045778)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein secretion (GO:0050714)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein phosphorylation (GO:0006468)|regulation of transforming growth factor beta2 production (GO:0032909)|response to drug (GO:0042493)|response to hypoxia (GO:0001666)|response to progesterone (GO:0032570)|response to wounding (GO:0009611)|salivary gland morphogenesis (GO:0007435)|signal transduction by phosphorylation (GO:0023014)|SMAD protein import into nucleus (GO:0007184)|somatic stem cell division (GO:0048103)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	axon (GO:0030424)|endosome (GO:0005768)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|neuronal cell body (GO:0043025)|platelet alpha granule lumen (GO:0031093)	beta-amyloid binding (GO:0001540)|cytokine activity (GO:0005125)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|transforming growth factor beta receptor binding (GO:0005160)|type II transforming growth factor beta receptor binding (GO:0005114)			breast(1)|endometrium(1)|large_intestine(11)|lung(15)|upper_aerodigestive_tract(2)|urinary_tract(1)	31				all cancers(67;0.0459)|OV - Ovarian serous cystadenocarcinoma(81;0.049)|GBM - Glioblastoma multiforme(131;0.0776)		AACATCTCCAACCCAGCGCTA	0.433																																						ENST00000366929.4																			0				breast(1)|endometrium(1)|large_intestine(11)|lung(15)|upper_aerodigestive_tract(2)|urinary_tract(1)	31						c.(625-627)Acc>Gcc		transforming growth factor, beta 2							195	200	198					1																	218607454		2203	4300	6503	SO:0001583	missense	7042				activation of protein kinase activity|angiogenesis|cardiac epithelial to mesenchymal transition|cardiac muscle cell proliferation|cardioblast differentiation|catagen|cell cycle arrest|cell death|cell growth|cell-cell junction organization|cell-cell signaling|collagen fibril organization|dopamine biosynthetic process|embryonic digestive tract development|eye development|glial cell migration|hair follicle morphogenesis|hemopoiesis|menstrual cycle phase|negative regulation of alkaline phosphatase activity|negative regulation of cell growth|negative regulation of epithelial cell proliferation|negative regulation of immune response|negative regulation of macrophage cytokine production|neuron development|neutrophil chemotaxis|odontogenesis|pathway-restricted SMAD protein phosphorylation|platelet activation|platelet degranulation|positive regulation of cardioblast differentiation|positive regulation of catagen|positive regulation of cell adhesion mediated by integrin|positive regulation of cell cycle|positive regulation of cell division|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of epithelial cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of heart contraction|positive regulation of immune response|positive regulation of integrin biosynthetic process|positive regulation of neuron apoptosis|positive regulation of ossification|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein secretion|positive regulation of stress-activated MAPK cascade|regulation of transforming growth factor-beta2 production|response to hypoxia|response to progesterone stimulus|salivary gland morphogenesis|SMAD protein import into nucleus|somatic stem cell division|transforming growth factor beta receptor signaling pathway	axon|extracellular matrix|extracellular space|neuronal cell body|platelet alpha granule lumen	beta-amyloid binding|cytokine activity|growth factor activity|protein heterodimerization activity|protein homodimerization activity|receptor signaling protein serine/threonine kinase activity|type II transforming growth factor beta receptor binding	g.chr1:218607454A>G	M19154	CCDS1521.1, CCDS44318.1	1q41	2014-01-30			ENSG00000092969	ENSG00000092969		"Endogenous ligands"	11768	protein-coding gene	gene with protein product	"prepro-transforming growth factor beta-2"	190220					Standard	NM_003238		Approved		uc001hln.3	P61812	OTTHUMG00000039521	ENST00000366930.4:c.541A>G	1.37:g.218607454A>G	ENSP00000355897:p.Thr181Ala					TGFB2_ENST00000366930.4_Missense_Mutation_p.T181A	p.T209A	NM_001135599.2	NP_001129071.1	P61812	TGFB2_HUMAN		all cancers(67;0.0459)|OV - Ovarian serous cystadenocarcinoma(81;0.049)|GBM - Glioblastoma multiforme(131;0.0776)	4	1092	+			181					B4DKC5|P08112|Q15579|Q15581|Q4VAV9	Missense_Mutation	SNP	ENST00000366930.4	37	c.625A>G	CCDS1521.1	.	.	.	.	.	.	.	.	.	.	A	15.60	2.882368	0.51908	.	.	ENSG00000092969	ENST00000366930;ENST00000366929	T;T	0.64438	-0.1;-0.1	5.91	4.79	0.61399	Transforming growth factor-beta, N-terminal (1);	0.139680	0.64402	D	0.000005	T	0.52273	0.1724	L	0.43923	1.385	0.45528	D	0.998485	B;B	0.21225	0.053;0.008	B;B	0.28916	0.096;0.021	T	0.40739	-0.9547	10	0.16420	T	0.52	.	9.6325	0.39787	0.8493:0.0:0.1507:0.0	.	209;181	P61812-2;P61812	.;TGFB2_HUMAN	A	181;209	ENSP00000355897:T181A;ENSP00000355896:T209A	ENSP00000355896:T209A	T	+	1	0	TGFB2	216674077	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.825000	0.69286	1.061000	0.40601	0.533000	0.62120	ACC		0.433	TGFB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095359.2	NM_003238		5	109	0	0	0	1	0	5	109					G	218607454	A	G	218607454	3	3	321	1	0	0	0	0	1	0	0	0	15815	43	2	4	639	4	TGFB2	1	218607454	Missense_Mutation	SNP	A	TCGA-KK-A7AQ-01A-11D-A33T-08	60542665	218607454	30643167	3	16452											
ASAP2	8853	broad.mit.edu	37	chr2	9475308	9475308	+	Splice_Site	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttgcaggttgaacagaaagaGgtgaggggatttaattttga	13	12	14	2	0	0	5	0	3	0	2	0	6	0	6	0	4	2	2	0	4	3	6			TCGA-KK-A7AQ-01A-11D-A33T-08	TCGA-KK-A7AQ-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5232ee2-18b3-4257-8a61-5d460b11ee7e	fc1ad195-6261-4275-bed6-8d52f2622b1a	g.chr2:9475308G>C	ENST00000281419.3	+	9	1189	c.849G>C	c.(847-849)gaG>gaC	p.E283D	ASAP2_ENST00000315273.4_Splice_Site_p.E283D	NM_003887.2	NP_003878.1	O43150	ASAP2_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 2	283					positive regulation of catalytic activity (GO:0043085)|regulation of ARF GTPase activity (GO:0032312)	Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	ARF GTPase activator activity (GO:0008060)|enzyme activator activity (GO:0008047)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	36						AACAGAAAGAGGTGAGGGGAT	0.413																																						ENST00000281419.3																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	36						c.e9+1		ArfGAP with SH3 domain, ankyrin repeat and PH domain 2							89	92	91					2																	9475308		2203	4300	6503	SO:0001630	splice_region_variant	8853				regulation of ARF GTPase activity	Golgi cisterna membrane|plasma membrane	ARF GTPase activator activity|protein binding|zinc ion binding	g.chr2:9475308G>C	AB007860	CCDS1661.1, CCDS46224.1	2p24	2013-01-10	2008-09-22	2008-09-22	ENSG00000151693	ENSG00000151693		"ADP-ribosylation factor GTPase activating proteins", "Pleckstrin homology (PH) domain containing", "Ankyrin repeat domain containing"	2721	protein-coding gene	gene with protein product	"centaurin, beta 3"	603817	"development and differentiation enhancing factor 2"	DDEF2		10022920, 9455477	Standard	NM_003887		Approved	KIAA0400, PAP, SHAG1, CENTB3	uc002qzh.2	O43150	OTTHUMG00000117485	ENST00000281419.3:c.849+1G>C	2.37:g.9475308G>C						ASAP2_ENST00000315273.4_Splice_Site_p.E283_splice	p.E283_splice	NM_003887.2	NP_003878.1	O43150	ASAP2_HUMAN			9	1189	+			283					D6W4Y8	Splice_Site	SNP	ENST00000281419.3	37	c.849_splice	CCDS1661.1	.	.	.	.	.	.	.	.	.	.	G	26.5	4.744470	0.89663	.	.	ENSG00000151693	ENST00000281419;ENST00000315273	T;T	0.57907	0.37;0.37	5.35	5.35	0.76521	.	0.095764	0.64402	D	0.000001	T	0.65165	0.2665	L	0.44542	1.39	0.80722	D	1	D;D	0.64830	0.994;0.994	D;D	0.70716	0.913;0.97	T	0.56601	-0.7952	10	0.22706	T	0.39	.	19.3055	0.94161	0.0:0.0:1.0:0.0	.	283;283	O43150-2;O43150	.;ASAP2_HUMAN	D	283	ENSP00000281419:E283D;ENSP00000316404:E283D	ENSP00000281419:E283D	E	+	3	2	ASAP2	9392759	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	8.975000	0.93437	2.784000	0.95788	0.638000	0.83543	GAG		0.413	ASAP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000237522.1	NM_003887	Missense_Mutation	5	43	0	0	0	1	0	5	43					C	9475308	G	C	9475308	5	2	321	1	0	0	0	0	0	0	1	0	1011	1014	35	5	883	5	ASAP2	2	9475308	Splice_Site	SNP	G	TCGA-KK-A7AQ-01A-11D-A33T-08		9475308	233724065	4	16453											
EMILIN1	11117	broad.mit.edu	37	chr2	27305360	27305360	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctgctccgtgtgcctggcCgggctagatggcttccgccg	2	10	14	15	4	0	1	0	0	0	1	3	1	3	1	6	3	2	3	6	3	1	2	rs369625702		TCGA-KK-A7AQ-01A-11D-A33T-08	TCGA-KK-A7AQ-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5232ee2-18b3-4257-8a61-5d460b11ee7e	fc1ad195-6261-4275-bed6-8d52f2622b1a	g.chr2:27305360C>T	ENST00000380320.4	+	4	1420	c.921C>T	c.(919-921)gcC>gcT	p.A307A		NM_007046.3	NP_008977	Q9Y6C2	EMIL1_HUMAN	elastin microfibril interfacer 1	307					cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	collagen trimer (GO:0005581)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix constituent conferring elasticity (GO:0030023)			breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(1)|lung(14)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	26	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGTGCCTGGCCGGGCTAGATG	0.721													C|||	1	0.000199681	0	0	5008	,	,		14727	0		0.001	False		,,,				2504	0					ENST00000380320.4																			0				breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(1)|lung(14)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	26						c.(919-921)gcC>gcT		elastin microfibril interfacer 1		C		0,4076		0,0,2038	5	7	6		921	-8	0.7	2		6	8,8110		0,8,4051	no	coding-synonymous	EMILIN1	NM_007046.3		0,8,6089	TT,TC,CC		0.0985,0.0,0.0656		307/1017	27305360	8,12186	2038	4059	6097	SO:0001819	synonymous_variant	11117				cell adhesion	collagen		g.chr2:27305360C>T	AF088916	CCDS1733.1	2p23.3-p23.2	2008-02-05			ENSG00000138080	ENSG00000138080		"EMI domain containing"	19880	protein-coding gene	gene with protein product		130660					Standard	NM_007046		Approved	DKFZp586M121, gp115	uc002rii.4	Q9Y6C2	OTTHUMG00000097069	ENST00000380320.4:c.921C>T	2.37:g.27305360C>T							p.A307A	NM_007046.3	NP_008977.1	Q9Y6C2	EMIL1_HUMAN			4	1420	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		307					A5PL03|H0Y7A0|Q53SY9|Q96G58|Q96IH6|Q9UG76	Silent	SNP	ENST00000380320.4	37	c.921C>T	CCDS1733.1																																																																																				0.721	EMILIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214185.1	NM_007046		4	3	0	0	0	1	0	4	3					T	27305360	C	T	27305360	2	4	321	1	0	0	0	0	0	0	0	1	5093	639	23	2		2	EMILIN1	2	27305360	Silent	SNP	C	TCGA-KK-A7AQ-01A-11D-A33T-08	17830052	27305360	215894013	5	16454											
TTN	7273	broad.mit.edu	37	chr2	179489271	179489271	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atatcctctggggtacagtcAtgtataacaagttttctgac	11	14	8	8	0	3	1	1	1	2	0	4	1	4	1	1	2	2	3	1	2	5	6			TCGA-KK-A7AQ-01A-11D-A33T-08	TCGA-KK-A7AQ-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5232ee2-18b3-4257-8a61-5d460b11ee7e	fc1ad195-6261-4275-bed6-8d52f2622b1a	g.chr2:179489271A>T	ENST00000591111.1	-	192	40037	c.39813T>A	c.(39811-39813)caT>caA	p.H13271Q	TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.H6039Q|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.H5972Q|TTN_ENST00000460472.2_Missense_Mutation_p.H5847Q|TTN_ENST00000589042.1_Missense_Mutation_p.H14912Q|TTN_ENST00000342992.6_Missense_Mutation_p.H12344Q			Q8WZ42	TITIN_HUMAN	titin	13271	Ig-like 88.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GGGTACAGTCATGTATAACAA	0.368																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(44734-44736)caT>caA		titin							127	126	126					2																	179489271		1888	4101	5989	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179489271A>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.39813T>A	2.37:g.179489271A>T	ENSP00000465570:p.His13271Gln					TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.H5972Q|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.H12344Q|TTN_ENST00000342175.6_Missense_Mutation_p.H6039Q|TTN_ENST00000460472.2_Missense_Mutation_p.H5847Q|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.H13271Q	p.H14912Q	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		242	44960	-			13271			Fibronectin type-III 8.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.44736T>A		.	.	.	.	.	.	.	.	.	.	A	9.286	1.049350	0.19827	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.64438	-0.1;-0.1;-0.1;-0.1	6.06	-8.66	0.00866	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.58637	0.2136	L	0.33137	0.985	0.30151	N	0.803063	P;P;P;P	0.50369	0.934;0.934;0.934;0.934	P;P;P;P	0.52909	0.713;0.713;0.713;0.713	T	0.70547	-0.4842	9	0.87932	D	0	.	15.8972	0.79344	0.4753:0.0:0.5247:0.0	.	5847;5972;6039;13271	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	Q	12344;5847;6039;5972;5847	ENSP00000343764:H12344Q;ENSP00000434586:H5847Q;ENSP00000340554:H6039Q;ENSP00000352154:H5972Q	ENSP00000340554:H6039Q	H	-	3	2	TTN	179197516	0.002000	0.14202	0.279000	0.24732	0.359000	0.29487	-0.948000	0.03897	-1.930000	0.01056	-2.896000	0.00094	CAT		0.368	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		24	49	0	0	0	1	0	24	49					T	179489271	A	T	179489271	3	4	321	1	0	0	0	0	1	0	0	0	16732	214	8	5	63441	5	TTN	2	179489271	Missense_Mutation	SNP	A	TCGA-KK-A7AQ-01A-11D-A33T-08	152183911	179489271	63710102	6	16455											
FSIP2	401024	broad.mit.edu	37	chr2	186678578	186678578	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gcacgagcagcctgaaaaaaTttttgtcactaagtaaatgt	15	11	8	7	1	1	1	1	1	0	0	1	2	1	1	1	0	2	3	1	0	6	4			TCGA-KK-A7AQ-01A-11D-A33T-08	TCGA-KK-A7AQ-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5232ee2-18b3-4257-8a61-5d460b11ee7e	fc1ad195-6261-4275-bed6-8d52f2622b1a	g.chr2:186678578T>A	ENST00000424728.1	+	18	20134	c.20134T>A	c.(20134-20136)Ttt>Att	p.F6712I	FSIP2_ENST00000343098.5_Missense_Mutation_p.F6801I			Q5CZC0	FSIP2_HUMAN	fibrous sheath interacting protein 2	6712										NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						CCTGAAAAAATTTTTGTCACT	0.373																																						ENST00000343098.5																			0				NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						c.(20401-20403)Ttt>Att		fibrous sheath interacting protein 2							82	79	80					2																	186678578		1869	4116	5985	SO:0001583	missense	401024							g.chr2:186678578T>A	AK092099	CCDS54426.1	2q32.1	2010-06-18			ENSG00000188738	ENSG00000188738			21675	protein-coding gene	gene with protein product		615796				14702039	Standard	NM_173651		Approved	FLJ34780	uc002upl.3	Q5CZC0	OTTHUMG00000153874	ENST00000424728.1:c.20134T>A	2.37:g.186678578T>A	ENSP00000401306:p.Phe6712Ile					FSIP2_ENST00000424728.1_Missense_Mutation_p.F6712I	p.F6801I	NM_173651.2	NP_775922.2					18	20401	+								Q53TL3|Q53TN5|Q5HYH2|Q6ZTZ5|Q6ZU14|Q6ZU21	Missense_Mutation	SNP	ENST00000424728.1	37	c.20401T>A		.	.	.	.	.	.	.	.	.	.	T	15.00	2.703511	0.48412	.	.	ENSG00000188738	ENST00000343098;ENST00000424728	T;T	0.47528	0.84;0.85	5.19	-8.35	0.00984	.	0.541627	0.16996	N	0.191112	T	0.31167	0.0788	L	0.36672	1.1	0.09310	N	1	.	.	.	.	.	.	T	0.25502	-1.0130	8	0.46703	T	0.11	.	5.3446	0.16002	0.1433:0.3158:0.0:0.5408	.	.	.	.	I	6801;6712	ENSP00000344403:F6801I;ENSP00000401306:F6712I	ENSP00000344403:F6801I	F	+	1	0	FSIP2	186386823	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.078000	0.03413	-1.431000	0.01982	-0.280000	0.10049	TTT		0.373	FSIP2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000332778.3	NM_173651		27	36	0	0	0	1	0	27	36					A	186678578	T	A	186678578	3	1	321	1	0	0	0	0	1	0	0	0	6075	1493	52	5	20471	5	FSIP2	2	186678578	Missense_Mutation	SNP	T	TCGA-KK-A7AQ-01A-11D-A33T-08	7189307	186678578	56520795	7	16456											
TMEFF2	23671	broad.mit.edu	37	chr2	192863838	192863838	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctcctgtttctgacacgaTgcttctttgatttggcatgc	5	18	8	10	1	3	2	0	2	3	0	4	3	3	2	1	1	2	3	1	1	0	5			TCGA-KK-A7AQ-01A-11D-A33T-08	TCGA-KK-A7AQ-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5232ee2-18b3-4257-8a61-5d460b11ee7e	fc1ad195-6261-4275-bed6-8d52f2622b1a	g.chr2:192863838T>C	ENST00000272771.5	-	6	1817	c.633A>G	c.(631-633)gcA>gcG	p.A211A	AC098617.1_ENST00000424116.2_RNA|AC098617.1_ENST00000428980.2_RNA|TMEFF2_ENST00000487771.1_5'UTR|TMEFF2_ENST00000392314.1_Silent_p.A211A	NM_016192.2	NP_057276.2	Q9UIK5	TEFF2_HUMAN	transmembrane protein with EGF-like and two follistatin-like domains 2	211	Kazal-like 2. {ECO:0000255|PROSITE- ProRule:PRU00798}.					extracellular region (GO:0005576)|integral component of membrane (GO:0016021)				breast(2)|cervix(1)|kidney(2)|large_intestine(4)|liver(1)|lung(12)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27			OV - Ovarian serous cystadenocarcinoma(117;0.0835)			TCTGACACGATGCTTCTTTGA	0.368																																					Pancreas(50;1277 1381 28487 47072)	ENST00000392314.1																			0				breast(2)|cervix(1)|kidney(2)|large_intestine(4)|liver(1)|lung(12)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						c.(631-633)gcA>gcG		transmembrane protein with EGF-like and two follistatin-like domains 2							152	141	145					2																	192863838		2203	4300	6503	SO:0001819	synonymous_variant	23671					extracellular region|integral to membrane		g.chr2:192863838T>C	AB017269	CCDS2314.1	2q32.3	2010-05-04			ENSG00000144339	ENSG00000144339			11867	protein-coding gene	gene with protein product	"transmembrane protein TENB2", "tomoregulin", "cancer/testis antigen family 120, member 2"	605734				10903839	Standard	NM_016192		Approved	TENB2, HPP1, TR, TPEF, CT120.2	uc002utc.3	Q9UIK5	OTTHUMG00000132723	ENST00000272771.5:c.633A>G	2.37:g.192863838T>C						AC098617.1_ENST00000424116.2_RNA|TMEFF2_ENST00000487771.1_5'UTR|AC098617.1_ENST00000428980.2_RNA|TMEFF2_ENST00000272771.5_Silent_p.A211A	p.A211A			Q9UIK5	TEFF2_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0835)		6	1024	-			211			Kazal-like 2.		Q2FA44|Q4ZFW4|Q53H90|Q53RE1|Q8N2R5|Q9NR15|Q9NSS5|Q9P2Y9|Q9UK65	Silent	SNP	ENST00000272771.5	37	c.633A>G	CCDS2314.1																																																																																				0.368	TMEFF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256065.2	NM_016192		28	47	0	0	0	1	0	28	47					C	192863838	T	C	192863838	2	2	321	1	0	0	0	0	0	0	0	1	16011	1451	51	4		4	TMEFF2	2	192863838	Silent	SNP	T	TCGA-KK-A7AQ-01A-11D-A33T-08	6185260	192863838	50335535	8	16457											
ZDBF2	57683	broad.mit.edu	37	chr2	207175936	207175936	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atcattagaaagtatatttcGaaatactctgtctttttacg	13	17	5	6	2	3	1	1	0	2	1	4	2	3	1	0	0	2	1	0	0	7	8			TCGA-KK-A7AQ-01A-11D-A33T-08	TCGA-KK-A7AQ-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5232ee2-18b3-4257-8a61-5d460b11ee7e	fc1ad195-6261-4275-bed6-8d52f2622b1a	g.chr2:207175936G>A	ENST00000374423.3	+	5	7070	c.6684G>A	c.(6682-6684)tcG>tcA	p.S2228S		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	2228							nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						AGTATATTTCGAAATACTCTG	0.363																																						ENST00000374423.3																			0				endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						c.(6682-6684)tcG>tcA		zinc finger, DBF-type containing 2							39	38	38					2																	207175936		1817	4076	5893	SO:0001819	synonymous_variant	57683						nucleic acid binding|zinc ion binding	g.chr2:207175936G>A	AB046791	CCDS46501.1, CCDS74637.1	2q33.3	2013-01-10			ENSG00000204186	ENSG00000204186		"Zinc fingers, DBF-type"	29313	protein-coding gene	gene with protein product						10997877	Standard	XM_005246711		Approved	FLJ45338, KIAA1571	uc002vbp.2	Q9HCK1	OTTHUMG00000154648	ENST00000374423.3:c.6684G>A	2.37:g.207175936G>A							p.S2228S	NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN			5	7070	+			2228					Q6ZNP7|Q6ZSN8	Silent	SNP	ENST00000374423.3	37	c.6684G>A	CCDS46501.1																																																																																				0.363	ZDBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336458.1	NM_020923		8	20	0	0	0	1	0	8	20					A	207175936	G	A	207175936	2	1	321	1	0	0	0	0	0	0	0	1	17596	1045	37	2		2	ZDBF2	2	207175936	Silent	SNP	G	TCGA-KK-A7AQ-01A-11D-A33T-08	14312098	207175936	36023437	9	16458											
ARPP21	10777	broad.mit.edu	37	chr3	35763243	35763243	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaagcccgccatgaccaagaCggcgagttttgggggcatca	11	6	13	11	3	1	2	1	1	0	1	1	3	1	2	3	3	1	2	3	3	2	2			TCGA-KK-A7AQ-01A-11D-A33T-08	TCGA-KK-A7AQ-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5232ee2-18b3-4257-8a61-5d460b11ee7e	fc1ad195-6261-4275-bed6-8d52f2622b1a	g.chr3:35763243C>T	ENST00000187397.4	+	14	1598	c.1142C>T	c.(1141-1143)aCg>aTg	p.T381M	ARPP21_ENST00000337271.5_Missense_Mutation_p.T327M|ARPP21_ENST00000417925.1_Missense_Mutation_p.T347M|ARPP21_ENST00000458225.1_Missense_Mutation_p.T347M|ARPP21_ENST00000444190.1_Missense_Mutation_p.T327M	NM_016300.4	NP_057384.2	Q9UBL0	ARP21_HUMAN	cAMP-regulated phosphoprotein, 21kDa	381	Ser-rich.				cellular response to heat (GO:0034605)	cytoplasm (GO:0005737)	nucleic acid binding (GO:0003676)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	61						ATGACCAAGACGGCGAGTTTT	0.542																																						ENST00000187397.4																			0				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	61						c.(1141-1143)aCg>aTg		cAMP-regulated phosphoprotein, 21kDa							49	41	43					3																	35763243		2203	4300	6503	SO:0001583	missense	10777					cytoplasm	nucleic acid binding	g.chr3:35763243C>T	AA733082	CCDS2661.1, CCDS43063.1, CCDS58823.1, CCDS58824.1	3p24.3	2010-08-12			ENSG00000172995	ENSG00000172995			16968	protein-coding gene	gene with protein product	"R3H domain containing 3"	605488				8120638	Standard	NM_198399		Approved	ARPP-21, TARPP, R3HDM3	uc011axy.2	Q9UBL0	OTTHUMG00000130795	ENST00000187397.4:c.1142C>T	3.37:g.35763243C>T	ENSP00000187397:p.Thr381Met					ARPP21_ENST00000458225.1_Missense_Mutation_p.T347M|ARPP21_ENST00000444190.1_Missense_Mutation_p.T327M|ARPP21_ENST00000417925.1_Missense_Mutation_p.T347M|ARPP21_ENST00000337271.5_Missense_Mutation_p.T327M	p.T381M	NM_016300.4	NP_057384.2	Q9UBL0	ARP21_HUMAN			14	1598	+			381			Ser-rich.		B4DG96|Q49AK3|Q49AS6|Q4G0V4|Q6NYC3|Q86V31|Q9UF93	Missense_Mutation	SNP	ENST00000187397.4	37	c.1142C>T	CCDS2661.1	.	.	.	.	.	.	.	.	.	.	C	33	5.223659	0.95139	.	.	ENSG00000172995	ENST00000458225;ENST00000337271;ENST00000444190;ENST00000187397;ENST00000417925	T;T;T;T;T	0.24723	1.87;1.88;1.88;1.84;1.87	5.75	5.75	0.90469	.	0.180265	0.49305	D	0.000150	T	0.48677	0.1513	L	0.51422	1.61	0.58432	D	0.999998	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.81914	0.993;0.989;0.995	T	0.38499	-0.9658	10	0.66056	D	0.02	-14.1888	19.9522	0.97203	0.0:1.0:0.0:0.0	.	347;381;327	Q9UBL0-3;Q9UBL0;Q9UBL0-4	.;ARP21_HUMAN;.	M	347;327;327;381;347	ENSP00000414351:T347M;ENSP00000337792:T327M;ENSP00000405276:T327M;ENSP00000187397:T381M;ENSP00000412326:T347M	ENSP00000187397:T381M	T	+	2	0	ARPP21	35738247	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.769000	0.85360	2.725000	0.93324	0.655000	0.94253	ACG		0.542	ARPP21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253334.2	NM_198399		12	24	0	0	0	1	0	12	24					T	35763243	C	T	35763243	3	4	321	1	0	0	0	0	1	0	0	0	978	536	19	1	1201	1	ARPP21	3	35763243	Missense_Mutation	SNP	C	TCGA-KK-A7AQ-01A-11D-A33T-08		35763243	162259187	10	16459											
RPL29	6159	broad.mit.edu	37	chr3	52027888	52027888	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ttggccttggcctttggccgGcacagcctgagccccttggc	3	10	13	15	1	0	1	0	1	0	0	0	1	0	1	6	5	2	1	6	5	0	4			TCGA-KK-A7AQ-01A-11D-A33T-08	TCGA-KK-A7AQ-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5232ee2-18b3-4257-8a61-5d460b11ee7e	fc1ad195-6261-4275-bed6-8d52f2622b1a	g.chr3:52027888G>A	ENST00000466397.1	-	4	497	c.357C>T	c.(355-357)tgC>tgT	p.C119C	RPL29_ENST00000294189.6_Silent_p.C119C|RPL29_ENST00000479017.1_Silent_p.C119C|RPL29_ENST00000475248.1_Silent_p.C119C|RPL29_ENST00000495383.1_Silent_p.C119C			P47914	RL29_HUMAN	ribosomal protein L29	119					cellular protein metabolic process (GO:0044267)|embryo implantation (GO:0007566)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|membrane (GO:0016020)	heparin binding (GO:0008201)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			lung(1)	1				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		cctttggccGGCACAGCCTGA	0.622																																						ENST00000466397.1																			0				lung(1)	1						c.(355-357)tgC>tgT		ribosomal protein L29							26	31	30					3																	52027888		1854	3590	5444	SO:0001819	synonymous_variant	6159				embryo implantation|endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	heparin binding|protein binding|RNA binding|structural constituent of ribosome	g.chr3:52027888G>A	U10248	CCDS2845.1	3p21.3-p21.2	2013-03-11			ENSG00000162244	ENSG00000162244		"L ribosomal proteins"	10331	protein-coding gene	gene with protein product	"60S ribosomal protein L29", "heparin/heparan sulfate-interacting protein", "HP/HS-interacting protein", "heparin/heparan sulfate-binding protein", "cell surface heparin-binding protein HIP"	601832	"ribosomal protein L29 pseudogene 10"	RPL29P10		8597591	Standard	NM_000992		Approved	HIP, HUMRPL29, L29	uc003dcs.3	P47914	OTTHUMG00000155262	ENST00000466397.1:c.357C>T	3.37:g.52027888G>A						RPL29_ENST00000479017.1_Silent_p.C119C|RPL29_ENST00000475248.1_Silent_p.C119C|RPL29_ENST00000294189.6_Silent_p.C119C|RPL29_ENST00000495383.1_Silent_p.C119C	p.C119C			P47914	RL29_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	4	497	-			119					A8K0H3|B2R4M8|Q6IPY3	Silent	SNP	ENST00000466397.1	37	c.357C>T	CCDS2845.1																																																																																				0.622	RPL29-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349680.2	NM_000992		3	37	0	0	0	1	0	3	37					A	52027888	G	A	52027888	2	1	321	1	0	0	0	0	0	0	0	1	13578	1195	42	3		3	RPL29	3	52027888	Silent	SNP	G	TCGA-KK-A7AQ-01A-11D-A33T-08	16264645	52027888	145994542	11	16460											
PRICKLE2	166336	broad.mit.edu	37	chr3	64085137	64085137	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggcctatcttttaaccgggAgatggcctcgcgttcgctgg	5	11	14	11	4	1	1	0	0	1	1	3	2	1	1	3	4	1	2	3	4	2	4			TCGA-KK-A7AQ-01A-11D-A33T-08	TCGA-KK-A7AQ-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5232ee2-18b3-4257-8a61-5d460b11ee7e	fc1ad195-6261-4275-bed6-8d52f2622b1a	g.chr3:64085137A>C	ENST00000295902.6	-	8	2710	c.2125T>G	c.(2125-2127)Tcc>Gcc	p.S709A	PRICKLE2-AS1_ENST00000476308.1_RNA|PRICKLE2_ENST00000564377.1_Missense_Mutation_p.S765A|PRICKLE2-AS1_ENST00000460946.1_RNA|RP11-129B22.1_ENST00000482609.1_RNA	NM_198859.3	NP_942559.1	Q7Z3G6	PRIC2_HUMAN	prickle homolog 2 (Drosophila)	709	Arg-rich.				establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|neuron projection development (GO:0031175)	apicolateral plasma membrane (GO:0016327)|cytoplasm (GO:0005737)|lateral plasma membrane (GO:0016328)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|large_intestine(9)|liver(1)|lung(10)|ovary(4)|prostate(2)|skin(2)|stomach(1)	32		Lung NSC(201;0.136)		BRCA - Breast invasive adenocarcinoma(55;0.000971)|KIRC - Kidney renal clear cell carcinoma(15;0.00443)|Kidney(15;0.00497)		TTTAACCGGGAGATGGCCTCG	0.637																																						ENST00000295902.6																			0				breast(2)|endometrium(1)|large_intestine(9)|liver(1)|lung(10)|ovary(4)|prostate(2)|skin(2)|stomach(1)	32						c.(2125-2127)Tcc>Gcc		prickle homolog 2 (Drosophila)							45	49	48					3																	64085137		2203	4300	6503	SO:0001583	missense	166336					cytoplasm|nuclear membrane	zinc ion binding	g.chr3:64085137A>C	AK127839	CCDS2902.1	3p14.3	2006-09-12	2006-09-12		ENSG00000163637	ENSG00000163637			20340	protein-coding gene	gene with protein product		608501	"prickle-like 2 (Drosophila)"			12525887	Standard	NM_198859		Approved	DKFZp686D143	uc003dmf.3	Q7Z3G6	OTTHUMG00000158789	ENST00000295902.6:c.2125T>G	3.37:g.64085137A>C	ENSP00000295902:p.Ser709Ala					PRICKLE2_ENST00000564377.1_Missense_Mutation_p.S765A|RP11-129B22.1_ENST00000482609.1_RNA|PRICKLE2-AS1_ENST00000476308.1_RNA	p.S709A	NM_198859.3	NP_942559.1	Q7Z3G6	PRIC2_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000971)|KIRC - Kidney renal clear cell carcinoma(15;0.00443)|Kidney(15;0.00497)	8	2710	-		Lung NSC(201;0.136)	709			Arg-rich.		Q0VF44	Missense_Mutation	SNP	ENST00000295902.6	37	c.2125T>G	CCDS2902.1	.	.	.	.	.	.	.	.	.	.	A	10.34	1.321955	0.23994	.	.	ENSG00000163637	ENST00000295902	T	0.58506	0.33	5.33	2.83	0.33086	.	0.533030	0.19530	N	0.112070	T	0.34948	0.0915	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.16394	-1.0404	10	0.09084	T	0.74	-5.4315	11.052	0.47896	0.6898:0.3102:0.0:0.0	.	709	Q7Z3G6	PRIC2_HUMAN	A	709	ENSP00000295902:S709A	ENSP00000295902:S709A	S	-	1	0	PRICKLE2	64060177	0.000000	0.05858	0.003000	0.11579	0.996000	0.88848	0.954000	0.29175	0.376000	0.24707	0.482000	0.46254	TCC		0.637	PRICKLE2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000352219.1	NM_198859		15	33	0	0	0	1	0	15	33					C	64085137	A	C	64085137	3	2	321	1	0	0	0	0	1	0	0	0	12487	304	11	5	413	5	PRICKLE2	3	64085137	Missense_Mutation	SNP	A	TCGA-KK-A7AQ-01A-11D-A33T-08	12057249	64085137	133937293	12	16461											
MYH15	22989	broad.mit.edu	37	chr3	108211370	108211370	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gaagctctttttgtccagatAgaatttgatagaatatgtgg	12	15	10	4	0	1	4	0	1	1	3	2	5	2	4	1	1	1	1	1	1	6	6			TCGA-KK-A7AQ-01A-11D-A33T-08	TCGA-KK-A7AQ-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5232ee2-18b3-4257-8a61-5d460b11ee7e	fc1ad195-6261-4275-bed6-8d52f2622b1a	g.chr3:108211370A>G	ENST00000273353.3	-	10	964	c.908T>C	c.(907-909)cTa>cCa	p.L303P		NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN	myosin, heavy chain 15	303	Myosin motor.					cytoplasm (GO:0005737)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						TTGTCCAGATAGAATTTGATA	0.368																																						ENST00000273353.3																			0				NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						c.(907-909)cTa>cCa		myosin, heavy chain 15							100	92	95					3																	108211370		1821	4084	5905	SO:0001583	missense	22989					myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity	g.chr3:108211370A>G	AB023217	CCDS43127.1	3q13	2011-09-27	2006-09-29		ENSG00000144821	ENSG00000144821		"Myosins / Myosin superfamily : Class II"	31073	protein-coding gene	gene with protein product		609929	"myosin, heavy polypeptide 15"			15014174, 15042088	Standard	NM_014981		Approved	KIAA1000	uc003dxa.1	Q9Y2K3	OTTHUMG00000159226	ENST00000273353.3:c.908T>C	3.37:g.108211370A>G	ENSP00000273353:p.Leu303Pro						p.L303P	NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN			10	964	-			303			Myosin head-like.			Missense_Mutation	SNP	ENST00000273353.3	37	c.908T>C	CCDS43127.1	.	.	.	.	.	.	.	.	.	.	A	15.40	2.822050	0.50739	.	.	ENSG00000144821	ENST00000273353	D	0.91996	-2.95	4.89	2.41	0.29592	Myosin head, motor domain (2);	.	.	.	.	D	0.97040	0.9033	H	0.97214	3.96	0.27084	N	0.963017	D	0.67145	0.996	D	0.73708	0.981	D	0.90647	0.4579	9	0.87932	D	0	.	9.3002	0.37840	0.8507:0.0:0.1493:0.0	.	303	Q9Y2K3	MYH15_HUMAN	P	303	ENSP00000273353:L303P	ENSP00000273353:L303P	L	-	2	0	MYH15	109694060	1.000000	0.71417	0.834000	0.33040	0.800000	0.45204	6.870000	0.75526	0.734000	0.32515	0.528000	0.53228	CTA		0.368	MYH15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353935.1	XM_036988		16	9	0	0	0	1	0	16	9					G	108211370	A	G	108211370	3	3	321	1	0	0	0	0	1	0	0	0	10034	420	15	4	5064	4	MYH15	3	108211370	Missense_Mutation	SNP	A	TCGA-KK-A7AQ-01A-11D-A33T-08	44126233	108211370	89811060	13	16462											
PCDH10	57575	broad.mit.edu	37	chr4	134073250	134073250	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggccaagcgcgacccccagcGgccttatgagctggtgatcg	7	6	14	14	4	0	2	0	2	0	0	1	3	0	2	4	3	3	1	4	3	2	1			TCGA-KK-A7AQ-01A-11D-A33T-08	TCGA-KK-A7AQ-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5232ee2-18b3-4257-8a61-5d460b11ee7e	fc1ad195-6261-4275-bed6-8d52f2622b1a	g.chr4:134073250G>A	ENST00000264360.5	+	1	2781	c.1955G>A	c.(1954-1956)cGg>cAg	p.R652Q	RP11-9G1.3_ENST00000505289.1_lincRNA	NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	652	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		GACCCCCAGCGGCCTTATGAG	0.677																																						ENST00000264360.4																			0				NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136						c.(1954-1956)cGg>cAg		protocadherin 10							21	25	23					4																	134073250		2188	4285	6473	SO:0001583	missense	57575				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:134073250G>A	AB037821	CCDS34063.1, CCDS75192.1	4q28.3	2010-01-26				ENSG00000138650		"Cadherins / Protocadherins : Non-clustered"	13404	protein-coding gene	gene with protein product		608286				10835267	Standard	NM_020815		Approved	OL-PCDH, KIAA1400	uc003iha.3	Q9P2E7		ENST00000264360.5:c.1955G>A	4.37:g.134073250G>A	ENSP00000264360:p.Arg652Gln						p.R652Q	NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN		LUSC - Lung squamous cell carcinoma(193;0.227)	1	2781	+			652			Cadherin 6.		Q4W5F6|Q96SF0	Missense_Mutation	SNP	ENST00000264360.5	37	c.1955G>A	CCDS34063.1	.	.	.	.	.	.	.	.	.	.	G	10.11	1.260709	0.23051	.	.	ENSG00000138650	ENST00000264360;ENST00000394248	T	0.51325	0.71	4.16	4.16	0.48862	Cadherin (4);Cadherin-like (1);	0.000000	0.39759	N	0.001264	T	0.24198	0.0586	N	0.10664	0.02	0.42677	D	0.99353	B;B	0.26363	0.147;0.147	B;B	0.17979	0.018;0.02	T	0.16988	-1.0384	10	0.02654	T	1	.	16.2467	0.82448	0.0:0.0:1.0:0.0	.	652;652	Q9P2E7;Q96SF0	PCD10_HUMAN;.	Q	652	ENSP00000264360:R652Q	ENSP00000264360:R652Q	R	+	2	0	PCDH10	134292700	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.708000	0.54845	2.137000	0.66172	0.563000	0.77884	CGG		0.677	PCDH10-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000364457.2	NM_032961		6	11	0	0	0	1	0	6	11					A	134073250	G	A	134073250	3	1	321	1	0	0	0	0	1	0	0	0	11507	1116	39	2	1957	2	PCDH10	4	134073250	Missense_Mutation	SNP	G	TCGA-KK-A7AQ-01A-11D-A33T-08		134073250	57081026	14	16463											
FBXL17	64839	broad.mit.edu	37	chr5	107356650	107356650	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	atctgtgattttacaggacaCcaaatatagctctttcaggt	12	14	7	8	0	3	1	1	1	2	0	3	2	3	2	1	2	2	1	1	2	4	5			TCGA-KK-A7AQ-01A-11D-A33T-08	TCGA-KK-A7AQ-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5232ee2-18b3-4257-8a61-5d460b11ee7e	fc1ad195-6261-4275-bed6-8d52f2622b1a	g.chr5:107356650C>T	ENST00000542267.1	-	7	2204	c.1798G>A	c.(1798-1800)Gtg>Atg	p.V600M	FBXL17_ENST00000359660.5_Missense_Mutation_p.V202M|FBXL17_ENST00000496714.1_Missense_Mutation_p.V202M	NM_001163315.2	NP_001156787.2	Q9UF56	FXL17_HUMAN	F-box and leucine-rich repeat protein 17	600										endometrium(1)|large_intestine(4)|lung(1)	6		all_cancers(142;0.00273)|all_epithelial(76;0.000362)|Prostate(80;0.0115)|Myeloproliferative disorder(839;0.0393)|Ovarian(225;0.232)		OV - Ovarian serous cystadenocarcinoma(64;9.63e-11)|Epithelial(69;4.02e-10)		TTACAGGACACCAAATATAGC	0.313																																						ENST00000542267.1																			0				endometrium(1)|large_intestine(4)|lung(1)	6						c.(1798-1800)Gtg>Atg		F-box and leucine-rich repeat protein 17							107	109	108					5																	107356650		2202	4300	6502	SO:0001583	missense	64839							g.chr5:107356650C>T	AL133602	CCDS54886.1	5q21.3	2011-06-09	2004-06-15	2004-06-16	ENSG00000145743	ENSG00000145743		"F-boxes / Leucine-rich repeats"	13615	protein-coding gene	gene with protein product		609083	"F-box only protein 13"	FBXO13			Standard	NM_001163315		Approved	DKFZP434C1715, Fbx13, Fbl17	uc011cvc.2	Q9UF56	OTTHUMG00000159785	ENST00000542267.1:c.1798G>A	5.37:g.107356650C>T	ENSP00000437464:p.Val600Met					FBXL17_ENST00000496714.1_Missense_Mutation_p.V202M|FBXL17_ENST00000359660.5_Missense_Mutation_p.V202M	p.V600M	NM_001163315.2	NP_001156787.2	Q9UF56	FXL17_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;9.63e-11)|Epithelial(69;4.02e-10)	7	2204	-		all_cancers(142;0.00273)|all_epithelial(76;0.000362)|Prostate(80;0.0115)|Myeloproliferative disorder(839;0.0393)|Ovarian(225;0.232)	600					A1A4E3	Missense_Mutation	SNP	ENST00000542267.1	37	c.1798G>A	CCDS54886.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.329836	0.81690	.	.	ENSG00000145743	ENST00000359660;ENST00000542267;ENST00000496714	T;T;T	0.02446	4.29;4.29;4.29	5.5	5.5	0.81552	.	0.257321	0.32401	N	0.006157	T	0.13457	0.0326	L	0.53249	1.67	0.42547	D	0.993092	D;D	0.89917	0.999;1.0	D;D	0.91635	0.997;0.999	T	0.00331	-1.1811	10	0.56958	D	0.05	.	19.3903	0.94578	0.0:1.0:0.0:0.0	.	600;202	Q9UF56;Q9UF56-2	FXL17_HUMAN;.	M	202;600;202	ENSP00000352683:V202M;ENSP00000437464:V600M;ENSP00000418111:V202M	ENSP00000352683:V202M	V	-	1	0	FBXL17	107384549	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	6.791000	0.75120	2.578000	0.87016	0.650000	0.86243	GTG		0.313	FBXL17-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				10	29	0	0	0	1	0	10	29					T	107356650	C	T	107356650	3	4	321	1	0	0	0	0	1	0	0	0	5713	507	18	3	319	3	FBXL17	5	107356650	Missense_Mutation	SNP	C	TCGA-KK-A7AQ-01A-11D-A33T-08		107356650	73558610	15	16464											
PCDHA13	56136	broad.mit.edu	37	chr5	140263149	140263149	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accgcgcgggacgggggctcGccttcgctgtgggccacggc	3	5	18	15	7	0	0	0	0	0	0	2	1	0	1	3	5	0	2	3	5	0	1			TCGA-KK-A7AQ-01A-11D-A33T-08	TCGA-KK-A7AQ-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5232ee2-18b3-4257-8a61-5d460b11ee7e	fc1ad195-6261-4275-bed6-8d52f2622b1a	g.chr5:140263149G>A	ENST00000289272.2	+	1	1296	c.1296G>A	c.(1294-1296)tcG>tcA	p.S432S	PCDHA4_ENST00000530339.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA13_ENST00000409494.1_Silent_p.S432S|PCDHA5_ENST00000529619.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529859.1_Intron	NM_018904.2|NM_031865.1	NP_061727.1|NP_114071.1	Q9Y5I0	PCDAD_HUMAN	protocadherin alpha 13	432	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|biliary_tract(2)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(18)|liver(3)|lung(23)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACGGGGGCTCGCCTTCGCTGT	0.657																																					Melanoma(147;1739 1852 5500 27947 37288)	ENST00000289272.2																			0				NS(1)|biliary_tract(2)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(18)|liver(3)|lung(23)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	95						c.(1294-1296)tcG>tcA									82	88	86					5																	140263149		2203	4300	6503	SO:0001819	synonymous_variant	0							g.chr5:140263149G>A	AF152478	CCDS4240.1	5q31	2010-11-26			ENSG00000239389	ENSG00000239389		"Cadherins / Protocadherins : Clustered"	8667	other	complex locus constituent	"KIAA0345-like 1", "ortholog of mouse CNR5"	606319		CNRS5		10380929, 10662547	Standard	NM_018904		Approved	CNR5, CRNR5, CNRN5, PCDH-ALPHA13		Q9Y5I0	OTTHUMG00000129614	ENST00000289272.2:c.1296G>A	5.37:g.140263149G>A						PCDHA6_ENST00000529310.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA13_ENST00000409494.1_Silent_p.S432S|PCDHA4_ENST00000512229.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529619.1_Intron	p.S432S	NM_018904.2|NM_031865.1	NP_061727.1|NP_114071.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1296	+								O75277	Silent	SNP	ENST00000289272.2	37	c.1296G>A	CCDS4240.1																																																																																				0.657	PCDHA13-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335000.1	NM_018904		5	137	0	0	0	1	0	5	137					A	140263149	G	A	140263149	2	1	321	1	0	0	0	0	0	0	0	1	11523	1074	38	1		1	PCDHA13	5	140263149	Silent	SNP	G	TCGA-KK-A7AQ-01A-11D-A33T-08	32906499	140263149	40652111	16	16465											
FLOT1	8870	broad.mit.edu	37	chr6	30708568	30708568	+	IGR	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agaatttctgcctgtccttaTagatctcctgtgataacagg	10	14	8	9	0	2	3	0	1	2	2	4	3	3	3	3	1	2	0	3	1	4	4			TCGA-KK-A7AQ-01A-11D-A33T-08	TCGA-KK-A7AQ-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5232ee2-18b3-4257-8a61-5d460b11ee7e	fc1ad195-6261-4275-bed6-8d52f2622b1a	g.chr6:30708568T>C	ENST00000259874.5	-	0	1244				XXbac-BPG252P9.10_ENST00000607333.1_RNA|FLOT1_ENST00000456573.2_Missense_Mutation_p.Y73C|FLOT1_ENST00000376389.3_Missense_Mutation_p.Y121C|FLOT1_ENST00000470643.1_5'UTR	NM_003897.3	NP_003888.2	P46695	IEX1_HUMAN	immediate early response 3						anatomical structure morphogenesis (GO:0009653)|apoptotic process (GO:0006915)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|mitotic G2 DNA damage checkpoint (GO:0007095)|negative regulation of apoptotic process (GO:0043066)|negative regulation of glycolytic process (GO:0045820)|negative regulation of inflammatory response (GO:0050728)|negative regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway (GO:1901029)|negative regulation of systemic arterial blood pressure (GO:0003085)|positive regulation of protein catabolic process (GO:0045732)|regulation of DNA repair (GO:0006282)|regulation of nucleocytoplasmic transport (GO:0046822)|regulation of reactive oxygen species metabolic process (GO:2000377)|regulation of response to DNA damage stimulus (GO:2001020)|response to protozoan (GO:0001562)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)				NS(1)	1						CCTGTCCTTATAGATCTCCTG	0.438																																						ENST00000376389.3																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|prostate(1)	13						c.(361-363)tAt>tGt		flotillin 1							143	139	140					6																	30708568		1511	2709	4220	SO:0001628	intergenic_variant	10211					centriolar satellite|endosome|integral to membrane|melanosome|membrane fraction		g.chr6:30708568T>C	AF083421	CCDS4689.1	6p21.3	2010-02-17			ENSG00000137331	ENSG00000137331			5392	protein-coding gene	gene with protein product		602996				8603392, 9703517	Standard	NM_003897		Approved	IEX-1, DIF-2, PRG1, IEX-1L	uc003nrn.3	P46695	OTTHUMG00000031265		6.37:g.30708568T>C						FLOT1_ENST00000470643.1_5'UTR|FLOT1_ENST00000456573.2_Missense_Mutation_p.Y73C	p.Y121C	NM_005803.2	NP_005794.1	O75955	FLOT1_HUMAN			6	582	-			121					Q5SU30|Q92691|Q93044	Missense_Mutation	SNP	ENST00000259874.5	37	c.362A>G	CCDS4689.1	.	.	.	.	.	.	.	.	.	.	T	14.66	2.602873	0.46423	.	.	ENSG00000137312	ENST00000376389;ENST00000456573;ENST00000413165;ENST00000438162;ENST00000445853;ENST00000416018;ENST00000454845	D;D;D;D;D;D;D	0.95171	-3.63;-3.63;-3.63;-3.63;-3.63;-3.63;-3.63	5.07	5.07	0.68467	.	0.063664	0.64402	D	0.000004	D	0.95274	0.8467	M	0.93720	3.45	0.54753	D	0.999985	B;P	0.35401	0.452;0.499	B;B	0.44224	0.405;0.444	D	0.96285	0.9209	10	0.87932	D	0	-16.2983	9.0066	0.36115	0.0:0.0:0.1864:0.8136	.	73;121	B4DVY7;O75955	.;FLOT1_HUMAN	C	121;73;58;121;121;105;121	ENSP00000365569:Y121C;ENSP00000394375:Y73C;ENSP00000395333:Y58C;ENSP00000400615:Y121C;ENSP00000398834:Y121C;ENSP00000412058:Y105C;ENSP00000391341:Y121C	ENSP00000365569:Y121C	Y	-	2	0	FLOT1	30816547	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.648000	0.83479	2.141000	0.66446	0.533000	0.62120	TAT		0.438	IER3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076578.2			5	57	0	0	0	1	0	5	57					C	30708568	T	C	30708568	1	2	321	0	1	0	0	0	0	0	0	0	5936	1406	49	4		4	FLOT1	6	30708568	IGR	SNP	T	TCGA-KK-A7AQ-01A-11D-A33T-08		30708568	140406499	17	16466											
RFX6	222546	broad.mit.edu	37	chr6	117241512	117241512	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgaccagcatgtcgttaatTctatggtgtctgatattgaa	10	16	9	6	1	2	3	0	3	2	0	3	3	2	3	1	1	1	2	1	1	4	6			TCGA-KK-A7AQ-01A-11D-A33T-08	TCGA-KK-A7AQ-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5232ee2-18b3-4257-8a61-5d460b11ee7e	fc1ad195-6261-4275-bed6-8d52f2622b1a	g.chr6:117241512T>C	ENST00000332958.2	+	12	1238	c.1222T>C	c.(1222-1224)Tct>Cct	p.S408P		NM_173560.3	NP_775831.2	Q8HWS3	RFX6_HUMAN	regulatory factor X, 6	408					endocrine pancreas development (GO:0031018)|glucose homeostasis (GO:0042593)|pancreatic A cell differentiation (GO:0003310)|pancreatic D cell differentiation (GO:0003311)|pancreatic epsilon cell differentiation (GO:0090104)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of insulin secretion (GO:0050796)|transcription, DNA-templated (GO:0006351)|type B pancreatic cell differentiation (GO:0003309)	nucleus (GO:0005634)	transcription regulatory region DNA binding (GO:0044212)			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	59						TGTCGTTAATTCTATGGTGTC	0.398																																						ENST00000332958.2																			0				cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	59						c.(1222-1224)Tct>Cct		regulatory factor X, 6							215	194	201					6																	117241512		2203	4300	6503	SO:0001583	missense	222546				glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation	nucleus	protein binding|transcription regulatory region DNA binding	g.chr6:117241512T>C	BC039248	CCDS5113.1	6q22.31	2008-08-04	2008-08-04	2008-08-04	ENSG00000185002	ENSG00000185002			21478	protein-coding gene	gene with protein product		612659	"regulatory factor X domain containing 1"	RFXDC1			Standard	NM_173560		Approved	MGC33442, dJ955L16.1	uc003pxm.3	Q8HWS3	OTTHUMG00000015449	ENST00000332958.2:c.1222T>C	6.37:g.117241512T>C	ENSP00000332208:p.Ser408Pro						p.S408P	NM_173560.3	NP_775831.2	Q8HWS3	RFX6_HUMAN			12	1238	+			408					Q5T6B3	Missense_Mutation	SNP	ENST00000332958.2	37	c.1222T>C	CCDS5113.1	.	.	.	.	.	.	.	.	.	.	T	13.00	2.105267	0.37145	.	.	ENSG00000185002	ENST00000332958	T	0.56941	0.43	5.62	3.17	0.36434	.	0.291447	0.38492	N	0.001666	T	0.22360	0.0539	L	0.33485	1.01	0.39391	D	0.966429	P	0.37176	0.586	B	0.31245	0.126	T	0.03231	-1.1058	10	0.41790	T	0.15	-11.2303	12.9418	0.58350	0.0:0.0:0.4019:0.5981	.	408	Q8HWS3	RFX6_HUMAN	P	408	ENSP00000332208:S408P	ENSP00000332208:S408P	S	+	1	0	RFX6	117348205	1.000000	0.71417	0.995000	0.50966	0.682000	0.39822	2.514000	0.45503	0.378000	0.24764	-0.313000	0.08912	TCT		0.398	RFX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041970.2	NM_173560		8	80	0	0	0	1	0	8	80					C	117241512	T	C	117241512	3	2	321	1	0	0	0	0	1	0	0	0	13267	1783	62	4	1268	4	RFX6	6	117241512	Missense_Mutation	SNP	T	TCGA-KK-A7AQ-01A-11D-A33T-08	86532944	117241512	53873555	18	16467											
CALCR	799	broad.mit.edu	37	chr7	93090147	93090147	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acttaccgggtcccttcgcaCgagctctccattgggtacta	7	11	9	14	3	1	0	0	0	1	0	4	1	2	0	3	2	3	3	3	2	3	5			TCGA-KK-A7AQ-01A-11D-A33T-08	TCGA-KK-A7AQ-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5232ee2-18b3-4257-8a61-5d460b11ee7e	fc1ad195-6261-4275-bed6-8d52f2622b1a	g.chr7:93090147C>T	ENST00000394441.1	-	7	949	c.634G>A	c.(634-636)Gtg>Atg	p.V212M	CALCR_ENST00000359558.2_Missense_Mutation_p.V246M|CALCR_ENST00000421592.1_Missense_Mutation_p.V228M|CALCR_ENST00000360249.4_Missense_Mutation_p.V228M|CALCR_ENST00000426151.1_Missense_Mutation_p.V212M	NM_001164738.1	NP_001158210.1	P30988	CALCR_HUMAN	calcitonin receptor	246					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|protein localization to plasma membrane (GO:0072659)|protein transport (GO:0015031)|receptor internalization (GO:0031623)|response to glucocorticoid (GO:0051384)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcitonin binding (GO:0032841)|calcitonin receptor activity (GO:0004948)|protein transporter activity (GO:0008565)|receptor activity (GO:0004872)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(3)	45	all_cancers(62;3.18e-12)|all_epithelial(64;1.34e-11)|Breast(17;0.000675)|Lung NSC(181;0.207)		STAD - Stomach adenocarcinoma(171;0.000244)		Pramlintide(DB01278)|Salmon Calcitonin(DB00017)	TCCCTTCGCACGAGCTCTCCA	0.383																																						ENST00000359558.2																			0				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(3)	45						c.(736-738)Gtg>Atg		calcitonin receptor	Salmon Calcitonin(DB00017)						122	120	121					7																	93090147		2203	4300	6503	SO:0001583	missense	799				activation of adenylate cyclase activity by G-protein signaling pathway|elevation of cytosolic calcium ion concentration|positive regulation of adenylate cyclase activity|response to glucocorticoid stimulus	integral to plasma membrane	calcitonin binding|calcitonin receptor activity|protein binding	g.chr7:93090147C>T	L00587	CCDS5631.1, CCDS55125.1	7q21.3	2012-08-10			ENSG00000004948	ENSG00000004948		"GPCR / Class B : Calcitonin receptors"	1440	protein-coding gene	gene with protein product		114131				1331173	Standard	NM_001742		Approved	CTR	uc003umw.2	P30988	OTTHUMG00000023599	ENST00000394441.1:c.634G>A	7.37:g.93090147C>T	ENSP00000377959:p.Val212Met					CALCR_ENST00000394441.1_Missense_Mutation_p.V212M|CALCR_ENST00000360249.4_Missense_Mutation_p.V228M|CALCR_ENST00000421592.1_Missense_Mutation_p.V228M|CALCR_ENST00000426151.1_Missense_Mutation_p.V212M	p.V246M	NM_001164737.1	NP_001158209.1	P30988	CALCR_HUMAN	STAD - Stomach adenocarcinoma(171;0.000244)		10	1035	-	all_cancers(62;3.18e-12)|all_epithelial(64;1.34e-11)|Breast(17;0.000675)|Lung NSC(181;0.207)		228					A4D1G6|F5H605|O14585|Q13941|Q5ZGL8|Q659U6|Q6DJU8|Q6T712	Missense_Mutation	SNP	ENST00000394441.1	37	c.736G>A	CCDS5631.1	.	.	.	.	.	.	.	.	.	.	C	18.17	3.564224	0.65651	.	.	ENSG00000004948	ENST00000359558;ENST00000360249;ENST00000421592;ENST00000394441;ENST00000426151	T;T;T;T;T	0.37411	1.2;1.2;1.2;1.2;1.2	5.44	4.56	0.56223	.	.	.	.	.	T	0.53286	0.1787	L	0.54965	1.715	0.58432	D	0.999991	D;D	0.89917	1.0;0.999	D;D	0.75484	0.986;0.986	T	0.52756	-0.8533	9	0.46703	T	0.11	.	13.1172	0.59307	0.0:0.9218:0.0:0.0781	.	246;212	F5H605;A4D1G6	.;.	M	246;228;228;212;212	ENSP00000352561:V246M;ENSP00000353385:V228M;ENSP00000399552:V228M;ENSP00000377959:V212M;ENSP00000389295:V212M	ENSP00000352561:V246M	V	-	1	0	CALCR	92928083	1.000000	0.71417	0.263000	0.24496	0.773000	0.43773	5.070000	0.64376	1.440000	0.47531	0.555000	0.69702	GTG		0.383	CALCR-002	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254661.2	NM_001742		39	68	0	0	0	1	0	39	68					T	93090147	C	T	93090147	3	4	321	1	0	0	0	0	1	0	0	0	2579	536	19	1	818	1	CALCR	7	93090147	Missense_Mutation	SNP	C	TCGA-KK-A7AQ-01A-11D-A33T-08		93090147	66048516	19	16468											
ZSCAN21	7589	broad.mit.edu	37	chr7	99661891	99661891	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagaatgcacacagaagaggCgccatatcagtgcaaagatt	16	6	11	8	1	1	4	1	0	0	4	1	5	1	4	1	1	2	2	1	1	4	2			TCGA-KK-A7AQ-01A-11D-A33T-08	TCGA-KK-A7AQ-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5232ee2-18b3-4257-8a61-5d460b11ee7e	fc1ad195-6261-4275-bed6-8d52f2622b1a	g.chr7:99661891C>T	ENST00000292450.4	+	4	1237	c.1073C>T	c.(1072-1074)gCg>gTg	p.A358V	ZSCAN21_ENST00000456748.2_Missense_Mutation_p.R324C|ZSCAN21_ENST00000543588.1_Missense_Mutation_p.R324C|ZNF3_ENST00000413658.2_3'UTR	NM_145914.2	NP_666019.1	Q9Y5A6	ZSC21_HUMAN	zinc finger and SCAN domain containing 21	358					positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|skin(1)	21	Lung NSC(181;0.0211)|all_lung(186;0.0323)|Esophageal squamous(72;0.0439)		STAD - Stomach adenocarcinoma(171;0.129)			ACAGAAGAGGCGCCATATCAG	0.498																																						ENST00000292450.4																			0				breast(1)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|skin(1)	21						c.(1072-1074)gCg>gTg		zinc finger and SCAN domain containing 21							67	67	67					7																	99661891		2203	4300	6503	SO:0001583	missense	7589				positive regulation of transcription, DNA-dependent|viral reproduction	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr7:99661891C>T	AL136865	CCDS5681.1	7q11.1	2013-01-08	2006-10-06	2006-10-06	ENSG00000166529	ENSG00000166529		"-", "Zinc fingers, C2H2-type"	13104	protein-coding gene	gene with protein product		601261	"zinc finger protein 38 (KOX 25)", "zinc finger protein 38"	ZNF38		2288909, 2014798	Standard	NM_145914		Approved	DKFZp434L134, NY-REN-21, Zipro1	uc003uso.3	Q9Y5A6	OTTHUMG00000154583	ENST00000292450.4:c.1073C>T	7.37:g.99661891C>T	ENSP00000292450:p.Ala358Val					ZSCAN21_ENST00000543588.1_Missense_Mutation_p.R324C|ZNF3_ENST00000413658.2_3'UTR|ZSCAN21_ENST00000456748.2_Missense_Mutation_p.R324C	p.A358V	NM_145914.2	NP_666019.1	Q9Y5A6	ZSC21_HUMAN	STAD - Stomach adenocarcinoma(171;0.129)		4	1237	+	Lung NSC(181;0.0211)|all_lung(186;0.0323)|Esophageal squamous(72;0.0439)		358					A4D2A6|D6W5T9|Q9H0B5	Missense_Mutation	SNP	ENST00000292450.4	37	c.1073C>T	CCDS5681.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.01|18.01	3.527952|3.527952	0.64860|0.64860	.|.	.|.	ENSG00000166529|ENSG00000166529	ENST00000292450;ENST00000379635|ENST00000543588;ENST00000456748	T|T;T	0.18016|0.02301	2.24|4.35;4.35	4.52|4.52	4.52|4.52	0.55395|0.55395	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);|.	0.000000|.	0.41823|.	D|.	0.000813|.	T|T	0.01940|0.01940	0.0061|0.0061	N|N	0.12502|0.12502	0.225|0.225	0.80722|0.80722	D|D	1|1	D|P	0.67145|0.49447	0.996|0.924	P|B	0.58130|0.43123	0.833|0.409	T|T	0.64508|0.64508	-0.6391|-0.6391	10|9	0.87932|0.66056	D|D	0|0.02	.|.	10.2257|10.2257	0.43225|0.43225	0.1979:0.8021:0.0:0.0|0.1979:0.8021:0.0:0.0	.|.	358|324	Q9Y5A6|G3V1M0	ZSC21_HUMAN|.	V|C	358;333|324	ENSP00000292450:A358V|ENSP00000441212:R324C;ENSP00000390960:R324C	ENSP00000292450:A358V|ENSP00000390960:R324C	A|R	+|+	2|1	0|0	ZSCAN21|ZSCAN21	99499827|99499827	0.002000|0.002000	0.14202|0.14202	0.953000|0.953000	0.39169|0.39169	0.426000|0.426000	0.31534|0.31534	1.135000|1.135000	0.31454|0.31454	2.524000|2.524000	0.85096|0.85096	0.655000|0.655000	0.94253|0.94253	GCG|CGC		0.498	ZSCAN21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336166.1	NM_145914		25	26	0	0	0	1	0	25	26					T	99661891	C	T	99661891	3	4	321	1	0	0	0	0	1	0	0	0	18230	768	27	1	1083	1	ZSCAN21	7	99661891	Missense_Mutation	SNP	C	TCGA-KK-A7AQ-01A-11D-A33T-08	6571744	99661891	59476772	20	16469											
YWHAZ	7534	broad.mit.edu	37	chr8	101960982	101960982	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tacaacatttttataagcaaCtgagagaagattcctctcct	14	13	5	9	0	1	3	0	1	1	2	3	4	2	3	2	0	4	1	2	0	6	6			TCGA-KK-A7AQ-01A-11D-A33T-08	TCGA-KK-A7AQ-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5232ee2-18b3-4257-8a61-5d460b11ee7e	fc1ad195-6261-4275-bed6-8d52f2622b1a	g.chr8:101960982C>A	ENST00000395957.2	-	3	477	c.136G>T	c.(136-138)Gtt>Ttt	p.V46F	YWHAZ_ENST00000522542.1_5'Flank|YWHAZ_ENST00000395948.2_Intron|YWHAZ_ENST00000353245.3_Missense_Mutation_p.V46F|YWHAZ_ENST00000395956.3_Missense_Mutation_p.V46F|YWHAZ_ENST00000395951.3_Missense_Mutation_p.V46F|YWHAZ_ENST00000419477.2_Missense_Mutation_p.V46F|YWHAZ_ENST00000395953.2_Missense_Mutation_p.V46F|YWHAZ_ENST00000457309.1_Missense_Mutation_p.V46F|YWHAZ_ENST00000521309.1_Intron|YWHAZ_ENST00000395958.2_Missense_Mutation_p.V46F			P63104	1433Z_HUMAN	tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, zeta	46					apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|gene expression (GO:0010467)|histamine secretion by mast cell (GO:0002553)|intrinsic apoptotic signaling pathway (GO:0097193)|membrane organization (GO:0061024)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|platelet activation (GO:0030168)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|protein targeting to mitochondrion (GO:0006626)|response to drug (GO:0042493)|RNA metabolic process (GO:0016070)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|mast cell granule (GO:0042629)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|postsynaptic density (GO:0014069)|protein complex (GO:0043234)	identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|transcription factor binding (GO:0008134)			large_intestine(1)|lung(2)	3	all_cancers(14;7.43e-06)|all_epithelial(15;2.77e-08)|Lung NSC(17;6.08e-05)|all_lung(17;0.000197)		Epithelial(11;2.79e-11)|all cancers(13;5.45e-09)|OV - Ovarian serous cystadenocarcinoma(57;4.75e-05)			TTATAAGCAACTGAGAGAAGA	0.473																																						ENST00000395957.2																			0				large_intestine(1)|lung(2)	3						c.(136-138)Gtt>Ttt		tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, zeta polypeptide	Ginkgo biloba(DB01381)						44	49	47					8																	101960982		2195	4288	6483	SO:0001583	missense	7534				anti-apoptosis|mRNA metabolic process|platelet activation|signal transduction	cytosol|melanosome	transcription factor binding	g.chr8:101960982C>A	U28964	CCDS6290.1	8q22.3	2013-12-03	2013-12-03		ENSG00000164924	ENSG00000164924			12855	protein-coding gene	gene with protein product	"14-3-3 zeta", "14-3-3 delta"	601288	"tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, delta polypeptide", "tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, zeta polypeptide"	YWHAD		8617504, 7890696	Standard	NM_003406		Approved	KCIP-1, 14-3-3-zeta	uc010mbr.2	P63104	OTTHUMG00000134291	ENST00000395957.2:c.136G>T	8.37:g.101960982C>A	ENSP00000379287:p.Val46Phe					YWHAZ_ENST00000419477.2_Missense_Mutation_p.V46F|YWHAZ_ENST00000395951.3_Missense_Mutation_p.V46F|YWHAZ_ENST00000395953.2_Missense_Mutation_p.V46F|YWHAZ_ENST00000395956.3_Missense_Mutation_p.V46F|YWHAZ_ENST00000395958.2_Missense_Mutation_p.V46F|YWHAZ_ENST00000395948.2_Intron|YWHAZ_ENST00000353245.3_Missense_Mutation_p.V46F|YWHAZ_ENST00000521309.1_Intron|YWHAZ_ENST00000457309.1_Missense_Mutation_p.V46F	p.V46F			P63104	1433Z_HUMAN	Epithelial(11;2.79e-11)|all cancers(13;5.45e-09)|OV - Ovarian serous cystadenocarcinoma(57;4.75e-05)		3	477	-	all_cancers(14;7.43e-06)|all_epithelial(15;2.77e-08)|Lung NSC(17;6.08e-05)|all_lung(17;0.000197)		46					A8K1N0|B7Z465|P29213|P29312|Q32P43|Q5XJ08|Q6GPI2|Q6IN74|Q6NUR9|Q6P3U9|Q86V33	Missense_Mutation	SNP	ENST00000395957.2	37	c.136G>T	CCDS6290.1	.	.	.	.	.	.	.	.	.	.	C	28.7	4.940437	0.92526	.	.	ENSG00000164924	ENST00000395957;ENST00000457309;ENST00000395958;ENST00000395956;ENST00000353245;ENST00000395953;ENST00000395951;ENST00000419477;ENST00000521607;ENST00000521328;ENST00000418997;ENST00000437293;ENST00000523131;ENST00000523938	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.54071	0.59;0.59;0.59;0.59;0.59;0.59;0.59;0.59;0.59;0.59;0.59;0.59;0.59;0.59	5.5	5.5	0.81552	14-3-3 protein, conserved site (1);14-3-3 domain (4);	0.000000	0.64402	D	0.000016	T	0.81870	0.4914	H	0.95884	3.735	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.68765	0.96;0.96	D	0.87612	0.2504	10	0.87932	D	0	.	19.4636	0.94929	0.0:1.0:0.0:0.0	.	46;46	D0PNI1;P63104	.;1433Z_HUMAN	F	46	ENSP00000379287:V46F;ENSP00000398599:V46F;ENSP00000379288:V46F;ENSP00000379286:V46F;ENSP00000309503:V46F;ENSP00000379283:V46F;ENSP00000379281:V46F;ENSP00000395114:V46F;ENSP00000430058:V46F;ENSP00000429041:V46F;ENSP00000416551:V46F;ENSP00000394880:V46F;ENSP00000428381:V46F;ENSP00000430219:V46F	ENSP00000309503:V46F	V	-	1	0	YWHAZ	102030158	1.000000	0.71417	0.986000	0.45419	0.984000	0.73092	7.773000	0.85462	2.597000	0.87782	0.650000	0.86243	GTT		0.473	YWHAZ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259017.2	NM_145690		4	91	1	0	0.00909568	1	0.00909568	4	91					A	101960982	C	A	101960982	3	1	321	1	0	0	0	0	1	0	0	0	17503	565	20	5	621	5	YWHAZ	8	101960982	Missense_Mutation	SNP	C	TCGA-KK-A7AQ-01A-11D-A33T-08		101960982	44403040	21	16470											
TAF1L	138474	broad.mit.edu	37	chr9	32633777	32633777	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	aatattccctccaaaggtgcCccgaagaccctgttgcttgg	9	10	9	13	1	0	1	0	0	0	1	2	2	2	1	5	2	2	2	5	2	4	4			TCGA-KK-A7AQ-01A-11D-A33T-08	TCGA-KK-A7AQ-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5232ee2-18b3-4257-8a61-5d460b11ee7e	fc1ad195-6261-4275-bed6-8d52f2622b1a	g.chr9:32633777C>T	ENST00000242310.4	-	1	1890	c.1801G>A	c.(1801-1803)Ggc>Agc	p.G601S	RP11-555J4.4_ENST00000430787.1_RNA	NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	601					DNA-templated transcription, initiation (GO:0006352)|histone acetylation (GO:0016573)|male meiosis (GO:0007140)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	transcription factor TFIID complex (GO:0005669)	DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine-acetylated histone binding (GO:0070577)|protein serine/threonine kinase activity (GO:0004674)|TBP-class protein binding (GO:0017025)			breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		CCAAAGGTGCCCCGAAGACCC	0.488																																						ENST00000242310.4																			0				breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159						c.(1801-1803)Ggc>Agc		TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like							151	159	156					9																	32633777		2203	4300	6503	SO:0001583	missense	138474				male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding	g.chr9:32633777C>T	AF390562	CCDS35003.1	9p12	2007-07-27	2007-07-27		ENSG00000122728	ENSG00000122728			18056	protein-coding gene	gene with protein product		607798	"TAF1-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa"			12217962	Standard	NM_153809		Approved		uc003zrg.1	Q8IZX4	OTTHUMG00000019747	ENST00000242310.4:c.1801G>A	9.37:g.32633777C>T	ENSP00000418379:p.Gly601Ser					RP11-555J4.4_ENST00000430787.1_RNA	p.G601S	NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)	1	1890	-			601					Q0VG57	Missense_Mutation	SNP	ENST00000242310.4	37	c.1801G>A	CCDS35003.1	.	.	.	.	.	.	.	.	.	.	C	7.681	0.688985	0.14973	.	.	ENSG00000122728	ENST00000242310	T	0.11930	2.73	0.479	0.479	0.16796	Transcription initiation factor TFIID subunit 1, domain of unknown function (1);	0.000000	0.85682	D	0.000000	T	0.05410	0.0143	N	0.05124	-0.11	0.43830	D	0.9964	B	0.28470	0.213	B	0.37989	0.262	T	0.32798	-0.9893	10	0.07990	T	0.79	.	3.4488	0.07490	0.449:0.5509:1.0E-4:1.0E-4	.	601	Q8IZX4	TAF1L_HUMAN	S	601	ENSP00000418379:G601S	ENSP00000418379:G601S	G	-	1	0	TAF1L	32623777	0.999000	0.42202	0.864000	0.33941	0.204000	0.24138	4.948000	0.63590	0.507000	0.28148	0.195000	0.17529	GGC		0.488	TAF1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052012.2			6	151	0	0	0	1	0	6	151					T	32633777	C	T	32633777	3	4	321	1	0	0	0	0	1	0	0	0	15520	623	22	3	3683	3	TAF1L	9	32633777	Missense_Mutation	SNP	C	TCGA-KK-A7AQ-01A-11D-A33T-08		32633777	108579654	22	16471											
OR13C4	138804	broad.mit.edu	37	chr9	107288538	107288538	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atatatccctttgatcttacTggttaatagctttcctgctc	8	18	5	10	0	1	1	0	1	1	0	4	1	3	1	2	1	3	3	2	1	5	7			TCGA-KK-A7AQ-01A-11D-A33T-08	TCGA-KK-A7AQ-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5232ee2-18b3-4257-8a61-5d460b11ee7e	fc1ad195-6261-4275-bed6-8d52f2622b1a	g.chr9:107288538T>A	ENST00000277216.3	-	1	952	c.953A>T	c.(952-954)cAg>cTg	p.Q318L		NM_001001919.1	NP_001001919.1	Q8NGS5	O13C4_HUMAN	olfactory receptor, family 13, subfamily C, member 4	318						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|large_intestine(2)|lung(14)|skin(1)	18						TTGATCTTACTGGTTAATAGC	0.373																																						ENST00000277216.3																			0				breast(1)|large_intestine(2)|lung(14)|skin(1)	18						c.(952-954)cAg>cTg		olfactory receptor, family 13, subfamily C, member 4							68	76	73					9																	107288538		2203	4300	6503	SO:0001583	missense	138804				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:107288538T>A		CCDS35088.1	9q31.1	2013-09-24			ENSG00000148136	ENSG00000148136		"GPCR / Class A : Olfactory receptors"	14722	protein-coding gene	gene with protein product							Standard	NM_001001919		Approved		uc011lvn.2	Q8NGS5	OTTHUMG00000020407	ENST00000277216.3:c.953A>T	9.37:g.107288538T>A	ENSP00000277216:p.Gln318Leu						p.Q318L	NM_001001919.1	NP_001001919.1	Q8NGS5	O13C4_HUMAN			1	952	-			318					Q6IF51|Q96R41	Missense_Mutation	SNP	ENST00000277216.3	37	c.953A>T	CCDS35088.1	.	.	.	.	.	.	.	.	.	.	T	11.49	1.655762	0.29425	.	.	ENSG00000148136	ENST00000277216	T	0.07908	3.15	3.94	3.94	0.45596	.	0.775102	0.10266	U	0.695403	T	0.05273	0.0140	N	0.08118	0	0.09310	N	1	B	0.30584	0.286	B	0.29598	0.104	T	0.33085	-0.9882	10	0.72032	D	0.01	.	9.3771	0.38290	0.0:0.0:0.0:1.0	.	318	Q8NGS5	O13C4_HUMAN	L	318	ENSP00000277216:Q318L	ENSP00000277216:Q318L	Q	-	2	0	OR13C4	106328359	0.000000	0.05858	0.002000	0.10522	0.003000	0.03518	0.628000	0.24522	1.768000	0.52137	0.460000	0.39030	CAG		0.373	OR13C4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053478.1			33	70	0	0	0	1	0	33	70					A	107288538	T	A	107288538	3	1	321	1	0	0	0	0	1	0	0	0	10936	1580	55	5	5	5	OR13C4	9	107288538	Missense_Mutation	SNP	T	TCGA-KK-A7AQ-01A-11D-A33T-08	74654761	107288538	33924893	23	16472											
TLR4	7099	broad.mit.edu	37	chr9	120474795	120474795	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tggactatcaagtttacagaAgctggtggctgtggagacaa	12	10	13	6	0	1	2	1	0	0	2	1	4	1	3	0	4	2	3	0	4	5	3			TCGA-KK-A7AQ-01A-11D-A33T-08	TCGA-KK-A7AQ-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5232ee2-18b3-4257-8a61-5d460b11ee7e	fc1ad195-6261-4275-bed6-8d52f2622b1a	g.chr9:120474795A>C	ENST00000355622.6	+	3	490	c.389A>C	c.(388-390)aAg>aCg	p.K130T	TLR4_ENST00000472304.1_3'UTR|TLR4_ENST00000394487.4_Missense_Mutation_p.K90T	NM_138554.4|NM_138557.2	NP_612564.1|NP_612567.1	O00206	TLR4_HUMAN	toll-like receptor 4	130					activation of MAPK activity (GO:0000187)|B cell proliferation involved in immune response (GO:0002322)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to lipoteichoic acid (GO:0071223)|cellular response to mechanical stimulus (GO:0071260)|defense response to bacterium (GO:0042742)|defense response to Gram-negative bacterium (GO:0050829)|detection of fungus (GO:0016046)|detection of lipopolysaccharide (GO:0032497)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|I-kappaB phosphorylation (GO:0007252)|immune response (GO:0006955)|innate immune response (GO:0045087)|interferon-gamma production (GO:0032609)|intestinal epithelial structure maintenance (GO:0060729)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|macrophage activation (GO:0042116)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-17 production (GO:0032700)|negative regulation of interleukin-23 production (GO:0032707)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of tumor necrosis factor production (GO:0032720)|nitric oxide production involved in inflammatory response (GO:0002537)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of chemokine production (GO:0032722)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-1 production (GO:0032732)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 biosynthetic process (GO:0045084)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 biosynthetic process (GO:0045416)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of JNK cascade (GO:0046330)|positive regulation of macrophage cytokine production (GO:0060907)|positive regulation of MHC class II biosynthetic process (GO:0045348)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of nucleotide-binding oligomerization domain containing 1 signaling pathway (GO:0070430)|positive regulation of nucleotide-binding oligomerization domain containing 2 signaling pathway (GO:0070434)|positive regulation of platelet activation (GO:0010572)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of cytokine secretion (GO:0050707)|response to lipopolysaccharide (GO:0032496)|T-helper 1 type immune response (GO:0042088)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|endosome membrane (GO:0010008)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|lipopolysaccharide receptor complex (GO:0046696)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	lipopolysaccharide binding (GO:0001530)|lipopolysaccharide receptor activity (GO:0001875)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	103					Naloxone(DB01183)	AGTTTACAGAAGCTGGTGGCT	0.438																																						ENST00000355622.6																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	103						c.(388-390)aAg>aCg		toll-like receptor 4							75	77	76					9																	120474795		2203	4300	6503	SO:0001583	missense	7099				activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|I-kappaB phosphorylation|innate immune response|intestinal epithelial structure maintenance|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|T-helper 1 type immune response|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm	lipopolysaccharide receptor activity|transmembrane receptor activity	g.chr9:120474795A>C	U88880	CCDS6818.1	9q33.1	2013-01-23			ENSG00000136869	ENSG00000136869		"CD molecules"	11850	protein-coding gene	gene with protein product		603030				9435236, 9237759	Standard	NM_138554		Approved	hToll, CD284, TLR-4, ARMD10	uc004bjz.4	O00206	OTTHUMG00000021046	ENST00000355622.6:c.389A>C	9.37:g.120474795A>C	ENSP00000363089:p.Lys130Thr					TLR4_ENST00000394487.4_Missense_Mutation_p.K90T|TLR4_ENST00000472304.1_3'UTR	p.K130T	NM_138554.4|NM_138557.2	NP_612564.1|NP_612567.1	O00206	TLR4_HUMAN			3	490	+			130					A8K1Y8|A9XLP9|A9XLQ0|A9XLQ1|B4E194|D1CS52|D1CS53|Q5VZI8|Q5VZI9|Q9UK78|Q9UM57	Missense_Mutation	SNP	ENST00000355622.6	37	c.389A>C	CCDS6818.1	.	.	.	.	.	.	.	.	.	.	A	14.28	2.487800	0.44249	.	.	ENSG00000136869	ENST00000394487;ENST00000355622	T;T	0.58210	0.35;5.55	5.08	3.97	0.46021	.	0.365080	0.26282	N	0.025278	T	0.32793	0.0841	N	0.04373	-0.215	0.34936	D	0.749786	P	0.35383	0.498	B	0.39152	0.292	T	0.46652	-0.9176	10	0.38643	T	0.18	.	11.8611	0.52467	0.8368:0.1632:0.0:0.0	.	130	O00206	TLR4_HUMAN	T	90;130	ENSP00000377997:K90T;ENSP00000363089:K130T	ENSP00000363089:K130T	K	+	2	0	TLR4	119514616	0.988000	0.35896	1.000000	0.80357	0.997000	0.91878	1.553000	0.36255	0.829000	0.34733	0.533000	0.62120	AAG		0.438	TLR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055549.3	NM_138554		20	55	0	0	0	1	0	20	55					C	120474795	A	C	120474795	3	2	321	1	0	0	0	0	1	0	0	0	15950	72	3	5	399	5	TLR4	9	120474795	Missense_Mutation	SNP	A	TCGA-KK-A7AQ-01A-11D-A33T-08	13186257	120474795	20738636	24	16473											
GFI1B	8328	broad.mit.edu	37	chr9	135866331	135866331	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caacctcatcacccacagccGcaagcacacaggcttcaagc	13	4	6	18	1	3	0	3	0	0	0	3	0	3	0	3	1	4	3	3	1	3	1	rs537470322		TCGA-KK-A7AQ-01A-11D-A33T-08	TCGA-KK-A7AQ-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5232ee2-18b3-4257-8a61-5d460b11ee7e	fc1ad195-6261-4275-bed6-8d52f2622b1a	g.chr9:135866331G>A	ENST00000339463.3	+	11	1706	c.887G>A	c.(886-888)cGc>cAc	p.R296H	GFI1B_ENST00000372124.1_Missense_Mutation_p.R250H|GFI1B_ENST00000534944.1_Missense_Mutation_p.R250H|GFI1B_ENST00000372123.1_Missense_Mutation_p.R250H|GFI1B_ENST00000450530.1_Missense_Mutation_p.R296H|GFI1B_ENST00000372122.1_Missense_Mutation_p.R296H			Q5VTD9	GFI1B_HUMAN	growth factor independent 1B transcription repressor	296	Interaction with ARIH2.|Mediates interaction with GATA1.				cell proliferation (GO:0008283)|chromatin modification (GO:0016568)|multicellular organismal development (GO:0007275)|negative regulation of histone H3-K4 methylation (GO:0051572)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of histone H3-K9 methylation (GO:0051574)|regulation of erythrocyte differentiation (GO:0045646)|transcription from RNA polymerase II promoter (GO:0006366)	nuclear matrix (GO:0016363)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II transcription factor binding (GO:0001085)			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)	21				OV - Ovarian serous cystadenocarcinoma(145;9.04e-07)|Epithelial(140;1.17e-05)		ACCCACAGCCGCAAGCACACA	0.627																																						ENST00000339463.3																			0				central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)	21						c.(886-888)cGc>cAc		growth factor independent 1B transcription repressor							96	79	85					9																	135866331		2203	4300	6503	SO:0001583	missense	8328				cell proliferation|chromatin modification|multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle|transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|zinc ion binding	g.chr9:135866331G>A	AF081946	CCDS6957.1, CCDS48049.1	9q34.13	2014-09-17	2007-10-04		ENSG00000165702	ENSG00000165702		"Zinc fingers, C2H2-type"	4238	protein-coding gene	gene with protein product		604383	"growth factor independent 1B (potential regulator of CDKN1A, translocated in CML)"			9878267	Standard	NM_001135031		Approved		uc004ccg.3	Q5VTD9	OTTHUMG00000020848	ENST00000339463.3:c.887G>A	9.37:g.135866331G>A	ENSP00000344782:p.Arg296His					GFI1B_ENST00000372123.1_Missense_Mutation_p.R250H|GFI1B_ENST00000450530.1_Missense_Mutation_p.R296H|GFI1B_ENST00000372122.1_Missense_Mutation_p.R296H|GFI1B_ENST00000534944.1_Missense_Mutation_p.R250H|GFI1B_ENST00000372124.1_Missense_Mutation_p.R250H	p.R296H			Q5VTD9	GFI1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;9.04e-07)|Epithelial(140;1.17e-05)	11	1706	+			296			Interaction with ARIH2.|Mediates interaction with GATA1.		O95270|Q5VTD8|Q6FHZ2|Q6T888	Missense_Mutation	SNP	ENST00000339463.3	37	c.887G>A	CCDS6957.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.338718	0.81911	.	.	ENSG00000165702	ENST00000372124;ENST00000339463;ENST00000450530;ENST00000534944;ENST00000372123;ENST00000372122	T;T;T;T;T;T	0.25749	1.78;1.78;1.78;1.78;1.78;1.78	4.9	4.9	0.64082	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.53400	0.1794	M	0.78285	2.405	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.56288	-0.8004	10	0.51188	T	0.08	-44.5173	17.4238	0.87521	0.0:0.0:1.0:0.0	.	250;296	Q5VTD9-2;Q5VTD9	.;GFI1B_HUMAN	H	250;296;296;250;250;296	ENSP00000361197:R250H;ENSP00000344782:R296H;ENSP00000409546:R296H;ENSP00000446134:R250H;ENSP00000361196:R250H;ENSP00000361195:R296H	ENSP00000344782:R296H	R	+	2	0	GFI1B	134856152	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.813000	0.99286	2.425000	0.82216	0.462000	0.41574	CGC		0.627	GFI1B-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393840.1	NM_004188		11	33	0	0	0	1	0	11	33					A	135866331	G	A	135866331	3	1	321	1	0	0	0	0	1	0	0	0	6340	1087	38	1	909	1	GFI1B	9	135866331	Missense_Mutation	SNP	G	TCGA-KK-A7AQ-01A-11D-A33T-08	15391536	135866331	5347100	25	16474											
C9orf86	55684	broad.mit.edu	37	chr9	139726231	139726231	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccacccacgtgccagtgtgcGtgctgggaaactaccgggac	8	6	13	14	3	0	0	0	0	0	0	0	2	0	2	4	2	5	1	4	2	2	1	rs374394708		TCGA-KK-A7AQ-01A-11D-A33T-08	TCGA-KK-A7AQ-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5232ee2-18b3-4257-8a61-5d460b11ee7e	fc1ad195-6261-4275-bed6-8d52f2622b1a	g.chr9:139726231G>A	ENST00000311502.7	+	6	753	c.517G>A	c.(517-519)Gtg>Atg	p.V173M	RABL6_ENST00000371675.3_Missense_Mutation_p.V58M|RABL6_ENST00000371671.4_Missense_Mutation_p.V173M|RABL6_ENST00000432842.2_Missense_Mutation_p.V135M|MIR4292_ENST00000585012.1_RNA|RP11-216L13.18_ENST00000471502.1_RNA|RABL6_ENST00000371663.4_Missense_Mutation_p.V173M|RABL6_ENST00000357466.2_Missense_Mutation_p.V173M|RABL6_ENST00000466096.1_3'UTR			Q3YEC7	RABL6_HUMAN	RAB, member RAS oncogene family-like 6	173	Small GTPase-like.				small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	GTP binding (GO:0005525)										GCCAGTGTGCGTGCTGGGAAA	0.607																																						ENST00000371675.3																			0											c.(172-174)Gtg>Atg		RAB, member RAS oncogene family-like 6		G	MET/VAL,MET/VAL,MET/VAL	0,4184		0,0,2092	59	64	63		517,517,517	4.3	1	9		63	1,8419		0,1,4209	no	missense,missense,missense	C9orf86	NM_001173988.1,NM_001173989.1,NM_024718.4	21,21,21	0,1,6301	AA,AG,GG		0.0119,0.0,0.0079	probably-damaging,probably-damaging,probably-damaging	173/731,173/315,173/730	139726231	1,12603	2092	4210	6302	SO:0001583	missense	55684							g.chr9:139726231G>A	AK094382	CCDS48058.1, CCDS55352.1, CCDS55353.1	9q34.3	2012-06-28	2012-06-28	2012-06-28	ENSG00000196642	ENSG00000196642			24703	protein-coding gene	gene with protein product	"Rab-like protein 1", "partner of ARF"	610615	"chromosome 9 open reading frame 86"	C9orf86		14702039, 16582619, 17962191, 19433581	Standard	NM_024718		Approved	FLJ10101, FLJ13045, pp8875, bA216L13.9, Parf, RBEL1	uc004cjj.1	Q3YEC7	OTTHUMG00000020947	ENST00000311502.7:c.517G>A	9.37:g.139726231G>A	ENSP00000311134:p.Val173Met					RABL6_ENST00000357466.2_Missense_Mutation_p.V173M|RABL6_ENST00000371663.4_Missense_Mutation_p.V173M|RABL6_ENST00000466096.1_3'UTR|RABL6_ENST00000432842.2_Missense_Mutation_p.V135M|RABL6_ENST00000371671.4_Missense_Mutation_p.V173M|RABL6_ENST00000311502.7_Missense_Mutation_p.V173M	p.V58M							6	1057	+								A8QVZ7|A8QVZ8|C6K8I4|C6K8I5|Q4F968|Q5T5R7|Q8IWK1|Q8TCL4|Q8WU94|Q96SR8|Q9BU21|Q9H935	Missense_Mutation	SNP	ENST00000311502.7	37	c.172G>A	CCDS48058.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	23.0|23.0	4.361943|4.361943	0.82353|0.82353	0.0|0.0	1.19E-4|1.19E-4	ENSG00000196642|ENSG00000196642	ENST00000436380;ENST00000425121|ENST00000371673;ENST00000371663;ENST00000371671;ENST00000311502;ENST00000357466;ENST00000432842;ENST00000371675	.|T;T;T;T;T;T	.|0.76316	.|-0.66;-0.66;-0.66;-0.66;-0.66;-1.01	4.32|4.32	4.32|4.32	0.51571|0.51571	.|Mitochondrial Rho-like (1);	.|0.000000	.|0.64402	.|U	.|0.000003	D|D	0.87838|0.87838	0.6278|0.6278	M|M	0.79258|0.79258	2.445|2.445	0.80722|0.80722	D|D	1|1	.|D;D;D;D;D	.|0.89917	.|1.0;1.0;1.0;1.0;1.0	.|D;D;D;D;D	.|0.91635	.|0.998;0.991;0.999;0.999;0.993	D|D	0.89882|0.89882	0.4031|0.4031	5|10	.|0.87932	.|D	.|0	-32.6633|-32.6633	16.1371|16.1371	0.81494|0.81494	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|173;173;173;173;173	.|A8QVZ8;C6K8I5;Q3YEC7-2;Q3YEC7;C6K8I4	.|.;.;.;PARF_HUMAN;.	H|M	129;83|173;173;173;173;173;135;58	.|ENSP00000360727:V173M;ENSP00000360736:V173M;ENSP00000311134:V173M;ENSP00000350056:V173M;ENSP00000414081:V135M;ENSP00000360740:V58M	.|ENSP00000311134:V173M	R|V	+|+	2|1	0|0	C9orf86|C9orf86	138846052|138846052	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.729000|0.729000	0.41735|0.41735	9.207000|9.207000	0.95064|0.95064	2.113000|2.113000	0.64589|0.64589	0.305000|0.305000	0.20034|0.20034	CGT|GTG		0.607	RABL6-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000055141.4	NM_024718		18	29	0	0	0	1	0	18	29					A	139726231	G	A	139726231	3	1	321	1	0	0	0	0	1	0	0	0	2502	1145	40	1	539	1	C9orf86	9	139726231	Missense_Mutation	SNP	G	TCGA-KK-A7AQ-01A-11D-A33T-08	3859900	139726231	1487200	26	16475											
MKI67	4288	broad.mit.edu	37	chr10	129913572	129913572	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	attctcttctaccagtagtaTacaggtctttgttcttatgt	8	19	6	8	0	4	0	0	0	4	0	5	0	4	0	1	1	2	3	1	1	5	9			TCGA-KK-A7AQ-01A-11D-A33T-08	TCGA-KK-A7AQ-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5232ee2-18b3-4257-8a61-5d460b11ee7e	fc1ad195-6261-4275-bed6-8d52f2622b1a	g.chr10:129913572T>C	ENST00000368654.3	-	7	1475	c.1100A>G	c.(1099-1101)tAt>tGt	p.Y367C	MKI67_ENST00000484853.1_5'Flank|MKI67_ENST00000368653.3_Intron	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	367					cell proliferation (GO:0008283)|cellular response to heat (GO:0034605)|DNA metabolic process (GO:0006259)|hyaluronan metabolic process (GO:0030212)|meiotic nuclear division (GO:0007126)|organ regeneration (GO:0031100)|response to organic cyclic compound (GO:0014070)	chromosome, centromeric region (GO:0000775)|condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				ACCAGTAGTATACAGGTCTTT	0.418																																						ENST00000368654.3																			0				NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159						c.(1099-1101)tAt>tGt		marker of proliferation Ki-67							114	120	118					10																	129913572		2203	4300	6503	SO:0001583	missense	4288				cell proliferation	nucleolus	ATP binding|protein C-terminus binding	g.chr10:129913572T>C	X65550	CCDS7659.1, CCDS53588.1	10q26.2	2014-06-12	2013-10-10		ENSG00000148773	ENSG00000148773			7107	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 105"	176741	"antigen identified by monoclonal antibody Ki-67"			2571566, 16206250	Standard	NM_002417		Approved	MIB-, PPP1R105	uc001lke.3	P46013	OTTHUMG00000019255	ENST00000368654.3:c.1100A>G	10.37:g.129913572T>C	ENSP00000357643:p.Tyr367Cys					MKI67_ENST00000368653.3_Intron	p.Y367C	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN			7	1475	-		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)	367					Q5VWH2	Missense_Mutation	SNP	ENST00000368654.3	37	c.1100A>G	CCDS7659.1	.	.	.	.	.	.	.	.	.	.	T	11.50	1.657050	0.29425	.	.	ENSG00000148773	ENST00000368654;ENST00000537609	T	0.01258	5.09	3.59	-3.25	0.05079	.	3.093420	0.01044	N	0.004354	T	0.01222	0.0040	N	0.14661	0.345	0.09310	N	1	B	0.10296	0.003	B	0.06405	0.002	T	0.49062	-0.8978	10	0.87932	D	0	.	5.3582	0.16073	0.0:0.309:0.1556:0.5354	.	367	P46013	KI67_HUMAN	C	367	ENSP00000357643:Y367C	ENSP00000357643:Y367C	Y	-	2	0	MKI67	129803562	0.000000	0.05858	0.000000	0.03702	0.106000	0.19336	-0.916000	0.04029	-0.759000	0.04684	-0.250000	0.11733	TAT		0.418	MKI67-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050999.1	NM_002417		46	83	0	0	0	1	0	46	83					C	129913572	T	C	129913572	3	2	321	1	0	0	0	0	1	0	0	0	9598	1406	49	4	8706	4	MKI67	10	129913572	Missense_Mutation	SNP	T	TCGA-KK-A7AQ-01A-11D-A33T-08		129913572	5621175	27	16476											
KIF5A	3798	broad.mit.edu	37	chr12	57957910	57957910	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggaaagctgcacgaccctcAgctgatgggaatcattcctc	10	8	11	12	1	2	1	2	1	0	0	4	4	3	3	2	2	3	3	2	2	2	1			TCGA-KK-A7AQ-01A-11D-A33T-08	TCGA-KK-A7AQ-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5232ee2-18b3-4257-8a61-5d460b11ee7e	fc1ad195-6261-4275-bed6-8d52f2622b1a	g.chr12:57957910A>T	ENST00000455537.2	+	4	585	c.311A>T	c.(310-312)cAg>cTg	p.Q104L	KIF5A_ENST00000286452.5_Intron	NM_004984.2	NP_004975.2	Q12840	KIF5A_HUMAN	kinesin family member 5A	104	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell death (GO:0008219)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|protein localization (GO:0008104)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|motor activity (GO:0003774)|plus-end-directed microtubule motor activity (GO:0008574)			breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(32)|ovary(2)|prostate(2)|skin(2)	62						CACGACCCTCAGCTGATGGGA	0.512																																						ENST00000455537.2																			0				breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(32)|ovary(2)|prostate(2)|skin(2)	62						c.(310-312)cAg>cTg		kinesin family member 5A							94	79	84					12																	57957910		2203	4300	6503	SO:0001583	missense	3798				blood coagulation|cell death|microtubule-based movement|synaptic transmission	cytosol|kinesin complex|membrane fraction|microtubule|perinuclear region of cytoplasm	ATP binding|microtubule motor activity	g.chr12:57957910A>T	U06698	CCDS8945.1	12q13.13	2011-07-15	2004-02-13			ENSG00000155980		"Kinesins"	6323	protein-coding gene	gene with protein product		602821	"spastic paraplegia 10 (autosomal dominant)"	SPG10		9858832, 10441583, 16489470	Standard	NM_004984		Approved	D12S1889, NKHC, MY050	uc001sor.1	Q12840	OTTHUMG00000170143	ENST00000455537.2:c.311A>T	12.37:g.57957910A>T	ENSP00000408979:p.Gln104Leu					KIF5A_ENST00000286452.5_Intron	p.Q104L	NM_004984.2	NP_004975.2	Q12840	KIF5A_HUMAN			4	585	+			104			Kinesin-motor.		A6H8M5|Q4LE26	Missense_Mutation	SNP	ENST00000455537.2	37	c.311A>T	CCDS8945.1	.	.	.	.	.	.	.	.	.	.	A	18.02	3.530608	0.64860	.	.	ENSG00000155980	ENST00000455537	T	0.73152	-0.72	4.87	4.87	0.63330	Kinesin, motor domain (4);	0.058613	0.64402	D	0.000001	T	0.65491	0.2696	L	0.47716	1.5	0.80722	D	1	B	0.12013	0.005	B	0.21360	0.034	T	0.65257	-0.6212	10	0.66056	D	0.02	.	13.9074	0.63845	1.0:0.0:0.0:0.0	.	104	Q12840	KIF5A_HUMAN	L	104	ENSP00000408979:Q104L	ENSP00000408979:Q104L	Q	+	2	0	KIF5A	56244177	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.928000	0.92853	2.174000	0.68829	0.533000	0.62120	CAG		0.512	KIF5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407634.1	NM_004984		11	32	0	0	0	1	0	11	32					T	57957910	A	T	57957910	3	4	321	1	0	0	0	0	1	0	0	0	8305	188	7	5	325	5	KIF5A	12	57957910	Missense_Mutation	SNP	A	TCGA-KK-A7AQ-01A-11D-A33T-08		57957910	75893985	28	16477											
MYO9A	4649	broad.mit.edu	37	chr15	72338097	72338097	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tccagctccaagaataatctGttctactccactggcaaatc	12	11	5	13	0	2	1	0	0	2	1	6	1	5	1	3	1	2	3	3	1	5	3			TCGA-KK-A7AQ-01A-11D-A33T-08	TCGA-KK-A7AQ-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5232ee2-18b3-4257-8a61-5d460b11ee7e	fc1ad195-6261-4275-bed6-8d52f2622b1a	g.chr15:72338097G>C	ENST00000356056.5	-	2	1280	c.808C>G	c.(808-810)Cag>Gag	p.Q270E	MYO9A_ENST00000564571.1_Missense_Mutation_p.Q270E|MYO9A_ENST00000563542.1_5'UTR|MYO9A_ENST00000566885.1_Intron|RNU2-65P_ENST00000410162.1_RNA|MYO9A_ENST00000424560.1_Missense_Mutation_p.Q270E|MYO9A_ENST00000444904.1_Missense_Mutation_p.Q270E	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN	myosin IXA	270	Myosin motor.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|visual perception (GO:0007601)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|unconventional myosin complex (GO:0016461)	ATP binding (GO:0005524)|GTPase activator activity (GO:0005096)|metal ion binding (GO:0046872)|motor activity (GO:0003774)			NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						AGAATAATCTGTTCTACTCCA	0.388																																						ENST00000356056.5																			0				NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						c.(808-810)Cag>Gag		myosin IXA							71	70	71					15																	72338097		2199	4297	6496	SO:0001583	missense	4649				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception	cytosol|integral to membrane|unconventional myosin complex	actin binding|ATP binding|GTPase activator activity|metal ion binding|motor activity	g.chr15:72338097G>C	AF117888	CCDS10239.1	15q22-q23	2011-09-27			ENSG00000066933	ENSG00000066933		"Myosins / Myosin superfamily : Class IX"	7608	protein-coding gene	gene with protein product		604875				10409426	Standard	NM_006901		Approved	FLJ11061, FLJ13244, MGC71859	uc002atl.5	B2RTY4	OTTHUMG00000133440	ENST00000356056.5:c.808C>G	15.37:g.72338097G>C	ENSP00000348349:p.Gln270Glu					MYO9A_ENST00000563542.1_5'UTR|MYO9A_ENST00000566885.1_Intron|MYO9A_ENST00000444904.1_Missense_Mutation_p.Q270E|MYO9A_ENST00000424560.1_Missense_Mutation_p.Q270E|MYO9A_ENST00000564571.1_Missense_Mutation_p.Q270E	p.Q270E	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN			2	1280	-			270			Myosin head-like 1.		B0I1T5|C9IYB3|C9JA86|Q14787|Q3YLD7|Q3YLD8|Q6P986|Q9H8T5|Q9NTG2|Q9NUY2|Q9UEP3|Q9UNJ2	Missense_Mutation	SNP	ENST00000356056.5	37	c.808C>G	CCDS10239.1	.	.	.	.	.	.	.	.	.	.	G	25.5	4.647305	0.87958	.	.	ENSG00000066933	ENST00000356056;ENST00000424560;ENST00000444904;ENST00000261864;ENST00000446448	T;T;T	0.70045	-0.45;-0.45;-0.45	5.92	5.92	0.95590	Myosin head, motor domain (2);	.	.	.	.	T	0.77471	0.4135	L	0.43923	1.385	0.80722	D	1	P;D;D	0.56968	0.936;0.969;0.978	P;P;D	0.64687	0.458;0.737;0.928	T	0.77765	-0.2465	9	0.87932	D	0	.	20.3734	0.98896	0.0:0.0:1.0:0.0	.	270;270;270	B2RTY4-3;B7WP69;B2RTY4	.;.;MYO9A_HUMAN	E	270	ENSP00000348349:Q270E;ENSP00000399162:Q270E;ENSP00000398250:Q270E	ENSP00000261864:Q270E	Q	-	1	0	MYO9A	70125151	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.773000	0.98989	2.820000	0.97059	0.650000	0.86243	CAG		0.388	MYO9A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257308.1	NM_006901		17	29	0	0	0	1	0	17	29					C	72338097	G	C	72338097	3	2	321	1	0	0	0	0	1	0	0	0	10084	1386	48	5	7002	5	MYO9A	15	72338097	Missense_Mutation	SNP	G	TCGA-KK-A7AQ-01A-11D-A33T-08		72338097	30193295	29	16478											
NEO1	4756	broad.mit.edu	37	chr15	73528785	73528785	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgacgtggcggacacctgcAtcagatcctcacggagacaa	11	7	11	12	3	2	3	2	1	0	2	3	5	3	4	2	3	1	1	2	3	1	1			TCGA-KK-A7AQ-01A-11D-A33T-08	TCGA-KK-A7AQ-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5232ee2-18b3-4257-8a61-5d460b11ee7e	fc1ad195-6261-4275-bed6-8d52f2622b1a	g.chr15:73528785A>C	ENST00000339362.5	+	9	1836	c.1389A>C	c.(1387-1389)gcA>gcC	p.A463A	NEO1_ENST00000261908.6_Silent_p.A463A|NEO1_ENST00000560352.1_3'UTR|NEO1_ENST00000558964.1_Silent_p.A463A|NEO1_ENST00000560262.1_Silent_p.A463A			Q92859	NEO1_HUMAN	neogenin 1	463	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|iron ion homeostasis (GO:0055072)|muscle cell differentiation (GO:0042692)|myoblast fusion (GO:0007520)|positive regulation of muscle cell differentiation (GO:0051149)|regulation of transcription, DNA-templated (GO:0006355)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(9)|lung(26)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	57						GGACACCTGCATCAGATCCTC	0.562																																						ENST00000339362.5																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(9)|lung(26)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	57						c.(1387-1389)gcA>gcC		neogenin 1							208	163	178					15																	73528785		2198	4297	6495	SO:0001819	synonymous_variant	4756				axon guidance|cell adhesion|positive regulation of muscle cell differentiation	Golgi apparatus|integral to plasma membrane|nucleus		g.chr15:73528785A>C	U61262	CCDS10247.1, CCDS53957.1, CCDS58378.1	15q22.3-q23	2014-06-20	2010-06-24		ENSG00000067141	ENSG00000067141		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	7754	protein-coding gene	gene with protein product	"immunoglobulin superfamily, DCC subclass, member 2"	601907	"neogenin (chicken) homolog 1"			9121761	Standard	NM_002499		Approved	NGN, HsT17534, IGDCC2, NTN1R2	uc002avm.4	Q92859	OTTHUMG00000133509	ENST00000339362.5:c.1389A>C	15.37:g.73528785A>C						NEO1_ENST00000560262.1_Silent_p.A463A|NEO1_ENST00000261908.6_Silent_p.A463A|NEO1_ENST00000560352.1_3'UTR|NEO1_ENST00000558964.1_Silent_p.A463A	p.A463A			Q92859	NEO1_HUMAN			9	1836	+			463			Fibronectin type-III 1.		B7ZKM9|B7ZKN0|O00340|Q17RX1	Silent	SNP	ENST00000339362.5	37	c.1389A>C	CCDS10247.1																																																																																				0.562	NEO1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257472.2	NM_002499		39	68	0	0	0	1	0	39	68					C	73528785	A	C	73528785	2	2	321	1	0	0	0	0	0	0	0	1	10336	204	8	5		5	NEO1	15	73528785	Silent	SNP	A	TCGA-KK-A7AQ-01A-11D-A33T-08	1190688	73528785	29002607	30	16479											
TIMM22	29928	broad.mit.edu	37	chr17	900393	900393	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	agcgactgtcatggcggcggCcgcccccaatgccggaggct	6	5	15	15	5	1	0	1	0	0	0	1	2	1	1	4	5	2	1	4	5	1	0			TCGA-KK-A7AQ-01A-11D-A33T-08	TCGA-KK-A7AQ-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5232ee2-18b3-4257-8a61-5d460b11ee7e	fc1ad195-6261-4275-bed6-8d52f2622b1a	g.chr17:900393C>G	ENST00000327158.4	+	1	37	c.11C>G	c.(10-12)gCc>gGc	p.A4G		NM_013337.2	NP_037469.2	Q9Y584	TIM22_HUMAN	translocase of inner mitochondrial membrane 22 homolog (yeast)	4					cellular protein metabolic process (GO:0044267)|protein import into mitochondrial inner membrane (GO:0045039)|protein targeting to mitochondrion (GO:0006626)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)	protein channel activity (GO:0015266)			breast(2)|endometrium(2)|large_intestine(1)|prostate(1)|upper_aerodigestive_tract(1)	7				UCEC - Uterine corpus endometrioid carcinoma (25;0.022)		ATGGCGGCGGCCGCCCCCAAT	0.667																																						ENST00000327158.3																			0				breast(2)|endometrium(2)|large_intestine(1)|prostate(1)|upper_aerodigestive_tract(1)	7						c.(10-12)gCc>gGc		translocase of inner mitochondrial membrane 22 homolog (yeast)							9	12	11					17																	900393		2063	4145	6208	SO:0001583	missense	29928				transmembrane transport	integral to membrane|mitochondrial inner membrane	protein transporter activity	g.chr17:900393C>G	AF155330	CCDS32521.1	17p13	2008-02-05	2003-07-22			ENSG00000177370			17317	protein-coding gene	gene with protein product		607251	"testis-expressed sequence 4"	TEX4			Standard	NM_013337		Approved		uc002fsc.3	Q9Y584		ENST00000327158.4:c.11C>G	17.37:g.900393C>G	ENSP00000320236:p.Ala4Gly						p.A4G	NM_013337.2	NP_037469.2	Q9Y584	TIM22_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.022)	1	37	+			4					Q9NWI8	Missense_Mutation	SNP	ENST00000327158.4	37	c.11C>G	CCDS32521.1	.	.	.	.	.	.	.	.	.	.	C	19.84	3.901241	0.72754	.	.	ENSG00000177370	ENST00000327158	T	0.47177	0.85	5.33	3.14	0.36123	.	0.662303	0.16350	N	0.218248	T	0.20941	0.0504	N	0.02011	-0.69	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.15925	-1.0420	10	0.27785	T	0.31	-2.1998	10.7666	0.46297	0.1476:0.71:0.1424:0.0	.	4	Q9Y584	TIM22_HUMAN	G	4	ENSP00000320236:A4G	ENSP00000320236:A4G	A	+	2	0	TIMM22	847143	0.005000	0.15991	0.003000	0.11579	0.529000	0.34654	2.166000	0.42406	1.170000	0.42753	0.485000	0.47835	GCC		0.667	TIMM22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450107.2	NM_013337		8	8	0	0	0	1	0	8	8					G	900393	C	G	900393	3	3	321	1	0	0	0	0	1	0	0	0	15907	739	26	5	13	5	TIMM22	17	900393	Missense_Mutation	SNP	C	TCGA-KK-A7AQ-01A-11D-A33T-08		900393	80294817	31	16480											
UBB	7314	broad.mit.edu	37	chr17	16285491	16285491	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ctgaccggcaagaccatcacCctggaagtggagcccagtga	11	5	12	13	1	1	3	1	2	0	1	1	5	1	5	4	3	1	1	4	3	2	0	rs16962973		TCGA-KK-A7AQ-01A-11D-A33T-08	TCGA-KK-A7AQ-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5232ee2-18b3-4257-8a61-5d460b11ee7e	fc1ad195-6261-4275-bed6-8d52f2622b1a	g.chr17:16285491C>T	ENST00000395837.1	+	2	451	c.270C>T	c.(268-270)acC>acT	p.T90T	UBB_ENST00000578649.1_Intron|UBB_ENST00000535788.1_Intron|UBB_ENST00000395839.1_Silent_p.T90T|UBB_ENST00000302182.3_Silent_p.T90T|RP11-138I1.4_ENST00000583934.1_RNA	NM_001281718.1|NM_001281720.1	NP_001268647.1|NP_001268649.1	P0CG47	UBB_HUMAN	ubiquitin B	90	Ubiquitin-like 2. {ECO:0000255|PROSITE- ProRule:PRU00214}.		GMQIFVKTLTGKTITLEVEPSDTIENVKAKIQDKEGIPPDQ QRLIFAGKQLEDGRTLSDYNIQKESTLHLVLRLRGGMQIFV KTLTGKTITLEVEPSDTIENVKAKIQDKEGIPPDQQRLIFA GKQLEDGRTLSDYNIQKESTLHLVLRLRGGC -> YADLRE DPDRQDHHPGSGAQ (in UBB(+1); loss of polyubiquitination; impairs the ubiquitin-proteasome pathway; refractory to disassembly by DUBs; slow degradation by UCHL3).		activation of MAPK activity (GO:0000187)|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|carbohydrate metabolic process (GO:0005975)|cellular response to hypoxia (GO:0071456)|cytokine-mediated signaling pathway (GO:0019221)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|endosomal transport (GO:0016197)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|intracellular transport of virus (GO:0075733)|ion transmembrane transport (GO:0034220)|JNK cascade (GO:0007254)|membrane organization (GO:0061024)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of type I interferon production (GO:0032480)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of apoptotic process (GO:0043065)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of type I interferon production (GO:0032479)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|stress-activated MAPK cascade (GO:0051403)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|transmembrane transport (GO:0055085)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral protein processing (GO:0019082)|virion assembly (GO:0019068)	cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16				UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)		AGACCATCACCCTGGAAGTGG	0.552																																					Melanoma(163;1126 3406 34901)	ENST00000302182.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						c.(268-270)acC>acT		ubiquitin B							75	76	75					17																	16285491		2203	4297	6500	SO:0001819	synonymous_variant	7314				activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|viral reproduction	cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane	protein binding	g.chr17:16285491C>T		CCDS11177.1	17p12-p11.2	2010-11-25			ENSG00000170315	ENSG00000170315			12463	protein-coding gene	gene with protein product	"polyubiquitin B"	191339				2154095	Standard	NM_018955		Approved	MGC8385, FLJ25987	uc002gpx.3	P0CG47	OTTHUMG00000058987	ENST00000395837.1:c.270C>T	17.37:g.16285491C>T						UBB_ENST00000395837.1_Silent_p.T90T|RP11-138I1.4_ENST00000583934.1_RNA|UBB_ENST00000395839.1_Silent_p.T90T|UBB_ENST00000578649.1_Intron|UBB_ENST00000535788.1_Intron	p.T90T	NM_018955.2	NP_061828.1	P0CG47	UBB_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)	2	662	+			90			Ubiquitin-like 2.		P02248|P02249|P02250|P62988|Q29120|Q6LBL4|Q6LDU5|Q8WYN8|Q91887|Q91888|Q9BWD6|Q9BX98|Q9UEF2|Q9UEG1|Q9UEK8|Q9UPK7	Silent	SNP	ENST00000395837.1	37	c.270C>T	CCDS11177.1																																																																																				0.552	UBB-002	NOVEL	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000130459.1	NM_018955		4	80	0	0	0	1	0	4	80					T	16285491	C	T	16285491	2	4	321	1	0	0	0	0	0	0	0	1	16838	610	22	3		3	UBB	17	16285491	Silent	SNP	C	TCGA-KK-A7AQ-01A-11D-A33T-08	15385098	16285491	64909719	32	16481											
ATAD5	79915	broad.mit.edu	37	chr17	29196386	29196386	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aactgctgcagtgtatgcttGtgcccaggagcttggattta	8	13	12	8	0	0	0	0	0	0	0	0	2	0	2	1	2	6	5	1	2	3	5			TCGA-KK-A7AQ-01A-11D-A33T-08	TCGA-KK-A7AQ-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5232ee2-18b3-4257-8a61-5d460b11ee7e	fc1ad195-6261-4275-bed6-8d52f2622b1a	g.chr17:29196386G>A	ENST00000321990.4	+	13	3812	c.3434G>A	c.(3433-3435)tGt>tAt	p.C1145Y		NM_024857.3	NP_079133.3	Q96QE3	ATAD5_HUMAN	ATPase family, AAA domain containing 5	1145					cellular response to DNA damage stimulus (GO:0006974)	nucleus (GO:0005634)	ATP binding (GO:0005524)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(18)|lung(13)|ovary(3)|pancreas(1)	51		all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393)				GTGTATGCTTGTGCCCAGGAG	0.398																																						ENST00000321990.4																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(18)|lung(13)|ovary(3)|pancreas(1)	51						c.(3433-3435)tGt>tAt		ATPase family, AAA domain containing 5							170	158	162					17																	29196386		2203	4300	6503	SO:0001583	missense	79915				response to DNA damage stimulus	nucleus	ATP binding|nucleoside-triphosphatase activity	g.chr17:29196386G>A		CCDS11260.1	17q11.2	2010-04-21	2007-02-08	2007-02-08	ENSG00000176208	ENSG00000176208		"ATPases / AAA-type"	25752	protein-coding gene	gene with protein product	"enhanced level of genomic instability 1 homolog (S. cerevisiae)"	609534	"chromosome 17 open reading frame 41"	C17orf41		15983387, 11468690, 19755857	Standard	NM_024857		Approved	FLJ12735, FRAG1, ELG1	uc002hfs.1	Q96QE3	OTTHUMG00000132794	ENST00000321990.4:c.3434G>A	17.37:g.29196386G>A	ENSP00000313171:p.Cys1145Tyr						p.C1145Y	NM_024857.3	NP_079133.3	Q96QE3	ATAD5_HUMAN			13	3812	+		all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393)	1145					Q05DH0|Q69YR6|Q9H9I1	Missense_Mutation	SNP	ENST00000321990.4	37	c.3434G>A	CCDS11260.1	.	.	.	.	.	.	.	.	.	.	G	14.64	2.595214	0.46318	.	.	ENSG00000176208	ENST00000321990	D	0.92752	-3.1	5.43	5.43	0.79202	ATPase, AAA-type, core (1);ATPase, AAA+ type, core (1);	0.155460	0.64402	D	0.000011	D	0.95730	0.8611	M	0.67700	2.07	0.80722	D	1	D;D	0.89917	0.971;1.0	P;D	0.91635	0.908;0.999	D	0.95955	0.8957	10	0.87932	D	0	.	19.2415	0.93886	0.0:0.0:1.0:0.0	.	1145;1145	Q96QE3-2;Q96QE3	.;ATAD5_HUMAN	Y	1145	ENSP00000313171:C1145Y	ENSP00000313171:C1145Y	C	+	2	0	ATAD5	26220512	1.000000	0.71417	1.000000	0.80357	0.898000	0.52572	9.326000	0.96389	2.538000	0.85594	0.591000	0.81541	TGT		0.398	ATAD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256206.2	NM_024857		6	85	0	0	0	1	0	6	85					A	29196386	G	A	29196386	3	1	321	1	0	0	0	0	1	0	0	0	1076	1377	48	3	3484	3	ATAD5	17	29196386	Missense_Mutation	SNP	G	TCGA-KK-A7AQ-01A-11D-A33T-08	12910895	29196386	51998824	33	16482											
SPOP	8405	broad.mit.edu	37	chr17	47696426	47696426	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tctacggatgaatttcttgaAtccccagtctttgccttgca	8	15	7	11	1	3	2	0	2	3	0	4	3	4	3	3	1	3	1	3	1	3	5			TCGA-KK-A7AQ-01A-11D-A33T-08	TCGA-KK-A7AQ-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5232ee2-18b3-4257-8a61-5d460b11ee7e	fc1ad195-6261-4275-bed6-8d52f2622b1a	g.chr17:47696426A>C	ENST00000393328.2	-	6	762	c.397T>G	c.(397-399)Ttc>Gtc	p.F133V	SPOP_ENST00000513080.1_5'Flank|SPOP_ENST00000393331.3_Missense_Mutation_p.F133V|SPOP_ENST00000347630.2_Missense_Mutation_p.F133V|SPOP_ENST00000503676.1_Missense_Mutation_p.F133V|SPOP_ENST00000504102.1_Missense_Mutation_p.F133V	NM_003563.3	NP_003554.1	O43791	SPOP_HUMAN	speckle-type POZ protein	133	Important for binding substrate proteins.|MATH. {ECO:0000255|PROSITE- ProRule:PRU00129}.|Required for nuclear localization.				glucose homeostasis (GO:0042593)|positive regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902237)|positive regulation of type B pancreatic cell apoptotic process (GO:2000676)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	Cul3-RING ubiquitin ligase complex (GO:0031463)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	ubiquitin protein ligase binding (GO:0031625)	p.F133V(4)		endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						AATTTCTTGAATCCCCAGTCT	0.448										Prostate(2;0.17)																												ENST00000393331.3																			4	Substitution - Missense(4)	p.F133V(4)	prostate(4)	endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						c.(397-399)Ttc>Gtc		speckle-type POZ protein							119	121	120					17																	47696426		2203	4300	6503	SO:0001583	missense	8405				mRNA processing	nucleus	protein binding	g.chr17:47696426A>C	AJ000644	CCDS11551.1	17q21.33	2013-01-09			ENSG00000121067	ENSG00000121067		"BTB/POZ domain containing"	11254	protein-coding gene	gene with protein product		602650				9414087	Standard	NM_001007227		Approved	TEF2, BTBD32	uc002ipg.3	O43791	OTTHUMG00000161496	ENST00000393328.2:c.397T>G	17.37:g.47696426A>C	ENSP00000377001:p.Phe133Val	Prostate(2;0.17)				SPOP_ENST00000347630.2_Missense_Mutation_p.F133V|SPOP_ENST00000503676.1_Missense_Mutation_p.F133V|SPOP_ENST00000504102.1_Missense_Mutation_p.F133V|SPOP_ENST00000393328.2_Missense_Mutation_p.F133V	p.F133V	NM_001007226.1|NM_001007227.1	NP_001007227.1|NP_001007228.1	O43791	SPOP_HUMAN			7	867	-			133			MATH.|Required for nuclear localization.		B2R6S3|D3DTW7|Q53HJ1	Missense_Mutation	SNP	ENST00000393328.2	37	c.397T>G	CCDS11551.1	.	.	.	.	.	.	.	.	.	.	A	24.6	4.550963	0.86127	.	.	ENSG00000121067	ENST00000393328;ENST00000393331;ENST00000347630;ENST00000504102;ENST00000503536;ENST00000503676;ENST00000513872;ENST00000509079;ENST00000505581;ENST00000507970;ENST00000514121	T;T;T;T;T;T;T;T;T	0.42513	0.97;0.97;0.97;0.97;0.97;0.97;0.97;0.97;0.97	5.41	5.41	0.78517	TRAF-type (1);TRAF-like (1);MATH (3);	0.000000	0.85682	D	0.000000	T	0.68632	0.3022	M	0.94021	3.485	0.80722	D	1	P	0.35155	0.487	P	0.49637	0.617	T	0.74861	-0.3520	10	0.66056	D	0.02	-9.6576	15.258	0.73599	1.0:0.0:0.0:0.0	.	133	O43791	SPOP_HUMAN	V	133;133;133;133;17;133;86;133;133;133;133	ENSP00000377001:F133V;ENSP00000377004:F133V;ENSP00000240327:F133V;ENSP00000425905:F133V;ENSP00000420908:F133V;ENSP00000426986:F133V;ENSP00000420960:F133V;ENSP00000426262:F133V;ENSP00000424119:F133V	ENSP00000240327:F133V	F	-	1	0	SPOP	45051425	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.131000	0.94446	2.261000	0.74972	0.460000	0.39030	TTC		0.448	SPOP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365154.2	NM_003563		38	70	0	0	0	1	0	38	70					C	47696426	A	C	47696426	3	2	321	1	0	0	0	0	1	0	0	0	15083	101	4	5	751	5	SPOP	17	47696426	Missense_Mutation	SNP	A	TCGA-KK-A7AQ-01A-11D-A33T-08	18500040	47696426	33498784	34	16483											
ERN1	2081	broad.mit.edu	37	chr17	62207360	62207362	+	In_Frame_Del	DEL	CAG	CAG	-																															aggccgggcagcagcagcgtCagcagcagcagcagccgccg																										TCGA-KK-A7AQ-01A-11D-A33T-08	TCGA-KK-A7AQ-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5232ee2-18b3-4257-8a61-5d460b11ee7e	fc1ad195-6261-4275-bed6-8d52f2622b1a	g.chr17:62207360_62207362delCAG	ENST00000433197.3	-	1	123_125	c.28_30delCTG	c.(28-30)ctgdel	p.L10del	ERN1_ENST00000606895.1_In_Frame_Del_p.L10del	NM_001433.3	NP_001424.3			endoplasmic reticulum to nucleus signaling 1											central_nervous_system(4)|kidney(1)|lung(2)|ovary(1)|stomach(1)	9						gcagcagcgtcagcagcagcagc	0.793																																						ENST00000433197.2																			0				central_nervous_system(4)|kidney(1)|lung(2)|ovary(1)|stomach(1)	9						c.(28-30)del		endoplasmic reticulum to nucleus signaling 1				5,14,1499		2,0,1,3,8,745						2.7	1			2	0,38,3992		0,0,0,6,26,1983	no	codingComplex	ERN1	NM_001433.3		2,0,1,9,34,2728	A1A1,A1A2,A1R,A2A2,A2R,RR		0.9429,1.2516,1.0274				5,52,5491				SO:0001651	inframe_deletion	2081				activation of signaling protein activity involved in unfolded protein response|apoptosis|cell cycle arrest|induction of apoptosis|mRNA processing|regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to endoplasmic reticulum membrane	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein binding|protein serine/threonine kinase activity	g.chr17:62207360_62207362delCAG	AF059198	CCDS45762.1	17q23	2011-08-12	2007-08-14			ENSG00000178607			3449	protein-coding gene	gene with protein product	"inositol-requiring enzyme 1"	604033	"ER to nucleus signalling 1"			9637683	Standard	NM_001433		Approved	IRE1, IRE1P	uc002jdz.2	O75460		ENST00000433197.3:c.28_30delCTG	17.37:g.62207369_62207371delCAG	ENSP00000401445:p.Leu10del					ERN1_ENST00000606895.1_In_Frame_Del_p.L10del	p.L10del	NM_001433.3	NP_001424.3	O75460	ERN1_HUMAN			1	123_125	-			10						In_Frame_Del	DEL	ENST00000433197.3	37	c.28_30delCTG	CCDS45762.1																																																																																				0.793	ERN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443734.2	NM_001433		2	4						2	4	---	---	---	---	-	62207362	CAG	-	62207360	7	5	321	1	0	1	0	1	0	0	0	0	5237	813	29	0	2991	0	ERN1	17	62207360	In_Frame_Del	DEL	CAG	TCGA-KK-A7AQ-01A-11D-A33T-08	14510934	62207360	18987850	35	16484											
DCXR	51181	broad.mit.edu	37	chr17	79995534	79995534	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgccccggtgaccagcacccGgcggcccgcgaggaacagct	7	3	14	17	5	0	1	0	1	0	0	0	3	0	2	5	4	4	2	5	4	1	0			TCGA-KK-A7AQ-01A-11D-A33T-08	TCGA-KK-A7AQ-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5232ee2-18b3-4257-8a61-5d460b11ee7e	fc1ad195-6261-4275-bed6-8d52f2622b1a	g.chr17:79995534G>A	ENST00000306869.2	-	1	74	c.25C>T	c.(25-27)Cgg>Tgg	p.R9W	DCXR_ENST00000584318.1_5'Flank|RP13-650J16.1_ENST00000582558.1_RNA|RP13-650J16.1_ENST00000584705.1_RNA	NM_001195218.1|NM_016286.3	NP_001182147.1|NP_057370.1	Q7Z4W1	DCXR_HUMAN	dicarbonyl/L-xylulose reductase	9					D-xylose metabolic process (GO:0042732)|glucose metabolic process (GO:0006006)|NADP metabolic process (GO:0006739)|oxidation-reduction process (GO:0055114)|protein homotetramerization (GO:0051289)|xylulose metabolic process (GO:0005997)	brush border (GO:0005903)|cytoplasmic microtubule (GO:0005881)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|microvillus (GO:0005902)|nucleus (GO:0005634)	L-xylulose reductase (NADP+) activity (GO:0050038)|oxidoreductase activity, acting on NAD(P)H, quinone or similar compound as acceptor (GO:0016655)			kidney(1)|lung(3)	4	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0191)			ACCAGCACCCGGCGGCCCGCG	0.746																																						ENST00000306869.2																			0				kidney(1)|lung(3)	4						c.(25-27)Cgg>Tgg		dicarbonyl/L-xylulose reductase							5	6	6					17																	79995534		1980	3986	5966	SO:0001583	missense	51181				D-xylose metabolic process|glucose metabolic process|protein homotetramerization|xylulose metabolic process	membrane	binding|L-xylulose reductase (NADP+) activity	g.chr17:79995534G>A	AB013846	CCDS11799.1	17q25.3	2011-09-14				ENSG00000169738	1.1.1.10	"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"	18985	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 20C, member 1"	608347				11882650, 19027726	Standard	NM_016286		Approved	KIDCR, DCR, SDR20C1	uc002kdg.3	Q7Z4W1		ENST00000306869.2:c.25C>T	17.37:g.79995534G>A	ENSP00000303356:p.Arg9Trp						p.R9W	NM_001195218.1|NM_016286.3	NP_001182147.1|NP_057370.1	Q7Z4W1	DCXR_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0191)		1	74	-	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		9					Q9BTZ3|Q9UHY9	Missense_Mutation	SNP	ENST00000306869.2	37	c.25C>T	CCDS11799.1	.	.	.	.	.	.	.	.	.	.	G	11.15	1.553402	0.27739	.	.	ENSG00000169738	ENST00000306869	T	0.23147	1.92	3.85	2.84	0.33178	NAD(P)-binding domain (1);	0.167949	0.40728	N	0.001030	T	0.40522	0.1120	L	0.52759	1.655	0.80722	D	1	D	0.76494	0.999	D	0.67725	0.953	T	0.10520	-1.0626	9	.	.	.	.	12.5414	0.56172	0.0:0.0:0.8321:0.1679	.	9	Q7Z4W1	DCXR_HUMAN	W	9	ENSP00000303356:R9W	.	R	-	1	2	DCXR	77588823	0.970000	0.33590	0.643000	0.29450	0.245000	0.25701	1.759000	0.38420	0.774000	0.33427	0.491000	0.48974	CGG		0.746	DCXR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442153.2			4	8	0	0	0	1	0	4	8					A	79995534	G	A	79995534	3	1	321	1	0	0	0	0	1	0	0	0	4319	1115	39	2	741	2	DCXR	17	79995534	Missense_Mutation	SNP	G	TCGA-KK-A7AQ-01A-11D-A33T-08	17788174	79995534	1199676	36	16485											
ADCYAP1	116	broad.mit.edu	37	chr18	908301	908301	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gatccttaacgaggcctaccGcaaagtgctggaccagctgt	10	8	11	12	2	0	0	0	0	0	0	1	3	1	1	4	2	4	3	4	2	3	2			TCGA-KK-A7AQ-01A-11D-A33T-08	TCGA-KK-A7AQ-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5232ee2-18b3-4257-8a61-5d460b11ee7e	fc1ad195-6261-4275-bed6-8d52f2622b1a	g.chr18:908301G>A	ENST00000579794.1	+	3	556	c.278G>A	c.(277-279)cGc>cAc	p.R93H	RP11-672L10.2_ENST00000581719.2_RNA|RP11-672L10.2_ENST00000577358.1_RNA|RP11-672L10.3_ENST00000582554.1_RNA|ADCYAP1_ENST00000450565.3_Missense_Mutation_p.R93H	NM_001117.3	NP_001108.2	P18509	PACA_HUMAN	adenylate cyclase activating polypeptide 1 (pituitary)	93					activation of adenylate cyclase activity (GO:0007190)|ATP metabolic process (GO:0046034)|behavioral fear response (GO:0001662)|cAMP-mediated signaling (GO:0019933)|cell-cell signaling (GO:0007267)|cellular response to glucocorticoid stimulus (GO:0071385)|female pregnancy (GO:0007565)|histamine secretion (GO:0001821)|negative regulation of acute inflammatory response to antigenic stimulus (GO:0002865)|negative regulation of acute inflammatory response to non-antigenic stimulus (GO:0002878)|negative regulation of cell cycle (GO:0045786)|negative regulation of glial cell proliferation (GO:0060253)|negative regulation of muscle cell apoptotic process (GO:0010656)|negative regulation of potassium ion transport (GO:0043267)|negative regulation of Rho GTPase activity (GO:0034259)|neuron projection development (GO:0031175)|neuropeptide signaling pathway (GO:0007218)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ovarian follicle development (GO:0001541)|pituitary gland development (GO:0021983)|positive regulation of adenylate cyclase activity involved in G-protein coupled receptor signaling pathway (GO:0010579)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of growth hormone secretion (GO:0060124)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of Rap GTPase activity (GO:0032854)|positive regulation of somatostatin secretion (GO:0090274)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasodilation (GO:0045909)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of oligodendrocyte progenitor proliferation (GO:0070445)|regulation of postsynaptic membrane potential (GO:0060078)|regulation of protein localization (GO:0032880)|response to ethanol (GO:0045471)|response to starvation (GO:0042594)|sensory perception of pain (GO:0019233)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|terminal bouton (GO:0043195)	neuropeptide hormone activity (GO:0005184)|peptide hormone receptor binding (GO:0051428)|pituitary adenylate cyclase activating polypeptide activity (GO:0016521)|receptor binding (GO:0005102)|receptor signaling protein activity (GO:0005057)			endometrium(1)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)	12						GAGGCCTACCGCAAAGTGCTG	0.647																																						ENST00000579794.1																			0				endometrium(1)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)	12						c.(277-279)cGc>cAc		adenylate cyclase activating polypeptide 1 (pituitary)							27	28	28					18																	908301		2202	4299	6501	SO:0001583	missense	116				activation of adenylate cyclase activity|cell-cell signaling|female pregnancy|nerve growth factor receptor signaling pathway|regulation of G-protein coupled receptor protein signaling pathway	extracellular region|soluble fraction	neuropeptide hormone activity|peptide hormone receptor binding	g.chr18:908301G>A	S83513	CCDS11825.1	18p11	2013-02-28			ENSG00000141433	ENSG00000141433		"Endogenous ligands"	241	protein-coding gene	gene with protein product	"prepro-PACAP"	102980				1730060	Standard	NM_001099733		Approved	PACAP	uc010dkh.4	P18509	OTTHUMG00000131479	ENST00000579794.1:c.278G>A	18.37:g.908301G>A	ENSP00000462647:p.Arg93His					ADCYAP1_ENST00000450565.3_Missense_Mutation_p.R93H	p.R93H	NM_001117.3	NP_001108.2	P18509	PACA_HUMAN			3	556	+			93					B2R7N4|Q52LQ0	Missense_Mutation	SNP	ENST00000579794.1	37	c.278G>A	CCDS11825.1	.	.	.	.	.	.	.	.	.	.	G	35	5.539356	0.96474	.	.	ENSG00000141433	ENST00000450565;ENST00000400219;ENST00000269200	.	.	.	5.23	5.23	0.72850	Glucagon/GIP/secretin/VIP (2);	0.047373	0.85682	D	0.000000	D	0.84147	0.5408	M	0.85777	2.775	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	D	0.86536	0.1825	9	0.66056	D	0.02	.	18.4206	0.90588	0.0:0.0:1.0:0.0	.	93	P18509	PACA_HUMAN	H	232;93;93	.	ENSP00000269200:R93H	R	+	2	0	ADCYAP1	898301	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.255000	0.78338	2.439000	0.82584	0.563000	0.77884	CGC		0.647	ADCYAP1-003	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440765.3	NM_001117		3	24	0	0	0	1	0	3	24					A	908301	G	A	908301	3	1	321	1	0	0	0	0	1	0	0	0	302	1087	38	1	288	1	ADCYAP1	18	908301	Missense_Mutation	SNP	G	TCGA-KK-A7AQ-01A-11D-A33T-08		908301	77168947	37	16486											
SERPINB8	5271	broad.mit.edu	37	chr18	61654457	61654457	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccacccttttcttttcttcaTcaggcaccacaaaaccaact	11	12	2	16	0	4	0	2	0	2	0	4	0	4	0	4	1	2	1	4	1	3	5			TCGA-KK-A7AQ-01A-11D-A33T-08	TCGA-KK-A7AQ-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5232ee2-18b3-4257-8a61-5d460b11ee7e	fc1ad195-6261-4275-bed6-8d52f2622b1a	g.chr18:61654457T>G	ENST00000397985.2	+	7	1326	c.1070T>G	c.(1069-1071)aTc>aGc	p.I357S	SERPINB8_ENST00000353706.2_Missense_Mutation_p.I357S|SERPINB8_ENST00000493661.1_Intron|SERPINB8_ENST00000542677.1_Missense_Mutation_p.I175S	NM_001276490.1	NP_001263419.1	P50452	SPB8_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 8	357					negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(2)|kidney(1)|large_intestine(4)|lung(9)|skin(1)	17		Esophageal squamous(42;0.129)				CTTTTCTTCATCAGGCACCAC	0.507																																						ENST00000397985.2																			0				breast(2)|kidney(1)|large_intestine(4)|lung(9)|skin(1)	17						c.(1069-1071)aTc>aGc		serpin peptidase inhibitor, clade B (ovalbumin), member 8							99	98	99					18																	61654457		2203	4300	6503	SO:0001583	missense	5271				regulation of proteolysis	cytosol	protein binding|serine-type endopeptidase inhibitor activity	g.chr18:61654457T>G	L40377	CCDS11991.1, CCDS42442.1, CCDS62460.1	18q22.1	2014-02-18	2005-08-18		ENSG00000166401	ENSG00000166401		"Serine (or cysteine) peptidase inhibitors"	8952	protein-coding gene	gene with protein product	"cytoplasmic antiproteinase 2"	601697	"serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 8"	PI8		8530382, 9268635, 24172014	Standard	NM_198833		Approved	CAP2	uc002lju.3	P50452	OTTHUMG00000060596	ENST00000397985.2:c.1070T>G	18.37:g.61654457T>G	ENSP00000381072:p.Ile357Ser					SERPINB8_ENST00000493661.1_Intron|SERPINB8_ENST00000353706.2_Missense_Mutation_p.I357S|SERPINB8_ENST00000542677.1_Missense_Mutation_p.I175S	p.I357S	NM_001276490.1	NP_001263419.1	P50452	SPB8_HUMAN			7	1326	+		Esophageal squamous(42;0.129)	357					B4DTW2|Q7Z2V6|Q8N178	Missense_Mutation	SNP	ENST00000397985.2	37	c.1070T>G	CCDS11991.1	.	.	.	.	.	.	.	.	.	.	T	20.8	4.053353	0.75960	.	.	ENSG00000166401	ENST00000397985;ENST00000353706;ENST00000542677	D;D;T	0.88975	-2.45;-2.45;1.95	5.65	5.65	0.86999	Serpin domain (3);Protease inhibitor I4, serpin, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.97049	0.9036	H	0.99074	4.42	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.98604	1.0660	10	0.87932	D	0	.	15.2098	0.73214	0.0:0.0:0.0:1.0	.	357	P50452	SPB8_HUMAN	S	357;357;175	ENSP00000381072:I357S;ENSP00000331368:I357S;ENSP00000438328:I175S	ENSP00000331368:I357S	I	+	2	0	SERPINB8	59805437	1.000000	0.71417	0.948000	0.38648	0.511000	0.34104	7.789000	0.85783	2.371000	0.80710	0.533000	0.62120	ATC		0.507	SERPINB8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000134014.1	NM_001031848		38	38	0	0	0	1	0	38	38					G	61654457	T	G	61654457	3	3	321	1	0	0	0	0	1	0	0	0	14107	1435	50	5	1105	5	SERPINB8	18	61654457	Missense_Mutation	SNP	T	TCGA-KK-A7AQ-01A-11D-A33T-08	60746156	61654457	16422791	38	16487											
ZNF208	7757	broad.mit.edu	37	chr19	22154452	22154452	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgaattaccttatgtttagtAaggattgagaacgtactaaa	15	14	8	4	1	0	2	0	2	0	1	0	4	0	3	1	1	3	3	1	1	9	8			TCGA-KK-A7AQ-01A-11D-A33T-08	TCGA-KK-A7AQ-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5232ee2-18b3-4257-8a61-5d460b11ee7e	fc1ad195-6261-4275-bed6-8d52f2622b1a	g.chr19:22154452A>G	ENST00000397126.4	-	4	3532	c.3384T>C	c.(3382-3384)ctT>ctC	p.L1128L	ZNF208_ENST00000599916.1_Intron|ZNF208_ENST00000601773.1_Intron	NM_007153.3	NP_009084.2	O43345	ZN208_HUMAN	zinc finger protein 208	1128					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.L1000L(2)|p.L1128L(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				TATGTTTAGTAAGGATTGAGA	0.373																																						ENST00000397126.4																			3	Substitution - coding silent(3)	p.L1000L(2)|p.L1128L(1)	lung(3)	breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113						c.(3382-3384)ctT>ctC		zinc finger protein 208							57	61	60					19																	22154452		2123	4245	6368	SO:0001819	synonymous_variant	7757							g.chr19:22154452A>G	BC038199	CCDS54240.1	19p12	2013-01-08				ENSG00000160321		"Zinc fingers, C2H2-type", "-"	12999	protein-coding gene	gene with protein product	"zinc finger protein 95"	603977				9724325	Standard	NM_007153		Approved	PMIDP, ZNF95	uc021urr.1	O43345		ENST00000397126.4:c.3384T>C	19.37:g.22154452A>G						ZNF208_ENST00000599916.1_Intron|ZNF208_ENST00000601773.1_Intron	p.L1128L	NM_007153.3	NP_009084.2					4	3532	-		all_lung(12;0.0961)|Lung NSC(12;0.103)							Silent	SNP	ENST00000397126.4	37	c.3384T>C	CCDS54240.1																																																																																				0.373	ZNF208-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464302.1	NM_007153		3	58	0	0	0	1	0	3	58					G	22154452	A	G	22154452	2	3	321	1	0	0	0	0	0	0	0	1	17763	349	13	4		4	ZNF208	19	22154452	Silent	SNP	A	TCGA-KK-A7AQ-01A-11D-A33T-08		22154452	36974531	39	16488											
FPR1	2357	broad.mit.edu	37	chr19	52249535	52249535	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggagaggacccgtaagggaCgactggacttaatcaagcct	13	6	13	9	2	1	1	1	0	0	1	1	6	1	4	2	4	1	1	2	4	3	2	rs368075541		TCGA-KK-A7AQ-01A-11D-A33T-08	TCGA-KK-A7AQ-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5232ee2-18b3-4257-8a61-5d460b11ee7e	fc1ad195-6261-4275-bed6-8d52f2622b1a	g.chr19:52249535C>T	ENST00000595042.1	-	3	854	c.713G>A	c.(712-714)cGt>cAt	p.R238H	FPR1_ENST00000304748.4_Missense_Mutation_p.R238H	NM_001193306.1	NP_001180235.1	P21462	FPR1_HUMAN	formyl peptide receptor 1	238				R -> P (in Ref. 1; AAA36362). {ECO:0000305}.	activation of MAPK activity (GO:0000187)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cellular component movement (GO:0006928)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|nitric oxide mediated signal transduction (GO:0007263)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|signal transduction (GO:0007165)	endosome (GO:0005768)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	N-formyl peptide receptor activity (GO:0004982)|receptor activity (GO:0004872)			endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(3)	20		all_neural(266;0.0189)|Medulloblastoma(540;0.146)		GBM - Glioblastoma multiforme(134;0.00106)|OV - Ovarian serous cystadenocarcinoma(262;0.018)	Nedocromil(DB00716)	CCGTAAGGGACGACTGGACTT	0.517																																						ENST00000595042.1																			0				endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(3)	20						c.(712-714)cGt>cAt		formyl peptide receptor 1	Nedocromil(DB00716)	C	HIS/ARG,HIS/ARG	1,4405		0,1,2202	89	80	83		713,713	2.5	0.3	19		83	1,8599		0,1,4299	no	missense,missense	FPR1	NM_001193306.1,NM_002029.3	29,29	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	probably-damaging,probably-damaging	238/351,238/351	52249535	2,13004	2203	4300	6503	SO:0001583	missense	2357				activation of MAPK activity|cellular component movement|chemotaxis|G-protein signaling, coupled to cAMP nucleotide second messenger|nitric oxide mediated signal transduction	endosome|integral to membrane|plasma membrane	N-formyl peptide receptor activity	g.chr19:52249535C>T	M60627	CCDS12839.1	19q13.41	2014-09-17				ENSG00000171051		"GPCR / Class A : Formyl peptide receptors"	3826	protein-coding gene	gene with protein product		136537				2161213, 12595898	Standard	NM_001193306		Approved	FPR, FMLP	uc002pxq.3	P21462		ENST00000595042.1:c.713G>A	19.37:g.52249535C>T	ENSP00000471493:p.Arg238His					FPR1_ENST00000304748.4_Missense_Mutation_p.R238H	p.R238H	NM_001193306.1	NP_001180235.1	P21462	FPR1_HUMAN		GBM - Glioblastoma multiforme(134;0.00106)|OV - Ovarian serous cystadenocarcinoma(262;0.018)	3	854	-		all_neural(266;0.0189)|Medulloblastoma(540;0.146)	238	R -> P (in Ref. 1; AAA36362).				Q14939|Q7Z6A4|Q86U52|Q9NS48	Missense_Mutation	SNP	ENST00000595042.1	37	c.713G>A	CCDS12839.1	.	.	.	.	.	.	.	.	.	.	.	13.56	2.274424	0.40194	2.27E-4	1.16E-4	ENSG00000171051	ENST00000304748	T	0.43688	0.94	3.58	2.53	0.30540	GPCR, rhodopsin-like superfamily (1);	0.079325	0.44483	D	0.000455	T	0.53270	0.1786	M	0.89715	3.055	0.34259	D	0.679721	D	0.53312	0.959	P	0.48982	0.597	T	0.67264	-0.5714	10	0.62326	D	0.03	.	6.2956	0.21085	0.0:0.7549:0.0:0.2451	.	238	P21462	FPR1_HUMAN	H	238	ENSP00000302707:R238H	ENSP00000302707:R238H	R	-	2	0	FPR1	56941347	0.872000	0.30054	0.289000	0.24876	0.138000	0.21146	1.844000	0.39269	0.780000	0.33566	0.603000	0.83216	CGT		0.517	FPR1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466905.1	NM_002029		9	28	0	0	0	1	0	9	28					T	52249535	C	T	52249535	3	4	321	1	0	0	0	0	1	0	0	0	6038	536	19	1	343	1	FPR1	19	52249535	Missense_Mutation	SNP	C	TCGA-KK-A7AQ-01A-11D-A33T-08	30095083	52249535	6879448	40	16489											
CLIC6	54102	broad.mit.edu	37	chr21	36043027	36043027	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcgtccgagccccgggcccTggggcaggagcacgacatca	7	3	16	15	4	1	0	1	0	0	0	2	3	2	1	4	5	2	2	4	5	0	0			TCGA-KK-A7AQ-01A-11D-A33T-08	TCGA-KK-A7AQ-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5232ee2-18b3-4257-8a61-5d460b11ee7e	fc1ad195-6261-4275-bed6-8d52f2622b1a	g.chr21:36043027T>C	ENST00000360731.3	+	1	1340	c.1340T>C	c.(1339-1341)cTg>cCg	p.L447P	CLIC6_ENST00000349499.2_Missense_Mutation_p.L447P			Q96NY7	CLIC6_HUMAN	chloride intracellular channel 6	447						chloride channel complex (GO:0034707)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	voltage-gated chloride channel activity (GO:0005247)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	19						CCCCGGGCCCTGGGGCAGGAG	0.667																																						ENST00000360731.3																			0				breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	19						c.(1339-1341)cTg>cCg		chloride intracellular channel 6							12	18	16					21																	36043027		1845	3855	5700	SO:0001583	missense	54102					chloride channel complex|cytoplasm|plasma membrane	voltage-gated chloride channel activity	g.chr21:36043027T>C	AF426169	CCDS13638.1	21q22.12	2012-09-26			ENSG00000159212	ENSG00000159212		"Ion channels / Chloride channels : Intracellular"	2065	protein-coding gene	gene with protein product		615321		CLIC1L		10830953	Standard	NM_053277		Approved	CLIC5	uc002yuf.1	Q96NY7	OTTHUMG00000086237	ENST00000360731.3:c.1340T>C	21.37:g.36043027T>C	ENSP00000353959:p.Leu447Pro					CLIC6_ENST00000349499.2_Missense_Mutation_p.L447P	p.L447P			Q96NY7	CLIC6_HUMAN			1	1340	+			447					A8K0U8|Q8IX31	Missense_Mutation	SNP	ENST00000360731.3	37	c.1340T>C		.	.	.	.	.	.	.	.	.	.	T	6.934	0.542042	0.13250	.	.	ENSG00000159212	ENST00000360731;ENST00000349499	T;T	0.23552	1.9;1.94	4.11	-0.0588	0.13796	.	1.737720	0.03677	N	0.244981	T	0.11580	0.0282	N	0.04203	-0.255	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.20107	-1.0285	10	0.23302	T	0.38	0.0	4.2873	0.10862	0.1916:0.3487:0.0:0.4597	.	447;447	Q96NY7;Q96NY7-2	CLIC6_HUMAN;.	P	447	ENSP00000353959:L447P;ENSP00000290332:L447P	ENSP00000290332:L447P	L	+	2	0	CLIC6	34964897	0.002000	0.14202	0.001000	0.08648	0.803000	0.45373	0.073000	0.14640	-0.183000	0.10585	-0.292000	0.09595	CTG		0.667	CLIC6-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000194156.1			9	9	0	0	0	1	0	9	9					C	36043027	T	C	36043027	3	2	321	1	0	0	0	0	1	0	0	0	3530	1580	55	4	1342	4	CLIC6	21	36043027	Missense_Mutation	SNP	T	TCGA-KK-A7AQ-01A-11D-A33T-08		36043027	12086868	41	16490											
MAMLD1	10046	broad.mit.edu	37	chrX	149639651	149639651	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctgcagcagcagcagcagcaAcagcagcagcagcctgacca	13	2	11	15	0	0	1	0	1	0	0	0	1	0	1	2	0	11	9	2	0	1	0			TCGA-KK-A7AQ-01A-11D-A33T-08	TCGA-KK-A7AQ-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5232ee2-18b3-4257-8a61-5d460b11ee7e	fc1ad195-6261-4275-bed6-8d52f2622b1a	g.chrX:149639651A>G	ENST00000370401.2	+	4	2116	c.1806A>G	c.(1804-1806)caA>caG	p.Q602Q	MAMLD1_ENST00000262858.5_Silent_p.Q602Q|MAMLD1_ENST00000426613.2_Silent_p.Q577Q|MAMLD1_ENST00000432680.2_Silent_p.Q577Q|MAMLD1_ENST00000455522.2_Silent_p.Q83Q			Q13495	MAMD1_HUMAN	mastermind-like domain containing 1	602	Poly-Gln.				male gonad development (GO:0008584)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				breast(1)|endometrium(4)|kidney(3)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)	37	Acute lymphoblastic leukemia(192;6.56e-05)					agcagcagcaacagcagcagc	0.602																																						ENST00000370401.2																			0				breast(1)|endometrium(4)|kidney(3)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)	37						c.(1804-1806)caA>caG		mastermind-like domain containing 1							77	68	71					X																	149639651		2203	4300	6503	SO:0001819	synonymous_variant	10046				male gonad development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chrX:149639651A>G	U46023	CCDS14693.2, CCDS55525.1, CCDS55526.1	Xq28	2008-02-05	2008-01-03	2008-01-03	ENSG00000013619	ENSG00000013619			2568	protein-coding gene	gene with protein product		300120	"chromosome X open reading frame 6"	CXorf6		9169146, 17086185, 18162467	Standard	NM_001177465		Approved	CG1, F18	uc011mxu.2	Q13495	OTTHUMG00000024157	ENST00000370401.2:c.1806A>G	X.37:g.149639651A>G						MAMLD1_ENST00000432680.2_Silent_p.Q577Q|MAMLD1_ENST00000455522.2_Silent_p.Q83Q|MAMLD1_ENST00000426613.2_Silent_p.Q577Q|MAMLD1_ENST00000262858.5_Silent_p.Q602Q	p.Q602Q			Q13495	MAMD1_HUMAN			4	2116	+	Acute lymphoblastic leukemia(192;6.56e-05)		602			Poly-Gln.		B2RCQ4|B4DG93|B9EGA5	Silent	SNP	ENST00000370401.2	37	c.1806A>G	CCDS14693.2																																																																																				0.602	MAMLD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000060844.2	NM_005491		3	47	0	0	0	1	0	3	47					G	149639651	A	G	149639651	2	3	321	1	0	0	0	0	0	0	0	1	9208	40	2	4		4	MAMLD1	23	149639651	Silent	SNP	A	TCGA-KK-A7AQ-01A-11D-A33T-08		149639651	5630909	42	16491											
ACTRT2	140625	broad.mit.edu	37	chr1	2939177	2939177	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggggcactaccctgttccaCgggctggatgaccggcttct	5	9	14	13	2	1	1	0	1	1	0	2	2	2	2	3	5	1	4	3	5	1	3			TCGA-KK-A7AU-01A-11D-A32B-08	TCGA-KK-A7AU-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce4c568d-84ca-4819-a08b-7dca4ad7fc1a	f59ccc77-35be-4949-8994-517c407d30fd	g.chr1:2939177C>T	ENST00000378404.2	+	1	1132	c.927C>T	c.(925-927)caC>caT	p.H309H		NM_080431.4	NP_536356.3	Q8TDY3	ACTT2_HUMAN	actin-related protein T2	309						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(15)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	26	all_cancers(77;0.00205)|all_epithelial(69;0.0011)|Ovarian(185;0.0634)|Lung NSC(156;0.0893)|all_lung(157;0.0909)	all_epithelial(116;2.66e-20)|all_lung(118;1.56e-08)|Lung NSC(185;2.54e-06)|Breast(487;0.00156)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;7.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.15e-22)|GBM - Glioblastoma multiforme(42;1.1e-12)|Colorectal(212;3.98e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.000329)|BRCA - Breast invasive adenocarcinoma(365;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.125)		CCCTGTTCCACGGGCTGGATG	0.592																																						ENST00000378404.2																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(15)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	26						c.(925-927)caC>caT		actin-related protein T2							51	59	56					1																	2939177		2202	4300	6502	SO:0001819	synonymous_variant	140625					cytoplasm|cytoskeleton		g.chr1:2939177C>T	AF440740, AB057364	CCDS45.1	1p36.3	2008-02-05	2005-11-22		ENSG00000169717	ENSG00000169717			24026	protein-coding gene	gene with protein product		608535				11750065, 12243744	Standard	NM_080431		Approved	Arp-T2, ARPM2, FLJ25424	uc001ajz.3	Q8TDY3	OTTHUMG00000000562	ENST00000378404.2:c.927C>T	1.37:g.2939177C>T							p.H309H	NM_080431.4	NP_536356.3	Q8TDY3	ACTT2_HUMAN		Epithelial(90;7.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.15e-22)|GBM - Glioblastoma multiforme(42;1.1e-12)|Colorectal(212;3.98e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.000329)|BRCA - Breast invasive adenocarcinoma(365;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.125)	1	1132	+	all_cancers(77;0.00205)|all_epithelial(69;0.0011)|Ovarian(185;0.0634)|Lung NSC(156;0.0893)|all_lung(157;0.0909)	all_epithelial(116;2.66e-20)|all_lung(118;1.56e-08)|Lung NSC(185;2.54e-06)|Breast(487;0.00156)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)	309					B1AN52|Q8NHS6|Q8TDG1	Silent	SNP	ENST00000378404.2	37	c.927C>T	CCDS45.1																																																																																				0.592	ACTRT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001331.1	NM_080431		46	73	0	0	0	1	0	46	73					T	2939177	C	T	2939177	2	4	322	1	0	0	0	0	0	0	0	1	219	535	19	1		1	ACTRT2	1	2939177	Silent	SNP	C	TCGA-KK-A7AU-01A-11D-A32B-08		2939177	246311444	1	16492											
SV2A	9900	broad.mit.edu	37	chr1	149884966	149884966	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggccagttcttctcgttcttTccgtcgttgtgcctcccccc	1	15	8	17	3	3	0	0	0	3	0	7	0	5	0	6	1	1	3	6	1	0	5			TCGA-KK-A7AU-01A-11D-A32B-08	TCGA-KK-A7AU-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce4c568d-84ca-4819-a08b-7dca4ad7fc1a	f59ccc77-35be-4949-8994-517c407d30fd	g.chr1:149884966T>C	ENST00000369146.3	-	2	917	c.427A>G	c.(427-429)Aaa>Gaa	p.K143E	SV2A_ENST00000369145.1_Missense_Mutation_p.K143E	NM_001278719.1|NM_014849.3	NP_001265648.1|NP_055664.3	Q7L0J3	SV2A_HUMAN	synaptic vesicle glycoprotein 2A	143					cellular calcium ion homeostasis (GO:0006874)|neurotransmitter transport (GO:0006836)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuromuscular junction (GO:0031594)|neuron projection (GO:0043005)|presynaptic active zone (GO:0048786)|synaptic vesicle (GO:0008021)|synaptic vesicle membrane (GO:0030672)	protein kinase binding (GO:0019901)|receptor activity (GO:0004872)|transmembrane transporter activity (GO:0022857)			breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(16)|ovary(6)|pancreas(1)|prostate(8)|skin(2)|urinary_tract(2)	55	Breast(34;0.00769)|all_hematologic(923;0.127)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)		Levetiracetam(DB01202)	TCTCGTTCTTTCCGTCGTTGT	0.637																																						ENST00000369146.3																			0				breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(16)|ovary(6)|pancreas(1)|prostate(8)|skin(2)|urinary_tract(2)	55						c.(427-429)Aaa>Gaa		synaptic vesicle glycoprotein 2A	Levetiracetam(DB01202)						113	113	113					1																	149884966		2203	4300	6503	SO:0001583	missense	0				neurotransmitter transport	cell junction|endoplasmic reticulum|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity	g.chr1:149884966T>C	AB018279	CCDS940.1	1q21.2	2008-02-05			ENSG00000159164	ENSG00000159164			20566	protein-coding gene	gene with protein product		185860				7681585, 10611374	Standard	NM_014849		Approved	SV2, KIAA0736	uc001etg.3	Q7L0J3	OTTHUMG00000012209	ENST00000369146.3:c.427A>G	1.37:g.149884966T>C	ENSP00000358142:p.Lys143Glu					SV2A_ENST00000369145.1_Missense_Mutation_p.K143E	p.K143E	NM_014849.3	NP_055664.3	Q7L0J3	SV2A_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)		2	917	-	Breast(34;0.00769)|all_hematologic(923;0.127)|Colorectal(459;0.171)		143					D3DUZ7|O94841|Q5QNX8|Q7Z3L6|Q8NBJ6|Q9BVZ9	Missense_Mutation	SNP	ENST00000369146.3	37	c.427A>G	CCDS940.1	.	.	.	.	.	.	.	.	.	.	T	9.659	1.143658	0.21205	.	.	ENSG00000159164	ENST00000369146;ENST00000369145	T;T	0.66995	0.78;-0.24	5.07	5.07	0.68467	Major facilitator superfamily domain, general substrate transporter (1);	0.126562	0.51477	D	0.000089	T	0.29288	0.0729	N	0.25144	0.715	0.58432	D	0.999999	B	0.11235	0.004	B	0.09377	0.004	T	0.23297	-1.0192	10	0.02654	T	1	-13.4933	14.1554	0.65415	0.0:0.0:0.0:1.0	.	143	Q7L0J3	SV2A_HUMAN	E	143	ENSP00000358142:K143E;ENSP00000358141:K143E	ENSP00000358141:K143E	K	-	1	0	SV2A	148151590	0.990000	0.36364	1.000000	0.80357	0.987000	0.75469	1.752000	0.38349	2.128000	0.65567	0.455000	0.32223	AAA		0.637	SV2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033754.1			23	45	0	0	0	1	0	23	45					C	149884966	T	C	149884966	3	2	322	1	0	0	0	0	1	0	0	0	15414	1792	62	4	1849	4	SV2A	1	149884966	Missense_Mutation	SNP	T	TCGA-KK-A7AU-01A-11D-A32B-08	146945789	149884966	99365655	2	16493											
FCRL1	115350	broad.mit.edu	37	chr1	157771741	157771741	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	caccgcctcactgcgctgggCccccaggccattgttggcct	4	8	11	18	2	1	0	1	0	0	0	1	0	1	0	6	3	1	2	6	3	0	2	rs200955967		TCGA-KK-A7AU-01A-11D-A32B-08	TCGA-KK-A7AU-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce4c568d-84ca-4819-a08b-7dca4ad7fc1a	f59ccc77-35be-4949-8994-517c407d30fd	g.chr1:157771741C>A	ENST00000368176.3	-	5	917	c.850G>T	c.(850-852)Gcc>Tcc	p.A284S	FCRL1_ENST00000358292.3_Missense_Mutation_p.A284S|FCRL1_ENST00000491942.1_Missense_Mutation_p.A284S|FCRL1_ENST00000489998.1_5'UTR	NM_001159398.1|NM_052938.4	NP_001152870.1|NP_443170.1	Q96LA6	FCRL1_HUMAN	Fc receptor-like 1	284	Ig-like C2-type 3.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(24)|ovary(4)|prostate(1)|skin(6)	42	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			CTGCGCTGGGCCCCCAGGCCA	0.562																																					GBM(54;482 1003 11223 30131 35730)	ENST00000358292.3																			0				breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(24)|ovary(4)|prostate(1)|skin(6)	42						c.(850-852)Gcc>Tcc		Fc receptor-like 1							79	83	82					1																	157771741		2203	4300	6503	SO:0001583	missense	115350					integral to membrane|plasma membrane	receptor activity	g.chr1:157771741C>A	BC033690	CCDS1170.1, CCDS53382.1, CCDS53383.1	1q21-q22	2013-01-14			ENSG00000163534	ENSG00000163534		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	18509	protein-coding gene	gene with protein product		606508				11493702, 11929751	Standard	NM_052938		Approved	FCRH1, IRTA5, IFGP1, CD307a	uc001frg.3	Q96LA6	OTTHUMG00000019398	ENST00000368176.3:c.850G>T	1.37:g.157771741C>A	ENSP00000357158:p.Ala284Ser					FCRL1_ENST00000491942.1_Missense_Mutation_p.A284S|FCRL1_ENST00000368176.3_Missense_Mutation_p.A284S|FCRL1_ENST00000489998.1_5'UTR	p.A284S	NM_001159397.1	NP_001152869.1	Q96LA6	FCRL1_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.24)		5	901	-	all_hematologic(112;0.0378)		284			Ig-like C2-type 3.		B2RE05|Q8N759|Q8NDI0|Q96PJ6	Missense_Mutation	SNP	ENST00000368176.3	37	c.850G>T	CCDS1170.1	.	.	.	.	.	.	.	.	.	.	C	13.31	2.199536	0.38806	.	.	ENSG00000163534	ENST00000358292;ENST00000368176;ENST00000491942	T;T;T	0.02395	4.31;4.31;4.31	5.1	2.11	0.27256	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	1.520850	0.03430	N	0.207609	T	0.01730	0.0055	L	0.45698	1.435	0.09310	N	1	P;P;D	0.56521	0.57;0.73;0.976	B;P;P	0.50109	0.202;0.495;0.631	T	0.46317	-0.9200	10	0.13853	T	0.58	.	7.4085	0.27004	0.0:0.5899:0.3218:0.0883	.	284;284;284	Q96LA6-3;Q96LA6-2;Q96LA6	.;.;FCRL1_HUMAN	S	284	ENSP00000351039:A284S;ENSP00000357158:A284S;ENSP00000418130:A284S	ENSP00000351039:A284S	A	-	1	0	FCRL1	156038365	0.000000	0.05858	0.002000	0.10522	0.873000	0.50193	-0.555000	0.05999	0.379000	0.24794	0.650000	0.86243	GCC		0.562	FCRL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051401.1	NM_052938		32	40	1	0	6.84511e-11	1	7.75779e-11	32	40					A	157771741	C	A	157771741	3	1	322	1	0	0	0	0	1	0	0	0	5794	739	26	5	533	5	FCRL1	1	157771741	Missense_Mutation	SNP	C	TCGA-KK-A7AU-01A-11D-A32B-08	7886775	157771741	91478880	3	16494											
ZNF648	127665	broad.mit.edu	37	chr1	182025561	182025561	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcacactggtagggcctctCtccgttgtgcattcgtatgt	5	14	10	12	2	2	0	1	0	1	0	5	0	3	0	2	2	1	4	2	2	2	4			TCGA-KK-A7AU-01A-11D-A32B-08	TCGA-KK-A7AU-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce4c568d-84ca-4819-a08b-7dca4ad7fc1a	f59ccc77-35be-4949-8994-517c407d30fd	g.chr1:182025561C>A	ENST00000339948.3	-	2	1792	c.1585G>T	c.(1585-1587)Gag>Tag	p.E529*		NM_001009992.1	NP_001009992.1	Q5T619	ZN648_HUMAN	zinc finger protein 648	529					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(7)|large_intestine(10)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	40						TAGGGCCTCTCTCCGTTGTGC	0.612																																					NSCLC(71;908 1374 5429 20458 35642)	ENST00000339948.3																			0				breast(1)|endometrium(7)|large_intestine(10)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	40						c.(1585-1587)Gag>Tag		zinc finger protein 648							159	125	137					1																	182025561		2203	4300	6503	SO:0001587	stop_gained	127665				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:182025561C>A	AK128654	CCDS30952.1	1q25.3	2013-01-08			ENSG00000179930	ENSG00000179930		"Zinc fingers, C2H2-type"	18190	protein-coding gene	gene with protein product							Standard	NM_001009992		Approved	FLJ46813	uc001goz.3	Q5T619	OTTHUMG00000037302	ENST00000339948.3:c.1585G>T	1.37:g.182025561C>A	ENSP00000344129:p.Glu529*						p.E529*	NM_001009992.1	NP_001009992.1	Q5T619	ZN648_HUMAN			2	1792	-			529					B2RP16	Nonsense_Mutation	SNP	ENST00000339948.3	37	c.1585G>T	CCDS30952.1	.	.	.	.	.	.	.	.	.	.	C	38	6.921294	0.97936	.	.	ENSG00000179930	ENST00000339948	.	.	.	2.77	1.81	0.25067	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	8.8524	0.35208	0.2254:0.7746:0.0:0.0	.	.	.	.	X	529	.	ENSP00000344129:E529X	E	-	1	0	ZNF648	180292184	0.406000	0.25344	0.988000	0.46212	0.991000	0.79684	1.422000	0.34826	0.672000	0.31204	0.655000	0.94253	GAG		0.612	ZNF648-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090794.1	XM_060597		3	29	1	0	0.004672	1	0.00476544	3	29					A	182025561	C	A	182025561	4	1	322	1	0	0	0	0	0	1	0	0	18060	922	32	5	125	5	ZNF648	1	182025561	Nonsense_Mutation	SNP	C	TCGA-KK-A7AU-01A-11D-A32B-08	24253820	182025561	67225060	4	16495											
EPRS	2058	broad.mit.edu	37	chr1	220195728	220195728	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttggatgtggttgaattttgCagcgataaagggttggatct	9	15	14	3	1	1	1	0	1	1	0	1	4	1	3	0	4	2	3	0	4	3	6			TCGA-KK-A7AU-01A-11D-A32B-08	TCGA-KK-A7AU-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce4c568d-84ca-4819-a08b-7dca4ad7fc1a	f59ccc77-35be-4949-8994-517c407d30fd	g.chr1:220195728C>T	ENST00000366923.3	-	9	1345	c.1076G>A	c.(1075-1077)tGc>tAc	p.C359Y		NM_004446.2	NP_004437.2	P07814	SYEP_HUMAN	glutamyl-prolyl-tRNA synthetase	359	Glutamate--tRNA ligase.				cellular response to interferon-gamma (GO:0071346)|gene expression (GO:0010467)|glutamyl-tRNA aminoacylation (GO:0006424)|negative regulation of translation (GO:0017148)|prolyl-tRNA aminoacylation (GO:0006433)|protein complex assembly (GO:0006461)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|GAIT complex (GO:0097452)|membrane (GO:0016020)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|glutamate-tRNA ligase activity (GO:0004818)|proline-tRNA ligase activity (GO:0004827)|RNA stem-loop binding (GO:0035613)			breast(2)|endometrium(11)|kidney(2)|large_intestine(13)|lung(24)|ovary(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(3)	63				GBM - Glioblastoma multiforme(131;0.0735)	L-Proline(DB00172)	TTGAATTTTGCAGCGATAAAG	0.378																																						ENST00000366923.3																			0				breast(2)|endometrium(11)|kidney(2)|large_intestine(13)|lung(24)|ovary(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(3)	63						c.(1075-1077)tGc>tAc		glutamyl-prolyl-tRNA synthetase	L-Glutamic Acid(DB00142)|L-Proline(DB00172)						268	254	259					1																	220195728		2203	4300	6503	SO:0001583	missense	2058				glutamyl-tRNA aminoacylation|prolyl-tRNA aminoacylation|protein complex assembly	cytosol|soluble fraction	ATP binding|glutamate-tRNA ligase activity|proline-tRNA ligase activity|protein binding|RNA binding	g.chr1:220195728C>T	X54326	CCDS31027.1	1q41	2011-07-01			ENSG00000136628	ENSG00000136628	6.1.1.15, 6.1.1.17	"Aminoacyl tRNA synthetases / Class I", "Aminoacyl tRNA synthetases / Class II"	3418	protein-coding gene	gene with protein product	"glutamate tRNA ligase", "proline tRNA ligase"	138295		QPRS, QARS		1988429	Standard	NM_004446		Approved	EARS, PARS, GLUPRORS	uc001hly.1	P07814	OTTHUMG00000037433	ENST00000366923.3:c.1076G>A	1.37:g.220195728C>T	ENSP00000355890:p.Cys359Tyr						p.C359Y	NM_004446.2	NP_004437.2	P07814	SYEP_HUMAN		GBM - Glioblastoma multiforme(131;0.0735)	9	1345	-			359			Glutamyl-tRNA synthetase.		A0AVA9|B9EGH3|Q05BP6|Q05DF8|Q5DSM1|Q5H9S5|Q6PD57|Q86X73	Missense_Mutation	SNP	ENST00000366923.3	37	c.1076G>A	CCDS31027.1	.	.	.	.	.	.	.	.	.	.	C	28.0	4.877547	0.91664	.	.	ENSG00000136628	ENST00000366923;ENST00000536921;ENST00000435048	T	0.23348	1.91	5.88	5.88	0.94601	Glutamyl/glutaminyl-tRNA synthetase, class Ib, catalytic domain (1);	0.080669	0.85682	D	0.000000	T	0.60314	0.2259	M	0.87456	2.885	0.80722	D	1	D;D;P;D	0.89917	0.999;1.0;0.834;1.0	D;D;P;D	0.97110	0.99;0.995;0.642;1.0	T	0.64884	-0.6302	10	0.87932	D	0	-7.7173	20.2405	0.98372	0.0:1.0:0.0:0.0	.	383;359;359;359	E7EMN0;F5H7I7;Q3KQZ8;P07814	.;.;.;SYEP_HUMAN	Y	359;359;383	ENSP00000355890:C359Y	ENSP00000355890:C359Y	C	-	2	0	EPRS	218262351	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.280000	0.78610	2.797000	0.96272	0.561000	0.74099	TGC		0.378	EPRS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091133.2	NM_004446		5	219	0	0	0	1	0	5	219					T	220195728	C	T	220195728	3	4	322	1	0	0	0	0	1	0	0	0	5191	710	25	3	3558	3	EPRS	1	220195728	Missense_Mutation	SNP	C	TCGA-KK-A7AU-01A-11D-A32B-08	38170167	220195728	29054893	5	16496											
LCT	3938	broad.mit.edu	37	chr2	136570301	136570301	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgttggatctgggtcctcaGggtggctgggtagtctccat	4	13	15	9	0	3	0	1	0	2	0	5	1	4	1	2	5	0	3	2	5	1	2			TCGA-KK-A7AU-01A-11D-A32B-08	TCGA-KK-A7AU-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce4c568d-84ca-4819-a08b-7dca4ad7fc1a	f59ccc77-35be-4949-8994-517c407d30fd	g.chr2:136570301G>A	ENST00000264162.2	-	7	1943	c.1933C>T	c.(1933-1935)Ctg>Ttg	p.L645L	Y_RNA_ENST00000363794.1_RNA	NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	645	4 X approximate repeats.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	glycosylceramidase activity (GO:0017042)|lactase activity (GO:0000016)			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)	Vitamin C(DB00126)	TGGGTCCTCAGGGTGGCTGGG	0.577																																						ENST00000264162.2																			0				breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124						c.(1933-1935)Ctg>Ttg		lactase							113	98	103					2																	136570301		2203	4300	6503	SO:0001819	synonymous_variant	3938				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity	g.chr2:136570301G>A	X07994	CCDS2178.1	2q21	2014-09-17			ENSG00000115850	ENSG00000115850	3.2.1.108, 3.2.1.62		6530	protein-coding gene	gene with protein product		603202					Standard	NM_002299		Approved		uc002tuu.1	P09848	OTTHUMG00000131738	ENST00000264162.2:c.1933C>T	2.37:g.136570301G>A							p.L645L	NM_002299.2	NP_002290.2	P09848	LPH_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.169)	7	1943	-			645			4 X approximate repeats.		Q4ZG58	Silent	SNP	ENST00000264162.2	37	c.1933C>T	CCDS2178.1																																																																																				0.577	LCT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254657.1	NM_002299		5	80	0	0	0	1	0	5	80					A	136570301	G	A	136570301	2	1	322	1	0	0	0	0	0	0	0	1	8693	991	35	3		3	LCT	2	136570301	Silent	SNP	G	TCGA-KK-A7AU-01A-11D-A32B-08		136570301	106629072	6	16497											
ANKAR	150709	broad.mit.edu	37	chr2	190554683	190554683	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttaagtagtctgcttcagccTttttcaggtaagagtatcac	10	15	8	8	0	4	1	3	0	1	1	4	1	4	1	1	1	2	4	1	1	4	7			TCGA-KK-A7AU-01A-11D-A32B-08	TCGA-KK-A7AU-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce4c568d-84ca-4819-a08b-7dca4ad7fc1a	f59ccc77-35be-4949-8994-517c407d30fd	g.chr2:190554683T>C	ENST00000520309.1	+	3	1120	c.1032T>C	c.(1030-1032)ccT>ccC	p.P344P	ANKAR_ENST00000438402.2_Silent_p.P344P|ANKAR_ENST00000281412.6_Silent_p.P108P|ANKAR_ENST00000313581.4_Silent_p.P344P|ANKAR_ENST00000431575.2_Silent_p.P273P|ANKAR_ENST00000461516.1_3'UTR	NM_144708.3	NP_653309.3	Q7Z5J8	ANKAR_HUMAN	ankyrin and armadillo repeat containing	344						integral component of membrane (GO:0016021)		p.P344P(1)|p.P273P(1)|p.S346fs*59(1)|p.S275fs*59(1)		breast(3)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(16)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(2)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0256)|all cancers(119;0.0744)			TGCTTCAGCCTTTTTCAGGTA	0.289																																						ENST00000520309.1																			4	Deletion - Frameshift(2)|Substitution - coding silent(2)	p.P344P(1)|p.P273P(1)|p.S346fs*59(1)|p.S275fs*59(1)	lung(4)	breast(3)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(16)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(2)	46						c.(1030-1032)ccT>ccC		ankyrin and armadillo repeat containing							39	44	42					2																	190554683		2064	4223	6287	SO:0001819	synonymous_variant	150709					integral to membrane	binding	g.chr2:190554683T>C	AJ549812	CCDS33351.1, CCDS33351.2	2q32.2	2013-02-14			ENSG00000151687	ENSG00000151687		"Ankyrin repeat domain containing", "Armadillo repeat containing"	26350	protein-coding gene	gene with protein product		609803				15110750	Standard	NM_144708		Approved	FLJ25415	uc002uqw.2	Q7Z5J8	OTTHUMG00000154398	ENST00000520309.1:c.1032T>C	2.37:g.190554683T>C						ANKAR_ENST00000281412.6_Silent_p.P108P|ANKAR_ENST00000461516.1_3'UTR|ANKAR_ENST00000431575.2_Silent_p.P273P|ANKAR_ENST00000313581.4_Silent_p.P344P|ANKAR_ENST00000438402.2_Silent_p.P344P	p.P344P	NM_144708.3	NP_653309.3	Q7Z5J8	ANKAR_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0256)|all cancers(119;0.0744)		3	1120	+			344					Q3ZCS6|Q4G0M2|Q6ZU02	Silent	SNP	ENST00000520309.1	37	c.1032T>C	CCDS33351.2																																																																																				0.289	ANKAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335045.3	NM_144708		3	71	0	0	0	1	0	3	71					C	190554683	T	C	190554683	2	2	322	1	0	0	0	0	0	0	0	1	623	1596	56	4		4	ANKAR	2	190554683	Silent	SNP	T	TCGA-KK-A7AU-01A-11D-A32B-08	53984382	190554683	52644690	7	16498											
ILDR1	286676	broad.mit.edu	37	chr3	121724129	121724129	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tgcgctgccggtaatctaccCccagcacgggctcattctgc	6	9	10	16	3	3	0	1	0	2	0	3	0	3	0	3	2	5	4	3	2	2	3			TCGA-KK-A7AU-01A-11D-A32B-08	TCGA-KK-A7AU-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce4c568d-84ca-4819-a08b-7dca4ad7fc1a	f59ccc77-35be-4949-8994-517c407d30fd	g.chr3:121724129C>T	ENST00000344209.5	-	3	467	c.341G>A	c.(340-342)gGg>gAg	p.G114E	ILDR1_ENST00000462014.1_Missense_Mutation_p.G126E|ILDR1_ENST00000393631.1_Missense_Mutation_p.G114E|ILDR1_ENST00000460554.1_5'UTR|ILDR1_ENST00000273691.3_Missense_Mutation_p.G114E	NM_001199799.1	NP_001186728.1	Q86SU0	ILDR1_HUMAN	immunoglobulin-like domain containing receptor 1	114	Ig-like V-type.				positive regulation of peptide hormone secretion (GO:0090277)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	high-density lipoprotein particle receptor activity (GO:0070506)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25				GBM - Glioblastoma multiforme(114;0.156)		GTAATCTACCCCCAGCACGGG	0.642																																						ENST00000273691.3																			0				central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						c.(340-342)gGg>gAg		immunoglobulin-like domain containing receptor 1							39	39	39					3																	121724129		2203	4300	6503	SO:0001583	missense	286676					cytosol|integral to membrane|plasma membrane	receptor activity	g.chr3:121724129C>T	BC044240	CCDS3008.1, CCDS56270.1, CCDS56271.1	3q21.1	2013-10-11			ENSG00000145103	ENSG00000145103			28741	protein-coding gene	gene with protein product		609739	"deafness, autosomal recessive 42"	DFNB42		15641023, 21255762	Standard	NM_175924		Approved	MGC50831	uc003ees.3	Q86SU0	OTTHUMG00000159481	ENST00000344209.5:c.341G>A	3.37:g.121724129C>T	ENSP00000345667:p.Gly114Glu					ILDR1_ENST00000344209.5_Missense_Mutation_p.G114E|ILDR1_ENST00000462014.1_Missense_Mutation_p.G126E|ILDR1_ENST00000460554.1_5'UTR|ILDR1_ENST00000393631.1_Missense_Mutation_p.G114E	p.G114E	NM_175924.3	NP_787120.1	Q86SU0	ILDR1_HUMAN		GBM - Glioblastoma multiforme(114;0.156)	3	446	-			114			Ig-like V-type.		Q6ZP61|Q7Z578	Missense_Mutation	SNP	ENST00000344209.5	37	c.341G>A	CCDS56271.1	.	.	.	.	.	.	.	.	.	.	C	25.4	4.629436	0.87660	.	.	ENSG00000145103	ENST00000273691;ENST00000344209;ENST00000393631;ENST00000462014	T;T;T;T	0.54675	0.56;0.56;0.56;0.56	5.63	5.63	0.86233	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.74951	0.3784	M	0.80183	2.485	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;0.999;1.0;1.0	T	0.77501	-0.2564	10	0.87932	D	0	-37.0567	17.5361	0.87832	0.0:1.0:0.0:0.0	.	114;114;114;126	Q86SU0-5;Q86SU0;Q86SU0-2;Q86SU0-6	.;ILDR1_HUMAN;.;.	E	114;114;114;126	ENSP00000273691:G114E;ENSP00000345667:G114E;ENSP00000377251:G114E;ENSP00000419414:G126E	ENSP00000273691:G114E	G	-	2	0	ILDR1	123206819	1.000000	0.71417	1.000000	0.80357	0.712000	0.41017	7.442000	0.80503	2.802000	0.96397	0.563000	0.77884	GGG		0.642	ILDR1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000355666.1	NM_175924		3	32	0	0	0	1	0	3	32					T	121724129	C	T	121724129	3	4	322	1	0	0	0	0	1	0	0	0	7709	623	22	3	1187	3	ILDR1	3	121724129	Missense_Mutation	SNP	C	TCGA-KK-A7AU-01A-11D-A32B-08		121724129	76298301	8	16499											
LAMP3	27074	broad.mit.edu	37	chr3	182853620	182853620	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ctcacgcacttgaaggaatgCccgactgctgtctggaacat	10	9	10	12	2	2	1	1	1	1	0	2	4	2	3	1	2	3	2	1	2	3	1	rs369571047		TCGA-KK-A7AU-01A-11D-A32B-08	TCGA-KK-A7AU-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce4c568d-84ca-4819-a08b-7dca4ad7fc1a	f59ccc77-35be-4949-8994-517c407d30fd	g.chr3:182853620C>T	ENST00000265598.3	-	5	1257	c.1002G>A	c.(1000-1002)ggG>ggA	p.G334G	LAMP3_ENST00000466939.1_Silent_p.G310G	NM_014398.3	NP_055213.2	Q9UQV4	LAMP3_HUMAN	lysosomal-associated membrane protein 3	334					cell proliferation (GO:0008283)|immune system process (GO:0002376)	alveolar lamellar body membrane (GO:0097233)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(9)|ovary(2)|prostate(2)	28	all_cancers(143;9.14e-14)|Ovarian(172;0.0355)		all cancers(12;2.91e-44)|Epithelial(37;5.52e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;4.16e-21)			TGAAGGAATGCCCGACTGCTG	0.468																																						ENST00000265598.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(9)|ovary(2)|prostate(2)	28						c.(1000-1002)ggG>ggA		lysosomal-associated membrane protein 3							293	279	284					3																	182853620		2203	4300	6503	SO:0001819	synonymous_variant	27074				cell proliferation	integral to membrane|lysosomal membrane		g.chr3:182853620C>T	AB013924	CCDS3242.1	3q26.3-q27	2011-11-24			ENSG00000078081	ENSG00000078081		"CD molecules"	14582	protein-coding gene	gene with protein product		605883				9721848	Standard	NM_014398		Approved	LAMP, TSC403, DC-LAMP, DCLAMP, CD208	uc003flh.4	Q9UQV4	OTTHUMG00000158387	ENST00000265598.3:c.1002G>A	3.37:g.182853620C>T						LAMP3_ENST00000466939.1_Silent_p.G310G	p.G334G	NM_014398.3	NP_055213.2	Q9UQV4	LAMP3_HUMAN	all cancers(12;2.91e-44)|Epithelial(37;5.52e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;4.16e-21)		5	1257	-	all_cancers(143;9.14e-14)|Ovarian(172;0.0355)		334					D3DNS4|O94781|Q8NEC8	Silent	SNP	ENST00000265598.3	37	c.1002G>A	CCDS3242.1																																																																																				0.468	LAMP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350863.1			5	383	0	0	0	1	0	5	383					T	182853620	C	T	182853620	2	4	322	1	0	0	0	0	0	0	0	1	8619	726	26	3		3	LAMP3	3	182853620	Silent	SNP	C	TCGA-KK-A7AU-01A-11D-A32B-08	61129491	182853620	15168810	9	16500											
POLR2B	5431	broad.mit.edu	37	chr4	57860925	57860925	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gaaaaattccaattatgttgCggtcaacttactgccttttg	11	15	7	8	1	1	0	1	0	0	0	2	1	2	0	2	1	4	1	2	1	6	6			TCGA-KK-A7AU-01A-11D-A32B-08	TCGA-KK-A7AU-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce4c568d-84ca-4819-a08b-7dca4ad7fc1a	f59ccc77-35be-4949-8994-517c407d30fd	g.chr4:57860925C>T	ENST00000381227.1	+	6	882	c.469C>T	c.(469-471)Cgg>Tgg	p.R157W	POLR2B_ENST00000431623.2_Missense_Mutation_p.R82W|POLR2B_ENST00000441246.2_Missense_Mutation_p.R150W|POLR2B_ENST00000314595.5_Missense_Mutation_p.R157W|snoU13_ENST00000459266.1_RNA			P30876	RPB2_HUMAN	polymerase (RNA) II (DNA directed) polypeptide B, 140kDa	157					7-methylguanosine mRNA capping (GO:0006370)|DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|nucleotide-excision repair (GO:0006289)|positive regulation of viral transcription (GO:0050434)|RNA splicing (GO:0008380)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032)	DNA-directed RNA polymerase II, core complex (GO:0005665)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|ribonucleoside binding (GO:0032549)			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(10)|large_intestine(9)|lung(17)|ovary(2)|prostate(4)|skin(1)	52	Glioma(25;0.08)|all_neural(26;0.181)					AATTATGTTGCGGTCAACTTA	0.353																																						ENST00000381227.1																			0				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(10)|large_intestine(9)|lung(17)|ovary(2)|prostate(4)|skin(1)	52						c.(469-471)Cgg>Tgg		polymerase (RNA) II (DNA directed) polypeptide B, 140kDa							73	77	76					4																	57860925		2202	4300	6502	SO:0001583	missense	5431				mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|protein binding|ribonucleoside binding	g.chr4:57860925C>T		CCDS3511.1	4q12	2013-01-21	2002-08-29		ENSG00000047315	ENSG00000047315		"RNA polymerase subunits"	9188	protein-coding gene	gene with protein product		180661	"polymerase (RNA) II (DNA directed) polypeptide B (140kD)"			1518060, 8034326	Standard	NM_000938		Approved	RPB2	uc003hcl.1	P30876	OTTHUMG00000128771	ENST00000381227.1:c.469C>T	4.37:g.57860925C>T	ENSP00000370625:p.Arg157Trp					POLR2B_ENST00000314595.5_Missense_Mutation_p.R157W|POLR2B_ENST00000431623.2_Missense_Mutation_p.R82W|POLR2B_ENST00000441246.2_Missense_Mutation_p.R150W	p.R157W			P30876	RPB2_HUMAN			6	882	+	Glioma(25;0.08)|all_neural(26;0.181)		157					A8K1A8|Q8IZ61	Missense_Mutation	SNP	ENST00000381227.1	37	c.469C>T	CCDS3511.1	.	.	.	.	.	.	.	.	.	.	C	33	5.287374	0.95517	.	.	ENSG00000047315	ENST00000381227;ENST00000431623;ENST00000441246;ENST00000314595	T;T;T;T	0.66815	-0.23;-0.23;-0.23;-0.23	5.77	5.77	0.91146	RNA polymerase, beta subunit, protrusion (1);	0.000000	0.85682	D	0.000000	D	0.87791	0.6266	H	0.94183	3.505	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.90374	0.4383	10	0.87932	D	0	.	19.9884	0.97356	0.0:1.0:0.0:0.0	.	82;157	C9J4M6;P30876	.;RPB2_HUMAN	W	157;82;150;157	ENSP00000370625:R157W;ENSP00000391096:R82W;ENSP00000391452:R150W;ENSP00000312735:R157W	ENSP00000312735:R157W	R	+	1	2	POLR2B	57555682	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.727000	0.84838	2.736000	0.93811	0.557000	0.71058	CGG		0.353	POLR2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250692.1	NM_000938		50	47	0	0	0	1	0	50	47					T	57860925	C	T	57860925	3	4	322	1	0	0	0	0	1	0	0	0	12215	759	27	1	487	1	POLR2B	4	57860925	Missense_Mutation	SNP	C	TCGA-KK-A7AU-01A-11D-A32B-08		57860925	133293351	10	16501											
FAT4	79633	broad.mit.edu	37	chr4	126372407	126372407	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctaaacatctacagtgtgcaGatcagtgaaggggtcccaat	13	9	10	9	0	2	2	1	1	1	1	3	2	3	2	1	2	3	1	1	2	5	2	rs371194603		TCGA-KK-A7AU-01A-11D-A32B-08	TCGA-KK-A7AU-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce4c568d-84ca-4819-a08b-7dca4ad7fc1a	f59ccc77-35be-4949-8994-517c407d30fd	g.chr4:126372407G>C	ENST00000394329.3	+	9	10249	c.10236G>C	c.(10234-10236)caG>caC	p.Q3412H	FAT4_ENST00000335110.5_Missense_Mutation_p.Q1710H	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	3412	Cadherin 33. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						ACAGTGTGCAGATCAGTGAAG	0.463																																						ENST00000394329.3																			0				NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						c.(10234-10236)caG>caC		FAT atypical cadherin 4		G	HIS/GLN	1,4405	2.1+/-5.4	0,1,2202	166	160	162		10236	3.3	1	4		162	0,8600		0,0,4300	no	missense	FAT4	NM_024582.4	24	0,1,6502	CC,CG,GG		0.0,0.0227,0.0077	probably-damaging	3412/4982	126372407	1,13005	2203	4300	6503	SO:0001583	missense	79633				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:126372407G>C	AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"Cadherins / Cadherin-related"	23109	protein-coding gene	gene with protein product	"cadherin-related family member 11"	612411	"FAT tumor suppressor homolog 4 (Drosophila)"			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.10236G>C	4.37:g.126372407G>C	ENSP00000377862:p.Gln3412His					FAT4_ENST00000335110.5_Missense_Mutation_p.Q1710H	p.Q3412H	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN			9	10249	+			3412			Cadherin 33.		A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Missense_Mutation	SNP	ENST00000394329.3	37	c.10236G>C	CCDS3732.3	.	.	.	.	.	.	.	.	.	.	G	11.82	1.752441	0.31046	2.27E-4	0.0	ENSG00000196159	ENST00000394329;ENST00000335110	T;T	0.01767	4.65;4.65	5.14	3.27	0.37495	Cadherin (3);Cadherin-like (1);	0.000000	0.32819	U	0.005604	T	0.03959	0.0111	L	0.28192	0.835	0.44789	D	0.997796	P;D;D	0.71674	0.828;0.998;0.998	P;D;D	0.83275	0.576;0.996;0.994	T	0.57057	-0.7876	10	0.46703	T	0.11	.	7.2205	0.25983	0.203:0.1332:0.6638:0.0	.	1710;3412;3412	Q6V0I7-2;Q6V0I7;Q6V0I7-3	.;FAT4_HUMAN;.	H	3412;1710	ENSP00000377862:Q3412H;ENSP00000335169:Q1710H	ENSP00000335169:Q1710H	Q	+	3	2	FAT4	126591857	1.000000	0.71417	1.000000	0.80357	0.882000	0.50991	1.305000	0.33493	1.138000	0.42230	0.561000	0.74099	CAG		0.463	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582		83	90	0	0	0	1	0	83	90					C	126372407	G	C	126372407	3	2	322	1	0	0	0	0	1	0	0	0	5692	933	33	5	10270	5	FAT4	4	126372407	Missense_Mutation	SNP	G	TCGA-KK-A7AU-01A-11D-A32B-08	68511482	126372407	64781869	11	16502											
RNASEN	29102	broad.mit.edu	37	chr5	31437400	31437400	+	Frame_Shift_Del	DEL	T	T	-																															attccaaccgttcattgtggTtaatcctacaataggaatta																										TCGA-KK-A7AU-01A-11D-A32B-08	TCGA-KK-A7AU-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce4c568d-84ca-4819-a08b-7dca4ad7fc1a	f59ccc77-35be-4949-8994-517c407d30fd	g.chr5:31437400delT	ENST00000511367.2	-	23	3132	c.2888delA	c.(2887-2889)aacfs	p.N963fs	DROSHA_ENST00000442743.1_Frame_Shift_Del_p.N926fs|DROSHA_ENST00000344624.3_Frame_Shift_Del_p.N963fs|DROSHA_ENST00000513349.1_Frame_Shift_Del_p.N926fs	NM_013235.4	NP_037367.3	Q9NRR4	RNC_HUMAN	drosha, ribonuclease type III	963	Necessary for interaction with DGCR8 and pri-miRNA processing activity.|RNase III 1.				defense response to Gram-negative bacterium (GO:0050829)|defense response to Gram-positive bacterium (GO:0050830)|gene expression (GO:0010467)|miRNA metabolic process (GO:0010586)|pre-miRNA processing (GO:0031054)|primary miRNA processing (GO:0031053)|ribosome biogenesis (GO:0042254)|RNA phosphodiester bond hydrolysis (GO:0090501)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|rRNA catabolic process (GO:0016075)	nucleoplasm (GO:0005654)	lipopolysaccharide binding (GO:0001530)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|ribonuclease III activity (GO:0004525)	p.N963S(1)		breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(19)|lung(33)|ovary(2)|skin(1)	66						TTCATTGTGGTTAATCCTACA	0.388																																						ENST00000511367.2																			1	Substitution - Missense(1)	p.N963S(1)	large_intestine(1)	breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(19)|lung(33)|ovary(2)|skin(1)	66						c.(2887-2889)acfs		drosha, ribonuclease type III							48	45	46					5																	31437400		1829	4075	5904	SO:0001589	frameshift_variant	29102				gene silencing by RNA|ribosome biogenesis|RNA processing	nucleolus|nucleoplasm	double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity	g.chr5:31437400delT	AF116910	CCDS47194.1, CCDS47195.1	5q11.2	2010-11-17	2010-10-28	2010-10-28	ENSG00000113360	ENSG00000113360	3.1.26.3		17904	protein-coding gene	gene with protein product	"drosha, ribonuclease type III", "drosha, double-stranded RNA-specific endoribonuclease"	608828	"ribonuclease type III, nuclear"	RNASEN		10713462, 10948199	Standard	NM_013235		Approved	RNASE3L, Etohi2, HSA242976, RN3	uc003jhg.2	Q9NRR4	OTTHUMG00000161976	ENST00000511367.2:c.2888delA	5.37:g.31437400delT	ENSP00000425979:p.Asn963fs					DROSHA_ENST00000513349.1_Frame_Shift_Del_p.N926fs|DROSHA_ENST00000344624.3_Frame_Shift_Del_p.N963fs|DROSHA_ENST00000442743.1_Frame_Shift_Del_p.N926fs	p.N963fs	NM_013235.4	NP_037367.3	Q9NRR4	RNC_HUMAN			23	3132	-			963			Necessary for interaction with DGCR8 and pri-miRNA processing activity.|RNase III 1.		E7EMP9|Q7Z5V2|Q86YH0|Q9NW73|Q9Y2V9|Q9Y4Y0	Frame_Shift_Del	DEL	ENST00000511367.2	37	c.2888delA	CCDS47195.1																																																																																				0.388	DROSHA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366561.3	NM_013235		2	4						2	4	---	---	---	---	-	31437400	T	-	31437400	7	5	322	1	0	1	0	1	0	0	0	0	13417	1725	60	0	1288	0	RNASEN	5	31437400	Frame_Shift_Del	DEL	T	TCGA-KK-A7AU-01A-11D-A32B-08		31437400	149477860	12	16503											
GPR98	84059	broad.mit.edu	37	chr5	89992872	89992872	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agtagaattttgccaagctcCgacactgttagagtgaacat	13	11	9	8	1	0	3	0	1	0	2	1	4	1	3	2	0	3	3	2	0	5	4	rs75195840		TCGA-KK-A7AU-01A-11D-A32B-08	TCGA-KK-A7AU-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce4c568d-84ca-4819-a08b-7dca4ad7fc1a	f59ccc77-35be-4949-8994-517c407d30fd	g.chr5:89992872C>T	ENST00000405460.2	+	34	8160	c.8064C>T	c.(8062-8064)tcC>tcT	p.S2688S		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	2688					detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TGCCAAGCTCCGACACTGTTA	0.428																																						ENST00000405460.2																			0				NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269						c.(8062-8064)tcC>tcT		G protein-coupled receptor 98		C		1,3797		0,1,1898	171	160	163		8064	-7.7	0.7	5	dbSNP_133	163	0,8232		0,0,4116	no	coding-synonymous	GPR98	NM_032119.3		0,1,6014	TT,TC,CC		0.0,0.0263,0.0083		2688/6307	89992872	1,12029	1899	4116	6015	SO:0001819	synonymous_variant	84059				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr5:89992872C>T	AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"-", "GPCR / Class B : Orphans"	17416	protein-coding gene	gene with protein product		602851	"monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.8064C>T	5.37:g.89992872C>T							p.S2688S	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)	34	8160	+		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)	2688					O75171|Q8TF58|Q9H0X5|Q9UL61	Silent	SNP	ENST00000405460.2	37	c.8064C>T	CCDS47246.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	0.552	-0.849077	0.02651	2.63E-4	0.0	ENSG00000164199	ENST00000509621	.	.	.	6.06	-7.66	0.01277	.	.	.	.	.	T	0.38241	0.1033	.	.	.	0.53005	D	0.99996	.	.	.	.	.	.	T	0.43065	-0.9414	4	.	.	.	.	4.3153	0.10990	0.2183:0.1598:0.0737:0.5482	.	.	.	.	L	254	.	.	P	+	2	0	GPR98	90028628	0.000000	0.05858	0.714000	0.30535	0.043000	0.13939	-2.732000	0.00804	-1.369000	0.02147	-0.345000	0.07892	CCG		0.428	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2	NM_032119		27	58	0	0	0	1	0	27	58					T	89992872	C	T	89992872	2	4	322	1	0	0	0	0	0	0	0	1	6721	639	23	2		2	GPR98	5	89992872	Silent	SNP	C	TCGA-KK-A7AU-01A-11D-A32B-08	58555472	89992872	90922388	13	16504											
PCDHGB1	56104	broad.mit.edu	37	chr5	140731932	140731932	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcagtgctctttctcctcgCggtgattctagcgatcgccc	4	13	9	15	4	4	1	1	1	3	0	7	2	4	1	2	1	2	1	2	1	1	3			TCGA-KK-A7AU-01A-11D-A32B-08	TCGA-KK-A7AU-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce4c568d-84ca-4819-a08b-7dca4ad7fc1a	f59ccc77-35be-4949-8994-517c407d30fd	g.chr5:140731932C>T	ENST00000523390.1	+	1	2105	c.2105C>T	c.(2104-2106)gCg>gTg	p.A702V	PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_5'Flank|PCDHGA1_ENST00000517417.1_Intron	NM_018922.2|NM_032095.1	NP_061745.1|NP_115266.1	Q9Y5G3	PCDGD_HUMAN	protocadherin gamma subfamily B, 1	702					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)	16			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTTCTCCTCGCGGTGATTCTA	0.617																																						ENST00000523390.1																			0				central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)	16						c.(2104-2106)gCg>gTg									125	136	132					5																	140731932		2078	4197	6275	SO:0001583	missense	0							g.chr5:140731932C>T	AF152517	CCDS54923.1, CCDS75330.1	5q31	2010-01-26				ENSG00000254221		"Cadherins / Protocadherins : Clustered"	8708	other	protocadherin	"protocadherin gamma subfamily B, 1, isoform 2"	606299				10380929	Standard	NM_018922		Approved	PCDH-GAMMA-B1		Q9Y5G3		ENST00000523390.1:c.2105C>T	5.37:g.140731932C>T	ENSP00000429273:p.Ala702Val					PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron	p.A702V	NM_018922.2|NM_032095.1	NP_061745.1|NP_115266.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2105	+								Q3SY75|Q9Y5C8	Missense_Mutation	SNP	ENST00000523390.1	37	c.2105C>T	CCDS54923.1	.	.	.	.	.	.	.	.	.	.	.	9.121	1.008912	0.19199	.	.	ENSG00000254221	ENST00000523390	T	0.16457	2.34	5.68	3.87	0.44632	.	.	.	.	.	T	0.15825	0.0381	M	0.62723	1.935	0.09310	N	1	B;P	0.35908	0.126;0.527	B;B	0.26517	0.065;0.07	T	0.13656	-1.0501	9	0.45353	T	0.12	.	8.4801	0.33038	0.0:0.7259:0.1296:0.1445	.	702;702	Q9Y5G3-2;Q9Y5G3	.;PCDGD_HUMAN	V	702	ENSP00000429273:A702V	ENSP00000429273:A702V	A	+	2	0	PCDHGB1	140712116	0.502000	0.26107	0.126000	0.21872	0.028000	0.11728	-0.229000	0.09098	1.532000	0.49169	0.655000	0.94253	GCG		0.617	PCDHGB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374740.1	NM_018922		8	184	0	0	0	1	0	8	184					T	140731932	C	T	140731932	3	4	322	1	0	0	0	0	1	0	0	0	11562	768	27	1	2107	1	PCDHGB1	5	140731932	Missense_Mutation	SNP	C	TCGA-KK-A7AU-01A-11D-A32B-08	50739060	140731932	40183328	14	16505											
HLA-DQA2	3118	broad.mit.edu	37	chr6	32712958	32712958	+	Frame_Shift_Del	DEL	T	T	-																															gaccatgttgcctcctatggTgtgaacttctaccagtctca																										TCGA-KK-A7AU-01A-11D-A32B-08	TCGA-KK-A7AU-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce4c568d-84ca-4819-a08b-7dca4ad7fc1a	f59ccc77-35be-4949-8994-517c407d30fd	g.chr6:32712958delT	ENST00000374940.3	+	2	207	c.105delT	c.(103-105)ggtfs	p.G35fs		NM_020056.4	NP_064440.1	P01906	DQA2_HUMAN	major histocompatibility complex, class II, DQ alpha 2	35	Alpha-1.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)|interferon-gamma-mediated signaling pathway (GO:0060333)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)	clathrin-coated endocytic vesicle membrane (GO:0030669)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|MHC class II protein complex (GO:0042613)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)|transport vesicle membrane (GO:0030658)	MHC class II receptor activity (GO:0032395)			endometrium(2)|large_intestine(3)|lung(7)|skin(1)	13					"""Insulin(DB00071)"	CCTCCTATGGTGTGAACTTCT	0.488																																						ENST00000374940.3																			0				endometrium(2)|large_intestine(3)|lung(7)|skin(1)	13						c.(103-105)ggfs		major histocompatibility complex, class II, DQ alpha 2	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)						207	204	205					6																	32712958		1511	2709	4220	SO:0001589	frameshift_variant	3118				antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway	endoplasmic reticulum membrane|endosome membrane|Golgi apparatus|integral to plasma membrane|lysosomal membrane|MHC class II protein complex	MHC class II receptor activity	g.chr6:32712958delT		CCDS4753.1	6p21.3	2013-01-11			ENSG00000237541	ENSG00000237541		"Histocompatibility complex", "Immunoglobulin superfamily / C1-set domain containing"	4943	protein-coding gene	gene with protein product		613503		HLA-DXA			Standard	NM_020056		Approved		uc003obx.3	P01906	OTTHUMG00000031108	ENST00000374940.3:c.105delT	6.37:g.32712958delT	ENSP00000364076:p.Gly35fs						p.G35fs	NM_020056.4	NP_064440.1	P01906	DQA2_HUMAN			2	207	+			35			Alpha-1.		A2BF37|B0V0E7|O19789|Q5SQ94|Q5SR04	Frame_Shift_Del	DEL	ENST00000374940.3	37	c.105delT	CCDS4753.1																																																																																				0.488	HLA-DQA2-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076179.2	NM_020056		7	210						7	210	---	---	---	---	-	32712958	T	-	32712958	7	5	322	1	0	1	0	1	0	0	0	0	7205	1683	59	0	111	0	HLA-DQA2	6	32712958	Frame_Shift_Del	DEL	T	TCGA-KK-A7AU-01A-11D-A32B-08		32712958	138402109	15	16506											
MUC17	140453	broad.mit.edu	37	chr7	100683689	100683689	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gtatgtctgtcagcaccatgCcggtggccagttctgaggct	6	11	13	11	1	3	1	1	1	2	0	3	1	3	1	3	3	2	4	3	3	1	2	rs540856466	byFrequency	TCGA-KK-A7AU-01A-11D-A32B-08	TCGA-KK-A7AU-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce4c568d-84ca-4819-a08b-7dca4ad7fc1a	f59ccc77-35be-4949-8994-517c407d30fd	g.chr7:100683689C>T	ENST00000306151.4	+	3	9056	c.8992C>T	c.(8992-8994)Ccg>Tcg	p.P2998S		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	2998	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CAGCACCATGCCGGTGGCCAG	0.507													C|||	2	0.000399361	0	0.0029	5008	,	,		25028	0		0	False		,,,				2504	0					ENST00000306151.4																			0				NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343						c.(8992-8994)Ccg>Tcg		mucin 17, cell surface associated							250	262	258					7																	100683689		2203	4300	6503	SO:0001583	missense	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100683689C>T	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"Mucins"	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.8992C>T	7.37:g.100683689C>T	ENSP00000302716:p.Pro2998Ser						p.P2998S	NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN			3	9056	+	Lung NSC(181;0.136)|all_lung(186;0.182)		2998			59 X approximate tandem repeats.|Ser-rich.		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	c.8992C>T	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	C	0.230	-1.021399	0.02061	.	.	ENSG00000169876	ENST00000306151	T	0.06608	3.28	.	.	.	.	.	.	.	.	T	0.05686	0.0149	N	0.17082	0.46	0.09310	N	1	D	0.57571	0.98	P	0.59424	0.857	T	0.06935	-1.0799	7	0.09084	T	0.74	.	.	.	.	.	2998	Q685J3	MUC17_HUMAN	S	2998	ENSP00000302716:P2998S	ENSP00000302716:P2998S	P	+	1	0	MUC17	100470409	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	-4.091000	0.00297	-1.495000	0.01831	-1.492000	0.00969	CCG		0.507	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		5	572	0	0	0	1	0	5	572					T	100683689	C	T	100683689	3	4	322	1	0	0	0	0	1	0	0	0	9974	739	26	3	9002	3	MUC17	7	100683689	Missense_Mutation	SNP	C	TCGA-KK-A7AU-01A-11D-A32B-08		100683689	58454974	16	16507											
LAMB1	3912	broad.mit.edu	37	chr7	107600202	107600202	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttgcaggttcttccaaccaCgttgggccggcactggcact	6	10	12	13	2	1	0	0	0	1	0	2	0	2	0	3	4	2	6	3	4	1	4	rs376461562		TCGA-KK-A7AU-01A-11D-A32B-08	TCGA-KK-A7AU-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce4c568d-84ca-4819-a08b-7dca4ad7fc1a	f59ccc77-35be-4949-8994-517c407d30fd	g.chr7:107600202C>T	ENST00000222399.6	-	19	2622	c.2392G>A	c.(2392-2394)Gtg>Atg	p.V798M	LAMB1_ENST00000393560.1_Missense_Mutation_p.V798M|LAMB1_ENST00000393561.1_Missense_Mutation_p.V822M	NM_002291.2	NP_002282.2	P07942	LAMB1_HUMAN	laminin, beta 1	798	Laminin EGF-like 6. {ECO:0000255|PROSITE- ProRule:PRU00460}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|embryo implantation (GO:0007566)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of cell adhesion (GO:0007162)|neuron projection development (GO:0031175)|neuronal-glial interaction involved in cerebral cortex radial glia guided migration (GO:0021812)|odontogenesis (GO:0042476)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell proliferation (GO:0050679)|substrate adhesion-dependent cell spreading (GO:0034446)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-2 complex (GO:0005607)|laminin-8 complex (GO:0043257)|perinuclear region of cytoplasm (GO:0048471)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)|structural molecule activity (GO:0005198)			NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)	82						CTTCCAACCACGTTGGGCCGG	0.522																																						ENST00000393561.1																			0				NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)	82						c.(2464-2466)Gtg>Atg		laminin, beta 1	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	C	MET/VAL	0,4406		0,0,2203	58	55	56		2392	5.3	1	7		56	1,8599	1.2+/-3.3	0,1,4299	no	missense	LAMB1	NM_002291.2	21	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	798/1787	107600202	1,13005	2203	4300	6503	SO:0001583	missense	3912				axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm	extracellular matrix structural constituent	g.chr7:107600202C>T	M61916	CCDS5750.1	7q22	2013-03-01			ENSG00000091136	ENSG00000091136		"Laminins"	6486	protein-coding gene	gene with protein product		150240	"cutis laxa with marfanoid phenotype"	CLM		2563160, 2704655, 1864606	Standard	NM_002291		Approved		uc003vew.2	P07942	OTTHUMG00000149966	ENST00000222399.6:c.2392G>A	7.37:g.107600202C>T	ENSP00000222399:p.Val798Met					LAMB1_ENST00000222399.6_Missense_Mutation_p.V798M|LAMB1_ENST00000393560.1_Missense_Mutation_p.V798M	p.V822M			P07942	LAMB1_HUMAN			17	2648	-			798			Laminin EGF-like 7.		Q14D91	Missense_Mutation	SNP	ENST00000222399.6	37	c.2464G>A	CCDS5750.1	.	.	.	.	.	.	.	.	.	.	C	25.4	4.638775	0.87760	0.0	1.16E-4	ENSG00000091136	ENST00000393561;ENST00000222399;ENST00000393560	T;T;T	0.66280	-0.2;-0.2;-0.2	5.31	5.31	0.75309	EGF-like, laminin (4);	.	.	.	.	D	0.88299	0.6399	H	0.98936	4.375	0.58432	D	0.999999	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.77004	0.969;0.976;0.989	D	0.92727	0.6196	9	0.87932	D	0	.	19.1741	0.93597	0.0:1.0:0.0:0.0	.	798;798;822	E7EPA6;P07942;G3XAI2	.;LAMB1_HUMAN;.	M	822;798;798	ENSP00000377191:V822M;ENSP00000222399:V798M;ENSP00000377190:V798M	ENSP00000222399:V798M	V	-	1	0	LAMB1	107387438	1.000000	0.71417	0.967000	0.41034	0.968000	0.65278	4.512000	0.60469	2.759000	0.94783	0.563000	0.77884	GTG		0.522	LAMB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314584.1	NM_002291		3	27	0	0	0	1	0	3	27					T	107600202	C	T	107600202	3	4	322	1	0	0	0	0	1	0	0	0	8610	536	19	1	3032	1	LAMB1	7	107600202	Missense_Mutation	SNP	C	TCGA-KK-A7AU-01A-11D-A32B-08	6916513	107600202	51538461	17	16508											
GPR124	25960	broad.mit.edu	37	chr8	37693177	37693177	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actgcaccctgcaactgctcGtcttccgaaatggccgcctc	7	9	8	17	3	1	0	0	0	1	0	4	1	2	0	4	1	4	3	4	1	2	1	rs151148392	byFrequency	TCGA-KK-A7AU-01A-11D-A32B-08	TCGA-KK-A7AU-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce4c568d-84ca-4819-a08b-7dca4ad7fc1a	f59ccc77-35be-4949-8994-517c407d30fd	g.chr8:37693177G>A	ENST00000412232.2	+	13	1952	c.1939G>A	c.(1939-1941)Gtc>Atc	p.V647I	GPR124_ENST00000315215.7_Intron	NM_032777.9	NP_116166.9	Q96PE1	GP124_HUMAN	G protein-coupled receptor 124	647					central nervous system development (GO:0007417)|endothelial cell migration (GO:0043542)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of vascular endothelial growth factor signaling pathway (GO:1900747)|neuropeptide signaling pathway (GO:0007218)|positive regulation of endothelial cell migration (GO:0010595)|regulation of angiogenesis (GO:0045765)|regulation of chemotaxis (GO:0050920)|regulation of establishment of blood-brain barrier (GO:0090210)|sprouting angiogenesis (GO:0002040)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(16)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	37			BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)			GCAACTGCTCGTCTTCCGAAA	0.677													G|||	2	0.000399361	0	0.0014	5008	,	,		11791	0		0.001	False		,,,				2504	0					ENST00000412232.2																			0				central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(16)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	37						c.(1939-1941)Gtc>Atc		G protein-coupled receptor 124		G	ILE/VAL	2,4404	4.2+/-10.8	0,2,2201	74	81	79		1939	2.5	1	8	dbSNP_134	79	12,8588	9.1+/-34.3	0,12,4288	yes	missense	GPR124	NM_032777.9	29	0,14,6489	AA,AG,GG		0.1395,0.0454,0.1076	benign	647/1339	37693177	14,12992	2203	4300	6503	SO:0001583	missense	25960				central nervous system development|endothelial cell migration|neuropeptide signaling pathway|regulation of angiogenesis|regulation of chemotaxis|sprouting angiogenesis	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr8:37693177G>A	AB040964	CCDS6097.2	8p11.22	2014-08-08			ENSG00000020181	ENSG00000020181		"-", "GPCR / Class B : Orphans", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	17849	protein-coding gene	gene with protein product	"tumor endothelial marker 5"	606823				11559528, 12565841	Standard	NM_032777		Approved	TEM5, DKFZp434C211, DKFZp434J0911, KIAA1531, FLJ14390	uc003xkj.3	Q96PE1	OTTHUMG00000156182	ENST00000412232.2:c.1939G>A	8.37:g.37693177G>A	ENSP00000406367:p.Val647Ile					GPR124_ENST00000315215.7_Intron	p.V647I	NM_032777.9	NP_116166.9	Q96PE1	GP124_HUMAN	BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)		13	1952	+			647					A6H8W3|D3DSW4|Q8N3R1|Q8TEM3|Q96KB2|Q9P1Z7|Q9UFY4	Missense_Mutation	SNP	ENST00000412232.2	37	c.1939G>A	CCDS6097.2	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	16.41	3.114314	0.56505	4.54E-4	0.001395	ENSG00000020181	ENST00000416514;ENST00000412232	T	0.58358	0.34	5.29	2.53	0.30540	.	0.488989	0.21014	N	0.081629	T	0.40815	0.1132	L	0.46157	1.445	0.35319	D	0.78459	B	0.13594	0.008	B	0.06405	0.002	T	0.39354	-0.9618	10	0.13108	T	0.6	-24.6791	10.4567	0.44555	0.2129:0.0:0.7871:0.0	.	647	Q96PE1	GP124_HUMAN	I	640;647	ENSP00000406367:V647I	ENSP00000406367:V647I	V	+	1	0	GPR124	37812335	1.000000	0.71417	0.979000	0.43373	0.958000	0.62258	3.106000	0.50322	0.246000	0.21394	-0.140000	0.14226	GTC		0.677	GPR124-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343331.2			77	24	0	0	0	1	0	77	24					A	37693177	G	A	37693177	3	1	322	1	0	0	0	0	1	0	0	0	6638	1145	40	1	1968	1	GPR124	8	37693177	Missense_Mutation	SNP	G	TCGA-KK-A7AU-01A-11D-A32B-08		37693177	108670845	18	16509											
PDP1	54704	broad.mit.edu	37	chr8	94934399	94934399	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atctctgttgttcctcatcgTacattcctcagagtcgactg	7	15	7	12	2	3	1	2	0	1	1	8	2	5	1	2	0	1	3	2	0	1	4			TCGA-KK-A7AU-01A-11D-A32B-08	TCGA-KK-A7AU-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce4c568d-84ca-4819-a08b-7dca4ad7fc1a	f59ccc77-35be-4949-8994-517c407d30fd	g.chr8:94934399T>C	ENST00000297598.4	+	2	381	c.112T>C	c.(112-114)Tac>Cac	p.Y38H	PDP1_ENST00000396200.3_Missense_Mutation_p.Y63H|PDP1_ENST00000520728.1_Missense_Mutation_p.Y38H|PDP1_ENST00000517764.1_Missense_Mutation_p.Y38H	NM_001161781.1|NM_018444.3	NP_001155253.1|NP_060914.2	Q9P0J1	PDP1_HUMAN	pyruvate dehyrogenase phosphatase catalytic subunit 1	38					cellular metabolic process (GO:0044237)|peptidyl-threonine dephosphorylation (GO:0035970)|pyruvate metabolic process (GO:0006090)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)	[pyruvate dehydrogenase (lipoamide)] phosphatase activity (GO:0004741)|metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|liver(1)|lung(5)|ovary(1)|pancreas(1)|skin(2)	18						TTCCTCATCGTACATTCCTCA	0.468																																						ENST00000396200.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|liver(1)|lung(5)|ovary(1)|pancreas(1)|skin(2)	18						c.(187-189)Tac>Cac		pyruvate dehyrogenase phosphatase catalytic subunit 1							175	152	160					8																	94934399		2203	4300	6503	SO:0001583	missense	54704				pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix|protein serine/threonine phosphatase complex	[pyruvate dehydrogenase (lipoamide)] phosphatase activity	g.chr8:94934399T>C	AF155661	CCDS6259.1, CCDS55262.1	8q22.1	2012-04-17	2009-06-12	2009-06-12	ENSG00000164951	ENSG00000164951	3.1.3.43	"Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"	9279	protein-coding gene	gene with protein product		605993	"protein phosphatase 2C, magnesium-dependent, catalytic subunit"	PPM2C		8396421	Standard	NM_001161779		Approved	PDP, PDH	uc003ygf.3	Q9P0J1		ENST00000297598.4:c.112T>C	8.37:g.94934399T>C	ENSP00000297598:p.Tyr38His					PDP1_ENST00000517764.1_Missense_Mutation_p.Y38H|PDP1_ENST00000520728.1_Missense_Mutation_p.Y38H|PDP1_ENST00000297598.4_Missense_Mutation_p.Y38H	p.Y63H	NM_001161779.1	NP_001155251.1	Q9P0J1	PDP1_HUMAN			3	463	+			38					B3KX71|J3KPU0|Q5U5K1	Missense_Mutation	SNP	ENST00000297598.4	37	c.187T>C	CCDS6259.1	.	.	.	.	.	.	.	.	.	.	T	0.010	-1.794165	0.00617	.	.	ENSG00000164951	ENST00000297598;ENST00000520614;ENST00000520728;ENST00000518107;ENST00000396200;ENST00000518573;ENST00000517764;ENST00000518827;ENST00000521144	T;T;T;T	0.41400	1.0;1.0;1.0;1.0	6.16	5.13	0.70059	.	0.319061	0.28618	N	0.014706	T	0.10594	0.0259	N	0.00538	-1.39	0.19300	N	0.999979	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.23332	-1.0191	10	0.11485	T	0.65	-4.5192	3.3949	0.07302	0.0:0.5298:0.0:0.4702	.	89;38	B4DYX8;Q9P0J1	.;PDP1_HUMAN	H	38;38;38;38;63;38;38;38;38	ENSP00000297598:Y38H;ENSP00000428317:Y38H;ENSP00000379503:Y63H;ENSP00000430380:Y38H	ENSP00000297598:Y38H	Y	+	1	0	PDP1	95003575	0.284000	0.24287	0.016000	0.15963	0.047000	0.14425	2.308000	0.43690	1.205000	0.43262	0.528000	0.53228	TAC		0.468	PDP1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000378415.2	NM_018444		32	85	0	0	0	1	0	32	85					C	94934399	T	C	94934399	3	2	322	1	0	0	0	0	1	0	0	0	11685	1638	57	4	295	4	PDP1	8	94934399	Missense_Mutation	SNP	T	TCGA-KK-A7AU-01A-11D-A32B-08	57241222	94934399	51429623	19	16510											
KIAA1429	25962	broad.mit.edu	37	chr8	95538772	95538772	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctaaatggtcaccaagtcttTtaatctctgacaagacttca	13	13	5	10	0	4	2	2	1	2	1	5	2	4	2	1	1	0	0	1	1	5	4			TCGA-KK-A7AU-01A-11D-A32B-08	TCGA-KK-A7AU-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce4c568d-84ca-4819-a08b-7dca4ad7fc1a	f59ccc77-35be-4949-8994-517c407d30fd	g.chr8:95538772T>G	ENST00000297591.5	-	8	1775	c.1700A>C	c.(1699-1701)aAa>aCa	p.K567T	KIAA1429_ENST00000421249.2_Missense_Mutation_p.K567T|KIAA1429_ENST00000437199.1_Missense_Mutation_p.K567T	NM_015496.4	NP_056311.2	Q69YN4	VIR_HUMAN	KIAA1429	567					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(16)|lung(28)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	66	Breast(36;3.29e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00185)			ACCAAGTCTTTTAATCTCTGA	0.418																																						ENST00000297591.5																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(16)|lung(28)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	66						c.(1699-1701)aAa>aCa		KIAA1429							124	123	123					8																	95538772		2203	4300	6503	SO:0001583	missense	25962				mRNA processing|RNA splicing	nucleus		g.chr8:95538772T>G	AB037850	CCDS34923.1, CCDS47894.1	8q22.1	2008-11-25			ENSG00000164944	ENSG00000164944			24500	protein-coding gene	gene with protein product	"functional spliceosome-associated protein 121"					10718198	Standard	NM_015496		Approved	DKFZP434I116, fSAP121	uc003ygo.2	Q69YN4	OTTHUMG00000164426	ENST00000297591.5:c.1700A>C	8.37:g.95538772T>G	ENSP00000297591:p.Lys567Thr					KIAA1429_ENST00000421249.2_Missense_Mutation_p.K567T|KIAA1429_ENST00000437199.1_Missense_Mutation_p.K567T	p.K567T	NM_015496.4	NP_056311.2	Q69YN4	VIR_HUMAN	BRCA - Breast invasive adenocarcinoma(8;0.00185)		8	1775	-	Breast(36;3.29e-05)		567					Q2M1N0|Q6AHX9|Q6NT78|Q7Z6C7|Q8IXH4|Q9BTH4|Q9H9C9|Q9NWR3|Q9P2B8|Q9UFW1	Missense_Mutation	SNP	ENST00000297591.5	37	c.1700A>C	CCDS34923.1	.	.	.	.	.	.	.	.	.	.	T	16.07	3.019584	0.54576	.	.	ENSG00000164944	ENST00000297591;ENST00000437199;ENST00000421249	T;T;T	0.54279	0.59;0.6;0.58	5.95	5.95	0.96441	.	0.051192	0.85682	D	0.000000	T	0.52306	0.1726	L	0.27053	0.805	0.52501	D	0.999955	P;P	0.50528	0.936;0.936	P;P	0.50934	0.654;0.654	T	0.55617	-0.8113	10	0.59425	D	0.04	-24.2699	16.4069	0.83677	0.0:0.0:0.0:1.0	.	567;567	Q69YN4-4;Q69YN4	.;VIR_HUMAN	T	567	ENSP00000297591:K567T;ENSP00000395600:K567T;ENSP00000398390:K567T	ENSP00000297591:K567T	K	-	2	0	KIAA1429	95607948	1.000000	0.71417	1.000000	0.80357	0.493000	0.33554	4.141000	0.58038	2.272000	0.75746	0.460000	0.39030	AAA		0.418	KIAA1429-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378720.2	NM_015496		202	123	0	0	0	1	0	202	123					G	95538772	T	G	95538772	3	3	322	1	0	0	0	0	1	0	0	0	8231	1841	64	5	3860	5	KIAA1429	8	95538772	Missense_Mutation	SNP	T	TCGA-KK-A7AU-01A-11D-A32B-08	604373	95538772	50825250	20	16511											
EPPK1	83481	broad.mit.edu	37	chr8	144940744	144940744	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcgggcaccaggacgcccgcGatgcagctggtgccctccag	6	4	15	16	4	0	0	0	0	0	0	1	2	1	1	4	3	3	3	4	3	0	0			TCGA-KK-A7AU-01A-11D-A32B-08	TCGA-KK-A7AU-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce4c568d-84ca-4819-a08b-7dca4ad7fc1a	f59ccc77-35be-4949-8994-517c407d30fd	g.chr8:144940744G>A	ENST00000525985.1	-	2	6749	c.6678C>T	c.(6676-6678)atC>atT	p.I2226I				P58107	EPIPL_HUMAN	epiplakin 1	2226						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GGACGCCCGCGATGCAGCTGG	0.682																																						ENST00000525985.1																			0				NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						c.(6676-6678)atC>atT		epiplakin 1							82	86	85					8																	144940744		2137	4224	6361	SO:0001819	synonymous_variant	83481					cytoplasm|cytoskeleton	protein binding|structural molecule activity	g.chr8:144940744G>A	AB051895	CCDS75800.1	8q24.3	2014-09-17				ENSG00000261150			15577	protein-coding gene	gene with protein product	"epidermal autoantigen 450K"	607553				11278896, 15671067	Standard	NM_031308		Approved	EPIPL1	uc003zaa.1	P58107		ENST00000525985.1:c.6678C>T	8.37:g.144940744G>A							p.I2226I			P58107	EPIPL_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		2	6749	-	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		2226					Q76E58|Q9NSU9	Silent	SNP	ENST00000525985.1	37	c.6678C>T																																																																																					0.682	EPPK1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000382675.1	NM_031308		5	147	0	0	0	1	0	5	147					A	144940744	G	A	144940744	2	1	322	1	0	0	0	0	0	0	0	1	5190	1048	37	2		2	EPPK1	8	144940744	Silent	SNP	G	TCGA-KK-A7AU-01A-11D-A32B-08	49401972	144940744	1423278	21	16512											
DBH	1621	broad.mit.edu	37	chr9	136513016	136513016	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtactacacagccaagctgcGgcgcttcaacgcggggatca	10	6	12	13	4	2	0	2	0	0	0	2	1	2	1	1	3	6	3	1	3	4	3			TCGA-KK-A7AU-01A-11D-A32B-08	TCGA-KK-A7AU-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce4c568d-84ca-4819-a08b-7dca4ad7fc1a	f59ccc77-35be-4949-8994-517c407d30fd	g.chr9:136513016G>A	ENST00000393056.2	+	6	1085	c.1073G>A	c.(1072-1074)cGg>cAg	p.R358Q		NM_000787.3	NP_000778.3	P09172	DOPO_HUMAN	dopamine beta-hydroxylase (dopamine beta-monooxygenase)	358					behavioral response to ethanol (GO:0048149)|blood vessel remodeling (GO:0001974)|catecholamine biosynthetic process (GO:0042423)|cellular nitrogen compound metabolic process (GO:0034641)|cytokine production (GO:0001816)|dopamine catabolic process (GO:0042420)|fear response (GO:0042596)|glucose homeostasis (GO:0042593)|homoiothermy (GO:0042309)|leukocyte mediated immunity (GO:0002443)|leukocyte migration (GO:0050900)|locomotory behavior (GO:0007626)|maternal behavior (GO:0042711)|memory (GO:0007613)|norepinephrine biosynthetic process (GO:0042421)|positive regulation of vasoconstriction (GO:0045907)|regulation of cell proliferation (GO:0042127)|regulation of extrinsic apoptotic signaling pathway (GO:2001236)|response to amphetamine (GO:0001975)|response to pain (GO:0048265)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|secretory granule lumen (GO:0034774)	catalytic activity (GO:0003824)|copper ion binding (GO:0005507)|dopamine beta-monooxygenase activity (GO:0004500)|L-ascorbic acid binding (GO:0031418)			central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(9)|liver(1)|lung(6)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	36				OV - Ovarian serous cystadenocarcinoma(145;2.33e-07)|Epithelial(140;1.5e-06)|all cancers(34;1.66e-05)	Disulfiram(DB00822)|Dopamine(DB00988)|Propylthiouracil(DB00550)|Vitamin C(DB00126)	GCCAAGCTGCGGCGCTTCAAC	0.607																																						ENST00000393056.2																			0				central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(9)|liver(1)|lung(6)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	36						c.(1072-1074)cGg>cAg		dopamine beta-hydroxylase (dopamine beta-monooxygenase)	Dopamine(DB00988)|Vitamin C(DB00126)						113	86	95					9																	136513016		2203	4300	6503	SO:0001583	missense	1621				hormone biosynthetic process	chromaffin granule lumen|chromaffin granule membrane|extracellular region|integral to membrane|membrane fraction|soluble fraction|transport vesicle membrane	dopamine beta-monooxygenase activity|L-ascorbic acid binding	g.chr9:136513016G>A	X13256	CCDS6977.2	9q34	2013-06-03			ENSG00000123454	ENSG00000123454	1.14.17.1		2689	protein-coding gene	gene with protein product		609312					Standard	NM_000787		Approved	DBM	uc004cel.3	P09172	OTTHUMG00000020878	ENST00000393056.2:c.1073G>A	9.37:g.136513016G>A	ENSP00000376776:p.Arg358Gln						p.R358Q	NM_000787.3	NP_000778.3	P09172	DOPO_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;2.33e-07)|Epithelial(140;1.5e-06)|all cancers(34;1.66e-05)	6	1085	+			358					Q5T381|Q96AG2	Missense_Mutation	SNP	ENST00000393056.2	37	c.1073G>A	CCDS6977.2	.	.	.	.	.	.	.	.	.	.	G	20.8	4.044620	0.75732	.	.	ENSG00000123454	ENST00000393056	T	0.67523	-0.27	4.95	4.95	0.65309	Copper type II, ascorbate-dependent monooxygenase, N-terminal (1);PHM/PNGase F domain (2);	0.000000	0.85682	D	0.000000	D	0.85767	0.5773	M	0.91090	3.175	0.58432	D	0.999999	D	0.89917	1.0	D	0.79108	0.992	D	0.89456	0.3733	10	0.87932	D	0	-25.9727	18.1753	0.89759	0.0:0.0:1.0:0.0	.	358	P09172	DOPO_HUMAN	Q	358	ENSP00000376776:R358Q	ENSP00000376776:R358Q	R	+	2	0	DBH	135502837	1.000000	0.71417	0.851000	0.33527	0.101000	0.19017	9.071000	0.93980	2.274000	0.75844	0.561000	0.74099	CGG		0.607	DBH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054929.2	NM_000787		21	33	0	0	0	1	0	21	33					A	136513016	G	A	136513016	3	1	322	1	0	0	0	0	1	0	0	0	4250	1116	39	2	1095	2	DBH	9	136513016	Missense_Mutation	SNP	G	TCGA-KK-A7AU-01A-11D-A32B-08		136513016	4700415	22	16513											
CALHM2	51063	broad.mit.edu	37	chr10	105207301	105207301	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaacaccaggatggccaccaCgccgatgagcagccatccaa	13	3	10	15	2	0	1	0	1	0	0	1	4	1	2	6	2	3	1	6	2	2	0	rs2232662	byFrequency	TCGA-KK-A7AU-01A-11D-A32B-08	TCGA-KK-A7AU-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce4c568d-84ca-4819-a08b-7dca4ad7fc1a	f59ccc77-35be-4949-8994-517c407d30fd	g.chr10:105207301C>T	ENST00000260743.5	-	4	1103	c.580G>A	c.(580-582)Gtg>Atg	p.V194M	CALHM2_ENST00000494180.1_5'Flank|RP11-225H22.7_ENST00000608063.1_RNA|CALHM2_ENST00000369788.3_Missense_Mutation_p.V194M	NM_015916.4	NP_057000.2	Q9HA72	CAHM2_HUMAN	calcium homeostasis modulator 2	194			V -> M (in dbSNP:rs2232662).		ion transport (GO:0006811)	integral component of membrane (GO:0016021)				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(5)|skin(1)	11						ATGGCCACCACGCCGATGAGC	0.602													C|||	15	0.00299521	0.0045	0.0058	5008	,	,		19406	0		0.005	False		,,,				2504	0					ENST00000260743.5																			0				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(5)|skin(1)	11						c.(580-582)Gtg>Atg		calcium homeostasis modulator 2		C	MET/VAL	44,4360	45.3+/-79.5	0,44,2158	33	33	33		580	2.4	1	10	dbSNP_98	33	33,8565	21.6+/-65.8	0,33,4266	yes	missense	CALHM2	NM_015916.4	21	0,77,6424	TT,TC,CC		0.3838,0.9991,0.5922	benign	194/324	105207301	77,12925	2202	4299	6501	SO:0001583	missense	51063					integral to membrane		g.chr10:105207301C>T	BC000039	CCDS7549.1	10q24.33	2008-07-02	2008-07-02	2008-07-02	ENSG00000138172	ENSG00000138172			23493	protein-coding gene	gene with protein product		612235	"family with sequence similarity 26, member B"	FAM26B		18585350	Standard	NM_015916		Approved		uc001kxa.3	Q9HA72	OTTHUMG00000018990	ENST00000260743.5:c.580G>A	10.37:g.105207301C>T	ENSP00000260743:p.Val194Met					CALHM2_ENST00000369788.3_Missense_Mutation_p.V194M	p.V194M	NM_015916.4	NP_057000.2	Q9HA72	CAHM2_HUMAN			4	1103	-			194		V -> M (in dbSNP:rs2232662).			D3DR94|O95893|Q6ZUV9	Missense_Mutation	SNP	ENST00000260743.5	37	c.580G>A	CCDS7549.1	7	0.003205128205128205	2	0.0040650406504065045	2	0.0055248618784530384	0	0.0	3	0.00395778364116095	C	18.47	3.630290	0.67015	0.009991	0.003838	ENSG00000138172	ENST00000369788;ENST00000260743	T;T	0.20069	2.1;2.1	5.37	2.39	0.29439	.	0.568703	0.18152	N	0.150074	T	0.11707	0.0285	L	0.44542	1.39	0.54753	D	0.999981	P	0.43431	0.807	B	0.39465	0.3	T	0.02596	-1.1136	10	0.62326	D	0.03	-4.214	6.7617	0.23544	0.1261:0.6589:0.0:0.2149	rs2232662;rs2232662	194	Q9HA72	CAHM2_HUMAN	M	194	ENSP00000358803:V194M;ENSP00000260743:V194M	ENSP00000260743:V194M	V	-	1	0	CALHM2	105197291	0.048000	0.20356	0.986000	0.45419	0.997000	0.91878	0.420000	0.21263	0.603000	0.29913	0.561000	0.74099	GTG		0.602	CALHM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050159.1	NM_015916		17	26	0	0	0	1	0	17	26					T	105207301	C	T	105207301	3	4	322	1	0	0	0	0	1	0	0	0	2583	536	19	1	395	1	CALHM2	10	105207301	Missense_Mutation	SNP	C	TCGA-KK-A7AU-01A-11D-A32B-08		105207301	30327446	23	16514											
RECQL	5965	broad.mit.edu	37	chr12	21626537	21626537	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttacatgcttctgagttccaTacttcatcaaaatgttgagc	11	15	6	9	0	3	2	2	2	1	0	4	2	4	2	1	0	4	3	1	0	4	6			TCGA-KK-A7AU-01A-11D-A32B-08	TCGA-KK-A7AU-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce4c568d-84ca-4819-a08b-7dca4ad7fc1a	f59ccc77-35be-4949-8994-517c407d30fd	g.chr12:21626537T>C	ENST00000444129.2	-	12	1863	c.1395A>G	c.(1393-1395)gtA>gtG	p.V465V	RECQL_ENST00000421138.2_Silent_p.V465V	NM_002907.3|NM_032941.2	NP_002898.2|NP_116559.1	P46063	RECQ1_HUMAN	RecQ helicase-like	465					DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA strand renaturation (GO:0000733)	membrane (GO:0016020)|nucleus (GO:0005634)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|ATP-dependent 3'-5' DNA helicase activity (GO:0043140)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)			endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	17						CTGAGTTCCATACTTCATCAA	0.323								Other identified genes with known or suspected DNA repair function																														ENST00000444129.2																			0				endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	17						c.(1393-1395)gtA>gtG	Other identified genes with known or suspected DNA repair function	RecQ protein-like (DNA helicase Q1-like)							137	111	120					12																	21626537		2202	4299	6501	SO:0001819	synonymous_variant	5965				DNA recombination|DNA repair|DNA replication	nucleus	ATP binding|ATP-dependent 3'-5' DNA helicase activity|DNA strand annealing activity|protein binding	g.chr12:21626537T>C	D37984	CCDS31756.1	12p12.1	2014-03-07	2014-03-07	2014-03-07	ENSG00000004700	ENSG00000004700			9948	protein-coding gene	gene with protein product	"DNA helicase Q1-like"	600537	"RecQ protein-like (DNA helicase Q1-like)"			7527136, 7961977	Standard	NM_002907		Approved	RecQ1, RecQL1	uc001rex.3	P46063	OTTHUMG00000169131	ENST00000444129.2:c.1395A>G	12.37:g.21626537T>C						RECQL_ENST00000421138.2_Silent_p.V465V	p.V465V	NM_002907.3|NM_032941.2	NP_002898.2|NP_116559.1	P46063	RECQ1_HUMAN			12	1863	-			465					A8K6G2	Silent	SNP	ENST00000444129.2	37	c.1395A>G	CCDS31756.1																																																																																				0.323	RECQL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402371.1	NM_002907		4	49	0	0	0	1	0	4	49					C	21626537	T	C	21626537	2	2	322	1	0	0	0	0	0	0	0	1	13201	1393	49	4		4	RECQL	12	21626537	Silent	SNP	T	TCGA-KK-A7AU-01A-11D-A32B-08		21626537	112225358	24	16515											
RNF34	80196	broad.mit.edu	37	chr12	121855706	121855706	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	aaacatccagatctggagtgCcggcacaggtacgagggggt	11	6	15	9	2	1	1	0	0	1	1	2	3	2	2	2	5	3	2	2	5	2	1			TCGA-KK-A7AU-01A-11D-A32B-08	TCGA-KK-A7AU-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce4c568d-84ca-4819-a08b-7dca4ad7fc1a	f59ccc77-35be-4949-8994-517c407d30fd	g.chr12:121855706C>T	ENST00000392464.2	+	3	694	c.625C>T	c.(625-627)Ccg>Tcg	p.P209S	RNF34_ENST00000555076.1_Intron|RNF34_ENST00000392465.3_Missense_Mutation_p.P210S|RNF34_ENST00000361234.5_Missense_Mutation_p.P209S					ring finger protein 34, E3 ubiquitin protein ligase											breast(1)|large_intestine(1)	2	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000432)|Epithelial(86;0.00233)		ATCTGGAGTGCCGGCACAGGT	0.493																																						ENST00000361234.5																			0				breast(1)|large_intestine(1)	2						c.(625-627)Ccg>Tcg		ring finger protein 34, E3 ubiquitin protein ligase							98	112	107					12																	121855706		2203	4300	6503	SO:0001583	missense	80196				apoptosis	endomembrane system|membrane|nuclear speck	ligase activity|zinc ion binding	g.chr12:121855706C>T	AF306709, AB084914	CCDS9221.1, CCDS31915.1, CCDS73538.1	12q24.31	2012-02-23	2012-02-23			ENSG00000170633		"RING-type (C3HC4) zinc fingers"	17297	protein-coding gene	gene with protein product		608299	"ring finger protein 34"			12118383	Standard	NM_025126		Approved	RIFF, FLJ21786, RIF	uc001ual.2	Q969K3		ENST00000392464.2:c.625C>T	12.37:g.121855706C>T	ENSP00000376257:p.Pro209Ser					RNF34_ENST00000392465.3_Missense_Mutation_p.P210S|RNF34_ENST00000555076.1_Intron|RNF34_ENST00000392464.2_Missense_Mutation_p.P209S	p.P209S	NM_025126.3	NP_079402.2	Q969K3	RNF34_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000432)|Epithelial(86;0.00233)	3	797	+	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)		209						Missense_Mutation	SNP	ENST00000392464.2	37	c.625C>T		.	.	.	.	.	.	.	.	.	.	C	9.630	1.136128	0.21123	.	.	ENSG00000170633	ENST00000361234;ENST00000392465;ENST00000392464;ENST00000354795	T;T;T	0.30448	2.48;2.48;1.53	6.17	3.41	0.39046	.	0.701408	0.14556	N	0.312366	T	0.17959	0.0431	N	0.19112	0.55	0.49213	D	0.999766	B;B	0.18863	0.03;0.031	B;B	0.22601	0.029;0.04	T	0.04103	-1.0977	10	0.07990	T	0.79	-15.2453	10.0598	0.42268	0.0:0.7965:0.0:0.2035	.	209;210	Q969K3;Q969K3-2	RNF34_HUMAN;.	S	209;210;209;210	ENSP00000355137:P209S;ENSP00000376258:P210S;ENSP00000376257:P209S	ENSP00000346850:P210S	P	+	1	0	RNF34	120340089	0.132000	0.22450	0.428000	0.26697	0.257000	0.26127	0.552000	0.23376	0.496000	0.27904	0.655000	0.94253	CCG		0.493	RNF34-005	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000413892.1	NM_194271		4	223	0	0	0	1	0	4	223					T	121855706	C	T	121855706	3	4	322	1	0	0	0	0	1	0	0	0	13489	739	26	3	648	3	RNF34	12	121855706	Missense_Mutation	SNP	C	TCGA-KK-A7AU-01A-11D-A32B-08	100229169	121855706	11996189	25	16516											
FLT1	2321	broad.mit.edu	37	chr13	29012395	29012395	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgatgttaggtgacgtaaccCggcagggaatgacgagctcc	10	8	14	9	3	0	3	0	3	0	0	1	5	1	4	2	3	2	4	2	3	3	2			TCGA-KK-A7AU-01A-11D-A32B-08	TCGA-KK-A7AU-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce4c568d-84ca-4819-a08b-7dca4ad7fc1a	f59ccc77-35be-4949-8994-517c407d30fd	g.chr13:29012395C>T	ENST00000282397.4	-	4	727	c.476G>A	c.(475-477)cGg>cAg	p.R159Q	FLT1_ENST00000539099.1_Missense_Mutation_p.R159Q|FLT1_ENST00000541932.1_Missense_Mutation_p.R159Q	NM_002019.4	NP_002010.2	P17948	VGFR1_HUMAN	fms-related tyrosine kinase 1	159	Ig-like C2-type 2.				blood vessel morphogenesis (GO:0048514)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|embryonic morphogenesis (GO:0048598)|monocyte chemotaxis (GO:0002548)|patterning of blood vessels (GO:0001569)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein autophosphorylation (GO:0046777)|sprouting angiogenesis (GO:0002040)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor receptor-1 signaling pathway (GO:0036323)|vascular endothelial growth factor signaling pathway (GO:0038084)	endosome (GO:0005768)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|placental growth factor-activated receptor activity (GO:0036332)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)|VEGF-A-activated receptor activity (GO:0036326)|VEGF-B-activated receptor activity (GO:0036327)			NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Axitinib(DB06626)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	TGACGTAACCCGGCAGGGAAT	0.398																																						ENST00000282397.4																			0				NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115						c.(475-477)cGg>cAg		fms-related tyrosine kinase 1	Sunitinib(DB01268)						122	106	111					13																	29012395		2203	4300	6503	SO:0001583	missense	2321				cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway	extracellular space|Golgi apparatus|integral to plasma membrane|nucleus	ATP binding|growth factor binding|vascular endothelial growth factor receptor activity	g.chr13:29012395C>T	AF063657	CCDS9330.1, CCDS53860.1, CCDS53861.1, CCDS73556.1	13q12	2014-09-17	2012-11-19		ENSG00000102755	ENSG00000102755	2.7.10.1	"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	3763	protein-coding gene	gene with protein product	"vascular endothelial growth factor receptor 1", "vascular permeability factor receptor"	165070	"fms-related tyrosine kinase 1 (vascular endothelial growth factor/vascular permeability factor receptor)"	FLT		2158038	Standard	NM_001159920		Approved	VEGFR1	uc001usb.3	P17948	OTTHUMG00000016648	ENST00000282397.4:c.476G>A	13.37:g.29012395C>T	ENSP00000282397:p.Arg159Gln					FLT1_ENST00000541932.1_Missense_Mutation_p.R159Q|FLT1_ENST00000539099.1_Missense_Mutation_p.R159Q	p.R159Q	NM_002019.4	NP_002010.2	P17948	VGFR1_HUMAN	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	4	727	-	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	159			Ig-like C2-type 2.		A3E342|A3E344|A8KA71|B0LPF1|B2BF46|B2BF47|B2BF48|B3FR89|B5A923|F5H5L6|O60722|P16057|Q12954	Missense_Mutation	SNP	ENST00000282397.4	37	c.476G>A	CCDS9330.1	.	.	.	.	.	.	.	.	.	.	C	35	5.417593	0.96092	.	.	ENSG00000102755	ENST00000282397;ENST00000541932;ENST00000450836;ENST00000539099	T;T;T	0.53857	0.6;0.6;0.6	6.03	6.03	0.97812	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.73814	0.3635	M	0.74389	2.26	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;0.999;0.999;1.0	T	0.67845	-0.5565	10	0.30078	T	0.28	.	20.5568	0.99304	0.0:1.0:0.0:0.0	.	159;159;159;159	P17948-4;P17948-3;P17948-2;P17948	.;.;.;VGFR1_HUMAN	Q	159	ENSP00000282397:R159Q;ENSP00000437631:R159Q;ENSP00000442630:R159Q	ENSP00000282397:R159Q	R	-	2	0	FLT1	27910395	1.000000	0.71417	1.000000	0.80357	0.830000	0.47004	6.827000	0.75303	2.861000	0.98227	0.655000	0.94253	CGG		0.398	FLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044322.1			19	33	0	0	0	1	0	19	33					T	29012395	C	T	29012395	3	4	322	1	0	0	0	0	1	0	0	0	5941	652	23	2	3911	2	FLT1	13	29012395	Missense_Mutation	SNP	C	TCGA-KK-A7AU-01A-11D-A32B-08		29012395	86157483	26	16517											
ITGBL1	9358	broad.mit.edu	37	chr13	102235598	102235598	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtggtgaatgtacctgtcacGatgttgatccgactggggac	8	11	14	8	2	1	2	1	2	0	0	2	5	2	3	2	3	1	2	2	3	2	2	rs267603743		TCGA-KK-A7AU-01A-11D-A32B-08	TCGA-KK-A7AU-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce4c568d-84ca-4819-a08b-7dca4ad7fc1a	f59ccc77-35be-4949-8994-517c407d30fd	g.chr13:102235598G>A	ENST00000376180.3	+	6	979	c.760G>A	c.(760-762)Gat>Aat	p.D254N	ITGBL1_ENST00000545560.2_Missense_Mutation_p.D113N|ITGBL1_ENST00000376162.3_Missense_Mutation_p.D161N	NM_001271756.1|NM_004791.1	NP_001258685.1|NP_004782.1	O95965	ITGBL_HUMAN	integrin, beta-like 1 (with EGF-like repeat domains)	254	Cysteine-rich tandem repeats.				cell adhesion (GO:0007155)	extracellular region (GO:0005576)				breast(1)|large_intestine(6)|lung(16)|ovary(1)|prostate(4)|skin(3)	31	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					TACCTGTCACGATGTTGATCC	0.428																																						ENST00000376180.3																			0				breast(1)|large_intestine(6)|lung(16)|ovary(1)|prostate(4)|skin(3)	31						c.(760-762)Gat>Aat		integrin, beta-like 1 (with EGF-like repeat domains)							252	236	241					13																	102235598		2203	4300	6503	SO:0001583	missense	9358				cell-matrix adhesion|integrin-mediated signaling pathway	extracellular region|integrin complex	binding|receptor activity	g.chr13:102235598G>A	AF072752	CCDS9499.1, CCDS61361.1, CCDS61362.1, CCDS73594.1	13q33	2008-07-18			ENSG00000198542	ENSG00000198542			6164	protein-coding gene	gene with protein product	"ten integrin EGF-like repeat domains protein", "ITGBL1, integrin beta-like 1"	604234				10051402	Standard	NM_004791		Approved	TIED, OSCP	uc001vpb.4	O95965	OTTHUMG00000017296	ENST00000376180.3:c.760G>A	13.37:g.102235598G>A	ENSP00000365351:p.Asp254Asn					ITGBL1_ENST00000376162.3_Missense_Mutation_p.D161N|ITGBL1_ENST00000545560.2_Missense_Mutation_p.D113N	p.D254N	NM_001271756.1|NM_004791.1	NP_001258685.1|NP_004782.1	O95965	ITGBL_HUMAN			6	979	+	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		254			Cysteine-rich tandem repeats.		A8K5M5|B3KTP1|B4DQ02|Q8N172|Q9NPR0	Missense_Mutation	SNP	ENST00000376180.3	37	c.760G>A	CCDS9499.1	.	.	.	.	.	.	.	.	.	.	G	28.3	4.910882	0.92178	.	.	ENSG00000198542	ENST00000376180;ENST00000537118;ENST00000539955;ENST00000545560;ENST00000376162	D;D;D	0.92752	-3.1;-3.1;-3.1	5.25	5.25	0.73442	EGF, extracellular (1);	0.000000	0.85682	D	0.000000	D	0.93019	0.7778	N	0.25890	0.77	0.80722	D	1	D;D	0.76494	0.996;0.999	D;D	0.68192	0.956;0.932	D	0.92823	0.6274	10	0.41790	T	0.15	.	18.8235	0.92106	0.0:0.0:1.0:0.0	.	113;254	B3KTP1;O95965	.;ITGBL_HUMAN	N	254;162;113;113;161	ENSP00000365351:D254N;ENSP00000439903:D113N;ENSP00000365332:D161N	ENSP00000365332:D161N	D	+	1	0	ITGBL1	101033599	1.000000	0.71417	0.992000	0.48379	0.903000	0.53119	9.284000	0.95882	2.620000	0.88729	0.591000	0.81541	GAT		0.428	ITGBL1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045669.2	NM_004791		6	206	0	0	0	1	0	6	206					A	102235598	G	A	102235598	3	1	322	1	0	0	0	0	1	0	0	0	7902	1058	37	2	782	2	ITGBL1	13	102235598	Missense_Mutation	SNP	G	TCGA-KK-A7AU-01A-11D-A32B-08	73223203	102235598	12934280	27	16518											
C15orf57	90416	broad.mit.edu	37	chr15	40855084	40855084	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caccttcagggcaagaatccAcaaaggagtctgagaatgca	15	6	10	10	0	2	2	1	1	1	2	3	4	3	3	2	2	1	2	2	2	4	1			TCGA-KK-A7AU-01A-11D-A32B-08	TCGA-KK-A7AU-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce4c568d-84ca-4819-a08b-7dca4ad7fc1a	f59ccc77-35be-4949-8994-517c407d30fd	g.chr15:40855084A>C	ENST00000358005.3	-	2	404	c.131T>G	c.(130-132)gTg>gGg	p.V44G	C15orf57_ENST00000559911.1_Missense_Mutation_p.V44G|C15orf57_ENST00000558871.1_Missense_Mutation_p.V44G|C15orf57_ENST00000560109.1_5'UTR|C15orf57_ENST00000558750.1_Missense_Mutation_p.V53G|C15orf57_ENST00000560305.1_Missense_Mutation_p.V44G|C15orf57_ENST00000561011.1_Missense_Mutation_p.V44G|C15orf57_ENST00000558113.1_Missense_Mutation_p.V44G|C15orf57_ENST00000416810.2_Missense_Mutation_p.V44G	NM_001080791.1|NM_052849.2	NP_001074260.1|NP_443081.1	Q9BV29	CO057_HUMAN	chromosome 15 open reading frame 57	44										endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	9						GCAAGAATCCACAAAGGAGTC	0.512																																						ENST00000358005.3																			0				endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	9						c.(130-132)gTg>gGg		chromosome 15 open reading frame 57							183	177	179					15																	40855084		2203	4300	6503	SO:0001583	missense	90416							g.chr15:40855084A>C	BC012189	CCDS10060.1, CCDS42022.1, CCDS73706.1	15q15.1	2008-05-30	2008-05-30	2008-05-30	ENSG00000128891	ENSG00000128891			28295	protein-coding gene	gene with protein product			"coiled-coil domain containing 32"	CCDC32		12477932	Standard	NM_001080791		Approved	MGC20481	uc001zma.1	Q9BV29	OTTHUMG00000129993	ENST00000358005.3:c.131T>G	15.37:g.40855084A>C	ENSP00000350695:p.Val44Gly					C15orf57_ENST00000561011.1_Missense_Mutation_p.V44G|C15orf57_ENST00000558113.1_Missense_Mutation_p.V44G|C15orf57_ENST00000560305.1_Missense_Mutation_p.V44G|C15orf57_ENST00000560109.1_5'UTR|C15orf57_ENST00000559911.1_Missense_Mutation_p.V44G|C15orf57_ENST00000558871.1_Missense_Mutation_p.V44G|C15orf57_ENST00000416810.2_Missense_Mutation_p.V44G|C15orf57_ENST00000558750.1_Missense_Mutation_p.V53G	p.V44G	NM_001080791.1|NM_052849.2	NP_001074260.1|NP_443081.1	Q9BV29	CO057_HUMAN			2	404	-			44					A8KAL4|Q86TC4|Q8N788|Q8NAR7	Missense_Mutation	SNP	ENST00000358005.3	37	c.131T>G	CCDS10060.1	.	.	.	.	.	.	.	.	.	.	A	10.31	1.314631	0.23908	.	.	ENSG00000128891	ENST00000358005;ENST00000416810	T	0.45276	0.9	4.92	3.79	0.43588	.	0.729179	0.13713	N	0.367942	T	0.22742	0.0549	N	0.08118	0	0.39122	D	0.961689	B;B;B	0.27416	0.178;0.178;0.078	B;B;B	0.24541	0.054;0.054;0.054	T	0.14727	-1.0462	10	0.66056	D	0.02	-22.3122	8.5492	0.33440	0.8501:0.0:0.1499:0.0	.	44;53;44	Q9BV29;Q9BV29-2;Q9BV29-3	CO057_HUMAN;.;.	G	44;53	ENSP00000350695:V44G	ENSP00000350695:V44G	V	-	2	0	C15orf57	38642376	0.600000	0.26899	0.903000	0.35520	0.295000	0.27426	1.157000	0.31724	1.969000	0.57287	0.454000	0.30748	GTG		0.512	C15orf57-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000252259.2	NM_052849		24	233	0	0	0	1	0	24	233					C	40855084	A	C	40855084	3	2	322	1	0	0	0	0	1	0	0	0	1805	159	6	5	438	5	C15orf57	15	40855084	Missense_Mutation	SNP	A	TCGA-KK-A7AU-01A-11D-A32B-08		40855084	61676308	28	16519											
CAPN3	825	broad.mit.edu	37	chr15	42681285	42681285	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agaggctccctcatgggctgCtccattgatgtaagtctggg	7	11	13	10	0	2	2	1	1	1	1	4	2	4	2	2	3	1	4	2	3	1	2			TCGA-KK-A7AU-01A-11D-A32B-08	TCGA-KK-A7AU-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce4c568d-84ca-4819-a08b-7dca4ad7fc1a	f59ccc77-35be-4949-8994-517c407d30fd	g.chr15:42681285C>T	ENST00000397163.3	+	5	1011	c.792C>T	c.(790-792)tgC>tgT	p.C264C	CAPN3_ENST00000357568.3_Silent_p.C264C|RP11-164J13.1_ENST00000495723.1_RNA|CAPN3_ENST00000356316.3_Silent_p.C177C|CAPN3_ENST00000349748.3_Silent_p.C264C|CAPN3_ENST00000318023.7_Silent_p.C264C	NM_000070.2	NP_000061.1	P20807	CAN3_HUMAN	calpain 3, (p94)	264	Calpain catalytic. {ECO:0000255|PROSITE- ProRule:PRU00239}.				apoptotic process (GO:0006915)|autolysis (GO:0001896)|cellular response to calcium ion (GO:0071277)|cellular response to salt stress (GO:0071472)|G1 to G0 transition involved in cell differentiation (GO:0070315)|muscle cell cellular homeostasis (GO:0046716)|muscle organ development (GO:0007517)|muscle structure development (GO:0061061)|myofibril assembly (GO:0030239)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein sumoylation (GO:0033234)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of proteolysis (GO:0045862)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of satellite cell activation involved in skeletal muscle regeneration (GO:0014718)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein localization to membrane (GO:0072657)|proteolysis (GO:0006508)|regulation of catalytic activity (GO:0050790)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of myoblast differentiation (GO:0045661)|response to calcium ion (GO:0051592)|response to muscle activity (GO:0014850)|sarcomere organization (GO:0045214)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular (GO:0005622)|myofibril (GO:0030016)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|T-tubule (GO:0030315)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|catalytic activity (GO:0003824)|cysteine-type peptidase activity (GO:0008234)|ligase regulator activity (GO:0055103)|peptidase activity (GO:0008233)|protein complex scaffold (GO:0032947)|signal transducer activity (GO:0004871)|sodium ion binding (GO:0031402)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	47		all_cancers(109;1.65e-16)|all_epithelial(112;8.34e-15)|Lung NSC(122;3.56e-09)|all_lung(180;1.68e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;7.36e-07)		TCATGGGCTGCTCCATTGATG	0.527																																						ENST00000397163.3																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	47						c.(790-792)tgC>tgT		calpain 3, (p94)							82	82	82					15																	42681285		2203	4299	6502	SO:0001819	synonymous_variant	825				muscle organ development|proteolysis	cytoplasm	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity|signal transducer activity	g.chr15:42681285C>T	X85030	CCDS10085.1, CCDS10086.1, CCDS32207.1, CCDS45245.1, CCDS45246.1	15q15.1	2014-09-17			ENSG00000092529	ENSG00000092529	3.4.22.52	"EF-hand domain containing"	1480	protein-coding gene	gene with protein product		114240		LGMD2, LGMD2A		2555341, 7720071	Standard	NM_024344		Approved	CANP3, p94, nCL-1	uc001zpn.1	P20807	OTTHUMG00000130619	ENST00000397163.3:c.792C>T	15.37:g.42681285C>T						CAPN3_ENST00000357568.3_Silent_p.C264C|CAPN3_ENST00000356316.3_Silent_p.C177C|CAPN3_ENST00000349748.3_Silent_p.C264C|CAPN3_ENST00000318023.7_Silent_p.C264C|RP11-164J13.1_ENST00000495723.1_RNA	p.C264C	NM_000070.2	NP_000061.1	P20807	CAN3_HUMAN		GBM - Glioblastoma multiforme(94;7.36e-07)	5	1011	+		all_cancers(109;1.65e-16)|all_epithelial(112;8.34e-15)|Lung NSC(122;3.56e-09)|all_lung(180;1.68e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)	264			Calpain catalytic.		A6H8K6|Q7L4R0|Q9BQC8|Q9BTU4|Q9Y5S6|Q9Y5S7	Silent	SNP	ENST00000397163.3	37	c.792C>T	CCDS45245.1																																																																																				0.527	CAPN3-009	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000421075.1			24	65	0	0	0	1	0	24	65					T	42681285	C	T	42681285	2	4	322	1	0	0	0	0	0	0	0	1	2628	805	28	3		3	CAPN3	15	42681285	Silent	SNP	C	TCGA-KK-A7AU-01A-11D-A32B-08	1826201	42681285	59850107	29	16520											
TP53	7157	broad.mit.edu	37	chr17	7576927	7576927	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gctggtgttgttgggcagtgCtaggaaagaggcaaggaaag	11	8	18	4	0	0	1	0	0	0	1	0	3	0	3	0	5	1	6	0	5	4	3	rs587781702		TCGA-KK-A7AU-01A-11D-A32B-08	TCGA-KK-A7AU-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce4c568d-84ca-4819-a08b-7dca4ad7fc1a	f59ccc77-35be-4949-8994-517c407d30fd	g.chr17:7576927C>A	ENST00000269305.4	-	9	1109		c.e9-1		TP53_ENST00000359597.4_Splice_Site|TP53_ENST00000420246.2_Splice_Site|TP53_ENST00000455263.2_Splice_Site|TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Splice_Site|TP53_ENST00000574684.1_5'Flank	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53						apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.?(20)|p.0?(8)|p.A307fs*34(1)|p.L308fs*31(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	TTGGGCAGTGCTAGGAAAGAG	0.493		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"Mis, N, F"	tumor protein p53			"L, E, M, O"		"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"	"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"		30	Unknown(20)|Whole gene deletion(8)|Deletion - Frameshift(2)	p.?(20)|p.0?(8)|p.A307fs*34(1)|p.L308fs*31(1)	upper_aerodigestive_tract(7)|ovary(5)|bone(4)|central_nervous_system(3)|lung(3)|haematopoietic_and_lymphoid_tissue(2)|breast(2)|liver(2)|stomach(1)|gastrointestinal_tract_(site_indeterminate)(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185						c.e9-1	Other conserved DNA damage response genes	tumor protein p53							138	124	129					17																	7576927		2203	4300	6503	SO:0001630	splice_region_variant	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7576927C>A	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"Li-Fraumeni syndrome"	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.920-1G>T	17.37:g.7576927C>A		HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_ENST00000445888.2_Splice_Site|TP53_ENST00000455263.2_Splice_Site|TP53_ENST00000359597.4_Splice_Site|TP53_ENST00000269305.4_Splice_Site|TP53_ENST00000413465.2_Intron		NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	9	1052	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)						Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Splice_Site	SNP	ENST00000269305.4	37		CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	9.522	1.108605	0.20714	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	.	.	.	4.71	4.71	0.59529	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.0356	0.58870	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TP53	7517652	0.043000	0.20138	0.996000	0.52242	0.305000	0.27757	0.852000	0.27764	2.462000	0.83206	0.561000	0.74099	.		0.493	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546	Intron	39	14	1	0	1.60099e-16	1	1.85569e-16	39	14					A	7576927	C	A	7576927	5	1	322	1	0	0	0	0	0	0	1	0	16378	811	28	5	363	5	TP53	17	7576927	Splice_Site	SNP	C	TCGA-KK-A7AU-01A-11D-A32B-08		7576927	73618283	30	16521											
CEP192	55125	broad.mit.edu	37	chr18	13056131	13056131	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tctgagctgtcaggtggggtCagccacatcacaccctgtgt	7	10	12	12	0	4	1	3	1	1	0	4	1	4	1	2	3	2	1	2	3	0	0			TCGA-KK-A7AU-01A-11D-A32B-08	TCGA-KK-A7AU-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce4c568d-84ca-4819-a08b-7dca4ad7fc1a	f59ccc77-35be-4949-8994-517c407d30fd	g.chr18:13056131C>G	ENST00000325971.8	+	17	3347	c.1754C>G	c.(1753-1755)tCa>tGa	p.S585*	CEP192_ENST00000506447.1_Nonsense_Mutation_p.S1181*|CEP192_ENST00000430049.2_Nonsense_Mutation_p.S706*			Q8TEP8	CE192_HUMAN	centrosomal protein 192kDa	585					centrosome duplication (GO:0051298)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|negative regulation of phosphatase activity (GO:0010923)|spindle assembly (GO:0051225)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)	phosphatase binding (GO:0019902)			NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(36)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						CAGGTGGGGTCAGCCACATCA	0.527																																						ENST00000506447.1																			0				NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(36)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						c.(3541-3543)tCa>tGa		centrosomal protein 192kDa							58	59	59					18																	13056131		2203	4300	6503	SO:0001587	stop_gained	55125							g.chr18:13056131C>G	AK074074	CCDS32792.1, CCDS32792.2	18p11.21	2014-02-20				ENSG00000101639		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	25515	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 62"					11230166, 14654843	Standard	NM_032142		Approved	KIAA1569, FLJ10352, PPP1R62	uc010xac.2	Q8TEP8		ENST00000325971.8:c.1754C>G	18.37:g.13056131C>G	ENSP00000317156:p.Ser585*					CEP192_ENST00000430049.2_Nonsense_Mutation_p.S706*|CEP192_ENST00000325971.8_Nonsense_Mutation_p.S585*	p.S1181*	NM_032142.3	NP_115518.3	B7ZMF0	B7ZMF0_HUMAN			19	3622	+			776					A0A060A9S4|E9PF99|Q8WYT8|Q9H0F4|Q9NW27	Nonsense_Mutation	SNP	ENST00000325971.8	37	c.3542C>G		.	.	.	.	.	.	.	.	.	.	C	35	5.596238	0.96602	.	.	ENSG00000101639	ENST00000506447;ENST00000325971;ENST00000399863;ENST00000430049	.	.	.	4.71	2.87	0.33458	.	1.247150	0.05806	N	0.613086	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.45353	T	0.12	0.0242	7.2214	0.25990	0.1677:0.7445:0.0:0.0878	.	.	.	.	X	1181;585;585;706	.	ENSP00000317156:S585X	S	+	2	0	CEP192	13046131	0.000000	0.05858	0.002000	0.10522	0.093000	0.18481	0.263000	0.18478	0.492000	0.27815	0.563000	0.77884	TCA		0.527	CEP192-201	KNOWN	basic	protein_coding	protein_coding		NM_032142		23	38	0	0	0	1	0	23	38					G	13056131	C	G	13056131	4	3	322	1	0	0	0	0	0	1	0	0	3251	838	29	5	3612	5	CEP192	18	13056131	Nonsense_Mutation	SNP	C	TCGA-KK-A7AU-01A-11D-A32B-08		13056131	65021117	31	16522											
MLL4	9757	broad.mit.edu	37	chr19	36211883	36211883	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgtcatcaagacaccccggcGatttatggatgaagaccccc	11	8	9	13	2	2	3	2	1	0	2	2	5	2	4	4	2	0	0	4	2	3	2	rs202218975		TCGA-KK-A7AU-01A-11D-A32B-08	TCGA-KK-A7AU-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce4c568d-84ca-4819-a08b-7dca4ad7fc1a	f59ccc77-35be-4949-8994-517c407d30fd	g.chr19:36211883G>A	ENST00000222270.7	+	3	1634	c.1634G>A	c.(1633-1635)cGa>cAa	p.R545Q	KMT2B_ENST00000341701.1_Intron|KMT2B_ENST00000420124.1_Missense_Mutation_p.R545Q|KMT2B_ENST00000607650.1_RNA	NM_014727.1	NP_055542.1	Q9UMN6	KMT2B_HUMAN	lysine (K)-specific methyltransferase 2B	545	Pro-rich.				chromatin-mediated maintenance of transcription (GO:0048096)|gene silencing (GO:0016458)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|oocyte differentiation (GO:0009994)|ovarian follicle development (GO:0001541)|ovulation (GO:0030728)|regulation of histone H3-K4 methylation (GO:0051569)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)										ACACCCCGGCGATTTATGGAT	0.587													G|||	1	0.000199681	0	0	5008	,	,		8240	0		0.001	False		,,,				2504	0					ENST00000420124.1																			0											c.(1633-1635)cGa>cAa									32	36	35					19																	36211883		1925	4134	6059	SO:0001583	missense	0							g.chr19:36211883G>A	AJ007041	CCDS46055.1	19q13.1	2014-02-18			ENSG00000105663	ENSG00000272333		"Chromatin-modifying enzymes / K-methyltransferases"	15840	protein-coding gene	gene with protein product	"myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila) 4"	606834				10409430, 10637508	Standard	XM_006723513		Approved	KIAA0304, MLL2, TRX2, HRX2, WBP7, MLL1B, MLL4		Q9UMN6	OTTHUMG00000048119	ENST00000222270.7:c.1634G>A	19.37:g.36211883G>A	ENSP00000222270:p.Arg545Gln					KMT2B_ENST00000607650.1_RNA|WBP7_ENST00000222270.7_Missense_Mutation_p.R545Q|WBP7_ENST00000341701.1_Intron	p.R545Q							3	1634	+								O15022|O95836|Q96GP2|Q96IP3|Q9UK25|Q9Y668|Q9Y669	Missense_Mutation	SNP	ENST00000222270.7	37	c.1634G>A	CCDS46055.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	15.38	2.815302	0.50527	.	.	ENSG00000105663	ENST00000222270;ENST00000420124	D;D	0.88586	-2.4;-2.4	4.62	4.62	0.57501	.	0.000000	0.33572	N	0.004776	D	0.88908	0.6565	N	0.14661	0.345	0.45330	D	0.998328	D	0.89917	1.0	D	0.79108	0.992	D	0.88787	0.3275	10	0.34782	T	0.22	.	16.3929	0.83545	0.0:0.0:1.0:0.0	.	545	Q9UMN6	MLL4_HUMAN	Q	545	ENSP00000222270:R545Q;ENSP00000398837:R545Q	ENSP00000222270:R545Q	R	+	2	0	AD000671.1	40903723	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.712000	0.91403	2.400000	0.81607	0.555000	0.69702	CGA		0.587	KMT2B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_014727		7	8	0	0	0	1	0	7	8					A	36211883	G	A	36211883	3	1	322	1	0	0	0	0	1	0	0	0	9623	1058	37	2	1644	2	MLL4	19	36211883	Missense_Mutation	SNP	G	TCGA-KK-A7AU-01A-11D-A32B-08		36211883	22917100	32	16523											
MYBL2	4605	broad.mit.edu	37	chr20	42331293	42331293	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcccagtgtgaccgagtaccGcctggatggccacaccatct	8	7	11	15	2	1	1	0	1	1	0	1	3	1	2	6	2	1	1	6	2	1	1			TCGA-KK-A7AU-01A-11D-A32B-08	TCGA-KK-A7AU-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce4c568d-84ca-4819-a08b-7dca4ad7fc1a	f59ccc77-35be-4949-8994-517c407d30fd	g.chr20:42331293G>A	ENST00000217026.4	+	8	1242	c.1115G>A	c.(1114-1116)cGc>cAc	p.R372H	MYBL2_ENST00000396863.4_Missense_Mutation_p.R348H	NM_002466.2	NP_002457.1	P10244	MYBB_HUMAN	v-myb avian myeloblastosis viral oncogene homolog-like 2	372					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell cycle (GO:0051726)|spindle assembly involved in mitosis (GO:0090307)	Myb complex (GO:0031523)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	46		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			ACCGAGTACCGCCTGGATGGC	0.637																																						ENST00000217026.4																			0				endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	46						c.(1114-1116)cGc>cAc		v-myb avian myeloblastosis viral oncogene homolog-like 2							106	103	104					20																	42331293		2203	4300	6503	SO:0001583	missense	4605					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr20:42331293G>A		CCDS13322.1, CCDS63276.1	20q13.1	2013-07-09	2013-07-09		ENSG00000101057	ENSG00000101057			7548	protein-coding gene	gene with protein product		601415				8812502	Standard	NM_002466		Approved	BMYB, B-MYB	uc002xlb.1	P10244	OTTHUMG00000033062	ENST00000217026.4:c.1115G>A	20.37:g.42331293G>A	ENSP00000217026:p.Arg372His					MYBL2_ENST00000396863.4_Missense_Mutation_p.R348H	p.R372H	NM_002466.2	NP_002457.1	P10244	MYBB_HUMAN	COAD - Colon adenocarcinoma(18;0.0031)		8	1242	+		Myeloproliferative disorder(115;0.00452)	372					B2RBS5|B7Z8D9|F8W6N6|Q53F07	Missense_Mutation	SNP	ENST00000217026.4	37	c.1115G>A	CCDS13322.1	.	.	.	.	.	.	.	.	.	.	G	32	5.180769	0.94846	.	.	ENSG00000101057	ENST00000396863;ENST00000217026	T;T	0.17213	2.29;2.3	4.99	4.99	0.66335	.	0.053127	0.85682	D	0.000000	T	0.22085	0.0532	L	0.27053	0.805	0.80722	D	1	B;D	0.69078	0.015;0.997	B;P	0.54210	0.007;0.745	T	0.01600	-1.1315	10	0.27082	T	0.32	-29.2097	17.4343	0.87547	0.0:0.0:1.0:0.0	.	348;372	F8W6N6;P10244	.;MYBB_HUMAN	H	348;372	ENSP00000380072:R348H;ENSP00000217026:R372H	ENSP00000217026:R372H	R	+	2	0	MYBL2	41764707	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	9.186000	0.94906	2.488000	0.83962	0.462000	0.41574	CGC		0.637	MYBL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080408.1	NM_002466		67	99	0	0	0	1	0	67	99					A	42331293	G	A	42331293	3	1	322	1	0	0	0	0	1	0	0	0	10010	1087	38	1	1145	1	MYBL2	20	42331293	Missense_Mutation	SNP	G	TCGA-KK-A7AU-01A-11D-A32B-08		42331293	20694227	33	16524											
NCF4	4689	broad.mit.edu	37	chr22	37266570	37266570	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcactccgccggctccgcccGcgcacccggaaagtgtaagt	7	5	12	17	6	0	0	0	0	0	0	2	1	2	1	5	2	0	4	5	2	2	1	rs554368196		TCGA-KK-A7AU-01A-11D-A32B-08	TCGA-KK-A7AU-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce4c568d-84ca-4819-a08b-7dca4ad7fc1a	f59ccc77-35be-4949-8994-517c407d30fd	g.chr22:37266570G>A	ENST00000248899.6	+	5	640	c.456G>A	c.(454-456)ccG>ccA	p.P152P	CTA-833B7.2_ENST00000330602.2_RNA|NCF4_ENST00000397147.4_Silent_p.P152P|CTA-833B7.2_ENST00000431290.1_RNA	NM_000631.4	NP_000622.2	Q15080	NCF4_HUMAN	neutrophil cytosolic factor 4, 40kDa	152					antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|immune response (GO:0006955)|interaction with host (GO:0051701)|oxidation-reduction process (GO:0055114)|phagosome maturation (GO:0090382)|positive regulation of catalytic activity (GO:0043085)	cytosol (GO:0005829)|endosome membrane (GO:0010008)|membrane (GO:0016020)|NADPH oxidase complex (GO:0043020)|phagolysosome (GO:0032010)	phosphatidylinositol-3-phosphate binding (GO:0032266)|protein dimerization activity (GO:0046983)|superoxide-generating NADPH oxidase activator activity (GO:0016176)			cervix(1)|endometrium(4)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	16					Dextromethorphan(DB00514)	GGCTCCGCCCGCGCACCCGGA	0.612																																						ENST00000397147.4																			0				cervix(1)|endometrium(4)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	16						c.(454-456)ccG>ccA		neutrophil cytosolic factor 4, 40kDa							49	49	49					22																	37266570		2203	4300	6503	SO:0001819	synonymous_variant	4689				cell communication|immune response|oxidation-reduction process	cytosol|NADPH oxidase complex	phosphatidylinositol binding|protein dimerization activity	g.chr22:37266570G>A	X77094	CCDS13934.1, CCDS13935.1	22q13.1	2014-09-17	2002-08-29		ENSG00000100365	ENSG00000100365			7662	protein-coding gene	gene with protein product	"neutrophil NADPH oxidase factor 4"	601488	"neutrophil cytosolic factor 4 (40kD)"			8839867	Standard	NM_013416		Approved	p40phox, SH3PXD4	uc003apy.4	Q15080	OTTHUMG00000150548	ENST00000248899.6:c.456G>A	22.37:g.37266570G>A						NCF4_ENST00000248899.6_Silent_p.P152P	p.P152P	NM_013416.3	NP_038202.2	Q15080	NCF4_HUMAN			5	640	+			152					A8K4F9|O60808|Q86U56|Q9BU98|Q9NP45	Silent	SNP	ENST00000248899.6	37	c.456G>A	CCDS13934.1																																																																																				0.612	NCF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318863.1	NM_000631		30	45	0	0	0	1	0	30	45					A	37266570	G	A	37266570	2	1	322	1	0	0	0	0	0	0	0	1	10218	1074	38	1		1	NCF4	22	37266570	Silent	SNP	G	TCGA-KK-A7AU-01A-11D-A32B-08		37266570	14037996	34	16525											
ATP2B3	492	broad.mit.edu	37	chrX	152815041	152815041	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gccatctgctccgacaagacGggcacgctcaccaccaaccg	10	4	9	18	4	2	1	1	0	1	1	3	2	3	1	5	1	2	3	5	1	2	0	rs373112886		TCGA-KK-A7AU-01A-11D-A32B-08	TCGA-KK-A7AU-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce4c568d-84ca-4819-a08b-7dca4ad7fc1a	f59ccc77-35be-4949-8994-517c407d30fd	g.chrX:152815041G>A	ENST00000349466.2	+	10	1751	c.1425G>A	c.(1423-1425)acG>acA	p.T475T	ATP2B3_ENST00000393842.1_Silent_p.T461T|ATP2B3_ENST00000359149.3_Silent_p.T475T|ATP2B3_ENST00000263519.4_Silent_p.T475T|ATP2B3_ENST00000370186.1_Silent_p.T461T|ATP2B3_ENST00000370181.2_Silent_p.T461T			Q16720	AT2B3_HUMAN	ATPase, Ca++ transporting, plasma membrane 3	475					blood coagulation (GO:0007596)|cell death (GO:0008219)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)|transport (GO:0006810)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|metal ion binding (GO:0046872)	p.G476C(3)|p.G462C(1)		NS(2)|breast(5)|endometrium(7)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(3)	50	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CCGACAAGACGGGCACGCTCA	0.592																																						ENST00000370186.1																			4	Substitution - Missense(4)	p.G476C(3)|p.G462C(1)	lung(4)	NS(2)|breast(5)|endometrium(7)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(3)	50						c.(1381-1383)acG>acA		ATPase, Ca++ transporting, plasma membrane 3		A	,	1,3834		0,0,1,1632,570	180	138	152		1425,1425	-4.8	0.9	X		152	0,6728		0,0,0,2428,1872	no	coding-synonymous,coding-synonymous	ATP2B3	NM_001001344.2,NM_021949.3	,	0,0,1,4060,2442	AA,AG,A,GG,G		0.0,0.0261,0.0095	,	475/1221,475/1174	152815041	1,10562	2203	4300	6503	SO:0001819	synonymous_variant	492				ATP biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding	g.chrX:152815041G>A	U60414	CCDS14722.1, CCDS35440.1	Xq28	2014-07-18			ENSG00000067842	ENSG00000067842	3.6.3.8	"ATPases / P-type"	816	protein-coding gene	gene with protein product	"plasma membrane calcium-transporting ATPase 3", "cilia and flagella associated protein 39"	300014	"spinocerebellar ataxia, X-linked 1", "cerebellar ataxia 2 (X-linked)"	SCAX1, CLA2		8187550, 22912398	Standard	NM_021949		Approved	PMCA3, CFAP39	uc004fht.1	Q16720	OTTHUMG00000024202	ENST00000349466.2:c.1425G>A	X.37:g.152815041G>A						ATP2B3_ENST00000393842.1_Silent_p.T461T|ATP2B3_ENST00000370181.2_Silent_p.T461T|ATP2B3_ENST00000359149.3_Silent_p.T475T|ATP2B3_ENST00000263519.4_Silent_p.T475T|ATP2B3_ENST00000349466.2_Silent_p.T475T	p.T461T			Q16720	AT2B3_HUMAN			9	1709	+	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		475					B7WNR8|B7WNY5|Q12995|Q16858	Silent	SNP	ENST00000349466.2	37	c.1383G>A	CCDS35440.1																																																																																				0.592	ATP2B3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060957.1	NM_021949		75	6	0	0	0	1	0	75	6					A	152815041	G	A	152815041	2	1	322	1	0	0	0	0	0	0	0	1	1141	1103	39	2		2	ATP2B3	23	152815041	Silent	SNP	G	TCGA-KK-A7AU-01A-11D-A32B-08		152815041	2455519	35	16526											
EPHA8	2046	broad.mit.edu	37	chr1	22927492	22927492	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgttggcacaaggaccgggcGcagcggcctcgcttctccca	6	7	13	15	4	1	0	0	0	1	0	3	1	1	1	3	4	1	4	3	4	1	2	rs150399375	byFrequency	TCGA-KK-A7AV-01A-11D-A32B-08	TCGA-KK-A7AV-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f3b9e81-6a08-4d69-9cfa-8a6b2debb441	ac932a61-4c1c-4987-96e1-97364aca3e20	g.chr1:22927492G>T	ENST00000166244.3	+	15	2712	c.2640G>T	c.(2638-2640)gcG>gcT	p.A880A		NM_020526.3	NP_065387.1	P29322	EPHA8_HUMAN	EPH receptor A8	880	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|ephrin receptor signaling pathway (GO:0048013)|neuron projection development (GO:0031175)|neuron remodeling (GO:0016322)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|protein autophosphorylation (GO:0046777)|regulation of cell adhesion (GO:0030155)|regulation of cell adhesion mediated by integrin (GO:0033628)|substrate-dependent cell migration (GO:0006929)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)	ATP binding (GO:0005524)|GPI-linked ephrin receptor activity (GO:0005004)			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(6)|lung(22)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		AGGACCGGGCGCAGCGGCCTC	0.662																																						ENST00000166244.3																			0				breast(3)|central_nervous_system(5)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(6)|lung(22)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61						c.(2638-2640)gcG>gcT		EPH receptor A8		G		0,4406		0,0,2203	64	61	62		2640	-0.1	1	1	dbSNP_134	62	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	EPHA8	NM_020526.3		0,1,6502	TT,TG,GG		0.0116,0.0,0.0077		880/1006	22927492	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	2046					integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr1:22927492G>T	BC038796	CCDS225.1, CCDS30626.1	1p36.12	2013-02-11	2004-10-28		ENSG00000070886	ENSG00000070886	2.7.10.1	"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3391	protein-coding gene	gene with protein product		176945	"EphA8"	EEK		1648701	Standard	NM_001006943		Approved	Hek3	uc001bfx.1	P29322	OTTHUMG00000002892	ENST00000166244.3:c.2640G>T	1.37:g.22927492G>T							p.A880A	NM_020526.3	NP_065387.1	P29322	EPHA8_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)	15	2712	+		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)	880			Protein kinase.		Q6IN80|Q8IUX6|Q9NUA9|Q9P269	Silent	SNP	ENST00000166244.3	37	c.2640G>T	CCDS225.1																																																																																				0.662	EPHA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008085.1	NM_020526		3	46	1	0	6.4e-05	1	8.22857e-05	3	46					T	22927492	G	T	22927492	2	4	323	1	0	0	0	0	0	0	0	1	5173	1074	38	5		5	EPHA8	1	22927492	Silent	SNP	G	TCGA-KK-A7AV-01A-11D-A32B-08		22927492	226323129	1	16527											
NCDN	23154	broad.mit.edu	37	chr1	36026232	36026232	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gacacctaccagtgcctgacGgctgtagcaggcacacccag	10	5	11	15	1	0	1	0	1	0	0	0	2	0	1	4	2	3	4	4	2	2	2	rs139104373		TCGA-KK-A7AV-01A-11D-A32B-08	TCGA-KK-A7AV-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f3b9e81-6a08-4d69-9cfa-8a6b2debb441	ac932a61-4c1c-4987-96e1-97364aca3e20	g.chr1:36026232G>T	ENST00000373243.2	+	3	863	c.480G>T	c.(478-480)acG>acT	p.T160T	NCDN_ENST00000356090.4_Silent_p.T160T|NCDN_ENST00000459931.1_3'UTR|NCDN_ENST00000373253.3_Silent_p.T143T	NM_014284.2	NP_055099.1	Q9UBB6	NCDN_HUMAN	neurochondrin	160					bone resorption (GO:0045453)|neuron projection development (GO:0031175)|regulation of neuronal synaptic plasticity (GO:0048168)	cytosol (GO:0005829)|dendrite (GO:0030425)|membrane (GO:0016020)|neuronal cell body (GO:0043025)				breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|pancreas(1)|skin(2)	16		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				AGTGCCTGACGGCTGTAGCAG	0.617																																						ENST00000373243.2																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|pancreas(1)|skin(2)	16						c.(478-480)acG>acT		neurochondrin							73	75	74					1																	36026232		2203	4300	6503	SO:0001819	synonymous_variant	23154				neuron projection development	cytosol|dendrite|neuronal cell body		g.chr1:36026232G>T	AB011179	CCDS392.1, CCDS30672.1	1p34.3	2008-02-05			ENSG00000020129	ENSG00000020129			17597	protein-coding gene	gene with protein product		608458				15007648	Standard	NM_014284		Approved	NCDN-1, NCDN-2	uc001bza.3	Q9UBB6	OTTHUMG00000059204	ENST00000373243.2:c.480G>T	1.37:g.36026232G>T						NCDN_ENST00000356090.4_Silent_p.T160T|NCDN_ENST00000459931.1_3'UTR|NCDN_ENST00000373253.3_Silent_p.T143T	p.T160T	NM_014284.2	NP_055099.1	Q9UBB6	NCDN_HUMAN			3	863	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)	160					D3DPR9|Q9UBY2|Q9Y4A6|Q9Y4D9	Silent	SNP	ENST00000373243.2	37	c.480G>T	CCDS392.1																																																																																				0.617	NCDN-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131298.1	NM_014284		4	78	1	0	0.150653	1	0.150653	4	78					T	36026232	G	T	36026232	2	4	323	1	0	0	0	0	0	0	0	1	10214	1103	39	5		5	NCDN	1	36026232	Silent	SNP	G	TCGA-KK-A7AV-01A-11D-A32B-08	13098740	36026232	213224389	2	16528											
COL11A1	1301	broad.mit.edu	37	chr1	103400616	103400616	+	Splice_Site	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaacaatgtggaatactcacAgcaattccaggggcaccaac	15	6	9	11	0	1	0	1	0	0	0	2	2	2	1	2	3	4	2	2	3	6	2			TCGA-KK-A7AV-01A-11D-A32B-08	TCGA-KK-A7AV-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f3b9e81-6a08-4d69-9cfa-8a6b2debb441	ac932a61-4c1c-4987-96e1-97364aca3e20	g.chr1:103400616A>T	ENST00000370096.3	-	45	3804	c.3492T>A	c.(3490-3492)gcT>gcA	p.A1164A	COL11A1_ENST00000512756.1_Splice_Site_p.A1048A|COL11A1_ENST00000358392.2_Splice_Site_p.A1176A|COL11A1_ENST00000353414.4_Splice_Site_p.A1125A	NM_001854.3	NP_001845.3	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	1164	Triple-helical region.				cartilage condensation (GO:0001502)|chondrocyte development (GO:0002063)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|embryonic skeletal system morphogenesis (GO:0048704)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|proteoglycan metabolic process (GO:0006029)|sensory perception of sound (GO:0007605)|tendon development (GO:0035989)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visual perception (GO:0007601)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		GAATACTCACAGCAATTCCAG	0.428																																						ENST00000358392.2																			0				NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258						c.e45+1		collagen, type XI, alpha 1							38	40	39					1																	103400616		2203	4300	6503	SO:0001630	splice_region_variant	1301				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging	g.chr1:103400616A>T	J04177	CCDS778.1, CCDS780.1, CCDS780.2, CCDS53348.1	1p21	2013-01-16			ENSG00000060718	ENSG00000060718		"Collagens"	2186	protein-coding gene	gene with protein product	"collagen XI, alpha-1 polypeptide"	120280		COLL6		3182841	Standard	NM_080630		Approved	STL2, CO11A1	uc001dul.3	P12107	OTTHUMG00000010872	ENST00000370096.3:c.3492+1T>A	1.37:g.103400616A>T						COL11A1_ENST00000353414.4_Splice_Site_p.A1125_splice|COL11A1_ENST00000512756.1_Splice_Site_p.A1048_splice|COL11A1_ENST00000370096.3_Splice_Site_p.A1164_splice	p.A1176_splice	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)	45	3845	-		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)	1164			Triple-helical region.		B1ASK7|D3DT73|E9PCU0|Q14034|Q149N0|Q9UIT4|Q9UIT5|Q9UIT6	Splice_Site	SNP	ENST00000370096.3	37	c.3528_splice	CCDS778.1																																																																																				0.428	COL11A1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000029997.1	NM_080630	Silent	3	31	0	0	0	1	0	3	31					T	103400616	A	T	103400616	5	4	323	1	0	0	0	0	0	0	1	0	3667	202	7	5	2020	5	COL11A1	1	103400616	Splice_Site	SNP	A	TCGA-KK-A7AV-01A-11D-A32B-08	67374384	103400616	145850005	3	16529											
NBPF9	400818	broad.mit.edu	37	chr1	144821954	144821954	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tctgaagaggaggaagtcccCcaggagtcctgggatgaagg	11	6	16	8	0	1	3	0	2	1	1	3	7	3	7	3	5	0	0	3	5	3	0			TCGA-KK-A7AV-01A-11D-A32B-08	TCGA-KK-A7AV-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f3b9e81-6a08-4d69-9cfa-8a6b2debb441	ac932a61-4c1c-4987-96e1-97364aca3e20	g.chr1:144821954C>G	ENST00000440491.2	+	7	897	c.897C>G	c.(895-897)ccC>ccG	p.P299P	NBPF9_ENST00000281815.8_5'UTR|NBPF9_ENST00000468645.1_3'UTR|NBPF9_ENST00000338347.4_Silent_p.P299P	NM_001037675.2	NP_001032764.2	Q3BBW0	NBPF9_HUMAN	neuroblastoma breakpoint family, member 9	557						cytoplasm (GO:0005737)				NS(2)|prostate(1)	3						AGGAAGTCCCCCAGGAGTCCT	0.478																																						ENST00000440491.2																			0				NS(2)|prostate(1)	3						c.(895-897)ccC>ccG		neuroblastoma breakpoint family, member 9																																				SO:0001819	synonymous_variant	400818							g.chr1:144821954C>G		CCDS72895.1, CCDS72896.1	1q21.1	2013-01-17			ENSG00000168614	ENSG00000269713		"neuroblastoma breakpoint family"	31991	protein-coding gene	gene with protein product		613999				16079250	Standard	NM_001037675		Approved	AE01		Q3BBW0	OTTHUMG00000013845	ENST00000440491.2:c.897C>G	1.37:g.144821954C>G						NBPF9_ENST00000281815.8_5'UTR|NBPF9_ENST00000338347.4_Silent_p.P299P|NBPF9_ENST00000468645.1_3'UTR	p.P299P	NM_001037675.2	NP_001032764.1					7	897	+									Silent	SNP	ENST00000440491.2	37	c.897C>G		.	.	.	.	.	.	.	.	.	.	.	2.008	-0.427797	0.04701	.	.	ENSG00000168614	ENST00000375552	T	0.10005	2.92	0.714	-0.496	0.12027	.	.	.	.	.	T	0.01940	0.0061	.	.	.	0.09310	N	0.999998	.	.	.	.	.	.	T	0.47824	-0.9087	5	0.22706	T	0.39	.	.	.	.	.	.	.	.	R	298	ENSP00000364702:P298R	ENSP00000364702:P298R	P	+	2	0	NBPF9	143533311	0.000000	0.05858	0.001000	0.08648	0.171000	0.22731	-0.766000	0.04725	-0.175000	0.10725	0.186000	0.17326	CCC		0.478	NBPF9-203	KNOWN	basic	protein_coding	protein_coding		NM_001037675		19	134	0	0	0	1	0	19	134					G	144821954	C	G	144821954	2	3	323	1	0	0	0	0	0	0	0	1	10199	610	22	5		5	NBPF9	1	144821954	Silent	SNP	C	TCGA-KK-A7AV-01A-11D-A32B-08	41421338	144821954	104428667	4	16530											
OLFML2B	25903	broad.mit.edu	37	chr1	161954024	161954024	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tgtataccacgtggcctgtgCcgatccagctgtacgggagc	7	9	13	12	3	0	0	0	0	0	0	1	2	1	1	4	2	5	3	4	2	3	3			TCGA-KK-A7AV-01A-11D-A32B-08	TCGA-KK-A7AV-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f3b9e81-6a08-4d69-9cfa-8a6b2debb441	ac932a61-4c1c-4987-96e1-97364aca3e20	g.chr1:161954024C>T	ENST00000294794.3	-	8	2117	c.1694G>A	c.(1693-1695)gGc>gAc	p.G565D	OLFML2B_ENST00000367938.1_Missense_Mutation_p.G48D|OLFML2B_ENST00000367940.2_Missense_Mutation_p.G566D	NM_015441.1	NP_056256.1	Q68BL8	OLM2B_HUMAN	olfactomedin-like 2B	565	Olfactomedin-like. {ECO:0000255|PROSITE- ProRule:PRU00446}.				extracellular matrix organization (GO:0030198)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48	all_hematologic(112;0.156)		BRCA - Breast invasive adenocarcinoma(70;0.0172)			GTGGCCTGTGCCGATCCAGCT	0.592																																						ENST00000294794.3																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						c.(1693-1695)gGc>gAc		olfactomedin-like 2B							95	83	87					1																	161954024		2203	4300	6503	SO:0001583	missense	25903							g.chr1:161954024C>T	BX648975	CCDS1236.1, CCDS72966.1	1q23.1	2008-02-05			ENSG00000162745	ENSG00000162745			24558	protein-coding gene	gene with protein product							Standard	XM_005245075		Approved	DKFZP586L151	uc001gbu.3	Q68BL8	OTTHUMG00000024047	ENST00000294794.3:c.1694G>A	1.37:g.161954024C>T	ENSP00000294794:p.Gly565Asp					OLFML2B_ENST00000367940.2_Missense_Mutation_p.G566D|OLFML2B_ENST00000367938.1_Missense_Mutation_p.G48D	p.G565D	NM_015441.1	NP_056256.1	Q68BL8	OLM2B_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.0172)		8	2117	-	all_hematologic(112;0.156)		565			Olfactomedin-like.		B7ZA39|Q5VU96|Q6NX46|Q86X11|Q9Y3X6	Missense_Mutation	SNP	ENST00000294794.3	37	c.1694G>A	CCDS1236.1	.	.	.	.	.	.	.	.	.	.	C	24.9	4.586271	0.86851	.	.	ENSG00000162745	ENST00000294794;ENST00000367940;ENST00000367938	D;D;D	0.95035	-3.59;-3.59;-3.59	5.17	5.17	0.71159	Olfactomedin-like (3);	.	.	.	.	D	0.98021	0.9348	H	0.95712	3.71	0.47123	D	0.999320	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.99267	1.0892	8	0.87932	D	0	.	16.1511	0.81624	0.0:1.0:0.0:0.0	.	566;565	F2Z3N3;Q68BL8	.;OLM2B_HUMAN	D	565;566;48	ENSP00000294794:G565D;ENSP00000356917:G566D;ENSP00000356915:G48D	ENSP00000294794:G565D	G	-	2	0	OLFML2B	160220648	1.000000	0.71417	0.996000	0.52242	0.995000	0.86356	7.677000	0.84024	2.400000	0.81607	0.561000	0.74099	GGC		0.592	OLFML2B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000060552.2	NM_015441		3	51	0	0	0	1	0	3	51					T	161954024	C	T	161954024	3	4	323	1	0	0	0	0	1	0	0	0	10858	739	26	3	562	3	OLFML2B	1	161954024	Missense_Mutation	SNP	C	TCGA-KK-A7AV-01A-11D-A32B-08	17132070	161954024	87296597	5	16531											
LYST	1130	broad.mit.edu	37	chr1	235973754	235973754	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggcacttccttctaaatgtaAtttttcctgagtggatcttt	8	18	7	8	0	2	1	0	1	2	0	4	2	4	2	2	2	0	2	2	2	3	7			TCGA-KK-A7AV-01A-11D-A32B-08	TCGA-KK-A7AV-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f3b9e81-6a08-4d69-9cfa-8a6b2debb441	ac932a61-4c1c-4987-96e1-97364aca3e20	g.chr1:235973754A>T	ENST00000389794.3	-	5	538	c.364T>A	c.(364-366)Tta>Ata	p.L122I	LYST_ENST00000536965.1_Missense_Mutation_p.L122I|LYST_ENST00000389793.2_Missense_Mutation_p.L122I			Q99698	LYST_HUMAN	lysosomal trafficking regulator	122					blood coagulation (GO:0007596)|defense response to bacterium (GO:0042742)|defense response to protozoan (GO:0042832)|defense response to virus (GO:0051607)|endosome to lysosome transport via multivesicular body sorting pathway (GO:0032510)|leukocyte chemotaxis (GO:0030595)|lysosome organization (GO:0007040)|mast cell secretory granule organization (GO:0033364)|melanosome organization (GO:0032438)|microtubule-based process (GO:0007017)|natural killer cell mediated cytotoxicity (GO:0042267)|neutrophil mediated immunity (GO:0002446)|phospholipid homeostasis (GO:0055091)|phospholipid metabolic process (GO:0006644)|pigmentation (GO:0043473)|positive regulation of natural killer cell activation (GO:0032816)|response to drug (GO:0042493)|secretion of lysosomal enzymes (GO:0033299)|T cell mediated immunity (GO:0002456)	cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)				NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			TCTAAATGTAATTTTTCCTGA	0.368																																						ENST00000389794.3																			0				NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162						c.(364-366)Tta>Ata		lysosomal trafficking regulator							64	67	66					1																	235973754		2203	4300	6503	SO:0001583	missense	1130				defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding	g.chr1:235973754A>T	U70064	CCDS31062.1	1q42.1-q42.2	2014-09-17	2004-12-09	2004-12-10	ENSG00000143669	ENSG00000143669		"WD repeat domain containing"	1968	protein-coding gene	gene with protein product		606897	"Chediak-Higashi syndrome 1"	CHS1		8717042, 8896560	Standard	NM_000081		Approved	CHS	uc001hxj.3	Q99698	OTTHUMG00000040527	ENST00000389794.3:c.364T>A	1.37:g.235973754A>T	ENSP00000374444:p.Leu122Ile					LYST_ENST00000536965.1_Missense_Mutation_p.L122I|LYST_ENST00000389793.2_Missense_Mutation_p.L122I	p.L122I			Q99698	LYST_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.000674)		5	538	-	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	122					O43274|Q5T2U9|Q96TD7|Q96TD8|Q99709|Q9H133	Missense_Mutation	SNP	ENST00000389794.3	37	c.364T>A	CCDS31062.1	.	.	.	.	.	.	.	.	.	.	A	7.564	0.665242	0.14710	.	.	ENSG00000143669	ENST00000389794;ENST00000389793;ENST00000536965	T;T;T	0.14144	2.53;2.53;2.53	5.8	0.71	0.18157	.	0.820902	0.11112	N	0.598400	T	0.09555	0.0235	L	0.44542	1.39	0.09310	N	1	P;B	0.43352	0.804;0.083	B;B	0.39706	0.307;0.02	T	0.21827	-1.0234	10	0.35671	T	0.21	.	0.9485	0.01371	0.4393:0.2214:0.1366:0.2027	.	122;122	Q99698-3;Q99698	.;LYST_HUMAN	I	122	ENSP00000374444:L122I;ENSP00000374443:L122I;ENSP00000438315:L122I	ENSP00000374443:L122I	L	-	1	2	LYST	234040377	0.030000	0.19436	0.998000	0.56505	0.983000	0.72400	0.618000	0.24373	0.466000	0.27193	0.460000	0.39030	TTA		0.368	LYST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097533.5			28	61	0	0	0	1	0	28	61					T	235973754	A	T	235973754	3	4	323	1	0	0	0	0	1	0	0	0	9128	98	4	5	11237	5	LYST	1	235973754	Missense_Mutation	SNP	A	TCGA-KK-A7AV-01A-11D-A32B-08	74019730	235973754	13276867	6	16532											
PLXNB1	5364	broad.mit.edu	37	chr3	48463187	48463187	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ccactgctctgggccctggcCcctcgagcactcagaacggc	6	6	11	18	2	2	1	1	0	1	1	3	2	2	1	4	3	3	2	4	3	1	0			TCGA-KK-A7AV-01A-11D-A32B-08	TCGA-KK-A7AV-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f3b9e81-6a08-4d69-9cfa-8a6b2debb441	ac932a61-4c1c-4987-96e1-97364aca3e20	g.chr3:48463187C>A	ENST00000358536.4	-	7	1818	c.1549G>T	c.(1549-1551)Ggc>Tgc	p.G517C	PLXNB1_ENST00000296440.6_Missense_Mutation_p.G517C|PLXNB1_ENST00000448774.2_Intron|PLXNB1_ENST00000358459.4_Missense_Mutation_p.G517C|PLXNB1_ENST00000456774.1_Missense_Mutation_p.G517C	NM_002673.4	NP_002664.2	O43157	PLXB1_HUMAN	plexin B1	517					axon guidance (GO:0007411)|cell migration (GO:0016477)|intracellular signal transduction (GO:0035556)|negative regulation of cell adhesion (GO:0007162)|negative regulation of osteoblast proliferation (GO:0033689)|neuron projection morphogenesis (GO:0048812)|ossification involved in bone maturation (GO:0043931)|positive regulation of axonogenesis (GO:0050772)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell shape (GO:0008360)|regulation of cytoskeleton organization (GO:0051493)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in bone trabecula morphogenesis (GO:1900220)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	GTPase activating protein binding (GO:0032794)|receptor activity (GO:0004872)|semaphorin receptor activity (GO:0017154)|semaphorin receptor binding (GO:0030215)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		GGGCCCTGGCCCCTCGAGCAC	0.612																																						ENST00000358536.4																			0				NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47						c.(1549-1551)Ggc>Tgc		plexin B1							49	49	49					3																	48463187		2203	4300	6503	SO:0001583	missense	5364				axon guidance|cell migration|intracellular signal transduction|regulation of cell shape|regulation of cytoskeleton organization|regulation of small GTPase mediated signal transduction|semaphorin-plexin signaling pathway	extracellular region|integral to plasma membrane|intracellular|semaphorin receptor complex	GTPase activator activity|semaphorin receptor activity|semaphorin receptor binding	g.chr3:48463187C>A	X87904	CCDS2765.1	3p21.31	2008-07-18			ENSG00000164050	ENSG00000164050		"Plexins"	9103	protein-coding gene	gene with protein product		601053		PLXN5		8570614, 11035813	Standard	XM_005265234		Approved	SEP, KIAA0407	uc003csw.2	O43157	OTTHUMG00000133527	ENST00000358536.4:c.1549G>T	3.37:g.48463187C>A	ENSP00000351338:p.Gly517Cys					PLXNB1_ENST00000448774.2_Intron|PLXNB1_ENST00000358459.4_Missense_Mutation_p.G517C|PLXNB1_ENST00000456774.1_Missense_Mutation_p.G517C|PLXNB1_ENST00000296440.6_Missense_Mutation_p.G517C	p.G517C	NM_002673.4	NP_002664.2	O43157	PLXB1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)	7	1818	-			517					A6H8Y2|Q6NY20|Q9UIV7|Q9UJ92|Q9UJ93	Missense_Mutation	SNP	ENST00000358536.4	37	c.1549G>T	CCDS2765.1	.	.	.	.	.	.	.	.	.	.	C	24.1	4.493936	0.84962	.	.	ENSG00000164050	ENST00000296440;ENST00000358459;ENST00000358536;ENST00000456774	T;T;T;T	0.18174	2.23;2.23;2.23;2.23	5.62	3.84	0.44239	.	0.485971	0.22272	N	0.062253	T	0.34832	0.0911	L	0.56769	1.78	0.80722	D	1	D;D	0.76494	0.98;0.999	P;D	0.71414	0.88;0.973	T	0.02860	-1.1101	10	0.62326	D	0.03	.	10.9572	0.47364	0.0:0.8506:0.0:0.1494	.	517;517	O43157;O43157-2	PLXB1_HUMAN;.	C	517	ENSP00000296440:G517C;ENSP00000351242:G517C;ENSP00000351338:G517C;ENSP00000414199:G517C	ENSP00000296440:G517C	G	-	1	0	PLXNB1	48438191	0.947000	0.32204	0.993000	0.49108	0.950000	0.60333	2.489000	0.45285	0.747000	0.32809	0.655000	0.94253	GGC		0.612	PLXNB1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344454.1	NM_002673		3	28	1	0	0.00024832	1	0.000297984	3	28					A	48463187	C	A	48463187	3	1	323	1	0	0	0	0	1	0	0	0	12123	623	22	5	4986	5	PLXNB1	3	48463187	Missense_Mutation	SNP	C	TCGA-KK-A7AV-01A-11D-A32B-08		48463187	149559243	7	16533											
PAQR9	344838	broad.mit.edu	37	chr3	142681313	142681313	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggatcttgctcacgttgaagAaggcggccaccaccagccag	10	6	12	13	2	2	2	1	1	1	1	2	3	2	3	4	3	2	2	4	3	2	2			TCGA-KK-A7AV-01A-11D-A32B-08	TCGA-KK-A7AV-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f3b9e81-6a08-4d69-9cfa-8a6b2debb441	ac932a61-4c1c-4987-96e1-97364aca3e20	g.chr3:142681313A>C	ENST00000340634.3	-	1	865	c.866T>G	c.(865-867)tTc>tGc	p.F289C	RP11-372E1.6_ENST00000607937.1_RNA|RP11-372E1.6_ENST00000598139.1_RNA|RP11-372E1.6_ENST00000595248.1_RNA|RP11-372E1.6_ENST00000608349.1_RNA|RP11-372E1.6_ENST00000478823.1_RNA|RP11-372E1.6_ENST00000593321.1_RNA|RP11-372E1.6_ENST00000595774.1_RNA|RP11-372E1.6_ENST00000594095.1_RNA|RP11-372E1.6_ENST00000598787.1_RNA|RP11-372E1.6_ENST00000493825.1_RNA|RP11-372E1.6_ENST00000608686.1_RNA|RP11-372E1.6_ENST00000497652.1_RNA	NM_198504.2	NP_940906.1	Q6ZVX9	PAQR9_HUMAN	progestin and adipoQ receptor family member IX	289						integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			endometrium(2)|large_intestine(7)|lung(12)|prostate(1)	22						CACGTTGAAGAAGGCGGCCAC	0.587																																						ENST00000340634.3																			0				endometrium(2)|large_intestine(7)|lung(12)|prostate(1)	22						c.(865-867)tTc>tGc		progestin and adipoQ receptor family member IX							58	60	59					3																	142681313		2203	4300	6503	SO:0001583	missense	344838					integral to membrane	receptor activity	g.chr3:142681313A>C	AY424287	CCDS3128.1	3q23	2008-05-02			ENSG00000188582	ENSG00000188582			30131	protein-coding gene	gene with protein product		614580					Standard	NM_198504		Approved	FLJ41938	uc003evg.3	Q6ZVX9	OTTHUMG00000159313	ENST00000340634.3:c.866T>G	3.37:g.142681313A>C	ENSP00000341564:p.Phe289Cys						p.F289C	NM_198504.2	NP_940906.1	Q6ZVX9	PAQR9_HUMAN			1	865	-			289					Q147T6	Missense_Mutation	SNP	ENST00000340634.3	37	c.866T>G	CCDS3128.1	.	.	.	.	.	.	.	.	.	.	A	21.2	4.119695	0.77323	.	.	ENSG00000188582	ENST00000340634	T	0.31510	1.49	5.63	5.63	0.86233	.	0.152878	0.46145	D	0.000320	T	0.57460	0.2055	M	0.77103	2.36	0.45946	D	0.998776	D	0.89917	1.0	D	0.77557	0.99	T	0.60860	-0.7179	10	0.54805	T	0.06	-27.1099	15.87	0.79108	1.0:0.0:0.0:0.0	.	289	Q6ZVX9	PAQR9_HUMAN	C	289	ENSP00000341564:F289C	ENSP00000341564:F289C	F	-	2	0	PAQR9	144164003	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.424000	0.80242	2.145000	0.66743	0.533000	0.62120	TTC		0.587	PAQR9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354538.1	NM_198504		7	45	0	0	0	1	0	7	45					C	142681313	A	C	142681313	3	2	323	1	0	0	0	0	1	0	0	0	11442	246	9	5	271	5	PAQR9	3	142681313	Missense_Mutation	SNP	A	TCGA-KK-A7AV-01A-11D-A32B-08	94218126	142681313	55341117	8	16534											
GPR125	166647	broad.mit.edu	37	chr4	22415404	22415404	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	ctttggtgagaaaagggaagGaggaagctgaatagaagcct	15	7	15	4	0	0	3	0	2	0	2	0	7	0	6	1	4	2	1	1	4	7	2			TCGA-KK-A7AV-01A-11D-A32B-08	TCGA-KK-A7AV-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f3b9e81-6a08-4d69-9cfa-8a6b2debb441	ac932a61-4c1c-4987-96e1-97364aca3e20	g.chr4:22415404G>C	ENST00000334304.5	-	13	2112	c.1843C>G	c.(1843-1845)Cct>Gct	p.P615A	GPR125_ENST00000282943.5_Intron	NM_145290.3	NP_660333.2	Q8IWK6	GP125_HUMAN	G protein-coupled receptor 125	615					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)	G-protein coupled receptor activity (GO:0004930)			breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(33)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	56		Breast(46;0.198)				AAAAGGGAAGGAGGAAGCTGA	0.348																																						ENST00000334304.5																			0				breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(33)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	56						c.(1843-1845)Cct>Gct		G protein-coupled receptor 125							61	62	62					4																	22415404		2203	4300	6503	SO:0001583	missense	166647				neuropeptide signaling pathway	integral to membrane	G-protein coupled receptor activity	g.chr4:22415404G>C	AK095866	CCDS33964.1	4p15.31	2014-08-08			ENSG00000152990	ENSG00000152990		"-", "GPCR / Class B : Orphans", "Immunoglobulin superfamily / I-set domain containing"	13839	protein-coding gene	gene with protein product		612303				12565841	Standard	NM_145290		Approved	FLJ38547, PGR21	uc003gqm.2	Q8IWK6	OTTHUMG00000160926	ENST00000334304.5:c.1843C>G	4.37:g.22415404G>C	ENSP00000334952:p.Pro615Ala					GPR125_ENST00000282943.5_Intron	p.P615A	NM_145290.2	NP_660333.2	Q8IWK6	GP125_HUMAN			13	2112	-		Breast(46;0.198)	615					Q6UXK9|Q86SQ5|Q8TC55	Missense_Mutation	SNP	ENST00000334304.5	37	c.1843C>G	CCDS33964.1	.	.	.	.	.	.	.	.	.	.	G	11.93	1.786273	0.31593	.	.	ENSG00000152990	ENST00000334304	T	0.53206	0.63	5.82	3.1	0.35709	.	0.441295	0.27482	N	0.019166	T	0.26774	0.0655	N	0.20483	0.58	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.05305	-1.0893	10	0.17369	T	0.5	-35.6758	6.2048	0.20595	0.2166:0.268:0.5153:0.0	.	615	Q8IWK6	GP125_HUMAN	A	615	ENSP00000334952:P615A	ENSP00000334952:P615A	P	-	1	0	GPR125	22024502	0.930000	0.31532	0.490000	0.27465	0.996000	0.88848	1.485000	0.35519	0.343000	0.23821	0.650000	0.86243	CCT		0.348	GPR125-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362960.3			11	41	0	0	0	1	0	11	41					C	22415404	G	C	22415404	3	2	323	1	0	0	0	0	1	0	0	0	6639	1174	41	5	2150	5	GPR125	4	22415404	Missense_Mutation	SNP	G	TCGA-KK-A7AV-01A-11D-A32B-08		22415404	168738872	9	16535											
FOXD1	2297	broad.mit.edu	37	chr5	72743456	72743456	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gggtcgcccgcgccccctgcGgctcccgcgccgcgcagcag	2	3	15	21	8	0	0	0	0	0	0	2	0	1	0	5	2	2	3	5	2	0	0			TCGA-KK-A7AV-01A-11D-A32B-08	TCGA-KK-A7AV-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f3b9e81-6a08-4d69-9cfa-8a6b2debb441	ac932a61-4c1c-4987-96e1-97364aca3e20	g.chr5:72743456G>T	ENST00000499003.3	-	1	896	c.732C>A	c.(730-732)gcC>gcA	p.A244A	RP11-79P5.2_ENST00000514661.1_lincRNA|FOXD1_ENST00000513595.1_5'Flank	NM_004472.2	NP_004463.1	Q16676	FOXD1_HUMAN	forkhead box D1	244					axon guidance (GO:0007411)|dichotomous subdivision of terminal units involved in ureteric bud branching (GO:0060678)|metanephric capsule development (GO:0072213)|metanephric capsule specification (GO:0072267)|metanephric nephron development (GO:0072210)|negative regulation of transcription, DNA-templated (GO:0045892)|nephrogenic mesenchyme development (GO:0072076)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of gene expression (GO:0010628)|positive regulation of kidney development (GO:0090184)	nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA binding, bending (GO:0008301)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|kidney(1)|lung(2)	4		Lung NSC(167;0.00327)|Ovarian(174;0.0175)|Prostate(461;0.151)		OV - Ovarian serous cystadenocarcinoma(47;1.07e-54)		cgccccctgcggctcccgcgc	0.796																																						ENST00000499003.3																			0				endometrium(1)|kidney(1)|lung(2)	4						c.(730-732)gcC>gcA		forkhead box D1							2	3	3					5																	72743456		1063	2498	3561	SO:0001819	synonymous_variant	2297				axon extension involved in axon guidance|cartilage development|dichotomous subdivision of terminal units involved in ureteric bud branching|embryo development|enteric nervous system development|iridophore differentiation|lateral line nerve glial cell development|melanocyte differentiation|metanephric capsule specification|negative regulation of transcription, DNA-dependent|neural crest cell migration|peripheral nervous system development|positive regulation of BMP signaling pathway|positive regulation of kidney development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chr5:72743456G>T	U59831	CCDS75259.1	5q13.2	2014-06-04			ENSG00000251493	ENSG00000251493		"Forkhead boxes"	3802	protein-coding gene	gene with protein product		601091		FKHL8		7957066, 8825632	Standard	NM_004472		Approved	FREAC4	uc003kcp.3	Q16676	OTTHUMG00000162495	ENST00000499003.3:c.732C>A	5.37:g.72743456G>T							p.A244A	NM_004472.2	NP_004463.1	Q16676	FOXD1_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;1.07e-54)	1	896	-		Lung NSC(167;0.00327)|Ovarian(174;0.0175)|Prostate(461;0.151)	244					Q12949	Silent	SNP	ENST00000499003.3	37	c.732C>A																																																																																					0.796	FOXD1-001	KNOWN	sequence_error|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000369154.2	NM_004472		2	1	1	0	0.0016	1	0.00174545	2	1					T	72743456	G	T	72743456	2	4	323	1	0	0	0	0	0	0	0	1	5996	1103	39	5		5	FOXD1	5	72743456	Silent	SNP	G	TCGA-KK-A7AV-01A-11D-A32B-08		72743456	108171804	10	16536											
PCDHB1	29930	broad.mit.edu	37	chr5	140432292	140432292	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ctgacagaagcttggatcggGaggaggtctcaggctataat	11	9	14	7	1	1	2	1	1	1	1	3	5	1	5	0	5	1	2	0	5	3	3			TCGA-KK-A7AV-01A-11D-A32B-08	TCGA-KK-A7AV-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f3b9e81-6a08-4d69-9cfa-8a6b2debb441	ac932a61-4c1c-4987-96e1-97364aca3e20	g.chr5:140432292G>T	ENST00000306549.3	+	1	1314	c.1237G>T	c.(1237-1239)Gag>Tag	p.E413*		NM_013340.2	NP_037472.2	Q9Y5F3	PCDB1_HUMAN	protocadherin beta 1	413	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|liver(1)|lung(13)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	53			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CTTGGATCGGGAGGAGGTCTC	0.458																																						ENST00000306549.3																			0				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|liver(1)|lung(13)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	53						c.(1237-1239)Gag>Tag									102	100	101					5																	140432292		2203	4300	6503	SO:0001587	stop_gained	0				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140432292G>T	AF152488	CCDS4243.1	5q31	2010-01-26			ENSG00000171815	ENSG00000171815		"Cadherins / Protocadherins : Clustered"	8680	other	protocadherin		606327				10380929	Standard	NM_013340		Approved	PCDH-BETA1	uc003lik.1	Q9Y5F3	OTTHUMG00000129627	ENST00000306549.3:c.1237G>T	5.37:g.140432292G>T	ENSP00000307234:p.Glu413*						p.E413*	NM_013340.2	NP_037472.2	Q9Y5F3	PCDB1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1314	+			413			Cadherin 4.		Q2M257	Nonsense_Mutation	SNP	ENST00000306549.3	37	c.1237G>T	CCDS4243.1	.	.	.	.	.	.	.	.	.	.	G	36	5.888550	0.97068	.	.	ENSG00000171815	ENST00000306549	.	.	.	6.03	6.03	0.97812	.	0.000000	0.48286	D	0.000199	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	20.177	0.98182	0.0:0.0:1.0:0.0	.	.	.	.	X	413	.	ENSP00000307234:E413X	E	+	1	0	PCDHB1	140412476	1.000000	0.71417	0.977000	0.42913	0.996000	0.88848	9.768000	0.98965	2.854000	0.98071	0.655000	0.94253	GAG		0.458	PCDHB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251822.2	NM_013340		29	104	1	0	8.88839e-20	1	1.2307e-19	29	104					T	140432292	G	T	140432292	4	4	323	1	0	0	0	0	0	1	0	0	11534	1175	41	5	1239	5	PCDHB1	5	140432292	Nonsense_Mutation	SNP	G	TCGA-KK-A7AV-01A-11D-A32B-08	67688836	140432292	40482968	11	16537											
FIG4	9896	broad.mit.edu	37	chr6	110086256	110086256	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgtgtggactgtttagatcGcaccaacacagcacagttta	11	11	9	10	1	0	1	0	0	0	1	1	2	0	2	1	1	2	4	1	1	3	4			TCGA-KK-A7AV-01A-11D-A32B-08	TCGA-KK-A7AV-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f3b9e81-6a08-4d69-9cfa-8a6b2debb441	ac932a61-4c1c-4987-96e1-97364aca3e20	g.chr6:110086256G>A	ENST00000230124.3	+	14	1599	c.1475G>A	c.(1474-1476)cGc>cAc	p.R492H	FIG4_ENST00000441478.2_Missense_Mutation_p.R215H	NM_014845.5	NP_055660.1	Q92562	FIG4_HUMAN	FIG4 phosphoinositide 5-phosphatase	492	SAC. {ECO:0000255|PROSITE- ProRule:PRU00183}.				cell death (GO:0008219)|locomotory behavior (GO:0007626)|myelin assembly (GO:0032288)|negative regulation of myelination (GO:0031642)|neuron development (GO:0048666)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phospholipid metabolic process (GO:0006644)|pigmentation (GO:0043473)|positive regulation of neuron projection development (GO:0010976)|small molecule metabolic process (GO:0044281)|vacuole organization (GO:0007033)	early endosome membrane (GO:0031901)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|late endosome membrane (GO:0031902)	phosphatidylinositol-3,5-bisphosphate 5-phosphatase activity (GO:0043813)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphatidylinositol-4-phosphate phosphatase activity (GO:0043812)			central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)	32		all_cancers(87;8.63e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000124)|all_lung(197;0.0187)|Colorectal(196;0.0492)|Lung SC(18;0.0548)		OV - Ovarian serous cystadenocarcinoma(136;0.0355)|Epithelial(106;0.038)|all cancers(137;0.0425)|BRCA - Breast invasive adenocarcinoma(108;0.079)		TGTTTAGATCGCACCAACACA	0.403																																						ENST00000230124.3																			0				central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)	32						c.(1474-1476)cGc>cAc		FIG4 homolog, SAC1 lipid phosphatase domain containing (S. cerevisiae)							161	146	151					6																	110086256		2203	4300	6503	SO:0001583	missense	9896				cell death	endosome membrane	protein binding	g.chr6:110086256G>A	D87464	CCDS5078.1	6q21	2014-09-17	2014-08-04	2007-07-30	ENSG00000112367	ENSG00000112367			16873	protein-coding gene	gene with protein product		609390	"KIAA0274", "FIG4 homolog (S. cerevisiae)", "FIG4 homolog, SAC1 lipid phosphatase domain containing (S. cerevisiae)"	KIAA0274		9039502, 11274189, 17572665	Standard	NM_014845		Approved	SAC3, hSac3, dJ249I4.1, ALS11, CMT4J	uc003ptt.2	Q92562	OTTHUMG00000015352	ENST00000230124.3:c.1475G>A	6.37:g.110086256G>A	ENSP00000230124:p.Arg492His					FIG4_ENST00000441478.2_Missense_Mutation_p.R215H	p.R492H	NM_014845.5	NP_055660.1	Q92562	FIG4_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.0355)|Epithelial(106;0.038)|all cancers(137;0.0425)|BRCA - Breast invasive adenocarcinoma(108;0.079)	14	1599	+		all_cancers(87;8.63e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000124)|all_lung(197;0.0187)|Colorectal(196;0.0492)|Lung SC(18;0.0548)	492			SAC.		Q53H49|Q5TCS6	Missense_Mutation	SNP	ENST00000230124.3	37	c.1475G>A	CCDS5078.1	.	.	.	.	.	.	.	.	.	.	G	33	5.251635	0.95305	.	.	ENSG00000112367	ENST00000441478;ENST00000230124	T;D	0.83163	-0.66;-1.69	5.2	5.2	0.72013	Synaptojanin, N-terminal (1);	0.060695	0.64402	D	0.000002	D	0.94016	0.8083	H	0.97516	4.02	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.87578	0.911;0.998	D	0.95955	0.8957	10	0.87932	D	0	-12.8121	16.9196	0.86160	0.0:0.0:1.0:0.0	.	215;492	F5H8L9;Q92562	.;FIG4_HUMAN	H	215;492	ENSP00000399443:R215H;ENSP00000230124:R492H	ENSP00000230124:R492H	R	+	2	0	FIG4	110192949	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.471000	0.97696	2.416000	0.81992	0.557000	0.71058	CGC		0.403	FIG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041768.1	NM_014845		4	62	0	0	0	1	0	4	62					A	110086256	G	A	110086256	3	1	323	1	0	0	0	0	1	0	0	0	5888	1087	38	1	1529	1	FIG4	6	110086256	Missense_Mutation	SNP	G	TCGA-KK-A7AV-01A-11D-A32B-08		110086256	61028811	12	16538											
MAGI2	9863	broad.mit.edu	37	chr7	79082567	79082567	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	aaagcccagctggccctccgGgttcctgccaatgacactct	8	8	9	16	1	1	1	0	1	1	0	3	1	3	1	5	2	3	2	5	2	2	1			TCGA-KK-A7AV-01A-11D-A32B-08	TCGA-KK-A7AV-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f3b9e81-6a08-4d69-9cfa-8a6b2debb441	ac932a61-4c1c-4987-96e1-97364aca3e20	g.chr7:79082567G>T	ENST00000354212.4	-	1	323	c.70C>A	c.(70-72)Ccg>Acg	p.P24T	MAGI2-AS3_ENST00000424477.1_RNA|MAGI2-AS3_ENST00000446159.1_RNA|MAGI2-AS3_ENST00000414797.1_RNA|MAGI2-AS3_ENST00000451809.1_RNA|MAGI2-AS3_ENST00000448195.1_RNA|MAGI2-AS3_ENST00000422093.1_RNA|MAGI2-AS3_ENST00000429408.1_RNA|MAGI2_ENST00000522391.1_Missense_Mutation_p.P24T|MAGI2-AS3_ENST00000426835.1_RNA|MAGI2_ENST00000419488.1_Missense_Mutation_p.P24T	NM_012301.3	NP_036433.2	Q86UL8	MAGI2_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 2	24	PDZ 1. {ECO:0000255|PROSITE- ProRule:PRU00143}.				cellular response to nerve growth factor stimulus (GO:1990090)|cytoplasmic transport (GO:0016482)|glomerular visceral epithelial cell development (GO:0072015)|mitotic cell cycle arrest (GO:0071850)|negative regulation of activin receptor signaling pathway (GO:0032926)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein kinase B signaling (GO:0051898)|nerve growth factor signaling pathway (GO:0038180)|planar cell polarity pathway involved in axis elongation (GO:0003402)|positive regulation of neuron projection development (GO:0010976)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of receptor internalization (GO:0002092)|protein heterooligomerization (GO:0051291)|receptor clustering (GO:0043113)|SMAD protein signal transduction (GO:0060395)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|late endosome (GO:0005770)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|protein complex (GO:0043234)|slit diaphragm (GO:0036057)|synapse (GO:0045202)|tight junction (GO:0005923)	beta-1 adrenergic receptor binding (GO:0031697)|phosphatase binding (GO:0019902)|receptor signaling complex scaffold activity (GO:0030159)|signal transducer activity (GO:0004871)|SMAD binding (GO:0046332)|type II activin receptor binding (GO:0070699)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				TGGCCCTCCGGGTTCCTGCCA	0.592																																						ENST00000354212.4																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84						c.(70-72)Ccg>Acg		membrane associated guanylate kinase, WW and PDZ domain containing 2							71	86	81					7																	79082567		2203	4300	6503	SO:0001583	missense	9863					cell junction|synapse|synaptosome	phosphatase binding	g.chr7:79082567G>T	AB014605	CCDS5594.1, CCDS75623.1	7q21	2005-08-09			ENSG00000187391	ENSG00000187391			18957	protein-coding gene	gene with protein product		606382				10681527, 9734811	Standard	XM_005250725		Approved	AIP1, ARIP1, KIAA0705, ACVRIP1, MAGI-2	uc003ugx.3	Q86UL8	OTTHUMG00000130697	ENST00000354212.4:c.70C>A	7.37:g.79082567G>T	ENSP00000346151:p.Pro24Thr					MAGI2-AS3_ENST00000446159.1_RNA|MAGI2-AS3_ENST00000426835.1_RNA|MAGI2_ENST00000522391.1_Missense_Mutation_p.P24T|MAGI2_ENST00000419488.1_Missense_Mutation_p.P24T|MAGI2-AS3_ENST00000429408.1_RNA	p.P24T	NM_012301.3	NP_036433.2	Q86UL8	MAGI2_HUMAN			1	323	-		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)	24			PDZ 1.		A4D1C1|A7E2C3|O60434|O60510|Q86UI7|Q9NP44|Q9UDQ5|Q9UDU1	Missense_Mutation	SNP	ENST00000354212.4	37	c.70C>A	CCDS5594.1	.	.	.	.	.	.	.	.	.	.	G	15.64	2.894227	0.52121	.	.	ENSG00000187391	ENST00000419488;ENST00000354212;ENST00000536298;ENST00000522391	T;T;T	0.25912	1.77;1.77;1.77	5.17	5.17	0.71159	PDZ/DHR/GLGF (3);	.	.	.	.	T	0.20861	0.0502	N	0.22421	0.69	0.80722	D	1	B;B	0.30824	0.296;0.077	B;B	0.28139	0.048;0.086	T	0.05920	-1.0856	9	0.66056	D	0.02	.	17.6371	0.88125	0.0:0.0:1.0:0.0	.	24;24	Q86UL8-2;Q86UL8	.;MAGI2_HUMAN	T	24	ENSP00000405766:P24T;ENSP00000346151:P24T;ENSP00000428389:P24T	ENSP00000346151:P24T	P	-	1	0	MAGI2	78920503	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.963000	0.56773	2.400000	0.81607	0.491000	0.48974	CCG		0.592	MAGI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253197.3	NM_012301		4	122	1	0	0.00024832	1	0.000297984	4	122					T	79082567	G	T	79082567	3	4	323	1	0	0	0	0	1	0	0	0	9191	1232	43	5	4385	5	MAGI2	7	79082567	Missense_Mutation	SNP	G	TCGA-KK-A7AV-01A-11D-A32B-08		79082567	80056096	13	16539											
SND1	27044	broad.mit.edu	37	chr7	127343360	127343360	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gccacaaccagaacattctgGgtaccatccttcatccagtg	11	9	7	14	0	2	1	1	0	1	1	4	1	4	1	5	1	3	1	5	1	3	3			TCGA-KK-A7AV-01A-11D-A32B-08	TCGA-KK-A7AV-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f3b9e81-6a08-4d69-9cfa-8a6b2debb441	ac932a61-4c1c-4987-96e1-97364aca3e20	g.chr7:127343360G>T	ENST00000354725.3	+	7	1017	c.823G>T	c.(823-825)Ggt>Tgt	p.G275C		NM_014390.2	NP_055205.2	Q7KZF4	SND1_HUMAN	staphylococcal nuclease and tudor domain containing 1	275	TNase-like 2. {ECO:0000255|PROSITE- ProRule:PRU00272}.				gene silencing by RNA (GO:0031047)|osteoblast differentiation (GO:0001649)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|dense body (GO:0097433)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|RISC complex (GO:0016442)	nuclease activity (GO:0004518)|poly(A) RNA binding (GO:0044822)|transcription cofactor activity (GO:0003712)			central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	41						GAACATTCTGGGTACCATCCT	0.488																																						ENST00000354725.3																			0				central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	41						c.(823-825)Ggt>Tgt		staphylococcal nuclease and tudor domain containing 1							73	66	69					7																	127343360		2203	4300	6503	SO:0001583	missense	27044				gene silencing by RNA|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	melanosome|nucleus|RNA-induced silencing complex	nuclease activity|nucleic acid binding|protein binding|transcription cofactor activity	g.chr7:127343360G>T		CCDS34747.1	7q31.3	2014-03-24			ENSG00000197157	ENSG00000197157		"Tudor domain containing"	30646	protein-coding gene	gene with protein product	"p100 EBNA2 co-activator", "Tudor-SN"	602181				7651391, 9003410, 12819296	Standard	NM_014390		Approved	TDRD11, p100	uc003vmi.3	Q7KZF4	OTTHUMG00000157560	ENST00000354725.3:c.823G>T	7.37:g.127343360G>T	ENSP00000346762:p.Gly275Cys						p.G275C	NM_014390.2	NP_055205.2	Q7KZF4	SND1_HUMAN			7	1017	+			275			TNase-like 2.		Q13122|Q96AG0	Missense_Mutation	SNP	ENST00000354725.3	37	c.823G>T	CCDS34747.1	.	.	.	.	.	.	.	.	.	.	G	31	5.065047	0.93898	.	.	ENSG00000197157	ENST00000354725;ENST00000438400	T	0.34667	1.35	6.07	6.07	0.98685	Staphylococcal nuclease (SNase-like) (4);Staphylococcal nuclease (SNase-like), OB-fold (1);	0.045277	0.85682	D	0.000000	T	0.67933	0.2946	M	0.88704	2.975	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.71341	-0.4622	10	0.59425	D	0.04	-14.8565	18.1531	0.89682	0.0:0.0:1.0:0.0	.	275	Q7KZF4	SND1_HUMAN	C	275;265	ENSP00000346762:G275C	ENSP00000346762:G275C	G	+	1	0	SND1	127130596	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.523000	0.98034	2.885000	0.99019	0.655000	0.94253	GGT		0.488	SND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349148.1	NM_014390		7	35	1	0	0.000274275	1	0.000318513	7	35					T	127343360	G	T	127343360	3	4	323	1	0	0	0	0	1	0	0	0	14844	1232	43	5	849	5	SND1	7	127343360	Missense_Mutation	SNP	G	TCGA-KK-A7AV-01A-11D-A32B-08	48260793	127343360	31795303	14	16540											
FAM135B	51059	broad.mit.edu	37	chr8	139144959	139144959	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtgttgggcagggcgtggaaCacgttgtgtcggattaaagt	8	11	17	5	3	0	0	0	0	0	0	1	2	0	2	0	4	1	3	0	4	3	3			TCGA-KK-A7AV-01A-11D-A32B-08	TCGA-KK-A7AV-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f3b9e81-6a08-4d69-9cfa-8a6b2debb441	ac932a61-4c1c-4987-96e1-97364aca3e20	g.chr8:139144959C>A	ENST00000395297.1	-	20	4268	c.4098G>T	c.(4096-4098)gtG>gtT	p.V1366V		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	1366										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			GGGCGTGGAACACGTTGTGTC	0.532										HNSCC(54;0.14)																												ENST00000395297.1																			0				NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238						c.(4096-4098)gtG>gtT		family with sequence similarity 135, member B							250	258	256					8																	139144959		1986	4167	6153	SO:0001819	synonymous_variant	51059							g.chr8:139144959C>A	AB196635	CCDS6375.2	8q24.23	2008-11-05			ENSG00000147724	ENSG00000147724			28029	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_015912		Approved	C8ORFK32	uc003yuy.3	Q49AJ0	OTTHUMG00000149864	ENST00000395297.1:c.4098G>T	8.37:g.139144959C>A		HNSCC(54;0.14)					p.V1366V	NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0805)		20	4268	-	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		1366					B5MDB3|O95879|Q2WGJ7|Q3KP46	Silent	SNP	ENST00000395297.1	37	c.4098G>T	CCDS6375.2																																																																																				0.532	FAM135B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313590.3	NM_015912		9	275	1	0	1.61879e-10	1	2.15839e-10	9	275					A	139144959	C	A	139144959	2	1	323	1	0	0	0	0	0	0	0	1	5449	465	17	5		5	FAM135B	8	139144959	Silent	SNP	C	TCGA-KK-A7AV-01A-11D-A32B-08		139144959	7219063	15	16541											
ARC	23237	broad.mit.edu	37	chr8	143694682	143694682	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tactggatgatctcctcctcGtccgcgtccacgtagagcgt	6	11	10	14	5	1	2	0	1	1	1	6	3	4	3	4	1	2	1	4	1	2	2			TCGA-KK-A7AV-01A-11D-A32B-08	TCGA-KK-A7AV-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f3b9e81-6a08-4d69-9cfa-8a6b2debb441	ac932a61-4c1c-4987-96e1-97364aca3e20	g.chr8:143694682G>A	ENST00000356613.2	-	1	2151	c.951C>T	c.(949-951)gaC>gaT	p.D317D	ARC_ENST00000581404.1_5'Flank	NM_015193.4	NP_056008.1	O60936	NOL3_HUMAN	activity-regulated cytoskeleton-associated protein	0					apoptotic process (GO:0006915)|mRNA processing (GO:0006397)|negative regulation of apoptotic process (GO:0043066)|regulation of gene expression (GO:0010468)|response to hypoxia (GO:0001666)|response to injury involved in regulation of muscle adaptation (GO:0014876)|RNA splicing (GO:0008380)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|sarcoplasm (GO:0016528)	identical protein binding (GO:0042802)|RNA binding (GO:0003723)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(3)|upper_aerodigestive_tract(1)	13	all_cancers(97;3.55e-12)|all_epithelial(106;1.03e-08)|Lung NSC(106;0.000353)|all_lung(105;0.00092)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;0.0279)				TCTCCTCCTCGTCCGCGTCCA	0.657																																						ENST00000356613.2																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(3)|upper_aerodigestive_tract(1)	13						c.(949-951)gaC>gaT		activity-regulated cytoskeleton-associated protein							64	63	63					8																	143694682		2203	4300	6503	SO:0001819	synonymous_variant	23237				endocytosis	acrosomal vesicle|cell junction|dendritic spine|endosome|postsynaptic density|postsynaptic membrane		g.chr8:143694682G>A	AF193421	CCDS34950.1	8q24.3	2008-08-01			ENSG00000198576	ENSG00000198576			648	protein-coding gene	gene with protein product		612461				10970730, 17466953	Standard	NM_015193		Approved	KIAA0278, Arg3.1	uc003ywn.2	Q7LC44	OTTHUMG00000134310	ENST00000356613.2:c.951C>T	8.37:g.143694682G>A							p.D317D	NM_015193.3	NP_056008.1	Q7LC44	ARC_HUMAN			1	2151	-	all_cancers(97;3.55e-12)|all_epithelial(106;1.03e-08)|Lung NSC(106;0.000353)|all_lung(105;0.00092)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;0.0279)	317					B4DFL0|O60937	Silent	SNP	ENST00000356613.2	37	c.951C>T	CCDS34950.1																																																																																				0.657	ARC-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259274.2			3	31	0	0	0	1	0	3	31					A	143694682	G	A	143694682	2	1	323	1	0	0	0	0	0	0	0	1	841	1136	40	1		1	ARC	8	143694682	Silent	SNP	G	TCGA-KK-A7AV-01A-11D-A32B-08	4549723	143694682	2669340	16	16542											
RAB38	23682	broad.mit.edu	37	chr11	87847227	87847227	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gggcttcacgacgtccggctCaatagactccattaggtcac	9	9	10	13	3	3	1	3	0	0	1	5	2	5	1	2	3	0	2	2	3	3	3			TCGA-KK-A7AV-01A-11D-A32B-08	TCGA-KK-A7AV-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f3b9e81-6a08-4d69-9cfa-8a6b2debb441	ac932a61-4c1c-4987-96e1-97364aca3e20	g.chr11:87847227C>T	ENST00000243662.6	-	3	647	c.565G>A	c.(565-567)Gag>Aag	p.E189K	RP11-164N3.3_ENST00000528458.1_RNA	NM_022337.2	NP_071732.1	P57729	RAB38_HUMAN	RAB38, member RAS oncogene family	189					endosome to melanosome transport (GO:0035646)|GTP catabolic process (GO:0006184)|melanosome organization (GO:0032438)|phagosome acidification (GO:0090383)|platelet dense granule organization (GO:0060155)|protein localization to membrane (GO:0072657)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|early endosome (GO:0005769)|melanosome (GO:0042470)|membrane (GO:0016020)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)	AP-1 adaptor complex binding (GO:0035650)|AP-3 adaptor complex binding (GO:0035651)|GTP binding (GO:0005525)|GTP-dependent protein binding (GO:0030742)|GTPase activity (GO:0003924)|protein complex binding (GO:0032403)			large_intestine(2)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	11		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				ACGTCCGGCTCAATAGACTCC	0.463																																						ENST00000243662.6																			0				large_intestine(2)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	11						c.(565-567)Gag>Aag		RAB38, member RAS oncogene family							156	147	150					11																	87847227		2201	4299	6500	SO:0001583	missense	23682				protein transport|small GTPase mediated signal transduction	melanosome|plasma membrane	GTP binding|GTPase activity	g.chr11:87847227C>T	AF235022	CCDS8281.1	11q14	2008-05-14			ENSG00000123892	ENSG00000123892		"RAB, member RAS oncogene"	9776	protein-coding gene	gene with protein product		606281				10910072	Standard	NM_022337		Approved	NY-MEL-1	uc001pcj.2	P57729	OTTHUMG00000167288	ENST00000243662.6:c.565G>A	11.37:g.87847227C>T	ENSP00000243662:p.Glu189Lys					RP11-164N3.3_ENST00000528458.1_RNA	p.E189K	NM_022337.2	NP_071732.1	P57729	RAB38_HUMAN			3	647	-		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)	189					Q53XK7	Missense_Mutation	SNP	ENST00000243662.6	37	c.565G>A	CCDS8281.1	.	.	.	.	.	.	.	.	.	.	C	14.40	2.523283	0.44866	.	.	ENSG00000123892	ENST00000243662	T	0.79454	-1.27	5.47	4.55	0.56014	.	0.120176	0.56097	D	0.000026	T	0.63570	0.2522	N	0.19112	0.55	0.38868	D	0.956638	B	0.25850	0.136	B	0.24006	0.05	T	0.60321	-0.7286	9	.	.	.	-0.3678	14.3992	0.67031	0.0:0.8411:0.1589:0.0	.	189	P57729	RAB38_HUMAN	K	189	ENSP00000243662:E189K	.	E	-	1	0	RAB38	87486875	0.993000	0.37304	0.528000	0.27938	0.755000	0.42902	3.123000	0.50453	1.414000	0.47017	0.650000	0.86243	GAG		0.463	RAB38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394015.2			12	104	0	0	0	1	0	12	104					T	87847227	C	T	87847227	3	4	323	1	0	0	0	0	1	0	0	0	12928	835	29	3	74	3	RAB38	11	87847227	Missense_Mutation	SNP	C	TCGA-KK-A7AV-01A-11D-A32B-08		87847227	47159289	17	16543											
ACAD10	80724	broad.mit.edu	37	chr12	112153743	112153743	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gggacactccttccatctgcCcatgccatagagagggagtt	9	9	11	12	0	1	1	0	0	1	1	3	4	3	3	4	2	2	1	4	2	1	3	rs112990162	byFrequency	TCGA-KK-A7AV-01A-11D-A32B-08	TCGA-KK-A7AV-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f3b9e81-6a08-4d69-9cfa-8a6b2debb441	ac932a61-4c1c-4987-96e1-97364aca3e20	g.chr12:112153743C>T	ENST00000313698.4	+	7	1124	c.969C>T	c.(967-969)gcC>gcT	p.A323A	ACAD10_ENST00000413681.3_3'UTR|ACAD10_ENST00000549590.1_Silent_p.A323A|ACAD10_ENST00000392636.2_5'UTR|ACAD10_ENST00000455480.2_Silent_p.A354A	NM_025247.5	NP_079523.3	Q6JQN1	ACD10_HUMAN	acyl-CoA dehydrogenase family, member 10	323						mitochondrion (GO:0005739)	acyl-CoA dehydrogenase activity (GO:0003995)|flavin adenine dinucleotide binding (GO:0050660)|hydrolase activity (GO:0016787)|transferase activity, transferring phosphorus-containing groups (GO:0016772)			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(17)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(5)	47						TTCCATCTGCCCATGCCATAG	0.517																																						ENST00000455480.2																			0				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(17)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(5)	47						c.(1060-1062)gcC>gcT		acyl-CoA dehydrogenase family, member 10							154	156	155					12																	112153743		2203	4300	6503	SO:0001819	synonymous_variant	80724						acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|hydrolase activity|transferase activity, transferring phosphorus-containing groups	g.chr12:112153743C>T	AY323912	CCDS31903.1, CCDS44973.1	12q24.12	2012-10-02	2010-04-30		ENSG00000111271	ENSG00000111271			21597	protein-coding gene	gene with protein product		611181	"acyl-Coenzyme A dehydrogenase family, member 10"			15560374	Standard	NM_025247		Approved	MGC5601	uc009zvx.3	Q6JQN1	OTTHUMG00000169602	ENST00000313698.4:c.969C>T	12.37:g.112153743C>T						ACAD10_ENST00000313698.4_Silent_p.A323A|ACAD10_ENST00000549590.1_Silent_p.A323A|ACAD10_ENST00000413681.3_3'UTR|ACAD10_ENST00000392636.2_5'UTR	p.A354A	NM_001136538.1	NP_001130010.1	Q6JQN1	ACD10_HUMAN			8	1239	+			323					G3XAJ0|Q8N828|Q8NAP2|Q96BX5	Silent	SNP	ENST00000313698.4	37	c.1062C>T	CCDS31903.1																																																																																				0.517	ACAD10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368307.1	NM_025247		6	132	0	0	0	1	0	6	132					T	112153743	C	T	112153743	2	4	323	1	0	0	0	0	0	0	0	1	108	610	22	3		3	ACAD10	12	112153743	Silent	SNP	C	TCGA-KK-A7AV-01A-11D-A32B-08		112153743	21698152	18	16544											
NEO1	4756	broad.mit.edu	37	chr15	73590704	73590704	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tgtagaatccgttcgaaataCccccagcactgacaccatgc	12	8	7	14	2	0	2	0	1	0	1	2	3	1	2	4	0	3	3	4	0	4	3			TCGA-KK-A7AV-01A-11D-A32B-08	TCGA-KK-A7AV-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f3b9e81-6a08-4d69-9cfa-8a6b2debb441	ac932a61-4c1c-4987-96e1-97364aca3e20	g.chr15:73590704C>A	ENST00000339362.5	+	28	4364	c.3917C>A	c.(3916-3918)aCc>aAc	p.T1306N	NEO1_ENST00000560262.1_Missense_Mutation_p.T1253N|NEO1_ENST00000261908.6_Missense_Mutation_p.T1306N|NEO1_ENST00000558964.1_Missense_Mutation_p.T1295N			Q92859	NEO1_HUMAN	neogenin 1	1306					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|iron ion homeostasis (GO:0055072)|muscle cell differentiation (GO:0042692)|myoblast fusion (GO:0007520)|positive regulation of muscle cell differentiation (GO:0051149)|regulation of transcription, DNA-templated (GO:0006355)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(9)|lung(26)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	57						GTTCGAAATACCCCCAGCACT	0.493																																						ENST00000339362.5																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(9)|lung(26)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	57						c.(3916-3918)aCc>aAc		neogenin 1							77	71	73					15																	73590704		2198	4297	6495	SO:0001583	missense	4756				axon guidance|cell adhesion|positive regulation of muscle cell differentiation	Golgi apparatus|integral to plasma membrane|nucleus		g.chr15:73590704C>A	U61262	CCDS10247.1, CCDS53957.1, CCDS58378.1	15q22.3-q23	2014-06-20	2010-06-24		ENSG00000067141	ENSG00000067141		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	7754	protein-coding gene	gene with protein product	"immunoglobulin superfamily, DCC subclass, member 2"	601907	"neogenin (chicken) homolog 1"			9121761	Standard	NM_002499		Approved	NGN, HsT17534, IGDCC2, NTN1R2	uc002avm.4	Q92859	OTTHUMG00000133509	ENST00000339362.5:c.3917C>A	15.37:g.73590704C>A	ENSP00000341198:p.Thr1306Asn					NEO1_ENST00000560262.1_Missense_Mutation_p.T1253N|NEO1_ENST00000558964.1_Missense_Mutation_p.T1295N|NEO1_ENST00000261908.6_Missense_Mutation_p.T1306N	p.T1306N			Q92859	NEO1_HUMAN			28	4364	+			1306					B7ZKM9|B7ZKN0|O00340|Q17RX1	Missense_Mutation	SNP	ENST00000339362.5	37	c.3917C>A	CCDS10247.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.325349	0.81580	.	.	ENSG00000067141	ENST00000339362;ENST00000379842;ENST00000261908	T	0.52295	0.67	5.22	5.22	0.72569	Neogenin, C-terminal (1);	0.046090	0.85682	D	0.000000	T	0.55561	0.1928	L	0.57536	1.79	0.80722	D	1	P;B;P;P	0.44521	0.837;0.02;0.605;0.605	P;B;P;P	0.50708	0.576;0.063;0.648;0.568	T	0.47935	-0.9078	10	0.15066	T	0.55	-14.7339	18.3946	0.90494	0.0:1.0:0.0:0.0	.	1253;1295;1017;1306	B7ZKM9;B7ZKN0;E7EUX3;Q92859	.;.;.;NEO1_HUMAN	N	1253;1017;1306	ENSP00000261908:T1306N	ENSP00000261908:T1306N	T	+	2	0	NEO1	71377757	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.270000	0.78493	2.443000	0.82685	0.655000	0.94253	ACC		0.493	NEO1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257472.2	NM_002499		4	52	1	0	0.000602214	1	0.000677491	4	52					A	73590704	C	A	73590704	3	1	323	1	0	0	0	0	1	0	0	0	10336	507	18	5	4023	5	NEO1	15	73590704	Missense_Mutation	SNP	C	TCGA-KK-A7AV-01A-11D-A32B-08		73590704	28940688	19	16545											
MUC16	94025	broad.mit.edu	37	chr19	9061807	9061807	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggaaggctcggccatggcaCatctccaggagttctactca	9	8	12	12	1	3	0	1	0	2	0	5	2	3	2	2	5	1	3	2	5	2	2			TCGA-KK-A7AV-01A-11D-A32B-08	TCGA-KK-A7AV-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f3b9e81-6a08-4d69-9cfa-8a6b2debb441	ac932a61-4c1c-4987-96e1-97364aca3e20	g.chr19:9061807C>G	ENST00000397910.4	-	3	25842	c.25639G>C	c.(25639-25641)Gtg>Ctg	p.V8547L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	8549	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GGCCATGGCACATCTCCAGGA	0.498																																						ENST00000397910.4																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(25639-25641)Gtg>Ctg		mucin 16, cell surface associated							65	65	65					19																	9061807		1973	4150	6123	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9061807C>G	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.25639G>C	19.37:g.9061807C>G	ENSP00000381008:p.Val8547Leu						p.V8547L	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			3	25842	-			8549			Ser-rich.|Thr-rich.		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.25639G>C	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	c	6.986	0.552046	0.13374	.	.	ENSG00000181143	ENST00000397910	T	0.19250	2.16	3.05	-2.52	0.06346	.	.	.	.	.	T	0.11580	0.0282	N	0.19112	0.55	.	.	.	B	0.24576	0.106	B	0.26517	0.07	T	0.30446	-0.9978	8	0.87932	D	0	.	4.6467	0.12575	0.0:0.316:0.4281:0.2558	.	8547	B5ME49	.	L	8547	ENSP00000381008:V8547L	ENSP00000381008:V8547L	V	-	1	0	MUC16	8922807	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.067000	0.11579	-0.337000	0.08426	0.450000	0.29827	GTG		0.498	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		7	29	0	0	0	1	0	7	29					G	9061807	C	G	9061807	3	3	323	1	0	0	0	0	1	0	0	0	9973	478	17	5	18212	5	MUC16	19	9061807	Missense_Mutation	SNP	C	TCGA-KK-A7AV-01A-11D-A32B-08		9061807	50067176	20	16546											
FBL	2091	broad.mit.edu	37	chr19	40331091	40331091	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tccaccatcacattcttcccCgactggtttcctctttttcc	5	16	3	17	1	3	0	1	0	2	0	7	1	7	0	6	1	0	1	6	1	0	5	rs141906890		TCGA-KK-A7AV-01A-11D-A32B-08	TCGA-KK-A7AV-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f3b9e81-6a08-4d69-9cfa-8a6b2debb441	ac932a61-4c1c-4987-96e1-97364aca3e20	g.chr19:40331091C>T	ENST00000221801.3	-	3	359	c.246G>A	c.(244-246)tcG>tcA	p.S82S	FBL_ENST00000593503.1_5'Flank	NM_001436.3	NP_001427.2	P22087	FBRL_HUMAN	fibrillarin	82					histone glutamine methylation (GO:1990258)|osteoblast differentiation (GO:0001649)|rRNA processing (GO:0006364)|snoRNA metabolic process (GO:0016074)|tRNA processing (GO:0008033)	box C/D snoRNP complex (GO:0031428)|Cajal body (GO:0015030)|extracellular vesicular exosome (GO:0070062)|granular component (GO:0001652)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	histone-glutamine methyltransferase activity (GO:1990259)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(1)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)	9	all_cancers(60;5.79e-06)|all_lung(34;5.2e-08)|Lung NSC(34;6.14e-08)|Ovarian(47;0.06)	Renal(1328;0.000518)|Hepatocellular(1079;0.0893)	Epithelial(26;5.74e-25)|OV - Ovarian serous cystadenocarcinoma(5;3.13e-24)|all cancers(26;8.59e-23)	GBM - Glioblastoma multiforme(1328;0.000826)|STAD - Stomach adenocarcinoma(1328;0.138)		CATTCTTCCCCGACTGGTTTC	0.597																																						ENST00000221801.3																			0				endometrium(1)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)	9						c.(244-246)tcG>tcA		fibrillarin		C		2,4404	4.2+/-10.8	0,2,2201	292	252	266		246	-10	0.9	19	dbSNP_134	266	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	FBL	NM_001436.3		0,3,6500	TT,TC,CC		0.0116,0.0454,0.0231		82/322	40331091	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	2091				rRNA processing|tRNA processing	box C/D snoRNP complex|Cajal body	methyltransferase activity|protein binding|RNA binding	g.chr19:40331091C>T	AC005393	CCDS12545.1	19q13.1	2010-02-17			ENSG00000105202	ENSG00000105202			3599	protein-coding gene	gene with protein product		134795				1846968, 2026646	Standard	NM_001436		Approved	RNU3IP1, FLRN, FIB	uc002omn.3	P22087		ENST00000221801.3:c.246G>A	19.37:g.40331091C>T							p.S82S	NM_001436.3	NP_001427.2	P22087	FBRL_HUMAN	Epithelial(26;5.74e-25)|OV - Ovarian serous cystadenocarcinoma(5;3.13e-24)|all cancers(26;8.59e-23)	GBM - Glioblastoma multiforme(1328;0.000826)|STAD - Stomach adenocarcinoma(1328;0.138)	3	359	-	all_cancers(60;5.79e-06)|all_lung(34;5.2e-08)|Lung NSC(34;6.14e-08)|Ovarian(47;0.06)	Renal(1328;0.000518)|Hepatocellular(1079;0.0893)	82					B5BUE8|O75259|Q6IAT5|Q9UPI6	Silent	SNP	ENST00000221801.3	37	c.246G>A	CCDS12545.1																																																																																				0.597	FBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462509.4	NM_001436		7	211	0	0	0	1	0	7	211					T	40331091	C	T	40331091	2	4	323	1	0	0	0	0	0	0	0	1	5696	639	23	2		2	FBL	19	40331091	Silent	SNP	C	TCGA-KK-A7AV-01A-11D-A32B-08	31269284	40331091	18797892	21	16547											
SPTBN4	57731	broad.mit.edu	37	chr19	41078060	41078060	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aaggccaccagcgaggtggcTagtgactacaagaaaaagaa	17	4	12	8	1	0	3	0	1	0	2	0	4	0	3	2	3	2	1	2	3	7	2			TCGA-KK-A7AV-01A-11D-A32B-08	TCGA-KK-A7AV-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f3b9e81-6a08-4d69-9cfa-8a6b2debb441	ac932a61-4c1c-4987-96e1-97364aca3e20	g.chr19:41078060T>C	ENST00000352632.3	+	34	7541	c.7455T>C	c.(7453-7455)gcT>gcC	p.A2485A	SPTBN4_ENST00000392025.1_Silent_p.A1228A|SPTBN4_ENST00000593816.1_3'UTR|SPTBN4_ENST00000598249.1_Silent_p.A2485A			Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4	2485	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				actin filament capping (GO:0051693)|adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cardiac conduction (GO:0061337)|central nervous system projection neuron axonogenesis (GO:0021952)|clustering of voltage-gated sodium channels (GO:0045162)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization to plasma membrane (GO:0090002)|fertilization (GO:0009566)|negative regulation of heart rate (GO:0010459)|positive regulation of multicellular organism growth (GO:0040018)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of sodium ion transport (GO:0002028)|sensory perception of sound (GO:0007605)|transmission of nerve impulse (GO:0019226)|vesicle-mediated transport (GO:0016192)	adherens junction (GO:0005912)|axon hillock (GO:0043203)|axon initial segment (GO:0043194)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|nuclear matrix (GO:0016363)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|PML body (GO:0016605)|spectrin (GO:0008091)	actin binding (GO:0003779)|ankyrin binding (GO:0030506)|phosphatase binding (GO:0019902)|phospholipid binding (GO:0005543)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			GCGAGGTGGCTAGTGACTACA	0.607																																						ENST00000352632.3																			0				breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73						c.(7453-7455)gcT>gcC		spectrin, beta, non-erythrocytic 4							77	82	80					19																	41078060		2203	4300	6503	SO:0001819	synonymous_variant	57731				actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport	cytosol|nuclear matrix|PML body|spectrin	actin binding|ankyrin binding|structural constituent of cytoskeleton	g.chr19:41078060T>C	AF082075	CCDS12559.1, CCDS42569.1	19q13.13	2013-01-10				ENSG00000160460		"Pleckstrin homology (PH) domain containing"	14896	protein-coding gene	gene with protein product		606214				11086001	Standard	NM_020971		Approved	SPTBN3, KIAA1642	uc002onz.3	Q9H254		ENST00000352632.3:c.7455T>C	19.37:g.41078060T>C						SPTBN4_ENST00000598249.1_Silent_p.A2485A|SPTBN4_ENST00000392025.1_Silent_p.A1228A|SPTBN4_ENST00000593816.1_3'UTR	p.A2485A			Q9H254	SPTN4_HUMAN	Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)		34	7541	+			2485			PH.		E9PGQ5|Q9H1K7|Q9H1K8|Q9H1K9|Q9H253|Q9H3G8|Q9HCD0	Silent	SNP	ENST00000352632.3	37	c.7455T>C	CCDS12559.1																																																																																				0.607	SPTBN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462559.2			6	121	0	0	0	1	0	6	121					C	41078060	T	C	41078060	2	2	323	1	0	0	0	0	0	0	0	1	15120	1509	53	4		4	SPTBN4	19	41078060	Silent	SNP	T	TCGA-KK-A7AV-01A-11D-A32B-08	746969	41078060	18050923	22	16548											
SIM2	6493	broad.mit.edu	37	chr21	38098585	38098585	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acatgttcatgttcagggccAgccttgacctgaagctgata	10	11	10	10	0	2	3	2	3	0	0	2	3	2	3	3	1	2	3	3	1	2	4			TCGA-KK-A7AV-01A-11D-A32B-08	TCGA-KK-A7AV-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f3b9e81-6a08-4d69-9cfa-8a6b2debb441	ac932a61-4c1c-4987-96e1-97364aca3e20	g.chr21:38098585A>G	ENST00000290399.6	+	6	1322	c.709A>G	c.(709-711)Agc>Ggc	p.S237G	SIM2_ENST00000430056.3_Missense_Mutation_p.S237G	NM_005069.3	NP_005060.1	Q14190	SIM2_HUMAN	single-minded family bHLH transcription factor 2	237	PAS 2. {ECO:0000255|PROSITE- ProRule:PRU00140}.				cell differentiation (GO:0030154)|embryonic pattern specification (GO:0009880)|lung development (GO:0030324)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(6)|prostate(1)|skin(2)	16						GTTCAGGGCCAGCCTTGACCT	0.582																																						ENST00000290399.6																			0				breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(6)|prostate(1)|skin(2)	16						c.(709-711)Agc>Ggc		single-minded family bHLH transcription factor 2							86	62	71					21																	38098585		2203	4300	6503	SO:0001583	missense	6493				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr21:38098585A>G		CCDS13646.1	21q22.2	2013-10-17	2013-10-17		ENSG00000159263	ENSG00000159263		"Basic helix-loop-helix proteins"	10883	protein-coding gene	gene with protein product	"transcription factor SIM2"	600892	"single-minded (Drosophila) homolog 2", "single-minded homolog 2 (Drosophila)"	SIM		7485157	Standard	NM_009586		Approved	MGC119447, bHLHe15	uc002yvr.2	Q14190	OTTHUMG00000086637	ENST00000290399.6:c.709A>G	21.37:g.38098585A>G	ENSP00000290399:p.Ser237Gly					SIM2_ENST00000430056.3_Missense_Mutation_p.S237G	p.S237G	NM_005069.3	NP_005060.1	Q14190	SIM2_HUMAN			6	1322	+			237			PAS 2.		O60766|Q15470|Q15471|Q15472|Q15473|Q16532|Q2TBD8	Missense_Mutation	SNP	ENST00000290399.6	37	c.709A>G	CCDS13646.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	21.8|21.8	4.200838|4.200838	0.79015|0.79015	.|.	.|.	ENSG00000159263|ENSG00000159263	ENST00000431229|ENST00000290399;ENST00000430056	.|T;T	.|0.79554	.|-1.28;-1.28	5.44|5.44	5.44|5.44	0.79542|0.79542	.|PAS (2);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.90287|0.90287	0.6962|0.6962	M|M	0.87328|0.87328	2.875|2.875	0.46376|0.46376	D|D	0.99901|0.99901	.|D;D	.|0.69078	.|0.997;0.997	.|D;D	.|0.65684	.|0.936;0.937	D|D	0.92076|0.92076	0.5668|0.5668	5|10	.|0.87932	.|D	.|0	.|.	15.804|15.804	0.78477|0.78477	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|237;237	.|Q14190;Q14190-2	.|SIM2_HUMAN;.	R|G	174|237	.|ENSP00000290399:S237G;ENSP00000404176:S237G	.|ENSP00000290399:S237G	Q|S	+|+	2|1	0|0	SIM2|SIM2	37020455|37020455	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	8.732000|8.732000	0.91534|0.91534	2.193000|2.193000	0.70182|0.70182	0.533000|0.533000	0.62120|0.62120	CAG|AGC		0.582	SIM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194692.1	NM_009586		4	25	0	0	0	1	0	4	25					G	38098585	A	G	38098585	3	3	323	1	0	0	0	0	1	0	0	0	14324	188	7	4	731	4	SIM2	21	38098585	Missense_Mutation	SNP	A	TCGA-KK-A7AV-01A-11D-A32B-08		38098585	10031310	23	16549											
SSX5	6758	broad.mit.edu	37	chrX	48054447	48054447	+	Intron	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aacatggggcacctaccctaGcttctcccctgccacacagt	9	8	7	17	0	1	0	0	0	1	0	2	0	1	0	5	2	4	2	5	2	3	3			TCGA-KK-A7AV-01A-11D-A32B-08	TCGA-KK-A7AV-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f3b9e81-6a08-4d69-9cfa-8a6b2debb441	ac932a61-4c1c-4987-96e1-97364aca3e20	g.chrX:48054447G>A	ENST00000376923.1	-	2	69				SSX5_ENST00000347757.1_Intron|SSX5_ENST00000311798.1_Missense_Mutation_p.A63V			O60225	SSX5_HUMAN	synovial sarcoma, X breakpoint 5						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)			endometrium(3)|kidney(1)|large_intestine(6)|lung(7)|skin(1)	18						ACCTACCCTAGCTTCTCCCCT	0.537																																						ENST00000311798.1																			0				endometrium(3)|kidney(1)|large_intestine(6)|lung(7)|skin(1)	18						c.(187-189)gCt>gTt		synovial sarcoma, X breakpoint 5							61	53	55					X																	48054447		2203	4299	6502	SO:0001627	intron_variant	6758				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding	g.chrX:48054447G>A	BC016640	CCDS14288.1, CCDS14289.1	Xp11.23	2008-02-05			ENSG00000165583	ENSG00000165583			11339	protein-coding gene	gene with protein product		300327					Standard	NM_021015		Approved		uc004diz.1	O60225	OTTHUMG00000021471	ENST00000376923.1:c.70-157C>T	X.37:g.48054447G>A						SSX5_ENST00000347757.1_Intron|SSX5_ENST00000376923.1_Intron	p.A63V	NM_021015.3	NP_066295.3	O60225	SSX5_HUMAN			3	240	-			23			KRAB-related.		Q5JQ59|Q5JQ60|Q96AW3	Missense_Mutation	SNP	ENST00000376923.1	37	c.188C>T	CCDS14289.1	.	.	.	.	.	.	.	.	.	.	N	12.54	1.968378	0.34754	.	.	ENSG00000165583	ENST00000311798	T	0.00784	5.7	1.51	-0.735	0.11137	.	.	.	.	.	T	0.01870	0.0059	.	.	.	0.09310	N	1	D	0.76494	0.999	D	0.80764	0.994	T	0.49103	-0.8974	8	0.33141	T	0.24	.	2.809	0.05435	0.2328:0.3441:0.4231:0.0	.	63	O60225-2	.	V	63	ENSP00000312415:A63V	ENSP00000312415:A63V	A	-	2	0	SSX5	47939391	0.002000	0.14202	0.000000	0.03702	0.015000	0.08874	0.431000	0.21444	-0.319000	0.08652	0.171000	0.16805	GCT		0.537	SSX5-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000056466.1	NM_021015		6	15	0	0	0	1	0	6	15					A	48054447	G	A	48054447	1	1	323	0	1	0	0	0	0	0	0	0	15207	971	34	3		3	SSX5	23	48054447	Intron	SNP	G	TCGA-KK-A7AV-01A-11D-A32B-08		48054447	107216113	24	16550											
NUDT10	170685	broad.mit.edu	37	chrX	51076024	51076024	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtccgagaggtgtacgaagaGgcgggagtcaaggggaagtt	11	6	19	5	3	1	2	1	0	0	2	2	6	2	4	1	5	1	2	1	5	4	2	rs143435240		TCGA-KK-A7AV-01A-11D-A32B-08	TCGA-KK-A7AV-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f3b9e81-6a08-4d69-9cfa-8a6b2debb441	ac932a61-4c1c-4987-96e1-97364aca3e20	g.chrX:51076024G>A	ENST00000376006.3	+	2	427	c.207G>A	c.(205-207)gaG>gaA	p.E69E	NUDT10_ENST00000356450.2_Silent_p.E69E	NM_153183.2	NP_694853.1	Q9BW91	NUDT9_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 10	234					ADP catabolic process (GO:0046032)|IDP catabolic process (GO:0046709)|nucleobase-containing small molecule catabolic process (GO:0034656)|nucleobase-containing small molecule metabolic process (GO:0055086)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|mitochondrial matrix (GO:0005759)	adenosine-diphosphatase activity (GO:0043262)|ADP-ribose diphosphatase activity (GO:0047631)|ADP-sugar diphosphatase activity (GO:0019144)	p.E69E(8)		cervix(1)|endometrium(8)|kidney(1)|large_intestine(1)|lung(1)|prostate(3)|upper_aerodigestive_tract(1)	16	Ovarian(276;0.236)					TGTACGAAGAGGCGGGAGTCA	0.657																																					NSCLC(90;1817 2035 37909 38249)	ENST00000376006.3																			8	Substitution - coding silent(8)	p.E69E(8)	endometrium(5)|cervix(1)|prostate(1)|lung(1)	cervix(1)|endometrium(8)|kidney(1)|large_intestine(1)|lung(1)|prostate(3)|upper_aerodigestive_tract(1)	16						c.(205-207)gaG>gaA		nudix (nucleoside diphosphate linked moiety X)-type motif 10							52	62	59					X																	51076024		2203	4300	6503	SO:0001819	synonymous_variant	170685					cytoplasm	diphosphoinositol-polyphosphate diphosphatase activity|metal ion binding	g.chrX:51076024G>A	AF469196	CCDS35278.1	Xp11.22-p11.1	2014-05-20			ENSG00000122824	ENSG00000122824		"Nudix motif containing"	17621	protein-coding gene	gene with protein product		300527				12105228	Standard	NM_153183		Approved	DIPP3a, hDIPP3alpha	uc004dph.3	Q8NFP7	OTTHUMG00000021530	ENST00000376006.3:c.207G>A	X.37:g.51076024G>A						NUDT10_ENST00000356450.2_Silent_p.E69E	p.E69E	NM_153183.2	NP_694853.1	Q8NFP7	NUD10_HUMAN			2	427	+	Ovarian(276;0.236)		69			Nudix hydrolase.		Q8NBN1|Q8NCB9|Q8NG25	Silent	SNP	ENST00000376006.3	37	c.207G>A	CCDS35278.1																																																																																				0.657	NUDT10-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056578.1	NM_153183		3	23	0	0	0	1	0	3	23					A	51076024	G	A	51076024	2	1	323	1	0	0	0	0	0	0	0	1	10726	991	35	3		3	NUDT10	23	51076024	Silent	SNP	G	TCGA-KK-A7AV-01A-11D-A32B-08	3021577	51076024	104194536	25	16551											
HCFC1	3054	broad.mit.edu	37	chrX	153216820	153216820	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtctgatgggacagcatcaTctggtggcaggaaatagtgt	10	10	14	7	1	3	1	1	1	2	0	3	3	3	3	0	4	1	2	0	4	2	1			TCGA-KK-A7AV-01A-11D-A32B-08	TCGA-KK-A7AV-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f3b9e81-6a08-4d69-9cfa-8a6b2debb441	ac932a61-4c1c-4987-96e1-97364aca3e20	g.chrX:153216820T>C	ENST00000310441.7	-	22	6464	c.5498A>G	c.(5497-5499)gAt>gGt	p.D1833G	HCFC1_ENST00000354233.3_Missense_Mutation_p.D1764G|HCFC1_ENST00000369984.4_Missense_Mutation_p.D1878G	NM_005334.2	NP_005325.2	P51610	HCFC1_HUMAN	host cell factor C1	1833	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell cycle (GO:0007049)|chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell cycle (GO:0045787)|positive regulation of gene expression (GO:0010628)|protein stabilization (GO:0050821)|regulation of protein complex assembly (GO:0043254)|regulation of transcription, DNA-templated (GO:0006355)|release from viral latency (GO:0019046)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|membrane (GO:0016020)|mitochondrion (GO:0005739)|MLL1 complex (GO:0071339)|MLL5-L complex (GO:0070688)|neuronal cell body (GO:0043025)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)	chromatin binding (GO:0003682)|identical protein binding (GO:0042802)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			NS(1)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(3)|large_intestine(3)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GACAGCATCATCTGGTGGCAG	0.542																																						ENST00000310441.7																			0				NS(1)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(3)|large_intestine(3)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						c.(5497-5499)gAt>gGt		host cell factor C1 (VP16-accessory protein)							221	224	223					X																	153216820		2114	4213	6327	SO:0001583	missense	3054				cell cycle|interspecies interaction between organisms|positive regulation of cell cycle|positive regulation of gene expression|protein stabilization|reactivation of latent virus|regulation of protein complex assembly|transcription from RNA polymerase II promoter	mitochondrion|MLL1 complex|MLL5-L complex|Set1C/COMPASS complex	chromatin binding|identical protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chrX:153216820T>C		CCDS44020.1	Xq28	2014-06-12	2014-06-09		ENSG00000172534	ENSG00000172534			4839	protein-coding gene	gene with protein product	"VP16-accessory protein", "protein phosphatase 1, regulatory subunit 89"	300019	"mental retardation, X-linked 3", "host cell factor C1 (VP16-accessory protein)"	HFC1, MRX3		8392914, 23000143	Standard	XM_005274664		Approved	HCF-1, HCF1, CFF, VCAF, MGC70925, PPP1R89	uc004fjp.3	P51610	OTTHUMG00000024222	ENST00000310441.7:c.5498A>G	X.37:g.153216820T>C	ENSP00000309555:p.Asp1833Gly					HCFC1_ENST00000354233.3_Missense_Mutation_p.D1764G|HCFC1_ENST00000369984.4_Missense_Mutation_p.D1878G	p.D1833G	NM_005334.2	NP_005325.2	P51610	HCFC1_HUMAN			22	6464	-	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		1833					Q6P4G5	Missense_Mutation	SNP	ENST00000310441.7	37	c.5498A>G	CCDS44020.1	.	.	.	.	.	.	.	.	.	.	T	20.7	4.032183	0.75504	.	.	ENSG00000172534	ENST00000310441;ENST00000369984;ENST00000354233	T;T;T	0.53423	0.62;0.62;0.62	5.66	5.66	0.87406	Fibronectin, type III (1);	0.044852	0.85682	D	0.000000	T	0.51584	0.1683	M	0.69823	2.125	0.49389	D	0.999788	B	0.32968	0.392	B	0.36289	0.221	T	0.55952	-0.8059	10	0.66056	D	0.02	.	13.8755	0.63651	0.0:0.0:0.0:1.0	.	1833	P51610	HCFC1_HUMAN	G	1833;1878;1764	ENSP00000309555:D1833G;ENSP00000359001:D1878G;ENSP00000346174:D1764G	ENSP00000309555:D1833G	D	-	2	0	HCFC1	152870014	1.000000	0.71417	0.868000	0.34077	0.968000	0.65278	3.890000	0.56220	1.921000	0.55644	0.427000	0.28365	GAT		0.542	HCFC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061099.4	NM_005334		5	128	0	0	0	1	0	5	128					C	153216820	T	C	153216820	3	2	323	1	0	0	0	0	1	0	0	0	6991	1435	50	4	629	4	HCFC1	23	153216820	Missense_Mutation	SNP	T	TCGA-KK-A7AV-01A-11D-A32B-08	102140796	153216820	2053740	26	16552											
FAM167B	84734	broad.mit.edu	37	chr1	32713983	32713983	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cggccgcagcgggagatgcaGgcgcaggacaggcagctggc	8	2	19	12	4	0	1	0	0	0	1	0	3	0	2	1	6	3	5	1	6	0	0			TCGA-KK-A7AW-01A-11D-A32B-08	TCGA-KK-A7AW-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a20984a-dea3-4ed4-a100-2b1d193eb825	f746f8be-5ee1-4d6c-9d56-acab7b56ab3b	g.chr1:32713983G>T	ENST00000373582.3	+	2	462	c.273G>T	c.(271-273)caG>caT	p.Q91H	LCK_ENST00000336890.5_5'Flank	NM_032648.2	NP_116037.2	Q9BTA0	F167B_HUMAN	family with sequence similarity 167, member B	91										endometrium(1)|large_intestine(1)|lung(1)|ovary(2)	5						GGGAGATGCAGGCGCAGGACA	0.697											OREG0013330	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000373582.3																			0				endometrium(1)|large_intestine(1)|lung(1)|ovary(2)	5						c.(271-273)caG>caT		family with sequence similarity 167, member B							5	6	6					1																	32713983		1787	3700	5487	SO:0001583	missense	84734							g.chr1:32713983G>T	BC004269	CCDS358.2	1p35.1	2010-08-27	2008-06-11	2008-06-11	ENSG00000183615	ENSG00000183615			28133	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 90"	C1orf90		12477932	Standard	NM_032648		Approved	MGC10820	uc001buw.3	Q9BTA0	OTTHUMG00000007462	ENST00000373582.3:c.273G>T	1.37:g.32713983G>T	ENSP00000362684:p.Gln91His		OREG0013330	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	834		p.Q91H	NM_032648.2	NP_116037.2	Q9BTA0	F167B_HUMAN			2	462	+			91					Q5TDH6	Missense_Mutation	SNP	ENST00000373582.3	37	c.273G>T	CCDS358.2	.	.	.	.	.	.	.	.	.	.	g	18.64	3.666956	0.67814	.	.	ENSG00000183615	ENST00000373582	T	0.58940	0.3	5.13	1.05	0.20165	.	0.102688	0.64402	D	0.000002	T	0.58177	0.2104	L	0.27053	0.805	0.45852	D	0.998711	D	0.55385	0.971	D	0.64321	0.924	T	0.58634	-0.7602	10	0.72032	D	0.01	-2.5002	10.5629	0.45156	0.2884:0.0:0.7116:0.0	.	91	Q9BTA0	F167B_HUMAN	H	91	ENSP00000362684:Q91H	ENSP00000362684:Q91H	Q	+	3	2	FAM167B	32486570	1.000000	0.71417	0.999000	0.59377	0.985000	0.73830	1.606000	0.36826	0.282000	0.22254	-0.310000	0.09108	CAG		0.697	FAM167B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019615.2	NM_032648		3	1	1	0	0.004672	1	0.00492229	3	1					T	32713983	G	T	32713983	3	4	324	1	0	0	0	0	1	0	0	0	5484	991	35	5	279	5	FAM167B	1	32713983	Missense_Mutation	SNP	G	TCGA-KK-A7AW-01A-11D-A32B-08		32713983	216536638	1	16553											
USP24	23358	broad.mit.edu	37	chr1	55569614	55569614	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aagcagttcttttataataaTttgaagatttgaaggtgaac	15	15	8	3	0	1	4	0	3	1	1	1	4	1	4	0	1	2	2	0	1	7	7			TCGA-KK-A7AW-01A-11D-A32B-08	TCGA-KK-A7AW-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a20984a-dea3-4ed4-a100-2b1d193eb825	f746f8be-5ee1-4d6c-9d56-acab7b56ab3b	g.chr1:55569614T>G	ENST00000294383.6	-	42	4959	c.4960A>C	c.(4960-4962)Att>Ctt	p.I1654L	USP24_ENST00000407756.1_Missense_Mutation_p.I1494L	NM_015306.2	NP_056121.2	Q9UPU5	UBP24_HUMAN	ubiquitin specific peptidase 24	1654					ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type peptidase activity (GO:0008234)|ubiquitinyl hydrolase activity (GO:0036459)			breast(4)|cervix(1)|endometrium(8)|kidney(13)|large_intestine(7)|lung(16)|ovary(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	60						TTTATAATAATTTGAAGATTT	0.388																																						ENST00000294383.6																			0				breast(4)|cervix(1)|endometrium(8)|kidney(13)|large_intestine(7)|lung(16)|ovary(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	60						c.(4960-4962)Att>Ctt		ubiquitin specific peptidase 24							57	55	55					1																	55569614		1836	4085	5921	SO:0001583	missense	23358				ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr1:55569614T>G	AB028980	CCDS44154.1, CCDS44154.2	1p32.3	2008-04-11	2005-08-08		ENSG00000162402	ENSG00000162402		"Ubiquitin-specific peptidases"	12623	protein-coding gene	gene with protein product		610569	"ubiquitin specific protease 24"			12838346	Standard	NM_015306		Approved	KIAA1057	uc021onw.1	Q9UPU5	OTTHUMG00000008135	ENST00000294383.6:c.4960A>C	1.37:g.55569614T>G	ENSP00000294383:p.Ile1654Leu					USP24_ENST00000407756.1_Missense_Mutation_p.I1494L	p.I1654L	NM_015306.2	NP_056121.2	Q9UPU5	UBP24_HUMAN			42	4959	-			1654					Q6ZSY2|Q8N2Y4|Q9NXD1	Missense_Mutation	SNP	ENST00000294383.6	37	c.4960A>C	CCDS44154.2	.	.	.	.	.	.	.	.	.	.	T	9.527	1.109735	0.20714	.	.	ENSG00000162402	ENST00000294383;ENST00000407756	T;T	0.66280	-0.2;-0.2	6.05	4.86	0.63082	.	0.105485	0.64402	D	0.000004	T	0.24470	0.0593	N	0.00583	-1.355	0.42293	D	0.99214	B	0.02656	0.0	B	0.01281	0.0	T	0.37056	-0.9722	10	0.06494	T	0.89	.	10.845	0.46739	0.0:0.0:0.2581:0.7419	.	1494	B7WPF4	.	L	1654;1494	ENSP00000294383:I1654L;ENSP00000385700:I1494L	ENSP00000294383:I1654L	I	-	1	0	USP24	55342202	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.338000	0.65947	2.320000	0.78422	0.528000	0.53228	ATT		0.388	USP24-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022275.2			15	7	0	0	0	1	0	15	7					G	55569614	T	G	55569614	3	3	324	1	0	0	0	0	1	0	0	0	17052	1493	52	5	3010	5	USP24	1	55569614	Missense_Mutation	SNP	T	TCGA-KK-A7AW-01A-11D-A32B-08	22855631	55569614	193681007	2	16554											
S100A9	6280	broad.mit.edu	37	chr1	153330777	153330777	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acgatgacttgcaaaatgtcGcagctggaacgcaacataga	15	7	10	9	3	0	2	0	1	0	1	1	4	0	3	0	1	4	4	0	1	5	2	rs112531265	byFrequency	TCGA-KK-A7AW-01A-11D-A32B-08	TCGA-KK-A7AW-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a20984a-dea3-4ed4-a100-2b1d193eb825	f746f8be-5ee1-4d6c-9d56-acab7b56ab3b	g.chr1:153330777G>A	ENST00000368738.3	+	2	61	c.18G>A	c.(16-18)tcG>tcA	p.S6S		NM_002965.3	NP_002956.1	P06702	S10A9_HUMAN	S100 calcium binding protein A9	6				S -> H (in Ref. 12; AA sequence). {ECO:0000305}.	activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|autophagy (GO:0006914)|cell-cell signaling (GO:0007267)|chemokine production (GO:0032602)|chronic inflammatory response (GO:0002544)|cytokine production (GO:0001816)|defense response to bacterium (GO:0042742)|defense response to fungus (GO:0050832)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|leukocyte migration involved in inflammatory response (GO:0002523)|neutrophil aggregation (GO:0070488)|neutrophil chemotaxis (GO:0030593)|positive regulation of cell growth (GO:0030307)|positive regulation of inflammatory response (GO:0050729)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|regulation of cytoskeleton organization (GO:0051493)|response to ethanol (GO:0045471)|response to lipopolysaccharide (GO:0032496)|response to zinc ion (GO:0010043)|sequestering of zinc ion (GO:0032119)|signal transduction (GO:0007165)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	antioxidant activity (GO:0016209)|arachidonic acid binding (GO:0050544)|calcium ion binding (GO:0005509)|microtubule binding (GO:0008017)|RAGE receptor binding (GO:0050786)|signal transducer activity (GO:0004871)|Toll-like receptor 4 binding (GO:0035662)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|large_intestine(2)	4	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.171)			GCAAAATGTCGCAGCTGGAAC	0.478													G|||	3	0.000599042	0	0.0014	5008	,	,		20385	0		0.002	False		,,,				2504	0					ENST00000368738.3																			0				breast(1)|endometrium(1)|large_intestine(2)	4						c.(16-18)tcG>tcA		S100 calcium binding protein A9		G		3,4403	6.2+/-15.9	0,3,2200	105	93	97		18	-8.9	0	1	dbSNP_132	97	20,8580	15.3+/-51.7	0,20,4280	no	coding-synonymous	S100A9	NM_002965.3		0,23,6480	AA,AG,GG		0.2326,0.0681,0.1768		6/115	153330777	23,12983	2203	4300	6503	SO:0001819	synonymous_variant	6280				cell-cell signaling	cytoplasm|cytoskeleton|nucleus|plasma membrane	calcium ion binding|protein binding|signal transducer activity	g.chr1:153330777G>A	BC047681	CCDS1036.1	1q21	2013-01-10	2006-09-11		ENSG00000163220	ENSG00000163220		"S100 calcium binding proteins", "EF-hand domain containing"	10499	protein-coding gene	gene with protein product		123886	"S100 calcium-binding protein A9 (calgranulin B)", "S100 calcium binding protein A9 (calgranulin B)"	CAGB, CFAG			Standard	NM_002965		Approved	P14, MIF, NIF, LIAG, MRP14, MAC387, 60B8AG, CGLB	uc001fbq.3	P06702	OTTHUMG00000013125	ENST00000368738.3:c.18G>A	1.37:g.153330777G>A							p.S6S	NM_002965.3	NP_002956.1	P06702	S10A9_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		2	61	+	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		6	S -> H (in Ref. 12; AA sequence).				D3DV36|Q6FGA1|Q9NYM0|Q9UCJ1	Silent	SNP	ENST00000368738.3	37	c.18G>A	CCDS1036.1																																																																																				0.478	S100A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036793.1	NM_002965		6	41	0	0	0	1	0	6	41					A	153330777	G	A	153330777	2	1	324	1	0	0	0	0	0	0	0	1	13787	1074	38	1		1	S100A9	1	153330777	Silent	SNP	G	TCGA-KK-A7AW-01A-11D-A32B-08	97761163	153330777	95919844	3	16555											
USH2A	7399	broad.mit.edu	37	chr1	216219901	216219901	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gcagcaaagaactgggaaggGatttggctactggtggctga	11	8	16	6	0	0	2	0	1	0	1	0	4	0	4	0	5	3	4	0	5	4	2			TCGA-KK-A7AW-01A-11D-A32B-08	TCGA-KK-A7AW-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a20984a-dea3-4ed4-a100-2b1d193eb825	f746f8be-5ee1-4d6c-9d56-acab7b56ab3b	g.chr1:216219901G>A	ENST00000307340.3	-	32	6583	c.6197C>T	c.(6196-6198)tCc>tTc	p.S2066F	USH2A_ENST00000366943.2_Missense_Mutation_p.S2066F	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	2066	Fibronectin type-III 7. {ECO:0000255|PROSITE-ProRule:PRU00316}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		ACTGGGAAGGGATTTGGCTAC	0.408										HNSCC(13;0.011)																												ENST00000366943.2																			0				NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527						c.(6196-6198)tCc>tTc		Usher syndrome 2A (autosomal recessive, mild)							87	81	83					1																	216219901		2203	4299	6502	SO:0001583	missense	7399				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	g.chr1:216219901G>A	AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"Fibronectin type III domain containing"	12601	protein-coding gene	gene with protein product	"usherin"	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.6197C>T	1.37:g.216219901G>A	ENSP00000305941:p.Ser2066Phe	HNSCC(13;0.011)				USH2A_ENST00000307340.3_Missense_Mutation_p.S2066F	p.S2066F			O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	32	6583	-			2066			Fibronectin type-III 7.		Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	c.6197C>T	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	G	24.7	4.560722	0.86335	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	T;T	0.55413	0.52;0.52	5.48	5.48	0.80851	Fibronectin, type III (3);	0.362846	0.20037	N	0.100590	T	0.67078	0.2855	M	0.79693	2.465	0.36130	D	0.846093	D	0.56521	0.976	P	0.50440	0.641	T	0.76315	-0.3004	10	0.56958	D	0.05	.	18.6938	0.91593	0.0:0.0:1.0:0.0	.	2066	O75445	USH2A_HUMAN	F	2066	ENSP00000305941:S2066F;ENSP00000355910:S2066F	ENSP00000305941:S2066F	S	-	2	0	USH2A	214286524	1.000000	0.71417	0.997000	0.53966	0.990000	0.78478	7.200000	0.77838	2.733000	0.93635	0.655000	0.94253	TCC		0.408	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		18	31	0	0	0	1	0	18	31					A	216219901	G	A	216219901	3	1	324	1	0	0	0	0	1	0	0	0	17033	1174	41	3	9575	3	USH2A	1	216219901	Missense_Mutation	SNP	G	TCGA-KK-A7AW-01A-11D-A32B-08	62889124	216219901	33030720	4	16556											
SNTG2	54221	broad.mit.edu	37	chr2	1271265	1271265	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gggaagagccatgttttcaaCgtggagcttggcagcgagct	9	9	15	8	2	1	1	1	0	0	1	1	4	1	3	1	3	5	4	1	3	2	3	rs371202003		TCGA-KK-A7AW-01A-11D-A32B-08	TCGA-KK-A7AW-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a20984a-dea3-4ed4-a100-2b1d193eb825	f746f8be-5ee1-4d6c-9d56-acab7b56ab3b	g.chr2:1271265C>T	ENST00000308624.5	+	14	1335	c.1206C>T	c.(1204-1206)aaC>aaT	p.N402N	SNTG2_ENST00000407292.1_Silent_p.N275N	NM_018968.3	NP_061841.2	Q9NY99	SNTG2_HUMAN	syntrophin, gamma 2	402	PH.				central nervous system development (GO:0007417)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|syntrophin complex (GO:0016013)	PDZ domain binding (GO:0030165)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.00469)		all cancers(51;0.0178)|OV - Ovarian serous cystadenocarcinoma(76;0.07)|Epithelial(75;0.0864)|GBM - Glioblastoma multiforme(21;0.173)		ATGTTTTCAACGTGGAGCTTG	0.512																																						ENST00000308624.5																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						c.(1204-1206)aaC>aaT		syntrophin, gamma 2		C		0,3922		0,0,1961	48	48	48		1206	-9.2	0	2		48	1,8275		0,1,4137	no	coding-synonymous	SNTG2	NM_018968.3		0,1,6098	TT,TC,CC		0.0121,0.0,0.0082		402/540	1271265	1,12197	1961	4138	6099	SO:0001819	synonymous_variant	54221				central nervous system development	cytoplasm|cytoskeleton|sarcolemma|syntrophin complex	actin binding|PDZ domain binding	g.chr2:1271265C>T	AJ003029	CCDS46220.1	2p25	2008-05-23			ENSG00000172554	ENSG00000172554			13741	protein-coding gene	gene with protein product		608715				10747910	Standard	NM_018968		Approved	SYN5, G2SYN	uc002qwq.3	Q9NY99	OTTHUMG00000151370	ENST00000308624.5:c.1206C>T	2.37:g.1271265C>T						SNTG2_ENST00000407292.1_Silent_p.N275N	p.N402N	NM_018968.3	NP_061841.2	Q9NY99	SNTG2_HUMAN		all cancers(51;0.0178)|OV - Ovarian serous cystadenocarcinoma(76;0.07)|Epithelial(75;0.0864)|GBM - Glioblastoma multiforme(21;0.173)	14	1335	+	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.00469)	402			PH.		Q05AH5	Silent	SNP	ENST00000308624.5	37	c.1206C>T	CCDS46220.1																																																																																				0.512	SNTG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322454.1	NM_018968		3	15	0	0	0	1	0	3	15					T	1271265	C	T	1271265	2	4	324	1	0	0	0	0	0	0	0	1	14875	535	19	1		1	SNTG2	2	1271265	Silent	SNP	C	TCGA-KK-A7AW-01A-11D-A32B-08		1271265	241928108	5	16557											
KIF3C	3797	broad.mit.edu	37	chr2	26151923	26151923	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgtggtggaaggtggaggcCgctgaggactctggcacctg	6	8	19	8	1	1	1	0	1	1	0	1	4	1	4	2	7	0	2	2	7	1	0	rs370755153		TCGA-KK-A7AW-01A-11D-A32B-08	TCGA-KK-A7AW-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a20984a-dea3-4ed4-a100-2b1d193eb825	f746f8be-5ee1-4d6c-9d56-acab7b56ab3b	g.chr2:26151923C>T	ENST00000264712.3	-	8	2885	c.2306G>A	c.(2305-2307)cGg>cAg	p.R769Q	KIF3C_ENST00000405914.1_Missense_Mutation_p.R769Q|KIF3C_ENST00000496378.1_5'Flank	NM_002254.6	NP_002245	O14782	KIF3C_HUMAN	kinesin family member 3C	769	Globular. {ECO:0000255}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|organelle transport along microtubule (GO:0072384)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)	p.R769Q(1)		breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AGGTGGAGGCCGCTGAGGACT	0.602																																						ENST00000264712.3																			1	Substitution - Missense(1)	p.R769Q(1)	large_intestine(1)	breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(2305-2307)cGg>cAg		kinesin family member 3C		C	GLN/ARG	0,4406		0,0,2203	94	83	87		2306	1.6	1	2		87	1,8599	1.2+/-3.3	0,1,4299	no	missense	KIF3C	NM_002254.6	43	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	769/794	26151923	1,13005	2203	4300	6503	SO:0001583	missense	3797				blood coagulation|microtubule-based movement	cytosol|kinesin complex|microtubule	ATP binding|microtubule motor activity	g.chr2:26151923C>T		CCDS1719.1	2p23	2008-02-05			ENSG00000084731	ENSG00000084731		"Kinesins"	6321	protein-coding gene	gene with protein product		602845				9480755	Standard	NM_002254		Approved		uc002rgu.2	O14782	OTTHUMG00000094797	ENST00000264712.3:c.2306G>A	2.37:g.26151923C>T	ENSP00000264712:p.Arg769Gln					KIF3C_ENST00000405914.1_Missense_Mutation_p.R769Q	p.R769Q	NM_002254.6	NP_002245.4	O14782	KIF3C_HUMAN			8	2885	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		769			Globular (Potential).		O43544|Q4ZG18|Q53SX5|Q562F7	Missense_Mutation	SNP	ENST00000264712.3	37	c.2306G>A	CCDS1719.1	.	.	.	.	.	.	.	.	.	.	C	12.71	2.020727	0.35606	0.0	1.16E-4	ENSG00000084731	ENST00000264712;ENST00000542511;ENST00000405914	T;T	0.72394	-0.65;-0.65	5.72	1.56	0.23342	.	0.745034	0.12573	N	0.457110	T	0.46502	0.1396	N	0.14661	0.345	0.23082	N	0.998326	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.22695	-1.0209	10	0.22109	T	0.4	.	3.9001	0.09157	0.2602:0.4697:0.0:0.2702	.	767;769	B7ZM25;O14782	.;KIF3C_HUMAN	Q	769;575;769	ENSP00000264712:R769Q;ENSP00000385030:R769Q	ENSP00000264712:R769Q	R	-	2	0	KIF3C	26005427	1.000000	0.71417	0.999000	0.59377	0.810000	0.45777	1.010000	0.29898	0.370000	0.24538	-0.355000	0.07637	CGG		0.602	KIF3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211611.1			4	62	0	0	0	1	0	4	62					T	26151923	C	T	26151923	3	4	324	1	0	0	0	0	1	0	0	0	8302	652	23	2	79	2	KIF3C	2	26151923	Missense_Mutation	SNP	C	TCGA-KK-A7AW-01A-11D-A32B-08	24880658	26151923	217047450	6	16558											
BMPR2	659	broad.mit.edu	37	chr2	203420161	203420161	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aattcaattaactatgaacgAcagcaagcacaagctcgaat	18	8	6	9	2	1	1	1	1	0	0	2	3	1	1	0	0	5	3	0	0	8	3			TCGA-KK-A7AW-01A-11D-A32B-08	TCGA-KK-A7AW-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a20984a-dea3-4ed4-a100-2b1d193eb825	f746f8be-5ee1-4d6c-9d56-acab7b56ab3b	g.chr2:203420161A>T	ENST00000374580.4	+	12	2312	c.1773A>T	c.(1771-1773)cgA>cgT	p.R591R	BMPR2_ENST00000374574.2_Intron	NM_001204.6	NP_001195.2	Q13873	BMPR2_HUMAN	bone morphogenetic protein receptor, type II (serine/threonine kinase)	591					activin receptor signaling pathway (GO:0032924)|anterior/posterior pattern specification (GO:0009952)|artery development (GO:0060840)|blood vessel remodeling (GO:0001974)|BMP signaling pathway (GO:0030509)|brain development (GO:0007420)|cellular response to starvation (GO:0009267)|chondrocyte development (GO:0002063)|limb development (GO:0060173)|lung alveolus development (GO:0048286)|lymphangiogenesis (GO:0001946)|lymphatic endothelial cell differentiation (GO:0060836)|mesoderm formation (GO:0001707)|negative regulation of cell growth (GO:0030308)|negative regulation of chondrocyte proliferation (GO:1902731)|negative regulation of DNA biosynthetic process (GO:2000279)|negative regulation of systemic arterial blood pressure (GO:0003085)|negative regulation of vasoconstriction (GO:0045906)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of bone mineralization (GO:0030501)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|regulation of cell proliferation (GO:0042127)|regulation of lung blood pressure (GO:0014916)|retina vasculature development in camera-type eye (GO:0061298)|transcription from RNA polymerase II promoter (GO:0006366)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|venous blood vessel development (GO:0060841)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|caveola (GO:0005901)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|fully spanning plasma membrane (GO:0044214)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	activin receptor activity, type II (GO:0016362)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|transforming growth factor beta-activated receptor activity (GO:0005024)			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(11)|lung(7)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(2)	42						ACTATGAACGACAGCAAGCAC	0.458																																						ENST00000374580.4																			0				autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(11)|lung(7)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(2)	42						c.(1771-1773)cgA>cgT		bone morphogenetic protein receptor, type II (serine/threonine kinase)							147	126	133					2																	203420161		2203	4300	6503	SO:0001819	synonymous_variant	659				anterior/posterior pattern formation|BMP signaling pathway|cellular response to starvation|lung alveolus development|mesoderm formation|negative regulation of cell growth|negative regulation of systemic arterial blood pressure|negative regulation of vasoconstriction|positive regulation of BMP signaling pathway|positive regulation of bone mineralization|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of epithelial cell migration|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|regulation of lung blood pressure|transcription from RNA polymerase II promoter|vascular endothelial growth factor receptor signaling pathway	integral to plasma membrane	ATP binding|metal ion binding|transforming growth factor beta receptor activity	g.chr2:203420161A>T	Z48923	CCDS33361.1	2q33-q34	2014-09-17			ENSG00000204217	ENSG00000204217			1078	protein-coding gene	gene with protein product		600799	"primary pulmonary hypertension 1"	PPH1		7791754	Standard	NM_001204		Approved	BRK-3, T-ALK, BMPR3, BMPR-II	uc002uzf.4	Q13873	OTTHUMG00000133617	ENST00000374580.4:c.1773A>T	2.37:g.203420161A>T						BMPR2_ENST00000374574.2_Intron	p.R591R	NM_001204.6	NP_001195.2	Q13873	BMPR2_HUMAN			12	2312	+			591					Q13161|Q16569|Q4ZG08|Q53SA5|Q585T8	Silent	SNP	ENST00000374580.4	37	c.1773A>T	CCDS33361.1																																																																																				0.458	BMPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257743.1	NM_001204		10	50	0	0	0	1	0	10	50					T	203420161	A	T	203420161	2	4	324	1	0	0	0	0	0	0	0	1	1471	262	10	5		5	BMPR2	2	203420161	Silent	SNP	A	TCGA-KK-A7AW-01A-11D-A32B-08	177268238	203420161	39779212	7	16559											
COL4A3	1285	broad.mit.edu	37	chr2	228118887	228118887	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gagcctggacctcctggaccCtcagtaggttatttaaagtt	9	12	10	10	0	1	0	1	0	0	0	2	3	2	2	4	3	1	3	4	3	4	5			TCGA-KK-A7AW-01A-11D-A32B-08	TCGA-KK-A7AW-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a20984a-dea3-4ed4-a100-2b1d193eb825	f746f8be-5ee1-4d6c-9d56-acab7b56ab3b	g.chr2:228118887C>G	ENST00000396578.3	+	14	987	c.825C>G	c.(823-825)ccC>ccG	p.P275P	AC097662.2_ENST00000396588.2_RNA|AC097662.2_ENST00000437673.1_RNA|AC097662.2_ENST00000606119.1_RNA|AC097662.2_ENST00000439598.2_RNA	NM_000091.4	NP_000082.2	Q01955	CO4A3_HUMAN	collagen, type IV, alpha 3 (Goodpasture antigen)	275	Triple-helical region.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|axon guidance (GO:0007411)|blood circulation (GO:0008015)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|collagen catabolic process (GO:0030574)|endothelial cell apoptotic process (GO:0072577)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glomerular basement membrane development (GO:0032836)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell proliferation (GO:0008285)|negative regulation of endopeptidase activity (GO:0010951)|sensory perception of sound (GO:0007605)	basement membrane (GO:0005604)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)|integrin binding (GO:0005178)|metalloendopeptidase inhibitor activity (GO:0008191)|structural molecule activity (GO:0005198)			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247)		Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187)		CTCCTGGACCCTCAGTAGGTT	0.393																																						ENST00000396578.3																			0				NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	55						c.(823-825)ccC>ccG		collagen, type IV, alpha 3 (Goodpasture antigen)							89	98	95					2																	228118887		1886	4097	5983	SO:0001819	synonymous_variant	1285				activation of caspase activity|axon guidance|blood circulation|cell adhesion|cell proliferation|cell surface receptor linked signaling pathway|glomerular basement membrane development|induction of apoptosis|negative regulation of angiogenesis|negative regulation of cell proliferation|sensory perception of sound	collagen type IV	extracellular matrix structural constituent|integrin binding|metalloendopeptidase inhibitor activity	g.chr2:228118887C>G		CCDS42829.1	2q36-q37	2014-09-17			ENSG00000169031	ENSG00000169031		"Collagens"	2204	protein-coding gene	gene with protein product	"tumstatin"	120070				1737849	Standard	NM_000091		Approved		uc002vom.2	Q01955	OTTHUMG00000149891	ENST00000396578.3:c.825C>G	2.37:g.228118887C>G						AC097662.2_ENST00000437673.1_RNA|AC097662.2_ENST00000396588.2_RNA|AC097662.2_ENST00000606119.1_RNA|AC097662.2_ENST00000439598.2_RNA	p.P275P	NM_000091.4	NP_000082.2	Q01955	CO4A3_HUMAN		Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187)	14	987	+		all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247)	275			Triple-helical region.		Q53QQ1|Q53R14|Q53RW8|Q9BQT2|Q9NYC4|Q9UDJ9|Q9UDK9|Q9UDL0|Q9UDL1	Silent	SNP	ENST00000396578.3	37	c.825C>G	CCDS42829.1																																																																																				0.393	COL4A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331409.2	NM_000091		3	52	0	0	0	1	0	3	52					G	228118887	C	G	228118887	2	3	324	1	0	0	0	0	0	0	0	1	3691	668	24	5		5	COL4A3	2	228118887	Silent	SNP	C	TCGA-KK-A7AW-01A-11D-A32B-08	24698726	228118887	15080486	8	16560											
SI	6476	broad.mit.edu	37	chr3	164739052	164739052	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttctccgtcgaatctggatGccaaaaggattttccttgat	9	14	8	10	2	2	1	0	1	2	0	5	4	3	3	3	2	1	0	3	2	3	4			TCGA-KK-A7AW-01A-11D-A32B-08	TCGA-KK-A7AW-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a20984a-dea3-4ed4-a100-2b1d193eb825	f746f8be-5ee1-4d6c-9d56-acab7b56ab3b	g.chr3:164739052G>A	ENST00000264382.3	-	27	3281	c.3219C>T	c.(3217-3219)ggC>ggT	p.G1073G		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	1073	Sucrase.		G -> D (in CSID). {ECO:0000269|PubMed:16329100}.		carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	brush border (GO:0005903)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|oligo-1,6-glucosidase activity (GO:0004574)|sucrose alpha-glucosidase activity (GO:0004575)			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)|Scopolamine(DB00747)	GAATCTGGATGCCAAAAGGAT	0.343										HNSCC(35;0.089)																												ENST00000264382.3																			0				NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218						c.(3217-3219)ggC>ggT		sucrase-isomaltase (alpha-glucosidase)	Acarbose(DB00284)						166	165	166					3																	164739052		2203	4300	6503	SO:0001819	synonymous_variant	6476				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity	g.chr3:164739052G>A	X63597	CCDS3196.1	3q25.2-q26.2	2004-04-06	2004-04-06		ENSG00000090402	ENSG00000090402	3.2.1.10		10856	protein-coding gene	gene with protein product	"Oligosaccharide alpha-1,6-glucosidase"	609845	"sucrase-isomaltase"			2962903, 1353958	Standard	NM_001041		Approved		uc003fei.3	P14410	OTTHUMG00000158065	ENST00000264382.3:c.3219C>T	3.37:g.164739052G>A		HNSCC(35;0.089)					p.G1073G	NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN			27	3281	-		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)	1073		G -> D (in CSID).	Sucrase.		A2RUC3|Q1JQ80|Q1RMC2	Silent	SNP	ENST00000264382.3	37	c.3219C>T	CCDS3196.1																																																																																				0.343	SI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350116.1	NM_001041		57	117	0	0	0	1	0	57	117					A	164739052	G	A	164739052	2	1	324	1	0	0	0	0	0	0	0	1	14297	1306	46	3		3	SI	3	164739052	Silent	SNP	G	TCGA-KK-A7AW-01A-11D-A32B-08		164739052	33283378	9	16561											
STK32B	55351	broad.mit.edu	37	chr4	5500777	5500777	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gggtgcaacaacaacctcctCacccacacctgcacccgtgg	10	5	8	18	1	1	0	1	0	0	0	2	0	2	0	5	2	5	2	5	2	3	0			TCGA-KK-A7AW-01A-11D-A32B-08	TCGA-KK-A7AW-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a20984a-dea3-4ed4-a100-2b1d193eb825	f746f8be-5ee1-4d6c-9d56-acab7b56ab3b	g.chr4:5500777C>T	ENST00000282908.5	+	12	1634	c.1212C>T	c.(1210-1212)ctC>ctT	p.L404L	STK32B_ENST00000512636.1_Silent_p.L327L|STK32B_ENST00000510398.1_Silent_p.L357L|STK32B_ENST00000508728.1_3'UTR	NM_018401.1	NP_060871.1			serine/threonine kinase 32B											breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(16)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	39						ACAACCTCCTCACCCACACCT	0.647																																						ENST00000282908.5																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(16)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	39						c.(1210-1212)ctC>ctT		serine/threonine kinase 32B							144	106	119					4																	5500777		2203	4300	6503	SO:0001819	synonymous_variant	55351						ATP binding|metal ion binding|protein serine/threonine kinase activity	g.chr4:5500777C>T	AJ250839	CCDS3380.1	4p16	2009-09-30			ENSG00000152953	ENSG00000152953			14217	protein-coding gene	gene with protein product						10700184	Standard	XM_005247982		Approved	STKG6, YANK2, STK32, HSA250839	uc003gih.1	Q9NY57	OTTHUMG00000090423	ENST00000282908.5:c.1212C>T	4.37:g.5500777C>T						STK32B_ENST00000510398.1_Silent_p.L357L|STK32B_ENST00000508728.1_3'UTR|STK32B_ENST00000512636.1_Silent_p.L327L	p.L404L	NM_018401.1	NP_060871.1	Q9NY57	ST32B_HUMAN			12	1634	+			404						Silent	SNP	ENST00000282908.5	37	c.1212C>T	CCDS3380.1																																																																																				0.647	STK32B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206854.4	NM_018401		5	17	0	0	0	1	0	5	17					T	5500777	C	T	5500777	2	4	324	1	0	0	0	0	0	0	0	1	15297	813	29	3		3	STK32B	4	5500777	Silent	SNP	C	TCGA-KK-A7AW-01A-11D-A32B-08		5500777	185653499	10	16562											
KIAA1109	84162	broad.mit.edu	37	chr4	123192375	123192375	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cctgtcagtcaataagccagCatgtagatatggctttggtt	10	13	10	8	0	2	1	2	0	0	1	2	1	2	1	2	2	2	4	2	2	4	5			TCGA-KK-A7AW-01A-11D-A32B-08	TCGA-KK-A7AW-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a20984a-dea3-4ed4-a100-2b1d193eb825	f746f8be-5ee1-4d6c-9d56-acab7b56ab3b	g.chr4:123192375C>T	ENST00000264501.4	+	47	8069	c.7696C>T	c.(7696-7698)Cat>Tat	p.H2566Y	KIAA1109_ENST00000388738.3_Missense_Mutation_p.H2566Y|KIAA1109_ENST00000455637.1_Missense_Mutation_p.H2566Y			Q2LD37	K1109_HUMAN	KIAA1109	2566					regulation of cell growth (GO:0001558)|regulation of epithelial cell differentiation (GO:0030856)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						AATAAGCCAGCATGTAGATAT	0.383																																						ENST00000264501.4																			0				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						c.(7696-7698)Cat>Tat		KIAA1109							198	191	193					4																	123192375		1919	4129	6048	SO:0001583	missense	84162				regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus		g.chr4:123192375C>T	AL137384	CCDS43267.1	4q28.1	2012-07-09			ENSG00000138688	ENSG00000138688			26953	protein-coding gene	gene with protein product	"fragile site-associated"	611565				16386706	Standard	NM_015312		Approved	FLJ21404, FSA, KIAA1371, Tweek	uc003ieh.3	Q2LD37	OTTHUMG00000150116	ENST00000264501.4:c.7696C>T	4.37:g.123192375C>T	ENSP00000264501:p.His2566Tyr					KIAA1109_ENST00000455637.1_Missense_Mutation_p.H2566Y|KIAA1109_ENST00000388738.3_Missense_Mutation_p.H2566Y	p.H2566Y			Q2LD37	K1109_HUMAN			47	8069	+			2566					Q4W598|Q5CZA9|Q6ZS70|Q6ZV75|Q86XA5|Q8WVD8|Q9H742|Q9NT48|Q9NTC3|Q9NTI4|Q9P2H6|Q9UPP3	Missense_Mutation	SNP	ENST00000264501.4	37	c.7696C>T	CCDS43267.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.63|19.63	3.863283|3.863283	0.71949|0.71949	.|.	.|.	ENSG00000138688|ENSG00000138688	ENST00000419325|ENST00000264501;ENST00000388738;ENST00000455637	.|T;T;T	.|0.23754	.|2.48;2.48;1.89	5.82|5.82	5.82|5.82	0.92795|0.92795	.|.	.|0.071194	.|0.56097	.|D	.|0.000026	T|T	0.25865|0.25865	0.0630|0.0630	N|N	0.14661|0.14661	0.345|0.345	0.53005|0.53005	D|D	0.999961|0.999961	.|P;P;P	.|0.46912	.|0.65;0.886;0.837	.|B;P;B	.|0.47346	.|0.275;0.544;0.265	T|T	0.04650|0.04650	-1.0936|-1.0936	5|10	.|0.87932	.|D	.|0	.|.	20.0951|20.0951	0.97834|0.97834	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|2566;2565;2566	.|Q2LD37-6;Q2LD37-2;Q2LD37	.|.;.;K1109_HUMAN	V|Y	523|2566	.|ENSP00000264501:H2566Y;ENSP00000373390:H2566Y;ENSP00000389925:H2566Y	.|ENSP00000264501:H2566Y	A|H	+|+	2|1	0|0	KIAA1109|KIAA1109	123411825|123411825	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	7.755000|7.755000	0.85180|0.85180	2.753000|2.753000	0.94483|0.94483	0.467000|0.467000	0.42956|0.42956	GCA|CAT		0.383	KIAA1109-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316415.1	NM_020797		75	171	0	0	0	1	0	75	171					T	123192375	C	T	123192375	3	4	324	1	0	0	0	0	1	0	0	0	8208	710	25	3	7874	3	KIAA1109	4	123192375	Missense_Mutation	SNP	C	TCGA-KK-A7AW-01A-11D-A32B-08	117691598	123192375	67961901	11	16563											
PCDHA9	9752	broad.mit.edu	37	chr5	140229963	140229963	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttccgcgtggggctgtacaCgggcgagatcagcacaacgc	8	6	15	12	5	1	1	1	0	0	1	2	2	2	1	1	3	3	4	1	3	2	2			TCGA-KK-A7AW-01A-11D-A32B-08	TCGA-KK-A7AW-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a20984a-dea3-4ed4-a100-2b1d193eb825	f746f8be-5ee1-4d6c-9d56-acab7b56ab3b	g.chr5:140229963C>T	ENST00000532602.1	+	1	2916	c.1883C>T	c.(1882-1884)aCg>aTg	p.T628M	PCDHA8_ENST00000531613.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA9_ENST00000378122.3_Missense_Mutation_p.T628M|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529619.1_Intron	NM_031857.1	NP_114063.1	Q9Y5H5	PCDA9_HUMAN	protocadherin alpha 9	628	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	59			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGGCTGTACACGGGCGAGATC	0.677																																					Melanoma(55;1800 1972 14909)	ENST00000378122.3																			0				breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	59						c.(1882-1884)aCg>aTg									72	75	74					5																	140229963		2197	4275	6472	SO:0001583	missense	0							g.chr5:140229963C>T	AF152487	CCDS54920.1	5q31	2010-11-26				ENSG00000204961		"Cadherins / Protocadherins : Clustered"	8675	other	complex locus constituent	"KIAA0345-like 5"	606315				10380929	Standard	NM_031857		Approved	KIAA0345, PCDH-ALPHA9		Q9Y5H5		ENST00000532602.1:c.1883C>T	5.37:g.140229963C>T	ENSP00000436042:p.Thr628Met					PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA9_ENST00000532602.1_Missense_Mutation_p.T628M|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron	p.T628M	NM_014005.3	NP_054724.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2607	+								O15053|Q2M3S5	Missense_Mutation	SNP	ENST00000532602.1	37	c.1883C>T	CCDS54920.1	.	.	.	.	.	.	.	.	.	.	C	12.60	1.986258	0.35036	.	.	ENSG00000204961	ENST00000532602;ENST00000378122	T;T	0.58060	0.36;0.36	4.13	4.13	0.48395	Cadherin (4);Cadherin-like (1);	0.000000	0.32488	U	0.006029	T	0.79913	0.4528	H	0.96175	3.78	0.24564	N	0.993955	D;D	0.89917	0.986;1.0	P;D	0.87578	0.819;0.998	T	0.75311	-0.3362	10	0.87932	D	0	.	13.0686	0.59048	0.0:0.7841:0.2159:0.0	.	628;628	Q9Y5H5;Q9Y5H5-2	PCDA9_HUMAN;.	M	628	ENSP00000436042:T628M;ENSP00000367362:T628M	ENSP00000367362:T628M	T	+	2	0	PCDHA9	140210147	0.035000	0.19736	0.965000	0.40720	0.040000	0.13550	0.698000	0.25571	1.982000	0.57802	0.313000	0.20887	ACG		0.677	PCDHA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372896.2	NM_031857		13	56	0	0	0	1	0	13	56					T	140229963	C	T	140229963	3	4	324	1	0	0	0	0	1	0	0	0	11531	536	19	1	1885	1	PCDHA9	5	140229963	Missense_Mutation	SNP	C	TCGA-KK-A7AW-01A-11D-A32B-08		140229963	40685297	12	16564											
PCDHGA8	9708	broad.mit.edu	37	chr5	140774055	140774055	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctggaccagaatgacaacGcgcccgagatcctgtacccc	10	6	10	15	3	0	3	0	1	0	2	1	5	1	4	5	1	3	2	5	1	3	1			TCGA-KK-A7AW-01A-11D-A32B-08	TCGA-KK-A7AW-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a20984a-dea3-4ed4-a100-2b1d193eb825	f746f8be-5ee1-4d6c-9d56-acab7b56ab3b	g.chr5:140774055G>A	ENST00000398604.2	+	1	1675	c.1675G>A	c.(1675-1677)Gcg>Acg	p.A559T	PCDHGA4_ENST00000571252.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA6_ENST00000517434.1_Intron	NM_032088.1	NP_114477.1	Q9Y5G5	PCDG8_HUMAN	protocadherin gamma subfamily A, 8	559	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(6)|kidney(6)|large_intestine(6)|lung(30)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	51			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAATGACAACGCGCCCGAGAT	0.657																																						ENST00000398604.2																			0				endometrium(6)|kidney(6)|large_intestine(6)|lung(30)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	51						c.(1675-1677)Gcg>Acg									105	121	115					5																	140774055		2203	4300	6503	SO:0001583	missense	0							g.chr5:140774055G>A	AF152515	CCDS47291.1, CCDS75338.1	5q31	2010-01-26			ENSG00000253767	ENSG00000253767		"Cadherins / Protocadherins : Clustered"	8706	other	protocadherin		606295				10380929	Standard	NM_014004		Approved	KIAA0327, PCDH-GAMMA-A8		Q9Y5G5	OTTHUMG00000164053	ENST00000398604.2:c.1675G>A	5.37:g.140774055G>A	ENSP00000381605:p.Ala559Thr					PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA6_ENST00000517434.1_Intron	p.A559T	NM_032088.1	NP_114477.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1675	+								A7MCZ4|O15039	Missense_Mutation	SNP	ENST00000398604.2	37	c.1675G>A	CCDS47291.1	.	.	.	.	.	.	.	.	.	.	.	1.721	-0.496727	0.04291	.	.	ENSG00000253767	ENST00000398604	T	0.18016	2.24	4.92	-0.184	0.13280	Cadherin (4);Cadherin conserved site (1);Cadherin-like (1);	0.000000	0.30999	U	0.008448	T	0.12305	0.0299	L	0.55017	1.72	0.09310	N	1	B;B	0.31026	0.106;0.304	B;B	0.26693	0.014;0.072	T	0.15694	-1.0428	10	0.37606	T	0.19	.	4.8413	0.13492	0.4009:0.0:0.4646:0.1345	.	559;559	Q9Y5G5;Q9Y5G5-2	PCDG8_HUMAN;.	T	559	ENSP00000381605:A559T	ENSP00000381605:A559T	A	+	1	0	PCDHGA8	140754239	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-2.099000	0.01346	-0.387000	0.07809	-0.345000	0.07892	GCG		0.657	PCDHGA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376972.1	NM_032088		4	133	0	0	0	1	0	4	133					A	140774055	G	A	140774055	3	1	324	1	0	0	0	0	1	0	0	0	11560	1087	38	1	1677	1	PCDHGA8	5	140774055	Missense_Mutation	SNP	G	TCGA-KK-A7AW-01A-11D-A32B-08	544092	140774055	40141205	13	16565											
NMUR2	56923	broad.mit.edu	37	chr5	151784130	151784130	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	acttgatgccatggatgctgGtgttgggcagggagaagagc	9	9	17	6	0	0	3	0	1	0	2	0	5	0	4	1	4	3	3	1	4	1	2			TCGA-KK-A7AW-01A-11D-A32B-08	TCGA-KK-A7AW-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a20984a-dea3-4ed4-a100-2b1d193eb825	f746f8be-5ee1-4d6c-9d56-acab7b56ab3b	g.chr5:151784130G>T	ENST00000255262.3	-	1	710	c.545C>A	c.(544-546)aCc>aAc	p.T182N	NMUR2_ENST00000518933.1_Intron	NM_020167.4	NP_064552.3	Q9GZQ4	NMUR2_HUMAN	neuromedin U receptor 2	182					activation of phospholipase A2 activity by calcium-mediated signaling (GO:0043006)|arachidonic acid secretion (GO:0050482)|calcium ion transport (GO:0006816)|calcium-mediated signaling (GO:0019722)|cell-cell signaling (GO:0007267)|central nervous system development (GO:0007417)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|feeding behavior (GO:0007631)|grooming behavior (GO:0007625)|inositol phosphate-mediated signaling (GO:0048016)|neuropeptide signaling pathway (GO:0007218)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|reduction of food intake in response to dietary excess (GO:0002023)|regulation of smooth muscle contraction (GO:0006940)|response to pain (GO:0048265)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|GTP binding (GO:0005525)|intracellular calcium activated chloride channel activity (GO:0005229)|neuromedin U binding (GO:0042924)|neuromedin U receptor activity (GO:0001607)			breast(1)|endometrium(1)|kidney(2)|large_intestine(12)|liver(1)|lung(15)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	44		Medulloblastoma(196;0.091)|all_hematologic(541;0.103)	Kidney(363;0.000106)|KIRC - Kidney renal clear cell carcinoma(527;0.000672)			ATGGATGCTGGTGTTGGGCAG	0.607																																						ENST00000255262.3																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(12)|liver(1)|lung(15)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	44						c.(544-546)aCc>aAc		neuromedin U receptor 2							107	110	109					5																	151784130		2203	4300	6503	SO:0001583	missense	56923				activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|arachidonic acid secretion|calcium ion transport|central nervous system development|elevation of cytosolic calcium ion concentration|regulation of smooth muscle contraction	integral to membrane|plasma membrane	GTP binding|intracellular calcium activated chloride channel activity|neuromedin U receptor activity	g.chr5:151784130G>T	AF242874	CCDS4321.1	5q33.1	2012-08-08		2004-05-28	ENSG00000132911	ENSG00000132911		"GPCR / Class A : Neuromedin U receptors"	16454	protein-coding gene	gene with protein product		605108		NMU2R		8940772, 10894543	Standard	NM_020167		Approved		uc003luv.2	Q9GZQ4	OTTHUMG00000130131	ENST00000255262.3:c.545C>A	5.37:g.151784130G>T	ENSP00000255262:p.Thr182Asn					NMUR2_ENST00000518933.1_Intron	p.T182N	NM_020167.4	NP_064552.3	Q9GZQ4	NMUR2_HUMAN	Kidney(363;0.000106)|KIRC - Kidney renal clear cell carcinoma(527;0.000672)		1	710	-		Medulloblastoma(196;0.091)|all_hematologic(541;0.103)	182					Q7LC54|Q96AM5|Q9NRA6	Missense_Mutation	SNP	ENST00000255262.3	37	c.545C>A	CCDS4321.1	.	.	.	.	.	.	.	.	.	.	G	24.4	4.531387	0.85706	.	.	ENSG00000132911	ENST00000255262	T	0.38887	1.11	5.44	5.44	0.79542	GPCR, rhodopsin-like superfamily (1);	0.070582	0.64402	D	0.000017	T	0.70640	0.3247	M	0.90309	3.105	0.58432	D	0.999998	D	0.62365	0.991	D	0.64877	0.93	T	0.77292	-0.2642	10	0.72032	D	0.01	-20.8601	18.2637	0.90044	0.0:0.0:1.0:0.0	.	182	Q9GZQ4	NMUR2_HUMAN	N	182	ENSP00000255262:T182N	ENSP00000255262:T182N	T	-	2	0	NMUR2	151764323	1.000000	0.71417	0.999000	0.59377	0.831000	0.47069	9.507000	0.97996	2.555000	0.86185	0.585000	0.79938	ACC		0.607	NMUR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252439.1	NM_020167		9	79	1	0	1.12685e-05	1	1.23119e-05	9	79					T	151784130	G	T	151784130	3	4	324	1	0	0	0	0	1	0	0	0	10507	1261	44	5	718	5	NMUR2	5	151784130	Missense_Mutation	SNP	G	TCGA-KK-A7AW-01A-11D-A32B-08	11010075	151784130	29131130	14	16566											
GRM6	2916	broad.mit.edu	37	chr5	178410177	178410177	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgttcctcatagtcaatcaCgctgtgtgggggccgggccc	5	10	13	13	2	3	0	3	0	0	0	4	0	4	0	3	3	0	2	3	3	2	2	rs151103990	byFrequency	TCGA-KK-A7AW-01A-11D-A32B-08	TCGA-KK-A7AW-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a20984a-dea3-4ed4-a100-2b1d193eb825	f746f8be-5ee1-4d6c-9d56-acab7b56ab3b	g.chr5:178410177C>T	ENST00000517717.1	-	10	2208	c.2170G>A	c.(2170-2172)Gtg>Atg	p.V724M	GRM6_ENST00000231188.5_Missense_Mutation_p.V724M|RP11-281O15.4_ENST00000519491.1_RNA			O15303	GRM6_HUMAN	glutamate receptor, metabotropic 6	724					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|detection of light stimulus involved in visual perception (GO:0050908)|detection of visible light (GO:0009584)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|locomotory behavior (GO:0007626)|positive regulation of calcium ion import (GO:0090280)|regulation of synaptic transmission, glutamatergic (GO:0051966)|retina development in camera-type eye (GO:0060041)|synaptic transmission (GO:0007268)	cell projection (GO:0042995)|endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|new growing cell tip (GO:0035841)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)|protein homodimerization activity (GO:0042803)			NS(2)|breast(4)|endometrium(9)|large_intestine(12)|lung(21)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	55	all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.245)		TAGTCAATCACGCTGTGTGGG	0.607																																						ENST00000231188.5																			0				NS(2)|breast(4)|endometrium(9)|large_intestine(12)|lung(21)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	55						c.(2170-2172)Gtg>Atg		glutamate receptor, metabotropic 6		C	MET/VAL	1,4405	2.1+/-5.4	0,1,2202	58	49	52		2170	2.6	0.7	5	dbSNP_134	52	9,8591	7.1+/-27.0	0,9,4291	yes	missense	GRM6	NM_000843.3	21	0,10,6493	TT,TC,CC		0.1047,0.0227,0.0769	benign	724/878	178410177	10,12996	2203	4300	6503	SO:0001583	missense	2916				detection of visible light|visual perception	integral to plasma membrane		g.chr5:178410177C>T	U82083	CCDS4442.1	5q35	2014-01-28						"GPCR / Class C : Glutamate receptors, metabotropic", "Glutamate receptors"	4598	protein-coding gene	gene with protein product		604096				9215706	Standard	NM_000843		Approved	GPRC1F, mGlu6, MGLUR6, CSNB1B	uc003mjr.3	O15303	OTTHUMG00000130889	ENST00000517717.1:c.2170G>A	5.37:g.178410177C>T	ENSP00000430767:p.Val724Met					RP11-281O15.4_ENST00000519491.1_RNA|GRM6_ENST00000517717.1_Missense_Mutation_p.V724M	p.V724M	NM_000843.3	NP_000834.2	O15303	GRM6_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.245)	9	2348	-	all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	724						Missense_Mutation	SNP	ENST00000517717.1	37	c.2170G>A	CCDS4442.1	.	.	.	.	.	.	.	.	.	.	C	13.09	2.133924	0.37630	2.27E-4	0.001047	ENSG00000113262	ENST00000231188;ENST00000517717	D;D	0.89123	-2.47;-2.47	5.33	2.58	0.30949	GPCR, family 3, C-terminal (2);	.	.	.	.	D	0.86887	0.6041	L	0.38175	1.15	0.27099	N	0.962676	B;P	0.51351	0.434;0.944	B;P	0.55824	0.165;0.785	T	0.75969	-0.3130	9	0.33940	T	0.23	.	4.3315	0.11066	0.1577:0.5874:0.0:0.2549	.	724;18	O15303;Q5HYM4	GRM6_HUMAN;.	M	724	ENSP00000231188:V724M;ENSP00000430767:V724M	ENSP00000231188:V724M	V	-	1	0	GRM6	178342783	0.406000	0.25344	0.653000	0.29593	0.679000	0.39708	0.879000	0.28146	0.339000	0.23719	0.484000	0.47621	GTG		0.607	GRM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253474.2			14	30	0	0	0	1	0	14	30					T	178410177	C	T	178410177	3	4	324	1	0	0	0	0	1	0	0	0	6801	536	19	1	471	1	GRM6	5	178410177	Missense_Mutation	SNP	C	TCGA-KK-A7AW-01A-11D-A32B-08	26626047	178410177	2505083	15	16567											
PKHD1	5314	broad.mit.edu	37	chr6	51524479	51524479	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgttccccaatagaaaaaagCgcaaaacttgaggagtttga	16	9	9	7	1	0	3	0	2	0	1	1	4	1	4	2	1	2	3	2	1	7	4	rs143915416		TCGA-KK-A7AW-01A-11D-A32B-08	TCGA-KK-A7AW-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a20984a-dea3-4ed4-a100-2b1d193eb825	f746f8be-5ee1-4d6c-9d56-acab7b56ab3b	g.chr6:51524479C>T	ENST00000371117.3	-	61	10720	c.10445G>A	c.(10444-10446)cGc>cAc	p.R3482H		NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	3482			R -> C (in ARPKD). {ECO:0000269|PubMed:12506140, ECO:0000269|PubMed:15108281}.		cellular calcium ion homeostasis (GO:0006874)|cilium assembly (GO:0042384)|homeostatic process (GO:0042592)|kidney development (GO:0001822)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular component movement (GO:0051271)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of cell proliferation (GO:0008284)|regulation of centrosome duplication (GO:0010824)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of TOR signaling (GO:0032006)|single organismal cell-cell adhesion (GO:0016337)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|primary cilium (GO:0072372)	receptor activity (GO:0004872)			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					TAGAAAAAAGCGCAAAACTTG	0.443																																						ENST00000371117.3																			0				NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304						c.(10444-10446)cGc>cAc		polycystic kidney and hepatic disease 1 (autosomal recessive)		C	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	75	77	76		10445	1.8	0.2	6	dbSNP_134	76	1,8599	1.2+/-3.3	0,1,4299	no	missense	PKHD1	NM_138694.3	29	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	benign	3482/4075	51524479	2,13004	2203	4300	6503	SO:0001583	missense	5314				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity	g.chr6:51524479C>T	AF480064	CCDS4935.1, CCDS4936.1	6p21.2-p12	2012-11-26	2003-04-16		ENSG00000170927	ENSG00000170927			9016	protein-coding gene	gene with protein product	"tigmin", "polyductin", "fibrocystin"	606702	"TIG multiple domains 1"	TIGM1		9503014	Standard	NM_138694		Approved	ARPKD, FCYT	uc003pah.1	P08F94	OTTHUMG00000014841	ENST00000371117.3:c.10445G>A	6.37:g.51524479C>T	ENSP00000360158:p.Arg3482His						p.R3482H	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN			61	10720	-	Lung NSC(77;0.0605)		3482		R -> C (in ARPKD).			Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Missense_Mutation	SNP	ENST00000371117.3	37	c.10445G>A	CCDS4935.1	.	.	.	.	.	.	.	.	.	.	C	13.18	2.161462	0.38119	2.27E-4	1.16E-4	ENSG00000170927	ENST00000371117	D	0.94092	-3.35	5.72	1.8	0.24995	.	0.341409	0.25765	N	0.028456	T	0.76615	0.4012	L	0.34521	1.04	0.24433	N	0.99457	B	0.33135	0.399	B	0.20767	0.031	T	0.66508	-0.5906	10	0.42905	T	0.14	.	9.5386	0.39237	0.0:0.7003:0.0:0.2997	.	3482	P08F94	PKHD1_HUMAN	H	3482	ENSP00000360158:R3482H	ENSP00000360158:R3482H	R	-	2	0	PKHD1	51632438	0.980000	0.34600	0.189000	0.23252	0.909000	0.53808	0.967000	0.29344	0.032000	0.15435	0.655000	0.94253	CGC		0.443	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040893.1	NM_138694		22	68	0	0	0	1	0	22	68					T	51524479	C	T	51524479	3	4	324	1	0	0	0	0	1	0	0	0	11971	768	27	1	1807	1	PKHD1	6	51524479	Missense_Mutation	SNP	C	TCGA-KK-A7AW-01A-11D-A32B-08		51524479	119590588	16	16568											
SYNE1	23345	broad.mit.edu	37	chr6	152671420	152671420	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcgacctcttggagctcactGttgtagtcttcatggtcttt	5	17	9	10	1	5	0	2	0	3	0	6	2	5	1	1	2	1	3	1	2	1	5			TCGA-KK-A7AW-01A-11D-A32B-08	TCGA-KK-A7AW-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a20984a-dea3-4ed4-a100-2b1d193eb825	f746f8be-5ee1-4d6c-9d56-acab7b56ab3b	g.chr6:152671420G>A	ENST00000367255.5	-	72	12385	c.11784C>T	c.(11782-11784)aaC>aaT	p.N3928N	SYNE1_ENST00000423061.1_Intron|SYNE1_ENST00000265368.4_Silent_p.N3928N|SYNE1_ENST00000448038.1_Intron|SYNE1_ENST00000341594.5_Silent_p.N3852N	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	3928					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		GGAGCTCACTGTTGTAGTCTT	0.512										HNSCC(10;0.0054)																												ENST00000367255.5																			0				NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524						c.(11782-11784)aaC>aaT		spectrin repeat containing, nuclear envelope 1							110	100	104					6																	152671420		2203	4300	6503	SO:0001819	synonymous_variant	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152671420G>A	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"myocyte nuclear envelope protein 1", "nuclear envelope spectrin repeat-1"	608441	"chromosome 6 open reading frame 98"	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.11784C>T	6.37:g.152671420G>A		HNSCC(10;0.0054)				SYNE1_ENST00000341594.5_Silent_p.N3852N|SYNE1_ENST00000265368.4_Silent_p.N3928N|SYNE1_ENST00000423061.1_Intron|SYNE1_ENST00000448038.1_Intron	p.N3928N	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	72	12385	-		Ovarian(120;0.0955)	3928					E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Silent	SNP	ENST00000367255.5	37	c.11784C>T	CCDS5236.2																																																																																				0.512	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		8	49	0	0	0	1	0	8	49					A	152671420	G	A	152671420	2	1	324	1	0	0	0	0	0	0	0	1	15442	1368	48	3		3	SYNE1	6	152671420	Silent	SNP	G	TCGA-KK-A7AW-01A-11D-A32B-08	101146941	152671420	18443647	17	16569											
TIAM2	26230	broad.mit.edu	37	chr6	155500554	155500554	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttccactaaatgtttatgacGtgcagctcacgaagactggg	11	11	10	9	2	1	2	1	1	0	1	2	3	2	2	1	1	2	3	1	1	4	4			TCGA-KK-A7AW-01A-11D-A32B-08	TCGA-KK-A7AW-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a20984a-dea3-4ed4-a100-2b1d193eb825	f746f8be-5ee1-4d6c-9d56-acab7b56ab3b	g.chr6:155500554G>A	ENST00000461783.3	+	14	3944	c.2671G>A	c.(2671-2673)Gtg>Atg	p.V891M	TIAM2_ENST00000360366.4_Missense_Mutation_p.V915M|TIAM2_ENST00000318981.5_Missense_Mutation_p.V891M|TIAM2_ENST00000367174.2_Missense_Mutation_p.V267M|TIAM2_ENST00000456877.2_Missense_Mutation_p.V203M|TIAM2_ENST00000529824.2_Missense_Mutation_p.V891M|TIAM2_ENST00000456144.1_Missense_Mutation_p.V891M|TIAM2_ENST00000528391.2_Missense_Mutation_p.V227M			Q8IVF5	TIAM2_HUMAN	T-cell lymphoma invasion and metastasis 2	891	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				apoptotic signaling pathway (GO:0097190)|cellular lipid metabolic process (GO:0044255)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	cell projection (GO:0042995)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)|receptor signaling protein activity (GO:0005057)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)		TGTTTATGACGTGCAGCTCAC	0.408																																						ENST00000461783.3																			0				breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65						c.(2671-2673)Gtg>Atg		T-cell lymphoma invasion and metastasis 2							274	267	269					6																	155500554		2203	4300	6503	SO:0001583	missense	26230				apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|filopodium|growth cone|lamellipodium	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity	g.chr6:155500554G>A		CCDS34558.1, CCDS34559.1	6q25	2013-01-10			ENSG00000146426	ENSG00000146426		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	11806	protein-coding gene	gene with protein product		604709				10512681	Standard	NM_012454		Approved	STEF	uc003qqe.3	Q8IVF5	OTTHUMG00000015880	ENST00000461783.3:c.2671G>A	6.37:g.155500554G>A	ENSP00000437188:p.Val891Met					TIAM2_ENST00000360366.4_Missense_Mutation_p.V915M|TIAM2_ENST00000456144.1_Missense_Mutation_p.V891M|TIAM2_ENST00000456877.2_Missense_Mutation_p.V203M|TIAM2_ENST00000367174.2_Missense_Mutation_p.V267M|TIAM2_ENST00000318981.5_Missense_Mutation_p.V891M|TIAM2_ENST00000529824.2_Missense_Mutation_p.V891M|TIAM2_ENST00000528391.2_Missense_Mutation_p.V227M	p.V891M			Q8IVF5	TIAM2_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)	14	3944	+		Ovarian(120;0.196)	891			PDZ.		B2RP56|C9JZV2|Q6NXN9|Q6ZUP9|Q9UFG6|Q9UKV9|Q9UKW0	Missense_Mutation	SNP	ENST00000461783.3	37	c.2671G>A	CCDS34558.1	.	.	.	.	.	.	.	.	.	.	G	16.16	3.044250	0.55110	.	.	ENSG00000146426	ENST00000461783;ENST00000528928;ENST00000528535;ENST00000456144;ENST00000318981;ENST00000367174;ENST00000360366;ENST00000529824;ENST00000456877;ENST00000528391	T;T;T;T;T;T;T;T;T	0.53640	0.61;0.61;0.61;0.61;0.61;0.61;0.61;0.61;0.61	5.09	4.2	0.49525	PDZ/DHR/GLGF (2);	0.191227	0.39083	N	0.001461	T	0.47395	0.1443	L	0.50333	1.59	0.26514	N	0.974549	D;D;D;D	0.67145	0.996;0.994;0.994;0.992	D;P;P;P	0.67548	0.952;0.822;0.822;0.888	T	0.31916	-0.9926	10	0.87932	D	0	.	10.1962	0.43056	0.1507:0.0:0.8493:0.0	.	227;891;915;891	E9PKT1;Q8IVF5-2;Q8IVF5-5;Q8IVF5	.;.;.;TIAM2_HUMAN	M	891;1137;891;891;891;267;915;891;203;227	ENSP00000437188:V891M;ENSP00000434901:V891M;ENSP00000407746:V891M;ENSP00000327315:V891M;ENSP00000356142:V267M;ENSP00000353528:V915M;ENSP00000433348:V891M;ENSP00000407183:V203M;ENSP00000435335:V227M	ENSP00000327315:V891M	V	+	1	0	TIAM2	155542246	0.804000	0.28969	0.846000	0.33378	0.602000	0.36980	1.116000	0.31221	2.537000	0.85549	0.655000	0.94253	GTG		0.408	TIAM2-005	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000387980.2	NM_012454		28	113	0	0	0	1	0	28	113					A	155500554	G	A	155500554	3	1	324	1	0	0	0	0	1	0	0	0	15888	1145	40	1	2705	1	TIAM2	6	155500554	Missense_Mutation	SNP	G	TCGA-KK-A7AW-01A-11D-A32B-08	2829134	155500554	15614513	18	16570											
GPR141	353345	broad.mit.edu	37	chr7	37780567	37780567	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gatagtcatttttgtcatagCcgttgctgtgattctgttgg	6	18	11	6	1	3	1	2	1	1	0	3	2	3	1	1	1	2	3	1	1	2	7			TCGA-KK-A7AW-01A-11D-A32B-08	TCGA-KK-A7AW-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a20984a-dea3-4ed4-a100-2b1d193eb825	f746f8be-5ee1-4d6c-9d56-acab7b56ab3b	g.chr7:37780567C>T	ENST00000447769.1	+	4	861	c.572C>T	c.(571-573)gCc>gTc	p.A191V	GPR141_ENST00000334425.1_Missense_Mutation_p.A191V|EPDR1_ENST00000476620.1_Intron|GPR141_ENST00000461610.1_Intron			Q7Z602	GP141_HUMAN	G protein-coupled receptor 141	191						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(13)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						TTTGTCATAGCCGTTGCTGTG	0.408																																						ENST00000447769.1																			0				NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(13)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(571-573)gCc>gTc		G protein-coupled receptor 141							189	171	177					7																	37780567		2203	4300	6503	SO:0001583	missense	353345					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr7:37780567C>T	AY288420	CCDS5451.1	7p14.1	2012-08-21			ENSG00000187037	ENSG00000187037		"GPCR / Class A : Orphans"	19997	protein-coding gene	gene with protein product		609045				12679517, 14623098	Standard	NM_181791		Approved	PGR13	uc003tfm.1	Q7Z602	OTTHUMG00000102105	ENST00000447769.1:c.572C>T	7.37:g.37780567C>T	ENSP00000390410:p.Ala191Val					GPR141_ENST00000461610.1_Intron|GPR141_ENST00000334425.1_Missense_Mutation_p.A191V|EPDR1_ENST00000476620.1_Intron	p.A191V			Q7Z602	GP141_HUMAN			4	861	+			191					A4D1X7|Q0VAR5|Q86SP3	Missense_Mutation	SNP	ENST00000447769.1	37	c.572C>T	CCDS5451.1	.	.	.	.	.	.	.	.	.	.	C	0.008	-1.932585	0.00488	.	.	ENSG00000187037	ENST00000447769;ENST00000334425	T;T	0.71934	-0.61;-0.61	4.56	3.66	0.41972	GPCR, rhodopsin-like superfamily (1);	0.862509	0.10178	N	0.706280	T	0.56337	0.1978	L	0.27053	0.805	0.27260	N	0.958654	B	0.09022	0.002	B	0.14578	0.011	T	0.50833	-0.8781	10	0.62326	D	0.03	-4.8525	5.7772	0.18285	0.0:0.6802:0.0:0.3198	.	191	Q7Z602	GP141_HUMAN	V	191	ENSP00000390410:A191V;ENSP00000334540:A191V	ENSP00000334540:A191V	A	+	2	0	GPR141	37747092	0.000000	0.05858	0.230000	0.23976	0.131000	0.20780	0.494000	0.22467	1.232000	0.43678	0.655000	0.94253	GCC		0.408	GPR141-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219943.2	NM_181791		6	110	0	0	0	1	0	6	110					T	37780567	C	T	37780567	3	4	324	1	0	0	0	0	1	0	0	0	6649	739	26	3	574	3	GPR141	7	37780567	Missense_Mutation	SNP	C	TCGA-KK-A7AW-01A-11D-A32B-08		37780567	121358096	19	16571											
PTPN12	5782	broad.mit.edu	37	chr7	77256290	77256290	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agatagataaaaaattggaaCgaaatttaagttttgagatt	19	13	8	1	1	0	3	0	1	0	3	0	6	0	4	0	1	1	1	0	1	7	8			TCGA-KK-A7AW-01A-11D-A32B-08	TCGA-KK-A7AW-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a20984a-dea3-4ed4-a100-2b1d193eb825	f746f8be-5ee1-4d6c-9d56-acab7b56ab3b	g.chr7:77256290C>T	ENST00000248594.6	+	13	1566	c.1294C>T	c.(1294-1296)Cga>Tga	p.R432*	PTPN12_ENST00000415482.2_Nonsense_Mutation_p.R313*|PTPN12_ENST00000435495.2_Nonsense_Mutation_p.R302*	NM_002835.3	NP_002826.3	Q05209	PTN12_HUMAN	protein tyrosine phosphatase, non-receptor type 12	432	Interaction with TGFB1I1. {ECO:0000250}.				protein dephosphorylation (GO:0006470)|tissue regeneration (GO:0042246)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)|podosome (GO:0002102)	non-membrane spanning protein tyrosine phosphatase activity (GO:0004726)|SH3 domain binding (GO:0017124)			breast(2)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(12)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	39						AAAATTGGAACGAAATTTAAG	0.338																																						ENST00000248594.6																			0				breast(2)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(12)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	39						c.(1294-1296)Cga>Tga		protein tyrosine phosphatase, non-receptor type 12							38	41	40					7																	77256290		2199	4300	6499	SO:0001587	stop_gained	0					soluble fraction	non-membrane spanning protein tyrosine phosphatase activity|SH3 domain binding	g.chr7:77256290C>T		CCDS5592.1, CCDS47619.1, CCDS47620.1	7q11.23	2011-06-09			ENSG00000127947	ENSG00000127947		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"	9645	protein-coding gene	gene with protein product		600079				7509295	Standard	NM_002835		Approved	PTPG1, PTP-PEST	uc003ugh.2	Q05209	OTTHUMG00000023501	ENST00000248594.6:c.1294C>T	7.37:g.77256290C>T	ENSP00000248594:p.Arg432*					PTPN12_ENST00000435495.2_Nonsense_Mutation_p.R302*|PTPN12_ENST00000415482.2_Nonsense_Mutation_p.R313*	p.R432*	NM_002835.3	NP_002826.3	Q05209	PTN12_HUMAN			13	1566	+			432			Interaction with TGFB1I1 (By similarity).		A4D1C5|B4DKY2|E9PBR5|E9PEH9|Q16130|Q59FD6|Q75MN8|Q86XU4	Nonsense_Mutation	SNP	ENST00000248594.6	37	c.1294C>T	CCDS5592.1	.	.	.	.	.	.	.	.	.	.	C	41	8.751462	0.98939	.	.	ENSG00000127947	ENST00000248594;ENST00000415482;ENST00000543073;ENST00000435495	.	.	.	6.17	6.17	0.99709	.	0.055898	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06236	T	0.91	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	.	.	.	X	432;313;313;302	.	ENSP00000248594:R432X	R	+	1	2	PTPN12	77094226	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.170000	0.58229	2.941000	0.99782	0.655000	0.94253	CGA		0.338	PTPN12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253183.3			3	60	0	0	0	1	0	3	60					T	77256290	C	T	77256290	4	4	324	1	0	0	0	0	0	1	0	0	12781	528	19	1	1344	1	PTPN12	7	77256290	Nonsense_Mutation	SNP	C	TCGA-KK-A7AW-01A-11D-A32B-08	39475723	77256290	81882373	20	16572											
CCDC132	55610	broad.mit.edu	37	chr7	92901950	92901950	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttcttttaattatataggaaCagctggacgtagctctttcc	10	16	7	8	1	2	0	0	0	2	0	3	2	3	2	1	2	3	3	1	2	6	8			TCGA-KK-A7AW-01A-11D-A32B-08	TCGA-KK-A7AW-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a20984a-dea3-4ed4-a100-2b1d193eb825	f746f8be-5ee1-4d6c-9d56-acab7b56ab3b	g.chr7:92901950C>T	ENST00000305866.5	+	11	834	c.706C>T	c.(706-708)Cag>Tag	p.Q236*	CCDC132_ENST00000544910.1_Nonsense_Mutation_p.Q206*|CCDC132_ENST00000317751.6_5'UTR|CCDC132_ENST00000251739.5_Nonsense_Mutation_p.Q236*|CCDC132_ENST00000535481.1_Intron|CCDC132_ENST00000541136.1_Nonsense_Mutation_p.Q47*	NM_017667.3	NP_060137.2	Q96JG6	CC132_HUMAN	coiled-coil domain containing 132	236						extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)				endometrium(1)|large_intestine(2)|lung(5)	8	all_cancers(62;2.64e-11)|all_epithelial(64;1.4e-10)|Breast(17;0.000675)|Lung NSC(181;0.0618)|all_lung(186;0.0837)		STAD - Stomach adenocarcinoma(171;0.000302)			TATATAGGAACAGCTGGACGT	0.328																																						ENST00000544910.1																			0				endometrium(1)|large_intestine(2)|lung(5)	8						c.(616-618)Cag>Tag		coiled-coil domain containing 132							56	56	56					7																	92901950		2203	4297	6500	SO:0001587	stop_gained	55610							g.chr7:92901950C>T	AL833112, AK055965, AL832393	CCDS5630.1, CCDS43617.1, CCDS59065.1	7q21.3	2007-07-23			ENSG00000004766	ENSG00000004766			25956	protein-coding gene	gene with protein product						11347906	Standard	NM_024553		Approved	KIAA1861, FLJ20097, DKFZp313I2429	uc003umo.4	Q96JG6	OTTHUMG00000131733	ENST00000305866.5:c.706C>T	7.37:g.92901950C>T	ENSP00000307666:p.Gln236*					CCDC132_ENST00000541136.1_Nonsense_Mutation_p.Q47*|CCDC132_ENST00000535481.1_Intron|CCDC132_ENST00000317751.6_5'UTR|CCDC132_ENST00000305866.5_Nonsense_Mutation_p.Q236*|CCDC132_ENST00000251739.5_Nonsense_Mutation_p.Q236*	p.Q206*	NM_001257998.1	NP_001244927.1	Q96JG6	CC132_HUMAN	STAD - Stomach adenocarcinoma(171;0.000302)		12	836	+	all_cancers(62;2.64e-11)|all_epithelial(64;1.4e-10)|Breast(17;0.000675)|Lung NSC(181;0.0618)|all_lung(186;0.0837)		236					B3KX22|D1MQ00|F5H5U7|Q75N07|Q8WVK3|Q9H5C6	Nonsense_Mutation	SNP	ENST00000305866.5	37	c.616C>T	CCDS43617.1	.	.	.	.	.	.	.	.	.	.	C	26.6	4.757117	0.89843	.	.	ENSG00000004766	ENST00000251739;ENST00000305866;ENST00000544910;ENST00000541136	.	.	.	5.74	5.74	0.90152	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.09843	T	0.71	-9.0539	20.3116	0.98642	0.0:1.0:0.0:0.0	.	.	.	.	X	236;236;206;47	.	ENSP00000251739:Q236X	Q	+	1	0	CCDC132	92739886	1.000000	0.71417	1.000000	0.80357	0.841000	0.47740	7.770000	0.85390	2.890000	0.99128	0.650000	0.86243	CAG		0.328	CCDC132-019	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341687.1	NM_017667		4	33	0	0	0	1	0	4	33					T	92901950	C	T	92901950	4	4	324	1	0	0	0	0	0	1	0	0	2767	479	17	3	748	3	CCDC132	7	92901950	Nonsense_Mutation	SNP	C	TCGA-KK-A7AW-01A-11D-A32B-08	15645660	92901950	66236713	21	16573											
TMEM209	84928	broad.mit.edu	37	chr7	129841775	129841775	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acagaccttgcagctgagggCtgtaaccagtcatacagctg	11	8	11	11	0	1	2	1	1	0	1	1	2	1	2	2	1	5	5	2	1	2	3			TCGA-KK-A7AW-01A-11D-A32B-08	TCGA-KK-A7AW-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a20984a-dea3-4ed4-a100-2b1d193eb825	f746f8be-5ee1-4d6c-9d56-acab7b56ab3b	g.chr7:129841775C>A	ENST00000397622.2	-	5	610	c.488G>T	c.(487-489)aGc>aTc	p.S163I	TMEM209_ENST00000462753.1_Missense_Mutation_p.S162I|RP11-775D22.3_ENST00000483283.1_RNA|TMEM209_ENST00000336804.8_Missense_Mutation_p.S162I|TMEM209_ENST00000473456.1_Missense_Mutation_p.S163I	NM_032842.3	NP_116231.2	Q96SK2	TM209_HUMAN	transmembrane protein 209	163	Ser-rich.					integral component of membrane (GO:0016021)				NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(2)|skin(1)	12	Melanoma(18;0.0435)					CAGCTGAGGGCTGTAACCAGT	0.517																																						ENST00000397622.2																			0				NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(2)|skin(1)	12						c.(487-489)aGc>aTc		transmembrane protein 209							68	68	68					7																	129841775		2025	4204	6229	SO:0001583	missense	84928					integral to membrane		g.chr7:129841775C>A		CCDS47712.1, CCDS75661.1	7q32.2	2008-02-26			ENSG00000146842	ENSG00000146842			21898	protein-coding gene	gene with protein product						12958361	Standard	NM_032842		Approved	FLJ14803, NET31	uc003vpn.2	Q96SK2	OTTHUMG00000157653	ENST00000397622.2:c.488G>T	7.37:g.129841775C>A	ENSP00000380747:p.Ser163Ile					TMEM209_ENST00000473456.1_Missense_Mutation_p.S163I|RP11-775D22.3_ENST00000483283.1_RNA|TMEM209_ENST00000336804.8_Missense_Mutation_p.S162I|TMEM209_ENST00000462753.1_Missense_Mutation_p.S162I	p.S163I	NM_032842.3	NP_116231.2	Q96SK2	TM209_HUMAN			5	610	-	Melanoma(18;0.0435)		163			Ser-rich.		A4D1L1|Q49A50|Q6PF00|Q8NCH3|Q96SL6	Missense_Mutation	SNP	ENST00000397622.2	37	c.488G>T	CCDS47712.1	.	.	.	.	.	.	.	.	.	.	C	31	5.063244	0.93898	.	.	ENSG00000146842	ENST00000397622;ENST00000462753;ENST00000473456;ENST00000336804;ENST00000484249	T;T;T;T	0.33654	1.4;1.4;1.4;1.4	5.77	5.77	0.91146	.	0.116911	0.85682	D	0.000000	T	0.61211	0.2329	M	0.72118	2.19	0.54753	D	0.999985	D;D;D	0.76494	0.997;0.982;0.999	D;P;D	0.87578	0.994;0.839;0.998	T	0.62863	-0.6764	10	0.87932	D	0	-10.8266	17.1486	0.86772	0.0:1.0:0.0:0.0	.	163;163;163	Q96SK2-3;Q96SK2-4;Q96SK2	.;.;TM209_HUMAN	I	163;162;163;162;163	ENSP00000380747:S163I;ENSP00000419697:S162I;ENSP00000417258:S163I;ENSP00000338388:S162I	ENSP00000338388:S162I	S	-	2	0	TMEM209	129629011	1.000000	0.71417	1.000000	0.80357	0.845000	0.48019	7.273000	0.78527	2.729000	0.93468	0.467000	0.42956	AGC		0.517	TMEM209-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000349339.1	NM_032842		6	26	1	0	8.12818e-05	1	8.71932e-05	6	26					A	129841775	C	A	129841775	3	1	324	1	0	0	0	0	1	0	0	0	16131	797	28	5	1241	5	TMEM209	7	129841775	Missense_Mutation	SNP	C	TCGA-KK-A7AW-01A-11D-A32B-08	36939825	129841775	29296888	22	16574											
RP1	6101	broad.mit.edu	37	chr8	55541086	55541086	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatgattctaagcaaaatagTgaaaaggagaccaatgaagg	19	8	10	4	0	1	4	0	3	1	1	1	5	1	4	1	2	1	1	1	2	9	4	rs199952673	byFrequency	TCGA-KK-A7AW-01A-11D-A32B-08	TCGA-KK-A7AW-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a20984a-dea3-4ed4-a100-2b1d193eb825	f746f8be-5ee1-4d6c-9d56-acab7b56ab3b	g.chr8:55541086T>G	ENST00000220676.1	+	4	4792	c.4644T>G	c.(4642-4644)agT>agG	p.S1548R		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	1548					axoneme assembly (GO:0035082)|cellular response to light stimulus (GO:0071482)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|photoreceptor cell outer segment organization (GO:0035845)|phototransduction, visible light (GO:0007603)|retinal cone cell development (GO:0046549)|retinal rod cell development (GO:0046548)|visual perception (GO:0007601)	axoneme (GO:0005930)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)	microtubule binding (GO:0008017)			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			AGCAAAATAGTGAAAAGGAGA	0.328																																					Colon(91;1014 1389 7634 14542 40420)	ENST00000220676.1																			0				NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169						c.(4642-4644)agT>agG		retinitis pigmentosa 1 (autosomal dominant)																																				SO:0001583	missense	6101				axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding	g.chr8:55541086T>G	AF146592	CCDS6160.1	8q12.1	2013-01-08				ENSG00000104237			10263	protein-coding gene	gene with protein product		603937				1783394	Standard	NM_006269		Approved	DCDC4A	uc003xsd.1	P56715		ENST00000220676.1:c.4644T>G	8.37:g.55541086T>G	ENSP00000220676:p.Ser1548Arg						p.S1548R	NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)		4	4792	+		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	1548						Missense_Mutation	SNP	ENST00000220676.1	37	c.4644T>G	CCDS6160.1	.	.	.	.	.	.	.	.	.	.	T	5.223	0.226567	0.09916	.	.	ENSG00000104237	ENST00000220676	T	0.66099	-0.19	5.75	-4.19	0.03835	.	0.845878	0.10222	N	0.700781	T	0.34454	0.0898	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.17561	-1.0365	10	0.54805	T	0.06	0.3383	1.174	0.01832	0.3215:0.2186:0.086:0.3739	.	1548	P56715	RP1_HUMAN	R	1548	ENSP00000220676:S1548R	ENSP00000220676:S1548R	S	+	3	2	RP1	55703639	0.000000	0.05858	0.023000	0.16930	0.160000	0.22226	-0.555000	0.05999	-0.395000	0.07715	-0.259000	0.10710	AGT		0.328	RP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378532.2	NM_006269		5	53	0	0	0	1	0	5	53					G	55541086	T	G	55541086	3	3	324	1	0	0	0	0	1	0	0	0	13532	1693	59	5	4654	5	RP1	8	55541086	Missense_Mutation	SNP	T	TCGA-KK-A7AW-01A-11D-A32B-08		55541086	90822936	23	16575											
TRPA1	8989	broad.mit.edu	37	chr8	72970018	72970018	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctaatataagtggagagcGtccttcagaatcgatcttat	12	13	9	7	2	2	2	1	0	1	2	4	4	3	2	1	1	2	1	1	1	5	5	rs372548303		TCGA-KK-A7AW-01A-11D-A32B-08	TCGA-KK-A7AW-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a20984a-dea3-4ed4-a100-2b1d193eb825	f746f8be-5ee1-4d6c-9d56-acab7b56ab3b	g.chr8:72970018G>A	ENST00000262209.4	-	9	1234	c.1027C>T	c.(1027-1029)Cgc>Tgc	p.R343C		NM_007332.2	NP_015628.2	O75762	TRPA1_HUMAN	transient receptor potential cation channel, subfamily A, member 1	343					calcium ion transmembrane transport (GO:0070588)|detection of chemical stimulus involved in sensory perception of pain (GO:0050968)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|response to cold (GO:0009409)|response to drug (GO:0042493)|response to hydrogen peroxide (GO:0042542)|response to pain (GO:0048265)|thermoception (GO:0050955)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|stereocilium bundle (GO:0032421)	calcium channel activity (GO:0005262)|channel activity (GO:0015267)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1)	98			Epithelial(68;0.223)		Menthol(DB00825)	AGTGGAGAGCGTCCTTCAGAA	0.343													G|||	1	0.000199681	0	0	5008	,	,		18359	0		0	False		,,,				2504	0.001					ENST00000262209.4																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1)	98						c.(1027-1029)Cgc>Tgc		transient receptor potential cation channel, subfamily A, member 1	Menthol(DB00825)	G	CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	97	96	96		1027	5.5	1	8		96	2,8598	2.2+/-6.3	0,2,4298	no	missense	TRPA1	NM_007332.2	180	0,3,6500	AA,AG,GG		0.0233,0.0227,0.0231	probably-damaging	343/1120	72970018	3,13003	2203	4300	6503	SO:0001583	missense	8989					integral to plasma membrane		g.chr8:72970018G>A	Y10601	CCDS34908.1	8q13	2013-01-10	2003-11-20	2003-11-20	ENSG00000104321	ENSG00000104321		"Voltage-gated ion channels / Transient receptor potential cation channels", "Ankyrin repeat domain containing"	497	protein-coding gene	gene with protein product		604775	"ankyrin-like with transmembrane domains 1"	ANKTM1		16382100	Standard	NM_007332		Approved		uc003xza.3	O75762	OTTHUMG00000164516	ENST00000262209.4:c.1027C>T	8.37:g.72970018G>A	ENSP00000262209:p.Arg343Cys						p.R343C	NM_007332.2	NP_015628.2	O75762	TRPA1_HUMAN	Epithelial(68;0.223)		9	1234	-			343					A6NIN6	Missense_Mutation	SNP	ENST00000262209.4	37	c.1027C>T	CCDS34908.1	.	.	.	.	.	.	.	.	.	.	G	18.76	3.692172	0.68271	2.27E-4	2.33E-4	ENSG00000104321	ENST00000523582;ENST00000262209	T;T	0.66638	-0.22;-0.22	5.54	5.54	0.83059	Ankyrin repeat-containing domain (4);	0.161687	0.56097	D	0.000027	T	0.76140	0.3946	L	0.39566	1.225	0.80722	D	1	D	0.89917	1.0	D	0.70016	0.967	T	0.73959	-0.3818	10	0.38643	T	0.18	-17.217	19.4942	0.95065	0.0:0.0:1.0:0.0	.	343	O75762	TRPA1_HUMAN	C	195;343	ENSP00000428151:R195C;ENSP00000262209:R343C	ENSP00000262209:R343C	R	-	1	0	TRPA1	73132572	1.000000	0.71417	1.000000	0.80357	0.271000	0.26615	5.959000	0.70339	2.602000	0.87976	0.655000	0.94253	CGC		0.343	TRPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379079.2	NM_007332		24	68	0	0	0	1	0	24	68					A	72970018	G	A	72970018	3	1	324	1	0	0	0	0	1	0	0	0	16574	1145	40	1	2408	1	TRPA1	8	72970018	Missense_Mutation	SNP	G	TCGA-KK-A7AW-01A-11D-A32B-08	17428932	72970018	73394004	24	16576											
DMRT2	10655	broad.mit.edu	37	chr9	1053824	1053824	+	Splice_Site	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tggccaaaagcattttagaaGgtaaagcaacaaaattatcc	18	9	7	7	0	0	1	0	0	0	1	1	1	1	1	2	2	3	3	2	2	10	4			TCGA-KK-A7AW-01A-11D-A32B-08	TCGA-KK-A7AW-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a20984a-dea3-4ed4-a100-2b1d193eb825	f746f8be-5ee1-4d6c-9d56-acab7b56ab3b	g.chr9:1053824G>C	ENST00000358146.2	+	2	628	c.628G>C	c.(628-630)Ggc>Cgc	p.G210R	DMRT2_ENST00000412350.2_Splice_Site_p.V210L|DMRT2_ENST00000382255.3_Splice_Site_p.V210L|DMRT2_ENST00000259622.6_Splice_Site_p.V210L|DMRT2_ENST00000382251.3_Splice_Site_p.G210R|DMRT2_ENST00000302441.6_Splice_Site_p.G210R			Q9Y5R5	DMRT2_HUMAN	doublesex and mab-3 related transcription factor 2	210					embryonic skeletal system development (GO:0048706)|positive regulation of myotome development (GO:2000287)|regulation of somitogenesis (GO:0014807)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			large_intestine(1)|lung(1)|prostate(2)	4		all_lung(10;1.49e-09)|Lung NSC(10;1.86e-09)		Lung(218;0.0195)|GBM - Glioblastoma multiforme(50;0.0388)		CATTTTAGAAGGTAAAGCAAC	0.413																																						ENST00000259622.6																			0				large_intestine(1)|lung(1)|prostate(2)	4						c.e2+1		doublesex and mab-3 related transcription factor 2							58	61	60					9																	1053824		2203	4300	6503	SO:0001630	splice_region_variant	10655				male gonad development|sex determination	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity	g.chr9:1053824G>C	AF130729	CCDS6444.1, CCDS6445.1	9p24.3	2008-07-21			ENSG00000173253	ENSG00000173253			2935	protein-coding gene	gene with protein product	"terra-like protein"	604935				10332030	Standard	NM_181872		Approved		uc003zha.3	Q9Y5R5	OTTHUMG00000019437	ENST00000358146.2:c.628+1G>C	9.37:g.1053824G>C						DMRT2_ENST00000302441.6_Splice_Site_p.G210_splice|DMRT2_ENST00000382255.3_Splice_Site_p.V210_splice|DMRT2_ENST00000358146.2_Splice_Site_p.G210_splice|DMRT2_ENST00000412350.2_Splice_Site_p.V210_splice|DMRT2_ENST00000382251.3_Splice_Site_p.G210_splice	p.V210_splice			Q9Y5R5	DMRT2_HUMAN		Lung(218;0.0195)|GBM - Glioblastoma multiforme(50;0.0388)	2	628	+		all_lung(10;1.49e-09)|Lung NSC(10;1.86e-09)	0					B1ANC0|B9EGJ1|Q9NPG6|Q9NQR6	Splice_Site	SNP	ENST00000358146.2	37	c.628_splice	CCDS6444.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	28.8|28.8	4.953781|4.953781	0.92660|0.92660	.|.	.|.	ENSG00000173253|ENSG00000173253	ENST00000382251;ENST00000302441;ENST00000358146|ENST00000382255;ENST00000412350;ENST00000259622	T;T;T|T;T;T	0.32272|0.44881	1.46;1.46;1.46|0.91;0.91;0.91	5.72|5.72	5.72|5.72	0.89469|0.89469	.|.	0.229124|.	0.34531|.	N|.	0.003890|.	T|T	0.45256|0.45256	0.1333|0.1333	M|M	0.67397|0.67397	2.05|2.05	0.80722|0.80722	D|D	1|1	D;D|P	0.89917|0.36027	1.0;1.0|0.533	D;D|B	0.97110|0.31946	0.999;1.0|0.138	T|T	0.47548|0.47548	-0.9109|-0.9109	10|9	0.62326|0.54805	D|T	0.03|0.06	-20.8782|-20.8782	19.4782|19.4782	0.94998|0.94998	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	210;54|210	Q9Y5R5;Q5HYK2|Q05C20	DMRT2_HUMAN;.|.	R|L	210|210	ENSP00000371686:G210R;ENSP00000305785:G210R;ENSP00000350865:G210R|ENSP00000371690:V210L;ENSP00000397494:V210L;ENSP00000259622:V210L	ENSP00000305785:G210R|ENSP00000259622:V210L	G|V	+|+	1|1	0|0	DMRT2|DMRT2	1043824|1043824	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.987000|0.987000	0.75469|0.75469	9.526000|9.526000	0.98042|0.98042	2.692000|2.692000	0.91855|0.91855	0.555000|0.555000	0.69702|0.69702	GGC|GTT		0.413	DMRT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051492.1	NM_006557	Missense_Mutation	7	36	0	0	0	1	0	7	36					C	1053824	G	C	1053824	5	2	324	1	0	0	0	0	0	0	1	0	4586	1014	35	5	634	5	DMRT2	9	1053824	Splice_Site	SNP	G	TCGA-KK-A7AW-01A-11D-A32B-08		1053824	140159607	25	16577											
GCNT1	2650	broad.mit.edu	37	chr9	79117782	79117782	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cacaaaatccgaggattcctAtttagctgcagtgatgggca	12	10	10	9	1	0	1	0	1	0	0	2	3	2	2	2	2	2	3	2	2	4	4			TCGA-KK-A7AW-01A-11D-A32B-08	TCGA-KK-A7AW-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a20984a-dea3-4ed4-a100-2b1d193eb825	f746f8be-5ee1-4d6c-9d56-acab7b56ab3b	g.chr9:79117782A>T	ENST00000376730.4	+	4	968	c.485A>T	c.(484-486)tAt>tTt	p.Y162F	GCNT1_ENST00000536223.1_Missense_Mutation_p.Y162F|GCNT1_ENST00000442371.1_Missense_Mutation_p.Y162F|GCNT1_ENST00000444201.2_Missense_Mutation_p.Y162F	NM_001097636.1|NM_001490.4	NP_001091105.1|NP_001481.2	Q02742	GCNT1_HUMAN	glucosaminyl (N-acetyl) transferase 1, core 2	162	Catalytic. {ECO:0000250}.				cell adhesion molecule production (GO:0060352)|cellular protein metabolic process (GO:0044267)|glycoprotein biosynthetic process (GO:0009101)|kidney morphogenesis (GO:0060993)|leukocyte tethering or rolling (GO:0050901)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to insulin (GO:0032868)|tissue morphogenesis (GO:0048729)	extracellular space (GO:0005615)|Golgi cisterna (GO:0031985)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|trans-Golgi network (GO:0005802)	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity (GO:0003829)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(11)|prostate(2)|urinary_tract(1)	30						GAGGATTCCTATTTAGCTGCA	0.468																																						ENST00000442371.1																			0				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(11)|prostate(2)|urinary_tract(1)	30						c.(484-486)tAt>tTt		glucosaminyl (N-acetyl) transferase 1, core 2							73	74	74					9																	79117782		2203	4300	6503	SO:0001583	missense	2650				protein O-linked glycosylation	Golgi membrane|integral to membrane	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity	g.chr9:79117782A>T	L41415	CCDS6653.1	9q13	2013-02-25	2010-03-16		ENSG00000187210	ENSG00000187210	2.4.1.102	"Glucosaminyl (N-acetyl) transferase and xylosyltransferase family"	4203	protein-coding gene	gene with protein product	"core 2 beta1,6 N-acetylglucosaminyltransferase-I", "beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N--acetylglucosaminyltransferase"	600391	"glucosaminyl (N-acetyl) transferase 1, core 2 (beta-1,6-N-acetylglucosaminyltransferase)"	NACGT2		8449405, 9915862	Standard	NM_001490		Approved	C2GNT, NAGCT2	uc004akf.4	Q02742	OTTHUMG00000020044	ENST00000376730.4:c.485A>T	9.37:g.79117782A>T	ENSP00000365920:p.Tyr162Phe					GCNT1_ENST00000444201.2_Missense_Mutation_p.Y162F|GCNT1_ENST00000376730.4_Missense_Mutation_p.Y162F|GCNT1_ENST00000536223.1_Missense_Mutation_p.Y162F	p.Y162F	NM_001097634.1	NP_001091103.1	Q02742	GCNT1_HUMAN			3	1424	+			162			Catalytic (By similarity).		Q6DJZ4	Missense_Mutation	SNP	ENST00000376730.4	37	c.485A>T	CCDS6653.1	.	.	.	.	.	.	.	.	.	.	a	0.568	-0.842351	0.02671	.	.	ENSG00000187210	ENST00000536223;ENST00000442371;ENST00000444201;ENST00000376730	T;T;T;T	0.09630	2.96;2.96;2.96;2.96	6.07	4.93	0.64822	.	0.171822	0.51477	N	0.000087	T	0.02610	0.0079	N	0.00246	-1.78	0.26364	N	0.976994	B	0.02656	0.0	B	0.01281	0.0	T	0.38585	-0.9654	9	.	.	.	.	12.5152	0.56028	0.1294:0.0:0.0:0.8705	.	162	Q02742	GCNT1_HUMAN	F	162	ENSP00000440883:Y162F;ENSP00000415454:Y162F;ENSP00000390703:Y162F;ENSP00000365920:Y162F	.	Y	+	2	0	GCNT1	78307602	0.992000	0.36948	0.674000	0.29902	0.631000	0.37964	2.710000	0.47169	1.102000	0.41551	-0.339000	0.08088	TAT		0.468	GCNT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052725.1	NM_001097634		4	96	0	0	0	1	0	4	96					T	79117782	A	T	79117782	3	4	324	1	0	0	0	0	1	0	0	0	6300	449	16	5	487	5	GCNT1	9	79117782	Missense_Mutation	SNP	A	TCGA-KK-A7AW-01A-11D-A32B-08	78063958	79117782	62095649	26	16578											
RALGDS	5900	broad.mit.edu	37	chr9	135983422	135983422	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	caccagatctggagggaacaCcaagaggtgaggcttctcct	11	7	12	11	0	2	3	0	1	2	2	3	5	2	5	3	4	1	1	3	4	2	1			TCGA-KK-A7AW-01A-11D-A32B-08	TCGA-KK-A7AW-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a20984a-dea3-4ed4-a100-2b1d193eb825	f746f8be-5ee1-4d6c-9d56-acab7b56ab3b	g.chr9:135983422C>A	ENST00000372050.3	-	6	1171	c.1150G>T	c.(1150-1152)Gtg>Ttg	p.V384L	RALGDS_ENST00000393157.3_Missense_Mutation_p.V383L|RALGDS_ENST00000542690.1_Missense_Mutation_p.V455L|RALGDS_ENST00000393160.3_Missense_Mutation_p.V329L|RALGDS_ENST00000372062.3_Missense_Mutation_p.V355L|RALGDS_ENST00000372047.3_Missense_Mutation_p.V372L|RALGDS_ENST00000469972.1_5'UTR	NM_006266.2	NP_006257.1	Q12967	GNDS_HUMAN	ral guanine nucleotide dissociation stimulator	384					neurotrophin TRK receptor signaling pathway (GO:0048011)|Ras protein signal transduction (GO:0007265)|regulation of catalytic activity (GO:0050790)|regulation of small GTPase mediated signal transduction (GO:0051056)	cytosol (GO:0005829)	guanyl-nucleotide exchange factor activity (GO:0005085)|small GTPase regulator activity (GO:0005083)			endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)	10				OV - Ovarian serous cystadenocarcinoma(145;3.66e-06)|Epithelial(140;2.77e-05)		GGAGGGAACACCAAGAGGTGA	0.592			T	CIITA	"PMBL, Hodgkin Lymphona, "																																Melanoma(189;762 2088 15384 21931 52515)	ENST00000393160.3				Dom	yes		9	9q34.3	5900	T	ral guanine nucleotide dissociation stimulator			L	CIITA		"PMBL, Hodgkin Lymphona, "		0				endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)	10						c.(985-987)Gtg>Ttg		ral guanine nucleotide dissociation stimulator							95	79	85					9																	135983422		2203	4300	6503	SO:0001583	missense	5900				nerve growth factor receptor signaling pathway|Ras protein signal transduction|regulation of small GTPase mediated signal transduction	cytosol	Ral guanyl-nucleotide exchange factor activity	g.chr9:135983422C>A	AB037729	CCDS6959.1, CCDS43897.1, CCDS65172.1, CCDS65173.1, CCDS65174.1	9q34.3	2009-04-08			ENSG00000160271	ENSG00000160271			9842	protein-coding gene	gene with protein product		601619				7972015	Standard	NM_006266		Approved	RGF, RalGEF, RGDS	uc004ccr.3	Q12967	OTTHUMG00000020858	ENST00000372050.3:c.1150G>T	9.37:g.135983422C>A	ENSP00000361120:p.Val384Leu					RALGDS_ENST00000542690.1_Missense_Mutation_p.V455L|RALGDS_ENST00000372050.3_Missense_Mutation_p.V384L|RALGDS_ENST00000372062.3_Missense_Mutation_p.V355L|RALGDS_ENST00000372047.3_Missense_Mutation_p.V372L|RALGDS_ENST00000393157.3_Missense_Mutation_p.V383L|RALGDS_ENST00000469972.1_5'UTR	p.V329L	NM_001042368.1	NP_001035827.1	Q12967	GNDS_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;3.66e-06)|Epithelial(140;2.77e-05)	6	1338	-			384					B7Z753|E7ER93|E7ERZ0|Q5T7V4|Q6KH11|Q6PCE1|Q6ZSD5|Q9HAX7|Q9HAY1|Q9HCT1|Q9P2N8	Missense_Mutation	SNP	ENST00000372050.3	37	c.985G>T	CCDS6959.1	.	.	.	.	.	.	.	.	.	.	C	12.65	2.002389	0.35320	.	.	ENSG00000160271	ENST00000372050;ENST00000372047;ENST00000393160;ENST00000372051;ENST00000393157;ENST00000542690;ENST00000372062;ENST00000424572	T;T;T;T;T;T;T	0.27720	1.65;1.65;1.65;1.65;1.65;1.65;1.65	5.39	-1.09	0.09904	Guanine-nucleotide dissociation stimulator CDC25 (1);Ras guanine nucleotide exchange factor, domain (1);	1.578220	0.03664	N	0.242958	T	0.15219	0.0367	N	0.11927	0.2	0.09310	N	1	B;B;B;B;B;B;B;B	0.15719	0.001;0.003;0.014;0.001;0.0;0.001;0.004;0.002	B;B;B;B;B;B;B;B	0.20577	0.001;0.005;0.025;0.03;0.004;0.003;0.007;0.007	T	0.11591	-1.0581	10	0.25751	T	0.34	.	0.4229	0.00459	0.1987:0.2885:0.2247:0.2881	.	455;355;384;372;329;383;372;384	F5H6M6;E7ER93;Q12967-2;Q8TEK9;Q6KH11;E7ERZ0;Q6PCE1;Q12967	.;.;.;.;.;.;.;GNDS_HUMAN	L	384;372;329;153;383;455;355;16	ENSP00000361120:V384L;ENSP00000361117:V372L;ENSP00000376867:V329L;ENSP00000376864:V383L;ENSP00000437518:V455L;ENSP00000361132:V355L;ENSP00000391814:V16L	ENSP00000361117:V372L	V	-	1	0	RALGDS	134973243	0.036000	0.19791	0.000000	0.03702	0.696000	0.40369	0.251000	0.18257	-0.528000	0.06366	0.655000	0.94253	GTG		0.592	RALGDS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000054837.1	NM_006266		12	41	1	0	4.3838e-07	1	4.88008e-07	12	41					A	135983422	C	A	135983422	3	1	324	1	0	0	0	0	1	0	0	0	13016	507	18	5	1646	5	RALGDS	9	135983422	Missense_Mutation	SNP	C	TCGA-KK-A7AW-01A-11D-A32B-08	56865640	135983422	5230009	27	16579											
CUBN	8029	broad.mit.edu	37	chr10	16941092	16941092	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacttttgtgagtaatggccGtccaggaacatctgctgttt	8	15	10	8	1	1	1	0	1	1	0	2	2	2	2	2	2	3	3	2	2	3	5	rs144422027		TCGA-KK-A7AW-01A-11D-A32B-08	TCGA-KK-A7AW-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a20984a-dea3-4ed4-a100-2b1d193eb825	f746f8be-5ee1-4d6c-9d56-acab7b56ab3b	g.chr10:16941092G>A	ENST00000377833.4	-	54	8566	c.8501C>T	c.(8500-8502)aCg>aTg	p.T2834M		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	2834	CUB 21. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cholesterol metabolic process (GO:0008203)|cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|tissue homeostasis (GO:0001894)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|cobalamin binding (GO:0031419)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)|transporter activity (GO:0005215)			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	AGTAATGGCCGTCCAGGAACA	0.428																																						ENST00000377833.4																			0				breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241						c.(8500-8502)aCg>aTg		cubilin (intrinsic factor-cobalamin receptor)	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	G	MET/THR	0,4406		0,0,2203	161	147	151		8501	4.7	1	10	dbSNP_134	151	1,8599	1.2+/-3.3	0,1,4299	no	missense	CUBN	NM_001081.3	81	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	2834/3624	16941092	1,13005	2203	4300	6503	SO:0001583	missense	8029				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity	g.chr10:16941092G>A	AF034611	CCDS7113.1	10p12	2014-09-17			ENSG00000107611	ENSG00000107611			2548	protein-coding gene	gene with protein product		602997		MGA1		9572993, 9478979	Standard	NM_001081		Approved	IFCR, gp280	uc001ioo.3	O60494	OTTHUMG00000017741	ENST00000377833.4:c.8501C>T	10.37:g.16941092G>A	ENSP00000367064:p.Thr2834Met						p.T2834M	NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN			54	8566	-			2834			CUB 21.		B0YIZ4|Q5VTA6|Q96RU9	Missense_Mutation	SNP	ENST00000377833.4	37	c.8501C>T	CCDS7113.1	.	.	.	.	.	.	.	.	.	.	G	14.75	2.629520	0.46944	0.0	1.16E-4	ENSG00000107611	ENST00000377833	T	0.32272	1.46	5.63	4.73	0.59995	CUB (5);	0.430897	0.19808	N	0.105582	T	0.50411	0.1614	M	0.88241	2.94	0.80722	D	1	D	0.58268	0.982	P	0.49999	0.628	T	0.59337	-0.7473	10	0.37606	T	0.19	.	15.1293	0.72511	0.068:0.0:0.932:0.0	.	2834	O60494	CUBN_HUMAN	M	2834	ENSP00000367064:T2834M	ENSP00000367064:T2834M	T	-	2	0	CUBN	16981098	1.000000	0.71417	0.999000	0.59377	0.435000	0.31806	3.711000	0.54868	1.537000	0.49254	-0.215000	0.12644	ACG		0.428	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047009.1	NM_001081		4	99	0	0	0	1	0	4	99					A	16941092	G	A	16941092	3	1	324	1	0	0	0	0	1	0	0	0	4051	1145	40	1	2426	1	CUBN	10	16941092	Missense_Mutation	SNP	G	TCGA-KK-A7AW-01A-11D-A32B-08		16941092	118593655	28	16580											
ANKRD26	22852	broad.mit.edu	37	chr10	27324252	27324252	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	attcattttgtcctgtaaacGagaacattcatctcttgctc	10	16	5	10	1	3	1	2	0	1	1	6	2	4	1	1	0	3	2	1	0	3	6			TCGA-KK-A7AW-01A-11D-A32B-08	TCGA-KK-A7AW-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a20984a-dea3-4ed4-a100-2b1d193eb825	f746f8be-5ee1-4d6c-9d56-acab7b56ab3b	g.chr10:27324252G>C	ENST00000376087.4	-	24	3292	c.3127C>G	c.(3127-3129)Cgt>Ggt	p.R1043G	ANKRD26_ENST00000436985.2_Missense_Mutation_p.R1059G|ANKRD26_ENST00000376070.3_Missense_Mutation_p.R600G	NM_001256053.1|NM_014915.2	NP_001242982.1|NP_055730.2	Q9UPS8	ANR26_HUMAN	ankyrin repeat domain 26	1042					glucose homeostasis (GO:0042593)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of organ growth (GO:0046621)|regulation of fatty acid metabolic process (GO:0019217)|regulation of feeding behavior (GO:0060259)	actin filament (GO:0005884)|centrosome (GO:0005813)				breast(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|urinary_tract(2)	70						TCCTGTAAACGAGAACATTCA	0.348																																						ENST00000376087.4																			0				breast(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|urinary_tract(2)	70						c.(3127-3129)Cgt>Ggt		ankyrin repeat domain 26							120	110	113					10																	27324252		1872	4096	5968	SO:0001583	missense	22852					centrosome		g.chr10:27324252G>C	AB028997	CCDS41499.1	10p12.1	2014-09-17			ENSG00000107890	ENSG00000107890		"Ankyrin repeat domain containing"	29186	protein-coding gene	gene with protein product		610855	"thrombocytopenia 2 (autosomal dominant)"	THC2		10470851, 21211618	Standard	NM_014915		Approved	KIAA1074	uc009xku.1	Q9UPS8	OTTHUMG00000017851	ENST00000376087.4:c.3127C>G	10.37:g.27324252G>C	ENSP00000365255:p.Arg1043Gly					ANKRD26_ENST00000436985.2_Missense_Mutation_p.R1059G|ANKRD26_ENST00000376070.3_Missense_Mutation_p.R600G	p.R1043G	NM_001256053.1|NM_014915.2	NP_001242982.1|NP_055730.2	Q9UPS8	ANR26_HUMAN			24	3292	-			1042					A6NH29|Q2TAZ3|Q6ZR14|Q9H1Q1|Q9NSK9|Q9NTD5|Q9NW69	Missense_Mutation	SNP	ENST00000376087.4	37	c.3127C>G	CCDS41499.1	.	.	.	.	.	.	.	.	.	.	G	8.200	0.798035	0.16327	.	.	ENSG00000107890	ENST00000376070;ENST00000376087;ENST00000436985	T;T;T	0.15372	2.43;2.43;2.43	5.7	0.337	0.15966	.	0.225081	0.30003	N	0.010642	T	0.14270	0.0345	M	0.64404	1.975	0.09310	N	1	P;P;B	0.41524	0.753;0.638;0.028	B;B;B	0.39876	0.312;0.165;0.016	T	0.12837	-1.0532	10	0.45353	T	0.12	.	2.6238	0.04924	0.1627:0.263:0.4392:0.1352	.	1043;1042;1059	Q9UPS8-3;Q9UPS8;A1L497	.;ANR26_HUMAN;.	G	600;1043;1059	ENSP00000365238:R600G;ENSP00000365255:R1043G;ENSP00000405112:R1059G	ENSP00000365238:R600G	R	-	1	0	ANKRD26	27364258	0.061000	0.20836	0.000000	0.03702	0.022000	0.10575	2.115000	0.41921	-0.201000	0.10284	0.591000	0.81541	CGT		0.348	ANKRD26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047296.1			36	72	0	0	0	1	0	36	72					C	27324252	G	C	27324252	3	2	324	1	0	0	0	0	1	0	0	0	654	1058	37	5	2049	5	ANKRD26	10	27324252	Missense_Mutation	SNP	G	TCGA-KK-A7AW-01A-11D-A32B-08	10383160	27324252	108210495	29	16581											
ERCC6	2074	broad.mit.edu	37	chr10	50740946	50740946	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tttcttcattattactgacaGgttgactctgtaaacagtct	10	17	6	8	0	4	2	1	2	3	0	4	2	4	2	0	1	2	2	0	1	4	6			TCGA-KK-A7AW-01A-11D-A32B-08	TCGA-KK-A7AW-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a20984a-dea3-4ed4-a100-2b1d193eb825	f746f8be-5ee1-4d6c-9d56-acab7b56ab3b	g.chr10:50740946G>C	ENST00000355832.5	-	2	143	c.65C>G	c.(64-66)cCt>cGt	p.P22R	PGBD3_ENST00000603152.1_Missense_Mutation_p.P22R|ERCC6-PGBD3_ENST00000447839.2_Missense_Mutation_p.P22R|ERCC6-PGBD3_ENST00000515869.1_Missense_Mutation_p.P22R	NM_000124.2	NP_000115.1	Q03468	ERCC6_HUMAN	excision repair cross-complementation group 6	22					activation of JNKK activity (GO:0007256)|activation of JUN kinase activity (GO:0007257)|ATP catabolic process (GO:0006200)|base-excision repair (GO:0006284)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|multicellular organism growth (GO:0035264)|nucleotide-excision repair (GO:0006289)|photoreceptor cell maintenance (GO:0045494)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|positive regulation of protein tyrosine kinase activity (GO:0061098)|pyrimidine dimer repair (GO:0006290)|regulation of DNA-templated transcription, elongation (GO:0032784)|response to gamma radiation (GO:0010332)|response to oxidative stress (GO:0006979)|response to superoxide (GO:0000303)|response to toxic substance (GO:0009636)|response to UV (GO:0009411)|response to UV-B (GO:0010224)|response to X-ray (GO:0010165)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase II promoter (GO:0006366)|transcription-coupled nucleotide-excision repair (GO:0006283)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|protein N-terminus binding (GO:0047485)|protein tyrosine kinase activator activity (GO:0030296)			breast(5)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						ATTACTGACAGGTTGACTCTG	0.448								Direct reversal of damage;Nucleotide excision repair (NER)																														ENST00000355832.5																			0				breast(5)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						c.(64-66)cCt>cGt	Direct reversal of damage;Nucleotide excision repair (NER)	excision repair cross-complementing rodent repair deficiency, complementation group 6							151	132	139					10																	50740946		2203	4300	6503	SO:0001583	missense	2074				base-excision repair|positive regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair	nucleolus|soluble fraction|transcription elongation factor complex	ATP binding|chromatin binding|DNA binding|DNA-dependent ATPase activity|helicase activity|protein C-terminus binding|protein complex binding|protein N-terminus binding	g.chr10:50740946G>C	L04791	CCDS7229.1	10q11	2014-09-17	2014-03-07		ENSG00000225830	ENSG00000225830			3438	protein-coding gene	gene with protein product	"Cockayne syndrome B protein"	609413	"excision repair cross-complementing rodent repair deficiency, complementation group 6"	CKN2		1339317, 19179336	Standard	NM_000124		Approved	CSB, RAD26, ARMD5	uc001jhs.5	Q03468	OTTHUMG00000018195	ENST00000355832.5:c.65C>G	10.37:g.50740946G>C	ENSP00000348089:p.Pro22Arg					ERCC6-PGBD3_ENST00000515869.1_Missense_Mutation_p.P22R|PGBD3_ENST00000603152.1_Missense_Mutation_p.P22R|ERCC6-PGBD3_ENST00000447839.2_Missense_Mutation_p.P22R	p.P22R	NM_000124.2	NP_000115.1	Q03468	ERCC6_HUMAN			2	143	-			22					D3DX94|Q5W0L9	Missense_Mutation	SNP	ENST00000355832.5	37	c.65C>G	CCDS7229.1	.	.	.	.	.	.	.	.	.	.	G	9.763	1.170571	0.21621	.	.	ENSG00000225830;ENSG00000225830;ENSG00000258838;ENSG00000258838	ENST00000355832;ENST00000462247;ENST00000515869;ENST00000447839	D;T;T;T	0.81996	-1.56;1.01;3.47;3.47	5.8	-11.6	0.00059	.	.	.	.	.	T	0.55369	0.1916	N	0.08118	0	0.09310	N	1	B;B	0.20368	0.044;0.0	B;B	0.14578	0.011;0.0	T	0.45323	-0.9269	9	0.25106	T	0.35	15.0199	4.169	0.10320	0.1221:0.0854:0.3128:0.4797	.	22;22	E7EV46;Q03468	.;ERCC6_HUMAN	R	22	ENSP00000348089:P22R;ENSP00000422827:P22R;ENSP00000423550:P22R;ENSP00000387966:P22R	ENSP00000348089:P22R	P	-	2	0	ERCC6;RP11-123B3.6	50410952	0.000000	0.05858	0.000000	0.03702	0.394000	0.30568	-3.787000	0.00366	-3.228000	0.00210	-0.457000	0.05445	CCT		0.448	ERCC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047990.1	NM_000124		4	61	0	0	0	1	0	4	61					C	50740946	G	C	50740946	3	2	324	1	0	0	0	0	1	0	0	0	5217	1000	35	5	4496	5	ERCC6	10	50740946	Missense_Mutation	SNP	G	TCGA-KK-A7AW-01A-11D-A32B-08	23416694	50740946	84793801	30	16582											
C10orf99	387695	broad.mit.edu	37	chr10	85936271	85936271	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaaggcctggtcaggcaggAgaaccaggctctgctgccac	9	5	13	14	0	2	1	1	0	1	1	2	2	2	1	4	5	3	3	4	5	2	0			TCGA-KK-A7AW-01A-11D-A32B-08	TCGA-KK-A7AW-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a20984a-dea3-4ed4-a100-2b1d193eb825	f746f8be-5ee1-4d6c-9d56-acab7b56ab3b	g.chr10:85936271A>G	ENST00000372126.3	+	2	220	c.106A>G	c.(106-108)Aga>Gga	p.R36G		NM_207373.2	NP_997256.1	Q6UWK7	CJ099_HUMAN	chromosome 10 open reading frame 99	36						extracellular region (GO:0005576)				endometrium(1)|lung(1)|pancreas(1)|prostate(1)	4						GTCAGGCAGGAGAACCAGGCT	0.572																																						ENST00000372126.3																			0				endometrium(1)|lung(1)|pancreas(1)|prostate(1)	4						c.(106-108)Aga>Gga		chromosome 10 open reading frame 99							110	87	95					10																	85936271		2203	4300	6503	SO:0001583	missense	387695					extracellular region		g.chr10:85936271A>G	AY358751	CCDS7371.1	10q23.2	2014-04-16			ENSG00000188373	ENSG00000188373			31428	protein-coding gene	gene with protein product						12975309	Standard	NM_207373		Approved	UNQ1833, RLLV1833, FLJ21763	uc001kcu.3	Q6UWK7	OTTHUMG00000018635	ENST00000372126.3:c.106A>G	10.37:g.85936271A>G	ENSP00000361199:p.Arg36Gly						p.R36G	NM_207373.2	NP_997256.1	Q6UWK7	CJ099_HUMAN			2	220	+			36						Missense_Mutation	SNP	ENST00000372126.3	37	c.106A>G	CCDS7371.1	.	.	.	.	.	.	.	.	.	.	A	12.01	1.810486	0.32053	.	.	ENSG00000188373	ENST00000372126	.	.	.	3.78	3.78	0.43462	.	.	.	.	.	T	0.24624	0.0597	.	.	.	0.09310	N	1	P	0.42518	0.782	B	0.32149	0.141	T	0.16808	-1.0390	7	0.87932	D	0	.	9.2276	0.37416	1.0:0.0:0.0:0.0	.	36	Q6UWK7	CJ099_HUMAN	G	36	.	ENSP00000361199:R36G	R	+	1	2	C10orf99	85926251	0.022000	0.18835	0.006000	0.13384	0.003000	0.03518	3.506000	0.53364	1.959000	0.56917	0.454000	0.30748	AGA		0.572	C10orf99-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049114.1	NM_207373		23	42	0	0	0	1	0	23	42					G	85936271	A	G	85936271	3	3	324	1	0	0	0	0	1	0	0	0	1628	296	11	4	112	4	C10orf99	10	85936271	Missense_Mutation	SNP	A	TCGA-KK-A7AW-01A-11D-A32B-08	35195325	85936271	49598476	31	16583											
TACC2	10579	broad.mit.edu	37	chr10	123970886	123970886	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaaacttgacaacactcctGcctcacctcccagatcccct	11	8	4	18	0	1	3	1	1	0	2	4	3	4	3	6	0	3	0	6	0	2	1	rs374042332		TCGA-KK-A7AW-01A-11D-A32B-08	TCGA-KK-A7AW-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a20984a-dea3-4ed4-a100-2b1d193eb825	f746f8be-5ee1-4d6c-9d56-acab7b56ab3b	g.chr10:123970886G>C	ENST00000369005.1	+	9	7286	c.6946G>C	c.(6946-6948)Gcc>Ccc	p.A2316P	TACC2_ENST00000513429.1_Missense_Mutation_p.A462P|TACC2_ENST00000334433.3_Missense_Mutation_p.A2316P|TACC2_ENST00000515273.1_Missense_Mutation_p.A2320P|TACC2_ENST00000453444.2_Missense_Mutation_p.A2320P|TACC2_ENST00000358010.1_Missense_Mutation_p.A462P|TACC2_ENST00000369004.3_Missense_Mutation_p.A394P|TACC2_ENST00000368999.1_Missense_Mutation_p.A394P|TACC2_ENST00000369001.1_Missense_Mutation_p.A20P|TACC2_ENST00000360561.3_Missense_Mutation_p.A394P|TACC2_ENST00000515603.1_Missense_Mutation_p.A2271P|TACC2_ENST00000260733.3_Missense_Mutation_p.A394P|TACC2_ENST00000369000.1_Missense_Mutation_p.A20P	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	2316	SPAZ.				astral microtubule organization (GO:0030953)|cerebral cortex development (GO:0021987)|interkinetic nuclear migration (GO:0022027)|neurogenesis (GO:0022008)|regulation of microtubule-based process (GO:0032886)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleus (GO:0005634)	nuclear hormone receptor binding (GO:0035257)			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				CAACACTCCTGCCTCACCTCC	0.488																																						ENST00000369005.1																			0				NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83						c.(6946-6948)Gcc>Ccc		transforming, acidic coiled-coil containing protein 2							141	141	141					10																	123970886		2203	4300	6503	SO:0001583	missense	10579					microtubule organizing center|nucleus	nuclear hormone receptor binding	g.chr10:123970886G>C	AF095791	CCDS7625.1, CCDS7626.1, CCDS7627.1, CCDS7628.1	10q26	2008-07-29			ENSG00000138162	ENSG00000138162			11523	protein-coding gene	gene with protein product		605302				14767476	Standard	XM_005269388		Approved	AZU-1	uc001lfv.3	O95359	OTTHUMG00000019181	ENST00000369005.1:c.6946G>C	10.37:g.123970886G>C	ENSP00000358001:p.Ala2316Pro					TACC2_ENST00000369000.1_Missense_Mutation_p.A20P|TACC2_ENST00000260733.3_Missense_Mutation_p.A394P|TACC2_ENST00000360561.3_Missense_Mutation_p.A394P|TACC2_ENST00000515603.1_Missense_Mutation_p.A2271P|TACC2_ENST00000513429.1_Missense_Mutation_p.A462P|TACC2_ENST00000358010.1_Missense_Mutation_p.A462P|TACC2_ENST00000369001.1_Missense_Mutation_p.A20P|TACC2_ENST00000515273.1_Missense_Mutation_p.A2320P|TACC2_ENST00000334433.3_Missense_Mutation_p.A2316P|TACC2_ENST00000453444.2_Missense_Mutation_p.A2320P|TACC2_ENST00000369004.3_Missense_Mutation_p.A394P|TACC2_ENST00000368999.1_Missense_Mutation_p.A394P	p.A2316P	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN			9	7286	+		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)	2316			SPAZ.		Q4VXL0|Q4VXL3|Q4VXL6|Q4VXL7|Q5U5T7|Q86WG6|Q86WG7|Q8TCK9|Q9BVQ1|Q9NZ41|Q9NZR5	Missense_Mutation	SNP	ENST00000369005.1	37	c.6946G>C	CCDS7626.1	.	.	.	.	.	.	.	.	.	.	G	11.95	1.791978	0.31685	.	.	ENSG00000138162	ENST00000369005;ENST00000513429;ENST00000515273;ENST00000515603;ENST00000334433;ENST00000358010;ENST00000453444;ENST00000340076;ENST00000369001;ENST00000369000;ENST00000360561;ENST00000368999;ENST00000369004;ENST00000260733;ENST00000514539;ENST00000496913	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.20332	3.9;3.49;3.95;3.94;3.9;3.49;3.95;2.08;2.09;3.38;3.38;3.38;3.37;2.99;2.38	4.74	3.82	0.43975	.	0.000000	0.36703	N	0.002443	T	0.11707	0.0285	N	0.22421	0.69	0.29901	N	0.82438	B;B;B;P;B;B;B;B;B;P	0.38617	0.016;0.264;0.009;0.64;0.264;0.016;0.016;0.002;0.016;0.64	B;B;B;B;B;B;B;B;B;B	0.37144	0.022;0.132;0.006;0.242;0.132;0.013;0.013;0.009;0.013;0.242	T	0.05273	-1.0895	10	0.27082	T	0.32	-14.6979	6.2811	0.21007	0.15:0.1777:0.6724:0.0	.	411;2320;394;2271;2320;394;394;20;462;2316	E9PGB3;E9PBC6;D6RAA5;E7EMZ9;B7ZMJ9;O95359-6;O95359-1;O95359-2;O95359-5;O95359	.;.;.;.;.;.;.;.;.;TACC2_HUMAN	P	2316;462;2320;2271;2316;462;2320;2306;20;20;394;394;394;394;411;55	ENSP00000358001:A2316P;ENSP00000425062:A462P;ENSP00000424467:A2320P;ENSP00000427618:A2271P;ENSP00000334280:A2316P;ENSP00000350701:A462P;ENSP00000395048:A2320P;ENSP00000357997:A20P;ENSP00000357996:A20P;ENSP00000353763:A394P;ENSP00000357995:A394P;ENSP00000422815:A394P;ENSP00000260733:A394P;ENSP00000420967:A411P;ENSP00000422725:A55P	ENSP00000260733:A394P	A	+	1	0	TACC2	123960876	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	1.541000	0.36126	2.357000	0.79964	0.555000	0.69702	GCC		0.488	TACC2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090004.1			5	162	0	0	0	1	0	5	162					C	123970886	G	C	123970886	3	2	324	1	0	0	0	0	1	0	0	0	15499	1319	46	5	7048	5	TACC2	10	123970886	Missense_Mutation	SNP	G	TCGA-KK-A7AW-01A-11D-A32B-08	38034615	123970886	11563861	32	16584											
GRIA4	2893	broad.mit.edu	37	chr11	105845210	105845210	+	Intron	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acttttaacccaacttcctcGcagaatacccagaatttagc	13	11	4	13	1	0	2	0	0	0	2	2	2	1	2	3	0	4	1	3	0	6	6			TCGA-KK-A7AW-01A-11D-A32B-08	TCGA-KK-A7AW-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a20984a-dea3-4ed4-a100-2b1d193eb825	f746f8be-5ee1-4d6c-9d56-acab7b56ab3b	g.chr11:105845210G>A	ENST00000530497.1	+	15	2544				RNU6-277P_ENST00000516272.1_RNA|GRIA4_ENST00000533094.1_3'UTR|GRIA4_ENST00000525187.1_Silent_p.S861S|GRIA4_ENST00000282499.5_Intron|GRIA4_ENST00000393127.2_Silent_p.S861S			P48058	GRIA4_HUMAN	glutamate receptor, ionotropic, AMPA 4						glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|vesicle (GO:0031982)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)|ionotropic glutamate receptor activity (GO:0004970)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(24)|liver(2)|lung(25)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	82		Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323)		BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899)		CAACTTCCTCGCAGAATACCC	0.438																																						ENST00000393127.2																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(24)|liver(2)|lung(25)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	82						c.(2581-2583)tcG>tcA		glutamate receptor, ionotropic, AMPA 4	L-Glutamic Acid(DB00142)						97	95	95					11																	105845210		2201	4299	6500	SO:0001627	intron_variant	0				glutamate signaling pathway|synaptic transmission	cell junction|endocytic vesicle membrane|integral to membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity	g.chr11:105845210G>A	U16129	CCDS8333.1, CCDS41706.1, CCDS41707.1	11q22	2012-08-29	2012-02-03		ENSG00000152578	ENSG00000152578		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4574	protein-coding gene	gene with protein product		138246	"glutamate receptor, ionotrophic, AMPA 4"	GLUR4			Standard	NM_001077244		Approved	GluA4, GLURD	uc001pix.2	P48058	OTTHUMG00000166236	ENST00000530497.1:c.2544+39G>A	11.37:g.105845210G>A						GRIA4_ENST00000533094.1_3'UTR|GRIA4_ENST00000282499.5_Intron|GRIA4_ENST00000525187.1_Silent_p.S861S|GRIA4_ENST00000530497.1_Intron	p.S861S	NM_001077243.2	NP_001070711.2	P48058	GRIA4_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899)	16	3029	+		Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323)	0					Q86XE8	Silent	SNP	ENST00000530497.1	37	c.2583G>A	CCDS8333.1																																																																																				0.438	GRIA4-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000388593.1			10	55	0	0	0	1	0	10	55					A	105845210	G	A	105845210	1	1	324	0	1	0	0	0	0	0	0	0	6770	1074	38	1		1	GRIA4	11	105845210	Intron	SNP	G	TCGA-KK-A7AW-01A-11D-A32B-08		105845210	29161306	33	16585											
TRIM29	23650	broad.mit.edu	37	chr11	120008274	120008274	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tgaaaaaaggcccgtgtcggCccgggggtagctgttccgcc	7	7	15	12	4	0	1	0	1	0	0	2	1	1	1	4	4	1	3	4	4	4	2			TCGA-KK-A7AW-01A-11D-A32B-08	TCGA-KK-A7AW-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a20984a-dea3-4ed4-a100-2b1d193eb825	f746f8be-5ee1-4d6c-9d56-acab7b56ab3b	g.chr11:120008274C>T	ENST00000341846.5	-	1	887	c.466G>A	c.(466-468)Gcc>Acc	p.A156T		NM_012101.3	NP_036233.2	Q14134	TRI29_HUMAN	tripartite motif containing 29	156					negative regulation of protein localization to nucleus (GO:1900181)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)	sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	30		Breast(109;0.00117)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.37e-06)		CCCGTGTCGGCCCGGGGGTAG	0.642																																						ENST00000341846.5																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	30						c.(466-468)Gcc>Acc		tripartite motif containing 29							48	62	57					11																	120008274		2202	4299	6501	SO:0001583	missense	23650				transcription from RNA polymerase II promoter	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr11:120008274C>T	AF230388	CCDS8428.1	11q23.3	2011-04-20	2011-01-25		ENSG00000137699	ENSG00000137699		"Tripartite motif containing / Tripartite motif containing"	17274	protein-coding gene	gene with protein product	"tripartite motif protein TRIM29", "ataxia-telangiectasia group D-associated protein"	610658	"tripartite motif-containing 29"			11331580	Standard	NM_012101		Approved	ATDC, FLJ36085	uc001pwz.3	Q14134	OTTHUMG00000140377	ENST00000341846.5:c.466G>A	11.37:g.120008274C>T	ENSP00000343129:p.Ala156Thr						p.A156T	NM_012101.3	NP_036233.2	Q14134	TRI29_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.37e-06)	1	887	-		Breast(109;0.00117)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	156					Q96AA9|Q9BZY7	Missense_Mutation	SNP	ENST00000341846.5	37	c.466G>A	CCDS8428.1	.	.	.	.	.	.	.	.	.	.	C	12.10	1.837955	0.32513	.	.	ENSG00000137699	ENST00000341846	T	0.38077	1.16	5.19	3.31	0.37934	.	0.577215	0.16371	N	0.217331	T	0.26304	0.0642	L	0.40543	1.245	0.20563	N	0.999887	P	0.35192	0.489	B	0.34180	0.177	T	0.11108	-1.0601	9	.	.	.	.	6.8298	0.23902	0.0:0.588:0.2619:0.15	.	156	Q14134	TRI29_HUMAN	T	156	ENSP00000343129:A156T	.	A	-	1	0	TRIM29	119513484	0.359000	0.24955	0.185000	0.23176	0.576000	0.36127	0.077000	0.14738	0.579000	0.29504	0.563000	0.77884	GCC		0.642	TRIM29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277108.2	NM_012101		5	110	0	0	0	1	0	5	110					T	120008274	C	T	120008274	3	4	324	1	0	0	0	0	1	0	0	0	16500	739	26	3	1336	3	TRIM29	11	120008274	Missense_Mutation	SNP	C	TCGA-KK-A7AW-01A-11D-A32B-08	14163064	120008274	14998242	34	16586											
AMDHD1	144193	broad.mit.edu	37	chr12	96350665	96350665	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaccgagctcaagatgctgcGcgtgattgagcgcgcccggc	7	6	15	13	6	1	3	1	2	0	1	1	5	1	3	2	1	4	2	2	1	1	1			TCGA-KK-A7AW-01A-11D-A32B-08	TCGA-KK-A7AW-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a20984a-dea3-4ed4-a100-2b1d193eb825	f746f8be-5ee1-4d6c-9d56-acab7b56ab3b	g.chr12:96350665G>A	ENST00000266736.2	+	4	618	c.512G>A	c.(511-513)cGc>cAc	p.R171H		NM_152435.2	NP_689648.2	Q96NU7	HUTI_HUMAN	amidohydrolase domain containing 1	171					cellular nitrogen compound metabolic process (GO:0034641)|histidine catabolic process (GO:0006548)|histidine catabolic process to glutamate and formamide (GO:0019556)|histidine catabolic process to glutamate and formate (GO:0019557)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	imidazolonepropionase activity (GO:0050480)|metal ion binding (GO:0046872)			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|skin(1)	22						AAGATGCTGCGCGTGATTGAG	0.627																																						ENST00000266736.2																			0				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|skin(1)	22						c.(511-513)cGc>cAc		amidohydrolase domain containing 1							98	99	98					12																	96350665		2203	4300	6503	SO:0001583	missense	144193				histidine catabolic process to glutamate and formamide	cytosol	imidazolonepropionase activity|metal ion binding	g.chr12:96350665G>A	AB075878	CCDS9057.1	12q23.1	2006-02-02				ENSG00000139344			28577	protein-coding gene	gene with protein product							Standard	NM_152435		Approved	MGC35366	uc001tel.2	Q96NU7	OTTHUMG00000170353	ENST00000266736.2:c.512G>A	12.37:g.96350665G>A	ENSP00000266736:p.Arg171His						p.R171H	NM_152435.2	NP_689648.2	Q96NU7	HUTI_HUMAN			4	618	+			171					A8K463|Q68CI8	Missense_Mutation	SNP	ENST00000266736.2	37	c.512G>A	CCDS9057.1	.	.	.	.	.	.	.	.	.	.	G	18.99	3.739567	0.69304	.	.	ENSG00000139344	ENST00000266736	T	0.48836	0.8	5.57	5.57	0.84162	Metal-dependent hydrolase, composite domain (1);	0.196801	0.52532	D	0.000071	T	0.60366	0.2263	M	0.88031	2.925	0.50467	D	0.999874	B	0.23650	0.089	B	0.25291	0.059	T	0.63301	-0.6668	10	0.62326	D	0.03	-0.6441	19.5469	0.95302	0.0:0.0:1.0:0.0	.	171	Q96NU7	HUTI_HUMAN	H	171	ENSP00000266736:R171H	ENSP00000266736:R171H	R	+	2	0	AMDHD1	94874796	1.000000	0.71417	0.978000	0.43139	0.882000	0.50991	5.072000	0.64389	2.632000	0.89209	0.491000	0.48974	CGC		0.627	AMDHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408640.1	NM_152435		19	86	0	0	0	1	0	19	86					A	96350665	G	A	96350665	3	1	324	1	0	0	0	0	1	0	0	0	567	1087	38	1	526	1	AMDHD1	12	96350665	Missense_Mutation	SNP	G	TCGA-KK-A7AW-01A-11D-A32B-08		96350665	37501230	35	16587											
TUBA3C	7278	broad.mit.edu	37	chr13	19751261	19751261	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcattggtgatctcagccaCggacagctgctcgtggtagg	7	9	15	10	2	1	1	1	1	1	0	3	2	1	2	1	5	3	4	1	5	1	2			TCGA-KK-A7AW-01A-11D-A32B-08	TCGA-KK-A7AW-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a20984a-dea3-4ed4-a100-2b1d193eb825	f746f8be-5ee1-4d6c-9d56-acab7b56ab3b	g.chr13:19751261C>T	ENST00000400113.3	-	4	966	c.862G>A	c.(862-864)Gtg>Atg	p.V288M		NM_006001.2	NP_005992.1	Q13748	TBA3C_HUMAN	tubulin, alpha 3c	288					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|microtubule-based process (GO:0007017)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(4)|prostate(7)|skin(7)|urinary_tract(1)	72		all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108)		ATCTCAGCCACGGACAGCTGC	0.607																																						ENST00000400113.3																			0				NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(4)|prostate(7)|skin(7)|urinary_tract(1)	72						c.(862-864)Gtg>Atg		tubulin, alpha 3c							150	133	138					13																	19751261		2203	4300	6503	SO:0001583	missense	7278				'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity	g.chr13:19751261C>T	AF005392	CCDS9284.1	13q12.11	2007-06-20	2007-02-12	2007-02-12	ENSG00000198033	ENSG00000198033		"Tubulins"	12408	protein-coding gene	gene with protein product		602528	"tubulin, alpha 2"	TUBA2		9465305	Standard	NM_006001		Approved	bA408E5.3	uc009zzj.3	Q13748	OTTHUMG00000016481	ENST00000400113.3:c.862G>A	13.37:g.19751261C>T	ENSP00000382982:p.Val288Met						p.V288M	NM_006001.2	NP_005992.1	Q13748	TBA3C_HUMAN		all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108)	4	966	-		all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162)	288					A6NJQ0|Q5W099|Q6PEY3|Q96F18	Missense_Mutation	SNP	ENST00000400113.3	37	c.862G>A	CCDS9284.1	.	.	.	.	.	.	.	.	.	.	c	10.38	1.334912	0.24253	.	.	ENSG00000198033	ENST00000400113;ENST00000360801	D	0.88046	-2.33	1.19	1.19	0.21007	.	0.000000	0.42294	U	0.000740	D	0.88662	0.6497	.	.	.	0.41188	D	0.986281	.	.	.	.	.	.	D	0.87966	0.2733	7	0.87932	D	0	.	8.3297	0.32178	0.0:1.0:0.0:0.0	.	.	.	.	M	288	ENSP00000382982:V288M	ENSP00000354037:V288M	V	-	1	0	TUBA3C	18649261	1.000000	0.71417	0.985000	0.45067	0.516000	0.34256	6.295000	0.72744	0.972000	0.38314	0.175000	0.17021	GTG		0.607	TUBA3C-002	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044007.2	NM_006001		4	147	0	0	0	1	0	4	147					T	19751261	C	T	19751261	3	4	324	1	0	0	0	0	1	0	0	0	16743	536	19	1	498	1	TUBA3C	13	19751261	Missense_Mutation	SNP	C	TCGA-KK-A7AW-01A-11D-A32B-08		19751261	95418617	36	16588											
LRFN5	145581	broad.mit.edu	37	chr14	42360591	42360591	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtcgtgggttgcatccagttTactacggaacaggattatgt	9	13	12	7	2	0	0	0	0	0	0	2	2	1	2	1	3	4	3	1	3	4	5			TCGA-KK-A7AW-01A-11D-A32B-08	TCGA-KK-A7AW-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a20984a-dea3-4ed4-a100-2b1d193eb825	f746f8be-5ee1-4d6c-9d56-acab7b56ab3b	g.chr14:42360591T>A	ENST00000298119.4	+	4	2713	c.1524T>A	c.(1522-1524)ttT>ttA	p.F508L	LRFN5_ENST00000554171.1_Intron|LRFN5_ENST00000554120.1_Intron	NM_152447.3	NP_689660.2	Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III domain containing 5	508						integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		GCATCCAGTTTACTACGGAAC	0.448										HNSCC(30;0.082)																												ENST00000298119.4																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120						c.(1522-1524)ttT>ttA		leucine rich repeat and fibronectin type III domain containing 5							243	221	228					14																	42360591		2203	4300	6503	SO:0001583	missense	145581					integral to membrane		g.chr14:42360591T>A	AK055365	CCDS9678.1	14q21.1	2013-02-11	2004-02-02	2004-02-04	ENSG00000165379	ENSG00000165379		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	20360	protein-coding gene	gene with protein product	"fibronectin type III, immunoglobulin and leucine rich repeat domains 8"	612811	"chromosome 14 open reading frame 146"	C14orf146		16828986	Standard	NM_152447		Approved	FIGLER8, SALM5	uc001wvm.3	Q96NI6	OTTHUMG00000140261	ENST00000298119.4:c.1524T>A	14.37:g.42360591T>A	ENSP00000298119:p.Phe508Leu	HNSCC(30;0.082)				LRFN5_ENST00000554120.1_Intron|LRFN5_ENST00000554171.1_Intron	p.F508L	NM_152447.3	NP_689660.2	Q96NI6	LRFN5_HUMAN	LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)	4	2713	+			508					B3KU78|Q86XL2	Missense_Mutation	SNP	ENST00000298119.4	37	c.1524T>A	CCDS9678.1	.	.	.	.	.	.	.	.	.	.	T	19.84	3.902358	0.72754	.	.	ENSG00000165379	ENST00000298119	T	0.59502	0.26	5.87	0.87	0.19102	.	0.000000	0.64402	D	0.000019	T	0.71434	0.3339	M	0.79614	2.46	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.69468	-0.5137	10	0.72032	D	0.01	.	8.8004	0.34905	0.0:0.2965:0.0:0.7035	.	508	Q96NI6	LRFN5_HUMAN	L	508	ENSP00000298119:F508L	ENSP00000298119:F508L	F	+	3	2	LRFN5	41430341	1.000000	0.71417	0.996000	0.52242	0.994000	0.84299	2.536000	0.45693	-0.075000	0.12798	0.528000	0.53228	TTT		0.448	LRFN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276786.1	NM_152447		6	232	0	0	0	1	0	6	232					A	42360591	T	A	42360591	3	1	324	1	0	0	0	0	1	0	0	0	8941	1751	61	5	1530	5	LRFN5	14	42360591	Missense_Mutation	SNP	T	TCGA-KK-A7AW-01A-11D-A32B-08		42360591	64988949	37	16589											
BCL11B	64919	broad.mit.edu	37	chr14	99642013	99642013	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggttcaggagccggtgcataGggttgccgcggcccggggac	5	6	19	11	4	1	0	1	0	0	0	1	2	1	2	3	7	3	3	3	7	1	3			TCGA-KK-A7AW-01A-11D-A32B-08	TCGA-KK-A7AW-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a20984a-dea3-4ed4-a100-2b1d193eb825	f746f8be-5ee1-4d6c-9d56-acab7b56ab3b	g.chr14:99642013G>A	ENST00000357195.3	-	4	1169	c.1160C>T	c.(1159-1161)cCt>cTt	p.P387L	BCL11B_ENST00000443726.2_Missense_Mutation_p.P193L|BCL11B_ENST00000345514.2_Missense_Mutation_p.P316L	NM_001282237.1|NM_138576.2	NP_001269166.1|NP_612808.1	Q9C0K0	BC11B_HUMAN	B-cell CLL/lymphoma 11B (zinc finger protein)	387					alpha-beta T cell differentiation (GO:0046632)|epithelial cell morphogenesis (GO:0003382)|keratinocyte development (GO:0003334)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|odontogenesis of dentin-containing tooth (GO:0042475)|olfactory bulb axon guidance (GO:0071678)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive T cell selection (GO:0043368)|post-embryonic camera-type eye development (GO:0031077)|regulation of keratinocyte proliferation (GO:0010837)|regulation of lipid metabolic process (GO:0019216)|regulation of neuron differentiation (GO:0045664)|striatal medium spiny neuron differentiation (GO:0021773)|T cell differentiation in thymus (GO:0033077)|T cell receptor V(D)J recombination (GO:0033153)|thymus development (GO:0048538)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(3)|breast(1)|central_nervous_system(9)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)|skin(2)	34		Melanoma(154;0.0866)|all_epithelial(191;0.241)		COAD - Colon adenocarcinoma(157;0.103)		CCGGTGCATAGGGTTGCCGCG	0.756			T	TLX3	T-ALL																																	ENST00000345514.2				Dom	yes		14	14q32.1	64919	T	B-cell CLL/lymphoma 11B  (CTIP2)			L	TLX3		T-ALL		0				NS(3)|breast(1)|central_nervous_system(9)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)|skin(2)	34						c.(946-948)cCt>cTt		B-cell CLL/lymphoma 11B (zinc finger protein)							5	6	6					14																	99642013		1810	3734	5544	SO:0001583	missense	64919					nucleus	zinc ion binding	g.chr14:99642013G>A	AJ404614	CCDS9949.1, CCDS9950.1	14q32	2013-01-08			ENSG00000127152	ENSG00000127152		"Zinc fingers, C2H2-type"	13222	protein-coding gene	gene with protein product		606558		ZNF856B		11719382, 16950772	Standard	NM_138576		Approved	CTIP-2, CTIP2, hRIT1-alpha	uc001yga.3	Q9C0K0	OTTHUMG00000028967	ENST00000357195.3:c.1160C>T	14.37:g.99642013G>A	ENSP00000349723:p.Pro387Leu					BCL11B_ENST00000357195.3_Missense_Mutation_p.P387L|BCL11B_ENST00000443726.2_Missense_Mutation_p.P193L	p.P316L	NM_022898.1	NP_075049.1	Q9C0K0	BC11B_HUMAN		COAD - Colon adenocarcinoma(157;0.103)	3	1213	-		Melanoma(154;0.0866)|all_epithelial(191;0.241)	387					Q9H162	Missense_Mutation	SNP	ENST00000357195.3	37	c.947C>T	CCDS9950.1	.	.	.	.	.	.	.	.	.	.	G	17.50	3.404651	0.62288	.	.	ENSG00000127152	ENST00000357195;ENST00000345514;ENST00000443726	T;T;T	0.14266	2.54;2.56;2.52	4.28	4.28	0.50868	.	0.000000	0.64402	D	0.000002	T	0.32852	0.0843	L	0.53249	1.67	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.76575	0.988;0.968	T	0.04373	-1.0956	10	0.45353	T	0.12	-1.8718	17.0711	0.86573	0.0:0.0:1.0:0.0	.	316;387	Q9C0K0-2;Q9C0K0	.;BC11B_HUMAN	L	387;316;193	ENSP00000349723:P387L;ENSP00000280435:P316L;ENSP00000387419:P193L	ENSP00000280435:P316L	P	-	2	0	BCL11B	98711766	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	5.267000	0.65530	2.102000	0.63906	0.561000	0.74099	CCT		0.756	BCL11B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000072332.2	NM_138576		3	1	0	0	0	1	0	3	1					A	99642013	G	A	99642013	3	1	324	1	0	0	0	0	1	0	0	0	1364	1000	35	3	1528	3	BCL11B	14	99642013	Missense_Mutation	SNP	G	TCGA-KK-A7AW-01A-11D-A32B-08	57281422	99642013	7707527	38	16590											
BLM	641	broad.mit.edu	37	chr15	91312419	91312419	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aatctctatgagaggaagctCttggcacgttttgttattga	10	15	10	6	1	2	2	0	2	2	1	3	4	2	3	0	2	1	4	0	2	4	6			TCGA-KK-A7AW-01A-11D-A32B-08	TCGA-KK-A7AW-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a20984a-dea3-4ed4-a100-2b1d193eb825	f746f8be-5ee1-4d6c-9d56-acab7b56ab3b	g.chr15:91312419C>G	ENST00000355112.3	+	11	2482	c.2364C>G	c.(2362-2364)ctC>ctG	p.L788L	BLM_ENST00000560509.1_Silent_p.L788L|BLM_ENST00000560136.1_3'UTR	NM_000057.2	NP_000048.1	P54132	BLM_HUMAN	Bloom syndrome, RecQ helicase-like	788	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				alpha-beta T cell differentiation (GO:0046632)|ATP catabolic process (GO:0006200)|cellular response to camptothecin (GO:0072757)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to hydroxyurea (GO:0072711)|cellular response to ionizing radiation (GO:0071479)|DNA double-strand break processing (GO:0000729)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA strand renaturation (GO:0000733)|double-strand break repair via homologous recombination (GO:0000724)|mitotic G2 DNA damage checkpoint (GO:0007095)|negative regulation of cell division (GO:0051782)|negative regulation of DNA recombination (GO:0045910)|negative regulation of mitotic recombination (GO:0045950)|negative regulation of thymocyte apoptotic process (GO:0070244)|positive regulation of alpha-beta T cell proliferation (GO:0046641)|positive regulation of transcription, DNA-templated (GO:0045893)|protein oligomerization (GO:0051259)|regulation of binding (GO:0051098)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|replication fork processing (GO:0031297)|replication fork protection (GO:0048478)|response to X-ray (GO:0010165)|telomere maintenance (GO:0000723)	cytoplasm (GO:0005737)|lateral element (GO:0000800)|male germ cell nucleus (GO:0001673)|nuclear chromosome (GO:0000228)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleus (GO:0005634)|PML body (GO:0016605)|pronucleus (GO:0045120)|replication fork (GO:0005657)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|ATP-dependent 3'-5' DNA helicase activity (GO:0043140)|ATP-dependent DNA helicase activity (GO:0004003)|ATP-dependent helicase activity (GO:0008026)|ATPase activity (GO:0016887)|bubble DNA binding (GO:0000405)|four-way junction helicase activity (GO:0009378)|G-quadruplex DNA binding (GO:0051880)|helicase activity (GO:0004386)|p53 binding (GO:0002039)|single-stranded DNA binding (GO:0003697)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(11)|liver(4)|lung(9)|ovary(6)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	Lung NSC(78;0.0875)|all_lung(78;0.109)		Lung(145;0.189)			AGAGGAAGCTCTTGGCACGTT	0.353			"Mis, N, F"			"leukemia, lymphoma, skin squamous cell , other cancers"		Genes defective in diseases associated with sensitivity to DNA damaging agents	Bloom syndrome																													ENST00000355112.3			yes	Rec		Bloom Syndrome	15	15q26.1	641	"Mis, N, F"	Bloom Syndrome			"L, E"		"leukemia, lymphoma, skin squamous cell , other cancers"			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(11)|liver(4)|lung(9)|ovary(6)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						c.(2362-2364)ctC>ctG	Genes defective in diseases associated with sensitivity to DNA damaging agents	Bloom syndrome, RecQ helicase-like							168	159	162					15																	91312419		2198	4298	6496	SO:0001819	synonymous_variant	641	Bloom syndrome	Familial Cancer Database		double-strand break repair via homologous recombination|G2 phase of mitotic cell cycle|G2/M transition DNA damage checkpoint|negative regulation of cell division|positive regulation of transcription, DNA-dependent|protein oligomerization|regulation of cyclin-dependent protein kinase activity|replication fork processing|replication fork protection|response to X-ray	cytoplasm|lateral element|nuclear matrix|nucleolus|PML body	ATP binding|bubble DNA binding|DNA strand annealing activity|four-way junction helicase activity|G-quadruplex DNA binding|p53 binding	g.chr15:91312419C>G	U39817	CCDS10363.1, CCDS73782.1	15q26.1	2014-09-17	2009-03-19		ENSG00000197299	ENSG00000197299			1058	protein-coding gene	gene with protein product		604610	"Bloom syndrome"			9388193	Standard	NM_000057		Approved	BS, RECQL3, RECQ2	uc002bpr.3	P54132	OTTHUMG00000149834	ENST00000355112.3:c.2364C>G	15.37:g.91312419C>G						BLM_ENST00000560509.1_Silent_p.L788L|BLM_ENST00000560136.1_3'UTR	p.L788L	NM_000057.2	NP_000048.1	P54132	BLM_HUMAN	Lung(145;0.189)		11	2482	+	Lung NSC(78;0.0875)|all_lung(78;0.109)		788			Helicase ATP-binding.		Q52M96	Silent	SNP	ENST00000355112.3	37	c.2364C>G	CCDS10363.1																																																																																				0.353	BLM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313495.1			4	126	0	0	0	1	0	4	126					G	91312419	C	G	91312419	2	3	324	1	0	0	0	0	0	0	0	1	1445	900	32	5		5	BLM	15	91312419	Silent	SNP	C	TCGA-KK-A7AW-01A-11D-A32B-08		91312419	11218973	39	16591											
EEF2K	29904	broad.mit.edu	37	chr16	22260137	22260137	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgatcaagatggcatctcagGtgagcagagcgttgagcccc	10	8	13	10	1	2	5	2	3	1	2	3	5	2	5	2	2	3	3	2	2	1	1			TCGA-KK-A7AW-01A-11D-A32B-08	TCGA-KK-A7AW-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a20984a-dea3-4ed4-a100-2b1d193eb825	f746f8be-5ee1-4d6c-9d56-acab7b56ab3b	g.chr16:22260137G>T	ENST00000263026.5	+	4	882		c.e4+1			NM_013302.3	NP_037434	O00418	EF2K_HUMAN	eukaryotic elongation factor-2 kinase						insulin receptor signaling pathway (GO:0008286)|protein autophosphorylation (GO:0046777)|regulation of protein autophosphorylation (GO:0031952)|translational elongation (GO:0006414)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|elongation factor-2 kinase activity (GO:0004686)|protein kinase activity (GO:0004672)|translation factor activity, nucleic acid binding (GO:0008135)			breast(1)|central_nervous_system(1)|endometrium(8)|large_intestine(2)|lung(13)|ovary(1)|prostate(1)|skin(2)	29				GBM - Glioblastoma multiforme(48;0.0223)		GGCATCTCAGGTGAGCAGAGC	0.547																																					NSCLC(195;1411 2157 20319 27471 51856)	ENST00000263026.5																			0				breast(1)|central_nervous_system(1)|endometrium(8)|large_intestine(2)|lung(13)|ovary(1)|prostate(1)|skin(2)	29						c.e4+1		eukaryotic elongation factor-2 kinase							118	92	101					16																	22260137		2197	4300	6497	SO:0001630	splice_region_variant	29904				insulin receptor signaling pathway|translational elongation	cytosol	ATP binding|calcium ion binding|calmodulin binding|elongation factor-2 kinase activity|translation factor activity, nucleic acid binding	g.chr16:22260137G>T	U93850	CCDS10604.1	16p12	2008-02-05			ENSG00000103319	ENSG00000103319			24615	protein-coding gene	gene with protein product		606968				9144159, 12051769	Standard	NM_013302		Approved	eEF-2K	uc002dki.3	O00418	OTTHUMG00000094771	ENST00000263026.5:c.408+1G>T	16.37:g.22260137G>T								NM_013302.3	NP_037434.1	O00418	EF2K_HUMAN		GBM - Glioblastoma multiforme(48;0.0223)	4	882	+								Q8N588	Splice_Site	SNP	ENST00000263026.5	37		CCDS10604.1	.	.	.	.	.	.	.	.	.	.	G	16.37	3.103795	0.56291	.	.	ENSG00000103319	ENST00000263026	.	.	.	4.97	4.97	0.65823	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.5985	0.91239	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	EEF2K	22167638	1.000000	0.71417	1.000000	0.80357	0.351000	0.29236	9.362000	0.97126	2.463000	0.83235	0.462000	0.41574	.		0.547	EEF2K-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211580.2	NM_013302	Intron	7	33	1	0	0.27861	1	0.288386	7	33					T	22260137	G	T	22260137	5	4	324	1	0	0	0	0	0	0	1	0	4930	1275	44	5	419	5	EEF2K	16	22260137	Splice_Site	SNP	G	TCGA-KK-A7AW-01A-11D-A32B-08		22260137	68094616	40	16592											
USP31	57478	broad.mit.edu	37	chr16	23079700	23079700	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aaggctgtcttgccaagatcCgtcgagcgccgggtttcctt	6	11	12	12	4	1	1	0	0	1	1	4	2	3	1	4	2	2	2	4	2	2	3			TCGA-KK-A7AW-01A-11D-A32B-08	TCGA-KK-A7AW-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a20984a-dea3-4ed4-a100-2b1d193eb825	f746f8be-5ee1-4d6c-9d56-acab7b56ab3b	g.chr16:23079700C>T	ENST00000219689.7	-	16	3725	c.3726G>A	c.(3724-3726)acG>acA	p.T1242T	USP31_ENST00000567975.1_Silent_p.T535T	NM_020718.3	NP_065769.3	Q86UV5	UBP48_HUMAN	ubiquitin specific peptidase 31	0					ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ubiquitin-specific protease activity (GO:0004843)			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	57				GBM - Glioblastoma multiforme(48;0.0187)		TGCCAAGATCCGTCGAGCGCC	0.542																																						ENST00000219689.7																			0				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	57						c.(3724-3726)acG>acA		ubiquitin specific peptidase 31							137	146	143					16																	23079700		2197	4300	6497	SO:0001819	synonymous_variant	57478				ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr16:23079700C>T	AB033029	CCDS10607.1	16p12.3	2008-02-05	2005-08-08		ENSG00000103404	ENSG00000103404		"Ubiquitin-specific peptidases"	20060	protein-coding gene	gene with protein product			"ubiquitin specific protease 31"			12838346	Standard	NM_020718		Approved	KIAA1203	uc002dll.3	Q70CQ4	OTTHUMG00000094793	ENST00000219689.7:c.3726G>A	16.37:g.23079700C>T						USP31_ENST00000567975.1_Silent_p.T535T	p.T1242T	NM_020718.3	NP_065769.3	Q70CQ4	UBP31_HUMAN		GBM - Glioblastoma multiforme(48;0.0187)	16	3725	-			1242					B7ZKS7|Q2M3I4|Q5SZI4|Q5T3T5|Q6NX53|Q8N3F6|Q96F64|Q96IQ3|Q9H5N3|Q9H5T7|Q9NUJ6|Q9NXR0	Silent	SNP	ENST00000219689.7	37	c.3726G>A	CCDS10607.1																																																																																				0.542	USP31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211607.1	NM_020718		9	237	0	0	0	1	0	9	237					T	23079700	C	T	23079700	2	4	324	1	0	0	0	0	0	0	0	1	17059	639	23	2		2	USP31	16	23079700	Silent	SNP	C	TCGA-KK-A7AW-01A-11D-A32B-08	819563	23079700	67275053	41	16593											
PDPR	55066	broad.mit.edu	37	chr16	70164411	70164411	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtggagaccgataaaggacaGattgaatgccagtattttgt	13	11	12	5	1	0	3	0	1	0	2	0	6	0	4	2	2	1	1	2	2	4	5			TCGA-KK-A7AW-01A-11D-A32B-08	TCGA-KK-A7AW-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a20984a-dea3-4ed4-a100-2b1d193eb825	f746f8be-5ee1-4d6c-9d56-acab7b56ab3b	g.chr16:70164411G>A	ENST00000288050.4	+	7	1650	c.693G>A	c.(691-693)caG>caA	p.Q231Q	PDPR_ENST00000568530.1_Silent_p.Q231Q|PDPR_ENST00000398122.3_Silent_p.Q131Q	NM_017990.3	NP_060460.4	Q8NCN5	PDPR_HUMAN	pyruvate dehydrogenase phosphatase regulatory subunit	231					cellular metabolic process (GO:0044237)|glycine catabolic process (GO:0006546)|pyruvate metabolic process (GO:0006090)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|mitochondrial matrix (GO:0005759)	aminomethyltransferase activity (GO:0004047)|oxidoreductase activity (GO:0016491)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|skin(2)|stomach(3)	33				BRCA - Breast invasive adenocarcinoma(221;0.124)		ATAAAGGACAGATTGAATGCC	0.418																																						ENST00000288050.4																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|skin(2)|stomach(3)	33						c.(691-693)caG>caA		pyruvate dehydrogenase phosphatase regulatory subunit							122	130	128					16																	70164411		1919	4136	6055	SO:0001819	synonymous_variant	55066				glycine catabolic process|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	aminomethyltransferase activity|oxidoreductase activity	g.chr16:70164411G>A		CCDS45520.1	16q22.1	2010-08-24			ENSG00000090857	ENSG00000090857			30264	protein-coding gene	gene with protein product						9395502	Standard	NM_017990		Approved	PDP3	uc002eyf.1	Q8NCN5		ENST00000288050.4:c.693G>A	16.37:g.70164411G>A						PDPR_ENST00000398122.3_Silent_p.Q131Q|PDPR_ENST00000568530.1_Silent_p.Q231Q	p.Q231Q	NM_017990.3	NP_060460.4	Q8NCN5	PDPR_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.124)	7	1650	+			231					A7E298|A8K8Y7|B3KSE1|Q6AI20|Q6AWC9	Silent	SNP	ENST00000288050.4	37	c.693G>A	CCDS45520.1																																																																																				0.418	PDPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434502.1	NM_017990		5	43	0	0	0	1	0	5	43					A	70164411	G	A	70164411	2	1	324	1	0	0	0	0	0	0	0	1	11689	933	33	3		3	PDPR	16	70164411	Silent	SNP	G	TCGA-KK-A7AW-01A-11D-A32B-08	47084711	70164411	20190342	42	16594											
MBTPS1	8720	broad.mit.edu	37	chr16	84089609	84089609	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	acaaagcagccgagaactcaCctccaggaatgtcccaggcg	13	4	10	14	2	1	1	1	0	0	1	3	3	3	2	4	2	3	1	4	2	3	0			TCGA-KK-A7AW-01A-11D-A32B-08	TCGA-KK-A7AW-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a20984a-dea3-4ed4-a100-2b1d193eb825	f746f8be-5ee1-4d6c-9d56-acab7b56ab3b	g.chr16:84089609C>A	ENST00000343411.3	-	22	3458		c.e22+1			NM_003791.2	NP_003782.1	Q14703	MBTP1_HUMAN	membrane-bound transcription factor peptidase, site 1						activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|cholesterol metabolic process (GO:0008203)|endoplasmic reticulum unfolded protein response (GO:0030968)|lipid metabolic process (GO:0006629)|lysosome organization (GO:0007040)|proteolysis (GO:0006508)|regulation of transcription factor import into nucleus (GO:0042990)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum lumen (GO:0005788)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)	serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(10)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						CGAGAACTCACCTCCAGGAAT	0.567																																						ENST00000343411.3																			0				NS(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(10)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						c.e22+1		membrane-bound transcription factor peptidase, site 1							81	79	80					16																	84089609		2200	4300	6500	SO:0001630	splice_region_variant	8720				cholesterol metabolic process|proteolysis	endoplasmic reticulum lumen|endoplasmic reticulum membrane|Golgi membrane|integral to membrane	serine-type endopeptidase activity	g.chr16:84089609C>A	D42053	CCDS10941.1	16q24	2008-08-04	2005-08-17		ENSG00000140943	ENSG00000140943			15456	protein-coding gene	gene with protein product		603355	"membrane-bound transcription factor protease, site 1"			9809072, 10944850	Standard	NM_003791		Approved	S1P, KIAA0091, SKI-1, PCSK8	uc002fhi.3	Q14703	OTTHUMG00000137639	ENST00000343411.3:c.2962+1G>T	16.37:g.84089609C>A								NM_003791.2	NP_003782.1	Q14703	MBTP1_HUMAN			22	3458	-								A8K6V8|Q24JQ2|Q9UF67	Splice_Site	SNP	ENST00000343411.3	37		CCDS10941.1	.	.	.	.	.	.	.	.	.	.	C	25.3	4.619707	0.87460	.	.	ENSG00000140943	ENST00000343411;ENST00000347334	.	.	.	5.65	5.65	0.86999	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.7405	0.96228	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	MBTPS1	82647110	1.000000	0.71417	1.000000	0.80357	0.873000	0.50193	7.718000	0.84743	2.655000	0.90218	0.655000	0.94253	.		0.567	MBTPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269080.2	NM_003791	Intron	12	40	1	0	2.80697e-09	1	3.18484e-09	12	40					A	84089609	C	A	84089609	5	1	324	1	0	0	0	0	0	0	1	0	9361	521	18	5	203	5	MBTPS1	16	84089609	Splice_Site	SNP	C	TCGA-KK-A7AW-01A-11D-A32B-08	13925198	84089609	6265144	43	16595											
CACNA1G	8913	broad.mit.edu	37	chr17	48650041	48650041	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgcccacgctgcgcggggaCgggggcggtggcccaccttg	3	5	19	14	5	0	0	0	0	0	0	0	1	0	1	3	6	2	1	3	6	0	1			TCGA-KK-A7AW-01A-11D-A32B-08	TCGA-KK-A7AW-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a20984a-dea3-4ed4-a100-2b1d193eb825	f746f8be-5ee1-4d6c-9d56-acab7b56ab3b	g.chr17:48650041C>T	ENST00000359106.5	+	6	873	c.873C>T	c.(871-873)gaC>gaT	p.D291D	CACNA1G_ENST00000507336.1_Silent_p.D291D|CACNA1G_ENST00000510115.1_Silent_p.D291D|CACNA1G_ENST00000512389.1_Silent_p.D291D|CACNA1G_ENST00000507896.1_Silent_p.D291D|CACNA1G_ENST00000416767.4_Silent_p.D291D|CACNA1G_ENST00000354983.4_Silent_p.D291D|CACNA1G_ENST00000429973.2_Silent_p.D291D|CACNA1G_ENST00000515411.1_Silent_p.D291D|CACNA1G_ENST00000514717.1_Silent_p.D291D|CACNA1G_ENST00000507510.2_Silent_p.D291D|CACNA1G_ENST00000442258.2_Silent_p.D291D|CACNA1G_ENST00000502264.1_Silent_p.D291D|CACNA1G_ENST00000513964.1_Silent_p.D291D|CACNA1G_ENST00000505165.1_Silent_p.D291D|CACNA1G_ENST00000503485.1_Silent_p.D291D|CACNA1G_ENST00000515765.1_Silent_p.D291D|CACNA1G_ENST00000510366.1_Silent_p.D291D|CACNA1G_ENST00000360761.4_Silent_p.D291D|CACNA1G_ENST00000515165.1_Silent_p.D291D|CACNA1G_ENST00000514181.1_Silent_p.D291D|CACNA1G_ENST00000352832.5_Silent_p.D291D|CACNA1G_ENST00000514079.1_Silent_p.D291D|CACNA1G_ENST00000358244.5_Silent_p.D291D|CACNA1G_ENST00000507609.1_Silent_p.D291D|CACNA1G_ENST00000513689.2_Silent_p.D291D	NM_018896.4	NP_061496.2	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit	291	Poly-Gly.				axon guidance (GO:0007411)|calcium ion import (GO:0070509)|membrane depolarization during action potential (GO:0086010)|positive regulation of calcium ion-dependent exocytosis (GO:0045956)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of heart rate (GO:0002027)|regulation of membrane potential (GO:0042391)|response to nickel cation (GO:0010045)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	low voltage-gated calcium channel activity (GO:0008332)|scaffold protein binding (GO:0097110)			breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Cinnarizine(DB00568)|Ethosuximide(DB00593)|Flunarizine(DB04841)|Methsuximide(DB05246)|Spironolactone(DB00421)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	TGCGCGGGGACGGGGGCGGTG	0.612																																						ENST00000352832.5																			0				breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47						c.(871-873)gaC>gaT		calcium channel, voltage-dependent, T type, alpha 1G subunit	Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)						25	29	27					17																	48650041		2091	4209	6300	SO:0001819	synonymous_variant	8913				axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity	g.chr17:48650041C>T	AC004590	CCDS45730.1, CCDS45731.1, CCDS45732.1, CCDS45733.1, CCDS45734.1, CCDS45735.1, CCDS45736.1, CCDS45737.1, CCDS54142.1, CCDS54143.1, CCDS54144.1, CCDS54145.1, CCDS54146.1, CCDS58565.1, CCDS58566.1, CCDS58567.1, CCDS58568.1, CCDS58569.1, CCDS58570.1, CCDS58571.1, CCDS58572.1, CCDS58573.1, CCDS58574.1, CCDS58575.1, CCDS58576.1	17q22	2012-03-07	2007-02-16		ENSG00000006283	ENSG00000006283		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1394	protein-coding gene	gene with protein product		604065				9495342, 16382099	Standard	NM_001256334		Approved	Cav3.1, NBR13	uc002irk.2	O43497	OTTHUMG00000162180	ENST00000359106.5:c.873C>T	17.37:g.48650041C>T						CACNA1G_ENST00000514717.1_Silent_p.D291D|CACNA1G_ENST00000505165.1_Silent_p.D291D|CACNA1G_ENST00000442258.2_Silent_p.D291D|CACNA1G_ENST00000507896.1_Silent_p.D291D|CACNA1G_ENST00000429973.2_Silent_p.D291D|CACNA1G_ENST00000507510.2_Silent_p.D291D|CACNA1G_ENST00000416767.4_Silent_p.D291D|CACNA1G_ENST00000354983.4_Silent_p.D291D|CACNA1G_ENST00000513964.1_Silent_p.D291D|CACNA1G_ENST00000515765.1_Silent_p.D291D|CACNA1G_ENST00000358244.5_Silent_p.D291D|CACNA1G_ENST00000510115.1_Silent_p.D291D|CACNA1G_ENST00000514079.1_Silent_p.D291D|CACNA1G_ENST00000503485.1_Silent_p.D291D|CACNA1G_ENST00000502264.1_Silent_p.D291D|CACNA1G_ENST00000514181.1_Silent_p.D291D|CACNA1G_ENST00000510366.1_Silent_p.D291D|CACNA1G_ENST00000359106.5_Silent_p.D291D|CACNA1G_ENST00000515411.1_Silent_p.D291D|CACNA1G_ENST00000512389.1_Silent_p.D291D|CACNA1G_ENST00000507609.1_Silent_p.D291D|CACNA1G_ENST00000513689.2_Silent_p.D291D|CACNA1G_ENST00000360761.4_Silent_p.D291D|CACNA1G_ENST00000507336.1_Silent_p.D291D|CACNA1G_ENST00000515165.1_Silent_p.D291D	p.D291D	NM_001256334.1|NM_198376.2|NM_198379.2|NM_198387.2|NM_198388.2	NP_001243263.1|NP_938190.1|NP_938193.1|NP_938201.1|NP_938202.1	O43497	CAC1G_HUMAN	BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		6	1245	+	Breast(11;6.7e-17)		291			Poly-Gly.		D6RA64|E7EPR0|O43498|O94770|Q19QY8|Q19QY9|Q19QZ0|Q19QZ1|Q19QZ2|Q19QZ3|Q19QZ4|Q19QZ5|Q19QZ6|Q19QZ7|Q19QZ8|Q19QZ9|Q19R00|Q19R01|Q19R02|Q19R03|Q19R04|Q19R05|Q19R06|Q19R07|Q19R08|Q19R09|Q19R10|Q19R11|Q19R12|Q19R13|Q19R15|Q19R16|Q19R17|Q19R18|Q2TAC4|Q9NYU4|Q9NYU5|Q9NYU6|Q9NYU7|Q9NYU8|Q9NYU9|Q9NYV0|Q9NYV1|Q9UHN9|Q9UHP0|Q9ULU6|Q9UNG7|Q9Y5T2|Q9Y5T3	Silent	SNP	ENST00000359106.5	37	c.873C>T	CCDS45730.1																																																																																				0.612	CACNA1G-013	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000367895.1	NM_018896		6	5	0	0	0	1	0	6	5					T	48650041	C	T	48650041	2	4	324	1	0	0	0	0	0	0	0	1	2544	535	19	1		1	CACNA1G	17	48650041	Silent	SNP	C	TCGA-KK-A7AW-01A-11D-A32B-08		48650041	32545169	44	16596											
THOC1	9984	broad.mit.edu	37	chr18	225119	225119	+	Frame_Shift_Del	DEL	G	G	-																															tttgaaaatctttctccatcGggggggttttcagatagtag																								rs368677132		TCGA-KK-A7AW-01A-11D-A32B-08	TCGA-KK-A7AW-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a20984a-dea3-4ed4-a100-2b1d193eb825	f746f8be-5ee1-4d6c-9d56-acab7b56ab3b	g.chr18:225119delG	ENST00000261600.6	-	14	1114	c.1107delC	c.(1105-1107)cccfs	p.P369fs		NM_005131.2	NP_005122.2	Q96FV9	THOC1_HUMAN	THO complex 1	369					apoptotic process (GO:0006915)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|negative regulation of DNA damage checkpoint (GO:2000002)|negative regulation of isotype switching to IgA isotypes (GO:0048297)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|regulation of DNA recombination (GO:0000018)|regulation of DNA-templated transcription, elongation (GO:0032784)|replication fork processing (GO:0031297)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|viral mRNA export from host cell nucleus (GO:0046784)	cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|nucleus (GO:0005634)|THO complex (GO:0000347)|THO complex part of transcription export complex (GO:0000445)|transcription export complex (GO:0000346)	DNA binding (GO:0003677)|RNA binding (GO:0003723)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1)	20		all_cancers(4;0.0896)|Myeloproliferative disorder(11;0.0412)				TTTCTCCATCGGGGGGGTTTT	0.388																																						ENST00000261600.6																			0				breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1)	20						c.(1105-1107)ccfs		THO complex 1							24	23	23					18																	225119		1808	4062	5870	SO:0001589	frameshift_variant	9984				apoptosis|intronless viral mRNA export from host nucleus|mRNA processing|regulation of transcription elongation, DNA-dependent|RNA splicing|signal transduction|transcription, DNA-dependent	cytoplasm|nuclear matrix|nuclear speck|THO complex part of transcription export complex	DNA binding|protein binding|RNA binding	g.chr18:225119delG	AK055354	CCDS45820.1	18p11.32	2013-02-11			ENSG00000079134	ENSG00000079134		"THO complex subunits"	19070	protein-coding gene	gene with protein product		606930				11979277	Standard	NM_005131		Approved	P84, HPR1	uc002kkj.4	Q96FV9		ENST00000261600.6:c.1107delC	18.37:g.225119delG	ENSP00000261600:p.Pro369fs						p.P369fs	NM_005131.2	NP_005122.2	Q96FV9	THOC1_HUMAN			14	1114	-		all_cancers(4;0.0896)|Myeloproliferative disorder(11;0.0412)	369					B2RBP6|Q15219|Q64I72|Q64I73	Frame_Shift_Del	DEL	ENST00000261600.6	37	c.1107delC	CCDS45820.1																																																																																				0.388	THOC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440348.5	NM_005131		2	4						2	4	---	---	---	---	-	225119	G	-	225119	7	5	324	1	0	1	0	1	0	0	0	0	15861	1103	39	0	898	0	THOC1	18	225119	Frame_Shift_Del	DEL	G	TCGA-KK-A7AW-01A-11D-A32B-08		225119	77852129	45	16597											
APOE	348	broad.mit.edu	37	chr19	45411082	45411082	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgagctgcgccagcagaccGagtggcagagcggccagcgc	8	2	16	15	5	0	2	0	0	0	2	0	4	0	2	4	2	5	3	4	2	0	0	rs142480126		TCGA-KK-A7AW-01A-11D-A32B-08	TCGA-KK-A7AW-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a20984a-dea3-4ed4-a100-2b1d193eb825	f746f8be-5ee1-4d6c-9d56-acab7b56ab3b	g.chr19:45411082G>T	ENST00000252486.4	+	3	220	c.109G>T	c.(109-111)Gag>Tag	p.E37*		NM_000041.2	NP_000032.1	P02649	APOE_HUMAN	apolipoprotein E	37					aging (GO:0007568)|alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor clustering (GO:0097113)|artery morphogenesis (GO:0048844)|cell death (GO:0008219)|cellular calcium ion homeostasis (GO:0006874)|cellular response to cholesterol (GO:0071397)|cellular response to growth factor stimulus (GO:0071363)|cellular response to interleukin-1 (GO:0071347)|cGMP-mediated signaling (GO:0019934)|cholesterol catabolic process (GO:0006707)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|chylomicron remnant clearance (GO:0034382)|cytoskeleton organization (GO:0007010)|fatty acid homeostasis (GO:0055089)|G-protein coupled receptor signaling pathway (GO:0007186)|high-density lipoprotein particle assembly (GO:0034380)|high-density lipoprotein particle clearance (GO:0034384)|high-density lipoprotein particle remodeling (GO:0034375)|intracellular transport (GO:0046907)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|long-chain fatty acid transport (GO:0015909)|low-density lipoprotein particle remodeling (GO:0034374)|maintenance of location in cell (GO:0051651)|N-methyl-D-aspartate receptor clustering (GO:0097114)|negative regulation of beta-amyloid formation (GO:1902430)|negative regulation of blood coagulation (GO:0030195)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|negative regulation of cholesterol biosynthetic process (GO:0045541)|negative regulation of cholesterol efflux (GO:0090370)|negative regulation of dendritic spine development (GO:0061000)|negative regulation of dendritic spine maintenance (GO:1902951)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of inflammatory response (GO:0050728)|negative regulation of lipid biosynthetic process (GO:0051055)|negative regulation of lipid transport across blood brain barrier (GO:1903001)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of neuron death (GO:1901215)|negative regulation of phospholipid efflux (GO:1902999)|negative regulation of platelet activation (GO:0010544)|negative regulation of postsynaptic membrane organization (GO:1901627)|negative regulation of presynaptic membrane organization (GO:1901630)|nitric oxide mediated signal transduction (GO:0007263)|oligodendrocyte differentiation (GO:0048709)|peripheral nervous system axon regeneration (GO:0014012)|phospholipid efflux (GO:0033700)|phototransduction, visible light (GO:0007603)|positive regulation of axon extension (GO:0045773)|positive regulation of beta-amyloid formation (GO:1902004)|positive regulation of cGMP biosynthetic process (GO:0030828)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of cholesterol esterification (GO:0010873)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of dendritic spine maintenance (GO:1902952)|positive regulation of lipid biosynthetic process (GO:0046889)|positive regulation of lipid transport across blood brain barrier (GO:1903002)|positive regulation of low-density lipoprotein particle receptor catabolic process (GO:0032805)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|positive regulation of neurofibrillary tangle assembly (GO:1902998)|positive regulation of neuron death (GO:1901216)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of phospholipid efflux (GO:1902995)|positive regulation of postsynaptic membrane organization (GO:1901628)|positive regulation of presynaptic membrane organization (GO:1901631)|protein import (GO:0017038)|receptor-mediated endocytosis (GO:0006898)|regulation of axon extension (GO:0030516)|regulation of beta-amyloid clearance (GO:1900221)|regulation of Cdc42 protein signal transduction (GO:0032489)|regulation of neuron death (GO:1901214)|regulation of neuronal synaptic plasticity (GO:0048168)|regulation of tau-protein kinase activity (GO:1902947)|response to dietary excess (GO:0002021)|response to ethanol (GO:0045471)|response to insulin (GO:0032868)|response to reactive oxygen species (GO:0000302)|response to retinoic acid (GO:0032526)|retinoid metabolic process (GO:0001523)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)|synaptic transmission, cholinergic (GO:0007271)|triglyceride metabolic process (GO:0006641)|vasodilation (GO:0042311)|very-low-density lipoprotein particle clearance (GO:0034447)|very-low-density lipoprotein particle remodeling (GO:0034372)	blood microparticle (GO:0072562)|chylomicron (GO:0042627)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|high-density lipoprotein particle (GO:0034364)|intermediate-density lipoprotein particle (GO:0034363)|late endosome (GO:0005770)|low-density lipoprotein particle (GO:0034362)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)|vesicle (GO:0031982)	antioxidant activity (GO:0016209)|beta-amyloid binding (GO:0001540)|cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|hydroxyapatite binding (GO:0046848)|identical protein binding (GO:0042802)|lipid binding (GO:0008289)|lipid transporter activity (GO:0005319)|lipoprotein particle binding (GO:0071813)|low-density lipoprotein particle receptor binding (GO:0050750)|metal chelating activity (GO:0046911)|phosphatidylcholine-sterol O-acyltransferase activator activity (GO:0060228)|phospholipid binding (GO:0005543)|protein homodimerization activity (GO:0042803)|tau protein binding (GO:0048156)|very-low-density lipoprotein particle receptor binding (GO:0070326)			large_intestine(1)|lung(2)|prostate(1)	4	Lung NSC(12;0.0018)|all_lung(12;0.00481)	Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00327)|Epithelial(262;0.174)	Human Serum Albumin(DB00062)|Serum albumin iodonated(DB00064)	CCAGCAGACCGAGTGGCAGAG	0.637																																						ENST00000252486.4																			0				large_intestine(1)|lung(2)|prostate(1)	4						c.(109-111)Gag>Tag		apolipoprotein E	Human Serum Albumin(DB00062)|Serum albumin iodonated(DB00064)						33	33	33					19																	45411082		2203	4300	6503	SO:0001587	stop_gained	348				anti-apoptosis|Cdc42 protein signal transduction|cell death|cGMP-mediated signaling|cholesterol efflux|cholesterol homeostasis|chylomicron remnant clearance|cytoskeleton organization|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|high-density lipoprotein particle clearance|high-density lipoprotein particle remodeling|induction of apoptosis|intracellular transport|negative regulation of blood vessel endothelial cell migration|negative regulation of cholesterol biosynthetic process|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of platelet activation|nitric oxide mediated signal transduction|phospholipid efflux|positive regulation of cGMP biosynthetic process|positive regulation of cholesterol efflux|positive regulation of cholesterol esterification|positive regulation of low-density lipoprotein particle receptor catabolic process|positive regulation of membrane protein ectodomain proteolysis|positive regulation of nitric-oxide synthase activity|receptor-mediated endocytosis|regulation of axon extension|regulation of neuronal synaptic plasticity|response to reactive oxygen species|reverse cholesterol transport|synaptic transmission, cholinergic|triglyceride metabolic process|very-low-density lipoprotein particle clearance|very-low-density lipoprotein particle remodeling	chylomicron|dendrite|high-density lipoprotein particle|intermediate-density lipoprotein particle|low-density lipoprotein particle|neuronal cell body|very-low-density lipoprotein particle	antioxidant activity|beta-amyloid binding|heparin binding|low-density lipoprotein particle receptor binding|metal chelating activity|phosphatidylcholine-sterol O-acyltransferase activator activity|phospholipid binding|protein heterodimerization activity|protein homodimerization activity|tau protein binding|very-low-density lipoprotein particle receptor binding	g.chr19:45411082G>T	K00396	CCDS12647.1	19q13.31	2013-01-24			ENSG00000130203	ENSG00000130203		"Apolipoproteins"	613	protein-coding gene	gene with protein product		107741	"Alzheimer disease 2 (APOE*E4-associated, late onset)"	AD2		10662539	Standard	NM_000041		Approved		uc002pab.3	P02649	OTTHUMG00000128901	ENST00000252486.4:c.109G>T	19.37:g.45411082G>T	ENSP00000252486:p.Glu37*						p.E37*	NM_000041.2	NP_000032.1	P02649	APOE_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00327)|Epithelial(262;0.174)	3	220	+	Lung NSC(12;0.0018)|all_lung(12;0.00481)	Ovarian(192;0.0728)|all_neural(266;0.112)	37					B2RC15|C0JYY5|Q9P2S4	Nonsense_Mutation	SNP	ENST00000252486.4	37	c.109G>T	CCDS12647.1	.	.	.	.	.	.	.	.	.	.	G	13.17	2.156979	0.38119	.	.	ENSG00000130203	ENST00000252486;ENST00000446996;ENST00000434152;ENST00000425718	.	.	.	3.16	-6.31	0.02001	.	3.503120	0.01224	N	0.008168	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.13470	T	0.59	-0.6965	7.6611	0.28404	0.2208:0.5792:0.2:0.0	.	.	.	.	X	37;37;82;37	.	ENSP00000252486:E37X	E	+	1	0	APOE	50102922	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.273000	0.02823	-1.245000	0.02513	0.561000	0.74099	GAG		0.637	APOE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250865.2	NM_000041		3	26	1	0	1	1	1	3	26					T	45411082	G	T	45411082	4	4	324	1	0	0	0	0	0	1	0	0	802	1059	37	5	115	5	APOE	19	45411082	Nonsense_Mutation	SNP	G	TCGA-KK-A7AW-01A-11D-A32B-08		45411082	13717901	46	16598											
FASTKD5	60493	broad.mit.edu	37	chr20	3129265	3129265	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gattattttgattaactctgActttgtgcaaaattagttca	12	18	6	5	0	2	2	1	2	1	0	2	3	2	2	0	0	2	2	0	0	5	7			TCGA-KK-A7AW-01A-11D-A32B-08	TCGA-KK-A7AW-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a20984a-dea3-4ed4-a100-2b1d193eb825	f746f8be-5ee1-4d6c-9d56-acab7b56ab3b	g.chr20:3129265A>G	ENST00000380266.3	-	2	773	c.452T>C	c.(451-453)gTc>gCc	p.V151A	UBOX5-AS1_ENST00000446537.1_RNA|UBOX5_ENST00000348031.2_Intron|UBOX5_ENST00000217173.2_Intron	NM_021826.4	NP_068598.1	Q7L8L6	FAKD5_HUMAN	FAST kinase domains 5	151					cellular respiration (GO:0045333)	mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)			breast(2)|endometrium(2)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(2)	19						ATTAACTCTGACTTTGTGCAA	0.428																																						ENST00000380266.3																			0				breast(2)|endometrium(2)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(2)	19						c.(451-453)gTc>gCc		FAST kinase domains 5							89	85	86					20																	3129265		2203	4300	6503	SO:0001583	missense	60493				apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity	g.chr20:3129265A>G	BC007413	CCDS13048.1	20p13	2006-07-07			ENSG00000215251	ENSG00000215251			25790	protein-coding gene	gene with protein product		614272				11347906	Standard	NM_021826		Approved	FLJ13149	uc002whz.4	Q7L8L6	OTTHUMG00000031727	ENST00000380266.3:c.452T>C	20.37:g.3129265A>G	ENSP00000369618:p.Val151Ala					UBOX5_ENST00000348031.2_Intron|UBOX5_ENST00000217173.2_Intron|UBOX5-AS1_ENST00000446537.1_RNA	p.V151A	NM_021826.4	NP_068598.1	Q7L8L6	FAKD5_HUMAN			2	773	-			151					Q96JN3|Q9H5D1|Q9H8Y3	Missense_Mutation	SNP	ENST00000380266.3	37	c.452T>C	CCDS13048.1	.	.	.	.	.	.	.	.	.	.	A	12.17	1.858470	0.32791	.	.	ENSG00000215251	ENST00000380266	T	0.26518	1.73	5.8	4.72	0.59763	.	0.224065	0.22269	U	0.062296	T	0.17534	0.0421	L	0.34521	1.04	0.39944	D	0.974451	B	0.32653	0.379	B	0.30943	0.122	T	0.07290	-1.0780	10	0.15066	T	0.55	.	11.2716	0.49142	0.9291:0.0:0.0709:0.0	.	151	Q7L8L6	FAKD5_HUMAN	A	151	ENSP00000369618:V151A	ENSP00000369618:V151A	V	-	2	0	FASTKD5	3077265	1.000000	0.71417	0.977000	0.42913	0.544000	0.35116	4.959000	0.63666	2.203000	0.70933	0.460000	0.39030	GTC		0.428	FASTKD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077701.2	NM_021826		3	56	0	0	0	1	0	3	56					G	3129265	A	G	3129265	3	3	324	1	0	0	0	0	1	0	0	0	5688	275	10	4	1846	4	FASTKD5	20	3129265	Missense_Mutation	SNP	A	TCGA-KK-A7AW-01A-11D-A32B-08		3129265	59896255	47	16599											
GAB4	128954	broad.mit.edu	37	chr22	17444669	17444669	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgttaccagtgctcctcggCggggctgaactgctggtgcc	5	10	14	12	2	0	1	0	1	0	0	2	1	1	1	3	4	5	4	3	4	2	1			TCGA-KK-A7AW-01A-11D-A32B-08	TCGA-KK-A7AW-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a20984a-dea3-4ed4-a100-2b1d193eb825	f746f8be-5ee1-4d6c-9d56-acab7b56ab3b	g.chr22:17444669C>T	ENST00000400588.1	-	9	1634	c.1527G>A	c.(1525-1527)ccG>ccA	p.P509P		NM_001037814.1	NP_001032903.1	Q2WGN9	GAB4_HUMAN	GRB2-associated binding protein family, member 4	509										breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(24)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44		all_epithelial(15;0.112)|Lung NSC(13;0.248)				TGCTCCTCGGCGGGGCTGAAC	0.617																																						ENST00000400588.1																			0				breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(24)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44						c.(1525-1527)ccG>ccA		GRB2-associated binding protein family, member 4							46	54	52					22																	17444669		1988	4189	6177	SO:0001819	synonymous_variant	128954							g.chr22:17444669C>T	AK057252	CCDS42976.1	22q11.2	2013-01-10			ENSG00000215568	ENSG00000215568		"Pleckstrin homology (PH) domain containing"	18325	protein-coding gene	gene with protein product							Standard	NM_001037814		Approved		uc002zlw.3	Q2WGN9	OTTHUMG00000149992	ENST00000400588.1:c.1527G>A	22.37:g.17444669C>T							p.P509P	NM_001037814.1	NP_001032903.1	Q2WGN9	GAB4_HUMAN			9	1634	-		all_epithelial(15;0.112)|Lung NSC(13;0.248)	509						Silent	SNP	ENST00000400588.1	37	c.1527G>A	CCDS42976.1																																																																																				0.617	GAB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315426.1	XM_372882		4	32	0	0	0	1	0	4	32					T	17444669	C	T	17444669	2	4	324	1	0	0	0	0	0	0	0	1	6151	755	27	1		1	GAB4	22	17444669	Silent	SNP	C	TCGA-KK-A7AW-01A-11D-A32B-08		17444669	33859897	48	16600											
HIC2	23119	broad.mit.edu	37	chr22	21800526	21800526	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtatgtgtgcattccctgcGccaagggcttccccagctct	5	12	10	14	1	1	0	0	0	1	0	3	0	3	0	4	1	3	4	4	1	2	3			TCGA-KK-A7AW-01A-11D-A32B-08	TCGA-KK-A7AW-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a20984a-dea3-4ed4-a100-2b1d193eb825	f746f8be-5ee1-4d6c-9d56-acab7b56ab3b	g.chr22:21800526G>A	ENST00000443632.2	+	2	1714	c.1342G>A	c.(1342-1344)Gcc>Acc	p.A448T	HIC2_ENST00000407464.2_Missense_Mutation_p.A448T|HIC2_ENST00000407598.2_Missense_Mutation_p.A448T			Q96JB3	HIC2_HUMAN	hypermethylated in cancer 2	448					negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)			NS(1)|endometrium(4)|large_intestine(1)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16	Melanoma(16;0.000465)|Ovarian(15;0.00438)|Colorectal(54;0.0968)	Lung SC(17;0.0262)|all_lung(157;0.205)				CATTCCCTGCGCCAAGGGCTT	0.622																																					NSCLC(23;437 858 2282 27947 40366)	ENST00000443632.2																			0				NS(1)|endometrium(4)|large_intestine(1)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16						c.(1342-1344)Gcc>Acc		hypermethylated in cancer 2							87	78	81					22																	21800526		2203	4300	6503	SO:0001583	missense	23119				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	focal adhesion|nucleus	DNA binding|protein C-terminus binding|zinc ion binding	g.chr22:21800526G>A	AB028943	CCDS13789.1	22q11.21	2013-01-09			ENSG00000169635	ENSG00000169635		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	18595	protein-coding gene	gene with protein product		607712				11554746	Standard	NM_015094		Approved	KIAA1020, HRG22, ZBTB30, ZNF907	uc002zur.4	Q96JB3	OTTHUMG00000150781	ENST00000443632.2:c.1342G>A	22.37:g.21800526G>A	ENSP00000387757:p.Ala448Thr					HIC2_ENST00000407464.2_Missense_Mutation_p.A448T|HIC2_ENST00000407598.2_Missense_Mutation_p.A448T	p.A448T			Q96JB3	HIC2_HUMAN			2	1714	+	Melanoma(16;0.000465)|Ovarian(15;0.00438)|Colorectal(54;0.0968)	Lung SC(17;0.0262)|all_lung(157;0.205)	448					Q504T6|Q96KR3|Q9NSM9|Q9UPX9	Missense_Mutation	SNP	ENST00000443632.2	37	c.1342G>A	CCDS13789.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.179347	0.78564	.	.	ENSG00000169635	ENST00000407464;ENST00000407598;ENST00000443632	T;T;T	0.10005	2.92;2.92;2.92	4.72	4.72	0.59763	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.055512	0.64402	D	0.000001	T	0.13970	0.0338	N	0.17278	0.47	0.31384	N	0.678666	D	0.61697	0.99	P	0.54431	0.752	T	0.01684	-1.1296	10	0.87932	D	0	.	15.2075	0.73190	0.0:0.0:1.0:0.0	.	448	Q96JB3	HIC2_HUMAN	T	448	ENSP00000385319:A448T;ENSP00000384889:A448T;ENSP00000387757:A448T	ENSP00000385319:A448T	A	+	1	0	HIC2	20130526	1.000000	0.71417	0.998000	0.56505	0.989000	0.77384	9.537000	0.98070	2.459000	0.83118	0.655000	0.94253	GCC		0.622	HIC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320061.2			13	75	0	0	0	1	0	13	75					A	21800526	G	A	21800526	3	1	324	1	0	0	0	0	1	0	0	0	7102	1087	38	1	1348	1	HIC2	22	21800526	Missense_Mutation	SNP	G	TCGA-KK-A7AW-01A-11D-A32B-08	4355857	21800526	29504040	49	16601											
CSF2RA	1438	broad.mit.edu	37	chrX	1407766	1407766	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgacgtccagtattttttgtAcatacgaaactcaaagtaag	14	13	7	7	2	1	1	1	1	0	0	2	2	2	1	1	0	3	3	1	0	6	7			TCGA-KK-A7AW-01A-11D-A32B-08	TCGA-KK-A7AW-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a20984a-dea3-4ed4-a100-2b1d193eb825	f746f8be-5ee1-4d6c-9d56-acab7b56ab3b	g.chrX:1407766A>C	ENST00000381524.3	+	6	644	c.458A>C	c.(457-459)tAc>tCc	p.Y153S	CSF2RA_ENST00000381529.3_Missense_Mutation_p.Y153S|CSF2RA_ENST00000355805.2_Missense_Mutation_p.Y153S|CSF2RA_ENST00000381509.3_Missense_Mutation_p.Y153S|CSF2RA_ENST00000355432.3_Missense_Mutation_p.Y153S|CSF2RA_ENST00000494969.2_Intron|CSF2RA_ENST00000501036.2_Missense_Mutation_p.Y20S|CSF2RA_ENST00000381500.1_Missense_Mutation_p.Y153S|BX649553.3_ENST00000581137.1_RNA|CSF2RA_ENST00000432318.2_Missense_Mutation_p.Y153S|CSF2RA_ENST00000417535.2_Missense_Mutation_p.Y153S|CSF2RA_ENST00000361536.3_Missense_Mutation_p.Y153S			P15509	CSF2R_HUMAN	colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage)	153					response to ethanol (GO:0045471)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cytokine receptor activity (GO:0004896)|receptor activity (GO:0004872)			central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(6)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	45		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Sargramostim(DB00020)	TATTTTTTGTACATACGAAAC	0.433																																					Esophageal Squamous(131;723 1707 25334 40494 41806)	ENST00000381524.3																			0				central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(6)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	45						c.(457-459)tAc>tCc		colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage)	Sargramostim(DB00020)						91	100	97					X																	1407766		2203	4296	6499	SO:0001583	missense	0					extracellular region|integral to plasma membrane	cytokine receptor activity	g.chrX:1407766A>C	M64445	CCDS35190.1, CCDS35191.1, CCDS35192.1, CCDS35193.1, CCDS55359.1, CCDS55360.1, CCDS55361.1	Xp22.32 and Yp11.3	2014-09-17			ENSG00000198223	ENSG00000198223		"CD molecules", "Pseudoautosomal regions / PAR1"	2435	protein-coding gene	gene with protein product		306250, 425000		CSF2R		1702217	Standard	NM_006140		Approved	CD116	uc010ncv.2	P15509	OTTHUMG00000012533	ENST00000381524.3:c.458A>C	X.37:g.1407766A>C	ENSP00000370935:p.Tyr153Ser					CSF2RA_ENST00000501036.2_Missense_Mutation_p.Y20S|CSF2RA_ENST00000381529.3_Missense_Mutation_p.Y153S|CSF2RA_ENST00000381500.1_Missense_Mutation_p.Y153S|CSF2RA_ENST00000361536.3_Missense_Mutation_p.Y153S|CSF2RA_ENST00000381509.3_Missense_Mutation_p.Y153S|CSF2RA_ENST00000432318.2_Missense_Mutation_p.Y153S|CSF2RA_ENST00000355432.3_Missense_Mutation_p.Y153S|CSF2RA_ENST00000417535.2_Missense_Mutation_p.Y153S|CSF2RA_ENST00000355805.2_Missense_Mutation_p.Y153S	p.Y153S			P15509	CSF2R_HUMAN			6	644	+		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)	153					A7J003|A8KAM1|B4DW68|J3JS76|J3JS77|O00207|Q14429|Q14430|Q14431|Q16564	Missense_Mutation	SNP	ENST00000381524.3	37	c.458A>C	CCDS35191.1	.	.	.	.	.	.	.	.	.	.	.	10.77	1.442773	0.25987	.	.	ENSG00000198223	ENST00000381529;ENST00000432318;ENST00000361536;ENST00000381507;ENST00000501036;ENST00000381524;ENST00000412290;ENST00000419094;ENST00000381509;ENST00000355805;ENST00000355432;ENST00000417535;ENST00000381500	D;D;D;D;D;D;D;D;D;D;D;D	0.86230	-2.09;-2.09;-2.09;-2.09;-2.09;-2.09;-2.09;-2.09;-2.09;-2.09;-2.09;-2.09	2.02	-1.51	0.08664	Interleukin-6 receptor alpha chain, binding (1);Fibronectin, type III (1);Short hematopoietin receptor, family 2, conserved site (1);Immunoglobulin-like fold (1);	0.130025	0.31392	U	0.007736	D	0.86690	0.5993	.	.	.	0.09310	N	1	P;D;D;B;P;P	0.56521	0.824;0.959;0.976;0.22;0.936;0.948	P;P;P;B;P;P	0.56960	0.474;0.81;0.793;0.068;0.64;0.754	T	0.78081	-0.2343	9	0.66056	D	0.02	.	2.5303	0.04701	0.4607:0.271:0.0:0.2683	.	153;153;153;153;153;153	P15509-2;A7J003;P15509-3;P15509-6;P15509-5;P15509	.;.;.;.;.;CSF2R_HUMAN	S	153;153;153;153;20;153;153;153;153;153;153;153;153	ENSP00000370940:Y153S;ENSP00000416437:Y153S;ENSP00000354836:Y153S;ENSP00000440491:Y20S;ENSP00000370935:Y153S;ENSP00000410667:Y153S;ENSP00000397452:Y153S;ENSP00000370920:Y153S;ENSP00000348058:Y153S;ENSP00000347606:Y153S;ENSP00000394227:Y153S;ENSP00000370911:Y153S	ENSP00000347606:Y153S	Y	+	2	0	CSF2RA	1367766	0.366000	0.25014	0.000000	0.03702	0.208000	0.24298	0.586000	0.23894	-0.548000	0.06199	-1.168000	0.01747	TAC		0.433	CSF2RA-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000035013.2			7	92	0	0	0	1	0	7	92					C	1407766	A	C	1407766	3	2	324	1	0	0	0	0	1	0	0	0	3934	391	14	5	472	5	CSF2RA	23	1407766	Missense_Mutation	SNP	A	TCGA-KK-A7AW-01A-11D-A32B-08		1407766	153862794	50	16602											
RLIM	51132	broad.mit.edu	37	chrX	73811348	73811348	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gacaggtagaattctcagatAaccagcgatcgatgcagtgg	13	8	12	8	2	1	2	1	0	1	2	3	5	1	2	1	2	3	2	1	2	3	3			TCGA-KK-A7AW-01A-11D-A32B-08	TCGA-KK-A7AW-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a20984a-dea3-4ed4-a100-2b1d193eb825	f746f8be-5ee1-4d6c-9d56-acab7b56ab3b	g.chrX:73811348A>G	ENST00000332687.6	-	4	2020	c.1802T>C	c.(1801-1803)tTa>tCa	p.L601S	RLIM_ENST00000349225.2_Missense_Mutation_p.L601S	NM_016120.3	NP_057204.2	Q9NVW2	RNF12_HUMAN	ring finger protein, LIM domain interacting	601					negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|protein ubiquitination (GO:0016567)|random inactivation of X chromosome (GO:0060816)|transcription, DNA-templated (GO:0006351)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	ligase activity (GO:0016874)|transcription corepressor activity (GO:0003714)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						ATTCTCAGATAACCAGCGATC	0.408																																					Esophageal Squamous(169;1899 1923 14997 18818 32118)	ENST00000332687.6																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						c.(1801-1803)tTa>tCa		ring finger protein, LIM domain interacting							109	90	97					X																	73811348		2203	4300	6503	SO:0001583	missense	51132				random inactivation of X chromosome|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	cytoplasm|transcriptional repressor complex	transcription corepressor activity|ubiquitin-protein ligase activity|zinc ion binding	g.chrX:73811348A>G	AF155109	CCDS14427.1	Xq13-q21	2013-01-09	2009-02-17	2009-02-17	ENSG00000131263	ENSG00000131263		"RING-type (C3HC4) zinc fingers"	13429	protein-coding gene	gene with protein product	"ring zinc finger protein NY-REN-43antigen", "LIM domain interacting ring finger protein"	300379	"ring finger protein 12"	RNF12		10508479	Standard	NM_016120		Approved	NY-REN-43, MGC15161	uc004ebw.3	Q9NVW2	OTTHUMG00000021859	ENST00000332687.6:c.1802T>C	X.37:g.73811348A>G	ENSP00000328059:p.Leu601Ser					RLIM_ENST00000349225.2_Missense_Mutation_p.L601S	p.L601S	NM_016120.3	NP_057204.2	Q9NVW2	RNF12_HUMAN			4	2020	-			601					B2RBQ1|D3DTE0|Q96D38|Q9Y598	Missense_Mutation	SNP	ENST00000332687.6	37	c.1802T>C	CCDS14427.1	.	.	.	.	.	.	.	.	.	.	A	16.38	3.108437	0.56291	.	.	ENSG00000131263	ENST00000332687;ENST00000349225	T;T	0.55234	0.53;0.53	5.41	5.41	0.78517	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);Zinc finger, RING-H2-type (1);	0.000000	0.64402	D	0.000001	T	0.81069	0.4746	H	0.95982	3.75	0.58432	D	0.999998	D	0.89917	1.0	D	0.97110	1.0	D	0.87233	0.2261	10	0.87932	D	0	-14.6625	14.5727	0.68224	1.0:0.0:0.0:0.0	.	601	Q9NVW2	RNF12_HUMAN	S	601	ENSP00000328059:L601S;ENSP00000253571:L601S	ENSP00000328059:L601S	L	-	2	0	RLIM	73728073	1.000000	0.71417	0.985000	0.45067	0.997000	0.91878	8.906000	0.92626	1.821000	0.53095	0.486000	0.48141	TTA		0.408	RLIM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057268.1	NM_016120		43	6	0	0	0	1	0	43	6					G	73811348	A	G	73811348	3	3	324	1	0	0	0	0	1	0	0	0	13390	372	13	4	76	4	RLIM	23	73811348	Missense_Mutation	SNP	A	TCGA-KK-A7AW-01A-11D-A32B-08	72403582	73811348	81459212	51	16603											
CYP4Z1	199974	broad.mit.edu	37	chr1	47583591	47583591	+	Frame_Shift_Del	DEL	A	A	-																															aatggaatccatgtgtttgcAaaaaaagtttgctaatttta																										TCGA-KK-A7AY-01A-11D-A33T-08	TCGA-KK-A7AY-11A-21D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80ac0a78-2ebc-488d-a0db-c2fda0b57966	258a8d92-ed5a-4028-a93f-28b61fa48dec	g.chr1:47583591delA	ENST00000334194.3	+	12	1506	c.1503delA	c.(1501-1503)gcafs	p.A501fs	CYP4A22-AS1_ENST00000444042.2_lincRNA|CYP4Z1_ENST00000471598.1_3'UTR	NM_178134.2	NP_835235.1	Q86W10	CP4Z1_HUMAN	cytochrome P450, family 4, subfamily Z, polypeptide 1	501						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			cervix(1)|large_intestine(4)|lung(4)|skin(1)|stomach(1)	11						ATGTGTTTGCAAAAAAAGTTT	0.383																																						ENST00000334194.3																			0				cervix(1)|large_intestine(4)|lung(4)|skin(1)|stomach(1)	11						c.(1501-1503)gcfs		cytochrome P450, family 4, subfamily Z, polypeptide 1							53	48	50					1																	47583591		2203	4300	6503	SO:0001589	frameshift_variant	199974					endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding	g.chr1:47583591delA	AY262056	CCDS545.1	1p33	2008-02-05			ENSG00000186160	ENSG00000186160		"Cytochrome P450s"	20583	protein-coding gene	gene with protein product						15059886	Standard	NM_178134		Approved	CYP4A20	uc001cqu.1	Q86W10	OTTHUMG00000008019	ENST00000334194.3:c.1503delA	1.37:g.47583591delA	ENSP00000334246:p.Ala501fs					CYP4A22-AS1_ENST00000444042.2_lincRNA|CYP4Z1_ENST00000471598.1_3'UTR	p.A501fs	NM_178134.2	NP_835235.1	Q86W10	CP4Z1_HUMAN			12	1506	+			501					Q5VVE4	Frame_Shift_Del	DEL	ENST00000334194.3	37	c.1503delA	CCDS545.1																																																																																				0.383	CYP4Z1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022020.1	NM_178134		7	27						7	27	---	---	---	---	-	47583591	A	-	47583591	7	5	325	1	0	1	0	1	0	0	0	0	4194	117	5	0	1549	0	CYP4Z1	1	47583591	Frame_Shift_Del	DEL	A	TCGA-KK-A7AY-01A-11D-A33T-08		47583591	201667030	1	16604											
LCE2C	353140	broad.mit.edu	37	chr1	152648603	152648603	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aatgcccaccacagtgcccaGctccatgtttccctgcagtc	8	9	7	17	0	0	0	0	0	0	0	3	0	2	0	5	0	4	3	5	0	1	1			TCGA-KK-A7AY-01A-11D-A33T-08	TCGA-KK-A7AY-11A-21D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80ac0a78-2ebc-488d-a0db-c2fda0b57966	258a8d92-ed5a-4028-a93f-28b61fa48dec	g.chr1:152648603G>T	ENST00000368783.1	+	2	167	c.112G>T	c.(112-114)Gct>Tct	p.A38S	LCE2B_ENST00000417924.2_Intron	NM_178429.2	NP_848516.1	Q5TA81	LCE2C_HUMAN	late cornified envelope 2C	38	Cys-rich.				keratinization (GO:0031424)					endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)	13	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			ACAGTGCCCAGCTCCATGTTT	0.617																																						ENST00000368783.1																			0				endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)	13						c.(112-114)Gct>Tct		late cornified envelope 2C							129	138	135					1																	152648603		2203	4300	6503	SO:0001583	missense	353140				keratinization			g.chr1:152648603G>T		CCDS1019.1	1q21.3	2008-02-05			ENSG00000187180	ENSG00000187180		"Late cornified envelopes"	29460	protein-coding gene	gene with protein product		612611				11698679	Standard	NM_178429		Approved	LEP11	uc001fah.4	Q5TA81	OTTHUMG00000012389	ENST00000368783.1:c.112G>T	1.37:g.152648603G>T	ENSP00000357772:p.Ala38Ser					LCE2B_ENST00000417924.2_Intron	p.A38S	NM_178429.2	NP_848516.1	Q5TA81	LCE2C_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	167	+	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		38			Cys-rich.			Missense_Mutation	SNP	ENST00000368783.1	37	c.112G>T	CCDS1019.1	.	.	.	.	.	.	.	.	.	.	G	3.996	-0.003448	0.07773	.	.	ENSG00000187180	ENST00000368783	T	0.03831	3.79	2.47	2.47	0.30058	.	.	.	.	.	T	0.02267	0.0070	L	0.35644	1.08	0.20074	N	0.999937	P	0.41947	0.766	B	0.43386	0.418	T	0.44159	-0.9346	9	0.87932	D	0	.	8.4121	0.32648	0.0:0.0:1.0:0.0	.	38	Q5TA81	LCE2C_HUMAN	S	38	ENSP00000357772:A38S	ENSP00000357772:A38S	A	+	1	0	LCE2C	150915227	0.011000	0.17503	0.626000	0.29213	0.223000	0.24884	0.660000	0.25009	1.381000	0.46364	0.563000	0.77884	GCT		0.617	LCE2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034509.1	NM_178429		63	91	1	0	2.18419e-29	1	2.33228e-29	63	91					T	152648603	G	T	152648603	3	4	325	1	0	0	0	0	1	0	0	0	8667	971	34	5	114	5	LCE2C	1	152648603	Missense_Mutation	SNP	G	TCGA-KK-A7AY-01A-11D-A33T-08	105065012	152648603	96602018	2	16605											
PTPRC	5788	broad.mit.edu	37	chr1	198719693	198719693	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccattggtgacttttggcagAtgatcttccaaagaaaagtc	12	12	9	8	0	1	4	0	2	1	2	3	4	2	4	2	2	0	1	2	2	3	4			TCGA-KK-A7AY-01A-11D-A33T-08	TCGA-KK-A7AY-11A-21D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80ac0a78-2ebc-488d-a0db-c2fda0b57966	258a8d92-ed5a-4028-a93f-28b61fa48dec	g.chr1:198719693A>G	ENST00000367376.2	+	29	3310	c.3139A>G	c.(3139-3141)Atg>Gtg	p.M1047V	PTPRC_ENST00000594404.1_Missense_Mutation_p.M886V|PTPRC_ENST00000442510.2_Missense_Mutation_p.M1049V|PTPRC_ENST00000348564.6_Missense_Mutation_p.M888V|PTPRC_ENST00000352140.3_Missense_Mutation_p.M999V	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	1047	Tyrosine-protein phosphatase 2. {ECO:0000255|PROSITE-ProRule:PRU00160}.				axon guidance (GO:0007411)|B cell proliferation (GO:0042100)|B cell receptor signaling pathway (GO:0050853)|bone marrow development (GO:0048539)|cell cycle phase transition (GO:0044770)|cell surface receptor signaling pathway (GO:0007166)|defense response to virus (GO:0051607)|dephosphorylation (GO:0016311)|hematopoietic progenitor cell differentiation (GO:0002244)|immunoglobulin biosynthetic process (GO:0002378)|negative regulation of cell adhesion involved in substrate-bound cell migration (GO:0006933)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of T cell mediated cytotoxicity (GO:0001915)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of antigen receptor-mediated signaling pathway (GO:0050857)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of hematopoietic stem cell migration (GO:2000473)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of stem cell proliferation (GO:2000648)|positive regulation of T cell proliferation (GO:0042102)|protein dephosphorylation (GO:0006470)|regulation of cell cycle (GO:0051726)|release of sequestered calcium ion into cytosol (GO:0051209)|stem cell development (GO:0048864)|T cell differentiation (GO:0030217)|T cell receptor signaling pathway (GO:0050852)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						CTTTTGGCAGATGATCTTCCA	0.403																																						ENST00000367376.2																			0				breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						c.(3139-3141)Atg>Gtg		protein tyrosine phosphatase, receptor type, C							149	146	147					1																	198719693		2203	4300	6503	SO:0001583	missense	5788				axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway	focal adhesion|integral to plasma membrane|membrane raft	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr1:198719693A>G	Y00062	CCDS1397.1, CCDS1398.1, CCDS44291.1, CCDS1397.2, CCDS1398.2, CCDS44291.2	1q31-q32	2014-09-17			ENSG00000081237	ENSG00000081237		"CD molecules", "Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Fibronectin type III domain containing"	9666	protein-coding gene	gene with protein product		151460		CD45		2169617	Standard	NM_001267798		Approved	LCA, T200, GP180	uc001gur.2	P08575	OTTHUMG00000035702	ENST00000367376.2:c.3139A>G	1.37:g.198719693A>G	ENSP00000356346:p.Met1047Val					PTPRC_ENST00000594404.1_Missense_Mutation_p.M886V|PTPRC_ENST00000352140.3_Missense_Mutation_p.M999V|PTPRC_ENST00000348564.6_Missense_Mutation_p.M888V|PTPRC_ENST00000442510.2_Missense_Mutation_p.M1049V	p.M1047V	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN			29	3310	+			1047			Tyrosine-protein phosphatase 2.		A8K7W6|Q16614|Q9H0Y6	Missense_Mutation	SNP	ENST00000367376.2	37	c.3139A>G		.	.	.	.	.	.	.	.	.	.	A	19.15	3.771646	0.69992	.	.	ENSG00000081237	ENST00000367376;ENST00000352140;ENST00000442510;ENST00000348564	T	0.21734	1.99	5.79	4.67	0.58626	Protein-tyrosine phosphatase, receptor/non-receptor type (3);	0.000000	0.56097	D	0.000035	T	0.50309	0.1608	M	0.87381	2.88	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	T	0.56780	-0.7922	10	0.87932	D	0	.	11.7866	0.52045	0.9317:0.0:0.0683:0.0	.	888;999;1047	B1ALS3;E9PC28;P08575	.;.;PTPRC_HUMAN	V	1049;999;1047;886	ENSP00000193532:M999V	ENSP00000306782:M886V	M	+	1	0	PTPRC	196986316	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	7.021000	0.76425	1.037000	0.40024	0.455000	0.32223	ATG		0.403	PTPRC-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding				40	62	0	0	0	1	0	40	62					G	198719693	A	G	198719693	3	3	325	1	0	0	0	0	1	0	0	0	12797	333	12	4	3260	4	PTPRC	1	198719693	Missense_Mutation	SNP	A	TCGA-KK-A7AY-01A-11D-A33T-08	46071090	198719693	50530928	3	16606											
LYPLAL1	127018	broad.mit.edu	37	chr1	219347260	219347260	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctgcgtcggggtcggttctgCagcgctgtatcgtgtcgccg	2	11	16	12	7	1	0	0	0	1	0	5	0	1	0	1	3	3	4	1	3	1	2			TCGA-KK-A7AY-01A-11D-A33T-08	TCGA-KK-A7AY-11A-21D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80ac0a78-2ebc-488d-a0db-c2fda0b57966	258a8d92-ed5a-4028-a93f-28b61fa48dec	g.chr1:219347260C>T	ENST00000366928.5	+	1	75	c.28C>T	c.(28-30)Cag>Tag	p.Q10*	LYPLAL1_ENST00000483635.1_3'UTR|RP11-135J2.4_ENST00000441331.1_RNA|LYPLAL1_ENST00000366927.3_Nonsense_Mutation_p.Q10*	NM_138794.3	NP_620149	Q5VWZ2	LYPL1_HUMAN	lysophospholipase-like 1	10					negative regulation of Golgi to plasma membrane protein transport (GO:0042997)|protein depalmitoylation (GO:0002084)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	lysophospholipase activity (GO:0004622)			large_intestine(1)|lung(5)	6				GBM - Glioblastoma multiforme(131;0.055)|all cancers(67;0.105)|OV - Ovarian serous cystadenocarcinoma(81;0.116)		GTCGGTTCTGCAGCGCTGTAT	0.627																																						ENST00000366928.5																			0				large_intestine(1)|lung(5)	6						c.(28-30)Cag>Tag		lysophospholipase-like 1							61	55	57					1																	219347260		2203	4300	6503	SO:0001587	stop_gained	127018					cytoplasm	lysophospholipase activity	g.chr1:219347260C>T	BC016711	CCDS1522.1, CCDS73032.1	1q41	2008-02-05			ENSG00000143353	ENSG00000143353			20440	protein-coding gene	gene with protein product							Standard	XM_005273046		Approved	Q96AV0	uc001hlq.4	Q5VWZ2	OTTHUMG00000037141	ENST00000366928.5:c.28C>T	1.37:g.219347260C>T	ENSP00000355895:p.Gln10*					LYPLAL1_ENST00000483635.1_3'UTR|LYPLAL1_ENST00000366927.3_Nonsense_Mutation_p.Q10*|RP11-135J2.4_ENST00000441331.1_RNA	p.Q10*	NM_138794.3	NP_620149.1	Q5VWZ2	LYPL1_HUMAN		GBM - Glioblastoma multiforme(131;0.055)|all cancers(67;0.105)|OV - Ovarian serous cystadenocarcinoma(81;0.116)	1	75	+			10					A8K677|Q5VWZ3|Q7Z4A3|Q96AV0	Nonsense_Mutation	SNP	ENST00000366928.5	37	c.28C>T	CCDS1522.1	.	.	.	.	.	.	.	.	.	.	C	28.0	4.877864	0.91664	.	.	ENSG00000143353	ENST00000366928;ENST00000366927	.	.	.	4.99	3.07	0.35406	.	1.818590	0.04189	U	0.327966	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.10377	T	0.69	.	6.8471	0.23994	0.0:0.7277:0.1773:0.095	.	.	.	.	X	10	.	ENSP00000355894:Q10X	Q	+	1	0	LYPLAL1	217413883	0.653000	0.27358	0.001000	0.08648	0.042000	0.13812	3.868000	0.56055	0.776000	0.33473	0.591000	0.81541	CAG		0.627	LYPLAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090208.1	NM_138794		19	32	0	0	0	1	0	19	32					T	219347260	C	T	219347260	4	4	325	1	0	0	0	0	0	1	0	0	9118	711	25	3	30	3	LYPLAL1	1	219347260	Nonsense_Mutation	SNP	C	TCGA-KK-A7AY-01A-11D-A33T-08	20627567	219347260	29903361	4	16607											
NID1	4811	broad.mit.edu	37	chr1	236143233	236143233	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gactggggttcaggcattccGcccgattggtgcctgtgtgg	4	11	16	10	2	1	0	1	0	0	0	2	2	2	0	3	5	1	2	3	5	0	3			TCGA-KK-A7AY-01A-11D-A33T-08	TCGA-KK-A7AY-11A-21D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80ac0a78-2ebc-488d-a0db-c2fda0b57966	258a8d92-ed5a-4028-a93f-28b61fa48dec	g.chr1:236143233G>A	ENST00000264187.6	-	18	3480	c.3398C>T	c.(3397-3399)gCg>gTg	p.A1133V	NID1_ENST00000366595.3_Missense_Mutation_p.A1000V	NM_002508.2	NP_002499.2	P14543	NID1_HUMAN	nidogen 1	1133					basement membrane organization (GO:0071711)|cell-matrix adhesion (GO:0007160)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glomerular basement membrane development (GO:0032836)|positive regulation of cell-substrate adhesion (GO:0010811)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|cell periphery (GO:0071944)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|laminin binding (GO:0043236)|proteoglycan binding (GO:0043394)			breast(4)|endometrium(9)|kidney(1)|large_intestine(23)|lung(20)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(1)	66	Ovarian(103;0.0544)|Breast(184;0.23)	all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		Urokinase(DB00013)	CAGGCATTCCGCCCGATTGGT	0.493																																						ENST00000264187.6																			0				breast(4)|endometrium(9)|kidney(1)|large_intestine(23)|lung(20)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(1)	66						c.(3397-3399)gCg>gTg		nidogen 1	Becaplermin(DB00102)|Urokinase(DB00013)						82	79	80					1																	236143233		2203	4300	6503	SO:0001583	missense	4811				cell-matrix adhesion	basement membrane	calcium ion binding	g.chr1:236143233G>A	BC045606	CCDS1608.1	1q43	2011-05-08	2005-06-02	2005-06-02	ENSG00000116962	ENSG00000116962			7821	protein-coding gene	gene with protein product		131390	"nidogen (enactin)"	NID		2471408, 7557988	Standard	NM_002508		Approved	entactin	uc001hxo.3	P14543	OTTHUMG00000040071	ENST00000264187.6:c.3398C>T	1.37:g.236143233G>A	ENSP00000264187:p.Ala1133Val					NID1_ENST00000366595.3_Missense_Mutation_p.A1000V	p.A1133V	NM_002508.2	NP_002499.2	P14543	NID1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		18	3480	-	Ovarian(103;0.0544)|Breast(184;0.23)	all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229)	1133					Q14942|Q59FL2|Q5TAF2|Q5TAF3|Q86XD7	Missense_Mutation	SNP	ENST00000264187.6	37	c.3398C>T	CCDS1608.1	.	.	.	.	.	.	.	.	.	.	G	9.700	1.154133	0.21371	.	.	ENSG00000116962	ENST00000264187;ENST00000366595	T;T	0.22539	1.95;1.95	5.92	1.1	0.20463	Six-bladed beta-propeller, TolB-like (1);	0.469991	0.25756	N	0.028502	T	0.05227	0.0139	N	0.00648	-1.295	0.22754	N	0.998776	B;B	0.25390	0.125;0.023	B;B	0.08055	0.001;0.003	T	0.35871	-0.9771	10	0.35671	T	0.21	.	8.5724	0.33578	0.6091:0.0:0.3909:0.0	.	1000;1133	P14543-2;P14543	.;NID1_HUMAN	V	1133;1000	ENSP00000264187:A1133V;ENSP00000355554:A1000V	ENSP00000264187:A1133V	A	-	2	0	NID1	234209856	0.866000	0.29940	0.382000	0.26119	0.310000	0.27922	3.953000	0.56699	0.307000	0.22880	0.655000	0.94253	GCG		0.493	NID1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096647.2	NM_002508		30	32	0	0	0	1	0	30	32					A	236143233	G	A	236143233	3	1	325	1	0	0	0	0	1	0	0	0	10414	1087	38	1	357	1	NID1	1	236143233	Missense_Mutation	SNP	G	TCGA-KK-A7AY-01A-11D-A33T-08	16795973	236143233	13107388	5	16608											
CCDC85A	114800	broad.mit.edu	37	chr2	56599551	56599551	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aaggctgggggtccagagccCggcgggtcttgcagtggtgg	5	7	20	9	2	1	1	0	0	1	1	2	1	2	1	2	7	2	2	2	7	1	1			TCGA-KK-A7AY-01A-11D-A33T-08	TCGA-KK-A7AY-11A-21D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80ac0a78-2ebc-488d-a0db-c2fda0b57966	258a8d92-ed5a-4028-a93f-28b61fa48dec	g.chr2:56599551C>T	ENST00000407595.2	+	4	1892	c.1390C>T	c.(1390-1392)Cgg>Tgg	p.R464W	RP11-482H16.1_ENST00000607540.1_RNA	NM_001080433.1	NP_001073902.1	Q96PX6	CC85A_HUMAN	coiled-coil domain containing 85A	464										breast(6)|cervix(2)|endometrium(5)|kidney(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)	38			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			GTCCAGAGCCCGGCGGGTCTT	0.522																																						ENST00000407595.2																			0				breast(6)|cervix(2)|endometrium(5)|kidney(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)	38						c.(1390-1392)Cgg>Tgg		coiled-coil domain containing 85A							29	34	32					2																	56599551		1918	4118	6036	SO:0001583	missense	114800							g.chr2:56599551C>T	AB067499	CCDS46290.1	2p16.1	2006-03-29			ENSG00000055813	ENSG00000055813			29400	protein-coding gene	gene with protein product						11572484	Standard	NM_001080433		Approved	KIAA1912	uc002rzn.3	Q96PX6	OTTHUMG00000152033	ENST00000407595.2:c.1390C>T	2.37:g.56599551C>T	ENSP00000384040:p.Arg464Trp					RP11-482H16.1_ENST00000607540.1_RNA	p.R464W	NM_001080433.1	NP_001073902.1	Q96PX6	CC85A_HUMAN	LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)		4	1892	+			464						Missense_Mutation	SNP	ENST00000407595.2	37	c.1390C>T	CCDS46290.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.061149	0.76074	.	.	ENSG00000055813	ENST00000407595;ENST00000407862	.	.	.	5.84	4.96	0.65561	.	0.122489	0.31936	N	0.006837	T	0.27454	0.0674	N	0.08118	0	0.35662	D	0.812608	D	0.64830	0.994	P	0.47744	0.556	T	0.21008	-1.0258	9	0.38643	T	0.18	-14.8007	9.8696	0.41166	0.0:0.9095:0.0:0.0905	.	464	Q96PX6	CC85A_HUMAN	W	464;53	.	ENSP00000384040:R464W	R	+	1	2	CCDC85A	56453055	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.149000	0.42244	2.767000	0.95098	0.591000	0.81541	CGG		0.522	CCDC85A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324993.1			3	14	0	0	0	1	0	3	14					T	56599551	C	T	56599551	3	4	325	1	0	0	0	0	1	0	0	0	2859	643	23	2	1404	2	CCDC85A	2	56599551	Missense_Mutation	SNP	C	TCGA-KK-A7AY-01A-11D-A33T-08		56599551	186599822	6	16609											
SNRPG	6637	broad.mit.edu	37	chr2	70520767	70520767	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tactttttcaactcgggaggGtgagctttgctcatggtgta	7	15	12	7	1	2	1	2	1	0	0	3	2	2	2	0	3	4	3	0	3	3	5			TCGA-KK-A7AY-01A-11D-A33T-08	TCGA-KK-A7AY-11A-21D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80ac0a78-2ebc-488d-a0db-c2fda0b57966	258a8d92-ed5a-4028-a93f-28b61fa48dec	g.chr2:70520767G>C	ENST00000272348.2	-	1	136	c.15C>G	c.(13-15)caC>caG	p.H5Q	SNRPG_ENST00000454893.1_Missense_Mutation_p.H5Q|SNRPG_ENST00000449935.2_5'Flank|SNRPG_ENST00000413456.2_5'Flank|SNRPG_ENST00000482975.2_5'Flank|SNRPG_ENST00000429728.1_5'UTR|SNRPG_ENST00000438261.1_5'Flank	NM_003096.2	NP_003087.1	P62308	RUXG_HUMAN	small nuclear ribonucleoprotein polypeptide G	5					gene expression (GO:0010467)|histone mRNA metabolic process (GO:0008334)|mRNA 3'-end processing (GO:0031124)|mRNA splicing, via spliceosome (GO:0000398)|ncRNA metabolic process (GO:0034660)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|spliceosomal complex assembly (GO:0000245)|spliceosomal snRNP assembly (GO:0000387)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	catalytic step 2 spliceosome (GO:0071013)|cytosol (GO:0005829)|methylosome (GO:0034709)|nucleoplasm (GO:0005654)|small nuclear ribonucleoprotein complex (GO:0030532)|SMN-Sm protein complex (GO:0034719)|spliceosomal complex (GO:0005681)|U1 snRNP (GO:0005685)|U12-type spliceosomal complex (GO:0005689)|U4 snRNP (GO:0005687)|U7 snRNP (GO:0005683)	poly(A) RNA binding (GO:0044822)			endometrium(1)	1						ACTCGGGAGGGTGAGCTTTGC	0.562																																					NSCLC(57;761 1258 15082 39958 48415)	ENST00000272348.2																			0				endometrium(1)	1						c.(13-15)caC>caG		small nuclear ribonucleoprotein polypeptide G							189	158	168					2																	70520767		2203	4300	6503	SO:0001583	missense	6637				histone mRNA metabolic process|ncRNA metabolic process|spliceosomal snRNP assembly|spliceosome assembly|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytosol|nucleoplasm|U12-type spliceosomal complex|U7 snRNP	protein binding|RNA binding	g.chr2:70520767G>C	X85373	CCDS1903.1	2p13.3	2011-10-11			ENSG00000143977	ENSG00000143977			11163	protein-coding gene	gene with protein product		603542				7744013	Standard	NM_003096		Approved	Sm-G	uc002sgp.3	P62308	OTTHUMG00000129670	ENST00000272348.2:c.15C>G	2.37:g.70520767G>C	ENSP00000272348:p.His5Gln					SNRPG_ENST00000454893.1_Missense_Mutation_p.H5Q|SNRPG_ENST00000429728.1_5'UTR	p.H5Q	NM_003096.2	NP_003087.1	P62308	RUXG_HUMAN			1	136	-			5					D6W5G6|Q15357|Q6IB86	Missense_Mutation	SNP	ENST00000272348.2	37	c.15C>G	CCDS1903.1	.	.	.	.	.	.	.	.	.	.	G	9.776	1.174109	0.21704	.	.	ENSG00000143977	ENST00000272348;ENST00000454893	.	.	.	4.98	1.18	0.20946	.	0.000000	0.64402	U	0.000001	T	0.39118	0.1066	.	.	.	0.52099	D	0.999941	B	0.02656	0.0	B	0.06405	0.002	T	0.09773	-1.0659	8	0.20519	T	0.43	.	8.9896	0.36014	0.3091:0.0:0.6909:0.0	.	5	P62308	RUXG_HUMAN	Q	5	.	ENSP00000272348:H5Q	H	-	3	2	SNRPG	70374271	0.999000	0.42202	0.999000	0.59377	0.664000	0.39144	0.475000	0.22164	0.105000	0.17753	-0.142000	0.14014	CAC		0.562	SNRPG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251871.2			24	75	0	0	0	1	0	24	75					C	70520767	G	C	70520767	3	2	325	1	0	0	0	0	1	0	0	0	14869	1252	44	5	231	5	SNRPG	2	70520767	Missense_Mutation	SNP	G	TCGA-KK-A7AY-01A-11D-A33T-08	13921216	70520767	172678606	7	16610											
DDX18	8886	broad.mit.edu	37	chr2	118577297	118577297	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgagactactaaagaaacagAaaataatgtggagaagccag	20	5	10	6	1	0	4	0	0	0	4	0	6	0	4	1	1	3	0	1	1	8	3			TCGA-KK-A7AY-01A-11D-A33T-08	TCGA-KK-A7AY-11A-21D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80ac0a78-2ebc-488d-a0db-c2fda0b57966	258a8d92-ed5a-4028-a93f-28b61fa48dec	g.chr2:118577297A>C	ENST00000263239.2	+	3	571	c.443A>C	c.(442-444)gAa>gCa	p.E148A	DDX18_ENST00000474694.1_3'UTR	NM_006773.3	NP_006764.3	Q9NVP1	DDX18_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 18	148					ATP catabolic process (GO:0006200)	membrane (GO:0016020)|nucleolus (GO:0005730)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(2)|kidney(4)|large_intestine(3)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						AAAGAAACAGAAAATAATGTG	0.398											OREG0003814	type=REGULATORY REGION|Gene=DDX18|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																										ENST00000263239.2																			0				breast(2)|endometrium(2)|kidney(4)|large_intestine(3)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						c.(442-444)gAa>gCa		DEAD (Asp-Glu-Ala-Asp) box polypeptide 18							74	74	74					2																	118577297		2203	4300	6503	SO:0001583	missense	8886						ATP binding|ATP-dependent RNA helicase activity|RNA binding	g.chr2:118577297A>C	X98743	CCDS2120.1	2q21.2	2008-02-05	2003-06-13		ENSG00000088205	ENSG00000088205		"DEAD-boxes"	2741	protein-coding gene	gene with protein product		606355	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 18 (Myc-regulated)"			8861962	Standard	NM_006773		Approved	MrDb	uc002tlh.1	Q9NVP1	OTTHUMG00000058521	ENST00000263239.2:c.443A>C	2.37:g.118577297A>C	ENSP00000263239:p.Glu148Ala		OREG0003814	type=REGULATORY REGION|Gene=DDX18|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	1489	DDX18_ENST00000474694.1_3'UTR	p.E148A	NM_006773.3	NP_006764.3	Q9NVP1	DDX18_HUMAN			3	571	+			148					Q6GTZ9|Q6IAU4|Q92732|Q9BQB7	Missense_Mutation	SNP	ENST00000263239.2	37	c.443A>C	CCDS2120.1	.	.	.	.	.	.	.	.	.	.	A	8.986	0.976607	0.18736	.	.	ENSG00000088205	ENST00000263239	T	0.21543	2.0	4.06	0.025	0.14143	.	1.041390	0.07513	N	0.909231	T	0.17280	0.0415	L	0.51422	1.61	0.21256	N	0.999748	B	0.25563	0.129	B	0.21151	0.033	T	0.31503	-0.9941	10	0.37606	T	0.19	-3.5062	4.1728	0.10337	0.4554:0.3509:0.1937:0.0	.	148	Q9NVP1	DDX18_HUMAN	A	148	ENSP00000263239:E148A	ENSP00000263239:E148A	E	+	2	0	DDX18	118293767	0.555000	0.26530	0.004000	0.12327	0.006000	0.05464	1.190000	0.32126	-0.070000	0.12908	-0.263000	0.10527	GAA		0.398	DDX18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129632.3	NM_006773		21	18	0	0	0	1	0	21	18					C	118577297	A	C	118577297	3	2	325	1	0	0	0	0	1	0	0	0	4345	246	9	5	453	5	DDX18	2	118577297	Missense_Mutation	SNP	A	TCGA-KK-A7AY-01A-11D-A33T-08	48056530	118577297	124622076	8	16611											
NEB	4703	broad.mit.edu	37	chr2	152420177	152420177	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acaccagggaattcaccgatCacttttccagccaggtagtg	11	9	9	12	1	2	0	2	0	0	0	3	2	3	1	4	2	1	1	4	2	2	4			TCGA-KK-A7AY-01A-11D-A33T-08	TCGA-KK-A7AY-11A-21D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80ac0a78-2ebc-488d-a0db-c2fda0b57966	258a8d92-ed5a-4028-a93f-28b61fa48dec	g.chr2:152420177C>G	ENST00000172853.10	-	91	13680	c.13533G>C	c.(13531-13533)gtG>gtC	p.V4511V	NEB_ENST00000409198.1_Silent_p.V4511V|NEB_ENST00000397345.3_Silent_p.V6212V|NEB_ENST00000604864.1_Silent_p.V6212V|NEB_ENST00000427231.2_Silent_p.V6212V|NEB_ENST00000603639.1_Silent_p.V6212V			P20929	NEBU_HUMAN	nebulin	4511					muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		ATTCACCGATCACTTTTCCAG	0.433																																						ENST00000397345.3																			0				NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301						c.(18634-18636)gtG>gtC		nebulin							336	314	321					2																	152420177		1917	4134	6051	SO:0001819	synonymous_variant	4703				muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle	g.chr2:152420177C>G	X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"nemaline myopathy type 2"	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.13533G>C	2.37:g.152420177C>G						NEB_ENST00000603639.1_Silent_p.V6212V|NEB_ENST00000409198.1_Silent_p.V4511V|NEB_ENST00000427231.2_Silent_p.V6212V|NEB_ENST00000604864.1_Silent_p.V6212V|NEB_ENST00000172853.10_Silent_p.V4511V	p.V6212V	NM_001164508.1	NP_001157980.1	P20929	NEBU_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.219)	119	18838	-			6194					F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Silent	SNP	ENST00000172853.10	37	c.18636G>C																																																																																					0.433	NEB-201	KNOWN	basic	protein_coding	protein_coding		NM_004543		17	224	0	0	0	1	0	17	224					G	152420177	C	G	152420177	2	3	325	1	0	0	0	0	0	0	0	1	10302	813	29	5		5	NEB	2	152420177	Silent	SNP	C	TCGA-KK-A7AY-01A-11D-A33T-08	33842880	152420177	90779196	9	16612											
IQCA1	79781	broad.mit.edu	37	chr2	237405943	237405943	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctgatcagtattcgtttctGggggtggacgaactggtcgt	6	13	14	8	3	2	1	1	1	1	0	4	3	2	2	1	4	1	2	1	4	2	3			TCGA-KK-A7AY-01A-11D-A33T-08	TCGA-KK-A7AY-11A-21D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80ac0a78-2ebc-488d-a0db-c2fda0b57966	258a8d92-ed5a-4028-a93f-28b61fa48dec	g.chr2:237405943G>A	ENST00000409907.3	-	2	473	c.199C>T	c.(199-201)Cag>Tag	p.Q67*	IQCA1_ENST00000431676.2_Nonsense_Mutation_p.Q67*|IQCA1_ENST00000309507.5_Nonsense_Mutation_p.Q63*	NM_024726.4	NP_079002.3	Q86XH1	IQCA1_HUMAN	IQ motif containing with AAA domain 1	67							ATP binding (GO:0005524)			cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(1)	26						ATTCGTTTCTGGGGGTGGACG	0.473																																						ENST00000409907.3																			0				cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(1)	26						c.(199-201)Cag>Tag		IQ motif containing with AAA domain 1							69	69	69					2																	237405943		1921	4125	6046	SO:0001587	stop_gained	79781						ATP binding	g.chr2:237405943G>A	AK026180	CCDS46549.1, CCDS59441.1, CCDS74677.1	2q37.3	2014-07-18	2008-07-02	2008-07-02	ENSG00000132321	ENSG00000132321		"ATPases / AAA-type"	26195	protein-coding gene	gene with protein product	"dynein regulatory complex subunit 11"		"IQ motif containing with AAA domain"	IQCA		23427265	Standard	NM_024726		Approved	FLJ22527, DRC11	uc002vwb.3	Q86XH1	OTTHUMG00000153058	ENST00000409907.3:c.199C>T	2.37:g.237405943G>A	ENSP00000387347:p.Gln67*					IQCA1_ENST00000431676.2_Nonsense_Mutation_p.Q67*|IQCA1_ENST00000309507.5_Nonsense_Mutation_p.Q63*	p.Q67*			Q86XH1	IQCA1_HUMAN			2	473	-			67					B4DFH9|E7EWQ0|Q4G164|Q53R37|Q53RV3|Q96NS7|Q9H680	Nonsense_Mutation	SNP	ENST00000409907.3	37	c.199C>T	CCDS46549.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	39|39	7.828475|7.828475	0.98513|0.98513	.|.	.|.	ENSG00000132321|ENSG00000132321	ENST00000418802|ENST00000409907;ENST00000457693;ENST00000309507;ENST00000431676;ENST00000412437	T|.	0.37411|.	1.2|.	5.52|5.52	5.52|5.52	0.82312|0.82312	.|.	.|0.000000	.|0.64402	.|D	.|0.000019	T|.	0.81791|.	0.4897|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	D|.	0.83768|.	0.0218|.	5|.	0.72032|0.87932	D|D	0.01|0	.|.	19.4741|19.4741	0.94979|0.94979	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	L|X	85|67;74;63;67;63	ENSP00000390964:P85L|.	ENSP00000390964:P85L|ENSP00000254653:Q67X	P|Q	-|-	2|1	0|0	IQCA1|IQCA1	237070682|237070682	1.000000|1.000000	0.71417|0.71417	0.968000|0.968000	0.41197|0.41197	0.649000|0.649000	0.38597|0.38597	9.583000|9.583000	0.98217|0.98217	2.595000|2.595000	0.87683|0.87683	0.655000|0.655000	0.94253|0.94253	CCA|CAG		0.473	IQCA1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000329266.1	NM_024726		9	21	0	0	0	1	0	9	21					A	237405943	G	A	237405943	4	1	325	1	0	0	0	0	0	1	0	0	7802	1357	47	3	2341	3	IQCA1	2	237405943	Nonsense_Mutation	SNP	G	TCGA-KK-A7AY-01A-11D-A33T-08	84985766	237405943	5793430	10	16613											
RAMP1	10267	broad.mit.edu	37	chr2	238786003	238786003	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgactggggcaggaccatcAggtgagtcccatggcccctg	7	7	15	12	0	1	2	1	2	0	0	2	3	2	3	4	5	0	1	4	5	0	0			TCGA-KK-A7AY-01A-11D-A33T-08	TCGA-KK-A7AY-11A-21D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80ac0a78-2ebc-488d-a0db-c2fda0b57966	258a8d92-ed5a-4028-a93f-28b61fa48dec	g.chr2:238786003A>G	ENST00000254661.4	+	2	322	c.190A>G	c.(190-192)Agg>Ggg	p.R64G	RAMP1_ENST00000409726.1_Splice_Site_p.R42G|RAMP1_ENST00000403885.1_Splice_Site_p.R42G|RAMP1_ENST00000404910.2_Splice_Site_p.R42G	NM_005855.2	NP_005846.1	O60894	RAMP1_HUMAN	receptor (G protein-coupled) activity modifying protein 1	64					angiogenesis (GO:0001525)|calcium ion transport (GO:0006816)|intracellular protein transport (GO:0006886)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of protein glycosylation (GO:0060050)|protein localization to plasma membrane (GO:0072659)|protein transport (GO:0015031)|receptor internalization (GO:0031623)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	cell surface (GO:0009986)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcitonin receptor activity (GO:0004948)|calcitonin receptor binding (GO:0031716)|coreceptor activity (GO:0015026)|protein transporter activity (GO:0008565)|receptor activity (GO:0004872)			kidney(1)|large_intestine(1)|lung(2)	4		Breast(86;0.000596)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;9.56e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.49e-11)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;8.49e-08)|BRCA - Breast invasive adenocarcinoma(100;0.00013)|Lung(119;0.0119)|LUSC - Lung squamous cell carcinoma(224;0.0288)	Pramlintide(DB01278)	CAGGACCATCAGGTGAGTCCC	0.647																																					NSCLC(177;211 2889 43936 50767)	ENST00000254661.4																			0				kidney(1)|large_intestine(1)|lung(2)	4						c.e2+1		receptor (G protein-coupled) activity modifying protein 1	Pramlintide(DB01278)						66	63	64					2																	238786003		2203	4300	6503	SO:0001630	splice_region_variant	10267				intracellular protein transport|regulation of G-protein coupled receptor protein signaling pathway	integral to plasma membrane	protein transporter activity	g.chr2:238786003A>G	AJ001014	CCDS2522.1	2q36-q37.1	2008-02-05	2006-11-21		ENSG00000132329	ENSG00000132329		"Receptor (G protein-coupled) activity modifying proteins"	9843	protein-coding gene	gene with protein product		605153	"receptor activity modifying protein 1", "receptor (calcitonin) activity modifying protein 1"				Standard	NM_005855		Approved		uc002vxj.3	O60894	OTTHUMG00000133337	ENST00000254661.4:c.191+1A>G	2.37:g.238786003A>G						RAMP1_ENST00000409726.1_Splice_Site_p.R42_splice|RAMP1_ENST00000403885.1_Splice_Site_p.R42_splice|RAMP1_ENST00000404910.2_Splice_Site_p.R42_splice	p.R64_splice	NM_005855.2	NP_005846.1	O60894	RAMP1_HUMAN		Epithelial(121;9.56e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.49e-11)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;8.49e-08)|BRCA - Breast invasive adenocarcinoma(100;0.00013)|Lung(119;0.0119)|LUSC - Lung squamous cell carcinoma(224;0.0288)	2	322	+		Breast(86;0.000596)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)	64					Q6FGS5	Splice_Site	SNP	ENST00000254661.4	37	c.191_splice	CCDS2522.1	.	.	.	.	.	.	.	.	.	.	A	0.752	-0.772589	0.02951	.	.	ENSG00000132329	ENST00000404910;ENST00000254661;ENST00000409726;ENST00000403885	T;T;T;T	0.44881	0.91;0.91;0.91;0.91	4.75	-8.01	0.01122	.	0.690462	0.14661	N	0.305992	T	0.14527	0.0351	N	0.04959	-0.14	0.09310	N	1	B	0.09022	0.002	B	0.09377	0.004	T	0.13575	-1.0504	10	0.25106	T	0.35	-7.4403	7.6051	0.28097	0.3973:0.4377:0.1649:0.0	.	64	O60894	RAMP1_HUMAN	G	42;64;42;42	ENSP00000384688:R42G;ENSP00000254661:R64G;ENSP00000386720:R42G;ENSP00000386046:R42G	ENSP00000254661:R64G	R	+	1	2	RAMP1	238450742	0.000000	0.05858	0.005000	0.12908	0.062000	0.15995	-1.881000	0.01626	-1.519000	0.01775	-2.607000	0.00160	AGG		0.647	RAMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257166.2	NM_005855	Missense_Mutation	28	31	0	0	0	1	0	28	31					G	238786003	A	G	238786003	5	3	325	1	0	0	0	0	0	0	1	0	13021	202	7	4	196	4	RAMP1	2	238786003	Splice_Site	SNP	A	TCGA-KK-A7AY-01A-11D-A33T-08	1380060	238786003	4413370	11	16614											
PTH1R	5745	broad.mit.edu	37	chr3	46944116	46944116	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggtctcagggacgctctggCaagtccagatgcactatgag	10	8	13	10	1	2	2	1	1	2	1	4	3	3	3	1	3	1	3	1	3	2	1			TCGA-KK-A7AY-01A-11D-A33T-08	TCGA-KK-A7AY-11A-21D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80ac0a78-2ebc-488d-a0db-c2fda0b57966	258a8d92-ed5a-4028-a93f-28b61fa48dec	g.chr3:46944116C>T	ENST00000313049.5	+	12	1515	c.1312C>T	c.(1312-1314)Caa>Taa	p.Q438*	PTH1R_ENST00000430002.2_Nonsense_Mutation_p.Q438*|PTH1R_ENST00000449590.1_Nonsense_Mutation_p.Q438*|PTH1R_ENST00000418619.1_Nonsense_Mutation_p.Q438*			Q03431	PTH1R_HUMAN	parathyroid hormone 1 receptor	438					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|aging (GO:0007568)|bone mineralization (GO:0030282)|bone resorption (GO:0045453)|cell maturation (GO:0048469)|chondrocyte differentiation (GO:0002062)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|negative regulation of cell proliferation (GO:0008285)|osteoblast development (GO:0002076)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of inositol phosphate biosynthetic process (GO:0060732)|skeletal system development (GO:0001501)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	parathyroid hormone receptor activity (GO:0004991)|peptide hormone binding (GO:0017046)|protein self-association (GO:0043621)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(5)|skin(2)|stomach(1)|urinary_tract(2)	19					Preotact(DB05829)|Teriparatide(DB06285)	GACGCTCTGGCAAGTCCAGAT	0.607																																						ENST00000449590.1																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(5)|skin(2)|stomach(1)|urinary_tract(2)	19						c.(1312-1314)Caa>Taa		parathyroid hormone 1 receptor							95	76	82					3																	46944116		2203	4300	6503	SO:0001587	stop_gained	5745					cytoplasm|integral to plasma membrane|nucleus	parathyroid hormone receptor activity|peptide hormone binding|protein self-association	g.chr3:46944116C>T		CCDS2747.1	3p22-p21.1	2012-08-10	2008-11-18	2008-11-18	ENSG00000160801	ENSG00000160801		"GPCR / Class B : Parathyroid hormone receptors"	9608	protein-coding gene	gene with protein product		168468	"parathyroid hormone receptor 1"	PTHR, PTHR1		8020952	Standard	NM_001184744		Approved		uc021wxg.1	Q03431	OTTHUMG00000133515	ENST00000313049.5:c.1312C>T	3.37:g.46944116C>T	ENSP00000321999:p.Gln438*					PTH1R_ENST00000430002.2_Nonsense_Mutation_p.Q438*|PTH1R_ENST00000418619.1_Nonsense_Mutation_p.Q438*|PTH1R_ENST00000313049.5_Nonsense_Mutation_p.Q438*	p.Q438*	NM_000316.2	NP_000307.1	Q03431	PTH1R_HUMAN			14	1515	+			438					Q2M1U3	Nonsense_Mutation	SNP	ENST00000313049.5	37	c.1312C>T	CCDS2747.1	.	.	.	.	.	.	.	.	.	.	C	37	6.445539	0.97572	.	.	ENSG00000160801	ENST00000449590;ENST00000418619;ENST00000427125;ENST00000430002;ENST00000313049;ENST00000313063;ENST00000422115	.	.	.	4.92	4.92	0.64577	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	17.2871	0.87145	0.0:1.0:0.0:0.0	.	.	.	.	X	438;438;438;438;438;716;10	.	ENSP00000321999:Q438X	Q	+	1	0	PTH1R	46919120	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.591000	0.61019	2.553000	0.86117	0.655000	0.94253	CAA		0.607	PTH1R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257481.1	NM_000316		3	37	0	0	0	1	0	3	37					T	46944116	C	T	46944116	4	4	325	1	0	0	0	0	0	1	0	0	12758	711	25	3	1358	3	PTH1R	3	46944116	Nonsense_Mutation	SNP	C	TCGA-KK-A7AY-01A-11D-A33T-08		46944116	151078314	12	16615											
BBX	56987	broad.mit.edu	37	chr3	107497259	107497259	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atttgaaaaaaaattcaacaGcctccctcaatatagtcctg	16	11	4	10	0	2	1	2	1	0	0	4	1	4	1	3	0	2	0	3	0	8	4			TCGA-KK-A7AY-01A-11D-A33T-08	TCGA-KK-A7AY-11A-21D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80ac0a78-2ebc-488d-a0db-c2fda0b57966	258a8d92-ed5a-4028-a93f-28b61fa48dec	g.chr3:107497259G>A	ENST00000325805.8	+	13	2383	c.2096G>A	c.(2095-2097)aGc>aAc	p.S699N	BBX_ENST00000402543.1_Missense_Mutation_p.S699N|BBX_ENST00000473542.1_3'UTR|BBX_ENST00000406780.1_Missense_Mutation_p.S699N|BBX_ENST00000415149.2_Missense_Mutation_p.S699N|BBX_ENST00000416476.2_Missense_Mutation_p.A363T			Q8WY36	BBX_HUMAN	bobby sox homolog (Drosophila)	699	Lys-rich.				bone development (GO:0060348)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(18)|ovary(4)|pancreas(1)|skin(2)	49			OV - Ovarian serous cystadenocarcinoma(3;0.112)			AAATTCAACAGCCTCCCTCAA	0.408																																						ENST00000415149.2																			0				breast(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(18)|ovary(4)|pancreas(1)|skin(2)	49						c.(2095-2097)aGc>aAc		bobby sox homolog (Drosophila)							86	88	87					3																	107497259		2203	4300	6503	SO:0001583	missense	56987				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr3:107497259G>A	AF168718	CCDS2950.1, CCDS46881.1, CCDS63712.1	3q13.1	2008-07-18			ENSG00000114439	ENSG00000114439			14422	protein-coding gene	gene with protein product	"x 001 protein"					11680820	Standard	NM_001142568		Approved	MDS001, HSPC339, HBP2	uc010hpr.4	Q8WY36	OTTHUMG00000150360	ENST00000325805.8:c.2096G>A	3.37:g.107497259G>A	ENSP00000319974:p.Ser699Asn					BBX_ENST00000325805.8_Missense_Mutation_p.S699N|BBX_ENST00000473542.1_3'UTR|BBX_ENST00000402543.1_Missense_Mutation_p.S699N|BBX_ENST00000406780.1_Missense_Mutation_p.S699N|BBX_ENST00000416476.2_Missense_Mutation_p.A363T	p.S699N	NM_001142568.1|NM_020235.5	NP_001136040.1|NP_064620.2	Q8WY36	BBX_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;0.112)		13	2423	+			699			Lys-rich.		A2RRM7|Q2TAJ1|Q7L3J8|Q7LBY8|Q8NDB0|Q8WY35|Q9H0J6	Missense_Mutation	SNP	ENST00000325805.8	37	c.2096G>A	CCDS46881.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.9|20.9	4.065760|4.065760	0.76187|0.76187	.|.	.|.	ENSG00000114439|ENSG00000114439	ENST00000416476|ENST00000415149;ENST00000402543;ENST00000325805;ENST00000406780	D|T;T;T;T	0.99005|0.37235	-5.32|1.21;1.21;1.21;1.21	5.92|5.92	5.05|5.05	0.67936|0.67936	.|.	.|0.037581	.|0.85682	.|N	.|0.000000	T|T	0.49745|0.49745	0.1575|0.1575	L|L	0.34521|0.34521	1.04|1.04	0.47778|0.47778	D|D	0.999512|0.999512	B;B|D;D	0.32203|0.89917	0.36;0.18|1.0;0.992	B;B|D;D	0.38655|0.87578	0.278;0.03|0.998;0.961	T|T	0.53373|0.53373	-0.8448|-0.8448	9|10	0.87932|0.87932	D|D	0|0	-4.6297|-4.6297	14.8457|14.8457	0.70259|0.70259	0.0686:0.0:0.9313:0.0|0.0686:0.0:0.9313:0.0	.|.	10;363|699;699	Q9NRU5;A2RRM7|Q8WY36;Q8WY36-2	.;.|BBX_HUMAN;.	T|N	363|699	ENSP00000403860:A363T|ENSP00000408358:S699N;ENSP00000385317:S699N;ENSP00000319974:S699N;ENSP00000385530:S699N	ENSP00000403860:A363T|ENSP00000319974:S699N	A|S	+|+	1|2	0|0	BBX|BBX	108979949|108979949	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.958000|0.958000	0.62258|0.62258	7.654000|7.654000	0.83653|0.83653	1.493000|1.493000	0.48517|0.48517	0.650000|0.650000	0.86243|0.86243	GCC|AGC		0.408	BBX-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317820.1	NM_020235		33	56	0	0	0	1	0	33	56					A	107497259	G	A	107497259	3	1	325	1	0	0	0	0	1	0	0	0	1343	971	34	3	2134	3	BBX	3	107497259	Missense_Mutation	SNP	G	TCGA-KK-A7AY-01A-11D-A33T-08	60553143	107497259	90525171	13	16616											
CCDC37	348807	broad.mit.edu	37	chr3	126135240	126135240	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cggctaagcacaccagcctgCggcggcagctgcagctggag	8	4	15	14	3	0	0	0	0	0	0	0	1	0	1	2	4	6	6	2	4	1	1			TCGA-KK-A7AY-01A-11D-A33T-08	TCGA-KK-A7AY-11A-21D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80ac0a78-2ebc-488d-a0db-c2fda0b57966	258a8d92-ed5a-4028-a93f-28b61fa48dec	g.chr3:126135240C>T	ENST00000352312.1	+	5	406	c.307C>T	c.(307-309)Cgg>Tgg	p.R103W	CCDC37_ENST00000505024.1_Missense_Mutation_p.R103W|CCDC37_ENST00000393425.1_Missense_Mutation_p.R103W	NM_182628.2	NP_872434.2	Q494V2	CCD37_HUMAN	coiled-coil domain containing 37	103										NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|skin(3)	23				GBM - Glioblastoma multiforme(114;0.166)		CACCAGCCTGCGGCGGCAGCT	0.662																																						ENST00000393425.1																			0				NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|skin(3)	23						c.(307-309)Cgg>Tgg		coiled-coil domain containing 37							28	27	27					3																	126135240		2184	4264	6448	SO:0001583	missense	348807							g.chr3:126135240C>T	AK097402	CCDS3037.1	3q21.2	2014-07-31			ENSG00000163885	ENSG00000163885			26842	protein-coding gene	gene with protein product						23569216	Standard	NM_182628		Approved	FLJ40083, MIA1	uc003eiu.1	Q494V2	OTTHUMG00000162691	ENST00000352312.1:c.307C>T	3.37:g.126135240C>T	ENSP00000344749:p.Arg103Trp					CCDC37_ENST00000352312.1_Missense_Mutation_p.R103W|CCDC37_ENST00000505024.1_Missense_Mutation_p.R103W	p.R103W			Q494V2	CCD37_HUMAN		GBM - Glioblastoma multiforme(114;0.166)	5	406	+			103					D3DNA8|Q494V1|Q494V4|Q8N838	Missense_Mutation	SNP	ENST00000352312.1	37	c.307C>T	CCDS3037.1	.	.	.	.	.	.	.	.	.	.	C	14.17	2.455451	0.43634	.	.	ENSG00000163885	ENST00000352312;ENST00000393425;ENST00000505024	T;T;T	0.36520	1.25;1.33;1.33	4.59	4.59	0.56863	.	0.214881	0.34314	N	0.004072	T	0.54367	0.1854	M	0.65498	2.005	0.20074	N	0.999935	D;D	0.89917	1.0;0.999	D;P	0.63703	0.917;0.828	T	0.50056	-0.8872	10	0.87932	D	0	-19.2008	12.8856	0.58042	0.0:1.0:0.0:0.0	.	103;103	Q494V2-2;Q494V2	.;CCD37_HUMAN	W	103	ENSP00000344749:R103W;ENSP00000377076:R103W;ENSP00000423046:R103W	ENSP00000344749:R103W	R	+	1	2	CCDC37	127617930	0.528000	0.26314	0.876000	0.34364	0.009000	0.06853	1.603000	0.36794	2.102000	0.63906	0.491000	0.48974	CGG		0.662	CCDC37-001	KNOWN	basic|appris_candidate|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000370099.4	NM_182628		3	39	0	0	0	1	0	3	39					T	126135240	C	T	126135240	3	4	325	1	0	0	0	0	1	0	0	0	2809	759	27	1	321	1	CCDC37	3	126135240	Missense_Mutation	SNP	C	TCGA-KK-A7AY-01A-11D-A33T-08	18637981	126135240	71887190	14	16617											
HLTF	6596	broad.mit.edu	37	chr3	148793758	148793758	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	caacttgatttccattcacaTtgtttactttaattgcattc	10	19	3	9	0	1	1	1	1	0	0	3	1	2	1	1	0	3	2	1	0	3	10			TCGA-KK-A7AY-01A-11D-A33T-08	TCGA-KK-A7AY-11A-21D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80ac0a78-2ebc-488d-a0db-c2fda0b57966	258a8d92-ed5a-4028-a93f-28b61fa48dec	g.chr3:148793758T>C	ENST00000310053.5	-	3	498	c.305A>G	c.(304-306)aAt>aGt	p.N102S	HLTF_ENST00000392912.2_Missense_Mutation_p.N102S|HLTF_ENST00000494055.1_Missense_Mutation_p.N102S|HLTF_ENST00000465259.1_Missense_Mutation_p.N102S	NM_003071.3|NM_139048.2	NP_003062.2|NP_620636.1	Q14527	HLTF_HUMAN	helicase-like transcription factor	102					chromatin modification (GO:0016568)|protein ubiquitination (GO:0016567)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	47			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)			TCCATTCACATTGTTTACTTT	0.318																																						ENST00000310053.5																			0				breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	47						c.(304-306)aAt>aGt		helicase-like transcription factor							113	103	106					3																	148793758		2203	4300	6503	SO:0001583	missense	6596				chromatin modification|transcription, DNA-dependent	nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding	g.chr3:148793758T>C	L34673	CCDS33875.1	3q25.1-q26.1	2006-11-09	2006-11-09	2006-11-09	ENSG00000071794	ENSG00000071794		"RING-type (C3HC4) zinc fingers"	11099	protein-coding gene	gene with protein product		603257	"SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 3"	SNF2L3, SMARCA3		7558014	Standard	NM_139048		Approved	HIP116A, HLTF1, RNF80	uc003ewr.1	Q14527	OTTHUMG00000159534	ENST00000310053.5:c.305A>G	3.37:g.148793758T>C	ENSP00000308944:p.Asn102Ser					HLTF_ENST00000392912.2_Missense_Mutation_p.N102S|HLTF_ENST00000494055.1_Missense_Mutation_p.N102S|HLTF_ENST00000465259.1_Missense_Mutation_p.N102S	p.N102S	NM_003071.3|NM_139048.2	NP_003062.2|NP_620636.1	Q14527	HLTF_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)		3	498	-			102					D3DNH3|Q14536|Q16051|Q7KYJ6|Q86YA5|Q92652|Q96KM9	Missense_Mutation	SNP	ENST00000310053.5	37	c.305A>G	CCDS33875.1	.	.	.	.	.	.	.	.	.	.	T	24.2	4.507113	0.85282	.	.	ENSG00000071794	ENST00000465259;ENST00000310053;ENST00000392912;ENST00000494055;ENST00000416117;ENST00000392913	D;D;D;D	0.94046	-3.34;-3.34;-3.34;-3.34	5.54	5.54	0.83059	HIP116, Rad5p N-terminal (2);	.	.	.	.	D	0.96315	0.8798	M	0.74258	2.255	0.80722	D	1	D;D;D	0.89917	0.998;1.0;1.0	D;D;D	0.91635	0.989;0.999;0.999	D	0.96708	0.9523	9	0.72032	D	0.01	2.3701	14.9583	0.71135	0.0:0.0:0.0:1.0	.	102;102;102	Q59GQ7;A8K5B6;Q14527	.;.;HLTF_HUMAN	S	102;102;102;102;99;99	ENSP00000420745:N102S;ENSP00000308944:N102S;ENSP00000376644:N102S;ENSP00000420429:N102S	ENSP00000308944:N102S	N	-	2	0	HLTF	150276448	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.288000	0.78691	2.243000	0.73865	0.482000	0.46254	AAT		0.318	HLTF-003	KNOWN	alternative_3_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356064.1			4	49	0	0	0	1	0	4	49					C	148793758	T	C	148793758	3	2	325	1	0	0	0	0	1	0	0	0	7215	1493	52	4	2816	4	HLTF	3	148793758	Missense_Mutation	SNP	T	TCGA-KK-A7AY-01A-11D-A33T-08	22658518	148793758	49228672	15	16618											
CORIN	10699	broad.mit.edu	37	chr4	47788901	47788901	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ttcaccatcagtgaccaaagGttcactcccatttgatttaa	12	13	5	11	0	3	2	3	2	0	0	4	2	4	2	3	1	0	1	3	1	2	5			TCGA-KK-A7AY-01A-11D-A33T-08	TCGA-KK-A7AY-11A-21D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80ac0a78-2ebc-488d-a0db-c2fda0b57966	258a8d92-ed5a-4028-a93f-28b61fa48dec	g.chr4:47788901G>A	ENST00000273857.4	-	3	249	c.250C>T	c.(250-252)Cct>Tct	p.P84S	CORIN_ENST00000505909.1_Missense_Mutation_p.P84S|CORIN_ENST00000502252.1_Intron|CORIN_ENST00000504584.1_Missense_Mutation_p.P84S|CORIN_ENST00000508498.1_5'UTR	NM_006587.2	NP_006578.2	Q9Y5Q5	CORIN_HUMAN	corin, serine peptidase	84					female pregnancy (GO:0007565)|peptide hormone processing (GO:0016486)|proteolysis (GO:0006508)|regulation of blood pressure (GO:0008217)|regulation of renal sodium excretion (GO:0035813)|regulation of systemic arterial blood pressure by atrial natriuretic peptide (GO:0003050)	cell surface (GO:0009986)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)|serine-type exopeptidase activity (GO:0070008)			NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(18)|lung(39)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	79						GTGACCAAAGGTTCACTCCCA	0.358																																						ENST00000273857.4																			0				NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(18)|lung(39)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	79						c.(250-252)Cct>Tct		corin, serine peptidase							73	68	70					4																	47788901		2203	4300	6503	SO:0001583	missense	10699				peptide hormone processing|regulation of systemic arterial blood pressure by atrial natriuretic peptide	integral to membrane|plasma membrane	scavenger receptor activity|serine-type endopeptidase activity|serine-type exopeptidase activity	g.chr4:47788901G>A	AF133845	CCDS3477.1, CCDS63958.1, CCDS75122.1	4p13-p12	2011-08-31	2005-08-17		ENSG00000145244	ENSG00000145244		"Serine peptidases / Transmembrane"	19012	protein-coding gene	gene with protein product		605236	"corin, serine protease"			10329693	Standard	NM_006587		Approved	PRSC, CRN, ATC2, Lrp4, TMPRSS10	uc003gxm.3	Q9Y5Q5	OTTHUMG00000099441	ENST00000273857.4:c.250C>T	4.37:g.47788901G>A	ENSP00000273857:p.Pro84Ser					CORIN_ENST00000505909.1_Missense_Mutation_p.P84S|CORIN_ENST00000504584.1_Missense_Mutation_p.P84S|CORIN_ENST00000508498.1_5'UTR|CORIN_ENST00000502252.1_Intron	p.P84S	NM_006587.2	NP_006578.2	Q9Y5Q5	CORIN_HUMAN			3	249	-			84					B0ZBE3|Q2TBD2|Q4W5E5|Q4W5G6|Q9UHY2	Missense_Mutation	SNP	ENST00000273857.4	37	c.250C>T	CCDS3477.1	.	.	.	.	.	.	.	.	.	.	G	12.11	1.838388	0.32513	.	.	ENSG00000145244	ENST00000273857;ENST00000505909;ENST00000504584	D;D;D	0.92299	-2.52;-2.41;-3.01	4.78	3.93	0.45458	.	0.537818	0.18389	N	0.142737	D	0.88559	0.6469	L	0.32530	0.975	0.28097	N	0.931574	B;D;P	0.54601	0.031;0.967;0.454	B;P;B	0.49799	0.006;0.622;0.058	T	0.81607	-0.0856	10	0.37606	T	0.19	.	8.2817	0.31904	0.1043:0.0:0.8957:0.0	.	84;84;84	B7Z4R1;B4E2W9;Q9Y5Q5	.;.;CORIN_HUMAN	S	84	ENSP00000273857:P84S;ENSP00000425401:P84S;ENSP00000423216:P84S	ENSP00000273857:P84S	P	-	1	0	CORIN	47483658	0.998000	0.40836	1.000000	0.80357	0.503000	0.33858	1.931000	0.40134	2.677000	0.91161	0.558000	0.71614	CCT		0.358	CORIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216906.2			15	18	0	0	0	1	0	15	18					A	47788901	G	A	47788901	3	1	325	1	0	0	0	0	1	0	0	0	3752	1261	44	3	2958	3	CORIN	4	47788901	Missense_Mutation	SNP	G	TCGA-KK-A7AY-01A-11D-A33T-08		47788901	143365375	16	16619											
HCN1	348980	broad.mit.edu	37	chr5	45303942	45303942	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagttgaagttgactatctcCtaaagatgtcaagagtaaac	15	11	8	7	0	2	4	1	2	1	2	3	4	2	4	1	0	1	3	1	0	7	5			TCGA-KK-A7AY-01A-11D-A33T-08	TCGA-KK-A7AY-11A-21D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80ac0a78-2ebc-488d-a0db-c2fda0b57966	258a8d92-ed5a-4028-a93f-28b61fa48dec	g.chr5:45303942C>T	ENST00000303230.4	-	6	1435		c.e6-1			NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1						apical protein localization (GO:0045176)|cellular response to cAMP (GO:0071320)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|retinal cone cell development (GO:0046549)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|intracellular cAMP activated cation channel activity (GO:0005222)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated sodium channel activity (GO:0005248)			NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						TGACTATCTCCTAAAGATGTC	0.333																																						ENST00000303230.4																			0				NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						c.e6-1		hyperpolarization activated cyclic nucleotide-gated potassium channel 1							82	86	85					5																	45303942		2203	4300	6503	SO:0001630	splice_region_variant	348980					integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity	g.chr5:45303942C>T	AF064876	CCDS3952.1	5p12	2011-07-05			ENSG00000164588	ENSG00000164588		"Voltage-gated ion channels / Cyclic nucleotide-regulated channels"	4845	protein-coding gene	gene with protein product		602780		BCNG1		9405696, 9630217, 16382102	Standard	NM_021072		Approved	BCNG-1, HAC-2	uc003jok.3	O60741	OTTHUMG00000131155	ENST00000303230.4:c.1378-1G>A	5.37:g.45303942C>T								NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN			6	1435	-									Splice_Site	SNP	ENST00000303230.4	37		CCDS3952.1	.	.	.	.	.	.	.	.	.	.	C	25.4	4.632669	0.87660	.	.	ENSG00000164588	ENST00000303230	.	.	.	5.62	5.62	0.85841	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.024	0.97514	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	HCN1	45339699	1.000000	0.71417	1.000000	0.80357	0.934000	0.57294	7.718000	0.84743	2.809000	0.96659	0.655000	0.94253	.		0.333	HCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253847.1	NM_021072	Intron	28	43	0	0	0	1	0	28	43					T	45303942	C	T	45303942	5	4	325	1	0	0	0	0	0	0	1	0	6996	695	24	3	1307	3	HCN1	5	45303942	Splice_Site	SNP	C	TCGA-KK-A7AY-01A-11D-A33T-08		45303942	135611318	17	16620											
SLC4A9	83697	broad.mit.edu	37	chr5	139745496	139745496	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggccaccctcgtggccctggCtgtcatacagtcccagacat	7	8	10	16	1	1	1	1	0	0	1	3	1	2	1	4	3	1	1	4	3	1	1			TCGA-KK-A7AY-01A-11D-A33T-08	TCGA-KK-A7AY-11A-21D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80ac0a78-2ebc-488d-a0db-c2fda0b57966	258a8d92-ed5a-4028-a93f-28b61fa48dec	g.chr5:139745496C>T	ENST00000230993.6	+	13	1895	c.1860C>T	c.(1858-1860)ggC>ggT	p.G620G	SLC4A9_ENST00000507527.1_Silent_p.G620G|SLC4A9_ENST00000506757.2_Silent_p.G596G|SLC4A9_ENST00000506545.1_Intron|SLC4A9_ENST00000432095.2_Silent_p.G582G	NM_001258428.1	NP_001245357.1	Q96Q91	B3A4_HUMAN	solute carrier family 4, sodium bicarbonate cotransporter, member 9	620	Membrane (anion exchange).				bicarbonate transport (GO:0015701)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)			endometrium(4)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)	14			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTGGCCCTGGCTGTCATACAG	0.557																																						ENST00000230993.6																			0				endometrium(4)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)	14						c.(1858-1860)ggC>ggT		solute carrier family 4, sodium bicarbonate cotransporter, member 9							200	204	203					5																	139745496		2034	4184	6218	SO:0001819	synonymous_variant	83697					integral to membrane|plasma membrane	inorganic anion exchanger activity|sodium:bicarbonate symporter activity	g.chr5:139745496C>T	AF313465	CCDS47278.1, CCDS58973.1, CCDS58974.1, CCDS58975.1	5q31.3	2013-05-22			ENSG00000113073	ENSG00000113073		"Solute carriers"	11035	protein-coding gene	gene with protein product		610207				11305939	Standard	NM_031467		Approved	AE4	uc003lfk.2	Q96Q91	OTTHUMG00000163352	ENST00000230993.6:c.1860C>T	5.37:g.139745496C>T						SLC4A9_ENST00000507527.1_Silent_p.G620G|SLC4A9_ENST00000506757.2_Silent_p.G596G|SLC4A9_ENST00000506545.1_Intron|SLC4A9_ENST00000432095.2_Silent_p.G582G	p.G620G	NM_001258428.1	NP_001245357.1	Q96Q91	B3A4_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		13	1895	+			620			Membrane (anion exchange).		B7ZL63|D3DQD4|D3DQD5|D3DQD6|E9PDK1|Q96RM5|Q9BXF2|Q9BXN3	Silent	SNP	ENST00000230993.6	37	c.1860C>T	CCDS58973.1																																																																																				0.557	SLC4A9-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000372823.1	NM_031467		54	100	0	0	0	1	0	54	100					T	139745496	C	T	139745496	2	4	325	1	0	0	0	0	0	0	0	1	14660	784	28	3		3	SLC4A9	5	139745496	Silent	SNP	C	TCGA-KK-A7AY-01A-11D-A33T-08	94441554	139745496	41169764	18	16621											
PCDHA13	56136	broad.mit.edu	37	chr5	140262056	140262056	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	gcgcctgttccgggtggcgtCcaaaagacacggggaccttc	7	7	14	13	4	0	1	0	0	0	1	3	2	2	2	4	4	0	1	4	4	2	2			TCGA-KK-A7AY-01A-11D-A33T-08	TCGA-KK-A7AY-11A-21D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80ac0a78-2ebc-488d-a0db-c2fda0b57966	258a8d92-ed5a-4028-a93f-28b61fa48dec	g.chr5:140262056C>G	ENST00000289272.2	+	1	203	c.203C>G	c.(202-204)tCc>tGc	p.S68C	PCDHA8_ENST00000531613.1_Intron|PCDHA13_ENST00000409494.1_Missense_Mutation_p.S68C|PCDHA7_ENST00000525929.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA5_ENST00000529859.1_Intron	NM_018904.2|NM_031865.1	NP_061727.1|NP_114071.1	Q9Y5I0	PCDAD_HUMAN	protocadherin alpha 13	68	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|biliary_tract(2)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(18)|liver(3)|lung(23)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGGGTGGCGTCCAAAAGACAC	0.627																																					Melanoma(147;1739 1852 5500 27947 37288)	ENST00000289272.2																			0				NS(1)|biliary_tract(2)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(18)|liver(3)|lung(23)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	95						c.(202-204)tCc>tGc									50	60	57					5																	140262056		2200	4276	6476	SO:0001583	missense	0							g.chr5:140262056C>G	AF152478	CCDS4240.1	5q31	2010-11-26			ENSG00000239389	ENSG00000239389		"Cadherins / Protocadherins : Clustered"	8667	other	complex locus constituent	"KIAA0345-like 1", "ortholog of mouse CNR5"	606319		CNRS5		10380929, 10662547	Standard	NM_018904		Approved	CNR5, CRNR5, CNRN5, PCDH-ALPHA13		Q9Y5I0	OTTHUMG00000129614	ENST00000289272.2:c.203C>G	5.37:g.140262056C>G	ENSP00000289272:p.Ser68Cys					PCDHA3_ENST00000522353.2_Intron|PCDHA13_ENST00000409494.1_Missense_Mutation_p.S68C|PCDHA11_ENST00000398640.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000527624.1_Intron	p.S68C	NM_018904.2|NM_031865.1	NP_061727.1|NP_114071.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	203	+								O75277	Missense_Mutation	SNP	ENST00000289272.2	37	c.203C>G	CCDS4240.1	.	.	.	.	.	.	.	.	.	.	C	13.65	2.301271	0.40694	.	.	ENSG00000239389	ENST00000409494;ENST00000289272	T;T	0.44083	0.93;0.93	5.36	5.36	0.76844	Cadherin, N-terminal (1);Cadherin (3);Cadherin-like (1);	.	.	.	.	T	0.75148	0.3810	H	0.95884	3.735	0.33468	D	0.58584	P;D;D	0.55172	0.945;0.97;0.962	P;D;P	0.63381	0.575;0.914;0.536	D	0.86823	0.2006	9	0.66056	D	0.02	.	18.7411	0.91773	0.0:1.0:0.0:0.0	.	68;68;68	Q9Y5I0;C9JA99;Q9Y5I0-2	PCDAD_HUMAN;.;.	C	68	ENSP00000386821:S68C;ENSP00000289272:S68C	ENSP00000289272:S68C	S	+	2	0	PCDHA13	140242240	0.000000	0.05858	1.000000	0.80357	0.469000	0.32828	0.686000	0.25392	2.514000	0.84764	0.556000	0.70494	TCC		0.627	PCDHA13-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335000.1	NM_018904		5	168	0	0	0	1	0	5	168					G	140262056	C	G	140262056	3	3	325	1	0	0	0	0	1	0	0	0	11523	855	30	5	205	5	PCDHA13	5	140262056	Missense_Mutation	SNP	C	TCGA-KK-A7AY-01A-11D-A33T-08	516560	140262056	40653204	19	16622											
GRIA1	2890	broad.mit.edu	37	chr5	153190627	153190627	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aatccatcaacgaagccataCggacatcgaccctcccccgc	12	5	6	18	4	1	0	1	0	0	0	4	3	3	1	5	1	3	0	5	1	4	1			TCGA-KK-A7AY-01A-11D-A33T-08	TCGA-KK-A7AY-11A-21D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80ac0a78-2ebc-488d-a0db-c2fda0b57966	258a8d92-ed5a-4028-a93f-28b61fa48dec	g.chr5:153190627C>T	ENST00000285900.5	+	16	2906	c.2563C>T	c.(2563-2565)Cgg>Tgg	p.R855W	GRIA1_ENST00000521843.2_Missense_Mutation_p.R786W|GRIA1_ENST00000448073.4_Missense_Mutation_p.R865W|GRIA1_ENST00000340592.5_Missense_Mutation_p.R855W|GRIA1_ENST00000518142.1_Missense_Mutation_p.R775W|GRIA1_ENST00000518783.1_Missense_Mutation_p.R865W	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1	855					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|long-term memory (GO:0007616)|receptor internalization (GO:0031623)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|axonal spine (GO:0044308)|cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|dendrite membrane (GO:0032590)|dendritic spine (GO:0043197)|endocytic vesicle membrane (GO:0030666)|endoplasmic reticulum (GO:0005783)|neuron spine (GO:0044309)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|PDZ domain binding (GO:0030165)			NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Perampanel(DB08883)|Sevoflurane(DB01236)	CGAAGCCATACGGACATCGAC	0.592																																						ENST00000285900.5																			0				NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81						c.(2563-2565)Cgg>Tgg		glutamate receptor, ionotropic, AMPA 1	Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)						64	67	66					5																	153190627		2203	4300	6503	SO:0001583	missense	0				synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding	g.chr5:153190627C>T		CCDS4322.1, CCDS47318.1, CCDS58986.1, CCDS58987.1, CCDS58988.1, CCDS58989.1	5q33	2012-08-29			ENSG00000155511	ENSG00000155511		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4571	protein-coding gene	gene with protein product		138248		GLUR1		1652753, 1319477	Standard	NM_000827		Approved	GluA1, GLURA	uc011dcy.2	P42261	OTTHUMG00000130148	ENST00000285900.5:c.2563C>T	5.37:g.153190627C>T	ENSP00000285900:p.Arg855Trp					GRIA1_ENST00000518783.1_Missense_Mutation_p.R865W|GRIA1_ENST00000518142.1_Missense_Mutation_p.R775W|GRIA1_ENST00000521843.2_Missense_Mutation_p.R786W|GRIA1_ENST00000448073.4_Missense_Mutation_p.R865W|GRIA1_ENST00000340592.5_Missense_Mutation_p.R855W	p.R855W	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		16	2906	+		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	855					B7Z2S0|B7Z2W8|B7Z3F6|B7Z9G9|D3DQI4|E7ESV8|Q2NKM6	Missense_Mutation	SNP	ENST00000285900.5	37	c.2563C>T	CCDS4322.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.033868	0.75504	.	.	ENSG00000155511	ENST00000285900;ENST00000544403;ENST00000518142;ENST00000340592;ENST00000521843;ENST00000544794;ENST00000518783;ENST00000448073	T;T;T;T;T;T;T	0.14640	2.56;2.49;2.56;2.49;2.5;2.56;2.56	5.16	3.33	0.38152	.	0.057658	0.64402	D	0.000001	T	0.28995	0.0720	L	0.50333	1.59	0.53005	D	0.999968	D;D;D;D;D	0.89917	0.999;0.999;1.0;0.999;1.0	P;P;D;P;D	0.67725	0.642;0.642;0.915;0.804;0.953	T	0.01087	-1.1456	10	0.87932	D	0	.	13.146	0.59461	0.2919:0.7081:0.0:0.0	.	865;865;775;855;855	E7ESV8;B7Z9G9;B7Z3F6;P42261-2;P42261	.;.;.;.;GRIA1_HUMAN	W	855;855;775;855;788;786;865;865	ENSP00000285900:R855W;ENSP00000427920:R775W;ENSP00000339343:R855W;ENSP00000427864:R788W;ENSP00000442108:R786W;ENSP00000428994:R865W;ENSP00000415569:R865W	ENSP00000285900:R855W	R	+	1	2	GRIA1	153170820	0.997000	0.39634	1.000000	0.80357	0.995000	0.86356	0.503000	0.22610	0.525000	0.28522	-0.181000	0.13052	CGG		0.592	GRIA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252456.3			32	42	0	0	0	1	0	32	42					T	153190627	C	T	153190627	3	4	325	1	0	0	0	0	1	0	0	0	6767	527	19	1	2744	1	GRIA1	5	153190627	Missense_Mutation	SNP	C	TCGA-KK-A7AY-01A-11D-A33T-08	12928571	153190627	27724633	20	16623											
SLC44A4	80736	broad.mit.edu	37	chr6	31832450	31832450	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gaagcagaggaagagcgtgtCcacacacatgccgaaaacgc	15	3	12	11	3	0	2	0	0	0	2	1	5	1	3	2	1	4	1	2	1	4	0			TCGA-KK-A7AY-01A-11D-A33T-08	TCGA-KK-A7AY-11A-21D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80ac0a78-2ebc-488d-a0db-c2fda0b57966	258a8d92-ed5a-4028-a93f-28b61fa48dec	g.chr6:31832450C>T	ENST00000229729.6	-	20	2010	c.1990G>A	c.(1990-1992)Gac>Aac	p.D664N	NEU1_ENST00000375631.4_5'Flank|SLC44A4_ENST00000544672.1_Missense_Mutation_p.D588N|SLC44A4_ENST00000375562.4_Missense_Mutation_p.D622N	NM_025257.2	NP_079533.2	Q53GD3	CTL4_HUMAN	solute carrier family 44, member 4	664					acetylcholine biosynthetic process (GO:0008292)|acetylcholine secretion (GO:0061526)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|positive regulation of cell growth (GO:0030307)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(1)|urinary_tract(2)	35					Choline(DB00122)	AAGAGCGTGTCCACACACATG	0.522																																						ENST00000544672.1																			0				NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(1)|urinary_tract(2)	35						c.(1762-1764)Gac>Aac		solute carrier family 44, member 4	Choline(DB00122)						108	115	112					6																	31832450		1511	2709	4220	SO:0001583	missense	80736					integral to membrane|plasma membrane	choline transmembrane transporter activity	g.chr6:31832450C>T	AF134726	CCDS4724.2, CCDS54989.1, CCDS54990.1	6p21.3	2014-02-17	2005-09-06	2005-09-06	ENSG00000204385	ENSG00000204385		"Solute carriers"	13941	protein-coding gene	gene with protein product		606107	"chromosome 6 open reading frame 29"	C6orf29		10677542, 15715662, 24379411	Standard	NM_025257		Approved	NG22, CTL4, FLJ14491, TPPT	uc010jti.3	Q53GD3	OTTHUMG00000031133	ENST00000229729.6:c.1990G>A	6.37:g.31832450C>T	ENSP00000229729:p.Asp664Asn					SLC44A4_ENST00000375562.4_Missense_Mutation_p.D622N|SLC44A4_ENST00000229729.6_Missense_Mutation_p.D664N	p.D588N	NM_001178045.1	NP_001171516.1	Q53GD3	CTL4_HUMAN			20	2058	-			664					A2BED3|B0UXX8|B0UZY8|B4DU94|B4DWM2|E9PEK7|Q5JP84|Q5JQ93|Q658S8|Q6UX89|Q8TEW4|Q96C58|Q96K59|Q9Y332	Missense_Mutation	SNP	ENST00000229729.6	37	c.1762G>A	CCDS4724.2	.	.	.	.	.	.	.	.	.	.	C	29.7	5.027729	0.93518	.	.	ENSG00000204385	ENST00000229729;ENST00000375562;ENST00000544672	T;T;T	0.28255	1.62;1.62;1.62	4.92	4.92	0.64577	.	0.000000	0.85682	D	0.000000	T	0.63177	0.2489	H	0.95780	3.72	0.80722	D	1	D	0.71674	0.998	D	0.75484	0.986	T	0.75578	-0.3269	10	0.87932	D	0	-11.349	17.0471	0.86507	0.0:1.0:0.0:0.0	.	664	Q53GD3	CTL4_HUMAN	N	664;622;588	ENSP00000229729:D664N;ENSP00000364712:D622N;ENSP00000444109:D588N	ENSP00000229729:D664N	D	-	1	0	SLC44A4	31940429	1.000000	0.71417	1.000000	0.80357	0.865000	0.49528	5.502000	0.66956	2.549000	0.85964	0.561000	0.74099	GAC		0.522	SLC44A4-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076234.3			26	65	0	0	0	1	0	26	65					T	31832450	C	T	31832450	3	4	325	1	0	0	0	0	1	0	0	0	14638	855	30	3	150	3	SLC44A4	6	31832450	Missense_Mutation	SNP	C	TCGA-KK-A7AY-01A-11D-A33T-08		31832450	139282617	21	16624											
TPD52L1	7164	broad.mit.edu	37	chr6	125550359	125550359	+	Frame_Shift_Del	DEL	T	T	-																															ctcggcatgaacctgatgaaTgaattaaaacagaacttcag																										TCGA-KK-A7AY-01A-11D-A33T-08	TCGA-KK-A7AY-11A-21D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80ac0a78-2ebc-488d-a0db-c2fda0b57966	258a8d92-ed5a-4028-a93f-28b61fa48dec	g.chr6:125550359delT	ENST00000534000.1	+	3	527	c.231delT	c.(229-231)aatfs	p.N77fs	TPD52L1_ENST00000304877.13_Frame_Shift_Del_p.N77fs|TPD52L1_ENST00000528193.1_Frame_Shift_Del_p.N77fs|TPD52L1_ENST00000368388.2_Frame_Shift_Del_p.N77fs|HDDC2_ENST00000608456.1_Intron|TPD52L1_ENST00000368402.5_Frame_Shift_Del_p.N77fs|TPD52L1_ENST00000527711.1_Frame_Shift_Del_p.N77fs|TPD52L1_ENST00000534199.1_Frame_Shift_Del_p.N48fs|TPD52L1_ENST00000532429.1_Frame_Shift_Del_p.N48fs|TPD52L1_ENST00000524679.1_Frame_Shift_Del_p.N48fs|TPD52L1_ENST00000392482.2_Frame_Shift_Del_p.N48fs	NM_003287.2	NP_003278.1	Q16890	TPD53_HUMAN	tumor protein D52-like 1	77					G2/M transition of mitotic cell cycle (GO:0000086)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of JNK cascade (GO:0046330)|positive regulation of MAP kinase activity (GO:0043406)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)	cytoplasm (GO:0005737)|perinuclear region of cytoplasm (GO:0048471)	identical protein binding (GO:0042802)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			endometrium(2)|large_intestine(2)|prostate(1)	5			LUSC - Lung squamous cell carcinoma(4;0.0263)|Lung(4;0.0828)	GBM - Glioblastoma multiforme(226;0.0265)		ACCTGATGAATGAATTAAAAC	0.388																																						ENST00000534000.1																			0				endometrium(2)|large_intestine(2)|prostate(1)	5						c.(229-231)aafs		tumor protein D52-like 1							106	99	102					6																	125550359		2203	4300	6503	SO:0001589	frameshift_variant	0				DNA fragmentation involved in apoptotic nuclear change|G2/M transition of mitotic cell cycle|induction of apoptosis|positive regulation of JNK cascade|positive regulation of MAP kinase activity	perinuclear region of cytoplasm	caspase activator activity|protein heterodimerization activity|protein homodimerization activity	g.chr6:125550359delT	U44427	CCDS5130.1, CCDS34527.1, CCDS34528.1, CCDS43502.1, CCDS75513.1, CCDS75514.1	6q22-q23	2008-07-29			ENSG00000111907	ENSG00000111907			12006	protein-coding gene	gene with protein product		604069				8812487, 16112108	Standard	NM_003287		Approved	D53, hD53	uc003pzu.1	Q16890	OTTHUMG00000015505	ENST00000534000.1:c.231delT	6.37:g.125550359delT	ENSP00000434142:p.Asn77fs					TPD52L1_ENST00000532429.1_Frame_Shift_Del_p.N48fs|TPD52L1_ENST00000392482.2_Frame_Shift_Del_p.N48fs|TPD52L1_ENST00000524679.1_Frame_Shift_Del_p.N48fs|TPD52L1_ENST00000528193.1_Frame_Shift_Del_p.N77fs|TPD52L1_ENST00000368388.2_Frame_Shift_Del_p.N77fs|TPD52L1_ENST00000527711.1_Frame_Shift_Del_p.N77fs|TPD52L1_ENST00000304877.13_Frame_Shift_Del_p.N77fs|TPD52L1_ENST00000368402.5_Frame_Shift_Del_p.N77fs|TPD52L1_ENST00000534199.1_Frame_Shift_Del_p.N48fs	p.N77fs	NM_003287.2	NP_003278.1	Q16890	TPD53_HUMAN	LUSC - Lung squamous cell carcinoma(4;0.0263)|Lung(4;0.0828)	GBM - Glioblastoma multiforme(226;0.0265)	3	527	+			77					A8K757|A8K772|A8MUD2|A8MUJ7|A8MW70|F6V707|O43397|Q5TC99|Q5TDQ0|Q9BUQ6|Q9C054	Frame_Shift_Del	DEL	ENST00000534000.1	37	c.231delT	CCDS5130.1																																																																																				0.388	TPD52L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042065.2			43	56						43	56	---	---	---	---	-	125550359	T	-	125550359	7	5	325	1	0	1	0	1	0	0	0	0	16395	1461	51	0	241	0	TPD52L1	6	125550359	Frame_Shift_Del	DEL	T	TCGA-KK-A7AY-01A-11D-A33T-08	93717909	125550359	45564708	22	16625											
CARD11	84433	broad.mit.edu	37	chr7	2962846	2962846	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgagtgcacgaagctccctcGcgcgttgccccccagcaggg	6	5	13	17	5	0	0	0	0	0	0	2	2	1	0	4	1	4	4	4	1	1	1			TCGA-KK-A7AY-01A-11D-A33T-08	TCGA-KK-A7AY-11A-21D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80ac0a78-2ebc-488d-a0db-c2fda0b57966	258a8d92-ed5a-4028-a93f-28b61fa48dec	g.chr7:2962846G>A	ENST00000396946.4	-	16	2465	c.2062C>T	c.(2062-2064)Cga>Tga	p.R688*		NM_032415.4	NP_115791.3	Q9BXL7	CAR11_HUMAN	caspase recruitment domain family, member 11	688	PDZ.				Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|nucleotide phosphorylation (GO:0046939)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cytokine production (GO:0001819)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of T cell proliferation (GO:0042102)|regulation of apoptotic process (GO:0042981)|regulation of B cell differentiation (GO:0045577)|regulation of T cell differentiation (GO:0045580)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|thymic T cell selection (GO:0045061)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|immunological synapse (GO:0001772)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	CARD domain binding (GO:0050700)|guanylate kinase activity (GO:0004385)			NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		AAGCTCCCTCGCGCGTTGCCC	0.701			Mis		DLBCL																																	ENST00000396946.4				Dom	yes		7	7p22	84433	Mis	"caspase recruitment domain family, member 11"			L			DLBCL		0				NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150						c.(2062-2064)Cga>Tga		caspase recruitment domain family, member 11							42	43	43					7																	2962846		2203	4298	6501	SO:0001587	stop_gained	84433				positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway	cytosol|membrane raft|plasma membrane	CARD domain binding|guanylate kinase activity	g.chr7:2962846G>A	AF322641	CCDS5336.2	7p22	2014-09-17			ENSG00000198286	ENSG00000198286			16393	protein-coding gene	gene with protein product	"card-maguk protein 1", "bcl10-interacting maguk protein 3"	607210				11278692, 11356195	Standard	NM_032415		Approved	CARMA1, BIMP3	uc003smv.3	Q9BXL7	OTTHUMG00000023023	ENST00000396946.4:c.2062C>T	7.37:g.2962846G>A	ENSP00000380150:p.Arg688*						p.R688*	NM_032415.4	NP_115791.3	Q9BXL7	CAR11_HUMAN		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)	16	2465	-		Ovarian(82;0.0115)	688			PDZ.		A4D1Z7|Q2NKN7|Q548H3	Nonsense_Mutation	SNP	ENST00000396946.4	37	c.2062C>T	CCDS5336.2	.	.	.	.	.	.	.	.	.	.	G	42	9.286587	0.99125	.	.	ENSG00000198286	ENST00000396946;ENST00000355508	.	.	.	4.89	0.535	0.17133	.	0.309163	0.33217	N	0.005142	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07813	T	0.8	-4.3815	7.4554	0.27264	0.0861:0.0:0.3307:0.5832	.	.	.	.	X	688;159	.	ENSP00000347695:R159X	R	-	1	2	CARD11	2929372	0.769000	0.28531	0.000000	0.03702	0.409000	0.31022	1.841000	0.39240	0.090000	0.17273	0.555000	0.69702	CGA		0.701	CARD11-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059344.4	NM_032415		29	10	0	0	0	1	0	29	10					A	2962846	G	A	2962846	4	1	325	1	0	0	0	0	0	1	0	0	2645	1095	38	1	1442	1	CARD11	7	2962846	Nonsense_Mutation	SNP	G	TCGA-KK-A7AY-01A-11D-A33T-08		2962846	156175817	23	16626											
DLX6	1750	broad.mit.edu	37	chr7	96639271	96639271	+	Frame_Shift_Del	DEL	G	G	-																															tgcctcggccaagggtgtcaGtatgccccccaacagctaca																										TCGA-KK-A7AY-01A-11D-A33T-08	TCGA-KK-A7AY-11A-21D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80ac0a78-2ebc-488d-a0db-c2fda0b57966	258a8d92-ed5a-4028-a93f-28b61fa48dec	g.chr7:96639271delG	ENST00000518156.2	+	3	1224	c.794delG	c.(793-795)agtfs	p.S265fs	DLX6-AS1_ENST00000605417.1_RNA|DLX6-AS1_ENST00000458352.2_RNA|DLX6_ENST00000493273.2_3'UTR|DLX6-AS1_ENST00000437331.2_RNA|DLX6-AS1_ENST00000430027.3_RNA|DLX6-AS2_ENST00000606174.1_RNA|DLX6-AS1_ENST00000430404.2_RNA|DLX6_ENST00000555308.1_Frame_Shift_Del_p.S137fs|DLX6-AS1_ENST00000437541.1_RNA|DLX6-AS1_ENST00000452769.2_RNA|DLX6_ENST00000007660.5_Frame_Shift_Del_p.S237fs			P56179	DLX6_HUMAN	distal-less homeobox 6	147					anatomical structure formation involved in morphogenesis (GO:0048646)|embryonic limb morphogenesis (GO:0030326)|epithelial cell differentiation (GO:0030855)|head development (GO:0060322)|inner ear morphogenesis (GO:0042472)|nervous system development (GO:0007399)|palate development (GO:0060021)|positive regulation of epithelial cell proliferation (GO:0050679)|skeletal system development (GO:0001501)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|kidney(1)|large_intestine(1)|liver(2)|lung(4)|ovary(2)|urinary_tract(1)	12	all_cancers(62;9.56e-09)|all_epithelial(64;7.38e-09)|Esophageal squamous(72;0.0125)|all_lung(186;0.0855)|Lung NSC(181;0.0858)					AAGGGTGTCAGTATGCCCCCC	0.627																																						ENST00000518156.2																			0				central_nervous_system(1)|kidney(1)|large_intestine(1)|liver(2)|lung(4)|ovary(2)|urinary_tract(1)	12						c.(793-795)atfs		distal-less homeobox 6							35	37	36					7																	96639271		2180	4291	6471	SO:0001589	frameshift_variant	1750				nervous system development|skeletal system development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:96639271delG		CCDS47647.1, CCDS47647.2	7q21.3	2011-06-20	2005-12-22		ENSG00000006377	ENSG00000006377		"Homeoboxes / ANTP class : NKL subclass"	2919	protein-coding gene	gene with protein product		600030	"distal-less homeo box 6"			7907794	Standard	NM_005222		Approved		uc022ahu.1	P56179	OTTHUMG00000154201	ENST00000518156.2:c.794delG	7.37:g.96639271delG	ENSP00000428480:p.Ser265fs					DLX6-AS1_ENST00000458352.2_RNA|DLX6_ENST00000493273.2_3'UTR|DLX6-AS1_ENST00000452769.2_RNA|DLX6-AS1_ENST00000437331.2_RNA|DLX6-AS1_ENST00000430404.2_RNA|DLX6-AS1_ENST00000430027.2_RNA|DLX6-AS1_ENST00000437541.1_RNA|DLX6_ENST00000007660.5_Frame_Shift_Del_p.S237fs|DLX6-AS1_ENST00000605417.1_RNA|DLX6_ENST00000555308.1_Frame_Shift_Del_p.S137fs	p.S265fs			P56179	DLX6_HUMAN			3	1224	+	all_cancers(62;9.56e-09)|all_epithelial(64;7.38e-09)|Esophageal squamous(72;0.0125)|all_lung(186;0.0855)|Lung NSC(181;0.0858)		147					A4D1I2|B3KSQ0|J3KR92|Q3ZAR6|Q9UPL2	Frame_Shift_Del	DEL	ENST00000518156.2	37	c.794delG	CCDS47647.2																																																																																				0.627	DLX6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334373.4	NM_005222		21	12						21	12	---	---	---	---	-	96639271	G	-	96639271	7	5	325	1	0	1	0	1	0	0	0	0	4575	1029	36	0	804	0	DLX6	7	96639271	Frame_Shift_Del	DEL	G	TCGA-KK-A7AY-01A-11D-A33T-08	93676425	96639271	62499392	24	16627											
ZKSCAN5	23660	broad.mit.edu	37	chr7	99123549	99123550	+	Frame_Shift_Del	DEL	TT	TT	-																															gcgttcctcaggatccagacTttgcagaagtcagtgacctt																										TCGA-KK-A7AY-01A-11D-A33T-08	TCGA-KK-A7AY-11A-21D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80ac0a78-2ebc-488d-a0db-c2fda0b57966	258a8d92-ed5a-4028-a93f-28b61fa48dec	g.chr7:99123549_99123550delTT	ENST00000394170.2	+	6	1137_1138	c.886_887delTT	c.(886-888)tttfs	p.F296fs	ZKSCAN5_ENST00000326775.5_Frame_Shift_Del_p.F296fs|ZKSCAN5_ENST00000451158.1_Frame_Shift_Del_p.F296fs	NM_014569.3	NP_055384.1	Q9Y2L8	ZKSC5_HUMAN	zinc finger with KRAB and SCAN domains 5	296					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(3)|endometrium(1)|kidney(1)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	21	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)					GGATCCAGACTTTGCAGAAGTC	0.5																																						ENST00000394170.2																			0				breast(3)|endometrium(1)|kidney(1)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	21						c.(886-888)tfs		zinc finger with KRAB and SCAN domains 5																																				SO:0001589	frameshift_variant	23660				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr7:99123549_99123550delTT	AF170025	CCDS5667.1	7q22	2013-01-09	2007-02-20	2007-02-20	ENSG00000196652	ENSG00000196652		"Zinc fingers, C2H2-type", "-", "-", "-"	12867	protein-coding gene	gene with protein product		611272	"zinc finger protein homologous to Zfp95 in mouse", "zinc finger protein 95 homolog (mouse)"	ZFP95		10585779	Standard	NM_014569		Approved	ZNF914, ZSCAN37	uc003uqv.3	Q9Y2L8	OTTHUMG00000156749	ENST00000394170.2:c.886_887delTT	7.37:g.99123549_99123550delTT	ENSP00000377725:p.Phe296fs					ZKSCAN5_ENST00000451158.1_Frame_Shift_Del_p.F296fs|ZKSCAN5_ENST00000326775.5_Frame_Shift_Del_p.F296fs	p.F296fs	NM_014569.3	NP_055384.1	Q9Y2L8	ZKSC5_HUMAN			6	1137_1138	+	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)		296					A4D280|D6W5S9	Frame_Shift_Del	DEL	ENST00000394170.2	37	c.886_887delTT	CCDS5667.1																																																																																				0.5	ZKSCAN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345597.1	NM_014569		21	88						21	88	---	---	---	---	-	99123550	TT	-	99123549	7	5	325	1	0	1	0	1	0	0	0	0	17687	1609	56	0	904	0	ZKSCAN5	7	99123549	Frame_Shift_Del	DEL	TT	TCGA-KK-A7AY-01A-11D-A33T-08	2484278	99123549	60015114	25	16628											
ARHGEF5	7984	broad.mit.edu	37	chr7	144062368	144062368	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggagcactcggggaggacAtatgaactcagggggtcatg	11	6	16	8	1	2	1	2	1	0	0	3	4	2	4	0	6	2	1	0	6	2	1			TCGA-KK-A7AY-01A-11D-A33T-08	TCGA-KK-A7AY-11A-21D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80ac0a78-2ebc-488d-a0db-c2fda0b57966	258a8d92-ed5a-4028-a93f-28b61fa48dec	g.chr7:144062368A>G	ENST00000056217.5	+	2	2780	c.2606A>G	c.(2605-2607)cAt>cGt	p.H869R	ARHGEF5_ENST00000471847.2_5'Flank	NM_005435.3	NP_005426.2	Q12774	ARHG5_HUMAN	Rho guanine nucleotide exchange factor (GEF) 5	869					actin cytoskeleton organization (GO:0030036)|intracellular signal transduction (GO:0035556)|myeloid dendritic cell chemotaxis (GO:0002408)|positive regulation of podosome assembly (GO:0071803)|regulation of Rho GTPase activity (GO:0032319)		GTP binding (GO:0005525)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|endometrium(6)|kidney(8)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	Melanoma(164;0.14)					CGGGGAGGACATATGAACTCA	0.622																																						ENST00000056217.5																			0				breast(1)|endometrium(6)|kidney(8)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						c.(2605-2607)cAt>cGt		Rho guanine nucleotide exchange factor (GEF) 5							69	80	76					7																	144062368		2202	4298	6500	SO:0001583	missense	7984				intracellular signal transduction|regulation of Rho protein signal transduction	intracellular	GTP binding|protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr7:144062368A>G	U02082	CCDS34771.1	7q35	2012-09-20			ENSG00000050327	ENSG00000050327		"Rho guanine nucleotide exchange factors"	13209	protein-coding gene	gene with protein product	"transforming immortalized mammary oncogene", "guanine nucleotide regulatory protein TIM"	600888				8134109, 7656213	Standard	NM_005435		Approved	TIM, TIM1, GEF5, P60	uc003wel.3	Q12774	OTTHUMG00000158004	ENST00000056217.5:c.2606A>G	7.37:g.144062368A>G	ENSP00000056217:p.His869Arg						p.H869R	NM_005435.3	NP_005426.2	Q12774	ARHG5_HUMAN			2	2780	+	Melanoma(164;0.14)		869					A6NNJ2|Q6ZML7	Missense_Mutation	SNP	ENST00000056217.5	37	c.2606A>G	CCDS34771.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	1.922|1.922	-0.448112|-0.448112	0.04572|0.04572	.|.	.|.	ENSG00000050327|ENSG00000050327	ENST00000056217|ENST00000474817	T|.	0.72394|.	-0.65|.	4.27|4.27	1.78|1.78	0.24846|0.24846	.|.	0.737757|.	0.11554|.	N|.	0.552482|.	T|T	0.18383|0.18383	0.0441|0.0441	N|N	0.14661|0.14661	0.345|0.345	0.09310|0.09310	N|N	1|1	B|.	0.22414|.	0.069|.	B|.	0.20384|.	0.029|.	T|T	0.21245|0.21245	-1.0251|-1.0251	10|5	0.23891|.	T|.	0.37|.	-7.973|-7.973	3.5049|3.5049	0.07686|0.07686	0.2072:0.1124:0.0:0.6804|0.2072:0.1124:0.0:0.6804	.|.	869|.	Q12774|.	ARHG5_HUMAN|.	R|V	869|123	ENSP00000056217:H869R|.	ENSP00000056217:H869R|.	H|I	+|+	2|1	0|0	ARHGEF5|ARHGEF5	143693301|143693301	0.004000|0.004000	0.15560|0.15560	0.136000|0.136000	0.22124|0.22124	0.027000|0.027000	0.11550|0.11550	1.108000|1.108000	0.31123|0.31123	0.678000|0.678000	0.31325|0.31325	-0.542000|-0.542000	0.04241|0.04241	CAT|ATA		0.622	ARHGEF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349981.1	NM_005435		4	94	0	0	0	1	0	4	94					G	144062368	A	G	144062368	3	3	325	1	0	0	0	0	1	0	0	0	909	217	8	4	2608	4	ARHGEF5	7	144062368	Missense_Mutation	SNP	A	TCGA-KK-A7AY-01A-11D-A33T-08	44938819	144062368	15076295	26	16629											
ADAMDEC1	27299	broad.mit.edu	37	chr8	24261576	24261576	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgaagcctggaactgattgcGgaggagatgctccaaaccat	12	8	12	9	1	0	3	0	2	0	1	1	6	1	5	3	3	5	1	3	3	3	1	rs146989743	byFrequency	TCGA-KK-A7AY-01A-11D-A33T-08	TCGA-KK-A7AY-11A-21D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80ac0a78-2ebc-488d-a0db-c2fda0b57966	258a8d92-ed5a-4028-a93f-28b61fa48dec	g.chr8:24261576G>A	ENST00000256412.4	+	13	1601	c.1381G>A	c.(1381-1383)Gga>Aga	p.G461R	ADAMDEC1_ENST00000522298.1_Missense_Mutation_p.G382R|RP11-624C23.1_ENST00000519689.1_RNA|RP11-624C23.1_ENST00000523578.1_RNA|ADAMDEC1_ENST00000538205.1_Missense_Mutation_p.G382R	NM_014479.3	NP_055294.1	O15204	ADEC1_HUMAN	ADAM-like, decysin 1	461	Disintegrin. {ECO:0000255|PROSITE- ProRule:PRU00068}.				immune response (GO:0006955)|negative regulation of cell adhesion (GO:0007162)	extracellular region (GO:0005576)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|large_intestine(4)|skin(2)|stomach(1)	9		Prostate(55;0.0181)		Colorectal(74;0.016)|COAD - Colon adenocarcinoma(73;0.0646)|BRCA - Breast invasive adenocarcinoma(99;0.168)		AACTGATTGCGGAGGAGATGC	0.423																																					Ovarian(147;687 1849 3699 25981 31337)	ENST00000538205.1																			0				NS(1)|breast(1)|large_intestine(4)|skin(2)|stomach(1)	9						c.(1144-1146)Gga>Aga		ADAM-like, decysin 1		G	ARG/GLY,ARG/GLY,ARG/GLY	5,4401	9.9+/-24.2	0,5,2198	216	199	205		1144,1144,1381	0.9	0	8	dbSNP_134	205	1,8599		0,1,4299	yes	missense,missense,missense	ADAMDEC1	NM_001145271.1,NM_001145272.1,NM_014479.3	125,125,125	0,6,6497	AA,AG,GG		0.0116,0.1135,0.0461	benign,benign,benign	382/392,382/392,461/471	24261576	6,13000	2203	4300	6503	SO:0001583	missense	27299				integrin-mediated signaling pathway|negative regulation of cell adhesion|proteolysis	extracellular region|integral to membrane	integrin binding|metalloendopeptidase activity|zinc ion binding	g.chr8:24261576G>A	Y13323	CCDS6044.1, CCDS55212.1	8p12	2008-08-07			ENSG00000134028	ENSG00000134028			16299	protein-coding gene	gene with protein product		606393				9271581, 12037602	Standard	NM_001145271		Approved	M12.219	uc003xdz.2	O15204	OTTHUMG00000097858	ENST00000256412.4:c.1381G>A	8.37:g.24261576G>A	ENSP00000256412:p.Gly461Arg					RP11-624C23.1_ENST00000519689.1_RNA|RP11-624C23.1_ENST00000523578.1_RNA|ADAMDEC1_ENST00000256412.4_Missense_Mutation_p.G461R|ADAMDEC1_ENST00000522298.1_Missense_Mutation_p.G382R	p.G382R	NM_001145271.1	NP_001138743.1	O15204	ADEC1_HUMAN		Colorectal(74;0.016)|COAD - Colon adenocarcinoma(73;0.0646)|BRCA - Breast invasive adenocarcinoma(99;0.168)	14	1691	+		Prostate(55;0.0181)	461			Peptidase M12B.		B7ZAK5	Missense_Mutation	SNP	ENST00000256412.4	37	c.1144G>A	CCDS6044.1	.	.	.	.	.	.	.	.	.	.	G	9.820	1.185402	0.21870	0.001135	1.16E-4	ENSG00000134028	ENST00000256412;ENST00000538205;ENST00000522298	T;T;T	0.10763	2.84;2.84;2.84	5.34	0.936	0.19488	Blood coagulation inhibitor, Disintegrin (3);	1.118330	0.06669	N	0.765787	T	0.08714	0.0216	L	0.28115	0.83	0.09310	N	1	B	0.16396	0.017	B	0.18561	0.022	T	0.42085	-0.9472	10	0.37606	T	0.19	0.0837	7.6455	0.28318	0.3973:0.0:0.6027:0.0	.	461	O15204	ADEC1_HUMAN	R	461;382;382	ENSP00000256412:G461R;ENSP00000442592:G382R;ENSP00000428993:G382R	ENSP00000256412:G461R	G	+	1	0	ADAMDEC1	24317521	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-0.355000	0.07671	-0.128000	0.11641	0.305000	0.20034	GGA		0.423	ADAMDEC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215149.2	NM_014479		16	29	0	0	0	1	0	16	29					A	24261576	G	A	24261576	3	1	325	1	0	0	0	0	1	0	0	0	254	1117	39	2	1431	2	ADAMDEC1	8	24261576	Missense_Mutation	SNP	G	TCGA-KK-A7AY-01A-11D-A33T-08		24261576	122102446	27	16630											
AKR1C3	8644	broad.mit.edu	37	chr10	5139704	5139704	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agaaagctcaattggactatGttgacctctatcttattcat	12	15	6	8	0	4	2	2	1	2	1	4	3	4	3	1	1	1	2	1	1	5	6			TCGA-KK-A7AY-01A-11D-A33T-08	TCGA-KK-A7AY-11A-21D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80ac0a78-2ebc-488d-a0db-c2fda0b57966	258a8d92-ed5a-4028-a93f-28b61fa48dec	g.chr10:5139704G>A	ENST00000380554.3	+	3	983	c.331G>A	c.(331-333)Gtt>Att	p.V111I	AKR1C3_ENST00000439082.2_De_novo_Start_OutOfFrame|AKR1C3_ENST00000605149.1_Missense_Mutation_p.V88I|AKR1C3_ENST00000470862.2_3'UTR	NM_001253908.1|NM_003739.5	NP_001240837.1|NP_003730.4	P42330	AK1C3_HUMAN	aldo-keto reductase family 1, member C3	111					arachidonic acid metabolic process (GO:0019369)|cellular response to cadmium ion (GO:0071276)|cellular response to calcium ion (GO:0071277)|cellular response to corticosteroid stimulus (GO:0071384)|cellular response to jasmonic acid stimulus (GO:0071395)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to reactive oxygen species (GO:0034614)|cellular response to starvation (GO:0009267)|cyclooxygenase pathway (GO:0019371)|daunorubicin metabolic process (GO:0044597)|doxorubicin metabolic process (GO:0044598)|farnesol catabolic process (GO:0016488)|G-protein coupled receptor signaling pathway (GO:0007186)|keratinocyte differentiation (GO:0030216)|male gonad development (GO:0008584)|multicellular organismal macromolecule metabolic process (GO:0044259)|negative regulation of retinoic acid biosynthetic process (GO:1900053)|oxidation-reduction process (GO:0055114)|phototransduction, visible light (GO:0007603)|positive regulation of cell death (GO:0010942)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell apoptotic process (GO:2000353)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|progesterone metabolic process (GO:0042448)|prostaglandin metabolic process (GO:0006693)|protein import into nucleus, translocation (GO:0000060)|regulation of retinoic acid receptor signaling pathway (GO:0048385)|regulation of testosterone biosynthetic process (GO:2000224)|renal absorption (GO:0070293)|response to nutrient (GO:0007584)|response to prostaglandin (GO:0034694)|retinal metabolic process (GO:0042574)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|testosterone biosynthetic process (GO:0061370)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|nucleus (GO:0005634)	15-hydroxyprostaglandin-D dehydrogenase (NADP+) activity (GO:0047020)|alditol:NADP+ 1-oxidoreductase activity (GO:0004032)|aldo-keto reductase (NADP) activity (GO:0004033)|androsterone dehydrogenase activity (GO:0047023)|delta4-3-oxosteroid 5beta-reductase activity (GO:0047787)|dihydrotestosterone 17-beta-dehydrogenase activity (GO:0035410)|geranylgeranyl reductase activity (GO:0045550)|indanol dehydrogenase activity (GO:0047718)|ketoreductase activity (GO:0045703)|ketosteroid monooxygenase activity (GO:0047086)|oxidoreductase activity, acting on NAD(P)H, quinone or similar compound as acceptor (GO:0016655)|phenanthrene 9,10-monooxygenase activity (GO:0018636)|prostaglandin D2 11-ketoreductase activity (GO:0036131)|prostaglandin F receptor activity (GO:0004958)|prostaglandin-F synthase activity (GO:0047017)|retinal dehydrogenase activity (GO:0001758)|retinol dehydrogenase activity (GO:0004745)|testosterone 17-beta-dehydrogenase (NADP+) activity (GO:0047045)|testosterone dehydrogenase (NAD+) activity (GO:0047035)|trans-1,2-dihydrobenzene-1,2-diol dehydrogenase activity (GO:0047115)			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|skin(1)	14					Bimatoprost(DB00905)|Doxorubicin(DB00997)	ATTGGACTATGTTGACCTCTA	0.403																																						ENST00000439082.2																			0				breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|skin(1)	14								aldo-keto reductase family 1, member C3	Dimethyl sulfoxide(DB01093)|NADH(DB00157)						146	138	141					10																	5139704		2203	4300	6503	SO:0001583	missense	8644				prostaglandin metabolic process	cytoplasm	aldo-keto reductase (NADP) activity|androsterone dehydrogenase (A-specific) activity|indanol dehydrogenase activity|prostaglandin-F synthase activity|testosterone 17-beta-dehydrogenase (NAD+) activity|testosterone 17-beta-dehydrogenase (NADP+) activity|trans-1,2-dihydrobenzene-1,2-diol dehydrogenase activity	g.chr10:5139704G>A	L43839	CCDS7063.1, CCDS73062.1	10p15-p14	2012-12-04	2012-12-04		ENSG00000196139	ENSG00000196139	1.1.1.213, 1.1.1.188	"Aldo-keto reductases"	386	protein-coding gene	gene with protein product	"dihydrodiol dehydrogenase X", "prostaglandin F synthase", "3-alpha hydroxysteroid dehydrogenase, type II"	603966	"hydroxysteroid (17-beta) dehydrogenase 5", "aldo-keto reductase family 1, member C3 (3-alpha hydroxysteroid dehydrogenase, type II)"	HSD17B5		7650035, 9792917	Standard	NM_003739		Approved	KIAA0119, DDX, HAKRB, PGFS	uc021pml.1	P42330	OTTHUMG00000017585	ENST00000380554.3:c.331G>A	10.37:g.5139704G>A	ENSP00000369927:p.Val111Ile					AKR1C3_ENST00000470862.2_3'UTR|AKR1C3_ENST00000605149.1_Missense_Mutation_p.V88I|AKR1C3_ENST00000380554.3_Missense_Mutation_p.V111I				P42330	AK1C3_HUMAN			0	444	+								A8K2V0|B4DL37|Q5T2L1|Q96DJ1|Q96KI8|Q99530|Q9UCX1|Q9UII3|Q9UKL9	Translation_Start_Site	SNP	ENST00000380554.3	37		CCDS7063.1	.	.	.	.	.	.	.	.	.	.	G	3.380	-0.126645	0.06795	.	.	ENSG00000196139	ENST00000380554	T	0.45276	0.9	1.62	0.671	0.17929	NADP-dependent oxidoreductase domain (3);	0.237158	0.29558	N	0.011809	T	0.24005	0.0581	N	0.13140	0.3	0.80722	D	1	B;B;B	0.30326	0.276;0.02;0.02	B;B;B	0.37387	0.248;0.078;0.078	T	0.03773	-1.1005	10	0.44086	T	0.13	.	4.0982	0.10002	0.3926:0.0:0.6074:0.0	.	111;111;111	B4DKT3;P42330;Q2XPP3	.;AK1C3_HUMAN;.	I	111	ENSP00000369927:V111I	ENSP00000369927:V111I	V	+	1	0	AKR1C3	5129704	1.000000	0.71417	0.072000	0.20136	0.187000	0.23431	2.141000	0.42168	0.234000	0.21139	0.305000	0.20034	GTT		0.403	AKR1C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046533.2	NM_003739		34	46	0	0	0	1	0	34	46					A	5139704	G	A	5139704	3	1	325	1	0	0	0	0	1	0	0	0	471	1377	48	3	341	3	AKR1C3	10	5139704	Missense_Mutation	SNP	G	TCGA-KK-A7AY-01A-11D-A33T-08		5139704	130395043	28	16631											
KIF20B	9585	broad.mit.edu	37	chr10	91474844	91474844	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctttgaaatttacaatgaatAtatttatgacttatttgttc	13	20	4	4	0	0	3	0	3	0	0	1	3	0	3	0	0	1	1	0	0	8	10			TCGA-KK-A7AY-01A-11D-A33T-08	TCGA-KK-A7AY-11A-21D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80ac0a78-2ebc-488d-a0db-c2fda0b57966	258a8d92-ed5a-4028-a93f-28b61fa48dec	g.chr10:91474844A>G	ENST00000371728.3	+	8	910	c.845A>G	c.(844-846)tAt>tGt	p.Y282C	KIF20B_ENST00000394289.2_Missense_Mutation_p.Y282C|KIF20B_ENST00000260753.4_Missense_Mutation_p.Y282C|KIF20B_ENST00000416354.1_Missense_Mutation_p.Y282C	NM_001284259.1	NP_001271188.1	Q96Q89	KI20B_HUMAN	kinesin family member 20B	282	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|microtubule-based movement (GO:0007018)|mitotic nuclear division (GO:0007067)|neural tube closure (GO:0001843)|regulation of establishment of cell polarity (GO:2000114)|regulation of establishment of protein localization (GO:0070201)|regulation of mitosis (GO:0007088)|regulation of neuron migration (GO:2001222)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|WW domain binding (GO:0050699)			endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	58						TACAATGAATATATTTATGAC	0.299																																						ENST00000416354.1																			0				endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	58						c.(844-846)tAt>tGt		kinesin family member 20B							44	50	48					10																	91474844		2200	4281	6481	SO:0001583	missense	9585				cell cycle arrest|cell division|microtubule-based movement|mitosis|regulation of mitosis	centrosome|microtubule|nucleolus|nucleoplasm|spindle	ATP binding|ATPase activity|microtubule motor activity|WW domain binding	g.chr10:91474844A>G	L16782	CCDS7407.1, CCDS60590.1	10q23.31	2009-08-06	2008-07-31	2008-07-31	ENSG00000138182	ENSG00000138182			7212	protein-coding gene	gene with protein product	"cancer/testis antigen 90"	605498	"M-phase phosphoprotein 1"	MPHOSPH1		8885239, 8290587, 11470801	Standard	NM_016195		Approved	MPP1, KRMP1, CT90	uc001kgr.1	Q96Q89	OTTHUMG00000018725	ENST00000371728.3:c.845A>G	10.37:g.91474844A>G	ENSP00000360793:p.Tyr282Cys					KIF20B_ENST00000260753.4_Missense_Mutation_p.Y282C|KIF20B_ENST00000394289.2_Missense_Mutation_p.Y282C|KIF20B_ENST00000371728.3_Missense_Mutation_p.Y282C	p.Y282C			Q96Q89	KI20B_HUMAN			8	917	+			282			Kinesin-motor.		A8MXM7|O43277|Q09471|Q2KQ73|Q32NE1|Q561V3|Q58EX8|Q5T9M8|Q5T9M9|Q5T9N0|Q5T9N1|Q7KZ68|Q7Z5E0|Q7Z5E1|Q7Z6M9|Q86X82|Q9H3R8|Q9H6Q9|Q9H755|Q9NTC1|Q9UFR5	Missense_Mutation	SNP	ENST00000371728.3	37	c.845A>G		.	.	.	.	.	.	.	.	.	.	A	9.878	1.200926	0.22121	.	.	ENSG00000138182	ENST00000260753;ENST00000416354;ENST00000394289;ENST00000371728;ENST00000439656	T;T;T;T	0.74947	-0.89;-0.89;-0.89;-0.89	5.66	2.36	0.29203	Kinesin, motor domain (4);	0.561347	0.16328	N	0.219222	T	0.51500	0.1678	N	0.10733	0.035	0.26603	N	0.972973	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.0	T	0.38672	-0.9650	10	0.27785	T	0.31	-1.2348	9.6725	0.40021	0.1372:0.0:0.739:0.1238	.	282;282	Q96Q89;Q96Q89-3	KI20B_HUMAN;.	C	282	ENSP00000260753:Y282C;ENSP00000411545:Y282C;ENSP00000377830:Y282C;ENSP00000360793:Y282C	ENSP00000260753:Y282C	Y	+	2	0	KIF20B	91464824	0.991000	0.36638	0.999000	0.59377	0.982000	0.71751	0.478000	0.22212	0.749000	0.32854	-0.182000	0.12963	TAT		0.299	KIF20B-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000049330.1	NM_016195		3	43	0	0	0	1	0	3	43					G	91474844	A	G	91474844	3	3	325	1	0	0	0	0	1	0	0	0	8287	449	16	4	871	4	KIF20B	10	91474844	Missense_Mutation	SNP	A	TCGA-KK-A7AY-01A-11D-A33T-08	86335140	91474844	44059903	29	16632											
HECTD2	143279	broad.mit.edu	37	chr10	93220201	93220201	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cagtgagagaaccaccaccaAtttgccttgatgttagacaa	14	9	8	10	0	0	4	0	2	0	2	0	5	0	4	4	0	2	1	4	0	4	3			TCGA-KK-A7AY-01A-11D-A33T-08	TCGA-KK-A7AY-11A-21D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80ac0a78-2ebc-488d-a0db-c2fda0b57966	258a8d92-ed5a-4028-a93f-28b61fa48dec	g.chr10:93220201A>G	ENST00000298068.5	+	3	380	c.286A>G	c.(286-288)Att>Gtt	p.I96V	HECTD2_ENST00000536715.1_5'Flank|HECTD2_ENST00000446394.1_Missense_Mutation_p.I96V|HECTD2_ENST00000371681.4_Missense_Mutation_p.I96V	NM_182765.3	NP_877497	Q5U5R9	HECD2_HUMAN	HECT domain containing E3 ubiquitin protein ligase 2	96					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			breast(2)|endometrium(2)|kidney(4)|large_intestine(10)|lung(7)|skin(1)|urinary_tract(1)	27						ACCACCACCAATTTGCCTTGA	0.353																																					NSCLC(12;376 469 1699 39910 41417)	ENST00000446394.1																			0				breast(2)|endometrium(2)|kidney(4)|large_intestine(10)|lung(7)|skin(1)|urinary_tract(1)	27						c.(286-288)Att>Gtt		HECT domain containing E3 ubiquitin protein ligase 2							149	140	143					10																	93220201		2203	4300	6503	SO:0001583	missense	143279				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	ubiquitin-protein ligase activity	g.chr10:93220201A>G	AK094625	CCDS7414.1, CCDS7415.1, CCDS60591.1	10q23.32	2013-09-20	2012-02-23		ENSG00000165338	ENSG00000165338			26736	protein-coding gene	gene with protein product			"HECT domain containing 2"			8619474, 9110174	Standard	NM_001284274		Approved	FLJ37306	uc001khl.2	Q5U5R9	OTTHUMG00000018742	ENST00000298068.5:c.286A>G	10.37:g.93220201A>G	ENSP00000298068:p.Ile96Val					HECTD2_ENST00000371681.4_Missense_Mutation_p.I96V|HECTD2_ENST00000298068.5_Missense_Mutation_p.I96V	p.I96V			Q5U5R9	HECD2_HUMAN			3	386	+			96					Q5VZ97|Q5VZ98|Q5VZ99|Q8N1X7|Q8TCP5	Missense_Mutation	SNP	ENST00000298068.5	37	c.286A>G	CCDS7414.1	.	.	.	.	.	.	.	.	.	.	A	5.893	0.348947	0.11182	.	.	ENSG00000165338	ENST00000446394;ENST00000371681;ENST00000298068	T;T;T	0.51817	1.24;0.69;1.24	5.26	-3.13	0.05266	.	0.364321	0.29745	N	0.011306	T	0.34135	0.0887	L	0.59436	1.845	0.80722	D	1	B;B;B	0.16603	0.001;0.004;0.018	B;B;B	0.14578	0.001;0.003;0.011	T	0.04593	-1.0940	10	0.25106	T	0.35	.	6.4207	0.21742	0.4271:0.2318:0.341:0.0	.	96;96;96	E7ERR3;Q5U5R9;Q5VZ98	.;HECD2_HUMAN;.	V	96	ENSP00000401023:I96V;ENSP00000360746:I96V;ENSP00000298068:I96V	ENSP00000298068:I96V	I	+	1	0	HECTD2	93210181	0.011000	0.17503	0.804000	0.32291	0.126000	0.20510	-0.158000	0.10070	-0.936000	0.03723	-1.391000	0.01154	ATT		0.353	HECTD2-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098620.1			51	34	0	0	0	1	0	51	34					G	93220201	A	G	93220201	3	3	325	1	0	0	0	0	1	0	0	0	7040	101	4	4	296	4	HECTD2	10	93220201	Missense_Mutation	SNP	A	TCGA-KK-A7AY-01A-11D-A33T-08	1745357	93220201	42314546	30	16633											
NAV2	89797	broad.mit.edu	37	chr11	20005785	20005785	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acctccctgggcctcggagaCgctgacaggtaagcttgctg	7	8	13	13	2	0	2	0	1	0	1	2	3	1	2	3	3	2	4	3	3	1	2	rs143699420		TCGA-KK-A7AY-01A-11D-A33T-08	TCGA-KK-A7AY-11A-21D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80ac0a78-2ebc-488d-a0db-c2fda0b57966	258a8d92-ed5a-4028-a93f-28b61fa48dec	g.chr11:20005785C>T	ENST00000396087.3	+	12	2928	c.2829C>T	c.(2827-2829)gaC>gaT	p.D943D	NAV2_ENST00000360655.4_Silent_p.D856D|NAV2_ENST00000540292.1_Silent_p.D874D|NAV2-AS3_ENST00000534036.1_RNA|NAV2_ENST00000349880.4_Silent_p.D920D|NAV2_ENST00000396085.1_Silent_p.D920D|NAV2_ENST00000527559.2_Silent_p.D872D	NM_001244963.1	NP_001231892.1	Q8IVL1	NAV2_HUMAN	neuron navigator 2	943					glossopharyngeal nerve development (GO:0021563)|locomotory behavior (GO:0007626)|optic nerve development (GO:0021554)|regulation of systemic arterial blood pressure by baroreceptor feedback (GO:0003025)|sensory perception of smell (GO:0007608)|sensory perception of sound (GO:0007605)|vagus nerve development (GO:0021564)	interstitial matrix (GO:0005614)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|heparin binding (GO:0008201)			NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						GCCTCGGAGACGCTGACAGGT	0.587																																						ENST00000396085.1																			0				NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						c.(2758-2760)gaC>gaT		neuron navigator 2		C	,,	0,4406		0,0,2203	88	81	83		2568,2760,2760	-8.3	0.5	11	dbSNP_134	83	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous,coding-synonymous,coding-synonymous	NAV2	NM_001111018.1,NM_145117.4,NM_182964.5	,,	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	,,	856/2366,920/2430,920/2433	20005785	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	89797					nucleus	ATP binding|helicase activity	g.chr11:20005785C>T	AB037840	CCDS7850.1, CCDS7851.2, CCDS44552.1, CCDS53612.1, CCDS58126.1	11p15.1	2008-07-18			ENSG00000166833	ENSG00000166833	3.6.1.1		15997	protein-coding gene	gene with protein product	"pore membrane and/or filament interacting like protein 2", "retinoic acid inducible gene in neuroblastoma 1", "helicase, APC down-regulated 1"	607026				12079279, 12062803	Standard	NM_145117		Approved	FLJ10633, FLJ11030, HELAD1, KIAA1419, POMFIL2, RAINB1, FLJ23707	uc010rdm.2	Q8IVL1	OTTHUMG00000151837	ENST00000396087.3:c.2829C>T	11.37:g.20005785C>T						NAV2_ENST00000396087.3_Silent_p.D943D|NAV2_ENST00000527559.2_Silent_p.D872D|NAV2_ENST00000360655.4_Silent_p.D856D|NAV2_ENST00000349880.4_Silent_p.D920D|NAV2_ENST00000540292.1_Silent_p.D874D	p.D920D	NM_182964.5	NP_892009.3	Q8IVL1	NAV2_HUMAN			11	3121	+			943					A6NEC1|Q8IVK3|Q8IVK4|Q8IVK5|Q8IVK6|Q8IVK7|Q8IVK8|Q8NHC9|Q8NHD0|Q8TDE9|Q8TDF0|Q8TEB3|Q96B30|Q9NUZ6|Q9NVM7|Q9P2C8	Silent	SNP	ENST00000396087.3	37	c.2760C>T	CCDS58126.1																																																																																				0.587	NAV2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324112.1	NM_145117		17	34	0	0	0	1	0	17	34					T	20005785	C	T	20005785	2	4	325	1	0	0	0	0	0	0	0	1	10184	535	19	1		1	NAV2	11	20005785	Silent	SNP	C	TCGA-KK-A7AY-01A-11D-A33T-08		20005785	115000731	31	16634											
CD69	969	broad.mit.edu	37	chr12	9913370	9913370	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tactttcttgtccactctccGgatgcaaagagctgttctct	7	15	7	12	1	3	1	0	0	3	1	6	2	4	2	2	1	3	3	2	1	2	4			TCGA-KK-A7AY-01A-11D-A33T-08	TCGA-KK-A7AY-11A-21D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80ac0a78-2ebc-488d-a0db-c2fda0b57966	258a8d92-ed5a-4028-a93f-28b61fa48dec	g.chr12:9913370G>C	ENST00000228434.3	-	1	127	c.47C>G	c.(46-48)cCg>cGg	p.P16R	CD69_ENST00000536709.1_Missense_Mutation_p.P16R	NM_001781.2	NP_001772.1	Q07108	CD69_HUMAN	CD69 molecule	16					cellular response to drug (GO:0035690)|signal transduction (GO:0007165)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|transmembrane signaling receptor activity (GO:0004888)			endometrium(1)|large_intestine(3)|lung(4)|pancreas(1)|upper_aerodigestive_tract(1)	10						TCCACTCTCCGGATGCAAAGA	0.363																																						ENST00000228434.3																			0				endometrium(1)|large_intestine(3)|lung(4)|pancreas(1)|upper_aerodigestive_tract(1)	10						c.(46-48)cCg>cGg		CD69 molecule							157	143	148					12																	9913370		2203	4300	6503	SO:0001583	missense	969					integral to plasma membrane	sugar binding|transmembrane receptor activity	g.chr12:9913370G>C	Z22576	CCDS8604.1	12p13	2011-08-30	2006-03-28		ENSG00000110848	ENSG00000110848		"C-type lectin domain containing", "CD molecules"	1694	protein-coding gene	gene with protein product		107273	"CD69 antigen (p60, early T-cell activation antigen)"			1612643	Standard	NM_001781		Approved	CLEC2C	uc001qwk.3	Q07108	OTTHUMG00000168481	ENST00000228434.3:c.47C>G	12.37:g.9913370G>C	ENSP00000228434:p.Pro16Arg					CD69_ENST00000536709.1_Missense_Mutation_p.P16R	p.P16R	NM_001781.2	NP_001772.1	Q07108	CD69_HUMAN			1	127	-			16						Missense_Mutation	SNP	ENST00000228434.3	37	c.47C>G	CCDS8604.1	.	.	.	.	.	.	.	.	.	.	G	5.376	0.254616	0.10185	.	.	ENSG00000110848	ENST00000228434;ENST00000536709	T;T	0.01527	5.13;4.8	5.0	-1.89	0.07689	.	0.859911	0.09869	N	0.745178	T	0.02083	0.0065	L	0.44542	1.39	0.09310	N	0.999998	P;P	0.41624	0.757;0.591	B;B	0.43123	0.409;0.149	T	0.43310	-0.9399	9	.	.	.	6.332	4.6871	0.12762	0.4013:0.0:0.4354:0.1633	.	16;16	B4E0H7;Q07108	.;CD69_HUMAN	R	16	ENSP00000228434:P16R;ENSP00000442597:P16R	.	P	-	2	0	CD69	9804637	0.000000	0.05858	0.142000	0.22268	0.161000	0.22273	-0.432000	0.06956	-0.397000	0.07691	-0.302000	0.09304	CCG		0.363	CD69-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399876.1			26	50	0	0	0	1	0	26	50					C	9913370	G	C	9913370	3	2	325	1	0	0	0	0	1	0	0	0	3031	1116	39	5	572	5	CD69	12	9913370	Missense_Mutation	SNP	G	TCGA-KK-A7AY-01A-11D-A33T-08		9913370	123938525	32	16635											
STYK1	55359	broad.mit.edu	37	chr12	10777358	10777358	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcgggtgtaaacttcataaGccaggcctaatccacagagc	12	8	9	12	1	1	1	1	0	0	1	3	1	2	1	3	2	3	1	3	2	4	4			TCGA-KK-A7AY-01A-11D-A33T-08	TCGA-KK-A7AY-11A-21D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80ac0a78-2ebc-488d-a0db-c2fda0b57966	258a8d92-ed5a-4028-a93f-28b61fa48dec	g.chr12:10777358G>A	ENST00000075503.3	-	8	1338	c.818C>T	c.(817-819)gCt>gTt	p.A273V		NM_018423.2	NP_060893.2	Q6J9G0	STYK1_HUMAN	serine/threonine/tyrosine kinase 1	273	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)			breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|liver(1)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	26						AACTTCATAAGCCAGGCCTAA	0.507										HNSCC(73;0.22)																												ENST00000075503.3																			0				breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|liver(1)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	26						c.(817-819)gCt>gTt		serine/threonine/tyrosine kinase 1							206	200	202					12																	10777358		2203	4300	6503	SO:0001583	missense	55359					integral to membrane|plasma membrane	ATP binding|non-membrane spanning protein tyrosine kinase activity	g.chr12:10777358G>A	AF251059	CCDS8629.1	12p13.2	2005-01-21							18889	protein-coding gene	gene with protein product		611433				12841579	Standard	NM_018423		Approved	SuRTK106, DKFZp761P1010, NOK	uc001qys.2	Q6J9G0		ENST00000075503.3:c.818C>T	12.37:g.10777358G>A	ENSP00000075503:p.Ala273Val	HNSCC(73;0.22)					p.A273V	NM_018423.2	NP_060893.2	Q6J9G0	STYK1_HUMAN			8	1338	-			273			Protein kinase.		B2R9T2|Q52LR3|Q9BXY2|Q9NSH1	Missense_Mutation	SNP	ENST00000075503.3	37	c.818C>T	CCDS8629.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.204331	0.79127	.	.	ENSG00000060140	ENST00000075503	T	0.73789	-0.78	4.88	4.88	0.63580	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	D	0.000004	D	0.85496	0.5710	M	0.79343	2.45	0.58432	D	0.999993	D	0.56746	0.977	D	0.67382	0.951	D	0.87537	0.2456	10	0.87932	D	0	-12.8068	15.8643	0.79052	0.0:0.0:1.0:0.0	.	273	Q6J9G0	STYK1_HUMAN	V	273	ENSP00000075503:A273V	ENSP00000075503:A273V	A	-	2	0	STYK1	10668625	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	6.436000	0.73417	2.419000	0.82065	0.655000	0.94253	GCT		0.507	STYK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399622.1	NM_018423		50	89	0	0	0	1	0	50	89					A	10777358	G	A	10777358	3	1	325	1	0	0	0	0	1	0	0	0	15358	971	34	3	466	3	STYK1	12	10777358	Missense_Mutation	SNP	G	TCGA-KK-A7AY-01A-11D-A33T-08	863988	10777358	123074537	33	16636											
KIAA0528	9847	broad.mit.edu	37	chr12	22646232	22646232	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	catgtgattttatttcttgtCtgatttctgcccaccatgca	7	18	6	10	0	3	2	0	2	3	0	3	2	3	2	2	0	2	1	2	0	1	5			TCGA-KK-A7AY-01A-11D-A33T-08	TCGA-KK-A7AY-11A-21D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80ac0a78-2ebc-488d-a0db-c2fda0b57966	258a8d92-ed5a-4028-a93f-28b61fa48dec	g.chr12:22646232C>T	ENST00000333957.4	-	11	1442	c.1187G>A	c.(1186-1188)aGa>aAa	p.R396K	C2CD5_ENST00000544930.1_Missense_Mutation_p.R211K|C2CD5_ENST00000542676.1_Missense_Mutation_p.R396K|C2CD5_ENST00000545552.1_Missense_Mutation_p.R409K|C2CD5_ENST00000446597.1_Missense_Mutation_p.R396K|C2CD5_ENST00000536386.1_Missense_Mutation_p.R398K|C2CD5_ENST00000396028.2_Missense_Mutation_p.R387K	NM_014802.1	NP_055617.1	Q86YS7	C2CD5_HUMAN	C2 calcium-dependent domain containing 5	396					cellular response to insulin stimulus (GO:0032869)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|intracellular protein transmembrane transport (GO:0065002)|positive regulation of glucose transport (GO:0010828)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of vesicle fusion (GO:0031340)	cell cortex (GO:0005938)|cytoplasmic vesicle membrane (GO:0030659)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)										TATTTCTTGTCTGATTTCTGC	0.328																																						ENST00000333957.4																			0											c.(1186-1188)aGa>aAa		C2 calcium-dependent domain containing 5							258	224	236					12																	22646232		2203	4300	6503	SO:0001583	missense	9847							g.chr12:22646232C>T	AB011100	CCDS31758.1, CCDS66337.1, CCDS66338.1, CCDS66339.1, CCDS66340.1	12p12.1	2012-12-13	2012-12-13	2012-12-13	ENSG00000111731	ENSG00000111731			29062	protein-coding gene	gene with protein product	"138 kDa C2 domain-containing phosphoprotein"		"KIAA0528"	KIAA0528		21907143	Standard	XM_005253538		Approved	CDP138	uc001rfq.3	Q86YS7	OTTHUMG00000169100	ENST00000333957.4:c.1187G>A	12.37:g.22646232C>T	ENSP00000334229:p.Arg396Lys					C2CD5_ENST00000542676.1_Missense_Mutation_p.R396K|C2CD5_ENST00000536386.1_Missense_Mutation_p.R398K|C2CD5_ENST00000446597.1_Missense_Mutation_p.R396K|C2CD5_ENST00000545552.1_Missense_Mutation_p.R409K|C2CD5_ENST00000396028.2_Missense_Mutation_p.R387K|C2CD5_ENST00000544930.1_Missense_Mutation_p.R211K	p.R396K	NM_014802.1	NP_055617.1					11	1442	-								B4DJ03|B4DRN7|B7ZLL0|F5H2A1|F5H5R1|O60280|Q17RY7|Q7Z619|Q86SU3	Missense_Mutation	SNP	ENST00000333957.4	37	c.1187G>A	CCDS31758.1	.	.	.	.	.	.	.	.	.	.	C	35	5.450820	0.96205	.	.	ENSG00000111731	ENST00000333957;ENST00000446597;ENST00000536386;ENST00000396028;ENST00000542676;ENST00000545552;ENST00000544930	T;T;T;T;T;T;T	0.51817	0.69;0.69;0.69;0.69;0.69;0.69;0.69	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	T	0.70692	0.3253	M	0.78285	2.405	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;0.999;0.999;0.996;0.999	D;D;D;D;D;D	0.87578	0.998;0.996;0.995;0.996;0.99;0.991	T	0.71324	-0.4627	10	0.51188	T	0.08	-21.2605	18.0362	0.89303	0.0:1.0:0.0:0.0	.	398;396;211;398;387;396	F5H2A1;B4DRN7;F5H3N1;B7ZLL0;Q86YS7-2;Q86YS7	.;.;.;.;.;K0528_HUMAN	K	396;396;398;387;396;409;211	ENSP00000334229:R396K;ENSP00000388756:R396K;ENSP00000439392:R398K;ENSP00000379345:R387K;ENSP00000441951:R396K;ENSP00000443204:R409K;ENSP00000445288:R211K	ENSP00000334229:R396K	R	-	2	0	KIAA0528	22537499	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.685000	0.84117	2.694000	0.91930	0.585000	0.79938	AGA		0.328	C2CD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402257.1	NM_014802		4	108	0	0	0	1	0	4	108					T	22646232	C	T	22646232	3	4	325	1	0	0	0	0	1	0	0	0	8182	913	32	3	1875	3	KIAA0528	12	22646232	Missense_Mutation	SNP	C	TCGA-KK-A7AY-01A-11D-A33T-08	11868874	22646232	111205663	34	16637											
KRT3	3850	broad.mit.edu	37	chr12	53185077	53185077	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcatcagctcctggtagtcaCgtagcagccgcgccaggtca	8	8	11	14	3	4	0	4	0	0	0	5	0	5	0	3	2	3	4	3	2	2	2			TCGA-KK-A7AY-01A-11D-A33T-08	TCGA-KK-A7AY-11A-21D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80ac0a78-2ebc-488d-a0db-c2fda0b57966	258a8d92-ed5a-4028-a93f-28b61fa48dec	g.chr12:53185077C>T	ENST00000417996.2	-	7	1522	c.1448G>A	c.(1447-1449)cGt>cAt	p.R483H	KRT3_ENST00000309505.3_Missense_Mutation_p.R483H	NM_057088.2	NP_476429.2	P12035	K2C3_HUMAN	keratin 3	483	Coil 2.|Rod.				epithelial cell differentiation (GO:0030855)|intermediate filament cytoskeleton organization (GO:0045104)	extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)	p.R483H(1)		NS(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|skin(1)	23						CTGGTAGTCACGTAGCAGCCG	0.607																																						ENST00000417996.2																			1	Substitution - Missense(1)	p.R483H(1)	endometrium(1)	NS(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|skin(1)	23						c.(1447-1449)cGt>cAt		keratin 3							101	94	97					12																	53185077		2203	4300	6503	SO:0001583	missense	3850				epithelial cell differentiation|intermediate filament cytoskeleton organization	keratin filament	structural molecule activity	g.chr12:53185077C>T		CCDS44895.1	12q13.13	2013-01-16			ENSG00000186442	ENSG00000186442		"-", "Intermediate filaments type II, keratins (basic)"	6440	protein-coding gene	gene with protein product	"keratin, type II cytoskeletal 3", "cytokeratin 3"	148043				7510223, 16831889	Standard	NM_057088		Approved	CK3, K3	uc001say.3	P12035	OTTHUMG00000169799	ENST00000417996.2:c.1448G>A	12.37:g.53185077C>T	ENSP00000413479:p.Arg483His					KRT3_ENST00000309505.3_Missense_Mutation_p.R483H	p.R483H	NM_057088.2	NP_476429.2	P12035	K2C3_HUMAN			7	1522	-			483			Coil 2.|Rod.		A6NIS2|Q701L8	Missense_Mutation	SNP	ENST00000417996.2	37	c.1448G>A	CCDS44895.1	.	.	.	.	.	.	.	.	.	.	C	13.52	2.263047	0.39995	.	.	ENSG00000186442	ENST00000417996;ENST00000309505	T;T	0.77489	-1.1;-1.1	4.71	2.82	0.32997	Filament (1);	0.811911	0.10179	N	0.706066	T	0.80412	0.4618	M	0.79011	2.435	0.09310	N	0.999991	D	0.61080	0.989	P	0.51324	0.666	T	0.68926	-0.5280	10	0.72032	D	0.01	.	3.1528	0.06494	0.1844:0.4633:0.0:0.3523	.	483	P12035	K2C3_HUMAN	H	483	ENSP00000413479:R483H;ENSP00000312206:R483H	ENSP00000312206:R483H	R	-	2	0	KRT3	51471344	0.000000	0.05858	0.189000	0.23252	0.176000	0.22953	0.409000	0.21082	0.666000	0.31087	-0.258000	0.10820	CGT		0.607	KRT3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000405930.1	NM_057088		42	67	0	0	0	1	0	42	67					T	53185077	C	T	53185077	3	4	325	1	0	0	0	0	1	0	0	0	8466	536	19	1	450	1	KRT3	12	53185077	Missense_Mutation	SNP	C	TCGA-KK-A7AY-01A-11D-A33T-08	30538845	53185077	80666818	35	16638											
TPH2	121278	broad.mit.edu	37	chr12	72425419	72425419	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tggtgcaggaccttcgcagcGacttgaatacagtgtgtgat	9	11	13	8	2	0	2	0	2	0	0	1	4	0	3	1	2	3	2	1	2	2	3	rs147025898		TCGA-KK-A7AY-01A-11D-A33T-08	TCGA-KK-A7AY-11A-21D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80ac0a78-2ebc-488d-a0db-c2fda0b57966	258a8d92-ed5a-4028-a93f-28b61fa48dec	g.chr12:72425419G>A	ENST00000333850.3	+	11	1558	c.1417G>A	c.(1417-1419)Gac>Aac	p.D473N		NM_173353.3	NP_775489.2	Q8IWU9	TPH2_HUMAN	tryptophan hydroxylase 2	473					aromatic amino acid family metabolic process (GO:0009072)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to lithium ion (GO:0071285)|circadian rhythm (GO:0007623)|indolalkylamine biosynthetic process (GO:0046219)|response to activity (GO:0014823)|response to calcium ion (GO:0051592)|response to estrogen (GO:0043627)|response to glucocorticoid (GO:0051384)|response to nutrient levels (GO:0031667)|serotonin biosynthetic process (GO:0042427)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|neuron projection (GO:0043005)	amino acid binding (GO:0016597)|iron ion binding (GO:0005506)|tryptophan 5-monooxygenase activity (GO:0004510)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	41					L-Tryptophan(DB00150)	CCTTCGCAGCGACTTGAATAC	0.418													G|||	1	0.000199681	0	0	5008	,	,		19736	0		0.001	False		,,,				2504	0					ENST00000333850.3																			0				breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	41						c.(1417-1419)Gac>Aac		tryptophan hydroxylase 2	L-Tryptophan(DB00150)	G	ASN/ASP	0,4406		0,0,2203	174	168	170		1417	5.9	1	12	dbSNP_134	170	3,8597	3.0+/-9.4	0,3,4297	yes	missense	TPH2	NM_173353.3	23	0,3,6500	AA,AG,GG		0.0349,0.0,0.0231	probably-damaging	473/491	72425419	3,13003	2203	4300	6503	SO:0001583	missense	121278				aromatic amino acid family metabolic process|hormone biosynthetic process|serotonin biosynthetic process	cytosol	amino acid binding|iron ion binding|tryptophan 5-monooxygenase activity	g.chr12:72425419G>A	AY098914	CCDS31859.1	12q15	2008-02-07				ENSG00000139287	1.14.16.4		20692	protein-coding gene	gene with protein product		607478				12511643	Standard	NM_173353		Approved	NTPH, FLJ37295	uc009zrw.1	Q8IWU9		ENST00000333850.3:c.1417G>A	12.37:g.72425419G>A	ENSP00000329093:p.Asp473Asn						p.D473N	NM_173353.3	NP_775489.2	Q8IWU9	TPH2_HUMAN			11	1558	+			473					A6NGA4|Q14CB0	Missense_Mutation	SNP	ENST00000333850.3	37	c.1417G>A	CCDS31859.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	33	5.195543	0.94960	0.0	3.49E-4	ENSG00000139287	ENST00000333850	D	0.99567	-6.18	5.86	5.86	0.93980	Aromatic amino acid hydroxylase, C-terminal (3);	0.000000	0.85682	D	0.000000	D	0.99155	0.9708	L	0.61387	1.9	0.80722	D	1	P	0.51057	0.941	P	0.46850	0.529	D	0.99907	1.1183	10	0.87932	D	0	-27.6116	20.1858	0.98214	0.0:0.0:1.0:0.0	.	473	Q8IWU9	TPH2_HUMAN	N	473	ENSP00000329093:D473N	ENSP00000329093:D473N	D	+	1	0	TPH2	70711686	1.000000	0.71417	0.996000	0.52242	0.981000	0.71138	9.869000	0.99810	2.777000	0.95525	0.591000	0.81541	GAC		0.418	TPH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405234.1	NM_173353		38	94	0	0	0	1	0	38	94					A	72425419	G	A	72425419	3	1	325	1	0	0	0	0	1	0	0	0	16399	1058	37	2	1459	2	TPH2	12	72425419	Missense_Mutation	SNP	G	TCGA-KK-A7AY-01A-11D-A33T-08	19240342	72425419	61426476	36	16639											
MAB21L1	4081	broad.mit.edu	37	chr13	36050006	36050006	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagccgggcagtgagccatcGtccacgaagttgaacacccc	10	5	11	15	3	0	2	0	2	0	0	2	3	1	2	5	1	3	2	5	1	2	1			TCGA-KK-A7AY-01A-11D-A33T-08	TCGA-KK-A7AY-11A-21D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80ac0a78-2ebc-488d-a0db-c2fda0b57966	258a8d92-ed5a-4028-a93f-28b61fa48dec	g.chr13:36050006G>A	ENST00000379919.4	-	1	826	c.270C>T	c.(268-270)gaC>gaT	p.D90D	NBEA_ENST00000379939.2_Intron|NBEA_ENST00000310336.4_Intron|NBEA_ENST00000537702.1_5'Flank|NBEA_ENST00000540320.1_Intron|NBEA_ENST00000400445.3_Intron	NM_005584.4	NP_005575.1	Q13394	MB211_HUMAN	mab-21-like 1 (C. elegans)	90					anatomical structure morphogenesis (GO:0009653)|camera-type eye development (GO:0043010)|positive regulation of cell proliferation (GO:0008284)	nucleus (GO:0005634)				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	20		Breast(139;0.014)|Lung SC(185;0.051)|Prostate(109;0.202)		all cancers(112;9.63e-08)|Epithelial(112;1.37e-06)|BRCA - Breast invasive adenocarcinoma(63;0.000659)|OV - Ovarian serous cystadenocarcinoma(117;0.00372)|GBM - Glioblastoma multiforme(144;0.115)		GTGAGCCATCGTCCACGAAGT	0.577																																						ENST00000379919.4																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	20						c.(268-270)gaC>gaT		mab-21-like 1 (C. elegans)							80	80	80					13																	36050006		2203	4300	6503	SO:0001819	synonymous_variant	4081				anatomical structure morphogenesis	nucleus		g.chr13:36050006G>A	BC028170	CCDS9353.1	13q13.3	2008-02-05	2001-11-28		ENSG00000180660	ENSG00000180660			6757	protein-coding gene	gene with protein product		601280	"mab-21 (C. elegans)-like 1"			8733127	Standard	NM_005584		Approved	CAGR1		Q13394	OTTHUMG00000016723	ENST00000379919.4:c.270C>T	13.37:g.36050006G>A						NBEA_ENST00000379939.2_Intron|NBEA_ENST00000540320.1_Intron|NBEA_ENST00000400445.3_Intron|NBEA_ENST00000310336.4_Intron	p.D90D	NM_005584.4	NP_005575.1	Q13394	MB211_HUMAN		all cancers(112;9.63e-08)|Epithelial(112;1.37e-06)|BRCA - Breast invasive adenocarcinoma(63;0.000659)|OV - Ovarian serous cystadenocarcinoma(117;0.00372)|GBM - Glioblastoma multiforme(144;0.115)	1	826	-		Breast(139;0.014)|Lung SC(185;0.051)|Prostate(109;0.202)	90					Q6I9T5	Silent	SNP	ENST00000379919.4	37	c.270C>T	CCDS9353.1																																																																																				0.577	MAB21L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044459.3	NM_005584		27	49	0	0	0	1	0	27	49					A	36050006	G	A	36050006	2	1	325	1	0	0	0	0	0	0	0	1	9141	1136	40	1		1	MAB21L1	13	36050006	Silent	SNP	G	TCGA-KK-A7AY-01A-11D-A33T-08		36050006	79119872	37	16640											
OXA1L	5018	broad.mit.edu	37	chr14	23239012	23239012	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ttttccaggtacagtctttgCccgctgcctgatttttcctc	4	17	7	13	1	1	1	0	1	1	0	4	1	3	1	4	1	3	2	4	1	1	6			TCGA-KK-A7AY-01A-11D-A33T-08	TCGA-KK-A7AY-11A-21D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80ac0a78-2ebc-488d-a0db-c2fda0b57966	258a8d92-ed5a-4028-a93f-28b61fa48dec	g.chr14:23239012C>T	ENST00000604262.1	+	4	475	c.452C>T	c.(451-453)gCc>gTc	p.A151V	OXA1L_ENST00000412791.1_Missense_Mutation_p.A151V|OXA1L_ENST00000285848.5_Missense_Mutation_p.A211V|OXA1L_ENST00000358043.5_Missense_Mutation_p.A135V			Q15070	OXA1L_HUMAN	oxidase (cytochrome c) assembly 1-like	151					aerobic respiration (GO:0009060)|mitochondrial proton-transporting ATP synthase complex assembly (GO:0033615)|mitochondrial respiratory chain complex I assembly (GO:0032981)|mitochondrial respiratory chain complex I biogenesis (GO:0097031)|negative regulation of ATPase activity (GO:0032780)|negative regulation of oxidoreductase activity (GO:0051354)|oxidation-reduction process (GO:0055114)|protein complex assembly (GO:0006461)|protein insertion into membrane (GO:0051205)|protein tetramerization (GO:0051262)	integral component of mitochondrial membrane (GO:0032592)|mitochondrial membrane (GO:0031966)|mitochondrial respiratory chain (GO:0005746)|mitochondrion (GO:0005739)|protein complex (GO:0043234)	mitochondrial ribosome binding (GO:0097177)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(5)|skin(2)	19	all_cancers(95;8.44e-05)			GBM - Glioblastoma multiforme(265;0.0096)		ACAGTCTTTGCCCGCTGCCTG	0.478																																						ENST00000358043.5																			0				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(5)|skin(2)	19						c.(403-405)gCc>gTc		oxidase (cytochrome c) assembly 1-like							579	563	568					14																	23239012		2203	4300	6503	SO:0001583	missense	5018				aerobic respiration|mitochondrial proton-transporting ATP synthase complex assembly|mitochondrial respiratory chain complex I assembly|negative regulation of ATPase activity|negative regulation of oxidoreductase activity|protein insertion into membrane|protein tetramerization	integral to mitochondrial membrane|mitochondrial respiratory chain|protein complex	protein homodimerization activity|ribosome binding	g.chr14:23239012C>T		CCDS9573.1	14q11.2	2009-05-26			ENSG00000155463	ENSG00000155463			8526	protein-coding gene	gene with protein product		601066				8586451, 19349278	Standard	NM_005015		Approved	MGC133129, OXA1	uc001wgn.2	Q15070	OTTHUMG00000028691	ENST00000604262.1:c.452C>T	14.37:g.23239012C>T	ENSP00000474623:p.Ala151Val					OXA1L_ENST00000285848.5_Missense_Mutation_p.A211V|OXA1L_ENST00000604262.1_Missense_Mutation_p.A151V|OXA1L_ENST00000412791.1_Missense_Mutation_p.A151V	p.A135V			Q15070	OXA1L_HUMAN		GBM - Glioblastoma multiforme(265;0.0096)	4	722	+	all_cancers(95;8.44e-05)		151					B4DPA2	Missense_Mutation	SNP	ENST00000604262.1	37	c.404C>T		.	.	.	.	.	.	.	.	.	.	C	10.27	1.303862	0.23736	.	.	ENSG00000155463	ENST00000285848;ENST00000431881;ENST00000412791;ENST00000358043	T;T;T	0.26518	1.73;1.78;1.78	5.99	5.1	0.69264	.	0.000000	0.85682	D	0.000000	T	0.24774	0.0601	N	0.10629	0.01	0.80722	D	1	P;B;D	0.69078	0.926;0.246;0.997	P;B;D	0.69307	0.762;0.262;0.963	T	0.06058	-1.0848	10	0.02654	T	1	-8.7499	14.367	0.66812	0.0:0.9281:0.0:0.0719	.	151;151;211	E7EVY0;Q15070;Q2M1J6	.;OXA1L_HUMAN;.	V	211;20;151;135	ENSP00000285848:A211V;ENSP00000387601:A151V;ENSP00000350740:A135V	ENSP00000285848:A211V	A	+	2	0	OXA1L	22308852	1.000000	0.71417	1.000000	0.80357	0.923000	0.55619	4.694000	0.61760	1.540000	0.49301	0.655000	0.94253	GCC		0.478	OXA1L-012	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000468876.1	NM_005015		5	342	0	0	0	1	0	5	342					T	23239012	C	T	23239012	3	4	325	1	0	0	0	0	1	0	0	0	11328	739	26	3	646	3	OXA1L	14	23239012	Missense_Mutation	SNP	C	TCGA-KK-A7AY-01A-11D-A33T-08		23239012	84110528	38	16641											
FMN1	342184	broad.mit.edu	37	chr15	33261122	33261123	+	In_Frame_Ins	INS	-	-	CAA																															ggagttaggaagtgggggtgINSggggtgggggtggtggaggt																										TCGA-KK-A7AY-01A-11D-A33T-08	TCGA-KK-A7AY-11A-21D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80ac0a78-2ebc-488d-a0db-c2fda0b57966	258a8d92-ed5a-4028-a93f-28b61fa48dec	g.chr15:33261122_33261123insCAA	ENST00000559047.1	-	5	2778_2779	c.2779_2780insTTG	c.(2779-2781)cca>cTTGca	p.927_927P>LA	SNORD77_ENST00000391113.1_RNA|FMN1_ENST00000334528.9_In_Frame_Ins_p.704_704P>LA|FMN1_ENST00000561249.1_In_Frame_Ins_p.829_829P>LA			Q68DA7	FMN1_HUMAN	formin 1	927	FH1.|Pro-rich.				actin nucleation (GO:0045010)	actin filament (GO:0005884)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|upper_aerodigestive_tract(3)	29		all_lung(180;1.14e-07)		all cancers(64;3.05e-15)|Epithelial(43;1.67e-10)|GBM - Glioblastoma multiforme(186;4.95e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0262)		AAgtgggggtgggggtgggggt	0.673																																						ENST00000334528.9																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|upper_aerodigestive_tract(3)	29						c.(2110-2112)acc>TTGacc		formin 1																																				SO:0001652	inframe_insertion	342184				actin cytoskeleton organization	actin cytoskeleton|adherens junction|cytoplasm|nucleus	actin binding	g.chr15:33261122_33261123insCAA	AH002864	CCDS45209.1, CCDS61581.1, CCDS61582.1	15q13.3	2013-06-13	2005-01-20	2005-01-22	ENSG00000248905	ENSG00000248905			3768	protein-coding gene	gene with protein product	"limb deformity protein"	136535	"formin (limb deformity)"	LD, FMN		1673046	Standard	NM_001277313		Approved	DKFZP686C2281, FLJ45135, MGC125288, MGC125289	uc031qrh.1	Q68DA7	OTTHUMG00000172201	ENST00000559047.1:c.2779_2780insTTG	15.37:g.33261122_33261123insCAA	ENSP00000454047:p.Pro927delinsLeuAla					FMN1_ENST00000561249.1_In_Frame_Ins_p.828_829insL|FMN1_ENST00000559047.1_In_Frame_Ins_p.926_927insL	p.703_704insL	NM_001103184.2	NP_001096654.1	Q68DA7	FMN1_HUMAN		all cancers(64;3.05e-15)|Epithelial(43;1.67e-10)|GBM - Glioblastoma multiforme(186;4.95e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0262)	4	2109_2110	-		all_lung(180;1.14e-07)	926			Mediates interaction with alpha-catenin (By similarity).		Q3B7I6|Q3ZAR4|Q6ZSY1	In_Frame_Ins	INS	ENST00000559047.1	37	c.2110_2111insTTG																																																																																					0.673	FMN1-005	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000417414.1	NM_001103184		2	4						2	4	---	---	---	---	CAA	33261123	-	CAA	33261122	7	5	325	1	0	1	1	0	0	0	0	0	5949	1348	47	0	1535	0	FMN1	15	33261122	In_Frame_Ins	INS	-	TCGA-KK-A7AY-01A-11D-A33T-08		33261122	69270270	39	16642											
TTBK2	146057	broad.mit.edu	37	chr15	43109261	43109261	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtgcgttgattgatgcataaCgaactgtccctcgaaaacct	11	11	9	10	3	0	2	0	2	0	0	2	4	1	2	2	0	5	2	2	0	4	3			TCGA-KK-A7AY-01A-11D-A33T-08	TCGA-KK-A7AY-11A-21D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80ac0a78-2ebc-488d-a0db-c2fda0b57966	258a8d92-ed5a-4028-a93f-28b61fa48dec	g.chr15:43109261C>A	ENST00000267890.6	-	7	680	c.572G>T	c.(571-573)cGt>cTt	p.R191L	TTBK2_ENST00000567840.1_Missense_Mutation_p.R191L|TTBK2_ENST00000567274.1_Missense_Mutation_p.R156L	NM_173500.3	NP_775771.3	Q6IQ55	TTBK2_HUMAN	tau tubulin kinase 2	191	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell death (GO:0008219)|cilium assembly (GO:0042384)|peptidyl-serine phosphorylation (GO:0018105)|smoothened signaling pathway (GO:0007224)	centriole (GO:0005814)|ciliary basal body (GO:0036064)|ciliary transition zone (GO:0035869)|cytosol (GO:0005829)|extracellular space (GO:0005615)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	43		all_cancers(109;6.11e-16)|all_epithelial(112;5.5e-14)|Lung NSC(122;1.76e-08)|all_lung(180;6.04e-08)|Melanoma(134;0.0179)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;3.23e-07)		TGATGCATAACGAACTGTCCC	0.398																																						ENST00000267890.6																			0				NS(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	43						c.(571-573)cGt>cTt		tau tubulin kinase 2							73	68	70					15																	43109261		1969	4139	6108	SO:0001583	missense	146057				cell death		ATP binding|protein serine/threonine kinase activity	g.chr15:43109261C>A	AB020654	CCDS42029.1	15q15.2	2014-01-21			ENSG00000128881	ENSG00000128881			19141	protein-coding gene	gene with protein product		611695	"spinocerebellar ataxia 11"	SCA11		10048485	Standard	NM_173500		Approved	KIAA0847	uc001zqo.2	Q6IQ55	OTTHUMG00000175802	ENST00000267890.6:c.572G>T	15.37:g.43109261C>A	ENSP00000267890:p.Arg191Leu					TTBK2_ENST00000567274.1_Missense_Mutation_p.R156L|TTBK2_ENST00000567840.1_Missense_Mutation_p.R191L	p.R191L	NM_173500.3	NP_775771.3	Q6IQ55	TTBK2_HUMAN		GBM - Glioblastoma multiforme(94;3.23e-07)	7	680	-		all_cancers(109;6.11e-16)|all_epithelial(112;5.5e-14)|Lung NSC(122;1.76e-08)|all_lung(180;6.04e-08)|Melanoma(134;0.0179)|Colorectal(260;0.216)	191			Protein kinase.		O94932|Q6ZN52|Q8IVV1	Missense_Mutation	SNP	ENST00000267890.6	37	c.572G>T	CCDS42029.1	.	.	.	.	.	.	.	.	.	.	C	36	5.857878	0.97036	.	.	ENSG00000128881	ENST00000267890;ENST00000399479;ENST00000263802	T	0.66638	-0.22	6.06	6.06	0.98353	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.82683	0.5090	M	0.71206	2.165	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;0.995	D;D;D;D	0.97110	1.0;0.998;0.996;0.982	T	0.82697	-0.0329	10	0.87932	D	0	.	20.6397	0.99537	0.0:1.0:0.0:0.0	.	171;122;191;191	Q8IWY7;Q6IQ55-2;Q6IQ55-3;Q6IQ55	.;.;.;TTBK2_HUMAN	L	191;121;171	ENSP00000267890:R191L	ENSP00000263802:R171L	R	-	2	0	TTBK2	40896553	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.578000	0.82498	2.880000	0.98712	0.650000	0.86243	CGT		0.398	TTBK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000431106.2	NM_173500		13	14	1	0	0.00316338	1	0.00316338	13	14					A	43109261	C	A	43109261	3	1	325	1	0	0	0	0	1	0	0	0	16674	536	19	5	3198	5	TTBK2	15	43109261	Missense_Mutation	SNP	C	TCGA-KK-A7AY-01A-11D-A33T-08	9848139	43109261	59422131	40	16643											
GOLGA6B	55889	broad.mit.edu	37	chr15	72954612	72954612	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctaagcccccatccctggcGcccccagcagtgacctctgt	6	7	9	19	1	1	1	0	1	1	0	2	1	2	1	6	1	2	2	6	1	1	1	rs201791007		TCGA-KK-A7AY-01A-11D-A33T-08	TCGA-KK-A7AY-11A-21D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80ac0a78-2ebc-488d-a0db-c2fda0b57966	258a8d92-ed5a-4028-a93f-28b61fa48dec	g.chr15:72954612G>A	ENST00000421285.3	+	11	867	c.867G>A	c.(865-867)gcG>gcA	p.A289A	RN7SL853P_ENST00000477951.2_RNA	NM_018652.4	NP_061122.4	A6NDN3	GOG6B_HUMAN	golgin A6 family, member B	289						Golgi apparatus (GO:0005794)		p.A289A(1)		NS(1)|breast(1)|endometrium(1)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	16						CATCCCTGGCGCCCCCAGCAG	0.537																																						ENST00000421285.3																			1	Substitution - coding silent(1)	p.A289A(1)	upper_aerodigestive_tract(1)	NS(1)|breast(1)|endometrium(1)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	16						c.(865-867)gcG>gcA		golgin A6 family, member B							32	31	32					15																	72954612		1846	3747	5593	SO:0001819	synonymous_variant	55889							g.chr15:72954612G>A		CCDS10245.2	15q24.1	2011-10-25	2010-02-12		ENSG00000215186	ENSG00000215186			32205	protein-coding gene	gene with protein product			"golgi autoantigen, golgin subfamily a, 6B"				Standard	XM_006720604		Approved		uc010uks.1	A6NDN3	OTTHUMG00000133511	ENST00000421285.3:c.867G>A	15.37:g.72954612G>A							p.A289A	NM_018652.4	NP_061122.4	A6NDN3	GOG6B_HUMAN			11	867	+			289					A8MYY7	Silent	SNP	ENST00000421285.3	37	c.867G>A	CCDS10245.2																																																																																				0.537	GOLGA6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257474.4	NM_018652		4	45	0	0	0	1	0	4	45					A	72954612	G	A	72954612	2	1	325	1	0	0	0	0	0	0	0	1	6558	1074	38	1		1	GOLGA6B	15	72954612	Silent	SNP	G	TCGA-KK-A7AY-01A-11D-A33T-08	29845351	72954612	29576780	41	16644											
CES7	221223	broad.mit.edu	37	chr16	55907858	55907858	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaggggactccgaggaacacGttcacaggcacagggcttcc	11	5	13	12	2	1	0	1	0	0	0	3	3	3	2	2	5	1	3	2	5	2	2			TCGA-KK-A7AY-01A-11D-A33T-08	TCGA-KK-A7AY-11A-21D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80ac0a78-2ebc-488d-a0db-c2fda0b57966	258a8d92-ed5a-4028-a93f-28b61fa48dec	g.chr16:55907858G>A	ENST00000290567.9	-	2	286	c.165C>T	c.(163-165)aaC>aaT	p.N55N	CES5A_ENST00000520435.1_Silent_p.N55N|CES5A_ENST00000521992.1_Silent_p.N84N|CES5A_ENST00000541580.1_Intron|CES5A_ENST00000518005.1_De_novo_Start_InFrame|CES5A_ENST00000319165.9_Silent_p.N55N	NM_001143685.1	NP_001137157.1	Q6NT32	EST5A_HUMAN	carboxylesterase 5A	55						extracellular region (GO:0005576)	carboxylic ester hydrolase activity (GO:0052689)			breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(13)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	39						CGAGGAACACGTTCACAGGCA	0.612																																						ENST00000518005.1																			0				breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(13)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	39								carboxylesterase 5A							86	74	78					16																	55907858		2198	4300	6498	SO:0001819	synonymous_variant	221223					extracellular region	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity	g.chr16:55907858G>A	AK090997	CCDS10755.1, CCDS45490.1, CCDS54012.1	16q13	2010-10-12	2010-10-12	2010-10-12	ENSG00000159398	ENSG00000159398	3.1.1.1	"Carboxylesterases"	26459	protein-coding gene	gene with protein product			"carboxylesterase 7"	CES7		20931200	Standard	NM_145024		Approved	FLJ31547, CES4C1, CES5, CAUXIN	uc021tir.1	Q6NT32	OTTHUMG00000133236	ENST00000290567.9:c.165C>T	16.37:g.55907858G>A						CES5A_ENST00000290567.9_Silent_p.N55N|CES5A_ENST00000541580.1_Intron|CES5A_ENST00000521992.1_Silent_p.N84N|CES5A_ENST00000520435.1_Silent_p.N55N|CES5A_ENST00000319165.9_Silent_p.N55N				Q6NT32	EST5A_HUMAN			0	229	-								B7Z252|B7ZLB6|Q8NBC8|Q96DN9	Translation_Start_Site	SNP	ENST00000290567.9	37		CCDS45490.1																																																																																				0.612	CES5A-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000256975.3	NM_145024		6	10	0	0	0	1	0	6	10					A	55907858	G	A	55907858	2	1	325	1	0	0	0	0	0	0	0	1	3272	1136	40	1		1	CES7	16	55907858	Silent	SNP	G	TCGA-KK-A7AY-01A-11D-A33T-08		55907858	34446895	42	16645											
PRPF8	10594	broad.mit.edu	37	chr17	1563231	1563231	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agttcatcttatatgactttCggggatggattgtctccttt	7	18	9	7	1	3	1	1	1	2	0	5	3	3	3	1	3	0	1	1	3	2	6			TCGA-KK-A7AY-01A-11D-A33T-08	TCGA-KK-A7AY-11A-21D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80ac0a78-2ebc-488d-a0db-c2fda0b57966	258a8d92-ed5a-4028-a93f-28b61fa48dec	g.chr17:1563231C>T	ENST00000572621.1	-	30	5115	c.4850G>A	c.(4849-4851)cGa>cAa	p.R1617Q	PRPF8_ENST00000304992.6_Missense_Mutation_p.R1617Q			Q6P2Q9	PRP8_HUMAN	pre-mRNA processing factor 8	1617	Restriction endonuclease homology domain.				gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|U5 snRNP (GO:0005682)	poly(A) RNA binding (GO:0044822)|U5 snRNA binding (GO:0030623)|U6 snRNA binding (GO:0017070)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77				UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)		ATATGACTTTCGGGGATGGAT	0.443																																						ENST00000572621.1																			0				NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77						c.(4849-4851)cGa>cAa		pre-mRNA processing factor 8							174	143	153					17																	1563231		2203	4300	6503	SO:0001583	missense	10594					catalytic step 2 spliceosome|nuclear speck|U5 snRNP	protein binding|RNA binding	g.chr17:1563231C>T	AB007510	CCDS11010.1	17p13.3	2013-07-16	2013-06-10		ENSG00000174231	ENSG00000174231			17340	protein-coding gene	gene with protein product		607300	"PRP8 pre-mRNA processing factor 8 homolog (yeast)", "PRP8 pre-mRNA processing factor 8 homolog (S. cerevisiae)"	RP13		11468273, 10411133	Standard	NM_006445		Approved	PRPC8, Prp8, hPrp8, SNRNP220	uc002fte.3	Q6P2Q9	OTTHUMG00000090553	ENST00000572621.1:c.4850G>A	17.37:g.1563231C>T	ENSP00000460348:p.Arg1617Gln					PRPF8_ENST00000304992.6_Missense_Mutation_p.R1617Q	p.R1617Q			Q6P2Q9	PRP8_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)	30	5115	-			1617					O14547|O75965	Missense_Mutation	SNP	ENST00000572621.1	37	c.4850G>A	CCDS11010.1	.	.	.	.	.	.	.	.	.	.	c	36	5.719413	0.96839	.	.	ENSG00000174231	ENST00000304992;ENST00000540177	D	0.82255	-1.59	6.06	6.06	0.98353	.	0.000000	0.85682	D	0.000000	D	0.92912	0.7745	M	0.89478	3.035	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.91623	0.5312	10	0.41790	T	0.15	-2.5008	20.6208	0.99490	0.0:1.0:0.0:0.0	.	1617	Q6P2Q9	PRP8_HUMAN	Q	1617;144	ENSP00000304350:R1617Q	ENSP00000304350:R1617Q	R	-	2	0	PRPF8	1509981	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.738000	0.84966	2.882000	0.98803	0.655000	0.94253	CGA		0.443	PRPF8-002	NOVEL	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438412.2			24	41	0	0	0	1	0	24	41					T	1563231	C	T	1563231	3	4	325	1	0	0	0	0	1	0	0	0	12575	884	31	2	2209	2	PRPF8	17	1563231	Missense_Mutation	SNP	C	TCGA-KK-A7AY-01A-11D-A33T-08		1563231	79631979	43	16646											
SPAG9	9043	broad.mit.edu	37	chr17	49057179	49057179	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agtgtgtgcatgatagagacGgagcgtagaatccaagcgaa	14	7	14	6	3	0	3	0	1	0	2	1	6	1	4	1	1	3	2	1	1	5	2			TCGA-KK-A7AY-01A-11D-A33T-08	TCGA-KK-A7AY-11A-21D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80ac0a78-2ebc-488d-a0db-c2fda0b57966	258a8d92-ed5a-4028-a93f-28b61fa48dec	g.chr17:49057179G>C	ENST00000262013.7	-	26	3545	c.3337C>G	c.(3337-3339)Cgt>Ggt	p.R1113G	SPAG9_ENST00000357122.4_Missense_Mutation_p.R1099G|SPAG9_ENST00000505279.1_Missense_Mutation_p.R1103G|SPAG9_ENST00000510283.1_Missense_Mutation_p.R956G	NM_001130528.2	NP_001124000.1	O60271	JIP4_HUMAN	sperm associated antigen 9	1113					activation of JUN kinase activity (GO:0007257)|muscle cell differentiation (GO:0042692)|negative regulation of protein homodimerization activity (GO:0090074)|positive regulation of cell migration (GO:0030335)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of neuron differentiation (GO:0045666)|protein homooligomerization (GO:0051260)|retrograde transport, endosome to Golgi (GO:0042147)|spermatogenesis (GO:0007283)|striated muscle cell differentiation (GO:0051146)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)				NS(1)|breast(3)|endometrium(3)|kidney(4)|large_intestine(8)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37			BRCA - Breast invasive adenocarcinoma(22;4.24e-07)			TGATAGAGACGGAGCGTAGAA	0.478																																						ENST00000262013.7																			0				NS(1)|breast(3)|endometrium(3)|kidney(4)|large_intestine(8)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37						c.(3337-3339)Cgt>Ggt		sperm associated antigen 9							227	184	198					17																	49057179		2203	4300	6503	SO:0001583	missense	9043				positive regulation of cell migration|positive regulation of muscle cell differentiation|retrograde transport, endosome to Golgi|spermatogenesis	acrosomal vesicle|integral to membrane|perinuclear region of cytoplasm		g.chr17:49057179G>C	AB011088	CCDS11577.1, CCDS45740.1, CCDS58577.1, CCDS58578.1	17q21.33	2013-09-23			ENSG00000008294	ENSG00000008294			14524	protein-coding gene	gene with protein product	"sperm surface protein", "JNK/SAPK-associated protein", "JNK interacting protein", "sperm specific protein", "c-Jun NH2-terminal kinase-associated leucine zipper protein", "Max-binding protein", "JNK-associated leucine-zipper protein", "HLC-4 protein", "lung cancer oncogene 4", "proliferation-inducing gene 6", "cancer/testis antigen 89"	605430				9480848, 11106729	Standard	NM_003971		Approved	HSS, SYD1, KIAA0516, MGC14967, MGC74461, MGC117291, JLP, PHET, HLC4, PIG6, FLJ13450, FLJ14006, FLJ26141, FLJ34602, CT89	uc002itc.3	O60271	OTTHUMG00000162316	ENST00000262013.7:c.3337C>G	17.37:g.49057179G>C	ENSP00000262013:p.Arg1113Gly					SPAG9_ENST00000510283.1_Missense_Mutation_p.R956G|SPAG9_ENST00000357122.4_Missense_Mutation_p.R1099G|SPAG9_ENST00000505279.1_Missense_Mutation_p.R1103G	p.R1113G	NM_001130528.2	NP_001124000.1	O60271	JIP4_HUMAN	BRCA - Breast invasive adenocarcinoma(22;4.24e-07)		26	3545	-			1113					A6H8U5|A8MSX0|B4DHH2|O60905|Q3KQU8|Q3MKM7|Q86WC7|Q86WC8|Q8IZX7|Q96II0|Q9H811	Missense_Mutation	SNP	ENST00000262013.7	37	c.3337C>G	CCDS45740.1	.	.	.	.	.	.	.	.	.	.	G	27.1	4.799101	0.90538	.	.	ENSG00000008294	ENST00000262013;ENST00000376407;ENST00000357804;ENST00000510283;ENST00000505279;ENST00000357122;ENST00000535445	T;T;T;T	0.32023	1.47;1.47;1.47;1.47	5.74	5.74	0.90152	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.68476	0.3005	M	0.93197	3.39	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	T	0.76621	-0.2892	10	0.87932	D	0	-12.3769	19.9144	0.97043	0.0:0.0:1.0:0.0	.	1103;1113;1099;956	O60271-2;O60271;O60271-4;E7ENU2	.;JIP4_HUMAN;.;.	G	1113;870;860;956;1103;1099;711	ENSP00000262013:R1113G;ENSP00000423165:R956G;ENSP00000426900:R1103G;ENSP00000349636:R1099G	ENSP00000262013:R1113G	R	-	1	0	SPAG9	46412178	1.000000	0.71417	0.996000	0.52242	0.703000	0.40648	3.522000	0.53480	2.716000	0.92895	0.491000	0.48974	CGT		0.478	SPAG9-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000368543.2	NM_003971		29	55	0	0	0	1	0	29	55					C	49057179	G	C	49057179	3	2	325	1	0	0	0	0	1	0	0	0	14985	1116	39	5	648	5	SPAG9	17	49057179	Missense_Mutation	SNP	G	TCGA-KK-A7AY-01A-11D-A33T-08	47493948	49057179	32138031	44	16647											
SMAD2	4087	broad.mit.edu	37	chr18	45368212	45368215	+	Frame_Shift_Del	DEL	AGCA	AGCA	-																															gaagctttatgacatgcttgAgcaacgcactgaaggggatc																										TCGA-KK-A7AY-01A-11D-A33T-08	TCGA-KK-A7AY-11A-21D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80ac0a78-2ebc-488d-a0db-c2fda0b57966	258a8d92-ed5a-4028-a93f-28b61fa48dec	g.chr18:45368212_45368215delAGCA	ENST00000402690.2	-	11	1781_1784	c.1387_1390delTGCT	c.(1387-1392)tgctcafs	p.CS463fs	SMAD2_ENST00000356825.4_Frame_Shift_Del_p.CS433fs|SMAD2_ENST00000586040.1_Frame_Shift_Del_p.CS433fs|SMAD2_ENST00000262160.6_Frame_Shift_Del_p.CS463fs	NM_001003652.3	NP_001003652.1	Q15796	SMAD2_HUMAN	SMAD family member 2	463	MH2. {ECO:0000255|PROSITE- ProRule:PRU00439}.				activin receptor signaling pathway (GO:0032924)|anterior/posterior pattern specification (GO:0009952)|cell fate commitment (GO:0045165)|common-partner SMAD protein phosphorylation (GO:0007182)|developmental growth (GO:0048589)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic foregut morphogenesis (GO:0048617)|endoderm formation (GO:0001706)|gastrulation (GO:0007369)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|insulin secretion (GO:0030073)|intracellular signal transduction (GO:0035556)|lung development (GO:0030324)|mesoderm formation (GO:0001707)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|nodal signaling pathway (GO:0038092)|organ growth (GO:0035265)|palate development (GO:0060021)|pancreas development (GO:0031016)|paraxial mesoderm morphogenesis (GO:0048340)|pericardium development (GO:0060039)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of nodal signaling pathway involved in determination of lateral mesoderm left/right asymmetry (GO:1900224)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|post-embryonic development (GO:0009791)|primary miRNA processing (GO:0031053)|regulation of binding (GO:0051098)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|response to cholesterol (GO:0070723)|response to glucose (GO:0009749)|signal transduction involved in regulation of gene expression (GO:0023019)|SMAD protein complex assembly (GO:0007183)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ureteric bud development (GO:0001657)|zygotic specification of dorsal/ventral axis (GO:0007352)	activin responsive factor complex (GO:0032444)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMAD protein complex (GO:0071141)|SMAD2-SMAD3 protein complex (GO:0071144)|transcription factor complex (GO:0005667)	activating transcription factor binding (GO:0033613)|chromatin binding (GO:0003682)|co-SMAD binding (GO:0070410)|double-stranded DNA binding (GO:0003690)|enhancer binding (GO:0035326)|I-SMAD binding (GO:0070411)|metal ion binding (GO:0046872)|phosphatase binding (GO:0019902)|R-SMAD binding (GO:0070412)|sequence-specific DNA binding transcription factor activity (GO:0003700)|SMAD binding (GO:0046332)|transcription factor binding (GO:0008134)|transforming growth factor beta receptor binding (GO:0005160)|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity (GO:0030618)|type I transforming growth factor beta receptor binding (GO:0034713)|ubiquitin protein ligase binding (GO:0031625)	p.R462fs*>4(1)		breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(21)|liver(1)|lung(8)|prostate(2)|urinary_tract(1)	43						GACATGCTTGAGCAACGCACTGAA	0.431																																						ENST00000402690.2																			1	Deletion - Frameshift(1)	p.R462fs*>4(1)	large_intestine(1)	breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(21)|liver(1)|lung(8)|prostate(2)|urinary_tract(1)	43						c.(1387-1392)cafs		SMAD family member 2																																				SO:0001589	frameshift_variant	4087				anterior/posterior pattern formation|cell fate commitment|common-partner SMAD protein phosphorylation|intracellular signal transduction|mesoderm formation|negative regulation of transcription, DNA-dependent|palate development|paraxial mesoderm morphogenesis|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription from RNA polymerase II promoter|primary miRNA processing|regulation of binding|regulation of transforming growth factor beta receptor signaling pathway|response to cholesterol|SMAD protein complex assembly|transforming growth factor beta receptor signaling pathway|zygotic specification of dorsal/ventral axis	activin responsive factor complex|cytosol	activating transcription factor binding|co-SMAD binding|double-stranded DNA binding|I-SMAD binding|R-SMAD binding|sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity|type I transforming growth factor beta receptor binding|ubiquitin protein ligase binding	g.chr18:45368212_45368215delAGCA	U65019	CCDS11934.1	18q21	2006-11-06	2006-11-06	2004-05-26	ENSG00000175387	ENSG00000175387		"SMADs"	6768	protein-coding gene	gene with protein product		601366	"MAD, mothers against decapentaplegic homolog 2 (Drosophila)", "SMAD, mothers against DPP homolog 2 (Drosophila)"	MADH2		8752209, 8673135	Standard	NM_001003652		Approved	MADR2, JV18-1	uc002lcz.4	Q15796	OTTHUMG00000132652	ENST00000402690.2:c.1387_1390delTGCT	18.37:g.45368212_45368215delAGCA	ENSP00000384449:p.Cys463fs					SMAD2_ENST00000586040.1_Frame_Shift_Del_p.CS433fs|SMAD2_ENST00000262160.6_Frame_Shift_Del_p.CS463fs|SMAD2_ENST00000356825.4_Frame_Shift_Del_p.CS433fs	p.CS463fs	NM_001003652.3	NP_001003652.1	Q15796	SMAD2_HUMAN			11	1781_1784	-			463			MH2.			Frame_Shift_Del	DEL	ENST00000402690.2	37	c.1387_1390delTGCT	CCDS11934.1																																																																																				0.431	SMAD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450571.1	NM_005901		14	45						14	45	---	---	---	---	-	45368215	AGCA	-	45368212	7	5	325	1	0	1	0	1	0	0	0	0	14758	304	11	0	17	0	SMAD2	18	45368212	Frame_Shift_Del	DEL	AGCA	TCGA-KK-A7AY-01A-11D-A33T-08		45368212	32709036	45	16648											
C19orf35	374872	broad.mit.edu	37	chr19	2278617	2278617	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtgccaggcgtcctcgtgcGcgcgcaccacgcggtaatac	6	7	13	15	7	0	0	0	0	0	0	2	0	1	0	3	2	3	2	3	2	2	2	rs149444944	byFrequency	TCGA-KK-A7AY-01A-11D-A33T-08	TCGA-KK-A7AY-11A-21D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80ac0a78-2ebc-488d-a0db-c2fda0b57966	258a8d92-ed5a-4028-a93f-28b61fa48dec	g.chr19:2278617G>A	ENST00000342063.3	-	3	671	c.578C>T	c.(577-579)gCg>gTg	p.A193V		NM_198532.2	NP_940934.1	Q6ZS72	CS035_HUMAN	chromosome 19 open reading frame 35	193										large_intestine(1)|lung(5)|pancreas(1)|prostate(1)	8				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GTCCTCGTGCGCGCGCACCAC	0.692													G|||	3	0.000599042	0.0023	0	5008	,	,		13931	0		0	False		,,,				2504	0					ENST00000342063.3																			0				large_intestine(1)|lung(5)|pancreas(1)|prostate(1)	8						c.(577-579)gCg>gTg		chromosome 19 open reading frame 35		G	VAL/ALA	4,4386		0,4,2191	27	28	28		578	-0.2	0	19	dbSNP_134	28	0,8580		0,0,4290	yes	missense	C19orf35	NM_198532.2	64	0,4,6481	AA,AG,GG		0.0,0.0911,0.0308	benign	193/474	2278617	4,12966	2195	4290	6485	SO:0001583	missense	374872							g.chr19:2278617G>A	AK127680	CCDS12087.1	19p13.3	2012-10-26			ENSG00000188305	ENSG00000188305			24793	protein-coding gene	gene with protein product							Standard	NM_198532		Approved	FLJ45778	uc002lvn.2	Q6ZS72	OTTHUMG00000178460	ENST00000342063.3:c.578C>T	19.37:g.2278617G>A	ENSP00000345102:p.Ala193Val						p.A193V	NM_198532.2	NP_940934.1	Q6ZS72	CS035_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	3	671	-			193						Missense_Mutation	SNP	ENST00000342063.3	37	c.578C>T	CCDS12087.1	.	.	.	.	.	.	.	.	.	.	G	0.971	-0.700047	0.03279	9.11E-4	0.0	ENSG00000188305	ENST00000342063	T	0.15952	2.38	4.37	-0.209	0.13180	.	.	.	.	.	T	0.05090	0.0136	N	0.03948	-0.315	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.41770	-0.9490	9	0.06236	T	0.91	.	4.4486	0.11609	0.4209:0.1883:0.3907:0.0	.	193	Q6ZS72	CS035_HUMAN	V	193	ENSP00000345102:A193V	ENSP00000345102:A193V	A	-	2	0	C19orf35	2229617	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.182000	0.09726	-0.171000	0.10797	-0.522000	0.04353	GCG		0.692	C19orf35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442080.1	NM_198532		7	23	0	0	0	1	0	7	23					A	2278617	G	A	2278617	3	1	325	1	0	0	0	0	1	0	0	0	1920	1087	38	1	851	1	C19orf35	19	2278617	Missense_Mutation	SNP	G	TCGA-KK-A7AY-01A-11D-A33T-08		2278617	56850366	46	16649											
FEM1A	55527	broad.mit.edu	37	chr19	4792690	4792690	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gggggctccgtgctgcagctCctccccagaggaaccactga	7	6	13	15	1	0	2	0	1	0	1	3	3	3	3	5	3	4	4	5	3	1	0			TCGA-KK-A7AY-01A-11D-A33T-08	TCGA-KK-A7AY-11A-21D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80ac0a78-2ebc-488d-a0db-c2fda0b57966	258a8d92-ed5a-4028-a93f-28b61fa48dec	g.chr19:4792690C>A	ENST00000269856.3	+	1	963	c.824C>A	c.(823-825)tCc>tAc	p.S275Y	AC005523.2_ENST00000596170.1_RNA|AC005523.3_ENST00000598782.1_lincRNA|AC005523.2_ENST00000601192.1_RNA	NM_018708.2	NP_061178.1	Q9BSK4	FEM1A_HUMAN	fem-1 homolog a (C. elegans)	275					negative regulation of inflammatory response (GO:0050728)|regulation of ubiquitin-protein transferase activity (GO:0051438)	cytoplasm (GO:0005737)	EP4 subtype prostaglandin E2 receptor binding (GO:0031867)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	17		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0139)		TGCTGCAGCTCCTCCCCAGAG	0.647																																						ENST00000269856.3																			0				breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	17						c.(823-825)tCc>tAc		fem-1 homolog a (C. elegans)							37	41	40					19																	4792690		2203	4300	6503	SO:0001583	missense	55527				regulation of ubiquitin-protein ligase activity	cytoplasm	binding|ubiquitin-protein ligase activity	g.chr19:4792690C>A	BC004988	CCDS12135.1	19p13.3	2013-01-10	2006-11-08		ENSG00000141965	ENSG00000141965		"Ankyrin repeat domain containing"	16934	protein-coding gene	gene with protein product		613538				11441184	Standard	NM_018708		Approved		uc002mbf.3	Q9BSK4		ENST00000269856.3:c.824C>A	19.37:g.4792690C>A	ENSP00000269856:p.Ser275Tyr					AC005523.2_ENST00000601192.1_RNA	p.S275Y	NM_018708.2	NP_061178.1	Q9BSK4	FEM1A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0139)	1	963	+		Hepatocellular(1079;0.137)	275					B2RDI3|Q711P8|Q9NPN7|Q9NPW8	Missense_Mutation	SNP	ENST00000269856.3	37	c.824C>A	CCDS12135.1	.	.	.	.	.	.	.	.	.	.	C	3.244	-0.154827	0.06544	.	.	ENSG00000141965	ENST00000269856	T	0.68479	-0.33	4.19	-0.11	0.13580	.	9.218410	0.02007	U	0.046716	T	0.45856	0.1363	N	0.08118	0	0.09310	N	1	B	0.16802	0.019	B	0.14023	0.01	T	0.43196	-0.9406	10	0.87932	D	0	.	3.4982	0.07662	0.2177:0.3217:0.3678:0.0929	.	275	Q9BSK4	FEM1A_HUMAN	Y	275	ENSP00000269856:S275Y	ENSP00000269856:S275Y	S	+	2	0	FEM1A	4743690	0.000000	0.05858	0.000000	0.03702	0.375000	0.29983	0.662000	0.25038	0.215000	0.20761	0.491000	0.48974	TCC		0.647	FEM1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459000.1			19	31	1	0	8.00594e-06	1	8.40624e-06	19	31					A	4792690	C	A	4792690	3	1	325	1	0	0	0	0	1	0	0	0	5809	855	30	5	826	5	FEM1A	19	4792690	Missense_Mutation	SNP	C	TCGA-KK-A7AY-01A-11D-A33T-08	2514073	4792690	54336293	47	16650											
GLT25D1	79709	broad.mit.edu	37	chr19	17688065	17688065	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cccaccaagacaccggacaaGatgggcttcgacgaggtgag	12	4	13	12	3	0	3	0	1	0	2	1	6	0	4	3	3	0	1	3	3	2	1			TCGA-KK-A7AY-01A-11D-A33T-08	TCGA-KK-A7AY-11A-21D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80ac0a78-2ebc-488d-a0db-c2fda0b57966	258a8d92-ed5a-4028-a93f-28b61fa48dec	g.chr19:17688065G>C	ENST00000252599.4	+	7	1131	c.1011G>C	c.(1009-1011)aaG>aaC	p.K337N		NM_024656.2	NP_078932.2	Q8NBJ5	GT251_HUMAN	collagen beta(1-O)galactosyltransferase 1	337					extracellular matrix organization (GO:0030198)|lipopolysaccharide biosynthetic process (GO:0009103)	endoplasmic reticulum lumen (GO:0005788)|membrane (GO:0016020)	procollagen galactosyltransferase activity (GO:0050211)										CACCGGACAAGATGGGCTTCG	0.672																																						ENST00000252599.4																			0											c.(1009-1011)aaG>aaC		collagen beta(1-O)galactosyltransferase 1							37	37	37					19																	17688065		2203	4300	6503	SO:0001583	missense	79709							g.chr19:17688065G>C	AK075541	CCDS12363.1	19p13.11	2013-02-27	2013-02-27	2013-02-27	ENSG00000130309	ENSG00000130309			26182	protein-coding gene	gene with protein product			"glycosyltransferase 25 domain containing 1"	GLT25D1		19075007	Standard	NM_024656		Approved	FLJ22329	uc002nhc.1	Q8NBJ5		ENST00000252599.4:c.1011G>C	19.37:g.17688065G>C	ENSP00000252599:p.Lys337Asn						p.K337N	NM_024656.2	NP_078932.2					7	1131	+								Q8NC64	Missense_Mutation	SNP	ENST00000252599.4	37	c.1011G>C	CCDS12363.1	.	.	.	.	.	.	.	.	.	.	G	14.19	2.460612	0.43736	.	.	ENSG00000130309	ENST00000379714;ENST00000252599	T	0.79454	-1.27	4.71	3.66	0.41972	.	0.048127	0.85682	D	0.000000	D	0.83852	0.5344	M	0.88775	2.98	0.54753	D	0.999988	P;P	0.52692	0.644;0.955	P;P	0.52598	0.461;0.703	D	0.85729	0.1330	10	0.72032	D	0.01	-4.7187	8.1977	0.31407	0.1102:0.0:0.8898:0.0	.	65;337	E9PC06;Q8NBJ5	.;GT251_HUMAN	N	65;337	ENSP00000252599:K337N	ENSP00000252599:K337N	K	+	3	2	GLT25D1	17549065	1.000000	0.71417	1.000000	0.80357	0.004000	0.04260	0.808000	0.27154	2.347000	0.79759	0.579000	0.79373	AAG		0.672	COLGALT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464216.1	NM_024656		9	25	0	0	0	1	0	9	25					C	17688065	G	C	17688065	3	2	325	1	0	0	0	0	1	0	0	0	6466	933	33	5	1037	5	GLT25D1	19	17688065	Missense_Mutation	SNP	G	TCGA-KK-A7AY-01A-11D-A33T-08	12895375	17688065	41440918	48	16651											
ZNF99	7652	broad.mit.edu	37	chr19	22939396	22939396	+	IGR	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtaaggtgtgaggattgcttAaaagctttgccacattcttc	10	14	10	7	0	1	1	0	1	1	0	2	2	1	2	1	2	3	3	1	2	3	6	rs577414244	byFrequency	TCGA-KK-A7AY-01A-11D-A33T-08	TCGA-KK-A7AY-11A-21D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80ac0a78-2ebc-488d-a0db-c2fda0b57966	258a8d92-ed5a-4028-a93f-28b61fa48dec	g.chr19:22939396A>G	ENST00000596209.1	-	0	2686				ZNF99_ENST00000397104.3_Silent_p.F925F|CTC-451A6.4_ENST00000442497.2_lincRNA	NM_001080409.2	NP_001073878.2	A8MXY4	ZNF99_HUMAN	zinc finger protein 99						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				AGGATTGCTTAAAAGCTTTGC	0.378													A|||	72	0.014377	0.0499	0	5008	,	,		17649	0.004		0	False		,,,				2504	0.002					ENST00000397104.3																			0				NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124						c.(2773-2775)ttT>ttC		zinc finger protein 99							37	49	45					19																	22939396		1952	4262	6214	SO:0001628	intergenic_variant	7652							g.chr19:22939396A>G	BC021822	CCDS59369.1	19p12	2013-01-08	2006-01-17		ENSG00000213973	ENSG00000213973		"Zinc fingers, C2H2-type", "-"	13175	protein-coding gene	gene with protein product		603981	"zinc finger protein 99 (F8281)", "chromosome 19 open reading frame 9"	C19orf9			Standard	NM_001080409		Approved	MGC24986	uc021urt.1	A8MXY4			19.37:g.22939396A>G							p.F925F							7	2774	-		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)						M0R335	Silent	SNP	ENST00000596209.1	37	c.2775T>C	CCDS59369.1																																																																																				0.378	ZNF99-001	NOVEL	not_best_in_genome_evidence|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000464591.1	XM_065124		10	26	0	0	0	1	0	10	26					G	22939396	A	G	22939396	1	3	325	0	1	0	0	0	0	0	0	0	18201	359	13	4		4	ZNF99	19	22939396	IGR	SNP	A	TCGA-KK-A7AY-01A-11D-A33T-08	5251331	22939396	36189587	49	16652											
CYP2S1	29785	broad.mit.edu	37	chr19	41704370	41704370	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcccccattccccccaggacGcccattcgatccctccctgc	5	7	6	23	2	0	0	0	0	0	0	4	2	3	1	8	1	1	0	8	1	0	2	rs45457494		TCGA-KK-A7AY-01A-11D-A33T-08	TCGA-KK-A7AY-11A-21D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80ac0a78-2ebc-488d-a0db-c2fda0b57966	258a8d92-ed5a-4028-a93f-28b61fa48dec	g.chr19:41704370G>A	ENST00000310054.4	+	4	713	c.497G>A	c.(496-498)cGc>cAc	p.R166H	CYP2S1_ENST00000542619.1_Intron	NM_030622.6	NP_085125.1	Q96SQ9	CP2S1_HUMAN	cytochrome P450, family 2, subfamily S, polypeptide 1	166					small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			breast(1)|endometrium(3)|large_intestine(3)|lung(5)|skin(2)	14						CCCCCAGGACGCCCATTCGAT	0.627													g|||	1	0.000199681	0	0	5008	,	,		17728	0		0.001	False		,,,				2504	0					ENST00000310054.4																			0				breast(1)|endometrium(3)|large_intestine(3)|lung(5)|skin(2)	14						c.(496-498)cGc>cAc		cytochrome P450, family 2, subfamily S, polypeptide 1			HIS/ARG	0,4406		0,0,2203	122	115	117		497	-10.3	0	19	dbSNP_127	117	31,8569	21.0+/-64.5	0,31,4269	yes	missense	CYP2S1	NM_030622.6	29	0,31,6472	AA,AG,GG		0.3605,0.0,0.2384	benign	166/505	41704370	31,12975	2203	4300	6503	SO:0001583	missense	29785				xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|retinoic acid 4-hydroxylase activity	g.chr19:41704370G>A	AA301039	CCDS12573.1	19q13.2	2013-11-11	2003-01-14		ENSG00000167600	ENSG00000167600		"Cytochrome P450s"	15654	protein-coding gene	gene with protein product		611529	"cytochrome P450, subfamily IIS, polypeptide 1"			11181079	Standard	NM_030622		Approved		uc002opw.3	Q96SQ9	OTTHUMG00000182721	ENST00000310054.4:c.497G>A	19.37:g.41704370G>A	ENSP00000308032:p.Arg166His					CYP2S1_ENST00000542619.1_Intron	p.R166H	NM_030622.6	NP_085125.1	Q96SQ9	CP2S1_HUMAN			4	713	+			166					Q9BZ66	Missense_Mutation	SNP	ENST00000310054.4	37	c.497G>A	CCDS12573.1	.	.	.	.	.	.	.	.	.	.	g	15.55	2.866946	0.51588	0.0	0.003605	ENSG00000167600	ENST00000301173;ENST00000310054	T	0.68903	-0.36	5.14	-10.3	0.00346	.	2.019370	0.02308	N	0.071858	T	0.59445	0.2194	L	0.58583	1.82	0.09310	N	1	B	0.10296	0.003	B	0.06405	0.002	T	0.52049	-0.8627	10	0.62326	D	0.03	.	11.8986	0.52669	0.6985:0.1885:0.113:0.0	rs45457494;rs61736649	166	Q96SQ9	CP2S1_HUMAN	H	166	ENSP00000308032:R166H	ENSP00000301173:R166H	R	+	2	0	CYP2S1	46396210	0.000000	0.05858	0.000000	0.03702	0.405000	0.30901	-2.438000	0.01017	-1.765000	0.01303	0.306000	0.20318	CGC		0.627	CYP2S1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463287.1			47	74	0	0	0	1	0	47	74					A	41704370	G	A	41704370	3	1	325	1	0	0	0	0	1	0	0	0	4174	1087	38	1	511	1	CYP2S1	19	41704370	Missense_Mutation	SNP	G	TCGA-KK-A7AY-01A-11D-A33T-08	18764974	41704370	17424613	50	16653											
ZNF577	84765	broad.mit.edu	37	chr19	52376325	52376325	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aggtctgacttaaaatagaaGgttcttccacaatcactgca	14	11	7	9	0	3	2	1	1	2	1	4	2	4	2	1	2	1	2	1	2	5	4			TCGA-KK-A7AY-01A-11D-A33T-08	TCGA-KK-A7AY-11A-21D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80ac0a78-2ebc-488d-a0db-c2fda0b57966	258a8d92-ed5a-4028-a93f-28b61fa48dec	g.chr19:52376325G>C	ENST00000301399.5	-	7	1283	c.918C>G	c.(916-918)acC>acG	p.T306T	ZNF577_ENST00000451628.2_Silent_p.T247T|ZNF577_ENST00000420592.1_Silent_p.T247T|ZNF577_ENST00000412216.1_Intron|ZNF577_ENST00000485702.1_Intron	NM_032679.2	NP_116068.2	Q9BSK1	ZN577_HUMAN	zinc finger protein 577	306					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	21		all_neural(266;0.0602)		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.019)		TAAAATAGAAGGTTCTTCCAC	0.433																																						ENST00000420592.1																			0				breast(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	21						c.(739-741)acC>acG		zinc finger protein 577							100	97	98					19																	52376325		2203	4300	6503	SO:0001819	synonymous_variant	84765				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52376325G>C	AL832871	CCDS12842.2, CCDS46160.1	19q13.41	2013-09-20			ENSG00000161551	ENSG00000161551		"Zinc fingers, C2H2-type", "-"	28673	protein-coding gene	gene with protein product						12477932	Standard	NM_032679		Approved	MGC4400	uc010yde.2	Q9BSK1	OTTHUMG00000157045	ENST00000301399.5:c.918C>G	19.37:g.52376325G>C						ZNF577_ENST00000485702.1_Intron|ZNF577_ENST00000451628.2_Silent_p.T247T|ZNF577_ENST00000301399.5_Silent_p.T306T|ZNF577_ENST00000412216.1_Intron	p.T247T			Q9BSK1	ZN577_HUMAN		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.019)	6	2074	-		all_neural(266;0.0602)	306					A8K0B4|A8K6Z7|C9JFB9	Silent	SNP	ENST00000301399.5	37	c.741C>G	CCDS12842.2																																																																																				0.433	ZNF577-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000347243.1	NM_032679		22	56	0	0	0	1	0	22	56					C	52376325	G	C	52376325	2	2	325	1	0	0	0	0	0	0	0	1	18006	987	35	5		5	ZNF577	19	52376325	Silent	SNP	G	TCGA-KK-A7AY-01A-11D-A33T-08	10671955	52376325	6752658	51	16654											
LILRB1	10859	broad.mit.edu	37	chr19	55148290	55148290	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcccaggaagggccctctccAgctgtgcccagcatctacgc	7	7	10	17	1	2	0	0	0	2	0	4	1	3	1	4	2	4	2	4	2	2	1			TCGA-KK-A7AY-01A-11D-A33T-08	TCGA-KK-A7AY-11A-21D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80ac0a78-2ebc-488d-a0db-c2fda0b57966	258a8d92-ed5a-4028-a93f-28b61fa48dec	g.chr19:55148290A>T	ENST00000396331.1	+	16	2271	c.1914A>T	c.(1912-1914)ccA>ccT	p.P638P	LILRB1_ENST00000396321.2_Silent_p.P638P|LILRB1_ENST00000462628.1_3'UTR|LILRB1_ENST00000427581.2_Silent_p.P689P|LILRB1_ENST00000396317.1_Silent_p.P622P|LILRB1_ENST00000396332.4_Silent_p.P639P|LILRB1_ENST00000418536.2_Silent_p.P622P|LILRB1_ENST00000324602.7_Silent_p.P640P|LILRB1_ENST00000448689.1_3'UTR|LILRB1_ENST00000434867.2_Silent_p.P638P|LILRB1_ENST00000396327.3_Silent_p.P639P|AC009892.10_ENST00000456337.1_Intron|LILRB1_ENST00000396315.1_Silent_p.P640P	NM_006669.3	NP_006660.3	Q8NHL6	LIRB1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1	638					cellular response to lipopolysaccharide (GO:0071222)|defense response to virus (GO:0051607)|dendritic cell differentiation (GO:0097028)|Fc receptor mediated inhibitory signaling pathway (GO:0002774)|immune response-inhibiting cell surface receptor signaling pathway (GO:0002767)|interferon-gamma production (GO:0032609)|interferon-gamma secretion (GO:0072643)|negative regulation of alpha-beta T cell activation (GO:0046636)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of CD8-positive, alpha-beta T cell activation (GO:2001186)|negative regulation of cell cycle (GO:0045786)|negative regulation of cytokine secretion involved in immune response (GO:0002740)|negative regulation of dendritic cell apoptotic process (GO:2000669)|negative regulation of dendritic cell differentiation (GO:2001199)|negative regulation of endocytosis (GO:0045806)|negative regulation of interferon-beta secretion (GO:0035548)|negative regulation of interferon-gamma biosynthetic process (GO:0045077)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-10 secretion (GO:2001180)|negative regulation of interleukin-12 secretion (GO:2001183)|negative regulation of mononuclear cell proliferation (GO:0032945)|negative regulation of natural killer cell mediated cytotoxicity (GO:0045953)|negative regulation of osteoclast development (GO:2001205)|negative regulation of serotonin secretion (GO:0014063)|negative regulation of T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell (GO:2001189)|negative regulation of T cell mediated cytotoxicity (GO:0001915)|negative regulation of T cell proliferation (GO:0042130)|negative regulation of transforming growth factor-beta secretion (GO:2001202)|negative regulation of tumor necrosis factor biosynthetic process (GO:0042536)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cytolysis (GO:0045919)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of gamma-delta T cell activation involved in immune response (GO:2001193)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|receptor internalization (GO:0031623)|regulation of immune response (GO:0050776)|response to virus (GO:0009615)|signal transduction (GO:0007165)|T cell proliferation involved in immune response (GO:0002309)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	HLA-A specific inhibitory MHC class I receptor activity (GO:0030107)|HLA-B specific inhibitory MHC class I receptor activity (GO:0030109)|MHC class I protein binding (GO:0042288)|MHC class I receptor activity (GO:0032393)|protein homodimerization activity (GO:0042803)|protein phosphatase 1 binding (GO:0008157)|SH2 domain binding (GO:0042169)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	74				GBM - Glioblastoma multiforme(193;0.0188)		GGCCCTCTCCAGCTGTGCCCA	0.647										HNSCC(37;0.09)																												ENST00000396331.1																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	74						c.(1912-1914)ccA>ccT		leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1							86	74	78					19																	55148290		2203	4300	6503	SO:0001819	synonymous_variant	0				regulation of immune response|response to virus	integral to membrane|plasma membrane	protein phosphatase 1 binding|receptor activity	g.chr19:55148290A>T	AF009220	CCDS42614.1, CCDS42615.1, CCDS42616.1, CCDS42617.1, CCDS62803.1	19q13.4	2013-01-11						"Leukocyte immunoglobulin-like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6605	protein-coding gene	gene with protein product		604811				9285411, 9382880	Standard	XM_006726246		Approved	LIR-1, ILT2, MIR-7, CD85, LIR1, CD85j	uc002qgm.3	Q8NHL6		ENST00000396331.1:c.1914A>T	19.37:g.55148290A>T		HNSCC(37;0.09)				LILRB1_ENST00000448689.1_3'UTR|LILRB1_ENST00000427581.2_Silent_p.P689P|LILRB1_ENST00000434867.2_Silent_p.P638P|LILRB1_ENST00000396317.1_Silent_p.P622P|LILRB1_ENST00000396315.1_Silent_p.P640P|LILRB1_ENST00000324602.7_Silent_p.P640P|LILRB1_ENST00000396321.2_Silent_p.P638P|LILRB1_ENST00000396327.3_Silent_p.P639P|LILRB1_ENST00000396332.4_Silent_p.P639P|AC009892.10_ENST00000456337.1_Intron|LILRB1_ENST00000418536.2_Silent_p.P622P|LILRB1_ENST00000462628.1_3'UTR	p.P638P	NM_006669.3	NP_006660.3	Q8NHL6	LIRB1_HUMAN		GBM - Glioblastoma multiforme(193;0.0188)	16	2271	+			638					A2IXV4|A8MXT0|O75024|O75025|Q8NHJ9|Q8NHK0	Silent	SNP	ENST00000396331.1	37	c.1914A>T	CCDS42617.1																																																																																				0.647	LILRB1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000140796.4			26	46	0	0	0	1	0	26	46					T	55148290	A	T	55148290	2	4	325	1	0	0	0	0	0	0	0	1	8790	175	7	5		5	LILRB1	19	55148290	Silent	SNP	A	TCGA-KK-A7AY-01A-11D-A33T-08	2771965	55148290	3980693	52	16655											
C20orf26	26074	broad.mit.edu	37	chr20	20269374	20269374	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cttccacaccaacgacatagCcatcagagctgctggctccc	10	7	7	17	1	1	1	1	0	0	1	3	2	3	1	4	1	4	3	4	1	2	2			TCGA-KK-A7AY-01A-11D-A33T-08	TCGA-KK-A7AY-11A-21D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80ac0a78-2ebc-488d-a0db-c2fda0b57966	258a8d92-ed5a-4028-a93f-28b61fa48dec	g.chr20:20269374C>G	ENST00000245957.5	+	23	2994	c.2918C>G	c.(2917-2919)gCc>gGc	p.A973G	C20orf26_ENST00000377309.2_Intron	NM_015585.3	NP_056400.3	Q8NHU2	CT026_HUMAN		973										NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	77				READ - Rectum adenocarcinoma(2;0.171)		AACGACATAGCCATCAGAGCT	0.428																																						ENST00000245957.5																			0				NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	77						c.(2917-2919)gCc>gGc		chromosome 20 open reading frame 26							151	139	143					20																	20269374		2203	4300	6503	SO:0001583	missense	26074							g.chr20:20269374C>G																												ENST00000245957.5:c.2918C>G	20.37:g.20269374C>G	ENSP00000245957:p.Ala973Gly					C20orf26_ENST00000377309.2_Intron	p.A973G	NM_015585.3	NP_056400.3	Q8NHU2	CT026_HUMAN		READ - Rectum adenocarcinoma(2;0.171)	23	2994	+			973					A6NHA1|Q5JXV4|Q5TE18|Q8N5R9|Q96M59|Q9BQL2|Q9H127|Q9H128|Q9NQH4|Q9UFV8|Q9Y4V7	Missense_Mutation	SNP	ENST00000245957.5	37	c.2918C>G	CCDS33447.1	.	.	.	.	.	.	.	.	.	.	C	16.59	3.164719	0.57476	.	.	ENSG00000089101	ENST00000343997;ENST00000389655;ENST00000245957	T	0.35236	1.32	5.75	5.75	0.90469	.	0.449602	0.23426	N	0.048317	T	0.39600	0.1084	L	0.48642	1.525	0.80722	D	1	P	0.46142	0.873	P	0.46452	0.517	T	0.03852	-1.0998	10	0.22706	T	0.39	.	16.4258	0.83814	0.0:0.86:0.14:0.0	.	973	Q8NHU2	CT026_HUMAN	G	913;939;973	ENSP00000245957:A973G	ENSP00000245957:A973G	A	+	2	0	C20orf26	20217374	0.738000	0.28186	1.000000	0.80357	0.964000	0.63967	2.615000	0.46368	2.732000	0.93576	0.650000	0.86243	GCC		0.428	C20orf26-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078228.3			47	75	0	0	0	1	0	47	75					G	20269374	C	G	20269374	3	3	325	1	0	0	0	0	1	0	0	0	2106	739	26	5	3036	5	C20orf26	20	20269374	Missense_Mutation	SNP	C	TCGA-KK-A7AY-01A-11D-A33T-08		20269374	42756146	53	16656											
C21orf45	54069	broad.mit.edu	37	chr21	33651140	33651140	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agctgcgccctctccatgtcGgccaccgacgcgtcttcgct	4	9	10	18	6	2	0	0	0	2	0	5	1	2	0	4	1	2	2	4	1	0	1			TCGA-KK-A7AY-01A-11D-A33T-08	TCGA-KK-A7AY-11A-21D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80ac0a78-2ebc-488d-a0db-c2fda0b57966	258a8d92-ed5a-4028-a93f-28b61fa48dec	g.chr21:33651140G>T	ENST00000290130.3	-	1	240	c.186C>A	c.(184-186)gcC>gcA	p.A62A	MIS18A-AS1_ENST00000453549.1_RNA	NM_018944.2	NP_061817.1	Q9NYP9	MS18A_HUMAN	MIS18 kinetochore protein A	62					CENP-A containing nucleosome assembly (GO:0034080)|chromosome segregation (GO:0007059)|mitotic nuclear division (GO:0007067)|nucleosome assembly (GO:0006334)|regulation of DNA methylation (GO:0044030)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(2)	7						TCTCCATGTCGGCCACCGACG	0.692																																						ENST00000290130.3																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(2)	7						c.(184-186)gcC>gcA		MIS18 kinetochore protein A							17	16	16					21																	33651140		2200	4296	6496	SO:0001819	synonymous_variant	54069				cell division|CenH3-containing nucleosome assembly at centromere|mitosis	chromosome, centromeric region|nucleoplasm		g.chr21:33651140G>T	AF231921	CCDS13611.1	21q22.11	2013-10-21	2013-10-21	2011-02-23	ENSG00000159055	ENSG00000159055			1286	protein-coding gene	gene with protein product			"chromosome 21 open reading frame 46", "chromosome 21 open reading frame 45", "MIS18 kinetochore protein homolog A (S. pombe)"	C21orf46, C21orf45		17199038	Standard	NM_018944		Approved	B28, FASP1, hMis18alpha	uc002ypi.3	Q9NYP9	OTTHUMG00000085308	ENST00000290130.3:c.186C>A	21.37:g.33651140G>T						MIS18A-AS1_ENST00000453549.1_RNA	p.A62A	NM_018944.2	NP_061817.1	Q9NYP9	MS18A_HUMAN			1	240	-			62					B2R562|Q542Z0	Silent	SNP	ENST00000290130.3	37	c.186C>A	CCDS13611.1																																																																																				0.692	MIS18A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000193090.1	NM_018944		5	0	1	0	0.000602214	1	0.000621959	5	0					T	33651140	G	T	33651140	2	4	325	1	0	0	0	0	0	0	0	1	2126	1103	39	5		5	C21orf45	21	33651140	Silent	SNP	G	TCGA-KK-A7AY-01A-11D-A33T-08		33651140	14478755	54	16657											
XRCC6	2547	broad.mit.edu	37	chr22	42042990	42042990	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aagcctcctccaataaagctCtatcgggaaacaaatgaacc	16	7	6	12	1	1	1	0	1	1	0	4	2	3	2	4	1	4	1	4	1	8	2			TCGA-KK-A7AY-01A-11D-A33T-08	TCGA-KK-A7AY-11A-21D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80ac0a78-2ebc-488d-a0db-c2fda0b57966	258a8d92-ed5a-4028-a93f-28b61fa48dec	g.chr22:42042990C>T	ENST00000359308.4	+	6	1519	c.864C>T	c.(862-864)ctC>ctT	p.L288L	Y_RNA_ENST00000363462.1_RNA|XRCC6_ENST00000402580.3_Silent_p.L247L|XRCC6_ENST00000405878.1_Silent_p.L288L|XRCC6_ENST00000428575.2_Silent_p.L155L|XRCC6_ENST00000360079.3_Silent_p.L288L|XRCC6_ENST00000405506.1_Silent_p.L238L			P12956	XRCC6_HUMAN	X-ray repair complementing defective repair in Chinese hamster cells 6	288	Ku.				brain development (GO:0007420)|cellular hyperosmotic salinity response (GO:0071475)|cellular response to X-ray (GO:0071481)|DNA duplex unwinding (GO:0032508)|DNA ligation (GO:0006266)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|establishment of integrated proviral latency (GO:0075713)|innate immune response (GO:0045087)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|telomere maintenance (GO:0000723)|transcription, DNA-templated (GO:0006351)|V(D)J recombination (GO:0033151)|viral process (GO:0016032)	cytosol (GO:0005829)|Ku70:Ku80 complex (GO:0043564)|membrane (GO:0016020)|nonhomologous end joining complex (GO:0070419)|nuclear telomere cap complex (GO:0000783)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	5'-deoxyribose-5-phosphate lyase activity (GO:0051575)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)|telomeric DNA binding (GO:0042162)|transcription regulatory region DNA binding (GO:0044212)			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	31						CAATAAAGCTCTATCGGGAAA	0.458								Non-homologous end-joining																														ENST00000359308.4																			0				central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	31						c.(862-864)ctC>ctT	Non-homologous end-joining	X-ray repair complementing defective repair in Chinese hamster cells 6							129	140	136					22																	42042990		2203	4300	6503	SO:0001819	synonymous_variant	2547				DNA ligation|double-strand break repair via nonhomologous end joining|initiation of viral infection|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|provirus integration|telomere maintenance|transcription, DNA-dependent	DNA-dependent protein kinase-DNA ligase 4 complex|Ku70:Ku80 complex|membrane fraction|nuclear telomere cap complex|transcription factor complex	5'-deoxyribose-5-phosphate lyase activity|ATP binding|ATP-dependent DNA helicase activity|double-stranded DNA binding|protein C-terminus binding|transcription regulatory region DNA binding	g.chr22:42042990C>T	J04607	CCDS14021.1, CCDS74870.1, CCDS74871.1	22q13.2	2011-09-12	2008-07-31	2005-05-06	ENSG00000196419	ENSG00000196419			4055	protein-coding gene	gene with protein product	"Ku autoantigen, 70kDa"	152690	"thyroid autoantigen 70kD (Ku antigen)", "thyroid autoantigen 70kDa (Ku antigen)"	G22P1		9200330, 9223317	Standard	NM_001469		Approved	D22S731, D22S671, KU70, ML8	uc003bao.1	P12956	OTTHUMG00000151190	ENST00000359308.4:c.864C>T	22.37:g.42042990C>T						XRCC6_ENST00000405506.1_Silent_p.L238L|XRCC6_ENST00000405878.1_Silent_p.L288L|XRCC6_ENST00000428575.2_Silent_p.L155L|XRCC6_ENST00000402580.3_Silent_p.L247L|XRCC6_ENST00000360079.3_Silent_p.L288L	p.L288L			P12956	XRCC6_HUMAN			6	1519	+			288			Ku.		B1AHC8|Q6FG89|Q9UCQ2|Q9UCQ3	Silent	SNP	ENST00000359308.4	37	c.864C>T	CCDS14021.1																																																																																				0.458	XRCC6-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321688.1	NM_001469		65	112	0	0	0	1	0	65	112					T	42042990	C	T	42042990	2	4	325	1	0	0	0	0	0	0	0	1	17454	900	32	3		3	XRCC6	22	42042990	Silent	SNP	C	TCGA-KK-A7AY-01A-11D-A33T-08		42042990	9261576	55	16658											
ESX1	80712	broad.mit.edu	37	chrX	103498923	103498923	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaacgcggtgcggcggcggcGtttcctctctgggggctgtg	2	9	19	11	6	1	0	0	0	1	0	3	1	2	0	1	6	2	2	1	6	1	1			TCGA-KK-A7AY-01A-11D-A33T-08	TCGA-KK-A7AY-11A-21D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80ac0a78-2ebc-488d-a0db-c2fda0b57966	258a8d92-ed5a-4028-a93f-28b61fa48dec	g.chrX:103498923G>A	ENST00000372588.4	-	2	501	c.418C>T	c.(418-420)Cgc>Tgc	p.R140C		NM_153448.3	NP_703149.1	Q8N693	ESX1_HUMAN	ESX homeobox 1	140					labyrinthine layer blood vessel development (GO:0060716)|labyrinthine layer morphogenesis (GO:0060713)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of cell cycle (GO:0051726)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding (GO:0043565)			endometrium(2)|large_intestine(10)|lung(12)|ovary(1)|skin(2)	27						CGGCGGCGGCGTTTCCTCTCT	0.632																																					Pancreas(200;1705 2227 25194 28471 45274)	ENST00000372588.4																			0				endometrium(2)|large_intestine(10)|lung(12)|ovary(1)|skin(2)	27						c.(418-420)Cgc>Tgc		ESX homeobox 1							34	33	33					X																	103498923		2203	4299	6502	SO:0001583	missense	80712				negative regulation of transcription, DNA-dependent|regulation of cell cycle	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chrX:103498923G>A	AL049631	CCDS14516.1	Xq22.2	2011-06-20	2007-07-11	2006-02-08	ENSG00000123576	ENSG00000123576		"Homeoboxes / PRD class"	14865	protein-coding gene	gene with protein product		300154	"extraembryonic, spermatogenesis, homeobox 1 homolog (mouse)"	ESX1L		11374906, 17242862	Standard	NM_153448		Approved	ESXR1	uc004ely.3	Q8N693	OTTHUMG00000022125	ENST00000372588.4:c.418C>T	X.37:g.103498923G>A	ENSP00000361669:p.Arg140Cys						p.R140C	NM_153448.3	NP_703149.1	Q8N693	ESX1_HUMAN			2	501	-			140					B0QYU3|Q7Z6K7	Missense_Mutation	SNP	ENST00000372588.4	37	c.418C>T	CCDS14516.1	.	.	.	.	.	.	.	.	.	.	g	16.69	3.192792	0.58017	.	.	ENSG00000123576	ENST00000372588	D	0.97352	-4.35	4.48	3.62	0.41486	Homeodomain-related (1);Homeobox (3);POU (1);Homeodomain-like (1);	.	.	.	.	D	0.97964	0.9330	M	0.84948	2.725	0.32492	N	0.540023	D	0.89917	1.0	D	0.79784	0.993	D	0.97057	0.9768	9	0.87932	D	0	1.0992	5.3808	0.16189	0.1115:0.2019:0.6866:0.0	.	140	Q8N693	ESX1_HUMAN	C	140	ENSP00000361669:R140C	ENSP00000361669:R140C	R	-	1	0	ESX1	103385579	0.998000	0.40836	0.313000	0.25210	0.070000	0.16714	3.325000	0.52030	1.239000	0.43787	0.534000	0.68092	CGC		0.632	ESX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057763.2	NM_153448		3	39	0	0	0	1	0	3	39					A	103498923	G	A	103498923	3	1	325	1	0	0	0	0	1	0	0	0	5263	1145	40	1	814	1	ESX1	23	103498923	Missense_Mutation	SNP	G	TCGA-KK-A7AY-01A-11D-A33T-08		103498923	51771637	56	16659											
C1orf175	374977	broad.mit.edu	37	chr1	55130850	55130850	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgccctgcaggagcctttgaTgaagtgacctcatgcctggt	7	11	12	11	0	1	3	1	3	0	0	1	4	1	4	4	2	4	1	4	2	1	1			TCGA-KK-A7AZ-01A-12D-A32B-08	TCGA-KK-A7AZ-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f1c7f2a-40c5-45f3-8d16-a57db576d7a8	264de6e7-6977-404f-94eb-1bfbedd5a1e7	g.chr1:55130850T>G	ENST00000421030.2	+	4	1527	c.1242T>G	c.(1240-1242)gaT>gaG	p.D414E	MROH7_ENST00000339553.5_Missense_Mutation_p.D414E|MROH7_ENST00000395690.2_Missense_Mutation_p.D414E|MROH7_ENST00000545244.1_De_novo_Start_OutOfFrame|MROH7-TTC4_ENST00000414150.2_Missense_Mutation_p.D414E|MROH7_ENST00000409996.1_De_novo_Start_OutOfFrame|MROH7_ENST00000454855.2_De_novo_Start_InFrame	NM_001039464.2	NP_001034553	Q68CQ1	MROH7_HUMAN	maestro heat-like repeat family member 7	414						extracellular space (GO:0005615)|integral component of membrane (GO:0016021)											GAGCCTTTGATGAAGTGACCT	0.542																																						ENST00000409996.1																			0													maestro heat-like repeat family member 7							99	104	102					1																	55130850		2103	4225	6328	SO:0001583	missense	374977							g.chr1:55130850T>G	AL832492	CCDS41342.2	1p32.3	2012-12-19	2012-12-19	2012-12-19	ENSG00000184313	ENSG00000184313		"maestro heat-like repeat containing"	24802	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 175", "HEAT repeat containing 8"	C1orf175, HEATR8		12477932	Standard	NM_001039464		Approved	FLJ46354	uc010ooe.1	Q68CQ1	OTTHUMG00000009890	ENST00000421030.2:c.1242T>G	1.37:g.55130850T>G	ENSP00000396622:p.Asp414Glu					MROH7_ENST00000395690.2_Missense_Mutation_p.D414E|MROH7_ENST00000339553.5_Missense_Mutation_p.D414E|MROH7_ENST00000545244.1_De_novo_Start_OutOfFrame|MROH7_ENST00000414150.2_Missense_Mutation_p.D414E|MROH7_ENST00000421030.2_Missense_Mutation_p.D414E|MROH7_ENST00000454855.2_De_novo_Start_InFrame								0	172	+								A0AUX8|Q5TA99|Q6ZP40|Q6ZRH6|Q8N311|Q8NA14	Translation_Start_Site	SNP	ENST00000421030.2	37		CCDS41342.2	.	.	.	.	.	.	.	.	.	.	T	1.340	-0.594354	0.03771	.	.	ENSG00000184313	ENST00000421030;ENST00000414867;ENST00000339553;ENST00000395690	T;T;T	0.04119	3.7;3.7;3.7	3.47	-2.12	0.07165	.	.	.	.	.	T	0.01627	0.0052	N	0.04508	-0.205	0.09310	N	0.999995	B;B	0.09022	0.002;0.002	B;B	0.09377	0.004;0.003	T	0.46005	-0.9222	9	0.05436	T	0.98	.	3.8129	0.08804	0.5391:0.1097:0.0:0.3512	.	414;414	F8W8P2;Q68CQ1	.;HEAT8_HUMAN	E	414;439;414;414	ENSP00000396622:D414E;ENSP00000343211:D414E;ENSP00000379044:D414E	ENSP00000343211:D414E	D	+	3	2	HEATR8	54903438	0.002000	0.14202	0.000000	0.03702	0.093000	0.18481	-0.942000	0.03921	-0.408000	0.07565	-0.473000	0.04963	GAT		0.542	MROH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346978.1	NM_198547		10	27	0	0	0	1	0	10	27					G	55130850	T	G	55130850	3	3	326	1	0	0	0	0	1	0	0	0	2016	1461	51	5	1248	5	C1orf175	1	55130850	Missense_Mutation	SNP	T	TCGA-KK-A7AZ-01A-12D-A32B-08		55130850	194119771	1	16660											
SPTA1	6708	broad.mit.edu	37	chr1	158627401	158627401	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcttcaagatcattttgtcGcctagcagctcgagcacgga	9	10	11	11	3	2	1	2	0	0	1	4	3	2	2	1	2	3	4	1	2	2	4			TCGA-KK-A7AZ-01A-12D-A32B-08	TCGA-KK-A7AZ-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f1c7f2a-40c5-45f3-8d16-a57db576d7a8	264de6e7-6977-404f-94eb-1bfbedd5a1e7	g.chr1:158627401G>A	ENST00000368147.4	-	19	2851	c.2671C>T	c.(2671-2673)Cga>Tga	p.R891*		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	891					actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)	p.R891*(1)		NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					TCATTTTGTCGCCTAGCAGCT	0.463																																						ENST00000368148.3																			1	Substitution - Nonsense(1)	p.R891*(1)	endometrium(1)	NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307						c.(2671-2673)Cga>Tga		spectrin, alpha, erythrocytic 1 (elliptocytosis 2)							175	172	173					1																	158627401		2011	4191	6202	SO:0001587	stop_gained	6708				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	g.chr1:158627401G>A	M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"EF-hand domain containing"	11272	protein-coding gene	gene with protein product	"elliptocytosis 2"	182860	"spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.2671C>T	1.37:g.158627401G>A	ENSP00000357129:p.Arg891*					SPTA1_ENST00000368147.3_Nonsense_Mutation_p.R891*	p.R891*	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN			19	2851	-	all_hematologic(112;0.0378)		891					Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Nonsense_Mutation	SNP	ENST00000368147.4	37	c.2671C>T	CCDS41423.1	.	.	.	.	.	.	.	.	.	.	G	37	6.627707	0.97718	.	.	ENSG00000163554	ENST00000368148;ENST00000368147	.	.	.	4.67	2.72	0.32119	.	0.000000	0.29609	N	0.011661	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.3699	0.55250	0.0:0.0:0.6925:0.3075	.	.	.	.	X	891	.	ENSP00000357129:R891X	R	-	1	2	SPTA1	156894025	1.000000	0.71417	0.017000	0.16124	0.037000	0.13140	2.194000	0.42668	0.634000	0.30469	0.655000	0.94253	CGA		0.463	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126		56	77	0	0	0	1	0	56	77					A	158627401	G	A	158627401	4	1	326	1	0	0	0	0	0	1	0	0	15115	1095	38	1	4724	1	SPTA1	1	158627401	Nonsense_Mutation	SNP	G	TCGA-KK-A7AZ-01A-12D-A32B-08	103496551	158627401	90623220	2	16661											
ZFP36L2	678	broad.mit.edu	37	chr2	43452511	43452512	+	Frame_Shift_Ins	INS	-	-	CC																															agttgatctgggagccgccgINSccccccttctgctgctgctg																								rs546559004	byFrequency	TCGA-KK-A7AZ-01A-12D-A32B-08	TCGA-KK-A7AZ-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f1c7f2a-40c5-45f3-8d16-a57db576d7a8	264de6e7-6977-404f-94eb-1bfbedd5a1e7	g.chr2:43452511_43452512insCC	ENST00000282388.3	-	2	724_725	c.431_432insGG	c.(430-432)ggcfs	p.G144fs	THADA_ENST00000330266.7_Intron	NM_006887.4	NP_008818.3	P47974	TISD_HUMAN	ZFP36 ring finger protein-like 2	144	Poly-Gly.				cell proliferation (GO:0008283)|definitive hemopoiesis (GO:0060216)|hemopoiesis (GO:0030097)|mRNA catabolic process (GO:0006402)|negative regulation of stem cell differentiation (GO:2000737)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|regulation of mRNA stability (GO:0043488)|regulation of transcription, DNA-templated (GO:0006355)|somatic stem cell division (GO:0048103)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	AU-rich element binding (GO:0017091)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|mRNA 3'-UTR AU-rich region binding (GO:0035925)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	15		Acute lymphoblastic leukemia(82;0.00323)|all_hematologic(82;0.00824)				GGGAGCCGCCGCCCCCCTTCTG	0.639																																						ENST00000282388.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	15						c.(430-432)gggfs		ZFP36 ring finger protein-like 2																																				SO:0001589	frameshift_variant	678				cell proliferation	nucleus	DNA binding|RNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr2:43452511_43452512insCC	X78992	CCDS1811.1	2p22.3-p21	2012-11-27	2012-11-27	2001-11-23	ENSG00000152518	ENSG00000152518		"RING-type (C3HC4) zinc fingers"	1108	protein-coding gene	gene with protein product		612053	"zinc finger protein 36, C3H type-like 1", "zinc finger protein 36, C3H type-like 2"	BRF2		7835719, 8545129, 14981510, 17172869	Standard	NM_006887		Approved	ERF2, RNF162C, TIS11D	uc002rsv.4	P47974	OTTHUMG00000128642	ENST00000282388.3:c.430_431dupGG	2.37:g.43452516_43452517dupCC	ENSP00000282388:p.Gly144fs					THADA_ENST00000330266.7_Intron	p.G144fs	NM_006887.4	NP_008818.3	P47974	TISD_HUMAN			2	724_725	-		Acute lymphoblastic leukemia(82;0.00323)|all_hematologic(82;0.00824)	144			Poly-Gly.		Q53TB4|Q9BSJ3	Frame_Shift_Ins	INS	ENST00000282388.3	37	c.431_432insGG	CCDS1811.1																																																																																				0.639	ZFP36L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250513.2	NM_006887		11	7						11	7	---	---	---	---	CC	43452512	-	CC	43452511	7	5	326	1	0	1	1	0	0	0	0	0	17644	1074	38	0	1056	0	ZFP36L2	2	43452511	Frame_Shift_Ins	INS	-	TCGA-KK-A7AZ-01A-12D-A32B-08		43452511	199746862	3	16662											
ACVR2A	92	broad.mit.edu	37	chr2	148683678	148683678	+	Missense_Mutation	SNP	T	T	G																															tgaagacatgcaggaagttgTtgtgcataaaaaaaagaggc																										TCGA-KK-A7AZ-01A-12D-A32B-08	TCGA-KK-A7AZ-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f1c7f2a-40c5-45f3-8d16-a57db576d7a8	264de6e7-6977-404f-94eb-1bfbedd5a1e7	g.chr2:148683678T>G	ENST00000241416.7	+	10	1931	c.1295T>G	c.(1294-1296)gTt>gGt	p.V432G	ACVR2A_ENST00000495775.1_3'UTR|ACVR2A_ENST00000404590.1_Missense_Mutation_p.V432G|ACVR2A_ENST00000535787.1_Missense_Mutation_p.V324G	NM_001278579.1|NM_001278580.1|NM_001616.3	NP_001265508.1|NP_001265509.1|NP_001607.1	P27037	AVR2A_HUMAN	activin A receptor, type IIA	432	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activin receptor signaling pathway (GO:0032924)|anterior/posterior pattern specification (GO:0009952)|BMP signaling pathway (GO:0030509)|cellular response to BMP stimulus (GO:0071773)|determination of left/right symmetry (GO:0007368)|embryonic skeletal system development (GO:0048706)|gastrulation with mouth forming second (GO:0001702)|mesoderm development (GO:0007498)|penile erection (GO:0043084)|positive regulation of activin receptor signaling pathway (GO:0032927)|positive regulation of bone mineralization (GO:0030501)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of protein phosphorylation (GO:0001934)|regulation of BMP signaling pathway (GO:0030510)|regulation of nitric-oxide synthase activity (GO:0050999)|Sertoli cell proliferation (GO:0060011)|sperm ejaculation (GO:0042713)|spermatogenesis (GO:0007283)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|inhibin-betaglycan-ActRII complex (GO:0034673)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|coreceptor activity (GO:0015026)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|transforming growth factor beta-activated receptor activity (GO:0005024)|transmembrane receptor protein serine/threonine kinase activity (GO:0004675)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(5)|large_intestine(14)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(8)	45				BRCA - Breast invasive adenocarcinoma(221;0.0969)		CAGGAAGTTGTTGTGCATAAA	0.353																																						ENST00000241416.7																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(5)|large_intestine(14)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(8)	45						c.(1294-1296)gTt>gGt		activin A receptor, type IIA							172	142	152					2																	148683678		2203	4299	6502	SO:0001583	missense	92				activin receptor signaling pathway|BMP signaling pathway|positive regulation of activin receptor signaling pathway|positive regulation of bone mineralization|positive regulation of erythrocyte differentiation|positive regulation of osteoblast differentiation|positive regulation of protein phosphorylation	cytoplasm|inhibin-betaglycan-ActRII complex|integral to plasma membrane	ATP binding|coreceptor activity|inhibin beta-A binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|transforming growth factor beta receptor activity	g.chr2:148683678T>G		CCDS33301.1, CCDS63030.1	2q22.2-q23.3	2008-02-05	2005-05-10	2005-05-10	ENSG00000121989	ENSG00000121989			173	protein-coding gene	gene with protein product		102581	"activin A receptor, type II"	ACVR2		1314589, 10702675	Standard	NM_001278579		Approved	ACTRII	uc002twh.3	P27037	OTTHUMG00000150603	ENST00000241416.7:c.1295T>G	2.37:g.148683678T>G	ENSP00000241416:p.Val432Gly					ACVR2A_ENST00000404590.1_Missense_Mutation_p.V432G|ACVR2A_ENST00000495775.1_3'UTR|ACVR2A_ENST00000535787.1_Missense_Mutation_p.V324G	p.V432G	NM_001278579.1|NM_001278580.1|NM_001616.3	NP_001265508.1|NP_001265509.1|NP_001607.1	P27037	AVR2A_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0969)	10	1931	+			432			Protein kinase.		B2RAB8|B4DWQ2|D3DP85|Q53TH4|Q6NWV2|Q92474	Missense_Mutation	SNP	ENST00000241416.7	37	c.1295T>G	CCDS33301.1	.	.	.	.	.	.	.	.	.	.	T	24.8	4.572678	0.86542	.	.	ENSG00000121989	ENST00000241416;ENST00000535787;ENST00000404590	T;T;T	0.68181	-0.31;-0.31;-0.31	5.16	5.16	0.70880	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.84692	0.5528	M	0.89785	3.06	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.88155	0.2853	10	0.87932	D	0	.	15.1659	0.72825	0.0:0.0:0.0:1.0	.	432	P27037	AVR2A_HUMAN	G	432;324;432	ENSP00000241416:V432G;ENSP00000439988:V324G;ENSP00000384338:V432G	ENSP00000241416:V432G	V	+	2	0	ACVR2A	148400148	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.868000	0.87116	2.166000	0.68216	0.477000	0.44152	GTT		0.353	ACVR2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319051.1	NM_001616		13	183	0	0	0	1	0	13	183					G	148683678	T	G	148683678	3	3	326	1	0	0	0	0	1	0	0	0	223	1725	60	5	1333	5	ACVR2A	2	148683678	Missense_Mutation	SNP	T	TCGA-KK-A7AZ-01A-12D-A32B-08	105231167	148683678	94515695	4	16663	82	2									
ACVR2A	92	broad.mit.edu	37	chr2	148683679	148683679	+	Silent	SNP	T	T	A																															gaagacatgcaggaagttgtTgtgcataaaaaaaagaggcc																										TCGA-KK-A7AZ-01A-12D-A32B-08	TCGA-KK-A7AZ-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f1c7f2a-40c5-45f3-8d16-a57db576d7a8	264de6e7-6977-404f-94eb-1bfbedd5a1e7	g.chr2:148683679T>A	ENST00000241416.7	+	10	1932	c.1296T>A	c.(1294-1296)gtT>gtA	p.V432V	ACVR2A_ENST00000495775.1_3'UTR|ACVR2A_ENST00000404590.1_Silent_p.V432V|ACVR2A_ENST00000535787.1_Silent_p.V324V	NM_001278579.1|NM_001278580.1|NM_001616.3	NP_001265508.1|NP_001265509.1|NP_001607.1	P27037	AVR2A_HUMAN	activin A receptor, type IIA	432	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activin receptor signaling pathway (GO:0032924)|anterior/posterior pattern specification (GO:0009952)|BMP signaling pathway (GO:0030509)|cellular response to BMP stimulus (GO:0071773)|determination of left/right symmetry (GO:0007368)|embryonic skeletal system development (GO:0048706)|gastrulation with mouth forming second (GO:0001702)|mesoderm development (GO:0007498)|penile erection (GO:0043084)|positive regulation of activin receptor signaling pathway (GO:0032927)|positive regulation of bone mineralization (GO:0030501)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of protein phosphorylation (GO:0001934)|regulation of BMP signaling pathway (GO:0030510)|regulation of nitric-oxide synthase activity (GO:0050999)|Sertoli cell proliferation (GO:0060011)|sperm ejaculation (GO:0042713)|spermatogenesis (GO:0007283)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|inhibin-betaglycan-ActRII complex (GO:0034673)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|coreceptor activity (GO:0015026)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|transforming growth factor beta-activated receptor activity (GO:0005024)|transmembrane receptor protein serine/threonine kinase activity (GO:0004675)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(5)|large_intestine(14)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(8)	45				BRCA - Breast invasive adenocarcinoma(221;0.0969)		AGGAAGTTGTTGTGCATAAAA	0.353																																						ENST00000241416.7																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(5)|large_intestine(14)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(8)	45						c.(1294-1296)gtT>gtA		activin A receptor, type IIA							170	140	150					2																	148683679		2203	4299	6502	SO:0001819	synonymous_variant	92				activin receptor signaling pathway|BMP signaling pathway|positive regulation of activin receptor signaling pathway|positive regulation of bone mineralization|positive regulation of erythrocyte differentiation|positive regulation of osteoblast differentiation|positive regulation of protein phosphorylation	cytoplasm|inhibin-betaglycan-ActRII complex|integral to plasma membrane	ATP binding|coreceptor activity|inhibin beta-A binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|transforming growth factor beta receptor activity	g.chr2:148683679T>A		CCDS33301.1, CCDS63030.1	2q22.2-q23.3	2008-02-05	2005-05-10	2005-05-10	ENSG00000121989	ENSG00000121989			173	protein-coding gene	gene with protein product		102581	"activin A receptor, type II"	ACVR2		1314589, 10702675	Standard	NM_001278579		Approved	ACTRII	uc002twh.3	P27037	OTTHUMG00000150603	ENST00000241416.7:c.1296T>A	2.37:g.148683679T>A						ACVR2A_ENST00000404590.1_Silent_p.V432V|ACVR2A_ENST00000495775.1_3'UTR|ACVR2A_ENST00000535787.1_Silent_p.V324V	p.V432V	NM_001278579.1|NM_001278580.1|NM_001616.3	NP_001265508.1|NP_001265509.1|NP_001607.1	P27037	AVR2A_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0969)	10	1932	+			432			Protein kinase.		B2RAB8|B4DWQ2|D3DP85|Q53TH4|Q6NWV2|Q92474	Silent	SNP	ENST00000241416.7	37	c.1296T>A	CCDS33301.1																																																																																				0.353	ACVR2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319051.1	NM_001616		12	184	0	0	0	1	0	12	184					A	148683679	T	A	148683679	2	1	326	1	0	0	0	0	0	0	0	1	223	1799	63	5		5	ACVR2A	2	148683679	Silent	SNP	T	TCGA-KK-A7AZ-01A-12D-A32B-08	1	148683679	94515694	5	16664	82	2									
CALCRL	10203	broad.mit.edu	37	chr2	188216844	188216844	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tatcaagaatgccatacctgGaagtgcataaggatgtgcat	14	10	10	7	0	1	1	1	0	0	1	1	3	1	3	2	2	4	2	2	2	6	3			TCGA-KK-A7AZ-01A-12D-A32B-08	TCGA-KK-A7AZ-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f1c7f2a-40c5-45f3-8d16-a57db576d7a8	264de6e7-6977-404f-94eb-1bfbedd5a1e7	g.chr2:188216844G>T	ENST00000409998.1	-	14	1906	c.1125C>A	c.(1123-1125)ttC>ttA	p.F375L	CALCRL_ENST00000392370.3_Missense_Mutation_p.F375L|AC007319.1_ENST00000412276.1_RNA|AC007319.1_ENST00000453517.1_RNA|CALCRL_ENST00000410068.1_Missense_Mutation_p.F375L			Q16602	CALRL_HUMAN	calcitonin receptor-like	375					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|angiogenesis (GO:0001525)|calcium ion transport (GO:0006816)|cAMP biosynthetic process (GO:0006171)|cellular response to sucrose stimulus (GO:0071329)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|heart development (GO:0007507)|negative regulation of inflammatory response (GO:0050728)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of smooth muscle cell proliferation (GO:0048661)|protein transport (GO:0015031)|receptor internalization (GO:0031623)|regulation of muscle contraction (GO:0006937)	endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)|plasma membrane (GO:0005886)	adrenomedullin receptor activity (GO:0001605)|calcitonin gene-related polypeptide receptor activity (GO:0001635)|calcitonin receptor activity (GO:0004948)|G-protein coupled receptor activity (GO:0004930)|protein transporter activity (GO:0008565)			endometrium(1)|large_intestine(7)|lung(21)|ovary(1)|prostate(1)|skin(1)	32			OV - Ovarian serous cystadenocarcinoma(117;0.0554)|Epithelial(96;0.227)			GCCATACCTGGAAGTGCATAA	0.398																																						ENST00000409998.1																			0				endometrium(1)|large_intestine(7)|lung(21)|ovary(1)|prostate(1)|skin(1)	32						c.(1123-1125)ttC>ttA		calcitonin receptor-like							88	79	82					2																	188216844		2203	4299	6502	SO:0001583	missense	10203					integral to plasma membrane		g.chr2:188216844G>T	U17473	CCDS2293.1	2q21.1-q21.3	2012-08-10			ENSG00000064989	ENSG00000064989		"GPCR / Class B : Calcitonin receptors"	16709	protein-coding gene	gene with protein product		114190				7818539, 8626685	Standard	NM_005795		Approved	CGRPR, CRLR	uc010frt.4	Q16602	OTTHUMG00000132636	ENST00000409998.1:c.1125C>A	2.37:g.188216844G>T	ENSP00000386972:p.Phe375Leu					AC007319.1_ENST00000412276.1_RNA|CALCRL_ENST00000392370.3_Missense_Mutation_p.F375L|CALCRL_ENST00000410068.1_Missense_Mutation_p.F375L|AC007319.1_ENST00000453517.1_RNA	p.F375L			Q16602	CALRL_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0554)|Epithelial(96;0.227)		14	1906	-			375					A8K6G5|A8KAD3|Q53S02|Q53TS5	Missense_Mutation	SNP	ENST00000409998.1	37	c.1125C>A	CCDS2293.1	.	.	.	.	.	.	.	.	.	.	G	14.45	2.539377	0.45176	.	.	ENSG00000064989	ENST00000392370;ENST00000409998;ENST00000410068	T;T;T	0.41400	1.0;1.0;1.0	4.62	-6.88	0.01665	GPCR, family 2-like (1);	0.443892	0.20823	N	0.085038	T	0.35098	0.0920	L	0.56124	1.755	0.40399	D	0.979629	B	0.10296	0.003	B	0.18871	0.023	T	0.03945	-1.0990	10	0.66056	D	0.02	.	16.645	0.85174	0.2601:0.0:0.7399:0.0	.	375	Q16602	CALRL_HUMAN	L	375	ENSP00000376177:F375L;ENSP00000386972:F375L;ENSP00000387190:F375L	ENSP00000376177:F375L	F	-	3	2	CALCRL	187925089	0.728000	0.28080	0.101000	0.21167	0.854000	0.48673	-0.043000	0.12043	-1.484000	0.01856	-0.355000	0.07637	TTC		0.398	CALCRL-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334648.1	NM_005795		37	32	1	0	1.22674e-20	1	1.34701e-20	37	32					T	188216844	G	T	188216844	3	4	326	1	0	0	0	0	1	0	0	0	2580	1165	41	5	272	5	CALCRL	2	188216844	Missense_Mutation	SNP	G	TCGA-KK-A7AZ-01A-12D-A32B-08	39533165	188216844	54982529	6	16665											
SCN5A	6331	broad.mit.edu	37	chr3	38592256	38592256	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccatctggatcttcagggcGtccatctccccagactcccc	6	10	7	18	1	4	1	1	0	3	1	8	2	7	2	6	2	0	0	6	2	0	1	rs560476223		TCGA-KK-A7AZ-01A-12D-A32B-08	TCGA-KK-A7AZ-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f1c7f2a-40c5-45f3-8d16-a57db576d7a8	264de6e7-6977-404f-94eb-1bfbedd5a1e7	g.chr3:38592256G>A	ENST00000333535.4	-	28	5756	c.5607C>T	c.(5605-5607)gaC>gaT	p.D1869D	SCN5A_ENST00000450102.2_Silent_p.D1815D|SCN5A_ENST00000449557.2_Silent_p.D1815D|SCN5A_ENST00000451551.2_Silent_p.D1815D|SCN5A_ENST00000423572.2_Silent_p.D1868D|SCN5A_ENST00000464652.1_5'Flank|SCN5A_ENST00000455624.2_Silent_p.D1836D|SCN5A_ENST00000443581.1_Silent_p.D1868D|SCN5A_ENST00000413689.1_Silent_p.D1869D|SCN5A_ENST00000414099.2_Silent_p.D1851D|SCN5A_ENST00000425664.1_Silent_p.D1851D			Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	1869	Interaction with FGF13.				AV node cell to bundle of His cell communication (GO:0086067)|brainstem development (GO:0003360)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cardiac muscle cell action potential involved in contraction (GO:0086002)|cardiac muscle contraction (GO:0060048)|cardiac ventricle development (GO:0003231)|cellular response to calcium ion (GO:0071277)|cerebellum development (GO:0021549)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane depolarization during SA node cell action potential (GO:0086046)|neuronal action potential (GO:0019228)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of action potential (GO:0045760)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of sodium ion transport (GO:0010765)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of sodium ion transmembrane transport (GO:1902305)|regulation of ventricular cardiac muscle cell membrane depolarization (GO:0060373)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|telencephalon development (GO:0021537)|ventricular cardiac muscle cell action potential (GO:0086005)	caveola (GO:0005901)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	ankyrin binding (GO:0030506)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|fibroblast growth factor binding (GO:0017134)|ion channel binding (GO:0044325)|nitric-oxide synthase binding (GO:0050998)|protein kinase binding (GO:0019901)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)|voltage-gated sodium channel activity (GO:0005248)|voltage-gated sodium channel activity involved in cardiac muscle cell action potential (GO:0086006)			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Ajmaline(DB01426)|Aprindine(DB01429)|Benzonatate(DB00868)|Carbamazepine(DB00564)|Cinchocaine(DB00527)|Cocaine(DB00907)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lidocaine(DB00281)|Mexiletine(DB00379)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine barbiturate(DB01346)|Quinidine(DB00908)|Ranolazine(DB00243)|Riluzole(DB00740)|Tocainide(DB01056)|Valproic Acid(DB00313)|Verapamil(DB00661)|Zonisamide(DB00909)	TCTTCAGGGCGTCCATCTCCC	0.572													G|||	1	0.000199681	0	0	5008	,	,		17464	0		0	False		,,,				2504	0.001					ENST00000413689.1																			0				NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107						c.(5605-5607)gaC>gaT		sodium channel, voltage-gated, type V, alpha subunit	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)						157	171	167					3																	38592256		2094	4207	6301	SO:0001819	synonymous_variant	6331				blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity	g.chr3:38592256G>A	AJ310893	CCDS46796.1, CCDS46797.1, CCDS46798.1, CCDS46799.1, CCDS54569.1, CCDS54570.1	3p21	2014-09-17	2007-01-23		ENSG00000183873	ENSG00000183873		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10593	protein-coding gene	gene with protein product	"long QT syndrome 3"	600163	"sodium channel, voltage-gated, type V, alpha (long QT syndrome 3)"	CMD1E		7842012, 15466643, 16382098	Standard	NM_198056		Approved	Nav1.5, LQT3, HB1, HBBD, PFHB1, IVF, HB2, HH1, SSS1, CDCD2, CMPD2, ICCD	uc021wvl.1	Q14524	OTTHUMG00000156166	ENST00000333535.4:c.5607C>T	3.37:g.38592256G>A						SCN5A_ENST00000423572.2_Silent_p.D1868D|SCN5A_ENST00000451551.2_Silent_p.D1815D|SCN5A_ENST00000333535.4_Silent_p.D1869D|SCN5A_ENST00000450102.2_Silent_p.D1815D|SCN5A_ENST00000449557.2_Silent_p.D1815D|SCN5A_ENST00000443581.1_Silent_p.D1868D|SCN5A_ENST00000425664.1_Silent_p.D1851D|SCN5A_ENST00000414099.2_Silent_p.D1851D|SCN5A_ENST00000455624.2_Silent_p.D1836D	p.D1869D	NM_001099404.1|NM_001160160.1	NP_001092874.1|NP_001153632.1	Q14524	SCN5A_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	28	5800	-	Medulloblastoma(35;0.163)		1869					A5H1P8|A6N922|A6N923|B2RTU0|E7ET19|E9PEF3|E9PEK2|E9PFW7|Q59H93|Q75RX9|Q75RY0|Q86UR3|Q8IZC9|Q96J69	Silent	SNP	ENST00000333535.4	37	c.5607C>T	CCDS46796.1																																																																																				0.572	SCN5A-014	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000377958.1	NM_198056		4	86	0	0	0	1	0	4	86					A	38592256	G	A	38592256	2	1	326	1	0	0	0	0	0	0	0	1	13922	1136	40	1		1	SCN5A	3	38592256	Silent	SNP	G	TCGA-KK-A7AZ-01A-12D-A32B-08		38592256	159430174	7	16666											
SLC12A8	84561	broad.mit.edu	37	chr3	124802839	124802839	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgagctgagtcatctccatGtcaaccttagccagggacgg	9	9	12	11	1	3	2	2	2	1	0	4	3	3	3	3	2	3	1	3	2	2	1			TCGA-KK-A7AZ-01A-12D-A32B-08	TCGA-KK-A7AZ-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f1c7f2a-40c5-45f3-8d16-a57db576d7a8	264de6e7-6977-404f-94eb-1bfbedd5a1e7	g.chr3:124802839G>A	ENST00000393469.4	-	13	2089	c.2040C>T	c.(2038-2040)gaC>gaT	p.D680D	SLC12A8_ENST00000465475.1_5'UTR|SLC12A8_ENST00000314584.7_Silent_p.D341D|SLC12A8_ENST00000423114.2_Silent_p.D709D|SLC12A8_ENST00000430155.2_Silent_p.D481D|SLC12A8_ENST00000469902.1_Silent_p.D680D	NM_001195483.1	NP_001182412	A0AV02	S12A8_HUMAN	solute carrier family 12, member 8	680					potassium ion transport (GO:0006813)	integral component of membrane (GO:0016021)	symporter activity (GO:0015293)			endometrium(2)|kidney(2)|lung(12)	16						TCATCTCCATGTCAACCTTAG	0.582																																						ENST00000423114.2																			0				endometrium(2)|kidney(2)|lung(12)	16						c.(2125-2127)gaC>gaT		solute carrier family 12, member 8							54	59	58					3																	124802839		2098	4227	6325	SO:0001819	synonymous_variant	84561				potassium ion transport	integral to membrane	symporter activity	g.chr3:124802839G>A		CCDS43143.1	3q21.2	2013-07-18	2013-07-18		ENSG00000221955	ENSG00000221955		"Solute carriers"	15595	protein-coding gene	gene with protein product	"solute carrier family 12 (sodium/potassium/chloride transporters), member 8", "cation-chloride cotransporter 9"	611316				11863360	Standard	NM_024628		Approved	CCC9	uc003ehv.4	A0AV02	OTTHUMG00000159483	ENST00000393469.4:c.2040C>T	3.37:g.124802839G>A						SLC12A8_ENST00000314584.7_Silent_p.D341D|SLC12A8_ENST00000465475.1_5'UTR|SLC12A8_ENST00000430155.2_Silent_p.D481D|SLC12A8_ENST00000393469.4_Silent_p.D680D|SLC12A8_ENST00000469902.1_Silent_p.D680D	p.D709D			A0AV02	S12A8_HUMAN			14	2126	-			680					C9JJJ2|Q68D04|Q6I9Z2|Q6P4C0|Q7Z3A6|Q86WK0|Q8NFX9|Q8WUI3|Q96RF9|Q9H5P9	Silent	SNP	ENST00000393469.4	37	c.2127C>T	CCDS43143.1																																																																																				0.582	SLC12A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355711.4	NM_024628		7	9	0	0	0	1	0	7	9					A	124802839	G	A	124802839	2	1	326	1	0	0	0	0	0	0	0	1	14389	1368	48	3		3	SLC12A8	3	124802839	Silent	SNP	G	TCGA-KK-A7AZ-01A-12D-A32B-08	86210583	124802839	73219591	8	16667											
ZNF639	51193	broad.mit.edu	37	chr3	179051242	179051242	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acaattcctctgagagtctcCaagaccaaactgatgaagaa	16	8	7	10	0	2	5	0	3	2	3	4	6	3	5	3	0	1	0	3	0	5	1			TCGA-KK-A7AZ-01A-12D-A32B-08	TCGA-KK-A7AZ-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f1c7f2a-40c5-45f3-8d16-a57db576d7a8	264de6e7-6977-404f-94eb-1bfbedd5a1e7	g.chr3:179051242C>A	ENST00000326361.3	+	7	935	c.490C>A	c.(490-492)Caa>Aaa	p.Q164K	ZNF639_ENST00000496856.1_Missense_Mutation_p.Q164K|ZNF639_ENST00000484866.1_Missense_Mutation_p.Q164K|ZNF639_ENST00000466663.1_3'UTR	NM_016331.1	NP_057415.1	Q9UID6	ZN639_HUMAN	zinc finger protein 639	164					negative regulation by host of viral transcription (GO:0043922)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of cell growth (GO:0030307)|transcription, DNA-templated (GO:0006351)|viral entry into host cell (GO:0046718)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein self-association (GO:0043621)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(10)|urinary_tract(1)	16	all_cancers(143;7.9e-17)|Ovarian(172;0.0172)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0923)			TGAGAGTCTCCAAGACCAAAC	0.418																																						ENST00000326361.3																			0				NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(10)|urinary_tract(1)	16						c.(490-492)Caa>Aaa		zinc finger protein 639							66	68	68					3																	179051242		2203	4300	6503	SO:0001583	missense	51193				initiation of viral infection|negative regulation by host of viral transcription|negative regulation of transcription, DNA-dependent|positive regulation by host of viral transcription|positive regulation of cell growth|positive regulation of transcription, DNA-dependent	nucleus	protein self-association|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr3:179051242C>A	BC020500	CCDS3227.1	3q27.1	2010-03-26			ENSG00000121864	ENSG00000121864		"Zinc fingers, C2H2-type"	30950	protein-coding gene	gene with protein product	"zinc finger amplified in esophageal squamous cell carcinomas 1"					14522885	Standard	NM_016331		Approved	ANC-2H01, ZASC1	uc003fjr.1	Q9UID6	OTTHUMG00000157439	ENST00000326361.3:c.490C>A	3.37:g.179051242C>A	ENSP00000325634:p.Gln164Lys					ZNF639_ENST00000466663.1_3'UTR|ZNF639_ENST00000496856.1_Missense_Mutation_p.Q164K|ZNF639_ENST00000484866.1_Missense_Mutation_p.Q164K	p.Q164K	NM_016331.1	NP_057415.1	Q9UID6	ZN639_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0923)		7	935	+	all_cancers(143;7.9e-17)|Ovarian(172;0.0172)|Breast(254;0.155)		164					A9X3Z9|D3DNR3	Missense_Mutation	SNP	ENST00000326361.3	37	c.490C>A	CCDS3227.1	.	.	.	.	.	.	.	.	.	.	C	11.57	1.677528	0.29783	.	.	ENSG00000121864	ENST00000496856;ENST00000491818;ENST00000326361;ENST00000466264;ENST00000484866	T;T;T;T	0.03496	3.91;3.91;4.5;3.91	5.87	5.87	0.94306	.	0.252367	0.33792	N	0.004549	T	0.03695	0.0105	N	0.24115	0.695	0.27300	N	0.957602	B	0.09022	0.002	B	0.11329	0.006	T	0.38887	-0.9640	10	0.32370	T	0.25	.	14.336	0.66589	0.0:0.8109:0.1891:0.0	.	164	Q9UID6	ZN639_HUMAN	K	164	ENSP00000417740:Q164K;ENSP00000325634:Q164K;ENSP00000419650:Q164K;ENSP00000418766:Q164K	ENSP00000325634:Q164K	Q	+	1	0	ZNF639	180533936	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	3.392000	0.52537	2.941000	0.99782	0.655000	0.94253	CAA		0.418	ZNF639-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348855.1	NM_016331		3	54	1	0	0.115264	1	0.115264	3	54					A	179051242	C	A	179051242	3	1	326	1	0	0	0	0	1	0	0	0	18053	595	21	5	504	5	ZNF639	3	179051242	Missense_Mutation	SNP	C	TCGA-KK-A7AZ-01A-12D-A32B-08	54248403	179051242	18971188	9	16668											
HOPX	84525	broad.mit.edu	37	chr4	57522053	57522053	+	Silent	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcctcggaaaggcctgcctcGgccgcgatgaggcacagcgt	7	6	14	14	5	0	1	0	1	0	0	3	3	1	2	4	4	2	1	4	4	1	0			TCGA-KK-A7AZ-01A-12D-A32B-08	TCGA-KK-A7AZ-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f1c7f2a-40c5-45f3-8d16-a57db576d7a8	264de6e7-6977-404f-94eb-1bfbedd5a1e7	g.chr4:57522053G>C	ENST00000337881.7	-	2	770	c.114C>G	c.(112-114)gcC>gcG	p.A38A	HOPX_ENST00000381260.3_Silent_p.A38A|HOPX_ENST00000508121.1_Silent_p.A56A|HOPX_ENST00000420433.1_Silent_p.A56A|HOPX_ENST00000556614.2_Silent_p.A38A|HOPX_ENST00000555760.2_Silent_p.A38A|HOPX_ENST00000554144.1_Silent_p.A56A|HOPX_ENST00000556376.2_Silent_p.A38A|HOPX_ENST00000503639.3_Silent_p.A38A|HOPX_ENST00000553379.2_Silent_p.A38A|HOPX_ENST00000381255.3_Silent_p.A38A|HOPX_ENST00000317745.7_Silent_p.A38A	NM_139212.3	NP_631958.1	Q9BPY8	HOP_HUMAN	HOP homeobox	38					heart development (GO:0007507)|histone deacetylation (GO:0016575)|lung alveolus development (GO:0048286)|negative regulation of cell differentiation (GO:0045596)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of skeletal muscle tissue regeneration (GO:0043415)|positive regulation of striated muscle cell differentiation (GO:0051155)|regulation of heart contraction (GO:0008016)|regulation of protein binding (GO:0043393)|transcription, DNA-templated (GO:0006351)|trophectodermal cell differentiation (GO:0001829)	nucleus (GO:0005634)	DNA binding (GO:0003677)			large_intestine(2)|lung(5)|skin(1)	8	Glioma(25;0.08)|all_neural(26;0.101)					GGCCTGCCTCGGCCGCGATGA	0.687																																						ENST00000554144.1																			0				large_intestine(2)|lung(5)|skin(1)	8						c.(166-168)gcC>gcG		HOP homeobox							75	68	70					4																	57522053		2203	4300	6503	SO:0001819	synonymous_variant	84525				negative regulation of cell differentiation|trophectodermal cell differentiation	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr4:57522053G>C		CCDS3507.1, CCDS47062.1, CCDS54767.1	4q12	2011-06-20			ENSG00000171476	ENSG00000171476		"Homeoboxes / PRD class"	24961	protein-coding gene	gene with protein product	"homeobox only domain"	607275				12297045	Standard	NM_032495		Approved	LAGY, HOP, OB1, NECC1, SMAP31	uc003hbz.2	Q9BPY8	OTTHUMG00000128768	ENST00000337881.7:c.114C>G	4.37:g.57522053G>C						HOPX_ENST00000556376.2_Silent_p.A38A|HOPX_ENST00000553379.2_Silent_p.A38A|HOPX_ENST00000317745.7_Silent_p.A38A|HOPX_ENST00000337881.7_Silent_p.A38A|HOPX_ENST00000381255.3_Silent_p.A38A|HOPX_ENST00000381260.3_Silent_p.A38A|HOPX_ENST00000508121.1_Silent_p.A56A|HOPX_ENST00000420433.1_Silent_p.A56A|HOPX_ENST00000503639.3_Silent_p.A38A|HOPX_ENST00000555760.2_Silent_p.A38A|HOPX_ENST00000556614.2_Silent_p.A38A	p.A56A	NM_001145460.1	NP_001138932.1	Q9BPY8	HOP_HUMAN			3	702	-	Glioma(25;0.08)|all_neural(26;0.101)		38					A8K0Z2|E9PB55|G3V294|Q8N0V6|Q96CI1	Silent	SNP	ENST00000337881.7	37	c.168C>G	CCDS3507.1																																																																																				0.687	HOPX-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250689.4			5	14	0	0	0	1	0	5	14					C	57522053	G	C	57522053	2	2	326	1	0	0	0	0	0	0	0	1	7285	1103	39	5		5	HOPX	4	57522053	Silent	SNP	G	TCGA-KK-A7AZ-01A-12D-A32B-08		57522053	133632223	10	16669											
SCARB2	950	broad.mit.edu	37	chr4	77084530	77084530	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cgccgtctctttatcaatgtGaacactctggagaggcaaga	11	10	10	10	2	3	3	1	1	2	2	4	4	3	3	1	2	1	1	1	2	4	2			TCGA-KK-A7AZ-01A-12D-A32B-08	TCGA-KK-A7AZ-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f1c7f2a-40c5-45f3-8d16-a57db576d7a8	264de6e7-6977-404f-94eb-1bfbedd5a1e7	g.chr4:77084530G>C	ENST00000264896.2	-	11	1595	c.1246C>G	c.(1246-1248)Cac>Gac	p.H416D	SCARB2_ENST00000452464.2_Missense_Mutation_p.H273D	NM_005506.3	NP_005497.1	Q14108	SCRB2_HUMAN	scavenger receptor class B, member 2	416					cell adhesion (GO:0007155)|protein targeting to lysosome (GO:0006622)	extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|lysosomal lumen (GO:0043202)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	enzyme binding (GO:0019899)|receptor activity (GO:0004872)			breast(1)|endometrium(4)|kidney(4)|large_intestine(7)|lung(3)|prostate(2)|skin(1)	22			Lung(101;0.196)			TTATCAATGTGAACACTCTGG	0.383																																						ENST00000264896.2																			0				breast(1)|endometrium(4)|kidney(4)|large_intestine(7)|lung(3)|prostate(2)|skin(1)	22						c.(1246-1248)Cac>Gac		scavenger receptor class B, member 2							167	149	155					4																	77084530		2203	4300	6503	SO:0001583	missense	950				cell adhesion|protein targeting to lysosome	integral to plasma membrane|lysosomal lumen|lysosomal membrane|membrane fraction	enzyme binding|receptor activity	g.chr4:77084530G>C	D12676	CCDS3577.1, CCDS56335.1	4q21.1	2014-07-11	2002-09-06	2002-09-06	ENSG00000138760	ENSG00000138760			1665	protein-coding gene	gene with protein product		602257	"CD36 antigen (collagen type I receptor, thrombospondin receptor)-like 2 (lysosomal integral membrane protein II)"	CD36L2		1374238	Standard	NM_005506		Approved	HLGP85, LIMPII, SR-BII, LIMP-2	uc003hju.2	Q14108	OTTHUMG00000130099	ENST00000264896.2:c.1246C>G	4.37:g.77084530G>C	ENSP00000264896:p.His416Asp					SCARB2_ENST00000452464.2_Missense_Mutation_p.H273D	p.H416D	NM_005506.3	NP_005497.1	Q14108	SCRB2_HUMAN	Lung(101;0.196)		11	1595	-			416					B4DKD8|E7EM68|Q53Y63	Missense_Mutation	SNP	ENST00000264896.2	37	c.1246C>G	CCDS3577.1	.	.	.	.	.	.	.	.	.	.	G	13.84	2.358318	0.41801	.	.	ENSG00000138760	ENST00000264896;ENST00000452464	T;T	0.71222	-0.55;-0.55	5.87	2.02	0.26589	.	0.350897	0.28760	N	0.014223	T	0.46870	0.1415	N	0.04880	-0.145	0.20638	N	0.99987	B;B	0.11235	0.004;0.004	B;B	0.11329	0.006;0.004	T	0.34079	-0.9843	10	0.33940	T	0.23	.	10.9251	0.47187	0.0736:0.5103:0.4161:0.0	.	273;416	E7EM68;Q14108	.;SCRB2_HUMAN	D	416;273	ENSP00000264896:H416D;ENSP00000399154:H273D	ENSP00000264896:H416D	H	-	1	0	SCARB2	77303554	0.993000	0.37304	1.000000	0.80357	0.962000	0.63368	0.410000	0.21098	0.330000	0.23485	0.655000	0.94253	CAC		0.383	SCARB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252403.1	NM_005506		24	50	0	0	0	1	0	24	50					C	77084530	G	C	77084530	3	2	326	1	0	0	0	0	1	0	0	0	13882	1290	45	5	198	5	SCARB2	4	77084530	Missense_Mutation	SNP	G	TCGA-KK-A7AZ-01A-12D-A32B-08	19562477	77084530	114069746	11	16670											
ANXA10	11199	broad.mit.edu	37	chr4	169060678	169060678	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaacattctgactcagcgcTgcaatgcacaaaggatgatg	13	9	9	10	1	3	2	2	2	1	0	3	3	3	3	0	1	4	3	0	1	3	1			TCGA-KK-A7AZ-01A-12D-A32B-08	TCGA-KK-A7AZ-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f1c7f2a-40c5-45f3-8d16-a57db576d7a8	264de6e7-6977-404f-94eb-1bfbedd5a1e7	g.chr4:169060678T>G	ENST00000359299.3	+	3	328	c.142T>G	c.(142-144)Tgc>Ggc	p.C48G		NM_007193.4	NP_009124.2	Q9UJ72	ANX10_HUMAN	annexin A10	48						mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)			endometrium(1)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|stomach(2)	16		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.0325)		GACTCAGCGCTGCAATGCACA	0.413																																						ENST00000359299.3																			0				endometrium(1)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|stomach(2)	16						c.(142-144)Tgc>Ggc		annexin A10							108	102	104					4																	169060678		2203	4300	6503	SO:0001583	missense	11199						calcium ion binding|calcium-dependent phospholipid binding	g.chr4:169060678T>G	AJ238979	CCDS34096.1	4q32.3	2008-02-05			ENSG00000109511	ENSG00000109511		"Annexins"	534	protein-coding gene	gene with protein product		608008				10458909	Standard	NM_007193		Approved	ANX14	uc003irm.3	Q9UJ72	OTTHUMG00000161275	ENST00000359299.3:c.142T>G	4.37:g.169060678T>G	ENSP00000352248:p.Cys48Gly						p.C48G	NM_007193.4	NP_009124.2	Q9UJ72	ANX10_HUMAN		GBM - Glioblastoma multiforme(119;0.0325)	3	328	+		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)	48					Q96IQ5|Q9UJV4	Missense_Mutation	SNP	ENST00000359299.3	37	c.142T>G	CCDS34096.1	.	.	.	.	.	.	.	.	.	.	T	6.834	0.523061	0.13066	.	.	ENSG00000109511	ENST00000359299;ENST00000393751	T	0.03212	4.01	5.82	3.22	0.36961	.	0.276731	0.35838	N	0.002954	T	0.03095	0.0091	N	0.17379	0.485	0.31060	N	0.714283	B	0.27910	0.193	B	0.31442	0.13	T	0.17806	-1.0357	10	0.48119	T	0.1	.	9.9819	0.41819	0.4986:0.0:0.0:0.5014	.	48	Q9UJ72	ANX10_HUMAN	G	48	ENSP00000352248:C48G	ENSP00000352248:C48G	C	+	1	0	ANXA10	169297253	0.997000	0.39634	0.650000	0.29550	0.017000	0.09413	0.965000	0.29319	0.374000	0.24650	0.533000	0.62120	TGC		0.413	ANXA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364348.2	NM_007193		23	20	0	0	0	1	0	23	20					G	169060678	T	G	169060678	3	3	326	1	0	0	0	0	1	0	0	0	715	1580	55	5	152	5	ANXA10	4	169060678	Missense_Mutation	SNP	T	TCGA-KK-A7AZ-01A-12D-A32B-08	91976148	169060678	22093598	12	16671											
SLC9A3	6550	broad.mit.edu	37	chr5	482774	482774	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agggcaaaggccacggccccGcgcaggcccccgtaggacag	9	1	15	16	4	0	0	0	0	0	0	0	1	0	1	5	5	0	3	5	5	2	1	rs143761751		TCGA-KK-A7AZ-01A-12D-A32B-08	TCGA-KK-A7AZ-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f1c7f2a-40c5-45f3-8d16-a57db576d7a8	264de6e7-6977-404f-94eb-1bfbedd5a1e7	g.chr5:482774G>A	ENST00000264938.3	-	7	1254	c.1245C>T	c.(1243-1245)cgC>cgT	p.R415R	SLC9A3_ENST00000514375.1_Silent_p.R415R|CTD-2228K2.7_ENST00000607005.1_RNA|CTD-2228K2.7_ENST00000606288.1_RNA|CTD-2228K2.7_ENST00000607286.1_RNA	NM_004174.2	NP_004165.2	P48764	SL9A3_HUMAN	solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3	415					ion transport (GO:0006811)|regulation of pH (GO:0006885)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border (GO:0005903)|brush border membrane (GO:0031526)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	PDZ domain binding (GO:0030165)|sodium:proton antiporter activity (GO:0015385)	p.R415R(2)		NS(2)|biliary_tract(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(16)|prostate(3)|skin(2)|urinary_tract(1)	37			Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)			CCACGGCCCCGCGCAGGCCCC	0.612																																						ENST00000264938.3																			2	Substitution - coding silent(2)	p.R415R(2)	lung(2)	NS(2)|biliary_tract(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(16)|prostate(3)|skin(2)|urinary_tract(1)	37						c.(1243-1245)cgC>cgT		solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3		G		2,4402	4.2+/-10.8	0,2,2200	45	45	45		1245	-8.3	0.4	5	dbSNP_134	45	0,8600		0,0,4300	no	coding-synonymous	SLC9A3	NM_004174.2		0,2,6500	AA,AG,GG		0.0,0.0454,0.0154		415/835	482774	2,13002	2202	4300	6502	SO:0001819	synonymous_variant	6550					cell surface|integral to membrane	sodium:hydrogen antiporter activity	g.chr5:482774G>A		CCDS3855.1, CCDS64116.1	5p15.3	2013-05-22	2012-03-22		ENSG00000066230	ENSG00000066230		"Solute carriers"	11073	protein-coding gene	gene with protein product		182307	"solute carrier family 9 (sodium/hydrogen exchanger), isoform 3", "solute carrier family 9 (sodium/hydrogen exchanger), member 3"	NHE3		8096830	Standard	NM_004174		Approved		uc003jbe.2	P48764	OTTHUMG00000090315	ENST00000264938.3:c.1245C>T	5.37:g.482774G>A						SLC9A3_ENST00000514375.1_Silent_p.R415R	p.R415R	NM_004174.2	NP_004165.2	P48764	SL9A3_HUMAN	Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)		7	1254	-			415					B7ZKR2|E9PF67|Q3MIW3	Silent	SNP	ENST00000264938.3	37	c.1245C>T	CCDS3855.1																																																																																				0.612	SLC9A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206677.2	NM_004174		9	16	0	0	0	1	0	9	16					A	482774	G	A	482774	2	1	326	1	0	0	0	0	0	0	0	1	14713	1074	38	1		1	SLC9A3	5	482774	Silent	SNP	G	TCGA-KK-A7AZ-01A-12D-A32B-08		482774	180432486	13	16672											
CD180	4064	broad.mit.edu	37	chr5	66480267	66480267	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	actcgagattggatattcccGtttggattaagaaaagatgc	13	12	10	6	2	0	3	0	0	0	3	2	6	1	5	1	2	1	1	1	2	4	5	rs372829866		TCGA-KK-A7AZ-01A-12D-A32B-08	TCGA-KK-A7AZ-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f1c7f2a-40c5-45f3-8d16-a57db576d7a8	264de6e7-6977-404f-94eb-1bfbedd5a1e7	g.chr5:66480267G>A	ENST00000256447.4	-	3	561	c.404C>T	c.(403-405)aCg>aTg	p.T135M		NM_005582.2	NP_005573.2	Q99467	CD180_HUMAN	CD180 molecule	135					B cell proliferation involved in immune response (GO:0002322)|cellular response to lipopolysaccharide (GO:0071222)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of lipopolysaccharide-mediated signaling pathway (GO:0031666)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				cervix(1)|endometrium(2)|kidney(7)|large_intestine(12)|liver(1)|lung(8)|ovary(1)|stomach(2)	34		Lung NSC(167;4.94e-05)|Prostate(74;0.00601)|Ovarian(174;0.0654)|Breast(144;0.198)|Colorectal(97;0.234)		Lung(70;0.0046)		GGATATTCCCGTTTGGATTAA	0.403																																						ENST00000256447.4																			0				cervix(1)|endometrium(2)|kidney(7)|large_intestine(12)|liver(1)|lung(8)|ovary(1)|stomach(2)	34						c.(403-405)aCg>aTg		CD180 molecule							168	166	166					5																	66480267		2203	4300	6503	SO:0001583	missense	4064				inflammatory response|innate immune response	integral to membrane|plasma membrane	receptor activity	g.chr5:66480267G>A	D83597	CCDS3992.1	5q12	2008-02-05	2006-03-28	2005-06-07	ENSG00000134061	ENSG00000134061		"CD molecules"	6726	protein-coding gene	gene with protein product		602226	"lymphocyte antigen 64 (mouse) homolog, radioprotective, 105kD", "CD180 antigen"	LY64		9763566, 8975706	Standard	NM_005582		Approved	RP105, Ly78	uc003juy.2	Q99467	OTTHUMG00000131229	ENST00000256447.4:c.404C>T	5.37:g.66480267G>A	ENSP00000256447:p.Thr135Met						p.T135M	NM_005582.2	NP_005573.2	Q99467	CD180_HUMAN		Lung(70;0.0046)	3	561	-		Lung NSC(167;4.94e-05)|Prostate(74;0.00601)|Ovarian(174;0.0654)|Breast(144;0.198)|Colorectal(97;0.234)	135					B2R7Z7|Q32MM5	Missense_Mutation	SNP	ENST00000256447.4	37	c.404C>T	CCDS3992.1	.	.	.	.	.	.	.	.	.	.	G	19.50	3.840170	0.71488	.	.	ENSG00000134061	ENST00000256447	T	0.59083	0.29	5.92	5.92	0.95590	.	0.077805	0.53938	D	0.000049	T	0.73536	0.3599	M	0.65975	2.015	0.44762	D	0.997764	D	0.89917	1.0	D	0.97110	1.0	T	0.74904	-0.3505	10	0.72032	D	0.01	.	13.5147	0.61533	0.071:0.0:0.929:0.0	.	135	Q99467	CD180_HUMAN	M	135	ENSP00000256447:T135M	ENSP00000256447:T135M	T	-	2	0	CD180	66516023	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	2.656000	0.46716	2.818000	0.97014	0.655000	0.94253	ACG		0.403	CD180-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253973.2	NM_005582		95	139	0	0	0	1	0	95	139					A	66480267	G	A	66480267	3	1	326	1	0	0	0	0	1	0	0	0	2972	1145	40	1	1585	1	CD180	5	66480267	Missense_Mutation	SNP	G	TCGA-KK-A7AZ-01A-12D-A32B-08	65997493	66480267	114434993	14	16673											
FAM172A	83989	broad.mit.edu	37	chr5	92956791	92956791	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttcggtaaagaatttgaaaaTagacggaaagctcttccagg	15	10	10	6	2	1	3	0	1	1	2	3	4	2	4	1	3	1	2	1	3	7	5			TCGA-KK-A7AZ-01A-12D-A32B-08	TCGA-KK-A7AZ-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f1c7f2a-40c5-45f3-8d16-a57db576d7a8	264de6e7-6977-404f-94eb-1bfbedd5a1e7	g.chr5:92956791T>G	ENST00000395965.3	-	11	1295	c.1153A>C	c.(1153-1155)Att>Ctt	p.I385L	FAM172A_ENST00000509163.1_Missense_Mutation_p.I339L|FAM172A_ENST00000505869.1_Missense_Mutation_p.I275L|MIR2277_ENST00000515916.1_RNA|FAM172A_ENST00000509739.1_Missense_Mutation_p.I238L	NM_032042.5	NP_114431.2	Q8WUF8	F172A_HUMAN	family with sequence similarity 172, member A	385						endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)				endometrium(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)	9						AATTTGAAAATAGACGGAAAG	0.577																																						ENST00000395965.3																			0				endometrium(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)	9						c.(1153-1155)Att>Ctt		family with sequence similarity 172, member A							60	62	62					5																	92956791		2203	4300	6503	SO:0001583	missense	83989					endoplasmic reticulum|extracellular region		g.chr5:92956791T>G		CCDS4069.1, CCDS54879.1, CCDS54880.1	5q15	2008-06-16	2008-06-16	2008-06-16	ENSG00000113391	ENSG00000113391			25365	protein-coding gene	gene with protein product			"chromosome 5 open reading frame 21"	C5orf21		11230166	Standard	NM_032042		Approved	DKFZP564D172	uc010jbd.3	Q8WUF8	OTTHUMG00000131329	ENST00000395965.3:c.1153A>C	5.37:g.92956791T>G	ENSP00000379294:p.Ile385Leu					FAM172A_ENST00000505869.1_Missense_Mutation_p.I275L|FAM172A_ENST00000509739.1_Missense_Mutation_p.I238L|FAM172A_ENST00000509163.1_Missense_Mutation_p.I339L	p.I385L	NM_032042.5	NP_114431.2	Q8WUF8	F172A_HUMAN			11	1295	-			385					B2R7C6|B4DJ14|B4DLG5|Q9H0U8	Missense_Mutation	SNP	ENST00000395965.3	37	c.1153A>C	CCDS4069.1	.	.	.	.	.	.	.	.	.	.	T	15.53	2.860687	0.51482	.	.	ENSG00000113391	ENST00000395965;ENST00000505869;ENST00000509739;ENST00000509163	T;T	0.57752	0.38;0.4	3.3	3.3	0.37823	.	0.241923	0.33161	N	0.005208	T	0.40067	0.1102	L	0.42529	1.33	0.50632	D	0.999881	B;B;B	0.30584	0.194;0.194;0.286	B;B;B	0.28553	0.038;0.091;0.071	T	0.30621	-0.9972	10	0.38643	T	0.18	-13.3264	7.9391	0.29948	0.0:0.1068:0.0:0.8932	.	238;275;385	B4DMI0;B4DJ14;Q8WUF8	.;.;F172A_HUMAN	L	385;275;238;339	ENSP00000379294:I385L;ENSP00000423841:I339L	ENSP00000379294:I385L	I	-	1	0	FAM172A	92982547	1.000000	0.71417	0.999000	0.59377	0.969000	0.65631	3.916000	0.56416	1.488000	0.48433	0.397000	0.26171	ATT		0.577	FAM172A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254100.3	NM_032042		22	34	0	0	0	1	0	22	34					G	92956791	T	G	92956791	3	3	326	1	0	0	0	0	1	0	0	0	5492	1406	49	5	101	5	FAM172A	5	92956791	Missense_Mutation	SNP	T	TCGA-KK-A7AZ-01A-12D-A32B-08	26476524	92956791	87958469	15	16674											
PPP2CA	5515	broad.mit.edu	37	chr5	133536761	133536761	+	Frame_Shift_Del	DEL	A	A	-																															agagaccaccatgtagacagAagatctgaaaagagtggttt																										TCGA-KK-A7AZ-01A-12D-A32B-08	TCGA-KK-A7AZ-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f1c7f2a-40c5-45f3-8d16-a57db576d7a8	264de6e7-6977-404f-94eb-1bfbedd5a1e7	g.chr5:133536761delA	ENST00000481195.1	-	4	771	c.491delT	c.(490-492)ttcfs	p.F164fs	PPP2CA_ENST00000231504.5_5'Flank|CTD-2410N18.5_ENST00000519718.1_Intron	NM_002715.2	NP_002706.1	P67775	PP2AA_HUMAN	protein phosphatase 2, catalytic subunit, alpha isozyme	164					apoptotic process (GO:0006915)|ceramide metabolic process (GO:0006672)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|inactivation of MAPK activity (GO:0000188)|meiotic nuclear division (GO:0007126)|mesoderm development (GO:0007498)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope reassembly (GO:0007084)|mRNA metabolic process (GO:0016071)|negative regulation of cell growth (GO:0030308)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of tyrosine phosphorylation of Stat3 protein (GO:0042518)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|protein dephosphorylation (GO:0006470)|protein heterotrimerization (GO:0070208)|regulation of cell adhesion (GO:0030155)|regulation of cell differentiation (GO:0045595)|regulation of DNA replication (GO:0006275)|regulation of growth (GO:0040008)|regulation of protein autophosphorylation (GO:0031952)|regulation of protein catabolic process (GO:0042176)|regulation of receptor activity (GO:0010469)|regulation of transcription, DNA-templated (GO:0006355)|regulation of Wnt signaling pathway (GO:0030111)|response to organic substance (GO:0010033)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|second-messenger-mediated signaling (GO:0019932)	chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein phosphatase type 2A complex (GO:0000159)	metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)			endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|skin(1)	12			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		Vitamin E(DB00163)	ATGTAGACAGAAGATCTGAAA	0.423																																						ENST00000481195.1																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|skin(1)	12						c.(490-492)tcfs		protein phosphatase 2, catalytic subunit, alpha isozyme							97	95	96					5																	133536761		2203	4300	6503	SO:0001589	frameshift_variant	5515							g.chr5:133536761delA		CCDS4173.1	5q31.1	2013-01-24	2010-03-05		ENSG00000113575	ENSG00000113575	3.1.3.16	"Serine/threonine phosphatases / Protein phosphatase, catalytic subunits"	9299	protein-coding gene	gene with protein product	"protein phosphatase 2A catalytic subunit, alpha isoform"	176915	"protein phosphatase 2 (formerly 2A), catalytic subunit, alpha isoform"			8383590	Standard	NM_002715		Approved	PP2Calpha		P67775	OTTHUMG00000129119	ENST00000481195.1:c.491delT	5.37:g.133536761delA	ENSP00000418447:p.Phe164fs						p.F164fs	NM_002715.2	NP_002706.1			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		4	771	-								P05323|P13197	Frame_Shift_Del	DEL	ENST00000481195.1	37	c.491delT	CCDS4173.1																																																																																				0.423	PPP2CA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251165.1	NM_002715		50	73						50	73	---	---	---	---	-	133536761	A	-	133536761	7	5	326	1	0	1	0	1	0	0	0	0	12380	246	9	0	454	0	PPP2CA	5	133536761	Frame_Shift_Del	DEL	A	TCGA-KK-A7AZ-01A-12D-A32B-08	40579970	133536761	47378499	16	16675											
DSP	1832	broad.mit.edu	37	chr6	7578701	7578701	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cttccttttctccaaggctgCagatgttcatgctcggtaca	7	14	8	12	1	2	1	1	0	1	1	5	1	3	1	2	2	3	5	2	2	2	5			TCGA-KK-A7AZ-01A-12D-A32B-08	TCGA-KK-A7AZ-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f1c7f2a-40c5-45f3-8d16-a57db576d7a8	264de6e7-6977-404f-94eb-1bfbedd5a1e7	g.chr6:7578701C>T	ENST00000379802.3	+	22	3331	c.2990C>T	c.(2989-2991)gCa>gTa	p.A997V	DSP_ENST00000418664.2_Missense_Mutation_p.A997V	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	997	Globular 1.				adherens junction organization (GO:0034332)|apoptotic process (GO:0006915)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|desmosome organization (GO:0002934)|epidermis development (GO:0008544)|intermediate filament organization (GO:0045109)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)|protein localization to adherens junction (GO:0071896)|regulation of heart rate by cardiac conduction (GO:0086091)|single organismal cell-cell adhesion (GO:0016337)|ventricular cardiac muscle cell action potential (GO:0086005)|ventricular compact myocardium morphogenesis (GO:0003223)|wound healing (GO:0042060)	basolateral plasma membrane (GO:0016323)|cornified envelope (GO:0001533)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intercalated disc (GO:0014704)|intermediate filament (GO:0005882)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|protein binding, bridging (GO:0030674)|protein kinase C binding (GO:0005080)|scaffold protein binding (GO:0097110)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		TCCAAGGCTGCAGATGTTCAT	0.333																																						ENST00000379802.3																			0				biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101						c.(2989-2991)gCa>gTa		desmoplakin							118	120	120					6																	7578701		2203	4300	6503	SO:0001583	missense	1832				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton	g.chr6:7578701C>T	J05211	CCDS4501.1, CCDS47368.1	6p24.3	2014-09-17	2003-05-20		ENSG00000096696	ENSG00000096696			3052	protein-coding gene	gene with protein product		125647	"desmoplakin (DPI, DPII)"			1889810	Standard	NM_004415		Approved	KPPS2, PPKS2, DPI, DPII	uc003mxp.1	P15924	OTTHUMG00000014212	ENST00000379802.3:c.2990C>T	6.37:g.7578701C>T	ENSP00000369129:p.Ala997Val					DSP_ENST00000418664.2_Missense_Mutation_p.A997V	p.A997V	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN		OV - Ovarian serous cystadenocarcinoma(45;0.000508)	22	3331	+	Ovarian(93;0.0584)	all_hematologic(90;0.236)	997			Globular 1.		B2RTT2|D7RX09|O75993|Q14189|Q9UHN4	Missense_Mutation	SNP	ENST00000379802.3	37	c.2990C>T	CCDS4501.1	.	.	.	.	.	.	.	.	.	.	C	7.150	0.583490	0.13749	.	.	ENSG00000096696	ENST00000379802;ENST00000418664;ENST00000397483	D;D	0.94793	-3.52;-3.52	5.07	4.17	0.49024	.	0.370332	0.23053	N	0.052471	T	0.79287	0.4420	N	0.19112	0.55	0.30917	N	0.72849	B;B	0.33694	0.421;0.281	B;B	0.26969	0.075;0.075	T	0.70773	-0.4781	10	0.27785	T	0.31	.	10.9688	0.47428	0.1338:0.6073:0.2589:0.0	.	1044;997	Q4LE79;P15924	.;DESP_HUMAN	V	997;997;802	ENSP00000369129:A997V;ENSP00000396591:A997V	ENSP00000369129:A997V	A	+	2	0	DSP	7523700	0.989000	0.36119	1.000000	0.80357	0.932000	0.56968	1.570000	0.36439	1.089000	0.41292	0.655000	0.94253	GCA		0.333	DSP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039786.2	NM_004415		10	103	0	0	0	1	0	10	103					T	7578701	C	T	7578701	3	4	326	1	0	0	0	0	1	0	0	0	4781	710	25	3	3076	3	DSP	6	7578701	Missense_Mutation	SNP	C	TCGA-KK-A7AZ-01A-12D-A32B-08		7578701	163536366	17	16676											
HIST1H4D	8360	broad.mit.edu	37	chr6	26189197	26189197	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ccgccgcggcgagccaggcgGcggatagcgggcttggtgat	5	5	19	12	7	0	1	0	1	0	0	0	3	0	2	3	6	2	1	3	6	1	2			TCGA-KK-A7AZ-01A-12D-A32B-08	TCGA-KK-A7AZ-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f1c7f2a-40c5-45f3-8d16-a57db576d7a8	264de6e7-6977-404f-94eb-1bfbedd5a1e7	g.chr6:26189197G>A	ENST00000340756.2	-	1	107	c.108C>T	c.(106-108)cgC>cgT	p.R36R		NM_003539.3	NP_003530.1	P62805	H4_HUMAN	histone cluster 1, H4d	36					CENP-A containing nucleosome assembly (GO:0034080)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|histone H4-K20 demethylation (GO:0035574)|mitotic cell cycle (GO:0000278)|negative regulation of megakaryocyte differentiation (GO:0045653)|nucleosome assembly (GO:0006334)|telomere maintenance (GO:0000723)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|histone demethylase activity (H4-K20 specific) (GO:0035575)|poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(2)|large_intestine(2)|lung(1)|prostate(1)	8		all_hematologic(11;0.196)				GAGCCAGGCGGCGGATAGCGG	0.567																																						ENST00000340756.2																			0				breast(2)|endometrium(2)|large_intestine(2)|lung(1)|prostate(1)	8						c.(106-108)cgC>cgT		histone cluster 1, H4d							38	43	41					6																	26189197		2203	4300	6503	SO:0001819	synonymous_variant	8360				CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding	g.chr6:26189197G>A	X60482	CCDS4589.1	6p22.1	2011-01-27	2006-10-11	2003-02-21	ENSG00000188987	ENSG00000277157		"Histones / Replication-dependent"	4782	protein-coding gene	gene with protein product		602823	"H4 histone family, member B", "histone 1, H4d"	H4FB		9119399, 12408966	Standard	NM_003539		Approved	H4/b	uc003ngu.3	P62805	OTTHUMG00000014423	ENST00000340756.2:c.108C>T	6.37:g.26189197G>A							p.R36R	NM_003539.3	NP_003530.1	P62805	H4_HUMAN			1	107	-		all_hematologic(11;0.196)	36					A2VCL0|P02304|P02305|Q6DRA9|Q6FGB8|Q6NWP7	Silent	SNP	ENST00000340756.2	37	c.108C>T	CCDS4589.1																																																																																				0.567	HIST1H4D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040085.1	NM_003539		40	45	0	0	0	1	0	40	45					A	26189197	G	A	26189197	2	1	326	1	0	0	0	0	0	0	0	1	7168	1190	42	3		3	HIST1H4D	6	26189197	Silent	SNP	G	TCGA-KK-A7AZ-01A-12D-A32B-08	18610496	26189197	144925870	18	16677											
MUC17	140453	broad.mit.edu	37	chr7	100682921	100682921	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctgctgaaggtaccagcatgCgaatctcaactcctagtgat	11	10	9	11	1	1	2	1	2	1	0	3	3	2	2	2	1	5	3	2	1	5	2	rs148241944	byFrequency	TCGA-KK-A7AZ-01A-12D-A32B-08	TCGA-KK-A7AZ-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f1c7f2a-40c5-45f3-8d16-a57db576d7a8	264de6e7-6977-404f-94eb-1bfbedd5a1e7	g.chr7:100682921C>T	ENST00000306151.4	+	3	8288	c.8224C>T	c.(8224-8226)Cga>Tga	p.R2742*		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	2742	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					TACCAGCATGCGAATCTCAAC	0.502																																						ENST00000306151.4																			0				NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343						c.(8224-8226)Cga>Tga		mucin 17, cell surface associated		C	stop/ARG	0,4406		0,0,2203	257	253	254		8224	-1	0	7	dbSNP_134	254	1,8599		0,1,4299	no	stop-gained	MUC17	NM_001040105.1		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		2742/4494	100682921	1,13005	2203	4300	6503	SO:0001587	stop_gained	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100682921C>T	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"Mucins"	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.8224C>T	7.37:g.100682921C>T	ENSP00000302716:p.Arg2742*						p.R2742*	NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN			3	8288	+	Lung NSC(181;0.136)|all_lung(186;0.182)		2742			59 X approximate tandem repeats.|Ser-rich.		O14761|Q685J2|Q8TDH7	Nonsense_Mutation	SNP	ENST00000306151.4	37	c.8224C>T	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	C	46	12.608856	0.99682	0.0	1.16E-4	ENSG00000169876	ENST00000306151	.	.	.	0.671	-0.96	0.10340	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.10902	T	0.67	.	2.4218	0.04450	0.0:0.383:0.3077:0.3093	.	.	.	.	X	2742	.	ENSP00000302716:R2742X	R	+	1	2	MUC17	100469641	0.000000	0.05858	0.000000	0.03702	0.014000	0.08584	-0.959000	0.03853	-0.358000	0.08162	0.134000	0.15878	CGA		0.502	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		6	448	0	0	0	1	0	6	448					T	100682921	C	T	100682921	4	4	326	1	0	0	0	0	0	1	0	0	9974	760	27	1	8234	1	MUC17	7	100682921	Nonsense_Mutation	SNP	C	TCGA-KK-A7AZ-01A-12D-A32B-08		100682921	58455742	19	16678											
TG	7038	broad.mit.edu	37	chr8	133980108	133980108	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgcatccttgtacttcacctGcaccctctacccagaggcac	8	10	6	17	0	2	1	1	0	1	1	3	1	3	1	4	1	4	4	4	1	2	4			TCGA-KK-A7AZ-01A-12D-A32B-08	TCGA-KK-A7AZ-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f1c7f2a-40c5-45f3-8d16-a57db576d7a8	264de6e7-6977-404f-94eb-1bfbedd5a1e7	g.chr8:133980108G>A	ENST00000220616.4	+	31	5796	c.5756G>A	c.(5755-5757)tGc>tAc	p.C1919Y	TG_ENST00000542445.1_Missense_Mutation_p.C289Y|TG_ENST00000519543.1_Missense_Mutation_p.C73Y|TG_ENST00000377869.1_Missense_Mutation_p.C1862Y	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	1919					hormone biosynthetic process (GO:0042446)|iodide transport (GO:0015705)|regulation of myelination (GO:0031641)|signal transduction (GO:0007165)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular region (GO:0005576)|extracellular space (GO:0005615)				NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		TACTTCACCTGCACCCTCTAC	0.527																																						ENST00000220616.4																			0				NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168						c.(5755-5757)tGc>tAc		thyroglobulin							90	71	77					8																	133980108		2203	4300	6503	SO:0001583	missense	7038				hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity	g.chr8:133980108G>A	AU141420	CCDS34944.1	8q24	2012-10-02			ENSG00000042832	ENSG00000042832			11764	protein-coding gene	gene with protein product		188450					Standard	NM_003235		Approved	TGN, AITD3	uc003ytw.3	P01266	OTTHUMG00000164649	ENST00000220616.4:c.5756G>A	8.37:g.133980108G>A	ENSP00000220616:p.Cys1919Tyr					TG_ENST00000519543.1_Missense_Mutation_p.C73Y|TG_ENST00000377869.1_Missense_Mutation_p.C1862Y|TG_ENST00000542445.1_Missense_Mutation_p.C289Y	p.C1919Y	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)	31	5796	+	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	1919					O15274|O43899|Q15593|Q15948|Q9NYR1|Q9NYR2|Q9UMZ0|Q9UNY3	Missense_Mutation	SNP	ENST00000220616.4	37	c.5756G>A	CCDS34944.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.00|19.00	3.742229|3.742229	0.69418|0.69418	.|.	.|.	ENSG00000042832|ENSG00000042832	ENST00000518058|ENST00000377869;ENST00000543313;ENST00000220616;ENST00000542445;ENST00000519543	.|T;T;T;T	.|0.80480	.|-1.07;-1.19;-1.27;-1.38	5.87|5.87	5.87|5.87	0.94306|0.94306	.|.	.|1.681680	.|0.02692	.|N	.|0.110752	D|D	0.91825|0.91825	0.7413|0.7413	M|M	0.79475|0.79475	2.455|2.455	0.49130|0.49130	D|D	0.999759|0.999759	.|D;D;D	.|0.89917	.|1.0;1.0;1.0	.|D;D;D	.|0.91635	.|0.999;0.999;0.999	T|T	0.79200|0.79200	-0.1901|-0.1901	5|10	.|0.87932	.|D	.|0	.|.	16.0731|16.0731	0.80948|0.80948	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|73;289;1919	.|E7EVM0;F5GWW5;P01266	.|.;.;THYG_HUMAN	T|Y	51|1862;725;1919;289;73	.|ENSP00000367100:C1862Y;ENSP00000220616:C1919Y;ENSP00000441693:C289Y;ENSP00000430430:C73Y	.|ENSP00000220616:C1919Y	A|C	+|+	1|2	0|0	TG|TG	134049290|134049290	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.542000|0.542000	0.35054|0.35054	6.355000|6.355000	0.73041|0.73041	2.941000|2.941000	0.99782|0.99782	0.655000|0.655000	0.94253|0.94253	GCA|TGC		0.527	TG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379606.1	NM_003235		4	27	0	0	0	1	0	4	27					A	133980108	G	A	133980108	3	1	326	1	0	0	0	0	1	0	0	0	15810	1319	46	3	5878	3	TG	8	133980108	Missense_Mutation	SNP	G	TCGA-KK-A7AZ-01A-12D-A32B-08		133980108	12383914	20	16679											
TRPM3	80036	broad.mit.edu	37	chr9	73477945	73477945	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggatgtcatttcgggagaggCgactttcatttttctcattc	7	16	10	8	2	3	1	3	0	1	1	6	4	3	2	0	3	0	0	0	3	0	5	rs201455474		TCGA-KK-A7AZ-01A-12D-A32B-08	TCGA-KK-A7AZ-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f1c7f2a-40c5-45f3-8d16-a57db576d7a8	264de6e7-6977-404f-94eb-1bfbedd5a1e7	g.chr9:73477945C>T	ENST00000377111.2	-	3	584	c.341G>A	c.(340-342)cGc>cAc	p.R114H	TRPM3_ENST00000377097.3_5'UTR|TRPM3_ENST00000358082.3_5'Flank|TRPM3_ENST00000361823.5_5'UTR|TRPM3_ENST00000357533.2_Missense_Mutation_p.R116H|TRPM3_ENST00000396285.1_5'Flank|TRPM3_ENST00000423814.3_Missense_Mutation_p.R116H|TRPM3_ENST00000396283.1_5'UTR|TRPM3_ENST00000360823.2_5'UTR|TRPM3_ENST00000408909.2_5'Flank|TRPM3_ENST00000437699.3_5'UTR|TRPM3_ENST00000396292.4_5'Flank|TRPM3_ENST00000377106.1_5'UTR|TRPM3_ENST00000377105.1_5'UTR|TRPM3_ENST00000396280.5_5'Flank|TRPM3_ENST00000377110.3_Missense_Mutation_p.R114H|TRPM3_ENST00000377101.1_5'UTR	NM_001007471.2	NP_001007472.2	Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel, subfamily M, member 3	114					calcium ion transmembrane transport (GO:0070588)|cation transport (GO:0006812)|detection of temperature stimulus (GO:0016048)|ion transmembrane transport (GO:0034220)|sensory perception of temperature stimulus (GO:0050951)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)			NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						TCGGGAGAGGCGACTTTCATT	0.498																																						ENST00000377110.2																			0				NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						c.(340-342)cGc>cAc		transient receptor potential cation channel, subfamily M, member 3							142	151	148					9																	73477945		2203	4300	6503	SO:0001583	missense	80036					integral to membrane	calcium channel activity	g.chr9:73477945C>T	AB046836	CCDS6634.1, CCDS6635.1, CCDS6636.1, CCDS6637.1, CCDS43835.1, CCDS65064.1	9q21.11	2011-12-14			ENSG00000083067	ENSG00000083067		"Voltage-gated ion channels / Transient receptor potential cation channels"	17992	protein-coding gene	gene with protein product	"melastatin 2"	608961				16382100	Standard	NM_206946		Approved	KIAA1616, LTRPC3, GON-2	uc004aid.3	Q9HCF6	OTTHUMG00000019997	ENST00000377111.2:c.341G>A	9.37:g.73477945C>T	ENSP00000366315:p.Arg114His					TRPM3_ENST00000377106.1_5'UTR|TRPM3_ENST00000357533.2_Missense_Mutation_p.R116H|TRPM3_ENST00000377101.1_5'UTR|TRPM3_ENST00000377111.2_Missense_Mutation_p.R114H|TRPM3_ENST00000396283.1_5'UTR|TRPM3_ENST00000361823.5_5'UTR|TRPM3_ENST00000437699.3_5'UTR|TRPM3_ENST00000360823.2_5'UTR|TRPM3_ENST00000377097.3_5'UTR|TRPM3_ENST00000423814.3_Missense_Mutation_p.R116H|TRPM3_ENST00000377105.1_5'UTR	p.R114H	NM_001007471.2	NP_001007472.2	Q9HCF6	TRPM3_HUMAN			3	584	-			114					A2A3F6|A9Z1Y7|Q5VW02|Q5VW03|Q5VW04|Q5W5T7|Q86SH0|Q86SH6|Q86UL0|Q86WK1|Q86WK2|Q86WK3|Q86WK4|Q86YZ9|Q86Z00|Q86Z01|Q9H0X2	Missense_Mutation	SNP	ENST00000377111.2	37	c.341G>A		1|1	4.578754578754579E-4|4.578754578754579E-4	1|1	0.0020325203252032522|0.0020325203252032522	0|0	0.0|0.0	0|0	0.0|0.0	0|0	0.0|0.0	C|C	23.2|23.2	4.382638|4.382638	0.82792|0.82792	.|.	.|.	ENSG00000083067|ENSG00000083067	ENST00000377097|ENST00000377111;ENST00000377110;ENST00000357533;ENST00000423814	.|T;T;T;T	.|0.56444	.|0.46;0.46;0.46;0.46	5.95|5.95	5.95|5.95	0.96441|0.96441	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.65312|0.65312	0.2679|0.2679	L|L	0.34521|0.34521	1.04|1.04	0.80722|0.80722	D|D	1|1	.|B;D;B;B	.|0.76494	.|0.041;0.999;0.121;0.001	.|B;D;B;B	.|0.77004	.|0.019;0.989;0.04;0.001	T|T	0.62134|0.62134	-0.6918|-0.6918	5|10	.|0.44086	.|T	.|0.13	-1.3978|-1.3978	20.3854|20.3854	0.98941|0.98941	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|114;116;114;114	.|Q9HCF6;Q4VXD2;Q9HCF6-2;Q9HCF6-10	.|TRPM3_HUMAN;.;.;.	T|H	4|114;114;116;116	.|ENSP00000366315:R114H;ENSP00000366314:R114H;ENSP00000350140:R116H;ENSP00000389542:R116H	.|ENSP00000350140:R116H	A|R	-|-	1|2	0|0	TRPM3|TRPM3	72667765|72667765	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	5.055000|5.055000	0.64282|0.64282	2.825000|2.825000	0.97269|0.97269	0.655000|0.655000	0.94253|0.94253	GCC|CGC		0.498	TRPM3-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000214157.5	NM_206945		39	55	0	0	0	1	0	39	55					T	73477945	C	T	73477945	3	4	326	1	0	0	0	0	1	0	0	0	16584	768	27	1	4997	1	TRPM3	9	73477945	Missense_Mutation	SNP	C	TCGA-KK-A7AZ-01A-12D-A32B-08		73477945	67735486	21	16680											
PNLIP	5406	broad.mit.edu	37	chr10	118320020	118320020	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gaaataaaggaaactctaagCagtatgaaattttcaagtga	19	10	8	4	0	2	2	1	2	1	0	2	4	2	3	0	1	2	2	0	1	8	5			TCGA-KK-A7AZ-01A-12D-A32B-08	TCGA-KK-A7AZ-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f1c7f2a-40c5-45f3-8d16-a57db576d7a8	264de6e7-6977-404f-94eb-1bfbedd5a1e7	g.chr10:118320020C>T	ENST00000369221.2	+	11	1181	c.1153C>T	c.(1153-1155)Cag>Tag	p.Q385*		NM_000936.2	NP_000927.1	P16233	LIPP_HUMAN	pancreatic lipase	385	PLAT. {ECO:0000255|PROSITE- ProRule:PRU00152}.				intestinal cholesterol absorption (GO:0030299)|lipid catabolic process (GO:0016042)|lipid digestion (GO:0044241)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)	metal ion binding (GO:0046872)|triglyceride lipase activity (GO:0004806)			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	43				all cancers(201;0.0131)	Glycerol Phenylbutyrate(DB08909)|Orlistat(DB01083)	AAACTCTAAGCAGTATGAAAT	0.383																																						ENST00000369221.2																			0				central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	43						c.(1153-1155)Cag>Tag		pancreatic lipase	Bentiromide(DB00522)|Orlistat(DB01083)						75	76	76					10																	118320020		2203	4300	6503	SO:0001587	stop_gained	5406				lipid catabolic process|retinoid metabolic process|steroid metabolic process	extracellular region	retinyl-palmitate esterase activity|triglyceride lipase activity	g.chr10:118320020C>T	BC014309	CCDS7594.1	10q25.3	2012-07-31			ENSG00000175535	ENSG00000175535	3.1.1.3		9155	protein-coding gene	gene with protein product		246600				1783385	Standard	NM_000936		Approved	PL	uc001lcm.3	P16233	OTTHUMG00000019103	ENST00000369221.2:c.1153C>T	10.37:g.118320020C>T	ENSP00000358223:p.Gln385*						p.Q385*	NM_000936.2	NP_000927.1	P16233	LIPP_HUMAN		all cancers(201;0.0131)	11	1181	+			385			PLAT.		Q5VSQ2	Nonsense_Mutation	SNP	ENST00000369221.2	37	c.1153C>T	CCDS7594.1	.	.	.	.	.	.	.	.	.	.	C	37	6.228268	0.97394	.	.	ENSG00000175535	ENST00000369221	.	.	.	5.9	5.9	0.94986	.	0.000000	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.19147	T	0.46	.	17.1989	0.86901	0.0:1.0:0.0:0.0	.	.	.	.	X	385	.	ENSP00000358223:Q385X	Q	+	1	0	PNLIP	118310010	0.999000	0.42202	1.000000	0.80357	0.994000	0.84299	3.448000	0.52943	2.806000	0.96561	0.655000	0.94253	CAG		0.383	PNLIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050524.1	NM_000936		24	31	0	0	0	1	0	24	31					T	118320020	C	T	118320020	4	4	326	1	0	0	0	0	0	1	0	0	12149	711	25	3	1191	3	PNLIP	10	118320020	Nonsense_Mutation	SNP	C	TCGA-KK-A7AZ-01A-12D-A32B-08		118320020	17214727	22	16681											
AMBRA1	55626	broad.mit.edu	37	chr11	46515257	46515257	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtactcaggcagcaagaaacGcctacaagaaggaatcacat	17	5	9	10	1	2	2	2	0	0	2	2	3	2	3	1	2	4	3	1	2	7	2			TCGA-KK-A7AZ-01A-12D-A32B-08	TCGA-KK-A7AZ-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f1c7f2a-40c5-45f3-8d16-a57db576d7a8	264de6e7-6977-404f-94eb-1bfbedd5a1e7	g.chr11:46515257G>A	ENST00000458649.2	-	11	2840	c.2422C>T	c.(2422-2424)Cgt>Tgt	p.R808C	AMBRA1_ENST00000529963.1_5'UTR|AMBRA1_ENST00000314845.3_Splice_Site_p.R718C|AMBRA1_ENST00000528950.1_Splice_Site_p.R779C|AMBRA1_ENST00000426438.1_Splice_Site_p.R779C|AMBRA1_ENST00000533727.1_Splice_Site_p.R689C|AMBRA1_ENST00000534300.1_Splice_Site_p.R748C|AMBRA1_ENST00000298834.3_Splice_Site_p.R748C			Q9C0C7	AMRA1_HUMAN	autophagy/beclin-1 regulator 1	808					autophagy (GO:0006914)|cell differentiation (GO:0030154)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron apoptotic process (GO:0043524)|neural tube development (GO:0021915)	axoneme (GO:0005930)|cytoplasm (GO:0005737)|phagocytic vesicle (GO:0045335)				NS(1)|breast(3)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	39				GBM - Glioblastoma multiforme(35;0.0435)|Lung(87;0.182)		AGCAAGAAACGCCTACAAGAA	0.468																																						ENST00000458649.2																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	39						c.e11-1		autophagy/beclin-1 regulator 1							80	68	72					11																	46515257		2201	4299	6500	SO:0001630	splice_region_variant	55626				autophagy|cell differentiation|nervous system development	autophagic vacuole|cytoplasmic vesicle		g.chr11:46515257G>A	AB051523	CCDS31475.1, CCDS58132.1, CCDS73281.1	11p11.2	2013-01-09			ENSG00000110497	ENSG00000110497		"WD repeat domain containing", "DDB1 and CUL4 associated factors"	25990	protein-coding gene	gene with protein product	"WD repeat domain 94", "DDB1 and CUL4 associated factor 3"	611359				17622796, 17603510, 17589504	Standard	NM_001267782		Approved	FLJ20294, KIAA1736, WDR94, DCAF3	uc001ncv.3	Q9C0C7	OTTHUMG00000166500	ENST00000458649.2:c.2421-1C>T	11.37:g.46515257G>A						AMBRA1_ENST00000426438.1_Splice_Site_p.R779_splice|AMBRA1_ENST00000528950.1_Splice_Site_p.R779_splice|AMBRA1_ENST00000534300.1_Splice_Site_p.R748_splice|AMBRA1_ENST00000533727.1_Splice_Site_p.R689_splice|AMBRA1_ENST00000298834.3_Splice_Site_p.R748_splice|AMBRA1_ENST00000314845.3_Splice_Site_p.R718_splice|AMBRA1_ENST00000529963.1_5'UTR	p.R808_splice			Q9C0C7	AMRA1_HUMAN		GBM - Glioblastoma multiforme(35;0.0435)|Lung(87;0.182)	11	2840	-			808					A6XN33|D3DQP8|G3V193|Q86XD6|Q9H8Z0|Q9NXE7	Splice_Site	SNP	ENST00000458649.2	37	c.2420_splice		.	.	.	.	.	.	.	.	.	.	G	21.2	4.106688	0.77096	.	.	ENSG00000110497	ENST00000314845;ENST00000533727;ENST00000534300;ENST00000426438;ENST00000298834;ENST00000458649;ENST00000528950	D;D;D;D;D;D;D	0.93076	-3.16;-3.16;-3.16;-3.16;-3.16;-3.16;-3.16	4.98	4.98	0.66077	.	0.000000	0.85682	D	0.000000	D	0.93963	0.8067	L	0.29908	0.895	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.85130	0.996;0.996;0.996;0.996;0.997;0.996	D	0.94483	0.7695	10	0.87932	D	0	.	13.5871	0.61937	0.0:0.0:0.8446:0.1554	.	808;779;748;689;811;718	Q9C0C7;Q9C0C7-3;Q9C0C7-2;G3V193;Q9C0C7-5;Q9C0C7-4	AMRA1_HUMAN;.;.;.;.;.	C	718;689;748;779;748;808;779	ENSP00000318313:R718C;ENSP00000433372:R689C;ENSP00000431926:R748C;ENSP00000410899:R779C;ENSP00000298834:R748C;ENSP00000415327:R808C;ENSP00000433945:R779C	ENSP00000298834:R748C	R	-	1	0	AMBRA1	46471833	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.945000	0.70226	2.474000	0.83562	0.655000	0.94253	CGT		0.468	AMBRA1-005	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000390103.1	NM_017749	Missense_Mutation	9	8	0	0	0	1	0	9	8					A	46515257	G	A	46515257	5	1	326	1	0	0	0	0	0	0	1	0	565	1101	38	1	1506	1	AMBRA1	11	46515257	Splice_Site	SNP	G	TCGA-KK-A7AZ-01A-12D-A32B-08		46515257	88491259	23	16682											
AMBRA1	55626	broad.mit.edu	37	chr11	46564154	46564155	+	Frame_Shift_Ins	INS	-	-	C																															ccaaccctgatgccggaaaaINScccctcccttctgtggctga																										TCGA-KK-A7AZ-01A-12D-A32B-08	TCGA-KK-A7AZ-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f1c7f2a-40c5-45f3-8d16-a57db576d7a8	264de6e7-6977-404f-94eb-1bfbedd5a1e7	g.chr11:46564154_46564155insC	ENST00000458649.2	-	7	1830_1831	c.1412_1413insG	c.(1411-1413)ggtfs	p.G471fs	AMBRA1_ENST00000314845.3_Frame_Shift_Ins_p.G381fs|AMBRA1_ENST00000528950.1_Frame_Shift_Ins_p.G471fs|AMBRA1_ENST00000426438.1_Frame_Shift_Ins_p.G471fs|AMBRA1_ENST00000533727.1_Frame_Shift_Ins_p.G381fs|AMBRA1_ENST00000534300.1_Frame_Shift_Ins_p.G471fs|AMBRA1_ENST00000298834.3_Frame_Shift_Ins_p.G471fs			Q9C0C7	AMRA1_HUMAN	autophagy/beclin-1 regulator 1	471					autophagy (GO:0006914)|cell differentiation (GO:0030154)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron apoptotic process (GO:0043524)|neural tube development (GO:0021915)	axoneme (GO:0005930)|cytoplasm (GO:0005737)|phagocytic vesicle (GO:0045335)				NS(1)|breast(3)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	39				GBM - Glioblastoma multiforme(35;0.0435)|Lung(87;0.182)		ATGCCGGAAAACCCCTCCCTTC	0.559																																						ENST00000458649.2																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	39						c.(1411-1413)gttfs		autophagy/beclin-1 regulator 1																																				SO:0001589	frameshift_variant	55626				autophagy|cell differentiation|nervous system development	autophagic vacuole|cytoplasmic vesicle		g.chr11:46564154_46564155insC	AB051523	CCDS31475.1, CCDS58132.1, CCDS73281.1	11p11.2	2013-01-09			ENSG00000110497	ENSG00000110497		"WD repeat domain containing", "DDB1 and CUL4 associated factors"	25990	protein-coding gene	gene with protein product	"WD repeat domain 94", "DDB1 and CUL4 associated factor 3"	611359				17622796, 17603510, 17589504	Standard	NM_001267782		Approved	FLJ20294, KIAA1736, WDR94, DCAF3	uc001ncv.3	Q9C0C7	OTTHUMG00000166500	ENST00000458649.2:c.1413dupG	11.37:g.46564158_46564158dupC	ENSP00000415327:p.Gly471fs					AMBRA1_ENST00000528950.1_Frame_Shift_Ins_p.V471fs|AMBRA1_ENST00000314845.3_Frame_Shift_Ins_p.V381fs|AMBRA1_ENST00000426438.1_Frame_Shift_Ins_p.V471fs|AMBRA1_ENST00000534300.1_Frame_Shift_Ins_p.V471fs|AMBRA1_ENST00000533727.1_Frame_Shift_Ins_p.V381fs|AMBRA1_ENST00000298834.3_Frame_Shift_Ins_p.V471fs	p.V471fs			Q9C0C7	AMRA1_HUMAN		GBM - Glioblastoma multiforme(35;0.0435)|Lung(87;0.182)	7	1830_1831	-			471					A6XN33|D3DQP8|G3V193|Q86XD6|Q9H8Z0|Q9NXE7	Frame_Shift_Ins	INS	ENST00000458649.2	37	c.1412_1413insG																																																																																					0.559	AMBRA1-005	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000390103.1	NM_017749		49	71						49	71	---	---	---	---	C	46564155	-	C	46564154	7	5	326	1	0	1	1	0	0	0	0	0	565	30	2	0	2531	0	AMBRA1	11	46564154	Frame_Shift_Ins	INS	-	TCGA-KK-A7AZ-01A-12D-A32B-08	48897	46564154	88442362	24	16683											
C2CD3	26005	broad.mit.edu	37	chr11	73834139	73834139	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gagatggggaatctggaggaGagcctagcccatcccagaaa	13	5	14	9	0	1	3	0	0	1	3	2	7	2	5	3	4	2	0	3	4	3	1	rs147709320		TCGA-KK-A7AZ-01A-12D-A32B-08	TCGA-KK-A7AZ-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f1c7f2a-40c5-45f3-8d16-a57db576d7a8	264de6e7-6977-404f-94eb-1bfbedd5a1e7	g.chr11:73834139G>C	ENST00000334126.7	-	8	1485	c.1259C>G	c.(1258-1260)tCt>tGt	p.S420C	C2CD3_ENST00000313663.7_Missense_Mutation_p.S420C			Q4AC94	C2CD3_HUMAN	C2 calcium-dependent domain containing 3	420					brain development (GO:0007420)|centriole elongation (GO:0061511)|embryonic digit morphogenesis (GO:0042733)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|neural plate axis specification (GO:0021997)|neural tube development (GO:0021915)|nonmotile primary cilium assembly (GO:0035058)|protein localization to centrosome (GO:0071539)|protein processing (GO:0016485)|regulation of proteolysis (GO:0030162)|regulation of smoothened signaling pathway (GO:0008589)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)				NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(26)|ovary(4)|pancreas(2)|prostate(1)|skin(3)	64	Breast(11;4.16e-06)					ATCTGGAGGAGAGCCTAGCCC	0.418																																						ENST00000334126.7																			0				NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(26)|ovary(4)|pancreas(2)|prostate(1)|skin(3)	64						c.(1258-1260)tCt>tGt		C2 calcium-dependent domain containing 3							69	69	69					11																	73834139		2200	4293	6493	SO:0001583	missense	26005					centrosome		g.chr11:73834139G>C	BC035599	CCDS31636.1, CCDS66167.1	11q13.4	2014-02-12	2007-10-17		ENSG00000168014	ENSG00000168014			24564	protein-coding gene	gene with protein product		615944					Standard	XM_005273897		Approved	DKFZP586P0123	uc001ouu.2	Q4AC94	OTTHUMG00000168110	ENST00000334126.7:c.1259C>G	11.37:g.73834139G>C	ENSP00000334379:p.Ser420Cys					C2CD3_ENST00000313663.7_Missense_Mutation_p.S420C	p.S420C			Q4AC94	C2CD3_HUMAN			8	1485	-	Breast(11;4.16e-06)		420					C9JR55|E2QRD1|Q2NLE1|Q3C1U9|Q6ZU92|Q8IYM4|Q8NB87|Q8NDH7|Q9Y4M2	Missense_Mutation	SNP	ENST00000334126.7	37	c.1259C>G		.	.	.	.	.	.	.	.	.	.	G	24.5	4.534172	0.85812	.	.	ENSG00000168014	ENST00000334126;ENST00000313663;ENST00000313681	T;T	0.14022	2.54;2.56	5.52	5.52	0.82312	.	0.128836	0.53938	D	0.000049	T	0.38904	0.1058	M	0.68952	2.095	0.45108	D	0.998127	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.09509	-1.0671	10	0.72032	D	0.01	-14.8447	19.0354	0.92974	0.0:0.0:1.0:0.0	.	420;420	Q4AC94;Q4AC94-1	C2CD3_HUMAN;.	C	420	ENSP00000334379:S420C;ENSP00000323339:S420C	ENSP00000323339:S420C	S	-	2	0	C2CD3	73511787	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.144000	0.89623	2.586000	0.87340	0.561000	0.74099	TCT		0.418	C2CD3-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015531		17	31	0	0	0	1	0	17	31					C	73834139	G	C	73834139	3	2	326	1	0	0	0	0	1	0	0	0	2154	942	33	5	4728	5	C2CD3	11	73834139	Missense_Mutation	SNP	G	TCGA-KK-A7AZ-01A-12D-A32B-08	27269985	73834139	61172377	25	16684											
GRIA4	2893	broad.mit.edu	37	chr11	105845043	105845043	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttatcccccctaggacaagAcgagtgccttgagcctgagc	9	9	10	13	1	0	3	0	2	0	1	1	5	1	4	5	1	3	0	5	1	3	4			TCGA-KK-A7AZ-01A-12D-A32B-08	TCGA-KK-A7AZ-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f1c7f2a-40c5-45f3-8d16-a57db576d7a8	264de6e7-6977-404f-94eb-1bfbedd5a1e7	g.chr11:105845043A>G	ENST00000530497.1	+	15	2416	c.2416A>G	c.(2416-2418)Acg>Gcg	p.T806A	GRIA4_ENST00000525187.1_Missense_Mutation_p.T806A|GRIA4_ENST00000393127.2_Missense_Mutation_p.T806A|GRIA4_ENST00000533094.1_3'UTR|RNU6-277P_ENST00000516272.1_RNA|GRIA4_ENST00000282499.5_Missense_Mutation_p.T806A			P48058	GRIA4_HUMAN	glutamate receptor, ionotropic, AMPA 4	806					glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|vesicle (GO:0031982)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)|ionotropic glutamate receptor activity (GO:0004970)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(24)|liver(2)|lung(25)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	82		Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323)		BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899)		CTAGGACAAGACGAGTGCCTT	0.443																																						ENST00000393127.2																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(24)|liver(2)|lung(25)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	82						c.(2416-2418)Acg>Gcg		glutamate receptor, ionotropic, AMPA 4	L-Glutamic Acid(DB00142)						166	157	160					11																	105845043		2201	4299	6500	SO:0001583	missense	0				glutamate signaling pathway|synaptic transmission	cell junction|endocytic vesicle membrane|integral to membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity	g.chr11:105845043A>G	U16129	CCDS8333.1, CCDS41706.1, CCDS41707.1	11q22	2012-08-29	2012-02-03		ENSG00000152578	ENSG00000152578		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4574	protein-coding gene	gene with protein product		138246	"glutamate receptor, ionotrophic, AMPA 4"	GLUR4			Standard	NM_001077244		Approved	GluA4, GLURD	uc001pix.2	P48058	OTTHUMG00000166236	ENST00000530497.1:c.2416A>G	11.37:g.105845043A>G	ENSP00000435775:p.Thr806Ala					GRIA4_ENST00000533094.1_3'UTR|GRIA4_ENST00000525187.1_Missense_Mutation_p.T806A|GRIA4_ENST00000530497.1_Missense_Mutation_p.T806A|GRIA4_ENST00000282499.5_Missense_Mutation_p.T806A	p.T806A	NM_001077243.2	NP_001070711.2	P48058	GRIA4_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899)	16	2862	+		Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323)	806					Q86XE8	Missense_Mutation	SNP	ENST00000530497.1	37	c.2416A>G	CCDS8333.1	.	.	.	.	.	.	.	.	.	.	A	14.26	2.483192	0.44147	.	.	ENSG00000152578	ENST00000282499;ENST00000393127;ENST00000530497;ENST00000525187	T;T;T;T	0.52057	0.68;0.68;0.68;0.68	5.82	5.82	0.92795	Ionotropic glutamate receptor (1);	0.000000	0.64402	D	0.000001	T	0.35566	0.0936	N	0.20610	0.595	0.44899	D	0.997915	B;B	0.31459	0.012;0.324	B;B	0.38428	0.023;0.273	T	0.14504	-1.0470	10	0.05525	T	0.97	.	16.1806	0.81895	1.0:0.0:0.0:0.0	.	806;806	P48058;G3V164	GRIA4_HUMAN;.	A	806	ENSP00000282499:T806A;ENSP00000376835:T806A;ENSP00000435775:T806A;ENSP00000432180:T806A	ENSP00000282499:T806A	T	+	1	0	GRIA4	105350253	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.238000	0.51352	2.221000	0.72209	0.528000	0.53228	ACG		0.443	GRIA4-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000388593.1			4	160	0	0	0	1	0	4	160					G	105845043	A	G	105845043	3	3	326	1	0	0	0	0	1	0	0	0	6770	275	10	4	2630	4	GRIA4	11	105845043	Missense_Mutation	SNP	A	TCGA-KK-A7AZ-01A-12D-A32B-08	32010904	105845043	29161473	26	16685											
CAND1	55832	broad.mit.edu	37	chr12	67700007	67700007	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catcatattgacttaagtggAcagttggaactaaaatctgt	14	13	8	6	0	2	1	1	1	1	0	2	3	2	3	0	2	1	1	0	2	5	5			TCGA-KK-A7AZ-01A-12D-A32B-08	TCGA-KK-A7AZ-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f1c7f2a-40c5-45f3-8d16-a57db576d7a8	264de6e7-6977-404f-94eb-1bfbedd5a1e7	g.chr12:67700007A>T	ENST00000545606.1	+	10	2996	c.2559A>T	c.(2557-2559)ggA>ggT	p.G853G		NM_018448.3	NP_060918.2	Q86VP6	CAND1_HUMAN	cullin-associated and neddylation-dissociated 1	853					cell differentiation (GO:0030154)|negative regulation of catalytic activity (GO:0043086)|positive regulation of RNA polymerase II transcriptional preinitiation complex assembly (GO:0045899)|protein ubiquitination (GO:0016567)|SCF complex assembly (GO:0010265)	cullin-RING ubiquitin ligase complex (GO:0031461)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)				NS(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)	35			GBM - Glioblastoma multiforme(1;1.13e-10)|Lung(24;0.000342)|LUSC - Lung squamous cell carcinoma(43;0.196)	GBM - Glioblastoma multiforme(28;0.0279)		ACTTAAGTGGACAGTTGGAAC	0.398																																						ENST00000545606.1																			0				NS(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)	35						c.(2557-2559)ggA>ggT		cullin-associated and neddylation-dissociated 1							117	116	117					12																	67700007		2203	4300	6503	SO:0001819	synonymous_variant	55832				cell differentiation|negative regulation of catalytic activity|protein ubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|ubiquitin ligase complex	protein binding	g.chr12:67700007A>T		CCDS8977.1	12q14	2008-02-05			ENSG00000111530	ENSG00000111530			30688	protein-coding gene	gene with protein product	"TBP interacting protein"	607727				10048485, 8954946	Standard	NM_018448		Approved	TIP120A, DKFZp434M1414, KIAA0829, TIP120	uc001stn.2	Q86VP6	OTTHUMG00000169060	ENST00000545606.1:c.2559A>T	12.37:g.67700007A>T							p.G853G	NM_018448.3	NP_060918.2	Q86VP6	CAND1_HUMAN	GBM - Glioblastoma multiforme(1;1.13e-10)|Lung(24;0.000342)|LUSC - Lung squamous cell carcinoma(43;0.196)	GBM - Glioblastoma multiforme(28;0.0279)	10	2996	+			853					B2RAU3|O94918|Q6PIY4|Q8NDJ4|Q96JZ9|Q96T19|Q9BTC4|Q9H0G2|Q9P0H7|Q9UF85	Silent	SNP	ENST00000545606.1	37	c.2559A>T	CCDS8977.1																																																																																				0.398	CAND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402105.1	NM_018448		24	89	0	0	0	1	0	24	89					T	67700007	A	T	67700007	2	4	326	1	0	0	0	0	0	0	0	1	2615	262	10	5		5	CAND1	12	67700007	Silent	SNP	A	TCGA-KK-A7AZ-01A-12D-A32B-08		67700007	66151888	27	16686											
USP12	219333	broad.mit.edu	37	chr13	27664046	27664046	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtgcttcctgtttgctgcgAcactcttcacagtaatactt	7	16	7	11	1	2	0	1	0	1	0	3	1	3	0	1	0	4	4	1	0	2	6			TCGA-KK-A7AZ-01A-12D-A32B-08	TCGA-KK-A7AZ-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f1c7f2a-40c5-45f3-8d16-a57db576d7a8	264de6e7-6977-404f-94eb-1bfbedd5a1e7	g.chr13:27664046A>C	ENST00000282344.6	-	6	964	c.708T>G	c.(706-708)tgT>tgG	p.C236W		NM_182488.3	NP_872294.2	O75317	UBP12_HUMAN	ubiquitin specific peptidase 12	236	USP.				protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type endopeptidase activity (GO:0004197)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			breast(3)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Lung SC(185;0.0161)		all cancers(112;0.0508)|GBM - Glioblastoma multiforme(144;0.168)|Epithelial(112;0.244)|OV - Ovarian serous cystadenocarcinoma(117;0.246)		GTTTGCTGCGACACTCTTCAC	0.348																																					Ovarian(37;808 911 7590 44442 44991)	ENST00000282344.6																			0				breast(3)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						c.(706-708)tgT>tgG		ubiquitin specific peptidase 12							67	65	66					13																	27664046		2203	4300	6503	SO:0001583	missense	219333				protein deubiquitination|ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr13:27664046A>C	AL049221	CCDS31952.1	13q12.13	2010-05-12	2005-08-08	2003-10-08	ENSG00000152484	ENSG00000152484		"Ubiquitin-specific peptidases"	20485	protein-coding gene	gene with protein product			"ubiquitin specific protease 12 like 1", "ubiquitin specific protease 12"	USP12L1		12838346	Standard	NM_182488		Approved		uc001uqy.3	O75317	OTTHUMG00000016626	ENST00000282344.6:c.708T>G	13.37:g.27664046A>C	ENSP00000282344:p.Cys236Trp						p.C236W	NM_182488.3	NP_872294.2	O75317	UBP12_HUMAN		all cancers(112;0.0508)|GBM - Glioblastoma multiforme(144;0.168)|Epithelial(112;0.244)|OV - Ovarian serous cystadenocarcinoma(117;0.246)	6	964	-		Lung SC(185;0.0161)	236					A8K0X0|Q5VZV3|Q8TC49	Missense_Mutation	SNP	ENST00000282344.6	37	c.708T>G	CCDS31952.1	.	.	.	.	.	.	.	.	.	.	A	17.50	3.404946	0.62288	.	.	ENSG00000152484	ENST00000282344	T	0.10763	2.84	5.22	1.42	0.22433	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.000000	0.85682	D	0.000000	T	0.47746	0.1462	H	0.99535	4.615	0.80722	D	1	D	0.76494	0.999	D	0.77004	0.989	T	0.57283	-0.7838	10	0.87932	D	0	-14.696	8.8769	0.35352	0.7787:0.0:0.2213:0.0	.	236	O75317	UBP12_HUMAN	W	236	ENSP00000282344:C236W	ENSP00000282344:C236W	C	-	3	2	USP12	26562046	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	0.933000	0.28897	0.085000	0.17107	0.482000	0.46254	TGT		0.348	USP12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044264.1	NM_182488		15	34	0	0	0	1	0	15	34					C	27664046	A	C	27664046	3	2	326	1	0	0	0	0	1	0	0	0	17040	273	10	5	420	5	USP12	13	27664046	Missense_Mutation	SNP	A	TCGA-KK-A7AZ-01A-12D-A32B-08		27664046	87505832	28	16687											
OR4N2	390429	broad.mit.edu	37	chr14	20296415	20296415	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gggctttcccagctgacaagGtggtttctctcttccacaca	7	12	9	13	0	2	1	0	1	2	0	5	1	4	1	2	3	1	3	2	3	1	3			TCGA-KK-A7AZ-01A-12D-A32B-08	TCGA-KK-A7AZ-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f1c7f2a-40c5-45f3-8d16-a57db576d7a8	264de6e7-6977-404f-94eb-1bfbedd5a1e7	g.chr14:20296415G>C	ENST00000315947.1	+	1	808	c.808G>C	c.(808-810)Gtg>Ctg	p.V270L	OR4N2_ENST00000568211.1_3'UTR	NM_001004723.1	NP_001004723.1	Q8NGD1	OR4N2_HUMAN	olfactory receptor, family 4, subfamily N, member 2	270						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(32)|ovary(2)|prostate(1)|skin(2)|stomach(2)	52	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		AGCTGACAAGGTGGTTTCTCT	0.443																																						ENST00000315947.1																			0				breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(32)|ovary(2)|prostate(1)|skin(2)|stomach(2)	52						c.(808-810)Gtg>Ctg		olfactory receptor, family 4, subfamily N, member 2							96	100	98					14																	20296415		2203	4300	6503	SO:0001583	missense	390429				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20296415G>C		CCDS32022.1	14q11.2	2013-09-23				ENSG00000176294		"GPCR / Class A : Olfactory receptors"	14742	protein-coding gene	gene with protein product							Standard	NM_001004723		Approved		uc010tkv.2	Q8NGD1		ENST00000315947.1:c.808G>C	14.37:g.20296415G>C	ENSP00000319601:p.Val270Leu					OR4N2_ENST00000568211.1_3'UTR	p.V270L	NM_001004723.1	NP_001004723.1	Q8NGD1	OR4N2_HUMAN	Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)	1	808	+	all_cancers(95;0.00108)		270					Q6IEY9|Q6IFA2	Missense_Mutation	SNP	ENST00000315947.1	37	c.808G>C	CCDS32022.1	.	.	.	.	.	.	.	.	.	.	.	10.66	1.412392	0.25465	.	.	ENSG00000176294	ENST00000315947	T	0.00249	8.44	4.57	3.6	0.41247	GPCR, rhodopsin-like superfamily (1);	0.000000	0.42964	D	0.000628	T	0.00109	0.0003	L	0.28014	0.82	0.09310	N	1	B	0.15473	0.013	B	0.24269	0.052	T	0.34775	-0.9815	10	0.11794	T	0.64	-13.2756	5.2335	0.15434	0.1044:0.0:0.6928:0.2028	.	270	Q8NGD1	OR4N2_HUMAN	L	270	ENSP00000319601:V270L	ENSP00000319601:V270L	V	+	1	0	OR4N2	19366255	0.000000	0.05858	0.999000	0.59377	0.959000	0.62525	-0.071000	0.11505	2.521000	0.84997	0.591000	0.81541	GTG		0.443	OR4N2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409821.2			4	254	0	0	0	1	0	4	254					C	20296415	G	C	20296415	3	2	326	1	0	0	0	0	1	0	0	0	11077	1261	44	5	810	5	OR4N2	14	20296415	Missense_Mutation	SNP	G	TCGA-KK-A7AZ-01A-12D-A32B-08		20296415	87053125	29	16688											
KIAA0284	283638	broad.mit.edu	37	chr14	105344279	105344279	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	acgtcacgctgaagctcaacGatgtcatccgcttcggctac	9	9	9	14	5	3	1	3	1	0	0	5	2	4	1	1	1	3	4	1	1	3	2			TCGA-KK-A7AZ-01A-12D-A32B-08	TCGA-KK-A7AZ-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f1c7f2a-40c5-45f3-8d16-a57db576d7a8	264de6e7-6977-404f-94eb-1bfbedd5a1e7	g.chr14:105344279G>A	ENST00000414716.3	+	4	481	c.253G>A	c.(253-255)Gat>Aat	p.D85N	CEP170B_ENST00000453495.1_Missense_Mutation_p.D85N|CEP170B_ENST00000556508.1_Missense_Mutation_p.D15N|CEP170B_ENST00000418279.1_Missense_Mutation_p.D15N	NM_001112726.2	NP_001106197.1	Q9Y4F5	C170B_HUMAN	centrosomal protein 170B	85						cytoplasm (GO:0005737)|microtubule (GO:0005874)											GAAGCTCAACGATGTCATCCG	0.612																																						ENST00000453495.1																			0											c.(253-255)Gat>Aat		centrosomal protein 170B							53	60	57					14																	105344279		2097	4220	6317	SO:0001583	missense	283638							g.chr14:105344279G>A	AB006622	CCDS45175.1, CCDS45176.1, CCDS45176.2	14q32.33	2014-02-20	2012-11-30	2012-11-30	ENSG00000099814	ENSG00000099814			20362	protein-coding gene	gene with protein product	"Cep170-related"		"KIAA0284"	KIAA0284		23087211	Standard	NM_015005		Approved	FAM68C, Cep170R	uc010axb.4	Q9Y4F5	OTTHUMG00000170763	ENST00000414716.3:c.253G>A	14.37:g.105344279G>A	ENSP00000404151:p.Asp85Asn					CEP170B_ENST00000414716.3_Missense_Mutation_p.D85N|CEP170B_ENST00000418279.1_Missense_Mutation_p.D15N|CEP170B_ENST00000556508.1_Missense_Mutation_p.D15N	p.D85N							4	481	+								Q2KHR7|Q86TI7	Missense_Mutation	SNP	ENST00000414716.3	37	c.253G>A	CCDS45175.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.138778	0.77775	.	.	ENSG00000099814	ENST00000556508;ENST00000414716;ENST00000453495;ENST00000418279	T;D;D;T	0.91464	1.43;-2.85;-2.85;1.43	3.51	3.51	0.40186	.	0.000000	0.64402	D	0.000001	D	0.95884	0.8660	M	0.91561	3.22	0.46586	D	0.999114	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.998	D	0.96675	0.9499	10	0.72032	D	0.01	-27.7166	13.9715	0.64242	0.0:0.0:1.0:0.0	.	85;15	Q9Y4F5-2;E9PFC1	.;.	N	15;85;85;15	ENSP00000451249:D15N;ENSP00000404151:D85N;ENSP00000407238:D85N;ENSP00000415006:D15N	ENSP00000404151:D85N	D	+	1	0	KIAA0284	104415324	1.000000	0.71417	0.226000	0.23910	0.409000	0.31022	5.011000	0.64011	1.798000	0.52647	0.313000	0.20887	GAT		0.612	CEP170B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000410289.2	NM_001112726		8	7	0	0	0	1	0	8	7					A	105344279	G	A	105344279	3	1	326	1	0	0	0	0	1	0	0	0	8166	1058	37	2	263	2	KIAA0284	14	105344279	Missense_Mutation	SNP	G	TCGA-KK-A7AZ-01A-12D-A32B-08	85047864	105344279	2005261	30	16689											
MPI	4351	broad.mit.edu	37	chr15	75183769	75183769	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgccaagatccttgacaaccGcatctcacagaagaccctaa	14	7	6	14	1	1	4	1	1	1	3	3	4	2	4	4	0	2	1	4	0	4	2			TCGA-KK-A7AZ-01A-12D-A32B-08	TCGA-KK-A7AZ-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f1c7f2a-40c5-45f3-8d16-a57db576d7a8	264de6e7-6977-404f-94eb-1bfbedd5a1e7	g.chr15:75183769G>A	ENST00000352410.4	+	3	261	c.194G>A	c.(193-195)cGc>cAc	p.R65H	MPI_ENST00000563422.1_Missense_Mutation_p.R65H|MPI_ENST00000566377.1_Missense_Mutation_p.R65H|MPI_ENST00000323744.6_Missense_Mutation_p.R65H|MPI_ENST00000562606.1_Missense_Mutation_p.R45H|MPI_ENST00000563786.1_Missense_Mutation_p.R45H|MPI_ENST00000564003.1_Missense_Mutation_p.R15H|MPI_ENST00000565576.1_Missense_Mutation_p.R65H|MPI_ENST00000535694.1_Missense_Mutation_p.R15H			P34949	MPI_HUMAN	mannose phosphate isomerase	65					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|GDP-mannose biosynthetic process (GO:0009298)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	mannose-6-phosphate isomerase activity (GO:0004476)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|upper_aerodigestive_tract(1)	9						CTTGACAACCGCATCTCACAG	0.552																																						ENST00000352410.4																			0				endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|upper_aerodigestive_tract(1)	9						c.(193-195)cGc>cAc		mannose phosphate isomerase							175	153	160					15																	75183769		2197	4295	6492	SO:0001583	missense	4351				dolichol-linked oligosaccharide biosynthetic process|GDP-mannose biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	cytosol	mannose-6-phosphate isomerase activity|zinc ion binding	g.chr15:75183769G>A		CCDS10272.1, CCDS73756.1, CCDS73757.1, CCDS73758.1	15q24.1	2013-09-19			ENSG00000178802	ENSG00000178802	5.3.1.8		7216	protein-coding gene	gene with protein product	"mannose-6-phosphate isomerase"	154550					Standard	NM_002435		Approved		uc002azc.1	P34949	OTTHUMG00000142826	ENST00000352410.4:c.194G>A	15.37:g.75183769G>A	ENSP00000318318:p.Arg65His					MPI_ENST00000564003.1_Missense_Mutation_p.R15H|MPI_ENST00000563786.1_Missense_Mutation_p.R45H|MPI_ENST00000323744.6_Missense_Mutation_p.R65H|MPI_ENST00000562606.1_Missense_Mutation_p.R45H|MPI_ENST00000563422.1_Missense_Mutation_p.R65H|MPI_ENST00000535694.1_Missense_Mutation_p.R15H|MPI_ENST00000565576.1_Missense_Mutation_p.R65H|MPI_ENST00000566377.1_Missense_Mutation_p.R65H	p.R65H			P34949	MPI_HUMAN			3	261	+			65					A8K8K9|Q96AB0	Missense_Mutation	SNP	ENST00000352410.4	37	c.194G>A	CCDS10272.1	.	.	.	.	.	.	.	.	.	.	G	12.58	1.980537	0.34942	.	.	ENSG00000178802	ENST00000352410;ENST00000535694;ENST00000379693;ENST00000323744	D;D;D	0.95690	-3.78;-3.78;-3.78	5.07	1.93	0.25924	Cupin, RmlC-type (1);RmlC-like jelly roll fold (1);	0.247105	0.39475	N	0.001360	D	0.90631	0.7062	L	0.41356	1.27	0.36302	D	0.857123	B;B;B;B;B	0.15930	0.015;0.013;0.003;0.0;0.004	B;B;B;B;B	0.20955	0.032;0.002;0.002;0.009;0.009	D	0.87316	0.2315	10	0.46703	T	0.11	.	6.3624	0.21435	0.2312:0.1374:0.6314:0.0	.	15;65;65;45;65	B4DYB8;B4DFC4;P34949-2;Q8NHZ6;P34949	.;.;.;.;MPI_HUMAN	H	65;15;45;65	ENSP00000318318:R65H;ENSP00000440447:R15H;ENSP00000318192:R65H	ENSP00000318192:R65H	R	+	2	0	MPI	72970822	0.001000	0.12720	0.143000	0.22291	0.620000	0.37586	1.040000	0.30278	1.122000	0.41944	0.462000	0.41574	CGC		0.552	MPI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286418.4			4	152	0	0	0	1	0	4	152					A	75183769	G	A	75183769	3	1	326	1	0	0	0	0	1	0	0	0	9729	1087	38	1	204	1	MPI	15	75183769	Missense_Mutation	SNP	G	TCGA-KK-A7AZ-01A-12D-A32B-08		75183769	27347623	31	16690											
SGK269	79834	broad.mit.edu	37	chr15	77473215	77473215	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actggctgtctcagaacgtgAttcttctgttaaagaagaat	12	13	9	7	1	3	4	1	1	3	3	4	4	3	4	0	1	1	2	0	1	5	3			TCGA-KK-A7AZ-01A-12D-A32B-08	TCGA-KK-A7AZ-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f1c7f2a-40c5-45f3-8d16-a57db576d7a8	264de6e7-6977-404f-94eb-1bfbedd5a1e7	g.chr15:77473215A>T	ENST00000560626.2	-	4	1529	c.1054T>A	c.(1054-1056)Tca>Aca	p.S352T	PEAK1_ENST00000312493.4_Missense_Mutation_p.S352T|PEAK1_ENST00000558305.1_Missense_Mutation_p.S352T			Q9H792	PEAK1_HUMAN	pseudopodium-enriched atypical kinase 1	352	Ser-rich.				cell migration (GO:0016477)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein autophosphorylation (GO:0046777)|substrate adhesion-dependent cell spreading (GO:0034446)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)										TCAGAACGTGATTCTTCTGTT	0.428																																						ENST00000560626.2																			0											c.(1054-1056)Tca>Aca		pseudopodium-enriched atypical kinase 1							53	48	50					15																	77473215		1876	4098	5974	SO:0001583	missense	79834				cell migration|protein autophosphorylation|substrate adhesion-dependent cell spreading	actin cytoskeleton|cytoplasm|focal adhesion	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding	g.chr15:77473215A>T		CCDS42062.1	15q24.3	2013-09-27			ENSG00000173517	ENSG00000173517			29431	protein-coding gene	gene with protein product		614248				16879967, 20534451	Standard	NM_024776		Approved	KIAA2002, sgk269		Q9H792	OTTHUMG00000172618	ENST00000560626.2:c.1054T>A	15.37:g.77473215A>T	ENSP00000452796:p.Ser352Thr					PEAK1_ENST00000312493.4_Missense_Mutation_p.S352T|PEAK1_ENST00000558305.1_Missense_Mutation_p.S352T	p.S352T			Q9H792	PEAK1_HUMAN			4	1529	-			352			Ser-rich.		Q6ZS78|Q8NAZ4|Q8NCM3|Q8TEG7	Missense_Mutation	SNP	ENST00000560626.2	37	c.1054T>A	CCDS42062.1	.	.	.	.	.	.	.	.	.	.	A	14.72	2.620733	0.46736	.	.	ENSG00000173517	ENST00000312493	T	0.71461	-0.57	5.3	5.3	0.74995	.	0.215535	0.19367	U	0.115998	T	0.62527	0.2435	N	0.24115	0.695	0.30453	N	0.775014	D	0.57257	0.979	P	0.46718	0.525	T	0.63954	-0.6520	10	0.38643	T	0.18	-5.6092	13.8183	0.63306	1.0:0.0:0.0:0.0	.	352	Q9H792	PEAK1_HUMAN	T	352	ENSP00000309230:S352T	ENSP00000309230:S352T	S	-	1	0	AC087465.1	75260270	1.000000	0.71417	0.944000	0.38274	0.944000	0.59088	8.567000	0.90737	1.999000	0.58509	0.455000	0.32223	TCA		0.428	PEAK1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419483.3			39	37	0	0	0	1	0	39	37					T	77473215	A	T	77473215	3	4	326	1	0	0	0	0	1	0	0	0	14211	333	12	5	4202	5	SGK269	15	77473215	Missense_Mutation	SNP	A	TCGA-KK-A7AZ-01A-12D-A32B-08	2289446	77473215	25058177	32	16691											
KIF22	3835	broad.mit.edu	37	chr16	29816582	29816582	+	Splice_Site	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccctccctcctgtgttgcAggcaaacatcctgggtctcg	5	11	9	16	1	1	0	0	0	1	0	6	0	5	0	4	2	2	3	4	2	1	1			TCGA-KK-A7AZ-01A-12D-A32B-08	TCGA-KK-A7AZ-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f1c7f2a-40c5-45f3-8d16-a57db576d7a8	264de6e7-6977-404f-94eb-1bfbedd5a1e7	g.chr16:29816582A>T	ENST00000160827.4	+	14	1990		c.e14-1		MAZ_ENST00000219782.6_5'Flank|MAZ_ENST00000568544.1_5'Flank|MAZ_ENST00000566906.2_5'Flank|KIF22_ENST00000561482.1_Splice_Site|KIF22_ENST00000569382.2_Splice_Site|MAZ_ENST00000322945.6_5'Flank|MAZ_ENST00000545521.1_5'Flank|MAZ_ENST00000569978.1_5'Flank|MAZ_ENST00000568282.1_5'Flank|MAZ_ENST00000563402.1_5'Flank|MAZ_ENST00000562337.1_5'Flank|KIF22_ENST00000400751.5_Splice_Site|AC009133.15_ENST00000566537.1_RNA	NM_001256269.1|NM_007317.2	NP_001243198.1|NP_015556.1	Q14807	KIF22_HUMAN	kinesin family member 22						antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|DNA repair (GO:0006281)|microtubule-based movement (GO:0007018)|mitotic nuclear division (GO:0007067)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|microtubule (GO:0005874)|nucleus (GO:0005634)|spindle (GO:0005819)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|microtubule motor activity (GO:0003777)			endometrium(1)|large_intestine(1)|lung(11)|skin(1)	14						CCTGTGTTGCAGGCAAACATC	0.622																																						ENST00000561482.1																			0				endometrium(1)|large_intestine(1)|lung(11)|skin(1)	14						c.e14-1		kinesin family member 22							130	141	137					16																	29816582		2197	4296	6493	SO:0001630	splice_region_variant	3835				blood coagulation|DNA repair|microtubule-based movement|mitosis	cytosol|kinetochore|microtubule|nucleus	ATP binding|DNA binding|microtubule motor activity|protein binding	g.chr16:29816582A>T	D38751	CCDS10653.1, CCDS58444.1	16p11.2	2008-03-03	2003-01-09	2003-01-10	ENSG00000079616	ENSG00000079616		"Kinesins"	6391	protein-coding gene	gene with protein product		603213	"kinesin-like 4"	KNSL4		8599929, 11416179	Standard	NM_007317		Approved	Kid, OBP-1, OBP-2	uc002dts.4	Q14807	OTTHUMG00000097771	ENST00000160827.4:c.1951-1A>T	16.37:g.29816582A>T						KIF22_ENST00000160827.4_Splice_Site|KIF22_ENST00000400751.5_Splice_Site|KIF22_ENST00000569382.2_Splice_Site		NM_001256270.1	NP_001243199.1	Q14807	KIF22_HUMAN			14	2383	+								B2R5M0|B7Z265|O60845|O94814|Q53F58|Q9BT46	Splice_Site	SNP	ENST00000160827.4	37		CCDS10653.1	.	.	.	.	.	.	.	.	.	.	A	14.41	2.526654	0.44969	.	.	ENSG00000079616	ENST00000160827;ENST00000400751	.	.	.	4.53	4.53	0.55603	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.1163	0.53868	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	KIF22	29724083	1.000000	0.71417	1.000000	0.80357	0.282000	0.26991	2.736000	0.47385	2.023000	0.59567	0.454000	0.30748	.		0.622	KIF22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215012.2		Intron	7	220	0	0	0	1	0	7	220					T	29816582	A	T	29816582	5	4	326	1	0	0	0	0	0	0	1	0	8290	202	7	5	2003	5	KIF22	16	29816582	Splice_Site	SNP	A	TCGA-KK-A7AZ-01A-12D-A32B-08		29816582	60538171	33	16692											
CNOT1	23019	broad.mit.edu	37	chr16	58559097	58559097	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actcaccctcagtgtccaagTccacagccaaattctggaag	12	8	7	14	0	3	0	2	0	1	0	5	1	5	1	4	1	1	0	4	1	3	1			TCGA-KK-A7AZ-01A-12D-A32B-08	TCGA-KK-A7AZ-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f1c7f2a-40c5-45f3-8d16-a57db576d7a8	264de6e7-6977-404f-94eb-1bfbedd5a1e7	g.chr16:58559097T>A	ENST00000317147.5	-	46	7102	c.6770A>T	c.(6769-6771)gAc>gTc	p.D2257V	CNOT1_ENST00000245138.4_Missense_Mutation_p.D1108V|CNOT1_ENST00000569240.1_Missense_Mutation_p.D2252V	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1	2257					gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of cytoplasmic mRNA processing body assembly (GO:0010606)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|regulation of stem cell maintenance (GO:2000036)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|transcription, DNA-templated (GO:0006351)|trophectodermal cell differentiation (GO:0001829)	CCR4-NOT complex (GO:0030014)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|extracellular space (GO:0005615)|membrane (GO:0016020)|nucleus (GO:0005634)|peroxisomal membrane (GO:0005778)	estrogen receptor binding (GO:0030331)|poly(A) RNA binding (GO:0044822)|retinoic acid receptor binding (GO:0042974)			breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		AGTGTCCAAGTCCACAGCCAA	0.463																																						ENST00000317147.5																			0				breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87						c.(6769-6771)gAc>gTc		CCR4-NOT transcription complex, subunit 1							175	138	150					16																	58559097		2198	4300	6498	SO:0001583	missense	23019				nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol		g.chr16:58559097T>A	AL833549	CCDS10799.1, CCDS45501.1, CCDS58468.1	16q21	2008-02-05			ENSG00000125107	ENSG00000125107			7877	protein-coding gene	gene with protein product		604917		NOT1		14702039	Standard	NM_016284		Approved	CDC39, NOT1H, KIAA1007, AD-005	uc002env.4	A5YKK6	OTTHUMG00000133487	ENST00000317147.5:c.6770A>T	16.37:g.58559097T>A	ENSP00000320949:p.Asp2257Val					CNOT1_ENST00000569240.1_Missense_Mutation_p.D2252V|CNOT1_ENST00000245138.4_Missense_Mutation_p.D1108V	p.D2257V	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN		Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)	46	7102	-			2257					Q68DX7|Q7Z3K2|Q8IWB8|Q8TB53|Q9BVZ6|Q9UFR8|Q9UI27|Q9Y2L0	Missense_Mutation	SNP	ENST00000317147.5	37	c.6770A>T	CCDS10799.1	.	.	.	.	.	.	.	.	.	.	T	26.0	4.691588	0.88735	.	.	ENSG00000125107	ENST00000317147;ENST00000422872;ENST00000546037;ENST00000245138	T	0.48522	0.81	6.08	6.08	0.98989	CCR4-Not complex component, Not1, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.67277	0.2876	M	0.69823	2.125	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.997	D;D;D	0.70227	0.953;0.968;0.935	T	0.66952	-0.5793	10	0.42905	T	0.14	-9.2824	15.8323	0.78764	0.0:0.0:0.0:1.0	.	1108;2257;2252	B5MDN3;A5YKK6;A5YKK6-2	.;CNOT1_HUMAN;.	V	2257;951;262;1108	ENSP00000320949:D2257V	ENSP00000245138:D1108V	D	-	2	0	CNOT1	57116598	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.798000	0.85924	2.333000	0.79357	0.482000	0.46254	GAC		0.463	CNOT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257385.3	NM_016284		35	52	0	0	0	1	0	35	52					A	58559097	T	A	58559097	3	1	326	1	0	0	0	0	1	0	0	0	3617	1667	58	5	376	5	CNOT1	16	58559097	Missense_Mutation	SNP	T	TCGA-KK-A7AZ-01A-12D-A32B-08	28742515	58559097	31795656	34	16693											
PLCG2	5336	broad.mit.edu	37	chr16	81971363	81971363	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgttcactttccttcccagAtaagtacatgcagatgaatc	11	12	7	11	1	1	3	1	1	0	2	4	3	3	3	2	0	2	3	2	0	3	5			TCGA-KK-A7AZ-01A-12D-A32B-08	TCGA-KK-A7AZ-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f1c7f2a-40c5-45f3-8d16-a57db576d7a8	264de6e7-6977-404f-94eb-1bfbedd5a1e7	g.chr16:81971363A>G	ENST00000359376.3	+	28	3267	c.3053A>G	c.(3052-3054)gAt>gGt	p.D1018G		NM_002661.3	NP_002652.2	P16885	PLCG2_HUMAN	phospholipase C, gamma 2 (phosphatidylinositol-specific)	1018	PI-PLC Y-box. {ECO:0000255|PROSITE- ProRule:PRU00271}.				B cell differentiation (GO:0030183)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|calcium-mediated signaling (GO:0019722)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|inositol phosphate metabolic process (GO:0043647)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid catabolic process (GO:0009395)|platelet activation (GO:0030168)|release of sequestered calcium ion into cytosol (GO:0051209)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	58						TCCTTCCCAGATAAGTACATG	0.517																																						ENST00000359376.3																			0				NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	58						c.e28-1		phospholipase C, gamma 2 (phosphatidylinositol-specific)							97	91	93					16																	81971363		2021	4179	6200	SO:0001630	splice_region_variant	5336				intracellular signal transduction|phospholipid catabolic process|platelet activation	plasma membrane	phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity	g.chr16:81971363A>G		CCDS42204.1	16q24.1	2014-09-17				ENSG00000197943	3.1.4.11	"SH2 domain containing"	9066	protein-coding gene	gene with protein product		600220				7835906	Standard	XR_248240		Approved		uc002fgt.3	P16885		ENST00000359376.3:c.3053-1A>G	16.37:g.81971363A>G							p.D1018_splice	NM_002661.3	NP_002652.2	P16885	PLCG2_HUMAN			28	3267	+			1018			PI-PLC Y-box.		D3DUL3|Q3ZTS2|Q59H45|Q969T5	Splice_Site	SNP	ENST00000359376.3	37	c.3052_splice	CCDS42204.1	.	.	.	.	.	.	.	.	.	.	A	17.85	3.491121	0.64074	.	.	ENSG00000197943	ENST00000359376	T	0.55930	0.49	5.42	5.42	0.78866	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);Phospholipase C, phosphatidylinositol-specific, Y domain (3);	0.000000	0.85682	D	0.000000	T	0.48874	0.1524	L	0.53561	1.675	0.80722	D	1	B	0.14438	0.01	B	0.11329	0.006	T	0.41378	-0.9512	9	.	.	.	.	15.4811	0.75528	1.0:0.0:0.0:0.0	.	1018	P16885	PLCG2_HUMAN	G	1018	ENSP00000352336:D1018G	.	D	+	2	0	PLCG2	80528864	1.000000	0.71417	0.995000	0.50966	0.975000	0.68041	8.832000	0.92079	2.064000	0.61679	0.459000	0.35465	GAT		0.517	PLCG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432429.1		Missense_Mutation	21	48	0	0	0	1	0	21	48					G	81971363	A	G	81971363	5	3	326	1	0	0	0	0	0	0	1	0	12036	347	12	4	3159	4	PLCG2	16	81971363	Splice_Site	SNP	A	TCGA-KK-A7AZ-01A-12D-A32B-08	23412266	81971363	8383390	35	16694											
TMEM49	81671	broad.mit.edu	37	chr17	57842439	57842439	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtccagatgaagagggcacTgaaggaaccatttctttgtg	11	11	12	7	0	1	4	0	2	1	2	2	5	2	5	2	2	1	1	2	2	3	2			TCGA-KK-A7AZ-01A-12D-A32B-08	TCGA-KK-A7AZ-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f1c7f2a-40c5-45f3-8d16-a57db576d7a8	264de6e7-6977-404f-94eb-1bfbedd5a1e7	g.chr17:57842439T>G	ENST00000262291.4	+	6	832	c.522T>G	c.(520-522)acT>acG	p.T174T	VMP1_ENST00000536180.1_Silent_p.T77T|VMP1_ENST00000539763.1_5'UTR|VMP1_ENST00000537567.1_Silent_p.T40T|VMP1_ENST00000545362.1_Intron	NM_030938.3	NP_112200.2	Q96GC9	VMP1_HUMAN	vacuole membrane protein 1	174					autophagy (GO:0006914)|cell junction assembly (GO:0034329)|embryo implantation (GO:0007566)|regulation of autophagy (GO:0010506)|single organismal cell-cell adhesion (GO:0016337)	autophagic vacuole membrane (GO:0000421)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|pre-autophagosomal structure (GO:0000407)				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|skin(2)	16						AAGAGGGCACTGAAGGAACCA	0.373																																						ENST00000262291.4																			0				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|skin(2)	16						c.(520-522)acT>acG		vacuole membrane protein 1							152	142	145					17																	57842439		2203	4300	6503	SO:0001819	synonymous_variant	81671				autophagy|cell adhesion	endoplasmic reticulum|ER-Golgi intermediate compartment membrane|integral to membrane|plasma membrane|vacuolar membrane		g.chr17:57842439T>G		CCDS11619.1	17q23.1	2014-05-20	2011-03-02	2011-03-02	ENSG00000062716	ENSG00000062716			29559	protein-coding gene	gene with protein product	"ectopic P-granules autophagy protein 3 homolog (C. elegans)", "transport and golgi organization 5 homolog (Drosophila)"	611753	"transmembrane protein 49"	TMEM49		11230166, 11785947	Standard	NM_030938		Approved	EPG3, TANGO5	uc002ixu.4	Q96GC9	OTTHUMG00000179882	ENST00000262291.4:c.522T>G	17.37:g.57842439T>G						VMP1_ENST00000539763.1_5'UTR|VMP1_ENST00000545362.1_Intron|VMP1_ENST00000537567.1_Silent_p.T40T|VMP1_ENST00000536180.1_Silent_p.T77T	p.T174T	NM_030938.3	NP_112200.2	Q96GC9	VMP1_HUMAN			6	832	+			174					B4DVV9|Q9H0P4|Q9P089	Silent	SNP	ENST00000262291.4	37	c.522T>G	CCDS11619.1																																																																																				0.373	VMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448793.1	NM_030938		8	86	0	0	0	1	0	8	86					G	57842439	T	G	57842439	2	3	326	1	0	0	0	0	0	0	0	1	16170	1567	55	5		5	TMEM49	17	57842439	Silent	SNP	T	TCGA-KK-A7AZ-01A-12D-A32B-08		57842439	23352771	36	16695											
EFCAB3	146779	broad.mit.edu	37	chr17	60483903	60483903	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gtggagtccctacactatggGctatggaaaaaggacactta	13	9	11	8	0	0	0	0	0	0	0	1	3	1	3	1	4	1	1	1	4	6	4			TCGA-KK-A7AZ-01A-12D-A32B-08	TCGA-KK-A7AZ-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f1c7f2a-40c5-45f3-8d16-a57db576d7a8	264de6e7-6977-404f-94eb-1bfbedd5a1e7	g.chr17:60483903G>T	ENST00000305286.3	+	7	629	c.551G>T	c.(550-552)gGc>gTc	p.G184V	EFCAB3_ENST00000450662.2_Missense_Mutation_p.G236V	NM_173503.3	NP_775774.1	Q8N7B9	EFCB3_HUMAN	EF-hand calcium binding domain 3	184							calcium ion binding (GO:0005509)			cervix(1)|endometrium(2)|large_intestine(5)|lung(6)|skin(3)	17			BRCA - Breast invasive adenocarcinoma(2;2.27e-11)			TACACTATGGGCTATGGAAAA	0.408																																						ENST00000450662.2																			0				cervix(1)|endometrium(2)|large_intestine(5)|lung(6)|skin(3)	17						c.(706-708)gGc>gTc		EF-hand calcium binding domain 3							63	57	59					17																	60483903		2203	4300	6503	SO:0001583	missense	146779						calcium ion binding	g.chr17:60483903G>T	AK098684	CCDS11632.1, CCDS45751.1	17q23.3	2013-01-10			ENSG00000172421	ENSG00000172421		"EF-hand domain containing"	26379	protein-coding gene	gene with protein product						12477932	Standard	NM_173503		Approved	FLJ25818	uc010wpc.2	Q8N7B9	OTTHUMG00000179175	ENST00000305286.3:c.551G>T	17.37:g.60483903G>T	ENSP00000302649:p.Gly184Val					EFCAB3_ENST00000305286.3_Missense_Mutation_p.G184V	p.G236V	NM_001144933.1	NP_001138405.1	Q8N7B9	EFCB3_HUMAN	BRCA - Breast invasive adenocarcinoma(2;2.27e-11)		9	778	+			184					J3KQM8	Missense_Mutation	SNP	ENST00000305286.3	37	c.707G>T	CCDS11632.1	.	.	.	.	.	.	.	.	.	.	G	11.12	1.545142	0.27652	.	.	ENSG00000172421	ENST00000450662;ENST00000305286	T;T	0.58940	0.3;0.32	4.95	-1.46	0.08800	.	0.896444	0.09584	N	0.782378	T	0.45418	0.1341	M	0.65498	2.005	0.27162	N	0.961145	P	0.44877	0.845	B	0.33750	0.169	T	0.40739	-0.9547	10	0.59425	D	0.04	.	4.6346	0.12518	0.4775:0.1641:0.3584:0.0	.	184	Q8N7B9	EFCB3_HUMAN	V	236;184	ENSP00000403932:G236V;ENSP00000302649:G184V	ENSP00000302649:G184V	G	+	2	0	EFCAB3	57837635	0.422000	0.25473	0.119000	0.21687	0.026000	0.11368	-0.090000	0.11163	-0.404000	0.07610	0.591000	0.81541	GGC		0.408	EFCAB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379114.1	NM_173503		21	31	1	0	1.01871e-10	1	1.09707e-10	21	31					T	60483903	G	T	60483903	3	4	326	1	0	0	0	0	1	0	0	0	4935	1203	42	5	741	5	EFCAB3	17	60483903	Missense_Mutation	SNP	G	TCGA-KK-A7AZ-01A-12D-A32B-08	2641464	60483903	20711307	37	16696											
EEF2	1938	broad.mit.edu	37	chr19	3984159	3984159	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cttgatggtgatgcaacgctCctgctcgtccttccgggtat	5	13	11	12	3	0	2	0	2	0	0	4	2	3	2	3	2	3	4	3	2	2	3			TCGA-KK-A7AZ-01A-12D-A32B-08	TCGA-KK-A7AZ-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f1c7f2a-40c5-45f3-8d16-a57db576d7a8	264de6e7-6977-404f-94eb-1bfbedd5a1e7	g.chr19:3984159C>A	ENST00000309311.6	-	2	281	c.193G>T	c.(193-195)Gag>Tag	p.E65*	EEF2_ENST00000600720.1_5'UTR|SNORD37_ENST00000384048.1_RNA	NM_001961.3	NP_001952.1	P13639	EF2_HUMAN	eukaryotic translation elongation factor 2	65	tr-type G. {ECO:0000255|PROSITE- ProRule:PRU01059}.				cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|hematopoietic progenitor cell differentiation (GO:0002244)|positive regulation of gene expression (GO:0010628)|positive regulation of translation (GO:0045727)|translation (GO:0006412)|translational elongation (GO:0006414)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|polysome (GO:0005844)|ribonucleoprotein complex (GO:0030529)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|translation activator activity (GO:0008494)|translation elongation factor activity (GO:0003746)			endometrium(4)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|GBM - Glioblastoma multiforme(1328;0.0223)|STAD - Stomach adenocarcinoma(1328;0.18)		ATGCAACGCTCCTGCTCGTCC	0.657																																					Colon(165;1804 1908 4071 6587 18799)	ENST00000309311.6																			0				endometrium(4)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21						c.(193-195)Gag>Tag		eukaryotic translation elongation factor 2							106	95	99					19																	3984159		2203	4300	6503	SO:0001587	stop_gained	1938					cytosol|ribonucleoprotein complex	GTP binding|GTPase activity|protein binding|translation elongation factor activity	g.chr19:3984159C>A	Z11692	CCDS12117.1	19p13.3	2012-09-20			ENSG00000167658	ENSG00000167658			3214	protein-coding gene	gene with protein product	"polypeptidyl-tRNA translocase"	130610		EF2		2610926, 6427766	Standard	NM_001961		Approved	EEF-2	uc002lze.3	P13639		ENST00000309311.6:c.193G>T	19.37:g.3984159C>A	ENSP00000307940:p.Glu65*					EEF2_ENST00000600720.1_5'UTR	p.E65*	NM_001961.3	NP_001952.1	P13639	EF2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|GBM - Glioblastoma multiforme(1328;0.0223)|STAD - Stomach adenocarcinoma(1328;0.18)	2	281	-		Hepatocellular(1079;0.137)	65					B2RMP5|D6W618|Q58J86	Nonsense_Mutation	SNP	ENST00000309311.6	37	c.193G>T	CCDS12117.1	.	.	.	.	.	.	.	.	.	.	C	39	7.408255	0.98265	.	.	ENSG00000167658	ENST00000543343;ENST00000309311	.	.	.	5.34	5.34	0.76211	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-63.1855	18.0214	0.89255	0.0:1.0:0.0:0.0	.	.	.	.	X	65	.	ENSP00000307940:E65X	E	-	1	0	EEF2	3935159	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	7.599000	0.82757	2.489000	0.83994	0.655000	0.94253	GAG		0.657	EEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457615.2	NM_001961		23	42	1	0	1.85244e-09	1	1.9573e-09	23	42					A	3984159	C	A	3984159	4	1	326	1	0	0	0	0	0	1	0	0	4929	864	30	5	2439	5	EEF2	19	3984159	Nonsense_Mutation	SNP	C	TCGA-KK-A7AZ-01A-12D-A32B-08		3984159	55144824	38	16697											
FBN3	84467	broad.mit.edu	37	chr19	8174609	8174609	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atgcacacgccgttgatgcaGtttactgggtctgcacactc	8	11	10	12	2	1	1	0	1	1	0	2	1	1	1	1	1	4	5	1	1	1	3			TCGA-KK-A7AZ-01A-12D-A32B-08	TCGA-KK-A7AZ-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f1c7f2a-40c5-45f3-8d16-a57db576d7a8	264de6e7-6977-404f-94eb-1bfbedd5a1e7	g.chr19:8174609G>T	ENST00000600128.1	-	35	4776	c.4362C>A	c.(4360-4362)aaC>aaA	p.N1454K	FBN3_ENST00000601739.1_Missense_Mutation_p.N1454K|FBN3_ENST00000270509.2_Missense_Mutation_p.N1454K			Q75N90	FBN3_HUMAN	fibrillin 3	1454	EGF-like 23; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.					proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						CGTTGATGCAGTTTACTGGGT	0.622																																						ENST00000600128.1																			0				NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						c.(4360-4362)aaC>aaA		fibrillin 3							134	126	129					19																	8174609		2203	4300	6503	SO:0001583	missense	84467					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent	g.chr19:8174609G>T		CCDS12196.1	19p13	2008-02-05							18794	protein-coding gene	gene with protein product		608529					Standard	NM_032447		Approved		uc002mjf.3	Q75N90		ENST00000600128.1:c.4362C>A	19.37:g.8174609G>T	ENSP00000470498:p.Asn1454Lys					FBN3_ENST00000601739.1_Missense_Mutation_p.N1454K|FBN3_ENST00000270509.2_Missense_Mutation_p.N1454K	p.N1454K			Q75N90	FBN3_HUMAN			35	4776	-			1454			EGF-like 23; calcium-binding.		Q75N91|Q75N92|Q75N93|Q86SJ5|Q96JP8	Missense_Mutation	SNP	ENST00000600128.1	37	c.4362C>A	CCDS12196.1	.	.	.	.	.	.	.	.	.	.	G	12.25	1.881918	0.33255	.	.	ENSG00000142449	ENST00000270509	D	0.94232	-3.38	3.79	1.47	0.22746	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	U	0.000000	D	0.89750	0.6805	L	0.28054	0.825	0.47511	D	0.999443	D	0.61697	0.99	P	0.54759	0.76	D	0.84681	0.0717	10	0.17369	T	0.5	.	9.1477	0.36944	0.0878:0.1487:0.7635:0.0	.	1454	Q75N90	FBN3_HUMAN	K	1454	ENSP00000270509:N1454K	ENSP00000270509:N1454K	N	-	3	2	FBN3	8080609	1.000000	0.71417	0.922000	0.36590	0.025000	0.11179	4.272000	0.58908	0.667000	0.31107	0.484000	0.47621	AAC		0.622	FBN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461428.2	NM_032447		82	114	1	0	4.69036e-40	1	5.2532e-40	82	114					T	8174609	G	T	8174609	3	4	326	1	0	0	0	0	1	0	0	0	5704	1020	36	5	4187	5	FBN3	19	8174609	Missense_Mutation	SNP	G	TCGA-KK-A7AZ-01A-12D-A32B-08	4190450	8174609	50954374	39	16698											
SIGLEC10	89790	broad.mit.edu	37	chr19	51920435	51920435	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgactcatcctgcatctgcgCgtctctgatcaccaaggagc	8	10	9	14	2	4	2	2	2	2	0	6	3	5	3	2	1	3	1	2	1	1	0			TCGA-KK-A7AZ-01A-12D-A32B-08	TCGA-KK-A7AZ-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f1c7f2a-40c5-45f3-8d16-a57db576d7a8	264de6e7-6977-404f-94eb-1bfbedd5a1e7	g.chr19:51920435C>T	ENST00000339313.5	-	2	438	c.322G>A	c.(322-324)Gcg>Acg	p.A108T	SIGLEC10_ENST00000353836.5_Missense_Mutation_p.A108T|SIGLEC10_ENST00000439889.2_Missense_Mutation_p.A108T|SIGLEC10_ENST00000436984.2_Missense_Mutation_p.A108T|SIGLEC10_ENST00000432469.2_Missense_Mutation_p.A108T|CTD-2616J11.2_ENST00000532688.1_RNA|SIGLEC10_ENST00000356298.5_Missense_Mutation_p.A108T|CTD-2616J11.2_ENST00000526996.1_RNA|CTD-2616J11.3_ENST00000532473.1_RNA|SIGLEC10_ENST00000442846.3_Missense_Mutation_p.A108T|SIGLEC10_ENST00000525998.1_Missense_Mutation_p.A108T|SIGLEC10_ENST00000441969.3_Missense_Mutation_p.A108T			Q96LC7	SIG10_HUMAN	sialic acid binding Ig-like lectin 10	108	Ig-like V-type.				cell adhesion (GO:0007155)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(27)|ovary(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000668)|OV - Ovarian serous cystadenocarcinoma(262;0.0101)		TGCATCTGCGCGTCTCTGATC	0.517																																						ENST00000353836.5																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(27)|ovary(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						c.(322-324)Gcg>Acg		sialic acid binding Ig-like lectin 10							69	69	69					19																	51920435		2203	4300	6503	SO:0001583	missense	89790				cell adhesion	extracellular region|integral to membrane|plasma membrane	sugar binding	g.chr19:51920435C>T	AF310233	CCDS12832.1, CCDS54301.1, CCDS54302.1, CCDS54303.1, CCDS54304.1, CCDS54305.1	19q13.3	2013-01-29			ENSG00000142512	ENSG00000142512		"Sialic acid binding Ig-like lectins", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	15620	protein-coding gene	gene with protein product	"sialic acid binding Ig-like lectin 10 Ig-like lectin 7", "siglec-like gene 2"	606091				11284738	Standard	NM_033130		Approved	SIGLEC-10, SLG2, PRO940, MGC126774	uc002pwo.3	Q96LC7	OTTHUMG00000165521	ENST00000339313.5:c.322G>A	19.37:g.51920435C>T	ENSP00000345243:p.Ala108Thr					SIGLEC10_ENST00000356298.5_Missense_Mutation_p.A108T|SIGLEC10_ENST00000441969.3_Missense_Mutation_p.A108T|CTD-2616J11.2_ENST00000532688.1_RNA|SIGLEC10_ENST00000439889.2_Missense_Mutation_p.A108T|SIGLEC10_ENST00000432469.2_Missense_Mutation_p.A108T|SIGLEC10_ENST00000525998.1_Missense_Mutation_p.A108T|SIGLEC10_ENST00000436984.2_Missense_Mutation_p.A108T|SIGLEC10_ENST00000339313.5_Missense_Mutation_p.A108T|SIGLEC10_ENST00000442846.3_Missense_Mutation_p.A108T	p.A108T	NM_001171157.1|NM_001171158.1|NM_001171159.1	NP_001164628.1|NP_001164629.1|NP_001164630.1	Q96LC7	SIG10_HUMAN		GBM - Glioblastoma multiforme(134;0.000668)|OV - Ovarian serous cystadenocarcinoma(262;0.0101)	2	543	-		all_neural(266;0.0199)	108			Ig-like V-type.		A8K1I5|A8K3C7|C9JJ33|C9JM10|F8W917|Q3MIR5|Q6UXI8|Q96G54|Q96LC8	Missense_Mutation	SNP	ENST00000339313.5	37	c.322G>A	CCDS12832.1	.	.	.	.	.	.	.	.	.	.	.	19.60	3.857497	0.71834	.	.	ENSG00000142512	ENST00000353836;ENST00000432469;ENST00000442846;ENST00000356298;ENST00000441969;ENST00000525998;ENST00000439889;ENST00000436984;ENST00000339313;ENST00000530476	T;T;T;T;T;T;T;T;T;T	0.65732	-0.17;-0.17;-0.17;-0.17;-0.17;-0.17;-0.17;-0.17;-0.17;-0.17	4.92	4.92	0.64577	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like fold (1);	0.610455	0.15571	N	0.255453	T	0.78046	0.4222	M	0.80422	2.495	0.09310	N	1	D;D;D;P;D;D;D	0.89917	0.99;0.999;0.999;0.873;1.0;0.998;0.995	P;D;P;B;D;P;D	0.69142	0.831;0.962;0.872;0.319;0.928;0.823;0.961	T	0.68938	-0.5277	10	0.32370	T	0.25	.	13.6027	0.62029	0.0:1.0:0.0:0.0	.	108;108;108;108;108;108;108	C9JM10;E9PL79;C9JJ33;Q96LC7-2;Q96LC7-6;Q96LC7-3;Q96LC7	.;.;.;.;.;.;SIG10_HUMAN	T	108;108;108;108;108;108;108;108;108;75	ENSP00000342389:A108T;ENSP00000396742:A108T;ENSP00000395475:A108T;ENSP00000348646:A108T;ENSP00000408387:A108T;ENSP00000431444:A108T;ENSP00000389132:A108T;ENSP00000414324:A108T;ENSP00000345243:A108T;ENSP00000433838:A75T	ENSP00000345243:A108T	A	-	1	0	SIGLEC10	56612247	0.005000	0.15991	0.008000	0.14137	0.012000	0.07955	2.222000	0.42926	2.272000	0.75746	0.313000	0.20887	GCG		0.517	SIGLEC10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000384620.2	NM_033130		25	47	0	0	0	1	0	25	47					T	51920435	C	T	51920435	3	4	326	1	0	0	0	0	1	0	0	0	14306	768	27	1	1811	1	SIGLEC10	19	51920435	Missense_Mutation	SNP	C	TCGA-KK-A7AZ-01A-12D-A32B-08	43745826	51920435	7208548	40	16699											
YTHDF1	54915	broad.mit.edu	37	chr20	61834477	61834477	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gccccttgttatcccaggtgCcaatgtccatgttatgcttt	6	15	8	12	0	0	0	0	0	0	0	2	0	2	0	5	1	2	3	5	1	3	4			TCGA-KK-A7AZ-01A-12D-A32B-08	TCGA-KK-A7AZ-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f1c7f2a-40c5-45f3-8d16-a57db576d7a8	264de6e7-6977-404f-94eb-1bfbedd5a1e7	g.chr20:61834477C>T	ENST00000370339.3	-	4	1156	c.815G>A	c.(814-816)gGc>gAc	p.G272D	YTHDF1_ENST00000370334.4_Intron|YTHDF1_ENST00000370333.4_Missense_Mutation_p.G222D	NM_017798.3	NP_060268.2	Q9BYJ9	YTHD1_HUMAN	YTH domain family, member 1	272	Gln/Pro-rich.						N6-methyladenosine-containing RNA binding (GO:1990247)|poly(A) RNA binding (GO:0044822)	p.G90D(1)|p.G272D(1)		NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)	24						ATCCCAGGTGCCAATGTCCAT	0.612																																						ENST00000370339.3																			2	Substitution - Missense(2)	p.G90D(1)|p.G272D(1)	endometrium(2)	NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)	24						c.(814-816)gGc>gAc		YTH domain family, member 1							72	82	78					20																	61834477		2202	4299	6501	SO:0001583	missense	54915							g.chr20:61834477C>T	AK000398	CCDS13511.1	20q13.33	2010-03-15	2004-11-16	2004-06-04	ENSG00000149658	ENSG00000149658			15867	protein-coding gene	gene with protein product			"YTH domain family 1"	C20orf21			Standard	NM_017798		Approved	FLJ20391	uc002yeh.3	Q9BYJ9	OTTHUMG00000032955	ENST00000370339.3:c.815G>A	20.37:g.61834477C>T	ENSP00000359364:p.Gly272Asp					YTHDF1_ENST00000370334.4_Intron|YTHDF1_ENST00000370333.4_Missense_Mutation_p.G222D	p.G272D	NM_017798.3	NP_060268.2	Q9BYJ9	YTHD1_HUMAN			4	1156	-			272			Gln/Pro-rich.		Q8N3G5|Q8TBT1|Q96AN4|Q96S57|Q9BTI7|Q9NX79	Missense_Mutation	SNP	ENST00000370339.3	37	c.815G>A	CCDS13511.1	.	.	.	.	.	.	.	.	.	.	C	14.37	2.515115	0.44763	.	.	ENSG00000149658	ENST00000370339;ENST00000370333;ENST00000342761	T;T	0.47869	0.83;0.83	5.15	4.21	0.49690	.	0.045465	0.85682	D	0.000000	T	0.39306	0.1073	L	0.41415	1.275	0.80722	D	1	P	0.35959	0.53	B	0.33339	0.162	T	0.36962	-0.9726	10	0.62326	D	0.03	-26.6943	13.8159	0.63292	0.0:0.9257:0.0:0.0743	.	272	Q9BYJ9	YTHD1_HUMAN	D	272;222;88	ENSP00000359364:G272D;ENSP00000359358:G222D	ENSP00000339489:G88D	G	-	2	0	YTHDF1	61304922	1.000000	0.71417	0.995000	0.50966	0.889000	0.51656	5.958000	0.70330	1.168000	0.42723	0.491000	0.48974	GGC		0.612	YTHDF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080110.2	NM_017798		55	97	0	0	0	1	0	55	97					T	61834477	C	T	61834477	3	4	326	1	0	0	0	0	1	0	0	0	17495	739	26	3	872	3	YTHDF1	20	61834477	Missense_Mutation	SNP	C	TCGA-KK-A7AZ-01A-12D-A32B-08		61834477	1191043	41	16700											
IGSF5	150084	broad.mit.edu	37	chr21	41143130	41143130	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctgtaaatctcactgtgattCggtgtccccaaggtaagtga	10	12	10	9	1	1	2	1	2	1	0	4	2	2	2	2	2	0	2	2	2	4	3			TCGA-KK-A7AZ-01A-12D-A32B-08	TCGA-KK-A7AZ-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f1c7f2a-40c5-45f3-8d16-a57db576d7a8	264de6e7-6977-404f-94eb-1bfbedd5a1e7	g.chr21:41143130C>T	ENST00000380588.4	+	4	809	c.706C>T	c.(706-708)Cgg>Tgg	p.R236W	IGSF5_ENST00000479378.1_3'UTR	NM_001080444.1	NP_001073913.1	Q9NSI5	IGSF5_HUMAN	immunoglobulin superfamily, member 5	236					single organismal cell-cell adhesion (GO:0016337)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)		p.R236W(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(7)|skin(2)|stomach(1)	23		Prostate(19;5.35e-06)				CACTGTGATTCGGTGTCCCCA	0.468																																						ENST00000380588.4																			1	Substitution - Missense(1)	p.R236W(1)	large_intestine(1)	breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(7)|skin(2)|stomach(1)	23						c.(706-708)Cgg>Tgg		immunoglobulin superfamily, member 5							70	71	71					21																	41143130		2203	4300	6503	SO:0001583	missense	150084					integral to membrane|tight junction		g.chr21:41143130C>T		CCDS33562.1	21q22.2	2013-01-29			ENSG00000183067	ENSG00000183067		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5952	protein-coding gene	gene with protein product	"junctional adhesion molecule 4"	610638					Standard	NM_001080444		Approved	JAM4	uc002yyo.3	Q9NSI5	OTTHUMG00000086724	ENST00000380588.4:c.706C>T	21.37:g.41143130C>T	ENSP00000369962:p.Arg236Trp					IGSF5_ENST00000479378.1_3'UTR	p.R236W	NM_001080444.1	NP_001073913.1	Q9NSI5	IGSF5_HUMAN			4	809	+		Prostate(19;5.35e-06)	236						Missense_Mutation	SNP	ENST00000380588.4	37	c.706C>T	CCDS33562.1	.	.	.	.	.	.	.	.	.	.	C	11.73	1.724611	0.30593	.	.	ENSG00000183067	ENST00000380588	T	0.09538	2.97	5.0	3.0	0.34707	.	1.117700	0.06543	N	0.743558	T	0.11922	0.0290	N	0.08118	0	0.09310	N	1	D	0.76494	0.999	P	0.58577	0.841	T	0.38023	-0.9680	10	0.37606	T	0.19	-0.7271	6.9174	0.24367	0.243:0.5837:0.1734:0.0	.	236	Q9NSI5	IGSF5_HUMAN	W	236	ENSP00000369962:R236W	ENSP00000369962:R236W	R	+	1	2	IGSF5	40065000	0.000000	0.05858	0.002000	0.10522	0.003000	0.03518	0.406000	0.21032	1.406000	0.46857	0.655000	0.94253	CGG		0.468	IGSF5-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195005.1			5	85	0	0	0	1	0	5	85					T	41143130	C	T	41143130	3	4	326	1	0	0	0	0	1	0	0	0	7602	875	31	2	720	2	IGSF5	21	41143130	Missense_Mutation	SNP	C	TCGA-KK-A7AZ-01A-12D-A32B-08		41143130	6986765	42	16701											
OCRL	4952	broad.mit.edu	37	chrX	128724236	128724236	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgggctttctgcttgggagcGaagaagactaaggcttttac	9	12	13	7	1	1	2	0	0	1	2	1	4	1	3	0	3	3	3	0	3	4	5			TCGA-KK-A7AZ-01A-12D-A32B-08	TCGA-KK-A7AZ-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f1c7f2a-40c5-45f3-8d16-a57db576d7a8	264de6e7-6977-404f-94eb-1bfbedd5a1e7	g.chrX:128724236G>A	ENST00000371113.4	+	24	2860	c.2695G>A	c.(2695-2697)Gaa>Aaa	p.E899K	OCRL_ENST00000357121.5_Missense_Mutation_p.E891K	NM_000276.3	NP_000267.2	Q01968	OCRL_HUMAN	oculocerebrorenal syndrome of Lowe	899	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				cilium assembly (GO:0042384)|in utero embryonic development (GO:0001701)|inositol phosphate metabolic process (GO:0043647)|lipid metabolic process (GO:0006629)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|positive regulation of Rac GTPase activity (GO:0032855)|regulation of Rac GTPase activity (GO:0032314)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|Golgi stack (GO:0005795)|Golgi-associated vesicle (GO:0005798)|nucleus (GO:0005634)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	inositol phosphate phosphatase activity (GO:0052745)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)|Rac GTPase activator activity (GO:0030675)|Rac GTPase binding (GO:0048365)			breast(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(24)|ovary(2)|upper_aerodigestive_tract(3)	48						GCTTGGGAGCGAAGAAGACTA	0.478																																						ENST00000371113.4																			0				breast(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(24)|ovary(2)|upper_aerodigestive_tract(3)	48						c.(2695-2697)Gaa>Aaa		oculocerebrorenal syndrome of Lowe							181	178	179					X																	128724236		2203	4300	6503	SO:0001583	missense	4952				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	clathrin-coated vesicle|cytosol|early endosome|Golgi stack|Golgi-associated vesicle	GTPase activator activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|protein binding	g.chrX:128724236G>A	U57627	CCDS35393.1, CCDS35394.1	Xq25	2014-06-18			ENSG00000122126	ENSG00000122126			8108	protein-coding gene	gene with protein product		300535					Standard	NM_001587		Approved	OCRL1	uc004euq.3	Q01968	OTTHUMG00000022706	ENST00000371113.4:c.2695G>A	X.37:g.128724236G>A	ENSP00000360154:p.Glu899Lys					OCRL_ENST00000357121.5_Missense_Mutation_p.E891K	p.E899K	NM_000276.3	NP_000267.2	Q01968	OCRL_HUMAN			24	2860	+			899			Rho-GAP.		A6NKI1|A8KAP2|B7ZLX2|O60800|Q15684|Q15774|Q4VY09|Q4VY10|Q5JQF1|Q5JQF2|Q9UJG5|Q9UMA5	Missense_Mutation	SNP	ENST00000371113.4	37	c.2695G>A	CCDS35393.1	.	.	.	.	.	.	.	.	.	.	G	19.51	3.841743	0.71488	.	.	ENSG00000122126	ENST00000371113;ENST00000357121	D;D	0.94537	-3.44;-3.45	5.5	5.5	0.81552	Rho GTPase-activating protein domain (1);	0.176566	0.49916	D	0.000122	D	0.87557	0.6207	N	0.24115	0.695	0.52099	D	0.999943	P;B	0.39696	0.683;0.149	B;B	0.21546	0.035;0.022	D	0.87299	0.2304	10	0.25751	T	0.34	.	17.3313	0.87265	0.0:0.0:1.0:0.0	.	891;899	Q01968-2;Q01968	.;OCRL_HUMAN	K	899;891	ENSP00000360154:E899K;ENSP00000349635:E891K	ENSP00000349635:E891K	E	+	1	0	OCRL	128551917	1.000000	0.71417	0.451000	0.26982	0.951000	0.60555	7.088000	0.76901	2.305000	0.77605	0.600000	0.82982	GAA		0.478	OCRL-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058917.1	NM_000276		13	138	0	0	0	1	0	13	138					A	128724236	G	A	128724236	3	1	326	1	0	0	0	0	1	0	0	0	10823	1059	37	2	2789	2	OCRL	23	128724236	Missense_Mutation	SNP	G	TCGA-KK-A7AZ-01A-12D-A32B-08		128724236	26546324	43	16702											
PASD1	139135	broad.mit.edu	37	chrX	150770053	150770053	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgagaggggaaaagagaagaGgtatgcattcataactgact	16	8	13	4	0	1	4	1	2	0	3	1	7	1	5	0	3	2	2	0	3	5	3			TCGA-KK-A7AZ-01A-12D-A32B-08	TCGA-KK-A7AZ-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f1c7f2a-40c5-45f3-8d16-a57db576d7a8	264de6e7-6977-404f-94eb-1bfbedd5a1e7	g.chrX:150770053G>A	ENST00000370357.4	+	2	273	c.28G>A	c.(28-30)Gac>Aac	p.D10N		NM_173493.2	NP_775764.2	Q8IV76	PASD1_HUMAN	PAS domain containing 1	10						nucleus (GO:0005634)	signal transducer activity (GO:0004871)			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48	Acute lymphoblastic leukemia(192;6.56e-05)					AAAGAGAAGAGGTATGCATTC	0.428																																						ENST00000370357.4																			0				breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48						c.e2+1		PAS domain containing 1							154	116	129					X																	150770053		2203	4300	6503	SO:0001630	splice_region_variant	139135					nucleus	signal transducer activity	g.chrX:150770053G>A	AY270020	CCDS35431.1	Xq28	2009-08-06			ENSG00000166049	ENSG00000166049			20686	protein-coding gene	gene with protein product	"cancer/testis antigen 63"					15122589, 15162151	Standard	NM_173493		Approved	CT63	uc004fev.4	Q8IV76	OTTHUMG00000024169	ENST00000370357.4:c.28+1G>A	X.37:g.150770053G>A							p.D10_splice	NM_173493.2	NP_775764.2	Q8IV76	PASD1_HUMAN			2	273	+	Acute lymphoblastic leukemia(192;6.56e-05)		10					Q3MNE0|Q69HD7|Q8N7X9	Splice_Site	SNP	ENST00000370357.4	37	c.28_splice	CCDS35431.1	.	.	.	.	.	.	.	.	.	.	G	10.77	1.443940	0.25987	.	.	ENSG00000166049	ENST00000370357	T	0.68765	-0.35	4.96	4.08	0.47627	.	.	.	.	.	T	0.51736	0.1692	L	0.36672	1.1	0.80722	D	1	P	0.52316	0.952	B	0.44315	0.446	T	0.55798	-0.8084	9	0.02654	T	1	.	9.8824	0.41242	0.0:0.0:0.7956:0.2044	.	10	Q8IV76	PASD1_HUMAN	N	10	ENSP00000359382:D10N	ENSP00000359382:D10N	D	+	1	0	PASD1	150520709	1.000000	0.71417	0.547000	0.28179	0.040000	0.13550	2.528000	0.45624	0.965000	0.38133	0.544000	0.68410	GAC		0.428	PASD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060879.2	NM_173493	Missense_Mutation	3	52	0	0	0	1	0	3	52					A	150770053	G	A	150770053	5	1	326	1	0	0	0	0	0	0	1	0	11471	1014	35	3	30	3	PASD1	23	150770053	Splice_Site	SNP	G	TCGA-KK-A7AZ-01A-12D-A32B-08	22045817	150770053	4500507	44	16703											
COL24A1	255631	broad.mit.edu	37	chr1	86340995	86340995	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	accttgcagaccagactctcCctcagtgcctggaggtccct	7	9	9	16	0	2	2	1	0	1	2	4	3	3	3	5	2	2	1	5	2	0	1	rs377129438		TCGA-KK-A7B0-01A-11D-A32B-08	TCGA-KK-A7B0-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	379f2694-a7e1-4f6f-98c1-aabaa42f883c	b2e1507b-1fa5-4368-a706-2eee5e98d006	g.chr1:86340995C>T	ENST00000370571.2	-	34	3415	c.3049G>A	c.(3049-3051)Gga>Aga	p.G1017R	COL24A1_ENST00000436319.1_Missense_Mutation_p.G1017R	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1	1017	Collagen-like 9.				extracellular matrix organization (GO:0030198)|hematopoietic progenitor cell differentiation (GO:0002244)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)			NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		CCAGACTCTCCCTCAGTGCCT	0.428																																						ENST00000370571.2																			0				NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101						c.(3049-3051)Gga>Aga		collagen, type XXIV, alpha 1		C	ARG/GLY	0,3786		0,0,1893	80	78	78		3049	5.8	1	1		78	1,8235		0,1,4117	no	missense	COL24A1	NM_152890.5	125	0,1,6010	TT,TC,CC		0.0121,0.0,0.0083	probably-damaging	1017/1715	86340995	1,12021	1893	4118	6011	SO:0001583	missense	255631				cell adhesion	collagen	extracellular matrix structural constituent	g.chr1:86340995C>T	AF410793	CCDS41353.1	1p22.3-p22.2	2013-01-16			ENSG00000171502	ENSG00000171502		"Collagens"	20821	protein-coding gene	gene with protein product		610025					Standard	NM_152890		Approved		uc001dlj.3	Q17RW2	OTTHUMG00000010629	ENST00000370571.2:c.3049G>A	1.37:g.86340995C>T	ENSP00000359603:p.Gly1017Arg					COL24A1_ENST00000436319.1_Missense_Mutation_p.G1017R	p.G1017R	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN		all cancers(265;0.0627)|Epithelial(280;0.0689)	34	3415	-			1017			Collagen-like 9.		C9J1X6|Q14BD7|Q59EX5|Q5VY50|Q7Z5L5	Missense_Mutation	SNP	ENST00000370571.2	37	c.3049G>A	CCDS41353.1	.	.	.	.	.	.	.	.	.	.	C	16.23	3.063775	0.55432	0.0	1.21E-4	ENSG00000171502	ENST00000370571;ENST00000436319	D;D	0.99637	-6.29;-6.11	5.82	5.82	0.92795	.	0.198195	0.24896	N	0.034733	D	0.99792	0.9912	H	0.96239	3.79	0.58432	D	0.999992	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.97411	1.0002	10	0.87932	D	0	.	15.5931	0.76554	0.0:1.0:0.0:0.0	.	1017;1017	Q17RW2;Q17RW2-2	COOA1_HUMAN;.	R	1017	ENSP00000359603:G1017R;ENSP00000392531:G1017R	ENSP00000359603:G1017R	G	-	1	0	COL24A1	86113583	1.000000	0.71417	0.999000	0.59377	0.939000	0.58152	4.119000	0.57891	2.756000	0.94617	0.561000	0.74099	GGA		0.428	COL24A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029335.4	NM_152890		3	35	0	0	0	1	0	3	35					T	86340995	C	T	86340995	3	4	327	1	0	0	0	0	1	0	0	0	3683	632	22	3	2203	3	COL24A1	1	86340995	Missense_Mutation	SNP	C	TCGA-KK-A7B0-01A-11D-A32B-08		86340995	162909626	1	16704											
TTF2	8458	broad.mit.edu	37	chr1	117619327	117619327	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ttcaccaaaactaccactggCcctccccacctggtgcctcc	8	8	5	20	0	1	0	1	0	0	0	3	0	3	0	8	2	3	0	8	2	3	2			TCGA-KK-A7B0-01A-11D-A32B-08	TCGA-KK-A7B0-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	379f2694-a7e1-4f6f-98c1-aabaa42f883c	b2e1507b-1fa5-4368-a706-2eee5e98d006	g.chr1:117619327C>T	ENST00000369466.4	+	7	1499	c.1455C>T	c.(1453-1455)ggC>ggT	p.G485G		NM_003594.3	NP_003585.3	Q9UNY4	TTF2_HUMAN	transcription termination factor, RNA polymerase II	485					ATP catabolic process (GO:0006200)|DNA-templated transcription, termination (GO:0006353)|mRNA processing (GO:0006397)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)	cytoplasm (GO:0005737)|spliceosomal complex (GO:0005681)|transcription elongation factor complex (GO:0008023)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(24)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	50	Lung SC(450;0.225)	all_cancers(81;4.23e-06)|all_epithelial(167;3.65e-07)|all_lung(203;2.81e-06)|Lung NSC(69;1.98e-05)		Lung(183;0.0553)|Colorectal(144;0.179)|LUSC - Lung squamous cell carcinoma(189;0.19)		CTACCACTGGCCCTCCCCACC	0.517																																						ENST00000369466.3																			0				NS(1)|autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(24)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	50						c.(1453-1455)ggC>ggT		transcription termination factor, RNA polymerase II							101	97	98					1																	117619327		2203	4300	6503	SO:0001819	synonymous_variant	8458				mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|termination of RNA polymerase II transcription	cytoplasm|spliceosomal complex|transcription elongation factor complex	ATP binding|ATP-dependent helicase activity|DNA binding|DNA-dependent ATPase activity|protein binding|zinc ion binding	g.chr1:117619327C>T	AF073771	CCDS892.1	1p13.1	2014-02-18			ENSG00000116830	ENSG00000116830			12398	protein-coding gene	gene with protein product	"zinc finger, GRF-type containing 6"	604718				9748214	Standard	NM_003594		Approved	HuF2, ZGRF6	uc001egy.3	Q9UNY4	OTTHUMG00000012030	ENST00000369466.4:c.1455C>T	1.37:g.117619327C>T							p.G485G	NM_003594.3	NP_003585.3	Q9UNY4	TTF2_HUMAN		Lung(183;0.0553)|Colorectal(144;0.179)|LUSC - Lung squamous cell carcinoma(189;0.19)	7	1499	+	Lung SC(450;0.225)	all_cancers(81;4.23e-06)|all_epithelial(167;3.65e-07)|all_lung(203;2.81e-06)|Lung NSC(69;1.98e-05)	485					A8K4Q2|O75921|Q5T2K7|Q5VVU8|Q8N6I8	Silent	SNP	ENST00000369466.4	37	c.1455C>T	CCDS892.1																																																																																				0.517	TTF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033277.3			7	39	0	0	0	1	0	7	39					T	117619327	C	T	117619327	2	4	327	1	0	0	0	0	0	0	0	1	16716	726	26	3		3	TTF2	1	117619327	Silent	SNP	C	TCGA-KK-A7B0-01A-11D-A32B-08	31278332	117619327	131631294	2	16705											
WDR3	10885	broad.mit.edu	37	chr1	118486064	118486064	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cacggagagttaaaggctgtCttcctgctgcagaacaacct	11	9	10	11	1	1	2	0	0	1	2	2	3	2	2	2	2	4	4	2	2	4	2			TCGA-KK-A7B0-01A-11D-A32B-08	TCGA-KK-A7B0-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	379f2694-a7e1-4f6f-98c1-aabaa42f883c	b2e1507b-1fa5-4368-a706-2eee5e98d006	g.chr1:118486064C>T	ENST00000349139.5	+	11	1190	c.1143C>T	c.(1141-1143)gtC>gtT	p.V381V		NM_006784.2	NP_006775.1	Q9UNX4	WDR3_HUMAN	WD repeat domain 3	381						nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(9)|liver(2)|lung(22)|prostate(2)|upper_aerodigestive_tract(1)	49	Esophageal squamous(2;0.162)	all_cancers(81;2.72e-05)|Acute lymphoblastic leukemia(138;1e-08)|all_epithelial(167;4.4e-07)|all_lung(203;1.7e-06)|Lung NSC(69;1.98e-05)|Prostate(1639;0.00955)|Breast(1374;0.244)		OV - Ovarian serous cystadenocarcinoma(397;1.39e-08)|Epithelial(280;1.82e-07)|all cancers(265;2.04e-05)|Lung(183;0.0525)|BRCA - Breast invasive adenocarcinoma(282;0.0695)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.185)		TAAAGGCTGTCTTCCTGCTGC	0.438																																						ENST00000349139.4																			0				breast(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(9)|liver(2)|lung(22)|prostate(2)|upper_aerodigestive_tract(1)	49						c.(1141-1143)gtC>gtT		WD repeat domain 3							114	94	101					1																	118486064		2203	4300	6503	SO:0001819	synonymous_variant	10885					nuclear membrane|nucleolus		g.chr1:118486064C>T	AF083217	CCDS898.1	1p12	2013-01-09			ENSG00000065183	ENSG00000065183		"WD repeat domain containing"	12755	protein-coding gene	gene with protein product		604737				10395803	Standard	NM_006784		Approved	FLJ12796, UTP12, DIP2	uc010oxe.1	Q9UNX4	OTTHUMG00000012197	ENST00000349139.5:c.1143C>T	1.37:g.118486064C>T							p.V381V	NM_006784.2	NP_006775.1	Q9UNX4	WDR3_HUMAN		OV - Ovarian serous cystadenocarcinoma(397;1.39e-08)|Epithelial(280;1.82e-07)|all cancers(265;2.04e-05)|Lung(183;0.0525)|BRCA - Breast invasive adenocarcinoma(282;0.0695)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.185)	11	1190	+	Esophageal squamous(2;0.162)	all_cancers(81;2.72e-05)|Acute lymphoblastic leukemia(138;1e-08)|all_epithelial(167;4.4e-07)|all_lung(203;1.7e-06)|Lung NSC(69;1.98e-05)|Prostate(1639;0.00955)|Breast(1374;0.244)	381						Silent	SNP	ENST00000349139.5	37	c.1143C>T	CCDS898.1																																																																																				0.438	WDR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033720.2	NM_006784		5	34	0	0	0	1	0	5	34					T	118486064	C	T	118486064	2	4	327	1	0	0	0	0	0	0	0	1	17282	900	32	3		3	WDR3	1	118486064	Silent	SNP	C	TCGA-KK-A7B0-01A-11D-A32B-08	866737	118486064	130764557	3	16706											
CD5L	922	broad.mit.edu	37	chr1	157805811	157805811	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ggcagctccacagcccagctCccggcacaacacagccacgt	10	3	9	19	2	0	0	0	0	0	0	2	0	2	0	4	2	5	4	4	2	1	0			TCGA-KK-A7B0-01A-11D-A32B-08	TCGA-KK-A7B0-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	379f2694-a7e1-4f6f-98c1-aabaa42f883c	b2e1507b-1fa5-4368-a706-2eee5e98d006	g.chr1:157805811C>A	ENST00000368174.4	-	3	286	c.190G>T	c.(190-192)Gag>Tag	p.E64*	CD5L_ENST00000484609.1_5'UTR	NM_005894.2	NP_005885.1	O43866	CD5L_HUMAN	CD5 molecule-like	64	SRCR 1. {ECO:0000255|PROSITE- ProRule:PRU00196}.				apoptotic process (GO:0006915)|cellular defense response (GO:0006968)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	scavenger receptor activity (GO:0005044)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	52	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			CAGCCCAGCTCCCGGCACAAC	0.577																																						ENST00000368174.4																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	52						c.(190-192)Gag>Tag		CD5 molecule-like							134	137	136					1																	157805811		2203	4300	6503	SO:0001587	stop_gained	922				apoptosis|cellular defense response	extracellular space|membrane	scavenger receptor activity	g.chr1:157805811C>A	U82812	CCDS1171.1	1q21-q23	2008-02-05	2006-03-28		ENSG00000073754	ENSG00000073754			1690	protein-coding gene	gene with protein product		602592	"apoptosis inhibitor 6", "CD5 antigen-like (scavenger receptor cysteine rich family)"	API6		9045627	Standard	NM_005894		Approved	Spalpha	uc001frk.4	O43866	OTTHUMG00000022440	ENST00000368174.4:c.190G>T	1.37:g.157805811C>A	ENSP00000357156:p.Glu64*					CD5L_ENST00000484609.1_5'UTR	p.E64*	NM_005894.2	NP_005885.1	O43866	CD5L_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.24)		3	286	-	all_hematologic(112;0.0378)		64			SRCR 1.		A8K7M5|Q6UX63	Nonsense_Mutation	SNP	ENST00000368174.4	37	c.190G>T	CCDS1171.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.031480	0.75504	.	.	ENSG00000073754	ENST00000368174	.	.	.	4.85	2.87	0.33458	.	0.137374	0.33075	N	0.005317	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	.	12.5231	0.56072	0.0:0.4968:0.5032:0.0	.	.	.	.	X	64	.	ENSP00000357156:E64X	E	-	1	0	CD5L	156072435	0.938000	0.31826	0.998000	0.56505	0.786000	0.44442	1.572000	0.36461	0.565000	0.29255	0.563000	0.77884	GAG		0.577	CD5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058346.1	NM_005894		23	161	1	0	1.64293e-13	1	2.05367e-13	23	161					A	157805811	C	A	157805811	4	1	327	1	0	0	0	0	0	1	0	0	3027	864	30	5	869	5	CD5L	1	157805811	Nonsense_Mutation	SNP	C	TCGA-KK-A7B0-01A-11D-A32B-08	39319747	157805811	91444810	4	16707											
GALNT14	79623	broad.mit.edu	37	chr2	31165137	31165137	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	taatcaaaccaagctttgtcGatcacgaagagccctccagc	13	8	7	13	2	2	1	2	0	0	1	4	3	3	1	3	0	4	1	3	0	4	2			TCGA-KK-A7B0-01A-11D-A32B-08	TCGA-KK-A7B0-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	379f2694-a7e1-4f6f-98c1-aabaa42f883c	b2e1507b-1fa5-4368-a706-2eee5e98d006	g.chr2:31165137G>A	ENST00000349752.5	-	9	1500	c.861C>T	c.(859-861)atC>atT	p.I287I	GALNT14_ENST00000486564.1_5'UTR|GALNT14_ENST00000356174.3_Silent_p.I254I|GALNT14_ENST00000324589.5_Silent_p.I292I|GALNT14_ENST00000406653.1_Silent_p.I267I|GALNT14_ENST00000420311.2_Silent_p.I252I	NM_024572.3	NP_078848.2	Q96FL9	GLT14_HUMAN	polypeptide N-acetylgalactosaminyltransferase 14	287	Catalytic subdomain B.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)	p.I287I(1)		cervix(1)|endometrium(3)|large_intestine(10)|liver(1)|lung(21)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)	43	Acute lymphoblastic leukemia(172;0.155)					AAGCTTTGTCGATCACGAAGA	0.488																																						ENST00000349752.5																			1	Substitution - coding silent(1)	p.I287I(1)	skin(1)	cervix(1)|endometrium(3)|large_intestine(10)|liver(1)|lung(21)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)	43						c.(859-861)atC>atT		UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 14 (GalNAc-T14)							137	124	128					2																	31165137		2203	4300	6503	SO:0001819	synonymous_variant	79623					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr2:31165137G>A	AB078144	CCDS1773.2, CCDS58705.1, CCDS58706.1	2p23.2	2014-03-13	2014-03-13		ENSG00000158089	ENSG00000158089	2.4.1.41	"Glycosyltransferase family 2 domain containing"	22946	protein-coding gene	gene with protein product	"polypeptide GalNAc transferase 14"	608225	"UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 14 (GalNAc-T14)"			12507512	Standard	NM_024572		Approved	GalNac-T10, FLJ12691, GalNac-T14	uc002rns.3	Q96FL9	OTTHUMG00000074077	ENST00000349752.5:c.861C>T	2.37:g.31165137G>A						GALNT14_ENST00000486564.1_5'UTR|GALNT14_ENST00000324589.5_Silent_p.I292I|GALNT14_ENST00000356174.3_Silent_p.I254I|GALNT14_ENST00000420311.2_Silent_p.I252I|GALNT14_ENST00000406653.1_Silent_p.I267I	p.I287I	NM_024572.3	NP_078848.2	Q96FL9	GLT14_HUMAN			9	1500	-	Acute lymphoblastic leukemia(172;0.155)		287			Catalytic subdomain B.		B3KV89|Q4ZG75|Q53SU1|Q53TJ0|Q8IVI4|Q9BRH1|Q9H827|Q9H9J8	Silent	SNP	ENST00000349752.5	37	c.861C>T	CCDS1773.2																																																																																				0.488	GALNT14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157264.1	NM_024572		4	66	0	0	0	1	0	4	66					A	31165137	G	A	31165137	2	1	327	1	0	0	0	0	0	0	0	1	6212	1048	37	2		2	GALNT14	2	31165137	Silent	SNP	G	TCGA-KK-A7B0-01A-11D-A32B-08		31165137	212034236	5	16708											
SRBD1	55133	broad.mit.edu	37	chr2	45780823	45780823	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggaatcattcagtgaattatAtaagatcttcattaactctg	14	15	6	6	0	5	2	3	1	2	1	5	3	5	3	0	1	1	0	0	1	6	6			TCGA-KK-A7B0-01A-11D-A32B-08	TCGA-KK-A7B0-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	379f2694-a7e1-4f6f-98c1-aabaa42f883c	b2e1507b-1fa5-4368-a706-2eee5e98d006	g.chr2:45780823A>G	ENST00000263736.4	-	11	1518	c.1456T>C	c.(1456-1458)Tat>Cat	p.Y486H	SRBD1_ENST00000535761.1_Missense_Mutation_p.Y5H	NM_018079.4	NP_060549.4	Q8N5C6	SRBD1_HUMAN	S1 RNA binding domain 1	486					nucleobase-containing compound metabolic process (GO:0006139)		hydrolase activity, acting on ester bonds (GO:0016788)|RNA binding (GO:0003723)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(13)|large_intestine(8)|lung(15)|skin(2)|stomach(1)|urinary_tract(1)	49		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	LUSC - Lung squamous cell carcinoma(58;0.0917)|Lung(47;0.154)			AGTGAATTATATAAGATCTTC	0.348																																						ENST00000263736.4																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(13)|large_intestine(8)|lung(15)|skin(2)|stomach(1)|urinary_tract(1)	49						c.(1456-1458)Tat>Cat		S1 RNA binding domain 1							75	82	80					2																	45780823		2203	4300	6503	SO:0001583	missense	55133				nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		hydrolase activity, acting on ester bonds|RNA binding	g.chr2:45780823A>G	AK056536	CCDS1823.1	2p21	2008-02-05			ENSG00000068784	ENSG00000068784			25521	protein-coding gene	gene with protein product						12477932	Standard	NM_018079		Approved	FLJ10379	uc002rus.3	Q8N5C6	OTTHUMG00000128814	ENST00000263736.4:c.1456T>C	2.37:g.45780823A>G	ENSP00000263736:p.Tyr486His					SRBD1_ENST00000535761.1_Missense_Mutation_p.Y5H	p.Y486H	NM_018079.4	NP_060549.4	Q8N5C6	SRBD1_HUMAN	LUSC - Lung squamous cell carcinoma(58;0.0917)|Lung(47;0.154)		11	1518	-		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	486					Q53T56|Q96TA4|Q9NW11	Missense_Mutation	SNP	ENST00000263736.4	37	c.1456T>C	CCDS1823.1	.	.	.	.	.	.	.	.	.	.	A	3.377	-0.127207	0.06795	.	.	ENSG00000068784	ENST00000263736;ENST00000535761	T;T	0.41400	1.01;1.0	5.56	-3.79	0.04320	Tex-like domain (1);	1.111300	0.06490	N	0.734371	T	0.12902	0.0313	N	0.01352	-0.895	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.18967	-1.0320	10	0.14656	T	0.56	.	5.3074	0.15811	0.3448:0.0:0.4574:0.1978	.	486	Q8N5C6	SRBD1_HUMAN	H	486;5	ENSP00000263736:Y486H;ENSP00000441272:Y5H	ENSP00000263736:Y486H	Y	-	1	0	SRBD1	45634327	0.142000	0.22610	0.001000	0.08648	0.087000	0.18053	0.716000	0.25836	-1.342000	0.02222	-1.208000	0.01637	TAT		0.348	SRBD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250747.3	NM_018079		5	55	0	0	0	1	0	5	55					G	45780823	A	G	45780823	3	3	327	1	0	0	0	0	1	0	0	0	15132	449	16	4	1575	4	SRBD1	2	45780823	Missense_Mutation	SNP	A	TCGA-KK-A7B0-01A-11D-A32B-08	14615686	45780823	197418550	6	16709											
LRP1B	53353	broad.mit.edu	37	chr2	141665495	141665495	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggacaatcctttttcccattGcagagtttctctggctgcag	7	14	9	11	0	1	1	0	0	1	1	4	2	3	2	2	2	2	4	2	2	1	4			TCGA-KK-A7B0-01A-11D-A32B-08	TCGA-KK-A7B0-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	379f2694-a7e1-4f6f-98c1-aabaa42f883c	b2e1507b-1fa5-4368-a706-2eee5e98d006	g.chr2:141665495G>A	ENST00000389484.3	-	22	4442	c.3471C>T	c.(3469-3471)tgC>tgT	p.C1157C		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	1157	LDL-receptor class A 10. {ECO:0000255|PROSITE-ProRule:PRU00124}.				protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)	p.C1157*(1)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TTTTCCCATTGCAGAGTTTCT	0.438										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	ENST00000389484.3																			1	Substitution - Nonsense(1)	p.C1157*(1)	lung(1)	NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606						c.(3469-3471)tgC>tgT		low density lipoprotein receptor-related protein 1B							181	177	179					2																	141665495		2203	4300	6503	SO:0001819	synonymous_variant	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141665495G>A	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"Low density lipoprotein receptors"	6693	protein-coding gene	gene with protein product	"LRP-deleted in tumors"	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.3471C>T	2.37:g.141665495G>A		TSP Lung(27;0.18)					p.C1157C	NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)	22	4442	-		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)	1157			LDL-receptor class A 10.		Q8WY29|Q8WY30|Q8WY31	Silent	SNP	ENST00000389484.3	37	c.3471C>T	CCDS2182.1																																																																																				0.438	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		13	105	0	0	0	1	0	13	105					A	141665495	G	A	141665495	2	1	327	1	0	0	0	0	0	0	0	1	8955	1311	46	3		3	LRP1B	2	141665495	Silent	SNP	G	TCGA-KK-A7B0-01A-11D-A32B-08	95884672	141665495	101533878	7	16710											
ZNF804A	91752	broad.mit.edu	37	chr2	185802525	185802525	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atttttgaggccaccaagtaCttcagttgctccctgcaagc	9	12	8	12	0	1	1	1	1	0	0	2	1	2	1	3	1	4	4	3	1	3	5			TCGA-KK-A7B0-01A-11D-A32B-08	TCGA-KK-A7B0-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	379f2694-a7e1-4f6f-98c1-aabaa42f883c	b2e1507b-1fa5-4368-a706-2eee5e98d006	g.chr2:185802525C>A	ENST00000302277.6	+	4	2996	c.2402C>A	c.(2401-2403)aCt>aAt	p.T801N		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	801							metal ion binding (GO:0046872)			NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						CCACCAAGTACTTCAGTTGCT	0.373																																						ENST00000302277.6																			0				NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						c.(2401-2403)aCt>aAt		zinc finger protein 804A							47	52	50					2																	185802525		2197	4297	6494	SO:0001583	missense	91752					intracellular	zinc ion binding	g.chr2:185802525C>A	AF052145	CCDS2291.1	2q32.1	2012-10-05	2006-10-27	2006-10-27	ENSG00000170396	ENSG00000170396			21711	protein-coding gene	gene with protein product		612282		C2orf10		12970790	Standard	NM_194250		Approved		uc002uph.3	Q7Z570	OTTHUMG00000132625	ENST00000302277.6:c.2402C>A	2.37:g.185802525C>A	ENSP00000303252:p.Thr801Asn						p.T801N	NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN			4	2996	+			801					A7E253|Q6ZN26	Missense_Mutation	SNP	ENST00000302277.6	37	c.2402C>A	CCDS2291.1	.	.	.	.	.	.	.	.	.	.	C	2.834	-0.242005	0.05906	.	.	ENSG00000170396	ENST00000302277	T	0.05786	3.39	5.67	2.78	0.32641	.	1.403200	0.04583	N	0.395301	T	0.06005	0.0156	N	0.19112	0.55	0.09310	N	1	B	0.23735	0.09	B	0.24006	0.05	T	0.41342	-0.9514	10	0.33940	T	0.23	-1.4419	8.9651	0.35872	0.0:0.6448:0.2798:0.0754	.	801	Q7Z570	Z804A_HUMAN	N	801	ENSP00000303252:T801N	ENSP00000303252:T801N	T	+	2	0	ZNF804A	185510770	0.000000	0.05858	0.136000	0.22124	0.096000	0.18686	0.040000	0.13905	0.761000	0.33130	-0.753000	0.03488	ACT		0.373	ZNF804A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255871.1	NM_194250		7	44	1	0	0.00307968	1	0.00327625	7	44					A	185802525	C	A	185802525	3	1	327	1	0	0	0	0	1	0	0	0	18167	565	20	5	2416	5	ZNF804A	2	185802525	Missense_Mutation	SNP	C	TCGA-KK-A7B0-01A-11D-A32B-08	44137030	185802525	57396848	8	16711											
FN1	2335	broad.mit.edu	37	chr2	216262472	216262472	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggacttggatggtgtagaCgtattctactcctggagtca	9	12	12	8	1	2	1	1	0	1	1	3	4	3	4	1	4	1	2	1	4	3	5			TCGA-KK-A7B0-01A-11D-A32B-08	TCGA-KK-A7B0-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	379f2694-a7e1-4f6f-98c1-aabaa42f883c	b2e1507b-1fa5-4368-a706-2eee5e98d006	g.chr2:216262472C>A	ENST00000359671.1	-	22	3713	c.3448G>T	c.(3448-3450)Gtc>Ttc	p.V1150F	FN1_ENST00000336916.4_Missense_Mutation_p.V1150F|FN1_ENST00000432072.2_Missense_Mutation_p.V1150F|FN1_ENST00000346544.3_Missense_Mutation_p.V1150F|FN1_ENST00000421182.1_Missense_Mutation_p.V1150F|FN1_ENST00000345488.5_Missense_Mutation_p.V1150F|FN1_ENST00000357867.4_Missense_Mutation_p.V1150F|FN1_ENST00000446046.1_Missense_Mutation_p.V1150F|FN1_ENST00000443816.1_Missense_Mutation_p.V1150F|FN1_ENST00000356005.4_Missense_Mutation_p.V1150F|FN1_ENST00000354785.4_Missense_Mutation_p.V1150F|FN1_ENST00000323926.6_Missense_Mutation_p.V1150F|FN1_ENST00000357009.2_Missense_Mutation_p.V1150F			P02751	FINC_HUMAN	fibronectin 1	1150	Fibronectin type-III 6. {ECO:0000255|PROSITE-ProRule:PRU00316, ECO:0000255|PROSITE-ProRule:PRU00478, ECO:0000255|PROSITE-ProRule:PRU00479}.				acute-phase response (GO:0006953)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|calcium-independent cell-matrix adhesion (GO:0007161)|cell adhesion (GO:0007155)|cell-substrate junction assembly (GO:0007044)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|integrin activation (GO:0033622)|leukocyte migration (GO:0050900)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of axon extension (GO:0045773)|regulation of cell shape (GO:0008360)|response to wounding (GO:0009611)|substrate adhesion-dependent cell spreading (GO:0034446)	apical plasma membrane (GO:0016324)|basal lamina (GO:0005605)|blood microparticle (GO:0072562)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|platelet alpha granule lumen (GO:0031093)	collagen binding (GO:0005518)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|peptidase activator activity (GO:0016504)|protease binding (GO:0002020)		FN1/ALK(2)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Ocriplasmin(DB08888)	ATGGTGTAGACGTATTCTACT	0.483																																						ENST00000354785.4																		FN1/ALK(2)	0				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109						c.(3448-3450)Gtc>Ttc		fibronectin 1	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						188	164	172					2																	216262472		2203	4300	6503	SO:0001583	missense	2335				acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading	ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix	collagen binding|extracellular matrix structural constituent|heparin binding	g.chr2:216262472C>A		CCDS2399.1, CCDS2400.1, CCDS42813.1, CCDS42814.1, CCDS46510.1, CCDS46512.1	2q34	2014-01-30			ENSG00000115414	ENSG00000115414		"Fibronectin type III domain containing", "Endogenous ligands"	3778	protein-coding gene	gene with protein product	"migration-stimulating factor", "cold-insoluble globulin"	135600				2992939, 3003095	Standard	NM_054034		Approved	MSF, CIG, LETS, GFND2, FINC	uc002vfa.3	P02751	OTTHUMG00000133054	ENST00000359671.1:c.3448G>T	2.37:g.216262472C>A	ENSP00000352696:p.Val1150Phe					FN1_ENST00000356005.4_Missense_Mutation_p.V1150F|FN1_ENST00000432072.2_Missense_Mutation_p.V1150F|FN1_ENST00000336916.4_Missense_Mutation_p.V1150F|FN1_ENST00000421182.1_Missense_Mutation_p.V1150F|FN1_ENST00000346544.3_Missense_Mutation_p.V1150F|FN1_ENST00000443816.1_Missense_Mutation_p.V1150F|FN1_ENST00000359671.1_Missense_Mutation_p.V1150F|FN1_ENST00000357009.2_Missense_Mutation_p.V1150F|FN1_ENST00000345488.5_Missense_Mutation_p.V1150F|FN1_ENST00000323926.6_Missense_Mutation_p.V1150F|FN1_ENST00000446046.1_Missense_Mutation_p.V1150F|FN1_ENST00000357867.4_Missense_Mutation_p.V1150F	p.V1150F			P02751	FINC_HUMAN		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	22	3817	-		Renal(323;0.127)	1150			Fibronectin type-III 6.		B7ZLF0|E9PE77|E9PG29|O95609|O95610|Q14312|Q14325|Q14326|Q17RV7|Q564H7|Q585T2|Q59EH1|Q60FE4|Q68DP8|Q68DP9|Q68DT4|Q6LDP6|Q6MZS0|Q6MZU5|Q6N025|Q6N0A6|Q7Z391|Q86T27|Q8IVI8|Q96KP7|Q96KP8|Q96KP9|Q9H1B8|Q9HAP3|Q9UMK2	Missense_Mutation	SNP	ENST00000359671.1	37	c.3448G>T		.	.	.	.	.	.	.	.	.	.	C	12.10	1.835391	0.32421	.	.	ENSG00000115414	ENST00000421182;ENST00000323926;ENST00000336916;ENST00000357867;ENST00000354785;ENST00000265313;ENST00000359671;ENST00000346544;ENST00000345488;ENST00000357009;ENST00000446046;ENST00000443816;ENST00000432072;ENST00000356005	T;T;T;T;T;T;T;T;T;T;T;T;T	0.58210	0.35;0.35;0.35;0.35;0.35;0.35;0.35;0.35;0.35;0.35;0.35;0.35;0.35	5.36	-3.03	0.05429	.	1.373970	0.04537	N	0.387415	T	0.59622	0.2207	N	0.22421	0.69	0.09310	N	1	P;P;D;P;P;P;P;P;P;P	0.62365	0.933;0.537;0.991;0.845;0.943;0.537;0.945;0.745;0.601;0.723	P;B;D;P;P;P;P;P;P;B	0.68353	0.598;0.293;0.957;0.615;0.852;0.496;0.797;0.615;0.488;0.385	T	0.61357	-0.7079	10	0.62326	D	0.03	.	14.6738	0.68964	0.0:0.2554:0.0:0.7446	.	1150;1150;1150;1150;1150;1150;1150;1150;1150;1150	P02751-13;P02751-7;P02751-10;P02751-8;E9PE77;P02751-3;E7ERA1;P02751-9;P02751-14;P02751-15	.;.;.;.;.;.;.;.;.;.	F	1150	ENSP00000394423:V1150F;ENSP00000323534:V1150F;ENSP00000338200:V1150F;ENSP00000350534:V1150F;ENSP00000346839:V1150F;ENSP00000352696:V1150F;ENSP00000265312:V1150F;ENSP00000273049:V1150F;ENSP00000349509:V1150F;ENSP00000410422:V1150F;ENSP00000415018:V1150F;ENSP00000399538:V1150F;ENSP00000348285:V1150F	ENSP00000265313:V1150F	V	-	1	0	FN1	215970717	0.041000	0.20044	0.000000	0.03702	0.230000	0.25150	-0.080000	0.11339	-0.937000	0.03719	-0.229000	0.12294	GTC		0.483	FN1-204	KNOWN	basic	protein_coding	protein_coding		NM_212476		9	72	1	0	7.48243e-07	1	8.7005e-07	9	72					A	216262472	C	A	216262472	3	1	327	1	0	0	0	0	1	0	0	0	5962	536	19	5	4085	5	FN1	2	216262472	Missense_Mutation	SNP	C	TCGA-KK-A7B0-01A-11D-A32B-08	30459947	216262472	26936901	9	16712											
SI	6476	broad.mit.edu	37	chr3	164748597	164748597	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cattttctgagaaaatttgaTtccattgaacactaaagttt	14	16	5	6	0	1	3	0	3	1	1	2	4	2	3	1	0	1	1	1	0	5	7			TCGA-KK-A7B0-01A-11D-A32B-08	TCGA-KK-A7B0-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	379f2694-a7e1-4f6f-98c1-aabaa42f883c	b2e1507b-1fa5-4368-a706-2eee5e98d006	g.chr3:164748597T>C	ENST00000264382.3	-	25	2857	c.2795A>G	c.(2794-2796)aAt>aGt	p.N932S		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	932	Isomaltase.|P-type 2. {ECO:0000255|PROSITE- ProRule:PRU00779}.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	brush border (GO:0005903)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|oligo-1,6-glucosidase activity (GO:0004574)|sucrose alpha-glucosidase activity (GO:0004575)			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)|Scopolamine(DB00747)	GAAAATTTGATTCCATTGAAC	0.313										HNSCC(35;0.089)																												ENST00000264382.3																			0				NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218						c.(2794-2796)aAt>aGt		sucrase-isomaltase (alpha-glucosidase)	Acarbose(DB00284)						59	65	63					3																	164748597		2202	4295	6497	SO:0001583	missense	6476				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity	g.chr3:164748597T>C	X63597	CCDS3196.1	3q25.2-q26.2	2004-04-06	2004-04-06		ENSG00000090402	ENSG00000090402	3.2.1.10		10856	protein-coding gene	gene with protein product	"Oligosaccharide alpha-1,6-glucosidase"	609845	"sucrase-isomaltase"			2962903, 1353958	Standard	NM_001041		Approved		uc003fei.3	P14410	OTTHUMG00000158065	ENST00000264382.3:c.2795A>G	3.37:g.164748597T>C	ENSP00000264382:p.Asn932Ser	HNSCC(35;0.089)					p.N932S	NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN			25	2857	-		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)	932			Isomaltase.|P-type 2.		A2RUC3|Q1JQ80|Q1RMC2	Missense_Mutation	SNP	ENST00000264382.3	37	c.2795A>G	CCDS3196.1	.	.	.	.	.	.	.	.	.	.	T	0.005	-2.168494	0.00315	.	.	ENSG00000090402	ENST00000264382	T	0.13089	2.62	4.81	-0.423	0.12325	P-type trefoil (2);	0.714488	0.14146	N	0.338349	T	0.04543	0.0124	N	0.05124	-0.11	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.44605	-0.9317	10	0.09084	T	0.74	.	5.3493	0.16026	0.0:0.1902:0.457:0.3528	.	932	P14410	SUIS_HUMAN	S	932	ENSP00000264382:N932S	ENSP00000264382:N932S	N	-	2	0	SI	166231291	0.148000	0.22702	0.253000	0.24343	0.213000	0.24496	-0.071000	0.11505	0.334000	0.23590	-0.371000	0.07208	AAT		0.313	SI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350116.1	NM_001041		11	36	0	0	0	1	0	11	36					C	164748597	T	C	164748597	3	2	327	1	0	0	0	0	1	0	0	0	14297	1493	52	4	2784	4	SI	3	164748597	Missense_Mutation	SNP	T	TCGA-KK-A7B0-01A-11D-A32B-08		164748597	33273833	10	16713											
ENOPH1	58478	broad.mit.edu	37	chr4	83378116	83378116	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttggacacaaagtagagagtGaaagttaccgaaagattgca	17	8	11	5	1	0	3	0	1	0	2	0	6	0	4	1	1	2	3	1	1	5	4			TCGA-KK-A7B0-01A-11D-A32B-08	TCGA-KK-A7B0-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	379f2694-a7e1-4f6f-98c1-aabaa42f883c	b2e1507b-1fa5-4368-a706-2eee5e98d006	g.chr4:83378116G>T	ENST00000273920.3	+	5	839	c.571G>T	c.(571-573)Gaa>Taa	p.E191*	ENOPH1_ENST00000509635.1_Nonsense_Mutation_p.E103*	NM_021204.3	NP_067027.1			enolase-phosphatase 1											central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(3)|skin(1)	13						AGTAGAGAGTGAAAGTTACCG	0.403																																						ENST00000273920.3																			0				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(3)|skin(1)	13						c.(571-573)Gaa>Taa		enolase-phosphatase 1							173	163	166					4																	83378116		2203	4300	6503	SO:0001587	stop_gained	58478				L-methionine salvage from methylthioadenosine	cytoplasm|nucleus	2,3-diketo-5-methylthiopentyl-1-phosphate enolase activity|2-hydroxy-3-keto-5-methylthiopentenyl-1-phosphate phosphatase activity|acireductone synthase activity|magnesium ion binding|phosphoglycolate phosphatase activity	g.chr4:83378116G>T		CCDS3594.1, CCDS75154.1	4q21.3	2013-05-29			ENSG00000145293	ENSG00000145293	3.1.3.77		24599	protein-coding gene	gene with protein product	"Enolase-phosphatase E1", "acireductone synthase"					15843022	Standard	XM_005263168		Approved	MASA, E1, mtnC	uc003hmv.3	Q9UHY7	OTTHUMG00000130295	ENST00000273920.3:c.571G>T	4.37:g.83378116G>T	ENSP00000273920:p.Glu191*					ENOPH1_ENST00000509635.1_Nonsense_Mutation_p.E103*	p.E191*	NM_021204.3	NP_067027.1	Q9UHY7	ENOPH_HUMAN			5	839	+			191						Nonsense_Mutation	SNP	ENST00000273920.3	37	c.571G>T	CCDS3594.1	.	.	.	.	.	.	.	.	.	.	g	39	7.332433	0.98217	.	.	ENSG00000145293	ENST00000273920;ENST00000456931;ENST00000509635	.	.	.	5.37	5.37	0.77165	.	0.099847	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.08179	T	0.78	-24.1263	12.7929	0.57545	0.0754:0.0:0.9246:0.0	.	.	.	.	X	191;191;103	.	ENSP00000273920:E191X	E	+	1	0	ENOPH1	83597140	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	5.127000	0.64727	2.672000	0.90937	0.585000	0.79938	GAA		0.403	ENOPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252638.2	NM_021204		6	64	1	0	5.4927e-09	1	6.69842e-09	6	64					T	83378116	G	T	83378116	4	4	327	1	0	0	0	0	0	1	0	0	5124	1291	45	5	589	5	ENOPH1	4	83378116	Nonsense_Mutation	SNP	G	TCGA-KK-A7B0-01A-11D-A32B-08		83378116	107776160	11	16714											
CHD1	1105	broad.mit.edu	37	chr5	98215342	98215342	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttcttctaatcgtcttctttGatcttctggaataatttcct	7	21	4	9	1	6	1	0	1	6	0	8	2	7	2	1	1	0	0	1	1	3	8			TCGA-KK-A7B0-01A-11D-A32B-08	TCGA-KK-A7B0-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	379f2694-a7e1-4f6f-98c1-aabaa42f883c	b2e1507b-1fa5-4368-a706-2eee5e98d006	g.chr5:98215342G>A	ENST00000284049.3	-	22	3300	c.3151C>T	c.(3151-3153)Caa>Taa	p.Q1051*		NM_001270.2	NP_001261.2	O14646	CHD1_HUMAN	chromodomain helicase DNA binding protein 1	1051					chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|methylated histone binding (GO:0035064)			NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	49		all_cancers(142;5.36e-08)|all_epithelial(76;6.97e-11)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|all_lung(232;0.00119)|Ovarian(225;0.024)|Colorectal(57;0.117)		COAD - Colon adenocarcinoma(37;0.0717)	Epirubicin(DB00445)	CGTCTTCTTTGATCTTCTGGA	0.338																																						ENST00000284049.3																			0				NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	49						c.(3151-3153)Caa>Taa		chromodomain helicase DNA binding protein 1	Epirubicin(DB00445)						109	102	104					5																	98215342		2203	4296	6499	SO:0001587	stop_gained	1105				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|methylated histone residue binding	g.chr5:98215342G>A	AF006513	CCDS34204.1	5q15-q21	2008-07-18			ENSG00000153922	ENSG00000153922			1915	protein-coding gene	gene with protein product		602118				8460153, 9326634	Standard	XM_005271866		Approved		uc003knf.3	O14646	OTTHUMG00000162744	ENST00000284049.3:c.3151C>T	5.37:g.98215342G>A	ENSP00000284049:p.Gln1051*						p.Q1051*	NM_001270.2	NP_001261.2	O14646	CHD1_HUMAN		COAD - Colon adenocarcinoma(37;0.0717)	22	3300	-		all_cancers(142;5.36e-08)|all_epithelial(76;6.97e-11)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|all_lung(232;0.00119)|Ovarian(225;0.024)|Colorectal(57;0.117)	1051					Q17RZ3	Nonsense_Mutation	SNP	ENST00000284049.3	37	c.3151C>T	CCDS34204.1	.	.	.	.	.	.	.	.	.	.	G	43	10.041713	0.99324	.	.	ENSG00000153922	ENST00000284049	.	.	.	5.39	5.39	0.77823	.	0.000000	0.32987	U	0.005417	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.30854	T	0.27	.	19.5293	0.95222	0.0:0.0:1.0:0.0	.	.	.	.	X	1051	.	ENSP00000284049:Q1051X	Q	-	1	0	CHD1	98243242	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.434000	0.97515	2.705000	0.92388	0.655000	0.94253	CAA		0.338	CHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370295.1	NM_001270		8	20	0	0	0	1	0	8	20					A	98215342	G	A	98215342	4	1	327	1	0	0	0	0	0	1	0	0	3323	1299	45	3	2037	3	CHD1	5	98215342	Nonsense_Mutation	SNP	G	TCGA-KK-A7B0-01A-11D-A32B-08		98215342	82699918	12	16715											
SLCO4C1	353189	broad.mit.edu	37	chr5	101593758	101593758	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttctgaagaagttgatagaaCtaaacacataaagacagcat	19	9	7	6	0	1	5	0	2	1	3	1	5	1	5	0	0	3	2	0	0	8	5			TCGA-KK-A7B0-01A-11D-A32B-08	TCGA-KK-A7B0-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	379f2694-a7e1-4f6f-98c1-aabaa42f883c	b2e1507b-1fa5-4368-a706-2eee5e98d006	g.chr5:101593758C>A	ENST00000310954.6	-	7	1448	c.1162G>T	c.(1162-1164)Gtt>Ttt	p.V388F		NM_180991.4	NP_851322.3			solute carrier organic anion transporter family, member 4C1											breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	50		all_cancers(142;1.86e-08)|all_epithelial(76;5.24e-12)|Prostate(80;0.00124)|Colorectal(57;0.00332)|Ovarian(225;0.024)|Lung NSC(167;0.0402)|all_lung(232;0.0486)		Epithelial(69;4.07e-14)|COAD - Colon adenocarcinoma(37;0.00986)		GTTGATAGAACTAAACACATA	0.313																																						ENST00000310954.6																			0				breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	50						c.(1162-1164)Gtt>Ttt		solute carrier organic anion transporter family, member 4C1							49	53	51					5																	101593758		2203	4296	6499	SO:0001583	missense	353189				cell differentiation|multicellular organismal development|sodium-independent organic anion transport|spermatogenesis	basolateral plasma membrane|integral to membrane	sodium-independent organic anion transmembrane transporter activity	g.chr5:101593758C>A	AY273896	CCDS34205.1	5q21	2013-05-22	2003-11-25		ENSG00000173930	ENSG00000173930		"Solute carriers"	23612	protein-coding gene	gene with protein product		609013					Standard	NM_180991		Approved	SLC21A20, OATP4C1, OATPX, OATP-H	uc003knm.3	Q6ZQN7	OTTHUMG00000162757	ENST00000310954.6:c.1162G>T	5.37:g.101593758C>A	ENSP00000309741:p.Val388Phe						p.V388F	NM_180991.4	NP_851322.3	Q6ZQN7	SO4C1_HUMAN		Epithelial(69;4.07e-14)|COAD - Colon adenocarcinoma(37;0.00986)	7	1448	-		all_cancers(142;1.86e-08)|all_epithelial(76;5.24e-12)|Prostate(80;0.00124)|Colorectal(57;0.00332)|Ovarian(225;0.024)|Lung NSC(167;0.0402)|all_lung(232;0.0486)	388						Missense_Mutation	SNP	ENST00000310954.6	37	c.1162G>T	CCDS34205.1	.	.	.	.	.	.	.	.	.	.	C	18.07	3.542265	0.65198	.	.	ENSG00000173930	ENST00000310954	T	0.44083	0.93	5.81	3.09	0.35607	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.483231	0.19646	N	0.109328	T	0.46833	0.1413	M	0.84773	2.715	0.31412	N	0.675421	B	0.33299	0.407	B	0.38985	0.287	T	0.50189	-0.8857	10	0.20519	T	0.43	.	8.0407	0.30519	0.0:0.6255:0.0:0.3745	.	388	Q6ZQN7	SO4C1_HUMAN	F	388	ENSP00000309741:V388F	ENSP00000309741:V388F	V	-	1	0	SLCO4C1	101621657	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	1.519000	0.35888	0.827000	0.34685	0.580000	0.79431	GTT		0.313	SLCO4C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370332.1	NM_180991		7	23	1	0	0.00198382	1	0.00215632	7	23					A	101593758	C	A	101593758	3	1	327	1	0	0	0	0	1	0	0	0	14730	565	20	5	1040	5	SLCO4C1	5	101593758	Missense_Mutation	SNP	C	TCGA-KK-A7B0-01A-11D-A32B-08	3378416	101593758	79321502	13	16716											
PCDHB5	26167	broad.mit.edu	37	chr5	140517015	140517015	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctggtggacggcttctccCagccctacctgccgctgccg	3	9	11	18	3	1	0	0	0	1	0	3	1	2	1	6	3	4	2	6	3	1	2			TCGA-KK-A7B0-01A-11D-A32B-08	TCGA-KK-A7B0-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	379f2694-a7e1-4f6f-98c1-aabaa42f883c	b2e1507b-1fa5-4368-a706-2eee5e98d006	g.chr5:140517015C>T	ENST00000231134.5	+	1	2216	c.1999C>T	c.(1999-2001)Cag>Tag	p.Q667*		NM_015669.2	NP_056484.1	Q9Y5E4	PCDB5_HUMAN	protocadherin beta 5	667	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	81			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CGGCTTCTCCCAGCCCTACCT	0.706																																						ENST00000231134.5																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	81						c.(1999-2001)Cag>Tag									43	48	47					5																	140517015		2159	4238	6397	SO:0001587	stop_gained	0				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding|protein binding	g.chr5:140517015C>T	AF152498	CCDS4247.1	5q31	2010-01-26			ENSG00000113209	ENSG00000113209		"Cadherins / Protocadherins : Clustered"	8690	other	protocadherin		606331				10380929	Standard	NM_015669		Approved	DKFZp586B0217, PCDH-BETA5	uc003liq.3	Q9Y5E4	OTTHUMG00000129616	ENST00000231134.5:c.1999C>T	5.37:g.140517015C>T	ENSP00000231134:p.Gln667*						p.Q667*	NM_015669.2	NP_056484.1	Q9Y5E4	PCDB5_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	2216	+			667			Cadherin 6.		Q549F4|Q9UFU9	Nonsense_Mutation	SNP	ENST00000231134.5	37	c.1999C>T	CCDS4247.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.384853	0.82792	.	.	ENSG00000113209	ENST00000231134	.	.	.	4.71	3.77	0.43336	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	9.6271	0.39757	0.1189:0.6233:0.2578:0.0	.	.	.	.	X	667	.	ENSP00000231134:Q667X	Q	+	1	0	PCDHB5	140497199	0.008000	0.16893	0.998000	0.56505	0.260000	0.26232	0.093000	0.15086	2.337000	0.79520	0.430000	0.28490	CAG		0.706	PCDHB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251811.1	NM_015669		22	96	0	0	0	1	0	22	96					T	140517015	C	T	140517015	4	4	327	1	0	0	0	0	0	1	0	0	11545	595	21	3	2001	3	PCDHB5	5	140517015	Nonsense_Mutation	SNP	C	TCGA-KK-A7B0-01A-11D-A32B-08	38923257	140517015	40398245	14	16717											
PCDHGA8	9708	broad.mit.edu	37	chr5	140773889	140773889	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagggggcgcccctgtcctcGtatatctccatcaactctga	7	10	9	15	2	3	1	1	1	2	0	6	1	4	1	4	2	1	1	4	2	3	2			TCGA-KK-A7B0-01A-11D-A32B-08	TCGA-KK-A7B0-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	379f2694-a7e1-4f6f-98c1-aabaa42f883c	b2e1507b-1fa5-4368-a706-2eee5e98d006	g.chr5:140773889G>A	ENST00000398604.2	+	1	1509	c.1509G>A	c.(1507-1509)tcG>tcA	p.S503S	PCDHGB3_ENST00000576222.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA7_ENST00000518325.1_Intron	NM_032088.1	NP_114477.1	Q9Y5G5	PCDG8_HUMAN	protocadherin gamma subfamily A, 8	503	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(6)|kidney(6)|large_intestine(6)|lung(30)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	51			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCCTGTCCTCGTATATCTCCA	0.567																																						ENST00000398604.2																			0				endometrium(6)|kidney(6)|large_intestine(6)|lung(30)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	51						c.(1507-1509)tcG>tcA									49	57	54					5																	140773889		2172	4286	6458	SO:0001819	synonymous_variant	0							g.chr5:140773889G>A	AF152515	CCDS47291.1, CCDS75338.1	5q31	2010-01-26			ENSG00000253767	ENSG00000253767		"Cadherins / Protocadherins : Clustered"	8706	other	protocadherin		606295				10380929	Standard	NM_014004		Approved	KIAA0327, PCDH-GAMMA-A8		Q9Y5G5	OTTHUMG00000164053	ENST00000398604.2:c.1509G>A	5.37:g.140773889G>A						PCDHGA6_ENST00000517434.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron	p.S503S	NM_032088.1	NP_114477.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1509	+								A7MCZ4|O15039	Silent	SNP	ENST00000398604.2	37	c.1509G>A	CCDS47291.1																																																																																				0.567	PCDHGA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376972.1	NM_032088		3	42	0	0	0	1	0	3	42					A	140773889	G	A	140773889	2	1	327	1	0	0	0	0	0	0	0	1	11560	1132	40	1		1	PCDHGA8	5	140773889	Silent	SNP	G	TCGA-KK-A7B0-01A-11D-A32B-08	256874	140773889	40141371	15	16718											
UBR2	23304	broad.mit.edu	37	chr6	42620325	42620325	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gttgtgcatcatgggaacaaTtctgcaatgggctgtggaac	10	11	13	7	0	2	0	1	0	1	0	2	2	2	2	0	3	4	4	0	3	4	2			TCGA-KK-A7B0-01A-11D-A32B-08	TCGA-KK-A7B0-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	379f2694-a7e1-4f6f-98c1-aabaa42f883c	b2e1507b-1fa5-4368-a706-2eee5e98d006	g.chr6:42620325T>G	ENST00000372899.1	+	25	2969	c.2711T>G	c.(2710-2712)aTt>aGt	p.I904S	UBR2_ENST00000372883.3_Missense_Mutation_p.I408S|UBR2_ENST00000372901.1_Missense_Mutation_p.I904S	NM_015255.2	NP_056070.1	Q8IWV8	UBR2_HUMAN	ubiquitin protein ligase E3 component n-recognin 2	904					cellular response to leucine (GO:0071233)|chromatin silencing (GO:0006342)|histone H2A ubiquitination (GO:0033522)|male meiosis I (GO:0007141)|negative regulation of TOR signaling (GO:0032007)|spermatogenesis (GO:0007283)|ubiquitin-dependent protein catabolic process (GO:0006511)	chromatin (GO:0000785)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ubiquitin ligase complex (GO:0000151)	leucine binding (GO:0070728)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(10)|kidney(7)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|skin(5)	64	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.004)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.196)			ATGGGAACAATTCTGCAATGG	0.428																																						ENST00000372899.1																			0				breast(1)|central_nervous_system(1)|endometrium(10)|kidney(7)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|skin(5)	64						c.(2710-2712)aTt>aGt		ubiquitin protein ligase E3 component n-recognin 2							193	170	178					6																	42620325		2203	4300	6503	SO:0001583	missense	23304				cellular response to leucine|chromatin silencing|histone H2A ubiquitination|negative regulation of TOR signaling cascade	nucleus|plasma membrane	leucine binding|zinc ion binding	g.chr6:42620325T>G	BC024217	CCDS4870.1, CCDS55001.1	6p21.1	2008-06-23	2005-01-10	2005-01-12	ENSG00000024048	ENSG00000024048		"Ubiquitin protein ligase E3 component n-recognins"	21289	protein-coding gene	gene with protein product		609134	"chromosome 6 open reading frame 133"	C6orf133			Standard	NM_015255		Approved	bA49A4.1, dJ392M17.3, KIAA0349	uc011dur.2	Q8IWV8	OTTHUMG00000014703	ENST00000372899.1:c.2711T>G	6.37:g.42620325T>G	ENSP00000361990:p.Ile904Ser					UBR2_ENST00000372901.1_Missense_Mutation_p.I904S|UBR2_ENST00000372883.3_Missense_Mutation_p.I408S	p.I904S	NM_015255.2	NP_056070.1	Q8IWV8	UBR2_HUMAN	Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.004)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.196)		25	2969	+	Colorectal(47;0.196)		904					O15057|Q4VXK2|Q5TFH6|Q6P2I2|Q6ZUD0	Missense_Mutation	SNP	ENST00000372899.1	37	c.2711T>G	CCDS4870.1	.	.	.	.	.	.	.	.	.	.	T	17.20	3.328408	0.60743	.	.	ENSG00000024048	ENST00000372899;ENST00000372901;ENST00000372883	T;T;T	0.55052	0.54;0.54;0.54	5.52	5.52	0.82312	.	0.306737	0.37178	N	0.002211	T	0.40297	0.1111	L	0.59436	1.845	0.44345	D	0.997239	B;B	0.29716	0.227;0.255	B;B	0.36666	0.23;0.172	T	0.35943	-0.9768	10	0.25751	T	0.34	-33.2949	15.6293	0.76888	0.0:0.0:0.0:1.0	.	904;904	Q8IWV8-4;Q8IWV8	.;UBR2_HUMAN	S	904;904;408	ENSP00000361990:I904S;ENSP00000361992:I904S;ENSP00000361974:I408S	ENSP00000361974:I408S	I	+	2	0	UBR2	42728303	1.000000	0.71417	0.032000	0.17829	0.997000	0.91878	7.282000	0.78630	2.087000	0.62958	0.533000	0.62120	ATT		0.428	UBR2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040558.2	NM_015255		31	113	0	0	0	1	0	31	113					G	42620325	T	G	42620325	3	3	327	1	0	0	0	0	1	0	0	0	16899	1493	52	5	2955	5	UBR2	6	42620325	Missense_Mutation	SNP	T	TCGA-KK-A7B0-01A-11D-A32B-08		42620325	128494742	16	16719											
LRRN3	54674	broad.mit.edu	37	chr7	110764938	110764938	+	Missense_Mutation	SNP	C	C	G																															aagcaactgttataggtttaCcaacaaatatgtcctaaaaa																										TCGA-KK-A7B0-01A-11D-A32B-08	TCGA-KK-A7B0-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	379f2694-a7e1-4f6f-98c1-aabaa42f883c	b2e1507b-1fa5-4368-a706-2eee5e98d006	g.chr7:110764938C>G	ENST00000422987.3	+	2	2941	c.2110C>G	c.(2110-2112)Cca>Gca	p.P704A	LRRN3_ENST00000451085.1_Missense_Mutation_p.P704A|IMMP2L_ENST00000405709.2_Intron|IMMP2L_ENST00000415362.1_Intron|IMMP2L_ENST00000452895.1_Intron|IMMP2L_ENST00000489381.1_Intron|IMMP2L_ENST00000450877.1_Intron|IMMP2L_ENST00000447215.1_Intron|LRRN3_ENST00000308478.5_Missense_Mutation_p.P704A|IMMP2L_ENST00000331762.3_Intron|IMMP2L_ENST00000437687.1_Intron	NM_018334.4	NP_060804.3	Q9H3W5	LRRN3_HUMAN	leucine rich repeat neuronal 3	704					positive regulation of protein phosphorylation (GO:0001934)	clathrin adaptor complex (GO:0030131)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(15)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				UCEC - Uterine corpus endometrioid carcinoma (4;0.245)|LUSC - Lung squamous cell carcinoma(290;0.0715)|Lung(3;0.0864)|STAD - Stomach adenocarcinoma(3;0.125)		TATAGGTTTACCAACAAATAT	0.343																																						ENST00000451085.1																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(15)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	55						c.(2110-2112)Cca>Gca		leucine rich repeat neuronal 3							40	43	42					7																	110764938		2203	4300	6503	SO:0001583	missense	54674					integral to membrane		g.chr7:110764938C>G	AB060967	CCDS5754.1	7q31.1	2013-02-11			ENSG00000173114	ENSG00000173114		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	17200	protein-coding gene	gene with protein product	"fibronectin type III, immunoglobulin and leucine rich repeat domains 5"					11549284	Standard	NM_001099660		Approved	NLRR3, FLJ11129, FIGLER5	uc003vfs.4	Q9H3W5	OTTHUMG00000155039	ENST00000422987.3:c.2110C>G	7.37:g.110764938C>G	ENSP00000412417:p.Pro704Ala					IMMP2L_ENST00000447215.1_Intron|IMMP2L_ENST00000452895.1_Intron|LRRN3_ENST00000422987.3_Missense_Mutation_p.P704A|IMMP2L_ENST00000405709.2_Intron|LRRN3_ENST00000308478.5_Missense_Mutation_p.P704A|IMMP2L_ENST00000415362.1_Intron|IMMP2L_ENST00000437687.1_Intron|IMMP2L_ENST00000331762.3_Intron|IMMP2L_ENST00000489381.1_Intron|IMMP2L_ENST00000450877.1_Intron	p.P704A	NM_001099660.1	NP_001093130.1	Q9H3W5	LRRN3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;0.245)|LUSC - Lung squamous cell carcinoma(290;0.0715)|Lung(3;0.0864)|STAD - Stomach adenocarcinoma(3;0.125)	4	3156	+			704					O43377|Q6I9V8|Q8IYQ6	Missense_Mutation	SNP	ENST00000422987.3	37	c.2110C>G	CCDS5754.1	.	.	.	.	.	.	.	.	.	.	C	14.75	2.629955	0.46944	.	.	ENSG00000173114	ENST00000308478;ENST00000451085;ENST00000422987	T;T;T	0.60171	0.21;0.21;0.21	5.26	5.26	0.73747	.	0.251074	0.28093	N	0.016623	T	0.55210	0.1906	M	0.62723	1.935	0.45183	D	0.99819	P	0.40083	0.702	B	0.34418	0.182	T	0.57388	-0.7820	10	0.32370	T	0.25	.	19.2262	0.93819	0.0:1.0:0.0:0.0	.	704	Q9H3W5	LRRN3_HUMAN	A	704	ENSP00000312001:P704A;ENSP00000397312:P704A;ENSP00000412417:P704A	ENSP00000312001:P704A	P	+	1	0	LRRN3	110552174	1.000000	0.71417	1.000000	0.80357	0.788000	0.44548	4.327000	0.59247	2.608000	0.88229	0.591000	0.81541	CCA		0.343	LRRN3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338171.2	NM_018334		7	41	0	0	0	1	0	7	41					G	110764938	C	G	110764938	3	3	327	1	0	0	0	0	1	0	0	0	9036	507	18	5	2112	5	LRRN3	7	110764938	Missense_Mutation	SNP	C	TCGA-KK-A7B0-01A-11D-A32B-08		110764938	48373725	17	16720	83	2									
LRRN3	54674	broad.mit.edu	37	chr7	110764942	110764942	+	Missense_Mutation	SNP	C	C	A																															aactgttataggtttaccaaCaaatatgtcctaaaaaccac																										TCGA-KK-A7B0-01A-11D-A32B-08	TCGA-KK-A7B0-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	379f2694-a7e1-4f6f-98c1-aabaa42f883c	b2e1507b-1fa5-4368-a706-2eee5e98d006	g.chr7:110764942C>A	ENST00000422987.3	+	2	2945	c.2114C>A	c.(2113-2115)aCa>aAa	p.T705K	LRRN3_ENST00000451085.1_Missense_Mutation_p.T705K|IMMP2L_ENST00000405709.2_Intron|IMMP2L_ENST00000415362.1_Intron|IMMP2L_ENST00000452895.1_Intron|IMMP2L_ENST00000489381.1_Intron|IMMP2L_ENST00000450877.1_Intron|IMMP2L_ENST00000447215.1_Intron|LRRN3_ENST00000308478.5_Missense_Mutation_p.T705K|IMMP2L_ENST00000331762.3_Intron|IMMP2L_ENST00000437687.1_Intron	NM_018334.4	NP_060804.3	Q9H3W5	LRRN3_HUMAN	leucine rich repeat neuronal 3	705					positive regulation of protein phosphorylation (GO:0001934)	clathrin adaptor complex (GO:0030131)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(15)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				UCEC - Uterine corpus endometrioid carcinoma (4;0.245)|LUSC - Lung squamous cell carcinoma(290;0.0715)|Lung(3;0.0864)|STAD - Stomach adenocarcinoma(3;0.125)		GGTTTACCAACAAATATGTCC	0.343																																						ENST00000451085.1																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(15)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	55						c.(2113-2115)aCa>aAa		leucine rich repeat neuronal 3							38	40	40					7																	110764942		2203	4300	6503	SO:0001583	missense	54674					integral to membrane		g.chr7:110764942C>A	AB060967	CCDS5754.1	7q31.1	2013-02-11			ENSG00000173114	ENSG00000173114		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	17200	protein-coding gene	gene with protein product	"fibronectin type III, immunoglobulin and leucine rich repeat domains 5"					11549284	Standard	NM_001099660		Approved	NLRR3, FLJ11129, FIGLER5	uc003vfs.4	Q9H3W5	OTTHUMG00000155039	ENST00000422987.3:c.2114C>A	7.37:g.110764942C>A	ENSP00000412417:p.Thr705Lys					IMMP2L_ENST00000447215.1_Intron|IMMP2L_ENST00000452895.1_Intron|LRRN3_ENST00000422987.3_Missense_Mutation_p.T705K|IMMP2L_ENST00000405709.2_Intron|LRRN3_ENST00000308478.5_Missense_Mutation_p.T705K|IMMP2L_ENST00000415362.1_Intron|IMMP2L_ENST00000437687.1_Intron|IMMP2L_ENST00000331762.3_Intron|IMMP2L_ENST00000489381.1_Intron|IMMP2L_ENST00000450877.1_Intron	p.T705K	NM_001099660.1	NP_001093130.1	Q9H3W5	LRRN3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;0.245)|LUSC - Lung squamous cell carcinoma(290;0.0715)|Lung(3;0.0864)|STAD - Stomach adenocarcinoma(3;0.125)	4	3160	+			705					O43377|Q6I9V8|Q8IYQ6	Missense_Mutation	SNP	ENST00000422987.3	37	c.2114C>A	CCDS5754.1	.	.	.	.	.	.	.	.	.	.	C	14.26	2.481562	0.44147	.	.	ENSG00000173114	ENST00000308478;ENST00000451085;ENST00000422987	T;T;T	0.61392	0.11;0.11;0.11	5.26	4.32	0.51571	.	0.752485	0.11562	N	0.551643	T	0.57519	0.2059	M	0.61703	1.905	0.38163	D	0.939099	B	0.18166	0.026	B	0.18561	0.022	T	0.55952	-0.8059	10	0.36615	T	0.2	.	15.6344	0.76941	0.0:0.8625:0.1375:0.0	.	705	Q9H3W5	LRRN3_HUMAN	K	705	ENSP00000312001:T705K;ENSP00000397312:T705K;ENSP00000412417:T705K	ENSP00000312001:T705K	T	+	2	0	LRRN3	110552178	1.000000	0.71417	0.998000	0.56505	0.766000	0.43426	4.567000	0.60850	2.608000	0.88229	0.591000	0.81541	ACA		0.343	LRRN3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338171.2	NM_018334		8	38	1	0	2.17888e-05	1	2.476e-05	8	38					A	110764942	C	A	110764942	3	1	327	1	0	0	0	0	1	0	0	0	9036	478	17	5	2116	5	LRRN3	7	110764942	Missense_Mutation	SNP	C	TCGA-KK-A7B0-01A-11D-A32B-08	4	110764942	48373721	18	16721	83	2									
SHC3	53358	broad.mit.edu	37	chr9	91727511	91727511	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	actgaagtcaagagacctcaTtgagcgcagaacttcaatgc	14	8	9	10	1	3	4	3	2	0	2	3	5	3	4	1	0	3	1	1	0	4	2	rs200962607		TCGA-KK-A7B0-01A-11D-A32B-08	TCGA-KK-A7B0-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	379f2694-a7e1-4f6f-98c1-aabaa42f883c	b2e1507b-1fa5-4368-a706-2eee5e98d006	g.chr9:91727511T>C	ENST00000375835.4	-	2	811	c.505A>G	c.(505-507)Atg>Gtg	p.M169V	RP11-82L18.2_ENST00000429700.1_RNA|SHC3_ENST00000375830.1_5'UTR	NM_016848.5	NP_058544.3	Q92529	SHC3_HUMAN	SHC (Src homology 2 domain containing) transforming protein 3	169	PID. {ECO:0000255|PROSITE- ProRule:PRU00148}.				central nervous system development (GO:0007417)|epidermal growth factor receptor signaling pathway (GO:0007173)|insulin receptor signaling pathway (GO:0008286)|learning or memory (GO:0007611)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Ras protein signal transduction (GO:0007265)|synaptic transmission, glutamatergic (GO:0035249)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytosol (GO:0005829)	signal transducer activity (GO:0004871)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|skin(3)	28						AGAGACCTCATTGAGCGCAGA	0.413													T|||	1	0.000199681	0	0	5008	,	,		19619	0.001		0	False		,,,				2504	0					ENST00000375835.4																			0				breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|skin(3)	28						c.(505-507)Atg>Gtg		SHC (Src homology 2 domain containing) transforming protein 3							108	101	104					9																	91727511		2203	4299	6502	SO:0001583	missense	53358				central nervous system development|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|Ras protein signal transduction	cytosol	protein binding|signal transducer activity	g.chr9:91727511T>C	D84361	CCDS6681.1	9q22.1	2013-02-14	2005-05-24		ENSG00000148082	ENSG00000148082		"SH2 domain containing"	18181	protein-coding gene	gene with protein product		605263	"src homology 2 domain containing transforming protein C3"			8808684	Standard	NM_016848		Approved	N-Shc, NSHC, SHCC	uc004aqf.2	Q92529	OTTHUMG00000020179	ENST00000375835.4:c.505A>G	9.37:g.91727511T>C	ENSP00000364995:p.Met169Val					SHC3_ENST00000375830.1_5'UTR	p.M169V	NM_016848.5	NP_058544.3	Q92529	SHC3_HUMAN			2	811	-			169			PID.		Q5T7I7|Q8TAP2|Q9UCX5	Missense_Mutation	SNP	ENST00000375835.4	37	c.505A>G	CCDS6681.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	T	19.75	3.885554	0.72410	.	.	ENSG00000148082	ENST00000375835	T	0.14391	2.51	4.96	4.96	0.65561	Phosphotyrosine interaction (PID/PI) (1);Phosphotyrosine interaction domain (3);Pleckstrin homology-type (1);	0.000000	0.85682	D	0.000000	T	0.43433	0.1247	M	0.89840	3.065	0.80722	D	1	D	0.62365	0.991	D	0.81914	0.995	T	0.52064	-0.8625	10	0.87932	D	0	-18.8731	12.2544	0.54615	0.0:0.0:0.0:1.0	.	169	Q92529	SHC3_HUMAN	V	169	ENSP00000364995:M169V	ENSP00000364995:M169V	M	-	1	0	SHC3	90917331	1.000000	0.71417	0.970000	0.41538	0.983000	0.72400	5.743000	0.68655	2.099000	0.63709	0.482000	0.46254	ATG		0.413	SHC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052986.1	NM_016848		9	61	0	0	0	1	0	9	61					C	91727511	T	C	91727511	3	2	327	1	0	0	0	0	1	0	0	0	14272	1493	52	4	1323	4	SHC3	9	91727511	Missense_Mutation	SNP	T	TCGA-KK-A7B0-01A-11D-A32B-08		91727511	49485920	19	16722											
PSMD5	5711	broad.mit.edu	37	chr9	123591480	123591480	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgacacggaagaaatctctaTaattagctgaaataaaaaaa	21	9	6	5	1	1	3	0	2	1	1	2	4	1	4	0	1	1	1	0	1	10	4			TCGA-KK-A7B0-01A-11D-A32B-08	TCGA-KK-A7B0-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	379f2694-a7e1-4f6f-98c1-aabaa42f883c	b2e1507b-1fa5-4368-a706-2eee5e98d006	g.chr9:123591480T>C	ENST00000210313.3	-	5	642	c.568A>G	c.(568-570)Ata>Gta	p.I190V	PSMD5_ENST00000373904.5_Missense_Mutation_p.I147V|PSMD5-AS1_ENST00000589026.1_RNA	NM_001270427.1|NM_005047.3	NP_001257356.1|NP_005038.1	Q16401	PSMD5_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 5	190					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|proteasome regulatory particle assembly (GO:0070682)|protein folding (GO:0006457)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)				endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|prostate(1)	10						GAAATCTCTATAATTAGCTGA	0.383																																						ENST00000210313.3																			0				endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|prostate(1)	10						c.(568-570)Ata>Gta		proteasome (prosome, macropain) 26S subunit, non-ATPase, 5							64	68	67					9																	123591480		2203	4300	6503	SO:0001583	missense	5711				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|proteasome regulatory particle assembly|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome complex	protein binding	g.chr9:123591480T>C	AK001065	CCDS6824.1, CCDS59143.1	9q34.11	2008-02-05			ENSG00000095261	ENSG00000095261		"Proteasome (prosome, macropain) subunits"	9563	protein-coding gene	gene with protein product		604452				7559544	Standard	NM_005047		Approved	S5B, KIAA0072	uc004bko.4	Q16401	OTTHUMG00000020573	ENST00000210313.3:c.568A>G	9.37:g.123591480T>C	ENSP00000210313:p.Ile190Val					PSMD5_ENST00000373904.5_Missense_Mutation_p.I147V|PSMD5-AS1_ENST00000589026.1_RNA	p.I190V	NM_001270427.1|NM_005047.3	NP_001257356.1|NP_005038.1	Q16401	PSMD5_HUMAN			5	642	-			190					B4DZM8|Q15045|Q4VXG8	Missense_Mutation	SNP	ENST00000210313.3	37	c.568A>G	CCDS6824.1	.	.	.	.	.	.	.	.	.	.	T	3.407	-0.121047	0.06838	.	.	ENSG00000095261	ENST00000210313;ENST00000373904	T;T	0.26067	1.76;1.76	5.68	2.84	0.33178	Armadillo-like helical (1);Armadillo-type fold (1);	0.165253	0.53938	N	0.000059	T	0.06096	0.0158	N	0.00642	-1.3	0.27735	N	0.944664	B;B	0.06786	0.0;0.001	B;B	0.09377	0.003;0.004	T	0.40384	-0.9566	10	0.02654	T	1	.	9.8379	0.40980	0.0:0.7708:0.0:0.2292	.	147;190	B4DZM8;Q16401	.;PSMD5_HUMAN	V	190;147	ENSP00000210313:I190V;ENSP00000363011:I147V	ENSP00000210313:I190V	I	-	1	0	PSMD5	122631301	1.000000	0.71417	0.997000	0.53966	0.953000	0.61014	2.311000	0.43717	0.325000	0.23359	-0.836000	0.03065	ATA		0.383	PSMD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053825.2	NM_005047		3	27	0	0	0	1	0	3	27					C	123591480	T	C	123591480	3	2	327	1	0	0	0	0	1	0	0	0	12701	1406	49	4	970	4	PSMD5	9	123591480	Missense_Mutation	SNP	T	TCGA-KK-A7B0-01A-11D-A32B-08	31863969	123591480	17621951	20	16723											
DLG5	9231	broad.mit.edu	37	chr10	79613112	79613114	+	Splice_Site	DEL	CTG	CTG	-																															tctccaggggctgggcctacCtgctgctgctgggcacggag																										TCGA-KK-A7B0-01A-11D-A32B-08	TCGA-KK-A7B0-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	379f2694-a7e1-4f6f-98c1-aabaa42f883c	b2e1507b-1fa5-4368-a706-2eee5e98d006	g.chr10:79613112_79613114delCTG	ENST00000372391.2	-	5	867_869	c.862_864delCAG	c.(862-864)cagdel	p.Q288del	DLG5_ENST00000372388.2_Splice_Site_p.Q288del	NM_004747.3	NP_004738.3	Q8TDM6	DLG5_HUMAN	discs, large homolog 5 (Drosophila)	288					apical protein localization (GO:0045176)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|intracellular signal transduction (GO:0035556)|metanephric collecting duct development (GO:0072205)|midbrain development (GO:0030901)|negative regulation of cell proliferation (GO:0008285)|polarized epithelial cell differentiation (GO:0030859)|protein complex assembly (GO:0006461)|protein localization to adherens junction (GO:0071896)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|zonula adherens assembly (GO:0045186)	cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|cytoskeletal protein binding (GO:0008092)|receptor signaling complex scaffold activity (GO:0030159)			breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	60	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)			ctgggCCTACCTGCTGCTGCTGG	0.576																																						ENST00000372391.2																			0				breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	60						c.e5+1		discs, large homolog 5 (Drosophila)				19,4235		0,19,2108						4.6	1			29	80,8134		6,68,4033	no	coding-near-splice	DLG5	NM_004747.3		6,87,6141	A1A1,A1R,RR		0.9739,0.4466,0.794				99,12369				SO:0001630	splice_region_variant	9231				cell-cell adhesion|intracellular signal transduction|negative regulation of cell proliferation|regulation of apoptosis	cell junction|cytoplasm	beta-catenin binding|cytoskeletal protein binding|receptor signaling complex scaffold activity	g.chr10:79613112_79613114delCTG	U61843	CCDS7353.2	10q23	2008-07-09	2001-11-28		ENSG00000151208	ENSG00000151208			2904	protein-coding gene	gene with protein product		604090	"discs, large (Drosophila) homolog 5"			9738934	Standard	XM_005270276		Approved	P-dlg, KIAA0583	uc001jzk.3	Q8TDM6	OTTHUMG00000018548	ENST00000372391.2:c.864+1CAG>-	10.37:g.79613121_79613123delCTG						DLG5_ENST00000372388.2_Splice_Site_p.Q288_splice	p.Q288_splice	NM_004747.3	NP_004738.3	Q8TDM6	DLG5_HUMAN	Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)		5	867_869	-	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		288					A6H8Y3|Q149N1|Q5T1H7|Q5T1H8|Q6DKG3|Q86WC0|Q8TDM7|Q9UE73|Q9Y4E3	Splice_Site	DEL	ENST00000372391.2	37	c.864_splice	CCDS7353.2																																																																																				0.576	DLG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048900.2		In_Frame_Del	2	4						2	4	---	---	---	---	-	79613114	CTG	-	79613112	8	5	327	1	0	1	0	1	0	0	1	0	4558	695	24	0	5007	0	DLG5	10	79613112	Splice_Site	DEL	CTG	TCGA-KK-A7B0-01A-11D-A32B-08		79613112	55921635	21	16724											
EBF3	253738	broad.mit.edu	37	chr10	131761766	131761766	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggcggctgcttctcgaagtgCgcccgcgccagccccacgcc	4	5	13	19	6	1	0	0	0	1	0	2	1	1	0	5	2	3	2	5	2	1	1			TCGA-KK-A7B0-01A-11D-A32B-08	TCGA-KK-A7B0-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	379f2694-a7e1-4f6f-98c1-aabaa42f883c	b2e1507b-1fa5-4368-a706-2eee5e98d006	g.chr10:131761766C>T	ENST00000355311.5	-	2	228	c.156G>A	c.(154-156)gcG>gcA	p.A52A	EBF3_ENST00000368648.3_Silent_p.A52A			Q9H4W6	COE3_HUMAN	early B-cell factor 3	52					multicellular organismal development (GO:0007275)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	44		all_cancers(35;1.8e-08)|all_epithelial(44;8.26e-08)|Lung NSC(174;0.0091)|all_lung(145;0.0123)|Breast(234;0.039)|all_neural(114;0.0722)|Colorectal(57;0.0764)		OV - Ovarian serous cystadenocarcinoma(35;0.00513)		TCTCGAAGTGCGCCCGCGCCA	0.711																																						ENST00000368648.3																			0				central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	44						c.(154-156)gcG>gcA		early B-cell factor 3							28	32	31					10																	131761766		2203	4300	6503	SO:0001819	synonymous_variant	253738				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding|protein binding	g.chr10:131761766C>T		CCDS31314.1	10q26.3	2007-03-30			ENSG00000108001	ENSG00000108001			19087	protein-coding gene	gene with protein product		607407				12355068	Standard	NM_001005463		Approved	COE3, DKFZp667B0210	uc001lki.2	Q9H4W6	OTTHUMG00000019265	ENST00000355311.5:c.156G>A	10.37:g.131761766C>T						EBF3_ENST00000355311.5_Silent_p.A52A	p.A52A	NM_001005463.2	NP_001005463.1	Q9H4W6	COE3_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;0.00513)	2	228	-		all_cancers(35;1.8e-08)|all_epithelial(44;8.26e-08)|Lung NSC(174;0.0091)|all_lung(145;0.0123)|Breast(234;0.039)|all_neural(114;0.0722)|Colorectal(57;0.0764)	52					A0AUY1|Q5T6H9|Q9H4W5	Silent	SNP	ENST00000355311.5	37	c.156G>A																																																																																					0.711	EBF3-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000051015.2	NM_001005463		3	23	0	0	0	1	0	3	23					T	131761766	C	T	131761766	2	4	327	1	0	0	0	0	0	0	0	1	4882	755	27	1		1	EBF3	10	131761766	Silent	SNP	C	TCGA-KK-A7B0-01A-11D-A32B-08	52148654	131761766	3772981	22	16725											
MUC2	4583	broad.mit.edu	37	chr11	1083190	1083190	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gggctttgcgcctgtggacgGctgcggctgccctgaccaca	4	8	15	14	3	0	1	0	1	0	0	0	2	0	2	3	4	3	3	3	4	0	1			TCGA-KK-A7B0-01A-11D-A32B-08	TCGA-KK-A7B0-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	379f2694-a7e1-4f6f-98c1-aabaa42f883c	b2e1507b-1fa5-4368-a706-2eee5e98d006	g.chr11:1083190G>T	ENST00000441003.2	+	16	2117	c.2090G>T	c.(2089-2091)gGc>gTc	p.G697V	MUC2_ENST00000359061.5_Missense_Mutation_p.G697V	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	697					cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi lumen (GO:0005796)|inner mucus layer (GO:0070702)|outer mucus layer (GO:0070703)				NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	CCTGTGGACGGCTGCGGCTGC	0.667																																						ENST00000441003.2																			0				NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102						c.(2089-2091)gGc>gTc		mucin 2, oligomeric mucus/gel-forming	Pranlukast(DB01411)						25	30	29					11																	1083190		2041	4164	6205	SO:0001583	missense	4583					inner mucus layer|outer mucus layer	protein binding	g.chr11:1083190G>T	L21998		11p15.5	2011-01-28	2006-03-14		ENSG00000198788	ENSG00000198788		"Mucins"	7512	protein-coding gene	gene with protein product		158370	"mucin 2, intestinal/tracheal"			15081123	Standard	NM_002457		Approved		uc001lsx.1	Q02817	OTTHUMG00000156800	ENST00000441003.2:c.2090G>T	11.37:g.1083190G>T	ENSP00000415183:p.Gly697Val					MUC2_ENST00000359061.5_Missense_Mutation_p.G697V	p.G697V	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	16	2117	+		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)	697					Q14878	Missense_Mutation	SNP	ENST00000441003.2	37	c.2090G>T		.	.	.	.	.	.	.	.	.	.	g	14.21	2.468707	0.43839	.	.	ENSG00000198788	ENST00000441003;ENST00000359061	D;D	0.83673	-1.75;-1.75	4.49	4.49	0.54785	.	0.000000	0.64402	D	0.000003	D	0.93347	0.7879	M	0.94021	3.485	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95200	0.8316	10	0.87932	D	0	.	17.3535	0.87329	0.0:0.0:1.0:0.0	.	697	E7EUV1	.	V	697	ENSP00000415183:G697V;ENSP00000351956:G697V	ENSP00000351956:G697V	G	+	2	0	MUC2	1073190	1.000000	0.71417	1.000000	0.80357	0.139000	0.21198	9.370000	0.97159	2.334000	0.79466	0.556000	0.70494	GGC		0.667	MUC2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000345894.2	NM_002457		4	23	1	0	0.00198382	1	0.00215632	4	23					T	1083190	G	T	1083190	3	4	327	1	0	0	0	0	1	0	0	0	9975	1203	42	5	2152	5	MUC2	11	1083190	Missense_Mutation	SNP	G	TCGA-KK-A7B0-01A-11D-A32B-08		1083190	133923326	23	16726											
OR8K5	219453	broad.mit.edu	37	chr11	55927409	55927409	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	aataacataatagagcagagGgttacaaatggccacatagc	18	7	9	7	0	0	2	0	0	0	2	0	2	0	2	1	2	4	2	1	2	7	5			TCGA-KK-A7B0-01A-11D-A32B-08	TCGA-KK-A7B0-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	379f2694-a7e1-4f6f-98c1-aabaa42f883c	b2e1507b-1fa5-4368-a706-2eee5e98d006	g.chr11:55927409G>T	ENST00000313447.1	-	1	384	c.385C>A	c.(385-387)Cct>Act	p.P129T		NM_001004058.2	NP_001004058.2	Q8NH50	OR8K5_HUMAN	olfactory receptor, family 8, subfamily K, member 5	129						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			large_intestine(3)|lung(24)|ovary(2)|pancreas(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	34	Esophageal squamous(21;0.00693)	Lung NSC(402;0.197)|all_epithelial(135;0.236)				TAGAGCAGAGGGTTACAAATG	0.428																																						ENST00000313447.1																			0				large_intestine(3)|lung(24)|ovary(2)|pancreas(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	34						c.(385-387)Cct>Act		olfactory receptor, family 8, subfamily K, member 5							85	86	85					11																	55927409		2201	4295	6496	SO:0001583	missense	219453				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55927409G>T	BK004347	CCDS31521.1	11q11	2012-08-09			ENSG00000181752	ENSG00000181752		"GPCR / Class A : Olfactory receptors"	15315	protein-coding gene	gene with protein product							Standard	NM_001004058		Approved		uc010rja.2	Q8NH50	OTTHUMG00000166820	ENST00000313447.1:c.385C>A	11.37:g.55927409G>T	ENSP00000323853:p.Pro129Thr						p.P129T	NM_001004058.2	NP_001004058.2	Q8NH50	OR8K5_HUMAN			1	384	-	Esophageal squamous(21;0.00693)	Lung NSC(402;0.197)|all_epithelial(135;0.236)	129					Q6IFB5	Missense_Mutation	SNP	ENST00000313447.1	37	c.385C>A	CCDS31521.1	.	.	.	.	.	.	.	.	.	.	G	17.68	3.450508	0.63290	.	.	ENSG00000181752	ENST00000313447	T	0.01887	4.58	4.18	4.18	0.49190	GPCR, rhodopsin-like superfamily (1);	0.000000	0.56097	D	0.000029	T	0.20659	0.0497	H	0.98664	4.295	0.42993	D	0.99449	D	0.65815	0.995	P	0.58970	0.849	T	0.49579	-0.8925	10	0.87932	D	0	.	16.1053	0.81216	0.0:0.0:1.0:0.0	.	129	Q8NH50	OR8K5_HUMAN	T	129	ENSP00000323853:P129T	ENSP00000323853:P129T	P	-	1	0	OR8K5	55683985	1.000000	0.71417	1.000000	0.80357	0.301000	0.27625	6.670000	0.74467	2.308000	0.77769	0.567000	0.79289	CCT		0.428	OR8K5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391543.1	NM_001004058		5	66	1	0	0.014758	1	0.0150592	5	66					T	55927409	G	T	55927409	3	4	327	1	0	0	0	0	1	0	0	0	11245	1232	43	5	541	5	OR8K5	11	55927409	Missense_Mutation	SNP	G	TCGA-KK-A7B0-01A-11D-A32B-08	54844219	55927409	79079107	24	16727											
OR6M1	390261	broad.mit.edu	37	chr11	123677008	123677008	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atattcgaatctccaggagaGctgggaaggcaattagggtg	12	9	14	6	1	1	1	0	0	1	1	3	4	1	2	1	4	1	2	1	4	5	3			TCGA-KK-A7B0-01A-11D-A32B-08	TCGA-KK-A7B0-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	379f2694-a7e1-4f6f-98c1-aabaa42f883c	b2e1507b-1fa5-4368-a706-2eee5e98d006	g.chr11:123677008G>C	ENST00000309154.2	-	1	87	c.50C>G	c.(49-51)gCt>gGt	p.A17G		NM_001005325.1	NP_001005325.1	Q8NGM8	OR6M1_HUMAN	olfactory receptor, family 6, subfamily M, member 1	17						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|prostate(2)|skin(5)|urinary_tract(1)	29		Breast(109;0.0109)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.028)		CTCCAGGAGAGCTGGGAAGGC	0.438																																						ENST00000309154.2																			0				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|prostate(2)|skin(5)|urinary_tract(1)	29						c.(49-51)gCt>gGt		olfactory receptor, family 6, subfamily M, member 1							89	79	82					11																	123677008		2202	4299	6501	SO:0001583	missense	390261				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:123677008G>C	AB065762	CCDS31696.1	11q24.1	2012-08-09			ENSG00000196099	ENSG00000196099		"GPCR / Class A : Olfactory receptors"	14711	protein-coding gene	gene with protein product							Standard	NM_001005325		Approved		uc010rzz.2	Q8NGM8	OTTHUMG00000166012	ENST00000309154.2:c.50C>G	11.37:g.123677008G>C	ENSP00000311038:p.Ala17Gly						p.A17G	NM_001005325.1	NP_001005325.1	Q8NGM8	OR6M1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.028)	1	87	-		Breast(109;0.0109)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)	17					B2RNK0|Q6IEW9|Q96R37	Missense_Mutation	SNP	ENST00000309154.2	37	c.50C>G	CCDS31696.1	.	.	.	.	.	.	.	.	.	.	G	1.227	-0.625356	0.03610	.	.	ENSG00000196099	ENST00000309154	T	0.00000	10.25	3.57	-2.74	0.05932	.	0.562392	0.13300	U	0.398320	T	0.00039	0.0001	N	0.04686	-0.185	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.23154	-1.0196	10	0.56958	D	0.05	.	0.838	0.01144	0.3286:0.3028:0.2149:0.1537	.	17	Q8NGM8	OR6M1_HUMAN	G	17	ENSP00000311038:A17G	ENSP00000311038:A17G	A	-	2	0	OR6M1	123182218	0.000000	0.05858	0.002000	0.10522	0.031000	0.12232	-3.720000	0.00384	-0.428000	0.07339	-0.170000	0.13304	GCT		0.438	OR6M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387437.1	NM_001005325		14	46	0	0	0	1	0	14	46					C	123677008	G	C	123677008	3	2	327	1	0	0	0	0	1	0	0	0	11205	971	34	5	894	5	OR6M1	11	123677008	Missense_Mutation	SNP	G	TCGA-KK-A7B0-01A-11D-A32B-08	67749599	123677008	11329508	25	16728											
FOXJ2	55810	broad.mit.edu	37	chr12	8203211	8203211	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggactcagcaggatacaatcGcccaggtaagagctaagaag	15	5	12	9	1	1	2	1	0	0	2	2	4	1	4	1	3	3	3	1	3	5	3			TCGA-KK-A7B0-01A-11D-A32B-08	TCGA-KK-A7B0-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	379f2694-a7e1-4f6f-98c1-aabaa42f883c	b2e1507b-1fa5-4368-a706-2eee5e98d006	g.chr12:8203211G>A	ENST00000162391.3	+	10	2776	c.1631G>A	c.(1630-1632)cGc>cAc	p.R544H	FOXJ2_ENST00000539192.1_3'UTR	NM_018416.2	NP_060886.1	Q9P0K8	FOXJ2_HUMAN	forkhead box J2	544					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)	nucleolus (GO:0005730)|nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)			autonomic_ganglia(1)|large_intestine(2)|lung(6)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	16				Kidney(36;0.0944)		GGATACAATCGCCCAGGTAAG	0.502																																						ENST00000162391.3																			0				autonomic_ganglia(1)|large_intestine(2)|lung(6)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	16						c.(1630-1632)cGc>cAc		forkhead box J2							114	104	108					12																	8203211		2203	4300	6503	SO:0001583	missense	55810				embryo development|organ development|pattern specification process|positive regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|tissue development	nucleolus|transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding	g.chr12:8203211G>A	AF155132	CCDS8587.1	12p13.31	2006-12-15				ENSG00000065970		"Forkhead boxes"	24818	protein-coding gene	gene with protein product						10777590, 10966786	Standard	NM_018416		Approved	FHX	uc001qtu.3	Q9P0K8		ENST00000162391.3:c.1631G>A	12.37:g.8203211G>A	ENSP00000162391:p.Arg544His					FOXJ2_ENST00000539192.1_3'UTR	p.R544H	NM_018416.2	NP_060886.1	Q9P0K8	FOXJ2_HUMAN		Kidney(36;0.0944)	10	2776	+			544					A0AVK4|B2RMP3|Q96PS9|Q9NSN5	Missense_Mutation	SNP	ENST00000162391.3	37	c.1631G>A	CCDS8587.1	.	.	.	.	.	.	.	.	.	.	G	24.7	4.562807	0.86335	.	.	ENSG00000065970	ENST00000162391	D	0.94232	-3.38	5.13	5.13	0.70059	.	0.370511	0.23083	N	0.052137	D	0.94614	0.8264	L	0.44542	1.39	0.80722	D	1	D	0.71674	0.998	D	0.72075	0.976	D	0.93720	0.7032	10	0.44086	T	0.13	.	13.9541	0.64137	0.0:0.0:1.0:0.0	.	544	Q9P0K8	FOXJ2_HUMAN	H	544	ENSP00000162391:R544H	ENSP00000162391:R544H	R	+	2	0	FOXJ2	8094478	1.000000	0.71417	0.999000	0.59377	0.982000	0.71751	5.756000	0.68757	2.655000	0.90218	0.655000	0.94253	CGC		0.502	FOXJ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400088.1	NM_018416		5	34	0	0	0	1	0	5	34					A	8203211	G	A	8203211	3	1	327	1	0	0	0	0	1	0	0	0	6012	1087	38	1	1665	1	FOXJ2	12	8203211	Missense_Mutation	SNP	G	TCGA-KK-A7B0-01A-11D-A32B-08		8203211	125648684	26	16729											
ERP27	121506	broad.mit.edu	37	chr12	15067692	15067692	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gagttccacctttggagtctTtccttctgattcacgatttt	6	18	7	10	1	3	1	1	1	2	0	5	4	5	2	3	1	0	1	3	1	0	7			TCGA-KK-A7B0-01A-11D-A32B-08	TCGA-KK-A7B0-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	379f2694-a7e1-4f6f-98c1-aabaa42f883c	b2e1507b-1fa5-4368-a706-2eee5e98d006	g.chr12:15067692T>G	ENST00000266397.2	-	7	1372	c.799A>C	c.(799-801)Aag>Cag	p.K267Q	ERP27_ENST00000544881.1_5'Flank|ERP27_ENST00000540097.1_Missense_Mutation_p.K166Q	NM_152321.2	NP_689534.1	Q96DN0	ERP27_HUMAN	endoplasmic reticulum protein 27	267						endoplasmic reticulum (GO:0005783)				breast(2)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(4)|lung(3)|prostate(2)|skin(1)	19						TTTGGAGTCTTTCCTTCTGAT	0.363																																						ENST00000266397.2																			0				breast(2)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(4)|lung(3)|prostate(2)|skin(1)	19						c.(799-801)Aag>Cag		endoplasmic reticulum protein 27							196	168	177					12																	15067692		2203	4300	6503	SO:0001583	missense	121506					endoplasmic reticulum lumen		g.chr12:15067692T>G	AK056677	CCDS8670.1, CCDS73450.1	12p12.3	2011-10-19	2009-02-23	2007-03-26	ENSG00000139055	ENSG00000139055		"Protein disulfide isomerases"	26495	protein-coding gene	gene with protein product	"protein disulfide isomerase family A, member 8"	610642	"chromosome 12 open reading frame 46", "endoplasmic reticulum protein 27 kDa"	C12orf46		12975309, 16940051	Standard	XM_005253303		Approved	FLJ32115, ERp27, PDIA8	uc001rco.3	Q96DN0	OTTHUMG00000168741	ENST00000266397.2:c.799A>C	12.37:g.15067692T>G	ENSP00000266397:p.Lys267Gln					ERP27_ENST00000540097.1_Missense_Mutation_p.K166Q	p.K267Q	NM_152321.2	NP_689534.1	Q96DN0	ERP27_HUMAN			7	1372	-			267						Missense_Mutation	SNP	ENST00000266397.2	37	c.799A>C	CCDS8670.1	.	.	.	.	.	.	.	.	.	.	T	5.045	0.194068	0.09599	.	.	ENSG00000139055	ENST00000266397;ENST00000540097	T;T	0.46819	1.84;0.86	4.54	1.76	0.24704	.	0.450849	0.25006	N	0.033867	T	0.44393	0.1291	L	0.50333	1.59	0.09310	N	1	D	0.58620	0.983	P	0.53401	0.725	T	0.24440	-1.0160	10	0.25106	T	0.35	-2.5365	3.5911	0.07989	0.0:0.1582:0.21:0.6318	.	267	Q96DN0	ERP27_HUMAN	Q	267;166	ENSP00000266397:K267Q;ENSP00000440573:K166Q	ENSP00000266397:K267Q	K	-	1	0	ERP27	14958959	0.853000	0.29707	0.004000	0.12327	0.109000	0.19521	0.949000	0.29109	0.353000	0.24079	-0.264000	0.10439	AAG		0.363	ERP27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400868.1	NM_152321		13	42	0	0	0	1	0	13	42					G	15067692	T	G	15067692	3	3	327	1	0	0	0	0	1	0	0	0	5241	1850	64	5	26	5	ERP27	12	15067692	Missense_Mutation	SNP	T	TCGA-KK-A7B0-01A-11D-A32B-08	6864481	15067692	118784203	27	16730											
CNPY2	10330	broad.mit.edu	37	chr12	56705040	56705040	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tctgagtcgattcggatgccTtgtaggtccagttcactgga	7	13	12	9	2	2	1	1	1	1	0	5	4	3	3	2	3	1	2	2	3	1	4			TCGA-KK-A7B0-01A-11D-A32B-08	TCGA-KK-A7B0-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	379f2694-a7e1-4f6f-98c1-aabaa42f883c	b2e1507b-1fa5-4368-a706-2eee5e98d006	g.chr12:56705040T>C	ENST00000273308.4	-	4	903	c.363A>G	c.(361-363)caA>caG	p.Q121Q	RP11-977G19.10_ENST00000549318.1_Silent_p.Q121Q|RP11-977G19.11_ENST00000549860.1_RNA|RP11-977G19.11_ENST00000549565.1_RNA|CNPY2_ENST00000551720.1_5'Flank|RP11-977G19.12_ENST00000546789.1_RNA	NM_014255.5	NP_055070.1	Q9Y2B0	CNPY2_HUMAN	canopy FGF signaling regulator 2	121	Saposin B-type. {ECO:0000255|PROSITE- ProRule:PRU00415}.				negative regulation of gene expression (GO:0010629)|positive regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045716)|regulation of low-density lipoprotein particle clearance (GO:0010988)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)				large_intestine(2)|lung(2)	4						TTCGGATGCCTTGTAGGTCCA	0.507																																						ENST00000273308.4																			0				large_intestine(2)|lung(2)	4						c.(361-363)caA>caG		canopy FGF signaling regulator 2							241	225	231					12																	56705040		2203	4300	6503	SO:0001819	synonymous_variant	10330					endoplasmic reticulum|integral to plasma membrane	protein binding	g.chr12:56705040T>C	AB015631	CCDS8914.1	12q15	2013-07-23	2013-07-23	2007-10-22		ENSG00000257727			13529	protein-coding gene	gene with protein product		605861	"transmembrane protein 4", "canopy 2 homolog (zebrafish)"	TMEM4		10072769, 15905959	Standard	NM_001190991		Approved	HP10390, ZSIG9, Cnpy2	uc001sku.2	Q9Y2B0	OTTHUMG00000170330	ENST00000273308.4:c.363A>G	12.37:g.56705040T>C						RP11-977G19.11_ENST00000549860.1_RNA|RP11-977G19.10_ENST00000549318.1_Silent_p.Q121Q|RP11-977G19.11_ENST00000549565.1_RNA	p.Q121Q	NM_014255.5	NP_055070.1	Q9Y2B0	CNPY2_HUMAN			4	903	-			121			Saposin B-type.		B2R7B9|Q9UHE9	Silent	SNP	ENST00000273308.4	37	c.363A>G	CCDS8914.1																																																																																				0.507	CNPY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408546.1	NM_014255		26	136	0	0	0	1	0	26	136					C	56705040	T	C	56705040	2	2	327	1	0	0	0	0	0	0	0	1	3628	1606	56	4		4	CNPY2	12	56705040	Silent	SNP	T	TCGA-KK-A7B0-01A-11D-A32B-08	41637348	56705040	77146855	28	16731											
STAB2	55576	broad.mit.edu	37	chr12	104046463	104046463	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ccttgactggaaagtcggggGaaatcttcaacagcgataag	13	8	12	8	2	2	1	1	1	1	0	3	4	2	3	1	3	2	0	1	3	4	3			TCGA-KK-A7B0-01A-11D-A32B-08	TCGA-KK-A7B0-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	379f2694-a7e1-4f6f-98c1-aabaa42f883c	b2e1507b-1fa5-4368-a706-2eee5e98d006	g.chr12:104046463G>A	ENST00000388887.2	+	12	1591	c.1387G>A	c.(1387-1389)Gaa>Aaa	p.E463K	RP11-341G23.2_ENST00000551905.1_RNA	NM_017564.9	NP_060034.9			stabilin 2											NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						AAAGTCGGGGGAAATCTTCAA	0.403																																						ENST00000388887.2																			0				NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						c.(1387-1389)Gaa>Aaa		stabilin 2							81	76	78					12																	104046463		2203	4300	6503	SO:0001583	missense	55576				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity	g.chr12:104046463G>A	AF160476	CCDS31888.1	12q23.3	2007-01-29				ENSG00000136011			18629	protein-coding gene	gene with protein product	"hyaluronic acid receptor for endocytosis"	608561				11829752, 12077138	Standard	XR_429107		Approved	DKFZP434E0321, FELL, STAB-2, HARE, FEEL-2	uc001tjw.3	Q8WWQ8	OTTHUMG00000170056	ENST00000388887.2:c.1387G>A	12.37:g.104046463G>A	ENSP00000373539:p.Glu463Lys						p.E463K	NM_017564.9	NP_060034.9	Q8WWQ8	STAB2_HUMAN			12	1591	+			463			FAS1 1.			Missense_Mutation	SNP	ENST00000388887.2	37	c.1387G>A	CCDS31888.1	.	.	.	.	.	.	.	.	.	.	G	11.52	1.662019	0.29515	.	.	ENSG00000136011	ENST00000388887	D	0.90504	-2.68	5.82	4.93	0.64822	FAS1 domain (5);	0.057780	0.64402	D	0.000003	D	0.84665	0.5522	L	0.41961	1.31	0.40657	D	0.982096	P	0.36974	0.576	B	0.30029	0.11	T	0.82678	-0.0338	10	0.19590	T	0.45	.	14.4096	0.67106	0.0712:0.0:0.9288:0.0	.	463	Q8WWQ8	STAB2_HUMAN	K	463	ENSP00000373539:E463K	ENSP00000373539:E463K	E	+	1	0	STAB2	102570593	1.000000	0.71417	0.999000	0.59377	0.150000	0.21749	5.178000	0.65037	1.462000	0.47948	0.655000	0.94253	GAA		0.403	STAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407089.1			13	35	0	0	0	1	0	13	35					A	104046463	G	A	104046463	3	1	327	1	0	0	0	0	1	0	0	0	15237	1175	41	3	1433	3	STAB2	12	104046463	Missense_Mutation	SNP	G	TCGA-KK-A7B0-01A-11D-A32B-08	47341423	104046463	29805432	29	16732											
ACTC1	70	broad.mit.edu	37	chr15	35087001	35087001	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agggcggtggtctcctcgtcGtcacacatcttggcacagct	6	10	12	13	3	3	0	1	0	2	0	6	0	3	0	1	4	1	2	1	4	0	1	rs535623090		TCGA-KK-A7B0-01A-11D-A32B-08	TCGA-KK-A7B0-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	379f2694-a7e1-4f6f-98c1-aabaa42f883c	b2e1507b-1fa5-4368-a706-2eee5e98d006	g.chr15:35087001G>A	ENST00000290378.4	-	2	664	c.9C>T	c.(7-9)gaC>gaT	p.D3D	ACTC1_ENST00000557860.1_5'Flank|RP11-814P5.1_ENST00000503496.1_RNA	NM_005159.4	NP_005150.1	P68032	ACTC_HUMAN	actin, alpha, cardiac muscle 1	3					actin filament-based movement (GO:0030048)|actin-myosin filament sliding (GO:0033275)|actomyosin structure organization (GO:0031032)|apoptotic process (GO:0006915)|ATP catabolic process (GO:0006200)|cardiac muscle contraction (GO:0060048)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|heart contraction (GO:0060047)|muscle filament sliding (GO:0030049)|negative regulation of apoptotic process (GO:0043066)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|skeletal muscle thin filament assembly (GO:0030240)	actin filament (GO:0005884)|actomyosin, actin portion (GO:0042643)|blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|I band (GO:0031674)|membrane (GO:0016020)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|myosin binding (GO:0017022)			central_nervous_system(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	31		all_lung(180;2.3e-08)		all cancers(64;5.83e-19)|GBM - Glioblastoma multiforme(113;1.98e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0244)		TCTCCTCGTCGTCACACATCT	0.667													G|||	1	0.000199681	0	0	5008	,	,		12996	0.001		0	False		,,,				2504	0					ENST00000290378.4																			0				central_nervous_system(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	31						c.(7-9)gaC>gaT		actin, alpha, cardiac muscle 1							77	81	80					15																	35087001		2201	4298	6499	SO:0001819	synonymous_variant	70				apoptosis|cardiac muscle tissue morphogenesis|cardiac myofibril assembly|muscle filament sliding|skeletal muscle thin filament assembly	actomyosin, actin part|cytosol|I band	ATP binding|ATPase activity|myosin binding	g.chr15:35087001G>A	BC009978	CCDS10041.1	15q14	2014-09-17	2006-08-24	2006-08-24	ENSG00000159251	ENSG00000159251			143	protein-coding gene	gene with protein product		102540	"actin, alpha, cardiac muscle"	ACTC		1639426	Standard	NM_005159		Approved	CMD1R	uc001ziu.1	P68032	OTTHUMG00000129675	ENST00000290378.4:c.9C>T	15.37:g.35087001G>A						RP11-814P5.1_ENST00000503496.1_RNA	p.D3D	NM_005159.4	NP_005150.1	P68032	ACTC_HUMAN		all cancers(64;5.83e-19)|GBM - Glioblastoma multiforme(113;1.98e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0244)	2	664	-		all_lung(180;2.3e-08)	3					P04270	Silent	SNP	ENST00000290378.4	37	c.9C>T	CCDS10041.1																																																																																				0.667	ACTC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251876.3	NM_005159		19	77	0	0	0	1	0	19	77					A	35087001	G	A	35087001	2	1	327	1	0	0	0	0	0	0	0	1	195	1136	40	1		1	ACTC1	15	35087001	Silent	SNP	G	TCGA-KK-A7B0-01A-11D-A32B-08		35087001	67444391	30	16733											
HDC	3067	broad.mit.edu	37	chr15	50545830	50545830	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctctgacaggcagtcaaatgCacagaccccagtggtcccta	11	7	9	14	0	2	2	1	1	1	1	3	2	3	2	3	2	1	2	3	2	2	1			TCGA-KK-A7B0-01A-11D-A32B-08	TCGA-KK-A7B0-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	379f2694-a7e1-4f6f-98c1-aabaa42f883c	b2e1507b-1fa5-4368-a706-2eee5e98d006	g.chr15:50545830C>A	ENST00000267845.3	-	7	1156	c.754G>T	c.(754-756)Gca>Tca	p.A252S	HDC_ENST00000543581.1_Missense_Mutation_p.A252S	NM_002112.3	NP_002103.2	Q9UBI9	HDC_HUMAN	histidine decarboxylase	0					respiratory tube development (GO:0030323)	membrane (GO:0016020)				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		all_lung(180;0.0138)		all cancers(107;1.12e-06)|GBM - Glioblastoma multiforme(94;9.95e-05)		CAGTCAAATGCACAGACCCCA	0.488																																					GBM(95;1627 1936 6910 9570)	ENST00000267845.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						c.(754-756)Gca>Tca		histidine decarboxylase	L-Histidine(DB00117)|Pyridoxal Phosphate(DB00114)						104	97	100					15																	50545830		2196	4295	6491	SO:0001583	missense	3067				catecholamine biosynthetic process|histidine metabolic process		histidine decarboxylase activity	g.chr15:50545830C>A		CCDS10134.1	15q21.2	2013-09-20			ENSG00000140287	ENSG00000140287	4.1.1.22		4855	protein-coding gene	gene with protein product		142704				1487235	Standard	NM_002112		Approved		uc001zxz.3	P19113	OTTHUMG00000131644	ENST00000267845.3:c.754G>T	15.37:g.50545830C>A	ENSP00000267845:p.Ala252Ser					HDC_ENST00000543581.1_Missense_Mutation_p.A252S	p.A252S	NM_002112.3	NP_002103.2	P19113	DCHS_HUMAN		all cancers(107;1.12e-06)|GBM - Glioblastoma multiforme(94;9.95e-05)	7	1156	-		all_lung(180;0.0138)	252						Missense_Mutation	SNP	ENST00000267845.3	37	c.754G>T	CCDS10134.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.983479	0.74474	.	.	ENSG00000140287	ENST00000267845;ENST00000543581	T;T	0.42131	0.98;0.98	5.18	5.18	0.71444	Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.055714	0.64402	D	0.000001	T	0.43211	0.1237	L	0.33753	1.03	0.51767	D	0.999934	P;P	0.47191	0.844;0.891	P;P	0.49276	0.487;0.605	T	0.08310	-1.0728	10	0.22109	T	0.4	-12.3227	18.8826	0.92362	0.0:1.0:0.0:0.0	.	252;252	B7ZM01;P19113	.;DCHS_HUMAN	S	252	ENSP00000267845:A252S;ENSP00000440252:A252S	ENSP00000267845:A252S	A	-	1	0	HDC	48333122	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.381000	0.59587	2.698000	0.92095	0.655000	0.94253	GCA		0.488	HDC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254540.1			11	63	1	0	7.03913e-09	1	8.37991e-09	11	63					A	50545830	C	A	50545830	3	1	327	1	0	0	0	0	1	0	0	0	7015	710	25	5	1258	5	HDC	15	50545830	Missense_Mutation	SNP	C	TCGA-KK-A7B0-01A-11D-A32B-08	15458829	50545830	51985562	31	16734											
GPR56	9289	broad.mit.edu	37	chr16	57685484	57685484	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtcacctcctggtggagccCtcagaacatcagcctgccca	8	8	9	16	0	3	1	3	0	0	1	4	2	4	2	5	2	4	0	5	2	1	0			TCGA-KK-A7B0-01A-11D-A32B-08	TCGA-KK-A7B0-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	379f2694-a7e1-4f6f-98c1-aabaa42f883c	b2e1507b-1fa5-4368-a706-2eee5e98d006	g.chr16:57685484C>T	ENST00000388812.4	+	3	877	c.437C>T	c.(436-438)cCt>cTt	p.P146L	GPR56_ENST00000456916.1_Missense_Mutation_p.P146L|GPR56_ENST00000568908.1_Missense_Mutation_p.P146L|GPR56_ENST00000540164.2_Missense_Mutation_p.P146L|GPR56_ENST00000538815.1_Missense_Mutation_p.P146L|GPR56_ENST00000562631.1_Missense_Mutation_p.P146L|GPR56_ENST00000567835.1_Missense_Mutation_p.P146L|GPR56_ENST00000562558.1_Missense_Mutation_p.P146L|GPR56_ENST00000568909.1_Missense_Mutation_p.P146L|GPR56_ENST00000379696.3_Missense_Mutation_p.P146L|GPR56_ENST00000544297.1_5'UTR|GPR56_ENST00000379694.4_Intron|GPR56_ENST00000388813.5_Missense_Mutation_p.P146L|GPR56_ENST00000564912.1_3'UTR			Q9Y653	GPR56_HUMAN	G protein-coupled receptor 56	146					angiogenesis (GO:0001525)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|cerebral cortex radial glia guided migration (GO:0021801)|G-protein coupled receptor signaling pathway (GO:0007186)|layer formation in cerebral cortex (GO:0021819)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron migration (GO:2001223)|neuropeptide signaling pathway (GO:0007218)|positive regulation of cell adhesion (GO:0045785)|positive regulation of Rho protein signal transduction (GO:0035025)|protein kinase C signaling (GO:0070528)|Rho protein signal transduction (GO:0007266)|vascular endothelial growth factor production (GO:0010573)	extracellular vesicular exosome (GO:0070062)|glial limiting end-foot (GO:0097451)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	collagen binding (GO:0005518)|extracellular matrix binding (GO:0050840)|G-protein coupled receptor activity (GO:0004930)			kidney(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)	15						TGGTGGAGCCCTCAGAACATC	0.607																																						ENST00000562631.1																			0				kidney(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)	15						c.(436-438)cCt>cTt		G protein-coupled receptor 56							40	42	41					16																	57685484		2198	4300	6498	SO:0001583	missense	0				brain development|cell adhesion|cell-cell signaling|neuropeptide signaling pathway	integral to plasma membrane	G-protein coupled receptor activity	g.chr16:57685484C>T	AJ011001	CCDS32460.1, CCDS32461.1, CCDS73893.1	16q13	2014-08-08				ENSG00000205336		"-", "GPCR / Class B : Orphans"	4512	protein-coding gene	gene with protein product		604110				10049584, 10100861	Standard	XM_005256237		Approved	TM7LN4, TM7XN1	uc002emb.2	Q9Y653		ENST00000388812.4:c.437C>T	16.37:g.57685484C>T	ENSP00000373464:p.Pro146Leu					GPR56_ENST00000567835.1_Missense_Mutation_p.P146L|GPR56_ENST00000564912.1_3'UTR|GPR56_ENST00000540164.2_Missense_Mutation_p.P146L|GPR56_ENST00000544297.1_5'UTR|GPR56_ENST00000379696.3_Missense_Mutation_p.P146L|GPR56_ENST00000379694.4_Intron|GPR56_ENST00000538815.1_Missense_Mutation_p.P146L|GPR56_ENST00000456916.1_Missense_Mutation_p.P146L|GPR56_ENST00000562558.1_Missense_Mutation_p.P146L|GPR56_ENST00000388812.4_Missense_Mutation_p.P146L|GPR56_ENST00000388813.5_Missense_Mutation_p.P146L|GPR56_ENST00000568909.1_Missense_Mutation_p.P146L|GPR56_ENST00000568908.1_Missense_Mutation_p.P146L	p.P146L			Q9Y653	GPR56_HUMAN			3	969	+			146					A6NIT7|A6NJV9|B0M0K4|B4DR54|O95966|Q6ZMP1|Q8NGB3|Q96HB4	Missense_Mutation	SNP	ENST00000388812.4	37	c.437C>T	CCDS32460.1	.	.	.	.	.	.	.	.	.	.	C	12.79	2.044300	0.36085	.	.	ENSG00000205336	ENST00000388813;ENST00000388812;ENST00000538815;ENST00000456916;ENST00000540164;ENST00000379696	T;T;T;T;T;T	0.45668	0.89;0.89;0.89;0.89;0.89;0.89	5.21	5.21	0.72293	.	0.231906	0.30723	N	0.009002	T	0.58018	0.2093	M	0.62723	1.935	0.34881	D	0.744565	D;D;D	0.76494	0.999;0.998;0.997	D;D;P	0.66351	0.922;0.943;0.879	T	0.70561	-0.4838	10	0.87932	D	0	.	11.4281	0.50022	0.1799:0.8201:0.0:0.0	.	151;146;146	B4DR54;Q9Y653-2;Q9Y653	.;.;GPR56_HUMAN	L	146	ENSP00000373465:P146L;ENSP00000373464:P146L;ENSP00000444415:P146L;ENSP00000398034:P146L;ENSP00000444911:P146L;ENSP00000369018:P146L	ENSP00000369018:P146L	P	+	2	0	GPR56	56242985	0.000000	0.05858	0.032000	0.17829	0.001000	0.01503	0.173000	0.16724	2.433000	0.82419	0.655000	0.94253	CCT		0.607	GPR56-203	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000433436.3			7	33	0	0	0	1	0	7	33					T	57685484	C	T	57685484	3	4	327	1	0	0	0	0	1	0	0	0	6700	681	24	3	458	3	GPR56	16	57685484	Missense_Mutation	SNP	C	TCGA-KK-A7B0-01A-11D-A32B-08		57685484	32669269	32	16735											
NFAT5	10725	broad.mit.edu	37	chr16	69727847	69727847	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acccccttgttccatagctcTcctcagattcagttggtaca	8	13	6	14	0	3	1	2	0	1	1	5	1	4	1	4	1	2	4	4	1	2	6			TCGA-KK-A7B0-01A-11D-A32B-08	TCGA-KK-A7B0-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	379f2694-a7e1-4f6f-98c1-aabaa42f883c	b2e1507b-1fa5-4368-a706-2eee5e98d006	g.chr16:69727847T>C	ENST00000354436.2	+	12	4383	c.4065T>C	c.(4063-4065)tcT>tcC	p.S1355S	NFAT5_ENST00000567239.1_Silent_p.S1372S|NFAT5_ENST00000393742.2_Silent_p.S1279S|NFAT5_ENST00000566899.1_Silent_p.S1279S|NFAT5_ENST00000432919.1_Silent_p.S1373S|NFAT5_ENST00000349945.1_Silent_p.S1279S	NM_006599.3	NP_006590.1	O94916	NFAT5_HUMAN	nuclear factor of activated T-cells 5, tonicity-responsive	1355					cytokine production (GO:0001816)|excretion (GO:0007588)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of calcineurin-NFAT signaling cascade (GO:0070884)|signal transduction (GO:0007165)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						TCCATAGCTCTCCTCAGATTC	0.483																																						ENST00000349945.1																			0				NS(1)|breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						c.(3835-3837)tcT>tcC		nuclear factor of activated T-cells 5, tonicity-responsive							121	100	107					16																	69727847		2198	4300	6498	SO:0001819	synonymous_variant	10725				excretion|signal transduction|transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr16:69727847T>C	AF134870	CCDS10881.1, CCDS10882.1, CCDS45519.1	16q22.1	2009-11-24			ENSG00000102908	ENSG00000102908		"Nuclear factor of activated T-cells"	7774	protein-coding gene	gene with protein product		604708				10377394	Standard	NM_173214		Approved	TONEBP, KIAA0827, NFATL1, OREBP, NFATZ, NF-AT5	uc002exl.2	O94916	OTTHUMG00000137572	ENST00000354436.2:c.4065T>C	16.37:g.69727847T>C						NFAT5_ENST00000393742.2_Silent_p.S1279S|NFAT5_ENST00000567239.1_Silent_p.S1372S|NFAT5_ENST00000566899.1_Silent_p.S1279S|NFAT5_ENST00000432919.1_Silent_p.S1373S|NFAT5_ENST00000354436.2_Silent_p.S1355S	p.S1279S	NM_138714.3	NP_619728.2	O94916	NFAT5_HUMAN			14	5389	+			1355					A2RRB4|A6H8V5|E9PHR7|O95693|Q7LA65|Q969Q8|Q96QH3|Q9UN18	Silent	SNP	ENST00000354436.2	37	c.3837T>C	CCDS10881.1																																																																																				0.483	NFAT5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000268952.2	NM_138714		8	71	0	0	0	1	0	8	71					C	69727847	T	C	69727847	2	2	327	1	0	0	0	0	0	0	0	1	10360	1538	54	4		4	NFAT5	16	69727847	Silent	SNP	T	TCGA-KK-A7B0-01A-11D-A32B-08	12042363	69727847	20626906	33	16736											
KRTAP1-5	83895	broad.mit.edu	37	chr17	39183291	39183291	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccgcagaagctagtctggcaGctgcgtggctggcagcagct	7	7	15	12	2	1	1	0	0	1	1	1	1	1	1	1	3	5	8	1	3	2	1			TCGA-KK-A7B0-01A-11D-A32B-08	TCGA-KK-A7B0-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	379f2694-a7e1-4f6f-98c1-aabaa42f883c	b2e1507b-1fa5-4368-a706-2eee5e98d006	g.chr17:39183291G>C	ENST00000361883.5	-	1	163	c.117C>G	c.(115-117)agC>agG	p.S39R		NM_031957.1	NP_114163.1	Q9BYS1	KRA15_HUMAN	keratin associated protein 1-5	39	15 X 5 AA repeats of C-C-[QEPVRC]- [TPIVLE]-[SRHVP].					keratin filament (GO:0045095)				central_nervous_system(1)|endometrium(2)|kidney(1)|lung(9)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	17		Breast(137;0.00043)	STAD - Stomach adenocarcinoma(17;0.000371)			TAGTCTGGCAGCTGCGTGGCT	0.612																																						ENST00000361883.5																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|lung(9)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	17						c.(115-117)agC>agG		keratin associated protein 1-5							43	49	47					17																	39183291		1997	4185	6182	SO:0001583	missense	83895					keratin filament		g.chr17:39183291G>C	AJ406928	CCDS42321.1	17q21.2	2013-06-25			ENSG00000221852	ENSG00000221852		"Keratin associated proteins"	16777	protein-coding gene	gene with protein product		608822				11279113	Standard	NM_031957		Approved	KAP1.5	uc002hvu.3	Q9BYS1	OTTHUMG00000133587	ENST00000361883.5:c.117C>G	17.37:g.39183291G>C	ENSP00000355302:p.Ser39Arg						p.S39R	NM_031957.1	NP_114163.1	Q9BYS1	KRA15_HUMAN	STAD - Stomach adenocarcinoma(17;0.000371)		1	163	-		Breast(137;0.00043)	39			15 X 5 AA repeats of C-C-[QEPVRC]- [TPIVLE]-[SRHVP].		A6NJW6|A6NLZ6|B6ZDR1|Q52LP6	Missense_Mutation	SNP	ENST00000361883.5	37	c.117C>G	CCDS42321.1	.	.	.	.	.	.	.	.	.	.	G	0.744	-0.775391	0.02951	.	.	ENSG00000221852	ENST00000361883;ENST00000543389	T	0.34667	1.35	1.0	-0.0605	0.13788	.	.	.	.	.	T	0.16896	0.0406	N	0.08118	0	0.09310	N	1	B	0.26400	0.148	B	0.23419	0.046	T	0.20605	-1.0270	9	0.87932	D	0	.	4.9576	0.14050	0.246:0.0:0.754:0.0	.	39	Q9BYS1	KRA15_HUMAN	R	39	ENSP00000355302:S39R	ENSP00000355302:S39R	S	-	3	2	KRTAP1-5	36436817	0.001000	0.12720	0.002000	0.10522	0.127000	0.20565	0.009000	0.13219	-0.022000	0.13986	0.313000	0.20887	AGC		0.612	KRTAP1-5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257691.1			8	43	0	0	0	1	0	8	43					C	39183291	G	C	39183291	3	2	327	1	0	0	0	0	1	0	0	0	8504	962	34	5	411	5	KRTAP1-5	17	39183291	Missense_Mutation	SNP	G	TCGA-KK-A7B0-01A-11D-A32B-08		39183291	42011919	34	16737											
SPOP	8405	broad.mit.edu	37	chr17	47696643	47696643	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cattcaggatggagaatttgAattttgcccgaacttcactc	11	13	8	9	1	2	2	2	1	0	1	3	5	2	3	1	2	2	0	1	2	3	5	rs193920894		TCGA-KK-A7B0-01A-11D-A32B-08	TCGA-KK-A7B0-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	379f2694-a7e1-4f6f-98c1-aabaa42f883c	b2e1507b-1fa5-4368-a706-2eee5e98d006	g.chr17:47696643A>G	ENST00000393328.2	-	5	670	c.305T>C	c.(304-306)tTc>tCc	p.F102S	SPOP_ENST00000503676.1_Missense_Mutation_p.F102S|SPOP_ENST00000393331.3_Missense_Mutation_p.F102S|SPOP_ENST00000504102.1_Missense_Mutation_p.F102S|SPOP_ENST00000347630.2_Missense_Mutation_p.F102S|SPOP_ENST00000513080.1_5'Flank	NM_003563.3	NP_003554.1	O43791	SPOP_HUMAN	speckle-type POZ protein	102	MATH. {ECO:0000255|PROSITE- ProRule:PRU00129}.|Required for nuclear localization.				glucose homeostasis (GO:0042593)|positive regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902237)|positive regulation of type B pancreatic cell apoptotic process (GO:2000676)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	Cul3-RING ubiquitin ligase complex (GO:0031463)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	ubiquitin protein ligase binding (GO:0031625)	p.F102C(2)		endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						GGAGAATTTGAATTTTGCCCG	0.408										Prostate(2;0.17)																												ENST00000393331.3																			2	Substitution - Missense(2)	p.F102C(2)	prostate(2)	endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						c.(304-306)tTc>tCc		speckle-type POZ protein							147	136	140					17																	47696643		2203	4300	6503	SO:0001583	missense	8405				mRNA processing	nucleus	protein binding	g.chr17:47696643A>G	AJ000644	CCDS11551.1	17q21.33	2013-01-09			ENSG00000121067	ENSG00000121067		"BTB/POZ domain containing"	11254	protein-coding gene	gene with protein product		602650				9414087	Standard	NM_001007227		Approved	TEF2, BTBD32	uc002ipg.3	O43791	OTTHUMG00000161496	ENST00000393328.2:c.305T>C	17.37:g.47696643A>G	ENSP00000377001:p.Phe102Ser	Prostate(2;0.17)				SPOP_ENST00000504102.1_Missense_Mutation_p.F102S|SPOP_ENST00000503676.1_Missense_Mutation_p.F102S|SPOP_ENST00000393328.2_Missense_Mutation_p.F102S|SPOP_ENST00000347630.2_Missense_Mutation_p.F102S	p.F102S	NM_001007226.1|NM_001007227.1	NP_001007227.1|NP_001007228.1	O43791	SPOP_HUMAN			6	775	-			102			MATH.|Required for nuclear localization.		B2R6S3|D3DTW7|Q53HJ1	Missense_Mutation	SNP	ENST00000393328.2	37	c.305T>C	CCDS11551.1	.	.	.	.	.	.	.	.	.	.	A	26.1	4.706704	0.89018	.	.	ENSG00000121067	ENST00000393328;ENST00000393331;ENST00000347630;ENST00000504102;ENST00000503676;ENST00000513872;ENST00000509079;ENST00000505581;ENST00000507970;ENST00000514121;ENST00000515508	T;T;T;T;T;T;T;T;T;T	0.68765	-0.35;-0.35;-0.35;-0.35;-0.35;-0.35;-0.35;-0.35;-0.35;-0.35	5.52	5.52	0.82312	TRAF-type (1);TRAF-like (1);MATH (3);	0.000000	0.85682	D	0.000000	D	0.83445	0.5256	M	0.85462	2.755	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.86271	0.1661	10	0.87932	D	0	-11.8278	15.4649	0.75390	1.0:0.0:0.0:0.0	.	102	O43791	SPOP_HUMAN	S	102;102;102;102;102;55;102;102;102;102;102	ENSP00000377001:F102S;ENSP00000377004:F102S;ENSP00000240327:F102S;ENSP00000425905:F102S;ENSP00000420908:F102S;ENSP00000426986:F102S;ENSP00000420960:F102S;ENSP00000426262:F102S;ENSP00000424119:F102S;ENSP00000426537:F102S	ENSP00000240327:F102S	F	-	2	0	SPOP	45051642	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.135000	0.94478	2.317000	0.78254	0.460000	0.39030	TTC		0.408	SPOP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365154.2	NM_003563		11	69	0	0	0	1	0	11	69					G	47696643	A	G	47696643	3	3	327	1	0	0	0	0	1	0	0	0	15083	246	9	4	847	4	SPOP	17	47696643	Missense_Mutation	SNP	A	TCGA-KK-A7B0-01A-11D-A32B-08	8513352	47696643	33498567	35	16738											
CCDC40	55036	broad.mit.edu	37	chr17	78022497	78022497	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atggcagagagagtggagtcCgaggggagtgacgaggaagc	12	4	20	5	2	0	3	0	1	0	2	1	9	1	6	1	5	1	1	1	5	1	0			TCGA-KK-A7B0-01A-11D-A32B-08	TCGA-KK-A7B0-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	379f2694-a7e1-4f6f-98c1-aabaa42f883c	b2e1507b-1fa5-4368-a706-2eee5e98d006	g.chr17:78022497C>A	ENST00000397545.4	+	5	819	c.792C>A	c.(790-792)tcC>tcA	p.S264S	CCDC40_ENST00000374877.3_Silent_p.S264S|CCDC40_ENST00000374876.4_Silent_p.S264S|CCDC40_ENST00000269318.5_Silent_p.S264S	NM_017950.3	NP_060420.2	Q4G0X9	CCD40_HUMAN	coiled-coil domain containing 40	264					axonemal dynein complex assembly (GO:0070286)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of liver left/right asymmetry (GO:0071910)|determination of pancreatic left/right asymmetry (GO:0035469)|epithelial cilium movement (GO:0003351)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|heart looping (GO:0001947)|lung development (GO:0030324)|regulation of cilium beat frequency (GO:0003356)	cilium (GO:0005929)|cytoplasm (GO:0005737)				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(7)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	38	all_neural(118;0.167)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149)			GAGTGGAGTCCGAGGGGAGTG	0.607																																						ENST00000397545.4																			0				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(7)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	38						c.(790-792)tcC>tcA		coiled-coil domain containing 40							80	104	96					17																	78022497		2045	4181	6226	SO:0001819	synonymous_variant	55036				axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium|cytoplasm		g.chr17:78022497C>A	AB046860	CCDS42395.1, CCDS58604.1	17q25.3	2013-11-15			ENSG00000141519	ENSG00000141519			26090	protein-coding gene	gene with protein product		613799				21131974	Standard	NM_017950		Approved	FLJ20753, KIAA1640, FLJ32021, CILD15, FAP172	uc010dht.3	Q4G0X9	OTTHUMG00000132707	ENST00000397545.4:c.792C>A	17.37:g.78022497C>A						CCDC40_ENST00000269318.5_Silent_p.S264S|CCDC40_ENST00000374877.3_Silent_p.S264S|CCDC40_ENST00000374876.4_Silent_p.S264S	p.S264S	NM_017950.3	NP_060420.2	Q4G0X9	CCD40_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149)		5	819	+	all_neural(118;0.167)		264					A8MTD2|C9JTI9|C9JTJ0|C9JXW1|Q6PE47|Q9HCD2|Q9NWL5	Silent	SNP	ENST00000397545.4	37	c.792C>A	CCDS42395.1																																																																																				0.607	CCDC40-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256005.2	XM_371082		6	27	1	0	0.0215528	1	0.0215528	6	27					A	78022497	C	A	78022497	2	1	327	1	0	0	0	0	0	0	0	1	2812	639	23	5		5	CCDC40	17	78022497	Silent	SNP	C	TCGA-KK-A7B0-01A-11D-A32B-08	30325854	78022497	3172713	36	16739											
XAB2	56949	broad.mit.edu	37	chr19	7684907	7684907	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgccagctgctctgcccgcTgttccagcagcttcatgtcg	4	10	10	17	3	2	0	1	0	1	0	4	0	3	0	4	0	5	6	4	0	0	2			TCGA-KK-A7B0-01A-11D-A32B-08	TCGA-KK-A7B0-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	379f2694-a7e1-4f6f-98c1-aabaa42f883c	b2e1507b-1fa5-4368-a706-2eee5e98d006	g.chr19:7684907T>G	ENST00000358368.4	-	17	2358	c.2321A>C	c.(2320-2322)cAg>cCg	p.Q774P	XAB2_ENST00000534844.1_Missense_Mutation_p.Q771P	NM_020196.2	NP_064581.2	Q9HCS7	SYF1_HUMAN	XPA binding protein 2	774					blastocyst development (GO:0001824)|DNA repair (GO:0006281)|mRNA splicing, via spliceosome (GO:0000398)|nucleotide-excision repair (GO:0006289)|transcription, DNA-templated (GO:0006351)|transcription-coupled nucleotide-excision repair (GO:0006283)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				breast(1)|central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	26						CTCTGCCCGCTGTTCCAGCAG	0.687								Direct reversal of damage;Nucleotide excision repair (NER)																														ENST00000358368.4																			0				breast(1)|central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	26						c.(2320-2322)cAg>cCg	Direct reversal of damage;Nucleotide excision repair (NER)	XPA binding protein 2							27	27	27					19																	7684907		2201	4288	6489	SO:0001583	missense	56949				transcription, DNA-dependent|transcription-coupled nucleotide-excision repair	catalytic step 2 spliceosome|nucleoplasm	protein binding	g.chr19:7684907T>G	AB026111	CCDS32892.1	19p13.3	2013-08-21				ENSG00000076924			14089	protein-coding gene	gene with protein product	"SYF1 homolog, RNA splicing factor (S. cerevisiae)", "SYF1 pre-mRNA-splicing factor"	610850				10944529	Standard	NM_020196		Approved	HCNP, HCRN, SYF1, NTC90	uc002mgx.3	Q9HCS7		ENST00000358368.4:c.2321A>C	19.37:g.7684907T>G	ENSP00000351137:p.Gln774Pro					XAB2_ENST00000534844.1_Missense_Mutation_p.Q771P	p.Q774P	NM_020196.2	NP_064581.2	Q9HCS7	SYF1_HUMAN			17	2358	-			774					Q8TET6|Q96HB0|Q96IW0|Q9NRG6|Q9ULP3	Missense_Mutation	SNP	ENST00000358368.4	37	c.2321A>C	CCDS32892.1	.	.	.	.	.	.	.	.	.	.	T	8.979	0.974881	0.18736	.	.	ENSG00000076924	ENST00000358368;ENST00000534844	T;T	0.23552	1.9;1.9	4.67	4.67	0.58626	.	0.072360	0.56097	D	0.000025	T	0.22898	0.0553	L	0.39898	1.24	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.03545	-1.1026	10	0.56958	D	0.05	-35.2876	13.0922	0.59172	0.0:0.0:0.0:1.0	.	774	Q9HCS7	SYF1_HUMAN	P	774;771	ENSP00000351137:Q774P;ENSP00000438225:Q771P	ENSP00000351137:Q774P	Q	-	2	0	XAB2	7590907	1.000000	0.71417	0.993000	0.49108	0.090000	0.18270	5.546000	0.67243	1.750000	0.51863	0.254000	0.18369	CAG		0.687	XAB2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000461021.1	NM_020196		3	24	0	0	0	1	0	3	24					G	7684907	T	G	7684907	3	3	327	1	0	0	0	0	1	0	0	0	17415	1580	55	5	258	5	XAB2	19	7684907	Missense_Mutation	SNP	T	TCGA-KK-A7B0-01A-11D-A32B-08		7684907	51444076	37	16740											
CD79A	973	broad.mit.edu	37	chr19	42383300	42383300	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgggggcatatacgtgtgccGggtccaggagggcaacgagt	8	7	18	8	3	0	0	0	0	0	0	1	2	1	1	2	5	3	2	2	5	3	2	rs143511203		TCGA-KK-A7B0-01A-11D-A32B-08	TCGA-KK-A7B0-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	379f2694-a7e1-4f6f-98c1-aabaa42f883c	b2e1507b-1fa5-4368-a706-2eee5e98d006	g.chr19:42383300G>A	ENST00000221972.3	+	2	505	c.320G>A	c.(319-321)cGg>cAg	p.R107Q	CD79A_ENST00000444740.2_Intron	NM_001783.3|NM_021601.3	NP_001774.1|NP_067612.1	P11912	CD79A_HUMAN	CD79a molecule, immunoglobulin-associated alpha	107	Ig-like C2-type.				B cell activation (GO:0042113)|B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|B cell receptor signaling pathway (GO:0050853)	B cell receptor complex (GO:0019815)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|multivesicular body (GO:0005771)|plasma membrane (GO:0005886)	transmembrane signaling receptor activity (GO:0004888)			large_intestine(3)|lung(3)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	11						TACGTGTGCCGGGTCCAGGAG	0.642			"O, S"		DLBCL																																	ENST00000221972.3				Dom	yes		19	19q13.2	973	"O, S"	"CD79a molecule, immunoglobulin-associated alpha"			L			DLBCL		0				large_intestine(3)|lung(3)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	11						c.(319-321)cGg>cAg		CD79a molecule, immunoglobulin-associated alpha		G	GLN/ARG,	1,4405	2.1+/-5.4	0,1,2202	68	60	63		320,	-4.5	0	19	dbSNP_134	63	0,8600		0,0,4300	no	missense,intron	CD79A	NM_001783.3,NM_021601.3	43,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign,	107/227,	42383300	1,13005	2203	4300	6503	SO:0001583	missense	0				B cell differentiation|B cell proliferation|B cell receptor signaling pathway	B cell receptor complex|external side of plasma membrane|integral to membrane|membrane raft|multivesicular body	transmembrane receptor activity	g.chr19:42383300G>A	M80462	CCDS12589.1, CCDS46088.1	19q13.2	2014-09-17	2006-03-28					"CD molecules", "Immunoglobulin superfamily / V-set domain containing"	1698	protein-coding gene	gene with protein product		112205	"CD79A antigen (immunoglobulin-associated alpha)"	IGA		1538135	Standard	NM_001783		Approved	MB-1	uc002orv.3	P11912		ENST00000221972.3:c.320G>A	19.37:g.42383300G>A	ENSP00000221972:p.Arg107Gln					CD79A_ENST00000444740.2_Intron	p.R107Q	NM_001783.3|NM_021601.3	NP_001774.1|NP_067612.1	P11912	CD79A_HUMAN			2	505	+			107			Ig-like C2-type.		A0N775|Q53FB8	Missense_Mutation	SNP	ENST00000221972.3	37	c.320G>A	CCDS12589.1	.	.	.	.	.	.	.	.	.	.	G	6.150	0.395901	0.11638	2.27E-4	0.0	ENSG00000105369	ENST00000221972	T	0.64085	-0.08	5.06	-4.5	0.03493	Immunoglobulin V-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	1.535120	0.03912	N	0.282039	T	0.28863	0.0716	N	0.01209	-0.955	0.09310	N	1	B	0.20671	0.047	B	0.15484	0.013	T	0.48115	-0.9063	10	0.02654	T	1	-0.8828	12.8256	0.57718	0.7913:0.0:0.2087:0.0	.	107	P11912	CD79A_HUMAN	Q	107	ENSP00000221972:R107Q	ENSP00000221972:R107Q	R	+	2	0	CD79A	47075140	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-0.704000	0.05058	-0.703000	0.05049	-0.145000	0.13849	CGG		0.642	CD79A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463058.1			6	33	0	0	0	1	0	6	33					A	42383300	G	A	42383300	3	1	327	1	0	0	0	0	1	0	0	0	3036	1116	39	2	326	2	CD79A	19	42383300	Missense_Mutation	SNP	G	TCGA-KK-A7B0-01A-11D-A32B-08	34698393	42383300	16745683	38	16741											
OTUD3	23252	broad.mit.edu	37	chr1	20220960	20220960	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	agtgattcatcaacttaatgCccctttgtggcaggtaggtc	9	13	10	9	0	2	1	2	1	0	0	3	1	2	1	2	3	2	2	2	3	3	4			TCGA-KK-A7B1-01A-11D-A32B-08	TCGA-KK-A7B1-11A-12D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c866d486-7422-4b92-89e2-f77933384d64	d47e6a60-b436-4ee5-b201-819ac01c600b	g.chr1:20220960C>T	ENST00000375120.3	+	3	471	c.470C>T	c.(469-471)gCc>gTc	p.A157V	OTUD3_ENST00000466697.1_3'UTR	NM_015207.1	NP_056022.1	Q5T2D3	OTUD3_HUMAN	OTU deubiquitinase 3	157	OTU. {ECO:0000255|PROSITE- ProRule:PRU00139}.				protein K11-linked deubiquitination (GO:0035871)|protein K6-linked deubiquitination (GO:0044313)		ubiquitin-specific protease activity (GO:0004843)			breast(1)|kidney(2)|large_intestine(4)|lung(1)|skin(1)	9		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000276)|Lung NSC(340;0.000338)|Breast(348;0.000812)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|COAD - Colon adenocarcinoma(152;1.12e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000142)|Kidney(64;0.000177)|GBM - Glioblastoma multiforme(114;0.000408)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		CAACTTAATGCCCCTTTGTGG	0.418																																						ENST00000375120.3																			0				breast(1)|kidney(2)|large_intestine(4)|lung(1)|skin(1)	9						c.(469-471)gCc>gTc		OTU domain containing 3							135	127	130					1																	20220960		1868	4107	5975	SO:0001583	missense	23252							g.chr1:20220960C>T	AB007928	CCDS41279.1	1p36.13	2014-02-24	2014-02-24		ENSG00000169914	ENSG00000169914		"OTU domain containing"	29038	protein-coding gene	gene with protein product		611758	"OTU domain containing 3"			9455484, 23827681	Standard	NM_015207		Approved	KIAA0459, DUBA4	uc001bcs.4	Q5T2D3	OTTHUMG00000002696	ENST00000375120.3:c.470C>T	1.37:g.20220960C>T	ENSP00000364261:p.Ala157Val					OTUD3_ENST00000466697.1_3'UTR	p.A157V	NM_015207.1	NP_056022.1	Q5T2D3	OTUD3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|COAD - Colon adenocarcinoma(152;1.12e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000142)|Kidney(64;0.000177)|GBM - Glioblastoma multiforme(114;0.000408)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	3	471	+		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000276)|Lung NSC(340;0.000338)|Breast(348;0.000812)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)	157			OTU.		O75047	Missense_Mutation	SNP	ENST00000375120.3	37	c.470C>T	CCDS41279.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.042099	0.75732	.	.	ENSG00000169914	ENST00000375120	T	0.43294	0.95	5.92	5.92	0.95590	Ovarian tumour, otubain (2);	0.195144	0.53938	D	0.000041	T	0.46600	0.1401	L	0.59436	1.845	0.45005	D	0.998023	P	0.47191	0.891	P	0.47346	0.544	T	0.27938	-1.0059	10	0.31617	T	0.26	.	13.8063	0.63233	0.1531:0.8468:0.0:0.0	.	157	Q5T2D3	OTUD3_HUMAN	V	157	ENSP00000364261:A157V	ENSP00000364261:A157V	A	+	2	0	OTUD3	20093547	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.941000	0.56607	2.804000	0.96469	0.655000	0.94253	GCC		0.418	OTUD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007655.1			3	47	0	0	0	1	0	3	47					T	20220960	C	T	20220960	3	4	328	1	0	0	0	0	1	0	0	0	11313	739	26	3	480	3	OTUD3	1	20220960	Missense_Mutation	SNP	C	TCGA-KK-A7B1-01A-11D-A32B-08		20220960	229029661	1	16742											
MACF1	23499	broad.mit.edu	37	chr1	39750842	39750842	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggggaaagctcatcatagagAtgctggaacgagagaaatca	16	6	13	6	1	3	2	3	0	0	2	3	7	3	4	0	3	3	2	0	3	4	1			TCGA-KK-A7B1-01A-11D-A32B-08	TCGA-KK-A7B1-11A-12D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c866d486-7422-4b92-89e2-f77933384d64	d47e6a60-b436-4ee5-b201-819ac01c600b	g.chr1:39750842A>T	ENST00000372915.3	+	11	1321	c.1234A>T	c.(1234-1236)Atg>Ttg	p.M412L	MACF1_ENST00000545844.1_Missense_Mutation_p.M412L|MACF1_ENST00000539005.1_Missense_Mutation_p.M412L|MACF1_ENST00000567887.1_Missense_Mutation_p.M444L|MACF1_ENST00000361689.2_Missense_Mutation_p.M412L|MACF1_ENST00000317713.7_Missense_Mutation_p.M412L|MACF1_ENST00000564288.1_Missense_Mutation_p.M407L			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	412					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			CATCATAGAGATGCTGGAACG	0.473																																						ENST00000564288.1																			0				breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203						c.(1219-1221)Atg>Ttg		microtubule-actin crosslinking factor 1							157	154	155					1																	39750842		2203	4300	6503	SO:0001583	missense	23499				cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding	g.chr1:39750842A>T	AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"EF-hand domain containing"	13664	protein-coding gene	gene with protein product	"actin cross-linking factor", "620 kDa actin binding protein", "macrophin 1", "trabeculin-alpha", "actin cross-linking family protein 7"	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.1234A>T	1.37:g.39750842A>T	ENSP00000362006:p.Met412Leu					MACF1_ENST00000372915.3_Missense_Mutation_p.M412L|MACF1_ENST00000539005.1_Missense_Mutation_p.M412L|MACF1_ENST00000545844.1_Missense_Mutation_p.M412L|MACF1_ENST00000361689.2_Missense_Mutation_p.M412L|MACF1_ENST00000567887.1_Missense_Mutation_p.M444L|MACF1_ENST00000317713.7_Missense_Mutation_p.M412L	p.M407L			Q9UPN3	MACF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)		12	1996	+	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	412					B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Missense_Mutation	SNP	ENST00000372915.3	37	c.1219A>T		.	.	.	.	.	.	.	.	.	.	A	19.05	3.751208	0.69533	.	.	ENSG00000127603	ENST00000545844;ENST00000372915;ENST00000361689;ENST00000317713;ENST00000539005;ENST00000524432;ENST00000530262;ENST00000372900	T;T;T;T;T;T;T	0.66099	-0.19;-0.19;-0.19;-0.19;-0.19;-0.19;-0.19	5.82	5.82	0.92795	.	.	.	.	.	T	0.64571	0.2610	M	0.80422	2.495	0.80722	D	1	B;B	0.28880	0.001;0.226	B;B	0.29524	0.001;0.103	T	0.62450	-0.6852	9	0.17832	T	0.49	.	16.1814	0.81903	1.0:0.0:0.0:0.0	.	412;377	F8W8Q1;Q9UPN3-3	.;.	L	412;412;412;412;412;370;561;572	ENSP00000439537:M412L;ENSP00000362006:M412L;ENSP00000354573:M412L;ENSP00000313438:M412L;ENSP00000444364:M412L;ENSP00000435070:M370L;ENSP00000437059:M561L	ENSP00000313438:M412L	M	+	1	0	MACF1	39523429	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.339000	0.96797	2.234000	0.73211	0.533000	0.62120	ATG		0.473	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1	NM_033044		26	82	0	0	0	1	0	26	82					T	39750842	A	T	39750842	3	4	328	1	0	0	0	0	1	0	0	0	9144	333	12	5	1276	5	MACF1	1	39750842	Missense_Mutation	SNP	A	TCGA-KK-A7B1-01A-11D-A32B-08	19529882	39750842	209499779	2	16743											
USP33	23032	broad.mit.edu	37	chr1	78187835	78187835	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tagcaaggtcttccttgccaGgaattggcaaggacagatct	11	10	11	9	0	2	1	0	0	2	1	3	3	3	3	2	4	2	2	2	4	4	4			TCGA-KK-A7B1-01A-11D-A32B-08	TCGA-KK-A7B1-11A-12D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c866d486-7422-4b92-89e2-f77933384d64	d47e6a60-b436-4ee5-b201-819ac01c600b	g.chr1:78187835G>T	ENST00000370793.1	-	14	1875	c.1529C>A	c.(1528-1530)cCt>cAt	p.P510H	USP33_ENST00000357428.1_Missense_Mutation_p.P510H|USP33_ENST00000370794.3_Missense_Mutation_p.P479H|USP33_ENST00000370792.3_Missense_Mutation_p.P510H	NM_015017.4	NP_055832.3	Q8TEY7	UBP33_HUMAN	ubiquitin specific peptidase 33	510	USP.				axon guidance (GO:0007411)|cell migration (GO:0016477)|centrosome duplication (GO:0051298)|endocytosis (GO:0006897)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|ubiquitin-dependent protein catabolic process (GO:0006511)	cell body (GO:0044297)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|VCB complex (GO:0030891)	cysteine-type endopeptidase activity (GO:0004197)|G-protein coupled receptor binding (GO:0001664)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|prostate(2)|urinary_tract(1)	44						TTCCTTGCCAGGAATTGGCAA	0.408																																					Melanoma(152;72 1870 11110 26780 42647)	ENST00000370793.1																			0				breast(1)|central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|prostate(2)|urinary_tract(1)	44						c.(1528-1530)cCt>cAt		ubiquitin specific peptidase 33							103	100	101					1																	78187835		2203	4300	6503	SO:0001583	missense	23032				axon guidance|cell migration|endocytosis|protein K48-linked deubiquitination|protein K63-linked deubiquitination|regulation of G-protein coupled receptor protein signaling pathway|ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm|VCB complex	cysteine-type endopeptidase activity|G-protein-coupled receptor binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding	g.chr1:78187835G>T	AF383173	CCDS678.1, CCDS679.1, CCDS680.1	1p31	2008-02-05	2005-08-08		ENSG00000077254	ENSG00000077254		"Ubiquitin-specific peptidases"	20059	protein-coding gene	gene with protein product		615146	"ubiquitin specific protease 33"			12838346	Standard	NM_015017		Approved	KIAA1097, VDU1	uc001dht.4	Q8TEY7	OTTHUMG00000009651	ENST00000370793.1:c.1529C>A	1.37:g.78187835G>T	ENSP00000359829:p.Pro510His					USP33_ENST00000370792.3_Missense_Mutation_p.P510H|USP33_ENST00000370794.3_Missense_Mutation_p.P479H|USP33_ENST00000357428.1_Missense_Mutation_p.P510H	p.P510H	NM_015017.4	NP_055832.3	Q8TEY7	UBP33_HUMAN			14	1875	-			510					Q8TEY6|Q96AV6|Q9H9F0|Q9UPQ5	Missense_Mutation	SNP	ENST00000370793.1	37	c.1529C>A	CCDS678.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	24.5|24.5	4.538009|4.538009	0.85917|0.85917	.|.	.|.	ENSG00000077254|ENSG00000077254	ENST00000481579|ENST00000370794;ENST00000370793;ENST00000357428;ENST00000370792	.|T;T;T;T	.|0.38077	.|3.85;1.16;1.16;3.85	5.0|5.0	5.0|5.0	0.66597|0.66597	.|Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.55784|0.55784	0.1942|0.1942	M|M	0.75447|0.75447	2.3|2.3	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|1.0;1.0;1.0	.|D;D;D	.|0.91635	.|0.998;0.998;0.999	T|T	0.59958|0.59958	-0.7356|-0.7356	5|10	.|0.62326	.|D	.|0.03	.|.	18.6877|18.6877	0.91571|0.91571	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|510;479;510	.|Q8TEY7-3;Q8TEY7-2;Q8TEY7	.|.;.;UBP33_HUMAN	M|H	115|479;510;510;510	.|ENSP00000359830:P479H;ENSP00000359829:P510H;ENSP00000350009:P510H;ENSP00000359828:P510H	.|ENSP00000350009:P510H	L|P	-|-	1|2	2|0	USP33|USP33	77960423|77960423	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	9.476000|9.476000	0.97823|0.97823	2.494000|2.494000	0.84150|0.84150	0.467000|0.467000	0.42956|0.42956	CTG|CCT		0.408	USP33-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000026923.2	NM_015017		6	92	1	0	5.9392e-07	1	6.496e-07	6	92					T	78187835	G	T	78187835	3	4	328	1	0	0	0	0	1	0	0	0	17061	1000	35	5	1359	5	USP33	1	78187835	Missense_Mutation	SNP	G	TCGA-KK-A7B1-01A-11D-A32B-08	38436993	78187835	171062786	3	16744											
ALK	238	broad.mit.edu	37	chr2	29498076	29498076	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggtgctgtattctgcaggaTcttgtcctctccgctaactg	5	14	11	11	1	3	0	0	0	3	0	5	1	4	1	2	2	3	4	2	2	2	4			TCGA-KK-A7B1-01A-11D-A32B-08	TCGA-KK-A7B1-11A-12D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c866d486-7422-4b92-89e2-f77933384d64	d47e6a60-b436-4ee5-b201-819ac01c600b	g.chr2:29498076T>C	ENST00000389048.3	-	11	2836	c.1930A>G	c.(1930-1932)Atc>Gtc	p.I644V	ALK_ENST00000431873.1_Intron	NM_004304.4	NP_004295.2	Q9UM73	ALK_HUMAN	anaplastic lymphoma receptor tyrosine kinase	644					activation of MAPK activity (GO:0000187)|cell proliferation (GO:0008283)|neuron development (GO:0048666)|NIK/NF-kappaB signaling (GO:0038061)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein autophosphorylation (GO:0046777)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|protein complex (GO:0043234)	ATP binding (GO:0005524)|NF-kappaB-inducing kinase activity (GO:0004704)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)		ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9)	NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2)	340	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)|Crizotinib(DB08865)	TTCTGCAGGATCTTGTCCTCT	0.498			"T, Mis, A"	"NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22"	"ALCL, NSCLC, Neuroblastoma"	neuroblastoma			Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome																													ENST00000389048.3			yes	Dom	yes	Familial neuroblastoma	2	2p23	238	"T, Mis, A"	anaplastic lymphoma kinase (Ki-1)			"L, E, M"	"NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22"	neuroblastoma	"ALCL, NSCLC, Neuroblastoma"	ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9)	0				NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2)	340						c.(1930-1932)Atc>Gtc		anaplastic lymphoma receptor tyrosine kinase	Adenosine triphosphate(DB00171)						90	90	90					2																	29498076		2203	4300	6503	SO:0001583	missense	238	Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome	Familial Cancer Database	Familial Neuroblastoma;CCHS, Ondine Curse, incl. Ondine-Hirschsprung Disease	protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity	g.chr2:29498076T>C	D45915	CCDS33172.1	2p23	2014-09-17	2008-01-23		ENSG00000171094	ENSG00000171094		"CD molecules"	427	protein-coding gene	gene with protein product		105590	"anaplastic lymphoma kinase (Ki-1)"			8122112	Standard	NM_004304		Approved	CD246	uc002rmy.3	Q9UM73	OTTHUMG00000152034	ENST00000389048.3:c.1930A>G	2.37:g.29498076T>C	ENSP00000373700:p.Ile644Val					ALK_ENST00000431873.1_Intron	p.I644V	NM_004304.4	NP_004295.2	Q9UM73	ALK_HUMAN			11	2836	-	Acute lymphoblastic leukemia(172;0.155)		644					Q4ZFX9|Q53QQ6|Q53RZ4|Q59FI3|Q9Y4K6	Missense_Mutation	SNP	ENST00000389048.3	37	c.1930A>G	CCDS33172.1	.	.	.	.	.	.	.	.	.	.	T	1.398	-0.579027	0.03854	.	.	ENSG00000171094	ENST00000389048	T	0.76316	-1.01	4.97	-4.02	0.04034	.	0.726416	0.12099	N	0.499632	T	0.58750	0.2144	L	0.40543	1.245	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.40459	-0.9562	9	.	.	.	.	1.7268	0.02923	0.1384:0.3326:0.1427:0.3863	.	644	Q9UM73	ALK_HUMAN	V	644	ENSP00000373700:I644V	.	I	-	1	0	ALK	29351580	0.000000	0.05858	0.006000	0.13384	0.033000	0.12548	-1.210000	0.02999	-1.091000	0.03065	-0.379000	0.06801	ATC		0.498	ALK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324994.1	NM_004304		11	52	0	0	0	1	0	11	52					C	29498076	T	C	29498076	3	2	328	1	0	0	0	0	1	0	0	0	525	1435	50	4	3008	4	ALK	2	29498076	Missense_Mutation	SNP	T	TCGA-KK-A7B1-01A-11D-A32B-08		29498076	213701297	4	16745											
TNFAIP6	7130	broad.mit.edu	37	chr2	152222683	152222683	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcattattgattatggaatcCgtctcaataggagtgaaaga	14	12	10	5	1	1	3	1	2	1	1	3	5	2	5	1	2	0	1	1	2	6	4	rs373227124		TCGA-KK-A7B1-01A-11D-A32B-08	TCGA-KK-A7B1-11A-12D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c866d486-7422-4b92-89e2-f77933384d64	d47e6a60-b436-4ee5-b201-819ac01c600b	g.chr2:152222683C>T	ENST00000243347.3	+	3	421	c.346C>T	c.(346-348)Cgt>Tgt	p.R116C	MIR4773-1_ENST00000585225.1_RNA	NM_007115.3	NP_009046.2	P98066	TSG6_HUMAN	tumor necrosis factor, alpha-induced protein 6	116	Link. {ECO:0000255|PROSITE- ProRule:PRU00323}.				cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|inflammatory response (GO:0006954)|signal transduction (GO:0007165)		hyaluronic acid binding (GO:0005540)			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	13				BRCA - Breast invasive adenocarcinoma(221;0.131)	Hyaluronan(DB08818)	TTATGGAATCCGTCTCAATAG	0.428																																						ENST00000243347.3																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	13						c.(346-348)Cgt>Tgt		tumor necrosis factor, alpha-induced protein 6		C	CYS/ARG	0,4406		0,0,2203	117	113	115		346	5.2	1	2		115	1,8599	1.2+/-3.3	0,1,4299	no	missense	TNFAIP6	NM_007115.3	180	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	116/278	152222683	1,13005	2203	4300	6503	SO:0001583	missense	7130				cell adhesion|cell-cell signaling|inflammatory response|signal transduction		hyaluronic acid binding	g.chr2:152222683C>T		CCDS2193.1	2q23.3	2008-11-18			ENSG00000123610	ENSG00000123610			11898	protein-coding gene	gene with protein product		600410				1730767, 8568267, 15060082	Standard	NM_007115		Approved	TSG6, TSG-6	uc002txk.3	P98066	OTTHUMG00000131884	ENST00000243347.3:c.346C>T	2.37:g.152222683C>T	ENSP00000243347:p.Arg116Cys						p.R116C	NM_007115.3	NP_009046.2	P98066	TSG6_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.131)	3	421	+			116			Link.		Q53TI7|Q8WWI9	Missense_Mutation	SNP	ENST00000243347.3	37	c.346C>T	CCDS2193.1	.	.	.	.	.	.	.	.	.	.	C	14.22	2.470789	0.43942	0.0	1.16E-4	ENSG00000123610	ENST00000243347	T	0.35421	1.31	5.15	5.15	0.70609	C-type lectin fold (1);Link (3);C-type lectin-like (1);	0.000000	0.85682	D	0.000000	T	0.72053	0.3413	H	0.94423	3.535	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.80935	-0.1160	10	0.72032	D	0.01	.	18.9653	0.92694	0.0:1.0:0.0:0.0	.	116	P98066	TSG6_HUMAN	C	116	ENSP00000243347:R116C	ENSP00000243347:R116C	R	+	1	0	TNFAIP6	151930929	1.000000	0.71417	0.998000	0.56505	0.082000	0.17680	4.539000	0.60657	2.526000	0.85167	0.563000	0.77884	CGT		0.428	TNFAIP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254834.2	NM_007115		16	56	0	0	0	1	0	16	56					T	152222683	C	T	152222683	3	4	328	1	0	0	0	0	1	0	0	0	16272	652	23	2	356	2	TNFAIP6	2	152222683	Missense_Mutation	SNP	C	TCGA-KK-A7B1-01A-11D-A32B-08	122724607	152222683	90976690	5	16746											
LPHN3	23284	broad.mit.edu	37	chr4	62800613	62800613	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acaagctttgaatgcatggaGagacctgactacgagtgatc	13	9	11	8	1	0	4	0	3	0	1	1	7	0	5	1	1	3	2	1	1	3	2			TCGA-KK-A7B1-01A-11D-A32B-08	TCGA-KK-A7B1-11A-12D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c866d486-7422-4b92-89e2-f77933384d64	d47e6a60-b436-4ee5-b201-819ac01c600b	g.chr4:62800613G>A	ENST00000514591.1	+	13	2293	c.1964G>A	c.(1963-1965)aGa>aAa	p.R655K	LPHN3_ENST00000504896.1_Missense_Mutation_p.R655K|LPHN3_ENST00000508078.1_3'UTR|LPHN3_ENST00000545650.1_Missense_Mutation_p.R655K|LPHN3_ENST00000507164.1_Missense_Mutation_p.R723K|LPHN3_ENST00000508946.1_Missense_Mutation_p.R655K|LPHN3_ENST00000508693.1_Missense_Mutation_p.R723K|LPHN3_ENST00000514157.1_Missense_Mutation_p.R655K|LPHN3_ENST00000506746.1_Missense_Mutation_p.R723K|LPHN3_ENST00000507625.1_Missense_Mutation_p.R723K|LPHN3_ENST00000511324.1_Missense_Mutation_p.R723K|LPHN3_ENST00000509896.1_Missense_Mutation_p.R723K|LPHN3_ENST00000514996.1_Missense_Mutation_p.R655K|LPHN3_ENST00000512091.2_Missense_Mutation_p.R655K|LPHN3_ENST00000506700.1_Missense_Mutation_p.R655K|LPHN3_ENST00000506720.1_Missense_Mutation_p.R723K			Q9HAR2	LPHN3_HUMAN	latrophilin 3	642					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|G-protein coupled receptor activity (GO:0004930)			breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						AATGCATGGAGAGACCTGACT	0.483																																						ENST00000512091.1																			0				breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						c.(1963-1965)aGa>aAa		latrophilin 3							87	92	90					4																	62800613		2079	4219	6298	SO:0001583	missense	23284				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding	g.chr4:62800613G>A	AB018311	CCDS54768.1	4q13.1	2014-08-08				ENSG00000150471		"-", "GPCR / Class B : Orphans"	20974	protein-coding gene	gene with protein product						10994649	Standard	NM_015236		Approved	KIAA0768, LEC3	uc010ihh.3	Q9HAR2		ENST00000514591.1:c.1964G>A	4.37:g.62800613G>A	ENSP00000422533:p.Arg655Lys					LPHN3_ENST00000506720.1_Missense_Mutation_p.R723K|LPHN3_ENST00000508946.1_Missense_Mutation_p.R655K|LPHN3_ENST00000545650.1_Missense_Mutation_p.R655K|LPHN3_ENST00000509896.1_Missense_Mutation_p.R723K|LPHN3_ENST00000506700.1_Missense_Mutation_p.R655K|LPHN3_ENST00000514591.1_Missense_Mutation_p.R655K|LPHN3_ENST00000507625.1_Missense_Mutation_p.R723K|LPHN3_ENST00000508078.1_3'UTR|LPHN3_ENST00000508693.1_Missense_Mutation_p.R723K|LPHN3_ENST00000506746.1_Missense_Mutation_p.R723K|LPHN3_ENST00000507164.1_Missense_Mutation_p.R723K|LPHN3_ENST00000511324.1_Missense_Mutation_p.R723K|LPHN3_ENST00000514996.1_Missense_Mutation_p.R655K|LPHN3_ENST00000514157.1_Missense_Mutation_p.R655K|LPHN3_ENST00000504896.1_Missense_Mutation_p.R655K	p.R655K			Q9HAR2	LPHN3_HUMAN			13	2711	+			642					E9PE04|O94867|Q9NWK5	Missense_Mutation	SNP	ENST00000514591.1	37	c.1964G>A	CCDS54768.1	.	.	.	.	.	.	.	.	.	.	G	8.931	0.963424	0.18583	.	.	ENSG00000150471	ENST00000512091;ENST00000514591;ENST00000509896;ENST00000511324;ENST00000506700;ENST00000534975;ENST00000545650;ENST00000295349;ENST00000280009;ENST00000507164;ENST00000508693;ENST00000507625;ENST00000514157;ENST00000504896;ENST00000508946;ENST00000506720;ENST00000506746;ENST00000514996	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.09538	2.97;2.97;2.97;2.97;2.97;2.97;2.97;2.97;2.97;2.97;2.97;2.97;2.97;2.97;2.97	5.43	4.58	0.56647	Domain of unknown function DUF3497 (1);	0.139364	0.64402	N	0.000005	T	0.09512	0.0234	L	0.38531	1.155	0.47778	D	0.999514	P;P;P	0.38617	0.64;0.64;0.587	B;B;B	0.40602	0.334;0.334;0.225	T	0.02868	-1.1100	10	0.02654	T	1	.	14.1765	0.65544	0.0714:0.0:0.9286:0.0	.	655;642;655	E9PE04;Q9HAR2;Q9HAR2-2	.;LPHN3_HUMAN;.	K	655;655;723;723;655;642;655;642;655;723;723;723;655;655;655;723;723;655	ENSP00000423388:R655K;ENSP00000422533:R655K;ENSP00000423787:R723K;ENSP00000425033:R723K;ENSP00000424120:R655K;ENSP00000439831:R655K;ENSP00000421476:R723K;ENSP00000424030:R723K;ENSP00000421372:R723K;ENSP00000425201:R655K;ENSP00000423434:R655K;ENSP00000421627:R655K;ENSP00000420931:R723K;ENSP00000425884:R723K;ENSP00000424258:R655K	ENSP00000280009:R655K	R	+	2	0	LPHN3	62483208	1.000000	0.71417	1.000000	0.80357	0.914000	0.54420	4.748000	0.62148	1.518000	0.48934	0.650000	0.86243	AGA		0.483	LPHN3-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000361765.1			5	35	0	0	0	1	0	5	35					A	62800613	G	A	62800613	3	1	328	1	0	0	0	0	1	0	0	0	8917	942	33	3	2006	3	LPHN3	4	62800613	Missense_Mutation	SNP	G	TCGA-KK-A7B1-01A-11D-A32B-08		62800613	128353663	6	16747											
BMPR1B	658	broad.mit.edu	37	chr4	96046274	96046275	+	Splice_Site	INS	-	-	A																															tcaggcctccctctgctggtINSatgagaagaacacatcttga																										TCGA-KK-A7B1-01A-11D-A32B-08	TCGA-KK-A7B1-11A-12D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c866d486-7422-4b92-89e2-f77933384d64	d47e6a60-b436-4ee5-b201-819ac01c600b	g.chr4:96046274_96046275insA	ENST00000515059.1	+	8	868		c.e8+2		BMPR1B_ENST00000264568.4_Splice_Site|BMPR1B_ENST00000394931.1_Splice_Site|BMPR1B_ENST00000440890.2_Splice_Site	NM_001203.2	NP_001194.1	O00238	BMR1B_HUMAN	bone morphogenetic protein receptor, type IB						BMP signaling pathway (GO:0030509)|cartilage condensation (GO:0001502)|chondrocyte differentiation (GO:0002062)|dorsal/ventral pattern formation (GO:0009953)|eye development (GO:0001654)|inflammatory response (GO:0006954)|limb morphogenesis (GO:0035108)|ovarian cumulus expansion (GO:0001550)|ovulation cycle (GO:0042698)|positive regulation of bone mineralization (GO:0030501)|positive regulation of cell differentiation (GO:0045597)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of osteoblast differentiation (GO:0045669)|protein phosphorylation (GO:0006468)|retina development in camera-type eye (GO:0060041)|retinal ganglion cell axon guidance (GO:0031290)|skeletal system development (GO:0001501)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|SMAD binding (GO:0046332)|transforming growth factor beta receptor activity, type I (GO:0005025)|transmembrane receptor protein serine/threonine kinase activity (GO:0004675)			breast(3)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(11)|lung(8)|ovary(1)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.51e-07)		CCTCTGCTGGTATGAGAAGAAC	0.421																																						ENST00000515059.1																			0				breast(3)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(11)|lung(8)|ovary(1)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31						c.e8+2		bone morphogenetic protein receptor, type IB																																				SO:0001630	splice_region_variant	658				BMP signaling pathway|cartilage condensation|eye development|limb morphogenesis|ovarian cumulus expansion|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	receptor complex	ATP binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta receptor activity	g.chr4:96046274_96046275insA	D89675	CCDS3642.1, CCDS58919.1	4q23-q24	2008-02-05			ENSG00000138696	ENSG00000138696		"CD molecules"	1077	protein-coding gene	gene with protein product		603248				8140412, 9730621	Standard	NM_001203		Approved	ALK6, CDw293	uc031sgn.1	O00238	OTTHUMG00000130991	ENST00000515059.1:c.585+2->A	4.37:g.96046275_96046275dupA						BMPR1B_ENST00000394931.1_Splice_Site|BMPR1B_ENST00000440890.2_Splice_Site|BMPR1B_ENST00000264568.4_Splice_Site		NM_001203.2	NP_001194.1	O00238	BMR1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;6.51e-07)	8	868	+		Hepatocellular(203;0.114)						B2R953|B4DSV1|P78366	Splice_Site	INS	ENST00000515059.1	37		CCDS3642.1																																																																																				0.421	BMPR1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253609.3	NM_001203	Intron	11	36						11	36	---	---	---	---	A	96046275	-	A	96046274	8	5	328	1	0	1	1	0	0	0	1	0	1470	1652	57	0	605	0	BMPR1B	4	96046274	Splice_Site	INS	-	TCGA-KK-A7B1-01A-11D-A32B-08	33245661	96046274	95108002	7	16748											
AADAT	51166	broad.mit.edu	37	chr4	170988533	170988533	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcgtgtagaagctgtgataTcatgagctaaaagagataaa	16	11	10	4	1	1	4	1	2	0	2	2	5	1	4	0	0	2	3	0	0	7	5	rs368676033		TCGA-KK-A7B1-01A-11D-A32B-08	TCGA-KK-A7B1-11A-12D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c866d486-7422-4b92-89e2-f77933384d64	d47e6a60-b436-4ee5-b201-819ac01c600b	g.chr4:170988533T>C	ENST00000337664.4	-	9	1183	c.907A>G	c.(907-909)Ata>Gta	p.I303V	AADAT_ENST00000509167.1_Missense_Mutation_p.I307V|AADAT_ENST00000353187.2_Missense_Mutation_p.I303V|AADAT_ENST00000515480.1_Missense_Mutation_p.I303V	NM_016228.3	NP_057312.1	Q8N5Z0	AADAT_HUMAN	aminoadipate aminotransferase	303					2-oxoglutarate metabolic process (GO:0006103)|biosynthetic process (GO:0009058)|cellular nitrogen compound metabolic process (GO:0034641)|glutamate metabolic process (GO:0006536)|kynurenine metabolic process (GO:0070189)|L-kynurenine metabolic process (GO:0097052)|L-lysine catabolic process to acetyl-CoA via saccharopine (GO:0033512)|lysine catabolic process (GO:0006554)|small molecule metabolic process (GO:0044281)|tryptophan catabolic process (GO:0006569)|tryptophan catabolic process to kynurenine (GO:0019441)	mitochondrial matrix (GO:0005759)	2-aminoadipate transaminase activity (GO:0047536)|kynurenine-oxoglutarate transaminase activity (GO:0016212)|protein homodimerization activity (GO:0042803)|pyridoxal phosphate binding (GO:0030170)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|pancreas(1)|stomach(1)	11		Prostate(90;0.00601)|Renal(120;0.0183)|all_neural(102;0.122)|Melanoma(52;0.17)		GBM - Glioblastoma multiforme(119;0.0355)|LUSC - Lung squamous cell carcinoma(193;0.118)		AGCTGTGATATCATGAGCTAA	0.333																																						ENST00000337664.4																			0				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|pancreas(1)|stomach(1)	11						c.(907-909)Ata>Gta		aminoadipate aminotransferase	L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)						80	78	79					4																	170988533		2203	4300	6503	SO:0001583	missense	51166				2-oxoglutarate metabolic process|biosynthetic process|glutamate metabolic process|lysine catabolic process	mitochondrial matrix	2-aminoadipate transaminase activity|kynurenine-oxoglutarate transaminase activity|protein homodimerization activity	g.chr4:170988533T>C	AF097994	CCDS3814.1, CCDS75209.1	4q33	2010-12-09			ENSG00000109576	ENSG00000109576	2.6.1.39		17929	protein-coding gene	gene with protein product	"kynurenine aminotransferase II", "L kynurenine/alpha aminoadipate aminotransferase"	611754				12126930, 10441733	Standard	NM_182662		Approved	KATII, KAT2	uc003isr.3	Q8N5Z0	OTTHUMG00000160912	ENST00000337664.4:c.907A>G	4.37:g.170988533T>C	ENSP00000336808:p.Ile303Val					AADAT_ENST00000353187.2_Missense_Mutation_p.I303V|AADAT_ENST00000509167.1_Missense_Mutation_p.I307V|AADAT_ENST00000515480.1_Missense_Mutation_p.I303V	p.I303V	NM_016228.3	NP_057312.1	Q8N5Z0	AADAT_HUMAN		GBM - Glioblastoma multiforme(119;0.0355)|LUSC - Lung squamous cell carcinoma(193;0.118)	9	1183	-		Prostate(90;0.00601)|Renal(120;0.0183)|all_neural(102;0.122)|Melanoma(52;0.17)	303					B3KP84|Q9UL02	Missense_Mutation	SNP	ENST00000337664.4	37	c.907A>G	CCDS3814.1	.	.	.	.	.	.	.	.	.	.	T	1.656	-0.512739	0.04200	.	.	ENSG00000109576	ENST00000337664;ENST00000515480;ENST00000509167;ENST00000353187	D;D;D;D	0.88975	-2.45;-2.45;-2.45;-2.45	5.8	-3.64	0.04515	Aminotransferase, class I/classII (1);Pyridoxal phosphate-dependent transferase, major region, subdomain 2 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.321314	0.36703	N	0.002444	T	0.70263	0.3204	N	0.04820	-0.15	0.21802	N	0.99953	B;B	0.02656	0.0;0.0	B;B	0.09377	0.003;0.004	T	0.57940	-0.7724	10	0.02654	T	1	-9.224	15.3238	0.74144	0.0:0.2187:0.0:0.7813	.	307;303	Q8N5Z0-2;Q8N5Z0	.;AADAT_HUMAN	V	303;303;307;303	ENSP00000336808:I303V;ENSP00000423341:I303V;ENSP00000423190:I307V;ENSP00000226840:I303V	ENSP00000336808:I303V	I	-	1	0	AADAT	171225108	0.061000	0.20836	0.003000	0.11579	0.239000	0.25481	-0.444000	0.06854	-0.550000	0.06183	0.460000	0.39030	ATA		0.333	AADAT-004	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000362952.1	NM_016228		14	35	0	0	0	1	0	14	35					C	170988533	T	C	170988533	3	2	328	1	0	0	0	0	1	0	0	0	14	1435	50	4	390	4	AADAT	4	170988533	Missense_Mutation	SNP	T	TCGA-KK-A7B1-01A-11D-A32B-08	74942259	170988533	20165743	8	16749											
RBM27	54439	broad.mit.edu	37	chr5	145641086	145641086	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cttcaaggttgcttttaaggGtgacccagaagcagccctaa	11	10	10	10	0	1	2	1	1	0	1	1	2	1	2	2	2	3	3	2	2	4	5			TCGA-KK-A7B1-01A-11D-A32B-08	TCGA-KK-A7B1-11A-12D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c866d486-7422-4b92-89e2-f77933384d64	d47e6a60-b436-4ee5-b201-819ac01c600b	g.chr5:145641086G>T	ENST00000265271.5	+	13	2073	c.1907G>T	c.(1906-1908)gGt>gTt	p.G636V	RBM27_ENST00000506502.1_Missense_Mutation_p.G581V	NM_018989.1	NP_061862.1	Q9P2N5	RBM27_HUMAN	RNA binding motif protein 27	636	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA processing (GO:0006397)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(2)|breast(1)|central_nervous_system(3)|endometrium(4)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	39			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GCTTTTAAGGGTGACCCAGAA	0.368																																						ENST00000265271.5																			0				NS(2)|breast(1)|central_nervous_system(3)|endometrium(4)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	39						c.(1906-1908)gGt>gTt		RNA binding motif protein 27							84	76	79					5																	145641086		1568	3582	5150	SO:0001583	missense	54439				mRNA processing	cytoplasm|nuclear speck	nucleotide binding|RNA binding|zinc ion binding	g.chr5:145641086G>T	AL833706	CCDS43378.1	5q32	2013-01-09				ENSG00000091009		"Zinc fingers, CCCH-type domain containing", "RNA binding motif (RRM) containing"	29243	protein-coding gene	gene with protein product	"acidic rich RS domain containing 1"					10718198, 15741184	Standard	NM_018989		Approved	KIAA1311, ARRS1, Psc1, ZC3H18	uc003lnz.4	Q9P2N5		ENST00000265271.5:c.1907G>T	5.37:g.145641086G>T	ENSP00000265271:p.Gly636Val					RBM27_ENST00000506502.1_Missense_Mutation_p.G581V	p.G636V	NM_018989.1	NP_061862.1	Q9P2N5	RBM27_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		13	2073	+			636			RRM.		Q8IYW9	Missense_Mutation	SNP	ENST00000265271.5	37	c.1907G>T	CCDS43378.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.166200	0.78339	.	.	ENSG00000091009	ENST00000265271	T	0.52526	0.66	5.5	5.5	0.81552	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (2);	0.147962	0.46758	D	0.000279	T	0.63988	0.2558	M	0.72894	2.215	0.80722	D	1	D;D	0.63046	0.992;0.992	D;D	0.67548	0.952;0.952	T	0.65693	-0.6106	10	0.56958	D	0.05	-14.8224	10.5156	0.44887	0.1179:0.0:0.8821:0.0	.	636;581	Q9P2N5;B3KY61	RBM27_HUMAN;.	V	636	ENSP00000265271:G636V	ENSP00000265271:G636V	G	+	2	0	RBM27	145621279	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.256000	0.78350	2.593000	0.87608	0.561000	0.74099	GGT		0.368	RBM27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373420.1	XM_291128		4	65	1	0	0.00909568	1	0.00909568	4	65					T	145641086	G	T	145641086	3	4	328	1	0	0	0	0	1	0	0	0	13127	1261	44	5	1957	5	RBM27	5	145641086	Missense_Mutation	SNP	G	TCGA-KK-A7B1-01A-11D-A32B-08		145641086	35274174	9	16750											
C5orf45	51149	broad.mit.edu	37	chr5	179264450	179264450	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtcacatagtcgtgtgggtcGaggattctgtgcctccagga	7	11	14	9	2	2	0	1	0	1	0	5	3	3	2	2	3	1	0	2	3	1	2			TCGA-KK-A7B1-01A-11D-A32B-08	TCGA-KK-A7B1-11A-12D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c866d486-7422-4b92-89e2-f77933384d64	d47e6a60-b436-4ee5-b201-819ac01c600b	g.chr5:179264450G>A	ENST00000292586.6	-	7	1063	c.973C>T	c.(973-975)Cga>Tga	p.R325*	C5orf45_ENST00000518235.1_Intron|C5orf45_ENST00000520698.1_Intron|C5orf45_ENST00000518219.1_3'UTR|C5orf45_ENST00000523084.1_Nonsense_Mutation_p.R191*|C5orf45_ENST00000403396.2_Intron|SQSTM1_ENST00000389805.4_3'UTR|SQSTM1_ENST00000376929.3_3'UTR|C5orf45_ENST00000376931.2_Nonsense_Mutation_p.R270*|C5orf45_ENST00000523267.1_5'UTR	NM_016175.3	NP_057259.2	Q6NTE8	CE045_HUMAN	chromosome 5 open reading frame 45	325										breast(2)|endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	12						CGTGTGGGTCGAGGATTCTGT	0.547																																						ENST00000292586.6																			0				breast(2)|endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	12						c.(973-975)Cga>Tga		chromosome 5 open reading frame 45							175	177	177					5																	179264450		2203	4300	6503	SO:0001587	stop_gained	51149							g.chr5:179264450G>A		CCDS34318.1, CCDS34319.1	5q35.3	2008-07-10			ENSG00000161010	ENSG00000161010			30817	protein-coding gene	gene with protein product	"truncated calcium binding protein"						Standard	NM_016175		Approved	MGC65027, MGC78537, DKFZp686L2452, LOC51149	uc003mla.3	Q6NTE8	OTTHUMG00000163490	ENST00000292586.6:c.973C>T	5.37:g.179264450G>A	ENSP00000292586:p.Arg325*					C5orf45_ENST00000523267.1_5'UTR|C5orf45_ENST00000523084.1_Nonsense_Mutation_p.R191*|C5orf45_ENST00000403396.2_Intron|C5orf45_ENST00000518219.1_3'UTR|SQSTM1_ENST00000389805.4_3'UTR|SQSTM1_ENST00000376929.3_3'UTR|C5orf45_ENST00000518235.1_Intron|C5orf45_ENST00000376931.2_Nonsense_Mutation_p.R270*|C5orf45_ENST00000520698.1_Intron	p.R325*	NM_016175.3	NP_057259.2	Q6NTE8	CE045_HUMAN			7	1063	-			325					B5MD09|E9PAK6|Q7Z3D8|Q9BUC1|Q9UN54	Nonsense_Mutation	SNP	ENST00000292586.6	37	c.973C>T	CCDS34319.1	.	.	.	.	.	.	.	.	.	.	G	16.41	3.116392	0.56505	.	.	ENSG00000161010	ENST00000376931;ENST00000523084;ENST00000292586	.	.	.	4.49	0.156	0.14910	.	0.669254	0.13497	N	0.383506	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.10111	T	0.7	0.2007	1.634	0.02738	0.1905:0.3013:0.3545:0.1538	.	.	.	.	X	270;191;325	.	ENSP00000292586:R325X	R	-	1	2	C5orf45	179197056	0.002000	0.14202	0.000000	0.03702	0.003000	0.03518	0.441000	0.21611	-0.100000	0.12241	0.462000	0.41574	CGA		0.547	C5orf45-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000373760.2	NM_016175		4	204	0	0	0	1	0	4	204					A	179264450	G	A	179264450	4	1	328	1	0	0	0	0	0	1	0	0	2304	1066	37	2	62	2	C5orf45	5	179264450	Nonsense_Mutation	SNP	G	TCGA-KK-A7B1-01A-11D-A32B-08	33623364	179264450	1650810	10	16751											
RPL10A	4736	broad.mit.edu	37	chr6	35437258	35437258	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atatcccccacatggacatcGaggcgctgaaaaaactcaac	15	6	7	13	2	1	1	1	1	0	0	3	3	2	2	2	2	2	1	2	2	5	1	rs11266793		TCGA-KK-A7B1-01A-11D-A32B-08	TCGA-KK-A7B1-11A-12D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c866d486-7422-4b92-89e2-f77933384d64	d47e6a60-b436-4ee5-b201-819ac01c600b	g.chr6:35437258G>T	ENST00000322203.6	+	4	289	c.262G>T	c.(262-264)Gag>Tag	p.E88*	RPL10A_ENST00000467020.1_3'UTR	NM_007104.4	NP_009035.3	P62906	RL10A_HUMAN	ribosomal protein L10a	88					anatomical structure morphogenesis (GO:0009653)|cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			breast(1)|large_intestine(2)|ovary(1)	4						CATGGACATCGAGGCGCTGAA	0.552																																						ENST00000322203.6																			0				breast(1)|large_intestine(2)|ovary(1)	4						c.(262-264)Gag>Tag		ribosomal protein L10a							45	46	46					6																	35437258		2203	4300	6503	SO:0001587	stop_gained	4736				anatomical structure morphogenesis|endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosol|large ribosomal subunit	RNA binding|structural constituent of ribosome	g.chr6:35437258G>T	U12404	CCDS4806.1	6p21.31	2011-04-06			ENSG00000198755	ENSG00000198755		"L ribosomal proteins"	10299	protein-coding gene	gene with protein product		615660		NEDD6		7609734, 9647638	Standard	NM_007104		Approved	Csa-19, L10A	uc003okp.1	P62906	OTTHUMG00000014566	ENST00000322203.6:c.262G>T	6.37:g.35437258G>T	ENSP00000363018:p.Glu88*					RPL10A_ENST00000467020.1_3'UTR	p.E88*	NM_007104.4	NP_009035.3	P62906	RL10A_HUMAN			4	289	+			88					B2R801|P52859|P53025|Q5TZT6|Q8J013	Nonsense_Mutation	SNP	ENST00000322203.6	37	c.262G>T	CCDS4806.1	.	.	.	.	.	.	.	.	.	.	G	34	5.412615	0.96072	.	.	ENSG00000198755	ENST00000322203	.	.	.	4.88	4.88	0.63580	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	.	16.623	0.84934	0.0:0.0:1.0:0.0	rs11266793	.	.	.	X	88	.	ENSP00000363018:E88X	E	+	1	0	RPL10A	35545236	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.791000	0.99081	2.255000	0.74692	0.455000	0.32223	GAG		0.552	RPL10A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040283.1	NM_007104		9	22	1	0	0.000442599	1	0.000469424	9	22					T	35437258	G	T	35437258	4	4	328	1	0	0	0	0	0	1	0	0	13555	1059	37	5	276	5	RPL10A	6	35437258	Nonsense_Mutation	SNP	G	TCGA-KK-A7B1-01A-11D-A32B-08		35437258	135677809	11	16752											
PHF14	9678	broad.mit.edu	37	chr7	11075358	11075358	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	aaactacttggctctacagtCctattgtaaaatgtctttgc	11	15	6	9	0	2	0	0	0	2	0	3	0	3	0	1	1	4	2	1	1	6	7			TCGA-KK-A7B1-01A-11D-A32B-08	TCGA-KK-A7B1-11A-12D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c866d486-7422-4b92-89e2-f77933384d64	d47e6a60-b436-4ee5-b201-819ac01c600b	g.chr7:11075358C>T	ENST00000403050.3	+	8	1999	c.1547C>T	c.(1546-1548)tCc>tTc	p.S516F	PHF14_ENST00000445996.2_Missense_Mutation_p.S231F	NM_014660.3	NP_055475.2	O94880	PHF14_HUMAN	PHD finger protein 14	516					lung alveolus development (GO:0048286)|negative regulation of mesenchymal cell proliferation involved in lung development (GO:2000791)|negative regulation of platelet-derived growth factor receptor-alpha signaling pathway (GO:2000584)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)			NS(2)|breast(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	35				UCEC - Uterine corpus endometrioid carcinoma (126;0.205)		GCTCTACAGTCCTATTGTAAA	0.368																																						ENST00000403050.3																			0				NS(2)|breast(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	35						c.(1546-1548)tCc>tTc		PHD finger protein 14							186	183	184					7																	11075358		1861	4103	5964	SO:0001583	missense	9678						zinc ion binding	g.chr7:11075358C>T	AB018326	CCDS47542.1	7p21.3	2013-01-28			ENSG00000106443	ENSG00000106443		"Zinc fingers, PHD-type"	22203	protein-coding gene	gene with protein product						9872452	Standard	NM_014660		Approved	KIAA0783	uc003sry.2	O94880	OTTHUMG00000150463	ENST00000403050.3:c.1547C>T	7.37:g.11075358C>T	ENSP00000385795:p.Ser516Phe					PHF14_ENST00000445996.2_Missense_Mutation_p.S231F	p.S516F	NM_014660.3	NP_055475.2	O94880	PHF14_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.205)	8	1999	+			516					A7MCZ3|B4DI82	Missense_Mutation	SNP	ENST00000403050.3	37	c.1547C>T	CCDS47542.1	.	.	.	.	.	.	.	.	.	.	C	16.76	3.211509	0.58343	.	.	ENSG00000106443	ENST00000403050;ENST00000445996	T;T	0.71579	-0.22;-0.58	5.98	5.98	0.97165	.	0.000000	0.85682	D	0.000000	T	0.76615	0.4012	N	0.19112	0.55	0.80722	D	1	D;D;D;D	0.71674	0.994;0.99;0.998;0.998	D;D;D;D	0.78314	0.989;0.974;0.991;0.991	T	0.77872	-0.2426	10	0.54805	T	0.06	.	20.4581	0.99154	0.0:1.0:0.0:0.0	.	231;231;516;516	O94880-2;B4DG57;A8MSQ1;O94880	.;.;.;PHF14_HUMAN	F	516;231	ENSP00000385795:S516F;ENSP00000403907:S231F	ENSP00000385795:S516F	S	+	2	0	PHF14	11041883	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	7.800000	0.85949	2.835000	0.97688	0.650000	0.86243	TCC		0.368	PHF14-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000318212.1	NM_014660		37	135	0	0	0	1	0	37	135					T	11075358	C	T	11075358	3	4	328	1	0	0	0	0	1	0	0	0	11825	855	30	3	1577	3	PHF14	7	11075358	Missense_Mutation	SNP	C	TCGA-KK-A7B1-01A-11D-A32B-08		11075358	148063305	12	16753											
PIP5K1B	8395	broad.mit.edu	37	chr9	71509360	71509360	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tggtgatgaacaacgttttgCcacgctccatgagaatgcac	11	10	10	10	2	0	3	0	3	0	1	1	4	1	3	2	1	4	3	2	1	3	2			TCGA-KK-A7B1-01A-11D-A32B-08	TCGA-KK-A7B1-11A-12D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c866d486-7422-4b92-89e2-f77933384d64	d47e6a60-b436-4ee5-b201-819ac01c600b	g.chr9:71509360C>T	ENST00000265382.3	+	8	882	c.577C>T	c.(577-579)Cca>Tca	p.P193S	PIP5K1B_ENST00000541509.1_Missense_Mutation_p.P193S	NM_003558.2	NP_003549.1	O14986	PI51B_HUMAN	phosphatidylinositol-4-phosphate 5-kinase, type I, beta	193	PIPK. {ECO:0000255|PROSITE- ProRule:PRU00781}.				phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|membrane (GO:0016020)|uropod (GO:0001931)	1-phosphatidylinositol-4-phosphate 5-kinase activity (GO:0016308)|ATP binding (GO:0005524)			breast(1)|large_intestine(2)|stomach(1)	4				Lung(182;0.133)		CAACGTTTTGCCACGCTCCAT	0.408																																						ENST00000265382.3																			0				breast(1)|large_intestine(2)|stomach(1)	4						c.(577-579)Cca>Tca		phosphatidylinositol-4-phosphate 5-kinase, type I, beta							99	89	92					9																	71509360		2203	4300	6503	SO:0001583	missense	8395					endomembrane system|membrane|uropod	1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|protein binding	g.chr9:71509360C>T	U78579	CCDS6624.1, CCDS65063.1	9q13	2008-02-05			ENSG00000107242	ENSG00000107242			8995	protein-coding gene	gene with protein product		602745				9177790, 8841185	Standard	NM_003558		Approved	STM7, MSS4	uc004agu.4	O14986	OTTHUMG00000019976	ENST00000265382.3:c.577C>T	9.37:g.71509360C>T	ENSP00000265382:p.Pro193Ser					PIP5K1B_ENST00000541509.1_Missense_Mutation_p.P193S	p.P193S	NM_003558.2	NP_003549.1	O14986	PI51B_HUMAN		Lung(182;0.133)	8	882	+			193			PIPK.		A8K9L9|B4DIG7|P78518|P78519|Q5T5K6|Q5T5K8|Q5T5K9|Q5VZ00|Q7KYT5|Q8NHQ5|Q92749	Missense_Mutation	SNP	ENST00000265382.3	37	c.577C>T	CCDS6624.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.110538	0.77210	.	.	ENSG00000107242	ENST00000541509;ENST00000377290;ENST00000265382;ENST00000419747	T;T	0.35421	1.31;1.31	5.82	5.82	0.92795	Phosphatidylinositol-4-phosphate 5-kinase, core (2);Phosphatidylinositol-4-phosphate 5-kinase, core, subgroup (1);	0.000000	0.85682	D	0.000000	T	0.52757	0.1754	M	0.64676	1.99	0.80722	D	1	P	0.37423	0.594	P	0.48334	0.574	T	0.51521	-0.8695	10	0.87932	D	0	-14.2947	20.1143	0.97922	0.0:1.0:0.0:0.0	.	193	O14986	PI51B_HUMAN	S	193;193;193;140	ENSP00000438082:P193S;ENSP00000265382:P193S	ENSP00000265382:P193S	P	+	1	0	PIP5K1B	70699180	1.000000	0.71417	0.539000	0.28077	0.963000	0.63663	7.669000	0.83911	2.765000	0.95021	0.650000	0.86243	CCA		0.408	PIP5K1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052561.2	NM_003558		4	101	0	0	0	1	0	4	101					T	71509360	C	T	71509360	3	4	328	1	0	0	0	0	1	0	0	0	11940	739	26	3	595	3	PIP5K1B	9	71509360	Missense_Mutation	SNP	C	TCGA-KK-A7B1-01A-11D-A32B-08		71509360	69704071	13	16754											
CDH23	64072	broad.mit.edu	37	chr10	73544680	73544680	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atccgggtgctggacatcaaCgacaacgaccctgtgctgct	9	8	11	13	3	1	0	1	0	0	0	2	3	2	1	2	2	5	3	2	2	2	0			TCGA-KK-A7B1-01A-11D-A32B-08	TCGA-KK-A7B1-11A-12D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c866d486-7422-4b92-89e2-f77933384d64	d47e6a60-b436-4ee5-b201-819ac01c600b	g.chr10:73544680C>T	ENST00000224721.6	+	42	5555	c.5550C>T	c.(5548-5550)aaC>aaT	p.N1850N		NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	1845	Cadherin 17. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium ion transport (GO:0006816)|calcium-dependent cell-cell adhesion (GO:0016339)|cytosolic calcium ion homeostasis (GO:0051480)|equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						TGGACATCAACGACAACGACC	0.597																																						ENST00000224721.6																			0				NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						c.(5548-5550)aaC>aaT		cadherin-related 23							84	89	87					10																	73544680		2184	4279	6463	SO:0001819	synonymous_variant	64072				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding	g.chr10:73544680C>T	AY010111	CCDS53540.1, CCDS73146.1	10q22.1	2014-08-08	2010-01-25		ENSG00000107736	ENSG00000107736		"Cadherins / Cadherin-related"	13733	protein-coding gene	gene with protein product	"cadherin-related family member 23"	605516	"cadherin related 23", "cadherin-like 23"	DFNB12, USH1D		11090341	Standard	NM_022124		Approved	CDHR23	uc001jrx.4	Q9H251	OTTHUMG00000019347	ENST00000224721.6:c.5550C>T	10.37:g.73544680C>T							p.N1850N	NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN			42	5555	+			1845			Cadherin 17.		C4IXS9|F6U049|Q5QGS1|Q5QGS2|Q5QGS5|Q5QGS6|Q5XKN2|Q6UWW1|Q96JL3|Q9H4K9	Silent	SNP	ENST00000224721.6	37	c.5550C>T																																																																																					0.597	CDH23-001	PUTATIVE	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000051227.4	NM_052836		12	27	0	0	0	1	0	12	27					T	73544680	C	T	73544680	2	4	328	1	0	0	0	0	0	0	0	1	3108	535	19	1		1	CDH23	10	73544680	Silent	SNP	C	TCGA-KK-A7B1-01A-11D-A32B-08		73544680	61990067	14	16755											
OR5P2	120065	broad.mit.edu	37	chr11	7817803	7817803	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gtggagaaggccttgtggtgCccctcagtggagcgcatctt	6	10	15	10	1	2	1	1	0	1	1	2	3	2	2	3	4	2	1	3	4	1	2			TCGA-KK-A7B1-01A-11D-A32B-08	TCGA-KK-A7B1-11A-12D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c866d486-7422-4b92-89e2-f77933384d64	d47e6a60-b436-4ee5-b201-819ac01c600b	g.chr11:7817803C>T	ENST00000329434.2	-	1	717	c.687G>A	c.(685-687)ggG>ggA	p.G229G	RP11-35J10.5_ENST00000527565.1_lincRNA	NM_153444.1	NP_703145.1	Q8WZ92	OR5P2_HUMAN	olfactory receptor, family 5, subfamily P, member 2	229						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)	22				Epithelial(150;8.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		CCTTGTGGTGCCCCTCAGTGG	0.483																																						ENST00000329434.2																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)	22						c.(685-687)ggG>ggA		olfactory receptor, family 5, subfamily P, member 2							115	117	116					11																	7817803		2104	4292	6396	SO:0001819	synonymous_variant	120065				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:7817803C>T	AF173006	CCDS7782.1	11p15.4	2012-08-09			ENSG00000183303	ENSG00000183303		"GPCR / Class A : Olfactory receptors"	14783	protein-coding gene	gene with protein product							Standard	NM_153444		Approved	JCG3	uc001mfp.1	Q8WZ92	OTTHUMG00000165668	ENST00000329434.2:c.687G>A	11.37:g.7817803C>T						RP11-35J10.5_ENST00000527565.1_lincRNA	p.G229G	NM_153444.1	NP_703145.1	Q8WZ92	OR5P2_HUMAN		Epithelial(150;8.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)	1	717	-			229					Q3MIS8	Silent	SNP	ENST00000329434.2	37	c.687G>A	CCDS7782.1																																																																																				0.483	OR5P2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385696.1	NM_153444		4	74	0	0	0	1	0	4	74					T	7817803	C	T	7817803	2	4	328	1	0	0	0	0	0	0	0	1	11178	726	26	3		3	OR5P2	11	7817803	Silent	SNP	C	TCGA-KK-A7B1-01A-11D-A32B-08		7817803	127188713	15	16756											
KDM5A	5927	broad.mit.edu	37	chr12	416835	416835	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggcctctccttcaggcaaccGtacgggcaacttctgaaggg	8	8	12	13	2	3	1	1	1	2	0	4	1	3	1	3	4	3	3	3	4	4	3			TCGA-KK-A7B1-01A-11D-A32B-08	TCGA-KK-A7B1-11A-12D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c866d486-7422-4b92-89e2-f77933384d64	d47e6a60-b436-4ee5-b201-819ac01c600b	g.chr12:416835G>A	ENST00000399788.2	-	23	4077	c.3715C>T	c.(3715-3717)Cgg>Tgg	p.R1239W	KDM5A_ENST00000382815.4_Missense_Mutation_p.R1239W	NM_001042603.1	NP_001036068.1	P29375	KDM5A_HUMAN	lysine (K)-specific demethylase 5A	1239					chromatin modification (GO:0016568)|circadian regulation of gene expression (GO:0032922)|multicellular organismal development (GO:0007275)|negative regulation of histone deacetylase activity (GO:1901726)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)	p.R1239W(2)		NS(2)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(29)|ovary(1)|prostate(5)|skin(6)|stomach(1)|urinary_tract(2)	77						TCAGGCAACCGTACGGGCAAC	0.512			T	NUP98	AML																																	ENST00000399788.2				Dom	yes		12	12p11	5927	T	"lysine (K)-specific demethylase 5A, JARID1A"			L	NUP98		AML		2	Substitution - Missense(2)	p.R1239W(2)	large_intestine(2)	NS(2)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(29)|ovary(1)|prostate(5)|skin(6)|stomach(1)|urinary_tract(2)	77						c.(3715-3717)Cgg>Tgg		lysine (K)-specific demethylase 5A							76	76	76					12																	416835		1921	4126	6047	SO:0001583	missense	5927				chromatin modification|multicellular organismal development|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleolus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr12:416835G>A		CCDS41736.1	12p13.33	2013-01-28	2009-04-06	2009-04-06	ENSG00000073614	ENSG00000073614		"Chromatin-modifying enzymes / K-demethylases", "Zinc fingers, PHD-type"	9886	protein-coding gene	gene with protein product		180202	"retinoblastoma-binding protein 2", "Jumonji, AT rich interactive domain 1A (RBBP2-like)", "jumonji, AT rich interactive domain 1A"	RBBP2, JARID1A		1857421	Standard	NM_001042603		Approved		uc001qif.1	P29375	OTTHUMG00000168055	ENST00000399788.2:c.3715C>T	12.37:g.416835G>A	ENSP00000382688:p.Arg1239Trp					KDM5A_ENST00000382815.4_Missense_Mutation_p.R1239W	p.R1239W	NM_001042603.1	NP_001036068.1	P29375	KDM5A_HUMAN			23	4077	-			1239					A8MV76|Q4LE72|Q86XZ1	Missense_Mutation	SNP	ENST00000399788.2	37	c.3715C>T	CCDS41736.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.011070	0.75046	.	.	ENSG00000073614	ENST00000399788;ENST00000382815	T;T	0.01209	5.17;5.17	5.66	4.71	0.59529	.	0.000000	0.85682	D	0.000000	T	0.05044	0.0135	L	0.56199	1.76	0.58432	D	0.999999	D;D	0.67145	0.993;0.996	P;D	0.68353	0.832;0.957	T	0.34551	-0.9824	10	0.87932	D	0	-14.4907	15.3118	0.74039	0.0:0.0:0.8315:0.1685	.	1239;1239	P29375;P29375-2	KDM5A_HUMAN;.	W	1239	ENSP00000382688:R1239W;ENSP00000372265:R1239W	ENSP00000372265:R1239W	R	-	1	2	KDM5A	287096	1.000000	0.71417	1.000000	0.80357	0.900000	0.52787	3.803000	0.55560	1.354000	0.45846	0.585000	0.79938	CGG		0.512	KDM5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397812.1	NM_005056		3	54	0	0	0	1	0	3	54					A	416835	G	A	416835	3	1	328	1	0	0	0	0	1	0	0	0	8133	1144	40	1	1381	1	KDM5A	12	416835	Missense_Mutation	SNP	G	TCGA-KK-A7B1-01A-11D-A32B-08		416835	133435060	16	16757											
MTMR6	9107	broad.mit.edu	37	chr13	25848214	25848214	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgcggtcctccttacccaggTttctttttgatgagagtcga	6	15	10	10	2	1	2	0	2	1	1	4	4	3	2	3	2	2	1	3	2	1	4			TCGA-KK-A7B1-01A-11D-A32B-08	TCGA-KK-A7B1-11A-12D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c866d486-7422-4b92-89e2-f77933384d64	d47e6a60-b436-4ee5-b201-819ac01c600b	g.chr13:25848214T>C	ENST00000381801.5	-	2	897	c.136A>G	c.(136-138)Acc>Gcc	p.T46A	MTMR6_ENST00000540661.1_Missense_Mutation_p.T46A	NM_004685.3	NP_004676.3	Q9Y217	MTMR6_HUMAN	myotubularin related protein 6	46					peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|potassium ion transmembrane transport (GO:0071805)|protein dephosphorylation (GO:0006470)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	calcium-activated potassium channel activity (GO:0015269)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)			breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(5)|stomach(3)	36		Lung SC(185;0.0225)|Breast(139;0.0351)		all cancers(112;0.00927)|Epithelial(112;0.0474)|OV - Ovarian serous cystadenocarcinoma(117;0.164)		CTTACCCAGGTTTCTTTTTGA	0.338																																						ENST00000381801.5																			0				breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(5)|stomach(3)	36						c.(136-138)Acc>Gcc		myotubularin related protein 6							122	121	122					13																	25848214		2203	4300	6503	SO:0001583	missense	9107					cytoplasm|nuclear envelope	calcium-activated potassium channel activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity	g.chr13:25848214T>C	AF072928	CCDS9313.1	13q12	2011-06-09			ENSG00000139505	ENSG00000139505		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"	7453	protein-coding gene	gene with protein product		603561				9736772	Standard	NM_004685		Approved		uc001uqf.4	Q9Y217	OTTHUMG00000016606	ENST00000381801.5:c.136A>G	13.37:g.25848214T>C	ENSP00000371221:p.Thr46Ala					MTMR6_ENST00000540661.1_Missense_Mutation_p.T46A	p.T46A	NM_004685.3	NP_004676.3	Q9Y217	MTMR6_HUMAN		all cancers(112;0.00927)|Epithelial(112;0.0474)|OV - Ovarian serous cystadenocarcinoma(117;0.164)	2	897	-		Lung SC(185;0.0225)|Breast(139;0.0351)	46					B2RBB5|B3KSB4|Q5JRG6|Q86TB7|Q86YH4|Q96P80	Missense_Mutation	SNP	ENST00000381801.5	37	c.136A>G	CCDS9313.1	.	.	.	.	.	.	.	.	.	.	T	13.05	2.121574	0.37436	.	.	ENSG00000139505	ENST00000540661;ENST00000541021;ENST00000381801	D;D	0.82081	-1.57;-1.57	5.17	5.17	0.71159	Pleckstrin homology-type (1);	0.051129	0.85682	D	0.000000	D	0.84316	0.5445	M	0.85630	2.765	0.80722	D	1	B;B	0.12013	0.003;0.005	B;B	0.18561	0.021;0.022	T	0.81174	-0.1053	10	0.27082	T	0.32	.	15.305	0.73985	0.0:0.0:0.0:1.0	.	46;46	Q9Y217;Q9Y217-2	MTMR6_HUMAN;.	A	46	ENSP00000443161:T46A;ENSP00000371221:T46A	ENSP00000371221:T46A	T	-	1	0	MTMR6	24746214	1.000000	0.71417	1.000000	0.80357	0.451000	0.32288	4.226000	0.58606	2.075000	0.62263	0.482000	0.46254	ACC		0.338	MTMR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044225.1	NM_004685		27	73	0	0	0	1	0	27	73					C	25848214	T	C	25848214	3	2	328	1	0	0	0	0	1	0	0	0	9947	1725	60	4	1781	4	MTMR6	13	25848214	Missense_Mutation	SNP	T	TCGA-KK-A7B1-01A-11D-A32B-08		25848214	89321664	17	16758											
SCFD1	23256	broad.mit.edu	37	chr14	31097463	31097463	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgtgcctcatattaaaaacaGcacaggagaaccagtatgga	16	8	9	8	0	1	1	1	0	0	1	1	3	1	2	2	2	4	2	2	2	6	3			TCGA-KK-A7B1-01A-11D-A32B-08	TCGA-KK-A7B1-11A-12D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c866d486-7422-4b92-89e2-f77933384d64	d47e6a60-b436-4ee5-b201-819ac01c600b	g.chr14:31097463G>A	ENST00000458591.2	+	2	337	c.110G>A	c.(109-111)aGc>aAc	p.S37N	SCFD1_ENST00000421551.3_Missense_Mutation_p.A8T|SCFD1_ENST00000541123.1_5'UTR|SCFD1_ENST00000544052.2_Intron|SCFD1_ENST00000396629.2_Intron	NM_016106.3	NP_057190.2	Q8WVM8	SCFD1_HUMAN	sec1 family domain containing 1	37					post-Golgi vesicle-mediated transport (GO:0006892)|protein transport (GO:0015031)|regulation of ER to Golgi vesicle-mediated transport (GO:0060628)|response to hypoxia (GO:0001666)|response to toxic substance (GO:0009636)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|vesicle docking involved in exocytosis (GO:0006904)	cis-Golgi network (GO:0005801)|endoplasmic reticulum (GO:0005783)|Golgi transport complex (GO:0017119)|Golgi-associated vesicle (GO:0005798)|plasma membrane (GO:0005886)	syntaxin binding (GO:0019905)			endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)	13	Hepatocellular(127;0.0877)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)	GBM - Glioblastoma multiforme(265;0.0181)		ATTAAAAACAGCACAGGAGAA	0.318																																						ENST00000458591.2																			0				endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)	13						c.(109-111)aGc>aAc		sec1 family domain containing 1							98	101	100					14																	31097463		2203	4299	6502	SO:0001583	missense	23256				post-Golgi vesicle-mediated transport|protein transport|regulation of ER to Golgi vesicle-mediated transport|response to toxin|retrograde vesicle-mediated transport, Golgi to ER|vesicle docking involved in exocytosis	cis-Golgi network|endoplasmic reticulum membrane|Golgi cisterna membrane|Golgi-associated vesicle|plasma membrane	syntaxin-5 binding	g.chr14:31097463G>A	AF110646	CCDS9639.1, CCDS45092.1, CCDS58308.1	14q12	2006-04-04	2004-01-15	2004-01-16	ENSG00000092108	ENSG00000092108			20726	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 163"	C14orf163			Standard	NM_016106		Approved	RA410, KIAA0917, STXBP1L2, SLY1	uc001wqm.2	Q8WVM8	OTTHUMG00000029420	ENST00000458591.2:c.110G>A	14.37:g.31097463G>A	ENSP00000390783:p.Ser37Asn					SCFD1_ENST00000544052.2_Intron|SCFD1_ENST00000421551.3_Missense_Mutation_p.A8T|SCFD1_ENST00000396629.2_Intron|SCFD1_ENST00000541123.1_5'UTR	p.S37N	NM_016106.3	NP_057190.2	Q8WVM8	SCFD1_HUMAN	LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)	GBM - Glioblastoma multiforme(265;0.0181)	2	337	+	Hepatocellular(127;0.0877)		37					A8K2Z5|B7Z4U7|B7Z594|O60754|O94990|Q7Z529|Q9BZI3|Q9UNL3|Q9Y6A8	Missense_Mutation	SNP	ENST00000458591.2	37	c.110G>A	CCDS9639.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.21|12.21	1.871056|1.871056	0.33069|0.33069	.|.	.|.	ENSG00000092108|ENSG00000092108	ENST00000421551|ENST00000458591;ENST00000557076	D|T;T	0.82984|0.29142	-1.67|1.67;1.58	5.54|5.54	4.46|4.46	0.54185|0.54185	.|.	.|0.100816	.|0.64402	.|D	.|0.000004	T|T	0.16128|0.16128	0.0388|0.0388	N|N	0.08118|0.08118	0|0	0.80722|0.80722	D|D	1|1	P|B	0.35527|0.02656	0.507|0.0	B|B	0.30495|0.04013	0.116|0.001	T|T	0.08066|0.08066	-1.0740|-1.0740	9|10	0.29301|0.18276	T|T	0.29|0.48	-25.2101|-25.2101	14.3584|14.3584	0.66752|0.66752	0.0837:0.0:0.9163:0.0|0.0837:0.0:0.9163:0.0	.|.	8|37	B7Z738|Q8WVM8	.|SCFD1_HUMAN	T|N	8|37;12	ENSP00000388078:A8T|ENSP00000390783:S37N;ENSP00000450755:S12N	ENSP00000388078:A8T|ENSP00000309417:S45N	A|S	+|+	1|2	0|0	SCFD1|SCFD1	30167214|30167214	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.962000|0.962000	0.63368|0.63368	4.551000|4.551000	0.60740|0.60740	2.601000|2.601000	0.87937|0.87937	0.655000|0.655000	0.94253|0.94253	GCA|AGC		0.318	SCFD1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276612.3	NM_182835		15	65	0	0	0	1	0	15	65					A	31097463	G	A	31097463	3	1	328	1	0	0	0	0	1	0	0	0	13889	971	34	3	116	3	SCFD1	14	31097463	Missense_Mutation	SNP	G	TCGA-KK-A7B1-01A-11D-A32B-08		31097463	76252077	18	16759											
RTF1	23168	broad.mit.edu	37	chr15	41769659	41769659	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tccctcttaccccacagttaCatcaaccagcggaaccggga	11	7	7	16	2	2	0	1	0	1	0	3	2	3	2	5	2	5	1	5	2	4	2			TCGA-KK-A7B1-01A-11D-A32B-08	TCGA-KK-A7B1-11A-12D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c866d486-7422-4b92-89e2-f77933384d64	d47e6a60-b436-4ee5-b201-819ac01c600b	g.chr15:41769659C>T	ENST00000389629.4	+	14	1698	c.1686C>T	c.(1684-1686)taC>taT	p.Y562Y		NM_015138.4	NP_055953.3	Q92541	RTF1_HUMAN	Rtf1, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae)	562					DNA-templated transcription, initiation (GO:0006352)|endodermal cell fate commitment (GO:0001711)|histone H3-K4 trimethylation (GO:0080182)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|stem cell maintenance (GO:0019827)|Wnt signaling pathway (GO:0016055)	Cdc73/Paf1 complex (GO:0016593)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|single-stranded DNA binding (GO:0003697)			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1)	18		all_cancers(109;1.79e-19)|all_epithelial(112;8.18e-17)|Lung NSC(122;3.16e-11)|all_lung(180;8.14e-10)|Melanoma(134;0.0179)|Colorectal(260;0.0946)|Ovarian(310;0.143)		OV - Ovarian serous cystadenocarcinoma(18;1.15e-16)|GBM - Glioblastoma multiforme(113;1.81e-06)|BRCA - Breast invasive adenocarcinoma(123;0.119)		CCCACAGTTACATCAACCAGC	0.458																																						ENST00000389629.4																			0				central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1)	18						c.(1684-1686)taC>taT		Rtf1, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae)							114	109	111					15																	41769659		2203	4300	6503	SO:0001819	synonymous_variant	23168				histone modification|regulation of transcription, DNA-dependent|transcription initiation, DNA-dependent	nucleoplasm	protein binding|single-stranded DNA binding	g.chr15:41769659C>T	D87440	CCDS32200.2	15q14	2004-03-03	2005-07-20	2005-07-20	ENSG00000137815	ENSG00000137815			28996	protein-coding gene	gene with protein product		611633	"KIAA0252"	KIAA0252		15632063	Standard	NM_015138		Approved		uc001zny.3	Q92541	OTTHUMG00000133744	ENST00000389629.4:c.1686C>T	15.37:g.41769659C>T							p.Y562Y	NM_015138.4	NP_055953.3	Q92541	RTF1_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;1.15e-16)|GBM - Glioblastoma multiforme(113;1.81e-06)|BRCA - Breast invasive adenocarcinoma(123;0.119)	14	1698	+		all_cancers(109;1.79e-19)|all_epithelial(112;8.18e-17)|Lung NSC(122;3.16e-11)|all_lung(180;8.14e-10)|Melanoma(134;0.0179)|Colorectal(260;0.0946)|Ovarian(310;0.143)	562					Q96BX6	Silent	SNP	ENST00000389629.4	37	c.1686C>T	CCDS32200.2																																																																																				0.458	RTF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258111.1	NM_015138		22	64	0	0	0	1	0	22	64					T	41769659	C	T	41769659	2	4	328	1	0	0	0	0	0	0	0	1	13721	489	17	3		3	RTF1	15	41769659	Silent	SNP	C	TCGA-KK-A7B1-01A-11D-A32B-08		41769659	60761733	19	16760											
SLC12A1	6557	broad.mit.edu	37	chr15	48527104	48527104	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgcagaaaactttgggccacGcttcacaaagggtgaaggct	12	8	12	9	1	1	2	1	1	0	1	1	2	1	2	1	3	2	3	1	3	4	2	rs150258541		TCGA-KK-A7B1-01A-11D-A32B-08	TCGA-KK-A7B1-11A-12D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c866d486-7422-4b92-89e2-f77933384d64	d47e6a60-b436-4ee5-b201-819ac01c600b	g.chr15:48527104G>A	ENST00000558405.1	+	8	1132	c.1118G>A	c.(1117-1119)cGc>cAc	p.R373H	SLC12A1_ENST00000380993.3_Missense_Mutation_p.R373H|SLC12A1_ENST00000330289.6_Missense_Mutation_p.R373H|SLC12A1_ENST00000559723.1_3'UTR|SLC12A1_ENST00000396577.3_Missense_Mutation_p.R373H			Q13621	S12A1_HUMAN	solute carrier family 12 (sodium/potassium/chloride transporter), member 1	373					cell death (GO:0008219)|chemical homeostasis (GO:0048878)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|kidney development (GO:0001822)|potassium ion transport (GO:0006813)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	sodium:potassium:chloride symporter activity (GO:0008511)	p.R373H(1)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|prostate(2)|skin(1)	59		all_lung(180;0.00219)		all cancers(107;1.76e-09)|GBM - Glioblastoma multiforme(94;1.48e-06)	Bumetanide(DB00887)|Chlormerodrin(DB00534)|Chlorthalidone(DB00310)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Potassium Chloride(DB00761)|Quinethazone(DB01325)|Torasemide(DB00214)|Trichlormethiazide(DB01021)	TTTGGGCCACGCTTCACAAAG	0.393													G|||	1	0.000199681	0	0	5008	,	,		17317	0		0.001	False		,,,				2504	0					ENST00000396577.3																			1	Substitution - Missense(1)	p.R373H(1)	large_intestine(1)	NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|prostate(2)|skin(1)	59						c.(1117-1119)cGc>cAc		solute carrier family 12 (sodium/potassium/chloride transporter), member 1	Bumetanide(DB00887)|Chlormerodrin(DB00534)|Chlorthalidone(DB00310)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Metolazone(DB00524)|Potassium Chloride(DB00761)|Torasemide(DB00214)|Trichlormethiazide(DB01021)	G	HIS/ARG,HIS/ARG	0,4396		0,0,2198	97	100	99		1118,1118	3.2	1	15	dbSNP_134	99	4,8590	3.7+/-12.6	0,4,4293	yes	missense,missense	SLC12A1	NM_000338.2,NM_001184832.1	29,29	0,4,6491	AA,AG,GG		0.0465,0.0,0.0308	benign,benign	373/1100,373/1100	48527104	4,12986	2198	4297	6495	SO:0001583	missense	6557				potassium ion transport|sodium ion transport	integral to membrane|membrane fraction	sodium:potassium:chloride symporter activity	g.chr15:48527104G>A		CCDS10129.2, CCDS53940.1	15q15-q21	2013-07-18	2013-07-18		ENSG00000074803	ENSG00000074803		"Solute carriers"	10910	protein-coding gene	gene with protein product		600839				8640224	Standard	NM_000338		Approved	NKCC2	uc010bem.3	Q13621	OTTHUMG00000131495	ENST00000558405.1:c.1118G>A	15.37:g.48527104G>A	ENSP00000453409:p.Arg373His					SLC12A1_ENST00000559723.1_3'UTR|SLC12A1_ENST00000558405.1_Missense_Mutation_p.R373H|SLC12A1_ENST00000330289.6_Missense_Mutation_p.R373H|SLC12A1_ENST00000380993.3_Missense_Mutation_p.R373H	p.R373H	NM_001184832.1	NP_001171761.1	Q13621	S12A1_HUMAN		all cancers(107;1.76e-09)|GBM - Glioblastoma multiforme(94;1.48e-06)	9	1333	+		all_lung(180;0.00219)	373					A8JYA2|E9PDW4	Missense_Mutation	SNP	ENST00000558405.1	37	c.1118G>A	CCDS10129.2	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	15.66	2.899566	0.52227	0.0	4.65E-4	ENSG00000074803	ENST00000428362;ENST00000380993;ENST00000396577;ENST00000330289	D;D;D	0.98747	-5.11;-5.11;-5.11	5.06	3.16	0.36331	Amino acid permease domain (1);	0.150320	0.56097	D	0.000021	D	0.92489	0.7615	N	0.02674	-0.535	0.24190	N	0.995552	B;B;B	0.29085	0.02;0.232;0.126	B;B;B	0.29598	0.029;0.104;0.099	D	0.88249	0.2915	10	0.87932	D	0	.	5.3133	0.15843	0.4013:0.0:0.5987:0.0	.	373;373;373	Q8IUN5;E9PDW4;Q13621	.;.;S12A1_HUMAN	H	186;373;373;373	ENSP00000370381:R373H;ENSP00000379822:R373H;ENSP00000331550:R373H	ENSP00000331550:R373H	R	+	2	0	SLC12A1	46314396	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	2.706000	0.47135	1.270000	0.44297	0.467000	0.42956	CGC		0.393	SLC12A1-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417131.1			5	47	0	0	0	1	0	5	47					A	48527104	G	A	48527104	3	1	328	1	0	0	0	0	1	0	0	0	14382	1087	38	1	1248	1	SLC12A1	15	48527104	Missense_Mutation	SNP	G	TCGA-KK-A7B1-01A-11D-A32B-08	6757445	48527104	54004288	20	16761											
BTBD12	84464	broad.mit.edu	37	chr16	3639059	3639059	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagcgcttggcatctgggccGgaggaggggtctctggaggc	5	7	19	10	2	2	0	0	0	2	0	3	3	2	3	1	8	1	2	1	8	0	1	rs149362820	byFrequency	TCGA-KK-A7B1-01A-11D-A32B-08	TCGA-KK-A7B1-11A-12D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c866d486-7422-4b92-89e2-f77933384d64	d47e6a60-b436-4ee5-b201-819ac01c600b	g.chr16:3639059G>A	ENST00000294008.3	-	12	5220	c.4580C>T	c.(4579-4581)cCg>cTg	p.P1527L		NM_032444.2	NP_115820.2	Q8IY92	SLX4_HUMAN	SLX4 structure-specific endonuclease subunit	1527	Interaction with MUS81.|Interaction with PLK1 and TERF2-TERF2IP.				DNA catabolic process, endonucleolytic (GO:0000737)|DNA double-strand break processing involved in repair via single-strand annealing (GO:0010792)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|double-strand break repair via homologous recombination (GO:0000724)|nucleotide-excision repair (GO:0006289)|positive regulation of catalytic activity (GO:0043085)|response to intra-S DNA damage checkpoint signaling (GO:0072429)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|Slx1-Slx4 complex (GO:0033557)	5'-flap endonuclease activity (GO:0017108)|enzyme activator activity (GO:0008047)			breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	76						CATCTGGGCCGGAGGAGGGGT	0.622								Direct reversal of damage																														ENST00000294008.3																			0				breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	76						c.(4579-4581)cCg>cTg	Direct reversal of damage	SLX4 structure-specific endonuclease subunit		G	LEU/PRO	1,4393	2.1+/-5.4	0,1,2196	78	92	87		4580	-11.1	0	16	dbSNP_134	87	0,8600		0,0,4300	no	missense	SLX4	NM_032444.2	98	0,1,6496	AA,AG,GG		0.0,0.0228,0.0077	benign	1527/1835	3639059	1,12993	2197	4300	6497	SO:0001583	missense	84464				DNA double-strand break processing involved in repair via single-strand annealing|double-strand break repair via homologous recombination|nucleotide-excision repair	Slx1-Slx4 complex	enzyme activator activity|protein binding	g.chr16:3639059G>A	AB058687	CCDS10506.2	16p13.3	2014-09-17	2013-06-05	2010-09-13	ENSG00000188827	ENSG00000188827		"Fanconi anemia, complementation groups", "BTB/POZ domain containing"	23845	protein-coding gene	gene with protein product	"Fanconi anemia, complementation group P"	613278	"BTB (POZ) domain containing 12", "SLX4 structure-specific endonuclease subunit homolog (S. cerevisiae)"	BTBD12		11347906, 19595721	Standard	NM_032444		Approved	KIAA1784, KIAA1987, FANCP	uc002cvp.2	Q8IY92	OTTHUMG00000074089	ENST00000294008.3:c.4580C>T	16.37:g.3639059G>A	ENSP00000294008:p.Pro1527Leu						p.P1527L	NM_032444.2	NP_115820.2	Q8IY92	SLX4_HUMAN			12	5220	-			1527			Interaction with MUS81.|Interaction with PLK1 and TERF2-TERF2IP.		Q69YT8|Q8TF15|Q96JP1	Missense_Mutation	SNP	ENST00000294008.3	37	c.4580C>T	CCDS10506.2	.	.	.	.	.	.	.	.	.	.	G	9.261	1.043181	0.19748	2.28E-4	0.0	ENSG00000188827	ENST00000294008	T	0.00832	5.64	5.56	-11.1	0.00147	.	1.094360	0.07130	N	0.845311	T	0.00356	0.0011	N	0.03154	-0.405	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.47837	-0.9086	10	0.02654	T	1	.	4.1615	0.10285	0.2232:0.2975:0.3825:0.0968	.	1527	Q8IY92	SLX4_HUMAN	L	1527	ENSP00000294008:P1527L	ENSP00000294008:P1527L	P	-	2	0	SLX4	3579060	0.008000	0.16893	0.000000	0.03702	0.000000	0.00434	0.081000	0.14823	-2.737000	0.00381	-1.140000	0.01884	CCG		0.622	SLX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157301.3	NM_032444		4	190	0	0	0	1	0	4	190					A	3639059	G	A	3639059	3	1	328	1	0	0	0	0	1	0	0	0	1540	1116	39	2	940	2	BTBD12	16	3639059	Missense_Mutation	SNP	G	TCGA-KK-A7B1-01A-11D-A32B-08		3639059	86715694	21	16762											
SLFN5	162394	broad.mit.edu	37	chr17	33592770	33592770	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttgtgttggacagtgtctgtCgattttcaggcctggaaaga	8	14	13	6	1	2	1	1	0	1	1	3	4	2	3	1	3	0	1	1	3	1	4	rs146569957		TCGA-KK-A7B1-01A-11D-A32B-08	TCGA-KK-A7B1-11A-12D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c866d486-7422-4b92-89e2-f77933384d64	d47e6a60-b436-4ee5-b201-819ac01c600b	g.chr17:33592770C>T	ENST00000299977.4	+	5	2687	c.2539C>T	c.(2539-2541)Cga>Tga	p.R847*	SLFN5_ENST00000542451.1_3'UTR	NM_144975.3	NP_659412.3	Q08AF3	SLFN5_HUMAN	schlafen family member 5	847					cell differentiation (GO:0030154)	nucleus (GO:0005634)	ATP binding (GO:0005524)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(8)|liver(2)|lung(6)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)	34		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0191)		CAGTGTCTGTCGATTTTCAGG	0.493																																						ENST00000299977.4																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(8)|liver(2)|lung(6)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)	34						c.(2539-2541)Cga>Tga		schlafen family member 5							81	76	77					17																	33592770		2203	4300	6503	SO:0001587	stop_gained	162394				cell differentiation		ATP binding	g.chr17:33592770C>T	BX647942	CCDS32619.1	17q12	2006-04-05				ENSG00000166750			28286	protein-coding gene	gene with protein product		614952				9846487	Standard	NM_144975		Approved	MGC19764	uc002hjf.4	Q08AF3		ENST00000299977.4:c.2539C>T	17.37:g.33592770C>T	ENSP00000299977:p.Arg847*					SLFN5_ENST00000542451.1_3'UTR	p.R847*	NM_144975.3	NP_659412.3	Q08AF3	SLFN5_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0191)	5	2687	+		Ovarian(249;0.17)	847					Q08AF2|Q8WU54|Q96A82	Nonsense_Mutation	SNP	ENST00000299977.4	37	c.2539C>T	CCDS32619.1	.	.	.	.	.	.	.	.	.	.	c	37	6.464966	0.97590	.	.	ENSG00000166750	ENST00000299977	.	.	.	3.28	1.07	0.20283	.	0.282623	0.19067	N	0.123584	.	.	.	.	.	.	0.21719	N	0.999573	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	7.6604	0.28400	0.4591:0.5408:0.0:0.0	.	.	.	.	X	847	.	ENSP00000299977:R847X	R	+	1	2	SLFN5	30616883	0.000000	0.05858	0.256000	0.24389	0.509000	0.34042	0.076000	0.14712	0.167000	0.19631	0.655000	0.94253	CGA		0.493	SLFN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448649.2	NM_144975		7	63	0	0	0	1	0	7	63					T	33592770	C	T	33592770	4	4	328	1	0	0	0	0	0	1	0	0	14737	876	31	2	2553	2	SLFN5	17	33592770	Nonsense_Mutation	SNP	C	TCGA-KK-A7B1-01A-11D-A32B-08		33592770	47602440	22	16763											
KRT12	3859	broad.mit.edu	37	chr17	39021060	39021060	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctgccctgtctgactcacatCctcgtggttcttcttcatgt	4	16	7	14	1	5	1	2	1	3	0	7	1	6	1	2	1	1	1	2	1	0	3			TCGA-KK-A7B1-01A-11D-A32B-08	TCGA-KK-A7B1-11A-12D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c866d486-7422-4b92-89e2-f77933384d64	d47e6a60-b436-4ee5-b201-819ac01c600b	g.chr17:39021060C>A	ENST00000251643.4	-	3	828	c.805G>T	c.(805-807)Gat>Tat	p.D269Y	RP5-1110E20.1_ENST00000579136.1_RNA	NM_000223.3	NP_000214.1	Q99456	K1C12_HUMAN	keratin 12	269	Coil 1B.|Rod.				visual perception (GO:0007601)	extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(2)	15		Breast(137;0.000301)			Griseofulvin(DB00400)	TGACTCACATCCTCGTGGTTC	0.507																																						ENST00000251643.4																			0				central_nervous_system(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(2)	15						c.(805-807)Gat>Tat		keratin 12							110	110	110					17																	39021060		2203	4300	6503	SO:0001583	missense	3859				visual perception	intermediate filament	structural molecule activity	g.chr17:39021060C>A		CCDS11378.1	17q21.2	2013-06-20	2008-08-01		ENSG00000187242	ENSG00000187242		"-", "Intermediate filaments type I, keratins (acidic)"	6414	protein-coding gene	gene with protein product	"Meesmann corneal dystrophy"	601687				9171831, 16831889	Standard	NM_000223		Approved	K12	uc002hvk.2	Q99456	OTTHUMG00000133369	ENST00000251643.4:c.805G>T	17.37:g.39021060C>A	ENSP00000251643:p.Asp269Tyr						p.D269Y	NM_000223.3	NP_000214.1	Q99456	K1C12_HUMAN			3	828	-		Breast(137;0.000301)	269			Coil 1B.|Rod.		B2R9E0	Missense_Mutation	SNP	ENST00000251643.4	37	c.805G>T	CCDS11378.1	.	.	.	.	.	.	.	.	.	.	C	16.75	3.208733	0.58343	.	.	ENSG00000187242	ENST00000251643	T	0.80393	-1.37	5.96	5.96	0.96718	Filament (1);	0.152024	0.30584	N	0.009310	T	0.80691	0.4671	L	0.55213	1.73	0.37334	D	0.91011	P	0.43938	0.822	B	0.41174	0.349	D	0.84518	0.0626	10	0.87932	D	0	.	20.422	0.99049	0.0:1.0:0.0:0.0	.	269	Q99456	K1C12_HUMAN	Y	269	ENSP00000251643:D269Y	ENSP00000251643:D269Y	D	-	1	0	KRT12	36274586	1.000000	0.71417	0.997000	0.53966	0.166000	0.22503	4.964000	0.63701	2.832000	0.97577	0.655000	0.94253	GAT		0.507	KRT12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257214.2	NM_000223		18	106	1	0	2.94398e-08	1	3.32385e-08	18	106					A	39021060	C	A	39021060	3	1	328	1	0	0	0	0	1	0	0	0	8449	855	30	5	703	5	KRT12	17	39021060	Missense_Mutation	SNP	C	TCGA-KK-A7B1-01A-11D-A32B-08	5428290	39021060	42174150	23	16764											
JUP	3728	broad.mit.edu	37	chr17	39915087	39915087	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	agcggggcatggttggctggGcacagggccagattcctgat	7	8	17	9	1	0	2	0	1	0	1	1	2	1	2	2	6	1	4	2	6	0	2			TCGA-KK-A7B1-01A-11D-A32B-08	TCGA-KK-A7B1-11A-12D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c866d486-7422-4b92-89e2-f77933384d64	d47e6a60-b436-4ee5-b201-819ac01c600b	g.chr17:39915087G>A	ENST00000393931.3	-	9	1651	c.1533C>T	c.(1531-1533)tgC>tgT	p.C511C	JUP_ENST00000310706.5_Silent_p.C511C|JUP_ENST00000393930.1_Silent_p.C511C|JUP_ENST00000540235.1_Intron	NM_002230.2	NP_002221.1	P14923	PLAK_HUMAN	junction plakoglobin	511					adherens junction organization (GO:0034332)|atrioventricular valve morphogenesis (GO:0003181)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cell junction assembly (GO:0034329)|cell migration (GO:0016477)|cell morphogenesis (GO:0000902)|cell-cell junction organization (GO:0045216)|cellular response to indole-3-methanol (GO:0071681)|cytoskeletal anchoring at plasma membrane (GO:0007016)|desmosome assembly (GO:0002159)|detection of mechanical stimulus (GO:0050982)|ectoderm development (GO:0007398)|endothelial cell-cell adhesion (GO:0071603)|establishment of protein localization to plasma membrane (GO:0090002)|gastrulation (GO:0007369)|morphogenesis of embryonic epithelium (GO:0016331)|negative regulation of heart induction by canonical Wnt signaling pathway (GO:0003136)|negative regulation of Wnt signaling pathway involved in heart development (GO:0003308)|nervous system development (GO:0007399)|oocyte development (GO:0048599)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein heterooligomerization (GO:0051291)|regulation of cell proliferation (GO:0042127)|regulation of heart rate by cardiac conduction (GO:0086091)|single organismal cell-cell adhesion (GO:0016337)|skin development (GO:0043588)|ventricular cardiac muscle cell action potential (GO:0086005)	actin cytoskeleton (GO:0015629)|apicolateral plasma membrane (GO:0016327)|basolateral plasma membrane (GO:0016323)|catenin complex (GO:0016342)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|gamma-catenin-TCF7L2 complex (GO:0071665)|intercalated disc (GO:0014704)|intermediate filament (GO:0005882)|lateral plasma membrane (GO:0016328)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein-DNA complex (GO:0032993)|Z disc (GO:0030018)|zonula adherens (GO:0005915)	alpha-catenin binding (GO:0045294)|cadherin binding (GO:0045296)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|structural constituent of cell wall (GO:0005199)|structural molecule activity (GO:0005198)|transcription coactivator activity (GO:0003713)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)	23		Breast(137;0.000162)	BRCA - Breast invasive adenocarcinoma(4;0.233)	BRCA - Breast invasive adenocarcinoma(366;0.15)		GGTTGGCTGGGCACAGGGCCA	0.622																																					Colon(16;42 520 6044 17852 28530)	ENST00000393931.3																			0				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)	23						c.(1531-1533)tgC>tgT		junction plakoglobin							28	30	29					17																	39915087		2203	4300	6503	SO:0001819	synonymous_variant	3728				adherens junction organization|atrioventricular valve morphogenesis|cell migration|cell morphogenesis|cellular response to indole-3-methanol|cytoskeletal anchoring at plasma membrane|detection of mechanical stimulus|ectoderm development|endothelial cell-cell adhesion|gastrulation|morphogenesis of embryonic epithelium|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of Wnt receptor signaling pathway involved in heart development|nervous system development|oocyte development|positive regulation of protein import into nucleus|positive regulation of sequence-specific DNA binding transcription factor activity|skin development	actin cytoskeleton|Axin-APC-beta-catenin-GSK3B complex|basolateral plasma membrane|catenin complex|desmosome|fascia adherens|gamma-catenin-TCF7L2 complex|internal side of plasma membrane|nucleus|protein-DNA complex|Z disc|zonula adherens	alpha-catenin binding|cadherin binding|protein homodimerization activity|protein kinase binding|protein phosphatase binding|RPTP-like protein binding|specific RNA polymerase II transcription factor activity|transcription coactivator activity	g.chr17:39915087G>A	AF233882	CCDS11407.1	17q21	2014-09-17	2004-08-09		ENSG00000173801	ENSG00000173801		"Armadillo repeat containing"	6207	protein-coding gene	gene with protein product		173325	"catenin (cadherin-associated protein), gamma 80kDa"	CTNNG		1889810, 7604000	Standard	NM_021991		Approved	DP3, PDGB, PKGB, DPIII	uc002hxs.2	P14923	OTTHUMG00000133494	ENST00000393931.3:c.1533C>T	17.37:g.39915087G>A						JUP_ENST00000310706.5_Silent_p.C511C|JUP_ENST00000393930.1_Silent_p.C511C|JUP_ENST00000540235.1_Intron	p.C511C	NM_002230.2	NP_002221.1	P14923	PLAK_HUMAN	BRCA - Breast invasive adenocarcinoma(4;0.233)	BRCA - Breast invasive adenocarcinoma(366;0.15)	9	1651	-		Breast(137;0.000162)	511					Q15093|Q15151|Q7L3S5|Q86W21|Q9BWC4|Q9HCX9	Silent	SNP	ENST00000393931.3	37	c.1533C>T	CCDS11407.1																																																																																				0.622	JUP-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257406.1			3	11	0	0	0	1	0	3	11					A	39915087	G	A	39915087	2	1	328	1	0	0	0	0	0	0	0	1	7972	1195	42	3		3	JUP	17	39915087	Silent	SNP	G	TCGA-KK-A7B1-01A-11D-A32B-08	894027	39915087	41280123	24	16765											
C17orf47	284083	broad.mit.edu	37	chr17	56620062	56620062	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ctgtggcacttcactcagtgGtgcccaacttggaaactcct	8	11	9	13	0	2	0	2	0	0	0	3	1	3	1	2	3	3	1	2	3	2	2			TCGA-KK-A7B1-01A-11D-A32B-08	TCGA-KK-A7B1-11A-12D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c866d486-7422-4b92-89e2-f77933384d64	d47e6a60-b436-4ee5-b201-819ac01c600b	g.chr17:56620062G>A	ENST00000321691.3	-	1	1667	c.1486C>T	c.(1486-1488)Cca>Tca	p.P496S	RP11-112H10.4_ENST00000578022.1_RNA|RP11-112H10.4_ENST00000580589.1_RNA|SEPT4_ENST00000412945.3_5'Flank|SEPT4_ENST00000457347.2_5'Flank|RP11-112H10.4_ENST00000580769.1_RNA	NM_001038704.2	NP_001033793	Q8NEP4	CQ047_HUMAN	chromosome 17 open reading frame 47	496										NS(1)|breast(2)|endometrium(1)|kidney(4)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	24	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TCACTCAGTGGTGCCCAACTT	0.493																																						ENST00000321691.3																			0				NS(1)|breast(2)|endometrium(1)|kidney(4)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	24						c.(1486-1488)Cca>Tca		chromosome 17 open reading frame 47							251	253	253					17																	56620062		2203	4300	6503	SO:0001583	missense	284083							g.chr17:56620062G>A		CCDS32691.1	17q23.2	2012-10-11			ENSG00000181013	ENSG00000181013			26844	protein-coding gene	gene with protein product							Standard	NM_001038704		Approved	FLJ40121	uc002iwq.2	Q8NEP4	OTTHUMG00000179244	ENST00000321691.3:c.1486C>T	17.37:g.56620062G>A	ENSP00000354874:p.Pro496Ser					RP11-112H10.4_ENST00000580769.1_RNA|RP11-112H10.4_ENST00000578022.1_RNA|RP11-112H10.4_ENST00000580589.1_RNA	p.P496S	NM_001038704.2	NP_001033793.2	Q8NEP4	CQ047_HUMAN			1	1667	-	Medulloblastoma(34;0.127)|all_neural(34;0.237)		496					Q8N821	Missense_Mutation	SNP	ENST00000321691.3	37	c.1486C>T	CCDS32691.1	.	.	.	.	.	.	.	.	.	.	G	2.887	-0.230423	0.05983	.	.	ENSG00000181013	ENST00000321691	T	0.31510	1.49	5.6	0.954	0.19595	.	0.428023	0.22489	N	0.059400	T	0.17109	0.0411	L	0.29908	0.895	0.09310	N	1	P	0.41393	0.748	B	0.40101	0.319	T	0.06899	-1.0801	10	0.30078	T	0.28	-5.9125	3.1278	0.06413	0.3059:0.0:0.5045:0.1896	.	496	Q8NEP4	CQ047_HUMAN	S	496	ENSP00000354874:P496S	ENSP00000354874:P496S	P	-	1	0	C17orf47	53975061	0.000000	0.05858	0.114000	0.21550	0.051000	0.14879	0.488000	0.22371	0.741000	0.32674	-0.258000	0.10820	CCA		0.493	C17orf47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445443.1	NM_001038704		17	330	0	0	0	1	0	17	330					A	56620062	G	A	56620062	3	1	328	1	0	0	0	0	1	0	0	0	1858	1261	44	3	234	3	C17orf47	17	56620062	Missense_Mutation	SNP	G	TCGA-KK-A7B1-01A-11D-A32B-08	16704975	56620062	24575148	25	16766											
HEATR6	63897	broad.mit.edu	37	chr17	58143748	58143748	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaactttagcttggtaagacCtttcataaccaagagaaaaa	17	10	7	7	0	1	2	1	0	0	2	1	4	1	2	2	1	3	2	2	1	7	6			TCGA-KK-A7B1-01A-11D-A32B-08	TCGA-KK-A7B1-11A-12D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c866d486-7422-4b92-89e2-f77933384d64	d47e6a60-b436-4ee5-b201-819ac01c600b	g.chr17:58143748C>T	ENST00000184956.6	-	9	1255		c.e9-1		HEATR6_ENST00000585976.1_Splice_Site	NM_022070.4	NP_071353.4	Q6AI08	HEAT6_HUMAN	HEAT repeat containing 6								poly(A) RNA binding (GO:0044822)			NS(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	44	all_cancers(5;2.25e-13)|Breast(5;4.84e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		BRCA - Breast invasive adenocarcinoma(1;5.93e-19)|Epithelial(12;7.59e-12)|all cancers(12;1.26e-10)			TTGGTAAGACCTTTCATAACC	0.284																																						ENST00000184956.6																			0				NS(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	44						c.e9-1		HEAT repeat containing 6							34	36	35					17																	58143748		2202	4299	6501	SO:0001630	splice_region_variant	63897						binding	g.chr17:58143748C>T	BX640819	CCDS11623.1	17q23.2	2007-05-01				ENSG00000068097			24076	protein-coding gene	gene with protein product	"amplified in breast cancer 1"					12755490	Standard	NM_022070		Approved	ABC1, FLJ22087	uc002iyk.1	Q6AI08		ENST00000184956.6:c.1239-1G>A	17.37:g.58143748C>T						HEATR6_ENST00000585976.1_Splice_Site		NM_022070.4	NP_071353.4	Q6AI08	HEAT6_HUMAN	BRCA - Breast invasive adenocarcinoma(1;5.93e-19)|Epithelial(12;7.59e-12)|all cancers(12;1.26e-10)		9	1255	-	all_cancers(5;2.25e-13)|Breast(5;4.84e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)							B3KXP3|Q6MZX1|Q6MZY2|Q8TDM9|Q9H6B3|Q9H6M7	Splice_Site	SNP	ENST00000184956.6	37		CCDS11623.1	.	.	.	.	.	.	.	.	.	.	.	23.1	4.371763	0.82573	.	.	ENSG00000068097	ENST00000184956;ENST00000393017	.	.	.	5.81	5.81	0.92471	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.5152	0.95160	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	HEATR6	55498530	1.000000	0.71417	1.000000	0.80357	0.931000	0.56810	7.067000	0.76741	2.937000	0.99478	0.650000	0.86243	.		0.284	HEATR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449165.1	NM_022070	Intron	5	19	0	0	0	1	0	5	19					T	58143748	C	T	58143748	5	4	328	1	0	0	0	0	0	0	1	0	7033	695	24	3	2355	3	HEATR6	17	58143748	Splice_Site	SNP	C	TCGA-KK-A7B1-01A-11D-A32B-08	1523686	58143748	23051462	26	16767											
GH1	2688	broad.mit.edu	37	chr17	61995130	61995130	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccaccctcacccccatcagcGtttggatgccttcctctagg	6	10	7	18	1	3	0	2	0	1	0	4	1	4	1	6	2	2	1	6	2	1	3			TCGA-KK-A7B1-01A-11D-A32B-08	TCGA-KK-A7B1-11A-12D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c866d486-7422-4b92-89e2-f77933384d64	d47e6a60-b436-4ee5-b201-819ac01c600b	g.chr17:61995130G>A	ENST00000323322.5	-	4	488	c.446C>T	c.(445-447)aCg>aTg	p.T149M	GH1_ENST00000342364.4_Intron|GH1_ENST00000458650.2_Missense_Mutation_p.T134M|CSHL1_ENST00000392824.4_Intron|GH1_ENST00000351388.4_Missense_Mutation_p.T109M	NM_000515.3	NP_000506.2	P01241	SOMA_HUMAN	growth hormone 1	149					bone maturation (GO:0070977)|glucose transport (GO:0015758)|growth hormone receptor signaling pathway (GO:0060396)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|positive regulation of activation of JAK2 kinase activity (GO:0010535)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|response to estradiol (GO:0032355)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	growth factor activity (GO:0008083)|growth hormone receptor binding (GO:0005131)|metal ion binding (GO:0046872)|prolactin receptor binding (GO:0005148)			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)	19						CCCCATCAGCGTTTGGATGCC	0.567																																						ENST00000323322.5																			0				breast(3)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)	19						c.(445-447)aCg>aTg		growth hormone 1							64	66	65					17																	61995130		2203	4300	6503	SO:0001583	missense	2688				glucose transport|growth hormone receptor signaling pathway|JAK-STAT cascade|positive regulation of activation of JAK2 kinase activity|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of MAP kinase activity|positive regulation of multicellular organism growth|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|response to estradiol stimulus	extracellular space	growth factor activity|growth hormone receptor binding|hormone activity|metal ion binding|prolactin receptor binding	g.chr17:61995130G>A	M13438	CCDS11653.1, CCDS11654.1, CCDS45760.1	17q22-q24	2014-01-30				ENSG00000259384		"Endogenous ligands"	4261	protein-coding gene	gene with protein product	"pituitary growth hormone", "somatotropin"	139250				6306568	Standard	XM_005257218		Approved	GH-N, GHN, GH, hGH-N	uc002jdj.3	P01241		ENST00000323322.5:c.446C>T	17.37:g.61995130G>A	ENSP00000312673:p.Thr149Met					GH1_ENST00000458650.2_Missense_Mutation_p.T134M|CSHL1_ENST00000392824.4_Intron|GH1_ENST00000351388.4_Missense_Mutation_p.T109M|GH1_ENST00000342364.4_Intron	p.T149M	NM_000515.3	NP_000506.2	P01241	SOMA_HUMAN			4	488	-			149					A6NEF6|Q14405|Q16631|Q5EB53|Q9HBZ1|Q9UMJ7|Q9UNL5	Missense_Mutation	SNP	ENST00000323322.5	37	c.446C>T	CCDS11653.1	.	.	.	.	.	.	.	.	.	.	g	12.26	1.885264	0.33255	.	.	ENSG00000204414	ENST00000323322;ENST00000458650;ENST00000351388	D;D;D	0.90844	-2.2;-2.2;-2.74	2.86	2.86	0.33363	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	0.335977	0.30820	N	0.008804	D	0.92414	0.7592	M	0.76727	2.345	0.80722	D	1	P;D;D	0.76494	0.905;0.999;0.999	B;P;P	0.55011	0.223;0.766;0.766	D	0.92625	0.6111	10	0.62326	D	0.03	.	11.5436	0.50679	0.0:0.0:1.0:0.0	.	109;149;134	A6NEF6;P01241;B1A4G7	.;SOMA_HUMAN;.	M	149;134;109	ENSP00000312673:T149M;ENSP00000408486:T134M;ENSP00000343791:T109M	ENSP00000312673:T149M	T	-	2	0	GH1	59348862	1.000000	0.71417	0.815000	0.32552	0.069000	0.16628	4.820000	0.62671	1.594000	0.50039	0.298000	0.19748	ACG		0.567	GH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417708.1	NM_000515		5	79	0	0	0	1	0	5	79					A	61995130	G	A	61995130	3	1	328	1	0	0	0	0	1	0	0	0	6367	1145	40	1	215	1	GH1	17	61995130	Missense_Mutation	SNP	G	TCGA-KK-A7B1-01A-11D-A32B-08	3851382	61995130	19200080	27	16768											
ZCCHC5	203430	broad.mit.edu	37	chrX	77912605	77912605	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ataagcggcctttgtgccaaCggacccattcagcttcactg	9	10	9	13	2	2	0	2	0	0	0	2	1	2	1	3	2	4	1	3	2	2	4	rs369311059		TCGA-KK-A7B1-01A-11D-A32B-08	TCGA-KK-A7B1-11A-12D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c866d486-7422-4b92-89e2-f77933384d64	d47e6a60-b436-4ee5-b201-819ac01c600b	g.chrX:77912605C>T	ENST00000321110.1	-	2	1608	c.1313G>A	c.(1312-1314)cGt>cAt	p.R438H		NM_152694.2	NP_689907.1	Q8N8U3	ZCHC5_HUMAN	zinc finger, CCHC domain containing 5	438							nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)|prostate(1)|skin(1)	37						TTTGTGCCAACGGACCCATTC	0.547																																						ENST00000321110.1																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)|prostate(1)|skin(1)	37						c.(1312-1314)cGt>cAt		zinc finger, CCHC domain containing 5		C	HIS/ARG	2,3833		0,2,1630,571	136	103	114		1313	-2.2	0	X		114	0,6728		0,0,2428,1872	no	missense	ZCCHC5	NM_152694.2	29	0,2,4058,2443	TT,TC,CC,C		0.0,0.0522,0.0189	benign	438/476	77912605	2,10561	2203	4300	6503	SO:0001583	missense	203430						nucleic acid binding|zinc ion binding	g.chrX:77912605C>T	AK096184	CCDS14440.1	Xq13.3	2008-02-05			ENSG00000179300	ENSG00000179300		"Zinc fingers, CCHC domain containing"	22997	protein-coding gene	gene with protein product						15716091, 16093683	Standard	NM_152694		Approved	FLJ38865, Mar3, Mart3, ZHC5	uc004edc.1	Q8N8U3	OTTHUMG00000021892	ENST00000321110.1:c.1313G>A	X.37:g.77912605C>T	ENSP00000316794:p.Arg438His						p.R438H	NM_152694.2	NP_689907.1	Q8N8U3	ZCHC5_HUMAN			2	1608	-			438					B2RMZ0|Q5JQE9	Missense_Mutation	SNP	ENST00000321110.1	37	c.1313G>A	CCDS14440.1	.	.	.	.	.	.	.	.	.	.	C	0.038	-1.298223	0.01364	5.22E-4	0.0	ENSG00000179300	ENST00000321110	T	0.25749	1.78	3.2	-2.2	0.06994	.	.	.	.	.	T	0.16385	0.0394	L	0.29908	0.895	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.21109	-1.0255	9	0.44086	T	0.13	.	8.1248	0.30992	0.0:0.4658:0.0:0.5342	.	438	Q8N8U3	ZCHC5_HUMAN	H	438	ENSP00000316794:R438H	ENSP00000316794:R438H	R	-	2	0	ZCCHC5	77799261	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.973000	0.03798	-0.802000	0.04421	-1.585000	0.00851	CGT		0.547	ZCCHC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057319.1	NM_152694		9	23	0	0	0	1	0	9	23					T	77912605	C	T	77912605	3	4	328	1	0	0	0	0	1	0	0	0	17588	536	19	1	118	1	ZCCHC5	23	77912605	Missense_Mutation	SNP	C	TCGA-KK-A7B1-01A-11D-A32B-08		77912605	77357955	28	16769											
PHF13	148479	broad.mit.edu	37	chr1	6680069	6680071	+	In_Frame_Del	DEL	GAA	GAA	-																															agaaagaaaacggacaagctGaagaagaagaagaagaggaa																										TCGA-KK-A7B2-01A-12D-A32B-08	TCGA-KK-A7B2-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	323679ff-5644-4826-9486-a60ba6b0431f	cf3e0850-c21c-4739-8085-7e278dded3cc	g.chr1:6680069_6680071delGAA	ENST00000377648.4	+	3	730_732	c.348_350delGAA	c.(346-351)ctgaag>ctg	p.K121del	PHF13_ENST00000495385.1_Intron	NM_153812.2	NP_722519.2	Q86YI8	PHF13_HUMAN	PHD finger protein 13	121					chromatin modification (GO:0016568)|chromosome segregation (GO:0007059)|mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)			endometrium(3)|large_intestine(1)|lung(3)	7	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;1.46e-33)|all_epithelial(116;9.26e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Breast(487;0.000353)|Renal(390;0.0007)|Colorectal(325;0.00104)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443)		Colorectal(212;1.19e-07)|COAD - Colon adenocarcinoma(227;1.3e-05)|Kidney(185;4.88e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000501)|KIRC - Kidney renal clear cell carcinoma(229;0.000871)|STAD - Stomach adenocarcinoma(132;0.0165)|READ - Rectum adenocarcinoma(331;0.0642)		cggacaagctgaagaagaagaag	0.576																																						ENST00000377648.4																			0				endometrium(3)|large_intestine(1)|lung(3)	7						c.(346-351)ctg>ct		PHD finger protein 13				54,4212		2,50,2081						5.5	1			49	96,8154		1,94,4030	no	coding	PHF13	NM_153812.2		3,144,6111	A1A1,A1R,RR		1.1636,1.2658,1.1985				150,12366				SO:0001651	inframe_deletion	148479				cell division|chromatin modification|mitotic chromosome condensation	nucleoplasm	chromatin binding|methylated histone residue binding|zinc ion binding	g.chr1:6680069_6680071delGAA	AK027492	CCDS85.1	1p36.23	2013-01-28			ENSG00000116273	ENSG00000116273		"Zinc fingers, PHD-type"	22983	protein-coding gene	gene with protein product							Standard	NM_153812		Approved	MGC43399	uc001aob.4	Q86YI8	OTTHUMG00000001439	ENST00000377648.4:c.348_350delGAA	1.37:g.6680078_6680080delGAA	ENSP00000366876:p.Lys121del					PHF13_ENST00000495385.1_Intron	p.LK116del	NM_153812.2	NP_722519.2	Q86YI8	PHF13_HUMAN		Colorectal(212;1.19e-07)|COAD - Colon adenocarcinoma(227;1.3e-05)|Kidney(185;4.88e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000501)|KIRC - Kidney renal clear cell carcinoma(229;0.000871)|STAD - Stomach adenocarcinoma(132;0.0165)|READ - Rectum adenocarcinoma(331;0.0642)	3	730_732	+	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;1.46e-33)|all_epithelial(116;9.26e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Breast(487;0.000353)|Renal(390;0.0007)|Colorectal(325;0.00104)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443)	116					B3KUQ7|Q59FB6|Q5TH65|Q8N551|Q9UJP2	In_Frame_Del	DEL	ENST00000377648.4	37	c.348_350delGAA	CCDS85.1																																																																																				0.576	PHF13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004201.1	NM_153812		7	95						7	95	---	---	---	---	-	6680071	GAA	-	6680069	7	5	329	1	0	1	0	1	0	0	0	0	11824	1277	45	0	358	0	PHF13	1	6680069	In_Frame_Del	DEL	GAA	TCGA-KK-A7B2-01A-12D-A32B-08		6680069	242570552	1	16770											
ANGPTL7	10218	broad.mit.edu	37	chr1	11254545	11254545	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agggcaacctgcgctacgctGagtatagccactttgttttg	8	12	11	10	2	0	1	0	1	0	0	0	1	0	1	2	1	4	5	2	1	4	6			TCGA-KK-A7B2-01A-12D-A32B-08	TCGA-KK-A7B2-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	323679ff-5644-4826-9486-a60ba6b0431f	cf3e0850-c21c-4739-8085-7e278dded3cc	g.chr1:11254545G>A	ENST00000376819.3	+	4	939	c.700G>A	c.(700-702)Gag>Aag	p.E234K	ANGPTL7_ENST00000476934.1_Intron|MTOR_ENST00000361445.4_Intron	NM_021146.2	NP_066969.1	O43827	ANGL7_HUMAN	angiopoietin-like 7	234	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				response to oxidative stress (GO:0006979)	extracellular region (GO:0005576)				endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|skin(2)|stomach(1)	10	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.000818)|all_lung(284;0.00105)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.39e-06)|COAD - Colon adenocarcinoma(227;0.000244)|BRCA - Breast invasive adenocarcinoma(304;0.000294)|Kidney(185;0.000728)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0487)		GCGCTACGCTGAGTATAGCCA	0.522																																						ENST00000376819.3																			0				endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|skin(2)|stomach(1)	10						c.(700-702)Gag>Aag		angiopoietin-like 7							176	158	164					1																	11254545		2203	4300	6503	SO:0001583	missense	10218				response to oxidative stress|signal transduction	extracellular region	receptor binding	g.chr1:11254545G>A	Y16132	CCDS128.1	1p36	2013-02-06			ENSG00000171819	ENSG00000171819		"Fibrinogen C domain containing"	24078	protein-coding gene	gene with protein product						9727400, 11682471	Standard	NM_021146		Approved	CDT6, AngX	uc001ase.4	O43827	OTTHUMG00000002002	ENST00000376819.3:c.700G>A	1.37:g.11254545G>A	ENSP00000366015:p.Glu234Lys					ANGPTL7_ENST00000476934.1_Intron|MTOR_ENST00000361445.4_Intron	p.E234K	NM_021146.2	NP_066969.1	O43827	ANGL7_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.39e-06)|COAD - Colon adenocarcinoma(227;0.000244)|BRCA - Breast invasive adenocarcinoma(304;0.000294)|Kidney(185;0.000728)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0487)	4	939	+	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.000818)|all_lung(284;0.00105)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731)	234			Fibrinogen C-terminal.		B2R9B2|F1T0A6|Q4ZGK4	Missense_Mutation	SNP	ENST00000376819.3	37	c.700G>A	CCDS128.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.202589	0.79127	.	.	ENSG00000171819	ENST00000376819	T	0.76448	-1.02	5.67	4.7	0.59300	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (4);Fibrinogen, alpha/beta/gamma chain, C-terminal globular, subdomain 1 (1);	0.141105	0.64402	D	0.000008	T	0.67822	0.2934	L	0.33189	0.99	0.58432	D	0.999993	P	0.41475	0.751	B	0.40982	0.345	T	0.64141	-0.6477	10	0.12766	T	0.61	.	15.3149	0.74065	0.0:0.2202:0.7798:0.0	.	234	O43827	ANGL7_HUMAN	K	234	ENSP00000366015:E234K	ENSP00000366015:E234K	E	+	1	0	ANGPTL7	11177132	1.000000	0.71417	0.983000	0.44433	0.979000	0.70002	3.963000	0.56773	2.677000	0.91161	0.655000	0.94253	GAG		0.522	ANGPTL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005564.1	NM_021146		7	143	0	0	0	1	0	7	143					A	11254545	G	A	11254545	3	1	329	1	0	0	0	0	1	0	0	0	619	1291	45	3	714	3	ANGPTL7	1	11254545	Missense_Mutation	SNP	G	TCGA-KK-A7B2-01A-12D-A32B-08	4574476	11254545	237996076	2	16771											
OR2B11	127623	broad.mit.edu	37	chr1	247614554	247614554	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcatcaggtgggaggaacacGtcccaaaggccttgtgtcgt	9	9	13	10	2	2	0	2	0	0	0	4	2	3	2	2	4	1	0	2	4	2	1	rs141064927		TCGA-KK-A7B2-01A-12D-A32B-08	TCGA-KK-A7B2-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	323679ff-5644-4826-9486-a60ba6b0431f	cf3e0850-c21c-4739-8085-7e278dded3cc	g.chr1:247614554G>A	ENST00000318749.6	-	1	754	c.731C>T	c.(730-732)aCg>aTg	p.T244M		NM_001004492.1	NP_001004492.1	Q5JQS5	OR2BB_HUMAN	olfactory receptor, family 2, subfamily B, member 11	244						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|kidney(13)|large_intestine(7)|lung(31)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	60	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.241)	OV - Ovarian serous cystadenocarcinoma(106;0.0188)			GGAGGAACACGTCCCAAAGGC	0.552													G|||	1	0.000199681	0	0	5008	,	,		19693	0.001		0	False		,,,				2504	0					ENST00000318749.6																			0				endometrium(3)|kidney(13)|large_intestine(7)|lung(31)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	60						c.(730-732)aCg>aTg		olfactory receptor, family 2, subfamily B, member 11							135	131	133					1																	247614554		2203	4300	6503	SO:0001583	missense	127623				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:247614554G>A		CCDS31090.1	1q44	2012-08-09			ENSG00000177535	ENSG00000177535		"GPCR / Class A : Olfactory receptors"	31249	protein-coding gene	gene with protein product							Standard	NM_001004492		Approved		uc010pyx.2	Q5JQS5	OTTHUMG00000040572	ENST00000318749.6:c.731C>T	1.37:g.247614554G>A	ENSP00000325682:p.Thr244Met						p.T244M	NM_001004492.1	NP_001004492.1	Q5JQS5	OR2BB_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0188)		1	754	-	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.241)	244					B2RP03	Missense_Mutation	SNP	ENST00000318749.6	37	c.731C>T	CCDS31090.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	20.7	4.039037	0.75617	.	.	ENSG00000177535	ENST00000318749	T	0.42513	0.97	5.09	5.09	0.68999	GPCR, rhodopsin-like superfamily (1);	0.000000	0.56097	D	0.000034	T	0.75642	0.3877	H	0.96365	3.81	0.48975	D	0.999737	D	0.89917	1.0	D	0.97110	1.0	T	0.83341	-0.0008	10	0.87932	D	0	.	16.3978	0.83621	0.0:0.0:1.0:0.0	.	244	Q5JQS5	OR2BB_HUMAN	M	244	ENSP00000325682:T244M	ENSP00000325682:T244M	T	-	2	0	OR2B11	245681177	1.000000	0.71417	0.767000	0.31495	0.771000	0.43674	8.467000	0.90390	2.817000	0.96982	0.643000	0.83706	ACG		0.552	OR2B11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097620.1	NM_001004492		8	85	0	0	0	1	0	8	85					A	247614554	G	A	247614554	3	1	329	1	0	0	0	0	1	0	0	0	10988	1145	40	1	225	1	OR2B11	1	247614554	Missense_Mutation	SNP	G	TCGA-KK-A7B2-01A-12D-A32B-08	236360009	247614554	1636067	3	16772											
VWA3B	200403	broad.mit.edu	37	chr2	98736173	98736173	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gatctgtgccgagaggctctAacaatggttctccaggagca	10	9	12	10	1	3	1	0	0	3	1	4	4	3	2	2	3	3	3	2	3	2	2			TCGA-KK-A7B2-01A-12D-A32B-08	TCGA-KK-A7B2-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	323679ff-5644-4826-9486-a60ba6b0431f	cf3e0850-c21c-4739-8085-7e278dded3cc	g.chr2:98736173A>G	ENST00000477737.1	+	4	693	c.489A>G	c.(487-489)ctA>ctG	p.L163L	VWA3B_ENST00000451075.2_Intron|VWA3B_ENST00000435344.1_Silent_p.L163L	NM_144992.4	NP_659429.4	Q502W6	VWA3B_HUMAN	von Willebrand factor A domain containing 3B	163										NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						GAGAGGCTCTAACAATGGTTC	0.483																																						ENST00000477737.1																			0				NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						c.(487-489)ctA>ctG		von Willebrand factor A domain containing 3B							171	166	168					2																	98736173		1956	4146	6102	SO:0001819	synonymous_variant	200403							g.chr2:98736173A>G	AL832761	CCDS42718.1	2q11.2	2008-02-05			ENSG00000168658	ENSG00000168658			28385	protein-coding gene	gene with protein product						12477932	Standard	NM_144992		Approved	DKFZp686F2227, MGC26733	uc002syo.3	Q502W6	OTTHUMG00000153104	ENST00000477737.1:c.489A>G	2.37:g.98736173A>G						VWA3B_ENST00000451075.2_Intron|VWA3B_ENST00000435344.1_Silent_p.L163L	p.L163L	NM_144992.4	NP_659429.4	Q502W6	VWA3B_HUMAN			4	693	+			163					B9EK71|Q86T73|Q8N2D0|Q8N770|Q8NA79|Q8ND63|Q8ND65|Q8WW02	Silent	SNP	ENST00000477737.1	37	c.489A>G	CCDS42718.1																																																																																				0.483	VWA3B-020	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353469.2	NM_144992		12	176	0	0	0	1	0	12	176					G	98736173	A	G	98736173	2	3	329	1	0	0	0	0	0	0	0	1	17238	349	13	4		4	VWA3B	2	98736173	Silent	SNP	A	TCGA-KK-A7B2-01A-12D-A32B-08		98736173	144463200	4	16773											
SI	6476	broad.mit.edu	37	chr3	164724640	164724640	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tctgtgaccatccatagagaTtgtgaacatcgtaatgcaaa	14	11	8	8	1	1	3	0	2	1	1	3	4	2	3	2	0	2	2	2	0	4	3			TCGA-KK-A7B2-01A-12D-A32B-08	TCGA-KK-A7B2-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	323679ff-5644-4826-9486-a60ba6b0431f	cf3e0850-c21c-4739-8085-7e278dded3cc	g.chr3:164724640T>C	ENST00000264382.3	-	37	4432	c.4370A>G	c.(4369-4371)aAt>aGt	p.N1457S		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	1457	Sucrase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	brush border (GO:0005903)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|oligo-1,6-glucosidase activity (GO:0004574)|sucrose alpha-glucosidase activity (GO:0004575)			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)|Scopolamine(DB00747)	TCCATAGAGATTGTGAACATC	0.353										HNSCC(35;0.089)																												ENST00000264382.3																			0				NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218						c.(4369-4371)aAt>aGt		sucrase-isomaltase (alpha-glucosidase)	Acarbose(DB00284)						131	118	122					3																	164724640		2202	4300	6502	SO:0001583	missense	6476				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity	g.chr3:164724640T>C	X63597	CCDS3196.1	3q25.2-q26.2	2004-04-06	2004-04-06		ENSG00000090402	ENSG00000090402	3.2.1.10		10856	protein-coding gene	gene with protein product	"Oligosaccharide alpha-1,6-glucosidase"	609845	"sucrase-isomaltase"			2962903, 1353958	Standard	NM_001041		Approved		uc003fei.3	P14410	OTTHUMG00000158065	ENST00000264382.3:c.4370A>G	3.37:g.164724640T>C	ENSP00000264382:p.Asn1457Ser	HNSCC(35;0.089)					p.N1457S	NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN			37	4432	-		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)	1457			Sucrase.		A2RUC3|Q1JQ80|Q1RMC2	Missense_Mutation	SNP	ENST00000264382.3	37	c.4370A>G	CCDS3196.1	.	.	.	.	.	.	.	.	.	.	T	5.952	0.359686	0.11239	.	.	ENSG00000090402	ENST00000264382	D	0.93859	-3.3	5.62	4.44	0.53790	Glycoside hydrolase, superfamily (1);	0.136685	0.53938	D	0.000055	D	0.87120	0.6098	L	0.43701	1.375	0.36985	D	0.894492	B	0.17268	0.021	B	0.21546	0.035	T	0.78478	-0.2188	10	0.02654	T	1	.	8.4985	0.33144	0.0:0.1545:0.0:0.8455	.	1457	P14410	SUIS_HUMAN	S	1457	ENSP00000264382:N1457S	ENSP00000264382:N1457S	N	-	2	0	SI	166207334	1.000000	0.71417	0.978000	0.43139	0.742000	0.42306	0.556000	0.23438	2.139000	0.66308	0.397000	0.26171	AAT		0.353	SI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350116.1	NM_001041		3	49	0	0	0	1	0	3	49					C	164724640	T	C	164724640	3	2	329	1	0	0	0	0	1	0	0	0	14297	1493	52	4	1161	4	SI	3	164724640	Missense_Mutation	SNP	T	TCGA-KK-A7B2-01A-12D-A32B-08		164724640	33297790	5	16774											
ACOT12	134526	broad.mit.edu	37	chr5	80638492	80638492	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atacctggaagtgtcctaccTtttccacagtgctggtaacc	9	12	8	12	0	0	0	0	0	0	0	2	1	2	1	5	2	4	2	5	2	4	5			TCGA-KK-A7B2-01A-12D-A32B-08	TCGA-KK-A7B2-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	323679ff-5644-4826-9486-a60ba6b0431f	cf3e0850-c21c-4739-8085-7e278dded3cc	g.chr5:80638492T>C	ENST00000307624.3	-	11	1155	c.1127A>G	c.(1126-1128)aAg>aGg	p.K376R	ACOT12_ENST00000508234.1_Intron	NM_130767.2	NP_570123.1	Q8WYK0	ACO12_HUMAN	acyl-CoA thioesterase 12	376	START. {ECO:0000255|PROSITE- ProRule:PRU00197}.				acetyl-CoA metabolic process (GO:0006084)|acyl-CoA metabolic process (GO:0006637)|fatty acid metabolic process (GO:0006631)|pyruvate metabolic process (GO:0006090)	cytosol (GO:0005829)	acetyl-CoA hydrolase activity (GO:0003986)|ATP binding (GO:0005524)|carboxylic ester hydrolase activity (GO:0052689)|lipid binding (GO:0008289)			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)	23		Lung NSC(167;0.0176)|all_lung(232;0.0205)|Ovarian(174;0.135)		OV - Ovarian serous cystadenocarcinoma(54;1.37e-45)|Epithelial(54;1.25e-39)|all cancers(79;5.01e-34)		GTGTCCTACCTTTTCCACAGT	0.468																																						ENST00000307624.3																			0				cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)	23						c.e11+1		acyl-CoA thioesterase 12							155	139	144					5																	80638492		2203	4300	6503	SO:0001630	splice_region_variant	134526				acyl-CoA metabolic process|fatty acid metabolic process	cytosol	acetyl-CoA hydrolase activity|carboxylesterase activity	g.chr5:80638492T>C	AB078619	CCDS4055.1	5q14.1	2011-09-13			ENSG00000172497	ENSG00000172497		"Acyl CoA thioesterases", "StAR-related lipid transfer (START) domain containing"	24436	protein-coding gene	gene with protein product	"StAR-related lipid transfer (START) domain containing 15"	614315				16103133, 16940157	Standard	NM_130767		Approved	Cach, THEAL, STARD15	uc003khl.4	Q8WYK0	OTTHUMG00000131305	ENST00000307624.3:c.1128+1A>G	5.37:g.80638492T>C						ACOT12_ENST00000508234.1_Intron	p.K376_splice	NM_130767.2	NP_570123.1	Q8WYK0	ACO12_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;1.37e-45)|Epithelial(54;1.25e-39)|all cancers(79;5.01e-34)	11	1155	-		Lung NSC(167;0.0176)|all_lung(232;0.0205)|Ovarian(174;0.135)	376			START.		B3KVK9|Q5FWE9	Splice_Site	SNP	ENST00000307624.3	37	c.1128_splice	CCDS4055.1	.	.	.	.	.	.	.	.	.	.	T	11.81	1.748462	0.30955	.	.	ENSG00000172497	ENST00000307624	T	0.30182	1.54	5.24	5.24	0.73138	Lipid-binding START (2);START-like domain (1);	0.117198	0.56097	D	0.000031	T	0.34019	0.0883	M	0.67953	2.075	0.80722	D	1	B	0.25105	0.118	B	0.27715	0.082	T	0.12268	-1.0554	10	0.40728	T	0.16	0.0768	12.6848	0.56942	0.0:0.0:0.0:1.0	.	376	Q8WYK0	ACO12_HUMAN	R	376	ENSP00000303246:K376R	ENSP00000303246:K376R	K	-	2	0	ACOT12	80674248	1.000000	0.71417	0.986000	0.45419	0.179000	0.23085	5.534000	0.67167	1.992000	0.58205	0.533000	0.62120	AAG		0.468	ACOT12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254074.1	NM_130767	Missense_Mutation	10	115	0	0	0	1	0	10	115					C	80638492	T	C	80638492	5	2	329	1	0	0	0	0	0	0	1	0	150	1623	56	4	560	4	ACOT12	5	80638492	Splice_Site	SNP	T	TCGA-KK-A7B2-01A-12D-A32B-08		80638492	100276768	6	16775											
PCDHA8	56140	broad.mit.edu	37	chr5	140222517	140222517	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcagttccaggtgagcgcGcgcgacgcgggcgtgccgcc	4	5	17	15	8	0	1	0	1	0	0	1	2	1	1	3	2	3	2	3	2	0	1			TCGA-KK-A7B2-01A-12D-A32B-08	TCGA-KK-A7B2-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	323679ff-5644-4826-9486-a60ba6b0431f	cf3e0850-c21c-4739-8085-7e278dded3cc	g.chr5:140222517G>A	ENST00000531613.1	+	1	1611	c.1611G>A	c.(1609-1611)gcG>gcA	p.A537A	PCDHA6_ENST00000527624.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA8_ENST00000378123.3_Silent_p.A537A|PCDHA4_ENST00000512229.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Intron	NM_018911.2	NP_061734.1	Q9Y5H6	PCDA8_HUMAN	protocadherin alpha 8	537	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(2)|breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(31)|ovary(2)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(6)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGGTGAGCGCGCGCGACGCGG	0.667																																						ENST00000531613.1																			0				NS(2)|breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(31)|ovary(2)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(6)	78						c.(1609-1611)gcG>gcA									54	64	61					5																	140222517		2194	4269	6463	SO:0001819	synonymous_variant	0							g.chr5:140222517G>A	AF152486	CCDS54919.1	5q31	2010-11-26				ENSG00000204962		"Cadherins / Protocadherins : Clustered"	8674	other	complex locus constituent	"KIAA0345-like 6"	606314				10380929	Standard	NM_018911		Approved			Q9Y5H6		ENST00000531613.1:c.1611G>A	5.37:g.140222517G>A						PCDHA1_ENST00000394633.3_Intron|PCDHA8_ENST00000378123.3_Silent_p.A537A|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron	p.A537A	NM_018911.2	NP_061734.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1611	+								B9EGT7|O75281	Silent	SNP	ENST00000531613.1	37	c.1611G>A	CCDS54919.1																																																																																				0.667	PCDHA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372830.2	NM_018911		12	128	0	0	0	1	0	12	128					A	140222517	G	A	140222517	2	1	329	1	0	0	0	0	0	0	0	1	11530	1074	38	1		1	PCDHA8	5	140222517	Silent	SNP	G	TCGA-KK-A7B2-01A-12D-A32B-08	59584025	140222517	40692743	7	16776											
PDGFRB	5159	broad.mit.edu	37	chr5	149502718	149502718	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgttgcggtgcaggtagtcCaccaggtctccgtagcggca	6	10	14	11	3	1	0	0	0	1	0	3	0	2	0	3	4	3	5	3	4	2	4			TCGA-KK-A7B2-01A-12D-A32B-08	TCGA-KK-A7B2-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	323679ff-5644-4826-9486-a60ba6b0431f	cf3e0850-c21c-4739-8085-7e278dded3cc	g.chr5:149502718C>T	ENST00000261799.4	-	15	2539	c.2070G>A	c.(2068-2070)gtG>gtA	p.V690V		NM_002609.3	NP_002600.1	P09619	PGFRB_HUMAN	platelet-derived growth factor receptor, beta polypeptide	690	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				adrenal gland development (GO:0030325)|aorta morphogenesis (GO:0035909)|cardiac myofibril assembly (GO:0055003)|cell chemotaxis (GO:0060326)|cell migration (GO:0016477)|cell migration involved in coronary angiogenesis (GO:0060981)|cell migration involved in vasculogenesis (GO:0035441)|cellular response to platelet-derived growth factor stimulus (GO:0036120)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|glycosaminoglycan biosynthetic process (GO:0006024)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inner ear development (GO:0048839)|metanephric comma-shaped body morphogenesis (GO:0072278)|metanephric glomerular capillary formation (GO:0072277)|metanephric glomerular mesangial cell proliferation involved in metanephros development (GO:0072262)|metanephric mesenchymal cell migration (GO:0035789)|metanephric mesenchyme development (GO:0072075)|metanephric S-shaped body morphogenesis (GO:0072284)|negative regulation of apoptotic process (GO:0043066)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol metabolic process (GO:0046488)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|platelet-derived growth factor receptor-beta signaling pathway (GO:0035791)|positive regulation of calcium ion import (GO:0090280)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell proliferation by VEGF-activated platelet derived growth factor receptor signaling pathway (GO:0038091)|positive regulation of chemotaxis (GO:0050921)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway (GO:0035793)|positive regulation of mitosis (GO:0045840)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of smooth muscle cell migration (GO:0014911)|positive regulation of smooth muscle cell proliferation (GO:0048661)|protein autophosphorylation (GO:0046777)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to estradiol (GO:0032355)|response to fluid shear stress (GO:0034405)|response to hydrogen peroxide (GO:0042542)|response to hyperoxia (GO:0055093)|response to retinoic acid (GO:0032526)|response to toxic substance (GO:0009636)|retina vasculature development in camera-type eye (GO:0061298)|signal transduction (GO:0007165)|skeletal system morphogenesis (GO:0048705)|smooth muscle cell chemotaxis (GO:0071670)|smooth muscle tissue development (GO:0048745)|tissue homeostasis (GO:0001894)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intrinsic component of plasma membrane (GO:0031226)|lysosome (GO:0005764)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|platelet activating factor receptor activity (GO:0004992)|platelet-derived growth factor beta-receptor activity (GO:0005019)|platelet-derived growth factor binding (GO:0048407)|platelet-derived growth factor receptor binding (GO:0005161)|platelet-derived growth factor-activated receptor activity (GO:0005017)|protein kinase binding (GO:0019901)|protein tyrosine kinase activity (GO:0004713)|receptor binding (GO:0005102)|vascular endothelial growth factor binding (GO:0038085)			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(3)|prostate(3)|skin(3)|stomach(6)|urinary_tract(1)	75		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	GCAGGTAGTCCACCAGGTCTC	0.622			T	"ETV6, TRIP11, HIP1, RAB5EP, H4, NIN, HCMOGT-1, PDE4DIP"	"MPD, AML, CMML, CML"																																	ENST00000261799.4				Dom	yes		5	5q31-q32	5159	T	"platelet-derived growth factor receptor, beta polypeptide"			L	"ETV6, TRIP11, HIP1, RAB5EP, H4, NIN, HCMOGT-1, PDE4DIP"		"MPD, AML, CMML, CML"		0				breast(3)|central_nervous_system(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(3)|prostate(3)|skin(3)|stomach(6)|urinary_tract(1)	75						c.(2068-2070)gtG>gtA		platelet-derived growth factor receptor, beta polypeptide	Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)						148	125	132					5																	149502718		2203	4300	6503	SO:0001819	synonymous_variant	5159				aorta morphogenesis|cardiac myofibril assembly|hemopoiesis|metanephric glomerular capillary formation|metanephric glomerular mesangial cell proliferation involved in metanephros development|peptidyl-tyrosine phosphorylation|positive regulation of calcium ion import|positive regulation of chemotaxis|positive regulation of DNA biosynthetic process|positive regulation of ERK1 and ERK2 cascade|positive regulation of MAP kinase activity|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of mitosis|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|protein autophosphorylation|regulation of actin cytoskeleton organization|retina vasculature development in camera-type eye|smooth muscle cell chemotaxis	apical plasma membrane|cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|vascular endothelial growth factor receptor activity	g.chr5:149502718C>T	M21616	CCDS4303.1	5q33.1	2013-01-29			ENSG00000113721	ENSG00000113721		"CD molecules", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	8804	protein-coding gene	gene with protein product		173410		PDGFR			Standard	XM_005268464		Approved	JTK12, CD140b, PDGFR1	uc003lro.3	P09619	OTTHUMG00000130053	ENST00000261799.4:c.2070G>A	5.37:g.149502718C>T							p.V690V	NM_002609.3	NP_002600.1	P09619	PGFRB_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		15	2539	-		all_hematologic(541;0.224)	690			Protein kinase.		B5A957|Q8N5L4	Silent	SNP	ENST00000261799.4	37	c.2070G>A	CCDS4303.1																																																																																				0.622	PDGFRB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252332.1	NM_002609		5	71	0	0	0	1	0	5	71					T	149502718	C	T	149502718	2	4	329	1	0	0	0	0	0	0	0	1	11662	581	21	3		3	PDGFRB	5	149502718	Silent	SNP	C	TCGA-KK-A7B2-01A-12D-A32B-08	9280201	149502718	31412542	8	16777											
BOD1	91272	broad.mit.edu	37	chr5	173043417	173043419	+	In_Frame_Del	DEL	CCG	CCG	-																															cgcccaccgcgccagttcccCcgccgccgccgccgtccgcc																										TCGA-KK-A7B2-01A-12D-A32B-08	TCGA-KK-A7B2-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	323679ff-5644-4826-9486-a60ba6b0431f	cf3e0850-c21c-4739-8085-7e278dded3cc	g.chr5:173043417_173043419delCCG	ENST00000311086.4	-	1	244_246	c.21_23delCGG	c.(19-24)ggcggg>ggg	p.7_8GG>G	BOD1_ENST00000480951.1_In_Frame_Del_p.7_8GG>G|BOD1_ENST00000285908.5_In_Frame_Del_p.7_8GG>G|BOD1_ENST00000471339.1_5'UTR	NM_138369.2	NP_612378.1	Q96IK1	BOD1_HUMAN	biorientation of chromosomes in cell division 1	7	Gly-rich.				mitotic nuclear division (GO:0007067)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|kinetochore (GO:0000776)				endometrium(1)|large_intestine(2)|lung(2)|ovary(2)	7						GCCAGTTCCCCCGCCGCCGCCGC	0.714																																						ENST00000311086.4																			0				endometrium(1)|large_intestine(2)|lung(2)|ovary(2)	7						c.(19-24)ggg>gg		biorientation of chromosomes in cell division 1			,	8,1556		0,8,774					,	-0.1	0			4	25,3659		1,23,1818	no	coding,coding	BOD1	NM_138369.2,NM_001159651.1	,	1,31,2592	A1A1,A1R,RR		0.6786,0.5115,0.6288	,	,		33,5215				SO:0001651	inframe_deletion	91272				cell division|mitosis	condensed chromosome kinetochore|microtubule organizing center		g.chr5:173043417_173043419delCCG	AY303777	CCDS4389.1, CCDS54951.1	5q35.2	2013-10-11	2009-03-04	2009-03-04	ENSG00000145919	ENSG00000145919			25114	protein-coding gene	gene with protein product	"biorientation defective 1"		"family with sequence similarity 44, member B"	FAM44B		17938248	Standard	NM_138369		Approved		uc003mcq.2	Q96IK1	OTTHUMG00000130540	ENST00000311086.4:c.21_23delCGG	5.37:g.173043426_173043428delCCG	ENSP00000309644:p.Gly9del					BOD1_ENST00000480951.1_In_Frame_Del_p.GG7del|BOD1_ENST00000471339.1_5'UTR|BOD1_ENST00000285908.5_In_Frame_Del_p.GG7del	p.GG7del	NM_138369.2	NP_612378.1	Q96IK1	BOD1_HUMAN			1	244_246	-			7			Gly-rich.		B4DXH8|Q9BTW1	In_Frame_Del	DEL	ENST00000311086.4	37	c.21_23delCGG	CCDS4389.1																																																																																				0.714	BOD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252963.1	NM_138369		2	4						2	4	---	---	---	---	-	173043419	CCG	-	173043417	7	5	329	1	0	1	0	1	0	0	0	0	1482	623	22	0	578	0	BOD1	5	173043417	In_Frame_Del	DEL	CCG	TCGA-KK-A7B2-01A-12D-A32B-08	23540699	173043417	7871843	9	16778											
DDX43	55510	broad.mit.edu	37	chr6	74115421	74115421	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggaaagaaaattttaatataAcgtgggatgacttgaaggat	17	11	11	2	1	0	3	0	2	0	1	0	6	0	6	0	3	1	0	0	3	7	5			TCGA-KK-A7B2-01A-12D-A32B-08	TCGA-KK-A7B2-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	323679ff-5644-4826-9486-a60ba6b0431f	cf3e0850-c21c-4739-8085-7e278dded3cc	g.chr6:74115421A>T	ENST00000370336.4	+	6	828	c.670A>T	c.(670-672)Acg>Tcg	p.T224S	DDX43_ENST00000539829.1_Nonstop_Mutation_p.*196Y	NM_018665.2	NP_061135.2	Q9NXZ2	DDX43_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 43	224					ATP catabolic process (GO:0006200)	intracellular (GO:0005622)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|RNA binding (GO:0003723)			NS(1)|breast(2)|central_nervous_system(1)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	24						TTTTAATATAACGTGGGATGA	0.398																																						ENST00000539829.1																			0				NS(1)|breast(2)|central_nervous_system(1)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	24						c.(586-588)taA>taT		DEAD (Asp-Glu-Ala-Asp) box polypeptide 43							86	85	85					6																	74115421		2203	4300	6503	SO:0001583	missense	55510					intracellular	ATP binding|ATP-dependent RNA helicase activity|RNA binding	g.chr6:74115421A>T		CCDS4977.1	6q13	2014-01-21			ENSG00000080007	ENSG00000080007		"DEAD-boxes"	18677	protein-coding gene	gene with protein product	"cancer/testis antigen 13"	606286				10919659	Standard	NM_018665		Approved	HAGE, DKFZp434H2114, CT13	uc003pgw.3	Q9NXZ2	OTTHUMG00000015033	ENST00000370336.4:c.670A>T	6.37:g.74115421A>T	ENSP00000359361:p.Thr224Ser					DDX43_ENST00000370336.4_Missense_Mutation_p.T224S	p.*196Y			Q9NXZ2	DDX43_HUMAN			5	641	+			0					B4E0C8|Q6NXR1	Nonstop_Mutation	SNP	ENST00000370336.4	37	c.588A>T	CCDS4977.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	7.555|7.555	0.663601|0.663601	0.14710|0.14710	.|.	.|.	ENSG00000080007|ENSG00000080007	ENST00000370336|ENST00000539829	T|.	0.15718|.	2.4|.	5.18|5.18	4.01|4.01	0.46588|0.46588	.|.	0.410761|.	0.28760|.	N|.	0.014230|.	T|.	0.27663|.	0.0680|.	L|L	0.55213|0.55213	1.73|1.73	0.09310|0.09310	N|N	1|1	B|.	0.12013|.	0.005|.	B|.	0.08055|.	0.003|.	T|.	0.14755|.	-1.0461|.	10|.	0.44086|.	T|.	0.13|.	-0.8536|-0.8536	10.2142|10.2142	0.43158|0.43158	0.9193:0.0:0.0807:0.0|0.9193:0.0:0.0807:0.0	.|.	224|.	Q9NXZ2|.	DDX43_HUMAN|.	S|Y	224|196	ENSP00000359361:T224S|.	ENSP00000359361:T224S|.	T|X	+|+	1|3	0|2	DDX43|DDX43	74172142|74172142	1.000000|1.000000	0.71417|0.71417	0.987000|0.987000	0.45799|0.45799	0.508000|0.508000	0.34012|0.34012	3.641000|3.641000	0.54360|0.54360	0.920000|0.920000	0.36970|0.36970	0.460000|0.460000	0.39030|0.39030	ACG|TAA		0.398	DDX43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041219.3	NM_018665		5	56	0	0	0	1	0	5	56					T	74115421	A	T	74115421	3	4	329	1	0	0	0	0	1	0	0	0	4363	43	2	5	692	5	DDX43	6	74115421	Missense_Mutation	SNP	A	TCGA-KK-A7B2-01A-12D-A32B-08		74115421	96999646	10	16779											
KIAA2026	158358	broad.mit.edu	37	chr9	5968436	5968436	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aagaggctctccaaagccagTaacttcccctggactccttg	10	9	8	14	0	1	1	0	0	1	1	4	2	3	2	5	2	2	2	5	2	3	3			TCGA-KK-A7B2-01A-12D-A32B-08	TCGA-KK-A7B2-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	323679ff-5644-4826-9486-a60ba6b0431f	cf3e0850-c21c-4739-8085-7e278dded3cc	g.chr9:5968436T>A	ENST00000399933.3	-	3	1794	c.1795A>T	c.(1795-1797)Act>Tct	p.T599S	KIAA2026_ENST00000381461.2_Missense_Mutation_p.T599S	NM_001017969.2	NP_001017969.2	Q5HYC2	K2026_HUMAN	KIAA2026	599										breast(6)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(1)	46		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124)		CCAAAGCCAGTAACTTCCCCT	0.363																																						ENST00000399933.3																			0				breast(6)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(1)	46						c.(1795-1797)Act>Tct		KIAA2026							103	100	101					9																	5968436		1812	4074	5886	SO:0001583	missense	158358							g.chr9:5968436T>A	AB095946		9p24.1	2014-01-10			ENSG00000183354	ENSG00000183354			23378	protein-coding gene	gene with protein product							Standard	NM_001017969		Approved	FLJ20375	uc003zjq.4	Q5HYC2	OTTHUMG00000019507	ENST00000399933.3:c.1795A>T	9.37:g.5968436T>A	ENSP00000382815:p.Thr599Ser					KIAA2026_ENST00000381461.2_Missense_Mutation_p.T599S	p.T599S	NM_001017969.2	NP_001017969.2	Q5HYC2	K2026_HUMAN		GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124)	3	1794	-		Acute lymphoblastic leukemia(23;0.158)	599					A8MTP2|B9EGW7|Q4VXA2|Q8IVE5	Missense_Mutation	SNP	ENST00000399933.3	37	c.1795A>T		.	.	.	.	.	.	.	.	.	.	T	11.98	1.799221	0.31869	.	.	ENSG00000183354	ENST00000399933;ENST00000381461;ENST00000513355	D;D;D	0.91464	-2.85;-2.85;-2.85	5.79	4.63	0.57726	.	0.414329	0.17851	U	0.159872	T	0.80314	0.4600	N	0.19112	0.55	0.22305	N	0.999214	B	0.15473	0.013	B	0.15484	0.013	T	0.65594	-0.6130	10	0.32370	T	0.25	.	3.1703	0.06550	0.184:0.1753:0.0:0.6408	.	599	Q5HYC2	K2026_HUMAN	S	599;599;532	ENSP00000382815:T599S;ENSP00000370870:T599S;ENSP00000444993:T532S	ENSP00000370870:T599S	T	-	1	0	KIAA2026	5958436	0.993000	0.37304	1.000000	0.80357	0.997000	0.91878	0.917000	0.28665	0.984000	0.38629	0.482000	0.46254	ACT		0.363	KIAA2026-002	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000051652.2	NM_001017969		7	130	0	0	0	1	0	7	130					A	5968436	T	A	5968436	3	1	329	1	0	0	0	0	1	0	0	0	8270	1638	57	5	4540	5	KIAA2026	9	5968436	Missense_Mutation	SNP	T	TCGA-KK-A7B2-01A-12D-A32B-08		5968436	135244995	11	16780											
SYNPO2L	79933	broad.mit.edu	37	chr10	75406859	75406859	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aagttgatagggctgatgccGcataaaatctagagccttga	13	10	11	7	1	1	4	0	3	1	1	1	4	1	4	2	1	2	3	2	1	5	5			TCGA-KK-A7B2-01A-12D-A32B-08	TCGA-KK-A7B2-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	323679ff-5644-4826-9486-a60ba6b0431f	cf3e0850-c21c-4739-8085-7e278dded3cc	g.chr10:75406859G>A	ENST00000394810.2	-	4	2700	c.2551C>T	c.(2551-2553)Cgg>Tgg	p.R851W	SYNPO2L_ENST00000372873.4_Missense_Mutation_p.R627W	NM_001114133.1	NP_001107605.1	Q9H987	SYP2L_HUMAN	synaptopodin 2-like	851	Pro-rich.					cytoskeleton (GO:0005856)|nucleus (GO:0005634)|Z disc (GO:0030018)		p.R627W(2)|p.R851W(1)		breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Prostate(51;0.0112)					GGCTGATGCCGCATAAAATCT	0.577																																						ENST00000394810.2																			3	Substitution - Missense(3)	p.R627W(2)|p.R851W(1)	kidney(2)|large_intestine(1)	breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						c.(2551-2553)Cgg>Tgg		synaptopodin 2-like							59	70	66					10																	75406859		2201	4296	6497	SO:0001583	missense	79933					cytoplasm|cytoskeleton	actin binding	g.chr10:75406859G>A	AK022983	CCDS7331.1, CCDS44438.1	10q22.3	2007-12-19			ENSG00000166317	ENSG00000166317			23532	protein-coding gene	gene with protein product							Standard	XM_005270158		Approved	FLJ12921	uc001jut.4	Q9H987	OTTHUMG00000018471	ENST00000394810.2:c.2551C>T	10.37:g.75406859G>A	ENSP00000378289:p.Arg851Trp					SYNPO2L_ENST00000372872.4_Intron|SYNPO2L_ENST00000372873.4_Missense_Mutation_p.R627W	p.R851W	NM_001114133.1	NP_001107605.1	Q9H987	SYP2L_HUMAN			4	2700	-	Prostate(51;0.0112)		851			Pro-rich.		A5PKV9|Q68A20	Missense_Mutation	SNP	ENST00000394810.2	37	c.2551C>T	CCDS44438.1	.	.	.	.	.	.	.	.	.	.	G	16.62	3.172756	0.57584	.	.	ENSG00000166317	ENST00000372873;ENST00000394810	T;T	0.27720	1.65;1.98	5.08	3.02	0.34903	.	0.122449	0.53938	D	0.000053	T	0.49966	0.1588	L	0.59436	1.845	0.36226	D	0.852342	D;D	0.89917	1.0;1.0	D;D	0.72625	0.952;0.978	T	0.64210	-0.6461	10	0.72032	D	0.01	-15.751	14.6607	0.68868	0.0:0.0:0.653:0.347	.	851;627	Q9H987;Q9H987-2	SYP2L_HUMAN;.	W	627;851	ENSP00000361964:R627W;ENSP00000378289:R851W	ENSP00000361964:R627W	R	-	1	2	SYNPO2L	75076865	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	1.600000	0.36762	1.302000	0.44855	0.561000	0.74099	CGG		0.577	SYNPO2L-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316562.2	NM_024875		5	113	0	0	0	1	0	5	113					A	75406859	G	A	75406859	3	1	329	1	0	0	0	0	1	0	0	0	15455	1086	38	1	386	1	SYNPO2L	10	75406859	Missense_Mutation	SNP	G	TCGA-KK-A7B2-01A-12D-A32B-08		75406859	60127888	12	16781											
C11orf74	119710	broad.mit.edu	37	chr11	36680674	36680674	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cagagatagagaacatcaaaGagctatgcaagcagcagaag	19	4	11	7	0	1	4	1	0	0	4	1	6	1	4	0	0	5	4	0	0	6	2			TCGA-KK-A7B2-01A-12D-A32B-08	TCGA-KK-A7B2-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	323679ff-5644-4826-9486-a60ba6b0431f	cf3e0850-c21c-4739-8085-7e278dded3cc	g.chr11:36680674G>C	ENST00000334307.5	+	6	719	c.604G>C	c.(604-606)Gag>Cag	p.E202Q	C11orf74_ENST00000534635.1_Missense_Mutation_p.E128Q|C11orf74_ENST00000347206.4_Missense_Mutation_p.E128Q|C11orf74_ENST00000446510.2_Intron	NM_138787.2	NP_620142.2	Q86VG3	CK074_HUMAN	chromosome 11 open reading frame 74	202										breast(1)|kidney(1)|large_intestine(1)|lung(5)	8	all_lung(20;0.226)	all_hematologic(20;0.0118)				GAACATCAAAGAGCTATGCAA	0.393																																						ENST00000334307.5																			0				breast(1)|kidney(1)|large_intestine(1)|lung(5)	8						c.(604-606)Gag>Cag		chromosome 11 open reading frame 74							116	111	112					11																	36680674		2202	4298	6500	SO:0001583	missense	119710							g.chr11:36680674G>C	AK095997, BC009561	CCDS7904.1, CCDS60762.1	11p12	2012-08-10			ENSG00000166352	ENSG00000166352			25142	protein-coding gene	gene with protein product						12477932	Standard	NM_001276722		Approved	FLJ38678, HEPIS	uc031pzr.1	Q86VG3	OTTHUMG00000166397	ENST00000334307.5:c.604G>C	11.37:g.36680674G>C	ENSP00000334848:p.Glu202Gln					C11orf74_ENST00000534635.1_Missense_Mutation_p.E128Q|C11orf74_ENST00000347206.4_Missense_Mutation_p.E128Q|C11orf74_ENST00000446510.2_Intron	p.E202Q	NM_138787.2	NP_620142.2	Q86VG3	CK074_HUMAN			6	719	+	all_lung(20;0.226)	all_hematologic(20;0.0118)	202					D3DR18|Q96DD6	Missense_Mutation	SNP	ENST00000334307.5	37	c.604G>C	CCDS7904.1	.	.	.	.	.	.	.	.	.	.	G	18.27	3.587557	0.66105	.	.	ENSG00000166352	ENST00000334307;ENST00000347206;ENST00000534635	.	.	.	5.68	4.75	0.60458	.	0.087864	0.48767	D	0.000161	T	0.77519	0.4142	M	0.74881	2.28	0.42139	D	0.991507	D;D	0.89917	1.0;1.0	D;D	0.70716	0.97;0.97	T	0.79240	-0.1885	8	.	.	.	-10.3408	14.8458	0.70259	0.0:0.1433:0.8567:0.0	.	202;128	Q86VG3;Q86VG3-2	CK074_HUMAN;.	Q	202;128;128	.	.	E	+	1	0	C11orf74	36637250	0.110000	0.22057	0.112000	0.21494	0.040000	0.13550	0.964000	0.29306	1.376000	0.46267	0.650000	0.86243	GAG		0.393	C11orf74-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000389567.1	NM_138787		4	75	0	0	0	1	0	4	75					C	36680674	G	C	36680674	3	2	329	1	0	0	0	0	1	0	0	0	1662	943	33	5	622	5	C11orf74	11	36680674	Missense_Mutation	SNP	G	TCGA-KK-A7B2-01A-12D-A32B-08		36680674	98325842	13	16782											
SLC35C1	55343	broad.mit.edu	37	chr11	45827881	45827881	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctgctcacctgcggtatcAtcatcggtgagtggcagctg	6	10	12	13	2	3	1	3	1	0	0	4	1	3	1	2	3	3	4	2	3	1	1			TCGA-KK-A7B2-01A-12D-A32B-08	TCGA-KK-A7B2-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	323679ff-5644-4826-9486-a60ba6b0431f	cf3e0850-c21c-4739-8085-7e278dded3cc	g.chr11:45827881A>G	ENST00000314134.3	+	1	1925	c.529A>G	c.(529-531)Atc>Gtc	p.I177V	SLC35C1_ENST00000442528.2_Missense_Mutation_p.I164V|SLC35C1_ENST00000456334.1_Missense_Mutation_p.I164V	NM_018389.4	NP_060859.4	Q96A29	FUCT1_HUMAN	solute carrier family 35 (GDP-fucose transporter), member C1	177					carbohydrate transport (GO:0008643)|lipid glycosylation (GO:0030259)|negative regulation of Notch signaling pathway (GO:0045746)|transmembrane transport (GO:0055085)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)				endometrium(3)|kidney(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	10				GBM - Glioblastoma multiforme(35;0.227)		CTGCGGTATCATCATCGGTGA	0.567																																						ENST00000314134.3																			0				endometrium(3)|kidney(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	10						c.(529-531)Atc>Gtc		solute carrier family 35 (GDP-fucose transporter), member C1							49	37	41					11																	45827881		2203	4299	6502	SO:0001583	missense	55343					Golgi membrane|integral to membrane	GDP-fucose transmembrane transporter activity	g.chr11:45827881A>G		CCDS7914.1, CCDS44575.1	11p11.2	2014-09-17	2013-07-17			ENSG00000181830		"Solute carriers"	20197	protein-coding gene	gene with protein product		605881	"solute carrier family 35, member C1"			11326279, 11326280	Standard	NM_018389		Approved	FUCT1, FLJ11320	uc010rgm.2	Q96A29		ENST00000314134.3:c.529A>G	11.37:g.45827881A>G	ENSP00000313318:p.Ile177Val					SLC35C1_ENST00000456334.1_Missense_Mutation_p.I164V|SLC35C1_ENST00000442528.2_Missense_Mutation_p.I164V	p.I177V	NM_018389.4	NP_060859.4	Q96A29	FUCT1_HUMAN		GBM - Glioblastoma multiforme(35;0.227)	1	1925	+			177					B2RDB2|Q9BV76|Q9NUJ8	Missense_Mutation	SNP	ENST00000314134.3	37	c.529A>G	CCDS7914.1	.	.	.	.	.	.	.	.	.	.	A	17.70	3.454132	0.63290	.	.	ENSG00000181830	ENST00000442528;ENST00000456334;ENST00000530670;ENST00000314134;ENST00000530471;ENST00000540685	T;T;T;T	0.71698	-0.59;-0.59;-0.59;-0.59	4.71	4.71	0.59529	Drug/metabolite transporter (1);	0.000000	0.85682	D	0.000000	T	0.62245	0.2412	L	0.38175	1.15	0.80722	D	1	B	0.25772	0.134	B	0.28916	0.096	T	0.59156	-0.7507	10	0.30854	T	0.27	-46.7302	14.2081	0.65748	1.0:0.0:0.0:0.0	.	177	Q96A29	FUCT1_HUMAN	V	164;164;98;177;164;177	ENSP00000412408:I164V;ENSP00000399779:I164V;ENSP00000313318:I177V;ENSP00000432669:I164V	ENSP00000313318:I177V	I	+	1	0	SLC35C1	45784457	1.000000	0.71417	0.994000	0.49952	0.931000	0.56810	7.455000	0.80726	1.767000	0.52121	0.460000	0.39030	ATC		0.567	SLC35C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390139.1	NM_018389		4	26	0	0	0	1	0	4	26					G	45827881	A	G	45827881	3	3	329	1	0	0	0	0	1	0	0	0	14579	217	8	4	531	4	SLC35C1	11	45827881	Missense_Mutation	SNP	A	TCGA-KK-A7B2-01A-12D-A32B-08	9147207	45827881	89178635	14	16783											
OR8H1	219469	broad.mit.edu	37	chr11	56058345	56058345	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaggtcaataaatgacaagTgagtaaggaaaaaatacatg	20	8	10	3	0	1	3	1	3	0	0	1	4	1	4	0	2	1	1	0	2	9	3	rs374183508		TCGA-KK-A7B2-01A-12D-A32B-08	TCGA-KK-A7B2-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	323679ff-5644-4826-9486-a60ba6b0431f	cf3e0850-c21c-4739-8085-7e278dded3cc	g.chr11:56058345T>G	ENST00000313022.2	-	1	221	c.194A>C	c.(193-195)cAc>cCc	p.H65P		NM_001005199.1	NP_001005199.1	Q8NGG4	OR8H1_HUMAN	olfactory receptor, family 8, subfamily H, member 1	65						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Esophageal squamous(21;0.00448)					AAATGACAAGTGAGTAAGGAA	0.423																																						ENST00000313022.2																			0				NS(2)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						c.(193-195)cAc>cCc		olfactory receptor, family 8, subfamily H, member 1							264	252	256					11																	56058345		2201	4296	6497	SO:0001583	missense	219469				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56058345T>G	AB065836	CCDS31526.1	11q11	2012-08-09			ENSG00000181693	ENSG00000181693		"GPCR / Class A : Olfactory receptors"	14824	protein-coding gene	gene with protein product							Standard	NM_001005199		Approved		uc010rje.2	Q8NGG4	OTTHUMG00000162671	ENST00000313022.2:c.194A>C	11.37:g.56058345T>G	ENSP00000323595:p.His65Pro						p.H65P	NM_001005199.1	NP_001005199.1	Q8NGG4	OR8H1_HUMAN			1	221	-	Esophageal squamous(21;0.00448)		65					B2RNI7|Q6IFC5	Missense_Mutation	SNP	ENST00000313022.2	37	c.194A>C	CCDS31526.1	.	.	.	.	.	.	.	.	.	.	T	9.729	1.161721	0.21538	.	.	ENSG00000181693	ENST00000313022;ENST00000395186	T	0.02974	4.09	3.94	2.83	0.33086	GPCR, rhodopsin-like superfamily (1);	0.230003	0.31233	N	0.008008	T	0.11239	0.0274	M	0.89030	3	0.09310	N	1	P	0.52842	0.956	P	0.55391	0.775	T	0.02639	-1.1130	10	0.87932	D	0	.	7.3536	0.26706	0.0:0.1774:0.0:0.8226	.	65	Q8NGG4	OR8H1_HUMAN	P	65;61	ENSP00000323595:H65P	ENSP00000323595:H65P	H	-	2	0	OR8H1	55814921	0.000000	0.05858	0.010000	0.14722	0.002000	0.02628	0.631000	0.24568	1.744000	0.51775	0.445000	0.29226	CAC		0.423	OR8H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370019.1	NM_001005199		21	328	0	0	0	1	0	21	328					G	56058345	T	G	56058345	3	3	329	1	0	0	0	0	1	0	0	0	11237	1696	59	5	743	5	OR8H1	11	56058345	Missense_Mutation	SNP	T	TCGA-KK-A7B2-01A-12D-A32B-08	10230464	56058345	78948171	15	16784											
ACTN3	89	broad.mit.edu	37	chr11	66321555	66321555	+	RNA	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagatgaccctgggcatgaTctggaccatcatccttcgct	9	10	10	12	1	2	3	1	2	1	1	4	5	3	4	3	2	0	2	3	2	1	1			TCGA-KK-A7B2-01A-12D-A32B-08	TCGA-KK-A7B2-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	323679ff-5644-4826-9486-a60ba6b0431f	cf3e0850-c21c-4739-8085-7e278dded3cc	g.chr11:66321555T>A	ENST00000502692.1	+	0	667				ACTN3_ENST00000513398.1_RNA	NM_001258371.1	NP_001245300.1	Q08043	ACTN3_HUMAN	actinin, alpha 3 (gene/pseudogene)						focal adhesion assembly (GO:0048041)|muscle filament sliding (GO:0030049)|regulation of apoptotic process (GO:0042981)	actin filament (GO:0005884)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|pseudopodium (GO:0031143)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|protein homodimerization activity (GO:0042803)|structural constituent of muscle (GO:0008307)			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(2)	10						CTGGGCATGATCTGGACCATC	0.567																																						ENST00000513398.1																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(2)	10								actinin, alpha 3 (gene/pseudogene)							129	118	122					11																	66321555		2200	4295	6495			89				focal adhesion assembly|muscle filament sliding|regulation of apoptosis	actin filament|cytosol|focal adhesion|pseudopodium	actin binding|calcium ion binding|integrin binding|protein homodimerization activity|structural constituent of muscle	g.chr11:66321555T>A	M86407		11q13.2	2013-10-02	2012-10-05		ENSG00000248746	ENSG00000248746			165	protein-coding gene	gene with protein product		102574	"actinin, alpha 3"			1339456	Standard	NM_001104		Approved		uc031qbp.1	Q08043	OTTHUMG00000160815		11.37:g.66321555T>A						ACTN3_ENST00000502692.1_RNA		NM_001104.2	NP_001095.1	Q08043	ACTN3_HUMAN			0	519	+								A6NP77|Q4KKV2	RNA	SNP	ENST00000502692.1	37																																																																																						0.567	ACTN3-003	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000362465.1	NM_001104		5	43	0	0	0	1	0	5	43					A	66321555	T	A	66321555	1	1	329	0	1	0	0	0	0	0	0	0	206	1435	50	5		5	ACTN3	11	66321555	RNA	SNP	T	TCGA-KK-A7B2-01A-12D-A32B-08	10263210	66321555	68684961	16	16785											
CLPB	81570	broad.mit.edu	37	chr11	72040797	72040797	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tcatcacttccccttctcggGcataatccaagggtgtgtgt	7	13	9	12	1	3	0	2	0	1	0	6	0	5	0	3	2	0	1	3	2	2	3			TCGA-KK-A7B2-01A-12D-A32B-08	TCGA-KK-A7B2-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	323679ff-5644-4826-9486-a60ba6b0431f	cf3e0850-c21c-4739-8085-7e278dded3cc	g.chr11:72040797G>A	ENST00000294053.3	-	7	1090	c.917C>T	c.(916-918)gCc>gTc	p.A306V	CLPB_ENST00000340729.5_Missense_Mutation_p.A247V|CLPB_ENST00000543042.1_Missense_Mutation_p.A105V|CLPB_ENST00000538039.1_Missense_Mutation_p.A276V|CLPB_ENST00000437826.2_Missense_Mutation_p.A261V	NM_001258394.1|NM_030813.4	NP_001245323.1|NP_110440.1	Q9H078	CLPB_HUMAN	ClpB caseinolytic peptidase B homolog (E. coli)	306					cellular response to heat (GO:0034605)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)			endometrium(3)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	19						CCCTTCTCGGGCATAATCCAA	0.512																																						ENST00000294053.3																			0				endometrium(3)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	19						c.(916-918)gCc>gTc		ClpB caseinolytic peptidase B homolog (E. coli)							101	97	98					11																	72040797		2200	4293	6493	SO:0001583	missense	81570				cellular response to heat		ATP binding|nucleoside-triphosphatase activity|protein binding	g.chr11:72040797G>A	BC006404	CCDS8215.1, CCDS58152.1, CCDS58153.1, CCDS58154.1	11q13.4	2013-01-10			ENSG00000162129	ENSG00000162129		"Ankyrin repeat domain containing"	30664	protein-coding gene	gene with protein product	"suppressor of potassium transport defect 3"					11230166, 7835694	Standard	NM_030813		Approved	HSP78, SKD3, FLJ13152	uc010rqy.3	Q9H078	OTTHUMG00000167902	ENST00000294053.3:c.917C>T	11.37:g.72040797G>A	ENSP00000294053:p.Ala306Val					CLPB_ENST00000340729.5_Missense_Mutation_p.A247V|CLPB_ENST00000437826.2_Missense_Mutation_p.A261V|CLPB_ENST00000543042.1_Missense_Mutation_p.A105V|CLPB_ENST00000538039.1_Missense_Mutation_p.A276V	p.A306V	NM_001258394.1|NM_030813.4	NP_001245323.1|NP_110440.1	Q9H078	CLPB_HUMAN			7	1090	-			306					B4DXJ7|B4DXP7|E7EWN6|F8W7P6|Q8ND11|Q9H8Y0	Missense_Mutation	SNP	ENST00000294053.3	37	c.917C>T	CCDS8215.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.88|14.88	2.668689|2.668689	0.47677|0.47677	.|.	.|.	ENSG00000162129|ENSG00000162129	ENST00000294053;ENST00000538039;ENST00000535990;ENST00000340729;ENST00000437826;ENST00000543042;ENST00000544683|ENST00000544382	T;D;T;D;T;T;D|.	0.81739|.	0.5;-1.53;-0.77;-1.53;-0.77;-0.77;-1.53|.	5.36|5.36	5.36|5.36	0.76844|0.76844	Ankyrin repeat-containing domain (3);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.69441|0.69441	0.3111|0.3111	L|L	0.52011|0.52011	1.625|1.625	0.46279|0.46279	D|D	0.998968|0.998968	B;P;P;P;D|.	0.67145|.	0.248;0.708;0.875;0.708;0.996|.	B;B;P;B;D|.	0.66847|.	0.112;0.227;0.46;0.227;0.947|.	T|T	0.66348|0.66348	-0.5946|-0.5946	10|5	0.21540|.	T|.	0.41|.	-14.3764|-14.3764	17.6563|17.6563	0.88179|0.88179	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	105;247;261;276;306|.	B4DXW4;F8W7P6;E7EWN6;Q9H078-2;Q9H078|.	.;.;.;.;CLPB_HUMAN|.	V|S	306;276;311;247;261;105;130|84	ENSP00000294053:A306V;ENSP00000441518:A276V;ENSP00000443822:A311V;ENSP00000340385:A247V;ENSP00000407296:A261V;ENSP00000439746:A105V;ENSP00000442651:A130V|.	ENSP00000294053:A306V|.	A|P	-|-	2|1	0|0	CLPB|CLPB	71718445|71718445	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.228000|0.228000	0.25075|0.25075	7.379000|7.379000	0.79691|0.79691	2.495000|2.495000	0.84180|0.84180	0.655000|0.655000	0.94253|0.94253	GCC|CCC		0.512	CLPB-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000396889.1	NM_030813		3	49	0	0	0	1	0	3	49					A	72040797	G	A	72040797	3	1	329	1	0	0	0	0	1	0	0	0	3551	1203	42	3	1250	3	CLPB	11	72040797	Missense_Mutation	SNP	G	TCGA-KK-A7B2-01A-12D-A32B-08	5719242	72040797	62965719	17	16786											
ETS1	2113	broad.mit.edu	37	chr11	128426243	128426243	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agttgccatctcatcccaaaAggggtagcaaggtctttgct	10	11	10	10	0	2	0	1	0	2	0	4	0	3	0	2	3	3	4	2	3	4	3			TCGA-KK-A7B2-01A-12D-A32B-08	TCGA-KK-A7B2-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	323679ff-5644-4826-9486-a60ba6b0431f	cf3e0850-c21c-4739-8085-7e278dded3cc	g.chr11:128426243A>G	ENST00000392668.4	-	3	241	c.157T>C	c.(157-159)Ttt>Ctt	p.F53L	ETS1_ENST00000525404.1_5'UTR	NM_001143820.1	NP_001137292.1	P14921	ETS1_HUMAN	v-ets avian erythroblastosis virus E26 oncogene homolog 1	151	PNT. {ECO:0000255|PROSITE- ProRule:PRU00762}.				angiogenesis involved in wound healing (GO:0060055)|cell motility (GO:0048870)|cellular response to hydrogen peroxide (GO:0070301)|estrous cycle phase (GO:0060206)|female pregnancy (GO:0007565)|hypothalamus development (GO:0021854)|immune response (GO:0006955)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell proliferation (GO:0008285)|pituitary gland development (GO:0021983)|PML body organization (GO:0030578)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cellular component movement (GO:0051272)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of angiogenesis (GO:0045765)|regulation of apoptotic process (GO:0042981)|regulation of extracellular matrix disassembly (GO:0010715)|response to antibiotic (GO:0046677)|response to estradiol (GO:0032355)|response to hypoxia (GO:0001666)|response to interleukin-1 (GO:0070555)|response to laminar fluid shear stress (GO:0034616)|response to mechanical stimulus (GO:0009612)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|pleura(1)|prostate(1)|upper_aerodigestive_tract(3)	35	all_hematologic(175;0.0537)	Lung NSC(97;0.000542)|all_lung(97;0.000665)|Breast(109;0.00765)|all_neural(223;0.0351)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;1.47e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.0174)|LUSC - Lung squamous cell carcinoma(976;0.0815)|Lung(307;0.0833)		TCATCCCAAAAGGGGTAGCAA	0.448																																						ENST00000392668.3																			0				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|pleura(1)|prostate(1)|upper_aerodigestive_tract(3)	35						c.(157-159)Ttt>Ctt		v-ets avian erythroblastosis virus E26 oncogene homolog 1							155	134	140					11																	128426243		1566	3579	5145	SO:0001583	missense	2113				cell motility|immune response|induction of apoptosis|negative regulation of cell cycle|negative regulation of cell proliferation|PML body organization|positive regulation of cellular component movement|positive regulation of erythrocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|response to antibiotic|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding	g.chr11:128426243A>G		CCDS8475.1, CCDS44767.1, CCDS53724.1	11q23.3	2013-07-09	2013-07-09		ENSG00000134954	ENSG00000134954			3488	protein-coding gene	gene with protein product	"Avian erythroblastosis virus E26 (v-ets) oncogene homolog-1", "ets protein"	164720		EWSR2		1522903	Standard	NM_005238		Approved	FLJ10768, ETS-1	uc001qej.2	P14921	OTTHUMG00000165799	ENST00000392668.4:c.157T>C	11.37:g.128426243A>G	ENSP00000376436:p.Phe53Leu					ETS1_ENST00000525404.1_5'UTR	p.F53L	NM_001143820.1	NP_001137292.1	P14921	ETS1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.47e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.0174)|LUSC - Lung squamous cell carcinoma(976;0.0815)|Lung(307;0.0833)	3	225	-	all_hematologic(175;0.0537)	Lung NSC(97;0.000542)|all_lung(97;0.000665)|Breast(109;0.00765)|all_neural(223;0.0351)|Medulloblastoma(222;0.0425)	151			PNT.		A9UL17|F5GYX9|Q14278|Q16080|Q6N087|Q96AC5	Missense_Mutation	SNP	ENST00000392668.4	37	c.157T>C	CCDS44767.1	.	.	.	.	.	.	.	.	.	.	A	4.254	0.046125	0.08243	.	.	ENSG00000134954	ENST00000392668	T	0.08546	3.08	5.91	-0.172	0.13327	.	31.137600	0.02836	U	0.127298	T	0.04003	0.0112	.	.	.	0.18873	N	0.999987	B	0.02656	0.0	B	0.01281	0.0	T	0.36696	-0.9737	9	0.02654	T	1	.	9.9312	0.41523	0.4387:0.0:0.5613:0.0	.	53	Q6N087	.	L	53	ENSP00000376436:F53L	ENSP00000376436:F53L	F	-	1	0	ETS1	127931453	0.028000	0.19301	0.100000	0.21137	0.969000	0.65631	0.081000	0.14823	-0.052000	0.13311	0.533000	0.62120	TTT		0.448	ETS1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000386267.2	NM_005238		3	64	0	0	0	1	0	3	64					G	128426243	A	G	128426243	3	3	329	1	0	0	0	0	1	0	0	0	5275	72	3	4	1418	4	ETS1	11	128426243	Missense_Mutation	SNP	A	TCGA-KK-A7B2-01A-12D-A32B-08	56385446	128426243	6580273	18	16787											
GATC	8683	broad.mit.edu	37	chr12	120897761	120897761	+	IGR	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agagccattcccacacagctGagtagctcattctggaaagg	12	8	10	11	0	2	2	1	1	1	1	3	3	3	3	2	2	3	3	2	2	2	3			TCGA-KK-A7B2-01A-12D-A32B-08	TCGA-KK-A7B2-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	323679ff-5644-4826-9486-a60ba6b0431f	cf3e0850-c21c-4739-8085-7e278dded3cc	g.chr12:120897761G>C	ENST00000229390.3	-	0	1201				AL021546.6_ENST00000551806.1_Nonstop_Mutation_p.*168L|GATC_ENST00000551765.1_Nonstop_Mutation_p.*137S	NM_003769.2	NP_003760.1	Q13242	SRSF9_HUMAN	serine/arginine-rich splicing factor 9						gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|mRNA splice site selection (GO:0006376)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)|urinary_tract(1)	9						CCACACAGCTGAGTAGCTCAT	0.368																																						ENST00000551765.1																			0				breast(1)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	6						c.(409-411)tGa>tCa		glutamyl-tRNA(Gln) amidotransferase, subunit C							91	86	88					12																	120897761		2203	4300	6503	SO:0001628	intergenic_variant	283459				regulation of translational fidelity			g.chr12:120897761G>C	U30825	CCDS9199.1	12q24.31	2013-02-12	2010-06-22	2010-06-22	ENSG00000111786	ENSG00000111786		"Serine/arginine-rich splicing factors", "RNA binding motif (RRM) containing"	10791	protein-coding gene	gene with protein product	"SR splicing factor 9"	601943	"splicing factor, arginine/serine-rich 9"	SFRS9		7556075, 20516191	Standard	NM_003769		Approved	SRp30c	uc001tyi.3	Q13242	OTTHUMG00000047790		12.37:g.120897761G>C						AL021546.6_ENST00000551806.1_Nonstop_Mutation_p.*168L	p.*137S	NM_176818.2	NP_789788.1	O43716	GATCL_HUMAN			4	453	+	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		0					Q52LD1	Nonstop_Mutation	SNP	ENST00000229390.3	37	c.410G>C	CCDS9199.1	.	.	.	.	.	.	.	.	.	.	G	16.90	3.250768	0.59212	.	.	ENSG00000257218	ENST00000551765	.	.	.	5.11	3.26	0.37387	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.3699	0.21475	0.0918:0.0:0.7271:0.1811	.	.	.	.	S	137	.	.	X	+	2	2	AL021546.1	119382144	0.616000	0.27035	0.057000	0.19452	0.686000	0.39977	0.843000	0.27640	0.841000	0.35020	0.655000	0.94253	TGA		0.368	SRSF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000108983.2	NM_003769		5	58	0	0	0	1	0	5	58					C	120897761	G	C	120897761	1	2	329	0	1	0	0	0	0	0	0	0	6262	1285	45	5		5	GATC	12	120897761	IGR	SNP	G	TCGA-KK-A7B2-01A-12D-A32B-08		120897761	12954134	19	16788											
ADAMTS17	170691	broad.mit.edu	37	chr15	100537662	100537662	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ctctgcactgccgccggccgGgggcccgggcagtagagggg	4	4	19	14	4	1	1	0	0	1	1	1	1	1	1	4	6	2	3	4	6	1	1			TCGA-KK-A7B2-01A-12D-A32B-08	TCGA-KK-A7B2-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	323679ff-5644-4826-9486-a60ba6b0431f	cf3e0850-c21c-4739-8085-7e278dded3cc	g.chr15:100537662G>A	ENST00000268070.4	-	19	2829	c.2724C>T	c.(2722-2724)ccC>ccT	p.P908P		NM_139057.2	NP_620688.2	Q8TE56	ATS17_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 17	908	TSP type-1 3. {ECO:0000255|PROSITE- ProRule:PRU00210}.					proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)	50	Lung NSC(78;0.00299)|all_lung(78;0.00457)|Melanoma(26;0.00571)		OV - Ovarian serous cystadenocarcinoma(32;0.0013)|LUSC - Lung squamous cell carcinoma(107;0.132)|Lung(145;0.161)	COAD - Colon adenocarcinoma(1;0.111)|all cancers(203;0.219)		ccgccggccgggggcccgggc	0.672																																						ENST00000268070.4																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)	50						c.(2722-2724)ccC>ccT		ADAM metallopeptidase with thrombospondin type 1 motif, 17							26	29	28					15																	100537662		2202	4299	6501	SO:0001819	synonymous_variant	170691				proteolysis	intracellular|proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr15:100537662G>A	AJ315735	CCDS10383.1	15q24	2014-01-28	2005-08-19		ENSG00000140470	ENSG00000140470		"ADAM metallopeptidases with thrombospondin type 1 motif"	17109	protein-coding gene	gene with protein product		607511	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 17"			11867212	Standard	NM_139057		Approved	FLJ32769, FLJ16363	uc002bvv.1	Q8TE56	OTTHUMG00000149867	ENST00000268070.4:c.2724C>T	15.37:g.100537662G>A							p.P908P	NM_139057.2	NP_620688.2	Q8TE56	ATS17_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.0013)|LUSC - Lung squamous cell carcinoma(107;0.132)|Lung(145;0.161)	COAD - Colon adenocarcinoma(1;0.111)|all cancers(203;0.219)	19	2829	-	Lung NSC(78;0.00299)|all_lung(78;0.00457)|Melanoma(26;0.00571)		908			TSP type-1 3.		Q2I7G4|Q6ZN75	Silent	SNP	ENST00000268070.4	37	c.2724C>T	CCDS10383.1																																																																																				0.672	ADAMTS17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313595.1	NM_139057		3	27	0	0	0	1	0	3	27					A	100537662	G	A	100537662	2	1	329	1	0	0	0	0	0	0	0	1	262	1219	43	3		3	ADAMTS17	15	100537662	Silent	SNP	G	TCGA-KK-A7B2-01A-12D-A32B-08		100537662	1993730	20	16789											
PPL	5493	broad.mit.edu	37	chr16	4933905	4933905	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcgctgccatgttgatttccGattggagccttcgggtctcc	4	14	11	12	3	1	1	0	1	1	0	5	3	2	2	4	2	2	2	4	2	0	4			TCGA-KK-A7B2-01A-12D-A32B-08	TCGA-KK-A7B2-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	323679ff-5644-4826-9486-a60ba6b0431f	cf3e0850-c21c-4739-8085-7e278dded3cc	g.chr16:4933905G>A	ENST00000345988.2	-	22	4840	c.4751C>T	c.(4750-4752)tCg>tTg	p.S1584L	PPL_ENST00000590782.2_Missense_Mutation_p.S1582L	NM_002705.4	NP_002696	O60437	PEPL_HUMAN	periplakin	1584					keratinization (GO:0031424)	cell junction (GO:0030054)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)			breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2)	62						GTTGATTTCCGATTGGAGCCT	0.542																																						ENST00000345988.2																			0				breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2)	62						c.(4750-4752)tCg>tTg		periplakin							122	120	121					16																	4933905		2197	4300	6497	SO:0001583	missense	5493				keratinization	cytoskeleton|desmosome|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton	g.chr16:4933905G>A	AF013717	CCDS10526.1	16p13.3	2008-02-05			ENSG00000118898	ENSG00000118898			9273	protein-coding gene	gene with protein product		602871				9570964, 9521878	Standard	NM_002705		Approved		uc002cyd.1	O60437	OTTHUMG00000129528	ENST00000345988.2:c.4751C>T	16.37:g.4933905G>A	ENSP00000340510:p.Ser1584Leu					PPL_ENST00000590782.2_Missense_Mutation_p.S1582L	p.S1584L	NM_002705.4	NP_002696.3	O60437	PEPL_HUMAN			22	4840	-			1584					O60314|O60454|Q14C98	Missense_Mutation	SNP	ENST00000345988.2	37	c.4751C>T	CCDS10526.1	.	.	.	.	.	.	.	.	.	.	G	16.06	3.017088	0.54576	.	.	ENSG00000118898	ENST00000345988	T	0.52983	0.64	5.83	5.83	0.93111	.	0.150032	0.46758	D	0.000266	T	0.49490	0.1560	M	0.65975	2.015	0.80722	D	1	P	0.48016	0.904	B	0.38428	0.273	T	0.55016	-0.8206	10	0.48119	T	0.1	.	20.1184	0.97949	0.0:0.0:1.0:0.0	.	1584	O60437	PEPL_HUMAN	L	1584	ENSP00000340510:S1584L	ENSP00000340510:S1584L	S	-	2	0	PPL	4873906	0.998000	0.40836	0.721000	0.30653	0.670000	0.39368	7.848000	0.86902	2.769000	0.95229	0.655000	0.94253	TCG		0.542	PPL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251715.1	NM_002705		11	110	0	0	0	1	0	11	110					A	4933905	G	A	4933905	3	1	329	1	0	0	0	0	1	0	0	0	12334	1059	37	2	523	2	PPL	16	4933905	Missense_Mutation	SNP	G	TCGA-KK-A7B2-01A-12D-A32B-08		4933905	85420848	21	16790											
ATF7IP2	80063	broad.mit.edu	37	chr16	10532037	10532037	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	actgaaagaattgaaccaacGcattgggaagacagagtgca	17	6	11	7	1	0	5	0	2	0	3	0	6	0	6	1	1	3	2	1	1	5	2			TCGA-KK-A7B2-01A-12D-A32B-08	TCGA-KK-A7B2-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	323679ff-5644-4826-9486-a60ba6b0431f	cf3e0850-c21c-4739-8085-7e278dded3cc	g.chr16:10532037G>A	ENST00000396560.2	+	5	1267	c.1040G>A	c.(1039-1041)cGc>cAc	p.R347H	ATF7IP2_ENST00000356427.2_Missense_Mutation_p.R347H|ATF7IP2_ENST00000396559.1_Missense_Mutation_p.R347H|ATF7IP2_ENST00000324570.5_Missense_Mutation_p.R347H|ATF7IP2_ENST00000543967.1_Intron	NM_024997.3	NP_079273.2	Q5U623	MCAF2_HUMAN	activating transcription factor 7 interacting protein 2	347					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				large_intestine(3)	3						TTGAACCAACGCATTGGGAAG	0.333																																						ENST00000396560.2																			0				large_intestine(3)	3						c.(1039-1041)cGc>cAc		activating transcription factor 7 interacting protein 2							138	136	137					16																	10532037		2197	4300	6497	SO:0001583	missense	80063				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chr16:10532037G>A	AK022730	CCDS10540.1, CCDS58422.1	16p13.2	2008-02-05			ENSG00000166669	ENSG00000166669			20397	protein-coding gene	gene with protein product		613645					Standard	NM_001256160		Approved	FLJ12668	uc002czu.3	Q5U623	OTTHUMG00000129749	ENST00000396560.2:c.1040G>A	16.37:g.10532037G>A	ENSP00000379808:p.Arg347His					ATF7IP2_ENST00000324570.5_Missense_Mutation_p.R347H|ATF7IP2_ENST00000396559.1_Missense_Mutation_p.R347H|ATF7IP2_ENST00000543967.1_Intron|ATF7IP2_ENST00000356427.2_Missense_Mutation_p.R347H	p.R347H	NM_024997.3	NP_079273.2	Q5U623	MCAF2_HUMAN			5	1267	+			347					B2RNR2|Q53EZ7|Q658U2|Q6IS97|Q8N9X8|Q9H9L6	Missense_Mutation	SNP	ENST00000396560.2	37	c.1040G>A	CCDS10540.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.340217	0.81911	.	.	ENSG00000166669	ENST00000396559;ENST00000396560;ENST00000535850;ENST00000356427;ENST00000324570	T;T;T;T;T	0.45276	0.9;0.9;0.9;0.9;0.9	5.55	5.55	0.83447	.	0.213702	0.33534	N	0.004814	T	0.61223	0.2330	L	0.58101	1.795	0.41635	D	0.989044	D;D	0.89917	1.0;0.993	D;P	0.91635	0.999;0.842	T	0.63646	-0.6590	10	0.87932	D	0	-0.259	15.0123	0.71557	0.0:0.0:1.0:0.0	.	347;347	Q5U623-2;Q5U623	.;MCAF2_HUMAN	H	347	ENSP00000379807:R347H;ENSP00000379808:R347H;ENSP00000440791:R347H;ENSP00000348799:R347H;ENSP00000322811:R347H	ENSP00000322811:R347H	R	+	2	0	ATF7IP2	10439538	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	4.735000	0.62051	2.602000	0.87976	0.650000	0.86243	CGC		0.333	ATF7IP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251961.1	NM_024997		10	106	0	0	0	1	0	10	106					A	10532037	G	A	10532037	3	1	329	1	0	0	0	0	1	0	0	0	1088	1087	38	1	1050	1	ATF7IP2	16	10532037	Missense_Mutation	SNP	G	TCGA-KK-A7B2-01A-12D-A32B-08	5598132	10532037	79822716	22	16791											
LAT	27040	broad.mit.edu	37	chr16	28997053	28997053	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctcctacgacagcacatcCtcagataggtgagtccgccc	9	7	10	15	2	1	2	1	1	0	1	4	3	4	2	4	2	2	2	4	2	2	2			TCGA-KK-A7B2-01A-12D-A32B-08	TCGA-KK-A7B2-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	323679ff-5644-4826-9486-a60ba6b0431f	cf3e0850-c21c-4739-8085-7e278dded3cc	g.chr16:28997053C>G	ENST00000360872.5	+	2	198	c.120C>G	c.(118-120)tcC>tcG	p.S40S	LAT_ENST00000395456.2_Silent_p.S40S|RP11-264B17.3_ENST00000569969.1_RNA|LAT_ENST00000566177.1_Silent_p.S40S|LAT_ENST00000563964.1_3'UTR|LAT_ENST00000354453.4_Silent_p.S40S|LAT_ENST00000395461.3_Silent_p.S76S|LAT_ENST00000454369.2_Silent_p.S40S|LAT_ENST00000564277.1_Silent_p.S40S			O43561	LAT_HUMAN	linker for activation of T cells	40					blood coagulation (GO:0007596)|calcium-mediated signaling (GO:0019722)|Fc-epsilon receptor signaling pathway (GO:0038095)|gene expression (GO:0010467)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|intracellular signal transduction (GO:0035556)|lymphocyte homeostasis (GO:0002260)|mast cell degranulation (GO:0043303)|platelet activation (GO:0030168)|positive regulation of signal transduction (GO:0009967)|Ras protein signal transduction (GO:0007265)|regulation of T cell activation (GO:0050863)|T cell activation (GO:0042110)|T cell receptor signaling pathway (GO:0050852)	cell-cell junction (GO:0005911)|COP9 signalosome (GO:0008180)|immunological synapse (GO:0001772)|integral component of membrane (GO:0016021)|mast cell granule (GO:0042629)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|SH3/SH2 adaptor activity (GO:0005070)			large_intestine(2)|lung(3)|urinary_tract(1)	6		Hepatocellular(780;0.244)				ACAGCACATCCTCAGATAGGT	0.657																																						ENST00000395456.2																			0				large_intestine(2)|lung(3)|urinary_tract(1)	6						c.(118-120)tcC>tcG		linker for activation of T cells							127	143	138					16																	28997053		2197	4300	6497	SO:0001819	synonymous_variant	0				calcium-mediated signaling|integrin-mediated signaling pathway|mast cell degranulation|platelet activation|Ras protein signal transduction|regulation of T cell activation|T cell receptor signaling pathway	immunological synapse|integral to membrane|intracellular|membrane raft	SH3/SH2 adaptor activity	g.chr16:28997053C>G	AF036905	CCDS10647.1, CCDS32425.1, CCDS45455.1, CCDS53999.1	16q13	2011-11-01			ENSG00000213658	ENSG00000213658			18874	protein-coding gene	gene with protein product	"linker for activation of T cells, transmembrane adaptor"	602354				9489702	Standard	NM_014387		Approved	LAT1	uc010vdj.2	O43561	OTTHUMG00000131761	ENST00000360872.5:c.120C>G	16.37:g.28997053C>G						LAT_ENST00000395461.3_Silent_p.S76S|LAT_ENST00000360872.5_Silent_p.S40S|LAT_ENST00000354453.4_Silent_p.S40S|LAT_ENST00000563964.1_3'UTR|LAT_ENST00000454369.2_Silent_p.S40S|LAT_ENST00000564277.1_Silent_p.S40S|LAT_ENST00000566177.1_Silent_p.S40S|RP11-264B17.3_ENST00000569969.1_RNA	p.S40S	NM_001014987.1|NM_001014988.1|NM_014387.3	NP_001014987.1|NP_001014988.1|NP_055202.1	O43561	LAT_HUMAN			2	442	+		Hepatocellular(780;0.244)	40					B7WPI0|C7C5T6|G5E9K3|O43919	Silent	SNP	ENST00000360872.5	37	c.120C>G	CCDS10647.1																																																																																				0.657	LAT-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254688.2			12	212	0	0	0	1	0	12	212					G	28997053	C	G	28997053	2	3	329	1	0	0	0	0	0	0	0	1	8644	668	24	5		5	LAT	16	28997053	Silent	SNP	C	TCGA-KK-A7B2-01A-12D-A32B-08	18465016	28997053	61357700	23	16792											
ASPHD1	253982	broad.mit.edu	37	chr16	29913067	29913067	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctgctgtaccaagcaggcCggtgccaacccagcaactgc	9	6	10	16	1	0	0	0	0	0	0	1	0	1	0	5	2	8	4	5	2	4	1			TCGA-KK-A7B2-01A-12D-A32B-08	TCGA-KK-A7B2-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	323679ff-5644-4826-9486-a60ba6b0431f	cf3e0850-c21c-4739-8085-7e278dded3cc	g.chr16:29913067C>T	ENST00000308748.5	+	1	1027	c.775C>T	c.(775-777)Cgg>Tgg	p.R259W	ASPHD1_ENST00000483405.1_5'UTR|SEZ6L2_ENST00000308713.5_5'Flank|SEZ6L2_ENST00000350527.3_5'Flank|SEZ6L2_ENST00000537485.1_5'Flank|SEZ6L2_ENST00000346932.5_5'Flank	NM_181718.3	NP_859069.2	Q5U4P2	ASPH1_HUMAN	aspartate beta-hydroxylase domain containing 1	259					peptidyl-amino acid modification (GO:0018193)	integral component of membrane (GO:0016021)	dioxygenase activity (GO:0051213)			endometrium(4)|large_intestine(2)|lung(1)|prostate(1)	8						CCAAGCAGGCCGGTGCCAACC	0.672																																						ENST00000308748.5																			0				endometrium(4)|large_intestine(2)|lung(1)|prostate(1)	8						c.(775-777)Cgg>Tgg		aspartate beta-hydroxylase domain containing 1							17	19	18					16																	29913067		2185	4283	6468	SO:0001583	missense	253982				peptidyl-amino acid modification	integral to endoplasmic reticulum membrane	oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptide-aspartate beta-dioxygenase activity	g.chr16:29913067C>T	AF070642	CCDS10660.1	16p11.2	2008-02-05			ENSG00000174939	ENSG00000174939			27380	protein-coding gene	gene with protein product							Standard	NM_181718		Approved		uc002dut.3	Q5U4P2	OTTHUMG00000132121	ENST00000308748.5:c.775C>T	16.37:g.29913067C>T	ENSP00000311447:p.Arg259Trp					ASPHD1_ENST00000483405.1_5'UTR	p.R259W	NM_181718.3	NP_859069.2	Q5U4P2	ASPH1_HUMAN			1	1027	+			259					A0AVE3|B7ZLZ3|Q8IW63|Q8N316|Q96H00	Missense_Mutation	SNP	ENST00000308748.5	37	c.775C>T	CCDS10660.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.187022	0.78789	.	.	ENSG00000174939	ENST00000414952;ENST00000308748	T;T	0.46451	0.87;0.87	5.74	2.51	0.30379	.	0.280686	0.30151	N	0.010281	T	0.40791	0.1131	L	0.52126	1.63	0.33644	D	0.607568	D	0.71674	0.998	P	0.53185	0.72	T	0.54925	-0.8220	10	0.66056	D	0.02	-11.007	1.5232	0.02520	0.3234:0.3818:0.1313:0.1636	.	259	Q5U4P2	ASPH1_HUMAN	W	259	ENSP00000388036:R259W;ENSP00000311447:R259W	ENSP00000311447:R259W	R	+	1	2	ASPHD1	29820568	0.995000	0.38212	1.000000	0.80357	0.998000	0.95712	0.219000	0.17641	0.736000	0.32559	0.563000	0.77884	CGG		0.672	ASPHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255163.2	NM_181718		4	18	0	0	0	1	0	4	18					T	29913067	C	T	29913067	3	4	329	1	0	0	0	0	1	0	0	0	1054	643	23	2	777	2	ASPHD1	16	29913067	Missense_Mutation	SNP	C	TCGA-KK-A7B2-01A-12D-A32B-08	916014	29913067	60441686	24	16793											
PGS1	9489	broad.mit.edu	37	chr17	76394348	76394348	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggtaggtggactgcctggaaAgtactctagaaaagtcactc	12	9	12	8	0	2	1	1	0	1	1	3	3	2	3	1	4	2	2	1	4	6	3			TCGA-KK-A7B2-01A-12D-A32B-08	TCGA-KK-A7B2-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	323679ff-5644-4826-9486-a60ba6b0431f	cf3e0850-c21c-4739-8085-7e278dded3cc	g.chr17:76394348A>G	ENST00000262764.6	+	4	453	c.427A>G	c.(427-429)Agt>Ggt	p.S143G	PGS1_ENST00000329897.7_Missense_Mutation_p.S8G|SNORA30_ENST00000363193.1_RNA	NM_024419.3	NP_077733.3	Q32NB8	PGPS1_HUMAN	phosphatidylglycerophosphate synthase 1	143					cardiolipin biosynthetic process (GO:0032049)|diacylglycerol metabolic process (GO:0046339)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylglycerol biosynthetic process (GO:0006655)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|CDP-diacylglycerol-glycerol-3-phosphate 3-phosphatidyltransferase activity (GO:0008444)			cervix(2)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)|urinary_tract(1)	10			BRCA - Breast invasive adenocarcinoma(99;0.00144)|OV - Ovarian serous cystadenocarcinoma(97;0.031)			CTGCCTGGAAAGTACTCTAGA	0.448																																					Esophageal Squamous(45;182 1126 10685 43198)	ENST00000262764.6																			0				cervix(2)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)|urinary_tract(1)	10						c.(427-429)Agt>Ggt		phosphatidylglycerophosphate synthase 1							179	190	187					17																	76394348		1888	4108	5996	SO:0001583	missense	9489				phospholipid biosynthetic process	endoplasmic reticulum|mitochondrion	ATP binding|CDP-diacylglycerol-glycerol-3-phosphate 3-phosphatidyltransferase activity	g.chr17:76394348A>G		CCDS42391.1	17q25.3	2006-02-09							30029	protein-coding gene	gene with protein product		614942				9880566	Standard	XR_243691		Approved	DKFZP762M186	uc002jvm.3	Q32NB8		ENST00000262764.6:c.427A>G	17.37:g.76394348A>G	ENSP00000262764:p.Ser143Gly					PGS1_ENST00000329897.7_Missense_Mutation_p.S8G	p.S143G	NM_024419.3	NP_077733.3	Q32NB8	PGPS1_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.00144)|OV - Ovarian serous cystadenocarcinoma(97;0.031)		4	453	+			143					B7ZA32|Q8IYK9|Q8TA85|Q96A75|Q9H7G9|Q9NPW7	Missense_Mutation	SNP	ENST00000262764.6	37	c.427A>G	CCDS42391.1	.	.	.	.	.	.	.	.	.	.	A	11.40	1.628719	0.28978	.	.	ENSG00000087157	ENST00000262764;ENST00000329897;ENST00000335081	T	0.22336	1.96	5.56	4.48	0.54585	.	0.307372	0.34750	N	0.003703	T	0.13628	0.0330	N	0.25890	0.77	0.26426	N	0.976013	B	0.26775	0.159	B	0.24848	0.056	T	0.18366	-1.0339	10	0.33141	T	0.24	-17.3916	7.9024	0.29742	0.8259:0.0:0.1741:0.0	.	143	Q32NB8	PGPS1_HUMAN	G	143;8;8	ENSP00000262764:S143G	ENSP00000262764:S143G	S	+	1	0	PGS1	73905943	1.000000	0.71417	0.999000	0.59377	0.619000	0.37552	2.772000	0.47678	0.931000	0.37242	0.533000	0.62120	AGT		0.448	PGS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437301.1	NM_024419		14	205	0	0	0	1	0	14	205					G	76394348	A	G	76394348	3	3	329	1	0	0	0	0	1	0	0	0	11808	72	3	4	441	4	PGS1	17	76394348	Missense_Mutation	SNP	A	TCGA-KK-A7B2-01A-12D-A32B-08		76394348	4800862	25	16794											
FOSB	2354	broad.mit.edu	37	chr19	45974106	45974106	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgagtggctacagcagtggcGgagcgagtggcagtggtggg	7	7	21	6	2	0	1	0	1	0	0	0	3	0	2	0	6	3	3	0	6	1	1	rs143780767		TCGA-KK-A7B2-01A-12D-A32B-08	TCGA-KK-A7B2-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	323679ff-5644-4826-9486-a60ba6b0431f	cf3e0850-c21c-4739-8085-7e278dded3cc	g.chr19:45974106G>A	ENST00000353609.3	+	2	938	c.346G>A	c.(346-348)Gga>Aga	p.G116R	FOSB_ENST00000590335.1_Missense_Mutation_p.G116R|FOSB_ENST00000443841.2_Intron|FOSB_ENST00000592436.1_Missense_Mutation_p.G116R|FOSB_ENST00000585836.1_Missense_Mutation_p.G77R|FOSB_ENST00000591858.1_Missense_Mutation_p.G77R|FOSB_ENST00000586615.1_Missense_Mutation_p.G67R|FOSB_ENST00000417353.2_Missense_Mutation_p.G116R|ERCC1_ENST00000423698.2_Intron|FOSB_ENST00000592811.1_Missense_Mutation_p.G67R	NM_006732.2	NP_006723.2	P53539	FOSB_HUMAN	FBJ murine osteosarcoma viral oncogene homolog B	116					cellular response to calcium ion (GO:0071277)|cellular response to hormone stimulus (GO:0032870)|female pregnancy (GO:0007565)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|response to cAMP (GO:0051591)|response to corticosterone (GO:0051412)|response to drug (GO:0042493)|response to mechanical stimulus (GO:0009612)|response to morphine (GO:0043278)|response to progesterone (GO:0032570)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|pancreas(1)	13		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00814)|Epithelial(262;0.18)|GBM - Glioblastoma multiforme(486;0.242)		CAGCAGTGGCGGAGCGAGTGG	0.701																																						ENST00000353609.3																			0				NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|pancreas(1)	13						c.(346-348)Gga>Aga		FBJ murine osteosarcoma viral oncogene homolog B			ARG/GLY,ARG/GLY	0,4406		0,0,2203	60	70	67		346,346	3.6	1	19	dbSNP_134	67	1,8597	1.2+/-3.3	0,1,4298	no	missense,missense	FOSB	NM_001114171.1,NM_006732.2	125,125	0,1,6501	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging	116/303,116/339	45974106	1,13003	2203	4299	6502	SO:0001583	missense	2354				behavior|multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding	g.chr19:45974106G>A		CCDS12664.1, CCDS46113.1	19q13.3	2013-01-10						"basic leucine zipper proteins"	3797	protein-coding gene	gene with protein product	"oncogene FOS-B", "activator protein 1"	164772				1301997	Standard	NM_006732		Approved	G0S3, GOSB, GOS3, AP-1, MGC42291, DKFZp686C0818	uc002pbx.4	P53539		ENST00000353609.3:c.346G>A	19.37:g.45974106G>A	ENSP00000245919:p.Gly116Arg					FOSB_ENST00000586615.1_Missense_Mutation_p.G67R|FOSB_ENST00000585836.1_Missense_Mutation_p.G77R|FOSB_ENST00000443841.2_Intron|ERCC1_ENST00000423698.2_Intron|FOSB_ENST00000592436.1_Missense_Mutation_p.G116R|FOSB_ENST00000592811.1_Missense_Mutation_p.G67R|FOSB_ENST00000590335.1_Missense_Mutation_p.G116R|FOSB_ENST00000417353.2_Missense_Mutation_p.G116R|FOSB_ENST00000591858.1_Missense_Mutation_p.G77R	p.G116R	NM_006732.2	NP_006723.2	P53539	FOSB_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00814)|Epithelial(262;0.18)|GBM - Glioblastoma multiforme(486;0.242)	2	938	+		Ovarian(192;0.051)|all_neural(266;0.112)	116					A8K9K5|A8VJE1|A8VJE6|A8VJF0|A8VJF3|A8VJF7|A8VJG1|A8VJG5|A8VJG9|E7EPR6|E9PHJ3|K7EMJ6|Q49AD7	Missense_Mutation	SNP	ENST00000353609.3	37	c.346G>A	CCDS12664.1	.	.	.	.	.	.	.	.	.	.	G	17.35	3.368611	0.61624	0.0	1.16E-4	ENSG00000125740	ENST00000353609;ENST00000417353;ENST00000455928	T;T	0.66638	-0.22;-0.22	3.63	3.63	0.41609	.	.	.	.	.	T	0.59473	0.2196	L	0.34521	1.04	0.29827	N	0.830355	B;P;B;B;P	0.51057	0.366;0.499;0.216;0.366;0.941	B;B;B;B;P	0.47402	0.023;0.032;0.032;0.023;0.546	T	0.54483	-0.8287	9	0.30078	T	0.28	-6.4218	11.0852	0.48082	0.0:0.0:1.0:0.0	.	77;77;116;116;116	A8VJF0;A8VJF3;E9PHJ3;P53539;A8VJE1	.;.;.;FOSB_HUMAN;.	R	116	ENSP00000245919:G116R;ENSP00000407207:G116R	ENSP00000245919:G116R	G	+	1	0	FOSB	50665946	0.009000	0.17119	0.975000	0.42487	0.993000	0.82548	0.766000	0.26560	2.335000	0.79485	0.561000	0.74099	GGA		0.701	FOSB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459561.1	NM_006732		9	100	0	0	0	1	0	9	100					A	45974106	G	A	45974106	3	1	329	1	0	0	0	0	1	0	0	0	5986	1117	39	2	352	2	FOSB	19	45974106	Missense_Mutation	SNP	G	TCGA-KK-A7B2-01A-12D-A32B-08		45974106	13154877	26	16795											
ZMYM3	9203	broad.mit.edu	37	chrX	70465642	70465642	+	Frame_Shift_Del	DEL	A	A	-																															agctcctcaatggtctctacAatcttgtctgtgctctccaa																										TCGA-KK-A7B2-01A-12D-A32B-08	TCGA-KK-A7B2-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	323679ff-5644-4826-9486-a60ba6b0431f	cf3e0850-c21c-4739-8085-7e278dded3cc	g.chrX:70465642delA	ENST00000353904.2	-	17	2923	c.2736delT	c.(2734-2736)attfs	p.I912fs	ZMYM3_ENST00000373998.1_Frame_Shift_Del_p.I900fs|ZMYM3_ENST00000489332.1_5'UTR|ZMYM3_ENST00000314425.5_Frame_Shift_Del_p.I912fs|ZMYM3_ENST00000373988.1_Frame_Shift_Del_p.I914fs|ZMYM3_ENST00000373984.3_Frame_Shift_Del_p.I914fs	NM_005096.3	NP_005087.1	Q14202	ZMYM3_HUMAN	zinc finger, MYM-type 3	912					cytoskeleton organization (GO:0007010)|multicellular organismal development (GO:0007275)|regulation of cell morphogenesis (GO:0022604)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(7)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(17)|ovary(1)|prostate(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(35;0.156)					TGGTCTCTACAATCTTGTCTG	0.532																																						ENST00000373998.1																			0				breast(1)|central_nervous_system(7)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(17)|ovary(1)|prostate(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						c.(2698-2700)atfs		zinc finger, MYM-type 3							139	104	116					X																	70465642		2203	4300	6503	SO:0001589	frameshift_variant	9203				multicellular organismal development	nucleus	DNA binding|zinc ion binding	g.chrX:70465642delA	AB002383	CCDS14409.1, CCDS55443.1, CCDS55444.1	Xq13.1	2013-01-08	2005-12-19	2005-12-19	ENSG00000147130	ENSG00000147130		"Zinc fingers, MYM type"	13054	protein-coding gene	gene with protein product		300061	"zinc finger protein 261"	ZNF261		10486218	Standard	NM_201599		Approved	ZNF198L2, DXS6673E, KIAA0385, MYM	uc004dzh.2	Q14202	OTTHUMG00000021799	ENST00000353904.2:c.2736delT	X.37:g.70465642delA	ENSP00000343909:p.Ile912fs					ZMYM3_ENST00000314425.5_Frame_Shift_Del_p.I912fs|ZMYM3_ENST00000373988.1_Frame_Shift_Del_p.I914fs|ZMYM3_ENST00000489332.1_5'UTR|ZMYM3_ENST00000373984.3_Frame_Shift_Del_p.I914fs|ZMYM3_ENST00000353904.2_Frame_Shift_Del_p.I912fs	p.I900fs	NM_001171162.1	NP_001164633.1	Q14202	ZMYM3_HUMAN			17	3397	-	Renal(35;0.156)		912					D3DVV3|O15089|Q96E26	Frame_Shift_Del	DEL	ENST00000353904.2	37	c.2700delT	CCDS14409.1																																																																																				0.532	ZMYM3-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000057154.1	NM_201599		8	26						8	26	---	---	---	---	-	70465642	A	-	70465642	7	5	329	1	0	1	0	1	0	0	0	0	17698	126	5	0	1412	0	ZMYM3	23	70465642	Frame_Shift_Del	DEL	A	TCGA-KK-A7B2-01A-12D-A32B-08		70465642	84804918	27	16796											
AMOT	154796	broad.mit.edu	37	chrX	112022477	112022479	+	In_Frame_Del	DEL	CAG	CAG	-																															agcagctggagcaacctgaaCagcagcagcagcagcagcag																										TCGA-KK-A7B2-01A-12D-A32B-08	TCGA-KK-A7B2-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	323679ff-5644-4826-9486-a60ba6b0431f	cf3e0850-c21c-4739-8085-7e278dded3cc	g.chrX:112022477_112022479delCAG	ENST00000524145.1	-	11	2977_2979	c.2903_2905delCTG	c.(2902-2907)gctgtt>gtt	p.A968del	AMOT_ENST00000371959.3_In_Frame_Del_p.A968del|AMOT_ENST00000304758.1_In_Frame_Del_p.A559del|AMOT_ENST00000371962.1_In_Frame_Del_p.A736del|MIR4329_ENST00000582643.1_RNA			Q4VCS5	AMOT_HUMAN	angiomotin	968					actin cytoskeleton organization (GO:0030036)|blood vessel endothelial cell migration (GO:0043534)|cell migration involved in gastrulation (GO:0042074)|cell-cell junction assembly (GO:0007043)|cellular protein localization (GO:0034613)|chemotaxis (GO:0006935)|establishment of cell polarity involved in ameboidal cell migration (GO:0003365)|gastrulation with mouth forming second (GO:0001702)|hippo signaling (GO:0035329)|in utero embryonic development (GO:0001701)|negative regulation of angiogenesis (GO:0016525)|negative regulation of GTPase activity (GO:0034260)|negative regulation of vascular permeability (GO:0043116)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell size (GO:0045793)|positive regulation of embryonic development (GO:0040019)|positive regulation of stress fiber assembly (GO:0051496)|regulation of cell migration (GO:0030334)|regulation of small GTPase mediated signal transduction (GO:0051056)|vasculogenesis (GO:0001570)	actin filament (GO:0005884)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|ruffle (GO:0001726)|stress fiber (GO:0001725)|tight junction (GO:0005923)	angiostatin binding (GO:0043532)|receptor activity (GO:0004872)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	43						GCAACCTGAAcagcagcagcagc	0.616																																						ENST00000371959.3																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	43						c.(2902-2907)gtt>g		angiomotin			,	74,3566		3,51,17,1518,479					,	2.9	1			18	171,6163		0,105,66,2221,1616	no	coding,coding	AMOT	NM_133265.2,NM_001113490.1	,	3,156,83,3739,2095	A1A1,A1R,A1,RR,R		2.6997,2.033,2.4564	,	,		245,9729				SO:0001651	inframe_deletion	154796				actin cytoskeleton organization|cell-cell junction assembly|negative regulation of angiogenesis|negative regulation of vascular permeability|positive regulation of blood vessel endothelial cell migration|positive regulation of cell size|positive regulation of stress fiber assembly|regulation of cell migration	actin filament|cell surface|cytoplasm|endocytic vesicle|external side of plasma membrane|integral to membrane|lamellipodium|ruffle|stress fiber|tight junction	angiostatin binding|protein binding|receptor activity	g.chrX:112022477_112022479delCAG	AB028994	CCDS14563.1, CCDS48154.1	Xq23	2006-02-08			ENSG00000126016	ENSG00000126016			17810	protein-coding gene	gene with protein product		300410				11257124, 16043488, 12406577	Standard	NM_001113490		Approved	KIAA1071	uc004epr.3	Q4VCS5	OTTHUMG00000022216	ENST00000524145.1:c.2903_2905delCTG	X.37:g.112022486_112022488delCAG	ENSP00000429013:p.Ala968del					AMOT_ENST00000524145.1_In_Frame_Del_p.AV968del|AMOT_ENST00000304758.1_In_Frame_Del_p.AV559del|AMOT_ENST00000371962.1_In_Frame_Del_p.AV736del	p.AV968del	NM_001113490.1	NP_001106962.1	Q4VCS5	AMOT_HUMAN			10	2902_2904	-			968					Q504X5|Q9HD27|Q9UPT1	In_Frame_Del	DEL	ENST00000524145.1	37	c.2903_2905delCTG	CCDS48154.1																																																																																				0.616	AMOT-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000378570.1	NM_133265		2	4						2	4	---	---	---	---	-	112022479	CAG	-	112022477	7	5	329	1	0	1	0	1	0	0	0	0	582	478	17	0	357	0	AMOT	23	112022477	In_Frame_Del	DEL	CAG	TCGA-KK-A7B2-01A-12D-A32B-08	41556835	112022477	43248083	28	16797											
NTRK1	4914	broad.mit.edu	37	chr1	156849931	156849936	+	In_Frame_Del	DEL	CCAGCT	CCAGCT	-																															tacggcaagcagccctggtaCcagctctccaacacggaggt																								rs557254719		TCGA-KK-A7B3-01A-11D-A33T-08	TCGA-KK-A7B3-11A-21D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22aff19c-f5e8-4648-b758-b92784cd8cdf	3b8bec14-e3b8-4447-a11a-96144843d4c1	g.chr1:156849931_156849936delCCAGCT	ENST00000524377.1	+	16	2228_2233	c.2187_2192delCCAGCT	c.(2185-2193)taccagctc>tac	p.QL730del	NTRK1_ENST00000368196.3_In_Frame_Del_p.QL724del|NTRK1_ENST00000531606.1_3'UTR|NTRK1_ENST00000358660.3_In_Frame_Del_p.QL727del|NTRK1_ENST00000392302.2_In_Frame_Del_p.QL694del	NM_002529.3	NP_002520.2	P04629	NTRK1_HUMAN	neurotrophic tyrosine kinase, receptor, type 1	730	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of adenylate cyclase activity (GO:0007190)|activation of MAPKK activity (GO:0000186)|activation of phospholipase C activity (GO:0007202)|aging (GO:0007568)|axon guidance (GO:0007411)|axonogenesis involved in innervation (GO:0060385)|B cell differentiation (GO:0030183)|cellular response to nerve growth factor stimulus (GO:1990090)|cellular response to nicotine (GO:0071316)|circadian rhythm (GO:0007623)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|developmental programmed cell death (GO:0010623)|learning or memory (GO:0007611)|mechanoreceptor differentiation (GO:0042490)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|olfactory nerve development (GO:0021553)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of angiogenesis (GO:0045766)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron projection development (GO:0010976)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of programmed cell death (GO:0043068)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Ras protein signal transduction (GO:0046579)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|Ras protein signal transduction (GO:0007265)|response to activity (GO:0014823)|response to axon injury (GO:0048678)|response to drug (GO:0042493)|response to electrical stimulus (GO:0051602)|response to ethanol (GO:0045471)|response to hydrostatic pressure (GO:0051599)|response to nutrient levels (GO:0031667)|response to radiation (GO:0009314)|Sertoli cell development (GO:0060009)|small GTPase mediated signal transduction (GO:0007264)|sympathetic nervous system development (GO:0048485)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	axon (GO:0030424)|cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|early endosome (GO:0005769)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|nerve growth factor binding (GO:0048406)|nerve growth factor receptor activity (GO:0010465)|neurotrophin binding (GO:0043121)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(35)|ovary(8)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	74	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)				Amitriptyline(DB00321)|Imatinib(DB00619)|Regorafenib(DB08896)	AGCCCTGGTACCAGCTCTCCAACACG	0.621			T	"TPM3, TPR, TFG"	papillary thyroid					TSP Lung(10;0.080)																												ENST00000368196.3				Dom	yes		1	1q21-q22	4914	T	"neurotrophic tyrosine kinase, receptor, type 1"			E	"TPM3, TPR, TFG"		papillary thyroid		0				breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(35)|ovary(8)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	74						c.(2167-2175)tac>ta		neurotrophic tyrosine kinase, receptor, type 1	Imatinib(DB00619)																																			SO:0001651	inframe_deletion	4914				activation of adenylate cyclase activity|activation of MAPKK activity|activation of phospholipase C activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development|phosphatidylinositol-mediated signaling|Ras protein signal transduction	endosome|integral to plasma membrane	ATP binding|neurotrophin receptor activity|transmembrane receptor protein serine/threonine kinase activity|transmembrane receptor protein tyrosine kinase activity	g.chr1:156849931_156849936delCCAGCT	Y09028	CCDS1161.1, CCDS30890.1, CCDS30891.1	1q21-q22	2014-09-17			ENSG00000198400	ENSG00000198400	2.7.10.1	"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	8031	protein-coding gene	gene with protein product	"high affinity nerve growth factor receptor"	191315				2869410	Standard	NM_001007792		Approved	TRK, TRKA, MTC	uc001fqh.1	P04629	OTTHUMG00000041304	ENST00000524377.1:c.2187_2192delCCAGCT	1.37:g.156849931_156849936delCCAGCT	ENSP00000431418:p.Gln730_Leu731del	TSP Lung(10;0.080)				NTRK1_ENST00000392302.2_In_Frame_Del_p.YQL693del|NTRK1_ENST00000531606.1_3'UTR|NTRK1_ENST00000358660.3_In_Frame_Del_p.YQL726del|NTRK1_ENST00000524377.1_In_Frame_Del_p.YQL729del	p.YQL723del	NM_001012331.1	NP_001012331.1	P04629	NTRK1_HUMAN			15	2289_2294	+	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)		729			Protein kinase.		B2R6T5|B7ZM34|P08119|Q15655|Q15656|Q5D056|Q5VZS2|Q7Z5C3|Q9UIU7	In_Frame_Del	DEL	ENST00000524377.1	37	c.2169_2174delCCAGCT	CCDS1161.1																																																																																				0.621	NTRK1-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000392279.1	NM_002529		14	82						14	82	---	---	---	---	-	156849936	CCAGCT	-	156849931	7	5	330	1	0	1	0	1	0	0	0	0	10706	518	18	0	2379	0	NTRK1	1	156849931	In_Frame_Del	DEL	CCAGCT	TCGA-KK-A7B3-01A-11D-A33T-08		156849931	92400690	1	16798											
KIAA1614	57710	broad.mit.edu	37	chr1	180904874	180904874	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtgccctgcggaggtggactCtgccctggacagcacagaca	8	6	14	13	1	1	1	0	0	1	1	1	4	1	4	2	4	4	1	2	4	0	0			TCGA-KK-A7B3-01A-11D-A33T-08	TCGA-KK-A7B3-11A-21D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22aff19c-f5e8-4648-b758-b92784cd8cdf	3b8bec14-e3b8-4447-a11a-96144843d4c1	g.chr1:180904874C>G	ENST00000367588.4	+	5	1884	c.1829C>G	c.(1828-1830)tCt>tGt	p.S610C	KIAA1614_ENST00000367587.1_Missense_Mutation_p.S231C	NM_020950.1	NP_066001.1	Q5VZ46	K1614_HUMAN	KIAA1614	610										NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	33						GAGGTGGACTCTGCCCTGGAC	0.652																																						ENST00000367588.4																			0				NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	33						c.(1828-1830)tCt>tGt		KIAA1614							27	32	30					1																	180904874		2176	4262	6438	SO:0001583	missense	57710							g.chr1:180904874C>G	AB046834	CCDS41442.1	1q25.3	2008-02-05			ENSG00000135835	ENSG00000135835			29327	protein-coding gene	gene with protein product							Standard	NM_020950		Approved		uc001gok.2	Q5VZ46	OTTHUMG00000035183	ENST00000367588.4:c.1829C>G	1.37:g.180904874C>G	ENSP00000356560:p.Ser610Cys					KIAA1614_ENST00000367587.1_Missense_Mutation_p.S231C	p.S610C	NM_020950.1	NP_066001.1	Q5VZ46	K1614_HUMAN			5	1884	+			610					Q5VZ45|Q9HCF8	Missense_Mutation	SNP	ENST00000367588.4	37	c.1829C>G	CCDS41442.1	.	.	.	.	.	.	.	.	.	.	c	15.06	2.720021	0.48728	.	.	ENSG00000135835	ENST00000367588;ENST00000367587	T;T	0.53857	1.11;0.6	4.96	4.96	0.65561	.	0.351261	0.28125	N	0.016513	T	0.68513	0.3009	L	0.61218	1.895	0.31697	N	0.6411020000000001	D	0.89917	1.0	D	0.66351	0.943	T	0.74881	-0.3513	9	0.62326	D	0.03	-3.0454	15.9644	0.79956	0.0:1.0:0.0:0.0	.	610	Q5VZ46	K1614_HUMAN	C	610;231	ENSP00000356560:S610C;ENSP00000356559:S231C	ENSP00000356559:S231C	S	+	2	0	KIAA1614	179171497	0.980000	0.34600	0.352000	0.25734	0.007000	0.05969	2.549000	0.45803	2.281000	0.76405	0.556000	0.70494	TCT		0.652	KIAA1614-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000085151.1	XM_046531		11	21	0	0	0	1	0	11	21					G	180904874	C	G	180904874	3	3	330	1	0	0	0	0	1	0	0	0	8248	913	32	5	1847	5	KIAA1614	1	180904874	Missense_Mutation	SNP	C	TCGA-KK-A7B3-01A-11D-A33T-08	24054943	180904874	68345747	2	16799											
KIAA1614	57710	broad.mit.edu	37	chr1	180905490	180905490	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	acccctcccccttcgaggaaAaccacctcgccagtgtctca	9	7	6	19	2	1	0	1	0	1	0	5	2	2	1	7	1	1	0	7	1	2	1			TCGA-KK-A7B3-01A-11D-A33T-08	TCGA-KK-A7B3-11A-21D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22aff19c-f5e8-4648-b758-b92784cd8cdf	3b8bec14-e3b8-4447-a11a-96144843d4c1	g.chr1:180905490A>C	ENST00000367588.4	+	5	2500	c.2445A>C	c.(2443-2445)aaA>aaC	p.K815N	KIAA1614_ENST00000367587.1_Missense_Mutation_p.K436N	NM_020950.1	NP_066001.1	Q5VZ46	K1614_HUMAN	KIAA1614	815										NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	33						CTTCGAGGAAAACCACCTCGC	0.617																																						ENST00000367588.4																			0				NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	33						c.(2443-2445)aaA>aaC		KIAA1614							47	51	50					1																	180905490		1965	4147	6112	SO:0001583	missense	57710							g.chr1:180905490A>C	AB046834	CCDS41442.1	1q25.3	2008-02-05			ENSG00000135835	ENSG00000135835			29327	protein-coding gene	gene with protein product							Standard	NM_020950		Approved		uc001gok.2	Q5VZ46	OTTHUMG00000035183	ENST00000367588.4:c.2445A>C	1.37:g.180905490A>C	ENSP00000356560:p.Lys815Asn					KIAA1614_ENST00000367587.1_Missense_Mutation_p.K436N	p.K815N	NM_020950.1	NP_066001.1	Q5VZ46	K1614_HUMAN			5	2500	+			815					Q5VZ45|Q9HCF8	Missense_Mutation	SNP	ENST00000367588.4	37	c.2445A>C	CCDS41442.1	.	.	.	.	.	.	.	.	.	.	A	14.03	2.412304	0.42817	.	.	ENSG00000135835	ENST00000367588;ENST00000367587	T;T	0.61392	0.11;0.11	4.51	2.18	0.27775	.	0.319435	0.28533	N	0.015007	T	0.57829	0.2080	L	0.34521	1.04	0.31782	N	0.6307309999999999	D	0.61697	0.99	P	0.59487	0.858	T	0.65487	-0.6156	9	0.52906	T	0.07	-4.205	9.0759	0.36522	0.8288:0.0:0.1712:0.0	.	815	Q5VZ46	K1614_HUMAN	N	815;436	ENSP00000356560:K815N;ENSP00000356559:K436N	ENSP00000356559:K436N	K	+	3	2	KIAA1614	179172113	0.000000	0.05858	0.020000	0.16555	0.003000	0.03518	0.128000	0.15810	0.129000	0.18514	-1.447000	0.01057	AAA		0.617	KIAA1614-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000085151.1	XM_046531		14	28	0	0	0	1	0	14	28					C	180905490	A	C	180905490	3	2	330	1	0	0	0	0	1	0	0	0	8248	11	1	5	2463	5	KIAA1614	1	180905490	Missense_Mutation	SNP	A	TCGA-KK-A7B3-01A-11D-A33T-08	616	180905490	68345131	3	16800											
HMCN1	83872	broad.mit.edu	37	chr1	185962357	185962357	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caatgaagatcactgaaaccCgcacttcagatagtgggatg	14	8	10	9	1	2	4	2	2	0	2	2	5	2	5	1	1	1	1	1	1	4	2			TCGA-KK-A7B3-01A-11D-A33T-08	TCGA-KK-A7B3-11A-21D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22aff19c-f5e8-4648-b758-b92784cd8cdf	3b8bec14-e3b8-4447-a11a-96144843d4c1	g.chr1:185962357C>T	ENST00000271588.4	+	23	3650	c.3421C>T	c.(3421-3423)Cgc>Tgc	p.R1141C	HMCN1_ENST00000367492.2_Missense_Mutation_p.R1141C|HMCN1_ENST00000485744.1_3'UTR	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	1141	Ig-like C2-type 8.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)	p.R1141S(1)		NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						CACTGAAACCCGCACTTCAGA	0.398																																						ENST00000271588.4																			1	Substitution - Missense(1)	p.R1141S(1)	lung(1)	NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						c.(3421-3423)Cgc>Tgc		hemicentin 1							139	134	136					1																	185962357		2203	4300	6503	SO:0001583	missense	83872				response to stimulus|visual perception	basement membrane	calcium ion binding	g.chr1:185962357C>T	AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"Fibulins", "Immunoglobulin superfamily / I-set domain containing"	19194	protein-coding gene	gene with protein product	"fibulin 6"	608548	"age-related macular degeneration 1 (senile macular degeneration)"	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.3421C>T	1.37:g.185962357C>T	ENSP00000271588:p.Arg1141Cys					HMCN1_ENST00000485744.1_3'UTR|HMCN1_ENST00000367492.2_Missense_Mutation_p.R1141C	p.R1141C	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN			23	3650	+			1141			Ig-like C2-type 8.		A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Missense_Mutation	SNP	ENST00000271588.4	37	c.3421C>T	CCDS30956.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.357552	0.82243	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	T;T	0.68025	-0.3;-0.3	6.07	6.07	0.98685	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.099080	0.64402	D	0.000003	T	0.77942	0.4206	L	0.52011	1.625	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.87578	0.969;0.998	T	0.77814	-0.2448	10	0.62326	D	0.03	.	15.3849	0.74691	0.1393:0.8607:0.0:0.0	.	525;1141	Q96RW7-3;Q96RW7	.;HMCN1_HUMAN	C	1141	ENSP00000271588:R1141C;ENSP00000356462:R1141C	ENSP00000271588:R1141C	R	+	1	0	HMCN1	184228980	0.998000	0.40836	0.961000	0.40146	0.943000	0.58893	3.261000	0.51530	2.885000	0.99019	0.655000	0.94253	CGC		0.398	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935		34	50	0	0	0	1	0	34	50					T	185962357	C	T	185962357	3	4	330	1	0	0	0	0	1	0	0	0	7220	652	23	2	3511	2	HMCN1	1	185962357	Missense_Mutation	SNP	C	TCGA-KK-A7B3-01A-11D-A33T-08	5056867	185962357	63288264	4	16801											
TP53BP2	7159	broad.mit.edu	37	chr1	223980187	223980187	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acacagcattgtgaagagccGtgatgccttcatcattgggg	10	10	12	9	1	2	3	2	2	0	1	2	3	2	3	2	2	3	1	2	2	1	3			TCGA-KK-A7B3-01A-11D-A33T-08	TCGA-KK-A7B3-11A-21D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22aff19c-f5e8-4648-b758-b92784cd8cdf	3b8bec14-e3b8-4447-a11a-96144843d4c1	g.chr1:223980187G>A	ENST00000343537.7	-	15	3191	c.2900C>T	c.(2899-2901)aCg>aTg	p.T967M	TP53BP2_ENST00000498843.1_5'UTR|TP53BP2_ENST00000391879.2_Missense_Mutation_p.T200M|TP53BP2_ENST00000391878.2_Missense_Mutation_p.T838M	NM_001031685.2	NP_001026855.2	Q13625	ASPP2_HUMAN	tumor protein p53 binding protein 2	961	Mediates interaction with APC2.				cell cycle (GO:0007049)|central nervous system development (GO:0007417)|embryo development ending in birth or egg hatching (GO:0009792)|heart development (GO:0007507)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|negative regulation of cell cycle (GO:0045786)|positive regulation of signal transduction (GO:0009967)|response to ionizing radiation (GO:0010212)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	identical protein binding (GO:0042802)|NF-kappaB binding (GO:0051059)|SH3/SH2 adaptor activity (GO:0005070)			NS(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(2)	29				GBM - Glioblastoma multiforme(131;0.0958)		GTGAAGAGCCGTGATGCCTTC	0.448																																						ENST00000391878.2																			0				NS(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(2)	29						c.(2512-2514)aCg>aTg		tumor protein p53 binding protein, 2							94	83	87					1																	223980187		2203	4300	6503	SO:0001583	missense	7159				apoptosis|cell cycle|induction of apoptosis|negative regulation of cell cycle|signal transduction	nucleus|perinuclear region of cytoplasm	NF-kappaB binding|protein binding|SH3 domain binding|SH3/SH2 adaptor activity	g.chr1:223980187G>A	U09582	CCDS1538.1, CCDS44319.1	1q41	2014-06-24	2014-06-24		ENSG00000143514	ENSG00000143514		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "Ankyrin repeat domain containing"	12000	protein-coding gene	gene with protein product		602143	"tumor protein p53-binding protein, 2"			8668206, 8016121	Standard	NM_005426		Approved	PPP1R13A, ASPP2, 53BP2	uc010pvb.2	Q13625	OTTHUMG00000037379	ENST00000343537.7:c.2900C>T	1.37:g.223980187G>A	ENSP00000341957:p.Thr967Met					TP53BP2_ENST00000391879.2_Missense_Mutation_p.T200M|TP53BP2_ENST00000498843.1_5'UTR|TP53BP2_ENST00000343537.7_Missense_Mutation_p.T967M	p.T838M	NM_005426.2	NP_005417.1	Q13625	ASPP2_HUMAN		GBM - Glioblastoma multiforme(131;0.0958)	16	3281	-			961			Pro-rich.		B4DG66|Q12892|Q86X75|Q96KQ3	Missense_Mutation	SNP	ENST00000343537.7	37	c.2513C>T	CCDS44319.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.392048	0.83011	.	.	ENSG00000143514	ENST00000391878;ENST00000343537;ENST00000391879	T;T;T	0.71222	-0.55;-0.55;-0.55	5.31	4.4	0.53042	Src homology-3 domain (1);Ankyrin repeat-containing domain (3);	0.146434	0.64402	D	0.000009	D	0.86293	0.5898	M	0.90705	3.14	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.89226	0.3574	10	0.87932	D	0	.	14.2188	0.65812	0.0722:0.0:0.9278:0.0	.	967;961	B4DG66;Q13625	.;ASPP2_HUMAN	M	838;967;200	ENSP00000375750:T838M;ENSP00000341957:T967M;ENSP00000375751:T200M	ENSP00000341957:T967M	T	-	2	0	TP53BP2	222046810	1.000000	0.71417	0.939000	0.37840	0.964000	0.63967	9.779000	0.99018	1.382000	0.46385	0.467000	0.42956	ACG		0.448	TP53BP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090985.3	NM_001031685, NM_005426		9	22	0	0	0	1	0	9	22					A	223980187	G	A	223980187	3	1	330	1	0	0	0	0	1	0	0	0	16381	1145	40	1	520	1	TP53BP2	1	223980187	Missense_Mutation	SNP	G	TCGA-KK-A7B3-01A-11D-A33T-08	38017830	223980187	25270434	5	16802											
GALNT14	79623	broad.mit.edu	37	chr2	31215825	31215825	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttttggcattcagataccGccgctcatcaaactggtccc	8	12	7	14	2	3	1	3	0	0	1	4	1	4	1	3	2	2	2	3	2	2	4	rs148056182		TCGA-KK-A7B3-01A-11D-A33T-08	TCGA-KK-A7B3-11A-21D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22aff19c-f5e8-4648-b758-b92784cd8cdf	3b8bec14-e3b8-4447-a11a-96144843d4c1	g.chr2:31215825G>A	ENST00000349752.5	-	2	817	c.178C>T	c.(178-180)Cgg>Tgg	p.R60W	GALNT14_ENST00000420311.2_Missense_Mutation_p.R25W|GALNT14_ENST00000406653.1_Missense_Mutation_p.R40W|GALNT14_ENST00000324589.5_Intron|AC009305.1_ENST00000449780.1_RNA|GALNT14_ENST00000356174.3_Missense_Mutation_p.R60W	NM_024572.3	NP_078848.2	Q96FL9	GLT14_HUMAN	polypeptide N-acetylgalactosaminyltransferase 14	60					cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			cervix(1)|endometrium(3)|large_intestine(10)|liver(1)|lung(21)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)	43	Acute lymphoblastic leukemia(172;0.155)					TTCAGATACCGCCGCTCATCA	0.572																																						ENST00000349752.5																			0				cervix(1)|endometrium(3)|large_intestine(10)|liver(1)|lung(21)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)	43						c.(178-180)Cgg>Tgg		UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 14 (GalNAc-T14)		G	TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	92	79	84		178	1.8	1	2	dbSNP_134	84	0,8600		0,0,4300	no	missense	GALNT14	NM_024572.2	101	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	possibly-damaging	60/553	31215825	1,13005	2203	4300	6503	SO:0001583	missense	79623					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr2:31215825G>A	AB078144	CCDS1773.2, CCDS58705.1, CCDS58706.1	2p23.2	2014-03-13	2014-03-13		ENSG00000158089	ENSG00000158089	2.4.1.41	"Glycosyltransferase family 2 domain containing"	22946	protein-coding gene	gene with protein product	"polypeptide GalNAc transferase 14"	608225	"UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 14 (GalNAc-T14)"			12507512	Standard	NM_024572		Approved	GalNac-T10, FLJ12691, GalNac-T14	uc002rns.3	Q96FL9	OTTHUMG00000074077	ENST00000349752.5:c.178C>T	2.37:g.31215825G>A	ENSP00000288988:p.Arg60Trp					GALNT14_ENST00000420311.2_Missense_Mutation_p.R25W|GALNT14_ENST00000324589.5_Intron|GALNT14_ENST00000406653.1_Missense_Mutation_p.R40W|GALNT14_ENST00000356174.3_Missense_Mutation_p.R60W	p.R60W	NM_024572.3	NP_078848.2	Q96FL9	GLT14_HUMAN			2	817	-	Acute lymphoblastic leukemia(172;0.155)		60					B3KV89|Q4ZG75|Q53SU1|Q53TJ0|Q8IVI4|Q9BRH1|Q9H827|Q9H9J8	Missense_Mutation	SNP	ENST00000349752.5	37	c.178C>T	CCDS1773.2	.	.	.	.	.	.	.	.	.	.	G	19.50	3.840133	0.71488	2.27E-4	0.0	ENSG00000158089	ENST00000349752;ENST00000406653;ENST00000356174;ENST00000420311;ENST00000430167	T;T;T;T;T	0.63580	0.42;0.42;0.2;0.43;-0.05	4.8	1.79	0.24919	.	.	.	.	.	T	0.58032	0.2094	L	0.38175	1.15	0.35848	D	0.826562	D;D;D;D;D	0.64830	0.994;0.99;0.987;0.958;0.978	P;P;P;B;B	0.51229	0.663;0.462;0.528;0.339;0.328	T	0.64330	-0.6433	9	0.72032	D	0.01	.	9.4013	0.38435	0.0:0.1139:0.2722:0.6139	.	25;25;60;60;40	F5H263;B7Z5C5;Q96FL9-2;Q96FL9;B3KV89	.;.;.;GLT14_HUMAN;.	W	60;40;60;25;60	ENSP00000288988:R60W;ENSP00000385435:R40W;ENSP00000348497:R60W;ENSP00000415514:R25W;ENSP00000406399:R60W	ENSP00000288988:R60W	R	-	1	2	GALNT14	31069329	0.931000	0.31567	0.965000	0.40720	0.988000	0.76386	0.990000	0.29642	0.161000	0.19458	0.555000	0.69702	CGG		0.572	GALNT14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157264.1	NM_024572		14	21	0	0	0	1	0	14	21					A	31215825	G	A	31215825	3	1	330	1	0	0	0	0	1	0	0	0	6212	1086	38	1	1536	1	GALNT14	2	31215825	Missense_Mutation	SNP	G	TCGA-KK-A7B3-01A-11D-A33T-08		31215825	211983548	6	16803											
SULT1C3	442038	broad.mit.edu	37	chr2	108869816	108869816	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gctagatttggagttcgttcTtgaaatgtcctcaccacaac	10	13	8	10	1	2	2	1	1	1	1	4	3	3	3	2	1	1	3	2	1	3	5			TCGA-KK-A7B3-01A-11D-A33T-08	TCGA-KK-A7B3-11A-21D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22aff19c-f5e8-4648-b758-b92784cd8cdf	3b8bec14-e3b8-4447-a11a-96144843d4c1	g.chr2:108869816T>C	ENST00000329106.2	+	3	317	c.317T>C	c.(316-318)cTt>cCt	p.L106P	SULT1C3_ENST00000376700.1_Missense_Mutation_p.L106P	NM_001008743.1	NP_001008743.1	Q6IMI6	ST1C3_HUMAN	sulfotransferase family, cytosolic, 1C, member 3	106					sulfur compound metabolic process (GO:0006790)	cytoplasm (GO:0005737)	alcohol sulfotransferase activity (GO:0004027)|aryl sulfotransferase activity (GO:0004062)			breast(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(4)	16						GAGTTCGTTCTTGAAATGTCC	0.363																																						ENST00000329106.2																			0				breast(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(4)	16						c.(316-318)cTt>cCt		sulfotransferase family, cytosolic, 1C, member 3							107	101	103					2																	108869816		2203	4300	6503	SO:0001583	missense	442038					cytoplasm	alcohol sulfotransferase activity	g.chr2:108869816T>C	BC146362	CCDS33267.1	2q12.3	2007-07-26			ENSG00000196228	ENSG00000196228		"Sulfotransferases, cytosolic"	33543	protein-coding gene	gene with protein product						14676822, 17425406	Standard	NM_001008743		Approved		uc010ywo.2	Q6IMI6	OTTHUMG00000153227	ENST00000329106.2:c.317T>C	2.37:g.108869816T>C	ENSP00000333310:p.Leu106Pro					SULT1C3_ENST00000376700.1_Missense_Mutation_p.L106P	p.L106P	NM_001008743.1	NP_001008743.1	Q6IMI6	ST1C3_HUMAN			3	317	+			106					Q6IMI5	Missense_Mutation	SNP	ENST00000329106.2	37	c.317T>C	CCDS33267.1	.	.	.	.	.	.	.	.	.	.	T	10.03	1.240148	0.22711	.	.	ENSG00000196228	ENST00000329106;ENST00000376700	D;D	0.81996	-1.56;-1.56	2.8	-5.11	0.02901	Sulfotransferase domain (1);	2.000900	0.03178	N	0.171731	T	0.75852	0.3906	N	0.12637	0.245	0.09310	N	1	B	0.33073	0.396	B	0.43623	0.425	T	0.68891	-0.5289	10	0.54805	T	0.06	.	11.6966	0.51546	0.8088:0.0:0.0:0.1912	.	106	Q6IMI6	ST1C3_HUMAN	P	106	ENSP00000333310:L106P;ENSP00000365890:L106P	ENSP00000333310:L106P	L	+	2	0	SULT1C3	108236248	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-3.358000	0.00499	-1.209000	0.02631	0.383000	0.25322	CTT		0.363	SULT1C3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000330255.1	NM_001008743		12	45	0	0	0	1	0	12	45					C	108869816	T	C	108869816	3	2	330	1	0	0	0	0	1	0	0	0	15375	1609	56	4	327	4	SULT1C3	2	108869816	Missense_Mutation	SNP	T	TCGA-KK-A7B3-01A-11D-A33T-08	77653991	108869816	134329557	7	16804											
HS6ST1	9394	broad.mit.edu	37	chr2	129075918	129075918	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcgcagcgagcgctccagctCgcggaccgggaagtagtact	8	5	15	13	6	0	0	0	0	0	0	2	3	1	2	2	2	4	5	2	2	3	2			TCGA-KK-A7B3-01A-11D-A33T-08	TCGA-KK-A7B3-11A-21D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22aff19c-f5e8-4648-b758-b92784cd8cdf	3b8bec14-e3b8-4447-a11a-96144843d4c1	g.chr2:129075918C>T	ENST00000259241.6	-	1	233	c.220G>A	c.(220-222)Gag>Aag	p.E74K	HS6ST1_ENST00000494089.1_5'UTR	NM_004807.2	NP_004798.3	O60243	H6ST1_HUMAN	heparan sulfate 6-O-sulfotransferase 1	74					angiogenesis (GO:0001525)|carbohydrate metabolic process (GO:0005975)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process, enzymatic modification (GO:0015015)|labyrinthine layer blood vessel development (GO:0060716)|lung alveolus development (GO:0048286)|neuron development (GO:0048666)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)	heparan sulfate 6-O-sulfotransferase activity (GO:0017095)|sulfotransferase activity (GO:0008146)			endometrium(3)|liver(1)|lung(7)|pancreas(1)|prostate(2)|skin(1)	15	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.117)		CGCTCCAGCTCGCGGACCGGG	0.692																																						ENST00000259241.6																			0				endometrium(3)|liver(1)|lung(7)|pancreas(1)|prostate(2)|skin(1)	15						c.(220-222)Gag>Aag		heparan sulfate 6-O-sulfotransferase 1							19	28	25					2																	129075918		1953	4157	6110	SO:0001583	missense	9394				heparan sulfate proteoglycan biosynthetic process, enzymatic modification	integral to plasma membrane	sulfotransferase activity	g.chr2:129075918C>T	AB006179	CCDS42748.1	2q21	2010-03-19		2002-08-23	ENSG00000136720	ENSG00000136720		"Sulfotransferases, membrane-bound"	5201	protein-coding gene	gene with protein product		604846		HS6ST		9535912	Standard	NM_004807		Approved		uc002tpt.4	O60243	OTTHUMG00000153542	ENST00000259241.6:c.220G>A	2.37:g.129075918C>T	ENSP00000259241:p.Glu74Lys					HS6ST1_ENST00000494089.1_5'UTR	p.E74K	NM_004807.2	NP_004798.3	O60243	H6ST1_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.117)	1	233	-	Colorectal(110;0.1)		74					B4DEP2|B4DJ29|Q53SL2|Q9BVI1	Missense_Mutation	SNP	ENST00000259241.6	37	c.220G>A	CCDS42748.1	.	.	.	.	.	.	.	.	.	.	c	20.5	3.997775	0.74818	.	.	ENSG00000136720	ENST00000259241	T	0.41065	1.01	3.16	3.16	0.36331	.	0.061140	0.64402	U	0.000004	T	0.20210	0.0486	N	0.14661	0.345	0.52501	D	0.999954	P	0.34934	0.476	B	0.19946	0.027	T	0.07966	-1.0745	9	.	.	.	.	11.7632	0.51916	0.0:1.0:0.0:0.0	.	74	O60243	H6ST1_HUMAN	K	74	ENSP00000259241:E74K	.	E	-	1	0	HS6ST1	128792388	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	4.901000	0.63259	1.600000	0.50102	0.313000	0.20887	GAG		0.692	HS6ST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331572.1	NM_004807		5	22	0	0	0	1	0	5	22					T	129075918	C	T	129075918	3	4	330	1	0	0	0	0	1	0	0	0	7370	893	31	2	1023	2	HS6ST1	2	129075918	Missense_Mutation	SNP	C	TCGA-KK-A7B3-01A-11D-A33T-08	20206102	129075918	114123455	8	16805											
PIKFYVE	200576	broad.mit.edu	37	chr2	209190015	209190015	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acaaaccaagacactgatgtTttttgaaggttgtccacagc	13	11	8	9	0	0	3	0	2	0	1	1	3	1	3	2	1	2	2	2	1	3	4			TCGA-KK-A7B3-01A-11D-A33T-08	TCGA-KK-A7B3-11A-21D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22aff19c-f5e8-4648-b758-b92784cd8cdf	3b8bec14-e3b8-4447-a11a-96144843d4c1	g.chr2:209190015T>G	ENST00000264380.4	+	20	2638	c.2480T>G	c.(2479-2481)tTt>tGt	p.F827C		NM_015040.3	NP_055855.2	Q9Y2I7	FYV1_HUMAN	phosphoinositide kinase, FYVE finger containing	827					cellular protein metabolic process (GO:0044267)|intracellular signal transduction (GO:0035556)|myelin assembly (GO:0032288)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phospholipid metabolic process (GO:0006644)|protein localization to nucleus (GO:0034504)|retrograde transport, endosome to Golgi (GO:0042147)|small molecule metabolic process (GO:0044281)	cell-cell junction (GO:0005911)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|early endosome membrane (GO:0031901)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|late endosome membrane (GO:0031902)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|vesicle membrane (GO:0012506)	1-phosphatidylinositol-3-phosphate 5-kinase activity (GO:0000285)|1-phosphatidylinositol-4-phosphate 5-kinase activity (GO:0016308)|ATP binding (GO:0005524)|phosphatidylinositol-3,5-bisphosphate 5-phosphatase activity (GO:0043813)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(14)|kidney(6)|large_intestine(25)|lung(40)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	107						ACACTGATGTTTTTTGAAGGT	0.388																																						ENST00000264380.4																			0				NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(14)|kidney(6)|large_intestine(25)|lung(40)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	107						c.(2479-2481)tTt>tGt		phosphoinositide kinase, FYVE finger containing							52	48	50					2																	209190015		2203	4300	6503	SO:0001583	missense	200576				cellular protein metabolic process|intracellular signal transduction|protein localization to nucleus|retrograde transport, endosome to Golgi	early endosome membrane|membrane raft	1-phosphatidylinositol-3-phosphate 5-kinase activity|1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|metal ion binding|protein binding	g.chr2:209190015T>G	AB023198	CCDS2382.1, CCDS33368.1, CCDS54431.1	2q34	2014-01-15	2009-04-17	2009-04-17	ENSG00000115020	ENSG00000115020		"Zinc fingers, FYVE domain containing"	23785	protein-coding gene	gene with protein product	"zinc finger, FYVE domain containing 29"	609414	"phosphatidylinositol-3-phosphate/phosphatidylinositol 5-kinase, type III"	PIP5K3		9858586, 12270933	Standard	NM_015040		Approved	MGC40423, KIAA0981, PIKfyve, PIP5K, p235, ZFYVE29, FAB1	uc002vcz.3	Q9Y2I7	OTTHUMG00000132945	ENST00000264380.4:c.2480T>G	2.37:g.209190015T>G	ENSP00000264380:p.Phe827Cys						p.F827C	NM_015040.3	NP_055855.2	Q9Y2I7	FYV1_HUMAN			20	2638	+			827					Q08AR7|Q08AR8|Q53ST3|Q53T36|Q8N5H0|Q8NB67	Missense_Mutation	SNP	ENST00000264380.4	37	c.2480T>G	CCDS2382.1	.	.	.	.	.	.	.	.	.	.	T	19.08	3.758239	0.69763	.	.	ENSG00000115020	ENST00000264380;ENST00000392200;ENST00000452564	T;T	0.80738	-1.41;-1.41	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	D	0.89466	0.6723	M	0.74647	2.275	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.997	D	0.90550	0.4508	10	0.87932	D	0	-19.809	16.3818	0.83467	0.0:0.0:0.0:1.0	.	827;771	Q9Y2I7;E9PDH4	FYV1_HUMAN;.	C	827;403;771	ENSP00000264380:F827C;ENSP00000405736:F771C	ENSP00000264380:F827C	F	+	2	0	PIKFYVE	208898260	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.997000	0.88414	2.330000	0.79161	0.528000	0.53228	TTT		0.388	PIKFYVE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256477.2	NM_015040		12	27	0	0	0	1	0	12	27					G	209190015	T	G	209190015	3	3	330	1	0	0	0	0	1	0	0	0	11924	1841	64	5	2565	5	PIKFYVE	2	209190015	Missense_Mutation	SNP	T	TCGA-KK-A7B3-01A-11D-A33T-08	80114097	209190015	34009358	9	16806											
AGFG1	3267	broad.mit.edu	37	chr2	228388506	228388506	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccgccagaacaagccaaagtCgtggcatcagttcatgcatc	12	7	9	13	2	2	1	2	0	0	1	4	1	2	1	3	1	3	3	3	1	3	1			TCGA-KK-A7B3-01A-11D-A33T-08	TCGA-KK-A7B3-11A-21D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22aff19c-f5e8-4648-b758-b92784cd8cdf	3b8bec14-e3b8-4447-a11a-96144843d4c1	g.chr2:228388506C>T	ENST00000310078.8	+	4	665	c.405C>T	c.(403-405)gtC>gtT	p.V135V	AGFG1_ENST00000486932.1_3'UTR|AGFG1_ENST00000373671.3_Silent_p.V135V|AGFG1_ENST00000409171.1_Silent_p.V135V|AGFG1_ENST00000409315.1_Silent_p.V135V|AGFG1_ENST00000409979.2_Silent_p.V135V	NM_001135188.1|NM_001135189.1|NM_004504.4	NP_001128660.1|NP_001128661.1|NP_004495.2	P52594	AGFG1_HUMAN	ArfGAP with FG repeats 1	135	Arf-GAP. {ECO:0000255|PROSITE- ProRule:PRU00288}.				cell differentiation (GO:0030154)|mRNA export from nucleus (GO:0006406)|multicellular organismal development (GO:0007275)|regulation of ARF GTPase activity (GO:0032312)|spermatogenesis (GO:0007283)	cytoplasmic vesicle (GO:0031410)|intracellular membrane-bounded organelle (GO:0043231)|nuclear pore (GO:0005643)	ARF GTPase activator activity (GO:0008060)|DNA binding (GO:0003677)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|large_intestine(5)|liver(2)|lung(2)|ovary(1)|prostate(1)|skin(4)|stomach(1)	18						AAGCCAAAGTCGTGGCATCAG	0.388																																						ENST00000310078.7																			0				central_nervous_system(1)|endometrium(1)|large_intestine(5)|liver(2)|lung(2)|ovary(1)|prostate(1)|skin(4)|stomach(1)	18						c.(403-405)gtC>gtT		ArfGAP with FG repeats 1							108	101	103					2																	228388506		2203	4300	6503	SO:0001819	synonymous_variant	3267				cell differentiation|mRNA export from nucleus|multicellular organismal development|regulation of ARF GTPase activity|spermatogenesis	cytoplasmic membrane-bounded vesicle|Golgi apparatus|nuclear pore	ARF GTPase activator activity|DNA binding|protein binding|RNA binding|zinc ion binding	g.chr2:228388506C>T		CCDS2467.1, CCDS46533.1, CCDS46534.1, CCDS46535.1	2q36	2009-11-30	2008-09-22	2008-09-22	ENSG00000173744	ENSG00000173744		"ADP-ribosylation factor GTPase activating proteins"	5175	protein-coding gene	gene with protein product		600862	"HIV-1 Rev binding protein"	HRB		7637788	Standard	NM_004504		Approved	RIP, RAB	uc002vpd.2	P52594	OTTHUMG00000133186	ENST00000310078.8:c.405C>T	2.37:g.228388506C>T						AGFG1_ENST00000486932.1_3'UTR|AGFG1_ENST00000409979.2_Silent_p.V135V|AGFG1_ENST00000409171.1_Silent_p.V135V|AGFG1_ENST00000409315.1_Silent_p.V135V|AGFG1_ENST00000373671.3_Silent_p.V135V	p.V135V	NM_001135188.1|NM_004504.4	NP_001128660.1|NP_004495.2	P52594	AGFG1_HUMAN			4	665	+			135			Arf-GAP.		B3KUL1|E9PHX7|Q15277|Q4VAS0|Q4VAS1|Q4VAS3|Q53QT8|Q53R11	Silent	SNP	ENST00000310078.8	37	c.405C>T	CCDS2467.1																																																																																				0.388	AGFG1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256895.2	NM_004504		6	79	0	0	0	1	0	6	79					T	228388506	C	T	228388506	2	4	330	1	0	0	0	0	0	0	0	1	380	871	31	2		2	AGFG1	2	228388506	Silent	SNP	C	TCGA-KK-A7B3-01A-11D-A33T-08	19198491	228388506	14810867	10	16807											
QRICH1	54870	broad.mit.edu	37	chr3	49069649	49069649	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	agaaatcatagagcttgatgGgacatctcaatggattctct	13	12	9	7	0	3	3	2	1	2	2	5	5	3	5	0	2	1	1	0	2	3	3			TCGA-KK-A7B3-01A-11D-A33T-08	TCGA-KK-A7B3-11A-21D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22aff19c-f5e8-4648-b758-b92784cd8cdf	3b8bec14-e3b8-4447-a11a-96144843d4c1	g.chr3:49069649G>C	ENST00000395443.2	-	9	2577	c.2105C>G	c.(2104-2106)cCc>cGc	p.P702R	QRICH1_ENST00000357496.2_Missense_Mutation_p.P702R|RP13-131K19.6_ENST00000607245.1_RNA|IMPDH2_ENST00000326739.4_5'Flank|QRICH1_ENST00000479449.1_5'Flank|QRICH1_ENST00000424300.1_Missense_Mutation_p.P702R	NM_198880.1	NP_942581.1	Q2TAL8	QRIC1_HUMAN	glutamine-rich 1	702						nucleus (GO:0005634)		p.P702L(1)		breast(2)|endometrium(5)|large_intestine(8)|lung(8)|ovary(1)|skin(1)	25				BRCA - Breast invasive adenocarcinoma(193;8.88e-05)|Kidney(197;0.00239)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)		GAGCTTGATGGGACATCTCAA	0.453																																						ENST00000395443.2																			1	Substitution - Missense(1)	p.P702L(1)	skin(1)	breast(2)|endometrium(5)|large_intestine(8)|lung(8)|ovary(1)|skin(1)	25						c.(2104-2106)cCc>cGc		glutamine-rich 1							240	200	213					3																	49069649		2203	4300	6503	SO:0001583	missense	54870							g.chr3:49069649G>C		CCDS2787.1	3p21.31	2011-06-03			ENSG00000198218	ENSG00000198218			24713	protein-coding gene	gene with protein product						12477932	Standard	NM_017730		Approved	FLJ20259	uc003cvv.3	Q2TAL8	OTTHUMG00000156772	ENST00000395443.2:c.2105C>G	3.37:g.49069649G>C	ENSP00000378830:p.Pro702Arg					QRICH1_ENST00000424300.1_Missense_Mutation_p.P702R|QRICH1_ENST00000357496.2_Missense_Mutation_p.P702R	p.P702R	NM_198880.1	NP_942581.1	Q2TAL8	QRIC1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.88e-05)|Kidney(197;0.00239)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)	9	2577	-			702					Q4G0F7|Q7L621|Q8TEA5	Missense_Mutation	SNP	ENST00000395443.2	37	c.2105C>G	CCDS2787.1	.	.	.	.	.	.	.	.	.	.	G	28.4	4.916815	0.92249	.	.	ENSG00000198218	ENST00000395443;ENST00000357496;ENST00000424300	.	.	.	5.27	5.27	0.74061	.	0.097128	0.64402	D	0.000001	D	0.83207	0.5204	M	0.83774	2.66	0.80722	D	1	D	0.62365	0.991	D	0.67382	0.951	D	0.85809	0.1378	9	0.87932	D	0	-3.5773	18.9477	0.92628	0.0:0.0:1.0:0.0	.	702	Q2TAL8	QRIC1_HUMAN	R	702	.	ENSP00000350094:P702R	P	-	2	0	QRICH1	49044653	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.367000	0.97148	2.490000	0.84030	0.585000	0.79938	CCC		0.453	QRICH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345669.1	NM_017730		9	62	0	0	0	1	0	9	62					C	49069649	G	C	49069649	3	2	330	1	0	0	0	0	1	0	0	0	12879	1232	43	5	233	5	QRICH1	3	49069649	Missense_Mutation	SNP	G	TCGA-KK-A7B3-01A-11D-A33T-08		49069649	148952781	11	16808											
CAMKV	79012	broad.mit.edu	37	chr3	49897143	49897143	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	attatcactctttgcagcacGagcagcatcaccctcagggg	10	9	9	13	1	4	0	3	0	1	0	4	1	4	0	1	2	4	4	1	2	1	2	rs377281206		TCGA-KK-A7B3-01A-11D-A33T-08	TCGA-KK-A7B3-11A-21D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22aff19c-f5e8-4648-b758-b92784cd8cdf	3b8bec14-e3b8-4447-a11a-96144843d4c1	g.chr3:49897143G>A	ENST00000477224.1	-	11	1592	c.1114C>T	c.(1114-1116)Cgt>Tgt	p.R372C	CAMKV_ENST00000488336.1_Intron|CAMKV_ENST00000466940.1_Intron|CAMKV_ENST00000296471.7_Missense_Mutation_p.R344C|CAMKV_ENST00000463537.1_Intron|CAMKV_ENST00000498324.1_5'Flank|CAMKV_ENST00000467248.1_Missense_Mutation_p.R297C			Q8NCB2	CAMKV_HUMAN	CaM kinase-like vesicle-associated	372	Ala-rich.					cytoplasmic vesicle (GO:0031410)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)			central_nervous_system(1)|large_intestine(2)|lung(2)|ovary(2)	7				BRCA - Breast invasive adenocarcinoma(193;4.62e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		TTTGCAGCACGAGCAGCATCA	0.657																																						ENST00000477224.1																			0				central_nervous_system(1)|large_intestine(2)|lung(2)|ovary(2)	7						c.(1114-1116)Cgt>Tgt		CaM kinase-like vesicle-associated		G	CYS/ARG	0,4404		0,0,2202	62	61	61		1114	-0.1	0.1	3		61	1,8599	1.2+/-3.3	0,1,4299	no	missense	CAMKV	NM_024046.3	180	0,1,6501	AA,AG,GG		0.0116,0.0,0.0077	benign	372/502	49897143	1,13003	2202	4300	6502	SO:0001583	missense	79012					cytoplasmic vesicle membrane|plasma membrane	ATP binding|protein serine/threonine kinase activity	g.chr3:49897143G>A	BC017363	CCDS33762.1	3p21.31	2005-03-04			ENSG00000164076	ENSG00000164076			28788	protein-coding gene	gene with protein product		614993				12477932	Standard	XM_005265478		Approved	MGC8407, VACAMKL	uc003cxt.1	Q8NCB2	OTTHUMG00000158288	ENST00000477224.1:c.1114C>T	3.37:g.49897143G>A	ENSP00000419195:p.Arg372Cys					CAMKV_ENST00000488336.1_Intron|CAMKV_ENST00000296471.7_Missense_Mutation_p.R344C|CAMKV_ENST00000463537.1_Intron|CAMKV_ENST00000467248.1_Missense_Mutation_p.R297C|CAMKV_ENST00000466940.1_Intron	p.R372C			Q8NCB2	CAMKV_HUMAN		BRCA - Breast invasive adenocarcinoma(193;4.62e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)	11	1592	-			372			Ala-rich.		A6NFD4|Q6FIB8|Q8NBS8|Q8NC85|Q8NDU4|Q8WTT8|Q9BQC9|Q9H0Q5	Missense_Mutation	SNP	ENST00000477224.1	37	c.1114C>T	CCDS33762.1	.	.	.	.	.	.	.	.	.	.	G	5.663	0.306889	0.10733	0.0	1.16E-4	ENSG00000164076	ENST00000296471;ENST00000477224;ENST00000467248	T;T;T	0.70399	0.45;-0.29;-0.48	4.51	-0.102	0.13613	.	1.693870	0.03894	N	0.279250	T	0.49558	0.1564	N	0.08118	0	0.09310	N	0.999999	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.01281	0.0;0.0;0.0;0.0	T	0.38067	-0.9678	10	0.54805	T	0.06	.	4.384	0.11307	0.3227:0.3342:0.3431:0.0	.	372;297;344;372	B2RDF9;B4DM24;Q8NCB2-2;Q8NCB2	.;.;.;CAMKV_HUMAN	C	344;372;297	ENSP00000296471:R344C;ENSP00000419195:R372C;ENSP00000420053:R297C	ENSP00000296471:R344C	R	-	1	0	CAMKV	49872147	0.008000	0.16893	0.051000	0.19133	0.681000	0.39784	0.048000	0.14078	-0.235000	0.09767	-0.302000	0.09304	CGT		0.657	CAMKV-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350584.4	NM_024046		39	83	0	0	0	1	0	39	83					A	49897143	G	A	49897143	3	1	330	1	0	0	0	0	1	0	0	0	2608	1058	37	2	395	2	CAMKV	3	49897143	Missense_Mutation	SNP	G	TCGA-KK-A7B3-01A-11D-A33T-08	827494	49897143	148125287	12	16809											
UGDH	7358	broad.mit.edu	37	chr4	39511512	39511512	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gctgcttattctctgggcaaGaaaagcatttgctgccttaa	10	13	9	9	0	1	1	0	0	1	1	2	1	1	1	1	1	4	5	1	1	5	4			TCGA-KK-A7B3-01A-11D-A33T-08	TCGA-KK-A7B3-11A-21D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22aff19c-f5e8-4648-b758-b92784cd8cdf	3b8bec14-e3b8-4447-a11a-96144843d4c1	g.chr4:39511512G>C	ENST00000316423.6	-	6	1021	c.679C>G	c.(679-681)Ctt>Gtt	p.L227V	UGDH_ENST00000506179.1_Missense_Mutation_p.L227V|UGDH_ENST00000501493.2_Missense_Mutation_p.L160V|UGDH_ENST00000515398.1_5'Flank|UGDH_ENST00000507089.1_Missense_Mutation_p.L130V	NM_001184701.1|NM_003359.3	NP_001171630.1|NP_003350.1	O60701	UGDH_HUMAN	UDP-glucose 6-dehydrogenase	227	Substrate binding.				cellular glucuronidation (GO:0052695)|gastrulation with mouth forming second (GO:0001702)|glycosaminoglycan biosynthetic process (GO:0006024)|small molecule metabolic process (GO:0044281)|UDP-glucose metabolic process (GO:0006011)|UDP-glucuronate biosynthetic process (GO:0006065)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	electron carrier activity (GO:0009055)|NAD binding (GO:0051287)|UDP-glucose 6-dehydrogenase activity (GO:0003979)			breast(1)|central_nervous_system(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(10)|ovary(3)|skin(1)|urinary_tract(2)	27						CTCTGGGCAAGAAAAGCATTT	0.383																																						ENST00000316423.6																			0				breast(1)|central_nervous_system(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(10)|ovary(3)|skin(1)|urinary_tract(2)	27						c.(679-681)Ctt>Gtt		UDP-glucose 6-dehydrogenase	NADH(DB00157)						71	68	69					4																	39511512		2203	4300	6503	SO:0001583	missense	7358				glycosaminoglycan biosynthetic process|UDP-glucose metabolic process|UDP-glucuronate biosynthetic process|xenobiotic metabolic process	cytosol	electron carrier activity|NAD binding|UDP-glucose 6-dehydrogenase activity	g.chr4:39511512G>C	AF061016	CCDS3455.1, CCDS54757.1, CCDS54758.1	4p14	2011-11-16	2010-04-28		ENSG00000109814	ENSG00000109814	1.1.1.22		12525	protein-coding gene	gene with protein product		603370	"UDP-glucose dehydrogenase"			9737970, 10575217	Standard	NM_003359		Approved		uc003guk.2	O60701	OTTHUMG00000099371	ENST00000316423.6:c.679C>G	4.37:g.39511512G>C	ENSP00000319501:p.Leu227Val					UGDH_ENST00000507089.1_Missense_Mutation_p.L130V|UGDH_ENST00000506179.1_Missense_Mutation_p.L227V|UGDH_ENST00000501493.2_Missense_Mutation_p.L160V	p.L227V	NM_001184701.1|NM_003359.3	NP_001171630.1|NP_003350.1	O60701	UGDH_HUMAN			6	1021	-			227			Substrate binding.		B3KUU2|B4DN25|O60589	Missense_Mutation	SNP	ENST00000316423.6	37	c.679C>G	CCDS3455.1	.	.	.	.	.	.	.	.	.	.	G	14.28	2.487291	0.44249	.	.	ENSG00000109814	ENST00000316423;ENST00000501493;ENST00000506179;ENST00000507089	D;D;D;D	0.86956	-2.13;-1.6;-2.13;-2.19	5.65	4.8	0.61643	UDP-glucose/GDP-mannose dehydrogenase, dimerisation (1);Cytochrome c1, transmembrane anchor, C-terminal (1);6-phosphogluconate dehydrogenase, C-terminal-like (1);	0.109676	0.64402	D	0.000005	D	0.95746	0.8616	H	0.97051	3.93	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.87578	0.998;0.997	D	0.97234	0.9886	10	0.87932	D	0	-0.5056	15.3619	0.74483	0.0:0.0:0.8594:0.1406	.	160;227	B3KUU2;O60701	.;UGDH_HUMAN	V	227;160;227;130	ENSP00000319501:L227V;ENSP00000422909:L160V;ENSP00000421757:L227V;ENSP00000426560:L130V	ENSP00000319501:L227V	L	-	1	0	UGDH	39187907	1.000000	0.71417	0.991000	0.47740	0.027000	0.11550	9.058000	0.93896	1.510000	0.48803	-0.188000	0.12872	CTT		0.383	UGDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216818.3	NM_003359		3	37	0	0	0	1	0	3	37					C	39511512	G	C	39511512	3	2	330	1	0	0	0	0	1	0	0	0	16937	942	33	5	833	5	UGDH	4	39511512	Missense_Mutation	SNP	G	TCGA-KK-A7B3-01A-11D-A33T-08		39511512	151642764	13	16810											
ANKRD50	57182	broad.mit.edu	37	chr4	125631656	125631656	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgcagactttctcttcccaaGgattagtcataacgggtttt	9	15	8	9	1	2	1	1	0	1	1	4	2	3	2	1	2	2	2	1	2	3	6			TCGA-KK-A7B3-01A-11D-A33T-08	TCGA-KK-A7B3-11A-21D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22aff19c-f5e8-4648-b758-b92784cd8cdf	3b8bec14-e3b8-4447-a11a-96144843d4c1	g.chr4:125631656G>T	ENST00000504087.1	-	2	1048	c.11C>A	c.(10-12)cCt>cAt	p.P4H	ANKRD50_ENST00000515641.1_Intron	NM_020337.2	NP_065070.1	Q9ULJ7	ANR50_HUMAN	ankyrin repeat domain 50	4										NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(14)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	55						CTCTTCCCAAGGATTAGTCAT	0.403																																						ENST00000504087.1																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(14)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	55						c.(10-12)cCt>cAt		ankyrin repeat domain 50																																				SO:0001583	missense	57182							g.chr4:125631656G>T	AB033049	CCDS34060.1, CCDS54802.1	4q28.1	2013-01-10			ENSG00000151458	ENSG00000151458		"Ankyrin repeat domain containing"	29223	protein-coding gene	gene with protein product							Standard	NM_020337		Approved	KIAA1223	uc010inw.3	Q9ULJ7	OTTHUMG00000161398	ENST00000504087.1:c.11C>A	4.37:g.125631656G>T	ENSP00000425658:p.Pro4His					ANKRD50_ENST00000515641.1_Intron	p.P4H	NM_020337.2	NP_065070.1	Q9ULJ7	ANR50_HUMAN			2	1048	-			4					A8K4V3|B4DHJ6|E9PDW0|Q6N064|Q6ZSE6	Missense_Mutation	SNP	ENST00000504087.1	37	c.11C>A	CCDS34060.1	.	.	.	.	.	.	.	.	.	.	G	18.19	3.568094	0.65651	.	.	ENSG00000151458	ENST00000504087	T	0.18174	2.23	4.99	4.99	0.66335	.	0.000000	0.53938	D	0.000045	T	0.13030	0.0316	N	0.08118	0	0.80722	D	1	D	0.52996	0.957	P	0.45377	0.478	T	0.08785	-1.0705	10	0.87932	D	0	.	16.9949	0.86365	0.0:0.0:1.0:0.0	.	4	Q9ULJ7	ANR50_HUMAN	H	4	ENSP00000425658:P4H	ENSP00000425658:P4H	P	-	2	0	ANKRD50	125851106	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.821000	0.48065	2.756000	0.94617	0.561000	0.74099	CCT		0.403	ANKRD50-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364775.1	NM_020337		4	168	1	0	1	1	1	4	168					T	125631656	G	T	125631656	3	4	330	1	0	0	0	0	1	0	0	0	677	1000	35	5	4290	5	ANKRD50	4	125631656	Missense_Mutation	SNP	G	TCGA-KK-A7B3-01A-11D-A33T-08	86120144	125631656	65522620	14	16811											
UGT3A1	133688	broad.mit.edu	37	chr5	35968133	35968133	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaagttacctgccatccaatGctgtttctatgtagctatca	10	14	7	10	0	2	0	1	0	1	0	3	1	3	0	3	0	4	5	3	0	6	5			TCGA-KK-A7B3-01A-11D-A33T-08	TCGA-KK-A7B3-11A-21D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22aff19c-f5e8-4648-b758-b92784cd8cdf	3b8bec14-e3b8-4447-a11a-96144843d4c1	g.chr5:35968133G>T	ENST00000274278.3	-	3	656	c.299C>A	c.(298-300)gCa>gAa	p.A100E	UGT3A1_ENST00000507113.1_Missense_Mutation_p.A66E|UGT3A1_ENST00000333811.4_Missense_Mutation_p.A46E|UGT3A1_ENST00000503189.1_Missense_Mutation_p.A100E|UGT3A1_ENST00000513233.1_Intron	NM_152404.3	NP_689617.3	Q6NUS8	UD3A1_HUMAN	UDP glycosyltransferase 3 family, polypeptide A1	100						integral component of membrane (GO:0016021)|UDP-N-acetylglucosamine transferase complex (GO:0043541)	glucuronosyltransferase activity (GO:0015020)|UDP-glycosyltransferase activity (GO:0008194)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|skin(4)	46	all_lung(31;0.000197)		Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			GCCATCCAATGCTGTTTCTAT	0.328																																						ENST00000274278.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|skin(4)	46						c.(298-300)gCa>gAa		UDP glycosyltransferase 3 family, polypeptide A1							99	94	95					5																	35968133		2203	4300	6503	SO:0001583	missense	133688					integral to membrane	glucuronosyltransferase activity	g.chr5:35968133G>T		CCDS3913.1, CCDS54841.1	5p13.2	2014-05-20			ENSG00000145626	ENSG00000145626		"UDP glucuronosyltransferases"	26625	protein-coding gene	gene with protein product							Standard	NM_152404		Approved	FLJ34658	uc003jjv.2	Q6NUS8	OTTHUMG00000131107	ENST00000274278.3:c.299C>A	5.37:g.35968133G>T	ENSP00000274278:p.Ala100Glu					UGT3A1_ENST00000503189.1_Missense_Mutation_p.A100E|UGT3A1_ENST00000333811.4_Missense_Mutation_p.A46E|UGT3A1_ENST00000513233.1_Intron|UGT3A1_ENST00000507113.1_Missense_Mutation_p.A66E	p.A100E	NM_152404.3	NP_689617.3	Q6NUS8	UD3A1_HUMAN	Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		3	656	-	all_lung(31;0.000197)		100					G5E961|Q8IYS9|Q8NAW4|Q96DM6	Missense_Mutation	SNP	ENST00000274278.3	37	c.299C>A	CCDS3913.1	.	.	.	.	.	.	.	.	.	.	G	6.173	0.400179	0.11696	.	.	ENSG00000145626	ENST00000274278;ENST00000503189;ENST00000507113;ENST00000333811	T;T;T;T	0.61274	0.22;0.22;0.12;0.12	2.7	0.426	0.16479	.	31.386800	0.00664	N	0.000605	T	0.51398	0.1672	L	0.46157	1.445	0.09310	N	1	P;B;P;B	0.39940	0.695;0.27;0.696;0.24	P;B;B;B	0.45946	0.498;0.216;0.438;0.232	T	0.40701	-0.9549	10	0.02654	T	1	.	3.6144	0.08071	0.1752:0.4147:0.4101:0.0	.	66;100;46;100	E9PD17;B7Z8Q8;G5E961;Q6NUS8	.;.;.;UD3A1_HUMAN	E	100;100;66;46	ENSP00000274278:A100E;ENSP00000427079:A100E;ENSP00000426100:A66E;ENSP00000328033:A46E	ENSP00000274278:A100E	A	-	2	0	UGT3A1	36003890	0.000000	0.05858	0.001000	0.08648	0.029000	0.11900	-1.168000	0.03123	0.241000	0.21283	0.455000	0.32223	GCA		0.328	UGT3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253770.2	NM_152404		10	21	1	0	2.17888e-05	1	2.26603e-05	10	21					T	35968133	G	T	35968133	3	4	330	1	0	0	0	0	1	0	0	0	16960	1319	46	5	1374	5	UGT3A1	5	35968133	Missense_Mutation	SNP	G	TCGA-KK-A7B3-01A-11D-A33T-08		35968133	144947127	15	16812											
SLIT3	6586	broad.mit.edu	37	chr5	168176626	168176626	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggcagttgcagttgaaggggTtggacaggaggtttctagga	9	10	18	4	0	1	1	0	1	1	0	1	4	1	4	0	7	1	6	0	7	2	5			TCGA-KK-A7B3-01A-11D-A33T-08	TCGA-KK-A7B3-11A-21D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22aff19c-f5e8-4648-b758-b92784cd8cdf	3b8bec14-e3b8-4447-a11a-96144843d4c1	g.chr5:168176626T>C	ENST00000519560.1	-	19	2407	c.1988A>G	c.(1987-1989)aAc>aGc	p.N663S	SLIT3_ENST00000332966.8_Missense_Mutation_p.N663S|SLIT3_ENST00000404867.3_Missense_Mutation_p.N663S	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053	O75094	SLIT3_HUMAN	slit homolog 3 (Drosophila)	663	LRRCT 3.				apoptotic process involved in luteolysis (GO:0061364)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|cellular response to hormone stimulus (GO:0032870)|negative chemotaxis (GO:0050919)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of gene expression (GO:0010629)|organ morphogenesis (GO:0009887)|response to cortisol (GO:0051414)|Roundabout signaling pathway (GO:0035385)	extracellular space (GO:0005615)|mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)|Roundabout binding (GO:0048495)			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GTTGAAGGGGTTGGACAGGAG	0.587																																					Ovarian(29;311 847 10864 17279 24903)	ENST00000519560.1																			0				endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100						c.(1987-1989)aAc>aGc		slit homolog 3 (Drosophila)							107	119	115					5																	168176626		2203	4300	6503	SO:0001583	missense	6586				apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway	extracellular space|mitochondrion	calcium ion binding|Roundabout binding	g.chr5:168176626T>C	AB011538	CCDS4369.1, CCDS64311.1	5q35	2008-07-18	2001-11-28		ENSG00000184347	ENSG00000184347			11087	protein-coding gene	gene with protein product		603745	"slit (Drosophila) homolog 3"	SLIL2		9693030, 9813312	Standard	NM_001271946		Approved	slit2, MEGF5, SLIT1, Slit-3	uc010jjg.4	O75094	OTTHUMG00000130409	ENST00000519560.1:c.1988A>G	5.37:g.168176626T>C	ENSP00000430333:p.Asn663Ser					SLIT3_ENST00000404867.3_Missense_Mutation_p.N663S|SLIT3_ENST00000332966.8_Missense_Mutation_p.N663S	p.N663S	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053.1	O75094	SLIT3_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		19	2407	-	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	663			LRRCT 3.		A6H8U9|J3KNP3|O95804|Q9UFH5	Missense_Mutation	SNP	ENST00000519560.1	37	c.1988A>G	CCDS4369.1	.	.	.	.	.	.	.	.	.	.	T	24.7	4.558835	0.86231	.	.	ENSG00000184347	ENST00000519560;ENST00000332966;ENST00000404867	T;T;T	0.72505	-0.66;-0.66;-0.66	5.42	5.42	0.78866	Cysteine-rich flanking region, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.89100	0.6619	H	0.96239	3.79	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.92565	0.6061	10	0.87932	D	0	.	15.4652	0.75394	0.0:0.0:0.0:1.0	.	663	O75094	SLIT3_HUMAN	S	663	ENSP00000430333:N663S;ENSP00000332164:N663S;ENSP00000384890:N663S	ENSP00000332164:N663S	N	-	2	0	SLIT3	168109204	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.698000	0.84413	2.043000	0.60533	0.533000	0.62120	AAC		0.587	SLIT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252792.4	NM_003062		28	62	0	0	0	1	0	28	62					C	168176626	T	C	168176626	3	2	330	1	0	0	0	0	1	0	0	0	14741	1725	60	4	2655	4	SLIT3	5	168176626	Missense_Mutation	SNP	T	TCGA-KK-A7B3-01A-11D-A33T-08	132208493	168176626	12738634	16	16813											
GCK	2645	broad.mit.edu	37	chr7	44184841	44184841	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggtgatctcgcagctgggcGtcagcctgcgcacgctggca	6	7	15	13	4	2	1	1	1	1	0	3	1	2	1	1	3	3	5	1	3	0	0	rs193922274		TCGA-KK-A7B3-01A-11D-A33T-08	TCGA-KK-A7B3-11A-21D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22aff19c-f5e8-4648-b758-b92784cd8cdf	3b8bec14-e3b8-4447-a11a-96144843d4c1	g.chr7:44184841G>A	ENST00000403799.3	-	10	1761	c.1292C>T	c.(1291-1293)aCg>aTg	p.T431M	GCK_ENST00000395796.3_Missense_Mutation_p.T430M|GCK_ENST00000437084.1_Missense_Mutation_p.T414M|GCK_ENST00000345378.2_Missense_Mutation_p.T432M	NM_000162.3	NP_000153.1	P35557	HXK4_HUMAN	glucokinase (hexokinase 4)	431	Hexokinase type-2.				calcium ion import (GO:0070509)|carbohydrate metabolic process (GO:0005975)|cellular glucose homeostasis (GO:0001678)|cellular response to glucose starvation (GO:0042149)|cellular response to insulin stimulus (GO:0032869)|cellular response to leptin stimulus (GO:0044320)|detection of glucose (GO:0051594)|endocrine pancreas development (GO:0031018)|fructose 2,6-bisphosphate metabolic process (GO:0006003)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glucose transport (GO:0015758)|glycogen biosynthetic process (GO:0005978)|glycolytic process (GO:0006096)|hexose transport (GO:0008645)|NADP metabolic process (GO:0006739)|negative regulation of epinephrine secretion (GO:0032811)|negative regulation of gluconeogenesis (GO:0045721)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of glycolytic process (GO:0045821)|positive regulation of insulin secretion (GO:0032024)|positive regulation of phosphorylation (GO:0042327)|regulation of glucose transport (GO:0010827)|regulation of glycolytic process (GO:0006110)|regulation of insulin secretion (GO:0050796)|regulation of potassium ion transport (GO:0043266)|second-messenger-mediated signaling (GO:0019932)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|secretory granule (GO:0030141)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|glucokinase activity (GO:0004340)|glucose binding (GO:0005536)|magnesium ion binding (GO:0000287)			central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	37						GCAGCTGGGCGTCAGCCTGCG	0.652																																						ENST00000403799.3																			0				central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	37						c.(1291-1293)aCg>aTg		glucokinase (hexokinase 4)							26	29	28					7																	44184841		2203	4300	6503	SO:0001583	missense	2645				cellular response to insulin stimulus|cellular response to leptin stimulus|detection of glucose|endocrine pancreas development|glucose homeostasis|glucose transport|glycolysis|negative regulation of gluconeogenesis|positive regulation of glycogen biosynthetic process|positive regulation of insulin secretion|regulation of glucose transport|regulation of glycolysis|transmembrane transport	cytosol|nucleoplasm	ATP binding|glucokinase activity|glucose binding|protein binding	g.chr7:44184841G>A	AF041014	CCDS5479.1, CCDS5480.1, CCDS5481.1	7p15.3-p15.1	2008-02-07	2008-02-07		ENSG00000106633	ENSG00000106633	2.7.1.2, 2.7.1.1		4195	protein-coding gene	gene with protein product		138079	"maturity onset diabetes of the young 2"	MODY2		1740341, 1502186	Standard	NM_033507		Approved	HK4	uc003tkk.1	P35557	OTTHUMG00000022903	ENST00000403799.3:c.1292C>T	7.37:g.44184841G>A	ENSP00000384247:p.Thr431Met					GCK_ENST00000437084.1_Missense_Mutation_p.T414M|GCK_ENST00000395796.3_Missense_Mutation_p.T430M|GCK_ENST00000345378.2_Missense_Mutation_p.T432M	p.T431M	NM_000162.3	NP_000153.1	P35557	HXK4_HUMAN			10	1761	-			431					A4D2J2|A4D2J3|Q05810	Missense_Mutation	SNP	ENST00000403799.3	37	c.1292C>T	CCDS5479.1	.	.	.	.	.	.	.	.	.	.	G	26.1	4.700477	0.88924	.	.	ENSG00000106633	ENST00000336642;ENST00000403799;ENST00000395796;ENST00000345378;ENST00000437084	D;D;D;D;D	0.96365	-3.99;-3.99;-3.99;-3.99;-3.99	5.83	5.83	0.93111	Hexokinase, C-terminal (1);	0.255590	0.45126	D	0.000400	D	0.97266	0.9106	L	0.43152	1.355	0.58432	D	0.999998	D;D;D;D;D	0.89917	1.0;0.968;0.999;0.999;1.0	D;P;D;D;D	0.81914	0.981;0.598;0.974;0.956;0.995	D	0.97464	1.0036	10	0.56958	D	0.05	-42.8524	19.7259	0.96164	0.0:0.0:1.0:0.0	.	431;432;430;414;431	P35557;P35557-2;P35557-3;C9JQD1;A7LFL1	HXK4_HUMAN;.;.;.;.	M	115;431;430;432;414	ENSP00000338009:T115M;ENSP00000384247:T431M;ENSP00000379142:T430M;ENSP00000223366:T432M;ENSP00000402840:T414M	ENSP00000338009:T115M	T	-	2	0	GCK	44151366	0.982000	0.34865	1.000000	0.80357	0.962000	0.63368	3.482000	0.53186	2.756000	0.94617	0.561000	0.74099	ACG		0.652	GCK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251069.2			5	22	0	0	0	1	0	5	22					A	44184841	G	A	44184841	3	1	330	1	0	0	0	0	1	0	0	0	6293	1145	40	1	109	1	GCK	7	44184841	Missense_Mutation	SNP	G	TCGA-KK-A7B3-01A-11D-A33T-08		44184841	114953822	17	16814											
MGAM	8972	broad.mit.edu	37	chr7	141758013	141758013	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tattttctagttgattggccGgcctgtgatggtaccttact	6	17	10	8	1	1	2	0	2	1	0	1	2	1	2	3	3	2	2	3	3	4	8			TCGA-KK-A7B3-01A-11D-A33T-08	TCGA-KK-A7B3-11A-21D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22aff19c-f5e8-4648-b758-b92784cd8cdf	3b8bec14-e3b8-4447-a11a-96144843d4c1	g.chr7:141758013G>A	ENST00000549489.2	+	31	3799	c.3704G>A	c.(3703-3705)cGg>cAg	p.R1235Q	MGAM_ENST00000475668.2_Missense_Mutation_p.R1235Q	NM_004668.2	NP_004659.2	O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	1235	Glucoamylase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	TTGATTGGCCGGCCTGTGATG	0.438																																						ENST00000475668.2																			0				cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13						c.(3703-3705)cGg>cAg		maltase-glucoamylase (alpha-glucosidase)	Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)						257	248	251					7																	141758013		1899	4110	6009	SO:0001583	missense	8972				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity	g.chr7:141758013G>A	AF016833	CCDS47727.1	7q34	2012-10-03			ENSG00000257335	ENSG00000257335			7043	protein-coding gene	gene with protein product		154360				9446624	Standard	NM_004668		Approved	MGA	uc003vwy.3	O43451	OTTHUMG00000158395	ENST00000549489.2:c.3704G>A	7.37:g.141758013G>A	ENSP00000447378:p.Arg1235Gln					MGAM_ENST00000549489.2_Missense_Mutation_p.R1235Q	p.R1235Q			O43451	MGA_HUMAN			31	3758	+	Melanoma(164;0.0272)		1235			Glucoamylase.		Q0VAX6|Q75ME7|Q86UM5	Missense_Mutation	SNP	ENST00000549489.2	37	c.3704G>A	CCDS47727.1	.	.	.	.	.	.	.	.	.	.	g	15.08	2.727725	0.48833	.	.	ENSG00000257335	ENST00000549489;ENST00000475668;ENST00000548812	D	0.91894	-2.93	3.72	2.82	0.32997	Glycoside hydrolase, superfamily (1);	.	.	.	.	D	0.91710	0.7379	M	0.88775	2.98	0.34644	D	0.720921	P	0.51933	0.949	B	0.40659	0.336	D	0.91493	0.5213	9	0.38643	T	0.18	.	10.4401	0.44460	0.1032:0.0:0.8968:0.0	.	1235	O43451	MGA_HUMAN	Q	1235;1235;1112	ENSP00000447378:R1235Q	ENSP00000316431:R1112Q	R	+	2	0	MGAM	141404482	1.000000	0.71417	0.809000	0.32408	0.350000	0.29205	6.483000	0.73617	0.521000	0.28445	0.173000	0.16961	CGG		0.438	MGAM-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000351244.3			4	262	0	0	0	1	0	4	262					A	141758013	G	A	141758013	3	1	330	1	0	0	0	0	1	0	0	0	9541	1116	39	2	3822	2	MGAM	7	141758013	Missense_Mutation	SNP	G	TCGA-KK-A7B3-01A-11D-A33T-08	97573172	141758013	17380650	18	16815											
ADAMTSL1	92949	broad.mit.edu	37	chr9	18474243	18474243	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atccaagcatggaatgctgcCgtcgggcaactcctggcaca	10	7	11	13	2	0	0	0	0	0	0	3	1	2	1	3	3	4	4	3	3	3	0			TCGA-KK-A7B3-01A-11D-A33T-08	TCGA-KK-A7B3-11A-21D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22aff19c-f5e8-4648-b758-b92784cd8cdf	3b8bec14-e3b8-4447-a11a-96144843d4c1	g.chr9:18474243C>G	ENST00000380548.4	+	1	352	c.13C>G	c.(13-15)Cgt>Ggt	p.R5G	ADAMTSL1_ENST00000431052.2_Missense_Mutation_p.R5G|ADAMTSL1_ENST00000276935.6_Missense_Mutation_p.R5G|ADAMTSL1_ENST00000327883.7_Missense_Mutation_p.R5G|ADAMTSL1_ENST00000380570.4_Missense_Mutation_p.R5G|ADAMTSL1_ENST00000380566.4_Missense_Mutation_p.R5G	NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1	5						proteinaceous extracellular matrix (GO:0005578)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		GGAATGCTGCCGTCGGGCAAC	0.507																																						ENST00000380548.4																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42						c.(13-15)Cgt>Ggt		ADAMTS-like 1							185	159	168					9																	18474243		2203	4300	6503	SO:0001583	missense	92949					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding	g.chr9:18474243C>G	AF176313	CCDS6485.1, CCDS47954.1	9p21.3	2013-01-11			ENSG00000178031	ENSG00000178031		"Immunoglobulin superfamily / I-set domain containing"	14632	protein-coding gene	gene with protein product	"punctin"	609198	"chromosome 9 open reading frame 94"	C9orf94		9628581, 11805097	Standard	NM_001040272		Approved	ADAMTSR1, FLJ35283	uc003zne.4	Q8N6G6	OTTHUMG00000019604	ENST00000380548.4:c.13C>G	9.37:g.18474243C>G	ENSP00000369921:p.Arg5Gly					ADAMTSL1_ENST00000276935.6_Missense_Mutation_p.R5G|ADAMTSL1_ENST00000431052.2_Missense_Mutation_p.R5G|ADAMTSL1_ENST00000380570.4_Missense_Mutation_p.R5G|ADAMTSL1_ENST00000380566.4_Missense_Mutation_p.R5G|ADAMTSL1_ENST00000327883.7_Missense_Mutation_p.R5G	p.R5G	NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN		GBM - Glioblastoma multiforme(50;1.29e-17)	1	352	+			5					A6PVN1|A8K7E1|Q496M6|Q496M8|Q5T708|Q5VZT8|Q8NAI9|Q96RW4|Q9BXY3	Missense_Mutation	SNP	ENST00000380548.4	37	c.13C>G	CCDS47954.1	.	.	.	.	.	.	.	.	.	.	C	10.57	1.385968	0.25031	.	.	ENSG00000178031	ENST00000380548;ENST00000327883;ENST00000431052;ENST00000380570;ENST00000380566;ENST00000276935	T;T;T;T;T;T	0.66638	-0.01;-0.0;-0.15;-0.22;-0.06;-0.03	5.84	5.84	0.93424	.	.	.	.	.	T	0.50120	0.1597	N	0.08118	0	0.80722	D	1	B;B	0.15473	0.013;0.0	B;B	0.14023	0.01;0.002	T	0.49331	-0.8951	9	0.87932	D	0	.	16.3845	0.83500	0.0:0.8684:0.1316:0.0	.	5;5	Q8N6G6;Q8N6G6-2	ATL1_HUMAN;.	G	5	ENSP00000369921:R5G;ENSP00000327887:R5G;ENSP00000401157:R5G;ENSP00000369944:R5G;ENSP00000369940:R5G;ENSP00000276935:R5G	ENSP00000276935:R5G	R	+	1	0	ADAMTSL1	18464243	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.448000	0.35112	2.751000	0.94390	0.655000	0.94253	CGT		0.507	ADAMTSL1-012	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401206.1			39	52	0	0	0	1	0	39	52					G	18474243	C	G	18474243	3	3	330	1	0	0	0	0	1	0	0	0	274	652	23	5	15	5	ADAMTSL1	9	18474243	Missense_Mutation	SNP	C	TCGA-KK-A7B3-01A-11D-A33T-08		18474243	122739188	19	16816											
MUSK	4593	broad.mit.edu	37	chr9	113431241	113431241	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cttactctggttgccttcagCggaactgagaaacttccaaa	11	11	8	11	1	2	1	1	1	1	1	3	3	3	2	2	2	5	1	2	2	4	4			TCGA-KK-A7B3-01A-11D-A33T-08	TCGA-KK-A7B3-11A-21D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22aff19c-f5e8-4648-b758-b92784cd8cdf	3b8bec14-e3b8-4447-a11a-96144843d4c1	g.chr9:113431241C>A	ENST00000374448.4	+	1	191	c.57C>A	c.(55-57)agC>agA	p.S19R	MUSK_ENST00000416899.2_Missense_Mutation_p.S19R|MUSK_ENST00000374440.3_5'UTR|MUSK_ENST00000189978.5_Missense_Mutation_p.S19R	NM_001166281.1|NM_005592.3	NP_001159753.1|NP_005583.1	O15146	MUSK_HUMAN	muscle, skeletal, receptor tyrosine kinase	19					cell differentiation (GO:0030154)|extracellular matrix organization (GO:0030198)|memory (GO:0007613)|multicellular organismal development (GO:0007275)|neuromuscular junction development (GO:0007528)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of protein geranylgeranylation (GO:2000541)|positive regulation of protein phosphorylation (GO:0001934)|protein autophosphorylation (GO:0046777)|regulation of synaptic growth at neuromuscular junction (GO:0008582)|regulation of transcription, DNA-templated (GO:0006355)|skeletal muscle acetylcholine-gated channel clustering (GO:0071340)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|neuromuscular junction (GO:0031594)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(23)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	49						TTGCCTTCAGCGGAACTGAGA	0.443																																						ENST00000416899.2																			0				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(23)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	49						c.(55-57)agC>agA		muscle, skeletal, receptor tyrosine kinase							332	319	323					9																	113431241		1903	4124	6027	SO:0001583	missense	4593				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr9:113431241C>A	AF006464	CCDS48005.1, CCDS75874.1	9q31.3-q32	2013-01-29			ENSG00000030304	ENSG00000030304		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	7525	protein-coding gene	gene with protein product		601296				7546737	Standard	NM_005592		Approved		uc022blv.1	O15146	OTTHUMG00000020485	ENST00000374448.4:c.57C>A	9.37:g.113431241C>A	ENSP00000363571:p.Ser19Arg					MUSK_ENST00000374440.3_5'UTR|MUSK_ENST00000189978.5_Missense_Mutation_p.S19R|MUSK_ENST00000374448.4_Missense_Mutation_p.S19R	p.S19R			O15146	MUSK_HUMAN			1	183	+			19					Q32MJ8|Q32MJ9|Q5VZW7|Q5VZW8	Missense_Mutation	SNP	ENST00000374448.4	37	c.57C>A	CCDS48005.1	.	.	.	.	.	.	.	.	.	.	C	17.79	3.475404	0.63737	.	.	ENSG00000030304	ENST00000189978;ENST00000374448;ENST00000543335;ENST00000374447;ENST00000545907;ENST00000416899	T	0.74106	-0.81	5.18	2.32	0.28847	.	0.058589	0.64402	D	0.000005	T	0.72542	0.3473	L	0.27053	0.805	0.80722	D	1	D;D	0.69078	0.997;0.992	P;P	0.60415	0.854;0.874	T	0.71567	-0.4554	10	0.72032	D	0.01	.	9.5892	0.39534	0.0:0.7676:0.0:0.2324	.	19;19	O15146;F5H6T2	MUSK_HUMAN;.	R	19	ENSP00000363571:S19R	ENSP00000189978:S19R	S	+	3	2	MUSK	112471062	0.964000	0.33143	1.000000	0.80357	0.815000	0.46073	0.504000	0.22626	0.206000	0.20587	0.557000	0.71058	AGC		0.443	MUSK-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding				46	147	1	0	3.4597e-24	1	3.91097e-24	46	147					A	113431241	C	A	113431241	3	1	330	1	0	0	0	0	1	0	0	0	9989	767	27	5	59	5	MUSK	9	113431241	Missense_Mutation	SNP	C	TCGA-KK-A7B3-01A-11D-A33T-08	94956998	113431241	27782190	20	16817											
DHTKD1	55526	broad.mit.edu	37	chr10	12149963	12149963	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atcctccttccacatggctaCgatggggctgggccagacca	8	8	11	14	1	0	1	0	0	0	1	3	2	3	1	5	4	1	2	5	4	1	2			TCGA-KK-A7B3-01A-11D-A33T-08	TCGA-KK-A7B3-11A-21D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22aff19c-f5e8-4648-b758-b92784cd8cdf	3b8bec14-e3b8-4447-a11a-96144843d4c1	g.chr10:12149963C>T	ENST00000263035.4	+	12	2165	c.2103C>T	c.(2101-2103)taC>taT	p.Y701Y		NM_018706.5	NP_061176	Q96HY7	DHTK1_HUMAN	dehydrogenase E1 and transketolase domain containing 1	701					cell death (GO:0008219)|generation of precursor metabolites and energy (GO:0006091)|glycolytic process (GO:0006096)|hematopoietic progenitor cell differentiation (GO:0002244)|tricarboxylic acid cycle (GO:0006099)	mitochondrion (GO:0005739)	oxoglutarate dehydrogenase (succinyl-transferring) activity (GO:0004591)|thiamine pyrophosphate binding (GO:0030976)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(1)	44		Renal(717;0.228)	BRCA - Breast invasive adenocarcinoma(52;0.188)			CACATGGCTACGATGGGGCTG	0.542																																						ENST00000263035.4																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(1)	44						c.(2101-2103)taC>taT		dehydrogenase E1 and transketolase domain containing 1							135	106	116					10																	12149963		2203	4300	6503	SO:0001819	synonymous_variant	55526				glycolysis	mitochondrion	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding	g.chr10:12149963C>T	BC002477	CCDS7087.1	10p14	2003-11-24			ENSG00000181192	ENSG00000181192			23537	protein-coding gene	gene with protein product		614984				10997877	Standard	NM_018706		Approved	KIAA1630, MGC3090, DKFZP762M115	uc001ild.5	Q96HY7	OTTHUMG00000017677	ENST00000263035.4:c.2103C>T	10.37:g.12149963C>T							p.Y701Y	NM_018706.5	NP_061176.3	Q96HY7	DHTK1_HUMAN	BRCA - Breast invasive adenocarcinoma(52;0.188)		12	2165	+		Renal(717;0.228)	701					Q68CU5|Q9BUM8|Q9HCE2	Silent	SNP	ENST00000263035.4	37	c.2103C>T	CCDS7087.1																																																																																				0.542	DHTKD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046777.1	NM_018706		13	42	0	0	0	1	0	13	42					T	12149963	C	T	12149963	2	4	330	1	0	0	0	0	0	0	0	1	4500	547	19	1		1	DHTKD1	10	12149963	Silent	SNP	C	TCGA-KK-A7B3-01A-11D-A33T-08		12149963	123384784	21	16818											
DKK1	22943	broad.mit.edu	37	chr10	54074801	54074801	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caggaagcgccgaaaacgctGcatgcgtcacgctatgtgct	10	7	12	12	5	1	0	1	0	0	0	1	2	1	1	1	1	5	4	1	1	4	1			TCGA-KK-A7B3-01A-11D-A33T-08	TCGA-KK-A7B3-11A-21D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22aff19c-f5e8-4648-b758-b92784cd8cdf	3b8bec14-e3b8-4447-a11a-96144843d4c1	g.chr10:54074801G>A	ENST00000373970.3	+	2	501	c.362G>A	c.(361-363)tGc>tAc	p.C121Y	PRKG1-AS1_ENST00000420193.1_RNA|DKK1_ENST00000467359.1_3'UTR	NM_012242.2	NP_036374.1	O94907	DKK1_HUMAN	dickkopf WNT signaling pathway inhibitor 1	121	DKK-type Cys-1.				cell morphogenesis involved in differentiation (GO:0000904)|embryonic limb morphogenesis (GO:0030326)|endoderm formation (GO:0001706)|extracellular negative regulation of signal transduction (GO:1900116)|face morphogenesis (GO:0060325)|forebrain development (GO:0030900)|hair follicle development (GO:0001942)|mesoderm formation (GO:0001707)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of canonical Wnt signaling pathway involved in cardiac muscle cell fate commitment (GO:1901296)|negative regulation of cardiac muscle cell differentiation (GO:2000726)|negative regulation of mesodermal cell fate specification (GO:0042662)|negative regulation of pathway-restricted SMAD protein phosphorylation (GO:0060394)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|negative regulation of protein complex assembly (GO:0031333)|negative regulation of skeletal muscle tissue development (GO:0048642)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of Wnt signaling pathway (GO:0030178)|positive regulation of heart induction by negative regulation of canonical Wnt signaling pathway (GO:0090082)|regulation of endodermal cell fate specification (GO:0042663)|regulation of receptor internalization (GO:0002090)|response to retinoic acid (GO:0032526)|Wnt signaling pathway involved in somitogenesis (GO:0090244)	extracellular space (GO:0005615)|plasma membrane (GO:0005886)	growth factor activity (GO:0008083)|low-density lipoprotein particle receptor binding (GO:0050750)|receptor antagonist activity (GO:0048019)|signal transducer activity (GO:0004871)			kidney(2)|large_intestine(4)|lung(7)|ovary(1)|upper_aerodigestive_tract(2)	16						CGAAAACGCTGCATGCGTCAC	0.572											OREG0020191	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000373970.3																			0				kidney(2)|large_intestine(4)|lung(7)|ovary(1)|upper_aerodigestive_tract(2)	16						c.(361-363)tGc>tAc		dickkopf WNT signaling pathway inhibitor 1							49	45	46					10																	54074801		2203	4300	6503	SO:0001583	missense	22943				negative regulation of peptidyl-serine phosphorylation|negative regulation of protein complex assembly|negative regulation of transcription from RNA polymerase II promoter|positive regulation of heart induction by negative regulation of canonical Wnt receptor signaling pathway|regulation of receptor internalization	extracellular space|plasma membrane	growth factor activity|low-density lipoprotein particle receptor binding|receptor antagonist activity|signal transducer activity	g.chr10:54074801G>A		CCDS7246.1	10q11.2	2013-05-15	2013-05-15		ENSG00000107984	ENSG00000107984			2891	protein-coding gene	gene with protein product		605189	"dickkopf (Xenopus laevis) homolog 1", "dickkopf 1 homolog (Xenopus laevis)"				Standard	NM_012242		Approved	SK, DKK-1	uc001jjr.3	O94907	OTTHUMG00000018247	ENST00000373970.3:c.362G>A	10.37:g.54074801G>A	ENSP00000363081:p.Cys121Tyr		OREG0020191	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	997	DKK1_ENST00000467359.1_3'UTR	p.C121Y	NM_012242.2	NP_036374.1	O94907	DKK1_HUMAN			2	501	+			121			DKK-type Cys-1.		B2RC19	Missense_Mutation	SNP	ENST00000373970.3	37	c.362G>A	CCDS7246.1	.	.	.	.	.	.	.	.	.	.	G	31	5.073844	0.94000	.	.	ENSG00000107984	ENST00000373970	T	0.75367	-0.93	5.63	5.63	0.86233	Dickkopf, N-terminal cysteine-rich (1);	0.000000	0.85682	D	0.000000	D	0.87947	0.6306	M	0.82517	2.595	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.89071	0.3469	10	0.87932	D	0	-3.4279	19.2694	0.94003	0.0:0.0:1.0:0.0	.	121	O94907	DKK1_HUMAN	Y	121	ENSP00000363081:C121Y	ENSP00000363081:C121Y	C	+	2	0	DKK1	53744807	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.373000	0.97168	2.639000	0.89480	0.650000	0.86243	TGC		0.572	DKK1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048100.1			6	34	0	0	0	1	0	6	34					A	54074801	G	A	54074801	3	1	330	1	0	0	0	0	1	0	0	0	4544	1319	46	3	368	3	DKK1	10	54074801	Missense_Mutation	SNP	G	TCGA-KK-A7B3-01A-11D-A33T-08	41924838	54074801	81459946	22	16819											
SLC18A2	6571	broad.mit.edu	37	chr10	119003664	119003664	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acctgacacttcatcagaccGccacacagcacatggtgacc	12	6	7	16	1	2	3	2	2	0	1	2	3	2	3	4	1	1	1	4	1	0	1			TCGA-KK-A7B3-01A-11D-A33T-08	TCGA-KK-A7B3-11A-21D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22aff19c-f5e8-4648-b758-b92784cd8cdf	3b8bec14-e3b8-4447-a11a-96144843d4c1	g.chr10:119003664G>A	ENST00000298472.5	+	3	447	c.304G>A	c.(304-306)Gcc>Acc	p.A102T	SLC18A2_ENST00000497497.1_3'UTR|RP11-501J20.5_ENST00000425264.1_RNA	NM_003054.4	NP_003045.2	Q05940	VMAT2_HUMAN	solute carrier family 18 (vesicular monoamine transporter), member 2	102					aging (GO:0007568)|cellular response to ammonium ion (GO:0071242)|cellular response to drug (GO:0035690)|death (GO:0016265)|dopamine transport (GO:0015872)|endocytic recycling (GO:0032456)|glucose homeostasis (GO:0042593)|insulin secretion (GO:0030073)|locomotory behavior (GO:0007626)|monoamine transport (GO:0015844)|negative regulation of neurotransmitter transport (GO:0051589)|neurotransmitter loading into synaptic vesicle (GO:0098700)|neurotransmitter secretion (GO:0007269)|post-embryonic development (GO:0009791)|response to amphetamine (GO:0001975)|response to cocaine (GO:0042220)|response to corticosterone (GO:0051412)|response to herbicide (GO:0009635)|response to starvation (GO:0042594)|response to zinc ion (GO:0010043)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	clathrin-sculpted monoamine transport vesicle membrane (GO:0070083)|dense core granule (GO:0031045)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)|synaptic vesicle membrane (GO:0030672)|terminal bouton (GO:0043195)	amine transmembrane transporter activity (GO:0005275)|drug binding (GO:0008144)|monoamine transmembrane transporter activity (GO:0008504)|serotonin transmembrane transporter activity (GO:0015222)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)	29		Colorectal(252;0.19)		all cancers(201;0.029)	Amphetamine(DB00182)|Benzphetamine(DB00865)|Deserpidine(DB01089)|Dextroamphetamine(DB01576)|Ephedra(DB01363)|Ephedrine(DB01364)|Isometheptene(DB06706)|Methamphetamine(DB01577)|Norepinephrine(DB00368)|Propylhexedrine(DB06714)|Reserpine(DB00206)|Tetrabenazine(DB04844)	TCATCAGACCGCCACACAGCA	0.507																																						ENST00000298472.5																			0				NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)	29						c.(304-306)Gcc>Acc		solute carrier family 18 (vesicular monoamine transporter), member 2	Alseroxylon(DB00386)|Reserpine(DB00206)|Tetrabenazine(DB04844)						119	103	109					10																	119003664		2203	4300	6503	SO:0001583	missense	6571				neurotransmitter secretion	clathrin sculpted monoamine transport vesicle membrane|integral to plasma membrane|membrane fraction	monoamine transmembrane transporter activity	g.chr10:119003664G>A	L14269	CCDS7599.1	10q25	2013-07-18	2013-07-18		ENSG00000165646	ENSG00000165646		"Solute carriers"	10935	protein-coding gene	gene with protein product		193001		VMAT2			Standard	NM_003054		Approved	SVMT, SVAT	uc001ldd.2	Q05940	OTTHUMG00000019121	ENST00000298472.5:c.304G>A	10.37:g.119003664G>A	ENSP00000298472:p.Ala102Thr					SLC18A2_ENST00000497497.1_3'UTR	p.A102T	NM_003054.4	NP_003045.2	Q05940	VMAT2_HUMAN		all cancers(201;0.029)	3	447	+		Colorectal(252;0.19)	102					B2RC96|D3DRC4|Q15876|Q4G147|Q5VW49|Q9H3P6	Missense_Mutation	SNP	ENST00000298472.5	37	c.304G>A	CCDS7599.1	.	.	.	.	.	.	.	.	.	.	G	0.019	-1.450505	0.01080	.	.	ENSG00000165646	ENST00000298472	T	0.03689	3.84	5.58	2.92	0.33932	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	3.673820	0.00397	N	0.000058	T	0.01523	0.0049	N	0.00841	-1.15	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.42172	-0.9467	10	0.09843	T	0.71	-21.0331	5.456	0.16590	0.618:0.1991:0.183:0.0	.	102	Q05940	VMAT2_HUMAN	T	102	ENSP00000298472:A102T	ENSP00000298472:A102T	A	+	1	0	SLC18A2	118993654	0.000000	0.05858	0.954000	0.39281	0.105000	0.19272	0.406000	0.21032	0.968000	0.38212	-0.339000	0.08088	GCC		0.507	SLC18A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050563.1	NM_003054		4	102	0	0	0	1	0	4	102					A	119003664	G	A	119003664	3	1	330	1	0	0	0	0	1	0	0	0	14426	1087	38	1	310	1	SLC18A2	10	119003664	Missense_Mutation	SNP	G	TCGA-KK-A7B3-01A-11D-A33T-08	64928863	119003664	16531083	23	16820											
OR8K5	219453	broad.mit.edu	37	chr11	55927529	55927529	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ataataggaaatagtatttcGatccacaacaaaatttgcca	18	11	5	7	1	0	0	0	0	0	0	2	2	1	1	2	1	2	1	2	1	8	6	rs147577134		TCGA-KK-A7B3-01A-11D-A33T-08	TCGA-KK-A7B3-11A-21D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22aff19c-f5e8-4648-b758-b92784cd8cdf	3b8bec14-e3b8-4447-a11a-96144843d4c1	g.chr11:55927529G>A	ENST00000313447.1	-	1	264	c.265C>T	c.(265-267)Cga>Tga	p.R89*		NM_001004058.2	NP_001004058.2	Q8NH50	OR8K5_HUMAN	olfactory receptor, family 8, subfamily K, member 5	89						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R89R(1)		large_intestine(3)|lung(24)|ovary(2)|pancreas(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	34	Esophageal squamous(21;0.00693)	Lung NSC(402;0.197)|all_epithelial(135;0.236)				ATAGTATTTCGATCCACAACA	0.393													G|||	1	0.000199681	0	0	5008	,	,		22003	0		0.001	False		,,,				2504	0					ENST00000313447.1																			1	Substitution - coding silent(1)	p.R89R(1)	lung(1)	large_intestine(3)|lung(24)|ovary(2)|pancreas(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	34						c.(265-267)Cga>Tga		olfactory receptor, family 8, subfamily K, member 5		G	stop/ARG	0,4402		0,0,2201	99	98	99		265	1.5	0.3	11	dbSNP_134	99	1,8591	1.2+/-3.3	0,1,4295	yes	stop-gained	OR8K5	NM_001004058.2		0,1,6496	AA,AG,GG		0.0116,0.0,0.0077		89/308	55927529	1,12993	2201	4296	6497	SO:0001587	stop_gained	219453				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55927529G>A	BK004347	CCDS31521.1	11q11	2012-08-09			ENSG00000181752	ENSG00000181752		"GPCR / Class A : Olfactory receptors"	15315	protein-coding gene	gene with protein product							Standard	NM_001004058		Approved		uc010rja.2	Q8NH50	OTTHUMG00000166820	ENST00000313447.1:c.265C>T	11.37:g.55927529G>A	ENSP00000323853:p.Arg89*						p.R89*	NM_001004058.2	NP_001004058.2	Q8NH50	OR8K5_HUMAN			1	264	-	Esophageal squamous(21;0.00693)	Lung NSC(402;0.197)|all_epithelial(135;0.236)	89					Q6IFB5	Nonsense_Mutation	SNP	ENST00000313447.1	37	c.265C>T	CCDS31521.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	11.03	1.520237	0.27211	0.0	1.16E-4	ENSG00000181752	ENST00000313447	.	.	.	3.88	1.55	0.23275	.	1.167630	0.06219	N	0.686504	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.27082	T	0.32	.	5.9628	0.19308	0.0:0.2834:0.3342:0.3824	.	.	.	.	X	89	.	ENSP00000323853:R89X	R	-	1	2	OR8K5	55684105	0.000000	0.05858	0.330000	0.25442	0.479000	0.33129	-0.825000	0.04433	0.837000	0.34925	0.567000	0.79289	CGA		0.393	OR8K5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391543.1	NM_001004058		29	79	0	0	0	1	0	29	79					A	55927529	G	A	55927529	4	1	330	1	0	0	0	0	0	1	0	0	11245	1066	37	2	661	2	OR8K5	11	55927529	Nonsense_Mutation	SNP	G	TCGA-KK-A7B3-01A-11D-A33T-08		55927529	79078987	24	16821											
SLC22A8	9376	broad.mit.edu	37	chr11	62767263	62767263	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgaaggctgcaccggagccGctggctgccagcagcaggta	8	5	15	13	2	0	1	0	1	0	0	0	2	0	2	3	4	5	7	3	4	2	1	rs139413909	byFrequency	TCGA-KK-A7B3-01A-11D-A33T-08	TCGA-KK-A7B3-11A-21D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22aff19c-f5e8-4648-b758-b92784cd8cdf	3b8bec14-e3b8-4447-a11a-96144843d4c1	g.chr11:62767263G>A	ENST00000336232.2	-	4	624	c.489C>T	c.(487-489)agC>agT	p.S163S	SLC22A8_ENST00000545207.1_Silent_p.S72S|SLC22A8_ENST00000430500.2_Silent_p.S163S|SLC22A8_ENST00000542795.1_5'UTR|SLC22A8_ENST00000311438.8_Silent_p.S163S|SLC22A8_ENST00000535878.1_Silent_p.S40S	NM_001184732.1|NM_001184736.1|NM_004254.3	NP_001171661.1|NP_001171665.1|NP_004245.2	Q8TCC7	S22A8_HUMAN	solute carrier family 22 (organic anion transporter), member 8	163					glutathione transport (GO:0034635)|response to methotrexate (GO:0031427)|response to toxic substance (GO:0009636)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|organic anion transmembrane transporter activity (GO:0008514)|quaternary ammonium group transmembrane transporter activity (GO:0015651)			endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	28					Aciclovir(DB00787)|Adefovir Dipivoxil(DB00718)|Allopurinol(DB00437)|Aminohippurate(DB00345)|Aspartame(DB00168)|Baclofen(DB00181)|Benzylpenicillin(DB01053)|Bumetanide(DB00887)|Cefacetrile(DB01414)|Cefadroxil(DB01140)|Cefalotin(DB00456)|Cefamandole(DB01326)|Cefazolin(DB01327)|Cefoperazone(DB01329)|Cefotaxime(DB00493)|Ceftriaxone(DB01212)|Cephalexin(DB00567)|Cilastatin(DB01597)|Cimetidine(DB00501)|Conjugated Estrogens(DB00286)|Dabrafenib(DB08912)|Diclofenac(DB00586)|Digoxin(DB00390)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Doxycycline(DB00254)|Enalapril(DB00584)|Estradiol(DB00783)|Famotidine(DB00927)|Furosemide(DB00695)|Ganciclovir(DB01004)|Guanidine(DB00536)|Ibuprofen(DB01050)|Indomethacin(DB00328)|Ketoprofen(DB01009)|L-Carnitine(DB00583)|Liothyronine(DB00279)|Liotrix(DB01583)|Melatonin(DB01065)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|Methyltestosterone(DB06710)|Minocycline(DB01017)|Novobiocin(DB01051)|Oseltamivir(DB00198)|Ouabain(DB01092)|Oxytetracycline(DB00595)|Phenylbutazone(DB00812)|Piroxicam(DB00554)|Pravastatin(DB00175)|Probenecid(DB01032)|Quinidine(DB00908)|Ranitidine(DB00863)|Salicylic acid(DB00936)|Saxagliptin(DB06335)|Succinic acid(DB00139)|Tenofovir(DB00300)|Tenoxicam(DB00469)|Testosterone(DB00624)|Tetracycline(DB00759)|Valaciclovir(DB00577)|Valproic Acid(DB00313)|Zidovudine(DB00495)	CACCGGAGCCGCTGGCTGCCA	0.622													G|||	6	0.00119808	0	0	5008	,	,		18208	0		0	False		,,,				2504	0.0061					ENST00000336232.2																			0				endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	28						c.(487-489)agC>agT		solute carrier family 22 (organic anion transporter), member 8		G	,,,	0,4402		0,0,2201	46	48	47		489,216,120,489	-10.9	0	11	dbSNP_134	47	6,8590	5.0+/-18.6	0,6,4292	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	SLC22A8	NM_001184732.1,NM_001184733.1,NM_001184736.1,NM_004254.3	,,,	0,6,6493	AA,AG,GG		0.0698,0.0,0.0462	,,,	163/543,72/452,40/420,163/543	62767263	6,12992	2201	4298	6499	SO:0001819	synonymous_variant	9376				response to toxin	basolateral plasma membrane|integral to plasma membrane|membrane fraction	inorganic anion exchanger activity|organic anion transmembrane transporter activity	g.chr11:62767263G>A	AF097491, BC022387	CCDS8042.1, CCDS53643.1, CCDS53644.1	11q12.3	2013-05-22			ENSG00000149452	ENSG00000149452		"Solute carriers"	10972	protein-coding gene	gene with protein product		607581				10049739	Standard	NM_004254		Approved	OAT3	uc001nwo.3	Q8TCC7	OTTHUMG00000167768	ENST00000336232.2:c.489C>T	11.37:g.62767263G>A						SLC22A8_ENST00000311438.8_Silent_p.S163S|SLC22A8_ENST00000542795.1_5'UTR|SLC22A8_ENST00000535878.1_Silent_p.S40S|SLC22A8_ENST00000430500.2_Silent_p.S163S|SLC22A8_ENST00000545207.1_Silent_p.S72S	p.S163S	NM_001184732.1|NM_001184736.1|NM_004254.3	NP_001171661.1|NP_001171665.1|NP_004245.2	Q8TCC7	S22A8_HUMAN			4	624	-			163					B4DPH7|F5GWA8|F5H5J1|O95820|Q59EW9|Q96TC1	Silent	SNP	ENST00000336232.2	37	c.489C>T	CCDS8042.1																																																																																				0.622	SLC22A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396191.1	NM_004254		10	47	0	0	0	1	0	10	47					A	62767263	G	A	62767263	2	1	330	1	0	0	0	0	0	0	0	1	14460	1078	38	1		1	SLC22A8	11	62767263	Silent	SNP	G	TCGA-KK-A7B3-01A-11D-A33T-08	6839734	62767263	72239253	25	16822											
PRH2	5555	broad.mit.edu	37	chr12	11083297	11083297	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagttcatagatgaggagcGtcagggaccacctttgggag	10	8	15	8	1	2	2	2	1	0	1	2	5	2	5	2	3	1	2	2	3	1	3	rs147911411	byFrequency	TCGA-KK-A7B3-01A-11D-A33T-08	TCGA-KK-A7B3-11A-21D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22aff19c-f5e8-4648-b758-b92784cd8cdf	3b8bec14-e3b8-4447-a11a-96144843d4c1	g.chr12:11083297G>A	ENST00000396400.3	+	3	175	c.137G>A	c.(136-138)cGt>cAt	p.R46H	PRR4_ENST00000536668.1_Intron|PRH2_ENST00000381847.3_Missense_Mutation_p.R46H	NM_001110213.1	NP_001103683.1	P02810	PRPC_HUMAN	proline-rich protein HaeIII subfamily 2	46	Inhibits hydroxyapatite formation, binds to hydroxyapatite and calcium.					extracellular space (GO:0005615)				breast(1)|endometrium(5)|kidney(2)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)	13						GATGAGGAGCGTCAGGGACCA	0.532																																						ENST00000396400.3																			0				breast(1)|endometrium(5)|kidney(2)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)	13						c.(136-138)cGt>cAt		proline-rich protein HaeIII subfamily 2		G	HIS/ARG,HIS/ARG	1,4405	4.2+/-10.8	0,1,2202	118	141	133		137,137	-2.5	0	12	dbSNP_134	133	13,8587	9.8+/-36.6	0,13,4287	no	missense,missense	PRH2	NM_001110213.1,NM_005042.4	29,29	0,14,6489	AA,AG,GG		0.1512,0.0227,0.1076	possibly-damaging,possibly-damaging	46/167,46/167	11083297	14,12992	2203	4300	6503	SO:0001583	missense	5555					extracellular space	protein binding	g.chr12:11083297G>A		CCDS8636.1	12p13.2	2012-10-02				ENSG00000134551			9367	protein-coding gene	gene with protein product	"parotid proline-rich protein", "acidic salivary proline-rich protein, HaeIII type, 2"	168790				3009472	Standard	NM_005042		Approved	Pr	uc001qzi.4	P02810		ENST00000396400.3:c.137G>A	12.37:g.11083297G>A	ENSP00000379682:p.Arg46His					PRR4_ENST00000536668.1_Intron|PRH2_ENST00000381847.3_Missense_Mutation_p.R46H	p.R46H	NM_001110213.1	NP_001103683.1	P02810	PRPC_HUMAN			3	175	+			46			Inhibits hydroxyapatite formation, binds to hydroxyapatite and calcium.		A2VCM0|A3KN66|A5D902|B2RMW2|Q4VBP2|Q53XA2|Q6P2F6	Missense_Mutation	SNP	ENST00000396400.3	37	c.137G>A	CCDS8636.1	.	.	.	.	.	.	.	.	.	.	G	5.753	0.323405	0.10900	2.27E-4	0.001512	ENSG00000134551	ENST00000381847;ENST00000396400	T;T	0.15487	2.42;2.42	1.24	-2.47	0.06442	.	9.050640	0.00919	N	0.002560	T	0.06826	0.0174	N	0.04203	-0.255	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.16217	-1.0410	10	0.26408	T	0.33	.	0.4517	0.00502	0.2419:0.3166:0.2472:0.1943	.	46	P02810	PRPC_HUMAN	H	46	ENSP00000371271:R46H;ENSP00000379682:R46H	ENSP00000371271:R46H	R	+	2	0	PRH2	10974564	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-3.086000	0.00611	-0.949000	0.03663	-1.961000	0.00478	CGT		0.532	PRH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400231.1	NM_001110213		20	122	0	0	0	1	0	20	122					A	11083297	G	A	11083297	3	1	330	1	0	0	0	0	1	0	0	0	12483	1145	40	1	147	1	PRH2	12	11083297	Missense_Mutation	SNP	G	TCGA-KK-A7B3-01A-11D-A33T-08		11083297	122768598	26	16823											
KL	9365	broad.mit.edu	37	chr13	33635172	33635172	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggactgccgcgcctcctggcCaggcagggcgcctgggagaa	6	4	17	14	3	0	1	0	0	0	1	1	3	1	2	5	5	1	1	5	5	1	0			TCGA-KK-A7B3-01A-11D-A33T-08	TCGA-KK-A7B3-11A-21D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22aff19c-f5e8-4648-b758-b92784cd8cdf	3b8bec14-e3b8-4447-a11a-96144843d4c1	g.chr13:33635172C>A	ENST00000380099.3	+	4	1964	c.1956C>A	c.(1954-1956)gcC>gcA	p.A652A	KL_ENST00000426690.2_3'UTR|KL_ENST00000487852.1_3'UTR	NM_004795.3	NP_004786.2	Q9UEF7	KLOT_HUMAN	klotho	652	Glycosyl hydrolase-1 2.				acute inflammatory response (GO:0002526)|aging (GO:0007568)|calcium ion homeostasis (GO:0055074)|carbohydrate metabolic process (GO:0005975)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of bone mineralization (GO:0030501)|positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway (GO:0090080)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	beta-glucosidase activity (GO:0008422)|beta-glucuronidase activity (GO:0004566)|fibroblast growth factor binding (GO:0017134)|signal transducer activity (GO:0004871)|vitamin D binding (GO:0005499)			breast(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|skin(5)	41	all_epithelial(80;0.133)	Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;7.13e-230)|all cancers(112;1.33e-165)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-113)|Epithelial(112;3.79e-112)|Lung(94;8.52e-27)|LUSC - Lung squamous cell carcinoma(192;1.4e-13)|Kidney(163;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(186;5.63e-08)|BRCA - Breast invasive adenocarcinoma(63;1.41e-05)		GCCTCCTGGCCAGGCAGGGCG	0.622																																						ENST00000380099.3																			0				breast(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|skin(5)	41						c.(1954-1956)gcC>gcA		klotho							49	48	48					13																	33635172		2203	4300	6503	SO:0001819	synonymous_variant	9365				aging|carbohydrate metabolic process|insulin receptor signaling pathway|positive regulation of bone mineralization	extracellular space|integral to membrane|integral to plasma membrane|membrane fraction|soluble fraction	beta-glucosidase activity|beta-glucuronidase activity|cation binding|fibroblast growth factor binding|hormone activity|signal transducer activity|vitamin D binding	g.chr13:33635172C>A	AB005142	CCDS9347.1	13q12	2008-02-05			ENSG00000133116	ENSG00000133116			6344	protein-coding gene	gene with protein product		604824				9464267	Standard	NM_004795		Approved		uc001uus.3	Q9UEF7	OTTHUMG00000017408	ENST00000380099.3:c.1956C>A	13.37:g.33635172C>A						KL_ENST00000426690.2_3'UTR|KL_ENST00000487852.1_3'UTR	p.A652A	NM_004795.3	NP_004786.2	Q9UEF7	KLOT_HUMAN		GBM - Glioblastoma multiforme(144;7.13e-230)|all cancers(112;1.33e-165)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-113)|Epithelial(112;3.79e-112)|Lung(94;8.52e-27)|LUSC - Lung squamous cell carcinoma(192;1.4e-13)|Kidney(163;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(186;5.63e-08)|BRCA - Breast invasive adenocarcinoma(63;1.41e-05)	4	1964	+	all_epithelial(80;0.133)	Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262)	652			Glycosyl hydrolase-1 2.		Q5VZ95|Q96KV5|Q96KW5|Q9UEI9|Q9Y4F0	Silent	SNP	ENST00000380099.3	37	c.1956C>A	CCDS9347.1																																																																																				0.622	KL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045987.1			10	48	1	0	2.17888e-05	1	2.26603e-05	10	48					A	33635172	C	A	33635172	2	1	330	1	0	0	0	0	0	0	0	1	8331	581	21	5		5	KL	13	33635172	Silent	SNP	C	TCGA-KK-A7B3-01A-11D-A33T-08		33635172	81534706	27	16824											
ZNF828	283489	broad.mit.edu	37	chr13	115089515	115089515	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aagttatttcactgccataaAtgcttcttcaccagcaagat	13	13	5	10	0	3	1	2	0	1	1	3	1	3	1	2	0	3	3	2	0	5	5			TCGA-KK-A7B3-01A-11D-A33T-08	TCGA-KK-A7B3-11A-21D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22aff19c-f5e8-4648-b758-b92784cd8cdf	3b8bec14-e3b8-4447-a11a-96144843d4c1	g.chr13:115089515A>T	ENST00000361283.1	+	3	507	c.198A>T	c.(196-198)aaA>aaT	p.K66N		NM_001164144.1|NM_001164145.1|NM_032436.2	NP_001157616.1|NP_001157617.1|NP_115812.1	Q96JM3	CHAP1_HUMAN	chromosome alignment maintaining phosphoprotein 1	66					attachment of spindle microtubules to kinetochore involved in mitotic sister chromatid segregation (GO:0051315)|protein localization to kinetochore (GO:0034501)|protein localization to microtubule (GO:0035372)|sister chromatid biorientation (GO:0031134)	condensed chromosome (GO:0000793)|condensed chromosome kinetochore (GO:0000777)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|spindle (GO:0005819)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)										ACTGCCATAAATGCTTCTTCA	0.378																																						ENST00000361283.1																			0											c.(196-198)aaA>aaT		chromosome alignment maintaining phosphoprotein 1							92	86	88					13																	115089515		2203	4300	6503	SO:0001583	missense	283489				attachment of spindle microtubules to kinetochore involved in mitotic sister chromatid segregation|protein localization to kinetochore|protein localization to microtubule|sister chromatid biorientation	condensed chromosome kinetochore|cytoplasm|nucleus|spindle	nucleic acid binding|protein binding|zinc ion binding	g.chr13:115089515A>T	AK074894	CCDS9545.1	13q34	2013-01-07	2011-10-07	2011-10-07	ENSG00000198824	ENSG00000198824		"Zinc fingers, C2H2-type"	20311	protein-coding gene	gene with protein product	"chromosome alignment-maintaining phosphoprotein"		"chromosome 13 open reading frame 8", "zinc finger protein 828"	C13orf8, ZNF828		21063390	Standard	NM_032436		Approved	CAMP, CHAMP	uc010ahb.3	Q96JM3	OTTHUMG00000017404	ENST00000361283.1:c.198A>T	13.37:g.115089515A>T	ENSP00000354730:p.Lys66Asn						p.K66N	NM_001164144.1|NM_001164145.1|NM_032436.2	NP_001157616.1|NP_001157617.1|NP_115812.1	Q96JM3	ZN828_HUMAN			3	507	+			66					B3KU06|Q6P181|Q8NC88|Q9BST0	Missense_Mutation	SNP	ENST00000361283.1	37	c.198A>T	CCDS9545.1	.	.	.	.	.	.	.	.	.	.	A	21.5	4.160234	0.78226	.	.	ENSG00000198824	ENST00000361283	T	0.01464	4.86	5.96	0.286	0.15710	Zinc finger, C2H2-like (1);	0.000000	0.64402	D	0.000011	T	0.04048	0.0113	L	0.32530	0.975	0.35578	D	0.806014	D	0.89917	1.0	D	0.76575	0.988	T	0.49072	-0.8977	9	.	.	.	-12.9859	9.2279	0.37418	0.6339:0.0:0.3661:0.0	.	66	Q96JM3	ZN828_HUMAN	N	66	ENSP00000354730:K66N	.	K	+	3	2	ZNF828	114107617	0.999000	0.42202	0.997000	0.53966	0.998000	0.95712	0.528000	0.23002	-0.164000	0.10927	0.533000	0.62120	AAA		0.378	CHAMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045977.2	NM_032436		12	21	0	0	0	1	0	12	21					T	115089515	A	T	115089515	3	4	330	1	0	0	0	0	1	0	0	0	18178	98	4	5	200	5	ZNF828	13	115089515	Missense_Mutation	SNP	A	TCGA-KK-A7B3-01A-11D-A33T-08	81454343	115089515	80363	28	16825											
SYNE2	23224	broad.mit.edu	37	chr14	64676752	64676752	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgggagaaccgcacagacacGgccagcaggctgaagcagat	13	2	14	12	3	0	4	0	1	0	3	0	5	0	4	2	3	3	4	2	3	2	0			TCGA-KK-A7B3-01A-11D-A33T-08	TCGA-KK-A7B3-11A-21D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22aff19c-f5e8-4648-b758-b92784cd8cdf	3b8bec14-e3b8-4447-a11a-96144843d4c1	g.chr14:64676752G>A	ENST00000344113.4	+	103	18845	c.18633G>A	c.(18631-18633)acG>acA	p.T6211T	SYNE2_ENST00000554805.1_5'UTR|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000555002.1_Silent_p.T2845T|SYNE2_ENST00000358025.3_Silent_p.T6211T|SYNE2_ENST00000357395.3_Silent_p.T2596T|SYNE2_ENST00000394768.2_Silent_p.T2596T|SYNE2_ENST00000555022.1_Silent_p.T89T|SYNE2_ENST00000554584.1_Silent_p.T6170T	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	6211			T -> M (in EDMD5; dbSNP:rs36215895). {ECO:0000269|PubMed:17761684}.		centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		GCACAGACACGGCCAGCAGGC	0.632																																						ENST00000357395.3																			0				NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224						c.(7786-7788)acG>acA		spectrin repeat containing, nuclear envelope 2							45	45	45					14																	64676752		2203	4300	6503	SO:0001819	synonymous_variant	23224				centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding	g.chr14:64676752G>A	AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"nuclear envelope spectrin repeat-2", "nucleus and actin connecting element"	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.18633G>A	14.37:g.64676752G>A						SYNE2_ENST00000394768.2_Silent_p.T2596T|SYNE2_ENST00000358025.3_Silent_p.T6211T|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000554584.1_Silent_p.T6170T|SYNE2_ENST00000555002.1_Silent_p.T2845T|SYNE2_ENST00000554805.1_5'UTR|SYNE2_ENST00000555022.1_Silent_p.T89T|SYNE2_ENST00000344113.4_Silent_p.T6211T	p.T2596T			Q8WXH0	SYNE2_HUMAN		all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)	104	18932	+			6211					Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Silent	SNP	ENST00000344113.4	37	c.7788G>A	CCDS41963.1																																																																																				0.632	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276994.2	NM_182914		8	49	0	0	0	1	0	8	49					A	64676752	G	A	64676752	2	1	330	1	0	0	0	0	0	0	0	1	15443	1103	39	2		2	SYNE2	14	64676752	Silent	SNP	G	TCGA-KK-A7B3-01A-11D-A33T-08		64676752	42672788	29	16826											
TP53BP1	7158	broad.mit.edu	37	chr15	43738617	43738617	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actgcaaagactcttcactcGcctcagtctcaggactaacc	11	9	6	15	1	4	1	3	0	2	1	6	2	4	2	2	1	2	1	2	1	2	2			TCGA-KK-A7B3-01A-11D-A33T-08	TCGA-KK-A7B3-11A-21D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22aff19c-f5e8-4648-b758-b92784cd8cdf	3b8bec14-e3b8-4447-a11a-96144843d4c1	g.chr15:43738617G>A	ENST00000263801.3	-	14	3245	c.2993C>T	c.(2992-2994)gCg>gTg	p.A998V	TP53BP1_ENST00000382039.3_Missense_Mutation_p.A1003V|TP53BP1_ENST00000450115.2_Missense_Mutation_p.A1003V|TP53BP1_ENST00000605155.1_5'Flank|TP53BP1_ENST00000382044.4_Missense_Mutation_p.A1003V	NM_005657.2	NP_005648.1	Q12888	TP53B_HUMAN	tumor protein p53 binding protein 1	998					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|replication fork (GO:0005657)	damaged DNA binding (GO:0003684)|methylated histone binding (GO:0035064)|p53 binding (GO:0002039)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II transcription cofactor activity (GO:0001104)|telomeric DNA binding (GO:0042162)			breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3)	72		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;1.59e-06)		CTCTTCACTCGCCTCAGTCTC	0.418								Other conserved DNA damage response genes																														ENST00000263801.3																			0				breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3)	72						c.(2992-2994)gCg>gTg	Other conserved DNA damage response genes	tumor protein p53 binding protein 1							94	92	93					15																	43738617		2201	4298	6499	SO:0001583	missense	7158				double-strand break repair via homologous recombination|positive regulation of transcription from RNA polymerase II promoter	condensed chromosome kinetochore|cytoplasm|nucleoplasm	p53 binding|RNA polymerase II activating transcription factor binding|RNA polymerase II transcription cofactor activity	g.chr15:43738617G>A	U09477	CCDS10096.1, CCDS45250.1, CCDS45251.1	15q15-q21	2007-08-02	2007-08-02		ENSG00000067369	ENSG00000067369			11999	protein-coding gene	gene with protein product		605230	"tumor protein p53-binding protein, 1"			8016121, 9748285	Standard	NM_005657		Approved	53BP1, p202	uc001zrr.4	Q12888	OTTHUMG00000059757	ENST00000263801.3:c.2993C>T	15.37:g.43738617G>A	ENSP00000263801:p.Ala998Val					TP53BP1_ENST00000450115.2_Missense_Mutation_p.A1003V|TP53BP1_ENST00000382039.3_Missense_Mutation_p.A1003V|TP53BP1_ENST00000382044.4_Missense_Mutation_p.A1003V	p.A998V	NM_005657.2	NP_005648.1	Q12888	TP53B_HUMAN		GBM - Glioblastoma multiforme(94;1.59e-06)	14	3245	-		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)	998					F8VY86|Q2M1Z7|Q4LE46|Q5FWZ3|Q7Z3U4	Missense_Mutation	SNP	ENST00000263801.3	37	c.2993C>T	CCDS10096.1	.	.	.	.	.	.	.	.	.	.	G	13.52	2.262731	0.39995	.	.	ENSG00000067369	ENST00000263801;ENST00000382044;ENST00000382039;ENST00000450115;ENST00000413546	T;T;T;T;T	0.10860	3.66;3.66;3.65;3.65;2.83	5.44	4.51	0.55191	.	0.498356	0.20359	N	0.093889	T	0.10508	0.0257	L	0.53249	1.67	0.24052	N	0.996043	P;P;P;P	0.46859	0.885;0.571;0.697;0.697	B;B;B;B	0.38156	0.266;0.065;0.137;0.137	T	0.20472	-1.0274	10	0.30854	T	0.27	-0.3057	9.8465	0.41030	0.0:0.2994:0.5624:0.1382	.	1003;998;1003;1003	B7Z3E7;Q12888;Q12888-2;F8VY86	.;TP53B_HUMAN;.;.	V	998;1003;1003;1003;963	ENSP00000263801:A998V;ENSP00000371475:A1003V;ENSP00000371470:A1003V;ENSP00000393497:A1003V;ENSP00000388028:A963V	ENSP00000263801:A998V	A	-	2	0	TP53BP1	41525909	0.899000	0.30636	0.913000	0.36048	0.997000	0.91878	1.747000	0.38298	1.382000	0.46385	0.655000	0.94253	GCG		0.418	TP53BP1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000132897.3			34	34	0	0	0	1	0	34	34					A	43738617	G	A	43738617	3	1	330	1	0	0	0	0	1	0	0	0	16380	1087	38	1	2985	1	TP53BP1	15	43738617	Missense_Mutation	SNP	G	TCGA-KK-A7B3-01A-11D-A33T-08		43738617	58792775	30	16827											
PDZD9	255762	broad.mit.edu	37	chr16	21995951	21995951	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcactgcttgtgaaagattcAtcttttgccagctcaatttt	9	17	6	9	0	4	2	3	1	1	1	4	2	4	2	1	0	3	2	1	0	2	6			TCGA-KK-A7B3-01A-11D-A33T-08	TCGA-KK-A7B3-11A-21D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22aff19c-f5e8-4648-b758-b92784cd8cdf	3b8bec14-e3b8-4447-a11a-96144843d4c1	g.chr16:21995951A>T	ENST00000424898.2	-	4	494	c.432T>A	c.(430-432)gaT>gaA	p.D144E	PDZD9_ENST00000286143.6_Missense_Mutation_p.D82E|PDZD9_ENST00000537222.2_Missense_Mutation_p.D84E			Q8IXQ8	PDZD9_HUMAN	PDZ domain containing 9	144										breast(3)|endometrium(2)|lung(3)|pancreas(1)	9						TGAAAGATTCATCTTTTGCCA	0.338																																						ENST00000286143.6																			0				breast(3)|endometrium(2)|lung(3)|pancreas(1)	9						c.(244-246)gaT>gaA		PDZ domain containing 9							49	51	50					16																	21995951		2198	4299	6497	SO:0001583	missense	255762							g.chr16:21995951A>T	BC039562	CCDS10602.1, CCDS10602.2	16p12.1	2010-04-14	2010-04-14	2010-04-14	ENSG00000155714	ENSG00000155714			28740	protein-coding gene	gene with protein product			"chromosome 16 open reading frame 65"	C16orf65		12477932	Standard	NM_173806		Approved	MGC50721	uc021ter.1	Q8IXQ8	OTTHUMG00000131586	ENST00000424898.2:c.432T>A	16.37:g.21995951A>T	ENSP00000400514:p.Asp144Glu					PDZD9_ENST00000424898.2_Missense_Mutation_p.D144E|PDZD9_ENST00000537222.2_Missense_Mutation_p.D84E	p.D82E			Q8IXQ8	PDZD9_HUMAN			5	567	-			144			PDZ.		F5GWW8	Missense_Mutation	SNP	ENST00000424898.2	37	c.246T>A		.	.	.	.	.	.	.	.	.	.	A	6.184	0.402074	0.11696	.	.	ENSG00000155714	ENST00000424898;ENST00000537222;ENST00000286143;ENST00000521513	T	0.43294	0.95	4.73	-2.7	0.06004	.	0.775537	0.11884	N	0.520185	T	0.16727	0.0402	N	0.20401	0.57	0.09310	N	1	B	0.11235	0.004	B	0.08055	0.003	T	0.27706	-1.0066	10	0.06757	T	0.87	-3.1613	1.0849	0.01650	0.3537:0.1639:0.3228:0.1596	.	82	Q8IXQ8-2	.	E	144;84;82;84	ENSP00000400514:D144E	ENSP00000286143:D82E	D	-	3	2	PDZD9	21903452	0.000000	0.05858	0.001000	0.08648	0.500000	0.33767	-1.522000	0.02237	-0.451000	0.07097	0.460000	0.39030	GAT		0.338	PDZD9-003	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000381652.1	NM_173806		7	36	0	0	0	1	0	7	36					T	21995951	A	T	21995951	3	4	330	1	0	0	0	0	1	0	0	0	11706	214	8	5	366	5	PDZD9	16	21995951	Missense_Mutation	SNP	A	TCGA-KK-A7B3-01A-11D-A33T-08		21995951	68358802	31	16828											
DEF8	54849	broad.mit.edu	37	chr16	90027430	90027430	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	caccaagctgaatacgaactGaacatctgccctgagacagg	14	6	9	12	1	1	3	0	3	1	1	1	5	1	3	2	1	5	1	2	1	5	1			TCGA-KK-A7B3-01A-11D-A33T-08	TCGA-KK-A7B3-11A-21D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22aff19c-f5e8-4648-b758-b92784cd8cdf	3b8bec14-e3b8-4447-a11a-96144843d4c1	g.chr16:90027430G>C	ENST00000268676.7	+	7	878	c.789G>C	c.(787-789)ctG>ctC	p.L263L	DEF8_ENST00000567874.1_Silent_p.L142L|DEF8_ENST00000563795.1_Silent_p.L202L|DEF8_ENST00000563594.1_Silent_p.L202L|DEF8_ENST00000563848.1_3'UTR|DEF8_ENST00000570182.1_Silent_p.L192L|DEF8_ENST00000569453.1_Silent_p.L202L	NM_207514.2	NP_997397.1	Q6ZN54	DEFI8_HUMAN	differentially expressed in FDCP 8 homolog (mouse)	263					intracellular signal transduction (GO:0035556)		zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	12		all_cancers(9;7.59e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.0019)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0274)		AATACGAACTGAACATCTGCC	0.577																																						ENST00000563594.1																			0				central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	12						c.(604-606)ctG>ctC		differentially expressed in FDCP 8 homolog (mouse)							136	125	129					16																	90027430		2198	4300	6498	SO:0001819	synonymous_variant	54849				intracellular signal transduction		zinc ion binding	g.chr16:90027430G>C	AK131370	CCDS10989.1, CCDS45555.1, CCDS58493.1, CCDS58494.1, CCDS58495.1, CCDS58496.1	16q24.3	2011-01-31			ENSG00000140995	ENSG00000140995			25969	protein-coding gene	gene with protein product						12477932	Standard	NM_207514		Approved	FLJ20186	uc002fpn.2	Q6ZN54	OTTHUMG00000138989	ENST00000268676.7:c.789G>C	16.37:g.90027430G>C						DEF8_ENST00000563848.1_3'UTR|DEF8_ENST00000570182.1_Silent_p.L192L|DEF8_ENST00000569453.1_Silent_p.L202L|DEF8_ENST00000567874.1_Silent_p.L142L|DEF8_ENST00000563795.1_Silent_p.L202L|DEF8_ENST00000268676.7_Silent_p.L263L	p.L202L	NM_001242818.1|NM_001242819.1	NP_001229747.1|NP_001229748.1	Q6ZN54	DEFI8_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0274)	7	1603	+		all_cancers(9;7.59e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.0019)|all_hematologic(23;0.0194)	263					B3KT65|B4DK62|B4E0S9|B7Z3H6|H3BUG7|Q8N8N3|Q9NXL0	Silent	SNP	ENST00000268676.7	37	c.606G>C	CCDS10989.1																																																																																				0.577	DEF8-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000272878.1	NM_207514		43	104	0	0	0	1	0	43	104					C	90027430	G	C	90027430	2	2	330	1	0	0	0	0	0	0	0	1	4387	1277	45	5		5	DEF8	16	90027430	Silent	SNP	G	TCGA-KK-A7B3-01A-11D-A33T-08	68031479	90027430	327323	32	16829											
C17orf85	55421	broad.mit.edu	37	chr17	3716470	3716470	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agagccccccatgccctttgCagctcagagtcgtcttcctc	6	10	8	17	1	2	2	1	0	1	2	5	2	3	2	5	0	4	2	5	0	0	2	rs374025988		TCGA-KK-A7B3-01A-11D-A33T-08	TCGA-KK-A7B3-11A-21D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22aff19c-f5e8-4648-b758-b92784cd8cdf	3b8bec14-e3b8-4447-a11a-96144843d4c1	g.chr17:3716470C>T	ENST00000389005.4	-	13	1758	c.1731G>A	c.(1729-1731)ctG>ctA	p.L577L	C17orf85_ENST00000158149.3_Silent_p.L297L	NM_001114118.2	NP_001107590.1	Q53F19	CQ085_HUMAN	chromosome 17 open reading frame 85	577							nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			endometrium(2)|large_intestine(2)|lung(4)|skin(1)|urinary_tract(1)	10				UCEC - Uterine corpus endometrioid carcinoma (3;0.0725)		ATGCCCTTTGCAGCTCAGAGT	0.502																																						ENST00000158149.3																			0				endometrium(2)|large_intestine(2)|lung(4)|skin(1)|urinary_tract(1)	10						c.(889-891)ctG>ctA		chromosome 17 open reading frame 85							145	144	144					17																	3716470		2203	4300	6503	SO:0001819	synonymous_variant	55421						nucleotide binding	g.chr17:3716470C>T		CCDS45578.1	17p13.2	2012-10-23			ENSG00000074356	ENSG00000074356			24612	protein-coding gene	gene with protein product	"ELG protein"					11412301	Standard	NM_001114118		Approved	HSA277841, ELG	uc010ckl.2	Q53F19	OTTHUMG00000177672	ENST00000389005.4:c.1731G>A	17.37:g.3716470C>T						C17orf85_ENST00000389005.4_Silent_p.L577L	p.L297L			Q53F19	CQ085_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (3;0.0725)	14	1786	-			577					B3KWG7|Q7L406|Q96FK1|Q9NXZ4	Silent	SNP	ENST00000389005.4	37	c.891G>A	CCDS45578.1																																																																																				0.502	C17orf85-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438385.1	NM_018553		4	126	0	0	0	1	0	4	126					T	3716470	C	T	3716470	2	4	330	1	0	0	0	0	0	0	0	1	1888	697	25	3		3	C17orf85	17	3716470	Silent	SNP	C	TCGA-KK-A7B3-01A-11D-A33T-08		3716470	77478740	33	16830											
TMEM132E	124842	broad.mit.edu	37	chr17	32961959	32961959	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	acatcatccgagggcactgaCcaggtggtcaccatgttagg	10	8	12	11	1	2	1	2	1	0	0	3	2	3	1	3	4	0	2	3	4	1	1			TCGA-KK-A7B3-01A-11D-A33T-08	TCGA-KK-A7B3-11A-21D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22aff19c-f5e8-4648-b758-b92784cd8cdf	3b8bec14-e3b8-4447-a11a-96144843d4c1	g.chr17:32961959C>G	ENST00000321639.5	+	8	1888	c.1560C>G	c.(1558-1560)gaC>gaG	p.D520E		NM_207313.1	NP_997196.1	Q6IEE7	T132E_HUMAN	transmembrane protein 132E	520						integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(28)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	57				BRCA - Breast invasive adenocarcinoma(366;0.231)		AGGGCACTGACCAGGTGGTCA	0.632																																						ENST00000321639.5																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(28)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	57						c.(1558-1560)gaC>gaG		transmembrane protein 132E							111	86	95					17																	32961959		2203	4300	6503	SO:0001583	missense	124842					integral to membrane		g.chr17:32961959C>G	BN000149	CCDS11283.1	17q12	2012-11-01			ENSG00000181291	ENSG00000181291			26991	protein-coding gene	gene with protein product							Standard	NM_207313		Approved		uc002hif.3	Q6IEE7	OTTHUMG00000132927	ENST00000321639.5:c.1560C>G	17.37:g.32961959C>G	ENSP00000316532:p.Asp520Glu						p.D520E	NM_207313.1	NP_997196.1	Q6IEE7	T132E_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.231)	8	1888	+			520					Q8WUF4|Q8WVA5	Missense_Mutation	SNP	ENST00000321639.5	37	c.1560C>G	CCDS11283.1	.	.	.	.	.	.	.	.	.	.	C	14.68	2.606309	0.46527	.	.	ENSG00000181291	ENST00000321639	T	0.17370	2.28	5.22	3.17	0.36434	.	0.343758	0.33772	N	0.004566	T	0.10937	0.0267	L	0.29908	0.895	0.47994	D	0.99956	B	0.06786	0.001	B	0.12156	0.007	T	0.12066	-1.0562	10	0.27785	T	0.31	-33.5046	6.9866	0.24731	0.1285:0.6748:0.1246:0.0722	.	520	Q6IEE7	T132E_HUMAN	E	520	ENSP00000316532:D520E	ENSP00000316532:D520E	D	+	3	2	TMEM132E	29986072	0.837000	0.29446	1.000000	0.80357	0.972000	0.66771	0.271000	0.18626	1.415000	0.47037	0.498000	0.49722	GAC		0.632	TMEM132E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256440.2	NM_207313		15	47	0	0	0	1	0	15	47					G	32961959	C	G	32961959	3	3	330	1	0	0	0	0	1	0	0	0	16045	506	18	5	1590	5	TMEM132E	17	32961959	Missense_Mutation	SNP	C	TCGA-KK-A7B3-01A-11D-A33T-08	29245489	32961959	48233251	34	16831											
MPO	4353	broad.mit.edu	37	chr17	56348167	56348167	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgatccggggcaatgagatCtgggccagggcctgtcgctg	7	8	16	10	2	1	2	0	2	1	1	3	3	2	2	3	4	0	2	3	4	1	0			TCGA-KK-A7B3-01A-11D-A33T-08	TCGA-KK-A7B3-11A-21D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22aff19c-f5e8-4648-b758-b92784cd8cdf	3b8bec14-e3b8-4447-a11a-96144843d4c1	g.chr17:56348167C>A	ENST00000225275.3	-	12	2264	c.2088G>T	c.(2086-2088)caG>caT	p.Q696H	MPO_ENST00000340482.3_Missense_Mutation_p.Q728H	NM_000250.1	NP_000241.1	P05164	PERM_HUMAN	myeloperoxidase	696					aging (GO:0007568)|defense response (GO:0006952)|defense response to fungus (GO:0050832)|hydrogen peroxide catabolic process (GO:0042744)|hypochlorous acid biosynthetic process (GO:0002149)|low-density lipoprotein particle remodeling (GO:0034374)|negative regulation of apoptotic process (GO:0043066)|negative regulation of growth of symbiont in host (GO:0044130)|oxidation-reduction process (GO:0055114)|removal of superoxide radicals (GO:0019430)|respiratory burst involved in defense response (GO:0002679)|response to food (GO:0032094)|response to lipopolysaccharide (GO:0032496)|response to mechanical stimulus (GO:0009612)|response to oxidative stress (GO:0006979)|response to yeast (GO:0001878)	azurophil granule (GO:0042582)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|secretory granule (GO:0030141)	chromatin binding (GO:0003682)|heme binding (GO:0020037)|heparin binding (GO:0008201)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(13)|ovary(2)|pancreas(1)|skin(4)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	46					Aminosalicylic Acid(DB00233)|Bivalirudin(DB00006)|Calcipotriol(DB02300)|Carboplatin(DB00958)|Cefaclor(DB00833)|Cefdinir(DB00535)|Cisplatin(DB00515)|Cysteamine(DB00847)|Dapsone(DB00250)|Enoxaparin(DB01225)|Human Serum Albumin(DB00062)|L-Carnitine(DB00583)|Melatonin(DB01065)|Mesalazine(DB00244)|Nabumetone(DB00461)|Octreotide(DB00104)|Oxaliplatin(DB00526)|Propylthiouracil(DB00550)|Ticlopidine(DB00208)|Tolmetin(DB00500)	GCAATGAGATCTGGGCCAGGG	0.537																																						ENST00000340482.3																			0				breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(13)|ovary(2)|pancreas(1)|skin(4)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	46						c.(2182-2184)caG>caT		myeloperoxidase	Cefdinir(DB00535)						233	180	198					17																	56348167		2203	4300	6503	SO:0001583	missense	4353				anti-apoptosis|hydrogen peroxide catabolic process|low-density lipoprotein particle remodeling	extracellular space|lysosome|nucleus|stored secretory granule	chromatin binding|heme binding|heparin binding|peroxidase activity	g.chr17:56348167C>A		CCDS11604.1	17q21.3-q23	2014-09-17				ENSG00000005381	1.11.1.7		7218	protein-coding gene	gene with protein product		606989					Standard	NM_000250		Approved		uc002ivu.1	P05164		ENST00000225275.3:c.2088G>T	17.37:g.56348167C>A	ENSP00000225275:p.Gln696His					MPO_ENST00000225275.3_Missense_Mutation_p.Q696H	p.Q728H			P05164	PERM_HUMAN			11	2360	-			696					A1L4B8|Q14862|Q4PJH5|Q9UCL7	Missense_Mutation	SNP	ENST00000225275.3	37	c.2184G>T	CCDS11604.1	.	.	.	.	.	.	.	.	.	.	C	10.52	1.373270	0.24857	.	.	ENSG00000005381	ENST00000340482;ENST00000225275	T;T	0.73258	-0.73;-0.73	5.76	-0.713	0.11223	.	1.687060	0.02660	N	0.107367	T	0.59676	0.2211	L	0.43152	1.355	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.43750	-0.9372	10	0.62326	D	0.03	-4.3899	0.8487	0.01167	0.2487:0.3163:0.232:0.203	.	696	P05164	PERM_HUMAN	H	728;696	ENSP00000344419:Q728H;ENSP00000225275:Q696H	ENSP00000225275:Q696H	Q	-	3	2	MPO	53703166	0.000000	0.05858	0.212000	0.23672	0.768000	0.43524	-1.142000	0.03203	0.047000	0.15862	-0.176000	0.13171	CAG		0.537	MPO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443971.1			14	44	1	0	3.41278e-10	1	3.69718e-10	14	44					A	56348167	C	A	56348167	3	1	330	1	0	0	0	0	1	0	0	0	9732	912	32	5	153	5	MPO	17	56348167	Missense_Mutation	SNP	C	TCGA-KK-A7B3-01A-11D-A33T-08	23386208	56348167	24847043	35	16832											
MTMR4	9110	broad.mit.edu	37	chr17	56582844	56582844	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aacacctacttgctaggatcCggcatctggctacacacagc	11	8	8	14	1	1	0	0	0	1	0	2	1	2	1	2	3	5	3	2	3	4	4			TCGA-KK-A7B3-01A-11D-A33T-08	TCGA-KK-A7B3-11A-21D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22aff19c-f5e8-4648-b758-b92784cd8cdf	3b8bec14-e3b8-4447-a11a-96144843d4c1	g.chr17:56582844C>T	ENST00000323456.5	-	11	1216	c.1092G>A	c.(1090-1092)ccG>ccA	p.P364P	MTMR4_ENST00000579925.1_Silent_p.P364P	NM_004687.4	NP_004678.3	Q9NYA4	MTMR4_HUMAN	myotubularin related protein 4	364	Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}.				negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|protein dephosphorylation (GO:0006470)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|small molecule metabolic process (GO:0044281)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytosol (GO:0005829)|early endosome membrane (GO:0031901)|extracellular space (GO:0005615)	metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)			breast(10)|endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|skin(5)	36	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TGCTAGGATCCGGCATCTGGC	0.493																																						ENST00000323456.5																			0				breast(10)|endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|skin(5)	36						c.(1090-1092)ccG>ccA		myotubularin related protein 4							111	95	101					17																	56582844		2203	4300	6503	SO:0001819	synonymous_variant	9110					cytoplasm|membrane	metal ion binding|protein tyrosine phosphatase activity	g.chr17:56582844C>T	AB014547	CCDS11608.1	17q22-q23	2011-06-09				ENSG00000108389		"Zinc fingers, FYVE domain containing", "Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"	7452	protein-coding gene	gene with protein product		603559				9736772	Standard	NM_004687		Approved	KIAA0647, ZFYVE11	uc002iwj.2	Q9NYA4		ENST00000323456.5:c.1092G>A	17.37:g.56582844C>T						MTMR4_ENST00000579925.1_Silent_p.P364P	p.P364P	NM_004687.4	NP_004678.3	Q9NYA4	MTMR4_HUMAN			11	1216	-	Medulloblastoma(34;0.127)|all_neural(34;0.237)		364			Myotubularin phosphatase.		D3DTZ6|Q8IV27|Q9Y4D5	Silent	SNP	ENST00000323456.5	37	c.1092G>A	CCDS11608.1																																																																																				0.493	MTMR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444721.1	NM_004687		22	34	0	0	0	1	0	22	34					T	56582844	C	T	56582844	2	4	330	1	0	0	0	0	0	0	0	1	9946	639	23	2		2	MTMR4	17	56582844	Silent	SNP	C	TCGA-KK-A7B3-01A-11D-A33T-08	234677	56582844	24612366	36	16833											
MBD1	4152	broad.mit.edu	37	chr18	47806261	47806262	+	Frame_Shift_Del	DEL	AT	AT	-																															cccacccagtacctctggtaAtaggtgtctgagcgtccaca																										TCGA-KK-A7B3-01A-11D-A33T-08	TCGA-KK-A7B3-11A-21D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22aff19c-f5e8-4648-b758-b92784cd8cdf	3b8bec14-e3b8-4447-a11a-96144843d4c1	g.chr18:47806261_47806262delAT	ENST00000591416.1	-	2	532_533	c.101_102delAT	c.(100-102)tatfs	p.Y35fs	MBD1_ENST00000398493.1_Frame_Shift_Del_p.Y35fs|MBD1_ENST00000349085.2_Frame_Shift_Del_p.Y35fs|MBD1_ENST00000353909.3_Frame_Shift_Del_p.Y35fs|MBD1_ENST00000339998.6_Frame_Shift_Del_p.Y35fs|MBD1_ENST00000591535.1_Frame_Shift_Del_p.Y35fs|MBD1_ENST00000269471.5_Frame_Shift_Del_p.Y35fs|MBD1_ENST00000585672.1_Frame_Shift_Del_p.Y35fs|MBD1_ENST00000457839.2_Frame_Shift_Del_p.Y35fs|MBD1_ENST00000269468.5_Frame_Shift_Del_p.Y35fs|MBD1_ENST00000585595.1_Frame_Shift_Del_p.Y35fs|MBD1_ENST00000382948.5_Frame_Shift_Del_p.Y35fs|MBD1_ENST00000590208.1_Frame_Shift_Del_p.Y35fs|MBD1_ENST00000424334.2_Frame_Shift_Del_p.Y61fs|MBD1_ENST00000398495.2_Frame_Shift_Del_p.Y35fs|MBD1_ENST00000587605.1_Frame_Shift_Del_p.Y35fs|MBD1_ENST00000588937.1_Frame_Shift_Del_p.Y35fs|MBD1_ENST00000436910.1_Frame_Shift_Del_p.Y35fs|MBD1_ENST00000398488.1_Frame_Shift_Del_p.Y35fs|MBD1_ENST00000347968.3_Frame_Shift_Del_p.Y35fs			Q9UIS9	MBD1_HUMAN	methyl-CpG binding domain protein 1	35	MBD. {ECO:0000255|PROSITE- ProRule:PRU00338}.				negative regulation of transcription, DNA-templated (GO:0045892)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	DNA binding (GO:0003677)|methyl-CpG binding (GO:0008327)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36						ACCTCTGGTAATAGGTGTCTGA	0.554																																						ENST00000591416.1																			0				breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36						c.(100-102)tfs		methyl-CpG binding domain protein 1																																				SO:0001589	frameshift_variant	4152				negative regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|nuclear speck	methyl-CpG binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding	g.chr18:47806261_47806262delAT	Y10746	CCDS11941.1, CCDS11942.1, CCDS11943.1, CCDS11944.1, CCDS32832.1, CCDS56071.1, CCDS56072.1, CCDS56073.1, CCDS59318.1, CCDS59319.1, CCDS59320.1	18q21	2014-02-18			ENSG00000141644	ENSG00000141644			6916	protein-coding gene	gene with protein product		156535				9207790, 10441743	Standard	NM_015844		Approved	PCM1, CXXC3	uc002lem.4	Q9UIS9	OTTHUMG00000132669	ENST00000591416.1:c.101_102delAT	18.37:g.47806261_47806262delAT	ENSP00000467017:p.Tyr35fs					MBD1_ENST00000591535.1_Frame_Shift_Del_p.Y35fs|MBD1_ENST00000398488.1_Frame_Shift_Del_p.Y35fs|MBD1_ENST00000590208.1_Frame_Shift_Del_p.Y35fs|MBD1_ENST00000585672.1_Frame_Shift_Del_p.Y35fs|MBD1_ENST00000398493.1_Frame_Shift_Del_p.Y35fs|MBD1_ENST00000585595.1_Frame_Shift_Del_p.Y35fs|MBD1_ENST00000457839.2_Frame_Shift_Del_p.Y35fs|MBD1_ENST00000436910.1_Frame_Shift_Del_p.Y35fs|MBD1_ENST00000587605.1_Frame_Shift_Del_p.Y35fs|MBD1_ENST00000588937.1_Frame_Shift_Del_p.Y35fs|MBD1_ENST00000398495.2_Frame_Shift_Del_p.Y35fs|MBD1_ENST00000382948.5_Frame_Shift_Del_p.Y35fs|MBD1_ENST00000353909.3_Frame_Shift_Del_p.Y35fs|MBD1_ENST00000349085.2_Frame_Shift_Del_p.Y35fs|MBD1_ENST00000347968.3_Frame_Shift_Del_p.Y35fs|MBD1_ENST00000339998.6_Frame_Shift_Del_p.Y35fs|MBD1_ENST00000269468.5_Frame_Shift_Del_p.Y35fs|MBD1_ENST00000269471.5_Frame_Shift_Del_p.Y35fs|MBD1_ENST00000424334.2_Frame_Shift_Del_p.Y61fs	p.Y35fs			Q9UIS9	MBD1_HUMAN			2	532_533	-			35			MBD.		A4UTZ0|B4DXJ5|E9PEC5|K7ELI2|K7EQZ4|K7ESN0|O15248|O95241|Q7Z7B5|Q8N4W4|Q9UNZ6|Q9UNZ7|Q9UNZ8|Q9UNZ9	Frame_Shift_Del	DEL	ENST00000591416.1	37	c.101_102delAT	CCDS11943.1																																																																																				0.554	MBD1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000255926.3	NM_015846		26	32						26	32	---	---	---	---	-	47806262	AT	-	47806261	7	5	330	1	0	1	0	1	0	0	0	0	9342	108	4	0	1969	0	MBD1	18	47806261	Frame_Shift_Del	DEL	AT	TCGA-KK-A7B3-01A-11D-A33T-08		47806261	30270987	37	16834											
PLIN3	10226	broad.mit.edu	37	chr19	4852306	4852306	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acacaagctccttggtgtccGccaggacctaggagatgcaa	11	7	11	12	1	0	1	0	0	0	1	2	3	2	2	4	3	2	2	4	3	3	2	rs146293739	byFrequency	TCGA-KK-A7B3-01A-11D-A33T-08	TCGA-KK-A7B3-11A-21D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22aff19c-f5e8-4648-b758-b92784cd8cdf	3b8bec14-e3b8-4447-a11a-96144843d4c1	g.chr19:4852306G>A	ENST00000221957.4	-	5	532	c.356C>T	c.(355-357)gCg>gTg	p.A119V	PLIN3_ENST00000585479.1_Missense_Mutation_p.A119V|PLIN3_ENST00000592528.1_Intron	NM_001164189.1|NM_001164194.1|NM_005817.4	NP_001157661.1|NP_001157666.1|NP_005808.3	O60664	PLIN3_HUMAN	perilipin 3	119					vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|lipid particle (GO:0005811)|membrane (GO:0016020)				cervix(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)	9					Galsulfase(DB01279)|Idursulfase(DB01271)	CTTGGTGTCCGCCAGGACCTA	0.627																																						ENST00000221957.4																			0				cervix(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)	9						c.(355-357)gCg>gTg		perilipin 3	Galsulfase(DB01279)|Idursulfase(DB01271)	G	VAL/ALA,,VAL/ALA	0,4406		0,0,2203	49	44	46		356,,356	4.1	0.9	19	dbSNP_134	46	2,8598	2.2+/-6.3	0,2,4298	no	missense,intron,missense	PLIN3	NM_001164189.1,NM_001164194.1,NM_005817.4	64,,64	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	probably-damaging,,probably-damaging	119/434,,119/435	4852306	2,13004	2203	4300	6503	SO:0001583	missense	10226				vesicle-mediated transport	endosome membrane|Golgi apparatus|lipid particle	protein binding	g.chr19:4852306G>A	AF051314	CCDS12137.1, CCDS59337.1, CCDS59338.1	19p13.3	2009-08-12	2009-08-12	2009-08-12		ENSG00000105355		"Perilipins"	16893	protein-coding gene	gene with protein product	"cargo selection protein (mannose 6 phosphate receptor binding protein)", "placental protein 17", "MPR-BINDING PROTEIN, 47-KD"	602702	"mannose-6-phosphate receptor binding protein 1"	M6PRBP1		9590177, 6856484, 19638644	Standard	NM_005817		Approved	TIP47, PP17	uc002mbj.2	O60664		ENST00000221957.4:c.356C>T	19.37:g.4852306G>A	ENSP00000221957:p.Ala119Val					PLIN3_ENST00000592528.1_Intron|PLIN3_ENST00000585479.1_Missense_Mutation_p.A119V	p.A119V	NM_001164189.1|NM_001164194.1|NM_005817.4	NP_001157661.1|NP_001157666.1|NP_005808.3	O60664	PLIN3_HUMAN			5	532	-			119					A8K4Y9|K7EQF4|Q53G77|Q9BS03|Q9UBD7|Q9UP92	Missense_Mutation	SNP	ENST00000221957.4	37	c.356C>T	CCDS12137.1	.	.	.	.	.	.	.	.	.	.	G	15.26	2.782049	0.49891	0.0	2.33E-4	ENSG00000105355	ENST00000221957	T	0.06068	3.35	5.16	4.09	0.47781	.	0.441692	0.18382	U	0.142940	T	0.12135	0.0295	M	0.82823	2.61	0.36542	D	0.871345	B;B	0.28512	0.179;0.214	B;B	0.25405	0.036;0.06	T	0.03112	-1.1071	10	0.72032	D	0.01	-21.4932	11.8528	0.52422	0.0:0.0:0.8245:0.1754	.	119;119	O60664-3;O60664	.;PLIN3_HUMAN	V	119	ENSP00000221957:A119V	ENSP00000221957:A119V	A	-	2	0	PLIN3	4803306	0.009000	0.17119	0.862000	0.33874	0.282000	0.26991	1.168000	0.31859	1.121000	0.41925	0.555000	0.69702	GCG		0.627	PLIN3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000450436.1	NM_005817		3	47	0	0	0	1	0	3	47					A	4852306	G	A	4852306	3	1	330	1	0	0	0	0	1	0	0	0	12091	1087	38	1	964	1	PLIN3	19	4852306	Missense_Mutation	SNP	G	TCGA-KK-A7B3-01A-11D-A33T-08		4852306	54276677	38	16835											
TGM3	7053	broad.mit.edu	37	chr20	2291007	2291007	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ccagatcttctcccagggcgGcatctcctctgtgaaacttg	7	11	9	14	1	4	2	0	1	4	1	6	2	4	2	3	2	1	1	3	2	1	2			TCGA-KK-A7B3-01A-11D-A33T-08	TCGA-KK-A7B3-11A-21D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22aff19c-f5e8-4648-b758-b92784cd8cdf	3b8bec14-e3b8-4447-a11a-96144843d4c1	g.chr20:2291007G>A	ENST00000381458.5	+	3	428	c.365G>A	c.(364-366)gGc>gAc	p.G122D		NM_003245.3	NP_003236.3	Q08188	TGM3_HUMAN	transglutaminase 3	122					cell envelope organization (GO:0043163)|cellular protein modification process (GO:0006464)|hair follicle morphogenesis (GO:0031069)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)|protein tetramerization (GO:0051262)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)	calcium ion binding (GO:0005509)|catalytic activity (GO:0003824)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)|transferase activity, transferring acyl groups (GO:0016746)			breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(11)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	39					L-Glutamine(DB00130)	TCCCAGGGCGGCATCTCCTCT	0.552																																						ENST00000381458.5																			0				breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(11)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	39						c.(364-366)gGc>gAc		transglutaminase 3	L-Glutamine(DB00130)						199	184	189					20																	2291007		2203	4300	6503	SO:0001583	missense	7053				cell envelope organization|hair follicle morphogenesis|keratinization|peptide cross-linking|protein tetramerization	cytoplasm|extrinsic to internal side of plasma membrane	acyltransferase activity|calcium ion binding|GDP binding|GTP binding|GTPase activity|magnesium ion binding|protein-glutamine gamma-glutamyltransferase activity	g.chr20:2291007G>A	L10386	CCDS33435.1	20q11.2	2013-05-02	2013-05-02		ENSG00000125780	ENSG00000125780	2.3.2.13	"Transglutaminases"	11779	protein-coding gene	gene with protein product	"E polypeptide, protein-glutamine-gamma-glutamyltransferase"	600238	"transglutaminase 3 (E polypeptide, protein-glutamine-gamma-glutamyltransferase)"			7851911, 9452468	Standard	NM_003245		Approved	TGE	uc002wfx.4	Q08188	OTTHUMG00000031690	ENST00000381458.5:c.365G>A	20.37:g.2291007G>A	ENSP00000370867:p.Gly122Asp						p.G122D	NM_003245.3	NP_003236.3	Q08188	TGM3_HUMAN			3	428	+			122					A8K5N6|B2RCR6|D3DVX1|O95933|Q32ML9|Q32MM0	Missense_Mutation	SNP	ENST00000381458.5	37	c.365G>A	CCDS33435.1	.	.	.	.	.	.	.	.	.	.	G	9.544	1.114161	0.20795	.	.	ENSG00000125780	ENST00000381458;ENST00000420960	D	0.81579	-1.51	4.78	-2.05	0.07321	Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	3.960730	0.00610	N	0.000416	T	0.69682	0.3138	L	0.38175	1.15	0.09310	N	1	B	0.28258	0.205	B	0.18263	0.021	T	0.53443	-0.8438	10	0.38643	T	0.18	.	5.7134	0.17946	0.3977:0.1301:0.4722:0.0	.	122	Q08188	TGM3_HUMAN	D	122	ENSP00000370867:G122D	ENSP00000370867:G122D	G	+	2	0	TGM3	2239007	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-0.040000	0.12104	-0.349000	0.08274	0.462000	0.41574	GGC		0.552	TGM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077579.2	NM_003245		4	182	0	0	0	1	0	4	182					A	2291007	G	A	2291007	3	1	330	1	0	0	0	0	1	0	0	0	15828	1203	42	3	375	3	TGM3	20	2291007	Missense_Mutation	SNP	G	TCGA-KK-A7B3-01A-11D-A33T-08		2291007	60734513	39	16836											
BRWD1	54014	broad.mit.edu	37	chr21	40596364	40596364	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	aattggttccatgtcccatgGgctaagtttttcaatttcag	9	16	8	8	0	2	0	2	0	0	0	4	0	4	0	2	2	0	3	2	2	3	6			TCGA-KK-A7B3-01A-11D-A33T-08	TCGA-KK-A7B3-11A-21D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22aff19c-f5e8-4648-b758-b92784cd8cdf	3b8bec14-e3b8-4447-a11a-96144843d4c1	g.chr21:40596364G>A	ENST00000333229.2	-	29	3679	c.3352C>T	c.(3352-3354)Cca>Tca	p.P1118S	BRWD1_ENST00000342449.3_Missense_Mutation_p.P1118S|BRWD1_ENST00000380800.3_Missense_Mutation_p.P1118S	NM_018963.4	NP_061836.2	Q9NSI6	BRWD1_HUMAN	bromodomain and WD repeat domain containing 1	1118					cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2)	58		Prostate(19;8.44e-08)|all_epithelial(19;0.223)				ATGTCCCATGGGCTAAGTTTT	0.294																																					Melanoma(170;988 1986 4794 16843 39731)	ENST00000342449.3																			0				cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2)	58						c.(3352-3354)Cca>Tca		bromodomain and WD repeat domain containing 1							81	86	84					21																	40596364		2202	4294	6496	SO:0001583	missense	54014				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus		g.chr21:40596364G>A	AJ002572	CCDS13662.1, CCDS13663.1, CCDS33557.1	21q22.2	2013-05-21	2005-05-13	2005-05-13	ENSG00000185658	ENSG00000185658		"WD repeat domain containing"	12760	protein-coding gene	gene with protein product			"chromosome 21 open reading frame 107", "WD repeat domain 9"	C21orf107, WDR9			Standard	NM_033656		Approved	FLJ11315, N143	uc002yxk.2	Q9NSI6	OTTHUMG00000066030	ENST00000333229.2:c.3352C>T	21.37:g.40596364G>A	ENSP00000330753:p.Pro1118Ser					BRWD1_ENST00000380800.3_Missense_Mutation_p.P1118S|BRWD1_ENST00000333229.2_Missense_Mutation_p.P1118S	p.P1118S	NM_033656.3	NP_387505.1	Q9NSI6	BRWD1_HUMAN			29	3430	-		Prostate(19;8.44e-08)|all_epithelial(19;0.223)	1118					C9JK25|O43721|Q5R2V0|Q5R2V1|Q6P2D1|Q8TCV3|Q96QG9|Q96QH0|Q9NUK1	Missense_Mutation	SNP	ENST00000333229.2	37	c.3352C>T	CCDS13662.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.5|20.5	3.995069|3.995069	0.74703|0.74703	.|.	.|.	ENSG00000185658|ENSG00000185658	ENST00000424441|ENST00000333229;ENST00000342449;ENST00000380800;ENST00000380783	.|T;T;T	.|0.50813	.|0.73;0.73;0.73	4.95|4.95	4.95|4.95	0.65309|0.65309	.|.	0.170328|0.170328	0.41097|0.41097	D|D	0.000944|0.000944	T|T	0.76248|0.76248	0.3961|0.3961	M|M	0.91717|0.91717	3.235|3.235	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|1.0;1.0;1.0	.|D;D;D	.|0.97110	.|1.0;0.998;0.997	T|T	0.82647|0.82647	-0.0354|-0.0354	6|10	.|0.87932	.|D	.|0	-6.6714|-6.6714	18.5638|18.5638	0.91110|0.91110	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|1118;1118;1118	.|Q9NSI6-3;Q9NSI6-2;Q9NSI6	.|.;.;BRWD1_HUMAN	L|S	103|1118;1118;1118;122	.|ENSP00000330753:P1118S;ENSP00000344333:P1118S;ENSP00000370178:P1118S	.|ENSP00000330753:P1118S	P|P	-|-	2|1	0|0	BRWD1|BRWD1	39518234|39518234	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.542000|0.542000	0.35054|0.35054	9.055000|9.055000	0.93873|0.93873	2.467000|2.467000	0.83353|0.83353	0.585000|0.585000	0.79938|0.79938	CCC|CCA		0.294	BRWD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000141398.3	NM_033656		33	53	0	0	0	1	0	33	53					A	40596364	G	A	40596364	3	1	330	1	0	0	0	0	1	0	0	0	1525	1232	43	3	3905	3	BRWD1	21	40596364	Missense_Mutation	SNP	G	TCGA-KK-A7B3-01A-11D-A33T-08		40596364	7533531	40	16837											
TCEAL6	158931	broad.mit.edu	37	chrX	101396002	101396002	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggggcacataatctccagccGggcgcttttcggcggcccgc	5	7	14	15	5	1	0	0	0	1	0	3	0	1	0	3	5	1	2	3	5	1	3			TCGA-KK-A7B3-01A-11D-A33T-08	TCGA-KK-A7B3-11A-21D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22aff19c-f5e8-4648-b758-b92784cd8cdf	3b8bec14-e3b8-4447-a11a-96144843d4c1	g.chrX:101396002G>A	ENST00000372774.3	-	3	551	c.302C>T	c.(301-303)cCg>cTg	p.P101L	TCEAL6_ENST00000372773.1_Missense_Mutation_p.P101L	NM_001006938.2	NP_001006939.2	Q6IPX3	TCAL6_HUMAN	transcription elongation factor A (SII)-like 6	101					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)		p.P101L(1)		central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	14						ATCTCCAGCCGGGCGCTTTTC	0.612																																						ENST00000372774.3																			1	Substitution - Missense(1)	p.P101L(1)	lung(1)	central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	14						c.(301-303)cCg>cTg		transcription elongation factor A (SII)-like 6							81	86	84					X																	101396002		2202	4298	6500	SO:0001583	missense	158931				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chrX:101396002G>A	BC071675	CCDS43978.1	Xq22.1	2014-03-21			ENSG00000204071	ENSG00000204071			24553	protein-coding gene	gene with protein product						16221301	Standard	NM_001006938		Approved	WEX2	uc004eiq.3	Q6IPX3	OTTHUMG00000022050	ENST00000372774.3:c.302C>T	X.37:g.101396002G>A	ENSP00000361860:p.Pro101Leu					TCEAL6_ENST00000372773.1_Missense_Mutation_p.P101L	p.P101L	NM_001006938.2	NP_001006939.2	Q6IPX3	TCAL6_HUMAN			3	551	-			101					Q5H9J8	Missense_Mutation	SNP	ENST00000372774.3	37	c.302C>T	CCDS43978.1	.	.	.	.	.	.	.	.	.	.	G	8.396	0.840742	0.16891	.	.	ENSG00000204071	ENST00000372774;ENST00000372773;ENST00000536102	T;T	0.12465	2.68;2.68	2.75	0.892	0.19230	.	0.000000	0.36268	N	0.002695	T	0.11665	0.0284	M	0.74258	2.255	0.18873	N	0.999988	B	0.33448	0.412	B	0.23018	0.043	T	0.23511	-1.0186	10	0.72032	D	0.01	.	2.7702	0.05332	0.1646:0.0:0.5578:0.2776	.	101	Q6IPX3-2	.	L	101	ENSP00000361860:P101L;ENSP00000361859:P101L	ENSP00000361859:P101L	P	-	2	0	TCEAL6	101282658	0.455000	0.25736	0.037000	0.18230	0.645000	0.38454	0.413000	0.21148	0.107000	0.17824	0.468000	0.43344	CCG		0.612	TCEAL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057609.1	NM_001006938		16	79	0	0	0	1	0	16	79					A	101396002	G	A	101396002	3	1	330	1	0	0	0	0	1	0	0	0	15672	1116	39	2	253	2	TCEAL6	23	101396002	Missense_Mutation	SNP	G	TCGA-KK-A7B3-01A-11D-A33T-08		101396002	53874558	41	16838											
MBNL3	55796	broad.mit.edu	37	chrX	131516262	131516262	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggtggcaggtgttgttgctgCagacacagtggtaggtgtag	7	11	18	5	0	0	1	0	0	0	1	0	1	0	1	0	5	2	7	0	5	2	4			TCGA-KK-A7B3-01A-11D-A33T-08	TCGA-KK-A7B3-11A-21D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22aff19c-f5e8-4648-b758-b92784cd8cdf	3b8bec14-e3b8-4447-a11a-96144843d4c1	g.chrX:131516262C>A	ENST00000370853.3	-	7	1075	c.997G>T	c.(997-999)Gca>Tca	p.A333S	MBNL3_ENST00000394311.2_Missense_Mutation_p.A237S|MBNL3_ENST00000370857.3_Missense_Mutation_p.A321S|MBNL3_ENST00000370844.1_Missense_Mutation_p.A237S|MBNL3_ENST00000538204.1_Missense_Mutation_p.A271S|RAP2C-AS1_ENST00000441399.2_RNA|MBNL3_ENST00000370839.3_Missense_Mutation_p.A298S|RAP2C-AS1_ENST00000421483.2_RNA|MBNL3_ENST00000370849.3_Missense_Mutation_p.A283S	NM_018388.3	NP_060858.2	Q9NUK0	MBNL3_HUMAN	muscleblind-like splicing regulator 3	333					mRNA processing (GO:0006397)|multicellular organismal development (GO:0007275)|negative regulation of myoblast differentiation (GO:0045662)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(5)|prostate(2)	16	Acute lymphoblastic leukemia(192;0.000127)					GTTGTTGCTGCAGACACAGTG	0.468																																						ENST00000538204.1																			0				NS(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(5)|prostate(2)	16						c.(811-813)Gca>Tca		muscleblind-like splicing regulator 3							212	179	190					X																	131516262		2203	4300	6503	SO:0001583	missense	55796				mRNA processing|multicellular organismal development|regulation of RNA splicing|RNA splicing	Golgi apparatus|nucleus	nucleic acid binding|zinc ion binding	g.chrX:131516262C>A	AF491305	CCDS14633.1, CCDS14634.1, CCDS55492.1, CCDS55493.1, CCDS55494.1	Xq26.2	2013-01-18	2012-02-23		ENSG00000076770	ENSG00000076770		"Zinc fingers, CCCH-type domain containing"	20564	protein-coding gene	gene with protein product		300413	"muscleblind-like 3 (Drosophila)"			12297108, 10970838	Standard	NM_018388		Approved	CHCR, FLJ11316, MBLX39, MBXL	uc004ewv.4	Q9NUK0	OTTHUMG00000022426	ENST00000370853.3:c.997G>T	X.37:g.131516262C>A	ENSP00000359890:p.Ala333Ser					MBNL3_ENST00000370853.3_Missense_Mutation_p.A333S|MBNL3_ENST00000394311.2_Missense_Mutation_p.A237S|MBNL3_ENST00000370849.3_Missense_Mutation_p.A283S|RP5-842K24.2_ENST00000421483.1_RNA|MBNL3_ENST00000370844.1_Missense_Mutation_p.A237S|RP5-842K24.2_ENST00000441399.1_RNA|MBNL3_ENST00000370857.3_Missense_Mutation_p.A321S|MBNL3_ENST00000370839.3_Missense_Mutation_p.A298S	p.A271S	NM_001170702.1	NP_001164173.1	Q9NUK0	MBNL3_HUMAN			6	876	-	Acute lymphoblastic leukemia(192;0.000127)		333					Q5JXN8|Q5JXN9|Q5JXP4|Q6UDQ1|Q8IUR4|Q8TAD9|Q8TAF4|Q9H0Z7|Q9UF37	Missense_Mutation	SNP	ENST00000370853.3	37	c.811G>T	CCDS14633.1	.	.	.	.	.	.	.	.	.	.	C	19.36	3.812839	0.70912	.	.	ENSG00000076770	ENST00000394311;ENST00000538204;ENST00000370857;ENST00000370853;ENST00000370849;ENST00000370839;ENST00000370844;ENST00000442191;ENST00000436215	T;T;T	0.54071	0.77;0.63;0.59	5.97	5.1	0.69264	.	0.080608	0.52532	D	0.000079	T	0.66992	0.2846	L	0.58669	1.825	0.34857	D	0.742197	B;B;D;B;B	0.69078	0.047;0.027;0.997;0.047;0.211	B;B;D;B;B	0.77557	0.056;0.056;0.99;0.056;0.081	T	0.72290	-0.4337	10	0.23891	T	0.37	-4.8556	14.7487	0.69508	0.0:0.9286:0.0:0.0714	.	271;333;298;283;237	Q9NUK0-4;Q9NUK0;Q9NUK0-2;Q9NUK0-3;Q8IUR4	.;MBNL3_HUMAN;.;.;.	S	237;271;321;333;283;298;237;114;237	ENSP00000359894:A321S;ENSP00000359890:A333S;ENSP00000359876:A298S	ENSP00000359876:A298S	A	-	1	0	MBNL3	131343943	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.824000	0.48088	1.253000	0.44018	0.600000	0.82982	GCA		0.468	MBNL3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058319.1	NM_018388		44	30	1	0	4.64027e-19	1	5.13391e-19	44	30					A	131516262	C	A	131516262	3	1	330	1	0	0	0	0	1	0	0	0	9355	710	25	5	136	5	MBNL3	23	131516262	Missense_Mutation	SNP	C	TCGA-KK-A7B3-01A-11D-A33T-08	30120260	131516262	23754298	42	16839											
AADACL4	343066	broad.mit.edu	37	chr1	12726259	12726259	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaatgtcccattactttcccGgaagttcatggtgacttctc	9	14	7	11	1	2	1	1	1	1	0	5	2	4	2	2	2	1	1	2	2	3	4	rs201123258		TCGA-KK-A7B4-01A-11D-A32B-08	TCGA-KK-A7B4-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48f40308-4306-49e9-95a2-2f3d5430bb1c	def273a4-201d-40ba-81ca-df45a7320547	g.chr1:12726259G>A	ENST00000376221.1	+	4	737	c.737G>A	c.(736-738)cGg>cAg	p.R246Q		NM_001013630.1	NP_001013652.1	Q5VUY2	ADCL4_HUMAN	arylacetamide deacetylase-like 4	246						integral component of membrane (GO:0016021)	carboxylic ester hydrolase activity (GO:0052689)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)	17	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.000937)|all_lung(284;0.00122)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.81e-07)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0384)		TTACTTTCCCGGAAGTTCATG	0.522													G|||	1	0.000199681	0	0	5008	,	,		20193	0.001		0	False		,,,				2504	0					ENST00000376221.1																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)	17						c.(736-738)cGg>cAg		arylacetamide deacetylase-like 4							161	161	161					1																	12726259		2203	4300	6503	SO:0001583	missense	343066					integral to membrane	carboxylesterase activity	g.chr1:12726259G>A		CCDS30590.1	1p36.21	2010-12-14			ENSG00000204518	ENSG00000204518			32038	protein-coding gene	gene with protein product							Standard	XM_006710608		Approved	OTTHUMG00000001889	uc001auf.3	Q5VUY2	OTTHUMG00000001889	ENST00000376221.1:c.737G>A	1.37:g.12726259G>A	ENSP00000365395:p.Arg246Gln						p.R246Q	NM_001013630.1	NP_001013652.1	Q5VUY2	ADCL4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.81e-07)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0384)	4	737	+	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.000937)|all_lung(284;0.00122)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)	246						Missense_Mutation	SNP	ENST00000376221.1	37	c.737G>A	CCDS30590.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	8.199	0.797672	0.16327	.	.	ENSG00000204518	ENST00000376221	T	0.12255	2.7	4.03	-8.05	0.01106	Alpha/beta hydrolase fold-3 (1);	1.122620	0.06974	N	0.818546	T	0.08268	0.0206	L	0.38953	1.18	0.09310	N	1	B	0.24483	0.104	B	0.21917	0.037	T	0.24404	-1.0161	10	0.30854	T	0.27	2.8056	5.3171	0.15862	0.526:0.0887:0.2958:0.0895	.	246	Q5VUY2	ADCL4_HUMAN	Q	246	ENSP00000365395:R246Q	ENSP00000365395:R246Q	R	+	2	0	AADACL4	12648846	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.896000	0.00706	-2.408000	0.00573	-1.036000	0.02392	CGG		0.522	AADACL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005328.1	NM_001013630		58	104	0	0	0	1	0	58	104					A	12726259	G	A	12726259	3	1	331	1	0	0	0	0	1	0	0	0	13	1116	39	2	751	2	AADACL4	1	12726259	Missense_Mutation	SNP	G	TCGA-KK-A7B4-01A-11D-A32B-08		12726259	236524362	1	16840											
TFAP2E	339488	broad.mit.edu	37	chr1	36055549	36055549	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	agggccaagtccaaaaatggGggccggtgtttgcgggaacg	10	6	17	8	3	0	0	0	0	0	0	1	1	1	1	3	5	2	1	3	5	4	1			TCGA-KK-A7B4-01A-11D-A32B-08	TCGA-KK-A7B4-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48f40308-4306-49e9-95a2-2f3d5430bb1c	def273a4-201d-40ba-81ca-df45a7320547	g.chr1:36055549G>A	ENST00000373235.3	+	5	1012	c.804G>A	c.(802-804)ggG>ggA	p.G268G		NM_178548.3	NP_848643.2			transcription factor AP-2 epsilon (activating enhancer binding protein 2 epsilon)											endometrium(1)|large_intestine(1)	2		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.196)				CCAAAAATGGGGGCCGGTGTT	0.547																																						ENST00000373235.3																			0				endometrium(1)|large_intestine(1)	2						c.(802-804)ggG>ggA		transcription factor AP-2 epsilon (activating enhancer binding protein 2 epsilon)							75	69	71					1																	36055549		2203	4300	6503	SO:0001819	synonymous_variant	339488					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr1:36055549G>A	BC041175	CCDS393.2	1p34.3	2008-02-05			ENSG00000116819	ENSG00000116819			30774	protein-coding gene	gene with protein product		614428				14636996	Standard	NM_178548		Approved	AP2E	uc010ohy.2	Q6VUC0	OTTHUMG00000004388	ENST00000373235.3:c.804G>A	1.37:g.36055549G>A							p.G268G	NM_178548.3	NP_848643.2	Q6VUC0	AP2E_HUMAN			5	1012	+		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.196)	268						Silent	SNP	ENST00000373235.3	37	c.804G>A	CCDS393.2																																																																																				0.547	TFAP2E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012732.1	NM_178548		7	51	0	0	0	1	0	7	51					A	36055549	G	A	36055549	2	1	331	1	0	0	0	0	0	0	0	1	15788	1219	43	3		3	TFAP2E	1	36055549	Silent	SNP	G	TCGA-KK-A7B4-01A-11D-A32B-08	23329290	36055549	213195072	2	16841											
LRRC8B	23507	broad.mit.edu	37	chr1	90058579	90058579	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tccctgtaacagaacgtttaCagacgtgcttagacaaatgt	13	11	8	9	2	0	3	0	0	0	3	1	3	1	3	1	0	4	3	1	0	5	4			TCGA-KK-A7B4-01A-11D-A32B-08	TCGA-KK-A7B4-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48f40308-4306-49e9-95a2-2f3d5430bb1c	def273a4-201d-40ba-81ca-df45a7320547	g.chr1:90058579C>A	ENST00000330947.2	+	6	2749	c.2389C>A	c.(2389-2391)Cag>Aag	p.Q797K	RP5-1007M22.2_ENST00000443562.1_RNA|LRRC8B_ENST00000358200.4_Missense_Mutation_p.Q797K|LRRC8B_ENST00000439853.1_Missense_Mutation_p.Q797K	NM_001134476.1	NP_001127948.1	Q6P9F7	LRC8B_HUMAN	leucine rich repeat containing 8 family, member B	797					ion transport (GO:0006811)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	26		all_lung(203;0.17)		all cancers(265;0.00515)|Epithelial(280;0.0241)		AGAACGTTTACAGACGTGCTT	0.433																																						ENST00000330947.2																			0				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	26						c.(2389-2391)Cag>Aag		leucine rich repeat containing 8 family, member B							117	109	111					1																	90058579		2203	4300	6503	SO:0001583	missense	23507					integral to membrane		g.chr1:90058579C>A	AF385436	CCDS724.1	1p22.2	2008-02-05			ENSG00000197147	ENSG00000197147			30692	protein-coding gene	gene with protein product	"T cell activation leucine repeat rich protein"	612888				9039502	Standard	NM_015350		Approved	TA-LRRP, KIAA0231	uc001dni.3	Q6P9F7	OTTHUMG00000010129	ENST00000330947.2:c.2389C>A	1.37:g.90058579C>A	ENSP00000332674:p.Gln797Lys					LRRC8B_ENST00000439853.1_Missense_Mutation_p.Q797K|LRRC8B_ENST00000358200.4_Missense_Mutation_p.Q797K|RP5-1007M22.2_ENST00000443562.1_RNA	p.Q797K	NM_001134476.1	NP_001127948.1	Q6P9F7	LRC8B_HUMAN		all cancers(265;0.00515)|Epithelial(280;0.0241)	6	2749	+		all_lung(203;0.17)	797					D3DT28|Q6UY21|Q8N106|Q92627	Missense_Mutation	SNP	ENST00000330947.2	37	c.2389C>A	CCDS724.1	.	.	.	.	.	.	.	.	.	.	C	8.183	0.794283	0.16327	.	.	ENSG00000197147	ENST00000330947;ENST00000358200;ENST00000439853	T;T;T	0.35048	1.33;1.33;1.33	6.16	6.16	0.99307	.	0.000000	0.64402	D	0.000007	T	0.11665	0.0284	N	0.14661	0.345	0.41455	D	0.988001	B	0.02656	0.0	B	0.04013	0.001	T	0.10730	-1.0617	9	.	.	.	.	15.5636	0.76269	0.1378:0.8622:0.0:0.0	.	797	Q6P9F7	LRC8B_HUMAN	K	797	ENSP00000332674:Q797K;ENSP00000350933:Q797K;ENSP00000400704:Q797K	.	Q	+	1	0	LRRC8B	89831167	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	3.066000	0.50002	2.937000	0.99478	0.650000	0.86243	CAG		0.433	LRRC8B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028008.1	NM_015350		36	64	1	0	6.04917e-29	1	7.25901e-29	36	64					A	90058579	C	A	90058579	3	1	331	1	0	0	0	0	1	0	0	0	9022	479	17	5	2395	5	LRRC8B	1	90058579	Missense_Mutation	SNP	C	TCGA-KK-A7B4-01A-11D-A32B-08	54003030	90058579	159192042	3	16842											
FAM102B	284611	broad.mit.edu	37	chr1	109170825	109170825	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgcctctgttccagacgaacTtggtgcctgtggacattcta	7	13	10	11	1	2	1	0	0	2	1	3	3	3	2	3	2	3	1	3	2	2	4			TCGA-KK-A7B4-01A-11D-A32B-08	TCGA-KK-A7B4-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48f40308-4306-49e9-95a2-2f3d5430bb1c	def273a4-201d-40ba-81ca-df45a7320547	g.chr1:109170825T>G	ENST00000370035.3	+	7	933	c.593T>G	c.(592-594)cTt>cGt	p.L198R	FAM102B_ENST00000405454.1_Missense_Mutation_p.L198R	NM_001010883.2	NP_001010883.2	Q5T8I3	F102B_HUMAN	family with sequence similarity 102, member B	198										autonomic_ganglia(1)|kidney(1)|large_intestine(1)|lung(1)|skin(1)	5		all_epithelial(167;5.52e-05)|all_lung(203;0.00026)|Lung NSC(277;0.000508)		Colorectal(144;0.0217)|Lung(183;0.109)|COAD - Colon adenocarcinoma(174;0.141)|Epithelial(280;0.182)		CCAGACGAACTTGGTGCCTGT	0.378																																						ENST00000370035.3																			0				autonomic_ganglia(1)|kidney(1)|large_intestine(1)|lung(1)|skin(1)	5						c.(592-594)cTt>cGt		family with sequence similarity 102, member B							108	98	101					1																	109170825		2203	4300	6503	SO:0001583	missense	284611							g.chr1:109170825T>G	CR749397	CCDS30786.2	1p13.3	2012-11-05			ENSG00000162636	ENSG00000162636			27637	protein-coding gene	gene with protein product	"sym-3 homolog B (C. elegans)"						Standard	NM_001010883		Approved	DKFZp779B126, SYM-3B	uc010ouy.2	Q5T8I3	OTTHUMG00000010967	ENST00000370035.3:c.593T>G	1.37:g.109170825T>G	ENSP00000359052:p.Leu198Arg					FAM102B_ENST00000405454.1_Missense_Mutation_p.L198R	p.L198R	NM_001010883.2	NP_001010883.2	Q5T8I3	F102B_HUMAN		Colorectal(144;0.0217)|Lung(183;0.109)|COAD - Colon adenocarcinoma(174;0.141)|Epithelial(280;0.182)	7	933	+		all_epithelial(167;5.52e-05)|all_lung(203;0.00026)|Lung NSC(277;0.000508)	198					A1L1A1|B0QZ46|B0QZ47|Q68DH7	Missense_Mutation	SNP	ENST00000370035.3	37	c.593T>G	CCDS30786.2	.	.	.	.	.	.	.	.	.	.	T	22.0	4.224640	0.79576	.	.	ENSG00000162636	ENST00000370035;ENST00000405454;ENST00000437902	.	.	.	5.41	5.41	0.78517	.	0.060632	0.64402	D	0.000004	T	0.57066	0.2028	M	0.63428	1.95	0.58432	D	0.999997	P	0.52170	0.951	P	0.54706	0.759	T	0.55692	-0.8101	9	0.26408	T	0.33	-10.1757	15.4332	0.75121	0.0:0.0:0.0:1.0	.	198	Q5T8I3	F102B_HUMAN	R	198	.	ENSP00000359052:L198R	L	+	2	0	FAM102B	108972348	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.499000	0.81566	2.041000	0.60428	0.533000	0.62120	CTT		0.378	FAM102B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030188.3	NM_001010883		30	41	0	0	0	1	0	30	41					G	109170825	T	G	109170825	3	3	331	1	0	0	0	0	1	0	0	0	5383	1609	56	5	619	5	FAM102B	1	109170825	Missense_Mutation	SNP	T	TCGA-KK-A7B4-01A-11D-A32B-08	19112246	109170825	140079796	4	16843											
JTB	10899	broad.mit.edu	37	chr1	153947268	153947268	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cacacacacgacagccccttCgaacttccaaaataagcgtt	14	7	5	15	3	0	0	0	0	0	0	2	2	1	0	3	0	3	1	3	0	4	4			TCGA-KK-A7B4-01A-11D-A32B-08	TCGA-KK-A7B4-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48f40308-4306-49e9-95a2-2f3d5430bb1c	def273a4-201d-40ba-81ca-df45a7320547	g.chr1:153947268C>T	ENST00000271843.4	-	5	763	c.328G>A	c.(328-330)Gaa>Aaa	p.E110K	RP11-422P24.11_ENST00000608236.1_lincRNA|JTB_ENST00000356648.1_Missense_Mutation_p.E81K|JTB_ENST00000368589.1_Missense_Mutation_p.E81K|JTB_ENST00000471173.1_5'Flank	NM_006694.3	NP_006685.1	O76095	JTB_HUMAN	jumping translocation breakpoint	110					apoptotic mitochondrial changes (GO:0008637)|cytokinesis (GO:0000910)|mitotic nuclear division (GO:0007067)|positive regulation of protein kinase activity (GO:0045860)|regulation of cell proliferation (GO:0042127)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|midbody (GO:0030496)|mitochondrion (GO:0005739)	protein kinase binding (GO:0019901)			endometrium(1)|kidney(1)|large_intestine(2)|lung(6)	10	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			ACAGCCCCTTCGAACTTCCAA	0.502																																						ENST00000271843.4																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(6)	10						c.(328-330)Gaa>Aaa		jumping translocation breakpoint							108	94	99					1																	153947268		2203	4300	6503	SO:0001583	missense	10899				apoptosis|cell cycle cytokinesis|mitosis|positive regulation of protein kinase activity	integral to plasma membrane|membrane fraction|microtubule organizing center|midbody|mitochondrion|spindle	protein kinase binding	g.chr1:153947268C>T	AB016488	CCDS1057.1	1q21	2010-11-16			ENSG00000143543	ENSG00000143543			6201	protein-coding gene	gene with protein product	"prostate androgen-regulated gene"	604671				10321732	Standard	NM_006694		Approved	hJT	uc001fds.3	O76095	OTTHUMG00000036590	ENST00000271843.4:c.328G>A	1.37:g.153947268C>T	ENSP00000271843:p.Glu110Lys					JTB_ENST00000356648.1_Missense_Mutation_p.E81K|JTB_ENST00000368589.1_Missense_Mutation_p.E81K	p.E110K	NM_006694.3	NP_006685.1	O76095	JTB_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.151)		5	763	-	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		110					O95442|Q6IB19|Q9P0Q4	Missense_Mutation	SNP	ENST00000271843.4	37	c.328G>A	CCDS1057.1	.	.	.	.	.	.	.	.	.	.	C	19.67	3.870716	0.72065	.	.	ENSG00000143543	ENST00000271843;ENST00000356648;ENST00000368589;ENST00000428469	T	0.50277	0.75	5.53	5.53	0.82687	.	0.145114	0.49305	D	0.000157	T	0.63117	0.2484	M	0.73217	2.22	0.58432	D	0.999995	D	0.89917	1.0	D	0.77557	0.99	T	0.64050	-0.6498	10	0.66056	D	0.02	-12.8662	17.0114	0.86407	0.0:1.0:0.0:0.0	.	110	O76095	JTB_HUMAN	K	110;81;81;81	ENSP00000271843:E110K	ENSP00000271843:E110K	E	-	1	0	JTB	152213892	1.000000	0.71417	0.977000	0.42913	0.063000	0.16089	5.634000	0.67833	2.871000	0.98454	0.655000	0.94253	GAA		0.502	JTB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088996.1	NM_006694		21	47	0	0	0	1	0	21	47					T	153947268	C	T	153947268	3	4	331	1	0	0	0	0	1	0	0	0	7967	893	31	2	116	2	JTB	1	153947268	Missense_Mutation	SNP	C	TCGA-KK-A7B4-01A-11D-A32B-08	44776443	153947268	95303353	5	16844											
IER5	51278	broad.mit.edu	37	chr1	181058365	181058365	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagcgctcctccgtctcagaCgcgccgcgggtaggggacga	6	5	16	14	7	1	1	1	0	1	1	4	4	3	2	3	3	1	2	3	3	1	1			TCGA-KK-A7B4-01A-11D-A32B-08	TCGA-KK-A7B4-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48f40308-4306-49e9-95a2-2f3d5430bb1c	def273a4-201d-40ba-81ca-df45a7320547	g.chr1:181058365C>G	ENST00000367577.4	+	1	728	c.327C>G	c.(325-327)gaC>gaG	p.D109E	RP11-309G3.3_ENST00000606938.1_lincRNA	NM_016545.4	NP_057629.2	Q5VY09	IER5_HUMAN	immediate early response 5	109										lung(1)|ovary(1)|pancreas(1)|urinary_tract(1)	4						CCGTCTCAGACGCGCCGCGGG	0.761																																						ENST00000367577.4																			0				lung(1)|ovary(1)|pancreas(1)|urinary_tract(1)	4						c.(325-327)gaC>gaG		immediate early response 5							13	15	14					1																	181058365		2152	4228	6380	SO:0001583	missense	51278							g.chr1:181058365C>G	BC000128	CCDS1343.1	1q25.3	2008-02-05			ENSG00000162783	ENSG00000162783			5393	protein-coding gene	gene with protein product		607177				10049588, 11102586	Standard	NM_016545		Approved		uc001got.4	Q5VY09	OTTHUMG00000035178	ENST00000367577.4:c.327C>G	1.37:g.181058365C>G	ENSP00000356549:p.Asp109Glu						p.D109E	NM_016545.4	NP_057629.2	Q5VY09	IER5_HUMAN			1	728	+			109					B2RBV3|Q8WY68|Q9NY49|Q9NZP9	Missense_Mutation	SNP	ENST00000367577.4	37	c.327C>G	CCDS1343.1	.	.	.	.	.	.	.	.	.	.	C	0.004	-2.295378	0.00245	.	.	ENSG00000162783	ENST00000367577;ENST00000545568	T	0.08546	3.08	3.53	-0.00676	0.14011	.	2.669490	0.02641	N	0.105379	T	0.02807	0.0084	N	0.01576	-0.805	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.38156	-0.9674	10	0.02654	T	1	.	6.6444	0.22927	0.1921:0.4663:0.3415:0.0	.	109	Q5VY09	IER5_HUMAN	E	109	ENSP00000356549:D109E	ENSP00000356549:D109E	D	+	3	2	IER5	179324988	0.010000	0.17322	0.001000	0.08648	0.006000	0.05464	-0.124000	0.10595	0.103000	0.17682	-0.506000	0.04501	GAC		0.761	IER5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085142.1	NM_016545		4	13	0	0	0	1	0	4	13					G	181058365	C	G	181058365	3	3	331	1	0	0	0	0	1	0	0	0	7508	535	19	5	329	5	IER5	1	181058365	Missense_Mutation	SNP	C	TCGA-KK-A7B4-01A-11D-A32B-08	27111097	181058365	68192256	6	16845											
GLT25D2	23127	broad.mit.edu	37	chr1	183933081	183933081	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aggttctcgatgtcttcctgCagtgtctgatggggcttcag	5	14	13	9	1	4	1	1	1	3	0	6	2	5	1	1	3	1	3	1	3	0	3			TCGA-KK-A7B4-01A-11D-A32B-08	TCGA-KK-A7B4-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48f40308-4306-49e9-95a2-2f3d5430bb1c	def273a4-201d-40ba-81ca-df45a7320547	g.chr1:183933081C>T	ENST00000361927.4	-	6	1277	c.906G>A	c.(904-906)ctG>ctA	p.L302L	COLGALT2_ENST00000367520.3_Silent_p.L39L|COLGALT2_ENST00000546159.1_Silent_p.L302L	NM_015101.2	NP_055916.1	Q8IYK4	GT252_HUMAN	collagen beta(1-O)galactosyltransferase 2	302					extracellular matrix organization (GO:0030198)|lipopolysaccharide biosynthetic process (GO:0009103)	endoplasmic reticulum lumen (GO:0005788)	procollagen galactosyltransferase activity (GO:0050211)										TGTCTTCCTGCAGTGTCTGAT	0.547																																						ENST00000361927.4																			0											c.(904-906)ctG>ctA		collagen beta(1-O)galactosyltransferase 2							175	130	145					1																	183933081		2203	4300	6503	SO:0001819	synonymous_variant	23127							g.chr1:183933081C>T	AF288389	CCDS1360.1	1q25	2013-02-27	2013-02-27	2013-02-27	ENSG00000198756	ENSG00000198756			16790	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 17", "glycosyltransferase 25 domain containing 2"	C1orf17, GLT25D2		19075007	Standard	XM_005245008		Approved	KIAA0584	uc001gqr.3	Q8IYK4	OTTHUMG00000035460	ENST00000361927.4:c.906G>A	1.37:g.183933081C>T						COLGALT2_ENST00000367520.3_Silent_p.L39L|COLGALT2_ENST00000546159.1_Silent_p.L302L	p.L302L	NM_015101.2	NP_055916.1					6	1277	-								O60327|Q9BZR0	Silent	SNP	ENST00000361927.4	37	c.906G>A	CCDS1360.1																																																																																				0.547	COLGALT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086128.1	NM_015101		3	46	0	0	0	1	0	3	46					T	183933081	C	T	183933081	2	4	331	1	0	0	0	0	0	0	0	1	6467	697	25	3		3	GLT25D2	1	183933081	Silent	SNP	C	TCGA-KK-A7B4-01A-11D-A32B-08	2874716	183933081	65317540	7	16846											
C1orf106	55765	broad.mit.edu	37	chr1	200880923	200880923	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccgcctggctatttcccggcGgggcggtacgtggtggtggc	2	9	18	12	5	0	0	0	0	0	0	1	0	1	0	3	8	1	2	3	8	2	3			TCGA-KK-A7B4-01A-11D-A32B-08	TCGA-KK-A7B4-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48f40308-4306-49e9-95a2-2f3d5430bb1c	def273a4-201d-40ba-81ca-df45a7320547	g.chr1:200880923G>A	ENST00000367342.4	+	9	1757	c.1557G>A	c.(1555-1557)gcG>gcA	p.A519A	C1orf106_ENST00000413687.2_Silent_p.A434A	NM_018265.3	NP_060735.3	Q3KP66	CA106_HUMAN	chromosome 1 open reading frame 106	519										endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(2)	21						ATTTCCCGGCGGGGCGGTACG	0.731																																						ENST00000367342.4																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(2)	21						c.(1555-1557)gcG>gcA		chromosome 1 open reading frame 106							10	13	12					1																	200880923		2162	4197	6359	SO:0001819	synonymous_variant	55765							g.chr1:200880923G>A	AK001763	CCDS44292.1	1q32.1	2011-02-15			ENSG00000163362	ENSG00000163362			25599	protein-coding gene	gene with protein product						14702039	Standard	NM_018265		Approved	FLJ10901	uc001gvo.4	Q3KP66	OTTHUMG00000035789	ENST00000367342.4:c.1557G>A	1.37:g.200880923G>A						C1orf106_ENST00000413687.2_Silent_p.A434A	p.A519A	NM_018265.3	NP_060735.3	Q3KP66	CA106_HUMAN			9	1757	+			519					B4E1K9|E9PFY0|Q9NV65|Q9NVI0	Silent	SNP	ENST00000367342.4	37	c.1557G>A																																																																																					0.731	C1orf106-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000087057.2	NM_018265		5	15	0	0	0	1	0	5	15					A	200880923	G	A	200880923	2	1	331	1	0	0	0	0	0	0	0	1	1980	1103	39	2		2	C1orf106	1	200880923	Silent	SNP	G	TCGA-KK-A7B4-01A-11D-A32B-08	16947842	200880923	48369698	8	16847											
TGOLN2	10618	broad.mit.edu	37	chr2	85554507	85554507	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtgctgtcttttgtggtctgCgcctccgaacccgacttgct	3	14	11	13	3	2	0	0	0	2	0	3	2	3	0	3	1	4	2	3	1	1	3			TCGA-KK-A7B4-01A-11D-A32B-08	TCGA-KK-A7B4-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48f40308-4306-49e9-95a2-2f3d5430bb1c	def273a4-201d-40ba-81ca-df45a7320547	g.chr2:85554507C>T	ENST00000409232.3	-	2	409	c.348G>A	c.(346-348)gcG>gcA	p.A116A	TGOLN2_ENST00000282120.2_Intron|TGOLN2_ENST00000398263.2_Silent_p.A116A|TGOLN2_ENST00000409015.1_Silent_p.A116A|TGOLN2_ENST00000377386.3_Silent_p.A116A|TGOLN2_ENST00000444342.2_Silent_p.A116A			O43493	TGON2_HUMAN	trans-golgi network protein 2	116	14 X 14 AA tandem repeats.					Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)|transport vesicle (GO:0030133)											TTGTGGTCTGCGCCTCCGAAC	0.572																																						ENST00000377386.3																			0											c.(346-348)gcG>gcA		trans-golgi network protein 2							384	382	383					2																	85554507		1999	4165	6164	SO:0001819	synonymous_variant	10618					integral to membrane|nucleus|plasma membrane|trans-Golgi network|transport vesicle	protein binding	g.chr2:85554507C>T	AF027515	CCDS46351.1, CCDS56126.1, CCDS56127.1	2p11.2	2012-06-25			ENSG00000152291	ENSG00000152291			15450	protein-coding gene	gene with protein product	"trans-Golgi network protein (46, 48, 51kD isoforms)"	603062				9422759, 21994457	Standard	NM_001206840		Approved	TGN51, TGN46, TGN48, TGN38, TTGN2	uc021vjw.1	O43493	OTTHUMG00000153017	ENST00000409232.3:c.348G>A	2.37:g.85554507C>T						TGOLN2_ENST00000409232.3_Silent_p.A116A|TGOLN2_ENST00000409015.1_Silent_p.A116A|TGOLN2_ENST00000398263.2_Silent_p.A116A|TGOLN2_ENST00000282120.2_Intron|TGOLN2_ENST00000444342.2_Silent_p.A116A	p.A116A			O43493	TGON2_HUMAN			2	810	-			116			14 X 14 AA tandem repeats.		B2R686|B8ZZ88|D6W5K3|F8WBK2|O15282|O43492|O43499|O43500|O43501|Q53G68|Q53GV2|Q6MZV1|Q6ZTM7|Q8N6T8|Q92760|Q96QL2	Silent	SNP	ENST00000409232.3	37	c.348G>A	CCDS56126.1																																																																																				0.572	TGOLN2-006	NOVEL	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000329045.2	NM_006464		6	699	0	0	0	1	0	6	699					T	85554507	C	T	85554507	2	4	331	1	0	0	0	0	0	0	0	1	15833	755	27	1		1	TGOLN2	2	85554507	Silent	SNP	C	TCGA-KK-A7B4-01A-11D-A32B-08		85554507	157644866	9	16848											
BMPR2	659	broad.mit.edu	37	chr2	203379699	203379699	+	Missense_Mutation	SNP	G	G	T																															ctagataatctgaaactgttGgaggtaagtttgccgttaga																										TCGA-KK-A7B4-01A-11D-A32B-08	TCGA-KK-A7B4-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48f40308-4306-49e9-95a2-2f3d5430bb1c	def273a4-201d-40ba-81ca-df45a7320547	g.chr2:203379699G>T	ENST00000374580.4	+	5	1157	c.618G>T	c.(616-618)ttG>ttT	p.L206F	BMPR2_ENST00000374574.2_Missense_Mutation_p.L206F	NM_001204.6	NP_001195.2	Q13873	BMPR2_HUMAN	bone morphogenetic protein receptor, type II (serine/threonine kinase)	206	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activin receptor signaling pathway (GO:0032924)|anterior/posterior pattern specification (GO:0009952)|artery development (GO:0060840)|blood vessel remodeling (GO:0001974)|BMP signaling pathway (GO:0030509)|brain development (GO:0007420)|cellular response to starvation (GO:0009267)|chondrocyte development (GO:0002063)|limb development (GO:0060173)|lung alveolus development (GO:0048286)|lymphangiogenesis (GO:0001946)|lymphatic endothelial cell differentiation (GO:0060836)|mesoderm formation (GO:0001707)|negative regulation of cell growth (GO:0030308)|negative regulation of chondrocyte proliferation (GO:1902731)|negative regulation of DNA biosynthetic process (GO:2000279)|negative regulation of systemic arterial blood pressure (GO:0003085)|negative regulation of vasoconstriction (GO:0045906)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of bone mineralization (GO:0030501)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|regulation of cell proliferation (GO:0042127)|regulation of lung blood pressure (GO:0014916)|retina vasculature development in camera-type eye (GO:0061298)|transcription from RNA polymerase II promoter (GO:0006366)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|venous blood vessel development (GO:0060841)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|caveola (GO:0005901)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|fully spanning plasma membrane (GO:0044214)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	activin receptor activity, type II (GO:0016362)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|transforming growth factor beta-activated receptor activity (GO:0005024)			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(11)|lung(7)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(2)	42						TGAAACTGTTGGAGGTAAGTT	0.393																																						ENST00000374580.4																			0				autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(11)|lung(7)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(2)	42						c.(616-618)ttG>ttT		bone morphogenetic protein receptor, type II (serine/threonine kinase)							175	149	158					2																	203379699		2203	4300	6503	SO:0001583	missense	659				anterior/posterior pattern formation|BMP signaling pathway|cellular response to starvation|lung alveolus development|mesoderm formation|negative regulation of cell growth|negative regulation of systemic arterial blood pressure|negative regulation of vasoconstriction|positive regulation of BMP signaling pathway|positive regulation of bone mineralization|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of epithelial cell migration|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|regulation of lung blood pressure|transcription from RNA polymerase II promoter|vascular endothelial growth factor receptor signaling pathway	integral to plasma membrane	ATP binding|metal ion binding|transforming growth factor beta receptor activity	g.chr2:203379699G>T	Z48923	CCDS33361.1	2q33-q34	2014-09-17			ENSG00000204217	ENSG00000204217			1078	protein-coding gene	gene with protein product		600799	"primary pulmonary hypertension 1"	PPH1		7791754	Standard	NM_001204		Approved	BRK-3, T-ALK, BMPR3, BMPR-II	uc002uzf.4	Q13873	OTTHUMG00000133617	ENST00000374580.4:c.618G>T	2.37:g.203379699G>T	ENSP00000363708:p.Leu206Phe					BMPR2_ENST00000374574.2_Missense_Mutation_p.L206F	p.L206F	NM_001204.6	NP_001195.2	Q13873	BMPR2_HUMAN			5	1157	+			206			Protein kinase.		Q13161|Q16569|Q4ZG08|Q53SA5|Q585T8	Missense_Mutation	SNP	ENST00000374580.4	37	c.618G>T	CCDS33361.1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.264637	0.80358	.	.	ENSG00000204217	ENST00000374580;ENST00000374574	D;D	0.94232	-3.38;-3.38	5.92	4.13	0.48395	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.94006	0.8080	L	0.47016	1.485	0.58432	D	0.999998	D;D	0.71674	0.998;0.996	D;D	0.65323	0.934;0.924	D	0.93067	0.6479	10	0.62326	D	0.03	.	9.5893	0.39537	0.2112:0.0:0.7888:0.0	.	206;206	Q13161;Q13873	.;BMPR2_HUMAN	F	206	ENSP00000363708:L206F;ENSP00000363702:L206F	ENSP00000363702:L206F	L	+	3	2	BMPR2	203087944	1.000000	0.71417	0.999000	0.59377	0.986000	0.74619	0.973000	0.29422	0.832000	0.34804	0.650000	0.86243	TTG		0.393	BMPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257743.1	NM_001204		3	41	1	0	0.150653	1	0.150653	3	41					T	203379699	G	T	203379699	3	4	331	1	0	0	0	0	1	0	0	0	1471	1339	47	5	636	5	BMPR2	2	203379699	Missense_Mutation	SNP	G	TCGA-KK-A7B4-01A-11D-A32B-08	117825192	203379699	39819674	10	16849	84	2									
BMPR2	659	broad.mit.edu	37	chr2	203379700	203379700	+	Nonsense_Mutation	SNP	G	G	T																															tagataatctgaaactgttgGaggtaagtttgccgttagat																										TCGA-KK-A7B4-01A-11D-A32B-08	TCGA-KK-A7B4-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48f40308-4306-49e9-95a2-2f3d5430bb1c	def273a4-201d-40ba-81ca-df45a7320547	g.chr2:203379700G>T	ENST00000374580.4	+	5	1158	c.619G>T	c.(619-621)Gag>Tag	p.E207*	BMPR2_ENST00000374574.2_Nonsense_Mutation_p.E207*	NM_001204.6	NP_001195.2	Q13873	BMPR2_HUMAN	bone morphogenetic protein receptor, type II (serine/threonine kinase)	207	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activin receptor signaling pathway (GO:0032924)|anterior/posterior pattern specification (GO:0009952)|artery development (GO:0060840)|blood vessel remodeling (GO:0001974)|BMP signaling pathway (GO:0030509)|brain development (GO:0007420)|cellular response to starvation (GO:0009267)|chondrocyte development (GO:0002063)|limb development (GO:0060173)|lung alveolus development (GO:0048286)|lymphangiogenesis (GO:0001946)|lymphatic endothelial cell differentiation (GO:0060836)|mesoderm formation (GO:0001707)|negative regulation of cell growth (GO:0030308)|negative regulation of chondrocyte proliferation (GO:1902731)|negative regulation of DNA biosynthetic process (GO:2000279)|negative regulation of systemic arterial blood pressure (GO:0003085)|negative regulation of vasoconstriction (GO:0045906)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of bone mineralization (GO:0030501)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|regulation of cell proliferation (GO:0042127)|regulation of lung blood pressure (GO:0014916)|retina vasculature development in camera-type eye (GO:0061298)|transcription from RNA polymerase II promoter (GO:0006366)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|venous blood vessel development (GO:0060841)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|caveola (GO:0005901)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|fully spanning plasma membrane (GO:0044214)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	activin receptor activity, type II (GO:0016362)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|transforming growth factor beta-activated receptor activity (GO:0005024)			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(11)|lung(7)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(2)	42						GAAACTGTTGGAGGTAAGTTT	0.388																																						ENST00000374580.4																			0				autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(11)|lung(7)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(2)	42						c.(619-621)Gag>Tag		bone morphogenetic protein receptor, type II (serine/threonine kinase)							174	148	157					2																	203379700		2203	4300	6503	SO:0001587	stop_gained	659				anterior/posterior pattern formation|BMP signaling pathway|cellular response to starvation|lung alveolus development|mesoderm formation|negative regulation of cell growth|negative regulation of systemic arterial blood pressure|negative regulation of vasoconstriction|positive regulation of BMP signaling pathway|positive regulation of bone mineralization|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of epithelial cell migration|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|regulation of lung blood pressure|transcription from RNA polymerase II promoter|vascular endothelial growth factor receptor signaling pathway	integral to plasma membrane	ATP binding|metal ion binding|transforming growth factor beta receptor activity	g.chr2:203379700G>T	Z48923	CCDS33361.1	2q33-q34	2014-09-17			ENSG00000204217	ENSG00000204217			1078	protein-coding gene	gene with protein product		600799	"primary pulmonary hypertension 1"	PPH1		7791754	Standard	NM_001204		Approved	BRK-3, T-ALK, BMPR3, BMPR-II	uc002uzf.4	Q13873	OTTHUMG00000133617	ENST00000374580.4:c.619G>T	2.37:g.203379700G>T	ENSP00000363708:p.Glu207*					BMPR2_ENST00000374574.2_Nonsense_Mutation_p.E207*	p.E207*	NM_001204.6	NP_001195.2	Q13873	BMPR2_HUMAN			5	1158	+			207			Protein kinase.		Q13161|Q16569|Q4ZG08|Q53SA5|Q585T8	Nonsense_Mutation	SNP	ENST00000374580.4	37	c.619G>T	CCDS33361.1	.	.	.	.	.	.	.	.	.	.	G	37	6.167751	0.97343	.	.	ENSG00000204217	ENST00000374580;ENST00000374574	.	.	.	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.12103	T	0.63	.	20.327	0.98704	0.0:0.0:1.0:0.0	.	.	.	.	X	207	.	ENSP00000363702:E207X	E	+	1	0	BMPR2	203087945	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	9.123000	0.94387	2.794000	0.96219	0.650000	0.86243	GAG		0.388	BMPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257743.1	NM_001204		3	39	1	0	0.150653	1	0.150653	3	39					T	203379700	G	T	203379700	4	4	331	1	0	0	0	0	0	1	0	0	1471	1175	41	5	637	5	BMPR2	2	203379700	Nonsense_Mutation	SNP	G	TCGA-KK-A7B4-01A-11D-A32B-08	1	203379700	39819673	11	16850	84	2									
C2orf24	27013	broad.mit.edu	37	chr2	220038176	220038176	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccagcctcgccaccgtccctGctgctcagccacactggggg	5	6	11	19	2	1	0	1	0	0	0	3	0	2	0	6	2	4	2	6	2	0	0			TCGA-KK-A7B4-01A-11D-A32B-08	TCGA-KK-A7B4-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48f40308-4306-49e9-95a2-2f3d5430bb1c	def273a4-201d-40ba-81ca-df45a7320547	g.chr2:220038176G>A	ENST00000409789.1	-	8	1013	c.586C>T	c.(586-588)Cag>Tag	p.Q196*	CNPPD1_ENST00000360507.5_Nonsense_Mutation_p.Q196*			Q9BV87	CNPD1_HUMAN	cyclin Pas1/PHO80 domain containing 1	196					regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)	integral component of membrane (GO:0016021)				endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)	12						CACCGTCCCTGCTGCTCAGCC	0.627																																						ENST00000409789.1																			0				endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)	12						c.(586-588)Cag>Tag		cyclin Pas1/PHO80 domain containing 1							43	42	42					2																	220038176		2203	4300	6503	SO:0001587	stop_gained	27013				regulation of cyclin-dependent protein kinase activity	integral to membrane	protein kinase binding	g.chr2:220038176G>A	AF070638	CCDS2433.1	2q36	2011-03-23	2011-03-23	2011-03-23	ENSG00000115649	ENSG00000115649			25220	protein-coding gene	gene with protein product			"chromosome 2 open reading frame 24"	C2orf24		8619474, 9110174	Standard	NM_015680		Approved	CGI-57	uc002vju.4	Q9BV87	OTTHUMG00000133132	ENST00000409789.1:c.586C>T	2.37:g.220038176G>A	ENSP00000386277:p.Gln196*					CNPPD1_ENST00000360507.5_Nonsense_Mutation_p.Q196*	p.Q196*			Q9BV87	CNPD1_HUMAN			8	1013	-			196					B2RC77|O75548|Q9H4N0|Q9UQN0	Nonsense_Mutation	SNP	ENST00000409789.1	37	c.586C>T	CCDS2433.1	.	.	.	.	.	.	.	.	.	.	G	39	7.690335	0.98434	.	.	ENSG00000115649	ENST00000360507;ENST00000409789;ENST00000453038;ENST00000451647	.	.	.	5.03	5.03	0.67393	.	0.111171	0.64402	D	0.000007	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.38643	T	0.18	-17.9237	17.2851	0.87139	0.0:0.0:1.0:0.0	.	.	.	.	X	196;196;196;223	.	ENSP00000353698:Q196X	Q	-	1	0	CNPPD1	219746420	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	9.509000	0.98002	2.607000	0.88179	0.591000	0.81541	CAG		0.627	CNPPD1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336220.1	NM_015680		14	29	0	0	0	1	0	14	29					A	220038176	G	A	220038176	4	1	331	1	0	0	0	0	0	1	0	0	2159	1328	46	3	654	3	C2orf24	2	220038176	Nonsense_Mutation	SNP	G	TCGA-KK-A7B4-01A-11D-A32B-08	16658476	220038176	23161197	12	16851											
GALNTL6	442117	broad.mit.edu	37	chr4	173873358	173873358	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atggctgctgtggcctgggaCgtgcctaaatactaccctcc	7	10	11	13	1	0	0	0	0	0	0	1	1	1	1	4	3	4	2	4	3	4	3	rs144094710		TCGA-KK-A7B4-01A-11D-A32B-08	TCGA-KK-A7B4-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48f40308-4306-49e9-95a2-2f3d5430bb1c	def273a4-201d-40ba-81ca-df45a7320547	g.chr4:173873358C>T	ENST00000506823.1	+	10	1977	c.1320C>T	c.(1318-1320)gaC>gaT	p.D440D	GALNTL6_ENST00000508122.1_Silent_p.D423D	NM_001034845.2	NP_001030017.2	Q49A17	GLTL6_HUMAN	polypeptide N-acetylgalactosaminyltransferase-like 6	440					protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(2)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	45						TGGCCTGGGACGTGCCTAAAT	0.597													c|||	0	0	0	0	5008	,	,		14218	0		0	False		,,,				2504	0					ENST00000506823.1																			0				breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(2)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	45						c.(1318-1320)gaC>gaT		UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 6		C		1,4405	2.1+/-5.4	0,1,2202	57	53	54		1320	-6.7	0.7	4	dbSNP_134	54	0,8600		0,0,4300	no	coding-synonymous	GALNTL6	NM_001034845.2		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		440/602	173873358	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	442117					Golgi membrane|integral to membrane	metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr4:173873358C>T		CCDS34104.1	4q34.1	2014-03-13	2014-03-13		ENSG00000174473	ENSG00000174473		"Glycosyltransferase family 2 domain containing"	33844	protein-coding gene	gene with protein product	"polypeptide GalNAc transferase-like 6"	615138	"UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 6"				Standard	NM_001034845		Approved	GALNT17, GalNAc-T6L	uc003isv.3	Q49A17	OTTHUMG00000160807	ENST00000506823.1:c.1320C>T	4.37:g.173873358C>T						GALNTL6_ENST00000508122.1_Silent_p.D423D	p.D440D	NM_001034845.2	NP_001030017.2	Q49A17	GLTL6_HUMAN			10	1977	+			440					Q2L4S6	Silent	SNP	ENST00000506823.1	37	c.1320C>T	CCDS34104.1																																																																																				0.597	GALNTL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362395.1	NM_001034845		9	8	0	0	0	1	0	9	8					T	173873358	C	T	173873358	2	4	331	1	0	0	0	0	0	0	0	1	6225	535	19	1		1	GALNTL6	4	173873358	Silent	SNP	C	TCGA-KK-A7B4-01A-11D-A32B-08		173873358	17280918	13	16852											
FYB	2533	broad.mit.edu	37	chr5	39119724	39119724	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgtcttagcttttccaacAttagttccttgactagaacg	9	16	6	10	1	2	2	0	1	2	1	4	2	4	2	2	0	3	2	2	0	5	7			TCGA-KK-A7B4-01A-11D-A32B-08	TCGA-KK-A7B4-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48f40308-4306-49e9-95a2-2f3d5430bb1c	def273a4-201d-40ba-81ca-df45a7320547	g.chr5:39119724A>G	ENST00000351578.6	-	14	2203	c.2013T>C	c.(2011-2013)aaT>aaC	p.N671N	FYB_ENST00000505428.1_Silent_p.N717N|FYB_ENST00000512982.1_Silent_p.N717N|FYB_ENST00000540520.1_Silent_p.N727N|FYB_ENST00000515010.1_Silent_p.N671N	NM_199335.3	NP_955367.1	O15117	FYB_HUMAN	FYN binding protein	671					immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|NLS-bearing protein import into nucleus (GO:0006607)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)|T cell receptor signaling pathway (GO:0050852)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|nucleus (GO:0005634)	receptor binding (GO:0005102)			endometrium(2)|kidney(4)|large_intestine(6)|liver(1)|lung(29)|ovary(2)|upper_aerodigestive_tract(1)	45	all_lung(31;0.000343)		Epithelial(62;0.235)			CTTTTCCAACATTAGTTCCTT	0.308																																						ENST00000351578.6																			0				endometrium(2)|kidney(4)|large_intestine(6)|liver(1)|lung(29)|ovary(2)|upper_aerodigestive_tract(1)	45						c.(2011-2013)aaT>aaC		FYN binding protein							71	50	56					5																	39119724		1792	4031	5823	SO:0001819	synonymous_variant	2533				cell junction assembly|immune response|intracellular protein kinase cascade|NLS-bearing substrate import into nucleus|protein phosphorylation|T cell receptor signaling pathway	cytosol|nucleus	protein binding	g.chr5:39119724A>G	U93049	CCDS47200.1, CCDS54848.1	5p13.1	2012-05-04	2010-05-04		ENSG00000082074	ENSG00000082074			4036	protein-coding gene	gene with protein product		602731	"FYN-binding protein (FYB-120/130)"			9115214, 9207119	Standard	NM_001465		Approved	SLAP-130, FYB-120/130	uc011cpl.2	O15117	OTTHUMG00000162071	ENST00000351578.6:c.2013T>C	5.37:g.39119724A>G						FYB_ENST00000512982.1_Silent_p.N717N|FYB_ENST00000515010.1_Silent_p.N671N|FYB_ENST00000505428.1_Silent_p.N717N|FYB_ENST00000540520.1_Silent_p.N727N	p.N671N	NM_199335.3	NP_955367.1	O15117	FYB_HUMAN	Epithelial(62;0.235)		14	2203	-	all_lung(31;0.000343)		671					A8K2Y8|B4DLN2|E9PBV9|O00359|Q9NZI9	Silent	SNP	ENST00000351578.6	37	c.2013T>C	CCDS47200.1																																																																																				0.308	FYB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000367098.1	NM_001465		3	3	0	0	0	1	0	3	3					G	39119724	A	G	39119724	2	3	331	1	0	0	0	0	0	0	0	1	6124	214	8	4		4	FYB	5	39119724	Silent	SNP	A	TCGA-KK-A7B4-01A-11D-A32B-08		39119724	141795536	14	16853											
NUP153	9972	broad.mit.edu	37	chr6	17648120	17648120	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgggactgccagtgctgctcGgagaggtcatttgtacctgg	6	11	15	9	1	1	1	1	0	0	1	2	3	1	2	2	4	4	3	2	4	1	2			TCGA-KK-A7B4-01A-11D-A32B-08	TCGA-KK-A7B4-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48f40308-4306-49e9-95a2-2f3d5430bb1c	def273a4-201d-40ba-81ca-df45a7320547	g.chr6:17648120G>A	ENST00000262077.2	-	13	1549	c.1550C>T	c.(1549-1551)cCg>cTg	p.P517L	NUP153_ENST00000537253.1_Missense_Mutation_p.P548L	NM_005124.2	NP_005115.2	P49790	NU153_HUMAN	nucleoporin 153kDa	517					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|negative regulation of RNA export from nucleus (GO:0046832)|nuclear pore complex assembly (GO:0051292)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral entry into host cell (GO:0046718)|viral penetration into host nucleus (GO:0075732)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|nucleocytoplasmic transporter activity (GO:0005487)|protein anchor (GO:0043495)|structural constituent of nuclear pore (GO:0017056)|transporter activity (GO:0005215)|zinc ion binding (GO:0008270)			NS(2)|breast(6)|endometrium(4)|kidney(3)|large_intestine(7)|lung(23)|ovary(3)|skin(3)|urinary_tract(2)	53	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.125)	all cancers(50;0.0981)|Epithelial(50;0.112)			AGTGCTGCTCGGAGAGGTCAT	0.348																																						ENST00000262077.2																			0				NS(2)|breast(6)|endometrium(4)|kidney(3)|large_intestine(7)|lung(23)|ovary(3)|skin(3)|urinary_tract(2)	53						c.(1549-1551)cCg>cTg		nucleoporin 153kDa							119	121	120					6																	17648120		2203	4300	6503	SO:0001583	missense	9972				carbohydrate metabolic process|glucose transport|interspecies interaction between organisms|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytoplasm|nuclear membrane|nuclear pore|nucleolus|nucleoplasm	DNA binding|protein binding|transporter activity|zinc ion binding	g.chr6:17648120G>A	Z25535	CCDS4541.1, CCDS64359.1, CCDS75407.1	6p22.3	2008-07-29	2002-08-29		ENSG00000124789	ENSG00000124789			8062	protein-coding gene	gene with protein product		603948	"nucleoporin 153kD"			8110839	Standard	NM_001278209		Approved	HNUP153	uc003ncd.2	P49790	OTTHUMG00000014312	ENST00000262077.2:c.1550C>T	6.37:g.17648120G>A	ENSP00000262077:p.Pro517Leu					NUP153_ENST00000537253.1_Missense_Mutation_p.P548L	p.P517L	NM_005124.2	NP_005115.2	P49790	NU153_HUMAN	all cancers(50;0.0981)|Epithelial(50;0.112)		13	1549	-	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.125)	517					B4DIK2|E7EPX5|F6QR24|Q4LE47|Q5T9I7|Q7Z743	Missense_Mutation	SNP	ENST00000262077.2	37	c.1550C>T	CCDS4541.1	.	.	.	.	.	.	.	.	.	.	G	4.106	0.017743	0.07959	.	.	ENSG00000124789	ENST00000262077;ENST00000430136;ENST00000537253	T;T	0.06933	3.24;3.24	5.76	3.03	0.35002	Nucleoporin, Nup153-like (1);	0.285799	0.25019	N	0.033764	T	0.02304	0.0071	L	0.41824	1.3	0.40575	D	0.981332	B;B;B	0.20459	0.001;0.045;0.009	B;B;B	0.14578	0.002;0.011;0.004	T	0.39643	-0.9604	10	0.20046	T	0.44	-0.0265	9.0106	0.36139	0.2295:0.0:0.7705:0.0	.	548;539;517	F6QR24;Q4LE47;P49790	.;.;NU153_HUMAN	L	517;539;548	ENSP00000262077:P517L;ENSP00000444029:P548L	ENSP00000262077:P517L	P	-	2	0	NUP153	17756099	0.984000	0.35163	0.396000	0.26296	0.073000	0.16967	2.068000	0.41471	0.361000	0.24292	-0.269000	0.10298	CCG		0.348	NUP153-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039953.1			5	106	0	0	0	1	0	5	106					A	17648120	G	A	17648120	3	1	331	1	0	0	0	0	1	0	0	0	10755	1116	39	2	2917	2	NUP153	6	17648120	Missense_Mutation	SNP	G	TCGA-KK-A7B4-01A-11D-A32B-08		17648120	153466947	15	16854											
HIST1H4B	8366	broad.mit.edu	37	chr6	26027375	26027375	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	accacgcctagcaaggcgccGaatggccggtttggtgatgc	8	7	14	12	4	0	1	0	1	0	0	0	2	0	1	4	4	2	2	4	4	3	2			TCGA-KK-A7B4-01A-11D-A32B-08	TCGA-KK-A7B4-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48f40308-4306-49e9-95a2-2f3d5430bb1c	def273a4-201d-40ba-81ca-df45a7320547	g.chr6:26027375G>A	ENST00000377364.3	-	1	105	c.106C>T	c.(106-108)Cgg>Tgg	p.R36W		NM_003544.2	NP_003535.1	P62805	H4_HUMAN	histone cluster 1, H4b	36					CENP-A containing nucleosome assembly (GO:0034080)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|histone H4-K20 demethylation (GO:0035574)|mitotic cell cycle (GO:0000278)|negative regulation of megakaryocyte differentiation (GO:0045653)|nucleosome assembly (GO:0006334)|telomere maintenance (GO:0000723)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|histone demethylase activity (H4-K20 specific) (GO:0035575)|poly(A) RNA binding (GO:0044822)			large_intestine(4)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)	13						GCAAGGCGCCGAATGGCCGGT	0.552																																						ENST00000377364.3																			0				large_intestine(4)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)	13						c.(106-108)Cgg>Tgg		histone cluster 1, H4b							66	59	62					6																	26027375		2203	4300	6503	SO:0001583	missense	8366				CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding	g.chr6:26027375G>A	X67081	CCDS4572.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000124529	ENSG00000278705		"Histones / Replication-dependent"	4789	protein-coding gene	gene with protein product		602829	"H4 histone family, member I", "histone 1, H4b"	H4FI		9119399, 12408966	Standard	NM_003544		Approved	H4/I	uc003nfr.3	P62805	OTTHUMG00000014417	ENST00000377364.3:c.106C>T	6.37:g.26027375G>A	ENSP00000366581:p.Arg36Trp						p.R36W	NM_003544.2	NP_003535.1	P62805	H4_HUMAN			1	105	-			36					A2VCL0|P02304|P02305|Q6DRA9|Q6FGB8|Q6NWP7	Missense_Mutation	SNP	ENST00000377364.3	37	c.106C>T	CCDS4572.1	.	.	.	.	.	.	.	.	.	.	g	16.91	3.253696	0.59212	.	.	ENSG00000124529	ENST00000377364	T	0.69561	-0.41	4.65	3.75	0.43078	.	0.000000	0.52532	U	0.000066	T	0.70211	0.3198	.	.	.	0.44417	D	0.997336	.	.	.	.	.	.	T	0.75889	-0.3158	7	0.87932	D	0	.	13.6106	0.62076	0.0:0.0:0.8432:0.1568	.	.	.	.	W	36	ENSP00000366581:R36W	ENSP00000366581:R36W	R	-	1	2	HIST1H4B	26135354	1.000000	0.71417	0.927000	0.36925	0.010000	0.07245	6.370000	0.73114	1.200000	0.43188	0.563000	0.77884	CGG		0.552	HIST1H4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040079.2	NM_003544		4	56	0	0	0	1	0	4	56					A	26027375	G	A	26027375	3	1	331	1	0	0	0	0	1	0	0	0	7166	1057	37	2	209	2	HIST1H4B	6	26027375	Missense_Mutation	SNP	G	TCGA-KK-A7B4-01A-11D-A32B-08	8379255	26027375	145087692	16	16855											
SUN3	256979	broad.mit.edu	37	chr7	48046774	48046774	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tccaggacctctgtgtggtcCgggtcctccacagggtctcc	4	10	12	15	1	2	0	0	0	2	0	7	1	6	1	6	4	0	0	6	4	0	0	rs150352113	byFrequency	TCGA-KK-A7B4-01A-11D-A32B-08	TCGA-KK-A7B4-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48f40308-4306-49e9-95a2-2f3d5430bb1c	def273a4-201d-40ba-81ca-df45a7320547	g.chr7:48046774C>T	ENST00000297325.4	-	5	639	c.480G>A	c.(478-480)ccG>ccA	p.P160P	SUN3_ENST00000453192.2_Silent_p.P148P|SUN3_ENST00000395572.2_Silent_p.P160P|SUN3_ENST00000412142.1_Silent_p.P60P	NM_001030019.1	NP_001025190.1	Q8TAQ9	SUN3_HUMAN	Sad1 and UNC84 domain containing 3	160						integral component of membrane (GO:0016021)|SUN-KASH complex (GO:0034993)				central_nervous_system(1)|endometrium(3)|large_intestine(8)|liver(1)|lung(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						CTGTGTGGTCCGGGTCCTCCA	0.552													C|||	2	0.000399361	0	0.0014	5008	,	,		16503	0.001		0	False		,,,				2504	0					ENST00000453192.2																			0				central_nervous_system(1)|endometrium(3)|large_intestine(8)|liver(1)|lung(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						c.(442-444)ccG>ccA		Sad1 and UNC84 domain containing 3		C	,	1,4405	2.1+/-5.4	0,1,2202	102	100	100		480,480	0.5	0	7	dbSNP_134	100	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	SUN3	NM_001030019.1,NM_152782.3	,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,	160/358,160/358	48046774	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	256979					integral to membrane		g.chr7:48046774C>T	AF429967	CCDS34636.1, CCDS64647.1	7p12.3	2010-01-27	2010-01-27	2010-01-27	ENSG00000164744	ENSG00000164744			22429	protein-coding gene	gene with protein product			"Sad1 and UNC84 domain containing 1"	SUNC1			Standard	NM_001284350		Approved	MGC33329	uc003tof.3	Q8TAQ9	OTTHUMG00000155646	ENST00000297325.4:c.480G>A	7.37:g.48046774C>T						SUN3_ENST00000395572.2_Silent_p.P160P|SUN3_ENST00000412142.1_Silent_p.P60P|SUN3_ENST00000297325.4_Silent_p.P160P	p.P148P			Q8TAQ9	SUN3_HUMAN			6	687	-			160					A4D2F3|B4DXK1|D3DVM3|E7EWC8|Q4F965|Q7Z4U8	Silent	SNP	ENST00000297325.4	37	c.444G>A	CCDS34636.1	2	9.157509157509158E-4	0	0.0	1	0.0027624309392265192	1	0.0017482517482517483	0	0.0	C	3.303	-0.142565	0.06669	2.27E-4	0.0	ENSG00000164744	ENST00000453071	.	.	.	5.45	0.472	0.16758	.	.	.	.	.	T	0.34513	0.0900	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.29488	-1.0010	4	.	.	.	.	9.2277	0.37416	0.0:0.6636:0.0:0.3364	.	.	.	.	Q	80	.	.	R	-	2	0	SUN3	48013299	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.166000	0.09954	0.268000	0.21939	-1.063000	0.02288	CGG		0.552	SUN3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340962.1	NM_152782		16	22	0	0	0	1	0	16	22					T	48046774	C	T	48046774	2	4	331	1	0	0	0	0	0	0	0	1	15390	639	23	2		2	SUN3	7	48046774	Silent	SNP	C	TCGA-KK-A7B4-01A-11D-A32B-08		48046774	111091889	17	16856											
LMTK2	22853	broad.mit.edu	37	chr7	97788717	97788720	+	Frame_Shift_Del	DEL	GTGT	GTGT	-																															aagcgattccctacctcctgGtgtttgagttctgtgacttg																										TCGA-KK-A7B4-01A-11D-A32B-08	TCGA-KK-A7B4-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48f40308-4306-49e9-95a2-2f3d5430bb1c	def273a4-201d-40ba-81ca-df45a7320547	g.chr7:97788717_97788720delGTGT	ENST00000297293.5	+	6	930_933	c.637_640delGTGT	c.(637-642)gtgtttfs	p.VF213fs		NM_014916.3	NP_055731.2	Q8IWU2	LMTK2_HUMAN	lemur tyrosine kinase 2	213	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				early endosome to late endosome transport (GO:0045022)|endocytic recycling (GO:0032456)|negative regulation of catalytic activity (GO:0043086)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|receptor recycling (GO:0001881)|transferrin transport (GO:0033572)	early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)	ATP binding (GO:0005524)|myosin VI binding (GO:0070853)|protein phosphatase inhibitor activity (GO:0004864)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3)	59	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)					CTACCTCCTGGTGTTTGAGTTCTG	0.412																																						ENST00000297293.5																			0				NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3)	59						c.(637-642)ttfs		lemur tyrosine kinase 2																																				SO:0001589	frameshift_variant	22853				early endosome to late endosome transport|endocytic recycling|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation|receptor recycling|transferrin transport	early endosome|Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|recycling endosome	ATP binding|myosin VI binding|protein phosphatase inhibitor activity|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr7:97788717_97788720delGTGT	AB029002	CCDS5654.1	7q22.1	2014-06-12			ENSG00000164715	ENSG00000164715			17880	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 100"	610989				15005709	Standard	NM_014916		Approved	KIAA1079, KPI2, KPI-2, cprk, LMR2, BREK, AATYK2, PPP1R100	uc003upd.2	Q8IWU2	OTTHUMG00000154256	ENST00000297293.5:c.637_640delGTGT	7.37:g.97788717_97788720delGTGT	ENSP00000297293:p.Val213fs						p.VF213fs	NM_014916.3	NP_055731.2	Q8IWU2	LMTK2_HUMAN			6	930_933	+	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)		213			Protein kinase.		A4D272|Q75MG7|Q9UPS3	Frame_Shift_Del	DEL	ENST00000297293.5	37	c.637_640delGTGT	CCDS5654.1																																																																																				0.412	LMTK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334560.1	NM_014916		31	121						31	121	---	---	---	---	-	97788720	GTGT	-	97788717	7	5	331	1	0	1	0	1	0	0	0	0	8859	1261	44	0	659	0	LMTK2	7	97788717	Frame_Shift_Del	DEL	GTGT	TCGA-KK-A7B4-01A-11D-A32B-08	49741943	97788717	61349946	18	16857											
CNOT7	29883	broad.mit.edu	37	chr8	17089971	17089971	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aaaggccattcctgtgagcaAtgaatcagatcctgcctgat	12	10	9	10	0	1	4	1	3	0	1	3	4	3	4	4	1	2	1	4	1	3	1	rs540765184	byFrequency	TCGA-KK-A7B4-01A-11D-A32B-08	TCGA-KK-A7B4-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48f40308-4306-49e9-95a2-2f3d5430bb1c	def273a4-201d-40ba-81ca-df45a7320547	g.chr8:17089971A>G	ENST00000361272.4	-	6	992	c.694T>C	c.(694-696)Ttg>Ctg	p.L232L	CNOT7_ENST00000523917.1_Silent_p.L232L	NM_013354.5	NP_037486.2	Q9UIV1	CNOT7_HUMAN	CCR4-NOT transcription complex, subunit 7	232					carbohydrate metabolic process (GO:0005975)|cytoplasmic mRNA processing body assembly (GO:0033962)|deadenylation-dependent decapping of nuclear-transcribed mRNA (GO:0000290)|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|gene silencing by miRNA (GO:0035195)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|negative regulation of cell proliferation (GO:0008285)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of cell proliferation (GO:0008284)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	CCR4-NOT complex (GO:0030014)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	3'-5'-exoribonuclease activity (GO:0000175)|exoribonuclease activity (GO:0004532)|metal ion binding (GO:0046872)|poly(A)-specific ribonuclease activity (GO:0004535)|RNA binding (GO:0003723)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)	11				Colorectal(111;0.0523)|COAD - Colon adenocarcinoma(73;0.209)		CCTGTGAGCAATGAATCAGAT	0.403													A|||	3	0.000599042	0	0	5008	,	,		17368	0.003		0	False		,,,				2504	0					ENST00000361272.4																			0				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)	11						c.(694-696)Ttg>Ctg		CCR4-NOT transcription complex, subunit 7							196	190	192					8																	17089971		2203	4300	6503	SO:0001819	synonymous_variant	29883				carbohydrate metabolic process|nuclear-transcribed mRNA poly(A) tail shortening	CCR4-NOT complex|cytoplasmic mRNA processing body|cytosol	nucleic acid binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr8:17089971A>G	L46722	CCDS6000.2, CCDS55202.1	8p22-p21.3	2008-08-07			ENSG00000198791	ENSG00000198791			14101	protein-coding gene	gene with protein product	"BTG1 binding factor 1"	604913		CAF1		10637334, 1538749, 17264152	Standard	XM_005273481		Approved		uc003wxg.1	Q9UIV1	OTTHUMG00000096971	ENST00000361272.4:c.694T>C	8.37:g.17089971A>G						CNOT7_ENST00000523917.1_Silent_p.L232L	p.L232L	NM_013354.5	NP_037486.2	Q9UIV1	CNOT7_HUMAN		Colorectal(111;0.0523)|COAD - Colon adenocarcinoma(73;0.209)	6	992	-			232					A8MZM5|B3KMP1|B3KN35|D3DSP6|G3V108|Q7Z530	Silent	SNP	ENST00000361272.4	37	c.694T>C	CCDS6000.2																																																																																				0.403	CNOT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214038.1	NM_013354		42	54	0	0	0	1	0	42	54					G	17089971	A	G	17089971	2	3	331	1	0	0	0	0	0	0	0	1	3624	98	4	4		4	CNOT7	8	17089971	Silent	SNP	A	TCGA-KK-A7B4-01A-11D-A32B-08		17089971	129274051	19	16858											
TRIM35	23087	broad.mit.edu	37	chr8	27151801	27151801	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ttatcaaactcctgccggatCcggccttccagccatgcagc	8	9	8	16	2	1	0	1	0	0	0	4	1	4	1	6	2	5	1	6	2	2	2			TCGA-KK-A7B4-01A-11D-A32B-08	TCGA-KK-A7B4-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48f40308-4306-49e9-95a2-2f3d5430bb1c	def273a4-201d-40ba-81ca-df45a7320547	g.chr8:27151801C>A	ENST00000305364.4	-	3	641	c.558G>T	c.(556-558)cgG>cgT	p.R186R	TRIM35_ENST00000521253.1_Silent_p.R154R	NM_171982.3	NP_741983.2	Q9UPQ4	TRI35_HUMAN	tripartite motif containing 35	186					apoptotic process (GO:0006915)|innate immune response (GO:0045087)|negative regulation of cell proliferation (GO:0008285)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of viral release from host cell (GO:1902187)|positive regulation of apoptotic process (GO:0043065)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(1)|endometrium(6)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)	14		Ovarian(32;2.61e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0213)|Epithelial(17;9.34e-10)|Colorectal(74;0.141)		CCTGCCGGATCCGGCCTTCCA	0.562																																						ENST00000305364.4																			0				breast(1)|endometrium(6)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)	14						c.(556-558)cgG>cgT		tripartite motif containing 35							38	34	35					8																	27151801		2203	4300	6503	SO:0001819	synonymous_variant	23087				apoptosis|induction of apoptosis|negative regulation of mitotic cell cycle	cytoplasm|nucleus	zinc ion binding	g.chr8:27151801C>A	AB029021	CCDS6056.2	8p21.2	2013-01-09	2011-01-25		ENSG00000104228	ENSG00000104228		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	16285	protein-coding gene	gene with protein product			"tripartite motif-containing 35"			11331580, 14662771, 12692137	Standard	XM_005273451		Approved	KIAA1098, MAIR, HLS5	uc003xfl.1	Q9UPQ4	OTTHUMG00000102047	ENST00000305364.4:c.558G>T	8.37:g.27151801C>A						TRIM35_ENST00000521253.1_Silent_p.R154R	p.R186R	NM_171982.3	NP_741983.2	Q9UPQ4	TRI35_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0213)|Epithelial(17;9.34e-10)|Colorectal(74;0.141)	3	641	-		Ovarian(32;2.61e-05)	186					Q86XQ0|Q8WVA4	Silent	SNP	ENST00000305364.4	37	c.558G>T	CCDS6056.2																																																																																				0.562	TRIM35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219848.2	NM_171982		3	20	1	0	0.004672	1	0.00494682	3	20					A	27151801	C	A	27151801	2	1	331	1	0	0	0	0	0	0	0	1	16506	842	30	5		5	TRIM35	8	27151801	Silent	SNP	C	TCGA-KK-A7B4-01A-11D-A32B-08	10061830	27151801	119212221	20	16859											
XKR4	114786	broad.mit.edu	37	chr8	56436082	56436082	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcatcatgaccttctggatcGtccactgtgagacagaattc	10	11	9	11	1	2	3	1	2	1	2	5	5	3	4	2	1	0	1	2	1	1	2			TCGA-KK-A7B4-01A-11D-A32B-08	TCGA-KK-A7B4-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48f40308-4306-49e9-95a2-2f3d5430bb1c	def273a4-201d-40ba-81ca-df45a7320547	g.chr8:56436082G>A	ENST00000327381.6	+	3	1349	c.1249G>A	c.(1249-1251)Gtc>Atc	p.V417I	RP11-628E19.2_ENST00000522918.1_RNA	NM_052898.1	NP_443130.1	Q5GH76	XKR4_HUMAN	XK, Kell blood group complex subunit-related family, member 4	417						integral component of membrane (GO:0016021)				NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34			Epithelial(17;0.000117)|all cancers(17;0.000836)			CTTCTGGATCGTCCACTGTGA	0.483																																						ENST00000327381.5																			0				NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34						c.(1249-1251)Gtc>Atc		XK, Kell blood group complex subunit-related family, member 4							277	236	250					8																	56436082		2203	4300	6503	SO:0001583	missense	114786					integral to membrane		g.chr8:56436082G>A	AY534241	CCDS34893.1	8q12.1	2006-01-12	2006-01-12		ENSG00000206579	ENSG00000206579			29394	protein-coding gene	gene with protein product			"X Kell blood group precursor-related family, member 4"				Standard	NM_052898		Approved	KIAA1889	uc003xsf.3	Q5GH76	OTTHUMG00000164288	ENST00000327381.6:c.1249G>A	8.37:g.56436082G>A	ENSP00000328326:p.Val417Ile						p.V417I	NM_052898.1	NP_443130.1	Q5GH76	XKR4_HUMAN	Epithelial(17;0.000117)|all cancers(17;0.000836)		3	1349	+			417					Q96PZ8	Missense_Mutation	SNP	ENST00000327381.6	37	c.1249G>A	CCDS34893.1	.	.	.	.	.	.	.	.	.	.	G	10.65	1.409707	0.25465	.	.	ENSG00000206579	ENST00000327381;ENST00000543752	T	0.62232	0.04	5.56	5.56	0.83823	.	0.055983	0.64402	D	0.000001	T	0.49457	0.1558	N	0.11724	0.165	0.58432	D	0.99999	P	0.52170	0.951	P	0.48270	0.572	T	0.48525	-0.9028	10	0.02654	T	1	-6.8011	19.5149	0.95159	0.0:0.0:1.0:0.0	.	417	Q5GH76	XKR4_HUMAN	I	417	ENSP00000328326:V417I	ENSP00000328326:V417I	V	+	1	0	XKR4	56598636	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.062000	0.89475	2.618000	0.88619	0.557000	0.71058	GTC		0.483	XKR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378129.2	NM_052898		67	135	0	0	0	1	0	67	135					A	56436082	G	A	56436082	3	1	331	1	0	0	0	0	1	0	0	0	17430	1145	40	1	1259	1	XKR4	8	56436082	Missense_Mutation	SNP	G	TCGA-KK-A7B4-01A-11D-A32B-08	29284281	56436082	89927940	21	16860											
FAM135B	51059	broad.mit.edu	37	chr8	139190874	139190874	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacagagtcatcatgtgggaCgtgagccaggccagatcctt	10	8	12	11	1	2	3	2	1	0	2	3	4	3	4	3	2	1	0	3	2	0	1	rs376834770		TCGA-KK-A7B4-01A-11D-A32B-08	TCGA-KK-A7B4-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48f40308-4306-49e9-95a2-2f3d5430bb1c	def273a4-201d-40ba-81ca-df45a7320547	g.chr8:139190874C>T	ENST00000395297.1	-	10	1103	c.933G>A	c.(931-933)acG>acA	p.T311T		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	311										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			TCATGTGGGACGTGAGCCAGG	0.527										HNSCC(54;0.14)																												ENST00000395297.1																			0				NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238						c.(931-933)acG>acA		family with sequence similarity 135, member B							144	142	143					8																	139190874		2059	4195	6254	SO:0001819	synonymous_variant	51059							g.chr8:139190874C>T	AB196635	CCDS6375.2	8q24.23	2008-11-05			ENSG00000147724	ENSG00000147724			28029	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_015912		Approved	C8ORFK32	uc003yuy.3	Q49AJ0	OTTHUMG00000149864	ENST00000395297.1:c.933G>A	8.37:g.139190874C>T		HNSCC(54;0.14)					p.T311T	NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0805)		10	1103	-	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		311					B5MDB3|O95879|Q2WGJ7|Q3KP46	Silent	SNP	ENST00000395297.1	37	c.933G>A	CCDS6375.2																																																																																				0.527	FAM135B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313590.3	NM_015912		13	37	0	0	0	1	0	13	37					T	139190874	C	T	139190874	2	4	331	1	0	0	0	0	0	0	0	1	5449	523	19	1		1	FAM135B	8	139190874	Silent	SNP	C	TCGA-KK-A7B4-01A-11D-A32B-08	82754792	139190874	7173148	22	16861											
OR13C3	138803	broad.mit.edu	37	chr9	107298274	107298274	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atatgatcaccacagtcaggTgagctgagcacgtggaaaat	14	8	11	8	1	2	3	2	3	0	0	2	4	2	4	1	2	2	2	1	2	3	1			TCGA-KK-A7B4-01A-11D-A32B-08	TCGA-KK-A7B4-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48f40308-4306-49e9-95a2-2f3d5430bb1c	def273a4-201d-40ba-81ca-df45a7320547	g.chr9:107298274T>A	ENST00000374781.2	-	1	863	c.821A>T	c.(820-822)cAc>cTc	p.H274L		NM_001001961.1	NP_001001961.1	Q8NGS6	O13C3_HUMAN	olfactory receptor, family 13, subfamily C, member 3	274						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|large_intestine(7)|lung(7)|pancreas(1)|prostate(1)|skin(1)	19						CACAGTCAGGTGAGCTGAGCA	0.423																																					GBM(86;1248 1274 14222 15028 46219)	ENST00000374781.2																			0				endometrium(2)|large_intestine(7)|lung(7)|pancreas(1)|prostate(1)|skin(1)	19						c.(820-822)cAc>cTc		olfactory receptor, family 13, subfamily C, member 3							134	126	128					9																	107298274		2203	4300	6503	SO:0001583	missense	138803				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:107298274T>A		CCDS35089.1	9q31.1	2013-09-24			ENSG00000204246	ENSG00000204246		"GPCR / Class A : Olfactory receptors"	14704	protein-coding gene	gene with protein product							Standard	NM_001001961		Approved		uc004bcb.1	Q8NGS6	OTTHUMG00000020406	ENST00000374781.2:c.821A>T	9.37:g.107298274T>A	ENSP00000363913:p.His274Leu						p.H274L	NM_001001961.1	NP_001001961.1	Q8NGS6	O13C3_HUMAN			1	863	-			274					Q5VVG1|Q6IF52	Missense_Mutation	SNP	ENST00000374781.2	37	c.821A>T	CCDS35089.1	.	.	.	.	.	.	.	.	.	.	T	21.8	4.195359	0.78902	.	.	ENSG00000204246	ENST00000374781	T	0.00307	8.17	4.54	4.54	0.55810	GPCR, rhodopsin-like superfamily (1);	0.000000	0.47455	D	0.000223	T	0.01489	0.0048	H	0.99726	4.73	0.42855	D	0.994091	D	0.89917	1.0	D	0.77004	0.989	T	0.01015	-1.1480	10	0.87932	D	0	.	12.1618	0.54107	0.0:0.0:0.0:1.0	.	274	Q8NGS6	O13C3_HUMAN	L	274	ENSP00000363913:H274L	ENSP00000363913:H274L	H	-	2	0	OR13C3	106338095	1.000000	0.71417	0.926000	0.36857	0.979000	0.70002	7.745000	0.85046	2.030000	0.59900	0.533000	0.62120	CAC		0.423	OR13C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053477.2			54	108	0	0	0	1	0	54	108					A	107298274	T	A	107298274	3	1	331	1	0	0	0	0	1	0	0	0	10935	1696	59	5	226	5	OR13C3	9	107298274	Missense_Mutation	SNP	T	TCGA-KK-A7B4-01A-11D-A32B-08		107298274	33915157	23	16862											
SLC39A12	221074	broad.mit.edu	37	chr10	18250534	18250534	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttgaaccagatgcactattaCtaatagctggaggaaatttt	14	13	8	6	0	0	2	0	1	0	1	0	4	0	4	1	2	4	2	1	2	6	7			TCGA-KK-A7B4-01A-11D-A32B-08	TCGA-KK-A7B4-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48f40308-4306-49e9-95a2-2f3d5430bb1c	def273a4-201d-40ba-81ca-df45a7320547	g.chr10:18250534C>A	ENST00000377369.2	+	3	559	c.286C>A	c.(286-288)Cta>Ata	p.L96I	SLC39A12_ENST00000539911.1_5'UTR|SLC39A12_ENST00000377371.3_Missense_Mutation_p.L96I|SLC39A12_ENST00000377374.4_Missense_Mutation_p.L96I	NM_001145195.1|NM_001282733.1|NM_001282734.1	NP_001138667.1|NP_001269662.1|NP_001269663.1	Q504Y0	S39AC_HUMAN	solute carrier family 39 (zinc transporter), member 12	96					regulation of microtubule polymerization (GO:0031113)|regulation of neuron projection development (GO:0010975)|signal transduction (GO:0007165)|zinc ion transmembrane import (GO:0071578)	integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	zinc ion transmembrane transporter activity (GO:0005385)			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(5)|lung(38)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	60						TGCACTATTACTAATAGCTGG	0.373																																						ENST00000377369.2																			0				NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(5)|lung(38)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	60						c.(286-288)Cta>Ata		solute carrier family 39 (zinc transporter), member 12							72	76	75					10																	18250534		2203	4300	6503	SO:0001583	missense	221074				zinc ion transport	integral to membrane	metal ion transmembrane transporter activity	g.chr10:18250534C>A		CCDS7124.1, CCDS44362.1, CCDS60493.1, CCDS60494.1	10p12.33	2013-05-22			ENSG00000148482	ENSG00000148482		"Solute carriers"	20860	protein-coding gene	gene with protein product		608734	"solute carrier family 39 (metal ion transporter), member 12"			12659941	Standard	NM_152725		Approved	FLJ30499	uc001ipo.2	Q504Y0	OTTHUMG00000017759	ENST00000377369.2:c.286C>A	10.37:g.18250534C>A	ENSP00000366586:p.Leu96Ile					SLC39A12_ENST00000377374.4_Missense_Mutation_p.L96I|SLC39A12_ENST00000539911.1_5'UTR|SLC39A12_ENST00000377371.3_Missense_Mutation_p.L96I	p.L96I	NM_001145195.1	NP_001138667.1	Q504Y0	S39AC_HUMAN			3	559	+			96					B7ZL35|C9JJL4|Q49AN8|Q4G0L3|Q5VWV8|Q5VWV9|Q6NZY5|Q96NN4	Missense_Mutation	SNP	ENST00000377369.2	37	c.286C>A	CCDS44362.1	.	.	.	.	.	.	.	.	.	.	C	15.92	2.973826	0.53720	.	.	ENSG00000148482	ENST00000377369;ENST00000377374;ENST00000377371;ENST00000425219	T;T;T	0.22945	1.93;1.93;1.93	5.43	4.53	0.55603	.	0.360360	0.28453	N	0.015284	T	0.39835	0.1093	M	0.72118	2.19	0.80722	D	1	D;D;D	0.58268	0.982;0.969;0.982	P;P;P	0.56751	0.805;0.643;0.703	T	0.17684	-1.0361	10	0.34782	T	0.22	-9.8413	8.4778	0.33023	0.0:0.7691:0.0:0.2309	.	96;96;96	Q504Y0-4;Q504Y0;Q504Y0-3	.;S39AC_HUMAN;.	I	96;96;96;16	ENSP00000366586:L96I;ENSP00000366591:L96I;ENSP00000366588:L96I	ENSP00000366586:L96I	L	+	1	2	SLC39A12	18290540	1.000000	0.71417	0.992000	0.48379	0.971000	0.66376	1.028000	0.30128	1.285000	0.44548	0.650000	0.86243	CTA		0.373	SLC39A12-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_152725		36	61	1	0	1.04594e-18	1	1.22784e-18	36	61					A	18250534	C	A	18250534	3	1	331	1	0	0	0	0	1	0	0	0	14615	564	20	5	292	5	SLC39A12	10	18250534	Missense_Mutation	SNP	C	TCGA-KK-A7B4-01A-11D-A32B-08		18250534	117284213	24	16863											
RET	5979	broad.mit.edu	37	chr10	43622119	43622119	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgctggtggactgtaataatGcccccctccctcgagccctc	6	9	9	17	2	0	0	0	0	0	0	3	2	1	1	5	2	2	2	5	2	2	2			TCGA-KK-A7B4-01A-11D-A32B-08	TCGA-KK-A7B4-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48f40308-4306-49e9-95a2-2f3d5430bb1c	def273a4-201d-40ba-81ca-df45a7320547	g.chr10:43622119G>T	ENST00000355710.3	+	19	3368	c.3136G>T	c.(3136-3138)Gcc>Tcc	p.A1046S	RET_ENST00000340058.5_Missense_Mutation_p.A1046S	NM_020975.4	NP_066124.1	P07949	RET_HUMAN	ret proto-oncogene	1046					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|cellular response to retinoic acid (GO:0071300)|embryonic epithelial tube formation (GO:0001838)|enteric nervous system development (GO:0048484)|homophilic cell adhesion (GO:0007156)|innervation (GO:0060384)|lymphocyte migration into lymphoid organs (GO:0097021)|MAPK cascade (GO:0000165)|membrane protein proteolysis (GO:0033619)|neural crest cell migration (GO:0001755)|neuron cell-cell adhesion (GO:0007158)|neuron maturation (GO:0042551)|peptidyl-tyrosine phosphorylation (GO:0018108)|Peyer's patch morphogenesis (GO:0061146)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cell migration (GO:0030335)|positive regulation of cell size (GO:0045793)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of metanephric glomerulus development (GO:0072300)|positive regulation of neuron maturation (GO:0014042)|positive regulation of neuron projection development (GO:0010976)|positive regulation of transcription, DNA-templated (GO:0045893)|posterior midgut development (GO:0007497)|protein phosphorylation (GO:0006468)|regulation of axonogenesis (GO:0050770)|regulation of cell adhesion (GO:0030155)|response to drug (GO:0042493)|response to pain (GO:0048265)|retina development in camera-type eye (GO:0060041)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|ureter maturation (GO:0035799)|ureteric bud development (GO:0001657)	endosome membrane (GO:0010008)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|protein tyrosine kinase activity (GO:0004713)|receptor activity (GO:0004872)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)		CCDC6/RET(4)|KIF5B/RET(79)	NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1)	607		Ovarian(717;0.0423)			Cabozantinib(DB08875)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)	CTGTAATAATGCCCCCCTCCC	0.527		1	"T, Mis, N, F"	"H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6"	"medullary thyroid,  papillary thyroid, pheochromocytoma, NSCLC"	"medullary thyroid,  papillary thyroid, pheochromocytoma"	Hirschsprung disease		Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma																												Melanoma(102;360 522 3376 9752 9881 14372 17251 18341 20876 24662 34807 43144 48149)	ENST00000355710.3		1	yes	Dom	yes	Multiple endocrine neoplasia 2A/2B	10	10q11.2	5979	"T, Mis, N, F"	ret proto-oncogene	yes	Hirschsprung disease	"E, O"	"H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6"	"medullary thyroid,  papillary thyroid, pheochromocytoma"	"medullary thyroid,  papillary thyroid, pheochromocytoma, NSCLC"	CCDC6/RET(4)|KIF5B/RET(79)	0				NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1)	607						c.(3136-3138)Gcc>Tcc		ret proto-oncogene	Sunitinib(DB01268)						112	108	109					10																	43622119		2203	4300	6503	SO:0001583	missense	5979	Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma	Familial Cancer Database	MEN2B, Wagenmann-Froboese s.;MEN2A, Sipple disease, incl MEN2C;FMTC	homophilic cell adhesion|positive regulation of metanephric glomerulus development|positive regulation of transcription, DNA-dependent|posterior midgut development	integral to membrane	ATP binding|calcium ion binding|transmembrane receptor protein tyrosine kinase activity	g.chr10:43622119G>T	BC004257	CCDS7200.1, CCDS53525.1	10q11.2	2014-09-17	2007-02-16		ENSG00000165731	ENSG00000165731		"Cadherins / Cadherin-related"	9967	protein-coding gene	gene with protein product	"cadherin-related family member 16"	164761	"multiple endocrine neoplasia and medullary thyroid carcinoma 1", "Hirschsprung disease 1"	HSCR1, MEN2A, MTC1, MEN2B		2687772, 1611909	Standard	NM_020975		Approved	PTC, CDHF12, RET51, CDHR16	uc001jal.3	P07949	OTTHUMG00000018024	ENST00000355710.3:c.3136G>T	10.37:g.43622119G>T	ENSP00000347942:p.Ala1046Ser					RET_ENST00000340058.5_Missense_Mutation_p.A1046S	p.A1046S	NM_020975.4	NP_066124.1	P07949	RET_HUMAN			19	3368	+		Ovarian(717;0.0423)	1046					A8K6Z2|Q15250|Q9BTB0|Q9H4A2	Missense_Mutation	SNP	ENST00000355710.3	37	c.3136G>T	CCDS7200.1	.	.	.	.	.	.	.	.	.	.	G	16.24	3.067657	0.55539	.	.	ENSG00000165731	ENST00000355710;ENST00000340058	T;T	0.79749	-1.22;-1.3	5.09	3.24	0.37175	.	0.049512	0.85682	D	0.000000	T	0.68851	0.3046	N	0.24115	0.695	0.58432	D	0.999995	B;B;P	0.34815	0.017;0.339;0.47	B;B;B	0.35353	0.027;0.099;0.201	T	0.67891	-0.5553	10	0.72032	D	0.01	.	11.3396	0.49525	0.1475:0.0:0.8525:0.0	.	792;1046;1046	B4DGX8;P07949;P07949-2	.;RET_HUMAN;.	S	1046	ENSP00000347942:A1046S;ENSP00000344798:A1046S	ENSP00000344798:A1046S	A	+	1	0	RET	42942125	1.000000	0.71417	0.934000	0.37439	0.975000	0.68041	5.742000	0.68646	0.562000	0.29204	0.655000	0.94253	GCC		0.527	RET-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047694.2	NM_020975		36	55	1	0	6.29468e-14	1	7.08152e-14	36	55					T	43622119	G	T	43622119	3	4	331	1	0	0	0	0	1	0	0	0	13235	1319	46	5	3210	5	RET	10	43622119	Missense_Mutation	SNP	G	TCGA-KK-A7B4-01A-11D-A32B-08	25371585	43622119	91912628	25	16864											
SPON1	10418	broad.mit.edu	37	chr11	14276232	14276232	+	RNA	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagaaggtggtgcaagaccTgattccctgggacgctggca	9	7	14	11	1	0	3	0	1	0	2	1	4	1	4	3	4	1	3	3	4	2	1			TCGA-KK-A7B4-01A-11D-A32B-08	TCGA-KK-A7B4-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48f40308-4306-49e9-95a2-2f3d5430bb1c	def273a4-201d-40ba-81ca-df45a7320547	g.chr11:14276232T>C	ENST00000310358.7	+	0	1584							Q9HCB6	SPON1_HUMAN	spondin 1, extracellular matrix protein						cell adhesion (GO:0007155)	extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|endometrium(1)|large_intestine(5)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)	21				Epithelial(150;0.00898)		GTGCAAGACCTGATTCCCTGG	0.587																																						ENST00000310358.7																			0				NS(1)|endometrium(1)|large_intestine(5)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)	21								spondin 1, extracellular matrix protein							104	113	110					11																	14276232		2178	4276	6454			10418				cell adhesion	extracellular space|proteinaceous extracellular matrix	protein binding	g.chr11:14276232T>C	AB018305	CCDS73262.1	11p15.2	2014-05-06	2004-03-05		ENSG00000152268	ENSG00000262655			11252	protein-coding gene	gene with protein product		604989	"spondin 1, (f-spondin) extracellular matrix protein"			9872452	Standard	NM_006108		Approved	KIAA0762, f-spondin	uc001mle.3	Q9HCB6	OTTHUMG00000181576		11.37:g.14276232T>C										Q9HCB6	SPON1_HUMAN		Epithelial(150;0.00898)	0	1584	+								A8K6W5|O94862|Q8NCD7|Q8WUR5	RNA	SNP	ENST00000310358.7	37			.	.	.	.	.	.	.	.	.	.	T	16.99	3.274807	0.59649	.	.	ENSG00000152268	ENST00000310358	.	.	.	5.67	5.67	0.87782	Spondin, N-terminal (2);	0.000000	0.64402	D	0.000004	T	0.78773	0.4336	.	.	.	0.80722	D	1.000000	D	0.89917	1.0	D	0.80764	0.994	D	0.83537	0.0094	7	0.62326	D	0.03	.	13.8658	0.63588	0.0:0.0:0.0:1.0	.	350	Q9HCB6	SPON1_HUMAN	P	349	.	ENSP00000309297:L349P	L	+	2	0	SPON1	14232808	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	7.616000	0.83018	2.161000	0.67846	0.459000	0.35465	CTG		0.587	SPON1-201	KNOWN	basic	processed_transcript	processed_transcript		NM_145584		3	39	0	0	0	1	0	3	39					C	14276232	T	C	14276232	1	2	331	0	1	0	0	0	0	0	0	0	15081	1580	55	4		4	SPON1	11	14276232	RNA	SNP	T	TCGA-KK-A7B4-01A-11D-A32B-08		14276232	120730284	26	16865											
C11orf94	143678	broad.mit.edu	37	chr11	45928741	45928741	+	Frame_Shift_Del	DEL	A	A	-																															ccactgccaggatgaggtggAggaagaggctgagcccagcc																										TCGA-KK-A7B4-01A-11D-A32B-08	TCGA-KK-A7B4-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48f40308-4306-49e9-95a2-2f3d5430bb1c	def273a4-201d-40ba-81ca-df45a7320547	g.chr11:45928741delA	ENST00000449465.1	-	1	92	c.56delT	c.(55-57)ctcfs	p.L19fs	RP11-618K13.2_ENST00000533218.1_RNA	NM_001080446.2	NP_001073915.2	C9JXX5	CK094_HUMAN	chromosome 11 open reading frame 94	19						extracellular region (GO:0005576)				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|ovary(1)|pancreas(1)|prostate(1)	7						GATGAGGTGGAGGAAGAGGCT	0.667																																						ENST00000449465.1																			0				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|ovary(1)|pancreas(1)|prostate(1)	7						c.(55-57)ccfs		chromosome 11 open reading frame 94							22	35	30					11																	45928741		2003	4114	6117	SO:0001589	frameshift_variant	143678					extracellular region		g.chr11:45928741delA		CCDS44577.1	11p11.2	2012-08-10			ENSG00000234776	ENSG00000234776			37213	protein-coding gene	gene with protein product							Standard	NM_001080446		Approved		uc001nbs.4	C9JXX5	OTTHUMG00000167004	ENST00000449465.1:c.56delT	11.37:g.45928741delA	ENSP00000401498:p.Leu19fs						p.L19fs	NM_001080446.2	NP_001073915.2	C9JXX5	CK094_HUMAN			1	92	-			19						Frame_Shift_Del	DEL	ENST00000449465.1	37	c.56delT	CCDS44577.1																																																																																				0.667	C11orf94-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392395.1	NM_001080446		2	4						2	4	---	---	---	---	-	45928741	A	-	45928741	7	5	331	1	0	1	0	1	0	0	0	0	1673	304	11	0	252	0	C11orf94	11	45928741	Frame_Shift_Del	DEL	A	TCGA-KK-A7B4-01A-11D-A32B-08	31652509	45928741	89077775	27	16866											
SLC22A10	387775	broad.mit.edu	37	chr11	63065162	63065162	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggcaaaccctgcacgtggtgGcgtctgtacctttctttgtc	5	13	11	12	2	2	0	0	0	2	0	3	0	2	0	2	3	3	3	2	3	2	3			TCGA-KK-A7B4-01A-11D-A32B-08	TCGA-KK-A7B4-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48f40308-4306-49e9-95a2-2f3d5430bb1c	def273a4-201d-40ba-81ca-df45a7320547	g.chr11:63065162G>A	ENST00000332793.6	+	4	795	c.793G>A	c.(793-795)Gcg>Acg	p.A265T	SLC22A10_ENST00000526800.1_Intron|SLC22A10_ENST00000544661.1_Missense_Mutation_p.A110T|SLC22A10_ENST00000525620.1_3'UTR|SLC22A10_ENST00000535888.1_Missense_Mutation_p.A55T	NM_001039752.3	NP_001034841.3	Q63ZE4	S22AA_HUMAN	solute carrier family 22, member 10	265						integral component of membrane (GO:0016021)	transmembrane transporter activity (GO:0022857)			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28					Conjugated Estrogens(DB00286)|Probenecid(DB01032)|Salicylic acid(DB00936)	GCACGTGGTGGCGTCTGTACC	0.453																																						ENST00000544661.1																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						c.(328-330)Gcg>Acg		solute carrier family 22, member 10							169	158	161					11																	63065162		1951	4134	6085	SO:0001583	missense	387775					integral to membrane	transmembrane transporter activity	g.chr11:63065162G>A	AP003420	CCDS41661.1	11q12.3	2013-05-22	2008-01-11		ENSG00000184999	ENSG00000184999		"Solute carriers"	18057	protein-coding gene	gene with protein product		607580	"solute carrier family 22 (organic anion/cation transporter), member 10"			11327718	Standard	NM_001039752		Approved	OAT5, hOAT5	uc009yor.3	Q63ZE4	OTTHUMG00000165197	ENST00000332793.6:c.793G>A	11.37:g.63065162G>A	ENSP00000327569:p.Ala265Thr					SLC22A10_ENST00000535888.1_Missense_Mutation_p.A55T|SLC22A10_ENST00000332793.6_Missense_Mutation_p.A265T|SLC22A10_ENST00000525620.1_3'UTR|SLC22A10_ENST00000526800.1_Intron	p.A110T			Q63ZE4	S22AA_HUMAN			5	756	+			265					Q68CJ0	Missense_Mutation	SNP	ENST00000332793.6	37	c.328G>A	CCDS41661.1	.	.	.	.	.	.	.	.	.	.	G	14.35	2.509791	0.44660	.	.	ENSG00000184999	ENST00000535888;ENST00000544661;ENST00000332793	T;T;T	0.74106	-0.81;-0.81;-0.81	3.0	-3.72	0.04411	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.375070	0.24001	U	0.042478	T	0.42314	0.1197	N	0.02539	-0.55	0.09310	N	1	B	0.20052	0.041	B	0.29524	0.103	T	0.31971	-0.9924	10	0.52906	T	0.07	.	3.8556	0.08974	0.1882:0.0:0.3208:0.491	.	265	Q63ZE4	S22AA_HUMAN	T	55;110;265	ENSP00000444602:A55T;ENSP00000445667:A110T;ENSP00000327569:A265T	ENSP00000327569:A265T	A	+	1	0	SLC22A10	62821738	0.000000	0.05858	0.000000	0.03702	0.448000	0.32197	-0.332000	0.07904	-0.996000	0.03455	0.447000	0.29281	GCG		0.453	SLC22A10-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382622.3	NM_001039752		40	75	0	0	0	1	0	40	75					A	63065162	G	A	63065162	3	1	331	1	0	0	0	0	1	0	0	0	14441	1203	42	3	807	3	SLC22A10	11	63065162	Missense_Mutation	SNP	G	TCGA-KK-A7B4-01A-11D-A32B-08	17136421	63065162	71941354	28	16867											
GUCY2C	2984	broad.mit.edu	37	chr12	14798210	14798210	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cttaaactcccaatccatgaAtgtgccatcagggtaggaaa	14	9	8	10	0	1	1	1	1	0	0	3	2	3	2	3	2	2	1	3	2	6	2			TCGA-KK-A7B4-01A-11D-A32B-08	TCGA-KK-A7B4-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48f40308-4306-49e9-95a2-2f3d5430bb1c	def273a4-201d-40ba-81ca-df45a7320547	g.chr12:14798210A>C	ENST00000261170.3	-	16	1886	c.1750T>G	c.(1750-1752)Ttc>Gtc	p.F584V		NM_004963.3	NP_004954.2	P25092	GUC2C_HUMAN	guanylate cyclase 2C (heat stable enterotoxin receptor)	584	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				intracellular signal transduction (GO:0035556)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of cell proliferation (GO:0042127)|response to toxic substance (GO:0009636)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|protein kinase activity (GO:0004672)|toxic substance binding (GO:0015643)			breast(3)|endometrium(7)|kidney(3)|large_intestine(9)|lung(17)|ovary(4)|skin(7)|urinary_tract(1)	51					Linaclotide(DB08890)	CAATCCATGAATGTGCCATCA	0.333																																						ENST00000261170.3																			0				breast(3)|endometrium(7)|kidney(3)|large_intestine(9)|lung(17)|ovary(4)|skin(7)|urinary_tract(1)	51						c.(1750-1752)Ttc>Gtc		guanylate cyclase 2C (heat stable enterotoxin receptor)							117	117	117					12																	14798210		2203	4300	6503	SO:0001583	missense	2984				intracellular signal transduction|receptor guanylyl cyclase signaling pathway	integral to membrane	ATP binding|GTP binding|guanylate cyclase activity|protein binding|protein kinase activity|receptor activity	g.chr12:14798210A>C		CCDS8664.1	12p12	2008-08-18			ENSG00000070019	ENSG00000070019			4688	protein-coding gene	gene with protein product		601330		GUC2C		8661067	Standard	NM_004963		Approved	STAR	uc001rcd.3	P25092	OTTHUMG00000168732	ENST00000261170.3:c.1750T>G	12.37:g.14798210A>C	ENSP00000261170:p.Phe584Val						p.F584V	NM_004963.3	NP_004954.2	P25092	GUC2C_HUMAN			16	1886	-			584			Protein kinase.		B2RMY6	Missense_Mutation	SNP	ENST00000261170.3	37	c.1750T>G	CCDS8664.1	.	.	.	.	.	.	.	.	.	.	A	19.72	3.879294	0.72294	.	.	ENSG00000070019	ENST00000261170	D	0.81996	-1.56	5.21	5.21	0.72293	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.77391	0.4123	N	0.25647	0.755	0.80722	D	1	B	0.25667	0.131	B	0.34931	0.192	T	0.73943	-0.3823	10	0.35671	T	0.21	.	15.0607	0.71951	1.0:0.0:0.0:0.0	.	584	P25092	GUC2C_HUMAN	V	584	ENSP00000261170:F584V	ENSP00000261170:F584V	F	-	1	0	GUCY2C	14689477	1.000000	0.71417	0.998000	0.56505	0.982000	0.71751	7.507000	0.81676	1.972000	0.57404	0.496000	0.49642	TTC		0.333	GUCY2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400835.1			34	78	0	0	0	1	0	34	78					C	14798210	A	C	14798210	3	2	331	1	0	0	0	0	1	0	0	0	6896	101	4	5	1519	5	GUCY2C	12	14798210	Missense_Mutation	SNP	A	TCGA-KK-A7B4-01A-11D-A32B-08		14798210	119053685	29	16868											
C12orf71	728858	broad.mit.edu	37	chr12	27234319	27234319	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctgtgtgtgtgaaggagtgtCatccttctctggctgctctg	4	15	13	9	0	3	1	1	1	2	0	5	2	4	2	1	2	1	2	1	2	1	1			TCGA-KK-A7B4-01A-11D-A32B-08	TCGA-KK-A7B4-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48f40308-4306-49e9-95a2-2f3d5430bb1c	def273a4-201d-40ba-81ca-df45a7320547	g.chr12:27234319C>T	ENST00000429849.2	-	2	628	c.598G>A	c.(598-600)Gac>Aac	p.D200N		NM_001080406.1	NP_001073875.1	A8MTZ7	CL071_HUMAN	chromosome 12 open reading frame 71	200										endometrium(2)|large_intestine(1)|lung(4)|skin(1)	8						GAAGGAGTGTCATCCTTCTCT	0.562																																						ENST00000429849.2																			0				endometrium(2)|large_intestine(1)|lung(4)|skin(1)	8						c.(598-600)Gac>Aac		chromosome 12 open reading frame 71							152	142	146					12																	27234319		2108	4238	6346	SO:0001583	missense	728858							g.chr12:27234319C>T		CCDS44851.1	12p11.23	2008-07-25			ENSG00000214700	ENSG00000214700			34452	protein-coding gene	gene with protein product							Standard	NM_001080406		Approved	LOC728858	uc001rhq.3	A8MTZ7	OTTHUMG00000169274	ENST00000429849.2:c.598G>A	12.37:g.27234319C>T	ENSP00000413728:p.Asp200Asn						p.D200N	NM_001080406.1	NP_001073875.1	A8MTZ7	CL071_HUMAN			2	628	-			200						Missense_Mutation	SNP	ENST00000429849.2	37	c.598G>A	CCDS44851.1	.	.	.	.	.	.	.	.	.	.	C	14.44	2.535386	0.45176	.	.	ENSG00000214700	ENST00000398815;ENST00000429849	T	0.49432	0.78	2.03	2.03	0.26663	.	.	.	.	.	T	0.41834	0.1176	L	0.29908	0.895	0.09310	N	1	D	0.61080	0.989	P	0.50231	0.635	T	0.21280	-1.0250	9	0.72032	D	0.01	.	7.5786	0.27950	0.0:1.0:0.0:0.0	.	200	A8MTZ7	CL071_HUMAN	N	232;200	ENSP00000413728:D200N	ENSP00000381796:D232N	D	-	1	0	C12orf71	27125586	0.000000	0.05858	0.164000	0.22755	0.090000	0.18270	0.459000	0.21908	1.455000	0.47813	0.407000	0.27541	GAC		0.562	C12orf71-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403258.1	NM_001080406		11	74	0	0	0	1	0	11	74					T	27234319	C	T	27234319	3	4	331	1	0	0	0	0	1	0	0	0	1712	826	29	3	215	3	C12orf71	12	27234319	Missense_Mutation	SNP	C	TCGA-KK-A7B4-01A-11D-A32B-08	12436109	27234319	106617576	30	16869											
ANKRD52	283373	broad.mit.edu	37	chr12	56638934	56638934	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tttccttccaggtacgaaaaCgggctgtgttcaagtaacaa	12	11	9	9	2	1	0	1	0	0	0	3	1	3	0	2	2	3	4	2	2	6	5			TCGA-KK-A7B4-01A-11D-A32B-08	TCGA-KK-A7B4-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48f40308-4306-49e9-95a2-2f3d5430bb1c	def273a4-201d-40ba-81ca-df45a7320547	g.chr12:56638934C>T	ENST00000267116.7	-	22	2566	c.2445G>A	c.(2443-2445)ccG>ccA	p.P815P	ANKRD52_ENST00000548241.1_5'Flank	NM_173595.3	NP_775866.2	Q8NB46	ANR52_HUMAN	ankyrin repeat domain 52	815										endometrium(9)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)|skin(1)	29						GGTACGAAAACGGGCTGTGTT	0.522																																						ENST00000267116.7																			0				endometrium(9)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)|skin(1)	29						c.(2443-2445)ccG>ccA		ankyrin repeat domain 52							185	166	172					12																	56638934		2006	4189	6195	SO:0001819	synonymous_variant	283373						protein binding	g.chr12:56638934C>T	AK091555	CCDS44920.1	12q13.3	2013-01-10			ENSG00000139645	ENSG00000139645		"Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits", "Ankyrin repeat domain containing"	26614	protein-coding gene	gene with protein product	"protein phosphatase 6 ankyrin repeat subunit C"						Standard	NM_173595		Approved	FLJ34236, PP6-ARS-C	uc001skm.4	Q8NB46	OTTHUMG00000170329	ENST00000267116.7:c.2445G>A	12.37:g.56638934C>T							p.P815P	NM_173595.3	NP_775866.2	Q8NB46	ANR52_HUMAN			22	2566	-			815					A6NE79|B1Q2K2	Silent	SNP	ENST00000267116.7	37	c.2445G>A	CCDS44920.1																																																																																				0.522	ANKRD52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408539.1	NM_173595		6	141	0	0	0	1	0	6	141					T	56638934	C	T	56638934	2	4	331	1	0	0	0	0	0	0	0	1	678	523	19	1		1	ANKRD52	12	56638934	Silent	SNP	C	TCGA-KK-A7B4-01A-11D-A32B-08	29404615	56638934	77212961	31	16870											
CS	1431	broad.mit.edu	37	chr12	56667436	56667436	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cttggctttaccctgctctaAgaggacattgggcacaatct	9	12	9	11	0	2	1	0	0	2	1	2	2	2	2	1	3	2	3	1	3	3	5			TCGA-KK-A7B4-01A-11D-A32B-08	TCGA-KK-A7B4-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48f40308-4306-49e9-95a2-2f3d5430bb1c	def273a4-201d-40ba-81ca-df45a7320547	g.chr12:56667436A>C	ENST00000351328.3	-	10	1355	c.1165T>G	c.(1165-1167)Tta>Gta	p.L389V	CS_ENST00000542324.2_Missense_Mutation_p.L376V|CS_ENST00000548567.1_Missense_Mutation_p.L323V	NM_004077.2	NP_004068.2	O75390	CISY_HUMAN	citrate synthase	389					carbohydrate metabolic process (GO:0005975)|cellular carbohydrate metabolic process (GO:0044262)|cellular metabolic process (GO:0044237)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	citrate (Si)-synthase activity (GO:0004108)|poly(A) RNA binding (GO:0044822)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	17		Myeloproliferative disorder(1001;0.000374)		BRCA - Breast invasive adenocarcinoma(357;6.17e-07)		CCCTGCTCTAAGAGGACATTG	0.488																																						ENST00000548567.1																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	17						c.(967-969)Tta>Gta		citrate synthase							123	104	110					12																	56667436		2203	4300	6503	SO:0001583	missense	1431				cellular carbohydrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix	citrate (Si)-synthase activity	g.chr12:56667436A>C		CCDS8913.1	12q13.2	2012-10-02				ENSG00000062485	2.3.3.1		2422	protein-coding gene	gene with protein product		118950					Standard	NM_004077		Approved		uc001sks.1	O75390	OTTHUMG00000170344	ENST00000351328.3:c.1165T>G	12.37:g.56667436A>C	ENSP00000342056:p.Leu389Val					CS_ENST00000542324.2_Missense_Mutation_p.L376V|CS_ENST00000351328.3_Missense_Mutation_p.L389V	p.L323V			O75390	CISY_HUMAN		BRCA - Breast invasive adenocarcinoma(357;6.17e-07)	11	1437	-		Myeloproliferative disorder(1001;0.000374)	389					Q71UT9|Q7KZH0|Q96FZ8|Q9BWN8	Missense_Mutation	SNP	ENST00000351328.3	37	c.967T>G	CCDS8913.1	.	.	.	.	.	.	.	.	.	.	A	14.97	2.693233	0.48202	.	.	ENSG00000062485	ENST00000548567;ENST00000351328;ENST00000548746;ENST00000542324	.	.	.	5.69	-0.603	0.11630	Citrate synthase-like, core (1);	0.000000	0.64402	D	0.000001	T	0.60392	0.2265	M	0.88105	2.93	0.49213	D	0.99976	B;B;B	0.18310	0.027;0.007;0.027	B;B;B	0.16289	0.015;0.015;0.015	T	0.53711	-0.8400	9	0.46703	T	0.11	-2.7959	6.2129	0.20640	0.4798:0.1384:0.3818:0.0	.	376;344;389	B4DJV2;B3KTN4;O75390	.;.;CISY_HUMAN	V	323;389;62;376	.	ENSP00000342056:L389V	L	-	1	2	CS	54953703	0.998000	0.40836	0.997000	0.53966	0.979000	0.70002	2.214000	0.42853	-0.041000	0.13558	-0.313000	0.08912	TTA		0.488	CS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408588.2	NM_004077		4	66	0	0	0	1	0	4	66					C	56667436	A	C	56667436	3	2	331	1	0	0	0	0	1	0	0	0	3924	69	3	5	243	5	CS	12	56667436	Missense_Mutation	SNP	A	TCGA-KK-A7B4-01A-11D-A32B-08	28502	56667436	77184459	32	16871											
DYNC1H1	1778	broad.mit.edu	37	chr14	102442099	102442099	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagaattcatttcctataacAtcaacatagacattcattat	17	14	2	8	0	3	2	3	0	0	2	4	2	4	2	1	0	2	0	1	0	7	7			TCGA-KK-A7B4-01A-11D-A32B-08	TCGA-KK-A7B4-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48f40308-4306-49e9-95a2-2f3d5430bb1c	def273a4-201d-40ba-81ca-df45a7320547	g.chr14:102442099A>G	ENST00000360184.4	+	2	471	c.307A>G	c.(307-309)Atc>Gtc	p.I103V		NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	103	Stem. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|cytoplasmic mRNA processing body assembly (GO:0033962)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic spindle organization (GO:0007052)|stress granule assembly (GO:0034063)|transport (GO:0006810)	centrosome (GO:0005813)|cytoplasmic dynein complex (GO:0005868)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|poly(A) RNA binding (GO:0044822)			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						TTCCTATAACATCAACATAGA	0.279																																						ENST00000360184.4																			0				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						c.(307-309)Atc>Gtc		dynein, cytoplasmic 1, heavy chain 1							75	80	79					14																	102442099		2203	4300	6503	SO:0001583	missense	1778				cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding	g.chr14:102442099A>G	AB002323	CCDS9966.1	14q32.31	2006-12-21	2005-11-24	2005-11-24		ENSG00000197102		"Cytoplasmic dyneins"	2961	protein-coding gene	gene with protein product		600112	"dynein, cytoplasmic, heavy polypeptide 1"	DNECL, DNCL, DNCH1		16260502, 8666668	Standard	NM_001376		Approved	Dnchc1, HL-3, p22, DHC1	uc001yks.2	Q14204		ENST00000360184.4:c.307A>G	14.37:g.102442099A>G	ENSP00000348965:p.Ile103Val						p.I103V	NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN			2	471	+			103			Stem (By similarity).		B0I1R0|Q6DKQ7|Q8WU28|Q92814|Q9Y4G5	Missense_Mutation	SNP	ENST00000360184.4	37	c.307A>G	CCDS9966.1	.	.	.	.	.	.	.	.	.	.	A	3.829	-0.036255	0.07497	.	.	ENSG00000197102	ENST00000360184	T	0.26518	1.73	5.44	4.3	0.51218	.	0.244071	0.41605	N	0.000852	T	0.11495	0.0280	N	0.05330	-0.07	0.44395	D	0.997303	B	0.02656	0.0	B	0.01281	0.0	T	0.12760	-1.0535	10	0.15499	T	0.54	.	8.4292	0.32746	0.8492:0.0:0.1508:0.0	.	103	Q14204	DYHC1_HUMAN	V	103	ENSP00000348965:I103V	ENSP00000348965:I103V	I	+	1	0	DYNC1H1	101511852	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.912000	0.48782	0.889000	0.36185	0.383000	0.25322	ATC		0.279	DYNC1H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414574.1	NM_001376		28	45	0	0	0	1	0	28	45					G	102442099	A	G	102442099	3	3	331	1	0	0	0	0	1	0	0	0	4841	217	8	4	313	4	DYNC1H1	14	102442099	Missense_Mutation	SNP	A	TCGA-KK-A7B4-01A-11D-A32B-08		102442099	4907441	33	16872											
TPSG1	8912	broad.mit.edu	37	chr16	1271955	1271955	+	IGR	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccctgatgctgtgatgtggcGgcggatccagttcacgtagg	6	10	15	10	3	1	2	1	2	0	0	2	3	2	3	2	4	1	3	2	4	1	2	rs181691054	byFrequency	TCGA-KK-A7B4-01A-11D-A32B-08	TCGA-KK-A7B4-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48f40308-4306-49e9-95a2-2f3d5430bb1c	def273a4-201d-40ba-81ca-df45a7320547	g.chr16:1271955G>A	ENST00000348261.5	+	0	8084				TPSG1_ENST00000234798.4_Missense_Mutation_p.R267C	NM_021098.2	NP_066921.2	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type, alpha 1H subunit						aldosterone biosynthetic process (GO:0032342)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|cellular response to hormone stimulus (GO:0032870)|cellular response to potassium ion (GO:0035865)|cortisol biosynthetic process (GO:0034651)|membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|myoblast fusion (GO:0007520)|positive regulation of acrosome reaction (GO:2000344)|regulation of heart contraction (GO:0008016)|regulation of membrane potential (GO:0042391)|transport (GO:0006810)	caveola (GO:0005901)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|voltage-gated calcium channel complex (GO:0005891)	low voltage-gated calcium channel activity (GO:0008332)|metal ion binding (GO:0046872)|scaffold protein binding (GO:0097110)			breast(4)|endometrium(5)|kidney(2)|lung(23)	34		Hepatocellular(780;0.00369)			Amiodarone(DB01118)|Bepridil(DB01244)|Cinnarizine(DB00568)|Felodipine(DB01023)|Flunarizine(DB04841)|Isradipine(DB00270)|Nifedipine(DB01115)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Zonisamide(DB00909)	GTGATGTGGCGGCGGATCCAG	0.662													g|||	2	0.000399361	8e-04	0	5008	,	,		14103	0		0.001	False		,,,				2504	0					ENST00000234798.4																			0				liver(1)|lung(2)|skin(1)	4						c.(799-801)Cgc>Tgc		tryptase gamma 1							30	41	37					16																	1271955		2196	4299	6495	SO:0001628	intergenic_variant	25823				proteolysis	integral to plasma membrane	serine-type endopeptidase activity	g.chr16:1271955G>A	AL031703	CCDS45375.1, CCDS45376.1	16p13.3	2012-03-07	2007-02-16					"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1395	protein-coding gene	gene with protein product		607904				9670923, 16382099	Standard	NM_021098		Approved	Cav3.2	uc002cks.3	O95180			16.37:g.1271955G>A							p.R267C	NM_012467.3	NP_036599.3	Q9NRR2	TRYG1_HUMAN			6	803	-		Hepatocellular(780;0.00369)	267			Peptidase S1.		B5ME00|F8WFD1|O95802|Q8WWI6|Q96QI6|Q96RZ9|Q9NYY4|Q9NYY5	Missense_Mutation	SNP	ENST00000348261.5	37	c.799C>T	CCDS45375.1	2	9.157509157509158E-4	1	0.0020325203252032522	0	0.0	0	0.0	1	0.0013192612137203166	g	15.70	2.911474	0.52439	.	.	ENSG00000116176	ENST00000234798	D	0.93189	-3.18	4.14	-3.49	0.04724	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (1);	.	.	.	.	D	0.90841	0.7123	M	0.71871	2.18	0.09310	N	1	D	0.69078	0.997	P	0.48227	0.571	T	0.82625	-0.0365	9	0.62326	D	0.03	.	1.6392	0.02749	0.4867:0.1495:0.2122:0.1516	.	267	Q9NRR2	TRYG1_HUMAN	C	267	ENSP00000234798:R267C	ENSP00000234798:R267C	R	-	1	0	TPSG1	1211956	0.000000	0.05858	0.000000	0.03702	0.041000	0.13682	-0.628000	0.05515	-0.263000	0.09378	0.645000	0.84053	CGC		0.662	CACNA1H-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000421601.1	NM_001005407		11	16	0	0	0	1	0	11	16					A	1271955	G	A	1271955	1	1	331	0	1	0	0	0	0	0	0	0	16423	1116	39	2		2	TPSG1	16	1271955	IGR	SNP	G	TCGA-KK-A7B4-01A-11D-A32B-08		1271955	89082798	34	16873											
ACSM2B	348158	broad.mit.edu	37	chr16	20563466	20563466	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caaactggatcctctcttacCtttagaataaccagtgggtc	11	12	7	11	0	1	1	0	0	1	1	4	2	2	2	3	2	3	0	3	2	5	4			TCGA-KK-A7B4-01A-11D-A32B-08	TCGA-KK-A7B4-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48f40308-4306-49e9-95a2-2f3d5430bb1c	def273a4-201d-40ba-81ca-df45a7320547	g.chr16:20563466C>T	ENST00000329697.6	-	6	1062	c.894G>A	c.(892-894)aaG>aaA	p.K298K	ACSM2B_ENST00000567001.1_Splice_Site_p.K298K|ACSM2B_ENST00000565232.1_Splice_Site_p.K298K|ACSM2B_ENST00000565322.1_Splice_Site_p.K219K|ACSM2B_ENST00000567288.1_5'UTR	NM_001105069.1	NP_001098539.1	Q68CK6	ACS2B_HUMAN	acyl-CoA synthetase medium-chain family member 2B	298					fatty acid metabolic process (GO:0006631)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|metal ion binding (GO:0046872)			breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5)	57						CCTCTCTTACCTTTAGAATAA	0.393																																						ENST00000329697.6																			0				breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5)	57						c.e6+1		acyl-CoA synthetase medium-chain family member 2B							106	109	108					16																	20563466		2201	4297	6498	SO:0001630	splice_region_variant	348158				fatty acid metabolic process|xenobiotic metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|CoA-ligase activity|metal ion binding	g.chr16:20563466C>T	AY160217	CCDS10586.1	16p12.3	2014-08-08	2007-06-20	2007-06-20	ENSG00000066813	ENSG00000066813		"Acyl-CoA synthetase family"	30931	protein-coding gene	gene with protein product	"xenobiotic/medium chain fatty acid:CoA ligase"	614359	"acyl-CoA synthetase medium-chain family member 2"	ACSM2		12616642	Standard	NM_182617		Approved	HXMA, HYST1046	uc002dhk.4	Q68CK6	OTTHUMG00000131555	ENST00000329697.6:c.894+1G>A	16.37:g.20563466C>T						ACSM2B_ENST00000567288.1_5'UTR|ACSM2B_ENST00000567001.1_Splice_Site_p.K298_splice|ACSM2B_ENST00000565232.1_Splice_Site_p.K298_splice|ACSM2B_ENST00000565322.1_Splice_Site_p.K219_splice	p.K298_splice	NM_001105069.1	NP_001098539.1	Q68CK6	ACS2B_HUMAN			6	1062	-			298					Q86YT1	Splice_Site	SNP	ENST00000329697.6	37	c.894_splice	CCDS10586.1																																																																																				0.393	ACSM2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254417.2	NM_182617	Silent	16	151	0	0	0	1	0	16	151					T	20563466	C	T	20563466	5	4	331	1	0	0	0	0	0	0	1	0	184	695	24	3	875	3	ACSM2B	16	20563466	Splice_Site	SNP	C	TCGA-KK-A7B4-01A-11D-A32B-08	19291511	20563466	69791287	35	16874											
TP53	7157	broad.mit.edu	37	chr17	7579315	7579316	+	Frame_Shift_Ins	INS	-	-	C																															cctcagggcaactgaccgtgINScaagtcacagacttggctgt																										TCGA-KK-A7B4-01A-11D-A32B-08	TCGA-KK-A7B4-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48f40308-4306-49e9-95a2-2f3d5430bb1c	def273a4-201d-40ba-81ca-df45a7320547	g.chr17:7579315_7579316insC	ENST00000269305.4	-	4	560_561	c.371_372insG	c.(370-372)tgcfs	p.C124fs	TP53_ENST00000420246.2_Frame_Shift_Ins_p.C124fs|TP53_ENST00000455263.2_Frame_Shift_Ins_p.C124fs|TP53_ENST00000413465.2_Frame_Shift_Ins_p.C124fs|TP53_ENST00000359597.4_Frame_Shift_Ins_p.C124fs|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000445888.2_Frame_Shift_Ins_p.C124fs	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	124	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		C -> G (in a sporadic cancer; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in sporadic cancers; somatic mutation).|C -> W (in a sporadic cancer; somatic mutation).|C -> Y (in a sporadic cancer; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.0?(8)|p.C124*(3)|p.G59fs*23(3)|p.C124fs*1(1)|p.V73fs*9(1)|p.T123fs*24(1)|p.G105_T125del21(1)|p.Y107fs*44(1)|p.T125fs*24(1)|p.C124S(1)|p.P13fs*18(1)|p.S33fs*23(1)|p.C124Y(1)|p.C124fs*25(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	AACTGACCGTGCAAGTCACAGA	0.545		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"Mis, N, F"	tumor protein p53			"L, E, M, O"		"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"	"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"		25	Deletion - Frameshift(9)|Whole gene deletion(8)|Substitution - Nonsense(3)|Insertion - Frameshift(2)|Substitution - Missense(2)|Deletion - In frame(1)	p.0?(8)|p.C124*(3)|p.G59fs*23(3)|p.C124fs*1(1)|p.V73fs*9(1)|p.T123fs*24(1)|p.G105_T125del21(1)|p.Y107fs*44(1)|p.T125fs*24(1)|p.C124S(1)|p.P13fs*18(1)|p.S33fs*23(1)|p.C124Y(1)|p.C124fs*25(1)	lung(5)|upper_aerodigestive_tract(4)|bone(4)|ovary(3)|breast(3)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|stomach(1)|liver(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185						c.(370-372)tacfs	Other conserved DNA damage response genes	tumor protein p53																																				SO:0001589	frameshift_variant	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7579315_7579316insC	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"Li-Fraumeni syndrome"	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.372dupG	17.37:g.7579316_7579316dupC	ENSP00000269305:p.Cys124fs	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_ENST00000455263.2_Frame_Shift_Ins_p.Y124fs|TP53_ENST00000359597.4_Frame_Shift_Ins_p.Y124fs|TP53_ENST00000445888.2_Frame_Shift_Ins_p.Y124fs|TP53_ENST00000269305.4_Frame_Shift_Ins_p.Y124fs|TP53_ENST00000413465.2_Frame_Shift_Ins_p.Y124fs	p.Y124fs	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	4	503_504	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	124		C -> G (in a sporadic cancer; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in sporadic cancers; somatic mutation).|C -> W (in a sporadic cancer; somatic mutation).|C -> Y (in a sporadic cancer; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Frame_Shift_Ins	INS	ENST00000269305.4	37	c.371_372insG	CCDS11118.1																																																																																				0.545	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		26	28						26	28	---	---	---	---	C	7579316	-	C	7579315	7	5	331	1	0	1	1	0	0	0	0	0	16378	1311	46	0	930	0	TP53	17	7579315	Frame_Shift_Ins	INS	-	TCGA-KK-A7B4-01A-11D-A32B-08		7579315	73615895	36	16875											
MYOCD	93649	broad.mit.edu	37	chr17	12655803	12655803	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaaaacggctctcatggacCggcttcgacccttccaggac	9	7	9	16	3	1	0	1	0	1	0	4	3	2	2	4	4	1	2	4	4	2	2			TCGA-KK-A7B4-01A-11D-A32B-08	TCGA-KK-A7B4-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48f40308-4306-49e9-95a2-2f3d5430bb1c	def273a4-201d-40ba-81ca-df45a7320547	g.chr17:12655803C>T	ENST00000343344.4	+	10	1198	c.1198C>T	c.(1198-1200)Cgg>Tgg	p.R400W	AC005358.1_ENST00000609971.1_Missense_Mutation_p.R304W|MYOCD_ENST00000395988.1_3'UTR|MYOCD_ENST00000425538.1_Missense_Mutation_p.R400W			Q8IZQ8	MYCD_HUMAN	myocardin	400	SAP. {ECO:0000255|PROSITE- ProRule:PRU00186}.				cardiac muscle cell differentiation (GO:0055007)|cardiac ventricle development (GO:0003231)|cardiocyte differentiation (GO:0035051)|cell growth involved in cardiac muscle cell development (GO:0061049)|cellular component maintenance (GO:0043954)|cellular response to growth factor stimulus (GO:0071363)|cellular response to hypoxia (GO:0071456)|digestive tract development (GO:0048565)|ductus arteriosus closure (GO:0097070)|hepatic stellate cell activation (GO:0035733)|lung alveolus development (GO:0048286)|negative regulation of beta-amyloid clearance (GO:1900222)|negative regulation of cardiac muscle cell apoptotic process (GO:0010667)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of skeletal muscle cell differentiation (GO:2001015)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cardiac muscle cell differentiation (GO:2000727)|positive regulation of cardiac vascular smooth muscle cell differentiation (GO:2000724)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA binding (GO:0043388)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smooth muscle cell differentiation (GO:0051152)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003257)|positive regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation (GO:2000721)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of cell growth by extracellular stimulus (GO:0001560)|regulation of histone acetylation (GO:0035065)|regulation of myoblast differentiation (GO:0045661)|regulation of smooth muscle cell differentiation (GO:0051150)|response to hypoxia (GO:0001666)|smooth muscle cell differentiation (GO:0051145)|urinary bladder development (GO:0060157)|uterus development (GO:0060065)|vasculogenesis (GO:0001570)|ventricular cardiac muscle cell differentiation (GO:0055012)	nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|protein domain specific binding (GO:0019904)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		TCTCATGGACCGGCTTCGACC	0.507																																						ENST00000425538.1																			0				breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70						c.(1198-1200)Cgg>Tgg		myocardin							79	78	78					17																	12655803		2203	4300	6503	SO:0001583	missense	93649				cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation	nucleus	nucleic acid binding|RNA polymerase II transcription factor binding transcription factor activity|transcription factor binding	g.chr17:12655803C>T	AF532596	CCDS11163.1, CCDS54091.1	17p11.2	2004-03-01			ENSG00000141052	ENSG00000141052			16067	protein-coding gene	gene with protein product		606127				11439182, 12397177	Standard	XM_005256863		Approved	MYCD	uc002gno.2	Q8IZQ8	OTTHUMG00000058767	ENST00000343344.4:c.1198C>T	17.37:g.12655803C>T	ENSP00000341835:p.Arg400Trp					MYOCD_ENST00000395988.1_Missense_Mutation_p.R304W|MYOCD_ENST00000343344.4_Missense_Mutation_p.R400W	p.R400W	NM_001146312.1|NM_153604.2	NP_001139784.1|NP_705832.1	Q8IZQ8	MYCD_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)	10	1398	+			400			SAP.		Q5UBU5|Q8N7Q1	Missense_Mutation	SNP	ENST00000343344.4	37	c.1198C>T	CCDS11163.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.039955	0.75732	.	.	ENSG00000141052	ENST00000395982;ENST00000425538;ENST00000343344;ENST00000395988;ENST00000443061	D;D	0.87887	-2.28;-2.31	5.78	1.24	0.21308	DNA-binding SAP (4);	0.000000	0.85682	D	0.000000	D	0.93949	0.8063	M	0.90425	3.115	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	D	0.94041	0.7309	10	0.87932	D	0	-33.8002	14.7813	0.69769	0.6282:0.3718:0.0:0.0	.	119;304;400;400	E9PEP9;Q8IZQ8-2;Q8IZQ8-3;Q8IZQ8	.;.;.;MYCD_HUMAN	W	119;400;400;304;105	ENSP00000341835:R400W;ENSP00000400148:R105W	ENSP00000341835:R400W	R	+	1	2	MYOCD	12596528	1.000000	0.71417	0.943000	0.38184	0.996000	0.88848	1.493000	0.35605	0.023000	0.15187	0.591000	0.81541	CGG		0.507	MYOCD-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129950.1	NM_153604		6	38	0	0	0	1	0	6	38					T	12655803	C	T	12655803	3	4	331	1	0	0	0	0	1	0	0	0	10087	643	23	2	1236	2	MYOCD	17	12655803	Missense_Mutation	SNP	C	TCGA-KK-A7B4-01A-11D-A32B-08	5076488	12655803	68539407	37	16876											
COG1	9382	broad.mit.edu	37	chr17	71193480	71193480	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgctgccagatccagccctGccatgtggcttgctcttctc	4	12	9	16	0	2	1	0	0	2	1	4	1	3	1	4	1	5	3	4	1	0	2			TCGA-KK-A7B4-01A-11D-A32B-08	TCGA-KK-A7B4-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48f40308-4306-49e9-95a2-2f3d5430bb1c	def273a4-201d-40ba-81ca-df45a7320547	g.chr17:71193480G>T	ENST00000299886.4	+	4	938	c.858G>T	c.(856-858)ctG>ctT	p.L286L	RP11-143K11.5_ENST00000580671.1_RNA	NM_018714.2	NP_061184.1	Q8WTW3	COG1_HUMAN	component of oligomeric golgi complex 1	286					Golgi organization (GO:0007030)|intra-Golgi vesicle-mediated transport (GO:0006891)|protein transport (GO:0015031)	Golgi apparatus (GO:0005794)|Golgi transport complex (GO:0017119)|membrane (GO:0016020)				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18			LUSC - Lung squamous cell carcinoma(166;0.197)			ATCCAGCCCTGCCATGTGGCT	0.512																																						ENST00000299886.4																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						c.(856-858)ctG>ctT		component of oligomeric golgi complex 1							111	103	106					17																	71193480		2203	4300	6503	SO:0001819	synonymous_variant	9382				Golgi organization|intra-Golgi vesicle-mediated transport|protein transport	Golgi membrane|Golgi transport complex	protein binding	g.chr17:71193480G>T		CCDS11692.1	17q25.1	2008-05-14	2002-05-28	2002-05-31		ENSG00000166685		"Components of oligomeric golgi complex"	6545	protein-coding gene	gene with protein product		606973	"low density lipoprotein receptor defect B complementing"	LDLB		9927668	Standard	NM_018714		Approved	KIAA1381	uc002jjg.3	Q8WTW3		ENST00000299886.4:c.858G>T	17.37:g.71193480G>T							p.L286L	NM_018714.2	NP_061184.1	Q8WTW3	COG1_HUMAN	LUSC - Lung squamous cell carcinoma(166;0.197)		4	938	+			286					Q9NPV9|Q9P2G6	Silent	SNP	ENST00000299886.4	37	c.858G>T	CCDS11692.1																																																																																				0.512	COG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441638.1			24	105	1	0	1.36565e-18	1	1.56904e-18	24	105					T	71193480	G	T	71193480	2	4	331	1	0	0	0	0	0	0	0	1	3657	1306	46	5		5	COG1	17	71193480	Silent	SNP	G	TCGA-KK-A7B4-01A-11D-A32B-08	58537677	71193480	10001730	38	16877											
ZNF337	26152	broad.mit.edu	37	chr20	25657357	25657357	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	attaccatcatcttccggctGaagtcttgcccacgctctgc	7	12	7	15	2	4	1	1	1	3	0	5	1	5	1	3	1	3	2	3	1	2	3			TCGA-KK-A7B4-01A-11D-A32B-08	TCGA-KK-A7B4-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48f40308-4306-49e9-95a2-2f3d5430bb1c	def273a4-201d-40ba-81ca-df45a7320547	g.chr20:25657357G>A	ENST00000376436.1	-	4	1106	c.567C>T	c.(565-567)ttC>ttT	p.F189F	RP4-694B14.5_ENST00000428254.1_RNA|ZNF337_ENST00000538750.1_Silent_p.F157F|RP4-694B14.5_ENST00000455791.1_RNA|ZNF337_ENST00000252979.5_Silent_p.F189F|ZNF337_ENST00000481610.1_5'Flank|RP4-694B14.5_ENST00000414393.1_RNA|RP4-694B14.5_ENST00000439498.1_RNA|RP4-694B14.5_ENST00000421829.1_RNA			Q9Y3M9	ZN337_HUMAN	zinc finger protein 337	189					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						TCTTCCGGCTGAAGTCTTGCC	0.433																																						ENST00000376436.1																			0				breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(565-567)ttC>ttT		zinc finger protein 337							177	160	166					20																	25657357		2203	4300	6503	SO:0001819	synonymous_variant	26152							g.chr20:25657357G>A		CCDS13174.1	20p11.1	2013-09-20			ENSG00000130684	ENSG00000130684		"Zinc fingers, C2H2-type", "-"	15809	protein-coding gene	gene with protein product							Standard	XM_005260702		Approved	dJ694B14.1	uc002wuz.3	Q9Y3M9	OTTHUMG00000032131	ENST00000376436.1:c.567C>T	20.37:g.25657357G>A						ZNF337_ENST00000538750.1_Silent_p.F157F|RP4-694B14.5_ENST00000455791.1_RNA|RP4-694B14.5_ENST00000439498.1_RNA|RP4-694B14.5_ENST00000414393.1_RNA|ZNF337_ENST00000252979.5_Silent_p.F189F	p.F189F							4	1106	-								B4DSM2|Q9Y3Y5	Silent	SNP	ENST00000376436.1	37	c.567C>T	CCDS13174.1																																																																																				0.433	ZNF337-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078454.1			5	219	0	0	0	1	0	5	219					A	25657357	G	A	25657357	2	1	331	1	0	0	0	0	0	0	0	1	17850	1281	45	3		3	ZNF337	20	25657357	Silent	SNP	G	TCGA-KK-A7B4-01A-11D-A32B-08		25657357	37368163	39	16878											
HTR2C	3358	broad.mit.edu	37	chrX	113965773	113965773	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cagtagcagctatagtaactGacattttcaatacctccgat	13	12	6	10	1	1	1	1	1	0	0	2	2	2	1	2	0	4	4	2	0	6	7			TCGA-KK-A7B4-01A-11D-A32B-08	TCGA-KK-A7B4-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48f40308-4306-49e9-95a2-2f3d5430bb1c	def273a4-201d-40ba-81ca-df45a7320547	g.chrX:113965773G>A	ENST00000276198.1	+	4	834	c.106G>A	c.(106-108)Gac>Aac	p.D36N	HTR2C_ENST00000371950.3_Missense_Mutation_p.D36N|HTR2C_ENST00000371951.1_Missense_Mutation_p.D36N	NM_000868.2	NP_000859.1	P28335	5HT2C_HUMAN	5-hydroxytryptamine (serotonin) receptor 2C, G protein-coupled	36					behavioral fear response (GO:0001662)|cellular calcium ion homeostasis (GO:0006874)|cGMP biosynthetic process (GO:0006182)|feeding behavior (GO:0007631)|locomotory behavior (GO:0007626)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|phospholipase C-activating serotonin receptor signaling pathway (GO:0007208)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of phosphatidylinositol biosynthetic process (GO:0010513)|regulation of appetite (GO:0032098)|regulation of corticotropin-releasing hormone secretion (GO:0043397)|regulation of neurological system process (GO:0031644)|release of sequestered calcium ion into cytosol (GO:0051209)|response to drug (GO:0042493)|serotonin receptor signaling pathway (GO:0007210)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding (GO:0071886)|drug binding (GO:0008144)|Gq/11-coupled serotonin receptor activity (GO:0001587)|serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50					Agomelatine(DB06594)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Clomipramine(DB01242)|Clozapine(DB00363)|Cyproheptadine(DB00434)|Desipramine(DB01151)|Dexfenfluramine(DB01191)|Doxepin(DB01142)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Imipramine(DB00458)|Ketamine(DB01221)|Lisuride(DB00589)|Lorcaserin(DB04871)|Loxapine(DB00408)|Maprotiline(DB00934)|Methotrimeprazine(DB01403)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Pramipexole(DB00413)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Ropinirole(DB00268)|Sertindole(DB06144)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Yohimbine(DB01392)|Ziprasidone(DB00246)	TATAGTAACTGACATTTTCAA	0.398																																						ENST00000276198.1																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50						c.(106-108)Gac>Aac		5-hydroxytryptamine (serotonin) receptor 2C, G protein-coupled	Chlorprothixene(DB01239)|Clozapine(DB00363)|Dexfenfluramine(DB01191)|Fenfluramine(DB00574)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Sertindole(DB06144)|Thiethylperazine(DB00372)|Tramadol(DB00193)|Ziprasidone(DB00246)						119	111	114					X																	113965773		2203	4300	6503	SO:0001583	missense	3358				cGMP biosynthetic process|ERK1 and ERK2 cascade|feeding behavior|phosphatidylinositol biosynthetic process|release of sequestered calcium ion into cytosol|response to drug|synaptic transmission	cytoplasm|integral to membrane|nucleus|plasma membrane	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding|drug binding|phosphatidylinositol phospholipase C activity|protein binding|serotonin binding|serotonin receptor activity	g.chrX:113965773G>A		CCDS14564.1, CCDS59174.1	Xq23	2013-12-19	2012-02-03		ENSG00000147246	ENSG00000147246		"5-HT (serotonin) receptors", "GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"	5295	protein-coding gene	gene with protein product		312861	"5-hydroxytryptamine (serotonin) receptor 2C"	HTR1C		7895773	Standard	NM_000868		Approved	5-HT2C, 5HTR2C	uc004epu.1	P28335	OTTHUMG00000022226	ENST00000276198.1:c.106G>A	X.37:g.113965773G>A	ENSP00000276198:p.Asp36Asn					HTR2C_ENST00000371951.1_Missense_Mutation_p.D36N|HTR2C_ENST00000371950.3_Missense_Mutation_p.D36N	p.D36N	NM_000868.2	NP_000859.1	P28335	5HT2C_HUMAN			4	834	+			36					B1AMW4|Q5VUF8|Q9NP28	Missense_Mutation	SNP	ENST00000276198.1	37	c.106G>A	CCDS14564.1	.	.	.	.	.	.	.	.	.	.	G	19.70	3.877090	0.72180	.	.	ENSG00000147246	ENST00000276198;ENST00000371951;ENST00000371950	T;T;T	0.58652	0.32;0.32;0.49	5.03	5.03	0.67393	.	0.152770	0.44902	D	0.000420	T	0.55545	0.1927	N	0.14661	0.345	0.42341	D	0.992331	D;D	0.69078	0.997;0.99	P;P	0.60789	0.879;0.58	T	0.54289	-0.8316	10	0.26408	T	0.33	.	14.796	0.69878	0.0:0.0:1.0:0.0	.	36;36	B1AMW4;P28335	.;5HT2C_HUMAN	N	36	ENSP00000276198:D36N;ENSP00000361019:D36N;ENSP00000361018:D36N	ENSP00000276198:D36N	D	+	1	0	HTR2C	113872029	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	4.059000	0.57470	2.466000	0.83321	0.594000	0.82650	GAC		0.398	HTR2C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057962.1	NM_000868		4	81	0	0	0	1	0	4	81					A	113965773	G	A	113965773	3	1	331	1	0	0	0	0	1	0	0	0	7443	1290	45	3	112	3	HTR2C	23	113965773	Missense_Mutation	SNP	G	TCGA-KK-A7B4-01A-11D-A32B-08		113965773	41304787	40	16879			1	38		2	2	42	N	G_A	5.297573e-05
HTR2C	3358	broad.mit.edu	37	chrX	113965814	113965814	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtggacgcttcaaattcccAgacggggtacaaaactggcc	11	7	12	11	2	1	1	1	0	0	1	2	2	2	2	2	5	2	2	2	5	4	3			TCGA-KK-A7B4-01A-11D-A32B-08	TCGA-KK-A7B4-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48f40308-4306-49e9-95a2-2f3d5430bb1c	def273a4-201d-40ba-81ca-df45a7320547	g.chrX:113965814A>C	ENST00000276198.1	+	4	875	c.147A>C	c.(145-147)ccA>ccC	p.P49P	HTR2C_ENST00000371950.3_Silent_p.P49P|HTR2C_ENST00000371951.1_Silent_p.P49P	NM_000868.2	NP_000859.1	P28335	5HT2C_HUMAN	5-hydroxytryptamine (serotonin) receptor 2C, G protein-coupled	49					behavioral fear response (GO:0001662)|cellular calcium ion homeostasis (GO:0006874)|cGMP biosynthetic process (GO:0006182)|feeding behavior (GO:0007631)|locomotory behavior (GO:0007626)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|phospholipase C-activating serotonin receptor signaling pathway (GO:0007208)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of phosphatidylinositol biosynthetic process (GO:0010513)|regulation of appetite (GO:0032098)|regulation of corticotropin-releasing hormone secretion (GO:0043397)|regulation of neurological system process (GO:0031644)|release of sequestered calcium ion into cytosol (GO:0051209)|response to drug (GO:0042493)|serotonin receptor signaling pathway (GO:0007210)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding (GO:0071886)|drug binding (GO:0008144)|Gq/11-coupled serotonin receptor activity (GO:0001587)|serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50					Agomelatine(DB06594)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Clomipramine(DB01242)|Clozapine(DB00363)|Cyproheptadine(DB00434)|Desipramine(DB01151)|Dexfenfluramine(DB01191)|Doxepin(DB01142)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Imipramine(DB00458)|Ketamine(DB01221)|Lisuride(DB00589)|Lorcaserin(DB04871)|Loxapine(DB00408)|Maprotiline(DB00934)|Methotrimeprazine(DB01403)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Pramipexole(DB00413)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Ropinirole(DB00268)|Sertindole(DB06144)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Yohimbine(DB01392)|Ziprasidone(DB00246)	TCAAATTCCCAGACGGGGTAC	0.433																																						ENST00000276198.1																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50						c.(145-147)ccA>ccC		5-hydroxytryptamine (serotonin) receptor 2C, G protein-coupled	Chlorprothixene(DB01239)|Clozapine(DB00363)|Dexfenfluramine(DB01191)|Fenfluramine(DB00574)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Sertindole(DB06144)|Thiethylperazine(DB00372)|Tramadol(DB00193)|Ziprasidone(DB00246)						144	128	134					X																	113965814		2203	4300	6503	SO:0001819	synonymous_variant	3358				cGMP biosynthetic process|ERK1 and ERK2 cascade|feeding behavior|phosphatidylinositol biosynthetic process|release of sequestered calcium ion into cytosol|response to drug|synaptic transmission	cytoplasm|integral to membrane|nucleus|plasma membrane	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding|drug binding|phosphatidylinositol phospholipase C activity|protein binding|serotonin binding|serotonin receptor activity	g.chrX:113965814A>C		CCDS14564.1, CCDS59174.1	Xq23	2013-12-19	2012-02-03		ENSG00000147246	ENSG00000147246		"5-HT (serotonin) receptors", "GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"	5295	protein-coding gene	gene with protein product		312861	"5-hydroxytryptamine (serotonin) receptor 2C"	HTR1C		7895773	Standard	NM_000868		Approved	5-HT2C, 5HTR2C	uc004epu.1	P28335	OTTHUMG00000022226	ENST00000276198.1:c.147A>C	X.37:g.113965814A>C						HTR2C_ENST00000371951.1_Silent_p.P49P|HTR2C_ENST00000371950.3_Silent_p.P49P	p.P49P	NM_000868.2	NP_000859.1	P28335	5HT2C_HUMAN			4	875	+			49					B1AMW4|Q5VUF8|Q9NP28	Silent	SNP	ENST00000276198.1	37	c.147A>C	CCDS14564.1																																																																																				0.433	HTR2C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057962.1	NM_000868		8	73	0	0	0	1	0	8	73					C	113965814	A	C	113965814	2	2	331	1	0	0	0	0	0	0	0	1	7443	175	7	5		5	HTR2C	23	113965814	Silent	SNP	A	TCGA-KK-A7B4-01A-11D-A32B-08	41	113965814	41304746	41	16880			1	38		2	2	42	N	G_A	5.297573e-05
MMEL1	79258	broad.mit.edu	37	chr1	2537012	2537012	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccaccttccggttgctgccGccgttgaagtagtactctcg	5	11	10	15	4	1	1	0	1	1	0	3	1	2	1	5	1	3	5	5	1	3	5			TCGA-KK-A8I4-01A-11D-A364-08	TCGA-KK-A8I4-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9dce7b79-9898-4034-bf5a-463e3eba9f39	7b5c45f2-39e1-4da3-af33-4b8f35de09c7	g.chr1:2537012G>A	ENST00000378412.3	-	9	962	c.801C>T	c.(799-801)ggC>ggT	p.G267G	MMEL1_ENST00000288709.6_Silent_p.G258G|MMEL1_ENST00000502556.1_Intron			Q495T6	MMEL1_HUMAN	membrane metallo-endopeptidase-like 1	267						endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|urinary_tract(1)	27	all_cancers(77;0.000233)|all_epithelial(69;8.55e-05)|all_lung(157;0.0228)|Lung NSC(156;0.0402)|Ovarian(185;0.0634)	all_epithelial(116;1.03e-20)|all_lung(118;5.15e-09)|Lung NSC(185;9.02e-07)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;8.52e-23)|GBM - Glioblastoma multiforme(42;1.49e-08)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;0.000213)|Kidney(185;0.000371)|BRCA - Breast invasive adenocarcinoma(365;0.00219)|KIRC - Kidney renal clear cell carcinoma(229;0.00571)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.131)		GGTTGCTGCCGCCGTTGAAGT	0.652																																						ENST00000288709.6																			0				cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|urinary_tract(1)	27						c.(772-774)ggC>ggT		membrane metallo-endopeptidase-like 1							65	68	67					1																	2537012		2203	4300	6503	SO:0001819	synonymous_variant	79258				proteolysis	extracellular region|integral to membrane|intracellular membrane-bounded organelle	metal ion binding|metalloendopeptidase activity	g.chr1:2537012G>A	AF336981	CCDS30569.1, CCDS30569.2	1p36	2008-02-05			ENSG00000142606	ENSG00000142606			14668	protein-coding gene	gene with protein product			"membrane metallo-endopeptidase-like 2"	MMEL2			Standard	NM_033467		Approved	SEP, NL1, NL2, NEPII	uc001ajy.2	Q495T6	OTTHUMG00000000846	ENST00000378412.3:c.801C>T	1.37:g.2537012G>A						MMEL1_ENST00000502556.1_Intron|MMEL1_ENST00000378412.3_Silent_p.G267G	p.G258G	NM_033467.3	NP_258428.2	Q495T6	MMEL1_HUMAN		Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;8.52e-23)|GBM - Glioblastoma multiforme(42;1.49e-08)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;0.000213)|Kidney(185;0.000371)|BRCA - Breast invasive adenocarcinoma(365;0.00219)|KIRC - Kidney renal clear cell carcinoma(229;0.00571)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.131)	9	1014	-	all_cancers(77;0.000233)|all_epithelial(69;8.55e-05)|all_lung(157;0.0228)|Lung NSC(156;0.0402)|Ovarian(185;0.0634)	all_epithelial(116;1.03e-20)|all_lung(118;5.15e-09)|Lung NSC(185;9.02e-07)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)	267					B9DI79|Q495T7|Q495T8|Q5SZS6|Q96PH9	Silent	SNP	ENST00000378412.3	37	c.774C>T	CCDS30569.2																																																																																				0.652	MMEL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000002395.2	NM_033467		4	45	0	0	0	1	0	4	45					A	2537012	G	A	2537012	2	1	332	1	0	0	0	0	0	0	0	1	9646	1074	38	1		1	MMEL1	1	2537012	Silent	SNP	G	TCGA-KK-A8I4-01A-11D-A364-08		2537012	246713609	1	16881											
HSD3B2	3284	broad.mit.edu	37	chr1	119964584	119964584	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aaaacacatggcccactccaTacccgtacagcaaaaagctt	16	6	5	14	1	0	0	0	0	0	0	1	0	1	0	3	1	5	3	3	1	6	3			TCGA-KK-A8I4-01A-11D-A364-08	TCGA-KK-A8I4-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9dce7b79-9898-4034-bf5a-463e3eba9f39	7b5c45f2-39e1-4da3-af33-4b8f35de09c7	g.chr1:119964584T>C	ENST00000543831.1	+	4	709	c.460T>C	c.(460-462)Tac>Cac	p.Y154H	HSD3B2_ENST00000369416.3_Missense_Mutation_p.Y154H	NM_001166120.1	NP_001159592.1	P26439	3BHS2_HUMAN	hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2	154					androgen biosynthetic process (GO:0006702)|glucocorticoid biosynthetic process (GO:0006704)|mineralocorticoid biosynthetic process (GO:0006705)|small molecule metabolic process (GO:0044281)|steroid biosynthetic process (GO:0006694)|steroid metabolic process (GO:0008202)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrial membrane (GO:0031966)|smooth endoplasmic reticulum membrane (GO:0030868)	3-beta-hydroxy-delta5-steroid dehydrogenase activity (GO:0003854)|steroid delta-isomerase activity (GO:0004769)			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(19)|ovary(2)|skin(1)	27	all_neural(166;0.187)	all_lung(203;1.06e-06)|Lung NSC(69;7.5e-06)|all_epithelial(167;0.000284)		Lung(183;0.015)|LUSC - Lung squamous cell carcinoma(189;0.0836)	Corticotropin(DB01285)|Medroxyprogesterone Acetate(DB00603)|Trilostane(DB01108)	GCCCACTCCATACCCGTACAG	0.507																																						ENST00000543831.1																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(19)|ovary(2)|skin(1)	27						c.(460-462)Tac>Cac		hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2	NADH(DB00157)|Trilostane(DB01108)						88	87	87					1																	119964584		2203	4300	6503	SO:0001583	missense	3284				androgen biosynthetic process|glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process	integral to membrane|microsome|mitochondrial inner membrane|mitochondrial intermembrane space|smooth endoplasmic reticulum membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|steroid delta-isomerase activity	g.chr1:119964584T>C	BC038419	CCDS902.1	1p12	2014-06-03			ENSG00000203859	ENSG00000203859	1.1.1.145, 5.3.3.1	"Short chain dehydrogenase/reductase superfamily / Extended SDR fold"	5218	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 11E, member 2"	613890				1363812, 19027726	Standard	NM_000198		Approved	SDR11E2	uc001eht.3	P26439	OTTHUMG00000012526	ENST00000543831.1:c.460T>C	1.37:g.119964584T>C	ENSP00000445122:p.Tyr154His					HSD3B2_ENST00000369416.3_Missense_Mutation_p.Y154H	p.Y154H	NM_001166120.1	NP_001159592.1	P26439	3BHS2_HUMAN		Lung(183;0.015)|LUSC - Lung squamous cell carcinoma(189;0.0836)	4	709	+	all_neural(166;0.187)	all_lung(203;1.06e-06)|Lung NSC(69;7.5e-06)|all_epithelial(167;0.000284)	154					A2RRA5|Q16010|Q53GD4|Q6AI10|Q6LDB9|Q99890|Q9UD08	Missense_Mutation	SNP	ENST00000543831.1	37	c.460T>C	CCDS902.1	.	.	.	.	.	.	.	.	.	.	-	14.33	2.503486	0.44558	.	.	ENSG00000203859	ENST00000543831;ENST00000433745;ENST00000369416	D;D;D	0.96774	-4.12;-4.12;-4.12	3.98	3.98	0.46160	3-beta hydroxysteroid dehydrogenase/isomerase (1);NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.98707	0.9566	H	0.98388	4.22	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99160	1.0861	9	.	.	.	-6.6302	12.0934	0.53739	0.0:0.0:0.0:1.0	.	154	P26439	3BHS2_HUMAN	H	154	ENSP00000445122:Y154H;ENSP00000388292:Y154H;ENSP00000358424:Y154H	.	Y	+	1	0	HSD3B2	119766107	1.000000	0.71417	0.695000	0.30226	0.005000	0.04900	5.316000	0.65815	1.463000	0.47967	0.248000	0.18094	TAC		0.507	HSD3B2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034994.1	NM_000198		59	110	0	0	0	1	0	59	110					C	119964584	T	C	119964584	3	2	332	1	0	0	0	0	1	0	0	0	7391	1406	49	4	470	4	HSD3B2	1	119964584	Missense_Mutation	SNP	T	TCGA-KK-A8I4-01A-11D-A364-08	117427572	119964584	129286037	2	16882											
RANBP2	5903	broad.mit.edu	37	chr2	109347896	109347897	+	Frame_Shift_Del	DEL	TT	TT	-																															gcttgaaagagcagccaaacTtttcccaggaagtcctgcaa																										TCGA-KK-A8I4-01A-11D-A364-08	TCGA-KK-A8I4-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9dce7b79-9898-4034-bf5a-463e3eba9f39	7b5c45f2-39e1-4da3-af33-4b8f35de09c7	g.chr2:109347896_109347897delTT	ENST00000283195.6	+	4	497_498	c.371_372delTT	c.(370-372)cttfs	p.L124fs		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	124					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|negative regulation of glucokinase activity (GO:0033132)|protein folding (GO:0006457)|protein import into nucleus (GO:0006606)|protein sumoylation (GO:0016925)|regulation of gluconeogenesis involved in cellular glucose homeostasis (GO:0090526)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)	ligase activity (GO:0016874)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|Ran GTPase binding (GO:0008536)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)		RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						GCAGCCAAACTTTTCCCAGGAA	0.322																																						ENST00000283195.6																		RANBP2/ALK(34)	0				NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						c.(370-372)cfs		RAN binding protein 2																																				SO:0001589	frameshift_variant	5903				carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding	g.chr2:109347896_109347897delTT	D42063	CCDS2079.1	2q13	2013-11-14			ENSG00000153201	ENSG00000153201		"Tetratricopeptide (TTC) repeat domain containing"	9848	protein-coding gene	gene with protein product		601181	"acute necrotizing encephalopathy 1 (autosomal dominant)"	ANE1		7724562, 19118815	Standard	NM_006267		Approved	NUP358, ADANE	uc002tem.4	P49792	OTTHUMG00000130981	ENST00000283195.6:c.371_372delTT	2.37:g.109347898_109347899delTT	ENSP00000283195:p.Leu124fs						p.L124fs	NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN			4	497_498	+			124					Q13074|Q15280|Q53TE2|Q59FH7	Frame_Shift_Del	DEL	ENST00000283195.6	37	c.371_372delTT	CCDS2079.1																																																																																				0.322	RANBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253594.1	NM_006267		26	215						26	215	---	---	---	---	-	109347897	TT	-	109347896	7	5	332	1	0	1	0	1	0	0	0	0	13028	1609	56	0	385	0	RANBP2	2	109347896	Frame_Shift_Del	DEL	TT	TCGA-KK-A8I4-01A-11D-A364-08		109347896	133851477	3	16883											
TTL	150465	broad.mit.edu	37	chr2	113260504	113260504	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgcagaagctgggtcttggtGgatcatcagtataatatcta	11	13	11	6	0	4	1	2	0	2	1	4	2	4	2	0	3	2	3	0	3	5	5			TCGA-KK-A8I4-01A-11D-A364-08	TCGA-KK-A8I4-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9dce7b79-9898-4034-bf5a-463e3eba9f39	7b5c45f2-39e1-4da3-af33-4b8f35de09c7	g.chr2:113260504G>A	ENST00000233336.6	+	5	812	c.621G>A	c.(619-621)gtG>gtA	p.V207V		NM_153712.4	NP_714923.1	Q8NG68	TTL_HUMAN	tubulin tyrosine ligase	207	TTL. {ECO:0000255|PROSITE- ProRule:PRU00568}.				cellular protein modification process (GO:0006464)|microtubule cytoskeleton organization (GO:0000226)|regulation of axon extension (GO:0030516)		ATP binding (GO:0005524)|tubulin-tyrosine ligase activity (GO:0004835)			breast(1)|large_intestine(2)|ovary(1)	4		Ovarian(717;0.024)		BRCA - Breast invasive adenocarcinoma(221;6.17e-07)|STAD - Stomach adenocarcinoma(1183;0.00644)		GGGTCTTGGTGGATCATCAGT	0.388			T	ETV6	ALL																																	ENST00000233336.5				Dom	yes		2	2q13	150465	T	tubulin tyrosine ligase			L	ETV6		ALL		0				breast(1)|large_intestine(2)|ovary(1)	4						c.(619-621)gtG>gtA		tubulin tyrosine ligase							103	104	104					2																	113260504		2203	4300	6503	SO:0001819	synonymous_variant	150465				protein modification process		ATP binding|tubulin-tyrosine ligase activity	g.chr2:113260504G>A		CCDS2096.1	2q13	2010-04-21			ENSG00000114999	ENSG00000114999	6.3.2.25		21586	protein-coding gene	gene with protein product		608291				11431336	Standard	NM_153712		Approved	MGC46235	uc002thu.3	Q8NG68	OTTHUMG00000131316	ENST00000233336.6:c.621G>A	2.37:g.113260504G>A							p.V207V	NM_153712.4	NP_714923.1	Q8NG68	TTL_HUMAN		BRCA - Breast invasive adenocarcinoma(221;6.17e-07)|STAD - Stomach adenocarcinoma(1183;0.00644)	5	812	+		Ovarian(717;0.024)	207			TTL.		Q585T3|Q7Z302|Q8N426	Silent	SNP	ENST00000233336.6	37	c.621G>A	CCDS2096.1																																																																																				0.388	TTL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254085.2	NM_153712		13	39	0	0	0	1	0	13	39					A	113260504	G	A	113260504	2	1	332	1	0	0	0	0	0	0	0	1	16718	1335	47	3		3	TTL	2	113260504	Silent	SNP	G	TCGA-KK-A8I4-01A-11D-A364-08	3912608	113260504	129938869	4	16884											
ANK2	287	broad.mit.edu	37	chr4	114275609	114275609	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtttcaccctccggaagaacGgacaagcaccaacctgtatc	12	7	8	14	2	1	1	1	0	0	1	3	3	2	3	4	2	3	3	4	2	5	2			TCGA-KK-A8I4-01A-11D-A364-08	TCGA-KK-A8I4-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9dce7b79-9898-4034-bf5a-463e3eba9f39	7b5c45f2-39e1-4da3-af33-4b8f35de09c7	g.chr4:114275609G>A	ENST00000357077.4	+	38	5888	c.5835G>A	c.(5833-5835)acG>acA	p.T1945T	ANK2_ENST00000509550.1_Intron|ANK2_ENST00000264366.6_Silent_p.T1912T|ANK2_ENST00000510275.2_Intron|ANK2_ENST00000394537.3_Intron|ANK2_ENST00000506722.1_Intron	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	1945	Repeat-rich region.				atrial cardiac muscle cell action potential (GO:0086014)|atrial cardiac muscle cell to AV node cell communication (GO:0086066)|atrial septum development (GO:0003283)|axon guidance (GO:0007411)|cardiac muscle contraction (GO:0060048)|cellular calcium ion homeostasis (GO:0006874)|cellular protein localization (GO:0034613)|membrane depolarization during SA node cell action potential (GO:0086046)|paranodal junction assembly (GO:0030913)|positive regulation of calcium ion transmembrane transporter activity (GO:1901021)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cation channel activity (GO:2001259)|positive regulation of gene expression (GO:0010628)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein localization to cell surface (GO:0034394)|protein localization to endoplasmic reticulum (GO:0070972)|protein localization to M-band (GO:0036309)|protein localization to organelle (GO:0033365)|protein localization to plasma membrane (GO:0072659)|protein localization to T-tubule (GO:0036371)|protein stabilization (GO:0050821)|protein targeting to plasma membrane (GO:0072661)|regulation of calcium ion transmembrane transporter activity (GO:1901019)|regulation of calcium ion transport (GO:0051924)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to methylmercury (GO:0051597)|SA node cell action potential (GO:0086015)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|T-tubule organization (GO:0033292)|ventricular cardiac muscle cell action potential (GO:0086005)	A band (GO:0031672)|basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intracellular (GO:0005622)|M band (GO:0031430)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|potassium channel regulator activity (GO:0015459)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		CCGGAAGAACGGACAAGCACC	0.532																																						ENST00000357077.4																			0				NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248						c.(5833-5835)acG>acA		ankyrin 2, neuronal							74	72	73					4																	114275609		2203	4300	6503	SO:0001819	synonymous_variant	287				axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding	g.chr4:114275609G>A	M37123	CCDS3702.1, CCDS43261.1, CCDS54796.1	4q25-q26	2014-09-17	2003-03-12		ENSG00000145362	ENSG00000145362		"Ankyrin repeat domain containing"	493	protein-coding gene	gene with protein product		106410	"long (electrocardiographic) QT syndrome 4"	LQT4		7485162, 12571597	Standard	NM_001148		Approved		uc003ibe.4	Q01484	OTTHUMG00000132912	ENST00000357077.4:c.5835G>A	4.37:g.114275609G>A						ANK2_ENST00000264366.6_Silent_p.T1912T|ANK2_ENST00000506722.1_Intron|ANK2_ENST00000510275.2_Intron|ANK2_ENST00000394537.3_Intron|ANK2_ENST00000509550.1_Intron	p.T1945T	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)	38	5888	+		Ovarian(17;0.0448)|Hepatocellular(203;0.218)	1912			Repeat-rich region.		Q01485|Q08AC7|Q08AC8|Q7Z3L5	Silent	SNP	ENST00000357077.4	37	c.5835G>A	CCDS3702.1																																																																																				0.532	ANK2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256422.2	NM_001148		26	57	0	0	0	1	0	26	57					A	114275609	G	A	114275609	2	1	332	1	0	0	0	0	0	0	0	1	621	1103	39	2		2	ANK2	4	114275609	Silent	SNP	G	TCGA-KK-A8I4-01A-11D-A364-08		114275609	76878667	5	16885											
HMGCS1	3157	broad.mit.edu	37	chr5	43296014	43296014	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	caaggtaaaatctttatcatTtccctctgaaagagaagtcc	14	12	6	9	0	3	2	1	1	2	1	5	3	5	2	2	1	0	1	2	1	6	4			TCGA-KK-A8I4-01A-11D-A364-08	TCGA-KK-A8I4-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9dce7b79-9898-4034-bf5a-463e3eba9f39	7b5c45f2-39e1-4da3-af33-4b8f35de09c7	g.chr5:43296014T>A	ENST00000325110.6	-	6	951	c.745A>T	c.(745-747)Aat>Tat	p.N249Y	HMGCS1_ENST00000433297.2_Missense_Mutation_p.N249Y	NM_001098272.2	NP_001091742.1	Q01581	HMCS1_HUMAN	3-hydroxy-3-methylglutaryl-CoA synthase 1 (soluble)	249					brain development (GO:0007420)|cellular lipid metabolic process (GO:0044255)|cellular response to cholesterol (GO:0071397)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cholesterol biosynthetic process (GO:0006695)|isoprenoid biosynthetic process (GO:0008299)|lipid metabolic process (GO:0006629)|liver development (GO:0001889)|male gonad development (GO:0008584)|response to acid chemical (GO:0001101)|response to drug (GO:0042493)|response to lipoprotein particle (GO:0055094)|response to low light intensity stimulus (GO:0009645)|response to purine-containing compound (GO:0014074)|response to tellurium ion (GO:0046690)|response to vitamin E (GO:0033197)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	drug binding (GO:0008144)|hydroxymethylglutaryl-CoA synthase activity (GO:0004421)|isomerase activity (GO:0016853)|organic acid binding (GO:0043177)			NS(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|stomach(1)|urinary_tract(1)	15						TCTTTATCATTTCCCTCTGAA	0.318																																						ENST00000325110.6																			0				NS(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|stomach(1)|urinary_tract(1)	15						c.(745-747)Aat>Tat		3-hydroxy-3-methylglutaryl-CoA synthase 1 (soluble)							54	56	56					5																	43296014		2203	4300	6503	SO:0001583	missense	3157				cholesterol biosynthetic process|isoprenoid biosynthetic process	cytosol|soluble fraction	hydroxymethylglutaryl-CoA synthase activity	g.chr5:43296014T>A		CCDS34154.1	5p14-p13	2012-10-02	2010-04-30			ENSG00000112972	2.3.3.10		5007	protein-coding gene	gene with protein product	"3-hydroxy-3-methylglutaryl coenzyme A (HMG-CoA) synthase"	142940	"3-hydroxy-3-methylglutaryl-Coenzyme A synthase 1 (soluble)"	HMGCS			Standard	NM_001098272		Approved		uc003jnq.5	Q01581		ENST00000325110.6:c.745A>T	5.37:g.43296014T>A	ENSP00000322706:p.Asn249Tyr					HMGCS1_ENST00000433297.2_Missense_Mutation_p.N249Y	p.N249Y	NM_001098272.2	NP_001091742.1	Q01581	HMCS1_HUMAN			6	951	-			249					B2RDL8	Missense_Mutation	SNP	ENST00000325110.6	37	c.745A>T	CCDS34154.1	.	.	.	.	.	.	.	.	.	.	T	14.67	2.604653	0.46423	.	.	ENSG00000112972	ENST00000325110;ENST00000433297;ENST00000545275	D;D	0.90563	-2.69;-2.69	5.77	5.77	0.91146	Hydroxymethylglutaryl-coenzyme A synthase C-terminal (1);Thiolase-like (1);	0.235100	0.48767	D	0.000168	D	0.87481	0.6188	L	0.39898	1.24	0.40800	D	0.983335	B	0.11235	0.004	B	0.10450	0.005	D	0.84102	0.0396	10	0.59425	D	0.04	-18.798	16.0934	0.81106	0.0:0.0:0.0:1.0	.	249	Q01581	HMCS1_HUMAN	Y	249;249;238	ENSP00000322706:N249Y;ENSP00000399402:N249Y	ENSP00000322706:N249Y	N	-	1	0	HMGCS1	43331771	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.081000	0.50120	2.207000	0.71202	0.477000	0.44152	AAT		0.318	HMGCS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368022.1			4	59	0	0	0	1	0	4	59					A	43296014	T	A	43296014	3	1	332	1	0	0	0	0	1	0	0	0	7232	1841	64	5	841	5	HMGCS1	5	43296014	Missense_Mutation	SNP	T	TCGA-KK-A8I4-01A-11D-A364-08		43296014	137619246	6	16886											
TBC1D9B	23061	broad.mit.edu	37	chr5	179296821	179296821	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcttctctgtcaggtccccGtggtacatcccgcctgtgga	5	11	11	14	2	2	0	1	0	1	0	5	1	4	1	4	3	2	2	4	3	1	2			TCGA-KK-A8I4-01A-11D-A364-08	TCGA-KK-A8I4-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9dce7b79-9898-4034-bf5a-463e3eba9f39	7b5c45f2-39e1-4da3-af33-4b8f35de09c7	g.chr5:179296821G>A	ENST00000356834.3	-	17	2776	c.2739C>T	c.(2737-2739)caC>caT	p.H913H	TBC1D9B_ENST00000518085.1_5'Flank|TBC1D9B_ENST00000444477.2_Silent_p.H71H|TBC1D9B_ENST00000519746.1_Silent_p.H89H|TBC1D9B_ENST00000355235.3_Silent_p.H913H	NM_198868.2	NP_942568.2	Q66K14	TBC9B_HUMAN	TBC1 domain family, member 9B (with GRAM domain)	913	EF-hand. {ECO:0000255|PROSITE- ProRule:PRU00448}.					integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|Rab GTPase activator activity (GO:0005097)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	28	all_cancers(89;0.000197)|all_epithelial(37;6.84e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0236)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TCAGGTCCCCGTGGTACATCC	0.637																																						ENST00000356834.3																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	28						c.(2737-2739)caC>caT		TBC1 domain family, member 9B (with GRAM domain)							113	96	102					5																	179296821		2203	4300	6503	SO:0001819	synonymous_variant	23061					integral to membrane|intracellular	calcium ion binding|Rab GTPase activator activity	g.chr5:179296821G>A	AB014576	CCDS4450.1, CCDS43408.1	5q35.3	2013-01-10			ENSG00000197226	ENSG00000197226		"EF-hand domain containing"	29097	protein-coding gene	gene with protein product						9734811	Standard	NM_198868		Approved	KIAA0676	uc003mlh.3	Q66K14	OTTHUMG00000130911	ENST00000356834.3:c.2739C>T	5.37:g.179296821G>A						TBC1D9B_ENST00000444477.2_Silent_p.H71H|TBC1D9B_ENST00000355235.3_Silent_p.H913H|TBC1D9B_ENST00000519746.1_Silent_p.H89H	p.H913H	NM_198868.2	NP_942568.2	Q66K14	TBC9B_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		17	2776	-	all_cancers(89;0.000197)|all_epithelial(37;6.84e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0236)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	913			EF-hand.		D3DWQ5|D3DWQ6|O75163|Q53EY0|Q6MZI2|Q96H49	Silent	SNP	ENST00000356834.3	37	c.2739C>T	CCDS43408.1																																																																																				0.637	TBC1D9B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253501.3	NM_015043		13	27	0	0	0	1	0	13	27					A	179296821	G	A	179296821	2	1	332	1	0	0	0	0	0	0	0	1	15625	1136	40	1		1	TBC1D9B	5	179296821	Silent	SNP	G	TCGA-KK-A8I4-01A-11D-A364-08	136000807	179296821	1618439	7	16887											
PRIM2	5558	broad.mit.edu	37	chr6	57372333	57372333	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcagtctgatgaaagacttCagcctctgctcaatcacctc	10	11	7	13	0	5	3	3	2	2	1	6	3	5	3	2	0	3	2	2	0	2	1			TCGA-KK-A8I4-01A-11D-A364-08	TCGA-KK-A8I4-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9dce7b79-9898-4034-bf5a-463e3eba9f39	7b5c45f2-39e1-4da3-af33-4b8f35de09c7	g.chr6:57372333C>A	ENST00000607273.1	+	8	826	c.739C>A	c.(739-741)Cag>Aag	p.Q247K	PRIM2_ENST00000389488.2_3'UTR	NM_000947.3	NP_000938.2	P49643	PRI2_HUMAN	primase, DNA, polypeptide 2 (58kDa)	247					DNA replication initiation (GO:0006270)|DNA replication, synthesis of RNA primer (GO:0006269)|DNA strand elongation involved in DNA replication (GO:0006271)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)	nucleoplasm (GO:0005654)|primosome complex (GO:1990077)	4 iron, 4 sulfur cluster binding (GO:0051539)|DNA binding (GO:0003677)|DNA primase activity (GO:0003896)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(34)|prostate(6)|stomach(4)|upper_aerodigestive_tract(1)	59				Colorectal(6;0.041)|READ - Rectum adenocarcinoma(7;0.193)		TGAAAGACTTCAGCCTCTGCT	0.403																																						ENST00000607273.1																			0				NS(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(34)|prostate(6)|stomach(4)|upper_aerodigestive_tract(1)	59						c.(739-741)Cag>Aag		primase, DNA, polypeptide 2 (58kDa)							137	122	127					6																	57372333		1922	4151	6073	SO:0001583	missense	5558				DNA replication, synthesis of RNA primer|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	alpha DNA polymerase:primase complex|nucleoplasm	4 iron, 4 sulfur cluster binding|DNA binding|DNA primase activity|metal ion binding	g.chr6:57372333C>A		CCDS75476.1, CCDS75477.1	6p12-p11.1	2013-01-31	2007-06-19	2007-06-19	ENSG00000146143	ENSG00000146143			9370	protein-coding gene	gene with protein product		176636	"primase, polypeptide 2A (58kD)", "primase, polypeptide 2A, 58kDa"	PRIM2A		8530050, 20675616	Standard	NM_001282487		Approved		uc003pdx.3	P49643	OTTHUMG00000016190	ENST00000607273.1:c.739C>A	6.37:g.57372333C>A	ENSP00000475738:p.Gln247Lys					PRIM2_ENST00000389488.2_3'UTR	p.Q247K	NM_000947.2	NP_000938.2	P49643	PRI2_HUMAN		Colorectal(6;0.041)|READ - Rectum adenocarcinoma(7;0.193)	8	826	+			247					Q53FJ8|Q6P1Q7|Q8WVL2|Q9H413	Missense_Mutation	SNP	ENST00000607273.1	37	c.739C>A																																																																																					0.403	PRIM2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_000947		4	41	1	0	1.23904e-05	1	1.28961e-05	4	41					A	57372333	C	A	57372333	3	1	332	1	0	0	0	0	1	0	0	0	12491	827	29	5	765	5	PRIM2	6	57372333	Missense_Mutation	SNP	C	TCGA-KK-A8I4-01A-11D-A364-08		57372333	113742734	8	16888											
FEZF1	389549	broad.mit.edu	37	chr7	121942294	121942294	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caggtgaaaggcttcttgtcGttgtgggtgtgcatgtggaa	7	13	16	5	1	1	1	0	1	1	0	2	2	1	2	0	4	1	3	0	4	2	3			TCGA-KK-A8I4-01A-11D-A364-08	TCGA-KK-A8I4-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9dce7b79-9898-4034-bf5a-463e3eba9f39	7b5c45f2-39e1-4da3-af33-4b8f35de09c7	g.chr7:121942294G>A	ENST00000442488.2	-	4	1252	c.1185C>T	c.(1183-1185)aaC>aaT	p.N395N	FEZF1_ENST00000427185.2_Silent_p.N345N|FEZF1_ENST00000331178.4_Silent_p.N391N|FEZF1-AS1_ENST00000437317.1_RNA|FEZF1-AS1_ENST00000428449.1_RNA	NM_001024613.2|NM_001160264.1	NP_001019784.2|NP_001153736.1	A0PJY2	FEZF1_HUMAN	FEZ family zinc finger 1	395					axon guidance (GO:0007411)|forebrain anterior/posterior pattern specification (GO:0021797)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|olfactory bulb development (GO:0021772)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)			breast(1)|large_intestine(3)|lung(18)|ovary(2)|prostate(1)	25						GCTTCTTGTCGTTGTGGGTGT	0.547																																						ENST00000442488.2																			0				breast(1)|large_intestine(3)|lung(18)|ovary(2)|prostate(1)	25						c.(1183-1185)aaC>aaT		FEZ family zinc finger 1							195	159	172					7																	121942294		2203	4300	6503	SO:0001819	synonymous_variant	389549				cell differentiation|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:121942294G>A	AY726588	CCDS34741.1, CCDS34741.2, CCDS55157.1	7q31.32	2013-01-08	2006-08-15	2006-08-15	ENSG00000128610	ENSG00000128610		"Zinc fingers, C2H2-type"	22788	protein-coding gene	gene with protein product		613301	"zinc finger protein 312B"	ZNF312B			Standard	NM_001024613		Approved		uc003vkd.3	A0PJY2	OTTHUMG00000157091	ENST00000442488.2:c.1185C>T	7.37:g.121942294G>A						FEZF1_ENST00000427185.2_Silent_p.N345N|FEZF1_ENST00000331178.4_Silent_p.N391N	p.N395N	NM_001024613.2|NM_001160264.1	NP_001019784.2|NP_001153736.1	A0PJY2	FEZF1_HUMAN			4	1252	-			395					A0PJY3|A4D0W3|B4DUP9|B7ZM98	Silent	SNP	ENST00000442488.2	37	c.1185C>T	CCDS34741.2																																																																																				0.547	FEZF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347410.1	NM_001024613		5	113	0	0	0	1	0	5	113					A	121942294	G	A	121942294	2	1	332	1	0	0	0	0	0	0	0	1	5825	1136	40	1		1	FEZF1	7	121942294	Silent	SNP	G	TCGA-KK-A8I4-01A-11D-A364-08		121942294	37196369	9	16889											
IFNB1	3456	broad.mit.edu	37	chr9	21077860	21077860	+	Frame_Shift_Del	DEL	G	G	-																															gcaatttggaggagacacttGttggtcatgttgacaacacg																										TCGA-KK-A8I4-01A-11D-A364-08	TCGA-KK-A8I4-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9dce7b79-9898-4034-bf5a-463e3eba9f39	7b5c45f2-39e1-4da3-af33-4b8f35de09c7	g.chr9:21077860delG	ENST00000380232.2	-	1	83	c.9delC	c.(7-9)aacfs	p.N3fs		NM_002176.2	NP_002167.1	P01574	IFNB_HUMAN	interferon, beta 1, fibroblast	3					adaptive immune response (GO:0002250)|B cell activation involved in immune response (GO:0002312)|B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|blood coagulation (GO:0007596)|cell surface receptor signaling pathway (GO:0007166)|cellular response to exogenous dsRNA (GO:0071360)|cellular response to interferon-beta (GO:0035458)|cytokine-mediated signaling pathway (GO:0019221)|defense response to bacterium (GO:0042742)|defense response to virus (GO:0051607)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|natural killer cell activation (GO:0030101)|natural killer cell activation involved in immune response (GO:0002323)|negative regulation of T cell differentiation (GO:0045581)|negative regulation of T-helper 2 cell cytokine production (GO:2000552)|negative regulation of viral genome replication (GO:0045071)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of innate immune response (GO:0045089)|positive regulation of peptidyl-serine phosphorylation of STAT protein (GO:0033141)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of MHC class I biosynthetic process (GO:0045343)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to exogenous dsRNA (GO:0043330)|response to virus (GO:0009615)|T cell activation involved in immune response (GO:0002286)|type I interferon signaling pathway (GO:0060337)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	cytokine activity (GO:0005125)|type I interferon receptor binding (GO:0005132)			breast(3)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)	12				GBM - Glioblastoma multiforme(5;7.45e-142)|Lung(24;2.42e-17)|LUSC - Lung squamous cell carcinoma(38;7.17e-11)		GGAGACACTTGTTGGTCATGT	0.458																																						ENST00000380232.2																			0				breast(3)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)	12						c.(7-9)aafs		interferon, beta 1, fibroblast	Interferon beta-1a(DB00060)|Interferon beta-1b(DB00068)						37	36	37					9																	21077860		2203	4299	6502	SO:0001589	frameshift_variant	3456				activation of caspase activity|B cell proliferation|blood coagulation|cellular response to exogenous dsRNA|defense response to virus|induction of apoptosis|natural killer cell activation|negative regulation of cell proliferation|negative regulation of T cell differentiation|negative regulation of T-helper 2 cell cytokine production|negative regulation of viral genome replication|negative regulation of viral transcription|negative regulation of virion penetration into host cell|positive regulation of innate immune response|positive regulation of transcription from RNA polymerase II promoter|regulation of MHC class I biosynthetic process|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|interferon-alpha/beta receptor binding|transcription corepressor activity	g.chr9:21077860delG		CCDS6495.1	9p22	2008-07-21			ENSG00000171855	ENSG00000171855		"Interferons"	5434	protein-coding gene	gene with protein product		147640		IFNB			Standard	NM_002176		Approved	IFB, IFF	uc003zok.3	P01574	OTTHUMG00000019652	ENST00000380232.2:c.9delC	9.37:g.21077860delG	ENSP00000369581:p.Asn3fs						p.N3fs	NM_002176.2	NP_002167.1	P01574	IFNB_HUMAN		GBM - Glioblastoma multiforme(5;7.45e-142)|Lung(24;2.42e-17)|LUSC - Lung squamous cell carcinoma(38;7.17e-11)	1	83	-			3					Q5VWC9	Frame_Shift_Del	DEL	ENST00000380232.2	37	c.9delC	CCDS6495.1																																																																																				0.458	IFNB1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051881.1	NM_002176		7	32						7	32	---	---	---	---	-	21077860	G	-	21077860	7	5	332	1	0	1	0	1	0	0	0	0	7546	1368	48	0	558	0	IFNB1	9	21077860	Frame_Shift_Del	DEL	G	TCGA-KK-A8I4-01A-11D-A364-08		21077860	120135571	10	16890											
HSPA5	3309	broad.mit.edu	37	chr9	128003114	128003115	+	Frame_Shift_Del	DEL	AT	AT	-																															ccttcaggagtgaaggcgacAtaggacggcgtgatgcggtt																								rs377512653		TCGA-KK-A8I4-01A-11D-A364-08	TCGA-KK-A8I4-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9dce7b79-9898-4034-bf5a-463e3eba9f39	7b5c45f2-39e1-4da3-af33-4b8f35de09c7	g.chr9:128003114_128003115delAT	ENST00000324460.6	-	2	397_398	c.194_195delAT	c.(193-195)tatfs	p.Y65fs	RP11-65N13.8_ENST00000468244.1_RNA	NM_005347.4	NP_005338.1	P11021	GRP78_HUMAN	heat shock 70kDa protein 5 (glucose-regulated protein, 78kDa)	65					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|cellular response to antibiotic (GO:0071236)|cellular response to glucose starvation (GO:0042149)|cellular response to interleukin-4 (GO:0071353)|cerebellar Purkinje cell layer development (GO:0021680)|cerebellum structural organization (GO:0021589)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER overload response (GO:0006983)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|maintenance of protein localization in endoplasmic reticulum (GO:0035437)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of cell migration (GO:0030335)|positive regulation of protein ubiquitination (GO:0031398)|regulation of protein folding in endoplasmic reticulum (GO:0060904)|substantia nigra development (GO:0021762)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum chaperone complex (GO:0034663)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)|midbody (GO:0030496)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|chaperone binding (GO:0051087)|enzyme binding (GO:0019899)|glycoprotein binding (GO:0001948)|misfolded protein binding (GO:0051787)|protein domain specific binding (GO:0019904)|ribosome binding (GO:0043022)|ubiquitin protein ligase binding (GO:0031625)|unfolded protein binding (GO:0051082)			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(4)|prostate(2)|skin(1)	23					Acetylsalicylic acid(DB00945)|Antihemophilic Factor(DB00025)	TGAAGGCGACATAGGACGGCGT	0.599										Prostate(1;0.17)																												ENST00000324460.6																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(4)|prostate(2)|skin(1)	23						c.(193-195)tfs		heat shock 70kDa protein 5 (glucose-regulated protein, 78kDa)	Antihemophilic Factor(DB00025)																																			SO:0001589	frameshift_variant	3309				anti-apoptosis|cellular response to glucose starvation|ER-associated protein catabolic process|platelet activation|platelet degranulation|regulation of protein folding in endoplasmic reticulum	cell surface|endoplasmic reticulum chaperone complex|endoplasmic reticulum lumen|ER-Golgi intermediate compartment|integral to endoplasmic reticulum membrane|melanosome|midbody|nucleus|perinuclear region of cytoplasm	ATP binding|ATPase activity|calcium ion binding|caspase inhibitor activity|chaperone binding|misfolded protein binding|protein binding, bridging|protein domain specific binding|ubiquitin protein ligase binding|unfolded protein binding	g.chr9:128003114_128003115delAT		CCDS6863.1	9q33.3	2011-09-02	2002-08-29		ENSG00000044574	ENSG00000044574		"Heat shock proteins / HSP70"	5238	protein-coding gene	gene with protein product		138120	"heat shock 70kD protein 5 (glucose-regulated protein, 78kD)"	GRP78			Standard	NM_005347		Approved	BiP	uc004bpn.3	P11021	OTTHUMG00000020672	ENST00000324460.6:c.194_195delAT	9.37:g.128003114_128003115delAT	ENSP00000324173:p.Tyr65fs	Prostate(1;0.17)					p.Y65fs	NM_005347.4	NP_005338.1	P11021	GRP78_HUMAN			2	397_398	-			65					B0QZ61|Q2EF78|Q9NPF1|Q9UK02	Frame_Shift_Del	DEL	ENST00000324460.6	37	c.194_195delAT	CCDS6863.1																																																																																				0.599	HSPA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054062.1			26	60						26	60	---	---	---	---	-	128003115	AT	-	128003114	7	5	332	1	0	1	0	1	0	0	0	0	7414	224	8	0	1797	0	HSPA5	9	128003114	Frame_Shift_Del	DEL	AT	TCGA-KK-A8I4-01A-11D-A364-08	106925254	128003114	13210317	11	16891											
SIPA1	6494	broad.mit.edu	37	chr11	65413798	65413798	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgctcgcacttccagcacgTgttcctagtggtgcgggcac	5	9	12	15	4	0	0	0	0	0	0	3	0	2	0	3	2	2	5	3	2	1	3			TCGA-KK-A8I4-01A-11D-A364-08	TCGA-KK-A8I4-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9dce7b79-9898-4034-bf5a-463e3eba9f39	7b5c45f2-39e1-4da3-af33-4b8f35de09c7	g.chr11:65413798T>C	ENST00000394224.3	+	7	1666	c.1370T>C	c.(1369-1371)gTg>gCg	p.V457A	SIPA1_ENST00000394227.3_Missense_Mutation_p.V457A|MIR4489_ENST00000578869.1_RNA|SIPA1_ENST00000534313.1_Missense_Mutation_p.V457A|SIPA1_ENST00000527525.1_Missense_Mutation_p.V457A	NM_153253.29	NP_694985.29	Q96FS4	SIPA1_HUMAN	signal-induced proliferation-associated 1	457	Rap-GAP. {ECO:0000255|PROSITE- ProRule:PRU00165}.				cell proliferation (GO:0008283)|cellular response to water deprivation (GO:0042631)|cytoskeleton organization (GO:0007010)|intracellular signal transduction (GO:0035556)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell growth (GO:0030308)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Rap GTPase activity (GO:0032854)|signal transduction (GO:0007165)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|protein complex (GO:0043234)|transport vesicle (GO:0030133)	GTPase activator activity (GO:0005096)|Rap GTPase activator activity (GO:0046582)			cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	10						TTCCAGCACGTGTTCCTAGTG	0.642																																						ENST00000394224.3																			0				cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	10						c.(1369-1371)gTg>gCg		signal-induced proliferation-associated 1							107	92	97					11																	65413798		2201	4297	6498	SO:0001583	missense	6494				cell proliferation|cytoskeleton organization|intracellular signal transduction|negative regulation of cell adhesion|negative regulation of cell cycle|negative regulation of cell growth	cytosol|endomembrane system|membrane|perinuclear region of cytoplasm	Rap GTPase activator activity	g.chr11:65413798T>C	AH006363, BC010492, BM677738	CCDS8108.1	11q13.3	2008-09-12	2008-09-12		ENSG00000213445	ENSG00000213445			10885	protein-coding gene	gene with protein product		602180				9027487	Standard	NM_006747		Approved	SPA1	uc001ofb.2	Q96FS4	OTTHUMG00000166541	ENST00000394224.3:c.1370T>C	11.37:g.65413798T>C	ENSP00000377771:p.Val457Ala					SIPA1_ENST00000527525.1_Missense_Mutation_p.V457A|SIPA1_ENST00000394227.3_Missense_Mutation_p.V457A|SIPA1_ENST00000534313.1_Missense_Mutation_p.V457A	p.V457A	NM_153253.29	NP_694985.29	Q96FS4	SIPA1_HUMAN			7	1666	+			457			Rap-GAP.		O14518|O60484|O60618|Q2YD83	Missense_Mutation	SNP	ENST00000394224.3	37	c.1370T>C	CCDS8108.1	.	.	.	.	.	.	.	.	.	.	T	11.54	1.670553	0.29693	.	.	ENSG00000213445	ENST00000534313;ENST00000527525;ENST00000394224;ENST00000394227	D;D;D;D	0.95103	-3.61;-3.61;-3.61;-3.61	4.03	2.87	0.33458	Rap/ran-GAP (2);	0.138572	0.27558	U	0.018822	D	0.92303	0.7558	M	0.64997	1.995	0.32777	N	0.503052	B;B	0.21905	0.062;0.006	B;B	0.28638	0.092;0.016	D	0.91513	0.5228	10	0.87932	D	0	-2.8496	8.965	0.35872	0.0:0.0:0.1881:0.8119	.	457;457	F6RY50;Q96FS4	.;SIPA1_HUMAN	A	457	ENSP00000436269:V457A;ENSP00000433686:V457A;ENSP00000377771:V457A;ENSP00000377774:V457A	ENSP00000377771:V457A	V	+	2	0	SIPA1	65170374	0.994000	0.37717	0.176000	0.23000	0.224000	0.24922	3.232000	0.51302	0.702000	0.31825	0.379000	0.24179	GTG		0.642	SIPA1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390356.1	NM_006747		8	44	0	0	0	1	0	8	44					C	65413798	T	C	65413798	3	2	332	1	0	0	0	0	1	0	0	0	14328	1696	59	4	1392	4	SIPA1	11	65413798	Missense_Mutation	SNP	T	TCGA-KK-A8I4-01A-11D-A364-08		65413798	69592718	12	16892											
CAPN5	726	broad.mit.edu	37	chr11	76823690	76823690	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgaaaagcccaacgcctacgCgggcatcttccacttccact	10	7	7	17	4	1	0	0	0	1	0	3	1	3	0	4	1	3	1	4	1	4	3			TCGA-KK-A8I4-01A-11D-A364-08	TCGA-KK-A8I4-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9dce7b79-9898-4034-bf5a-463e3eba9f39	7b5c45f2-39e1-4da3-af33-4b8f35de09c7	g.chr11:76823690C>T	ENST00000278559.3	+	4	542	c.353C>T	c.(352-354)gCg>gTg	p.A118V	CAPN5_ENST00000531028.1_Intron|CAPN5_ENST00000529629.1_Missense_Mutation_p.A118V|CAPN5_ENST00000456580.2_Missense_Mutation_p.A158V	NM_004055.4	NP_004046.2	O15484	CAN5_HUMAN	calpain 5	118	Calpain catalytic. {ECO:0000255|PROSITE- ProRule:PRU00239}.				proteolysis (GO:0006508)|signal transduction (GO:0007165)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)	calcium-dependent cysteine-type endopeptidase activity (GO:0004198)			NS(1)|breast(2)|endometrium(2)|large_intestine(7)|lung(17)|urinary_tract(1)	30						AACGCCTACGCGGGCATCTTC	0.612																																						ENST00000278559.3																			0				NS(1)|breast(2)|endometrium(2)|large_intestine(7)|lung(17)|urinary_tract(1)	30						c.(352-354)gCg>gTg		calpain 5							111	94	100					11																	76823690		2200	4292	6492	SO:0001583	missense	726				proteolysis|signal transduction	intracellular	calcium-dependent cysteine-type endopeptidase activity	g.chr11:76823690C>T		CCDS8248.1	11q14	2014-01-29				ENSG00000149260			1482	protein-coding gene	gene with protein product		602537	"vitreoretinopathy, neovascular inflammatory"	VRNI		9503024, 9367857, 23055945	Standard	NM_004055		Approved	nCL-3, HTRA3, ADNIV	uc001oxx.3	O15484		ENST00000278559.3:c.353C>T	11.37:g.76823690C>T	ENSP00000278559:p.Ala118Val					CAPN5_ENST00000531028.1_Intron|CAPN5_ENST00000529629.1_Missense_Mutation_p.A118V|CAPN5_ENST00000456580.2_Missense_Mutation_p.A158V	p.A118V	NM_004055.4	NP_004046.2	O15484	CAN5_HUMAN			4	542	+			118			Calpain catalytic.		O00263	Missense_Mutation	SNP	ENST00000278559.3	37	c.353C>T	CCDS8248.1	.	.	.	.	.	.	.	.	.	.	C	14.59	2.579839	0.46006	.	.	ENSG00000149260	ENST00000278559;ENST00000530987;ENST00000360841;ENST00000529629;ENST00000456580;ENST00000544318	D;D;D	0.89196	-2.48;-2.48;-2.48	4.16	2.25	0.28309	Peptidase C2, calpain, catalytic domain (3);	0.111825	0.64402	D	0.000012	D	0.83982	0.5372	M	0.67569	2.06	0.26271	N	0.978425	B;B;B;P	0.35174	0.256;0.062;0.195;0.488	B;B;B;B	0.29524	0.064;0.066;0.103;0.044	T	0.76427	-0.2963	10	0.66056	D	0.02	.	7.1109	0.25390	0.0:0.6905:0.1424:0.1671	.	156;158;158;118	Q59GM2;E7EV01;Q6ZRM8;O15484	.;.;.;CAN5_HUMAN	V	118;87;158;118;158;158	ENSP00000278559:A118V;ENSP00000432332:A118V;ENSP00000409996:A158V	ENSP00000278559:A118V	A	+	2	0	CAPN5	76501338	0.994000	0.37717	0.083000	0.20561	0.954000	0.61252	3.139000	0.50577	0.393000	0.25203	-0.264000	0.10439	GCG		0.612	CAPN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382564.2	NM_004055		8	52	0	0	0	1	0	8	52					T	76823690	C	T	76823690	3	4	332	1	0	0	0	0	1	0	0	0	2629	768	27	1	363	1	CAPN5	11	76823690	Missense_Mutation	SNP	C	TCGA-KK-A8I4-01A-11D-A364-08	11409892	76823690	58182826	13	16893											
FAM55D	54827	broad.mit.edu	37	chr11	114450926	114450926	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cattaggtatatgagttttcCtctcaggcattccttcattt	8	18	6	9	0	2	1	2	1	1	0	5	1	4	1	2	2	0	3	2	2	3	8			TCGA-KK-A8I4-01A-11D-A364-08	TCGA-KK-A8I4-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9dce7b79-9898-4034-bf5a-463e3eba9f39	7b5c45f2-39e1-4da3-af33-4b8f35de09c7	g.chr11:114450926C>T	ENST00000375478.3	-	5	1207	c.1027G>A	c.(1027-1029)Gga>Aga	p.G343R	NXPE4_ENST00000424261.2_Missense_Mutation_p.G59R	NM_001077639.1	NP_001071107.1	Q6UWF7	NXPE4_HUMAN	neurexophilin and PC-esterase domain family, member 4	343						extracellular vesicular exosome (GO:0070062)											ATGAGTTTTCCTCTCAGGCAT	0.443																																						ENST00000375478.3																			0											c.(1027-1029)Gga>Aga		neurexophilin and PC-esterase domain family, member 4							203	192	195					11																	114450926		1876	4124	6000	SO:0001583	missense	54827							g.chr11:114450926C>T	AK000134	CCDS41718.1, CCDS44737.1	11q23.3	2012-06-14	2012-06-11	2012-06-11	ENSG00000137634	ENSG00000137634			23117	protein-coding gene	gene with protein product			"chromosome 11 open reading frame 33", "family with sequence similarity 55, member D"	C11orf33, FAM55D		20056006	Standard	NM_017678		Approved	FLJ20127	uc001ppc.3	Q6UWF7	OTTHUMG00000168291	ENST00000375478.3:c.1027G>A	11.37:g.114450926C>T	ENSP00000364627:p.Gly343Arg					NXPE4_ENST00000424261.2_Missense_Mutation_p.G59R	p.G343R	NM_001077639.1	NP_001071107.1					5	1207	-								Q6QDB4|Q9NXP5	Missense_Mutation	SNP	ENST00000375478.3	37	c.1027G>A	CCDS41718.1	.	.	.	.	.	.	.	.	.	.	C	17.54	3.415986	0.62511	.	.	ENSG00000137634	ENST00000424261;ENST00000375478	T;T	0.21031	2.03;2.59	5.31	3.41	0.39046	.	0.098627	0.44285	D	0.000470	T	0.35068	0.0919	M	0.71036	2.16	0.33700	D	0.614397	P	0.51057	0.941	P	0.55011	0.766	T	0.49818	-0.8899	10	0.38643	T	0.18	.	10.3365	0.43852	0.0:0.8349:0.0:0.1651	.	343	Q6UWF7	FA55D_HUMAN	R	59;343	ENSP00000401503:G59R;ENSP00000364627:G343R	ENSP00000364627:G343R	G	-	1	0	FAM55D	113956136	0.345000	0.24835	0.577000	0.28562	0.240000	0.25518	0.680000	0.25306	0.699000	0.31761	0.655000	0.94253	GGA		0.443	NXPE4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000399179.1	NM_017678		17	83	0	0	0	1	0	17	83					T	114450926	C	T	114450926	3	4	332	1	0	0	0	0	1	0	0	0	5587	690	24	3	615	3	FAM55D	11	114450926	Missense_Mutation	SNP	C	TCGA-KK-A8I4-01A-11D-A364-08	37627236	114450926	20555590	14	16894											
PRDM10	56980	broad.mit.edu	37	chr11	129775615	129775615	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caaactgacccggaggaagcGtcatcatttgaatctcagat	13	9	9	10	2	3	3	3	2	1	1	4	5	3	5	1	2	2	0	1	2	3	1			TCGA-KK-A8I4-01A-11D-A364-08	TCGA-KK-A8I4-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9dce7b79-9898-4034-bf5a-463e3eba9f39	7b5c45f2-39e1-4da3-af33-4b8f35de09c7	g.chr11:129775615G>A	ENST00000360871.3	-	20	3416	c.3185C>T	c.(3184-3186)aCg>aTg	p.T1062M	PRDM10_ENST00000423662.2_Missense_Mutation_p.T967M|PRDM10_ENST00000528746.1_Missense_Mutation_p.T1023M|PRDM10_ENST00000304538.6_Missense_Mutation_p.T929M|PRDM10_ENST00000358825.5_Missense_Mutation_p.T1066M|PRDM10_ENST00000526082.1_Missense_Mutation_p.T980M	NM_199437.1	NP_955469.1	Q9NQV6	PRD10_HUMAN	PR domain containing 10	1053					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)			breast(2)|endometrium(6)|kidney(3)|large_intestine(14)|lung(15)|pancreas(2)|skin(1)|stomach(3)|urinary_tract(2)	48	all_hematologic(175;0.0537)	Breast(109;0.000496)|Lung NSC(97;0.000693)|all_lung(97;0.00151)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0174)|Lung(977;0.176)|LUSC - Lung squamous cell carcinoma(976;0.185)		CGGAGGAAGCGTCATCATTTG	0.433																																						ENST00000358825.5																			0				breast(2)|endometrium(6)|kidney(3)|large_intestine(14)|lung(15)|pancreas(2)|skin(1)|stomach(3)|urinary_tract(2)	48						c.(3196-3198)aCg>aTg		PR domain containing 10							120	104	110					11																	129775615		2201	4297	6498	SO:0001583	missense	56980				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr11:129775615G>A	AF275817	CCDS8484.1, CCDS8485.1, CCDS44771.1, CCDS44772.1	11q24.3	2013-01-08			ENSG00000170325	ENSG00000170325		"Zinc fingers, C2H2-type"	13995	protein-coding gene	gene with protein product	"PRDM zinc finger transcription factor", "PR-domain family member 7", "tristanin"					12175877	Standard	NM_020228		Approved	KIAA1231, PFM7, MGC131802	uc001qfm.3	Q9NQV6	OTTHUMG00000165762	ENST00000360871.3:c.3185C>T	11.37:g.129775615G>A	ENSP00000354118:p.Thr1062Met					PRDM10_ENST00000304538.6_Missense_Mutation_p.T929M|PRDM10_ENST00000360871.3_Missense_Mutation_p.T1062M|PRDM10_ENST00000526082.1_Missense_Mutation_p.T980M|PRDM10_ENST00000423662.2_Missense_Mutation_p.T967M|PRDM10_ENST00000528746.1_Missense_Mutation_p.T1023M	p.T1066M	NM_020228.2	NP_064613.2	Q9NQV6	PRD10_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.0174)|Lung(977;0.176)|LUSC - Lung squamous cell carcinoma(976;0.185)	21	3428	-	all_hematologic(175;0.0537)	Breast(109;0.000496)|Lung NSC(97;0.000693)|all_lung(97;0.00151)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)	1053					B7ZL71|G3XAE5|J3KP23|Q17R90|Q2KHR4|Q863Z2|Q9NXI4|Q9ULI9	Missense_Mutation	SNP	ENST00000360871.3	37	c.3197C>T	CCDS8484.1	.	.	.	.	.	.	.	.	.	.	G	25.2	4.617358	0.87359	.	.	ENSG00000170325	ENST00000358825;ENST00000304538;ENST00000360871;ENST00000423662;ENST00000528746;ENST00000526082;ENST00000533431	T;T;T;T;T;T;T	0.15487	2.59;2.42;2.59;2.6;2.66;2.58;2.68	5.99	5.99	0.97316	.	0.106801	0.64402	D	0.000007	T	0.25419	0.0618	N	0.24115	0.695	0.46437	D	0.99904	D;D;D;D;D;D	0.76494	0.998;0.997;0.995;0.999;0.999;0.997	P;P;P;P;P;P	0.54431	0.569;0.752;0.569;0.752;0.752;0.752	T	0.00802	-1.1560	10	0.87932	D	0	-19.5397	20.4777	0.99188	0.0:0.0:1.0:0.0	.	976;1062;1053;980;929;967	B7ZL72;G3XAE5;Q9NQV6;Q9NQV6-5;Q9NQV6-2;Q9NQV6-1	.;.;PRD10_HUMAN;.;.;.	M	1066;929;1062;967;1023;980;779	ENSP00000351686:T1066M;ENSP00000302669:T929M;ENSP00000354118:T1062M;ENSP00000398431:T967M;ENSP00000431262:T1023M;ENSP00000432237:T980M;ENSP00000435940:T779M	ENSP00000302669:T929M	T	-	2	0	PRDM10	129280825	1.000000	0.71417	0.975000	0.42487	0.830000	0.47004	9.400000	0.97290	2.840000	0.97914	0.655000	0.94253	ACG		0.433	PRDM10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386076.1	NM_199437		11	38	0	0	0	1	0	11	38					A	129775615	G	A	129775615	3	1	332	1	0	0	0	0	1	0	0	0	12451	1145	40	1	293	1	PRDM10	11	129775615	Missense_Mutation	SNP	G	TCGA-KK-A8I4-01A-11D-A364-08	15324689	129775615	5230901	15	16895											
AVPR1A	552	broad.mit.edu	37	chr12	63544328	63544328	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagaatgccacggccaggtCggccaggctgaggtgtcgga	9	5	17	10	3	0	2	0	1	0	1	2	4	0	3	3	6	1	1	3	6	2	0			TCGA-KK-A8I4-01A-11D-A364-08	TCGA-KK-A8I4-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9dce7b79-9898-4034-bf5a-463e3eba9f39	7b5c45f2-39e1-4da3-af33-4b8f35de09c7	g.chr12:63544328C>A	ENST00000299178.2	-	1	394	c.289G>T	c.(289-291)Gac>Tac	p.D97Y		NM_000706.4	NP_000697.1	P37288	V1AR_HUMAN	arginine vasopressin receptor 1A	97					activation of phospholipase C activity (GO:0007202)|blood circulation (GO:0008015)|calcium-mediated signaling (GO:0019722)|cellular response to water deprivation (GO:0042631)|G-protein coupled receptor signaling pathway (GO:0007186)|generation of precursor metabolites and energy (GO:0006091)|grooming behavior (GO:0007625)|maternal aggressive behavior (GO:0002125)|maternal behavior (GO:0042711)|myotube differentiation (GO:0014902)|negative regulation of female receptivity (GO:0007621)|negative regulation of transmission of nerve impulse (GO:0051970)|penile erection (GO:0043084)|positive regulation of cell growth (GO:0030307)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cellular pH reduction (GO:0032849)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of glutamate secretion (GO:0014049)|positive regulation of heart rate (GO:0010460)|positive regulation of prostaglandin biosynthetic process (GO:0031394)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of systemic arterial blood pressure (GO:0003084)|positive regulation of vasoconstriction (GO:0045907)|regulation of systemic arterial blood pressure by vasopressin (GO:0001992)|response to corticosterone (GO:0051412)|social behavior (GO:0035176)|sperm ejaculation (GO:0042713)|telencephalon development (GO:0021537)	cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	peptide hormone binding (GO:0017046)|protein kinase C binding (GO:0005080)|vasopressin receptor activity (GO:0005000)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(12)|prostate(2)|skin(1)	26			BRCA - Breast invasive adenocarcinoma(9;0.193)	GBM - Glioblastoma multiforme(28;0.0569)	Conivaptan(DB00872)|Desmopressin(DB00035)|Felypressin(DB00093)|Terlipressin(DB02638)|Tolvaptan(DB06212)|Vasopressin(DB00067)	ACGGCCAGGTCGGCCAGGCTG	0.667																																						ENST00000299178.2																			0				central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(12)|prostate(2)|skin(1)	26						c.(289-291)Gac>Tac		arginine vasopressin receptor 1A	Conivaptan(DB00872)|Desmopressin(DB00035)|Felypressin(DB00093)|Terlipressin(DB02638)|Vasopressin(DB00067)						22	27	25					12																	63544328		2203	4299	6502	SO:0001583	missense	0				activation of phospholipase C activity|elevation of cytosolic calcium ion concentration|generation of precursor metabolites and energy	endosome|integral to plasma membrane	protein kinase C binding|vasopressin receptor activity	g.chr12:63544328C>A	L25615	CCDS8965.1	12q14-q15	2012-08-08				ENSG00000166148		"GPCR / Class A : Vasopressin and oxytocin receptors"	895	protein-coding gene	gene with protein product		600821		AVPR1		8106369	Standard	NM_000706		Approved		uc001sro.2	P37288		ENST00000299178.2:c.289G>T	12.37:g.63544328C>A	ENSP00000299178:p.Asp97Tyr						p.D97Y	NM_000706.4	NP_000697.1	P37288	V1AR_HUMAN	BRCA - Breast invasive adenocarcinoma(9;0.193)	GBM - Glioblastoma multiforme(28;0.0569)	1	394	-			97						Missense_Mutation	SNP	ENST00000299178.2	37	c.289G>T	CCDS8965.1	.	.	.	.	.	.	.	.	.	.	C	23.9	4.467685	0.84533	.	.	ENSG00000166148	ENST00000299178	D	0.88896	-2.44	4.96	4.96	0.65561	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	D	0.96750	0.8939	H	0.98238	4.18	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98457	1.0594	9	.	.	.	-31.8265	16.7871	0.85576	0.0:1.0:0.0:0.0	.	97	P37288	V1AR_HUMAN	Y	97	ENSP00000299178:D97Y	.	D	-	1	0	AVPR1A	61830595	1.000000	0.71417	0.997000	0.53966	0.996000	0.88848	7.683000	0.84093	2.304000	0.77564	0.462000	0.41574	GAC		0.667	AVPR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406734.1			8	20	1	0	1.12685e-05	1	1.19728e-05	8	20					A	63544328	C	A	63544328	3	1	332	1	0	0	0	0	1	0	0	0	1231	884	31	5	975	5	AVPR1A	12	63544328	Missense_Mutation	SNP	C	TCGA-KK-A8I4-01A-11D-A364-08		63544328	70307567	16	16896											
RASSF9	9182	broad.mit.edu	37	chr12	86198925	86198925	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaacactttttacctcttttTctatttcagcagagagctta	11	17	4	9	0	3	1	1	0	2	1	3	2	3	1	1	0	4	2	1	0	4	8			TCGA-KK-A8I4-01A-11D-A364-08	TCGA-KK-A8I4-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9dce7b79-9898-4034-bf5a-463e3eba9f39	7b5c45f2-39e1-4da3-af33-4b8f35de09c7	g.chr12:86198925T>C	ENST00000361228.3	-	2	1231	c.863A>G	c.(862-864)gAa>gGa	p.E288G		NM_005447.3	NP_005438.2	O75901	RASF9_HUMAN	Ras association (RalGDS/AF-6) domain family (N-terminal) member 9	288					endosomal transport (GO:0016197)|protein targeting (GO:0006605)|signal transduction (GO:0007165)	cytosol (GO:0005829)|endosome (GO:0005768)|trans-Golgi network transport vesicle membrane (GO:0012510)	transporter activity (GO:0005215)			endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TACCTCTTTTTCTATTTCAGC	0.398																																						ENST00000361228.3																			0				endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						c.(862-864)gAa>gGa		Ras association (RalGDS/AF-6) domain family (N-terminal) member 9							128	124	125					12																	86198925		1847	4099	5946	SO:0001583	missense	9182				endosome transport|protein targeting|signal transduction	cytosol|endosome|trans-Golgi network transport vesicle membrane	protein binding|transporter activity	g.chr12:86198925T>C		CCDS44950.1	12q21.31	2008-02-22	2008-02-22	2008-02-22		ENSG00000198774			15739	protein-coding gene	gene with protein product		610383	"peptidylglycine alpha-amidating monooxygenase COOH-terminal interactor"	PAMCI		9837933, 18272789	Standard	NM_005447		Approved	P-CIP1	uc001taf.1	O75901	OTTHUMG00000169831	ENST00000361228.3:c.863A>G	12.37:g.86198925T>C	ENSP00000354884:p.Glu288Gly						p.E288G	NM_005447.3	NP_005438.2	O75901	RASF9_HUMAN			2	1231	-			288					B3KMQ4|Q8N5U8	Missense_Mutation	SNP	ENST00000361228.3	37	c.863A>G	CCDS44950.1	.	.	.	.	.	.	.	.	.	.	T	15.80	2.938858	0.52972	.	.	ENSG00000198774	ENST00000361228	T	0.50001	0.76	4.9	4.9	0.64082	.	0.127443	0.50627	U	0.000120	T	0.51126	0.1656	L	0.56769	1.78	0.42852	D	0.994087	P	0.50369	0.934	P	0.46237	0.508	T	0.58691	-0.7592	10	0.66056	D	0.02	-23.6088	14.7987	0.69898	0.0:0.0:0.0:1.0	.	288	O75901	RASF9_HUMAN	G	288	ENSP00000354884:E288G	ENSP00000354884:E288G	E	-	2	0	RASSF9	84723056	0.927000	0.31430	0.996000	0.52242	0.988000	0.76386	3.978000	0.56881	1.958000	0.56883	0.528000	0.53228	GAA		0.398	RASSF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406109.1			21	97	0	0	0	1	0	21	97					C	86198925	T	C	86198925	3	2	332	1	0	0	0	0	1	0	0	0	13093	1783	62	4	448	4	RASSF9	12	86198925	Missense_Mutation	SNP	T	TCGA-KK-A8I4-01A-11D-A364-08	22654597	86198925	47652970	17	16897											
STAB2	55576	broad.mit.edu	37	chr12	104056648	104056648	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	agattctggcaaatgatgtgGcaatggaagaaattgagatc	15	10	12	4	0	1	4	0	2	1	3	2	6	1	5	0	3	0	2	0	3	4	2			TCGA-KK-A8I4-01A-11D-A364-08	TCGA-KK-A8I4-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9dce7b79-9898-4034-bf5a-463e3eba9f39	7b5c45f2-39e1-4da3-af33-4b8f35de09c7	g.chr12:104056648G>A	ENST00000388887.2	+	18	2098	c.1894G>A	c.(1894-1896)Gca>Aca	p.A632T		NM_017564.9	NP_060034.9			stabilin 2											NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						AAATGATGTGGCAATGGAAGA	0.458																																						ENST00000388887.2																			0				NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						c.(1894-1896)Gca>Aca		stabilin 2							126	119	121					12																	104056648		2203	4300	6503	SO:0001583	missense	55576				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity	g.chr12:104056648G>A	AF160476	CCDS31888.1	12q23.3	2007-01-29				ENSG00000136011			18629	protein-coding gene	gene with protein product	"hyaluronic acid receptor for endocytosis"	608561				11829752, 12077138	Standard	XR_429107		Approved	DKFZP434E0321, FELL, STAB-2, HARE, FEEL-2	uc001tjw.3	Q8WWQ8	OTTHUMG00000170056	ENST00000388887.2:c.1894G>A	12.37:g.104056648G>A	ENSP00000373539:p.Ala632Thr						p.A632T	NM_017564.9	NP_060034.9	Q8WWQ8	STAB2_HUMAN			18	2098	+			632			FAS1 2.			Missense_Mutation	SNP	ENST00000388887.2	37	c.1894G>A	CCDS31888.1	.	.	.	.	.	.	.	.	.	.	G	18.13	3.555403	0.65425	.	.	ENSG00000136011	ENST00000388887	D	0.90069	-2.61	5.31	5.31	0.75309	FAS1 domain (5);	0.126827	0.51477	D	0.000081	D	0.85877	0.5799	L	0.33668	1.02	0.34013	D	0.651687	D	0.57571	0.98	P	0.51550	0.673	D	0.87075	0.2162	10	0.29301	T	0.29	.	9.4851	0.38924	0.0788:0.1461:0.7751:0.0	.	632	Q8WWQ8	STAB2_HUMAN	T	632	ENSP00000373539:A632T	ENSP00000373539:A632T	A	+	1	0	STAB2	102580778	0.992000	0.36948	0.631000	0.29282	0.543000	0.35085	1.417000	0.34770	2.478000	0.83669	0.655000	0.94253	GCA		0.458	STAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407089.1			10	74	0	0	0	1	0	10	74					A	104056648	G	A	104056648	3	1	332	1	0	0	0	0	1	0	0	0	15237	1203	42	3	1964	3	STAB2	12	104056648	Missense_Mutation	SNP	G	TCGA-KK-A8I4-01A-11D-A364-08	17857723	104056648	29795247	18	16898											
COL4A2	1284	broad.mit.edu	37	chr13	110960470	110960470	+	Splice_Site	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctcgcccagagcgtcttggcGgtaagtcctggctcccgcgc	4	8	13	16	5	1	1	0	0	1	1	4	1	3	1	3	3	1	2	3	3	1	2			TCGA-KK-A8I4-01A-11D-A364-08	TCGA-KK-A8I4-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9dce7b79-9898-4034-bf5a-463e3eba9f39	7b5c45f2-39e1-4da3-af33-4b8f35de09c7	g.chr13:110960470G>C	ENST00000360467.5	+	3	405	c.99G>C	c.(97-99)gcG>gcC	p.A33A	COL4A1_ENST00000375820.4_5'Flank|COL4A1_ENST00000543140.1_5'Flank	NM_001846.2	NP_001837.2	P08572	CO4A2_HUMAN	collagen, type IV, alpha 2	33					angiogenesis (GO:0001525)|axon guidance (GO:0007411)|cellular response to transforming growth factor beta stimulus (GO:0071560)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of angiogenesis (GO:0016525)|transcription, DNA-templated (GO:0006351)	collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)	extracellular matrix structural constituent (GO:0005201)			NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	80	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)			GCGTCTTGGCGGTAAGTCCTG	0.662																																						ENST00000360467.5																			0				NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						c.e3+1		collagen, type IV, alpha 2							57	65	63					13																	110960470		2060	4170	6230	SO:0001630	splice_region_variant	1284				angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis	collagen type IV	extracellular matrix structural constituent|protein binding	g.chr13:110960470G>C	AK025912	CCDS41907.1	13q34	2013-09-05			ENSG00000134871	ENSG00000134871		"Collagens"	2203	protein-coding gene	gene with protein product	"canstatin", "collagen type IV alpha 2"	120090				2439508, 3025878	Standard	NM_001846		Approved	FLJ22259, DKFZp686I14213	uc001vqx.3	P08572	OTTHUMG00000017344	ENST00000360467.5:c.99+1G>C	13.37:g.110960470G>C							p.A33_splice	NM_001846.2	NP_001837.2	P08572	CO4A2_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)		3	405	+	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	33					Q14052|Q548C3|Q5VZA9|Q66K23	Splice_Site	SNP	ENST00000360467.5	37	c.99_splice	CCDS41907.1																																																																																				0.662	COL4A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045761.2	NM_001846	Silent	12	37	0	0	0	1	0	12	37					C	110960470	G	C	110960470	5	2	332	1	0	0	0	0	0	0	1	0	3690	1130	39	5	105	5	COL4A2	13	110960470	Splice_Site	SNP	G	TCGA-KK-A8I4-01A-11D-A364-08		110960470	4209408	19	16899											
BMP4	652	broad.mit.edu	37	chr14	54416914	54416914	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaccagggtctgcacaatggCatggttggttgagttgaggt	8	11	16	6	0	1	2	0	2	1	0	1	3	1	2	1	5	1	5	1	5	1	3			TCGA-KK-A8I4-01A-11D-A364-08	TCGA-KK-A8I4-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9dce7b79-9898-4034-bf5a-463e3eba9f39	7b5c45f2-39e1-4da3-af33-4b8f35de09c7	g.chr14:54416914C>T	ENST00000245451.4	-	4	1456	c.1063G>A	c.(1063-1065)Gcc>Acc	p.A355T	BMP4_ENST00000558984.1_Missense_Mutation_p.A355T|BMP4_ENST00000417573.1_Missense_Mutation_p.A355T|BMP4_ENST00000559087.1_Missense_Mutation_p.A355T|MIR5580_ENST00000580850.1_RNA	NM_001202.3	NP_001193.2	P12644	BMP4_HUMAN	bone morphogenetic protein 4	355					activation of MAPKK activity (GO:0000186)|anterior/posterior axis specification (GO:0009948)|blood vessel endothelial cell proliferation involved in sprouting angiogenesis (GO:0002043)|BMP signaling pathway (GO:0030509)|BMP signaling pathway involved in heart induction (GO:0003130)|BMP signaling pathway involved in nephric duct formation (GO:0071893)|BMP signaling pathway involved in renal system segmentation (GO:0061151)|BMP signaling pathway involved in ureter morphogenesis (GO:0061149)|branching involved in prostate gland morphogenesis (GO:0060442)|branching involved in ureteric bud morphogenesis (GO:0001658)|branching morphogenesis of an epithelial tube (GO:0048754)|bronchus development (GO:0060433)|bud dilation involved in lung branching (GO:0060503)|bud elongation involved in lung branching (GO:0060449)|cardiac septum development (GO:0003279)|cellular response to growth factor stimulus (GO:0071363)|chondrocyte differentiation (GO:0002062)|cloacal septation (GO:0060197)|common-partner SMAD protein phosphorylation (GO:0007182)|cranial suture morphogenesis (GO:0060363)|deltoid tuberosity development (GO:0035993)|dorsal/ventral neural tube patterning (GO:0021904)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic digit morphogenesis (GO:0042733)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic skeletal joint morphogenesis (GO:0060272)|endocardial cushion development (GO:0003197)|endochondral ossification (GO:0001958)|epithelial cell proliferation involved in lung morphogenesis (GO:0060502)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|epithelial-mesenchymal cell signaling (GO:0060684)|erythrocyte differentiation (GO:0030218)|extracellular matrix organization (GO:0030198)|germ cell development (GO:0007281)|glomerular capillary formation (GO:0072104)|glomerular visceral epithelial cell development (GO:0072015)|hematopoietic progenitor cell differentiation (GO:0002244)|inner ear receptor cell differentiation (GO:0060113)|intermediate mesodermal cell differentiation (GO:0048392)|kidney development (GO:0001822)|lens induction in camera-type eye (GO:0060235)|lung alveolus development (GO:0048286)|lung morphogenesis (GO:0060425)|lymphoid progenitor cell differentiation (GO:0002320)|macrophage differentiation (GO:0030225)|mammary gland formation (GO:0060592)|mesenchymal cell differentiation involved in kidney development (GO:0072161)|mesenchymal cell proliferation involved in ureter development (GO:0072198)|mesenchymal cell proliferation involved in ureteric bud development (GO:0072138)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|mesodermal cell fate determination (GO:0007500)|mesonephros development (GO:0001823)|metanephric collecting duct development (GO:0072205)|monocyte differentiation (GO:0030224)|negative regulation of apoptotic process (GO:0043066)|negative regulation of branch elongation involved in ureteric bud branching by BMP signaling pathway (GO:0072097)|negative regulation of branching involved in ureteric bud morphogenesis (GO:0090191)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell death (GO:0060548)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell proliferation involved in heart morphogenesis (GO:2000137)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of glomerular mesangial cell proliferation (GO:0072125)|negative regulation of glomerulus development (GO:0090194)|negative regulation of immature T cell proliferation in thymus (GO:0033088)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of mesenchymal cell proliferation involved in ureter development (GO:0072200)|negative regulation of metanephric comma-shaped body morphogenesis (GO:2000007)|negative regulation of metanephric S-shaped body morphogenesis (GO:2000005)|negative regulation of mitosis (GO:0045839)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of phosphorylation (GO:0042326)|negative regulation of prostatic bud formation (GO:0060686)|negative regulation of striated muscle tissue development (GO:0045843)|negative regulation of T cell differentiation in thymus (GO:0033085)|negative regulation of thymocyte apoptotic process (GO:0070244)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|neuron fate commitment (GO:0048663)|odontogenesis (GO:0042476)|odontogenesis of dentin-containing tooth (GO:0042475)|osteoblast differentiation (GO:0001649)|pituitary gland development (GO:0021983)|positive chemotaxis (GO:0050918)|positive regulation of apoptotic process (GO:0043065)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of bone mineralization (GO:0030501)|positive regulation of branching involved in lung morphogenesis (GO:0061047)|positive regulation of cardiac muscle fiber development (GO:0055020)|positive regulation of cartilage development (GO:0061036)|positive regulation of cell death (GO:0010942)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of DNA-dependent DNA replication (GO:2000105)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of epidermal cell differentiation (GO:0045606)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of kidney development (GO:0090184)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of ossification (GO:0045778)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|post-embryonic development (GO:0009791)|protein localization to nucleus (GO:0034504)|pulmonary artery endothelial tube morphogenesis (GO:0061155)|regulation of branching involved in prostate gland morphogenesis (GO:0060687)|regulation of cell fate commitment (GO:0010453)|regulation of odontogenesis of dentin-containing tooth (GO:0042487)|regulation of pathway-restricted SMAD protein phosphorylation (GO:0060393)|regulation of smooth muscle cell differentiation (GO:0051150)|renal system development (GO:0072001)|renal system process (GO:0003014)|secondary heart field specification (GO:0003139)|SMAD protein signal transduction (GO:0060395)|smooth muscle tissue development (GO:0048745)|smoothened signaling pathway (GO:0007224)|specification of organ position (GO:0010159)|specification of ureteric bud anterior/posterior symmetry by BMP signaling pathway (GO:0072101)|steroid hormone mediated signaling pathway (GO:0043401)|telencephalon development (GO:0021537)|telencephalon regionalization (GO:0021978)|tendon cell differentiation (GO:0035990)|trachea development (GO:0060438)|trachea formation (GO:0060440)|type B pancreatic cell development (GO:0003323)|ureter epithelial cell differentiation (GO:0072192)|ureter smooth muscle cell differentiation (GO:0072193)|ureteric bud development (GO:0001657)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	BMP receptor binding (GO:0070700)|chemoattractant activity (GO:0042056)|cytokine activity (GO:0005125)|heparin binding (GO:0008201)			breast(1)|endometrium(3)|large_intestine(2)|lung(9)|prostate(3)|urinary_tract(1)	19						TGCACAATGGCATGGTTGGTT	0.547																																						ENST00000245451.4																			0				breast(1)|endometrium(3)|large_intestine(2)|lung(9)|prostate(3)|urinary_tract(1)	19						c.(1063-1065)Gcc>Acc		bone morphogenetic protein 4							166	141	149					14																	54416914		2203	4300	6503	SO:0001583	missense	652				activation of MAPKK activity|blood vessel endothelial cell proliferation involved in sprouting angiogenesis|BMP signaling pathway involved in heart induction|BMP signaling pathway involved in nephric duct formation|branching involved in ureteric bud morphogenesis|bronchus development|bud dilation involved in lung branching|cardiac septum development|cartilage development|endocardial cushion development|epithelial cell proliferation involved in lung morphogenesis|intermediate mesodermal cell differentiation|lung alveolus development|lymphoid progenitor cell differentiation|mesenchymal to epithelial transition involved in metanephros morphogenesis|mesonephros development|negative regulation of branch elongation involved in ureteric bud branching by BMP signaling pathway|negative regulation of branching involved in ureteric bud morphogenesis|negative regulation of cell proliferation involved in heart morphogenesis|negative regulation of glomerular mesangial cell proliferation|negative regulation of glomerulus development|negative regulation of immature T cell proliferation in thymus|negative regulation of MAP kinase activity|negative regulation of metanephric comma-shaped body morphogenesis|negative regulation of metanephric S-shaped body morphogenesis|negative regulation of mitosis|negative regulation of myoblast differentiation|negative regulation of phosphorylation|negative regulation of striated muscle tissue development|negative regulation of thymocyte apoptosis|negative regulation of transcription from RNA polymerase II promoter|osteoblast differentiation|positive regulation of apoptosis|positive regulation of bone mineralization|positive regulation of cardiac muscle fiber development|positive regulation of cartilage development|positive regulation of collagen biosynthetic process|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of kidney development|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of smooth muscle cell proliferation|positive regulation of transcription from RNA polymerase II promoter|post-embryonic development|protein localization to nucleus|pulmonary artery endothelial tube morphogenesis|secondary heart field specification|SMAD protein signal transduction|specification of ureteric bud anterior/posterior symmetry by BMP signaling pathway|steroid hormone mediated signaling pathway	extracellular space|proteinaceous extracellular matrix	BMP receptor binding|chemoattractant activity|cytokine activity|growth factor activity	g.chr14:54416914C>T	AF035427	CCDS9715.1	14q22-q23	2014-01-30			ENSG00000125378	ENSG00000125378		"Bone morphogenetic proteins", "Endogenous ligands"	1071	protein-coding gene	gene with protein product		112262		BMP2B		7558046, 7579580	Standard	NM_001202		Approved		uc010aoh.3	P12644	OTTHUMG00000140303	ENST00000245451.4:c.1063G>A	14.37:g.54416914C>T	ENSP00000245451:p.Ala355Thr					BMP4_ENST00000559087.1_Missense_Mutation_p.A355T|BMP4_ENST00000558984.1_Missense_Mutation_p.A355T|BMP4_ENST00000417573.1_Missense_Mutation_p.A355T	p.A355T	NM_001202.3	NP_001193.2	P12644	BMP4_HUMAN			4	1456	-			355					Q9UM80	Missense_Mutation	SNP	ENST00000245451.4	37	c.1063G>A	CCDS9715.1	.	.	.	.	.	.	.	.	.	.	C	25.2	4.613433	0.87359	.	.	ENSG00000125378	ENST00000245451;ENST00000417573	D;D	0.86497	-2.13;-2.13	5.53	5.53	0.82687	Transforming growth factor-beta, C-terminal (3);	0.048215	0.85682	D	0.000000	D	0.94268	0.8159	M	0.88979	2.995	0.80722	D	1	D	0.71674	0.998	D	0.64410	0.925	D	0.94723	0.7902	10	0.87932	D	0	.	18.6325	0.91364	0.0:1.0:0.0:0.0	.	355	P12644	BMP4_HUMAN	T	355	ENSP00000245451:A355T;ENSP00000394165:A355T	ENSP00000245451:A355T	A	-	1	0	BMP4	53486664	1.000000	0.71417	0.982000	0.44146	0.997000	0.91878	7.644000	0.83416	2.882000	0.98803	0.655000	0.94253	GCC		0.547	BMP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276894.2	NM_001202		37	54	0	0	0	1	0	37	54					T	54416914	C	T	54416914	3	4	332	1	0	0	0	0	1	0	0	0	1462	710	25	3	167	3	BMP4	14	54416914	Missense_Mutation	SNP	C	TCGA-KK-A8I4-01A-11D-A364-08		54416914	52932626	20	16900											
MFGE8	4240	broad.mit.edu	37	chr15	89442668	89442668	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cgcagggcgatgcggttgtgCcaggctacaggcaggatgcg	7	6	18	10	4	0	0	0	0	0	0	0	2	0	1	1	5	4	4	1	5	1	2			TCGA-KK-A8I4-01A-11D-A364-08	TCGA-KK-A8I4-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9dce7b79-9898-4034-bf5a-463e3eba9f39	7b5c45f2-39e1-4da3-af33-4b8f35de09c7	g.chr15:89442668C>T	ENST00000566497.1	-	8	1183	c.1122G>A	c.(1120-1122)tgG>tgA	p.W374*	MFGE8_ENST00000542878.1_Nonsense_Mutation_p.W330*|MFGE8_ENST00000268151.7_Nonsense_Mutation_p.W322*|MFGE8_ENST00000268150.8_Nonsense_Mutation_p.W374*|MFGE8_ENST00000539437.1_Nonsense_Mutation_p.W366*			Q08431	MFGM_HUMAN	milk fat globule-EGF factor 8 protein	374	F5/8 type C 2. {ECO:0000255|PROSITE- ProRule:PRU00081}.				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|phagocytosis, engulfment (GO:0006911)|phagocytosis, recognition (GO:0006910)|positive regulation of apoptotic cell clearance (GO:2000427)|single fertilization (GO:0007338)|viral process (GO:0016032)	external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of plasma membrane (GO:0019897)|membrane (GO:0016020)|vesicle (GO:0031982)	phosphatidylethanolamine binding (GO:0008429)|phosphatidylserine binding (GO:0001786)			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	22	Lung NSC(78;0.0392)|all_lung(78;0.077)					TGCGGTTGTGCCAGGCTACAG	0.607																																						ENST00000539437.1																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	22						c.(1096-1098)tgG>tgA		milk fat globule-EGF factor 8 protein							155	136	142					15																	89442668		2200	4299	6499	SO:0001587	stop_gained	4240				angiogenesis|cell adhesion|interspecies interaction between organisms|single fertilization			g.chr15:89442668C>T	U58516	CCDS10347.1, CCDS45345.1	15q25	2009-03-25			ENSG00000140545	ENSG00000140545			7036	protein-coding gene	gene with protein product	"sperm surface protein hP47"	602281	"sperm associated antigen 10"	SPAG10		9027496, 19204935	Standard	NM_005928		Approved	SED1, EDIL1, BA46, OAcGD3S, HsT19888, MFG-E8, hP47	uc002bng.4	Q08431	OTTHUMG00000148682	ENST00000566497.1:c.1122G>A	15.37:g.89442668C>T	ENSP00000456281:p.Trp374*					MFGE8_ENST00000268151.7_Nonsense_Mutation_p.W322*|MFGE8_ENST00000268150.8_Nonsense_Mutation_p.W374*|MFGE8_ENST00000542878.1_Nonsense_Mutation_p.W330*|MFGE8_ENST00000566497.1_Nonsense_Mutation_p.W374*	p.W366*			Q08431	MFGM_HUMAN			9	1234	-	Lung NSC(78;0.0392)|all_lung(78;0.077)		374			F5/8 type C 2.		B2R6M7|Q53FU9|Q7Z3D2|Q9BTL9	Nonsense_Mutation	SNP	ENST00000566497.1	37	c.1098G>A	CCDS10347.1	.	.	.	.	.	.	.	.	.	.	C	32	5.122262	0.94429	.	.	ENSG00000140545	ENST00000268150;ENST00000268151;ENST00000539437;ENST00000542878	.	.	.	4.88	4.88	0.63580	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-21.4245	16.6472	0.85179	0.0:1.0:0.0:0.0	.	.	.	.	X	374;322;366;330	.	ENSP00000268150:W374X	W	-	3	0	MFGE8	87243672	1.000000	0.71417	1.000000	0.80357	0.700000	0.40528	7.661000	0.83786	2.272000	0.75746	0.555000	0.69702	TGG		0.607	MFGE8-015	NOVEL	alternative_3_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000432804.1	NM_005928		4	99	0	0	0	1	0	4	99					T	89442668	C	T	89442668	4	4	332	1	0	0	0	0	0	1	0	0	9520	740	26	3	45	3	MFGE8	15	89442668	Nonsense_Mutation	SNP	C	TCGA-KK-A8I4-01A-11D-A364-08		89442668	13088724	21	16901											
KRT27	342574	broad.mit.edu	37	chr17	38936677	38936677	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accattgatgtccgcctccaCgctctggtgaagcgctagct	7	10	10	14	3	1	2	0	2	1	0	3	2	3	2	4	1	2	3	4	1	2	2	rs116334559		TCGA-KK-A8I4-01A-11D-A364-08	TCGA-KK-A8I4-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9dce7b79-9898-4034-bf5a-463e3eba9f39	7b5c45f2-39e1-4da3-af33-4b8f35de09c7	g.chr17:38936677C>T	ENST00000301656.3	-	3	599	c.559G>A	c.(559-561)Gtg>Atg	p.V187M	KRT27_ENST00000540723.1_5'Flank	NM_181537.3	NP_853515.2			keratin 27									p.V187M(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(3)|skin(1)|stomach(1)	21		Breast(137;0.000812)				TCCGCCTCCACGCTCTGGTGA	0.468													C|||	1	0.000199681	0	0	5008	,	,		15935	0.001		0	False		,,,				2504	0					ENST00000301656.3																			1	Substitution - Missense(1)	p.V187M(1)	lung(1)	NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(3)|skin(1)|stomach(1)	21						c.(559-561)Gtg>Atg		keratin 27							69	62	64					17																	38936677		2203	4300	6503	SO:0001583	missense	342574					cytoplasm|intermediate filament	structural molecule activity	g.chr17:38936677C>T	AJ564206	CCDS11375.1	17q21.2	2013-01-16	2006-07-17	2006-07-17	ENSG00000171446	ENSG00000171446		"-", "Intermediate filaments type I, keratins (acidic)"	30841	protein-coding gene	gene with protein product			"keratin 25C"	KRT25C		16831889	Standard	NM_181537		Approved		uc002hvg.3	Q7Z3Y8	OTTHUMG00000133371	ENST00000301656.3:c.559G>A	17.37:g.38936677C>T	ENSP00000301656:p.Val187Met						p.V187M	NM_181537.3	NP_853515.2	Q7Z3Y8	K1C27_HUMAN			3	599	-		Breast(137;0.000812)	187			Coil 1B.|Rod.			Missense_Mutation	SNP	ENST00000301656.3	37	c.559G>A	CCDS11375.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	23.7	4.445608	0.84101	.	.	ENSG00000171446	ENST00000301656	D	0.82984	-1.67	5.5	5.5	0.81552	Filament (1);	0.000000	0.56097	D	0.000028	D	0.89787	0.6816	M	0.85945	2.785	0.58432	D	0.999999	D	0.56746	0.977	P	0.53006	0.715	D	0.91278	0.5049	10	0.87932	D	0	.	18.7454	0.91791	0.0:1.0:0.0:0.0	.	187	Q7Z3Y8	K1C27_HUMAN	M	187	ENSP00000301656:V187M	ENSP00000301656:V187M	V	-	1	0	KRT27	36190203	1.000000	0.71417	0.998000	0.56505	0.581000	0.36288	6.052000	0.71080	2.743000	0.94032	0.655000	0.94253	GTG		0.468	KRT27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257216.1	NM_181537		7	20	0	0	0	1	0	7	20					T	38936677	C	T	38936677	3	4	332	1	0	0	0	0	1	0	0	0	8464	536	19	1	844	1	KRT27	17	38936677	Missense_Mutation	SNP	C	TCGA-KK-A8I4-01A-11D-A364-08		38936677	42258533	22	16902											
FBF1	85302	broad.mit.edu	37	chr17	73914270	73914270	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gggaggtggcactggtggccGcatcgacctctcggtccttc	4	9	15	13	3	1	0	0	0	1	0	5	2	2	1	3	6	0	2	3	6	0	1	rs545829858		TCGA-KK-A8I4-01A-11D-A364-08	TCGA-KK-A8I4-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9dce7b79-9898-4034-bf5a-463e3eba9f39	7b5c45f2-39e1-4da3-af33-4b8f35de09c7	g.chr17:73914270G>A	ENST00000586717.1	-	20	2450	c.2177C>T	c.(2176-2178)gCg>gTg	p.A726V	FBF1_ENST00000389570.4_Missense_Mutation_p.A726V|FBF1_ENST00000319129.5_Missense_Mutation_p.A725V			Q8TES7	FBF1_HUMAN	Fas (TNFRSF6) binding factor 1	726					apical junction assembly (GO:0043297)|cilium assembly (GO:0042384)|establishment of epithelial cell polarity (GO:0090162)	cell junction (GO:0030054)|centriole (GO:0005814)|ciliary transition fiber (GO:0097539)|spindle pole (GO:0000922)				large_intestine(2)|ovary(1)|upper_aerodigestive_tract(1)	4						ACTGGTGGCCGCATCGACCTC	0.682																																						ENST00000586717.1																			0				large_intestine(2)|ovary(1)|upper_aerodigestive_tract(1)	4						c.(2176-2178)gCg>gTg		Fas (TNFRSF6) binding factor 1							29	38	35					17																	73914270		2100	4229	6329	SO:0001583	missense	85302							g.chr17:73914270G>A	AK074045	CCDS45779.1	17q25.3	2011-04-21			ENSG00000188878	ENSG00000188878			24674	protein-coding gene	gene with protein product	"albatross"					11347906	Standard	NM_001080542		Approved	FLJ00103, FBF-1, KIAA1863, ALB	uc002jqc.3	Q8TES7		ENST00000586717.1:c.2177C>T	17.37:g.73914270G>A	ENSP00000465132:p.Ala726Val					FBF1_ENST00000389570.4_Missense_Mutation_p.A726V|FBF1_ENST00000319129.5_Missense_Mutation_p.A725V	p.A726V			A6NLR5	A6NLR5_HUMAN			20	2450	-			725					B5MEM5|Q96IF6|Q96JG4|Q96MA8	Missense_Mutation	SNP	ENST00000586717.1	37	c.2177C>T		.	.	.	.	.	.	.	.	.	.	G	23.9	4.471812	0.84533	.	.	ENSG00000188878	ENST00000337792;ENST00000389570;ENST00000319129;ENST00000427433	T;T	0.23348	1.92;1.91	5.19	5.19	0.71726	.	.	.	.	.	T	0.49490	0.1560	L	0.60455	1.87	0.54753	D	0.999981	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.97110	0.914;1.0;0.998	T	0.48198	-0.9056	9	0.59425	D	0.04	-17.6854	18.304	0.90174	0.0:0.0:1.0:0.0	.	740;726;725	Q8TES7-6;Q8TES7;A6NLR5	.;FBF1_HUMAN;.	V	726;726;725;739	ENSP00000374221:A726V;ENSP00000324292:A725V	ENSP00000324292:A725V	A	-	2	0	FBF1	71425865	1.000000	0.71417	0.840000	0.33206	0.746000	0.42486	6.133000	0.71682	2.415000	0.81967	0.563000	0.77884	GCG		0.682	FBF1-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000448945.2	NM_001080542		3	26	0	0	0	1	0	3	26					A	73914270	G	A	73914270	3	1	332	1	0	0	0	0	1	0	0	0	5695	1087	38	1	1267	1	FBF1	17	73914270	Missense_Mutation	SNP	G	TCGA-KK-A8I4-01A-11D-A364-08	34977593	73914270	7280940	23	16903											
MBP	4155	broad.mit.edu	37	chr18	74702002	74702002	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgtagtgagcagttcttgcCgggtggtgtgagtcctgaaa	7	11	15	8	2	1	3	0	3	1	0	2	3	2	3	3	2	2	3	3	2	2	3	rs371962636		TCGA-KK-A8I4-01A-11D-A364-08	TCGA-KK-A8I4-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9dce7b79-9898-4034-bf5a-463e3eba9f39	7b5c45f2-39e1-4da3-af33-4b8f35de09c7	g.chr18:74702002C>T	ENST00000397869.3	-	2	238	c.192G>A	c.(190-192)ccG>ccA	p.P64P	MBP_ENST00000359645.3_Silent_p.P90P|MBP_ENST00000397875.3_Silent_p.P64P|MBP_ENST00000527041.1_Silent_p.P64P|MBP_ENST00000579129.1_Silent_p.P197P|MBP_ENST00000382582.3_Silent_p.P90P|MBP_ENST00000580402.1_Silent_p.P197P|MBP_ENST00000397866.4_Silent_p.P64P|MBP_ENST00000354542.4_Intron|MBP_ENST00000528160.1_Intron|MBP_ENST00000526111.1_Silent_p.P42P|MBP_ENST00000397865.5_Silent_p.P64P|MBP_ENST00000355994.2_Silent_p.P197P|MBP_ENST00000578193.1_Silent_p.P64P			P13727	PRG2_HUMAN	myelin basic protein	0					defense response to bacterium (GO:0042742)|defense response to nematode (GO:0002215)|immune response (GO:0006955)|negative regulation of interleukin-10 production (GO:0032693)|positive regulation of interleukin-4 production (GO:0032753)	cytoplasmic vesicle (GO:0031410)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	carbohydrate binding (GO:0030246)|heparin binding (GO:0008201)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	19		Prostate(75;0.0865)|Esophageal squamous(42;0.129)|Melanoma(33;0.211)		OV - Ovarian serous cystadenocarcinoma(15;1.79e-06)|BRCA - Breast invasive adenocarcinoma(31;0.113)|READ - Rectum adenocarcinoma(1;0.188)	Sargramostim(DB00020)	CAGTTCTTGCCGGGTGGTGTG	0.572																																					NSCLC(17;72 1131 19392)	ENST00000355994.2																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	19						c.(589-591)ccG>ccA		myelin basic protein		C	,,,,	1,4405	2.1+/-5.4	0,1,2202	117	105	109		270,192,192,591,270	-6.1	0.2	18		109	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	MBP	NM_001025081.1,NM_001025090.1,NM_001025092.1,NM_001025101.1,NM_002385.2	,,,,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,,,,	90/198,64/172,64/161,197/305,90/187	74702002	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	4155				central nervous system development|immune response|synaptic transmission	plasma membrane	structural constituent of myelin sheath	g.chr18:74702002C>T		CCDS12011.1, CCDS32847.1, CCDS42448.1, CCDS42449.1, CCDS42450.1	18q23	2008-08-01			ENSG00000197971	ENSG00000197971			6925	protein-coding gene	gene with protein product		159430				2425357	Standard	XM_005266699		Approved		uc010xfd.2	P02686	OTTHUMG00000132874	ENST00000397869.3:c.192G>A	18.37:g.74702002C>T						MBP_ENST00000397865.5_Silent_p.P64P|MBP_ENST00000397866.4_Silent_p.P64P|MBP_ENST00000397869.3_Silent_p.P64P|MBP_ENST00000580402.1_Silent_p.P197P|MBP_ENST00000526111.1_Silent_p.P42P|MBP_ENST00000397875.3_Silent_p.P64P|MBP_ENST00000528160.1_Intron|MBP_ENST00000579129.1_Silent_p.P197P|MBP_ENST00000578193.1_Silent_p.P64P|MBP_ENST00000527041.1_Silent_p.P64P|MBP_ENST00000354542.4_Intron|MBP_ENST00000382582.3_Silent_p.P90P|MBP_ENST00000359645.3_Silent_p.P90P	p.P197P	NM_001025101.1	NP_001020272.1	P02686	MBP_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;1.79e-06)|BRCA - Breast invasive adenocarcinoma(31;0.113)|READ - Rectum adenocarcinoma(1;0.188)	5	854	-		Prostate(75;0.0865)|Esophageal squamous(42;0.129)|Melanoma(33;0.211)	197			Induces experimental autoimmune encephalomyelitis (EAE) 1.		A6XMW0|B2R5I1|P81448|Q14227|Q6ICT2	Silent	SNP	ENST00000397869.3	37	c.591G>A																																																																																					0.572	MBP-024	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000267964.1	NM_001025081		4	26	0	0	0	1	0	4	26					T	74702002	C	T	74702002	2	4	332	1	0	0	0	0	0	0	0	1	9359	639	23	2		2	MBP	18	74702002	Silent	SNP	C	TCGA-KK-A8I4-01A-11D-A364-08		74702002	3375246	24	16904											
OR7A5	26659	broad.mit.edu	37	chr19	14938184	14938184	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atgtctttattcctcagactAtagataaaggggttcagcat	12	14	8	7	0	3	2	2	0	1	2	4	2	4	2	1	2	1	2	1	2	5	7	rs200531878		TCGA-KK-A8I4-01A-11D-A364-08	TCGA-KK-A8I4-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9dce7b79-9898-4034-bf5a-463e3eba9f39	7b5c45f2-39e1-4da3-af33-4b8f35de09c7	g.chr19:14938184A>G	ENST00000322301.3	-	2	957	c.870T>C	c.(868-870)taT>taC	p.Y290Y	OR7A5_ENST00000601611.1_Intron|OR7A5_ENST00000594432.1_Silent_p.Y290Y			Q15622	OR7A5_HUMAN	olfactory receptor, family 7, subfamily A, member 5	290					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.Y290Y(2)		breast(1)|central_nervous_system(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	26						TCCTCAGACTATAGATAAAGG	0.478																																						ENST00000322301.3																			2	Substitution - coding silent(2)	p.Y290Y(2)	kidney(2)	breast(1)|central_nervous_system(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	26						c.(868-870)taT>taC		olfactory receptor, family 7, subfamily A, member 5							74	72	72					19																	14938184		2203	4300	6503	SO:0001819	synonymous_variant	26659				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr19:14938184A>G	X64976	CCDS12318.1	19p13.1	2012-08-09	2003-12-09			ENSG00000188269		"GPCR / Class A : Olfactory receptors"	8368	protein-coding gene	gene with protein product			"olfactory receptor, family 7, subfamily A, member 5 pseudogene"				Standard	XM_006722722		Approved	HTPCR2	uc002mzw.3	Q15622		ENST00000322301.3:c.870T>C	19.37:g.14938184A>G						OR7A5_ENST00000594432.1_Silent_p.Y290Y|OR7A5_ENST00000601611.1_Intron	p.Y290Y			Q15622	OR7A5_HUMAN			2	957	-			290					B2R682|Q6IFP1|Q96R96	Silent	SNP	ENST00000322301.3	37	c.870T>C	CCDS12318.1																																																																																				0.478	OR7A5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466518.1	NM_017506		4	85	0	0	0	1	0	4	85					G	14938184	A	G	14938184	2	3	332	1	0	0	0	0	0	0	0	1	11216	456	16	4		4	OR7A5	19	14938184	Silent	SNP	A	TCGA-KK-A8I4-01A-11D-A364-08		14938184	44190799	25	16905											
AXL	558	broad.mit.edu	37	chr19	41758339	41758339	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgaccatcccaacgtcatgAggctcatcggtgagagaggg	10	8	13	10	2	2	4	2	3	0	1	4	5	3	4	2	3	1	1	2	3	1	1			TCGA-KK-A8I4-01A-11D-A364-08	TCGA-KK-A8I4-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9dce7b79-9898-4034-bf5a-463e3eba9f39	7b5c45f2-39e1-4da3-af33-4b8f35de09c7	g.chr19:41758339A>G	ENST00000301178.4	+	15	1985	c.1795A>G	c.(1795-1797)Agg>Ggg	p.R599G	AXL_ENST00000593513.1_Missense_Mutation_p.R331G|AXL_ENST00000359092.3_Missense_Mutation_p.R590G	NM_001278599.1|NM_021913.3	NP_001265528.1|NP_068713	P30530	UFO_HUMAN	AXL receptor tyrosine kinase	599	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic cell clearance (GO:0043277)|blood vessel remodeling (GO:0001974)|cell maturation (GO:0048469)|cellular response to extracellular stimulus (GO:0031668)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to interferon-alpha (GO:0035457)|cellular response to lipopolysaccharide (GO:0071222)|dendritic cell differentiation (GO:0097028)|enzyme linked receptor protein signaling pathway (GO:0007167)|erythrocyte homeostasis (GO:0034101)|forebrain cell migration (GO:0021885)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|natural killer cell differentiation (GO:0001779)|negative regulation of dendritic cell apoptotic process (GO:2000669)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of lymphocyte activation (GO:0051250)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of tumor necrosis factor production (GO:0032720)|neuron migration (GO:0001764)|organ regeneration (GO:0031100)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phagocytosis (GO:0006909)|platelet activation (GO:0030168)|positive regulation of cytokine-mediated signaling pathway (GO:0001961)|positive regulation of natural killer cell differentiation (GO:0032825)|positive regulation of protein kinase B signaling (GO:0051897)|protein kinase B signaling (GO:0043491)|secretion by cell (GO:0032940)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)|substrate adhesion-dependent cell spreading (GO:0034446)|vagina development (GO:0060068)	cell surface (GO:0009986)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|phosphatidylserine binding (GO:0001786)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	48						CAACGTCATGAGGCTCATCGG	0.552																																						ENST00000301178.4																			0				breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	48						c.(1795-1797)Agg>Ggg		AXL receptor tyrosine kinase							125	111	115					19																	41758339		2203	4300	6503	SO:0001583	missense	558					integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr19:41758339A>G	M76125	CCDS12574.1, CCDS12575.1, CCDS62677.1	19q13.1	2013-02-11				ENSG00000167601	2.7.10.1	"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	905	protein-coding gene	gene with protein product		109135				1656220	Standard	NM_021913		Approved	UFO, JTK11	uc010ehj.3	P30530		ENST00000301178.4:c.1795A>G	19.37:g.41758339A>G	ENSP00000301178:p.Arg599Gly					AXL_ENST00000359092.3_Missense_Mutation_p.R590G|AXL_ENST00000593513.1_Missense_Mutation_p.R331G	p.R599G	NM_001278599.1|NM_021913.3	NP_001265528.1|NP_068713.2	P30530	UFO_HUMAN			15	1985	+			599			Protein kinase.		Q8N5L2|Q9UD27	Missense_Mutation	SNP	ENST00000301178.4	37	c.1795A>G	CCDS12575.1	.	.	.	.	.	.	.	.	.	.	A	13.78	2.340617	0.41498	.	.	ENSG00000167601	ENST00000301178;ENST00000359092	T;T	0.64085	-0.08;-0.08	4.47	2.29	0.28610	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.46112	0.1376	L	0.31294	0.92	0.45791	D	0.99867	P;P	0.40431	0.669;0.717	B;B	0.36186	0.139;0.219	T	0.39820	-0.9595	10	0.62326	D	0.03	-19.1156	10.313	0.43721	0.6831:0.3169:0.0:0.0	.	590;599	P30530-2;P30530	.;UFO_HUMAN	G	599;590	ENSP00000301178:R599G;ENSP00000351995:R590G	ENSP00000301178:R599G	R	+	1	2	AXL	46450179	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	3.240000	0.51368	0.215000	0.20761	-0.316000	0.08728	AGG		0.552	AXL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000463323.2			5	36	0	0	0	1	0	5	36					G	41758339	A	G	41758339	3	3	332	1	0	0	0	0	1	0	0	0	1238	295	11	4	1853	4	AXL	19	41758339	Missense_Mutation	SNP	A	TCGA-KK-A8I4-01A-11D-A364-08	26820155	41758339	17370644	26	16906											
PNKP	11284	broad.mit.edu	37	chr19	50370408	50370408	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcaggaagatggggggcgcTcccccaggggggctctcgag	6	4	20	11	2	1	1	0	0	1	1	3	3	2	2	2	8	0	3	2	8	1	0			TCGA-KK-A8I4-01A-11D-A364-08	TCGA-KK-A8I4-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9dce7b79-9898-4034-bf5a-463e3eba9f39	7b5c45f2-39e1-4da3-af33-4b8f35de09c7	g.chr19:50370408T>C	ENST00000322344.3	-	2	163	c.54A>G	c.(52-54)ggA>ggG	p.G18G	PNKP_ENST00000600573.1_Silent_p.G18G|PNKP_ENST00000595792.1_5'UTR|PNKP_ENST00000600910.1_Silent_p.G18G|PNKP_ENST00000596014.1_Silent_p.G18G	NM_007254.3	NP_009185.2	Q96T60	PNKP_HUMAN	polynucleotide kinase 3'-phosphatase	18	FHA.			G -> E (in Ref. 1; AAD51135). {ECO:0000305}.	dephosphorylation (GO:0016311)|DNA damage response, detection of DNA damage (GO:0042769)|DNA repair (GO:0006281)|DNA-dependent DNA replication (GO:0006261)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleotide phosphorylation (GO:0046939)|nucleotide-excision repair, DNA damage removal (GO:0000718)|polynucleotide 3' dephosphorylation (GO:0098506)|response to oxidative stress (GO:0006979)|response to radiation (GO:0009314)	membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity (GO:0046404)|damaged DNA binding (GO:0003684)|double-stranded DNA binding (GO:0003690)|endonuclease activity (GO:0004519)|nucleotide kinase activity (GO:0019201)|polynucleotide 3'-phosphatase activity (GO:0046403)|purine nucleotide binding (GO:0017076)			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|urinary_tract(1)	19		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		GBM - Glioblastoma multiforme(134;0.0118)|OV - Ovarian serous cystadenocarcinoma(262;0.0134)		TGGGGGGCGCTCCCCCAGGGG	0.711								Other BER factors																														ENST00000322344.3																			0				breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|urinary_tract(1)	19						c.(52-54)ggA>ggG	Other BER factors	polynucleotide kinase 3'-phosphatase							13	16	15					19																	50370408		2177	4247	6424	SO:0001819	synonymous_variant	11284				DNA damage response, detection of DNA damage|DNA-dependent DNA replication|nucleotide-excision repair, DNA damage removal|response to oxidative stress|response to radiation	nucleolus	ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|damaged DNA binding|double-stranded DNA binding|endonuclease activity|nucleotide kinase activity|polynucleotide 3'-phosphatase activity|protein binding	g.chr19:50370408T>C	AF126486	CCDS12783.1	19q13.3-q13.4	2008-02-05				ENSG00000039650			9154	protein-coding gene	gene with protein product		605610				10446192, 10446193	Standard	NM_007254		Approved	PNK	uc002pqj.3	Q96T60		ENST00000322344.3:c.54A>G	19.37:g.50370408T>C						PNKP_ENST00000595792.1_5'UTR|PNKP_ENST00000600910.1_Silent_p.G18G|PNKP_ENST00000596014.1_Silent_p.G18G|PNKP_ENST00000600573.1_Silent_p.G18G	p.G18G	NM_007254.3	NP_009185.2	Q96T60	PNKP_HUMAN		GBM - Glioblastoma multiforme(134;0.0118)|OV - Ovarian serous cystadenocarcinoma(262;0.0134)	2	163	-		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)	18	G -> E (in Ref. 1; AAD51135).				Q9BUL2|Q9P1V2|Q9UKU8|Q9UNF8|Q9UNI0	Silent	SNP	ENST00000322344.3	37	c.54A>G	CCDS12783.1																																																																																				0.711	PNKP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465830.1	NM_007254		5	21	0	0	0	1	0	5	21					C	50370408	T	C	50370408	2	2	332	1	0	0	0	0	0	0	0	1	12147	1538	54	4		4	PNKP	19	50370408	Silent	SNP	T	TCGA-KK-A8I4-01A-11D-A364-08	8612069	50370408	8758575	27	16907											
KLK12	43849	broad.mit.edu	37	chr19	51534119	51534119	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ctcccgggatacacaccatgGcaggtggcatgggagacgat	10	6	14	11	2	0	1	0	0	0	1	1	4	1	2	2	5	1	2	2	5	1	1			TCGA-KK-A8I4-01A-11D-A364-08	TCGA-KK-A8I4-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9dce7b79-9898-4034-bf5a-463e3eba9f39	7b5c45f2-39e1-4da3-af33-4b8f35de09c7	g.chr19:51534119G>T	ENST00000525263.1	-	4	635	c.516C>A	c.(514-516)tgC>tgA	p.C172*	KLK12_ENST00000529888.1_Missense_Mutation_p.P86T|CTC-518B2.9_ENST00000594910.1_RNA|KLK11_ENST00000319720.7_5'Flank|KLK12_ENST00000250351.4_Nonsense_Mutation_p.C172*|KLK12_ENST00000319590.4_Nonsense_Mutation_p.C172*|KLK12_ENST00000250352.11_Nonsense_Mutation_p.C62*|KLK11_ENST00000391804.3_5'Flank			Q9UKR0	KLK12_HUMAN	kallikrein-related peptidase 12	172	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				proteolysis (GO:0006508)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			endometrium(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1)	12		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00328)|GBM - Glioblastoma multiforme(134;0.00399)		ACACACCATGGCAGGTGGCAT	0.622																																						ENST00000250352.11																			0				endometrium(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1)	12						c.(184-186)tgC>tgA		kallikrein-related peptidase 12							166	151	156					19																	51534119		2203	4300	6503	SO:0001587	stop_gained	43849				proteolysis	extracellular region|soluble fraction	serine-type endopeptidase activity	g.chr19:51534119G>T		CCDS12820.1, CCDS12821.1, CCDS54298.1	19q13.33	2008-02-05	2006-10-27		ENSG00000186474	ENSG00000186474		"Kallikreins"	6360	protein-coding gene	gene with protein product		605539	"kallikrein 12"			16800724, 16800723	Standard	NM_019598		Approved	KLK-L5	uc002pvh.1	Q9UKR0	OTTHUMG00000165806	ENST00000525263.1:c.516C>A	19.37:g.51534119G>T	ENSP00000436458:p.Cys172*					KLK12_ENST00000319590.4_Nonsense_Mutation_p.C172*|KLK12_ENST00000250351.4_Nonsense_Mutation_p.C172*|CTC-518B2.9_ENST00000594910.1_RNA|KLK12_ENST00000529888.1_Missense_Mutation_p.P86T|KLK12_ENST00000525263.1_Nonsense_Mutation_p.C172*	p.C62*			Q9UKR0	KLK12_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00328)|GBM - Glioblastoma multiforme(134;0.00399)	4	859	-		all_neural(266;0.026)	172			Peptidase S1.		Q9UKR1|Q9UKR2	Nonsense_Mutation	SNP	ENST00000525263.1	37	c.186C>A	CCDS12821.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	37|37	6.435253|6.435253	0.97564|0.97564	.|.	.|.	ENSG00000186474|ENSG00000186474	ENST00000525263;ENST00000319590;ENST00000250352;ENST00000250351|ENST00000529888	.|D	.|0.82526	.|-1.62	4.53|4.53	2.34|2.34	0.29019|0.29019	.|.	0.000000|.	0.39020|.	N|.	0.001489|.	.|T	.|0.71871	.|0.3391	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|B	.|0.10296	.|0.003	.|B	.|0.11329	.|0.006	.|T	.|0.69224	.|-0.5201	.|7	0.02654|0.39692	T|T	1|0.17	.|.	6.6799|6.6799	0.23115|0.23115	0.2991:0.0:0.7009:0.0|0.2991:0.0:0.7009:0.0	.|.	.|86	.|Q9UKR2	.|.	X|T	172;172;62;172|86	.|ENSP00000434036:P86T	ENSP00000250351:C172X|ENSP00000434036:P86T	C|P	-|-	3|1	2|0	KLK12|KLK12	56225931|56225931	0.032000|0.032000	0.19561|0.19561	0.589000|0.589000	0.28718|0.28718	0.018000|0.018000	0.09664|0.09664	-0.014000|-0.014000	0.12656|0.12656	1.131000|1.131000	0.42111|0.42111	0.484000|0.484000	0.47621|0.47621	TGC|CCA		0.622	KLK12-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000386288.1	NM_019598		8	121	1	0	5.18039e-06	1	5.62128e-06	8	121					T	51534119	G	T	51534119	4	4	332	1	0	0	0	0	0	1	0	0	8400	1204	42	5	300	5	KLK12	19	51534119	Nonsense_Mutation	SNP	G	TCGA-KK-A8I4-01A-11D-A364-08	1163711	51534119	7594864	28	16908											
C20orf26	26074	broad.mit.edu	37	chr20	20232251	20232251	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttgcagccactgttttaaTgataaagattatgcactgat	12	15	7	7	0	0	3	0	2	0	1	0	3	0	3	1	0	3	3	1	0	4	5			TCGA-KK-A8I4-01A-11D-A364-08	TCGA-KK-A8I4-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9dce7b79-9898-4034-bf5a-463e3eba9f39	7b5c45f2-39e1-4da3-af33-4b8f35de09c7	g.chr20:20232251T>C	ENST00000245957.5	+	20	2248	c.2172T>C	c.(2170-2172)aaT>aaC	p.N724N	C20orf26_ENST00000377293.1_Silent_p.N80N|C20orf26_ENST00000377309.2_Silent_p.N80N|C20orf26_ENST00000389656.3_Silent_p.N80N	NM_015585.3	NP_056400.3	Q8NHU2	CT026_HUMAN		724										NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	77				READ - Rectum adenocarcinoma(2;0.171)		ACTGTTTTAATGATAAAGATT	0.488																																						ENST00000245957.5																			0				NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	77						c.(2170-2172)aaT>aaC		chromosome 20 open reading frame 26							181	160	167					20																	20232251		2203	4300	6503	SO:0001819	synonymous_variant	26074							g.chr20:20232251T>C																												ENST00000245957.5:c.2172T>C	20.37:g.20232251T>C						C20orf26_ENST00000377293.1_Silent_p.N80N|C20orf26_ENST00000377309.2_Silent_p.N80N|C20orf26_ENST00000389656.3_Silent_p.N80N	p.N724N	NM_015585.3	NP_056400.3	Q8NHU2	CT026_HUMAN		READ - Rectum adenocarcinoma(2;0.171)	20	2248	+			724					A6NHA1|Q5JXV4|Q5TE18|Q8N5R9|Q96M59|Q9BQL2|Q9H127|Q9H128|Q9NQH4|Q9UFV8|Q9Y4V7	Silent	SNP	ENST00000245957.5	37	c.2172T>C	CCDS33447.1																																																																																				0.488	C20orf26-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078228.3			17	170	0	0	0	1	0	17	170					C	20232251	T	C	20232251	2	2	332	1	0	0	0	0	0	0	0	1	2106	1461	51	4		4	C20orf26	20	20232251	Silent	SNP	T	TCGA-KK-A8I4-01A-11D-A364-08		20232251	42793269	29	16909											
SLC12A5	57468	broad.mit.edu	37	chr20	44669099	44669099	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgaacaacatgcgtgtttacGgcacctgtgtgctcacctgc	8	11	10	12	2	1	1	1	1	0	0	1	1	1	1	2	1	6	3	2	1	3	2			TCGA-KK-A8I4-01A-11D-A364-08	TCGA-KK-A8I4-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9dce7b79-9898-4034-bf5a-463e3eba9f39	7b5c45f2-39e1-4da3-af33-4b8f35de09c7	g.chr20:44669099G>A	ENST00000454036.2	+	7	818	c.769G>A	c.(769-771)Ggc>Agc	p.G257S	SLC12A5_ENST00000372315.1_Missense_Mutation_p.G234S|SLC12A5_ENST00000243964.3_Missense_Mutation_p.G234S	NM_001134771.1	NP_001128243.1	Q9H2X9	S12A5_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 5	257					cellular ion homeostasis (GO:0006873)|chloride transmembrane transport (GO:1902476)|ion transport (GO:0006811)|learning (GO:0007612)|multicellular organism growth (GO:0035264)|potassium ion transport (GO:0006813)|response to drug (GO:0042493)|synaptic transmission (GO:0007268)|thermosensory behavior (GO:0040040)|transmembrane transport (GO:0055085)|transport (GO:0006810)	dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	GCGTGTTTACGGCACCTGTGT	0.542																																						ENST00000454036.1																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80						c.(769-771)Ggc>Agc		solute carrier family 12 (potassium/chloride transporter), member 5	Bumetanide(DB00887)|Potassium Chloride(DB00761)						369	283	312					20																	44669099		2203	4300	6503	SO:0001583	missense	57468				potassium ion transport|sodium ion transport	integral to membrane	potassium:chloride symporter activity	g.chr20:44669099G>A	AB033002	CCDS13391.1, CCDS46610.1	20q13.12	2013-05-22	2010-04-20		ENSG00000124140	ENSG00000124140		"Solute carriers"	13818	protein-coding gene	gene with protein product		606726					Standard	NM_020708		Approved	KIAA1176, KCC2	uc010zxl.1	Q9H2X9	OTTHUMG00000032638	ENST00000454036.2:c.769G>A	20.37:g.44669099G>A	ENSP00000387694:p.Gly257Ser					SLC12A5_ENST00000539566.1_Intron|SLC12A5_ENST00000372315.1_Missense_Mutation_p.G234S|SLC12A5_ENST00000243964.3_Missense_Mutation_p.G234S	p.G257S	NM_001134771.1	NP_001128243.1	Q9H2X9	S12A5_HUMAN			7	845	+		Myeloproliferative disorder(115;0.0122)	257					A2RTX2|Q5VZ41|Q9H4Z0|Q9ULP4	Missense_Mutation	SNP	ENST00000454036.2	37	c.769G>A	CCDS46610.1	.	.	.	.	.	.	.	.	.	.	G	28.9	4.960801	0.92791	.	.	ENSG00000124140	ENST00000454036;ENST00000372315;ENST00000243964	D;D;D	0.99014	-5.33;-5.33;-5.33	4.96	4.96	0.65561	Amino acid permease domain (1);	0.000000	0.85682	D	0.000000	D	0.99196	0.9721	M	0.79258	2.445	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.80764	0.994;0.992;0.988	D	0.99383	1.0923	10	0.54805	T	0.06	.	17.3986	0.87453	0.0:0.0:1.0:0.0	.	257;234;234	Q9H2X9;Q9H2X9-2;A8K143	S12A5_HUMAN;.;.	S	257;234;234	ENSP00000387694:G257S;ENSP00000361389:G234S;ENSP00000243964:G234S	ENSP00000243964:G234S	G	+	1	0	SLC12A5	44102506	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	9.657000	0.98554	2.572000	0.86782	0.655000	0.94253	GGC		0.542	SLC12A5-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000471538.1			35	121	0	0	0	1	0	35	121					A	44669099	G	A	44669099	3	1	332	1	0	0	0	0	1	0	0	0	14386	1116	39	2	851	2	SLC12A5	20	44669099	Missense_Mutation	SNP	G	TCGA-KK-A8I4-01A-11D-A364-08	24436848	44669099	18356421	30	16910											
EDN3	1908	broad.mit.edu	37	chr20	57876663	57876663	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagccctgggcaggagcaggCggccgagggggcccctgagc	7	2	19	13	2	0	1	0	1	0	0	0	3	0	2	4	6	3	2	4	6	1	0	rs142051051		TCGA-KK-A8I4-01A-11D-A364-08	TCGA-KK-A8I4-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9dce7b79-9898-4034-bf5a-463e3eba9f39	7b5c45f2-39e1-4da3-af33-4b8f35de09c7	g.chr20:57876663C>T	ENST00000337938.2	+	2	637	c.251C>T	c.(250-252)gCg>gTg	p.A84V	EDN3_ENST00000371028.2_Missense_Mutation_p.A84V|EDN3_ENST00000395654.3_Missense_Mutation_p.A84V|EDN3_ENST00000371025.3_Missense_Mutation_p.A84V|EDN3_ENST00000311585.7_Missense_Mutation_p.A84V	NM_207034.1	NP_996917.1	P14138	EDN3_HUMAN	endothelin 3	84					blood circulation (GO:0008015)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|inositol phosphate-mediated signaling (GO:0048016)|melanocyte differentiation (GO:0030318)|multicellular organismal development (GO:0007275)|neural crest cell migration (GO:0001755)|neuron differentiation (GO:0030182)|neutrophil chemotaxis (GO:0030593)|peptide hormone secretion (GO:0030072)|positive regulation of cell proliferation (GO:0008284)|positive regulation of heart rate (GO:0010460)|positive regulation of hormone secretion (GO:0046887)|positive regulation of leukocyte chemotaxis (GO:0002690)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of mitosis (GO:0045840)|regulation of developmental pigmentation (GO:0048070)|regulation of systemic arterial blood pressure by endothelin (GO:0003100)|regulation of vasoconstriction (GO:0019229)|signal transduction (GO:0007165)|vasoconstriction (GO:0042310)|vein smooth muscle contraction (GO:0014826)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	hormone activity (GO:0005179)|receptor binding (GO:0005102)	p.A84E(4)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(9)|skin(2)|upper_aerodigestive_tract(2)	19	all_lung(29;0.0115)					CAGGAGCAGGCGGCCGAGGGG	0.662																																						ENST00000311585.7																			4	Substitution - Missense(4)	p.A84E(4)	lung(4)	endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(9)|skin(2)|upper_aerodigestive_tract(2)	19						c.(250-252)gCg>gTg		endothelin 3							67	67	67					20																	57876663		2203	4298	6501	SO:0001583	missense	1908				cell surface receptor linked signaling pathway|inositol phosphate-mediated signaling|neutrophil chemotaxis|peptide hormone secretion|positive regulation of heart rate|positive regulation of hormone secretion|positive regulation of leukocyte chemotaxis|positive regulation of MAP kinase activity|positive regulation of mitosis|regulation of systemic arterial blood pressure by endothelin|regulation of vasoconstriction|vein smooth muscle contraction	extracellular space|soluble fraction	endothelin B receptor binding|hormone activity	g.chr20:57876663C>T	X52001	CCDS13477.1, CCDS13478.1, CCDS13479.1	20q13.2-q13.3	2013-02-26			ENSG00000124205	ENSG00000124205		"Endogenous ligands"	3178	protein-coding gene	gene with protein product		131242					Standard	NM_000114		Approved	ET3	uc002yaq.3	P14138	OTTHUMG00000032867	ENST00000337938.2:c.251C>T	20.37:g.57876663C>T	ENSP00000337128:p.Ala84Val					EDN3_ENST00000371028.2_Missense_Mutation_p.A84V|EDN3_ENST00000395654.3_Missense_Mutation_p.A84V|EDN3_ENST00000371025.3_Missense_Mutation_p.A84V|EDN3_ENST00000337938.2_Missense_Mutation_p.A84V	p.A84V	NM_207032.1	NP_996915.1	P14138	EDN3_HUMAN			2	621	+	all_lung(29;0.0115)		84					E1P5I5|Q03229|Q7Z6D2|Q9UGT7	Missense_Mutation	SNP	ENST00000337938.2	37	c.251C>T	CCDS13477.1	.	.	.	.	.	.	.	.	.	.	C	9.632	1.136676	0.21123	.	.	ENSG00000124205	ENST00000337938;ENST00000311585;ENST00000371028;ENST00000371025;ENST00000395654	D;D;D;D;D	0.86627	-2.15;-2.15;-2.15;-2.15;-2.15	4.8	-9.59	0.00556	.	5.397720	0.00977	N	0.003325	T	0.76983	0.4064	L	0.42245	1.32	0.09310	N	1	B;B;B;B	0.09022	0.002;0.001;0.001;0.002	B;B;B;B	0.08055	0.003;0.002;0.002;0.001	T	0.60352	-0.7280	10	0.40728	T	0.16	-4.3155	1.688	0.02845	0.2978:0.34:0.1841:0.1781	.	84;84;84;84	P14138-2;Q7Z6D2;P14138;Q4FAT2	.;.;EDN3_HUMAN;.	V	84	ENSP00000337128:A84V;ENSP00000311854:A84V;ENSP00000360067:A84V;ENSP00000360064:A84V;ENSP00000379015:A84V	ENSP00000311854:A84V	A	+	2	0	EDN3	57310058	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.245000	0.02899	-2.172000	0.00774	-4.272000	0.00008	GCG		0.662	EDN3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079919.2	NM_000114		27	66	0	0	0	1	0	27	66					T	57876663	C	T	57876663	3	4	332	1	0	0	0	0	1	0	0	0	4918	768	27	1	257	1	EDN3	20	57876663	Missense_Mutation	SNP	C	TCGA-KK-A8I4-01A-11D-A364-08	13207564	57876663	5148857	31	16911											
GRIK3	2899	broad.mit.edu	37	chr1	37346388	37346388	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgcttccaacgcagctggaTgtggggcacctccagggcat	7	8	14	12	1	0	0	0	0	0	0	2	1	2	1	3	4	3	5	3	4	1	1			TCGA-KK-A8I5-01A-11D-A364-08	TCGA-KK-A8I5-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b87ca7d-24d1-4192-8562-96b302bb907f	f4eca61d-ecdb-483b-bfe1-b1dfd5db648b	g.chr1:37346388T>G	ENST00000373091.3	-	3	413	c.397A>C	c.(397-399)Atc>Ctc	p.I133L	GRIK3_ENST00000373093.4_Missense_Mutation_p.I133L	NM_000831.3	NP_000822.2	Q13003	GRIK3_HUMAN	glutamate receptor, ionotropic, kainate 3	133					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	axon (GO:0030424)|cell junction (GO:0030054)|dendrite (GO:0030425)|dendrite cytoplasm (GO:0032839)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	adenylate cyclase inhibiting G-protein coupled glutamate receptor activity (GO:0001640)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|ionotropic glutamate receptor activity (GO:0004970)|kainate selective glutamate receptor activity (GO:0015277)			breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	89		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)				CGCAGCTGGATGTGGGGCACC	0.622																																						ENST00000373091.3																			0				breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	89						c.(397-399)Atc>Ctc		glutamate receptor, ionotropic, kainate 3	L-Glutamic Acid(DB00142)						208	183	191					1																	37346388		2203	4300	6503	SO:0001583	missense	2899				negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission	cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button	adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|G-protein-coupled receptor binding|kainate selective glutamate receptor activity	g.chr1:37346388T>G	U16127	CCDS416.1	1p34.3	2012-08-29			ENSG00000163873	ENSG00000163873		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4581	protein-coding gene	gene with protein product		138243				8128318	Standard	NM_000831		Approved	GluK3, GLUR7	uc001caz.2	Q13003	OTTHUMG00000004189	ENST00000373091.3:c.397A>C	1.37:g.37346388T>G	ENSP00000362183:p.Ile133Leu					GRIK3_ENST00000373093.4_Missense_Mutation_p.I133L	p.I133L	NM_000831.3	NP_000822.2	Q13003	GRIK3_HUMAN			3	413	-		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)	133					A9Z1Z8|B1AMS6|Q13004|Q16136	Missense_Mutation	SNP	ENST00000373091.3	37	c.397A>C	CCDS416.1	.	.	.	.	.	.	.	.	.	.	T	13.51	2.259284	0.39995	.	.	ENSG00000163873	ENST00000373091;ENST00000373093	D;D	0.86562	-2.14;-2.14	4.77	4.77	0.60923	Extracellular ligand-binding receptor (1);	0.272270	0.36167	N	0.002750	T	0.81178	0.4768	L	0.31294	0.92	0.45995	D	0.998809	B;B	0.02656	0.0;0.0	B;B	0.24155	0.051;0.051	T	0.76116	-0.3077	10	0.30854	T	0.27	.	14.5839	0.68310	0.0:0.0:0.0:1.0	.	133;133	A9Z1Z8;Q13003	.;GRIK3_HUMAN	L	133	ENSP00000362183:I133L;ENSP00000362185:I133L	ENSP00000362183:I133L	I	-	1	0	GRIK3	37118975	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	2.521000	0.45563	1.919000	0.55581	0.459000	0.35465	ATC		0.622	GRIK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012053.1	NM_000831		20	38	0	0	0	1	0	20	38					G	37346388	T	G	37346388	3	3	333	1	0	0	0	0	1	0	0	0	6775	1464	51	5	2418	5	GRIK3	1	37346388	Missense_Mutation	SNP	T	TCGA-KK-A8I5-01A-11D-A364-08		37346388	211904233	1	16912											
NRD1	4898	broad.mit.edu	37	chr1	52280418	52280418	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtaatagaaatgctgaacaCtgaataagtagaattttgct	16	13	8	4	0	0	4	0	2	0	2	0	4	0	4	0	0	3	4	0	0	8	6			TCGA-KK-A8I5-01A-11D-A364-08	TCGA-KK-A8I5-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b87ca7d-24d1-4192-8562-96b302bb907f	f4eca61d-ecdb-483b-bfe1-b1dfd5db648b	g.chr1:52280418C>T	ENST00000354831.7	-	14	1900	c.1711G>A	c.(1711-1713)Gtg>Atg	p.V571M	NRD1_ENST00000352171.7_Missense_Mutation_p.V503M|NRD1_ENST00000544028.1_Missense_Mutation_p.V371M|NRD1_ENST00000485608.1_5'UTR|NRD1_ENST00000539524.1_Missense_Mutation_p.V439M	NM_002525.2	NP_002516.2	O43847	NRDC_HUMAN	nardilysin (N-arginine dibasic convertase)	502					cell migration (GO:0016477)|cell proliferation (GO:0008283)|neuromuscular junction development (GO:0007528)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|proteolysis (GO:0006508)|regulation of endopeptidase activity (GO:0052548)	cell surface (GO:0009986)|cytosol (GO:0005829)	epidermal growth factor binding (GO:0048408)|metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1)	27						ATGCTGAACACTGAATAAGTA	0.353																																						ENST00000354831.7																			0				NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1)	27						c.(1711-1713)Gtg>Atg		nardilysin (N-arginine dibasic convertase)							58	55	56					1																	52280418		2203	4300	6503	SO:0001583	missense	4898				cell migration|cell proliferation|neuromuscular junction development|positive regulation of membrane protein ectodomain proteolysis|proteolysis|regulation of endopeptidase activity	cell surface|cytosol	epidermal growth factor binding|metalloendopeptidase activity|zinc ion binding	g.chr1:52280418C>T	X93207	CCDS559.1, CCDS41335.1, CCDS55599.1	1p32.2-p32.1	2008-07-18			ENSG00000078618	ENSG00000078618			7995	protein-coding gene	gene with protein product		602651				9581555, 9479496	Standard	NM_002525		Approved	hNRD1, hNRD2	uc001ctc.4	O43847	OTTHUMG00000008278	ENST00000354831.7:c.1711G>A	1.37:g.52280418C>T	ENSP00000346890:p.Val571Met					NRD1_ENST00000544028.1_Missense_Mutation_p.V371M|NRD1_ENST00000539524.1_Missense_Mutation_p.V439M|NRD1_ENST00000352171.7_Missense_Mutation_p.V503M|NRD1_ENST00000485608.1_5'UTR	p.V571M	NM_002525.2	NP_002516.2	O43847	NRDC_HUMAN			14	1900	-			502					A6NI41|O15241|O15242|Q5VUL0|Q96HB2|Q9NU57	Missense_Mutation	SNP	ENST00000354831.7	37	c.1711G>A	CCDS559.1	.	.	.	.	.	.	.	.	.	.	C	16.89	3.248506	0.59103	.	.	ENSG00000078618	ENST00000352171;ENST00000354831;ENST00000539524;ENST00000546169;ENST00000544028	T;T;T;T	0.08896	3.04;3.04;3.04;3.04	5.89	5.89	0.94794	Peptidase M16, C-terminal (1);Metalloenzyme, LuxS/M16 peptidase-like, metal-binding (1);	0.105830	0.64402	D	0.000005	T	0.17831	0.0428	L	0.37697	1.125	0.44424	D	0.997347	P;P;D	0.62365	0.935;0.947;0.991	P;P;P	0.62435	0.682;0.787;0.902	T	0.00092	-1.2083	10	0.56958	D	0.05	-12.064	13.8722	0.63626	0.0:0.9219:0.0:0.0781	.	503;502;571	F5H6R2;O43847;B1AKJ5	.;NRDC_HUMAN;.	M	503;571;439;503;371	ENSP00000262679:V503M;ENSP00000346890:V571M;ENSP00000444416:V439M;ENSP00000442262:V371M	ENSP00000262679:V503M	V	-	1	0	NRD1	52053006	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.719000	0.54926	2.783000	0.95769	0.655000	0.94253	GTG		0.353	NRD1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000023045.1	NM_002525		12	18	0	0	0	1	0	12	18					T	52280418	C	T	52280418	3	4	333	1	0	0	0	0	1	0	0	0	10645	565	20	3	2028	3	NRD1	1	52280418	Missense_Mutation	SNP	C	TCGA-KK-A8I5-01A-11D-A364-08	14934030	52280418	196970203	2	16913											
SLC8A1	6546	broad.mit.edu	37	chr2	40657386	40657386	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gatgaaatcccattgaaaagGtgggtgaaagacttaatcgc	15	9	11	6	1	0	4	0	3	0	1	2	5	1	4	1	2	0	0	1	2	5	2	rs142661656	byFrequency	TCGA-KK-A8I5-01A-11D-A364-08	TCGA-KK-A8I5-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b87ca7d-24d1-4192-8562-96b302bb907f	f4eca61d-ecdb-483b-bfe1-b1dfd5db648b	g.chr2:40657386G>C	ENST00000403092.1	-	2	68	c.35C>G	c.(34-36)aCc>aGc	p.T12S	SLC8A1_ENST00000408028.2_Missense_Mutation_p.T12S|SLC8A1_ENST00000405269.1_Missense_Mutation_p.T12S|SLC8A1_ENST00000332839.4_Missense_Mutation_p.T12S|SLC8A1_ENST00000406391.2_Missense_Mutation_p.T12S|SLC8A1_ENST00000542756.1_Missense_Mutation_p.T12S|SLC8A1_ENST00000405901.3_Missense_Mutation_p.T12S|SLC8A1_ENST00000406785.2_Missense_Mutation_p.T12S|SLC8A1_ENST00000402441.1_Missense_Mutation_p.T12S|SLC8A1_ENST00000542024.1_Missense_Mutation_p.T12S			P32418	NAC1_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 1	12					blood coagulation (GO:0007596)|calcium ion export (GO:1901660)|calcium ion homeostasis (GO:0055074)|calcium ion import (GO:0070509)|calcium ion transport into cytosol (GO:0060402)|cardiac muscle cell development (GO:0055013)|cardiac muscle contraction (GO:0060048)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular response to caffeine (GO:0071313)|cellular response to reactive oxygen species (GO:0034614)|cellular sodium ion homeostasis (GO:0006883)|cytosolic calcium ion transport (GO:0060401)|embryonic heart tube development (GO:0035050)|embryonic placenta development (GO:0001892)|heart morphogenesis (GO:0003007)|ion transport (GO:0006811)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|muscle contraction (GO:0006936)|muscle fiber development (GO:0048747)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|post-embryonic development (GO:0009791)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|relaxation of cardiac muscle (GO:0055119)|relaxation of smooth muscle (GO:0044557)|sodium ion export (GO:0071436)|sodium ion import (GO:0097369)|transmembrane transport (GO:0055085)|vascular smooth muscle contraction (GO:0014829)	basolateral plasma membrane (GO:0016323)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|calcium:sodium antiporter activity (GO:0005432)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	CATTGAAAAGGTGGGTGAAAG	0.408																																						ENST00000406785.1																			0				NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100						c.(34-36)aCc>aGc		solute carrier family 8 (sodium/calcium exchanger), member 1	Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)						81	77	79					2																	40657386		2203	4300	6503	SO:0001583	missense	6546				cell communication|muscle contraction|platelet activation	integral to plasma membrane	calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding	g.chr2:40657386G>C		CCDS1806.1, CCDS46264.1, CCDS46265.1, CCDS59430.1	2p22.1	2013-07-15			ENSG00000183023	ENSG00000183023		"Solute carriers"	11068	protein-coding gene	gene with protein product	"Na+/Ca++ exchanger"	182305		NCX1		1559714	Standard	NM_021097		Approved		uc002rrx.3	P32418	OTTHUMG00000102183	ENST00000403092.1:c.35C>G	2.37:g.40657386G>C	ENSP00000384763:p.Thr12Ser					SLC8A1_ENST00000408028.2_Missense_Mutation_p.T12S|SLC8A1_ENST00000403092.1_Missense_Mutation_p.T12S|SLC8A1_ENST00000402441.1_Missense_Mutation_p.T12S|SLC8A1_ENST00000332839.4_Missense_Mutation_p.T12S|SLC8A1_ENST00000542756.1_Missense_Mutation_p.T12S|SLC8A1_ENST00000542024.1_Missense_Mutation_p.T12S|SLC8A1_ENST00000406391.2_Missense_Mutation_p.T12S|SLC8A1_ENST00000405901.3_Missense_Mutation_p.T12S|SLC8A1_ENST00000405269.1_Missense_Mutation_p.T12S	p.T12S			P32418	NAC1_HUMAN			2	224	-			12					A8K6N1|D6W595|O95849|Q4QQG6|Q587I6|Q59GN4|Q9UBL8|Q9UD55|Q9UDN1|Q9UDN2|Q9UKX6	Missense_Mutation	SNP	ENST00000403092.1	37	c.35C>G	CCDS1806.1	.	.	.	.	.	.	.	.	.	.	G	1.103	-0.660617	0.03454	.	.	ENSG00000183023	ENST00000406785;ENST00000378715;ENST00000542756;ENST00000542640;ENST00000403092;ENST00000405901;ENST00000402441;ENST00000405269;ENST00000332839;ENST00000408028;ENST00000535962;ENST00000406391;ENST00000542024;ENST00000455476;ENST00000448531;ENST00000417271	T;T;T;T;T;T;T;T;T;T	0.26810	1.73;1.75;1.76;1.75;1.73;1.73;1.76;1.71;1.73;1.72	6.04	1.14	0.20703	.	1.003290	0.08019	N	0.991647	T	0.11836	0.0288	N	0.05078	-0.115	0.09310	N	1	B;B;B;B;B	0.11235	0.002;0.004;0.002;0.004;0.002	B;B;B;B;B	0.18561	0.006;0.009;0.006;0.022;0.01	T	0.36553	-0.9743	10	0.27082	T	0.32	.	5.2716	0.15628	0.1947:0.0:0.5455:0.2598	.	12;12;12;12;12	P32418-4;P32418-2;P32418-3;F6VPY9;P32418	.;.;.;.;NAC1_HUMAN	S	12	ENSP00000383886:T12S;ENSP00000440727:T12S;ENSP00000384763:T12S;ENSP00000385678:T12S;ENSP00000385188:T12S;ENSP00000385535:T12S;ENSP00000332931:T12S;ENSP00000384908:T12S;ENSP00000385811:T12S;ENSP00000443515:T12S	ENSP00000332931:T12S	T	-	2	0	SLC8A1	40510890	0.186000	0.23225	0.013000	0.15412	0.732000	0.41865	1.034000	0.30204	-0.064000	0.13043	-0.217000	0.12591	ACC		0.408	SLC8A1-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326065.1	NM_021097		9	30	0	0	0	1	0	9	30					C	40657386	G	C	40657386	3	2	333	1	0	0	0	0	1	0	0	0	14706	1261	44	5	3034	5	SLC8A1	2	40657386	Missense_Mutation	SNP	G	TCGA-KK-A8I5-01A-11D-A364-08		40657386	202541987	3	16914											
CNTNAP5	129684	broad.mit.edu	37	chr2	125281979	125281979	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaagcagcacccccggctcCagacagcacttgggtgcaga	10	5	12	14	1	0	3	0	1	0	2	1	3	1	3	3	2	4	5	3	2	1	1			TCGA-KK-A8I5-01A-11D-A364-08	TCGA-KK-A8I5-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b87ca7d-24d1-4192-8562-96b302bb907f	f4eca61d-ecdb-483b-bfe1-b1dfd5db648b	g.chr2:125281979C>T	ENST00000431078.1	+	9	1788	c.1424C>T	c.(1423-1425)cCa>cTa	p.P475L		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	475	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		CCCCCGGCTCCAGACAGCACT	0.483																																						ENST00000431078.1																			0				NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176						c.(1423-1425)cCa>cTa		contactin associated protein-like 5							52	55	54					2																	125281979		1965	4179	6144	SO:0001583	missense	129684				cell adhesion|signal transduction	integral to membrane	receptor binding	g.chr2:125281979C>T	AB077881	CCDS46401.1	2q14.1	2008-02-05			ENSG00000155052	ENSG00000155052			18748	protein-coding gene	gene with protein product		610519					Standard	NM_130773		Approved	caspr5, FLJ31966	uc002tno.3	Q8WYK1	OTTHUMG00000153356	ENST00000431078.1:c.1424C>T	2.37:g.125281979C>T	ENSP00000399013:p.Pro475Leu						p.P475L	NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.248)	9	1788	+			475			Laminin G-like 2.		Q4ZFW2|Q4ZG21|Q53R09|Q53RX1|Q53SG3|Q584P3|Q96MS7	Missense_Mutation	SNP	ENST00000431078.1	37	c.1424C>T	CCDS46401.1	.	.	.	.	.	.	.	.	.	.	C	3.574	-0.087090	0.07097	.	.	ENSG00000155052	ENST00000431078	T	0.79454	-1.27	5.95	3.56	0.40772	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.427525	0.19599	N	0.110429	T	0.60064	0.2240	N	0.14661	0.345	0.44736	D	0.997734	B	0.02656	0.0	B	0.06405	0.002	T	0.46373	-0.9196	10	0.19590	T	0.45	.	11.5386	0.50653	0.6514:0.3486:0.0:0.0	.	475	Q8WYK1	CNTP5_HUMAN	L	475	ENSP00000399013:P475L	ENSP00000399013:P475L	P	+	2	0	CNTNAP5	124998449	0.518000	0.26234	0.928000	0.36995	0.010000	0.07245	1.475000	0.35409	0.478000	0.27488	-0.274000	0.10170	CCA		0.483	CNTNAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330864.3			6	27	0	0	0	1	0	6	27					T	125281979	C	T	125281979	3	4	333	1	0	0	0	0	1	0	0	0	3650	594	21	3	1458	3	CNTNAP5	2	125281979	Missense_Mutation	SNP	C	TCGA-KK-A8I5-01A-11D-A364-08	84624593	125281979	117917394	4	16915											
UBXN4	23190	broad.mit.edu	37	chr2	136527363	136527363	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	acaaaaaaacttgaagaaagGagagaagagaaaagaaaaga	27	2	10	2	0	0	6	0	1	0	5	0	9	0	7	0	1	1	0	0	1	10	1			TCGA-KK-A8I5-01A-11D-A364-08	TCGA-KK-A8I5-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b87ca7d-24d1-4192-8562-96b302bb907f	f4eca61d-ecdb-483b-bfe1-b1dfd5db648b	g.chr2:136527363G>A	ENST00000272638.9	+	7	938	c.627G>A	c.(625-627)agG>agA	p.R209R	UBXN4_ENST00000490163.1_3'UTR	NM_014607.3	NP_055422.1	Q92575	UBXN4_HUMAN	UBX domain protein 4	209					response to unfolded protein (GO:0006986)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleus (GO:0005634)				NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	24						TTGAAGAAAGGAGAGAAGAGA	0.303																																						ENST00000272638.9																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	24						c.(625-627)agG>agA		UBX domain protein 4							156	158	157					2																	136527363		1837	4082	5919	SO:0001819	synonymous_variant	23190				response to unfolded protein	endoplasmic reticulum membrane|nuclear envelope	protein binding	g.chr2:136527363G>A	D87684	CCDS42761.1	2q21.3-q22.1	2008-07-25	2008-07-25	2008-07-25	ENSG00000144224	ENSG00000144224		"UBX domain containing"	14860	protein-coding gene	gene with protein product	"erasin"	611216	"UBX domain-containing 2", "UBX domain containing 2"	UBXDC1, UBXD2		16968747	Standard	NM_014607		Approved	KIAA0242	uc002tur.3	Q92575	OTTHUMG00000153577	ENST00000272638.9:c.627G>A	2.37:g.136527363G>A						UBXN4_ENST00000490163.1_3'UTR	p.R209R	NM_014607.3	NP_055422.1	Q92575	UBXN4_HUMAN			7	938	+			209					A8K9W4|Q4ZG56|Q8IYM5	Silent	SNP	ENST00000272638.9	37	c.627G>A	CCDS42761.1																																																																																				0.303	UBXN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331696.1	NM_014607		6	32	0	0	0	1	0	6	32					A	136527363	G	A	136527363	2	1	333	1	0	0	0	0	0	0	0	1	16913	1165	41	3		3	UBXN4	2	136527363	Silent	SNP	G	TCGA-KK-A8I5-01A-11D-A364-08	11245384	136527363	106672010	5	16916											
GIGYF2	26058	broad.mit.edu	37	chr2	233677165	233677165	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccgtgccagatactggctctAtctgggagcttcagccaaca	9	9	10	13	1	3	1	1	0	2	1	3	2	3	2	3	2	5	2	3	2	3	3			TCGA-KK-A8I5-01A-11D-A364-08	TCGA-KK-A8I5-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b87ca7d-24d1-4192-8562-96b302bb907f	f4eca61d-ecdb-483b-bfe1-b1dfd5db648b	g.chr2:233677165A>G	ENST00000409547.1	+	20	2382	c.2071A>G	c.(2071-2073)Atc>Gtc	p.I691V	GIGYF2_ENST00000409480.1_Missense_Mutation_p.I713V|GIGYF2_ENST00000409196.3_Missense_Mutation_p.I685V|GIGYF2_ENST00000373566.3_Missense_Mutation_p.I713V|GIGYF2_ENST00000373563.4_Missense_Mutation_p.I691V|GIGYF2_ENST00000409451.3_Missense_Mutation_p.I712V|GIGYF2_ENST00000452341.2_Missense_Mutation_p.I522V	NM_015575.3	NP_056390.2	Q6Y7W6	PERQ2_HUMAN	GRB10 interacting GYF protein 2	691	Gln-rich.				adult locomotory behavior (GO:0008344)|cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|feeding behavior (GO:0007631)|homeostasis of number of cells within a tissue (GO:0048873)|insulin-like growth factor receptor signaling pathway (GO:0048009)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|musculoskeletal movement (GO:0050881)|negative regulation of translation (GO:0017148)|neuromuscular process controlling balance (GO:0050885)|post-embryonic development (GO:0009791)|spinal cord motor neuron differentiation (GO:0021522)	membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(17)|lung(11)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	63		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145)		TACTGGCTCTATCTGGGAGCT	0.383																																						ENST00000373566.3																			0				NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(17)|lung(11)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	63						c.(2137-2139)Atc>Gtc		GRB10 interacting GYF protein 2							73	71	72					2																	233677165		2203	4300	6503	SO:0001583	missense	26058				cell death		protein binding	g.chr2:233677165A>G	U80751	CCDS33401.1, CCDS46542.1, CCDS46543.1	2q37.1	2011-07-06	2008-02-11	2008-02-11	ENSG00000204120	ENSG00000204120		"Trinucleotide (CAG) repeat containing"	11960	protein-coding gene	gene with protein product	"GYF domain containing 2"	612003	"PERQ amino acid rich, with GYF domain 2", "PERQ amino acid rich, with GYF domain 3", "trinucleotide repeat containing 15", "Parkinson disease (autosomal recessive, early onset) 11"	PERQ2, PERQ3, TNRC15, PARK11		9225980, 9734811, 12771153, 18358451, 19279319	Standard	NM_015575		Approved	KIAA0642, GYF2	uc002vtk.4	Q6Y7W6	OTTHUMG00000153237	ENST00000409547.1:c.2071A>G	2.37:g.233677165A>G	ENSP00000386537:p.Ile691Val					GIGYF2_ENST00000452341.2_Missense_Mutation_p.I522V|GIGYF2_ENST00000409480.1_Missense_Mutation_p.I713V|GIGYF2_ENST00000409451.3_Missense_Mutation_p.I712V|GIGYF2_ENST00000409196.3_Missense_Mutation_p.I685V|GIGYF2_ENST00000373563.4_Missense_Mutation_p.I691V|GIGYF2_ENST00000409547.1_Missense_Mutation_p.I691V	p.I713V			Q6Y7W6	PERQ2_HUMAN		Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145)	19	2334	+		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)	691			Gln-rich.		A6H8W4|B9EG55|E9PBB0|O75137|Q7Z2Z8|Q7Z3I2|Q96HU4|Q9NV82	Missense_Mutation	SNP	ENST00000409547.1	37	c.2137A>G	CCDS33401.1	.	.	.	.	.	.	.	.	.	.	A	12.32	1.901139	0.33535	.	.	ENSG00000204120	ENST00000373566;ENST00000414511;ENST00000373563;ENST00000409480;ENST00000409547;ENST00000535418;ENST00000423659;ENST00000409196;ENST00000409451;ENST00000440945;ENST00000452341	T;T;T;T;T;T;T;T;T	0.74421	-0.61;-0.58;-0.61;-0.58;-0.79;-0.58;-0.62;-0.84;-0.49	5.28	5.28	0.74379	.	0.126685	0.53938	D	0.000058	T	0.58278	0.2111	N	0.21583	0.68	0.38409	D	0.945874	P;B;B;P	0.35107	0.484;0.179;0.075;0.456	B;B;B;B	0.34452	0.183;0.044;0.028;0.134	T	0.59037	-0.7529	10	0.16896	T	0.51	-9.6479	11.2481	0.49008	0.847:0.1529:0.0:0.0	.	522;712;691;685	E9PC50;A6H8W4;Q6Y7W6;E9PBB0	.;.;PERQ2_HUMAN;.	V	713;634;691;713;691;691;634;685;712;685;522	ENSP00000362667:I713V;ENSP00000362664:I691V;ENSP00000386765:I713V;ENSP00000386537:I691V;ENSP00000404195:I634V;ENSP00000387070:I685V;ENSP00000387170:I712V;ENSP00000410297:I685V;ENSP00000411505:I522V	ENSP00000362664:I691V	I	+	1	0	GIGYF2	233385409	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.387000	0.59626	1.998000	0.58463	0.533000	0.62120	ATC		0.383	GIGYF2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000330316.2	NM_001103146		5	26	0	0	0	1	0	5	26					G	233677165	A	G	233677165	3	3	333	1	0	0	0	0	1	0	0	0	6378	449	16	4	2203	4	GIGYF2	2	233677165	Missense_Mutation	SNP	A	TCGA-KK-A8I5-01A-11D-A364-08	97149802	233677165	9522208	6	16917											
CSRNP1	64651	broad.mit.edu	37	chr3	39186547	39186547	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggcggagcttctcgtgccGtgcacgggcttgctcctgcg	2	10	15	14	5	1	0	0	0	1	0	3	1	2	1	2	3	5	4	2	3	0	2			TCGA-KK-A8I5-01A-11D-A364-08	TCGA-KK-A8I5-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b87ca7d-24d1-4192-8562-96b302bb907f	f4eca61d-ecdb-483b-bfe1-b1dfd5db648b	g.chr3:39186547G>A	ENST00000273153.5	-	3	583	c.406C>T	c.(406-408)Cgg>Tgg	p.R136W	CSRNP1_ENST00000514182.1_Missense_Mutation_p.R136W	NM_033027.3	NP_149016.2	Q96S65	CSRN1_HUMAN	cysteine-serine-rich nuclear protein 1	136					apoptotic process (GO:0006915)|face morphogenesis (GO:0060325)|palate development (GO:0060021)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic development (GO:0009791)|skeletal system morphogenesis (GO:0048705)	nucleus (GO:0005634)	RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|skin(3)	24						TTCTCGTGCCGTGCACGGGCT	0.612																																						ENST00000273153.5																			0				central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|skin(3)	24						c.(406-408)Cgg>Tgg		cysteine-serine-rich nuclear protein 1							69	58	62					3																	39186547		2203	4300	6503	SO:0001583	missense	64651				apoptosis|positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr3:39186547G>A	AB053121	CCDS2682.1	3p22	2009-04-17	2009-04-17	2009-04-17	ENSG00000144655	ENSG00000144655			14300	protein-coding gene	gene with protein product		606458	"AXIN1 up-regulated 1"	AXUD1		11526492, 17726538	Standard	NM_033027		Approved	URAX1, DKFZp566F164, FAM130B, TAIP-3	uc003cjg.3	Q96S65	OTTHUMG00000131293	ENST00000273153.5:c.406C>T	3.37:g.39186547G>A	ENSP00000273153:p.Arg136Trp					CSRNP1_ENST00000514182.1_Missense_Mutation_p.R136W	p.R136W	NM_033027.3	NP_149016.2	Q96S65	CSRN1_HUMAN			3	583	-			136					Q69YY5	Missense_Mutation	SNP	ENST00000273153.5	37	c.406C>T	CCDS2682.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.303394	0.81136	.	.	ENSG00000144655	ENST00000273153;ENST00000514182	T;T	0.15603	2.41;2.41	5.14	4.26	0.50523	.	0.000000	0.85682	D	0.000000	T	0.43634	0.1256	M	0.80183	2.485	0.58432	D	0.999999	D	0.89917	1.0	D	0.67231	0.95	T	0.52208	-0.8606	10	0.87932	D	0	-24.0135	15.9105	0.79470	0.0:0.1358:0.8642:0.0	.	136	Q96S65	CSRN1_HUMAN	W	136	ENSP00000273153:R136W;ENSP00000422532:R136W	ENSP00000273153:R136W	R	-	1	2	CSRNP1	39161551	1.000000	0.71417	0.578000	0.28575	0.764000	0.43329	7.828000	0.86729	1.281000	0.44480	0.561000	0.74099	CGG		0.612	CSRNP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254061.1	NM_033027		13	20	0	0	0	1	0	13	20					A	39186547	G	A	39186547	3	1	333	1	0	0	0	0	1	0	0	0	3963	1144	40	1	1375	1	CSRNP1	3	39186547	Missense_Mutation	SNP	G	TCGA-KK-A8I5-01A-11D-A364-08		39186547	158835883	7	16918											
XIRP1	165904	broad.mit.edu	37	chr3	39225934	39225934	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tggagataaatgttggggagGagggagaatctcggctggaa	12	8	18	3	1	1	2	0	0	1	2	2	7	1	5	0	7	0	2	0	7	4	2			TCGA-KK-A8I5-01A-11D-A364-08	TCGA-KK-A8I5-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b87ca7d-24d1-4192-8562-96b302bb907f	f4eca61d-ecdb-483b-bfe1-b1dfd5db648b	g.chr3:39225934G>A	ENST00000340369.3	-	2	5231	c.5003C>T	c.(5002-5004)tCc>tTc	p.S1668F	XIRP1_ENST00000421646.1_Missense_Mutation_p.S351F|XIRP1_ENST00000396251.1_3'UTR	NM_194293.2	NP_919269.2	Q702N8	XIRP1_HUMAN	xin actin-binding repeat containing 1	1668					cardiac muscle cell development (GO:0055013)|negative regulation of cell proliferation (GO:0008285)|regulation of membrane potential (GO:0042391)|sarcomere organization (GO:0045214)	fascia adherens (GO:0005916)	poly(A) RNA binding (GO:0044822)			breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6)	71				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		TGTTGGGGAGGAGGGAGAATC	0.537																																						ENST00000340369.3																			0				breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6)	71						c.(5002-5004)tCc>tTc		xin actin-binding repeat containing 1							83	88	87					3																	39225934		2203	4300	6503	SO:0001583	missense	165904						actin binding	g.chr3:39225934G>A	AW755250	CCDS2683.1, CCDS56245.1	3p21.33	2008-02-05	2007-06-27	2007-06-27	ENSG00000168334	ENSG00000168334			14301	protein-coding gene	gene with protein product		609777	"cardiomyopathy associated 1"	CMYA1		12203715, 15454575	Standard	NM_001198621		Approved	DKFZp451D042, Xin	uc003cjk.2	Q702N8	OTTHUMG00000131297	ENST00000340369.3:c.5003C>T	3.37:g.39225934G>A	ENSP00000343140:p.Ser1668Phe					XIRP1_ENST00000421646.1_Missense_Mutation_p.S351F|XIRP1_ENST00000396251.1_3'UTR	p.S1668F	NM_194293.2	NP_919269.2	Q702N8	XIRP1_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)	2	5231	-			1668					A0JP25|A4QPE2|Q68DF2|Q6ZTR3|Q702N9|Q8IVN7|Q8N1N3|Q8N904|Q8TCG7	Missense_Mutation	SNP	ENST00000340369.3	37	c.5003C>T	CCDS2683.1	.	.	.	.	.	.	.	.	.	.	G	16.85	3.235519	0.58886	.	.	ENSG00000168334	ENST00000340369;ENST00000421646	T;T	0.35789	3.2;1.29	4.75	1.69	0.24217	.	0.309106	0.30869	U	0.008715	T	0.41026	0.1141	L	0.61218	1.895	0.39922	D	0.974177	D	0.55385	0.971	P	0.51487	0.671	T	0.32161	-0.9917	10	0.48119	T	0.1	.	7.8828	0.29631	0.0915:0.329:0.5794:0.0	.	1668	Q702N8	XIRP1_HUMAN	F	1668;351	ENSP00000343140:S1668F;ENSP00000391645:S351F	ENSP00000343140:S1668F	S	-	2	0	XIRP1	39200938	0.638000	0.27225	0.700000	0.30305	0.914000	0.54420	1.813000	0.38962	0.535000	0.28714	0.655000	0.94253	TCC		0.537	XIRP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254065.1	XM_093522		13	61	0	0	0	1	0	13	61					A	39225934	G	A	39225934	3	1	333	1	0	0	0	0	1	0	0	0	17426	1174	41	3	532	3	XIRP1	3	39225934	Missense_Mutation	SNP	G	TCGA-KK-A8I5-01A-11D-A364-08	39387	39225934	158796496	8	16919											
JAKMIP1	152789	broad.mit.edu	37	chr4	6066624	6066624	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tacatcgtccaagtcttcttCgggcgtggctggggtcctgt	4	13	13	11	3	2	0	0	0	2	0	6	0	4	0	2	4	1	1	2	4	2	3			TCGA-KK-A8I5-01A-11D-A364-08	TCGA-KK-A8I5-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b87ca7d-24d1-4192-8562-96b302bb907f	f4eca61d-ecdb-483b-bfe1-b1dfd5db648b	g.chr4:6066624C>T	ENST00000282924.5	-	9	1899	c.1414G>A	c.(1414-1416)Gaa>Aaa	p.E472K	JAKMIP1_ENST00000409371.3_Missense_Mutation_p.E287K|JAKMIP1_ENST00000409021.3_Missense_Mutation_p.E472K|JAKMIP1_ENST00000410077.2_Missense_Mutation_p.E307K|JAKMIP1_ENST00000457227.2_5'UTR|JAKMIP1_ENST00000409831.1_Missense_Mutation_p.E472K	NM_144720.3	NP_653321.1	Q96N16	JKIP1_HUMAN	janus kinase and microtubule interacting protein 1	472	Mediates interaction with TYK2 and GABBR1.				cognition (GO:0050890)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|extrinsic component of membrane (GO:0019898)|microtubule (GO:0005874)|ribonucleoprotein complex (GO:0030529)	GABA receptor binding (GO:0050811)|RNA binding (GO:0003723)			NS(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						AAGTCTTCTTCGGGCGTGGCT	0.532																																						ENST00000409021.3																			0				NS(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						c.(1414-1416)Gaa>Aaa		janus kinase and microtubule interacting protein 1							160	134	143					4																	6066624		2203	4300	6503	SO:0001583	missense	152789				protein transport	cytoplasm|membrane|microtubule|peripheral to membrane of membrane fraction|ribonucleoprotein complex	GABA receptor binding|RNA binding	g.chr4:6066624C>T	AK056126	CCDS3385.1, CCDS47005.1	4p16.1	2013-10-11	2009-08-13		ENSG00000152969	ENSG00000152969			26460	protein-coding gene	gene with protein product		611195				18941173	Standard	NM_144720		Approved	MARLIN1, JAMIP1, Gababrbp, FLJ31564	uc010idb.1	Q96N16	OTTHUMG00000125491	ENST00000282924.5:c.1414G>A	4.37:g.6066624C>T	ENSP00000282924:p.Glu472Lys					JAKMIP1_ENST00000282924.5_Missense_Mutation_p.E472K|JAKMIP1_ENST00000409371.3_Missense_Mutation_p.E287K|JAKMIP1_ENST00000410077.2_Missense_Mutation_p.E307K|JAKMIP1_ENST00000457227.2_5'UTR|JAKMIP1_ENST00000409831.1_Missense_Mutation_p.E472K	p.E472K	NM_001099433.1	NP_001092903.1	Q96N16	JKIP1_HUMAN			9	1863	-			472			Mediates interaction with TYK2 and GABBR1.		A6H2J2|A6H2J3|A6H2J4|A6H2J5|A8MTK6|B4DHZ8|B8ZZR7|D3DVT0|Q86Y69|Q8N7G3	Missense_Mutation	SNP	ENST00000282924.5	37	c.1414G>A	CCDS3385.1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.396387	0.83011	.	.	ENSG00000152969	ENST00000409021;ENST00000409371;ENST00000425341;ENST00000429819;ENST00000282924;ENST00000409831;ENST00000410077	T;T;T;T;T	0.32988	1.85;1.44;1.85;1.85;1.43	4.45	4.45	0.53987	.	0.000000	0.64402	D	0.000002	T	0.46425	0.1392	M	0.62723	1.935	0.54753	D	0.999989	D;D;D;D;D	0.69078	0.987;0.986;0.997;0.997;0.986	P;P;P;P;P	0.56042	0.573;0.555;0.79;0.715;0.63	T	0.46762	-0.9168	10	0.48119	T	0.1	.	16.0347	0.80617	0.0:1.0:0.0:0.0	.	307;472;287;472;472	B4DHZ8;F2Z2K5;Q96N16-5;Q96N16-2;Q96N16	.;.;.;.;JKIP1_HUMAN	K	472;287;472;364;472;472;307	ENSP00000386711:E472K;ENSP00000387042:E287K;ENSP00000282924:E472K;ENSP00000386925:E472K;ENSP00000386745:E307K	ENSP00000282924:E472K	E	-	1	0	JAKMIP1	6117525	1.000000	0.71417	0.851000	0.33527	0.948000	0.59901	7.140000	0.77322	2.202000	0.70862	0.561000	0.74099	GAA		0.532	JAKMIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246816.2	NM_144720		6	41	0	0	0	1	0	6	41					T	6066624	C	T	6066624	3	4	333	1	0	0	0	0	1	0	0	0	7940	893	31	2	1208	2	JAKMIP1	4	6066624	Missense_Mutation	SNP	C	TCGA-KK-A8I5-01A-11D-A364-08		6066624	185087652	9	16920											
PRSS48	345062	broad.mit.edu	37	chr4	152212552	152212552	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtagctgaagctgttgctTgcatacagggctgggaagag	9	10	15	7	0	0	2	0	1	0	1	0	3	0	3	0	2	5	7	0	2	4	4			TCGA-KK-A8I5-01A-11D-A364-08	TCGA-KK-A8I5-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b87ca7d-24d1-4192-8562-96b302bb907f	f4eca61d-ecdb-483b-bfe1-b1dfd5db648b	g.chr4:152212552T>G	ENST00000455694.2	+	5	936	c.934T>G	c.(934-936)Tgc>Ggc	p.C312G	SH3D19_ENST00000604030.1_Intron|PRSS48_ENST00000441586.2_Missense_Mutation_p.C169G	NM_183375.2	NP_899231.2	Q7RTY5	PRS48_HUMAN	protease, serine, 48	312						extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)			kidney(1)|large_intestine(2)|lung(2)|prostate(2)|urinary_tract(1)	8						AGCTGTTGCTTGCATACAGGG	0.498																																						ENST00000455694.2																			0				kidney(1)|large_intestine(2)|lung(2)|prostate(2)|urinary_tract(1)	8						c.(934-936)Tgc>Ggc		protease, serine, 48							97	84	88					4																	152212552		1956	4161	6117	SO:0001583	missense	345062				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr4:152212552T>G	BN000134	CCDS47145.1	4q31.3	2010-05-07			ENSG00000189099	ENSG00000189099		"Serine peptidases / Serine peptidases"	24635	protein-coding gene	gene with protein product						12838346	Standard	NM_183375		Approved	ESSPL	uc011cif.2	Q7RTY5	OTTHUMG00000161673	ENST00000455694.2:c.934T>G	4.37:g.152212552T>G	ENSP00000401328:p.Cys312Gly					PRSS48_ENST00000441586.2_Missense_Mutation_p.C169G|SH3D19_ENST00000604030.1_Intron	p.C312G	NM_183375.2	NP_899231.2	Q7RTY5	PRS48_HUMAN			5	936	+			312					Q08E82|Q0VAD4	Missense_Mutation	SNP	ENST00000455694.2	37	c.934T>G	CCDS47145.1	.	.	.	.	.	.	.	.	.	.	T	5.945	0.358374	0.11239	.	.	ENSG00000189099	ENST00000455694;ENST00000441586	D;D	0.91521	-2.31;-2.86	3.19	-0.307	0.12777	.	.	.	.	.	T	0.77805	0.4185	N	0.14661	0.345	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.62320	-0.6879	9	0.30078	T	0.28	.	3.1976	0.06639	0.0:0.4566:0.2523:0.2911	.	169;312	Q7RTY5-3;Q7RTY5	.;PRS48_HUMAN	G	312;169	ENSP00000401328:C312G;ENSP00000401420:C169G	ENSP00000401420:C169G	C	+	1	0	PRSS48	152432002	0.000000	0.05858	0.000000	0.03702	0.016000	0.09150	-0.201000	0.09464	-0.053000	0.13289	0.260000	0.18958	TGC		0.498	PRSS48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365685.3	NM_183375		13	23	0	0	0	1	0	13	23					G	152212552	T	G	152212552	3	3	333	1	0	0	0	0	1	0	0	0	12630	1812	63	5	952	5	PRSS48	4	152212552	Missense_Mutation	SNP	T	TCGA-KK-A8I5-01A-11D-A364-08	146145928	152212552	38941724	10	16921											
FGB	2244	broad.mit.edu	37	chr4	155490677	155490677	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcttttaggtgaatattggCttggaaatgataaaattagc	13	16	9	3	0	1	2	0	2	1	0	1	3	1	3	0	3	1	1	0	3	7	8			TCGA-KK-A8I5-01A-11D-A364-08	TCGA-KK-A8I5-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b87ca7d-24d1-4192-8562-96b302bb907f	f4eca61d-ecdb-483b-bfe1-b1dfd5db648b	g.chr4:155490677C>A	ENST00000302068.4	+	7	1033	c.970C>A	c.(970-972)Ctt>Att	p.L324I	FGB_ENST00000502545.1_Intron|FGB_ENST00000509493.1_Missense_Mutation_p.L105I	NM_005141.4	NP_005132.2	P02675	FIBB_HUMAN	fibrinogen beta chain	324	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|cellular protein complex assembly (GO:0043623)|cellular response to interleukin-1 (GO:0071347)|cellular response to leptin stimulus (GO:0044320)|extracellular matrix organization (GO:0030198)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of exocytosis (GO:0045921)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of peptide hormone secretion (GO:0090277)|positive regulation of protein secretion (GO:0050714)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive regulation of vasoconstriction (GO:0045907)|protein polymerization (GO:0051258)|response to calcium ion (GO:0051592)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|cell cortex (GO:0005938)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|plasma membrane (GO:0005886)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|vesicle (GO:0031982)	chaperone binding (GO:0051087)|structural molecule activity (GO:0005198)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(2)|lung(22)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34	all_hematologic(180;0.215)	Renal(120;0.0458)			Sucralfate(DB00364)	TGAATATTGGCTTGGAAATGA	0.358																																					NSCLC(106;1133 1613 21870 46110 52656)	ENST00000302068.4																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(2)|lung(22)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						c.(970-972)Ctt>Att		fibrinogen beta chain	Sucralfate(DB00364)						56	59	58					4																	155490677		2197	4298	6495	SO:0001583	missense	2244				platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen|soluble fraction	chaperone binding|eukaryotic cell surface binding|protein binding, bridging|receptor binding	g.chr4:155490677C>A		CCDS3786.1	4q28	2014-09-17			ENSG00000171564	ENSG00000171564		"Fibrinogen C domain containing", "Endogenous ligands"	3662	protein-coding gene	gene with protein product		134830	"fibrinogen, B beta polypeptide"				Standard	NM_005141		Approved		uc003ioa.4	P02675	OTTHUMG00000150331	ENST00000302068.4:c.970C>A	4.37:g.155490677C>A	ENSP00000306099:p.Leu324Ile					FGB_ENST00000509493.1_Missense_Mutation_p.L105I|FGB_ENST00000502545.1_Intron	p.L324I	NM_005141.4	NP_005132.2	P02675	FIBB_HUMAN			7	1033	+	all_hematologic(180;0.215)	Renal(120;0.0458)	324			Fibrinogen C-terminal.		A0JLR9|B2R7G3|Q32Q65|Q3KPF2	Missense_Mutation	SNP	ENST00000302068.4	37	c.970C>A	CCDS3786.1	.	.	.	.	.	.	.	.	.	.	C	28.5	4.922392	0.92319	.	.	ENSG00000171564	ENST00000302068;ENST00000537843;ENST00000509493	D;D	0.88664	-2.41;-2.41	5.53	5.53	0.82687	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (4);Fibrinogen, alpha/beta/gamma chain, C-terminal globular, subdomain 1 (1);	0.000000	0.85682	D	0.000000	D	0.94135	0.8119	M	0.67517	2.055	0.80722	D	1	D;D	0.71674	0.998;0.971	D;D	0.91635	0.999;0.984	D	0.94180	0.7431	10	0.87932	D	0	.	19.8195	0.96586	0.0:1.0:0.0:0.0	.	307;324	B4E1D3;P02675	.;FIBB_HUMAN	I	324;307;105	ENSP00000306099:L324I;ENSP00000426757:L105I	ENSP00000306099:L324I	L	+	1	0	FGB	155710127	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.604000	0.82830	2.756000	0.94617	0.655000	0.94253	CTT		0.358	FGB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317595.1	NM_005141		9	50	1	0	2.17888e-05	1	2.21923e-05	9	50					A	155490677	C	A	155490677	3	1	333	1	0	0	0	0	1	0	0	0	5831	797	28	5	996	5	FGB	4	155490677	Missense_Mutation	SNP	C	TCGA-KK-A8I5-01A-11D-A364-08	3278125	155490677	35663599	11	16922											
GRIA2	2891	broad.mit.edu	37	chr4	158224787	158224787	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ataccatcacatcattttgcGgaacactccacgtctccttc	10	12	4	15	2	3	0	2	0	1	0	6	1	4	1	3	1	3	0	3	1	2	4			TCGA-KK-A8I5-01A-11D-A364-08	TCGA-KK-A8I5-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b87ca7d-24d1-4192-8562-96b302bb907f	f4eca61d-ecdb-483b-bfe1-b1dfd5db648b	g.chr4:158224787G>A	ENST00000264426.9	+	3	592	c.313G>A	c.(313-315)Gga>Aga	p.G105R	GRIA2_ENST00000393815.2_Missense_Mutation_p.G58R|GRIA2_ENST00000449365.1_Missense_Mutation_p.G58R|GRIA2_ENST00000507898.1_Missense_Mutation_p.G58R|GRIA2_ENST00000296526.7_Missense_Mutation_p.G105R|GRIA2_ENST00000504801.1_3'UTR	NM_001083619.1	NP_001077088	P42262	GRIA2_HUMAN	glutamate receptor, ionotropic, AMPA 2	105					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)|ionotropic glutamate receptor activity (GO:0004970)	p.G105*(2)		NS(1)|breast(2)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(2)|lung(32)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	79	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0294)	Amobarbital(DB01351)|Aprobarbital(DB01352)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Methylphenobarbital(DB00849)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Primidone(DB00794)|Quinidine barbiturate(DB01346)|Secobarbital(DB00418)|Talbutal(DB00306)|Thiopental(DB00599)	ATCATTTTGCGGAACACTCCA	0.438																																						ENST00000296526.7																			2	Substitution - Nonsense(2)	p.G105*(2)	lung(2)	NS(1)|breast(2)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(2)|lung(32)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	79						c.(313-315)Gga>Aga		glutamate receptor, ionotropic, AMPA 2	L-Glutamic Acid(DB00142)						182	169	174					4																	158224787		2203	4300	6503	SO:0001583	missense	2891				synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|endoplasmic reticulum membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity	g.chr4:158224787G>A		CCDS3797.1, CCDS43274.1, CCDS43275.1	4q32.1	2012-08-29			ENSG00000120251	ENSG00000120251		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4572	protein-coding gene	gene with protein product		138247		GLUR2		1311100	Standard	NM_001083619		Approved	GluA2, GLURB	uc003ipl.4	P42262	OTTHUMG00000133836	ENST00000264426.9:c.313G>A	4.37:g.158224787G>A	ENSP00000264426:p.Gly105Arg					GRIA2_ENST00000507898.1_Missense_Mutation_p.G58R|GRIA2_ENST00000449365.1_Missense_Mutation_p.G58R|GRIA2_ENST00000264426.9_Missense_Mutation_p.G105R|GRIA2_ENST00000393815.2_Missense_Mutation_p.G58R|GRIA2_ENST00000504801.1_3'UTR	p.G105R	NM_000826.3	NP_000817.2	P42262	GRIA2_HUMAN		COAD - Colon adenocarcinoma(41;0.0294)	3	638	+	all_hematologic(180;0.24)	Renal(120;0.0458)	105					A8MT92|I6L997|Q96FP6	Missense_Mutation	SNP	ENST00000264426.9	37	c.313G>A	CCDS43274.1	.	.	.	.	.	.	.	.	.	.	G	33	5.238361	0.95240	.	.	ENSG00000120251	ENST00000507898;ENST00000393815;ENST00000509417;ENST00000296526;ENST00000264426;ENST00000505888;ENST00000449365	D;D;D;D;D;D;D	0.83075	-1.68;-1.68;-1.68;-1.68;-1.68;-1.68;-1.68	5.8	5.8	0.92144	Extracellular ligand-binding receptor (1);	0.049698	0.85682	D	0.000000	D	0.90079	0.6901	L	0.58101	1.795	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.74674	0.984;0.928;0.91	D	0.90085	0.4173	10	0.72032	D	0.01	.	20.0536	0.97638	0.0:0.0:1.0:0.0	.	105;105;58	P42262;P42262-2;A8MT92	GRIA2_HUMAN;.;.	R	58;58;105;105;105;58;58	ENSP00000426845:G58R;ENSP00000377403:G58R;ENSP00000425217:G105R;ENSP00000296526:G105R;ENSP00000264426:G105R;ENSP00000422038:G58R;ENSP00000389837:G58R	ENSP00000264426:G105R	G	+	1	0	GRIA2	158444237	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	9.823000	0.99369	2.737000	0.93849	0.650000	0.86243	GGA		0.438	GRIA2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000258367.2			11	61	0	0	0	1	0	11	61					A	158224787	G	A	158224787	3	1	333	1	0	0	0	0	1	0	0	0	6768	1117	39	2	323	2	GRIA2	4	158224787	Missense_Mutation	SNP	G	TCGA-KK-A8I5-01A-11D-A364-08	2734110	158224787	32929489	12	16923											
PCDHGA1	56114	broad.mit.edu	37	chr5	140712441	140712441	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgctacaggcttcgggaggCggcttagcgagcatgcccgg	6	7	16	12	4	0	0	0	0	0	0	1	2	0	1	1	5	5	4	1	5	2	3			TCGA-KK-A8I5-01A-11D-A364-08	TCGA-KK-A8I5-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b87ca7d-24d1-4192-8562-96b302bb907f	f4eca61d-ecdb-483b-bfe1-b1dfd5db648b	g.chr5:140712441C>T	ENST00000517417.1	+	1	2190	c.2190C>T	c.(2188-2190)ggC>ggT	p.G730G	PCDHGA1_ENST00000378105.3_Silent_p.G730G	NM_018912.2	NP_061735.1	Q9Y5H4	PCDG1_HUMAN	protocadherin gamma subfamily A, 1	730					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.G730G(4)		breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|lung(32)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTTCGGGAGGCGGCTTAGCGA	0.662																																						ENST00000517417.1																			4	Substitution - coding silent(4)	p.G730G(4)	large_intestine(2)|endometrium(2)	breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|lung(32)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	78						c.(2188-2190)ggC>ggT									65	70	68					5																	140712441		2203	4300	6503	SO:0001819	synonymous_variant	0							g.chr5:140712441C>T	AF152318	CCDS54922.1	5q31	2010-01-26				ENSG00000204956		"Cadherins / Protocadherins : Clustered"	8696	other	protocadherin		606288				10380929	Standard	NM_018912		Approved	PCDH-GAMMA-A1		Q9Y5H4		ENST00000517417.1:c.2190C>T	5.37:g.140712441C>T						PCDHGA1_ENST00000378105.3_Silent_p.G730G	p.G730G	NM_018912.2	NP_061735.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2190	+								Q2M273|Q9Y5D6	Silent	SNP	ENST00000517417.1	37	c.2190C>T	CCDS54922.1																																																																																				0.662	PCDHGA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000374737.1	NM_018912		13	75	0	0	0	1	0	13	75					T	140712441	C	T	140712441	2	4	333	1	0	0	0	0	0	0	0	1	11550	755	27	1		1	PCDHGA1	5	140712441	Silent	SNP	C	TCGA-KK-A8I5-01A-11D-A364-08		140712441	40202819	13	16924											
TCERG1	10915	broad.mit.edu	37	chr5	145890149	145890149	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atgttgatgacctggatcgcCggggtccacccccacctccc	6	8	10	17	2	0	2	0	2	0	0	3	3	2	3	7	3	0	1	7	3	0	1			TCGA-KK-A8I5-01A-11D-A364-08	TCGA-KK-A8I5-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b87ca7d-24d1-4192-8562-96b302bb907f	f4eca61d-ecdb-483b-bfe1-b1dfd5db648b	g.chr5:145890149C>G	ENST00000296702.5	+	22	3279	c.3241C>G	c.(3241-3243)Cgg>Ggg	p.R1081G	TCERG1_ENST00000394421.2_Missense_Mutation_p.R1060G	NM_006706.3	NP_006697.2	O14776	TCRG1_HUMAN	transcription elongation regulator 1	1081					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA polymerase II repressing transcription factor binding (GO:0001103)|RNA polymerase II transcription corepressor activity (GO:0001106)|transcription coactivator activity (GO:0003713)			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(18)|lung(9)|ovary(2)|prostate(3)|skin(1)	46		Lung NSC(249;0.00188)|all_lung(500;0.00307)|all_neural(839;0.0424)|Breast(839;0.0743)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CCTGGATCGCCGGGGTCCACC	0.463																																						ENST00000296702.5																			0				breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(18)|lung(9)|ovary(2)|prostate(3)|skin(1)	46						c.(3241-3243)Cgg>Ggg		transcription elongation regulator 1							94	89	91					5																	145890149		2203	4300	6503	SO:0001583	missense	10915				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	protein binding|transcription coactivator activity	g.chr5:145890149C>G	AF017789	CCDS4282.1, CCDS43379.1	5q31	2010-01-25	2002-01-24	2002-01-25	ENSG00000113649	ENSG00000113649			15630	protein-coding gene	gene with protein product	"transcription factor CA150", "co-activator of 150 kDa", "TATA box binding protein (TBP)-associated factor, RNA polymerase II, S, 150kD", "TATA box-binding protein-associated factor 2S"	605409	"TATA box binding protein (TBP)-associated factor, RNA polymerase II, S, 150kD"	TAF2S		9315662, 11003711	Standard	XM_005268365		Approved	CA150, Urn1	uc003lob.3	O14776	OTTHUMG00000129683	ENST00000296702.5:c.3241C>G	5.37:g.145890149C>G	ENSP00000296702:p.Arg1081Gly					TCERG1_ENST00000394421.2_Missense_Mutation_p.R1060G	p.R1081G	NM_006706.3	NP_006697.2	O14776	TCRG1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		22	3279	+		Lung NSC(249;0.00188)|all_lung(500;0.00307)|all_neural(839;0.0424)|Breast(839;0.0743)	1081					Q2NKN2|Q59EA1	Missense_Mutation	SNP	ENST00000296702.5	37	c.3241C>G	CCDS4282.1	.	.	.	.	.	.	.	.	.	.	C	14.81	2.645777	0.47258	.	.	ENSG00000113649	ENST00000296702;ENST00000394421	T;T	0.27720	1.65;1.67	6.16	3.33	0.38152	.	0.050472	0.85682	N	0.000000	T	0.52773	0.1755	M	0.73962	2.25	0.80722	D	1	D;D	0.64830	0.994;0.993	D;D	0.74023	0.976;0.982	T	0.53272	-0.8462	10	0.72032	D	0.01	-14.8187	11.6584	0.51332	0.3563:0.5291:0.1146:0.0	.	1060;1081	O14776-2;O14776	.;TCRG1_HUMAN	G	1081;1060	ENSP00000296702:R1081G;ENSP00000377943:R1060G	ENSP00000296702:R1081G	R	+	1	2	TCERG1	145870342	0.994000	0.37717	1.000000	0.80357	0.953000	0.61014	1.887000	0.39698	0.419000	0.25927	-0.188000	0.12872	CGG		0.463	TCERG1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251886.1	NM_001040006		6	30	0	0	0	1	0	6	30					G	145890149	C	G	145890149	3	3	333	1	0	0	0	0	1	0	0	0	15682	643	23	5	3327	5	TCERG1	5	145890149	Missense_Mutation	SNP	C	TCGA-KK-A8I5-01A-11D-A364-08	5177708	145890149	35025111	14	16925											
USP42	84132	broad.mit.edu	37	chr7	6187373	6187373	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gctctccttgtttccaggtcCcatgatgtgaaaaatggagg	9	12	11	9	0	1	2	0	2	1	0	4	3	3	3	3	3	0	2	3	3	2	2			TCGA-KK-A8I5-01A-11D-A364-08	TCGA-KK-A8I5-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b87ca7d-24d1-4192-8562-96b302bb907f	f4eca61d-ecdb-483b-bfe1-b1dfd5db648b	g.chr7:6187373C>T	ENST00000306177.5	+	12	1394	c.1236C>T	c.(1234-1236)tcC>tcT	p.S412S		NM_032172.2	NP_115548.1	Q9H9J4	UBP42_HUMAN	ubiquitin specific peptidase 42	412	USP.				cell differentiation (GO:0030154)|protein deubiquitination (GO:0016579)|spermatogenesis (GO:0007283)|ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitin-specific protease activity (GO:0004843)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(2)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	35		Ovarian(82;0.0423)		UCEC - Uterine corpus endometrioid carcinoma (126;0.108)|OV - Ovarian serous cystadenocarcinoma(56;5.77e-14)		TTTCCAGGTCCCATGATGTGA	0.517																																						ENST00000306177.5																			0				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(2)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	35						c.(1234-1236)tcC>tcT		ubiquitin specific peptidase 42							78	79	79					7																	6187373		1965	4130	6095	SO:0001819	synonymous_variant	84132				cell differentiation|protein deubiquitination|spermatogenesis|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr7:6187373C>T	AK022759	CCDS47535.1	7p22.2	2005-08-08	2005-08-08		ENSG00000106346	ENSG00000106346		"Ubiquitin-specific peptidases"	20068	protein-coding gene	gene with protein product			"ubiquitin specific protease 42"			12838346	Standard	NM_032172		Approved	FLJ12697	uc011jwp.2	Q9H9J4	OTTHUMG00000151888	ENST00000306177.5:c.1236C>T	7.37:g.6187373C>T							p.S412S	NM_032172.2	NP_115548.1	Q9H9J4	UBP42_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.108)|OV - Ovarian serous cystadenocarcinoma(56;5.77e-14)	12	1394	+		Ovarian(82;0.0423)	412					A2RUE3|B5MDA5|Q0VIN8|Q3C166|Q6P9B4	Silent	SNP	ENST00000306177.5	37	c.1236C>T	CCDS47535.1																																																																																				0.517	USP42-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324262.3	XM_166526		6	26	0	0	0	1	0	6	26					T	6187373	C	T	6187373	2	4	333	1	0	0	0	0	0	0	0	1	17070	610	22	3		3	USP42	7	6187373	Silent	SNP	C	TCGA-KK-A8I5-01A-11D-A364-08		6187373	152951290	15	16926											
ZAN	7455	broad.mit.edu	37	chr7	100371059	100371059	+	RNA	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggccacatcttgagtggaacCtcctgcgtgccccttggcca	6	9	11	15	1	1	1	0	1	1	0	2	2	2	2	6	3	3	0	6	3	1	2			TCGA-KK-A8I5-01A-11D-A364-08	TCGA-KK-A8I5-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b87ca7d-24d1-4192-8562-96b302bb907f	f4eca61d-ecdb-483b-bfe1-b1dfd5db648b	g.chr7:100371059C>A	ENST00000348028.3	+	0	5742				ZAN_ENST00000546213.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000542585.1_RNA|ZAN_ENST00000546292.1_RNA			Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida (GO:0007339)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			TGAGTGGAACCTCCTGCGTGC	0.632																																						ENST00000542585.1																			0				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139								zonadhesin (gene/pseudogene)							53	58	56					7																	100371059		2019	4186	6205			7455				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane		g.chr7:100371059C>A	U83191		7q22.1	2013-10-10	2013-10-10		ENSG00000146839	ENSG00000146839			12857	protein-coding gene	gene with protein product		602372	"zonadhesin"			9799793, 17033959	Standard	NM_003386		Approved		uc003uwk.3	Q9Y493	OTTHUMG00000157037		7.37:g.100371059C>A						ZAN_ENST00000546213.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000427578.1_RNA		NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	STAD - Stomach adenocarcinoma(171;0.19)		0	5725	+	Lung NSC(181;0.041)|all_lung(186;0.0581)							A0FKC8|D6W5W4|O00218|Q96L85|Q96L86|Q96L87|Q96L88|Q96L89|Q96L90|Q9BXN9|Q9BZ83|Q9BZ84|Q9BZ85|Q9BZ86|Q9BZ87|Q9BZ88	RNA	SNP	ENST00000348028.3	37																																																																																						0.632	ZAN-006	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000347214.1	NM_003386		13	16	1	0	2.27111e-07	1	2.44924e-07	13	16					A	100371059	C	A	100371059	1	1	333	0	1	0	0	0	0	0	0	0	17510	668	24	5		5	ZAN	7	100371059	RNA	SNP	C	TCGA-KK-A8I5-01A-11D-A364-08	94183686	100371059	58767604	16	16927											
GRM8	2918	broad.mit.edu	37	chr7	126746596	126746596	+	Nonsense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctccacaccgctctcaccAtagttcccctcagaagccag	9	7	6	19	1	2	1	2	0	1	1	5	1	4	1	7	0	1	2	7	0	2	2			TCGA-KK-A8I5-01A-11D-A364-08	TCGA-KK-A8I5-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b87ca7d-24d1-4192-8562-96b302bb907f	f4eca61d-ecdb-483b-bfe1-b1dfd5db648b	g.chr7:126746596A>T	ENST00000339582.2	-	3	1489	c.681T>A	c.(679-681)taT>taA	p.Y227*	GRM8_ENST00000480995.1_5'UTR|GRM8_ENST00000444921.2_Nonsense_Mutation_p.Y227*|GRM8_ENST00000405249.1_Nonsense_Mutation_p.Y227*|GRM8_ENST00000358373.3_Nonsense_Mutation_p.Y227*			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	227					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|negative regulation of cAMP biosynthetic process (GO:0030818)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of smell (GO:0007608)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)				CGCTCTCACCATAGTTCCCCT	0.507										HNSCC(24;0.065)																												ENST00000339582.2																			0				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125						c.(679-681)taT>taA		glutamate receptor, metabotropic 8	L-Glutamic Acid(DB00142)						125	105	111					7																	126746596		2203	4300	6503	SO:0001587	stop_gained	0				negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane		g.chr7:126746596A>T		CCDS5794.1, CCDS47696.1	7q31.3-q32.1	2012-08-29			ENSG00000179603	ENSG00000179603		"GPCR / Class C : Glutamate receptors, metabotropic", "Glutamate receptors"	4600	protein-coding gene	gene with protein product		601116				8824806	Standard	NM_000845		Approved	GLUR8, GPRC1H, mGlu8, MGLUR8	uc003vlr.2	O00222	OTTHUMG00000022888	ENST00000339582.2:c.681T>A	7.37:g.126746596A>T	ENSP00000344173:p.Tyr227*	HNSCC(24;0.065)				GRM8_ENST00000405249.1_Nonsense_Mutation_p.Y227*|GRM8_ENST00000358373.3_Nonsense_Mutation_p.Y227*|GRM8_ENST00000480995.1_5'UTR|GRM8_ENST00000444921.2_Nonsense_Mutation_p.Y227*	p.Y227*			O00222	GRM8_HUMAN			3	1489	-		Prostate(267;0.186)	227					A4D0Y3|B0FZ74|B0M0L0|O15493|O95945|O95946|Q3MIV9|Q52M02|Q6J165	Nonsense_Mutation	SNP	ENST00000339582.2	37	c.681T>A	CCDS5794.1	.	.	.	.	.	.	.	.	.	.	A	35	5.459733	0.96240	.	.	ENSG00000179603	ENST00000339582;ENST00000444921;ENST00000358373;ENST00000405249;ENST00000457830;ENST00000465844	.	.	.	4.97	-2.7	0.06004	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.5395	0.56161	0.5145:0.0:0.4855:0.0	.	.	.	.	X	227;227;227;227;227;37	.	ENSP00000344173:Y227X	Y	-	3	2	GRM8	126533832	0.879000	0.30193	0.995000	0.50966	0.937000	0.57800	0.053000	0.14184	-0.334000	0.08463	-0.371000	0.07208	TAT		0.507	GRM8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059209.4			12	26	0	0	0	1	0	12	26					T	126746596	A	T	126746596	4	4	333	1	0	0	0	0	0	1	0	0	6803	224	8	5	2131	5	GRM8	7	126746596	Nonsense_Mutation	SNP	A	TCGA-KK-A8I5-01A-11D-A364-08	26375537	126746596	32392067	17	16928											
PIWIL2	55124	broad.mit.edu	37	chr8	22137065	22137065	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	atgtatttggaaagccagagGaaccaagcacacagaggggg	15	5	14	7	0	0	2	0	0	0	2	0	4	0	4	2	4	3	2	2	4	4	2			TCGA-KK-A8I5-01A-11D-A364-08	TCGA-KK-A8I5-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b87ca7d-24d1-4192-8562-96b302bb907f	f4eca61d-ecdb-483b-bfe1-b1dfd5db648b	g.chr8:22137065G>A	ENST00000454009.2	+	2	675	c.166G>A	c.(166-168)Gaa>Aaa	p.E56K	PIWIL2_ENST00000356766.6_Missense_Mutation_p.E56K|PIWIL2_ENST00000521356.1_Missense_Mutation_p.E56K	NM_001135721.1	NP_001129193.1	Q8TC59	PIWL2_HUMAN	piwi-like RNA-mediated gene silencing 2	56					DNA methylation involved in gamete generation (GO:0043046)|gene silencing by RNA (GO:0031047)|germ-line stem cell maintenance (GO:0030718)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|oogenesis (GO:0048477)|piRNA metabolic process (GO:0034587)|positive regulation of meiosis I (GO:0060903)|positive regulation of translation (GO:0045727)|RNA 5'-end processing (GO:0000966)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|P granule (GO:0043186)|pi-body (GO:0071546)|polysome (GO:0005844)	mRNA binding (GO:0003729)|piRNA binding (GO:0034584)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(14)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	46				Colorectal(74;0.018)|COAD - Colon adenocarcinoma(73;0.0707)		AAAGCCAGAGGAACCAAGCAC	0.562																																						ENST00000356766.6																			0				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(14)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	46						c.(166-168)Gaa>Aaa		piwi-like RNA-mediated gene silencing 2							87	89	88					8																	22137065		2203	4300	6503	SO:0001583	missense	55124				DNA methylation involved in gamete generation|gene silencing by RNA|germ-line stem cell maintenance|multicellular organismal development|oogenesis|piRNA metabolic process|positive regulation of translation|RNA 5'-end processing|spermatogenesis	chromatoid body|pi-body	piRNA binding	g.chr8:22137065G>A	AK001213	CCDS6029.1	8p24	2013-02-15	2013-02-15		ENSG00000197181	ENSG00000197181		"Argonaute/PIWI family"	17644	protein-coding gene	gene with protein product	"Hiwi-like", "cancer/testis antigen 80"	610312	"piwi-like 2 (Drosophila)"			11279525, 12906857	Standard	NM_018068		Approved	HILI, FLJ10351, Mili, CT80	uc003xbn.2	Q8TC59	OTTHUMG00000097767	ENST00000454009.2:c.166G>A	8.37:g.22137065G>A	ENSP00000406956:p.Glu56Lys					PIWIL2_ENST00000454009.2_Missense_Mutation_p.E56K|PIWIL2_ENST00000521356.1_Missense_Mutation_p.E56K	p.E56K	NM_018068.3	NP_060538.2	Q8TC59	PIWL2_HUMAN		Colorectal(74;0.018)|COAD - Colon adenocarcinoma(73;0.0707)	2	314	+			56					A8K4S3|A8K8S5|B0AZN9|B0AZP2|B4DR22|E7ECA4|Q96SW6|Q9NW28	Missense_Mutation	SNP	ENST00000454009.2	37	c.166G>A	CCDS6029.1	.	.	.	.	.	.	.	.	.	.	G	8.353	0.831388	0.16820	.	.	ENSG00000197181	ENST00000356766;ENST00000521356;ENST00000454009	T;T;T	0.04758	3.57;3.56;3.57	5.93	4.13	0.48395	.	0.528567	0.18835	N	0.129843	T	0.04227	0.0117	L	0.27053	0.805	0.09310	N	1	B;B	0.20261	0.043;0.043	B;B	0.16722	0.016;0.016	T	0.36529	-0.9744	10	0.54805	T	0.06	-27.6997	8.152	0.31145	0.0835:0.1585:0.758:0.0	.	56;56	E7ECA4;Q8TC59	.;PIWL2_HUMAN	K	56	ENSP00000349208:E56K;ENSP00000428267:E56K;ENSP00000406956:E56K	ENSP00000349208:E56K	E	+	1	0	PIWIL2	22193010	0.966000	0.33281	0.023000	0.16930	0.602000	0.36980	2.969000	0.49232	0.820000	0.34516	0.655000	0.94253	GAA		0.562	PIWIL2-003	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000375438.1			11	21	0	0	0	1	0	11	21					A	22137065	G	A	22137065	3	1	333	1	0	0	0	0	1	0	0	0	11958	1175	41	3	168	3	PIWIL2	8	22137065	Missense_Mutation	SNP	G	TCGA-KK-A8I5-01A-11D-A364-08		22137065	124226957	18	16929											
NUP214	8021	broad.mit.edu	37	chr9	134077101	134077101	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	actggtggaatagtctttggCcaggtaaatatgcatttgtc	10	14	11	6	0	1	0	0	0	1	0	2	1	1	1	1	4	1	2	1	4	5	5			TCGA-KK-A8I5-01A-11D-A364-08	TCGA-KK-A8I5-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b87ca7d-24d1-4192-8562-96b302bb907f	f4eca61d-ecdb-483b-bfe1-b1dfd5db648b	g.chr9:134077101C>T	ENST00000359428.5	+	30	5733	c.5589C>T	c.(5587-5589)ggC>ggT	p.G1863G	NUP214_ENST00000411637.2_Silent_p.G1853G|NUP214_ENST00000483497.2_Silent_p.G689G|NUP214_ENST00000451030.1_Silent_p.G1864G			P35658	NU214_HUMAN	nucleoporin 214kDa	1863	11 X 3 AA approximate repeats.|11 X 5 AA approximate repeats.|18 X 4 AA approximate repeats.|Pro/Ser/Thr-rich.				carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|gene expression (GO:0010467)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|protein export from nucleus (GO:0006611)|protein import into nucleus (GO:0006606)|regulation of cell cycle (GO:0051726)|regulation of glucose transport (GO:0010827)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|focal adhesion (GO:0005925)|intracellular membrane-bounded organelle (GO:0043231)|nuclear pore (GO:0005643)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleocytoplasmic transporter activity (GO:0005487)|transporter activity (GO:0005215)			NS(1)|breast(9)|central_nervous_system(3)|endometrium(13)|kidney(2)|large_intestine(9)|liver(2)|lung(29)|ovary(2)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	86	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256)		TAGTCTTTGGCCAGGTAAATA	0.358			T	"DEK, SET, ABL1"	"AML, T-ALL"																																Pancreas(4;24 48 25510 30394 32571)	ENST00000359428.5				Dom	yes		9	9q34.1	8021	T	nucleoporin 214kDa (CAN)			L	"DEK, SET, ABL1"		"AML, T-ALL"		0				NS(1)|breast(9)|central_nervous_system(3)|endometrium(13)|kidney(2)|large_intestine(9)|liver(2)|lung(29)|ovary(2)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	86						c.(5587-5589)ggC>ggT		nucleoporin 214kDa							182	160	168					9																	134077101		2203	4300	6503	SO:0001819	synonymous_variant	8021				carbohydrate metabolic process|glucose transport|mRNA metabolic process|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore|nucleoplasm	protein binding	g.chr9:134077101C>T	X64228	CCDS6940.1	9q34	2008-07-21	2002-08-29		ENSG00000126883	ENSG00000126883			8064	protein-coding gene	gene with protein product	"nuclear pore complex protein Nup214", "CAN protein, putative oncogene"	114350	"nucleoporin 214kD (CAIN)"			8108440, 2370860	Standard	NM_005085		Approved	CAIN, CAN, D9S46E, N214	uc004cag.3	P35658	OTTHUMG00000020816	ENST00000359428.5:c.5589C>T	9.37:g.134077101C>T						NUP214_ENST00000483497.2_Silent_p.G689G|NUP214_ENST00000451030.1_Silent_p.G1864G|NUP214_ENST00000411637.2_Silent_p.G1853G	p.G1863G			P35658	NU214_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256)	30	5733	+	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)	1863			11 X 3 AA approximate repeats.|11 X 5 AA approximate repeats.|18 X 4 AA approximate repeats.|Pro/Ser/Thr-rich.		A6NFQ0|Q15010|Q3KQZ0|Q5JUP7|Q75R47|Q86XD3	Silent	SNP	ENST00000359428.5	37	c.5589C>T	CCDS6940.1																																																																																				0.358	NUP214-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000054694.2	NM_005085		5	74	0	0	0	1	0	5	74					T	134077101	C	T	134077101	2	4	333	1	0	0	0	0	0	0	0	1	10762	726	26	3		3	NUP214	9	134077101	Silent	SNP	C	TCGA-KK-A8I5-01A-11D-A364-08		134077101	7136330	19	16930											
MYOF	26509	broad.mit.edu	37	chr10	95072931	95072931	+	Frame_Shift_Del	DEL	G	G	-																															atttctctggtgattttgcaGgaatgatcgtgtgacgcaag																										TCGA-KK-A8I5-01A-11D-A364-08	TCGA-KK-A8I5-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b87ca7d-24d1-4192-8562-96b302bb907f	f4eca61d-ecdb-483b-bfe1-b1dfd5db648b	g.chr10:95072931delG	ENST00000359263.4	-	51	5734	c.5735delC	c.(5734-5736)cctfs	p.P1912fs	MYOF_ENST00000371501.4_Frame_Shift_Del_p.P1912fs|MYOF_ENST00000358334.5_Frame_Shift_Del_p.P1899fs|MYOF_ENST00000371502.4_Frame_Shift_Del_p.P1902fs	NM_013451.3	NP_038479.1	Q9NZM1	MYOF_HUMAN	myoferlin	1912					blood circulation (GO:0008015)|cellular response to heat (GO:0034605)|muscle contraction (GO:0006936)|plasma membrane repair (GO:0001778)|regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030947)	caveola (GO:0005901)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)	phospholipid binding (GO:0005543)			NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						TGATTTTGCAGGAATGATCGT	0.468																																						ENST00000371501.4																			0				NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						c.(5734-5736)ctfs		myoferlin							182	177	178					10																	95072931		1977	4167	6144	SO:0001589	frameshift_variant	26509				blood circulation|muscle contraction|plasma membrane repair	caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane	phospholipid binding|protein binding	g.chr10:95072931delG	AB033033	CCDS41550.1, CCDS41551.1	10q24	2014-06-27	2008-11-26	2008-11-26	ENSG00000138119	ENSG00000138119			3656	protein-coding gene	gene with protein product	"fer-1-like family member 3"	604603	"fer-1 (C.elegans)-like 3 (myoferlin)", "fer-1-like 3, myoferlin (C. elegans)"	FER1L3		10607832, 10995573, 17702744	Standard	NM_013451		Approved	KIAA1207	uc001kin.3	Q9NZM1	OTTHUMG00000018772	ENST00000359263.4:c.5735delC	10.37:g.95072931delG	ENSP00000352208:p.Pro1912fs					MYOF_ENST00000371502.4_Frame_Shift_Del_p.P1902fs|MYOF_ENST00000358334.5_Frame_Shift_Del_p.P1899fs|MYOF_ENST00000359263.4_Frame_Shift_Del_p.P1912fs	p.P1912fs			Q9NZM1	MYOF_HUMAN			51	5857	-			1912					B3KQN5|Q5VWW2|Q5VWW3|Q5VWW4|Q5VWW5|Q7Z642|Q8IWH0|Q9HBU3|Q9NZM0|Q9ULL3|Q9Y4U4	Frame_Shift_Del	DEL	ENST00000359263.4	37	c.5735delC	CCDS41551.1																																																																																				0.468	MYOF-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000049423.2	NM_013451		71	63						71	63	---	---	---	---	-	95072931	G	-	95072931	7	5	333	1	0	1	0	1	0	0	0	0	10089	1000	35	0	466	0	MYOF	10	95072931	Frame_Shift_Del	DEL	G	TCGA-KK-A8I5-01A-11D-A364-08		95072931	40461816	20	16931											
MYBPC3	4607	broad.mit.edu	37	chr11	47360181	47360181	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cctcgaccgtgaagatgctgCggtccttggtggtctccacg	5	10	13	13	4	1	2	0	1	1	1	4	3	2	2	4	3	2	1	4	3	1	1	rs534345197		TCGA-KK-A8I5-01A-11D-A364-08	TCGA-KK-A8I5-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b87ca7d-24d1-4192-8562-96b302bb907f	f4eca61d-ecdb-483b-bfe1-b1dfd5db648b	g.chr11:47360181C>T	ENST00000545968.1	-	23	2252	c.2198G>A	c.(2197-2199)cGc>cAc	p.R733H	MYBPC3_ENST00000256993.4_Missense_Mutation_p.R732H|MYBPC3_ENST00000399249.2_Missense_Mutation_p.R733H	NM_000256.3	NP_000247.2	Q14896	MYPC3_HUMAN	myosin binding protein C, cardiac	733	Ig-like C2-type 5.		R -> C (in CMH4). {ECO:0000269|PubMed:15519027}.		cardiac muscle contraction (GO:0060048)|cell adhesion (GO:0007155)|heart morphogenesis (GO:0003007)|muscle filament sliding (GO:0030049)|myosin filament assembly (GO:0031034)|positive regulation of ATPase activity (GO:0032781)|regulation of heart rate (GO:0002027)|regulation of muscle filament sliding (GO:0032971)|regulation of striated muscle contraction (GO:0006942)|sarcomere organization (GO:0045214)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	A band (GO:0031672)|C zone (GO:0014705)|cytosol (GO:0005829)|sarcomere (GO:0030017)|striated muscle myosin thick filament (GO:0005863)	ATPase activator activity (GO:0001671)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|myosin binding (GO:0017022)|myosin heavy chain binding (GO:0032036)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(4)|lung(16)|ovary(3)|prostate(3)|urinary_tract(2)	42				Lung(87;0.176)		GAAGATGCTGCGGTCCTTGGT	0.632													C|||	1	0.000199681	0	0	5008	,	,		17879	0		0.001	False		,,,				2504	0					ENST00000545968.1																			0				breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(4)|lung(16)|ovary(3)|prostate(3)|urinary_tract(2)	42						c.(2197-2199)cGc>cAc		myosin binding protein C, cardiac							75	75	75					11																	47360181		2074	4190	6264	SO:0001583	missense	4607				cardiac muscle contraction|cell adhesion|muscle filament sliding|regulation of muscle filament sliding|regulation of striated muscle contraction|ventricular cardiac muscle tissue morphogenesis	C zone|cytosol|striated muscle myosin thick filament	actin binding|ATPase activator activity|metal ion binding|myosin heavy chain binding|structural constituent of muscle|titin binding	g.chr11:47360181C>T	X84075	CCDS53621.1	11p11.2	2014-09-17	2001-11-28			ENSG00000134571		"Myosin binding proteins", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	7551	protein-coding gene	gene with protein product		600958	"myosin-binding protein C, cardiac"	CMH4		7744002, 8358441	Standard	NM_000256		Approved	MYBP-C, FHC	uc021qis.1	Q14896		ENST00000545968.1:c.2198G>A	11.37:g.47360181C>T	ENSP00000442795:p.Arg733His					MYBPC3_ENST00000256993.4_Missense_Mutation_p.R732H|MYBPC3_ENST00000399249.2_Missense_Mutation_p.R733H	p.R733H	NM_000256.3	NP_000247.2	Q14896	MYPC3_HUMAN		Lung(87;0.176)	23	2252	-			732			Ig-like C2-type 5.		A5PL00|Q16410|Q6R2F7|Q9UE27|Q9UM53	Missense_Mutation	SNP	ENST00000545968.1	37	c.2198G>A	CCDS53621.1	.	.	.	.	.	.	.	.	.	.	C	11.94	1.789362	0.31685	.	.	ENSG00000134571	ENST00000545968;ENST00000399249;ENST00000256993	T;T;T	0.68025	-0.3;-0.3;-0.3	5.4	5.4	0.78164	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.37046	0.0989	N	0.02865	-0.47	0.45777	D	0.998665	B	0.10296	0.003	B	0.10450	0.005	T	0.35798	-0.9774	9	0.15066	T	0.55	.	7.0416	0.25023	0.0:0.7913:0.0:0.2087	.	732	Q14896	MYPC3_HUMAN	H	733;733;732	ENSP00000442795:R733H;ENSP00000382193:R733H;ENSP00000256993:R732H	ENSP00000256993:R732H	R	-	2	0	MYBPC3	47316757	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	3.074000	0.50065	2.536000	0.85505	0.563000	0.77884	CGC		0.632	MYBPC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000392271.3			3	18	0	0	0	1	0	3	18					T	47360181	C	T	47360181	3	4	333	1	0	0	0	0	1	0	0	0	10013	768	27	1	1674	1	MYBPC3	11	47360181	Missense_Mutation	SNP	C	TCGA-KK-A8I5-01A-11D-A364-08		47360181	87646335	21	16932											
YPEL4	219539	broad.mit.edu	37	chr11	57413471	57413471	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ccctcagtcccagccgttgtCcttcaccatgtgtgacattt	6	13	7	15	1	2	1	2	1	0	0	4	1	4	1	5	0	1	1	5	0	0	3			TCGA-KK-A8I5-01A-11D-A364-08	TCGA-KK-A8I5-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b87ca7d-24d1-4192-8562-96b302bb907f	f4eca61d-ecdb-483b-bfe1-b1dfd5db648b	g.chr11:57413471C>T	ENST00000524669.1	-	5	3089	c.367G>A	c.(367-369)Gac>Aac	p.D123N	YPEL4_ENST00000544993.1_Missense_Mutation_p.D123N|YPEL4_ENST00000534711.1_Missense_Mutation_p.D123N|YPEL4_ENST00000531442.1_5'Flank|AP000662.4_ENST00000530595.1_RNA|YPEL4_ENST00000300022.3_Missense_Mutation_p.D123N			Q96NS1	YPEL4_HUMAN	yippee-like 4 (Drosophila)	123						nucleus (GO:0005634)				lung(2)|skin(1)	3						CAGCCGTTGTCCTTCACCATG	0.547																																						ENST00000524669.1																			0				lung(2)|skin(1)	3						c.(367-369)Gac>Aac		yippee-like 4 (Drosophila)							179	134	149					11																	57413471		2201	4296	6497	SO:0001583	missense	219539					nucleolus		g.chr11:57413471C>T	AK054775	CCDS7963.1	11q12	2008-02-05				ENSG00000166793			18328	protein-coding gene	gene with protein product		609725					Standard	NM_145008		Approved	FLJ30213	uc001nkv.4	Q96NS1		ENST00000524669.1:c.367G>A	11.37:g.57413471C>T	ENSP00000432648:p.Asp123Asn					AP000662.4_ENST00000530595.1_RNA|YPEL4_ENST00000534711.1_Missense_Mutation_p.D123N|YPEL4_ENST00000300022.3_Missense_Mutation_p.D123N|YPEL4_ENST00000544993.1_Missense_Mutation_p.D123N	p.D123N			Q96NS1	YPEL4_HUMAN			5	3089	-			123					B3KW92|Q2M3U7|Q65Z98	Missense_Mutation	SNP	ENST00000524669.1	37	c.367G>A	CCDS7963.1	.	.	.	.	.	.	.	.	.	.	C	24.2	4.509516	0.85282	.	.	ENSG00000166793	ENST00000524669;ENST00000300022;ENST00000544993;ENST00000534711	.	.	.	5.42	5.42	0.78866	.	0.078023	0.53938	D	0.000041	T	0.67599	0.2910	M	0.62723	1.935	0.80722	D	1	B	0.13145	0.007	B	0.24006	0.05	T	0.63225	-0.6685	9	0.38643	T	0.18	-2.2026	18.8187	0.92088	0.0:1.0:0.0:0.0	.	123	Q96NS1	YPEL4_HUMAN	N	123	.	ENSP00000300022:D123N	D	-	1	0	YPEL4	57170047	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.560000	0.82277	2.544000	0.85801	0.561000	0.74099	GAC		0.547	YPEL4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393370.1	NM_145008		22	33	0	0	0	1	0	22	33					T	57413471	C	T	57413471	3	4	333	1	0	0	0	0	1	0	0	0	17489	855	30	3	20	3	YPEL4	11	57413471	Missense_Mutation	SNP	C	TCGA-KK-A8I5-01A-11D-A364-08	10053290	57413471	77593045	22	16933											
TIGD3	220359	broad.mit.edu	37	chr11	65124205	65124205	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggcctttaaggcccattaccGacaccggctgttgggcaaac	9	8	11	13	2	0	0	0	0	0	0	0	1	0	0	4	4	2	3	4	4	3	4			TCGA-KK-A8I5-01A-11D-A364-08	TCGA-KK-A8I5-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b87ca7d-24d1-4192-8562-96b302bb907f	f4eca61d-ecdb-483b-bfe1-b1dfd5db648b	g.chr11:65124205G>A	ENST00000309880.5	+	2	1133	c.926G>A	c.(925-927)cGa>cAa	p.R309Q		NM_145719.2	NP_663771.1	Q6B0B8	TIGD3_HUMAN	tigger transposable element derived 3	309	DDE.					nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(3)|large_intestine(1)|lung(9)|prostate(2)|skin(2)	17						GCCCATTACCGACACCGGCTG	0.667																																						ENST00000309880.5																			0				endometrium(3)|large_intestine(1)|lung(9)|prostate(2)|skin(2)	17						c.(925-927)cGa>cAa		tigger transposable element derived 3							20	25	23					11																	65124205		2193	4284	6477	SO:0001583	missense	220359				regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	DNA binding	g.chr11:65124205G>A		CCDS8101.1	11q13.1	2008-07-21				ENSG00000173825			18334	protein-coding gene	gene with protein product							Standard	NM_145719		Approved		uc001odo.4	Q6B0B8		ENST00000309880.5:c.926G>A	11.37:g.65124205G>A	ENSP00000308354:p.Arg309Gln						p.R309Q	NM_145719.2	NP_663771.1	Q6B0B8	TIGD3_HUMAN			2	1133	+			309			DDE.			Missense_Mutation	SNP	ENST00000309880.5	37	c.926G>A	CCDS8101.1	.	.	.	.	.	.	.	.	.	.	G	14.93	2.681108	0.47886	.	.	ENSG00000173825	ENST00000309880	T	0.61859	0.07	3.42	3.42	0.39159	.	.	.	.	.	T	0.73923	0.3649	M	0.78049	2.395	0.28298	N	0.923241	D	0.71674	0.998	D	0.76575	0.988	T	0.65212	-0.6223	9	0.72032	D	0.01	-11.5677	10.6142	0.45441	0.0:0.0:1.0:0.0	.	309	Q6B0B8	TIGD3_HUMAN	Q	309	ENSP00000308354:R309Q	ENSP00000308354:R309Q	R	+	2	0	TIGD3	64880781	0.923000	0.31300	0.928000	0.36995	0.322000	0.28314	2.283000	0.43470	1.955000	0.56771	0.456000	0.33151	CGA		0.667	TIGD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387310.1	NM_145719		8	23	0	0	0	1	0	8	23					A	65124205	G	A	65124205	3	1	333	1	0	0	0	0	1	0	0	0	15894	1058	37	2	928	2	TIGD3	11	65124205	Missense_Mutation	SNP	G	TCGA-KK-A8I5-01A-11D-A364-08	7710734	65124205	69882311	23	16934											
ARHGEF17	9828	broad.mit.edu	37	chr11	73020726	73020726	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccgggagtggggtagtggctCtccgccctgcgtcccaggtc	3	8	16	14	3	1	0	0	0	1	0	4	1	2	1	4	5	1	2	4	5	1	1			TCGA-KK-A8I5-01A-11D-A364-08	TCGA-KK-A8I5-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b87ca7d-24d1-4192-8562-96b302bb907f	f4eca61d-ecdb-483b-bfe1-b1dfd5db648b	g.chr11:73020726C>T	ENST00000263674.3	+	1	1393	c.1043C>T	c.(1042-1044)tCt>tTt	p.S348F	RP11-800A3.7_ENST00000546324.1_RNA	NM_014786.3	NP_055601.2	Q96PE2	ARHGH_HUMAN	Rho guanine nucleotide exchange factor (GEF) 17	348					actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(2)	32						GGTAGTGGCTCTCCGCCCTGC	0.612																																						ENST00000263674.3																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(2)	32						c.(1042-1044)tCt>tTt		Rho guanine nucleotide exchange factor (GEF) 17							48	48	48					11																	73020726		2164	4230	6394	SO:0001583	missense	9828				actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity	g.chr11:73020726C>T	AF378754	CCDS8221.1	11q13.3	2011-11-16			ENSG00000110237	ENSG00000110237		"Rho guanine nucleotide exchange factors"	21726	protein-coding gene	gene with protein product	"Rho-specific guanine-nucleotide exchange factor 164 kDa", "tumor endothelial marker 4"					11559528, 12071859	Standard	NM_014786		Approved	TEM4, KIAA0337, p164-RhoGEF	uc001otu.3	Q96PE2	OTTHUMG00000167971	ENST00000263674.3:c.1043C>T	11.37:g.73020726C>T	ENSP00000263674:p.Ser348Phe						p.S348F	NM_014786.3	NP_055601.2	Q96PE2	ARHGH_HUMAN			1	1393	+			348					B2RP20|Q86XU2|Q8N2S0|Q9Y4G3	Missense_Mutation	SNP	ENST00000263674.3	37	c.1043C>T	CCDS8221.1	.	.	.	.	.	.	.	.	.	.	C	10.98	1.503390	0.26949	.	.	ENSG00000110237	ENST00000263674	T	0.58210	0.35	4.85	-0.126	0.13515	.	0.722722	0.11443	N	0.563607	T	0.31670	0.0804	N	0.19112	0.55	0.09310	N	1	B	0.25169	0.119	B	0.21917	0.037	T	0.26503	-1.0101	10	0.72032	D	0.01	0.093	3.8394	0.08908	0.3167:0.4554:0.0:0.2279	.	348	Q96PE2	ARHGH_HUMAN	F	348	ENSP00000263674:S348F	ENSP00000263674:S348F	S	+	2	0	ARHGEF17	72698374	0.000000	0.05858	0.013000	0.15412	0.838000	0.47535	0.084000	0.14891	0.453000	0.26858	0.462000	0.41574	TCT		0.612	ARHGEF17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397365.1	NM_014786		21	39	0	0	0	1	0	21	39					T	73020726	C	T	73020726	3	4	333	1	0	0	0	0	1	0	0	0	900	913	32	3	1045	3	ARHGEF17	11	73020726	Missense_Mutation	SNP	C	TCGA-KK-A8I5-01A-11D-A364-08	7896521	73020726	61985790	24	16935											
TM7SF3	51768	broad.mit.edu	37	chr12	27143491	27143491	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtcccaaacaatgacattgtAtatgacaccttgtcccggga	12	10	8	11	1	0	2	0	2	0	0	2	3	2	3	3	1	1	1	3	1	4	4			TCGA-KK-A8I5-01A-11D-A364-08	TCGA-KK-A8I5-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b87ca7d-24d1-4192-8562-96b302bb907f	f4eca61d-ecdb-483b-bfe1-b1dfd5db648b	g.chr12:27143491A>G	ENST00000343028.4	-	6	985	c.760T>C	c.(760-762)Tac>Cac	p.Y254H	TM7SF3_ENST00000542667.1_Intron	NM_016551.2	NP_057635.1	Q9NS93	TM7S3_HUMAN	transmembrane 7 superfamily member 3	254						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	18	Colorectal(261;0.0847)					ATGACATTGTATATGACACCT	0.453																																						ENST00000343028.4																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	18						c.(760-762)Tac>Cac		transmembrane 7 superfamily member 3							137	123	128					12																	27143491		2203	4300	6503	SO:0001583	missense	51768					integral to membrane|plasma membrane		g.chr12:27143491A>G	AB032470	CCDS8710.1	12q11-q12	2012-08-10			ENSG00000064115	ENSG00000064115			23049	protein-coding gene	gene with protein product		605181				10828615	Standard	NM_016551		Approved		uc010sjl.2	Q9NS93	OTTHUMG00000169243	ENST00000343028.4:c.760T>C	12.37:g.27143491A>G	ENSP00000342322:p.Tyr254His					TM7SF3_ENST00000542667.1_Intron	p.Y254H	NM_016551.2	NP_057635.1	Q9NS93	TM7S3_HUMAN			6	985	-	Colorectal(261;0.0847)		254					B3KMZ3|Q9NUS4	Missense_Mutation	SNP	ENST00000343028.4	37	c.760T>C	CCDS8710.1	.	.	.	.	.	.	.	.	.	.	A	22.9	4.354529	0.82243	.	.	ENSG00000064115	ENST00000343028;ENST00000543655;ENST00000535819	T;T;T	0.63255	0.3;-0.03;-0.03	5.0	5.0	0.66597	.	0.060871	0.64402	D	0.000002	T	0.77452	0.4132	M	0.77103	2.36	0.51767	D	0.999932	D	0.71674	0.998	D	0.65573	0.936	T	0.78560	-0.2157	10	0.41790	T	0.15	-15.5825	15.0064	0.71516	1.0:0.0:0.0:0.0	.	254	Q9NS93	TM7S3_HUMAN	H	254;45;45	ENSP00000342322:Y254H;ENSP00000441924:Y45H;ENSP00000445156:Y45H	ENSP00000342322:Y254H	Y	-	1	0	TM7SF3	27034758	1.000000	0.71417	0.988000	0.46212	0.935000	0.57460	8.369000	0.90118	2.006000	0.58801	0.477000	0.44152	TAC		0.453	TM7SF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403033.1	NM_016551		7	52	0	0	0	1	0	7	52					G	27143491	A	G	27143491	3	3	333	1	0	0	0	0	1	0	0	0	15972	449	16	4	980	4	TM7SF3	12	27143491	Missense_Mutation	SNP	A	TCGA-KK-A8I5-01A-11D-A364-08		27143491	106708404	25	16936											
SLC16A7	9194	broad.mit.edu	37	chr12	60173227	60173227	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aattggtggatttaactggaGaatataaatacatgtacatg	16	13	9	3	0	0	1	0	0	0	1	0	3	0	2	0	3	3	1	0	3	8	7			TCGA-KK-A8I5-01A-11D-A364-08	TCGA-KK-A8I5-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b87ca7d-24d1-4192-8562-96b302bb907f	f4eca61d-ecdb-483b-bfe1-b1dfd5db648b	g.chr12:60173227G>A	ENST00000261187.4	+	5	1368	c.1204G>A	c.(1204-1206)Gaa>Aaa	p.E402K	SLC16A7_ENST00000552432.1_Missense_Mutation_p.E402K|SLC16A7_ENST00000543448.1_Missense_Mutation_p.E303K|SLC16A7_ENST00000547379.1_Missense_Mutation_p.E402K|SLC16A7_ENST00000552024.1_Missense_Mutation_p.E402K	NM_004731.4	NP_004722.2	O60669	MOT2_HUMAN	solute carrier family 16 (monocarboxylate transporter), member 7	402					lactate transmembrane transport (GO:0035873)|pyruvate transmembrane transport (GO:1901475)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	lactate transmembrane transporter activity (GO:0015129)|pyruvate secondary active transmembrane transporter activity (GO:0005477)|pyruvate transmembrane transporter activity (GO:0050833)|secondary active monocarboxylate transmembrane transporter activity (GO:0015355)|symporter activity (GO:0015293)	p.E402*(1)		endometrium(1)|large_intestine(14)|liver(2)|lung(11)|ovary(1)|skin(1)	30				GBM - Glioblastoma multiforme(3;0.0303)	Gamma Hydroxybutyric Acid(DB01440)|Niflumic Acid(DB04552)|Probenecid(DB01032)|Pyruvic acid(DB00119)	TTTAACTGGAGAATATAAATA	0.343																																						ENST00000261187.4																			1	Substitution - Nonsense(1)	p.E402*(1)	large_intestine(1)	endometrium(1)|large_intestine(14)|liver(2)|lung(11)|ovary(1)|skin(1)	30						c.(1204-1206)Gaa>Aaa		solute carrier family 16 (monocarboxylate transporter), member 7	Pyruvic acid(DB00119)						63	62	62					12																	60173227		2203	4299	6502	SO:0001583	missense	9194					integral to plasma membrane|membrane fraction	pyruvate secondary active transmembrane transporter activity|secondary active monocarboxylate transmembrane transporter activity|symporter activity	g.chr12:60173227G>A	AF049608	CCDS8961.1	12q14.1	2013-07-18	2013-07-18		ENSG00000118596	ENSG00000118596		"Solute carriers"	10928	protein-coding gene	gene with protein product		603654	"solute carrier family 16 (monocarboxylic acid transporters), member 7"			9786900	Standard	NM_004731		Approved	MCT2	uc001sqt.4	O60669	OTTHUMG00000169923	ENST00000261187.4:c.1204G>A	12.37:g.60173227G>A	ENSP00000261187:p.Glu402Lys					SLC16A7_ENST00000547379.1_Missense_Mutation_p.E402K|SLC16A7_ENST00000552024.1_Missense_Mutation_p.E402K|SLC16A7_ENST00000543448.1_Missense_Mutation_p.E303K|SLC16A7_ENST00000552432.1_Missense_Mutation_p.E402K	p.E402K	NM_001270622.1|NM_001270623.1|NM_004731.3	NP_001257551.1|NP_001257552.1|NP_004722.2	O60669	MOT2_HUMAN		GBM - Glioblastoma multiforme(3;0.0303)	5	1368	+			402					Q8NEM3|Q9UPB3	Missense_Mutation	SNP	ENST00000261187.4	37	c.1204G>A	CCDS8961.1	.	.	.	.	.	.	.	.	.	.	G	6.642	0.486870	0.12641	.	.	ENSG00000118596	ENST00000552432;ENST00000547379;ENST00000552024;ENST00000548610;ENST00000261187;ENST00000543448	T;T;T;T;T;T	0.41400	1.0;1.0;1.0;1.0;1.0;1.0	5.26	-1.49	0.08718	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.887802	0.10229	N	0.699879	T	0.21145	0.0509	N	0.12746	0.255	0.22001	N	0.999428	B	0.09022	0.002	B	0.08055	0.003	T	0.25537	-1.0129	9	.	.	.	.	8.5263	0.33307	0.1956:0.3532:0.4512:0.0	.	402	O60669	MOT2_HUMAN	K	402;402;402;402;402;303	ENSP00000449547:E402K;ENSP00000448071:E402K;ENSP00000448742:E402K;ENSP00000446722:E402K;ENSP00000261187:E402K;ENSP00000443731:E303K	.	E	+	1	0	SLC16A7	58459494	1.000000	0.71417	0.000000	0.03702	0.061000	0.15899	1.580000	0.36547	-0.546000	0.06216	0.591000	0.81541	GAA		0.343	SLC16A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406587.1	NM_004731		13	30	0	0	0	1	0	13	30					A	60173227	G	A	60173227	3	1	333	1	0	0	0	0	1	0	0	0	14413	943	33	3	1218	3	SLC16A7	12	60173227	Missense_Mutation	SNP	G	TCGA-KK-A8I5-01A-11D-A364-08	33029736	60173227	73678668	26	16937											
ANKRD13A	88455	broad.mit.edu	37	chr12	110475354	110475354	+	Frame_Shift_Del	DEL	A	A	-																															tacagctgtcactcactgacAaatagacctttcagcctgtg																										TCGA-KK-A8I5-01A-11D-A364-08	TCGA-KK-A8I5-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b87ca7d-24d1-4192-8562-96b302bb907f	f4eca61d-ecdb-483b-bfe1-b1dfd5db648b	g.chr12:110475354delA	ENST00000261739.4	+	15	1934	c.1768delA	c.(1768-1770)aaafs	p.K590fs	C12orf76_ENST00000546651.2_Intron	NM_033121.1	NP_149112.1	Q8IZ07	AN13A_HUMAN	ankyrin repeat domain 13A	590						endosome (GO:0005768)|plasma membrane (GO:0005886)				endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(8)|lung(3)|urinary_tract(1)	16						ACTCACTGACAAATAGACCTT	0.572																																						ENST00000261739.4																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(8)|lung(3)|urinary_tract(1)	16						c.(1768-1770)aafs		ankyrin repeat domain 13A							37	38	38					12																	110475354		2203	4300	6503	SO:0001589	frameshift_variant	88455							g.chr12:110475354delA	AF064604	CCDS9140.1	12q24.12	2013-01-10	2006-06-30	2006-06-30		ENSG00000076513		"Ankyrin repeat domain containing"	21268	protein-coding gene	gene with protein product		615123	"ankyrin repeat domain 13"	ANKRD13		10508479	Standard	NM_033121		Approved	NY-REN-25	uc001tpx.3	Q8IZ07	OTTHUMG00000169314	ENST00000261739.4:c.1768delA	12.37:g.110475354delA	ENSP00000261739:p.Lys590fs					C12orf76_ENST00000546651.2_Intron	p.K590fs	NM_033121.1	NP_149112.1	Q8IZ07	AN13A_HUMAN			15	1934	+			590					O60736	Frame_Shift_Del	DEL	ENST00000261739.4	37	c.1768delA	CCDS9140.1																																																																																				0.572	ANKRD13A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403430.1	NM_033121		11	12						11	12	---	---	---	---	-	110475354	A	-	110475354	7	5	333	1	0	1	0	1	0	0	0	0	641	131	5	0	1826	0	ANKRD13A	12	110475354	Frame_Shift_Del	DEL	A	TCGA-KK-A8I5-01A-11D-A364-08	50302127	110475354	23376541	27	16938											
SOX1	6656	broad.mit.edu	37	chr13	112722311	112722311	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgcgcgcgctgcacatgaaGgagcacccggattacaagta	11	6	12	12	4	0	1	0	1	0	0	0	3	0	3	1	2	4	4	1	2	4	2			TCGA-KK-A8I5-01A-11D-A364-08	TCGA-KK-A8I5-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b87ca7d-24d1-4192-8562-96b302bb907f	f4eca61d-ecdb-483b-bfe1-b1dfd5db648b	g.chr13:112722311G>A	ENST00000330949.1	+	1	399	c.339G>A	c.(337-339)aaG>aaA	p.K113K		NM_005986.2	NP_005977.2	O00570	SOX1_HUMAN	SRY (sex determining region Y)-box 1	113					chromatin organization (GO:0006325)|forebrain neuron development (GO:0021884)|lens morphogenesis in camera-type eye (GO:0002089)|neuron migration (GO:0001764)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|ventral spinal cord interneuron specification (GO:0021521)	nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			lung(4)	4	all_lung(23;0.000652)|Lung NSC(43;0.017)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	all_cancers(25;0.000331)|Lung NSC(25;0.0496)|all_lung(25;0.0831)|all_epithelial(44;0.0868)|Breast(118;0.231)		OV - Ovarian serous cystadenocarcinoma(48;0.132)		TGCACATGAAGGAGCACCCGG	0.677																																						ENST00000330949.1																			0				lung(4)	4						c.(337-339)aaG>aaA		SRY (sex determining region Y)-box 1							38	42	40					13																	112722311		2203	4300	6503	SO:0001819	synonymous_variant	6656				chromatin organization	nucleus	core promoter sequence-specific DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr13:112722311G>A		CCDS9523.1	13q34	2008-07-18			ENSG00000182968	ENSG00000182968		"SRY (sex determining region Y)-boxes"	11189	protein-coding gene	gene with protein product	"SRY-related HMG-box gene 1"	602148				9337405	Standard	NM_005986		Approved		uc001vsb.1	O00570	OTTHUMG00000017362	ENST00000330949.1:c.339G>A	13.37:g.112722311G>A							p.K113K	NM_005986.2	NP_005977.2	O00570	SOX1_HUMAN		OV - Ovarian serous cystadenocarcinoma(48;0.132)	1	399	+	all_lung(23;0.000652)|Lung NSC(43;0.017)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	all_cancers(25;0.000331)|Lung NSC(25;0.0496)|all_lung(25;0.0831)|all_epithelial(44;0.0868)|Breast(118;0.231)	113					Q5W0Q1	Silent	SNP	ENST00000330949.1	37	c.339G>A	CCDS9523.1																																																																																				0.677	SOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045817.3	NM_005986		5	26	0	0	0	1	0	5	26					A	112722311	G	A	112722311	2	1	333	1	0	0	0	0	0	0	0	1	14940	991	35	3		3	SOX1	13	112722311	Silent	SNP	G	TCGA-KK-A8I5-01A-11D-A364-08		112722311	2447567	28	16939											
PLA2G4E	123745	broad.mit.edu	37	chr15	42279575	42279575	+	Splice_Site	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcaggatcggctcgtcttcTgcaggggagggagggatgaa	8	7	19	7	2	2	1	0	1	2	0	4	5	2	5	0	7	1	3	0	7	1	1			TCGA-KK-A8I5-01A-11D-A364-08	TCGA-KK-A8I5-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b87ca7d-24d1-4192-8562-96b302bb907f	f4eca61d-ecdb-483b-bfe1-b1dfd5db648b	g.chr15:42279575T>G	ENST00000399518.3	-	17	2318		c.e17-2		PLA2G4E_ENST00000413860.2_Splice_Site|CTD-2382E5.1_ENST00000499478.2_RNA	NM_001206670.1	NP_001193599.1	Q3MJ16	PA24E_HUMAN	phospholipase A2, group IVE						glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid catabolic process (GO:0009395)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|lysosome (GO:0005764)|membrane (GO:0016020)	metal ion binding (GO:0046872)|phospholipase A2 activity (GO:0004623)			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|stomach(1)	16		all_cancers(109;8.09e-13)|all_epithelial(112;2.03e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.0273)		OV - Ovarian serous cystadenocarcinoma(18;7.61e-18)|GBM - Glioblastoma multiforme(94;3.07e-06)		GCTCGTCTTCTGCAGGGGAGG	0.577																																						ENST00000399518.3																			0				NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|stomach(1)	16						c.e17-2		phospholipase A2, group IVE							45	47	46					15																	42279575		1959	4137	6096	SO:0001630	splice_region_variant	123745				phospholipid catabolic process	cytosol|lysosomal membrane	metal ion binding|phospholipase A2 activity	g.chr15:42279575T>G		CCDS55962.1	15q15.1	2008-09-19			ENSG00000188089	ENSG00000188089	3.1.1.4		24791	protein-coding gene	gene with protein product						15866882	Standard	NM_001206670		Approved	FLJ45651	uc021sjp.1	Q3MJ16	OTTHUMG00000130371	ENST00000399518.3:c.1832-2A>C	15.37:g.42279575T>G						CTD-2382E5.1_ENST00000499478.2_RNA|PLA2G4E_ENST00000413860.2_Splice_Site		NM_001206670.1	NP_001193599.1	Q3MJ16	PA24E_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;7.61e-18)|GBM - Glioblastoma multiforme(94;3.07e-06)	17	2318	-		all_cancers(109;8.09e-13)|all_epithelial(112;2.03e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.0273)						Q6ZSC0	Splice_Site	SNP	ENST00000399518.3	37		CCDS55962.1	.	.	.	.	.	.	.	.	.	.	T	13.28	2.188815	0.38609	.	.	ENSG00000188089	ENST00000399518;ENST00000413860	.	.	.	5.77	4.63	0.57726	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.041	0.42158	0.1504:0.0:0.0:0.8496	.	.	.	.	.	-1	.	.	.	-	.	.	PLA2G4E	40066867	1.000000	0.71417	0.999000	0.59377	0.463000	0.32649	4.734000	0.62043	0.984000	0.38629	0.529000	0.55759	.		0.577	PLA2G4E-001	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252738.2	NM_198442	Intron	4	12	0	0	0	1	0	4	12					G	42279575	T	G	42279575	5	3	333	1	0	0	0	0	0	0	1	0	12005	1594	55	5	792	5	PLA2G4E	15	42279575	Splice_Site	SNP	T	TCGA-KK-A8I5-01A-11D-A364-08		42279575	60251817	29	16940											
CIITA	4261	broad.mit.edu	37	chr16	11000408	11000408	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gacacgtatggtgccgagccCgcaggcccggatggcatcct	7	6	14	14	4	0	0	0	0	0	0	1	3	1	1	4	4	2	3	4	4	1	1			TCGA-KK-A8I5-01A-11D-A364-08	TCGA-KK-A8I5-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b87ca7d-24d1-4192-8562-96b302bb907f	f4eca61d-ecdb-483b-bfe1-b1dfd5db648b	g.chr16:11000408C>T	ENST00000324288.8	+	11	1192	c.1059C>T	c.(1057-1059)ccC>ccT	p.P353P	CIITA_ENST00000537380.1_Intron|CIITA_ENST00000381835.5_Intron	NM_000246.3	NP_000237	P33076	C2TA_HUMAN	class II, major histocompatibility complex, transactivator	353					aging (GO:0007568)|cellular response to electrical stimulus (GO:0071257)|cellular response to exogenous dsRNA (GO:0071360)|cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)|inflammatory response (GO:0006954)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of collagen biosynthetic process (GO:0032966)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of MHC class I biosynthetic process (GO:0045345)|positive regulation of MHC class II biosynthetic process (GO:0045348)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|response to antibiotic (GO:0046677)|response to interferon-gamma (GO:0034341)|transcription, DNA-templated (GO:0006351)	cell surface (GO:0009986)|nucleoplasm (GO:0005654)|PML body (GO:0016605)	activating transcription factor binding (GO:0033613)|ATP binding (GO:0005524)|GTP binding (GO:0005525)|kinase activity (GO:0016301)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)|transferase activity, transferring acyl groups (GO:0016746)			central_nervous_system(1)|large_intestine(7)|ovary(1)|skin(1)|stomach(2)	12						GTGCCGAGCCCGCAGGCCCGG	0.662			T	"FLJ27352, CD274, CD273, RALGDS, RUNDC2A, C16orf75, BCL6"	"PMBL, Hodgkin Lymphona, "																																	ENST00000324288.8				Dom	yes		16	16p13	4261	T	"class II, major histocompatibility complex, transactivator"			L	"FLJ27352, CD274, CD273, RALGDS, RUNDC2A, C16orf75, BCL6"		"PMBL, Hodgkin Lymphona, "		0				central_nervous_system(1)|large_intestine(7)|ovary(1)|skin(1)|stomach(2)	12						c.(1057-1059)ccC>ccT		class II, major histocompatibility complex, transactivator							34	34	34					16																	11000408		2197	4300	6497	SO:0001819	synonymous_variant	4261				interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|response to antibiotic|transcription, DNA-dependent	nucleus	activating transcription factor binding|ATP binding|protein C-terminus binding|protein complex binding|transcription coactivator activity|transcription regulatory region DNA binding	g.chr16:11000408C>T	U18259	CCDS10544.1, CCDS66943.1, CCDS73826.1	16p13	2014-09-17	2005-08-12	2005-08-12	ENSG00000179583	ENSG00000179583		"Nucleotide-binding domain and leucine rich repeat containing"	7067	protein-coding gene	gene with protein product	"NLR family, acid domain containing", "nucleotide-binding oligomerization domain, leucine rich repeat and acid domain containing"	600005	"MHC class II transactivator"	MHC2TA		8402893	Standard	NM_000246		Approved	C2TA, NLRA	uc002dai.4	P33076	OTTHUMG00000129753	ENST00000324288.8:c.1059C>T	16.37:g.11000408C>T						CIITA_ENST00000381835.5_Intron|CIITA_ENST00000537380.1_Intron	p.P353P	NM_000246.3	NP_000237.2	P33076	C2TA_HUMAN			11	1192	+			353					A0N0N9|D3DUG0|E9PFE0|Q29675|Q8SNB8|Q96KL4	Silent	SNP	ENST00000324288.8	37	c.1059C>T	CCDS10544.1																																																																																				0.662	CIITA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251966.2	NM_000246		14	16	0	0	0	1	0	14	16					T	11000408	C	T	11000408	2	4	333	1	0	0	0	0	0	0	0	1	3428	639	23	2		2	CIITA	16	11000408	Silent	SNP	C	TCGA-KK-A8I5-01A-11D-A364-08		11000408	79354345	30	16941											
DNAH3	55567	broad.mit.edu	37	chr16	21063004	21063004	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agtgtacctgtagcagcggtCggtgaggggtgtgatcacca	8	9	16	8	2	1	2	1	2	0	0	2	2	1	2	2	4	3	3	2	4	2	2			TCGA-KK-A8I5-01A-11D-A364-08	TCGA-KK-A8I5-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b87ca7d-24d1-4192-8562-96b302bb907f	f4eca61d-ecdb-483b-bfe1-b1dfd5db648b	g.chr16:21063004C>T	ENST00000261383.3	-	29	4224	c.4225G>A	c.(4225-4227)Gac>Aac	p.D1409N	DNAH3_ENST00000415178.1_Missense_Mutation_p.D1409N	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	1409	AAA 1. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		TAGCAGCGGTCGGTGAGGGGT	0.562																																						ENST00000261383.3																			0				NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202						c.(4225-4227)Gac>Aac		dynein, axonemal, heavy chain 3							91	92	92					16																	21063004		2201	4300	6501	SO:0001583	missense	55567				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr16:21063004C>T	U83574	CCDS10594.1	16p12.2	2008-08-01	2006-09-04		ENSG00000158486	ENSG00000158486		"Axonemal dyneins"	2949	protein-coding gene	gene with protein product		603334	"dynein, axonemal, heavy polypeptide 3"			9256245, 9373155	Standard	NM_017539		Approved	Dnahc3b, DLP3, Hsadhc3, DKFZp434N074	uc010vbe.2	Q8TD57	OTTHUMG00000090677	ENST00000261383.3:c.4225G>A	16.37:g.21063004C>T	ENSP00000261383:p.Asp1409Asn					DNAH3_ENST00000415178.1_Missense_Mutation_p.D1409N	p.D1409N	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN		GBM - Glioblastoma multiforme(48;0.207)	29	4224	-			1409			AAA 1 (By similarity).		O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Missense_Mutation	SNP	ENST00000261383.3	37	c.4225G>A	CCDS10594.1	.	.	.	.	.	.	.	.	.	.	C	35	5.517752	0.96416	.	.	ENSG00000158486	ENST00000261383;ENST00000415178	T;T	0.14893	2.47;2.47	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	T	0.57198	0.2037	H	0.94698	3.57	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.68930	-0.5279	10	0.87932	D	0	.	20.0086	0.97443	0.0:1.0:0.0:0.0	.	1409	Q8TD57	DYH3_HUMAN	N	1409	ENSP00000261383:D1409N;ENSP00000394245:D1409N	ENSP00000261383:D1409N	D	-	1	0	DNAH3	20970505	1.000000	0.71417	0.997000	0.53966	0.921000	0.55340	7.729000	0.84864	2.717000	0.92951	0.655000	0.94253	GAC		0.562	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207361.1	NM_017539		24	47	0	0	0	1	0	24	47					T	21063004	C	T	21063004	3	4	333	1	0	0	0	0	1	0	0	0	4603	884	31	2	8260	2	DNAH3	16	21063004	Missense_Mutation	SNP	C	TCGA-KK-A8I5-01A-11D-A364-08	10062596	21063004	69291749	31	16942											
MNT	4335	broad.mit.edu	37	chr17	2298503	2298503	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aggctgggctgccgcgggcaAgggtgggggtgggggtagag	5	5	25	6	2	0	1	0	0	0	1	0	1	0	1	1	8	1	4	1	8	2	1			TCGA-KK-A8I5-01A-11D-A364-08	TCGA-KK-A8I5-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b87ca7d-24d1-4192-8562-96b302bb907f	f4eca61d-ecdb-483b-bfe1-b1dfd5db648b	g.chr17:2298503A>G	ENST00000174618.4	-	2	724	c.319T>C	c.(319-321)Ttg>Ctg	p.L107L	MNT_ENST00000575394.1_Intron	NM_020310.2	NP_064706.1	Q99583	MNT_HUMAN	MAX network transcriptional repressor	107					cell aging (GO:0007569)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of cell cycle (GO:0051726)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			endometrium(4)|large_intestine(5)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	12				Colorectal(2;1.37e-05)|READ - Rectum adenocarcinoma(2;8.68e-05)		GCCGCgggcaagggtgggggt	0.711																																						ENST00000174618.4																			0				endometrium(4)|large_intestine(5)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	12						c.(319-321)Ttg>Ctg		MAX network transcriptional repressor							4	5	5					17																	2298503		2011	3966	5977	SO:0001819	synonymous_variant	4335				multicellular organismal development|negative regulation of cell proliferation|transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity	g.chr17:2298503A>G	Y13444	CCDS11018.1	17p13.3	2013-11-15	2013-11-15		ENSG00000070444	ENSG00000070444		"MAX dimerization proteins", "Basic helix-loop-helix proteins"	7188	protein-coding gene	gene with protein product	"myc antagonist", "Max-interacting protein"	603039	"MAX binding protein", "MNT, MAX dimerization protein"			9598315	Standard	NM_020310		Approved	ROX, MXD6, MAD6, bHLHd3	uc002fur.3	Q99583	OTTHUMG00000090603	ENST00000174618.4:c.319T>C	17.37:g.2298503A>G							p.L107L	NM_020310.2	NP_064706.1	Q99583	MNT_HUMAN		Colorectal(2;1.37e-05)|READ - Rectum adenocarcinoma(2;8.68e-05)	2	724	-			107					A8K6D1|D3DTI7|Q1ED38	Silent	SNP	ENST00000174618.4	37	c.319T>C	CCDS11018.1																																																																																				0.711	MNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207158.1	NM_020310		2	2	0	0	0	1	0	2	2					G	2298503	A	G	2298503	2	3	333	1	0	0	0	0	0	0	0	1	9678	69	3	4		4	MNT	17	2298503	Silent	SNP	A	TCGA-KK-A8I5-01A-11D-A364-08		2298503	78896707	32	16943											
GJC1	10052	broad.mit.edu	37	chr17	42882370	42882370	+	Silent	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaggataattataagcaccCggatcctcaagttccctcct	13	10	6	12	1	1	0	1	0	0	0	4	2	4	2	4	2	1	2	4	2	5	4	rs539602139	byFrequency	TCGA-KK-A8I5-01A-11D-A364-08	TCGA-KK-A8I5-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b87ca7d-24d1-4192-8562-96b302bb907f	f4eca61d-ecdb-483b-bfe1-b1dfd5db648b	g.chr17:42882370C>G	ENST00000426548.1	-	3	1085	c.816G>C	c.(814-816)ccG>ccC	p.P272P	GJC1_ENST00000592524.1_Silent_p.P272P|GJC1_ENST00000330514.4_Silent_p.P272P|GJC1_ENST00000590758.1_Silent_p.P272P	NM_001080383.1|NM_005497.3	NP_001073852.1|NP_005488.2	P36383	CXG1_HUMAN	gap junction protein, gamma 1, 45kDa	272					atrial cardiac muscle cell action potential (GO:0086014)|cardiac muscle tissue development (GO:0048738)|cell development (GO:0048468)|cell-cell junction assembly (GO:0007043)|gap junction assembly (GO:0016264)|membrane organization (GO:0061024)|muscle contraction (GO:0006936)|synaptic transmission (GO:0007268)|transport (GO:0006810)|vasculogenesis (GO:0001570)|visual perception (GO:0007601)	connexon complex (GO:0005922)|endoplasmic reticulum membrane (GO:0005789)|gap junction (GO:0005921)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|plasma membrane (GO:0005886)	gap junction channel activity (GO:0005243)|ion channel activity (GO:0005216)			NS(1)|kidney(1)|large_intestine(5)|liver(1)|lung(10)|prostate(1)	19		Prostate(33;0.0959)				TATAAGCACCCGGATCCTCAA	0.453																																						ENST00000426548.1																			0				NS(1)|kidney(1)|large_intestine(5)|liver(1)|lung(10)|prostate(1)	19						c.(814-816)ccG>ccC		gap junction protein, gamma 1, 45kDa							133	134	134					17																	42882370		2203	4300	6503	SO:0001819	synonymous_variant	10052				cellular membrane organization|gap junction assembly|muscle contraction|synaptic transmission|transport	connexon complex|integral to membrane		g.chr17:42882370C>G	U03493	CCDS11487.1	17q21.31	2008-02-04	2007-11-06	2007-11-06		ENSG00000182963		"Ion channels / Gap junction proteins (connexins)"	4280	protein-coding gene	gene with protein product	"connexin 45"	608655	"gap junction protein, alpha 7, 45kDa"	GJA7		7966354	Standard	NM_005497		Approved	CX45	uc002ihl.3	P36383		ENST00000426548.1:c.816G>C	17.37:g.42882370C>G						GJC1_ENST00000592524.1_Silent_p.P272P|GJC1_ENST00000590758.1_Silent_p.P272P|GJC1_ENST00000330514.4_Silent_p.P272P	p.P272P	NM_001080383.1|NM_005497.3	NP_001073852.1|NP_005488.2	P36383	CXG1_HUMAN			3	1085	-		Prostate(33;0.0959)	272					B3KW68|Q4VAY0	Silent	SNP	ENST00000426548.1	37	c.816G>C	CCDS11487.1																																																																																				0.453	GJC1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448661.1	NM_005497		22	73	0	0	0	1	0	22	73					G	42882370	C	G	42882370	2	3	333	1	0	0	0	0	0	0	0	1	6414	639	23	5		5	GJC1	17	42882370	Silent	SNP	C	TCGA-KK-A8I5-01A-11D-A364-08	40583867	42882370	38312840	33	16944											
ICAM2	3384	broad.mit.edu	37	chr17	62081238	62081238	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggctgtccaggggctccaCggtgggcaccctgcactcaa	7	6	14	14	1	1	0	1	0	0	0	3	1	3	0	3	5	1	4	3	5	1	0			TCGA-KK-A8I5-01A-11D-A364-08	TCGA-KK-A8I5-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b87ca7d-24d1-4192-8562-96b302bb907f	f4eca61d-ecdb-483b-bfe1-b1dfd5db648b	g.chr17:62081238C>T	ENST00000412356.1	-	5	769	c.415G>A	c.(415-417)Gtg>Atg	p.V139M	ICAM2_ENST00000579788.1_Missense_Mutation_p.V139M|ICAM2_ENST00000581417.1_5'UTR|ICAM2_ENST00000418105.1_Missense_Mutation_p.V139M|C17orf72_ENST00000412177.1_3'UTR|ICAM2_ENST00000449662.2_Missense_Mutation_p.V139M|ICAM2_ENST00000578379.1_Missense_Mutation_p.V38M|ICAM2_ENST00000578892.1_Missense_Mutation_p.V115M|ICAM2_ENST00000579687.1_Missense_Mutation_p.V139M	NM_001099786.1	NP_001093256.1	P13598	ICAM2_HUMAN	intercellular adhesion molecule 2	139	Ig-like C2-type 2.				extracellular matrix organization (GO:0030198)|regulation of immune response (GO:0050776)|single organismal cell-cell adhesion (GO:0016337)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|uropod (GO:0001931)	integrin binding (GO:0005178)			large_intestine(1)|lung(2)|ovary(1)|skin(2)	6						AGGGGCTCCACGGTGGGCACC	0.612																																						ENST00000412356.1																			0				large_intestine(1)|lung(2)|ovary(1)|skin(2)	6						c.(415-417)Gtg>Atg		intercellular adhesion molecule 2							56	53	54					17																	62081238		2203	4300	6503	SO:0001583	missense	3384				cell-cell adhesion|regulation of immune response	integral to plasma membrane	integrin binding	g.chr17:62081238C>T		CCDS11657.1	17q23.3	2014-01-30			ENSG00000108622	ENSG00000108622		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Endogenous ligands"	5345	protein-coding gene	gene with protein product		146630				1769660	Standard	NM_001099786		Approved	CD102	uc002jdx.4	P13598		ENST00000412356.1:c.415G>A	17.37:g.62081238C>T	ENSP00000415283:p.Val139Met					ICAM2_ENST00000581417.1_5'UTR|ICAM2_ENST00000579788.1_Missense_Mutation_p.V139M|ICAM2_ENST00000579687.1_Missense_Mutation_p.V139M|ICAM2_ENST00000578892.1_Missense_Mutation_p.V115M|ICAM2_ENST00000578379.1_Missense_Mutation_p.V38M|ICAM2_ENST00000449662.2_Missense_Mutation_p.V139M|ICAM2_ENST00000418105.1_Missense_Mutation_p.V139M|C17orf72_ENST00000412177.1_3'UTR	p.V139M	NM_001099786.1	NP_001093256.1	P13598	ICAM2_HUMAN			5	769	-			139			Ig-like C2-type 2.		Q14600	Missense_Mutation	SNP	ENST00000412356.1	37	c.415G>A	CCDS11657.1	.	.	.	.	.	.	.	.	.	.	C	18.70	3.680271	0.68042	.	.	ENSG00000108622	ENST00000412356;ENST00000418105;ENST00000449662	T;T;T	0.03920	3.76;3.76;3.76	5.13	5.13	0.70059	Intercellular adhesion molecule/vascular cell adhesion molecule, N-terminal (1);Immunoglobulin-like fold (1);	0.154247	0.42053	D	0.000762	T	0.21103	0.0508	M	0.79926	2.475	0.21355	N	0.999719	D	0.89917	1.0	D	0.67382	0.951	T	0.02691	-1.1123	10	0.66056	D	0.02	-32.1125	14.067	0.64837	0.0:1.0:0.0:0.0	.	139	P13598	ICAM2_HUMAN	M	139	ENSP00000415283:V139M;ENSP00000388666:V139M;ENSP00000392634:V139M	ENSP00000415283:V139M	V	-	1	0	ICAM2	59434970	0.304000	0.24472	0.489000	0.27452	0.875000	0.50365	2.259000	0.43259	2.364000	0.80123	0.462000	0.41574	GTG		0.612	ICAM2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443687.1			17	20	0	0	0	1	0	17	20					T	62081238	C	T	62081238	3	4	333	1	0	0	0	0	1	0	0	0	7480	536	19	1	420	1	ICAM2	17	62081238	Missense_Mutation	SNP	C	TCGA-KK-A8I5-01A-11D-A364-08	19198868	62081238	19113972	34	16945											
RGS9BP	388531	broad.mit.edu	37	chr19	33167292	33167292	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aacctgcggcaggagctgcaAaagacgcgccagaaggcgca	13	2	14	12	4	0	2	0	0	0	2	0	3	0	3	2	3	4	4	2	3	4	0			TCGA-KK-A8I5-01A-11D-A364-08	TCGA-KK-A8I5-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b87ca7d-24d1-4192-8562-96b302bb907f	f4eca61d-ecdb-483b-bfe1-b1dfd5db648b	g.chr19:33167292A>G	ENST00000334176.3	+	1	980	c.123A>G	c.(121-123)caA>caG	p.Q41Q	ANKRD27_ENST00000306065.4_5'Flank|ANKRD27_ENST00000587352.1_5'Flank	NM_207391.2	NP_997274.2	Q6ZS82	R9BP_HUMAN	regulator of G protein signaling 9 binding protein	41					detection of light stimulus involved in visual perception (GO:0050908)|negative regulation of signal transduction (GO:0009968)|phototransduction, visible light (GO:0007603)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)	integral component of membrane (GO:0016021)				central_nervous_system(1)|lung(2)	3	Esophageal squamous(110;0.137)					AGGAGCTGCAAAAGACGCGCC	0.706																																						ENST00000334176.3																			0				central_nervous_system(1)|lung(2)	3						c.(121-123)caA>caG		regulator of G protein signaling 9 binding protein							19	17	17					19																	33167292		2163	4246	6409	SO:0001819	synonymous_variant	388531				negative regulation of signal transduction	integral to membrane		g.chr19:33167292A>G	AW302149	CCDS12424.1	19q13.11	2008-02-05	2007-08-14			ENSG00000186326			30304	protein-coding gene	gene with protein product		607814	"regulator of G protein signalling 9 binding protein"			12119397, 8889548	Standard	NM_207391		Approved	FLJ45744, PERRS, R9AP, RGS9	uc002ntp.1	Q6ZS82		ENST00000334176.3:c.123A>G	19.37:g.33167292A>G							p.Q41Q	NM_207391.2	NP_997274.2	Q6ZS82	R9BP_HUMAN			1	980	+	Esophageal squamous(110;0.137)		41					Q6ZVJ6	Silent	SNP	ENST00000334176.3	37	c.123A>G	CCDS12424.1																																																																																				0.706	RGS9BP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450337.1	NM_207391		7	13	0	0	0	1	0	7	13					G	33167292	A	G	33167292	2	3	333	1	0	0	0	0	0	0	0	1	13314	11	1	4		4	RGS9BP	19	33167292	Silent	SNP	A	TCGA-KK-A8I5-01A-11D-A364-08		33167292	25961691	35	16946											
FCGBP	8857	broad.mit.edu	37	chr19	40354448	40354448	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctggacccctgccttctggcGgactagcagggagccatcag	7	7	13	14	1	2	0	1	0	1	0	2	3	2	3	4	4	3	1	4	4	1	2	rs145000879	byFrequency	TCGA-KK-A8I5-01A-11D-A364-08	TCGA-KK-A8I5-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b87ca7d-24d1-4192-8562-96b302bb907f	f4eca61d-ecdb-483b-bfe1-b1dfd5db648b	g.chr19:40354448G>A	ENST00000221347.6	-	35	16028	c.16021C>T	c.(16021-16023)Cgc>Tgc	p.R5341C		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	5341	VWFD 13. {ECO:0000255|PROSITE- ProRule:PRU00580}.					extracellular vesicular exosome (GO:0070062)				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			GCCTTCTGGCGGACTAGCAGG	0.582																																						ENST00000221347.6																			0				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165						c.(16021-16023)Cgc>Tgc		Fc fragment of IgG binding protein		G	CYS/ARG	2,4404	4.2+/-10.8	0,2,2201	55	45	48		16021	-2.7	0	19	dbSNP_134	48	0,8600		0,0,4300	yes	missense	FCGBP	NM_003890.2	180	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	probably-damaging	5341/5406	40354448	2,13004	2203	4300	6503	SO:0001583	missense	8857					extracellular region	protein binding	g.chr19:40354448G>A	D84239		19q13.2	2013-09-20			ENSG00000090920	ENSG00000275395			13572	protein-coding gene	gene with protein product	"IgG Fc binding protein", "Human Fc gamma BP"					9182547	Standard	NM_003890		Approved	FC(GAMMA)BP	uc002omp.4	Q9Y6R7	OTTHUMG00000182580	ENST00000221347.6:c.16021C>T	19.37:g.40354448G>A	ENSP00000221347:p.Arg5341Cys						p.R5341C	NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)		35	16028	-	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		5341			VWFD 13.		O95784	Missense_Mutation	SNP	ENST00000221347.6	37	c.16021C>T	CCDS12546.1	.	.	.	.	.	.	.	.	.	.	G	17.10	3.303832	0.60305	4.54E-4	0.0	ENSG00000090920	ENST00000221347	T	0.60171	0.21	5.88	-2.67	0.06059	von Willebrand factor, type D domain (3);	1.135460	0.06863	U	0.799503	T	0.62441	0.2428	L	0.43152	1.355	0.09310	N	1	D	0.71674	0.998	D	0.67725	0.953	T	0.56420	-0.7982	10	0.56958	D	0.05	.	6.0813	0.19942	0.0676:0.1127:0.2442:0.5755	.	5341	Q9Y6R7	FCGBP_HUMAN	C	5341	ENSP00000221347:R5341C	ENSP00000221347:R5341C	R	-	1	0	FCGBP	45046288	0.000000	0.05858	0.017000	0.16124	0.900000	0.52787	-0.074000	0.11450	-0.177000	0.10690	0.591000	0.81541	CGC		0.582	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462507.1	NM_003890		11	10	0	0	0	1	0	11	10					A	40354448	G	A	40354448	3	1	333	1	0	0	0	0	1	0	0	0	5778	1116	39	2	204	2	FCGBP	19	40354448	Missense_Mutation	SNP	G	TCGA-KK-A8I5-01A-11D-A364-08	7187156	40354448	18774535	36	16947											
CYP2B6	1555	broad.mit.edu	37	chr19	41510021	41510021	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggacaaggctgaggccttctCtggccggggaaaaatcgcca	10	6	14	11	2	1	1	0	1	1	0	3	3	1	3	3	6	0	1	3	6	3	1	rs144760726	byFrequency	TCGA-KK-A8I5-01A-11D-A364-08	TCGA-KK-A8I5-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b87ca7d-24d1-4192-8562-96b302bb907f	f4eca61d-ecdb-483b-bfe1-b1dfd5db648b	g.chr19:41510021C>A	ENST00000324071.4	+	2	294	c.287C>A	c.(286-288)tCt>tAt	p.S96Y	CYP2B6_ENST00000593831.1_Missense_Mutation_p.S20Y|CYP2B6_ENST00000330446.5_Missense_Mutation_p.S56Y|CYP2B6_ENST00000598834.1_3'UTR	NM_000767.4	NP_000758.1	P20813	CP2B6_HUMAN	cytochrome P450, family 2, subfamily B, polypeptide 6	96					cellular ketone metabolic process (GO:0042180)|drug metabolic process (GO:0017144)|exogenous drug catabolic process (GO:0042738)|oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen (GO:0016712)			NS(1)|breast(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	28			LUSC - Lung squamous cell carcinoma(20;0.00322)		Amitriptyline(DB00321)|Amlodipine(DB00381)|Amprenavir(DB00701)|Antipyrine(DB01435)|Artemether(DB06697)|Atorvastatin(DB01076)|Azelastine(DB00972)|Benzphetamine(DB00865)|Benzyl alcohol(DB06770)|Bifonazole(DB04794)|Brompheniramine(DB00835)|Bupropion(DB01156)|Carbamazepine(DB00564)|Carbinoxamine(DB00748)|Cholecalciferol(DB00169)|Cinnarizine(DB00568)|Cisapride(DB00604)|Cisplatin(DB00515)|Citalopram(DB00215)|Clobazam(DB00349)|Clofibrate(DB00636)|Clopidogrel(DB00758)|Clotiazepam(DB01559)|Clotrimazole(DB00257)|Colchicine(DB01394)|Cyclophosphamide(DB00531)|Desipramine(DB01151)|Dexamethasone(DB01234)|Dextromethorphan(DB00514)|Diazepam(DB00829)|Diclofenac(DB00586)|Diphenhydramine(DB01075)|Domperidone(DB01184)|Doxorubicin(DB00997)|Efavirenz(DB00625)|Enzalutamide(DB08899)|Epinastine(DB00751)|Erythromycin(DB00199)|Estrone(DB00655)|Ethanol(DB00898)|Ethylmorphine(DB01466)|Flunarizine(DB04841)|Flunitrazepam(DB01544)|Fluoxetine(DB00472)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Fosphenytoin(DB01320)|Halothane(DB01159)|Ifosfamide(DB01181)|Imipramine(DB00458)|Irinotecan(DB00762)|Isoflurane(DB00753)|Itraconazole(DB01167)|Ketamine(DB01221)|Ketobemidone(DB06738)|Ketoconazole(DB01026)|Lidocaine(DB00281)|Loperamide(DB00836)|Lopinavir(DB01601)|Lorcaserin(DB04871)|Malathion(DB00772)|Memantine(DB01043)|Methadone(DB00333)|Methimazole(DB00763)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyltestosterone(DB06710)|Mexiletine(DB00379)|Mianserin(DB06148)|Miconazole(DB01110)|Midazolam(DB00683)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicardipine(DB00622)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nitric Oxide(DB00435)|Orphenadrine(DB01173)|Ospemifene(DB04938)|Paroxetine(DB00715)|Perhexiline(DB01074)|Permethrin(DB04930)|Perphenazine(DB00850)|Pethidine(DB00454)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Prasugrel(DB06209)|Primidone(DB00794)|Promethazine(DB01069)|Propofol(DB00818)|Quinidine(DB00908)|Raloxifene(DB00481)|Regorafenib(DB08896)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Ritonavir(DB00503)|Ropivacaine(DB00296)|Roxithromycin(DB00778)|Selegiline(DB01037)|Sertraline(DB01104)|Sevoflurane(DB01236)|Simvastatin(DB00641)|Sorafenib(DB00398)|Sulfaphenazole(DB06729)|Sulfinpyrazone(DB01138)|Tamoxifen(DB00675)|Temazepam(DB00231)|Testosterone(DB00624)|Thiotepa(DB04572)|Ticlopidine(DB00208)|Tramadol(DB00193)|Tretinoin(DB00755)|Valproic Acid(DB00313)|Venlafaxine(DB00285)|Verapamil(DB00661)	GAGGCCTTCTCTGGCCGGGGA	0.637																																						ENST00000324071.4																			0				NS(1)|breast(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	28						c.(286-288)tCt>tAt		cytochrome P450, family 2, subfamily B, polypeptide 6	Bupropion(DB01156)|Butalbital(DB00241)|Carbamazepine(DB00564)|Clopidogrel(DB00758)|Cyclophosphamide(DB00531)|Efavirenz(DB00625)|Ifosfamide(DB01181)|Memantine(DB01043)|Meperidine(DB00454)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Midazolam(DB00683)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicotine(DB00184)|Orphenadrine(DB01173)|Phenytoin(DB00252)|Propofol(DB00818)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Ticlopidine(DB00208)|Troleandomycin(DB01361)						82	83	83					19																	41510021		2203	4300	6503	SO:0001583	missense	1555				cellular ketone metabolic process|exogenous drug catabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding	g.chr19:41510021C>A	AF182277	CCDS12570.1	19q13.2	2013-07-25	2003-01-14		ENSG00000197408	ENSG00000197408		"Cytochrome P450s"	2615	protein-coding gene	gene with protein product		123930	"cytochrome P450, subfamily IIB (phenobarbital-inducible), polypeptide 6", "cytochrome P450, family 2, subfamily B", "cytochrome P450, subfamily IIB (phenobarbital-inducible)"	CYP2B		7668294, 15128046	Standard	NM_000767		Approved	CPB6, CYPIIB6	uc002opr.1	P20813	OTTHUMG00000182714	ENST00000324071.4:c.287C>A	19.37:g.41510021C>A	ENSP00000324648:p.Ser96Tyr					CYP2B6_ENST00000598834.1_3'UTR|CYP2B6_ENST00000593831.1_Missense_Mutation_p.S20Y|CYP2B6_ENST00000330446.5_Missense_Mutation_p.S56Y	p.S96Y	NM_000767.4	NP_000758.1	P20813	CP2B6_HUMAN	LUSC - Lung squamous cell carcinoma(20;0.00322)		2	294	+			96					B4DWP3|Q2V565|Q9UK46	Missense_Mutation	SNP	ENST00000324071.4	37	c.287C>A	CCDS12570.1	.	.	.	.	.	.	.	.	.	.	.	17.83	3.485663	0.63962	.	.	ENSG00000197408	ENST00000324071;ENST00000330446	T;T	0.71103	-0.54;-0.54	4.15	1.79	0.24919	.	0.525989	0.19979	N	0.101816	D	0.87378	0.6162	H	0.96015	3.755	0.23923	N	0.996458	D;D	0.89917	1.0;1.0	D;D	0.87578	0.994;0.998	T	0.78425	-0.2209	10	0.87932	D	0	.	11.2857	0.49220	0.0:0.4851:0.5149:0.0	.	56;96	B4DWP3;P20813	.;CP2B6_HUMAN	Y	96;56	ENSP00000324648:S96Y;ENSP00000330650:S56Y	ENSP00000324648:S96Y	S	+	2	0	CYP2B6	46201861	0.001000	0.12720	0.793000	0.32043	0.362000	0.29581	0.014000	0.13333	0.973000	0.38340	0.472000	0.43445	TCT		0.637	CYP2B6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463260.1	NM_000767		10	49	1	0	2.17888e-05	1	2.21923e-05	10	49					A	41510021	C	A	41510021	3	1	333	1	0	0	0	0	1	0	0	0	4164	913	32	5	293	5	CYP2B6	19	41510021	Missense_Mutation	SNP	C	TCGA-KK-A8I5-01A-11D-A364-08	1155573	41510021	17618962	37	16948											
PIH1D1	55011	broad.mit.edu	37	chr19	49949662	49949662	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	agaaggcaccggcagaagcgGcatggccaccattaattgct	12	6	12	11	2	0	2	0	0	0	2	0	2	0	2	3	4	2	4	3	4	3	2			TCGA-KK-A8I5-01A-11D-A364-08	TCGA-KK-A8I5-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b87ca7d-24d1-4192-8562-96b302bb907f	f4eca61d-ecdb-483b-bfe1-b1dfd5db648b	g.chr19:49949662G>A	ENST00000262265.5	-	9	1085	c.850C>T	c.(850-852)Ccg>Tcg	p.P284S	PIH1D1_ENST00000596049.1_Missense_Mutation_p.P284S|PIH1D1_ENST00000602226.1_5'UTR	NM_017916.2	NP_060386.1	Q9NWS0	PIHD1_HUMAN	PIH1 domain containing 1	284					box C/D snoRNP assembly (GO:0000492)|epithelial cell differentiation (GO:0030855)	pre-snoRNP complex (GO:0070761)				NS(1)|breast(1)|kidney(1)|large_intestine(2)|lung(5)|urinary_tract(1)	11		all_lung(116;5.39e-06)|Lung NSC(112;1.97e-05)|all_neural(266;0.0966)|Ovarian(192;0.15)		OV - Ovarian serous cystadenocarcinoma(262;0.00152)|GBM - Glioblastoma multiforme(486;0.0244)		GGCAGAAGCGGCATGGCCACC	0.522																																						ENST00000262265.5																			0				NS(1)|breast(1)|kidney(1)|large_intestine(2)|lung(5)|urinary_tract(1)	11						c.(850-852)Ccg>Tcg		PIH1 domain containing 1							60	58	59					19																	49949662		2203	4300	6503	SO:0001583	missense	55011				box C/D snoRNP assembly	pre-snoRNP complex		g.chr19:49949662G>A	AK000650	CCDS12765.1	19q13.33	2012-07-18	2007-01-31	2007-01-31	ENSG00000104872	ENSG00000104872			26075	protein-coding gene	gene with protein product		611480		NOP17		12477932	Standard	NM_017916		Approved	FLJ20643	uc002pns.2	Q9NWS0		ENST00000262265.5:c.850C>T	19.37:g.49949662G>A	ENSP00000262265:p.Pro284Ser					PIH1D1_ENST00000602226.1_5'UTR|PIH1D1_ENST00000596049.1_Missense_Mutation_p.P284S	p.P284S	NM_017916.2	NP_060386.1	Q9NWS0	PIHD1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00152)|GBM - Glioblastoma multiforme(486;0.0244)	9	1085	-		all_lung(116;5.39e-06)|Lung NSC(112;1.97e-05)|all_neural(266;0.0966)|Ovarian(192;0.15)	284					B4DGN7|B4E2X7|Q9BVL0	Missense_Mutation	SNP	ENST00000262265.5	37	c.850C>T	CCDS12765.1	.	.	.	.	.	.	.	.	.	.	G	15.87	2.960942	0.53400	.	.	ENSG00000104872	ENST00000262265	T	0.22336	1.96	3.32	3.32	0.38043	.	0.000000	0.64402	D	0.000001	T	0.42108	0.1188	M	0.72894	2.215	0.43913	D	0.996559	D	0.89917	1.0	D	0.87578	0.998	T	0.37174	-0.9717	10	0.87932	D	0	-15.3748	10.4412	0.44466	0.0:0.0:1.0:0.0	.	284	Q9NWS0	PIHD1_HUMAN	S	284	ENSP00000262265:P284S	ENSP00000262265:P284S	P	-	1	0	PIH1D1	54641474	1.000000	0.71417	1.000000	0.80357	0.706000	0.40770	4.063000	0.57499	2.168000	0.68352	0.655000	0.94253	CCG		0.522	PIH1D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465389.2	NM_017916		3	32	0	0	0	1	0	3	32					A	49949662	G	A	49949662	3	1	333	1	0	0	0	0	1	0	0	0	11906	1203	42	3	26	3	PIH1D1	19	49949662	Missense_Mutation	SNP	G	TCGA-KK-A8I5-01A-11D-A364-08	8439641	49949662	9179321	38	16949											
SHANK1	50944	broad.mit.edu	37	chr19	51219610	51219610	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctccaggaagttggcatcGcggccggaggtggccggttg	5	8	17	11	4	0	0	0	0	0	0	3	2	2	2	4	7	0	3	4	7	1	2	rs377430056		TCGA-KK-A8I5-01A-11D-A364-08	TCGA-KK-A8I5-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b87ca7d-24d1-4192-8562-96b302bb907f	f4eca61d-ecdb-483b-bfe1-b1dfd5db648b	g.chr19:51219610G>A	ENST00000293441.1	-	2	399	c.381C>T	c.(379-381)cgC>cgT	p.R127R	SHANK1_ENST00000391814.1_Silent_p.R127R|SHANK1_ENST00000359082.3_Silent_p.R127R	NM_016148.2	NP_057232.2	Q9Y566	SHAN1_HUMAN	SH3 and multiple ankyrin repeat domains 1	127					adult behavior (GO:0030534)|associative learning (GO:0008306)|cytoskeletal anchoring at plasma membrane (GO:0007016)|dendritic spine morphogenesis (GO:0060997)|determination of affect (GO:0050894)|habituation (GO:0046959)|long-term memory (GO:0007616)|negative regulation of actin filament bundle assembly (GO:0032232)|neuromuscular process controlling balance (GO:0050885)|olfactory behavior (GO:0042048)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|protein complex assembly (GO:0006461)|protein localization to synapse (GO:0035418)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|righting reflex (GO:0060013)|social behavior (GO:0035176)|synapse maturation (GO:0060074)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|excitatory synapse (GO:0060076)|intracellular (GO:0005622)|membrane (GO:0016020)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	ankyrin repeat binding (GO:0071532)|GKAP/Homer scaffold activity (GO:0030160)|identical protein binding (GO:0042802)|ionotropic glutamate receptor binding (GO:0035255)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|scaffold protein binding (GO:0097110)|SH3 domain binding (GO:0017124)|somatostatin receptor binding (GO:0031877)			breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		AGTTGGCATCGCGGCCGGAGG	0.632																																						ENST00000293441.1																			0				breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64						c.(379-381)cgC>cgT		SH3 and multiple ankyrin repeat domains 1				0,4406		0,0,2203	48	52	51		381	-5.6	0	19		51	2,8598		0,2,4298	no	coding-synonymous	SHANK1	NM_016148.2		0,2,6501	AA,AG,GG		0.0233,0.0,0.0154		127/2162	51219610	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	50944				cytoskeletal anchoring at plasma membrane	cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane	ionotropic glutamate receptor binding	g.chr19:51219610G>A	AF163302	CCDS12799.1	19q13.3	2013-01-10			ENSG00000161681	ENSG00000161681		"Sterile alpha motif (SAM) domain containing", "Ankyrin repeat domain containing"	15474	protein-coding gene	gene with protein product	"somatostatin receptor-interacting protein"	604999				10551867	Standard	NM_016148		Approved	SSTRIP, SPANK-1, synamon	uc002psx.1	Q9Y566	OTTHUMG00000137380	ENST00000293441.1:c.381C>T	19.37:g.51219610G>A						SHANK1_ENST00000359082.3_Silent_p.R127R|SHANK1_ENST00000391814.1_Silent_p.R127R	p.R127R	NM_016148.2	NP_057232.2	Q9Y566	SHAN1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)	2	399	-		all_neural(266;0.057)	127					A8MXP5|B7WNY6|Q9NYW9	Silent	SNP	ENST00000293441.1	37	c.381C>T	CCDS12799.1																																																																																				0.632	SHANK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268071.1	NM_016148		14	37	0	0	0	1	0	14	37					A	51219610	G	A	51219610	2	1	333	1	0	0	0	0	0	0	0	1	14264	1074	38	1		1	SHANK1	19	51219610	Silent	SNP	G	TCGA-KK-A8I5-01A-11D-A364-08	1269948	51219610	7909373	39	16950											
ISOC2	79763	broad.mit.edu	37	chr19	55967760	55967760	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacgatctgtgggaagtaggCgatgttgtggcggaacttct	8	11	16	6	3	2	0	0	0	2	0	2	5	2	2	0	4	1	2	0	4	3	3			TCGA-KK-A8I5-01A-11D-A364-08	TCGA-KK-A8I5-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b87ca7d-24d1-4192-8562-96b302bb907f	f4eca61d-ecdb-483b-bfe1-b1dfd5db648b	g.chr19:55967760C>T	ENST00000425675.2	-	2	154	c.94G>A	c.(94-96)Gcc>Acc	p.A32T	ISOC2_ENST00000085068.3_Missense_Mutation_p.A32T|ISOC2_ENST00000438389.2_Missense_Mutation_p.A32T			Q96AB3	ISOC2_HUMAN	isochorismatase domain containing 2	32					protein destabilization (GO:0031648)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	catalytic activity (GO:0003824)			endometrium(1)|lung(4)|ovary(1)|stomach(1)	7	Breast(117;0.155)		BRCA - Breast invasive adenocarcinoma(297;0.18)|LUSC - Lung squamous cell carcinoma(43;0.193)	GBM - Glioblastoma multiforme(193;0.0535)		GGGAAGTAGGCGATGTTGTGG	0.622																																						ENST00000438389.2																			0				endometrium(1)|lung(4)|ovary(1)|stomach(1)	7						c.(94-96)Gcc>Acc		isochorismatase domain containing 2							178	147	157					19																	55967760		2203	4300	6503	SO:0001583	missense	79763				protein destabilization	mitochondrion|nucleus	catalytic activity|protein binding	g.chr19:55967760C>T	AK027122	CCDS12925.1, CCDS46194.1, CCDS46195.1	19q13.42	2011-07-14			ENSG00000063241	ENSG00000063241			26278	protein-coding gene	gene with protein product		612928				17658461	Standard	NM_024710		Approved	FLJ23469	uc002qla.3	Q96AB3		ENST00000425675.2:c.94G>A	19.37:g.55967760C>T	ENSP00000401726:p.Ala32Thr					ISOC2_ENST00000085068.3_Missense_Mutation_p.A32T|ISOC2_ENST00000425675.2_Missense_Mutation_p.A32T	p.A32T	NM_001136202.1	NP_001129674.1	Q96AB3	ISOC2_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.18)|LUSC - Lung squamous cell carcinoma(43;0.193)	GBM - Glioblastoma multiforme(193;0.0535)	2	928	-	Breast(117;0.155)		0					Q6ZN91|Q9H5G0	Missense_Mutation	SNP	ENST00000425675.2	37	c.94G>A	CCDS46195.1	.	.	.	.	.	.	.	.	.	.	C	6.551	0.470017	0.12461	.	.	ENSG00000063241	ENST00000085068;ENST00000425675;ENST00000438389	.	.	.	4.24	-5.6	0.02497	Isochorismatase-like (3);	0.632453	0.14718	N	0.302509	T	0.16342	0.0393	L	0.33624	1.015	0.09310	N	1	B;B;B	0.21905	0.014;0.062;0.052	B;B;B	0.16722	0.004;0.012;0.016	T	0.17319	-1.0373	9	0.22706	T	0.39	-13.3978	1.3169	0.02109	0.2307:0.4091:0.1197:0.2405	.	32;32;32	Q96AB3-3;Q96AB3;Q96AB3-2	.;ISOC2_HUMAN;.	T	32	.	ENSP00000085068:A32T	A	-	1	0	ISOC2	60659572	0.029000	0.19370	0.000000	0.03702	0.649000	0.38597	-0.062000	0.11674	-0.558000	0.06118	0.484000	0.47621	GCC		0.622	ISOC2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453179.1	NM_024710		7	42	0	0	0	1	0	7	42					T	55967760	C	T	55967760	3	4	333	1	0	0	0	0	1	0	0	0	7863	768	27	1	591	1	ISOC2	19	55967760	Missense_Mutation	SNP	C	TCGA-KK-A8I5-01A-11D-A364-08	4748150	55967760	3161223	40	16951											
PCSK2	5126	broad.mit.edu	37	chr20	17207956	17207956	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cactcccaaagaaggatgaaGggtggttgtgtctcccagtg	10	9	13	9	0	1	2	0	1	1	1	3	3	2	3	2	3	0	1	2	3	3	1			TCGA-KK-A8I5-01A-11D-A364-08	TCGA-KK-A8I5-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b87ca7d-24d1-4192-8562-96b302bb907f	f4eca61d-ecdb-483b-bfe1-b1dfd5db648b	g.chr20:17207956G>C	ENST00000262545.2	+	1	321	c.6G>C	c.(4-6)aaG>aaC	p.K2N	PCSK2_ENST00000377899.1_Intron|PCSK2_ENST00000536609.1_Missense_Mutation_p.K2N	NM_002594.3	NP_002585.2	P16519	NEC2_HUMAN	proprotein convertase subtilisin/kexin type 2	2					cellular protein metabolic process (GO:0044267)|embryo development (GO:0009790)|enkephalin processing (GO:0034230)|insulin processing (GO:0030070)|islet amyloid polypeptide processing (GO:0034231)|nervous system development (GO:0007399)|protein autoprocessing (GO:0016540)|proteolysis (GO:0006508)	dendrite (GO:0030425)|extracellular space (GO:0005615)|membrane (GO:0016020)|perikaryon (GO:0043204)|secretory granule lumen (GO:0034774)	serine-type endopeptidase activity (GO:0004252)			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|lung(17)|ovary(3)|pancreas(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	53					"""Insulin(DB00071)|Insulin Regular(DB00030)"	GAAGGATGAAGGGTGGTTGTG	0.532																																						ENST00000262545.2																			0				breast(2)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|lung(17)|ovary(3)|pancreas(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	53						c.(4-6)aaG>aaC		proprotein convertase subtilisin/kexin type 2	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)						77	82	80					20																	17207956		2203	4300	6503	SO:0001583	missense	5126				enkephalin processing|insulin processing|islet amyloid polypeptide processing	extracellular space|membrane|soluble fraction|transport vesicle	serine-type endopeptidase activity	g.chr20:17207956G>C	AK312341	CCDS13125.1, CCDS56179.1, CCDS56180.1	20p11.2	2008-08-01			ENSG00000125851	ENSG00000125851			8744	protein-coding gene	gene with protein product	"neuroendocrine convertase 2", "KEX2-like endoprotease 2"	162151		NEC2		1765368	Standard	NM_001201528		Approved	PC2, SPC2	uc002wpm.3	P16519	OTTHUMG00000031941	ENST00000262545.2:c.6G>C	20.37:g.17207956G>C	ENSP00000262545:p.Lys2Asn					PCSK2_ENST00000536609.1_Missense_Mutation_p.K2N|PCSK2_ENST00000377899.1_Intron	p.K2N	NM_002594.3	NP_002585.2	P16519	NEC2_HUMAN			1	321	+			2					B1ANH9|B4DFQ3|Q14927|Q5JYQ1|Q8IWA8|Q9NQG3|Q9NUG1|Q9UJC6	Missense_Mutation	SNP	ENST00000262545.2	37	c.6G>C	CCDS13125.1	.	.	.	.	.	.	.	.	.	.	G	12.87	2.067639	0.36470	.	.	ENSG00000125851	ENST00000262545;ENST00000536609	T;T	0.73152	-0.45;-0.72	5.4	4.41	0.53225	.	1.022020	0.07850	U	0.964429	T	0.50154	0.1599	N	0.08118	0	0.23661	N	0.997176	B;B	0.27498	0.032;0.18	B;B	0.24974	0.018;0.057	T	0.41698	-0.9494	10	0.40728	T	0.16	-9.7843	6.2245	0.20700	0.1823:0.0:0.8177:0.0	.	2;2	B4DFQ3;P16519	.;NEC2_HUMAN	N	2	ENSP00000262545:K2N;ENSP00000437458:K2N	ENSP00000262545:K2N	K	+	3	2	PCSK2	17155956	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.125000	0.50469	1.127000	0.42034	0.655000	0.94253	AAG		0.532	PCSK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078120.2	NM_002594		9	38	0	0	0	1	0	9	38					C	17207956	G	C	17207956	3	2	333	1	0	0	0	0	1	0	0	0	11601	991	35	5	8	5	PCSK2	20	17207956	Missense_Mutation	SNP	G	TCGA-KK-A8I5-01A-11D-A364-08		17207956	45817564	41	16952											
C20orf186	149954	broad.mit.edu	37	chr20	31680313	31680313	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	catcgactacccattggggtGgccagctgtgtctcccaagc	7	9	11	14	1	1	0	0	0	1	0	3	1	1	0	3	3	3	1	3	3	2	2			TCGA-KK-A8I5-01A-11D-A364-08	TCGA-KK-A8I5-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b87ca7d-24d1-4192-8562-96b302bb907f	f4eca61d-ecdb-483b-bfe1-b1dfd5db648b	g.chr20:31680313G>T	ENST00000375483.3	+	9	1193	c.1193G>T	c.(1192-1194)tGg>tTg	p.W398L		NM_182519.2	NP_872325.2	P59827	BPIB4_HUMAN	BPI fold containing family B, member 4	398						cytoplasm (GO:0005737)|extracellular region (GO:0005576)	lipid binding (GO:0008289)										CCATTGGGGTGGCCAGCTGTG	0.597																																						ENST00000375483.3																			0											c.(1192-1194)tGg>tTg		BPI fold containing family B, member 4							60	54	56					20																	31680313		2203	4300	6503	SO:0001583	missense	149954					cytoplasm|extracellular region	lipid binding	g.chr20:31680313G>T	AF549190	CCDS13213.2	20q11.21	2011-08-04	2011-07-29	2011-07-29	ENSG00000186191	ENSG00000186191		"BPI fold containing"	16179	protein-coding gene	gene with protein product		615718	"chromosome 20 open reading frame 186"	C20orf186		11971875, 21787333	Standard	NM_182519		Approved	dJ726C3.5, LPLUNC4	uc010zue.2	P59827	OTTHUMG00000032235	ENST00000375483.3:c.1193G>T	20.37:g.31680313G>T	ENSP00000364632:p.Trp398Leu						p.W398L	NM_182519.2	NP_872325.2	P59827	LPLC4_HUMAN			9	1193	+			398					Q5TDX6	Missense_Mutation	SNP	ENST00000375483.3	37	c.1193G>T	CCDS13213.2	.	.	.	.	.	.	.	.	.	.	G	5.767	0.325964	0.10900	.	.	ENSG00000186191	ENST00000375483	T	0.06449	3.3	5.35	5.35	0.76521	.	0.547984	0.18507	N	0.139164	T	0.04182	0.0116	N	0.08118	0	0.25229	N	0.989843	B	0.17465	0.022	B	0.16722	0.016	T	0.42481	-0.9449	9	.	.	.	-7.3379	14.9864	0.71351	0.0:0.0:1.0:0.0	.	398	P59827	BPIB4_HUMAN	L	398	ENSP00000364632:W398L	.	W	+	2	0	BPIFB4	31143974	0.687000	0.27671	1.000000	0.80357	0.050000	0.14768	2.029000	0.41098	2.676000	0.91093	0.543000	0.68304	TGG		0.597	BPIFB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078655.5	NM_182519		9	17	1	0	3.09899e-07	1	3.27777e-07	9	17					T	31680313	G	T	31680313	3	4	333	1	0	0	0	0	1	0	0	0	2098	1357	47	5	1227	5	C20orf186	20	31680313	Missense_Mutation	SNP	G	TCGA-KK-A8I5-01A-11D-A364-08	14472357	31680313	31345207	42	16953											
TMEM31	203562	broad.mit.edu	37	chrX	102968708	102968708	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tttttgagctttatcctgaaTttcttctggtgtttaaagaa	9	20	7	5	0	2	3	0	2	2	1	3	3	3	3	1	1	1	2	1	1	5	8			TCGA-KK-A8I5-01A-11D-A364-08	TCGA-KK-A8I5-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b87ca7d-24d1-4192-8562-96b302bb907f	f4eca61d-ecdb-483b-bfe1-b1dfd5db648b	g.chrX:102968708T>A	ENST00000319560.6	+	3	480	c.289T>A	c.(289-291)Ttt>Att	p.F97I	GLRA4_ENST00000372617.4_Intron	NM_182541.2	NP_872347.2	Q5JXX7	TMM31_HUMAN	transmembrane protein 31	97						integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)	7						TTATCCTGAATTTCTTCTGGT	0.463																																						ENST00000319560.6																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)	7						c.(289-291)Ttt>Att		transmembrane protein 31							246	196	213					X																	102968708		2203	4300	6503	SO:0001583	missense	203562					integral to membrane		g.chrX:102968708T>A	BC029575	CCDS35359.1	Xq22.2	2008-02-05			ENSG00000179363	ENSG00000179363			28601	protein-coding gene	gene with protein product						12477932	Standard	NM_182541		Approved	MGC39655	uc004elh.3	Q5JXX7	OTTHUMG00000022109	ENST00000319560.6:c.289T>A	X.37:g.102968708T>A	ENSP00000316940:p.Phe97Ile					GLRA4_ENST00000372617.4_Intron	p.F97I	NM_182541.2	NP_872347.2	Q5JXX7	TMM31_HUMAN			3	480	+			97					Q8NHR4	Missense_Mutation	SNP	ENST00000319560.6	37	c.289T>A	CCDS35359.1	.	.	.	.	.	.	.	.	.	.	T	8.904	0.957011	0.18507	.	.	ENSG00000179363	ENST00000319560	.	.	.	4.69	0.51	0.16983	.	0.427699	0.17482	N	0.172690	T	0.15262	0.0368	N	0.08118	0	0.09310	N	0.999997	B	0.29432	0.244	B	0.24848	0.056	T	0.14090	-1.0485	9	0.87932	D	0	-0.8495	4.2041	0.10480	0.3732:0.0:0.1794:0.4475	.	97	Q5JXX7	TMM31_HUMAN	I	97	.	ENSP00000316940:F97I	F	+	1	0	TMEM31	102855364	0.001000	0.12720	0.022000	0.16811	0.036000	0.12997	-0.147000	0.10234	-0.104000	0.12154	0.481000	0.45027	TTT		0.463	TMEM31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057741.1	NM_182541		18	34	0	0	0	1	0	18	34					A	102968708	T	A	102968708	3	1	333	1	0	0	0	0	1	0	0	0	16152	1493	52	5	295	5	TMEM31	23	102968708	Missense_Mutation	SNP	T	TCGA-KK-A8I5-01A-11D-A364-08		102968708	52301852	43	16954											
CLCA2	9635	broad.mit.edu	37	chr1	86898058	86898058	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttccatttttaggtgttcAtctgacatcacaggcatttt	8	18	6	9	0	3	1	2	1	1	0	4	1	4	1	1	2	0	2	1	2	1	7	rs141878978	byFrequency	TCGA-KK-A8I6-01A-11D-A364-08	TCGA-KK-A8I6-11A-12D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b09465a0-6766-4401-8ab3-1f7b0ba892cd	05ab92d0-9cba-4cd0-9f18-31dd0ef37394	g.chr1:86898058A>G	ENST00000370565.4	+	5	753	c.591A>G	c.(589-591)tcA>tcG	p.S197S		NM_006536.5	NP_006527.1	Q9UQC9	CLCA2_HUMAN	chloride channel accessory 2	197	Metalloprotease domain. {ECO:0000250|UniProtKB:A8K7I4}.				cell adhesion (GO:0007155)|transport (GO:0006810)	cell junction (GO:0030054)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	chloride channel activity (GO:0005254)|ligand-gated ion channel activity (GO:0015276)			NS(2)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	42		Lung NSC(277;0.238)		all cancers(265;0.0233)|Epithelial(280;0.0452)		TTAGGTGTTCATCTGACATCA	0.333																																					Melanoma(157;1000 1898 5363 5664 48018)|Ovarian(88;135 1366 2838 28875 34642)	ENST00000370565.4																			0				NS(2)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	42						c.(589-591)tcA>tcG		chloride channel accessory 2		A		0,4406		0,0,2203	126	127	127		591	2.7	1	1	dbSNP_134	127	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	CLCA2	NM_006536.5		0,2,6501	GG,GA,AA		0.0233,0.0,0.0154		197/944	86898058	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	9635				cell adhesion	basal plasma membrane|cell junction|extracellular region|integral to plasma membrane	chloride channel activity	g.chr1:86898058A>G		CCDS708.1	1p22.3	2012-02-26	2009-01-29		ENSG00000137975	ENSG00000137975			2016	protein-coding gene	gene with protein product		604003	"chloride channel, calcium activated, family member 2", "chloride channel regulator 2"				Standard	NM_006536		Approved	CLCRG2	uc001dlr.4	Q9UQC9	OTTHUMG00000010256	ENST00000370565.4:c.591A>G	1.37:g.86898058A>G							p.S197S	NM_006536.5	NP_006527.1	Q9UQC9	CLCA2_HUMAN		all cancers(265;0.0233)|Epithelial(280;0.0452)	5	753	+		Lung NSC(277;0.238)	197					A8K2T3|Q9Y6N2	Silent	SNP	ENST00000370565.4	37	c.591A>G	CCDS708.1																																																																																				0.333	CLCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028284.1	NM_006536		7	87	0	0	0	1	0	7	87					G	86898058	A	G	86898058	2	3	334	1	0	0	0	0	0	0	0	1	3458	204	8	4		4	CLCA2	1	86898058	Silent	SNP	A	TCGA-KK-A8I6-01A-11D-A364-08		86898058	162352563	1	16955											
SPR	6697	broad.mit.edu	37	chr2	73115592	73115592	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcctggcctcaacagaaccGtggttaacatctcgtccctc	8	10	8	15	2	2	1	1	0	1	1	6	1	4	1	4	2	3	1	4	2	3	1	rs373408326		TCGA-KK-A8I6-01A-11D-A364-08	TCGA-KK-A8I6-11A-12D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b09465a0-6766-4401-8ab3-1f7b0ba892cd	05ab92d0-9cba-4cd0-9f18-31dd0ef37394	g.chr2:73115592G>A	ENST00000234454.5	+	2	527	c.454G>A	c.(454-456)Gtg>Atg	p.V152M	SPR_ENST00000498749.1_3'UTR	NM_003124.4	NP_003115.1	P35270	SPRE_HUMAN	sepiapterin reductase (7,8-dihydrobiopterin:NADP+ oxidoreductase)	152					cell morphogenesis involved in neuron differentiation (GO:0048667)|death (GO:0016265)|dopamine metabolic process (GO:0042417)|L-phenylalanine metabolic process (GO:0006558)|nitric oxide biosynthetic process (GO:0006809)|nitric oxide metabolic process (GO:0046209)|norepinephrine metabolic process (GO:0042415)|oxidation-reduction process (GO:0055114)|pteridine metabolic process (GO:0019889)|regulation of multicellular organism growth (GO:0040014)|regulation of nitric-oxide synthase activity (GO:0050999)|serotonin metabolic process (GO:0042428)|small molecule metabolic process (GO:0044281)|tetrahydrobiopterin biosynthetic process (GO:0006729)|voluntary musculoskeletal movement (GO:0050882)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	aldo-keto reductase (NADP) activity (GO:0004033)|NADP binding (GO:0050661)|sepiapterin reductase activity (GO:0004757)			lung(4)|ovary(2)	6						CAACAGAACCGTGGTTAACAT	0.562											OREG0014704	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000234454.5																			0				lung(4)|ovary(2)	6						c.(454-456)Gtg>Atg		sepiapterin reductase (7,8-dihydrobiopterin:NADP+ oxidoreductase)		G	MET/VAL	0,4406		0,0,2203	162	141	148		454	5.6	1	2		148	1,8599	1.2+/-3.3	0,1,4299	no	missense	SPR	NM_003124.4	21	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	152/262	73115592	1,13005	2203	4300	6503	SO:0001583	missense	6697				nitric oxide biosynthetic process|tetrahydrobiopterin biosynthetic process	cytoplasm	aldo-keto reductase (NADP) activity|NADP binding|sepiapterin reductase activity	g.chr2:73115592G>A		CCDS1920.1	2p14-p12	2013-06-03			ENSG00000116096	ENSG00000116096	1.1.1.153	"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"	11257	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 38C, member 1"	182125				1883349, 19027726	Standard	NM_003124		Approved	SDR38C1	uc002sik.2	P35270	OTTHUMG00000129777	ENST00000234454.5:c.454G>A	2.37:g.73115592G>A	ENSP00000234454:p.Val152Met		OREG0014704	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1142	SPR_ENST00000498749.1_3'UTR	p.V152M	NM_003124.4	NP_003115.1	P35270	SPRE_HUMAN			2	527	+			152					A8K741|D6W5H2|Q53GI9|Q9UBB1	Missense_Mutation	SNP	ENST00000234454.5	37	c.454G>A	CCDS1920.1	.	.	.	.	.	.	.	.	.	.	G	18.30	3.593992	0.66219	0.0	1.16E-4	ENSG00000116096	ENST00000234454	D	0.92495	-3.05	5.62	5.62	0.85841	NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.95395	0.8505	M	0.84082	2.675	0.80722	D	1	D	0.65815	0.995	P	0.56088	0.791	D	0.95466	0.8547	10	0.59425	D	0.04	-22.0659	18.2235	0.89909	0.0:0.0:1.0:0.0	.	152	P35270	SPRE_HUMAN	M	152	ENSP00000234454:V152M	ENSP00000234454:V152M	V	+	1	0	SPR	72969100	1.000000	0.71417	0.951000	0.38953	0.312000	0.27988	6.349000	0.73013	2.648000	0.89879	0.561000	0.74099	GTG		0.562	SPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251993.2			4	75	0	0	0	1	0	4	75					A	73115592	G	A	73115592	3	1	334	1	0	0	0	0	1	0	0	0	15090	1145	40	1	460	1	SPR	2	73115592	Missense_Mutation	SNP	G	TCGA-KK-A8I6-01A-11D-A364-08		73115592	170083781	2	16956											
LRP1B	53353	broad.mit.edu	37	chr2	141232707	141232707	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atttatgttactggaccaacCtttgtgtctatgagatccat	10	16	7	8	0	1	1	0	1	1	1	2	3	2	2	3	1	2	1	3	1	4	5	rs77794732		TCGA-KK-A8I6-01A-11D-A364-08	TCGA-KK-A8I6-11A-12D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b09465a0-6766-4401-8ab3-1f7b0ba892cd	05ab92d0-9cba-4cd0-9f18-31dd0ef37394	g.chr2:141232707C>T	ENST00000389484.3	-	60	10596	c.9625G>A	c.(9625-9627)Gtc>Atc	p.V3209I		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	3209					protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)	p.V3209F(2)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CTGGACCAACCTTTGTGTCTA	0.289										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	ENST00000389484.3																			2	Substitution - Missense(2)	p.V3209F(2)	lung(2)	NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606						c.e60+1		low density lipoprotein receptor-related protein 1B							77	73	74					2																	141232707		2203	4299	6502	SO:0001630	splice_region_variant	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141232707C>T	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"Low density lipoprotein receptors"	6693	protein-coding gene	gene with protein product	"LRP-deleted in tumors"	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.9625+1G>A	2.37:g.141232707C>T		TSP Lung(27;0.18)					p.V3209_splice	NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)	60	10596	-		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)	3209					Q8WY29|Q8WY30|Q8WY31	Splice_Site	SNP	ENST00000389484.3	37	c.9625_splice	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	C	19.10	3.762279	0.69763	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	D	0.91295	-2.82	5.72	5.72	0.89469	Six-bladed beta-propeller, TolB-like (1);Growth factor, receptor (1);	0.000000	0.64402	U	0.000003	D	0.93099	0.7803	L	0.39633	1.23	0.58432	D	0.999997	D	0.58970	0.984	D	0.68192	0.956	D	0.91614	0.5305	9	.	.	.	.	19.8807	0.96899	0.0:1.0:0.0:0.0	.	3209	Q9NZR2	LRP1B_HUMAN	I	3209;3147	ENSP00000374135:V3209I	.	V	-	1	0	LRP1B	140949177	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.771000	0.85420	2.704000	0.92352	0.650000	0.86243	GTC		0.289	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557	Missense_Mutation	13	89	0	0	0	1	0	13	89					T	141232707	C	T	141232707	5	4	334	1	0	0	0	0	0	0	1	0	8955	695	24	3	4302	3	LRP1B	2	141232707	Splice_Site	SNP	C	TCGA-KK-A8I6-01A-11D-A364-08	68117115	141232707	101966666	3	16957											
NEB	4703	broad.mit.edu	37	chr2	152381049	152381049	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ctcactggcctgtttggctgCctgtgtggccttcttgatgt	2	16	12	11	0	2	1	1	1	1	0	2	1	2	1	3	3	1	2	3	3	0	3			TCGA-KK-A8I6-01A-11D-A364-08	TCGA-KK-A8I6-11A-12D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b09465a0-6766-4401-8ab3-1f7b0ba892cd	05ab92d0-9cba-4cd0-9f18-31dd0ef37394	g.chr2:152381049C>T	ENST00000172853.10	-	124	17398	c.17251G>A	c.(17251-17253)Gca>Aca	p.A5751T	NEB_ENST00000409198.1_Missense_Mutation_p.A5751T|NEB_ENST00000604864.1_Missense_Mutation_p.A7452T|NEB_ENST00000427231.2_Missense_Mutation_p.A7452T|NEB_ENST00000603639.1_Missense_Mutation_p.A7452T|NEB_ENST00000397345.3_Missense_Mutation_p.A7452T			P20929	NEBU_HUMAN	nebulin	5751					muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		TGTTTGGCTGCCTGTGTGGCC	0.507																																						ENST00000427231.2																			0				NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301						c.(22354-22356)Gca>Aca		nebulin							203	204	204					2																	152381049		2020	4205	6225	SO:0001583	missense	4703				muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle	g.chr2:152381049C>T	X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"nemaline myopathy type 2"	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.17251G>A	2.37:g.152381049C>T	ENSP00000172853:p.Ala5751Thr					NEB_ENST00000603639.1_Missense_Mutation_p.A7452T|NEB_ENST00000172853.10_Missense_Mutation_p.A5751T|NEB_ENST00000604864.1_Missense_Mutation_p.A7452T|NEB_ENST00000397345.3_Missense_Mutation_p.A7452T|NEB_ENST00000409198.1_Missense_Mutation_p.A5751T	p.A7452T	NM_001164507.1	NP_001157979.1	P20929	NEBU_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.219)	152	22556	-			5751					F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Missense_Mutation	SNP	ENST00000172853.10	37	c.22354G>A		.	.	.	.	.	.	.	.	.	.	C	21.9	4.215493	0.79352	.	.	ENSG00000183091	ENST00000409198;ENST00000397345;ENST00000427231;ENST00000397342;ENST00000413693;ENST00000172853	T;T;T;T;T	0.55234	0.53;0.75;0.75;0.53;0.53	5.86	4.98	0.66077	.	0.146213	0.64402	D	0.000009	T	0.50939	0.1645	N	0.11000	0.08	0.80722	D	1	B;B;D	0.64830	0.025;0.168;0.994	B;B;P	0.62885	0.12;0.192;0.908	T	0.54702	-0.8254	10	0.45353	T	0.12	.	14.4013	0.67047	0.0:0.9295:0.0:0.0705	.	5751;7452;2182	P20929;F8WCP0;Q14215	NEBU_HUMAN;.;.	T	5751;7452;7452;1800;2182;5751	ENSP00000386259:A5751T;ENSP00000380505:A7452T;ENSP00000416578:A7452T;ENSP00000410961:A2182T;ENSP00000172853:A5751T	ENSP00000172853:A5751T	A	-	1	0	NEB	152089295	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.058000	0.71126	2.766000	0.95052	0.655000	0.94253	GCA		0.507	NEB-201	KNOWN	basic	protein_coding	protein_coding		NM_004543		4	129	0	0	0	1	0	4	129					T	152381049	C	T	152381049	3	4	334	1	0	0	0	0	1	0	0	0	10302	739	26	3	3347	3	NEB	2	152381049	Missense_Mutation	SNP	C	TCGA-KK-A8I6-01A-11D-A364-08	11148342	152381049	90818324	4	16958											
ABCB11	8647	broad.mit.edu	37	chr2	169826554	169826554	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tggactaagacttccacaaaCcttactcagcacttcttgca	12	11	5	13	0	2	1	1	0	1	1	3	2	3	2	2	1	4	2	2	1	3	5			TCGA-KK-A8I6-01A-11D-A364-08	TCGA-KK-A8I6-11A-12D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b09465a0-6766-4401-8ab3-1f7b0ba892cd	05ab92d0-9cba-4cd0-9f18-31dd0ef37394	g.chr2:169826554C>A	ENST00000263817.6	-	15	1934		c.e15+1			NM_003742.2	NP_003733.2	O95342	ABCBB_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 11						bile acid and bile salt transport (GO:0015721)|bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|canalicular bile acid transport (GO:0015722)|small molecule metabolic process (GO:0044281)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intercellular canaliculus (GO:0046581)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|bile acid-exporting ATPase activity (GO:0015432)|canalicular bile acid transmembrane transporter activity (GO:0015126)|sodium-exporting ATPase activity, phosphorylative mechanism (GO:0008554)|transporter activity (GO:0005215)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(16)|lung(26)|ovary(3)|stomach(1)	57					Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Chlorpromazine(DB00477)|Cimetidine(DB00501)|Clofazimine(DB00845)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dexamethasone(DB01234)|Digoxin(DB00390)|Doxorubicin(DB00997)|Ethinyl Estradiol(DB00977)|Fluorescein(DB00693)|Fusidic Acid(DB02703)|Glyburide(DB01016)|Ketoconazole(DB01026)|Novobiocin(DB01051)|Paclitaxel(DB01229)|Phenobarbital(DB01174)|Ponatinib(DB08901)|Pravastatin(DB00175)|Progesterone(DB00396)|Quinidine(DB00908)|Reserpine(DB00206)|Rifampicin(DB01045)|Rosuvastatin(DB01098)|Tamoxifen(DB00675)|Ursodeoxycholic acid(DB01586)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)	CTTCCACAAACCTTACTCAGC	0.512																																						ENST00000263817.6																			0				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(16)|lung(26)|ovary(3)|stomach(1)	57						c.e15+1		ATP-binding cassette, sub-family B (MDR/TAP), member 11	Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Glibenclamide(DB01016)						176	171	173					2																	169826554		1966	4176	6142	SO:0001630	splice_region_variant	8647				bile acid biosynthetic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|bile acid-exporting ATPase activity|canalicular bile acid transmembrane transporter activity|sodium-exporting ATPase activity, phosphorylative mechanism	g.chr2:169826554C>A	AF091582	CCDS46444.1	2q24	2012-03-14			ENSG00000073734	ENSG00000073734		"ATP binding cassette transporters / subfamily B"	42	protein-coding gene	gene with protein product	"ABC member 16, MDR/TAP subfamily"	603201	"progressive familial intrahepatic cholestasis 2", "bile salt export pump"	BSEP, PFIC2		9806540	Standard	NM_003742		Approved	ABC16, SPGP, PFIC-2, PGY4	uc002ueo.1	O95342	OTTHUMG00000154039	ENST00000263817.6:c.1809+1G>T	2.37:g.169826554C>A								NM_003742.2	NP_003733.2	O95342	ABCBB_HUMAN			15	1934	-								Q53TL2|Q9UNB2	Splice_Site	SNP	ENST00000263817.6	37		CCDS46444.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.060955	0.76074	.	.	ENSG00000073734	ENST00000263817	.	.	.	5.2	5.2	0.72013	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.7022	0.91625	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ABCB11	169534800	1.000000	0.71417	1.000000	0.80357	0.876000	0.50452	7.818000	0.86416	2.409000	0.81822	0.585000	0.79938	.		0.512	ABCB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333616.2	NM_003742	Intron	4	87	1	0	1	1	1	4	87					A	169826554	C	A	169826554	5	1	334	1	0	0	0	0	0	0	1	0	42	521	18	5	2211	5	ABCB11	2	169826554	Splice_Site	SNP	C	TCGA-KK-A8I6-01A-11D-A364-08	17445505	169826554	73372819	5	16959											
AOX1	316	broad.mit.edu	37	chr2	201515849	201515849	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gaaaagttcaatgcagagaaTtattggaagaagaaaggact	19	8	11	3	0	1	3	1	0	0	3	1	7	1	5	0	2	1	2	0	2	8	3			TCGA-KK-A8I6-01A-11D-A364-08	TCGA-KK-A8I6-11A-12D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b09465a0-6766-4401-8ab3-1f7b0ba892cd	05ab92d0-9cba-4cd0-9f18-31dd0ef37394	g.chr2:201515849T>G	ENST00000374700.2	+	26	3241	c.3000T>G	c.(2998-3000)aaT>aaG	p.N1000K	AOX1_ENST00000485106.1_3'UTR	NM_001159.3	NP_001150.3	Q06278	AOXA_HUMAN	aldehyde oxidase 1	1000					inflammatory response (GO:0006954)|reactive oxygen species metabolic process (GO:0072593)|small molecule metabolic process (GO:0044281)|vitamin B6 metabolic process (GO:0042816)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	2 iron, 2 sulfur cluster binding (GO:0051537)|aldehyde oxidase activity (GO:0004031)|electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|iron ion binding (GO:0005506)|molybdopterin cofactor binding (GO:0043546)|NAD binding (GO:0051287)|UDP-N-acetylmuramate dehydrogenase activity (GO:0008762)|xanthine dehydrogenase activity (GO:0004854)			breast(5)|endometrium(3)|kidney(4)|large_intestine(13)|lung(38)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	81					Allopurinol(DB00437)|Aminocaproic Acid(DB00513)|Brimonidine(DB00484)|Famciclovir(DB00426)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|Pyrazinamide(DB00339)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909)	ATGCAGAGAATTATTGGAAGA	0.478																																						ENST00000374700.2																			0				breast(5)|endometrium(3)|kidney(4)|large_intestine(13)|lung(38)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	81						c.(2998-3000)aaT>aaG		aldehyde oxidase 1	Brimonidine(DB00484)|Chlorpromazine(DB00477)|Famciclovir(DB00426)|Menadione(DB00170)|Methotrexate(DB00563)|NADH(DB00157)|Palonosetron(DB00377)|Penciclovir(DB00299)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909)						163	163	163					2																	201515849		2203	4300	6503	SO:0001583	missense	316				inflammatory response|reactive oxygen species metabolic process	cytoplasm	2 iron, 2 sulfur cluster binding|aldehyde oxidase activity|flavin adenine dinucleotide binding|iron ion binding|NAD binding|xanthine dehydrogenase activity	g.chr2:201515849T>G	AF017060	CCDS33360.1	2q33	2008-05-20			ENSG00000138356	ENSG00000138356			553	protein-coding gene	gene with protein product		602841				7570184	Standard	NM_001159		Approved	AO, AOH1	uc002uvx.3	Q06278	OTTHUMG00000154536	ENST00000374700.2:c.3000T>G	2.37:g.201515849T>G	ENSP00000363832:p.Asn1000Lys					AOX1_ENST00000485106.1_3'UTR	p.N1000K	NM_001159.3	NP_001150.3	Q06278	ADO_HUMAN			26	3241	+			1000					O14765|Q53RR8|Q53TV3|Q9BYF0|Q9UPG6	Missense_Mutation	SNP	ENST00000374700.2	37	c.3000T>G	CCDS33360.1	.	.	.	.	.	.	.	.	.	.	T	15.81	2.943686	0.53079	.	.	ENSG00000138356	ENST00000374700	T	0.46451	0.87	5.65	3.12	0.35913	Aldehyde oxidase/xanthine dehydrogenase, molybdopterin binding (3);	0.227966	0.50627	D	0.000103	T	0.70456	0.3226	H	0.95539	3.685	0.53688	D	0.99997	D	0.76494	0.999	D	0.77004	0.989	T	0.73193	-0.4060	10	0.87932	D	0	-27.4012	8.6288	0.33906	0.0:0.1776:0.0:0.8224	.	1000	Q06278	ADO_HUMAN	K	1000	ENSP00000363832:N1000K	ENSP00000363832:N1000K	N	+	3	2	AOX1	201224094	1.000000	0.71417	0.798000	0.32154	0.396000	0.30629	1.967000	0.40491	0.476000	0.27440	0.533000	0.62120	AAT		0.478	AOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335844.1	NM_001159		10	110	0	0	0	1	0	10	110					G	201515849	T	G	201515849	3	3	334	1	0	0	0	0	1	0	0	0	729	1490	52	5	3102	5	AOX1	2	201515849	Missense_Mutation	SNP	T	TCGA-KK-A8I6-01A-11D-A364-08	31689295	201515849	41683524	6	16960											
SPHKAP	80309	broad.mit.edu	37	chr2	228860280	228860280	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tgtgtcatctgggttgtcttCctcattggcaagctgggtcc	4	15	12	10	0	4	0	2	0	2	0	6	0	6	0	2	3	1	3	2	3	1	3			TCGA-KK-A8I6-01A-11D-A364-08	TCGA-KK-A8I6-11A-12D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b09465a0-6766-4401-8ab3-1f7b0ba892cd	05ab92d0-9cba-4cd0-9f18-31dd0ef37394	g.chr2:228860280C>T	ENST00000392056.3	-	8	4625	c.4579G>A	c.(4579-4581)Gaa>Aaa	p.E1527K	SPHKAP_ENST00000344657.5_Missense_Mutation_p.E1527K	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	1527						extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|Z disc (GO:0030018)	protein kinase A binding (GO:0051018)			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		GGGTTGTCTTCCTCATTGGCA	0.572																																						ENST00000392056.3																			0				NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185						c.(4579-4581)Gaa>Aaa		SPHK1 interactor, AKAP domain containing							205	174	184					2																	228860280		2203	4300	6503	SO:0001583	missense	80309					cytoplasm	protein binding	g.chr2:228860280C>T		CCDS33389.1, CCDS46537.1	2q36.3	2010-08-20			ENSG00000153820	ENSG00000153820		"A-kinase anchor proteins"	30619	protein-coding gene	gene with protein product	"sphingosine kinase type 1-interacting protein"	611646				12080051, 11214970	Standard	NM_030623		Approved	SKIP	uc002vpq.2	Q2M3C7	OTTHUMG00000153584	ENST00000392056.3:c.4579G>A	2.37:g.228860280C>T	ENSP00000375909:p.Glu1527Lys					SPHKAP_ENST00000344657.5_Missense_Mutation_p.E1527K	p.E1527K	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)	8	4625	-		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)	1527					Q68DA3|Q68DR8|Q9C0I5	Missense_Mutation	SNP	ENST00000392056.3	37	c.4579G>A	CCDS46537.1	.	.	.	.	.	.	.	.	.	.	C	27.7	4.856546	0.91355	.	.	ENSG00000153820	ENST00000392056;ENST00000344657	T;T	0.16073	2.37;2.39	6.06	6.06	0.98353	.	0.101697	0.64402	D	0.000003	T	0.40297	0.1111	M	0.76574	2.34	0.58432	D	0.999999	D;D	0.56746	0.974;0.977	P;P	0.56563	0.638;0.801	T	0.09015	-1.0694	10	0.72032	D	0.01	-18.2095	19.609	0.95594	0.0:1.0:0.0:0.0	.	1527;1527	Q2M3C7;Q2M3C7-2	SPKAP_HUMAN;.	K	1527	ENSP00000375909:E1527K;ENSP00000339886:E1527K	ENSP00000339886:E1527K	E	-	1	0	SPHKAP	228568524	1.000000	0.71417	1.000000	0.80357	0.379000	0.30106	6.535000	0.73838	2.882000	0.98803	0.655000	0.94253	GAA		0.572	SPHKAP-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331750.1	NM_030623		4	133	0	0	0	1	0	4	133					T	228860280	C	T	228860280	3	4	334	1	0	0	0	0	1	0	0	0	15047	864	30	3	543	3	SPHKAP	2	228860280	Missense_Mutation	SNP	C	TCGA-KK-A8I6-01A-11D-A364-08	27344431	228860280	14339093	7	16961											
GMPPB	29925	broad.mit.edu	37	chr3	49760869	49760869	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttctccagcacctgcgacaTgtagctcacggccaggatca	9	8	9	15	2	3	0	2	0	1	0	4	2	3	1	3	2	3	3	3	2	1	2			TCGA-KK-A8I6-01A-11D-A364-08	TCGA-KK-A8I6-11A-12D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b09465a0-6766-4401-8ab3-1f7b0ba892cd	05ab92d0-9cba-4cd0-9f18-31dd0ef37394	g.chr3:49760869T>G	ENST00000480687.1	-	3	282	c.166A>C	c.(166-168)Atg>Ctg	p.M56L	AMIGO3_ENST00000535833.1_5'UTR|GMPPB_ENST00000308388.6_Missense_Mutation_p.M56L|GMPPB_ENST00000308375.6_Missense_Mutation_p.M56L			Q9Y5P6	GMPPB_HUMAN	GDP-mannose pyrophosphorylase B	56					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|GDP-mannose biosynthetic process (GO:0009298)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)|mannose-1-phosphate guanylyltransferase activity (GO:0004475)			endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|skin(1)	6				BRCA - Breast invasive adenocarcinoma(193;4.53e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		ACCTGCGACATGTAGCTCACG	0.627																																						ENST00000480687.1																			0				endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|skin(1)	6						c.(166-168)Atg>Ctg		GDP-mannose pyrophosphorylase B							104	99	100					3																	49760869		2203	4300	6503	SO:0001583	missense	29925				dolichol-linked oligosaccharide biosynthetic process|GDP-mannose biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine		GTP binding|mannose-1-phosphate guanylyltransferase activity	g.chr3:49760869T>G	AF135421	CCDS2802.1, CCDS2803.1	3p21.31	2008-02-05			ENSG00000173540	ENSG00000173540	2.7.7.22		22932	protein-coding gene	gene with protein product		615320					Standard	NM_013334		Approved	KIAA1851	uc003cxl.1	Q9Y5P6	OTTHUMG00000158151	ENST00000480687.1:c.166A>C	3.37:g.49760869T>G	ENSP00000418565:p.Met56Leu					GMPPB_ENST00000308388.6_Missense_Mutation_p.M56L|GMPPB_ENST00000308375.6_Missense_Mutation_p.M56L|AMIGO3_ENST00000535833.1_5'UTR	p.M56L			Q9Y5P6	GMPPB_HUMAN		BRCA - Breast invasive adenocarcinoma(193;4.53e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	3	282	-			56					A8K6N5|Q9H7U3	Missense_Mutation	SNP	ENST00000480687.1	37	c.166A>C	CCDS2803.1	.	.	.	.	.	.	.	.	.	.	T	17.39	3.377615	0.61735	.	.	ENSG00000173540	ENST00000480687;ENST00000308375;ENST00000308388	T;T;T	0.72394	-0.65;-0.65;-0.65	4.66	4.66	0.58398	Nucleotidyl transferase (1);	0.000000	0.85682	D	0.000000	T	0.50854	0.1640	N	0.12853	0.265	0.80722	D	1	B;B	0.09022	0.002;0.002	B;B	0.11329	0.003;0.006	T	0.45833	-0.9234	10	0.17369	T	0.5	-40.1237	13.0675	0.59043	0.0:0.0:0.0:1.0	.	56;56	Q9Y5P6-2;Q9Y5P6	.;GMPPB_HUMAN	L	56	ENSP00000418565:M56L;ENSP00000309092:M56L;ENSP00000311130:M56L	ENSP00000309092:M56L	M	-	1	0	GMPPB	49735873	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.501000	0.60393	1.959000	0.56917	0.454000	0.30748	ATG		0.627	GMPPB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350291.1	NM_013334		10	64	0	0	0	1	0	10	64					G	49760869	T	G	49760869	3	3	334	1	0	0	0	0	1	0	0	0	6495	1464	51	5	1025	5	GMPPB	3	49760869	Missense_Mutation	SNP	T	TCGA-KK-A8I6-01A-11D-A364-08		49760869	148261561	8	16962											
FRAS1	80144	broad.mit.edu	37	chr4	79254489	79254489	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	taactgcacagactgtgggcCttcccatgtgctgttggatg	7	12	12	10	0	0	1	0	0	0	1	1	2	1	2	2	2	3	3	2	2	1	3			TCGA-KK-A8I6-01A-11D-A364-08	TCGA-KK-A8I6-11A-12D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b09465a0-6766-4401-8ab3-1f7b0ba892cd	05ab92d0-9cba-4cd0-9f18-31dd0ef37394	g.chr4:79254489C>T	ENST00000325942.6	+	19	2641	c.2201C>T	c.(2200-2202)cCt>cTt	p.P734L	FRAS1_ENST00000264895.6_Missense_Mutation_p.P734L	NM_001166133.1	NP_001159605.1	Q86XX4	FRAS1_HUMAN	Fraser extracellular matrix complex subunit 1	734					cell communication (GO:0007154)|embryonic limb morphogenesis (GO:0030326)|metanephros morphogenesis (GO:0003338)|morphogenesis of an epithelium (GO:0002009)|palate development (GO:0060021)|protein transport (GO:0015031)|skin development (GO:0043588)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sublamina densa (GO:0061618)	metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						GACTGTGGGCCTTCCCATGTG	0.522																																						ENST00000264895.6																			0				breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						c.(2200-2202)cCt>cTt		Fraser syndrome 1							96	91	93					4																	79254489		1991	4170	6161	SO:0001583	missense	80144				cell communication	integral to membrane|plasma membrane	metal ion binding	g.chr4:79254489C>T	AB040933	CCDS54772.1	4q21.21	2014-06-25	2014-06-25		ENSG00000138759	ENSG00000138759			19185	protein-coding gene	gene with protein product		607830	"Fraser syndrome 1"			12766769, 3118036	Standard	NM_025074		Approved	FLJ22031, FLJ14927, KIAA1500	uc003hlb.2	Q86XX4	OTTHUMG00000160856	ENST00000325942.6:c.2201C>T	4.37:g.79254489C>T	ENSP00000326330:p.Pro734Leu					FRAS1_ENST00000325942.6_Missense_Mutation_p.P734L	p.P734L	NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN			19	2641	+			734					A2RRR8|Q86UZ4|Q8N3U9|Q8NAU7|Q96JW7|Q9H6N9|Q9P228	Missense_Mutation	SNP	ENST00000325942.6	37	c.2201C>T	CCDS54772.1	.	.	.	.	.	.	.	.	.	.	C	12.48	1.949855	0.34377	.	.	ENSG00000138759	ENST00000325942;ENST00000264895	T;T	0.31769	2.21;1.48	5.47	4.62	0.57501	Growth factor, receptor (1);	0.363085	0.28365	N	0.015610	T	0.32645	0.0836	L	0.56199	1.76	0.25269	N	0.98953	P;B;B	0.38020	0.615;0.415;0.415	B;B;B	0.41510	0.359;0.269;0.159	T	0.14531	-1.0469	10	0.15952	T	0.53	.	14.5674	0.68188	0.1476:0.8524:0.0:0.0	.	734;734;734	E9PHH6;Q86XX4;A2RRR8	.;FRAS1_HUMAN;.	L	734	ENSP00000326330:P734L;ENSP00000264895:P734L	ENSP00000264895:P734L	P	+	2	0	FRAS1	79473513	0.004000	0.15560	0.006000	0.13384	0.978000	0.69477	2.014000	0.40951	1.276000	0.44395	0.467000	0.42956	CCT		0.522	FRAS1-001	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000362706.2			10	13	0	0	0	1	0	10	13					T	79254489	C	T	79254489	3	4	334	1	0	0	0	0	1	0	0	0	6042	681	24	3	2275	3	FRAS1	4	79254489	Missense_Mutation	SNP	C	TCGA-KK-A8I6-01A-11D-A364-08		79254489	111899787	9	16963											
MARCH6	10299	broad.mit.edu	37	chr5	10426565	10426565	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcgtaaactggcagctcccGtgatctctgtgctgttgctt	5	15	10	11	2	1	1	0	1	1	0	4	1	2	1	1	1	4	6	1	1	2	4			TCGA-KK-A8I6-01A-11D-A364-08	TCGA-KK-A8I6-11A-12D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b09465a0-6766-4401-8ab3-1f7b0ba892cd	05ab92d0-9cba-4cd0-9f18-31dd0ef37394	g.chr5:10426565G>A	ENST00000274140.5	+	24	2569	c.2437G>A	c.(2437-2439)Gtg>Atg	p.V813M	MARCH6_ENST00000449913.2_Missense_Mutation_p.V765M|MARCH6_ENST00000510792.1_Missense_Mutation_p.V511M|MARCH6_ENST00000503788.1_Missense_Mutation_p.V708M	NM_005885.3	NP_005876.2	O60337	MARH6_HUMAN	membrane-associated ring finger (C3HC4) 6, E3 ubiquitin protein ligase	813					protein K48-linked ubiquitination (GO:0070936)	integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)	enzyme binding (GO:0019899)|ligase activity (GO:0016874)|ubiquitin conjugating enzyme binding (GO:0031624)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(35)|ovary(1)|urinary_tract(3)	54						GGCAGCTCCCGTGATCTCTGT	0.428																																						ENST00000274140.5																			0				breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(35)|ovary(1)|urinary_tract(3)	54						c.(2437-2439)Gtg>Atg		membrane-associated ring finger (C3HC4) 6, E3 ubiquitin protein ligase							435	370	392					5																	10426565		2203	4300	6503	SO:0001583	missense	10299				protein K48-linked ubiquitination	integral to endoplasmic reticulum membrane	ubiquitin conjugating enzyme binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr5:10426565G>A	AB011169	CCDS34135.1, CCDS59487.1, CCDS59488.1	5p15.2	2013-01-09	2012-02-23		ENSG00000145495	ENSG00000145495		"MARCH membrane-associated ring fingers", "RING-type (C3HC4) zinc fingers"	30550	protein-coding gene	gene with protein product		613297	"membrane-associated ring finger (C3HC4) 6"			14722266	Standard	NM_001270660		Approved	TEB4, MARCH-VI, RNF176	uc003jet.2	O60337	OTTHUMG00000162027	ENST00000274140.5:c.2437G>A	5.37:g.10426565G>A	ENSP00000274140:p.Val813Met					MARCH6_ENST00000503788.1_Missense_Mutation_p.V708M|MARCH6_ENST00000510792.1_Missense_Mutation_p.V511M|MARCH6_ENST00000449913.2_Missense_Mutation_p.V765M	p.V813M	NM_005885.2	NP_005876.2	O60337	MARH6_HUMAN			24	2569	+			813					A5PKZ4|B4DKJ2|B4DT33|D3DTC8|O14670|Q86X77	Missense_Mutation	SNP	ENST00000274140.5	37	c.2437G>A	CCDS34135.1	.	.	.	.	.	.	.	.	.	.	G	31	5.069362	0.93950	.	.	ENSG00000145495	ENST00000449913;ENST00000503788;ENST00000274140;ENST00000510792	T;T;T;T	0.50277	1.76;0.75;1.76;0.75	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	T	0.73521	0.3597	M	0.82716	2.605	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.987;0.987;0.999;0.972	T	0.76173	-0.3056	10	0.87932	D	0	-22.7286	20.0572	0.97657	0.0:0.0:1.0:0.0	.	708;765;393;813	B4DKJ2;B4DT33;B2RBJ1;O60337	.;.;.;MARH6_HUMAN	M	765;708;813;511	ENSP00000414643:V765M;ENSP00000425930:V708M;ENSP00000274140:V813M;ENSP00000424512:V511M	ENSP00000274140:V813M	V	+	1	0	MARCH6	10479565	1.000000	0.71417	0.975000	0.42487	0.988000	0.76386	9.418000	0.97395	2.826000	0.97356	0.655000	0.94253	GTG		0.428	MARCH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366919.2	NM_005885		4	183	0	0	0	1	0	4	183					A	10426565	G	A	10426565	3	1	334	1	0	0	0	0	1	0	0	0	9305	1145	40	1	2531	1	MARCH6	5	10426565	Missense_Mutation	SNP	G	TCGA-KK-A8I6-01A-11D-A364-08		10426565	170488695	10	16964											
COL12A1	1303	broad.mit.edu	37	chr6	75827179	75827179	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaagtcgtccacaatgaacaCgtgccgttcacttggtttgc	10	11	9	11	3	1	1	1	1	0	0	3	1	2	1	2	1	3	2	2	1	3	3	rs183898615	byFrequency	TCGA-KK-A8I6-01A-11D-A364-08	TCGA-KK-A8I6-11A-12D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b09465a0-6766-4401-8ab3-1f7b0ba892cd	05ab92d0-9cba-4cd0-9f18-31dd0ef37394	g.chr6:75827179C>T	ENST00000322507.8	-	47	7747	c.7438G>A	c.(7438-7440)Gtg>Atg	p.V2480M	COL12A1_ENST00000416123.2_Missense_Mutation_p.V2480M|COL12A1_ENST00000483888.2_Missense_Mutation_p.V2480M|COL12A1_ENST00000345356.6_Missense_Mutation_p.V1316M	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	2480	Nonhelical region (NC3).|VWFA 4. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	collagen type XII trimer (GO:0005595)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|vesicle (GO:0031982)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)			breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						ACAATGAACACGTGCCGTTCA	0.418													C|||	2	0.000399361	0	0	5008	,	,		18900	0.002		0	False		,,,				2504	0					ENST00000322507.8																			0				breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						c.(7438-7440)Gtg>Atg		collagen, type XII, alpha 1							126	123	124					6																	75827179		1981	4186	6167	SO:0001583	missense	1303				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength	g.chr6:75827179C>T	U73779	CCDS43481.1, CCDS43482.1	6q12-q13	2013-02-11	2003-07-24		ENSG00000111799	ENSG00000111799		"Proteoglycans / Extracellular Matrix : Collagen proteoglycans", "Collagens", "Fibronectin type III domain containing"	2188	protein-coding gene	gene with protein product	"collagen type XII proteoglycan"	120320	"collagen, type XII, alpha 1-like"	COL12A1L		9143499	Standard	XM_006715334		Approved		uc003phs.3	Q99715	OTTHUMG00000015051	ENST00000322507.8:c.7438G>A	6.37:g.75827179C>T	ENSP00000325146:p.Val2480Met					COL12A1_ENST00000345356.6_Missense_Mutation_p.V1316M|COL12A1_ENST00000483888.2_Missense_Mutation_p.V2480M|COL12A1_ENST00000416123.2_Missense_Mutation_p.V2480M	p.V2480M	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN			47	7747	-			2480			Nonhelical region (NC3).|VWFA 4.		O43853|Q15955|Q5VYK1|Q5VYK2|Q71UR3|Q99716	Missense_Mutation	SNP	ENST00000322507.8	37	c.7438G>A	CCDS43482.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	23.0	4.359394	0.82353	.	.	ENSG00000111799	ENST00000322507;ENST00000425443;ENST00000432784;ENST00000345356;ENST00000416123;ENST00000483888;ENST00000493109	T;T;T;T;T;T	0.80566	-1.39;-1.39;-1.39;-1.39;-1.39;-1.39	5.91	5.91	0.95273	von Willebrand factor, type A (3);	0.000000	0.85682	D	0.000000	D	0.89908	0.6851	M	0.83223	2.63	0.49582	D	0.999809	D;D	0.89917	1.0;1.0	D;D	0.91635	0.996;0.999	D	0.88876	0.3336	10	0.51188	T	0.08	.	20.2983	0.98569	0.0:1.0:0.0:0.0	.	1316;2480	Q99715-2;Q99715	.;COCA1_HUMAN	M	2480;118;2480;1316;2480;2480;34	ENSP00000325146:V2480M;ENSP00000399812:V118M;ENSP00000305147:V1316M;ENSP00000412864:V2480M;ENSP00000421216:V2480M;ENSP00000423423:V34M	ENSP00000325146:V2480M	V	-	1	0	COL12A1	75883899	1.000000	0.71417	0.979000	0.43373	0.935000	0.57460	5.999000	0.70665	2.802000	0.96397	0.655000	0.94253	GTG		0.418	COL12A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041249.3	NM_004370		5	71	0	0	0	1	0	5	71					T	75827179	C	T	75827179	3	4	334	1	0	0	0	0	1	0	0	0	3669	536	19	1	1833	1	COL12A1	6	75827179	Missense_Mutation	SNP	C	TCGA-KK-A8I6-01A-11D-A364-08		75827179	95287888	11	16965											
TAAR8	83551	broad.mit.edu	37	chr6	132874168	132874168	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ttcacagttgctgtgatgtgGcattttgttactcttctgtc	5	19	9	8	0	3	1	1	1	2	0	4	1	3	1	0	1	2	4	0	1	1	6			TCGA-KK-A8I6-01A-11D-A364-08	TCGA-KK-A8I6-11A-12D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b09465a0-6766-4401-8ab3-1f7b0ba892cd	05ab92d0-9cba-4cd0-9f18-31dd0ef37394	g.chr6:132874168G>T	ENST00000275200.1	+	1	337	c.337G>T	c.(337-339)Gca>Tca	p.A113S		NM_053278.1	NP_444508.1	Q969N4	TAAR8_HUMAN	trace amine associated receptor 8	113					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|trace-amine receptor activity (GO:0001594)			endometrium(3)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22	Breast(56;0.112)			OV - Ovarian serous cystadenocarcinoma(155;0.00412)|GBM - Glioblastoma multiforme(226;0.00792)		CTGTGATGTGGCATTTTGTTA	0.478																																						ENST00000275200.1																			0				endometrium(3)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22						c.(337-339)Gca>Tca		trace amine associated receptor 8							273	235	248					6																	132874168		2203	4300	6503	SO:0001583	missense	83551					plasma membrane	G-protein coupled receptor activity	g.chr6:132874168G>T	AF380193	CCDS5154.1	6q23.2	2014-05-14	2005-02-23	2005-02-24	ENSG00000146385	ENSG00000146385		"GPCR / Class A : Trace amine associated receptors"	14964	protein-coding gene	gene with protein product		606927	"trace amine receptor 5"	GPR102, TRAR5		11574155, 15718104	Standard	NM_053278		Approved	TA5, TAR5	uc011ecj.2	Q969N4	OTTHUMG00000015586	ENST00000275200.1:c.337G>T	6.37:g.132874168G>T	ENSP00000275200:p.Ala113Ser						p.A113S	NM_053278.1	NP_444508.1	Q969N4	TAAR8_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.00412)|GBM - Glioblastoma multiforme(226;0.00792)	1	337	+	Breast(56;0.112)		113					Q5VUQ0	Missense_Mutation	SNP	ENST00000275200.1	37	c.337G>T	CCDS5154.1	.	.	.	.	.	.	.	.	.	.	g	3.602	-0.081315	0.07141	.	.	ENSG00000146385	ENST00000275200	T	0.72394	-0.65	4.72	2.92	0.33932	GPCR, rhodopsin-like superfamily (1);	0.195811	0.32147	N	0.006516	T	0.23094	0.0558	N	0.05534	-0.03	0.09310	N	1	B	0.09022	0.002	B	0.18871	0.023	T	0.20974	-1.0259	10	0.22109	T	0.4	-5.8045	5.9723	0.19359	0.1065:0.0:0.563:0.3306	.	113	Q969N4	TAAR8_HUMAN	S	113	ENSP00000275200:A113S	ENSP00000275200:A113S	A	+	1	0	TAAR8	132915861	0.000000	0.05858	0.029000	0.17559	0.774000	0.43823	-1.100000	0.03339	0.692000	0.31613	-0.121000	0.15023	GCA		0.478	TAAR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042262.1	NM_053278		6	193	1	0	3.59834e-05	1	3.72459e-05	6	193					T	132874168	G	T	132874168	3	4	334	1	0	0	0	0	1	0	0	0	15490	1203	42	5	339	5	TAAR8	6	132874168	Missense_Mutation	SNP	G	TCGA-KK-A8I6-01A-11D-A364-08	57046989	132874168	38240899	12	16966											
ESR1	2099	broad.mit.edu	37	chr6	152420001	152420001	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggggcatccgtggaggagaCggaccaaagccacttggcca	11	4	15	11	2	0	1	0	0	0	1	1	4	1	3	4	6	1	1	4	6	1	1			TCGA-KK-A8I6-01A-11D-A364-08	TCGA-KK-A8I6-11A-12D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b09465a0-6766-4401-8ab3-1f7b0ba892cd	05ab92d0-9cba-4cd0-9f18-31dd0ef37394	g.chr6:152420001C>T	ENST00000206249.3	+	8	2050	c.1688C>T	c.(1687-1689)aCg>aTg	p.T563M	ESR1_ENST00000406599.1_Missense_Mutation_p.T302M|ESR1_ENST00000443427.1_Missense_Mutation_p.T563M|ESR1_ENST00000338799.5_Missense_Mutation_p.T563M|ESR1_ENST00000427531.2_Intron|ESR1_ENST00000456483.2_Missense_Mutation_p.T451M|ESR1_ENST00000440973.1_Missense_Mutation_p.T563M	NM_000125.3	NP_000116.2	P03372	ESR1_HUMAN	estrogen receptor 1	563	Interaction with AKAP13.|Self-association.|Transactivation AF-2.				androgen metabolic process (GO:0008209)|antral ovarian follicle growth (GO:0001547)|cellular response to estradiol stimulus (GO:0071392)|chromatin remodeling (GO:0006338)|epithelial cell development (GO:0002064)|epithelial cell proliferation involved in mammary gland duct elongation (GO:0060750)|gene expression (GO:0010467)|intracellular estrogen receptor signaling pathway (GO:0030520)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|male gonad development (GO:0008584)|mammary gland alveolus development (GO:0060749)|mammary gland branching involved in pregnancy (GO:0060745)|negative regulation of gene expression (GO:0010629)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of retinoic acid receptor signaling pathway (GO:0048386)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis (GO:0060527)|prostate epithelial cord elongation (GO:0060523)|regulation of apoptotic process (GO:0042981)|regulation of branching involved in prostate gland morphogenesis (GO:0060687)|regulation of transcription, DNA-templated (GO:0006355)|response to estradiol (GO:0032355)|response to estrogen (GO:0043627)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|uterus development (GO:0060065)|vagina development (GO:0060068)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|transcriptionally active chromatin (GO:0035327)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|core promoter sequence-specific DNA binding (GO:0001046)|enzyme binding (GO:0019899)|estrogen receptor activity (GO:0030284)|estrogen response element binding (GO:0034056)|estrogen-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0038052)|identical protein binding (GO:0042802)|nitric-oxide synthase regulator activity (GO:0030235)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.T563M(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(19)|ovary(1)|prostate(2)|skin(1)	49		Ovarian(120;0.0448)	BRCA - Breast invasive adenocarcinoma(37;0.0841)	OV - Ovarian serous cystadenocarcinoma(155;4.55e-10)	Allylestrenol(DB01431)|Clomifene(DB00882)|Conjugated Estrogens(DB00286)|Danazol(DB01406)|Desogestrel(DB00304)|Dienestrol(DB00890)|Diethylstilbestrol(DB00255)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estrone(DB00655)|Estropipate(DB04574)|Ethinyl Estradiol(DB00977)|Ethynodiol(DB00823)|Etonogestrel(DB00294)|Fluoxymesterone(DB01185)|Fulvestrant(DB00947)|Levonorgestrel(DB00367)|Medroxyprogesterone Acetate(DB00603)|Melatonin(DB01065)|Mestranol(DB01357)|Naloxone(DB01183)|Norgestimate(DB00957)|Ospemifene(DB04938)|Progesterone(DB00396)|Quinestrol(DB04575)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Toremifene(DB00539)|Trilostane(DB01108)	GTGGAGGAGACGGACCAAAGC	0.602																																						ENST00000440973.1																			1	Substitution - Missense(1)	p.T563M(1)	NS(1)	NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(19)|ovary(1)|prostate(2)|skin(1)	49						c.(1687-1689)aCg>aTg		estrogen receptor 1	Chlorotrianisene(DB00269)|Clomifene(DB00882)|Conjugated Estrogens(DB00286)|Danazol(DB01406)|Desogestrel(DB00304)|Dienestrol(DB00890)|Diethylstilbestrol(DB00255)|Dromostanolone(DB00858)|Drospirenone(DB01395)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estrone(DB00655)|Ethinyl Estradiol(DB00977)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Fluoxymesterone(DB01185)|Fulvestrant(DB00947)|Letrozole(DB01006)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Melatonin(DB01065)|Mestranol(DB01357)|Naloxone(DB01183)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396)|Quinestrol(DB04575)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Toremifene(DB00539)						87	77	81					6																	152420001		2203	4300	6503	SO:0001583	missense	2099				positive regulation of retinoic acid receptor signaling pathway|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to estradiol stimulus	chromatin remodeling complex|cytoplasm|nucleoplasm	beta-catenin binding|enzyme binding|estrogen receptor activity|estrogen response element binding|nitric-oxide synthase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|zinc ion binding	g.chr6:152420001C>T	X03635	CCDS5234.1	6q24-q27	2013-01-16			ENSG00000091831	ENSG00000091831		"Nuclear hormone receptors"	3467	protein-coding gene	gene with protein product		133430		ESR		3754034	Standard	NM_000125		Approved	NR3A1, Era	uc003qon.4	P03372	OTTHUMG00000016103	ENST00000206249.3:c.1688C>T	6.37:g.152420001C>T	ENSP00000206249:p.Thr563Met					ESR1_ENST00000206249.3_Missense_Mutation_p.T563M|ESR1_ENST00000338799.5_Missense_Mutation_p.T563M|ESR1_ENST00000443427.1_Missense_Mutation_p.T563M|ESR1_ENST00000406599.1_Missense_Mutation_p.T302M|ESR1_ENST00000544394.1_Intron|ESR1_ENST00000456483.2_Missense_Mutation_p.T451M	p.T563M	NM_001122742.1	NP_001116214.1	P03372	ESR1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.0841)	OV - Ovarian serous cystadenocarcinoma(155;4.55e-10)	10	2058	+		Ovarian(120;0.0448)	563			Interaction with AKAP13.		Q13511|Q14276|Q5T5H7|Q6MZQ9|Q9NU51|Q9UDZ7|Q9UIS7	Missense_Mutation	SNP	ENST00000206249.3	37	c.1688C>T	CCDS5234.1	.	.	.	.	.	.	.	.	.	.	C	4.757	0.140745	0.09083	.	.	ENSG00000091831	ENST00000440973;ENST00000338799;ENST00000456483;ENST00000431219;ENST00000443427;ENST00000206249;ENST00000406599;ENST00000347491;ENST00000431590	D;D;D;D;D;T	0.92149	-2.98;-2.98;-2.5;-2.98;-2.98;-0.4	5.45	-3.08	0.05347	Estrogen-type nuclear receptor, C-terminal (1);	1.846280	0.03073	N	0.157487	T	0.68833	0.3044	N	0.08118	0	0.09310	N	1	P;B;B;B;B;B;B	0.43412	0.806;0.162;0.059;0.023;0.004;0.012;0.014	B;B;B;B;B;B;B	0.39706	0.307;0.021;0.01;0.006;0.008;0.005;0.008	T	0.70575	-0.4834	10	0.45353	T	0.12	.	6.1453	0.20283	0.2434:0.2277:0.0:0.5289	.	238;128;302;490;562;563;563	E7EVR3;B5LY05;Q9H2M1;B4E3R5;A8KAF4;G4XH65;P03372	.;.;.;.;.;.;ESR1_HUMAN	M	563;563;451;238;563;563;302;150;491	ENSP00000405330:T563M;ENSP00000342630:T563M;ENSP00000415934:T451M;ENSP00000387500:T563M;ENSP00000206249:T563M;ENSP00000384064:T302M	ENSP00000206249:T563M	T	+	2	0	ESR1	152461694	0.006000	0.16342	0.000000	0.03702	0.003000	0.03518	0.083000	0.14871	-0.453000	0.07076	-0.781000	0.03364	ACG		0.602	ESR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043308.1			5	37	0	0	0	1	0	5	37					T	152420001	C	T	152420001	3	4	334	1	0	0	0	0	1	0	0	0	5256	536	19	1	1718	1	ESR1	6	152420001	Missense_Mutation	SNP	C	TCGA-KK-A8I6-01A-11D-A364-08	19545833	152420001	18695066	13	16967											
RP1L1	94137	broad.mit.edu	37	chr8	10470654	10470654	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atctccacggacaggctgccGtcctcattcatgcggacctt	7	10	9	15	3	3	0	2	0	1	0	5	2	4	2	4	3	2	1	4	3	0	2	rs200317816	byFrequency	TCGA-KK-A8I6-01A-11D-A364-08	TCGA-KK-A8I6-11A-12D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b09465a0-6766-4401-8ab3-1f7b0ba892cd	05ab92d0-9cba-4cd0-9f18-31dd0ef37394	g.chr8:10470654G>A	ENST00000382483.3	-	4	1177	c.954C>T	c.(952-954)gaC>gaT	p.D318D		NM_178857.5	NP_849188.4	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	318					cell projection organization (GO:0030030)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|visual perception (GO:0007601)	axoneme (GO:0005930)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|photoreceptor connecting cilium (GO:0032391)|photoreceptor outer segment (GO:0001750)				breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		ACAGGCTGCCGTCCTCATTCA	0.662													G|||	39	0.00778754	0	0	5008	,	,		16661	0		0	False		,,,				2504	0.0399					ENST00000382483.3																			0				breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148						c.(952-954)gaC>gaT		retinitis pigmentosa 1-like 1		G		0,4274		0,0,2137	84	93	90		954	-10.9	0.2	8		90	3,8481		0,3,4239	no	coding-synonymous	RP1L1	NM_178857.5		0,3,6376	AA,AG,GG		0.0354,0.0,0.0235		318/2401	10470654	3,12755	2137	4242	6379	SO:0001819	synonymous_variant	94137				intracellular signal transduction			g.chr8:10470654G>A	AY168346	CCDS43708.1	8p23.1	2011-12-06			ENSG00000183638	ENSG00000183638			15946	protein-coding gene	gene with protein product		608581				12634863	Standard	NM_178857		Approved	DCDC4B	uc003wtc.3	Q8IWN7	OTTHUMG00000163806	ENST00000382483.3:c.954C>T	8.37:g.10470654G>A							p.D318D	NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN		COAD - Colon adenocarcinoma(149;0.0811)	4	1177	-			318					Q86SQ1|Q8IWN8|Q8IWN9|Q8IWP0|Q8IWP1|Q8IWP2	Silent	SNP	ENST00000382483.3	37	c.954C>T	CCDS43708.1																																																																																				0.662	RP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375673.1			9	119	0	0	0	1	0	9	119					A	10470654	G	A	10470654	2	1	334	1	0	0	0	0	0	0	0	1	13533	1136	40	1		1	RP1L1	8	10470654	Silent	SNP	G	TCGA-KK-A8I6-01A-11D-A364-08		10470654	135893368	14	16968											
RAD54B	25788	broad.mit.edu	37	chr8	95416419	95416419	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	caagagggaaacagttcttaTtgaatacccactggtgattc	13	11	9	8	0	1	3	0	2	1	1	2	4	1	4	1	2	2	1	1	2	5	5			TCGA-KK-A8I6-01A-11D-A364-08	TCGA-KK-A8I6-11A-12D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b09465a0-6766-4401-8ab3-1f7b0ba892cd	05ab92d0-9cba-4cd0-9f18-31dd0ef37394	g.chr8:95416419T>C	ENST00000336148.5	-	6	954	c.830A>G	c.(829-831)aAt>aGt	p.N277S		NM_012415.3	NP_036547.1	Q9Y620	RA54B_HUMAN	RAD54 homolog B (S. cerevisiae)	277					ATP catabolic process (GO:0006200)|DNA duplex unwinding (GO:0032508)|double-strand break repair via homologous recombination (GO:0000724)|mitotic recombination (GO:0006312)|reciprocal meiotic recombination (GO:0007131)	nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|RNA helicase activity (GO:0003724)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(10)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39	Breast(36;4.5e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00217)			ACAGTTCTTATTGAATACCCA	0.353								Direct reversal of damage;Homologous recombination																														ENST00000336148.5																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(10)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						c.(829-831)aAt>aGt	Direct reversal of damage;Homologous recombination	RAD54 homolog B (S. cerevisiae)							131	119	123					8																	95416419		2203	4300	6503	SO:0001583	missense	25788				double-strand break repair via homologous recombination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA translocase activity|protein binding	g.chr8:95416419T>C	AF112481	CCDS6262.1, CCDS56546.1, CCDS75768.1	8q22.1	2014-08-08			ENSG00000197275	ENSG00000197275			17228	protein-coding gene	gene with protein product		604289				10362364, 10851248	Standard	NM_012415		Approved	RDH54	uc003ygk.3	Q9Y620	OTTHUMG00000133658	ENST00000336148.5:c.830A>G	8.37:g.95416419T>C	ENSP00000336606:p.Asn277Ser						p.N277S	NM_012415.3	NP_036547.1	O95073	FSBP_HUMAN	BRCA - Breast invasive adenocarcinoma(8;0.00217)		6	954	-	Breast(36;4.5e-05)		0					F6WBS8	Missense_Mutation	SNP	ENST00000336148.5	37	c.830A>G	CCDS6262.1	.	.	.	.	.	.	.	.	.	.	T	20.3	3.968233	0.74131	.	.	ENSG00000197275	ENST00000336148	D	0.93133	-3.17	5.24	4.07	0.47477	.	0.000000	0.85682	D	0.000000	D	0.93923	0.8055	M	0.69823	2.125	0.80722	D	1	D	0.59357	0.985	P	0.53549	0.729	D	0.91599	0.5293	10	0.30854	T	0.27	-14.0991	11.1114	0.48235	0.0:0.0731:0.0:0.9269	.	277	Q9Y620	RA54B_HUMAN	S	277	ENSP00000336606:N277S	ENSP00000336606:N277S	N	-	2	0	RAD54B	95485595	1.000000	0.71417	0.983000	0.44433	0.995000	0.86356	3.503000	0.53340	0.822000	0.34565	0.533000	0.62120	AAT		0.353	RAD54B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257806.3	NM_012415		28	58	0	0	0	1	0	28	58					C	95416419	T	C	95416419	3	2	334	1	0	0	0	0	1	0	0	0	12992	1493	52	4	1942	4	RAD54B	8	95416419	Missense_Mutation	SNP	T	TCGA-KK-A8I6-01A-11D-A364-08	84945765	95416419	50947603	15	16969											
CSMD3	114788	broad.mit.edu	37	chr8	113237027	113237027	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	attgtgcaaaccgtgttcaaGttgggatcaaatcgtaccgc	11	11	10	9	3	2	0	2	0	0	0	3	1	2	1	2	1	3	4	2	1	4	4			TCGA-KK-A8I6-01A-11D-A364-08	TCGA-KK-A8I6-11A-12D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b09465a0-6766-4401-8ab3-1f7b0ba892cd	05ab92d0-9cba-4cd0-9f18-31dd0ef37394	g.chr8:113237027G>T	ENST00000297405.5	-	71	11341	c.11097C>A	c.(11095-11097)aaC>aaA	p.N3699K	CSMD3_ENST00000343508.3_Missense_Mutation_p.N3659K|CSMD3_ENST00000352409.3_Missense_Mutation_p.N3629K|CSMD3_ENST00000455883.2_Missense_Mutation_p.N3530K	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3699						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						CCGTGTTCAAGTTGGGATCAA	0.433										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												ENST00000297405.5																			0				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						c.(11095-11097)aaC>aaA		CUB and Sushi multiple domains 3							390	328	349					8																	113237027		2203	4300	6503	SO:0001583	missense	114788					integral to membrane|plasma membrane		g.chr8:113237027G>T	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.11097C>A	8.37:g.113237027G>T	ENSP00000297405:p.Asn3699Lys	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_ENST00000352409.3_Missense_Mutation_p.N3629K|CSMD3_ENST00000455883.2_Missense_Mutation_p.N3530K|CSMD3_ENST00000343508.3_Missense_Mutation_p.N3659K	p.N3699K	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN			71	11341	-			3699					Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	c.11097C>A	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	G	15.39	2.819742	0.50633	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.25579	2.1;2.09;2.13;1.79;2.11	5.5	3.7	0.42460	.	0.128944	0.50627	D	0.000115	T	0.42359	0.1199	L	0.54323	1.7	0.37984	D	0.933706	D;D;P	0.76494	0.999;0.998;0.732	D;D;P	0.81914	0.995;0.99;0.458	T	0.42632	-0.9440	10	0.72032	D	0.01	.	9.3393	0.38069	0.2824:0.0:0.7176:0.0	.	3530;3699;3659	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	K	3659;3699;2969;3530;3629	ENSP00000345799:N3659K;ENSP00000297405:N3699K;ENSP00000341558:N2969K;ENSP00000412263:N3530K;ENSP00000343124:N3629K	ENSP00000297405:N3699K	N	-	3	2	CSMD3	113306203	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.610000	0.36869	0.789000	0.33779	0.591000	0.81541	AAC		0.433	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		54	122	1	0	5.82388e-19	1	6.36313e-19	54	122					T	113237027	G	T	113237027	3	4	334	1	0	0	0	0	1	0	0	0	3946	1020	36	5	30	5	CSMD3	8	113237027	Missense_Mutation	SNP	G	TCGA-KK-A8I6-01A-11D-A364-08	17820608	113237027	33126995	16	16970											
FGD3	89846	broad.mit.edu	37	chr9	95796871	95796871	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcctgctctgcggccccctgCggctgtcagagagcggtgag	4	7	16	14	3	2	2	1	1	1	1	2	3	2	2	3	3	4	2	3	3	0	0	rs199718653		TCGA-KK-A8I6-01A-11D-A364-08	TCGA-KK-A8I6-11A-12D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b09465a0-6766-4401-8ab3-1f7b0ba892cd	05ab92d0-9cba-4cd0-9f18-31dd0ef37394	g.chr9:95796871C>T	ENST00000375482.3	+	17	2330	c.1834C>T	c.(1834-1836)Cgg>Tgg	p.R612W	FGD3_ENST00000416701.2_Missense_Mutation_p.R611W|FGD3_ENST00000538555.1_Missense_Mutation_p.R215W|FGD3_ENST00000337352.6_Missense_Mutation_p.R612W	NM_001083536.1	NP_001077005.1	Q5JSP0	FGD3_HUMAN	FYVE, RhoGEF and PH domain containing 3	612	PH 2. {ECO:0000255|PROSITE- ProRule:PRU00145}.				actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|ruffle (GO:0001726)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|small GTPase binding (GO:0031267)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|urinary_tract(1)	17						CGGCCCCCTGCGGCTGTCAGA	0.662																																						ENST00000375482.3																			0				breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|urinary_tract(1)	17						c.(1834-1836)Cgg>Tgg		FYVE, RhoGEF and PH domain containing 3		C	TRP/ARG,TRP/ARG	5,3949		0,5,1972	41	49	47		1834,1834	2.2	0	9		47	0,8284		0,0,4142	yes	missense,missense	FGD3	NM_001083536.1,NM_033086.2	101,101	0,5,6114	TT,TC,CC		0.0,0.1265,0.0409	possibly-damaging,possibly-damaging	612/726,612/726	95796871	5,12233	1977	4142	6119	SO:0001583	missense	89846				actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding	g.chr9:95796871C>T	AK000004	CCDS43849.1, CCDS69619.1	9q22	2013-01-10	2004-08-24		ENSG00000127084	ENSG00000127084		"Zinc fingers, FYVE domain containing", "Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	16027	protein-coding gene	gene with protein product			"FGD1 family, member 3"			11214971	Standard	NM_001083536		Approved	FLJ00004, ZFYVE5	uc004asz.2	Q5JSP0	OTTHUMG00000021032	ENST00000375482.3:c.1834C>T	9.37:g.95796871C>T	ENSP00000364631:p.Arg612Trp					FGD3_ENST00000337352.6_Missense_Mutation_p.R612W|FGD3_ENST00000416701.2_Missense_Mutation_p.R611W|FGD3_ENST00000538555.1_Missense_Mutation_p.R215W	p.R612W	NM_001083536.1	NP_001077005.1	Q5JSP0	FGD3_HUMAN			17	2330	+			612			PH 2.		F8W7P2|Q4VX84|Q7Z7D9|Q8N5G1	Missense_Mutation	SNP	ENST00000375482.3	37	c.1834C>T	CCDS43849.1	.	.	.	.	.	.	.	.	.	.	C	7.760	0.705259	0.15172	0.001265	0.0	ENSG00000127084	ENST00000375482;ENST00000416701;ENST00000337352;ENST00000538555	T;T;T;T	0.72725	-0.56;-0.56;-0.56;-0.68	4.29	2.18	0.27775	Pleckstrin homology domain (2);	1.710450	0.03653	N	0.241383	T	0.58666	0.2138	N	0.22421	0.69	0.09310	N	1	B;B	0.12013	0.005;0.0	B;B	0.06405	0.002;0.001	T	0.49234	-0.8961	10	0.72032	D	0.01	.	6.347	0.21355	0.2378:0.6633:0.0:0.0989	.	611;612	F8W7P2;Q5JSP0	.;FGD3_HUMAN	W	612;611;612;215	ENSP00000364631:R612W;ENSP00000413833:R611W;ENSP00000336914:R612W;ENSP00000442560:R215W	ENSP00000336914:R612W	R	+	1	2	FGD3	94836692	0.759000	0.28416	0.003000	0.11579	0.064000	0.16182	1.440000	0.35024	0.396000	0.25283	0.561000	0.74099	CGG		0.662	FGD3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055493.1	NM_033086		3	58	0	0	0	1	0	3	58					T	95796871	C	T	95796871	3	4	334	1	0	0	0	0	1	0	0	0	5834	759	27	1	1892	1	FGD3	9	95796871	Missense_Mutation	SNP	C	TCGA-KK-A8I6-01A-11D-A364-08		95796871	45416560	17	16971											
PTGS1	5742	broad.mit.edu	37	chr9	125154632	125154632	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tcaagggtctcctagggaatCccatctgttctccggagtac	8	11	10	12	1	4	0	1	0	3	0	7	2	5	2	3	3	1	2	3	3	4	3	rs201184369		TCGA-KK-A8I6-01A-11D-A364-08	TCGA-KK-A8I6-11A-12D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b09465a0-6766-4401-8ab3-1f7b0ba892cd	05ab92d0-9cba-4cd0-9f18-31dd0ef37394	g.chr9:125154632C>T	ENST00000362012.2	+	11	1614	c.1609C>T	c.(1609-1611)Ccc>Tcc	p.P537S	PTGS1_ENST00000373698.5_Missense_Mutation_p.P428S|PTGS1_ENST00000540753.1_Missense_Mutation_p.P475S|PTGS1_ENST00000223423.4_Missense_Mutation_p.P500S	NM_000962.3|NM_001271164.1|NM_001271367.1|NM_080591.2	NP_000953.2|NP_001258093.1|NP_001258296.1|NP_542158.1	P23219	PGH1_HUMAN	prostaglandin-endoperoxide synthase 1 (prostaglandin G/H synthase and cyclooxygenase)	537					arachidonic acid metabolic process (GO:0019369)|cyclooxygenase pathway (GO:0019371)|inflammatory response (GO:0006954)|lipid metabolic process (GO:0006629)|prostaglandin biosynthetic process (GO:0001516)|regulation of blood pressure (GO:0008217)|regulation of cell proliferation (GO:0042127)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|photoreceptor outer segment (GO:0001750)	dioxygenase activity (GO:0051213)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)|prostaglandin-endoperoxide synthase activity (GO:0004666)			large_intestine(3)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	8					Acetaminophen(DB00316)|Acetylsalicylic acid(DB00945)|Antipyrine(DB01435)|Antrafenine(DB01419)|Balsalazide(DB01014)|Bortezomib(DB00188)|Bromfenac(DB00963)|Candesartan(DB00796)|Carprofen(DB00821)|Carvedilol(DB01136)|Chlorpropamide(DB00672)|Dapsone(DB00250)|Desmopressin(DB00035)|Diazepam(DB00829)|Diclofenac(DB00586)|Diethylcarbamazine(DB00711)|Diflunisal(DB00861)|Dihomo-gamma-linolenic acid(DB00154)|Diphenhydramine(DB01075)|Dronabinol(DB00470)|Eletriptan(DB00216)|Eszopiclone(DB00402)|Etodolac(DB00749)|Etoposide(DB00773)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|Hexobarbital(DB01355)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Icosapent(DB00159)|Ifosfamide(DB01181)|Imatinib(DB00619)|Indomethacin(DB00328)|Irbesartan(DB01029)|Ketamine(DB01221)|Ketobemidone(DB06738)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lornoxicam(DB06725)|Lumiracoxib(DB01283)|Magnesium salicylate(DB01397)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mesalazine(DB00244)|Minoxidil(DB00350)|Montelukast(DB00471)|Nabumetone(DB00461)|Naproxen(DB00788)|Nateglinide(DB00731)|Nepafenac(DB06802)|Niflumic Acid(DB04552)|Nortriptyline(DB00540)|Oxaprozin(DB00991)|Phenylbutazone(DB00812)|Pioglitazone(DB01132)|Piroxicam(DB00554)|Rosiglitazone(DB00412)|Salicylate-sodium(DB01398)|Salicylic acid(DB00936)|Salsalate(DB01399)|Sulfamethoxazole(DB01015)|Sulfasalazine(DB00795)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Terbinafine(DB00857)|Thalidomide(DB01041)|Tiaprofenic acid(DB01600)|Tolmetin(DB00500)|Torasemide(DB00214)|Trabectedin(DB05109)|Triflusal(DB08814)|Trisalicylate-choline(DB01401)|Valproic Acid(DB00313)|Voriconazole(DB00582)|Zafirlukast(DB00549)|Zileuton(DB00744)|Zolpidem(DB00425)|Zopiclone(DB01198)	CCTAGGGAATCCCATCTGTTC	0.522																																						ENST00000362012.2																			0				large_intestine(3)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	8						c.(1609-1611)Ccc>Tcc		prostaglandin-endoperoxide synthase 1 (prostaglandin G/H synthase and cyclooxygenase)	Acetaminophen(DB00316)|Aspirin(DB00945)|Balsalazide(DB01014)|Bromfenac(DB00963)|Ciclopirox(DB01188)|Diclofenac(DB00586)|Diflunisal(DB00861)|Dipyrone(DB04817)|Etodolac(DB00749)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|gamma-Homolinolenic acid(DB00154)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lumiracoxib(DB01283)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Mesalazine(DB00244)|Minoxidil(DB00350)|Nabumetone(DB00461)|Naproxen(DB00788)|Phenacetin(DB03783)|Piroxicam(DB00554)|Rofecoxib(DB00533)|Salicyclic acid(DB00936)|Salsalate(DB01399)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Tolmetin(DB00500)						110	112	111					9																	125154632		2203	4300	6503	SO:0001583	missense	5742				cyclooxygenase pathway|hormone biosynthetic process|regulation of blood pressure|response to oxidative stress|xenobiotic metabolic process	endoplasmic reticulum membrane|Golgi apparatus|microsome|plasma membrane	heme binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peroxidase activity|prostaglandin-endoperoxide synthase activity	g.chr9:125154632C>T	M59979	CCDS6842.1, CCDS6843.1, CCDS59520.1, CCDS59521.1, CCDS75895.1	9q32-q33.3	2008-02-05			ENSG00000095303	ENSG00000095303	1.14.99.1		9604	protein-coding gene	gene with protein product		176805				2512924, 1907252	Standard	NM_000962		Approved	COX1, PGHS-1, PTGHS	uc004bmg.2	P23219	OTTHUMG00000020605	ENST00000362012.2:c.1609C>T	9.37:g.125154632C>T	ENSP00000354612:p.Pro537Ser					PTGS1_ENST00000223423.4_Missense_Mutation_p.P500S|PTGS1_ENST00000373698.5_Missense_Mutation_p.P428S|PTGS1_ENST00000540753.1_Missense_Mutation_p.P475S	p.P537S	NM_000962.2|NM_001271164.1|NM_080591.1	NP_000953.2|NP_001258093.1|NP_542158.1	P23219	PGH1_HUMAN			11	1614	+			537					A8K1V7|B4DHQ2|B4E2S5|Q15122|Q3HY28|Q3HY29|Q5T7T6|Q5T7T7|Q5T7T8	Missense_Mutation	SNP	ENST00000362012.2	37	c.1609C>T	CCDS6842.1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.347855	0.82022	.	.	ENSG00000095303	ENST00000540753;ENST00000362012;ENST00000223423;ENST00000373698	T;T;T;T	0.68181	-0.31;-0.31;-0.31;-0.31	5.41	3.54	0.40534	.	0.096296	0.64402	D	0.000001	D	0.83801	0.5333	M	0.91818	3.245	0.80722	D	1	P;D;D	0.67145	0.883;0.996;0.966	P;D;P	0.64595	0.861;0.927;0.844	D	0.87307	0.2309	10	0.87932	D	0	-20.6001	15.0443	0.71816	0.0:0.7302:0.2698:0.0	.	475;537;500	B4DHQ2;P23219;P23219-2	.;PGH1_HUMAN;.	S	475;537;500;428	ENSP00000437709:P475S;ENSP00000354612:P537S;ENSP00000223423:P500S;ENSP00000362802:P428S	ENSP00000223423:P500S	P	+	1	0	PTGS1	124194453	0.998000	0.40836	0.944000	0.38274	0.953000	0.61014	3.354000	0.52254	0.628000	0.30357	0.655000	0.94253	CCC		0.522	PTGS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053933.1			6	94	0	0	0	1	0	6	94					T	125154632	C	T	125154632	3	4	334	1	0	0	0	0	1	0	0	0	12755	855	30	3	1651	3	PTGS1	9	125154632	Missense_Mutation	SNP	C	TCGA-KK-A8I6-01A-11D-A364-08	29357761	125154632	16058799	18	16972											
GPR158	57512	broad.mit.edu	37	chr10	25464746	25464746	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggacacactgacacacgccAccaacttcctcaacgtgatg	12	7	7	15	2	1	2	1	2	0	0	2	3	2	3	3	1	2	0	3	1	2	1			TCGA-KK-A8I6-01A-11D-A364-08	TCGA-KK-A8I6-11A-12D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b09465a0-6766-4401-8ab3-1f7b0ba892cd	05ab92d0-9cba-4cd0-9f18-31dd0ef37394	g.chr10:25464746A>C	ENST00000376351.3	+	1	756	c.397A>C	c.(397-399)Acc>Ccc	p.T133P	GPR158-AS1_ENST00000449643.1_RNA	NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158	133					protein localization to plasma membrane (GO:0072659)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						GACACACGCCACCAACTTCCT	0.652																																						ENST00000376351.3																			0				breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						c.(397-399)Acc>Ccc		G protein-coupled receptor 158							71	73	72					10																	25464746		2203	4300	6503	SO:0001583	missense	57512					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr10:25464746A>C	AB032962	CCDS31166.1	10p12.31	2012-08-21			ENSG00000151025	ENSG00000151025		"GPCR / Class C : Orphans"	23689	protein-coding gene	gene with protein product		614573					Standard	NM_020752		Approved	KIAA1136	uc001isj.3	Q5T848	OTTHUMG00000017832	ENST00000376351.3:c.397A>C	10.37:g.25464746A>C	ENSP00000365529:p.Thr133Pro					GPR158-AS1_ENST00000449643.1_RNA	p.T133P	NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN			1	756	+			133					Q6QR81|Q9ULT3	Missense_Mutation	SNP	ENST00000376351.3	37	c.397A>C	CCDS31166.1	.	.	.	.	.	.	.	.	.	.	A	18.76	3.692986	0.68271	.	.	ENSG00000151025	ENST00000376351	T	0.76968	-1.06	4.72	3.59	0.41128	.	0.322125	0.28031	N	0.016867	D	0.82444	0.5038	M	0.63843	1.955	0.53005	D	0.999969	P	0.49862	0.929	P	0.59948	0.866	T	0.81883	-0.0728	10	0.72032	D	0.01	.	8.3714	0.32417	0.8394:0.0:0.1606:0.0	.	133	Q5T848	GP158_HUMAN	P	133	ENSP00000365529:T133P	ENSP00000365529:T133P	T	+	1	0	GPR158	25504752	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	3.934000	0.56553	0.850000	0.35239	0.383000	0.25322	ACC		0.652	GPR158-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047248.2	XM_166110		5	78	0	0	0	1	0	5	78					C	25464746	A	C	25464746	3	2	334	1	0	0	0	0	1	0	0	0	6663	159	6	5	399	5	GPR158	10	25464746	Missense_Mutation	SNP	A	TCGA-KK-A8I6-01A-11D-A364-08		25464746	110070001	19	16973											
PTEN	5728	broad.mit.edu	37	chr10	89692911	89692911	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agctggaaagggacgaactgGtgtaatgatatgtgcatatt	13	11	13	4	1	0	1	0	1	0	0	0	4	0	3	0	3	3	3	0	3	5	4	rs121909241		TCGA-KK-A8I6-01A-11D-A364-08	TCGA-KK-A8I6-11A-12D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b09465a0-6766-4401-8ab3-1f7b0ba892cd	05ab92d0-9cba-4cd0-9f18-31dd0ef37394	g.chr10:89692911G>T	ENST00000371953.3	+	5	1752	c.395G>T	c.(394-396)gGt>gTt	p.G132V		NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	132	Phosphatase tensin-type. {ECO:0000255|PROSITE-ProRule:PRU00590}.		G -> V (in one patient with clinical findings suggesting hamartoma tumor syndrome). {ECO:0000269|PubMed:16752378}.		activation of mitotic anaphase-promoting complex activity (GO:0007092)|aging (GO:0007568)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|brain morphogenesis (GO:0048854)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle tissue development (GO:0048738)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|central nervous system myelin maintenance (GO:0032286)|central nervous system neuron axonogenesis (GO:0021955)|dendritic spine morphogenesis (GO:0060997)|dentate gyrus development (GO:0021542)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|innate immune response (GO:0045087)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|learning or memory (GO:0007611)|locomotor rhythm (GO:0045475)|locomotory behavior (GO:0007626)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|male mating behavior (GO:0060179)|maternal behavior (GO:0042711)|memory (GO:0007613)|multicellular organismal response to stress (GO:0033555)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell aging (GO:0090344)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031658)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myelination (GO:0031642)|negative regulation of organ growth (GO:0046621)|negative regulation of phagocytosis (GO:0050765)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of ribosome biogenesis (GO:0090071)|negative regulation of synaptic vesicle clustering (GO:2000808)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell proliferation (GO:0008284)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|postsynaptic density assembly (GO:0097107)|prepulse inhibition (GO:0060134)|presynaptic membrane assembly (GO:0097105)|prostate gland growth (GO:0060736)|protein dephosphorylation (GO:0006470)|protein kinase B signaling (GO:0043491)|protein stabilization (GO:0050821)|regulation of B cell apoptotic process (GO:0002902)|regulation of cellular component size (GO:0032535)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of neuron projection development (GO:0010975)|regulation of protein stability (GO:0031647)|response to arsenic-containing substance (GO:0046685)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse maturation (GO:0060074)|T cell receptor signaling pathway (GO:0050852)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|myelin sheath adaxonal region (GO:0035749)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)	anaphase-promoting complex binding (GO:0010997)|enzyme binding (GO:0019899)|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity (GO:0051717)|lipid binding (GO:0008289)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity (GO:0051800)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.0?(37)|p.?(5)|p.R55fs*1(5)|p.G132D(4)|p.Y27fs*1(2)|p.G132V(1)|p.A121_F145del(1)|p.R130fs*2(1)|p.T131fs*42(1)|p.F56fs*2(1)|p.K128fs*47(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		GGACGAACTGGTGTAATGATA	0.398		31	"D, Mis, N, F, S"		"glioma,  prostate, endometrial"	"harmartoma, glioma,  prostate, endometrial"			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																												ENST00000371953.3		31	yes	Rec	yes	"Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"	10	10q23.3	5728	"D, Mis, N, F, S"	phosphatase and tensin homolog gene			"L, E, M, O"		"harmartoma, glioma,  prostate, endometrial"	"glioma,  prostate, endometrial"		59	Whole gene deletion(37)|Deletion - Frameshift(11)|Substitution - Missense(5)|Unknown(5)|Deletion - In frame(1)	p.0?(37)|p.?(5)|p.R55fs*1(5)|p.G132D(4)|p.Y27fs*1(2)|p.G132V(1)|p.A121_F145del(1)|p.R130fs*2(1)|p.T131fs*42(1)|p.F56fs*2(1)|p.K128fs*47(1)	prostate(16)|central_nervous_system(14)|skin(6)|endometrium(5)|lung(5)|haematopoietic_and_lymphoid_tissue(4)|ovary(4)|breast(3)|soft_tissue(1)|urinary_tract(1)	NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771	GRCh37	CM045431|CM063078|CM074468	PTEN	M	rs121909241	c.(394-396)gGt>gTt		phosphatase and tensin homolog							137	127	130					10																	89692911		2203	4300	6503	SO:0001583	missense	5728	Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	Familial Cancer Database	Incl.: Encephalocraniocutaneous Lipomatosis, ECCL, Proteus-like s.;incl.: Juvenile Polyposis of the Stomach;HMPS1, Colorectal Adenoma Carcinoma syndrome, CRAC, CRAC1;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;subset of PTEN-Hamartoma Tumor Syndrome; incl.: Ruvalcaba-Myhre-Smith s.	activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr10:89692911G>T	U92436	CCDS31238.1	10q23	2014-09-17	2008-07-31		ENSG00000171862	ENSG00000171862		"Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"	9588	protein-coding gene	gene with protein product	"mutated in multiple advanced cancers 1"	601728		BZS, MHAM		9090379	Standard	NM_000314		Approved	MMAC1, TEP1, PTEN1	uc001kfb.3	P60484	OTTHUMG00000018688	ENST00000371953.3:c.395G>T	10.37:g.89692911G>T	ENSP00000361021:p.Gly132Val	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)					p.G132V	NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)	5	1752	+		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	132		G -> V (in one patient with clinical findings suggesting hamartoma tumor syndrome).	Phosphatase tensin-type.		B2R904|F2YHV0|O00633|O02679|Q6ICT7	Missense_Mutation	SNP	ENST00000371953.3	37	c.395G>T	CCDS31238.1	.	.	.	.	.	.	.	.	.	.	G	27.4	4.827556	0.90955	.	.	ENSG00000171862	ENST00000371953	D	0.99532	-6.1	5.22	5.22	0.72569	Phosphatase tensin type (1);Dual specificity phosphatase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.99743	0.9898	M	0.93594	3.435	0.80722	A	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97294	0.9926	8	.	.	.	-10.5526	18.7776	0.91918	0.0:0.0:1.0:0.0	.	132	P60484	PTEN_HUMAN	V	132	ENSP00000361021:G132V	.	G	+	2	0	PTEN	89682891	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.429000	0.97481	2.411000	0.81874	0.655000	0.94253	GGT		0.398	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1	NM_000314		14	51	1	0	4.3838e-07	1	4.70262e-07	14	51					T	89692911	G	T	89692911	3	4	334	1	0	0	0	0	1	0	0	0	12738	1261	44	5	413	5	PTEN	10	89692911	Missense_Mutation	SNP	G	TCGA-KK-A8I6-01A-11D-A364-08	64228165	89692911	45841836	20	16974											
TACC2	10579	broad.mit.edu	37	chr10	123970988	123970988	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atgaccccaattttaaccctTtttcttccacctcaaaaatg	12	14	2	13	0	2	1	1	1	1	0	3	1	3	1	5	0	1	0	5	0	4	5			TCGA-KK-A8I6-01A-11D-A364-08	TCGA-KK-A8I6-11A-12D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b09465a0-6766-4401-8ab3-1f7b0ba892cd	05ab92d0-9cba-4cd0-9f18-31dd0ef37394	g.chr10:123970988T>G	ENST00000369005.1	+	9	7388	c.7048T>G	c.(7048-7050)Ttt>Gtt	p.F2350V	TACC2_ENST00000515273.1_Missense_Mutation_p.F2354V|TACC2_ENST00000260733.3_Missense_Mutation_p.F428V|TACC2_ENST00000515603.1_Missense_Mutation_p.F2305V|TACC2_ENST00000369004.3_Missense_Mutation_p.F428V|TACC2_ENST00000513429.1_Missense_Mutation_p.F496V|TACC2_ENST00000334433.3_Missense_Mutation_p.F2350V|TACC2_ENST00000369000.1_Missense_Mutation_p.F54V|TACC2_ENST00000369001.1_Missense_Mutation_p.F54V|TACC2_ENST00000360561.3_Missense_Mutation_p.F428V|TACC2_ENST00000453444.2_Missense_Mutation_p.F2354V|TACC2_ENST00000368999.1_Missense_Mutation_p.F428V|TACC2_ENST00000358010.1_Missense_Mutation_p.F496V	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	2350	SPAZ.				astral microtubule organization (GO:0030953)|cerebral cortex development (GO:0021987)|interkinetic nuclear migration (GO:0022027)|neurogenesis (GO:0022008)|regulation of microtubule-based process (GO:0032886)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleus (GO:0005634)	nuclear hormone receptor binding (GO:0035257)			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				TTTTAACCCTTTTTCTTCCAC	0.468																																						ENST00000369005.1																			0				NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83						c.(7048-7050)Ttt>Gtt		transforming, acidic coiled-coil containing protein 2							180	195	190					10																	123970988		2203	4300	6503	SO:0001583	missense	10579					microtubule organizing center|nucleus	nuclear hormone receptor binding	g.chr10:123970988T>G	AF095791	CCDS7625.1, CCDS7626.1, CCDS7627.1, CCDS7628.1	10q26	2008-07-29			ENSG00000138162	ENSG00000138162			11523	protein-coding gene	gene with protein product		605302				14767476	Standard	XM_005269388		Approved	AZU-1	uc001lfv.3	O95359	OTTHUMG00000019181	ENST00000369005.1:c.7048T>G	10.37:g.123970988T>G	ENSP00000358001:p.Phe2350Val					TACC2_ENST00000260733.3_Missense_Mutation_p.F428V|TACC2_ENST00000334433.3_Missense_Mutation_p.F2350V|TACC2_ENST00000369000.1_Missense_Mutation_p.F54V|TACC2_ENST00000368999.1_Missense_Mutation_p.F428V|TACC2_ENST00000369004.3_Missense_Mutation_p.F428V|TACC2_ENST00000369001.1_Missense_Mutation_p.F54V|TACC2_ENST00000360561.3_Missense_Mutation_p.F428V|TACC2_ENST00000515603.1_Missense_Mutation_p.F2305V|TACC2_ENST00000515273.1_Missense_Mutation_p.F2354V|TACC2_ENST00000358010.1_Missense_Mutation_p.F496V|TACC2_ENST00000513429.1_Missense_Mutation_p.F496V|TACC2_ENST00000453444.2_Missense_Mutation_p.F2354V	p.F2350V	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN			9	7388	+		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)	2350			SPAZ.		Q4VXL0|Q4VXL3|Q4VXL6|Q4VXL7|Q5U5T7|Q86WG6|Q86WG7|Q8TCK9|Q9BVQ1|Q9NZ41|Q9NZR5	Missense_Mutation	SNP	ENST00000369005.1	37	c.7048T>G	CCDS7626.1	.	.	.	.	.	.	.	.	.	.	T	20.6	4.025718	0.75390	.	.	ENSG00000138162	ENST00000369005;ENST00000513429;ENST00000515273;ENST00000515603;ENST00000334433;ENST00000358010;ENST00000453444;ENST00000340076;ENST00000369001;ENST00000369000;ENST00000360561;ENST00000368999;ENST00000369004;ENST00000260733;ENST00000514539;ENST00000496913	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.65178	1.87;1.4;2.02;1.93;1.87;1.4;2.02;0.08;-0.14;1.23;1.29;1.25;1.24;1.23;0.28	4.74	4.74	0.60224	.	0.000000	0.37623	N	0.002011	T	0.78509	0.4294	M	0.82323	2.585	0.58432	D	0.999999	D;D;D;D;D;D;D;D;D;D	0.89917	1.0;0.999;0.995;0.999;0.999;1.0;1.0;0.999;1.0;0.999	D;D;D;D;D;D;D;D;D;D	0.91635	0.999;0.996;0.985;0.997;0.996;0.998;0.998;0.998;0.998;0.998	T	0.77245	-0.2659	10	0.19590	T	0.45	-9.8863	14.5623	0.68148	0.0:0.0:0.0:1.0	.	445;2354;428;2305;2354;428;428;54;496;2350	E9PGB3;E9PBC6;D6RAA5;E7EMZ9;B7ZMJ9;O95359-6;O95359-1;O95359-2;O95359-5;O95359	.;.;.;.;.;.;.;.;.;TACC2_HUMAN	V	2350;496;2354;2305;2350;496;2354;2340;54;54;428;428;428;428;445;89	ENSP00000358001:F2350V;ENSP00000425062:F496V;ENSP00000424467:F2354V;ENSP00000427618:F2305V;ENSP00000334280:F2350V;ENSP00000350701:F496V;ENSP00000395048:F2354V;ENSP00000357997:F54V;ENSP00000357996:F54V;ENSP00000353763:F428V;ENSP00000357995:F428V;ENSP00000422815:F428V;ENSP00000260733:F428V;ENSP00000420967:F445V;ENSP00000422725:F89V	ENSP00000260733:F428V	F	+	1	0	TACC2	123960978	1.000000	0.71417	0.994000	0.49952	0.974000	0.67602	7.880000	0.87243	1.911000	0.55334	0.454000	0.30748	TTT		0.468	TACC2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090004.1			22	152	0	0	0	1	0	22	152					G	123970988	T	G	123970988	3	3	334	1	0	0	0	0	1	0	0	0	15499	1841	64	5	7150	5	TACC2	10	123970988	Missense_Mutation	SNP	T	TCGA-KK-A8I6-01A-11D-A364-08	34278077	123970988	11563759	21	16975											
MKI67	4288	broad.mit.edu	37	chr10	129907280	129907280	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cattgctttcatcttttcatCgttttcttttaattcaatat	8	23	2	8	1	5	0	3	0	2	0	6	0	5	0	0	0	1	2	0	0	3	10	rs201626061		TCGA-KK-A8I6-01A-11D-A364-08	TCGA-KK-A8I6-11A-12D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b09465a0-6766-4401-8ab3-1f7b0ba892cd	05ab92d0-9cba-4cd0-9f18-31dd0ef37394	g.chr10:129907280C>A	ENST00000368654.3	-	13	3199	c.2824G>T	c.(2824-2826)Gat>Tat	p.D942Y	MKI67_ENST00000484853.1_5'Flank|MKI67_ENST00000368653.3_Missense_Mutation_p.D582Y	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	942					cell proliferation (GO:0008283)|cellular response to heat (GO:0034605)|DNA metabolic process (GO:0006259)|hyaluronan metabolic process (GO:0030212)|meiotic nuclear division (GO:0007126)|organ regeneration (GO:0031100)|response to organic cyclic compound (GO:0014070)	chromosome, centromeric region (GO:0000775)|condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				ATCTTTTCATCGTTTTCTTTT	0.388																																						ENST00000368654.3																			0				NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159						c.(2824-2826)Gat>Tat		marker of proliferation Ki-67							130	126	127					10																	129907280		2203	4299	6502	SO:0001583	missense	4288				cell proliferation	nucleolus	ATP binding|protein C-terminus binding	g.chr10:129907280C>A	X65550	CCDS7659.1, CCDS53588.1	10q26.2	2014-06-12	2013-10-10		ENSG00000148773	ENSG00000148773			7107	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 105"	176741	"antigen identified by monoclonal antibody Ki-67"			2571566, 16206250	Standard	NM_002417		Approved	MIB-, PPP1R105	uc001lke.3	P46013	OTTHUMG00000019255	ENST00000368654.3:c.2824G>T	10.37:g.129907280C>A	ENSP00000357643:p.Asp942Tyr					MKI67_ENST00000368653.3_Missense_Mutation_p.D582Y	p.D942Y	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN			13	3199	-		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)	942					Q5VWH2	Missense_Mutation	SNP	ENST00000368654.3	37	c.2824G>T	CCDS7659.1	.	.	.	.	.	.	.	.	.	.	C	6.994	0.553569	0.13374	.	.	ENSG00000148773	ENST00000368654;ENST00000368653;ENST00000537609	T;T	0.01397	4.99;4.94	3.31	0.919	0.19392	.	1.210510	0.06246	N	0.691167	T	0.00936	0.0031	N	0.08118	0	0.09310	N	1	P;P;P	0.41673	0.475;0.475;0.759	B;B;B	0.32805	0.153;0.153;0.115	T	0.51498	-0.8698	10	0.56958	D	0.05	.	7.6249	0.28206	0.5251:0.4749:0.0:0.0	.	941;582;942	F5H4V4;P46013-2;P46013	.;.;KI67_HUMAN	Y	942;582;941	ENSP00000357643:D942Y;ENSP00000357642:D582Y	ENSP00000357642:D582Y	D	-	1	0	MKI67	129797270	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.265000	0.08644	0.182000	0.20032	-0.397000	0.06425	GAT		0.388	MKI67-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050999.1	NM_002417		36	95	1	0	4.39465e-27	1	4.89215e-27	36	95					A	129907280	C	A	129907280	3	1	334	1	0	0	0	0	1	0	0	0	9598	884	31	5	6958	5	MKI67	10	129907280	Missense_Mutation	SNP	C	TCGA-KK-A8I6-01A-11D-A364-08	5936292	129907280	5627467	22	16976											
UBQLNL	143630	broad.mit.edu	37	chr11	5537357	5537357	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaatgggctagagatctggaGccctgcttggacttgatgac	9	10	14	8	0	1	3	0	2	1	1	1	7	1	5	1	3	2	2	1	3	2	3			TCGA-KK-A8I6-01A-11D-A364-08	TCGA-KK-A8I6-11A-12D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b09465a0-6766-4401-8ab3-1f7b0ba892cd	05ab92d0-9cba-4cd0-9f18-31dd0ef37394	g.chr11:5537357G>A	ENST00000380184.1	-	1	578	c.315C>T	c.(313-315)ggC>ggT	p.G105G	HBG2_ENST00000380259.2_Intron	NM_145053.4	NP_659490.4	Q8IYU4	UBQLN_HUMAN	ubiquilin-like	105	Ubiquitin-like. {ECO:0000255|PROSITE- ProRule:PRU00214}.									endometrium(1)|kidney(3)|large_intestine(9)|lung(13)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	33		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.92e-09)|BRCA - Breast invasive adenocarcinoma(625;0.136)		GAGATCTGGAGCCCTGCTTGG	0.542																																						ENST00000380184.1																			0				endometrium(1)|kidney(3)|large_intestine(9)|lung(13)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	33						c.(313-315)ggC>ggT		ubiquilin-like							194	174	181					11																	5537357		2201	4297	6498	SO:0001819	synonymous_variant	143630							g.chr11:5537357G>A	AK127987	CCDS31385.1	11p15.4	2014-02-12			ENSG00000175518	ENSG00000175518		"Ubiquilin family"	28294	protein-coding gene	gene with protein product							Standard	NM_145053		Approved	MGC20470, MGC26958	uc001maz.4	Q8IYU4	OTTHUMG00000066903	ENST00000380184.1:c.315C>T	11.37:g.5537357G>A						HBG2_ENST00000380259.2_Intron	p.G105G	NM_145053.4	NP_659490.4	Q8IYU4	UBQLN_HUMAN		Epithelial(150;1.92e-09)|BRCA - Breast invasive adenocarcinoma(625;0.136)	1	578	-		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)	105			Ubiquitin-like.		Q6ZRU1|Q96EK3|Q96MB0	Silent	SNP	ENST00000380184.1	37	c.315C>T	CCDS31385.1																																																																																				0.542	UBQLNL-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143386.1	NM_145053		6	82	0	0	0	1	0	6	82					A	5537357	G	A	5537357	2	1	334	1	0	0	0	0	0	0	0	1	16897	958	34	3		3	UBQLNL	11	5537357	Silent	SNP	G	TCGA-KK-A8I6-01A-11D-A364-08		5537357	129469159	23	16977											
RAG1	5896	broad.mit.edu	37	chr11	36597054	36597054	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tctacatttgtactctttgtGatgccacccgtctggaagcc	7	14	8	12	1	3	1	0	1	3	0	3	2	3	2	3	1	4	1	3	1	3	4			TCGA-KK-A8I6-01A-11D-A364-08	TCGA-KK-A8I6-11A-12D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b09465a0-6766-4401-8ab3-1f7b0ba892cd	05ab92d0-9cba-4cd0-9f18-31dd0ef37394	g.chr11:36597054G>C	ENST00000299440.5	+	2	2312	c.2200G>C	c.(2200-2202)Gat>Cat	p.D734H		NM_000448.2	NP_000439	P15918	RAG1_HUMAN	recombination activating gene 1	734					adaptive immune response (GO:0002250)|B cell differentiation (GO:0030183)|DNA recombination (GO:0006310)|histone monoubiquitination (GO:0010390)|immune response (GO:0006955)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of thymocyte apoptotic process (GO:0070244)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|pre-B cell allelic exclusion (GO:0002331)|protein autoubiquitination (GO:0051865)|regulation of T cell differentiation (GO:0045580)|T cell differentiation in thymus (GO:0033077)|T cell homeostasis (GO:0043029)|thymus development (GO:0048538)|V(D)J recombination (GO:0033151)	nucleus (GO:0005634)	acid-amino acid ligase activity (GO:0016881)|DNA binding (GO:0003677)|endonuclease activity (GO:0004519)|histone binding (GO:0042393)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding (GO:0043565)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	65	all_lung(20;0.226)	all_hematologic(20;0.107)				TACTCTTTGTGATGCCACCCG	0.498									Familial Hemophagocytic Lymphohistiocytosis																												Pancreas(43;321 1249 3212 48200)|Esophageal Squamous(38;49 1003 17530 24363)	ENST00000299440.5																			0				NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	65						c.(2200-2202)Gat>Cat		recombination activating gene 1							86	83	84					11																	36597054		2202	4298	6500	SO:0001583	missense	5896	Familial Hemophagocytic Lymphohistiocytosis	Familial Cancer Database	FHLH, FHL, Familial Hemophagocytic Reticulosis, FHR	histone monoubiquitination|immune response|pre-B cell allelic exclusion|protein autoubiquitination|T cell differentiation in thymus|V(D)J recombination	nucleus	endonuclease activity|histone binding|protein homodimerization activity|sequence-specific DNA binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr11:36597054G>C	M29474	CCDS7902.1	11p13	2014-09-17				ENSG00000166349		"RING-type (C3HC4) zinc fingers"	9831	protein-coding gene	gene with protein product	"recombination activating protein 1", "RING finger protein 74", "V(D)J recombination-activating protein 1"	179615				1612612, 1283330	Standard	NM_000448		Approved	RNF74, MGC43321	uc001mwu.4	P15918		ENST00000299440.5:c.2200G>C	11.37:g.36597054G>C	ENSP00000299440:p.Asp734His						p.D734H	NM_000448.2	NP_000439.1	P15918	RAG1_HUMAN			2	2312	+	all_lung(20;0.226)	all_hematologic(20;0.107)	734					E9PPC4|Q8IY72|Q8NER2	Missense_Mutation	SNP	ENST00000299440.5	37	c.2200G>C	CCDS7902.1	.	.	.	.	.	.	.	.	.	.	G	20.5	3.995247	0.74703	.	.	ENSG00000166349	ENST00000534663;ENST00000299440	D;D	0.87179	-2.22;-2.22	6.13	6.13	0.99165	Zinc finger, C2H2-like (1);	0.000000	0.85682	D	0.000000	D	0.95726	0.8610	M	0.94021	3.485	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.95709	0.8756	10	0.87932	D	0	.	20.8401	0.99726	0.0:0.0:1.0:0.0	.	734	P15918	RAG1_HUMAN	H	734	ENSP00000434610:D734H;ENSP00000299440:D734H	ENSP00000299440:D734H	D	+	1	0	RAG1	36553630	1.000000	0.71417	0.998000	0.56505	0.974000	0.67602	9.476000	0.97823	2.932000	0.99384	0.644000	0.83932	GAT		0.498	RAG1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389535.1	NM_000448		10	80	0	0	0	1	0	10	80					C	36597054	G	C	36597054	3	2	334	1	0	0	0	0	1	0	0	0	13003	1290	45	5	2202	5	RAG1	11	36597054	Missense_Mutation	SNP	G	TCGA-KK-A8I6-01A-11D-A364-08	31059697	36597054	98409462	24	16978											
PEX16	9409	broad.mit.edu	37	chr11	45937359	45937359	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcactccagcacgctcagcCatgtcagcagcttctgctgg	7	8	10	16	2	3	0	2	0	1	0	4	0	4	0	2	1	5	6	2	1	0	1			TCGA-KK-A8I6-01A-11D-A364-08	TCGA-KK-A8I6-11A-12D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b09465a0-6766-4401-8ab3-1f7b0ba892cd	05ab92d0-9cba-4cd0-9f18-31dd0ef37394	g.chr11:45937359C>T	ENST00000378750.5	-	4	497	c.254G>A	c.(253-255)tGg>tAg	p.W85*	PEX16_ENST00000532681.1_5'UTR|PEX16_ENST00000532554.1_Intron|PEX16_ENST00000241041.3_Nonsense_Mutation_p.W85*			Q9Y5Y5	PEX16_HUMAN	peroxisomal biogenesis factor 16	85					ER-dependent peroxisome organization (GO:0032581)|peroxisome membrane biogenesis (GO:0016557)|peroxisome organization (GO:0007031)|protein import into peroxisome matrix (GO:0016558)|protein import into peroxisome membrane (GO:0045046)|protein localization to endoplasmic reticulum (GO:0070972)|protein targeting to peroxisome (GO:0006625)|protein to membrane docking (GO:0022615)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of peroxisomal membrane (GO:0005779)|membrane (GO:0016020)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	protein C-terminus binding (GO:0008022)			large_intestine(2)|lung(2)|ovary(2)|skin(1)	7				GBM - Glioblastoma multiforme(35;0.223)		CACGCTCAGCCATGTCAGCAG	0.632																																						ENST00000241041.3																			0				large_intestine(2)|lung(2)|ovary(2)|skin(1)	7						c.(253-255)tGg>tAg		peroxisomal biogenesis factor 16							147	149	148					11																	45937359		2203	4299	6502	SO:0001587	stop_gained	9409				ER-dependent peroxisome organization|peroxisome membrane biogenesis|protein import into peroxisome matrix|protein import into peroxisome membrane	endoplasmic reticulum membrane|integral to peroxisomal membrane	protein C-terminus binding	g.chr11:45937359C>T	AF118240	CCDS7917.1, CCDS31472.1	11p	2007-12-14			ENSG00000121680	ENSG00000121680			8857	protein-coding gene	gene with protein product		603360				9922452	Standard	NM_057174		Approved		uc001nbt.3	Q9Y5Y5	OTTHUMG00000167005	ENST00000378750.5:c.254G>A	11.37:g.45937359C>T	ENSP00000368024:p.Trp85*					PEX16_ENST00000378750.5_Nonsense_Mutation_p.W85*|PEX16_ENST00000532681.1_5'UTR|PEX16_ENST00000532554.1_Intron	p.W85*	NM_004813.2|NM_057174.2	NP_004804.1|NP_476515.1	Q9Y5Y5	PEX16_HUMAN		GBM - Glioblastoma multiforme(35;0.223)	4	271	-			85					Q9BWB9	Nonsense_Mutation	SNP	ENST00000378750.5	37	c.254G>A	CCDS31472.1	.	.	.	.	.	.	.	.	.	.	C	25.8	4.678964	0.88542	.	.	ENSG00000121680	ENST00000241041;ENST00000378750	.	.	.	4.99	4.99	0.66335	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-20.9161	18.2326	0.89938	0.0:1.0:0.0:0.0	.	.	.	.	X	85	.	ENSP00000241041:W85X	W	-	2	0	PEX16	45893935	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.206000	0.77891	2.480000	0.83734	0.561000	0.74099	TGG		0.632	PEX16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392398.1	NM_057174		10	128	0	0	0	1	0	10	128					T	45937359	C	T	45937359	4	4	334	1	0	0	0	0	0	1	0	0	11743	595	21	3	881	3	PEX16	11	45937359	Nonsense_Mutation	SNP	C	TCGA-KK-A8I6-01A-11D-A364-08	9340305	45937359	89069157	25	16979											
OR4A5	81318	broad.mit.edu	37	chr11	51412102	51412102	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aagaaatggtctataaatagCtggcccatgcaaccttggaa	15	9	9	8	0	1	1	0	0	1	1	1	2	1	2	2	3	3	2	2	3	8	4			TCGA-KK-A8I6-01A-11D-A364-08	TCGA-KK-A8I6-11A-12D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b09465a0-6766-4401-8ab3-1f7b0ba892cd	05ab92d0-9cba-4cd0-9f18-31dd0ef37394	g.chr11:51412102C>A	ENST00000319760.6	-	1	346	c.294G>T	c.(292-294)caG>caT	p.Q98H		NM_001005272.3	NP_001005272.3	Q8NH83	OR4A5_HUMAN	olfactory receptor, family 4, subfamily A, member 5	98						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(28)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	49		all_lung(304;0.236)				CTATAAATAGCTGGCCCATGC	0.433																																						ENST00000319760.6																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(28)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	49						c.(292-294)caG>caT		olfactory receptor, family 4, subfamily A, member 5							65	67	66					11																	51412102		2201	4296	6497	SO:0001583	missense	81318				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:51412102C>A	AB065506	CCDS73289.1	11p11.12	2012-08-09			ENSG00000221840	ENSG00000221840		"GPCR / Class A : Olfactory receptors"	15162	protein-coding gene	gene with protein product							Standard	NM_001005272		Approved		uc001nhi.2	Q8NH83	OTTHUMG00000166764	ENST00000319760.6:c.294G>T	11.37:g.51412102C>A	ENSP00000367664:p.Gln98His						p.Q98H	NM_001005272.3	NP_001005272.3	Q8NH83	OR4A5_HUMAN			1	346	-		all_lung(304;0.236)	98					Q6IF84	Missense_Mutation	SNP	ENST00000319760.6	37	c.294G>T	CCDS31497.1	.	.	.	.	.	.	.	.	.	.	.	2.506	-0.314127	0.05422	.	.	ENSG00000221840	ENST00000319760	T	0.01240	5.12	1.93	0.953	0.19590	GPCR, rhodopsin-like superfamily (1);	0.000000	0.45126	D	0.000391	T	0.05640	0.0148	H	0.98446	4.235	0.27345	N	0.956419	B	0.28082	0.2	B	0.33620	0.167	T	0.11348	-1.0591	10	0.87932	D	0	.	4.4439	0.11588	0.0:0.6505:0.0:0.3495	.	98	Q8NH83	OR4A5_HUMAN	H	98	ENSP00000367664:Q98H	ENSP00000367664:Q98H	Q	-	3	2	OR4A5	51268678	0.000000	0.05858	0.166000	0.22797	0.015000	0.08874	-0.383000	0.07398	0.377000	0.24735	-1.608000	0.00805	CAG		0.433	OR4A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391399.1	NM_001005272		21	38	1	0	2.27731e-05	1	2.3993e-05	21	38					A	51412102	C	A	51412102	3	1	334	1	0	0	0	0	1	0	0	0	11043	796	28	5	657	5	OR4A5	11	51412102	Missense_Mutation	SNP	C	TCGA-KK-A8I6-01A-11D-A364-08	5474743	51412102	83594414	26	16980											
CATSPER1	117144	broad.mit.edu	37	chr11	65793293	65793293	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tggtggaaggactcactgtaGggattgggtccatgggggag	8	9	19	5	0	1	0	1	0	0	0	2	4	2	4	1	7	0	1	1	7	2	2			TCGA-KK-A8I6-01A-11D-A364-08	TCGA-KK-A8I6-11A-12D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b09465a0-6766-4401-8ab3-1f7b0ba892cd	05ab92d0-9cba-4cd0-9f18-31dd0ef37394	g.chr11:65793293G>A	ENST00000312106.5	-	1	695	c.558C>T	c.(556-558)ccC>ccT	p.P186P		NM_053054.3	NP_444282.3	Q8NEC5	CTSR1_HUMAN	cation channel, sperm associated 1	186	His-rich.				calcium ion import (GO:0070509)|cell differentiation (GO:0030154)|fusion of sperm to egg plasma membrane (GO:0007342)|membrane depolarization during action potential (GO:0086010)|multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|regulation of calcium ion transport (GO:0051924)|regulation of cilium beat frequency involved in ciliary motility (GO:0060296)|single fertilization (GO:0007338)|sperm motility (GO:0030317)|sperm-egg recognition (GO:0035036)|spermatogenesis (GO:0007283)	CatSper complex (GO:0036128)|motile cilium (GO:0031514)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|voltage-gated calcium channel activity (GO:0005245)			breast(3)|central_nervous_system(1)|endometrium(9)|kidney(3)|large_intestine(6)|liver(3)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44						ACTCACTGTAGGGATTGGGTC	0.602																																						ENST00000312106.5																			0				breast(3)|central_nervous_system(1)|endometrium(9)|kidney(3)|large_intestine(6)|liver(3)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44						c.(556-558)ccC>ccT		cation channel, sperm associated 1							64	61	62					11																	65793293		2201	4296	6497	SO:0001819	synonymous_variant	117144				cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	protein binding	g.chr11:65793293G>A	AF407333	CCDS8127.1	11q12.1	2011-07-05			ENSG00000175294	ENSG00000175294		"Voltage-gated ion channels / Cation channels, sperm associated"	17116	protein-coding gene	gene with protein product		606389				11675491, 11595941, 16382101	Standard	NM_053054		Approved	CATSPER	uc001ogt.3	Q8NEC5	OTTHUMG00000166668	ENST00000312106.5:c.558C>T	11.37:g.65793293G>A							p.P186P	NM_053054.3	NP_444282.3	Q8NEC5	CTSR1_HUMAN			1	695	-			186			His-rich.		Q96P76	Silent	SNP	ENST00000312106.5	37	c.558C>T	CCDS8127.1																																																																																				0.602	CATSPER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391055.1	NM_053054		5	55	0	0	0	1	0	5	55					A	65793293	G	A	65793293	2	1	334	1	0	0	0	0	0	0	0	1	2687	987	35	3		3	CATSPER1	11	65793293	Silent	SNP	G	TCGA-KK-A8I6-01A-11D-A364-08	14381191	65793293	69213223	27	16981											
SF3B2	10992	broad.mit.edu	37	chr11	65826471	65826471	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	actgaagaacctgaaatttaCgagcccaactttatcttctt	13	13	5	10	1	2	3	0	2	2	1	2	4	2	3	2	0	4	0	2	0	6	6	rs61736588		TCGA-KK-A8I6-01A-11D-A364-08	TCGA-KK-A8I6-11A-12D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b09465a0-6766-4401-8ab3-1f7b0ba892cd	05ab92d0-9cba-4cd0-9f18-31dd0ef37394	g.chr11:65826471C>T	ENST00000322535.6	+	10	1186	c.1137C>T	c.(1135-1137)taC>taT	p.Y379Y	SF3B2_ENST00000528302.1_Silent_p.Y362Y	NM_006842.2	NP_006833.2	Q13435	SF3B2_HUMAN	splicing factor 3b, subunit 2, 145kDa	379					gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|viral process (GO:0016032)	catalytic step 2 spliceosome (GO:0071013)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U12-type spliceosomal complex (GO:0005689)	poly(A) RNA binding (GO:0044822)			breast(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(2)|lung(14)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	41						CTGAAATTTACGAGCCCAACT	0.507													C|||	1	0.000199681	0	0.0014	5008	,	,		17870	0		0	False		,,,				2504	0					ENST00000528302.1																			0				breast(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(2)|lung(14)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	41						c.(1084-1086)taC>taT		splicing factor 3b, subunit 2, 145kDa		C		0,4402		0,0,2201	91	90	91		1137	-2.7	1	11	dbSNP_129	91	1,8589	1.2+/-3.3	0,1,4294	no	coding-synonymous	SF3B2	NM_006842.2		0,1,6495	TT,TC,CC		0.0116,0.0,0.0077		379/896	65826471	1,12991	2201	4295	6496	SO:0001819	synonymous_variant	10992				interspecies interaction between organisms	catalytic step 2 spliceosome|nucleoplasm|U12-type spliceosomal complex	nucleic acid binding|protein binding	g.chr11:65826471C>T	U41371	CCDS31612.1	11q13	2010-07-21	2002-08-29		ENSG00000087365	ENSG00000087365			10769	protein-coding gene	gene with protein product		605591	"splicing factor 3b, subunit 2, 145kD"			8566756	Standard	XM_005273726		Approved	SAP145, SF3b1, Cus1, SF3b145	uc001ogy.1	Q13435	OTTHUMG00000166751	ENST00000322535.6:c.1137C>T	11.37:g.65826471C>T						SF3B2_ENST00000322535.6_Silent_p.Y379Y	p.Y362Y			Q13435	SF3B2_HUMAN			9	1140	+			379					A8K485|B4DT19|Q7L4T5|Q7Z627|Q969K1|Q96CM6|Q9BWD2	Silent	SNP	ENST00000322535.6	37	c.1086C>T	CCDS31612.1																																																																																				0.507	SF3B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391352.2			3	75	0	0	0	1	0	3	75					T	65826471	C	T	65826471	2	4	334	1	0	0	0	0	0	0	0	1	14151	547	19	1		1	SF3B2	11	65826471	Silent	SNP	C	TCGA-KK-A8I6-01A-11D-A364-08	33178	65826471	69180045	28	16982											
TMEM136	219902	broad.mit.edu	37	chr11	120198157	120198157	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cttttcatcacaggatggcaTtagctctgtgtctgcaggtg	7	14	11	9	0	4	0	2	0	2	0	4	1	4	1	0	3	2	3	0	3	1	3			TCGA-KK-A8I6-01A-11D-A364-08	TCGA-KK-A8I6-11A-12D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b09465a0-6766-4401-8ab3-1f7b0ba892cd	05ab92d0-9cba-4cd0-9f18-31dd0ef37394	g.chr11:120198157T>C	ENST00000375095.2	+	2	248	c.7T>C	c.(7-9)Tta>Cta	p.L3L	TMEM136_ENST00000314475.2_Silent_p.L25L|TMEM136_ENST00000529187.1_Silent_p.L25L|TMEM136_ENST00000531346.1_Intron	NM_001198671.1|NM_001198672.1|NM_001198673.1|NM_001198674.1|NM_001198675.1	NP_001185600.1|NP_001185601.1|NP_001185602.1|NP_001185603.1|NP_001185604.1	Q6ZRR5	TM136_HUMAN	transmembrane protein 136	3						integral component of membrane (GO:0016021)				endometrium(1)|lung(2)|ovary(1)	4		Breast(109;0.00663)|Medulloblastoma(222;0.0523)|Hepatocellular(160;0.206)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;5.07e-06)		CAGGATGGCATTAGCTCTGTG	0.448																																						ENST00000375095.2																			0				endometrium(1)|lung(2)|ovary(1)	4						c.(7-9)Tta>Cta		transmembrane protein 136							169	155	160					11																	120198157		2203	4299	6502	SO:0001819	synonymous_variant	219902					integral to membrane		g.chr11:120198157T>C	BC015232	CCDS8432.1, CCDS55792.1, CCDS55793.1	11q23.3	2006-11-24				ENSG00000181264			28280	protein-coding gene	gene with protein product						12477932	Standard	NM_174926		Approved	MGC17839	uc001pxj.3	Q6ZRR5		ENST00000375095.2:c.7T>C	11.37:g.120198157T>C						TMEM136_ENST00000529187.1_Silent_p.L25L|TMEM136_ENST00000531346.1_Intron|TMEM136_ENST00000314475.2_Silent_p.L25L	p.L3L	NM_001198671.1|NM_001198672.1|NM_001198673.1|NM_001198674.1|NM_001198675.1	NP_001185600.1|NP_001185601.1|NP_001185602.1|NP_001185603.1|NP_001185604.1	Q6ZRR5	TM136_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.07e-06)	2	248	+		Breast(109;0.00663)|Medulloblastoma(222;0.0523)|Hepatocellular(160;0.206)|all_neural(223;0.224)	3					B4DGQ4|B4E230|Q8IZ79	Silent	SNP	ENST00000375095.2	37	c.7T>C	CCDS55793.1																																																																																				0.448	TMEM136-002	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388045.1	NM_174926		8	68	0	0	0	1	0	8	68					C	120198157	T	C	120198157	2	2	334	1	0	0	0	0	0	0	0	1	16049	1490	52	4		4	TMEM136	11	120198157	Silent	SNP	T	TCGA-KK-A8I6-01A-11D-A364-08	54371686	120198157	14808359	29	16983											
CHD4	1108	broad.mit.edu	37	chr12	6711235	6711235	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcttcttcttgccaggagtaTagtcgctgccctcactgtct	5	15	8	13	1	5	0	1	0	4	0	6	1	5	1	2	1	2	2	2	1	2	5			TCGA-KK-A8I6-01A-11D-A364-08	TCGA-KK-A8I6-11A-12D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b09465a0-6766-4401-8ab3-1f7b0ba892cd	05ab92d0-9cba-4cd0-9f18-31dd0ef37394	g.chr12:6711235T>C	ENST00000357008.2	-	4	492	c.329A>G	c.(328-330)tAt>tGt	p.Y110C	CHD4_ENST00000544040.1_Missense_Mutation_p.Y103C|CHD4_ENST00000544484.1_Missense_Mutation_p.Y107C|CHD4_ENST00000309577.6_Missense_Mutation_p.Y110C	NM_001273.2	NP_001264.2	Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	110					ATP-dependent chromatin remodeling (GO:0043044)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|spindle assembly (GO:0051225)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|NuRD complex (GO:0016581)|protein complex (GO:0043234)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|RNA polymerase II repressing transcription factor binding (GO:0001103)|zinc ion binding (GO:0008270)			central_nervous_system(2)	2						GCCAGGAGTATAGTCGCTGCC	0.552																																					Colon(32;586 792 4568 16848 45314)	ENST00000309577.6																			0				central_nervous_system(2)	2						c.(328-330)tAt>tGt		chromodomain helicase DNA binding protein 4							32	35	34					12																	6711235		2203	4298	6501	SO:0001583	missense	1108				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding	g.chr12:6711235T>C	X86691	CCDS8552.1	12p13	2013-01-28				ENSG00000111642		"Zinc fingers, PHD-type"	1919	protein-coding gene	gene with protein product		603277				7575689, 8843877	Standard	XM_006718958		Approved	Mi-2b, Mi2-BETA	uc001qpo.3	Q14839		ENST00000357008.2:c.329A>G	12.37:g.6711235T>C	ENSP00000349508:p.Tyr110Cys					CHD4_ENST00000357008.2_Missense_Mutation_p.Y110C|CHD4_ENST00000544484.1_Missense_Mutation_p.Y107C|CHD4_ENST00000544040.1_Missense_Mutation_p.Y103C	p.Y110C			Q14839	CHD4_HUMAN			4	492	-			110					Q8IXZ5	Missense_Mutation	SNP	ENST00000357008.2	37	c.329A>G	CCDS8552.1	.	.	.	.	.	.	.	.	.	.	T	16.60	3.167273	0.57476	.	.	ENSG00000111642	ENST00000544484;ENST00000544040;ENST00000309577;ENST00000357008;ENST00000537464;ENST00000545942;ENST00000545584	D;D;D;D;T	0.91407	-2.79;-2.82;-2.81;-2.84;0.47	5.64	5.64	0.86602	.	0.000000	0.64402	D	0.000001	D	0.95001	0.8382	M	0.74467	2.265	0.80722	D	1	D;D;D	0.89917	1.0;0.999;0.999	D;D;D	0.85130	0.997;0.99;0.995	D	0.95502	0.8578	10	0.87932	D	0	.	15.851	0.78930	0.0:0.0:0.0:1.0	.	110;110;103	Q14839-2;Q14839;F5GWX5	.;CHD4_HUMAN;.	C	107;103;110;110;84;110;103	ENSP00000440392:Y107C;ENSP00000440542:Y103C;ENSP00000312419:Y110C;ENSP00000349508:Y110C;ENSP00000437506:Y110C	ENSP00000312419:Y110C	Y	-	2	0	CHD4	6581496	1.000000	0.71417	0.999000	0.59377	0.977000	0.68977	7.698000	0.84413	2.152000	0.67230	0.477000	0.44152	TAT		0.552	CHD4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001273		9	39	0	0	0	1	0	9	39					C	6711235	T	C	6711235	3	2	334	1	0	0	0	0	1	0	0	0	3327	1406	49	4	5557	4	CHD4	12	6711235	Missense_Mutation	SNP	T	TCGA-KK-A8I6-01A-11D-A364-08		6711235	127140660	30	16984											
ARID2	196528	broad.mit.edu	37	chr12	46244876	46244876	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtccctactgccatgtcgtcGtcctctacccctcaatcaca	7	11	5	18	2	3	0	2	0	1	0	7	0	5	0	5	0	3	0	5	0	3	2	rs78234941	byFrequency	TCGA-KK-A8I6-01A-11D-A364-08	TCGA-KK-A8I6-11A-12D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b09465a0-6766-4401-8ab3-1f7b0ba892cd	05ab92d0-9cba-4cd0-9f18-31dd0ef37394	g.chr12:46244876G>A	ENST00000334344.6	+	15	3142	c.2970G>A	c.(2968-2970)tcG>tcA	p.S990S	ARID2_ENST00000479608.1_3'UTR|ARID2_ENST00000422737.1_Silent_p.S841S|ARID2_ENST00000457135.1_5'Flank|ARID2_ENST00000444670.1_Silent_p.S600S	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	990	Gln-rich.				chromatin modification (GO:0016568)|nucleosome disassembly (GO:0006337)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		CCATGTCGTCGTCCTCTACCC	0.498			"N, S, F"		hepatocellular carcinoma								G|||	2	0.000399361	8e-04	0	5008	,	,		24572	0		0.001	False		,,,				2504	0					ENST00000334344.6				Rec	yes		12	12q12	196528	"N, S, F"	AT rich interactive domain 2			E			hepatocellular carcinoma		0				NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116						c.(2968-2970)tcG>tcA		AT rich interactive domain 2 (ARID, RFX-like)		G		0,4406		0,0,2203	250	217	229		2970	-11.3	0.6	12	dbSNP_131	229	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	ARID2	NM_152641.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		990/1836	46244876	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	196528				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr12:46244876G>A		CCDS31783.1	12q13.11	2013-02-07			ENSG00000189079	ENSG00000189079		"-"	18037	protein-coding gene	gene with protein product		609539					Standard	NM_152641		Approved	KIAA1557, DKFZp686G052, FLJ30619, BAF200	uc001ros.1	Q68CP9	OTTHUMG00000150487	ENST00000334344.6:c.2970G>A	12.37:g.46244876G>A						ARID2_ENST00000422737.1_Silent_p.S841S|ARID2_ENST00000479608.1_3'UTR|ARID2_ENST00000444670.1_Silent_p.S600S	p.S990S	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)	15	3142	+	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	990			Gln-rich.		Q15KG9|Q5EB51|Q645I3|Q6ZRY5|Q7Z3I5|Q86T28|Q96SJ6|Q9HCL5	Silent	SNP	ENST00000334344.6	37	c.2970G>A	CCDS31783.1																																																																																				0.498	ARID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318380.2	XM_350875		9	86	0	0	0	1	0	9	86					A	46244876	G	A	46244876	2	1	334	1	0	0	0	0	0	0	0	1	915	1132	40	1		1	ARID2	12	46244876	Silent	SNP	G	TCGA-KK-A8I6-01A-11D-A364-08	39533641	46244876	87607019	31	16985											
C12orf26	84190	broad.mit.edu	37	chr12	82796857	82796857	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaatcaagggagtttgcagTgtgggttgttgctaccacct	9	12	13	7	0	1	0	1	0	0	0	1	2	1	1	2	2	3	5	2	2	3	4			TCGA-KK-A8I6-01A-11D-A364-08	TCGA-KK-A8I6-11A-12D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b09465a0-6766-4401-8ab3-1f7b0ba892cd	05ab92d0-9cba-4cd0-9f18-31dd0ef37394	g.chr12:82796857T>C	ENST00000248306.3	+	5	1296	c.1227T>C	c.(1225-1227)agT>agC	p.S409S	METTL25_ENST00000547357.1_3'UTR	NM_032230.2	NP_115606.2	Q8N6Q8	MET25_HUMAN	methyltransferase like 25	409							methyltransferase activity (GO:0008168)										GAGTTTGCAGTGTGGGTTGTT	0.393																																						ENST00000248306.3																			0											c.(1225-1227)agT>agC		methyltransferase like 25							99	94	95					12																	82796857		2203	4300	6503	SO:0001819	synonymous_variant	84190							g.chr12:82796857T>C	BC029120	CCDS9024.1	12q21.31	2012-08-13	2012-08-13	2012-08-13	ENSG00000127720	ENSG00000127720			26228	protein-coding gene	gene with protein product			"chromosome 12 open reading frame 26"	C12orf26			Standard	NM_032230		Approved	FLJ22789	uc001szq.3	Q8N6Q8	OTTHUMG00000170252	ENST00000248306.3:c.1227T>C	12.37:g.82796857T>C						METTL25_ENST00000547357.1_3'UTR	p.S409S	NM_032230.2	NP_115606.2					5	1296	+								Q9H5Y3	Silent	SNP	ENST00000248306.3	37	c.1227T>C	CCDS9024.1																																																																																				0.393	METTL25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408192.1	NM_032230		7	45	0	0	0	1	0	7	45					C	82796857	T	C	82796857	2	2	334	1	0	0	0	0	0	0	0	1	1679	1693	59	4		4	C12orf26	12	82796857	Silent	SNP	T	TCGA-KK-A8I6-01A-11D-A364-08	36551981	82796857	51055038	32	16986											
MDGA2	161357	broad.mit.edu	37	chr14	47600938	47600938	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgttttattggacagtctaaAcgacaccatcttatcaggaa	13	13	7	8	1	3	0	1	0	2	0	3	3	3	2	1	2	1	1	1	2	5	5			TCGA-KK-A8I6-01A-11D-A364-08	TCGA-KK-A8I6-11A-12D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b09465a0-6766-4401-8ab3-1f7b0ba892cd	05ab92d0-9cba-4cd0-9f18-31dd0ef37394	g.chr14:47600938A>C	ENST00000399232.2	-	5	1061	c.697T>G	c.(697-699)Ttt>Gtt	p.F233V	MDGA2_ENST00000439988.3_Missense_Mutation_p.F302V|MDGA2_ENST00000357362.3_Missense_Mutation_p.F4V|MDGA2_ENST00000426342.1_Missense_Mutation_p.F4V	NM_001113498.2	NP_001106970.3	Q7Z553	MDGA2_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 2	233					pattern specification process (GO:0007389)|spinal cord motor neuron differentiation (GO:0021522)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5)	76						GACAGTCTAAACGACACCATC	0.318																																						ENST00000426342.1																			0				breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5)	76						c.(10-12)Ttt>Gtt		MAM domain containing glycosylphosphatidylinositol anchor 2							126	114	118					14																	47600938		1863	4100	5963	SO:0001583	missense	161357				spinal cord motor neuron differentiation	anchored to membrane|plasma membrane		g.chr14:47600938A>C	AI859192	CCDS41948.1, CCDS45098.1, CCDS45098.2, CCDS45098.3	14q21.2	2013-01-29	2007-04-03	2007-04-03	ENSG00000139915	ENSG00000139915		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	19835	protein-coding gene	gene with protein product		611128	"MAM domain containing 1"	MAMDC1		15019943	Standard	NM_001113498		Approved		uc001wwj.4	Q7Z553	OTTHUMG00000029429	ENST00000399232.2:c.697T>G	14.37:g.47600938A>C	ENSP00000382178:p.Phe233Val					MDGA2_ENST00000439988.2_Missense_Mutation_p.F233V|MDGA2_ENST00000399232.2_Missense_Mutation_p.F302V|MDGA2_ENST00000357362.3_Missense_Mutation_p.F4V	p.F4V	NM_182830.3	NP_878250.2	Q7Z553	MDGA2_HUMAN			5	756	-			233					F6W3S7|J3KPX6	Missense_Mutation	SNP	ENST00000399232.2	37	c.10T>G		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	22.6|22.6	4.315289|4.315289	0.81358|0.81358	.|.	.|.	ENSG00000139915|ENSG00000139915	ENST00000439988;ENST00000426342;ENST00000399232;ENST00000357362|ENST00000554762	T;T;T;T|.	0.59224|.	0.99;0.28;0.99;0.28|.	5.34|5.34	5.34|5.34	0.76211|0.76211	Immunoglobulin subtype (1);|.	0.000000|.	0.53938|.	U|.	0.000054|.	T|T	0.68495|0.68495	0.3007|0.3007	L|L	0.55481|0.55481	1.735|1.735	0.80722|0.80722	D|D	1|1	D|.	0.76494|.	0.999|.	D|.	0.75020|.	0.985|.	T|T	0.67086|0.67086	-0.5759|-0.5759	10|5	0.87932|.	D|.	0|.	.|.	14.4248|14.4248	0.67207|0.67207	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	233|.	Q7Z553|.	MDGA2_HUMAN|.	V|G	233;4;302;4|35	ENSP00000400011:F233V;ENSP00000405456:F4V;ENSP00000382178:F302V;ENSP00000349925:F4V|.	ENSP00000349925:F4V|.	F|V	-|-	1|2	0|0	MDGA2|MDGA2	46670688|46670688	1.000000|1.000000	0.71417|0.71417	0.991000|0.991000	0.47740|0.47740	0.922000|0.922000	0.55478|0.55478	8.728000|8.728000	0.91484|0.91484	2.145000|2.145000	0.66743|0.66743	0.477000|0.477000	0.44152|0.44152	TTT|GTT		0.318	MDGA2-001	KNOWN	upstream_ATG|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000073352.5	NM_182830		32	99	0	0	0	1	0	32	99					C	47600938	A	C	47600938	3	2	334	1	0	0	0	0	1	0	0	0	9407	43	2	5	2225	5	MDGA2	14	47600938	Missense_Mutation	SNP	A	TCGA-KK-A8I6-01A-11D-A364-08		47600938	59748602	33	16987											
MEFV	4210	broad.mit.edu	37	chr16	3304558	3304558	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtccgaggcttgccctgcgcGtccaggccctccgaggcctt	3	8	13	17	4	0	0	0	0	0	0	3	2	3	0	6	3	2	1	6	3	0	2			TCGA-KK-A8I6-01A-11D-A364-08	TCGA-KK-A8I6-11A-12D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b09465a0-6766-4401-8ab3-1f7b0ba892cd	05ab92d0-9cba-4cd0-9f18-31dd0ef37394	g.chr16:3304558G>A	ENST00000219596.1	-	2	549	c.510C>T	c.(508-510)gaC>gaT	p.D170D	MEFV_ENST00000541159.1_Intron|MEFV_ENST00000536379.1_Intron|MEFV_ENST00000339854.4_Intron	NM_000243.2	NP_000234.1	O15553	MEFV_HUMAN	Mediterranean fever	170					inflammatory response (GO:0006954)|innate immune response (GO:0045087)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 beta production (GO:0032691)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of macrophage inflammatory protein 1 alpha production (GO:0071641)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of cysteine-type endopeptidase activity (GO:2001056)	cell projection (GO:0042995)|cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|nucleus (GO:0005634)	actin binding (GO:0003779)|zinc ion binding (GO:0008270)			NS(2)|biliary_tract(1)|breast(5)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(3)|prostate(1)|skin(6)	50						TGCCCTGCGCGTCCAGGCCCT	0.766																																						ENST00000219596.1																			0				NS(2)|biliary_tract(1)|breast(5)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(3)|prostate(1)|skin(6)	50						c.(508-510)gaC>gaT		Mediterranean fever	Colchicine(DB01394)						5	5	5					16																	3304558		2082	4113	6195	SO:0001819	synonymous_variant	4210				inflammatory response	cytoplasm|microtubule|microtubule associated complex|nucleus	actin binding|zinc ion binding	g.chr16:3304558G>A	AF018080	CCDS10498.1, CCDS55981.1	16p13.3	2014-09-17			ENSG00000103313	ENSG00000103313		"Tripartite motif containing / Tripartite motif containing"	6998	protein-coding gene	gene with protein product	"pyrin"	608107		MEF		9288094	Standard	NM_000243		Approved	FMF, TRIM20	uc002cun.1	O15553	OTTHUMG00000129324	ENST00000219596.1:c.510C>T	16.37:g.3304558G>A						MEFV_ENST00000541159.1_Intron|MEFV_ENST00000536379.1_Intron|MEFV_ENST00000339854.4_Intron	p.D170D	NM_000243.2	NP_000234.1	O15553	MEFV_HUMAN			2	549	-			170					D3DUC0|F5H0Q3|Q3MJ84|Q96PN4|Q96PN5	Silent	SNP	ENST00000219596.1	37	c.510C>T	CCDS10498.1																																																																																				0.766	MEFV-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251464.1	NM_000243		3	6	0	0	0	1	0	3	6					A	3304558	G	A	3304558	2	1	334	1	0	0	0	0	0	0	0	1	9459	1136	40	1		1	MEFV	16	3304558	Silent	SNP	G	TCGA-KK-A8I6-01A-11D-A364-08		3304558	87050195	34	16988											
GPR114	221188	broad.mit.edu	37	chr16	57608859	57608859	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcgggagcgggcggatgcAccaagtgtcagggcctgcca	7	5	17	12	3	1	0	1	0	0	0	1	2	1	2	3	4	4	1	3	4	1	0			TCGA-KK-A8I6-01A-11D-A364-08	TCGA-KK-A8I6-11A-12D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b09465a0-6766-4401-8ab3-1f7b0ba892cd	05ab92d0-9cba-4cd0-9f18-31dd0ef37394	g.chr16:57608859A>T	ENST00000340339.4	+	11	1864	c.1341A>T	c.(1339-1341)gcA>gcT	p.A447A	GPR114_ENST00000394361.4_3'UTR|GPR114_ENST00000349457.3_Silent_p.A447A	NM_153837.1	NP_722579.1	Q8IZF4	GP114_HUMAN	G protein-coupled receptor 114	447					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(5)|ovary(2)|stomach(1)|urinary_tract(1)	23						GGGCGGATGCACCAAGTGTCA	0.652																																						ENST00000340339.4																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(5)|ovary(2)|stomach(1)|urinary_tract(1)	23						c.(1339-1341)gcA>gcT		G protein-coupled receptor 114							76	59	65					16																	57608859		2198	4300	6498	SO:0001819	synonymous_variant	221188				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr16:57608859A>T	AY140956	CCDS10785.1	16q13	2014-08-08			ENSG00000159618	ENSG00000159618		"-", "GPCR / Class B : Orphans"	19010	protein-coding gene	gene with protein product						12435584	Standard	NM_153837		Approved	PGR27	uc002ely.3	Q8IZF4	OTTHUMG00000133461	ENST00000340339.4:c.1341A>T	16.37:g.57608859A>T						GPR114_ENST00000394361.4_3'UTR|GPR114_ENST00000349457.3_Silent_p.A447A	p.A447A	NM_153837.1	NP_722579.1	Q8IZF4	GP114_HUMAN			11	1864	+			447					B3KXZ5|Q6ZMH7|Q6ZML4|Q86SL8|Q8IZ14	Silent	SNP	ENST00000340339.4	37	c.1341A>T	CCDS10785.1	.	.	.	.	.	.	.	.	.	.	A	1.331	-0.596740	0.03771	.	.	ENSG00000159618	ENST00000394361	.	.	.	5.56	-2.27	0.06846	.	.	.	.	.	T	0.21186	0.0510	.	.	.	0.09310	N	0.999999	B	0.18610	0.029	B	0.14023	0.01	T	0.31251	-0.9950	7	0.11485	T	0.65	.	10.2449	0.43334	0.4142:0.0:0.5858:0.0	.	408	B4E148	.	L	408	.	ENSP00000377888:H408L	H	+	2	0	GPR114	56166360	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.005000	0.13129	-0.629000	0.05575	-0.608000	0.04076	CAC		0.652	GPR114-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257336.3	NM_153837		4	29	0	0	0	1	0	4	29					T	57608859	A	T	57608859	2	4	334	1	0	0	0	0	0	0	0	1	6631	146	6	5		5	GPR114	16	57608859	Silent	SNP	A	TCGA-KK-A8I6-01A-11D-A364-08	54304301	57608859	32745894	35	16989											
ELAC2	60528	broad.mit.edu	37	chr17	12898299	12898299	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cctcttccaaatcacatgttCgcaacagcgaactgatcaat	13	10	5	13	2	3	1	2	1	1	0	5	2	4	1	2	0	3	2	2	0	4	2			TCGA-KK-A8I6-01A-11D-A364-08	TCGA-KK-A8I6-11A-12D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b09465a0-6766-4401-8ab3-1f7b0ba892cd	05ab92d0-9cba-4cd0-9f18-31dd0ef37394	g.chr17:12898299C>T	ENST00000338034.4	-	20	2128	c.1889G>A	c.(1888-1890)cGa>cAa	p.R630Q	ELAC2_ENST00000395962.2_Missense_Mutation_p.R611Q|ELAC2_ENST00000426905.3_Missense_Mutation_p.R590Q	NM_018127.6|NM_173717.1	NP_060597.4|NP_776065.1	Q9BQ52	RNZ2_HUMAN	elaC ribonuclease Z 2	630					mitochondrial tRNA 3'-trailer cleavage, endonucleolytic (GO:0072684)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|skin(1)	23						ATCACATGTTCGCAACAGCGA	0.527																																						ENST00000338034.4																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|skin(1)	23						c.(1888-1890)cGa>cAa		elaC ribonuclease Z 2							179	186	183					17																	12898299		2203	4300	6503	SO:0001583	missense	60528				tRNA processing	nucleus	endonuclease activity|metal ion binding|protein binding	g.chr17:12898299C>T	AF304370	CCDS11164.1, CCDS54093.1	17p11.2	2013-05-24	2013-05-24		ENSG00000006744	ENSG00000006744	3.1.26.11		14198	protein-coding gene	gene with protein product	"tRNase Z (long form)"	605367	"elaC (E. coli) homolog 2", "elaC homolog 2 (E. coli)"			10986046, 16636667, 21559454	Standard	NM_018127		Approved	FLJ10530, HPC2	uc010vvr.2	Q9BQ52	OTTHUMG00000058764	ENST00000338034.4:c.1889G>A	17.37:g.12898299C>T	ENSP00000337445:p.Arg630Gln					ELAC2_ENST00000395962.2_Missense_Mutation_p.R611Q|ELAC2_ENST00000426905.3_Missense_Mutation_p.R590Q	p.R630Q	NM_018127.6|NM_173717.1	NP_060597.4|NP_776065.1	Q9BQ52	RNZ2_HUMAN			20	2128	-			630					B4DPL9|Q6IA94|Q9HAS8|Q9HAS9|Q9NVT1	Missense_Mutation	SNP	ENST00000338034.4	37	c.1889G>A	CCDS11164.1	.	.	.	.	.	.	.	.	.	.	C	9.750	1.167106	0.21621	.	.	ENSG00000006744	ENST00000426905;ENST00000338034;ENST00000395962	T;T;T	0.54479	0.57;0.57;0.57	5.31	-1.25	0.09405	Beta-lactamase-like (1);	0.837249	0.11177	N	0.591374	T	0.22205	0.0535	N	0.03029	-0.43	0.09310	N	1	B;B;B;B;B;B;B;B	0.20368	0.044;0.001;0.036;0.001;0.044;0.044;0.023;0.003	B;B;B;B;B;B;B;B	0.24394	0.032;0.001;0.019;0.001;0.032;0.053;0.013;0.012	T	0.22800	-1.0206	10	0.19147	T	0.46	1.6319	4.6861	0.12758	0.1584:0.4305:0.0:0.4111	.	590;613;611;428;630;390;615;258	B4DPL9;E9PGJ0;G5E9D5;E7ES68;Q9BQ52;B3KSU9;B4DT15;Q9BQ52-3	.;.;.;.;RNZ2_HUMAN;.;.;.	Q	590;630;611	ENSP00000405223:R590Q;ENSP00000337445:R630Q;ENSP00000379291:R611Q	ENSP00000337445:R630Q	R	-	2	0	ELAC2	12839024	0.000000	0.05858	0.001000	0.08648	0.000000	0.00434	-1.268000	0.02836	-0.416000	0.07473	-1.284000	0.01376	CGA		0.527	ELAC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129934.5			4	196	0	0	0	1	0	4	196					T	12898299	C	T	12898299	3	4	334	1	0	0	0	0	1	0	0	0	5047	884	31	2	611	2	ELAC2	17	12898299	Missense_Mutation	SNP	C	TCGA-KK-A8I6-01A-11D-A364-08		12898299	68296911	36	16990											
MUC16	94025	broad.mit.edu	37	chr19	9085673	9085673	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtcccatagccaggaagtgaTtgcattcctcctactgattg	9	12	9	11	0	0	2	0	2	0	0	3	3	3	3	4	1	3	1	4	1	3	5			TCGA-KK-A8I6-01A-11D-A364-08	TCGA-KK-A8I6-11A-12D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b09465a0-6766-4401-8ab3-1f7b0ba892cd	05ab92d0-9cba-4cd0-9f18-31dd0ef37394	g.chr19:9085673T>C	ENST00000397910.4	-	1	6345	c.6142A>G	c.(6142-6144)Atc>Gtc	p.I2048V		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	2048	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CAGGAAGTGATTGCATTCCTC	0.483																																						ENST00000397910.4																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(6142-6144)Atc>Gtc		mucin 16, cell surface associated							160	154	156					19																	9085673		2001	4170	6171	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9085673T>C	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.6142A>G	19.37:g.9085673T>C	ENSP00000381008:p.Ile2048Val						p.I2048V	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			1	6345	-			2048			Ser-rich.|Thr-rich.		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.6142A>G	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	t	0.559	-0.846024	0.02671	.	.	ENSG00000181143	ENST00000397910	T	0.02236	4.38	0.137	0.137	0.14787	.	.	.	.	.	T	0.01523	0.0049	N	0.08118	0	.	.	.	B	0.19706	0.038	B	0.26310	0.068	T	0.36529	-0.9744	7	0.87932	D	0	.	.	.	.	.	2048	B5ME49	.	V	2048	ENSP00000381008:I2048V	ENSP00000381008:I2048V	I	-	1	0	MUC16	8946673	0.016000	0.18221	0.019000	0.16419	0.063000	0.16089	-0.123000	0.10611	0.249000	0.21456	0.246000	0.17985	ATC		0.483	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		4	115	0	0	0	1	0	4	115					C	9085673	T	C	9085673	3	2	334	1	0	0	0	0	1	0	0	0	9973	1493	52	4	37717	4	MUC16	19	9085673	Missense_Mutation	SNP	T	TCGA-KK-A8I6-01A-11D-A364-08		9085673	50043310	37	16991											
OR10H3	26532	broad.mit.edu	37	chr19	15852463	15852463	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cgcatgctggctgatctgctCttcacccatcgttccatcac	6	12	7	16	2	4	1	2	1	2	0	6	1	5	1	2	1	2	5	2	1	0	2			TCGA-KK-A8I6-01A-11D-A364-08	TCGA-KK-A8I6-11A-12D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b09465a0-6766-4401-8ab3-1f7b0ba892cd	05ab92d0-9cba-4cd0-9f18-31dd0ef37394	g.chr19:15852463C>T	ENST00000305892.1	+	1	261	c.261C>T	c.(259-261)ctC>ctT	p.L87L		NM_013938.1	NP_039226.1	O60404	O10H3_HUMAN	olfactory receptor, family 10, subfamily H, member 3	87						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(2)|endometrium(1)|kidney(2)|large_intestine(1)|liver(1)|lung(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17						CTGATCTGCTCTTCACCCATC	0.512																																						ENST00000305892.1																			0				cervix(2)|endometrium(1)|kidney(2)|large_intestine(1)|liver(1)|lung(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17						c.(259-261)ctC>ctT		olfactory receptor, family 10, subfamily H, member 3							566	472	504					19																	15852463		2203	4300	6503	SO:0001819	synonymous_variant	26532				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr19:15852463C>T		CCDS12334.1	19p13.1	2012-08-09				ENSG00000171936		"GPCR / Class A : Olfactory receptors"	8174	protein-coding gene	gene with protein product							Standard	NM_013938		Approved		uc010xoq.2	O60404		ENST00000305892.1:c.261C>T	19.37:g.15852463C>T							p.L87L	NM_013938.1	NP_039226.1	O60404	O10H3_HUMAN			1	261	+			87					Q2HIZ3|Q6IFQ0	Silent	SNP	ENST00000305892.1	37	c.261C>T	CCDS12334.1																																																																																				0.512	OR10H3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460918.1			11	294	0	0	0	1	0	11	294					T	15852463	C	T	15852463	2	4	334	1	0	0	0	0	0	0	0	1	10907	900	32	3		3	OR10H3	19	15852463	Silent	SNP	C	TCGA-KK-A8I6-01A-11D-A364-08	6766790	15852463	43276520	38	16992											
NDUFA13	51079	broad.mit.edu	37	chr19	19627082	19627082	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtgaagcaggacatgcctcCgccggggggctatgggccca	7	5	17	12	2	0	1	0	1	0	0	1	2	1	2	4	6	2	2	4	6	2	1			TCGA-KK-A8I6-01A-11D-A364-08	TCGA-KK-A8I6-11A-12D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b09465a0-6766-4401-8ab3-1f7b0ba892cd	05ab92d0-9cba-4cd0-9f18-31dd0ef37394	g.chr19:19627082C>T	ENST00000507754.4	+	1	519	c.35C>T	c.(34-36)cCg>cTg	p.P12L	CTC-260F20.3_ENST00000555938.1_Missense_Mutation_p.P12L|NDUFA13_ENST00000512771.3_Missense_Mutation_p.P12L|CTC-260F20.3_ENST00000586674.1_3'UTR|YJEFN3_ENST00000608404.1_Missense_Mutation_p.P12L|NDUFA13_ENST00000252576.5_Missense_Mutation_p.P95L|NDUFA13_ENST00000503283.1_Missense_Mutation_p.P12L|TSSK6_ENST00000360913.3_5'Flank|NDUFA13_ENST00000428459.2_Missense_Mutation_p.P12L|TSSK6_ENST00000585580.3_5'Flank			Q9P0J0	NDUAD_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 13	12					apoptotic signaling pathway (GO:0097190)|cellular metabolic process (GO:0044237)|cellular response to interferon-beta (GO:0035458)|cellular response to retinoic acid (GO:0071300)|negative regulation of cell growth (GO:0030308)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of peptidase activity (GO:0010952)|positive regulation of protein catabolic process (GO:0045732)|protein import into mitochondrial inner membrane (GO:0045039)|reactive oxygen species metabolic process (GO:0072593)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial membrane (GO:0031966)|mitochondrial respiratory chain (GO:0005746)|mitochondrial respiratory chain complex I (GO:0005747)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|NADH dehydrogenase (ubiquinone) activity (GO:0008137)|NADH dehydrogenase activity (GO:0003954)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(4)|ovary(1)	12						GACATGCCTCCGCCGGGGGGC	0.617																																						ENST00000555938.1																			0											c.(34-36)cCg>cTg									39	44	43					19																	19627082		2203	4300	6503	SO:0001583	missense	0							g.chr19:19627082C>T	AF261134	CCDS12404.1, CCDS12404.2	19p13.11	2011-07-04			ENSG00000186010	ENSG00000186010		"Mitochondrial respiratory chain complex / Complex I"	17194	protein-coding gene	gene with protein product	"complex I B16.6 subunit"	609435				12837546, 10924506, 15367666	Standard	NM_015965		Approved	CGI-39, CDA016, GRIM-19, GRIM19, B16.6		Q9P0J0	OTTHUMG00000162211	ENST00000507754.4:c.35C>T	19.37:g.19627082C>T	ENSP00000423673:p.Pro12Leu					CTC-260F20.3_ENST00000586674.1_3'UTR|NDUFA13_ENST00000507754.3_Missense_Mutation_p.P12L|NDUFA13_ENST00000252576.5_Missense_Mutation_p.P95L|NDUFA13_ENST00000503283.1_Missense_Mutation_p.P12L|NDUFA13_ENST00000428459.2_Missense_Mutation_p.P12L	p.P12L							1	47	+								B4DF76|K7EK58|Q6PKI0|Q9H2L3|Q9Y327	Missense_Mutation	SNP	ENST00000507754.4	37	c.35C>T	CCDS12404.2	.	.	.	.	.	.	.	.	.	.	C	35	5.558020	0.96514	.	.	ENSG00000186010;ENSG00000186010;ENSG00000250067;ENSG00000258674	ENST00000507754;ENST00000252576;ENST00000553705;ENST00000555938	D;D;D	0.89810	-2.57;-2.57;-2.57	5.3	5.3	0.74995	.	0.000000	0.85682	D	0.000000	D	0.96225	0.8769	H	0.95043	3.615	0.47441	D	0.999429	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;1.0	D	0.97349	0.9962	10	0.87932	D	0	.	16.5154	0.84299	0.0:1.0:0.0:0.0	.	12;12;12	E7ENQ6;B4DF76;Q9P0J0	.;.;NDUAD_HUMAN	L	12;95;12;12	ENSP00000423673:P12L;ENSP00000252576:P95L;ENSP00000452549:P12L	ENSP00000252576:P95L	P	+	2	0	YJEFN3;NDUFA13;CTC-260F20.3	19488082	1.000000	0.71417	0.985000	0.45067	0.952000	0.60782	6.163000	0.71880	2.504000	0.84457	0.650000	0.86243	CCG		0.617	NDUFA13-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367916.6	NM_015965		16	36	0	0	0	1	0	16	36					T	19627082	C	T	19627082	3	4	334	1	0	0	0	0	1	0	0	0	10263	652	23	2	37	2	NDUFA13	19	19627082	Missense_Mutation	SNP	C	TCGA-KK-A8I6-01A-11D-A364-08	3774619	19627082	39501901	39	16993											
DYRK1B	9149	broad.mit.edu	37	chr19	40316880	40316880	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gggcccccacaatatcggttGctgtagcggtaggtccggtt	6	10	14	11	3	0	0	0	0	0	0	2	0	1	0	3	5	2	5	3	5	4	5			TCGA-KK-A8I6-01A-11D-A364-08	TCGA-KK-A8I6-11A-12D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b09465a0-6766-4401-8ab3-1f7b0ba892cd	05ab92d0-9cba-4cd0-9f18-31dd0ef37394	g.chr19:40316880G>C	ENST00000593685.1	-	10	1926	c.1458C>G	c.(1456-1458)agC>agG	p.S486R	DYRK1B_ENST00000430012.2_Missense_Mutation_p.S446R|DYRK1B_ENST00000323039.5_Missense_Mutation_p.S486R|DYRK1B_ENST00000597639.1_Missense_Mutation_p.S458R|DYRK1B_ENST00000348817.3_Missense_Mutation_p.S458R			Q9Y463	DYR1B_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1B	486	Interaction with RANBP9.				adipose tissue development (GO:0060612)|myoblast fusion (GO:0007520)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)|transcription coactivator activity (GO:0003713)			central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(7)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	24	all_cancers(60;5.79e-06)|all_lung(34;5.2e-08)|Lung NSC(34;6.14e-08)|Ovarian(47;0.06)		Epithelial(26;5.74e-25)|OV - Ovarian serous cystadenocarcinoma(5;3.13e-24)|all cancers(26;8.59e-23)			AATATCGGTTGCTGTAGCGGT	0.612																																						ENST00000593685.1																			0				central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(7)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	24						c.(1456-1458)agC>agG		dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1B							44	47	46					19																	40316880		2203	4300	6503	SO:0001583	missense	9149				positive regulation of transcription, DNA-dependent	nucleus	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|transcription coactivator activity	g.chr19:40316880G>C	Y17999	CCDS12543.1, CCDS12544.1, CCDS46075.1	19q13.2	2012-10-02			ENSG00000105204	ENSG00000105204	2.7.12.1		3092	protein-coding gene	gene with protein product	"minibrain-related kinase"	604556				9918863	Standard	XM_005259395		Approved	MIRK	uc002omj.3	Q9Y463		ENST00000593685.1:c.1458C>G	19.37:g.40316880G>C	ENSP00000469863:p.Ser486Arg					DYRK1B_ENST00000323039.5_Missense_Mutation_p.S486R|DYRK1B_ENST00000597639.1_Missense_Mutation_p.S458R|DYRK1B_ENST00000430012.2_Missense_Mutation_p.S446R|DYRK1B_ENST00000348817.3_Missense_Mutation_p.S458R	p.S486R			Q9Y463	DYR1B_HUMAN	Epithelial(26;5.74e-25)|OV - Ovarian serous cystadenocarcinoma(5;3.13e-24)|all cancers(26;8.59e-23)		10	1926	-	all_cancers(60;5.79e-06)|all_lung(34;5.2e-08)|Lung NSC(34;6.14e-08)|Ovarian(47;0.06)		486			Interaction with RANBP9.		O75258|O75788|O75789	Missense_Mutation	SNP	ENST00000593685.1	37	c.1458C>G	CCDS12543.1	.	.	.	.	.	.	.	.	.	.	G	16.02	3.004055	0.54254	.	.	ENSG00000105204	ENST00000323039;ENST00000348817;ENST00000430012	T;T;T	0.59083	0.29;0.33;0.33	4.32	3.28	0.37604	.	0.000000	0.85682	D	0.000000	T	0.59649	0.2209	N	0.24115	0.695	0.47511	D	0.99944	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.997;0.999	T	0.57596	-0.7784	10	0.42905	T	0.14	.	9.9807	0.41811	0.1019:0.0:0.8981:0.0	.	446;486;458	Q9Y463-2;Q9Y463;Q9Y463-3	.;DYR1B_HUMAN;.	R	486;458;446	ENSP00000312789:S486R;ENSP00000221803:S458R;ENSP00000403182:S446R	ENSP00000312789:S486R	S	-	3	2	DYRK1B	45008720	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.993000	0.40747	0.786000	0.33708	0.563000	0.77884	AGC		0.612	DYRK1B-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462874.2	NM_004714		25	42	0	0	0	1	0	25	42					C	40316880	G	C	40316880	3	2	334	1	0	0	0	0	1	0	0	0	4855	1310	46	5	439	5	DYRK1B	19	40316880	Missense_Mutation	SNP	G	TCGA-KK-A8I6-01A-11D-A364-08	20689798	40316880	18812103	40	16994											
ACPT	93650	broad.mit.edu	37	chr19	51293714	51293716	+	In_Frame_Del	DEL	CTG	CTG	-																															gccaccctgctggacctctcCtgctgctgctgctgctggtg																										TCGA-KK-A8I6-01A-11D-A364-08	TCGA-KK-A8I6-11A-12D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b09465a0-6766-4401-8ab3-1f7b0ba892cd	05ab92d0-9cba-4cd0-9f18-31dd0ef37394	g.chr19:51293714_51293716delCTG	ENST00000270593.1	+	1	43_45	c.43_45delCTG	c.(43-45)ctgdel	p.L20del	CTD-2568A17.8_ENST00000594114.1_RNA|ACPT_ENST00000270594.3_In_Frame_Del_p.L20del	NM_033068.2	NP_149059.1	Q9BZG2	PPAT_HUMAN	acid phosphatase, testicular	20						integral component of membrane (GO:0016021)	acid phosphatase activity (GO:0003993)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|skin(3)	11		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028)		TGGACCTCTCctgctgctgctgc	0.709																																						ENST00000270593.1																			0				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|skin(3)	11						c.(43-45)del		acid phosphatase, testicular				168,3966		7,154,1906						-0.3	0			15	194,7852		8,178,3837	no	coding	ACPT	NM_033068.2		15,332,5743	A1A1,A1R,RR		2.4111,4.0639,2.9721				362,11818				SO:0001651	inframe_deletion	93650					integral to membrane	acid phosphatase activity	g.chr19:51293714_51293716delCTG	AF321918	CCDS12802.1	19q13.33	2012-10-02			ENSG00000142513	ENSG00000142513			14376	protein-coding gene	gene with protein product		606362				11414767	Standard	NM_033068		Approved		uc002pta.1	Q9BZG2		ENST00000270593.1:c.43_45delCTG	19.37:g.51293723_51293725delCTG	ENSP00000270593:p.Leu20del					ACPT_ENST00000270594.3_In_Frame_Del_p.L20del	p.L20del	NM_033068.2	NP_149059.1	Q9BZG2	PPAT_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028)	1	43_45	+		all_neural(266;0.057)	20					C0H3P7|Q9BZG3|Q9BZG4	In_Frame_Del	DEL	ENST00000270593.1	37	c.43_45delCTG	CCDS12802.1																																																																																				0.709	ACPT-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464434.1	NM_033068		2	4						2	4	---	---	---	---	-	51293716	CTG	-	51293714	7	5	334	1	0	1	0	1	0	0	0	0	168	680	24	0	45	0	ACPT	19	51293714	In_Frame_Del	DEL	CTG	TCGA-KK-A8I6-01A-11D-A364-08	10976834	51293714	7835269	41	16995											
TMC4	147798	broad.mit.edu	37	chr19	54667527	54667527	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaatgagcttgaacacgggCggcagcacaaaattgacccc	13	5	11	12	2	0	3	0	3	0	0	0	3	0	3	2	2	3	4	2	2	4	2	rs149954505		TCGA-KK-A8I6-01A-11D-A364-08	TCGA-KK-A8I6-11A-12D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b09465a0-6766-4401-8ab3-1f7b0ba892cd	05ab92d0-9cba-4cd0-9f18-31dd0ef37394	g.chr19:54667527C>T	ENST00000376591.4	-	8	1355	c.1224G>A	c.(1222-1224)ccG>ccA	p.P408P	TMC4_ENST00000416963.1_5'Flank|TMC4_ENST00000301187.4_Silent_p.P402P|TMC4_ENST00000476013.2_5'Flank	NM_001145303.1|NM_144686.2	NP_001138775|NP_653287.2	Q7Z404	TMC4_HUMAN	transmembrane channel-like 4	408					ion transport (GO:0006811)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(2)|endometrium(7)|large_intestine(4)|lung(6)|pancreas(1)|skin(1)|urinary_tract(1)	22	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					TGAACACGGGCGGCAGCACAA	0.567											OREG0003641	type=REGULATORY REGION|Gene=AK124406|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																										ENST00000376591.4																			0				breast(2)|endometrium(7)|large_intestine(4)|lung(6)|pancreas(1)|skin(1)|urinary_tract(1)	22						c.(1222-1224)ccG>ccA		transmembrane channel-like 4		C	,	0,4406		0,0,2203	103	96	98		1224,1206	-10.3	0	19	dbSNP_134	98	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	TMC4	NM_001145303.1,NM_144686.2	,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,	408/713,402/707	54667527	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	147798					integral to membrane		g.chr19:54667527C>T	AY236492	CCDS12882.1, CCDS46174.1	19q13.42	2008-02-05			ENSG00000167608	ENSG00000167608			22998	protein-coding gene	gene with protein product						12812529, 12906855	Standard	XM_005277069		Approved		uc010erf.3	Q7Z404	OTTHUMG00000066485	ENST00000376591.4:c.1224G>A	19.37:g.54667527C>T			OREG0003641	type=REGULATORY REGION|Gene=AK124406|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	1002	TMC4_ENST00000301187.4_Silent_p.P402P	p.P408P	NM_001145303.1|NM_144686.2	NP_001138775.1|NP_653287.1	Q7Z404	TMC4_HUMAN			8	1355	-	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)		408					Q7Z5M3|Q8N5E4|Q8TBS7	Silent	SNP	ENST00000376591.4	37	c.1224G>A	CCDS46174.1																																																																																				0.567	TMC4-011	NOVEL	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000156164.2			19	29	0	0	0	1	0	19	29					T	54667527	C	T	54667527	2	4	334	1	0	0	0	0	0	0	0	1	15984	755	27	1		1	TMC4	19	54667527	Silent	SNP	C	TCGA-KK-A8I6-01A-11D-A364-08	3373813	54667527	4461456	42	16996											
FLNA	2316	broad.mit.edu	37	chrX	153588855	153588855	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcacaggggccctccaccGtcaggcccaggccacctgtg	6	5	11	19	1	2	0	2	0	0	0	3	0	3	0	7	4	0	0	7	4	0	0			TCGA-KK-A8I6-01A-11D-A364-08	TCGA-KK-A8I6-11A-12D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b09465a0-6766-4401-8ab3-1f7b0ba892cd	05ab92d0-9cba-4cd0-9f18-31dd0ef37394	g.chrX:153588855G>A	ENST00000369850.3	-	22	3544	c.3308C>T	c.(3307-3309)aCg>aTg	p.T1103M	FLNA_ENST00000422373.1_Missense_Mutation_p.T1103M|FLNA_ENST00000360319.4_Missense_Mutation_p.T1103M|FLNA_ENST00000369856.3_5'Flank|FLNA_ENST00000344736.4_Missense_Mutation_p.T1103M	NM_001110556.1	NP_001104026.1	P21333	FLNA_HUMAN	filamin A, alpha	1103					actin crosslink formation (GO:0051764)|actin cytoskeleton reorganization (GO:0031532)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|blood coagulation (GO:0007596)|cell junction assembly (GO:0034329)|cilium assembly (GO:0042384)|cytoplasmic sequestering of protein (GO:0051220)|early endosome to late endosome transport (GO:0045022)|epithelial to mesenchymal transition (GO:0001837)|establishment of protein localization (GO:0045184)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of transcription factor import into nucleus (GO:0042993)|protein localization to cell surface (GO:0034394)|protein stabilization (GO:0050821)|receptor clustering (GO:0043113)|spindle assembly involved in mitosis (GO:0090307)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|apical dendrite (GO:0097440)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|Myb complex (GO:0031523)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	actin filament binding (GO:0051015)|Fc-gamma receptor I complex binding (GO:0034988)|glycoprotein binding (GO:0001948)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|Rac GTPase binding (GO:0048365)|Ral GTPase binding (GO:0017160)|Rho GTPase binding (GO:0017048)|signal transducer activity (GO:0004871)|small GTPase binding (GO:0031267)|transcription factor binding (GO:0008134)			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GCCCTCCACCGTCAGGCCCAG	0.687											OREG0003593	type=REGULATORY REGION|Gene=FLNA|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																										ENST00000422373.1																			0				breast(6)	6						c.(3307-3309)aCg>aTg		filamin A, alpha							43	47	46					X																	153588855		2003	4143	6146	SO:0001583	missense	0				actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding	g.chrX:153588855G>A	X70082	CCDS44021.1, CCDS48194.1	Xq28	2009-07-23	2009-07-23		ENSG00000196924	ENSG00000196924			3754	protein-coding gene	gene with protein product	"actin binding protein 280"	300017	"filamin A, alpha (actin binding protein 280)"	FLN1, FLN, OPD2, OPD1		8406501, 12612583	Standard	NM_001456		Approved	ABP-280	uc004fkk.2	P21333	OTTHUMG00000022712	ENST00000369850.3:c.3308C>T	X.37:g.153588855G>A	ENSP00000358866:p.Thr1103Met		OREG0003593	type=REGULATORY REGION|Gene=FLNA|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	1756	FLNA_ENST00000360319.4_Missense_Mutation_p.T1103M|FLNA_ENST00000344736.4_Missense_Mutation_p.T1103M|FLNA_ENST00000369850.3_Missense_Mutation_p.T1103M	p.T1103M	NM_001456.3	NP_001447.2	P21333	FLNA_HUMAN			22	3556	-	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)		1103					E9KL45|Q5HY53|Q5HY55|Q8NF52	Missense_Mutation	SNP	ENST00000369850.3	37	c.3308C>T	CCDS48194.1	.	.	.	.	.	.	.	.	.	.	G	17.93	3.508222	0.64410	.	.	ENSG00000196924	ENST00000360319;ENST00000369852;ENST00000422373;ENST00000369850;ENST00000344736	D;D;D;D	0.85171	-1.95;-1.95;-1.95;-1.95	5.33	4.44	0.53790	Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.092737	0.44483	D	0.000458	D	0.93229	0.7843	M	0.88906	2.99	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.94109	0.7369	10	0.87932	D	0	.	15.0188	0.71613	0.0:0.1392:0.8608:0.0	.	1103;1103	P21333-2;P21333	.;FLNA_HUMAN	M	1103;1076;1103;1103;1103	ENSP00000353467:T1103M;ENSP00000416926:T1103M;ENSP00000358866:T1103M;ENSP00000358863:T1103M	ENSP00000358863:T1103M	T	-	2	0	FLNA	153242049	1.000000	0.71417	0.865000	0.33974	0.734000	0.41952	7.932000	0.87634	0.986000	0.38683	0.525000	0.51046	ACG		0.687	FLNA-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058942.3			29	7	0	0	0	1	0	29	7					A	153588855	G	A	153588855	3	1	334	1	0	0	0	0	1	0	0	0	5933	1145	40	1	4743	1	FLNA	23	153588855	Missense_Mutation	SNP	G	TCGA-KK-A8I6-01A-11D-A364-08		153588855	1681705	43	16997											
RPF1	80135	broad.mit.edu	37	chr1	84948626	84948626	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aaagcctgtacccaagaccaTtgacaaccagcgagtgtatg	14	7	9	11	1	0	2	0	1	0	1	0	3	0	2	4	0	4	2	4	0	5	3			TCGA-KK-A8I7-01A-21D-A364-08	TCGA-KK-A8I7-11A-12D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad18700a-4894-4c51-9d92-68514c853b0c	7e2e1f2f-9929-485e-8b8f-cb092a7e3b1c	g.chr1:84948626T>C	ENST00000370654.5	+	3	329	c.314T>C	c.(313-315)aTt>aCt	p.I105T	RPF1_ENST00000370656.1_Missense_Mutation_p.I105T	NM_025065.6	NP_079341.2	Q9H9Y2	RPF1_HUMAN	ribosome production factor 1 homolog (S. cerevisiae)	105					rRNA processing (GO:0006364)	nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|rRNA binding (GO:0019843)			breast(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(2)|prostate(1)	14						CCCAAGACCATTGACAACCAG	0.338																																						ENST00000370654.5																			0				breast(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(2)|prostate(1)	14						c.(313-315)aTt>aCt		ribosome production factor 1 homolog (S. cerevisiae)							110	102	105					1																	84948626		2203	4300	6503	SO:0001583	missense	80135				rRNA processing|translation	nucleolus	aminoacyl-tRNA ligase activity|ATP binding|rRNA binding	g.chr1:84948626T>C	AF322053	CCDS695.1	1p22.3	2009-09-25	2009-09-25	2009-09-25	ENSG00000117133	ENSG00000117133			30350	protein-coding gene	gene with protein product	"RNA processing factor 1", "ribosome production factor 1"		"brix domain containing 5"	BXDC5		11864606	Standard	NM_025065		Approved		uc001djv.4	Q9H9Y2	OTTHUMG00000009857	ENST00000370654.5:c.314T>C	1.37:g.84948626T>C	ENSP00000359688:p.Ile105Thr					RPF1_ENST00000370656.1_Missense_Mutation_p.I105T	p.I105T	NM_025065.6	NP_079341.2	Q9H9Y2	RPF1_HUMAN			3	329	+			105					Q5VSK7|Q6AHX1|Q8WXZ8	Missense_Mutation	SNP	ENST00000370654.5	37	c.314T>C	CCDS695.1	.	.	.	.	.	.	.	.	.	.	T	20.4	3.982954	0.74474	.	.	ENSG00000117133	ENST00000370656;ENST00000370654	T;T	0.64991	-0.13;1.27	5.93	5.93	0.95920	.	0.047740	0.85682	D	0.000000	T	0.82235	0.4993	H	0.94222	3.51	0.80722	D	1	D	0.76494	0.999	D	0.70935	0.971	D	0.87546	0.2462	10	0.87932	D	0	-15.7871	16.3766	0.83401	0.0:0.0:0.0:1.0	.	105	Q9H9Y2	RPF1_HUMAN	T	105	ENSP00000359690:I105T;ENSP00000359688:I105T	ENSP00000359688:I105T	I	+	2	0	RPF1	84721214	1.000000	0.71417	1.000000	0.80357	0.589000	0.36550	7.236000	0.78154	2.263000	0.75096	0.533000	0.62120	ATT		0.338	RPF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027238.1	NM_025065		3	38	0	0	0	1	0	3	38					C	84948626	T	C	84948626	3	2	335	1	0	0	0	0	1	0	0	0	13546	1493	52	4	324	4	RPF1	1	84948626	Missense_Mutation	SNP	T	TCGA-KK-A8I7-01A-21D-A364-08		84948626	164301995	1	16998											
OLFML2B	25903	broad.mit.edu	37	chr1	161967655	161967655	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcttcttcttcggggctcagCgtggggctggcaggggttgt	2	13	17	9	2	4	0	1	0	3	0	5	0	4	0	0	7	1	4	0	7	0	4			TCGA-KK-A8I7-01A-21D-A364-08	TCGA-KK-A8I7-11A-12D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad18700a-4894-4c51-9d92-68514c853b0c	7e2e1f2f-9929-485e-8b8f-cb092a7e3b1c	g.chr1:161967655C>T	ENST00000294794.3	-	6	1857	c.1434G>A	c.(1432-1434)acG>acA	p.T478T	OLFML2B_ENST00000367940.2_Silent_p.T479T	NM_015441.1	NP_056256.1	Q68BL8	OLM2B_HUMAN	olfactomedin-like 2B	478					extracellular matrix organization (GO:0030198)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48	all_hematologic(112;0.156)		BRCA - Breast invasive adenocarcinoma(70;0.0172)			CGGGGCTCAGCGTGGGGCTGG	0.562																																						ENST00000294794.3																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						c.(1432-1434)acG>acA		olfactomedin-like 2B							143	143	143					1																	161967655		2203	4300	6503	SO:0001819	synonymous_variant	25903							g.chr1:161967655C>T	BX648975	CCDS1236.1, CCDS72966.1	1q23.1	2008-02-05			ENSG00000162745	ENSG00000162745			24558	protein-coding gene	gene with protein product							Standard	XM_005245075		Approved	DKFZP586L151	uc001gbu.3	Q68BL8	OTTHUMG00000024047	ENST00000294794.3:c.1434G>A	1.37:g.161967655C>T						OLFML2B_ENST00000367940.2_Silent_p.T479T	p.T478T	NM_015441.1	NP_056256.1	Q68BL8	OLM2B_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.0172)		6	1857	-	all_hematologic(112;0.156)		478					B7ZA39|Q5VU96|Q6NX46|Q86X11|Q9Y3X6	Silent	SNP	ENST00000294794.3	37	c.1434G>A	CCDS1236.1																																																																																				0.562	OLFML2B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000060552.2	NM_015441		13	195	0	0	0	1	0	13	195					T	161967655	C	T	161967655	2	4	335	1	0	0	0	0	0	0	0	1	10858	755	27	1		1	OLFML2B	1	161967655	Silent	SNP	C	TCGA-KK-A8I7-01A-21D-A364-08	77019029	161967655	87282966	2	16999											
ARPP21	10777	broad.mit.edu	37	chr3	35770839	35770839	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gctcctcaggatcgctgtccCgcacccatccacctctccag	6	8	7	20	2	2	0	1	0	1	0	7	1	5	1	6	1	0	3	6	1	0	0			TCGA-KK-A8I7-01A-21D-A364-08	TCGA-KK-A8I7-11A-12D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad18700a-4894-4c51-9d92-68514c853b0c	7e2e1f2f-9929-485e-8b8f-cb092a7e3b1c	g.chr3:35770839C>T	ENST00000187397.4	+	15	1726	c.1270C>T	c.(1270-1272)Cgc>Tgc	p.R424C	ARPP21_ENST00000337271.5_Missense_Mutation_p.R370C|ARPP21_ENST00000444190.1_Missense_Mutation_p.R370C|ARPP21_ENST00000458225.1_Missense_Mutation_p.R390C|ARPP21_ENST00000417925.1_Missense_Mutation_p.R390C	NM_016300.4	NP_057384.2	Q9UBL0	ARP21_HUMAN	cAMP-regulated phosphoprotein, 21kDa	424					cellular response to heat (GO:0034605)	cytoplasm (GO:0005737)	nucleic acid binding (GO:0003676)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	61						ATCGCTGTCCCGCACCCATCC	0.552																																						ENST00000187397.4																			0				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	61						c.(1270-1272)Cgc>Tgc		cAMP-regulated phosphoprotein, 21kDa							63	65	65					3																	35770839		2203	4300	6503	SO:0001583	missense	10777					cytoplasm	nucleic acid binding	g.chr3:35770839C>T	AA733082	CCDS2661.1, CCDS43063.1, CCDS58823.1, CCDS58824.1	3p24.3	2010-08-12			ENSG00000172995	ENSG00000172995			16968	protein-coding gene	gene with protein product	"R3H domain containing 3"	605488				8120638	Standard	NM_198399		Approved	ARPP-21, TARPP, R3HDM3	uc011axy.2	Q9UBL0	OTTHUMG00000130795	ENST00000187397.4:c.1270C>T	3.37:g.35770839C>T	ENSP00000187397:p.Arg424Cys					ARPP21_ENST00000458225.1_Missense_Mutation_p.R390C|ARPP21_ENST00000444190.1_Missense_Mutation_p.R370C|ARPP21_ENST00000337271.5_Missense_Mutation_p.R370C|ARPP21_ENST00000417925.1_Missense_Mutation_p.R390C	p.R424C	NM_016300.4	NP_057384.2	Q9UBL0	ARP21_HUMAN			15	1726	+			424					B4DG96|Q49AK3|Q49AS6|Q4G0V4|Q6NYC3|Q86V31|Q9UF93	Missense_Mutation	SNP	ENST00000187397.4	37	c.1270C>T	CCDS2661.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	31|31	5.105000|5.105000	0.94245|0.94245	.|.	.|.	ENSG00000172995|ENSG00000172995	ENST00000425289|ENST00000458225;ENST00000337271;ENST00000444190;ENST00000187397;ENST00000417925	.|T;T;T;T;T	.|0.44083	.|0.93;0.93;0.93;0.93;0.93	6.06|6.06	6.06|6.06	0.98353|0.98353	.|.	.|0.739270	.|0.13443	.|N	.|0.387461	T|T	0.67439|0.67439	0.2893|0.2893	M|M	0.71036|0.71036	2.16|2.16	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|1.0;1.0;1.0	.|D;D;D	.|0.81914	.|0.995;0.989;0.993	T|T	0.60342|0.60342	-0.7282|-0.7282	5|10	.|0.39692	.|T	.|0.17	-13.081|-13.081	20.6397|20.6397	0.99537|0.99537	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|390;424;370	.|Q9UBL0-3;Q9UBL0;Q9UBL0-4	.|.;ARP21_HUMAN;.	L|C	196|390;370;370;424;390	.|ENSP00000414351:R390C;ENSP00000337792:R370C;ENSP00000405276:R370C;ENSP00000187397:R424C;ENSP00000412326:R390C	.|ENSP00000187397:R424C	P|R	+|+	2|1	0|0	ARPP21|ARPP21	35745843|35745843	1.000000|1.000000	0.71417|0.71417	0.996000|0.996000	0.52242|0.52242	0.989000|0.989000	0.77384|0.77384	4.678000|4.678000	0.61641|0.61641	2.880000|2.880000	0.98712|0.98712	0.650000|0.650000	0.86243|0.86243	CCG|CGC		0.552	ARPP21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253334.2	NM_198399		3	44	0	0	0	1	0	3	44					T	35770839	C	T	35770839	3	4	335	1	0	0	0	0	1	0	0	0	978	652	23	2	1333	2	ARPP21	3	35770839	Missense_Mutation	SNP	C	TCGA-KK-A8I7-01A-21D-A364-08		35770839	162251591	3	17000											
STAG1	10274	broad.mit.edu	37	chr3	136062803	136062803	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gcagggggccaggagtctgaAtcatggtgtcagtcctgttt	7	11	15	8	0	3	1	2	1	1	0	4	2	4	2	2	4	0	2	2	4	1	1			TCGA-KK-A8I7-01A-21D-A364-08	TCGA-KK-A8I7-11A-12D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad18700a-4894-4c51-9d92-68514c853b0c	7e2e1f2f-9929-485e-8b8f-cb092a7e3b1c	g.chr3:136062803A>C	ENST00000383202.2	-	30	3573	c.3317T>G	c.(3316-3318)aTt>aGt	p.I1106S	STAG1_ENST00000536929.1_Missense_Mutation_p.I690S|STAG1_ENST00000434713.2_Missense_Mutation_p.I846S|STAG1_ENST00000236698.5_Missense_Mutation_p.I1106S	NM_005862.2	NP_005853.2	Q8WVM7	STAG1_HUMAN	stromal antigen 1	1106					chromosome segregation (GO:0007059)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	cell junction (GO:0030054)|chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						AGGAGTCTGAATCATGGTGTC	0.507																																						ENST00000383202.2																			0				NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						c.(3316-3318)aTt>aGt		stromal antigen 1							143	117	126					3																	136062803		2203	4300	6503	SO:0001583	missense	10274				cell division|chromosome segregation|mitotic metaphase/anaphase transition|mitotic prometaphase	cell junction|chromatin|chromosome, centromeric region|nucleoplasm	protein binding	g.chr3:136062803A>C	Z75330	CCDS3090.1	3q22.2-q22.3	2011-08-12			ENSG00000118007	ENSG00000118007			11354	protein-coding gene	gene with protein product		604358				9305759	Standard	XM_006713471		Approved	SA-1, SCC3A	uc003era.1	Q8WVM7	OTTHUMG00000159798	ENST00000383202.2:c.3317T>G	3.37:g.136062803A>C	ENSP00000372689:p.Ile1106Ser					STAG1_ENST00000536929.1_Missense_Mutation_p.I690S|STAG1_ENST00000236698.5_Missense_Mutation_p.I1106S|STAG1_ENST00000434713.2_Missense_Mutation_p.I846S	p.I1106S	NM_005862.2	NP_005853.2	Q8WVM7	STAG1_HUMAN			30	3573	-			1106					O00539|Q6P275	Missense_Mutation	SNP	ENST00000383202.2	37	c.3317T>G	CCDS3090.1	.	.	.	.	.	.	.	.	.	.	A	17.19	3.327459	0.60743	.	.	ENSG00000118007	ENST00000383202;ENST00000236698;ENST00000434713;ENST00000536929	T;T;T;T	0.31769	1.89;1.88;1.86;1.48	5.48	5.48	0.80851	.	0.103074	0.41938	D	0.000789	T	0.24547	0.0595	L	0.40543	1.245	0.49582	D	0.999805	B;B	0.23650	0.089;0.003	B;B	0.15870	0.014;0.003	T	0.05954	-1.0854	10	0.14656	T	0.56	.	14.1559	0.65417	1.0:0.0:0.0:0.0	.	1106;1106	Q6P275;Q8WVM7	.;STAG1_HUMAN	S	1106;1106;846;690	ENSP00000372689:I1106S;ENSP00000236698:I1106S;ENSP00000404396:I846S;ENSP00000445787:I690S	ENSP00000236698:I1106S	I	-	2	0	STAG1	137545493	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	8.923000	0.92808	2.078000	0.62432	0.533000	0.62120	ATT		0.507	STAG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357366.1	NM_005862		9	71	0	0	0	1	0	9	71					C	136062803	A	C	136062803	3	2	335	1	0	0	0	0	1	0	0	0	15241	101	4	5	479	5	STAG1	3	136062803	Missense_Mutation	SNP	A	TCGA-KK-A8I7-01A-21D-A364-08	100291964	136062803	61959627	4	17001											
LAMA4	3910	broad.mit.edu	37	chr6	112430676	112430676	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gagttgatgcttacggcgccGctgaccagggctgctttact	6	11	13	11	3	0	2	0	2	0	0	0	3	0	2	2	2	4	5	2	2	2	4			TCGA-KK-A8I7-01A-21D-A364-08	TCGA-KK-A8I7-11A-12D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad18700a-4894-4c51-9d92-68514c853b0c	7e2e1f2f-9929-485e-8b8f-cb092a7e3b1c	g.chr6:112430676G>A	ENST00000230538.7	-	39	5833	c.5436C>T	c.(5434-5436)agC>agT	p.S1812S	LAMA4_ENST00000522006.1_Silent_p.S1805S|LAMA4_ENST00000389463.4_Silent_p.S1805S|LAMA4_ENST00000424408.2_Silent_p.S1805S	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN	laminin, alpha 4	1812	Laminin G-like 5. {ECO:0000255|PROSITE- ProRule:PRU00122}.				blood vessel development (GO:0001568)|brown fat cell differentiation (GO:0050873)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)	extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		TTACGGCGCCGCTGACCAGGG	0.532																																						ENST00000230538.7																			0				NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100						c.(5434-5436)agC>agT		laminin, alpha 4							81	74	76					6																	112430676		2203	4300	6503	SO:0001819	synonymous_variant	3910				cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	extracellular matrix structural constituent|receptor binding	g.chr6:112430676G>A		CCDS34514.1, CCDS43491.1, CCDS43492.1	6q21	2014-09-17			ENSG00000112769	ENSG00000112769		"Laminins"	6484	protein-coding gene	gene with protein product		600133				7959779	Standard	NM_001105206		Approved	LAMA3	uc003pvu.3	Q16363	OTTHUMG00000015386	ENST00000230538.7:c.5436C>T	6.37:g.112430676G>A						LAMA4_ENST00000389463.4_Silent_p.S1805S|LAMA4_ENST00000424408.2_Silent_p.S1805S|LAMA4_ENST00000522006.1_Silent_p.S1805S	p.S1812S	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)	39	5833	-		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)	1812			Laminin G-like 5.		Q14731|Q14735|Q15335|Q4LE44|Q5SZG8|Q9BTB8|Q9UE18|Q9UJN9	Silent	SNP	ENST00000230538.7	37	c.5436C>T	CCDS43491.1																																																																																				0.532	LAMA4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041876.2	NM_001105206		3	52	0	0	0	1	0	3	52					A	112430676	G	A	112430676	2	1	335	1	0	0	0	0	0	0	0	1	8608	1078	38	1		1	LAMA4	6	112430676	Silent	SNP	G	TCGA-KK-A8I7-01A-21D-A364-08		112430676	58684391	5	17002											
SLC26A5	375611	broad.mit.edu	37	chr7	103017289	103017289	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagtatacatatataccgacGtctccatattcttttacaat	14	15	3	9	2	2	0	0	0	2	0	3	1	2	0	2	0	3	1	2	0	9	9			TCGA-KK-A8I7-01A-21D-A364-08	TCGA-KK-A8I7-11A-12D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad18700a-4894-4c51-9d92-68514c853b0c	7e2e1f2f-9929-485e-8b8f-cb092a7e3b1c	g.chr7:103017289G>A	ENST00000306312.3	-	19	2268	c.2007C>T	c.(2005-2007)gaC>gaT	p.D669D	SLC26A5_ENST00000393723.1_Silent_p.D639D|SLC26A5_ENST00000393735.2_Intron|SLC26A5_ENST00000393727.1_Silent_p.D671D|SLC26A5_ENST00000356767.4_Intron|SLC26A5_ENST00000354356.4_Silent_p.D102D|SLC26A5_ENST00000393730.1_Silent_p.D637D|SLC26A5_ENST00000393729.1_Silent_p.D632D|SLC26A5_ENST00000432958.2_Silent_p.D637D|SLC26A5_ENST00000339444.6_Silent_p.D669D	NM_198999.2	NP_945350.1	P58743	S26A5_HUMAN	solute carrier family 26 (anion exchanger), member 5	669	STAS. {ECO:0000255|PROSITE- ProRule:PRU00198}.				regulation of cell shape (GO:0008360)|regulation of membrane potential (GO:0042391)|sensory perception of sound (GO:0007605)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)	secondary active sulfate transmembrane transporter activity (GO:0008271)			endometrium(5)|kidney(2)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)	43						ATATACCGACGTCTCCATATT	0.308																																						ENST00000306312.3																			0				endometrium(5)|kidney(2)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)	43						c.(2005-2007)gaC>gaT		solute carrier family 26 (anion exchanger), member 5							110	113	112					7																	103017289		2203	4295	6498	SO:0001819	synonymous_variant	375611				regulation of cell shape|sensory perception of sound	integral to membrane	secondary active sulfate transmembrane transporter activity	g.chr7:103017289G>A	AC005064	CCDS5733.1, CCDS43630.1, CCDS55150.1, CCDS5732.1, CCDS43629.1	7q22	2013-07-18	2013-07-18	2005-09-13	ENSG00000170615	ENSG00000170615		"Solute carriers"	9359	protein-coding gene	gene with protein product	"deafness, neurosensory, autosomal recessive, 61"	604943	"prestin (motor protein)"	PRES		10821263	Standard	NM_206883		Approved	DFNB61	uc003vbz.3	P58743	OTTHUMG00000149911	ENST00000306312.3:c.2007C>T	7.37:g.103017289G>A						SLC26A5_ENST00000339444.6_Silent_p.D669D|SLC26A5_ENST00000432958.2_Silent_p.D637D|SLC26A5_ENST00000393735.2_Intron|SLC26A5_ENST00000393727.1_Silent_p.D671D|SLC26A5_ENST00000393730.1_Silent_p.D637D|SLC26A5_ENST00000393723.1_Silent_p.D639D|SLC26A5_ENST00000393729.1_Silent_p.D632D|SLC26A5_ENST00000354356.4_Silent_p.D102D|SLC26A5_ENST00000356767.4_Intron	p.D669D	NM_198999.2	NP_945350.1	P58743	S26A5_HUMAN			19	2268	-			669			STAS.		Q496J2|Q7Z7F3|Q86UF8|Q86UF9|Q86UG0	Silent	SNP	ENST00000306312.3	37	c.2007C>T	CCDS5733.1																																																																																				0.308	SLC26A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313860.1	NM_198999		4	108	0	0	0	1	0	4	108					A	103017289	G	A	103017289	2	1	335	1	0	0	0	0	0	0	0	1	14520	1136	40	1		1	SLC26A5	7	103017289	Silent	SNP	G	TCGA-KK-A8I7-01A-21D-A364-08		103017289	56121374	6	17003											
AKR1B15	441282	broad.mit.edu	37	chr7	134252993	134252993	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gactgtgcctatttctatgaGaatcaacatgaggtgggaga	12	11	12	6	0	2	3	1	2	1	2	2	6	2	3	1	2	2	0	1	2	4	3			TCGA-KK-A8I7-01A-21D-A364-08	TCGA-KK-A8I7-11A-12D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad18700a-4894-4c51-9d92-68514c853b0c	7e2e1f2f-9929-485e-8b8f-cb092a7e3b1c	g.chr7:134252993G>A	ENST00000457545.2	+	4	494	c.234G>A	c.(232-234)gaG>gaA	p.E78E	AKR1B15_ENST00000423958.1_Silent_p.E50E	NM_001080538.2	NP_001074007.2	C9JRZ8	AK1BF_HUMAN	aldo-keto reductase family 1, member B15	78							oxidoreductase activity (GO:0016491)			endometrium(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|urinary_tract(1)	18						ATTTCTATGAGAATCAACATG	0.478																																						ENST00000457545.2																			0				endometrium(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|urinary_tract(1)	18						c.(232-234)gaG>gaA		aldo-keto reductase family 1, member B15							125	130	128					7																	134252993		2203	4300	6503	SO:0001819	synonymous_variant	441282						oxidoreductase activity	g.chr7:134252993G>A		CCDS47715.1, CCDS47715.2	7q33	2009-09-09			ENSG00000227471	ENSG00000227471		"Aldo-keto reductases"	37281	protein-coding gene	gene with protein product							Standard	NM_001080538		Approved		uc011kpr.2	C9JRZ8	OTTHUMG00000155376	ENST00000457545.2:c.234G>A	7.37:g.134252993G>A						AKR1B15_ENST00000423958.1_Silent_p.E50E	p.E78E	NM_001080538.2	NP_001074007.2	C9JRZ8	AK1BF_HUMAN			4	494	+			78					C9J3V2	Silent	SNP	ENST00000457545.2	37	c.234G>A	CCDS47715.2																																																																																				0.478	AKR1B15-001	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000339726.2			12	89	0	0	0	1	0	12	89					A	134252993	G	A	134252993	2	1	335	1	0	0	0	0	0	0	0	1	468	933	33	3		3	AKR1B15	7	134252993	Silent	SNP	G	TCGA-KK-A8I7-01A-21D-A364-08	31235704	134252993	24885670	7	17004											
IKBKB	3551	broad.mit.edu	37	chr8	42171853	42171853	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tttgcaggcattcaaaagtgCggcagaagagtgaggtggac	12	8	15	6	1	1	3	1	1	0	2	1	4	1	4	0	4	2	3	0	4	3	2			TCGA-KK-A8I7-01A-21D-A364-08	TCGA-KK-A8I7-11A-12D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad18700a-4894-4c51-9d92-68514c853b0c	7e2e1f2f-9929-485e-8b8f-cb092a7e3b1c	g.chr8:42171853C>T	ENST00000520810.1	+	9	892	c.706C>T	c.(706-708)Cgg>Tgg	p.R236W	IKBKB_ENST00000379708.3_Missense_Mutation_p.R13W|IKBKB_ENST00000522147.1_Intron|IKBKB_ENST00000520835.1_Missense_Mutation_p.R234W|IKBKB_ENST00000416505.2_Missense_Mutation_p.R177W	NM_001556.2	NP_001547.1	O14920	IKKB_HUMAN	inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase beta	236	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				B cell homeostasis (GO:0001782)|cellular response to tumor necrosis factor (GO:0071356)|Fc-epsilon receptor signaling pathway (GO:0038095)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|I-kappaB phosphorylation (GO:0007252)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of cation channel activity (GO:2001259)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sodium ion transport (GO:0010765)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein phosphorylation (GO:0006468)|response to virus (GO:0009615)|serine phosphorylation of STAT protein (GO:0042501)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	CD40 receptor complex (GO:0035631)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|IkappaB kinase complex (GO:0008385)|nucleus (GO:0005634)	ATP binding (GO:0005524)|IkappaB kinase activity (GO:0008384)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|scaffold protein binding (GO:0097110)			breast(4)|lung(1)|ovary(2)|skin(1)	8	all_cancers(6;1.42e-24)|all_epithelial(6;1.02e-25)|all_lung(13;6.21e-12)|Lung NSC(13;1.04e-10)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211)	all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	BRCA - Breast invasive adenocarcinoma(8;1.37e-10)|Colorectal(10;0.00102)|OV - Ovarian serous cystadenocarcinoma(14;0.00168)|Lung(22;0.00467)|LUSC - Lung squamous cell carcinoma(45;0.024)|COAD - Colon adenocarcinoma(11;0.0264)		Acetylcysteine(DB06151)|Acetylsalicylic acid(DB00945)|Arsenic trioxide(DB01169)|Auranofin(DB00995)|Mesalazine(DB00244)|Sulfasalazine(DB00795)	TTCAAAAGTGCGGCAGAAGAG	0.423																																						ENST00000520810.1																			0				breast(4)|lung(1)|ovary(2)|skin(1)	8						c.(706-708)Cgg>Tgg		inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase beta	Arsenic trioxide(DB01169)|Auranofin(DB00995)						231	204	213					8																	42171853		2203	4300	6503	SO:0001583	missense	3551				anti-apoptosis|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription, DNA-dependent|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	CD40 receptor complex|cytosol|internal side of plasma membrane|membrane raft	ATP binding|identical protein binding|IkappaB kinase activity	g.chr8:42171853C>T	AF029684	CCDS6128.1, CCDS55228.1, CCDS56535.1	8p11.2	2008-08-18			ENSG00000104365	ENSG00000104365			5960	protein-coding gene	gene with protein product		603258				9878263, 9763654	Standard	NM_001556		Approved	IKK2, NFKBIKB, IKK-beta, IKKB	uc003xow.2	O14920	OTTHUMG00000164092	ENST00000520810.1:c.706C>T	8.37:g.42171853C>T	ENSP00000430684:p.Arg236Trp					IKBKB_ENST00000520835.1_Missense_Mutation_p.R234W|IKBKB_ENST00000379708.3_Missense_Mutation_p.R13W|IKBKB_ENST00000416505.2_Missense_Mutation_p.R177W|IKBKB_ENST00000522147.1_Intron	p.R236W	NM_001556.2	NP_001547.1	O14920	IKKB_HUMAN	BRCA - Breast invasive adenocarcinoma(8;1.37e-10)|Colorectal(10;0.00102)|OV - Ovarian serous cystadenocarcinoma(14;0.00168)|Lung(22;0.00467)|LUSC - Lung squamous cell carcinoma(45;0.024)|COAD - Colon adenocarcinoma(11;0.0264)		9	892	+	all_cancers(6;1.42e-24)|all_epithelial(6;1.02e-25)|all_lung(13;6.21e-12)|Lung NSC(13;1.04e-10)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211)	all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	236			Protein kinase.		B4DZ30|B4E0U4|O75327	Missense_Mutation	SNP	ENST00000520810.1	37	c.706C>T	CCDS6128.1	.	.	.	.	.	.	.	.	.	.	C	27.1	4.804450	0.90623	.	.	ENSG00000104365	ENST00000520810;ENST00000416505;ENST00000520835;ENST00000379708	T;T;T;T	0.43688	0.94;0.94;0.94;2.75	5.95	5.95	0.96441	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.053661	0.85682	D	0.000000	T	0.62660	0.2446	L	0.49350	1.555	0.58432	D	0.99999	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.87578	0.977;0.931;0.998;0.959;0.959;0.927	T	0.61357	-0.7079	10	0.72032	D	0.01	.	20.3854	0.98941	0.0:1.0:0.0:0.0	.	177;234;13;187;236;236	B4E0U4;O14920-2;B3KRB7;Q59GL9;O14920;Q32ND9	.;.;.;.;IKKB_HUMAN;.	W	236;177;234;13	ENSP00000430684:R236W;ENSP00000404920:R177W;ENSP00000430868:R234W;ENSP00000369030:R13W	ENSP00000369030:R13W	R	+	1	2	IKBKB	42291010	1.000000	0.71417	1.000000	0.80357	0.911000	0.54048	5.693000	0.68264	2.825000	0.97269	0.655000	0.94253	CGG		0.423	IKBKB-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377214.1			4	125	0	0	0	1	0	4	125					T	42171853	C	T	42171853	3	4	335	1	0	0	0	0	1	0	0	0	7611	759	27	1	736	1	IKBKB	8	42171853	Missense_Mutation	SNP	C	TCGA-KK-A8I7-01A-21D-A364-08		42171853	104192169	8	17005											
FAM135B	51059	broad.mit.edu	37	chr8	139263143	139263143	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acggtcaccgagatcacagaCaggtggaaatagtcgaacat	15	6	11	9	3	2	2	2	0	0	2	3	5	2	3	1	3	1	0	1	3	3	1			TCGA-KK-A8I7-01A-21D-A364-08	TCGA-KK-A8I7-11A-12D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad18700a-4894-4c51-9d92-68514c853b0c	7e2e1f2f-9929-485e-8b8f-cb092a7e3b1c	g.chr8:139263143C>A	ENST00000395297.1	-	6	653	c.483G>T	c.(481-483)ctG>ctT	p.L161L		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	161								p.L161L(2)		NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			AGATCACAGACAGGTGGAAAT	0.597										HNSCC(54;0.14)																												ENST00000395297.1																			2	Substitution - coding silent(2)	p.L161L(2)	lung(2)	NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238						c.(481-483)ctG>ctT		family with sequence similarity 135, member B							119	128	125					8																	139263143		2066	4207	6273	SO:0001819	synonymous_variant	51059							g.chr8:139263143C>A	AB196635	CCDS6375.2	8q24.23	2008-11-05			ENSG00000147724	ENSG00000147724			28029	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_015912		Approved	C8ORFK32	uc003yuy.3	Q49AJ0	OTTHUMG00000149864	ENST00000395297.1:c.483G>T	8.37:g.139263143C>A		HNSCC(54;0.14)					p.L161L	NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0805)		6	653	-	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		161					B5MDB3|O95879|Q2WGJ7|Q3KP46	Silent	SNP	ENST00000395297.1	37	c.483G>T	CCDS6375.2																																																																																				0.597	FAM135B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313590.3	NM_015912		19	87	1	0	2.35188e-11	1	2.51597e-11	19	87					A	139263143	C	A	139263143	2	1	335	1	0	0	0	0	0	0	0	1	5449	465	17	5		5	FAM135B	8	139263143	Silent	SNP	C	TCGA-KK-A8I7-01A-21D-A364-08	97091290	139263143	7100879	9	17006											
TLE1	7088	broad.mit.edu	37	chr9	84202651	84202651	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcgcgcaggtcccaggacCtgactgtgttgtccaaacca	8	8	10	15	2	0	1	0	1	0	0	3	2	2	2	5	2	1	2	5	2	1	1			TCGA-KK-A8I7-01A-21D-A364-08	TCGA-KK-A8I7-11A-12D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad18700a-4894-4c51-9d92-68514c853b0c	7e2e1f2f-9929-485e-8b8f-cb092a7e3b1c	g.chr9:84202651C>T	ENST00000376499.3	-	17	2986	c.1922G>A	c.(1921-1923)aGg>aAg	p.R641K		NM_005077.3	NP_005068.2	Q04724	TLE1_HUMAN	transducin-like enhancer of split 1 (E(sp1) homolog, Drosophila)	641					multicellular organismal development (GO:0007275)|negative regulation of anoikis (GO:2000811)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of Wnt signaling pathway (GO:0030178)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|positive regulation of gene expression (GO:0010628)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|identical protein binding (GO:0042802)|RNA polymerase II transcription corepressor activity (GO:0001106)|transcription factor binding (GO:0008134)			NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	29						GTCCCAGGACCTGACTGTGTT	0.597																																					NSCLC(155;1437 1995 30668 39354 45875)|Melanoma(16;266 781 14000 47728 51870)	ENST00000376499.3																			0				NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	29						c.(1921-1923)aGg>aAg		transducin-like enhancer of split 1 (E(sp1) homolog, Drosophila)							66	64	65					9																	84202651		2203	4300	6503	SO:0001583	missense	7088				negative regulation of Wnt receptor signaling pathway|organ morphogenesis|transcription, DNA-dependent|Wnt receptor signaling pathway		transcription factor binding	g.chr9:84202651C>T		CCDS6661.1	9q21.32	2013-01-10	2001-11-28		ENSG00000196781	ENSG00000196781		"WD repeat domain containing"	11837	protein-coding gene	gene with protein product	"enhancer of split groucho 1"	600189	"transducin-like enhancer of split 1, homolog of Drosophila E(sp1)"			8365415, 8808280	Standard	NM_005077		Approved	ESG1, GRG1, ESG	uc004aly.3	Q04724	OTTHUMG00000021008	ENST00000376499.3:c.1922G>A	9.37:g.84202651C>T	ENSP00000365682:p.Arg641Lys						p.R641K	NM_005077.3	NP_005068.2	Q04724	TLE1_HUMAN			17	2986	-			641					A8K495|Q5T3G4|Q969V9	Missense_Mutation	SNP	ENST00000376499.3	37	c.1922G>A	CCDS6661.1	.	.	.	.	.	.	.	.	.	.	c	37	6.133791	0.97315	.	.	ENSG00000196781	ENST00000376499	T	0.60548	0.18	5.76	5.76	0.90799	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40 repeat, conserved site (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.71204	0.3312	L	0.39147	1.195	0.80722	D	1	D;D	0.89917	1.0;0.998	D;D	0.97110	1.0;0.999	T	0.72447	-0.4291	10	0.87932	D	0	-19.5912	19.9738	0.97296	0.0:1.0:0.0:0.0	.	626;641	B4DEF9;Q04724	.;TLE1_HUMAN	K	641	ENSP00000365682:R641K	ENSP00000365682:R641K	R	-	2	0	TLE1	83392471	1.000000	0.71417	0.981000	0.43875	0.997000	0.91878	7.818000	0.86416	2.732000	0.93576	0.655000	0.94253	AGG		0.597	TLE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055407.1	NM_005077		5	62	0	0	0	1	0	5	62					T	84202651	C	T	84202651	3	4	335	1	0	0	0	0	1	0	0	0	15935	681	24	3	406	3	TLE1	9	84202651	Missense_Mutation	SNP	C	TCGA-KK-A8I7-01A-21D-A364-08		84202651	57010780	10	17007											
FANK1	92565	broad.mit.edu	37	chr10	127693527	127693527	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acatggcgcttcttggcaggCtagagacctgggaggctgta	8	9	15	9	1	1	1	0	0	1	1	1	3	1	2	1	5	0	5	1	5	2	4			TCGA-KK-A8I7-01A-21D-A364-08	TCGA-KK-A8I7-11A-12D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad18700a-4894-4c51-9d92-68514c853b0c	7e2e1f2f-9929-485e-8b8f-cb092a7e3b1c	g.chr10:127693527C>T	ENST00000368693.1	+	7	718	c.614C>T	c.(613-615)gCt>gTt	p.A205V	FANK1_ENST00000477963.1_3'UTR|FANK1_ENST00000368695.1_Missense_Mutation_p.A199V			Q8TC84	FANK1_HUMAN	fibronectin type III and ankyrin repeat domains 1	205						cytoplasm (GO:0005737)|nucleus (GO:0005634)				central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(10)|ovary(1)|urinary_tract(1)	21		all_lung(145;0.00752)|Lung NSC(174;0.0115)|Colorectal(57;0.0847)|all_neural(114;0.0936)				TCTTGGCAGGCTAGAGACCTG	0.532																																						ENST00000368695.1																			0				central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(10)|ovary(1)|urinary_tract(1)	21						c.(595-597)gCt>gTt		fibronectin type III and ankyrin repeat domains 1							165	157	160					10																	127693527		2203	4300	6503	SO:0001583	missense	92565					cytoplasm|nucleus		g.chr10:127693527C>T	BC024189	CCDS31309.1	10q26.2	2013-02-11	2005-03-01		ENSG00000203780	ENSG00000203780		"Ankyrin repeat domain containing", "Fibronectin type III domain containing"	23527	protein-coding gene	gene with protein product		611640	"fibronectin type 3 and ankyrin repeat domains 1"			12477932	Standard	NM_145235		Approved		uc001ljh.4	Q8TC84	OTTHUMG00000019241	ENST00000368693.1:c.614C>T	10.37:g.127693527C>T	ENSP00000357682:p.Ala205Val					FANK1_ENST00000477963.1_3'UTR|FANK1_ENST00000368693.1_Missense_Mutation_p.A205V	p.A199V	NM_145235.3	NP_660278.3	Q8TC84	FANK1_HUMAN			7	718	+		all_lung(145;0.00752)|Lung NSC(174;0.0115)|Colorectal(57;0.0847)|all_neural(114;0.0936)	205					Q6UXY9|Q6X7T6	Missense_Mutation	SNP	ENST00000368693.1	37	c.596C>T	CCDS31309.1	.	.	.	.	.	.	.	.	.	.	C	13.55	2.270434	0.40194	.	.	ENSG00000203780	ENST00000368695;ENST00000368693;ENST00000368691;ENST00000368692	T;T;T	0.67865	-0.08;-0.08;-0.29	5.79	4.87	0.63330	Ankyrin repeat-containing domain (4);	0.637984	0.15190	N	0.275622	T	0.65626	0.2709	L	0.46567	1.45	0.26941	N	0.966244	P;B;B	0.40083	0.702;0.421;0.338	B;B;B	0.43990	0.438;0.254;0.239	T	0.57665	-0.7772	10	0.33940	T	0.23	-8.4495	14.0992	0.65044	0.0:0.7128:0.2872:0.0	.	231;205;205	Q8TC84-3;Q8TC84-2;Q8TC84	.;.;FANK1_HUMAN	V	199;205;183;231	ENSP00000357684:A199V;ENSP00000357682:A205V;ENSP00000357680:A183V	ENSP00000357680:A183V	A	+	2	0	FANK1	127683517	0.004000	0.15560	0.015000	0.15790	0.587000	0.36485	1.833000	0.39161	1.408000	0.46895	0.655000	0.94253	GCT		0.532	FANK1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_145235		8	92	0	0	0	1	0	8	92					T	127693527	C	T	127693527	3	4	335	1	0	0	0	0	1	0	0	0	5672	797	28	3	640	3	FANK1	10	127693527	Missense_Mutation	SNP	C	TCGA-KK-A8I7-01A-21D-A364-08		127693527	7841220	11	17008											
OR4C6	219432	broad.mit.edu	37	chr11	55432865	55432865	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atgtcatgttctcatctgtcGttgcccccaaggtgattgta	7	15	9	10	1	3	1	2	1	2	0	5	1	3	1	2	1	1	3	2	1	2	4	rs201388016	byFrequency	TCGA-KK-A8I7-01A-21D-A364-08	TCGA-KK-A8I7-11A-12D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad18700a-4894-4c51-9d92-68514c853b0c	7e2e1f2f-9929-485e-8b8f-cb092a7e3b1c	g.chr11:55432865G>A	ENST00000314259.3	+	1	252	c.223G>A	c.(223-225)Gtt>Att	p.V75I		NM_001004704.1	NP_001004704.1	Q8NH72	OR4C6_HUMAN	olfactory receptor, family 4, subfamily C, member 6	75						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|lung(49)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	71						CTCATCTGTCGTTGCCCCCAA	0.448													g|||	9	0.00179712	8e-04	0	5008	,	,		19397	0.002		0.001	False		,,,				2504	0.0051					ENST00000314259.3																			0				breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|lung(49)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	71						c.(223-225)Gtt>Att		olfactory receptor, family 4, subfamily C, member 6		G	ILE/VAL	1,4399	2.1+/-5.4	0,1,2199	248	215	226		223	-2.1	0	11		226	3,8589	3.0+/-9.4	0,3,4293	yes	missense	OR4C6	NM_001004704.1	29	0,4,6492	AA,AG,GG		0.0349,0.0227,0.0308	benign	75/310	55432865	4,12988	2200	4296	6496	SO:0001583	missense	219432				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55432865G>A	CR593785	CCDS31506.1	11q11	2012-08-09			ENSG00000181903	ENSG00000181903		"GPCR / Class A : Olfactory receptors"	14743	protein-coding gene	gene with protein product							Standard	NM_001004704		Approved		uc010rik.2	Q8NH72	OTTHUMG00000166800	ENST00000314259.3:c.223G>A	11.37:g.55432865G>A	ENSP00000324769:p.Val75Ile						p.V75I	NM_001004704.1	NP_001004704.1	Q8NH72	OR4C6_HUMAN			1	252	+			75					B2RP11|Q6IFD2	Missense_Mutation	SNP	ENST00000314259.3	37	c.223G>A	CCDS31506.1	2	9.157509157509158E-4	1	0.0020325203252032522	0	0.0	0	0.0	1	0.0013192612137203166	G	0.018	-1.476546	0.01035	2.27E-4	3.49E-4	ENSG00000181903	ENST00000314259	T	0.01406	4.93	3.83	-2.14	0.07123	GPCR, rhodopsin-like superfamily (1);	0.395490	0.18367	N	0.143383	T	0.00608	0.0020	N	0.05177	-0.1	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.47774	-0.9091	10	0.02654	T	1	.	5.3444	0.16000	0.5373:0.149:0.3137:0.0	.	75	Q8NH72	OR4C6_HUMAN	I	75	ENSP00000324769:V75I	ENSP00000324769:V75I	V	+	1	0	OR4C6	55189441	0.000000	0.05858	0.003000	0.11579	0.001000	0.01503	0.095000	0.15127	-0.002000	0.14469	-1.261000	0.01458	GTT		0.448	OR4C6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391504.1	NM_001004704		7	118	0	0	0	1	0	7	118					A	55432865	G	A	55432865	3	1	335	1	0	0	0	0	1	0	0	0	11052	1145	40	1	225	1	OR4C6	11	55432865	Missense_Mutation	SNP	G	TCGA-KK-A8I7-01A-21D-A364-08		55432865	79573651	12	17009											
NCAPD3	23310	broad.mit.edu	37	chr11	134029950	134029950	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agaagtccttgagctcatctCggtaatcctgcatcacctcc	9	11	7	14	1	3	2	2	1	1	1	7	2	6	2	4	1	2	3	4	1	2	2	rs375438498		TCGA-KK-A8I7-01A-21D-A364-08	TCGA-KK-A8I7-11A-12D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad18700a-4894-4c51-9d92-68514c853b0c	7e2e1f2f-9929-485e-8b8f-cb092a7e3b1c	g.chr11:134029950C>T	ENST00000534548.2	-	29	3768	c.3704G>A	c.(3703-3705)cGa>cAa	p.R1235Q		NM_015261.2	NP_056076.1	P42695	CNDD3_HUMAN	non-SMC condensin II complex, subunit D3	1235					mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	germinal vesicle (GO:0042585)|membrane (GO:0016020)|nuclear condensin complex (GO:0000799)|nuclear pericentric heterochromatin (GO:0031618)|nucleoplasm (GO:0005654)	methylated histone binding (GO:0035064)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_hematologic(175;0.127)	all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227)		GAGCTCATCTCGGTAATCCTG	0.488																																						ENST00000534548.2																			0				NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						c.(3703-3705)cGa>cAa		non-SMC condensin II complex, subunit D3		C	GLN/ARG	0,4402		0,0,2201	118	107	111		3704	3.5	0.8	11		111	1,8593	1.2+/-3.3	0,1,4296	no	missense	NCAPD3	NM_015261.2	43	0,1,6497	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging	1235/1499	134029950	1,12995	2201	4297	6498	SO:0001583	missense	23310				cell division|mitotic chromosome condensation	nuclear centromeric heterochromatin|nuclear condensin complex	methylated histone residue binding	g.chr11:134029950C>T	AK124878	CCDS31723.1	11q25	2008-02-04			ENSG00000151503	ENSG00000151503			28952	protein-coding gene	gene with protein product		609276				7584044, 8619474, 14532007	Standard	NM_015261		Approved	hCAP-D3, CAP-D3, hHCP-6, KIAA0056, FLJ42888, hcp-6	uc001qhd.1	P42695	OTTHUMG00000167172	ENST00000534548.2:c.3704G>A	11.37:g.134029950C>T	ENSP00000433681:p.Arg1235Gln						p.R1235Q	NM_015261.2	NP_056076.1	P42695	CNDD3_HUMAN		Epithelial(10;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227)	29	3768	-	all_hematologic(175;0.127)	all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)	1235					A6NFS2|Q4KMQ9	Missense_Mutation	SNP	ENST00000534548.2	37	c.3704G>A	CCDS31723.1	.	.	.	.	.	.	.	.	.	.	C	17.39	3.376419	0.61735	0.0	1.16E-4	ENSG00000151503	ENST00000534548;ENST00000527944	T;T	0.65549	-0.16;-0.16	5.36	3.5	0.40072	Armadillo-type fold (1);	0.181068	0.48767	N	0.000162	T	0.48857	0.1523	L	0.47716	1.5	0.80722	D	1	P;P	0.35793	0.51;0.521	B;B	0.24541	0.046;0.054	T	0.50355	-0.8838	10	0.66056	D	0.02	-5.4033	10.1003	0.42499	0.0:0.7847:0.0:0.2153	.	1235;295	P42695;Q96FA6	CNDD3_HUMAN;.	Q	1235;140	ENSP00000433681:R1235Q;ENSP00000432532:R140Q	ENSP00000432532:R140Q	R	-	2	0	NCAPD3	133535160	0.996000	0.38824	0.799000	0.32177	0.983000	0.72400	3.324000	0.52022	0.750000	0.32877	0.655000	0.94253	CGA		0.488	NCAPD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393575.2	NM_015261		10	73	0	0	0	1	0	10	73					T	134029950	C	T	134029950	3	4	335	1	0	0	0	0	1	0	0	0	10206	884	31	2	820	2	NCAPD3	11	134029950	Missense_Mutation	SNP	C	TCGA-KK-A8I7-01A-21D-A364-08	78597085	134029950	976566	13	17010											
ADCY6	112	broad.mit.edu	37	chr12	49170258	49170258	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttggccagggtcacatcattGgaccacacatcgaactgcca	11	8	9	13	1	2	0	2	0	0	0	3	2	2	1	3	3	2	0	3	3	1	2			TCGA-KK-A8I7-01A-21D-A364-08	TCGA-KK-A8I7-11A-12D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad18700a-4894-4c51-9d92-68514c853b0c	7e2e1f2f-9929-485e-8b8f-cb092a7e3b1c	g.chr12:49170258G>A	ENST00000307885.4	-	6	2182	c.1488C>T	c.(1486-1488)tcC>tcT	p.S496S	ADCY6_ENST00000550422.1_Silent_p.S496S|ADCY6_ENST00000552090.1_5'UTR|ADCY6_ENST00000357869.3_Silent_p.S496S	NM_015270.3	NP_056085.1	O43306	ADCY6_HUMAN	adenylate cyclase 6	496					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cAMP biosynthetic process (GO:0006171)|cellular response to catecholamine stimulus (GO:0071870)|cellular response to glucagon stimulus (GO:0071377)|cellular response to prostaglandin E stimulus (GO:0071380)|dopamine receptor signaling pathway (GO:0007212)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|negative regulation of neuron projection development (GO:0010977)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cilium (GO:0005929)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)			breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(16)|prostate(1)|skin(1)|urinary_tract(1)	29						TCACATCATTGGACCACACAT	0.647																																						ENST00000307885.4																			0				breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(16)|prostate(1)|skin(1)|urinary_tract(1)	29						c.(1486-1488)tcC>tcT		adenylate cyclase 6							69	61	64					12																	49170258		2203	4299	6502	SO:0001819	synonymous_variant	112				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane	ATP binding|metal ion binding	g.chr12:49170258G>A		CCDS8767.1, CCDS8768.1	12q12-q13	2013-02-04				ENSG00000174233	4.6.1.1	"Adenylate cyclases"	237	protein-coding gene	gene with protein product		600294					Standard	NM_015270		Approved	AC6	uc001rsh.4	O43306		ENST00000307885.4:c.1488C>T	12.37:g.49170258G>A						ADCY6_ENST00000552090.1_5'UTR|ADCY6_ENST00000357869.3_Silent_p.S496S|ADCY6_ENST00000550422.1_Silent_p.S496S	p.S496S	NM_015270.3	NP_056085.1	O43306	ADCY6_HUMAN			6	2182	-			496					Q9NR75|Q9UDB0	Silent	SNP	ENST00000307885.4	37	c.1488C>T	CCDS8767.1																																																																																				0.647	ADCY6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408863.1	NM_020983		5	36	0	0	0	1	0	5	36					A	49170258	G	A	49170258	2	1	335	1	0	0	0	0	0	0	0	1	298	1335	47	3		3	ADCY6	12	49170258	Silent	SNP	G	TCGA-KK-A8I7-01A-21D-A364-08		49170258	84681637	14	17011											
TDP1	55775	broad.mit.edu	37	chr14	90429610	90429610	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	caggtacacctgttccgaggCccagaaagctgcacacaaga	13	5	10	13	1	0	2	0	0	0	2	1	3	1	2	3	2	3	4	3	2	3	2			TCGA-KK-A8I7-01A-21D-A364-08	TCGA-KK-A8I7-11A-12D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad18700a-4894-4c51-9d92-68514c853b0c	7e2e1f2f-9929-485e-8b8f-cb092a7e3b1c	g.chr14:90429610C>A	ENST00000335725.4	+	3	402	c.152C>A	c.(151-153)gCc>gAc	p.A51D	TDP1_ENST00000555880.1_Missense_Mutation_p.A51D|TDP1_ENST00000393454.2_Missense_Mutation_p.A51D|TDP1_ENST00000393452.3_Missense_Mutation_p.A51D|TDP1_ENST00000555565.1_Intron|TDP1_ENST00000357382.3_5'UTR	NM_018319.3	NP_060789.2	Q9NUW8	TYDP1_HUMAN	tyrosyl-DNA phosphodiesterase 1	51					cell death (GO:0008219)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|single strand break repair (GO:0000012)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	3'-tyrosyl-DNA phosphodiesterase activity (GO:0017005)|double-stranded DNA binding (GO:0003690)|exonuclease activity (GO:0004527)|single-stranded DNA binding (GO:0003697)			NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|prostate(1)|urinary_tract(1)	25		all_cancers(154;0.185)		COAD - Colon adenocarcinoma(157;0.23)		TGTTCCGAGGCCCAGAAAGCT	0.488								Repair of DNA-protein crosslinks																														ENST00000335725.4																			0				NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|prostate(1)|urinary_tract(1)	25						c.(151-153)gCc>gAc	Repair of DNA-protein crosslinks	tyrosyl-DNA phosphodiesterase 1							112	106	108					14																	90429610		2203	4300	6503	SO:0001583	missense	55775				cell death|double-strand break repair|single strand break repair	cytoplasm|nucleus	3'-tyrosyl-DNA phosphodiesterase activity|double-stranded DNA binding|exonuclease activity|protein binding|single-stranded DNA binding	g.chr14:90429610C>A	AF182002	CCDS9888.1	14q32.11	2008-08-11				ENSG00000042088			18884	protein-coding gene	gene with protein product		607198				11839309, 12244316	Standard	XM_005267847		Approved	FLJ11090, SCAN1	uc001xxz.3	Q9NUW8		ENST00000335725.4:c.152C>A	14.37:g.90429610C>A	ENSP00000337353:p.Ala51Asp					TDP1_ENST00000555565.1_Intron|TDP1_ENST00000393454.2_Missense_Mutation_p.A51D|TDP1_ENST00000357382.3_5'UTR|TDP1_ENST00000393452.3_Missense_Mutation_p.A51D|TDP1_ENST00000555880.1_Missense_Mutation_p.A51D	p.A51D	NM_018319.3	NP_060789.2	Q9NUW8	TYDP1_HUMAN		COAD - Colon adenocarcinoma(157;0.23)	3	402	+		all_cancers(154;0.185)	51					Q2HXX4|Q86TV8|Q96BK7|Q9NZM7|Q9NZM8	Missense_Mutation	SNP	ENST00000335725.4	37	c.152C>A	CCDS9888.1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.403879	0.83230	.	.	ENSG00000042088	ENST00000393452;ENST00000554180;ENST00000393454;ENST00000335725;ENST00000556867;ENST00000553527;ENST00000553989;ENST00000556498;ENST00000555880	T;T;T;T;T;T;T;T;T	0.40756	1.19;1.85;1.5;1.5;1.04;1.04;1.04;1.02;1.21	5.55	5.55	0.83447	.	0.050382	0.85682	D	0.000000	T	0.64918	0.2642	M	0.68952	2.095	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;0.997;1.0;0.998	T	0.62581	-0.6824	10	0.42905	T	0.14	-22.6395	19.5117	0.95144	0.0:1.0:0.0:0.0	.	51;51;51;51	G3V2F4;E7EPD8;G3V4W8;Q9NUW8	.;.;.;TYDP1_HUMAN	D	51	ENSP00000377098:A51D;ENSP00000450872:A51D;ENSP00000377099:A51D;ENSP00000337353:A51D;ENSP00000452279:A51D;ENSP00000451358:A51D;ENSP00000452333:A51D;ENSP00000452183:A51D;ENSP00000450628:A51D	ENSP00000337353:A51D	A	+	2	0	TDP1	89499363	1.000000	0.71417	0.978000	0.43139	0.613000	0.37349	6.417000	0.73337	2.595000	0.87683	0.561000	0.74099	GCC		0.488	TDP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411239.1	NM_018319		4	57	1	0	2.56e-06	1	2.67636e-06	4	57					A	90429610	C	A	90429610	3	1	335	1	0	0	0	0	1	0	0	0	15725	739	26	5	154	5	TDP1	14	90429610	Missense_Mutation	SNP	C	TCGA-KK-A8I7-01A-21D-A364-08		90429610	16919930	15	17012											
MAP1A	4130	broad.mit.edu	37	chr15	43816202	43816202	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	actttcttcctttgccacatCagtggctgaggaccaatctg	8	13	8	12	0	3	1	1	1	2	0	4	2	4	2	3	2	1	1	3	2	1	3			TCGA-KK-A8I7-01A-21D-A364-08	TCGA-KK-A8I7-11A-12D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad18700a-4894-4c51-9d92-68514c853b0c	7e2e1f2f-9929-485e-8b8f-cb092a7e3b1c	g.chr15:43816202C>T	ENST00000300231.5	+	4	2981	c.2531C>T	c.(2530-2532)tCa>tTa	p.S844L	MAP1A_ENST00000399453.1_Missense_Mutation_p.S844L|MAP1A_ENST00000382031.1_Missense_Mutation_p.S1082L			P78559	MAP1A_HUMAN	microtubule-associated protein 1A	844					microtubule cytoskeleton organization (GO:0000226)|sensory perception of sound (GO:0007605)	cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)	structural molecule activity (GO:0005198)			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	TTTGCCACATCAGTGGCTGAG	0.532																																						ENST00000382031.1																			0				breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66						c.(3244-3246)tCa>tTa		microtubule-associated protein 1A	Estramustine(DB01196)						55	54	54					15																	43816202		1979	4172	6151	SO:0001583	missense	4130					cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity	g.chr15:43816202C>T	U38292	CCDS42031.1	15q15.3	2006-06-15			ENSG00000166963	ENSG00000166963			6835	protein-coding gene	gene with protein product		600178		MAP1L		7806212, 7629894	Standard	XM_005254385		Approved		uc001zrt.3	P78559	OTTHUMG00000059756	ENST00000300231.5:c.2531C>T	15.37:g.43816202C>T	ENSP00000300231:p.Ser844Leu					MAP1A_ENST00000399453.1_Missense_Mutation_p.S844L|MAP1A_ENST00000300231.5_Missense_Mutation_p.S844L	p.S1082L			P78559	MAP1A_HUMAN		GBM - Glioblastoma multiforme(94;3.05e-06)	5	3276	+		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)	844					O95643|Q12973|Q15882|Q9UJT4	Missense_Mutation	SNP	ENST00000300231.5	37	c.3245C>T	CCDS42031.1	.	.	.	.	.	.	.	.	.	.	C	16.86	3.238307	0.58886	.	.	ENSG00000166963	ENST00000382031;ENST00000399453;ENST00000300231	T;T;T	0.56776	0.44;0.44;0.44	4.98	4.98	0.66077	.	.	.	.	.	T	0.73946	0.3652	M	0.77616	2.38	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.75693	-0.3229	9	0.51188	T	0.08	-10.2277	18.4428	0.90673	0.0:1.0:0.0:0.0	.	844	P78559	MAP1A_HUMAN	L	1082;844;844	ENSP00000371462:S1082L;ENSP00000382380:S844L;ENSP00000300231:S844L	ENSP00000300231:S844L	S	+	2	0	MAP1A	41603494	1.000000	0.71417	0.816000	0.32577	0.997000	0.91878	7.165000	0.77544	2.582000	0.87167	0.655000	0.94253	TCA		0.532	MAP1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000132894.5	NM_002373		5	37	0	0	0	1	0	5	37					T	43816202	C	T	43816202	3	4	335	1	0	0	0	0	1	0	0	0	9227	838	29	3	2533	3	MAP1A	15	43816202	Missense_Mutation	SNP	C	TCGA-KK-A8I7-01A-21D-A364-08		43816202	58715190	16	17013											
TEX9	374618	broad.mit.edu	37	chr15	56680674	56680674	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tatttttggcctgtagaggtCtgttaccatctgaagggata	9	15	11	6	0	2	2	0	1	2	1	2	3	2	3	2	3	1	2	2	3	5	6			TCGA-KK-A8I7-01A-21D-A364-08	TCGA-KK-A8I7-11A-12D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad18700a-4894-4c51-9d92-68514c853b0c	7e2e1f2f-9929-485e-8b8f-cb092a7e3b1c	g.chr15:56680674C>G	ENST00000352903.2	+	5	292	c.268C>G	c.(268-270)Ctg>Gtg	p.L90V	TEX9_ENST00000558083.2_Missense_Mutation_p.L15V|TEX9_ENST00000537232.1_Missense_Mutation_p.L15V|TEX9_ENST00000561221.2_Missense_Mutation_p.L90V	NM_198524.1	NP_940926.1	Q8N6V9	TEX9_HUMAN	testis expressed 9	90										cervix(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(1)	14				all cancers(107;0.0394)|GBM - Glioblastoma multiforme(80;0.056)		CTGTAGAGGTCTGTTACCATC	0.308																																						ENST00000558083.2																			0				cervix(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(1)	14						c.(43-45)Ctg>Gtg		testis expressed 9							101	101	101					15																	56680674		2193	4291	6484	SO:0001583	missense	374618							g.chr15:56680674C>G	BC028119	CCDS10157.1, CCDS66776.1	15q21.3	2007-03-13	2007-03-13		ENSG00000151575	ENSG00000151575			29585	protein-coding gene	gene with protein product			"testis expressed sequence 9"				Standard	XM_005254361		Approved		uc002adp.3	Q8N6V9	OTTHUMG00000132035	ENST00000352903.2:c.268C>G	15.37:g.56680674C>G	ENSP00000342169:p.Leu90Val					TEX9_ENST00000561221.2_Missense_Mutation_p.L90V|TEX9_ENST00000352903.2_Missense_Mutation_p.L90V|TEX9_ENST00000537232.1_Missense_Mutation_p.L15V	p.L15V			Q8N6V9	TEX9_HUMAN		all cancers(107;0.0394)|GBM - Glioblastoma multiforme(80;0.056)	4	373	+			90					B4DH73	Missense_Mutation	SNP	ENST00000352903.2	37	c.43C>G	CCDS10157.1	.	.	.	.	.	.	.	.	.	.	C	0.238	-1.015697	0.02078	.	.	ENSG00000151575	ENST00000352903;ENST00000537232	.	.	.	5.45	2.22	0.28083	.	1.167680	0.06118	N	0.668350	T	0.38772	0.1053	L	0.50333	1.59	0.09310	N	1	B;B	0.30973	0.277;0.302	B;B	0.33042	0.157;0.154	T	0.30592	-0.9973	9	0.29301	T	0.29	-1.5872	7.2647	0.26224	0.0:0.6634:0.138:0.1986	.	15;90	B4DH73;Q8N6V9	.;TEX9_HUMAN	V	90;15	.	ENSP00000342169:L90V	L	+	1	2	TEX9	54467966	0.000000	0.05858	0.000000	0.03702	0.075000	0.17131	0.140000	0.16056	0.087000	0.17167	-0.795000	0.03280	CTG		0.308	TEX9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255048.2	NM_198524		17	110	0	0	0	1	0	17	110					G	56680674	C	G	56680674	3	3	335	1	0	0	0	0	1	0	0	0	15781	912	32	5	286	5	TEX9	15	56680674	Missense_Mutation	SNP	C	TCGA-KK-A8I7-01A-21D-A364-08	12864472	56680674	45850718	17	17014											
VPS53	55275	broad.mit.edu	37	chr17	465966	465966	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gaaatcagccacaaaccgatCtatcagctctccgaggttcc	12	8	7	14	2	4	0	2	0	2	0	6	3	5	0	4	1	3	2	4	1	3	2			TCGA-KK-A8I7-01A-21D-A364-08	TCGA-KK-A8I7-11A-12D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad18700a-4894-4c51-9d92-68514c853b0c	7e2e1f2f-9929-485e-8b8f-cb092a7e3b1c	g.chr17:465966C>T	ENST00000571805.1	-	14	1469	c.1333G>A	c.(1333-1335)Gat>Aat	p.D445N	VPS53_ENST00000576149.1_5'UTR|VPS53_ENST00000401468.3_Missense_Mutation_p.D168N|VPS53_ENST00000446250.2_Missense_Mutation_p.D247N|VPS53_ENST00000574029.1_Intron|VPS53_ENST00000291074.5_Missense_Mutation_p.D416N|VPS53_ENST00000437048.2_Missense_Mutation_p.D445N			Q5VIR6	VPS53_HUMAN	vacuolar protein sorting 53 homolog (S. cerevisiae)	445					protein transport (GO:0015031)	endosome (GO:0005768)|GARP complex (GO:0000938)|membrane (GO:0016020)				breast(1)|endometrium(4)|large_intestine(5)|lung(8)|prostate(1)	19				UCEC - Uterine corpus endometrioid carcinoma (25;0.0265)		ACAAACCGATCTATCAGCTCT	0.458																																						ENST00000437048.2																			0				breast(1)|endometrium(4)|large_intestine(5)|lung(8)|prostate(1)	19						c.(1333-1335)Gat>Aat		vacuolar protein sorting 53 homolog (S. cerevisiae)							53	50	51					17																	465966		2203	4300	6503	SO:0001583	missense	55275				protein transport	endosome membrane|Golgi apparatus		g.chr17:465966C>T		CCDS10995.1, CCDS45558.1	17p13.3	2007-07-13	2006-12-19			ENSG00000141252			25608	protein-coding gene	gene with protein product		615850	"vacuolar protein sorting 53 (yeast)"			15878329	Standard	NM_018289		Approved	FLJ10979, HCCS1	uc010cjo.2	Q5VIR6		ENST00000571805.1:c.1333G>A	17.37:g.465966C>T	ENSP00000459312:p.Asp445Asn					VPS53_ENST00000571805.1_Missense_Mutation_p.D445N|VPS53_ENST00000446250.2_Missense_Mutation_p.D247N|VPS53_ENST00000574029.1_Intron|VPS53_ENST00000401468.3_Missense_Mutation_p.D168N|VPS53_ENST00000291074.5_Missense_Mutation_p.D416N|VPS53_ENST00000576149.1_5'UTR	p.D445N	NM_001128159.2	NP_001121631.1	Q5VIR6	VPS53_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.0265)	14	1479	-			445					A8K2S8|B3FH42|Q8WYW3|Q9BRR2|Q9BY02|Q9NV25	Missense_Mutation	SNP	ENST00000571805.1	37	c.1333G>A		.	.	.	.	.	.	.	.	.	.	C	32	5.107423	0.94292	.	.	ENSG00000141252	ENST00000437048;ENST00000446250;ENST00000291074;ENST00000401468;ENST00000389040	T;T;T;T;T	0.33865	1.39;1.39;1.39;1.39;1.5	5.97	5.97	0.96955	Vps53-like, N-terminal (1);	0.041315	0.85682	D	0.000000	T	0.50137	0.1598	M	0.70595	2.14	0.80722	D	1	B;B;P;B;B	0.39601	0.097;0.218;0.68;0.179;0.332	B;B;P;B;P	0.44946	0.196;0.167;0.465;0.33;0.465	T	0.48603	-0.9021	10	0.59425	D	0.04	-23.5019	19.412	0.94677	0.0:1.0:0.0:0.0	.	168;445;247;445;416	E7EVT8;Q5VIR6-4;G3V0H8;Q5VIR6;Q5VIR6-2	.;.;.;VPS53_HUMAN;.	N	445;247;416;168;397	ENSP00000401435:D445N;ENSP00000394386:D247N;ENSP00000291074:D416N;ENSP00000384294:D168N;ENSP00000373692:D397N	ENSP00000291074:D416N	D	-	1	0	VPS53	412716	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.427000	0.80284	2.828000	0.97474	0.655000	0.94253	GAT		0.458	VPS53-006	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000436940.2	NM_018289		4	64	0	0	0	1	0	4	64					T	465966	C	T	465966	3	4	335	1	0	0	0	0	1	0	0	0	17212	913	32	3	1216	3	VPS53	17	465966	Missense_Mutation	SNP	C	TCGA-KK-A8I7-01A-21D-A364-08		465966	80729244	18	17015											
KRT16	3868	broad.mit.edu	37	chr17	39767650	39767650	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctccttcaggccttcgatctGcatctccaggtcagtcctgg	5	12	9	15	1	4	0	2	0	2	0	8	1	6	0	4	3	1	1	4	3	0	2			TCGA-KK-A8I7-01A-21D-A364-08	TCGA-KK-A8I7-11A-12D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad18700a-4894-4c51-9d92-68514c853b0c	7e2e1f2f-9929-485e-8b8f-cb092a7e3b1c	g.chr17:39767650G>A	ENST00000301653.4	-	3	782	c.718C>T	c.(718-720)Cag>Tag	p.Q240*		NM_005557.3	NP_005548.2	P08779	K1C16_HUMAN	keratin 16	240	Coil 1B.|Rod.				aging (GO:0007568)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|epidermis development (GO:0008544)|hair cycle (GO:0042633)|intermediate filament cytoskeleton organization (GO:0045104)|negative regulation of cell migration (GO:0030336)	cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)			NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23		Breast(137;0.000307)				CCTTCGATCTGCATCTCCAGG	0.637																																						ENST00000301653.4																			0				NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						c.(718-720)Cag>Tag		keratin 16							79	77	78					17																	39767650		2203	4300	6503	SO:0001587	stop_gained	3868				cell proliferation|epidermis development	intermediate filament	protein binding|structural constituent of cytoskeleton	g.chr17:39767650G>A	S79867	CCDS11401.1	17q21.2	2013-01-16	2008-08-01		ENSG00000186832	ENSG00000186832		"-", "Intermediate filaments type I, keratins (acidic)"	6423	protein-coding gene	gene with protein product	"focal non-epidermolytic palmoplantar keratoderma"	148067				2451124, 16831889	Standard	NM_005557		Approved	NEPPK	uc002hxg.4	P08779	OTTHUMG00000133495	ENST00000301653.4:c.718C>T	17.37:g.39767650G>A	ENSP00000301653:p.Gln240*						p.Q240*	NM_005557.3	NP_005548.2	P08779	K1C16_HUMAN			3	782	-		Breast(137;0.000307)	240			Coil 1B.|Rod.		A8K488|P30654|Q16402|Q9UBG8	Nonsense_Mutation	SNP	ENST00000301653.4	37	c.718C>T	CCDS11401.1	.	.	.	.	.	.	.	.	.	.	G	36	5.737198	0.96865	.	.	ENSG00000186832	ENST00000301653	.	.	.	4.63	4.63	0.57726	.	0.000000	0.48767	D	0.000170	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	18.0402	0.89317	0.0:0.0:1.0:0.0	.	.	.	.	X	240	.	ENSP00000301653:Q240X	Q	-	1	0	KRT16	37021176	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	5.409000	0.66374	2.556000	0.86216	0.561000	0.74099	CAG		0.637	KRT16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257408.1	NM_005557		13	98	0	0	0	1	0	13	98					A	39767650	G	A	39767650	4	1	335	1	0	0	0	0	0	1	0	0	8453	1328	46	3	727	3	KRT16	17	39767650	Nonsense_Mutation	SNP	G	TCGA-KK-A8I7-01A-21D-A364-08	39301684	39767650	41427560	19	17016											
MYPOP	339344	broad.mit.edu	37	chr19	46393884	46393884	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcatagatagtagatttcaCggagatttccatcggccgcg	11	11	10	9	4	2	3	2	0	0	3	4	4	3	3	2	2	0	1	2	2	3	5			TCGA-KK-A8I7-01A-21D-A364-08	TCGA-KK-A8I7-11A-12D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad18700a-4894-4c51-9d92-68514c853b0c	7e2e1f2f-9929-485e-8b8f-cb092a7e3b1c	g.chr19:46393884C>T	ENST00000322217.5	-	3	1283	c.1197G>A	c.(1195-1197)ccG>ccA	p.P399P		NM_001012643.2	NP_001012661.1	Q86VE0	MYPOP_HUMAN	Myb-related transcription factor, partner of profilin	399						nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)			large_intestine(2)|lung(1)|skin(1)	4						GTAGATTTCACGGAGATTTCC	0.642																																						ENST00000322217.5																			0				large_intestine(2)|lung(1)|skin(1)	4						c.(1195-1197)ccG>ccA		Myb-related transcription factor, partner of profilin							36	39	38					19																	46393884		2091	4209	6300	SO:0001819	synonymous_variant	339344					nucleus	DNA binding	g.chr19:46393884C>T	BC044311	CCDS33055.1	19q13.32	2014-06-13			ENSG00000176182	ENSG00000176182			20178	protein-coding gene	gene with protein product	"p42 Myb-related transcription factor, partner of profilin"					15615774	Standard	NM_001012643		Approved	P42pop	uc002pdt.3	Q86VE0	OTTHUMG00000182486	ENST00000322217.5:c.1197G>A	19.37:g.46393884C>T							p.P399P	NM_001012643.2	NP_001012661.1	Q86VE0	MYPOP_HUMAN			3	1283	-			399						Silent	SNP	ENST00000322217.5	37	c.1197G>A	CCDS33055.1																																																																																				0.642	MYPOP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461684.1	NM_001012643		3	43	0	0	0	1	0	3	43					T	46393884	C	T	46393884	2	4	335	1	0	0	0	0	0	0	0	1	10099	523	19	1		1	MYPOP	19	46393884	Silent	SNP	C	TCGA-KK-A8I7-01A-21D-A364-08		46393884	12735099	20	17017											
TMPRSS15	5651	broad.mit.edu	37	chr21	19666747	19666747	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggtgatgtcttgagctgccaGtttttttccacaagctatta	8	16	9	8	0	1	2	0	2	1	0	2	2	2	2	2	1	3	3	2	1	3	6			TCGA-KK-A8I7-01A-21D-A364-08	TCGA-KK-A8I7-11A-12D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad18700a-4894-4c51-9d92-68514c853b0c	7e2e1f2f-9929-485e-8b8f-cb092a7e3b1c	g.chr21:19666747G>C	ENST00000284885.3	-	21	2359	c.2326C>G	c.(2326-2328)Ctg>Gtg	p.L776V		NM_002772.2	NP_002763	P98073	ENTK_HUMAN	transmembrane protease, serine 15	776						brush border (GO:0005903)|integral component of membrane (GO:0016021)	scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	85						TGAGCTGCCAGTTTTTTTCCA	0.423																																						ENST00000284885.3																			0				NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	85						c.(2326-2328)Ctg>Gtg		transmembrane protease, serine 15							89	99	95					21																	19666747		2203	4300	6503	SO:0001583	missense	5651				proteolysis	brush border|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity	g.chr21:19666747G>C		CCDS13571.1	21q21	2010-12-09	2010-04-21	2010-04-21	ENSG00000154646	ENSG00000154646		"Serine peptidases / Transmembrane"	9490	protein-coding gene	gene with protein product	"proenterokinase", "enteropeptidase"	606635	"protease, serine, 7 (enterokinase)"	PRSS7		8052624	Standard	NM_002772		Approved	ENTK, MGC133046	uc002ykw.3	P98073	OTTHUMG00000074518	ENST00000284885.3:c.2326C>G	21.37:g.19666747G>C	ENSP00000284885:p.Leu776Val						p.L776V	NM_002772.2	NP_002763.2	P98073	ENTK_HUMAN			21	2359	-			776					Q2NKL7	Missense_Mutation	SNP	ENST00000284885.3	37	c.2326C>G	CCDS13571.1	.	.	.	.	.	.	.	.	.	.	G	7.568	0.666088	0.14710	.	.	ENSG00000154646	ENST00000284885	D	0.86366	-2.11	5.94	-2.21	0.06973	Speract/scavenger receptor (1);Peptidase cysteine/serine, trypsin-like (1);Speract/scavenger receptor-related (1);	0.960292	0.08618	N	0.918913	D	0.82375	0.5023	L	0.56769	1.78	0.09310	N	1	P	0.35174	0.488	B	0.37731	0.257	T	0.69639	-0.5091	9	.	.	.	.	5.4482	0.16548	0.2065:0.0:0.3088:0.4846	.	776	P98073	ENTK_HUMAN	V	776	ENSP00000284885:L776V	.	L	-	1	2	TMPRSS15	18588618	0.003000	0.15002	0.000000	0.03702	0.571000	0.35966	-0.093000	0.11111	-0.405000	0.07599	-0.294000	0.09567	CTG		0.423	TMPRSS15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000158231.2	NM_002772		10	121	0	0	0	1	0	10	121					C	19666747	G	C	19666747	3	2	335	1	0	0	0	0	1	0	0	0	16243	1020	36	5	753	5	TMPRSS15	21	19666747	Missense_Mutation	SNP	G	TCGA-KK-A8I7-01A-21D-A364-08		19666747	28463148	21	17018											
WDR44	54521	broad.mit.edu	37	chrX	117532360	117532360	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cttcttacagtaatgacgcgGcacagtcagatgatgaagag	13	9	11	8	2	2	5	1	3	1	2	2	5	2	5	0	1	1	2	0	1	3	3			TCGA-KK-A8I7-01A-21D-A364-08	TCGA-KK-A8I7-11A-12D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad18700a-4894-4c51-9d92-68514c853b0c	7e2e1f2f-9929-485e-8b8f-cb092a7e3b1c	g.chrX:117532360G>A	ENST00000254029.3	+	8	1596	c.1201G>A	c.(1201-1203)Gca>Aca	p.A401T	WDR44_ENST00000371825.3_Missense_Mutation_p.A401T|WDR44_ENST00000371822.5_Missense_Mutation_p.A376T	NM_019045.4	NP_061918.3	Q5JSH3	WDR44_HUMAN	WD repeat domain 44	401						endosome (GO:0005768)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)				breast(4)|endometrium(2)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	33						TAATGACGCGGCACAGTCAGA	0.363																																						ENST00000254029.3																			0				breast(4)|endometrium(2)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	33						c.(1201-1203)Gca>Aca		WD repeat domain 44							134	115	122					X																	117532360		2203	4300	6503	SO:0001583	missense	54521					cytosol|endosome membrane|Golgi apparatus|perinuclear region of cytoplasm		g.chrX:117532360G>A	AK001978	CCDS14572.1, CCDS55482.1, CCDS55483.1	Xq24	2013-01-09			ENSG00000131725	ENSG00000131725		"WD repeat domain containing"	30512	protein-coding gene	gene with protein product						12477932	Standard	NM_019045		Approved	DKFZp686L20145, RPH11, RAB11BP	uc004eqn.3	Q5JSH3	OTTHUMG00000022254	ENST00000254029.3:c.1201G>A	X.37:g.117532360G>A	ENSP00000254029:p.Ala401Thr					WDR44_ENST00000371825.3_Missense_Mutation_p.A401T|WDR44_ENST00000371822.5_Missense_Mutation_p.A376T	p.A401T	NM_019045.4	NP_061918.3	Q5JSH3	WDR44_HUMAN			8	1596	+			401					B4DSE9|F8W913|Q0JS52|Q0JTF3|Q5JSH2|Q6ZSC1|Q7Z365|Q7Z3P6|Q8NAU8|Q8NHU5|Q9NUV4	Missense_Mutation	SNP	ENST00000254029.3	37	c.1201G>A	CCDS14572.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.37|16.37	3.103918|3.103918	0.56291|0.56291	.|.	.|.	ENSG00000131725|ENSG00000131725	ENST00000371822;ENST00000254029;ENST00000371825|ENST00000371848	T;T;T|.	0.74209|.	-0.82;-0.22;-0.09|.	5.92|5.92	5.05|5.05	0.67936|0.67936	.|.	0.045243|.	0.85682|.	N|.	0.000000|.	T|T	0.52565|0.52565	0.1742|0.1742	L|L	0.29908|0.29908	0.895|0.895	0.47994|0.47994	D|D	0.999561|0.999561	B;B;B;B|.	0.16166|.	0.001;0.005;0.016;0.0|.	B;B;B;B|.	0.14578|.	0.004;0.008;0.011;0.003|.	T|T	0.47249|0.47249	-0.9132|-0.9132	10|5	0.14656|.	T|.	0.56|.	-31.2477|-31.2477	12.5547|12.5547	0.56246|0.56246	0.082:0.0:0.918:0.0|0.082:0.0:0.918:0.0	.|.	376;401;401;401|.	F8W913;E9PCI7;Q5JSH3-2;Q5JSH3|.	.;.;.;WDR44_HUMAN|.	T|D	376;401;401|300	ENSP00000360887:A376T;ENSP00000254029:A401T;ENSP00000360890:A401T|.	ENSP00000254029:A401T|.	A|G	+|+	1|2	0|0	WDR44|WDR44	117416388|117416388	1.000000|1.000000	0.71417|0.71417	0.887000|0.887000	0.34795|0.34795	0.910000|0.910000	0.53928|0.53928	7.697000|7.697000	0.84279|0.84279	1.229000|1.229000	0.43630|0.43630	0.600000|0.600000	0.82982|0.82982	GCA|GGC		0.363	WDR44-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058001.1	NM_019045		3	45	0	0	0	1	0	3	45					A	117532360	G	A	117532360	3	1	335	1	0	0	0	0	1	0	0	0	17293	1203	42	3	1231	3	WDR44	23	117532360	Missense_Mutation	SNP	G	TCGA-KK-A8I7-01A-21D-A364-08		117532360	37738200	22	17019											
POLR1A	25885	broad.mit.edu	37	chr2	86258685	86258685	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	caccttccctgtggggatttCgttcctcctgcatgtcttca	4	15	8	14	1	2	0	1	0	1	0	6	1	5	1	4	2	1	2	4	2	0	4			TCGA-KK-A8I8-01A-11D-A364-08	TCGA-KK-A8I8-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99d7021e-f0da-44fb-8f6c-5bcd2c433a0e	fe39a0c2-56d9-445c-ab4b-744d4d21f8c2	g.chr2:86258685C>T	ENST00000263857.6	-	30	4724	c.4346G>A	c.(4345-4347)cGa>cAa	p.R1449Q	POLR1A_ENST00000409681.1_Missense_Mutation_p.R1449Q			O95602	RPA1_HUMAN	polymerase (RNA) I polypeptide A, 194kDa	1449					gene expression (GO:0010467)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase I complex (GO:0005736)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	63						GTGGGGATTTCGTtcctcctg	0.577																																						ENST00000263857.6																			0				NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	63						c.(4345-4347)cGa>cAa		polymerase (RNA) I polypeptide A, 194kDa							171	172	172					2																	86258685		2138	4232	6370	SO:0001583	missense	25885				termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	DNA-directed RNA polymerase I complex|nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|protein binding|zinc ion binding	g.chr2:86258685C>T	AK025568	CCDS42706.1	2p11.2	2013-01-21			ENSG00000068654	ENSG00000068654		"RNA polymerase subunits"	17264	protein-coding gene	gene with protein product						9236775	Standard	NM_015425		Approved	DKFZP586M0122, FLJ21915, RPO1-4, RPA1	uc002sqs.3	O95602	OTTHUMG00000153165	ENST00000263857.6:c.4346G>A	2.37:g.86258685C>T	ENSP00000263857:p.Arg1449Gln					POLR1A_ENST00000409681.1_Missense_Mutation_p.R1449Q	p.R1449Q			O95602	RPA1_HUMAN			30	4724	-			1449					B7Z7T0|D6W5M0|Q0VG05|Q9UEH0|Q9UFT9	Missense_Mutation	SNP	ENST00000263857.6	37	c.4346G>A	CCDS42706.1	.	.	.	.	.	.	.	.	.	.	C	10.65	1.409889	0.25465	.	.	ENSG00000068654	ENST00000263857;ENST00000409681	T;T	0.65549	-0.16;3.29	4.39	1.54	0.23209	RNA polymerase Rpb1, domain 5 (1);	2.038040	0.01705	N	0.027407	T	0.37073	0.0990	N	0.02539	-0.55	0.09310	N	1	B	0.14805	0.011	B	0.06405	0.002	T	0.30208	-0.9986	10	0.16420	T	0.52	-11.3218	8.3032	0.32027	0.0:0.7161:0.0:0.2839	.	1449	O95602	RPA1_HUMAN	Q	1449	ENSP00000263857:R1449Q;ENSP00000386300:R1449Q	ENSP00000263857:R1449Q	R	-	2	0	POLR1A	86112196	0.013000	0.17824	0.149000	0.22428	0.023000	0.10783	0.126000	0.15769	0.565000	0.29255	0.555000	0.69702	CGA		0.577	POLR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329830.2	NM_015425		22	31	0	0	0	1	0	22	31					T	86258685	C	T	86258685	3	4	336	1	0	0	0	0	1	0	0	0	12209	884	31	2	836	2	POLR1A	2	86258685	Missense_Mutation	SNP	C	TCGA-KK-A8I8-01A-11D-A364-08		86258685	156940688	1	17020											
AGPS	8540	broad.mit.edu	37	chr2	178386036	178386036	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcaggtgcttgtatctacttCtattttgcctttaactacag	8	17	7	9	0	2	0	0	0	2	0	2	0	2	0	1	1	5	3	1	1	5	10			TCGA-KK-A8I8-01A-11D-A364-08	TCGA-KK-A8I8-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99d7021e-f0da-44fb-8f6c-5bcd2c433a0e	fe39a0c2-56d9-445c-ab4b-744d4d21f8c2	g.chr2:178386036C>T	ENST00000264167.4	+	18	1883	c.1737C>T	c.(1735-1737)ttC>ttT	p.F579F	AGPS_ENST00000409888.1_Intron	NM_003659.3	NP_003650.1	O00116	ADAS_HUMAN	alkylglycerone phosphate synthase	579					cellular lipid metabolic process (GO:0044255)|ether lipid biosynthetic process (GO:0008611)|lipid biosynthetic process (GO:0008610)|small molecule metabolic process (GO:0044281)	intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	alkylglycerone-phosphate synthase activity (GO:0008609)|FAD binding (GO:0071949)|UDP-N-acetylmuramate dehydrogenase activity (GO:0008762)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)|skin(1)	32			OV - Ovarian serous cystadenocarcinoma(117;0.0018)|Epithelial(96;0.00919)|all cancers(119;0.0358)			GTATCTACTTCTATTTTGCCT	0.388																																						ENST00000264167.4																			0				breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)|skin(1)	32						c.(1735-1737)ttC>ttT		alkylglycerone phosphate synthase							176	165	169					2																	178386036		2203	4300	6503	SO:0001819	synonymous_variant	8540				ether lipid biosynthetic process	peroxisomal matrix|peroxisomal membrane|plasma membrane	alkylglycerone-phosphate synthase activity|flavin adenine dinucleotide binding|oxidoreductase activity	g.chr2:178386036C>T	Y09443	CCDS2275.1	2q	2008-02-05			ENSG00000018510	ENSG00000018510	2.5.1.26		327	protein-coding gene	gene with protein product		603051				9187299, 9553082	Standard	NM_003659		Approved	ADHAPS, ADAS, ALDHPSY, ADPS, ADAP-S	uc002ull.2	O00116	OTTHUMG00000132530	ENST00000264167.4:c.1737C>T	2.37:g.178386036C>T						AGPS_ENST00000409888.1_Intron	p.F579F	NM_003659.3	NP_003650.1	O00116	ADAS_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0018)|Epithelial(96;0.00919)|all cancers(119;0.0358)		18	1883	+			579					A5D8U9|Q2TU35	Silent	SNP	ENST00000264167.4	37	c.1737C>T	CCDS2275.1																																																																																				0.388	AGPS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255730.2			33	75	0	0	0	1	0	33	75					T	178386036	C	T	178386036	2	4	336	1	0	0	0	0	0	0	0	1	394	912	32	3		3	AGPS	2	178386036	Silent	SNP	C	TCGA-KK-A8I8-01A-11D-A364-08	92127351	178386036	64813337	2	17021											
REST	5978	broad.mit.edu	37	chr4	57777036	57777036	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gacagatggcagaactgatgCcggttggggataacaacttt	12	9	13	7	1	0	3	0	1	0	2	0	5	0	4	1	4	4	2	1	4	3	3	rs142504829		TCGA-KK-A8I8-01A-11D-A364-08	TCGA-KK-A8I8-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99d7021e-f0da-44fb-8f6c-5bcd2c433a0e	fe39a0c2-56d9-445c-ab4b-744d4d21f8c2	g.chr4:57777036C>T	ENST00000309042.7	+	2	546	c.232C>T	c.(232-234)Ccg>Tcg	p.P78S		NM_001193508.1|NM_005612.4	NP_001180437.1|NP_005603.3	Q13127	REST_HUMAN	RE1-silencing transcription factor	78	Interaction with SIN3A.				cardiac muscle cell myoblast differentiation (GO:0060379)|cellular response to drug (GO:0035690)|cellular response to electrical stimulus (GO:0071257)|cellular response to glucocorticoid stimulus (GO:0071385)|hematopoietic progenitor cell differentiation (GO:0002244)|histone H4 deacetylation (GO:0070933)|negative regulation by host of viral transcription (GO:0043922)|negative regulation of aldosterone biosynthetic process (GO:0032348)|negative regulation of amniotic stem cell differentiation (GO:2000798)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cortisol biosynthetic process (GO:2000065)|negative regulation of dense core granule biogenesis (GO:2000706)|negative regulation of gene expression (GO:0010629)|negative regulation of insulin secretion (GO:0046676)|negative regulation of mesenchymal stem cell differentiation (GO:2000740)|negative regulation of neurogenesis (GO:0050768)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of transcription, DNA-templated (GO:0045893)|potassium ion transmembrane transport (GO:0071805)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|core promoter binding (GO:0001047)|core promoter sequence-specific DNA binding (GO:0001046)|metal ion binding (GO:0046872)|outward rectifier potassium channel activity (GO:0015271)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	50	Glioma(25;0.08)|all_neural(26;0.181)					AGAACTGATGCCGGTTGGGGA	0.448																																						ENST00000309042.7																			0				central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	50						c.(232-234)Ccg>Tcg		RE1-silencing transcription factor		C	SER/PRO,SER/PRO	0,4406		0,0,2203	91	85	87		232,232	5	1	4	dbSNP_134	87	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	REST	NM_001193508.1,NM_005612.4	74,74	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging	78/1098,78/1098	57777036	1,13005	2203	4300	6503	SO:0001583	missense	5978				cardiac muscle cell myoblast differentiation|cellular response to drug|cellular response to electrical stimulus|cellular response to glucocorticoid stimulus|histone H4 deacetylation|negative regulation by host of viral transcription|negative regulation of aldosterone biosynthetic process|negative regulation of calcium ion-dependent exocytosis|negative regulation of cell proliferation|negative regulation of cortisol biosynthetic process|negative regulation of dense core granule biogenesis|negative regulation of insulin secretion|negative regulation of mesenchymal stem cell differentiation|negative regulation of neurogenesis|negative regulation of neuron differentiation|positive regulation of apoptosis|positive regulation of caspase activity|positive regulation of transcription, DNA-dependent	cytoplasm|transcriptional repressor complex	calcium channel activity|chromatin binding|core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|outward rectifier potassium channel activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|zinc ion binding	g.chr4:57777036C>T	U13879	CCDS3509.1	4q12	2008-02-05			ENSG00000084093	ENSG00000084093			9966	protein-coding gene	gene with protein product		600571				7871435, 7697725	Standard	NM_005612		Approved	NRSF, XBR	uc003hci.3	Q13127	OTTHUMG00000128770	ENST00000309042.7:c.232C>T	4.37:g.57777036C>T	ENSP00000311816:p.Pro78Ser						p.P78S	NM_001193508.1|NM_005612.4	NP_001180437.1|NP_005603.3	Q13127	REST_HUMAN			2	546	+	Glioma(25;0.08)|all_neural(26;0.181)		78			Interaction with SIN3A.		A2RUE0|B9EGJ0|Q12956|Q12957|Q13134|Q59ER1|Q8IWI3	Missense_Mutation	SNP	ENST00000309042.7	37	c.232C>T	CCDS3509.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.271228	0.80469	0.0	1.16E-4	ENSG00000084093	ENST00000456010;ENST00000309042;ENST00000358605	T	0.08984	3.03	5.92	5.0	0.66597	.	0.092113	0.45126	D	0.000389	T	0.13841	0.0335	L	0.44542	1.39	0.43555	D	0.995862	P;D	0.59357	0.905;0.985	P;P	0.58013	0.487;0.831	T	0.06144	-1.0843	10	0.10377	T	0.69	-14.9452	11.517	0.50526	0.3669:0.633:0.0:0.0	.	78;78	Q13127-2;Q13127	.;REST_HUMAN	S	78	ENSP00000311816:P78S	ENSP00000311816:P78S	P	+	1	0	REST	57471793	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.483000	0.73617	2.809000	0.96659	0.655000	0.94253	CCG		0.448	REST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250691.2	NM_005612		3	48	0	0	0	1	0	3	48					T	57777036	C	T	57777036	3	4	336	1	0	0	0	0	1	0	0	0	13234	739	26	3	234	3	REST	4	57777036	Missense_Mutation	SNP	C	TCGA-KK-A8I8-01A-11D-A364-08		57777036	133377240	3	17022											
FAM190A	401145	broad.mit.edu	37	chr4	91229784	91229784	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agaccaggggaagacattctGttggttttagtagttcacga	11	12	12	6	1	2	2	1	0	1	2	2	4	2	3	1	3	0	4	1	3	3	6			TCGA-KK-A8I8-01A-11D-A364-08	TCGA-KK-A8I8-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99d7021e-f0da-44fb-8f6c-5bcd2c433a0e	fe39a0c2-56d9-445c-ab4b-744d4d21f8c2	g.chr4:91229784G>T	ENST00000509176.1	+	2	637	c.349G>T	c.(349-351)Gtt>Ttt	p.V117F	CCSER1_ENST00000432775.2_Missense_Mutation_p.V117F|CCSER1_ENST00000333691.8_Missense_Mutation_p.V117F	NM_001145065.1	NP_001138537.1	Q9C0I3	CCSE1_HUMAN	coiled-coil serine-rich protein 1	117																	AAGACATTCTGTTGGTTTTAG	0.363																																						ENST00000509176.1																			0											c.(349-351)Gtt>Ttt		coiled-coil serine-rich protein 1							66	62	64					4																	91229784		1836	4094	5930	SO:0001583	missense	401145							g.chr4:91229784G>T		CCDS47099.1, CCDS47100.1	4q22.1	2012-12-03	2012-12-03	2012-12-03	ENSG00000184305	ENSG00000184305			29349	protein-coding gene	gene with protein product			"family with sequence similarity 190, member A"	FAM190A		11214970	Standard	NM_001145065		Approved	KIAA1680	uc003hsv.4	Q9C0I3	OTTHUMG00000160950	ENST00000509176.1:c.349G>T	4.37:g.91229784G>T	ENSP00000425040:p.Val117Phe					CCSER1_ENST00000333691.8_Missense_Mutation_p.V117F|CCSER1_ENST00000432775.2_Missense_Mutation_p.V117F	p.V117F	NM_001145065.1	NP_001138537.1					2	637	+								Q4W5M0|Q86V57	Missense_Mutation	SNP	ENST00000509176.1	37	c.349G>T	CCDS47099.1	.	.	.	.	.	.	.	.	.	.	G	14.14	2.447247	0.43429	.	.	ENSG00000184305	ENST00000509176;ENST00000432775;ENST00000333691;ENST00000458365	T;T;T	0.46819	1.36;0.86;1.36	5.18	5.18	0.71444	.	0.203324	0.42821	D	0.000654	T	0.35799	0.0944	L	0.27053	0.805	0.34356	D	0.690387	B;B;B	0.28350	0.183;0.112;0.208	B;B;B	0.30029	0.099;0.049;0.11	T	0.46596	-0.9180	10	0.35671	T	0.21	-9.4262	12.9117	0.58182	0.0754:0.0:0.9246:0.0	.	117;117;117	Q9C0I3-2;Q9C0I3;E7EUW0	.;F190A_HUMAN;.	F	117	ENSP00000425040:V117F;ENSP00000389283:V117F;ENSP00000329482:V117F	ENSP00000329482:V117F	V	+	1	0	FAM190A	91448807	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.335000	0.59298	2.793000	0.96121	0.655000	0.94253	GTT		0.363	CCSER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363109.3	NM_001145065		3	46	1	0	1	1	1	3	46					T	91229784	G	T	91229784	3	4	336	1	0	0	0	0	1	0	0	0	5521	1377	48	5	351	5	FAM190A	4	91229784	Missense_Mutation	SNP	G	TCGA-KK-A8I8-01A-11D-A364-08	33452748	91229784	99924492	4	17023											
LEF1	51176	broad.mit.edu	37	chr4	109000748	109000748	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtgtggggaccaggaggacCgggaatcatatgatgggaaa	12	7	17	5	1	1	1	1	1	0	0	1	6	1	6	2	6	0	0	2	6	3	1	rs146861754		TCGA-KK-A8I8-01A-11D-A364-08	TCGA-KK-A8I8-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99d7021e-f0da-44fb-8f6c-5bcd2c433a0e	fe39a0c2-56d9-445c-ab4b-744d4d21f8c2	g.chr4:109000748C>T	ENST00000265165.1	-	7	1399	c.745G>A	c.(745-747)Ggt>Agt	p.G249S	LEF1_ENST00000510624.1_Missense_Mutation_p.G153S|LEF1_ENST00000438313.2_Missense_Mutation_p.G221S|LEF1_ENST00000503879.1_5'Flank|LEF1_ENST00000379951.2_Missense_Mutation_p.G221S	NM_016269.4	NP_057353.1	Q9UJU2	LEF1_HUMAN	lymphoid enhancer-binding factor 1	249	Pro-rich.				alpha-beta T cell differentiation (GO:0046632)|anatomical structure regression (GO:0060033)|apoptotic process involved in morphogenesis (GO:0060561)|apoptotic process involved in patterning of blood vessels (GO:1902262)|B cell proliferation (GO:0042100)|BMP signaling pathway (GO:0030509)|canonical Wnt signaling pathway (GO:0060070)|cell chemotaxis (GO:0060326)|cellular response to cytokine stimulus (GO:0071345)|cellular response to interleukin-4 (GO:0071353)|chorio-allantoic fusion (GO:0060710)|dentate gyrus development (GO:0021542)|embryonic limb morphogenesis (GO:0030326)|epithelial to mesenchymal transition (GO:0001837)|eye pigmentation (GO:0048069)|face morphogenesis (GO:0060325)|forebrain neuroblast division (GO:0021873)|forebrain neuron differentiation (GO:0021879)|forebrain radial glial cell differentiation (GO:0021861)|formation of radial glial scaffolds (GO:0021943)|histone H3 acetylation (GO:0043966)|histone H4 acetylation (GO:0043967)|hypothalamus development (GO:0021854)|mammary gland development (GO:0030879)|muscle fiber development (GO:0048747)|negative regulation of apoptotic process (GO:0043066)|negative regulation of apoptotic process in bone marrow (GO:0071866)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of DNA binding (GO:0043392)|negative regulation of estrogen receptor binding (GO:0071899)|negative regulation of interleukin-13 production (GO:0032696)|negative regulation of interleukin-4 production (GO:0032713)|negative regulation of interleukin-5 production (GO:0032714)|negative regulation of striated muscle tissue development (GO:0045843)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural crest cell migration (GO:0001755)|neutrophil differentiation (GO:0030223)|odontoblast differentiation (GO:0071895)|odontogenesis of dentin-containing tooth (GO:0042475)|osteoblast differentiation (GO:0001649)|palate development (GO:0060021)|paraxial mesoderm formation (GO:0048341)|patterning of blood vessels (GO:0001569)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of cell cycle process (GO:0090068)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell proliferation in bone marrow (GO:0071864)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of gene expression (GO:0010628)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell-cell adhesion (GO:0022407)|regulation of striated muscle tissue development (GO:0016202)|sensory perception of taste (GO:0050909)|somitogenesis (GO:0001756)|sprouting angiogenesis (GO:0002040)|steroid hormone mediated signaling pathway (GO:0043401)|T cell receptor V(D)J recombination (GO:0033153)|T-helper 1 cell differentiation (GO:0045063)|tongue development (GO:0043586)|trachea gland development (GO:0061153)|transcription from RNA polymerase II promoter (GO:0006366)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein-DNA complex (GO:0032993)|transcription factor complex (GO:0005667)	armadillo repeat domain binding (GO:0070016)|beta-catenin binding (GO:0008013)|C2H2 zinc finger domain binding (GO:0070742)|chromatin binding (GO:0003682)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|DNA binding (GO:0003677)|DNA binding, bending (GO:0008301)|enhancer binding (GO:0035326)|estrogen receptor activity (GO:0030284)|estrogen receptor binding (GO:0030331)|gamma-catenin binding (GO:0045295)|histone binding (GO:0042393)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)	p.G249S(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(14)|prostate(1)|urinary_tract(1)	25				OV - Ovarian serous cystadenocarcinoma(123;0.000224)		CCAGGAGGACCGGGAATCATA	0.468																																						ENST00000379951.2																			1	Substitution - Missense(1)	p.G249S(1)	large_intestine(1)	endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(14)|prostate(1)|urinary_tract(1)	25						c.(661-663)Ggt>Agt		lymphoid enhancer-binding factor 1		C	SER/GLY,SER/GLY,SER/GLY,SER/GLY	1,4405	2.1+/-5.4	0,1,2202	208	179	189		661,661,457,745	5.8	1	4	dbSNP_134	189	0,8600		0,0,4300	no	missense,missense,missense,missense	LEF1	NM_001130713.2,NM_001130714.2,NM_001166119.1,NM_016269.4	56,56,56,56	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging	221/372,221/387,153/304,249/400	109000748	1,13005	2203	4300	6503	SO:0001583	missense	51176				canonical Wnt receptor signaling pathway|cell chemotaxis|cellular response to interleukin-4|epithelial to mesenchymal transition|histone H3 acetylation|histone H4 acetylation|negative regulation of apoptosis in bone marrow|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell-cell adhesion|negative regulation of DNA binding|negative regulation of estrogen receptor binding|negative regulation of interleukin-13 production|negative regulation of interleukin-4 production|negative regulation of interleukin-5 production|negative regulation of transcription, DNA-dependent|neutrophil differentiation|osteoblast differentiation|palate development|positive regulation by host of viral transcription|positive regulation of cell cycle process|positive regulation of cell growth|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of cell proliferation in bone marrow|positive regulation of cell-cell adhesion|positive regulation of epithelial to mesenchymal transition|positive regulation of granulocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|T-helper 1 cell differentiation	cytoplasm|protein-DNA complex|transcription factor complex	armadillo repeat domain binding|beta-catenin binding|C2H2 zinc finger domain binding|caspase inhibitor activity|DNA bending activity|enhancer binding|estrogen receptor activity|estrogen receptor binding|gamma-catenin binding|histone binding|sequence-specific DNA binding|transcription regulatory region DNA binding	g.chr4:109000748C>T		CCDS3679.1, CCDS47122.1, CCDS47123.1, CCDS54791.1	4q23-q25	2011-07-08			ENSG00000138795	ENSG00000138795			6551	protein-coding gene	gene with protein product		153245				1783375	Standard	NM_016269		Approved	TCF1ALPHA, TCF10, TCF7L3	uc003hyt.2	Q9UJU2	OTTHUMG00000131809	ENST00000265165.1:c.745G>A	4.37:g.109000748C>T	ENSP00000265165:p.Gly249Ser					LEF1_ENST00000438313.2_Missense_Mutation_p.G221S|LEF1_ENST00000510624.1_Missense_Mutation_p.G153S|LEF1_ENST00000265165.1_Missense_Mutation_p.G249S	p.G221S	NM_001130713.2|NM_001130714.2	NP_001124185.1|NP_001124186.1	Q9UJU2	LEF1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000224)	6	1849	-			249			Pro-rich.		B4DG38|B7Z8E2|E9PDK3|Q3ZCU4|Q9HAZ0	Missense_Mutation	SNP	ENST00000265165.1	37	c.661G>A	CCDS3679.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.275864	0.80580	2.27E-4	0.0	ENSG00000138795	ENST00000265165;ENST00000379951;ENST00000438313;ENST00000510624	D;D;D;D	0.99194	-5.38;-5.46;-5.48;-5.54	5.85	5.85	0.93711	.	0.000000	0.85682	D	0.000000	D	0.97726	0.9254	N	0.05306	-0.075	0.80722	D	1	D;D;D;P;B	0.89917	1.0;1.0;1.0;0.758;0.238	D;D;D;B;B	0.91635	0.987;0.991;0.999;0.249;0.079	D	0.94608	0.7802	10	0.06099	T	0.92	0.2914	20.1731	0.98165	0.0:1.0:0.0:0.0	.	153;106;221;221;249	E9PDK3;B4DZY5;Q9UJU2-6;Q9UJU2-5;Q9UJU2	.;.;.;.;LEF1_HUMAN	S	249;221;221;153	ENSP00000265165:G249S;ENSP00000369284:G221S;ENSP00000406176:G221S;ENSP00000422840:G153S	ENSP00000265165:G249S	G	-	1	0	LEF1	109220197	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.817000	0.62650	2.768000	0.95171	0.655000	0.94253	GGT		0.468	LEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254749.2			3	44	0	0	0	1	0	3	44					T	109000748	C	T	109000748	3	4	336	1	0	0	0	0	1	0	0	0	8714	652	23	2	558	2	LEF1	4	109000748	Missense_Mutation	SNP	C	TCGA-KK-A8I8-01A-11D-A364-08	17770964	109000748	82153528	5	17024											
FHDC1	85462	broad.mit.edu	37	chr4	153897503	153897503	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaagaagagcccaagaccccGtcagtgcccagcgtccccca	12	3	9	17	2	1	3	1	0	0	3	2	3	2	3	6	0	3	0	6	0	3	0			TCGA-KK-A8I8-01A-11D-A364-08	TCGA-KK-A8I8-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99d7021e-f0da-44fb-8f6c-5bcd2c433a0e	fe39a0c2-56d9-445c-ab4b-744d4d21f8c2	g.chr4:153897503G>A	ENST00000511601.1	+	12	3248	c.3060G>A	c.(3058-3060)ccG>ccA	p.P1020P	FHDC1_ENST00000260008.3_Silent_p.P1020P			Q9C0D6	FHDC1_HUMAN	FH2 domain containing 1	1020									ARFIP1/FHDC1(2)	NS(2)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	43	all_hematologic(180;0.093)					CCAAGACCCCGTCAGTGCCCA	0.612																																						ENST00000511601.1																		ARFIP1/FHDC1(2)	0				NS(2)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	43						c.(3058-3060)ccG>ccA		FH2 domain containing 1							61	71	68					4																	153897503		2203	4300	6503	SO:0001819	synonymous_variant	85462				actin cytoskeleton organization		actin binding	g.chr4:153897503G>A	AB051514	CCDS34081.1	4q31.3	2014-02-12	2007-11-29		ENSG00000137460	ENSG00000137460			29363	protein-coding gene	gene with protein product						15138637	Standard	NM_033393		Approved	KIAA1727	uc003inf.2	Q9C0D6	OTTHUMG00000161452	ENST00000511601.1:c.3060G>A	4.37:g.153897503G>A						FHDC1_ENST00000260008.3_Silent_p.P1020P	p.P1020P			Q9C0D6	FHDC1_HUMAN			12	3248	+	all_hematologic(180;0.093)		1020						Silent	SNP	ENST00000511601.1	37	c.3060G>A	CCDS34081.1																																																																																				0.612	FHDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364981.2	NM_033393		5	54	0	0	0	1	0	5	54					A	153897503	G	A	153897503	2	1	336	1	0	0	0	0	0	0	0	1	5876	1132	40	1		1	FHDC1	4	153897503	Silent	SNP	G	TCGA-KK-A8I8-01A-11D-A364-08	44896755	153897503	37256773	6	17025											
PCDHA12	56137	broad.mit.edu	37	chr5	140257309	140257309	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cgtggggagttggtcttactCgcagcagaggaggcagaggg	8	7	19	7	2	1	2	0	0	1	2	2	4	1	4	0	6	2	4	0	6	1	2			TCGA-KK-A8I8-01A-11D-A364-08	TCGA-KK-A8I8-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99d7021e-f0da-44fb-8f6c-5bcd2c433a0e	fe39a0c2-56d9-445c-ab4b-744d4d21f8c2	g.chr5:140257309C>T	ENST00000398631.2	+	1	2252	c.2252C>T	c.(2251-2253)tCg>tTg	p.S751L	PCDHA7_ENST00000525929.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000504120.2_Intron	NM_018903.2|NM_031864.2	NP_061726.1|NP_114070.1	Q9UN75	PCDAC_HUMAN	protocadherin alpha 12	751	5 X 4 AA repeats of P-X-X-P.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(4)|breast(2)|cervix(1)|endometrium(19)|kidney(8)|large_intestine(8)|liver(2)|lung(25)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGTCTTACTCGCAGCAGAGG	0.647																																					Pancreas(113;759 1672 13322 24104 50104)	ENST00000398631.2																			0				NS(4)|breast(2)|cervix(1)|endometrium(19)|kidney(8)|large_intestine(8)|liver(2)|lung(25)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	78						c.(2251-2253)tCg>tTg									32	33	32					5																	140257309		2203	4300	6503	SO:0001583	missense	0							g.chr5:140257309C>T	AF152477	CCDS47285.1, CCDS75327.1	5q31	2010-11-26			ENSG00000251664	ENSG00000251664		"Cadherins / Protocadherins : Clustered"	8666	other	complex locus constituent	"KIAA0345-like 2"	606318				10380929	Standard	NM_018903		Approved	PCDH-ALPHA12	uc003lic.2	Q9UN75	OTTHUMG00000163366	ENST00000398631.2:c.2252C>T	5.37:g.140257309C>T	ENSP00000381628:p.Ser751Leu					PCDHA7_ENST00000525929.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron	p.S751L	NM_018903.2|NM_031864.1	NP_061726.1|NP_114070.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2252	+								O75278|Q2M1N8	Missense_Mutation	SNP	ENST00000398631.2	37	c.2252C>T	CCDS47285.1	.	.	.	.	.	.	.	.	.	.	C	14.13	2.443798	0.43429	.	.	ENSG00000251664	ENST00000398631	T	0.20463	2.07	4.88	4.0	0.46444	.	.	.	.	.	T	0.55081	0.1898	H	0.96015	3.755	0.23528	N	0.997489	D;D	0.71674	0.998;0.99	D;B	0.70716	0.97;0.426	T	0.54111	-0.8342	9	0.33141	T	0.24	.	9.8526	0.41066	0.0:0.7791:0.1418:0.0791	.	751;751	Q9UN75-2;Q9UN75	.;PCDAC_HUMAN	L	751	ENSP00000381628:S751L	ENSP00000381628:S751L	S	+	2	0	PCDHA12	140237493	0.001000	0.12720	0.005000	0.12908	0.076000	0.17211	0.181000	0.16880	1.017000	0.39495	0.655000	0.94253	TCG		0.647	PCDHA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372882.2	NM_018903		17	24	0	0	0	1	0	17	24					T	140257309	C	T	140257309	3	4	336	1	0	0	0	0	1	0	0	0	11522	893	31	2	2254	2	PCDHA12	5	140257309	Missense_Mutation	SNP	C	TCGA-KK-A8I8-01A-11D-A364-08		140257309	40657951	7	17026											
SAMD9	54809	broad.mit.edu	37	chr7	92735120	92735120	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttttgagacacagtttggtcTttaggagcatttttactggg	8	17	11	5	0	1	1	0	1	1	1	1	3	1	2	0	3	2	2	0	3	2	8			TCGA-KK-A8I8-01A-11D-A364-08	TCGA-KK-A8I8-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99d7021e-f0da-44fb-8f6c-5bcd2c433a0e	fe39a0c2-56d9-445c-ab4b-744d4d21f8c2	g.chr7:92735120T>C	ENST00000379958.2	-	3	560	c.291A>G	c.(289-291)aaA>aaG	p.K97K		NM_001193307.1|NM_017654.3	NP_001180236.1|NP_060124.2	Q5K651	SAMD9_HUMAN	sterile alpha motif domain containing 9	97						cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)				NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)			CAGTTTGGTCTTTAGGAGCAT	0.378																																						ENST00000379958.2																			0				NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						c.(289-291)aaA>aaG		sterile alpha motif domain containing 9							177	174	175					7																	92735120		2203	4300	6503	SO:0001819	synonymous_variant	54809					cytoplasm		g.chr7:92735120T>C	AB095925	CCDS34680.1	7q21.2	2013-01-10	2004-07-15	2004-07-16	ENSG00000205413	ENSG00000205413		"Sterile alpha motif (SAM) domain containing"	1348	protein-coding gene	gene with protein product		610456	"chromosome 7 open reading frame 5"	C7orf5			Standard	NM_017654		Approved	KIAA2004, FLJ20073	uc003umg.3	Q5K651	OTTHUMG00000155809	ENST00000379958.2:c.291A>G	7.37:g.92735120T>C							p.K97K	NM_001193307.1|NM_017654.3	NP_001180236.1|NP_060124.2	Q5K651	SAMD9_HUMAN	STAD - Stomach adenocarcinoma(171;0.000302)		3	560	-	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		97					A2RU68|Q5K649|Q6P080|Q75N21|Q8IVG6|Q9NXS8	Silent	SNP	ENST00000379958.2	37	c.291A>G	CCDS34680.1																																																																																				0.378	SAMD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341761.1	NM_017654		68	166	0	0	0	1	0	68	166					C	92735120	T	C	92735120	2	2	336	1	0	0	0	0	0	0	0	1	13826	1606	56	4		4	SAMD9	7	92735120	Silent	SNP	T	TCGA-KK-A8I8-01A-11D-A364-08		92735120	66403543	8	17027											
POTEA	340441	broad.mit.edu	37	chr8	43157186	43157186	+	RNA	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttctacttcagcaaaatattGatgtattttctcaagatgta	13	17	5	6	0	3	2	2	1	2	1	4	2	3	2	0	0	2	3	0	0	7	9			TCGA-KK-A8I8-01A-11D-A364-08	TCGA-KK-A8I8-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99d7021e-f0da-44fb-8f6c-5bcd2c433a0e	fe39a0c2-56d9-445c-ab4b-744d4d21f8c2	g.chr8:43157186G>A	ENST00000522175.2	+	0	697				RNU6-104P_ENST00000459597.1_RNA			Q6S8J7	POTEA_HUMAN	POTE ankyrin domain family, member A											breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(27)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						GCAAAATATTGATGTATTTTC	0.318																																						ENST00000522175.2																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(27)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46								POTE ankyrin domain family, member A							97	105	102					8																	43157186		2108	4255	6363			340441							g.chr8:43157186G>A	AY462869		8p11.1	2013-01-11	2008-11-26	2008-11-26	ENSG00000188877	ENSG00000188877		"POTE ankyrin domain containing", "Ankyrin repeat domain containing"	33893	protein-coding gene	gene with protein product	"cancer/testis antigen family 104, member 3"	608915	"ANKRD26-like family A, member 1"	A26A1			Standard	NM_001002920		Approved	POTE8, POTE-8, CT104.3	uc003xpz.1	Q6S8J7	OTTHUMG00000164111		8.37:g.43157186G>A										Q6S8J7	POTEA_HUMAN			0	697	+								A6ND17|A6ND71|Q6S8J6	RNA	SNP	ENST00000522175.2	37																																																																																						0.318	POTEA-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000383492.1	NM_001002920		52	180	0	0	0	1	0	52	180					A	43157186	G	A	43157186	1	1	336	0	1	0	0	0	0	0	0	0	12261	1290	45	3		3	POTEA	8	43157186	RNA	SNP	G	TCGA-KK-A8I8-01A-11D-A364-08		43157186	103206836	9	17028											
PNPLA7	375775	broad.mit.edu	37	chr9	140392628	140392628	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcaaagtcgatttgccgcacGaaggacgacatcctcttcac	11	8	9	13	4	2	0	1	0	1	0	4	4	3	1	2	1	1	2	2	1	2	2	rs367620575		TCGA-KK-A8I8-01A-11D-A364-08	TCGA-KK-A8I8-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99d7021e-f0da-44fb-8f6c-5bcd2c433a0e	fe39a0c2-56d9-445c-ab4b-744d4d21f8c2	g.chr9:140392628G>A	ENST00000277531.4	-	16	1938	c.1752C>T	c.(1750-1752)ttC>ttT	p.F584F	PNPLA7_ENST00000406427.1_Silent_p.F609F|PNPLA7_ENST00000371457.1_Silent_p.F190F	NM_152286.3	NP_689499.3	Q6ZV29	PLPL7_HUMAN	patatin-like phospholipase domain containing 7	584					lipid metabolic process (GO:0006629)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	lysophospholipase activity (GO:0004622)			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_cancers(76;0.126)			OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839)		TTTGCCGCACGAAGGACGACA	0.632																																						ENST00000406427.1																			0				breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						c.(1825-1827)ttC>ttT		patatin-like phospholipase domain containing 7		G	,	1,4401	2.1+/-5.4	0,1,2200	157	118	131		1827,1752	-1.8	1	9		131	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	PNPLA7	NM_001098537.1,NM_152286.3	,	0,1,6500	AA,AG,GG		0.0,0.0227,0.0077	,	609/1343,584/1318	140392628	1,13001	2201	4300	6501	SO:0001819	synonymous_variant	375775				lipid metabolic process	endoplasmic reticulum|integral to membrane|lysosomal membrane|microsome|mitochondrial membrane|nuclear membrane	hydrolase activity	g.chr9:140392628G>A	AK126267	CCDS7045.1, CCDS48070.1	9q34.3	2009-01-12	2006-06-12	2006-06-12	ENSG00000130653	ENSG00000130653		"Patatin-like phospholipase domain containing"	24768	protein-coding gene	gene with protein product		612122	"chromosome 9 open reading frame 111"	C9orf111		16799181, 12640454, 19029121	Standard	XM_005266082		Approved	FLJ43070, FLJ31318, FLJ44279, RP11-48C7.2, NTEL1, NTE-R1	uc010ncj.1	Q6ZV29	OTTHUMG00000020990	ENST00000277531.4:c.1752C>T	9.37:g.140392628G>A						PNPLA7_ENST00000277531.4_Silent_p.F584F|PNPLA7_ENST00000371457.1_Silent_p.F190F	p.F609F	NM_001098537.1	NP_001092007.1	Q6ZV29	PLPL7_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839)	17	2163	-	all_cancers(76;0.126)		584					B5MDD3|Q5T364|Q658X0|Q658Y3|Q6ZTS1|Q86YU8|Q8TAY5|Q96N75|Q9H7N5	Silent	SNP	ENST00000277531.4	37	c.1827C>T	CCDS7045.1																																																																																				0.632	PNPLA7-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254787.1	NM_152286		10	32	0	0	0	1	0	10	32					A	140392628	G	A	140392628	2	1	336	1	0	0	0	0	0	0	0	1	12170	1049	37	2		2	PNPLA7	9	140392628	Silent	SNP	G	TCGA-KK-A8I8-01A-11D-A364-08		140392628	820803	10	17029											
CDH23	64072	broad.mit.edu	37	chr10	73437354	73437354	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgggtcaggatcaatgtgttGgatgtcaacgacaacgtgcc	10	9	13	9	3	3	0	3	0	0	0	3	3	3	2	1	3	3	1	1	3	3	1			TCGA-KK-A8I8-01A-11D-A364-08	TCGA-KK-A8I8-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99d7021e-f0da-44fb-8f6c-5bcd2c433a0e	fe39a0c2-56d9-445c-ab4b-744d4d21f8c2	g.chr10:73437354G>T	ENST00000224721.6	+	15	1676	c.1671G>T	c.(1669-1671)ttG>ttT	p.L557F	CDH23_ENST00000299366.7_Missense_Mutation_p.L597F	NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	552	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium ion transport (GO:0006816)|calcium-dependent cell-cell adhesion (GO:0016339)|cytosolic calcium ion homeostasis (GO:0051480)|equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						TCAATGTGTTGGATGTCAACG	0.617																																						ENST00000224721.6																			0				NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						c.(1669-1671)ttG>ttT		cadherin-related 23							40	44	43					10																	73437354		2131	4240	6371	SO:0001583	missense	64072				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding	g.chr10:73437354G>T	AY010111	CCDS53540.1, CCDS73146.1	10q22.1	2014-08-08	2010-01-25		ENSG00000107736	ENSG00000107736		"Cadherins / Cadherin-related"	13733	protein-coding gene	gene with protein product	"cadherin-related family member 23"	605516	"cadherin related 23", "cadherin-like 23"	DFNB12, USH1D		11090341	Standard	NM_022124		Approved	CDHR23	uc001jrx.4	Q9H251	OTTHUMG00000019347	ENST00000224721.6:c.1671G>T	10.37:g.73437354G>T	ENSP00000224721:p.Leu557Phe					CDH23_ENST00000299366.7_Missense_Mutation_p.L597F	p.L557F	NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN			15	1676	+			552			Cadherin 5.		C4IXS9|F6U049|Q5QGS1|Q5QGS2|Q5QGS5|Q5QGS6|Q5XKN2|Q6UWW1|Q96JL3|Q9H4K9	Missense_Mutation	SNP	ENST00000224721.6	37	c.1671G>T		.	.	.	.	.	.	.	.	.	.	G	17.72	3.458569	0.63401	.	.	ENSG00000107736	ENST00000398860;ENST00000398855;ENST00000398828;ENST00000299366;ENST00000224721;ENST00000442677	.	.	.	5.49	0.472	0.16758	Cadherin (4);Cadherin conserved site (1);Cadherin-like (1);	0.000000	0.53938	D	0.000053	T	0.61714	0.2369	L	0.46614	1.455	0.80722	D	1	D;D;P	0.56746	0.963;0.977;0.727	D;P;P	0.65573	0.936;0.79;0.489	T	0.57136	-0.7863	9	0.52906	T	0.07	.	6.9766	0.24679	0.3163:0.1088:0.5749:0.0	.	552;555;552	Q6P152;G3XCN8;Q9H251	.;.;CAD23_HUMAN	F	557;552;552;555;555;69	.	ENSP00000224721:L557F	L	+	3	2	CDH23	73107360	1.000000	0.71417	0.898000	0.35279	0.690000	0.40134	0.547000	0.23299	-0.156000	0.11079	-0.266000	0.10368	TTG		0.617	CDH23-001	PUTATIVE	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000051227.4	NM_052836		9	7	1	0	2.17888e-05	1	2.33831e-05	9	7					T	73437354	G	T	73437354	3	4	336	1	0	0	0	0	1	0	0	0	3108	1339	47	5	1941	5	CDH23	10	73437354	Missense_Mutation	SNP	G	TCGA-KK-A8I8-01A-11D-A364-08		73437354	62097393	11	17030											
OR4A47	403253	broad.mit.edu	37	chr11	48510647	48510647	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgcatggcccagctctttatCgagcacattttcggtgggtc	6	13	11	11	2	1	0	0	0	1	0	4	1	1	0	1	3	3	3	1	3	1	4	rs201991606		TCGA-KK-A8I8-01A-11D-A364-08	TCGA-KK-A8I8-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99d7021e-f0da-44fb-8f6c-5bcd2c433a0e	fe39a0c2-56d9-445c-ab4b-744d4d21f8c2	g.chr11:48510647C>T	ENST00000446524.1	+	1	379	c.303C>T	c.(301-303)atC>atT	p.I101I		NM_001005512.2	NP_001005512.2	Q6IF82	O4A47_HUMAN	olfactory receptor, family 4, subfamily A, member 47	101						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(18)|ovary(1)|skin(1)|urinary_tract(2)	29						AGCTCTTTATCGAGCACATTT	0.428													C|||	1	0.000199681	8e-04	0	5008	,	,		20992	0		0	False		,,,				2504	0					ENST00000446524.1																			0				NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(18)|ovary(1)|skin(1)|urinary_tract(2)	29						c.(301-303)atC>atT		olfactory receptor, family 4, subfamily A, member 47							102	97	99					11																	48510647		2201	4298	6499	SO:0001819	synonymous_variant	403253				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:48510647C>T	BK004380	CCDS31490.1	11p11.2	2012-08-09			ENSG00000237388	ENSG00000237388		"GPCR / Class A : Olfactory receptors"	31266	protein-coding gene	gene with protein product							Standard	NM_001005512		Approved		uc010rhx.2	Q6IF82	OTTHUMG00000166581	ENST00000446524.1:c.303C>T	11.37:g.48510647C>T							p.I101I	NM_001005512.2	NP_001005512.2	Q6IF82	O4A47_HUMAN			1	379	+			101						Silent	SNP	ENST00000446524.1	37	c.303C>T	CCDS31490.1																																																																																				0.428	OR4A47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390559.1	NM_001005512		46	65	0	0	0	1	0	46	65					T	48510647	C	T	48510647	2	4	336	1	0	0	0	0	0	0	0	1	11042	874	31	2		2	OR4A47	11	48510647	Silent	SNP	C	TCGA-KK-A8I8-01A-11D-A364-08		48510647	86495869	12	17031											
TIGD3	220359	broad.mit.edu	37	chr11	65123573	65123573	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gccaaggcctgggacgtgacGgggcccatgctgctccacaa	8	5	14	14	2	0	1	0	1	0	0	1	2	1	2	4	4	2	2	4	4	2	0			TCGA-KK-A8I8-01A-11D-A364-08	TCGA-KK-A8I8-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99d7021e-f0da-44fb-8f6c-5bcd2c433a0e	fe39a0c2-56d9-445c-ab4b-744d4d21f8c2	g.chr11:65123573G>A	ENST00000309880.5	+	2	501	c.294G>A	c.(292-294)acG>acA	p.T98T		NM_145719.2	NP_663771.1	Q6B0B8	TIGD3_HUMAN	tigger transposable element derived 3	98	HTH CENPB-type. {ECO:0000255|PROSITE- ProRule:PRU00583}.					nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(3)|large_intestine(1)|lung(9)|prostate(2)|skin(2)	17						GGGACGTGACGGGGCCCATGC	0.642																																						ENST00000309880.5																			0				endometrium(3)|large_intestine(1)|lung(9)|prostate(2)|skin(2)	17						c.(292-294)acG>acA		tigger transposable element derived 3							59	63	62					11																	65123573		2201	4297	6498	SO:0001819	synonymous_variant	220359				regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	DNA binding	g.chr11:65123573G>A		CCDS8101.1	11q13.1	2008-07-21				ENSG00000173825			18334	protein-coding gene	gene with protein product							Standard	NM_145719		Approved		uc001odo.4	Q6B0B8		ENST00000309880.5:c.294G>A	11.37:g.65123573G>A							p.T98T	NM_145719.2	NP_663771.1	Q6B0B8	TIGD3_HUMAN			2	501	+			98			HTH CENPB-type.			Silent	SNP	ENST00000309880.5	37	c.294G>A	CCDS8101.1																																																																																				0.642	TIGD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387310.1	NM_145719		25	39	0	0	0	1	0	25	39					A	65123573	G	A	65123573	2	1	336	1	0	0	0	0	0	0	0	1	15894	1103	39	2		2	TIGD3	11	65123573	Silent	SNP	G	TCGA-KK-A8I8-01A-11D-A364-08	16612926	65123573	69882943	13	17032											
KRT85	3891	broad.mit.edu	37	chr12	52761081	52761081	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggacacccctcggtagggggCggcgctgatgcagcagcggt	6	5	18	12	4	0	1	0	1	0	0	1	2	0	2	2	6	3	4	2	6	1	1			TCGA-KK-A8I8-01A-11D-A364-08	TCGA-KK-A8I8-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99d7021e-f0da-44fb-8f6c-5bcd2c433a0e	fe39a0c2-56d9-445c-ab4b-744d4d21f8c2	g.chr12:52761081C>T	ENST00000257901.3	-	1	184	c.109G>A	c.(109-111)Gcc>Acc	p.A37T	KRT85_ENST00000544265.1_5'Flank	NM_002283.3	NP_002274.1	P78386	KRT85_HUMAN	keratin 85	37	Head.				epidermis development (GO:0008544)	extracellular space (GO:0005615)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(7)|liver(1)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	36	Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088)			BRCA - Breast invasive adenocarcinoma(357;0.189)		CGGTAGGGGGCGGCGCTGATG	0.672																																						ENST00000257901.3																			0				NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(7)|liver(1)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	36						c.(109-111)Gcc>Acc		keratin 85							22	25	24					12																	52761081		2203	4300	6503	SO:0001583	missense	3891				epidermis development	keratin filament	protein binding|structural molecule activity	g.chr12:52761081C>T	X99140	CCDS8824.1, CCDS73472.1	12q13.13	2013-06-20	2006-07-17	2006-07-17	ENSG00000135443	ENSG00000135443		"-", "Intermediate filaments type II, keratins (basic)"	6462	protein-coding gene	gene with protein product	"hard keratin type II"	602767	"keratin, hair, basic, 5"	KRTHB5		9084137, 16831889	Standard	NM_002283		Approved	Hb-5	uc001sag.3	P78386	OTTHUMG00000169633	ENST00000257901.3:c.109G>A	12.37:g.52761081C>T	ENSP00000257901:p.Ala37Thr						p.A37T	NM_002283.3	NP_002274.1	P78386	KRT85_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.189)	1	184	-	Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088)		37			Head.		Q9NSB1	Missense_Mutation	SNP	ENST00000257901.3	37	c.109G>A	CCDS8824.1	.	.	.	.	.	.	.	.	.	.	C	11.08	1.532821	0.27387	.	.	ENSG00000135443	ENST00000257901	D	0.81739	-1.53	4.74	2.92	0.33932	.	0.112267	0.40469	N	0.001099	T	0.69387	0.3105	L	0.43701	1.375	0.09310	N	0.999994	B	0.12630	0.006	B	0.09377	0.004	T	0.55289	-0.8164	10	0.30078	T	0.28	.	7.2335	0.26057	0.0:0.6659:0.1331:0.201	.	37	P78386	KRT85_HUMAN	T	37	ENSP00000257901:A37T	ENSP00000257901:A37T	A	-	1	0	KRT85	51047348	0.010000	0.17322	0.591000	0.28745	0.695000	0.40330	0.307000	0.19296	0.721000	0.32231	-0.264000	0.10439	GCC		0.672	KRT85-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405184.1	NM_002283		3	24	0	0	0	1	0	3	24					T	52761081	C	T	52761081	3	4	336	1	0	0	0	0	1	0	0	0	8499	768	27	1	1450	1	KRT85	12	52761081	Missense_Mutation	SNP	C	TCGA-KK-A8I8-01A-11D-A364-08		52761081	81090814	14	17033											
ANKRD52	283373	broad.mit.edu	37	chr12	56646642	56646642	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caaacccagctgaaagcacaTgctcattgctgagtgaagac	14	7	9	11	0	1	4	1	3	0	1	1	4	1	4	1	0	5	4	1	0	3	1			TCGA-KK-A8I8-01A-11D-A364-08	TCGA-KK-A8I8-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99d7021e-f0da-44fb-8f6c-5bcd2c433a0e	fe39a0c2-56d9-445c-ab4b-744d4d21f8c2	g.chr12:56646642T>C	ENST00000267116.7	-	12	1344	c.1223A>G	c.(1222-1224)cAt>cGt	p.H408R		NM_173595.3	NP_775866.2	Q8NB46	ANR52_HUMAN	ankyrin repeat domain 52	408										endometrium(9)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)|skin(1)	29						TGAAAGCACATGCTCATTGCT	0.522																																						ENST00000267116.7																			0				endometrium(9)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)|skin(1)	29						c.(1222-1224)cAt>cGt		ankyrin repeat domain 52							57	58	58					12																	56646642		2100	4241	6341	SO:0001583	missense	283373						protein binding	g.chr12:56646642T>C	AK091555	CCDS44920.1	12q13.3	2013-01-10			ENSG00000139645	ENSG00000139645		"Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits", "Ankyrin repeat domain containing"	26614	protein-coding gene	gene with protein product	"protein phosphatase 6 ankyrin repeat subunit C"						Standard	NM_173595		Approved	FLJ34236, PP6-ARS-C	uc001skm.4	Q8NB46	OTTHUMG00000170329	ENST00000267116.7:c.1223A>G	12.37:g.56646642T>C	ENSP00000267116:p.His408Arg						p.H408R	NM_173595.3	NP_775866.2	Q8NB46	ANR52_HUMAN			12	1344	-			408					A6NE79|B1Q2K2	Missense_Mutation	SNP	ENST00000267116.7	37	c.1223A>G	CCDS44920.1	.	.	.	.	.	.	.	.	.	.	T	16.69	3.193416	0.58017	.	.	ENSG00000139645	ENST00000267116;ENST00000417002	T	0.51817	0.69	4.28	4.28	0.50868	Ankyrin repeat-containing domain (3);	0.000000	0.85682	D	0.000000	T	0.33469	0.0864	N	0.22421	0.69	0.80722	D	1	B	0.20780	0.048	B	0.13407	0.009	T	0.13522	-1.0506	10	0.39692	T	0.17	.	12.8717	0.57968	0.0:0.0:0.0:1.0	.	408	Q8NB46	ANR52_HUMAN	R	408	ENSP00000267116:H408R	ENSP00000267116:H408R	H	-	2	0	ANKRD52	54932909	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	7.791000	0.85805	1.944000	0.56390	0.533000	0.62120	CAT		0.522	ANKRD52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408539.1	NM_173595		13	19	0	0	0	1	0	13	19					C	56646642	T	C	56646642	3	2	336	1	0	0	0	0	1	0	0	0	678	1464	51	4	2075	4	ANKRD52	12	56646642	Missense_Mutation	SNP	T	TCGA-KK-A8I8-01A-11D-A364-08	3885561	56646642	77205253	15	17034											
GJB2	2706	broad.mit.edu	37	chr13	20763342	20763342	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccacagggagccttcgatgcGgaccttctgggttttgatct	6	12	12	11	2	2	1	0	1	2	0	3	4	2	3	3	3	2	1	3	3	0	4			TCGA-KK-A8I8-01A-11D-A364-08	TCGA-KK-A8I8-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99d7021e-f0da-44fb-8f6c-5bcd2c433a0e	fe39a0c2-56d9-445c-ab4b-744d4d21f8c2	g.chr13:20763342G>A	ENST00000382844.1	-	1	577	c.379C>T	c.(379-381)Cgc>Tgc	p.R127C	GJB2_ENST00000382848.4_Missense_Mutation_p.R127C			P29033	CXB2_HUMAN	gap junction protein, beta 2, 26kDa	127			R -> H (very common polymorphism in India; dbSNP:rs111033196). {ECO:0000269|PubMed:12746422, ECO:0000269|PubMed:14722929, ECO:0000269|PubMed:15666300}.		cell-cell signaling (GO:0007267)|gap junction assembly (GO:0016264)|male genitalia development (GO:0030539)|membrane organization (GO:0061024)|sensory perception of sound (GO:0007605)|transport (GO:0006810)	connexon complex (GO:0005922)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)	gap junction channel activity (GO:0005243)			breast(1)|endometrium(2)|large_intestine(1)|lung(2)|skin(1)	7		all_cancers(29;3.95e-22)|all_epithelial(30;2.36e-19)|all_lung(29;2.27e-18)|Lung SC(185;0.0257)|Ovarian(182;0.0822)		all cancers(112;0.000435)|Epithelial(112;0.000722)|OV - Ovarian serous cystadenocarcinoma(117;0.0096)|Lung(94;0.0236)|LUSC - Lung squamous cell carcinoma(192;0.0738)		CCTTCGATGCGGACCTTCTGG	0.512									Keratitis, Ichthyosis and Deafness syndrome		OREG0022282	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000382844.1																			0				breast(1)|endometrium(2)|large_intestine(1)|lung(2)|skin(1)	7	GRCh37	CM014710	GJB2	M		c.(379-381)Cgc>Tgc		gap junction protein, beta 2, 26kDa							114	107	109					13																	20763342		2203	4300	6503	SO:0001583	missense	0	Keratitis, Ichthyosis and Deafness syndrome	Familial Cancer Database	KID syndrome	cell-cell signaling|cellular membrane organization|gap junction assembly|sensory perception of sound|transport	connexon complex|ER-Golgi intermediate compartment|integral to membrane		g.chr13:20763342G>A	M86849	CCDS9290.1	13q11-q12	2010-01-06	2007-01-16		ENSG00000165474	ENSG00000165474		"Ion channels / Gap junction proteins (connexins)"	4284	protein-coding gene	gene with protein product	"connexin 26"	121011	"gap junction protein, beta 2, 26kD (connexin 26)", "gap junction protein, beta 2, 26kDa (connexin 26)"	DFNB1, DFNA3		9139825	Standard	NM_004004		Approved	CX26, NSRD1	uc001umy.3	P29033	OTTHUMG00000016513	ENST00000382844.1:c.379C>T	13.37:g.20763342G>A	ENSP00000372295:p.Arg127Cys		OREG0022282	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	743	GJB2_ENST00000382848.4_Missense_Mutation_p.R127C	p.R127C			P29033	CXB2_HUMAN		all cancers(112;0.000435)|Epithelial(112;0.000722)|OV - Ovarian serous cystadenocarcinoma(117;0.0096)|Lung(94;0.0236)|LUSC - Lung squamous cell carcinoma(192;0.0738)	1	577	-		all_cancers(29;3.95e-22)|all_epithelial(30;2.36e-19)|all_lung(29;2.27e-18)|Lung SC(185;0.0257)|Ovarian(182;0.0822)	127		R -> H (very common polymorphism in India).			Q508A5|Q508A6|Q5YLL0|Q5YLL1|Q5YLL4|Q6IPV5|Q86U88|Q96AK0|Q9H536|Q9NNY4	Missense_Mutation	SNP	ENST00000382844.1	37	c.379C>T	CCDS9290.1	.	.	.	.	.	.	.	.	.	.	G	18.77	3.694148	0.68386	.	.	ENSG00000165474	ENST00000382848;ENST00000382844	D;D	0.97791	-4.54;-4.54	5.47	5.47	0.80525	.	0.000000	0.64402	D	0.000002	D	0.96188	0.8757	L	0.55481	1.735	0.80722	D	1	D	0.64830	0.994	B	0.43536	0.423	D	0.95978	0.8975	10	0.56958	D	0.05	.	14.5272	0.67897	0.0:0.0:0.8535:0.1465	.	127	P29033	CXB2_HUMAN	C	127	ENSP00000372299:R127C;ENSP00000372295:R127C	ENSP00000372295:R127C	R	-	1	0	GJB2	19661342	0.998000	0.40836	0.999000	0.59377	0.862000	0.49288	4.443000	0.59994	2.723000	0.93209	0.655000	0.94253	CGC		0.512	GJB2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044064.1			27	51	0	0	0	1	0	27	51					A	20763342	G	A	20763342	3	1	336	1	0	0	0	0	1	0	0	0	6408	1116	39	2	305	2	GJB2	13	20763342	Missense_Mutation	SNP	G	TCGA-KK-A8I8-01A-11D-A364-08		20763342	94406536	16	17035											
NID2	22795	broad.mit.edu	37	chr14	52508861	52508861	+	Nonsense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tctcagagccaggtttttctAaagcaaagagccagccaaac	14	8	8	11	0	2	2	1	0	2	2	3	2	2	2	3	1	5	2	3	1	4	3			TCGA-KK-A8I8-01A-11D-A364-08	TCGA-KK-A8I8-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99d7021e-f0da-44fb-8f6c-5bcd2c433a0e	fe39a0c2-56d9-445c-ab4b-744d4d21f8c2	g.chr14:52508861A>T	ENST00000216286.5	-	7	1786	c.1787T>A	c.(1786-1788)tTa>tAa	p.L596*	NID2_ENST00000541773.1_Nonsense_Mutation_p.L543*	NM_007361.3	NP_031387.3	Q14112	NID2_HUMAN	nidogen 2 (osteonidogen)	596	Nidogen G2 beta-barrel. {ECO:0000255|PROSITE-ProRule:PRU00348}.				basement membrane organization (GO:0071711)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|cell surface (GO:0009986)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)			NS(1)|breast(5)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(40)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	87	Breast(41;0.0639)|all_epithelial(31;0.123)					AGGTTTTTCTAAAGCAAAGAG	0.602																																						ENST00000216286.5																			0				NS(1)|breast(5)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(40)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	87						c.(1786-1788)tTa>tAa		nidogen 2 (osteonidogen)							88	97	94					14																	52508861		2203	4300	6503	SO:0001587	stop_gained	22795					basement membrane	calcium ion binding|collagen binding	g.chr14:52508861A>T	AB009799	CCDS9706.1	14q22.1	2008-05-14			ENSG00000087303	ENSG00000087303			13389	protein-coding gene	gene with protein product		605399				9733643	Standard	NM_007361		Approved		uc001wzo.3	Q14112	OTTHUMG00000140298	ENST00000216286.5:c.1787T>A	14.37:g.52508861A>T	ENSP00000216286:p.Leu596*					NID2_ENST00000541773.1_Nonsense_Mutation_p.L543*	p.L596*	NM_007361.3	NP_031387.3	Q14112	NID2_HUMAN			7	1786	-	Breast(41;0.0639)|all_epithelial(31;0.123)		596			Nidogen G2 beta-barrel.		A8K6I7|B4DU19|O43710	Nonsense_Mutation	SNP	ENST00000216286.5	37	c.1787T>A	CCDS9706.1	.	.	.	.	.	.	.	.	.	.	A	41	8.966905	0.99019	.	.	ENSG00000087303	ENST00000216286;ENST00000316204;ENST00000541773;ENST00000395707	.	.	.	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	16.0558	0.80805	1.0:0.0:0.0:0.0	.	.	.	.	X	596;190;543;598	.	ENSP00000216286:L596X	L	-	2	0	NID2	51578611	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.806000	0.91930	2.281000	0.76405	0.533000	0.62120	TTA		0.602	NID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276888.1			37	69	0	0	0	1	0	37	69					T	52508861	A	T	52508861	4	4	336	1	0	0	0	0	0	1	0	0	10415	372	13	5	2404	5	NID2	14	52508861	Nonsense_Mutation	SNP	A	TCGA-KK-A8I8-01A-11D-A364-08		52508861	54840679	17	17036											
HSP90AA1	3320	broad.mit.edu	37	chr14	102548543	102548543	+	Nonsense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagcgcagtttcataaagcAagatgaccagatccttcaca	14	8	9	10	1	2	3	2	1	0	2	3	4	3	4	2	1	2	3	2	1	3	3			TCGA-KK-A8I8-01A-11D-A364-08	TCGA-KK-A8I8-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99d7021e-f0da-44fb-8f6c-5bcd2c433a0e	fe39a0c2-56d9-445c-ab4b-744d4d21f8c2	g.chr14:102548543A>T	ENST00000216281.8	-	10	2199	c.1994T>A	c.(1993-1995)tTg>tAg	p.L665*	HSP90AA1_ENST00000334701.7_Nonsense_Mutation_p.L787*	NM_005348.3	NP_005339.3	P07900	HS90A_HUMAN	heat shock protein 90kDa alpha (cytosolic), class A member 1	665					ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|chaperone-mediated protein complex assembly (GO:0051131)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|G2/M transition of mitotic cell cycle (GO:0000086)|innate immune response (GO:0045087)|mitochondrial transport (GO:0006839)|mitotic cell cycle (GO:0000278)|nitric oxide metabolic process (GO:0046209)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|protein import into mitochondrial outer membrane (GO:0045040)|protein refolding (GO:0042026)|regulation of nitric-oxide synthase activity (GO:0050999)|response to unfolded protein (GO:0006986)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle lumen (GO:0071682)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|identical protein binding (GO:0042802)|MHC class II protein complex binding (GO:0023026)|nitric-oxide synthase regulator activity (GO:0030235)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|TPR domain binding (GO:0030911)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(6)|large_intestine(3)|liver(1)|lung(10)|ovary(2)|prostate(1)	28					Nedocromil(DB00716)|Rifabutin(DB00615)	TTCATAAAGCAAGATGACCAG	0.458																																						ENST00000334701.7																			0				breast(1)|central_nervous_system(2)|endometrium(2)|kidney(6)|large_intestine(3)|liver(1)|lung(10)|ovary(2)|prostate(1)	28						c.(2359-2361)tTg>tAg		heat shock protein 90kDa alpha (cytosolic), class A member 1	Rifabutin(DB00615)						123	117	119					14																	102548543		2203	4300	6503	SO:0001587	stop_gained	3320				axon guidance|cellular chaperone-mediated protein complex assembly|G2/M transition of mitotic cell cycle|nitric oxide metabolic process|positive regulation of nitric oxide biosynthetic process|protein import into mitochondrial outer membrane|protein refolding|regulation of nitric-oxide synthase activity|response to unfolded protein|signal transduction	cytosol|melanosome|plasma membrane	ATP binding|ATPase activity|nitric-oxide synthase regulator activity|protein homodimerization activity|TPR domain binding|unfolded protein binding	g.chr14:102548543A>T	M27024	CCDS9967.1, CCDS32160.1	14q32.33	2011-09-02	2006-02-24	2006-02-24	ENSG00000080824	ENSG00000080824		"Heat shock proteins / HSPC"	5253	protein-coding gene	gene with protein product		140571	"heat shock 90kD protein 1, alpha", "heat shock 90kDa protein 1, alpha"	HSPC1, HSPCA		2527334, 16269234	Standard	NM_001017963		Approved	Hsp89, Hsp90, FLJ31884, HSP90N	uc001ykv.4	P07900		ENST00000216281.8:c.1994T>A	14.37:g.102548543A>T	ENSP00000216281:p.Leu665*					HSP90AA1_ENST00000216281.8_Nonsense_Mutation_p.L665*	p.L787*	NM_001017963.2	NP_001017963.2	P07900	HS90A_HUMAN			11	2641	-			665					A8K500|B3KPJ9|Q2PP14|Q5CAQ6|Q5CAQ7|Q9BVQ5	Nonsense_Mutation	SNP	ENST00000216281.8	37	c.2360T>A	CCDS9967.1	.	.	.	.	.	.	.	.	.	.	a	41	8.886985	0.98990	.	.	ENSG00000080824	ENST00000216281;ENST00000334701	.	.	.	4.47	4.47	0.54385	.	0.000000	0.64402	U	0.000008	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-18.6149	14.1096	0.65113	1.0:0.0:0.0:0.0	.	.	.	.	X	665;787	.	ENSP00000216281:L665X	L	-	2	0	HSP90AA1	101618296	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	8.962000	0.93254	1.805000	0.52779	0.473000	0.43528	TTG		0.458	HSP90AA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414952.2	NM_005348		42	115	0	0	0	1	0	42	115					T	102548543	A	T	102548543	4	4	336	1	0	0	0	0	0	1	0	0	7401	131	5	5	212	5	HSP90AA1	14	102548543	Nonsense_Mutation	SNP	A	TCGA-KK-A8I8-01A-11D-A364-08	50039682	102548543	4800997	18	17037											
ISLR	3671	broad.mit.edu	37	chr15	74468241	74468241	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acgtggcactggccacgcccGgtgagggtggtgaggacaca	8	5	17	11	3	0	2	0	2	0	0	0	3	0	3	2	6	0	1	2	6	0	0			TCGA-KK-A8I8-01A-11D-A364-08	TCGA-KK-A8I8-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99d7021e-f0da-44fb-8f6c-5bcd2c433a0e	fe39a0c2-56d9-445c-ab4b-744d4d21f8c2	g.chr15:74468241G>A	ENST00000249842.3	+	2	1399	c.1042G>A	c.(1042-1044)Ggt>Agt	p.G348S	ISLR_ENST00000395118.1_Missense_Mutation_p.G348S|RP11-665J16.1_ENST00000561647.1_RNA	NM_005545.3	NP_005536.1	O14498	ISLR_HUMAN	immunoglobulin superfamily containing leucine-rich repeat	348					cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)				central_nervous_system(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)	20						GGCCACGCCCGGTGAGGGTGG	0.632																																						ENST00000249842.3																			0				central_nervous_system(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)	20						c.(1042-1044)Ggt>Agt		immunoglobulin superfamily containing leucine-rich repeat							71	61	64					15																	74468241		2198	4297	6495	SO:0001583	missense	3671				cell adhesion	extracellular region		g.chr15:74468241G>A	AB003184	CCDS10260.1	15q23-q24	2013-01-11			ENSG00000129009	ENSG00000129009		"Immunoglobulin superfamily / I-set domain containing"	6133	protein-coding gene	gene with protein product		602059				9325048	Standard	NM_005545		Approved	HsT17563	uc002axh.1	O14498	OTTHUMG00000137623	ENST00000249842.3:c.1042G>A	15.37:g.74468241G>A	ENSP00000249842:p.Gly348Ser					ISLR_ENST00000395118.1_Missense_Mutation_p.G348S|RP11-665J16.1_ENST00000561647.1_RNA	p.G348S	NM_005545.3	NP_005536.1	O14498	ISLR_HUMAN			2	1399	+			348						Missense_Mutation	SNP	ENST00000249842.3	37	c.1042G>A	CCDS10260.1	.	.	.	.	.	.	.	.	.	.	G	6.727	0.502813	0.12822	.	.	ENSG00000129009	ENST00000249842;ENST00000395118	T;T	0.60797	0.16;0.16	4.34	3.42	0.39159	.	0.214388	0.24737	U	0.036002	T	0.30603	0.0770	N	0.14661	0.345	0.09310	N	1	P	0.43633	0.813	B	0.33620	0.167	T	0.12344	-1.0551	10	0.15952	T	0.53	.	8.602	0.33751	0.1772:0.0:0.8228:0.0	.	348	O14498	ISLR_HUMAN	S	348	ENSP00000249842:G348S;ENSP00000378550:G348S	ENSP00000249842:G348S	G	+	1	0	ISLR	72255294	0.060000	0.20803	0.003000	0.11579	0.001000	0.01503	0.923000	0.28757	0.820000	0.34516	-0.339000	0.08088	GGT		0.632	ISLR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269044.1	NM_005545		8	15	0	0	0	1	0	8	15					A	74468241	G	A	74468241	3	1	336	1	0	0	0	0	1	0	0	0	7858	1116	39	2	1044	2	ISLR	15	74468241	Missense_Mutation	SNP	G	TCGA-KK-A8I8-01A-11D-A364-08		74468241	28063151	19	17038											
PPFIA3	8541	broad.mit.edu	37	chr19	49636536	49636536	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggccgagtggttggacgacGccaagcagaagctgcagcag	10	5	16	10	3	0	1	0	0	0	1	0	4	0	2	2	3	4	5	2	3	2	1			TCGA-KK-A8I8-01A-11D-A364-08	TCGA-KK-A8I8-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99d7021e-f0da-44fb-8f6c-5bcd2c433a0e	fe39a0c2-56d9-445c-ab4b-744d4d21f8c2	g.chr19:49636536G>A	ENST00000334186.4	+	9	1418	c.1069G>A	c.(1069-1071)Gcc>Acc	p.A357T	PPFIA3_ENST00000602351.1_Missense_Mutation_p.A357T	NM_003660.2	NP_003651.1	O75145	LIPA3_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 3	357					cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|presynaptic active zone (GO:0048786)				NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(16)|pancreas(1)|prostate(1)|skin(4)|urinary_tract(1)	35		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.36e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000203)|GBM - Glioblastoma multiforme(486;0.00307)|Epithelial(262;0.00677)		GTTGGACGACGCCAAGCAGAA	0.687																																						ENST00000334186.4																			0				NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(16)|pancreas(1)|prostate(1)|skin(4)|urinary_tract(1)	35						c.(1069-1071)Gcc>Acc		protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 3							29	32	31					19																	49636536		2198	4292	6490	SO:0001583	missense	8541					cell surface|cytoplasm	protein binding	g.chr19:49636536G>A	AF034800	CCDS12758.1	19q13.33	2013-09-23			ENSG00000177380	ENSG00000177380		"Sterile alpha motif (SAM) domain containing"	9247	protein-coding gene	gene with protein product	"protein tyrosine phosphatase, receptor type, f polypeptide, alpha 3", "liprin-alpha 3", "liprin"	603144				9624153, 9734811	Standard	NM_003660		Approved	KIAA0654, LPNA3, MGC126567, MGC126569	uc002pmr.3	O75145	OTTHUMG00000183213	ENST00000334186.4:c.1069G>A	19.37:g.49636536G>A	ENSP00000335614:p.Ala357Thr					PPFIA3_ENST00000602351.1_Missense_Mutation_p.A357T	p.A357T	NM_003660.2	NP_003651.1	O75145	LIPA3_HUMAN		all cancers(93;2.36e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000203)|GBM - Glioblastoma multiforme(486;0.00307)|Epithelial(262;0.00677)	9	1418	+		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)	357					A8K142|Q3MJA0|Q9H8B5|Q9UEW4	Missense_Mutation	SNP	ENST00000334186.4	37	c.1069G>A	CCDS12758.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.224238	0.79576	.	.	ENSG00000177380	ENST00000334186;ENST00000421230	T	0.21734	1.99	3.91	3.91	0.45181	.	0.130592	0.31760	N	0.007106	T	0.43233	0.1238	M	0.85197	2.74	0.58432	D	0.999995	D;D;B	0.58620	0.983;0.972;0.026	P;P;B	0.54924	0.718;0.764;0.04	T	0.54029	-0.8354	10	0.56958	D	0.05	-8.6564	15.2619	0.73631	0.0:0.0:1.0:0.0	.	281;357;357	B4DEU8;O75145-2;O75145	.;.;LIPA3_HUMAN	T	357;281	ENSP00000335614:A357T	ENSP00000335614:A357T	A	+	1	0	PPFIA3	54328348	1.000000	0.71417	0.997000	0.53966	0.976000	0.68499	9.507000	0.97996	2.213000	0.71641	0.555000	0.69702	GCC		0.687	PPFIA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465688.1	NM_003660		4	40	0	0	0	1	0	4	40					A	49636536	G	A	49636536	3	1	336	1	0	0	0	0	1	0	0	0	12311	1087	38	1	1099	1	PPFIA3	19	49636536	Missense_Mutation	SNP	G	TCGA-KK-A8I8-01A-11D-A364-08		49636536	9492447	20	17039											
MATN4	8785	broad.mit.edu	37	chr20	43929859	43929859	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttcccaaagctgcagtagtCaatggctggcaggagggaag	11	7	15	8	0	1	0	1	0	0	0	2	2	2	2	1	4	2	6	1	4	4	2			TCGA-KK-A8I8-01A-11D-A364-08	TCGA-KK-A8I8-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99d7021e-f0da-44fb-8f6c-5bcd2c433a0e	fe39a0c2-56d9-445c-ab4b-744d4d21f8c2	g.chr20:43929859C>A	ENST00000372754.1	-	5	903	c.895G>T	c.(895-897)Gac>Tac	p.D299Y	MATN4_ENST00000342716.4_Missense_Mutation_p.D258Y|MATN4_ENST00000353917.5_Intron|MATN4_ENST00000360607.6_Missense_Mutation_p.D217Y|MATN4_ENST00000537548.1_Missense_Mutation_p.D258Y|MATN4_ENST00000372751.4_Missense_Mutation_p.D109Y|MATN4_ENST00000372756.1_Missense_Mutation_p.D258Y			O95460	MATN4_HUMAN	matrilin 4	299	EGF-like 3. {ECO:0000255|PROSITE- ProRule:PRU00076}.				extracellular matrix organization (GO:0030198)|response to axon injury (GO:0048678)	extracellular region (GO:0005576)				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	27		Myeloproliferative disorder(115;0.0122)				CTGCAGTAGTCAATGGCTGGC	0.592											OREG0025977	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000537548.1																			0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						c.(772-774)Gac>Tac		matrilin 4							82	84	84					20																	43929859		2203	4300	6503	SO:0001583	missense	8785					extracellular region	protein binding	g.chr20:43929859C>A	AJ007581	CCDS13348.1, CCDS46607.1	20q13.1-q13.2	2008-07-07			ENSG00000124159	ENSG00000124159			6910	protein-coding gene	gene with protein product		603897				9827539, 9027493	Standard	NM_003833		Approved		uc002xnn.2	O95460	OTTHUMG00000033043	ENST00000372754.1:c.895G>T	20.37:g.43929859C>A	ENSP00000361840:p.Asp299Tyr		OREG0025977	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	920	MATN4_ENST00000372754.1_Missense_Mutation_p.D299Y|MATN4_ENST00000372756.1_Missense_Mutation_p.D258Y|MATN4_ENST00000353917.5_Intron|MATN4_ENST00000342716.4_Missense_Mutation_p.D258Y|MATN4_ENST00000372753.1_Missense_Mutation_p.D109Y|MATN4_ENST00000372751.4_Missense_Mutation_p.D109Y|MATN4_ENST00000360607.5_Missense_Mutation_p.D217Y	p.D258Y			O95460	MATN4_HUMAN			6	1016	-		Myeloproliferative disorder(115;0.0122)	299			EGF-like 2.		A6NH94|A6NKN5|Q5QPU2|Q5QPU3|Q5QPU4|Q8N2M5|Q8N2M7|Q9H1F8|Q9H1F9	Missense_Mutation	SNP	ENST00000372754.1	37	c.772G>T		.	.	.	.	.	.	.	.	.	.	C	20.2	3.945707	0.73672	.	.	ENSG00000124159	ENST00000372753;ENST00000372754;ENST00000372756;ENST00000360607;ENST00000342716;ENST00000537548;ENST00000255132;ENST00000372751	D;D;D;T;D;D;D	0.97209	-2.41;-2.41;-4.29;-0.52;-4.29;-4.29;-2.41	5.25	4.31	0.51392	.	0.145914	0.31358	N	0.007799	D	0.98940	0.9640	H	0.97265	3.97	0.58432	D	0.999997	D;D	0.89917	1.0;1.0	D;D	0.75484	0.971;0.986	D	0.99191	1.0870	10	0.87932	D	0	.	13.0623	0.59014	0.0:0.9235:0.0:0.0765	.	217;258	O95460-4;O95460-2	.;.	Y	109;299;258;217;258;258;299;109	ENSP00000361839:D109Y;ENSP00000361840:D299Y;ENSP00000361842:D258Y;ENSP00000353819:D217Y;ENSP00000343164:D258Y;ENSP00000440328:D258Y;ENSP00000361837:D109Y	ENSP00000255132:D299Y	D	-	1	0	MATN4	43363273	1.000000	0.71417	0.998000	0.56505	0.942000	0.58702	2.318000	0.43779	1.464000	0.47987	0.650000	0.86243	GAC		0.592	MATN4-002	KNOWN	non_canonical_conserved|non_canonical_U12|not_organism_supported|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000080335.1			4	86	1	0	0.00024832	1	0.000260145	4	86					A	43929859	C	A	43929859	3	1	336	1	0	0	0	0	1	0	0	0	9336	826	29	5	997	5	MATN4	20	43929859	Missense_Mutation	SNP	C	TCGA-KK-A8I8-01A-11D-A364-08		43929859	19095661	21	17040											
TTC3	7267	broad.mit.edu	37	chr21	38536463	38536463	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagtaacgaatatgttgtccGcaataagaagctatgggaca	15	9	10	7	2	0	1	0	0	0	1	1	3	1	2	1	1	2	4	1	1	7	5			TCGA-KK-A8I8-01A-11D-A364-08	TCGA-KK-A8I8-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99d7021e-f0da-44fb-8f6c-5bcd2c433a0e	fe39a0c2-56d9-445c-ab4b-744d4d21f8c2	g.chr21:38536463G>A	ENST00000399017.2	+	32	6028	c.3281G>A	c.(3280-3282)cGc>cAc	p.R1094H	TTC3_ENST00000479930.1_3'UTR|TTC3_ENST00000355666.1_Missense_Mutation_p.R1094H|TTC3_ENST00000354749.2_Missense_Mutation_p.R1094H	NM_003316.3	NP_003307.3	P53804	TTC3_HUMAN	tetratricopeptide repeat domain 3	1094					negative regulation of cell morphogenesis involved in differentiation (GO:0010771)|negative regulation of neuron differentiation (GO:0045665)|protein K48-linked ubiquitination (GO:0070936)|ubiquitin-dependent protein catabolic process (GO:0006511)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|vacuole (GO:0005773)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(5)|endometrium(7)|kidney(5)|large_intestine(17)|liver(1)|lung(18)|ovary(4)|prostate(2)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(5)	75		Myeloproliferative disorder(46;0.0412)				TATGTTGTCCGCAATAAGAAG	0.393																																					Ovarian(38;194 1649 35661)	ENST00000399017.2																			0				breast(5)|endometrium(7)|kidney(5)|large_intestine(17)|liver(1)|lung(18)|ovary(4)|prostate(2)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(5)	75						c.(3280-3282)cGc>cAc		tetratricopeptide repeat domain 3							84	77	79					21																	38536463		2203	4300	6503	SO:0001583	missense	7267				protein K48-linked ubiquitination|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr21:38536463G>A	D84296	CCDS13651.1	21q22.2	2013-01-11			ENSG00000182670	ENSG00000182670		"RING-type (C3HC4) zinc fingers", "Tetratricopeptide (TTC) repeat domain containing"	12393	protein-coding gene	gene with protein product		602259				8947847	Standard	NM_003316		Approved	TPRD, TPRDI, DCRR1, TPRDII, TPRDIII, RNF105	uc002yvz.3	P53804	OTTHUMG00000086654	ENST00000399017.2:c.3281G>A	21.37:g.38536463G>A	ENSP00000381981:p.Arg1094His					TTC3_ENST00000354749.2_Missense_Mutation_p.R1094H|TTC3_ENST00000355666.1_Missense_Mutation_p.R1094H|TTC3_ENST00000479930.1_3'UTR	p.R1094H	NM_003316.3	NP_003307.3	P53804	TTC3_HUMAN			32	6028	+		Myeloproliferative disorder(46;0.0412)	1094					A8K7H7|B2RPA7|D3DSG9|D3DSH2|D3DSH3|O60767|P78476|P78477|Q569I2|Q6P578|Q9UEK4	Missense_Mutation	SNP	ENST00000399017.2	37	c.3281G>A	CCDS13651.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.52|15.52	2.858057|2.858057	0.51376|0.51376	.|.	.|.	ENSG00000182670|ENSG00000182670	ENST00000411496|ENST00000418766;ENST00000438055;ENST00000355666;ENST00000399017;ENST00000354749	.|T;T;T;T;T	.|0.12255	.|2.7;2.7;3.05;3.05;3.05	4.92|4.92	2.66|2.66	0.31614|0.31614	.|.	.|0.390747	.|0.20615	.|N	.|0.088890	T|T	0.26048|0.26048	0.0635|0.0635	L|L	0.57536|0.57536	1.79|1.79	0.22666|0.22666	N|N	0.998871|0.998871	.|D;D	.|0.89917	.|1.0;0.999	.|D;P	.|0.74023	.|0.982;0.869	T|T	0.02546|0.02546	-1.1143|-1.1143	5|10	.|0.52906	.|T	.|0.07	-5.9888|-5.9888	4.9199|4.9199	0.13865|0.13865	0.3454:0.0:0.6546:0.0|0.3454:0.0:0.6546:0.0	.|.	.|152;1094	.|Q5GIT6;P53804	.|.;TTC3_HUMAN	T|H	250|1094;1076;1094;1094;1094	.|ENSP00000403943:R1094H;ENSP00000391891:R1076H;ENSP00000347889:R1094H;ENSP00000381981:R1094H;ENSP00000346791:R1094H	.|ENSP00000346791:R1094H	A|R	+|+	1|2	0|0	TTC3|TTC3	37458333|37458333	0.000000|0.000000	0.05858|0.05858	0.882000|0.882000	0.34594|0.34594	0.975000|0.975000	0.68041|0.68041	0.380000|0.380000	0.20602|0.20602	1.204000|1.204000	0.43247|0.43247	0.591000|0.591000	0.81541|0.81541	GCA|CGC		0.393	TTC3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194776.1			19	40	0	0	0	1	0	19	40					A	38536463	G	A	38536463	3	1	336	1	0	0	0	0	1	0	0	0	16694	1087	38	1	3403	1	TTC3	21	38536463	Missense_Mutation	SNP	G	TCGA-KK-A8I8-01A-11D-A364-08		38536463	9593432	22	17041											
AIFM3	150209	broad.mit.edu	37	chr22	21327704	21327704	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagggcaatggcacggcccGccacttccacacggaggagc	9	3	13	16	3	0	0	0	0	0	0	1	2	1	2	4	5	1	2	4	5	1	1			TCGA-KK-A8I8-01A-11D-A364-08	TCGA-KK-A8I8-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99d7021e-f0da-44fb-8f6c-5bcd2c433a0e	fe39a0c2-56d9-445c-ab4b-744d4d21f8c2	g.chr22:21327704G>A	ENST00000399167.2	+	3	380	c.140G>A	c.(139-141)cGc>cAc	p.R47H	AIFM3_ENST00000399163.2_Missense_Mutation_p.R47H|AIFM3_ENST00000333607.6_Missense_Mutation_p.R47H|AIFM3_ENST00000405089.1_Missense_Mutation_p.R53H|AIFM3_ENST00000440238.2_Missense_Mutation_p.R47H|AIFM3_ENST00000335375.5_Missense_Mutation_p.A72T	NM_144704.2	NP_653305.1	Q96NN9	AIFM3_HUMAN	apoptosis-inducing factor, mitochondrion-associated, 3	47					cell redox homeostasis (GO:0045454)|execution phase of apoptosis (GO:0097194)	endoplasmic reticulum (GO:0005783)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	2 iron, 2 sulfur cluster binding (GO:0051537)|flavin adenine dinucleotide binding (GO:0050660)|metal ion binding (GO:0046872)|oxidoreductase activity (GO:0016491)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	21	all_cancers(11;3.71e-26)|all_epithelial(7;1.59e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0367)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)			GGCACGGCCCGCCACTTCCAC	0.662																																						ENST00000399167.2																			0				breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	21						c.(139-141)cGc>cAc		apoptosis-inducing factor, mitochondrion-associated, 3							23	24	24					22																	21327704		2202	4297	6499	SO:0001583	missense	150209							g.chr22:21327704G>A	AK094844	CCDS13786.1, CCDS33605.1, CCDS54503.1	22q11.21	2007-05-03			ENSG00000183773	ENSG00000183773			26398	protein-coding gene	gene with protein product						15764604	Standard	NM_144704		Approved	AIFL, FLJ30473		Q96NN9	OTTHUMG00000150804	ENST00000399167.2:c.140G>A	22.37:g.21327704G>A	ENSP00000382120:p.Arg47His					AIFM3_ENST00000399163.2_Missense_Mutation_p.R47H|AIFM3_ENST00000333607.6_Missense_Mutation_p.R47H|AIFM3_ENST00000405089.1_Missense_Mutation_p.R53H|AIFM3_ENST00000335375.5_Missense_Mutation_p.A72T|AIFM3_ENST00000440238.2_Missense_Mutation_p.R47H	p.R47H	NM_144704.2	NP_653305.1			LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)		3	380	+	all_cancers(11;3.71e-26)|all_epithelial(7;1.59e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0367)						B7WP37|D3DX37|D3DX38|Q6ZT44|Q8N1V3|Q8N5E0	Missense_Mutation	SNP	ENST00000399167.2	37	c.140G>A	CCDS13786.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.47|18.47	3.630318|3.630318	0.67015|0.67015	.|.	.|.	ENSG00000183773|ENSG00000183773	ENST00000335375|ENST00000399167;ENST00000399163;ENST00000441376;ENST00000434714;ENST00000405089;ENST00000440238;ENST00000333607	T|T;T;T;T;T	0.56103|0.51071	0.48|0.73;0.73;0.72;0.73;0.73	5.17|5.17	5.17|5.17	0.71159|0.71159	.|.	.|0.065074	.|0.64402	.|D	.|0.000007	T|T	0.41396|0.41396	0.1157|0.1157	N|N	0.19112|0.19112	0.55|0.55	0.47374|0.47374	D|D	0.999407|0.999407	B|D;D;D	0.31519|0.69078	0.327|0.997;0.994;0.997	B|P;P;P	0.21151|0.47744	0.033|0.556;0.556;0.469	T|T	0.38222|0.38222	-0.9671|-0.9671	9|10	0.87932|0.48119	D|T	0|0.1	-8.8417|-8.8417	16.1564|16.1564	0.81670|0.81670	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	72|53;47;47	B7Z9S7|Q96NN9-2;Q96NN9-3;Q96NN9	.|.;.;AIFM3_HUMAN	T|H	72|47;47;47;47;53;47;47	ENSP00000335369:A72T|ENSP00000382120:R47H;ENSP00000382116:R47H;ENSP00000385800:R53H;ENSP00000390798:R47H;ENSP00000327671:R47H	ENSP00000335369:A72T|ENSP00000327671:R47H	A|R	+|+	1|2	0|0	AIFM3|AIFM3	19657704|19657704	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.518000|0.518000	0.34316|0.34316	5.187000|5.187000	0.65087|0.65087	2.394000|2.394000	0.81467|0.81467	0.650000|0.650000	0.86243|0.86243	GCC|CGC		0.662	AIFM3-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000320150.1	NM_144704		7	8	0	0	0	1	0	7	8					A	21327704	G	A	21327704	3	1	336	1	0	0	0	0	1	0	0	0	428	1087	38	1	164	1	AIFM3	22	21327704	Missense_Mutation	SNP	G	TCGA-KK-A8I8-01A-11D-A364-08		21327704	29976862	23	17042											
TFAP2E	339488	broad.mit.edu	37	chr1	36054078	36054078	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacgtccaagtacaaggtgaCggtgggggaggtgcagcggc	10	5	18	8	3	0	1	0	1	0	0	1	2	1	2	1	6	4	2	1	6	4	1	rs138290823		TCGA-KK-A8I9-01A-11D-A364-08	TCGA-KK-A8I9-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bebc84b6-9179-420b-8207-858b999e8c0c	50b1e243-b45a-42a1-8692-b7ae5d51250f	g.chr1:36054078C>T	ENST00000373235.3	+	4	918	c.710C>T	c.(709-711)aCg>aTg	p.T237M		NM_178548.3	NP_848643.2			transcription factor AP-2 epsilon (activating enhancer binding protein 2 epsilon)											endometrium(1)|large_intestine(1)	2		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.196)				TACAAGGTGACGGTGGGGGAG	0.642																																						ENST00000373235.3																			0				endometrium(1)|large_intestine(1)	2						c.(709-711)aCg>aTg		transcription factor AP-2 epsilon (activating enhancer binding protein 2 epsilon)		C	MET/THR	2,4404	6.2+/-15.9	0,2,2201	115	103	107		710	5.8	1	1	dbSNP_134	107	0,8600		0,0,4300	yes	missense	TFAP2E	NM_178548.3	81	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	probably-damaging	237/443	36054078	2,13004	2203	4300	6503	SO:0001583	missense	339488					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr1:36054078C>T	BC041175	CCDS393.2	1p34.3	2008-02-05			ENSG00000116819	ENSG00000116819			30774	protein-coding gene	gene with protein product		614428				14636996	Standard	NM_178548		Approved	AP2E	uc010ohy.2	Q6VUC0	OTTHUMG00000004388	ENST00000373235.3:c.710C>T	1.37:g.36054078C>T	ENSP00000362332:p.Thr237Met						p.T237M	NM_178548.3	NP_848643.2	Q6VUC0	AP2E_HUMAN			4	918	+		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.196)	237						Missense_Mutation	SNP	ENST00000373235.3	37	c.710C>T	CCDS393.2	.	.	.	.	.	.	.	.	.	.	C	34	5.308024	0.95629	4.54E-4	0.0	ENSG00000116819	ENST00000373235	D	0.98762	-5.12	5.8	5.8	0.92144	Transcription factor AP-2, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.99420	0.9795	M	0.93678	3.445	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.98740	1.0716	10	0.87932	D	0	-17.2872	20.0591	0.97667	0.0:1.0:0.0:0.0	.	237	Q6VUC0	AP2E_HUMAN	M	237	ENSP00000362332:T237M	ENSP00000362332:T237M	T	+	2	0	TFAP2E	35826665	1.000000	0.71417	0.997000	0.53966	0.980000	0.70556	7.818000	0.86416	2.747000	0.94245	0.462000	0.41574	ACG		0.642	TFAP2E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012732.1	NM_178548		8	79	0	0	0	1	0	8	79					T	36054078	C	T	36054078	3	4	337	1	0	0	0	0	1	0	0	0	15788	536	19	1	724	1	TFAP2E	1	36054078	Missense_Mutation	SNP	C	TCGA-KK-A8I9-01A-11D-A364-08		36054078	213196543	1	17043											
ADORA3	140	broad.mit.edu	37	chr1	112042982	112042982	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggggatgaaaatccaggtgaGgaagctgaagtataccatgt	14	8	14	5	0	0	3	0	3	0	0	1	5	1	5	2	4	2	2	2	4	6	2			TCGA-KK-A8I9-01A-11D-A364-08	TCGA-KK-A8I9-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bebc84b6-9179-420b-8207-858b999e8c0c	50b1e243-b45a-42a1-8692-b7ae5d51250f	g.chr1:112042982G>A	ENST00000241356.4	-	2	952	c.547C>T	c.(547-549)Ctc>Ttc	p.L183F	ADORA3_ENST00000486342.1_5'Flank|ADORA3_ENST00000369716.4_Intron|ADORA3_ENST00000369717.4_Intron	NM_000677.3	NP_000668.1	P33765	AA3R_HUMAN	adenosine A3 receptor	183					activation of adenylate cyclase activity (GO:0007190)|histamine secretion by mast cell (GO:0002553)|inflammatory response (GO:0006954)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of inflammatory response (GO:0050729)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of mast cell degranulation (GO:0043306)|positive regulation of mucus secretion (GO:0070257)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|regulation of heart contraction (GO:0008016)|response to wounding (GO:0009611)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|mast cell granule (GO:0042629)|plasma membrane (GO:0005886)	G-protein coupled adenosine receptor activity (GO:0001609)			NS(1)|breast(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)|skin(1)	12		all_cancers(81;1.63e-06)|all_epithelial(167;5.01e-06)|all_lung(203;8.02e-05)|Lung NSC(277;0.000156)		all cancers(265;0.0185)|Colorectal(144;0.0186)|Lung(183;0.0238)|COAD - Colon adenocarcinoma(174;0.0644)|Epithelial(280;0.0872)|LUSC - Lung squamous cell carcinoma(189;0.134)	Adenosine(DB00640)|Aminophylline(DB01223)|Enprofylline(DB00824)	ATCCAGGTGAGGAAGCTGAAG	0.423																																						ENST00000241356.4																			0				NS(1)|breast(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)|skin(1)	12						c.(547-549)Ctc>Ttc		adenosine A3 receptor	Adenosine(DB00640)|Aminophylline(DB01223)						155	143	147					1																	112042982		2203	4300	6503	SO:0001583	missense	140				activation of adenylate cyclase activity|inflammatory response|regulation of heart contraction	integral to plasma membrane	adenosine receptor activity, G-protein coupled	g.chr1:112042982G>A	BC029831	CCDS838.1, CCDS839.1, CCDS41369.1	1p13.2	2014-09-17			ENSG00000121933	ENSG00000121933		"GPCR / Class A : Adenosine receptors", "Immunoglobulin superfamily / V-set domain containing"	268	protein-coding gene	gene with protein product		600445				7607699	Standard	NM_020683		Approved	AD026	uc001ebf.3	P33765	OTTHUMG00000011957	ENST00000241356.4:c.547C>T	1.37:g.112042982G>A	ENSP00000241356:p.Leu183Phe					ADORA3_ENST00000369717.4_Intron|ADORA3_ENST00000369716.4_Intron	p.L183F	NM_000677.3	NP_000668.1	P33765	AA3R_HUMAN		all cancers(265;0.0185)|Colorectal(144;0.0186)|Lung(183;0.0238)|COAD - Colon adenocarcinoma(174;0.0644)|Epithelial(280;0.0872)|LUSC - Lung squamous cell carcinoma(189;0.134)	2	952	-		all_cancers(81;1.63e-06)|all_epithelial(167;5.01e-06)|all_lung(203;8.02e-05)|Lung NSC(277;0.000156)	183					A2A3P4|Q6UWU0|Q9BYZ1	Missense_Mutation	SNP	ENST00000241356.4	37	c.547C>T	CCDS839.1	.	.	.	.	.	.	.	.	.	.	G	0.076	-1.192863	0.01607	.	.	ENSG00000121933	ENST00000241356	T	0.73469	-0.75	5.01	-1.86	0.07760	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.14141	0.0342	N	0.02985	-0.445	0.25270	N	0.989529	B	0.02656	0.0	B	0.04013	0.001	T	0.16660	-1.0395	9	0.02654	T	1	.	2.0957	0.03667	0.5581:0.1203:0.2058:0.1158	.	183	P33765	AA3R_HUMAN	F	183	ENSP00000241356:L183F	ENSP00000241356:L183F	L	-	1	0	ADORA3	111844505	1.000000	0.71417	0.970000	0.41538	0.339000	0.28857	2.102000	0.41796	-0.556000	0.06134	-0.294000	0.09567	CTC		0.423	ADORA3-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033065.1	NM_000677, NM_020683		32	79	0	0	0	1	0	32	79					A	112042982	G	A	112042982	3	1	337	1	0	0	0	0	1	0	0	0	329	1000	35	3	1127	3	ADORA3	1	112042982	Missense_Mutation	SNP	G	TCGA-KK-A8I9-01A-11D-A364-08	75988904	112042982	137207639	2	17044											
ITGA10	8515	broad.mit.edu	37	chr1	145532146	145532146	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcagtcagtcccatgggggcCgacccgaggctgccaggcta	7	6	14	14	2	2	0	2	0	0	0	3	2	3	0	4	4	1	2	4	4	1	1			TCGA-KK-A8I9-01A-11D-A364-08	TCGA-KK-A8I9-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bebc84b6-9179-420b-8207-858b999e8c0c	50b1e243-b45a-42a1-8692-b7ae5d51250f	g.chr1:145532146C>T	ENST00000369304.3	+	8	965	c.790C>T	c.(790-792)Cga>Tga	p.R264*	ITGA10_ENST00000538811.1_Nonsense_Mutation_p.R133*|ITGA10_ENST00000539363.1_Nonsense_Mutation_p.R121*|ITGA10_ENST00000481236.1_3'UTR	NM_003637.3	NP_003628.2	O75578	ITA10_HUMAN	integrin, alpha 10	264	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)	integrin alpha10-beta1 complex (GO:0034680)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	collagen binding (GO:0005518)|collagen binding involved in cell-matrix adhesion (GO:0098639)|metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					CCATGGGGGCCGACCCGAGGC	0.547																																						ENST00000369304.3																			0				NS(1)|breast(2)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59						c.(790-792)Cga>Tga		integrin, alpha 10							90	91	90					1																	145532146		2203	4300	6503	SO:0001587	stop_gained	8515				cell-matrix adhesion|integrin-mediated signaling pathway	integrin complex	collagen binding|receptor activity	g.chr1:145532146C>T	AF074015	CCDS72869.1	1q21.1	2010-03-23			ENSG00000143127	ENSG00000143127		"Integrins"	6135	protein-coding gene	gene with protein product		604042				9685391, 10702680	Standard	NM_003637		Approved		uc001eoa.3	O75578	OTTHUMG00000013751	ENST00000369304.3:c.790C>T	1.37:g.145532146C>T	ENSP00000358310:p.Arg264*					ITGA10_ENST00000538811.1_Nonsense_Mutation_p.R133*|ITGA10_ENST00000481236.1_3'UTR|ITGA10_ENST00000539363.1_Nonsense_Mutation_p.R121*	p.R264*	NM_003637.3	NP_003628.2	O75578	ITA10_HUMAN			8	965	+	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		264			VWFA.		B2RAM4|B2RTV5|Q6UXJ6|Q9UHZ8	Nonsense_Mutation	SNP	ENST00000369304.3	37	c.790C>T	CCDS918.1	.	.	.	.	.	.	.	.	.	.	C	26.2	4.712684	0.89112	.	.	ENSG00000143127	ENST00000369304;ENST00000543043;ENST00000539363;ENST00000538811	.	.	.	5.2	4.28	0.50868	.	0.174265	0.37715	N	0.001963	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.3139	0.49379	0.3285:0.6714:0.0:0.0	.	.	.	.	X	264;230;121;133	.	ENSP00000358310:R264X	R	+	1	2	ITGA10	144243503	0.041000	0.20044	0.998000	0.56505	0.993000	0.82548	0.402000	0.20965	1.325000	0.45301	0.511000	0.50034	CGA		0.547	ITGA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038537.2	NM_003637		10	64	0	0	0	1	0	10	64					T	145532146	C	T	145532146	4	4	337	1	0	0	0	0	0	1	0	0	7873	644	23	2	820	2	ITGA10	1	145532146	Nonsense_Mutation	SNP	C	TCGA-KK-A8I9-01A-11D-A364-08	33489164	145532146	103718475	3	17045											
CD1D	912	broad.mit.edu	37	chr1	158151249	158151249	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cttcattctctcccagtcccGcaaaggcttttccccctccg	5	12	5	19	2	2	0	1	0	1	0	7	0	6	0	5	1	0	2	5	1	1	4			TCGA-KK-A8I9-01A-11D-A364-08	TCGA-KK-A8I9-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bebc84b6-9179-420b-8207-858b999e8c0c	50b1e243-b45a-42a1-8692-b7ae5d51250f	g.chr1:158151249G>A	ENST00000368171.3	+	3	565	c.66G>A	c.(64-66)ccG>ccA	p.P22P		NM_001766.3	NP_001757.1	P15813	CD1D_HUMAN	CD1d molecule	22					antigen processing and presentation, endogenous lipid antigen via MHC class Ib (GO:0048006)|detection of bacterium (GO:0016045)|heterotypic cell-cell adhesion (GO:0034113)|innate immune response (GO:0045087)|positive regulation of innate immune response (GO:0045089)|positive regulation of T cell proliferation (GO:0042102)|T cell selection (GO:0045058)|viral process (GO:0016032)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)	beta-2-microglobulin binding (GO:0030881)|cell adhesion molecule binding (GO:0050839)|exogenous lipid antigen binding (GO:0030884)|histone binding (GO:0042393)|lipid antigen binding (GO:0030882)|receptor activity (GO:0004872)			endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(1)|prostate(3)|urinary_tract(2)	30	all_hematologic(112;0.0378)					TCCCAGTCCCGCAAAGGCTTT	0.587																																						ENST00000368171.3																			0				endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(1)|prostate(3)|urinary_tract(2)	30						c.(64-66)ccG>ccA		CD1d molecule							210	235	227					1																	158151249		2203	4300	6503	SO:0001819	synonymous_variant	912				antigen processing and presentation, endogenous lipid antigen via MHC class Ib|detection of bacterium|innate immune response|interspecies interaction between organisms|positive regulation of innate immune response|T cell selection	endosome membrane|integral to plasma membrane|lysosomal membrane	beta-2-microglobulin binding|exogenous lipid antigen binding|histone binding	g.chr1:158151249G>A	BC027926	CCDS1173.1	1q23.1	2014-01-14	2006-03-28		ENSG00000158473	ENSG00000158473		"CD molecules", "Immunoglobulin superfamily / C1-set domain containing"	1637	protein-coding gene	gene with protein product		188410	"CD1D antigen, d polypeptide", "CD1d antigen"			2463622	Standard	NM_001766		Approved		uc001frr.3	P15813	OTTHUMG00000022436	ENST00000368171.3:c.66G>A	1.37:g.158151249G>A							p.P22P	NM_001766.3	NP_001757.1	P15813	CD1D_HUMAN			3	565	+	all_hematologic(112;0.0378)		22					D3DVD5|Q5W0J3|Q9UMM3|Q9Y5M4	Silent	SNP	ENST00000368171.3	37	c.66G>A	CCDS1173.1																																																																																				0.587	CD1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058340.1	NM_001766		4	270	0	0	0	1	0	4	270					A	158151249	G	A	158151249	2	1	337	1	0	0	0	0	0	0	0	1	2977	1074	38	1		1	CD1D	1	158151249	Silent	SNP	G	TCGA-KK-A8I9-01A-11D-A364-08	12619103	158151249	91099372	4	17046											
GLUL	2752	broad.mit.edu	37	chr1	182355539	182355539	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtgtgcctcaaattggtctcTagaaaaaagagtcaataata	16	11	8	6	0	3	2	2	0	1	2	4	2	3	2	1	1	1	0	1	1	8	4			TCGA-KK-A8I9-01A-11D-A364-08	TCGA-KK-A8I9-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bebc84b6-9179-420b-8207-858b999e8c0c	50b1e243-b45a-42a1-8692-b7ae5d51250f	g.chr1:182355539T>C	ENST00000331872.6	-	4	869		c.e4-2		GLUL_ENST00000491322.1_5'UTR|GLUL_ENST00000339526.4_Splice_Site|GLUL_ENST00000311223.5_Splice_Site|GLUL_ENST00000417584.2_Splice_Site	NM_001033044.2	NP_001028216.1	P15104	GLNA_HUMAN	glutamate-ammonia ligase						cell proliferation (GO:0008283)|cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to starvation (GO:0009267)|glutamate catabolic process (GO:0006538)|glutamine biosynthetic process (GO:0006542)|neurotransmitter uptake (GO:0001504)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of insulin secretion (GO:0032024)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|protein homooligomerization (GO:0051260)|response to glucose (GO:0009749)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	axon terminus (GO:0043679)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|glial cell projection (GO:0097386)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perikaryon (GO:0043204)|protein complex (GO:0043234)|rough endoplasmic reticulum (GO:0005791)	ATP binding (GO:0005524)|glutamate binding (GO:0016595)|glutamate decarboxylase activity (GO:0004351)|glutamate-ammonia ligase activity (GO:0004356)|identical protein binding (GO:0042802)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)			endometrium(2)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(1)	16					Ceftriaxone(DB01212)|Diazoxide(DB01119)|L-Glutamine(DB00130)|L-Methionine(DB00134)|Pegvisomant(DB00082)	AATTGGTCTCTAGAAAAAAGA	0.463																																						ENST00000311223.5																			0				endometrium(2)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(1)	16						c.e5-2		glutamate-ammonia ligase	Asparaginase(DB00023)|L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)|L-Methionine(DB00134)						119	121	121					1																	182355539		2203	4300	6503	SO:0001630	splice_region_variant	2752				cell proliferation|glutamine biosynthetic process|neurotransmitter uptake	cytosol|Golgi apparatus|mitochondrion	ATP binding|glutamate decarboxylase activity|glutamate-ammonia ligase activity|identical protein binding	g.chr1:182355539T>C	AL161952	CCDS1344.1	1q31	2010-05-04	2010-05-04		ENSG00000135821	ENSG00000135821	6.3.1.2		4341	protein-coding gene	gene with protein product	"glutamine synthetase"	138290	"glutamate-ammonia ligase (glutamine synthase)"	GLNS		1681907, 2888076	Standard	NM_002065		Approved		uc001gpa.2	P15104	OTTHUMG00000037407	ENST00000331872.6:c.329-2A>G	1.37:g.182355539T>C						GLUL_ENST00000491322.1_5'UTR|GLUL_ENST00000417584.2_Splice_Site|GLUL_ENST00000339526.4_Splice_Site|GLUL_ENST00000331872.6_Splice_Site		NM_002065.5	NP_002056.2	P15104	GLNA_HUMAN			5	1225	-								Q499Y9|Q5T9Z1|Q7Z3W4|Q8IZ17	Splice_Site	SNP	ENST00000331872.6	37		CCDS1344.1	.	.	.	.	.	.	.	.	.	.	T	14.68	2.607078	0.46527	.	.	ENSG00000135821	ENST00000331872;ENST00000311223;ENST00000417584;ENST00000339526;ENST00000435013	.	.	.	5.0	3.79	0.43588	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.5493	0.45079	0.1443:0.0:0.0:0.8557	.	.	.	.	.	-1	.	.	.	-	.	.	GLUL	180622162	1.000000	0.71417	0.948000	0.38648	0.805000	0.45488	7.576000	0.82467	1.985000	0.57927	0.533000	0.62120	.		0.463	GLUL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091043.1	NM_002065	Intron	22	90	0	0	0	1	0	22	90					C	182355539	T	C	182355539	5	2	337	1	0	0	0	0	0	0	1	0	6478	1536	53	4	810	4	GLUL	1	182355539	Splice_Site	SNP	T	TCGA-KK-A8I9-01A-11D-A364-08	24204290	182355539	66895082	5	17047											
PTGS2	5743	broad.mit.edu	37	chr1	186648244	186648244	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gaagggaatgttattcacaaCgttccaaaatcccttgaagt	14	11	8	8	1	1	1	1	1	0	0	3	3	3	2	2	1	1	2	2	1	7	4			TCGA-KK-A8I9-01A-11D-A364-08	TCGA-KK-A8I9-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bebc84b6-9179-420b-8207-858b999e8c0c	50b1e243-b45a-42a1-8692-b7ae5d51250f	g.chr1:186648244C>T	ENST00000367468.5	-	3	395	c.259G>A	c.(259-261)Gtt>Att	p.V87I	RP5-973M2.2_ENST00000608917.1_lincRNA|PTGS2_ENST00000490885.2_5'UTR	NM_000963.2	NP_000954.1	P35354	PGH2_HUMAN	prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase)	87					anagen (GO:0042640)|angiogenesis (GO:0001525)|arachidonic acid metabolic process (GO:0019369)|bone mineralization (GO:0030282)|brown fat cell differentiation (GO:0050873)|cellular component movement (GO:0006928)|cellular response to ATP (GO:0071318)|cellular response to hypoxia (GO:0071456)|cellular response to mechanical stimulus (GO:0071260)|cellular response to UV (GO:0034644)|cyclooxygenase pathway (GO:0019371)|decidualization (GO:0046697)|embryo implantation (GO:0007566)|inflammatory response (GO:0006954)|learning (GO:0007612)|lipoxygenase pathway (GO:0019372)|maintenance of blood-brain barrier (GO:0035633)|memory (GO:0007613)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell proliferation (GO:0008285)|negative regulation of smooth muscle contraction (GO:0045986)|negative regulation of synaptic transmission, dopaminergic (GO:0032227)|ovulation (GO:0030728)|positive regulation of apoptotic process (GO:0043065)|positive regulation of brown fat cell differentiation (GO:0090336)|positive regulation of cell migration involved in sprouting angiogenesis (GO:0090050)|positive regulation of fever generation (GO:0031622)|positive regulation of fibroblast growth factor production (GO:0090271)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of platelet-derived growth factor production (GO:0090362)|positive regulation of prostaglandin biosynthetic process (GO:0031394)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of synaptic plasticity (GO:0031915)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transforming growth factor beta production (GO:0071636)|positive regulation of vasoconstriction (GO:0045907)|positive regulation vascular endothelial growth factor production (GO:0010575)|prostaglandin biosynthetic process (GO:0001516)|prostaglandin metabolic process (GO:0006693)|regulation of blood pressure (GO:0008217)|regulation of inflammatory response (GO:0050727)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to fatty acid (GO:0070542)|response to fructose (GO:0009750)|response to glucocorticoid (GO:0051384)|response to lipopolysaccharide (GO:0032496)|response to lithium ion (GO:0010226)|response to manganese ion (GO:0010042)|response to oxidative stress (GO:0006979)|response to tumor necrosis factor (GO:0034612)|response to vitamin D (GO:0033280)|sensory perception of pain (GO:0019233)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|neuron projection (GO:0043005)|nucleus (GO:0005634)|protein complex (GO:0043234)	arachidonate 15-lipoxygenase activity (GO:0050473)|enzyme binding (GO:0019899)|heme binding (GO:0020037)|lipid binding (GO:0008289)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)|prostaglandin-endoperoxide synthase activity (GO:0004666)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	27					Acetaminophen(DB00316)|Acetylsalicylic acid(DB00945)|Aldesleukin(DB00041)|Aminosalicylic Acid(DB00233)|Antipyrine(DB01435)|Antrafenine(DB01419)|Balsalazide(DB01014)|Bromfenac(DB00963)|Bumetanide(DB00887)|Carprofen(DB00821)|Celecoxib(DB00482)|Chlorphenesin(DB00856)|Cisplatin(DB00515)|Clodronate(DB00720)|Dapsone(DB00250)|Desmopressin(DB00035)|Diclofenac(DB00586)|Diflunisal(DB00861)|Dihomo-gamma-linolenic acid(DB00154)|Drospirenone(DB01395)|Etanercept(DB00005)|Etodolac(DB00749)|Etoposide(DB00773)|Etoricoxib(DB01628)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|Ginseng(DB01404)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lenalidomide(DB00480)|Lornoxicam(DB06725)|Lumiracoxib(DB01283)|Magnesium salicylate(DB01397)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mesalazine(DB00244)|Nabumetone(DB00461)|Naproxen(DB00788)|Nepafenac(DB06802)|Niflumic Acid(DB04552)|Nonoxynol-9(DB06804)|Oxaprozin(DB00991)|Phenylbutazone(DB00812)|Piroxicam(DB00554)|Pomalidomide(DB08910)|Risedronate(DB00884)|Salicylate-sodium(DB01398)|Salicylic acid(DB00936)|Salsalate(DB01399)|Sulfasalazine(DB00795)|Sulindac(DB00605)|Suprofen(DB00870)|Tafluprost(DB08819)|Tenoxicam(DB00469)|Tetrahydrobiopterin(DB00360)|Thalidomide(DB01041)|Tiaprofenic acid(DB01600)|Tolmetin(DB00500)|Triamcinolone(DB00620)|Trisalicylate-choline(DB01401)	TTATTCACAACGTTCCAAAAT	0.358																																						ENST00000367468.5																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	27						c.(259-261)Gtt>Att		prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase)	Acetaminophen(DB00316)|Aspirin(DB00945)|Balsalazide(DB01014)|Bromfenac(DB00963)|Carprofen(DB00821)|Celecoxib(DB00482)|Ciclopirox(DB01188)|Diclofenac(DB00586)|Diflunisal(DB00861)|Epoprostenol(DB01240)|Etodolac(DB00749)|Etoricoxib(DB01628)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|gamma-Homolinolenic acid(DB00154)|Ginseng(DB01404)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lenalidomide(DB00480)|Lumiracoxib(DB01283)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mesalazine(DB00244)|Nabumetone(DB00461)|Naproxen(DB00788)|Oxaprozin(DB00991)|Phenylbutazone(DB00812)|Rofecoxib(DB00533)|Salicyclic acid(DB00936)|Salsalate(DB01399)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Thalidomide(DB01041)|Tiaprofenic acid(DB01600)|Tolmetin(DB00500)|Valdecoxib(DB00580)						88	87	87					1																	186648244		2203	4300	6503	SO:0001583	missense	5743				cellular component movement|cyclooxygenase pathway|hormone biosynthetic process|positive regulation of brown fat cell differentiation|positive regulation of cell migration involved in sprouting angiogenesis|positive regulation of fever generation|positive regulation of fibroblast growth factor production|positive regulation of nitric oxide biosynthetic process|positive regulation of platelet-derived growth factor production|positive regulation of prostaglandin biosynthetic process|positive regulation of transforming growth factor-beta production|positive regulation vascular endothelial growth factor production|regulation of blood pressure|response to oxidative stress|xenobiotic metabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|microsome|neuron projection|nucleus	enzyme binding|heme binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peroxidase activity|prostaglandin-endoperoxide synthase activity	g.chr1:186648244C>T	D28235	CCDS1371.1	1q25.2-q25.3	2008-02-05			ENSG00000073756	ENSG00000073756	1.14.99.1		9605	protein-coding gene	gene with protein product		600262				1380156	Standard	NM_000963		Approved	COX2	uc001gsb.3	P35354	OTTHUMG00000035473	ENST00000367468.5:c.259G>A	1.37:g.186648244C>T	ENSP00000356438:p.Val87Ile					PTGS2_ENST00000490885.2_5'UTR	p.V87I	NM_000963.2	NP_000954.1	P35354	PGH2_HUMAN			3	395	-			87					A8K802|Q16876	Missense_Mutation	SNP	ENST00000367468.5	37	c.259G>A	CCDS1371.1	.	.	.	.	.	.	.	.	.	.	C	1.259	-0.616254	0.03663	.	.	ENSG00000073756	ENST00000367468	T	0.62232	0.04	5.93	2.39	0.29439	.	0.090292	0.64402	N	0.000001	T	0.18087	0.0434	N	0.00275	-1.725	0.29162	N	0.877729	B	0.02656	0.0	B	0.04013	0.001	T	0.37314	-0.9711	10	0.02654	T	1	-14.7877	6.104	0.20063	0.1209:0.1315:0.0:0.7476	.	87	P35354	PGH2_HUMAN	I	87	ENSP00000356438:V87I	ENSP00000356438:V87I	V	-	1	0	PTGS2	184914867	1.000000	0.71417	0.851000	0.33527	0.383000	0.30230	3.305000	0.51873	0.160000	0.19432	-1.093000	0.02169	GTT		0.358	PTGS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086157.2	NM_000963		12	63	0	0	0	1	0	12	63					T	186648244	C	T	186648244	3	4	337	1	0	0	0	0	1	0	0	0	12756	536	19	1	1587	1	PTGS2	1	186648244	Missense_Mutation	SNP	C	TCGA-KK-A8I9-01A-11D-A364-08	4292705	186648244	62602377	6	17048											
PLXNA2	5362	broad.mit.edu	37	chr1	208218421	208218421	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctcactcaccatgaccttGtgctgcccggtgaggttggg	5	10	14	12	1	2	2	2	2	0	0	2	2	2	2	3	4	2	3	3	4	0	2	rs543030636		TCGA-KK-A8I9-01A-11D-A364-08	TCGA-KK-A8I9-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bebc84b6-9179-420b-8207-858b999e8c0c	50b1e243-b45a-42a1-8692-b7ae5d51250f	g.chr1:208218421G>C	ENST00000367033.3	-	19	4387	c.3630C>G	c.(3628-3630)caC>caG	p.H1210Q		NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN	plexin A2	1210	IPT/TIG 4.				axon guidance (GO:0007411)|centrosome localization (GO:0051642)|cerebellar granule cell precursor tangential migration (GO:0021935)|limb bud formation (GO:0060174)|neural tube development (GO:0021915)|pharyngeal system development (GO:0060037)|regulation of cell migration (GO:0030334)|semaphorin-plexin signaling pathway (GO:0071526)|somitogenesis (GO:0001756)	integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80				OV - Ovarian serous cystadenocarcinoma(81;0.199)		CCATGACCTTGTGCTGCCCGG	0.567																																						ENST00000367033.3																			0				NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80						c.(3628-3630)caC>caG		plexin A2							113	93	99					1																	208218421		2203	4300	6503	SO:0001583	missense	5362				axon guidance	integral to membrane|intracellular|plasma membrane		g.chr1:208218421G>C	X87831	CCDS31013.1	1q32.2	2008-07-18			ENSG00000076356	ENSG00000076356		"Plexins"	9100	protein-coding gene	gene with protein product	"plexin 2", "plexin-A2", "semaphorin receptor OCT", "transmembrane protein OCT"	601054		PLXN2		8570614	Standard	NM_025179		Approved	OCT, FLJ11751, FLJ30634, KIAA0463	uc001hgz.3	O75051	OTTHUMG00000036564	ENST00000367033.3:c.3630C>G	1.37:g.208218421G>C	ENSP00000356000:p.His1210Gln						p.H1210Q	NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.199)	19	4387	-			1210			IPT/TIG 4.		A2RTX9|B2RMX7|Q6UX61|Q96GN9|Q9BRL1|Q9UIW1	Missense_Mutation	SNP	ENST00000367033.3	37	c.3630C>G	CCDS31013.1	.	.	.	.	.	.	.	.	.	.	G	11.07	1.531355	0.27387	.	.	ENSG00000076356	ENST00000367033	T	0.77358	-1.09	5.22	4.31	0.51392	Cell surface receptor IPT/TIG (2);Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.106321	0.64402	D	0.000003	T	0.65554	0.2702	L	0.37750	1.13	0.51012	D	0.999903	B	0.23990	0.095	B	0.23574	0.047	T	0.57648	-0.7775	10	0.17832	T	0.49	.	9.8414	0.41002	0.155:0.0:0.845:0.0	.	1210	O75051	PLXA2_HUMAN	Q	1210	ENSP00000356000:H1210Q	ENSP00000356000:H1210Q	H	-	3	2	PLXNA2	206285044	1.000000	0.71417	1.000000	0.80357	0.777000	0.43975	5.438000	0.66550	1.202000	0.43218	0.563000	0.77884	CAC		0.567	PLXNA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088932.6	NM_025179		12	30	0	0	0	1	0	12	30					C	208218421	G	C	208218421	3	2	337	1	0	0	0	0	1	0	0	0	12120	1368	48	5	2110	5	PLXNA2	1	208218421	Missense_Mutation	SNP	G	TCGA-KK-A8I9-01A-11D-A364-08	21570177	208218421	41032200	7	17049											
CRYGC	1420	broad.mit.edu	37	chr2	208994307	208994307	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tccagcagccgctctccaccCggatggagttgcagcggctg	6	7	13	15	3	1	0	0	0	1	0	3	2	2	2	4	3	4	5	4	3	0	1	rs140859599	byFrequency	TCGA-KK-A8I9-01A-11D-A364-08	TCGA-KK-A8I9-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bebc84b6-9179-420b-8207-858b999e8c0c	50b1e243-b45a-42a1-8692-b7ae5d51250f	g.chr2:208994307C>T	ENST00000282141.3	-	2	147	c.110G>A	c.(109-111)cGg>cAg	p.R37Q		NM_020989.3	NP_066269.1	P07315	CRGC_HUMAN	crystallin, gamma C	37	Beta/gamma crystallin 'Greek key' 1. {ECO:0000255|PROSITE-ProRule:PRU00028}.				camera-type eye development (GO:0043010)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	structural constituent of eye lens (GO:0005212)			NS(1)|endometrium(1)|large_intestine(2)|lung(5)	9				LUSC - Lung squamous cell carcinoma(261;0.0703)|Epithelial(149;0.0858)|Lung(261;0.133)		GCTCTCCACCCGGATGGAGTT	0.587													C|||	6	0.00119808	8e-04	0.0058	5008	,	,		972	0.001		0	False		,,,				2504	0					ENST00000282141.3																			0				NS(1)|endometrium(1)|large_intestine(2)|lung(5)	9						c.(109-111)cGg>cAg		crystallin, gamma C		C	GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	85	93	90		110	5	0.3	2	dbSNP_134	90	0,8600		0,0,4300	yes	missense	CRYGC	NM_020989.3	43	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	37/175	208994307	1,13005	2203	4300	6503	SO:0001583	missense	1420				visual perception	cytoplasm|nucleus	protein binding|structural constituent of eye lens	g.chr2:208994307C>T		CCDS2379.1	2q33.3	2013-02-14			ENSG00000163254	ENSG00000163254			2410	protein-coding gene	gene with protein product		123680		CRYG3			Standard	NM_020989		Approved		uc002vco.4	P07315	OTTHUMG00000132942	ENST00000282141.3:c.110G>A	2.37:g.208994307C>T	ENSP00000282141:p.Arg37Gln						p.R37Q	NM_020989.3	NP_066269.1	P07315	CRGC_HUMAN		LUSC - Lung squamous cell carcinoma(261;0.0703)|Epithelial(149;0.0858)|Lung(261;0.133)	2	147	-			37			Beta/gamma crystallin 'Greek key' 1.		Q53R50	Missense_Mutation	SNP	ENST00000282141.3	37	c.110G>A	CCDS2379.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	19.06	3.754629	0.69648	2.27E-4	0.0	ENSG00000163254	ENST00000282141	T	0.78481	-1.18	4.98	4.98	0.66077	Beta/gamma crystallin (4);Gamma-crystallin-related (1);	0.064020	0.64402	D	0.000011	D	0.86686	0.5992	M	0.69823	2.125	0.58432	D	0.999995	D	0.76494	0.999	D	0.68353	0.957	D	0.88235	0.2906	10	0.87932	D	0	.	16.1101	0.81259	0.0:1.0:0.0:0.0	.	37	P07315	CRGC_HUMAN	Q	37	ENSP00000282141:R37Q	ENSP00000282141:R37Q	R	-	2	0	CRYGC	208702552	0.093000	0.21703	0.310000	0.25168	0.038000	0.13279	0.666000	0.25097	2.468000	0.83385	0.462000	0.41574	CGG		0.587	CRYGC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256474.1	NM_020989		4	151	0	0	0	1	0	4	151					T	208994307	C	T	208994307	3	4	337	1	0	0	0	0	1	0	0	0	3916	652	23	2	422	2	CRYGC	2	208994307	Missense_Mutation	SNP	C	TCGA-KK-A8I9-01A-11D-A364-08		208994307	34205066	8	17050											
GOLGB1	2804	broad.mit.edu	37	chr3	121417402	121417402	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccagcatcatttaaagatatTtcctcagatgttctactttg	11	16	5	9	0	3	2	2	0	1	2	4	2	4	2	2	0	2	2	2	0	4	7			TCGA-KK-A8I9-01A-11D-A364-08	TCGA-KK-A8I9-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bebc84b6-9179-420b-8207-858b999e8c0c	50b1e243-b45a-42a1-8692-b7ae5d51250f	g.chr3:121417402T>G	ENST00000340645.5	-	13	2078	c.1953A>C	c.(1951-1953)gaA>gaC	p.E651D	GOLGB1_ENST00000393667.3_Missense_Mutation_p.E656D	NM_001256487.1|NM_001256488.1|NM_004487.4	NP_001243416.1|NP_001243417.1|NP_004478.3	Q14789	GOGB1_HUMAN	golgin B1	651					Golgi organization (GO:0007030)	cis-Golgi network (GO:0005801)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		TTAAAGATATTTCCTCAGATG	0.408																																						ENST00000393667.3																			0				NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119						c.(1966-1968)gaA>gaC		golgin B1							97	99	98					3																	121417402		2203	4299	6502	SO:0001583	missense	2804				Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding	g.chr3:121417402T>G	X75304	CCDS3004.1, CCDS58847.1, CCDS74989.1	3q13	2010-02-12	2010-02-12	2007-07-27	ENSG00000173230	ENSG00000173230			4429	protein-coding gene	gene with protein product	"macrogolgin", "golgi integral membrane protein 1"	602500	"golgi autoantigen, golgin subfamily b, macrogolgin (with transmembrane signal), 1", "golgin B1, golgi integral membrane protein"			7691276, 15004235	Standard	NM_001256486		Approved	GCP, GCP372, giantin, GOLIM1	uc010hrc.4	Q14789	OTTHUMG00000159411	ENST00000340645.5:c.1953A>C	3.37:g.121417402T>G	ENSP00000341848:p.Glu651Asp					GOLGB1_ENST00000340645.5_Missense_Mutation_p.E651D	p.E656D	NM_001256486.1	NP_001243415.1	Q14789	GOGB1_HUMAN		GBM - Glioblastoma multiforme(114;0.0989)	13	2078	-			651					B2ZZ91|D3DN92|E7EP74|Q14398	Missense_Mutation	SNP	ENST00000340645.5	37	c.1968A>C	CCDS3004.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	2.271|2.271	-0.367076|-0.367076	0.05069|0.05069	.|.	.|.	ENSG00000173230|ENSG00000173230	ENST00000340645;ENST00000393667;ENST00000494517;ENST00000426235|ENST00000489400	T;T;T|.	0.25579|.	2.39;2.39;1.79|.	5.19|5.19	-0.358|-0.358	0.12575|0.12575	.|.	0.488251|.	0.20738|.	N|.	0.086582|.	T|T	0.34221|0.34221	0.0890|0.0890	L|L	0.46157|0.46157	1.445|1.445	0.09310|0.09310	N|N	1|1	B;P;B;B;B|.	0.38504|.	0.003;0.634;0.003;0.287;0.003|.	B;B;B;B;B|.	0.33620|.	0.004;0.167;0.006;0.116;0.004|.	T|T	0.30387|0.30387	-0.9980|-0.9980	10|5	0.21014|.	T|.	0.42|.	.|.	4.0102|4.0102	0.09619|0.09619	0.2599:0.1555:0.0:0.5846|0.2599:0.1555:0.0:0.5846	.|.	576;615;656;656;651|.	F1T0J2;E7EU81;E7EP74;B2ZZ91;Q14789|.	.;.;.;.;GOGB1_HUMAN|.	D|T	651;656;615;463|522	ENSP00000341848:E651D;ENSP00000377275:E656D;ENSP00000418231:E615D|.	ENSP00000341848:E651D|.	E|K	-|-	3|2	2|0	GOLGB1|GOLGB1	122900092|122900092	0.005000|0.005000	0.15991|0.15991	0.007000|0.007000	0.13788|0.13788	0.194000|0.194000	0.23727|0.23727	0.681000|0.681000	0.25320|0.25320	0.055000|0.055000	0.16094|0.16094	-0.336000|-0.336000	0.08194|0.08194	GAA|AAA		0.408	GOLGB1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000355159.1	NM_004487		22	79	0	0	0	1	0	22	79					G	121417402	T	G	121417402	3	3	337	1	0	0	0	0	1	0	0	0	6565	1838	64	5	7866	5	GOLGB1	3	121417402	Missense_Mutation	SNP	T	TCGA-KK-A8I9-01A-11D-A364-08		121417402	76605028	9	17051											
EPHB3	2049	broad.mit.edu	37	chr3	184294719	184294719	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agccccgggacctgggtggcCgggatgacctcctgtacaat	7	7	14	13	2	0	1	0	1	0	0	1	3	1	3	6	4	2	1	6	4	2	1			TCGA-KK-A8I9-01A-11D-A364-08	TCGA-KK-A8I9-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bebc84b6-9179-420b-8207-858b999e8c0c	50b1e243-b45a-42a1-8692-b7ae5d51250f	g.chr3:184294719C>T	ENST00000330394.2	+	5	1554	c.1102C>T	c.(1102-1104)Cgg>Tgg	p.R368W	EIF2B5_ENST00000444495.1_Intron	NM_004443.3	NP_004434.2	P54753	EPHB3_HUMAN	EPH receptor B3	368	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|cell migration (GO:0016477)|central nervous system projection neuron axonogenesis (GO:0021952)|corpus callosum development (GO:0022038)|dendritic spine development (GO:0060996)|dendritic spine morphogenesis (GO:0060997)|digestive tract morphogenesis (GO:0048546)|ephrin receptor signaling pathway (GO:0048013)|palate development (GO:0060021)|positive regulation of synapse assembly (GO:0051965)|protein autophosphorylation (GO:0046777)|regulation of axonogenesis (GO:0050770)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell-cell adhesion (GO:0022407)|regulation of Rac GTPase activity (GO:0032314)|retinal ganglion cell axon guidance (GO:0031290)|substrate adhesion-dependent cell spreading (GO:0034446)|thymus development (GO:0048538)|urogenital system development (GO:0001655)	cell projection (GO:0042995)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|ephrin receptor activity (GO:0005003)			breast(5)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_cancers(143;1.89e-10)|Ovarian(172;0.0339)		Epithelial(37;1.27e-34)|OV - Ovarian serous cystadenocarcinoma(80;3.8e-22)			CCTGGGTGGCCGGGATGACCT	0.587																																						ENST00000330394.2																			0				breast(5)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	51						c.(1102-1104)Cgg>Tgg		EPH receptor B3							106	107	107					3																	184294719		2203	4300	6503	SO:0001583	missense	2049					integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr3:184294719C>T	X75208	CCDS3268.1	3q27.1	2013-09-19	2004-10-28		ENSG00000182580	ENSG00000182580		"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3394	protein-coding gene	gene with protein product		601839	"EphB3"	ETK2		8397371	Standard	NM_004443		Approved	Hek2, Tyro6	uc003foz.3	P54753	OTTHUMG00000156710	ENST00000330394.2:c.1102C>T	3.37:g.184294719C>T	ENSP00000332118:p.Arg368Trp					EIF2B5_ENST00000444495.1_Intron	p.R368W	NM_004443.3	NP_004434.2	P54753	EPHB3_HUMAN	Epithelial(37;1.27e-34)|OV - Ovarian serous cystadenocarcinoma(80;3.8e-22)		5	1554	+	all_cancers(143;1.89e-10)|Ovarian(172;0.0339)		368			Fibronectin type-III 1.		Q7Z740	Missense_Mutation	SNP	ENST00000330394.2	37	c.1102C>T	CCDS3268.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.203010	0.79127	.	.	ENSG00000182580	ENST00000330394	T	0.58797	0.31	5.17	5.17	0.71159	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.83926	0.5360	H	0.96365	3.81	0.80722	D	1	D	0.89917	1.0	D	0.77004	0.989	D	0.89186	0.3547	10	0.87932	D	0	.	18.0153	0.89238	0.0:1.0:0.0:0.0	.	368	P54753	EPHB3_HUMAN	W	368	ENSP00000332118:R368W	ENSP00000332118:R368W	R	+	1	2	EPHB3	185777413	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	3.136000	0.50554	2.565000	0.86533	0.448000	0.29417	CGG		0.587	EPHB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345413.1	NM_004443		4	122	0	0	0	1	0	4	122					T	184294719	C	T	184294719	3	4	337	1	0	0	0	0	1	0	0	0	5176	643	23	2	1120	2	EPHB3	3	184294719	Missense_Mutation	SNP	C	TCGA-KK-A8I9-01A-11D-A364-08	62877317	184294719	13727711	10	17052											
SH3BP2	6452	broad.mit.edu	37	chr4	2822436	2822436	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tgggggcgtggccaaggctgGctacctgcacaagaagggcg	8	5	18	10	2	0	1	0	0	0	1	0	1	0	1	2	6	2	3	2	6	4	1			TCGA-KK-A8I9-01A-11D-A364-08	TCGA-KK-A8I9-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bebc84b6-9179-420b-8207-858b999e8c0c	50b1e243-b45a-42a1-8692-b7ae5d51250f	g.chr4:2822436G>C	ENST00000356331.5	+	2	353	c.92G>C	c.(91-93)gGc>gCc	p.G31A	SH3BP2_ENST00000389838.2_Missense_Mutation_p.G31A|SH3BP2_ENST00000442312.2_Missense_Mutation_p.G59A|SH3BP2_ENST00000503393.2_Missense_Mutation_p.G88A|SH3BP2_ENST00000511747.1_Missense_Mutation_p.G31A|SH3BP2_ENST00000435136.2_Missense_Mutation_p.G31A|SH3BP2_ENST00000452765.2_Missense_Mutation_p.G31A	NM_003023.4	NP_003014.3	P78314	3BP2_HUMAN	SH3-domain binding protein 2	31	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				positive regulation of signal transduction (GO:0009967)|signal transduction (GO:0007165)		SH3/SH2 adaptor activity (GO:0005070)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	20				UCEC - Uterine corpus endometrioid carcinoma (64;0.164)		GCCAAGGCTGGCTACCTGCAC	0.617									Cherubism																													ENST00000442312.2																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	20						c.(175-177)gGc>gCc		SH3-domain binding protein 2							63	60	61					4																	2822436		2203	4300	6503	SO:0001583	missense	6452	Cherubism	Familial Cancer Database	Familial Benign Giant-cell Tumor of the Jaw, Familial Multilocular Cystic Disease	signal transduction		SH3 domain binding|SH3/SH2 adaptor activity	g.chr4:2822436G>C	BC022996	CCDS33944.1, CCDS54715.1, CCDS54716.1	4p16.3	2013-02-14				ENSG00000087266		"Pleckstrin homology (PH) domain containing", "SH2 domain containing"	10825	protein-coding gene	gene with protein product		602104	"Cherubism"			9299232, 11381256	Standard	NM_003023		Approved	RES4-23, CRBM	uc003gfj.4	P78314		ENST00000356331.5:c.92G>C	4.37:g.2822436G>C	ENSP00000348685:p.Gly31Ala					SH3BP2_ENST00000435136.2_Missense_Mutation_p.G31A|SH3BP2_ENST00000389838.2_Missense_Mutation_p.G31A|SH3BP2_ENST00000503393.2_Missense_Mutation_p.G88A|SH3BP2_ENST00000452765.2_Missense_Mutation_p.G31A|SH3BP2_ENST00000356331.5_Missense_Mutation_p.G31A|SH3BP2_ENST00000511747.1_Missense_Mutation_p.G31A	p.G59A	NM_001145855.1	NP_001139327.1	P78314	3BP2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.164)	2	355	+			31			PH.		A6NNC2|B2R5R6|B4DT04|D3DVR0|D6R919|O00500|O15373|P78315	Missense_Mutation	SNP	ENST00000356331.5	37	c.176G>C	CCDS33944.1	.	.	.	.	.	.	.	.	.	.	G	24.9	4.580243	0.86645	.	.	ENSG00000087266	ENST00000452765;ENST00000389838;ENST00000503219;ENST00000504294;ENST00000508385;ENST00000512014;ENST00000513095;ENST00000442312;ENST00000502260;ENST00000435136;ENST00000511747;ENST00000503393;ENST00000356331	T;T;T;T;T;T;T;T;T;T;T;T;T	0.73897	-0.79;-0.79;-0.79;-0.79;-0.79;-0.79;-0.79;-0.79;-0.79;-0.79;-0.79;-0.79;-0.79	5.14	4.26	0.50523	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.85682	D	0.000000	D	0.86138	0.5861	M	0.82132	2.575	0.53688	D	0.999976	D;D;D;D	0.89917	1.0;1.0;0.974;0.974	D;D;P;P	0.97110	1.0;0.999;0.807;0.807	D	0.88316	0.2959	10	0.87932	D	0	-32.3651	15.3096	0.74019	0.0:0.1402:0.8598:0.0	.	59;59;88;31	B4DT04;B7Z9B6;D6R919;P78314	.;.;.;3BP2_HUMAN	A	31;31;31;31;31;31;31;59;31;31;31;88;31	ENSP00000409746:G31A;ENSP00000374488:G31A;ENSP00000422796:G31A;ENSP00000423275:G31A;ENSP00000424917:G31A;ENSP00000424105:G31A;ENSP00000423823:G31A;ENSP00000388152:G59A;ENSP00000425537:G31A;ENSP00000403231:G31A;ENSP00000424846:G31A;ENSP00000422168:G88A;ENSP00000348685:G31A	ENSP00000348685:G31A	G	+	2	0	SH3BP2	2792234	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.001000	0.76297	2.408000	0.81797	0.491000	0.48974	GGC		0.617	SH3BP2-007	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000362406.2	NM_003023		5	47	0	0	0	1	0	5	47					C	2822436	G	C	2822436	3	2	337	1	0	0	0	0	1	0	0	0	14245	1203	42	5	353	5	SH3BP2	4	2822436	Missense_Mutation	SNP	G	TCGA-KK-A8I9-01A-11D-A364-08		2822436	188331840	11	17053											
NIPAL1	152519	broad.mit.edu	37	chr4	48027157	48027157	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacaaatgtgtcacagctgcTggcttctcctgtgctctaca	8	12	8	13	0	3	0	1	0	2	0	4	0	3	0	1	1	4	4	1	1	2	2	rs377672607		TCGA-KK-A8I9-01A-11D-A364-08	TCGA-KK-A8I9-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bebc84b6-9179-420b-8207-858b999e8c0c	50b1e243-b45a-42a1-8692-b7ae5d51250f	g.chr4:48027157T>A	ENST00000295461.5	+	2	185	c.119T>A	c.(118-120)cTg>cAg	p.L40Q	NIPAL1_ENST00000508180.1_3'UTR	NM_207330.1	NP_997213.1	Q6NVV3	NIPA3_HUMAN	NIPA-like domain containing 1	40						integral component of membrane (GO:0016021)	magnesium ion transmembrane transporter activity (GO:0015095)			endometrium(2)|large_intestine(1)|lung(3)|skin(2)	8						TCACAGCTGCTGGCTTCTCCT	0.438																																						ENST00000295461.5																			0				endometrium(2)|large_intestine(1)|lung(3)|skin(2)	8						c.(118-120)cTg>cAg		NIPA-like domain containing 1							143	133	136					4																	48027157		2203	4300	6503	SO:0001583	missense	152519					integral to membrane		g.chr4:48027157T>A	BC067881	CCDS3479.1	4p12	2009-03-24		2009-03-24	ENSG00000163293	ENSG00000163293			27194	protein-coding gene	gene with protein product				NPAL1			Standard	NM_207330		Approved	DKFZp686A06115	uc003gxw.3	Q6NVV3	OTTHUMG00000128622	ENST00000295461.5:c.119T>A	4.37:g.48027157T>A	ENSP00000295461:p.Leu40Gln					NIPAL1_ENST00000508180.1_3'UTR	p.L40Q	NM_207330.1	NP_997213.1	Q6NVV3	NIPA3_HUMAN			2	185	+			40					B3KTB0|Q68DA9	Missense_Mutation	SNP	ENST00000295461.5	37	c.119T>A	CCDS3479.1	.	.	.	.	.	.	.	.	.	.	T	10.38	1.334610	0.24253	.	.	ENSG00000163293	ENST00000295461;ENST00000511123	D;T	0.90197	-2.63;-1.07	5.13	-1.56	0.08532	.	1.477850	0.04437	N	0.370231	T	0.80019	0.4547	N	0.24115	0.695	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.63937	-0.6524	10	0.13853	T	0.58	.	2.2898	0.04136	0.2783:0.0709:0.1829:0.4679	.	40	Q6NVV3	NIPA3_HUMAN	Q	40;5	ENSP00000295461:L40Q;ENSP00000422276:L5Q	ENSP00000295461:L40Q	L	+	2	0	NIPAL1	47721914	0.000000	0.05858	0.332000	0.25469	0.830000	0.47004	0.038000	0.13862	0.034000	0.15491	-0.435000	0.05868	CTG		0.438	NIPAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250491.4	NM_207330		8	69	0	0	0	1	0	8	69					A	48027157	T	A	48027157	3	1	337	1	0	0	0	0	1	0	0	0	10424	1580	55	5	125	5	NIPAL1	4	48027157	Missense_Mutation	SNP	T	TCGA-KK-A8I9-01A-11D-A364-08	45204721	48027157	143127119	12	17054											
C5orf51	285636	broad.mit.edu	37	chr5	41909968	41909968	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tttcagaaccagaaattttaGtaaaggaaaataatatgcat	19	12	6	4	0	1	2	1	0	0	2	1	3	1	3	1	1	2	2	1	1	9	6			TCGA-KK-A8I9-01A-11D-A364-08	TCGA-KK-A8I9-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bebc84b6-9179-420b-8207-858b999e8c0c	50b1e243-b45a-42a1-8692-b7ae5d51250f	g.chr5:41909968G>C	ENST00000381647.2	+	3	347	c.328G>C	c.(328-330)Gta>Cta	p.V110L	C5orf51_ENST00000505931.2_3'UTR	NM_175921.4	NP_787117.3	A6NDU8	CE051_HUMAN	chromosome 5 open reading frame 51	110										endometrium(1)|large_intestine(5)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	11						AGAAATTTTAGTAAAGGAAAA	0.323																																						ENST00000381647.2																			0				endometrium(1)|large_intestine(5)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	11						c.(328-330)Gta>Cta		chromosome 5 open reading frame 51							38	41	40					5																	41909968		2190	4278	6468	SO:0001583	missense	285636							g.chr5:41909968G>C	AL833916, AK094002	CCDS34151.1	5p13.1	2008-07-18			ENSG00000205765	ENSG00000205765			27750	protein-coding gene	gene with protein product						14702039	Standard	NM_175921		Approved	LOC285636	uc003jmo.3	A6NDU8	OTTHUMG00000162084	ENST00000381647.2:c.328G>C	5.37:g.41909968G>C	ENSP00000371061:p.Val110Leu					C5orf51_ENST00000505931.2_3'UTR	p.V110L	NM_175921.4	NP_787117.3	A6NDU8	CE051_HUMAN			3	347	+			110					A2RRM9	Missense_Mutation	SNP	ENST00000381647.2	37	c.328G>C	CCDS34151.1	.	.	.	.	.	.	.	.	.	.	G	17.22	3.333672	0.60853	.	.	ENSG00000205765	ENST00000381647	T	0.36699	1.24	5.18	4.31	0.51392	.	0.312145	0.34700	N	0.003757	T	0.27697	0.0681	N	0.24115	0.695	0.29360	N	0.864729	B	0.21905	0.062	B	0.28638	0.092	T	0.24476	-1.0159	10	0.56958	D	0.05	-35.4009	12.1841	0.54227	0.0793:0.0:0.9207:0.0	.	110	A6NDU8	CE051_HUMAN	L	110	ENSP00000371061:V110L	ENSP00000371061:V110L	V	+	1	0	C5orf51	41945725	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	5.386000	0.66238	1.185000	0.42971	0.655000	0.94253	GTA		0.323	C5orf51-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367144.1	NM_175921		3	50	0	0	0	1	0	3	50					C	41909968	G	C	41909968	3	2	337	1	0	0	0	0	1	0	0	0	2308	1029	36	5	338	5	C5orf51	5	41909968	Missense_Mutation	SNP	G	TCGA-KK-A8I9-01A-11D-A364-08		41909968	139005292	13	17055											
PCDHA5	56143	broad.mit.edu	37	chr5	140202850	140202850	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctactcgctggtggagcggcGggtgggcgagcgcccgctgt	3	7	19	12	6	0	0	0	0	0	0	1	2	0	1	1	5	3	2	1	5	1	1			TCGA-KK-A8I9-01A-11D-A364-08	TCGA-KK-A8I9-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bebc84b6-9179-420b-8207-858b999e8c0c	50b1e243-b45a-42a1-8692-b7ae5d51250f	g.chr5:140202850G>A	ENST00000529859.1	+	1	1490	c.1490G>A	c.(1489-1491)cGg>cAg	p.R497Q	PCDHA5_ENST00000529619.1_Missense_Mutation_p.R497Q|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000378126.3_Missense_Mutation_p.R497Q|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron	NM_018908.2	NP_061731.1	Q9Y5H7	PCDA5_HUMAN	protocadherin alpha 5	497	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(3)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTGGAGCGGCGGGTGGGCGAG	0.672																																						ENST00000529859.1																			0				NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(3)	60						c.(1489-1491)cGg>cAg									52	57	56					5																	140202850		2203	4299	6502	SO:0001583	missense	0							g.chr5:140202850G>A	AF152483	CCDS54917.1	5q31	2010-11-26				ENSG00000204965		"Cadherins / Protocadherins : Clustered"	8671	other	complex locus constituent	"ortholog of mouse CNR6", "KIAA0345-like 9"	606311		CNRS6		10380929, 10662547	Standard	NM_018908		Approved	CNR6, CRNR6, CNRN6, PCDH-ALPHA5		Q9Y5H7		ENST00000529859.1:c.1490G>A	5.37:g.140202850G>A	ENSP00000436557:p.Arg497Gln					PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529619.1_Missense_Mutation_p.R497Q|PCDHA5_ENST00000378126.3_Missense_Mutation_p.R497Q	p.R497Q	NM_018908.2	NP_061731.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1490	+								O75284|Q8N4R3	Missense_Mutation	SNP	ENST00000529859.1	37	c.1490G>A	CCDS54917.1	.	.	.	.	.	.	.	.	.	.	G	11.84	1.757618	0.31137	.	.	ENSG00000204965	ENST00000529619;ENST00000529859;ENST00000378126	T;T;T	0.51325	0.71;0.71;0.71	3.86	2.89	0.33648	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.21227	0.0511	N	0.10760	0.04	0.09310	N	0.999998	P;P;P	0.46512	0.681;0.879;0.849	B;B;B	0.35182	0.104;0.197;0.197	T	0.02326	-1.1176	9	0.35671	T	0.21	.	6.3202	0.21213	0.0:0.2017:0.5913:0.2071	.	497;497;497	Q9Y5H7;Q9Y5H7-3;Q9Y5H7-2	PCDA5_HUMAN;.;.	Q	497	ENSP00000433416:R497Q;ENSP00000436557:R497Q;ENSP00000367366:R497Q	ENSP00000367366:R497Q	R	+	2	0	PCDHA5	140183034	0.008000	0.16893	0.988000	0.46212	0.982000	0.71751	1.856000	0.39389	1.864000	0.54056	0.461000	0.40582	CGG		0.672	PCDHA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372883.2	NM_018908		6	80	0	0	0	1	0	6	80					A	140202850	G	A	140202850	3	1	337	1	0	0	0	0	1	0	0	0	11527	1116	39	2	1492	2	PCDHA5	5	140202850	Missense_Mutation	SNP	G	TCGA-KK-A8I9-01A-11D-A364-08	98292882	140202850	40712410	14	17056											
PCDHA5	56143	broad.mit.edu	37	chr5	140202971	140202971	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagttccaggtgagcgcgcgCgacgcgggcgtgccgcctct	4	6	16	15	8	1	1	0	1	1	0	2	2	2	1	3	2	2	1	3	2	0	1			TCGA-KK-A8I9-01A-11D-A364-08	TCGA-KK-A8I9-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bebc84b6-9179-420b-8207-858b999e8c0c	50b1e243-b45a-42a1-8692-b7ae5d51250f	g.chr5:140202971C>T	ENST00000529859.1	+	1	1611	c.1611C>T	c.(1609-1611)cgC>cgT	p.R537R	PCDHA5_ENST00000529619.1_Silent_p.R537R|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000378126.3_Silent_p.R537R|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron	NM_018908.2	NP_061731.1	Q9Y5H7	PCDA5_HUMAN	protocadherin alpha 5	537	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(3)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGAGCGCGCGCGACGCGGGCG	0.682																																						ENST00000529859.1																			0				NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(3)	60						c.(1609-1611)cgC>cgT									46	53	51					5																	140202971		2202	4298	6500	SO:0001819	synonymous_variant	0							g.chr5:140202971C>T	AF152483	CCDS54917.1	5q31	2010-11-26				ENSG00000204965		"Cadherins / Protocadherins : Clustered"	8671	other	complex locus constituent	"ortholog of mouse CNR6", "KIAA0345-like 9"	606311		CNRS6		10380929, 10662547	Standard	NM_018908		Approved	CNR6, CRNR6, CNRN6, PCDH-ALPHA5		Q9Y5H7		ENST00000529859.1:c.1611C>T	5.37:g.140202971C>T						PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529619.1_Silent_p.R537R|PCDHA5_ENST00000378126.3_Silent_p.R537R	p.R537R	NM_018908.2	NP_061731.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1611	+								O75284|Q8N4R3	Silent	SNP	ENST00000529859.1	37	c.1611C>T	CCDS54917.1																																																																																				0.682	PCDHA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372883.2	NM_018908		4	122	0	0	0	1	0	4	122					T	140202971	C	T	140202971	2	4	337	1	0	0	0	0	0	0	0	1	11527	755	27	1		1	PCDHA5	5	140202971	Silent	SNP	C	TCGA-KK-A8I9-01A-11D-A364-08	121	140202971	40712289	15	17057											
GMPR	2766	broad.mit.edu	37	chr6	16247181	16247181	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcacgtttgagatggcagccGtgatgtcacaggtgaggcgg	8	8	17	8	3	1	3	1	3	0	1	1	4	1	3	1	4	1	3	1	4	0	1	rs149627498	byFrequency	TCGA-KK-A8I9-01A-11D-A364-08	TCGA-KK-A8I9-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bebc84b6-9179-420b-8207-858b999e8c0c	50b1e243-b45a-42a1-8692-b7ae5d51250f	g.chr6:16247181G>A	ENST00000259727.4	+	2	310	c.196G>A	c.(196-198)Gtg>Atg	p.V66M		NM_006877.3	NP_006868.3	P36959	GMPR1_HUMAN	guanosine monophosphate reductase	66					nucleobase-containing small molecule metabolic process (GO:0055086)|nucleotide metabolic process (GO:0009117)|purine nucleobase metabolic process (GO:0006144)|purine-containing compound salvage (GO:0043101)|response to cold (GO:0009409)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|GMP reductase complex (GO:1902560)	GMP reductase activity (GO:0003920)|metal ion binding (GO:0046872)			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)	20	Breast(50;0.0427)|Ovarian(93;0.103)	all_hematologic(90;0.0895)				GATGGCAGCCGTGATGTCACA	0.512													G|||	2	0.000399361	0	0.0014	5008	,	,		19328	0		0.001	False		,,,				2504	0					ENST00000259727.4																			0				NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)	20						c.(196-198)Gtg>Atg		guanosine monophosphate reductase		G	MET/VAL	1,4405	2.1+/-5.4	0,1,2202	117	106	110		196	4.5	1	6	dbSNP_134	110	5,8595	4.3+/-15.6	0,5,4295	yes	missense	GMPR	NM_006877.3	21	0,6,6497	AA,AG,GG		0.0581,0.0227,0.0461	benign	66/346	16247181	6,13000	2203	4300	6503	SO:0001583	missense	2766				nucleotide metabolic process|purine base metabolic process|purine-containing compound salvage|response to cold	cytosol	GMP reductase activity|metal ion binding	g.chr6:16247181G>A		CCDS4537.1	6p23	2009-07-10			ENSG00000137198	ENSG00000137198	1.7.1.7		4376	protein-coding gene	gene with protein product		139265				2194676	Standard	NM_006877		Approved		uc003nbs.3	P36959	OTTHUMG00000014302	ENST00000259727.4:c.196G>A	6.37:g.16247181G>A	ENSP00000259727:p.Val66Met						p.V66M	NM_006877.3	NP_006868.3	P36959	GMPR1_HUMAN			2	310	+	Breast(50;0.0427)|Ovarian(93;0.103)	all_hematologic(90;0.0895)	66					Q96HQ6	Missense_Mutation	SNP	ENST00000259727.4	37	c.196G>A	CCDS4537.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	16.10	3.026344	0.54683	2.27E-4	5.81E-4	ENSG00000137198	ENST00000259727	T	0.78707	-1.2	5.37	4.49	0.54785	Aldolase-type TIM barrel (1);IMP dehydrogenase/GMP reductase (1);	0.170264	0.50627	D	0.000101	T	0.63402	0.2508	L	0.45285	1.41	0.58432	D	0.999999	P	0.48294	0.908	B	0.41571	0.36	T	0.71441	-0.4592	10	0.66056	D	0.02	5.064	13.8333	0.63393	0.0737:0.0:0.9263:0.0	.	66	P36959	GMPR1_HUMAN	M	66	ENSP00000259727:V66M	ENSP00000259727:V66M	V	+	1	0	GMPR	16355160	1.000000	0.71417	0.954000	0.39281	0.836000	0.47400	5.709000	0.68384	2.677000	0.91161	0.561000	0.74099	GTG		0.512	GMPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039942.2			11	51	0	0	0	1	0	11	51					A	16247181	G	A	16247181	3	1	337	1	0	0	0	0	1	0	0	0	6496	1145	40	1	202	1	GMPR	6	16247181	Missense_Mutation	SNP	G	TCGA-KK-A8I9-01A-11D-A364-08		16247181	154867886	16	17058											
PHF3	23469	broad.mit.edu	37	chr6	64422100	64422100	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atctacagataagtcagcagAaatagaaacatcagtagtag	19	8	8	6	0	3	3	2	0	1	3	3	3	3	3	0	0	3	3	0	0	7	5			TCGA-KK-A8I9-01A-11D-A364-08	TCGA-KK-A8I9-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bebc84b6-9179-420b-8207-858b999e8c0c	50b1e243-b45a-42a1-8692-b7ae5d51250f	g.chr6:64422100A>G	ENST00000262043.3	+	16	4956	c.4616A>G	c.(4615-4617)gAa>gGa	p.E1539G	PHF3_ENST00000393387.1_Missense_Mutation_p.E1539G			Q92576	PHF3_HUMAN	PHD finger protein 3	1539					multicellular organismal development (GO:0007275)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)			AAGTCAGCAGAAATAGAAACA	0.363																																					GBM(135;136 1820 29512 34071 46235)	ENST00000262043.3																			0				breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75						c.(4615-4617)gAa>gGa		PHD finger protein 3							66	66	66					6																	64422100		2203	4299	6502	SO:0001583	missense	23469				multicellular organismal development|transcription, DNA-dependent	nucleus	zinc ion binding	g.chr6:64422100A>G	AF091622	CCDS4966.1	6q12	2013-09-24			ENSG00000118482	ENSG00000118482		"Zinc fingers, PHD-type"	8921	protein-coding gene	gene with protein product		607789				11856869	Standard	XM_005248701		Approved		uc003pep.1	Q92576	OTTHUMG00000014952	ENST00000262043.3:c.4616A>G	6.37:g.64422100A>G	ENSP00000262043:p.Glu1539Gly					PHF3_ENST00000393387.1_Missense_Mutation_p.E1539G	p.E1539G			Q92576	PHF3_HUMAN	LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)		16	4956	+	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		1539					A3KFI8|Q14CR5|Q5CZI1|Q5T1T6|Q9NQ16|Q9UI45	Missense_Mutation	SNP	ENST00000262043.3	37	c.4616A>G	CCDS4966.1	.	.	.	.	.	.	.	.	.	.	A	0.003	-2.504356	0.00155	.	.	ENSG00000118482	ENST00000515594;ENST00000262043;ENST00000393387	T;T;T	0.45276	0.9;2.21;2.21	1.49	-1.43	0.08884	.	0.288348	0.18650	N	0.135029	T	0.06645	0.0170	N	0.12182	0.205	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.31696	-0.9934	10	0.34782	T	0.22	1.458	4.3546	0.11172	0.5736:0.0:0.0:0.4264	.	1539	Q92576	PHF3_HUMAN	G	808;1539;1539	ENSP00000425338:E808G;ENSP00000262043:E1539G;ENSP00000377048:E1539G	ENSP00000262043:E1539G	E	+	2	0	PHF3	64480059	0.002000	0.14202	0.003000	0.11579	0.043000	0.13939	0.265000	0.18515	-0.378000	0.07918	-0.282000	0.10007	GAA		0.363	PHF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041086.2			14	64	0	0	0	1	0	14	64					G	64422100	A	G	64422100	3	3	337	1	0	0	0	0	1	0	0	0	11836	246	9	4	4674	4	PHF3	6	64422100	Missense_Mutation	SNP	A	TCGA-KK-A8I9-01A-11D-A364-08	48174919	64422100	106692967	17	17059											
PGM3	112611	broad.mit.edu	37	chr6	83900533	83900533	+	5'Flank	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	cactaaacccattacctcagGattgtgggacgctgttacca	11	10	8	12	1	1	0	1	0	0	0	1	2	1	2	3	2	3	2	3	2	4	4			TCGA-KK-A8I9-01A-11D-A364-08	TCGA-KK-A8I9-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bebc84b6-9179-420b-8207-858b999e8c0c	50b1e243-b45a-42a1-8692-b7ae5d51250f	g.chr6:83900533G>A	ENST00000369724.4	+	0	0				PGM3_ENST00000506587.1_Missense_Mutation_p.P95S|RWDD2A_ENST00000539997.1_5'Flank|PGM3_ENST00000513973.1_Missense_Mutation_p.P67S|PGM3_ENST00000512866.1_Missense_Mutation_p.P67S|PGM3_ENST00000283977.4_Intron	NM_033411.3	NP_219479.2	Q9UIY3	RWD2A_HUMAN	RWD domain containing 2A											cervix(1)|large_intestine(1)|lung(1)|prostate(1)|skin(1)	5		all_cancers(76;2.38e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00217)		BRCA - Breast invasive adenocarcinoma(397;0.045)		ATTACCTCAGGATTGTGGGAC	0.403																																						ENST00000513973.1																			0				NS(1)|breast(1)|endometrium(2)|large_intestine(4)|lung(6)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	18						c.(199-201)Cct>Tct		phosphoglucomutase 3							196	164	175					6																	83900533		2203	4300	6503	SO:0001631	upstream_gene_variant	5238				dolichol-linked oligosaccharide biosynthetic process|embryo development ending in birth or egg hatching|glucose 1-phosphate metabolic process|hemopoiesis|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process	cytosol	magnesium ion binding|phosphoacetylglucosamine mutase activity|phosphoglucomutase activity	g.chr6:83900533G>A	BC010930	CCDS4998.1	6q15	2012-12-07	2007-07-17	2007-07-17	ENSG00000013392	ENSG00000013392			21385	protein-coding gene	gene with protein product			"RWD domain containing 2"	RWDD2			Standard	NM_033411		Approved	MGC13523, dJ747H23.2	uc003pjx.4	Q9UIY3	OTTHUMG00000015109		6.37:g.83900533G>A	Exception_encountered					PGM3_ENST00000512866.1_Missense_Mutation_p.P67S|PGM3_ENST00000506587.1_Missense_Mutation_p.P95S|PGM3_ENST00000283977.4_Intron	p.P67S	NM_001199918.1|NM_015599.2	NP_001186847.1|NP_056414.1	O95394	AGM1_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.0478)	2	315	-		all_cancers(76;0.000504)|Acute lymphoblastic leukemia(125;3.85e-06)|all_hematologic(105;0.0017)|all_epithelial(107;0.068)	67					B4DIQ3|E1P548|Q2M3R3|Q96FH1	Missense_Mutation	SNP	ENST00000369724.4	37	c.199C>T	CCDS4998.1	.	.	.	.	.	.	.	.	.	.	G	19.02	3.745304	0.69418	.	.	ENSG00000013375	ENST00000513973;ENST00000512866;ENST00000506587;ENST00000507554;ENST00000508748;ENST00000503094	T;T;D;D;D;D	0.87809	-0.93;-0.93;-2.3;-2.3;-2.3;-2.3	5.76	5.76	0.90799	Alpha-D-phosphohexomutase, alpha/beta/alpha domain I (1);Alpha-D-phosphohexomutase, alpha/beta/alpha I/II/III (2);Alpha-D-phosphohexomutase, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.95153	0.8429	M	0.92833	3.35	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.95514	0.8588	10	0.87932	D	0	0.2453	19.9857	0.97347	0.0:0.0:1.0:0.0	.	95;67	E9PF86;O95394	.;AGM1_HUMAN	S	67;67;95;67;95;95	ENSP00000424874:P67S;ENSP00000421565:P67S;ENSP00000425809:P95S;ENSP00000425558:P67S;ENSP00000424865:P95S;ENSP00000422362:P95S	ENSP00000422362:P95S	P	-	1	0	PGM3	83957252	1.000000	0.71417	1.000000	0.80357	0.174000	0.22865	9.476000	0.97823	2.706000	0.92434	0.655000	0.94253	CCT		0.403	RWDD2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041348.2	NM_033411		6	42	0	0	0	1	0	6	42					A	83900533	G	A	83900533	1	1	337	0	1	0	0	0	0	0	0	0	11800	1174	41	3		3	PGM3	6	83900533	5'Flank	SNP	G	TCGA-KK-A8I9-01A-11D-A364-08	19478433	83900533	87214534	18	17060											
TAGAP	117289	broad.mit.edu	37	chr6	159463110	159463110	+	Splice_Site	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atgagagaatgcacgcctacCtggatgggtctggggagtgt	9	9	16	7	1	1	2	0	1	1	1	1	5	1	4	2	4	2	1	2	4	2	1			TCGA-KK-A8I9-01A-11D-A364-08	TCGA-KK-A8I9-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bebc84b6-9179-420b-8207-858b999e8c0c	50b1e243-b45a-42a1-8692-b7ae5d51250f	g.chr6:159463110C>G	ENST00000367066.3	-	5	646	c.315G>C	c.(313-315)caG>caC	p.Q105H	TAGAP_ENST00000326965.6_Intron|RP1-111C20.4_ENST00000607796.1_RNA|TAGAP_ENST00000338313.5_Splice_Site_p.Q105H|RP1-111C20.4_ENST00000607391.1_RNA|RP1-111C20.4_ENST00000606470.1_RNA|RP1-111C20.4_ENST00000606466.1_RNA	NM_001278733.1|NM_054114.3	NP_001265662.1|NP_473455.2	Q8N103	TAGAP_HUMAN	T-cell activation RhoGTPase activating protein	105	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	guanyl-nucleotide exchange factor activity (GO:0005085)			NS(1)|autonomic_ganglia(1)|endometrium(3)|large_intestine(8)|lung(7)|ovary(2)|skin(1)	23		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.16e-16)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06)		GCACGCCTACCTGGATGGGTC	0.443																																						ENST00000367066.3																			0				NS(1)|autonomic_ganglia(1)|endometrium(3)|large_intestine(8)|lung(7)|ovary(2)|skin(1)	23						c.e5+1		T-cell activation RhoGTPase activating protein							206	202	204					6																	159463110		2203	4300	6503	SO:0001630	splice_region_variant	117289				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|guanyl-nucleotide exchange factor activity	g.chr6:159463110C>G	AF385429	CCDS5261.1, CCDS5262.1, CCDS5263.1	6q25.3	2011-09-07	2008-03-25		ENSG00000164691	ENSG00000164691		"Rho GTPase activating proteins"	15669	protein-coding gene	gene with protein product		609667	"T-cell activation GTPase activating protein"			16375659, 18311140, 18356936	Standard	NM_152133		Approved	FLJ32631, IDDM21, ARHGAP47	uc003qrz.3	Q8N103	OTTHUMG00000015923	ENST00000367066.3:c.315+1G>C	6.37:g.159463110C>G						TAGAP_ENST00000326965.6_Intron|RP1-111C20.4_ENST00000606470.1_RNA|RP1-111C20.4_ENST00000606466.1_RNA|RP1-111C20.4_ENST00000607796.1_RNA|TAGAP_ENST00000338313.5_Splice_Site_p.Q105_splice|RP1-111C20.4_ENST00000607391.1_RNA	p.Q105_splice	NM_054114.3	NP_473455.2	Q8N103	TAGAP_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.16e-16)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06)	5	646	-		Breast(66;0.000776)|Ovarian(120;0.0303)	105			Rho-GAP.		Q2NKM8|Q8NI40|Q96KZ2|Q96QA2	Splice_Site	SNP	ENST00000367066.3	37	c.315_splice	CCDS5261.1	.	.	.	.	.	.	.	.	.	.	C	16.04	3.009482	0.54361	.	.	ENSG00000164691	ENST00000367066;ENST00000338313	T;T	0.19806	2.12;2.12	5.8	5.8	0.92144	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	0.097574	0.47455	D	0.000221	T	0.36580	0.0972	M	0.72118	2.19	0.49915	D	0.999838	D;D	0.89917	0.991;1.0	P;D	0.77557	0.822;0.99	T	0.03706	-1.1011	9	.	.	.	-34.2679	14.4925	0.67660	0.1469:0.853:0.0:0.0	.	105;105	Q8N103-4;Q8N103	.;TAGAP_HUMAN	H	105	ENSP00000356033:Q105H;ENSP00000340217:Q105H	.	Q	-	3	2	TAGAP	159383098	1.000000	0.71417	1.000000	0.80357	0.255000	0.26057	1.070000	0.30653	2.746000	0.94184	0.563000	0.77884	CAG		0.443	TAGAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042890.1	NM_054114	Missense_Mutation	4	141	0	0	0	1	0	4	141					G	159463110	C	G	159463110	5	3	337	1	0	0	0	0	0	0	1	0	15534	695	24	5	1922	5	TAGAP	6	159463110	Splice_Site	SNP	C	TCGA-KK-A8I9-01A-11D-A364-08	75562577	159463110	11651957	19	17061											
PCLO	27445	broad.mit.edu	37	chr7	82451834	82451834	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttgaatgcggagttgttgcAcggcagcttcggcagcagct	7	10	15	9	3	0	1	0	1	0	0	1	2	0	2	0	3	5	9	0	3	1	4			TCGA-KK-A8I9-01A-11D-A364-08	TCGA-KK-A8I9-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bebc84b6-9179-420b-8207-858b999e8c0c	50b1e243-b45a-42a1-8692-b7ae5d51250f	g.chr7:82451834A>T	ENST00000333891.9	-	20	15105	c.14768T>A	c.(14767-14769)gTg>gAg	p.V4923E	PCLO_ENST00000423517.2_Missense_Mutation_p.V4923E|PCLO_ENST00000426442.2_5'UTR	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein											breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						GAGTTGTTGCACGGCAGCTTC	0.507																																						ENST00000423517.2																			0				breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						c.(14767-14769)gTg>gAg		piccolo presynaptic cytomatrix protein							148	158	155					7																	82451834		2071	4208	6279	SO:0001583	missense	27445				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	g.chr7:82451834A>T	AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"aczonin"	604918	"piccolo (presynaptic cytomatrix protein)"			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.14768T>A	7.37:g.82451834A>T	ENSP00000334319:p.Val4923Glu					PCLO_ENST00000426442.2_5'UTR|PCLO_ENST00000333891.8_Missense_Mutation_p.V4923E	p.V4923E	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN			20	15105	-			4785						Missense_Mutation	SNP	ENST00000333891.9	37	c.14768T>A	CCDS47630.1	.	.	.	.	.	.	.	.	.	.	A	14.35	2.509109	0.44660	.	.	ENSG00000186472	ENST00000333891;ENST00000423517;ENST00000380195	T;T	0.20200	2.37;2.09	5.56	5.56	0.83823	.	.	.	.	.	T	0.27933	0.0688	N	0.08118	0	0.80722	D	1	D;D;P;D	0.89917	1.0;1.0;0.95;0.966	D;D;P;P	0.76575	0.988;0.988;0.698;0.598	T	0.38178	-0.9673	9	0.87932	D	0	.	15.7041	0.77563	1.0:0.0:0.0:0.0	.	4923;4923;344;411	Q9Y6V0-5;Q9Y6V0-6;Q9Y6V0-3;Q32P40	.;.;.;.	E	4923;4923;410	ENSP00000334319:V4923E;ENSP00000388393:V4923E	ENSP00000334319:V4923E	V	-	2	0	PCLO	82289770	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	3.552000	0.53705	2.110000	0.64415	0.533000	0.62120	GTG		0.507	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510		4	148	0	0	0	1	0	4	148					T	82451834	A	T	82451834	3	4	337	1	0	0	0	0	1	0	0	0	11583	159	6	5	701	5	PCLO	7	82451834	Missense_Mutation	SNP	A	TCGA-KK-A8I9-01A-11D-A364-08		82451834	76686829	20	17062											
NOS3	4846	broad.mit.edu	37	chr7	150704213	150704213	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ctgtgtgttcgggctcggctCccgggcatacccccacttct	3	11	11	16	3	1	0	0	0	1	0	4	0	2	0	3	3	1	4	3	3	1	3			TCGA-KK-A8I9-01A-11D-A364-08	TCGA-KK-A8I9-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bebc84b6-9179-420b-8207-858b999e8c0c	50b1e243-b45a-42a1-8692-b7ae5d51250f	g.chr7:150704213C>T	ENST00000297494.3	+	17	2318	c.1961C>T	c.(1960-1962)tCc>tTc	p.S654F	NOS3_ENST00000461406.1_Missense_Mutation_p.S448F	NM_000603.4	NP_000594.2	P60323	NANO3_HUMAN	nitric oxide synthase 3 (endothelial cell)	0					germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic signaling pathway (GO:2001234)|oogenesis (GO:0048477)|regulation of cell cycle (GO:0051726)|regulation of translation (GO:0006417)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytoplasmic stress granule (GO:0010494)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			NS(3)|breast(3)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(11)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	50	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GGGCTCGGCTCCCGGGCATAC	0.687																																						ENST00000297494.3																			0				NS(3)|breast(3)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(11)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						c.(1960-1962)tCc>tTc		nitric oxide synthase 3 (endothelial cell)	L-Arginine(DB00125)|L-Citrulline(DB00155)|Rosuvastatin(DB01098)|Tetrahydrobiopterin(DB00360)						103	104	104					7																	150704213		2203	4300	6503	SO:0001583	missense	4846				anti-apoptosis|arginine catabolic process|blood vessel remodeling|endothelial cell migration|mitochondrion organization|negative regulation of muscle hyperplasia|negative regulation of platelet activation|nitric oxide biosynthetic process|platelet activation|positive regulation of angiogenesis|positive regulation of guanylate cyclase activity|positive regulation of vasodilation|regulation of blood vessel size|regulation of nitric-oxide synthase activity|regulation of systemic arterial blood pressure by endothelin|response to fluid shear stress|response to heat|smooth muscle hyperplasia	caveola|cytoskeleton|cytosol|Golgi membrane	actin monomer binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding	g.chr7:150704213C>T		CCDS5912.1, CCDS55182.1, CCDS55183.1	7q36	2007-02-15			ENSG00000164867	ENSG00000164867	1.14.13.39		7876	protein-coding gene	gene with protein product	"endothelial nitric oxide synthase"	163729				1379542	Standard	NM_000603		Approved	ECNOS, eNOS	uc003wif.3	P29474	OTTHUMG00000158343	ENST00000297494.3:c.1961C>T	7.37:g.150704213C>T	ENSP00000297494:p.Ser654Phe					NOS3_ENST00000461406.1_Missense_Mutation_p.S448F	p.S654F	NM_000603.4	NP_000594.2	P29474	NOS3_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	17	2318	+	all_neural(206;0.219)		654			Flavodoxin-like.		Q495E5	Missense_Mutation	SNP	ENST00000297494.3	37	c.1961C>T	CCDS5912.1	.	.	.	.	.	.	.	.	.	.	C	26.2	4.714166	0.89112	.	.	ENSG00000164867	ENST00000297494;ENST00000461406	T;T	0.61274	0.12;0.12	4.92	4.92	0.64577	Flavodoxin/nitric oxide synthase (2);	0.000000	0.64402	D	0.000009	T	0.80226	0.4584	M	0.90082	3.085	0.80722	D	1	D;D	0.89917	0.997;1.0	D;D	0.79108	0.976;0.992	D	0.84752	0.0757	10	0.87932	D	0	-14.3522	16.0526	0.80774	0.0:1.0:0.0:0.0	.	448;654	E7ESA7;P29474	.;NOS3_HUMAN	F	654;448	ENSP00000297494:S654F;ENSP00000417143:S448F	ENSP00000297494:S654F	S	+	2	0	NOS3	150335146	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	4.919000	0.63383	2.457000	0.83068	0.499000	0.49734	TCC		0.687	NOS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350750.2	NM_000603		5	177	0	0	0	1	0	5	177					T	150704213	C	T	150704213	3	4	337	1	0	0	0	0	1	0	0	0	10544	855	30	3	2305	3	NOS3	7	150704213	Missense_Mutation	SNP	C	TCGA-KK-A8I9-01A-11D-A364-08	68252379	150704213	8434450	21	17063											
MLL3	58508	broad.mit.edu	37	chr7	151836271	151836271	+	Splice_Site	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caggttcctcgctgtctcacCttgcgggccctcctgtgagc	3	11	11	16	2	1	1	1	1	1	0	5	1	3	1	4	2	2	2	4	2	0	2			TCGA-KK-A8I9-01A-11D-A364-08	TCGA-KK-A8I9-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bebc84b6-9179-420b-8207-858b999e8c0c	50b1e243-b45a-42a1-8692-b7ae5d51250f	g.chr7:151836271C>G	ENST00000262189.6	-	57	14752	c.14534G>C	c.(14533-14535)aGg>aCg	p.R4845T	KMT2C_ENST00000355193.2_Splice_Site_p.R4902T|KMT2C_ENST00000485655.2_Splice_Site_p.R50T	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	4845	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										GCTGTCTCACCTTGCGGGCCC	0.567																																						ENST00000355193.2																			0											c.e58+1		lysine (K)-specific methyltransferase 2C							94	78	84					7																	151836271		2203	4300	6503	SO:0001630	splice_region_variant	58508							g.chr7:151836271C>G	AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	13726	protein-coding gene	gene with protein product		606833	"myeloid/lymphoid or mixed-lineage leukemia 3"	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.14534+1G>C	7.37:g.151836271C>G						KMT2C_ENST00000262189.6_Splice_Site_p.R4845_splice|KMT2C_ENST00000485655.2_Splice_Site_p.R50_splice	p.R4902_splice							58	14923	-								Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Splice_Site	SNP	ENST00000262189.6	37	c.14705_splice	CCDS5931.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.7|21.7	4.194227|4.194227	0.78902|0.78902	.|.	.|.	ENSG00000055609|ENSG00000055609	ENST00000360104|ENST00000262189;ENST00000355193;ENST00000485655;ENST00000424877	.|D;D;D;D	.|0.85556	.|-2.0;-2.0;-2.0;-2.0	4.81|4.81	4.81|4.81	0.61882|0.61882	.|SET domain (3);	.|0.000000	.|0.49305	.|U	.|0.000150	D|D	0.96197|0.96197	0.8760|0.8760	H|H	0.99425|0.99425	4.56|4.56	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|1.0;0.999;0.999	.|D;D;D	.|0.87578	.|0.998;0.996;0.996	D|D	0.98521|0.98521	1.0623|1.0623	5|9	.|.	.|.	.|.	.|.	18.2533|18.2533	0.90011|0.90011	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|4845;3959;4902	.|Q8NEZ4;Q8NEZ4-2;Q8NEZ4-3	.|MLL3_HUMAN;.;.	N|T	2401|4845;4902;50;1458	.|ENSP00000262189:R4845T;ENSP00000347325:R4902T;ENSP00000439909:R50T;ENSP00000410411:R1458T	.|.	K|R	-|-	3|2	2|0	MLL3|MLL3	151467204|151467204	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.920000|0.920000	0.55202|0.55202	7.534000|7.534000	0.82004|0.82004	2.382000|2.382000	0.81193|0.81193	0.650000|0.650000	0.86243|0.86243	AAG|AGG		0.567	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3		Missense_Mutation	11	48	0	0	0	1	0	11	48					G	151836271	C	G	151836271	5	3	337	1	0	0	0	0	0	0	1	0	9622	695	24	5	213	5	MLL3	7	151836271	Splice_Site	SNP	C	TCGA-KK-A8I9-01A-11D-A364-08	1132058	151836271	7302392	22	17064											
ZHX2	22882	broad.mit.edu	37	chr8	123965724	123965724	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tggcctactccccaggagtaCgaccagttagcggccaagac	10	6	11	14	2	0	1	0	0	0	1	1	3	1	2	5	3	3	2	5	3	4	3	rs199783339		TCGA-KK-A8I9-01A-11D-A364-08	TCGA-KK-A8I9-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bebc84b6-9179-420b-8207-858b999e8c0c	50b1e243-b45a-42a1-8692-b7ae5d51250f	g.chr8:123965724C>T	ENST00000314393.4	+	3	2809	c.1974C>T	c.(1972-1974)taC>taT	p.Y658Y		NM_014943.3	NP_055758.1	Q9Y6X8	ZHX2_HUMAN	zinc fingers and homeoboxes 2	658					mRNA catabolic process (GO:0006402)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	45	Lung NSC(37;2e-09)|Ovarian(258;0.0205)|Hepatocellular(40;0.105)		STAD - Stomach adenocarcinoma(47;0.00527)			CCCAGGAGTACGACCAGTTAG	0.542																																					Esophageal Squamous(94;1056 1388 11767 13799 49639)	ENST00000314393.4																			0				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	45						c.(1972-1974)taC>taT		zinc fingers and homeoboxes 2							84	84	84					8																	123965724		2203	4300	6503	SO:0001819	synonymous_variant	22882					cytoplasm|nucleus|plasma membrane	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:123965724C>T	AB020661	CCDS6336.1	8q24.13	2012-03-09	2004-01-23		ENSG00000178764	ENSG00000178764		"Zinc fingers, C2H2-type", "Homeoboxes / ZF class"	18513	protein-coding gene	gene with protein product		609185	"zinc-fingers and homeoboxes 2"			10048485, 12741956	Standard	XM_005250837		Approved	KIAA0854	uc003ypk.1	Q9Y6X8	OTTHUMG00000165077	ENST00000314393.4:c.1974C>T	8.37:g.123965724C>T							p.Y658Y	NM_014943.3	NP_055758.1	Q9Y6X8	ZHX2_HUMAN	STAD - Stomach adenocarcinoma(47;0.00527)		3	2809	+	Lung NSC(37;2e-09)|Ovarian(258;0.0205)|Hepatocellular(40;0.105)		658						Silent	SNP	ENST00000314393.4	37	c.1974C>T	CCDS6336.1																																																																																				0.542	ZHX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381709.1	NM_014943		11	65	0	0	0	1	0	11	65					T	123965724	C	T	123965724	2	4	337	1	0	0	0	0	0	0	0	1	17673	547	19	1		1	ZHX2	8	123965724	Silent	SNP	C	TCGA-KK-A8I9-01A-11D-A364-08		123965724	22398298	23	17065											
RRAGA	10670	broad.mit.edu	37	chr9	19050073	19050073	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaggaggatcagcgtgaccTgatttttaaagagcgagagg	12	9	14	6	2	2	4	2	2	0	2	2	7	2	6	1	3	2	0	1	3	2	3			TCGA-KK-A8I9-01A-11D-A364-08	TCGA-KK-A8I9-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bebc84b6-9179-420b-8207-858b999e8c0c	50b1e243-b45a-42a1-8692-b7ae5d51250f	g.chr9:19050073T>A	ENST00000380527.1	+	1	702	c.416T>A	c.(415-417)cTg>cAg	p.L139Q		NM_006570.4	NP_006561.1			Ras-related GTP binding A											endometrium(1)|large_intestine(1)|lung(1)	3						CAGCGTGACCTGATTTTTAAA	0.532																																						ENST00000380527.1																			0				endometrium(1)|large_intestine(1)|lung(1)	3						c.(415-417)cTg>cAg		Ras-related GTP binding A							77	74	75					9																	19050073		2203	4300	6503	SO:0001583	missense	10670				apoptosis|cellular protein localization|cellular response to amino acid stimulus|positive regulation of cytolysis|positive regulation of TOR signaling cascade|virus-host interaction	Golgi apparatus|lysosome|nucleus	GTP binding|phosphoprotein binding|protein heterodimerization activity|protein homodimerization activity	g.chr9:19050073T>A	BC006433	CCDS6488.1	9p21.3	2008-02-05			ENSG00000155876	ENSG00000155876			16963	protein-coding gene	gene with protein product		612194				7499430, 8995684	Standard	NM_006570		Approved	RAGA, FIP-1	uc003znj.3	Q7L523	OTTHUMG00000019621	ENST00000380527.1:c.416T>A	9.37:g.19050073T>A	ENSP00000369899:p.Leu139Gln						p.L139Q	NM_006570.4	NP_006561.1	Q7L523	RRAGA_HUMAN			1	702	+			139						Missense_Mutation	SNP	ENST00000380527.1	37	c.416T>A	CCDS6488.1	.	.	.	.	.	.	.	.	.	.	T	10.60	1.395977	0.25205	.	.	ENSG00000155876	ENST00000380527	T	0.62639	0.01	4.98	4.98	0.66077	.	0.087571	0.46145	D	0.000315	T	0.39937	0.1097	N	0.11201	0.11	0.58432	D	0.999997	B	0.11235	0.004	B	0.17979	0.02	T	0.28522	-1.0041	10	0.14252	T	0.57	-3.7068	11.2638	0.49099	0.0:0.0:0.0:1.0	.	139	Q7L523	RRAGA_HUMAN	Q	139	ENSP00000369899:L139Q	ENSP00000369899:L139Q	L	+	2	0	RRAGA	19040073	1.000000	0.71417	1.000000	0.80357	0.896000	0.52359	7.202000	0.77856	2.236000	0.73375	0.533000	0.62120	CTG		0.532	RRAGA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051824.1	NM_006570		7	31	0	0	0	1	0	7	31					A	19050073	T	A	19050073	3	1	337	1	0	0	0	0	1	0	0	0	13672	1580	55	5	418	5	RRAGA	9	19050073	Missense_Mutation	SNP	T	TCGA-KK-A8I9-01A-11D-A364-08		19050073	122163358	24	17066											
IFNA17	3451	broad.mit.edu	37	chr9	21227906	21227906	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagtcctctgtgctgaagagAttgaaggtctgctggatcat	9	12	13	7	0	3	3	1	2	2	1	4	6	4	4	1	2	2	2	1	2	2	1			TCGA-KK-A8I9-01A-11D-A364-08	TCGA-KK-A8I9-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bebc84b6-9179-420b-8207-858b999e8c0c	50b1e243-b45a-42a1-8692-b7ae5d51250f	g.chr9:21227906A>T	ENST00000413767.2	-	1	315	c.267T>A	c.(265-267)aaT>aaA	p.N89K		NM_021268.2	NP_067091.1	P01571	IFN17_HUMAN	interferon, alpha 17	89					adaptive immune response (GO:0002250)|B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|natural killer cell activation involved in immune response (GO:0002323)|positive regulation of peptidyl-serine phosphorylation of STAT protein (GO:0033141)|regulation of MHC class I biosynthetic process (GO:0045343)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to exogenous dsRNA (GO:0043330)|response to virus (GO:0009615)|T cell activation involved in immune response (GO:0002286)|type I interferon signaling pathway (GO:0060337)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	cytokine activity (GO:0005125)|type I interferon receptor binding (GO:0005132)			breast(1)|endometrium(2)|lung(4)|ovary(1)|skin(1)	9				Lung(24;2.13e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.116)		TGCTGAAGAGATTGAAGGTCT	0.478																																						ENST00000413767.2																			0				breast(1)|endometrium(2)|lung(4)|ovary(1)|skin(1)	9						c.(265-267)aaT>aaA		interferon, alpha 17							59	61	60					9																	21227906		2203	4289	6492	SO:0001583	missense	3451				blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|interferon-alpha/beta receptor binding	g.chr9:21227906A>T		CCDS6500.1	9p22	2010-12-10			ENSG00000234829	ENSG00000234829		"Interferons"	5422	protein-coding gene	gene with protein product		147583				1385305	Standard	NM_021268		Approved	LEIF2C1, IFN-alphaI	uc003zos.1	P01571	OTTHUMG00000019667	ENST00000413767.2:c.267T>A	9.37:g.21227906A>T	ENSP00000411940:p.Asn89Lys						p.N89K	NM_021268.2	NP_067091.1	P01571	IFN17_HUMAN		Lung(24;2.13e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.116)	1	315	-			89					Q14639|Q4KMT4|Q5VZ53|Q7M4Q4	Missense_Mutation	SNP	ENST00000413767.2	37	c.267T>A	CCDS6500.1	.	.	.	.	.	.	.	.	.	.	a	13.08	2.130501	0.37630	.	.	ENSG00000234829	ENST00000413767	T	0.03152	4.03	2.87	-0.589	0.11683	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	0.493922	0.21858	N	0.068063	T	0.07503	0.0189	M	0.91663	3.23	0.09310	N	1	B	0.22276	0.067	B	0.29077	0.098	T	0.30001	-0.9993	10	0.62326	D	0.03	.	2.0643	0.03599	0.1238:0.1954:0.4807:0.2	.	89	P01571	IFN17_HUMAN	K	89	ENSP00000411940:N89K	ENSP00000411940:N89K	N	-	3	2	IFNA17	21217906	0.000000	0.05858	0.005000	0.12908	0.585000	0.36419	-0.682000	0.05185	-0.259000	0.09432	-0.508000	0.04489	AAT		0.478	IFNA17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051896.1	NM_021268		12	87	0	0	0	1	0	12	87					T	21227906	A	T	21227906	3	4	337	1	0	0	0	0	1	0	0	0	7536	330	12	5	306	5	IFNA17	9	21227906	Missense_Mutation	SNP	A	TCGA-KK-A8I9-01A-11D-A364-08	2177833	21227906	119985525	25	17067											
GCNT1	2650	broad.mit.edu	37	chr9	79117309	79117309	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttgtttgaaatgctgaggacGttgctgcgaaggagactttt	9	14	13	5	2	0	3	0	2	0	1	0	6	0	4	0	2	3	4	0	2	2	5	rs555006203	byFrequency	TCGA-KK-A8I9-01A-11D-A364-08	TCGA-KK-A8I9-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bebc84b6-9179-420b-8207-858b999e8c0c	50b1e243-b45a-42a1-8692-b7ae5d51250f	g.chr9:79117309G>A	ENST00000376730.4	+	4	495	c.12G>A	c.(10-12)acG>acA	p.T4T	GCNT1_ENST00000442371.1_Silent_p.T4T|GCNT1_ENST00000488136.1_3'UTR|GCNT1_ENST00000536223.1_Silent_p.T4T|GCNT1_ENST00000444201.2_Silent_p.T4T	NM_001097636.1|NM_001490.4	NP_001091105.1|NP_001481.2	Q02742	GCNT1_HUMAN	glucosaminyl (N-acetyl) transferase 1, core 2	4					cell adhesion molecule production (GO:0060352)|cellular protein metabolic process (GO:0044267)|glycoprotein biosynthetic process (GO:0009101)|kidney morphogenesis (GO:0060993)|leukocyte tethering or rolling (GO:0050901)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to insulin (GO:0032868)|tissue morphogenesis (GO:0048729)	extracellular space (GO:0005615)|Golgi cisterna (GO:0031985)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|trans-Golgi network (GO:0005802)	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity (GO:0003829)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(11)|prostate(2)|urinary_tract(1)	30						TGCTGAGGACGTTGCTGCGAA	0.423													G|||	2	0.000399361	0.0015	0	5008	,	,		13162	0		0	False		,,,				2504	0					ENST00000442371.1																			0				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(11)|prostate(2)|urinary_tract(1)	30						c.(10-12)acG>acA		glucosaminyl (N-acetyl) transferase 1, core 2							87	88	88					9																	79117309		2203	4300	6503	SO:0001819	synonymous_variant	2650				protein O-linked glycosylation	Golgi membrane|integral to membrane	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity	g.chr9:79117309G>A	L41415	CCDS6653.1	9q13	2013-02-25	2010-03-16		ENSG00000187210	ENSG00000187210	2.4.1.102	"Glucosaminyl (N-acetyl) transferase and xylosyltransferase family"	4203	protein-coding gene	gene with protein product	"core 2 beta1,6 N-acetylglucosaminyltransferase-I", "beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N--acetylglucosaminyltransferase"	600391	"glucosaminyl (N-acetyl) transferase 1, core 2 (beta-1,6-N-acetylglucosaminyltransferase)"	NACGT2		8449405, 9915862	Standard	NM_001490		Approved	C2GNT, NAGCT2	uc004akf.4	Q02742	OTTHUMG00000020044	ENST00000376730.4:c.12G>A	9.37:g.79117309G>A						GCNT1_ENST00000536223.1_Silent_p.T4T|GCNT1_ENST00000444201.2_Silent_p.T4T|GCNT1_ENST00000488136.1_3'UTR|GCNT1_ENST00000376730.4_Silent_p.T4T	p.T4T	NM_001097634.1	NP_001091103.1	Q02742	GCNT1_HUMAN			3	951	+			4					Q6DJZ4	Silent	SNP	ENST00000376730.4	37	c.12G>A	CCDS6653.1																																																																																				0.423	GCNT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052725.1	NM_001097634		5	136	0	0	0	1	0	5	136					A	79117309	G	A	79117309	2	1	337	1	0	0	0	0	0	0	0	1	6300	1132	40	1		1	GCNT1	9	79117309	Silent	SNP	G	TCGA-KK-A8I9-01A-11D-A364-08	57889403	79117309	62096122	26	17068											
ST6GALNAC4	27090	broad.mit.edu	37	chr9	130670786	130670786	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcggggcgcctgctcgtgtGccaggtacatctgacactca	6	10	12	13	3	2	1	1	1	1	0	4	1	2	1	2	3	3	2	2	3	1	2			TCGA-KK-A8I9-01A-11D-A364-08	TCGA-KK-A8I9-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bebc84b6-9179-420b-8207-858b999e8c0c	50b1e243-b45a-42a1-8692-b7ae5d51250f	g.chr9:130670786G>A	ENST00000335791.5	-	6	1069	c.794C>T	c.(793-795)gCa>gTa	p.A265V	ST6GALNAC4_ENST00000343609.2_Missense_Mutation_p.A181V|ST6GALNAC4_ENST00000495983.1_5'UTR	NM_175039.3	NP_778204.1	Q9H4F1	SIA7D_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 4	265					cellular protein metabolic process (GO:0044267)|glycolipid metabolic process (GO:0006664)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|sialylation (GO:0097503)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	(alpha-N-acetylneuraminyl-2,3-beta-galactosyl-1,3)-N-acetyl-galactosaminide 6-alpha-sialyltransferase activity (GO:0047290)|sialyltransferase activity (GO:0008373)			endometrium(1)|large_intestine(2)|lung(2)|prostate(2)	7						CTGCTCGTGTGCCAGGTACAT	0.637																																						ENST00000335791.5																			0				endometrium(1)|large_intestine(2)|lung(2)|prostate(2)	7						c.(793-795)gCa>gTa		ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 4							70	72	71					9																	130670786		2203	4300	6503	SO:0001583	missense	27090				glycolipid metabolic process|protein glycosylation	integral to Golgi membrane|nucleus|soluble fraction	(alpha-N-acetylneuraminyl-2,3-beta-galactosyl-1,3)-N-acetyl-galactosaminide 6-alpha-sialyltransferase activity	g.chr9:130670786G>A	AB035172	CCDS6883.1	9q34	2013-03-01	2005-02-07	2005-02-07	ENSG00000136840	ENSG00000136840	2.4.99.7	"Sialyltransferases"	17846	protein-coding gene	gene with protein product		606378	"sialyltransferase 7D ((alpha-N-acetylneuraminyl-2,3-beta-galactosyl-1,3)-N-acetyl galactosaminide alpha-2,6-sialyltransferase)"	SIAT7D		10207017, 11062056	Standard	XM_005251922		Approved	ST6GALNACIV, SIAT3C	uc004bss.3	Q9H4F1	OTTHUMG00000020724	ENST00000335791.5:c.794C>T	9.37:g.130670786G>A	ENSP00000336733:p.Ala265Val					ST6GALNAC4_ENST00000495983.1_5'UTR|ST6GALNAC4_ENST00000343609.2_Missense_Mutation_p.A181V	p.A265V	NM_175039.3	NP_778204.1	Q9H4F1	SIA7D_HUMAN			6	1069	-			265					Q5T9D0|Q9NWU6|Q9UKU1|Q9ULB9|Q9Y3G3|Q9Y3G4	Missense_Mutation	SNP	ENST00000335791.5	37	c.794C>T	CCDS6883.1	.	.	.	.	.	.	.	.	.	.	G	11.17	1.561163	0.27915	.	.	ENSG00000136840	ENST00000541933;ENST00000335791;ENST00000343609;ENST00000361444	T;T;T	0.29917	1.55;1.55;1.55	5.09	3.21	0.36854	.	0.367695	0.30051	N	0.010522	T	0.12008	0.0292	N	0.04090	-0.28	0.21841	N	0.999513	B	0.09022	0.002	B	0.10450	0.005	T	0.25537	-1.0129	10	0.16896	T	0.51	-23.253	6.947	0.24524	0.3342:0.0:0.6658:0.0	.	265	Q9H4F1	SIA7D_HUMAN	V	181;265;181;181	ENSP00000336733:A265V;ENSP00000340382:A181V;ENSP00000355130:A181V	ENSP00000336733:A265V	A	-	2	0	ST6GALNAC4	129710607	0.001000	0.12720	0.824000	0.32777	0.952000	0.60782	0.922000	0.28734	1.277000	0.44412	0.561000	0.74099	GCA		0.637	ST6GALNAC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054317.2	NM_175040		4	62	0	0	0	1	0	4	62					A	130670786	G	A	130670786	3	1	337	1	0	0	0	0	1	0	0	0	15225	1319	46	3	118	3	ST6GALNAC4	9	130670786	Missense_Mutation	SNP	G	TCGA-KK-A8I9-01A-11D-A364-08	51553477	130670786	10542645	27	17069											
LARP4B	23185	broad.mit.edu	37	chr10	871034	871034	+	Frame_Shift_Del	DEL	G	G	-																															cctaaaccaggagaggattcGagactgcctggctccacacg																										TCGA-KK-A8I9-01A-11D-A364-08	TCGA-KK-A8I9-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bebc84b6-9179-420b-8207-858b999e8c0c	50b1e243-b45a-42a1-8692-b7ae5d51250f	g.chr10:871034delG	ENST00000316157.3	-	12	1495	c.1455delC	c.(1453-1455)ctcfs	p.L485fs		NM_015155.1	NP_055970.1	Q92615	LAR4B_HUMAN	La ribonucleoprotein domain family, member 4B	485					positive regulation of translation (GO:0045727)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleolus (GO:0005730)|polysomal ribosome (GO:0042788)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(2)|skin(2)|urinary_tract(2)	38						GAGAGGATTCGAGACTGCCTG	0.433																																						ENST00000316157.3																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(2)|skin(2)|urinary_tract(2)	38						c.(1453-1455)ctfs		La ribonucleoprotein domain family, member 4B							82	85	84					10																	871034		2203	4300	6503	SO:0001589	frameshift_variant	23185						nucleotide binding|RNA binding	g.chr10:871034delG	D86971	CCDS31131.1	10p15.3	2011-08-24	2009-06-09	2009-06-09	ENSG00000107929	ENSG00000107929		"La ribonucleoprotein domain containing"	28987	protein-coding gene	gene with protein product			"KIAA0217", "La ribonucleoprotein domain family, member 5"	KIAA0217, LARP5		9039502, 20573744	Standard	NM_015155		Approved		uc031ptb.1	Q92615	OTTHUMG00000017534	ENST00000316157.3:c.1455delC	10.37:g.871034delG	ENSP00000326128:p.Leu485fs						p.L485fs	NM_015155.1	NP_055970.1	Q92615	LAR4B_HUMAN			12	1495	-			485					A7MD20|Q5T3R3|Q5T3R4|Q5T3R5|Q68CY4	Frame_Shift_Del	DEL	ENST00000316157.3	37	c.1455delC	CCDS31131.1																																																																																				0.433	LARP4B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046395.2	NM_015155		18	81						18	81	---	---	---	---	-	871034	G	-	871034	7	5	337	1	0	1	0	1	0	0	0	0	8631	1045	37	0	785	0	LARP4B	10	871034	Frame_Shift_Del	DEL	G	TCGA-KK-A8I9-01A-11D-A364-08		871034	134663713	28	17070											
ARHGAP21	57584	broad.mit.edu	37	chr10	24909693	24909693	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgtgctgatgggaatttggCgaatagtgattaacagatac	13	12	12	4	1	0	3	0	2	0	1	0	5	0	4	0	2	3	1	0	2	5	4			TCGA-KK-A8I9-01A-11D-A364-08	TCGA-KK-A8I9-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bebc84b6-9179-420b-8207-858b999e8c0c	50b1e243-b45a-42a1-8692-b7ae5d51250f	g.chr10:24909693C>T	ENST00000396432.2	-	9	1617	c.1131G>A	c.(1129-1131)tcG>tcA	p.S377S	ARHGAP21_ENST00000320481.6_Silent_p.S164S	NM_020824.3	NP_065875.3	Q5T5U3	RHG21_HUMAN	Rho GTPase activating protein 21	376					establishment of Golgi localization (GO:0051683)|Golgi organization (GO:0007030)|maintenance of Golgi location (GO:0051684)|organelle transport along microtubule (GO:0072384)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1)	78						GGGAATTTGGCGAATAGTGAT	0.383																																						ENST00000396432.2																			0				NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1)	78						c.(1129-1131)tcG>tcA		Rho GTPase activating protein 21							68	66	67					10																	24909693		2203	4300	6503	SO:0001819	synonymous_variant	57584				signal transduction	cell junction|cytoplasmic vesicle membrane|cytoskeleton|Golgi membrane	GTPase activator activity|protein binding	g.chr10:24909693C>T	AF480466	CCDS7144.2	10p12.31	2013-01-10			ENSG00000107863	ENSG00000107863		"Rho GTPase activating proteins", "Pleckstrin homology (PH) domain containing"	23725	protein-coding gene	gene with protein product		609870				12056806	Standard	NM_020824		Approved	KIAA1424, ARHGAP10	uc001isb.2	Q5T5U3	OTTHUMG00000017825	ENST00000396432.2:c.1131G>A	10.37:g.24909693C>T						ARHGAP21_ENST00000320481.6_Silent_p.S164S	p.S377S	NM_020824.3	NP_065875.3	Q5T5U3	RHG21_HUMAN			9	1617	-			376					Q0VF98|Q7Z3P7|Q8N3A2|Q8NI19|Q8TBV5|Q9P2C3	Silent	SNP	ENST00000396432.2	37	c.1131G>A	CCDS7144.2																																																																																				0.383	ARHGAP21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047229.4	NM_020824		3	59	0	0	0	1	0	3	59					T	24909693	C	T	24909693	2	4	337	1	0	0	0	0	0	0	0	1	871	755	27	1		1	ARHGAP21	10	24909693	Silent	SNP	C	TCGA-KK-A8I9-01A-11D-A364-08	24038659	24909693	110625054	29	17071											
CUL2	8453	broad.mit.edu	37	chr10	35305223	35305223	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgtcctgaagctctttataaCtgacagtttcactgttgtta	9	17	7	8	0	2	2	1	2	1	0	3	2	3	2	1	0	2	4	1	0	4	6			TCGA-KK-A8I9-01A-11D-A364-08	TCGA-KK-A8I9-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bebc84b6-9179-420b-8207-858b999e8c0c	50b1e243-b45a-42a1-8692-b7ae5d51250f	g.chr10:35305223C>G	ENST00000374748.1	-	19	2097	c.1784G>C	c.(1783-1785)aGt>aCt	p.S595T	CUL2_ENST00000537177.1_Missense_Mutation_p.S614T|CUL2_ENST00000602371.1_Missense_Mutation_p.S538T|CUL2_ENST00000374746.1_Missense_Mutation_p.S595T|CUL2_ENST00000374751.3_Missense_Mutation_p.S595T|CUL2_ENST00000374742.1_Missense_Mutation_p.S595T|CUL2_ENST00000374749.3_Missense_Mutation_p.S595T			Q13617	CUL2_HUMAN	cullin 2	595					cell cycle arrest (GO:0007050)|cellular response to hypoxia (GO:0071456)|G1/S transition of mitotic cell cycle (GO:0000082)|intrinsic apoptotic signaling pathway (GO:0097193)|negative regulation of cell proliferation (GO:0008285)|protein ubiquitination (GO:0016567)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	Cul2-RING ubiquitin ligase complex (GO:0031462)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|VCB complex (GO:0030891)	ubiquitin protein ligase binding (GO:0031625)			breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|prostate(2)|skin(1)|urinary_tract(2)	31						CTCTTTATAACTGACAGTTTC	0.353																																						ENST00000374748.1																			0				breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|prostate(2)|skin(1)|urinary_tract(2)	31						c.(1783-1785)aGt>aCt		cullin 2							143	123	130					10																	35305223		2203	4300	6503	SO:0001583	missense	8453				cell cycle arrest|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex	ubiquitin protein ligase binding	g.chr10:35305223C>G	U83410	CCDS7179.1, CCDS73086.1	10p11.2	2011-05-24			ENSG00000108094	ENSG00000108094			2552	protein-coding gene	gene with protein product		603135				8681378	Standard	NM_003591		Approved		uc021ppa.1	Q13617	OTTHUMG00000017950	ENST00000374748.1:c.1784G>C	10.37:g.35305223C>G	ENSP00000363880:p.Ser595Thr					CUL2_ENST00000374742.1_Missense_Mutation_p.S595T|CUL2_ENST00000602371.1_Missense_Mutation_p.S538T|CUL2_ENST00000374751.3_Missense_Mutation_p.S595T|CUL2_ENST00000374749.3_Missense_Mutation_p.S595T|CUL2_ENST00000537177.1_Missense_Mutation_p.S614T|CUL2_ENST00000374746.1_Missense_Mutation_p.S595T	p.S595T			Q13617	CUL2_HUMAN			19	2097	-			595					B3KT95|B7Z6K8|D3DRY6|G3V1S2|O00200|Q5T2B6|Q9UNF9	Missense_Mutation	SNP	ENST00000374748.1	37	c.1784G>C	CCDS7179.1	.	.	.	.	.	.	.	.	.	.	C	3.262	-0.150889	0.06585	.	.	ENSG00000108094	ENST00000374751;ENST00000374748;ENST00000374746;ENST00000374749;ENST00000374754;ENST00000374742;ENST00000537177	T;T;T;T;T;T	0.71698	-0.59;-0.59;-0.59;-0.59;-0.59;-0.59	5.71	4.78	0.61160	Cullin, N-terminal (1);Winged helix-turn-helix transcription repressor DNA-binding (1);Cullin homology (2);	0.087725	0.85682	D	0.000000	T	0.36468	0.0968	N	0.01417	-0.88	0.50039	D	0.999848	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.06405	0.002;0.001;0.002	T	0.46638	-0.9177	10	0.02654	T	1	-8.6391	11.7344	0.51757	0.1379:0.7294:0.1327:0.0	.	595;614;595	Q5T2B5;G3V1S2;Q13617	.;.;CUL2_HUMAN	T	595;595;595;595;538;595;614	ENSP00000363883:S595T;ENSP00000363880:S595T;ENSP00000363878:S595T;ENSP00000363881:S595T;ENSP00000363874:S595T;ENSP00000444856:S614T	ENSP00000363874:S595T	S	-	2	0	CUL2	35345229	1.000000	0.71417	1.000000	0.80357	0.764000	0.43329	3.353000	0.52247	2.697000	0.92050	0.591000	0.81541	AGT		0.353	CUL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047538.1	NM_003591		22	48	0	0	0	1	0	22	48					G	35305223	C	G	35305223	3	3	337	1	0	0	0	0	1	0	0	0	4055	565	20	5	469	5	CUL2	10	35305223	Missense_Mutation	SNP	C	TCGA-KK-A8I9-01A-11D-A364-08	10395530	35305223	100229524	30	17072											
LCOR	84458	broad.mit.edu	37	chr10	98715014	98715014	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtatgaagttcaggggaaatGgtgcactcagcaacatcagt	13	9	12	7	0	3	1	3	1	0	0	3	2	3	2	0	3	3	4	0	3	4	2			TCGA-KK-A8I9-01A-11D-A364-08	TCGA-KK-A8I9-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bebc84b6-9179-420b-8207-858b999e8c0c	50b1e243-b45a-42a1-8692-b7ae5d51250f	g.chr10:98715014G>A	ENST00000371097.4	+	8	1183	c.637G>A	c.(637-639)Ggt>Agt	p.G213S	LCOR_ENST00000540664.1_Missense_Mutation_p.G213S|LCOR_ENST00000356016.3_Missense_Mutation_p.G213S|LCOR_ENST00000498444.1_Intron|LCOR_ENST00000371103.3_Missense_Mutation_p.G213S			Q96JN0	LCOR_HUMAN	ligand dependent nuclear receptor corepressor	213					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|kidney(1)|large_intestine(3)|lung(1)|ovary(3)|prostate(1)|urinary_tract(1)	13		Colorectal(252;0.162)		Epithelial(162;4.43e-09)|all cancers(201;2.96e-07)		CAGGGGAAATGGTGCACTCAG	0.423																																						ENST00000540664.1																			0				endometrium(3)|kidney(1)|large_intestine(3)|lung(1)|ovary(3)|prostate(1)|urinary_tract(1)	13						c.(637-639)Ggt>Agt		ligand dependent nuclear receptor corepressor							70	68	69					10																	98715014		2203	4300	6503	SO:0001583	missense	84458							g.chr10:98715014G>A		CCDS7451.1, CCDS53561.1	10q24	2006-06-28			ENSG00000196233	ENSG00000196233			29503	protein-coding gene	gene with protein product		607698				12535528, 15193453	Standard	NM_001170765		Approved	MLR2, FLJ38026, KIAA1795		Q96JN0	OTTHUMG00000018841	ENST00000371097.4:c.637G>A	10.37:g.98715014G>A	ENSP00000360138:p.Gly213Ser					LCOR_ENST00000356016.3_Missense_Mutation_p.G213S|LCOR_ENST00000371097.4_Missense_Mutation_p.G213S|LCOR_ENST00000498444.1_Intron|LCOR_ENST00000371103.3_Missense_Mutation_p.G213S	p.G213S	NM_001170765.1|NM_001170766.1	NP_001164236.1|NP_001164237.1				Epithelial(162;4.43e-09)|all cancers(201;2.96e-07)	8	1180	+		Colorectal(252;0.162)						D3DR47|Q5VW16|Q7Z723|Q86T32|Q86T33|Q8N3L6	Missense_Mutation	SNP	ENST00000371097.4	37	c.637G>A	CCDS7451.1	.	.	.	.	.	.	.	.	.	.	G	15.44	2.834337	0.50951	.	.	ENSG00000196233	ENST00000540664;ENST00000371103;ENST00000371097;ENST00000356016	.	.	.	5.34	5.34	0.76211	.	0.279604	0.37178	N	0.002208	T	0.43055	0.1230	N	0.08118	0	0.37750	D	0.925942	B;B	0.23058	0.047;0.079	B;B	0.25140	0.043;0.058	T	0.45454	-0.9260	9	0.54805	T	0.06	-3.922	19.4065	0.94649	0.0:0.0:1.0:0.0	.	213;213	Q96JN0;Q96JN0-2	LCOR_HUMAN;.	S	213	.	ENSP00000348298:G213S	G	+	1	0	LCOR	98705004	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.955000	0.56715	2.663000	0.90544	0.650000	0.86243	GGT		0.423	LCOR-009	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049628.2			4	54	0	0	0	1	0	4	54					A	98715014	G	A	98715014	3	1	337	1	0	0	0	0	1	0	0	0	8689	1348	47	3	647	3	LCOR	10	98715014	Missense_Mutation	SNP	G	TCGA-KK-A8I9-01A-11D-A364-08	63409791	98715014	36819733	31	17073											
PKD2L1	9033	broad.mit.edu	37	chr10	102050257	102050257	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tagatcggcctagtttctcaAtctcagtgttgagggccacc	8	12	10	11	1	2	2	2	1	2	1	5	2	2	2	3	2	0	2	3	2	3	4	rs143580376		TCGA-KK-A8I9-01A-11D-A364-08	TCGA-KK-A8I9-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bebc84b6-9179-420b-8207-858b999e8c0c	50b1e243-b45a-42a1-8692-b7ae5d51250f	g.chr10:102050257A>G	ENST00000318222.3	-	13	2409	c.2027T>C	c.(2026-2028)aTt>aCt	p.I676T	PKD2L1_ENST00000338519.3_Missense_Mutation_p.I601T|PKD2L1_ENST00000353274.3_Missense_Mutation_p.I676T	NM_001253837.1|NM_016112.2	NP_001240766.1|NP_057196.2	Q9P0L9	PK2L1_HUMAN	polycystic kidney disease 2-like 1	676					cation transport (GO:0006812)|cellular response to acidic pH (GO:0071468)|detection of chemical stimulus involved in sensory perception of sour taste (GO:0001581)|detection of mechanical stimulus (GO:0050982)|potassium ion transmembrane transport (GO:0071805)|protein homotrimerization (GO:0070207)|sensory perception of sour taste (GO:0050915)|smoothened signaling pathway (GO:0007224)|sodium ion transmembrane transport (GO:0035725)	calcium channel complex (GO:0034704)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nonmotile primary cilium (GO:0031513)|plasma membrane (GO:0005886)	alpha-actinin binding (GO:0051393)|calcium activated cation channel activity (GO:0005227)|calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-activated potassium channel activity (GO:0015269)|cation channel activity (GO:0005261)|cytoskeletal protein binding (GO:0008092)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|sodium channel activity (GO:0005272)|sour taste receptor activity (GO:0033040)			NS(2)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	43		Colorectal(252;0.117)		Epithelial(162;6.15e-10)|all cancers(201;5.14e-08)		TAGTTTCTCAATCTCAGTGTT	0.527													A|||	1	0.000199681	0	0.0014	5008	,	,		20152	0		0	False		,,,				2504	0					ENST00000318222.3																			0				NS(2)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	43						c.(2026-2028)aTt>aCt		polycystic kidney disease 2-like 1		A	THR/ILE	3,4403	6.2+/-15.9	0,3,2200	68	57	61		2027	1.3	1	10	dbSNP_134	61	0,8600		0,0,4300	no	missense	PKD2L1	NM_016112.2	89	0,3,6500	GG,GA,AA		0.0,0.0681,0.0231	benign	676/806	102050257	3,13003	2203	4300	6503	SO:0001583	missense	9033				signal transduction	integral to membrane	calcium activated cation channel activity|calcium ion binding|cytoskeletal protein binding	g.chr10:102050257A>G	AF094827	CCDS7492.1	10q24.31	2011-12-16			ENSG00000107593	ENSG00000107593		"Voltage-gated ion channels / Transient receptor potential cation channels"	9011	protein-coding gene	gene with protein product	"transient receptor potential cation channel, subfamily P, member 3"	604532		PKD2L, PKDL		9878261, 9748274	Standard	NM_016112		Approved	PCL, TRPP3	uc001kqx.1	Q9P0L9	OTTHUMG00000018910	ENST00000318222.3:c.2027T>C	10.37:g.102050257A>G	ENSP00000325296:p.Ile676Thr					PKD2L1_ENST00000353274.3_Missense_Mutation_p.I676T|PKD2L1_ENST00000338519.3_Missense_Mutation_p.I601T	p.I676T	NM_001253837.1|NM_016112.2	NP_001240766.1|NP_057196.2	Q9P0L9	PK2L1_HUMAN		Epithelial(162;6.15e-10)|all cancers(201;5.14e-08)	13	2409	-		Colorectal(252;0.117)	676					O75972|Q5W039|Q9UP35|Q9UPA2	Missense_Mutation	SNP	ENST00000318222.3	37	c.2027T>C	CCDS7492.1	.	.	.	.	.	.	.	.	.	.	A	7.069	0.567949	0.13560	6.81E-4	0.0	ENSG00000107593	ENST00000338519;ENST00000353274;ENST00000318222;ENST00000339977	D;D;D	0.82344	-1.6;-1.6;-1.6	5.05	1.27	0.21489	.	0.266592	0.35739	N	0.003001	T	0.77698	0.4169	M	0.68593	2.085	0.28813	N	0.898137	B;B	0.20052	0.041;0.001	B;B	0.25884	0.064;0.015	T	0.63651	-0.6589	10	0.21540	T	0.41	-2.169	8.4943	0.33119	0.7631:0.0:0.2369:0.0	.	629;676	Q1L4F0;Q9P0L9	.;PK2L1_HUMAN	T	601;676;676;674	ENSP00000345068:I601T;ENSP00000266049:I676T;ENSP00000325296:I676T	ENSP00000325296:I676T	I	-	2	0	PKD2L1	102040247	1.000000	0.71417	0.991000	0.47740	0.178000	0.23041	0.806000	0.27126	-0.028000	0.13850	0.260000	0.18958	ATT		0.527	PKD2L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049863.2	NM_016112		5	28	0	0	0	1	0	5	28					G	102050257	A	G	102050257	3	3	337	1	0	0	0	0	1	0	0	0	11967	101	4	4	406	4	PKD2L1	10	102050257	Missense_Mutation	SNP	A	TCGA-KK-A8I9-01A-11D-A364-08	3335243	102050257	33484490	32	17074											
C10orf79	80217	broad.mit.edu	37	chr10	105953648	105953648	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cgtgctgcacggacgattccGagagaaaggccttgtgcacg	9	7	14	11	5	0	1	0	0	0	1	1	5	1	2	2	2	3	3	2	2	1	2			TCGA-KK-A8I9-01A-11D-A364-08	TCGA-KK-A8I9-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bebc84b6-9179-420b-8207-858b999e8c0c	50b1e243-b45a-42a1-8692-b7ae5d51250f	g.chr10:105953648G>A	ENST00000278064.2	-	11	1536	c.1211C>T	c.(1210-1212)tCg>tTg	p.S404L	WDR96_ENST00000428666.1_Missense_Mutation_p.S474L|WDR96_ENST00000357060.3_Missense_Mutation_p.S473L|WDR96_ENST00000369720.1_Missense_Mutation_p.S404L														p.S473L(1)		NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(14)|lung(21)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						GGACGATTCCGAGAGAAAGGC	0.552																																						ENST00000357060.3																			1	Substitution - Missense(1)	p.S473L(1)	endometrium(1)	NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(14)|lung(21)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						c.(1417-1419)tCg>tTg		WD repeat domain 96							89	66	74					10																	105953648		2203	4300	6503	SO:0001583	missense	80217							g.chr10:105953648G>A																												ENST00000278064.2:c.1211C>T	10.37:g.105953648G>A	ENSP00000278064:p.Ser404Leu					WDR96_ENST00000278064.2_Missense_Mutation_p.S404L|WDR96_ENST00000369720.1_Missense_Mutation_p.S404L|WDR96_ENST00000428666.1_Missense_Mutation_p.S474L	p.S473L	NM_025145.5	NP_079421.5	Q8NDM7	WDR96_HUMAN			11	1533	-			473						Missense_Mutation	SNP	ENST00000278064.2	37	c.1418C>T		.	.	.	.	.	.	.	.	.	.	G	23.9	4.472160	0.84533	.	.	ENSG00000197748	ENST00000357060;ENST00000428666;ENST00000278064;ENST00000369720	T;T;T;T	0.29142	1.62;1.62;1.62;1.58	4.93	4.93	0.64822	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.36893	N	0.002356	T	0.50633	0.1627	M	0.70595	2.14	0.34622	D	0.718697	D;D	0.76494	0.999;0.993	P;P	0.62560	0.904;0.61	T	0.62210	-0.6902	10	0.45353	T	0.12	.	14.3675	0.66815	0.0:0.0:1.0:0.0	.	474;473	B4DHB6;Q8NDM7	.;WDR96_HUMAN	L	473;474;404;404	ENSP00000349568:S473L;ENSP00000400289:S474L;ENSP00000278064:S404L;ENSP00000358734:S404L	ENSP00000278064:S404L	S	-	2	0	WDR96	105943638	0.985000	0.35326	0.688000	0.30117	0.057000	0.15508	2.513000	0.45494	2.652000	0.90054	0.650000	0.86243	TCG		0.552	WDR96-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000050200.1			5	41	0	0	0	1	0	5	41					A	105953648	G	A	105953648	3	1	337	1	0	0	0	0	1	0	0	0	1618	1059	37	2	3691	2	C10orf79	10	105953648	Missense_Mutation	SNP	G	TCGA-KK-A8I9-01A-11D-A364-08	3903391	105953648	29581099	33	17075											
PPFIBP2	8495	broad.mit.edu	37	chr11	7662824	7662824	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	accagatggtaaacggaatcCcaaaggcattaagaagttct	16	8	9	8	1	1	2	0	0	1	2	2	3	2	3	2	3	1	3	2	3	6	3			TCGA-KK-A8I9-01A-11D-A364-08	TCGA-KK-A8I9-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bebc84b6-9179-420b-8207-858b999e8c0c	50b1e243-b45a-42a1-8692-b7ae5d51250f	g.chr11:7662824C>G	ENST00000299492.4	+	16	1878	c.1490C>G	c.(1489-1491)cCc>cGc	p.P497R	PPFIBP2_ENST00000528883.1_Missense_Mutation_p.P385R|PPFIBP2_ENST00000530181.1_Missense_Mutation_p.P354R|PPFIBP2_ENST00000530582.1_3'UTR|PPFIBP2_ENST00000533792.1_Missense_Mutation_p.P339R	NM_003621.3	NP_003612	Q8ND30	LIPB2_HUMAN	PTPRF interacting protein, binding protein 2 (liprin beta 2)	497					cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|intracellular (GO:0005622)|presynaptic active zone (GO:0048786)	DNA binding (GO:0003677)|integrase activity (GO:0008907)			breast(8)|cervix(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32				Epithelial(150;2.01e-07)|BRCA - Breast invasive adenocarcinoma(625;0.236)		AAACGGAATCCCAAAGGCATT	0.448																																						ENST00000299492.4																			0				breast(8)|cervix(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32						c.(1489-1491)cCc>cGc		PTPRF interacting protein, binding protein 2 (liprin beta 2)							144	129	134					11																	7662824		2201	4296	6497	SO:0001583	missense	8495				cell communication|DNA integration	intracellular	DNA binding|integrase activity|protein binding	g.chr11:7662824C>G	AF034803	CCDS31419.1, CCDS58116.1, CCDS58117.1	11p15.4	2013-01-10			ENSG00000166387	ENSG00000166387		"Sterile alpha motif (SAM) domain containing"	9250	protein-coding gene	gene with protein product		603142				9624153	Standard	NM_003621		Approved	Cclp1	uc001mfj.5	Q8ND30	OTTHUMG00000165617	ENST00000299492.4:c.1490C>G	11.37:g.7662824C>G	ENSP00000299492:p.Pro497Arg					PPFIBP2_ENST00000530181.1_Missense_Mutation_p.P354R|PPFIBP2_ENST00000533792.1_Missense_Mutation_p.P339R|PPFIBP2_ENST00000528883.1_Missense_Mutation_p.P385R|PPFIBP2_ENST00000530582.1_3'UTR	p.P497R	NM_003621.3	NP_003612.2	Q8ND30	LIPB2_HUMAN		Epithelial(150;2.01e-07)|BRCA - Breast invasive adenocarcinoma(625;0.236)	16	1878	+			497					B7Z433|E9PK77|O75337|Q8WW26	Missense_Mutation	SNP	ENST00000299492.4	37	c.1490C>G	CCDS31419.1	.	.	.	.	.	.	.	.	.	.	C	18.53	3.643960	0.67244	.	.	ENSG00000166387	ENST00000299492;ENST00000533792;ENST00000537467;ENST00000541115;ENST00000528883;ENST00000530181;ENST00000530081	T;T;T;T	0.29917	1.97;1.55;1.97;1.55	6.03	6.03	0.97812	.	0.000000	0.85682	D	0.000000	T	0.47746	0.1462	L	0.56769	1.78	0.45648	D	0.998578	P;P;P;D;D;D	0.71674	0.745;0.956;0.835;0.989;0.998;0.967	B;P;B;P;P;B	0.58780	0.215;0.649;0.386;0.845;0.845;0.325	T	0.10451	-1.0629	10	0.26408	T	0.33	-20.9133	18.0605	0.89375	0.0:1.0:0.0:0.0	.	385;385;420;339;354;497	E9PK77;B7Z433;F5GWB0;E9PP16;E9PMU1;Q8ND30	.;.;.;.;.;LIPB2_HUMAN	R	497;339;339;420;385;354;158	ENSP00000299492:P497R;ENSP00000436498:P339R;ENSP00000435469:P385R;ENSP00000437321:P354R	ENSP00000299492:P497R	P	+	2	0	PPFIBP2	7619400	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.340000	0.52143	2.854000	0.98071	0.655000	0.94253	CCC		0.448	PPFIBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385345.2	NM_003621		10	91	0	0	0	1	0	10	91					G	7662824	C	G	7662824	3	3	337	1	0	0	0	0	1	0	0	0	12314	623	22	5	1548	5	PPFIBP2	11	7662824	Missense_Mutation	SNP	C	TCGA-KK-A8I9-01A-11D-A364-08		7662824	127343692	34	17076											
INTS5	80789	broad.mit.edu	37	chr11	62414787	62414787	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	catgcatattacccagggccGgaggcaggaggcttccctca	9	7	12	13	1	1	0	1	0	0	0	2	2	2	2	3	5	2	3	3	5	2	3	rs530708205		TCGA-KK-A8I9-01A-11D-A364-08	TCGA-KK-A8I9-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bebc84b6-9179-420b-8207-858b999e8c0c	50b1e243-b45a-42a1-8692-b7ae5d51250f	g.chr11:62414787G>A	ENST00000330574.2	-	2	2817	c.2765C>T	c.(2764-2766)cCg>cTg	p.P922L	GANAB_ENST00000540933.1_5'Flank|GANAB_ENST00000346178.4_5'Flank|GANAB_ENST00000356638.3_5'Flank|GANAB_ENST00000534779.1_5'Flank	NM_030628.1	NP_085131.1	Q6P9B9	INT5_HUMAN	integrator complex subunit 5	922					snRNA processing (GO:0016180)	integral component of membrane (GO:0016021)|integrator complex (GO:0032039)|membrane (GO:0016020)				breast(1)|endometrium(4)|large_intestine(6)|lung(20)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	36						ACCCAGGGCCGGAGGCAGGAG	0.612																																						ENST00000330574.2																			0				breast(1)|endometrium(4)|large_intestine(6)|lung(20)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	36						c.(2764-2766)cCg>cTg		integrator complex subunit 5							109	121	117					11																	62414787		2202	4299	6501	SO:0001583	missense	80789				snRNA processing	integral to membrane|integrator complex	protein binding	g.chr11:62414787G>A	AK123587	CCDS8027.1	11q12.3	2006-04-26	2006-03-15	2006-03-15	ENSG00000185085	ENSG00000185085			29352	protein-coding gene	gene with protein product		611349	"KIAA1698"	KIAA1698		16239144	Standard	NM_030628		Approved	INT5	uc001nud.3	Q6P9B9	OTTHUMG00000167605	ENST00000330574.2:c.2765C>T	11.37:g.62414787G>A	ENSP00000327889:p.Pro922Leu						p.P922L	NM_030628.1	NP_085131.1	Q6P9B9	INT5_HUMAN			2	2817	-			922					Q8N6W5|Q9C0G5	Missense_Mutation	SNP	ENST00000330574.2	37	c.2765C>T	CCDS8027.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.159196	0.78226	.	.	ENSG00000185085	ENST00000330574	.	.	.	5.96	5.96	0.96718	.	0.000000	0.85682	D	0.000000	T	0.78755	0.4333	M	0.67397	2.05	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.79441	-0.1802	9	0.87932	D	0	-9.4519	17.8981	0.88895	0.0:0.0:1.0:0.0	.	922	Q6P9B9	INT5_HUMAN	L	922	.	ENSP00000327889:P922L	P	-	2	0	INTS5	62171363	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.363000	0.97131	2.823000	0.97156	0.650000	0.86243	CCG		0.612	INTS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395327.1	NM_030628		5	138	0	0	0	1	0	5	138					A	62414787	G	A	62414787	3	1	337	1	0	0	0	0	1	0	0	0	7781	1116	39	2	298	2	INTS5	11	62414787	Missense_Mutation	SNP	G	TCGA-KK-A8I9-01A-11D-A364-08	54751963	62414787	72591729	35	17077											
KRTAP5-9	3846	broad.mit.edu	37	chr11	71260209	71260209	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtgtgctaccagtgcaagaTctgaggctctagtgggaaac	10	10	13	8	0	2	2	0	1	2	1	2	3	2	3	1	2	4	3	1	2	4	2			TCGA-KK-A8I9-01A-11D-A364-08	TCGA-KK-A8I9-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bebc84b6-9179-420b-8207-858b999e8c0c	50b1e243-b45a-42a1-8692-b7ae5d51250f	g.chr11:71260209T>G	ENST00000528743.2	+	1	744	c.506T>G	c.(505-507)aTc>aGc	p.I169S		NM_005553.3	NP_005544.4	P26371	KRA59_HUMAN	keratin associated protein 5-9	169					epidermis development (GO:0008544)	keratin filament (GO:0045095)				kidney(1)|large_intestine(1)|lung(6)|prostate(3)	11						CAGTGCAAGATCTGAGGCTCT	0.547																																						ENST00000528743.2																			0				kidney(1)|large_intestine(1)|lung(6)|prostate(3)	11						c.(505-507)aTc>aGc		keratin associated protein 5-9							88	90	89					11																	71260209		2200	4293	6493	SO:0001583	missense	3846				epidermis development	keratin filament		g.chr11:71260209T>G	AB126078	CCDS53677.1	11q13.4	2008-02-05				ENSG00000254997		"Keratin associated proteins"	23604	protein-coding gene	gene with protein product		148021		KRN1		15144888	Standard	NM_005553		Approved	KRTAP5.9, KRTAP5-1	uc001oqs.1	P26371		ENST00000528743.2:c.506T>G	11.37:g.71260209T>G	ENSP00000431443:p.Ile169Ser						p.I169S	NM_005553.3	NP_005544.4	P26371	KRA59_HUMAN			1	744	+			169					Q14564|Q3MIP8	Missense_Mutation	SNP	ENST00000528743.2	37	c.506T>G	CCDS53677.1	.	.	.	.	.	.	.	.	.	.	N	9.497	1.102154	0.20632	.	.	ENSG00000254997	ENST00000528743	T	0.04156	3.69	1.69	0.4	0.16331	.	.	.	.	.	T	0.08670	0.0215	M	0.89715	3.055	0.09310	N	1	P	0.34684	0.463	B	0.28849	0.095	T	0.17806	-1.0357	9	0.87932	D	0	.	4.4769	0.11748	0.0:0.0:0.3464:0.6535	.	169	P26371	KRA59_HUMAN	S	169	ENSP00000431443:I169S	ENSP00000431443:I169S	I	+	2	0	KRTAP5-9	70937857	0.443000	0.25641	0.026000	0.17262	0.204000	0.24138	-0.215000	0.09279	0.086000	0.17137	0.323000	0.21402	ATC		0.547	KRTAP5-9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393901.2			35	88	0	0	0	1	0	35	88					G	71260209	T	G	71260209	3	3	337	1	0	0	0	0	1	0	0	0	8568	1435	50	5	508	5	KRTAP5-9	11	71260209	Missense_Mutation	SNP	T	TCGA-KK-A8I9-01A-11D-A364-08	8845422	71260209	63746307	36	17078											
MTMR2	8898	broad.mit.edu	37	chr11	95595463	95595463	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atgcttttgaaatataacctAtaattcgtgacagtcagagt	14	14	7	6	1	1	3	1	2	0	1	2	3	1	3	1	0	2	1	1	0	5	7			TCGA-KK-A8I9-01A-11D-A364-08	TCGA-KK-A8I9-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bebc84b6-9179-420b-8207-858b999e8c0c	50b1e243-b45a-42a1-8692-b7ae5d51250f	g.chr11:95595463A>G	ENST00000346299.5	-	4	670	c.330T>C	c.(328-330)taT>taC	p.Y110Y	MTMR2_ENST00000484818.1_5'UTR|MTMR2_ENST00000352297.7_Silent_p.Y38Y|MTMR2_ENST00000409459.1_Silent_p.Y38Y|MTMR2_ENST00000393223.3_Silent_p.Y38Y	NM_016156.5	NP_057240.3	Q13614	MTMR2_HUMAN	myotubularin related protein 2	110	GRAM.				cell death (GO:0008219)|dendritic spine maintenance (GO:0097062)|inositol phosphate dephosphorylation (GO:0046855)|myelin assembly (GO:0032288)|negative regulation of endocytosis (GO:0045806)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of myelination (GO:0031642)|negative regulation of receptor catabolic process (GO:2000645)|negative regulation of receptor internalization (GO:0002091)|neuron development (GO:0048666)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|positive regulation of early endosome to late endosome transport (GO:2000643)|protein dephosphorylation (GO:0006470)|protein tetramerization (GO:0051262)|small molecule metabolic process (GO:0044281)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|endosome (GO:0005768)|neuronal postsynaptic density (GO:0097481)|nucleus (GO:0005634)|synaptic membrane (GO:0097060)|synaptic vesicle (GO:0008021)|vacuolar membrane (GO:0005774)	phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity (GO:0052629)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	19		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				AATATAACCTATAATTCGTGA	0.363																																						ENST00000393223.3																			0				autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	19						c.(112-114)taT>taC		myotubularin related protein 2							72	72	72					11																	95595463		2201	4298	6499	SO:0001819	synonymous_variant	8898					nucleus	inositol or phosphatidylinositol phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr11:95595463A>G	U58033	CCDS8305.1, CCDS8306.1	11q22	2014-09-17			ENSG00000087053	ENSG00000087053		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"	7450	protein-coding gene	gene with protein product		603557		CMT4B		8640223, 9736772	Standard	NM_016156		Approved	KIAA1073	uc001pfu.3	Q13614	OTTHUMG00000153837	ENST00000346299.5:c.330T>C	11.37:g.95595463A>G						MTMR2_ENST00000352297.7_Silent_p.Y38Y|MTMR2_ENST00000346299.5_Silent_p.Y110Y|MTMR2_ENST00000484818.1_5'UTR|MTMR2_ENST00000409459.1_Silent_p.Y38Y	p.Y38Y	NM_001243571.1|NM_201278.2	NP_001230500.1|NP_958435.1	Q13614	MTMR2_HUMAN			6	776	-		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)	110			Ser-rich.		A6NN98|Q9UPS9	Silent	SNP	ENST00000346299.5	37	c.114T>C	CCDS8305.1																																																																																				0.363	MTMR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332620.1	NM_016156		8	35	0	0	0	1	0	8	35					G	95595463	A	G	95595463	2	3	337	1	0	0	0	0	0	0	0	1	9944	456	16	4		4	MTMR2	11	95595463	Silent	SNP	A	TCGA-KK-A8I9-01A-11D-A364-08	24335254	95595463	39411053	37	17079											
KDELC2	143888	broad.mit.edu	37	chr11	108357013	108357013	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gcacctctctcatccccaaaCcttttggggacttcttttag	7	14	6	14	0	3	0	1	0	2	0	5	1	4	1	4	2	1	1	4	2	2	5			TCGA-KK-A8I9-01A-11D-A364-08	TCGA-KK-A8I9-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bebc84b6-9179-420b-8207-858b999e8c0c	50b1e243-b45a-42a1-8692-b7ae5d51250f	g.chr11:108357013C>A	ENST00000323468.5	-	3	620	c.555G>T	c.(553-555)agG>agT	p.R185S	KDELC2_ENST00000434945.2_Missense_Mutation_p.R129S|KDELC2_ENST00000532730.1_5'Flank|KDELC2_ENST00000375648.1_Missense_Mutation_p.R129S	NM_153705.4	NP_714916.3	Q7Z4H8	KDEL2_HUMAN	KDEL (Lys-Asp-Glu-Leu) containing 2	185				R -> S (in Ref. 1; AAQ09021). {ECO:0000305}.		endoplasmic reticulum (GO:0005783)				breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	13		all_cancers(61;1.38e-11)|all_epithelial(67;3.16e-07)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;6.93e-06)|BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|all cancers(92;0.00016)|OV - Ovarian serous cystadenocarcinoma(223;0.132)|Colorectal(284;0.14)		CATCCCCAAACCTTTTGGGGA	0.418																																						ENST00000434945.2																			0				breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	13						c.(385-387)agG>agT		KDEL (Lys-Asp-Glu-Leu) containing 2							172	156	161					11																	108357013		1857	4099	5956	SO:0001583	missense	143888					endoplasmic reticulum lumen		g.chr11:108357013C>A	AF533708	CCDS41711.1	11q32	2010-11-18			ENSG00000178202	ENSG00000178202			28496	protein-coding gene	gene with protein product						12975309	Standard	NM_153705		Approved	MGC33424	uc001pkj.2	Q7Z4H8	OTTHUMG00000166535	ENST00000323468.5:c.555G>T	11.37:g.108357013C>A	ENSP00000315386:p.Arg185Ser					KDELC2_ENST00000323468.5_Missense_Mutation_p.R185S|KDELC2_ENST00000375648.1_Missense_Mutation_p.R129S	p.R129S			Q7Z4H8	KDEL2_HUMAN		Epithelial(105;6.93e-06)|BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|all cancers(92;0.00016)|OV - Ovarian serous cystadenocarcinoma(223;0.132)|Colorectal(284;0.14)	2	689	-		all_cancers(61;1.38e-11)|all_epithelial(67;3.16e-07)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)	185					Q6UWW2|Q6ZUM9|Q8N7L8|Q8NE24	Missense_Mutation	SNP	ENST00000323468.5	37	c.387G>T	CCDS41711.1	.	.	.	.	.	.	.	.	.	.	C	15.78	2.935003	0.52866	.	.	ENSG00000178202	ENST00000323468;ENST00000434945;ENST00000375648	T;T;T	0.26957	1.7;1.7;1.7	4.68	1.6	0.23607	.	0.089851	0.64402	D	0.000001	T	0.31167	0.0788	M	0.75615	2.305	0.58432	D	0.999998	P;P	0.36837	0.571;0.516	B;B	0.42163	0.378;0.26	T	0.06427	-1.0827	10	0.52906	T	0.07	-11.9237	8.2221	0.31547	0.0:0.7047:0.0:0.2953	.	185;129	Q7Z4H8;Q7Z4H8-2	KDEL2_HUMAN;.	S	185;129;129	ENSP00000315386:R185S;ENSP00000413429:R129S;ENSP00000364799:R129S	ENSP00000315386:R185S	R	-	3	2	KDELC2	107862223	0.957000	0.32711	0.996000	0.52242	0.985000	0.73830	0.050000	0.14120	0.352000	0.24053	0.655000	0.94253	AGG		0.418	KDELC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390273.1	NM_153705		6	95	1	0	0.00307968	1	0.00307968	6	95					A	108357013	C	A	108357013	3	1	337	1	0	0	0	0	1	0	0	0	8118	506	18	5	992	5	KDELC2	11	108357013	Missense_Mutation	SNP	C	TCGA-KK-A8I9-01A-11D-A364-08	12761550	108357013	26649503	38	17080											
SP1	6667	broad.mit.edu	37	chr12	53776771	53776771	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttactaccagtggatcatCagggaccaactctcaaggcc	11	9	8	13	0	3	0	3	0	1	0	4	2	3	2	3	3	3	0	3	3	4	3			TCGA-KK-A8I9-01A-11D-A364-08	TCGA-KK-A8I9-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bebc84b6-9179-420b-8207-858b999e8c0c	50b1e243-b45a-42a1-8692-b7ae5d51250f	g.chr12:53776771C>A	ENST00000327443.4	+	3	1138	c.1040C>A	c.(1039-1041)tCa>tAa	p.S347*	SP1_ENST00000426431.2_Nonsense_Mutation_p.S340*	NM_001251825.1|NM_138473.2	NP_001238754.1|NP_612482.2	P08047	SP1_HUMAN	Sp1 transcription factor	347	Ser/Thr-rich.|Transactivation domain B (Gln-rich).				cellular lipid metabolic process (GO:0044255)|definitive hemopoiesis (GO:0060216)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic placenta development (GO:0001892)|embryonic process involved in female pregnancy (GO:0060136)|embryonic skeletal system development (GO:0048706)|enucleate erythrocyte differentiation (GO:0043353)|gene expression (GO:0010467)|liver development (GO:0001889)|lung development (GO:0030324)|megakaryocyte differentiation (GO:0030219)|ossification (GO:0001503)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|rhythmic process (GO:0048511)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|trophectodermal cell differentiation (GO:0001829)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein-DNA complex (GO:0032993)	bHLH transcription factor binding (GO:0043425)|core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|enhancer binding (GO:0035326)|histone deacetylase binding (GO:0042826)|HMG box domain binding (GO:0071837)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II repressing transcription factor binding (GO:0001103)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|large_intestine(1)|ovary(1)|skin(1)|stomach(1)	5				BRCA - Breast invasive adenocarcinoma(357;0.00527)		AGTGGATCATCAGGGACCAAC	0.498																																						ENST00000426431.2																			0				breast(1)|large_intestine(1)|ovary(1)|skin(1)|stomach(1)	5						c.(1018-1020)tCa>tAa		Sp1 transcription factor							97	93	94					12																	53776771		2203	4300	6503	SO:0001587	stop_gained	0				positive regulation by host of viral transcription|positive regulation of transcription from RNA polymerase II promoter	cytoplasm	double-stranded DNA binding|histone deacetylase binding|HMG box domain binding|protein C-terminus binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding	g.chr12:53776771C>A	J03133	CCDS8857.1, CCDS44898.1	12q13.1	2013-01-08						"Specificity protein transcription factors", "Zinc fingers, C2H2-type"	11205	protein-coding gene	gene with protein product	"specificity protein 1"	189906				1662663	Standard	NM_003109		Approved		uc001scw.3	P08047	OTTHUMG00000170047	ENST00000327443.4:c.1040C>A	12.37:g.53776771C>A	ENSP00000329357:p.Ser347*					SP1_ENST00000327443.4_Nonsense_Mutation_p.S347*	p.S340*	NM_003109.1	NP_003100.1	P08047	SP1_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.00527)	3	1079	+			347			Ser/Thr-rich.|Transactivation domain B (Gln-rich).		E4Z9M7|G5E9M8|Q86TN8|Q9H3Q5|Q9NR51|Q9NY21|Q9NYE7	Nonsense_Mutation	SNP	ENST00000327443.4	37	c.1019C>A	CCDS8857.1	.	.	.	.	.	.	.	.	.	.	C	19.69	3.874899	0.72180	.	.	ENSG00000185591	ENST00000327443;ENST00000426431	.	.	.	4.41	4.41	0.53225	.	0.228496	0.29046	N	0.013317	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	16.3072	0.82854	0.0:1.0:0.0:0.0	.	.	.	.	X	347;340	.	ENSP00000329357:S347X	S	+	2	0	SP1	52063038	0.323000	0.24643	1.000000	0.80357	0.961000	0.63080	2.188000	0.42612	2.471000	0.83476	0.467000	0.42956	TCA		0.498	SP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407044.1			3	34	1	0	6.4e-05	1	6.49697e-05	3	34					A	53776771	C	A	53776771	4	1	337	1	0	0	0	0	0	1	0	0	14959	838	29	5	1050	5	SP1	12	53776771	Nonsense_Mutation	SNP	C	TCGA-KK-A8I9-01A-11D-A364-08		53776771	80075124	39	17081											
TPH2	121278	broad.mit.edu	37	chr12	72372850	72372850	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	atccggcatggctcagatccCctctacaccccagaaccgtg	9	7	8	17	2	2	2	1	0	1	2	4	2	4	2	6	2	2	2	6	2	2	1			TCGA-KK-A8I9-01A-11D-A364-08	TCGA-KK-A8I9-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bebc84b6-9179-420b-8207-858b999e8c0c	50b1e243-b45a-42a1-8692-b7ae5d51250f	g.chr12:72372850C>T	ENST00000333850.3	+	7	1065	c.924C>T	c.(922-924)ccC>ccT	p.P308P		NM_173353.3	NP_775489.2	Q8IWU9	TPH2_HUMAN	tryptophan hydroxylase 2	308					aromatic amino acid family metabolic process (GO:0009072)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to lithium ion (GO:0071285)|circadian rhythm (GO:0007623)|indolalkylamine biosynthetic process (GO:0046219)|response to activity (GO:0014823)|response to calcium ion (GO:0051592)|response to estrogen (GO:0043627)|response to glucocorticoid (GO:0051384)|response to nutrient levels (GO:0031667)|serotonin biosynthetic process (GO:0042427)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|neuron projection (GO:0043005)	amino acid binding (GO:0016597)|iron ion binding (GO:0005506)|tryptophan 5-monooxygenase activity (GO:0004510)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	41					L-Tryptophan(DB00150)	GCTCAGATCCCCTCTACACCC	0.532																																						ENST00000333850.3																			0				breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	41						c.(922-924)ccC>ccT		tryptophan hydroxylase 2	L-Tryptophan(DB00150)						138	136	136					12																	72372850		2203	4300	6503	SO:0001819	synonymous_variant	121278				aromatic amino acid family metabolic process|hormone biosynthetic process|serotonin biosynthetic process	cytosol	amino acid binding|iron ion binding|tryptophan 5-monooxygenase activity	g.chr12:72372850C>T	AY098914	CCDS31859.1	12q15	2008-02-07				ENSG00000139287	1.14.16.4		20692	protein-coding gene	gene with protein product		607478				12511643	Standard	NM_173353		Approved	NTPH, FLJ37295	uc009zrw.1	Q8IWU9		ENST00000333850.3:c.924C>T	12.37:g.72372850C>T							p.P308P	NM_173353.3	NP_775489.2	Q8IWU9	TPH2_HUMAN			7	1065	+			308					A6NGA4|Q14CB0	Silent	SNP	ENST00000333850.3	37	c.924C>T	CCDS31859.1																																																																																				0.532	TPH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405234.1	NM_173353		10	123	0	0	0	1	0	10	123					T	72372850	C	T	72372850	2	4	337	1	0	0	0	0	0	0	0	1	16399	610	22	3		3	TPH2	12	72372850	Silent	SNP	C	TCGA-KK-A8I9-01A-11D-A364-08	18596079	72372850	61479045	40	17082											
IFT81	28981	broad.mit.edu	37	chr12	110618302	110618302	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atcagataatagctgaacttAaagctgaattcggtcttttg	13	14	8	6	1	2	3	1	2	1	1	3	3	2	3	0	1	3	2	0	1	6	6			TCGA-KK-A8I9-01A-11D-A364-08	TCGA-KK-A8I9-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bebc84b6-9179-420b-8207-858b999e8c0c	50b1e243-b45a-42a1-8692-b7ae5d51250f	g.chr12:110618302A>G	ENST00000242591.5	+	12	1770	c.1264A>G	c.(1264-1266)Aaa>Gaa	p.K422E	IFT81_ENST00000552912.1_Missense_Mutation_p.K422E	NM_014055.3	NP_054774.2	Q8WYA0	IFT81_HUMAN	intraflagellar transport 81	422					cilium assembly (GO:0042384)|intraciliary transport involved in cilium morphogenesis (GO:0035735)|spermatogenesis (GO:0007283)	centrosome (GO:0005813)|cilium (GO:0005929)|intraciliary transport particle B (GO:0030992)|motile cilium (GO:0031514)|sperm midpiece (GO:0097225)|sperm principal piece (GO:0097228)	tubulin binding (GO:0015631)			endometrium(1)|large_intestine(2)|lung(5)|ovary(1)|stomach(1)	10						AGCTGAACTTAAAGCTGAATT	0.328																																						ENST00000242591.5																			0				endometrium(1)|large_intestine(2)|lung(5)|ovary(1)|stomach(1)	10						c.(1264-1266)Aaa>Gaa		intraflagellar transport 81 homolog (Chlamydomonas)							89	80	83					12																	110618302		1832	4083	5915	SO:0001583	missense	28981				cell differentiation|multicellular organismal development|spermatogenesis	intraflagellar transport particle B|microtubule-based flagellum		g.chr12:110618302A>G	AF139540	CCDS9142.1, CCDS41831.1	12q24.13	2014-07-03	2014-07-03	2005-11-02		ENSG00000122970		"Intraflagellar transport homologs"	14313	protein-coding gene	gene with protein product		605489	"carnitine deficiency-associated, expressed in ventricle 1", "intraflagellar transport 81 homolog (Chlamydomonas)"	CDV1		11130971	Standard	NM_014055		Approved	CDV-1R, MGC4027	uc001tqi.3	Q8WYA0	OTTHUMG00000169326	ENST00000242591.5:c.1264A>G	12.37:g.110618302A>G	ENSP00000242591:p.Lys422Glu					IFT81_ENST00000552912.1_Missense_Mutation_p.K422E	p.K422E	NM_014055.3	NP_054774.2	Q8WYA0	IFT81_HUMAN			12	1770	+			422					Q2YDY1|Q8NB51|Q9BSV2|Q9UNY8	Missense_Mutation	SNP	ENST00000242591.5	37	c.1264A>G	CCDS41831.1	.	.	.	.	.	.	.	.	.	.	A	17.70	3.453487	0.63290	.	.	ENSG00000122970	ENST00000552912;ENST00000242591	T;T	0.17528	2.27;2.27	6.07	6.07	0.98685	.	0.312951	0.42682	D	0.000666	T	0.16599	0.0399	L	0.50333	1.59	0.80722	D	1	B	0.19331	0.035	B	0.19946	0.027	T	0.07290	-1.0780	10	0.02654	T	1	-28.8168	16.6406	0.85098	1.0:0.0:0.0:0.0	.	422	Q8WYA0	IFT81_HUMAN	E	422	ENSP00000449718:K422E;ENSP00000242591:K422E	ENSP00000242591:K422E	K	+	1	0	IFT81	109102685	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.256000	0.72473	2.326000	0.78906	0.533000	0.62120	AAA		0.328	IFT81-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403529.1	NM_014055		8	26	0	0	0	1	0	8	26					G	110618302	A	G	110618302	3	3	337	1	0	0	0	0	1	0	0	0	7565	363	13	4	1418	4	IFT81	12	110618302	Missense_Mutation	SNP	A	TCGA-KK-A8I9-01A-11D-A364-08	38245452	110618302	23233593	41	17083											
ACADS	35	broad.mit.edu	37	chr12	121164962	121164962	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tttcccattgcagcccaggtGgataaggaacatctcttccc	9	11	8	13	0	1	0	0	0	1	0	4	2	3	2	3	3	3	1	3	3	2	4			TCGA-KK-A8I9-01A-11D-A364-08	TCGA-KK-A8I9-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bebc84b6-9179-420b-8207-858b999e8c0c	50b1e243-b45a-42a1-8692-b7ae5d51250f	g.chr12:121164962G>A	ENST00000242592.4	+	2	331	c.180G>A	c.(178-180)gtG>gtA	p.V60V	ACADS_ENST00000411593.2_Silent_p.V60V	NM_000017.2	NP_000008.1	P16219	ACADS_HUMAN	acyl-CoA dehydrogenase, C-2 to C-3 short chain	60					butyrate catabolic process (GO:0046359)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|fatty acid beta-oxidation using acyl-CoA dehydrogenase (GO:0033539)|protein homotetramerization (GO:0051289)|response to glucocorticoid (GO:0051384)|response to starvation (GO:0042594)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	acyl-CoA dehydrogenase activity (GO:0003995)|butyryl-CoA dehydrogenase activity (GO:0004085)|fatty-acyl-CoA binding (GO:0000062)|flavin adenine dinucleotide binding (GO:0050660)			central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(3)	14	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)	Lung NSC(355;0.163)			Flavin adenine dinucleotide(DB03147)	CAGCCCAGGTGGATAAGGAAC	0.562																																						ENST00000242592.4																			0				central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(3)	14						c.(178-180)gtG>gtA		acyl-CoA dehydrogenase, C-2 to C-3 short chain	NADH(DB00157)						196	179	185					12																	121164962		2203	4300	6503	SO:0001819	synonymous_variant	35					mitochondrial matrix	butyryl-CoA dehydrogenase activity	g.chr12:121164962G>A	M26393	CCDS9207.1	12q24.31	2012-07-13	2010-04-30		ENSG00000122971	ENSG00000122971	1.3.8.1		90	protein-coding gene	gene with protein product		606885	"acyl-Coenzyme A dehydrogenase, C-2 to C-3 short chain"			2565344	Standard	NM_000017		Approved	SCAD, ACAD3	uc001tza.4	P16219	OTTHUMG00000169203	ENST00000242592.4:c.180G>A	12.37:g.121164962G>A						ACADS_ENST00000411593.2_Silent_p.V60V	p.V60V	NM_000017.2	NP_000008.1	P16219	ACADS_HUMAN			2	331	+	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)	Lung NSC(355;0.163)	60					P78331	Silent	SNP	ENST00000242592.4	37	c.180G>A	CCDS9207.1																																																																																				0.562	ACADS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402861.1	NM_000017		20	121	0	0	0	1	0	20	121					A	121164962	G	A	121164962	2	1	337	1	0	0	0	0	0	0	0	1	114	1335	47	3		3	ACADS	12	121164962	Silent	SNP	G	TCGA-KK-A8I9-01A-11D-A364-08	10546660	121164962	12686933	42	17084											
KIAA1370	56204	broad.mit.edu	37	chr15	52902265	52902265	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggacttgggccactttttgcAtgtaacacactttcaggtgc	8	13	10	10	0	1	0	1	0	0	0	1	1	1	1	1	3	3	2	1	3	1	5			TCGA-KK-A8I9-01A-11D-A364-08	TCGA-KK-A8I9-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bebc84b6-9179-420b-8207-858b999e8c0c	50b1e243-b45a-42a1-8692-b7ae5d51250f	g.chr15:52902265A>C	ENST00000261844.7	-	6	998	c.846T>G	c.(844-846)caT>caG	p.H282Q	FAM214A_ENST00000546305.2_Missense_Mutation_p.H289Q	NM_019600.2	NP_062546.2	Q32MH5	F214A_HUMAN	family with sequence similarity 214, member A	282																	CACTTTTTGCATGTAACACAC	0.438																																						ENST00000261844.7																			0											c.(844-846)caT>caG		family with sequence similarity 214, member A							145	118	126					15																	52902265		1909	4122	6031	SO:0001583	missense	56204							g.chr15:52902265A>C	AB037791	CCDS45263.1, CCDS66773.1	15q21.2-q21.3	2011-12-01	2011-12-01	2011-12-01	ENSG00000047346	ENSG00000047346			25609	protein-coding gene	gene with protein product			"KIAA1370"	KIAA1370		10718198	Standard	XM_005254547		Approved	FLJ10980	uc002acg.4	Q32MH5		ENST00000261844.7:c.846T>G	15.37:g.52902265A>C	ENSP00000261844:p.His282Gln					FAM214A_ENST00000546305.2_Missense_Mutation_p.H289Q	p.H282Q	NM_019600.2	NP_062546.2	Q32MH5	K1370_HUMAN			6	998	-			282					A8KA52|B4DEP5|B4DF40|F5H8G0|Q32MH6|Q4G0R7|Q5XJ16|Q6PDA3|Q9NV24|Q9P2H7	Missense_Mutation	SNP	ENST00000261844.7	37	c.846T>G	CCDS45263.1	.	.	.	.	.	.	.	.	.	.	A	11.78	1.740101	0.30865	.	.	ENSG00000047346	ENST00000261844;ENST00000399202;ENST00000534964;ENST00000546305	T;T	0.31510	1.49;1.49	5.09	1.43	0.22495	.	0.278011	0.40469	N	0.001086	T	0.28400	0.0702	M	0.62723	1.935	0.28949	N	0.890506	P;P	0.43633	0.813;0.716	B;B	0.42555	0.391;0.219	T	0.18272	-1.0342	10	0.62326	D	0.03	.	5.026	0.14385	0.6648:0.0:0.208:0.1272	.	289;282	F5H8G0;Q32MH5	.;K1370_HUMAN	Q	282;282;281;289	ENSP00000261844:H282Q;ENSP00000443598:H289Q	ENSP00000261844:H282Q	H	-	3	2	KIAA1370	50689557	0.993000	0.37304	0.316000	0.25252	0.957000	0.61999	1.249000	0.32839	0.329000	0.23460	0.533000	0.62120	CAT		0.438	FAM214A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419914.1	NM_019600		10	36	0	0	0	1	0	10	36					C	52902265	A	C	52902265	3	2	337	1	0	0	0	0	1	0	0	0	8226	214	8	5	2416	5	KIAA1370	15	52902265	Missense_Mutation	SNP	A	TCGA-KK-A8I9-01A-11D-A364-08		52902265	49629127	43	17085											
ST8SIA2	8128	broad.mit.edu	37	chr15	92977487	92977487	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcccttccagagctgaagttGtaataaacggctcctcatca	11	11	7	12	1	2	2	2	1	0	1	5	2	5	2	3	1	2	4	3	1	4	4			TCGA-KK-A8I9-01A-11D-A364-08	TCGA-KK-A8I9-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bebc84b6-9179-420b-8207-858b999e8c0c	50b1e243-b45a-42a1-8692-b7ae5d51250f	g.chr15:92977487G>T	ENST00000268164.3	+	3	409	c.172G>T	c.(172-174)Gta>Tta	p.V58L	ST8SIA2_ENST00000539113.1_Missense_Mutation_p.V37L	NM_006011.3	NP_006002.1	Q92186	SIA8B_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 2	58					axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|cellular protein modification process (GO:0006464)|ganglioside biosynthetic process (GO:0001574)|N-glycan processing (GO:0006491)|nervous system development (GO:0007399)|oligosaccharide metabolic process (GO:0009311)|post-translational protein modification (GO:0043687)|protein glycosylation (GO:0006486)|protein N-linked glycosylation via asparagine (GO:0018279)|sialylation (GO:0097503)	early endosome (GO:0005769)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)|recycling endosome (GO:0055037)	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity (GO:0003828)|sialic acid binding (GO:0033691)			endometrium(2)|large_intestine(6)|lung(9)|skin(2)|urinary_tract(1)	20	Lung NSC(78;0.0893)|all_lung(78;0.125)		BRCA - Breast invasive adenocarcinoma(143;0.0355)|OV - Ovarian serous cystadenocarcinoma(32;0.203)			AGCTGAAGTTGTAATAAACGG	0.438																																						ENST00000268164.3																			0				endometrium(2)|large_intestine(6)|lung(9)|skin(2)|urinary_tract(1)	20						c.(172-174)Gta>Tta		ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 2							129	122	124					15																	92977487		2198	4298	6496	SO:0001583	missense	8128				axon guidance|N-glycan processing|oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity	g.chr15:92977487G>T	U33551	CCDS10372.1	15q26	2013-03-01	2003-01-14	2005-02-07	ENSG00000140557	ENSG00000140557		"Sialyltransferases"	10870	protein-coding gene	gene with protein product		602546	"sialyltransferase 8 (alpha-2, 8-sialytransferase) B"	SIAT8B		7559389	Standard	NM_006011		Approved	STX, ST8SIA-II, HsT19690	uc002bra.3	Q92186	OTTHUMG00000149843	ENST00000268164.3:c.172G>T	15.37:g.92977487G>T	ENSP00000268164:p.Val58Leu					ST8SIA2_ENST00000539113.1_Missense_Mutation_p.V37L	p.V58L	NM_006011.3	NP_006002.1	Q92186	SIA8B_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0355)|OV - Ovarian serous cystadenocarcinoma(32;0.203)		3	409	+	Lung NSC(78;0.0893)|all_lung(78;0.125)		58					Q4VAZ0|Q92470|Q92746	Missense_Mutation	SNP	ENST00000268164.3	37	c.172G>T	CCDS10372.1	.	.	.	.	.	.	.	.	.	.	G	12.98	2.101757	0.37048	.	.	ENSG00000140557	ENST00000268164;ENST00000539113	T;T	0.17213	2.29;2.54	5.65	5.65	0.86999	.	0.536026	0.19397	N	0.115271	T	0.09818	0.0241	N	0.08118	0	0.34432	D	0.698673	B;B	0.13145	0.007;0.003	B;B	0.11329	0.006;0.004	T	0.24368	-1.0162	10	0.22109	T	0.4	-2.1791	13.9537	0.64135	0.0722:0.0:0.9278:0.0	.	37;58	C6G488;Q92186	.;SIA8B_HUMAN	L	58;37	ENSP00000268164:V58L;ENSP00000437382:V37L	ENSP00000268164:V58L	V	+	1	0	ST8SIA2	90778491	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.908000	0.56355	2.656000	0.90262	0.655000	0.94253	GTA		0.438	ST8SIA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313526.1	NM_006011		24	88	1	0	3.28513e-13	1	3.43912e-13	24	88					T	92977487	G	T	92977487	3	4	337	1	0	0	0	0	1	0	0	0	15231	1377	48	5	182	5	ST8SIA2	15	92977487	Missense_Mutation	SNP	G	TCGA-KK-A8I9-01A-11D-A364-08	40075222	92977487	9553905	44	17086											
SRCAP	10847	broad.mit.edu	37	chr16	30750172	30750172	+	Silent	SNP	A	A	G																															ctgtcacctgtggagaaaagAaggcgaggacgaccccctaa																										TCGA-KK-A8I9-01A-11D-A364-08	TCGA-KK-A8I9-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bebc84b6-9179-420b-8207-858b999e8c0c	50b1e243-b45a-42a1-8692-b7ae5d51250f	g.chr16:30750172A>G	ENST00000262518.4	+	34	9196	c.8811A>G	c.(8809-8811)agA>agG	p.R2937R	RP11-2C24.4_ENST00000483578.1_lincRNA|SRCAP_ENST00000344771.4_Silent_p.R2779R|SRCAP_ENST00000395059.2_Silent_p.R2875R	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	2937	Pro-rich.				histone acetylation (GO:0016573)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			TGGAGAAAAGAAGGCGAGGAC	0.592																																						ENST00000262518.4																			0				NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136						c.(8809-8811)agA>agG		Snf2-related CREBBP activator protein							109	107	107					16																	30750172		2197	4300	6497	SO:0001819	synonymous_variant	10847				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity	g.chr16:30750172A>G	AB002307	CCDS10689.2	16p11.2	2009-08-06			ENSG00000080603	ENSG00000080603			16974	protein-coding gene	gene with protein product	"Swi2/Snf2-related ATPase homolog (S. cerevisiae)", "domino homolog 1 (Drosophila)"	611421				10347196, 9205841	Standard	NM_006662		Approved	KIAA0309, EAF1, SWR1, DOMO1	uc002dze.1	Q6ZRS2	OTTHUMG00000132393	ENST00000262518.4:c.8811A>G	16.37:g.30750172A>G						SRCAP_ENST00000344771.4_Silent_p.R2779R|SRCAP_ENST00000395059.2_Silent_p.R2875R	p.R2937R	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Colorectal(24;0.198)		34	9196	+			2937			Pro-rich.		B0JZA6|O15026|Q7Z744|Q9Y5L9	Silent	SNP	ENST00000262518.4	37	c.8811A>G	CCDS10689.2																																																																																				0.592	SRCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255523.1	NM_006662		9	46	0	0	0	1	0	9	46					G	30750172	A	G	30750172	2	3	337	1	0	0	0	0	0	0	0	1	15134	243	9	4		4	SRCAP	16	30750172	Silent	SNP	A	TCGA-KK-A8I9-01A-11D-A364-08		30750172	59604581	45	17087	85	2									
SRCAP	10847	broad.mit.edu	37	chr16	30750173	30750173	+	Silent	SNP	A	A	C																															tgtcacctgtggagaaaagaAggcgaggacgaccccctaaa																										TCGA-KK-A8I9-01A-11D-A364-08	TCGA-KK-A8I9-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bebc84b6-9179-420b-8207-858b999e8c0c	50b1e243-b45a-42a1-8692-b7ae5d51250f	g.chr16:30750173A>C	ENST00000262518.4	+	34	9197	c.8812A>C	c.(8812-8814)Agg>Cgg	p.R2938R	RP11-2C24.4_ENST00000483578.1_lincRNA|SRCAP_ENST00000344771.4_Silent_p.R2780R|SRCAP_ENST00000395059.2_Silent_p.R2876R	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	2938	Pro-rich.				histone acetylation (GO:0016573)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			GGAGAAAAGAAGGCGAGGACG	0.587																																						ENST00000262518.4																			0				NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136						c.(8812-8814)Agg>Cgg		Snf2-related CREBBP activator protein							111	108	109					16																	30750173		2197	4300	6497	SO:0001819	synonymous_variant	10847				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity	g.chr16:30750173A>C	AB002307	CCDS10689.2	16p11.2	2009-08-06			ENSG00000080603	ENSG00000080603			16974	protein-coding gene	gene with protein product	"Swi2/Snf2-related ATPase homolog (S. cerevisiae)", "domino homolog 1 (Drosophila)"	611421				10347196, 9205841	Standard	NM_006662		Approved	KIAA0309, EAF1, SWR1, DOMO1	uc002dze.1	Q6ZRS2	OTTHUMG00000132393	ENST00000262518.4:c.8812A>C	16.37:g.30750173A>C						SRCAP_ENST00000344771.4_Silent_p.R2780R|SRCAP_ENST00000395059.2_Silent_p.R2876R	p.R2938R	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Colorectal(24;0.198)		34	9197	+			2938			Pro-rich.		B0JZA6|O15026|Q7Z744|Q9Y5L9	Silent	SNP	ENST00000262518.4	37	c.8812A>C	CCDS10689.2																																																																																				0.587	SRCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255523.1	NM_006662		9	45	0	0	0	1	0	9	45					C	30750173	A	C	30750173	2	2	337	1	0	0	0	0	0	0	0	1	15134	63	3	5		5	SRCAP	16	30750173	Silent	SNP	A	TCGA-KK-A8I9-01A-11D-A364-08	1	30750173	59604580	46	17088	85	2									
CCL4	6351	broad.mit.edu	37	chr17	34431361	34431361	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gctgccttctgctctccagcGctctcagcaccaagtaagtc	7	10	8	16	1	3	0	1	0	3	0	6	0	3	0	3	0	4	5	3	0	2	2	rs1130755		TCGA-KK-A8I9-01A-11D-A364-08	TCGA-KK-A8I9-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bebc84b6-9179-420b-8207-858b999e8c0c	50b1e243-b45a-42a1-8692-b7ae5d51250f	g.chr17:34431361G>A	ENST00000250151.4	+	1	379	c.63G>A	c.(61-63)gcG>gcA	p.A21A	CCL4_ENST00000394495.1_Silent_p.A21A	NM_002984.2	NP_002975.1	P13236	CCL4_HUMAN	chemokine (C-C motif) ligand 4	21					cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell-cell signaling (GO:0007267)|cellular component movement (GO:0006928)|establishment or maintenance of cell polarity (GO:0007163)|immune response (GO:0006955)|inflammatory response (GO:0006954)|negative regulation by host of viral transcription (GO:0043922)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of natural killer cell chemotaxis (GO:2000503)|response to toxic substance (GO:0009636)|response to virus (GO:0009615)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	CCR1 chemokine receptor binding (GO:0031726)|CCR5 chemokine receptor binding (GO:0031730)|chemokine activity (GO:0008009)|cytokine activity (GO:0005125)|identical protein binding (GO:0042802)	p.A21A(1)		endometrium(1)|large_intestine(1)|lung(2)	4		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		GCTCTCCAGCGCTCTCAGCAC	0.502																																					Colon(139;824 1752 21188 21615 24765)	ENST00000250151.4																			1	Substitution - coding silent(1)	p.A21A(1)	large_intestine(1)	endometrium(1)|large_intestine(1)|lung(2)	4						c.(61-63)gcG>gcA		chemokine (C-C motif) ligand 4							455	415	428					17																	34431361		2203	4300	6503	SO:0001819	synonymous_variant	6351				cell adhesion|cell-cell signaling|cellular component movement|chemotaxis|establishment or maintenance of cell polarity|immune response|inflammatory response|response to virus|viral genome replication	extracellular space	chemokine activity|receptor signaling protein tyrosine kinase activity	g.chr17:34431361G>A	M23502	CCDS11308.1	17q21-q23	2014-05-06	2002-08-22	2002-08-23	ENSG00000129277	ENSG00000275302		"Chemokine ligands", "Endogenous ligands"	10630	protein-coding gene	gene with protein product		182284	"small inducible cytokine A4 (homologous to mouse Mip-1b)"	LAG1, SCYA4		1972563	Standard	NM_002984		Approved	MIP-1-beta, Act-2, AT744.1	uc002hkw.1	P13236	OTTHUMG00000188414	ENST00000250151.4:c.63G>A	17.37:g.34431361G>A						CCL4_ENST00000394495.1_Silent_p.A21A	p.A21A	NM_002984.2	NP_002975.1	P13236	CCL4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)	1	379	+		Ovarian(249;0.17)	21					P22617|Q13704|Q3SXL8|Q6FGI8	Silent	SNP	ENST00000250151.4	37	c.63G>A	CCDS11308.1																																																																																				0.502	CCL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256592.2	NM_002984		11	375	0	0	0	1	0	11	375					A	34431361	G	A	34431361	2	1	337	1	0	0	0	0	0	0	0	1	2902	1074	38	1		1	CCL4	17	34431361	Silent	SNP	G	TCGA-KK-A8I9-01A-11D-A364-08		34431361	46763849	47	17089											
SPOP	8405	broad.mit.edu	37	chr17	47696431	47696431	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggatgaatttcttgaatcccCagtctttgccttgcacaaac	10	13	7	11	0	2	2	0	2	2	0	3	3	3	3	3	1	3	1	3	1	3	4			TCGA-KK-A8I9-01A-11D-A364-08	TCGA-KK-A8I9-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bebc84b6-9179-420b-8207-858b999e8c0c	50b1e243-b45a-42a1-8692-b7ae5d51250f	g.chr17:47696431C>A	ENST00000393328.2	-	6	757	c.392G>T	c.(391-393)tGg>tTg	p.W131L	SPOP_ENST00000393331.3_Missense_Mutation_p.W131L|SPOP_ENST00000513080.1_5'Flank|SPOP_ENST00000503676.1_Missense_Mutation_p.W131L|SPOP_ENST00000347630.2_Missense_Mutation_p.W131L|SPOP_ENST00000504102.1_Missense_Mutation_p.W131L	NM_003563.3	NP_003554.1	O43791	SPOP_HUMAN	speckle-type POZ protein	131	Important for binding substrate proteins.|MATH. {ECO:0000255|PROSITE- ProRule:PRU00129}.|Required for nuclear localization.				glucose homeostasis (GO:0042593)|positive regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902237)|positive regulation of type B pancreatic cell apoptotic process (GO:2000676)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	Cul3-RING ubiquitin ligase complex (GO:0031463)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	ubiquitin protein ligase binding (GO:0031625)			endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						CTTGAATCCCCAGTCTTTGCC	0.453										Prostate(2;0.17)																												ENST00000393331.3																			0				endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						c.(391-393)tGg>tTg		speckle-type POZ protein							121	123	123					17																	47696431		2203	4300	6503	SO:0001583	missense	8405				mRNA processing	nucleus	protein binding	g.chr17:47696431C>A	AJ000644	CCDS11551.1	17q21.33	2013-01-09			ENSG00000121067	ENSG00000121067		"BTB/POZ domain containing"	11254	protein-coding gene	gene with protein product		602650				9414087	Standard	NM_001007227		Approved	TEF2, BTBD32	uc002ipg.3	O43791	OTTHUMG00000161496	ENST00000393328.2:c.392G>T	17.37:g.47696431C>A	ENSP00000377001:p.Trp131Leu	Prostate(2;0.17)				SPOP_ENST00000393328.2_Missense_Mutation_p.W131L|SPOP_ENST00000503676.1_Missense_Mutation_p.W131L|SPOP_ENST00000347630.2_Missense_Mutation_p.W131L|SPOP_ENST00000504102.1_Missense_Mutation_p.W131L	p.W131L	NM_001007226.1|NM_001007227.1	NP_001007227.1|NP_001007228.1	O43791	SPOP_HUMAN			7	862	-			131			MATH.|Required for nuclear localization.		B2R6S3|D3DTW7|Q53HJ1	Missense_Mutation	SNP	ENST00000393328.2	37	c.392G>T	CCDS11551.1	.	.	.	.	.	.	.	.	.	.	C	28.4	4.915396	0.92178	.	.	ENSG00000121067	ENST00000393328;ENST00000393331;ENST00000347630;ENST00000504102;ENST00000503536;ENST00000503676;ENST00000513872;ENST00000509079;ENST00000505581;ENST00000507970;ENST00000514121	T;T;T;T;T;T;T;T;T	0.69040	-0.37;-0.37;-0.37;-0.37;-0.37;-0.37;-0.37;-0.37;-0.37	5.41	5.41	0.78517	TRAF-type (1);TRAF-like (1);MATH (3);	0.000000	0.85682	D	0.000000	T	0.75576	0.3868	M	0.67700	2.07	0.80722	D	1	P	0.47841	0.901	P	0.51516	0.672	T	0.76337	-0.2996	10	0.52906	T	0.07	0.1404	18.9712	0.92715	0.0:1.0:0.0:0.0	.	131	O43791	SPOP_HUMAN	L	131;131;131;131;15;131;84;131;131;131;131	ENSP00000377001:W131L;ENSP00000377004:W131L;ENSP00000240327:W131L;ENSP00000425905:W131L;ENSP00000420908:W131L;ENSP00000426986:W131L;ENSP00000420960:W131L;ENSP00000426262:W131L;ENSP00000424119:W131L	ENSP00000240327:W131L	W	-	2	0	SPOP	45051430	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.583000	0.82559	2.802000	0.96397	0.563000	0.77884	TGG		0.453	SPOP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365154.2	NM_003563		35	101	1	0	4.4194e-11	1	4.55539e-11	35	101					A	47696431	C	A	47696431	3	1	337	1	0	0	0	0	1	0	0	0	15083	595	21	5	756	5	SPOP	17	47696431	Missense_Mutation	SNP	C	TCGA-KK-A8I9-01A-11D-A364-08	13265070	47696431	33498779	48	17090											
SFRS1	6426	broad.mit.edu	37	chr17	56084419	56084419	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcaatgtccttggttcggAtgtctggaggtaagttaccc	7	13	11	10	1	2	0	1	0	1	0	4	2	3	2	3	4	1	3	3	4	3	4			TCGA-KK-A8I9-01A-11D-A364-08	TCGA-KK-A8I9-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bebc84b6-9179-420b-8207-858b999e8c0c	50b1e243-b45a-42a1-8692-b7ae5d51250f	g.chr17:56084419A>T	ENST00000258962.4	-	1	288	c.80T>A	c.(79-81)aTc>aAc	p.I27N	SRSF1_ENST00000585096.1_Missense_Mutation_p.I27N|RP11-159D12.5_ENST00000578794.1_5'Flank|SRSF1_ENST00000582730.2_Missense_Mutation_p.I27N|SRSF1_ENST00000584773.1_Missense_Mutation_p.I27N|SRSF1_ENST00000581497.1_5'Flank	NM_006924.4	NP_008855.1	Q07955	SRSF1_HUMAN	serine/arginine-rich splicing factor 1	27	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				cardiac muscle contraction (GO:0060048)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|mRNA 3'-end processing (GO:0031124)|mRNA 5'-splice site recognition (GO:0000395)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|mRNA splice site selection (GO:0006376)|mRNA splicing, via spliceosome (GO:0000398)|regulation of mRNA splicing, via spliceosome (GO:0048024)|regulation of mRNA stability (GO:0043488)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translation (GO:0006417)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						CTTGGTTCGGATGTCTGGAGG	0.587																																						ENST00000582730.2																			0				breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						c.(79-81)aTc>aAc		serine/arginine-rich splicing factor 1							226	169	188					17																	56084419		2203	4300	6503	SO:0001583	missense	6426				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA 5'-splice site recognition|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytoplasm|nuclear speck	nucleotide binding|RNA binding	g.chr17:56084419A>T		CCDS11600.1, CCDS58580.1	17q22	2013-02-12	2010-06-22	2010-06-22	ENSG00000136450	ENSG00000136450		"Serine/arginine-rich splicing factors", "RNA binding motif (RRM) containing"	10780	protein-coding gene	gene with protein product	"splicing factor 2", "pre-mRNA-splicing factor SF2, P33 subunit", "alternate splicing factor", "SR splicing factor 1"	600812	"splicing factor, arginine/serine-rich 1"	SFRS1		8530103, 20516191	Standard	NM_006924		Approved	ASF, SF2, SRp30a, SF2p33, MGC5228	uc002ivi.3	Q07955		ENST00000258962.4:c.80T>A	17.37:g.56084419A>T	ENSP00000258962:p.Ile27Asn					SRSF1_ENST00000258962.4_Missense_Mutation_p.I27N|SRSF1_ENST00000585096.1_Missense_Mutation_p.I27N|SRSF1_ENST00000584773.1_Missense_Mutation_p.I27N	p.I27N	NM_001078166.1	NP_001071634.1	Q07955	SRSF1_HUMAN			1	203	-			27			RRM 1.		B2R6Z7|D3DTZ3|Q13809	Missense_Mutation	SNP	ENST00000258962.4	37	c.80T>A	CCDS11600.1	.	.	.	.	.	.	.	.	.	.	A	15.55	2.867333	0.51588	.	.	ENSG00000136450	ENST00000258962	T	0.18174	2.23	6.11	6.11	0.99139	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	T	0.49321	0.1550	M	0.88775	2.98	0.80722	D	1	D;D	0.67145	0.996;0.996	D;D	0.72982	0.979;0.969	T	0.57648	-0.7775	10	0.87932	D	0	.	15.6847	0.77400	1.0:0.0:0.0:0.0	.	59;27	Q59FA2;Q07955	.;SRSF1_HUMAN	N	27	ENSP00000258962:I27N	ENSP00000258962:I27N	I	-	2	0	SRSF1	53439418	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.353000	0.90077	2.343000	0.79666	0.533000	0.62120	ATC		0.587	SRSF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443335.1	NM_006924		5	54	0	0	0	1	0	5	54					T	56084419	A	T	56084419	3	4	337	1	0	0	0	0	1	0	0	0	14165	333	12	5	736	5	SFRS1	17	56084419	Missense_Mutation	SNP	A	TCGA-KK-A8I9-01A-11D-A364-08	8387988	56084419	25110791	49	17091											
C18orf8	29919	broad.mit.edu	37	chr18	21083629	21083629	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgtgcgagcggccggtgcAgttcgagaaggcgaaccctg	7	6	17	11	5	0	1	0	0	0	1	1	4	0	1	2	3	4	3	2	3	2	1			TCGA-KK-A8I9-01A-11D-A364-08	TCGA-KK-A8I9-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bebc84b6-9179-420b-8207-858b999e8c0c	50b1e243-b45a-42a1-8692-b7ae5d51250f	g.chr18:21083629A>C	ENST00000269221.3	+	1	157	c.47A>C	c.(46-48)cAg>cCg	p.Q16P	C18orf8_ENST00000590868.1_Missense_Mutation_p.Q16P	NM_013326.3	NP_037458.3	Q96DM3	MIC1_HUMAN	chromosome 18 open reading frame 8	16						lysosomal membrane (GO:0005765)				endometrium(9)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	21	all_cancers(21;0.000122)|all_epithelial(16;8.08e-07)|Lung NSC(20;0.00206)|all_lung(20;0.00659)|Colorectal(14;0.0202)|Ovarian(20;0.127)					CGGCCGGTGCAGTTCGAGAAG	0.731																																						ENST00000269221.3																			0				endometrium(9)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	21						c.(46-48)cAg>cCg		chromosome 18 open reading frame 8							44	46	46					18																	21083629		2203	4300	6503	SO:0001583	missense	29919							g.chr18:21083629A>C	AK057192	CCDS32803.1, CCDS74199.1	18q11.2	2013-12-13			ENSG00000141452	ENSG00000141452			24326	protein-coding gene	gene with protein product	"colon cancer associated protein Mic1", "macrophage inhibitory cytokine 1"					12477932	Standard	NM_013326		Approved	MIC1, MIC-1, HsT2591	uc021uie.2	Q96DM3		ENST00000269221.3:c.47A>C	18.37:g.21083629A>C	ENSP00000269221:p.Gln16Pro					C18orf8_ENST00000590868.1_Missense_Mutation_p.Q16P	p.Q16P	NM_013326.3	NP_037458.3	Q96DM3	MIC1_HUMAN			1	157	+	all_cancers(21;0.000122)|all_epithelial(16;8.08e-07)|Lung NSC(20;0.00206)|all_lung(20;0.00659)|Colorectal(14;0.0202)|Ovarian(20;0.127)		16					Q9BU17|Q9Y5M0	Missense_Mutation	SNP	ENST00000269221.3	37	c.47A>C	CCDS32803.1	.	.	.	.	.	.	.	.	.	.	A	17.60	3.429309	0.62844	.	.	ENSG00000141452	ENST00000269221;ENST00000540942	.	.	.	4.54	3.29	0.37713	.	0.438446	0.25361	N	0.031233	T	0.43700	0.1259	L	0.36672	1.1	0.43080	D	0.994735	B;B	0.18310	0.016;0.027	B;B	0.22386	0.021;0.039	T	0.43669	-0.9377	9	0.49607	T	0.09	-13.3202	6.3813	0.21536	0.6804:0.1629:0.0:0.1567	.	16;16	Q96DM3;F5H2W0	MIC1_HUMAN;.	P	16	.	ENSP00000269221:Q16P	Q	+	2	0	C18orf8	19337627	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	4.713000	0.61895	1.675000	0.50919	0.460000	0.39030	CAG		0.731	C18orf8-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445386.1	NM_013326		4	46	0	0	0	1	0	4	46					C	21083629	A	C	21083629	3	2	337	1	0	0	0	0	1	0	0	0	1907	188	7	5	49	5	C18orf8	18	21083629	Missense_Mutation	SNP	A	TCGA-KK-A8I9-01A-11D-A364-08		21083629	56993619	50	17092											
EMR3	84658	broad.mit.edu	37	chr19	14772884	14772884	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcgacattgtaacacacagcGttaaatccacaatatacact	16	10	4	11	2	0	0	0	0	0	0	2	1	1	0	1	0	3	2	1	0	6	5			TCGA-KK-A8I9-01A-11D-A364-08	TCGA-KK-A8I9-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bebc84b6-9179-420b-8207-858b999e8c0c	50b1e243-b45a-42a1-8692-b7ae5d51250f	g.chr19:14772884G>A	ENST00000253673.5	-	4	346	c.246C>T	c.(244-246)aaC>aaT	p.N82N	EMR3_ENST00000599900.1_De_novo_Start_OutOfFrame|EMR3_ENST00000344373.4_Intron|EMR3_ENST00000443157.2_Intron	NM_032571.3	NP_115960.2	Q9BY15	EMR3_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 3	82	EGF-like 2; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|autonomic_ganglia(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(12)|lung(14)|ovary(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	50						AACACACAGCGTTAAATCCAC	0.378																																						ENST00000599900.1																			0				NS(1)|autonomic_ganglia(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(12)|lung(14)|ovary(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	50								egf-like module containing, mucin-like, hormone receptor-like 3							178	154	162					19																	14772884		2203	4300	6503	SO:0001819	synonymous_variant	84658				neuropeptide signaling pathway	extracellular space|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr19:14772884G>A	AF239764	CCDS12315.1, CCDS74296.1, CCDS74297.1	19p13.1	2014-08-08				ENSG00000131355		"-", "GPCR / Class B : Orphans"	23647	protein-coding gene	gene with protein product		606101				11279179, 12975309	Standard	XM_005260118		Approved		uc002mzi.4	Q9BY15		ENST00000253673.5:c.246C>T	19.37:g.14772884G>A						EMR3_ENST00000253673.5_Silent_p.N82N|EMR3_ENST00000344373.4_Intron|EMR3_ENST00000443157.2_Intron				Q9BY15	EMR3_HUMAN			0	339	-									Translation_Start_Site	SNP	ENST00000253673.5	37		CCDS12315.1																																																																																				0.378	EMR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466488.1	NM_032571		16	52	0	0	0	1	0	16	52					A	14772884	G	A	14772884	2	1	337	1	0	0	0	0	0	0	0	1	5106	1136	40	1		1	EMR3	19	14772884	Silent	SNP	G	TCGA-KK-A8I9-01A-11D-A364-08		14772884	44356099	51	17093											
ZNF606	80095	broad.mit.edu	37	chr19	58499976	58499976	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gccttacccacagagagcagGtgaccataggtctccagcat	11	7	10	13	0	1	2	0	1	1	1	2	3	1	2	4	2	3	2	4	2	2	2			TCGA-KK-A8I9-01A-11D-A364-08	TCGA-KK-A8I9-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bebc84b6-9179-420b-8207-858b999e8c0c	50b1e243-b45a-42a1-8692-b7ae5d51250f	g.chr19:58499976G>A	ENST00000341164.4	-	5	911	c.291C>T	c.(289-291)caC>caT	p.H97H	ZNF606_ENST00000552579.1_5'Flank|ZNF606_ENST00000536132.1_Silent_p.H7H	NM_025027.3	NP_079303.2	Q8WXB4	ZN606_HUMAN	zinc finger protein 606	97	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)		CAGAGAGCAGGTGACCATAGG	0.557																																						ENST00000341164.4																			0				NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						c.(289-291)caC>caT		zinc finger protein 606							203	181	188					19																	58499976		2203	4300	6503	SO:0001819	synonymous_variant	80095				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58499976G>A	AB058755	CCDS12968.1	19q13.43	2013-01-08			ENSG00000166704	ENSG00000166704		"Zinc fingers, C2H2-type", "-"	25879	protein-coding gene	gene with protein product		613905		ZNF328		11347906	Standard	XM_005259276		Approved	FLJ14260, KIAA1852	uc002qqw.3	Q8WXB4	OTTHUMG00000169804	ENST00000341164.4:c.291C>T	19.37:g.58499976G>A						ZNF606_ENST00000536132.1_Silent_p.H7H	p.H97H	NM_025027.3	NP_079303.2	Q8WXB4	ZN606_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)	5	911	-		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)	97			KRAB.		A8KAN2|Q8NE04|Q96JH5	Silent	SNP	ENST00000341164.4	37	c.291C>T	CCDS12968.1																																																																																				0.557	ZNF606-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405961.1	NM_025027		36	127	0	0	0	1	0	36	127					A	58499976	G	A	58499976	2	1	337	1	0	0	0	0	0	0	0	1	18029	1252	44	3		3	ZNF606	19	58499976	Silent	SNP	G	TCGA-KK-A8I9-01A-11D-A364-08	43727092	58499976	629007	52	17094											
DNMT3B	1789	broad.mit.edu	37	chr20	31388677	31388677	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	catttgacttggtgattggcGgaagcccatgcaacgatctc	9	11	11	10	2	1	2	0	2	1	0	2	4	1	3	1	3	3	1	1	3	2	3			TCGA-KK-A8I9-01A-11D-A364-08	TCGA-KK-A8I9-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bebc84b6-9179-420b-8207-858b999e8c0c	50b1e243-b45a-42a1-8692-b7ae5d51250f	g.chr20:31388677G>A	ENST00000328111.2	+	18	2263	c.1942G>A	c.(1942-1944)Gga>Aga	p.G648R	DNMT3B_ENST00000353855.2_Missense_Mutation_p.G628R|DNMT3B_ENST00000375623.4_3'UTR|DNMT3B_ENST00000344505.4_Missense_Mutation_p.G628R|DNMT3B_ENST00000456297.2_Missense_Mutation_p.G552R|DNMT3B_ENST00000201963.3_Missense_Mutation_p.G640R|DNMT3B_ENST00000348286.2_Missense_Mutation_p.G628R|DNMT3B_ENST00000443239.3_Missense_Mutation_p.G586R	NM_006892.3	NP_008823.1	Q9UBC3	DNM3B_HUMAN	DNA (cytosine-5-)-methyltransferase 3 beta	648	SAM-dependent MTase C5-type. {ECO:0000255|PROSITE-ProRule:PRU01016}.				C-5 methylation of cytosine (GO:0090116)|cellular response to amino acid stimulus (GO:0071230)|DNA methylation (GO:0006306)|DNA methylation involved in embryo development (GO:0043045)|DNA methylation on cytosine within a CG sequence (GO:0010424)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of gene expression (GO:0010628)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of neuron differentiation (GO:0045666)|protein complex localization (GO:0031503)|regulation of gene expression by genetic imprinting (GO:0006349)|response to drug (GO:0042493)|response to ionizing radiation (GO:0010212)|S-adenosylhomocysteine metabolic process (GO:0046498)|S-adenosylmethioninamine metabolic process (GO:0046499)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear heterochromatin (GO:0005720)|nucleus (GO:0005634)	DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA (cytosine-5-)-methyltransferase activity, acting on CpG substrates (GO:0051718)|DNA-methyltransferase activity (GO:0009008)|metal ion binding (GO:0046872)|transcription corepressor activity (GO:0003714)|unmethylated CpG binding (GO:0045322)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(16)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GGTGATTGGCGGAAGCCCATG	0.522																																						ENST00000328111.2																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(16)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						c.(1942-1944)Gga>Aga		DNA (cytosine-5-)-methyltransferase 3 beta							185	187	186					20																	31388677		2203	4300	6503	SO:0001583	missense	1789				negative regulation of histone H3-K9 methylation|positive regulation of gene expression|positive regulation of histone H3-K4 methylation		metal ion binding|protein binding|transcription corepressor activity	g.chr20:31388677G>A		CCDS13204.1, CCDS13205.1, CCDS13206.1, CCDS13207.1, CCDS56183.1, CCDS56184.1	20q11.2	2014-09-17			ENSG00000088305	ENSG00000088305			2979	protein-coding gene	gene with protein product		602900				9662389, 10433969	Standard	NM_006892		Approved		uc002wyc.3	Q9UBC3	OTTHUMG00000032226	ENST00000328111.2:c.1942G>A	20.37:g.31388677G>A	ENSP00000328547:p.Gly648Arg					DNMT3B_ENST00000353855.2_Missense_Mutation_p.G628R|DNMT3B_ENST00000375623.4_3'UTR|DNMT3B_ENST00000443239.3_Missense_Mutation_p.G586R|DNMT3B_ENST00000201963.3_Missense_Mutation_p.G640R|DNMT3B_ENST00000456297.2_Missense_Mutation_p.G552R|DNMT3B_ENST00000348286.2_Missense_Mutation_p.G628R|DNMT3B_ENST00000344505.4_Missense_Mutation_p.G628R	p.G648R	NM_006892.3	NP_008823.1	Q9UBC3	DNM3B_HUMAN			18	2263	+			648					A2A2E2|B4DSM8|B4DSU1|E1P5M6|E1P5M7|E7EN63|E9PBF2|Q9UBD4|Q9UJQ5|Q9UKA6|Q9UNE5|Q9Y5R9|Q9Y5S0	Missense_Mutation	SNP	ENST00000328111.2	37	c.1942G>A	CCDS13205.1	.	.	.	.	.	.	.	.	.	.	G	36	5.691842	0.96793	.	.	ENSG00000088305	ENST00000328111;ENST00000353855;ENST00000348286;ENST00000443239;ENST00000456297;ENST00000344505;ENST00000201963	D;D;D;D;D;D;D	0.93547	-3.24;-3.24;-3.24;-3.24;-3.24;-3.24;-3.24	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	D	0.98172	0.9396	H	0.97635	4.045	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;0.997;1.0;1.0	D;D;D;D;D;D;D	0.97110	0.998;0.996;0.988;1.0;0.997;1.0;1.0	D	0.98850	1.0758	10	0.87932	D	0	-22.4387	19.2231	0.93806	0.0:0.0:1.0:0.0	.	552;586;347;640;628;628;648	E9PBF2;E7EN63;B3KM53;Q9UBC3-6;Q9UBC3-3;Q9UBC3-2;Q9UBC3	.;.;.;.;.;.;DNM3B_HUMAN	R	648;628;628;586;552;628;640	ENSP00000328547:G648R;ENSP00000313397:G628R;ENSP00000337764:G628R;ENSP00000403169:G586R;ENSP00000412305:G552R;ENSP00000345105:G628R;ENSP00000201963:G640R	ENSP00000201963:G640R	G	+	1	0	DNMT3B	30852338	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.779000	0.99018	2.885000	0.99019	0.655000	0.94253	GGA		0.522	DNMT3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078643.2	NM_006892		7	184	0	0	0	1	0	7	184					A	31388677	G	A	31388677	3	1	337	1	0	0	0	0	1	0	0	0	4677	1117	39	2	2048	2	DNMT3B	20	31388677	Missense_Mutation	SNP	G	TCGA-KK-A8I9-01A-11D-A364-08		31388677	31636843	53	17095											
ZFP64	55734	broad.mit.edu	37	chr20	50769705	50769705	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcattccgagcacttctcAggatgctccgactggtgcac	7	10	10	14	2	1	0	1	0	1	0	4	3	3	1	2	2	4	4	2	2	0	2			TCGA-KK-A8I9-01A-11D-A364-08	TCGA-KK-A8I9-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bebc84b6-9179-420b-8207-858b999e8c0c	50b1e243-b45a-42a1-8692-b7ae5d51250f	g.chr20:50769705A>T	ENST00000216923.4	-	6	1375	c.1026T>A	c.(1024-1026)ccT>ccA	p.P342P	ZFP64_ENST00000477786.1_Intron|ZFP64_ENST00000346617.4_Silent_p.P288P|ZFP64_ENST00000371515.4_Silent_p.P340P|ZFP64_ENST00000371518.2_Intron|ZFP64_ENST00000361387.2_Intron	NM_018197.2|NM_199426.1	NP_060667.2|NP_955458.1	Q9NPA5	ZF64A_HUMAN	ZFP64 zinc finger protein	342					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(5)|large_intestine(8)|lung(11)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	33						AGCACTTCTCAGGATGCTCCG	0.592																																						ENST00000216923.4																			0				breast(2)|endometrium(5)|large_intestine(8)|lung(11)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	33						c.(1024-1026)ccT>ccA		ZFP64 zinc finger protein							121	112	115					20																	50769705		2203	4300	6503	SO:0001819	synonymous_variant	55734				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr20:50769705A>T	AK001596	CCDS13439.1, CCDS13440.1, CCDS13441.1, CCDS13442.1	20q13.11-q13.13	2013-01-08	2012-11-27		ENSG00000020256	ENSG00000020256		"Zinc fingers, C2H2-type"	15940	protein-coding gene	gene with protein product			"zinc finger protein 338", "zinc finger protein 64 homolog (mouse)", "zinc finger protein 64"	ZNF338		9034307	Standard	NM_199427		Approved	FLJ10734, dJ831D17.1, FLJ12628, dJ548G19.1	uc002xwl.3	Q9NPA5	OTTHUMG00000032756	ENST00000216923.4:c.1026T>A	20.37:g.50769705A>T						ZFP64_ENST00000477786.1_Intron|ZFP64_ENST00000371518.2_Intron|ZFP64_ENST00000346617.4_Silent_p.P288P|ZFP64_ENST00000371515.4_Silent_p.P340P|ZFP64_ENST00000361387.2_Intron	p.P342P	NM_018197.2|NM_199426.1	NP_060667.2|NP_955458.1	Q9NPA5	ZF64A_HUMAN			6	1375	-			342					Q9NTS7|Q9NVH4	Silent	SNP	ENST00000216923.4	37	c.1026T>A	CCDS13440.1																																																																																				0.592	ZFP64-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000079744.1	NM_018197		20	75	0	0	0	1	0	20	75					T	50769705	A	T	50769705	2	4	337	1	0	0	0	0	0	0	0	1	17649	175	7	5		5	ZFP64	20	50769705	Silent	SNP	A	TCGA-KK-A8I9-01A-11D-A364-08	19381028	50769705	12255815	54	17096											
CTCFL	140690	broad.mit.edu	37	chr20	56099166	56099166	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttctctctgcacactccgtcTttttcctcctccttcaggcc	3	16	4	18	1	4	0	1	0	3	0	9	0	8	0	5	1	1	1	5	1	0	4			TCGA-KK-A8I9-01A-11D-A364-08	TCGA-KK-A8I9-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bebc84b6-9179-420b-8207-858b999e8c0c	50b1e243-b45a-42a1-8692-b7ae5d51250f	g.chr20:56099166T>C	ENST00000608263.1	-	1	757	c.96A>G	c.(94-96)aaA>aaG	p.K32K	CTCFL_ENST00000502686.2_Intron|CTCFL_ENST00000422869.2_Silent_p.K32K|CTCFL_ENST00000433949.3_Intron|CTCFL_ENST00000243914.3_Silent_p.K32K|CTCFL_ENST00000481655.2_Silent_p.K32K|CTCFL_ENST00000608858.1_Intron|CTCFL_ENST00000608903.1_Intron|CTCFL_ENST00000609232.1_Silent_p.K32K|CTCFL_ENST00000608158.1_Silent_p.K32K|CTCFL_ENST00000423479.3_Silent_p.K32K|CTCFL_ENST00000432255.2_Silent_p.K32K|CTCFL_ENST00000608425.1_Silent_p.K32K|CTCFL_ENST00000539382.1_Intron|CTCFL_ENST00000371196.2_Silent_p.K32K|CTCFL_ENST00000608440.1_Silent_p.K32K|CTCFL_ENST00000429804.3_Silent_p.K32K	NM_001269041.1	NP_001255970.1	Q8NI51	CTCFL_HUMAN	CCCTC-binding factor (zinc finger protein)-like	32					cell cycle (GO:0007049)|DNA methylation involved in gamete generation (GO:0043046)|histone methylation (GO:0016571)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of histone H3-K4 methylation (GO:0051569)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone binding (GO:0042393)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(28)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58	Lung NSC(12;0.00132)|all_lung(29;0.00433)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;3.95e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.09e-07)			ACACTCCGTCTTTTTCCTCCT	0.532																																						ENST00000426658.2																			0				NS(1)|breast(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(28)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						c.(94-96)aaA>aaG		CCCTC-binding factor (zinc finger protein)-like							233	257	249					20																	56099166		2203	4300	6503	SO:0001819	synonymous_variant	140690				cell cycle|DNA methylation involved in gamete generation|histone methylation|positive regulation of transcription, DNA-dependent|regulation of gene expression by genetic imprinting|regulation of histone H3-K4 methylation|transcription, DNA-dependent	cytoplasm|nucleus	histone binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding	g.chr20:56099166T>C		CCDS13459.1, CCDS58776.1, CCDS58777.1, CCDS58778.1, CCDS58779.1, CCDS58780.1, CCDS58781.1, CCDS58782.1, CCDS68161.1, CCDS68162.1, CCDS68163.1, CCDS68164.1	20q13.31	2013-01-08			ENSG00000124092	ENSG00000124092		"Zinc fingers, C2H2-type"	16234	protein-coding gene	gene with protein product	"cancer/testis antigen 27"	607022					Standard	NM_001269040		Approved	dJ579F20.2, BORIS, CT27	uc010giw.1	Q8NI51	OTTHUMG00000032829	ENST00000608263.1:c.96A>G	20.37:g.56099166T>C						CTCFL_ENST00000422869.2_Silent_p.K32K|CTCFL_ENST00000371196.2_Silent_p.K32K|CTCFL_ENST00000422109.2_Silent_p.K32K|CTCFL_ENST00000243914.3_Silent_p.K32K|CTCFL_ENST00000433949.2_Silent_p.K32K|CTCFL_ENST00000502686.2_Intron|CTCFL_ENST00000539382.1_Intron|CTCFL_ENST00000432255.2_Silent_p.K32K|CTCFL_ENST00000429804.2_Silent_p.K32K|CTCFL_ENST00000423479.2_Silent_p.K32K	p.K32K			Q8NI51	CTCFL_HUMAN	BRCA - Breast invasive adenocarcinoma(13;3.95e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.09e-07)		1	757	-	Lung NSC(12;0.00132)|all_lung(29;0.00433)|Melanoma(10;0.242)		32					A0S6W1|A1L4C6|A6XGL8|A6XGM2|A6XGM3|A6XGM8|A6XGN0|A6XGN1|A6XGN2|A6XGN3|A6XGN4|E7EQ27|E7EUE3|E9PBA9|Q5JUG4|Q9BZ30|Q9NQJ3	Silent	SNP	ENST00000608263.1	37	c.96A>G	CCDS13459.1																																																																																				0.532	CTCFL-019	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000472040.1	NM_080618		4	247	0	0	0	1	0	4	247					C	56099166	T	C	56099166	2	2	337	1	0	0	0	0	0	0	0	1	4001	1606	56	4		4	CTCFL	20	56099166	Silent	SNP	T	TCGA-KK-A8I9-01A-11D-A364-08	5329461	56099166	6926354	55	17097											
PDE9A	5152	broad.mit.edu	37	chr21	44180975	44180975	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tatcctgatcctaatgacagCggccatctgccacgatctgg	9	10	9	13	2	2	2	0	2	2	0	4	3	4	2	4	2	2	0	4	2	2	2	rs141486724		TCGA-KK-A8I9-01A-11D-A364-08	TCGA-KK-A8I9-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bebc84b6-9179-420b-8207-858b999e8c0c	50b1e243-b45a-42a1-8692-b7ae5d51250f	g.chr21:44180975C>T	ENST00000291539.6	+	13	1103	c.1043C>T	c.(1042-1044)gCg>gTg	p.A348V	PDE9A_ENST00000398234.3_Missense_Mutation_p.A247V|PDE9A_ENST00000398225.3_Missense_Mutation_p.A307V|PDE9A_ENST00000398236.3_Missense_Mutation_p.A262V|PDE9A_ENST00000470987.1_3'UTR|PDE9A_ENST00000398232.3_Missense_Mutation_p.A281V|PDE9A_ENST00000335512.4_Missense_Mutation_p.A288V|PDE9A_ENST00000398227.3_Missense_Mutation_p.A188V|PDE9A_ENST00000539837.1_Missense_Mutation_p.A220V|PDE9A_ENST00000328862.6_Missense_Mutation_p.A322V|PDE9A_ENST00000398224.3_Missense_Mutation_p.A221V|PDE9A_ENST00000335440.6_Missense_Mutation_p.A246V|PDE9A_ENST00000398229.3_Missense_Mutation_p.A214V|PDE9A_ENST00000380328.2_Missense_Mutation_p.A295V|PDE9A_ENST00000349112.3_Missense_Mutation_p.A220V	NM_002606.2	NP_002597.1	O76083	PDE9A_HUMAN	phosphodiesterase 9A	348	Catalytic. {ECO:0000250}.				blood coagulation (GO:0007596)|cGMP-mediated signaling (GO:0019934)|metabolic process (GO:0008152)|signal transduction (GO:0007165)	cell projection (GO:0042995)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|metal ion binding (GO:0046872)			breast(1)|endometrium(4)|large_intestine(6)|lung(8)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	27					Caffeine(DB00201)	CTAATGACAGCGGCCATCTGC	0.502																																						ENST00000291539.6																			0				breast(1)|endometrium(4)|large_intestine(6)|lung(8)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	27						c.(1042-1044)gCg>gTg		phosphodiesterase 9A		C	VAL/ALA,VAL/ALA,VAL/ALA,VAL/ALA,VAL/ALA,VAL/ALA,VAL/ALA,VAL/ALA,VAL/ALA,VAL/ALA,VAL/ALA,VAL/ALA,VAL/ALA,VAL/ALA,VAL/ALA,VAL/ALA,VAL/ALA,VAL/ALA,VAL/ALA,VAL/ALA	0,4406		0,0,2203	131	110	117		863,662,659,884,740,422,422,785,563,392,641,737,422,392,842,920,965,422,422,1043	5.2	0.4	21	dbSNP_134	117	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense,missense,missense,missense,missense,missense,missense,missense,missense,missense,missense,missense,missense,missense,missense,missense,missense	PDE9A	NM_001001567.1,NM_001001568.1,NM_001001569.1,NM_001001570.1,NM_001001571.1,NM_001001572.1,NM_001001573.1,NM_001001574.1,NM_001001575.1,NM_001001576.1,NM_001001577.1,NM_001001578.1,NM_001001579.1,NM_001001580.1,NM_001001581.1,NM_001001582.1,NM_001001583.1,NM_001001584.2,NM_001001585.1,NM_002606.2	64,64,64,64,64,64,64,64,64,64,64,64,64,64,64,64,64,64,64,64	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	288/534,221/467,220/466,295/541,247/493,141/387,141/387,262/508,188/434,131/377,214/460,246/492,141/387,131/377,281/527,307/553,322/568,141/387,141/387,348/594	44180975	1,13005	2203	4300	6503	SO:0001583	missense	5152				platelet activation|signal transduction	cytosol|endoplasmic reticulum|Golgi apparatus|perinuclear region of cytoplasm|ruffle membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding|protein binding	g.chr21:44180975C>T	AF048837	CCDS13690.1, CCDS33567.1, CCDS33568.1, CCDS33569.1, CCDS33570.1, CCDS33571.1, CCDS42941.1, CCDS42942.1, CCDS42943.1, CCDS42944.1, CCDS42945.1, CCDS42946.1, CCDS42947.1	21q22.3	2005-11-29			ENSG00000160191	ENSG00000160191	3.1.4.17	"Phosphodiesterases"	8795	protein-coding gene	gene with protein product		602973				9624146	Standard	NM_001001584		Approved		uc002zbm.3	O76083	OTTHUMG00000086825	ENST00000291539.6:c.1043C>T	21.37:g.44180975C>T	ENSP00000291539:p.Ala348Val					PDE9A_ENST00000398236.3_Missense_Mutation_p.A262V|PDE9A_ENST00000398224.3_Missense_Mutation_p.A221V|PDE9A_ENST00000398227.3_Missense_Mutation_p.A188V|PDE9A_ENST00000539837.1_Missense_Mutation_p.A220V|PDE9A_ENST00000398232.3_Missense_Mutation_p.A281V|PDE9A_ENST00000470987.1_3'UTR|PDE9A_ENST00000335512.4_Missense_Mutation_p.A288V|PDE9A_ENST00000398225.3_Missense_Mutation_p.A307V|PDE9A_ENST00000328862.6_Missense_Mutation_p.A322V|PDE9A_ENST00000335440.6_Missense_Mutation_p.A246V|PDE9A_ENST00000398234.3_Missense_Mutation_p.A247V|PDE9A_ENST00000398229.3_Missense_Mutation_p.A214V|PDE9A_ENST00000349112.3_Missense_Mutation_p.A220V|PDE9A_ENST00000380328.2_Missense_Mutation_p.A295V	p.A348V	NM_002606.2	NP_002597.1	O76083	PDE9A_HUMAN			13	1103	+			348			Catalytic (By similarity).		B2RBI5|B4DFI5|D3DSJ8|D3DSJ9|O75490|O75491|O95225|Q53Y40|Q5QD39|Q86SF7|Q86SI6|Q86SJ3|Q86WN3|Q86WN4|Q86WN5|Q86WN6|Q86WN7|Q86WN8|Q86WN9|Q86WP0	Missense_Mutation	SNP	ENST00000291539.6	37	c.1043C>T	CCDS13690.1	.	.	.	.	.	.	.	.	.	.	C	34	5.374640	0.95923	0.0	1.16E-4	ENSG00000160191	ENST00000335512;ENST00000539837;ENST00000291539;ENST00000380328;ENST00000398232;ENST00000398234;ENST00000398236;ENST00000328862;ENST00000335440;ENST00000398225;ENST00000398229;ENST00000398227;ENST00000349112;ENST00000398224	D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.87334	-2.24;-2.24;-2.24;-2.24;-2.24;-2.24;-2.24;-2.24;-2.24;-2.24;-2.24;-2.24;-2.24;-2.24	5.15	5.15	0.70609	Metal-dependent phosphohydrolase, HD domain (1);5&apos (2);-cyclic nucleotide phosphodiesterase, catalytic domain (2);3&apos (2);	0.051489	0.85682	D	0.000000	D	0.95290	0.8472	H	0.95224	3.64	0.51482	D	0.999928	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.89917	0.994;1.0;0.998;0.998;1.0;1.0;0.999;0.998;0.998;0.998;0.998;0.999;0.999;1.0;0.998;1.0	P;P;P;P;P;P;P;P;P;P;P;P;P;P;P;P	0.62885	0.595;0.894;0.777;0.595;0.852;0.898;0.725;0.777;0.878;0.675;0.675;0.852;0.813;0.852;0.777;0.908	D	0.96728	0.9537	10	0.87932	D	0	.	18.6364	0.91380	0.0:1.0:0.0:0.0	.	220;281;262;247;322;307;240;288;131;188;214;220;246;295;221;348	F5GWD0;O76083-13;O76083-8;O76083-6;O76083-15;O76083-14;O76083-16;O76083-2;O76083-10;O76083-9;O76083-11;O76083-4;O76083-12;O76083-5;O76083-3;O76083	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;PDE9A_HUMAN	V	288;220;348;295;281;247;262;322;246;307;214;188;220;221	ENSP00000335242:A288V;ENSP00000441899:A220V;ENSP00000291539:A348V;ENSP00000369685:A295V;ENSP00000381287:A281V;ENSP00000381289:A247V;ENSP00000381291:A262V;ENSP00000328699:A322V;ENSP00000335365:A246V;ENSP00000381281:A307V;ENSP00000381285:A214V;ENSP00000381283:A188V;ENSP00000344730:A220V;ENSP00000381280:A221V	ENSP00000291539:A348V	A	+	2	0	PDE9A	43054044	1.000000	0.71417	0.384000	0.26145	0.954000	0.61252	7.033000	0.76504	2.382000	0.81193	0.655000	0.94253	GCG		0.502	PDE9A-016	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000195466.1			7	29	0	0	0	1	0	7	29					T	44180975	C	T	44180975	3	4	337	1	0	0	0	0	1	0	0	0	11655	768	27	1	1173	1	PDE9A	21	44180975	Missense_Mutation	SNP	C	TCGA-KK-A8I9-01A-11D-A364-08		44180975	3948920	56	17098											
GRAP2	9402	broad.mit.edu	37	chr22	40366977	40366977	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gacgagctggggttccacagCggggaggtggtggaggtcct	6	7	20	8	2	0	0	0	0	0	0	2	4	2	2	2	8	2	2	2	8	0	1	rs201763751	byFrequency	TCGA-KK-A8I9-01A-11D-A364-08	TCGA-KK-A8I9-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bebc84b6-9179-420b-8207-858b999e8c0c	50b1e243-b45a-42a1-8692-b7ae5d51250f	g.chr22:40366977C>T	ENST00000344138.4	+	8	1145	c.882C>T	c.(880-882)agC>agT	p.S294S	GRAP2_ENST00000544756.1_Silent_p.S222S|GRAP2_ENST00000399090.2_Silent_p.S181S|GRAP2_ENST00000407075.3_Silent_p.S294S|GRAP2_ENST00000543252.1_Intron|GRAP2_ENST00000540310.1_Silent_p.S228S	NM_004810.2	NP_004801.1	O75791	GRAP2_HUMAN	GRB2-related adaptor protein 2	294	SH3 2. {ECO:0000255|PROSITE- ProRule:PRU00192}.				cell-cell signaling (GO:0007267)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|positive regulation of signal transduction (GO:0009967)|Ras protein signal transduction (GO:0007265)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|nucleus (GO:0005634)	SH3/SH2 adaptor activity (GO:0005070)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	14						GGTTCCACAGCGGGGAGGTGG	0.647													C|||	4	0.000798722	8e-04	0	5008	,	,		15895	0.003		0	False		,,,				2504	0					ENST00000344138.4																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	14						c.(880-882)agC>agT		GRB2-related adaptor protein 2							70	65	67					22																	40366977		2203	4300	6503	SO:0001819	synonymous_variant	9402				cell-cell signaling|Ras protein signal transduction|T cell costimulation|T cell receptor signaling pathway	cytosol	SH3/SH2 adaptor activity	g.chr22:40366977C>T	AF102694	CCDS13999.1	22q13.2	2013-02-14			ENSG00000100351	ENSG00000100351		"SH2 domain containing"	4563	protein-coding gene	gene with protein product		604518				9878555, 10224278	Standard	XM_005261836		Approved	Grf40, GrbX, GRBLG, GADS, Mona	uc003ayh.2	O75791	OTTHUMG00000151097	ENST00000344138.4:c.882C>T	22.37:g.40366977C>T						GRAP2_ENST00000540310.1_Silent_p.S228S|GRAP2_ENST00000407075.3_Silent_p.S294S|GRAP2_ENST00000543252.1_Intron|GRAP2_ENST00000399090.2_Silent_p.S181S|GRAP2_ENST00000544756.1_Silent_p.S222S	p.S294S	NM_004810.2	NP_004801.1	O75791	GRAP2_HUMAN			8	1145	+			294			SH3 2.		B7Z8I3|O43726|Q9NRB7	Silent	SNP	ENST00000344138.4	37	c.882C>T	CCDS13999.1																																																																																				0.647	GRAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321295.1	NM_004810		4	54	0	0	0	1	0	4	54					T	40366977	C	T	40366977	2	4	337	1	0	0	0	0	0	0	0	1	6754	767	27	1		1	GRAP2	22	40366977	Silent	SNP	C	TCGA-KK-A8I9-01A-11D-A364-08		40366977	10937589	57	17099											
ADAR	103	broad.mit.edu	37	chr1	154573599	154573599	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgggcatattctaacagccCgctgatggggttcttcagct	7	12	11	11	1	3	1	1	1	2	0	3	1	3	1	1	3	3	4	1	3	2	5			TCGA-KK-A8IA-01A-11D-A364-08	TCGA-KK-A8IA-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4302b78b-6ed4-42e0-b730-520da1966483	48663fd9-664b-4ba1-a992-df8b0bc460e8	g.chr1:154573599C>T	ENST00000368474.4	-	2	1718	c.1519G>A	c.(1519-1521)Ggg>Agg	p.G507R	ADAR_ENST00000471068.1_5'Flank|ADAR_ENST00000292205.5_Missense_Mutation_p.G550R|ADAR_ENST00000368471.3_Missense_Mutation_p.G212R	NM_001111.4|NM_015840.3|NM_015841.3	NP_001102|NP_056655.2|NP_056656.2	P55265	DSRAD_HUMAN	adenosine deaminase, RNA-specific	507	DRBM 1. {ECO:0000255|PROSITE- ProRule:PRU00266}.				adenosine to inosine editing (GO:0006382)|base conversion or substitution editing (GO:0016553)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|miRNA loading onto RISC involved in gene silencing by miRNA (GO:0035280)|mRNA modification (GO:0016556)|mRNA processing (GO:0006397)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein kinase activity by regulation of protein phosphorylation (GO:0044387)|negative regulation of viral genome replication (GO:0045071)|positive regulation of viral genome replication (GO:0045070)|pre-miRNA processing (GO:0031054)|protein export from nucleus (GO:0006611)|protein import into nucleus (GO:0006606)|response to interferon-alpha (GO:0035455)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|supraspliceosomal complex (GO:0044530)	DNA binding (GO:0003677)|double-stranded RNA adenosine deaminase activity (GO:0003726)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.G507W(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(4)|prostate(2)|skin(2)	51	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.0997)		LUSC - Lung squamous cell carcinoma(543;0.185)	Colorectal(1306;0.115)		TCTAACAGCCCGCTGATGGGG	0.527																																						ENST00000368474.4																			1	Substitution - Missense(1)	p.G507W(1)	lung(1)	NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(4)|prostate(2)|skin(2)	51						c.(1519-1521)Ggg>Agg		adenosine deaminase, RNA-specific							96	98	97					1																	154573599		2203	4300	6503	SO:0001583	missense	103				adenosine to inosine editing|gene silencing by RNA|mRNA modification|mRNA processing|type I interferon-mediated signaling pathway	cytoplasm|nucleolus|nucleoplasm	DNA binding|double-stranded RNA adenosine deaminase activity|metal ion binding	g.chr1:154573599C>T	BC038227	CCDS1071.1, CCDS30879.1	1q21.3	2012-03-22			ENSG00000160710	ENSG00000160710	3.5.4.-		225	protein-coding gene	gene with protein product		146920	"interferon-induced protein 4"	IFI4, G1P1		7972084	Standard	NM_001111		Approved	ADAR1	uc001ffh.3	P55265	OTTHUMG00000037261	ENST00000368474.4:c.1519G>A	1.37:g.154573599C>T	ENSP00000357459:p.Gly507Arg					ADAR_ENST00000368471.3_Missense_Mutation_p.G212R|ADAR_ENST00000292205.5_Missense_Mutation_p.G550R	p.G507R	NM_001111.4|NM_015840.3|NM_015841.3	NP_001102.2|NP_056655.2|NP_056656.2	P55265	DSRAD_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.185)	Colorectal(1306;0.115)	2	1718	-	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.0997)		507			DRBM 1.		B1AQQ9|B1AQR0|D3DV76|O15223|O43859|O43860|Q9BYM3|Q9BYM4	Missense_Mutation	SNP	ENST00000368474.4	37	c.1519G>A	CCDS1071.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.390126	0.82902	.	.	ENSG00000160710	ENST00000292205;ENST00000368474;ENST00000368471;ENST00000529168	T;T;T;T	0.75050	-0.9;-0.9;-0.9;-0.9	4.77	4.77	0.60923	Double-stranded RNA-binding (3);Double-stranded RNA-binding-like (1);	0.000000	0.85682	D	0.000000	T	0.69984	0.3172	N	0.10837	0.055	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;0.999	T	0.78016	-0.2369	10	0.59425	D	0.04	-22.976	18.0082	0.89215	0.0:1.0:0.0:0.0	.	507;507;507	P55265-3;P55265-2;P55265	.;.;DSRAD_HUMAN	R	550;507;212;502	ENSP00000292205:G550R;ENSP00000357459:G507R;ENSP00000357456:G212R;ENSP00000431794:G502R	ENSP00000292205:G550R	G	-	1	0	ADAR	152840223	1.000000	0.71417	1.000000	0.80357	0.647000	0.38526	7.112000	0.77086	2.479000	0.83701	0.561000	0.74099	GGG		0.527	ADAR-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000090691.2	NM_001111		11	54	0	0	0	1	0	11	54					T	154573599	C	T	154573599	3	4	338	1	0	0	0	0	1	0	0	0	281	652	23	2	2217	2	ADAR	1	154573599	Missense_Mutation	SNP	C	TCGA-KK-A8IA-01A-11D-A364-08		154573599	94677022	1	17100											
OR6K2	81448	broad.mit.edu	37	chr1	158669500	158669500	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acttgaggtccctggtcttaCggaaaaaaatatcttagctt	12	13	8	8	1	2	1	0	1	2	0	3	2	3	2	1	3	2	1	1	3	6	5	rs141972386		TCGA-KK-A8IA-01A-11D-A364-08	TCGA-KK-A8IA-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4302b78b-6ed4-42e0-b730-520da1966483	48663fd9-664b-4ba1-a992-df8b0bc460e8	g.chr1:158669500C>T	ENST00000359610.2	-	1	986	c.943G>A	c.(943-945)Gta>Ata	p.V315I		NM_001005279.1	NP_001005279.1	Q8NGY2	OR6K2_HUMAN	olfactory receptor, family 6, subfamily K, member 2	315						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V315I(1)		breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	46	all_hematologic(112;0.0378)					CCTGGTCTTACGGAAAAAAAT	0.368																																						ENST00000359610.2																			1	Substitution - Missense(1)	p.V315I(1)	large_intestine(1)	breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	46						c.(943-945)Gta>Ata		olfactory receptor, family 6, subfamily K, member 2		T	ILE/VAL	1,4405	825.9+/-416.6	0,1,2202	72	70	71		943	-9.4	0	1	dbSNP_134	71	0,8600		0,0,4300	no	missense	OR6K2	NM_001005279.1	29	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign	315/325	158669500	1,13005	2203	4300	6503	SO:0001583	missense	81448				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158669500C>T	BK004196	CCDS30902.1	1q23.1	2012-08-09			ENSG00000196171	ENSG00000196171		"GPCR / Class A : Olfactory receptors"	15029	protein-coding gene	gene with protein product							Standard	NM_001005279		Approved		uc001fsu.1	Q8NGY2	OTTHUMG00000022768	ENST00000359610.2:c.943G>A	1.37:g.158669500C>T	ENSP00000352626:p.Val315Ile						p.V315I	NM_001005279.1	NP_001005279.1	Q8NGY2	OR6K2_HUMAN			1	986	-	all_hematologic(112;0.0378)		315					B9EH33|Q6IFR6	Missense_Mutation	SNP	ENST00000359610.2	37	c.943G>A	CCDS30902.1	.	.	.	.	.	.	.	.	.	.	T	0.017	-1.500215	0.01001	2.27E-4	0.0	ENSG00000196171	ENST00000359610	T	0.01005	5.45	4.69	-9.38	0.00623	.	.	.	.	.	T	0.00109	0.0003	N	0.12182	0.205	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.48293	-0.9048	9	0.07813	T	0.8	.	2.6891	0.05116	0.2475:0.2546:0.3735:0.1244	.	315	Q8NGY2	OR6K2_HUMAN	I	315	ENSP00000352626:V315I	ENSP00000352626:V315I	V	-	1	0	OR6K2	156936124	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.204000	0.03017	-3.694000	0.00120	-1.327000	0.01280	GTA		0.368	OR6K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059061.1	NM_001005279		16	27	0	0	0	1	0	16	27					T	158669500	C	T	158669500	3	4	338	1	0	0	0	0	1	0	0	0	11202	536	19	1	35	1	OR6K2	1	158669500	Missense_Mutation	SNP	C	TCGA-KK-A8IA-01A-11D-A364-08	4095901	158669500	90581121	2	17101											
FCRL6	343413	broad.mit.edu	37	chr1	159778953	159778953	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgggagccaaggagggagaCtctgggctttactggtgtga	8	8	17	8	1	1	2	0	1	1	1	1	5	1	4	2	5	2	1	2	5	2	2			TCGA-KK-A8IA-01A-11D-A364-08	TCGA-KK-A8IA-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4302b78b-6ed4-42e0-b730-520da1966483	48663fd9-664b-4ba1-a992-df8b0bc460e8	g.chr1:159778953C>A	ENST00000368106.3	+	4	523	c.522C>A	c.(520-522)gaC>gaA	p.D174E	FCRL6_ENST00000321935.6_Missense_Mutation_p.D181E|FCRL6_ENST00000339348.5_Missense_Mutation_p.D174E|FCRL6_ENST00000392235.3_Intron	NM_001004310.2	NP_001004310.2	Q6DN72	FCRL6_HUMAN	Fc receptor-like 6	174	Ig-like C2-type 2.					external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)				NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	24	all_hematologic(112;0.0597)					AGGAGGGAGACTCTGGGCTTT	0.627																																						ENST00000321935.6																			0				NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	24						c.(541-543)gaC>gaA		Fc receptor-like 6							50	56	54					1																	159778953		2203	4300	6503	SO:0001583	missense	343413					integral to membrane		g.chr1:159778953C>A	AK131201	CCDS30912.1, CCDS60312.1	1q23.2	2013-01-11			ENSG00000181036	ENSG00000181036		"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	31910	protein-coding gene	gene with protein product		613562					Standard	NM_001004310		Approved	IFGP6, FLJ16056, FcRH6	uc001fud.4	Q6DN72	OTTHUMG00000035351	ENST00000368106.3:c.522C>A	1.37:g.159778953C>A	ENSP00000357086:p.Asp174Glu					FCRL6_ENST00000368106.3_Missense_Mutation_p.D174E|FCRL6_ENST00000339348.5_Missense_Mutation_p.D174E|FCRL6_ENST00000392235.3_Intron	p.D181E			Q6DN72	FCRL6_HUMAN			5	629	+	all_hematologic(112;0.0597)		174			Ig-like C2-type 2.		A1KXW6|A2A4D6|Q6DN73|Q6XRC3|Q6ZNI1	Missense_Mutation	SNP	ENST00000368106.3	37	c.543C>A	CCDS30912.1	.	.	.	.	.	.	.	.	.	.	C	10.03	1.239124	0.22711	.	.	ENSG00000181036	ENST00000321935;ENST00000339348;ENST00000368106	T;T;T	0.06142	3.34;3.34;3.34	4.64	1.7	0.24286	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.212117	0.23852	N	0.043932	T	0.08044	0.0201	M	0.79343	2.45	0.23962	N	0.996333	P;D;D	0.67145	0.864;0.996;0.987	P;P;P	0.61328	0.644;0.887;0.655	T	0.12604	-1.0541	10	0.36615	T	0.2	.	7.0091	0.24853	0.0:0.6956:0.0:0.3044	.	174;174;181	Q6DN72-3;Q6DN72;Q6DN72-2	.;FCRL6_HUMAN;.	E	181;174;174	ENSP00000320625:D181E;ENSP00000340949:D174E;ENSP00000357086:D174E	ENSP00000320625:D181E	D	+	3	2	FCRL6	158045577	0.011000	0.17503	0.970000	0.41538	0.145000	0.21501	-0.577000	0.05847	0.391000	0.25143	-0.237000	0.12165	GAC		0.627	FCRL6-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276853.1	NM_001004310		22	28	1	0	1.10513e-12	1	1.2179e-12	22	28					A	159778953	C	A	159778953	3	1	338	1	0	0	0	0	1	0	0	0	5799	564	20	5	536	5	FCRL6	1	159778953	Missense_Mutation	SNP	C	TCGA-KK-A8IA-01A-11D-A364-08	1109453	159778953	89471668	3	17102											
HMCN1	83872	broad.mit.edu	37	chr1	186088390	186088390	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acttgtgtcgctaggaatgcGgctggctctgcacatcgaca	8	10	12	11	3	1	0	0	0	1	0	3	2	1	1	0	3	2	4	0	3	2	2	rs374616091		TCGA-KK-A8IA-01A-11D-A364-08	TCGA-KK-A8IA-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4302b78b-6ed4-42e0-b730-520da1966483	48663fd9-664b-4ba1-a992-df8b0bc460e8	g.chr1:186088390G>A	ENST00000271588.4	+	78	12145	c.11916G>A	c.(11914-11916)gcG>gcA	p.A3972A	HMCN1_ENST00000367492.2_Silent_p.A3972A	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	3972	Ig-like C2-type 38.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						CTAGGAATGCGGCTGGCTCTG	0.398													g|||	1	0.000199681	0	0	5008	,	,		17805	0		0	False		,,,				2504	0.001					ENST00000271588.4																			0				NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						c.(11914-11916)gcG>gcA		hemicentin 1		A		3,4403	6.2+/-15.9	0,3,2200	121	114	117		11916	-3	0.9	1		117	0,8600		0,0,4300	no	coding-synonymous	HMCN1	NM_031935.2		0,3,6500	AA,AG,GG		0.0,0.0681,0.0231		3972/5636	186088390	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	83872				response to stimulus|visual perception	basement membrane	calcium ion binding	g.chr1:186088390G>A	AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"Fibulins", "Immunoglobulin superfamily / I-set domain containing"	19194	protein-coding gene	gene with protein product	"fibulin 6"	608548	"age-related macular degeneration 1 (senile macular degeneration)"	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.11916G>A	1.37:g.186088390G>A						HMCN1_ENST00000367492.2_Silent_p.A3972A	p.A3972A	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN			78	12145	+			3972			Ig-like C2-type 38.		A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Silent	SNP	ENST00000271588.4	37	c.11916G>A	CCDS30956.1																																																																																				0.398	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935		46	64	0	0	0	1	0	46	64					A	186088390	G	A	186088390	2	1	338	1	0	0	0	0	0	0	0	1	7220	1103	39	2		2	HMCN1	1	186088390	Silent	SNP	G	TCGA-KK-A8IA-01A-11D-A364-08	26309437	186088390	63162231	4	17103											
ACP1	52	broad.mit.edu	37	chr2	271876	271876	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttttaaaggtaacatttgTcgatcacccattgcagaagc	12	14	7	8	1	1	1	1	0	0	1	2	2	1	1	1	1	3	2	1	1	4	6			TCGA-KK-A8IA-01A-11D-A364-08	TCGA-KK-A8IA-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4302b78b-6ed4-42e0-b730-520da1966483	48663fd9-664b-4ba1-a992-df8b0bc460e8	g.chr2:271876T>G	ENST00000272065.5	+	2	147	c.54T>G	c.(52-54)tgT>tgG	p.C18W	ACP1_ENST00000272067.6_Missense_Mutation_p.C18W|ACP1_ENST00000407983.3_Missense_Mutation_p.C18W|ACP1_ENST00000405233.1_Missense_Mutation_p.C18W|ACP1_ENST00000439645.2_Missense_Mutation_p.C18W|ACP1_ENST00000484464.1_3'UTR	NM_004300.3	NP_004291.1	P24666	PPAC_HUMAN	acid phosphatase 1, soluble	18				CLGNICRS -> PARREAAR (in Ref. 5; AAB27085). {ECO:0000305}.		cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|extracellular vesicular exosome (GO:0070062)	acid phosphatase activity (GO:0003993)|non-membrane spanning protein tyrosine phosphatase activity (GO:0004726)			endometrium(1)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	12	all_hematologic(175;0.0429)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.00175)|Lung NSC(108;0.216)|all_epithelial(98;0.236)		all cancers(51;0.000391)|Epithelial(75;0.00281)|OV - Ovarian serous cystadenocarcinoma(76;0.00542)|GBM - Glioblastoma multiforme(21;0.127)	Adenine(DB00173)	GTAACATTTGTCGATCACCCA	0.453																																						ENST00000272067.6																			0				endometrium(1)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	12						c.(52-54)tgT>tgG		acid phosphatase 1, soluble							120	123	122					2																	271876		2203	4300	6503	SO:0001583	missense	52					cytoplasm|internal side of plasma membrane|nucleus|soluble fraction	acid phosphatase activity|identical protein binding|non-membrane spanning protein tyrosine phosphatase activity	g.chr2:271876T>G	M87546	CCDS1639.1, CCDS1640.1, CCDS46217.1	2p25	2011-06-09			ENSG00000143727	ENSG00000143727	3.1.3.2	"Protein tyrosine phosphatases / Class II Cys-based PTPs"	122	protein-coding gene	gene with protein product		171500					Standard	NM_001040649		Approved		uc002qwf.3	P24666	OTTHUMG00000086933	ENST00000272065.5:c.54T>G	2.37:g.271876T>G	ENSP00000272065:p.Cys18Trp					ACP1_ENST00000272065.5_Missense_Mutation_p.C18W|ACP1_ENST00000439645.2_Missense_Mutation_p.C18W|ACP1_ENST00000484464.1_3'UTR|ACP1_ENST00000407983.3_Missense_Mutation_p.C18W|ACP1_ENST00000405233.1_Missense_Mutation_p.C18W	p.C18W	NM_007099.3	NP_009030.1	P24666	PPAC_HUMAN		all cancers(51;0.000391)|Epithelial(75;0.00281)|OV - Ovarian serous cystadenocarcinoma(76;0.00542)|GBM - Glioblastoma multiforme(21;0.127)	2	150	+	all_hematologic(175;0.0429)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.00175)|Lung NSC(108;0.216)|all_epithelial(98;0.236)	18	CLGNICRS -> PARREAAR (in Ref. 5; AAB27085).				A8K1L9|B5MCC7|P24667|Q16035|Q16036|Q16725|Q3KQX8|Q53RU0	Missense_Mutation	SNP	ENST00000272065.5	37	c.54T>G	CCDS1639.1	.	.	.	.	.	.	.	.	.	.	T	18.16	3.562201	0.65538	.	.	ENSG00000143727	ENST00000272067;ENST00000272065;ENST00000407983;ENST00000439645;ENST00000405233;ENST00000449425	T;T;T;T;T	0.49720	0.77;0.77;0.77;0.77;0.77	5.63	-5.27	0.02763	Phosphotyrosine protein phosphatase I superfamily (3);	0.000000	0.85682	D	0.000000	T	0.77785	0.4182	H	0.99074	4.42	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.83898	0.0288	10	0.87932	D	0	-12.9314	14.9717	0.71238	0.0:0.6352:0.0:0.3648	.	18;18;18	P24666-2;P24666;B5MCC7	.;PPAC_HUMAN;.	W	18	ENSP00000272067:C18W;ENSP00000272065:C18W;ENSP00000385404:C18W;ENSP00000408596:C18W;ENSP00000384307:C18W	ENSP00000272065:C18W	C	+	3	2	ACP1	261876	0.993000	0.37304	0.909000	0.35828	0.992000	0.81027	0.233000	0.17911	-0.941000	0.03700	-0.290000	0.09829	TGT		0.453	ACP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000195862.3			34	37	0	0	0	1	0	34	37					G	271876	T	G	271876	3	3	338	1	0	0	0	0	1	0	0	0	162	1673	58	5	60	5	ACP1	2	271876	Missense_Mutation	SNP	T	TCGA-KK-A8IA-01A-11D-A364-08		271876	242927497	5	17104											
MPHOSPH10	10199	broad.mit.edu	37	chr2	71361867	71361867	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gaaactgaagatacaggtgtTttaaatgtaaagaaaaattc	19	11	8	3	0	0	3	0	1	0	2	1	4	0	3	0	1	2	2	0	1	9	5			TCGA-KK-A8IA-01A-11D-A364-08	TCGA-KK-A8IA-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4302b78b-6ed4-42e0-b730-520da1966483	48663fd9-664b-4ba1-a992-df8b0bc460e8	g.chr2:71361867T>C	ENST00000244230.2	+	4	1390	c.1038T>C	c.(1036-1038)gtT>gtC	p.V346V	MPHOSPH10_ENST00000498451.2_Silent_p.V346V	NM_005791.2	NP_005782.1	O00566	MPP10_HUMAN	M-phase phosphoprotein 10 (U3 small nucleolar ribonucleoprotein)	346					negative regulation of phosphatase activity (GO:0010923)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)|rRNA processing (GO:0006364)	chromosome (GO:0005694)|nucleolus (GO:0005730)|small nucleolar ribonucleoprotein complex (GO:0005732)	poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|pancreas(2)|skin(2)|stomach(1)	26						ATACAGGTGTTTTAAATGTAA	0.289																																						ENST00000244230.2																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|pancreas(2)|skin(2)|stomach(1)	26						c.(1036-1038)gtT>gtC		M-phase phosphoprotein 10 (U3 small nucleolar ribonucleoprotein)							62	72	69					2																	71361867		2202	4294	6496	SO:0001819	synonymous_variant	10199				RNA splicing, via transesterification reactions|rRNA processing	chromosome|nucleolus|small nucleolar ribonucleoprotein complex	protein binding	g.chr2:71361867T>C	X98494	CCDS1916.1	2p13.3	2014-06-12			ENSG00000124383	ENSG00000124383			7213	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 106"	605503				8885239, 9450966	Standard	NM_005791		Approved	MPP10, MPP10P, CT90, PPP1R106	uc002sht.2	O00566	OTTHUMG00000129715	ENST00000244230.2:c.1038T>C	2.37:g.71361867T>C						MPHOSPH10_ENST00000498451.2_Silent_p.V346V	p.V346V	NM_005791.2	NP_005782.1	O00566	MPP10_HUMAN			4	1390	+			346					A0AVJ8	Silent	SNP	ENST00000244230.2	37	c.1038T>C	CCDS1916.1																																																																																				0.289	MPHOSPH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251924.2	NM_005791		6	89	0	0	0	1	0	6	89					C	71361867	T	C	71361867	2	2	338	1	0	0	0	0	0	0	0	1	9725	1828	64	4		4	MPHOSPH10	2	71361867	Silent	SNP	T	TCGA-KK-A8IA-01A-11D-A364-08	71089991	71361867	171837506	6	17105											
FOXD4L1	200350	broad.mit.edu	37	chr2	114256921	114256921	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aagacggtaaaatcgatgtcCtgggagaggaggaagatgaa	16	6	15	4	2	0	4	0	1	0	3	2	8	1	6	1	4	0	1	1	4	5	1			TCGA-KK-A8IA-01A-11D-A364-08	TCGA-KK-A8IA-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4302b78b-6ed4-42e0-b730-520da1966483	48663fd9-664b-4ba1-a992-df8b0bc460e8	g.chr2:114256921C>T	ENST00000306507.5	+	1	261	c.88C>T	c.(88-90)Ctg>Ttg	p.L30L		NM_012184.4	NP_036316.1	Q9NU39	FX4L1_HUMAN	forkhead box D4-like 1	30					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|skin(2)	26						AATCGATGTCCTGGGAgagga	0.642																																						ENST00000306507.5																			0				NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|skin(2)	26						c.(88-90)Ctg>Ttg		forkhead box D4-like 1							20	33	28					2																	114256921		2161	4242	6403	SO:0001819	synonymous_variant	200350				axon extension involved in axon guidance|cartilage development|dichotomous subdivision of terminal units involved in ureteric bud branching|embryo development|enteric nervous system development|iridophore differentiation|lateral line nerve glial cell development|melanocyte differentiation|neural crest cell migration|pattern specification process|peripheral nervous system development|positive regulation of BMP signaling pathway|positive regulation of kidney development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chr2:114256921C>T	AF452723	CCDS2117.1	2q14.1	2008-02-05			ENSG00000184492	ENSG00000184492			18521	protein-coding gene	gene with protein product		611084				12421752, 15233989	Standard	NM_012184		Approved	FOXD5	uc002tjw.4	Q9NU39	OTTHUMG00000131359	ENST00000306507.5:c.88C>T	2.37:g.114256921C>T							p.L30L	NM_012184.4	NP_036316.1	Q9NU39	FX4L1_HUMAN			1	261	+			30					B3KWN1|B9EGF3	Silent	SNP	ENST00000306507.5	37	c.88C>T	CCDS2117.1																																																																																				0.642	FOXD4L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254148.1	NM_012184		4	90	0	0	0	1	0	4	90					T	114256921	C	T	114256921	2	4	338	1	0	0	0	0	0	0	0	1	6000	680	24	3		3	FOXD4L1	2	114256921	Silent	SNP	C	TCGA-KK-A8IA-01A-11D-A364-08	42895054	114256921	128942452	7	17106											
TTN	7273	broad.mit.edu	37	chr2	179432010	179432010	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggaggtcctggtctatctaaTacttttacatttactgggaa	10	15	9	7	0	2	0	0	0	2	0	3	2	3	2	1	4	3	0	1	4	6	7			TCGA-KK-A8IA-01A-11D-A364-08	TCGA-KK-A8IA-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4302b78b-6ed4-42e0-b730-520da1966483	48663fd9-664b-4ba1-a992-df8b0bc460e8	g.chr2:179432010T>G	ENST00000591111.1	-	276	74150	c.73926A>C	c.(73924-73926)gtA>gtC	p.V24642V	TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000589042.1_Silent_p.V26283V|TTN_ENST00000342992.6_Silent_p.V23715V|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Silent_p.V17410V|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Silent_p.V17343V|TTN_ENST00000460472.2_Silent_p.V17218V|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA			Q8WZ42	TITIN_HUMAN	titin	24642					adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GTCTATCTAATACTTTTACAT	0.403																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(78847-78849)gtA>gtC		titin							158	163	161					2																	179432010		1839	4079	5918	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179432010T>G	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.73926A>C	2.37:g.179432010T>G						TTN_ENST00000342175.6_Silent_p.V17410V|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000359218.5_Silent_p.V17343V|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000460472.2_Silent_p.V17218V|TTN_ENST00000591111.1_Silent_p.V24642V|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342992.6_Silent_p.V23715V|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000591332.1_RNA	p.V26283V	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		326	79073	-			24642			Fibronectin type-III 91.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	ENST00000591111.1	37	c.78849A>C																																																																																					0.403	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		4	102	0	0	0	1	0	4	102					G	179432010	T	G	179432010	2	3	338	1	0	0	0	0	0	0	0	1	16732	1393	49	5		5	TTN	2	179432010	Silent	SNP	T	TCGA-KK-A8IA-01A-11D-A364-08	65175089	179432010	63767363	8	17107											
FN1	2335	broad.mit.edu	37	chr2	216289830	216289830	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgcatacctgtctcttggcaGctgactccgttgcccaggca	6	11	10	14	1	1	1	0	1	1	0	3	1	2	1	3	2	4	5	3	2	1	3	rs138120768	byFrequency	TCGA-KK-A8IA-01A-11D-A364-08	TCGA-KK-A8IA-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4302b78b-6ed4-42e0-b730-520da1966483	48663fd9-664b-4ba1-a992-df8b0bc460e8	g.chr2:216289830G>A	ENST00000359671.1	-	7	1288	c.1023C>T	c.(1021-1023)agC>agT	p.S341S	FN1_ENST00000345488.5_Silent_p.S341S|FN1_ENST00000357867.4_Silent_p.S341S|FN1_ENST00000446046.1_Silent_p.S341S|FN1_ENST00000443816.1_Silent_p.S341S|FN1_ENST00000356005.4_Silent_p.S341S|FN1_ENST00000354785.4_Silent_p.S341S|FN1_ENST00000323926.6_Silent_p.S341S|FN1_ENST00000432072.2_Silent_p.S341S|FN1_ENST00000426059.1_Silent_p.S341S|FN1_ENST00000336916.4_Silent_p.S341S|FN1_ENST00000346544.3_Silent_p.S341S|FN1_ENST00000357009.2_Silent_p.S341S|FN1_ENST00000421182.1_Silent_p.S341S			P02751	FINC_HUMAN	fibronectin 1	341	Collagen-binding.|Fibronectin type-I 6. {ECO:0000255|PROSITE-ProRule:PRU00478}.				acute-phase response (GO:0006953)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|calcium-independent cell-matrix adhesion (GO:0007161)|cell adhesion (GO:0007155)|cell-substrate junction assembly (GO:0007044)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|integrin activation (GO:0033622)|leukocyte migration (GO:0050900)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of axon extension (GO:0045773)|regulation of cell shape (GO:0008360)|response to wounding (GO:0009611)|substrate adhesion-dependent cell spreading (GO:0034446)	apical plasma membrane (GO:0016324)|basal lamina (GO:0005605)|blood microparticle (GO:0072562)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|platelet alpha granule lumen (GO:0031093)	collagen binding (GO:0005518)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|peptidase activator activity (GO:0016504)|protease binding (GO:0002020)		FN1/ALK(2)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Ocriplasmin(DB08888)	TCTCTTGGCAGCTGACTCCGT	0.413													G|||	9	0.00179712	0	0.013	5008	,	,		21160	0		0	False		,,,				2504	0					ENST00000354785.4																		FN1/ALK(2)	0				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109						c.(1021-1023)agC>agT		fibronectin 1	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	G	,,,,,	0,4406		0,0,2203	189	198	195		1023,1023,1023,1023,1023,1023	5.8	1	2	dbSNP_134	195	10,8590	8.4+/-32.0	0,10,4290	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	FN1	NM_002026.2,NM_054034.2,NM_212474.1,NM_212476.1,NM_212478.1,NM_212482.1	,,,,,	0,10,6493	AA,AG,GG		0.1163,0.0,0.0769	,,,,,	341/2356,341/658,341/2177,341/2297,341/2331,341/2478	216289830	10,12996	2203	4300	6503	SO:0001819	synonymous_variant	2335				acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading	ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix	collagen binding|extracellular matrix structural constituent|heparin binding	g.chr2:216289830G>A		CCDS2399.1, CCDS2400.1, CCDS42813.1, CCDS42814.1, CCDS46510.1, CCDS46512.1	2q34	2014-01-30			ENSG00000115414	ENSG00000115414		"Fibronectin type III domain containing", "Endogenous ligands"	3778	protein-coding gene	gene with protein product	"migration-stimulating factor", "cold-insoluble globulin"	135600				2992939, 3003095	Standard	NM_054034		Approved	MSF, CIG, LETS, GFND2, FINC	uc002vfa.3	P02751	OTTHUMG00000133054	ENST00000359671.1:c.1023C>T	2.37:g.216289830G>A						FN1_ENST00000443816.1_Silent_p.S341S|FN1_ENST00000432072.2_Silent_p.S341S|FN1_ENST00000421182.1_Silent_p.S341S|FN1_ENST00000426059.1_Silent_p.S341S|FN1_ENST00000357867.4_Silent_p.S341S|FN1_ENST00000357009.2_Silent_p.S341S|FN1_ENST00000356005.4_Silent_p.S341S|FN1_ENST00000346544.3_Silent_p.S341S|FN1_ENST00000345488.5_Silent_p.S341S|FN1_ENST00000336916.4_Silent_p.S341S|FN1_ENST00000323926.6_Silent_p.S341S|FN1_ENST00000359671.1_Silent_p.S341S|FN1_ENST00000446046.1_Silent_p.S341S	p.S341S			P02751	FINC_HUMAN		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	7	1392	-		Renal(323;0.127)	341			Collagen-binding.|Fibronectin type-I 6.		B7ZLF0|E9PE77|E9PG29|O95609|O95610|Q14312|Q14325|Q14326|Q17RV7|Q564H7|Q585T2|Q59EH1|Q60FE4|Q68DP8|Q68DP9|Q68DT4|Q6LDP6|Q6MZS0|Q6MZU5|Q6N025|Q6N0A6|Q7Z391|Q86T27|Q8IVI8|Q96KP7|Q96KP8|Q96KP9|Q9H1B8|Q9HAP3|Q9UMK2	Silent	SNP	ENST00000359671.1	37	c.1023C>T																																																																																					0.413	FN1-204	KNOWN	basic	protein_coding	protein_coding		NM_212476		9	178	0	0	0	1	0	9	178					A	216289830	G	A	216289830	2	1	338	1	0	0	0	0	0	0	0	1	5962	962	34	3		3	FN1	2	216289830	Silent	SNP	G	TCGA-KK-A8IA-01A-11D-A364-08	36857820	216289830	26909543	9	17108											
TTC21A	199223	broad.mit.edu	37	chr3	39174617	39174617	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atgattccctcccagaagcaActggcagcctctatctgcat	10	10	7	14	0	2	2	0	1	2	1	4	2	4	2	3	1	4	3	3	1	3	2			TCGA-KK-A8IA-01A-11D-A364-08	TCGA-KK-A8IA-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4302b78b-6ed4-42e0-b730-520da1966483	48663fd9-664b-4ba1-a992-df8b0bc460e8	g.chr3:39174617A>G	ENST00000431162.2	+	20	2792	c.2658A>G	c.(2656-2658)caA>caG	p.Q886Q	TTC21A_ENST00000301819.6_Silent_p.Q887Q|TTC21A_ENST00000440121.1_Silent_p.Q838Q|TTC21A_ENST00000493856.1_3'UTR			Q8NDW8	TT21A_HUMAN	tetratricopeptide repeat domain 21A	886										NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(23)|ovary(1)|prostate(1)|skin(3)	50				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)		CCCAGAAGCAACTGGCAGCCT	0.502																																						ENST00000301819.6																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(23)|ovary(1)|prostate(1)|skin(3)	50						c.(2659-2661)caA>caG		tetratricopeptide repeat domain 21A							91	91	91					3																	39174617		1940	4150	6090	SO:0001819	synonymous_variant	199223						binding	g.chr3:39174617A>G	AJ487015	CCDS43068.1, CCDS46800.1, CCDS43068.2	3p22.2	2014-09-04			ENSG00000168026	ENSG00000168026		"Tetratricopeptide (TTC) repeat domain containing"	30761	protein-coding gene	gene with protein product		611430					Standard	NM_145755		Approved	STI2	uc003cjc.2	Q8NDW8	OTTHUMG00000155973	ENST00000431162.2:c.2658A>G	3.37:g.39174617A>G						TTC21A_ENST00000493856.1_3'UTR|TTC21A_ENST00000431162.2_Silent_p.Q886Q|TTC21A_ENST00000440121.1_Silent_p.Q838Q	p.Q887Q	NM_145755.2	NP_665698.2	Q8NDW8	TT21A_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)	20	2838	+			886					A1L388|B4DYF6|B4DYJ3|D3YTE7|D4PHA5|Q6P5W8|Q8N7G5|Q8NA02	Silent	SNP	ENST00000431162.2	37	c.2661A>G	CCDS46800.1																																																																																				0.502	TTC21A-021	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000377829.1	NM_145755		12	27	0	0	0	1	0	12	27					G	39174617	A	G	39174617	2	3	338	1	0	0	0	0	0	0	0	1	16684	40	2	4		4	TTC21A	3	39174617	Silent	SNP	A	TCGA-KK-A8IA-01A-11D-A364-08		39174617	158847813	10	17109											
CACNA1D	776	broad.mit.edu	37	chr3	53809970	53809970	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcctgtctcccagggaagctCtgtgaccctgagtcagatta	8	10	11	12	0	3	3	1	2	2	1	4	4	3	4	3	1	1	1	3	1	2	1			TCGA-KK-A8IA-01A-11D-A364-08	TCGA-KK-A8IA-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4302b78b-6ed4-42e0-b730-520da1966483	48663fd9-664b-4ba1-a992-df8b0bc460e8	g.chr3:53809970C>T	ENST00000350061.5	+	35	4771	c.4260C>T	c.(4258-4260)ctC>ctT	p.L1420L	CACNA1D_ENST00000422281.2_Silent_p.L1405L|CACNA1D_ENST00000540742.1_Silent_p.L312L|CACNA1D_ENST00000288139.4_Silent_p.L1440L	NM_001128840.1	NP_001122312.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit	1420	Dihydropyridine binding. {ECO:0000250}.				adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|energy reserve metabolic process (GO:0006112)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane repolarization during SA node cell action potential (GO:0086052)|positive regulation of calcium ion transport (GO:0051928)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of insulin secretion (GO:0050796)|regulation of potassium ion transmembrane transport (GO:1901379)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|sensory perception of sound (GO:0007605)|small molecule metabolic process (GO:0044281)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|ankyrin binding (GO:0030506)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)|voltage-gated calcium channel activity involved in cardiac muscle cell action potential (GO:0086007)|voltage-gated calcium channel activity involved SA node cell action potential (GO:0086059)			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	CAGGGAAGCTCTGTGACCCTG	0.493																																						ENST00000288139.3																			0				breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90						c.(4318-4320)ctC>ctT		calcium channel, voltage-dependent, L type, alpha 1D subunit	Verapamil(DB00661)						163	174	170					3																	53809970		2203	4300	6503	SO:0001819	synonymous_variant	776				axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr3:53809970C>T	AB209171	CCDS2872.1, CCDS46848.1, CCDS46849.1	3p14.3	2012-03-07			ENSG00000157388	ENSG00000157388		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1391	protein-coding gene	gene with protein product		114206		CCHL1A2, CACNL1A2		1664412	Standard	NM_000720		Approved	Cav1.3, CACH3, CACN4	uc003dgu.5	Q01668	OTTHUMG00000158278	ENST00000350061.5:c.4260C>T	3.37:g.53809970C>T						CACNA1D_ENST00000350061.5_Silent_p.L1420L|CACNA1D_ENST00000422281.2_Silent_p.L1405L|CACNA1D_ENST00000540742.1_Silent_p.L312L	p.L1440L	NM_000720.2	NP_000711.1	Q01668	CAC1D_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	36	4438	+			1420			Dihydropyridine binding (By similarity).|Phenylalkylamine binding (By similarity).		B0FYA3|Q13916|Q13931|Q71UT1|Q9UDC3	Silent	SNP	ENST00000350061.5	37	c.4320C>T	CCDS46848.1																																																																																				0.493	CACNA1D-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350557.1	NM_000720		50	76	0	0	0	1	0	50	76					T	53809970	C	T	53809970	2	4	338	1	0	0	0	0	0	0	0	1	2541	900	32	3		3	CACNA1D	3	53809970	Silent	SNP	C	TCGA-KK-A8IA-01A-11D-A364-08	14635353	53809970	144212460	11	17110											
ZIC4	84107	broad.mit.edu	37	chr3	147108912	147108913	+	Frame_Shift_Ins	INS	-	-	C																															gcgtgtagcacttgtcgcagINSccccgcaccttgcacgtgta																										TCGA-KK-A8IA-01A-11D-A364-08	TCGA-KK-A8IA-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4302b78b-6ed4-42e0-b730-520da1966483	48663fd9-664b-4ba1-a992-df8b0bc460e8	g.chr3:147108912_147108913insC	ENST00000383075.3	-	4	1321_1322	c.809_810insG	c.(808-810)ggcfs	p.G270fs	ZIC4_ENST00000425731.3_Frame_Shift_Ins_p.G308fs|ZIC4_ENST00000473123.1_Frame_Shift_Ins_p.G270fs|ZIC4_ENST00000472749.2_5'UTR|ZIC4_ENST00000484399.1_Frame_Shift_Ins_p.G270fs|ZIC4_ENST00000525172.2_Frame_Shift_Ins_p.G320fs|ZIC4_ENST00000491672.1_Frame_Shift_Ins_p.G64fs	NM_032153.5	NP_115529.2	Q8N9L1	ZIC4_HUMAN	Zic family member 4	270						nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(34)|upper_aerodigestive_tract(4)	57						ACTTGTCGCAGCCCCGCACCTT	0.639																																						ENST00000383075.3																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(34)|upper_aerodigestive_tract(4)	57						c.(808-810)gtgfs		Zic family member 4																																				SO:0001589	frameshift_variant	84107					nucleus	DNA binding|zinc ion binding	g.chr3:147108912_147108913insC	AF332509	CCDS43160.1, CCDS54652.1, CCDS54653.1, CCDS58857.1	3q24	2013-01-08	2003-02-21		ENSG00000174963	ENSG00000174963		"Zinc fingers, C2H2-type"	20393	protein-coding gene	gene with protein product		608948	"zinc finger protein of the cerebellum 4"				Standard	NM_001168378		Approved		uc011bno.2	Q8N9L1	OTTHUMG00000037281	ENST00000383075.3:c.810dupG	3.37:g.147108916_147108916dupC	ENSP00000372553:p.Gly270fs					ZIC4_ENST00000425731.3_Frame_Shift_Ins_p.V308fs|ZIC4_ENST00000484399.1_Frame_Shift_Ins_p.V270fs|ZIC4_ENST00000473123.1_Frame_Shift_Ins_p.V270fs|ZIC4_ENST00000472749.2_5'UTR|ZIC4_ENST00000491672.1_Frame_Shift_Ins_p.V64fs|ZIC4_ENST00000525172.2_Frame_Shift_Ins_p.V320fs	p.V270fs	NM_032153.5	NP_115529.2	Q8N9L1	ZIC4_HUMAN			4	1321_1322	-			270					A0AVA2|B2RMQ8|B4DF89|B7Z2L2|C9J7D5|J3KQG1|Q4G157|Q9BZ94	Frame_Shift_Ins	INS	ENST00000383075.3	37	c.809_810insG	CCDS43160.1																																																																																				0.639	ZIC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355504.1			21	26						21	26	---	---	---	---	C	147108913	-	C	147108912	7	5	338	1	0	1	1	0	0	0	0	0	17678	958	34	0	202	0	ZIC4	3	147108912	Frame_Shift_Ins	INS	-	TCGA-KK-A8IA-01A-11D-A364-08	93298942	147108912	50913518	12	17111											
ZIC1	7545	broad.mit.edu	37	chr3	147128235	147128235	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggttttggcgacgcggcggcGgcagccagcgcacagcacag	7	4	17	13	6	0	0	0	0	0	0	0	1	0	0	1	5	3	4	1	5	0	2			TCGA-KK-A8IA-01A-11D-A364-08	TCGA-KK-A8IA-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4302b78b-6ed4-42e0-b730-520da1966483	48663fd9-664b-4ba1-a992-df8b0bc460e8	g.chr3:147128235G>A	ENST00000282928.4	+	1	1065	c.336G>A	c.(334-336)gcG>gcA	p.A112A		NM_003412.3	NP_003403.2	Q15915	ZIC1_HUMAN	Zic family member 1	112	Poly-Ala.				adult walking behavior (GO:0007628)|brain development (GO:0007420)|cell differentiation (GO:0030154)|inner ear morphogenesis (GO:0042472)|pattern specification process (GO:0007389)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of smoothened signaling pathway (GO:0008589)|spinal cord development (GO:0021510)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(4)|cervix(1)|endometrium(2)|large_intestine(8)|lung(38)|ovary(1)|prostate(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	63						ACGCGGCGGCGGCAGCCAGCG	0.701																																						ENST00000282928.4																			0				central_nervous_system(4)|cervix(1)|endometrium(2)|large_intestine(8)|lung(38)|ovary(1)|prostate(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	63						c.(334-336)gcG>gcA		Zic family member 1							12	15	14					3																	147128235		2010	4135	6145	SO:0001819	synonymous_variant	7545				behavior|brain development|cell differentiation|inner ear morphogenesis|pattern specification process|positive regulation of protein import into nucleus|positive regulation of transcription, DNA-dependent|regulation of smoothened signaling pathway	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr3:147128235G>A	D76435	CCDS3136.1	3q24	2013-01-08	2011-05-19		ENSG00000152977	ENSG00000152977		"Zinc fingers, C2H2-type"	12872	protein-coding gene	gene with protein product		600470	"Zic family member 1 (odd-paired Drosophila homolog)", "Zic family member 1 (odd-paired homolog, Drosophila)"			8542595	Standard	NM_003412		Approved	ZIC, ZNF201	uc003ewe.3	Q15915	OTTHUMG00000159456	ENST00000282928.4:c.336G>A	3.37:g.147128235G>A							p.A112A	NM_003412.3	NP_003403.2	Q15915	ZIC1_HUMAN			1	1065	+			112			Poly-Ala.		Q2M3N1	Silent	SNP	ENST00000282928.4	37	c.336G>A	CCDS3136.1																																																																																				0.701	ZIC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355497.1	NM_003412		10	14	0	0	0	1	0	10	14					A	147128235	G	A	147128235	2	1	338	1	0	0	0	0	0	0	0	1	17675	1103	39	2		2	ZIC1	3	147128235	Silent	SNP	G	TCGA-KK-A8IA-01A-11D-A364-08	19323	147128235	50894195	13	17112											
EIF4G1	1981	broad.mit.edu	37	chr3	184046495	184046496	+	Frame_Shift_Ins	INS	-	-	T																															gctctacctagcggaactggINStaacacccattctgcaggaa																										TCGA-KK-A8IA-01A-11D-A364-08	TCGA-KK-A8IA-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4302b78b-6ed4-42e0-b730-520da1966483	48663fd9-664b-4ba1-a992-df8b0bc460e8	g.chr3:184046495_184046496insT	ENST00000346169.2	+	27	4301_4302	c.4030_4031insT	c.(4030-4032)gtafs	p.V1344fs	EIF4G1_ENST00000382330.3_Frame_Shift_Ins_p.V1351fs|EIF4G1_ENST00000350481.5_Frame_Shift_Ins_p.V1180fs|EIF4G1_ENST00000414031.1_Frame_Shift_Ins_p.V1304fs|EIF4G1_ENST00000434061.2_Frame_Shift_Ins_p.V1149fs|EIF4G1_ENST00000319274.6_Frame_Shift_Ins_p.V1344fs|EIF4G1_ENST00000352767.3_Frame_Shift_Ins_p.V1351fs|SNORD66_ENST00000390856.1_RNA|EIF4G1_ENST00000342981.4_Frame_Shift_Ins_p.V1345fs|EIF4G1_ENST00000411531.1_Frame_Shift_Ins_p.V1305fs|EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000435046.2_Frame_Shift_Ins_p.V1148fs|EIF4G1_ENST00000441154.1_Frame_Shift_Ins_p.V1181fs|EIF4G1_ENST00000424196.1_Frame_Shift_Ins_p.V1351fs|EIF4G1_ENST00000427845.1_Frame_Shift_Ins_p.V1258fs|EIF4G1_ENST00000392537.2_Frame_Shift_Ins_p.V1257fs	NM_198241.2	NP_937884	Q04637	IF4G1_HUMAN	eukaryotic translation initiation factor 4 gamma, 1	1344	MI. {ECO:0000255|PROSITE- ProRule:PRU00698}.				cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|cytokine-mediated signaling pathway (GO:0019221)|gene expression (GO:0010467)|insulin receptor signaling pathway (GO:0008286)|lung development (GO:0030324)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|regulation of translational initiation (GO:0006446)|response to ethanol (GO:0045471)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational initiation (GO:0006413)|viral process (GO:0016032)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	75	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			AGCGGAACTGGTAACACCCATT	0.53																																						ENST00000342981.4																			0				central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	75						c.(4033-4035)aacfs		eukaryotic translation initiation factor 4 gamma, 1																																				SO:0001589	frameshift_variant	1981				insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity	g.chr3:184046495_184046496insT	D12686	CCDS3259.1, CCDS3260.1, CCDS3261.1, CCDS46970.1, CCDS46970.2, CCDS54687.1, CCDS54688.1	3q27.1	2013-09-19			ENSG00000114867	ENSG00000114867		"Parkinson disease"	3296	protein-coding gene	gene with protein product		600495		EIF4G, EIF4F		1429670, 9372926, 21907011	Standard	NM_182917		Approved	p220, PARK18	uc010hxy.3	Q04637	OTTHUMG00000156784	ENST00000346169.2:c.4031dupT	3.37:g.184046496_184046496dupT	ENSP00000316879:p.Val1344fs					EIF4G1_ENST00000352767.3_Frame_Shift_Ins_p.N1351fs|EIF4G1_ENST00000411531.1_Frame_Shift_Ins_p.N1305fs|EIF4G1_ENST00000382330.3_Frame_Shift_Ins_p.N1351fs|EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000346169.2_Frame_Shift_Ins_p.N1344fs|EIF4G1_ENST00000414031.1_Frame_Shift_Ins_p.N1304fs|EIF4G1_ENST00000441154.1_Frame_Shift_Ins_p.N1181fs|EIF4G1_ENST00000319274.6_Frame_Shift_Ins_p.N1344fs|EIF4G1_ENST00000392537.2_Frame_Shift_Ins_p.N1257fs|EIF4G1_ENST00000427845.1_Frame_Shift_Ins_p.N1258fs|EIF4G1_ENST00000350481.5_Frame_Shift_Ins_p.N1180fs|EIF4G1_ENST00000434061.2_Frame_Shift_Ins_p.N1149fs|EIF4G1_ENST00000424196.1_Frame_Shift_Ins_p.N1351fs|EIF4G1_ENST00000435046.2_Frame_Shift_Ins_p.N1148fs	p.N1345fs	NM_182917.4	NP_886553.3	Q04637	IF4G1_HUMAN	Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		26	4447_4448	+	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		1344			MI.		D3DNT2|D3DNT4|D3DNT5|E9PFM1|G5E9S1|O43177|O95066|Q5HYG0|Q6ZN21|Q8N102	Frame_Shift_Ins	INS	ENST00000346169.2	37	c.4033_4034insT	CCDS3259.1																																																																																				0.53	EIF4G1-007	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000345733.1	NM_182917		45	69						45	69	---	---	---	---	T	184046496	-	T	184046495	7	5	338	1	0	1	1	0	0	0	0	0	5036	1261	44	0	4128	0	EIF4G1	3	184046495	Frame_Shift_Ins	INS	-	TCGA-KK-A8IA-01A-11D-A364-08	36918260	184046495	13975935	14	17113											
NAA15	80155	broad.mit.edu	37	chr4	140265373	140265373	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aggtggattatgaatatagtGaactactcttatatcagaat	15	14	8	4	0	2	3	1	2	1	1	2	4	2	4	0	2	2	0	0	2	9	6			TCGA-KK-A8IA-01A-11D-A364-08	TCGA-KK-A8IA-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4302b78b-6ed4-42e0-b730-520da1966483	48663fd9-664b-4ba1-a992-df8b0bc460e8	g.chr4:140265373G>A	ENST00000296543.5	+	6	894	c.571G>A	c.(571-573)Gaa>Aaa	p.E191K	NAA15_ENST00000398947.1_Missense_Mutation_p.E191K|NAA15_ENST00000480277.2_3'UTR	NM_057175.3	NP_476516.1	Q9BXJ9	NAA15_HUMAN	N(alpha)-acetyltransferase 15, NatA auxiliary subunit	191					angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|N-terminal protein amino acid acetylation (GO:0006474)|negative regulation of apoptotic process (GO:0043066)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|NatA complex (GO:0031415)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	N-acetyltransferase activity (GO:0008080)|poly(A) RNA binding (GO:0044822)|ribosome binding (GO:0043022)			NS(1)|endometrium(3)|large_intestine(7)|liver(2)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	29						TGAATATAGTGAACTACTCTT	0.333																																						ENST00000296543.5																			0				NS(1)|endometrium(3)|large_intestine(7)|liver(2)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	29						c.(571-573)Gaa>Aaa		N(alpha)-acetyltransferase 15, NatA auxiliary subunit							86	78	81					4																	140265373		1810	4077	5887	SO:0001583	missense	80155				angiogenesis|cell differentiation|N-terminal protein amino acid acetylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|transcription factor complex	protein binding	g.chr4:140265373G>A	AY039242	CCDS43270.1	4q31.1	2010-01-14	2010-01-14	2010-01-14	ENSG00000164134	ENSG00000164134		"N(alpha)-acetyltransferase subunits"	30782	protein-coding gene	gene with protein product		608000	"NMDA receptor regulated 1"	NARG1		12140756, 11478804, 19660095	Standard	XM_005263236		Approved	TBDN100, NATH, FLJ13340	uc003ihu.1	Q9BXJ9	OTTHUMG00000137363	ENST00000296543.5:c.571G>A	4.37:g.140265373G>A	ENSP00000296543:p.Glu191Lys					NAA15_ENST00000398947.1_Missense_Mutation_p.E191K|NAA15_ENST00000480277.2_3'UTR	p.E191K	NM_057175.3	NP_476516.1	Q9BXJ9	NAA15_HUMAN			6	894	+			191					D3DNY6|Q52LG9|Q8IWH4|Q8NEV2|Q9H8P6	Missense_Mutation	SNP	ENST00000296543.5	37	c.571G>A	CCDS43270.1	.	.	.	.	.	.	.	.	.	.	G	31	5.098606	0.94197	.	.	ENSG00000164134	ENST00000296543;ENST00000544077;ENST00000398947	T;T	0.60040	0.22;0.22	4.8	4.8	0.61643	Tetratricopeptide-like helical (1);	0.126383	0.50627	D	0.000109	T	0.81936	0.4928	M	0.93638	3.44	0.80722	D	1	D	0.69078	0.997	D	0.68765	0.96	D	0.86649	0.1897	10	0.66056	D	0.02	-15.1829	18.4096	0.90546	0.0:0.0:1.0:0.0	.	191	Q9BXJ9	NAA15_HUMAN	K	191;65;191	ENSP00000296543:E191K;ENSP00000381920:E191K	ENSP00000296543:E191K	E	+	1	0	NAA15	140484823	1.000000	0.71417	1.000000	0.80357	0.842000	0.47809	9.174000	0.94824	2.655000	0.90218	0.484000	0.47621	GAA		0.333	NAA15-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000267839.2	NM_057175		19	82	0	0	0	1	0	19	82					A	140265373	G	A	140265373	3	1	338	1	0	0	0	0	1	0	0	0	10118	1291	45	3	593	3	NAA15	4	140265373	Missense_Mutation	SNP	G	TCGA-KK-A8IA-01A-11D-A364-08		140265373	50888903	15	17114											
DCHS2	54798	broad.mit.edu	37	chr4	155253944	155253944	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccgcaaataaatccagcccGtgtaagggcggattccaaac	13	6	10	12	3	0	0	0	0	0	0	2	1	2	1	4	2	2	2	4	2	5	3			TCGA-KK-A8IA-01A-11D-A364-08	TCGA-KK-A8IA-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4302b78b-6ed4-42e0-b730-520da1966483	48663fd9-664b-4ba1-a992-df8b0bc460e8	g.chr4:155253944G>A	ENST00000357232.4	-	9	1918	c.1919C>T	c.(1918-1920)aCg>aTg	p.T640M	DCHS2_ENST00000339452.1_Missense_Mutation_p.T1139M|DCHS2_ENST00000507542.1_5'Flank	NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	640	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		AATCCAGCCCGTGTAAGGGCG	0.517																																						ENST00000357232.3																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176						c.(1918-1920)aCg>aTg		dachsous cadherin-related 2							50	53	52					4																	155253944		2203	4300	6503	SO:0001583	missense	54798				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:155253944G>A	BC140919	CCDS3785.1, CCDS47150.1	4q32.1	2014-06-04	2013-10-04	2004-09-03		ENSG00000197410		"Cadherins / Cadherin-related"	23111	protein-coding gene	gene with protein product	"cadherin-related family member 7"	612486	"cadherin-like 27", "dachsous 2 (Drosophila)"	CDH27, PCDH23		15003449	Standard	NM_017639		Approved	CDHJ, FLJ20047, PCDHJ, CDHR7	uc003inw.2	Q6V1P9		ENST00000357232.4:c.1919C>T	4.37:g.155253944G>A	ENSP00000349768:p.Thr640Met					DCHS2_ENST00000339452.1_Missense_Mutation_p.T1139M	p.T640M	NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN		LUSC - Lung squamous cell carcinoma(193;0.107)	9	1918	-	all_hematologic(180;0.208)	Renal(120;0.0854)	640			Cadherin 5.		B2RU14|E9PC11|Q4W5P9|Q6ZS61|Q9NXU8	Missense_Mutation	SNP	ENST00000357232.4	37	c.1919C>T	CCDS3785.1	.	.	.	.	.	.	.	.	.	.	G	26.9	4.781318	0.90282	.	.	ENSG00000197410	ENST00000357232;ENST00000339452;ENST00000544161	T;T	0.66280	-0.2;-0.2	5.06	4.2	0.49525	Cadherin (3);Cadherin-like (1);	0.097204	0.43110	D	0.000605	D	0.82761	0.5107	M	0.91972	3.26	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.81914	0.995;0.974	D	0.87258	0.2277	10	0.87932	D	0	.	15.3671	0.74531	0.0:0.2634:0.7366:0.0	.	1139;640	E9PC11;Q6V1P9	.;PCD23_HUMAN	M	640;1139;1139	ENSP00000349768:T640M;ENSP00000345062:T1139M	ENSP00000345062:T1139M	T	-	2	0	DCHS2	155473394	0.998000	0.40836	0.026000	0.17262	0.764000	0.43329	2.762000	0.47597	1.206000	0.43276	0.655000	0.94253	ACG		0.517	DCHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365281.2	NM_001142552		30	41	0	0	0	1	0	30	41					A	155253944	G	A	155253944	3	1	338	1	0	0	0	0	1	0	0	0	4288	1145	40	1	6995	1	DCHS2	4	155253944	Missense_Mutation	SNP	G	TCGA-KK-A8IA-01A-11D-A364-08	14988571	155253944	35900332	16	17115											
CTNND2	1501	broad.mit.edu	37	chr5	11023079	11023079	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctgtggactaggtctcgcAtggcgtatttgcctggaaaa	8	11	13	9	2	1	0	0	0	1	0	2	2	1	2	2	4	1	2	2	4	4	3			TCGA-KK-A8IA-01A-11D-A364-08	TCGA-KK-A8IA-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4302b78b-6ed4-42e0-b730-520da1966483	48663fd9-664b-4ba1-a992-df8b0bc460e8	g.chr5:11023079A>C	ENST00000304623.8	-	17	2990	c.2801T>G	c.(2800-2802)aTg>aGg	p.M934R	CTNND2_ENST00000495388.2_5'UTR|CTNND2_ENST00000359640.2_Missense_Mutation_p.M876R|CTNND2_ENST00000458100.2_Missense_Mutation_p.M501R|CTNND2_ENST00000503622.1_Missense_Mutation_p.M597R|CTNND2_ENST00000511377.1_Missense_Mutation_p.M843R	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	934					cell adhesion (GO:0007155)|learning (GO:0007612)|morphogenesis of a branching structure (GO:0001763)|multicellular organismal development (GO:0007275)|regulation of synaptic plasticity (GO:0048167)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						TAGGTCTCGCATGGCGTATTT	0.507																																						ENST00000304623.8																			0				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						c.(2800-2802)aTg>aGg		catenin (cadherin-associated protein), delta 2							136	110	119					5																	11023079		2203	4300	6503	SO:0001583	missense	1501				multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding	g.chr5:11023079A>C	U52828	CCDS3881.1, CCDS75227.1, CCDS75228.1	5p15.2	2013-02-14	2012-08-15		ENSG00000169862	ENSG00000169862		"Armadillo repeat containing"	2516	protein-coding gene	gene with protein product	"neural plakophilin-related arm-repeat protein"	604275	"catenin (cadherin-associated protein), delta 2 (neural plakophilin-related arm-repeat protein)"			9342840, 9223106	Standard	XM_005248251		Approved	NPRAP, GT24	uc003jfa.1	Q9UQB3	OTTHUMG00000090511	ENST00000304623.8:c.2801T>G	5.37:g.11023079A>C	ENSP00000307134:p.Met934Arg					CTNND2_ENST00000458100.2_Missense_Mutation_p.M501R|CTNND2_ENST00000495388.2_5'UTR|CTNND2_ENST00000511377.1_Missense_Mutation_p.M843R|CTNND2_ENST00000503622.1_Missense_Mutation_p.M597R|CTNND2_ENST00000359640.2_Missense_Mutation_p.M876R	p.M934R	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN			17	2990	-			934					B0FTZ7|O00379|O15390|O43206|O43840|Q13589|Q9UM66|Q9UPM3	Missense_Mutation	SNP	ENST00000304623.8	37	c.2801T>G	CCDS3881.1	.	.	.	.	.	.	.	.	.	.	A	22.2	4.259474	0.80246	.	.	ENSG00000169862	ENST00000304623;ENST00000359640;ENST00000511377;ENST00000538638;ENST00000458100;ENST00000503622	T;T;T;T;T	0.50001	0.76;0.76;0.76;0.76;0.76	5.81	5.81	0.92471	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.67776	0.2929	M	0.78049	2.395	0.80722	D	1	D;D;P	0.53885	0.963;0.963;0.94	P;P;P	0.60789	0.879;0.879;0.769	T	0.72194	-0.4364	10	0.87932	D	0	-23.2269	16.1699	0.81801	1.0:0.0:0.0:0.0	.	597;526;934	B4DRK2;B4DG58;Q9UQB3	.;.;CTND2_HUMAN	R	934;876;843;29;501;597	ENSP00000307134:M934R;ENSP00000352661:M876R;ENSP00000426510:M843R;ENSP00000391155:M501R;ENSP00000426887:M597R	ENSP00000307134:M934R	M	-	2	0	CTNND2	11076079	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	9.262000	0.95591	2.217000	0.71921	0.533000	0.62120	ATG		0.507	CTNND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206999.1	NM_001332		18	35	0	0	0	1	0	18	35					C	11023079	A	C	11023079	3	2	338	1	0	0	0	0	1	0	0	0	4020	217	8	5	900	5	CTNND2	5	11023079	Missense_Mutation	SNP	A	TCGA-KK-A8IA-01A-11D-A364-08		11023079	169892181	17	17116											
PECI	10455	broad.mit.edu	37	chr6	4130794	4130794	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	atagttctgcctggcagcttCctgaacggacgatgacaaac	11	9	10	11	2	1	2	0	2	1	0	2	4	2	3	2	2	4	3	2	2	3	3			TCGA-KK-A8IA-01A-11D-A364-08	TCGA-KK-A8IA-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4302b78b-6ed4-42e0-b730-520da1966483	48663fd9-664b-4ba1-a992-df8b0bc460e8	g.chr6:4130794C>A	ENST00000380118.3	-	4	349	c.313G>T	c.(313-315)Gaa>Taa	p.E105*	C6orf201_ENST00000333388.5_3'UTR|ECI2_ENST00000465828.1_Splice_Site_p.E75*|ECI2_ENST00000361538.2_Splice_Site_p.E75*|ECI2_ENST00000380125.2_Splice_Site_p.E75*|ECI2_ENST00000413766.2_5'UTR|C6orf201_ENST00000380175.4_3'UTR			O75521	ECI2_HUMAN	enoyl-CoA delta isomerase 2	105	ACB. {ECO:0000255|PROSITE- ProRule:PRU00573}.				fatty acid catabolic process (GO:0009062)	intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	dodecenoyl-CoA delta-isomerase activity (GO:0004165)|fatty-acyl-CoA binding (GO:0000062)|receptor binding (GO:0005102)			endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)	11						CTGGCAGCTTCCTGAACGGAC	0.438																																						ENST00000465828.1																			0				endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)	11						c.e4-1		enoyl-CoA delta isomerase 2							111	109	110					6																	4130794		2203	4300	6503	SO:0001630	splice_region_variant	10455				fatty acid metabolic process	mitochondrion|peroxisomal matrix	dodecenoyl-CoA delta-isomerase activity|fatty-acyl-CoA binding	g.chr6:4130794C>A	AF069301	CCDS4490.1, CCDS43420.1, CCDS43420.2	6p24.3	2011-03-15	2011-03-15	2011-03-15	ENSG00000198721	ENSG00000198721			14601	protein-coding gene	gene with protein product	"acyl-Coenzyme A binding domain containing 2", " Hepatocellular carcinoma-associated antigen 88"	608024	"peroxisomal D3,D2-enoyl-CoA isomerase"	PECI		10419495	Standard	NM_206836		Approved	ACBD2, DRS1, HCA88	uc003mwf.3	O75521	OTTHUMG00000014158	ENST00000380118.3:c.313-1G>T	6.37:g.4130794C>A						C6orf201_ENST00000333388.5_3'UTR|ECI2_ENST00000413766.2_5'UTR|ECI2_ENST00000361538.2_Splice_Site_p.E75_splice|C6orf201_ENST00000380175.4_3'UTR|ECI2_ENST00000380118.3_Splice_Site_p.E105_splice|ECI2_ENST00000380125.2_Splice_Site_p.E75_splice	p.E75_splice			O75521	ECI2_HUMAN			4	508	-			105			ACB.		Q5JYK5|Q5JYK7|Q7L124|Q8N0X0|Q9BUE9|Q9H0T9|Q9NQH1|Q9NYH7|Q9UN55	Splice_Site	SNP	ENST00000380118.3	37	c.222_splice	CCDS43420.2	.	.	.	.	.	.	.	.	.	.	C	25.2	4.615240	0.87359	.	.	ENSG00000198721	ENST00000380118;ENST00000380125;ENST00000361538;ENST00000465828;ENST00000495548	.	.	.	5.69	5.69	0.88448	.	1.620670	0.02815	N	0.124831	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.46703	T	0.11	.	17.2983	0.87175	0.0:1.0:0.0:0.0	.	.	.	.	X	105;75;75;75;152	.	ENSP00000354737:E75X	E	-	1	0	ECI2	4075793	1.000000	0.71417	1.000000	0.80357	0.684000	0.39900	5.977000	0.70492	2.676000	0.91093	0.655000	0.94253	GAA		0.438	ECI2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039716.4	NM_006117	Nonsense_Mutation	20	35	1	0	1.9806e-07	1	2.0971e-07	20	35					A	4130794	C	A	4130794	5	1	338	1	0	0	0	0	0	0	1	0	11716	869	30	5	899	5	PECI	6	4130794	Splice_Site	SNP	C	TCGA-KK-A8IA-01A-11D-A364-08		4130794	166984273	18	17117											
FILIP1	27145	broad.mit.edu	37	chr6	76023240	76023240	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	caactctttggtcagattgaGaacctcctgccccatgtttt	8	14	7	12	0	2	2	1	1	1	2	3	3	3	2	4	1	3	1	4	1	2	4			TCGA-KK-A8IA-01A-11D-A364-08	TCGA-KK-A8IA-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4302b78b-6ed4-42e0-b730-520da1966483	48663fd9-664b-4ba1-a992-df8b0bc460e8	g.chr6:76023240G>A	ENST00000237172.7	-	5	2638	c.2308C>T	c.(2308-2310)Ctc>Ttc	p.L770F	FILIP1_ENST00000393004.2_Missense_Mutation_p.L770F|FILIP1_ENST00000498523.1_5'UTR|FILIP1_ENST00000370020.1_Missense_Mutation_p.L671F	NM_015687.2	NP_056502.1	Q7Z7B0	FLIP1_HUMAN	filamin A interacting protein 1	770										breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						GTCAGATTGAGAACCTCCTGC	0.433																																						ENST00000393004.2																			0				breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						c.(2308-2310)Ctc>Ttc		filamin A interacting protein 1							131	135	133					6																	76023240		2203	4300	6503	SO:0001583	missense	27145							g.chr6:76023240G>A	AB033101	CCDS4984.1, CCDS75480.1	6q14.1	2008-02-05			ENSG00000118407	ENSG00000118407			21015	protein-coding gene	gene with protein product		607307				10574462	Standard	XM_005248713		Approved	FILIP, KIAA1275	uc003pia.3	Q7Z7B0	OTTHUMG00000015056	ENST00000237172.7:c.2308C>T	6.37:g.76023240G>A	ENSP00000237172:p.Leu770Phe					FILIP1_ENST00000237172.7_Missense_Mutation_p.L770F|FILIP1_ENST00000498523.1_5'UTR|FILIP1_ENST00000370020.1_Missense_Mutation_p.L671F	p.L770F			Q7Z7B0	FLIP1_HUMAN			5	2529	-			770					B2RMU6|Q5VUL6|Q86TC3|Q8N8B9|Q96SK6|Q9NVI8|Q9ULE5	Missense_Mutation	SNP	ENST00000237172.7	37	c.2308C>T	CCDS4984.1	.	.	.	.	.	.	.	.	.	.	G	0.269	-0.994185	0.02145	.	.	ENSG00000118407	ENST00000393004;ENST00000237172;ENST00000370020	T;T;T	0.19669	2.14;2.13;2.14	5.66	3.74	0.42951	.	0.382752	0.26836	N	0.022244	T	0.06096	0.0158	L	0.40543	1.245	0.09310	N	1	B;B;B	0.09022	0.001;0.001;0.002	B;B;B	0.12837	0.002;0.003;0.008	T	0.18272	-1.0342	10	0.24483	T	0.36	-12.3923	7.1003	0.25333	0.1959:0.131:0.673:0.0	.	770;770;770	A8K2G7;Q7Z7B0;Q7Z7B0-2	.;FLIP1_HUMAN;.	F	770;770;671	ENSP00000376728:L770F;ENSP00000237172:L770F;ENSP00000359037:L671F	ENSP00000237172:L770F	L	-	1	0	FILIP1	76079960	0.000000	0.05858	0.999000	0.59377	0.885000	0.51271	-0.014000	0.12656	2.671000	0.90904	0.563000	0.77884	CTC		0.433	FILIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041263.1	XM_029179		35	58	0	0	0	1	0	35	58					A	76023240	G	A	76023240	3	1	338	1	0	0	0	0	1	0	0	0	5894	942	33	3	1341	3	FILIP1	6	76023240	Missense_Mutation	SNP	G	TCGA-KK-A8IA-01A-11D-A364-08	71892446	76023240	95091827	19	17118											
SYNE1	23345	broad.mit.edu	37	chr6	152711423	152711423	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taggttctgtacctttgagcGtggacggaggagctcatgat	8	12	14	7	2	2	2	1	2	1	0	2	5	2	5	1	4	3	3	1	4	2	4	rs371449580		TCGA-KK-A8IA-01A-11D-A364-08	TCGA-KK-A8IA-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4302b78b-6ed4-42e0-b730-520da1966483	48663fd9-664b-4ba1-a992-df8b0bc460e8	g.chr6:152711423G>A	ENST00000367255.5	-	53	8770	c.8169C>T	c.(8167-8169)caC>caT	p.H2723H	SYNE1_ENST00000448038.1_Silent_p.H2730H|SYNE1_ENST00000341594.5_Silent_p.H2762H|SYNE1_ENST00000265368.4_Silent_p.H2723H|SYNE1_ENST00000423061.1_Silent_p.H2730H	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	2723					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		ACCTTTGAGCGTGGACGGAGG	0.458										HNSCC(10;0.0054)																												ENST00000367255.5																			0				NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524						c.(8167-8169)caC>caT		spectrin repeat containing, nuclear envelope 1		A	,	0,4406		0,0,2203	146	123	131		8190,8169	-7.7	0	6		131	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous,coding-synonymous	SYNE1	NM_033071.3,NM_182961.3	,	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	,	2730/8750,2723/8798	152711423	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152711423G>A	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"myocyte nuclear envelope protein 1", "nuclear envelope spectrin repeat-1"	608441	"chromosome 6 open reading frame 98"	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.8169C>T	6.37:g.152711423G>A		HNSCC(10;0.0054)				SYNE1_ENST00000265368.4_Silent_p.H2723H|SYNE1_ENST00000341594.5_Silent_p.H2762H|SYNE1_ENST00000423061.1_Silent_p.H2730H|SYNE1_ENST00000448038.1_Silent_p.H2730H	p.H2723H	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	53	8770	-		Ovarian(120;0.0955)	2723					E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Silent	SNP	ENST00000367255.5	37	c.8169C>T	CCDS5236.2																																																																																				0.458	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		21	29	0	0	0	1	0	21	29					A	152711423	G	A	152711423	2	1	338	1	0	0	0	0	0	0	0	1	15442	1136	40	1		1	SYNE1	6	152711423	Silent	SNP	G	TCGA-KK-A8IA-01A-11D-A364-08	76688183	152711423	18403644	20	17119											
FNDC1	84624	broad.mit.edu	37	chr6	159653528	159653528	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctccctccaccccaagggcGccttcgcccagccccggcca	5	4	9	23	3	0	0	0	0	0	0	3	0	2	0	9	2	1	1	9	2	1	1			TCGA-KK-A8IA-01A-11D-A364-08	TCGA-KK-A8IA-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4302b78b-6ed4-42e0-b730-520da1966483	48663fd9-664b-4ba1-a992-df8b0bc460e8	g.chr6:159653528G>A	ENST00000297267.9	+	11	2184	c.1984G>A	c.(1984-1986)Gcc>Acc	p.A662T	FNDC1_ENST00000340366.6_Missense_Mutation_p.A599T	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	662					cellular response to hypoxia (GO:0071456)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of protein phosphorylation (GO:0001934)|regulation of protein transport (GO:0051223)	cell-cell junction (GO:0005911)|extracellular region (GO:0005576)|mitochondrial membrane (GO:0031966)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		CCCCAAGGGCGCCTTCGCCCA	0.672																																						ENST00000297267.9																			0				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93						c.(1984-1986)Gcc>Acc		fibronectin type III domain containing 1							19	23	22					6																	159653528		2010	4133	6143	SO:0001583	missense	84624					extracellular region		g.chr6:159653528G>A	AB058769	CCDS47512.1	6q25	2013-02-11			ENSG00000164694	ENSG00000164694		"Fibronectin type III domain containing"	21184	protein-coding gene	gene with protein product		609991	"fibronectin type III domain containing 2"	FNDC2		11347906	Standard	NM_032532		Approved	bA243O10.1, KIAA1866, dJ322A24.1	uc010kjv.3	Q4ZHG4	OTTHUMG00000015927	ENST00000297267.9:c.1984G>A	6.37:g.159653528G>A	ENSP00000297267:p.Ala662Thr					FNDC1_ENST00000340366.6_Missense_Mutation_p.A599T	p.A662T	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)	11	2184	+		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)	662					A6H8X2|B7ZBR4|B7ZBR5|B9EK49|Q5JPI0|Q5VU31|Q5VU32|Q5VXX4|Q70CQ6|Q96JG1	Missense_Mutation	SNP	ENST00000297267.9	37	c.1984G>A	CCDS47512.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.70|13.70	2.315774|2.315774	0.40996|0.40996	.|.	.|.	ENSG00000164694|ENSG00000164694	ENST00000297267;ENST00000340366|ENST00000329629	T;T|.	0.06528|.	3.29;4.14|.	4.14|4.14	-5.15|-5.15	0.02866|0.02866	.|.	1.873240|.	0.02219|.	N|.	0.063873|.	T|T	0.06962|0.06962	0.0177|0.0177	N|N	0.19112|0.19112	0.55|0.55	0.09310|0.09310	N|N	1|1	B;B|.	0.16396|.	0.017;0.01|.	B;B|.	0.10450|.	0.005;0.002|.	T|T	0.35101|0.35101	-0.9802|-0.9802	10|5	0.13470|.	T|.	0.59|.	-0.4303|-0.4303	6.2355|6.2355	0.20760|0.20760	0.4716:0.1416:0.3867:0.0|0.4716:0.1416:0.3867:0.0	.|.	599;662|.	Q4ZHG4-2;Q4ZHG4|.	.;FNDC1_HUMAN|.	T|H	662;599|557	ENSP00000297267:A662T;ENSP00000342460:A599T|.	ENSP00000297267:A662T|.	A|R	+|+	1|2	0|0	FNDC1|FNDC1	159573518|159573518	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.000000|0.000000	0.00434|0.00434	-1.225000|-1.225000	0.02956|0.02956	-0.810000|-0.810000	0.04375|0.04375	-0.302000|-0.302000	0.09304|0.09304	GCC|CGC		0.672	FNDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042897.3	NM_032532		19	23	0	0	0	1	0	19	23					A	159653528	G	A	159653528	3	1	338	1	0	0	0	0	1	0	0	0	5968	1087	38	1	2026	1	FNDC1	6	159653528	Missense_Mutation	SNP	G	TCGA-KK-A8IA-01A-11D-A364-08	6942105	159653528	11461539	21	17120											
WTAP	9589	broad.mit.edu	37	chr6	160174524	160174524	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	aaagttaatggcgaagtgtcGaatgcttatccaggagaatc	14	10	11	6	2	0	1	0	0	0	1	3	4	1	1	1	2	1	2	1	2	6	2			TCGA-KK-A8IA-01A-11D-A364-08	TCGA-KK-A8IA-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4302b78b-6ed4-42e0-b730-520da1966483	48663fd9-664b-4ba1-a992-df8b0bc460e8	g.chr6:160174524G>C	ENST00000358372.4	+	7	2242	c.485G>C	c.(484-486)cGa>cCa	p.R162P	SOD2_ENST00000546087.1_Intron	NM_001270531.1|NM_004906.4	NP_001257460.1|NP_004897.2	Q15007	FL2D_HUMAN	Wilms tumor 1 associated protein	162					cell cycle (GO:0007049)|mRNA methylation (GO:0080009)|mRNA processing (GO:0006397)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing (GO:0008380)	MIS complex (GO:0036396)|nuclear membrane (GO:0031965)|nuclear speck (GO:0016607)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)|skin(1)|urinary_tract(1)	18		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;1.75e-18)|BRCA - Breast invasive adenocarcinoma(81;5.93e-06)		GCGAAGTGTCGAATGCTTATC	0.428																																						ENST00000358372.4																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)|skin(1)|urinary_tract(1)	18						c.(484-486)cGa>cCa		Wilms tumor 1 associated protein							124	117	120					6																	160174524		2203	4300	6503	SO:0001583	missense	9589				cell cycle|mRNA processing|RNA splicing	nuclear membrane|nucleolus		g.chr6:160174524G>C	AJ276706	CCDS5266.1, CCDS5267.1, CCDS75542.1	6q25-q27	2008-02-05			ENSG00000146457	ENSG00000146457			16846	protein-coding gene	gene with protein product		605442				7788527, 11001926	Standard	NM_004906		Approved	KIAA0105, MGC3925	uc003qsl.4	Q15007	OTTHUMG00000015933	ENST00000358372.4:c.485G>C	6.37:g.160174524G>C	ENSP00000351141:p.Arg162Pro					SOD2_ENST00000546087.1_Intron	p.R162P	NM_001270531.1|NM_004906.4	NP_001257460.1|NP_004897.2	Q15007	FL2D_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;1.75e-18)|BRCA - Breast invasive adenocarcinoma(81;5.93e-06)	7	2242	+		Breast(66;0.000776)|Ovarian(120;0.0303)	162					Q5TCL8|Q5TCL9|Q96T28|Q9BYJ7|Q9H4E2	Missense_Mutation	SNP	ENST00000358372.4	37	c.485G>C	CCDS5266.1	.	.	.	.	.	.	.	.	.	.	G	35	5.508377	0.96386	.	.	ENSG00000146457	ENST00000358372	T	0.49432	0.78	6.17	6.17	0.99709	.	0.066055	0.64402	D	0.000005	T	0.69387	0.3105	M	0.83953	2.67	0.80722	D	1	D;D	0.76494	0.999;0.998	D;P	0.71656	0.974;0.899	T	0.70809	-0.4771	10	0.72032	D	0.01	-1.0237	20.8794	0.99867	0.0:0.0:1.0:0.0	.	162;162	A8K489;Q15007	.;FL2D_HUMAN	P	162	ENSP00000351141:R162P	ENSP00000351141:R162P	R	+	2	0	WTAP	160094514	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.841000	0.99482	2.941000	0.99782	0.655000	0.94253	CGA		0.428	WTAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042905.1	NM_152857		17	26	0	0	0	1	0	17	26					C	160174524	G	C	160174524	3	2	338	1	0	0	0	0	1	0	0	0	17406	1058	37	5	511	5	WTAP	6	160174524	Missense_Mutation	SNP	G	TCGA-KK-A8IA-01A-11D-A364-08	520996	160174524	10940543	22	17121											
POM121L12	285877	broad.mit.edu	37	chr7	53103840	53103840	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcccctggacagagagcccGccccgcaggccgccccgccg	6	2	12	21	5	0	1	0	0	0	1	1	3	1	2	9	2	1	1	9	2	0	0	rs565383229	byFrequency	TCGA-KK-A8IA-01A-11D-A364-08	TCGA-KK-A8IA-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4302b78b-6ed4-42e0-b730-520da1966483	48663fd9-664b-4ba1-a992-df8b0bc460e8	g.chr7:53103840G>A	ENST00000408890.4	+	1	492	c.476G>A	c.(475-477)cGc>cAc	p.R159H		NM_182595.3	NP_872401.3	Q8N7R1	P1L12_HUMAN	POM121 transmembrane nucleoporin-like 12	159								p.R159H(1)		endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						CAGAGAgcccgccccgcaggc	0.726													G|||	2	0.000399361	0	0	5008	,	,		10797	0		0	False		,,,				2504	0.002					ENST00000408890.4																			1	Substitution - Missense(1)	p.R159H(1)	lung(1)	endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						c.(475-477)cGc>cAc		POM121 transmembrane nucleoporin-like 12							13	16	15					7																	53103840		1848	4065	5913	SO:0001583	missense	285877							g.chr7:53103840G>A		CCDS43584.1	7p12.1	2012-03-13	2012-03-13		ENSG00000221900	ENSG00000221900			25369	protein-coding gene	gene with protein product			"POM121 membrane glycoprotein-like 12"				Standard	NM_182595		Approved	DKFZp564N2472	uc003tpz.3	Q8N7R1	OTTHUMG00000155995	ENST00000408890.4:c.476G>A	7.37:g.53103840G>A	ENSP00000386133:p.Arg159His						p.R159H	NM_182595.3	NP_872401.3	Q8N7R1	P1L12_HUMAN			1	492	+			159					Q8NDI9	Missense_Mutation	SNP	ENST00000408890.4	37	c.476G>A	CCDS43584.1	.	.	.	.	.	.	.	.	.	.	G	12.74	2.029590	0.35797	.	.	ENSG00000221900	ENST00000408890	T	0.23552	1.9	2.08	-4.17	0.03857	.	.	.	.	.	T	0.12902	0.0313	N	0.08118	0	0.09310	N	1	D	0.69078	0.997	P	0.48304	0.573	T	0.10776	-1.0615	9	0.40728	T	0.16	.	4.4869	0.11794	0.2735:0.3869:0.3396:0.0	.	159	Q8N7R1	P1L12_HUMAN	H	159	ENSP00000386133:R159H	ENSP00000386133:R159H	R	+	2	0	POM121L12	53071334	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-1.533000	0.02215	-1.234000	0.02548	0.555000	0.69702	CGC		0.726	POM121L12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342656.1	NM_182595		11	7	0	0	0	1	0	11	7					A	53103840	G	A	53103840	3	1	338	1	0	0	0	0	1	0	0	0	12241	1087	38	1	478	1	POM121L12	7	53103840	Missense_Mutation	SNP	G	TCGA-KK-A8IA-01A-11D-A364-08		53103840	106034823	23	17122											
LIMK1	3984	broad.mit.edu	37	chr7	73520433	73520433	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ctgctgattcaggaaaccagCcgcctgctccagctgaccct	8	8	9	16	1	1	2	1	2	0	0	2	3	2	3	5	1	5	3	5	1	1	1			TCGA-KK-A8IA-01A-11D-A364-08	TCGA-KK-A8IA-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4302b78b-6ed4-42e0-b730-520da1966483	48663fd9-664b-4ba1-a992-df8b0bc460e8	g.chr7:73520433C>G	ENST00000336180.2	+	7	792	c.741C>G	c.(739-741)agC>agG	p.S247R	LIMK1_ENST00000538333.3_Missense_Mutation_p.S213R|LIMK1_ENST00000418310.1_Missense_Mutation_p.S277R	NM_002314.3	NP_002305.1	P53667	LIMK1_HUMAN	LIM domain kinase 1	247	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.		S -> N (in dbSNP:rs55661242). {ECO:0000269|PubMed:17344846}.		actin cytoskeleton organization (GO:0030036)|axon guidance (GO:0007411)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|negative regulation of ubiquitin-protein transferase activity (GO:0051444)|nervous system development (GO:0007399)|positive regulation of actin filament bundle assembly (GO:0032233)|positive regulation of axon extension (GO:0045773)|positive regulation of stress fiber assembly (GO:0051496)|protein phosphorylation (GO:0006468)|Rho protein signal transduction (GO:0007266)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|neuron projection (GO:0043005)|nucleus (GO:0005634)	ATP binding (GO:0005524)|heat shock protein binding (GO:0031072)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	21		Lung NSC(55;0.137)			Dabrafenib(DB08912)	AGGAAACCAGCCGCCTGCTCC	0.632																																						ENST00000418310.1																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	21						c.(829-831)agC>agG		LIM domain kinase 1							135	135	135					7																	73520433		2203	4300	6503	SO:0001583	missense	3984				actin cytoskeleton organization|axon guidance|negative regulation of ubiquitin-protein ligase activity|positive regulation of actin filament bundle assembly|positive regulation of axon extension|Rho protein signal transduction	cytosol|growth cone|nucleus	ATP binding|heat shock protein binding|protein serine/threonine kinase activity|zinc ion binding	g.chr7:73520433C>G	D26309	CCDS5563.1, CCDS56491.1	7q11.23	2005-01-21			ENSG00000106683	ENSG00000106683			6613	protein-coding gene	gene with protein product		601329				8673124, 8812460	Standard	NM_002314		Approved	LIMK	uc003uaa.2	P53667	OTTHUMG00000023448	ENST00000336180.2:c.741C>G	7.37:g.73520433C>G	ENSP00000336740:p.Ser247Arg					LIMK1_ENST00000336180.2_Missense_Mutation_p.S247R|LIMK1_ENST00000538333.3_Missense_Mutation_p.S213R	p.S277R			P53667	LIMK1_HUMAN			7	933	+		Lung NSC(55;0.137)	247					B7Z6I8|D3DXF4|D3DXF5|O15283|Q15820|Q15821|Q75MU3|Q9Y5Q1	Missense_Mutation	SNP	ENST00000336180.2	37	c.831C>G	CCDS5563.1	.	.	.	.	.	.	.	.	.	.	C	17.22	3.334586	0.60853	.	.	ENSG00000106683	ENST00000418310;ENST00000419043;ENST00000336180;ENST00000538333	T;T;T	0.55234	0.53;0.53;0.53	4.84	3.04	0.35103	PDZ/DHR/GLGF (4);	0.000000	0.85682	D	0.000000	T	0.63733	0.2536	L	0.54323	1.7	0.53688	D	0.999977	D;D;D	0.89917	1.0;0.985;0.996	D;D;D	0.91635	0.999;0.949;0.962	T	0.60860	-0.7179	10	0.51188	T	0.08	-42.1968	9.1075	0.36707	0.0:0.8198:0.0:0.1802	.	142;213;247	Q59FA3;B7Z6I8;P53667	.;.;LIMK1_HUMAN	R	277;247;247;213	ENSP00000409717:S277R;ENSP00000336740:S247R;ENSP00000444452:S213R	ENSP00000336740:S247R	S	+	3	2	LIMK1	73158369	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	1.638000	0.37165	0.493000	0.27837	-0.266000	0.10368	AGC		0.632	LIMK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252335.2	NM_002314		41	62	0	0	0	1	0	41	62					G	73520433	C	G	73520433	3	3	338	1	0	0	0	0	1	0	0	0	8801	738	26	5	767	5	LIMK1	7	73520433	Missense_Mutation	SNP	C	TCGA-KK-A8IA-01A-11D-A364-08	20416593	73520433	85618230	24	17123											
LONRF1	91694	broad.mit.edu	37	chr8	12600768	12600768	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atatgattccgctctgtaaaTttttacaatcaagtcactgg	12	15	6	8	1	3	1	2	1	1	0	4	1	4	1	1	1	1	2	1	1	6	6			TCGA-KK-A8IA-01A-11D-A364-08	TCGA-KK-A8IA-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4302b78b-6ed4-42e0-b730-520da1966483	48663fd9-664b-4ba1-a992-df8b0bc460e8	g.chr8:12600768T>G	ENST00000398246.3	-	2	814	c.745A>C	c.(745-747)Att>Ctt	p.I249L	LONRF1_ENST00000533751.1_5'UTR|LONRF1_ENST00000530693.1_5'UTR	NM_152271.3	NP_689484.3	Q17RB8	LONF1_HUMAN	LON peptidase N-terminal domain and ring finger 1	249							ATP-dependent peptidase activity (GO:0004176)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)|upper_aerodigestive_tract(2)	19				READ - Rectum adenocarcinoma(644;0.236)		GCTCTGTAAATTTTTACAATC	0.303																																						ENST00000398246.3																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)|upper_aerodigestive_tract(2)	19						c.(745-747)Att>Ctt		LON peptidase N-terminal domain and ring finger 1							58	55	56					8																	12600768		1781	4054	5835	SO:0001583	missense	91694				proteolysis		ATP-dependent peptidase activity|zinc ion binding	g.chr8:12600768T>G	AK074329	CCDS5987.2	8p23.1	2013-01-09			ENSG00000154359	ENSG00000154359		"RING-type (C3HC4) zinc fingers"	26302	protein-coding gene	gene with protein product						18253036	Standard	XM_005273685		Approved	FLJ23749, RNF191	uc003wwd.1	Q17RB8	OTTHUMG00000165475	ENST00000398246.3:c.745A>C	8.37:g.12600768T>G	ENSP00000381298:p.Ile249Leu					LONRF1_ENST00000533751.1_5'UTR|LONRF1_ENST00000530693.1_5'UTR	p.I249L	NM_152271.3	NP_689484.3	Q17RB8	LONF1_HUMAN		READ - Rectum adenocarcinoma(644;0.236)	2	814	-			249					B4DM29|B4DU84|Q8TEA0|Q9BSV1	Missense_Mutation	SNP	ENST00000398246.3	37	c.745A>C	CCDS5987.2	.	.	.	.	.	.	.	.	.	.	T	3.592	-0.083480	0.07141	.	.	ENSG00000154359	ENST00000398246	T	0.27256	1.68	4.95	2.6	0.31112	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.145090	0.29015	U	0.013420	T	0.11153	0.0272	N	0.14661	0.345	0.80722	D	1	B	0.09022	0.002	B	0.09377	0.004	T	0.11641	-1.0579	10	0.07175	T	0.84	-7.006	7.3795	0.26847	0.0:0.3041:0.0:0.6959	.	249	Q17RB8	LONF1_HUMAN	L	249	ENSP00000381298:I249L	ENSP00000381298:I249L	I	-	1	0	LONRF1	12645139	1.000000	0.71417	1.000000	0.80357	0.500000	0.33767	0.954000	0.29175	0.971000	0.38288	0.482000	0.46254	ATT		0.303	LONRF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251693.2	NM_152271		17	5	0	0	0	1	0	17	5					G	12600768	T	G	12600768	3	3	338	1	0	0	0	0	1	0	0	0	8894	1493	52	5	1620	5	LONRF1	8	12600768	Missense_Mutation	SNP	T	TCGA-KK-A8IA-01A-11D-A364-08		12600768	133763254	25	17124											
NSMAF	8439	broad.mit.edu	37	chr8	59511849	59511849	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	tagccaaatattagatcaatCcactcgtgaaggtgttcaga	14	11	8	8	1	2	3	2	1	0	2	4	3	3	3	2	1	1	1	2	1	6	4			TCGA-KK-A8IA-01A-11D-A364-08	TCGA-KK-A8IA-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4302b78b-6ed4-42e0-b730-520da1966483	48663fd9-664b-4ba1-a992-df8b0bc460e8	g.chr8:59511849C>G	ENST00000038176.3	-	19	1739	c.1527G>C	c.(1525-1527)tgG>tgC	p.W509C	NSMAF_ENST00000519858.1_5'Flank|NSMAF_ENST00000427130.2_Missense_Mutation_p.W540C	NM_003580.3	NP_003571.2	Q92636	FAN_HUMAN	neutral sphingomyelinase (N-SMase) activation associated factor	509	BEACH. {ECO:0000255|PROSITE- ProRule:PRU00026}.				ceramide metabolic process (GO:0006672)|intracellular signal transduction (GO:0035556)|positive regulation of apoptotic process (GO:0043065)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	receptor signaling protein activity (GO:0005057)|sphingomyelin phosphodiesterase activator activity (GO:0016230)	p.W509C(1)|p.W540C(1)		autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	38		all_lung(136;0.174)|Lung NSC(129;0.2)				TTAGATCAATCCACTCGTGAA	0.373																																						ENST00000038176.3																			2	Substitution - Missense(2)	p.W509C(1)|p.W540C(1)	lung(2)	autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	38						c.(1525-1527)tgG>tgC		neutral sphingomyelinase (N-SMase) activation associated factor							168	162	164					8																	59511849		2203	4300	6503	SO:0001583	missense	8439				ceramide metabolic process	cytoplasm|soluble fraction	protein binding|receptor signaling protein activity	g.chr8:59511849C>G	X96586	CCDS6173.1, CCDS47864.1	8q12-q13	2013-01-10			ENSG00000035681	ENSG00000035681		"WD repeat domain containing"	8017	protein-coding gene	gene with protein product		603043				8808629, 10640829	Standard	NM_003580		Approved	FAN	uc011lee.2	Q92636	OTTHUMG00000164352	ENST00000038176.3:c.1527G>C	8.37:g.59511849C>G	ENSP00000038176:p.Trp509Cys					NSMAF_ENST00000427130.2_Missense_Mutation_p.W540C	p.W509C	NM_003580.3	NP_003571.2	Q92636	FAN_HUMAN			19	1739	-		all_lung(136;0.174)|Lung NSC(129;0.2)	509			BEACH.		B4DFB0|E9PCH0|Q8IW26	Missense_Mutation	SNP	ENST00000038176.3	37	c.1527G>C	CCDS6173.1	.	.	.	.	.	.	.	.	.	.	C	25.0	4.589457	0.86851	.	.	ENSG00000035681	ENST00000038176;ENST00000427130	D;D	0.92249	-3.0;-3.0	6.17	6.17	0.99709	BEACH domain (4);	0.000000	0.85682	D	0.000000	D	0.98216	0.9410	H	0.99238	4.48	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.98623	1.0668	9	.	.	.	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	540;509	Q92636-2;Q92636	.;FAN_HUMAN	C	509;540	ENSP00000038176:W509C;ENSP00000411012:W540C	.	W	-	3	0	NSMAF	59674403	1.000000	0.71417	1.000000	0.80357	0.920000	0.55202	7.818000	0.86416	2.941000	0.99782	0.655000	0.94253	TGG		0.373	NSMAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378384.1	NM_003580		4	204	0	0	0	1	0	4	204					G	59511849	C	G	59511849	3	3	338	1	0	0	0	0	1	0	0	0	10674	856	30	5	1278	5	NSMAF	8	59511849	Missense_Mutation	SNP	C	TCGA-KK-A8IA-01A-11D-A364-08	46911081	59511849	86852173	26	17125											
FRMPD2	143162	broad.mit.edu	37	chr10	49430493	49430493	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggtgccttgtcaggctgtGcctggaaaagaagtagcaat	10	10	13	8	0	1	1	1	0	0	1	1	2	1	2	2	3	3	3	2	3	5	2	rs144515014		TCGA-KK-A8IA-01A-11D-A364-08	TCGA-KK-A8IA-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4302b78b-6ed4-42e0-b730-520da1966483	48663fd9-664b-4ba1-a992-df8b0bc460e8	g.chr10:49430493G>T	ENST00000374201.3	-	12	1620	c.1318C>A	c.(1318-1320)Cac>Aac	p.H440N	FRMPD2_ENST00000305531.3_Splice_Site_p.H416N|FRMPD2_ENST00000407470.4_Splice_Site_p.H409N	NM_001018071.3|NM_001042512.2	NP_001018081|NP_001035977.2	Q68DX3	FRPD2_HUMAN	FERM and PDZ domain containing 2	440	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				tight junction assembly (GO:0070830)	basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|tight junction (GO:0005923)	1-phosphatidylinositol binding (GO:0005545)			NS(2)|autonomic_ganglia(2)|breast(5)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(15)|lung(24)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	66				Kidney(211;0.201)		GTCAGGCTGTGCCTGGAAAAG	0.498													G|||	1	0.000199681	0	0	5008	,	,		20279	0		0.001	False		,,,				2504	0					ENST00000374201.3																			0				NS(2)|autonomic_ganglia(2)|breast(5)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(15)|lung(24)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	66						c.e12-1		FERM and PDZ domain containing 2		G	ASN/HIS	0,4406		0,0,2203	75	65	69		1318	3.4	1	10	dbSNP_134	69	2,8598	2.2+/-6.3	0,2,4298	yes	missense-near-splice	FRMPD2	NM_001018071.3	68	0,2,6501	TT,TG,GG		0.0233,0.0,0.0154	benign	440/1310	49430493	2,13004	2203	4300	6503	SO:0001630	splice_region_variant	143162				tight junction assembly	basolateral plasma membrane|cytoplasm|cytoskeleton|tight junction	1-phosphatidylinositol binding|protein binding	g.chr10:49430493G>T	AK123038	CCDS31195.1	10q11	2010-10-13			ENSG00000170324	ENSG00000170324			28572	protein-coding gene	gene with protein product		613323	"PDZ domain containing 5C"	PDZD5C, PDZK5C			Standard	NM_001018071		Approved	MGC35285	uc001jdv.3	Q68DX3	OTTHUMG00000018171	ENST00000374201.3:c.1317-1C>A	10.37:g.49430493G>T						FRMPD2_ENST00000305531.3_Splice_Site_p.H416_splice|FRMPD2_ENST00000407470.4_Splice_Site_p.H409_splice	p.H440_splice	NM_001018071.3	NP_001018081.3	Q68DX3	FRPD2_HUMAN		Kidney(211;0.201)	12	1620	-			440			FERM.		B7WNW0|B7ZML5|Q2VY07|Q6GMQ9|Q6ZN38|Q6ZWI2|Q8N5T9	Splice_Site	SNP	ENST00000374201.3	37	c.1316_splice	CCDS31195.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	14.86	2.660246	0.47572	0.0	2.33E-4	ENSG00000170324	ENST00000374201;ENST00000305531;ENST00000407470	T;T;T	0.29142	1.58;1.58;1.58	5.29	3.4	0.38934	Band 4.1 domain (1);FERM central domain (2);FERM domain (1);FERM/acyl-CoA-binding protein, 3-helical bundle (1);	.	.	.	.	T	0.27866	0.0686	L	0.48877	1.53	0.27883	N	0.939625	P;B;P	0.41848	0.763;0.368;0.763	B;B;B	0.39840	0.311;0.297;0.311	T	0.05971	-1.0853	9	0.41790	T	0.15	.	10.2564	0.43399	0.0:0.1478:0.6987:0.1535	.	416;440;409	Q68DX3-2;Q68DX3;F8WCT2	.;FRPD2_HUMAN;.	N	440;416;409	ENSP00000363317:H440N;ENSP00000307079:H416N;ENSP00000384339:H409N	ENSP00000307079:H416N	H	-	1	0	FRMPD2	49100499	1.000000	0.71417	0.978000	0.43139	0.802000	0.45316	5.725000	0.68507	0.592000	0.29728	0.555000	0.69702	CAC		0.498	FRMPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047923.3	NM_152428	Missense_Mutation	3	52	1	0	0.115264	1	0.115264	3	52					T	49430493	G	T	49430493	5	4	338	1	0	0	0	0	0	0	1	0	6058	1333	46	5	2683	5	FRMPD2	10	49430493	Splice_Site	SNP	G	TCGA-KK-A8IA-01A-11D-A364-08		49430493	86104254	27	17126											
MYST4	23522	broad.mit.edu	37	chr10	76784946	76784949	+	Frame_Shift_Del	DEL	ACAA	ACAA	-																															catcagcctgggaagaaaagAcaaacagaggaagaggaagg																										TCGA-KK-A8IA-01A-11D-A364-08	TCGA-KK-A8IA-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4302b78b-6ed4-42e0-b730-520da1966483	48663fd9-664b-4ba1-a992-df8b0bc460e8	g.chr10:76784946_76784949delACAA	ENST00000287239.4	+	17	4092_4095	c.3603_3606delACAA	c.(3601-3606)agacaafs	p.RQ1201fs	KAT6B_ENST00000372711.1_Frame_Shift_Del_p.RQ1018fs|KAT6B_ENST00000372724.1_Frame_Shift_Del_p.RQ909fs|KAT6B_ENST00000372714.1_Frame_Shift_Del_p.RQ909fs|KAT6B_ENST00000372725.1_Frame_Shift_Del_p.RQ909fs|KAT6B_ENST00000490365.1_3'UTR|RP11-77G23.5_ENST00000436608.1_RNA|RP11-77G23.2_ENST00000413431.1_RNA	NM_001256468.1|NM_012330.3	NP_001243397.1|NP_036462.2	Q8WYB5	KAT6B_HUMAN	K(lysine) acetyltransferase 6B	1201					chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone H3 acetylation (GO:0043966)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	acetyltransferase activity (GO:0016407)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)										GGAAGAAAAGACAAACAGAGGAAG	0.451																																						ENST00000287239.4																			0											c.(3601-3606)agfs		K(lysine) acetyltransferase 6B																																				SO:0001589	frameshift_variant	23522				histone H3 acetylation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription factor binding|zinc ion binding	g.chr10:76784946_76784949delACAA	AF113514	CCDS7345.1, CCDS58084.1, CCDS58085.1	10q22.2	2013-01-28	2011-07-21	2011-07-21	ENSG00000156650	ENSG00000156650		"Chromatin-modifying enzymes / K-acetyltransferases", "Zinc fingers, C2HC-type containing", "Zinc fingers, PHD-type"	17582	protein-coding gene	gene with protein product	"MOZ-related factor"	605880	"MYST histone acetyltransferase (monocytic leukemia) 4"	MYST4		9205841, 10497217	Standard	NM_012330		Approved	querkopf, qkf, Morf, MOZ2, ZC2HC6B	uc001jwn.2	Q8WYB5	OTTHUMG00000018509	ENST00000287239.4:c.3603_3606delACAA	10.37:g.76784946_76784949delACAA	ENSP00000287239:p.Arg1201fs					KAT6B_ENST00000372714.1_Frame_Shift_Del_p.RQ909fs|KAT6B_ENST00000372724.1_Frame_Shift_Del_p.RQ909fs|KAT6B_ENST00000372725.1_Frame_Shift_Del_p.RQ909fs|KAT6B_ENST00000372711.1_Frame_Shift_Del_p.RQ1018fs|KAT6B_ENST00000490365.1_3'UTR	p.RQ1201fs	NM_001256468.1|NM_012330.3	NP_001243397.1|NP_036462.2	Q8WYB5	MYST4_HUMAN			17	4092_4095	+			1201					O15087|Q86Y05|Q8WU81|Q9UKW2|Q9UKW3|Q9UKX0	Frame_Shift_Del	DEL	ENST00000287239.4	37	c.3603_3606delACAA	CCDS7345.1																																																																																				0.451	KAT6B-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048771.1	NM_012330		14	23						14	23	---	---	---	---	-	76784949	ACAA	-	76784946	7	5	338	1	0	1	0	1	0	0	0	0	10105	272	10	0	3661	0	MYST4	10	76784946	Frame_Shift_Del	DEL	ACAA	TCGA-KK-A8IA-01A-11D-A364-08	27354453	76784946	58749801	28	17127											
OR5P3	120066	broad.mit.edu	37	chr11	7846597	7846597	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agtttcatcaagaaaatattTttattctaagctctctcttc	12	18	3	8	0	5	1	2	0	3	1	7	1	5	1	0	0	1	2	0	0	6	8			TCGA-KK-A8IA-01A-11D-A364-08	TCGA-KK-A8IA-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4302b78b-6ed4-42e0-b730-520da1966483	48663fd9-664b-4ba1-a992-df8b0bc460e8	g.chr11:7846597T>C	ENST00000328375.1	-	1	922	c.923A>G	c.(922-924)aAa>aGa	p.K308R	RP11-35J10.5_ENST00000527565.1_lincRNA	NM_153445.1	NP_703146.1	Q8WZ94	OR5P3_HUMAN	olfactory receptor, family 5, subfamily P, member 3	308						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			autonomic_ganglia(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(2)|upper_aerodigestive_tract(1)	15				Epithelial(150;8.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		AGAAAATATTTTTATTCTAAG	0.348																																						ENST00000328375.1																			0				autonomic_ganglia(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(2)|upper_aerodigestive_tract(1)	15						c.(922-924)aAa>aGa		olfactory receptor, family 5, subfamily P, member 3							24	26	25					11																	7846597		2200	4296	6496	SO:0001583	missense	120066				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:7846597T>C	AF158377	CCDS7783.1	11p15.4	2012-08-09			ENSG00000182334	ENSG00000182334		"GPCR / Class A : Olfactory receptors"	14784	protein-coding gene	gene with protein product							Standard	NM_153445		Approved	JCG1	uc010rbg.2	Q8WZ94	OTTHUMG00000165669	ENST00000328375.1:c.923A>G	11.37:g.7846597T>C	ENSP00000332068:p.Lys308Arg					RP11-35J10.5_ENST00000527565.1_lincRNA	p.K308R	NM_153445.1	NP_703146.1	Q8WZ94	OR5P3_HUMAN		Epithelial(150;8.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)	1	922	-			308					Q6IFE1|Q8NGM2	Missense_Mutation	SNP	ENST00000328375.1	37	c.923A>G	CCDS7783.1	.	.	.	.	.	.	.	.	.	.	T	6.281	0.419929	0.11928	.	.	ENSG00000182334	ENST00000328375	T	0.37411	1.2	4.53	0.923	0.19413	.	0.619681	0.12957	U	0.425295	T	0.19046	0.0457	N	0.16708	0.43	0.09310	N	1	B	0.11235	0.004	B	0.10450	0.005	T	0.18713	-1.0328	10	0.36615	T	0.2	0.6757	4.3977	0.11370	0.0:0.1953:0.3727:0.432	.	308	Q8WZ94	OR5P3_HUMAN	R	308	ENSP00000332068:K308R	ENSP00000332068:K308R	K	-	2	0	OR5P3	7803173	0.000000	0.05858	0.001000	0.08648	0.095000	0.18619	0.073000	0.14640	-0.004000	0.14419	0.528000	0.53228	AAA		0.348	OR5P3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385697.1	NM_153445		3	50	0	0	0	1	0	3	50					C	7846597	T	C	7846597	3	2	338	1	0	0	0	0	1	0	0	0	11179	1841	64	4	15	4	OR5P3	11	7846597	Missense_Mutation	SNP	T	TCGA-KK-A8IA-01A-11D-A364-08		7846597	127159919	29	17128											
MS4A2	2206	broad.mit.edu	37	chr11	59860884	59860884	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tattatcaggtgagaggaagCctgggagcaaacactgccag	13	7	13	8	0	1	1	1	1	0	1	1	4	1	3	2	3	4	1	2	3	4	2			TCGA-KK-A8IA-01A-11D-A364-08	TCGA-KK-A8IA-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4302b78b-6ed4-42e0-b730-520da1966483	48663fd9-664b-4ba1-a992-df8b0bc460e8	g.chr11:59860884C>G	ENST00000278888.3	+	5	492	c.390C>G	c.(388-390)agC>agG	p.S130R		NM_000139.4	NP_000130.1	Q01362	FCERB_HUMAN	membrane-spanning 4-domains, subfamily A, member 2	130					activation of phospholipase C activity (GO:0007202)|cytokine secretion (GO:0050663)|Fc-epsilon receptor signaling pathway (GO:0038095)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of mast cell degranulation (GO:0043306)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)	endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|Fc-epsilon receptor I complex (GO:0032998)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)				endometrium(1)|large_intestine(4)|lung(9)|ovary(1)|upper_aerodigestive_tract(2)	17		all_epithelial(135;0.245)			Omalizumab(DB00043)	TGAGAGGAAGCCTGGGAGCAA	0.488																																						ENST00000278888.3																			0				endometrium(1)|large_intestine(4)|lung(9)|ovary(1)|upper_aerodigestive_tract(2)	17						c.(388-390)agC>agG		membrane-spanning 4-domains, subfamily A, member 2	Omalizumab(DB00043)						90	84	86					11																	59860884		2201	4295	6496	SO:0001583	missense	2206				cell proliferation|humoral immune response	integral to plasma membrane	calcium channel activity	g.chr11:59860884C>G	M89796	CCDS7980.1, CCDS73292.1	11q12-q13	2012-02-28	2012-02-28		ENSG00000149534	ENSG00000149534			7316	protein-coding gene	gene with protein product	"Fc fragment of IgE, high affinity I, receptor for; beta polypeptide"	147138	"IgE responsiveness (atopic)", "membrane-spanning 4-domains, subfamily A, member 2 (Fc fragment of IgE, high affinity I, receptor for; beta polypeptide)"	FCER1B, IGER, APY		1386024	Standard	NM_000139		Approved	MS4A1	uc001nop.3	Q01362	OTTHUMG00000167239	ENST00000278888.3:c.390C>G	11.37:g.59860884C>G	ENSP00000278888:p.Ser130Arg						p.S130R	NM_000139.4	NP_000130.1	Q01362	FCERB_HUMAN			5	492	+		all_epithelial(135;0.245)	130					Q54A81	Missense_Mutation	SNP	ENST00000278888.3	37	c.390C>G	CCDS7980.1	.	.	.	.	.	.	.	.	.	.	C	13.59	2.281261	0.40394	.	.	ENSG00000149534	ENST00000278888	T	0.03124	4.04	4.21	-3.24	0.05094	.	0.583279	0.19245	N	0.119061	T	0.05135	0.0137	M	0.84846	2.72	0.20196	N	0.999924	B;B	0.09022	0.002;0.002	B;B	0.14578	0.011;0.011	T	0.33343	-0.9872	10	0.51188	T	0.08	0.0641	2.2146	0.03956	0.4228:0.3345:0.1226:0.1201	.	60;130	Q14298;Q01362	.;FCERB_HUMAN	R	130	ENSP00000278888:S130R	ENSP00000278888:S130R	S	+	3	2	MS4A2	59617460	0.004000	0.15560	0.032000	0.17829	0.733000	0.41908	-0.956000	0.03865	-0.580000	0.05944	0.650000	0.86243	AGC		0.488	MS4A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393844.1			20	59	0	0	0	1	0	20	59					G	59860884	C	G	59860884	3	3	338	1	0	0	0	0	1	0	0	0	9860	738	26	5	408	5	MS4A2	11	59860884	Missense_Mutation	SNP	C	TCGA-KK-A8IA-01A-11D-A364-08	52014287	59860884	75145632	30	17129											
CPM	1368	broad.mit.edu	37	chr12	69250317	69250317	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttctgtatagaggaatcattGggcatgaaggatttgatact	12	14	11	4	0	2	3	1	2	1	1	2	5	2	5	0	3	1	2	0	3	5	6			TCGA-KK-A8IA-01A-11D-A364-08	TCGA-KK-A8IA-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4302b78b-6ed4-42e0-b730-520da1966483	48663fd9-664b-4ba1-a992-df8b0bc460e8	g.chr12:69250317G>A	ENST00000551568.1	-	9	1292	c.1232C>T	c.(1231-1233)cCa>cTa	p.P411L	CPM_ENST00000546373.1_Missense_Mutation_p.P411L|CPM_ENST00000338356.3_Missense_Mutation_p.P411L	NM_001005502.2|NM_198320.3	NP_001005502.1|NP_938079.1	P14384	CBPM_HUMAN	carboxypeptidase M	411					anatomical structure morphogenesis (GO:0009653)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	carboxypeptidase activity (GO:0004180)|metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			large_intestine(1)|lung(6)|prostate(2)	9	all_epithelial(5;1.09e-35)|Lung NSC(4;1.47e-33)|all_lung(4;1.02e-31)|Breast(13;1.59e-06)		all cancers(2;2.69e-50)|GBM - Glioblastoma multiforme(2;7.34e-41)|BRCA - Breast invasive adenocarcinoma(5;5.38e-10)|Lung(24;4.61e-05)|LUAD - Lung adenocarcinoma(15;0.000376)|STAD - Stomach adenocarcinoma(21;0.00372)|Kidney(9;0.143)			AGGAATCATTGGGCATGAAGG	0.378																																						ENST00000551568.1																			0				large_intestine(1)|lung(6)|prostate(2)	9						c.(1231-1233)cCa>cTa		carboxypeptidase M							106	106	106					12																	69250317		2203	4300	6503	SO:0001583	missense	1368				anatomical structure morphogenesis|proteolysis	anchored to membrane|cytoplasm|nucleus|plasma membrane	metallocarboxypeptidase activity|zinc ion binding	g.chr12:69250317G>A	AF368463	CCDS8987.1	12q15	2012-02-10			ENSG00000135678	ENSG00000135678	3.4.17.12		2311	protein-coding gene	gene with protein product	"renal carboxypeptidase", "urinary carboxypeptidase B"	114860				8586455	Standard	NM_001874		Approved		uc001suq.3	P14384	OTTHUMG00000169300	ENST00000551568.1:c.1232C>T	12.37:g.69250317G>A	ENSP00000448517:p.Pro411Leu					CPM_ENST00000338356.3_Missense_Mutation_p.P411L|CPM_ENST00000546373.1_Missense_Mutation_p.P411L	p.P411L	NM_001005502.2|NM_198320.3	NP_001005502.1|NP_938079.1	P14384	CBPM_HUMAN	all cancers(2;2.69e-50)|GBM - Glioblastoma multiforme(2;7.34e-41)|BRCA - Breast invasive adenocarcinoma(5;5.38e-10)|Lung(24;4.61e-05)|LUAD - Lung adenocarcinoma(15;0.000376)|STAD - Stomach adenocarcinoma(21;0.00372)|Kidney(9;0.143)		9	1292	-	all_epithelial(5;1.09e-35)|Lung NSC(4;1.47e-33)|all_lung(4;1.02e-31)|Breast(13;1.59e-06)		411					B2R800|Q9H2K9	Missense_Mutation	SNP	ENST00000551568.1	37	c.1232C>T	CCDS8987.1	.	.	.	.	.	.	.	.	.	.	G	17.32	3.359097	0.61403	.	.	ENSG00000135678	ENST00000551568;ENST00000338356;ENST00000546373	T;T;T	0.13657	2.57;2.57;2.57	5.44	5.44	0.79542	Peptidase M14, carboxypeptidase A (1);Carboxypeptidase-like, regulatory domain (1);	0.312626	0.31554	N	0.007458	T	0.10078	0.0247	L	0.32530	0.975	0.49483	D	0.999799	B	0.33494	0.414	B	0.18263	0.021	T	0.19321	-1.0309	9	.	.	.	-8.7851	15.1398	0.72601	0.0:0.0:1.0:0.0	.	411	P14384	CBPM_HUMAN	L	411	ENSP00000448517:P411L;ENSP00000339157:P411L;ENSP00000447255:P411L	.	P	-	2	0	CPM	67536584	1.000000	0.71417	0.945000	0.38365	0.945000	0.59286	5.242000	0.65389	2.726000	0.93360	0.655000	0.94253	CCA		0.378	CPM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403355.1	NM_198320		30	38	0	0	0	1	0	30	38					A	69250317	G	A	69250317	3	1	338	1	0	0	0	0	1	0	0	0	3808	1348	47	3	103	3	CPM	12	69250317	Missense_Mutation	SNP	G	TCGA-KK-A8IA-01A-11D-A364-08		69250317	64601578	31	17130											
SRRM4	84530	broad.mit.edu	37	chr12	119583287	119583287	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacgactcaggaaatgacacGtcctcgccaccctccacgca	11	6	7	17	4	1	1	1	1	0	0	4	3	3	2	4	1	1	1	4	1	2	1	rs367777055		TCGA-KK-A8IA-01A-11D-A364-08	TCGA-KK-A8IA-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4302b78b-6ed4-42e0-b730-520da1966483	48663fd9-664b-4ba1-a992-df8b0bc460e8	g.chr12:119583287G>A	ENST00000267260.4	+	9	1261	c.873G>A	c.(871-873)acG>acA	p.T291T		NM_194286.3	NP_919262.2	A7MD48	SRRM4_HUMAN	serine/arginine repetitive matrix 4	291	Ser-rich.				cell differentiation (GO:0030154)|mRNA processing (GO:0006397)|nervous system development (GO:0007399)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)|sensory perception of sound (GO:0007605)	nucleus (GO:0005634)	mRNA binding (GO:0003729)	p.T291T(2)		breast(2)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	24						GAAATGACACGTCCTCGCCAC	0.632																																						ENST00000267260.4																			2	Substitution - coding silent(2)	p.T291T(2)	large_intestine(2)	breast(2)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	24						c.(871-873)acG>acA		serine/arginine repetitive matrix 4		G		3,4003		0,3,2000	32	37	35		873	-6.8	0.9	12		35	0,8318		0,0,4159	no	coding-synonymous	SRRM4	NM_194286.3		0,3,6159	AA,AG,GG		0.0,0.0749,0.0243		291/612	119583287	3,12321	2003	4159	6162	SO:0001819	synonymous_variant	84530				cell differentiation|mRNA processing|nervous system development|regulation of RNA splicing|RNA splicing	nucleus	mRNA binding	g.chr12:119583287G>A	AB058756	CCDS44994.1	12q24.23	2009-09-22	2009-09-21	2009-09-21	ENSG00000139767	ENSG00000139767			29389	protein-coding gene	gene with protein product	"neural-specific SR-related protein of 100 kDa"	613103	"KIAA1853"	KIAA1853		19737518	Standard	NM_194286		Approved	nSR100	uc001txa.2	A7MD48	OTTHUMG00000168928	ENST00000267260.4:c.873G>A	12.37:g.119583287G>A							p.T291T	NM_194286.3	NP_919262.2	A7MD48	SRRM4_HUMAN			9	1261	+			291			Ser-rich.		A8K5P6|B2RZH7|Q7Z5F0|Q96JH4	Silent	SNP	ENST00000267260.4	37	c.873G>A	CCDS44994.1																																																																																				0.632	SRRM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401640.2	NM_194286		4	7	0	0	0	1	0	4	7					A	119583287	G	A	119583287	2	1	338	1	0	0	0	0	0	0	0	1	15170	1132	40	1		1	SRRM4	12	119583287	Silent	SNP	G	TCGA-KK-A8IA-01A-11D-A364-08	50332970	119583287	14268608	32	17131											
POSTN	10631	broad.mit.edu	37	chr13	38138690	38138690	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttggcttgcaacttcctcacGggtgtgtctaaaattaaatt	10	15	8	8	1	2	0	1	0	1	0	3	0	3	0	1	2	2	2	1	2	5	6			TCGA-KK-A8IA-01A-11D-A364-08	TCGA-KK-A8IA-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4302b78b-6ed4-42e0-b730-520da1966483	48663fd9-664b-4ba1-a992-df8b0bc460e8	g.chr13:38138690G>A	ENST00000379747.4	-	22	2556	c.2439C>T	c.(2437-2439)ccC>ccT	p.P813P	POSTN_ENST00000379742.4_Silent_p.P756P|POSTN_ENST00000379743.4_Silent_p.P786P|POSTN_ENST00000541179.1_Silent_p.P758P|POSTN_ENST00000379749.4_Silent_p.P785P|POSTN_ENST00000541481.1_Silent_p.P726P	NM_006475.2	NP_006466.2	Q15063	POSTN_HUMAN	periostin, osteoblast specific factor	813					cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|regulation of Notch signaling pathway (GO:0008593)|skeletal system development (GO:0001501)|tissue development (GO:0009888)	proteinaceous extracellular matrix (GO:0005578)|trans-Golgi network (GO:0005802)	heparin binding (GO:0008201)			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(16)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	59		Lung NSC(96;2.09e-05)|Prostate(109;0.0513)|Breast(139;0.0538)|Lung SC(185;0.0743)		all cancers(112;2.48e-08)|Epithelial(112;2.78e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000853)|BRCA - Breast invasive adenocarcinoma(63;0.013)|GBM - Glioblastoma multiforme(144;0.0154)		ACTTCCTCACGGGTGTGTCTA	0.348																																						ENST00000379747.4																			0				cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(16)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	59						c.(2437-2439)ccC>ccT		periostin, osteoblast specific factor							149	136	140					13																	38138690		2203	4300	6503	SO:0001819	synonymous_variant	10631				cell adhesion|skeletal system development	proteinaceous extracellular matrix	heparin binding	g.chr13:38138690G>A	D13665	CCDS9364.1, CCDS45034.1, CCDS53864.1, CCDS66530.1, CCDS66531.1	13q13.3	2008-02-05			ENSG00000133110	ENSG00000133110			16953	protein-coding gene	gene with protein product		608777				8363580, 12235007	Standard	NM_006475		Approved	OSF-2, PN, periostin	uc001uwo.4	Q15063	OTTHUMG00000016751	ENST00000379747.4:c.2439C>T	13.37:g.38138690G>A						POSTN_ENST00000541481.1_Silent_p.P726P|POSTN_ENST00000541179.1_Silent_p.P758P|POSTN_ENST00000379742.4_Silent_p.P756P|POSTN_ENST00000379749.4_Silent_p.P785P|POSTN_ENST00000379743.4_Silent_p.P786P	p.P813P	NM_006475.2	NP_006466.2	Q15063	POSTN_HUMAN		all cancers(112;2.48e-08)|Epithelial(112;2.78e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000853)|BRCA - Breast invasive adenocarcinoma(63;0.013)|GBM - Glioblastoma multiforme(144;0.0154)	22	2556	-		Lung NSC(96;2.09e-05)|Prostate(109;0.0513)|Breast(139;0.0538)|Lung SC(185;0.0743)	813					B1ALD8|C0IMJ1|C0IMJ2|C0IMJ4|D2KRH7|F5H628|Q15064|Q29XZ0|Q3KPJ5|Q5VSY5|Q8IZF9	Silent	SNP	ENST00000379747.4	37	c.2439C>T	CCDS9364.1																																																																																				0.348	POSTN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000044566.2	NM_006475		4	85	0	0	0	1	0	4	85					A	38138690	G	A	38138690	2	1	338	1	0	0	0	0	0	0	0	1	12259	1103	39	2		2	POSTN	13	38138690	Silent	SNP	G	TCGA-KK-A8IA-01A-11D-A364-08		38138690	77031188	33	17132											
LTBP2	4053	broad.mit.edu	37	chr14	74995318	74995318	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gggccttgccagttcctcctCctcggctttcctcatggaca	4	12	9	16	1	1	0	1	0	0	0	6	1	5	1	6	3	1	2	6	3	0	3			TCGA-KK-A8IA-01A-11D-A364-08	TCGA-KK-A8IA-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4302b78b-6ed4-42e0-b730-520da1966483	48663fd9-664b-4ba1-a992-df8b0bc460e8	g.chr14:74995318C>T	ENST00000261978.4	-	12	2622	c.2236G>A	c.(2236-2238)Gag>Aag	p.E746K	LTBP2_ENST00000556690.1_Missense_Mutation_p.E746K	NM_000428.2	NP_000419.1	Q14767	LTBP2_HUMAN	latent transforming growth factor beta binding protein 2	746					protein secretion (GO:0009306)|protein targeting (GO:0006605)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)		AGTTCCTCCTCCTCGGCTTTC	0.672																																						ENST00000261978.4																			0				breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						c.(2236-2238)Gag>Aag		latent transforming growth factor beta binding protein 2							48	49	49					14																	74995318		2203	4299	6502	SO:0001583	missense	4053				protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|growth factor binding	g.chr14:74995318C>T		CCDS9831.1	14q24.3	2011-10-20	2001-12-04			ENSG00000119681		"Latent transforming growth factor, beta binding proteins"	6715	protein-coding gene	gene with protein product		602091	"chromosome 14 open reading frame 141"	LTBP3, C14orf141		7798248	Standard	NM_000428		Approved		uc001xqa.3	Q14767		ENST00000261978.4:c.2236G>A	14.37:g.74995318C>T	ENSP00000261978:p.Glu746Lys					LTBP2_ENST00000556690.1_Missense_Mutation_p.E746K	p.E746K	NM_000428.2	NP_000419.1	Q14767	LTBP2_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)	12	2622	-			746					Q99907|Q9NS51	Missense_Mutation	SNP	ENST00000261978.4	37	c.2236G>A	CCDS9831.1	.	.	.	.	.	.	.	.	.	.	C	27.5	4.840122	0.91117	.	.	ENSG00000119681	ENST00000261978;ENST00000556690;ENST00000556359	T;T	0.78481	-1.17;-1.18	5.27	5.27	0.74061	.	0.168368	0.27946	N	0.017206	T	0.73651	0.3614	L	0.32530	0.975	0.41548	D	0.988553	D	0.58620	0.983	P	0.52514	0.701	T	0.68577	-0.5372	10	0.06236	T	0.91	.	15.9346	0.79691	0.0:1.0:0.0:0.0	.	746	Q14767	LTBP2_HUMAN	K	746;746;6	ENSP00000261978:E746K;ENSP00000451477:E746K	ENSP00000261978:E746K	E	-	1	0	LTBP2	74065071	1.000000	0.71417	0.998000	0.56505	0.548000	0.35241	3.735000	0.55044	2.735000	0.93741	0.655000	0.94253	GAG		0.672	LTBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413595.1	NM_000428		20	15	0	0	0	1	0	20	15					T	74995318	C	T	74995318	3	4	338	1	0	0	0	0	1	0	0	0	9074	864	30	3	3329	3	LTBP2	14	74995318	Missense_Mutation	SNP	C	TCGA-KK-A8IA-01A-11D-A364-08		74995318	32354222	34	17133											
NLRC5	84166	broad.mit.edu	37	chr16	57099144	57099144	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtgcaggagccgtgggcggAcagagccagggttctctccc	6	6	17	12	2	1	1	0	0	1	1	3	3	2	3	3	5	3	2	3	5	0	1			TCGA-KK-A8IA-01A-11D-A364-08	TCGA-KK-A8IA-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4302b78b-6ed4-42e0-b730-520da1966483	48663fd9-664b-4ba1-a992-df8b0bc460e8	g.chr16:57099144A>G	ENST00000262510.6	+	33	4400	c.4175A>G	c.(4174-4176)gAc>gGc	p.D1392G	NLRC5_ENST00000539144.1_Missense_Mutation_p.D1363G|NLRC5_ENST00000436936.1_Missense_Mutation_p.D1392G|NLRC5_ENST00000308149.7_Missense_Mutation_p.D1363G	NM_032206.4	NP_115582.4	Q86WI3	NLRC5_HUMAN	NLR family, CARD domain containing 5	1392					defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of type I interferon production (GO:0032480)|negative regulation of type I interferon-mediated signaling pathway (GO:0060339)|positive regulation of interferon-gamma-mediated signaling pathway (GO:0060335)|positive regulation of MHC class I biosynthetic process (GO:0045345)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340)|regulation of kinase activity (GO:0043549)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)			NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	75		all_neural(199;0.225)				CCGTGGGCGGACAGAGCCAGG	0.602																																						ENST00000436936.1																			0				NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	75						c.(4174-4176)gAc>gGc		NLR family, CARD domain containing 5							32	33	33					16																	57099144		2198	4300	6498	SO:0001583	missense	84166				defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|regulation of kinase activity	cytosol|nucleus	ATP binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding	g.chr16:57099144A>G	AF389420	CCDS10773.1	16q13	2008-02-05			ENSG00000140853	ENSG00000140853		"Nucleotide-binding domain and leucine rich repeat containing"	29933	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 5", "NOD-like receptor C5"	613537				12615073	Standard	NM_032206		Approved	NOD27, CLR16.1, FLJ21709	uc021tiu.1	Q86WI3	OTTHUMG00000133470	ENST00000262510.6:c.4175A>G	16.37:g.57099144A>G	ENSP00000262510:p.Asp1392Gly					NLRC5_ENST00000539144.1_Missense_Mutation_p.D1363G|NLRC5_ENST00000262510.6_Missense_Mutation_p.D1392G|NLRC5_ENST00000308149.7_Missense_Mutation_p.D1363G	p.D1392G			Q86WI3	NLRC5_HUMAN			33	4400	+		all_neural(199;0.225)	1392					B5MEF1|C9JMD8|Q6P4A6|Q86VM7|Q8NF42|Q8TEE2|Q8TEJ1|Q969L7	Missense_Mutation	SNP	ENST00000262510.6	37	c.4175A>G	CCDS10773.1	.	.	.	.	.	.	.	.	.	.	A	1.274	-0.612171	0.03690	.	.	ENSG00000140853	ENST00000262510;ENST00000308149;ENST00000436936;ENST00000539144	T;T;T;T	0.70045	0.97;-0.45;0.97;-0.45	3.82	1.79	0.24919	.	.	.	.	.	T	0.39708	0.1088	N	0.05124	-0.11	0.22142	N	0.999333	B	0.02656	0.0	B	0.01281	0.0	T	0.21177	-1.0253	9	0.22109	T	0.4	.	6.0934	0.20007	0.2451:0.0:0.7549:0.0	.	1392	Q86WI3	NLRC5_HUMAN	G	1392;1363;1392;1363	ENSP00000262510:D1392G;ENSP00000308886:D1363G;ENSP00000389739:D1392G;ENSP00000441727:D1363G	ENSP00000262510:D1392G	D	+	2	0	NLRC5	55656645	0.021000	0.18746	0.832000	0.32986	0.088000	0.18126	0.039000	0.13884	0.530000	0.28619	-0.261000	0.10672	GAC		0.602	NLRC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257346.1	NM_032206		6	12	0	0	0	1	0	6	12					G	57099144	A	G	57099144	3	3	338	1	0	0	0	0	1	0	0	0	10470	275	10	4	4297	4	NLRC5	16	57099144	Missense_Mutation	SNP	A	TCGA-KK-A8IA-01A-11D-A364-08		57099144	33255609	35	17134											
ATMIN	23300	broad.mit.edu	37	chr16	81078137	81078137	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	actcaaacggacttcttactCgcagatacctctgctcagtc	10	11	6	14	2	4	1	2	0	2	1	6	2	4	2	1	1	4	2	1	1	3	3			TCGA-KK-A8IA-01A-11D-A364-08	TCGA-KK-A8IA-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4302b78b-6ed4-42e0-b730-520da1966483	48663fd9-664b-4ba1-a992-df8b0bc460e8	g.chr16:81078137C>T	ENST00000299575.4	+	4	2058	c.2034C>T	c.(2032-2034)ctC>ctT	p.L678L	ATMIN_ENST00000566488.1_Silent_p.L522L|ATMIN_ENST00000564241.1_Silent_p.L522L|ATMIN_ENST00000539819.1_3'UTR	NM_015251.2	NP_056066.2	O43313	ATMIN_HUMAN	ATM interactor	678					cellular response to DNA damage stimulus (GO:0006974)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	dynein binding (GO:0045502)|metal ion binding (GO:0046872)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	20						ACTTCTTACTCGCAGATACCT	0.448																																						ENST00000566488.1																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	20						c.(1564-1566)ctC>ctT		ATM interactor							94	102	99					16																	81078137		2202	4300	6502	SO:0001819	synonymous_variant	23300				response to DNA damage stimulus	nucleus	zinc ion binding	g.chr16:81078137C>T	BC002701	CCDS32494.1, CCDS73917.1	16q23.2	2013-01-07			ENSG00000166454	ENSG00000166454		"Zinc fingers, C2H2-type"	29034	protein-coding gene	gene with protein product	"ATM/ATR-Substrate Chk2-Interacting Zn++-finger protein", "ATM INteracting protein"	614693				15933716, 17525732, 19001856	Standard	XM_005255866		Approved	ASCIZ, KIAA0431, ZNF822	uc002ffz.1	O43313	OTTHUMG00000176469	ENST00000299575.4:c.2034C>T	16.37:g.81078137C>T						ATMIN_ENST00000564241.1_Silent_p.L522L|ATMIN_ENST00000539819.1_3'UTR|ATMIN_ENST00000299575.4_Silent_p.L678L	p.L522L			O43313	ATMIN_HUMAN			3	2529	+			678					A8K4H8|Q68DC9	Silent	SNP	ENST00000299575.4	37	c.1566C>T	CCDS32494.1																																																																																				0.448	ATMIN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000432140.1	NM_015251		44	22	0	0	0	1	0	44	22					T	81078137	C	T	81078137	2	4	338	1	0	0	0	0	0	0	0	1	1110	871	31	2		2	ATMIN	16	81078137	Silent	SNP	C	TCGA-KK-A8IA-01A-11D-A364-08	23978993	81078137	9276616	36	17135											
RAC3	5881	broad.mit.edu	37	chr17	79990859	79990859	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gcttctctctggtgagcccgGcctccttcgagaatgttcgt	4	13	11	13	3	2	2	0	1	2	1	6	3	3	2	3	2	1	2	3	2	1	3			TCGA-KK-A8IA-01A-11D-A364-08	TCGA-KK-A8IA-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4302b78b-6ed4-42e0-b730-520da1966483	48663fd9-664b-4ba1-a992-df8b0bc460e8	g.chr17:79990859G>A	ENST00000306897.4	+	4	400	c.262G>A	c.(262-264)Gcc>Acc	p.A88T		NM_005052.2	NP_005043.1	P60763	RAC3_HUMAN	ras-related C3 botulinum toxin substrate 3 (rho family, small GTP binding protein Rac3)	88					actin cytoskeleton organization (GO:0030036)|cell projection assembly (GO:0030031)|GTP catabolic process (GO:0006184)|intracellular signal transduction (GO:0035556)|neuromuscular process controlling balance (GO:0050885)|neuron projection development (GO:0031175)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell periphery (GO:0071944)|cytosol (GO:0005829)|endomembrane system (GO:0012505)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|growth cone (GO:0030426)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium-dependent protein binding (GO:0048306)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)			NS(1)|kidney(1)|skin(1)	3	all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0191)			GGTGAGCCCGGCCTCCTTCGA	0.622																																						ENST00000306897.4																			0				NS(1)|kidney(1)|skin(1)	3						c.(262-264)Gcc>Acc		ras-related C3 botulinum toxin substrate 3 (rho family, small GTP binding protein Rac3)							81	89	86					17																	79990859		2203	4300	6503	SO:0001583	missense	5881				actin cytoskeleton organization|cell projection assembly|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|endomembrane system|filamentous actin|growth cone|lamellipodium|neuronal cell body|plasma membrane	GTP binding|GTPase activity|protein binding	g.chr17:79990859G>A	AF008591	CCDS11798.1	17q25.3	2014-01-30				ENSG00000169750		"Endogenous ligands"	9803	protein-coding gene	gene with protein product		602050					Standard	NM_005052		Approved		uc002kdf.3	P60763		ENST00000306897.4:c.262G>A	17.37:g.79990859G>A	ENSP00000304283:p.Ala88Thr						p.A88T	NM_005052.2	NP_005043.1	P60763	RAC3_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0191)		4	400	+	all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.246)		88					O14658|Q5U0M8	Missense_Mutation	SNP	ENST00000306897.4	37	c.262G>A	CCDS11798.1	.	.	.	.	.	.	.	.	.	.	G	18.29	3.592363	0.66219	.	.	ENSG00000169750	ENST00000306897	T	0.76968	-1.06	3.72	3.72	0.42706	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	T	0.58652	0.2137	N	0.05619	-0.005	0.80722	D	1	B	0.02656	0.0	B	0.10450	0.005	T	0.54193	-0.8330	9	.	.	.	.	15.6871	0.77421	0.0:0.0:1.0:0.0	.	88	P60763	RAC3_HUMAN	T	88	ENSP00000304283:A88T	.	A	+	1	0	RAC3	77584148	1.000000	0.71417	0.988000	0.46212	0.836000	0.47400	9.381000	0.97205	1.909000	0.55274	0.561000	0.74099	GCC		0.622	RAC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442064.1			20	32	0	0	0	1	0	20	32					A	79990859	G	A	79990859	3	1	338	1	0	0	0	0	1	0	0	0	12976	1203	42	3	276	3	RAC3	17	79990859	Missense_Mutation	SNP	G	TCGA-KK-A8IA-01A-11D-A364-08		79990859	1204351	37	17136											
AFG3L2	10939	broad.mit.edu	37	chr18	12337420	12337420	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aataagtattcgtacttcatCatctatcaatcttgcagtgg	12	15	6	8	1	5	0	3	0	2	0	6	0	5	0	0	1	2	3	0	1	6	7			TCGA-KK-A8IA-01A-11D-A364-08	TCGA-KK-A8IA-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4302b78b-6ed4-42e0-b730-520da1966483	48663fd9-664b-4ba1-a992-df8b0bc460e8	g.chr18:12337420C>T	ENST00000269143.3	-	16	2326	c.2095G>A	c.(2095-2097)Gat>Aat	p.D699N		NM_006796.2	NP_006787.2	Q9Y4W6	AFG32_HUMAN	AFG3-like AAA ATPase 2	699					axonogenesis (GO:0007409)|cell death (GO:0008219)|cristae formation (GO:0042407)|mitochondrial fusion (GO:0008053)|mitochondrial protein processing (GO:0034982)|muscle fiber development (GO:0048747)|myelination (GO:0042552)|nerve development (GO:0021675)|neuromuscular junction development (GO:0007528)|regulation of multicellular organism growth (GO:0040014)|righting reflex (GO:0060013)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|metalloendopeptidase activity (GO:0004222)|unfolded protein binding (GO:0051082)|zinc ion binding (GO:0008270)			NS(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(12)|prostate(3)|skin(1)|stomach(3)|urinary_tract(1)	27					Adenosine triphosphate(DB00171)	CGTACTTCATCATCTATCAAT	0.428																																						ENST00000269143.3																			0				NS(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(12)|prostate(3)|skin(1)|stomach(3)|urinary_tract(1)	27						c.(2095-2097)Gat>Aat		AFG3-like AAA ATPase 2	Adenosine triphosphate(DB00171)						126	119	121					18																	12337420		2203	4300	6503	SO:0001583	missense	10939				cell death|protein catabolic process|proteolysis	integral to membrane	ATP binding|metalloendopeptidase activity|nucleoside-triphosphatase activity|unfolded protein binding|zinc ion binding	g.chr18:12337420C>T	Y18314	CCDS11859.1	18p11.21	2014-09-17	2013-10-17		ENSG00000141385	ENSG00000141385		"ATPases / AAA-type"	315	protein-coding gene	gene with protein product		604581	"AFG3 (ATPase family gene 3, yeast)-like 2", "spinocerebellar ataxia 28", "AFG3 ATPase family gene 3-like 2 (yeast)", "AFG3 ATPase family gene 3-like 2 (S. cerevisiae)", "AFG3 ATPase family member 3-like 2 (S. cerevisiae)"	SCA28		10395799, 18769991	Standard	NM_006796		Approved	SPAX5	uc002kqz.2	Q9Y4W6	OTTHUMG00000131695	ENST00000269143.3:c.2095G>A	18.37:g.12337420C>T	ENSP00000269143:p.Asp699Asn						p.D699N	NM_006796.2	NP_006787.2	Q9Y4W6	AFG32_HUMAN			16	2326	-			699					Q6P1L0	Missense_Mutation	SNP	ENST00000269143.3	37	c.2095G>A	CCDS11859.1	.	.	.	.	.	.	.	.	.	.	C	15.15	2.747733	0.49257	.	.	ENSG00000141385	ENST00000269143;ENST00000537174	D	0.82619	-1.63	5.62	5.62	0.85841	Peptidase M41 (1);Peptidase M41, FtsH (2);	0.538353	0.22369	N	0.060975	T	0.74076	0.3669	N	0.16708	0.43	0.42086	D	0.991275	B	0.06786	0.001	B	0.15870	0.014	T	0.66701	-0.5857	10	0.26408	T	0.33	.	19.6586	0.95855	0.0:1.0:0.0:0.0	.	699	Q9Y4W6	AFG32_HUMAN	N	699;714	ENSP00000269143:D699N	ENSP00000269143:D699N	D	-	1	0	AFG3L2	12327420	0.973000	0.33851	0.998000	0.56505	0.955000	0.61496	2.331000	0.43894	2.656000	0.90262	0.655000	0.94253	GAT		0.428	AFG3L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254603.2	NM_006796		9	46	0	0	0	1	0	9	46					T	12337420	C	T	12337420	3	4	338	1	0	0	0	0	1	0	0	0	360	826	29	3	306	3	AFG3L2	18	12337420	Missense_Mutation	SNP	C	TCGA-KK-A8IA-01A-11D-A364-08		12337420	65739828	38	17137											
ATP9B	374868	broad.mit.edu	37	chr18	76873307	76873307	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	taatatcctgctcacagtttGtaccagcattgaaaataggc	13	12	7	9	0	1	1	1	1	0	0	2	1	2	1	2	1	3	4	2	1	6	6			TCGA-KK-A8IA-01A-11D-A364-08	TCGA-KK-A8IA-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4302b78b-6ed4-42e0-b730-520da1966483	48663fd9-664b-4ba1-a992-df8b0bc460e8	g.chr18:76873307G>C	ENST00000426216.2	+	4	528	c.511G>C	c.(511-513)Gta>Cta	p.V171L	ATP9B_ENST00000586722.1_Missense_Mutation_p.V171L|ATP9B_ENST00000307671.7_Missense_Mutation_p.V171L|ATP9B_ENST00000458297.2_Missense_Mutation_p.V119L|ATP9B_ENST00000591464.1_Intron	NM_198531.3	NP_940933.3	O43861	ATP9B_HUMAN	ATPase, class II, type 9B	171					establishment of protein localization to Golgi (GO:0072600)|phospholipid translocation (GO:0045332)	integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(3)|prostate(1)|skin(2)|stomach(1)	38		Esophageal squamous(42;0.018)|Melanoma(33;0.0964)|Prostate(75;0.171)		OV - Ovarian serous cystadenocarcinoma(15;1.44e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0405)		CTCACAGTTTGTACCAGCATT	0.289																																						ENST00000426216.2																			0				NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(3)|prostate(1)|skin(2)|stomach(1)	38						c.(511-513)Gta>Cta		ATPase, class II, type 9B							52	52	52					18																	76873307		2203	4297	6500	SO:0001583	missense	374868				ATP biosynthetic process	integral to membrane	aminophospholipid transporter activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr18:76873307G>C	R51412	CCDS12014.1	18q23	2010-04-20	2007-09-19		ENSG00000166377	ENSG00000166377		"ATPases / P-type"	13541	protein-coding gene	gene with protein product		614446	"ATPase, Class II, type 9B"			9548971, 11015572	Standard	NM_198531		Approved	ATPIIB	uc002lmx.3	O43861	OTTHUMG00000132898	ENST00000426216.2:c.511G>C	18.37:g.76873307G>C	ENSP00000398076:p.Val171Leu					ATP9B_ENST00000586722.1_Missense_Mutation_p.V171L|ATP9B_ENST00000307671.7_Missense_Mutation_p.V171L|ATP9B_ENST00000458297.2_Missense_Mutation_p.V119L|ATP9B_ENST00000591464.1_Intron	p.V171L	NM_198531.3	NP_940933.3	O43861	ATP9B_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;1.44e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0405)	4	528	+		Esophageal squamous(42;0.018)|Melanoma(33;0.0964)|Prostate(75;0.171)	171					O60872|Q08AD8|Q08AD9	Missense_Mutation	SNP	ENST00000426216.2	37	c.511G>C	CCDS12014.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.010320	0.75046	.	.	ENSG00000166377	ENST00000542323;ENST00000426216;ENST00000307671;ENST00000458297	T;T;T	0.69561	-0.41;-0.41;-0.41	5.86	4.99	0.66335	ATPase,  P-type, cytoplasmic transduction domain A (1);	0.108059	0.64402	D	0.000006	T	0.57902	0.2085	N	0.25789	0.76	0.80722	D	1	P;P;B	0.39903	0.568;0.694;0.198	B;B;B	0.40410	0.175;0.328;0.171	T	0.63752	-0.6566	10	0.87932	D	0	.	15.0903	0.72188	0.0679:0.0:0.9321:0.0	.	171;171;171	O43861;O43861-2;B4DJ94	ATP9B_HUMAN;.;.	L	94;171;171;119	ENSP00000398076:V171L;ENSP00000304500:V171L;ENSP00000442794:V119L	ENSP00000304500:V171L	V	+	1	0	ATP9B	74974295	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	6.223000	0.72257	1.489000	0.48450	0.591000	0.81541	GTA		0.289	ATP9B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256402.3	NM_198531		3	54	0	0	0	1	0	3	54					C	76873307	G	C	76873307	3	2	338	1	0	0	0	0	1	0	0	0	1199	1377	48	5	525	5	ATP9B	18	76873307	Missense_Mutation	SNP	G	TCGA-KK-A8IA-01A-11D-A364-08	64535887	76873307	1203941	39	17138											
MUC16	94025	broad.mit.edu	37	chr19	9083587	9083587	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tagaaagtgccactgtgatcGaaccttcataggttgtattc	11	13	9	8	1	1	2	1	1	0	1	3	3	1	2	2	1	2	2	2	1	5	6	rs371402846		TCGA-KK-A8IA-01A-11D-A364-08	TCGA-KK-A8IA-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4302b78b-6ed4-42e0-b730-520da1966483	48663fd9-664b-4ba1-a992-df8b0bc460e8	g.chr19:9083587G>A	ENST00000397910.4	-	1	8431	c.8228C>T	c.(8227-8229)tCg>tTg	p.S2743L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	2743	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)		p.S2743L(2)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CACTGTGATCGAACCTTCATA	0.468																																						ENST00000397910.4																			2	Substitution - Missense(2)	p.S2743L(2)	large_intestine(2)	NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(8227-8229)tCg>tTg		mucin 16, cell surface associated							125	118	120					19																	9083587		1919	4115	6034	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9083587G>A	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.8228C>T	19.37:g.9083587G>A	ENSP00000381008:p.Ser2743Leu						p.S2743L	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			1	8431	-			2743			Ser-rich.|Thr-rich.		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.8228C>T	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	g	0.595	-0.831363	0.02713	.	.	ENSG00000181143	ENST00000397910	T	0.02656	4.21	0.235	-0.47	0.12131	.	.	.	.	.	T	0.01592	0.0051	N	0.08118	0	.	.	.	B	0.02656	0.0	B	0.01281	0.0	T	0.44081	-0.9351	7	0.87932	D	0	.	.	.	.	.	2743	B5ME49	.	L	2743	ENSP00000381008:S2743L	ENSP00000381008:S2743L	S	-	2	0	MUC16	8944587	0.001000	0.12720	0.004000	0.12327	0.004000	0.04260	-1.465000	0.02357	-0.677000	0.05231	-0.671000	0.03813	TCG		0.468	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		6	73	0	0	0	1	0	6	73					A	9083587	G	A	9083587	3	1	338	1	0	0	0	0	1	0	0	0	9973	1059	37	2	35631	2	MUC16	19	9083587	Missense_Mutation	SNP	G	TCGA-KK-A8IA-01A-11D-A364-08		9083587	50045396	40	17139											
PNKP	11284	broad.mit.edu	37	chr19	50365803	50365803	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	caggggcctcaccaggcgatCggcgcaggagaagtctttct	8	7	14	12	3	3	1	1	0	2	1	4	3	3	1	2	5	0	1	2	5	1	1			TCGA-KK-A8IA-01A-11D-A364-08	TCGA-KK-A8IA-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4302b78b-6ed4-42e0-b730-520da1966483	48663fd9-664b-4ba1-a992-df8b0bc460e8	g.chr19:50365803C>G	ENST00000322344.3	-	10	1037	c.928G>C	c.(928-930)Gat>Cat	p.D310H	PNKP_ENST00000596014.1_Missense_Mutation_p.D310H|PNKP_ENST00000600910.1_Missense_Mutation_p.D310H|PNKP_ENST00000600573.1_Missense_Mutation_p.D310H|AC018766.4_ENST00000596624.1_RNA	NM_007254.3	NP_009185.2	Q96T60	PNKP_HUMAN	polynucleotide kinase 3'-phosphatase	310	Phosphatase. {ECO:0000250}.				dephosphorylation (GO:0016311)|DNA damage response, detection of DNA damage (GO:0042769)|DNA repair (GO:0006281)|DNA-dependent DNA replication (GO:0006261)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleotide phosphorylation (GO:0046939)|nucleotide-excision repair, DNA damage removal (GO:0000718)|polynucleotide 3' dephosphorylation (GO:0098506)|response to oxidative stress (GO:0006979)|response to radiation (GO:0009314)	membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity (GO:0046404)|damaged DNA binding (GO:0003684)|double-stranded DNA binding (GO:0003690)|endonuclease activity (GO:0004519)|nucleotide kinase activity (GO:0019201)|polynucleotide 3'-phosphatase activity (GO:0046403)|purine nucleotide binding (GO:0017076)			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|urinary_tract(1)	19		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		GBM - Glioblastoma multiforme(134;0.0118)|OV - Ovarian serous cystadenocarcinoma(262;0.0134)		ACCAGGCGATCGGCGCAGGAG	0.687								Other BER factors																														ENST00000322344.3																			0				breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|urinary_tract(1)	19						c.(928-930)Gat>Cat	Other BER factors	polynucleotide kinase 3'-phosphatase							16	20	18					19																	50365803		2192	4284	6476	SO:0001583	missense	11284				DNA damage response, detection of DNA damage|DNA-dependent DNA replication|nucleotide-excision repair, DNA damage removal|response to oxidative stress|response to radiation	nucleolus	ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|damaged DNA binding|double-stranded DNA binding|endonuclease activity|nucleotide kinase activity|polynucleotide 3'-phosphatase activity|protein binding	g.chr19:50365803C>G	AF126486	CCDS12783.1	19q13.3-q13.4	2008-02-05				ENSG00000039650			9154	protein-coding gene	gene with protein product		605610				10446192, 10446193	Standard	NM_007254		Approved	PNK	uc002pqj.3	Q96T60		ENST00000322344.3:c.928G>C	19.37:g.50365803C>G	ENSP00000323511:p.Asp310His					PNKP_ENST00000596014.1_Missense_Mutation_p.D310H|PNKP_ENST00000600573.1_Missense_Mutation_p.D310H|PNKP_ENST00000600910.1_Missense_Mutation_p.D310H	p.D310H	NM_007254.3	NP_009185.2	Q96T60	PNKP_HUMAN		GBM - Glioblastoma multiforme(134;0.0118)|OV - Ovarian serous cystadenocarcinoma(262;0.0134)	10	1037	-		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)	310					Q9BUL2|Q9P1V2|Q9UKU8|Q9UNF8|Q9UNI0	Missense_Mutation	SNP	ENST00000322344.3	37	c.928G>C	CCDS12783.1	.	.	.	.	.	.	.	.	.	.	C	27.7	4.852451	0.91355	.	.	ENSG00000039650	ENST00000322344	D	0.85773	-2.03	5.15	5.15	0.70609	HAD-like domain (2);Polynucleotide kinase 3 phosphatase, central region (1);	0.000000	0.85682	D	0.000000	D	0.95364	0.8495	H	0.98487	4.245	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.96835	0.9614	10	0.87932	D	0	-41.1471	14.1076	0.65101	0.0:1.0:0.0:0.0	.	271;310	Q9BUL2;Q96T60	.;PNKP_HUMAN	H	310	ENSP00000323511:D310H	ENSP00000323511:D310H	D	-	1	0	PNKP	55057615	1.000000	0.71417	0.925000	0.36789	0.855000	0.48748	6.241000	0.72369	2.395000	0.81488	0.561000	0.74099	GAT		0.687	PNKP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465830.1	NM_007254		4	5	0	0	0	1	0	4	5					G	50365803	C	G	50365803	3	3	338	1	0	0	0	0	1	0	0	0	12147	884	31	5	669	5	PNKP	19	50365803	Missense_Mutation	SNP	C	TCGA-KK-A8IA-01A-11D-A364-08	41282216	50365803	8763180	41	17140											
SHANK1	50944	broad.mit.edu	37	chr19	51165266	51165266	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agcccggtcgatgttcatgcGgtggcccaccctggtcacac	6	8	12	15	3	2	0	2	0	0	0	3	1	2	0	3	4	2	1	3	4	0	1			TCGA-KK-A8IA-01A-11D-A364-08	TCGA-KK-A8IA-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4302b78b-6ed4-42e0-b730-520da1966483	48663fd9-664b-4ba1-a992-df8b0bc460e8	g.chr19:51165266G>A	ENST00000293441.1	-	23	6460	c.6442C>T	c.(6442-6444)Cgc>Tgc	p.R2148C	SHANK1_ENST00000391814.1_Missense_Mutation_p.R2156C|SHANK1_ENST00000391813.1_Missense_Mutation_p.R1535C|SYT3_ENST00000544769.1_Intron|SHANK1_ENST00000483981.2_5'Flank|SHANK1_ENST00000359082.3_Missense_Mutation_p.R2139C	NM_016148.2	NP_057232.2	Q9Y566	SHAN1_HUMAN	SH3 and multiple ankyrin repeat domains 1	2148	SAM. {ECO:0000255|PROSITE- ProRule:PRU00184}.				adult behavior (GO:0030534)|associative learning (GO:0008306)|cytoskeletal anchoring at plasma membrane (GO:0007016)|dendritic spine morphogenesis (GO:0060997)|determination of affect (GO:0050894)|habituation (GO:0046959)|long-term memory (GO:0007616)|negative regulation of actin filament bundle assembly (GO:0032232)|neuromuscular process controlling balance (GO:0050885)|olfactory behavior (GO:0042048)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|protein complex assembly (GO:0006461)|protein localization to synapse (GO:0035418)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|righting reflex (GO:0060013)|social behavior (GO:0035176)|synapse maturation (GO:0060074)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|excitatory synapse (GO:0060076)|intracellular (GO:0005622)|membrane (GO:0016020)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	ankyrin repeat binding (GO:0071532)|GKAP/Homer scaffold activity (GO:0030160)|identical protein binding (GO:0042802)|ionotropic glutamate receptor binding (GO:0035255)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|scaffold protein binding (GO:0097110)|SH3 domain binding (GO:0017124)|somatostatin receptor binding (GO:0031877)			breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		ATGTTCATGCGGTGGCCCACC	0.622																																						ENST00000293441.1																			0				breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64						c.(6442-6444)Cgc>Tgc		SH3 and multiple ankyrin repeat domains 1							71	64	67					19																	51165266		2203	4300	6503	SO:0001583	missense	50944				cytoskeletal anchoring at plasma membrane	cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane	ionotropic glutamate receptor binding	g.chr19:51165266G>A	AF163302	CCDS12799.1	19q13.3	2013-01-10			ENSG00000161681	ENSG00000161681		"Sterile alpha motif (SAM) domain containing", "Ankyrin repeat domain containing"	15474	protein-coding gene	gene with protein product	"somatostatin receptor-interacting protein"	604999				10551867	Standard	NM_016148		Approved	SSTRIP, SPANK-1, synamon	uc002psx.1	Q9Y566	OTTHUMG00000137380	ENST00000293441.1:c.6442C>T	19.37:g.51165266G>A	ENSP00000293441:p.Arg2148Cys					SYT3_ENST00000544769.1_Intron|SHANK1_ENST00000359082.3_Missense_Mutation_p.R2139C|SHANK1_ENST00000391813.1_Missense_Mutation_p.R1535C|SHANK1_ENST00000391814.1_Missense_Mutation_p.R2156C	p.R2148C	NM_016148.2	NP_057232.2	Q9Y566	SHAN1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)	23	6460	-		all_neural(266;0.057)	2148			SAM.		A8MXP5|B7WNY6|Q9NYW9	Missense_Mutation	SNP	ENST00000293441.1	37	c.6442C>T	CCDS12799.1	.	.	.	.	.	.	.	.	.	.	G	9.043	0.990142	0.18966	.	.	ENSG00000161681	ENST00000293441;ENST00000391813;ENST00000359082;ENST00000391814	T;T;T;T	0.58210	0.35;0.35;0.35;0.35	3.51	1.24	0.21308	Sterile alpha motif domain (2);Sterile alpha motif/pointed domain (2);Sterile alpha motif, type 1 (1);	0.000000	0.64402	U	0.000005	T	0.75317	0.3833	M	0.93898	3.47	0.58432	D	0.999993	D;D	0.89917	1.0;1.0	D;D	0.74674	0.984;0.973	T	0.78079	-0.2344	10	0.87932	D	0	.	10.3463	0.43907	0.0:0.0:0.4879:0.5121	.	2148;1535	Q9Y566;Q9Y566-2	SHAN1_HUMAN;.	C	2148;1535;2139;2156	ENSP00000293441:R2148C;ENSP00000375689:R1535C;ENSP00000351984:R2139C;ENSP00000375690:R2156C	ENSP00000293441:R2148C	R	-	1	0	SHANK1	55857078	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	3.634000	0.54302	0.280000	0.22209	0.443000	0.29094	CGC		0.622	SHANK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268071.1	NM_016148		18	41	0	0	0	1	0	18	41					A	51165266	G	A	51165266	3	1	338	1	0	0	0	0	1	0	0	0	14264	1116	39	2	47	2	SHANK1	19	51165266	Missense_Mutation	SNP	G	TCGA-KK-A8IA-01A-11D-A364-08	799463	51165266	7963717	42	17141											
VPS16	64601	broad.mit.edu	37	chr20	2843245	2843245	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaagagagccagaaggcggaCgagtacctgcgggagatcca	14	3	15	9	3	0	3	0	0	0	3	1	7	1	4	3	3	3	1	3	3	3	1			TCGA-KK-A8IA-01A-11D-A364-08	TCGA-KK-A8IA-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4302b78b-6ed4-42e0-b730-520da1966483	48663fd9-664b-4ba1-a992-df8b0bc460e8	g.chr20:2843245C>T	ENST00000380445.3	+	12	1164	c.1092C>T	c.(1090-1092)gaC>gaT	p.D364D	PTPRA_ENST00000380393.3_5'Flank|VPS16_ENST00000380443.3_Silent_p.D18D|VPS16_ENST00000380469.3_Intron|VPS16_ENST00000481812.2_Intron	NM_022575.2	NP_072097.2	Q9H269	VPS16_HUMAN	vacuolar protein sorting 16 homolog (S. cerevisiae)	364					intracellular protein transport (GO:0006886)|viral entry into host cell (GO:0046718)	actin filament (GO:0005884)|axon (GO:0030424)|early endosome (GO:0005769)|HOPS complex (GO:0030897)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|recycling endosome (GO:0055037)				NS(3)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	37						AGAAGGCGGACGAGTACCTGC	0.602																																						ENST00000380445.3																			0				NS(3)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	37						c.(1090-1092)gaC>gaT		vacuolar protein sorting 16 homolog (S. cerevisiae)							44	48	47					20																	2843245		2203	4298	6501	SO:0001819	synonymous_variant	64601				intracellular protein transport	early endosome|HOPS complex|late endosome membrane|lysosomal membrane|recycling endosome		g.chr20:2843245C>T	AF308801	CCDS13036.1, CCDS13037.1	20p13	2009-07-07	2009-07-07	2009-07-07	ENSG00000215305	ENSG00000215305			14584	protein-coding gene	gene with protein product		608550					Standard	NM_022575		Approved		uc002whe.3	Q9H269	OTTHUMG00000031714	ENST00000380445.3:c.1092C>T	20.37:g.2843245C>T						VPS16_ENST00000380443.3_Silent_p.D18D|VPS16_ENST00000380469.3_Intron|VPS16_ENST00000481812.2_Intron	p.D364D	NM_022575.2	NP_072097.2	Q9H269	VPS16_HUMAN			12	1164	+			364					Q5JUB1|Q8WU31|Q96EE7|Q96N92|Q9H1Q4|Q9H1Q5	Silent	SNP	ENST00000380445.3	37	c.1092C>T	CCDS13036.1																																																																																				0.602	VPS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077658.2	NM_022575		16	14	0	0	0	1	0	16	14					T	2843245	C	T	2843245	2	4	338	1	0	0	0	0	0	0	0	1	17190	535	19	1		1	VPS16	20	2843245	Silent	SNP	C	TCGA-KK-A8IA-01A-11D-A364-08		2843245	60182275	43	17142											
MC3R	4159	broad.mit.edu	37	chr20	54824819	54824819	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tttccggagcctggaattgcGcaacacctttagggagattc	9	11	11	10	2	0	1	0	0	0	1	2	4	1	3	3	3	3	1	3	3	3	5			TCGA-KK-A8IA-01A-11D-A364-08	TCGA-KK-A8IA-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4302b78b-6ed4-42e0-b730-520da1966483	48663fd9-664b-4ba1-a992-df8b0bc460e8	g.chr20:54824819G>A	ENST00000243911.2	+	1	1032	c.920G>A	c.(919-921)cGc>cAc	p.R307H		NM_019888.3	NP_063941.3	P41968	MC3R_HUMAN	melanocortin 3 receptor	307					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|homoiothermy (GO:0042309)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cAMP biosynthetic process (GO:0030819)|regulation of blood pressure (GO:0008217)|regulation of heart rate (GO:0002027)|sodium ion homeostasis (GO:0055078)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	melanocortin receptor activity (GO:0004977)|melanocyte-stimulating hormone receptor activity (GO:0004980)|neuropeptide binding (GO:0042923)|peptide hormone binding (GO:0017046)			breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(3)|skin(1)	26			Colorectal(105;0.202)			CTGGAATTGCGCAACACCTTT	0.517																																						ENST00000243911.2																			0				breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(3)|skin(1)	26						c.(919-921)cGc>cAc		melanocortin 3 receptor							168	160	163					20																	54824819		2203	4300	6503	SO:0001583	missense	4159				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	melanocyte-stimulating hormone receptor activity|neuropeptide binding|protein binding	g.chr20:54824819G>A		CCDS13449.2	20q13.2-q13.3	2012-08-10			ENSG00000124089	ENSG00000124089		"GPCR / Class A : Melanocortin receptors"	6931	protein-coding gene	gene with protein product		155540				8463333	Standard	NM_019888		Approved	MC3	uc002xxb.2	P41968	OTTHUMG00000032785	ENST00000243911.2:c.920G>A	20.37:g.54824819G>A	ENSP00000243911:p.Arg307His						p.R307H	NM_019888.3	NP_063941.3	P41968	MC3R_HUMAN	Colorectal(105;0.202)		1	1032	+			344					Q4KN27|Q9H517	Missense_Mutation	SNP	ENST00000243911.2	37	c.920G>A	CCDS13449.2	.	.	.	.	.	.	.	.	.	.	G	17.98	3.520625	0.64747	.	.	ENSG00000124089	ENST00000243911	T	0.58358	0.34	5.09	5.09	0.68999	.	0.000000	0.64402	D	0.000014	D	0.82917	0.5141	H	0.97440	4.005	0.51767	D	0.99993	D	0.89917	1.0	D	0.83275	0.996	D	0.89536	0.3789	10	0.87932	D	0	.	18.1096	0.89530	0.0:0.0:1.0:0.0	.	344	P41968	MC3R_HUMAN	H	307	ENSP00000243911:R307H	ENSP00000243911:R307H	R	+	2	0	MC3R	54258226	1.000000	0.71417	0.990000	0.47175	0.182000	0.23217	9.731000	0.98807	2.362000	0.80069	0.555000	0.69702	CGC		0.517	MC3R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079786.2			4	139	0	0	0	1	0	4	139					A	54824819	G	A	54824819	3	1	338	1	0	0	0	0	1	0	0	0	9365	1087	38	1	922	1	MC3R	20	54824819	Missense_Mutation	SNP	G	TCGA-KK-A8IA-01A-11D-A364-08	51981574	54824819	8200701	44	17143											
ZNF831	128611	broad.mit.edu	37	chr20	57767047	57767047	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcaggcgacggcagcggagAagccctgggatgccaaggcc	10	2	17	12	3	0	1	0	0	0	1	0	4	0	2	3	5	4	2	3	5	2	0			TCGA-KK-A8IA-01A-11D-A364-08	TCGA-KK-A8IA-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4302b78b-6ed4-42e0-b730-520da1966483	48663fd9-664b-4ba1-a992-df8b0bc460e8	g.chr20:57767047A>G	ENST00000371030.2	+	1	973	c.973A>G	c.(973-975)Aag>Gag	p.K325E		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	325							metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					GGCAGCGGAGAAGCCCTGGGA	0.711																																						ENST00000371030.2																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125						c.(973-975)Aag>Gag		zinc finger protein 831							11	14	13					20																	57767047		1673	3891	5564	SO:0001583	missense	128611					intracellular	nucleic acid binding|zinc ion binding	g.chr20:57767047A>G	AL121919	CCDS42894.1	20q13.32	2008-10-20	2008-03-25	2008-03-25	ENSG00000124203	ENSG00000124203			16167	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 174"	C20orf174			Standard	NM_178457		Approved	dJ492J12.1	uc002yan.3	Q5JPB2	OTTHUMG00000032864	ENST00000371030.2:c.973A>G	20.37:g.57767047A>G	ENSP00000360069:p.Lys325Glu						p.K325E	NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN			1	973	+	all_lung(29;0.0085)		325					Q5TDR4|Q8TCP0	Missense_Mutation	SNP	ENST00000371030.2	37	c.973A>G	CCDS42894.1	.	.	.	.	.	.	.	.	.	.	A	16.45	3.127275	0.56721	.	.	ENSG00000124203	ENST00000371030	T	0.05649	3.41	5.5	5.5	0.81552	.	.	.	.	.	T	0.08403	0.0209	L	0.41236	1.265	0.32135	N	0.586282	P	0.47106	0.89	B	0.41271	0.352	T	0.03433	-1.1037	9	0.87932	D	0	-23.8156	14.7942	0.69865	1.0:0.0:0.0:0.0	.	325	Q5JPB2	ZN831_HUMAN	E	325	ENSP00000360069:K325E	ENSP00000360069:K325E	K	+	1	0	ZNF831	57200442	1.000000	0.71417	0.980000	0.43619	0.277000	0.26821	4.053000	0.57427	2.083000	0.62718	0.533000	0.62120	AAG		0.711	ZNF831-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000079916.2	NM_178457		13	24	0	0	0	1	0	13	24					G	57767047	A	G	57767047	3	3	338	1	0	0	0	0	1	0	0	0	18182	247	9	4	975	4	ZNF831	20	57767047	Missense_Mutation	SNP	A	TCGA-KK-A8IA-01A-11D-A364-08	2942228	57767047	5258473	45	17144											
MAGEA4	4103	broad.mit.edu	37	chrX	151093031	151093031	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcagggtcaatgcaagagttCgcattgcctacccatccctg	9	10	9	13	1	2	1	2	0	0	1	4	1	3	1	3	1	3	3	3	1	3	3			TCGA-KK-A8IA-01A-11D-A364-08	TCGA-KK-A8IA-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4302b78b-6ed4-42e0-b730-520da1966483	48663fd9-664b-4ba1-a992-df8b0bc460e8	g.chrX:151093031C>T	ENST00000360243.2	+	3	1162	c.895C>T	c.(895-897)Cgc>Tgc	p.R299C	MAGEA4_ENST00000370337.4_Missense_Mutation_p.R299C|MAGEA4_ENST00000276344.2_Missense_Mutation_p.R299C|MAGEA4_ENST00000370340.3_Missense_Mutation_p.R299C|MAGEA4_ENST00000393921.1_Missense_Mutation_p.R299C|MAGEA4_ENST00000370335.1_Missense_Mutation_p.R299C|MAGEA4_ENST00000393920.1_Missense_Mutation_p.R299C	NM_001011550.1	NP_001011550.1	P43358	MAGA4_HUMAN	melanoma antigen family A, 4	299	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.									breast(2)|central_nervous_system(4)|endometrium(1)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)	27	Acute lymphoblastic leukemia(192;6.56e-05)					TGCAAGAGTTCGCATTGCCTA	0.567																																						ENST00000370340.3																			0				breast(2)|central_nervous_system(4)|endometrium(1)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)	27						c.(895-897)Cgc>Tgc		melanoma antigen family A, 4							118	111	114					X																	151093031		2203	4300	6503	SO:0001583	missense	4103						protein binding	g.chrX:151093031C>T		CCDS14702.1	Xq28	2009-03-13			ENSG00000147381	ENSG00000147381			6802	protein-coding gene	gene with protein product	"melanoma-associated antigen 4", "cancer/testis antigen family 1, member 4"	300175		MAGE4		8575766	Standard	XM_005274677		Approved	MAGE4A, MAGE4B, MAGE-41, MAGE-X2, MGC21336, CT1.4	uc004ffa.3	P43358	OTTHUMG00000024174	ENST00000360243.2:c.895C>T	X.37:g.151093031C>T	ENSP00000353379:p.Arg299Cys					MAGEA4_ENST00000393920.1_Missense_Mutation_p.R299C|MAGEA4_ENST00000276344.2_Missense_Mutation_p.R299C|MAGEA4_ENST00000360243.2_Missense_Mutation_p.R299C|MAGEA4_ENST00000393921.1_Missense_Mutation_p.R299C|MAGEA4_ENST00000370337.4_Missense_Mutation_p.R299C|MAGEA4_ENST00000370335.1_Missense_Mutation_p.R299C	p.R299C			P43358	MAGA4_HUMAN			3	1162	+	Acute lymphoblastic leukemia(192;6.56e-05)		299			MAGE.		Q14798	Missense_Mutation	SNP	ENST00000360243.2	37	c.895C>T	CCDS14702.1	.	.	.	.	.	.	.	.	.	.	C	13.89	2.371334	0.42003	.	.	ENSG00000147381	ENST00000276344;ENST00000393921;ENST00000370337;ENST00000393920;ENST00000370340;ENST00000370335;ENST00000360243	T;T;T;T;T;T;T	0.01599	4.74;4.74;4.74;4.74;4.74;4.74;4.74	2.55	2.55	0.30701	.	0.240065	0.42964	D	0.000630	T	0.03390	0.0098	M	0.68317	2.08	0.09310	N	1	D	0.76494	0.999	P	0.47645	0.553	T	0.36890	-0.9729	9	.	.	.	.	7.8294	0.29334	0.0:1.0:0.0:0.0	.	299	P43358	MAGA4_HUMAN	C	299	ENSP00000276344:R299C;ENSP00000377498:R299C;ENSP00000359362:R299C;ENSP00000377497:R299C;ENSP00000359365:R299C;ENSP00000359360:R299C;ENSP00000353379:R299C	.	R	+	1	0	MAGEA4	150843687	0.001000	0.12720	0.002000	0.10522	0.017000	0.09413	0.673000	0.25203	1.554000	0.49487	0.292000	0.19580	CGC		0.567	MAGEA4-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060898.1	NM_002362		8	85	0	0	0	1	0	8	85					T	151093031	C	T	151093031	3	4	338	1	0	0	0	0	1	0	0	0	9168	884	31	2	897	2	MAGEA4	23	151093031	Missense_Mutation	SNP	C	TCGA-KK-A8IA-01A-11D-A364-08		151093031	4177529	46	17145											
SDHB	6390	broad.mit.edu	37	chr1	17355219	17355219	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cattgatgttcattgcacaaGagccacagatgcctgaaaga	14	9	9	9	0	1	5	1	2	0	3	1	5	1	5	2	0	3	2	2	0	2	3	rs121917755		TCGA-KK-A8IB-01A-11D-A364-08	TCGA-KK-A8IB-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4f0563c-2660-42eb-aa93-bbe35d095334	5c82813e-861d-4893-bc6c-9cc3c0dba6c3	g.chr1:17355219G>A	ENST00000375499.3	-	4	449	c.299C>T	c.(298-300)tCt>tTt	p.S100F		NM_003000.2	NP_002991.2	P21912	SDHB_HUMAN	succinate dehydrogenase complex, subunit B, iron sulfur (Ip)	100	2Fe-2S ferredoxin-type. {ECO:0000255|PROSITE-ProRule:PRU00465}.		S -> F (in pheochromocytoma; absence of expression in tumor cells indicating complete loss of SDHB function). {ECO:0000269|PubMed:17634472}.		aerobic respiration (GO:0009060)|cellular metabolic process (GO:0044237)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)|succinate metabolic process (GO:0006105)|tricarboxylic acid cycle (GO:0006099)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex II (GO:0005749)|mitochondrion (GO:0005739)	2 iron, 2 sulfur cluster binding (GO:0051537)|3 iron, 4 sulfur cluster binding (GO:0051538)|4 iron, 4 sulfur cluster binding (GO:0051539)|electron carrier activity (GO:0009055)|metal ion binding (GO:0046872)|succinate dehydrogenase (ubiquinone) activity (GO:0008177)|ubiquinone binding (GO:0048039)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)	10		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00054)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0049)|COAD - Colon adenocarcinoma(227;1.18e-05)|BRCA - Breast invasive adenocarcinoma(304;2.41e-05)|Kidney(64;0.000188)|KIRC - Kidney renal clear cell carcinoma(64;0.00273)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.19)	Succinic acid(DB00139)	CATTGCACAAGAGCCACAGAT	0.468			"Mis, N, F"			"paraganglioma, pheochromocytoma"			Familial Paragangliomas;Cowden syndrome;Carney-Stratakis syndrome																													ENST00000375499.3			yes	Rec		Familial paraganglioma	1	1p36.1-p35	6390	"Mis, N, F"	"succinate dehydrogenase complex, subunit B, iron sulfur (Ip)"			O		"paraganglioma, pheochromocytoma"			0				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)	10						c.(298-300)tCt>tTt		succinate dehydrogenase complex, subunit B, iron sulfur (Ip)	Succinic acid(DB00139)						219	181	194					1																	17355219		2203	4300	6503	SO:0001583	missense	6390	Familial Paragangliomas;Cowden syndrome;Carney-Stratakis syndrome	Familial Cancer Database	Hereditary Glomus Tumors, Familial Paragangliomas, Hereditary Paragangliomas, type 1-3: PGL1, PGL2, PGL3, incl. Familial Carotid Body Paraganglioma and Sensorineural Hearing Loss;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;Carney-Stratakis dyad, Paraganglioma-Gastric Stromal Sarcoma dyad	respiratory electron transport chain|transport|tricarboxylic acid cycle	mitochondrial respiratory chain complex II	2 iron, 2 sulfur cluster binding|3 iron, 4 sulfur cluster binding|4 iron, 4 sulfur cluster binding|electron carrier activity|metal ion binding|protein binding|succinate dehydrogenase (ubiquinone) activity|ubiquinone binding	g.chr1:17355219G>A	U17248	CCDS176.1	1p36.1-p35	2014-09-17			ENSG00000117118	ENSG00000117118	1.3.99.1	"Mitochondrial respiratory chain complex / Complex II"	10681	protein-coding gene	gene with protein product		185470		SDH1, SDH			Standard	NM_003000		Approved		uc001bae.3	P21912	OTTHUMG00000002289	ENST00000375499.3:c.299C>T	1.37:g.17355219G>A	ENSP00000364649:p.Ser100Phe						p.S100F	NM_003000.2	NP_002991.2	P21912	DHSB_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0049)|COAD - Colon adenocarcinoma(227;1.18e-05)|BRCA - Breast invasive adenocarcinoma(304;2.41e-05)|Kidney(64;0.000188)|KIRC - Kidney renal clear cell carcinoma(64;0.00273)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.19)	4	449	-		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00054)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)	100		S -> F (in pheochromocytoma; absence of expression in tumor cells indicating complete loss of SDHB function).	2Fe-2S ferredoxin-type.		B2R545|Q0QEY7|Q9NQ12	Missense_Mutation	SNP	ENST00000375499.3	37	c.299C>T	CCDS176.1	.	.	.	.	.	.	.	.	.	.	G	33	5.209374	0.95069	.	.	ENSG00000117118	ENST00000375499	D	0.99129	-5.46	6.17	6.17	0.99709	Beta-grasp fold, ferredoxin-type (1);Ferredoxin (2);	0.000000	0.85682	D	0.000000	D	0.99736	0.9896	H	0.99859	4.855	0.80722	A	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97084	0.9786	9	0.87932	D	0	-21.0619	19.4432	0.94831	0.0:0.0:1.0:0.0	.	100	P21912	DHSB_HUMAN	F	100	ENSP00000364649:S100F	ENSP00000364649:S100F	S	-	2	0	SDHB	17227806	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	9.045000	0.93812	2.941000	0.99782	0.655000	0.94253	TCT		0.468	SDHB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006603.1	NM_003000		8	100	0	0	0	1	0	8	100					A	17355219	G	A	17355219	3	1	339	1	0	0	0	0	1	0	0	0	13965	942	33	3	563	3	SDHB	1	17355219	Missense_Mutation	SNP	G	TCGA-KK-A8IB-01A-11D-A364-08		17355219	231895402	1	17146											
UBR4	23352	broad.mit.edu	37	chr1	19489045	19489045	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accattactctggctcagggCattcgtgacatcagccaagt	10	10	9	12	1	3	1	2	1	1	0	4	1	3	1	2	2	2	2	2	2	2	2			TCGA-KK-A8IB-01A-11D-A364-08	TCGA-KK-A8IB-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4f0563c-2660-42eb-aa93-bbe35d095334	5c82813e-861d-4893-bc6c-9cc3c0dba6c3	g.chr1:19489045C>T	ENST00000375254.3	-	35	4852	c.4825G>A	c.(4825-4827)Gcc>Acc	p.A1609T	UBR4_ENST00000375217.2_Missense_Mutation_p.A1609T|UBR4_ENST00000375226.2_Missense_Mutation_p.A1609T|UBR4_ENST00000375267.2_Missense_Mutation_p.A1609T	NM_020765.2	NP_065816.2	Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	1609					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		TGGCTCAGGGCATTCGTGACA	0.512																																						ENST00000375267.2																			0				breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171						c.(4825-4827)Gcc>Acc		ubiquitin protein ligase E3 component n-recognin 4							113	97	103					1																	19489045		2203	4300	6503	SO:0001583	missense	23352				interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr1:19489045C>T	AF348492	CCDS189.1	1p36.13	2008-06-23	2007-06-19	2007-06-19	ENSG00000127481	ENSG00000127481		"Ubiquitin protein ligase E3 component n-recognins"	30313	protein-coding gene	gene with protein product		609890	"zinc finger, UBR1 type 1"	ZUBR1		14702039, 10718198, 16055722	Standard	XM_005245802		Approved	KIAA1307, KIAA0462, RBAF600	uc001bbi.3	Q5T4S7	OTTHUMG00000002498	ENST00000375254.3:c.4825G>A	1.37:g.19489045C>T	ENSP00000364403:p.Ala1609Thr					UBR4_ENST00000375254.3_Missense_Mutation_p.A1609T|UBR4_ENST00000375226.2_Missense_Mutation_p.A1609T|UBR4_ENST00000375217.2_Missense_Mutation_p.A1609T	p.A1609T			Q5T4S7	UBR4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)	35	4828	-		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)	1609					A8MPT2|A8MQ33|A8MQB1|O60646|O75050|Q4QRK5|Q5T4S8|Q5T4S9|Q5TBN8|Q5TBP2|Q6DKH8|Q6P4A4|Q7L8P7|Q8IXJ4|Q8TDN5|Q8WV67|Q9HA46|Q9P2N9|Q9UG82	Missense_Mutation	SNP	ENST00000375254.3	37	c.4825G>A	CCDS189.1	.	.	.	.	.	.	.	.	.	.	C	36	5.607544	0.96626	.	.	ENSG00000127481	ENST00000375254;ENST00000375267;ENST00000375217;ENST00000375226;ENST00000417040;ENST00000419533	T;T;T;T	0.66460	-0.21;-0.21;-0.21;-0.21	5.98	5.98	0.97165	.	0.000000	0.85682	D	0.000000	T	0.79476	0.4452	L	0.50333	1.59	0.80722	D	1	D	0.63880	0.993	D	0.70935	0.971	T	0.78831	-0.2049	10	0.66056	D	0.02	.	20.4561	0.99145	0.0:1.0:0.0:0.0	.	1609	Q5T4S7	UBR4_HUMAN	T	1609;1609;1609;1609;319;825	ENSP00000364403:A1609T;ENSP00000364416:A1609T;ENSP00000364365:A1609T;ENSP00000364374:A1609T	ENSP00000364365:A1609T	A	-	1	0	UBR4	19361632	1.000000	0.71417	1.000000	0.80357	0.919000	0.55068	7.440000	0.80464	2.847000	0.97988	0.591000	0.81541	GCC		0.512	UBR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007085.1	NM_020765		6	89	0	0	0	1	0	6	89					T	19489045	C	T	19489045	3	4	339	1	0	0	0	0	1	0	0	0	16901	710	25	3	11014	3	UBR4	1	19489045	Missense_Mutation	SNP	C	TCGA-KK-A8IB-01A-11D-A364-08	2133826	19489045	229761576	2	17147											
C1orf38	9473	broad.mit.edu	37	chr1	28212408	28212408	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acatgattatgaagaaatacTtgagcaatttcagaaaacca	19	10	6	6	0	1	5	1	3	0	2	1	5	1	5	1	0	3	1	1	0	7	4			TCGA-KK-A8IB-01A-11D-A364-08	TCGA-KK-A8IB-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4f0563c-2660-42eb-aa93-bbe35d095334	5c82813e-861d-4893-bc6c-9cc3c0dba6c3	g.chr1:28212408T>G	ENST00000373921.3	+	6	1911	c.1907T>G	c.(1906-1908)cTt>cGt	p.L636R	THEMIS2_ENST00000373927.3_3'UTR|THEMIS2_ENST00000492877.1_3'UTR|THEMIS2_ENST00000328928.7_Missense_Mutation_p.L507R|THEMIS2_ENST00000373925.1_3'UTR	NM_001105556.1	NP_001099026.1	Q5TEJ8	THMS2_HUMAN	thymocyte selection associated family member 2	636	Asp/Glu-rich.				cell adhesion (GO:0007155)|inflammatory response (GO:0006954)|T cell receptor signaling pathway (GO:0050852)	cytoplasm (GO:0005737)|nucleus (GO:0005634)											GAAGAAATACTTGAGCAATTT	0.438																																						ENST00000373921.3																			0											c.(1906-1908)cTt>cGt		thymocyte selection associated family member 2							94	94	94					1																	28212408		1921	4131	6052	SO:0001583	missense	9473							g.chr1:28212408T>G	AF044896	CCDS30653.1, CCDS30654.1, CCDS41290.1, CCDS65461.1	1p35.2	2012-07-10	2012-07-10	2012-07-10	ENSG00000130775	ENSG00000130775			16839	protein-coding gene	gene with protein product	"induced by contact to basement membrane 1"		"chromosome 1 open reading frame 38"	C1orf38		16219472	Standard	XM_005246041		Approved	ICB-1, Icb-1	uc001bpc.4	Q5TEJ8	OTTHUMG00000003735	ENST00000373921.3:c.1907T>G	1.37:g.28212408T>G	ENSP00000363031:p.Leu636Arg					THEMIS2_ENST00000373925.1_3'UTR|THEMIS2_ENST00000373927.3_3'UTR|THEMIS2_ENST00000328928.7_Missense_Mutation_p.L507R|THEMIS2_ENST00000492877.1_3'UTR	p.L636R	NM_001105556.1	NP_001099026.1					6	1911	+								A2RTZ3|B4DZT9|B4DZY3|O60560|Q5TEJ1|Q5TEJ9|Q5TEK1|Q68DP4|Q9BYB6|Q9NS90	Missense_Mutation	SNP	ENST00000373921.3	37	c.1907T>G	CCDS41290.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	13.48|13.48	2.249374|2.249374	0.39797|0.39797	.|.	.|.	ENSG00000130775|ENSG00000130775	ENST00000328928;ENST00000373921|ENST00000456990	T;T|T	0.22743|0.22743	1.94;1.95|1.94	3.92|3.92	-5.52|-5.52	0.02560|0.02560	.|.	4.986860|4.986860	0.00628|0.00628	N|N	0.000476|0.000476	T|T	0.13756|0.13756	0.0333|0.0333	L|L	0.36672|0.36672	1.1|1.1	0.09310|0.09310	N|N	1|1	B;B;B|.	0.11235|.	0.004;0.0;0.002|.	B;B;B|.	0.08055|.	0.003;0.001;0.002|.	T|T	0.11641|0.11641	-1.0579|-1.0579	10|8	0.49607|0.22706	T|T	0.09|0.39	8.3833|8.3833	1.8448|1.8448	0.03157|0.03157	0.1469:0.3675:0.2363:0.2493|0.1469:0.3675:0.2363:0.2493	.|.	507;440;636|.	Q5TEJ8-5;Q5TEJ8-6;Q5TEJ8|.	.;.;THMS2_HUMAN|.	R|V	507;636|384	ENSP00000329862:L507R;ENSP00000363031:L636R|ENSP00000398049:L384V	ENSP00000329862:L507R|ENSP00000398049:L384V	L|L	+|+	2|1	0|2	C1orf38|C1orf38	28084995|28084995	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.036000|0.036000	0.12997|0.12997	-3.030000|-3.030000	0.00638|0.00638	-1.086000|-1.086000	0.03084|0.03084	0.454000|0.454000	0.30748|0.30748	CTT|TTG		0.438	THEMIS2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011148.1	NM_004848		13	53	0	0	0	1	0	13	53					G	28212408	T	G	28212408	3	3	339	1	0	0	0	0	1	0	0	0	2039	1609	56	5	1929	5	C1orf38	1	28212408	Missense_Mutation	SNP	T	TCGA-KK-A8IB-01A-11D-A364-08	8723363	28212408	221038213	3	17148											
PRKAA2	5563	broad.mit.edu	37	chr1	57161715	57161715	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gcatgtacctacgttatttaAgaagatccgagggggtgtct	10	12	12	7	2	1	2	0	0	1	2	2	3	2	2	2	2	2	3	2	2	5	5			TCGA-KK-A8IB-01A-11D-A364-08	TCGA-KK-A8IB-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4f0563c-2660-42eb-aa93-bbe35d095334	5c82813e-861d-4893-bc6c-9cc3c0dba6c3	g.chr1:57161715A>G	ENST00000371244.4	+	6	737	c.671A>G	c.(670-672)aAg>aGg	p.K224R		NM_006252.3	NP_006243.2	P54646	AAPK2_HUMAN	protein kinase, AMP-activated, alpha 2 catalytic subunit	224	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				autophagy (GO:0006914)|carnitine shuttle (GO:0006853)|cell cycle arrest (GO:0007050)|cellular lipid metabolic process (GO:0044255)|cellular response to glucose starvation (GO:0042149)|cellular response to nutrient levels (GO:0031669)|cholesterol biosynthetic process (GO:0006695)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|fatty acid homeostasis (GO:0055089)|glucose homeostasis (GO:0042593)|insulin receptor signaling pathway (GO:0008286)|lipid biosynthetic process (GO:0008610)|membrane organization (GO:0061024)|negative regulation of apoptotic process (GO:0043066)|negative regulation of TOR signaling (GO:0032007)|positive regulation of autophagy (GO:0010508)|positive regulation of glycolytic process (GO:0045821)|protein phosphorylation (GO:0006468)|regulation of circadian rhythm (GO:0042752)|regulation of energy homeostasis (GO:2000505)|regulation of fatty acid biosynthetic process (GO:0042304)|regulation of transcription, DNA-templated (GO:0006355)|response to stress (GO:0006950)|rhythmic process (GO:0048511)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	[acetyl-CoA carboxylase] kinase activity (GO:0050405)|[hydroxymethylglutaryl-CoA reductase (NADPH)] kinase activity (GO:0047322)|AMP-activated protein kinase activity (GO:0004679)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|histone serine kinase activity (GO:0035174)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)			breast(6)|endometrium(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|stomach(1)	23					Acetylsalicylic acid(DB00945)	ACGTTATTTAAGAAGATCCGA	0.463																																						ENST00000371244.4																			0				breast(6)|endometrium(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|stomach(1)	23						c.(670-672)aAg>aGg		protein kinase, AMP-activated, alpha 2 catalytic subunit							302	300	300					1																	57161715		2203	4300	6503	SO:0001583	missense	5563				carnitine shuttle|cell cycle arrest|cholesterol biosynthetic process|energy reserve metabolic process|fatty acid biosynthetic process|insulin receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation	cytosol|nucleoplasm	ATP binding|metal ion binding	g.chr1:57161715A>G	BC069823	CCDS605.1	1p31	2011-08-25			ENSG00000162409	ENSG00000162409			9377	protein-coding gene	gene with protein product		600497		PRKAA		7959015	Standard	NM_006252		Approved	AMPK, AMPKa2	uc001cyk.4	P54646	OTTHUMG00000008282	ENST00000371244.4:c.671A>G	1.37:g.57161715A>G	ENSP00000360290:p.Lys224Arg						p.K224R	NM_006252.3	NP_006243.2	P54646	AAPK2_HUMAN			6	737	+			224			Protein kinase.		Q9H1E8|Q9UD43	Missense_Mutation	SNP	ENST00000371244.4	37	c.671A>G	CCDS605.1	.	.	.	.	.	.	.	.	.	.	A	14.51	2.557797	0.45590	.	.	ENSG00000162409	ENST00000371244	T	0.64618	-0.11	5.98	5.98	0.97165	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.43700	0.1259	N	0.11651	0.15	0.80722	D	1	B	0.10296	0.003	B	0.10450	0.005	T	0.37776	-0.9691	10	0.14252	T	0.57	-20.5928	16.4622	0.84064	1.0:0.0:0.0:0.0	.	224	P54646	AAPK2_HUMAN	R	224	ENSP00000360290:K224R	ENSP00000360290:K224R	K	+	2	0	PRKAA2	56934303	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	8.962000	0.93254	2.289000	0.77006	0.533000	0.62120	AAG		0.463	PRKAA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022753.2	NM_006252		11	275	0	0	0	1	0	11	275					G	57161715	A	G	57161715	3	3	339	1	0	0	0	0	1	0	0	0	12494	72	3	4	693	4	PRKAA2	1	57161715	Missense_Mutation	SNP	A	TCGA-KK-A8IB-01A-11D-A364-08	28949307	57161715	192088906	4	17149											
SLC22A15	55356	broad.mit.edu	37	chr1	116569559	116569559	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	agttggcattgcccaatatgCcctgttaggatacttcatcc	9	13	8	11	0	1	0	1	0	0	0	2	1	2	1	3	2	3	3	3	2	4	6			TCGA-KK-A8IB-01A-11D-A364-08	TCGA-KK-A8IB-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4f0563c-2660-42eb-aa93-bbe35d095334	5c82813e-861d-4893-bc6c-9cc3c0dba6c3	g.chr1:116569559C>T	ENST00000369503.4	+	5	774	c.644C>T	c.(643-645)gCc>gTc	p.A215V	SLC22A15_ENST00000369502.1_Missense_Mutation_p.A215V	NM_018420.2	NP_060890.2	Q8IZD6	S22AF_HUMAN	solute carrier family 22, member 15	215					ion transport (GO:0006811)	integral component of membrane (GO:0016021)	transmembrane transporter activity (GO:0022857)			endometrium(1)|large_intestine(2)|lung(12)|prostate(1)|urinary_tract(1)	17	Lung SC(450;0.184)	all_cancers(81;3.17e-06)|all_epithelial(167;2.32e-06)|all_lung(203;9.81e-06)|Lung NSC(69;5.94e-05)		Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12)		GCCCAATATGCCCTGTTAGGA	0.478																																						ENST00000369503.4																			0				endometrium(1)|large_intestine(2)|lung(12)|prostate(1)|urinary_tract(1)	17						c.(643-645)gCc>gTc		solute carrier family 22, member 15							204	187	192					1																	116569559		1908	4109	6017	SO:0001583	missense	55356				ion transport	integral to membrane	transmembrane transporter activity	g.chr1:116569559C>T	AY145501	CCDS44198.1	1p12	2013-05-22	2008-01-11		ENSG00000163393	ENSG00000163393		"Solute carriers"	20301	protein-coding gene	gene with protein product		608275	"solute carrier family 22 (organic cation transporter), member 15"			12372408	Standard	NM_018420		Approved	FLIPT1	uc001egb.4	Q8IZD6	OTTHUMG00000012008	ENST00000369503.4:c.644C>T	1.37:g.116569559C>T	ENSP00000358515:p.Ala215Val					SLC22A15_ENST00000369502.1_Missense_Mutation_p.A215V	p.A215V	NM_018420.2	NP_060890.2	Q8IZD6	S22AF_HUMAN		Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12)	5	774	+	Lung SC(450;0.184)	all_cancers(81;3.17e-06)|all_epithelial(167;2.32e-06)|all_lung(203;9.81e-06)|Lung NSC(69;5.94e-05)	215					A8MUR3|Q6UXP5|Q8TAL9|Q9NSH5	Missense_Mutation	SNP	ENST00000369503.4	37	c.644C>T	CCDS44198.1	.	.	.	.	.	.	.	.	.	.	C	27.0	4.792053	0.90453	.	.	ENSG00000163393	ENST00000369503;ENST00000369502	T;T	0.76316	-1.01;0.32	4.92	4.92	0.64577	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	D	0.82797	0.5115	L	0.58428	1.81	0.80722	D	1	P;D	0.53151	0.872;0.958	P;P	0.61397	0.888;0.85	D	0.83770	0.0219	10	0.66056	D	0.02	.	18.6782	0.91537	0.0:1.0:0.0:0.0	.	215;215	Q8IZD6;Q8IZD6-2	S22AF_HUMAN;.	V	215	ENSP00000358515:A215V;ENSP00000358514:A215V	ENSP00000358514:A215V	A	+	2	0	SLC22A15	116371082	1.000000	0.71417	0.998000	0.56505	0.533000	0.34776	4.306000	0.59117	2.710000	0.92621	0.563000	0.77884	GCC		0.478	SLC22A15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033220.2	NM_018420		4	134	0	0	0	1	0	4	134					T	116569559	C	T	116569559	3	4	339	1	0	0	0	0	1	0	0	0	14446	739	26	3	662	3	SLC22A15	1	116569559	Missense_Mutation	SNP	C	TCGA-KK-A8IB-01A-11D-A364-08	59407844	116569559	132681062	5	17150											
FLG	2312	broad.mit.edu	37	chr1	152281367	152281367	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgtctttctcctgcacttgAtcttgcctgttcatgggatg	5	17	9	10	0	4	1	1	1	3	0	5	2	4	2	2	1	2	2	2	1	0	4			TCGA-KK-A8IB-01A-11D-A364-08	TCGA-KK-A8IB-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4f0563c-2660-42eb-aa93-bbe35d095334	5c82813e-861d-4893-bc6c-9cc3c0dba6c3	g.chr1:152281367A>G	ENST00000368799.1	-	3	6030	c.5995T>C	c.(5995-5997)Tca>Cca	p.S1999P	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1999	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCTGCACTTGATCTTGCCTGT	0.562									Ichthyosis																													ENST00000368799.1																			0				autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424						c.(5995-5997)Tca>Cca		filaggrin							627	497	541					1																	152281367		2203	4300	6503	SO:0001583	missense	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152281367A>G	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"EF-hand domain containing"	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.5995T>C	1.37:g.152281367A>G	ENSP00000357789:p.Ser1999Pro					FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	p.S1999P	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	6030	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1999			Ser-rich.		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	c.5995T>C	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	a	11.12	1.544959	0.27652	.	.	ENSG00000143631	ENST00000368799	T	0.06449	3.3	3.67	-2.93	0.05598	.	.	.	.	.	T	0.02727	0.0082	M	0.66939	2.045	0.09310	N	1	B	0.28713	0.22	B	0.33295	0.161	T	0.36817	-0.9732	9	0.30078	T	0.28	.	9.5222	0.39143	0.3287:0.0:0.6713:0.0	.	1999	P20930	FILA_HUMAN	P	1999	ENSP00000357789:S1999P	ENSP00000357789:S1999P	S	-	1	0	FLG	150547991	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.421000	0.07053	-0.661000	0.05345	0.477000	0.44152	TCA		0.562	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		97	519	0	0	0	1	0	97	519					G	152281367	A	G	152281367	3	3	339	1	0	0	0	0	1	0	0	0	5922	333	12	4	6194	4	FLG	1	152281367	Missense_Mutation	SNP	A	TCGA-KK-A8IB-01A-11D-A364-08	35711808	152281367	96969254	6	17151											
OR10T2	128360	broad.mit.edu	37	chr1	158369196	158369196	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagcagctggagctcccccaGgctggagaaacccaccagga	11	3	12	15	0	0	1	0	0	0	1	1	4	1	3	4	4	4	4	4	4	1	0			TCGA-KK-A8IB-01A-11D-A364-08	TCGA-KK-A8IB-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4f0563c-2660-42eb-aa93-bbe35d095334	5c82813e-861d-4893-bc6c-9cc3c0dba6c3	g.chr1:158369196G>A	ENST00000334438.1	-	1	60	c.61C>T	c.(61-63)Ctg>Ttg	p.L21L		NM_001004475.1	NP_001004475.1	Q8NGX3	O10T2_HUMAN	olfactory receptor, family 10, subfamily T, member 2	21						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34	all_hematologic(112;0.0378)					AGCTCCCCCAGGCTGGAGAAA	0.468																																						ENST00000334438.1																			0				central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						c.(61-63)Ctg>Ttg		olfactory receptor, family 10, subfamily T, member 2							33	37	36					1																	158369196		2203	4300	6503	SO:0001819	synonymous_variant	128360				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158369196G>A	AB065643	CCDS30895.1	1q23.1	2012-08-09			ENSG00000186306	ENSG00000186306		"GPCR / Class A : Olfactory receptors"	14816	protein-coding gene	gene with protein product							Standard	NM_001004475		Approved		uc010pih.2	Q8NGX3	OTTHUMG00000017521	ENST00000334438.1:c.61C>T	1.37:g.158369196G>A							p.L21L	NM_001004475.1	NP_001004475.1	Q8NGX3	O10T2_HUMAN			1	60	-	all_hematologic(112;0.0378)		21					Q6IF98	Silent	SNP	ENST00000334438.1	37	c.61C>T	CCDS30895.1																																																																																				0.468	OR10T2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046371.1	NM_001004475		4	27	0	0	0	1	0	4	27					A	158369196	G	A	158369196	2	1	339	1	0	0	0	0	0	0	0	1	10919	991	35	3		3	OR10T2	1	158369196	Silent	SNP	G	TCGA-KK-A8IB-01A-11D-A364-08	6087829	158369196	90881425	7	17152											
KLHDC9	126823	broad.mit.edu	37	chr1	161069373	161069373	+	Intron	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aggtctcttcggacagtcctTtctttctccccaaggaggaa	8	12	9	12	1	3	0	0	0	3	0	7	3	4	3	3	4	0	0	3	4	2	3			TCGA-KK-A8IB-01A-11D-A364-08	TCGA-KK-A8IB-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4f0563c-2660-42eb-aa93-bbe35d095334	5c82813e-861d-4893-bc6c-9cc3c0dba6c3	g.chr1:161069373T>A	ENST00000368011.4	+	3	829				PFDN2_ENST00000468311.1_5'Flank|KLHDC9_ENST00000490724.2_Intron|KLHDC9_ENST00000392192.2_Missense_Mutation_p.F231Y	NM_152366.4	NP_689579.3	Q8NEP7	KLDC9_HUMAN	kelch domain containing 9											lung(5)|upper_aerodigestive_tract(1)	6	all_cancers(52;1.28e-19)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00165)			GGACAGTCCTTTCTTTCTCCC	0.507																																						ENST00000392192.2																			0				lung(5)|upper_aerodigestive_tract(1)	6						c.(691-693)tTt>tAt		kelch domain containing 9							243	248	246					1																	161069373		2203	4300	6503	SO:0001627	intron_variant	126823							g.chr1:161069373T>A	BC022077	CCDS30919.1, CCDS41425.1	1q23.3	2008-02-05			ENSG00000162755	ENSG00000162755			28489	protein-coding gene	gene with protein product	"kelch/ankyrin repeat containing cyclin A1 interacting protein"					15159402	Standard	NM_152366		Approved	KARCA1	uc001fxr.3	Q8NEP7	OTTHUMG00000031479	ENST00000368011.4:c.688-15T>A	1.37:g.161069373T>A						KLHDC9_ENST00000490724.2_Intron|KLHDC9_ENST00000368011.4_Intron	p.F231Y	NM_001007255.2	NP_001007256.1	Q8NEP7	KLDC9_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00165)		3	834	+	all_cancers(52;1.28e-19)|Breast(13;0.00188)|all_hematologic(112;0.093)		0					Q5SY56|Q6NXT9|Q6PKN4|Q8N5E1|Q8NA16	Missense_Mutation	SNP	ENST00000368011.4	37	c.692T>A	CCDS30919.1	.	.	.	.	.	.	.	.	.	.	T	1.010	-0.688258	0.03328	.	.	ENSG00000162755	ENST00000392192	T	0.47528	0.84	4.67	3.51	0.40186	.	.	.	.	.	T	0.08133	0.0203	.	.	.	0.09310	N	1	B	0.29716	0.255	B	0.32393	0.145	T	0.32613	-0.9900	8	0.02654	T	1	.	7.1384	0.25541	0.0:0.1036:0.0:0.8964	.	231	Q8NEP7-2	.	Y	231	ENSP00000376030:F231Y	ENSP00000376030:F231Y	F	+	2	0	KLHDC9	159335997	0.000000	0.05858	0.243000	0.24186	0.112000	0.19704	-0.038000	0.12144	1.964000	0.57103	0.533000	0.62120	TTT		0.507	KLHDC9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077092.1	NM_152366		19	309	0	0	0	1	0	19	309					A	161069373	T	A	161069373	1	1	339	0	1	0	0	0	0	0	0	0	8364	1841	64	5		5	KLHDC9	1	161069373	Intron	SNP	T	TCGA-KK-A8IB-01A-11D-A364-08	2700177	161069373	88181248	8	17153											
RNF144A	9781	broad.mit.edu	37	chr2	7179870	7179870	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcaagtgcagtaaaggtgaCgacgacccgttacccaccta	12	7	10	12	3	0	1	0	1	0	0	0	3	0	1	3	1	3	4	3	1	5	3			TCGA-KK-A8IB-01A-11D-A364-08	TCGA-KK-A8IB-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4f0563c-2660-42eb-aa93-bbe35d095334	5c82813e-861d-4893-bc6c-9cc3c0dba6c3	g.chr2:7179870C>T	ENST00000320892.6	+	9	1300	c.858C>T	c.(856-858)gaC>gaT	p.D286D		NM_014746.3	NP_055561.2	P50876	R144A_HUMAN	ring finger protein 144A	286					protein ubiquitination (GO:0016567)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|prostate(1)	25	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)	all_cancers(51;0.226)		OV - Ovarian serous cystadenocarcinoma(76;0.195)		GTAAAGGTGACGACGACCCGT	0.582																																						ENST00000320892.6																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|prostate(1)	25						c.(856-858)gaC>gaT		ring finger protein 144A							124	102	110					2																	7179870		2203	4300	6503	SO:0001819	synonymous_variant	9781					Golgi apparatus|integral to membrane	ligase activity|zinc ion binding	g.chr2:7179870C>T	D79983	CCDS1657.1	2p25.2	2008-02-05	2007-08-20	2007-08-20	ENSG00000151692	ENSG00000151692		"RING-type (C3HC4) zinc fingers"	20457	protein-coding gene	gene with protein product			"ring finger protein 144"	RNF144		8724849, 10431818	Standard	NM_014746		Approved	UBCE7IP4, KIAA0161	uc002qys.3	P50876	OTTHUMG00000090353	ENST00000320892.6:c.858C>T	2.37:g.7179870C>T							p.D286D	NM_014746.3	NP_055561.2	P50876	R144A_HUMAN		OV - Ovarian serous cystadenocarcinoma(76;0.195)	9	1300	+	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)	all_cancers(51;0.226)	286					D6W4Y6|Q585H5	Silent	SNP	ENST00000320892.6	37	c.858C>T	CCDS1657.1																																																																																				0.582	RNF144A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206725.2	NM_014746		6	53	0	0	0	1	0	6	53					T	7179870	C	T	7179870	2	4	339	1	0	0	0	0	0	0	0	1	13445	535	19	1		1	RNF144A	2	7179870	Silent	SNP	C	TCGA-KK-A8IB-01A-11D-A364-08		7179870	236019503	9	17154											
IL18RAP	8807	broad.mit.edu	37	chr2	103063567	103063567	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ctgcttggcaccatcgggacCctggtggccgtgctggcggc	3	8	16	14	3	0	0	0	0	0	0	1	1	0	1	3	6	2	3	3	6	0	1			TCGA-KK-A8IB-01A-11D-A364-08	TCGA-KK-A8IB-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4f0563c-2660-42eb-aa93-bbe35d095334	5c82813e-861d-4893-bc6c-9cc3c0dba6c3	g.chr2:103063567C>T	ENST00000264260.2	+	10	1699	c.1110C>T	c.(1108-1110)acC>acT	p.T370T	IL18RAP_ENST00000409369.1_Silent_p.T228T	NM_003853.2	NP_003844.1	O95256	I18RA_HUMAN	interleukin 18 receptor accessory protein	370					cell surface receptor signaling pathway (GO:0007166)|immune response (GO:0006955)|inflammatory response (GO:0006954)	integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(4)	37						CCATCGGGACCCTGGTGGCCG	0.587																																						ENST00000264260.2																			0				autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(4)	37						c.(1108-1110)acC>acT		interleukin 18 receptor accessory protein							158	160	160					2																	103063567		2203	4300	6503	SO:0001819	synonymous_variant	8807				cell surface receptor linked signaling pathway|inflammatory response|innate immune response	integral to membrane	transmembrane receptor activity	g.chr2:103063567C>T	AF077346	CCDS2061.1	2q12.1	2013-01-11			ENSG00000115607	ENSG00000115607		"Interleukins and interleukin receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5989	protein-coding gene	gene with protein product		604509				9792649	Standard	XM_005264034		Approved	AcPL, CD218b	uc002tbx.3	O95256	OTTHUMG00000130777	ENST00000264260.2:c.1110C>T	2.37:g.103063567C>T						IL18RAP_ENST00000409369.1_Silent_p.T228T	p.T370T	NM_003853.2	NP_003844.1	O95256	I18RA_HUMAN			10	1699	+			370					B2RPJ3|Q3KPE7|Q3KPE8|Q53TT4|Q53TU5	Silent	SNP	ENST00000264260.2	37	c.1110C>T	CCDS2061.1																																																																																				0.587	IL18RAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253291.2	NM_003853		5	167	0	0	0	1	0	5	167					T	103063567	C	T	103063567	2	4	339	1	0	0	0	0	0	0	0	1	7648	610	22	3		3	IL18RAP	2	103063567	Silent	SNP	C	TCGA-KK-A8IB-01A-11D-A364-08	95883697	103063567	140135806	10	17155											
TTL	150465	broad.mit.edu	37	chr2	113260632	113260632	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcattcaaaaagagtattCaaagaactacgggaagtatg	17	9	9	6	1	2	2	2	0	0	2	2	3	2	3	0	1	3	3	0	1	8	5			TCGA-KK-A8IB-01A-11D-A364-08	TCGA-KK-A8IB-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4f0563c-2660-42eb-aa93-bbe35d095334	5c82813e-861d-4893-bc6c-9cc3c0dba6c3	g.chr2:113260632C>A	ENST00000233336.6	+	5	940	c.749C>A	c.(748-750)tCa>tAa	p.S250*		NM_153712.4	NP_714923.1	Q8NG68	TTL_HUMAN	tubulin tyrosine ligase	250	TTL. {ECO:0000255|PROSITE- ProRule:PRU00568}.				cellular protein modification process (GO:0006464)|microtubule cytoskeleton organization (GO:0000226)|regulation of axon extension (GO:0030516)		ATP binding (GO:0005524)|tubulin-tyrosine ligase activity (GO:0004835)			breast(1)|large_intestine(2)|ovary(1)	4		Ovarian(717;0.024)		BRCA - Breast invasive adenocarcinoma(221;6.17e-07)|STAD - Stomach adenocarcinoma(1183;0.00644)		AAAGAGTATTCAAAGAACTAC	0.383			T	ETV6	ALL																																	ENST00000233336.5				Dom	yes		2	2q13	150465	T	tubulin tyrosine ligase			L	ETV6		ALL		0				breast(1)|large_intestine(2)|ovary(1)	4						c.(748-750)tCa>tAa		tubulin tyrosine ligase							112	113	113					2																	113260632		2203	4300	6503	SO:0001587	stop_gained	150465				protein modification process		ATP binding|tubulin-tyrosine ligase activity	g.chr2:113260632C>A		CCDS2096.1	2q13	2010-04-21			ENSG00000114999	ENSG00000114999	6.3.2.25		21586	protein-coding gene	gene with protein product		608291				11431336	Standard	NM_153712		Approved	MGC46235	uc002thu.3	Q8NG68	OTTHUMG00000131316	ENST00000233336.6:c.749C>A	2.37:g.113260632C>A	ENSP00000233336:p.Ser250*						p.S250*	NM_153712.4	NP_714923.1	Q8NG68	TTL_HUMAN		BRCA - Breast invasive adenocarcinoma(221;6.17e-07)|STAD - Stomach adenocarcinoma(1183;0.00644)	5	940	+		Ovarian(717;0.024)	250			TTL.		Q585T3|Q7Z302|Q8N426	Nonsense_Mutation	SNP	ENST00000233336.6	37	c.749C>A	CCDS2096.1	.	.	.	.	.	.	.	.	.	.	C	39	7.637401	0.98403	.	.	ENSG00000114999	ENST00000233336	.	.	.	5.6	5.6	0.85130	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	18.3835	0.90459	0.0:1.0:0.0:0.0	.	.	.	.	X	250	.	ENSP00000233336:S250X	S	+	2	0	TTL	112977103	1.000000	0.71417	0.994000	0.49952	0.997000	0.91878	7.368000	0.79567	2.628000	0.89032	0.655000	0.94253	TCA		0.383	TTL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254085.2	NM_153712		6	90	1	0	0.00116845	1	0.00116845	6	90					A	113260632	C	A	113260632	4	1	339	1	0	0	0	0	0	1	0	0	16718	838	29	5	767	5	TTL	2	113260632	Nonsense_Mutation	SNP	C	TCGA-KK-A8IB-01A-11D-A364-08	10197065	113260632	129938741	11	17156											
FAM126B	285172	broad.mit.edu	37	chr2	201846387	201846387	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcttgcgaactactgaatctCgagggctctcactggatttg	8	12	11	10	2	2	1	1	1	2	0	4	4	2	2	0	2	3	2	0	2	3	3			TCGA-KK-A8IB-01A-11D-A364-08	TCGA-KK-A8IB-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4f0563c-2660-42eb-aa93-bbe35d095334	5c82813e-861d-4893-bc6c-9cc3c0dba6c3	g.chr2:201846387C>T	ENST00000418596.3	-	12	1386	c.1199G>A	c.(1198-1200)cGa>cAa	p.R400Q	AC005037.3_ENST00000413848.1_RNA|AC005037.3_ENST00000332935.6_RNA	NM_173822.3	NP_776183.1	Q8IXS8	F126B_HUMAN	family with sequence similarity 126, member B	400						intracellular (GO:0005622)				endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	16						TACTGAATCTCGAGGGCTCTC	0.483																																						ENST00000418596.2																			0				endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	16						c.(1198-1200)cGa>cAa		family with sequence similarity 126, member B							105	104	104					2																	201846387		2203	4300	6503	SO:0001583	missense	285172					intracellular		g.chr2:201846387C>T	BC039295	CCDS2335.1	2q33.1	2008-10-02			ENSG00000155744	ENSG00000155744			28593	protein-coding gene	gene with protein product						12477932	Standard	NM_173822		Approved	MGC39518, HYCC2	uc002uws.4	Q8IXS8	OTTHUMG00000132823	ENST00000418596.3:c.1199G>A	2.37:g.201846387C>T	ENSP00000393667:p.Arg400Gln					AC005037.3_ENST00000413848.1_RNA	p.R400Q	NM_173822.3	NP_776183.1	Q8IXS8	F126B_HUMAN			12	1386	-			400					B2RCG7|Q4ZG87|Q53TX6	Missense_Mutation	SNP	ENST00000418596.3	37	c.1199G>A	CCDS2335.1	.	.	.	.	.	.	.	.	.	.	C	13.34	2.208301	0.39003	.	.	ENSG00000155744	ENST00000418596	T	0.78003	-1.14	5.76	5.76	0.90799	.	0.628982	0.15721	N	0.247909	T	0.75817	0.3901	L	0.50333	1.59	0.47778	D	0.999517	D;D	0.59767	0.986;0.962	B;B	0.42495	0.389;0.267	T	0.74325	-0.3702	10	0.28530	T	0.3	-7.3086	19.9664	0.97271	0.0:1.0:0.0:0.0	.	206;400	B3KUG1;Q8IXS8	.;F126B_HUMAN	Q	400	ENSP00000393667:R400Q	ENSP00000393667:R400Q	R	-	2	0	FAM126B	201554632	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.152000	0.64882	2.718000	0.92993	0.655000	0.94253	CGA		0.483	FAM126B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256285.3	NM_173822		16	29	0	0	0	1	0	16	29					T	201846387	C	T	201846387	3	4	339	1	0	0	0	0	1	0	0	0	5430	884	31	2	397	2	FAM126B	2	201846387	Missense_Mutation	SNP	C	TCGA-KK-A8IB-01A-11D-A364-08	88585755	201846387	41352986	12	17157											
TRIP12	9320	broad.mit.edu	37	chr2	230656648	230656649	+	Frame_Shift_Del	DEL	TC	TC	-																															tgctctcatcatctgtggatTctctttcatcttcagcctgt																										TCGA-KK-A8IB-01A-11D-A364-08	TCGA-KK-A8IB-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4f0563c-2660-42eb-aa93-bbe35d095334	5c82813e-861d-4893-bc6c-9cc3c0dba6c3	g.chr2:230656648_230656649delTC	ENST00000283943.5	-	28	4301_4302	c.4123_4124delGA	c.(4123-4125)gaafs	p.E1375fs	TRIP12_ENST00000389044.4_Frame_Shift_Del_p.E1423fs|TRIP12_ENST00000389045.3_Frame_Shift_Del_p.E1105fs	NM_001284214.1|NM_004238.1	NP_001271143.1|NP_004229.1	Q14669	TRIPC_HUMAN	thyroid hormone receptor interactor 12	1375					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|embryo development (GO:0009790)|negative regulation of double-strand break repair (GO:2000780)|negative regulation of histone H2A K63-linked ubiquitination (GO:1901315)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligase activity (GO:0016874)|thyroid hormone receptor binding (GO:0046966)|ubiquitin-protein transferase activity (GO:0004842)			breast(2)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(19)|lung(32)|ovary(5)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)		ATCTGTGGATTCTCTTTCATCT	0.396																																						ENST00000283943.5																			0				breast(2)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(19)|lung(32)|ovary(5)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						c.(4123-4125)afs		thyroid hormone receptor interactor 12																																				SO:0001589	frameshift_variant	9320				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	proteasome complex	thyroid hormone receptor binding|ubiquitin-protein ligase activity	g.chr2:230656648_230656649delTC	L40383	CCDS33391.1, CCDS63145.1, CCDS63146.1	2q36.3	2008-05-27			ENSG00000153827	ENSG00000153827			12306	protein-coding gene	gene with protein product		604506				7776974	Standard	XM_005246961		Approved	KIAA0045	uc002vpw.1	Q14669	OTTHUMG00000153623	ENST00000283943.5:c.4123_4124delGA	2.37:g.230656650_230656651delTC	ENSP00000283943:p.Glu1375fs					TRIP12_ENST00000389045.3_Frame_Shift_Del_p.E1105fs|TRIP12_ENST00000389044.4_Frame_Shift_Del_p.E1423fs	p.E1375fs	NM_004238.1	NP_004229.1	Q14669	TRIPC_HUMAN		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)	28	4301_4302	-		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)	1375					D4HL82|Q14CA3|Q14CF1|Q15644|Q53R87|Q53TE7	Frame_Shift_Del	DEL	ENST00000283943.5	37	c.4123_4124delGA	CCDS33391.1																																																																																				0.396	TRIP12-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000331861.3	NM_004238		16	98						16	98	---	---	---	---	-	230656649	TC	-	230656648	7	5	339	1	0	1	0	1	0	0	0	0	16553	1783	62	0	1910	0	TRIP12	2	230656648	Frame_Shift_Del	DEL	TC	TCGA-KK-A8IB-01A-11D-A364-08	28810261	230656648	12542725	13	17158											
CHL1	10752	broad.mit.edu	37	chr3	436435	436435	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	acattacaactccatcaaagCccagctggcacctctcaaac	14	7	4	16	0	2	0	2	0	1	0	4	0	3	0	3	1	5	2	3	1	4	1			TCGA-KK-A8IB-01A-11D-A364-08	TCGA-KK-A8IB-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4f0563c-2660-42eb-aa93-bbe35d095334	5c82813e-861d-4893-bc6c-9cc3c0dba6c3	g.chr3:436435C>A	ENST00000256509.2	+	24	3616	c.2974C>A	c.(2974-2976)Ccc>Acc	p.P992T	CHL1_ENST00000397491.2_Missense_Mutation_p.P976T	NM_001253387.1|NM_001253388.1|NM_006614.3	NP_001240316.1|NP_001240317.1|NP_006605.2	Q96FC9	DDX11_HUMAN	cell adhesion molecule L1-like	0					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|ATP catabolic process (GO:0006200)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|sister chromatid cohesion (GO:0007062)|viral process (GO:0016032)	midbody (GO:0030496)|nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle pole (GO:0000922)	4 iron, 4 sulfur cluster binding (GO:0051539)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA-dependent ATPase activity (GO:0008094)|double-stranded DNA binding (GO:0003690)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)			NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1)	93		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)		TCCATCAAAGCCCAGCTGGCA	0.393																																						ENST00000256509.2																			0				NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1)	93						c.(2974-2976)Ccc>Acc		cell adhesion molecule L1-like							83	80	81					3																	436435		2203	4300	6503	SO:0001583	missense	10752				axon guidance|cell adhesion|signal transduction	integral to membrane|plasma membrane|proteinaceous extracellular matrix		g.chr3:436435C>A	AF002246	CCDS2556.1, CCDS58812.1, CCDS74887.1	3p26	2013-05-01	2013-05-01		ENSG00000134121	ENSG00000134121		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	1939	protein-coding gene	gene with protein product	"neural cell adhesion molecule", "close homolog of L1"	607416	"cell adhesion molecule with homology to L1CAM (close homologue of L1)", "cell adhesion molecule with homology to L1CAM (close homolog of L1)"			9799093	Standard	NM_006614		Approved	CALL, L1CAM2, FLJ44930, MGC132578	uc003bot.3	O00533	OTTHUMG00000090601	ENST00000256509.2:c.2974C>A	3.37:g.436435C>A	ENSP00000256509:p.Pro992Thr					CHL1_ENST00000397491.2_Missense_Mutation_p.P976T	p.P992T	NM_001253387.1|NM_001253388.1|NM_006614.3	NP_001240316.1|NP_001240317.1|NP_006605.2	O00533	CHL1_HUMAN		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)	24	3616	+		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)	976			Fibronectin type-III 4.		Q13333|Q86VQ4|Q86W62|Q92498|Q92770|Q92998|Q92999	Missense_Mutation	SNP	ENST00000256509.2	37	c.2974C>A	CCDS2556.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	0.005|0.005	-2.214557|-2.214557	0.00289|0.00289	.|.	.|.	ENSG00000134121|ENSG00000134121	ENST00000256509;ENST00000397491|ENST00000445697	T;T|.	0.47177|.	0.85;0.85|.	5.58|5.58	3.03|3.03	0.35002|0.35002	Fibronectin, type III (4);Immunoglobulin-like fold (1);|.	0.268769|.	0.38492|.	N|.	0.001673|.	T|T	0.04363|0.04363	0.0120|0.0120	N|N	0.00085|0.00085	-2.2|-2.2	0.19575|0.19575	N|N	0.999963|0.999963	B;B;B|.	0.11235|.	0.004;0.004;0.001|.	B;B;B|.	0.12156|.	0.002;0.0;0.007|.	T|T	0.37663|0.37663	-0.9696|-0.9696	10|5	0.02654|.	T|.	1|.	.|.	5.7293|5.7293	0.18030|0.18030	0.0:0.5248:0.2714:0.2038|0.0:0.5248:0.2714:0.2038	.|.	976;976;992|.	B3KX75;O00533;O00533-2|.	.;CHL1_HUMAN;.|.	T|R	992;976|178	ENSP00000256509:P992T;ENSP00000380628:P976T|.	ENSP00000256509:P992T|.	P|S	+|+	1|3	0|2	CHL1|CHL1	411435|411435	0.319000|0.319000	0.24607|0.24607	0.192000|0.192000	0.23308|0.23308	0.167000|0.167000	0.22549|0.22549	1.060000|1.060000	0.30530|0.30530	0.343000|0.343000	0.23821|0.23821	0.591000|0.591000	0.81541|0.81541	CCC|AGC		0.393	CHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207155.2	NM_006614		12	48	1	0	2.61681e-11	1	2.72896e-11	12	48					A	436435	C	A	436435	3	1	339	1	0	0	0	0	1	0	0	0	3349	739	26	5	3060	5	CHL1	3	436435	Missense_Mutation	SNP	C	TCGA-KK-A8IB-01A-11D-A364-08		436435	197585995	14	17159											
GALNTL2	117248	broad.mit.edu	37	chr3	16252698	16252698	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tccaaaacactggagcgtatGactctcttatgtcgctgcga	10	11	9	11	3	1	1	0	1	1	0	4	3	2	2	1	1	3	2	1	1	4	2			TCGA-KK-A8IB-01A-11D-A364-08	TCGA-KK-A8IB-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4f0563c-2660-42eb-aa93-bbe35d095334	5c82813e-861d-4893-bc6c-9cc3c0dba6c3	g.chr3:16252698G>A	ENST00000339732.5	+	5	1650	c.1147G>A	c.(1147-1149)Gac>Aac	p.D383N	GALNT15_ENST00000437509.1_Missense_Mutation_p.D383N	NM_054110.4	NP_473451.3	Q8N3T1	GLT15_HUMAN	polypeptide N-acetylgalactosaminyltransferase 15	383	Catalytic subdomain B.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|transport vesicle (GO:0030133)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)										TGGAGCGTATGACTCTCTTAT	0.547																																						ENST00000339732.5																			0											c.(1147-1149)Gac>Aac		UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 15							161	132	142					3																	16252698		2203	4300	6503	SO:0001583	missense	117248							g.chr3:16252698G>A	AY358443	CCDS33711.1	3p25.1	2014-03-13	2014-03-13	2013-01-25	ENSG00000131386	ENSG00000131386	2.4.1.41	"Glycosyltransferase family 2 domain containing"	21531	protein-coding gene	gene with protein product	"polypeptide GalNAc transferase 15"	615131	"UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 2", "UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 15"	GALNTL2		12975309, 14702039, 15147861	Standard	NM_054110		Approved	GALNT7, pp-GalNAc-T15	uc003car.4	Q8N3T1	OTTHUMG00000156893	ENST00000339732.5:c.1147G>A	3.37:g.16252698G>A	ENSP00000344260:p.Asp383Asn					GALNT15_ENST00000437509.1_Missense_Mutation_p.D383N	p.D383N	NM_054110.4	NP_473451.3					5	1650	+								A6NMN1|B2R638|F1LIP6|Q86T60|Q96C46|Q96DJ5	Missense_Mutation	SNP	ENST00000339732.5	37	c.1147G>A	CCDS33711.1	.	.	.	.	.	.	.	.	.	.	G	34	5.379967	0.95945	.	.	ENSG00000131386	ENST00000339732;ENST00000437509	T;T	0.65549	-0.16;-0.16	5.92	5.92	0.95590	.	0.048377	0.85682	D	0.000000	T	0.79293	0.4421	M	0.88241	2.94	0.80722	D	1	D	0.59767	0.986	P	0.53266	0.722	T	0.82967	-0.0194	10	0.87932	D	0	.	19.9157	0.97061	0.0:0.0:1.0:0.0	.	383	Q8N3T1	GLTL2_HUMAN	N	383	ENSP00000344260:D383N;ENSP00000395873:D383N	ENSP00000344260:D383N	D	+	1	0	GALNTL2	16227702	1.000000	0.71417	0.946000	0.38457	0.819000	0.46315	8.621000	0.90949	2.813000	0.96785	0.561000	0.74099	GAC		0.547	GALNT15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346483.2	NM_054110		17	59	0	0	0	1	0	17	59					A	16252698	G	A	16252698	3	1	339	1	0	0	0	0	1	0	0	0	6222	1290	45	3	1165	3	GALNTL2	3	16252698	Missense_Mutation	SNP	G	TCGA-KK-A8IB-01A-11D-A364-08	15816263	16252698	181769732	15	17160											
IGSF10	285313	broad.mit.edu	37	chr3	151165279	151165279	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tttatgtttgtcataggactAtcagatattgttctggagtc	9	18	9	5	0	3	1	2	0	1	1	4	3	3	3	0	2	0	2	0	2	4	8			TCGA-KK-A8IB-01A-11D-A364-08	TCGA-KK-A8IB-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4f0563c-2660-42eb-aa93-bbe35d095334	5c82813e-861d-4893-bc6c-9cc3c0dba6c3	g.chr3:151165279A>G	ENST00000282466.3	-	4	2489	c.2490T>C	c.(2488-2490)gaT>gaC	p.D830D		NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	830					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)	extracellular region (GO:0005576)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			TCATAGGACTATCAGATATTG	0.433																																						ENST00000282466.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116						c.(2488-2490)gaT>gaC		immunoglobulin superfamily, member 10							150	155	154					3																	151165279		2203	4300	6503	SO:0001819	synonymous_variant	285313				cell differentiation|multicellular organismal development|ossification	extracellular region		g.chr3:151165279A>G	AY273815	CCDS3160.1	3q25.1	2013-01-11			ENSG00000152580	ENSG00000152580		"Immunoglobulin superfamily / I-set domain containing"	26384	protein-coding gene	gene with protein product						12477932	Standard	NM_178822		Approved	FLJ25972, CMF608	uc011bod.2	Q6WRI0	OTTHUMG00000159856	ENST00000282466.3:c.2490T>C	3.37:g.151165279A>G							p.D830D	NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)		4	2489	-			830					Q86YJ9|Q8N772|Q8NA84	Silent	SNP	ENST00000282466.3	37	c.2490T>C	CCDS3160.1																																																																																				0.433	IGSF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357782.1	NM_178822		6	119	0	0	0	1	0	6	119					G	151165279	A	G	151165279	2	3	339	1	0	0	0	0	0	0	0	1	7597	446	16	4		4	IGSF10	3	151165279	Silent	SNP	A	TCGA-KK-A8IB-01A-11D-A364-08	134912581	151165279	46857151	16	17161											
HCN1	348980	broad.mit.edu	37	chr5	45695903	45695903	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgggctgcagcatggaggtgAactgcctctgcatgaagccg	8	7	15	11	2	1	2	0	2	1	0	1	3	1	3	2	3	6	4	2	3	2	0			TCGA-KK-A8IB-01A-11D-A364-08	TCGA-KK-A8IB-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4f0563c-2660-42eb-aa93-bbe35d095334	5c82813e-861d-4893-bc6c-9cc3c0dba6c3	g.chr5:45695903A>C	ENST00000303230.4	-	1	350	c.293T>G	c.(292-294)tTc>tGc	p.F98C		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	98	Involved in subunit assembly. {ECO:0000250}.				apical protein localization (GO:0045176)|cellular response to cAMP (GO:0071320)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|retinal cone cell development (GO:0046549)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|intracellular cAMP activated cation channel activity (GO:0005222)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated sodium channel activity (GO:0005248)			NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						CATGGAGGTGAACTGCCTCTG	0.682																																						ENST00000303230.4																			0				NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						c.(292-294)tTc>tGc		hyperpolarization activated cyclic nucleotide-gated potassium channel 1							26	29	28					5																	45695903		2195	4279	6474	SO:0001583	missense	348980					integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity	g.chr5:45695903A>C	AF064876	CCDS3952.1	5p12	2011-07-05			ENSG00000164588	ENSG00000164588		"Voltage-gated ion channels / Cyclic nucleotide-regulated channels"	4845	protein-coding gene	gene with protein product		602780		BCNG1		9405696, 9630217, 16382102	Standard	NM_021072		Approved	BCNG-1, HAC-2	uc003jok.3	O60741	OTTHUMG00000131155	ENST00000303230.4:c.293T>G	5.37:g.45695903A>C	ENSP00000307342:p.Phe98Cys						p.F98C	NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN			1	350	-			98			Involved in subunit assembly (By similarity).			Missense_Mutation	SNP	ENST00000303230.4	37	c.293T>G	CCDS3952.1	.	.	.	.	.	.	.	.	.	.	A	22.3	4.274296	0.80580	.	.	ENSG00000164588	ENST00000303230	T	0.80304	-1.36	4.18	4.18	0.49190	Ion transport N-terminal (1);	0.000000	0.48767	D	0.000174	D	0.88562	0.6470	M	0.78637	2.42	0.80722	D	1	D	0.76494	0.999	D	0.74674	0.984	D	0.90033	0.4136	10	0.87932	D	0	.	13.0467	0.58931	1.0:0.0:0.0:0.0	.	98	O60741	HCN1_HUMAN	C	98	ENSP00000307342:F98C	ENSP00000307342:F98C	F	-	2	0	HCN1	45731660	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	8.500000	0.90498	1.732000	0.51606	0.379000	0.24179	TTC		0.682	HCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253847.1	NM_021072		9	38	0	0	0	1	0	9	38					C	45695903	A	C	45695903	3	2	339	1	0	0	0	0	1	0	0	0	6996	246	9	5	2411	5	HCN1	5	45695903	Missense_Mutation	SNP	A	TCGA-KK-A8IB-01A-11D-A364-08		45695903	135219357	17	17162											
CHD1	1105	broad.mit.edu	37	chr5	98216807	98216807	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgggaaagcaattcatctccTacagttaaaggacctggttc	12	11	9	9	0	2	0	1	0	1	0	4	2	2	2	2	3	2	3	2	3	5	4			TCGA-KK-A8IB-01A-11D-A364-08	TCGA-KK-A8IB-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4f0563c-2660-42eb-aa93-bbe35d095334	5c82813e-861d-4893-bc6c-9cc3c0dba6c3	g.chr5:98216807T>G	ENST00000284049.3	-	21	3182	c.3033A>C	c.(3031-3033)gtA>gtC	p.V1011V		NM_001270.2	NP_001261.2	O14646	CHD1_HUMAN	chromodomain helicase DNA binding protein 1	1011					chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|methylated histone binding (GO:0035064)			NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	49		all_cancers(142;5.36e-08)|all_epithelial(76;6.97e-11)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|all_lung(232;0.00119)|Ovarian(225;0.024)|Colorectal(57;0.117)		COAD - Colon adenocarcinoma(37;0.0717)	Epirubicin(DB00445)	ATTCATCTCCTACAGTTAAAG	0.294																																						ENST00000284049.3																			0				NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	49						c.(3031-3033)gtA>gtC		chromodomain helicase DNA binding protein 1	Epirubicin(DB00445)						71	75	74					5																	98216807		2203	4298	6501	SO:0001819	synonymous_variant	1105				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|methylated histone residue binding	g.chr5:98216807T>G	AF006513	CCDS34204.1	5q15-q21	2008-07-18			ENSG00000153922	ENSG00000153922			1915	protein-coding gene	gene with protein product		602118				8460153, 9326634	Standard	XM_005271866		Approved		uc003knf.3	O14646	OTTHUMG00000162744	ENST00000284049.3:c.3033A>C	5.37:g.98216807T>G							p.V1011V	NM_001270.2	NP_001261.2	O14646	CHD1_HUMAN		COAD - Colon adenocarcinoma(37;0.0717)	21	3182	-		all_cancers(142;5.36e-08)|all_epithelial(76;6.97e-11)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|all_lung(232;0.00119)|Ovarian(225;0.024)|Colorectal(57;0.117)	1011					Q17RZ3	Silent	SNP	ENST00000284049.3	37	c.3033A>C	CCDS34204.1																																																																																				0.294	CHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370295.1	NM_001270		14	40	0	0	0	1	0	14	40					G	98216807	T	G	98216807	2	3	339	1	0	0	0	0	0	0	0	1	3323	1509	53	5		5	CHD1	5	98216807	Silent	SNP	T	TCGA-KK-A8IB-01A-11D-A364-08	52520904	98216807	82698453	18	17163											
PCDHGA9	56107	broad.mit.edu	37	chr5	140783254	140783254	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gccccggtttttgctcaacgGatttaccgagttaaagtcct	8	13	9	11	3	1	0	1	0	0	0	2	2	2	1	4	2	3	3	4	2	4	5			TCGA-KK-A8IB-01A-11D-A364-08	TCGA-KK-A8IB-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4f0563c-2660-42eb-aa93-bbe35d095334	5c82813e-861d-4893-bc6c-9cc3c0dba6c3	g.chr5:140783254G>T	ENST00000573521.1	+	1	735	c.735G>T	c.(733-735)cgG>cgT	p.R245R	PCDHGA3_ENST00000253812.6_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron	NM_018921.2|NM_032089.1	NP_061744.1|NP_114478.1	Q9Y5G4	PCDG9_HUMAN	protocadherin gamma subfamily A, 9	245	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTGCTCAACGGATTTACCGAG	0.557																																						ENST00000573521.1																			0				endometrium(1)|kidney(1)|lung(3)	5						c.(733-735)cgG>cgT									45	50	49					5																	140783254		1994	4168	6162	SO:0001819	synonymous_variant	0							g.chr5:140783254G>T	AF152516	CCDS58981.1, CCDS75341.1	5q31	2010-01-26						"Cadherins / Protocadherins : Clustered"	8707	other	protocadherin		606296				10380929	Standard	NM_018921		Approved	PCDH-GAMMA-A9		Q9Y5G4		ENST00000573521.1:c.735G>T	5.37:g.140783254G>T						PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA8_ENST00000398604.2_Intron	p.R245R	NM_018921.2|NM_032089.1	NP_061744.1|NP_114478.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	735	+								A2RU65|Q9Y5C9	Silent	SNP	ENST00000573521.1	37	c.735G>T	CCDS58981.1																																																																																				0.557	PCDHGA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437105.1	NM_018921		12	72	1	0	9.31168e-06	1	9.57398e-06	12	72					T	140783254	G	T	140783254	2	4	339	1	0	0	0	0	0	0	0	1	11561	1161	41	5		5	PCDHGA9	5	140783254	Silent	SNP	G	TCGA-KK-A8IB-01A-11D-A364-08	42566447	140783254	40132006	19	17164											
ITPR3	3710	broad.mit.edu	37	chr6	33657844	33657844	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgtgtttgtggtgagcttcGtgggcaaccgtggcaccttc	4	13	14	10	3	0	1	0	1	0	0	3	1	0	1	2	3	2	4	2	3	1	3			TCGA-KK-A8IB-01A-11D-A364-08	TCGA-KK-A8IB-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4f0563c-2660-42eb-aa93-bbe35d095334	5c82813e-861d-4893-bc6c-9cc3c0dba6c3	g.chr6:33657844G>A	ENST00000374316.5	+	52	7961	c.6901G>A	c.(6901-6903)Gtg>Atg	p.V2301M	ITPR3_ENST00000605930.1_Missense_Mutation_p.V2301M			Q14573	ITPR3_HUMAN	inositol 1,4,5-trisphosphate receptor, type 3	2301					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|calcium ion transport into cytosol (GO:0060402)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|long-term synaptic potentiation (GO:0060291)|memory (GO:0007613)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|response to calcium ion (GO:0051592)|sensory perception of bitter taste (GO:0050913)|sensory perception of sweet taste (GO:0050916)|sensory perception of umami taste (GO:0050917)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	apical part of cell (GO:0045177)|brush border (GO:0005903)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|myelin sheath (GO:0043209)|neuronal cell body (GO:0043025)|nuclear outer membrane (GO:0005640)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|receptor complex (GO:0043235)	inositol 1,3,4,5 tetrakisphosphate binding (GO:0043533)|inositol 1,4,5 trisphosphate binding (GO:0070679)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|inositol hexakisphosphate binding (GO:0000822)|intracellular ligand-gated calcium channel activity (GO:0005218)|phosphatidylinositol binding (GO:0035091)			NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85					Caffeine(DB00201)	GGTGAGCTTCGTGGGCAACCG	0.572																																						ENST00000374316.5																			0				NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85						c.(6901-6903)Gtg>Atg		inositol 1,4,5-trisphosphate receptor, type 3							147	123	131					6																	33657844		2203	4300	6503	SO:0001583	missense	3710				activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion	apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane	inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding	g.chr6:33657844G>A	D26351	CCDS4783.1	6p21.31	2011-11-24	2011-04-28		ENSG00000096433	ENSG00000096433		"Ion channels / Inositol triphosphate receptors"	6182	protein-coding gene	gene with protein product		147267	"inositol 1,4,5-triphosphate receptor, type 3"			8081734, 8288584	Standard	NM_002224		Approved	IP3R3	uc021ywr.1	Q14573	OTTHUMG00000014532	ENST00000374316.5:c.6901G>A	6.37:g.33657844G>A	ENSP00000363435:p.Val2301Met					ITPR3_ENST00000605930.1_Missense_Mutation_p.V2301M	p.V2301M			Q14573	ITPR3_HUMAN			52	7961	+			2301					Q14649|Q5TAQ2	Missense_Mutation	SNP	ENST00000374316.5	37	c.6901G>A	CCDS4783.1	.	.	.	.	.	.	.	.	.	.	G	26.1	4.706863	0.89018	.	.	ENSG00000096433	ENST00000374316	D	0.98531	-4.98	5.4	5.4	0.78164	Ion transport (1);	0.124557	0.53938	D	0.000057	D	0.98027	0.9350	L	0.42529	1.33	0.80722	D	1	D;D	0.76494	0.999;0.99	D;P	0.78314	0.991;0.894	D	0.97344	0.9959	10	0.28530	T	0.3	-30.4791	19.1858	0.93644	0.0:0.0:1.0:0.0	.	2301;1971	Q14573;Q59ES2	ITPR3_HUMAN;.	M	2301	ENSP00000363435:V2301M	ENSP00000363435:V2301M	V	+	1	0	ITPR3	33765822	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.004000	0.88535	2.559000	0.86315	0.462000	0.41574	GTG		0.572	ITPR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040204.2	NM_002224		3	62	0	0	0	1	0	3	62					A	33657844	G	A	33657844	3	1	339	1	0	0	0	0	1	0	0	0	7922	1145	40	1	7103	1	ITPR3	6	33657844	Missense_Mutation	SNP	G	TCGA-KK-A8IB-01A-11D-A364-08		33657844	137457223	20	17165											
KCNK17	89822	broad.mit.edu	37	chr6	39272357	39272357	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttgagcaccacgaggttgaGtgggatccccacaagggcaa	11	6	14	10	1	0	2	0	2	0	0	1	4	1	3	3	3	1	4	3	3	2	2			TCGA-KK-A8IB-01A-11D-A364-08	TCGA-KK-A8IB-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4f0563c-2660-42eb-aa93-bbe35d095334	5c82813e-861d-4893-bc6c-9cc3c0dba6c3	g.chr6:39272357G>A	ENST00000373231.4	-	3	659	c.427C>T	c.(427-429)Ctc>Ttc	p.L143F	KCNK17_ENST00000453413.2_Missense_Mutation_p.L143F	NM_031460.3	NP_113648.2	Q96T54	KCNKH_HUMAN	potassium channel, subfamily K, member 17	143					potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	potassium channel activity (GO:0005267)|voltage-gated ion channel activity (GO:0005244)			endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(2)	14						ACGAGGTTGAGTGGGATCCCC	0.637																																						ENST00000453413.2																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(2)	14						c.(427-429)Ctc>Ttc		potassium channel, subfamily K, member 17							144	144	144					6																	39272357		2203	4300	6503	SO:0001583	missense	89822					integral to membrane	potassium channel activity|voltage-gated ion channel activity	g.chr6:39272357G>A	AF358910	CCDS4842.1, CCDS47419.1	6p21	2012-03-07			ENSG00000124780	ENSG00000124780		"Potassium channels", "Voltage-gated ion channels / Potassium channels, Two-P"	14465	protein-coding gene	gene with protein product		607370				16382106	Standard	NM_031460		Approved	K2p17.1, TALK-2, TALK2, TASK4, TASK-4	uc003ooo.3	Q96T54	OTTHUMG00000014646	ENST00000373231.4:c.427C>T	6.37:g.39272357G>A	ENSP00000362328:p.Leu143Phe					KCNK17_ENST00000373231.4_Missense_Mutation_p.L143F	p.L143F	NM_001135111.1	NP_001128583.1	Q96T54	KCNKH_HUMAN			3	567	-			143					E9PB46|Q5TCF4|Q8TAW4|Q9BXD1|Q9H592	Missense_Mutation	SNP	ENST00000373231.4	37	c.427C>T	CCDS4842.1	.	.	.	.	.	.	.	.	.	.	G	16.62	3.173077	0.57584	.	.	ENSG00000124780	ENST00000373231;ENST00000453413	T;T	0.36340	1.26;1.26	4.79	3.91	0.45181	Ion transport 2 (1);	0.000000	0.40469	N	0.001094	T	0.38480	0.1042	L	0.49699	1.58	0.36795	D	0.885057	D;D	0.89917	0.999;1.0	D;D	0.97110	0.978;1.0	T	0.32241	-0.9914	10	0.49607	T	0.09	.	10.3851	0.44134	0.1785:0.0:0.8215:0.0	.	143;143	E9PB46;Q96T54	.;KCNKH_HUMAN	F	143	ENSP00000362328:L143F;ENSP00000401271:L143F	ENSP00000362328:L143F	L	-	1	0	KCNK17	39380335	1.000000	0.71417	0.987000	0.45799	0.721000	0.41392	3.923000	0.56469	0.444000	0.26612	-1.134000	0.01955	CTC		0.637	KCNK17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040453.2	NM_031460		15	102	0	0	0	1	0	15	102					A	39272357	G	A	39272357	3	1	339	1	0	0	0	0	1	0	0	0	8064	1029	36	3	715	3	KCNK17	6	39272357	Missense_Mutation	SNP	G	TCGA-KK-A8IB-01A-11D-A364-08	5614513	39272357	131842710	21	17166											
SYNE1	23345	broad.mit.edu	37	chr6	152676065	152676065	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catcctctctggtgtgcagcActgagttcaacagggcctgc	7	10	11	13	0	2	1	1	1	1	0	4	1	3	1	2	2	4	3	2	2	1	1			TCGA-KK-A8IB-01A-11D-A364-08	TCGA-KK-A8IB-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4f0563c-2660-42eb-aa93-bbe35d095334	5c82813e-861d-4893-bc6c-9cc3c0dba6c3	g.chr6:152676065A>T	ENST00000367255.5	-	67	11256	c.10655T>A	c.(10654-10656)gTg>gAg	p.V3552E	SYNE1_ENST00000341594.5_Missense_Mutation_p.V3523E|SYNE1_ENST00000423061.1_Missense_Mutation_p.V3559E|SYNE1_ENST00000448038.1_Missense_Mutation_p.V3559E|SYNE1_ENST00000265368.4_Missense_Mutation_p.V3552E	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	3552					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		GGTGTGCAGCACTGAGTTCAA	0.542										HNSCC(10;0.0054)																												ENST00000367255.5																			0				NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524						c.(10654-10656)gTg>gAg		spectrin repeat containing, nuclear envelope 1							125	128	127					6																	152676065		2203	4300	6503	SO:0001583	missense	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152676065A>T	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"myocyte nuclear envelope protein 1", "nuclear envelope spectrin repeat-1"	608441	"chromosome 6 open reading frame 98"	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.10655T>A	6.37:g.152676065A>T	ENSP00000356224:p.Val3552Glu	HNSCC(10;0.0054)				SYNE1_ENST00000448038.1_Missense_Mutation_p.V3559E|SYNE1_ENST00000341594.5_Missense_Mutation_p.V3523E|SYNE1_ENST00000265368.4_Missense_Mutation_p.V3552E|SYNE1_ENST00000423061.1_Missense_Mutation_p.V3559E	p.V3552E	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	67	11256	-		Ovarian(120;0.0955)	3552					E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	c.10655T>A	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	A	13.16	2.154764	0.38021	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594	T;T;T;T;T	0.57436	0.4;1.12;0.4;1.12;0.4	5.22	-3.28	0.05033	.	0.671320	0.13481	N	0.384704	T	0.28134	0.0694	L	0.50333	1.59	0.09310	N	0.999998	P;P;P;P	0.43938	0.822;0.822;0.822;0.785	B;B;B;P	0.45276	0.358;0.358;0.358;0.475	T	0.30909	-0.9962	10	0.62326	D	0.03	.	7.9663	0.30100	0.4309:0.1239:0.4452:0.0	.	3552;3552;3552;3559	B7ZBC3;Q8NF91;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.	E	3552;3559;3552;3559;3523	ENSP00000356224:V3552E;ENSP00000396024:V3559E;ENSP00000265368:V3552E;ENSP00000390975:V3559E;ENSP00000341887:V3523E	ENSP00000265368:V3552E	V	-	2	0	SYNE1	152717758	0.141000	0.22595	0.136000	0.22124	0.935000	0.57460	2.318000	0.43779	-0.775000	0.04584	-0.379000	0.06801	GTG		0.542	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		7	92	0	0	0	1	0	7	92					T	152676065	A	T	152676065	3	4	339	1	0	0	0	0	1	0	0	0	15442	159	6	5	16131	5	SYNE1	6	152676065	Missense_Mutation	SNP	A	TCGA-KK-A8IB-01A-11D-A364-08	113403708	152676065	18439002	22	17167											
OPRM1	4988	broad.mit.edu	37	chr6	154412384	154412384	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggttacaatcccagaaactaCgttccagactgtttcttggc	10	12	8	11	1	1	2	0	0	1	2	3	2	3	2	2	2	3	3	2	2	4	5			TCGA-KK-A8IB-01A-11D-A364-08	TCGA-KK-A8IB-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4f0563c-2660-42eb-aa93-bbe35d095334	5c82813e-861d-4893-bc6c-9cc3c0dba6c3	g.chr6:154412384C>T	ENST00000330432.7	+	3	1178	c.941C>T	c.(940-942)aCg>aTg	p.T314M	OPRM1_ENST00000428397.2_Missense_Mutation_p.T314M|OPRM1_ENST00000414028.2_Missense_Mutation_p.T314M|OPRM1_ENST00000435918.2_Missense_Mutation_p.T314M|OPRM1_ENST00000522236.1_Missense_Mutation_p.T214M|OPRM1_ENST00000337049.4_Missense_Mutation_p.T314M|OPRM1_ENST00000518759.1_Missense_Mutation_p.T233M|OPRM1_ENST00000419506.2_Missense_Mutation_p.T314M|OPRM1_ENST00000434900.2_Missense_Mutation_p.T407M|OPRM1_ENST00000452687.2_Missense_Mutation_p.T314M|OPRM1_ENST00000524163.1_Missense_Mutation_p.T314M|OPRM1_ENST00000520708.1_Missense_Mutation_p.T214M|OPRM1_ENST00000360422.4_Missense_Mutation_p.T314M|OPRM1_ENST00000522555.1_Missense_Mutation_p.T214M|OPRM1_ENST00000229768.5_Missense_Mutation_p.T314M	NM_000914.3	NP_000905.3	P35372	OPRM_HUMAN	opioid receptor, mu 1	314					adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|behavioral response to ethanol (GO:0048149)|calcium ion transmembrane transport (GO:0070588)|cellular response to stress (GO:0033554)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|locomotory behavior (GO:0007626)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of cAMP-mediated signaling (GO:0043951)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|negative regulation of nitric oxide biosynthetic process (GO:0045019)|negative regulation of Wnt protein secretion (GO:0061358)|neuropeptide signaling pathway (GO:0007218)|opioid receptor signaling pathway (GO:0038003)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neurogenesis (GO:0050769)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|sensory perception (GO:0007600)|sensory perception of pain (GO:0019233)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	beta-endorphin receptor activity (GO:0004979)|G-protein alpha-subunit binding (GO:0001965)|G-protein coupled receptor activity (GO:0004930)|morphine receptor activity (GO:0038047)|voltage-gated calcium channel activity (GO:0005245)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(15)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	33		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;9.26e-11)|BRCA - Breast invasive adenocarcinoma(81;0.0154)	Alfentanil(DB00802)|Alvimopan(DB06274)|Amitriptyline(DB00321)|Anileridine(DB00913)|Buprenorphine(DB00921)|Butorphanol(DB00611)|Codeine(DB00318)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Dezocine(DB01209)|Diphenoxylate(DB01081)|Ethylmorphine(DB01466)|Fentanyl(DB00813)|Heroin(DB01452)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Ketamine(DB01221)|Ketobemidone(DB06738)|Levallorphan(DB00504)|Levomethadyl Acetate(DB01227)|Levorphanol(DB00854)|Loperamide(DB00836)|Methadone(DB00333)|Methadyl Acetate(DB01433)|Methylnaltrexone(DB06800)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Ondansetron(DB00904)|Oxycodone(DB00497)|Oxymorphone(DB01192)|Pentazocine(DB00652)|Pethidine(DB00454)|Remifentanil(DB00899)|Sufentanil(DB00708)|Tapentadol(DB06204)|Tramadol(DB00193)	CCAGAAACTACGTTCCAGACT	0.463																																						ENST00000414028.2																			0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(15)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	33						c.(940-942)aCg>aTg		opioid receptor, mu 1	Alfentanil(DB00802)|Anileridine(DB00913)|Buprenorphine(DB00921)|Butorphanol(DB00611)|Codeine(DB00318)|Dezocine(DB01209)|Diphenoxylate(DB01081)|Fentanyl(DB00813)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Levallorphan(DB00504)|Levomethadyl Acetate(DB01227)|Levorphanol(DB00854)|Loperamide(DB00836)|Methadone(DB00333)|Methadyl Acetate(DB01433)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Oxycodone(DB00497)|Oxymorphone(DB01192)|Pentazocine(DB00652)|Propoxyphene(DB00647)|Remifentanil(DB00899)|Sufentanil(DB00708)|Tramadol(DB00193)						142	153	149					6																	154412384		2179	4295	6474	SO:0001583	missense	4988				behavior|negative regulation of cell proliferation|sensory perception	endoplasmic reticulum|Golgi apparatus|integral to plasma membrane	mu-opioid receptor activity|protein binding	g.chr6:154412384C>T	L29301	CCDS43517.1, CCDS43518.1, CCDS47503.1, CCDS47504.1, CCDS47505.1, CCDS47506.1, CCDS47507.1, CCDS47508.1, CCDS55071.1, CCDS55068.1, CCDS55069.1, CCDS55070.1	6q24-q25	2012-08-08			ENSG00000112038	ENSG00000112038		"GPCR / Class A : Opioid receptors"	8156	protein-coding gene	gene with protein product		600018					Standard	NM_001145285		Approved	MOR1	uc003qpo.1	P35372	OTTHUMG00000015870	ENST00000330432.7:c.941C>T	6.37:g.154412384C>T	ENSP00000328264:p.Thr314Met					OPRM1_ENST00000419506.2_Missense_Mutation_p.T314M|OPRM1_ENST00000518759.1_Missense_Mutation_p.T233M|OPRM1_ENST00000360422.4_Missense_Mutation_p.T314M|OPRM1_ENST00000522236.1_Missense_Mutation_p.T214M|OPRM1_ENST00000435918.2_Missense_Mutation_p.T314M|OPRM1_ENST00000520708.1_Missense_Mutation_p.T214M|OPRM1_ENST00000524163.1_Missense_Mutation_p.T314M|OPRM1_ENST00000229768.5_Missense_Mutation_p.T314M|OPRM1_ENST00000337049.4_Missense_Mutation_p.T314M|OPRM1_ENST00000452687.2_Missense_Mutation_p.T314M|OPRM1_ENST00000428397.2_Missense_Mutation_p.T314M|OPRM1_ENST00000522555.1_Missense_Mutation_p.T214M|OPRM1_ENST00000434900.2_Missense_Mutation_p.T407M|OPRM1_ENST00000330432.7_Missense_Mutation_p.T314M	p.T314M	NM_001145284.2	NP_001138756.1	P35372	OPRM_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;9.26e-11)|BRCA - Breast invasive adenocarcinoma(81;0.0154)	3	991	+		Ovarian(120;0.196)	314					B0FXJ1|B2R9S7|B8Q1L7|B8Q1L8|B8Q1L9|E7EWZ3|G8XRH6|G8XRH8|Q12930|Q4VWM1|Q4VWM2|Q4VWM3|Q4VWM4|Q4VWM6|Q4VWX6|Q5TDA1|Q6UPP1|Q6UQ80|Q7Z2D8|Q86V80|Q8IWW3|Q8IWW4|Q9UCZ4|Q9UN57	Missense_Mutation	SNP	ENST00000330432.7	37	c.941C>T	CCDS55070.1	.	.	.	.	.	.	.	.	.	.	C	14.27	2.485575	0.44147	.	.	ENSG00000112038	ENST00000434900;ENST00000520708;ENST00000518759;ENST00000330432;ENST00000360422;ENST00000428397;ENST00000452687;ENST00000229768;ENST00000419506;ENST00000524163;ENST00000414028;ENST00000435918;ENST00000337049;ENST00000522555;ENST00000522236	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.37752	1.18;1.18;1.18;1.18;1.18;1.18;1.18;1.18;1.18;1.18;1.18;1.18;1.18;1.18;1.18	5.86	5.86	0.93980	GPCR, rhodopsin-like superfamily (1);	0.267599	0.42294	D	0.000725	T	0.36635	0.0974	L	0.46885	1.475	0.33567	D	0.59813	D;P;P;D;D;P;P;P;D;D;P;P	0.61697	0.99;0.956;0.956;0.982;0.984;0.827;0.653;0.956;0.964;0.978;0.956;0.956	P;P;P;P;P;P;B;P;P;P;P;P	0.58013	0.624;0.592;0.592;0.702;0.831;0.513;0.39;0.56;0.715;0.673;0.673;0.473	T	0.26985	-1.0087	10	0.49607	T	0.09	.	13.3896	0.60816	0.0:0.9284:0.0:0.0716	.	314;314;314;314;407;233;214;314;314;314;314;314	P35372-4;P35372-8;P35372-11;P35372-9;P35372-10;B8Q1L9;Q6UPP1;P35372-5;P35372;P35372-7;P35372-3;P35372-2	.;.;.;.;.;.;.;.;OPRM_HUMAN;.;.;.	M	407;214;233;314;314;314;314;314;314;314;314;314;314;214;214	ENSP00000394624:T407M;ENSP00000430876:T214M;ENSP00000430260:T233M;ENSP00000328264:T314M;ENSP00000353598:T314M;ENSP00000411903:T314M;ENSP00000410497:T314M;ENSP00000229768:T314M;ENSP00000403549:T314M;ENSP00000430097:T314M;ENSP00000399359:T314M;ENSP00000413752:T314M;ENSP00000338381:T314M;ENSP00000429719:T214M;ENSP00000429373:T214M	ENSP00000229768:T314M	T	+	2	0	OPRM1	154454077	0.937000	0.31787	0.855000	0.33649	0.664000	0.39144	2.302000	0.43637	2.774000	0.95407	0.650000	0.86243	ACG		0.463	OPRM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042786.2	NM_000914		19	75	0	0	0	1	0	19	75					T	154412384	C	T	154412384	3	4	339	1	0	0	0	0	1	0	0	0	10887	536	19	1	1285	1	OPRM1	6	154412384	Missense_Mutation	SNP	C	TCGA-KK-A8IB-01A-11D-A364-08	1736319	154412384	16702683	23	17168											
TYW1	55253	broad.mit.edu	37	chr7	66563653	66563653	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttgaagctactccaccagTgtaaaatttccagcttcctg	10	14	6	11	0	0	1	0	1	0	0	3	1	3	1	4	0	3	3	4	0	4	6			TCGA-KK-A8IB-01A-11D-A364-08	TCGA-KK-A8IB-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4f0563c-2660-42eb-aa93-bbe35d095334	5c82813e-861d-4893-bc6c-9cc3c0dba6c3	g.chr7:66563653T>C	ENST00000359626.5	+	12	1674	c.1510T>C	c.(1510-1512)Tgt>Cgt	p.C504R		NM_018264.2	NP_060734.2	Q9NV66	TYW1_HUMAN	tRNA-yW synthesizing protein 1 homolog (S. cerevisiae)	504					tRNA processing (GO:0008033)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|FMN binding (GO:0010181)|iron ion binding (GO:0005506)|lyase activity (GO:0016829)|oxidoreductase activity (GO:0016491)			breast(1)|endometrium(8)|kidney(10)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(3)|stomach(2)|urinary_tract(2)	46		Lung NSC(55;0.0846)|all_lung(88;0.183)				ACTCCACCAGTGTAAAATTTC	0.453																																						ENST00000359626.5																			0				breast(1)|endometrium(8)|kidney(10)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(3)|stomach(2)|urinary_tract(2)	46						c.(1510-1512)Tgt>Cgt		tRNA-yW synthesizing protein 1 homolog (S. cerevisiae)							106	101	102					7																	66563653		2203	4300	6503	SO:0001583	missense	55253				tRNA processing		4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity	g.chr7:66563653T>C	AK001762	CCDS5538.1	7q11.21	2007-11-29	2007-11-29	2007-11-29	ENSG00000198874	ENSG00000198874			25598	protein-coding gene	gene with protein product	"tRNA-yW synthesizing protein 1 homolog A (S. cerevisiae)"	611243	"radical S-adenosyl methionine and flavodoxin domains 1"	RSAFD1		16162496, 17150819	Standard	NM_018264		Approved	FLJ10900, MGC23001, MGC60291, YPL207W, TYW1A	uc003tvn.4	Q9NV66	OTTHUMG00000129723	ENST00000359626.5:c.1510T>C	7.37:g.66563653T>C	ENSP00000352645:p.Cys504Arg						p.C504R	NM_018264.2	NP_060734.2	Q9NV66	TYW1_HUMAN			12	1674	+		Lung NSC(55;0.0846)|all_lung(88;0.183)	504					Q6PJG8|Q75MG8|Q75MN3|Q86V12|Q8IVS7|Q9H9C4	Missense_Mutation	SNP	ENST00000359626.5	37	c.1510T>C	CCDS5538.1	.	.	.	.	.	.	.	.	.	.	T	0.546	-0.851309	0.02651	.	.	ENSG00000198874	ENST00000359626	D	0.91011	-2.77	3.9	-2.13	0.07144	Radical SAM (1);	0.513199	0.20458	U	0.091953	T	0.49830	0.1580	N	0.00031	-2.595	0.38511	D	0.948467	B	0.02656	0.0	B	0.04013	0.001	T	0.60291	-0.7292	10	0.02654	T	1	.	4.3547	0.11172	0.1999:0.5068:0.0:0.2933	.	504	Q9NV66	TYW1_HUMAN	R	504	ENSP00000352645:C504R	ENSP00000352645:C504R	C	+	1	0	TYW1	66201088	0.000000	0.05858	0.966000	0.40874	0.950000	0.60333	0.341000	0.19909	-0.227000	0.09884	-0.461000	0.05368	TGT		0.453	TYW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251932.2	NM_018264		4	70	0	0	0	1	0	4	70					C	66563653	T	C	66563653	3	2	339	1	0	0	0	0	1	0	0	0	16815	1696	59	4	1556	4	TYW1	7	66563653	Missense_Mutation	SNP	T	TCGA-KK-A8IB-01A-11D-A364-08		66563653	92575010	24	17169											
ASB15	142685	broad.mit.edu	37	chr7	123269122	123269122	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	actgcgctgtattttggcgtTtctaataatgacgttcattg	8	17	9	7	3	2	1	1	1	1	0	2	1	2	1	0	1	1	4	0	1	3	8			TCGA-KK-A8IB-01A-11D-A364-08	TCGA-KK-A8IB-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4f0563c-2660-42eb-aa93-bbe35d095334	5c82813e-861d-4893-bc6c-9cc3c0dba6c3	g.chr7:123269122T>C	ENST00000451558.1	+	12	1595	c.1074T>C	c.(1072-1074)gtT>gtC	p.V358V	ASB15_ENST00000451215.1_Silent_p.V358V|ASB15_ENST00000275699.3_Silent_p.V358V|ASB15_ENST00000540573.1_Silent_p.V358V|ASB15_ENST00000434204.1_Silent_p.V358V			Q8WXK1	ASB15_HUMAN	ankyrin repeat and SOCS box containing 15	358					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)					breast(1)|kidney(1)|large_intestine(1)|lung(6)|skin(3)	12						ATTTTGGCGTTTCTAATAATG	0.453																																						ENST00000451558.1																			0				breast(1)|kidney(1)|large_intestine(1)|lung(6)|skin(3)	12						c.(1072-1074)gtT>gtC		ankyrin repeat and SOCS box containing 15							151	137	142					7																	123269122		2203	4300	6503	SO:0001819	synonymous_variant	142685				intracellular signal transduction			g.chr7:123269122T>C	AF403033	CCDS34742.1	7q31.31	2013-01-10	2011-01-25		ENSG00000146809	ENSG00000146809		"Ankyrin repeat domain containing"	19767	protein-coding gene	gene with protein product			"ankyrin repeat and SOCS box-containing 15"			12076535	Standard	XM_005250149		Approved	FLJ43370	uc003vkw.1	Q8WXK1	OTTHUMG00000157114	ENST00000451558.1:c.1074T>C	7.37:g.123269122T>C						ASB15_ENST00000275699.3_Silent_p.V358V|ASB15_ENST00000540573.1_Silent_p.V358V|ASB15_ENST00000451215.1_Silent_p.V358V|ASB15_ENST00000434204.1_Silent_p.V358V	p.V358V			Q8WXK1	ASB15_HUMAN			12	1595	+			358					Q3ZCP3|Q3ZCP5|Q68D37	Silent	SNP	ENST00000451558.1	37	c.1074T>C	CCDS34742.1																																																																																				0.453	ASB15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347493.1			46	73	0	0	0	1	0	46	73					C	123269122	T	C	123269122	2	2	339	1	0	0	0	0	0	0	0	1	1019	1828	64	4		4	ASB15	7	123269122	Silent	SNP	T	TCGA-KK-A8IB-01A-11D-A364-08	56705469	123269122	35869541	25	17170											
AHCYL2	23382	broad.mit.edu	37	chr7	128865041	128865042	+	Frame_Shift_Ins	INS	-	-	C																															ggccgccgtgggcgccatggINScccccccggcgggcggtgga																										TCGA-KK-A8IB-01A-11D-A364-08	TCGA-KK-A8IB-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4f0563c-2660-42eb-aa93-bbe35d095334	5c82813e-861d-4893-bc6c-9cc3c0dba6c3	g.chr7:128865041_128865042insC	ENST00000325006.3	+	1	178_179	c.124_125insC	c.(124-126)gccfs	p.A42fs	AHCYL2_ENST00000446544.2_Frame_Shift_Ins_p.A42fs	NM_001130720.2|NM_015328.3	NP_001124192.1|NP_056143.1	Q96HN2	SAHH3_HUMAN	adenosylhomocysteinase-like 2	42					one-carbon metabolic process (GO:0006730)		adenosylhomocysteinase activity (GO:0004013)			breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	22						GGGCGCCATGGCCCCCCCGGCG	0.787																																					Pancreas(160;1736 1964 29875 40941 45605)	ENST00000325006.3																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	22						c.(124-126)cccfs		adenosylhomocysteinase-like 2																																				SO:0001589	frameshift_variant	23382				one-carbon metabolic process		adenosylhomocysteinase activity	g.chr7:128865041_128865042insC	AB020635	CCDS5812.1, CCDS47706.1, CCDS47707.1, CCDS47708.1, CCDS47707.2	7q32.1	2009-06-12	2009-06-12		ENSG00000158467	ENSG00000158467			22204	protein-coding gene	gene with protein product			"S-adenosylhomocysteine hydrolase-like 2"				Standard	NM_001130720		Approved	KIAA0828	uc011kov.2	Q96HN2	OTTHUMG00000157677	ENST00000325006.3:c.131dupC	7.37:g.128865048_128865048dupC	ENSP00000315931:p.Ala42fs					AHCYL2_ENST00000446544.2_Frame_Shift_Ins_p.P42fs	p.P42fs	NM_001130720.2|NM_015328.3	NP_001124192.1|NP_056143.1	Q96HN2	SAHH3_HUMAN			1	178_179	+			42					B4DIZ5|D9N155|O94917	Frame_Shift_Ins	INS	ENST00000325006.3	37	c.124_125insC	CCDS5812.1																																																																																				0.787	AHCYL2-012	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000354065.1			2	4						2	4	---	---	---	---	C	128865042	-	C	128865041	7	5	339	1	0	1	1	0	0	0	0	0	411	1203	42	0	126	0	AHCYL2	7	128865041	Frame_Shift_Ins	INS	-	TCGA-KK-A8IB-01A-11D-A364-08	5595919	128865041	30273622	26	17171											
UBXN2B	137886	broad.mit.edu	37	chr8	59343160	59343160	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgtgaatgaacttttcaaaGaggcaagggaacatggggct	13	10	13	5	0	1	3	1	2	0	1	1	4	1	4	0	4	2	2	0	4	5	3			TCGA-KK-A8IB-01A-11D-A364-08	TCGA-KK-A8IB-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4f0563c-2660-42eb-aa93-bbe35d095334	5c82813e-861d-4893-bc6c-9cc3c0dba6c3	g.chr8:59343160G>T	ENST00000399598.2	+	3	393	c.271G>T	c.(271-273)Gag>Tag	p.E91*	UBXN2B_ENST00000522978.1_3'UTR	NM_001077619.1	NP_001071087.1	Q14CS0	UBX2B_HUMAN	UBX domain protein 2B	91						endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)				endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	13						ACTTTTCAAAGAGGCAAGGGA	0.363																																						ENST00000399598.2																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	13						c.(271-273)Gag>Tag		UBX domain protein 2B							66	64	65					8																	59343160		1845	4096	5941	SO:0001587	stop_gained	137886					cytosol|endoplasmic reticulum|Golgi apparatus|nucleus		g.chr8:59343160G>T	AK054658	CCDS43741.1	8q12.1	2008-08-08			ENSG00000215114	ENSG00000215114		"UBX domain containing"	27035	protein-coding gene	gene with protein product		610686				8619474, 9110174	Standard	NM_001077619		Approved	p37	uc003xtl.3	Q14CS0	OTTHUMG00000164300	ENST00000399598.2:c.271G>T	8.37:g.59343160G>T	ENSP00000382507:p.Glu91*					UBXN2B_ENST00000522978.1_3'UTR	p.E91*	NM_001077619.1	NP_001071087.1	Q14CS0	UBX2B_HUMAN			3	393	+			91					B3KWZ3	Nonsense_Mutation	SNP	ENST00000399598.2	37	c.271G>T	CCDS43741.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	37|37	6.408354|6.408354	0.97542|0.97542	.|.	.|.	ENSG00000215114|ENSG00000215114	ENST00000399598|ENST00000521796	.|.	.|.	.|.	6.04|6.04	6.04|6.04	0.98038|0.98038	.|.	0.000000|.	0.45126|.	U|.	0.000395|.	.|T	.|0.76248	.|0.3961	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.73418	.|-0.3989	.|3	0.02654|.	T|.	1|.	-17.4385|-17.4385	18.7597|18.7597	0.91845|0.91845	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	X|I	91|36	.|.	ENSP00000382507:E91X|.	E|R	+|+	1|2	0|0	UBXN2B|UBXN2B	59505714|59505714	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.972000|0.972000	0.66771|0.66771	6.332000|6.332000	0.72934|0.72934	2.873000|2.873000	0.98535|0.98535	0.561000|0.561000	0.74099|0.74099	GAG|AGA		0.363	UBXN2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378184.1	NM_001077619		15	39	1	0	2.31682e-05	1	2.349e-05	15	39					T	59343160	G	T	59343160	4	4	339	1	0	0	0	0	0	1	0	0	16912	943	33	5	281	5	UBXN2B	8	59343160	Nonsense_Mutation	SNP	G	TCGA-KK-A8IB-01A-11D-A364-08		59343160	87020862	27	17172											
OSGIN2	734	broad.mit.edu	37	chr8	90933337	90933337	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggctccatgttgacaatcagCtttggaagttggatggaact	10	12	12	7	0	1	1	1	1	0	0	2	4	2	4	1	4	2	4	1	4	3	3			TCGA-KK-A8IB-01A-11D-A364-08	TCGA-KK-A8IB-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4f0563c-2660-42eb-aa93-bbe35d095334	5c82813e-861d-4893-bc6c-9cc3c0dba6c3	g.chr8:90933337C>T	ENST00000297438.2	+	5	781	c.426C>T	c.(424-426)agC>agT	p.S142S	OSGIN2_ENST00000451899.2_Silent_p.S186S|OSGIN2_ENST00000520659.1_Silent_p.S186S	NM_004337.2	NP_004328.1	Q9Y236	OSGI2_HUMAN	oxidative stress induced growth inhibitor family member 2	142					meiotic nuclear division (GO:0007126)					breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|urinary_tract(1)	17			BRCA - Breast invasive adenocarcinoma(11;0.0344)			TGACAATCAGCTTTGGAAGTT	0.328																																						ENST00000451899.2																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|urinary_tract(1)	17						c.(556-558)agC>agT		oxidative stress induced growth inhibitor family member 2							115	132	126					8																	90933337		2203	4300	6503	SO:0001819	synonymous_variant	734				germ cell development|meiosis			g.chr8:90933337C>T	AF061326	CCDS6248.1, CCDS47888.1	8q21	2006-10-05	2006-10-05	2006-10-05	ENSG00000164823	ENSG00000164823			1355	protein-coding gene	gene with protein product		604598	"chromosome 8 open reading frame 1"	C8orf1		9933573	Standard	NM_004337		Approved	hT41	uc003yeh.3	Q9Y236	OTTHUMG00000163811	ENST00000297438.2:c.426C>T	8.37:g.90933337C>T						OSGIN2_ENST00000297438.2_Silent_p.S142S|OSGIN2_ENST00000520659.1_Silent_p.S186S	p.S186S	NM_001126111.1	NP_001119583.1	Q9Y236	OSGI2_HUMAN	BRCA - Breast invasive adenocarcinoma(11;0.0344)		5	818	+			142						Silent	SNP	ENST00000297438.2	37	c.558C>T	CCDS6248.1																																																																																				0.328	OSGIN2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000375691.1	NM_004337		6	156	0	0	0	1	0	6	156					T	90933337	C	T	90933337	2	4	339	1	0	0	0	0	0	0	0	1	11290	796	28	3		3	OSGIN2	8	90933337	Silent	SNP	C	TCGA-KK-A8IB-01A-11D-A364-08	31590177	90933337	55430685	28	17173											
TBC1D2	55357	broad.mit.edu	37	chr9	100962536	100962536	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gggggtgggggttcctcaccGgctgttggagatggtcttgg	3	11	20	7	1	2	1	1	0	1	1	3	2	3	1	2	8	0	3	2	8	0	3	rs201387462	byFrequency	TCGA-KK-A8IB-01A-11D-A364-08	TCGA-KK-A8IB-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4f0563c-2660-42eb-aa93-bbe35d095334	5c82813e-861d-4893-bc6c-9cc3c0dba6c3	g.chr9:100962536G>A	ENST00000375064.1	-	12	2616	c.2578C>T	c.(2578-2580)Cgc>Tgc	p.R860C	TBC1D2_ENST00000375063.1_Splice_Site_p.R400W|TBC1D2_ENST00000375066.5_Splice_Site_p.R849W|TBC1D2_ENST00000342112.5_Splice_Site_p.R642W	NM_001267571.1	NP_001254500.1	Q9BYX2	TBD2A_HUMAN	TBC1 domain family, member 2	860					positive regulation of Rab GTPase activity (GO:0032851)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)	cadherin binding (GO:0045296)|Rab GTPase activator activity (GO:0005097)			breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;2.55e-37)		GTTCCTCACCGGCTGTTGGAG	0.537													G|||	7	0.00139776	0	0	5008	,	,		12791	0		0	False		,,,				2504	0.0072					ENST00000375066.5																			0				breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24						c.e12+1		TBC1 domain family, member 2							66	58	61					9																	100962536		2203	4300	6503	SO:0001630	splice_region_variant	55357					cell junction|cytoplasmic membrane-bounded vesicle|nucleus	Rab GTPase activator activity	g.chr9:100962536G>A	AY026527	CCDS35080.1, CCDS59137.1, CCDS75865.1	9q22.32	2011-11-30			ENSG00000095383	ENSG00000095383			18026	protein-coding gene	gene with protein product	"prostate antigen recognized and identified by SEREX"	609871					Standard	NM_018421		Approved	PARIS1, TBC1D2A, Armus	uc011lvb.2	Q9BYX2	OTTHUMG00000020343	ENST00000375064.1:c.2579+1C>T	9.37:g.100962536G>A						TBC1D2_ENST00000375064.1_Splice_Site_p.R860_splice|TBC1D2_ENST00000375063.1_Splice_Site_p.R400_splice|TBC1D2_ENST00000342112.5_Splice_Site_p.R642_splice	p.R849_splice	NM_018421.3	NP_060891.3	Q9BYX2	TBD2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(323;2.55e-37)	12	2636	-		Myeloproliferative disorder(762;0.0255)	860					B3KWD1|B4DQ05|B9A6J7|Q59EU0|Q5TBQ5|Q6IPC7|Q7L1K8|Q8WYT1|Q9H6A2|Q9NSH4	Splice_Site	SNP	ENST00000375064.1	37	c.2546_splice		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.25|18.25	3.583516|3.583516	0.65992|0.65992	.|.	.|.	ENSG00000095383|ENSG00000095383	ENST00000375064|ENST00000375066;ENST00000342112;ENST00000375063	T|T;T;T	0.20881|0.23147	2.04|1.92;1.92;1.92	4.53|4.53	1.35|1.35	0.21983|0.21983	.|Rab-GAP/TBC domain (1);	0.133866|0.133866	0.48286|0.48286	D|N	0.000191|0.000191	T|T	0.38983|0.38983	0.1061|0.1061	M|M	0.64997|0.64997	1.995|1.995	0.47065|0.47065	D|D	0.999307|0.999307	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.72625	.|0.952;0.978	T|T	0.19063|0.19063	-1.0317|-1.0317	8|10	0.87932|0.87932	D|D	0|0	.|.	3.9478|3.9478	0.09355|0.09355	0.0887:0.1346:0.535:0.2417|0.0887:0.1346:0.535:0.2417	.|.	.|860;849	.|Q9BYX2;Q9BYX2-2	.|TBD2A_HUMAN;.	C|W	860|849;642;400	ENSP00000364205:R860C|ENSP00000364207:R849W;ENSP00000341567:R642W;ENSP00000364203:R400W	ENSP00000364205:R860C|ENSP00000341567:R642W	R|R	-|-	1|1	0|2	TBC1D2|TBC1D2	100002357|100002357	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.940000|0.940000	0.58332|0.58332	2.983000|2.983000	0.49345|0.49345	0.441000|0.441000	0.26529|0.26529	0.511000|0.511000	0.50034|0.50034	CGC|CGG		0.537	TBC1D2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000053366.1	NM_018421	Missense_Mutation	8	18	0	0	0	1	0	8	18					A	100962536	G	A	100962536	5	1	339	1	0	0	0	0	0	0	1	0	15605	1130	39	2	216	2	TBC1D2	9	100962536	Splice_Site	SNP	G	TCGA-KK-A8IB-01A-11D-A364-08		100962536	40250895	29	17174											
ZBTB34	403341	broad.mit.edu	37	chr9	129641861	129641861	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	gctgccagctccccatatttCcgggaccattcagcgttaag	8	10	9	14	2	1	0	1	0	0	0	3	1	3	1	5	1	3	3	5	1	2	4			TCGA-KK-A8IB-01A-11D-A364-08	TCGA-KK-A8IB-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4f0563c-2660-42eb-aa93-bbe35d095334	5c82813e-861d-4893-bc6c-9cc3c0dba6c3	g.chr9:129641861C>G	ENST00000373452.2	+	1	235	c.171C>G	c.(169-171)ttC>ttG	p.F57L	ZBTB34_ENST00000319119.4_Missense_Mutation_p.F61L			Q8NCN2	ZBT34_HUMAN	zinc finger and BTB domain containing 34	57	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|large_intestine(2)|lung(2)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	12						CCCCATATTTCCGGGACCATT	0.463																																						ENST00000319119.4																			0				endometrium(3)|large_intestine(2)|lung(2)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	12						c.(181-183)ttC>ttG		zinc finger and BTB domain containing 34							118	126	123					9																	129641861		2035	4176	6211	SO:0001583	missense	403341				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:129641861C>G	DQ227306	CCDS48023.1	9q33.3	2013-01-08			ENSG00000177125	ENSG00000177125		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	31446	protein-coding gene	gene with protein product		611692				16718364	Standard	NM_001099270		Approved	KIAA1993, MGC24652, ZNF918	uc004bqm.4	Q8NCN2	OTTHUMG00000020694	ENST00000373452.2:c.171C>G	9.37:g.129641861C>G	ENSP00000362551:p.Phe57Leu					ZBTB34_ENST00000373452.2_Missense_Mutation_p.F57L	p.F61L	NM_001099270.1	NP_001092740.1	Q8NCN2	ZBT34_HUMAN			2	268	+			57			BTB.		Q38IA7|Q5VYE9	Missense_Mutation	SNP	ENST00000373452.2	37	c.183C>G	CCDS48023.1	.	.	.	.	.	.	.	.	.	.	C	17.29	3.351494	0.61183	.	.	ENSG00000177125	ENST00000319119;ENST00000373452	D;D	0.84944	-1.92;-1.92	5.53	3.66	0.41972	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.000000	0.85682	D	0.000000	D	0.85212	0.5645	M	0.74389	2.26	0.58432	D	0.999997	B	0.29301	0.241	B	0.35770	0.21	D	0.84215	0.0458	10	0.44086	T	0.13	.	12.298	0.54859	0.0:0.8035:0.0:0.1965	.	57	Q8NCN2	ZBT34_HUMAN	L	61;57	ENSP00000317534:F61L;ENSP00000362551:F57L	ENSP00000317534:F61L	F	+	3	2	ZBTB34	128681682	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.036000	0.49767	1.463000	0.47967	0.655000	0.94253	TTC		0.463	ZBTB34-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001099270		6	97	0	0	0	1	0	6	97					G	129641861	C	G	129641861	3	3	339	1	0	0	0	0	1	0	0	0	17534	854	30	5	173	5	ZBTB34	9	129641861	Missense_Mutation	SNP	C	TCGA-KK-A8IB-01A-11D-A364-08	28679325	129641861	11571570	30	17175											
TCF7L2	6934	broad.mit.edu	37	chr10	114925329	114925329	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tctaggagaaaaaaaaagtgCgttcgctacatacaaggtga	17	8	10	6	2	1	2	0	1	1	1	2	3	1	2	0	2	3	2	0	2	8	4			TCGA-KK-A8IB-01A-11D-A364-08	TCGA-KK-A8IB-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4f0563c-2660-42eb-aa93-bbe35d095334	5c82813e-861d-4893-bc6c-9cc3c0dba6c3	g.chr10:114925329C>T	ENST00000355995.4	+	15	1965	c.1458C>T	c.(1456-1458)tgC>tgT	p.C486C	TCF7L2_ENST00000466338.1_3'UTR|TCF7L2_ENST00000545257.1_Silent_p.C486C|TCF7L2_ENST00000542695.1_Silent_p.C202C|TCF7L2_ENST00000369386.1_3'UTR|TCF7L2_ENST00000543371.1_Silent_p.C469C|TCF7L2_ENST00000355717.4_Missense_Mutation_p.A469V|TCF7L2_ENST00000536810.1_Silent_p.C469C|TCF7L2_ENST00000369389.1_Missense_Mutation_p.A156V|TCF7L2_ENST00000352065.5_3'UTR|TCF7L2_ENST00000538897.1_Missense_Mutation_p.A462V|TCF7L2_ENST00000369397.4_Silent_p.C463C			Q9NQB0	TF7L2_HUMAN	transcription factor 7-like 2 (T-cell specific, HMG-box)	486	Promoter-specific activation domain.				blood vessel development (GO:0001568)|bone mineralization (GO:0030282)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in positive regulation of epithelial to mesenchymal transition (GO:0044334)|catenin import into nucleus (GO:0035411)|cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|cellular response to starvation (GO:0009267)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic genitalia morphogenesis (GO:0030538)|embryonic hindgut morphogenesis (GO:0048619)|face morphogenesis (GO:0060325)|fat cell differentiation (GO:0045444)|generation of neurons (GO:0048699)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glycogen metabolic process (GO:0005977)|insulin metabolic process (GO:1901142)|maintenance of DNA repeat elements (GO:0043570)|multicellular organism growth (GO:0035264)|myoblast fate commitment (GO:0048625)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|negative regulation of organ growth (GO:0046621)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of type B pancreatic cell apoptotic process (GO:2000675)|neural tube development (GO:0021915)|odontogenesis of dentin-containing tooth (GO:0042475)|oligodendrocyte development (GO:0014003)|pancreas development (GO:0031016)|pituitary gland development (GO:0021983)|positive regulation of apoptotic process (GO:0043065)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of gluconeogenesis (GO:0045722)|positive regulation of heparan sulfate proteoglycan biosynthetic process (GO:0010909)|positive regulation of insulin secretion (GO:0032024)|positive regulation of protein binding (GO:0032092)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of triglyceride biosynthetic process (GO:0010867)|post-embryonic development (GO:0009791)|regulation of hormone metabolic process (GO:0032350)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|regulation of myelination (GO:0031641)|regulation of oligodendrocyte differentiation (GO:0048713)|regulation of skeletal muscle tissue development (GO:0048641)|regulation of smooth muscle cell proliferation (GO:0048660)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to glucose (GO:0009749)|secretory granule localization (GO:0032252)|skin development (GO:0043588)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	beta-catenin-TCF7L2 complex (GO:0070369)|cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein-DNA complex (GO:0032993)|transcription factor complex (GO:0005667)	armadillo repeat domain binding (GO:0070016)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|gamma-catenin binding (GO:0045295)|nuclear hormone receptor binding (GO:0035257)|protein kinase binding (GO:0019901)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II repressing transcription factor binding (GO:0001103)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)		VTI1A/TCF7L2(8)	central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(24)|liver(2)|lung(8)|ovary(1)|skin(1)	41		Breast(234;0.058)|Colorectal(252;0.0615)		Epithelial(162;0.00554)|all cancers(201;0.02)		AAAAAAAGTGCGTTCGCTACA	0.527			T	VTI1A	colorectal																																	ENST00000355717.4				Dom	yes		10	10q25.3	6934	T	transcription factor 7-like 2			E	VTI1A		colorectal	VTI1A/TCF7L2(8)	0				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(24)|liver(2)|lung(8)|ovary(1)|skin(1)	41						c.(1405-1407)gCg>gTg		transcription factor 7-like 2 (T-cell specific, HMG-box)							98	106	103					10																	114925329		2203	4300	6503	SO:0001819	synonymous_variant	6934				anti-apoptosis|blood vessel development|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell cycle arrest|cell proliferation|fat cell differentiation|glucose homeostasis|maintenance of DNA repeat elements|myoblast cell fate commitment|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|pancreas development|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of insulin secretion|positive regulation of protein binding|positive regulation of protein export from nucleus|positive regulation of protein kinase B signaling cascade|positive regulation of transcription from RNA polymerase II promoter|regulation of hormone metabolic process|regulation of smooth muscle cell proliferation|response to glucose stimulus	beta-catenin-TCF7L2 complex|PML body|protein-DNA complex	armadillo repeat domain binding|beta-catenin binding|gamma-catenin binding|nuclear hormone receptor binding|protein kinase binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding	g.chr10:114925329C>T	X62871	CCDS7576.1, CCDS53578.1, CCDS55729.1, CCDS73196.1, CCDS73197.1, CCDS73198.1	10q25.3	2006-11-24			ENSG00000148737	ENSG00000148737			11641	protein-coding gene	gene with protein product		602228		TCF4		1741298	Standard	NM_001146283		Approved	TCF-4	uc001lae.4	Q9NQB0	OTTHUMG00000019070	ENST00000355995.4:c.1458C>T	10.37:g.114925329C>T						TCF7L2_ENST00000538897.1_Missense_Mutation_p.A462V|TCF7L2_ENST00000355995.4_Silent_p.C486C|TCF7L2_ENST00000369397.4_Silent_p.C463C|TCF7L2_ENST00000542695.1_Silent_p.C202C|TCF7L2_ENST00000545257.1_Silent_p.C486C|TCF7L2_ENST00000352065.5_3'UTR|TCF7L2_ENST00000543371.1_Silent_p.C469C|TCF7L2_ENST00000466338.1_3'UTR|TCF7L2_ENST00000369386.1_3'UTR|TCF7L2_ENST00000369389.1_Missense_Mutation_p.A156V|TCF7L2_ENST00000536810.1_Silent_p.C469C	p.A469V	NM_001146283.1|NM_001146286.1|NM_001198530.1	NP_001139755.1|NP_001139758.1|NP_001185459.1	Q9NQB0	TF7L2_HUMAN		Epithelial(162;0.00554)|all cancers(201;0.02)	13	1913	+		Breast(234;0.058)|Colorectal(252;0.0615)	0			Promoter-specific activation domain.		B4DRJ8|B9X074|C6ZRJ8|C6ZRK0|E2GH14|E2GH19|E2GH20|E2GH24|E2GH25|E9PFH9|F8W742|F8W7T5|O00185|Q9NQB1|Q9NQB2|Q9NQB3|Q9NQB4|Q9NQB5|Q9NQB6|Q9NQB7|Q9ULC2	Missense_Mutation	SNP	ENST00000355995.4	37	c.1406C>T		.	.	.	.	.	.	.	.	.	.	C	26.7	4.760660	0.89932	.	.	ENSG00000148737	ENST00000355717;ENST00000538897;ENST00000369389	D;D;D	0.99207	-5.54;-5.53;-5.56	5.47	5.47	0.80525	.	.	.	.	.	D	0.98738	0.9576	.	.	.	0.80722	D	1	D;B;B;B;D;B;B	0.62365	0.991;0.021;0.021;0.029;0.958;0.108;0.035	P;B;B;B;B;B;B	0.47162	0.54;0.003;0.005;0.01;0.27;0.017;0.007	D	0.99844	1.1064	8	0.59425	D	0.04	-18.1715	19.3381	0.94329	0.0:1.0:0.0:0.0	.	361;422;388;445;439;469;435	B4DWD5;B4DRJ8;C6ZRK2;B9X074;C6ZRK1;F8W7T5;Q9NQB0-10	.;.;.;.;.;.;.	V	469;462;156	ENSP00000347949:A469V;ENSP00000446172:A462V;ENSP00000358396:A156V	ENSP00000347949:A469V	A	+	2	0	TCF7L2	114915319	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.765000	0.68834	2.558000	0.86282	0.655000	0.94253	GCG		0.527	TCF7L2-203	KNOWN	basic	protein_coding	protein_coding		NM_030756		5	112	0	0	0	1	0	5	112					T	114925329	C	T	114925329	2	4	339	1	0	0	0	0	0	0	0	1	15695	777	27	1		1	TCF7L2	10	114925329	Silent	SNP	C	TCGA-KK-A8IB-01A-11D-A364-08		114925329	20609418	31	17176											
ZRANB1	54764	broad.mit.edu	37	chr10	126672053	126672053	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tatctgcctttgttgtgggaAcagagtttttgttggaaaag	9	16	12	4	0	1	1	0	0	1	1	1	3	1	3	1	2	2	3	1	2	4	6			TCGA-KK-A8IB-01A-11D-A364-08	TCGA-KK-A8IB-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4f0563c-2660-42eb-aa93-bbe35d095334	5c82813e-861d-4893-bc6c-9cc3c0dba6c3	g.chr10:126672053A>G	ENST00000359653.4	+	8	2075	c.1704A>G	c.(1702-1704)gaA>gaG	p.E568E	ZRANB1_ENST00000471421.1_3'UTR	NM_017580.2	NP_060050.2	Q9UGI0	ZRAN1_HUMAN	zinc finger, RAN-binding domain containing 1	568	OTU. {ECO:0000255|PROSITE- ProRule:PRU00139}.|TRAF-binding.				cell migration (GO:0016477)|cytoskeleton organization (GO:0007010)|positive regulation of Wnt signaling pathway (GO:0030177)|protein deubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0071947)|protein K29-linked deubiquitination (GO:0035523)|protein K33-linked deubiquitination (GO:1990168)|protein K63-linked deubiquitination (GO:0070536)|regulation of cell morphogenesis (GO:0022604)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	K63-linked polyubiquitin binding (GO:0070530)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	23		all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.172)		Colorectal(40;0.113)|COAD - Colon adenocarcinoma(40;0.119)		TGTTGTGGGAACAGAGTTTTT	0.483																																						ENST00000359653.4																			0				NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	23						c.(1702-1704)gaA>gaG		zinc finger, RAN-binding domain containing 1							204	186	192					10																	126672053		2203	4300	6503	SO:0001819	synonymous_variant	54764				positive regulation of Wnt receptor signaling pathway|protein K63-linked deubiquitination|Wnt receptor signaling pathway	aggresome|centrosome|intermediate filament cytoskeleton|nucleolus	cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity|zinc ion binding	g.chr10:126672053A>G	AJ252060	CCDS7642.1	10q26.12	2014-02-24			ENSG00000019995	ENSG00000019995		"Zinc fingers, RAN-binding domain containing", "OTU domain containing"	18224	protein-coding gene	gene with protein product		611749				11463333	Standard	NM_017580		Approved	TRABID	uc001lic.3	Q9UGI0	OTTHUMG00000019223	ENST00000359653.4:c.1704A>G	10.37:g.126672053A>G						ZRANB1_ENST00000471421.1_3'UTR	p.E568E	NM_017580.2	NP_060050.2	Q9UGI0	ZRAN1_HUMAN		Colorectal(40;0.113)|COAD - Colon adenocarcinoma(40;0.119)	8	2075	+		all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.172)	568			OTU.|TRAF-binding.		B4DZ98|D3DRF4|Q5SQP6|Q69YK3	Silent	SNP	ENST00000359653.4	37	c.1704A>G	CCDS7642.1																																																																																				0.483	ZRANB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050898.1	NM_017580		17	86	0	0	0	1	0	17	86					G	126672053	A	G	126672053	2	3	339	1	0	0	0	0	0	0	0	1	18219	40	2	4		4	ZRANB1	10	126672053	Silent	SNP	A	TCGA-KK-A8IB-01A-11D-A364-08	11746724	126672053	8862694	32	17177											
KRTAP5-1	387264	broad.mit.edu	37	chr11	1605854	1605854	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aacagcaacacacgggcacaCcgcagccggagccacagccc	13	0	10	18	3	0	0	0	0	0	0	0	1	0	1	4	2	6	3	4	2	2	0			TCGA-KK-A8IB-01A-11D-A364-08	TCGA-KK-A8IB-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4f0563c-2660-42eb-aa93-bbe35d095334	5c82813e-861d-4893-bc6c-9cc3c0dba6c3	g.chr11:1605854C>T	ENST00000382171.2	-	1	659	c.626G>A	c.(625-627)gGt>gAt	p.G209D	KRTAP5-AS1_ENST00000532922.1_RNA|KRTAP5-AS1_ENST00000534077.1_RNA|KRTAP5-AS1_ENST00000524947.1_RNA|KRTAP5-AS1_ENST00000424148.1_RNA	NM_001005922.1	NP_001005922.1	Q6L8H4	KRA51_HUMAN	keratin associated protein 5-1	209	8 X 4 AA repeats of C-C-X-P.					keratin filament (GO:0045095)				endometrium(3)|kidney(1)|lung(9)|skin(2)|upper_aerodigestive_tract(1)	16		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		CACGGGCACACCGCAGCCGGA	0.662																																						ENST00000382171.2																			0				endometrium(3)|kidney(1)|lung(9)|skin(2)|upper_aerodigestive_tract(1)	16						c.(625-627)gGt>gAt		keratin associated protein 5-1							75	83	80					11																	1605854		2202	4299	6501	SO:0001583	missense	387264					keratin filament		g.chr11:1605854C>T	AB126070	CCDS31330.1	11p15.5	2008-02-05			ENSG00000205869	ENSG00000205869		"Keratin associated proteins"	23596	protein-coding gene	gene with protein product		148022	"keratin, cuticle, ultrahigh sulphur 1-like"	KRN1L		15144888	Standard	NM_001005922		Approved	KRTAP5.1	uc001ltu.1	Q6L8H4	OTTHUMG00000057557	ENST00000382171.2:c.626G>A	11.37:g.1605854C>T	ENSP00000371606:p.Gly209Asp					KRTAP5-AS1_ENST00000524947.1_RNA|KRTAP5-AS1_ENST00000424148.1_RNA|KRTAP5-AS1_ENST00000534077.1_RNA|KRTAP5-AS1_ENST00000532922.1_RNA	p.G209D	NM_001005922.1	NP_001005922.1	Q6L8H4	KRA51_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)	1	659	-		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	209			8 X 4 AA repeats of C-C-X-P.			Missense_Mutation	SNP	ENST00000382171.2	37	c.626G>A	CCDS31330.1	.	.	.	.	.	.	.	.	.	.	c	6.627	0.484064	0.12581	.	.	ENSG00000205869	ENST00000382171	T	0.05081	3.5	3.78	2.84	0.33178	.	.	.	.	.	T	0.05686	0.0149	L	0.27053	0.805	0.09310	N	1	B	0.32160	0.358	B	0.29785	0.107	T	0.33548	-0.9864	9	0.72032	D	0.01	.	10.8656	0.46853	0.0:0.8063:0.1937:0.0	.	209	Q6L8H4	KRA51_HUMAN	D	209	ENSP00000371606:G209D	ENSP00000371606:G209D	G	-	2	0	KRTAP5-1	1562430	0.723000	0.28027	0.004000	0.12327	0.154000	0.21943	2.256000	0.43231	0.558000	0.29135	0.186000	0.17326	GGT		0.662	KRTAP5-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127922.1	NM_001005922		10	72	0	0	0	1	0	10	72					T	1605854	C	T	1605854	3	4	339	1	0	0	0	0	1	0	0	0	8558	507	18	3	214	3	KRTAP5-1	11	1605854	Missense_Mutation	SNP	C	TCGA-KK-A8IB-01A-11D-A364-08		1605854	133400662	33	17178											
CD248	57124	broad.mit.edu	37	chr11	66082816	66082816	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgagggggtagctgggcaccGagggtggtgaccagaggggc	7	5	22	7	1	0	3	0	2	0	1	0	4	0	3	2	7	1	3	2	7	1	1			TCGA-KK-A8IB-01A-11D-A364-08	TCGA-KK-A8IB-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4f0563c-2660-42eb-aa93-bbe35d095334	5c82813e-861d-4893-bc6c-9cc3c0dba6c3	g.chr11:66082816G>A	ENST00000311330.3	-	1	1699	c.1683C>T	c.(1681-1683)ctC>ctT	p.L561L	RP11-867G23.13_ENST00000534065.1_RNA	NM_020404.2	NP_065137.1	Q9HCU0	CD248_HUMAN	CD248 molecule, endosialin	561	Pro-rich.				anatomical structure regression (GO:0060033)|cell migration (GO:0016477)|lymph node development (GO:0048535)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell apoptotic process (GO:2000353)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|extracellular matrix binding (GO:0050840)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	26						GCTGGGCACCGAGGGTGGTGA	0.622																																						ENST00000311330.3																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	26						c.(1681-1683)ctC>ctT		CD248 molecule, endosialin	Cefalotin(DB00456)						91	101	98					11																	66082816		2200	4295	6495	SO:0001819	synonymous_variant	57124					integral to membrane|proteinaceous extracellular matrix	calcium ion binding|sugar binding	g.chr11:66082816G>A	AF279142	CCDS8134.1	11q13	2006-04-12	2006-03-28	2005-02-11	ENSG00000174807	ENSG00000174807		"CD molecules"	18219	protein-coding gene	gene with protein product	"endosialin", "tumor endothelial marker 1"	606064	"CD164 sialomucin-like 1", "CD248 antigen, endosialin"	CD164L1		10947988, 11084048	Standard	NM_020404		Approved	TEM1	uc001ohm.1	Q9HCU0	OTTHUMG00000167073	ENST00000311330.3:c.1683C>T	11.37:g.66082816G>A						RP11-867G23.13_ENST00000534065.1_RNA	p.L561L	NM_020404.2	NP_065137.1	Q9HCU0	CD248_HUMAN			1	1699	-			561			Pro-rich.		Q2M2V5|Q3SX55|Q96KB6	Silent	SNP	ENST00000311330.3	37	c.1683C>T	CCDS8134.1																																																																																				0.622	CD248-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392922.2	NM_020404		6	58	0	0	0	1	0	6	58					A	66082816	G	A	66082816	2	1	339	1	0	0	0	0	0	0	0	1	2989	1045	37	2		2	CD248	11	66082816	Silent	SNP	G	TCGA-KK-A8IB-01A-11D-A364-08	64476962	66082816	68923700	34	17179											
FOLR3	2352	broad.mit.edu	37	chr11	71850740	71850740	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cactccttcaaggtcagcaaCtatagtcgagggagcggccg	10	7	12	12	3	2	0	2	0	0	0	4	2	3	1	2	3	3	1	2	3	4	3			TCGA-KK-A8IB-01A-11D-A364-08	TCGA-KK-A8IB-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4f0563c-2660-42eb-aa93-bbe35d095334	5c82813e-861d-4893-bc6c-9cc3c0dba6c3	g.chr11:71850740C>G	ENST00000445078.2	+	5	794	c.723C>G	c.(721-723)aaC>aaG	p.N241K	FOLR3_ENST00000456237.1_Missense_Mutation_p.N243K|FOLR3_ENST00000442948.2_Missense_Mutation_p.N200K			P41439	FOLR3_HUMAN	folate receptor 3 (gamma)	199					folic acid transport (GO:0015884)	extracellular region (GO:0005576)|extrinsic component of membrane (GO:0019898)|membrane (GO:0016020)	folic acid binding (GO:0005542)			large_intestine(3)|lung(8)|prostate(2)	13					Folic Acid(DB00158)	AGGTCAGCAACTATAGTCGAG	0.602																																						ENST00000445078.2																			0				large_intestine(3)|lung(8)|prostate(2)	13						c.(721-723)aaC>aaG		folate receptor 3 (gamma)	Folic Acid(DB00158)						39	42	41					11																	71850740		2200	4293	6493	SO:0001583	missense	2352				folic acid transport	extracellular region|extrinsic to membrane|membrane fraction	folic acid binding|receptor activity	g.chr11:71850740C>G	U08471	CCDS73344.1	11q13.4	2012-11-14			ENSG00000110203	ENSG00000110203			3795	protein-coding gene	gene with protein product		602469				8110752	Standard	NM_000804		Approved	FR-G	uc001orx.1	P41439	OTTHUMG00000167870	ENST00000445078.2:c.723C>G	11.37:g.71850740C>G	ENSP00000390338:p.Asn241Lys					FOLR3_ENST00000456237.1_Missense_Mutation_p.N243K|FOLR3_ENST00000442948.2_Missense_Mutation_p.N200K	p.N241K			P41439	FOLR3_HUMAN			5	794	+			199					J3KQ90|Q05C14	Missense_Mutation	SNP	ENST00000445078.2	37	c.723C>G		.	.	.	.	.	.	.	.	.	.	N	7.166	0.586661	0.13749	.	.	ENSG00000110203	ENST00000445078;ENST00000456237;ENST00000442948	T;T;T	0.75821	-0.97;-0.97;-0.97	2.94	0.921	0.19403	Folate receptor-like (1);	0.631900	0.12841	U	0.434860	T	0.68732	0.3033	.	.	.	0.09310	N	1	P;B	0.43938	0.822;0.343	B;P	0.48982	0.341;0.597	T	0.57376	-0.7822	8	.	.	.	.	2.5451	0.04735	0.2337:0.4981:0.0:0.2682	.	243;199	E9PGT2;P41439	.;FOLR3_HUMAN	K	241;243;200	ENSP00000390338:N241K;ENSP00000399235:N243K;ENSP00000411161:N200K	.	N	+	3	2	FOLR3	71528388	0.000000	0.05858	0.488000	0.27440	0.009000	0.06853	-0.498000	0.06420	0.088000	0.17205	0.467000	0.42956	AAC		0.602	FOLR3-001	NOVEL	upstream_ATG|basic	protein_coding	protein_coding	OTTHUMT00000396739.1	NM_000804		4	44	0	0	0	1	0	4	44					G	71850740	C	G	71850740	3	3	339	1	0	0	0	0	1	0	0	0	5983	564	20	5	615	5	FOLR3	11	71850740	Missense_Mutation	SNP	C	TCGA-KK-A8IB-01A-11D-A364-08	5767924	71850740	63155776	35	17180											
ODZ4	26011	broad.mit.edu	37	chr11	78380595	78380595	+	Silent	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgtactcaaagatatcaccGccccgctgcctcaggaagcc	10	8	8	15	2	3	1	3	0	0	1	3	2	3	2	5	1	3	2	5	1	4	3	rs577179110	byFrequency	TCGA-KK-A8IB-01A-11D-A364-08	TCGA-KK-A8IB-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4f0563c-2660-42eb-aa93-bbe35d095334	5c82813e-861d-4893-bc6c-9cc3c0dba6c3	g.chr11:78380595G>C	ENST00000278550.7	-	32	7257	c.6795C>G	c.(6793-6795)ggC>ggG	p.G2265G		NM_001098816.2	NP_001092286.2	Q6N022	TEN4_HUMAN	teneurin transmembrane protein 4	2265					cardiac cell fate specification (GO:0060912)|cardiac muscle cell proliferation (GO:0060038)|central nervous system myelin formation (GO:0032289)|gastrulation with mouth forming second (GO:0001702)|neuron development (GO:0048666)|positive regulation of gastrulation (GO:2000543)|positive regulation of myelination (GO:0031643)|positive regulation of oligodendrocyte differentiation (GO:0048714)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|nucleus (GO:0005634)	protein homodimerization activity (GO:0042803)										AGATATCACCGCCCCGCTGCC	0.602																																						ENST00000278550.7																			0											c.(6793-6795)ggC>ggG		teneurin transmembrane protein 4							139	146	144					11																	78380595		2166	4261	6427	SO:0001819	synonymous_variant	26011							g.chr11:78380595G>C	AB037723	CCDS44688.1	11q13	2012-10-02	2012-10-02	2012-10-02		ENSG00000149256			29945	protein-coding gene	gene with protein product		610084	"odz, odd Oz/ten-m homolog 4 (Drosophila)"	ODZ4		12000766, 10625539	Standard	NM_001098816		Approved	KIAA1302, Ten-M4	uc001ozl.4	Q6N022		ENST00000278550.7:c.6795C>G	11.37:g.78380595G>C							p.G2265G	NM_001098816.2	NP_001092286.2					32	7257	-								A6ND26|Q7Z3C7|Q96MS6|Q9P2P4|Q9Y4S2	Silent	SNP	ENST00000278550.7	37	c.6795C>G	CCDS44688.1																																																																																				0.602	TENM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391406.2			5	141	0	0	0	1	0	5	141					C	78380595	G	C	78380595	2	2	339	1	0	0	0	0	0	0	0	1	10837	1074	38	5		5	ODZ4	11	78380595	Silent	SNP	G	TCGA-KK-A8IB-01A-11D-A364-08	6529855	78380595	56625921	36	17181											
C11orf73	51501	broad.mit.edu	37	chr11	86055702	86055702	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cttcatcatttgctgtctctCaggcccagatgacaccaagc	9	11	7	14	0	4	2	3	1	1	1	5	2	4	2	2	1	2	1	2	1	1	2			TCGA-KK-A8IB-01A-11D-A364-08	TCGA-KK-A8IB-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4f0563c-2660-42eb-aa93-bbe35d095334	5c82813e-861d-4893-bc6c-9cc3c0dba6c3	g.chr11:86055702C>T	ENST00000278483.3	+	4	704	c.478C>T	c.(478-480)Cag>Tag	p.Q160*	C11orf73_ENST00000530208.1_3'UTR|C11orf73_ENST00000533986.1_Nonsense_Mutation_p.Q160*	NM_016401.3	NP_057485.2	Q53FT3	HIKES_HUMAN	chromosome 11 open reading frame 73	160					cellular response to heat (GO:0034605)|Golgi organization (GO:0007030)|lung development (GO:0030324)|protein import into nucleus (GO:0006606)|protein transport (GO:0015031)	cell junction (GO:0030054)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|nucleus (GO:0005634)	Hsp70 protein binding (GO:0030544)|protein transporter activity (GO:0008565)			kidney(1)|large_intestine(1)|urinary_tract(1)	3		Acute lymphoblastic leukemia(157;1.17e-07)|all_hematologic(158;0.000556)				TGCTGTCTCTCAGGCCCAGAT	0.358																																						ENST00000533986.1																			0				kidney(1)|large_intestine(1)|urinary_tract(1)	3						c.(478-480)Cag>Tag		chromosome 11 open reading frame 73							82	78	79					11																	86055702		2202	4299	6501	SO:0001587	stop_gained	51501					cytoplasm		g.chr11:86055702C>T	BC015991	CCDS8275.1	11q14.2	2013-03-12			ENSG00000149196	ENSG00000149196			26938	protein-coding gene	gene with protein product		614908				11042152, 22541429	Standard	NM_016401		Approved	HSPC138, HSPC179, Hikeshi, OPI10	uc001pbu.3	Q53FT3	OTTHUMG00000167212	ENST00000278483.3:c.478C>T	11.37:g.86055702C>T	ENSP00000278483:p.Gln160*					C11orf73_ENST00000530208.1_3'UTR|C11orf73_ENST00000278483.3_Nonsense_Mutation_p.Q160*	p.Q160*			Q53FT3	CK073_HUMAN			4	716	+		Acute lymphoblastic leukemia(157;1.17e-07)|all_hematologic(158;0.000556)	160					Q8WVE8|Q9NVQ2|Q9NZZ1|Q9P022|Q9P0N1	Nonsense_Mutation	SNP	ENST00000278483.3	37	c.478C>T	CCDS8275.1	.	.	.	.	.	.	.	.	.	.	C	37	6.474987	0.97598	.	.	ENSG00000149196	ENST00000533986;ENST00000278483	.	.	.	5.95	5.95	0.96441	.	0.051612	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-21.8925	20.0128	0.97467	0.0:1.0:0.0:0.0	.	.	.	.	X	160	.	.	Q	+	1	0	C11orf73	85733350	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.174000	0.77620	2.827000	0.97445	0.650000	0.86243	CAG		0.358	C11orf73-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393747.1	NM_016401		5	70	0	0	0	1	0	5	70					T	86055702	C	T	86055702	4	4	339	1	0	0	0	0	0	1	0	0	1661	827	29	3	492	3	C11orf73	11	86055702	Nonsense_Mutation	SNP	C	TCGA-KK-A8IB-01A-11D-A364-08	7675107	86055702	48950814	37	17182											
KIRREL3	84623	broad.mit.edu	37	chr11	126432745	126432745	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctgaccttcattcattctccGaaacttgtccttggccatgt	7	15	6	13	1	3	1	2	1	1	0	5	2	4	1	4	1	1	0	4	1	1	5	rs119462978		TCGA-KK-A8IB-01A-11D-A364-08	TCGA-KK-A8IB-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4f0563c-2660-42eb-aa93-bbe35d095334	5c82813e-861d-4893-bc6c-9cc3c0dba6c3	g.chr11:126432745G>A	ENST00000525144.2	-	2	367	c.118C>T	c.(118-120)Cgg>Tgg	p.R40W	KIRREL3_ENST00000533026.2_5'UTR|KIRREL3_ENST00000525704.2_Missense_Mutation_p.R40W|KIRREL3-AS1_ENST00000548204.1_RNA|KIRREL3_ENST00000529097.2_Missense_Mutation_p.R40W	NM_032531.3	NP_115920.1	Q8IZU9	KIRR3_HUMAN	kin of IRRE like 3 (Drosophila)	40			R -> W (in MRD4). {ECO:0000269|PubMed:19012874}.		hemopoiesis (GO:0030097)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				central_nervous_system(1)|endometrium(5)|large_intestine(11)|lung(8)|ovary(3)|prostate(1)	29	all_hematologic(175;0.145)	Lung NSC(97;0.0484)|all_lung(97;0.0522)|Medulloblastoma(222;0.0523)|Breast(109;0.0949)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;6.03e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.12)		TTCATTCTCCGAAACTTGTCC	0.547																																						ENST00000525144.2																			0				central_nervous_system(1)|endometrium(5)|large_intestine(11)|lung(8)|ovary(3)|prostate(1)	29	GRCh37	CM086843	KIRREL3	M	rs119462978	c.(118-120)Cgg>Tgg		kin of IRRE like 3 (Drosophila)		G	TRP/ARG,TRP/ARG	0,3888		0,0,1944	120	114	116	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	118,118	5.5	1	11	dbSNP_132	116	2,8286		0,2,4142	no	missense,missense	KIRREL3	NM_001161707.1,NM_032531.3	101,101	0,2,6086	AA,AG,GG		0.0241,0.0,0.0164	probably-damaging,probably-damaging	40/601,40/779	126432745	2,12174	1944	4144	6088	SO:0001583	missense	84623				hemopoiesis	extracellular region|integral to membrane|plasma membrane	protein binding	g.chr11:126432745G>A	AB058770	CCDS53723.1, CCDS55796.1, CCDS73413.1	11q24	2013-01-29			ENSG00000149571	ENSG00000149571		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	23204	protein-coding gene	gene with protein product		607761				12424224, 11347906	Standard	NM_032531		Approved	NEPH2, KIAA1867, KIRRE	uc001qea.3	Q8IZU9	OTTHUMG00000165831	ENST00000525144.2:c.118C>T	11.37:g.126432745G>A	ENSP00000435466:p.Arg40Trp					KIRREL3_ENST00000525704.2_Missense_Mutation_p.R40W|KIRREL3_ENST00000533026.2_5'UTR|KIRREL3_ENST00000529097.2_Missense_Mutation_p.R40W|KIRREL3-AS1_ENST00000548204.1_RNA	p.R40W	NM_032531.3	NP_115920.1	Q8IZU9	KIRR3_HUMAN		BRCA - Breast invasive adenocarcinoma(274;6.03e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.12)	2	367	-	all_hematologic(175;0.145)	Lung NSC(97;0.0484)|all_lung(97;0.0522)|Medulloblastoma(222;0.0523)|Breast(109;0.0949)|all_neural(223;0.224)	40		R -> W (in MRD4).			Q3MIJ7|Q6UWJ9|Q6UWL5|Q96JG0	Missense_Mutation	SNP	ENST00000525144.2	37	c.118C>T	CCDS53723.1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.349507	0.82132	0.0	2.41E-4	ENSG00000149571	ENST00000525144;ENST00000529097;ENST00000525704	T;T;T	0.72167	-0.63;-0.4;-0.5	5.47	5.47	0.80525	.	0.000000	0.52532	D	0.000071	T	0.70605	0.3243	N	0.08118	0	0.80722	A	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.79784	0.992;0.993;0.973	T	0.74722	-0.3569	9	0.37606	T	0.19	.	17.5197	0.87783	0.0:0.0:1.0:0.0	.	40;40;40	Q8IZU9-2;E9PRX9;Q8IZU9	.;.;KIRR3_HUMAN	W	40	ENSP00000435466:R40W;ENSP00000434081:R40W;ENSP00000435094:R40W	ENSP00000435466:R40W	R	-	1	2	KIRREL3	125937955	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.408000	0.59761	2.569000	0.86673	0.650000	0.86243	CGG		0.547	KIRREL3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386479.2	NM_032531		12	36	0	0	0	1	0	12	36					A	126432745	G	A	126432745	3	1	339	1	0	0	0	0	1	0	0	0	8326	1057	37	2	2389	2	KIRREL3	11	126432745	Missense_Mutation	SNP	G	TCGA-KK-A8IB-01A-11D-A364-08	40377043	126432745	8573771	38	17183											
TM7SF3	51768	broad.mit.edu	37	chr12	27152541	27152541	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aagtaccaagtgcatgtactCtgctctggtctaaggatgaa	12	11	10	8	0	3	1	0	1	3	0	3	2	3	2	1	2	4	4	1	2	6	3	rs201828931		TCGA-KK-A8IB-01A-11D-A364-08	TCGA-KK-A8IB-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4f0563c-2660-42eb-aa93-bbe35d095334	5c82813e-861d-4893-bc6c-9cc3c0dba6c3	g.chr12:27152541C>T	ENST00000343028.4	-	3	540	c.315G>A	c.(313-315)caG>caA	p.Q105Q	TM7SF3_ENST00000542667.1_5'UTR	NM_016551.2	NP_057635.1	Q9NS93	TM7S3_HUMAN	transmembrane 7 superfamily member 3	105						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	18	Colorectal(261;0.0847)					TGCATGTACTCTGCTCTGGTC	0.473																																						ENST00000343028.4																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	18						c.(313-315)caG>caA		transmembrane 7 superfamily member 3							157	138	145					12																	27152541		2203	4300	6503	SO:0001819	synonymous_variant	51768					integral to membrane|plasma membrane		g.chr12:27152541C>T	AB032470	CCDS8710.1	12q11-q12	2012-08-10			ENSG00000064115	ENSG00000064115			23049	protein-coding gene	gene with protein product		605181				10828615	Standard	NM_016551		Approved		uc010sjl.2	Q9NS93	OTTHUMG00000169243	ENST00000343028.4:c.315G>A	12.37:g.27152541C>T						TM7SF3_ENST00000542667.1_5'UTR	p.Q105Q	NM_016551.2	NP_057635.1	Q9NS93	TM7S3_HUMAN			3	540	-	Colorectal(261;0.0847)		105					B3KMZ3|Q9NUS4	Silent	SNP	ENST00000343028.4	37	c.315G>A	CCDS8710.1																																																																																				0.473	TM7SF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403033.1	NM_016551		12	30	0	0	0	1	0	12	30					T	27152541	C	T	27152541	2	4	339	1	0	0	0	0	0	0	0	1	15972	912	32	3		3	TM7SF3	12	27152541	Silent	SNP	C	TCGA-KK-A8IB-01A-11D-A364-08		27152541	106699354	39	17184											
MLL2	8085	broad.mit.edu	37	chr12	49420696	49420696	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttgtcaggtcgcaaggctGtgccaagctgctccataaac	9	9	10	13	1	1	0	1	0	0	0	3	0	2	0	3	2	4	4	3	2	4	2			TCGA-KK-A8IB-01A-11D-A364-08	TCGA-KK-A8IB-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4f0563c-2660-42eb-aa93-bbe35d095334	5c82813e-861d-4893-bc6c-9cc3c0dba6c3	g.chr12:49420696G>A	ENST00000301067.7	-	48	15052	c.15053C>T	c.(15052-15054)aCa>aTa	p.T5018I		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	5018					chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)										TCGCAAGGCTGTGCCAAGCTG	0.627																																						ENST00000301067.7																			0											c.(15052-15054)aCa>aTa		lysine (K)-specific methyltransferase 2D							57	61	60					12																	49420696		2160	4266	6426	SO:0001583	missense	8085							g.chr12:49420696G>A	AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	7133	protein-coding gene	gene with protein product		602113	"trinucleotide repeat containing 21", "myeloid/lymphoid or mixed-lineage leukemia 2"	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.15053C>T	12.37:g.49420696G>A	ENSP00000301067:p.Thr5018Ile						p.T5018I	NM_003482.3	NP_003473.3					48	15052	-								O14687	Missense_Mutation	SNP	ENST00000301067.7	37	c.15053C>T	CCDS44873.1	.	.	.	.	.	.	.	.	.	.	G	11.08	1.534882	0.27475	.	.	ENSG00000167548	ENST00000301067	T	0.78003	-1.14	4.34	4.34	0.51931	.	0.000000	0.37530	N	0.002042	T	0.63558	0.2521	N	0.11698	0.16	0.40019	D	0.975388	B	0.25521	0.128	B	0.22386	0.039	T	0.66913	-0.5803	10	0.87932	D	0	.	16.1502	0.81611	0.0:0.0:1.0:0.0	.	5018	O14686	MLL2_HUMAN	I	5018	ENSP00000301067:T5018I	ENSP00000301067:T5018I	T	-	2	0	MLL2	47706963	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.140000	0.64807	2.425000	0.82216	0.655000	0.94253	ACA		0.627	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2			6	54	0	0	0	1	0	6	54					A	49420696	G	A	49420696	3	1	339	1	0	0	0	0	1	0	0	0	9621	1377	48	3	1588	3	MLL2	12	49420696	Missense_Mutation	SNP	G	TCGA-KK-A8IB-01A-11D-A364-08	22268155	49420696	84431199	40	17185											
MLL2	8085	broad.mit.edu	37	chr12	49420990	49420990	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tggcaggagaaggtgccaagGgggaagggggcggggagggt	9	3	25	4	1	0	1	0	0	0	1	0	4	0	3	1	10	1	1	1	10	3	0			TCGA-KK-A8IB-01A-11D-A364-08	TCGA-KK-A8IB-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4f0563c-2660-42eb-aa93-bbe35d095334	5c82813e-861d-4893-bc6c-9cc3c0dba6c3	g.chr12:49420990G>C	ENST00000301067.7	-	48	14758	c.14759C>G	c.(14758-14760)cCc>cGc	p.P4920R		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	4920	Pro-rich.				chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)										AGGTGCCAAGGGGGAAGGGGG	0.627																																						ENST00000301067.7																			0											c.(14758-14760)cCc>cGc		lysine (K)-specific methyltransferase 2D							37	43	41					12																	49420990		1848	4046	5894	SO:0001583	missense	8085							g.chr12:49420990G>C	AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	7133	protein-coding gene	gene with protein product		602113	"trinucleotide repeat containing 21", "myeloid/lymphoid or mixed-lineage leukemia 2"	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.14759C>G	12.37:g.49420990G>C	ENSP00000301067:p.Pro4920Arg						p.P4920R	NM_003482.3	NP_003473.3					48	14758	-								O14687	Missense_Mutation	SNP	ENST00000301067.7	37	c.14759C>G	CCDS44873.1	.	.	.	.	.	.	.	.	.	.	G	9.162	1.019044	0.19355	.	.	ENSG00000167548	ENST00000301067	T	0.81078	-1.45	4.21	3.32	0.38043	.	0.000000	0.33916	N	0.004430	D	0.84906	0.5576	L	0.52011	1.625	0.47094	D	0.999314	D	0.76494	0.999	D	0.70716	0.97	D	0.85544	0.1217	10	0.87932	D	0	.	11.2213	0.48857	0.0921:0.0:0.9079:0.0	.	4920	O14686	MLL2_HUMAN	R	4920	ENSP00000301067:P4920R	ENSP00000301067:P4920R	P	-	2	0	MLL2	47707257	.	.	0.999000	0.59377	0.998000	0.95712	.	.	1.128000	0.42052	0.650000	0.86243	CCC		0.627	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2			7	48	0	0	0	1	0	7	48					C	49420990	G	C	49420990	3	2	339	1	0	0	0	0	1	0	0	0	9621	1232	43	5	1882	5	MLL2	12	49420990	Missense_Mutation	SNP	G	TCGA-KK-A8IB-01A-11D-A364-08	294	49420990	84430905	41	17186											
MORN3	283385	broad.mit.edu	37	chr12	122107369	122107369	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacagggactccgactttttTgggcacttagagactggcat	9	11	11	10	1	0	1	0	0	0	1	1	4	1	2	1	3	0	2	1	3	1	4			TCGA-KK-A8IB-01A-11D-A364-08	TCGA-KK-A8IB-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4f0563c-2660-42eb-aa93-bbe35d095334	5c82813e-861d-4893-bc6c-9cc3c0dba6c3	g.chr12:122107369T>C	ENST00000355329.3	-	1	191	c.21A>G	c.(19-21)ccA>ccG	p.P7P		NM_173855.4	NP_776254.3	Q6PF18	MORN3_HUMAN	MORN repeat containing 3	7						nucleus (GO:0005634)				breast(2)|large_intestine(1)|lung(4)|skin(1)|stomach(1)	9	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000409)|Epithelial(86;0.00145)		CCGACTTTTTTGGGCACTTAG	0.617																																						ENST00000355329.3																			0				breast(2)|large_intestine(1)|lung(4)|skin(1)|stomach(1)	9						c.(19-21)ccA>ccG		MORN repeat containing 3							120	114	116					12																	122107369		2203	4300	6503	SO:0001819	synonymous_variant	283385							g.chr12:122107369T>C	BC057760	CCDS31917.1	12q24.31	2006-01-17			ENSG00000139714	ENSG00000139714			29807	protein-coding gene	gene with protein product							Standard	NM_173855		Approved		uc001uax.3	Q6PF18	OTTHUMG00000169075	ENST00000355329.3:c.21A>G	12.37:g.122107369T>C							p.P7P	NM_173855.4	NP_776254.3	Q6PF18	MORN3_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000409)|Epithelial(86;0.00145)	1	191	-	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)		7					Q86YQ9	Silent	SNP	ENST00000355329.3	37	c.21A>G	CCDS31917.1																																																																																				0.617	MORN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402154.1	NM_173855		7	89	0	0	0	1	0	7	89					C	122107369	T	C	122107369	2	2	339	1	0	0	0	0	0	0	0	1	9709	1799	63	4		4	MORN3	12	122107369	Silent	SNP	T	TCGA-KK-A8IB-01A-11D-A364-08	72686379	122107369	11744526	42	17187											
STARD13	90627	broad.mit.edu	37	chr13	33703513	33703513	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	caccagggacctgctctctgCccagggagatgctaccggtc	7	7	12	15	1	1	1	0	0	1	1	3	3	1	2	4	3	4	2	4	3	1	1			TCGA-KK-A8IB-01A-11D-A364-08	TCGA-KK-A8IB-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4f0563c-2660-42eb-aa93-bbe35d095334	5c82813e-861d-4893-bc6c-9cc3c0dba6c3	g.chr13:33703513C>T	ENST00000336934.5	-	5	1417	c.1301G>A	c.(1300-1302)gGc>gAc	p.G434D	STARD13_ENST00000399365.3_Missense_Mutation_p.G316D|STARD13_ENST00000255486.4_Missense_Mutation_p.G426D	NM_001243476.1|NM_178006.3	NP_001230405.1|NP_821074.1	Q9Y3M8	STA13_HUMAN	StAR-related lipid transfer (START) domain containing 13	434					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|lipid particle (GO:0005811)|membrane (GO:0016020)|mitochondrion (GO:0005739)	GTPase activator activity (GO:0005096)|lipid binding (GO:0008289)			breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	40	all_epithelial(80;0.155)	Lung SC(185;0.0367)		all cancers(112;1.31e-05)|Epithelial(112;0.000142)|BRCA - Breast invasive adenocarcinoma(63;0.00936)|OV - Ovarian serous cystadenocarcinoma(117;0.0533)|Lung(94;0.143)|GBM - Glioblastoma multiforme(144;0.143)		CTGCTCTCTGCCCAGGGAGAT	0.567																																						ENST00000336934.5																			0				breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	40						c.(1300-1302)gGc>gAc		StAR-related lipid transfer (START) domain containing 13							43	45	44					13																	33703513		2203	4300	6503	SO:0001583	missense	90627				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|lipid particle|mitochondrial membrane	GTPase activator activity|protein binding	g.chr13:33703513C>T	AL049801	CCDS9348.1, CCDS9349.1, CCDS9350.1	13q13.1	2013-08-13	2007-08-16		ENSG00000133121	ENSG00000133121		"Rho GTPase activating proteins", "StAR-related lipid transfer (START) domain containing"	19164	protein-coding gene	gene with protein product		609866	"START domain containing 13", "long intergenic non-protein coding RNA 464"	LINC00464		8812419	Standard	NM_178006		Approved	GT650, DLC2, ARHGAP37	uc001uuw.3	Q9Y3M8	OTTHUMG00000016708	ENST00000336934.5:c.1301G>A	13.37:g.33703513C>T	ENSP00000338785:p.Gly434Asp					STARD13_ENST00000255486.4_Missense_Mutation_p.G426D|STARD13_ENST00000399365.3_Missense_Mutation_p.G316D	p.G434D	NM_001243476.1|NM_178006.3	NP_001230405.1|NP_821074.1	Q9Y3M8	STA13_HUMAN		all cancers(112;1.31e-05)|Epithelial(112;0.000142)|BRCA - Breast invasive adenocarcinoma(63;0.00936)|OV - Ovarian serous cystadenocarcinoma(117;0.0533)|Lung(94;0.143)|GBM - Glioblastoma multiforme(144;0.143)	5	1417	-	all_epithelial(80;0.155)	Lung SC(185;0.0367)	434					A2A309|A2A310|Q5HYH1|Q5TAE3|Q6UN61|Q86TP6|Q86WQ3|Q86XT1	Missense_Mutation	SNP	ENST00000336934.5	37	c.1301G>A	CCDS9348.1	.	.	.	.	.	.	.	.	.	.	C	0.013	-1.623726	0.00820	.	.	ENSG00000133121	ENST00000399365;ENST00000255486;ENST00000336934;ENST00000399364	T;T;T	0.06933	3.24;3.25;3.25	5.73	4.89	0.63831	.	0.141820	0.64402	D	0.000004	T	0.11750	0.0286	M	0.71581	2.175	0.80722	D	1	B;B;B;B	0.21520	0.057;0.007;0.009;0.007	B;B;B;B	0.27608	0.081;0.029;0.013;0.019	T	0.05954	-1.0854	10	0.13853	T	0.58	.	11.7598	0.51896	0.0:0.8585:0.0:0.1415	.	426;399;434;426	Q9Y3M8-5;Q9Y3M8-4;Q9Y3M8;Q9Y3M8-2	.;.;STA13_HUMAN;.	D	316;426;434;426	ENSP00000382300:G316D;ENSP00000255486:G426D;ENSP00000338785:G434D	ENSP00000255486:G426D	G	-	2	0	STARD13	32601513	1.000000	0.71417	0.986000	0.45419	0.037000	0.13140	3.382000	0.52463	1.425000	0.47237	0.655000	0.94253	GGC		0.567	STARD13-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276118.2	NM_001243466		3	31	0	0	0	1	0	3	31					T	33703513	C	T	33703513	3	4	339	1	0	0	0	0	1	0	0	0	15255	739	26	3	2080	3	STARD13	13	33703513	Missense_Mutation	SNP	C	TCGA-KK-A8IB-01A-11D-A364-08		33703513	81466365	43	17188											
ZC3H13	23091	broad.mit.edu	37	chr13	46542010	46542010	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccattctctctgcctcgtaTctctcctctctctctcgcgc	2	15	4	20	3	5	0	0	0	5	0	12	0	6	0	3	0	1	1	3	0	1	2			TCGA-KK-A8IB-01A-11D-A364-08	TCGA-KK-A8IB-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4f0563c-2660-42eb-aa93-bbe35d095334	5c82813e-861d-4893-bc6c-9cc3c0dba6c3	g.chr13:46542010T>A	ENST00000242848.4	-	15	4298	c.3950A>T	c.(3949-3951)gAt>gTt	p.D1317V	ZC3H13_ENST00000282007.3_Missense_Mutation_p.D1317V|ZC3H13_ENST00000378921.2_Missense_Mutation_p.D273V			Q5T200	ZC3HD_HUMAN	zinc finger CCCH-type containing 13	1317							metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|lung(25)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	79		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;4.18e-05)		ctgcctcgtatctctcctctc	0.502																																					Esophageal Squamous(187;747 2077 11056 31291 44172)	ENST00000242848.4																			0				cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|lung(25)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	79						c.(3949-3951)gAt>gTt		zinc finger CCCH-type containing 13							310	213	246					13																	46542010		2203	4300	6503	SO:0001583	missense	23091						nucleic acid binding|zinc ion binding	g.chr13:46542010T>A	AB020660	CCDS9400.1	13q14.11	2012-07-05	2006-05-15	2006-05-15	ENSG00000123200	ENSG00000123200		"Zinc fingers, CCCH-type domain containing"	20368	protein-coding gene	gene with protein product			"KIAA0853"	KIAA0853		10048485	Standard	XM_005266301		Approved	DKFZp434D1812	uc001vas.1	Q5T200	OTTHUMG00000016863	ENST00000242848.4:c.3950A>T	13.37:g.46542010T>A	ENSP00000242848:p.Asp1317Val					ZC3H13_ENST00000378921.2_Missense_Mutation_p.D273V|ZC3H13_ENST00000282007.3_Missense_Mutation_p.D1317V	p.D1317V			Q5T200	ZC3HD_HUMAN	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;4.18e-05)	15	4298	-		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	1317					A2A323|O94936|Q5T1Z9|Q7Z7J3|Q8NDT6|Q9H0L6	Missense_Mutation	SNP	ENST00000242848.4	37	c.3950A>T		.	.	.	.	.	.	.	.	.	.	T	13.89	2.373511	0.42105	.	.	ENSG00000123200	ENST00000242848;ENST00000378921;ENST00000282007	T;T;T	0.35421	2.31;2.01;1.31	4.98	4.98	0.66077	.	0.108239	0.40064	N	0.001185	T	0.28366	0.0701	L	0.36672	1.1	0.80722	D	1	B;B	0.16802	0.011;0.019	B;B	0.18263	0.009;0.021	T	0.07462	-1.0771	10	0.42905	T	0.14	.	9.9729	0.41765	0.1513:0.0:0.0:0.8487	.	1317;1317	Q5T200;Q5T200-2	ZC3HD_HUMAN;.	V	1317;273;1317	ENSP00000242848:D1317V;ENSP00000368201:D273V;ENSP00000282007:D1317V	ENSP00000242848:D1317V	D	-	2	0	ZC3H13	45440011	0.999000	0.42202	0.892000	0.35008	0.692000	0.40212	3.480000	0.53172	1.992000	0.58205	0.482000	0.46254	GAT		0.502	ZC3H13-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000044789.1	NM_015070		17	58	0	0	0	1	0	17	58					A	46542010	T	A	46542010	3	1	339	1	0	0	0	0	1	0	0	0	17562	1435	50	5	756	5	ZC3H13	13	46542010	Missense_Mutation	SNP	T	TCGA-KK-A8IB-01A-11D-A364-08	12838497	46542010	68627868	44	17189											
FOXA1	3169	broad.mit.edu	37	chr14	38061231	38061231	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtagcagccgttctcgaacAtgttgccggagtccgggtgc	7	9	14	11	4	1	0	0	0	1	0	3	2	2	1	3	2	5	4	3	2	2	3			TCGA-KK-A8IB-01A-11D-A364-08	TCGA-KK-A8IB-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4f0563c-2660-42eb-aa93-bbe35d095334	5c82813e-861d-4893-bc6c-9cc3c0dba6c3	g.chr14:38061231A>T	ENST00000250448.2	-	2	819	c.758T>A	c.(757-759)aTg>aAg	p.M253K	FOXA1_ENST00000540786.1_Missense_Mutation_p.M220K|FOXA1_ENST00000545425.2_5'UTR	NM_004496.3	NP_004487.2	P55317	FOXA1_HUMAN	forkhead box A1	253					anatomical structure formation involved in morphogenesis (GO:0048646)|chromatin remodeling (GO:0006338)|dorsal/ventral neural tube patterning (GO:0021904)|epithelial cell maturation involved in prostate gland development (GO:0060743)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|epithelial-mesenchymal signaling involved in prostate gland development (GO:0060738)|glucose homeostasis (GO:0042593)|hormone metabolic process (GO:0042445)|lung epithelial cell differentiation (GO:0060487)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron fate specification (GO:0048665)|positive regulation of cell-cell adhesion mediated by cadherin (GO:2000049)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prostate gland epithelium morphogenesis (GO:0060740)|prostate gland stromal morphogenesis (GO:0060741)|response to estradiol (GO:0032355)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)	microvillus (GO:0005902)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)	p.M253R(2)|p.M253K(2)		breast(1)|endometrium(1)|large_intestine(2)|lung(3)|prostate(12)	19	Breast(36;0.0954)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		Lung(238;5.41e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0454)|LUSC - Lung squamous cell carcinoma(13;0.0917)|all cancers(34;0.0925)|BRCA - Breast invasive adenocarcinoma(188;0.239)	GBM - Glioblastoma multiforme(112;0.0222)		GTTCTCGAACATGTTGCCGGA	0.687																																						ENST00000250448.2																			4	Substitution - Missense(4)	p.M253R(2)|p.M253K(2)	prostate(4)	breast(1)|endometrium(1)|large_intestine(2)|lung(3)|prostate(12)	19						c.(757-759)aTg>aAg		forkhead box A1							26	26	26					14																	38061231		2203	4300	6503	SO:0001583	missense	3169				chromatin remodeling|embryo development|epithelial cell maturation involved in prostate gland development|epithelial tube branching involved in lung morphogenesis|epithelial-mesenchymal signaling involved in prostate gland development|glucose homeostasis|lung epithelial cell differentiation|negative regulation of survival gene product expression|neuron fate specification|pattern specification process|positive regulation of estrogen receptor signaling pathway|positive regulation of mitotic cell cycle|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|prostate gland epithelium morphogenesis|prostate gland stromal morphogenesis|response to estradiol stimulus|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development	transcription factor complex	DNA bending activity|double-stranded DNA binding|protein domain specific binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding	g.chr14:38061231A>T	U39840	CCDS9665.1	14q12-q13	2008-04-10		2002-09-20	ENSG00000129514	ENSG00000129514		"Forkhead boxes"	5021	protein-coding gene	gene with protein product		602294	"hepatocyte nuclear factor 3, alpha"	HNF3A		9119385, 8652662	Standard	NM_004496		Approved		uc001wuf.4	P55317	OTTHUMG00000140253	ENST00000250448.2:c.758T>A	14.37:g.38061231A>T	ENSP00000250448:p.Met253Lys					FOXA1_ENST00000540786.1_Missense_Mutation_p.M220K|FOXA1_ENST00000545425.2_5'UTR	p.M253K	NM_004496.3	NP_004487.2	P55317	FOXA1_HUMAN	Lung(238;5.41e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0454)|LUSC - Lung squamous cell carcinoma(13;0.0917)|all cancers(34;0.0925)|BRCA - Breast invasive adenocarcinoma(188;0.239)	GBM - Glioblastoma multiforme(112;0.0222)	2	819	-	Breast(36;0.0954)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		253					B2R9H6|B7ZAP5|Q9H2A0	Missense_Mutation	SNP	ENST00000250448.2	37	c.758T>A	CCDS9665.1	.	.	.	.	.	.	.	.	.	.	A	23.9	4.472339	0.84533	.	.	ENSG00000129514	ENST00000250448;ENST00000540786	D;D	0.95103	-3.61;-3.61	3.92	3.92	0.45320	Winged helix-turn-helix transcription repressor DNA-binding (1);Transcription factor, fork head (3);	0.000000	0.85682	D	0.000000	D	0.96651	0.8907	M	0.77486	2.375	0.80722	D	1	D	0.71674	0.998	D	0.87578	0.998	D	0.96875	0.9642	10	0.87932	D	0	.	11.8486	0.52399	1.0:0.0:0.0:0.0	.	253	P55317	FOXA1_HUMAN	K	253;220	ENSP00000250448:M253K;ENSP00000440178:M220K	ENSP00000250448:M253K	M	-	2	0	FOXA1	37130982	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.933000	0.92911	1.648000	0.50643	0.329000	0.21502	ATG		0.687	FOXA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276735.1			4	34	0	0	0	1	0	4	34					T	38061231	A	T	38061231	3	4	339	1	0	0	0	0	1	0	0	0	5989	217	8	5	664	5	FOXA1	14	38061231	Missense_Mutation	SNP	A	TCGA-KK-A8IB-01A-11D-A364-08		38061231	69288309	45	17190											
LTBP2	4053	broad.mit.edu	37	chr14	75022226	75022226	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccagggggatgaggggtgcTccagaggtaccgcctgttgg	6	7	18	10	1	0	2	0	1	0	1	1	3	1	3	4	6	2	3	4	6	1	2			TCGA-KK-A8IB-01A-11D-A364-08	TCGA-KK-A8IB-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4f0563c-2660-42eb-aa93-bbe35d095334	5c82813e-861d-4893-bc6c-9cc3c0dba6c3	g.chr14:75022226T>C	ENST00000261978.4	-	4	1387	c.1001A>G	c.(1000-1002)gAg>gGg	p.E334G	CTD-2207P18.1_ENST00000554552.1_lincRNA|LTBP2_ENST00000556690.1_Missense_Mutation_p.E334G|LTBP2_ENST00000557425.1_Intron	NM_000428.2	NP_000419.1	Q14767	LTBP2_HUMAN	latent transforming growth factor beta binding protein 2	334					protein secretion (GO:0009306)|protein targeting (GO:0006605)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)		TGAGGGGTGCTCCAGAGGTAC	0.632																																						ENST00000261978.4																			0				breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						c.(1000-1002)gAg>gGg		latent transforming growth factor beta binding protein 2							95	87	90					14																	75022226		2203	4300	6503	SO:0001583	missense	4053				protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|growth factor binding	g.chr14:75022226T>C		CCDS9831.1	14q24.3	2011-10-20	2001-12-04			ENSG00000119681		"Latent transforming growth factor, beta binding proteins"	6715	protein-coding gene	gene with protein product		602091	"chromosome 14 open reading frame 141"	LTBP3, C14orf141		7798248	Standard	NM_000428		Approved		uc001xqa.3	Q14767		ENST00000261978.4:c.1001A>G	14.37:g.75022226T>C	ENSP00000261978:p.Glu334Gly					CTD-2207P18.1_ENST00000554552.1_lincRNA|LTBP2_ENST00000557425.1_Intron|LTBP2_ENST00000556690.1_Missense_Mutation_p.E334G	p.E334G	NM_000428.2	NP_000419.1	Q14767	LTBP2_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)	4	1387	-			334					Q99907|Q9NS51	Missense_Mutation	SNP	ENST00000261978.4	37	c.1001A>G	CCDS9831.1	.	.	.	.	.	.	.	.	.	.	t	3.197	-0.164535	0.06502	.	.	ENSG00000119681	ENST00000261978;ENST00000556690	T;T	0.79141	-1.23;-1.24	4.7	0.873	0.19118	.	0.925490	0.08846	N	0.885149	T	0.59238	0.2179	N	0.19112	0.55	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.38779	-0.9645	10	0.11485	T	0.65	.	7.5637	0.27866	0.0:0.2796:0.0:0.7204	.	334	Q14767	LTBP2_HUMAN	G	334	ENSP00000261978:E334G;ENSP00000451477:E334G	ENSP00000261978:E334G	E	-	2	0	LTBP2	74091979	0.866000	0.29940	0.220000	0.23810	0.096000	0.18686	0.359000	0.20233	0.305000	0.22832	0.454000	0.30748	GAG		0.632	LTBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413595.1	NM_000428		10	62	0	0	0	1	0	10	62					C	75022226	T	C	75022226	3	2	339	1	0	0	0	0	1	0	0	0	9074	1551	54	4	4596	4	LTBP2	14	75022226	Missense_Mutation	SNP	T	TCGA-KK-A8IB-01A-11D-A364-08	36960995	75022226	32327314	46	17191											
BDKRB1	623	broad.mit.edu	37	chr14	96730362	96730362	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcctctgccgtgtcatcaacGgggtcatcaaggccaatttg	8	11	10	12	2	5	0	4	0	1	0	6	0	6	0	3	3	2	0	3	3	3	1			TCGA-KK-A8IB-01A-11D-A364-08	TCGA-KK-A8IB-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4f0563c-2660-42eb-aa93-bbe35d095334	5c82813e-861d-4893-bc6c-9cc3c0dba6c3	g.chr14:96730362G>C	ENST00000216629.6	+	3	949	c.343G>C	c.(343-345)Ggg>Cgg	p.G115R	RP11-404P21.3_ENST00000553638.1_RNA|BDKRB1_ENST00000553356.1_Missense_Mutation_p.G115R	NM_000710.3	NP_000701.2	P46663	BKRB1_HUMAN	bradykinin receptor B1	115					cell migration (GO:0016477)|inflammatory response (GO:0006954)|negative regulation of blood pressure (GO:0045776)|negative regulation of cell growth (GO:0030308)|negative regulation of protein phosphorylation (GO:0001933)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|response to lipopolysaccharide (GO:0032496)|response to mechanical stimulus (GO:0009612)|sensory perception of pain (GO:0019233)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	bradykinin receptor activity (GO:0004947)|peptide binding (GO:0042277)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(7)|ovary(4)|skin(1)|urinary_tract(1)	16		all_cancers(154;0.0677)|Melanoma(154;0.155)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.208)|Epithelial(152;0.226)		TGTCATCAACGGGGTCATCAA	0.572																																						ENST00000216629.6																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(7)|ovary(4)|skin(1)|urinary_tract(1)	16						c.(343-345)Ggg>Cgg		bradykinin receptor B1							81	79	79					14																	96730362		2203	4300	6503	SO:0001583	missense	0				elevation of cytosolic calcium ion concentration	endoplasmic reticulum|integral to plasma membrane	bradykinin receptor activity	g.chr14:96730362G>C	L42383	CCDS9943.1	14q32.1-q32.2	2012-08-08				ENSG00000100739		"GPCR / Class A : Bradykinin receptors"	1029	protein-coding gene	gene with protein product		600337				8808279	Standard	NM_000710		Approved	BKR1, B1BKR, bradyb1	uc001yfh.3	P46663		ENST00000216629.6:c.343G>C	14.37:g.96730362G>C	ENSP00000216629:p.Gly115Arg					RP11-404P21.3_ENST00000553638.1_RNA|BDKRB1_ENST00000553356.1_Missense_Mutation_p.G115R	p.G115R	NM_000710.3	NP_000701.2	P46663	BKRB1_HUMAN		COAD - Colon adenocarcinoma(157;0.208)|Epithelial(152;0.226)	3	949	+		all_cancers(154;0.0677)|Melanoma(154;0.155)|all_epithelial(191;0.179)	115					A8K7F5|Q546S7|Q8N0Y8	Missense_Mutation	SNP	ENST00000216629.6	37	c.343G>C	CCDS9943.1	.	.	.	.	.	.	.	.	.	.	G	12.82	2.052484	0.36181	.	.	ENSG00000100739	ENST00000216629;ENST00000553356	T;T	0.37752	1.18;1.18	5.47	5.47	0.80525	GPCR, rhodopsin-like superfamily (1);	0.397501	0.24808	N	0.035425	T	0.64713	0.2623	M	0.88512	2.96	0.23889	N	0.996558	D;D	0.76494	0.999;0.999	D;D	0.71656	0.956;0.974	T	0.62905	-0.6755	10	0.72032	D	0.01	-22.8159	13.6725	0.62434	0.0765:0.0:0.9235:0.0	.	115;115	G3V4Y2;P46663	.;BKRB1_HUMAN	R	115	ENSP00000216629:G115R;ENSP00000452064:G115R	ENSP00000216629:G115R	G	+	1	0	BDKRB1	95800115	0.000000	0.05858	0.188000	0.23233	0.300000	0.27592	0.338000	0.19858	2.589000	0.87451	0.555000	0.69702	GGG		0.572	BDKRB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413300.1			18	80	0	0	0	1	0	18	80					C	96730362	G	C	96730362	3	2	339	1	0	0	0	0	1	0	0	0	1392	1116	39	5	345	5	BDKRB1	14	96730362	Missense_Mutation	SNP	G	TCGA-KK-A8IB-01A-11D-A364-08	21708136	96730362	10619178	47	17192											
DYNC1H1	1778	broad.mit.edu	37	chr14	102482692	102482692	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tccctttttaatagcgatatCtggtttatgccatactctgg	8	17	7	9	1	2	0	0	0	2	0	3	1	3	0	2	2	3	1	2	2	5	8			TCGA-KK-A8IB-01A-11D-A364-08	TCGA-KK-A8IB-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4f0563c-2660-42eb-aa93-bbe35d095334	5c82813e-861d-4893-bc6c-9cc3c0dba6c3	g.chr14:102482692C>G	ENST00000360184.4	+	37	7644	c.7480C>G	c.(7480-7482)Ctg>Gtg	p.L2494V		NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	2494					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|cytoplasmic mRNA processing body assembly (GO:0033962)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic spindle organization (GO:0007052)|stress granule assembly (GO:0034063)|transport (GO:0006810)	centrosome (GO:0005813)|cytoplasmic dynein complex (GO:0005868)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|poly(A) RNA binding (GO:0044822)			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						ATAGCGATATCTGGTTTATGC	0.408																																						ENST00000360184.4																			0				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						c.(7480-7482)Ctg>Gtg		dynein, cytoplasmic 1, heavy chain 1							49	49	49					14																	102482692		2203	4300	6503	SO:0001583	missense	1778				cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding	g.chr14:102482692C>G	AB002323	CCDS9966.1	14q32.31	2006-12-21	2005-11-24	2005-11-24		ENSG00000197102		"Cytoplasmic dyneins"	2961	protein-coding gene	gene with protein product		600112	"dynein, cytoplasmic, heavy polypeptide 1"	DNECL, DNCL, DNCH1		16260502, 8666668	Standard	NM_001376		Approved	Dnchc1, HL-3, p22, DHC1	uc001yks.2	Q14204		ENST00000360184.4:c.7480C>G	14.37:g.102482692C>G	ENSP00000348965:p.Leu2494Val						p.L2494V	NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN			37	7644	+			2494					B0I1R0|Q6DKQ7|Q8WU28|Q92814|Q9Y4G5	Missense_Mutation	SNP	ENST00000360184.4	37	c.7480C>G	CCDS9966.1	.	.	.	.	.	.	.	.	.	.	C	13.31	2.197669	0.38806	.	.	ENSG00000197102	ENST00000360184	T	0.36520	1.25	5.54	2.7	0.31948	.	0.000000	0.64402	D	0.000001	T	0.38214	0.1032	M	0.76574	2.34	0.58432	D	0.999998	P	0.45011	0.848	B	0.39971	0.315	T	0.44832	-0.9302	10	0.66056	D	0.02	.	11.7584	0.51888	0.0:0.7421:0.0:0.2579	.	2494	Q14204	DYHC1_HUMAN	V	2494	ENSP00000348965:L2494V	ENSP00000348965:L2494V	L	+	1	2	DYNC1H1	101552445	0.708000	0.27876	0.943000	0.38184	0.701000	0.40568	1.080000	0.30779	0.823000	0.34589	0.561000	0.74099	CTG		0.408	DYNC1H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414574.1	NM_001376		6	49	0	0	0	1	0	6	49					G	102482692	C	G	102482692	3	3	339	1	0	0	0	0	1	0	0	0	4841	912	32	5	7626	5	DYNC1H1	14	102482692	Missense_Mutation	SNP	C	TCGA-KK-A8IB-01A-11D-A364-08	5752330	102482692	4866848	48	17193											
LMAN1L	79748	broad.mit.edu	37	chr15	75114226	75114226	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gggaggggtggccacctctcCatgtcactcaataaggtagg	9	8	14	10	0	3	0	2	0	1	0	4	1	3	1	3	6	0	1	3	6	3	2			TCGA-KK-A8IB-01A-11D-A364-08	TCGA-KK-A8IB-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4f0563c-2660-42eb-aa93-bbe35d095334	5c82813e-861d-4893-bc6c-9cc3c0dba6c3	g.chr15:75114226C>T	ENST00000309664.5	+	10	1255	c.1116C>T	c.(1114-1116)tcC>tcT	p.S372S	LMAN1L_ENST00000379709.3_Silent_p.S360S|RP11-414J4.2_ENST00000564823.1_RNA	NM_021819.2	NP_068591.2	Q9HAT1	LMA1L_HUMAN	lectin, mannose-binding, 1 like	372						integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			NS(2)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						GCCACCTCTCCATGTCACTCA	0.612																																						ENST00000309664.5																			0				NS(2)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(1114-1116)tcC>tcT		lectin, mannose-binding, 1 like							77	70	73					15																	75114226		2197	4296	6493	SO:0001819	synonymous_variant	79748					ER-Golgi intermediate compartment membrane|integral to membrane	sugar binding	g.chr15:75114226C>T	AF303398	CCDS10270.1	15q24.1	2005-08-05			ENSG00000140506	ENSG00000140506			6632	protein-coding gene	gene with protein product		609548				11255007	Standard	NM_021819		Approved	ERGL, ERGIC-53L	uc002ayt.1	Q9HAT1	OTTHUMG00000142813	ENST00000309664.5:c.1116C>T	15.37:g.75114226C>T						RP11-414J4.2_ENST00000564823.1_RNA|LMAN1L_ENST00000379709.3_Silent_p.S360S	p.S372S	NM_021819.2	NP_068591.2	Q9HAT1	LMA1L_HUMAN			10	1255	+			372					Q6UWN2	Silent	SNP	ENST00000309664.5	37	c.1116C>T	CCDS10270.1																																																																																				0.612	LMAN1L-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286397.4			8	41	0	0	0	1	0	8	41					T	75114226	C	T	75114226	2	4	339	1	0	0	0	0	0	0	0	1	8837	581	21	3		3	LMAN1L	15	75114226	Silent	SNP	C	TCGA-KK-A8IB-01A-11D-A364-08		75114226	27417166	49	17194											
ANPEP	290	broad.mit.edu	37	chr15	90348339	90348339	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttggatgcctgcttctccacGtagtcgaactcactgacaat	9	12	8	12	2	2	1	1	1	1	0	4	3	2	2	2	1	3	2	2	1	3	3			TCGA-KK-A8IB-01A-11D-A364-08	TCGA-KK-A8IB-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4f0563c-2660-42eb-aa93-bbe35d095334	5c82813e-861d-4893-bc6c-9cc3c0dba6c3	g.chr15:90348339G>A	ENST00000300060.6	-	4	1180	c.867C>T	c.(865-867)taC>taT	p.Y289Y	ANPEP_ENST00000558177.1_5'Flank	NM_001150.2	NP_001141.2	P15144	AMPN_HUMAN	alanyl (membrane) aminopeptidase	289	Interaction with HCoV-229E.|Metalloprotease.				angiogenesis (GO:0001525)|angiotensin maturation (GO:0002003)|cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|viral process (GO:0016032)	endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|receptor activity (GO:0004872)|virus receptor activity (GO:0001618)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	57	Lung NSC(78;0.0221)|all_lung(78;0.0448)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.169)		Ezetimibe(DB00973)|Icatibant(DB06196)	GCTTCTCCACGTAGTCGAACT	0.567																																					NSCLC(30;827 977 2459 19669 26125)	ENST00000300060.6																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	57						c.(865-867)taC>taT		alanyl (membrane) aminopeptidase	Ezetimibe(DB00973)						260	216	231					15																	90348339		2200	4299	6499	SO:0001819	synonymous_variant	290				angiogenesis|cell differentiation|interspecies interaction between organisms	cytosol|ER-Golgi intermediate compartment|integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|receptor activity|zinc ion binding	g.chr15:90348339G>A	M22324	CCDS10356.1	15q25-q26	2008-07-31	2008-07-31		ENSG00000166825	ENSG00000166825	3.4.11.2	"CD molecules"	500	protein-coding gene	gene with protein product	"aminopeptidase N", "aminopeptidase M", "microsomal aminopeptidase"	151530		CD13, PEPN		2428842, 1977688	Standard	NM_001150		Approved	LAP1, gp150, p150	uc002bop.4	P15144	OTTHUMG00000149814	ENST00000300060.6:c.867C>T	15.37:g.90348339G>A							p.Y289Y	NM_001150.2	NP_001141.2	P15144	AMPN_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.169)		4	1180	-	Lung NSC(78;0.0221)|all_lung(78;0.0448)		289			Interaction with HCoV-229E.|Metalloprotease.		Q16728|Q6GT90|Q8IUK3|Q8IVH3|Q9UCE0	Silent	SNP	ENST00000300060.6	37	c.867C>T	CCDS10356.1																																																																																				0.567	ANPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313425.1			16	79	0	0	0	1	0	16	79					A	90348339	G	A	90348339	2	1	339	1	0	0	0	0	0	0	0	1	710	1140	40	1		1	ANPEP	15	90348339	Silent	SNP	G	TCGA-KK-A8IB-01A-11D-A364-08	15234113	90348339	12183053	50	17195											
VPS35	55737	broad.mit.edu	37	chr16	46694501	46694501	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgctctgtttcttcactggaTtcaagattcgggaggtcttc	6	16	10	9	1	5	1	2	0	3	1	7	3	5	3	0	3	1	2	0	3	1	5			TCGA-KK-A8IB-01A-11D-A364-08	TCGA-KK-A8IB-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4f0563c-2660-42eb-aa93-bbe35d095334	5c82813e-861d-4893-bc6c-9cc3c0dba6c3	g.chr16:46694501T>G	ENST00000299138.7	-	17	2332	c.2274A>C	c.(2272-2274)gaA>gaC	p.E758D	RP11-93O14.2_ENST00000569353.1_RNA	NM_018206.4	NP_060676.2	Q96QK1	VPS35_HUMAN	vacuolar protein sorting 35 homolog (S. cerevisiae)	758					cell death (GO:0008219)|protein transport (GO:0015031)|retrograde transport, endosome to Golgi (GO:0042147)	cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|retromer complex (GO:0030904)				breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|pancreas(1)|prostate(1)|urinary_tract(1)	23		all_cancers(37;7.65e-05)|all_epithelial(9;0.000154)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116)				CTTCACTGGATTCAAGATTCG	0.408																																						ENST00000299138.7																			0				breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|pancreas(1)|prostate(1)|urinary_tract(1)	23						c.(2272-2274)gaA>gaC		vacuolar protein sorting 35 homolog (S. cerevisiae)							92	90	91					16																	46694501		2203	4300	6503	SO:0001583	missense	55737				protein transport|retrograde transport, endosome to Golgi	cytosol|endosome|membrane	protein binding	g.chr16:46694501T>G	AF175265	CCDS10721.1	16q12	2012-06-27	2006-12-19		ENSG00000069329	ENSG00000069329		"Parkinson disease"	13487	protein-coding gene	gene with protein product		601501	"vacuolar protein sorting 35 (yeast homolog)", "vacuolar protein sorting 35 (yeast)"			11112353, 21763482	Standard	NM_018206		Approved	FLJ10752, MEM3, PARK17	uc002eef.4	Q96QK1	OTTHUMG00000132542	ENST00000299138.7:c.2274A>C	16.37:g.46694501T>G	ENSP00000299138:p.Glu758Asp						p.E758D	NM_018206.4	NP_060676.2	Q96QK1	VPS35_HUMAN			17	2332	-		all_cancers(37;7.65e-05)|all_epithelial(9;0.000154)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116)	758					Q561W2|Q9H016|Q9H096|Q9H4P3|Q9H8J0|Q9NRS7|Q9NVG2|Q9NX80|Q9NZK2	Missense_Mutation	SNP	ENST00000299138.7	37	c.2274A>C	CCDS10721.1	.	.	.	.	.	.	.	.	.	.	.	11.48	1.650887	0.29336	.	.	ENSG00000069329	ENST00000299138;ENST00000541330	T	0.65732	-0.17	5.64	1.38	0.22167	.	0.044760	0.85682	D	0.000000	T	0.43299	0.1241	L	0.36672	1.1	0.58432	D	0.999994	B	0.02656	0.0	B	0.01281	0.0	T	0.11446	-1.0587	10	0.18710	T	0.47	-22.1363	5.4343	0.16472	0.1254:0.5292:0.0:0.3454	.	758	Q96QK1	VPS35_HUMAN	D	758;624	ENSP00000299138:E758D	ENSP00000299138:E758D	E	-	3	2	VPS35	45252002	0.880000	0.30214	1.000000	0.80357	0.972000	0.66771	0.016000	0.13377	0.330000	0.23485	-0.624000	0.04008	GAA		0.408	VPS35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255742.3			15	69	0	0	0	1	0	15	69					G	46694501	T	G	46694501	3	3	339	1	0	0	0	0	1	0	0	0	17200	1490	52	5	120	5	VPS35	16	46694501	Missense_Mutation	SNP	T	TCGA-KK-A8IB-01A-11D-A364-08		46694501	43660252	51	17196											
DNAH17	8632	broad.mit.edu	37	chr17	76462786	76462786	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gggcgctgacggacaccagcGcatcttccggccactcgtgg	6	6	14	15	5	1	1	0	1	1	0	3	2	2	2	3	4	1	2	3	4	0	1			TCGA-KK-A8IB-01A-11D-A364-08	TCGA-KK-A8IB-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4f0563c-2660-42eb-aa93-bbe35d095334	5c82813e-861d-4893-bc6c-9cc3c0dba6c3	g.chr17:76462786G>A	ENST00000585328.1	-	56	9000	c.8876C>T	c.(8875-8877)gCg>gTg	p.A2959V	DNAH17_ENST00000586052.1_5'UTR|DNAH17_ENST00000389840.5_Missense_Mutation_p.A2950V	NM_173628.3	NP_775899.3	Q9UFH2	DYH17_HUMAN	dynein, axonemal, heavy chain 17	2950	AAA 4. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			GGACACCAGCGCATCTTCCGG	0.627																																						ENST00000389840.5																			0				NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116						c.(8848-8850)gCg>gTg		dynein, axonemal, heavy chain 17							37	44	42					17																	76462786		2124	4265	6389	SO:0001583	missense	8632							g.chr17:76462786G>A	AJ000522		17q25.3	2012-04-19	2006-09-04		ENSG00000187775	ENSG00000187775		"Axonemal dyneins"	2946	protein-coding gene	gene with protein product		610063	"dynein, axonemal, heavy polypeptide 17", "dynein, axonemal, heavy chain like 1", "dynein, axonemal, heavy like 1"	DNAHL1		9545504	Standard	NM_173628		Approved	DNEL2, FLJ40457	uc010dhp.2	Q9UFH2		ENST00000585328.1:c.8876C>T	17.37:g.76462786G>A	ENSP00000465516:p.Ala2959Val					DNAH17_ENST00000586052.1_5'UTR|DNAH17_ENST00000585328.1_Missense_Mutation_p.A2959V	p.A2950V					BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)		56	8973	-								O00431|O15206|Q2M2Y1|Q6ZRQ2|Q8N7Q7	Missense_Mutation	SNP	ENST00000585328.1	37	c.8849C>T		.	.	.	.	.	.	.	.	.	.	G	31	5.095008	0.94197	.	.	ENSG00000187775	ENST00000300671;ENST00000389840	T	0.55930	0.49	5.07	5.07	0.68467	.	.	.	.	.	D	0.86665	0.5987	H	0.99927	4.965	0.54753	D	0.999989	.	.	.	.	.	.	D	0.93448	0.6799	7	0.72032	D	0.01	.	18.4655	0.90753	0.0:0.0:1.0:0.0	.	.	.	.	V	2959;2950	ENSP00000374490:A2950V	ENSP00000300671:A2959V	A	-	2	0	DNAH17	73974381	1.000000	0.71417	0.997000	0.53966	0.741000	0.42261	9.262000	0.95591	2.364000	0.80123	0.655000	0.94253	GCG		0.627	DNAH17-001	PUTATIVE	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000318962.2	NM_173628		4	20	0	0	0	1	0	4	20					A	76462786	G	A	76462786	3	1	339	1	0	0	0	0	1	0	0	0	4601	1087	38	1	4601	1	DNAH17	17	76462786	Missense_Mutation	SNP	G	TCGA-KK-A8IB-01A-11D-A364-08		76462786	4732424	52	17197											
ZNF521	25925	broad.mit.edu	37	chr18	22805204	22805204	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagtttccatagtgtaggctGccccacaaatgtcgcagccg	10	9	10	12	2	0	0	0	0	0	0	2	0	1	0	4	1	2	4	4	1	4	3			TCGA-KK-A8IB-01A-11D-A364-08	TCGA-KK-A8IB-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4f0563c-2660-42eb-aa93-bbe35d095334	5c82813e-861d-4893-bc6c-9cc3c0dba6c3	g.chr18:22805204G>A	ENST00000361524.3	-	4	2826	c.2678C>T	c.(2677-2679)gCa>gTa	p.A893V	ZNF521_ENST00000579111.1_5'Flank|ZNF521_ENST00000584787.1_Missense_Mutation_p.A673V|ZNF521_ENST00000538137.2_Missense_Mutation_p.A893V	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521	893					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein domain specific binding (GO:0019904)			NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					AGTGTAGGCTGCCCCACAAAT	0.512			T	PAX5	ALL																																	ENST00000361524.3				Dom	yes		18	18q11.2	25925	T	zinc finger protein 521			L	PAX5		ALL		0				NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149						c.(2677-2679)gCa>gTa		zinc finger protein 521							118	111	113					18																	22805204		2203	4300	6503	SO:0001583	missense	25925				cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein domain specific binding|zinc ion binding	g.chr18:22805204G>A	AK027354	CCDS32806.1	18q11.2	2013-01-08				ENSG00000198795		"Zinc fingers, C2H2-type"	24605	protein-coding gene	gene with protein product	"early hematopoietic zinc finger"	610974				11984006, 14630787	Standard	NM_015461		Approved	EHZF, Evi3	uc002kvk.2	Q96K83		ENST00000361524.3:c.2678C>T	18.37:g.22805204G>A	ENSP00000354794:p.Ala893Val					ZNF521_ENST00000538137.2_Missense_Mutation_p.A893V|ZNF521_ENST00000584787.1_Missense_Mutation_p.A673V	p.A893V	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN			4	2826	-	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)		893					A3QVP7|B0YJB7|Q8IXI0|Q8TES6|Q9C065|Q9HAL5|Q9UFK4	Missense_Mutation	SNP	ENST00000361524.3	37	c.2678C>T	CCDS32806.1	.	.	.	.	.	.	.	.	.	.	G	14.35	2.510642	0.44660	.	.	ENSG00000198795	ENST00000361524;ENST00000538137;ENST00000399425	T;T	0.27890	1.64;1.64	5.83	5.83	0.93111	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);	0.000000	0.85682	D	0.000000	T	0.60547	0.2277	M	0.79123	2.44	0.54753	D	0.999982	D	0.89917	1.0	D	0.87578	0.998	T	0.61530	-0.7044	10	0.66056	D	0.02	-20.8964	20.1184	0.97949	0.0:0.0:1.0:0.0	.	893	Q96K83	ZN521_HUMAN	V	893;927;893	ENSP00000354794:A893V;ENSP00000382352:A893V	ENSP00000354794:A893V	A	-	2	0	ZNF521	21059202	1.000000	0.71417	0.985000	0.45067	0.997000	0.91878	9.476000	0.97823	2.769000	0.95229	0.655000	0.94253	GCA		0.512	ZNF521-001	KNOWN	overlapping_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446781.2	NM_015461		4	51	0	0	0	1	0	4	51					A	22805204	G	A	22805204	3	1	339	1	0	0	0	0	1	0	0	0	17962	1319	46	3	1277	3	ZNF521	18	22805204	Missense_Mutation	SNP	G	TCGA-KK-A8IB-01A-11D-A364-08		22805204	55272044	53	17198											
BRD4	23476	broad.mit.edu	37	chr19	15349706	15349708	+	In_Frame_Del	DEL	GCT	GCT	-																															ctgctgctgttgctcctggcGctgctgctgctgctgctcct																										TCGA-KK-A8IB-01A-11D-A364-08	TCGA-KK-A8IB-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4f0563c-2660-42eb-aa93-bbe35d095334	5c82813e-861d-4893-bc6c-9cc3c0dba6c3	g.chr19:15349706_15349708delGCT	ENST00000263377.2	-	19	4087_4089	c.3866_3868delAGC	c.(3865-3870)cagcgc>cgc	p.Q1289del	AC004257.3_ENST00000602793.1_lincRNA	NM_058243.2	NP_490597.1	O60885	BRD4_HUMAN	bromodomain containing 4	1289	C-terminal (CTD) region.|Poly-Gln.				cellular response to DNA damage stimulus (GO:0006974)|chromatin remodeling (GO:0006338)|chromosome segregation (GO:0007059)|histone H3-K14 acetylation (GO:0044154)|histone H4-K12 acetylation (GO:0043983)|inner cell mass cell proliferation (GO:0001833)|negative regulation of DNA damage checkpoint (GO:2000002)|positive regulation of DNA binding (GO:0043388)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of inflammatory response (GO:0050727)|regulation of phosphorylation of RNA polymerase II C-terminal domain (GO:1901407)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromosome (GO:0005694)|condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|positive transcription elongation factor complex b (GO:0008024)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(3;3.02e-24)|Epithelial(3;4.71e-20)|all cancers(3;2.26e-18)			tgctcctggcgctgctgctgctg	0.709			T	C15orf55	lethal midline carcinoma of young people																																	ENST00000263377.2				Dom	yes		19	19p13.1	23476	T	bromodomain containing 4			E	C15orf55		lethal midline carcinoma of young people		0				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	21						c.(3865-3870)cgc>c		bromodomain containing 4				65,3995		3,59,1968						-7	0			9	158,7724		6,146,3789	no	coding	BRD4	NM_058243.2		9,205,5757	A1A1,A1R,RR		2.0046,1.601,1.8674				223,11719				SO:0001651	inframe_deletion	23476				interspecies interaction between organisms|positive regulation of G2/M transition of mitotic cell cycle|positive regulation of transcription elongation from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle	condensed nuclear chromosome|cytoplasm	protein binding	g.chr19:15349706_15349708delGCT	Y12059	CCDS12328.1, CCDS46004.1	19p13.12	2013-09-20	2002-01-14		ENSG00000141867	ENSG00000141867			13575	protein-coding gene	gene with protein product	"chromosome-associated protein"	608749	"bromodomain-containing 4"			10938129	Standard	NM_058243		Approved	HUNKI, MCAP, CAP, HUNK1	uc002nar.3	O60885	OTTHUMG00000183252	ENST00000263377.2:c.3866_3868delAGC	19.37:g.15349715_15349717delGCT	ENSP00000263377:p.Gln1289del						p.QR1289del	NM_058243.2	NP_490597.1	O60885	BRD4_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;3.02e-24)|Epithelial(3;4.71e-20)|all cancers(3;2.26e-18)		19	4087_4089	-			1289			Poly-Gln.		O60433|Q4G0X8|Q86YS8|Q96PD3	In_Frame_Del	DEL	ENST00000263377.2	37	c.3866_3868delAGC	CCDS12328.1																																																																																				0.709	BRD4-001	KNOWN	overlapping_uORF|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465800.3	NM_058243		2	4						2	4	---	---	---	---	-	15349708	GCT	-	15349706	7	5	339	1	0	1	0	1	0	0	0	0	1504	1087	38	0	228	0	BRD4	19	15349706	In_Frame_Del	DEL	GCT	TCGA-KK-A8IB-01A-11D-A364-08		15349706	43779277	54	17199											
RYR1	6261	broad.mit.edu	37	chr19	38976759	38976759	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgggggaggcggtgcgcgacGgtgggcagcacgctcgcgac	5	4	21	11	7	0	0	0	0	0	0	1	3	0	1	0	6	2	3	0	6	0	0			TCGA-KK-A8IB-01A-11D-A364-08	TCGA-KK-A8IB-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4f0563c-2660-42eb-aa93-bbe35d095334	5c82813e-861d-4893-bc6c-9cc3c0dba6c3	g.chr19:38976759G>A	ENST00000359596.3	+	34	5464	c.5464G>A	c.(5464-5466)Ggt>Agt	p.G1822S	RYR1_ENST00000355481.4_Missense_Mutation_p.G1822S|RYR1_ENST00000360985.3_Missense_Mutation_p.G1822S			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	1822	6 X approximate repeats.				calcium ion transport (GO:0006816)|cellular response to caffeine (GO:0071313)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|ossification involved in bone maturation (GO:0043931)|outflow tract morphogenesis (GO:0003151)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|skeletal muscle fiber development (GO:0048741)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|integral component of plasma membrane (GO:0005887)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|voltage-gated calcium channel activity (GO:0005245)	p.G1822C(1)		NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	GGTGCGCGACGGTGGGCAGCA	0.701																																						ENST00000355481.4																			1	Substitution - Missense(1)	p.G1822C(1)	lung(1)	NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285						c.(5464-5466)Ggt>Agt		ryanodine receptor 1 (skeletal)	Dantrolene(DB01219)						67	66	66					19																	38976759		2202	4293	6495	SO:0001583	missense	6261				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr19:38976759G>A	J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"Ion channels / Ryanodine receptors"	10483	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 137"	180901	"central core disease of muscle"	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.5464G>A	19.37:g.38976759G>A	ENSP00000352608:p.Gly1822Ser					RYR1_ENST00000360985.3_Missense_Mutation_p.G1822S|RYR1_ENST00000359596.3_Missense_Mutation_p.G1822S	p.G1822S	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		34	5595	+	all_cancers(60;7.91e-06)		1822			6 X approximate repeats.		Q16314|Q16368|Q9NPK1|Q9P1U4	Missense_Mutation	SNP	ENST00000359596.3	37	c.5464G>A	CCDS33011.1	.	.	.	.	.	.	.	.	.	.	G	15.76	2.929860	0.52759	.	.	ENSG00000196218	ENST00000359596;ENST00000355481;ENST00000360985	T;T;T	0.72835	-0.69;-0.69;-0.69	3.7	3.7	0.42460	.	0.000000	0.64402	U	0.000003	T	0.71863	0.3390	L	0.33485	1.01	0.46542	D	0.99909	D;P	0.89917	1.0;0.909	D;P	0.91635	0.999;0.588	T	0.65907	-0.6054	10	0.14656	T	0.56	.	10.4488	0.44509	0.1008:0.0:0.8992:0.0	.	1822;1822	P21817-2;P21817	.;RYR1_HUMAN	S	1822	ENSP00000352608:G1822S;ENSP00000347667:G1822S;ENSP00000354254:G1822S	ENSP00000347667:G1822S	G	+	1	0	RYR1	43668599	1.000000	0.71417	0.084000	0.20598	0.774000	0.43823	5.449000	0.66619	1.886000	0.54624	0.585000	0.79938	GGT		0.701	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1			13	66	0	0	0	1	0	13	66					A	38976759	G	A	38976759	3	1	339	1	0	0	0	0	1	0	0	0	13768	1116	39	2	5598	2	RYR1	19	38976759	Missense_Mutation	SNP	G	TCGA-KK-A8IB-01A-11D-A364-08	23627053	38976759	20152224	55	17200											
TGM6	343641	broad.mit.edu	37	chr20	2384362	2384362	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtggcacgaggatgagagccGggagcgtgtatactcaaaca	12	6	15	8	3	1	1	1	1	0	1	1	5	1	3	1	3	4	2	1	3	3	2			TCGA-KK-A8IB-01A-11D-A364-08	TCGA-KK-A8IB-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4f0563c-2660-42eb-aa93-bbe35d095334	5c82813e-861d-4893-bc6c-9cc3c0dba6c3	g.chr20:2384362G>A	ENST00000202625.2	+	9	1290	c.1229G>A	c.(1228-1230)cGg>cAg	p.R410Q	TGM6_ENST00000381423.1_Missense_Mutation_p.R410Q	NM_198994.2	NP_945345.2	O95932	TGM3L_HUMAN	transglutaminase 6	410					cell death (GO:0008219)|peptide cross-linking (GO:0018149)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)			breast(1)|endometrium(6)|kidney(2)|large_intestine(2)|lung(32)|ovary(4)|prostate(1)|skin(4)	52					L-Glutamine(DB00130)	GATGAGAGCCGGGAGCGTGTA	0.577																																						ENST00000202625.2																			0				breast(1)|endometrium(6)|kidney(2)|large_intestine(2)|lung(32)|ovary(4)|prostate(1)|skin(4)	52						c.(1228-1230)cGg>cAg		transglutaminase 6	L-Glutamine(DB00130)						118	103	108					20																	2384362		2203	4300	6503	SO:0001583	missense	343641				cell death|peptide cross-linking		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity	g.chr20:2384362G>A	AF540970	CCDS13025.1, CCDS58761.1	20p13	2010-12-19	2004-07-05	2004-07-07	ENSG00000166948	ENSG00000166948		"Transglutaminases"	16255	protein-coding gene	gene with protein product	"spinocerebellar ataxia 35"	613900	"transglutaminase 3-like"	TGM3L		11390390, 21106500	Standard	NM_198994		Approved	dJ734P14.3, TGY, SCA35	uc002wfy.1	O95932	OTTHUMG00000031692	ENST00000202625.2:c.1229G>A	20.37:g.2384362G>A	ENSP00000202625:p.Arg410Gln					TGM6_ENST00000381423.1_Missense_Mutation_p.R410Q	p.R410Q	NM_198994.2	NP_945345.2	O95932	TGM3L_HUMAN			9	1290	+			410					Q5JXU4|Q5JXU5|Q719M2|Q719M3|Q9Y4U8	Missense_Mutation	SNP	ENST00000202625.2	37	c.1229G>A	CCDS13025.1	.	.	.	.	.	.	.	.	.	.	G	0.120	-1.126269	0.01770	.	.	ENSG00000166948	ENST00000202625;ENST00000381423	T;T	0.72942	-0.7;-0.7	4.84	2.64	0.31445	.	0.503753	0.20705	N	0.087198	T	0.46112	0.1376	N	0.17312	0.475	0.21105	N	0.99979	B;B	0.22414	0.069;0.022	B;B	0.15052	0.012;0.005	T	0.22836	-1.0205	10	0.08837	T	0.75	-13.0667	7.0257	0.24938	0.3067:0.0:0.6933:0.0	.	410;410	O95932-2;O95932	.;TGM3L_HUMAN	Q	410	ENSP00000202625:R410Q;ENSP00000370831:R410Q	ENSP00000202625:R410Q	R	+	2	0	TGM6	2332362	0.007000	0.16637	0.973000	0.42090	0.271000	0.26615	0.477000	0.22196	0.632000	0.30432	0.549000	0.68633	CGG		0.577	TGM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077581.2	NM_198994		4	64	0	0	0	1	0	4	64					A	2384362	G	A	2384362	3	1	339	1	0	0	0	0	1	0	0	0	15831	1116	39	2	1263	2	TGM6	20	2384362	Missense_Mutation	SNP	G	TCGA-KK-A8IB-01A-11D-A364-08		2384362	60641158	56	17201											
PLCB4	5332	broad.mit.edu	37	chr20	9370528	9370528	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttttttgtttttaaaggaTgtaattcaagccatcaagga	12	18	7	4	0	2	0	2	0	0	0	2	2	2	2	1	2	1	2	1	2	5	9			TCGA-KK-A8IB-01A-11D-A364-08	TCGA-KK-A8IB-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4f0563c-2660-42eb-aa93-bbe35d095334	5c82813e-861d-4893-bc6c-9cc3c0dba6c3	g.chr20:9370528T>G	ENST00000378493.1	+	13	1176	c.1161T>G	c.(1159-1161)gaT>gaG	p.D387E	PLCB4_ENST00000414679.2_Missense_Mutation_p.D387E|PLCB4_ENST00000378473.3_Missense_Mutation_p.D387E|PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000378501.2_Missense_Mutation_p.D387E|PLCB4_ENST00000278655.4_Missense_Mutation_p.D387E|PLCB4_ENST00000334005.3_Missense_Mutation_p.D387E			Q15147	PLCB4_HUMAN	phospholipase C, beta 4	387	PI-PLC X-box. {ECO:0000255|PROSITE- ProRule:PRU00270}.				inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|dendrite (GO:0030425)|nucleus (GO:0005634)|postsynaptic density (GO:0014069)|smooth endoplasmic reticulum (GO:0005790)	calcium ion binding (GO:0005509)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						TTTTAAAGGATGTAATTCAAG	0.333																																						ENST00000378501.2																			0				NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						c.(1159-1161)gaT>gaG		phospholipase C, beta 4							90	88	89					20																	9370528		2203	4300	6503	SO:0001583	missense	5332				intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity	g.chr20:9370528T>G		CCDS13104.1, CCDS13105.1, CCDS54447.1	20p12	2008-03-18			ENSG00000101333	ENSG00000101333	3.1.4.11		9059	protein-coding gene	gene with protein product		600810				8530101	Standard	NM_000933		Approved		uc021wam.1	Q15147	OTTHUMG00000031853	ENST00000378493.1:c.1161T>G	20.37:g.9370528T>G	ENSP00000367754:p.Asp387Glu					PLCB4_ENST00000414679.2_Missense_Mutation_p.D387E|PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000334005.3_Missense_Mutation_p.D387E|PLCB4_ENST00000378473.3_Missense_Mutation_p.D387E|PLCB4_ENST00000378493.1_Missense_Mutation_p.D387E|PLCB4_ENST00000278655.4_Missense_Mutation_p.D387E	p.D387E	NM_000933.3	NP_000924.3	Q15147	PLCB4_HUMAN			13	1176	+			387			PI-PLC X-box.		B7ZLK6|E2QRH8|Q17R56|Q5JYS8|Q5JYS9|Q5JYT0|Q5JYT3|Q5JYT4|Q9BQW5|Q9BQW6|Q9BQW8|Q9UJQ2	Missense_Mutation	SNP	ENST00000378493.1	37	c.1161T>G	CCDS13105.1	.	.	.	.	.	.	.	.	.	.	T	19.27	3.795684	0.70452	.	.	ENSG00000101333	ENST00000334005;ENST00000378473;ENST00000278655;ENST00000378493;ENST00000378501;ENST00000414679	T;T;T;T;T;T	0.65364	-0.15;-0.15;-0.15;-0.15;-0.15;-0.15	5.65	5.65	0.86999	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);Phospholipase C, phosphatidylinositol-specific , X domain (3);	0.145288	0.64402	D	0.000008	T	0.51753	0.1693	L	0.42529	1.33	0.58432	D	0.999994	P;P;B;P	0.44241	0.829;0.568;0.361;0.67	B;B;B;B	0.38296	0.16;0.27;0.23;0.205	T	0.54682	-0.8257	10	0.41790	T	0.15	.	10.988	0.47532	0.0:0.0726:0.0:0.9274	.	387;234;387;387	E2QRH8;Q15147-2;Q15147;Q15147-4	.;.;PLCB4_HUMAN;.	E	387;387;387;387;387;223	ENSP00000334105:D387E;ENSP00000367734:D387E;ENSP00000278655:D387E;ENSP00000367754:D387E;ENSP00000367762:D387E;ENSP00000390616:D223E	ENSP00000278655:D387E	D	+	3	2	PLCB4	9318528	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	3.284000	0.51708	2.139000	0.66308	0.533000	0.62120	GAT		0.333	PLCB4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000077948.2			12	72	0	0	0	1	0	12	72					G	9370528	T	G	9370528	3	3	339	1	0	0	0	0	1	0	0	0	12030	1461	51	5	1211	5	PLCB4	20	9370528	Missense_Mutation	SNP	T	TCGA-KK-A8IB-01A-11D-A364-08	6986166	9370528	53654992	57	17202											
KIAA2022	340533	broad.mit.edu	37	chrX	73963818	73963818	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctgctctccatatttcatatTttctccagcattaatacact	10	17	2	12	0	3	0	1	0	2	0	5	0	3	0	2	0	3	2	2	0	4	7			TCGA-KK-A8IB-01A-11D-A364-08	TCGA-KK-A8IB-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4f0563c-2660-42eb-aa93-bbe35d095334	5c82813e-861d-4893-bc6c-9cc3c0dba6c3	g.chrX:73963818T>A	ENST00000055682.6	-	3	1185	c.574A>T	c.(574-576)Aat>Tat	p.N192Y		NM_001008537.2	NP_001008537.1	Q5QGS0	K2022_HUMAN	KIAA2022	192					base-excision repair, gap-filling (GO:0006287)|DNA replication proofreading (GO:0045004)|DNA replication, removal of RNA primer (GO:0043137)|nervous system development (GO:0007399)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleotide-excision repair, DNA gap filling (GO:0006297)|regulation of mitotic cell cycle (GO:0007346)	delta DNA polymerase complex (GO:0043625)|nucleus (GO:0005634)	3'-5' exonuclease activity (GO:0008408)|DNA-directed DNA polymerase activity (GO:0003887)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						TATTTCATATTTTCTCCAGCA	0.458																																						ENST00000373468.1																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						c.(574-576)Aat>Tat		KIAA2022							63	54	57					X																	73963818		2203	4300	6503	SO:0001583	missense	340533				base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity	g.chrX:73963818T>A		CCDS35337.1	Xq13.3	2014-02-19			ENSG00000050030	ENSG00000050030			29433	protein-coding gene	gene with protein product	"XLMR-related protein, neurite extension"	300524				15466006, 23615299	Standard	NM_001008537		Approved	XPN, MRX98	uc004eby.3	Q5QGS0	OTTHUMG00000021860	ENST00000055682.6:c.574A>T	X.37:g.73963818T>A	ENSP00000055682:p.Asn192Tyr					KIAA2022_ENST00000055682.5_Missense_Mutation_p.N192Y	p.N192Y			Q5QGS0	K2022_HUMAN			3	1225	-			192					A7YY87|Q5JUX9|Q8IVE9	Missense_Mutation	SNP	ENST00000055682.6	37	c.574A>T	CCDS35337.1	.	.	.	.	.	.	.	.	.	.	T	14.34	2.505390	0.44558	.	.	ENSG00000050030	ENST00000373468;ENST00000055682	T;T	0.32988	1.43;1.43	6.08	4.93	0.64822	.	1.064610	0.07219	N	0.860460	T	0.33673	0.0871	L	0.36672	1.1	0.28078	N	0.932308	P	0.40875	0.731	B	0.44224	0.444	T	0.25572	-1.0128	10	0.72032	D	0.01	-10.4157	10.6878	0.45854	0.0:0.0745:0.0:0.9255	.	192	Q5QGS0	K2022_HUMAN	Y	192	ENSP00000362567:N192Y;ENSP00000055682:N192Y	ENSP00000055682:N192Y	N	-	1	0	KIAA2022	73880543	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	1.919000	0.40015	2.044000	0.60594	0.486000	0.48141	AAT		0.458	KIAA2022-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057270.2	NM_001008537		5	36	0	0	0	1	0	5	36					A	73963818	T	A	73963818	3	1	339	1	0	0	0	0	1	0	0	0	8269	1841	64	5	3984	5	KIAA2022	23	73963818	Missense_Mutation	SNP	T	TCGA-KK-A8IB-01A-11D-A364-08		73963818	81306742	58	17203											
FAM133A	286499	broad.mit.edu	37	chrX	92964856	92964856	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaatcatcccaaagctctacGcatgaatcagaatcagagag	17	7	7	10	1	4	3	3	1	1	2	5	4	5	3	1	0	2	2	1	0	5	1			TCGA-KK-A8IB-01A-11D-A364-08	TCGA-KK-A8IB-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4f0563c-2660-42eb-aa93-bbe35d095334	5c82813e-861d-4893-bc6c-9cc3c0dba6c3	g.chrX:92964856G>A	ENST00000355813.5	+	4	964	c.438G>A	c.(436-438)acG>acA	p.T146T	FAM133A_ENST00000322139.4_Silent_p.T146T|FAM133A_ENST00000538690.1_Silent_p.T146T|FAM133A_ENST00000332647.4_Silent_p.T146T	NM_001171109.1|NM_173698.2	NP_001164580.1|NP_775969.1	Q8N9E0	F133A_HUMAN	family with sequence similarity 133, member A	146	Lys-rich.|Ser-rich.									breast(2)|endometrium(2)|large_intestine(8)|lung(7)|upper_aerodigestive_tract(1)	20						AAAGCTCTACGCATGAATCAG	0.368																																						ENST00000538690.1																			0				breast(2)|endometrium(2)|large_intestine(8)|lung(7)|upper_aerodigestive_tract(1)	20						c.(436-438)acG>acA		family with sequence similarity 133, member A							30	26	27					X																	92964856		2200	4296	6496	SO:0001819	synonymous_variant	286499							g.chrX:92964856G>A	AK094978	CCDS14466.1	Xq21.32	2010-05-04			ENSG00000179083	ENSG00000179083			26748	protein-coding gene	gene with protein product	"cancer/testis antigen 115"						Standard	NM_173698		Approved	RP1-32F7.2, FLJ37659, CT115	uc022bzv.1	Q8N9E0	OTTHUMG00000021975	ENST00000355813.5:c.438G>A	X.37:g.92964856G>A						FAM133A_ENST00000332647.4_Silent_p.T146T|FAM133A_ENST00000355813.5_Silent_p.T146T|FAM133A_ENST00000322139.4_Silent_p.T146T	p.T146T	NM_001171110.1	NP_001164581.1	Q8N9E0	F133A_HUMAN			5	999	+			146			Lys-rich.|Ser-rich.			Silent	SNP	ENST00000355813.5	37	c.438G>A	CCDS14466.1																																																																																				0.368	FAM133A-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057452.1	NM_173698		5	8	0	0	0	1	0	5	8					A	92964856	G	A	92964856	2	1	339	1	0	0	0	0	0	0	0	1	5443	1074	38	1		1	FAM133A	23	92964856	Silent	SNP	G	TCGA-KK-A8IB-01A-11D-A364-08	19001038	92964856	62305704	59	17204											
GPC4	2239	broad.mit.edu	37	chrX	132437323	132437323	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcaacctggacctctgggtTgttgccctggttggctaatc	5	13	12	11	0	2	0	1	0	1	0	3	1	2	1	3	4	2	4	3	4	2	4			TCGA-KK-A8IB-01A-11D-A364-08	TCGA-KK-A8IB-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4f0563c-2660-42eb-aa93-bbe35d095334	5c82813e-861d-4893-bc6c-9cc3c0dba6c3	g.chrX:132437323T>A	ENST00000370828.3	-	8	1863	c.1339A>T	c.(1339-1341)Aac>Tac	p.N447Y	GPC4_ENST00000535467.1_Missense_Mutation_p.N377Y	NM_001448.2	NP_001439.2	O75487	GPC4_HUMAN	glypican 4	447					anatomical structure morphogenesis (GO:0009653)|carbohydrate metabolic process (GO:0005975)|cell proliferation (GO:0008283)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|skin(1)|upper_aerodigestive_tract(1)	28	Acute lymphoblastic leukemia(192;0.000127)					ACCTCTGGGTTGTTGCCCTGG	0.443																																						ENST00000370828.3																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|skin(1)|upper_aerodigestive_tract(1)	28						c.(1339-1341)Aac>Tac		glypican 4							179	137	151					X																	132437323		2203	4300	6503	SO:0001583	missense	2239				anatomical structure morphogenesis|cell proliferation	anchored to membrane|external side of plasma membrane|extracellular space|insoluble fraction|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding	g.chrX:132437323T>A	AF030186	CCDS14637.1	Xq26.1	2008-02-05			ENSG00000076716	ENSG00000076716		"Proteoglycans / Cell Surface : Glypicans"	4452	protein-coding gene	gene with protein product	"glypican proteoglycan 4"	300168				9787072	Standard	NM_001448		Approved	K-glypican	uc004exc.1	O75487	OTTHUMG00000022434	ENST00000370828.3:c.1339A>T	X.37:g.132437323T>A	ENSP00000359864:p.Asn447Tyr					GPC4_ENST00000535467.1_Missense_Mutation_p.N377Y	p.N447Y	NM_001448.2	NP_001439.2	O75487	GPC4_HUMAN			8	1863	-	Acute lymphoblastic leukemia(192;0.000127)		447					B2R6J7|B4E2C0|Q6ZMA6|Q96L43|Q9NU08|Q9UJN1|Q9UPD9	Missense_Mutation	SNP	ENST00000370828.3	37	c.1339A>T	CCDS14637.1	.	.	.	.	.	.	.	.	.	.	T	20.5	3.999361	0.74818	.	.	ENSG00000076716	ENST00000370828;ENST00000536418;ENST00000535467	T;T	0.58210	0.35;0.35	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	T	0.77212	0.4097	M	0.90082	3.085	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.82436	-0.0458	10	0.87932	D	0	-14.0574	13.9179	0.63911	0.0:0.0:0.0:1.0	.	447	O75487	GPC4_HUMAN	Y	447;441;377	ENSP00000359864:N447Y;ENSP00000444959:N377Y	ENSP00000359864:N447Y	N	-	1	0	GPC4	132264989	1.000000	0.71417	0.993000	0.49108	0.691000	0.40173	8.040000	0.89188	1.883000	0.54544	0.486000	0.48141	AAC		0.443	GPC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058338.1	NM_001448		3	49	0	0	0	1	0	3	49					A	132437323	T	A	132437323	3	1	339	1	0	0	0	0	1	0	0	0	6600	1812	63	5	339	5	GPC4	23	132437323	Missense_Mutation	SNP	T	TCGA-KK-A8IB-01A-11D-A364-08	39472467	132437323	22833237	60	17205											
MECP2	4204	broad.mit.edu	37	chrX	153363076	153363078	+	5'UTR	DEL	CCT	CCT	-																															ctcacagtctctcctcctcgCctcctcctcctcctccgctc																										TCGA-KK-A8IB-01A-11D-A364-08	TCGA-KK-A8IB-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4f0563c-2660-42eb-aa93-bbe35d095334	5c82813e-861d-4893-bc6c-9cc3c0dba6c3	g.chrX:153363076_153363078delCCT	ENST00000303391.6	-	0	134_136				MECP2_ENST00000407218.1_5'UTR|MECP2_ENST00000453960.2_In_Frame_Del_p.15_16GG>G	NM_004992.3	NP_004983.1	P51608	MECP2_HUMAN	methyl CpG binding protein 2						adult locomotory behavior (GO:0008344)|behavioral fear response (GO:0001662)|cardiolipin metabolic process (GO:0032048)|catecholamine secretion (GO:0050432)|cerebellum development (GO:0021549)|chromatin silencing (GO:0006342)|dendrite development (GO:0016358)|glucocorticoid metabolic process (GO:0008211)|glutamine metabolic process (GO:0006541)|histone acetylation (GO:0016573)|histone methylation (GO:0016571)|inositol metabolic process (GO:0006020)|long-term memory (GO:0007616)|long-term synaptic potentiation (GO:0060291)|mitochondrial electron transport, ubiquinol to cytochrome c (GO:0006122)|negative regulation of histone acetylation (GO:0035067)|negative regulation of histone methylation (GO:0031061)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neurological system process involved in regulation of systemic arterial blood pressure (GO:0001976)|neuron maturation (GO:0042551)|pathogenesis (GO:0009405)|phosphatidylcholine metabolic process (GO:0046470)|positive regulation of cell proliferation (GO:0008284)|positive regulation of synapse assembly (GO:0051965)|positive regulation of transcription, DNA-templated (GO:0045893)|post-embryonic development (GO:0009791)|proprioception (GO:0019230)|protein localization (GO:0008104)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|respiratory gaseous exchange (GO:0007585)|response to hypoxia (GO:0001666)|sensory perception of pain (GO:0019233)|social behavior (GO:0035176)|startle response (GO:0001964)|synapse assembly (GO:0007416)|transcription, DNA-templated (GO:0006351)|ventricular system development (GO:0021591)|visual learning (GO:0008542)	cytosol (GO:0005829)|extracellular space (GO:0005615)|heterochromatin (GO:0000792)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|double-stranded methylated DNA binding (GO:0010385)|methyl-CpG binding (GO:0008327)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|protein domain specific binding (GO:0019904)|protein N-terminus binding (GO:0047485)|sequence-specific DNA binding transcription factor activity (GO:0003700)|siRNA binding (GO:0035197)|transcription corepressor activity (GO:0003714)			breast(2)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(8)|prostate(2)|urinary_tract(1)	23	all_cancers(53;3.7e-16)|all_epithelial(53;3.44e-10)|all_lung(58;2.06e-07)|Lung NSC(58;2.72e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CTCCTCCTCGCCTCCTCCTCCTC	0.778																																						ENST00000453960.2																			0				breast(2)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(8)|prostate(2)|urinary_tract(1)	23						c.(43-48)ggc>gg		methyl CpG binding protein 2 (Rett syndrome)			,	22,8,1503		2,0,16,2,2,4,0,613,257					,	3.9	1			5	66,8,3449		1,0,34,30,2,1,3,1282,850	no	utr-5,codingComplex	MECP2	NM_004992.3,NM_001110792.1	,	3,0,50,32,4,5,3,1895,1107	A1A1,A1A2,A1R,A1,A2A2,A2R,A2,RR,R		2.1005,1.9569,2.057	,	,		88,16,4952				SO:0001623	5_prime_UTR_variant	4204				negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	heterochromatin|nucleus	double-stranded methylated DNA binding|protein domain specific binding|protein N-terminus binding|transcription corepressor activity	g.chrX:153363076_153363078delCCT	AF158180	CCDS14741.1, CCDS48193.1	Xq28	2014-09-17	2014-06-18		ENSG00000169057	ENSG00000169057			6990	protein-coding gene	gene with protein product		300005	"mental retardation, X-linked 16", "mental retardation, X-linked 79", "Rett syndrome", "methyl CpG binding protein 2 (Rett syndrome)"	RTT, MRX16, MRX79		1606614, 10508514	Standard	NM_004992		Approved		uc004fjw.2	P51608	OTTHUMG00000024229	ENST00000303391.6:c.-116AGG>-	X.37:g.153363085_153363087delCCT						MECP2_ENST00000303391.6_5'UTR|MECP2_ENST00000407218.1_5'UTR	p.GG15del	NM_001110792.1	NP_001104262.1	P51608	MECP2_HUMAN			1	99_101	-	all_cancers(53;3.7e-16)|all_epithelial(53;3.44e-10)|all_lung(58;2.06e-07)|Lung NSC(58;2.72e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		0					O15233|Q6QHH9|Q7Z384	In_Frame_Del	DEL	ENST00000303391.6	37	c.45_47delAGG	CCDS14741.1																																																																																				0.778	MECP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061144.1	NM_004992		2	4						2	4	---	---	---	---	-	153363078	CCT	-	153363076	6	5	339	0	1	1	0	1	0	0	0	0	9423	739	26	0		0	MECP2	23	153363076	5'UTR	DEL	CCT	TCGA-KK-A8IB-01A-11D-A364-08	20925753	153363076	1907484	61	17206											
FCRL1	115350	broad.mit.edu	37	chr1	157773734	157773734	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtcttctttccacatggcagCgatctggagcttgggggagc	6	11	14	10	1	3	0	0	0	3	0	4	3	4	2	1	4	3	2	1	4	0	3	rs199965054		TCGA-KK-A8IC-01A-11D-A364-08	TCGA-KK-A8IC-11A-12D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa9f4535-3165-48c4-a3be-a76526deece3	9a7279b2-607d-41b8-bee0-226b1ae34c08	g.chr1:157773734C>T	ENST00000368176.3	-	3	287	c.220G>A	c.(220-222)Gct>Act	p.A74T	FCRL1_ENST00000358292.3_Missense_Mutation_p.A74T|FCRL1_ENST00000489998.1_5'UTR|FCRL1_ENST00000491942.1_Missense_Mutation_p.A74T	NM_001159398.1|NM_052938.4	NP_001152870.1|NP_443170.1	Q96LA6	FCRL1_HUMAN	Fc receptor-like 1	74	Ig-like C2-type 1.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(24)|ovary(4)|prostate(1)|skin(6)	42	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			CACATGGCAGCGATCTGGAGC	0.557													C|||	1	0.000199681	0	0	5008	,	,		18557	0.001		0	False		,,,				2504	0				GBM(54;482 1003 11223 30131 35730)	ENST00000358292.3																			0				breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(24)|ovary(4)|prostate(1)|skin(6)	42						c.(220-222)Gct>Act		Fc receptor-like 1							96	93	94					1																	157773734		2203	4300	6503	SO:0001583	missense	115350					integral to membrane|plasma membrane	receptor activity	g.chr1:157773734C>T	BC033690	CCDS1170.1, CCDS53382.1, CCDS53383.1	1q21-q22	2013-01-14			ENSG00000163534	ENSG00000163534		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	18509	protein-coding gene	gene with protein product		606508				11493702, 11929751	Standard	NM_052938		Approved	FCRH1, IRTA5, IFGP1, CD307a	uc001frg.3	Q96LA6	OTTHUMG00000019398	ENST00000368176.3:c.220G>A	1.37:g.157773734C>T	ENSP00000357158:p.Ala74Thr					FCRL1_ENST00000489998.1_5'UTR|FCRL1_ENST00000491942.1_Missense_Mutation_p.A74T|FCRL1_ENST00000368176.3_Missense_Mutation_p.A74T	p.A74T	NM_001159397.1	NP_001152869.1	Q96LA6	FCRL1_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.24)		3	271	-	all_hematologic(112;0.0378)		74			Ig-like C2-type 1.		B2RE05|Q8N759|Q8NDI0|Q96PJ6	Missense_Mutation	SNP	ENST00000368176.3	37	c.220G>A	CCDS1170.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	7.834	0.720490	0.15372	.	.	ENSG00000163534	ENST00000358292;ENST00000368176;ENST00000491942	T;T;T	0.11930	2.73;2.73;2.73	4.55	-9.11	0.00711	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	2.297580	0.01368	N	0.012475	T	0.01730	0.0055	L	0.31065	0.9	0.09310	N	1	B;B;B	0.29909	0.261;0.244;0.155	B;B;B	0.22753	0.041;0.019;0.007	T	0.11966	-1.0566	10	0.24483	T	0.36	.	4.2691	0.10778	0.2066:0.5036:0.1229:0.1668	.	74;74;74	Q96LA6-3;Q96LA6-2;Q96LA6	.;.;FCRL1_HUMAN	T	74	ENSP00000351039:A74T;ENSP00000357158:A74T;ENSP00000418130:A74T	ENSP00000351039:A74T	A	-	1	0	FCRL1	156040358	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.602000	0.05680	-3.118000	0.00239	-1.045000	0.02358	GCT		0.557	FCRL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051401.1	NM_052938		8	71	0	0	0	1	0	8	71					T	157773734	C	T	157773734	3	4	340	1	0	0	0	0	1	0	0	0	5794	768	27	1	1171	1	FCRL1	1	157773734	Missense_Mutation	SNP	C	TCGA-KK-A8IC-01A-11D-A364-08		157773734	91476887	1	17207											
OR6N2	81442	broad.mit.edu	37	chr1	158747100	158747100	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	taagaaggtagcattcagacGctcccaaggagtggaagaag	15	6	13	7	1	1	3	1	0	0	3	2	5	2	5	1	3	1	3	1	3	6	3	rs139851411	byFrequency	TCGA-KK-A8IC-01A-11D-A364-08	TCGA-KK-A8IC-11A-12D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa9f4535-3165-48c4-a3be-a76526deece3	9a7279b2-607d-41b8-bee0-226b1ae34c08	g.chr1:158747100G>A	ENST00000339258.1	-	1	325	c.326C>T	c.(325-327)gCg>gTg	p.A109V		NM_001005278.1	NP_001005278.1	Q8NGY6	OR6N2_HUMAN	olfactory receptor, family 6, subfamily N, member 2	109						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|large_intestine(6)|lung(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_hematologic(112;0.0378)					GCATTCAGACGCTCCCAAGGA	0.468													G|||	6	0.00119808	0.0038	0.0014	5008	,	,		22345	0		0	False		,,,				2504	0					ENST00000339258.1																			0				endometrium(3)|large_intestine(6)|lung(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						c.(325-327)gCg>gTg		olfactory receptor, family 6, subfamily N, member 2		G	VAL/ALA	7,4399	12.9+/-30.5	0,7,2196	107	107	107		326	5.2	1	1	dbSNP_134	107	1,8599	1.2+/-3.3	0,1,4299	yes	missense	OR6N2	NM_001005278.1	64	0,8,6495	AA,AG,GG		0.0116,0.1589,0.0615	probably-damaging	109/318	158747100	8,12998	2203	4300	6503	SO:0001583	missense	81442				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158747100G>A	BK004200	CCDS30906.1	1q23.1	2012-08-09			ENSG00000188340	ENSG00000188340		"GPCR / Class A : Olfactory receptors"	15035	protein-coding gene	gene with protein product							Standard	NM_001005278		Approved		uc010pir.2	Q8NGY6	OTTHUMG00000022775	ENST00000339258.1:c.326C>T	1.37:g.158747100G>A	ENSP00000344101:p.Ala109Val						p.A109V	NM_001005278.1	NP_001005278.1	Q8NGY6	OR6N2_HUMAN			1	325	-	all_hematologic(112;0.0378)		109					Q6IFR2	Missense_Mutation	SNP	ENST00000339258.1	37	c.326C>T	CCDS30906.1	.	.	.	.	.	.	.	.	.	.	G	13.08	2.129193	0.37533	0.001589	1.16E-4	ENSG00000188340	ENST00000339258	T	0.02050	4.48	5.17	5.17	0.71159	GPCR, rhodopsin-like superfamily (1);	0.000000	0.38217	N	0.001764	T	0.00845	0.0028	N	0.11313	0.125	0.31086	N	0.711388	D	0.64830	0.994	B	0.43658	0.426	T	0.60642	-0.7223	10	0.38643	T	0.18	-16.5266	13.3322	0.60495	0.0:0.1589:0.841:0.0	.	109	Q8NGY6	OR6N2_HUMAN	V	109	ENSP00000344101:A109V	ENSP00000344101:A109V	A	-	2	0	OR6N2	157013724	0.000000	0.05858	1.000000	0.80357	0.943000	0.58893	-1.135000	0.03225	2.686000	0.91538	0.650000	0.86243	GCG		0.468	OR6N2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059068.1			14	47	0	0	0	1	0	14	47					A	158747100	G	A	158747100	3	1	340	1	0	0	0	0	1	0	0	0	11207	1087	38	1	630	1	OR6N2	1	158747100	Missense_Mutation	SNP	G	TCGA-KK-A8IC-01A-11D-A364-08	973366	158747100	90503521	2	17208											
IGFN1	91156	broad.mit.edu	37	chr1	201195063	201195063	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggatgtcccgctgcactacgCggtgttcacacgctcctcag	6	9	11	15	4	2	0	2	0	0	0	4	1	4	1	2	2	2	4	2	2	1	2	rs139600545		TCGA-KK-A8IC-01A-11D-A364-08	TCGA-KK-A8IC-11A-12D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa9f4535-3165-48c4-a3be-a76526deece3	9a7279b2-607d-41b8-bee0-226b1ae34c08	g.chr1:201195063C>T	ENST00000335211.4	+	22	10728	c.10598C>T	c.(10597-10599)gCg>gTg	p.A3533V	IGFN1_ENST00000295591.8_3'UTR|RP11-567E21.3_ENST00000453155.1_RNA	NM_001164586.1	NP_001158058.1	Q86VF2	IGFN1_HUMAN	immunoglobulin-like and fibronectin type III domain containing 1	1076						nucleus (GO:0005634)|Z disc (GO:0030018)				autonomic_ganglia(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						CTGCACTACGCGGTGTTCACA	0.687																																						ENST00000335211.4																			0				autonomic_ganglia(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						c.(10597-10599)gCg>gTg		immunoglobulin-like and fibronectin type III domain containing 1		C	VAL/ALA	0,4406		0,0,2203	74	61	65		10598	3	0	1	dbSNP_134	65	1,8599	1.2+/-3.3	0,1,4299	no	missense	IGFN1	NM_001164586.1	64	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	3533/3709	201195063	1,13005	2203	4300	6503	SO:0001583	missense	91156							g.chr1:201195063C>T	AY245430	CCDS53455.1	1q32.1	2013-02-11			ENSG00000163395	ENSG00000163395		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	24607	protein-coding gene	gene with protein product							Standard	NM_001164586		Approved	DKFZp434B1231, EEF1A2BP1	uc001gwc.3	Q86VF2	OTTHUMG00000035728	ENST00000335211.4:c.10598C>T	1.37:g.201195063C>T	ENSP00000334714:p.Ala3533Val					IGFN1_ENST00000295591.8_3'UTR	p.A3533V	NM_001164586.1	NP_001158058.1					22	10728	+								F8WAI1|Q9NT72	Missense_Mutation	SNP	ENST00000335211.4	37	c.10598C>T	CCDS53455.1	.	.	.	.	.	.	.	.	.	.	C	0.009	-1.798955	0.00617	0.0	1.16E-4	ENSG00000163395	ENST00000335211	T	0.56941	0.43	5.0	3.0	0.34707	.	0.588783	0.17243	N	0.181451	T	0.21307	0.0513	N	0.03238	-0.38	0.09310	N	0.999997	B	0.28178	0.202	B	0.23150	0.044	T	0.25779	-1.0122	10	0.06365	T	0.9	.	7.0148	0.24883	0.3592:0.5605:0.0:0.0803	.	3533	F8WAI1	.	V	3533	ENSP00000334714:A3533V	ENSP00000334714:A3533V	A	+	2	0	IGFN1	199461686	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	0.099000	0.15210	0.566000	0.29273	0.561000	0.74099	GCG		0.687	IGFN1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_178275		6	19	0	0	0	1	0	6	19					T	201195063	C	T	201195063	3	4	340	1	0	0	0	0	1	0	0	0	7590	768	27	1	10680	1	IGFN1	1	201195063	Missense_Mutation	SNP	C	TCGA-KK-A8IC-01A-11D-A364-08	42447963	201195063	48055558	3	17209											
OR2M7	391196	broad.mit.edu	37	chr1	248487019	248487019	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctataaatgagaggattcagCatgggagtgacgatggtgta	13	10	14	4	1	1	2	1	2	0	1	1	6	1	4	0	3	1	2	0	3	4	4			TCGA-KK-A8IC-01A-11D-A364-08	TCGA-KK-A8IC-11A-12D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa9f4535-3165-48c4-a3be-a76526deece3	9a7279b2-607d-41b8-bee0-226b1ae34c08	g.chr1:248487019C>T	ENST00000317965.2	-	1	880	c.852G>A	c.(850-852)atG>atA	p.M284I		NM_001004691.1	NP_001004691.1	Q8NG81	OR2M7_HUMAN	olfactory receptor, family 2, subfamily M, member 7	284						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(6)|large_intestine(3)|lung(29)|skin(3)	42	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GAGGATTCAGCATGGGAGTGA	0.438																																						ENST00000317965.2																			0				breast(1)|endometrium(6)|large_intestine(3)|lung(29)|skin(3)	42						c.(850-852)atG>atA		olfactory receptor, family 2, subfamily M, member 7							102	95	97					1																	248487019		2203	4300	6503	SO:0001583	missense	391196				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248487019C>T	BK004486	CCDS31111.1	1q44	2012-08-09			ENSG00000177186	ENSG00000177186		"GPCR / Class A : Olfactory receptors"	19594	protein-coding gene	gene with protein product							Standard	NM_001004691		Approved		uc010pzk.2	Q8NG81	OTTHUMG00000040461	ENST00000317965.2:c.852G>A	1.37:g.248487019C>T	ENSP00000324557:p.Met284Ile						p.M284I	NM_001004691.1	NP_001004691.1	Q8NG81	OR2M7_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	880	-	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		284					B2RNL0|Q6IEX6	Missense_Mutation	SNP	ENST00000317965.2	37	c.852G>A	CCDS31111.1	.	.	.	.	.	.	.	.	.	.	C	2.801	-0.249228	0.05867	.	.	ENSG00000177186	ENST00000317965	T	0.37411	1.2	1.55	0.552	0.17230	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.36771	0.0979	M	0.78285	2.405	0.20975	N	0.999814	B	0.15141	0.012	B	0.15484	0.013	T	0.39603	-0.9606	9	0.66056	D	0.02	.	6.4289	0.21786	0.0:0.7022:0.0:0.2978	.	284	Q8NG81	OR2M7_HUMAN	I	284	ENSP00000324557:M284I	ENSP00000324557:M284I	M	-	3	0	OR2M7	246553642	0.000000	0.05858	0.664000	0.29753	0.038000	0.13279	-1.029000	0.03585	0.001000	0.14605	0.194000	0.17425	ATG		0.438	OR2M7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097357.1	NM_001004691		7	46	0	0	0	1	0	7	46					T	248487019	C	T	248487019	3	4	340	1	0	0	0	0	1	0	0	0	11014	710	25	3	89	3	OR2M7	1	248487019	Missense_Mutation	SNP	C	TCGA-KK-A8IC-01A-11D-A364-08	47291956	248487019	763602	4	17210											
RARRES1	5918	broad.mit.edu	37	chr3	158428676	158428676	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	tctgattcttgaaaaacactCgagcagaacatttccccaaa	15	10	5	11	1	2	3	0	2	2	1	4	4	3	3	2	0	3	1	2	0	4	3	rs201569002		TCGA-KK-A8IC-01A-11D-A364-08	TCGA-KK-A8IC-11A-12D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa9f4535-3165-48c4-a3be-a76526deece3	9a7279b2-607d-41b8-bee0-226b1ae34c08	g.chr3:158428676C>G	ENST00000237696.5	-	3	666	c.386G>C	c.(385-387)cGa>cCa	p.R129P	RARRES1_ENST00000479756.1_Missense_Mutation_p.R129P|RARRES1_ENST00000498640.1_Intron	NM_206963.1	NP_996846.1	P49788	TIG1_HUMAN	retinoic acid receptor responder (tazarotene induced) 1	129					negative regulation of cell proliferation (GO:0008285)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				NS(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(1)|ovary(1)	9			Lung(72;0.00309)|LUSC - Lung squamous cell carcinoma(72;0.0043)		Tretinoin(DB00755)	GAAAAACACTCGAGCAGAACA	0.438																																						ENST00000237696.5																			0				NS(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(1)|ovary(1)	9						c.(385-387)cGa>cCa		retinoic acid receptor responder (tazarotene induced) 1	Tretinoin(DB00755)						197	181	187					3																	158428676		2203	4300	6503	SO:0001583	missense	0				negative regulation of cell proliferation	integral to membrane		g.chr3:158428676C>G	U27185	CCDS3184.1, CCDS54665.1	3q25.32	2013-07-29			ENSG00000118849	ENSG00000118849			9867	protein-coding gene	gene with protein product	"latexin-like"	605090				8601727, 9270552	Standard	NM_002888		Approved	TIG1, LXNL	uc003fci.3	P49788	OTTHUMG00000158834	ENST00000237696.5:c.386G>C	3.37:g.158428676C>G	ENSP00000237696:p.Arg129Pro					RARRES1_ENST00000479756.1_Missense_Mutation_p.R129P|RARRES1_ENST00000498640.1_Intron	p.R129P	NM_206963.1	NP_996846.1	P49788	TIG1_HUMAN	Lung(72;0.00309)|LUSC - Lung squamous cell carcinoma(72;0.0043)		3	666	-			129					Q8N1D7	Missense_Mutation	SNP	ENST00000237696.5	37	c.386G>C	CCDS3184.1	.	.	.	.	.	.	.	.	.	.	C	16.78	3.218924	0.58560	.	.	ENSG00000118849	ENST00000237696;ENST00000479756	T;T	0.45276	0.9;0.9	5.7	-7.92	0.01160	.	0.925772	0.09205	N	0.834074	T	0.35740	0.0942	L	0.54323	1.7	0.09310	N	1	D;D	0.60575	0.988;0.984	P;P	0.50490	0.606;0.642	T	0.22452	-1.0216	10	0.46703	T	0.11	.	3.4789	0.07595	0.1046:0.1774:0.1918:0.5262	.	129;129	P49788-2;P49788	.;TIG1_HUMAN	P	129	ENSP00000237696:R129P;ENSP00000418556:R129P	ENSP00000237696:R129P	R	-	2	0	RARRES1	159911370	0.000000	0.05858	0.000000	0.03702	0.989000	0.77384	-2.257000	0.01180	-1.270000	0.02433	0.655000	0.94253	CGA		0.438	RARRES1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352358.1			43	138	0	0	0	1	0	43	138					G	158428676	C	G	158428676	3	3	340	1	0	0	0	0	1	0	0	0	13055	884	31	5	529	5	RARRES1	3	158428676	Missense_Mutation	SNP	C	TCGA-KK-A8IC-01A-11D-A364-08		158428676	39593754	5	17211											
CDS1	1040	broad.mit.edu	37	chr4	85569757	85569757	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagttgttggtgcttcaacCtgaacagcagttaaatatat	12	13	9	7	0	1	1	1	1	0	0	1	1	1	1	1	1	4	6	1	1	6	6			TCGA-KK-A8IC-01A-11D-A364-08	TCGA-KK-A8IC-11A-12D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa9f4535-3165-48c4-a3be-a76526deece3	9a7279b2-607d-41b8-bee0-226b1ae34c08	g.chr4:85569757C>T	ENST00000295887.5	+	13	1727	c.1304C>T	c.(1303-1305)cCt>cTt	p.P435L		NM_001263.3	NP_001254.2	O96017	CHK2_HUMAN	CDP-diacylglycerol synthase (phosphatidate cytidylyltransferase) 1	0	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular protein catabolic process (GO:0044257)|cellular response to DNA damage stimulus (GO:0006974)|DNA damage checkpoint (GO:0000077)|DNA damage induced protein phosphorylation (GO:0006975)|double-strand break repair (GO:0006302)|G2/M transition of mitotic cell cycle (GO:0000086)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)|regulation of protein catabolic process (GO:0042176)|regulation of transcription, DNA-templated (GO:0006355)|replicative senescence (GO:0090399)|response to gamma radiation (GO:0010332)|signal transduction in response to DNA damage (GO:0042770)|signal transduction involved in intra-S DNA damage checkpoint (GO:0072428)|spindle assembly involved in mitosis (GO:0090307)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|PML body (GO:0016605)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|liver(2)|lung(5)|ovary(1)	20		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.00101)		GTGCTTCAACCTGAACAGCAG	0.403																																						ENST00000295887.5																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|liver(2)|lung(5)|ovary(1)	20						c.(1303-1305)cCt>cTt		CDP-diacylglycerol synthase (phosphatidate cytidylyltransferase) 1							68	67	68					4																	85569757		2203	4300	6503	SO:0001583	missense	1040				signal transduction|visual perception	endoplasmic reticulum membrane|integral to membrane	diacylglycerol cholinephosphotransferase activity|phosphatidate cytidylyltransferase activity	g.chr4:85569757C>T	U65887	CCDS3608.1	4q21	2008-02-05			ENSG00000163624	ENSG00000163624	2.7.7.41		1800	protein-coding gene	gene with protein product		603548				9806839, 9115637	Standard	NM_001263		Approved		uc011ccv.2	Q92903	OTTHUMG00000130428	ENST00000295887.5:c.1304C>T	4.37:g.85569757C>T	ENSP00000295887:p.Pro435Leu						p.P435L	NM_001263.3	NP_001254.2	Q92903	CDS1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.00101)	13	1727	+		Hepatocellular(203;0.114)	435					A8K3Y9|B7ZBF3|B7ZBF4|B7ZBF5|Q6QA03|Q6QA04|Q6QA05|Q6QA06|Q6QA07|Q6QA08|Q6QA10|Q6QA11|Q6QA12|Q6QA13|Q9HBS5|Q9HCQ8|Q9UGF0|Q9UGF1	Missense_Mutation	SNP	ENST00000295887.5	37	c.1304C>T	CCDS3608.1	.	.	.	.	.	.	.	.	.	.	C	15.07	2.724999	0.48833	.	.	ENSG00000163624	ENST00000295887	T	0.44083	0.93	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	T	0.55178	0.1904	M	0.74881	2.28	0.80722	D	1	D	0.58268	0.982	P	0.52217	0.693	T	0.51482	-0.8700	10	0.11485	T	0.65	-6.6389	19.7392	0.96219	0.0:1.0:0.0:0.0	.	435	Q92903	CDS1_HUMAN	L	435	ENSP00000295887:P435L	ENSP00000295887:P435L	P	+	2	0	CDS1	85788781	0.998000	0.40836	0.321000	0.25320	0.130000	0.20726	5.416000	0.66417	2.649000	0.89929	0.650000	0.86243	CCT		0.403	CDS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252817.2			11	39	0	0	0	1	0	11	39					T	85569757	C	T	85569757	3	4	340	1	0	0	0	0	1	0	0	0	3177	681	24	3	1354	3	CDS1	4	85569757	Missense_Mutation	SNP	C	TCGA-KK-A8IC-01A-11D-A364-08		85569757	105584519	6	17212											
PHIP	55023	broad.mit.edu	37	chr6	79672824	79672824	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctttacttacctagtgtcatCaactggtttattcctgccac	8	16	5	12	0	2	0	2	0	0	0	3	0	3	0	3	1	4	1	3	1	5	7			TCGA-KK-A8IC-01A-11D-A364-08	TCGA-KK-A8IC-11A-12D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa9f4535-3165-48c4-a3be-a76526deece3	9a7279b2-607d-41b8-bee0-226b1ae34c08	g.chr6:79672824C>T	ENST00000275034.4	-	30	3692	c.3525G>A	c.(3523-3525)ttG>ttA	p.L1175L	AL356776.1_ENST00000516160.2_RNA|PHIP_ENST00000479165.1_5'UTR	NM_017934.5	NP_060404	Q8WWQ0	PHIP_HUMAN	pleckstrin homology domain interacting protein	1175					cytoskeleton organization (GO:0007010)|insulin receptor signaling pathway (GO:0008286)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of mitosis (GO:0045840)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein import into nucleus (GO:0006606)|regulation of cell morphogenesis (GO:0022604)|regulation of growth (GO:0040008)|regulation of protein phosphorylation (GO:0001932)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	insulin receptor binding (GO:0005158)|lysine-acetylated histone binding (GO:0070577)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(10)|kidney(4)|large_intestine(20)|lung(20)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	68		all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219)		BRCA - Breast invasive adenocarcinoma(397;0.231)		CTAGTGTCATCAACTGGTTTA	0.373																																						ENST00000275034.4																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(10)|kidney(4)|large_intestine(20)|lung(20)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	68						c.(3523-3525)ttG>ttA		pleckstrin homology domain interacting protein							290	273	278					6																	79672824		2203	4300	6503	SO:0001819	synonymous_variant	55023				insulin receptor signaling pathway|negative regulation of apoptosis|positive regulation of cell proliferation|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of mitosis	nucleus	insulin receptor binding	g.chr6:79672824C>T	AF310250	CCDS4987.1	6q14	2013-01-09			ENSG00000146247	ENSG00000146247		"WD repeat domain containing", "DDB1 and CUL4 associated factors"	15673	protein-coding gene	gene with protein product	"DDB1 and CUL4 associated factor 14"	612870		WDR11		11018022	Standard	NM_017934		Approved	ndrp, FLJ20705, DCAF14, BRWD2	uc003pir.3	Q8WWQ0	OTTHUMG00000015071	ENST00000275034.4:c.3525G>A	6.37:g.79672824C>T						PHIP_ENST00000479165.1_5'UTR	p.L1175L	NM_017934.5	NP_060404.3	Q8WWQ0	PHIP_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.231)	30	3692	-		all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219)	1175					A7J992|B2RPK4|Q05CQ9|Q5VVH4|Q66I29|Q69YV1|Q8NBZ5|Q96H52|Q96ME2|Q9H261	Silent	SNP	ENST00000275034.4	37	c.3525G>A	CCDS4987.1																																																																																				0.373	PHIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041297.2			7	172	0	0	0	1	0	7	172					T	79672824	C	T	79672824	2	4	340	1	0	0	0	0	0	0	0	1	11842	825	29	3		3	PHIP	6	79672824	Silent	SNP	C	TCGA-KK-A8IC-01A-11D-A364-08		79672824	91442243	7	17213											
TMEM184A	202915	broad.mit.edu	37	chr7	1594921	1594922	+	Frame_Shift_Del	DEL	AG	AG	-																															cctggtggcaggtgagcaccAgggcagtccacacgaagatc																										TCGA-KK-A8IC-01A-11D-A364-08	TCGA-KK-A8IC-11A-12D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa9f4535-3165-48c4-a3be-a76526deece3	9a7279b2-607d-41b8-bee0-226b1ae34c08	g.chr7:1594921_1594922delAG	ENST00000297477.5	-	2	515_516	c.199_200delCT	c.(199-201)ctgfs	p.L67fs		NM_001097620.1	NP_001091089.1	Q6ZMB5	T184A_HUMAN	transmembrane protein 184A	67					germ-line sex determination (GO:0018992)|regulation of protein localization (GO:0032880)|regulation of secretion (GO:0051046)	early endosome membrane (GO:0031901)|integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	12		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;5.88e-15)		GGTGAGCACCAGGGCAGTCCAC	0.688																																						ENST00000297477.5																			0				endometrium(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	12						c.(199-201)gfs		transmembrane protein 184A																																				SO:0001589	frameshift_variant	202915					integral to membrane		g.chr7:1594921_1594922delAG		CCDS43537.1	7p22.3	2008-05-02			ENSG00000164855	ENSG00000164855			28797	protein-coding gene	gene with protein product						12477932	Standard	NM_001097620		Approved	MGC9712	uc003skv.4	Q6ZMB5	OTTHUMG00000119025	ENST00000297477.5:c.199_200delCT	7.37:g.1594921_1594922delAG	ENSP00000297477:p.Leu67fs						p.L67fs	NM_001097620.1	NP_001091089.1	Q6ZMB5	T184A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;5.88e-15)	2	515_516	-		Ovarian(82;0.0253)	67					Q8TBQ6	Frame_Shift_Del	DEL	ENST00000297477.5	37	c.199_200delCT	CCDS43537.1																																																																																				0.688	TMEM184A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239229.4	NM_152689		2	4						2	4	---	---	---	---	-	1594922	AG	-	1594921	7	5	340	1	0	1	0	1	0	0	0	0	16101	188	7	0	1073	0	TMEM184A	7	1594921	Frame_Shift_Del	DEL	AG	TCGA-KK-A8IC-01A-11D-A364-08		1594921	157543742	8	17214											
CSPP1	79848	broad.mit.edu	37	chr8	68084687	68084687	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cccatggatatatttgatatGgctagacatcggttgcaagc	11	12	10	8	1	0	2	0	1	0	1	1	3	0	3	1	3	2	3	1	3	5	6			TCGA-KK-A8IC-01A-11D-A364-08	TCGA-KK-A8IC-11A-12D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa9f4535-3165-48c4-a3be-a76526deece3	9a7279b2-607d-41b8-bee0-226b1ae34c08	g.chr8:68084687G>A	ENST00000262210.5	+	23	2881	c.2850G>A	c.(2848-2850)atG>atA	p.M950I	CSPP1_ENST00000412460.1_Missense_Mutation_p.M605I|CSPP1_ENST00000521168.1_3'UTR	NM_024790.6	NP_079066.5	Q1MSJ5	CSPP1_HUMAN	centrosome and spindle pole associated protein 1	985					positive regulation of cell division (GO:0051781)|positive regulation of cytokinesis (GO:0032467)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|spindle (GO:0005819)|spindle pole (GO:0000922)				NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|prostate(3)|skin(1)|urinary_tract(1)	49	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.00145)|OV - Ovarian serous cystadenocarcinoma(28;0.00589)|all cancers(69;0.0069)|BRCA - Breast invasive adenocarcinoma(89;0.153)			TATTTGATATGGCTAGACATC	0.378																																						ENST00000262210.5																			0				NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|prostate(3)|skin(1)|urinary_tract(1)	49						c.(2848-2850)atG>atA		centrosome and spindle pole associated protein 1							90	92	92					8																	68084687		1847	4089	5936	SO:0001583	missense	79848					centrosome|microtubule|spindle		g.chr8:68084687G>A	AJ583433	CCDS43744.1	8q13.2	2014-02-24			ENSG00000104218	ENSG00000104218			26193	protein-coding gene	gene with protein product		611654				15580290, 24360807	Standard	NM_024790		Approved	FLJ22490, CSPP, JBTS21	uc003xxj.3	Q1MSJ5	OTTHUMG00000164564	ENST00000262210.5:c.2850G>A	8.37:g.68084687G>A	ENSP00000262210:p.Met950Ile					CSPP1_ENST00000412460.1_Missense_Mutation_p.M605I|CSPP1_ENST00000521168.1_3'UTR	p.M950I	NM_024790.6	NP_079066.5	Q1MSJ5	CSPP1_HUMAN	Epithelial(68;0.00145)|OV - Ovarian serous cystadenocarcinoma(28;0.00589)|all cancers(69;0.0069)|BRCA - Breast invasive adenocarcinoma(89;0.153)		23	2881	+	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	985					A6ND63|Q70F00|Q8TBC1	Missense_Mutation	SNP	ENST00000262210.5	37	c.2850G>A	CCDS43744.1	.	.	.	.	.	.	.	.	.	.	G	19.98	3.926553	0.73327	.	.	ENSG00000104218	ENST00000262210;ENST00000389042;ENST00000412460;ENST00000519668	T;T;T	0.34275	1.37;1.39;1.39	5.72	5.72	0.89469	.	0.112294	0.64402	D	0.000012	T	0.55273	0.1910	L	0.59436	1.845	0.28558	N	0.911295	D;P;P;P	0.58268	0.982;0.813;0.794;0.794	D;P;B;B	0.68943	0.961;0.642;0.406;0.406	T	0.53788	-0.8389	10	0.66056	D	0.02	-15.881	14.3278	0.66532	0.0:0.0:0.8516:0.1484	.	108;605;950;985	Q9H688;Q1MSJ5-2;Q1MSJ5-1;Q1MSJ5	.;.;.;CSPP1_HUMAN	I	950;985;605;605	ENSP00000262210:M950I;ENSP00000415782:M605I;ENSP00000430092:M605I	ENSP00000262210:M950I	M	+	3	0	CSPP1	68247241	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	4.899000	0.63245	2.689000	0.91719	0.591000	0.81541	ATG		0.378	CSPP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379254.1	NM_024790		12	65	0	0	0	1	0	12	65					A	68084687	G	A	68084687	3	1	340	1	0	0	0	0	1	0	0	0	3962	1348	47	3	3053	3	CSPP1	8	68084687	Missense_Mutation	SNP	G	TCGA-KK-A8IC-01A-11D-A364-08		68084687	78279335	9	17215											
RPL7	6129	broad.mit.edu	37	chr8	74205006	74205006	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttcttaagggtttctggcAcagcaggaacctccttcttc	7	15	8	11	0	3	0	0	0	3	0	5	1	4	1	2	3	2	3	2	3	2	6			TCGA-KK-A8IC-01A-11D-A364-08	TCGA-KK-A8IC-11A-12D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa9f4535-3165-48c4-a3be-a76526deece3	9a7279b2-607d-41b8-bee0-226b1ae34c08	g.chr8:74205006A>C	ENST00000352983.2	-	2	326	c.41T>G	c.(40-42)gTg>gGg	p.V14G	RDH10_ENST00000240285.5_5'Flank|RPL7_ENST00000396465.1_5'UTR|RPL7_ENST00000396467.1_5'UTR|RPL7_ENST00000396466.1_5'UTR|RPL7_ENST00000487500.1_5'Flank			P18124	RL7_HUMAN	ribosomal protein L7	14	4 X 12 AA tandem repeats.				cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|ribosomal large subunit biogenesis (GO:0042273)|RNA metabolic process (GO:0016070)|rRNA processing (GO:0006364)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			breast(1)|kidney(1)|large_intestine(2)|lung(1)	5	Breast(64;0.0954)		Epithelial(68;0.0193)|all cancers(69;0.0766)|BRCA - Breast invasive adenocarcinoma(89;0.134)			GGTTTCTGGCACAGCAGGAAC	0.413																																						ENST00000352983.2																			0				breast(1)|kidney(1)|large_intestine(2)|lung(1)	5						c.(40-42)gTg>gGg		ribosomal protein L7							56	65	62					8																	74205006		2203	4300	6503	SO:0001583	missense	6129				endocrine pancreas development|ribosomal large subunit biogenesis|rRNA processing|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	DNA binding|mRNA binding|protein homodimerization activity|structural constituent of ribosome	g.chr8:74205006A>C	L16557	CCDS6212.1	8q13.3	2011-04-06			ENSG00000147604	ENSG00000147604		"L ribosomal proteins"	10363	protein-coding gene	gene with protein product		604166				8360149, 8441630	Standard	XM_006716463		Approved	humL7-1, L7	uc003xzg.3	P18124	OTTHUMG00000134312	ENST00000352983.2:c.41T>G	8.37:g.74205006A>C	ENSP00000339795:p.Val14Gly					RPL7_ENST00000396466.1_5'UTR|RPL7_ENST00000396465.1_5'UTR|RPL7_ENST00000396467.1_5'UTR	p.V14G			P18124	RL7_HUMAN	Epithelial(68;0.0193)|all cancers(69;0.0766)|BRCA - Breast invasive adenocarcinoma(89;0.134)		2	326	-	Breast(64;0.0954)		14			4 X 12 AA tandem repeats.		A8K504|Q15289|Q3KQU0|Q5I0X1|Q6IBM9	Missense_Mutation	SNP	ENST00000352983.2	37	c.41T>G	CCDS6212.1	.	.	.	.	.	.	.	.	.	.	A	16.68	3.191535	0.58017	.	.	ENSG00000147604	ENST00000352983	.	.	.	4.71	3.51	0.40186	.	0.000000	0.64402	U	0.000007	T	0.75421	0.3847	M	0.85710	2.77	0.80722	D	1	P	0.47677	0.899	P	0.56612	0.802	T	0.77571	-0.2538	9	0.87932	D	0	.	10.2693	0.43473	0.92:0.0:0.08:0.0	.	14	P18124	RL7_HUMAN	G	14	.	ENSP00000339795:V14G	V	-	2	0	RPL7	74367560	1.000000	0.71417	0.998000	0.56505	0.982000	0.71751	7.277000	0.78572	0.785000	0.33685	0.533000	0.62120	GTG		0.413	RPL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259287.1	NM_000971		7	41	0	0	0	1	0	7	41					C	74205006	A	C	74205006	3	2	340	1	0	0	0	0	1	0	0	0	13599	159	6	5	725	5	RPL7	8	74205006	Missense_Mutation	SNP	A	TCGA-KK-A8IC-01A-11D-A364-08	6120319	74205006	72159016	10	17216											
ZFPM2	23414	broad.mit.edu	37	chr8	106814523	106814523	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaccatgcgcacacgcaagcGcagaaagatgtatgagatgt	15	6	11	9	3	0	3	0	1	0	3	0	4	0	3	1	0	3	4	1	0	4	1			TCGA-KK-A8IC-01A-11D-A364-08	TCGA-KK-A8IC-11A-12D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa9f4535-3165-48c4-a3be-a76526deece3	9a7279b2-607d-41b8-bee0-226b1ae34c08	g.chr8:106814523G>A	ENST00000407775.2	+	8	2463	c.2213G>A	c.(2212-2214)cGc>cAc	p.R738H	RP11-152P17.2_ENST00000509144.2_RNA|RP11-152P17.2_ENST00000518932.1_RNA|ZFPM2_ENST00000520492.1_Missense_Mutation_p.R606H|RP11-152P17.2_ENST00000520433.1_RNA|RP11-152P17.2_ENST00000520594.1_RNA|ZFPM2_ENST00000517361.1_Missense_Mutation_p.R606H|ZFPM2_ENST00000522296.1_3'UTR|ZFPM2_ENST00000378472.4_Missense_Mutation_p.R469H|RP11-152P17.2_ENST00000521622.1_RNA|RP11-152P17.2_ENST00000524045.2_RNA	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	zinc finger protein, FOG family member 2	738					blood coagulation (GO:0007596)|embryonic organ development (GO:0048568)|gonadal mesoderm development (GO:0007506)|in utero embryonic development (GO:0001701)|lung development (GO:0030324)|negative regulation of cell death (GO:0060548)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of female gonad development (GO:2000195)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract septum morphogenesis (GO:0003148)|positive regulation of male gonad development (GO:2000020)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|right ventricular cardiac muscle tissue morphogenesis (GO:0003221)|vasculogenesis (GO:0001570)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|nucleic acid binding transcription factor activity (GO:0001071)|RNA polymerase II transcription coactivator activity (GO:0001105)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			ACACGCAAGCGCAGAAAGATG	0.507																																						ENST00000407775.2																			0				NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99						c.(2212-2214)cGc>cAc		zinc finger protein, FOG family member 2							47	47	47					8																	106814523		2089	4219	6308	SO:0001583	missense	23414				blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding	g.chr8:106814523G>A	AF119334	CCDS47908.1	8q23	2013-01-10	2012-11-27		ENSG00000169946	ENSG00000169946		"Zinc fingers, C2H2-type", "Zinc fingers, C2HC-type containing"	16700	protein-coding gene	gene with protein product		603693	"zinc finger protein, multitype 2"			9927675, 10438528	Standard	NM_012082		Approved	FOG2, hFOG-2, ZNF89B, ZC2HC11B	uc003ymd.3	Q8WW38	OTTHUMG00000164818	ENST00000407775.2:c.2213G>A	8.37:g.106814523G>A	ENSP00000384179:p.Arg738His					RP11-152P17.2_ENST00000509144.2_RNA|RP11-152P17.2_ENST00000520594.1_RNA|ZFPM2_ENST00000378472.4_Missense_Mutation_p.R469H|ZFPM2_ENST00000522296.1_3'UTR|ZFPM2_ENST00000520492.1_Missense_Mutation_p.R606H|RP11-152P17.2_ENST00000520433.1_RNA|ZFPM2_ENST00000517361.1_Missense_Mutation_p.R606H|RP11-152P17.2_ENST00000518932.1_RNA|RP11-152P17.2_ENST00000524045.2_RNA|RP11-152P17.2_ENST00000521622.1_RNA	p.R738H	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)		8	2463	+			738					Q32MA6|Q9NPL7|Q9NPS4|Q9UNI5	Missense_Mutation	SNP	ENST00000407775.2	37	c.2213G>A	CCDS47908.1	.	.	.	.	.	.	.	.	.	.	G	25.3	4.625813	0.87560	.	.	ENSG00000169946	ENST00000407775;ENST00000520492;ENST00000517361;ENST00000378472	T;T;T;T	0.54675	0.56;1.13;1.13;2.36	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	T	0.73606	0.3608	M	0.72118	2.19	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.73490	-0.3966	10	0.54805	T	0.06	.	19.88	0.96892	0.0:0.0:1.0:0.0	.	738	Q8WW38	FOG2_HUMAN	H	738;606;606;469	ENSP00000384179:R738H;ENSP00000430757:R606H;ENSP00000428720:R606H;ENSP00000367733:R469H	ENSP00000367733:R469H	R	+	2	0	ZFPM2	106883699	1.000000	0.71417	0.968000	0.41197	0.965000	0.64279	9.869000	0.99810	2.708000	0.92522	0.561000	0.74099	CGC		0.507	ZFPM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380614.1			5	20	0	0	0	1	0	5	20					A	106814523	G	A	106814523	3	1	340	1	0	0	0	0	1	0	0	0	17655	1087	38	1	2243	1	ZFPM2	8	106814523	Missense_Mutation	SNP	G	TCGA-KK-A8IC-01A-11D-A364-08	32609517	106814523	39549499	11	17217											
PPAPDC3	84814	broad.mit.edu	37	chr9	134183365	134183365	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagaagctcatcaagcggcgCggcccgtacgagacgagccc	10	3	13	15	6	2	2	2	0	0	2	2	4	2	2	2	2	4	2	2	2	3	1	rs143064692	byFrequency	TCGA-KK-A8IC-01A-11D-A364-08	TCGA-KK-A8IC-11A-12D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa9f4535-3165-48c4-a3be-a76526deece3	9a7279b2-607d-41b8-bee0-226b1ae34c08	g.chr9:134183365C>T	ENST00000372264.3	+	2	811	c.507C>T	c.(505-507)cgC>cgT	p.R169R		NM_032728.3	NP_116117.3	Q8NBV4	PPAC3_HUMAN	phosphatidic acid phosphatase type 2 domain containing 3	169					negative regulation of myotube differentiation (GO:0010832)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)	hydrolase activity (GO:0016787)			breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(9)|skin(1)	16	all_hematologic(7;0.0119)			OV - Ovarian serous cystadenocarcinoma(145;1.22e-05)|Epithelial(140;0.000173)		TCAAGCGGCGCGGCCCGTACG	0.687													C|||	9	0.00179712	0.0068	0	5008	,	,		15256	0		0	False		,,,				2504	0					ENST00000372264.3																			0				breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(9)|skin(1)	16						c.(505-507)cgC>cgT		phosphatidic acid phosphatase type 2 domain containing 3		C		19,4387	25.3+/-52.1	0,19,2184	42	38	39		507	-9.4	0.2	9	dbSNP_134	39	0,8598		0,0,4299	no	coding-synonymous	PPAPDC3	NM_032728.3		0,19,6483	TT,TC,CC		0.0,0.4312,0.1461		169/272	134183365	19,12985	2203	4299	6502	SO:0001819	synonymous_variant	84814					endoplasmic reticulum membrane|integral to membrane|nuclear envelope	hydrolase activity	g.chr9:134183365C>T	AK027568	CCDS6942.1	9q34.2-q34.3	2008-02-26	2005-07-15	2005-07-15	ENSG00000160539	ENSG00000160539			28174	protein-coding gene	gene with protein product			"chromosome 9 open reading frame 67"	C9orf67		12958361	Standard	NM_032728		Approved	MGC12921, FLJ14662, NET39	uc004cal.2	Q8NBV4	OTTHUMG00000020822	ENST00000372264.3:c.507C>T	9.37:g.134183365C>T							p.R169R	NM_032728.3	NP_116117.3	Q8NBV4	PPAC3_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.22e-05)|Epithelial(140;0.000173)	2	811	+	all_hematologic(7;0.0119)		169					Q5T6P0|Q96SS7|Q9BRC3	Silent	SNP	ENST00000372264.3	37	c.507C>T	CCDS6942.1																																																																																				0.687	PPAPDC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054724.1	NM_032728		10	29	0	0	0	1	0	10	29					T	134183365	C	T	134183365	2	4	340	1	0	0	0	0	0	0	0	1	12296	755	27	1		1	PPAPDC3	9	134183365	Silent	SNP	C	TCGA-KK-A8IC-01A-11D-A364-08		134183365	7030066	12	17218											
BTBD16	118663	broad.mit.edu	37	chr10	124050622	124050622	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cacggccctgaagaacctctAcatgagtgaggtggagatta	12	8	12	9	1	1	5	0	3	1	2	1	6	1	5	2	3	2	0	2	3	4	2			TCGA-KK-A8IC-01A-11D-A364-08	TCGA-KK-A8IC-11A-12D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa9f4535-3165-48c4-a3be-a76526deece3	9a7279b2-607d-41b8-bee0-226b1ae34c08	g.chr10:124050622A>G	ENST00000260723.4	+	7	754	c.503A>G	c.(502-504)tAc>tGc	p.Y168C	BTBD16_ENST00000368994.2_Missense_Mutation_p.Y169C	NM_144587.2	NP_653188.2	Q32M84	BTBDG_HUMAN	BTB (POZ) domain containing 16	168	BTB.									breast(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(3)|skin(2)|stomach(1)|urinary_tract(1)	15		all_neural(114;0.107)|Lung NSC(174;0.175)|all_lung(145;0.222)|Breast(234;0.238)				AAGAACCTCTACATGAGTGAG	0.582																																						ENST00000368994.2																			0				breast(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(3)|skin(2)|stomach(1)|urinary_tract(1)	15						c.(505-507)tAc>tGc		BTB (POZ) domain containing 16							145	138	140					10																	124050622		2203	4300	6503	SO:0001583	missense	118663							g.chr10:124050622A>G	AK058088	CCDS31301.1	10q26.13	2013-01-24	2006-07-04	2006-07-04	ENSG00000138152	ENSG00000138152		"BTB/POZ domain containing"	26340	protein-coding gene	gene with protein product			"chromosome 10 open reading frame 87"	C10orf87			Standard	NM_144587		Approved	FLJ25359, Em:AC061711.1	uc001lgc.1	Q32M84	OTTHUMG00000019182	ENST00000260723.4:c.503A>G	10.37:g.124050622A>G	ENSP00000260723:p.Tyr168Cys					BTBD16_ENST00000260723.4_Missense_Mutation_p.Y168C	p.Y169C			Q32M84	BTBDG_HUMAN			7	757	+		all_neural(114;0.107)|Lung NSC(174;0.175)|all_lung(145;0.222)|Breast(234;0.238)	168			BTB.		A6NM63|Q4VXL1|Q96LN0	Missense_Mutation	SNP	ENST00000260723.4	37	c.506A>G	CCDS31301.1	.	.	.	.	.	.	.	.	.	.	A	15.25	2.778909	0.49891	.	.	ENSG00000138152	ENST00000260723;ENST00000368994	T;T	0.54866	0.55;0.55	5.56	5.56	0.83823	BTB/POZ fold (2);	0.000000	0.64402	D	0.000002	T	0.74831	0.3768	M	0.87456	2.885	0.58432	D	0.999996	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.79564	-0.1751	10	0.87932	D	0	-32.2448	12.1116	0.53842	1.0:0.0:0.0:0.0	.	169;168	Q32M84-2;Q32M84	.;BTBDG_HUMAN	C	168;169	ENSP00000260723:Y168C;ENSP00000357990:Y169C	ENSP00000260723:Y168C	Y	+	2	0	BTBD16	124040612	0.938000	0.31826	0.907000	0.35723	0.283000	0.27025	2.790000	0.47821	2.103000	0.63969	0.533000	0.62120	TAC		0.582	BTBD16-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000050780.3	NM_144587		25	85	0	0	0	1	0	25	85					G	124050622	A	G	124050622	3	3	340	1	0	0	0	0	1	0	0	0	1541	391	14	4	525	4	BTBD16	10	124050622	Missense_Mutation	SNP	A	TCGA-KK-A8IC-01A-11D-A364-08		124050622	11484125	13	17219											
PTPRE	5791	broad.mit.edu	37	chr10	129854464	129854464	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agagaaaaaaacagatatccCaacatccttcccagtaagat	19	7	5	10	0	0	3	0	0	0	3	3	4	3	3	3	0	2	1	3	0	6	3			TCGA-KK-A8IC-01A-11D-A364-08	TCGA-KK-A8IC-11A-12D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa9f4535-3165-48c4-a3be-a76526deece3	9a7279b2-607d-41b8-bee0-226b1ae34c08	g.chr10:129854464C>T	ENST00000254667.3	+	7	777	c.498C>T	c.(496-498)ccC>ccT	p.P166P	PTPRE_ENST00000306042.5_Silent_p.P108P|PTPRE_ENST00000430713.2_Intron|PTPRE_ENST00000419012.2_Silent_p.P166P	NM_006504.4	NP_006495.1	P23469	PTPRE_HUMAN	protein tyrosine phosphatase, receptor type, E	166	Tyrosine-protein phosphatase 1. {ECO:0000255|PROSITE-ProRule:PRU00160}.				negative regulation of insulin receptor signaling pathway (GO:0046627)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of mast cell activation (GO:0033003)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	22		all_epithelial(44;1.66e-05)|all_lung(145;0.00456)|Lung NSC(174;0.0066)|all_neural(114;0.0936)|Colorectal(57;0.141)|Breast(234;0.166)|Melanoma(40;0.203)			Alendronate(DB00630)	ACAGATATCCCAACATCCTTC	0.393																																					Colon(52;977 1184 20575 41685)	ENST00000254667.3																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	22						c.(496-498)ccC>ccT		protein tyrosine phosphatase, receptor type, E							106	114	111					10																	129854464		2203	4300	6503	SO:0001819	synonymous_variant	5791				negative regulation of insulin receptor signaling pathway|protein phosphorylation	cytoplasm|integral to membrane|intermediate filament cytoskeleton|nucleus|plasma membrane	transmembrane receptor protein tyrosine phosphatase activity	g.chr10:129854464C>T	AF406557	CCDS7657.1, CCDS7658.1	10q26	2011-06-09			ENSG00000132334	ENSG00000132334		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"	9669	protein-coding gene	gene with protein product		600926				8595895	Standard	NM_130435		Approved	PTPE	uc001lkb.3	P23469	OTTHUMG00000019254	ENST00000254667.3:c.498C>T	10.37:g.129854464C>T						PTPRE_ENST00000419012.2_Silent_p.P166P|PTPRE_ENST00000430713.2_Intron|PTPRE_ENST00000306042.5_Silent_p.P108P	p.P166P	NM_006504.4	NP_006495.1	P23469	PTPRE_HUMAN			7	777	+		all_epithelial(44;1.66e-05)|all_lung(145;0.00456)|Lung NSC(174;0.0066)|all_neural(114;0.0936)|Colorectal(57;0.141)|Breast(234;0.166)|Melanoma(40;0.203)	166			Tyrosine-protein phosphatase 1.		Q13345|Q5VWH3|Q5VWH4|Q96KQ6	Silent	SNP	ENST00000254667.3	37	c.498C>T	CCDS7657.1																																																																																				0.393	PTPRE-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050990.1			21	121	0	0	0	1	0	21	121					T	129854464	C	T	129854464	2	4	340	1	0	0	0	0	0	0	0	1	12800	581	21	3		3	PTPRE	10	129854464	Silent	SNP	C	TCGA-KK-A8IC-01A-11D-A364-08	5803842	129854464	5680283	14	17220											
OR4C11	219429	broad.mit.edu	37	chr11	55371196	55371196	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tttctcagtgaatgcaagatGacaatatatgaaattatcaa	17	13	6	5	0	2	4	2	3	1	1	3	4	2	4	0	0	1	1	0	0	8	4			TCGA-KK-A8IC-01A-11D-A364-08	TCGA-KK-A8IC-11A-12D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa9f4535-3165-48c4-a3be-a76526deece3	9a7279b2-607d-41b8-bee0-226b1ae34c08	g.chr11:55371196G>A	ENST00000302231.4	-	1	678	c.654C>T	c.(652-654)gtC>gtT	p.V218V		NM_001004700.2	NP_001004700.2	Q6IEV9	OR4CB_HUMAN	olfactory receptor, family 4, subfamily C, member 11	218						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(1)|large_intestine(5)|lung(23)|ovary(1)|prostate(1)|skin(1)	33						AATGCAAGATGACAATATATG	0.413																																						ENST00000302231.4																			0				endometrium(1)|kidney(1)|large_intestine(5)|lung(23)|ovary(1)|prostate(1)|skin(1)	33						c.(652-654)gtC>gtT		olfactory receptor, family 4, subfamily C, member 11							79	68	72					11																	55371196		2176	4005	6181	SO:0001819	synonymous_variant	219429				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55371196G>A	AB065774	CCDS31503.1	11q11	2012-08-09		2004-03-10	ENSG00000172188	ENSG00000172188		"GPCR / Class A : Olfactory receptors"	15167	protein-coding gene	gene with protein product				OR4C11P			Standard	NM_001004700		Approved		uc010rii.2	Q6IEV9	OTTHUMG00000165290	ENST00000302231.4:c.654C>T	11.37:g.55371196G>A							p.V218V	NM_001004700.2	NP_001004700.2	Q6IEV9	OR4CB_HUMAN			1	678	-			218					B9EIL4|Q8NGL8	Silent	SNP	ENST00000302231.4	37	c.654C>T	CCDS31503.1																																																																																				0.413	OR4C11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383268.1	NM_001004700		25	77	0	0	0	1	0	25	77					A	55371196	G	A	55371196	2	1	340	1	0	0	0	0	0	0	0	1	11045	1277	45	3		3	OR4C11	11	55371196	Silent	SNP	G	TCGA-KK-A8IC-01A-11D-A364-08		55371196	79635320	15	17221											
ERC1	23085	broad.mit.edu	37	chr12	1553813	1553813	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gacaaccctctgccatgaccGagaccccctgatcctccgtg	8	7	8	18	2	1	3	0	2	1	1	3	5	3	3	7	0	2	0	7	0	1	0			TCGA-KK-A8IC-01A-11D-A364-08	TCGA-KK-A8IC-11A-12D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa9f4535-3165-48c4-a3be-a76526deece3	9a7279b2-607d-41b8-bee0-226b1ae34c08	g.chr12:1553813G>A	ENST00000397203.2	+	18	3516	c.3110G>A	c.(3109-3111)cGa>cAa	p.R1037Q	ERC1_ENST00000355446.5_Missense_Mutation_p.R1037Q|ERC1_ENST00000589028.1_Missense_Mutation_p.R1037Q|ERC1_ENST00000546231.2_Missense_Mutation_p.R1041Q|ERC1_ENST00000360905.4_Missense_Mutation_p.R1037Q|ERC1_ENST00000543086.3_Missense_Mutation_p.R1009Q			Q8IUD2	RB6I2_HUMAN	ELKS/RAB6-interacting/CAST family member 1	1037					I-kappaB phosphorylation (GO:0007252)|multicellular organismal development (GO:0007275)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein transport (GO:0015031)|regulation of transcription, DNA-templated (GO:0006355)|retrograde transport, endosome to Golgi (GO:0042147)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|IkappaB kinase complex (GO:0008385)|presynaptic membrane (GO:0042734)	leucine zipper domain binding (GO:0043522)			NS(1)|breast(2)|cervix(2)|endometrium(2)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	38	all_epithelial(11;0.0698)|Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.00239)|BRCA - Breast invasive adenocarcinoma(9;0.0567)			TGCCATGACCGAGACCCCCTG	0.498																																						ENST00000397203.2																			0				NS(1)|breast(2)|cervix(2)|endometrium(2)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						c.(3109-3111)cGa>cAa		ELKS/RAB6-interacting/CAST family member 1							86	95	92					12																	1553813		2203	4300	6503	SO:0001583	missense	23085				I-kappaB phosphorylation|multicellular organismal development|positive regulation of anti-apoptosis|positive regulation of NF-kappaB transcription factor activity|protein transport	Golgi membrane|IkappaB kinase complex|presynaptic membrane	leucine zipper domain binding	g.chr12:1553813G>A	AB015617	CCDS8508.1, CCDS53732.1	12p13.3	2008-02-05	2006-08-14	2006-08-14	ENSG00000082805	ENSG00000082805			17072	protein-coding gene	gene with protein product		607127	"RAB6 interacting protein 2"	RAB6IP2		10697956, 11929610	Standard	NM_178040		Approved	ELKS, KIAA1081, CAST2, MGC12974	uc001qjb.2	Q8IUD2	OTTHUMG00000130138	ENST00000397203.2:c.3110G>A	12.37:g.1553813G>A	ENSP00000380386:p.Arg1037Gln					ERC1_ENST00000543086.3_Missense_Mutation_p.R1009Q|ERC1_ENST00000546231.2_Missense_Mutation_p.R1041Q|ERC1_ENST00000589028.1_Missense_Mutation_p.R1037Q|ERC1_ENST00000360905.4_Missense_Mutation_p.R1037Q|ERC1_ENST00000355446.5_Missense_Mutation_p.R1037Q	p.R1037Q			Q8IUD2	RB6I2_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00239)|BRCA - Breast invasive adenocarcinoma(9;0.0567)		18	3516	+	all_epithelial(11;0.0698)|Ovarian(42;0.107)		1037					A2RU77|A7E295|D3DUP7|D3DUP8|Q6NVK2|Q8IUD3|Q8IUD4|Q8IUD5|Q8NAS1|Q9NXN5|Q9UIK7|Q9UPS1	Missense_Mutation	SNP	ENST00000397203.2	37	c.3110G>A	CCDS8508.1	.	.	.	.	.	.	.	.	.	.	G	36	5.646270	0.96704	.	.	ENSG00000082805	ENST00000397203;ENST00000543086;ENST00000546231;ENST00000355446;ENST00000360905	T;T;T;T	0.34072	1.77;1.79;1.38;1.77	5.53	5.53	0.82687	.	0.000000	0.64402	D	0.000011	T	0.49966	0.1588	L	0.27053	0.805	0.54753	D	0.999986	D;D	0.71674	0.998;0.998	D;P	0.72982	0.979;0.689	T	0.53099	-0.8486	10	0.87932	D	0	-7.8066	19.5274	0.95212	0.0:0.0:1.0:0.0	.	1009;1037	Q8IUD2-3;Q8IUD2	.;RB6I2_HUMAN	Q	1037;1009;1037;1037;1037	ENSP00000380386:R1037Q;ENSP00000438546:R1009Q;ENSP00000347621:R1037Q;ENSP00000354158:R1037Q	ENSP00000347621:R1037Q	R	+	2	0	ERC1	1424074	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.413000	0.97351	2.618000	0.88619	0.650000	0.86243	CGA		0.498	ERC1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398380.2	NM_015064		15	65	0	0	0	1	0	15	65					A	1553813	G	A	1553813	3	1	340	1	0	0	0	0	1	0	0	0	5210	1058	37	2	3176	2	ERC1	12	1553813	Missense_Mutation	SNP	G	TCGA-KK-A8IC-01A-11D-A364-08		1553813	132298082	16	17222											
STRN3	29966	broad.mit.edu	37	chr14	31416396	31416396	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atttggttctgaattagataGtccaagtaatgaccttaccc	12	14	7	8	0	1	3	0	2	1	1	2	3	2	3	3	1	1	2	3	1	6	6			TCGA-KK-A8IC-01A-11D-A364-08	TCGA-KK-A8IC-11A-12D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa9f4535-3165-48c4-a3be-a76526deece3	9a7279b2-607d-41b8-bee0-226b1ae34c08	g.chr14:31416396G>T	ENST00000357479.5	-	5	812	c.616C>A	c.(616-618)Cta>Ata	p.L206I	STRN3_ENST00000355683.5_Missense_Mutation_p.L206I	NM_001083893.1	NP_001077362.1	Q13033	STRN3_HUMAN	striatin, calmodulin binding protein 3	206					negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to estradiol (GO:0032355)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|Golgi apparatus (GO:0005794)|neuronal cell body (GO:0043025)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	armadillo repeat domain binding (GO:0070016)|calmodulin binding (GO:0005516)|protein complex binding (GO:0032403)|protein phosphatase 2A binding (GO:0051721)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20	Hepatocellular(127;0.0877)|Breast(36;0.148)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)|BRCA - Breast invasive adenocarcinoma(188;0.0805)	GBM - Glioblastoma multiforme(265;0.0124)		GAATTAGATAGTCCAAGTAAT	0.343																																						ENST00000355683.5																			0				NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20						c.(616-618)Cta>Ata		striatin, calmodulin binding protein 3							156	149	151					14																	31416396		2203	4300	6503	SO:0001583	missense	29966				negative regulation of estrogen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|response to estradiol stimulus	cytoplasm|dendrite|Golgi apparatus|neuronal cell body|nucleoplasm|nucleus|plasma membrane|protein complex	armadillo repeat domain binding|calmodulin binding|protein complex binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity	g.chr14:31416396G>T		CCDS9641.1, CCDS41938.1	14q13-q21	2013-01-10			ENSG00000196792	ENSG00000196792		"WD repeat domain containing"	15720	protein-coding gene	gene with protein product	"cell cycle S/G2 nuclear autoantigen"	614766				7864889, 10681496	Standard	NM_014574		Approved	SG2NA	uc001wqu.2	Q13033	OTTHUMG00000140201	ENST00000357479.5:c.616C>A	14.37:g.31416396G>T	ENSP00000350071:p.Leu206Ile					STRN3_ENST00000357479.5_Missense_Mutation_p.L206I	p.L206I	NM_014574.3	NP_055389.3	Q13033	STRN3_HUMAN	LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)|BRCA - Breast invasive adenocarcinoma(188;0.0805)	GBM - Glioblastoma multiforme(265;0.0124)	5	831	-	Hepatocellular(127;0.0877)|Breast(36;0.148)		206					A2RTX7|A6NHZ7|Q9NRA5	Missense_Mutation	SNP	ENST00000357479.5	37	c.616C>A	CCDS41938.1	.	.	.	.	.	.	.	.	.	.	G	18.34	3.603194	0.66445	.	.	ENSG00000196792	ENST00000355683;ENST00000357479;ENST00000555152	D;D	0.86562	-2.14;-2.14	5.9	3.85	0.44370	.	0.000000	0.85682	D	0.000000	D	0.91462	0.7305	M	0.69823	2.125	0.58432	D	0.999999	P;D	0.63880	0.577;0.993	B;D	0.70016	0.179;0.967	D	0.89751	0.3940	10	0.44086	T	0.13	-17.7279	10.9469	0.47306	0.1714:0.0:0.8286:0.0	.	206;206	Q13033-2;Q13033	.;STRN3_HUMAN	I	206;206;87	ENSP00000347909:L206I;ENSP00000350071:L206I	ENSP00000347909:L206I	L	-	1	2	STRN3	30486147	1.000000	0.71417	0.963000	0.40424	0.996000	0.88848	4.785000	0.62418	0.641000	0.30601	0.591000	0.81541	CTA		0.343	STRN3-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409713.1	NM_014574		4	134	1	0	1	1	1	4	134					T	31416396	G	T	31416396	3	4	340	1	0	0	0	0	1	0	0	0	15329	1020	36	5	1833	5	STRN3	14	31416396	Missense_Mutation	SNP	G	TCGA-KK-A8IC-01A-11D-A364-08		31416396	75933144	17	17223											
TRPM1	4308	broad.mit.edu	37	chr15	31334212	31334212	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cagatcactctcggaggactCgtgggccatggccttgtaga	8	9	13	11	2	2	2	1	0	1	2	4	4	2	4	2	4	0	1	2	4	1	2			TCGA-KK-A8IC-01A-11D-A364-08	TCGA-KK-A8IC-11A-12D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa9f4535-3165-48c4-a3be-a76526deece3	9a7279b2-607d-41b8-bee0-226b1ae34c08	g.chr15:31334212C>T	ENST00000256552.6	-	17	2176	c.2029G>A	c.(2029-2031)Gag>Aag	p.E677K	TRPM1_ENST00000397795.2_Missense_Mutation_p.E655K|RP11-348B17.1_ENST00000561299.1_RNA|TRPM1_ENST00000542188.1_Missense_Mutation_p.E694K	NM_001252024.1	NP_001238953.1			transient receptor potential cation channel, subfamily M, member 1											NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		TCGGAGGACTCGTGGGCCATG	0.547																																						ENST00000542188.1																			0				NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99						c.(2080-2082)Gag>Aag		transient receptor potential cation channel, subfamily M, member 1							67	72	70					15																	31334212		2168	4292	6460	SO:0001583	missense	4308				cellular response to light stimulus|visual perception	integral to plasma membrane	calcium channel activity|receptor activity	g.chr15:31334212C>T	AF071787	CCDS10024.2, CCDS58345.1, CCDS58346.1, CCDS58347.1	15q13.3	2014-01-28		2002-01-18	ENSG00000134160	ENSG00000134160		"Voltage-gated ion channels / Transient receptor potential cation channels"	7146	protein-coding gene	gene with protein product		603576	"melastatin 1"	MLSN1		9806836, 9537257, 16382100	Standard	NM_001252020		Approved	LTRPC1, CSNB1C	uc021sia.1	Q7Z4N2	OTTHUMG00000129267	ENST00000256552.6:c.2029G>A	15.37:g.31334212C>T	ENSP00000256552:p.Glu677Lys					TRPM1_ENST00000256552.6_Missense_Mutation_p.E677K|RP11-348B17.1_ENST00000561299.1_RNA|TRPM1_ENST00000397795.2_Missense_Mutation_p.E655K	p.E694K	NM_001252020.1	NP_001238949.1	Q7Z4N2	TRPM1_HUMAN		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)	16	2393	-		all_lung(180;1.92e-11)	655						Missense_Mutation	SNP	ENST00000256552.6	37	c.2080G>A	CCDS58346.1	.	.	.	.	.	.	.	.	.	.	C	35	5.465571	0.96257	.	.	ENSG00000134160	ENST00000397795;ENST00000542188;ENST00000256552;ENST00000397793	T;T;T	0.65916	-0.18;-0.18;-0.18	4.72	4.72	0.59763	.	0.000000	0.85682	D	0.000000	T	0.79587	0.4471	M	0.74546	2.27	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	T	0.82784	-0.0286	10	0.87932	D	0	-31.1684	18.0463	0.89334	0.0:1.0:0.0:0.0	.	649;655	Q7Z4N2-3;Q7Z4N2	.;TRPM1_HUMAN	K	655;694;677;655	ENSP00000380897:E655K;ENSP00000437849:E694K;ENSP00000256552:E677K	ENSP00000256552:E677K	E	-	1	0	TRPM1	29121504	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	7.754000	0.85163	2.304000	0.77564	0.655000	0.94253	GAG		0.547	TRPM1-004	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417166.2	NM_002420		12	66	0	0	0	1	0	12	66					T	31334212	C	T	31334212	3	4	340	1	0	0	0	0	1	0	0	0	16582	893	31	2	2896	2	TRPM1	15	31334212	Missense_Mutation	SNP	C	TCGA-KK-A8IC-01A-11D-A364-08		31334212	71197180	18	17224											
CSPG4	1464	broad.mit.edu	37	chr15	75981427	75981427	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtggatctgtatggccggcCggatggccaccaccttcagc	6	8	14	13	2	2	0	1	0	1	0	2	2	2	2	5	6	1	1	5	6	1	2	rs142305247	byFrequency	TCGA-KK-A8IC-01A-11D-A364-08	TCGA-KK-A8IC-11A-12D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa9f4535-3165-48c4-a3be-a76526deece3	9a7279b2-607d-41b8-bee0-226b1ae34c08	g.chr15:75981427C>T	ENST00000308508.5	-	3	2071	c.1979G>A	c.(1978-1980)cGg>cAg	p.R660Q		NM_001897.4	NP_001888.2	Q6UVK1	CSPG4_HUMAN	chondroitin sulfate proteoglycan 4	660	Gly/Ser-rich (glycosaminoglycan attachment domain).|Interaction with COL5A1. {ECO:0000250}.|Interaction with COL6A2. {ECO:0000250}.				activation of MAPK activity (GO:0000187)|angiogenesis (GO:0001525)|carbohydrate metabolic process (GO:0005975)|cell proliferation (GO:0008283)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|intracellular signal transduction (GO:0035556)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|small molecule metabolic process (GO:0044281)|tissue remodeling (GO:0048771)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell projection (GO:0042995)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)	protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)			breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4)	48						TATGGCCGGCCGGATGGCCAC	0.662													C|||	4	0.000798722	0.003	0	5008	,	,		17031	0		0	False		,,,				2504	0					ENST00000308508.5																			0				breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4)	48						c.(1978-1980)cGg>cAg		chondroitin sulfate proteoglycan 4		C	GLN/ARG	7,4387		0,7,2190	41	42	42		1979	1.4	0.8	15	dbSNP_134	42	6,8576		0,6,4285	no	missense	CSPG4	NM_001897.4	43	0,13,6475	TT,TC,CC		0.0699,0.1593,0.1002	possibly-damaging	660/2323	75981427	13,12963	2197	4291	6488	SO:0001583	missense	1464				angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling	apical plasma membrane|cell surface|integral to plasma membrane|intracellular|lamellipodium membrane	protein kinase binding|signal transducer activity	g.chr15:75981427C>T	X96753, AY359468	CCDS10284.1	15q24.2	2010-04-19	2007-02-16		ENSG00000173546	ENSG00000173546		"Proteoglycans / Cell surface : Other"	2466	protein-coding gene	gene with protein product	"melanoma-associated chondroitin sulfate proteoglycan"	601172	"chondroitin sulfate proteoglycan 4 (melanoma-associated)"			8790396, 16407841	Standard	NM_001897		Approved	MCSPG, MEL-CSPG, MSK16, NG2, MCSP, HMW-MAA	uc002baw.3	Q6UVK1	OTTHUMG00000142836	ENST00000308508.5:c.1979G>A	15.37:g.75981427C>T	ENSP00000312506:p.Arg660Gln						p.R660Q	NM_001897.4	NP_001888.2	Q6UVK1	CSPG4_HUMAN			3	2071	-			660			Gly/Ser-rich (glycosaminoglycan attachment domain).|Interaction with COL5A1 (By similarity).|Interaction with COL6A2 (By similarity).		D3DW77|Q92675	Missense_Mutation	SNP	ENST00000308508.5	37	c.1979G>A	CCDS10284.1	.	.	.	.	.	.	.	.	.	.	.	3.810	-0.039833	0.07497	0.001593	6.99E-4	ENSG00000173546	ENST00000308508	T	0.40476	1.03	5.35	1.35	0.21983	.	0.514629	0.18634	N	0.135488	T	0.20047	0.0482	L	0.31207	0.915	0.27661	N	0.94707	P	0.36412	0.552	B	0.23419	0.046	T	0.15009	-1.0452	10	0.12103	T	0.63	.	6.9388	0.24481	0.0:0.507:0.0:0.493	.	660	Q6UVK1	CSPG4_HUMAN	Q	660	ENSP00000312506:R660Q	ENSP00000312506:R660Q	R	-	2	0	CSPG4	73768482	0.993000	0.37304	0.801000	0.32222	0.076000	0.17211	1.162000	0.31786	0.641000	0.30601	-0.266000	0.10368	CGG		0.662	CSPG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286472.1	NM_001897		3	49	0	0	0	1	0	3	49					T	75981427	C	T	75981427	3	4	340	1	0	0	0	0	1	0	0	0	3960	652	23	2	5021	2	CSPG4	15	75981427	Missense_Mutation	SNP	C	TCGA-KK-A8IC-01A-11D-A364-08	44647215	75981427	26549965	19	17225											
ZNF521	25925	broad.mit.edu	37	chr18	22806306	22806306	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatatgctcttccagggaagAgtcagtgagaaaccccatat	14	9	9	9	0	2	2	1	1	1	2	3	4	3	3	3	1	2	1	3	1	5	3	rs371804263		TCGA-KK-A8IC-01A-11D-A364-08	TCGA-KK-A8IC-11A-12D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa9f4535-3165-48c4-a3be-a76526deece3	9a7279b2-607d-41b8-bee0-226b1ae34c08	g.chr18:22806306A>G	ENST00000361524.3	-	4	1724	c.1576T>C	c.(1576-1578)Tct>Cct	p.S526P	ZNF521_ENST00000538137.2_Missense_Mutation_p.S526P|ZNF521_ENST00000579111.1_5'Flank|ZNF521_ENST00000584787.1_Missense_Mutation_p.S306P	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521	526					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein domain specific binding (GO:0019904)			NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					TCCAGGGAAGAGTCAGTGAGA	0.463			T	PAX5	ALL																																	ENST00000361524.3				Dom	yes		18	18q11.2	25925	T	zinc finger protein 521			L	PAX5		ALL		0				NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149						c.(1576-1578)Tct>Cct		zinc finger protein 521							74	80	78					18																	22806306		2203	4300	6503	SO:0001583	missense	25925				cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein domain specific binding|zinc ion binding	g.chr18:22806306A>G	AK027354	CCDS32806.1	18q11.2	2013-01-08				ENSG00000198795		"Zinc fingers, C2H2-type"	24605	protein-coding gene	gene with protein product	"early hematopoietic zinc finger"	610974				11984006, 14630787	Standard	NM_015461		Approved	EHZF, Evi3	uc002kvk.2	Q96K83		ENST00000361524.3:c.1576T>C	18.37:g.22806306A>G	ENSP00000354794:p.Ser526Pro					ZNF521_ENST00000584787.1_Missense_Mutation_p.S306P|ZNF521_ENST00000538137.2_Missense_Mutation_p.S526P	p.S526P	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN			4	1724	-	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)		526					A3QVP7|B0YJB7|Q8IXI0|Q8TES6|Q9C065|Q9HAL5|Q9UFK4	Missense_Mutation	SNP	ENST00000361524.3	37	c.1576T>C	CCDS32806.1	.	.	.	.	.	.	.	.	.	.	A	6.689	0.495797	0.12762	.	.	ENSG00000198795	ENST00000361524;ENST00000538137;ENST00000399425	T;T	0.32988	1.43;1.43	5.87	5.87	0.94306	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);	0.165254	0.56097	D	0.000031	T	0.34483	0.0899	L	0.27053	0.805	0.34889	D	0.745333	P	0.37781	0.608	P	0.46975	0.533	T	0.49735	-0.8908	10	0.66056	D	0.02	-18.871	16.2847	0.82712	1.0:0.0:0.0:0.0	.	526	Q96K83	ZN521_HUMAN	P	526;560;526	ENSP00000354794:S526P;ENSP00000382352:S526P	ENSP00000354794:S526P	S	-	1	0	ZNF521	21060304	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.157000	0.42320	2.242000	0.73789	0.528000	0.53228	TCT		0.463	ZNF521-001	KNOWN	overlapping_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446781.2	NM_015461		14	45	0	0	0	1	0	14	45					G	22806306	A	G	22806306	3	3	340	1	0	0	0	0	1	0	0	0	17962	304	11	4	2379	4	ZNF521	18	22806306	Missense_Mutation	SNP	A	TCGA-KK-A8IC-01A-11D-A364-08		22806306	55270942	20	17226											
MUC16	94025	broad.mit.edu	37	chr19	9045763	9045763	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctcactccttctccatgactGgttttaggtggtgttggcat	5	16	10	10	0	2	1	1	1	1	0	4	1	3	1	2	4	0	3	2	4	1	4			TCGA-KK-A8IC-01A-11D-A364-08	TCGA-KK-A8IC-11A-12D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa9f4535-3165-48c4-a3be-a76526deece3	9a7279b2-607d-41b8-bee0-226b1ae34c08	g.chr19:9045763G>A	ENST00000397910.4	-	5	36071	c.35868C>T	c.(35866-35868)acC>acT	p.T11956T		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	11958	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CTCCATGACTGGTTTTAGGTG	0.478																																						ENST00000397910.4																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(35866-35868)acC>acT		mucin 16, cell surface associated							200	190	193					19																	9045763		1976	4163	6139	SO:0001819	synonymous_variant	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9045763G>A	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.35868C>T	19.37:g.9045763G>A							p.T11956T	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			5	36071	-			11958			Thr-rich.		Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	c.35868C>T	CCDS54212.1																																																																																				0.478	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		13	54	0	0	0	1	0	13	54					A	9045763	G	A	9045763	2	1	340	1	0	0	0	0	0	0	0	1	9973	1335	47	3		3	MUC16	19	9045763	Silent	SNP	G	TCGA-KK-A8IC-01A-11D-A364-08		9045763	50083220	21	17227											
TRIM28	10155	broad.mit.edu	37	chr19	59060418	59060418	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtgccacgagtgagccttgaAcgcctggacctggacctcac	8	7	12	14	2	1	2	1	2	0	0	1	5	1	4	5	2	3	0	5	2	1	1			TCGA-KK-A8IC-01A-11D-A364-08	TCGA-KK-A8IC-11A-12D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa9f4535-3165-48c4-a3be-a76526deece3	9a7279b2-607d-41b8-bee0-226b1ae34c08	g.chr19:59060418A>T	ENST00000253024.5	+	12	1762	c.1473A>T	c.(1471-1473)gaA>gaT	p.E491D	TRIM28_ENST00000341753.6_Missense_Mutation_p.E409D	NM_005762.2	NP_005753.1	Q13263	TIF1B_HUMAN	tripartite motif containing 28	491	HP1 box.				convergent extension involved in axis elongation (GO:0060028)|DNA repair (GO:0006281)|embryonic placenta morphogenesis (GO:0060669)|epithelial to mesenchymal transition (GO:0001837)|gene expression (GO:0010467)|innate immune response (GO:0045087)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of viral release from host cell (GO:1902187)|positive regulation of DNA repair (GO:0045739)|positive regulation of transcription factor import into nucleus (GO:0042993)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autophosphorylation (GO:0046777)|protein oligomerization (GO:0051259)|protein sumoylation (GO:0016925)|protein ubiquitination (GO:0016567)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nuclear euchromatin (GO:0005719)|nuclear heterochromatin (GO:0005720)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|Krueppel-associated box domain binding (GO:0035851)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			biliary_tract(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|urinary_tract(1)	19		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.0434)|all cancers(4;1.39e-13)|Epithelial(4;1.01e-10)|OV - Ovarian serous cystadenocarcinoma(4;2.34e-09)|GBM - Glioblastoma multiforme(193;0.0102)|Lung(386;0.179)		TGAGCCTTGAACGCCTGGACC	0.582																																						ENST00000253024.5																			0				biliary_tract(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|urinary_tract(1)	19						c.(1471-1473)gaA>gaT		tripartite motif containing 28							72	69	70					19																	59060418		2203	4300	6503	SO:0001583	missense	10155				epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent	nucleoplasm	chromo shadow domain binding|ligase activity|transcription corepressor activity|zinc ion binding	g.chr19:59060418A>T		CCDS12985.1	19q13.4	2014-06-13	2011-01-25			ENSG00000130726		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers", "Zinc fingers, PHD-type"	16384	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 157"	601742	"tripartite motif-containing 28"			11331580, 11226167	Standard	NM_005762		Approved	TIF1B, KAP1, TF1B, RNF96, PPP1R157	uc002qtg.1	Q13263		ENST00000253024.5:c.1473A>T	19.37:g.59060418A>T	ENSP00000253024:p.Glu491Asp					TRIM28_ENST00000341753.6_Missense_Mutation_p.E409D	p.E491D	NM_005762.2	NP_005753.1	Q13263	TIF1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.0434)|all cancers(4;1.39e-13)|Epithelial(4;1.01e-10)|OV - Ovarian serous cystadenocarcinoma(4;2.34e-09)|GBM - Glioblastoma multiforme(193;0.0102)|Lung(386;0.179)	12	1762	+		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)	491			HP1 box.		O00677|Q7Z632|Q93040|Q96IM1	Missense_Mutation	SNP	ENST00000253024.5	37	c.1473A>T	CCDS12985.1	.	.	.	.	.	.	.	.	.	.	A	13.98	2.397792	0.42512	.	.	ENSG00000130726	ENST00000253024;ENST00000341753	T;T	0.70282	-0.24;-0.47	4.95	2.79	0.32731	.	0.000000	0.64402	D	0.000008	T	0.52354	0.1729	N	0.19112	0.55	0.32690	N	0.51429	P;P;P	0.51933	0.849;0.949;0.765	P;B;B	0.44561	0.453;0.153;0.265	T	0.59484	-0.7446	10	0.40728	T	0.16	-25.0094	4.9551	0.14035	0.4648:0.0:0.5352:0.0	.	409;491;491	Q13263-2;B2R8R5;Q13263	.;.;TIF1B_HUMAN	D	491;409	ENSP00000253024:E491D;ENSP00000342232:E409D	ENSP00000253024:E491D	E	+	3	2	TRIM28	63752230	1.000000	0.71417	0.973000	0.42090	0.010000	0.07245	0.570000	0.23653	0.400000	0.25396	0.448000	0.29417	GAA		0.582	TRIM28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467074.1	NM_005762		4	15	0	0	0	1	0	4	15					T	59060418	A	T	59060418	3	4	340	1	0	0	0	0	1	0	0	0	16499	40	2	5	1519	5	TRIM28	19	59060418	Missense_Mutation	SNP	A	TCGA-KK-A8IC-01A-11D-A364-08	50014655	59060418	68565	22	17228											
MAGEC1	9947	broad.mit.edu	37	chrX	140994844	140994846	+	In_Frame_Del	DEL	CCT	CCT	-																															ctcactactttcctcagagcCctcctcagggggaggactcc																								rs377463560		TCGA-KK-A8IC-01A-11D-A364-08	TCGA-KK-A8IC-11A-12D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa9f4535-3165-48c4-a3be-a76526deece3	9a7279b2-607d-41b8-bee0-226b1ae34c08	g.chrX:140994844_140994846delCCT	ENST00000285879.4	+	4	1940_1942	c.1654_1656delCCT	c.(1654-1656)cctdel	p.P553del	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	553										breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					TCCTCAGAGCCCTCCTCAGGGGG	0.567										HNSCC(15;0.026)																												ENST00000285879.4																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127						c.(1654-1656)del		melanoma antigen family C, 1																																				SO:0001651	inframe_deletion	9947						protein binding	g.chrX:140994844_140994846delCCT	AF064589	CCDS35417.1	Xq26	2009-03-18			ENSG00000155495	ENSG00000155495			6812	protein-coding gene	gene with protein product	"cancer/testis antigen family 7, member 1"	300223				9485030, 9618514	Standard	NM_005462		Approved	MAGE-C1, CT7, MGC39366, CT7.1	uc004fbt.3	O60732	OTTHUMG00000022569	ENST00000285879.4:c.1654_1656delCCT	X.37:g.140994847_140994849delCCT	ENSP00000285879:p.Pro553del	HNSCC(15;0.026)				MAGEC1_ENST00000406005.2_Intron	p.P553del	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN			4	1940_1942	+	Acute lymphoblastic leukemia(192;6.56e-05)		553					A0PK03|O75451|Q8TCV4	In_Frame_Del	DEL	ENST00000285879.4	37	c.1654_1656delCCT	CCDS35417.1																																																																																				0.567	MAGEC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058604.1	NM_005462		7	179						7	179	---	---	---	---	-	140994846	CCT	-	140994844	7	5	340	1	0	1	0	1	0	0	0	0	9180	623	22	0	1660	0	MAGEC1	23	140994844	In_Frame_Del	DEL	CCT	TCGA-KK-A8IC-01A-11D-A364-08		140994844	14275716	23	17229											
CAMTA1	23261	broad.mit.edu	37	chr1	7724777	7724777	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actacctgcagccggagaccAacggggtaatccgaagcgcc	11	4	12	14	4	0	1	0	0	0	1	1	3	1	1	5	3	5	2	5	3	4	2			TCGA-KK-A8ID-01A-11D-A364-08	TCGA-KK-A8ID-11A-12D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	434c8d21-e732-4485-a382-84e8abf8bdb5	686e0817-587f-49c3-b654-8141a09dd79b	g.chr1:7724777A>T	ENST00000303635.7	+	9	2377	c.2170A>T	c.(2170-2172)Aac>Tac	p.N724Y	CAMTA1_ENST00000439411.2_Missense_Mutation_p.N724Y	NM_015215.2	NP_056030.1	Q9Y6Y1	CMTA1_HUMAN	calmodulin binding transcription activator 1	724					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		GCCGGAGACCAACGGGGTAAT	0.682			T	WWTR1	epitheliod hemangioendothelioma																																	ENST00000303635.7				Dom	yes		1	1p36.31-p36.23	611501	T	calmodulin binding transcription activator 1			M	WWTR1		epitheliod hemangioendothelioma		0				breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85						c.(2170-2172)Aac>Tac		calmodulin binding transcription activator 1							38	47	44					1																	7724777		2203	4300	6503	SO:0001583	missense	23261				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding	g.chr1:7724777A>T	AB020640	CCDS30576.1, CCDS55574.1, CCDS55575.1	1p36.31-p36.23	2008-07-18			ENSG00000171735	ENSG00000171735			18806	protein-coding gene	gene with protein product		611501				11925432	Standard	NM_001195563		Approved	KIAA0833	uc001aoi.3	Q9Y6Y1	OTTHUMG00000001212	ENST00000303635.7:c.2170A>T	1.37:g.7724777A>T	ENSP00000306522:p.Asn724Tyr					CAMTA1_ENST00000439411.2_Missense_Mutation_p.N724Y	p.N724Y	NM_015215.2	NP_056030.1	Q9Y6Y1	CMTA1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)	9	2377	+	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)	724					A7MBM4|G3V3Z7|Q5VUE1|Q6V701|Q8WYI3|Q96S92	Missense_Mutation	SNP	ENST00000303635.7	37	c.2170A>T	CCDS30576.1	.	.	.	.	.	.	.	.	.	.	a	9.300	1.052785	0.19907	.	.	ENSG00000171735	ENST00000303635;ENST00000439411	T;T	0.24908	1.83;1.83	5.43	3.0	0.34707	.	1.145010	0.06354	N	0.710416	T	0.29652	0.0740	L	0.44542	1.39	0.37020	D	0.89614	P	0.39624	0.681	B	0.40782	0.34	T	0.06552	-1.0820	10	0.87932	D	0	-11.5049	12.1227	0.53900	0.7004:0.2996:0.0:0.0	.	724	Q9Y6Y1	CMTA1_HUMAN	Y	724	ENSP00000306522:N724Y;ENSP00000402561:N724Y	ENSP00000306522:N724Y	N	+	1	0	CAMTA1	7647364	0.995000	0.38212	0.046000	0.18839	0.547000	0.35210	2.652000	0.46682	0.320000	0.23234	0.448000	0.29417	AAC		0.682	CAMTA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000003588.3	NM_015215		17	61	0	0	0	1	0	17	61					T	7724777	A	T	7724777	3	4	341	1	0	0	0	0	1	0	0	0	2613	130	5	5	2204	5	CAMTA1	1	7724777	Missense_Mutation	SNP	A	TCGA-KK-A8ID-01A-11D-A364-08		7724777	241525844	1	17230											
KIF1B	23095	broad.mit.edu	37	chr1	10364565	10364566	+	Intron	INS	-	-	A																															taattataacactggaggtcINSagttagagggcaatgcagcc																										TCGA-KK-A8ID-01A-11D-A364-08	TCGA-KK-A8ID-11A-12D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	434c8d21-e732-4485-a382-84e8abf8bdb5	686e0817-587f-49c3-b654-8141a09dd79b	g.chr1:10364565_10364566insA	ENST00000377086.1	+	22	2317				KIF1B_ENST00000377081.1_Intron|KIF1B_ENST00000377083.1_Frame_Shift_Ins_p.Q1108fs|KIF1B_ENST00000377093.4_Frame_Shift_Ins_p.Q1108fs|KIF1B_ENST00000263934.6_Intron|RN7SL731P_ENST00000584329.1_RNA			O60333	KIF1B_HUMAN	kinesin family member 1B						anterograde axon cargo transport (GO:0008089)|apoptotic process (GO:0006915)|cytoskeleton-dependent intracellular transport (GO:0030705)|microtubule-based movement (GO:0007018)|mitochondrion transport along microtubule (GO:0047497)|neuromuscular synaptic transmission (GO:0007274)|neuron-neuron synaptic transmission (GO:0007270)|vesicle-mediated transport (GO:0016192)	cytoplasmic vesicle (GO:0031410)|cytoplasmic vesicle membrane (GO:0030659)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|kinesin binding (GO:0019894)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)			breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2)	71	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)		CACTGGAGGTCAGTTAGAGGGC	0.505																																						ENST00000377093.4																			0				breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2)	71						c.(3322-3324)gttfs		kinesin family member 1B																																				SO:0001627	intron_variant	23095				anterograde axon cargo transport|apoptosis|neuromuscular synaptic transmission|neuron-neuron synaptic transmission	cytoplasmic vesicle membrane|microtubule|microtubule associated complex|mitochondrion	ATP binding|ATPase activity|kinesin binding|microtubule motor activity|protein binding	g.chr1:10364565_10364566insA	AF257176	CCDS111.1, CCDS112.1	1p36.22	2014-09-17			ENSG00000054523	ENSG00000054523		"Kinesins", "Pleckstrin homology (PH) domain containing"	16636	protein-coding gene	gene with protein product		605995		CMT2A, CMT2		11389829, 10762626	Standard	NM_015074		Approved	KIAA0591, KLP, HMSNII	uc001aqw.4	O60333	OTTHUMG00000001817	ENST00000377086.1:c.2115+7261->A	1.37:g.10364566_10364566dupA						KIF1B_ENST00000377081.1_Intron|KIF1B_ENST00000377086.1_Intron|KIF1B_ENST00000263934.6_Intron|KIF1B_ENST00000377083.1_Frame_Shift_Ins_p.V1108fs	p.V1108fs	NM_183416.3	NP_904325.2	O60333	KIF1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)	21	3475_3476	+	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)	0					A6NFS8|A6NKQ4|Q4VXC3|Q4VXC4|Q4VXC5|Q4VXC6|Q96Q94|Q9BV80|Q9P280	Frame_Shift_Ins	INS	ENST00000377086.1	37	c.3322_3323insA																																																																																					0.505	KIF1B-001	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000005102.1			35	29						35	29	---	---	---	---	A	10364566	-	A	10364565	6	5	341	0	1	1	1	0	0	0	0	0	8284	827	29	0		0	KIF1B	1	10364565	Intron	INS	-	TCGA-KK-A8ID-01A-11D-A364-08	2639788	10364565	238886056	2	17231											
ECE1	1889	broad.mit.edu	37	chr1	21548284	21548284	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctggttattggtgaggcccaGggtggggagcgagtgctcag	6	9	19	7	1	1	1	1	1	0	0	1	3	1	2	1	6	2	2	1	6	1	2			TCGA-KK-A8ID-01A-11D-A364-08	TCGA-KK-A8ID-11A-12D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	434c8d21-e732-4485-a382-84e8abf8bdb5	686e0817-587f-49c3-b654-8141a09dd79b	g.chr1:21548284G>C	ENST00000374893.6	-	18	2166	c.2092C>G	c.(2092-2094)Ctg>Gtg	p.L698V	ECE1_ENST00000357071.4_Missense_Mutation_p.L686V|ECE1_ENST00000415912.2_Missense_Mutation_p.L682V|ECE1_ENST00000264205.6_Missense_Mutation_p.L695V|ECE1_ENST00000436918.2_Intron	NM_001397.2	NP_001388.1	P42892	ECE1_HUMAN	endothelin converting enzyme 1	698					bradykinin catabolic process (GO:0010815)|calcitonin catabolic process (GO:0010816)|ear development (GO:0043583)|embryonic digit morphogenesis (GO:0042733)|endothelin maturation (GO:0034959)|heart development (GO:0007507)|hormone catabolic process (GO:0042447)|peptide hormone processing (GO:0016486)|pharyngeal system development (GO:0060037)|positive regulation of receptor recycling (GO:0001921)|protein processing (GO:0016485)|regulation of systemic arterial blood pressure by endothelin (GO:0003100)|regulation of vasoconstriction (GO:0019229)|substance P catabolic process (GO:0010814)	early endosome (GO:0005769)|endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intrinsic component of endosome membrane (GO:0031302)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|vesicle (GO:0031982)|Weibel-Palade body (GO:0033093)	endopeptidase activity (GO:0004175)|metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)|peptide hormone binding (GO:0017046)|protein homodimerization activity (GO:0042803)			endometrium(5)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)	25		Lung NSC(340;1.14e-05)|all_lung(284;1.23e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00147)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0183)|OV - Ovarian serous cystadenocarcinoma(117;4.83e-27)|COAD - Colon adenocarcinoma(152;1.36e-06)|GBM - Glioblastoma multiforme(114;1.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000162)|STAD - Stomach adenocarcinoma(196;0.00326)|KIRC - Kidney renal clear cell carcinoma(1967;0.00755)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.206)		GTGAGGCCCAGGGTGGGGAGC	0.537																																						ENST00000415912.2																			0				endometrium(5)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)	25						c.(2044-2046)Ctg>Gtg		endothelin converting enzyme 1							208	204	205					1																	21548284		2203	4300	6503	SO:0001583	missense	1889				bradykinin catabolic process|calcitonin catabolic process|ear development|embryonic digit morphogenesis|endothelin maturation|heart development|positive regulation of receptor recycling|substance P catabolic process	early endosome|external side of plasma membrane|integral to membrane|intrinsic to endosome membrane|membrane fraction|perinuclear region of cytoplasm|plasma membrane|Weibel-Palade body	metal ion binding|metalloendopeptidase activity|protein homodimerization activity	g.chr1:21548284G>C	D49471	CCDS215.1, CCDS44081.1, CCDS44082.1, CCDS44083.1	1p36.1	2008-02-05			ENSG00000117298	ENSG00000117298			3146	protein-coding gene	gene with protein product		600423		ECE		7805846, 7864876, 17592116	Standard	NM_001397		Approved		uc001bei.2	P42892	OTTHUMG00000002625	ENST00000374893.6:c.2092C>G	1.37:g.21548284G>C	ENSP00000364028:p.Leu698Val					ECE1_ENST00000374893.6_Missense_Mutation_p.L698V|ECE1_ENST00000357071.4_Missense_Mutation_p.L686V|ECE1_ENST00000436918.2_Intron|ECE1_ENST00000264205.6_Missense_Mutation_p.L695V	p.L682V	NM_001113348.1	NP_001106819.1	P42892	ECE1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0183)|OV - Ovarian serous cystadenocarcinoma(117;4.83e-27)|COAD - Colon adenocarcinoma(152;1.36e-06)|GBM - Glioblastoma multiforme(114;1.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000162)|STAD - Stomach adenocarcinoma(196;0.00326)|KIRC - Kidney renal clear cell carcinoma(1967;0.00755)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.206)	18	2169	-		Lung NSC(340;1.14e-05)|all_lung(284;1.23e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00147)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)	698					A8K3P1|B4E291|Q14217|Q17RN5|Q2Z2K8|Q58GE7|Q5THM5|Q5THM7|Q5THM8|Q9UJQ6|Q9UPF4|Q9UPM4|Q9Y501	Missense_Mutation	SNP	ENST00000374893.6	37	c.2044C>G	CCDS215.1	.	.	.	.	.	.	.	.	.	.	G	11.27	1.588284	0.28357	.	.	ENSG00000117298	ENST00000415912;ENST00000357071;ENST00000374893;ENST00000264205	D;D;D;D	0.91792	-2.91;-2.91;-2.91;-2.91	5.53	4.61	0.57282	Peptidase M13, neprilysin, C-terminal (1);Metallopeptidase, catalytic domain (1);	0.070932	0.64402	D	0.000015	D	0.86184	0.5872	L	0.35542	1.07	0.58432	D	0.999992	B;B;B;B	0.20052	0.041;0.011;0.033;0.033	B;B;B;B	0.30572	0.117;0.066;0.071;0.071	T	0.78283	-0.2264	10	0.14252	T	0.57	-20.0193	9.2789	0.37716	0.0787:0.1436:0.7777:0.0	.	682;698;686;695	Q2Z2K8;P42892;P42892-2;P42892-4	.;ECE1_HUMAN;.;.	V	682;686;698;695	ENSP00000405088:L682V;ENSP00000349581:L686V;ENSP00000364028:L698V;ENSP00000264205:L695V	ENSP00000264205:L695V	L	-	1	2	ECE1	21420871	0.998000	0.40836	1.000000	0.80357	0.798000	0.45092	2.594000	0.46189	2.604000	0.88044	0.557000	0.71058	CTG		0.537	ECE1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000007470.2	NM_001397		8	215	0	0	0	1	0	8	215					C	21548284	G	C	21548284	3	2	341	1	0	0	0	0	1	0	0	0	4889	991	35	5	228	5	ECE1	1	21548284	Missense_Mutation	SNP	G	TCGA-KK-A8ID-01A-11D-A364-08	11183719	21548284	227702337	3	17232											
MYOM3	127294	broad.mit.edu	37	chr1	24417440	24417440	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggcaccgacaagtccctcCgggggcctcatggcaggcga	7	5	15	14	3	1	0	1	0	0	0	3	2	3	0	4	5	0	2	4	5	1	0	rs200218911	byFrequency	TCGA-KK-A8ID-01A-11D-A364-08	TCGA-KK-A8ID-11A-12D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	434c8d21-e732-4485-a382-84e8abf8bdb5	686e0817-587f-49c3-b654-8141a09dd79b	g.chr1:24417440C>T	ENST00000374434.3	-	12	1441	c.1279G>A	c.(1279-1281)Gga>Aga	p.G427R	MYOM3_ENST00000475306.1_5'UTR|MYOM3_ENST00000329601.7_Missense_Mutation_p.G427R|MYOM3_ENST00000330966.7_Missense_Mutation_p.G428R	NM_152372.3	NP_689585.3	Q5VTT5	MYOM3_HUMAN	myomesin 3	427	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.					M band (GO:0031430)	protein homodimerization activity (GO:0042803)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	68		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)		CAAGTCCCTCCGGGGGCCTCA	0.642													C|||	2	0.000399361	8e-04	0	5008	,	,		16880	0		0.001	False		,,,				2504	0					ENST00000330966.7																			0				NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	68						c.(1282-1284)Gga>Aga		myomesin 3		C	ARG/GLY	0,3972		0,0,1986	74	81	79		1279	4.4	1	1		79	3,8285		0,3,4141	no	missense	MYOM3	NM_152372.3	125	0,3,6127	TT,TC,CC		0.0362,0.0,0.0245	possibly-damaging	427/1438	24417440	3,12257	1986	4144	6130	SO:0001583	missense	127294							g.chr1:24417440C>T	AK093280	CCDS41281.1	1p36	2013-02-11	2012-10-17		ENSG00000142661	ENSG00000142661		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	26679	protein-coding gene	gene with protein product			"myomesin family, member 3"			18177667	Standard	NM_152372		Approved	FLJ35961	uc001bin.4	Q5VTT5	OTTHUMG00000002969	ENST00000374434.3:c.1279G>A	1.37:g.24417440C>T	ENSP00000363557:p.Gly427Arg					MYOM3_ENST00000475306.1_5'UTR|MYOM3_ENST00000374434.3_Missense_Mutation_p.G427R|MYOM3_ENST00000329601.7_Missense_Mutation_p.G427R	p.G428R			Q5VTT5	MYOM3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)	12	1444	-		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)	427			Fibronectin type-III 1.		A6NF75|Q5VTT6|Q6AWC0|Q6AWC1|Q6NXF9|Q6ZRG7|Q7Z3G9|Q8NA11|Q96C54	Missense_Mutation	SNP	ENST00000374434.3	37	c.1282G>A	CCDS41281.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	10.85	1.466782	0.26335	0.0	3.62E-4	ENSG00000142661	ENST00000374434;ENST00000330966;ENST00000329601	T;T;T	0.56444	0.46;0.46;0.46	5.3	4.36	0.52297	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.526989	0.22064	N	0.065122	T	0.38401	0.1039	N	0.25144	0.715	0.09310	N	1	B;B;B	0.25563	0.057;0.029;0.129	B;B;B	0.26094	0.066;0.027;0.051	T	0.35525	-0.9785	10	0.62326	D	0.03	.	9.8647	0.41136	0.0:0.8305:0.0:0.1695	.	84;427;427	Q6ZU56;Q5VTT5-2;Q5VTT5	.;.;MYOM3_HUMAN	R	427;428;427	ENSP00000363557:G427R;ENSP00000332670:G428R;ENSP00000328415:G427R	ENSP00000328415:G427R	G	-	1	0	MYOM3	24290027	0.033000	0.19621	0.957000	0.39632	0.967000	0.64934	1.419000	0.34793	1.169000	0.42739	0.563000	0.77884	GGA		0.642	MYOM3-001	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000008272.2	NM_152372		22	28	0	0	0	1	0	22	28					T	24417440	C	T	24417440	3	4	341	1	0	0	0	0	1	0	0	0	10093	661	23	2	3138	2	MYOM3	1	24417440	Missense_Mutation	SNP	C	TCGA-KK-A8ID-01A-11D-A364-08	2869156	24417440	224833181	4	17233											
GPATCH3	63906	broad.mit.edu	37	chr1	27226496	27226496	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctcttacctgatgcctccgtAggtagccgaagtctgcggat	7	11	11	12	3	2	1	0	1	2	0	3	3	3	2	4	2	4	2	4	2	4	3			TCGA-KK-A8ID-01A-11D-A364-08	TCGA-KK-A8ID-11A-12D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	434c8d21-e732-4485-a382-84e8abf8bdb5	686e0817-587f-49c3-b654-8141a09dd79b	g.chr1:27226496A>T	ENST00000361720.5	-	1	461	c.438T>A	c.(436-438)ccT>ccA	p.P146P		NM_022078.2	NP_071361.2	Q96I76	GPTC3_HUMAN	G patch domain containing 3	146							nucleic acid binding (GO:0003676)			endometrium(2)|large_intestine(1)|lung(11)|skin(1)	15		all_cancers(24;1.29e-21)|all_epithelial(13;2.35e-19)|Colorectal(325;0.000147)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Breast(348;0.00131)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;3.97e-51)|OV - Ovarian serous cystadenocarcinoma(117;9.55e-30)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|STAD - Stomach adenocarcinoma(196;0.000595)|KIRC - Kidney renal clear cell carcinoma(1967;0.00072)|READ - Rectum adenocarcinoma(331;0.0419)		ATGCCTCCGTAGGTAGCCGAA	0.567																																						ENST00000361720.5																			0				endometrium(2)|large_intestine(1)|lung(11)|skin(1)	15						c.(436-438)ccT>ccA		G patch domain containing 3							48	53	51					1																	27226496		2203	4300	6503	SO:0001819	synonymous_variant	63906					intracellular	nucleic acid binding	g.chr1:27226496A>T	BC007767	CCDS290.1	1p35.3-p35.1	2013-01-28		2006-12-13	ENSG00000198746	ENSG00000198746		"G patch domain containing"	25720	protein-coding gene	gene with protein product				GPATC3			Standard	NM_022078		Approved	FLJ12455	uc001bne.3	Q96I76	OTTHUMG00000004229	ENST00000361720.5:c.438T>A	1.37:g.27226496A>T							p.P146P	NM_022078.2	NP_071361.2	Q96I76	GPTC3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;3.97e-51)|OV - Ovarian serous cystadenocarcinoma(117;9.55e-30)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|STAD - Stomach adenocarcinoma(196;0.000595)|KIRC - Kidney renal clear cell carcinoma(1967;0.00072)|READ - Rectum adenocarcinoma(331;0.0419)	1	461	-		all_cancers(24;1.29e-21)|all_epithelial(13;2.35e-19)|Colorectal(325;0.000147)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Breast(348;0.00131)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)	146					Q5JYH2|Q8NDJ2|Q9H9Z3	Silent	SNP	ENST00000361720.5	37	c.438T>A	CCDS290.1																																																																																				0.567	GPATCH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012181.1	NM_022078		13	23	0	0	0	1	0	13	23					T	27226496	A	T	27226496	2	4	341	1	0	0	0	0	0	0	0	1	6592	407	15	5		5	GPATCH3	1	27226496	Silent	SNP	A	TCGA-KK-A8ID-01A-11D-A364-08	2809056	27226496	222024125	5	17234											
CCDC28B	79140	broad.mit.edu	37	chr1	32669948	32669948	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	aggagcagaagaagacaatgGctgaccgtaacctggaccag	15	4	13	9	1	0	4	0	1	0	3	0	6	0	6	3	3	2	3	3	3	4	1			TCGA-KK-A8ID-01A-11D-A364-08	TCGA-KK-A8ID-11A-12D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	434c8d21-e732-4485-a382-84e8abf8bdb5	686e0817-587f-49c3-b654-8141a09dd79b	g.chr1:32669948G>A	ENST00000373602.5	+	4	840	c.493G>A	c.(493-495)Gct>Act	p.A165T	CCDC28B_ENST00000483009.1_Intron|RP4-622L5.7_ENST00000421616.1_RNA|RP4-622L5.7_ENST00000373604.4_RNA|IQCC_ENST00000537469.1_5'Flank|CCDC28B_ENST00000421922.2_Missense_Mutation_p.A165T|IQCC_ENST00000291358.6_5'Flank	NM_024296.3	NP_077272.2	Q9BUN5	CC28B_HUMAN	coiled-coil domain containing 28B	165					cilium assembly (GO:0042384)	centrosome (GO:0005813)|cytoplasm (GO:0005737)				large_intestine(4)|lung(3)|ovary(1)|upper_aerodigestive_tract(2)	10		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)				GAAGACAATGGCTGACCGTAA	0.567																																						ENST00000421922.2																			0				large_intestine(4)|lung(3)|ovary(1)|upper_aerodigestive_tract(2)	10						c.(493-495)Gct>Act		coiled-coil domain containing 28B							127	121	123					1																	32669948		2203	4300	6503	SO:0001583	missense	79140							g.chr1:32669948G>A	BC022848	CCDS354.2, CCDS72749.1	1p36.11-p34.2	2008-02-05			ENSG00000160050	ENSG00000160050			28163	protein-coding gene	gene with protein product		610162				16327777	Standard	XM_006710892		Approved	MGC1203, RP4-622L5.5	uc001bul.1	Q9BUN5	OTTHUMG00000005738	ENST00000373602.5:c.493G>A	1.37:g.32669948G>A	ENSP00000362704:p.Ala165Thr					CCDC28B_ENST00000483009.1_Intron|CCDC28B_ENST00000373602.5_Missense_Mutation_p.A165T	p.A165T			Q9BUN5	CC28B_HUMAN			4	593	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)	165					A8K789|Q8TBV8	Missense_Mutation	SNP	ENST00000373602.5	37	c.493G>A	CCDS354.2	.	.	.	.	.	.	.	.	.	.	G	16.49	3.137939	0.56936	.	.	ENSG00000160050	ENST00000373602;ENST00000421922	T;T	0.49139	0.86;0.79	4.74	3.82	0.43975	.	0.114274	0.64402	D	0.000012	T	0.50718	0.1632	L	0.47716	1.5	0.47245	D	0.999368	D	0.53312	0.959	P	0.50590	0.645	T	0.56408	-0.7984	10	0.72032	D	0.01	-12.6082	13.5776	0.61883	0.0758:0.0:0.9242:0.0	.	165	Q9BUN5	CC28B_HUMAN	T	165	ENSP00000362704:A165T;ENSP00000413017:A165T	ENSP00000362704:A165T	A	+	1	0	CCDC28B	32442535	1.000000	0.71417	0.479000	0.27329	0.589000	0.36550	3.064000	0.49986	1.377000	0.46286	0.556000	0.70494	GCT		0.567	CCDC28B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000015723.4	NM_024296		10	46	0	0	0	1	0	10	46					A	32669948	G	A	32669948	3	1	341	1	0	0	0	0	1	0	0	0	2803	1203	42	3	503	3	CCDC28B	1	32669948	Missense_Mutation	SNP	G	TCGA-KK-A8ID-01A-11D-A364-08	5443452	32669948	216580673	6	17235											
GPBP1L1	60313	broad.mit.edu	37	chr1	46120919	46120919	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atcagaggaattatgtcgacGgcggcttactccaaatctac	12	10	9	10	3	2	1	1	0	1	1	4	3	3	2	1	3	2	1	1	3	5	3			TCGA-KK-A8ID-01A-11D-A364-08	TCGA-KK-A8ID-11A-12D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	434c8d21-e732-4485-a382-84e8abf8bdb5	686e0817-587f-49c3-b654-8141a09dd79b	g.chr1:46120919G>A	ENST00000290795.3	-	4	1354	c.133C>T	c.(133-135)Cgt>Tgt	p.R45C	GPBP1L1_ENST00000355105.3_Missense_Mutation_p.R45C			Q9HC44	GPBL1_HUMAN	GC-rich promoter binding protein 1-like 1	45					positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)		GPBP1L1/MAST2_ENST00000361297(2)	breast(1)|endometrium(2)|large_intestine(4)|lung(10)|ovary(1)|skin(2)|stomach(1)	21	Acute lymphoblastic leukemia(166;0.155)					TTATGTCGACGGCGGCTTACT	0.453																																						ENST00000355105.3																		GPBP1L1/MAST2_ENST00000361297(2)	0				breast(1)|endometrium(2)|large_intestine(4)|lung(10)|ovary(1)|skin(2)|stomach(1)	21						c.(133-135)Cgt>Tgt		GC-rich promoter binding protein 1-like 1							140	139	140					1																	46120919		2203	4300	6503	SO:0001583	missense	60313				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr1:46120919G>A		CCDS528.1	1p34.1	2008-02-05			ENSG00000159592	ENSG00000159592			28843	protein-coding gene	gene with protein product						12477932	Standard	NM_021639		Approved	SP192	uc001coq.3	Q9HC44	OTTHUMG00000040990	ENST00000290795.3:c.133C>T	1.37:g.46120919G>A	ENSP00000290795:p.Arg45Cys					GPBP1L1_ENST00000290795.3_Missense_Mutation_p.R45C	p.R45C	NM_021639.4	NP_067652.1	Q9HC44	GPBL1_HUMAN			5	1493	-	Acute lymphoblastic leukemia(166;0.155)		45					D3DQ10|Q9H751	Missense_Mutation	SNP	ENST00000290795.3	37	c.133C>T	CCDS528.1	.	.	.	.	.	.	.	.	.	.	G	26.0	4.696899	0.88830	.	.	ENSG00000159592	ENST00000290795;ENST00000355105	T;T	0.53857	0.6;0.6	6.04	5.13	0.70059	.	0.000000	0.85682	D	0.000000	T	0.61198	0.2328	M	0.69823	2.125	0.54753	D	0.999989	D	0.69078	0.997	P	0.53861	0.736	T	0.65788	-0.6083	10	0.87932	D	0	-15.9643	8.3409	0.32243	0.0763:0.0:0.6723:0.2514	.	45	Q9HC44	GPBL1_HUMAN	C	45	ENSP00000290795:R45C;ENSP00000347224:R45C	ENSP00000290795:R45C	R	-	1	0	GPBP1L1	45893506	1.000000	0.71417	0.865000	0.33974	0.981000	0.71138	5.379000	0.66196	1.571000	0.49722	0.563000	0.77884	CGT		0.453	GPBP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098375.1	NM_021639		61	71	0	0	0	1	0	61	71					A	46120919	G	A	46120919	3	1	341	1	0	0	0	0	1	0	0	0	6596	1116	39	2	1327	2	GPBP1L1	1	46120919	Missense_Mutation	SNP	G	TCGA-KK-A8ID-01A-11D-A364-08	13450971	46120919	203129702	7	17236											
CCDC76	54482	broad.mit.edu	37	chr1	100598732	100598732	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gagccctagaattatggcgaCctccgcgacgtcgccgcacg	8	6	12	15	7	0	1	0	0	0	1	2	4	1	1	4	1	1	1	4	1	3	2			TCGA-KK-A8ID-01A-11D-A364-08	TCGA-KK-A8ID-11A-12D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	434c8d21-e732-4485-a382-84e8abf8bdb5	686e0817-587f-49c3-b654-8141a09dd79b	g.chr1:100598732C>A	ENST00000370141.2	+	1	14	c.8C>A	c.(7-9)aCc>aAc	p.T3N	TRMT13_ENST00000370139.1_5'Flank|TRMT13_ENST00000370143.1_Missense_Mutation_p.T3N|SASS6_ENST00000462159.1_5'Flank|SASS6_ENST00000287482.5_5'Flank|SASS6_ENST00000535161.1_5'Flank	NM_019083.2	NP_061956.2	Q9NUP7	TRM13_HUMAN	tRNA methyltransferase 13 homolog (S. cerevisiae)	3					tRNA processing (GO:0008033)		metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)										ATTATGGCGACCTCCGCGACG	0.552																																						ENST00000370141.2																			0											c.(7-9)aCc>aAc		tRNA methyltransferase 13 homolog (S. cerevisiae)							45	49	48					1																	100598732		2203	4300	6503	SO:0001583	missense	54482							g.chr1:100598732C>A	BC075811	CCDS765.1	1p21.2	2012-06-07	2012-06-07	2012-06-07	ENSG00000122435	ENSG00000122435			25502	protein-coding gene	gene with protein product			"coiled-coil domain containing 76"	CCDC76		11799066	Standard	NM_019083		Approved	FLJ10287, FLJ11219	uc001dsv.3	Q9NUP7	OTTHUMG00000010841	ENST00000370141.2:c.8C>A	1.37:g.100598732C>A	ENSP00000359160:p.Thr3Asn					TRMT13_ENST00000370143.1_Missense_Mutation_p.T3N	p.T3N	NM_019083.2	NP_061956.2					1	14	+								Q5VVL0|Q9NW65	Missense_Mutation	SNP	ENST00000370141.2	37	c.8C>A	CCDS765.1	.	.	.	.	.	.	.	.	.	.	C	13.26	2.185213	0.38609	.	.	ENSG00000122435	ENST00000370143;ENST00000370141	T;T	0.44482	0.92;0.95	4.93	4.01	0.46588	.	0.432303	0.25119	N	0.032990	T	0.15609	0.0376	N	0.22421	0.69	0.47441	D	0.999428	B;B	0.12013	0.002;0.005	B;B	0.16289	0.003;0.015	T	0.05084	-1.0907	10	0.49607	T	0.09	-1.63	11.9621	0.53015	0.1739:0.8261:0.0:0.0	.	3;3	B4DQS9;Q9NUP7	.;TRM13_HUMAN	N	3	ENSP00000359162:T3N;ENSP00000359160:T3N	ENSP00000359160:T3N	T	+	2	0	CCDC76	100371320	0.001000	0.12720	0.437000	0.26809	0.031000	0.12232	-0.001000	0.12947	1.278000	0.44430	0.650000	0.86243	ACC		0.552	TRMT13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029919.1	NM_019083		3	38	1	0	0.00024832	1	0.00025775	3	38					A	100598732	C	A	100598732	3	1	341	1	0	0	0	0	1	0	0	0	2850	507	18	5	10	5	CCDC76	1	100598732	Missense_Mutation	SNP	C	TCGA-KK-A8ID-01A-11D-A364-08	54477813	100598732	148651889	8	17237											
KIAA0907	22889	broad.mit.edu	37	chr1	155887434	155887434	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaggcagttttgacaggagcAgcaggaataaaaggaccacc	16	5	12	8	0	0	1	0	1	0	0	0	4	0	4	2	4	2	4	2	4	4	3			TCGA-KK-A8ID-01A-11D-A364-08	TCGA-KK-A8ID-11A-12D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	434c8d21-e732-4485-a382-84e8abf8bdb5	686e0817-587f-49c3-b654-8141a09dd79b	g.chr1:155887434A>T	ENST00000368321.3	-	11	1319	c.1296T>A	c.(1294-1296)gcT>gcA	p.A432A	SNORA42_ENST00000384744.1_RNA|KIAA0907_ENST00000368320.3_Silent_p.A432A	NM_014949.2	NP_055764.2	Q7Z7F0	K0907_HUMAN	KIAA0907	432	Pro-rich.						RNA binding (GO:0003723)			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|urinary_tract(1)	21	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;8.82e-06)			TGACAGGAGCAGCAGGAATAA	0.532																																						ENST00000368320.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|urinary_tract(1)	21						c.(1294-1296)gcT>gcA		KIAA0907							18	21	20					1																	155887434		2159	4156	6315	SO:0001819	synonymous_variant	22889							g.chr1:155887434A>T	BC062637	CCDS30885.1	1q22	2012-11-30			ENSG00000132680	ENSG00000132680			29145	protein-coding gene	gene with protein product						10048485	Standard	NM_014949		Approved	BLOM7	uc001fmi.1	Q7Z7F0	OTTHUMG00000014103	ENST00000368321.3:c.1296T>A	1.37:g.155887434A>T						KIAA0907_ENST00000368321.3_Silent_p.A432A	p.A432A			Q7Z7F0	K0907_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;8.82e-06)		11	1321	-	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		432			Pro-rich.		O94981|Q7L7Q2|Q7Z7E9|Q8TBQ0	Silent	SNP	ENST00000368321.3	37	c.1296T>A	CCDS30885.1																																																																																				0.532	KIAA0907-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039583.1	NM_014949		15	10	0	0	0	1	0	15	10					T	155887434	A	T	155887434	2	4	341	1	0	0	0	0	0	0	0	1	8199	175	7	5		5	KIAA0907	1	155887434	Silent	SNP	A	TCGA-KK-A8ID-01A-11D-A364-08	55288702	155887434	93363187	9	17238											
TLR5	7100	broad.mit.edu	37	chr1	223285928	223285928	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gatttttggatagatccaagCgagttaaagcctttaaattt	13	15	8	5	1	0	1	0	0	0	1	1	4	1	2	2	1	2	1	2	1	6	7	rs372708351		TCGA-KK-A8ID-01A-11D-A364-08	TCGA-KK-A8ID-11A-12D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	434c8d21-e732-4485-a382-84e8abf8bdb5	686e0817-587f-49c3-b654-8141a09dd79b	g.chr1:223285928C>T	ENST00000540964.1	-	4	907	c.446G>A	c.(445-447)cGc>cAc	p.R149H	TLR5_ENST00000342210.6_Missense_Mutation_p.R149H			O60602	TLR5_HUMAN	toll-like receptor 5	149					cellular response to lipopolysaccharide (GO:0071222)|cellular response to mechanical stimulus (GO:0071260)|defense response to bacterium (GO:0042742)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|male gonad development (GO:0008584)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of toll-like receptor signaling pathway (GO:0034123)|regulation of cytokine secretion (GO:0050707)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor signaling pathway (GO:0002224)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	interleukin-1 receptor binding (GO:0005149)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32				GBM - Glioblastoma multiforme(131;0.0851)		TAGATCCAAGCGAGTTAAAGC	0.368													C|||	1	0.000199681	8e-04	0	5008	,	,		20349	0		0	False		,,,				2504	0					ENST00000540964.1																			0				breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32						c.(445-447)cGc>cAc		toll-like receptor 5		C	HIS/ARG	0,4406		0,0,2203	73	73	73		446	0.8	1	1		73	1,8599	1.2+/-3.3	0,1,4299	no	missense	TLR5	NM_003268.5	29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	149/859	223285928	1,13005	2203	4300	6503	SO:0001583	missense	7100				cellular response to mechanical stimulus|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of interleukin-8 production|positive regulation of toll-like receptor signaling pathway	integral to membrane|plasma membrane	interleukin-1 receptor binding|transmembrane receptor activity	g.chr1:223285928C>T		CCDS31033.1	1q32.3-q42	2014-01-29			ENSG00000187554	ENSG00000187554			11851	protein-coding gene	gene with protein product	"Toll/interleukin-1 receptor-like protein 3"	603031	"systemic lupus erythematosus susceptibility 1"	SLEB1		9435236, 16027372	Standard	NM_003268		Approved	TIL3, FLJ10052, MGC126430, MGC126431	uc001hnw.2	O60602	OTTHUMG00000037937	ENST00000540964.1:c.446G>A	1.37:g.223285928C>T	ENSP00000440643:p.Arg149His					TLR5_ENST00000342210.6_Missense_Mutation_p.R149H	p.R149H			O60602	TLR5_HUMAN		GBM - Glioblastoma multiforme(131;0.0851)	4	907	-			149					B1AZ05|B3Y633|B9VJ63|D1CS80|D3DTB8|O15456|Q32MI2|Q32MI3	Missense_Mutation	SNP	ENST00000540964.1	37	c.446G>A	CCDS31033.1	.	.	.	.	.	.	.	.	.	.	C	9.660	1.143808	0.21205	0.0	1.16E-4	ENSG00000187554	ENST00000540964;ENST00000366881;ENST00000342210	T;T;T	0.56776	0.44;0.44;0.44	5.03	0.795	0.18643	.	1.095890	0.06776	N	0.784336	T	0.38108	0.1028	L	0.35249	1.045	0.09310	N	1	B	0.09022	0.002	B	0.10450	0.005	T	0.24154	-1.0168	10	0.27785	T	0.31	.	4.4921	0.11819	0.1493:0.3984:0.0:0.4523	.	149	O60602	TLR5_HUMAN	H	149	ENSP00000440643:R149H;ENSP00000355846:R149H;ENSP00000340089:R149H	ENSP00000340089:R149H	R	-	2	0	TLR5	221352551	0.000000	0.05858	0.958000	0.39756	0.926000	0.56050	-0.350000	0.07721	0.253000	0.21552	0.655000	0.94253	CGC		0.368	TLR5-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_003268		25	53	0	0	0	1	0	25	53					T	223285928	C	T	223285928	3	4	341	1	0	0	0	0	1	0	0	0	15951	768	27	1	2134	1	TLR5	1	223285928	Missense_Mutation	SNP	C	TCGA-KK-A8ID-01A-11D-A364-08	67398494	223285928	25964693	10	17239											
FMN2	56776	broad.mit.edu	37	chr1	240256589	240256591	+	In_Frame_Del	DEL	GCC	GCC	-																															aaggacctgacgcccccgcgGccgcttccctgcccggcagc																								rs372473032		TCGA-KK-A8ID-01A-11D-A364-08	TCGA-KK-A8ID-11A-12D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	434c8d21-e732-4485-a382-84e8abf8bdb5	686e0817-587f-49c3-b654-8141a09dd79b	g.chr1:240256589_240256591delGCC	ENST00000319653.9	+	1	1410_1412	c.1180_1182delGCC	c.(1180-1182)gccdel	p.A395del		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	395					cellular response to DNA damage stimulus (GO:0006974)|cellular response to hypoxia (GO:0071456)|establishment of meiotic spindle localization (GO:0051295)|formin-nucleated actin cable assembly (GO:0070649)|homologous chromosome movement towards spindle pole involved in homologous chromosome segregation (GO:0051758)|intracellular signal transduction (GO:0035556)|intracellular transport (GO:0046907)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein catabolic process (GO:0042177)|oogenesis (GO:0048477)|polar body extrusion after meiotic divisions (GO:0040038)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cell cortex (GO:0005938)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|microvillus (GO:0005902)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|spindle (GO:0005819)	actin binding (GO:0003779)			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			CGCCCCCGCGGCCGCTTCCCTGC	0.719																																						ENST00000319653.9																			0				NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178						c.(1180-1182)del		formin 2																																				SO:0001651	inframe_deletion	56776				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding	g.chr1:240256589_240256591delGCC	AF218942	CCDS31069.2	1q43	2008-02-05			ENSG00000155816	ENSG00000155816			14074	protein-coding gene	gene with protein product		606373				10781961	Standard	NM_020066		Approved		uc010pyd.2	Q9NZ56	OTTHUMG00000039883	ENST00000319653.9:c.1180_1182delGCC	1.37:g.240256589_240256591delGCC	ENSP00000318884:p.Ala395del						p.A395del	NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0106)		1	1410_1412	+	Ovarian(103;0.127)	all_cancers(173;0.013)	395					B0QZA7|B4DP05|Q59GF6|Q5VU37|Q9NZ55	In_Frame_Del	DEL	ENST00000319653.9	37	c.1180_1182delGCC	CCDS31069.2																																																																																				0.719	FMN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096217.2	XM_371352		16	21						16	21	---	---	---	---	-	240256591	GCC	-	240256589	7	5	341	1	0	1	0	1	0	0	0	0	5950	1203	42	0	1182	0	FMN2	1	240256589	In_Frame_Del	DEL	GCC	TCGA-KK-A8ID-01A-11D-A364-08	16970661	240256589	8994032	11	17240											
ITGB6	3694	broad.mit.edu	37	chr2	160964242	160964242	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caaatttggcaacttctttaCgatcatgaaatgacaccagt	14	12	6	9	1	2	2	1	2	1	0	2	3	2	2	1	1	2	1	1	1	4	4			TCGA-KK-A8ID-01A-11D-A364-08	TCGA-KK-A8ID-11A-12D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	434c8d21-e732-4485-a382-84e8abf8bdb5	686e0817-587f-49c3-b654-8141a09dd79b	g.chr2:160964242C>T	ENST00000283249.2	-	14	2453	c.2216G>A	c.(2215-2217)cGt>cAt	p.R739H	ITGB6_ENST00000409967.2_Missense_Mutation_p.R632H|ITGB6_ENST00000428609.2_Missense_Mutation_p.R697H|ITGB6_ENST00000409872.1_Missense_Mutation_p.R739H	NM_001282353.1|NM_001282354.1|NM_001282388.1	NP_001269282.1|NP_001269283.1|NP_001269317.1	P18564	ITB6_HUMAN	integrin, beta 6	739	Interaction with HAX1.				cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)|inflammatory response (GO:0006954)|integrin-mediated signaling pathway (GO:0007229)|multicellular organismal development (GO:0007275)|viral process (GO:0016032)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	virus receptor activity (GO:0001618)			breast(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	23						AACTTCTTTACGATCATGAAA	0.463																																						ENST00000283249.2																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	23						c.(2215-2217)cGt>cAt		integrin, beta 6							154	146	149					2																	160964242		2203	4300	6503	SO:0001583	missense	3694				cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|multicellular organismal development	integrin complex	receptor activity	g.chr2:160964242C>T		CCDS2212.1, CCDS63040.1, CCDS74596.1, CCDS74597.1	2q24.2	2010-03-23			ENSG00000115221	ENSG00000115221		"Integrins"	6161	protein-coding gene	gene with protein product		147558				1729173, 8120056	Standard	NM_001282353		Approved		uc002ubh.2	P18564	OTTHUMG00000132026	ENST00000283249.2:c.2216G>A	2.37:g.160964242C>T	ENSP00000283249:p.Arg739His					ITGB6_ENST00000428609.2_Missense_Mutation_p.R697H|ITGB6_ENST00000409872.1_Missense_Mutation_p.R739H|ITGB6_ENST00000409967.2_Missense_Mutation_p.R632H	p.R739H			P18564	ITB6_HUMAN			14	2453	-			739			Interaction with HAX1.		B2R9W5|C9JA97|Q0VA95|Q16500|Q53RG5|Q53RR6	Missense_Mutation	SNP	ENST00000283249.2	37	c.2216G>A	CCDS2212.1	.	.	.	.	.	.	.	.	.	.	C	28.3	4.907054	0.92107	.	.	ENSG00000115221	ENST00000283249;ENST00000428609;ENST00000409967;ENST00000409872	D;D;D;D	0.91124	-2.79;-2.79;-2.79;-2.79	5.79	5.79	0.91817	Integrin beta subunit, cytoplasmic (2);	0.058628	0.64402	D	0.000003	D	0.96272	0.8784	M	0.88775	2.98	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.74023	0.971;0.982	D	0.96383	0.9283	10	0.87932	D	0	.	20.0411	0.97590	0.0:1.0:0.0:0.0	.	697;739	E9PEE8;P18564	.;ITB6_HUMAN	H	739;697;632;739	ENSP00000283249:R739H;ENSP00000408024:R697H;ENSP00000386828:R632H;ENSP00000386367:R739H	ENSP00000283249:R739H	R	-	2	0	ITGB6	160672488	0.998000	0.40836	1.000000	0.80357	0.997000	0.91878	3.751000	0.55165	2.739000	0.93911	0.655000	0.94253	CGT		0.463	ITGB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255036.1	NM_000888		7	81	0	0	0	1	0	7	81					T	160964242	C	T	160964242	3	4	341	1	0	0	0	0	1	0	0	0	7899	536	19	1	158	1	ITGB6	2	160964242	Missense_Mutation	SNP	C	TCGA-KK-A8ID-01A-11D-A364-08		160964242	82235131	12	17241											
TTN	7273	broad.mit.edu	37	chr2	179455521	179455521	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccatttgccagttacttctcGacgttccatatagtagccag	9	13	7	12	2	1	0	0	0	1	0	3	1	2	0	4	0	3	3	4	0	4	7			TCGA-KK-A8ID-01A-11D-A364-08	TCGA-KK-A8ID-11A-12D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	434c8d21-e732-4485-a382-84e8abf8bdb5	686e0817-587f-49c3-b654-8141a09dd79b	g.chr2:179455521G>A	ENST00000591111.1	-	254	56232	c.56008C>T	c.(56008-56010)Cga>Tga	p.R18670*	TTN_ENST00000359218.5_Nonsense_Mutation_p.R11371*|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Nonsense_Mutation_p.R11246*|TTN_ENST00000342992.6_Nonsense_Mutation_p.R17743*|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Nonsense_Mutation_p.R11438*|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590743.1_RNA|TTN_ENST00000589042.1_Nonsense_Mutation_p.R20311*|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000589907.1_RNA			Q8WZ42	TITIN_HUMAN	titin	18670	Fibronectin type-III 35. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GTTACTTCTCGACGTTCCATA	0.443																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(60931-60933)Cga>Tga		titin							106	101	103					2																	179455521		1907	4112	6019	SO:0001587	stop_gained	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179455521G>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.56008C>T	2.37:g.179455521G>A	ENSP00000465570:p.Arg18670*					TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Nonsense_Mutation_p.R18670*|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342175.6_Nonsense_Mutation_p.R11438*|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000359218.5_Nonsense_Mutation_p.R11371*|TTN-AS1_ENST00000590743.1_RNA|TTN_ENST00000460472.2_Nonsense_Mutation_p.R11246*|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000342992.6_Nonsense_Mutation_p.R17743*	p.R20311*	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		304	61155	-			18670			Ig-like 111.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Nonsense_Mutation	SNP	ENST00000591111.1	37	c.60931C>T		.	.	.	.	.	.	.	.	.	.	G	61	53.111839	0.99988	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	.	.	.	6.11	5.23	0.72850	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	14.6593	0.68858	0.0:0.0:0.7365:0.2635	.	.	.	.	X	17743;11246;11438;11371;11244	.	ENSP00000340554:R11438X	R	-	1	2	TTN	179163767	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.404000	0.52623	1.570000	0.49709	0.655000	0.94253	CGA		0.443	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		68	56	0	0	0	1	0	68	56					A	179455521	G	A	179455521	4	1	341	1	0	0	0	0	0	1	0	0	16732	1066	37	2	47284	2	TTN	2	179455521	Nonsense_Mutation	SNP	G	TCGA-KK-A8ID-01A-11D-A364-08	18491279	179455521	63743852	13	17242											
CPS1	1373	broad.mit.edu	37	chr2	211504743	211504743	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	catgatgtcaattttgatgaCcatggaatgatggtgctagg	11	13	12	5	0	1	4	1	4	0	0	1	5	1	5	1	3	1	1	1	3	3	3			TCGA-KK-A8ID-01A-11D-A364-08	TCGA-KK-A8ID-11A-12D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	434c8d21-e732-4485-a382-84e8abf8bdb5	686e0817-587f-49c3-b654-8141a09dd79b	g.chr2:211504743C>G	ENST00000233072.5	+	24	3115	c.2919C>G	c.(2917-2919)gaC>gaG	p.D973E	CPS1_ENST00000451903.2_Missense_Mutation_p.D522E|CPS1_ENST00000430249.2_Missense_Mutation_p.D979E|CPS1_ENST00000497121.1_3'UTR	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN	carbamoyl-phosphate synthase 1, mitochondrial	973					anion homeostasis (GO:0055081)|carbamoyl phosphate biosynthetic process (GO:0070409)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to cAMP (GO:0071320)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to glucagon stimulus (GO:0071377)|cellular response to oleic acid (GO:0071400)|citrulline biosynthetic process (GO:0019240)|glutamine catabolic process (GO:0006543)|glycogen catabolic process (GO:0005980)|hepatocyte differentiation (GO:0070365)|homocysteine metabolic process (GO:0050667)|midgut development (GO:0007494)|nitric oxide metabolic process (GO:0046209)|positive regulation of vasodilation (GO:0045909)|response to amine (GO:0014075)|response to amino acid (GO:0043200)|response to dexamethasone (GO:0071548)|response to drug (GO:0042493)|response to food (GO:0032094)|response to growth hormone (GO:0060416)|response to lipopolysaccharide (GO:0032496)|response to starvation (GO:0042594)|response to toxic substance (GO:0009636)|response to zinc ion (GO:0010043)|small molecule metabolic process (GO:0044281)|triglyceride catabolic process (GO:0019433)|urea cycle (GO:0000050)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|carbamoyl-phosphate synthase (ammonia) activity (GO:0004087)|endopeptidase activity (GO:0004175)|glutamate binding (GO:0016595)|modified amino acid binding (GO:0072341)|phospholipid binding (GO:0005543)			breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)	Carglumic Acid(DB06775)	ATTTTGATGACCATGGAATGA	0.308																																						ENST00000233072.5																			0				breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142						c.(2917-2919)gaC>gaG		carbamoyl-phosphate synthase 1, mitochondrial							144	139	141					2																	211504743		2203	4298	6501	SO:0001583	missense	1373				carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity	g.chr2:211504743C>G	AF154830	CCDS2393.1, CCDS46505.1, CCDS46506.1	2p	2014-09-17	2010-05-11		ENSG00000021826	ENSG00000021826	6.3.4.16		2323	protein-coding gene	gene with protein product		608307	"carbamoyl-phosphate synthetase 1, mitochondrial"				Standard	NM_001122633		Approved		uc002vee.4	P31327	OTTHUMG00000132994	ENST00000233072.5:c.2919C>G	2.37:g.211504743C>G	ENSP00000233072:p.Asp973Glu					CPS1_ENST00000497121.1_3'UTR|CPS1_ENST00000451903.2_Missense_Mutation_p.D522E|CPS1_ENST00000430249.2_Missense_Mutation_p.D979E	p.D973E	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN		Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)	24	3115	+			973					B7Z818|J3KQL0|O43774|Q53TL5|Q59HF8|Q7Z5I5	Missense_Mutation	SNP	ENST00000233072.5	37	c.2919C>G	CCDS2393.1	.	.	.	.	.	.	.	.	.	.	C	11.95	1.792718	0.31685	.	.	ENSG00000021826	ENST00000430249;ENST00000539150;ENST00000233072;ENST00000451903	D;D;D	0.97256	-4.31;-4.31;-4.31	5.42	-10.8	0.00216	Pre-ATP-grasp fold (1);PreATP-grasp-like fold (1);	0.087489	0.85682	N	0.000000	D	0.84866	0.5567	N	0.05414	-0.055	0.28674	N	0.905475	B;B	0.11235	0.004;0.001	B;B	0.12837	0.008;0.008	T	0.76650	-0.2881	10	0.22706	T	0.39	-3.2282	2.0095	0.03485	0.3198:0.2091:0.0753:0.3958	.	983;973	Q59HF8;P31327	.;CPSM_HUMAN	E	979;981;973;522	ENSP00000402608:D979E;ENSP00000233072:D973E;ENSP00000406136:D522E	ENSP00000233072:D973E	D	+	3	2	CPS1	211212988	0.639000	0.27234	0.201000	0.23476	0.993000	0.82548	-0.136000	0.10405	-2.720000	0.00389	-0.136000	0.14681	GAC		0.308	CPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256569.5			37	62	0	0	0	1	0	37	62					G	211504743	C	G	211504743	3	3	341	1	0	0	0	0	1	0	0	0	3823	506	18	5	3035	5	CPS1	2	211504743	Missense_Mutation	SNP	C	TCGA-KK-A8ID-01A-11D-A364-08	32049222	211504743	31694630	14	17243											
PAX3	5077	broad.mit.edu	37	chr2	223085952	223085952	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcggtaccttgtggaataGatgtgggctggtaagaggtc	8	11	15	7	1	0	2	0	0	0	2	2	3	0	3	2	5	1	3	2	5	4	4			TCGA-KK-A8ID-01A-11D-A364-08	TCGA-KK-A8ID-11A-12D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	434c8d21-e732-4485-a382-84e8abf8bdb5	686e0817-587f-49c3-b654-8141a09dd79b	g.chr2:223085952G>T	ENST00000350526.4	-	6	1083	c.947C>A	c.(946-948)tCt>tAt	p.S316Y	PAX3_ENST00000392069.2_Missense_Mutation_p.S316Y|PAX3_ENST00000392070.2_Missense_Mutation_p.S316Y|PAX3_ENST00000409551.3_Missense_Mutation_p.S315Y|PAX3_ENST00000464706.1_5'UTR|PAX3_ENST00000336840.6_Missense_Mutation_p.S316Y|PAX3_ENST00000344493.4_Missense_Mutation_p.S316Y	NM_181457.3	NP_852122.1	P23760	PAX3_HUMAN	paired box 3	316					apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|developmental pigmentation (GO:0048066)|heart development (GO:0007507)|mammary gland specification (GO:0060594)|muscle organ development (GO:0007517)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural crest cell migration (GO:0001755)|neural tube closure (GO:0001843)|neuron fate commitment (GO:0048663)|organ morphogenesis (GO:0009887)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of somitogenesis (GO:0014807)|sensory perception of sound (GO:0007605)|spinal cord association neuron differentiation (GO:0021527)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)		PAX3/NCOA2(4)|PAX3/NCOA1(8)|PAX3/FOXO1(749)	NS(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(13)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	38		Renal(207;0.0183)		Epithelial(121;4.13e-10)|all cancers(144;1.85e-07)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TTGTGGAATAGATGTGGGCTG	0.502			T	"FOXO1A, NCOA1"	alveolar rhabdomyosarcoma		Waardenburg syndrome; craniofacial-deafness-hand syndrome																															ENST00000350526.4				Dom	yes		2	2q35	5077	T	paired box gene 3	yes	Waardenburg syndrome; craniofacial-deafness-hand syndrome	M	"FOXO1A, NCOA1"		alveolar rhabdomyosarcoma	PAX3/NCOA2(4)|PAX3/NCOA1(8)|PAX3/FOXO1(749)	0				NS(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(13)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	38						c.(946-948)tCt>tAt		paired box 3							217	228	224					2																	223085952		2203	4300	6503	SO:0001583	missense	5077				apoptosis|organ morphogenesis|positive regulation of transcription from RNA polymerase II promoter|sensory perception of sound|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:223085952G>T		CCDS2449.1, CCDS2450.1, CCDS2451.1, CCDS42825.1, CCDS2448.1, CCDS42826.1, CCDS46522.1, CCDS46523.1	2q36.1	2011-06-20	2007-07-12		ENSG00000135903	ENSG00000135903		"Paired boxes", "Homeoboxes / PRD class"	8617	protein-coding gene	gene with protein product		606597	"Waardenburg syndrome 1", "paired box gene 3 (Waardenburg syndrome 1)"	WS1		1347149	Standard	NM_181461		Approved	HUP2	uc002vmt.2	P23760	OTTHUMG00000133157	ENST00000350526.4:c.947C>A	2.37:g.223085952G>T	ENSP00000343052:p.Ser316Tyr					PAX3_ENST00000464706.1_5'UTR|PAX3_ENST00000344493.4_Missense_Mutation_p.S316Y|PAX3_ENST00000409551.3_Missense_Mutation_p.S315Y|PAX3_ENST00000392070.2_Missense_Mutation_p.S316Y|PAX3_ENST00000392069.2_Missense_Mutation_p.S316Y|PAX3_ENST00000336840.6_Missense_Mutation_p.S316Y	p.S316Y	NM_181457.3	NP_852122.1	P23760	PAX3_HUMAN		Epithelial(121;4.13e-10)|all cancers(144;1.85e-07)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	6	1083	-		Renal(207;0.0183)	316					G5E9C1|Q16448|Q494Z3|Q494Z4|Q53T90|Q6GSJ9|Q86UQ2|Q86UQ3	Missense_Mutation	SNP	ENST00000350526.4	37	c.947C>A	CCDS42826.1	.	.	.	.	.	.	.	.	.	.	G	19.73	3.882620	0.72410	.	.	ENSG00000135903	ENST00000392069;ENST00000344493;ENST00000350526;ENST00000392070;ENST00000336840;ENST00000409551;ENST00000464706;ENST00000555548	D;D;D;D;D;D	0.94828	-3.53;-3.51;-3.53;-3.51;-3.51;-3.52	6.06	6.06	0.98353	.	0.102446	0.64402	D	0.000001	D	0.93471	0.7917	L	0.50333	1.59	0.80722	D	1	B;P;P;P;P	0.45078	0.027;0.638;0.631;0.549;0.85	B;B;B;B;B	0.41619	0.03;0.178;0.165;0.361;0.246	D	0.93599	0.6928	10	0.72032	D	0.01	.	20.6208	0.99490	0.0:0.0:1.0:0.0	.	316;315;316;316;316	P23760;Q494Z4;P23760-4;P23760-5;G5E9C1	PAX3_HUMAN;.;.;.;.	Y	316;316;316;316;316;315;33;33	ENSP00000375921:S316Y;ENSP00000342092:S316Y;ENSP00000343052:S316Y;ENSP00000375922:S316Y;ENSP00000338767:S316Y;ENSP00000386750:S315Y	ENSP00000338767:S316Y	S	-	2	0	PAX3	222794196	1.000000	0.71417	0.834000	0.33040	0.972000	0.66771	9.414000	0.97362	2.882000	0.98803	0.655000	0.94253	TCT		0.502	PAX3-006	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000328670.1			74	179	1	0	2.80266e-47	1	3.37967e-47	74	179					T	223085952	G	T	223085952	3	4	341	1	0	0	0	0	1	0	0	0	11480	942	33	5	618	5	PAX3	2	223085952	Missense_Mutation	SNP	G	TCGA-KK-A8ID-01A-11D-A364-08	11581209	223085952	20113421	15	17244											
HTR2B	3357	broad.mit.edu	37	chr2	231973478	231973478	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tttttactgactttgtggccCggtaattgcaggtgatatat	8	17	10	6	1	0	2	0	2	0	0	0	2	0	2	1	3	2	2	1	3	4	8	rs146731940	byFrequency	TCGA-KK-A8ID-01A-11D-A364-08	TCGA-KK-A8ID-11A-12D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	434c8d21-e732-4485-a382-84e8abf8bdb5	686e0817-587f-49c3-b654-8141a09dd79b	g.chr2:231973478C>T	ENST00000258400.3	-	4	1711	c.1199G>A	c.(1198-1200)cGg>cAg	p.R400Q	PSMD1_ENST00000373635.4_Intron|PSMD1_ENST00000488354.1_3'UTR|PSMD1_ENST00000308696.6_Intron|PSMD1_ENST00000409643.1_Intron	NM_000867.4	NP_000858.3	P41595	5HT2B_HUMAN	5-hydroxytryptamine (serotonin) receptor 2B, G protein-coupled	400					activation of phospholipase C activity (GO:0007202)|behavior (GO:0007610)|calcium-mediated signaling (GO:0019722)|cardiac muscle hypertrophy (GO:0003300)|cellular calcium ion homeostasis (GO:0006874)|cellular response to temperature stimulus (GO:0071502)|cGMP biosynthetic process (GO:0006182)|embryonic morphogenesis (GO:0048598)|ERK1 and ERK2 cascade (GO:0070371)|G-protein coupled receptor internalization (GO:0002031)|G-protein coupled receptor signaling pathway (GO:0007186)|heart morphogenesis (GO:0003007)|intestine smooth muscle contraction (GO:0014827)|negative regulation of apoptotic process (GO:0043066)|negative regulation of autophagy (GO:0010507)|negative regulation of cell death (GO:0060548)|neural crest cell differentiation (GO:0014033)|neural crest cell migration (GO:0001755)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphorylation (GO:0016310)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokine production (GO:0001819)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of phosphatidylinositol biosynthetic process (GO:0010513)|protein kinase C signaling (GO:0070528)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of behavior (GO:0050795)|release of sequestered calcium ion into cytosol (GO:0051209)|response to drug (GO:0042493)|serotonin receptor signaling pathway (GO:0007210)|vasoconstriction (GO:0042310)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)	drug binding (GO:0008144)|G-protein alpha-subunit binding (GO:0001965)|Ras GTPase activator activity (GO:0005099)|serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|urinary_tract(1)	11		Renal(207;0.025)|all_hematologic(139;0.094)|Acute lymphoblastic leukemia(138;0.164)|Medulloblastoma(418;0.232)		Epithelial(121;4.48e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0141)	Amoxapine(DB00543)|Apomorphine(DB00714)|Asenapine(DB06216)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Clomipramine(DB01242)|Dihydroergotamine(DB00320)|Doxepin(DB01142)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Ketamine(DB01221)|Lisuride(DB00589)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Pergolide(DB01186)|Pramipexole(DB00413)|Ropinirole(DB00268)|Triflupromazine(DB00508)|Yohimbine(DB01392)	CTTTGTGGCCCGGTAATTGCA	0.423																																					Ovarian(155;1331 1891 12853 14038 34991)	ENST00000258400.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|urinary_tract(1)	11						c.(1198-1200)cGg>cAg		5-hydroxytryptamine (serotonin) receptor 2B, G protein-coupled	Chlorprothixene(DB01239)|Eletriptan(DB00216)|Fenfluramine(DB00574)|Methotrimeprazine(DB01403)|Minaprine(DB00805)|Quetiapine(DB01224)|Sumatriptan(DB00669)|Tegaserod(DB01079)|Triflupromazine(DB00508)	C	GLN/ARG,,	0,4406		0,0,2203	136	135	135		1199,,	-4	0.7	2	dbSNP_134	135	4,8596	3.7+/-12.6	0,4,4296	yes	missense,intron,intron	HTR2B,PSMD1	NM_000867.4,NM_001191037.1,NM_002807.3	43,,	0,4,6499	TT,TC,CC		0.0465,0.0,0.0308	benign,,	400/482,,	231973478	4,13002	2203	4300	6503	SO:0001583	missense	3357				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cardiac muscle hypertrophy|cellular response to calcium ion|cellular response to temperature stimulus|cGMP biosynthetic process|embryonic morphogenesis|ERK1 and ERK2 cascade|G-protein coupled receptor internalization|heart morphogenesis|intestine smooth muscle contraction|negative regulation of apoptosis|negative regulation of autophagy|neural crest cell migration|phosphatidylinositol 3-kinase cascade|phosphatidylinositol biosynthetic process|phosphorylation|positive regulation of cell division|positive regulation of cytokine production|positive regulation of cytokine secretion|positive regulation of endothelial cell proliferation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAP kinase activity|positive regulation of nitric-oxide synthase activity|protein kinase C signaling cascade|regulation of behavior|release of sequestered calcium ion into cytosol|response to drug|vasoconstriction	cytoplasm|integral to membrane|plasma membrane	calcium channel activity|drug binding|G-protein alpha-subunit binding|phosphatidylinositol phospholipase C activity|Ras GTPase activator activity|serotonin binding|serotonin receptor activity	g.chr2:231973478C>T		CCDS2483.1	2q36.3-q37.1	2012-08-08	2012-02-03		ENSG00000135914	ENSG00000135914		"5-HT (serotonin) receptors", "GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"	5294	protein-coding gene	gene with protein product		601122	"5-hydroxytryptamine (serotonin) receptor 2B"			8143856	Standard	NM_000867		Approved	5-HT(2B), 5-HT2B	uc002vro.3	P41595	OTTHUMG00000133222	ENST00000258400.3:c.1199G>A	2.37:g.231973478C>T	ENSP00000258400:p.Arg400Gln					PSMD1_ENST00000409643.1_Intron|PSMD1_ENST00000373635.4_Intron|PSMD1_ENST00000308696.6_Intron|PSMD1_ENST00000488354.1_3'UTR	p.R400Q	NM_000867.4	NP_000858.3	P41595	5HT2B_HUMAN		Epithelial(121;4.48e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0141)	4	1711	-		Renal(207;0.025)|all_hematologic(139;0.094)|Acute lymphoblastic leukemia(138;0.164)|Medulloblastoma(418;0.232)	400					B2R9D5|Q53TI1|Q62221|Q6P523	Missense_Mutation	SNP	ENST00000258400.3	37	c.1199G>A	CCDS2483.1	.	.	.	.	.	.	.	.	.	.	C	9.383	1.073630	0.20147	0.0	4.65E-4	ENSG00000135914	ENST00000258400	T	0.37584	1.19	5.9	-3.96	0.04106	.	0.892341	0.10073	N	0.719475	T	0.26557	0.0649	L	0.33485	1.01	0.09310	N	1	B;B	0.10296	0.003;0.003	B;B	0.09377	0.004;0.004	T	0.27571	-1.0070	10	0.40728	T	0.16	.	14.5838	0.68310	0.0:0.5123:0.0:0.4877	.	215;400	B3VRC5;P41595	.;5HT2B_HUMAN	Q	400	ENSP00000258400:R400Q	ENSP00000258400:R400Q	R	-	2	0	HTR2B	231681722	0.000000	0.05858	0.693000	0.30195	0.478000	0.33099	-0.858000	0.04281	-0.413000	0.07507	-0.312000	0.09012	CGG		0.423	HTR2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256957.2	NM_000867		38	77	0	0	0	1	0	38	77					T	231973478	C	T	231973478	3	4	341	1	0	0	0	0	1	0	0	0	7442	652	23	2	250	2	HTR2B	2	231973478	Missense_Mutation	SNP	C	TCGA-KK-A8ID-01A-11D-A364-08	8887526	231973478	11225895	16	17245											
KIF1A	547	broad.mit.edu	37	chr2	241689898	241689898	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cccttcacctcgcccttctcGctgacgattgccacacggtg	5	10	8	18	4	2	1	1	1	1	0	4	2	2	1	4	1	1	1	4	1	0	3	rs556611351	byFrequency	TCGA-KK-A8ID-01A-11D-A364-08	TCGA-KK-A8ID-11A-12D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	434c8d21-e732-4485-a382-84e8abf8bdb5	686e0817-587f-49c3-b654-8141a09dd79b	g.chr2:241689898G>A	ENST00000320389.7	-	26	2780	c.2622C>T	c.(2620-2622)agC>agT	p.S874S	KIF1A_ENST00000498729.2_Silent_p.S975S	NM_004321.6	NP_004312.2	Q12756	KIF1A_HUMAN	kinesin family member 1A	874					anterograde axon cargo transport (GO:0008089)|ATP catabolic process (GO:0006200)|cell death (GO:0008219)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|motor activity (GO:0003774)|plus-end-directed microtubule motor activity (GO:0008574)			NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)		CGCCCTTCTCGCTGACGATTG	0.662													G|||	2	0.000399361	0.0015	0	5008	,	,		18994	0		0	False		,,,				2504	0					ENST00000498729.2																			0				NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66						c.(2923-2925)agC>agT		kinesin family member 1A							66	75	72					2																	241689898		2161	4273	6434	SO:0001819	synonymous_variant	547				anterograde axon cargo transport	cytoplasm|microtubule|nucleus	ATP binding|microtubule motor activity	g.chr2:241689898G>A	AF004425	CCDS46561.1, CCDS58757.1	2q37.2	2014-09-17	2004-01-09	2004-01-14	ENSG00000130294	ENSG00000130294		"Kinesins", "Pleckstrin homology (PH) domain containing"	888	protein-coding gene	gene with protein product		601255	"axonal transport of synaptic vesicles", "chromosome 2 open reading frame 20", "spastic paraplegia 30 (autosomal recessive)"	ATSV, C2orf20, SPG30		7539720, 10323250, 22258533	Standard	NM_001244008		Approved	UNC104	uc010fzk.3	Q12756	OTTHUMG00000151940	ENST00000320389.7:c.2622C>T	2.37:g.241689898G>A						KIF1A_ENST00000320389.7_Silent_p.S874S	p.S975S	NM_001244008.1	NP_001230937.1	Q12756	KIF1A_HUMAN		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)	28	3171	-		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)	874					B0I1S5|F5H045|O95068|Q13355|Q14752|Q2NKJ6|Q4LE42|Q53T78|Q59GH1|Q63Z40|Q6P1R9|Q7KZ57	Silent	SNP	ENST00000320389.7	37	c.2925C>T	CCDS46561.1																																																																																				0.662	KIF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324536.3	NM_138483		11	32	0	0	0	1	0	11	32					A	241689898	G	A	241689898	2	1	341	1	0	0	0	0	0	0	0	1	8283	1078	38	1		1	KIF1A	2	241689898	Silent	SNP	G	TCGA-KK-A8ID-01A-11D-A364-08	9716420	241689898	1509475	17	17246											
IRAK2	3656	broad.mit.edu	37	chr3	10264445	10264445	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgctccggacgtcagccgCgtatctgccagaggatttca	7	9	11	14	4	3	1	2	0	1	1	4	3	4	3	4	2	3	2	4	2	1	2	rs371881199		TCGA-KK-A8ID-01A-11D-A364-08	TCGA-KK-A8ID-11A-12D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	434c8d21-e732-4485-a382-84e8abf8bdb5	686e0817-587f-49c3-b654-8141a09dd79b	g.chr3:10264445C>T	ENST00000256458.4	+	9	1229	c.1139C>T	c.(1138-1140)gCg>gTg	p.A380V		NM_001570.3	NP_001561.3	O43187	IRAK2_HUMAN	interleukin-1 receptor-associated kinase 2	380	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-1-mediated signaling pathway (GO:0070498)|JNK cascade (GO:0007254)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein phosphorylation (GO:0006468)|regulation of cytokine-mediated signaling pathway (GO:0001959)|response to interleukin-1 (GO:0070555)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|endosome membrane (GO:0010008)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)			breast(4)|large_intestine(8)|lung(11)|prostate(1)|stomach(1)	25						ACGTCAGCCGCGTATCTGCCA	0.532																																						ENST00000256458.4																			0				breast(4)|large_intestine(8)|lung(11)|prostate(1)|stomach(1)	25						c.(1138-1140)gCg>gTg		interleukin-1 receptor-associated kinase 2		C	VAL/ALA	0,4406		0,0,2203	130	127	128		1139	5.1	0.1	3		128	1,8599	1.2+/-3.3	0,1,4299	no	missense	IRAK2	NM_001570.3	64	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging	380/626	10264445	1,13005	2203	4300	6503	SO:0001583	missense	3656				activation of MAPK activity|I-kappaB kinase/NF-kappaB cascade|inflammatory response|innate immune response|interleukin-1-mediated signaling pathway|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of NF-kappaB transcription factor activity|positive regulation of NF-kappaB transcription factor activity|regulation of cytokine-mediated signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cell surface|cytosol|endosome membrane|plasma membrane	ATP binding|NF-kappaB-inducing kinase activity|protein heterodimerization activity|protein homodimerization activity	g.chr3:10264445C>T	AF026273	CCDS33697.1	3p25.2	2008-08-18			ENSG00000134070	ENSG00000134070			6113	protein-coding gene	gene with protein product		603304				9374458	Standard	XR_245126		Approved		uc003bve.1	O43187	OTTHUMG00000155358	ENST00000256458.4:c.1139C>T	3.37:g.10264445C>T	ENSP00000256458:p.Ala380Val						p.A380V	NM_001570.3	NP_001561.3	O43187	IRAK2_HUMAN			9	1229	+			380			Protein kinase.		B4DQZ6|Q08AG6|Q5K546	Missense_Mutation	SNP	ENST00000256458.4	37	c.1139C>T	CCDS33697.1	.	.	.	.	.	.	.	.	.	.	C	14.57	2.573473	0.45902	0.0	1.16E-4	ENSG00000134070	ENST00000256458	T	0.65916	-0.18	5.14	5.14	0.70334	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.128357	0.35179	N	0.003399	T	0.74366	0.3707	L	0.60455	1.87	0.24989	N	0.991549	D	0.76494	0.999	D	0.68192	0.956	T	0.68150	-0.5485	10	0.72032	D	0.01	-17.5491	14.105	0.65083	0.0:1.0:0.0:0.0	.	380	O43187	IRAK2_HUMAN	V	380	ENSP00000256458:A380V	ENSP00000256458:A380V	A	+	2	0	IRAK2	10239445	0.964000	0.33143	0.065000	0.19835	0.008000	0.06430	4.301000	0.59086	2.369000	0.80426	0.655000	0.94253	GCG		0.532	IRAK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339623.1			6	88	0	0	0	1	0	6	88					T	10264445	C	T	10264445	3	4	341	1	0	0	0	0	1	0	0	0	7823	768	27	1	1173	1	IRAK2	3	10264445	Missense_Mutation	SNP	C	TCGA-KK-A8ID-01A-11D-A364-08		10264445	187757985	18	17247											
SCN11A	11280	broad.mit.edu	37	chr3	38924808	38924808	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atttggtagcaggttttccgCaggttccaccaaatgaccca	10	11	9	11	1	0	1	0	1	0	0	2	1	2	1	4	3	1	5	4	3	2	5			TCGA-KK-A8ID-01A-11D-A364-08	TCGA-KK-A8ID-11A-12D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	434c8d21-e732-4485-a382-84e8abf8bdb5	686e0817-587f-49c3-b654-8141a09dd79b	g.chr3:38924808C>A	ENST00000302328.3	-	18	3333	c.3135G>T	c.(3133-3135)ctG>ctT	p.L1045L	SCN11A_ENST00000444237.2_Silent_p.L1045L|SCN11A_ENST00000450244.1_Silent_p.L1045L|SCN11A_ENST00000456224.3_Silent_p.L1007L	NM_014139.2	NP_054858.2	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	1045					cell death (GO:0008219)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|regulation of sensory perception of pain (GO:0051930)|response to drug (GO:0042493)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	C-fiber (GO:0044299)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)|Valproic Acid(DB00313)|Zonisamide(DB00909)	AGGTTTTCCGCAGGTTCCACC	0.453																																						ENST00000450244.1																			0				NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119						c.(3133-3135)ctG>ctT		sodium channel, voltage-gated, type XI, alpha subunit	Cocaine(DB00907)						118	109	112					3																	38924808		2203	4300	6503	SO:0001819	synonymous_variant	11280				response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr3:38924808C>A	AF126739	CCDS33737.1	3p22.2	2012-02-26	2007-01-23		ENSG00000168356	ENSG00000168356		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10583	protein-coding gene	gene with protein product		604385	"sodium channel, voltage-gated, type XI, alpha polypeptide", "sodium channel, voltage-gated, type XII, alpha"	SCN12A		10444332, 16382098	Standard	NM_014139		Approved	Nav1.9, NaN, SNS-2	uc021wvy.1	Q9UI33	OTTHUMG00000048246	ENST00000302328.3:c.3135G>T	3.37:g.38924808C>A						SCN11A_ENST00000456224.3_Silent_p.L1007L|SCN11A_ENST00000444237.2_Silent_p.L1045L|SCN11A_ENST00000302328.3_Silent_p.L1045L	p.L1045L			Q9UI33	SCNBA_HUMAN		Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	18	3333	-			1045					A6NN05|C9JD48|C9JR31|Q68K15|Q8NDX3|Q9UHE0|Q9UHM0	Silent	SNP	ENST00000302328.3	37	c.3135G>T	CCDS33737.1																																																																																				0.453	SCN11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109746.4	NM_014139		21	38	1	0	5.35047e-06	1	5.84985e-06	21	38					A	38924808	C	A	38924808	2	1	341	1	0	0	0	0	0	0	0	1	13913	697	25	5		5	SCN11A	3	38924808	Silent	SNP	C	TCGA-KK-A8ID-01A-11D-A364-08	28660363	38924808	159097622	19	17248											
TNK2	10188	broad.mit.edu	37	chr3	195595228	195595229	+	Frame_Shift_Ins	INS	-	-	G																															ccacgtcgtcataggcgggcINSggggggggcagcgggcgtgc																								rs541695993	byFrequency	TCGA-KK-A8ID-01A-11D-A364-08	TCGA-KK-A8ID-11A-12D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	434c8d21-e732-4485-a382-84e8abf8bdb5	686e0817-587f-49c3-b654-8141a09dd79b	g.chr3:195595228_195595229insG	ENST00000333602.6	-	12	2512_2513	c.1895_1896insC	c.(1894-1896)ccgfs	p.P632fs	TNK2_ENST00000392400.1_Frame_Shift_Ins_p.P632fs|TNK2_ENST00000381916.2_Frame_Shift_Ins_p.P710fs|TNK2_ENST00000428187.1_Frame_Shift_Ins_p.P664fs	NM_005781.4	NP_005772.3	Q07912	ACK1_HUMAN	tyrosine kinase, non-receptor, 2	632	Pro-rich.|Required for interaction with NEDD4. {ECO:0000250}.|Required for interaction with SRC.			Missing (in Ref. 4; AAH08884). {ECO:0000305}.	cell surface receptor signaling pathway (GO:0007166)|endocytosis (GO:0006897)|negative regulation of catalytic activity (GO:0043086)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|regulation of clathrin-mediated endocytosis (GO:2000369)|small GTPase mediated signal transduction (GO:0007264)	axon (GO:0030424)|cell junction (GO:0030054)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|endosome (GO:0005768)|Grb2-EGFR complex (GO:0070436)|growth cone (GO:0030426)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|epidermal growth factor receptor binding (GO:0005154)|GTPase inhibitor activity (GO:0005095)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)|WW domain binding (GO:0050699)			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(11)|ovary(3)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	29	all_cancers(143;6.48e-09)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;1.46e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.3e-19)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;0.000757)	Adenosine triphosphate(DB00171)	CATAGGCGGGCGGGGGGGGCAG	0.728																																						ENST00000333602.6																			0				central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(11)|ovary(3)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	29						c.(1894-1896)cccfs		tyrosine kinase, non-receptor, 2	Adenosine triphosphate(DB00171)																																			SO:0001589	frameshift_variant	10188				positive regulation of peptidyl-tyrosine phosphorylation|protein ubiquitination|small GTPase mediated signal transduction	adherens junction|cytoplasmic vesicle membrane|endosome|nucleus	ATP binding|GTPase inhibitor activity|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding	g.chr3:195595228_195595229insG	L13738	CCDS33927.1, CCDS33928.1	3q29	2013-09-02			ENSG00000061938	ENSG00000061938			19297	protein-coding gene	gene with protein product	"activated Cdc42-associated kinase 1"	606994				8497321, 14506255	Standard	XM_006713460		Approved	p21cdc42Hs, ACK, ACK1	uc003fvt.1	Q07912	OTTHUMG00000155737	ENST00000333602.6:c.1896dupC	3.37:g.195595236_195595236dupG	ENSP00000329425:p.Pro632fs					TNK2_ENST00000428187.1_Frame_Shift_Ins_p.P664fs|TNK2_ENST00000392400.1_Frame_Shift_Ins_p.P632fs|TNK2_ENST00000381916.2_Frame_Shift_Ins_p.P710fs	p.P632fs	NM_005781.4	NP_005772.3	Q07912	ACK1_HUMAN	Epithelial(36;3.72e-24)|all cancers(36;1.46e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.3e-19)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;0.000757)	12	2512_2513	-	all_cancers(143;6.48e-09)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	632	Missing (in Ref. 4; AAH08884).		Pro-rich.|Required for interaction with NEDD4 (By similarity).|Required for interaction with SRC.		Q6ZMQ0|Q8N6U7|Q96H59	Frame_Shift_Ins	INS	ENST00000333602.6	37	c.1895_1896insC	CCDS33928.1																																																																																				0.728	TNK2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341437.3	NM_005781		27	33						27	33	---	---	---	---	G	195595229	-	G	195595228	7	5	341	1	0	1	1	0	0	0	0	0	16315	755	27	0	1236	0	TNK2	3	195595228	Frame_Shift_Ins	INS	-	TCGA-KK-A8ID-01A-11D-A364-08	156670420	195595228	2427202	20	17249											
ZDHHC19	131540	broad.mit.edu	37	chr3	195925262	195925262	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gacattggagggtgcagattCggcatggatgtccagtcagg	9	9	16	7	1	1	1	1	0	0	1	3	4	2	3	1	5	1	2	1	5	0	2			TCGA-KK-A8ID-01A-11D-A364-08	TCGA-KK-A8ID-11A-12D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	434c8d21-e732-4485-a382-84e8abf8bdb5	686e0817-587f-49c3-b654-8141a09dd79b	g.chr3:195925262C>T	ENST00000296326.3	-	7	913	c.834G>A	c.(832-834)ccG>ccA	p.P278P		NM_001039617.1	NP_001034706.1	Q8WVZ1	ZDH19_HUMAN	zinc finger, DHHC-type containing 19	278						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(7)|ovary(3)	14	all_cancers(143;1.68e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;1.89e-25)|all cancers(36;1.46e-23)|OV - Ovarian serous cystadenocarcinoma(49;2.1e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.0022)		GGTGCAGATTCGGCATGGATG	0.652																																						ENST00000296326.3																			0				breast(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(7)|ovary(3)	14						c.(832-834)ccG>ccA		zinc finger, DHHC-type containing 19							41	46	44					3																	195925262		2090	4220	6310	SO:0001819	synonymous_variant	131540					integral to membrane	acyltransferase activity|zinc ion binding	g.chr3:195925262C>T	BC022078	CCDS43190.1	3q29	2008-05-02			ENSG00000163958	ENSG00000163958		"Zinc fingers, DHHC-type"	20713	protein-coding gene	gene with protein product							Standard	XR_246038		Approved	MGC33345	uc003fwc.3	Q8WVZ1	OTTHUMG00000133642	ENST00000296326.3:c.834G>A	3.37:g.195925262C>T							p.P278P	NM_001039617.1	NP_001034706.1	Q8WVZ1	ZDH19_HUMAN	Epithelial(36;1.89e-25)|all cancers(36;1.46e-23)|OV - Ovarian serous cystadenocarcinoma(49;2.1e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.0022)	7	913	-	all_cancers(143;1.68e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		278					A8MSY6|B3KVI1	Silent	SNP	ENST00000296326.3	37	c.834G>A	CCDS43190.1																																																																																				0.652	ZDHHC19-007	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341533.1	NM_144637		6	22	0	0	0	1	0	6	22					T	195925262	C	T	195925262	2	4	341	1	0	0	0	0	0	0	0	1	17606	871	31	2		2	ZDHHC19	3	195925262	Silent	SNP	C	TCGA-KK-A8ID-01A-11D-A364-08	330034	195925262	2097168	21	17250											
GABRG1	2565	broad.mit.edu	37	chr4	46067500	46067500	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgtcaggaatccaaattttTccaaccatattactgttaag	13	14	6	8	0	1	0	1	0	0	0	3	1	3	1	3	1	2	1	3	1	6	5			TCGA-KK-A8ID-01A-11D-A364-08	TCGA-KK-A8ID-11A-12D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	434c8d21-e732-4485-a382-84e8abf8bdb5	686e0817-587f-49c3-b654-8141a09dd79b	g.chr4:46067500T>C	ENST00000295452.4	-	4	590	c.423A>G	c.(421-423)ggA>ggG	p.G141G		NM_173536.3	NP_775807.2	Q8N1C3	GBRG1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 1	141					gamma-aminobutyric acid signaling pathway (GO:0007214)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	76				Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	TCCAAATTTTTCCAACCATAT	0.343																																						ENST00000295452.4																			0				breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	76						c.(421-423)ggA>ggG		gamma-aminobutyric acid (GABA) A receptor, gamma 1							80	80	80					4																	46067500		2203	4300	6503	SO:0001819	synonymous_variant	2565				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity	g.chr4:46067500T>C	BC031087	CCDS3470.1	4p12	2012-06-22			ENSG00000163285	ENSG00000163285		"GABA receptors", "Ligand-gated ion channels / GABA(A) receptors"	4086	protein-coding gene	gene with protein product	"GABA(A) receptor, gamma"	137166				1321425	Standard	NM_173536		Approved		uc003gxb.3	Q8N1C3	OTTHUMG00000128609	ENST00000295452.4:c.423A>G	4.37:g.46067500T>C							p.G141G	NM_173536.3	NP_775807.2	Q8N1C3	GBRG1_HUMAN		Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23)	4	590	-			141					Q5H9T8	Silent	SNP	ENST00000295452.4	37	c.423A>G	CCDS3470.1																																																																																				0.343	GABRG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250470.1	NM_173536		21	43	0	0	0	1	0	21	43					C	46067500	T	C	46067500	2	2	341	1	0	0	0	0	0	0	0	1	6171	1770	62	4		4	GABRG1	4	46067500	Silent	SNP	T	TCGA-KK-A8ID-01A-11D-A364-08		46067500	145086776	22	17251											
GABRB1	2560	broad.mit.edu	37	chr4	47405709	47405709	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggatcaactatgatgcatcTgcagccagagtcgcactagg	11	9	11	10	1	2	2	1	1	1	1	3	3	2	3	1	2	4	3	1	2	3	2			TCGA-KK-A8ID-01A-11D-A364-08	TCGA-KK-A8ID-11A-12D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	434c8d21-e732-4485-a382-84e8abf8bdb5	686e0817-587f-49c3-b654-8141a09dd79b	g.chr4:47405709T>G	ENST00000295454.3	+	7	1108	c.816T>G	c.(814-816)tcT>tcG	p.S272S	GABRB1_ENST00000538619.1_Silent_p.S202S	NM_000812.3	NP_000803.2	P18505	GBRB1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 1	272					cellular response to histamine (GO:0071420)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|GABA-A receptor complex (GO:1902711)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)|ligand-gated ion channel activity (GO:0015276)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44					Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Gamma Hydroxybutyric Acid(DB01440)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lindane(DB00431)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	ATGATGCATCTGCAGCCAGAG	0.388																																						ENST00000295454.3																			0				central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						c.(814-816)tcT>tcG		gamma-aminobutyric acid (GABA) A receptor, beta 1	Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)						115	110	111					4																	47405709		2203	4300	6503	SO:0001819	synonymous_variant	2560				synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chr4:47405709T>G		CCDS3474.1	4p12	2012-06-22			ENSG00000163288	ENSG00000163288		"GABA receptors", "Ligand-gated ion channels / GABA(A) receptors"	4081	protein-coding gene	gene with protein product	"GABA(A) receptor, beta 1"	137190					Standard	NM_000812		Approved		uc003gxh.3	P18505	OTTHUMG00000044269	ENST00000295454.3:c.816T>G	4.37:g.47405709T>G						GABRB1_ENST00000538619.1_Silent_p.S202S	p.S272S	NM_000812.3	NP_000803.2	P18505	GBRB1_HUMAN			7	1108	+			272					B2R6U7|D6REL3|Q16166|Q8TBK3	Silent	SNP	ENST00000295454.3	37	c.816T>G	CCDS3474.1																																																																																				0.388	GABRB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216896.1			34	68	0	0	0	1	0	34	68					G	47405709	T	G	47405709	2	3	341	1	0	0	0	0	0	0	0	1	6166	1567	55	5		5	GABRB1	4	47405709	Silent	SNP	T	TCGA-KK-A8ID-01A-11D-A364-08	1338209	47405709	143748567	23	17252											
CTSO	1519	broad.mit.edu	37	chr4	156863585	156863585	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgagtatctgggaaacttggAaggtttgcttcttaaataaa	13	14	10	4	0	2	1	0	1	2	0	2	3	2	3	0	3	2	3	0	3	7	6			TCGA-KK-A8ID-01A-11D-A364-08	TCGA-KK-A8ID-11A-12D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	434c8d21-e732-4485-a382-84e8abf8bdb5	686e0817-587f-49c3-b654-8141a09dd79b	g.chr4:156863585A>C	ENST00000433477.3	-	3	337	c.268T>G	c.(268-270)Tcc>Gcc	p.S90A		NM_001334.2	NP_001325.1	P43235	CATK_HUMAN	cathepsin O	0					bone resorption (GO:0045453)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|innate immune response (GO:0045087)|intramembranous ossification (GO:0001957)|proteolysis (GO:0006508)|proteolysis involved in cellular protein catabolic process (GO:0051603)|toll-like receptor signaling pathway (GO:0002224)	endolysosome lumen (GO:0036021)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	collagen binding (GO:0005518)|cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)|fibronectin binding (GO:0001968)|proteoglycan binding (GO:0043394)			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(3)|prostate(1)	16	all_hematologic(180;0.24)	Renal(120;0.0458)		KIRC - Kidney renal clear cell carcinoma(143;0.05)|Kidney(143;0.0627)|COAD - Colon adenocarcinoma(41;0.148)		GGAAACTTGGAAGGTTTGCTT	0.323																																					Pancreas(148;2303 2598 8989 35298)	ENST00000433477.3																			0				breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(3)|prostate(1)	16						c.(268-270)Tcc>Gcc		cathepsin O							116	109	111					4																	156863585		2203	4300	6503	SO:0001583	missense	1519				proteolysis	lysosome	cysteine-type endopeptidase activity	g.chr4:156863585A>C	X77383	CCDS3794.1	4q32.1	2012-10-03			ENSG00000256043	ENSG00000256043		"Cathepsins"	2542	protein-coding gene	gene with protein product		600550		CTSO1		9790772	Standard	NM_001334		Approved		uc003ipg.3	P43234	OTTHUMG00000161942	ENST00000433477.3:c.268T>G	4.37:g.156863585A>C	ENSP00000414904:p.Ser90Ala						p.S90A	NM_001334.2	NP_001325.1	P43234	CATO_HUMAN		KIRC - Kidney renal clear cell carcinoma(143;0.05)|Kidney(143;0.0627)|COAD - Colon adenocarcinoma(41;0.148)	3	337	-	all_hematologic(180;0.24)	Renal(120;0.0458)	90					Q6FHS6	Missense_Mutation	SNP	ENST00000433477.3	37	c.268T>G	CCDS3794.1	.	.	.	.	.	.	.	.	.	.	A	7.343	0.621317	0.14193	.	.	ENSG00000256043	ENST00000433477	T	0.29397	1.57	5.52	2.92	0.33932	.	0.503195	0.23098	N	0.051957	T	0.13030	0.0316	N	0.17082	0.46	0.09310	N	1	B	0.09022	0.002	B	0.11329	0.006	T	0.30563	-0.9974	10	0.07813	T	0.8	.	2.694	0.05129	0.5524:0.1293:0.0694:0.2489	.	90	P43234	CATO_HUMAN	A	90	ENSP00000414904:S90A	ENSP00000281527:S90A	S	-	1	0	CTSO	157083035	0.264000	0.24093	0.030000	0.17652	0.506000	0.33950	0.454000	0.21827	0.330000	0.23485	0.533000	0.62120	TCC		0.323	CTSO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366469.1	NM_001334		33	57	0	0	0	1	0	33	57					C	156863585	A	C	156863585	3	2	341	1	0	0	0	0	1	0	0	0	4040	246	9	5	721	5	CTSO	4	156863585	Missense_Mutation	SNP	A	TCGA-KK-A8ID-01A-11D-A364-08	109457876	156863585	34290691	24	17253											
HMGB2	3148	broad.mit.edu	37	chr4	174253253	174253253	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attcttcatcttcatcctctTcctcctcatcttcatcttct	5	20	0	16	0	10	0	4	0	6	0	13	0	13	0	3	0	0	0	3	0	0	6			TCGA-KK-A8ID-01A-11D-A364-08	TCGA-KK-A8ID-11A-12D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	434c8d21-e732-4485-a382-84e8abf8bdb5	686e0817-587f-49c3-b654-8141a09dd79b	g.chr4:174253253T>C	ENST00000296503.5	-	5	1481	c.608A>G	c.(607-609)gAa>gGa	p.E203G	HMGB2_ENST00000438704.2_Missense_Mutation_p.E203G|RP11-798M19.3_ENST00000507803.1_RNA|HMGB2_ENST00000446922.2_Missense_Mutation_p.E203G			P26583	HMGB2_HUMAN	high mobility group box 2	203	Asp/Glu-rich (acidic).				apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|base-excision repair, DNA ligation (GO:0006288)|cell chemotaxis (GO:0060326)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to lipopolysaccharide (GO:0071222)|chromatin organization (GO:0006325)|DNA ligation involved in DNA repair (GO:0051103)|DNA topological change (GO:0006265)|male gonad development (GO:0008584)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive chemotaxis (GO:0050918)|positive regulation of DNA binding (GO:0043388)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of megakaryocyte differentiation (GO:0045654)|positive regulation of nuclease activity (GO:0032075)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to steroid hormone (GO:0048545)|spermatid nucleus differentiation (GO:0007289)|V(D)J recombination (GO:0033151)	condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|protein complex (GO:0043234)	chemoattractant activity (GO:0042056)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|DNA binding, bending (GO:0008301)|double-stranded DNA binding (GO:0003690)|poly(A) RNA binding (GO:0044822)|RAGE receptor binding (GO:0050786)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription regulatory region DNA binding (GO:0044212)			endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|urinary_tract(3)	14		Prostate(90;0.0132)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_hematologic(60;0.107)|all_neural(102;0.122)		all cancers(43;9.58e-18)|Epithelial(43;3.75e-16)|OV - Ovarian serous cystadenocarcinoma(60;6.24e-09)|STAD - Stomach adenocarcinoma(60;0.00273)|GBM - Glioblastoma multiforme(59;0.0064)|LUSC - Lung squamous cell carcinoma(193;0.0903)|Kidney(143;0.249)		ttcatcctcttcctcctcatc	0.448																																						ENST00000296503.5																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|urinary_tract(3)	14						c.(607-609)gAa>gGa		high mobility group box 2							389	325	347					4																	174253253		2203	4300	6503	SO:0001583	missense	3148				base-excision repair, DNA ligation|cell chemotaxis|cellular response to lipopolysaccharide|DNA fragmentation involved in apoptotic nuclear change|DNA topological change|negative regulation of transcription, DNA-dependent|nucleosome assembly|phosphatidylinositol-mediated signaling|positive regulation of DNA binding|positive regulation of endothelial cell proliferation|positive regulation of erythrocyte differentiation|positive regulation of megakaryocyte differentiation|positive regulation of nuclease activity|positive regulation of transcription from RNA polymerase II promoter|V(D)J recombination	condensed chromosome|extracellular space|nucleolus|nucleoplasm|perinuclear region of cytoplasm|protein complex	chemoattractant activity|damaged DNA binding|DNA bending activity|double-stranded DNA binding|RAGE receptor binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding|transcription regulatory region DNA binding	g.chr4:174253253T>C		CCDS3816.1	4q31	2011-07-01	2011-04-05	2002-08-16	ENSG00000164104	ENSG00000164104		"High-mobility group / Canonical"	5000	protein-coding gene	gene with protein product		163906	"high-mobility group (nonhistone chromosomal) protein 2", "high-mobility group box 2"	HMG2		1754403	Standard	NM_002129		Approved		uc011ckc.1	P26583	OTTHUMG00000160799	ENST00000296503.5:c.608A>G	4.37:g.174253253T>C	ENSP00000296503:p.Glu203Gly					HMGB2_ENST00000438704.2_Missense_Mutation_p.E203G|HMGB2_ENST00000446922.2_Missense_Mutation_p.E203G	p.E203G			P26583	HMGB2_HUMAN		all cancers(43;9.58e-18)|Epithelial(43;3.75e-16)|OV - Ovarian serous cystadenocarcinoma(60;6.24e-09)|STAD - Stomach adenocarcinoma(60;0.00273)|GBM - Glioblastoma multiforme(59;0.0064)|LUSC - Lung squamous cell carcinoma(193;0.0903)|Kidney(143;0.249)	5	1481	-		Prostate(90;0.0132)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_hematologic(60;0.107)|all_neural(102;0.122)	203			Asp/Glu-rich (acidic).		B2R4K8|D3DP37|Q5U072	Missense_Mutation	SNP	ENST00000296503.5	37	c.608A>G	CCDS3816.1	.	.	.	.	.	.	.	.	.	.	T	14.18	2.458031	0.43634	.	.	ENSG00000164104	ENST00000296503;ENST00000446922;ENST00000438704	D;D;D	0.95205	-3.64;-3.64;-3.64	5.9	4.71	0.59529	.	0.000000	0.56097	D	0.000026	D	0.86628	0.5978	N	0.08118	0	0.45403	D	0.998389	B	0.02656	0.0	B	0.01281	0.0	T	0.80770	-0.1234	10	0.42905	T	0.14	.	10.9263	0.47193	0.0:0.0744:0.0:0.9256	.	203	P26583	HMGB2_HUMAN	G	203	ENSP00000296503:E203G;ENSP00000393448:E203G;ENSP00000404912:E203G	ENSP00000296503:E203G	E	-	2	0	HMGB2	174489828	1.000000	0.71417	0.998000	0.56505	0.310000	0.27922	6.029000	0.70895	1.049000	0.40321	0.528000	0.53228	GAA		0.448	HMGB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362362.1	NM_001130688		8	167	0	0	0	1	0	8	167					C	174253253	T	C	174253253	3	2	341	1	0	0	0	0	1	0	0	0	7226	1783	62	4	25	4	HMGB2	4	174253253	Missense_Mutation	SNP	T	TCGA-KK-A8ID-01A-11D-A364-08	17389668	174253253	16901023	25	17254											
SSBP2	23635	broad.mit.edu	37	chr5	80809507	80809507	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tctcctgggggaatgtttccTagcactggactgggagctgc	6	11	14	10	0	1	0	0	0	1	0	3	3	2	3	2	4	3	3	2	4	2	2			TCGA-KK-A8ID-01A-11D-A364-08	TCGA-KK-A8ID-11A-12D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	434c8d21-e732-4485-a382-84e8abf8bdb5	686e0817-587f-49c3-b654-8141a09dd79b	g.chr5:80809507T>G	ENST00000320672.4	-	5	522	c.312A>C	c.(310-312)ctA>ctC	p.L104L	SSBP2_ENST00000514493.1_Intron|SSBP2_ENST00000509053.1_Intron|SSBP2_ENST00000515395.1_Intron|SSBP2_ENST00000505980.1_Silent_p.L104L	NM_001256732.1|NM_001256733.1|NM_012446.3	NP_001243661.1|NP_001243662.1|NP_036578.2	P81877	SSBP2_HUMAN	single-stranded DNA binding protein 2	104	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	single-stranded DNA binding (GO:0003697)		SSBP2/JAK2(4)	central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	10		Lung NSC(167;0.00154)|all_lung(232;0.00179)|Ovarian(174;0.0338)		OV - Ovarian serous cystadenocarcinoma(54;1.07e-41)|Epithelial(54;2.79e-35)|all cancers(79;1.18e-29)		GAATGTTTCCTAGCACTGGAC	0.448																																						ENST00000320672.4																		SSBP2/JAK2(4)	0				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	10						c.(310-312)ctA>ctC		single-stranded DNA binding protein 2							107	103	105					5																	80809507		2203	4300	6503	SO:0001819	synonymous_variant	23635				regulation of transcription, DNA-dependent	cytoplasm|nucleus	single-stranded DNA binding	g.chr5:80809507T>G	AF077048	CCDS4056.1, CCDS58960.1, CCDS58961.1, CCDS58962.1, CCDS58963.1, CCDS75268.1	5q14.1	2012-05-25	2001-11-28		ENSG00000145687	ENSG00000145687			15831	protein-coding gene	gene with protein product		607389	"single-stranded DNA-binding protein 2"			11230166, 11042152	Standard	NM_001256732		Approved	HSPC116	uc003khp.4	P81877	OTTHUMG00000119039	ENST00000320672.4:c.312A>C	5.37:g.80809507T>G						SSBP2_ENST00000514493.1_Intron|SSBP2_ENST00000505980.1_Silent_p.L104L|SSBP2_ENST00000515395.1_Intron|SSBP2_ENST00000509053.1_Intron	p.L104L	NM_001256732.1|NM_001256733.1|NM_012446.3	NP_001243661.1|NP_001243662.1|NP_036578.2	P81877	SSBP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;1.07e-41)|Epithelial(54;2.79e-35)|all cancers(79;1.18e-29)	5	522	-		Lung NSC(167;0.00154)|all_lung(232;0.00179)|Ovarian(174;0.0338)	104			Pro-rich.		B2R5W1|B7Z1J2|B7Z2L9|B7Z665|D6RH18|E9PB74|E9PDA8|Q8N2Q2|Q9BWW6|Q9Y4T7	Silent	SNP	ENST00000320672.4	37	c.312A>C	CCDS4056.1																																																																																				0.448	SSBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239249.1	NM_012446		64	67	0	0	0	1	0	64	67					G	80809507	T	G	80809507	2	3	341	1	0	0	0	0	0	0	0	1	15179	1509	53	5		5	SSBP2	5	80809507	Silent	SNP	T	TCGA-KK-A8ID-01A-11D-A364-08		80809507	100105753	26	17255											
GPR98	84059	broad.mit.edu	37	chr5	89986832	89986832	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ccttgttgttagaggtcctgGctgacgacgttccggagatt	6	13	13	9	3	0	3	0	1	0	2	2	5	2	3	3	3	0	4	3	3	1	5	rs201528839		TCGA-KK-A8ID-01A-11D-A364-08	TCGA-KK-A8ID-11A-12D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	434c8d21-e732-4485-a382-84e8abf8bdb5	686e0817-587f-49c3-b654-8141a09dd79b	g.chr5:89986832G>A	ENST00000405460.2	+	31	7021	c.6925G>A	c.(6925-6927)Gct>Act	p.A2309T		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	2309	Calx-beta 16. {ECO:0000255}.				detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		AGAGGTCCTGGCTGACGACGT	0.473																																						ENST00000405460.2																			0				NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269						c.(6925-6927)Gct>Act		G protein-coupled receptor 98		G	THR/ALA	0,3922		0,0,1961	135	130	132		6925	5.1	1	5		132	3,8315		0,3,4156	yes	missense	GPR98	NM_032119.3	58	0,3,6117	AA,AG,GG		0.0361,0.0,0.0245	probably-damaging	2309/6307	89986832	3,12237	1961	4159	6120	SO:0001583	missense	84059				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr5:89986832G>A	AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"-", "GPCR / Class B : Orphans"	17416	protein-coding gene	gene with protein product		602851	"monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.6925G>A	5.37:g.89986832G>A	ENSP00000384582:p.Ala2309Thr						p.A2309T	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)	31	7021	+		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)	2309			Calx-beta 16.		O75171|Q8TF58|Q9H0X5|Q9UL61	Missense_Mutation	SNP	ENST00000405460.2	37	c.6925G>A	CCDS47246.1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.452764	0.84209	0.0	3.61E-4	ENSG00000164199	ENST00000405460;ENST00000296619	T	0.27557	1.66	5.94	5.07	0.68467	Na-Ca exchanger/integrin-beta4 (1);	0.092905	0.85682	D	0.000000	T	0.43964	0.1271	L	0.27053	0.805	0.80722	D	1	D	0.89917	1.0	D	0.77004	0.989	T	0.40459	-0.9562	10	0.46703	T	0.11	.	17.2281	0.86977	0.0:0.1258:0.8742:0.0	.	2309	Q8WXG9	GPR98_HUMAN	T	2309	ENSP00000384582:A2309T	ENSP00000296619:A2309T	A	+	1	0	GPR98	90022588	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.497000	0.66924	1.496000	0.48567	0.591000	0.81541	GCT		0.473	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2	NM_032119		23	109	0	0	0	1	0	23	109					A	89986832	G	A	89986832	3	1	341	1	0	0	0	0	1	0	0	0	6721	1203	42	3	7047	3	GPR98	5	89986832	Missense_Mutation	SNP	G	TCGA-KK-A8ID-01A-11D-A364-08	9177325	89986832	90928428	27	17256											
MCTP1	79772	broad.mit.edu	37	chr5	94046594	94046594	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	acacacagagggctacaatgGccagccagcttaagaatggg	14	5	12	10	0	0	2	0	0	0	2	0	2	0	2	2	3	3	2	2	3	4	2			TCGA-KK-A8ID-01A-11D-A364-08	TCGA-KK-A8ID-11A-12D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	434c8d21-e732-4485-a382-84e8abf8bdb5	686e0817-587f-49c3-b654-8141a09dd79b	g.chr5:94046594G>T	ENST00000515393.1	-	21	2758	c.2759C>A	c.(2758-2760)gCc>gAc	p.A920D	MCTP1_ENST00000505078.1_Missense_Mutation_p.A436D|MCTP1_ENST00000514040.1_5'UTR|MCTP1_ENST00000312216.8_Missense_Mutation_p.A699D|MCTP1_ENST00000429576.2_Missense_Mutation_p.A613D|ANKRD32_ENST00000493934.1_Intron	NM_024717.4	NP_078993.4	Q6DN14	MCTP1_HUMAN	multiple C2 domains, transmembrane 1	920					calcium-mediated signaling (GO:0019722)	integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)			breast(1)|endometrium(3)|large_intestine(13)|liver(2)|lung(13)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1)	41		all_cancers(142;1.68e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0167)|Lung NSC(167;0.0207)|Ovarian(225;0.0218)|Colorectal(57;0.207)		all cancers(79;9.1e-17)		GGCTACAATGGCCAGCCAGCT	0.433																																						ENST00000515393.1																			0				breast(1)|endometrium(3)|large_intestine(13)|liver(2)|lung(13)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1)	41						c.(2758-2760)gCc>gAc		multiple C2 domains, transmembrane 1							94	80	85					5																	94046594		2203	4300	6503	SO:0001583	missense	79772				calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding	g.chr5:94046594G>T		CCDS34203.1, CCDS47247.1, CCDS75275.1	5q15	2008-02-05			ENSG00000175471	ENSG00000175471			26183	protein-coding gene	gene with protein product						15528213	Standard	XM_005272082		Approved	FLJ22344	uc003kkx.2	Q6DN14	OTTHUMG00000162742	ENST00000515393.1:c.2759C>A	5.37:g.94046594G>T	ENSP00000424126:p.Ala920Asp					MCTP1_ENST00000514040.1_5'UTR|ANKRD32_ENST00000493934.1_Intron|MCTP1_ENST00000505078.1_Missense_Mutation_p.A436D|MCTP1_ENST00000429576.2_Missense_Mutation_p.A613D|MCTP1_ENST00000312216.8_Missense_Mutation_p.A699D	p.A920D	NM_024717.4	NP_078993.4	Q6DN14	MCTP1_HUMAN		all cancers(79;9.1e-17)	21	2758	-		all_cancers(142;1.68e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0167)|Lung NSC(167;0.0207)|Ovarian(225;0.0218)|Colorectal(57;0.207)	920					Q6DN13|Q8N2W1|Q8NBA2|Q96LX0|Q9H6E8	Missense_Mutation	SNP	ENST00000515393.1	37	c.2759C>A	CCDS34203.1	.	.	.	.	.	.	.	.	.	.	G	27.8	4.865172	0.91511	.	.	ENSG00000175471	ENST00000515393;ENST00000429576;ENST00000505078;ENST00000312216;ENST00000508509	T;T;T;T;T	0.79554	-1.28;-1.04;-0.23;-1.17;-0.97	5.79	5.79	0.91817	Phosphoribosyltransferase C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.91005	0.7171	M	0.82517	2.595	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.91635	0.999;0.997;0.984	D	0.91227	0.5011	10	0.66056	D	0.02	-12.065	20.0411	0.97590	0.0:0.0:1.0:0.0	.	920;613;699	Q6DN14;Q6DN14-3;Q6DN14-2	MCTP1_HUMAN;.;.	D	920;613;436;699;640	ENSP00000424126:A920D;ENSP00000391639:A613D;ENSP00000426417:A436D;ENSP00000308957:A699D;ENSP00000423410:A640D	ENSP00000308957:A699D	A	-	2	0	MCTP1	94072350	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.632000	0.83247	2.739000	0.93911	0.655000	0.94253	GCC		0.433	MCTP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000370280.3	NM_024717		12	22	1	0	2.27111e-07	1	2.55111e-07	12	22					T	94046594	G	T	94046594	3	4	341	1	0	0	0	0	1	0	0	0	9400	1203	42	5	252	5	MCTP1	5	94046594	Missense_Mutation	SNP	G	TCGA-KK-A8ID-01A-11D-A364-08	4059762	94046594	86868666	28	17257											
TRIM10	10107	broad.mit.edu	37	chr6	30124743	30124743	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catcttcatctccctctgcaGcgggagggcctgctggggaa	6	9	13	13	1	4	0	1	0	3	0	5	2	4	2	2	4	3	2	2	4	1	1			TCGA-KK-A8ID-01A-11D-A364-08	TCGA-KK-A8ID-11A-12D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	434c8d21-e732-4485-a382-84e8abf8bdb5	686e0817-587f-49c3-b654-8141a09dd79b	g.chr6:30124743G>A	ENST00000449742.2	-	5	943	c.868C>T	c.(868-870)Ctg>Ttg	p.L290L	TRIM10_ENST00000376704.3_Silent_p.L290L	NM_006778.3	NP_006769.2	Q9UDY6	TRI10_HUMAN	tripartite motif containing 10	290					erythrocyte differentiation (GO:0030218)|innate immune response (GO:0045087)|negative regulation of viral entry into host cell (GO:0046597)	cytoplasm (GO:0005737)	zinc ion binding (GO:0008270)			ovary(1)	1						TCCCTCTGCAGCGGGAGGGCC	0.612																																						ENST00000449742.2																			0				ovary(1)	1						c.(868-870)Ctg>Ttg		tripartite motif containing 10							61	68	65					6																	30124743		1508	2708	4216	SO:0001819	synonymous_variant	10107					cytoplasm	zinc ion binding	g.chr6:30124743G>A	Y07829	CCDS4676.1, CCDS34375.1	6p21.3	2013-01-09	2011-01-25	2001-11-23	ENSG00000204613	ENSG00000204613		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	10072	protein-coding gene	gene with protein product		605701	"tripartite motif-containing 10"	RNF9		9271628, 10207104	Standard	NM_052828		Approved	RFB30, HERF1	uc003npo.3	Q9UDY6	OTTHUMG00000031295	ENST00000449742.2:c.868C>T	6.37:g.30124743G>A						TRIM10_ENST00000376704.3_Silent_p.L290L	p.L290L	NM_006778.3	NP_006769.2	Q9UDY6	TRI10_HUMAN			5	943	-			290					A6NF84|Q5SRJ5|Q5SRK8|Q86Z08|Q96QB6|Q9C023|Q9C024	Silent	SNP	ENST00000449742.2	37	c.868C>T	CCDS34375.1																																																																																				0.612	TRIM10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076634.1			22	19	0	0	0	1	0	22	19					A	30124743	G	A	30124743	2	1	341	1	0	0	0	0	0	0	0	1	16483	962	34	3		3	TRIM10	6	30124743	Silent	SNP	G	TCGA-KK-A8ID-01A-11D-A364-08		30124743	140990324	29	17258											
NOTCH4	4855	broad.mit.edu	37	chr6	32188854	32188854	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aggagggcagggtcctgcccGcagctcacaacgtggaccct	8	5	14	14	2	1	0	1	0	0	0	2	2	2	2	3	4	3	3	3	4	1	0			TCGA-KK-A8ID-01A-11D-A364-08	TCGA-KK-A8ID-11A-12D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	434c8d21-e732-4485-a382-84e8abf8bdb5	686e0817-587f-49c3-b654-8141a09dd79b	g.chr6:32188854G>A	ENST00000375023.3	-	4	838	c.700C>T	c.(700-702)Cgg>Tgg	p.R234W		NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4	234	EGF-like 6. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cell differentiation (GO:0030154)|cell fate determination (GO:0001709)|embryo development (GO:0009790)|endothelial cell morphogenesis (GO:0001886)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|mammary gland development (GO:0030879)|morphogenesis of a branching structure (GO:0001763)|negative regulation of cell differentiation (GO:0045596)|negative regulation of endothelial cell differentiation (GO:0045602)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|patterning of blood vessels (GO:0001569)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|protein heterodimerization activity (GO:0046982)|receptor activity (GO:0004872)			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						GGTCCTGCCCGCAGCTCACAA	0.652																																						ENST00000375023.3																			0				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						c.(700-702)Cgg>Tgg		notch 4							58	50	53					6																	32188854		1511	2708	4219	SO:0001583	missense	4855				cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity	g.chr6:32188854G>A		CCDS34420.1	6p21.3	2013-01-10	2010-06-24		ENSG00000204301	ENSG00000204301		"Ankyrin repeat domain containing"	7884	protein-coding gene	gene with protein product		164951	"Notch (Drosophila) homolog 4", "Notch homolog 4 (Drosophila)"	INT3		7835890	Standard	NM_004557		Approved		uc003obb.3	Q99466	OTTHUMG00000031044	ENST00000375023.3:c.700C>T	6.37:g.32188854G>A	ENSP00000364163:p.Arg234Trp						p.R234W	NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN			4	838	-			234			EGF-like 6.		B0V183|B0V1X5|O00306|Q5SSY7|Q99458|Q99940|Q9H3S8|Q9UII9|Q9UIJ0	Missense_Mutation	SNP	ENST00000375023.3	37	c.700C>T	CCDS34420.1	.	.	.	.	.	.	.	.	.	.	G	12.62	1.993419	0.35131	.	.	ENSG00000204301	ENST00000375023	T	0.12147	2.71	4.74	-0.949	0.10376	Epidermal growth factor-like, type 3 (1);	1.148280	0.06731	N	0.776695	T	0.10551	0.0258	L	0.46819	1.47	0.09310	N	1	D;D	0.71674	0.997;0.998	D;P	0.63192	0.912;0.72	T	0.12451	-1.0547	10	0.72032	D	0.01	.	3.6314	0.08133	0.2855:0.0:0.42:0.2944	.	234;234	Q6P3V5;Q99466	.;NOTC4_HUMAN	W	234	ENSP00000364163:R234W	ENSP00000364163:R234W	R	-	1	2	NOTCH4	32296832	0.001000	0.12720	0.000000	0.03702	0.303000	0.27691	0.999000	0.29757	-0.421000	0.07416	-0.339000	0.08088	CGG		0.652	NOTCH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076045.2			4	54	0	0	0	1	0	4	54					A	32188854	G	A	32188854	3	1	341	1	0	0	0	0	1	0	0	0	10551	1086	38	1	5419	1	NOTCH4	6	32188854	Missense_Mutation	SNP	G	TCGA-KK-A8ID-01A-11D-A364-08	2064111	32188854	138926213	30	17259											
RPL10A	4736	broad.mit.edu	37	chr6	35438405	35438405	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acgtgaagatgacagacgatGagcttgtgtataacattcac	14	10	10	7	2	1	5	1	3	0	2	1	6	1	5	0	0	2	2	0	0	3	4	rs11553976		TCGA-KK-A8ID-01A-11D-A364-08	TCGA-KK-A8ID-11A-12D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	434c8d21-e732-4485-a382-84e8abf8bdb5	686e0817-587f-49c3-b654-8141a09dd79b	g.chr6:35438405G>A	ENST00000322203.6	+	6	559	c.532G>A	c.(532-534)Gag>Aag	p.E178K	RPL10A_ENST00000467020.1_3'UTR	NM_007104.4	NP_009035.3	P62906	RL10A_HUMAN	ribosomal protein L10a	178					anatomical structure morphogenesis (GO:0009653)|cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			breast(1)|large_intestine(2)|ovary(1)	4						GACAGACGATGAGCTTGTGTA	0.483																																						ENST00000322203.6																			0				breast(1)|large_intestine(2)|ovary(1)	4						c.(532-534)Gag>Aag		ribosomal protein L10a							152	136	141					6																	35438405		2203	4300	6503	SO:0001583	missense	4736				anatomical structure morphogenesis|endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosol|large ribosomal subunit	RNA binding|structural constituent of ribosome	g.chr6:35438405G>A	U12404	CCDS4806.1	6p21.31	2011-04-06			ENSG00000198755	ENSG00000198755		"L ribosomal proteins"	10299	protein-coding gene	gene with protein product		615660		NEDD6		7609734, 9647638	Standard	NM_007104		Approved	Csa-19, L10A	uc003okp.1	P62906	OTTHUMG00000014566	ENST00000322203.6:c.532G>A	6.37:g.35438405G>A	ENSP00000363018:p.Glu178Lys					RPL10A_ENST00000467020.1_3'UTR	p.E178K	NM_007104.4	NP_009035.3	P62906	RL10A_HUMAN			6	559	+			178					B2R801|P52859|P53025|Q5TZT6|Q8J013	Missense_Mutation	SNP	ENST00000322203.6	37	c.532G>A	CCDS4806.1	.	.	.	.	.	.	.	.	.	.	G	25.9	4.687011	0.88639	.	.	ENSG00000198755	ENST00000322203	T	0.45276	0.9	4.67	4.67	0.58626	Ribosomal protein L1, 2-layer alpha/beta-sandwich (1);Ribosomal protein L1, superfamily (1);	0.000000	0.85682	D	0.000000	T	0.40694	0.1127	M	0.76002	2.32	0.80722	D	1	P	0.34522	0.455	B	0.41813	0.367	T	0.45279	-0.9272	10	0.46703	T	0.11	.	16.1695	0.81793	0.0:0.0:1.0:0.0	.	178	P62906	RL10A_HUMAN	K	178	ENSP00000363018:E178K	ENSP00000363018:E178K	E	+	1	0	RPL10A	35546383	1.000000	0.71417	0.994000	0.49952	0.954000	0.61252	9.739000	0.98837	2.139000	0.66308	0.561000	0.74099	GAG		0.483	RPL10A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040283.1	NM_007104		28	39	0	0	0	1	0	28	39					A	35438405	G	A	35438405	3	1	341	1	0	0	0	0	1	0	0	0	13555	1291	45	3	554	3	RPL10A	6	35438405	Missense_Mutation	SNP	G	TCGA-KK-A8ID-01A-11D-A364-08	3249551	35438405	135676662	31	17260											
KIF6	221458	broad.mit.edu	37	chr6	39581087	39581087	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcaggatcctccagtattgTcactttcctaagcaaatggg	11	12	8	10	0	2	0	2	0	0	0	5	1	5	1	3	2	1	2	3	2	3	4			TCGA-KK-A8ID-01A-11D-A364-08	TCGA-KK-A8ID-11A-12D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	434c8d21-e732-4485-a382-84e8abf8bdb5	686e0817-587f-49c3-b654-8141a09dd79b	g.chr6:39581087T>C	ENST00000287152.7	-	6	611	c.517A>G	c.(517-519)Aca>Gca	p.T173A	KIF6_ENST00000373216.3_Missense_Mutation_p.T173A|KIF6_ENST00000538893.1_Missense_Mutation_p.T173A|KIF6_ENST00000373215.3_Missense_Mutation_p.T173A|KIF6_ENST00000373213.4_Missense_Mutation_p.T12A	NM_145027.4	NP_659464.3	Q6ZMV9	KIF6_HUMAN	kinesin family member 6	173	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|male germ cell nucleus (GO:0001673)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(16)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						TCCAGTATTGTCACTTTCCTA	0.398																																						ENST00000287152.7																			0				breast(2)|central_nervous_system(1)|endometrium(1)|kidney(16)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						c.(517-519)Aca>Gca		kinesin family member 6							96	92	93					6																	39581087		2203	4300	6503	SO:0001583	missense	221458				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein binding	g.chr6:39581087T>C	AL832634	CCDS4844.1, CCDS75449.1	6p21.2	2010-03-30			ENSG00000164627	ENSG00000164627		"Kinesins"	21202	protein-coding gene	gene with protein product		613919	"chromosome 6 open reading frame 102"	C6orf102			Standard	NM_145027		Approved	dJ1043E3.1, MGC33317, dJ137F1.4, dJ188D3.1, DKFZp451I2418	uc003oot.2	Q6ZMV9	OTTHUMG00000014648	ENST00000287152.7:c.517A>G	6.37:g.39581087T>C	ENSP00000287152:p.Thr173Ala					KIF6_ENST00000373213.4_Missense_Mutation_p.T12A|KIF6_ENST00000373216.3_Missense_Mutation_p.T173A|KIF6_ENST00000538893.1_Missense_Mutation_p.T173A|KIF6_ENST00000373215.3_Missense_Mutation_p.T173A	p.T173A	NM_145027.4	NP_659464.3	Q6ZMV9	KIF6_HUMAN			6	611	-			173			Kinesin-motor.		Q2MDE3|Q2MDE4|Q5T8J6|Q6ZWE3|Q86T87|Q8WTV4	Missense_Mutation	SNP	ENST00000287152.7	37	c.517A>G	CCDS4844.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	12.93|12.93	2.086570|2.086570	0.36855|0.36855	.|.	.|.	ENSG00000164627|ENSG00000164627	ENST00000287152;ENST00000373216;ENST00000373213;ENST00000373215;ENST00000538893|ENST00000458470	T;T;T;T;T|.	0.74421|.	-0.84;-0.84;-0.84;-0.84;-0.84|.	5.29|5.29	5.29|5.29	0.74685|0.74685	Kinesin, motor domain (4);|.	.|.	.|.	.|.	.|.	T|.	0.32436|.	0.0829|.	N|N	0.12853|0.12853	0.265|0.265	0.80722|0.80722	D|D	1|1	B;B;P|.	0.34724|.	0.281;0.069;0.465|.	B;B;B|.	0.40659|.	0.175;0.062;0.336|.	T|.	0.31110|.	-0.9955|.	9|.	0.24483|.	T|.	0.36|.	.|.	15.2016|15.2016	0.73142|0.73142	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	173;173;173|.	E7EUN7;F6VGH2;Q6ZMV9|.	.;.;KIF6_HUMAN|.	A|W	173;173;12;173;173|64	ENSP00000287152:T173A;ENSP00000362312:T173A;ENSP00000362309:T12A;ENSP00000362311:T173A;ENSP00000441435:T173A|.	ENSP00000287152:T173A|.	T|X	-|-	1|3	0|0	KIF6|KIF6	39689065|39689065	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.990000|0.990000	0.78478|0.78478	3.954000|3.954000	0.56708|0.56708	2.134000|2.134000	0.65973|0.65973	0.528000|0.528000	0.53228|0.53228	ACA|TGA		0.398	KIF6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040455.2	NM_145027		28	66	0	0	0	1	0	28	66					C	39581087	T	C	39581087	3	2	341	1	0	0	0	0	1	0	0	0	8308	1667	58	4	1999	4	KIF6	6	39581087	Missense_Mutation	SNP	T	TCGA-KK-A8ID-01A-11D-A364-08	4142682	39581087	131533980	32	17261											
ORC3L	23595	broad.mit.edu	37	chr6	88375537	88375537	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tctgcaacctcagaagaaatGaatgaaattatccagtatcc	16	10	6	9	0	2	4	1	2	1	2	4	4	4	4	3	0	2	2	3	0	7	2			TCGA-KK-A8ID-01A-11D-A364-08	TCGA-KK-A8ID-11A-12D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	434c8d21-e732-4485-a382-84e8abf8bdb5	686e0817-587f-49c3-b654-8141a09dd79b	g.chr6:88375537G>A	ENST00000392844.3	+	19	2064	c.2016G>A	c.(2014-2016)atG>atA	p.M672I	ORC3_ENST00000546266.1_Missense_Mutation_p.M529I|ORC3_ENST00000257789.4_Missense_Mutation_p.M673I	NM_012381.3|NM_181837.2	NP_036513.2|NP_862820.1	Q9UBD5	ORC3_HUMAN	origin recognition complex, subunit 3	672					DNA replication (GO:0006260)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|neural precursor cell proliferation (GO:0061351)	nuclear origin of replication recognition complex (GO:0005664)|nucleoplasm (GO:0005654)|origin recognition complex (GO:0000808)	DNA replication origin binding (GO:0003688)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	28						CAGAAGAAATGAATGAAATTA	0.308																																						ENST00000392844.3																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	28						c.(2014-2016)atG>atA		origin recognition complex, subunit 3							55	55	55					6																	88375537		2203	4300	6503	SO:0001583	missense	23595				cell cycle checkpoint|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	nuclear origin of replication recognition complex|nucleoplasm	DNA replication origin binding|protein binding	g.chr6:88375537G>A	AF093535	CCDS5012.1, CCDS43486.1, CCDS56440.1	6q	2010-10-12	2010-10-12	2010-10-12	ENSG00000135336	ENSG00000135336			8489	protein-coding gene	gene with protein product		604972	"origin recognition complex, subunit 3 (yeast homolog)-like", "origin recognition complex, subunit 3-like (yeast)", "origin recognition complex, subunit 3 honolog (yeast)"	ORC3L		9829972, 10402192	Standard	NM_181837		Approved	IMAGE50150, LATHEO	uc003pmg.3	Q9UBD5	OTTHUMG00000015179	ENST00000392844.3:c.2016G>A	6.37:g.88375537G>A	ENSP00000376586:p.Met672Ile					ORC3_ENST00000257789.4_Missense_Mutation_p.M673I|ORC3_ENST00000546266.1_Missense_Mutation_p.M529I	p.M672I	NM_012381.3|NM_181837.2	NP_036513.2|NP_862820.1	Q9UBD5	ORC3_HUMAN			19	2064	+			672					A2A2T5|B4E025|Q13565|Q53GY6|Q5T159|Q6IUY7|Q86TN5|Q9UG44|Q9UNT6	Missense_Mutation	SNP	ENST00000392844.3	37	c.2016G>A	CCDS43486.1	.	.	.	.	.	.	.	.	.	.	G	2.029	-0.422802	0.04734	.	.	ENSG00000135336	ENST00000392844;ENST00000257789;ENST00000546266	T;T;T	0.10668	3.21;3.21;2.85	5.85	2.7	0.31948	.	0.397616	0.31542	N	0.007473	T	0.00936	0.0031	N	0.01505	-0.83	0.28131	N	0.930216	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.48570	-0.9024	10	0.20519	T	0.43	-0.0779	6.4302	0.21792	0.2771:0.0:0.5956:0.1273	.	610;672;673	B4E014;Q9UBD5;Q9UBD5-2	.;ORC3_HUMAN;.	I	672;673;529	ENSP00000376586:M672I;ENSP00000257789:M673I;ENSP00000444695:M529I	ENSP00000257789:M673I	M	+	3	0	ORC3	88432256	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	3.018000	0.49625	0.827000	0.34685	0.655000	0.94253	ATG		0.308	ORC3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000041452.2			3	42	0	0	0	1	0	3	42					A	88375537	G	A	88375537	3	1	341	1	0	0	0	0	1	0	0	0	11263	1290	45	3	2093	3	ORC3L	6	88375537	Missense_Mutation	SNP	G	TCGA-KK-A8ID-01A-11D-A364-08	48794450	88375537	82739530	33	17262											
NSUN5	55695	broad.mit.edu	37	chr7	72717396	72717396	+	3'UTR	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctttcccaccaggaaggagtCagcccggagcctctgctatg	8	8	11	14	1	2	0	1	0	1	0	3	3	3	3	4	3	3	1	4	3	2	2	rs529913367	byFrequency	TCGA-KK-A8ID-01A-11D-A364-08	TCGA-KK-A8ID-11A-12D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	434c8d21-e732-4485-a382-84e8abf8bdb5	686e0817-587f-49c3-b654-8141a09dd79b	g.chr7:72717396C>G	ENST00000252594.6	-	0	1502				NSUN5_ENST00000310326.8_Nonstop_Mutation_p.*471S|NSUN5_ENST00000428206.1_3'UTR|NSUN5_ENST00000438747.2_3'UTR			Q96P11	NSUN5_HUMAN	NOP2/Sun domain family, member 5						rRNA processing (GO:0006364)	nucleolus (GO:0005730)|nucleus (GO:0005634)	methyltransferase activity (GO:0008168)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(3)|large_intestine(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	8		Lung NSC(55;0.163)				AGGAAGGAGTCAGCCCGGAGC	0.592													.|||	12	0.00239617	0.0083	0.0014	5008	,	,		17518	0		0	False		,,,				2504	0					ENST00000310326.8																			0				breast(1)|endometrium(3)|large_intestine(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	8						c.(1411-1413)tGa>tCa		NOP2/Sun domain family, member 5							87	93	90					7																	72717396		2203	4300	6503	SO:0001624	3_prime_UTR_variant	55695						methyltransferase activity	g.chr7:72717396C>G	AF420249	CCDS5546.1, CCDS5547.1, CCDS55118.1, CCDS55119.1	7q11.23	2010-04-08	2009-11-23	2005-01-14	ENSG00000130305	ENSG00000130305		"NOP2/Sun domain containing"	16385	protein-coding gene	gene with protein product	"NOP2/Sun domain family, member 5A"	615732	"Williams Beuren syndrome chromosome region 20A", "NOL1/NOP2/Sun domain family, member 5"	WBSCR20, WBSCR20A		11978965, 12073013	Standard	NM_148956		Approved	NOL1R, p120, (NOL1), FLJ10267, NSUN5A, Ynl022cL	uc011kev.2	Q96P11	OTTHUMG00000129869	ENST00000252594.6:c.*197G>C	7.37:g.72717396C>G						NSUN5_ENST00000438747.2_3'UTR|NSUN5_ENST00000252594.6_3'UTR|NSUN5_ENST00000428206.1_3'UTR	p.*471S			Q96P11	NSUN5_HUMAN			10	1437	-		Lung NSC(55;0.163)	0					B3KX04|B4DP79|G3V0G9|Q6ZUI8|Q96HT9|Q9NW70	Nonstop_Mutation	SNP	ENST00000252594.6	37	c.1412G>C	CCDS5547.1	.	.	.	.	.	.	.	.	.	.	.	1.331	-0.596816	0.03771	.	.	ENSG00000130305	ENST00000310326	.	.	.	2.66	0.614	0.17603	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.5183	0.07732	0.0:0.5407:0.2885:0.1708	.	.	.	.	S	471	.	.	X	-	2	2	NSUN5	72355332	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	0.161000	0.16481	0.021000	0.15133	0.436000	0.28706	TGA		0.592	NSUN5-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000252113.1	NM_148956		4	75	0	0	0	1	0	4	75					G	72717396	C	G	72717396	1	3	341	0	1	0	0	0	0	0	0	0	10681	837	29	5		5	NSUN5	7	72717396	3'UTR	SNP	C	TCGA-KK-A8ID-01A-11D-A364-08		72717396	86421267	34	17263											
HIPK2	28996	broad.mit.edu	37	chr7	139416759	139416759	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttcagtttcttcacactacaGaaggcacttgattgaagggt	11	13	9	8	0	3	3	2	2	1	1	3	3	3	3	0	2	1	2	0	2	3	6			TCGA-KK-A8ID-01A-11D-A364-08	TCGA-KK-A8ID-11A-12D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	434c8d21-e732-4485-a382-84e8abf8bdb5	686e0817-587f-49c3-b654-8141a09dd79b	g.chr7:139416759G>A	ENST00000406875.3	-	2	169	c.75C>T	c.(73-75)ttC>ttT	p.F25F	HIPK2_ENST00000428878.2_Silent_p.F25F|HIPK2_ENST00000342645.6_Silent_p.F25F	NM_022740.4	NP_073577.3	Q9H2X6	HIPK2_HUMAN	homeodomain interacting protein kinase 2	25					adult walking behavior (GO:0007628)|anterior/posterior pattern specification (GO:0009952)|cellular response to hypoxia (GO:0071456)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|erythrocyte differentiation (GO:0030218)|eye development (GO:0001654)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|iris morphogenesis (GO:0061072)|lens induction in camera-type eye (GO:0060235)|modulation by virus of host morphology or physiology (GO:0019048)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron differentiation (GO:0030182)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|PML body organization (GO:0030578)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA binding (GO:0043388)|positive regulation of JNK cascade (GO:0046330)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|protein phosphorylation (GO:0006468)|regulation of cell cycle (GO:0051726)|retina layer formation (GO:0010842)|SMAD protein signal transduction (GO:0060395)|smoothened signaling pathway (GO:0007224)|transforming growth factor beta receptor signaling pathway (GO:0007179)|voluntary musculoskeletal movement (GO:0050882)	cytoplasm (GO:0005737)|nuclear body (GO:0016604)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II transcription coactivator activity (GO:0001105)|SMAD binding (GO:0046332)|transcription corepressor activity (GO:0003714)|virion binding (GO:0046790)			breast(4)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Melanoma(164;0.205)					TCACACTACAGAAGGCACTTG	0.483																																						ENST00000406875.3																			0				breast(4)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						c.(73-75)ttC>ttT		homeodomain interacting protein kinase 2							66	62	63					7																	139416759		1568	3582	5150	SO:0001819	synonymous_variant	28996				apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|negative regulation of BMP signaling pathway|positive regulation of JNK cascade|positive regulation of transforming growth factor beta receptor signaling pathway|SMAD protein signal transduction|transcription, DNA-dependent|virus-host interaction	centrosome|nuclear membrane|PML body	ATP binding|protein serine/threonine kinase activity|SMAD binding|transcription corepressor activity|virion binding	g.chr7:139416759G>A	AF208291	CCDS75666.1, CCDS75667.1	7q32-q34	2004-01-29	2001-11-29		ENSG00000064393	ENSG00000064393			14402	protein-coding gene	gene with protein product		606868	"homeodomain-interacting protein kinase 2"			11120354	Standard	NM_001113239		Approved		uc003vvf.4	Q9H2X6	OTTHUMG00000157704	ENST00000406875.3:c.75C>T	7.37:g.139416759G>A						HIPK2_ENST00000428878.2_Silent_p.F25F|HIPK2_ENST00000342645.6_Silent_p.F25F	p.F25F	NM_022740.4	NP_073577.3	Q9H2X6	HIPK2_HUMAN			2	169	-	Melanoma(164;0.205)		25					Q75MR7|Q8WWI4|Q9H2Y1	Silent	SNP	ENST00000406875.3	37	c.75C>T																																																																																					0.483	HIPK2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000349430.3	NM_022740		7	12	0	0	0	1	0	7	12					A	139416759	G	A	139416759	2	1	341	1	0	0	0	0	0	0	0	1	7117	933	33	3		3	HIPK2	7	139416759	Silent	SNP	G	TCGA-KK-A8ID-01A-11D-A364-08	66699363	139416759	19721904	35	17264											
XPO7	23039	broad.mit.edu	37	chr8	21832266	21832266	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	atttgatatcttcacactttCctgcaatttactaaaacagg	13	15	4	9	0	2	1	1	1	1	0	3	1	3	1	1	1	3	1	1	1	5	7			TCGA-KK-A8ID-01A-11D-A364-08	TCGA-KK-A8ID-11A-12D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	434c8d21-e732-4485-a382-84e8abf8bdb5	686e0817-587f-49c3-b654-8141a09dd79b	g.chr8:21832266C>A	ENST00000252512.9	+	6	678	c.578C>A	c.(577-579)tCc>tAc	p.S193Y	XPO7_ENST00000518017.1_3'UTR|XPO7_ENST00000434536.1_Missense_Mutation_p.S202Y|XPO7_ENST00000433566.4_Missense_Mutation_p.S194Y	NM_015024.4	NP_055839.3	Q9UIA9	XPO7_HUMAN	exportin 7	193					mRNA transport (GO:0051028)|protein export from nucleus (GO:0006611)	cytoplasm (GO:0005737)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	nuclear export signal receptor activity (GO:0005049)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(2)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				Colorectal(74;0.0187)|COAD - Colon adenocarcinoma(73;0.0724)		TTCACACTTTCCTGCAATTTA	0.378																																						ENST00000434536.1																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(2)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(604-606)tCc>tAc		exportin 7							118	104	108					8																	21832266		1861	4083	5944	SO:0001583	missense	23039				mRNA transport|protein export from nucleus|transmembrane transport	cytoplasm|nuclear pore	nuclear export signal receptor activity|protein transporter activity	g.chr8:21832266C>A	AF064729	CCDS47818.1	8p21	2011-04-13	2003-03-11	2003-03-14	ENSG00000130227	ENSG00000130227		"Exportins"	14108	protein-coding gene	gene with protein product		606140	"RAN binding protein 16"	RANBP16		11024021, 9872452	Standard	NM_015024		Approved	KIAA0745	uc003xaa.4	Q9UIA9	OTTHUMG00000163789	ENST00000252512.9:c.578C>A	8.37:g.21832266C>A	ENSP00000252512:p.Ser193Tyr					XPO7_ENST00000433566.4_Missense_Mutation_p.S194Y|XPO7_ENST00000518017.1_3'UTR|XPO7_ENST00000252512.9_Missense_Mutation_p.S193Y	p.S202Y			Q9UIA9	XPO7_HUMAN		Colorectal(74;0.0187)|COAD - Colon adenocarcinoma(73;0.0724)	6	707	+			193					O94846|Q6PJK9|Q8NEK7	Missense_Mutation	SNP	ENST00000252512.9	37	c.605C>A	CCDS47818.1	.	.	.	.	.	.	.	.	.	.	C	27.6	4.847583	0.91277	.	.	ENSG00000130227	ENST00000434536;ENST00000252512;ENST00000433566	T;T;T	0.66815	-0.23;-0.23;-0.23	5.89	5.89	0.94794	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.84088	0.5395	M	0.85859	2.78	0.80722	D	1	D;D;D	0.76494	0.999;0.996;0.996	D;D;D	0.67231	0.95;0.91;0.91	D	0.85628	0.1268	10	0.87932	D	0	-14.0051	19.8616	0.96786	0.0:1.0:0.0:0.0	.	194;202;193	E7ESC6;E9PEN8;Q9UIA9	.;.;XPO7_HUMAN	Y	202;193;194	ENSP00000404853:S202Y;ENSP00000252512:S193Y;ENSP00000410249:S194Y	ENSP00000252512:S193Y	S	+	2	0	XPO7	21888212	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.772000	0.85439	2.796000	0.96246	0.650000	0.86243	TCC		0.378	XPO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375494.1	NM_015024		3	5	1	0	0.150653	1	0.150653	3	5					A	21832266	C	A	21832266	3	1	341	1	0	0	0	0	1	0	0	0	17446	855	30	5	652	5	XPO7	8	21832266	Missense_Mutation	SNP	C	TCGA-KK-A8ID-01A-11D-A364-08		21832266	124531756	36	17265											
SNTG1	54212	broad.mit.edu	37	chr8	51314884	51314884	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aggatgtgatatgtgtgtctGgtgagcctttctattctggt	6	17	13	5	0	3	2	0	2	3	0	3	3	3	3	1	3	1	0	1	3	2	4			TCGA-KK-A8ID-01A-11D-A364-08	TCGA-KK-A8ID-11A-12D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	434c8d21-e732-4485-a382-84e8abf8bdb5	686e0817-587f-49c3-b654-8141a09dd79b	g.chr8:51314884G>A	ENST00000522124.1	+	4	803	c.142G>A	c.(142-144)Ggt>Agt	p.G48S	SNTG1_ENST00000276467.5_Missense_Mutation_p.G48S|SNTG1_ENST00000517473.1_Missense_Mutation_p.G48S|SNTG1_ENST00000518864.1_Missense_Mutation_p.G48S	NM_018967.2	NP_061840.1	Q9NSN8	SNTG1_HUMAN	syntrophin, gamma 1	48					cell communication (GO:0007154)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|ruffle membrane (GO:0032587)|syntrophin complex (GO:0016013)	protein C-terminus binding (GO:0008022)			NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(36)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	66		all_cancers(86;0.00754)|all_epithelial(80;9.76e-05)|Lung NSC(129;0.000865)|all_lung(136;0.00249)|Colorectal(162;0.22)				ATGTGTGTCTGGTGAGCCTTT	0.378																																						ENST00000522124.1																			0				NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(36)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	66						c.(142-144)Ggt>Agt		syntrophin, gamma 1							250	245	247					8																	51314884		2203	4300	6503	SO:0001583	missense	54212				cell communication	cytoplasm|cytoskeleton|nucleus|ruffle membrane|syntrophin complex	actin binding|protein C-terminus binding	g.chr8:51314884G>A	AJ003030	CCDS6147.1, CCDS75737.1	8q11-q12	2008-07-03				ENSG00000147481			13740	protein-coding gene	gene with protein product		608714				10747910	Standard	NM_018967		Approved	SYN4, G1SYN	uc003xqs.1	Q9NSN8		ENST00000522124.1:c.142G>A	8.37:g.51314884G>A	ENSP00000429842:p.Gly48Ser					SNTG1_ENST00000518864.1_Missense_Mutation_p.G48S|SNTG1_ENST00000517473.1_Missense_Mutation_p.G48S|SNTG1_ENST00000276467.5_Missense_Mutation_p.G48S	p.G48S	NM_018967.2	NP_061840.1	Q9NSN8	SNTG1_HUMAN			4	803	+		all_cancers(86;0.00754)|all_epithelial(80;9.76e-05)|Lung NSC(129;0.000865)|all_lung(136;0.00249)|Colorectal(162;0.22)	48					Q2M3Q0|Q9NY98	Missense_Mutation	SNP	ENST00000522124.1	37	c.142G>A	CCDS6147.1	.	.	.	.	.	.	.	.	.	.	G	26.3	4.728722	0.89390	.	.	ENSG00000147481	ENST00000518864;ENST00000522124;ENST00000517473;ENST00000523085;ENST00000276467	T;T;T;T;T	0.37584	1.19;1.19;1.19;1.19;1.19	4.96	4.96	0.65561	PDZ/DHR/GLGF (1);	0.000000	0.85682	D	0.000000	T	0.58481	0.2125	M	0.74881	2.28	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.991	T	0.55224	-0.8174	10	0.14656	T	0.56	.	17.204	0.86913	0.0:0.0:1.0:0.0	.	48;48	Q9NSN8-2;Q9NSN8	.;SNTG1_HUMAN	S	48	ENSP00000429276:G48S;ENSP00000429842:G48S;ENSP00000431123:G48S;ENSP00000429363:G48S;ENSP00000276467:G48S	ENSP00000276467:G48S	G	+	1	0	SNTG1	51477437	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.701000	0.91331	2.314000	0.78098	0.655000	0.94253	GGT		0.378	SNTG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377964.1			57	89	0	0	0	1	0	57	89					A	51314884	G	A	51314884	3	1	341	1	0	0	0	0	1	0	0	0	14874	1348	47	3	148	3	SNTG1	8	51314884	Missense_Mutation	SNP	G	TCGA-KK-A8ID-01A-11D-A364-08	29482618	51314884	95049138	37	17266											
ARFGEF1	10565	broad.mit.edu	37	chr8	68255450	68255453	+	Frame_Shift_Del	DEL	CTTC	CTTC	-																															ggagtgatgcgccttcttcaCttccttgtcggccaatatct																										TCGA-KK-A8ID-01A-11D-A364-08	TCGA-KK-A8ID-11A-12D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	434c8d21-e732-4485-a382-84e8abf8bdb5	686e0817-587f-49c3-b654-8141a09dd79b	g.chr8:68255450_68255453delCTTC	ENST00000262215.3	-	1	459_462	c.70_73delGAAG	c.(70-75)gaagtgfs	p.EV24fs	RP11-7F18.2_ENST00000607397.1_lincRNA	NM_006421.4	NP_006412.2	Q9Y6D6	BIG1_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited)	24	DCB; DCB:DCB domain and DCB:HUS domain interaction.				endomembrane system organization (GO:0010256)|exocytosis (GO:0006887)|Golgi organization (GO:0007030)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of Rho GTPase activity (GO:0034259)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein glycosylation in Golgi (GO:0090284)|positive regulation of wound healing (GO:0090303)|protein transport (GO:0015031)|regulation of ARF protein signal transduction (GO:0032012)|regulation of establishment of cell polarity (GO:2000114)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|small nuclear ribonucleoprotein complex (GO:0030532)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|guanyl-nucleotide exchange factor activity (GO:0005085)|myosin binding (GO:0017022)|protein kinase A regulatory subunit binding (GO:0034237)			breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)			GCCTTCTTCACTTCCTTGTCGGCC	0.623																																						ENST00000262215.3																			0				breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	65						c.(70-75)tgfs		ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited)																																				SO:0001589	frameshift_variant	10565				exocytosis|regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity|myosin binding	g.chr8:68255450_68255453delCTTC	AF084520	CCDS6199.1	8q13	2011-08-18	2011-08-18		ENSG00000066777	ENSG00000066777			15772	protein-coding gene	gene with protein product		604141				10212200, 8917509	Standard	NM_006421		Approved	DKFZP434L057, BIG1, ARFGEP1, p200	uc003xxo.2	Q9Y6D6	OTTHUMG00000164626	ENST00000262215.3:c.70_73delGAAG	8.37:g.68255450_68255453delCTTC	ENSP00000262215:p.Glu24fs						p.EV24fs	NM_006421.4	NP_006412.2	Q9Y6D6	BIG1_HUMAN	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)		1	459_462	-	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	24					Q9NV46|Q9UFV2|Q9UNL0	Frame_Shift_Del	DEL	ENST00000262215.3	37	c.70_73delGAAG	CCDS6199.1																																																																																				0.623	ARFGEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379441.4	NM_006421		35	44						35	44	---	---	---	---	-	68255453	CTTC	-	68255450	7	5	341	1	0	1	0	1	0	0	0	0	852	565	20	0	5632	0	ARFGEF1	8	68255450	Frame_Shift_Del	DEL	CTTC	TCGA-KK-A8ID-01A-11D-A364-08	16940566	68255450	78108572	38	17267											
EXT1	2131	broad.mit.edu	37	chr8	118847769	118847781	+	Frame_Shift_Del	DEL	GCATCACAGGGAC	GCATCACAGGGAC	-																															caactcccatccattgctgaGcatcacagggacgcaggcag																								rs61753260|rs549241569		TCGA-KK-A8ID-01A-11D-A364-08	TCGA-KK-A8ID-11A-12D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	434c8d21-e732-4485-a382-84e8abf8bdb5	686e0817-587f-49c3-b654-8141a09dd79b	g.chr8:118847769_118847781delGCATCACAGGGAC	ENST00000378204.2	-	3	1872_1884	c.1066_1078delGTCCCTGTGATGC	c.(1066-1080)gtccctgtgatgctcfs	p.VPVML356fs		NM_000127.2	NP_000118.2	Q16394	EXT1_HUMAN	exostosin glycosyltransferase 1	356					axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|cellular polysaccharide biosynthetic process (GO:0033692)|embryonic skeletal joint development (GO:0072498)|endoderm development (GO:0007492)|gastrulation (GO:0007369)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process (GO:0015014)|mesoderm development (GO:0007498)|olfactory bulb development (GO:0021772)|ossification (GO:0001503)|protein glycosylation (GO:0006486)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)	acetylglucosaminyltransferase activity (GO:0008375)|glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity (GO:0050508)|glucuronosyltransferase activity (GO:0015020)|heparan sulfate N-acetylglucosaminyltransferase activity (GO:0042328)|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity (GO:0050509)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|transferase activity, transferring glycosyl groups (GO:0016757)			breast(1)|endometrium(7)|kidney(1)|large_intestine(12)|lung(10)|ovary(3)|prostate(1)|stomach(1)|urinary_tract(2)	38	all_cancers(13;2.36e-26)|Lung NSC(37;5.02e-07)|Ovarian(258;0.0173)		STAD - Stomach adenocarcinoma(47;0.012)			CCATTGCTGAGCATCACAGGGACGCAGGCAGCC	0.479			"Mis, N, F, S"			"exostoses, osteosarcoma"			Langer-Giedion syndrome;Hereditary Multiple Exostoses																													ENST00000378204.2			yes	Rec		Multiple Exostoses Type 1	8	8q24.11-q24.13	2131	"Mis, N, F, S"	multiple exostoses type 1 gene			M		"exostoses, osteosarcoma"			0				breast(1)|endometrium(7)|kidney(1)|large_intestine(12)|lung(10)|ovary(3)|prostate(1)|stomach(1)|urinary_tract(2)	38						c.(1066-1080)tcfs		exostosin glycosyltransferase 1																																				SO:0001589	frameshift_variant	2131	Langer-Giedion syndrome;Hereditary Multiple Exostoses	Familial Cancer Database	Trichorhinophalangeal syndrome type 2, TRPS II;HME, Hereditary Exostoses, Multiple Osteochondromatosis, Multiple Cartilaginous Exostoses	glycosaminoglycan biosynthetic process|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|ossification|signal transduction|skeletal system development	Golgi membrane|integral to endoplasmic reticulum membrane	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|heparan sulfate N-acetylglucosaminyltransferase activity|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity	g.chr8:118847769_118847781delGCATCACAGGGAC	S79639	CCDS6324.1	8q24.11	2014-09-17	2013-03-01		ENSG00000182197	ENSG00000182197	2.4.1.224, 2.4.1.225	"Exostosin glycosyltransferase family"	3512	protein-coding gene	gene with protein product	"Glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N- acetylglucosaminyltransferase", "N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase"	608177	"Langer-Giedion syndrome chromosome region", "exostoses (multiple) 1", "exostosin 1"	LGCR, LGS			Standard	NM_000127		Approved	ttv	uc003yok.1	Q16394	OTTHUMG00000059718	ENST00000378204.2:c.1066_1078delGTCCCTGTGATGC	8.37:g.118847769_118847781delGCATCACAGGGAC	ENSP00000367446:p.Val356fs						p.VPVML356fs	NM_000127.2	NP_000118.2	Q16394	EXT1_HUMAN	STAD - Stomach adenocarcinoma(47;0.012)		3	1872_1884	-	all_cancers(13;2.36e-26)|Lung NSC(37;5.02e-07)|Ovarian(258;0.0173)		356					B2R7V2|Q9BVI9	Frame_Shift_Del	DEL	ENST00000378204.2	37	c.1066_1078delGTCCCTGTGATGC	CCDS6324.1																																																																																				0.479	EXT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132768.3	NM_000127		7	33						7	33	---	---	---	---	-	118847781	GCATCACAGGGAC	-	118847769	7	5	341	1	0	1	0	1	0	0	0	0	5323	971	34	0	1198	0	EXT1	8	118847769	Frame_Shift_Del	DEL	GCATCACAGGGAC	TCGA-KK-A8ID-01A-11D-A364-08	50592319	118847769	27516253	39	17268											
FAM122A	116224	broad.mit.edu	37	chr9	71395528	71395528	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	caccagcaccgtcacccactCggggaattgggaagcagtgt	10	6	12	13	2	1	0	1	0	0	0	2	2	1	2	3	3	2	2	3	3	2	1	rs146421193		TCGA-KK-A8ID-01A-11D-A364-08	TCGA-KK-A8ID-11A-12D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	434c8d21-e732-4485-a382-84e8abf8bdb5	686e0817-587f-49c3-b654-8141a09dd79b	g.chr9:71395528C>G	ENST00000394264.3	+	1	565	c.448C>G	c.(448-450)Cgg>Ggg	p.R150G	PIP5K1B_ENST00000265382.3_Intron|PIP5K1B_ENST00000541509.1_Intron	NM_138333.3	NP_612206.3	Q96E09	F122A_HUMAN	family with sequence similarity 122A	150										endometrium(1)|lung(2)	3						GTCACCCACTCGGGGAATTGG	0.532																																						ENST00000394264.3																			0				endometrium(1)|lung(2)	3						c.(448-450)Cgg>Ggg		family with sequence similarity 122A							115	108	111					9																	71395528		2203	4300	6503	SO:0001583	missense	116224							g.chr9:71395528C>G	AK126379	CCDS6623.1	9q21.13	2011-02-10	2006-07-11	2006-07-11	ENSG00000187866	ENSG00000187866			23490	protein-coding gene	gene with protein product			"chromosome 9 open reading frame 42"	C9orf42		12477932	Standard	NM_138333		Approved	MGC17347	uc004agw.1	Q96E09	OTTHUMG00000019971	ENST00000394264.3:c.448C>G	9.37:g.71395528C>G	ENSP00000377807:p.Arg150Gly					PIP5K1B_ENST00000541509.1_Intron|PIP5K1B_ENST00000265382.3_Intron	p.R150G	NM_138333.3	NP_612206.3	Q96E09	F122A_HUMAN			1	565	+			150						Missense_Mutation	SNP	ENST00000394264.3	37	c.448C>G	CCDS6623.1	.	.	.	.	.	.	.	.	.	.	C	15.16	2.750812	0.49257	.	.	ENSG00000187866	ENST00000394264;ENST00000377279	.	.	.	4.42	3.52	0.40303	.	0.000000	0.85682	D	0.000000	T	0.72661	0.3488	M	0.79805	2.47	0.36104	D	0.844311	D	0.67145	0.996	D	0.76575	0.988	T	0.78339	-0.2242	9	0.49607	T	0.09	-33.3491	8.671	0.34149	0.0:0.8978:0.0:0.1022	.	150	Q96E09	F122A_HUMAN	G	150;134	.	ENSP00000366492:R134G	R	+	1	2	FAM122A	70585348	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.371000	0.59523	1.470000	0.48102	0.563000	0.77884	CGG		0.532	FAM122A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052556.1	NM_138333		39	32	0	0	0	1	0	39	32					G	71395528	C	G	71395528	3	3	341	1	0	0	0	0	1	0	0	0	5419	875	31	5	450	5	FAM122A	9	71395528	Missense_Mutation	SNP	C	TCGA-KK-A8ID-01A-11D-A364-08		71395528	69817903	40	17269											
PPAPDC3	84814	broad.mit.edu	37	chr9	134165681	134165681	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tccaagcggctgggggtgtgCgctggccgggcggcgtcctg	2	7	20	12	5	0	0	0	0	0	0	2	0	2	0	3	6	2	2	3	6	1	0			TCGA-KK-A8ID-01A-11D-A364-08	TCGA-KK-A8ID-11A-12D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	434c8d21-e732-4485-a382-84e8abf8bdb5	686e0817-587f-49c3-b654-8141a09dd79b	g.chr9:134165681C>T	ENST00000372264.3	+	1	601	c.297C>T	c.(295-297)tgC>tgT	p.C99C	PPAPDC3_ENST00000372261.1_Silent_p.C99C	NM_032728.3	NP_116117.3	Q8NBV4	PPAC3_HUMAN	phosphatidic acid phosphatase type 2 domain containing 3	99					negative regulation of myotube differentiation (GO:0010832)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)	hydrolase activity (GO:0016787)			breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(9)|skin(1)	16	all_hematologic(7;0.0119)			OV - Ovarian serous cystadenocarcinoma(145;1.22e-05)|Epithelial(140;0.000173)		TGGGGGTGTGCGCTGGCCGGG	0.652																																						ENST00000372264.3																			0				breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(9)|skin(1)	16						c.(295-297)tgC>tgT		phosphatidic acid phosphatase type 2 domain containing 3							66	67	66					9																	134165681		2203	4300	6503	SO:0001819	synonymous_variant	84814					endoplasmic reticulum membrane|integral to membrane|nuclear envelope	hydrolase activity	g.chr9:134165681C>T	AK027568	CCDS6942.1	9q34.2-q34.3	2008-02-26	2005-07-15	2005-07-15	ENSG00000160539	ENSG00000160539			28174	protein-coding gene	gene with protein product			"chromosome 9 open reading frame 67"	C9orf67		12958361	Standard	NM_032728		Approved	MGC12921, FLJ14662, NET39	uc004cal.2	Q8NBV4	OTTHUMG00000020822	ENST00000372264.3:c.297C>T	9.37:g.134165681C>T						PPAPDC3_ENST00000372261.1_Silent_p.C99C	p.C99C	NM_032728.3	NP_116117.3	Q8NBV4	PPAC3_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.22e-05)|Epithelial(140;0.000173)	1	601	+	all_hematologic(7;0.0119)		99					Q5T6P0|Q96SS7|Q9BRC3	Silent	SNP	ENST00000372264.3	37	c.297C>T	CCDS6942.1																																																																																				0.652	PPAPDC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054724.1	NM_032728		45	54	0	0	0	1	0	45	54					T	134165681	C	T	134165681	2	4	341	1	0	0	0	0	0	0	0	1	12296	776	27	1		1	PPAPDC3	9	134165681	Silent	SNP	C	TCGA-KK-A8ID-01A-11D-A364-08	62770153	134165681	7047750	41	17270											
GAD2	2572	broad.mit.edu	37	chr10	26581461	26581462	+	Frame_Shift_Ins	INS	-	-	A																															gagtatttatacaacatcatINSaaaaaaccgagaaggatatg																										TCGA-KK-A8ID-01A-11D-A364-08	TCGA-KK-A8ID-11A-12D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	434c8d21-e732-4485-a382-84e8abf8bdb5	686e0817-587f-49c3-b654-8141a09dd79b	g.chr10:26581461_26581462insA	ENST00000376261.3	+	14	1957_1958	c.1454_1455insA	c.(1453-1458)ataaaafs	p.IK485fs	GAD2_ENST00000259271.3_Frame_Shift_Ins_p.IK485fs	NM_001134366.1	NP_001127838.1	Q05329	DCE2_HUMAN	glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa)	485					glutamate decarboxylation to succinate (GO:0006540)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter secretion (GO:0007269)|response to drug (GO:0042493)|synaptic transmission (GO:0007268)	anchored component of membrane (GO:0031225)|axon (GO:0030424)|cell junction (GO:0030054)|clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane (GO:0061202)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|synaptic vesicle membrane (GO:0030672)	glutamate binding (GO:0016595)|glutamate decarboxylase activity (GO:0004351)|pyridoxal phosphate binding (GO:0030170)			central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(26)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						TACAACATCATAAAAAACCGAG	0.396																																						ENST00000376261.3																			0				central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(26)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						c.(1453-1455)aaafs		glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa)	L-Glutamic Acid(DB00142)																																			SO:0001589	frameshift_variant	2572				glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion	cell junction|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|Golgi membrane|presynaptic membrane	glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding	g.chr10:26581461_26581462insA	AJ251501	CCDS7149.1	10p13-p11.2	2003-11-11	2002-08-29		ENSG00000136750	ENSG00000136750	4.1.1.15		4093	protein-coding gene	gene with protein product		138275	"glutamate decarboxylase 2 (pancreatic islets and brain, 65kD)"			2039509	Standard	NM_000818		Approved	GAD65	uc001isp.2	Q05329	OTTHUMG00000017836	ENST00000376261.3:c.1460dupA	10.37:g.26581467_26581467dupA	ENSP00000365437:p.Ile485fs					GAD2_ENST00000259271.3_Frame_Shift_Ins_p.K485fs	p.K485fs	NM_001134366.1	NP_001127838.1	Q05329	DCE2_HUMAN			14	1957_1958	+			485					Q9UD87	Frame_Shift_Ins	INS	ENST00000376261.3	37	c.1454_1455insA	CCDS7149.1																																																																																				0.396	GAD2-001	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047255.1	NM_000818		12	111						12	111	---	---	---	---	A	26581462	-	A	26581461	7	5	341	1	0	1	1	0	0	0	0	0	6180	1406	49	0	1508	0	GAD2	10	26581461	Frame_Shift_Ins	INS	-	TCGA-KK-A8ID-01A-11D-A364-08		26581461	108953286	42	17271											
BDNF	627	broad.mit.edu	37	chr11	27680000	27680000	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctccagagtcccatgggtccGcacacctgggtaggccaagc	8	6	12	15	1	0	1	0	0	0	1	3	1	3	1	5	3	1	2	5	3	2	1			TCGA-KK-A8ID-01A-11D-A364-08	TCGA-KK-A8ID-11A-12D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	434c8d21-e732-4485-a382-84e8abf8bdb5	686e0817-587f-49c3-b654-8141a09dd79b	g.chr11:27680000G>A	ENST00000525528.1	-	1	1205	c.112C>T	c.(112-114)Cgg>Tgg	p.R38W	BDNF_ENST00000395981.3_Missense_Mutation_p.R38W|BDNF_ENST00000438929.1_Missense_Mutation_p.R120W|BDNF_ENST00000533131.1_Missense_Mutation_p.R38W|BDNF-AS_ENST00000501176.2_RNA|BDNF_ENST00000395980.2_Missense_Mutation_p.R38W|BDNF_ENST00000525950.1_Missense_Mutation_p.R38W|BDNF_ENST00000420794.1_Missense_Mutation_p.R38W|BDNF-AS_ENST00000502161.2_RNA|BDNF_ENST00000314915.6_Missense_Mutation_p.R46W|BDNF-AS_ENST00000532965.1_RNA|BDNF_ENST00000439476.2_Missense_Mutation_p.R38W|BDNF_ENST00000356660.4_Missense_Mutation_p.R38W|BDNF_ENST00000533246.1_Missense_Mutation_p.R38W|BDNF-AS_ENST00000530686.1_RNA|BDNF_ENST00000584049.1_5'UTR|BDNF-AS_ENST00000500662.2_RNA|BDNF-AS_ENST00000499008.3_RNA|BDNF_ENST00000395986.2_Missense_Mutation_p.R53W|BDNF_ENST00000395983.3_Missense_Mutation_p.R38W|BDNF_ENST00000395978.3_Missense_Mutation_p.R38W|BDNF_ENST00000418212.1_Missense_Mutation_p.R38W|BDNF-AS_ENST00000530313.1_RNA|BDNF_ENST00000532997.1_Missense_Mutation_p.R38W|BDNF_ENST00000530861.1_Missense_Mutation_p.R38W|BDNF-AS_ENST00000499568.2_RNA	NM_170735.5	NP_733931.1	P23560	BDNF_HUMAN	brain-derived neurotrophic factor	38					axon extension (GO:0048675)|axon guidance (GO:0007411)|axon target recognition (GO:0007412)|behavioral fear response (GO:0001662)|chronic inflammatory response (GO:0002544)|circadian rhythm (GO:0007623)|dendrite development (GO:0016358)|dendrite extension (GO:0097484)|feeding behavior (GO:0007631)|gamma-aminobutyric acid signaling pathway (GO:0007214)|glutamate secretion (GO:0014047)|inner ear development (GO:0048839)|learning or memory (GO:0007611)|mechanoreceptor differentiation (GO:0042490)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of striated muscle tissue development (GO:0045843)|negative regulation of synaptic transmission, GABAergic (GO:0032229)|nerve development (GO:0021675)|nervous system development (GO:0007399)|neuron recognition (GO:0008038)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of synapse assembly (GO:0051965)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of retinal cell programmed cell death (GO:0046668)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|response to anesthetic (GO:0072347)|response to fluoxetine (GO:0014076)|response to hormone (GO:0009725)|response to hyperoxia (GO:0055093)|response to hypoxia (GO:0001666)|response to vitamin A (GO:0033189)|taste bud development (GO:0061193)|ureteric bud development (GO:0001657)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|perinuclear region of cytoplasm (GO:0048471)|synaptic vesicle (GO:0008021)	growth factor activity (GO:0008083)			breast(1)|large_intestine(3)|lung(2)	6						CCATGGGTCCGCACACCTGGG	0.507																																						ENST00000525528.1																			0				breast(1)|large_intestine(3)|lung(2)	6						c.(112-114)Cgg>Tgg		brain-derived neurotrophic factor							124	128	127					11																	27680000		2202	4299	6501	SO:0001583	missense	627					extracellular region	growth factor activity	g.chr11:27680000G>A	AB038670	CCDS7865.1, CCDS7866.1, CCDS44558.1, CCDS41628.1	11p14.1	2014-01-30			ENSG00000176697	ENSG00000176697		"Endogenous ligands"	1033	protein-coding gene	gene with protein product	"neurotrophin"	113505				2236018, 1889806, 17942328, 17493809	Standard	NM_170731		Approved		uc009yje.3	P23560	OTTHUMG00000178797	ENST00000525528.1:c.112C>T	11.37:g.27680000G>A	ENSP00000437138:p.Arg38Trp					BDNF_ENST00000420794.1_Missense_Mutation_p.R38W|BDNF-AS_ENST00000502161.2_RNA|BDNF_ENST00000418212.1_Missense_Mutation_p.R38W|BDNF_ENST00000584049.1_5'UTR|BDNF_ENST00000438929.1_Missense_Mutation_p.R120W|BDNF-AS_ENST00000499008.3_RNA|BDNF-AS_ENST00000530686.1_RNA|BDNF_ENST00000525950.1_Missense_Mutation_p.R38W|BDNF_ENST00000395978.3_Missense_Mutation_p.R38W|BDNF_ENST00000395983.3_Missense_Mutation_p.R38W|BDNF_ENST00000395980.2_Missense_Mutation_p.R38W|BDNF-AS_ENST00000500662.2_RNA|BDNF_ENST00000533246.1_Missense_Mutation_p.R38W|BDNF_ENST00000395986.2_Missense_Mutation_p.R53W|BDNF-AS_ENST00000501176.2_RNA|BDNF_ENST00000530861.1_Missense_Mutation_p.R38W|BDNF_ENST00000533131.1_Missense_Mutation_p.R38W|BDNF_ENST00000395981.3_Missense_Mutation_p.R38W|BDNF_ENST00000314915.6_Missense_Mutation_p.R46W|BDNF-AS_ENST00000499568.2_RNA|BDNF_ENST00000439476.2_Missense_Mutation_p.R38W|BDNF_ENST00000532997.1_Missense_Mutation_p.R38W|BDNF_ENST00000356660.4_Missense_Mutation_p.R38W|BDNF-AS_ENST00000530313.1_RNA	p.R38W	NM_170735.5	NP_733931.1	P23560	BDNF_HUMAN			1	1205	-			38					A7LA85|A7LA92|D3DQZ2|Q598Q1|Q6DN19|Q6YNR2|Q6YNR3|Q9BYY7|Q9UC24	Missense_Mutation	SNP	ENST00000525528.1	37	c.112C>T	CCDS7866.1	.	.	.	.	.	.	.	.	.	.	G	16.85	3.236059	0.58886	.	.	ENSG00000176697	ENST00000439476;ENST00000525528;ENST00000395986;ENST00000533131;ENST00000356660;ENST00000418212;ENST00000533246;ENST00000530861;ENST00000395983;ENST00000438929;ENST00000395980;ENST00000532997;ENST00000395981;ENST00000395978;ENST00000525950;ENST00000314915;ENST00000420794;ENST00000528035	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.56275	0.47;0.47;0.47;0.47;0.47;0.47;0.47;0.47;0.47;0.47;0.47;0.47;0.47;0.47;0.47;0.47;0.47	6.16	6.16	0.99307	.	0.131721	0.50627	D	0.000103	T	0.74520	0.3727	M	0.72894	2.215	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.999;0.992;0.992;0.982;0.992	T	0.74210	-0.3739	10	0.87932	D	0	-31.2911	20.8598	0.99761	0.0:0.0:1.0:0.0	.	67;120;46;38;53	P23560-5;P23560-4;P23560-2;P23560;P23560-3	.;.;.;BDNF_HUMAN;.	W	38;38;53;38;38;38;38;38;38;120;38;38;38;38;38;46;38;38	ENSP00000389345:R38W;ENSP00000437138:R38W;ENSP00000379309:R53W;ENSP00000432727:R38W;ENSP00000349084:R38W;ENSP00000400502:R38W;ENSP00000432376:R38W;ENSP00000435564:R38W;ENSP00000379307:R38W;ENSP00000414303:R120W;ENSP00000379304:R38W;ENSP00000435805:R38W;ENSP00000379305:R38W;ENSP00000379302:R38W;ENSP00000432035:R38W;ENSP00000320002:R46W;ENSP00000389564:R38W	ENSP00000320002:R46W	R	-	1	2	BDNF	27636576	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.567000	0.98161	2.937000	0.99478	0.650000	0.86243	CGG		0.507	BDNF-016	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388135.1	NM_170735		4	104	0	0	0	1	0	4	104					A	27680000	G	A	27680000	3	1	341	1	0	0	0	0	1	0	0	0	1394	1086	38	1	635	1	BDNF	11	27680000	Missense_Mutation	SNP	G	TCGA-KK-A8ID-01A-11D-A364-08		27680000	107326516	43	17272											
NXF1	10482	broad.mit.edu	37	chr11	62569242	62569242	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctacttgttctggcttcagtTcattcagtatagtgtggggt	6	17	11	7	0	4	0	3	0	1	0	4	0	4	0	0	3	1	4	0	3	3	8			TCGA-KK-A8ID-01A-11D-A364-08	TCGA-KK-A8ID-11A-12D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	434c8d21-e732-4485-a382-84e8abf8bdb5	686e0817-587f-49c3-b654-8141a09dd79b	g.chr11:62569242T>A	ENST00000532297.1	-	7	1237	c.608A>T	c.(607-609)gAa>gTa	p.E203V	NXF1_ENST00000294172.2_Missense_Mutation_p.E203V|NXF1_ENST00000531709.2_Missense_Mutation_p.E203V|NXF1_ENST00000531131.1_Missense_Mutation_p.E66V|NXF1_ENST00000439713.2_Missense_Mutation_p.E203V			Q9UBU9	NXF1_HUMAN	nuclear RNA export factor 1	203					gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|poly(A)+ mRNA export from nucleus (GO:0016973)|viral process (GO:0016032)	cytosol (GO:0005829)|nuclear inclusion body (GO:0042405)|nuclear pore (GO:0005643)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)	mRNA binding (GO:0003729)|nucleocytoplasmic transporter activity (GO:0005487)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(9)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TGGCTTCAGTTCATTCAGTAT	0.488																																						ENST00000531709.2																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(9)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						c.(607-609)gAa>gTa		nuclear RNA export factor 1							193	190	191					11																	62569242		2201	4299	6500	SO:0001583	missense	10482				gene expression|interspecies interaction between organisms	cytosol|nuclear speck	nucleotide binding|protein binding	g.chr11:62569242T>A	AF112880	CCDS8037.1, CCDS44629.1	11q12-q13	2008-07-21			ENSG00000162231	ENSG00000162231			8071	protein-coding gene	gene with protein product	"tip associating protein"	602647				9175835, 9660949	Standard	NM_001081491		Approved	TAP, Mex67, DKFZp667O0311	uc001nvf.1	Q9UBU9	OTTHUMG00000167612	ENST00000532297.1:c.608A>T	11.37:g.62569242T>A	ENSP00000436679:p.Glu203Val					NXF1_ENST00000294172.2_Missense_Mutation_p.E203V|NXF1_ENST00000439713.2_Missense_Mutation_p.E203V|NXF1_ENST00000532297.1_Missense_Mutation_p.E203V|NXF1_ENST00000531131.1_5'UTR	p.E203V	NM_001081491.1	NP_001074960.1	Q9UBU9	NXF1_HUMAN			6	721	-			203			Interaction with THOC4.		B4E269|Q99799|Q9UQL2	Missense_Mutation	SNP	ENST00000532297.1	37	c.608A>T	CCDS8037.1	.	.	.	.	.	.	.	.	.	.	T	19.00	3.741946	0.69418	.	.	ENSG00000162231	ENST00000294172;ENST00000532297;ENST00000530875;ENST00000439713	T;T;T;T	0.50277	0.8;0.8;0.77;0.75	5.33	5.33	0.75918	.	0.097121	0.64402	D	0.000002	T	0.61489	0.2351	L	0.57536	1.79	0.80722	D	1	D;P;D;B	0.69078	0.996;0.798;0.997;0.265	D;B;D;B	0.72075	0.976;0.29;0.967;0.03	T	0.59193	-0.7500	10	0.31617	T	0.26	-17.9731	11.6945	0.51536	0.0:0.0:0.0:1.0	.	66;246;216;203	B4E227;E9PIN3;Q59E96;Q9UBU9	.;.;.;NXF1_HUMAN	V	203;203;246;203	ENSP00000294172:E203V;ENSP00000436679:E203V;ENSP00000435742:E246V;ENSP00000408864:E203V	ENSP00000294172:E203V	E	-	2	0	NXF1	62325818	1.000000	0.71417	0.985000	0.45067	0.506000	0.33950	6.986000	0.76200	2.026000	0.59711	0.459000	0.35465	GAA		0.488	NXF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395365.2	NM_006362		56	86	0	0	0	1	0	56	86					A	62569242	T	A	62569242	3	1	341	1	0	0	0	0	1	0	0	0	10782	1783	62	5	1370	5	NXF1	11	62569242	Missense_Mutation	SNP	T	TCGA-KK-A8ID-01A-11D-A364-08	34889242	62569242	72437274	44	17273											
ANKK1	255239	broad.mit.edu	37	chr11	113265773	113265773	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atgttcctggagagtaacaaGgccccaggacctaaatatga	14	8	10	9	0	0	2	0	1	0	1	1	4	1	3	4	3	1	2	4	3	5	4			TCGA-KK-A8ID-01A-11D-A364-08	TCGA-KK-A8ID-11A-12D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	434c8d21-e732-4485-a382-84e8abf8bdb5	686e0817-587f-49c3-b654-8141a09dd79b	g.chr11:113265773G>T	ENST00000303941.3	+	3	697	c.603G>T	c.(601-603)aaG>aaT	p.K201N		NM_178510.1	NP_848605.1	Q8NFD2	ANKK1_HUMAN	ankyrin repeat and kinase domain containing 1	201	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.						ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(14)|ovary(1)|stomach(1)	29		all_cancers(61;1.53e-11)|all_epithelial(67;3e-06)|Melanoma(852;4.04e-05)|all_hematologic(158;0.000315)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0461)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Prostate(24;0.194)		BRCA - Breast invasive adenocarcinoma(274;4.82e-06)|Epithelial(105;5.41e-05)|all cancers(92;0.000442)|OV - Ovarian serous cystadenocarcinoma(223;0.238)		AGAGTAACAAGGCCCCAGGAC	0.587																																						ENST00000303941.3																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(14)|ovary(1)|stomach(1)	29						c.(601-603)aaG>aaT		ankyrin repeat and kinase domain containing 1							49	50	49					11																	113265773		2045	4177	6222	SO:0001583	missense	255239						ATP binding|protein serine/threonine kinase activity	g.chr11:113265773G>T	AJ541797	CCDS44734.1	11q23.2	2013-01-10			ENSG00000170209	ENSG00000170209		"Ankyrin repeat domain containing"	21027	protein-coding gene	gene with protein product		608774				15146457	Standard	NM_178510		Approved	X-kinase	uc001pny.3	Q8NFD2	OTTHUMG00000167715	ENST00000303941.3:c.603G>T	11.37:g.113265773G>T	ENSP00000306678:p.Lys201Asn						p.K201N	NM_178510.1	NP_848605.1	Q8NFD2	ANKK1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.82e-06)|Epithelial(105;5.41e-05)|all cancers(92;0.000442)|OV - Ovarian serous cystadenocarcinoma(223;0.238)	3	697	+		all_cancers(61;1.53e-11)|all_epithelial(67;3e-06)|Melanoma(852;4.04e-05)|all_hematologic(158;0.000315)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0461)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Prostate(24;0.194)	201			Protein kinase.			Missense_Mutation	SNP	ENST00000303941.3	37	c.603G>T	CCDS44734.1	.	.	.	.	.	.	.	.	.	.	G	10.89	1.478283	0.26511	.	.	ENSG00000170209	ENST00000303941	T	0.35048	1.33	4.04	1.96	0.26148	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.266404	0.25575	U	0.029739	T	0.40886	0.1135	L	0.39692	1.235	0.33423	D	0.580179	D	0.54601	0.967	P	0.60236	0.871	T	0.52749	-0.8534	10	0.62326	D	0.03	-7.5707	6.7181	0.23314	0.3897:0.0:0.6103:0.0	.	201	Q8NFD2	ANKK1_HUMAN	N	201	ENSP00000306678:K201N	ENSP00000306678:K201N	K	+	3	2	ANKK1	112770983	0.000000	0.05858	0.251000	0.24312	0.117000	0.20001	-0.181000	0.09740	0.897000	0.36392	0.305000	0.20034	AAG		0.587	ANKK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395830.1	NM_178510		4	11	1	0	0.00024832	1	0.00025775	4	11					T	113265773	G	T	113265773	3	4	341	1	0	0	0	0	1	0	0	0	631	991	35	5	613	5	ANKK1	11	113265773	Missense_Mutation	SNP	G	TCGA-KK-A8ID-01A-11D-A364-08	50696531	113265773	21740743	45	17274											
ROBO4	54538	broad.mit.edu	37	chr11	124755084	124755084	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tggcctccactcccacagggGcagggagaggttgggggtca	7	6	17	11	0	1	1	1	0	0	1	3	2	3	1	3	7	0	2	3	7	0	1			TCGA-KK-A8ID-01A-11D-A364-08	TCGA-KK-A8ID-11A-12D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	434c8d21-e732-4485-a382-84e8abf8bdb5	686e0817-587f-49c3-b654-8141a09dd79b	g.chr11:124755084G>T	ENST00000306534.3	-	17	3339	c.2854C>A	c.(2854-2856)Ccc>Acc	p.P952T	RP11-664I21.5_ENST00000524453.1_RNA|ROBO4_ENST00000533054.1_Missense_Mutation_p.P807T	NM_019055.5	NP_061928.4	Q8WZ75	ROBO4_HUMAN	roundabout, axon guidance receptor, homolog 4 (Drosophila)	952					angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|negative regulation of cell migration (GO:0030336)|regulation of cell migration (GO:0030334)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			NS(2)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(42)|ovary(1)|prostate(4)|skin(5)|urinary_tract(3)	76	all_hematologic(175;0.215)	Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0301)		TCCCACAGGGGCAGGGAGAGG	0.627																																						ENST00000306534.3																			0				NS(2)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(42)|ovary(1)|prostate(4)|skin(5)|urinary_tract(3)	76						c.(2854-2856)Ccc>Acc		roundabout, axon guidance receptor, homolog 4 (Drosophila)							48	51	50					11																	124755084		2201	4299	6500	SO:0001583	missense	54538				angiogenesis|cell differentiation	integral to membrane	receptor activity	g.chr11:124755084G>T	AF361473	CCDS8455.1, CCDS73409.1	11q24.2	2013-02-11	2011-12-09		ENSG00000154133	ENSG00000154133		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	17985	protein-coding gene	gene with protein product	"magic roundabout"	607528	"roundabout homolog 4 (Drosophila)"			11076864	Standard	NM_019055		Approved	FLJ20798, MRB, ECSM4	uc001qbg.3	Q8WZ75	OTTHUMG00000165936	ENST00000306534.3:c.2854C>A	11.37:g.124755084G>T	ENSP00000304945:p.Pro952Thr					ROBO4_ENST00000533054.1_Missense_Mutation_p.P807T|RP11-664I21.5_ENST00000524453.1_RNA	p.P952T	NM_019055.5	NP_061928.4	Q8WZ75	ROBO4_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0301)	17	3339	-	all_hematologic(175;0.215)	Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224)	952					A8K154|Q14DU7|Q8TEG1|Q96JV6|Q9H718|Q9NWJ8	Missense_Mutation	SNP	ENST00000306534.3	37	c.2854C>A	CCDS8455.1	.	.	.	.	.	.	.	.	.	.	G	18.18	3.566701	0.65651	.	.	ENSG00000154133	ENST00000306534;ENST00000533054	T;T	0.66815	-0.23;0.15	5.2	3.31	0.37934	.	0.200695	0.25241	N	0.032089	T	0.53916	0.1826	L	0.43152	1.355	0.29671	N	0.842482	B	0.12630	0.006	B	0.12837	0.008	T	0.50617	-0.8807	10	0.44086	T	0.13	.	6.4126	0.21700	0.0935:0.0:0.7258:0.1807	.	952	Q8WZ75	ROBO4_HUMAN	T	952;807	ENSP00000304945:P952T;ENSP00000437129:P807T	ENSP00000304945:P952T	P	-	1	0	ROBO4	124260294	1.000000	0.71417	0.968000	0.41197	0.940000	0.58332	1.812000	0.38952	0.570000	0.29347	0.655000	0.94253	CCC		0.627	ROBO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387111.1	NM_019055		28	55	1	0	1.06801e-11	1	1.26923e-11	28	55					T	124755084	G	T	124755084	3	4	341	1	0	0	0	0	1	0	0	0	13516	1203	42	5	177	5	ROBO4	11	124755084	Missense_Mutation	SNP	G	TCGA-KK-A8ID-01A-11D-A364-08	11489311	124755084	10251432	46	17275											
GRIN2B	2904	broad.mit.edu	37	chr12	13724776	13724776	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatgcatcatctacacccctCtggttgaactttcccatgta	10	13	5	13	0	3	1	1	1	2	0	4	1	4	1	3	1	3	3	3	1	4	4			TCGA-KK-A8ID-01A-11D-A364-08	TCGA-KK-A8ID-11A-12D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	434c8d21-e732-4485-a382-84e8abf8bdb5	686e0817-587f-49c3-b654-8141a09dd79b	g.chr12:13724776C>A	ENST00000609686.1	-	10	2342	c.2133G>T	c.(2131-2133)caG>caT	p.Q711H		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	711					behavioral fear response (GO:0001662)|behavioral response to pain (GO:0048266)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|glutamate receptor signaling pathway (GO:0007215)|in utero embryonic development (GO:0001701)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning (GO:0007612)|learning or memory (GO:0007611)|memory (GO:0007613)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of synaptic plasticity (GO:0048167)|response to ethanol (GO:0045471)|sensory organ development (GO:0007423)|startle response (GO:0001964)|suckling behavior (GO:0001967)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Haloperidol(DB00502)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	CTACACCCCTCTGGTTGAACT	0.463																																						ENST00000279593.3																			0				NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143						c.(2131-2133)caG>caT		glutamate receptor, ionotropic, N-methyl D-aspartate 2B	Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)						261	222	235					12																	13724776		2203	4300	6503	SO:0001583	missense	2904				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	g.chr12:13724776C>A		CCDS8662.1	12p13.1	2014-07-16			ENSG00000273079			"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4586	protein-coding gene	gene with protein product		138252		NMDAR2B		1350383	Standard	NM_000834		Approved	GluN2B	uc001rbt.2	Q13224	OTTHUMG00000137373	ENST00000609686.1:c.2133G>T	12.37:g.13724776C>A	ENSP00000477455:p.Gln711His						p.Q711H	NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN			10	2342	-			711					Q12919|Q13220|Q13225|Q14CU4|Q9UM56	Missense_Mutation	SNP	ENST00000609686.1	37	c.2133G>T	CCDS8662.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.128555	0.77549	.	.	ENSG00000150086	ENST00000279593	T	0.51071	0.72	5.73	4.83	0.62350	Extracellular solute-binding protein, family 3 (1);Ionotropic glutamate receptor (2);	0.000000	0.85682	D	0.000000	T	0.66694	0.2815	M	0.74881	2.28	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.70457	-0.4866	10	0.87932	D	0	.	11.3314	0.49479	0.0:0.8524:0.0:0.1476	.	711	Q13224	NMDE2_HUMAN	H	711	ENSP00000279593:Q711H	ENSP00000279593:Q711H	Q	-	3	2	GRIN2B	13616043	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.011000	0.57124	1.529000	0.49120	0.655000	0.94253	CAG		0.463	GRIN2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268014.2			4	127	1	0	0.000602214	1	0.00061727	4	127					A	13724776	C	A	13724776	3	1	341	1	0	0	0	0	1	0	0	0	6780	912	32	5	2337	5	GRIN2B	12	13724776	Missense_Mutation	SNP	C	TCGA-KK-A8ID-01A-11D-A364-08		13724776	120127119	47	17276											
SRGAP1	57522	broad.mit.edu	37	chr12	64502788	64502788	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cccaggtcggtccttatagtGatgaggtacctctttgcctt	6	14	10	11	1	1	2	0	2	1	0	3	2	2	2	4	3	2	1	4	3	3	5			TCGA-KK-A8ID-01A-11D-A364-08	TCGA-KK-A8ID-11A-12D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	434c8d21-e732-4485-a382-84e8abf8bdb5	686e0817-587f-49c3-b654-8141a09dd79b	g.chr12:64502788G>A	ENST00000355086.3	+	16	2414	c.1890G>A	c.(1888-1890)gtG>gtA	p.V630V	SRGAP1_ENST00000357825.3_Silent_p.V607V|SRGAP1_ENST00000543397.1_Silent_p.V567V|RP11-196H14.4_ENST00000535806.1_RNA	NM_020762.2	NP_065813.1	Q7Z6B7	SRGP1_HUMAN	SLIT-ROBO Rho GTPase activating protein 1	630	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				axon guidance (GO:0007411)|cell migration (GO:0016477)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	Rho GTPase activator activity (GO:0005100)			breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	65			GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225)	GBM - Glioblastoma multiforme(28;0.0608)		TCCTTATAGTGATGAGGTACC	0.448																																						ENST00000355086.3																			0				breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	65						c.(1888-1890)gtG>gtA		SLIT-ROBO Rho GTPase activating protein 1							141	124	130					12																	64502788		2203	4300	6503	SO:0001819	synonymous_variant	57522				axon guidance	cytosol		g.chr12:64502788G>A	AB037725	CCDS8967.1	12q13.13	2011-07-04			ENSG00000196935	ENSG00000196935		"Rho GTPase activating proteins"	17382	protein-coding gene	gene with protein product		606523				11672528	Standard	NM_020762		Approved	KIAA1304, ARHGAP13	uc010ssp.1	Q7Z6B7	OTTHUMG00000168750	ENST00000355086.3:c.1890G>A	12.37:g.64502788G>A						SRGAP1_ENST00000543397.1_Silent_p.V567V|RP11-196H14.4_ENST00000535806.1_RNA|SRGAP1_ENST00000357825.3_Silent_p.V607V	p.V630V	NM_020762.2	NP_065813.1	Q7Z6B7	SRGP1_HUMAN	GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225)	GBM - Glioblastoma multiforme(28;0.0608)	16	2414	+			630			Rho-GAP.		Q9H8A3|Q9P2P2	Silent	SNP	ENST00000355086.3	37	c.1890G>A	CCDS8967.1																																																																																				0.448	SRGAP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000400896.1			49	70	0	0	0	1	0	49	70					A	64502788	G	A	64502788	2	1	341	1	0	0	0	0	0	0	0	1	15144	1277	45	3		3	SRGAP1	12	64502788	Silent	SNP	G	TCGA-KK-A8ID-01A-11D-A364-08	50778012	64502788	69349107	48	17277											
TMTC2	160335	broad.mit.edu	37	chr12	83424606	83424606	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agtgaggctgaaaagctcttCttgaaggctattgagctgga	11	11	13	6	0	2	4	0	4	2	0	2	5	2	5	0	3	2	4	0	3	4	4			TCGA-KK-A8ID-01A-11D-A364-08	TCGA-KK-A8ID-11A-12D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	434c8d21-e732-4485-a382-84e8abf8bdb5	686e0817-587f-49c3-b654-8141a09dd79b	g.chr12:83424606C>T	ENST00000321196.3	+	9	2807	c.2100C>T	c.(2098-2100)ttC>ttT	p.F700F	TMTC2_ENST00000549919.1_Silent_p.F694F	NM_152588.1	NP_689801.1	Q8N394	TMTC2_HUMAN	transmembrane and tetratricopeptide repeat containing 2	700					calcium ion homeostasis (GO:0055074)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(7)|lung(13)|ovary(2)|skin(1)|urinary_tract(1)	39						AAAAGCTCTTCTTGAAGGCTA	0.423																																						ENST00000549919.1																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(7)|lung(13)|ovary(2)|skin(1)|urinary_tract(1)	39						c.(2080-2082)ttC>ttT		transmembrane and tetratricopeptide repeat containing 2							196	177	184					12																	83424606		2203	4300	6503	SO:0001819	synonymous_variant	160335					endoplasmic reticulum|integral to membrane	binding	g.chr12:83424606C>T	AK074634	CCDS9025.1	12q21.31	2014-06-09			ENSG00000179104	ENSG00000179104		"Tetratricopeptide (TTC) repeat domain containing"	25440	protein-coding gene	gene with protein product		615856				24764305	Standard	NM_152588		Approved	DKFZp762A217	uc001szt.3	Q8N394	OTTHUMG00000169736	ENST00000321196.3:c.2100C>T	12.37:g.83424606C>T						TMTC2_ENST00000321196.3_Silent_p.F700F	p.F694F			Q8N394	TMTC2_HUMAN			10	3887	+			700					B2RCU7|Q8N2K8	Silent	SNP	ENST00000321196.3	37	c.2082C>T	CCDS9025.1																																																																																				0.423	TMTC2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405663.1	NM_152588		33	61	0	0	0	1	0	33	61					T	83424606	C	T	83424606	2	4	341	1	0	0	0	0	0	0	0	1	16258	912	32	3		3	TMTC2	12	83424606	Silent	SNP	C	TCGA-KK-A8ID-01A-11D-A364-08	18921818	83424606	50427289	49	17278											
CRYL1	51084	broad.mit.edu	37	chr13	21006359	21006359	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tcttcttcatcagggcgtggGttctgtccactgtcgtaggg	4	14	13	10	2	5	0	2	0	3	0	7	0	6	0	1	3	0	2	1	3	1	4			TCGA-KK-A8ID-01A-11D-A364-08	TCGA-KK-A8ID-11A-12D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	434c8d21-e732-4485-a382-84e8abf8bdb5	686e0817-587f-49c3-b654-8141a09dd79b	g.chr13:21006359G>T	ENST00000298248.7	-	5	577	c.515C>A	c.(514-516)aCc>aAc	p.T172N	MIR4499_ENST00000584834.1_RNA|CRYL1_ENST00000480748.1_5'UTR|CRYL1_ENST00000382812.1_Missense_Mutation_p.T150N	NM_015974.2	NP_057058.2	Q9Y2S2	CRYL1_HUMAN	crystallin, lambda 1	172					fatty acid metabolic process (GO:0006631)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	3-hydroxyacyl-CoA dehydrogenase activity (GO:0003857)|L-gulonate 3-dehydrogenase activity (GO:0050104)|NAD+ binding (GO:0070403)|protein homodimerization activity (GO:0042803)			NS(1)|kidney(1)|large_intestine(5)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	14		all_cancers(29;2.27e-23)|all_epithelial(30;1.69e-19)|all_lung(29;8.29e-18)|Lung SC(185;0.0262)|Ovarian(182;0.0827)|Hepatocellular(188;0.244)		all cancers(112;6.6e-05)|Epithelial(112;0.00178)|OV - Ovarian serous cystadenocarcinoma(117;0.0169)|Lung(94;0.0215)|GBM - Glioblastoma multiforme(144;0.0402)|LUSC - Lung squamous cell carcinoma(192;0.061)		CAGGGCGTGGGTTCTGTCCAC	0.587																																						ENST00000382812.1																			0				NS(1)|kidney(1)|large_intestine(5)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	14						c.(448-450)aCc>aAc		crystallin, lambda 1							64	67	66					13																	21006359		2031	4169	6200	SO:0001583	missense	51084				fatty acid metabolic process	cytosol	3-hydroxyacyl-CoA dehydrogenase activity|L-gulonate 3-dehydrogenase activity|NAD+ binding|protein homodimerization activity	g.chr13:21006359G>T	AF077049	CCDS41871.1	13q11	2008-07-18			ENSG00000165475	ENSG00000165475			18246	protein-coding gene	gene with protein product	"crystallin, lamda 1", "L-gulonate 3-dehydrogenase", "lambda-crystallin homolog"	609877				12527201	Standard	NM_015974		Approved	GDH, lambda-CRY, MGC149525, MGC149526	uc001une.3	Q9Y2S2	OTTHUMG00000016516	ENST00000298248.7:c.515C>A	13.37:g.21006359G>T	ENSP00000298248:p.Thr172Asn					CRYL1_ENST00000298248.7_Missense_Mutation_p.T172N|CRYL1_ENST00000480748.1_5'UTR	p.T150N			Q9Y2S2	CRYL1_HUMAN		all cancers(112;6.6e-05)|Epithelial(112;0.00178)|OV - Ovarian serous cystadenocarcinoma(117;0.0169)|Lung(94;0.0215)|GBM - Glioblastoma multiforme(144;0.0402)|LUSC - Lung squamous cell carcinoma(192;0.061)	6	677	-		all_cancers(29;2.27e-23)|all_epithelial(30;1.69e-19)|all_lung(29;8.29e-18)|Lung SC(185;0.0262)|Ovarian(182;0.0827)|Hepatocellular(188;0.244)	172					A0PJ43|B3KN92|Q0VDI1|Q7Z4Z9|Q9P0G7	Missense_Mutation	SNP	ENST00000298248.7	37	c.449C>A	CCDS41871.1	.	.	.	.	.	.	.	.	.	.	G	17.85	3.490485	0.64074	.	.	ENSG00000165475	ENST00000298248;ENST00000382812	T;T	0.78003	-1.14;-1.14	5.43	5.43	0.79202	3-hydroxyacyl-CoA dehydrogenase, NAD binding (1);NAD(P)-binding domain (1);	0.204155	0.52532	D	0.000070	D	0.91482	0.7311	M	0.93283	3.4	0.80722	D	1	D;D	0.69078	0.996;0.997	D;D	0.77004	0.984;0.989	D	0.93407	0.6765	10	0.87932	D	0	-32.1522	19.239	0.93875	0.0:0.0:1.0:0.0	.	46;172	B4DWM9;Q9Y2S2	.;CRYL1_HUMAN	N	172;150	ENSP00000298248:T172N;ENSP00000372262:T150N	ENSP00000298248:T172N	T	-	2	0	CRYL1	19904359	1.000000	0.71417	0.980000	0.43619	0.685000	0.39939	6.688000	0.74557	2.533000	0.85409	0.491000	0.48974	ACC		0.587	CRYL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044071.1	NM_015974		21	97	1	0	4.35082e-09	1	4.9551e-09	21	97					T	21006359	G	T	21006359	3	4	341	1	0	0	0	0	1	0	0	0	3920	1261	44	5	460	5	CRYL1	13	21006359	Missense_Mutation	SNP	G	TCGA-KK-A8ID-01A-11D-A364-08		21006359	94163519	50	17279											
WASF3	10810	broad.mit.edu	37	chr13	27256890	27256890	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gttccctgcatcagccagctCcacgcacgcagctcctcctc	6	8	7	20	2	1	0	1	0	0	0	6	0	5	0	5	0	4	6	5	0	0	1	rs372445710		TCGA-KK-A8ID-01A-11D-A364-08	TCGA-KK-A8ID-11A-12D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	434c8d21-e732-4485-a382-84e8abf8bdb5	686e0817-587f-49c3-b654-8141a09dd79b	g.chr13:27256890C>T	ENST00000335327.5	+	9	1308	c.1130C>T	c.(1129-1131)tCc>tTc	p.S377F	WASF3_ENST00000361042.4_Missense_Mutation_p.S374F	NM_006646.5	NP_006637.2	Q9UPY6	WASF3_HUMAN	WAS protein family, member 3	377					actin filament polymerization (GO:0030041)|cytoskeleton organization (GO:0007010)|lamellipodium assembly (GO:0030032)|oligodendrocyte development (GO:0014003)|positive regulation of myelination (GO:0031643)|protein complex assembly (GO:0006461)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)		p.S377F(1)		breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|pancreas(1)|prostate(2)|skin(2)	22	Colorectal(5;0.000247)	Lung SC(185;0.0156)|Breast(139;0.147)		all cancers(112;0.0114)|Epithelial(112;0.046)|OV - Ovarian serous cystadenocarcinoma(117;0.0547)|Lung(94;0.105)|LUSC - Lung squamous cell carcinoma(192;0.155)		TCAGCCAGCTCCACGCACGCA	0.701																																						ENST00000361042.4																			1	Substitution - Missense(1)	p.S377F(1)	skin(1)	breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|pancreas(1)|prostate(2)|skin(2)	22						c.(1120-1122)tCc>tTc		WAS protein family, member 3		C	PHE/SER	0,4406		0,0,2203	103	92	96		1130	3.5	0	13		96	1,8599	1.2+/-3.3	0,1,4299	no	missense	WASF3	NM_006646.5	155	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	377/503	27256890	1,13005	2203	4300	6503	SO:0001583	missense	10810				actin filament polymerization	cytoplasm|cytoskeleton	actin binding	g.chr13:27256890C>T	AB020707	CCDS9318.1	13q12	2008-06-23			ENSG00000132970	ENSG00000132970			12734	protein-coding gene	gene with protein product		605068				10381382	Standard	NM_006646		Approved	WAVE3, SCAR3, KIAA0900	uc001uqv.3	Q9UPY6	OTTHUMG00000016621	ENST00000335327.5:c.1130C>T	13.37:g.27256890C>T	ENSP00000335055:p.Ser377Phe					WASF3_ENST00000335327.5_Missense_Mutation_p.S377F	p.S374F			Q9UPY6	WASF3_HUMAN		all cancers(112;0.0114)|Epithelial(112;0.046)|OV - Ovarian serous cystadenocarcinoma(117;0.0547)|Lung(94;0.105)|LUSC - Lung squamous cell carcinoma(192;0.155)	9	1346	+	Colorectal(5;0.000247)	Lung SC(185;0.0156)|Breast(139;0.147)	377					O94974|Q86VQ2	Missense_Mutation	SNP	ENST00000335327.5	37	c.1121C>T	CCDS9318.1	.	.	.	.	.	.	.	.	.	.	C	10.45	1.352533	0.24512	0.0	1.16E-4	ENSG00000132970	ENST00000361042;ENST00000335327	T;T	0.49432	0.78;0.78	5.25	3.49	0.39957	.	0.847069	0.11243	N	0.584446	T	0.43545	0.1252	M	0.65975	2.015	0.36964	D	0.893504	P;B	0.42409	0.779;0.018	B;B	0.37304	0.246;0.05	T	0.45205	-0.9277	10	0.23891	T	0.37	-3.8775	10.0892	0.42436	0.0:0.7766:0.1475:0.0759	.	374;377	Q86VQ2;Q9UPY6	.;WASF3_HUMAN	F	374;377	ENSP00000354325:S374F;ENSP00000335055:S377F	ENSP00000335055:S377F	S	+	2	0	WASF3	26154890	0.040000	0.19996	0.023000	0.16930	0.070000	0.16714	2.256000	0.43231	1.192000	0.43071	0.491000	0.48974	TCC		0.701	WASF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044258.1			23	37	0	0	0	1	0	23	37					T	27256890	C	T	27256890	3	4	341	1	0	0	0	0	1	0	0	0	17251	855	30	3	1156	3	WASF3	13	27256890	Missense_Mutation	SNP	C	TCGA-KK-A8ID-01A-11D-A364-08	6250531	27256890	87912988	51	17280											
BCL11B	64919	broad.mit.edu	37	chr14	99642454	99642454	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaagccgtgcgtgttctgcGcgtgctgcagcaggaaccac	7	7	15	12	4	1	0	0	0	1	0	1	2	1	2	2	2	7	4	2	2	2	1			TCGA-KK-A8ID-01A-11D-A364-08	TCGA-KK-A8ID-11A-12D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	434c8d21-e732-4485-a382-84e8abf8bdb5	686e0817-587f-49c3-b654-8141a09dd79b	g.chr14:99642454G>T	ENST00000357195.3	-	4	728	c.719C>A	c.(718-720)gCg>gAg	p.A240E	BCL11B_ENST00000443726.2_Missense_Mutation_p.A46E|BCL11B_ENST00000345514.2_Missense_Mutation_p.A169E	NM_001282237.1|NM_138576.2	NP_001269166.1|NP_612808.1	Q9C0K0	BC11B_HUMAN	B-cell CLL/lymphoma 11B (zinc finger protein)	240					alpha-beta T cell differentiation (GO:0046632)|epithelial cell morphogenesis (GO:0003382)|keratinocyte development (GO:0003334)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|odontogenesis of dentin-containing tooth (GO:0042475)|olfactory bulb axon guidance (GO:0071678)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive T cell selection (GO:0043368)|post-embryonic camera-type eye development (GO:0031077)|regulation of keratinocyte proliferation (GO:0010837)|regulation of lipid metabolic process (GO:0019216)|regulation of neuron differentiation (GO:0045664)|striatal medium spiny neuron differentiation (GO:0021773)|T cell differentiation in thymus (GO:0033077)|T cell receptor V(D)J recombination (GO:0033153)|thymus development (GO:0048538)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(3)|breast(1)|central_nervous_system(9)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)|skin(2)	34		Melanoma(154;0.0866)|all_epithelial(191;0.241)		COAD - Colon adenocarcinoma(157;0.103)		CGTGTTCTGCGCGTGCTGCAG	0.652			T	TLX3	T-ALL																																	ENST00000345514.2				Dom	yes		14	14q32.1	64919	T	B-cell CLL/lymphoma 11B  (CTIP2)			L	TLX3		T-ALL		0				NS(3)|breast(1)|central_nervous_system(9)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)|skin(2)	34						c.(505-507)gCg>gAg		B-cell CLL/lymphoma 11B (zinc finger protein)							30	29	29					14																	99642454		2201	4297	6498	SO:0001583	missense	64919					nucleus	zinc ion binding	g.chr14:99642454G>T	AJ404614	CCDS9949.1, CCDS9950.1	14q32	2013-01-08			ENSG00000127152	ENSG00000127152		"Zinc fingers, C2H2-type"	13222	protein-coding gene	gene with protein product		606558		ZNF856B		11719382, 16950772	Standard	NM_138576		Approved	CTIP-2, CTIP2, hRIT1-alpha	uc001yga.3	Q9C0K0	OTTHUMG00000028967	ENST00000357195.3:c.719C>A	14.37:g.99642454G>T	ENSP00000349723:p.Ala240Glu					BCL11B_ENST00000443726.2_Missense_Mutation_p.A46E|BCL11B_ENST00000357195.3_Missense_Mutation_p.A240E	p.A169E	NM_022898.1	NP_075049.1	Q9C0K0	BC11B_HUMAN		COAD - Colon adenocarcinoma(157;0.103)	3	772	-		Melanoma(154;0.0866)|all_epithelial(191;0.241)	240					Q9H162	Missense_Mutation	SNP	ENST00000357195.3	37	c.506C>A	CCDS9950.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.949440	0.73787	.	.	ENSG00000127152	ENST00000357195;ENST00000345514;ENST00000443726	T;T;T	0.22945	1.93;2.12;2.11	4.68	4.68	0.58851	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);	0.000000	0.64402	D	0.000004	T	0.49660	0.1570	M	0.64170	1.965	0.58432	D	0.999991	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.49890	-0.8891	10	0.51188	T	0.08	-17.6122	17.955	0.89065	0.0:0.0:1.0:0.0	.	169;240	Q9C0K0-2;Q9C0K0	.;BC11B_HUMAN	E	240;169;46	ENSP00000349723:A240E;ENSP00000280435:A169E;ENSP00000387419:A46E	ENSP00000280435:A169E	A	-	2	0	BCL11B	98712207	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.552000	0.67281	2.323000	0.78572	0.655000	0.94253	GCG		0.652	BCL11B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000072332.2	NM_138576		6	25	1	0	1.6384e-10	1	1.89224e-10	6	25					T	99642454	G	T	99642454	3	4	341	1	0	0	0	0	1	0	0	0	1364	1087	38	5	1969	5	BCL11B	14	99642454	Missense_Mutation	SNP	G	TCGA-KK-A8ID-01A-11D-A364-08		99642454	7707086	52	17281											
UBE3A	7337	broad.mit.edu	37	chr15	25605555	25605555	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tctggattgaagatttcctcCacaaccagctgaaaaaattc	14	11	6	10	0	1	3	0	2	1	1	4	4	3	4	3	1	2	1	3	1	5	3			TCGA-KK-A8ID-01A-11D-A364-08	TCGA-KK-A8ID-11A-12D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	434c8d21-e732-4485-a382-84e8abf8bdb5	686e0817-587f-49c3-b654-8141a09dd79b	g.chr15:25605555C>T	ENST00000397954.2	-	5	1736	c.1737G>A	c.(1735-1737)gtG>gtA	p.V579V	UBE3A_ENST00000438097.1_Silent_p.V556V|SNHG14_ENST00000554726.1_RNA|UBE3A_ENST00000566215.1_Silent_p.V556V|UBE3A_ENST00000428984.2_Silent_p.V556V|UBE3A_ENST00000232165.3_Silent_p.V576V			Q05086	UBE3A_HUMAN	ubiquitin protein ligase E3A	579					androgen receptor signaling pathway (GO:0030521)|brain development (GO:0007420)|ovarian follicle development (GO:0001541)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prostate gland growth (GO:0060736)|protein autoubiquitination (GO:0051865)|protein K48-linked ubiquitination (GO:0070936)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|proteolysis (GO:0006508)|sperm entry (GO:0035037)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|proteasome complex (GO:0000502)	ligase activity (GO:0016874)|transcription coactivator activity (GO:0003713)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(13)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	38		all_cancers(20;3.47e-21)|Breast(32;0.00123)		all cancers(64;2.78e-08)|Epithelial(43;8.85e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0155)|Lung(196;0.0616)		AGATTTCCTCCACAACCAGCT	0.343																																						ENST00000232165.3																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(13)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	38						c.(1726-1728)gtG>gtA		ubiquitin protein ligase E3A							115	104	108					15																	25605555		2203	4300	6503	SO:0001819	synonymous_variant	7337				brain development|interspecies interaction between organisms|protein K48-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus|proteasome complex	protein binding|ubiquitin-protein ligase activity	g.chr15:25605555C>T	AF002224	CCDS32177.1, CCDS45191.1, CCDS45192.1	15q11.2	2014-09-17	2008-07-31		ENSG00000114062	ENSG00000114062	6.3.2.19		12496	protein-coding gene	gene with protein product	"Angelman syndrome"	601623	"human papilloma virus E6-associated protein"	EPVE6AP, HPVE6A		8221889	Standard	NM_130838		Approved	AS, ANCR, E6-AP, FLJ26981	uc001zas.3	Q05086		ENST00000397954.2:c.1737G>A	15.37:g.25605555C>T						SNHG14_ENST00000554726.1_RNA|UBE3A_ENST00000566215.1_Silent_p.V556V|UBE3A_ENST00000397954.2_Silent_p.V579V|UBE3A_ENST00000438097.1_Silent_p.V556V|UBE3A_ENST00000428984.2_Silent_p.V556V	p.V576V	NM_000462.3|NM_130839.2	NP_000453.2|NP_570854.1	Q05086	UBE3A_HUMAN		all cancers(64;2.78e-08)|Epithelial(43;8.85e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0155)|Lung(196;0.0616)	7	2384	-		all_cancers(20;3.47e-21)|Breast(32;0.00123)	579					A8K8Z9|P78355|Q93066|Q9UEP4|Q9UEP5|Q9UEP6|Q9UEP7|Q9UEP8|Q9UEP9	Silent	SNP	ENST00000397954.2	37	c.1728G>A	CCDS45192.1																																																																																				0.343	UBE3A-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000434203.1	NM_000462		34	31	0	0	0	1	0	34	31					T	25605555	C	T	25605555	2	4	341	1	0	0	0	0	0	0	0	1	16876	581	21	3		3	UBE3A	15	25605555	Silent	SNP	C	TCGA-KK-A8ID-01A-11D-A364-08		25605555	76925837	53	17282											
XYLT1	64131	broad.mit.edu	37	chr16	17292238	17292238	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	attgctgtactgcctggagaCctggagcacttgccgatgca	8	10	12	11	1	0	1	0	0	0	1	0	4	0	2	3	2	6	4	3	2	1	3			TCGA-KK-A8ID-01A-11D-A364-08	TCGA-KK-A8ID-11A-12D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	434c8d21-e732-4485-a382-84e8abf8bdb5	686e0817-587f-49c3-b654-8141a09dd79b	g.chr16:17292238C>T	ENST00000261381.6	-	5	1204	c.1120G>A	c.(1120-1122)Gtc>Atc	p.V374I		NM_022166.3	NP_071449.1	Q86Y38	XYLT1_HUMAN	xylosyltransferase I	374					cellular response to heat (GO:0034605)|chondroitin sulfate biosynthetic process (GO:0030206)|glycosaminoglycan biosynthetic process (GO:0006024)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)	endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	acetylglucosaminyltransferase activity (GO:0008375)|protein xylosyltransferase activity (GO:0030158)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						TGCCTGGAGACCTGGAGCACT	0.587																																						ENST00000261381.6																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						c.(1120-1122)Gtc>Atc		xylosyltransferase I							78	60	66					16																	17292238		2197	4300	6497	SO:0001583	missense	64131				glycosaminoglycan biosynthetic process	endoplasmic reticulum membrane|extracellular region|Golgi membrane|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity	g.chr16:17292238C>T	AJ277441	CCDS10569.1	16p12	2013-02-25			ENSG00000103489	ENSG00000103489	2.4.2.26	"Glucosaminyl (N-acetyl) transferase and xylosyltransferase family"	15516	protein-coding gene	gene with protein product	"protein xylosyltransferase 1"	608124				11099377	Standard	NM_022166		Approved	XT-I, PXYLT1	uc002dfa.3	Q86Y38	OTTHUMG00000129975	ENST00000261381.6:c.1120G>A	16.37:g.17292238C>T	ENSP00000261381:p.Val374Ile						p.V374I	NM_022166.3	NP_071449.1	Q86Y38	XYLT1_HUMAN			5	1204	-			374					Q9H1B6	Missense_Mutation	SNP	ENST00000261381.6	37	c.1120G>A	CCDS10569.1	.	.	.	.	.	.	.	.	.	.	C	12.85	2.062381	0.36373	.	.	ENSG00000103489	ENST00000261381	T	0.10668	2.85	5.35	1.66	0.24008	.	0.290733	0.40908	D	0.000987	T	0.06096	0.0158	N	0.17631	0.505	0.27375	N	0.955571	B	0.15141	0.012	B	0.06405	0.002	T	0.35847	-0.9772	10	0.27082	T	0.32	-7.6204	7.7762	0.29039	0.5961:0.2761:0.0:0.1277	.	374	Q86Y38	XYLT1_HUMAN	I	374	ENSP00000261381:V374I	ENSP00000261381:V374I	V	-	1	0	XYLT1	17199739	0.981000	0.34729	0.931000	0.37212	0.804000	0.45430	0.352000	0.20113	0.003000	0.14656	-0.266000	0.10368	GTC		0.587	XYLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252241.2	NM_022166		3	34	0	0	0	1	0	3	34					T	17292238	C	T	17292238	3	4	341	1	0	0	0	0	1	0	0	0	17460	507	18	3	1791	3	XYLT1	16	17292238	Missense_Mutation	SNP	C	TCGA-KK-A8ID-01A-11D-A364-08		17292238	73062515	54	17283											
FAM57B	83723	broad.mit.edu	37	chr16	30036752	30036752	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgagcagcatcagggcccCgttcaccttgtgcagcagtg	7	8	13	13	1	2	1	2	1	0	0	2	1	2	1	3	1	4	6	3	1	0	2			TCGA-KK-A8ID-01A-11D-A364-08	TCGA-KK-A8ID-11A-12D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	434c8d21-e732-4485-a382-84e8abf8bdb5	686e0817-587f-49c3-b654-8141a09dd79b	g.chr16:30036752C>T	ENST00000380495.4	-	5	1308	c.577G>A	c.(577-579)Ggg>Agg	p.G193R	FAM57B_ENST00000564806.1_3'UTR|FAM57B_ENST00000279389.4_Missense_Mutation_p.G143R	NM_031478.4	NP_113666.2	Q71RH2	FA57B_HUMAN	family with sequence similarity 57, member B	193	TLC. {ECO:0000255|PROSITE- ProRule:PRU00205}.				ceramide biosynthetic process (GO:0046513)|negative regulation of fat cell differentiation (GO:0045599)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	sphingosine N-acyltransferase activity (GO:0050291)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(1)	14						ATCAGGGCCCCGTTCACCTTG	0.662																																						ENST00000380495.4																			0				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(1)	14						c.(577-579)Ggg>Agg		family with sequence similarity 57, member B							45	50	48					16																	30036752		2197	4300	6497	SO:0001583	missense	83723					endoplasmic reticulum|integral to membrane		g.chr16:30036752C>T	AF370365	CCDS10667.2	16p11.2	2013-02-19			ENSG00000149926	ENSG00000149926			25295	protein-coding gene	gene with protein product		615175				11230166, 23275342	Standard	NM_031478		Approved	DKFZP434I2117	uc002dvt.3	Q71RH2	OTTHUMG00000132105	ENST00000380495.4:c.577G>A	16.37:g.30036752C>T	ENSP00000369863:p.Gly193Arg					FAM57B_ENST00000564806.1_3'UTR|FAM57B_ENST00000279389.4_Missense_Mutation_p.G143R	p.G193R	NM_031478.4	NP_113666.2	Q71RH2	FA57B_HUMAN			5	1308	-			193			TLC.		Q9H0J1	Missense_Mutation	SNP	ENST00000380495.4	37	c.577G>A	CCDS10667.2	.	.	.	.	.	.	.	.	.	.	C	28.8	4.954569	0.92726	.	.	ENSG00000149926	ENST00000380495	D	0.87966	-2.32	4.78	4.78	0.61160	TRAM/LAG1/CLN8 homology domain (3);	0.000000	0.85682	D	0.000000	D	0.94355	0.8185	M	0.88105	2.93	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95325	0.8424	10	0.66056	D	0.02	-0.1236	16.5745	0.84633	0.0:1.0:0.0:0.0	.	193	Q71RH2	FA57B_HUMAN	R	193	ENSP00000369863:G193R	ENSP00000369863:G193R	G	-	1	0	FAM57B	29944253	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.505000	0.81655	2.185000	0.69588	0.561000	0.74099	GGG		0.662	FAM57B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255142.2	NM_031478		3	30	0	0	0	1	0	3	30					T	30036752	C	T	30036752	3	4	341	1	0	0	0	0	1	0	0	0	5589	652	23	2	251	2	FAM57B	16	30036752	Missense_Mutation	SNP	C	TCGA-KK-A8ID-01A-11D-A364-08	12744514	30036752	60318001	55	17284											
CCDC113	29070	broad.mit.edu	37	chr16	58301442	58301468	+	In_Frame_Del	DEL	AAAAGAGCTACTTGAAAAAATTGAAAA	AAAAGAGCTACTTGAAAAAATTGAAAA	-																															gacaaggagatcttgctgagAaaagagctacttgaaaaaat																										TCGA-KK-A8ID-01A-11D-A364-08	TCGA-KK-A8ID-11A-12D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	434c8d21-e732-4485-a382-84e8abf8bdb5	686e0817-587f-49c3-b654-8141a09dd79b	g.chr16:58301442_58301468delAAAAGAGCTACTTGAAAAAATTGAAAA	ENST00000219299.4	+	7	922_948	c.843_869delAAAAGAGCTACTTGAAAAAATTGAAAA	c.(841-870)agaaaagagctacttgaaaaaattgaaaaa>aga	p.KELLEKIEK282del	CCDC113_ENST00000443128.2_In_Frame_Del_p.KELLEKIEK228del	NM_014157.3	NP_054876.2	Q9H0I3	CC113_HUMAN	coiled-coil domain containing 113	282						cytoplasm (GO:0005737)|nucleus (GO:0005634)|protein complex (GO:0043234)				large_intestine(4)|lung(6)|ovary(1)|urinary_tract(1)	12						TCTTGCTGAGAAAAGAGCTACTTGAAAAAATTGAAAAAGAAACACTA	0.396																																						ENST00000219299.4																			0				large_intestine(4)|lung(6)|ovary(1)|urinary_tract(1)	12						c.(841-870)aga>ag		coiled-coil domain containing 113																																				SO:0001651	inframe_deletion	29070					protein complex		g.chr16:58301442_58301468delAAAAGAGCTACTTGAAAAAATTGAAAA	AL136785	CCDS10795.1, CCDS45497.1	16q21	2008-02-05			ENSG00000103021	ENSG00000103021			25002	protein-coding gene	gene with protein product						11230166, 11042152	Standard	NM_014157		Approved	HSPC065, DKFZp434N1418	uc002ene.3	Q9H0I3	OTTHUMG00000133489	ENST00000219299.4:c.843_869delAAAAGAGCTACTTGAAAAAATTGAAAA	16.37:g.58301442_58301468delAAAAGAGCTACTTGAAAAAATTGAAAA	ENSP00000219299:p.Lys282_Lys290del					CCDC113_ENST00000443128.2_In_Frame_Del_p.RKELLEKIEK227del	p.RKELLEKIEK281del	NM_014157.3	NP_054876.2	Q9H0I3	CC113_HUMAN			7	922_948	+			281					B2RAQ7|B4DR20|Q9NZX2	In_Frame_Del	DEL	ENST00000219299.4	37	c.843_869delAAAAGAGCTACTTGAAAAAATTGAAAA	CCDS10795.1																																																																																				0.396	CCDC113-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257387.2	NM_014157		27	79						27	79	---	---	---	---	-	58301468	AAAAGAGCTACTTGAAAAAATTGAAAA	-	58301442	7	5	341	1	0	1	0	1	0	0	0	0	2750	243	9	0	869	0	CCDC113	16	58301442	In_Frame_Del	DEL	AAAAGAGCTACTTGAAAAAATTGAAAA	TCGA-KK-A8ID-01A-11D-A364-08	28264690	58301442	32053311	56	17285											
CMIP	80790	broad.mit.edu	37	chr16	81685832	81685832	+	Missense_Mutation	SNP	G	G	C																															agatttacaaatataagaaaGtgctgagtaacccaagccgc																										TCGA-KK-A8ID-01A-11D-A364-08	TCGA-KK-A8ID-11A-12D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	434c8d21-e732-4485-a382-84e8abf8bdb5	686e0817-587f-49c3-b654-8141a09dd79b	g.chr16:81685832G>C	ENST00000537098.3	+	4	574	c.502G>C	c.(502-504)Gtg>Ctg	p.V168L	CMIP_ENST00000539778.2_Missense_Mutation_p.V74L|CMIP_ENST00000566513.1_3'UTR|CMIP_ENST00000398040.4_Missense_Mutation_p.V15L	NM_198390.2	NP_938204.2	Q8IY22	CMIP_HUMAN	c-Maf inducing protein	168						cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(5)|kidney(1)|lung(7)	13						ATATAAGAAAGTGCTGAGTAA	0.453																																						ENST00000537098.3																			0				endometrium(5)|kidney(1)|lung(7)	13						c.(502-504)Gtg>Ctg		c-Maf inducing protein							59	62	61					16																	81685832		1869	4094	5963	SO:0001583	missense	80790					cytoplasm|nucleus		g.chr16:81685832G>C	AB051481	CCDS54044.1, CCDS54045.1	16q23	2011-08-04			ENSG00000153815	ENSG00000153815			24319	protein-coding gene	gene with protein product		610112				11214970, 12939343	Standard	NM_030629		Approved		uc002fgp.3	Q8IY22		ENST00000537098.3:c.502G>C	16.37:g.81685832G>C	ENSP00000446100:p.Val168Leu					CMIP_ENST00000566513.1_3'UTR|CMIP_ENST00000398040.4_Missense_Mutation_p.V15L|CMIP_ENST00000539778.2_Missense_Mutation_p.V74L	p.V168L	NM_198390.2	NP_938204.2	Q8IY22	CMIP_HUMAN			4	574	+			134					Q9C0G9	Missense_Mutation	SNP	ENST00000537098.3	37	c.502G>C	CCDS54044.1	.	.	.	.	.	.	.	.	.	.	G	17.07	3.295613	0.60086	.	.	ENSG00000153815	ENST00000537098;ENST00000539778;ENST00000398040	T;T;T	0.09073	3.05;3.05;3.02	5.79	5.79	0.91817	.	0.000000	0.64402	D	0.000001	T	0.15132	0.0365	N	0.22421	0.69	0.58432	D	0.999999	P;P;B	0.47910	0.902;0.902;0.009	D;D;B	0.64595	0.927;0.927;0.012	T	0.10497	-1.0627	10	0.07813	T	0.8	.	18.2205	0.89899	0.0:0.0:1.0:0.0	.	15;74;168	Q8IY22-3;Q8IY22-2;Q8IY22	.;.;CMIP_HUMAN	L	168;74;74	ENSP00000446100:V168L;ENSP00000440401:V74L;ENSP00000381120:V74L	ENSP00000381120:V74L	V	+	1	0	CMIP	80243333	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.845000	0.86875	2.733000	0.93635	0.655000	0.94253	GTG		0.453	CMIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432399.2	NM_030629		12	27	0	0	0	1	0	12	27					C	81685832	G	C	81685832	3	2	341	1	0	0	0	0	1	0	0	0	3578	1029	36	5	538	5	CMIP	16	81685832	Missense_Mutation	SNP	G	TCGA-KK-A8ID-01A-11D-A364-08	23384390	81685832	8668921	57	17286	86	2									
CMIP	80790	broad.mit.edu	37	chr16	81685842	81685842	+	Missense_Mutation	SNP	A	A	C																															atataagaaagtgctgagtaAcccaagccgctgggaagttg																										TCGA-KK-A8ID-01A-11D-A364-08	TCGA-KK-A8ID-11A-12D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	434c8d21-e732-4485-a382-84e8abf8bdb5	686e0817-587f-49c3-b654-8141a09dd79b	g.chr16:81685842A>C	ENST00000537098.3	+	4	584	c.512A>C	c.(511-513)aAc>aCc	p.N171T	CMIP_ENST00000539778.2_Missense_Mutation_p.N77T|CMIP_ENST00000566513.1_3'UTR|CMIP_ENST00000398040.4_Missense_Mutation_p.N18T	NM_198390.2	NP_938204.2	Q8IY22	CMIP_HUMAN	c-Maf inducing protein	171						cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(5)|kidney(1)|lung(7)	13						GTGCTGAGTAACCCAAGCCGC	0.483																																						ENST00000537098.3																			0				endometrium(5)|kidney(1)|lung(7)	13						c.(511-513)aAc>aCc		c-Maf inducing protein							63	66	66					16																	81685842		1873	4094	5967	SO:0001583	missense	80790					cytoplasm|nucleus		g.chr16:81685842A>C	AB051481	CCDS54044.1, CCDS54045.1	16q23	2011-08-04			ENSG00000153815	ENSG00000153815			24319	protein-coding gene	gene with protein product		610112				11214970, 12939343	Standard	NM_030629		Approved		uc002fgp.3	Q8IY22		ENST00000537098.3:c.512A>C	16.37:g.81685842A>C	ENSP00000446100:p.Asn171Thr					CMIP_ENST00000566513.1_3'UTR|CMIP_ENST00000398040.4_Missense_Mutation_p.N18T|CMIP_ENST00000539778.2_Missense_Mutation_p.N77T	p.N171T	NM_198390.2	NP_938204.2	Q8IY22	CMIP_HUMAN			4	584	+			137					Q9C0G9	Missense_Mutation	SNP	ENST00000537098.3	37	c.512A>C	CCDS54044.1	.	.	.	.	.	.	.	.	.	.	A	16.72	3.201107	0.58234	.	.	ENSG00000153815	ENST00000537098;ENST00000539778;ENST00000398040	T;T	0.08984	3.03;3.03	5.79	5.79	0.91817	.	0.110413	0.64402	D	0.000015	T	0.08088	0.0202	L	0.29908	0.895	0.53688	D	0.999979	B;B;B	0.29085	0.232;0.232;0.116	B;B;B	0.29353	0.101;0.101;0.011	T	0.36187	-0.9758	10	0.27785	T	0.31	.	14.7065	0.69194	1.0:0.0:0.0:0.0	.	18;77;171	Q8IY22-3;Q8IY22-2;Q8IY22	.;.;CMIP_HUMAN	T	171;77;77	ENSP00000446100:N171T;ENSP00000440401:N77T	ENSP00000381120:N77T	N	+	2	0	CMIP	80243343	1.000000	0.71417	0.995000	0.50966	0.990000	0.78478	7.482000	0.81143	2.207000	0.71202	0.533000	0.62120	AAC		0.483	CMIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432399.2	NM_030629		12	27	0	0	0	1	0	12	27					C	81685842	A	C	81685842	3	2	341	1	0	0	0	0	1	0	0	0	3578	43	2	5	548	5	CMIP	16	81685842	Missense_Mutation	SNP	A	TCGA-KK-A8ID-01A-11D-A364-08	10	81685842	8668911	58	17287	86	2									
CDK12	51755	broad.mit.edu	37	chr17	37650848	37650848	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcccaatcacagccattcgtGaaatcaaaatccttcgtcag	13	10	5	13	2	3	1	3	1	0	0	7	1	5	1	3	0	1	0	3	0	4	2			TCGA-KK-A8ID-01A-11D-A364-08	TCGA-KK-A8ID-11A-12D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	434c8d21-e732-4485-a382-84e8abf8bdb5	686e0817-587f-49c3-b654-8141a09dd79b	g.chr17:37650848G>A	ENST00000447079.4	+	5	2353	c.2320G>A	c.(2320-2322)Gaa>Aaa	p.E774K	CDK12_ENST00000430627.2_Missense_Mutation_p.E774K	NM_015083.1|NM_016507.2	NP_055898.1|NP_057591.2	Q9NYV4	CDK12_HUMAN	cyclin-dependent kinase 12	774	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				mRNA processing (GO:0006397)|phosphorylation of RNA polymerase II C-terminal domain (GO:0070816)|protein autophosphorylation (GO:0046777)|regulation of MAP kinase activity (GO:0043405)|RNA splicing (GO:0008380)	cyclin K-CDK12 complex (GO:0002944)|nuclear cyclin-dependent protein kinase holoenzyme complex (GO:0019908)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cyclin binding (GO:0030332)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)			NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3)	70						AGCCATTCGTGAAATCAAAAT	0.398			"Mis, N, F"		serous ovarian					TCGA Ovarian(9;0.13)																												ENST00000447079.4				Rec	yes		17	17q12	51755	"Mis, N, F"	cyclin-dependent kinase 12			E			serous ovarian		0				NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3)	70						c.(2320-2322)Gaa>Aaa		cyclin-dependent kinase 12							82	72	75					17																	37650848		2203	4300	6503	SO:0001583	missense	51755				mRNA processing|phosphorylation of RNA polymerase II C-terminal domain|protein autophosphorylation|regulation of MAP kinase activity|RNA splicing	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck|nucleolus	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity	g.chr17:37650848G>A	AF227198	CCDS11337.1, CCDS45666.1	17q12	2011-10-25	2009-12-16	2009-12-16	ENSG00000167258	ENSG00000167258		"Cyclin-dependent kinases"	24224	protein-coding gene	gene with protein product	"CDC2 related protein kinase 7"	615514	"Cdc2-related kinase, arginine/serine-rich"	CRKRS		10048485, 11683387, 19884882	Standard	XM_005257456		Approved	CRK7, CRKR, KIAA0904	uc010cvv.3	Q9NYV4	OTTHUMG00000133214	ENST00000447079.4:c.2320G>A	17.37:g.37650848G>A	ENSP00000398880:p.Glu774Lys	TCGA Ovarian(9;0.13)				CDK12_ENST00000430627.2_Missense_Mutation_p.E774K	p.E774K	NM_015083.1|NM_016507.2	NP_055898.1|NP_057591.2	Q9NYV4	CDK12_HUMAN			5	2353	+			774			Protein kinase.		A7E2B2|B4DYX4|B9EIQ6|O94978	Missense_Mutation	SNP	ENST00000447079.4	37	c.2320G>A	CCDS11337.1	.	.	.	.	.	.	.	.	.	.	G	29.4	5.006655	0.93287	.	.	ENSG00000167258	ENST00000430627;ENST00000447079	D;D	0.84873	-1.91;-1.91	5.23	5.23	0.72850	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.49916	D	0.000136	D	0.95033	0.8392	H	0.95679	3.705	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.998	D;D;D	0.83275	0.996;0.996;0.994	D	0.96236	0.9172	10	0.87932	D	0	-15.0206	19.1644	0.93548	0.0:0.0:1.0:0.0	.	773;774;774	E7EUM9;Q9NYV4;Q9NYV4-2	.;CDK12_HUMAN;.	K	774	ENSP00000407720:E774K;ENSP00000398880:E774K	ENSP00000407720:E774K	E	+	1	0	CDK12	34904374	1.000000	0.71417	0.996000	0.52242	0.989000	0.77384	9.813000	0.99286	2.601000	0.87937	0.561000	0.74099	GAA		0.398	CDK12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256941.4	NM_016507		12	21	0	0	0	1	0	12	21					A	37650848	G	A	37650848	3	1	341	1	0	0	0	0	1	0	0	0	3128	1291	45	3	2338	3	CDK12	17	37650848	Missense_Mutation	SNP	G	TCGA-KK-A8ID-01A-11D-A364-08		37650848	43544362	59	17288											
CDK12	51755	broad.mit.edu	37	chr17	37676253	37676254	+	Frame_Shift_Del	DEL	TA	TA	-																															attggaccacatgctgacacTagatcctagtaagcggtgca																								rs574842243		TCGA-KK-A8ID-01A-11D-A364-08	TCGA-KK-A8ID-11A-12D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	434c8d21-e732-4485-a382-84e8abf8bdb5	686e0817-587f-49c3-b654-8141a09dd79b	g.chr17:37676253_37676254delTA	ENST00000447079.4	+	11	3041_3042	c.3008_3009delTA	c.(3007-3009)ctafs	p.L1003fs	CDK12_ENST00000430627.2_Frame_Shift_Del_p.L1003fs	NM_015083.1|NM_016507.2	NP_055898.1|NP_057591.2	Q9NYV4	CDK12_HUMAN	cyclin-dependent kinase 12	1003	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				mRNA processing (GO:0006397)|phosphorylation of RNA polymerase II C-terminal domain (GO:0070816)|protein autophosphorylation (GO:0046777)|regulation of MAP kinase activity (GO:0043405)|RNA splicing (GO:0008380)	cyclin K-CDK12 complex (GO:0002944)|nuclear cyclin-dependent protein kinase holoenzyme complex (GO:0019908)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cyclin binding (GO:0030332)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)			NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3)	70						ATGCTGACACTAGATCCTAGTA	0.45			"Mis, N, F"		serous ovarian					TCGA Ovarian(9;0.13)																												ENST00000447079.4				Rec	yes		17	17q12	51755	"Mis, N, F"	cyclin-dependent kinase 12			E			serous ovarian		0				NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3)	70						c.(3007-3009)cfs		cyclin-dependent kinase 12																																				SO:0001589	frameshift_variant	51755				mRNA processing|phosphorylation of RNA polymerase II C-terminal domain|protein autophosphorylation|regulation of MAP kinase activity|RNA splicing	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck|nucleolus	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity	g.chr17:37676253_37676254delTA	AF227198	CCDS11337.1, CCDS45666.1	17q12	2011-10-25	2009-12-16	2009-12-16	ENSG00000167258	ENSG00000167258		"Cyclin-dependent kinases"	24224	protein-coding gene	gene with protein product	"CDC2 related protein kinase 7"	615514	"Cdc2-related kinase, arginine/serine-rich"	CRKRS		10048485, 11683387, 19884882	Standard	XM_005257456		Approved	CRK7, CRKR, KIAA0904	uc010cvv.3	Q9NYV4	OTTHUMG00000133214	ENST00000447079.4:c.3008_3009delTA	17.37:g.37676253_37676254delTA	ENSP00000398880:p.Leu1003fs	TCGA Ovarian(9;0.13)				CDK12_ENST00000430627.2_Frame_Shift_Del_p.L1003fs	p.L1003fs	NM_015083.1|NM_016507.2	NP_055898.1|NP_057591.2	Q9NYV4	CDK12_HUMAN			11	3041_3042	+			1003			Protein kinase.		A7E2B2|B4DYX4|B9EIQ6|O94978	Frame_Shift_Del	DEL	ENST00000447079.4	37	c.3008_3009delTA	CCDS11337.1																																																																																				0.45	CDK12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256941.4	NM_016507		56	91						56	91	---	---	---	---	-	37676254	TA	-	37676253	7	5	341	1	0	1	0	1	0	0	0	0	3128	1522	53	0	3050	0	CDK12	17	37676253	Frame_Shift_Del	DEL	TA	TCGA-KK-A8ID-01A-11D-A364-08	25405	37676253	43518957	60	17289											
CDC27	996	broad.mit.edu	37	chr17	45234690	45234706	+	Frame_Shift_Del	DEL	CAGTTGCTAAAGTTCTG	CAGTTGCTAAAGTTCTG	-																															ttgtgcaagagttgggcagaCagttgctaaagttctgtaaa																								rs113608268|rs147617501|rs143453365		TCGA-KK-A8ID-01A-11D-A364-08	TCGA-KK-A8ID-11A-12D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	434c8d21-e732-4485-a382-84e8abf8bdb5	686e0817-587f-49c3-b654-8141a09dd79b	g.chr17:45234690_45234706delCAGTTGCTAAAGTTCTG	ENST00000066544.3	-	6	613_629	c.520_536delCAGAACTTTAGCAACTG	c.(520-537)cagaactttagcaactgtfs	p.QNFSNC174fs	CDC27_ENST00000531206.1_Frame_Shift_Del_p.QNFSNC174fs|CDC27_ENST00000528748.1_5'UTR|CDC27_ENST00000446365.2_Frame_Shift_Del_p.QNFSNC113fs|CDC27_ENST00000527547.1_Frame_Shift_Del_p.QNFSNC174fs	NM_001114091.1|NM_001256.3	NP_001107563.1|NP_001247.3	P30260	CDC27_HUMAN	cell division cycle 27	174					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell proliferation (GO:0008283)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cell cycle (GO:0000278)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	protein phosphatase binding (GO:0019903)			NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2)	90						GTTGGGCAGACAGTTGCTAAAGTTCTGTAAAGATGTG	0.387																																						ENST00000066544.3																			0				NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2)	90						c.(520-537)tfs		cell division cycle 27																																				SO:0001589	frameshift_variant	996				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule	protein phosphatase binding	g.chr17:45234690_45234706delCAGTTGCTAAAGTTCTG	U00001	CCDS11509.1, CCDS45720.1, CCDS74090.1	17q21.32	2013-01-17	2013-01-17		ENSG00000004897	ENSG00000004897		"Anaphase promoting complex subunits", "Tetratricopeptide (TTC) repeat domain containing"	1728	protein-coding gene	gene with protein product	"anaphase promoting complex subunit 3"	116946	"cell division cycle 27", "cell division cycle 27 homolog (S. cerevisiae)"	D0S1430E, D17S978E		8234252	Standard	XM_005257892		Approved	APC3, ANAPC3, NUC2	uc002ile.4	P30260	OTTHUMG00000166429	ENST00000066544.3:c.520_536delCAGAACTTTAGCAACTG	17.37:g.45234690_45234706delCAGTTGCTAAAGTTCTG	ENSP00000066544:p.Gln174fs					CDC27_ENST00000446365.2_Frame_Shift_Del_p.QNFSNC113fs|CDC27_ENST00000527547.1_Frame_Shift_Del_p.QNFSNC174fs|CDC27_ENST00000531206.1_Frame_Shift_Del_p.QNFSNC174fs|CDC27_ENST00000528748.1_5'UTR	p.QNFSNC174fs	NM_001114091.1|NM_001256.3	NP_001107563.1|NP_001247.3	P30260	CDC27_HUMAN			6	613_629	-			174					G3V1C4|Q16349|Q96F35	Frame_Shift_Del	DEL	ENST00000066544.3	37	c.520_536delCAGAACTTTAGCAACTG	CCDS11509.1																																																																																				0.387	CDC27-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389742.2			9	85						9	85	---	---	---	---	-	45234706	CAGTTGCTAAAGTTCTG	-	45234690	7	5	341	1	0	1	0	1	0	0	0	0	3066	478	17	0	2012	0	CDC27	17	45234690	Frame_Shift_Del	DEL	CAGTTGCTAAAGTTCTG	TCGA-KK-A8ID-01A-11D-A364-08	7558437	45234690	35960520	61	17290											
SPATA20	64847	broad.mit.edu	37	chr17	48626526	48626526	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgagtcggcttccgcacagtGttgctgagaatacgagaaca	11	8	12	10	4	0	2	0	1	0	2	2	5	1	2	1	1	3	4	1	1	3	3			TCGA-KK-A8ID-01A-11D-A364-08	TCGA-KK-A8ID-11A-12D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	434c8d21-e732-4485-a382-84e8abf8bdb5	686e0817-587f-49c3-b654-8141a09dd79b	g.chr17:48626526G>C	ENST00000356488.4	+	5	674	c.591G>C	c.(589-591)gtG>gtC	p.V197V	SPATA20_ENST00000006658.6_Silent_p.V213V|SPATA20_ENST00000393244.3_Silent_p.V153V|SPATA20_ENST00000511937.1_3'UTR	NM_001258372.1	NP_001245301.1	Q8TB22	SPT20_HUMAN	spermatogenesis associated 20	197					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	extracellular region (GO:0005576)	catalytic activity (GO:0003824)			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;9.38e-09)			TCCGCACAGTGTTGCTGAGAA	0.617																																						ENST00000006658.6																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24						c.(637-639)gtG>gtC		spermatogenesis associated 20							52	56	54					17																	48626526		2203	4300	6503	SO:0001819	synonymous_variant	64847				cell differentiation|mannose metabolic process|multicellular organismal development|spermatogenesis	extracellular region	mannose-6-phosphate isomerase activity|protein binding	g.chr17:48626526G>C		CCDS11571.1, CCDS58563.1, CCDS58564.1	17q21.33	2011-03-17			ENSG00000006282	ENSG00000006282			26125	protein-coding gene	gene with protein product	"hypothetical protein FLJ21347"	613939				12477932	Standard	NM_022827		Approved	FLJ21347, SSP411, Tisp78	uc002ird.3	Q8TB22	OTTHUMG00000162162	ENST00000356488.4:c.591G>C	17.37:g.48626526G>C						SPATA20_ENST00000511937.1_3'UTR|SPATA20_ENST00000393244.3_Silent_p.V153V|SPATA20_ENST00000356488.4_Silent_p.V197V	p.V213V	NM_022827.3	NP_073738.2	Q8TB22	SPT20_HUMAN	BRCA - Breast invasive adenocarcinoma(22;9.38e-09)		6	759	+	Breast(11;1.23e-18)		197					Q2TA99|Q2XUZ6|Q6P0P1|Q8WVW3|Q9H747	Silent	SNP	ENST00000356488.4	37	c.639G>C	CCDS58563.1																																																																																				0.617	SPATA20-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000367651.1	NM_022827		3	75	0	0	0	1	0	3	75					C	48626526	G	C	48626526	2	2	341	1	0	0	0	0	0	0	0	1	15005	1364	48	5		5	SPATA20	17	48626526	Silent	SNP	G	TCGA-KK-A8ID-01A-11D-A364-08	3391836	48626526	32568684	62	17291											
SETBP1	26040	broad.mit.edu	37	chr18	42532187	42532187	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcagacctggaggagctaaTcaccaagttccaagtgttca	12	8	11	10	0	2	1	2	0	0	1	3	3	3	3	3	3	1	4	3	3	3	3			TCGA-KK-A8ID-01A-11D-A364-08	TCGA-KK-A8ID-11A-12D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	434c8d21-e732-4485-a382-84e8abf8bdb5	686e0817-587f-49c3-b654-8141a09dd79b	g.chr18:42532187T>G	ENST00000282030.5	+	4	3178	c.2882T>G	c.(2881-2883)aTc>aGc	p.I961S		NM_015559.2	NP_056374.2	Q9Y6X0	SETBP_HUMAN	SET binding protein 1	961						nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	104				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		GAGGAGCTAATCACCAAGTTC	0.478									Schinzel-Giedion syndrome																													ENST00000282030.5																			0				NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	104						c.(2881-2883)aTc>aGc		SET binding protein 1							80	78	79					18																	42532187		2203	4300	6503	SO:0001583	missense	26040	Schinzel-Giedion syndrome	Familial Cancer Database	SGC, Schinzel-Giedion Midface Retraction syndrome		nucleus	DNA binding	g.chr18:42532187T>G	AB022660	CCDS11923.2, CCDS45859.1	18q21.1	2008-08-01			ENSG00000152217	ENSG00000152217			15573	protein-coding gene	gene with protein product		611060				11231286	Standard	NM_015559		Approved	SEB, KIAA0437	uc010dni.3	Q9Y6X0	OTTHUMG00000132613	ENST00000282030.5:c.2882T>G	18.37:g.42532187T>G	ENSP00000282030:p.Ile961Ser						p.I961S	NM_015559.2	NP_056374.2	Q9Y6X0	SETBP_HUMAN		Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)	4	3178	+			961					A6H8W5|Q6P6C3|Q9UEF3	Missense_Mutation	SNP	ENST00000282030.5	37	c.2882T>G	CCDS11923.2	.	.	.	.	.	.	.	.	.	.	T	16.99	3.273356	0.59649	.	.	ENSG00000152217	ENST00000282030	D	0.91295	-2.82	5.91	5.91	0.95273	.	0.054006	0.64402	D	0.000001	D	0.91549	0.7331	N	0.24115	0.695	0.44275	D	0.997139	D	0.76494	0.999	D	0.67382	0.951	D	0.93006	0.6427	10	0.87932	D	0	.	16.3512	0.83208	0.0:0.0:0.0:1.0	.	961	Q9Y6X0	SETBP_HUMAN	S	961	ENSP00000282030:I961S	ENSP00000282030:I961S	I	+	2	0	SETBP1	40786185	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.013000	0.88655	2.266000	0.75297	0.533000	0.62120	ATC		0.478	SETBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255854.4	NM_001130110		36	49	0	0	0	1	0	36	49					G	42532187	T	G	42532187	3	3	341	1	0	0	0	0	1	0	0	0	14129	1435	50	5	3085	5	SETBP1	18	42532187	Missense_Mutation	SNP	T	TCGA-KK-A8ID-01A-11D-A364-08		42532187	35545061	63	17292											
PTBP1	5725	broad.mit.edu	37	chr19	804112	804112	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tctagagtgatccacatccgGaagctccccatcgacgtcac	10	8	8	15	3	2	2	1	1	1	1	6	4	5	3	4	1	1	1	4	1	2	1			TCGA-KK-A8ID-01A-11D-A364-08	TCGA-KK-A8ID-11A-12D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	434c8d21-e732-4485-a382-84e8abf8bdb5	686e0817-587f-49c3-b654-8141a09dd79b	g.chr19:804112G>T	ENST00000349038.4	+	4	265	c.192G>T	c.(190-192)cgG>cgT	p.R64R	MIR4745_ENST00000577608.1_RNA|PTBP1_ENST00000394601.4_Silent_p.R64R|PTBP1_ENST00000356948.6_Silent_p.R64R|PTBP1_ENST00000350092.4_Intron	NM_031991.3	NP_114368.1	P26599	PTBP1_HUMAN	polypyrimidine tract binding protein 1	64	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				alternative mRNA splicing, via spliceosome (GO:0000380)|gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|negative regulation of muscle cell differentiation (GO:0051148)|negative regulation of RNA splicing (GO:0033119)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing (GO:0008380)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|poly-pyrimidine tract binding (GO:0008187)|pre-mRNA binding (GO:0036002)|RNA binding (GO:0003723)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(4)	19		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;0.000172)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TCCACATCCGGAAGCTCCCCA	0.562																																						ENST00000356948.6																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(4)	19						c.(190-192)cgG>cgT		polypyrimidine tract binding protein 1							74	68	70					19																	804112		2203	4300	6503	SO:0001819	synonymous_variant	5725				negative regulation of muscle cell differentiation|nuclear mRNA splicing, via spliceosome|regulation of alternative nuclear mRNA splicing, via spliceosome	heterogeneous nuclear ribonucleoprotein complex|nucleolus|nucleoplasm	mRNA binding|nucleotide binding|poly-pyrimidine tract binding|protein binding	g.chr19:804112G>T	X60648	CCDS32859.1, CCDS42456.1, CCDS45892.1	19p13.3	2013-07-16	2002-01-25	2002-01-25	ENSG00000011304	ENSG00000011304		"RNA binding motif (RRM) containing"	9583	protein-coding gene	gene with protein product	"heterogeneous nuclear ribonucleoprotein I"	600693	"polypyrimidine tract binding protein (heterogeneous nuclear ribonucleoprotein I)"	PTB		1906036, 11024286	Standard	NM_002819		Approved	HNRPI, HNRNP-I, PTB2, PTB3, PTB-1, PTB4, pPTB	uc002lpp.2	P26599		ENST00000349038.4:c.192G>T	19.37:g.804112G>T						PTBP1_ENST00000350092.4_Intron|PTBP1_ENST00000349038.4_Silent_p.R64R|PTBP1_ENST00000394601.4_Silent_p.R64R	p.R64R	NM_002819.4	NP_002810.1	P26599	PTBP1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	4	615	+		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;0.000172)|Hepatocellular(1079;0.137)|Renal(1328;0.228)	64			RRM 1.		Q9BUQ0	Silent	SNP	ENST00000349038.4	37	c.192G>T	CCDS32859.1																																																																																				0.562	PTBP1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457605.1			5	28	1	0	3.59834e-05	1	3.88242e-05	5	28					T	804112	G	T	804112	2	4	341	1	0	0	0	0	0	0	0	1	12725	1161	41	5		5	PTBP1	19	804112	Silent	SNP	G	TCGA-KK-A8ID-01A-11D-A364-08		804112	58324871	64	17293											
TMPRSS9	360200	broad.mit.edu	37	chr19	2410386	2410386	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggacgggaaggtggactcCtgccaggtgagcccccgatg	7	6	16	12	2	0	1	0	1	0	0	1	5	1	4	4	5	2	0	4	5	1	0			TCGA-KK-A8ID-01A-11D-A364-08	TCGA-KK-A8ID-11A-12D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	434c8d21-e732-4485-a382-84e8abf8bdb5	686e0817-587f-49c3-b654-8141a09dd79b	g.chr19:2410386C>A	ENST00000332578.3	+	8	1146	c.1146C>A	c.(1144-1146)tcC>tcA	p.S382S		NM_182973.1	NP_892018.1	Q7Z410	TMPS9_HUMAN	transmembrane protease, serine 9	382	Peptidase S1 1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				plasminogen activation (GO:0031639)	integral component of plasma membrane (GO:0005887)	serine-type endopeptidase activity (GO:0004252)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AGGTGGACTCCTGCCAGGTGA	0.567																																						ENST00000332578.3																			0				breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(1144-1146)tcC>tcA		transmembrane protease, serine 9							64	55	58					19																	2410386		2203	4300	6503	SO:0001819	synonymous_variant	360200				proteolysis	integral to plasma membrane	serine-type endopeptidase activity	g.chr19:2410386C>A	AJ488946	CCDS12088.1	19p13.3	2010-04-13						"Serine peptidases / Transmembrane"	30079	protein-coding gene	gene with protein product	"polyserase 1"	610477				12886014	Standard	NM_182973		Approved		uc010xgx.2	Q7Z410		ENST00000332578.3:c.1146C>A	19.37:g.2410386C>A							p.S382S	NM_182973.1	NP_892018.1	Q7Z410	TMPS9_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	8	1146	+			382			Peptidase S1 1.		Q6ZND6|Q7Z411	Silent	SNP	ENST00000332578.3	37	c.1146C>A	CCDS12088.1																																																																																				0.567	TMPRSS9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451330.3	NM_182973		24	22	1	0	5.35356e-11	1	6.27131e-11	24	22					A	2410386	C	A	2410386	2	1	341	1	0	0	0	0	0	0	0	1	16250	668	24	5		5	TMPRSS9	19	2410386	Silent	SNP	C	TCGA-KK-A8ID-01A-11D-A364-08	1606274	2410386	56718597	65	17294											
SLC25A23	79085	broad.mit.edu	37	chr19	6458224	6458224	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cttaccatcctggttccggtCaagactgtgaaacatgagca	11	10	9	11	1	1	3	1	2	0	1	3	3	3	3	3	2	3	2	3	2	3	2			TCGA-KK-A8ID-01A-11D-A364-08	TCGA-KK-A8ID-11A-12D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	434c8d21-e732-4485-a382-84e8abf8bdb5	686e0817-587f-49c3-b654-8141a09dd79b	g.chr19:6458224C>G	ENST00000301454.4	-	2	374	c.268G>C	c.(268-270)Gac>Cac	p.D90H	SLC25A23_ENST00000334510.5_Missense_Mutation_p.D90H	NM_024103.2	NP_077008.2	Q9BV35	SCMC3_HUMAN	solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 23	90	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.				adenine nucleotide transport (GO:0051503)|cellular response to calcium ion (GO:0071277)|regulation of cellular respiration (GO:0043457)|regulation of oxidative phosphorylation (GO:0002082)|regulation of sequestering of calcium ion (GO:0051282)|transmembrane transport (GO:0055085)|urea homeostasis (GO:0097274)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)	calcium ion binding (GO:0005509)			endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|pancreas(1)|skin(1)	17						TGGTTCCGGTCAAGACTGTGA	0.607																																						ENST00000301454.4																			0				endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|pancreas(1)|skin(1)	17						c.(268-270)Gac>Cac		solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 23							55	45	48					19																	6458224		2203	4300	6503	SO:0001583	missense	79085				transmembrane transport	integral to membrane|mitochondrial inner membrane	calcium ion binding	g.chr19:6458224C>G	AJ619962	CCDS32882.1	19p13.1	2014-02-06			ENSG00000125648	ENSG00000125648		"Solute carriers", "EF-hand domain containing"	19375	protein-coding gene	gene with protein product		608746				15123600	Standard	NM_024103		Approved	FLJ30339, MGC2615, APC2	uc002mex.1	Q9BV35	OTTHUMG00000180852	ENST00000301454.4:c.268G>C	19.37:g.6458224C>G	ENSP00000301454:p.Asp90His					SLC25A23_ENST00000334510.5_Missense_Mutation_p.D90H	p.D90H	NM_024103.2	NP_077008.2	Q9BV35	SCMC3_HUMAN			2	374	-			90			EF-hand 2.		B4DGB6|Q4LBC2|Q705K3|Q86Y43|Q8N2N4|Q96NQ4	Missense_Mutation	SNP	ENST00000301454.4	37	c.268G>C	CCDS32882.1	.	.	.	.	.	.	.	.	.	.	C	25.8	4.671601	0.88348	.	.	ENSG00000125648	ENST00000264088;ENST00000301454;ENST00000334510	D;D;D	0.95885	-3.84;-3.84;-3.84	4.53	4.53	0.55603	EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	D	0.98902	0.9628	H	0.99642	4.675	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.99113	1.0847	10	0.87932	D	0	-37.5704	16.0327	0.80593	0.0:1.0:0.0:0.0	.	90	Q9BV35	SCMC3_HUMAN	H	90	ENSP00000264088:D90H;ENSP00000301454:D90H;ENSP00000334537:D90H	ENSP00000264088:D90H	D	-	1	0	SLC25A23	6409224	1.000000	0.71417	0.999000	0.59377	0.959000	0.62525	7.020000	0.76419	2.071000	0.62044	0.462000	0.41574	GAC		0.607	SLC25A23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453325.1	NM_024103		10	46	0	0	0	1	0	10	46					G	6458224	C	G	6458224	3	3	341	1	0	0	0	0	1	0	0	0	14486	826	29	5	1174	5	SLC25A23	19	6458224	Missense_Mutation	SNP	C	TCGA-KK-A8ID-01A-11D-A364-08	4047838	6458224	52670759	66	17295											
DHPS	1725	broad.mit.edu	37	chr19	12790632	12790632	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cacctattgatcccgttctcCcggagctccttccccctgag	5	11	7	18	2	1	2	0	2	1	0	5	3	4	3	6	1	1	2	6	1	1	4			TCGA-KK-A8ID-01A-11D-A364-08	TCGA-KK-A8ID-11A-12D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	434c8d21-e732-4485-a382-84e8abf8bdb5	686e0817-587f-49c3-b654-8141a09dd79b	g.chr19:12790632C>A	ENST00000210060.7	-	3	612	c.477G>T	c.(475-477)cgG>cgT	p.R159R	CTD-2192J16.26_ENST00000593554.1_lincRNA|DHPS_ENST00000594424.1_Silent_p.R117R|DHPS_ENST00000351660.5_Silent_p.R159R|DHPS_ENST00000599481.1_5'UTR	NM_001930.3	NP_001921.1	P49366	DHYS_HUMAN	deoxyhypusine synthase	159					cellular protein metabolic process (GO:0044267)|deoxyhypusine biosynthetic process from spermidine (GO:0050983)|glucose homeostasis (GO:0042593)|peptidyl-lysine modification to peptidyl-hypusine (GO:0008612)|positive regulation of cell proliferation (GO:0008284)|positive regulation of T cell proliferation (GO:0042102)|post-translational protein modification (GO:0043687)|protein homotetramerization (GO:0051289)|translation (GO:0006412)	cytosol (GO:0005829)	deoxyhypusine synthase activity (GO:0034038)			central_nervous_system(1)|kidney(1)|large_intestine(3)|liver(1)|lung(2)	8						TCCCGTTCTCCCGGAGCTCCT	0.602																																						ENST00000210060.7																			0				central_nervous_system(1)|kidney(1)|large_intestine(3)|liver(1)|lung(2)	8						c.(475-477)cgG>cgT		deoxyhypusine synthase	Sulfadoxine(DB01299)						82	83	83					19																	12790632		2203	4300	6503	SO:0001819	synonymous_variant	1725				peptidyl-lysine modification to hypusine|positive regulation of cell proliferation|post-translational protein modification|spermidine catabolic process to deoxyhypusine, using deoxyhypusine synthase|translation	cytosol	deoxyhypusine synthase activity|protein binding	g.chr19:12790632C>A	U79262	CCDS12276.1, CCDS12277.1, CCDS59354.1	19p13.2	2011-11-24			ENSG00000095059	ENSG00000095059			2869	protein-coding gene	gene with protein product	"migration-inducing gene 13"	600944				7673224	Standard	NM_001930		Approved	MIG13	uc002muh.2	P49366		ENST00000210060.7:c.477G>T	19.37:g.12790632C>A						DHPS_ENST00000599481.1_5'UTR|DHPS_ENST00000594424.1_Silent_p.R117R|DHPS_ENST00000351660.5_Silent_p.R159R	p.R159R	NM_001930.3	NP_001921.1	P49366	DHYS_HUMAN			3	612	-			159					A8K688|M0R1I5|Q13184|Q13276|Q9UDG0	Silent	SNP	ENST00000210060.7	37	c.477G>T	CCDS12276.1																																																																																				0.602	DHPS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462708.1	NM_001930		18	56	1	0	8.34094e-07	1	9.24266e-07	18	56					A	12790632	C	A	12790632	2	1	341	1	0	0	0	0	0	0	0	1	4485	610	22	5		5	DHPS	19	12790632	Silent	SNP	C	TCGA-KK-A8ID-01A-11D-A364-08	6332408	12790632	46338351	67	17296											
IDH3B	3420	broad.mit.edu	37	chr20	2639480	2639480	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gccgcccatgtctcgagtccGcacctacagccaccaccggc	7	5	9	20	4	1	0	0	0	1	0	3	1	2	0	7	1	2	1	7	1	1	1	rs377682152		TCGA-KK-A8ID-01A-11D-A364-08	TCGA-KK-A8ID-11A-12D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	434c8d21-e732-4485-a382-84e8abf8bdb5	686e0817-587f-49c3-b654-8141a09dd79b	g.chr20:2639480G>A	ENST00000380843.4	-	12	1105	c.1075C>T	c.(1075-1077)Cgg>Tgg	p.R359W	SNORD57_ENST00000448188.1_RNA|IDH3B_ENST00000488299.1_5'UTR|SNORD86_ENST00000391196.1_RNA|IDH3B_ENST00000380851.5_Intron|SNORD56_ENST00000413522.1_RNA	NM_006899.3	NP_008830.2	O43837	IDH3B_HUMAN	isocitrate dehydrogenase 3 (NAD+) beta	359					2-oxoglutarate metabolic process (GO:0006103)|cellular metabolic process (GO:0044237)|isocitrate metabolic process (GO:0006102)|NADH metabolic process (GO:0006734)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	electron carrier activity (GO:0009055)|isocitrate dehydrogenase (NAD+) activity (GO:0004449)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)			breast(1)|endometrium(3)|kidney(2)|lung(7)|prostate(1)	14						TCTCGAGTCCGCACCTACAGC	0.547																																						ENST00000380843.4																			0				breast(1)|endometrium(3)|kidney(2)|lung(7)|prostate(1)	14						c.(1075-1077)Cgg>Tgg		isocitrate dehydrogenase 3 (NAD+) beta	NADH(DB00157)	G	TRP/ARG,,TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	69	63	65		1075,,619	3.8	1	20		65	1,8599	1.2+/-3.3	0,1,4299	no	missense,intron,missense	IDH3B	NM_006899.2,NM_174855.1,NM_174856.1	101,,101	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	benign,,benign	359/386,,207/234	2639480	2,13004	2203	4300	6503	SO:0001583	missense	3420				isocitrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix	electron carrier activity|isocitrate dehydrogenase (NAD+) activity|magnesium ion binding|NAD binding	g.chr20:2639480G>A		CCDS13031.1, CCDS13032.1, CCDS74696.1	20p13	2013-02-14			ENSG00000101365	ENSG00000101365	1.1.1.41		5385	protein-coding gene	gene with protein product		604526				10575215	Standard	NM_006899		Approved	RP46	uc002wgp.4	O43837	OTTHUMG00000031699	ENST00000380843.4:c.1075C>T	20.37:g.2639480G>A	ENSP00000370223:p.Arg359Trp					IDH3B_ENST00000488299.1_5'UTR|IDH3B_ENST00000380851.5_Intron	p.R359W	NM_006899.3	NP_008830.2	O43837	IDH3B_HUMAN			12	1105	-			359					B2RDR1|D3DVX2|D3DVX3|O95106|Q5JXS8|Q9NQ06|Q9NQ07|Q9NUZ0|Q9UEX0|Q9UG99	Missense_Mutation	SNP	ENST00000380843.4	37	c.1075C>T	CCDS13032.1	.	.	.	.	.	.	.	.	.	.	G	10.32	1.317631	0.23994	2.27E-4	1.16E-4	ENSG00000101365	ENST00000380843;ENST00000435594	T	0.57273	0.41	4.74	3.8	0.43715	Isopropylmalate dehydrogenase-like domain (2);	0.120606	0.56097	D	0.000021	T	0.63355	0.2504	M	0.93939	3.475	0.80722	D	1	B;P	0.38280	0.354;0.625	B;B	0.39027	0.169;0.288	T	0.71300	-0.4634	10	0.87932	D	0	-1.5054	10.6754	0.45783	0.0935:0.0:0.9065:0.0	.	207;359	O43837-3;O43837	.;IDH3B_HUMAN	W	359;207	ENSP00000370223:R359W	ENSP00000370223:R359W	R	-	1	2	IDH3B	2587480	1.000000	0.71417	1.000000	0.80357	0.019000	0.09904	6.217000	0.72218	1.230000	0.43646	-0.237000	0.12165	CGG		0.547	IDH3B-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000077613.1			4	60	0	0	0	1	0	4	60					A	2639480	G	A	2639480	3	1	341	1	0	0	0	0	1	0	0	0	7497	1086	38	1	171	1	IDH3B	20	2639480	Missense_Mutation	SNP	G	TCGA-KK-A8ID-01A-11D-A364-08		2639480	60386040	68	17297											
KCNB1	3745	broad.mit.edu	37	chr20	47990861	47990861	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aactcagagaagttattgacGatgatggggatgggaagagc	14	8	15	4	1	1	4	1	2	0	2	1	8	1	6	0	3	2	1	0	3	4	2			TCGA-KK-A8ID-01A-11D-A364-08	TCGA-KK-A8ID-11A-12D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	434c8d21-e732-4485-a382-84e8abf8bdb5	686e0817-587f-49c3-b654-8141a09dd79b	g.chr20:47990861G>A	ENST00000371741.4	-	2	1402	c.1236C>T	c.(1234-1236)atC>atT	p.I412I		NM_004975.2	NP_004966.1	Q14721	KCNB1_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 1	412					energy reserve metabolic process (GO:0006112)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|dendrite membrane (GO:0032590)|neuronal cell body membrane (GO:0032809)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|outward rectifier potassium channel activity (GO:0015271)			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1)	53			BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		Dalfampridine(DB06637)	AGTTATTGACGATGATGGGGA	0.512																																						ENST00000371741.4																			0				central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1)	53						c.(1234-1236)atC>atT		potassium voltage-gated channel, Shab-related subfamily, member 1							77	77	77					20																	47990861		2203	4300	6503	SO:0001819	synonymous_variant	3745				energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity	g.chr20:47990861G>A	AF026005	CCDS13418.1	20q13.2	2012-07-05			ENSG00000158445	ENSG00000158445		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6231	protein-coding gene	gene with protein product		600397				7774931, 16382104	Standard	NM_004975		Approved	Kv2.1	uc002xur.1	Q14721	OTTHUMG00000033051	ENST00000371741.4:c.1236C>T	20.37:g.47990861G>A							p.I412I	NM_004975.2	NP_004966.1	Q14721	KCNB1_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		2	1402	-			412					Q14193	Silent	SNP	ENST00000371741.4	37	c.1236C>T	CCDS13418.1																																																																																				0.512	KCNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080374.3	NM_004975		86	54	0	0	0	1	0	86	54					A	47990861	G	A	47990861	2	1	341	1	0	0	0	0	0	0	0	1	8012	1048	37	2		2	KCNB1	20	47990861	Silent	SNP	G	TCGA-KK-A8ID-01A-11D-A364-08	45351381	47990861	15034659	69	17298											
APOBEC3G	60489	broad.mit.edu	37	chr22	39477231	39477231	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgaagatcatgaattatgaCggtgagaagtgggaggttca	14	10	14	3	1	2	5	2	4	0	2	2	7	2	6	0	3	0	1	0	3	4	2			TCGA-KK-A8ID-01A-11D-A364-08	TCGA-KK-A8ID-11A-12D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	434c8d21-e732-4485-a382-84e8abf8bdb5	686e0817-587f-49c3-b654-8141a09dd79b	g.chr22:39477231C>T	ENST00000407997.3	+	3	822	c.465C>T	c.(463-465)gaC>gaT	p.D155D	APOBEC3G_ENST00000452957.2_Splice_Site_p.D155D|APOBEC3G_ENST00000461827.1_3'UTR	NM_021822.3	NP_068594.1	Q9HC16	ABC3G_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3G	155					base conversion or substitution editing (GO:0016553)|cytidine deamination (GO:0009972)|defense response to virus (GO:0051607)|DNA cytosine deamination (GO:0070383)|innate immune response (GO:0045087)|negative regulation of single stranded viral RNA replication via double stranded DNA intermediate (GO:0045869)|negative regulation of transposition (GO:0010529)|negative regulation of viral genome replication (GO:0045071)|negative regulation of viral process (GO:0048525)|positive regulation of defense response to virus by host (GO:0002230)|viral process (GO:0016032)	apolipoprotein B mRNA editing enzyme complex (GO:0030895)|cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|ribonucleoprotein complex (GO:0030529)	cytidine deaminase activity (GO:0004126)|deoxycytidine deaminase activity (GO:0047844)|protein homodimerization activity (GO:0042803)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			central_nervous_system(1)|large_intestine(4)|lung(5)|skin(1)|stomach(1)	12	Melanoma(58;0.04)					TGAATTATGACGGTGAGAAGT	0.542																																						ENST00000407997.3																			0				central_nervous_system(1)|large_intestine(4)|lung(5)|skin(1)|stomach(1)	12						c.e3+1		apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3G							71	72	72					22																	39477231		2203	4300	6503	SO:0001630	splice_region_variant	60489							g.chr22:39477231C>T	AF182420	CCDS13984.1	22q13.1-q13.2	2008-05-15			ENSG00000239713	ENSG00000239713		"Apolipoprotein B mRNA editing enzymes"	17357	protein-coding gene	gene with protein product		607113				11863358	Standard	NM_021822		Approved	CEM15, MDS019, dJ494G10.1, FLJ12740, bK150C2.7		Q9HC16	OTTHUMG00000151081	ENST00000407997.3:c.466+1C>T	22.37:g.39477231C>T						APOBEC3G_ENST00000452957.2_Splice_Site_p.D155_splice|APOBEC3G_ENST00000461827.1_3'UTR	p.D155_splice	NM_021822.3	NP_068594.1					3	822	+	Melanoma(58;0.04)							B2RDR9|Q45F02|Q5TF77|Q7Z2N1|Q7Z2N4|Q9H9H8	Splice_Site	SNP	ENST00000407997.3	37	c.466_splice	CCDS13984.1																																																																																				0.542	APOBEC3G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321219.1	NM_021822	Silent	4	55	0	0	0	1	0	4	55					T	39477231	C	T	39477231	5	4	341	1	0	0	0	0	0	0	1	0	794	550	19	1	475	1	APOBEC3G	22	39477231	Splice_Site	SNP	C	TCGA-KK-A8ID-01A-11D-A364-08		39477231	11827335	70	17299											
SAPS2	9701	broad.mit.edu	37	chr22	50875995	50875995	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgtggatcagtttggcttcAatgatgaggagtttgccgac	8	13	13	7	2	2	2	2	2	0	0	3	5	2	4	1	3	1	3	1	3	1	3			TCGA-KK-A8ID-01A-11D-A364-08	TCGA-KK-A8ID-11A-12D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	434c8d21-e732-4485-a382-84e8abf8bdb5	686e0817-587f-49c3-b654-8141a09dd79b	g.chr22:50875995A>G	ENST00000216061.5	+	17	2114	c.1744A>G	c.(1744-1746)Aat>Gat	p.N582D	PPP6R2_ENST00000395744.3_Missense_Mutation_p.N555D|PPP6R2_ENST00000359139.3_Missense_Mutation_p.N555D|PPP6R2_ENST00000395741.3_Missense_Mutation_p.N556D			O75170	PP6R2_HUMAN	protein phosphatase 6, regulatory subunit 2	582						cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(6)|ovary(2)|skin(1)|urinary_tract(1)	22						GTTTGGCTTCAATGATGAGGA	0.597																																						ENST00000359139.3																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(6)|ovary(2)|skin(1)|urinary_tract(1)	22						c.(1663-1665)Aat>Gat		protein phosphatase 6, regulatory subunit 2							133	109	117					22																	50875995		2203	4300	6503	SO:0001583	missense	9701					cytoplasm|intracellular membrane-bounded organelle	protein binding	g.chr22:50875995A>G	AB014585	CCDS33681.1, CCDS56235.1, CCDS56236.1, CCDS74881.1	22q13.33	2012-04-17	2010-06-28	2010-06-28	ENSG00000100239	ENSG00000100239		"Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits"	19253	protein-coding gene	gene with protein product		610877	"KIAA0685", "SAPS domain family, member 2"	KIAA0685, SAPS2		16769727	Standard	NM_014678		Approved	dJ579N16.1, SAP190	uc003blc.3	O75170	OTTHUMG00000150199	ENST00000216061.5:c.1744A>G	22.37:g.50875995A>G	ENSP00000216061:p.Asn582Asp					PPP6R2_ENST00000216061.5_Missense_Mutation_p.N582D|PPP6R2_ENST00000395741.3_Missense_Mutation_p.N556D|PPP6R2_ENST00000395744.3_Missense_Mutation_p.N555D	p.N555D	NM_001242898.1|NM_001242899.1|NM_001242900.1|NM_014678.4	NP_001229827.1|NP_001229828.1|NP_001229829.1|NP_055493.2	O75170	PP6R2_HUMAN			15	2057	+			582					A6PVG3|B7Z7T3|Q5U5P3|Q7Z2L2|Q7Z5G5|Q7Z731|Q9UGB9	Missense_Mutation	SNP	ENST00000216061.5	37	c.1663A>G		.	.	.	.	.	.	.	.	.	.	A	27.6	4.847255	0.91277	.	.	ENSG00000100239	ENST00000359139;ENST00000395741;ENST00000395744;ENST00000216061	T;T;T;T	0.37584	1.22;1.22;1.22;1.19	5.13	5.13	0.70059	.	0.044760	0.85682	D	0.000000	T	0.55593	0.1930	M	0.72118	2.19	0.52099	D	0.999942	D;D;D;P;D;P	0.61080	0.989;0.981;0.968;0.701;0.981;0.701	P;P;P;P;P;P	0.61275	0.713;0.886;0.773;0.474;0.886;0.474	T	0.59643	-0.7416	10	0.59425	D	0.04	-17.4329	13.92	0.63926	1.0:0.0:0.0:0.0	.	114;582;582;556;555;555	F2Z3M7;O75170-5;O75170;O75170-3;O75170-4;O75170-2	.;.;PP6R2_HUMAN;.;.;.	D	555;556;555;582	ENSP00000352051:N555D;ENSP00000379090:N556D;ENSP00000379093:N555D;ENSP00000216061:N582D	ENSP00000216061:N582D	N	+	1	0	PPP6R2	49222861	1.000000	0.71417	0.972000	0.41901	0.861000	0.49209	9.085000	0.94083	1.939000	0.56221	0.379000	0.24179	AAT		0.597	PPP6R2-004	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000316809.1	NM_014678		17	25	0	0	0	1	0	17	25					G	50875995	A	G	50875995	3	3	341	1	0	0	0	0	1	0	0	0	13837	130	5	4	1713	4	SAPS2	22	50875995	Missense_Mutation	SNP	A	TCGA-KK-A8ID-01A-11D-A364-08	11398764	50875995	428571	71	17300											
FAM47A	158724	broad.mit.edu	37	chrX	34148192	34148192	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aatccttaaaggcaattggtCcataaagatcgtcaagaacg	16	9	8	8	2	1	2	1	0	0	2	4	2	3	2	2	2	1	1	2	2	8	3			TCGA-KK-A8ID-01A-11D-A364-08	TCGA-KK-A8ID-11A-12D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	434c8d21-e732-4485-a382-84e8abf8bdb5	686e0817-587f-49c3-b654-8141a09dd79b	g.chrX:34148192C>A	ENST00000346193.3	-	1	2255	c.2204G>T	c.(2203-2205)gGa>gTa	p.G735V		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	735										NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						GGCAATTGGTCCATAAAGATC	0.423																																						ENST00000346193.3																			0				NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						c.(2203-2205)gGa>gTa		family with sequence similarity 47, member A							133	128	129					X																	34148192		2202	4300	6502	SO:0001583	missense	158724							g.chrX:34148192C>A	BC026171	CCDS43926.1	Xp21.1	2004-08-09			ENSG00000185448	ENSG00000185448			29962	protein-coding gene	gene with protein product	"similar to hypothetical protein FLJ35782"					12477932	Standard	NM_203408		Approved	MGC27003	uc004ddg.3	Q5JRC9	OTTHUMG00000021339	ENST00000346193.3:c.2204G>T	X.37:g.34148192C>A	ENSP00000345029:p.Gly735Val						p.G735V	NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN			1	2255	-			735					A8K8I9|Q8TAA0	Missense_Mutation	SNP	ENST00000346193.3	37	c.2204G>T	CCDS43926.1	.	.	.	.	.	.	.	.	.	.	C	12.10	1.836109	0.32421	.	.	ENSG00000185448	ENST00000346193	T	0.25414	1.8	1.17	1.17	0.20885	.	.	.	.	.	T	0.47838	0.1467	M	0.85373	2.75	0.40338	D	0.979	D	0.89917	1.0	D	0.91635	0.999	T	0.50206	-0.8855	9	0.87932	D	0	.	5.3637	0.16101	0.0:1.0:0.0:0.0	.	735	Q5JRC9	FA47A_HUMAN	V	735	ENSP00000345029:G735V	ENSP00000345029:G735V	G	-	2	0	FAM47A	34058113	0.908000	0.30866	0.632000	0.29296	0.084000	0.17831	0.004000	0.13106	0.880000	0.35969	0.544000	0.68410	GGA		0.423	FAM47A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056205.1	NM_203408		9	69	1	0	6.40141e-05	1	6.81709e-05	9	69					A	34148192	C	A	34148192	3	1	341	1	0	0	0	0	1	0	0	0	5569	855	30	5	175	5	FAM47A	23	34148192	Missense_Mutation	SNP	C	TCGA-KK-A8ID-01A-11D-A364-08		34148192	121122368	72	17301											
CHRDL1	91851	broad.mit.edu	37	chrX	109963154	109963154	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agaccacaatacacgtttccCtcctgccaaggagaaacaga	15	6	7	13	1	0	3	0	0	0	3	2	4	2	3	4	1	3	1	4	1	4	2			TCGA-KK-A8ID-01A-11D-A364-08	TCGA-KK-A8ID-11A-12D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	434c8d21-e732-4485-a382-84e8abf8bdb5	686e0817-587f-49c3-b654-8141a09dd79b	g.chrX:109963154C>T	ENST00000372045.1	-	6	560	c.429G>A	c.(427-429)gaG>gaA	p.E143E	CHRDL1_ENST00000218054.4_Silent_p.E149E|CHRDL1_ENST00000444321.2_Silent_p.E149E|CHRDL1_ENST00000372042.1_Silent_p.E150E|CHRDL1_ENST00000394797.4_Silent_p.E149E|CHRDL1_ENST00000434224.1_Intron|CHRDL1_ENST00000482160.1_Intron			Q9BU40	CRDL1_HUMAN	chordin-like 1	143	VWFC 2. {ECO:0000255|PROSITE- ProRule:PRU00220}.				BMP signaling pathway (GO:0030509)|cell differentiation (GO:0030154)|compound eye development (GO:0048749)|eye development (GO:0001654)|negative regulation of BMP signaling pathway (GO:0030514)|nervous system development (GO:0007399)|ossification (GO:0001503)	extracellular region (GO:0005576)				endometrium(1)|large_intestine(12)|liver(1)|lung(15)|prostate(1)|skin(1)	31						ACACGTTTCCCTCCTGCCAAG	0.463																																						ENST00000218054.4																			0				endometrium(1)|large_intestine(12)|liver(1)|lung(15)|prostate(1)|skin(1)	31						c.(445-447)gaG>gaA		chordin-like 1							89	75	80					X																	109963154		2203	4300	6503	SO:0001819	synonymous_variant	91851				BMP signaling pathway|cell differentiation|nervous system development|ossification	extracellular region		g.chrX:109963154C>T	AL049176	CCDS14553.1, CCDS48148.1, CCDS48149.1, CCDS48150.1, CCDS48148.2	Xq23	2014-01-31			ENSG00000101938	ENSG00000101938			29861	protein-coding gene	gene with protein product		300350	"megalocornea 1 (X-linked)"	MGC1		11441185, 11118896, 22284829	Standard	NM_001143981		Approved	NRLN1, CHL	uc004eow.3	Q9BU40	OTTHUMG00000022199	ENST00000372045.1:c.429G>A	X.37:g.109963154C>T						CHRDL1_ENST00000434224.1_Intron|CHRDL1_ENST00000482160.1_Intron|CHRDL1_ENST00000372042.1_Silent_p.E150E|CHRDL1_ENST00000372045.1_Silent_p.E143E|CHRDL1_ENST00000394797.4_Silent_p.E149E|CHRDL1_ENST00000444321.2_Silent_p.E149E	p.E149E	NM_001143981.1|NM_001143982.1|NM_145234.3	NP_001137453.1|NP_001137454.1|NP_660277.2	Q9BU40	CRDL1_HUMAN			6	643	-			143			VWFC 2.		B1AKD0|B4DMP3|D3DUY6|E9PGS5|Q539E4|Q9Y3H7	Silent	SNP	ENST00000372045.1	37	c.447G>A																																																																																					0.463	CHRDL1-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000057912.1	NM_145234		22	6	0	0	0	1	0	22	6					T	109963154	C	T	109963154	2	4	341	1	0	0	0	0	0	0	0	1	3373	680	24	3		3	CHRDL1	23	109963154	Silent	SNP	C	TCGA-KK-A8ID-01A-11D-A364-08	75814962	109963154	45307406	73	17302											
TNFRSF18	8784	broad.mit.edu	37	chr1	1139318	1139318	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agcttctggcgtcttcggtcGacggcggcacctccagcagc	5	8	13	15	5	2	0	0	0	2	0	5	1	3	0	2	4	3	3	2	4	0	2			TCGA-KK-A8IF-01A-11D-A364-08	TCGA-KK-A8IF-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0af96576-f308-4fec-bda0-f431f6531409	727485ca-631f-41a3-8f98-7450503b45f0	g.chr1:1139318G>A	ENST00000379268.2	-	5	751	c.632C>T	c.(631-633)tCg>tTg	p.S211L	TNFRSF18_ENST00000486728.1_Missense_Mutation_p.S139L|TNFRSF18_ENST00000379265.5_Missense_Mutation_p.S204L|TNFRSF18_ENST00000328596.6_Nonsense_Mutation_p.R141*	NM_004195.2|NM_148902.1	NP_004186.1|NP_683700.1	Q9Y5U5	TNR18_HUMAN	tumor necrosis factor receptor superfamily, member 18	211					apoptotic process (GO:0006915)|negative regulation of apoptotic process (GO:0043066)|signal transduction (GO:0007165)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	tumor necrosis factor-activated receptor activity (GO:0005031)			lung(1)	1	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;3.73e-36)|OV - Ovarian serous cystadenocarcinoma(86;1.01e-21)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;4.22e-05)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		GTCTTCGGTCGACGGCGGCAC	0.697																																					GBM(157;472 1934 13810 14591 35952)	ENST00000328596.6																			0				lung(1)	1						c.(421-423)Cga>Tga		tumor necrosis factor receptor superfamily, member 18							14	18	17					1																	1139318		2174	4284	6458	SO:0001583	missense	8784				anti-apoptosis|apoptosis	extracellular region|integral to plasma membrane	tumor necrosis factor receptor activity	g.chr1:1139318G>A	AF125304	CCDS9.1, CCDS10.1, CCDS30552.1	1p36.3	2011-08-11			ENSG00000186891	ENSG00000186891		"Tumor necrosis factor receptor superfamily", "CD molecules"	11914	protein-coding gene	gene with protein product		603905				9177197, 10037686	Standard	NM_004195		Approved	AITR, GITR, CD357	uc001add.3	Q9Y5U5	OTTHUMG00000001414	ENST00000379268.2:c.632C>T	1.37:g.1139318G>A	ENSP00000368570:p.Ser211Leu					TNFRSF18_ENST00000379265.5_Missense_Mutation_p.S204L|TNFRSF18_ENST00000486728.1_Missense_Mutation_p.S139L|TNFRSF18_ENST00000379268.2_Missense_Mutation_p.S211L	p.R141*	NM_148901.1	NP_683699.1	Q9Y5U5	TNR18_HUMAN		Epithelial(90;3.73e-36)|OV - Ovarian serous cystadenocarcinoma(86;1.01e-21)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;4.22e-05)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)	4	420	-	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)	0					B1AME1|O95851|Q5U0I4|Q9NYJ9	Nonsense_Mutation	SNP	ENST00000379268.2	37	c.421C>T	CCDS10.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.35|13.35	2.211271|2.211271	0.39102|0.39102	.|.	.|.	ENSG00000186891|ENSG00000186891	ENST00000328596|ENST00000379268;ENST00000379265	.|T;T	.|0.59224	.|0.62;0.28	3.24|3.24	1.1|1.1	0.20463|0.20463	.|.	1.790560|.	0.03227|.	N|.	0.178442|.	.|T	.|0.23572	.|0.0570	.|.	.|.	.|.	0.09310|0.09310	N|N	1|1	.|P;P	.|0.42757	.|0.789;0.789	.|B;B	.|0.27170	.|0.077;0.077	.|T	.|0.11372	.|-1.0590	.|8	0.02654|0.10377	T|T	1|0.69	-2.1458|-2.1458	2.9266|2.9266	0.05786|0.05786	0.1724:0.0:0.5667:0.2609|0.1724:0.0:0.5667:0.2609	.|.	.|211;204	.|Q9Y5U5;B1AME3	.|TNR18_HUMAN;.	X|L	141|211;204	.|ENSP00000368570:S211L;ENSP00000368567:S204L	ENSP00000328207:R141X|ENSP00000368567:S204L	R|S	-|-	1|2	2|0	TNFRSF18|TNFRSF18	1129181|1129181	0.001000|0.001000	0.12720|0.12720	0.001000|0.001000	0.08648|0.08648	0.003000|0.003000	0.03518|0.03518	0.643000|0.643000	0.24750|0.24750	0.272000|0.272000	0.22027|0.22027	0.643000|0.643000	0.83706|0.83706	CGA|TCG		0.697	TNFRSF18-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000004083.2	NM_004195		6	6	0	0	0	1	0	6	6					A	1139318	G	A	1139318	3	1	342	1	0	0	0	0	1	0	0	0	16288	1068	37	2	350	2	TNFRSF18	1	1139318	Missense_Mutation	SNP	G	TCGA-KK-A8IF-01A-11D-A364-08		1139318	248111303	1	17303											
C1orf173	127254	broad.mit.edu	37	chr1	75038381	75038381	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gccctccgaaacctgcatccGgcttgcctctgcctctcctg	4	10	8	19	2	2	0	0	0	2	0	5	1	4	0	7	1	4	2	7	1	1	1			TCGA-KK-A8IF-01A-11D-A364-08	TCGA-KK-A8IF-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0af96576-f308-4fec-bda0-f431f6531409	727485ca-631f-41a3-8f98-7450503b45f0	g.chr1:75038381G>T	ENST00000326665.5	-	14	3231	c.3013C>A	c.(3013-3015)Cgg>Agg	p.R1005R	C1orf173_ENST00000433746.2_5'UTR	NM_001002912.4	NP_001002912.4	Q5RHP9	ERIC3_HUMAN		1005	Glu-rich.									NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						ACCTGCATCCGGCTTGCCTCT	0.542																																						ENST00000326665.5																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						c.(3013-3015)Cgg>Agg		chromosome 1 open reading frame 173							101	92	95					1																	75038381		2203	4300	6503	SO:0001819	synonymous_variant	127254							g.chr1:75038381G>T																												ENST00000326665.5:c.3013C>A	1.37:g.75038381G>T						C1orf173_ENST00000433746.2_5'UTR	p.R1005R	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN			14	3231	-			1005			Glu-rich.		Q68DL8|Q6GMR8|Q6ZSF9|Q8ND41	Silent	SNP	ENST00000326665.5	37	c.3013C>A	CCDS30755.1																																																																																				0.542	C1orf173-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026516.1			29	44	1	0	4.87955e-14	1	5.30386e-14	29	44					T	75038381	G	T	75038381	2	4	342	1	0	0	0	0	0	0	0	1	2014	1115	39	5		5	C1orf173	1	75038381	Silent	SNP	G	TCGA-KK-A8IF-01A-11D-A364-08	73899063	75038381	174212240	2	17304											
TYW3	127253	broad.mit.edu	37	chr1	75229587	75229589	+	In_Frame_Del	DEL	CTG	CTG	-																															tttcttcacaggttttacaaCtgcctacagcatgctttgga																								rs554797959|rs199716605	byFrequency	TCGA-KK-A8IF-01A-11D-A364-08	TCGA-KK-A8IF-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0af96576-f308-4fec-bda0-f431f6531409	727485ca-631f-41a3-8f98-7450503b45f0	g.chr1:75229587_75229589delCTG	ENST00000370867.3	+	6	659_661	c.570_572delCTG	c.(568-573)aactgc>aac	p.C191del	TYW3_ENST00000457880.2_In_Frame_Del_p.C158del|TYW3_ENST00000467646.1_3'UTR|TYW3_ENST00000421739.2_In_Frame_Del_p.C107del|TYW3_ENST00000479111.1_In_Frame_Del_p.C71del	NM_138467.2	NP_612476.1	Q6IPR3	TYW3_HUMAN	tRNA-yW synthesizing protein 3 homolog (S. cerevisiae)	191					tRNA processing (GO:0008033)		methyltransferase activity (GO:0008168)			central_nervous_system(1)|endometrium(2)|kidney(1)|lung(7)|ovary(2)|prostate(1)|skin(1)	15						GGTTTTACAACTGCCTACAGCAT	0.32																																						ENST00000370867.3																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|lung(7)|ovary(2)|prostate(1)|skin(1)	15						c.(568-573)aac>aa		tRNA-yW synthesizing protein 3 homolog (S. cerevisiae)																																				SO:0001651	inframe_deletion	127253				tRNA processing		methyltransferase activity	g.chr1:75229587_75229589delCTG	BX647591	CCDS666.1, CCDS53334.1	1p31.1	2008-02-05	2006-05-25	2006-05-25	ENSG00000162623	ENSG00000162623			24757	protein-coding gene	gene with protein product		611245	"chromosome 1 open reading frame 171"	C1orf171		17150819	Standard	NM_138467		Approved	FLJ40918	uc001dgn.3	Q6IPR3	OTTHUMG00000009641	ENST00000370867.3:c.570_572delCTG	1.37:g.75229587_75229589delCTG	ENSP00000359904:p.Cys191del					TYW3_ENST00000457880.2_In_Frame_Del_p.NC157del|TYW3_ENST00000479111.1_3'UTR|TYW3_ENST00000421739.2_In_Frame_Del_p.NC106del	p.NC190del	NM_138467.2	NP_612476.1	Q6IPR3	TYW3_HUMAN			6	659_661	+			190					B4DSP9|E9PGR7|Q5HYJ0|Q8N7L1	In_Frame_Del	DEL	ENST00000370867.3	37	c.570_572delCTG	CCDS666.1																																																																																				0.32	TYW3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026573.1	NM_138467		24	36						24	36	---	---	---	---	-	75229589	CTG	-	75229587	7	5	342	1	0	1	0	1	0	0	0	0	16817	564	20	0	592	0	TYW3	1	75229587	In_Frame_Del	DEL	CTG	TCGA-KK-A8IF-01A-11D-A364-08	191206	75229587	174021034	3	17305											
SEC16B	89866	broad.mit.edu	37	chr1	177917008	177917008	+	Frame_Shift_Del	DEL	C	C	-																															acgctgatacagctctgggtCcccagcctgattcgacagaa																										TCGA-KK-A8IF-01A-11D-A364-08	TCGA-KK-A8IF-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0af96576-f308-4fec-bda0-f431f6531409	727485ca-631f-41a3-8f98-7450503b45f0	g.chr1:177917008delC	ENST00000308284.6	-	13	1704	c.1615delG	c.(1615-1617)gacfs	p.D539fs	RP4-798P15.3_ENST00000354921.3_RNA|SEC16B_ENST00000464631.2_Frame_Shift_Del_p.D540fs	NM_033127.2	NP_149118.2	Q96JE7	SC16B_HUMAN	SEC16 homolog B (S. cerevisiae)	539					COPII vesicle coating (GO:0048208)|endoplasmic reticulum organization (GO:0007029)|peroxisome fission (GO:0016559)|peroxisome organization (GO:0007031)|positive regulation of gene expression (GO:0010628)|positive regulation of protein exit from endoplasmic reticulum (GO:0070863)|protein localization to endoplasmic reticulum (GO:0070972)|protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|Golgi membrane (GO:0000139)|intracellular membrane-bounded organelle (GO:0043231)				central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)|stomach(1)	35						AGCTCTGGGTCCCCAGCCTGA	0.547																																						ENST00000308284.6																			0				central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)|stomach(1)	35						c.(1615-1617)acfs		SEC16 homolog B (S. cerevisiae)							40	45	44					1																	177917008		2005	4150	6155	SO:0001589	frameshift_variant	89866				protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane		g.chr1:177917008delC	AK090411	CCDS44281.1	1q25.2	2012-10-08	2007-06-20	2007-06-20	ENSG00000120341	ENSG00000120341			30301	protein-coding gene	gene with protein product	"regucalcin gene promotor region related protein"	612855	"leucine zipper transcription regulator 2"	LZTR2		11572484, 11605020	Standard	NM_033127		Approved	RGPR, PGPR-p117	uc001gli.1	Q96JE7	OTTHUMG00000167206	ENST00000308284.6:c.1615delG	1.37:g.177917008delC	ENSP00000308339:p.Asp539fs					RP4-798P15.3_ENST00000354921.2_5'UTR|SEC16B_ENST00000464631.1_Frame_Shift_Del_p.D540fs|RP4-798P15.3_ENST00000528461.1_3'UTR	p.D539fs	NM_033127.2	NP_149118.2	Q96JE7	SC16B_HUMAN			13	1704	-			539					A3EYF1|Q5HYF6|Q8N7D6|Q96GX6	Frame_Shift_Del	DEL	ENST00000308284.6	37	c.1615delG	CCDS44281.1																																																																																				0.547	SEC16B-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084773.16	NM_033127		2	4						2	4	---	---	---	---	-	177917008	C	-	177917008	7	5	342	1	0	1	0	1	0	0	0	0	13987	855	30	0	1623	0	SEC16B	1	177917008	Frame_Shift_Del	DEL	C	TCGA-KK-A8IF-01A-11D-A364-08	102687421	177917008	71333613	4	17306											
HMCN1	83872	broad.mit.edu	37	chr1	185959539	185959539	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tccacccataattacttgggCcaaagaaacccagctcatct	13	9	5	14	0	2	1	1	0	1	1	3	1	3	1	4	1	3	1	4	1	4	3			TCGA-KK-A8IF-01A-11D-A364-08	TCGA-KK-A8IF-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0af96576-f308-4fec-bda0-f431f6531409	727485ca-631f-41a3-8f98-7450503b45f0	g.chr1:185959539C>A	ENST00000271588.4	+	22	3570	c.3341C>A	c.(3340-3342)gCc>gAc	p.A1114D	HMCN1_ENST00000367492.2_Missense_Mutation_p.A1114D|HMCN1_ENST00000485744.1_3'UTR	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	1114	Ig-like C2-type 8.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						ATTACTTGGGCCAAAGAAACC	0.483																																						ENST00000271588.4																			0				NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						c.(3340-3342)gCc>gAc		hemicentin 1							143	130	135					1																	185959539		2203	4300	6503	SO:0001583	missense	83872				response to stimulus|visual perception	basement membrane	calcium ion binding	g.chr1:185959539C>A	AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"Fibulins", "Immunoglobulin superfamily / I-set domain containing"	19194	protein-coding gene	gene with protein product	"fibulin 6"	608548	"age-related macular degeneration 1 (senile macular degeneration)"	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.3341C>A	1.37:g.185959539C>A	ENSP00000271588:p.Ala1114Asp					HMCN1_ENST00000485744.1_3'UTR|HMCN1_ENST00000367492.2_Missense_Mutation_p.A1114D	p.A1114D	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN			22	3570	+			1114			Ig-like C2-type 8.		A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Missense_Mutation	SNP	ENST00000271588.4	37	c.3341C>A	CCDS30956.1	.	.	.	.	.	.	.	.	.	.	C	28.2	4.899133	0.91962	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	T;T	0.77358	-1.09;-1.09	5.79	5.79	0.91817	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.79885	0.4523	N	0.12887	0.27	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.997	T	0.80171	-0.1493	10	0.35671	T	0.21	.	20.04	0.97581	0.0:1.0:0.0:0.0	.	498;1114	Q96RW7-3;Q96RW7	.;HMCN1_HUMAN	D	1114	ENSP00000271588:A1114D;ENSP00000356462:A1114D	ENSP00000271588:A1114D	A	+	2	0	HMCN1	184226162	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.197000	0.77814	2.733000	0.93635	0.655000	0.94253	GCC		0.483	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935		31	50	1	0	9.78306e-22	1	1.08701e-21	31	50					A	185959539	C	A	185959539	3	1	342	1	0	0	0	0	1	0	0	0	7220	739	26	5	3427	5	HMCN1	1	185959539	Missense_Mutation	SNP	C	TCGA-KK-A8IF-01A-11D-A364-08	8042531	185959539	63291082	5	17307											
MYBPH	4608	broad.mit.edu	37	chr1	203140637	203140637	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggagtcctggtccccggtgcGcatgctcacccgctggctgt	3	9	14	15	3	1	0	1	0	0	0	3	1	3	1	4	4	2	4	4	4	0	0	rs77556926	byFrequency	TCGA-KK-A8IF-01A-11D-A364-08	TCGA-KK-A8IF-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0af96576-f308-4fec-bda0-f431f6531409	727485ca-631f-41a3-8f98-7450503b45f0	g.chr1:203140637G>A	ENST00000255416.4	-	5	724	c.667C>T	c.(667-669)Cgc>Tgc	p.R223C		NM_004997.2	NP_004988.2	Q13203	MYBPH_HUMAN	myosin binding protein H	223	Ig-like C2-type 1.				cell adhesion (GO:0007155)|regulation of striated muscle contraction (GO:0006942)	myosin filament (GO:0032982)	structural constituent of muscle (GO:0008307)			endometrium(5)|large_intestine(6)|lung(7)|skin(1)|urinary_tract(1)	20			BRCA - Breast invasive adenocarcinoma(75;0.153)	Colorectal(1306;0.0306)		TCCCCGGTGCGCATGCTCACC	0.662													G|||	2	0.000399361	0	0	5008	,	,		19721	0		0.002	False		,,,				2504	0				NSCLC(32;174 1025 14462 23899 42933)	ENST00000255416.4																			0				endometrium(5)|large_intestine(6)|lung(7)|skin(1)|urinary_tract(1)	20						c.(667-669)Cgc>Tgc		myosin binding protein H		G	CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	61	62	62		667	3.7	1	1	dbSNP_131	62	30,8570	21.0+/-64.5	0,30,4270	yes	missense	MYBPH	NM_004997.2	180	0,31,6472	AA,AG,GG		0.3488,0.0227,0.2384	probably-damaging	223/478	203140637	31,12975	2203	4300	6503	SO:0001583	missense	4608				cell adhesion|regulation of striated muscle contraction	myosin filament	structural constituent of muscle	g.chr1:203140637G>A	BC044226	CCDS30975.1	1q32.1	2013-02-11	2001-11-28		ENSG00000133055	ENSG00000133055		"Myosin binding proteins", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	7552	protein-coding gene	gene with protein product		160795	"myosin-binding protein H"			8486381	Standard	NM_004997		Approved		uc001gzh.1	Q13203	OTTHUMG00000042121	ENST00000255416.4:c.667C>T	1.37:g.203140637G>A	ENSP00000255416:p.Arg223Cys						p.R223C	NM_004997.2	NP_004988.2	Q13203	MYBPH_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.153)	Colorectal(1306;0.0306)	5	724	-			223			Ig-like C2-type 1.		Q16886|Q86YC5	Missense_Mutation	SNP	ENST00000255416.4	37	c.667C>T	CCDS30975.1	2	9.157509157509158E-4	0	0.0	0	0.0	0	0.0	2	0.002638522427440633	G	20.4	3.981633	0.74474	2.27E-4	0.003488	ENSG00000133055	ENST00000255416	T	0.68479	-0.33	4.62	3.71	0.42584	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.53938	D	0.000042	D	0.84388	0.5461	H	0.95328	3.655	0.58432	D	0.999997	D	0.76494	0.999	D	0.72338	0.977	D	0.86047	0.1523	10	0.87932	D	0	.	8.3387	0.32230	0.0793:0.0:0.7675:0.1532	.	223	Q13203	MYBPH_HUMAN	C	223	ENSP00000255416:R223C	ENSP00000255416:R223C	R	-	1	0	MYBPH	201407260	0.999000	0.42202	0.972000	0.41901	0.981000	0.71138	2.206000	0.42779	1.296000	0.44742	0.561000	0.74099	CGC		0.662	MYBPH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000100264.1	NM_004997		11	22	0	0	0	1	0	11	22					A	203140637	G	A	203140637	3	1	342	1	0	0	0	0	1	0	0	0	10014	1087	38	1	790	1	MYBPH	1	203140637	Missense_Mutation	SNP	G	TCGA-KK-A8IF-01A-11D-A364-08	17181098	203140637	46109984	6	17308											
ATP13A5	344905	broad.mit.edu	37	chr3	193032862	193032862	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgatgagaagtcccagaaatGttaactctgactccactttt	12	13	7	9	0	1	4	0	3	1	2	3	5	3	4	2	0	1	1	2	0	3	3			TCGA-KK-A8IF-01A-11D-A364-08	TCGA-KK-A8IF-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0af96576-f308-4fec-bda0-f431f6531409	727485ca-631f-41a3-8f98-7450503b45f0	g.chr3:193032862G>A	ENST00000342358.4	-	18	2174	c.2057C>T	c.(2056-2058)aCa>aTa	p.T686I	ATP13A5-AS1_ENST00000414634.1_RNA|ATP13A5_ENST00000495496.1_5'Flank	NM_198505.2	NP_940907.2	Q4VNC0	AT135_HUMAN	ATPase type 13A5	686						integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)			NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76	all_cancers(143;1.08e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000307)		TCCCAGAAATGTTAACTCTGA	0.358																																						ENST00000342358.4																			0				NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76						c.(2056-2058)aCa>aTa		ATPase type 13A5							95	93	94					3																	193032862		2203	4300	6503	SO:0001583	missense	344905				ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding	g.chr3:193032862G>A	AK122613	CCDS33914.1	3q29	2010-04-20			ENSG00000187527	ENSG00000187527		"ATPases / P-type"	31789	protein-coding gene	gene with protein product							Standard	NM_198505		Approved	FLJ16025	uc011bsq.2	Q4VNC0	OTTHUMG00000156101	ENST00000342358.4:c.2057C>T	3.37:g.193032862G>A	ENSP00000341942:p.Thr686Ile						p.T686I	NM_198505.2	NP_940907.2	Q4VNC0	AT135_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000307)	18	2174	-	all_cancers(143;1.08e-08)|Ovarian(172;0.0386)		686					Q6UWS4|Q6ZWL0	Missense_Mutation	SNP	ENST00000342358.4	37	c.2057C>T	CCDS33914.1	.	.	.	.	.	.	.	.	.	.	G	8.840	0.942080	0.18281	.	.	ENSG00000187527	ENST00000342358	T	0.71698	-0.59	5.56	4.67	0.58626	ATPase, cation-transporting, domain N (1);HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	0.538753	0.19586	N	0.110728	T	0.47173	0.1431	N	0.05534	-0.03	0.25824	N	0.98424	B	0.09022	0.002	B	0.14023	0.01	T	0.19910	-1.0291	10	0.30854	T	0.27	-8.0201	7.812	0.29237	0.1718:0.0:0.8282:0.0	.	686	Q4VNC0	AT135_HUMAN	I	686	ENSP00000341942:T686I	ENSP00000341942:T686I	T	-	2	0	ATP13A5	194515556	0.949000	0.32298	0.994000	0.49952	0.958000	0.62258	1.904000	0.39868	2.792000	0.96026	0.557000	0.71058	ACA		0.358	ATP13A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343012.1	NM_198505		9	180	0	0	0	1	0	9	180					A	193032862	G	A	193032862	3	1	342	1	0	0	0	0	1	0	0	0	1127	1377	48	3	1649	3	ATP13A5	3	193032862	Missense_Mutation	SNP	G	TCGA-KK-A8IF-01A-11D-A364-08		193032862	4989568	7	17309											
GFOD1	54438	broad.mit.edu	37	chr6	13365848	13365848	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccgaggtcatgcggaaagcGtccagcggcgtggccgtgcg	6	5	18	12	7	1	0	1	0	0	0	2	2	2	1	3	4	4	0	3	4	1	0			TCGA-KK-A8IF-01A-11D-A364-08	TCGA-KK-A8IF-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0af96576-f308-4fec-bda0-f431f6531409	727485ca-631f-41a3-8f98-7450503b45f0	g.chr6:13365848G>A	ENST00000379287.3	-	2	964	c.300C>T	c.(298-300)gaC>gaT	p.D100D	GFOD1_ENST00000379284.1_De_novo_Start_OutOfFrame	NM_018988.3	NP_061861.1	Q9NXC2	GFOD1_HUMAN	glucose-fructose oxidoreductase domain containing 1	100						extracellular region (GO:0005576)	oxidoreductase activity (GO:0016491)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)	18	Breast(50;0.0296)|Ovarian(93;0.0454)	all_hematologic(90;0.135)	Epithelial(50;0.0348)|BRCA - Breast invasive adenocarcinoma(129;0.1)|all cancers(50;0.108)			TGCGGAAAGCGTCCAGCGGCG	0.662																																						ENST00000379284.1																			0				central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)	18								glucose-fructose oxidoreductase domain containing 1							60	62	61					6																	13365848		2202	4294	6496	SO:0001819	synonymous_variant	54438					extracellular region	binding|oxidoreductase activity	g.chr6:13365848G>A	AK000337	CCDS4524.1, CCDS56397.1, CCDS64351.1	6p24.1-p23	2013-09-19			ENSG00000145990	ENSG00000145990			21096	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 114"	C6orf114			Standard	NM_018988		Approved	FLJ20330, ADG-90	uc003nat.2	Q9NXC2	OTTHUMG00000014276	ENST00000379287.3:c.300C>T	6.37:g.13365848G>A						GFOD1_ENST00000379287.3_Silent_p.D100D		NM_001242628.1|NM_001242630.1	NP_001229557.1|NP_001229559.1	Q9NXC2	GFOD1_HUMAN	Epithelial(50;0.0348)|BRCA - Breast invasive adenocarcinoma(129;0.1)|all cancers(50;0.108)		0	274	-	Breast(50;0.0296)|Ovarian(93;0.0454)	all_hematologic(90;0.135)						A8E4L6|Q5T058|Q96JD4|Q9H5K2	Translation_Start_Site	SNP	ENST00000379287.3	37		CCDS4524.1																																																																																				0.662	GFOD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039902.1	NM_018988		33	50	0	0	0	1	0	33	50					A	13365848	G	A	13365848	2	1	342	1	0	0	0	0	0	0	0	1	6343	1136	40	1		1	GFOD1	6	13365848	Silent	SNP	G	TCGA-KK-A8IF-01A-11D-A364-08		13365848	157749219	8	17310											
FLNC	2318	broad.mit.edu	37	chr7	128481581	128481581	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cgctgagttcaccattgatgCtcgtgcagctggcaagggag	8	9	14	10	2	1	2	1	2	0	0	2	3	1	3	1	2	3	6	1	2	1	2			TCGA-KK-A8IF-01A-11D-A364-08	TCGA-KK-A8IF-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0af96576-f308-4fec-bda0-f431f6531409	727485ca-631f-41a3-8f98-7450503b45f0	g.chr7:128481581C>G	ENST00000325888.8	+	13	2342	c.2081C>G	c.(2080-2082)gCt>gGt	p.A694G	FLNC_ENST00000346177.6_Missense_Mutation_p.A694G	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	694					cell junction assembly (GO:0034329)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|cytoskeletal protein binding (GO:0008092)			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						ACCATTGATGCTCGTGCAGCT	0.602																																						ENST00000325888.8																			0				biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						c.(2080-2082)gCt>gGt		filamin C, gamma							136	141	140					7																	128481581		2044	4199	6243	SO:0001583	missense	2318				cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding	g.chr7:128481581C>G	AB208865	CCDS43644.1, CCDS47705.1	7q32-q35	2014-09-17	2009-07-23		ENSG00000128591	ENSG00000128591			3756	protein-coding gene	gene with protein product	"actin binding protein 280"	102565	"filamin C, gamma (actin binding protein 280)"	FLN2		7689010, 8088838	Standard	NM_001458		Approved	ABP-280, ABPL	uc003vnz.4	Q14315	OTTHUMG00000023627	ENST00000325888.8:c.2081C>G	7.37:g.128481581C>G	ENSP00000327145:p.Ala694Gly					FLNC_ENST00000346177.6_Missense_Mutation_p.A694G	p.A694G	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN			13	2342	+			694					B2ZZ88|O95303|Q07985|Q9NS12|Q9NYE5|Q9UMR8|Q9Y503	Missense_Mutation	SNP	ENST00000325888.8	37	c.2081C>G	CCDS43644.1	.	.	.	.	.	.	.	.	.	.	C	36	5.635920	0.96693	.	.	ENSG00000128591	ENST00000325888;ENST00000346177	D;D	0.86230	-2.09;-2.09	5.57	5.57	0.84162	Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.117945	0.56097	D	0.000021	D	0.92296	0.7556	M	0.76328	2.33	0.58432	D	0.999992	P;P	0.49783	0.578;0.928	P;P	0.56343	0.498;0.796	D	0.92599	0.6089	10	0.66056	D	0.02	.	19.5469	0.95302	0.0:1.0:0.0:0.0	.	694;694	Q14315-2;Q14315	.;FLNC_HUMAN	G	694	ENSP00000327145:A694G;ENSP00000344002:A694G	ENSP00000327145:A694G	A	+	2	0	FLNC	128268817	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.584000	0.82572	2.619000	0.88677	0.561000	0.74099	GCT		0.602	FLNC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059948.3			105	62	0	0	0	1	0	105	62					G	128481581	C	G	128481581	3	3	342	1	0	0	0	0	1	0	0	0	5935	797	28	5	2131	5	FLNC	7	128481581	Missense_Mutation	SNP	C	TCGA-KK-A8IF-01A-11D-A364-08		128481581	30657082	9	17311											
MLL3	58508	broad.mit.edu	37	chr7	151878020	151878020	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgttccaaaagagtcagactGagatcttggagtcattggag	12	11	12	6	0	3	3	2	1	1	3	4	6	4	5	1	2	0	1	1	2	2	3			TCGA-KK-A8IF-01A-11D-A364-08	TCGA-KK-A8IF-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0af96576-f308-4fec-bda0-f431f6531409	727485ca-631f-41a3-8f98-7450503b45f0	g.chr7:151878020G>A	ENST00000262189.6	-	36	7143	c.6925C>T	c.(6925-6927)Cag>Tag	p.Q2309*	KMT2C_ENST00000355193.2_Nonsense_Mutation_p.Q2309*	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	2309					histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										GAGTCAGACTGAGATCTTGGA	0.507																																						ENST00000355193.2																			0											c.(6925-6927)Cag>Tag		lysine (K)-specific methyltransferase 2C							108	98	101					7																	151878020		2203	4300	6503	SO:0001587	stop_gained	58508							g.chr7:151878020G>A	AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	13726	protein-coding gene	gene with protein product		606833	"myeloid/lymphoid or mixed-lineage leukemia 3"	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.6925C>T	7.37:g.151878020G>A	ENSP00000262189:p.Gln2309*					KMT2C_ENST00000262189.6_Nonsense_Mutation_p.Q2309*	p.Q2309*							36	7143	-								Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Nonsense_Mutation	SNP	ENST00000262189.6	37	c.6925C>T	CCDS5931.1	.	.	.	.	.	.	.	.	.	.	G	45	11.803886	0.99604	.	.	ENSG00000055609	ENST00000262189;ENST00000355193	.	.	.	5.26	5.26	0.73747	.	0.153090	0.30109	N	0.010392	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.07644	T	0.81	.	19.2482	0.93912	0.0:0.0:1.0:0.0	.	.	.	.	X	2309	.	ENSP00000262189:Q2309X	Q	-	1	0	MLL3	151508953	1.000000	0.71417	0.105000	0.21289	0.010000	0.07245	6.059000	0.71133	2.618000	0.88619	0.655000	0.94253	CAG		0.507	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3			50	18	0	0	0	1	0	50	18					A	151878020	G	A	151878020	4	1	342	1	0	0	0	0	0	1	0	0	9622	1299	45	3	7906	3	MLL3	7	151878020	Nonsense_Mutation	SNP	G	TCGA-KK-A8IF-01A-11D-A364-08	23396439	151878020	7260643	10	17312											
GALNT12	79695	broad.mit.edu	37	chr9	101608342	101608342	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gctgtggaagcaggaatggaTacccttatcatgcatctctg	10	11	11	9	0	2	0	1	0	1	0	3	3	2	3	1	3	3	3	1	3	4	2			TCGA-KK-A8IF-01A-11D-A364-08	TCGA-KK-A8IF-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0af96576-f308-4fec-bda0-f431f6531409	727485ca-631f-41a3-8f98-7450503b45f0	g.chr9:101608342T>C	ENST00000375011.3	+	9	1542	c.1542T>C	c.(1540-1542)gaT>gaC	p.D514D	RP11-92C4.3_ENST00000589257.1_RNA|RP11-92C4.3_ENST00000433997.1_RNA	NM_024642.4	NP_078918.3	Q8IXK2	GLT12_HUMAN	polypeptide N-acetylgalactosaminyltransferase 12	514	Ricin B-type lectin. {ECO:0000255|PROSITE-ProRule:PRU00174}.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			breast(1)|endometrium(2)|large_intestine(3)|lung(8)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	17		Acute lymphoblastic leukemia(62;0.0559)				CAGGAATGGATACCCTTATCA	0.498																																						ENST00000375011.3																			0				breast(1)|endometrium(2)|large_intestine(3)|lung(8)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	17						c.(1540-1542)gaT>gaC		UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 12 (GalNAc-T12)							129	116	121					9																	101608342		2203	4300	6503	SO:0001819	synonymous_variant	79695					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr9:101608342T>C	AB078146	CCDS6737.1	9q22.33	2014-03-13	2014-03-13		ENSG00000119514	ENSG00000119514	2.4.1.41	"Glycosyltransferase family 2 domain containing"	19877	protein-coding gene	gene with protein product	"polypeptide GalNAc transferase 12"	610290	"UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 12 (GalNAc-T12)"			12135769	Standard	NM_024642		Approved	GalNAc-T12	uc004ayz.3	Q8IXK2	OTTHUMG00000020348	ENST00000375011.3:c.1542T>C	9.37:g.101608342T>C							p.D514D	NM_024642.4	NP_078918.3	Q8IXK2	GLT12_HUMAN			9	1542	+		Acute lymphoblastic leukemia(62;0.0559)	514			Ricin B-type lectin.		Q5TCF7|Q8NG54|Q96CT9|Q9H771	Silent	SNP	ENST00000375011.3	37	c.1542T>C	CCDS6737.1																																																																																				0.498	GALNT12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053382.1	NM_024642		22	38	0	0	0	1	0	22	38					C	101608342	T	C	101608342	2	2	342	1	0	0	0	0	0	0	0	1	6210	1403	49	4		4	GALNT12	9	101608342	Silent	SNP	T	TCGA-KK-A8IF-01A-11D-A364-08		101608342	39605089	11	17313											
ADAMTS14	140766	broad.mit.edu	37	chr10	72511348	72511348	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctcctggaggagatggacAcctatgagtgggcgctcaag	9	8	15	9	1	1	2	1	1	0	1	2	5	2	4	2	4	1	2	2	4	2	1			TCGA-KK-A8IF-01A-11D-A364-08	TCGA-KK-A8IF-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0af96576-f308-4fec-bda0-f431f6531409	727485ca-631f-41a3-8f98-7450503b45f0	g.chr10:72511348A>T	ENST00000373207.1	+	17	2542	c.2542A>T	c.(2542-2544)Acc>Tcc	p.T848S	ADAMTS14_ENST00000373208.1_Missense_Mutation_p.T851S	NM_080722.3	NP_542453.2	Q8WXS8	ATS14_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 14	848	TSP type-1 2. {ECO:0000255|PROSITE- ProRule:PRU00210}.				collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(15)|ovary(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						GGAGATGGACACCTATGAGTG	0.632																																						ENST00000373208.1																			0				NS(1)|autonomic_ganglia(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(15)|ovary(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						c.(2551-2553)Acc>Tcc		ADAM metallopeptidase with thrombospondin type 1 motif, 14							63	64	63					10																	72511348		2203	4300	6503	SO:0001583	missense	140766				collagen catabolic process|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr10:72511348A>T	AF358666	CCDS7306.1, CCDS7307.1	10q21	2008-08-01	2005-08-19		ENSG00000138316	ENSG00000138316		"ADAM metallopeptidases with thrombospondin type 1 motif"	14899	protein-coding gene	gene with protein product		607506	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 14"			11779638	Standard	NM_139155		Approved		uc001jrg.3	Q8WXS8	OTTHUMG00000018414	ENST00000373207.1:c.2542A>T	10.37:g.72511348A>T	ENSP00000362303:p.Thr848Ser					ADAMTS14_ENST00000373207.1_Missense_Mutation_p.T848S	p.T851S	NM_139155.2	NP_631894.2	Q8WXS8	ATS14_HUMAN			17	2551	+			848			TSP type-1 2.		Q5T4G0|Q5T4G1|Q8TE55|Q8TEY8	Missense_Mutation	SNP	ENST00000373207.1	37	c.2551A>T	CCDS7306.1	.	.	.	.	.	.	.	.	.	.	A	4.023	0.001792	0.07819	.	.	ENSG00000138316	ENST00000373208;ENST00000373207	T;T	0.60299	0.2;0.2	4.38	1.78	0.24846	.	0.209202	0.41001	N	0.000967	T	0.27697	0.0681	N	0.05230	-0.09	0.31126	N	0.708247	B;B	0.14012	0.004;0.009	B;B	0.13407	0.009;0.009	T	0.30534	-0.9975	10	0.06099	T	0.92	.	8.9326	0.35680	0.5712:0.0:0.0:0.4288	.	848;851	Q8WXS8;Q5T4G1	ATS14_HUMAN;.	S	851;848	ENSP00000362304:T851S;ENSP00000362303:T848S	ENSP00000362303:T848S	T	+	1	0	ADAMTS14	72181354	1.000000	0.71417	0.978000	0.43139	0.629000	0.37895	2.222000	0.42926	0.693000	0.31634	0.460000	0.39030	ACC		0.632	ADAMTS14-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000048522.1	NM_080722		16	23	0	0	0	1	0	16	23					T	72511348	A	T	72511348	3	4	342	1	0	0	0	0	1	0	0	0	259	159	6	5	2617	5	ADAMTS14	10	72511348	Missense_Mutation	SNP	A	TCGA-KK-A8IF-01A-11D-A364-08		72511348	63023399	12	17314											
DCHS1	8642	broad.mit.edu	37	chr11	6643327	6643327	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gtcgatacggggagctggggGacatggccgagcttcatcct	7	8	16	10	3	1	0	1	0	0	0	3	4	2	2	2	5	3	2	2	5	1	2			TCGA-KK-A8IF-01A-11D-A364-08	TCGA-KK-A8IF-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0af96576-f308-4fec-bda0-f431f6531409	727485ca-631f-41a3-8f98-7450503b45f0	g.chr11:6643327G>A	ENST00000299441.3	-	21	9991	c.9580C>T	c.(9580-9582)Ccc>Tcc	p.P3194S	RP11-732A19.5_ENST00000526456.1_RNA|TPP1_ENST00000528657.1_5'Flank|RP11-732A19.9_ENST00000545572.1_RNA|TPP1_ENST00000299427.6_5'Flank|TPP1_ENST00000533371.1_5'Flank|TPP1_ENST00000534644.1_5'Flank	NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	3194					branching involved in ureteric bud morphogenesis (GO:0001658)|calcium-dependent cell-cell adhesion (GO:0016339)|cochlea development (GO:0090102)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|neural tube development (GO:0021915)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|post-anal tail morphogenesis (GO:0036342)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.P3194S(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GGAGCTGGGGGACATGGCCGA	0.622																																						ENST00000299441.3																			1	Substitution - Missense(1)	p.P3194S(1)	upper_aerodigestive_tract(1)	breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103						c.(9580-9582)Ccc>Tcc		dachsous cadherin-related 1							43	49	47					11																	6643327		2201	4296	6497	SO:0001583	missense	8642				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr11:6643327G>A	AB000895	CCDS7771.1	11p15.4	2013-10-04	2013-10-04	2004-09-03	ENSG00000166341	ENSG00000166341		"Cadherins / Cadherin-related"	13681	protein-coding gene	gene with protein product	"cadherin-related family member 6"	603057	"protocadherin 16", "dachsous 1 (Drosophila)"	CDH25, PCDH16		9199196	Standard	XM_005253207		Approved	FIB1, KIAA1773, FLJ11790, CDHR6	uc001mem.1	Q96JQ0	OTTHUMG00000133398	ENST00000299441.3:c.9580C>T	11.37:g.6643327G>A	ENSP00000299441:p.Pro3194Ser					RP11-732A19.5_ENST00000526456.1_RNA	p.P3194S	NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	21	9991	-		Medulloblastoma(188;0.00263)|all_neural(188;0.026)	3194					O15098	Missense_Mutation	SNP	ENST00000299441.3	37	c.9580C>T	CCDS7771.1	.	.	.	.	.	.	.	.	.	.	G	13.48	2.249174	0.39797	.	.	ENSG00000166341	ENST00000299441	T	0.56103	0.48	4.88	4.88	0.63580	.	0.000000	0.42172	D	0.000760	T	0.67306	0.2879	M	0.61703	1.905	0.46586	D	0.99911	D	0.76494	0.999	D	0.64144	0.922	T	0.65154	-0.6237	10	0.34782	T	0.22	.	16.7719	0.85539	0.0:0.0:1.0:0.0	.	3194	Q96JQ0	PCD16_HUMAN	S	3194	ENSP00000299441:P3194S	ENSP00000299441:P3194S	P	-	1	0	DCHS1	6599903	1.000000	0.71417	0.998000	0.56505	0.859000	0.49053	4.697000	0.61782	2.531000	0.85337	0.313000	0.20887	CCC		0.622	DCHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257258.1	NM_003737		3	24	0	0	0	1	0	3	24					A	6643327	G	A	6643327	3	1	342	1	0	0	0	0	1	0	0	0	4287	1174	41	3	320	3	DCHS1	11	6643327	Missense_Mutation	SNP	G	TCGA-KK-A8IF-01A-11D-A364-08		6643327	128363189	13	17315											
TCN1	6947	broad.mit.edu	37	chr11	59620781	59620781	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	atagggcccccatgagcgctCctccattgtgaaactgtggg	8	9	12	12	1	0	2	0	2	0	0	2	2	2	2	4	2	2	1	4	2	2	2			TCGA-KK-A8IF-01A-11D-A364-08	TCGA-KK-A8IF-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0af96576-f308-4fec-bda0-f431f6531409	727485ca-631f-41a3-8f98-7450503b45f0	g.chr11:59620781C>T	ENST00000257264.3	-	8	1239	c.1135G>A	c.(1135-1137)Gag>Aag	p.E379K	TCN1_ENST00000532419.1_5'Flank	NM_001062.3	NP_001053.2	P20061	TCO1_HUMAN	transcobalamin I (vitamin B12 binding protein, R binder family)	379	Globular C-terminal beta domain.				cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|cobalt ion transport (GO:0006824)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	cobalamin binding (GO:0031419)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(15)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29		all_epithelial(135;0.198)			Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	CATGAGCGCTCCTCCATTGTG	0.458																																						ENST00000257264.3																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(15)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29						c.(1135-1137)Gag>Aag		transcobalamin I (vitamin B12 binding protein, R binder family)	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)						95	96	96					11																	59620781		2201	4295	6496	SO:0001583	missense	6947				cobalamin metabolic process|cobalamin transport|cobalt ion transport	extracellular region	cobalamin binding	g.chr11:59620781C>T	J05068	CCDS7978.1	11q11-q12	2008-07-21			ENSG00000134827	ENSG00000134827			11652	protein-coding gene	gene with protein product	"haptocorin", "haptocorrin"	189905					Standard	NM_001062		Approved	TCI, TC1	uc001noj.2	P20061	OTTHUMG00000167400	ENST00000257264.3:c.1135G>A	11.37:g.59620781C>T	ENSP00000257264:p.Glu379Lys						p.E379K	NM_001062.3	NP_001053.2	P20061	TCO1_HUMAN			8	1239	-		all_epithelial(135;0.198)	379					A8KAC5|Q8WV77	Missense_Mutation	SNP	ENST00000257264.3	37	c.1135G>A	CCDS7978.1	.	.	.	.	.	.	.	.	.	.	C	11.20	1.567520	0.28003	.	.	ENSG00000134827	ENST00000257264	T	0.30714	1.52	4.97	-1.67	0.08238	.	0.782041	0.10644	N	0.650695	T	0.24509	0.0594	M	0.69823	2.125	0.09310	N	1	B	0.14805	0.011	B	0.14578	0.011	T	0.33727	-0.9857	10	0.22109	T	0.4	-0.0907	1.8604	0.03187	0.1633:0.2561:0.3999:0.1807	.	379	P20061	TCO1_HUMAN	K	379	ENSP00000257264:E379K	ENSP00000257264:E379K	E	-	1	0	TCN1	59377357	0.000000	0.05858	0.005000	0.12908	0.183000	0.23260	-0.101000	0.10973	0.009000	0.14813	0.650000	0.86243	GAG		0.458	TCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394503.1	NM_001062		32	49	0	0	0	1	0	32	49					T	59620781	C	T	59620781	3	4	342	1	0	0	0	0	1	0	0	0	15703	864	30	3	174	3	TCN1	11	59620781	Missense_Mutation	SNP	C	TCGA-KK-A8IF-01A-11D-A364-08	52977454	59620781	75385735	14	17316											
DYNC2H1	79659	broad.mit.edu	37	chr11	103124075	103124075	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tacaatgaagaattccgcctCtttttgtcaacaagaaaccc	14	11	5	11	1	2	3	1	1	1	2	3	3	3	3	3	0	3	0	3	0	7	4	rs574497162|rs431905500	byFrequency	TCGA-KK-A8IF-01A-11D-A364-08	TCGA-KK-A8IF-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0af96576-f308-4fec-bda0-f431f6531409	727485ca-631f-41a3-8f98-7450503b45f0	g.chr11:103124075C>G	ENST00000375735.2	+	66	10248	c.10104C>G	c.(10102-10104)ctC>ctG	p.L3368L	DYNC2H1_ENST00000334267.7_Intron|DYNC2H1_ENST00000398093.3_Silent_p.L3375L	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	3368	AAA 5. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|asymmetric protein localization (GO:0008105)|cilium assembly (GO:0042384)|determination of left/right symmetry (GO:0007368)|dorsal/ventral pattern formation (GO:0009953)|embryonic limb morphogenesis (GO:0030326)|forebrain development (GO:0030900)|Golgi organization (GO:0007030)|intraciliary retrograde transport (GO:0035721)|positive regulation of smoothened signaling pathway (GO:0045880)|protein processing (GO:0016485)|spinal cord motor neuron differentiation (GO:0021522)	apical part of cell (GO:0045177)|axoneme (GO:0005930)|cytosol (GO:0005829)|dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|motile primary cilium (GO:0031512)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		AATTCCGCCTCTTTTTGTCAA	0.373																																						ENST00000375735.2																			0				NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33						c.(10102-10104)ctC>ctG		dynein, cytoplasmic 2, heavy chain 1							101	98	99					11																	103124075		1830	4079	5909	SO:0001819	synonymous_variant	79659				cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development	cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity	g.chr11:103124075C>G	AB082528	CCDS44717.1, CCDS53701.1	11q21-q22.1	2011-06-02	2005-11-24	2005-11-24	ENSG00000187240	ENSG00000187240		"Cytoplasmic dyneins"	2962	protein-coding gene	gene with protein product		603297	"dynein, cytoplasmic, heavy polypeptide 2"	DNCH2		9763680, 9373155	Standard	NM_001080463		Approved	hdhc11, DHC2, DHC1b, DYH1B	uc001phn.1	Q8NCM8	OTTHUMG00000165941	ENST00000375735.2:c.10104C>G	11.37:g.103124075C>G						DYNC2H1_ENST00000398093.3_Silent_p.L3375L|DYNC2H1_ENST00000334267.7_Intron	p.L3368L	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)	66	10248	+		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)	3368			AAA 5 (By similarity).		O00432|Q16693|Q3C1U8|Q4AC93|Q6ZMX7|Q6ZUM6|Q7Z363|Q8N977|Q92815|Q9HAE4	Silent	SNP	ENST00000375735.2	37	c.10104C>G	CCDS53701.1																																																																																				0.373	DYNC2H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387196.1	XM_370652		36	5	0	0	0	1	0	36	5					G	103124075	C	G	103124075	2	3	342	1	0	0	0	0	0	0	0	1	4846	900	32	5		5	DYNC2H1	11	103124075	Silent	SNP	C	TCGA-KK-A8IF-01A-11D-A364-08	43503294	103124075	31882441	15	17317											
ATM	472	broad.mit.edu	37	chr11	108117798	108117798	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gaaagtattcttcaggatttCgtaatattgccgtcaaagaa	14	13	8	6	2	3	1	2	0	1	1	4	3	3	2	1	1	1	2	1	1	6	7	rs138398778		TCGA-KK-A8IF-01A-11D-A364-08	TCGA-KK-A8IF-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0af96576-f308-4fec-bda0-f431f6531409	727485ca-631f-41a3-8f98-7450503b45f0	g.chr11:108117798C>T	ENST00000452508.2	+	9	1198	c.1009C>T	c.(1009-1011)Cgt>Tgt	p.R337C	ATM_ENST00000278616.4_Missense_Mutation_p.R337C			Q13315	ATM_HUMAN	ATM serine/threonine kinase	337			R -> C (in a colorectal adenocarcinoma sample; somatic mutation). {ECO:0000269|PubMed:17344846}.|R -> H (in a colorectal adenocarcinoma sample; somatic mutation). {ECO:0000269|PubMed:17344846}.		brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|DNA damage induced protein phosphorylation (GO:0006975)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|heart development (GO:0007507)|histone mRNA catabolic process (GO:0071044)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|lipoprotein catabolic process (GO:0042159)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of B cell proliferation (GO:0030889)|neuron apoptotic process (GO:0051402)|oocyte development (GO:0048599)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of neuron apoptotic process (GO:0043525)|pre-B cell allelic exclusion (GO:0002331)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reciprocal meiotic recombination (GO:0007131)|replicative senescence (GO:0090399)|response to hypoxia (GO:0001666)|response to ionizing radiation (GO:0010212)|signal transduction (GO:0007165)|signal transduction involved in mitotic G2 DNA damage checkpoint (GO:0072434)|somitogenesis (GO:0001756)|telomere maintenance (GO:0000723)	cytoplasmic vesicle (GO:0031410)|nucleoplasm (GO:0005654)|spindle (GO:0005819)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|histone serine kinase activity (GO:0035174)|protein complex binding (GO:0032403)|protein dimerization activity (GO:0046983)|protein N-terminus binding (GO:0047485)|protein serine/threonine kinase activity (GO:0004674)	p.R337C(3)|p.R337S(2)|p.F336_A340del(1)		NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	Caffeine(DB00201)	TTCAGGATTTCGTAATATTGC	0.323			"D, Mis, N, F, S"		T-PLL	"leukemia, lymphoma, medulloblastoma, glioma"		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)																												ENST00000278616.4			yes	Rec	yes	Ataxia-telangiectasia	11	11q22.3	472	"D, Mis, N, F, S"	ataxia telangiectasia mutated			"L, O"		"leukemia, lymphoma, medulloblastoma, glioma"	T-PLL		6	Substitution - Missense(5)|Deletion - In frame(1)	p.R337C(3)|p.R337S(2)|p.F336_A340del(1)	haematopoietic_and_lymphoid_tissue(3)|upper_aerodigestive_tract(1)|large_intestine(1)|breast(1)	NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448						c.(1009-1011)Cgt>Tgt	Genes defective in diseases associated with sensitivity to DNA damaging agents	ataxia telangiectasia mutated		C	CYS/ARG	0,4402		0,0,2201	60	61	61		1009	5.7	1	11	dbSNP_134	61	1,8595	1.2+/-3.3	0,1,4297	yes	missense	ATM	NM_000051.3	180	0,1,6498	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	337/3057	108117798	1,12997	2201	4298	6499	SO:0001583	missense	472	Ataxia Telangiectasia	Familial Cancer Database	AT, Louis-Bar syndrome	cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding	g.chr11:108117798C>T	AB209133	CCDS31669.1	11q22-q23	2014-09-17	2014-06-17		ENSG00000149311	ENSG00000149311			795	protein-coding gene	gene with protein product	"TEL1, telomere maintenance 1, homolog (S. cerevisiae)"	607585	"ataxia telangiectasia mutated (includes complementation groups A, C and D)", "ataxia telangiectasia mutated"	ATA, ATDC, ATC, ATD			Standard	XM_005271561		Approved	TEL1, TELO1	uc001pkb.1	Q13315	OTTHUMG00000166480	ENST00000452508.2:c.1009C>T	11.37:g.108117798C>T	ENSP00000388058:p.Arg337Cys	TSP Lung(14;0.12)				ATM_ENST00000452508.2_Missense_Mutation_p.R337C	p.R337C	NM_000051.3	NP_000042.3	Q13315	ATM_HUMAN		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	8	1394	+		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)	337		R -> C (in a colorectal adenocarcinoma sample; somatic mutation).|R -> H (in a colorectal adenocarcinoma sample; somatic mutation).			B2RNX5|O15429|Q12758|Q16551|Q93007|Q9NP02|Q9UCX7	Missense_Mutation	SNP	ENST00000452508.2	37	c.1009C>T	CCDS31669.1	.	.	.	.	.	.	.	.	.	.	C	24.8	4.568847	0.86439	0.0	1.16E-4	ENSG00000149311	ENST00000527805;ENST00000278616;ENST00000452508	T;T;T	0.02369	4.32;4.62;4.62	5.72	5.72	0.89469	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.15565	0.0375	M	0.68952	2.095	0.80722	D	1	D	0.89917	1.0	D	0.76575	0.988	T	0.00022	-1.2342	10	0.87932	D	0	.	19.8868	0.96915	0.0:1.0:0.0:0.0	.	337	Q13315	ATM_HUMAN	C	337	ENSP00000435747:R337C;ENSP00000278616:R337C;ENSP00000388058:R337C	ENSP00000278616:R337C	R	+	1	0	ATM	107623008	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	4.213000	0.58520	2.709000	0.92574	0.655000	0.94253	CGT		0.323	ATM-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389938.1	NM_000051		34	21	0	0	0	1	0	34	21					T	108117798	C	T	108117798	3	4	342	1	0	0	0	0	1	0	0	0	1109	884	31	2	1035	2	ATM	11	108117798	Missense_Mutation	SNP	C	TCGA-KK-A8IF-01A-11D-A364-08	4993723	108117798	26888718	16	17318											
OR8D2	283160	broad.mit.edu	37	chr11	124189196	124189196	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cctagtcatcttcttcagtgCatttttcacatccttgttcc	6	18	4	13	0	5	0	3	0	2	0	7	0	7	0	3	0	1	2	3	0	1	7			TCGA-KK-A8IF-01A-11D-A364-08	TCGA-KK-A8IF-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0af96576-f308-4fec-bda0-f431f6531409	727485ca-631f-41a3-8f98-7450503b45f0	g.chr11:124189196C>T	ENST00000357438.2	-	1	988	c.898G>A	c.(898-900)Gca>Aca	p.A300T		NM_001002918.1	NP_001002918.1	Q9GZM6	OR8D2_HUMAN	olfactory receptor, family 8, subfamily D, member 2	300						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	25		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0525)		TTCTTCAGTGCATTTTTCACA	0.393																																						ENST00000357438.2																			0				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	25						c.(898-900)Gca>Aca		olfactory receptor, family 8, subfamily D, member 2							110	111	110					11																	124189196		2201	4299	6500	SO:0001583	missense	283160				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:124189196C>T	AF162668	CCDS31707.1	11q24.1	2012-08-09			ENSG00000197263	ENSG00000197263		"GPCR / Class A : Olfactory receptors"	8482	protein-coding gene	gene with protein product							Standard	NM_001002918		Approved		uc010sah.2	Q9GZM6	OTTHUMG00000165978	ENST00000357438.2:c.898G>A	11.37:g.124189196C>T	ENSP00000350022:p.Ala300Thr						p.A300T	NM_001002918.1	NP_001002918.1	Q9GZM6	OR8D2_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0525)	1	988	-		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	300					B9EH49|Q6IFR0	Missense_Mutation	SNP	ENST00000357438.2	37	c.898G>A	CCDS31707.1	.	.	.	.	.	.	.	.	.	.	c	11.97	1.798059	0.31777	.	.	ENSG00000197263	ENST00000357438	T	0.42131	0.98	3.33	3.33	0.38152	.	0.139993	0.32401	N	0.006145	T	0.46983	0.1421	M	0.86805	2.84	0.09310	N	1	B	0.22541	0.071	B	0.17722	0.019	T	0.51505	-0.8697	10	0.66056	D	0.02	.	10.8307	0.46659	0.0:0.8985:0.0:0.1015	.	300	Q9GZM6	OR8D2_HUMAN	T	300	ENSP00000350022:A300T	ENSP00000350022:A300T	A	-	1	0	OR8D2	123694406	0.000000	0.05858	0.124000	0.21820	0.138000	0.21146	-0.027000	0.12371	2.202000	0.70862	0.523000	0.50628	GCA		0.393	OR8D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387286.1	NM_001002918		37	50	0	0	0	1	0	37	50					T	124189196	C	T	124189196	3	4	342	1	0	0	0	0	1	0	0	0	11232	710	25	3	40	3	OR8D2	11	124189196	Missense_Mutation	SNP	C	TCGA-KK-A8IF-01A-11D-A364-08	16071398	124189196	10817320	17	17319											
PANX3	116337	broad.mit.edu	37	chr11	124489288	124489288	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gtggctacctacctcctgagGaactccctcttgctcatctt	6	13	7	15	0	3	1	1	1	2	0	5	2	5	2	4	2	4	2	4	2	3	4			TCGA-KK-A8IF-01A-11D-A364-08	TCGA-KK-A8IF-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0af96576-f308-4fec-bda0-f431f6531409	727485ca-631f-41a3-8f98-7450503b45f0	g.chr11:124489288G>A	ENST00000284288.2	+	4	703	c.636G>A	c.(634-636)agG>agA	p.R212R		NM_052959.2	NP_443191.1	Q96QZ0	PANX3_HUMAN	pannexin 3	212					cell-cell signaling (GO:0007267)|ion transport (GO:0006811)|protein hexamerization (GO:0034214)|transmembrane transport (GO:0055085)	gap junction (GO:0005921)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	gap junction hemi-channel activity (GO:0055077)			NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(10)|prostate(2)|skin(2)|urinary_tract(1)	26	all_hematologic(175;0.215)	Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0219)		ACCTCCTGAGGAACTCCCTCT	0.498																																						ENST00000284288.2																			0				NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(10)|prostate(2)|skin(2)|urinary_tract(1)	26						c.(634-636)agG>agA		pannexin 3							151	105	121					11																	124489288		2201	4299	6500	SO:0001819	synonymous_variant	116337				protein hexamerization	gap junction|integral to membrane	gap junction hemi-channel activity|ion channel activity	g.chr11:124489288G>A	AF406650	CCDS8447.1	11q24.2	2011-12-02			ENSG00000154143	ENSG00000154143		"Ion channels / Pannexins"	20573	protein-coding gene	gene with protein product		608422					Standard	NM_052959		Approved	Px3	uc001qah.3	Q96QZ0	OTTHUMG00000165925	ENST00000284288.2:c.636G>A	11.37:g.124489288G>A							p.R212R	NM_052959.2	NP_443191.1	Q96QZ0	PANX3_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0219)	4	703	+	all_hematologic(175;0.215)	Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	212						Silent	SNP	ENST00000284288.2	37	c.636G>A	CCDS8447.1																																																																																				0.498	PANX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387064.1			18	16	0	0	0	1	0	18	16					A	124489288	G	A	124489288	2	1	342	1	0	0	0	0	0	0	0	1	11422	1165	41	3		3	PANX3	11	124489288	Silent	SNP	G	TCGA-KK-A8IF-01A-11D-A364-08	300092	124489288	10517228	18	17320			1	39		5	4	349	N	G	1.391934e-11
PANX3	116337	broad.mit.edu	37	chr11	124489568	124489568	+	Missense_Mutation	SNP	G	G	A																															aacgacttttatctgtctatGagatgctcccagcttttgat																										TCGA-KK-A8IF-01A-11D-A364-08	TCGA-KK-A8IF-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0af96576-f308-4fec-bda0-f431f6531409	727485ca-631f-41a3-8f98-7450503b45f0	g.chr11:124489568G>A	ENST00000284288.2	+	4	983	c.916G>A	c.(916-918)Gag>Aag	p.E306K		NM_052959.2	NP_443191.1	Q96QZ0	PANX3_HUMAN	pannexin 3	306					cell-cell signaling (GO:0007267)|ion transport (GO:0006811)|protein hexamerization (GO:0034214)|transmembrane transport (GO:0055085)	gap junction (GO:0005921)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	gap junction hemi-channel activity (GO:0055077)			NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(10)|prostate(2)|skin(2)|urinary_tract(1)	26	all_hematologic(175;0.215)	Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0219)		ATCTGTCTATGAGATGCTCCC	0.443																																						ENST00000284288.2																			0				NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(10)|prostate(2)|skin(2)|urinary_tract(1)	26						c.(916-918)Gag>Aag		pannexin 3							146	132	137					11																	124489568		2201	4299	6500	SO:0001583	missense	116337				protein hexamerization	gap junction|integral to membrane	gap junction hemi-channel activity|ion channel activity	g.chr11:124489568G>A	AF406650	CCDS8447.1	11q24.2	2011-12-02			ENSG00000154143	ENSG00000154143		"Ion channels / Pannexins"	20573	protein-coding gene	gene with protein product		608422					Standard	NM_052959		Approved	Px3	uc001qah.3	Q96QZ0	OTTHUMG00000165925	ENST00000284288.2:c.916G>A	11.37:g.124489568G>A	ENSP00000284288:p.Glu306Lys						p.E306K	NM_052959.2	NP_443191.1	Q96QZ0	PANX3_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0219)	4	983	+	all_hematologic(175;0.215)	Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	306						Missense_Mutation	SNP	ENST00000284288.2	37	c.916G>A	CCDS8447.1	.	.	.	.	.	.	.	.	.	.	G	32	5.169966	0.94768	.	.	ENSG00000154143	ENST00000284288	T	0.22336	1.96	5.5	5.5	0.81552	.	0.048637	0.85682	D	0.000000	T	0.34948	0.0915	M	0.71206	2.165	0.54753	D	0.999981	P	0.52316	0.952	P	0.46419	0.516	T	0.21245	-1.0251	10	0.72032	D	0.01	-11.8119	19.3982	0.94617	0.0:0.0:1.0:0.0	.	306	Q96QZ0	PANX3_HUMAN	K	306	ENSP00000284288:E306K	ENSP00000284288:E306K	E	+	1	0	PANX3	123994778	1.000000	0.71417	1.000000	0.80357	0.928000	0.56348	9.258000	0.95555	2.589000	0.87451	0.561000	0.74099	GAG		0.443	PANX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387064.1			21	45	0	0	0	1	0	21	45					A	124489568	G	A	124489568	3	1	342	1	0	0	0	0	1	0	0	0	11422	1291	45	3	930	3	PANX3	11	124489568	Missense_Mutation	SNP	G	TCGA-KK-A8IF-01A-11D-A364-08	280	124489568	10516948	19	17321	87	2	1	39		5	4	349	N	G	1.391934e-11
PANX3	116337	broad.mit.edu	37	chr11	124489570	124489570	+	Silent	SNP	G	G	A																															cgacttttatctgtctatgaGatgctcccagcttttgatct																										TCGA-KK-A8IF-01A-11D-A364-08	TCGA-KK-A8IF-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0af96576-f308-4fec-bda0-f431f6531409	727485ca-631f-41a3-8f98-7450503b45f0	g.chr11:124489570G>A	ENST00000284288.2	+	4	985	c.918G>A	c.(916-918)gaG>gaA	p.E306E		NM_052959.2	NP_443191.1	Q96QZ0	PANX3_HUMAN	pannexin 3	306					cell-cell signaling (GO:0007267)|ion transport (GO:0006811)|protein hexamerization (GO:0034214)|transmembrane transport (GO:0055085)	gap junction (GO:0005921)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	gap junction hemi-channel activity (GO:0055077)			NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(10)|prostate(2)|skin(2)|urinary_tract(1)	26	all_hematologic(175;0.215)	Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0219)		CTGTCTATGAGATGCTCCCAG	0.453																																						ENST00000284288.2																			0				NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(10)|prostate(2)|skin(2)|urinary_tract(1)	26						c.(916-918)gaG>gaA		pannexin 3							151	136	141					11																	124489570		2201	4299	6500	SO:0001819	synonymous_variant	116337				protein hexamerization	gap junction|integral to membrane	gap junction hemi-channel activity|ion channel activity	g.chr11:124489570G>A	AF406650	CCDS8447.1	11q24.2	2011-12-02			ENSG00000154143	ENSG00000154143		"Ion channels / Pannexins"	20573	protein-coding gene	gene with protein product		608422					Standard	NM_052959		Approved	Px3	uc001qah.3	Q96QZ0	OTTHUMG00000165925	ENST00000284288.2:c.918G>A	11.37:g.124489570G>A							p.E306E	NM_052959.2	NP_443191.1	Q96QZ0	PANX3_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0219)	4	985	+	all_hematologic(175;0.215)	Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	306						Silent	SNP	ENST00000284288.2	37	c.918G>A	CCDS8447.1																																																																																				0.453	PANX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387064.1			22	46	0	0	0	1	0	22	46					A	124489570	G	A	124489570	2	1	342	1	0	0	0	0	0	0	0	1	11422	933	33	3		3	PANX3	11	124489570	Silent	SNP	G	TCGA-KK-A8IF-01A-11D-A364-08	2	124489570	10516946	20	17322	87	2	1	39		5	4	349	N	G	1.391934e-11
PANX3	116337	broad.mit.edu	37	chr11	124489586	124489586	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atgagatgctcccagcttttGatctcctcagcagaaagatg	11	11	9	10	0	2	4	1	2	1	3	4	5	3	4	2	0	3	3	2	0	1	2			TCGA-KK-A8IF-01A-11D-A364-08	TCGA-KK-A8IF-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0af96576-f308-4fec-bda0-f431f6531409	727485ca-631f-41a3-8f98-7450503b45f0	g.chr11:124489586G>C	ENST00000284288.2	+	4	1001	c.934G>C	c.(934-936)Gat>Cat	p.D312H		NM_052959.2	NP_443191.1	Q96QZ0	PANX3_HUMAN	pannexin 3	312					cell-cell signaling (GO:0007267)|ion transport (GO:0006811)|protein hexamerization (GO:0034214)|transmembrane transport (GO:0055085)	gap junction (GO:0005921)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	gap junction hemi-channel activity (GO:0055077)			NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(10)|prostate(2)|skin(2)|urinary_tract(1)	26	all_hematologic(175;0.215)	Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0219)		CCCAGCTTTTGATCTCCTCAG	0.433																																						ENST00000284288.2																			0				NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(10)|prostate(2)|skin(2)|urinary_tract(1)	26						c.(934-936)Gat>Cat		pannexin 3							150	136	141					11																	124489586		2201	4299	6500	SO:0001583	missense	116337				protein hexamerization	gap junction|integral to membrane	gap junction hemi-channel activity|ion channel activity	g.chr11:124489586G>C	AF406650	CCDS8447.1	11q24.2	2011-12-02			ENSG00000154143	ENSG00000154143		"Ion channels / Pannexins"	20573	protein-coding gene	gene with protein product		608422					Standard	NM_052959		Approved	Px3	uc001qah.3	Q96QZ0	OTTHUMG00000165925	ENST00000284288.2:c.934G>C	11.37:g.124489586G>C	ENSP00000284288:p.Asp312His						p.D312H	NM_052959.2	NP_443191.1	Q96QZ0	PANX3_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0219)	4	1001	+	all_hematologic(175;0.215)	Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	312						Missense_Mutation	SNP	ENST00000284288.2	37	c.934G>C	CCDS8447.1	.	.	.	.	.	.	.	.	.	.	G	17.27	3.347140	0.61183	.	.	ENSG00000154143	ENST00000284288	T	0.21932	1.98	5.5	5.5	0.81552	.	0.096234	0.64402	D	0.000001	T	0.47060	0.1425	M	0.65975	2.015	0.43394	D	0.995511	D	0.89917	1.0	D	0.71184	0.972	T	0.39121	-0.9629	10	0.59425	D	0.04	-12.5435	19.3982	0.94617	0.0:0.0:1.0:0.0	.	312	Q96QZ0	PANX3_HUMAN	H	312	ENSP00000284288:D312H	ENSP00000284288:D312H	D	+	1	0	PANX3	123994796	1.000000	0.71417	1.000000	0.80357	0.787000	0.44495	7.430000	0.80321	2.589000	0.87451	0.561000	0.74099	GAT		0.433	PANX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387064.1			17	47	0	0	0	1	0	17	47					C	124489586	G	C	124489586	3	2	342	1	0	0	0	0	1	0	0	0	11422	1290	45	5	948	5	PANX3	11	124489586	Missense_Mutation	SNP	G	TCGA-KK-A8IF-01A-11D-A364-08	16	124489586	10516930	21	17323			1	39		5	4	349	N	G	1.391934e-11
PANX3	116337	broad.mit.edu	37	chr11	124489636	124489636	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cccatcaatgacctcaatgtGatccttcttttcctccgagc	8	13	5	15	1	3	2	2	2	1	0	6	3	6	2	5	0	1	0	5	0	2	3	rs376063465		TCGA-KK-A8IF-01A-11D-A364-08	TCGA-KK-A8IF-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0af96576-f308-4fec-bda0-f431f6531409	727485ca-631f-41a3-8f98-7450503b45f0	g.chr11:124489636G>C	ENST00000284288.2	+	4	1051	c.984G>C	c.(982-984)gtG>gtC	p.V328V		NM_052959.2	NP_443191.1	Q96QZ0	PANX3_HUMAN	pannexin 3	328					cell-cell signaling (GO:0007267)|ion transport (GO:0006811)|protein hexamerization (GO:0034214)|transmembrane transport (GO:0055085)	gap junction (GO:0005921)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	gap junction hemi-channel activity (GO:0055077)			NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(10)|prostate(2)|skin(2)|urinary_tract(1)	26	all_hematologic(175;0.215)	Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0219)		ACCTCAATGTGATCCTTCTTT	0.453																																						ENST00000284288.2																			0				NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(10)|prostate(2)|skin(2)|urinary_tract(1)	26						c.(982-984)gtG>gtC		pannexin 3							174	152	159					11																	124489636		2201	4299	6500	SO:0001819	synonymous_variant	116337				protein hexamerization	gap junction|integral to membrane	gap junction hemi-channel activity|ion channel activity	g.chr11:124489636G>C	AF406650	CCDS8447.1	11q24.2	2011-12-02			ENSG00000154143	ENSG00000154143		"Ion channels / Pannexins"	20573	protein-coding gene	gene with protein product		608422					Standard	NM_052959		Approved	Px3	uc001qah.3	Q96QZ0	OTTHUMG00000165925	ENST00000284288.2:c.984G>C	11.37:g.124489636G>C							p.V328V	NM_052959.2	NP_443191.1	Q96QZ0	PANX3_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0219)	4	1051	+	all_hematologic(175;0.215)	Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	328						Silent	SNP	ENST00000284288.2	37	c.984G>C	CCDS8447.1																																																																																				0.453	PANX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387064.1			31	40	0	0	0	1	0	31	40					C	124489636	G	C	124489636	2	2	342	1	0	0	0	0	0	0	0	1	11422	1277	45	5		5	PANX3	11	124489636	Silent	SNP	G	TCGA-KK-A8IF-01A-11D-A364-08	50	124489636	10516880	22	17324			1	39		5	4	349	N	G	1.391934e-11
ATF7	11016	broad.mit.edu	37	chr12	53917100	53917100	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ttctgtagtgcagtgactggGcagtctttatgagctaacag	9	13	12	7	0	2	2	0	2	2	0	2	2	2	2	0	1	3	4	0	1	3	5			TCGA-KK-A8IF-01A-11D-A364-08	TCGA-KK-A8IF-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0af96576-f308-4fec-bda0-f431f6531409	727485ca-631f-41a3-8f98-7450503b45f0	g.chr12:53917100G>A	ENST00000548446.2	-	11	1339	c.1227C>T	c.(1225-1227)tgC>tgT	p.C409C	ATF7_ENST00000456903.4_Silent_p.C398C|ATF7_ENST00000328463.7_Silent_p.C409C|RP11-793H13.10_ENST00000591834.1_Silent_p.C398C|ATF7_ENST00000415113.1_Silent_p.C377C|ATF7_ENST00000546661.1_5'UTR|ATF7_ENST00000420353.2_Silent_p.C398C			P17544	ATF7_HUMAN	activating transcription factor 7	409	Essential for binding adenovirus 2 E1A.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nuclear periphery (GO:0034399)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|metal ion binding (GO:0046872)|mitogen-activated protein kinase binding (GO:0051019)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|skin(1)|urinary_tract(1)	9					Pseudoephedrine(DB00852)	CAGTGACTGGGCAGTCTTTAT	0.448																																						ENST00000420353.2																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|skin(1)|urinary_tract(1)	9						c.(1192-1194)tgC>tgT		activating transcription factor 7							158	147	150					12																	53917100		1968	4158	6126	SO:0001819	synonymous_variant	11016				interspecies interaction between organisms	cytoplasm|nuclear periphery|nucleoplasm	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr12:53917100G>A	X52943	CCDS44906.1, CCDS58238.1	12q13	2013-01-10				ENSG00000170653		"basic leucine zipper proteins"	792	protein-coding gene	gene with protein product		606371				1694576, 11278933	Standard	NM_006856		Approved	ATFA	uc001sdz.3	P17544	OTTHUMG00000169776	ENST00000548446.2:c.1227C>T	12.37:g.53917100G>A						ATF7_ENST00000415113.1_Silent_p.C377C|ATF7_ENST00000548446.2_Silent_p.C409C|ATF7_ENST00000456903.4_Silent_p.C398C|ATF7_ENST00000546661.1_5'UTR|ATF7_ENST00000328463.7_Silent_p.C409C|RP11-793H13.10_ENST00000591834.1_Silent_p.C398C	p.C398C	NM_006856.2	NP_006847.1	P17544	ATF7_HUMAN			11	1343	-			409			Essential for binding adenovirus 2 E1A.|Leucine-zipper.		A5D6Y4|B2RMP1|B4DQL4|Q13814|Q8IVR8|Q9UD83	Silent	SNP	ENST00000548446.2	37	c.1194C>T																																																																																					0.448	ATF7-007	KNOWN	NMD_exception|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000406302.2	NM_001130059		3	50	0	0	0	1	0	3	50					A	53917100	G	A	53917100	2	1	342	1	0	0	0	0	0	0	0	1	1086	1195	42	3		3	ATF7	12	53917100	Silent	SNP	G	TCGA-KK-A8IF-01A-11D-A364-08		53917100	79934795	23	17325											
KERA	11081	broad.mit.edu	37	chr12	91449367	91449367	+	Frame_Shift_Del	DEL	T	T	-																															taggaatcacattaaaataaTtttctggtattccttcaatg																										TCGA-KK-A8IF-01A-11D-A364-08	TCGA-KK-A8IF-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0af96576-f308-4fec-bda0-f431f6531409	727485ca-631f-41a3-8f98-7450503b45f0	g.chr12:91449367delT	ENST00000266719.3	-	2	939	c.692delA	c.(691-693)aatfs	p.N231fs		NM_007035.3	NP_008966.1	O60938	KERA_HUMAN	keratocan	231					carbohydrate metabolic process (GO:0005975)|cornea development in camera-type eye (GO:0061303)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|response to stimulus (GO:0050896)|small molecule metabolic process (GO:0044281)|visual perception (GO:0007601)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)				breast(2)|large_intestine(8)|lung(5)|prostate(2)|skin(2)	19						ATTAAAATAATTTTCTGGTAT	0.373																																						ENST00000266719.3																			0				breast(2)|large_intestine(8)|lung(5)|prostate(2)|skin(2)	19						c.(691-693)atfs		keratocan							104	104	104					12																	91449367		2203	4299	6502	SO:0001589	frameshift_variant	11081				response to stimulus|visual perception	proteinaceous extracellular matrix		g.chr12:91449367delT	AF063301	CCDS9037.1	12q21.3-q22	2014-09-17				ENSG00000139330		"Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"	6309	protein-coding gene	gene with protein product	"keratocan proteoglycan"	603288		CNA2		10565548, 10802664	Standard	NM_007035		Approved	SLRR2B	uc001tbl.3	O60938		ENST00000266719.3:c.692delA	12.37:g.91449367delT	ENSP00000266719:p.Asn231fs						p.N231fs	NM_007035.3	NP_008966.1	O60938	KERA_HUMAN			2	939	-			231						Frame_Shift_Del	DEL	ENST00000266719.3	37	c.692delA	CCDS9037.1																																																																																				0.373	KERA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407149.2	NM_007035		7	108						7	108	---	---	---	---	-	91449367	T	-	91449367	7	5	342	1	0	1	0	1	0	0	0	0	8143	1493	52	0	374	0	KERA	12	91449367	Frame_Shift_Del	DEL	T	TCGA-KK-A8IF-01A-11D-A364-08	37532267	91449367	42402528	24	17326											
KL	9365	broad.mit.edu	37	chr13	33628320	33628320	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaccatcctcaaatatttatTgtggaaaatggctggtttgt	12	15	8	6	0	1	0	1	0	0	0	2	1	2	1	2	3	1	2	2	3	6	5			TCGA-KK-A8IF-01A-11D-A364-08	TCGA-KK-A8IF-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0af96576-f308-4fec-bda0-f431f6531409	727485ca-631f-41a3-8f98-7450503b45f0	g.chr13:33628320T>A	ENST00000380099.3	+	2	1244	c.1236T>A	c.(1234-1236)atT>atA	p.I412I	KL_ENST00000487852.1_3'UTR|KL_ENST00000426690.2_Silent_p.I105I	NM_004795.3	NP_004786.2	Q9UEF7	KLOT_HUMAN	klotho	412	Glycosyl hydrolase-1 1.				acute inflammatory response (GO:0002526)|aging (GO:0007568)|calcium ion homeostasis (GO:0055074)|carbohydrate metabolic process (GO:0005975)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of bone mineralization (GO:0030501)|positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway (GO:0090080)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	beta-glucosidase activity (GO:0008422)|beta-glucuronidase activity (GO:0004566)|fibroblast growth factor binding (GO:0017134)|signal transducer activity (GO:0004871)|vitamin D binding (GO:0005499)			breast(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|skin(5)	41	all_epithelial(80;0.133)	Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;7.13e-230)|all cancers(112;1.33e-165)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-113)|Epithelial(112;3.79e-112)|Lung(94;8.52e-27)|LUSC - Lung squamous cell carcinoma(192;1.4e-13)|Kidney(163;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(186;5.63e-08)|BRCA - Breast invasive adenocarcinoma(63;1.41e-05)		AAATATTTATTGTGGAAAATG	0.403																																						ENST00000380099.3																			0				breast(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|skin(5)	41						c.(1234-1236)atT>atA		klotho							128	134	132					13																	33628320		2203	4300	6503	SO:0001819	synonymous_variant	9365				aging|carbohydrate metabolic process|insulin receptor signaling pathway|positive regulation of bone mineralization	extracellular space|integral to membrane|integral to plasma membrane|membrane fraction|soluble fraction	beta-glucosidase activity|beta-glucuronidase activity|cation binding|fibroblast growth factor binding|hormone activity|signal transducer activity|vitamin D binding	g.chr13:33628320T>A	AB005142	CCDS9347.1	13q12	2008-02-05			ENSG00000133116	ENSG00000133116			6344	protein-coding gene	gene with protein product		604824				9464267	Standard	NM_004795		Approved		uc001uus.3	Q9UEF7	OTTHUMG00000017408	ENST00000380099.3:c.1236T>A	13.37:g.33628320T>A						KL_ENST00000487852.1_3'UTR|KL_ENST00000426690.2_Silent_p.I105I	p.I412I	NM_004795.3	NP_004786.2	Q9UEF7	KLOT_HUMAN		GBM - Glioblastoma multiforme(144;7.13e-230)|all cancers(112;1.33e-165)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-113)|Epithelial(112;3.79e-112)|Lung(94;8.52e-27)|LUSC - Lung squamous cell carcinoma(192;1.4e-13)|Kidney(163;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(186;5.63e-08)|BRCA - Breast invasive adenocarcinoma(63;1.41e-05)	2	1244	+	all_epithelial(80;0.133)	Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262)	412			Glycosyl hydrolase-1 1.		Q5VZ95|Q96KV5|Q96KW5|Q9UEI9|Q9Y4F0	Silent	SNP	ENST00000380099.3	37	c.1236T>A	CCDS9347.1																																																																																				0.403	KL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045987.1			7	73	0	0	0	1	0	7	73					A	33628320	T	A	33628320	2	1	342	1	0	0	0	0	0	0	0	1	8331	1800	63	5		5	KL	13	33628320	Silent	SNP	T	TCGA-KK-A8IF-01A-11D-A364-08		33628320	81541558	25	17327											
LCP1	3936	broad.mit.edu	37	chr13	46701744	46701744	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cctcacaccctcttcattccTttccccatgaggcaggcaaa	9	10	5	17	0	3	1	2	1	1	0	5	1	5	1	5	2	0	2	5	2	1	3			TCGA-KK-A8IF-01A-11D-A364-08	TCGA-KK-A8IF-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0af96576-f308-4fec-bda0-f431f6531409	727485ca-631f-41a3-8f98-7450503b45f0	g.chr13:46701744T>C	ENST00000398576.2	-	19	2254	c.1866A>G	c.(1864-1866)aaA>aaG	p.K622K	LCP1_ENST00000323076.2_Silent_p.K622K|LCP1_ENST00000435666.2_Silent_p.K191K			P13796	PLSL_HUMAN	lymphocyte cytosolic protein 1 (L-plastin)	622	Actin-binding 2.|CH 4. {ECO:0000255|PROSITE- ProRule:PRU00044}.				actin filament bundle assembly (GO:0051017)|cell migration (GO:0016477)|organ regeneration (GO:0031100)|protein kinase A signaling (GO:0010737)|regulation of intracellular protein transport (GO:0033157)|T cell activation involved in immune response (GO:0002286)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|actin filament bundle (GO:0032432)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|phagocytic cup (GO:0001891)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)			breast(2)|kidney(1)|large_intestine(6)|lung(18)|ovary(4)|prostate(2)|skin(1)	34		Lung NSC(96;1.27e-05)|Breast(56;8.04e-05)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;5.39e-05)		TCTTCATTCCTTTCCCCATGA	0.562			T	BCL6	NHL																																	ENST00000398576.2				Dom	yes		13	13q14.1-q14.3	3936	T	lymphocyte cytosolic protein 1 (L-plastin)			L	BCL6		NHL		0				breast(2)|kidney(1)|large_intestine(6)|lung(18)|ovary(4)|prostate(2)|skin(1)	34						c.(1864-1866)aaA>aaG		lymphocyte cytosolic protein 1 (L-plastin)							152	135	141					13																	46701744		2203	4300	6503	SO:0001819	synonymous_variant	3936				regulation of intracellular protein transport|T cell activation involved in immune response	cell junction|cytosol|ruffle membrane	calcium ion binding	g.chr13:46701744T>C	M22300	CCDS9403.1	13q14.3	2013-01-10			ENSG00000136167	ENSG00000136167		"EF-hand domain containing"	6528	protein-coding gene	gene with protein product	"plastin 2"	153430				2111166	Standard	NM_002298		Approved	PLS2, CP64, L-PLASTIN, LC64P	uc001vba.4	P13796	OTTHUMG00000016864	ENST00000398576.2:c.1866A>G	13.37:g.46701744T>C						LCP1_ENST00000435666.2_Silent_p.K191K|LCP1_ENST00000323076.2_Silent_p.K622K	p.K622K			P13796	PLSL_HUMAN	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;5.39e-05)	19	2254	-		Lung NSC(96;1.27e-05)|Breast(56;8.04e-05)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	622			Actin-binding 2.|CH 4.		B2R613|B4DUA0|Q5TBN4	Silent	SNP	ENST00000398576.2	37	c.1866A>G	CCDS9403.1																																																																																				0.562	LCP1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044800.3	NM_002298		4	45	0	0	0	1	0	4	45					C	46701744	T	C	46701744	2	2	342	1	0	0	0	0	0	0	0	1	8691	1606	56	4		4	LCP1	13	46701744	Silent	SNP	T	TCGA-KK-A8IF-01A-11D-A364-08	13073424	46701744	68468134	26	17328											
FOXA1	3169	broad.mit.edu	37	chr14	38061312	38061312	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgccaccttgacgaagcagTcattgaaggacagcgagtgg	11	7	14	9	2	1	2	1	2	0	0	1	5	1	3	2	2	3	1	2	2	2	2			TCGA-KK-A8IF-01A-11D-A364-08	TCGA-KK-A8IF-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0af96576-f308-4fec-bda0-f431f6531409	727485ca-631f-41a3-8f98-7450503b45f0	g.chr14:38061312T>C	ENST00000250448.2	-	2	738	c.677A>G	c.(676-678)gAc>gGc	p.D226G	FOXA1_ENST00000540786.1_Missense_Mutation_p.D193G|FOXA1_ENST00000545425.2_5'UTR	NM_004496.3	NP_004487.2	P55317	FOXA1_HUMAN	forkhead box A1	226					anatomical structure formation involved in morphogenesis (GO:0048646)|chromatin remodeling (GO:0006338)|dorsal/ventral neural tube patterning (GO:0021904)|epithelial cell maturation involved in prostate gland development (GO:0060743)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|epithelial-mesenchymal signaling involved in prostate gland development (GO:0060738)|glucose homeostasis (GO:0042593)|hormone metabolic process (GO:0042445)|lung epithelial cell differentiation (GO:0060487)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron fate specification (GO:0048665)|positive regulation of cell-cell adhesion mediated by cadherin (GO:2000049)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prostate gland epithelium morphogenesis (GO:0060740)|prostate gland stromal morphogenesis (GO:0060741)|response to estradiol (GO:0032355)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)	microvillus (GO:0005902)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|endometrium(1)|large_intestine(2)|lung(3)|prostate(12)	19	Breast(36;0.0954)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		Lung(238;5.41e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0454)|LUSC - Lung squamous cell carcinoma(13;0.0917)|all cancers(34;0.0925)|BRCA - Breast invasive adenocarcinoma(188;0.239)	GBM - Glioblastoma multiforme(112;0.0222)		GACGAAGCAGTCATTGAAGGA	0.607																																						ENST00000250448.2																			0				breast(1)|endometrium(1)|large_intestine(2)|lung(3)|prostate(12)	19						c.(676-678)gAc>gGc		forkhead box A1							49	48	49					14																	38061312		2203	4300	6503	SO:0001583	missense	3169				chromatin remodeling|embryo development|epithelial cell maturation involved in prostate gland development|epithelial tube branching involved in lung morphogenesis|epithelial-mesenchymal signaling involved in prostate gland development|glucose homeostasis|lung epithelial cell differentiation|negative regulation of survival gene product expression|neuron fate specification|pattern specification process|positive regulation of estrogen receptor signaling pathway|positive regulation of mitotic cell cycle|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|prostate gland epithelium morphogenesis|prostate gland stromal morphogenesis|response to estradiol stimulus|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development	transcription factor complex	DNA bending activity|double-stranded DNA binding|protein domain specific binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding	g.chr14:38061312T>C	U39840	CCDS9665.1	14q12-q13	2008-04-10		2002-09-20	ENSG00000129514	ENSG00000129514		"Forkhead boxes"	5021	protein-coding gene	gene with protein product		602294	"hepatocyte nuclear factor 3, alpha"	HNF3A		9119385, 8652662	Standard	NM_004496		Approved		uc001wuf.4	P55317	OTTHUMG00000140253	ENST00000250448.2:c.677A>G	14.37:g.38061312T>C	ENSP00000250448:p.Asp226Gly					FOXA1_ENST00000540786.1_Missense_Mutation_p.D193G|FOXA1_ENST00000545425.2_5'UTR	p.D226G	NM_004496.3	NP_004487.2	P55317	FOXA1_HUMAN	Lung(238;5.41e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0454)|LUSC - Lung squamous cell carcinoma(13;0.0917)|all cancers(34;0.0925)|BRCA - Breast invasive adenocarcinoma(188;0.239)	GBM - Glioblastoma multiforme(112;0.0222)	2	738	-	Breast(36;0.0954)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		226					B2R9H6|B7ZAP5|Q9H2A0	Missense_Mutation	SNP	ENST00000250448.2	37	c.677A>G	CCDS9665.1	.	.	.	.	.	.	.	.	.	.	T	23.3	4.394232	0.83011	.	.	ENSG00000129514	ENST00000250448;ENST00000540786	D;D	0.95690	-3.78;-3.78	4.0	4.0	0.46444	Winged helix-turn-helix transcription repressor DNA-binding (1);Transcription factor, fork head (4);	0.000000	0.85682	D	0.000000	D	0.97093	0.9050	M	0.85099	2.735	0.80722	D	1	P	0.44627	0.839	P	0.56788	0.806	D	0.97601	1.0123	10	0.87932	D	0	.	12.0003	0.53226	0.0:0.0:0.0:1.0	.	226	P55317	FOXA1_HUMAN	G	226;193	ENSP00000250448:D226G;ENSP00000440178:D193G	ENSP00000250448:D226G	D	-	2	0	FOXA1	37131063	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.761000	0.85260	1.671000	0.50874	0.329000	0.21502	GAC		0.607	FOXA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276735.1			11	12	0	0	0	1	0	11	12					C	38061312	T	C	38061312	3	2	342	1	0	0	0	0	1	0	0	0	5989	1667	58	4	745	4	FOXA1	14	38061312	Missense_Mutation	SNP	T	TCGA-KK-A8IF-01A-11D-A364-08		38061312	69288228	27	17329											
PLEKHG3	26030	broad.mit.edu	37	chr14	65209152	65209152	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctgtctacaggaagaggctGgagagccattaggtggcaaa	12	7	14	8	0	1	2	0	0	1	2	1	4	1	3	2	5	2	2	2	5	4	2			TCGA-KK-A8IF-01A-11D-A364-08	TCGA-KK-A8IF-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0af96576-f308-4fec-bda0-f431f6531409	727485ca-631f-41a3-8f98-7450503b45f0	g.chr14:65209152G>A	ENST00000394691.1	+	16	3064	c.2917G>A	c.(2917-2919)Gga>Aga	p.G973R	PLEKHG3_ENST00000247226.7_Missense_Mutation_p.G917R|PLEKHG3_ENST00000471182.2_Missense_Mutation_p.G506R|PLEKHG3_ENST00000492928.1_Intron|PLEKHG3_ENST00000484731.2_Missense_Mutation_p.G478R			A1L390	PKHG3_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 3	973							Rho guanyl-nucleotide exchange factor activity (GO:0005089)			endometrium(5)|kidney(2)|large_intestine(1)|lung(14)|prostate(2)|skin(3)|urinary_tract(2)	29				all cancers(60;0.00802)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)|BRCA - Breast invasive adenocarcinoma(234;0.0485)		GGAAGAGGCTGGAGAGCCATT	0.587																																						ENST00000247226.7																			0				endometrium(5)|kidney(2)|large_intestine(1)|lung(14)|prostate(2)|skin(3)|urinary_tract(2)	29						c.(2749-2751)Gga>Aga		pleckstrin homology domain containing, family G (with RhoGef domain) member 3							22	23	23					14																	65209152		2200	4293	6493	SO:0001583	missense	26030				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	g.chr14:65209152G>A	AB011171	CCDS32098.1	14q23.3	2013-01-10	2004-12-01	2004-12-01	ENSG00000126822	ENSG00000126822		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	20364	protein-coding gene	gene with protein product			"KIAA0599"	KIAA0599			Standard	XM_005267511		Approved	ARHGEF43	uc001xhp.2	A1L390	OTTHUMG00000029671	ENST00000394691.1:c.2917G>A	14.37:g.65209152G>A	ENSP00000378183:p.Gly973Arg					PLEKHG3_ENST00000394691.1_Missense_Mutation_p.G973R|PLEKHG3_ENST00000492928.1_Intron|PLEKHG3_ENST00000484731.2_Missense_Mutation_p.G478R|PLEKHG3_ENST00000471182.2_Missense_Mutation_p.G506R	p.G917R	NM_015549.1	NP_056364.1	A1L390	PKHG3_HUMAN		all cancers(60;0.00802)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)|BRCA - Breast invasive adenocarcinoma(234;0.0485)	14	3057	+			973					A1L389|B5MEC9|O60339|Q6GMS3|Q6P4B1|Q7L3S3|Q86SW7|Q8TEF5|Q96EW6|Q9BT82	Missense_Mutation	SNP	ENST00000394691.1	37	c.2749G>A		.	.	.	.	.	.	.	.	.	.	G	10.38	1.332903	0.24167	.	.	ENSG00000126822	ENST00000247226;ENST00000394691;ENST00000471182;ENST00000484731	T;T;T;T	0.60920	0.6;0.15;1.5;1.5	5.73	0.44	0.16572	.	0.667617	0.13799	N	0.361989	T	0.43722	0.1260	L	0.50919	1.6	0.09310	N	1	B;B;B;B	0.20671	0.047;0.047;0.009;0.029	B;B;B;B	0.22386	0.039;0.039;0.004;0.01	T	0.31110	-0.9955	10	0.35671	T	0.21	.	2.3622	0.04310	0.1457:0.2321:0.4045:0.2177	.	506;478;973;917	A1L390-2;G3V311;A1L390;A1L390-3	.;.;PKHG3_HUMAN;.	R	917;973;506;478	ENSP00000247226:G917R;ENSP00000378183:G973R;ENSP00000450945:G506R;ENSP00000450973:G478R	ENSP00000247226:G917R	G	+	1	0	PLEKHG3	64278905	0.000000	0.05858	0.001000	0.08648	0.008000	0.06430	0.328000	0.19681	0.328000	0.23435	-0.169000	0.13324	GGA		0.587	PLEKHG3-010	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000412028.1	NM_015549		10	16	0	0	0	1	0	10	16					A	65209152	G	A	65209152	3	1	342	1	0	0	0	0	1	0	0	0	12070	1349	47	3	2799	3	PLEKHG3	14	65209152	Missense_Mutation	SNP	G	TCGA-KK-A8IF-01A-11D-A364-08	27147840	65209152	42140388	28	17330											
HAPLN3	145864	broad.mit.edu	37	chr15	89430419	89430419	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgcctacctttgccatgaccGttgcctaggttctggtcgtt	4	14	10	13	3	1	1	0	1	1	0	2	1	1	1	5	2	3	3	5	2	2	6			TCGA-KK-A8IF-01A-11D-A364-08	TCGA-KK-A8IF-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0af96576-f308-4fec-bda0-f431f6531409	727485ca-631f-41a3-8f98-7450503b45f0	g.chr15:89430419G>A	ENST00000359595.3	-	2	325	c.111C>T	c.(109-111)aaC>aaT	p.N37N	HAPLN3_ENST00000562889.1_Silent_p.N99N	NM_178232.2	NP_839946.1	Q96S86	HPLN3_HUMAN	hyaluronan and proteoglycan link protein 3	37					cell adhesion (GO:0007155)	extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	hyaluronic acid binding (GO:0005540)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)	17	Lung NSC(78;0.0392)|all_lung(78;0.077)				Hyaluronan(DB08818)	TGCCATGACCGTTGCCTAGGT	0.607																																						ENST00000359595.3																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)	17						c.(109-111)aaC>aaT		hyaluronan and proteoglycan link protein 3							138	125	129					15																	89430419		2200	4299	6499	SO:0001819	synonymous_variant	145864				cell adhesion	proteinaceous extracellular matrix	hyaluronic acid binding	g.chr15:89430419G>A	AY262759	CCDS10346.1	15q26.1	2013-01-11			ENSG00000140511	ENSG00000140511		"Immunoglobulin superfamily / V-set domain containing"	21446	protein-coding gene	gene with protein product			"extracellular link domain containing, 1"	EXLD1		12663660	Standard	NM_178232		Approved	HsT19883	uc002bnc.3	Q96S86	OTTHUMG00000148680	ENST00000359595.3:c.111C>T	15.37:g.89430419G>A						HAPLN3_ENST00000562889.1_Silent_p.N99N	p.N37N	NM_178232.2	NP_839946.1	Q96S86	HPLN3_HUMAN			2	325	-	Lung NSC(78;0.0392)|all_lung(78;0.077)		37					A8K7P0	Silent	SNP	ENST00000359595.3	37	c.111C>T	CCDS10346.1																																																																																				0.607	HAPLN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309070.1	NM_178232		3	59	0	0	0	1	0	3	59					A	89430419	G	A	89430419	2	1	342	1	0	0	0	0	0	0	0	1	6956	1136	40	1		1	HAPLN3	15	89430419	Silent	SNP	G	TCGA-KK-A8IF-01A-11D-A364-08		89430419	13100973	29	17331											
TMC7	79905	broad.mit.edu	37	chr16	19020721	19020721	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attatgcactgaacatctctGagaagcggagactaaggttt	13	11	10	7	1	1	3	0	2	1	2	2	5	1	3	0	2	3	2	0	2	4	3			TCGA-KK-A8IF-01A-11D-A364-08	TCGA-KK-A8IF-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0af96576-f308-4fec-bda0-f431f6531409	727485ca-631f-41a3-8f98-7450503b45f0	g.chr16:19020721G>T	ENST00000304381.5	+	2	425	c.295G>T	c.(295-297)Gag>Tag	p.E99*	TMC7_ENST00000569532.1_Nonsense_Mutation_p.E99*|TMC7_ENST00000421369.3_5'UTR|RNU6-1340P_ENST00000384438.1_RNA	NM_024847.3	NP_079123.3	Q7Z402	TMC7_HUMAN	transmembrane channel-like 7	99					ion transport (GO:0006811)	integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	28						GAACATCTCTGAGAAGCGGAG	0.468																																						ENST00000304381.5																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	28						c.(295-297)Gag>Tag		transmembrane channel-like 7							93	95	94					16																	19020721		2197	4300	6497	SO:0001587	stop_gained	79905					integral to membrane		g.chr16:19020721G>T	AY263165	CCDS10573.1, CCDS53992.1, CCDS73837.1	16p13.11	2008-02-05			ENSG00000170537	ENSG00000170537			23000	protein-coding gene	gene with protein product						12812529, 12906855	Standard	XM_005255597		Approved	FLJ21240	uc002dfq.3	Q7Z402	OTTHUMG00000131456	ENST00000304381.5:c.295G>T	16.37:g.19020721G>T	ENSP00000304710:p.Glu99*					TMC7_ENST00000569532.1_Nonsense_Mutation_p.E99*|TMC7_ENST00000421369.3_5'UTR	p.E99*	NM_024847.3	NP_079123.3	Q7Z402	TMC7_HUMAN			2	425	+			99					E7ERB6|Q5H9Q8|Q7Z5M4|Q86WX0|Q9H766	Nonsense_Mutation	SNP	ENST00000304381.5	37	c.295G>T	CCDS10573.1	.	.	.	.	.	.	.	.	.	.	G	38	6.772982	0.97829	.	.	ENSG00000170537	ENST00000304381	.	.	.	5.83	5.83	0.93111	.	0.169008	0.51477	D	0.000095	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.30078	T	0.28	.	15.6163	0.76769	0.0:0.0:1.0:0.0	.	.	.	.	X	99	.	ENSP00000304710:E99X	E	+	1	0	TMC7	18928222	0.999000	0.42202	0.980000	0.43619	0.956000	0.61745	3.532000	0.53553	2.756000	0.94617	0.655000	0.94253	GAG		0.468	TMC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254276.3	NM_024847		4	152	1	0	2.56e-06	1	2.66667e-06	4	152					T	19020721	G	T	19020721	4	4	342	1	0	0	0	0	0	1	0	0	15987	1291	45	5	301	5	TMC7	16	19020721	Nonsense_Mutation	SNP	G	TCGA-KK-A8IF-01A-11D-A364-08		19020721	71334032	30	17332											
CMIP	80790	broad.mit.edu	37	chr16	81735396	81735396	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgtgaccggcagcgggagctGaaggagctggtgagtccccg	7	6	18	10	3	0	3	0	3	0	0	1	5	1	5	3	4	3	3	3	4	1	0			TCGA-KK-A8IF-01A-11D-A364-08	TCGA-KK-A8IF-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0af96576-f308-4fec-bda0-f431f6531409	727485ca-631f-41a3-8f98-7450503b45f0	g.chr16:81735396G>A	ENST00000537098.3	+	16	1959	c.1887G>A	c.(1885-1887)ctG>ctA	p.L629L	CMIP_ENST00000539778.2_Silent_p.L535L|CMIP_ENST00000566513.1_3'UTR|CMIP_ENST00000398040.4_Silent_p.L476L	NM_198390.2	NP_938204.2	Q8IY22	CMIP_HUMAN	c-Maf inducing protein	629						cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(5)|kidney(1)|lung(7)	13						AGCGGGAGCTGAAGGAGCTGG	0.652																																						ENST00000537098.3																			0				endometrium(5)|kidney(1)|lung(7)	13						c.(1885-1887)ctG>ctA		c-Maf inducing protein							86	92	90					16																	81735396		2100	4225	6325	SO:0001819	synonymous_variant	80790					cytoplasm|nucleus		g.chr16:81735396G>A	AB051481	CCDS54044.1, CCDS54045.1	16q23	2011-08-04			ENSG00000153815	ENSG00000153815			24319	protein-coding gene	gene with protein product		610112				11214970, 12939343	Standard	NM_030629		Approved		uc002fgp.3	Q8IY22		ENST00000537098.3:c.1887G>A	16.37:g.81735396G>A						CMIP_ENST00000539778.2_Silent_p.L535L|CMIP_ENST00000398040.4_Silent_p.L476L|CMIP_ENST00000566513.1_3'UTR	p.L629L	NM_198390.2	NP_938204.2	Q8IY22	CMIP_HUMAN			16	1959	+			595					Q9C0G9	Silent	SNP	ENST00000537098.3	37	c.1887G>A	CCDS54044.1																																																																																				0.652	CMIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432399.2	NM_030629		4	56	0	0	0	1	0	4	56					A	81735396	G	A	81735396	2	1	342	1	0	0	0	0	0	0	0	1	3578	1277	45	3		3	CMIP	16	81735396	Silent	SNP	G	TCGA-KK-A8IF-01A-11D-A364-08	62714675	81735396	8619357	31	17333											
ACACA	31	broad.mit.edu	37	chr17	35605581	35605581	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgtattcagaagtgtatgaGcaggaaggacttgacccctg	11	10	12	8	0	1	3	1	2	0	1	1	5	1	5	2	2	1	3	2	2	4	4			TCGA-KK-A8IF-01A-11D-A364-08	TCGA-KK-A8IF-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0af96576-f308-4fec-bda0-f431f6531409	727485ca-631f-41a3-8f98-7450503b45f0	g.chr17:35605581G>A	ENST00000394406.2	-	17	2178	c.1988C>T	c.(1987-1989)gCt>gTt	p.A663V	ACACA_ENST00000353139.5_Missense_Mutation_p.A700V|ACACA_ENST00000335166.5_Missense_Mutation_p.A585V|ACACA_ENST00000360679.3_Missense_Mutation_p.A605V	NM_198836.1	NP_942133.1	Q13085	ACACA_HUMAN	acetyl-CoA carboxylase alpha	663					acetyl-CoA metabolic process (GO:0006084)|biotin metabolic process (GO:0006768)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|lipid homeostasis (GO:0055088)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|malonyl-CoA biosynthetic process (GO:2001295)|multicellular organismal protein metabolic process (GO:0044268)|positive regulation of cellular metabolic process (GO:0031325)|protein homotetramerization (GO:0051289)|small molecule metabolic process (GO:0044281)|tissue homeostasis (GO:0001894)|triglyceride biosynthetic process (GO:0019432)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	acetyl-CoA carboxylase activity (GO:0003989)|ATP binding (GO:0005524)|biotin carboxylase activity (GO:0004075)|metal ion binding (GO:0046872)			NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	AAGTGTATGAGCAGGAAGGAC	0.378																																					Colon(23;82 258 739 2117 10493 24037 27661 34815 35438 36249)	ENST00000353139.5																			0				NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83						c.(2098-2100)gCt>gTt		acetyl-CoA carboxylase alpha	Biotin(DB00121)						107	96	100					17																	35605581		2203	4300	6503	SO:0001583	missense	31				acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding	g.chr17:35605581G>A	U19822	CCDS11317.1, CCDS11318.1, CCDS42302.1, CCDS42303.1	17q21	2014-05-06	2010-04-30		ENSG00000132142	ENSG00000278540	6.4.1.2		84	protein-coding gene	gene with protein product	"acetyl-CoA carboxylase 1"	200350	"acetyl-Coenzyme A carboxylase alpha"	ACAC, ACC			Standard	NM_198837		Approved	ACC1	uc002hno.3	Q13085	OTTHUMG00000188463	ENST00000394406.2:c.1988C>T	17.37:g.35605581G>A	ENSP00000377928:p.Ala663Val					ACACA_ENST00000360679.3_Missense_Mutation_p.A605V|ACACA_ENST00000335166.5_Missense_Mutation_p.A585V|ACACA_ENST00000394406.2_Missense_Mutation_p.A663V	p.A700V	NM_198834.1|NM_198839.1	NP_942131.1|NP_942136.1	Q13085	ACACA_HUMAN			17	2580	-		Breast(25;0.00157)|Ovarian(249;0.15)	663					B2RP68|Q6KEV6|Q6XDA8|Q7Z2G8|Q7Z561|Q7Z563|Q7Z564|Q86WB2|Q86WB3	Missense_Mutation	SNP	ENST00000394406.2	37	c.2099C>T	CCDS11317.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.132953	0.77662	.	.	ENSG00000132142	ENST00000353139;ENST00000360679;ENST00000394406;ENST00000452074;ENST00000335166	D;D;D;D	0.95377	-3.69;-3.68;-3.69;-3.68	5.79	5.79	0.91817	.	0.000000	0.85682	D	0.000000	D	0.94696	0.8289	L	0.48642	1.525	0.80722	D	1	P;B;B	0.35033	0.481;0.039;0.065	B;B;B	0.41510	0.359;0.017;0.055	D	0.93466	0.6815	10	0.41790	T	0.15	-14.8771	19.0281	0.92941	0.0:0.0:1.0:0.0	.	700;663;605	Q13085-4;Q13085;Q13085-2	.;ACACA_HUMAN;.	V	700;605;663;687;585	ENSP00000344789:A700V;ENSP00000353898:A605V;ENSP00000377928:A663V;ENSP00000335323:A585V	ENSP00000335323:A585V	A	-	2	0	ACACA	32679694	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.537000	0.98070	2.733000	0.93635	0.655000	0.94253	GCT		0.378	ACACA-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256696.1	NM_198836		34	66	0	0	0	1	0	34	66					A	35605581	G	A	35605581	3	1	342	1	0	0	0	0	1	0	0	0	106	971	34	3	5212	3	ACACA	17	35605581	Missense_Mutation	SNP	G	TCGA-KK-A8IF-01A-11D-A364-08		35605581	45589629	32	17334											
SPOP	8405	broad.mit.edu	37	chr17	47696433	47696433	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgaatttcttgaatccccaGtctttgccttgcacaaacct	10	14	5	12	0	2	2	0	2	2	0	3	2	3	2	4	0	3	1	4	0	3	4			TCGA-KK-A8IF-01A-11D-A364-08	TCGA-KK-A8IF-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0af96576-f308-4fec-bda0-f431f6531409	727485ca-631f-41a3-8f98-7450503b45f0	g.chr17:47696433G>C	ENST00000393328.2	-	6	755	c.390C>G	c.(388-390)gaC>gaG	p.D130E	SPOP_ENST00000347630.2_Missense_Mutation_p.D130E|SPOP_ENST00000513080.1_5'Flank|SPOP_ENST00000504102.1_Missense_Mutation_p.D130E|SPOP_ENST00000503676.1_Missense_Mutation_p.D130E|SPOP_ENST00000393331.3_Missense_Mutation_p.D130E	NM_003563.3	NP_003554.1	O43791	SPOP_HUMAN	speckle-type POZ protein	130	Important for binding substrate proteins.|MATH. {ECO:0000255|PROSITE- ProRule:PRU00129}.|Required for nuclear localization.				glucose homeostasis (GO:0042593)|positive regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902237)|positive regulation of type B pancreatic cell apoptotic process (GO:2000676)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	Cul3-RING ubiquitin ligase complex (GO:0031463)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	ubiquitin protein ligase binding (GO:0031625)			endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						TGAATCCCCAGTCTTTGCCTT	0.453										Prostate(2;0.17)																												ENST00000393331.3																			0				endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						c.(388-390)gaC>gaG		speckle-type POZ protein							121	124	123					17																	47696433		2203	4300	6503	SO:0001583	missense	8405				mRNA processing	nucleus	protein binding	g.chr17:47696433G>C	AJ000644	CCDS11551.1	17q21.33	2013-01-09			ENSG00000121067	ENSG00000121067		"BTB/POZ domain containing"	11254	protein-coding gene	gene with protein product		602650				9414087	Standard	NM_001007227		Approved	TEF2, BTBD32	uc002ipg.3	O43791	OTTHUMG00000161496	ENST00000393328.2:c.390C>G	17.37:g.47696433G>C	ENSP00000377001:p.Asp130Glu	Prostate(2;0.17)				SPOP_ENST00000504102.1_Missense_Mutation_p.D130E|SPOP_ENST00000393328.2_Missense_Mutation_p.D130E|SPOP_ENST00000347630.2_Missense_Mutation_p.D130E|SPOP_ENST00000503676.1_Missense_Mutation_p.D130E	p.D130E	NM_001007226.1|NM_001007227.1	NP_001007227.1|NP_001007228.1	O43791	SPOP_HUMAN			7	860	-			130			MATH.|Required for nuclear localization.		B2R6S3|D3DTW7|Q53HJ1	Missense_Mutation	SNP	ENST00000393328.2	37	c.390C>G	CCDS11551.1	.	.	.	.	.	.	.	.	.	.	G	15.92	2.975753	0.53720	.	.	ENSG00000121067	ENST00000393328;ENST00000393331;ENST00000347630;ENST00000504102;ENST00000503536;ENST00000503676;ENST00000513872;ENST00000509079;ENST00000505581;ENST00000507970;ENST00000514121	T;T;T;T;T;T;T;T;T	0.42513	0.97;0.97;0.97;0.97;0.97;0.97;0.97;0.97;0.97	5.41	4.44	0.53790	TRAF-type (1);TRAF-like (1);MATH (3);	0.000000	0.85682	D	0.000000	T	0.40909	0.1136	L	0.58969	1.84	0.80722	D	1	B	0.16802	0.019	B	0.23716	0.048	T	0.25537	-1.0129	10	0.30078	T	0.28	-0.0348	13.6659	0.62396	0.0743:0.0:0.9257:0.0	.	130	O43791	SPOP_HUMAN	E	130;130;130;130;14;130;83;130;130;130;130	ENSP00000377001:D130E;ENSP00000377004:D130E;ENSP00000240327:D130E;ENSP00000425905:D130E;ENSP00000420908:D130E;ENSP00000426986:D130E;ENSP00000420960:D130E;ENSP00000426262:D130E;ENSP00000424119:D130E	ENSP00000240327:D130E	D	-	3	2	SPOP	45051432	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.688000	0.61715	1.511000	0.48818	0.563000	0.77884	GAC		0.453	SPOP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365154.2	NM_003563		47	70	0	0	0	1	0	47	70					C	47696433	G	C	47696433	3	2	342	1	0	0	0	0	1	0	0	0	15083	1020	36	5	758	5	SPOP	17	47696433	Missense_Mutation	SNP	G	TCGA-KK-A8IF-01A-11D-A364-08	12090852	47696433	33498777	33	17335											
SMCHD1	23347	broad.mit.edu	37	chr18	2770030	2770030	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcagcacttacaaaagaaaaGgaccaattatctcagtctat	17	9	6	9	0	2	1	1	0	2	1	3	2	2	2	1	1	2	2	1	1	8	3			TCGA-KK-A8IF-01A-11D-A364-08	TCGA-KK-A8IF-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0af96576-f308-4fec-bda0-f431f6531409	727485ca-631f-41a3-8f98-7450503b45f0	g.chr18:2770030G>T	ENST00000320876.6	+	39	5228	c.4890G>T	c.(4888-4890)aaG>aaT	p.K1630N	RP11-703M24.5_ENST00000583546.1_RNA|SMCHD1_ENST00000261598.8_Missense_Mutation_p.K1630N	NM_015295.2	NP_056110.2	A6NHR9	SMHD1_HUMAN	structural maintenance of chromosomes flexible hinge domain containing 1	1630					chromosome organization (GO:0051276)|inactivation of X chromosome by DNA methylation (GO:0060821)	Barr body (GO:0001740)	ATP binding (GO:0005524)			NS(3)|breast(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(16)|lung(15)|pancreas(1)	45						CAAAAGAAAAGGACCAATTAT	0.269																																						ENST00000320876.6																			0				NS(3)|breast(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(16)|lung(15)|pancreas(1)	45						c.(4888-4890)aaG>aaT		structural maintenance of chromosomes flexible hinge domain containing 1							67	63	64					18																	2770030		1800	4078	5878	SO:0001583	missense	23347				chromosome organization		ATP binding	g.chr18:2770030G>T	AB014550	CCDS45822.1	18p11.32	2010-05-12			ENSG00000101596	ENSG00000101596			29090	protein-coding gene	gene with protein product		614982				9734811	Standard	NM_015295		Approved	KIAA0650	uc002klm.4	A6NHR9		ENST00000320876.6:c.4890G>T	18.37:g.2770030G>T	ENSP00000326603:p.Lys1630Asn					RP11-703M24.5_ENST00000583546.1_RNA|SMCHD1_ENST00000261598.8_Missense_Mutation_p.K1630N	p.K1630N	NM_015295.2	NP_056110.2	A6NHR9	SMHD1_HUMAN			39	5228	+			1630					O75141|Q6AHX6|Q6ZTQ8|Q9H6Q2|Q9UG39	Missense_Mutation	SNP	ENST00000320876.6	37	c.4890G>T	CCDS45822.1	.	.	.	.	.	.	.	.	.	.	G	15.13	2.742261	0.49151	.	.	ENSG00000101596	ENST00000320876;ENST00000261598	T;T	0.28069	1.63;1.63	5.76	3.66	0.41972	.	0.092770	0.64402	D	0.000001	T	0.28134	0.0694	L	0.59436	1.845	0.34888	D	0.745268	P	0.46706	0.883	B	0.39706	0.307	T	0.48864	-0.8997	10	0.66056	D	0.02	-13.8935	9.0872	0.36587	0.2938:0.0:0.7062:0.0	.	1630	A6NHR9	SMHD1_HUMAN	N	1630	ENSP00000326603:K1630N;ENSP00000261598:K1630N	ENSP00000261598:K1630N	K	+	3	2	SMCHD1	2760030	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	1.215000	0.32431	1.436000	0.47453	0.655000	0.94253	AAG		0.269	SMCHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441082.2			17	34	1	0	3.41278e-10	1	3.63062e-10	17	34					T	2770030	G	T	2770030	3	4	342	1	0	0	0	0	1	0	0	0	14788	991	35	5	5044	5	SMCHD1	18	2770030	Missense_Mutation	SNP	G	TCGA-KK-A8IF-01A-11D-A364-08		2770030	75307218	34	17336											
FBN3	84467	broad.mit.edu	37	chr19	8203374	8203374	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtcacagcagcactgcctgcGagtgtagtggccggcgaggt	7	7	16	11	3	1	0	1	0	0	0	1	2	1	0	2	3	4	3	2	3	1	1			TCGA-KK-A8IF-01A-11D-A364-08	TCGA-KK-A8IF-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0af96576-f308-4fec-bda0-f431f6531409	727485ca-631f-41a3-8f98-7450503b45f0	g.chr19:8203374G>A	ENST00000600128.1	-	9	1354	c.940C>T	c.(940-942)Cgc>Tgc	p.R314C	FBN3_ENST00000601739.1_Missense_Mutation_p.R314C|FBN3_ENST00000270509.2_Missense_Mutation_p.R314C			Q75N90	FBN3_HUMAN	fibrillin 3	314	TB 2.					proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						CACTGCCTGCGAGTGTAGTGG	0.662																																						ENST00000600128.1																			0				NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						c.(940-942)Cgc>Tgc		fibrillin 3							25	27	26					19																	8203374		2203	4298	6501	SO:0001583	missense	84467					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent	g.chr19:8203374G>A		CCDS12196.1	19p13	2008-02-05							18794	protein-coding gene	gene with protein product		608529					Standard	NM_032447		Approved		uc002mjf.3	Q75N90		ENST00000600128.1:c.940C>T	19.37:g.8203374G>A	ENSP00000470498:p.Arg314Cys					FBN3_ENST00000601739.1_Missense_Mutation_p.R314C|FBN3_ENST00000270509.2_Missense_Mutation_p.R314C	p.R314C			Q75N90	FBN3_HUMAN			9	1354	-			314			TB 2.		Q75N91|Q75N92|Q75N93|Q86SJ5|Q96JP8	Missense_Mutation	SNP	ENST00000600128.1	37	c.940C>T	CCDS12196.1	.	.	.	.	.	.	.	.	.	.	g	18.61	3.661176	0.67700	.	.	ENSG00000142449	ENST00000270509	D	0.93019	-3.15	4.06	2.87	0.33458	Matrix fibril-associated (3);TGF-beta binding (1);	0.360841	0.26975	U	0.021550	D	0.92169	0.7517	L	0.38175	1.15	0.30038	N	0.812858	D	0.71674	0.998	P	0.57846	0.828	D	0.88063	0.2795	10	0.59425	D	0.04	.	9.1061	0.36698	0.0:0.0:0.5077:0.4923	.	314	Q75N90	FBN3_HUMAN	C	314	ENSP00000270509:R314C	ENSP00000270509:R314C	R	-	1	0	FBN3	8109374	1.000000	0.71417	0.146000	0.22360	0.559000	0.35586	6.198000	0.72106	1.974000	0.57490	0.556000	0.70494	CGC		0.662	FBN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461428.2	NM_032447		11	18	0	0	0	1	0	11	18					A	8203374	G	A	8203374	3	1	342	1	0	0	0	0	1	0	0	0	5704	1058	37	2	7713	2	FBN3	19	8203374	Missense_Mutation	SNP	G	TCGA-KK-A8IF-01A-11D-A364-08		8203374	50925609	35	17337											
TFAP2C	7022	broad.mit.edu	37	chr20	55208584	55208594	+	Frame_Shift_Del	DEL	TGAATGCTTAA	TGAATGCTTAA	-																															cagaggcgactgtccccaccTgaatgcttaaatgcctcgtt																										TCGA-KK-A8IF-01A-11D-A364-08	TCGA-KK-A8IF-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0af96576-f308-4fec-bda0-f431f6531409	727485ca-631f-41a3-8f98-7450503b45f0	g.chr20:55208584_55208594delTGAATGCTTAA	ENST00000201031.2	+	4	1005_1015	c.762_772delTGAATGCTTAA	c.(760-774)cctgaatgcttaaatfs	p.ECLN255fs	TFAP2C_ENST00000544508.1_Frame_Shift_Del_p.ECLN86fs	NM_003222.3	NP_003213.1	Q92754	AP2C_HUMAN	transcription factor AP-2 gamma (activating enhancer binding protein 2 gamma)	255					cell-cell signaling (GO:0007267)|cerebral cortex development (GO:0021987)|dichotomous subdivision of terminal units involved in mammary gland duct morphogenesis (GO:0060598)|epithelial cell proliferation involved in mammary gland duct elongation (GO:0060750)|forebrain neuron fate commitment (GO:0021877)|germ-line stem cell maintenance (GO:0030718)|hair follicle development (GO:0001942)|keratinocyte development (GO:0003334)|male gonad development (GO:0008584)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of epidermis development (GO:0045682)|regulation of gene expression, epigenetic (GO:0040029)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|sebaceous gland development (GO:0048733)|somatic stem cell maintenance (GO:0035019)|trophectodermal cell differentiation (GO:0001829)	nucleus (GO:0005634)	core promoter binding (GO:0001047)|DNA binding (GO:0003677)|protein dimerization activity (GO:0046983)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	13			Colorectal(105;0.229)			TGTCCCCACCTGAATGCTTAAATGCCTCGTT	0.512																																						ENST00000201031.2																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						c.(760-774)ccatfs		transcription factor AP-2 gamma (activating enhancer binding protein 2 gamma)																																				SO:0001589	frameshift_variant	7022				cell-cell signaling|male gonad development|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity	g.chr20:55208584_55208594delTGAATGCTTAA		CCDS13454.1	20q13.2	2008-07-17	2001-11-28		ENSG00000087510	ENSG00000087510			11744	protein-coding gene	gene with protein product	"estrogen receptor factor 1"	601602	"transcription factor AP-2 gamma (activating enhancer-binding protein 2 gamma)"			8661133	Standard	NM_003222		Approved	AP2-GAMMA, ERF1, TFAP2G, hAP-2g	uc002xya.3	Q92754	OTTHUMG00000032805	ENST00000201031.2:c.762_772delTGAATGCTTAA	20.37:g.55208584_55208594delTGAATGCTTAA	ENSP00000201031:p.Glu255fs					TFAP2C_ENST00000544508.1_Frame_Shift_Del_p.PECLN85fs	p.PECLN254fs	NM_003222.3	NP_003213.1	Q92754	AP2C_HUMAN	Colorectal(105;0.229)		4	1005_1015	+			254					B4DWK3|O00685|O00730|Q86V30|Q8IVB6|Q9P1X2	Frame_Shift_Del	DEL	ENST00000201031.2	37	c.762_772delTGAATGCTTAA	CCDS13454.1																																																																																				0.512	TFAP2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079823.2	NM_003222		12	62						12	62	---	---	---	---	-	55208594	TGAATGCTTAA	-	55208584	7	5	342	1	0	1	0	1	0	0	0	0	15786	1567	55	0	776	0	TFAP2C	20	55208584	Frame_Shift_Del	DEL	TGAATGCTTAA	TCGA-KK-A8IF-01A-11D-A364-08		55208584	7816936	36	17338											
BIRC7	79444	broad.mit.edu	37	chr20	61870925	61870925	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccccatctgcagagcccccGtccgcagccgcgtgcgcacc	5	4	11	21	5	1	1	0	0	1	1	2	1	2	1	7	0	4	3	7	0	0	0			TCGA-KK-A8IF-01A-11D-A364-08	TCGA-KK-A8IF-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0af96576-f308-4fec-bda0-f431f6531409	727485ca-631f-41a3-8f98-7450503b45f0	g.chr20:61870925G>A	ENST00000217169.3	+	6	1079	c.865G>A	c.(865-867)Gtc>Atc	p.V289I	MIR3196_ENST00000579556.1_RNA|BIRC7_ENST00000342412.6_Missense_Mutation_p.V271I|NKAIN4_ENST00000466885.1_5'Flank|BIRC7_ENST00000395306.1_Missense_Mutation_p.V184I	NM_139317.1	NP_647478.1	Q96CA5	BIRC7_HUMAN	baculoviral IAP repeat containing 7	289					activation of JUN kinase activity (GO:0007257)|apoptotic process (GO:0006915)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endopeptidase activity (GO:0010951)|protein ubiquitination (GO:0016567)|regulation of cell proliferation (GO:0042127)|regulation of natural killer cell apoptotic process (GO:0070247)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	cysteine-type endopeptidase inhibitor activity (GO:0004869)|enzyme binding (GO:0019899)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.V289I(1)		endometrium(1)|kidney(1)|lung(9)|ovary(1)	12	all_cancers(38;2.72e-09)					CAGAGCCCCCGTCCGCAGCCG	0.726																																						ENST00000217169.3																			1	Substitution - Missense(1)	p.V289I(1)	ovary(1)	endometrium(1)|kidney(1)|lung(9)|ovary(1)	12						c.(865-867)Gtc>Atc		baculoviral IAP repeat containing 7							39	34	36					20																	61870925		2198	4294	6492	SO:0001583	missense	79444				activation of JUN kinase activity|anti-apoptosis|DNA fragmentation involved in apoptotic nuclear change	cytoplasm|nucleus	enzyme binding|zinc ion binding	g.chr20:61870925G>A	AF301009	CCDS13512.1, CCDS13513.1	20q13.3	2011-01-25	2011-01-25		ENSG00000101197	ENSG00000101197		"Baculoviral IAP repeat containing", "RING-type (C3HC4) zinc fingers"	13702	protein-coding gene	gene with protein product	"melanoma inhibitor of apoptosis protein", "kidney inhibitor of apoptosis protein", "livin inhibitor-of-apoptosis", "livin"	605737	"baculoviral IAP repeat-containing 7"			11024045, 11162435	Standard	NM_139317		Approved	mliap, ML-IAP, KIAP, RNF50	uc002yej.3	Q96CA5	OTTHUMG00000032957	ENST00000217169.3:c.865G>A	20.37:g.61870925G>A	ENSP00000217169:p.Val289Ile					BIRC7_ENST00000342412.6_Missense_Mutation_p.V271I|BIRC7_ENST00000395306.1_Missense_Mutation_p.V184I	p.V289I	NM_139317.1	NP_647478.1	Q96CA5	BIRC7_HUMAN			6	1079	+	all_cancers(38;2.72e-09)		289					Q9BQV0|Q9H2A8|Q9HAP7	Missense_Mutation	SNP	ENST00000217169.3	37	c.865G>A	CCDS13513.1	.	.	.	.	.	.	.	.	.	.	G	0.037	-1.302570	0.01353	.	.	ENSG00000101197	ENST00000342412;ENST00000217169;ENST00000395306	T;T;T	0.75477	-0.94;-0.94;-0.94	4.89	2.45	0.29901	Zinc finger, RING/FYVE/PHD-type (1);	0.346149	0.20409	N	0.092900	T	0.40171	0.1106	N	0.01618	-0.8	0.28115	N	0.930828	B;B	0.14438	0.01;0.008	B;B	0.13407	0.009;0.004	T	0.37934	-0.9684	10	0.02654	T	1	.	9.1433	0.36917	0.8846:0.0:0.1154:0.0	.	289;271	Q96CA5;Q96CA5-2	BIRC7_HUMAN;.	I	271;289;184	ENSP00000345213:V271I;ENSP00000217169:V289I;ENSP00000378717:V184I	ENSP00000217169:V289I	V	+	1	0	BIRC7	61341370	0.860000	0.29831	0.017000	0.16124	0.006000	0.05464	1.667000	0.37471	0.178000	0.19917	0.467000	0.42956	GTC		0.726	BIRC7-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080114.2	NM_139317		21	11	0	0	0	1	0	21	11					A	61870925	G	A	61870925	3	1	342	1	0	0	0	0	1	0	0	0	1439	1145	40	1	887	1	BIRC7	20	61870925	Missense_Mutation	SNP	G	TCGA-KK-A8IF-01A-11D-A364-08	6662341	61870925	1154595	37	17339											
TBX1	6899	broad.mit.edu	37	chr22	19754359	19754359	+	Intron	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcgtcggccggagccgcgcCgcccggctcctacgactatt	4	7	12	18	8	0	0	0	0	0	0	3	2	1	1	5	3	2	1	5	3	2	3			TCGA-KK-A8IF-01A-11D-A364-08	TCGA-KK-A8IF-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0af96576-f308-4fec-bda0-f431f6531409	727485ca-631f-41a3-8f98-7450503b45f0	g.chr22:19754359C>G	ENST00000329705.7	+	8	1138				TBX1_ENST00000359500.3_Intron|TBX1_ENST00000332710.4_Missense_Mutation_p.P486R	NM_080646.1	NP_542377.1	O43435	TBX1_HUMAN	T-box 1						angiogenesis (GO:0001525)|anterior/posterior pattern specification (GO:0009952)|aorta morphogenesis (GO:0035909)|artery morphogenesis (GO:0048844)|blood vessel development (GO:0001568)|blood vessel morphogenesis (GO:0048514)|blood vessel remodeling (GO:0001974)|cell fate specification (GO:0001708)|cell proliferation (GO:0008283)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to retinoic acid (GO:0071300)|cochlea morphogenesis (GO:0090103)|coronary artery morphogenesis (GO:0060982)|determination of left/right symmetry (GO:0007368)|ear morphogenesis (GO:0042471)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic viscerocranium morphogenesis (GO:0048703)|enamel mineralization (GO:0070166)|epithelial cell differentiation (GO:0030855)|face morphogenesis (GO:0060325)|heart development (GO:0007507)|heart morphogenesis (GO:0003007)|inner ear morphogenesis (GO:0042472)|lymph vessel development (GO:0001945)|mesenchymal cell apoptotic process (GO:0097152)|mesoderm development (GO:0007498)|middle ear morphogenesis (GO:0042474)|muscle cell fate commitment (GO:0042693)|muscle organ development (GO:0007517)|muscle organ morphogenesis (GO:0048644)|muscle tissue morphogenesis (GO:0060415)|negative regulation of cell differentiation (GO:0045596)|negative regulation of mesenchymal cell apoptotic process (GO:2001054)|neural crest cell migration (GO:0001755)|odontogenesis of dentin-containing tooth (GO:0042475)|otic vesicle morphogenesis (GO:0071600)|outer ear morphogenesis (GO:0042473)|outflow tract morphogenesis (GO:0003151)|outflow tract septum morphogenesis (GO:0003148)|parathyroid gland development (GO:0060017)|pattern specification process (GO:0007389)|pharyngeal system development (GO:0060037)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of secondary heart field cardioblast proliferation (GO:0072513)|positive regulation of tongue muscle cell differentiation (GO:2001037)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of organ morphogenesis (GO:2000027)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|retinoic acid receptor signaling pathway (GO:0048384)|semicircular canal morphogenesis (GO:0048752)|sensory perception of sound (GO:0007605)|social behavior (GO:0035176)|soft palate development (GO:0060023)|thymus development (GO:0048538)|thyroid gland development (GO:0030878)|tongue morphogenesis (GO:0043587)|transcription, DNA-templated (GO:0006351)|vagus nerve morphogenesis (GO:0021644)	nucleus (GO:0005634)	DNA binding (GO:0003677)|protein dimerization activity (GO:0046983)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding (GO:0043565)			breast(2)|central_nervous_system(1)|lung(3)|ovary(2)	8	Colorectal(54;0.0993)	all_lung(157;3.05e-06)				GGAGCCGCGCCGCCCGGCTCC	0.761																																						ENST00000332710.4																			0				breast(2)|central_nervous_system(1)|lung(3)|ovary(2)	8						c.(1456-1458)cCg>cGg		T-box 1																																				SO:0001627	intron_variant	6899				embryonic viscerocranium morphogenesis|heart development|parathyroid gland development|pharyngeal system development|regulation of transcription from RNA polymerase II promoter|soft palate development|thymus development	nucleus	protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr22:19754359C>G	AF012131	CCDS13765.1, CCDS13766.1, CCDS13767.1	22q11.21	2014-09-17			ENSG00000184058	ENSG00000184058		"T-boxes"	11592	protein-coding gene	gene with protein product		602054	"velocardiofacial syndrome"	VCF		9268629, 23000736	Standard	NM_080646		Approved	CATCH22	uc002zqa.1	O43435	OTTHUMG00000150421	ENST00000329705.7:c.1009+834C>G	22.37:g.19754359C>G						TBX1_ENST00000329705.7_Intron|TBX1_ENST00000359500.3_Intron	p.P486R	NM_080647.1	NP_542378.1	O43435	TBX1_HUMAN			9	1586	+	Colorectal(54;0.0993)	all_lung(157;3.05e-06)	99					C6G493|C6G494|O43436|Q96RJ2	Missense_Mutation	SNP	ENST00000329705.7	37	c.1457C>G	CCDS13766.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.224860	0.79576	.	.	ENSG00000184058	ENST00000332710	D	0.86097	-2.07	3.52	3.52	0.40303	.	0.706398	0.12115	U	0.498180	D	0.87826	0.6275	L	0.36672	1.1	0.80722	D	1	D	0.76494	0.999	D	0.79784	0.993	D	0.86316	0.1689	10	0.72032	D	0.01	.	10.8404	0.46710	0.0:1.0:0.0:0.0	.	486	D9ZGG0	.	R	486	ENSP00000331791:P486R	ENSP00000331791:P486R	P	+	2	0	TBX1	18134359	0.504000	0.26123	1.000000	0.80357	0.977000	0.68977	2.004000	0.40854	2.278000	0.76064	0.385000	0.25706	CCG		0.761	TBX1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318033.1	NM_080647		4	8	0	0	0	1	0	4	8					G	19754359	C	G	19754359	1	3	342	0	1	0	0	0	0	0	0	0	15647	652	23	5		5	TBX1	22	19754359	Intron	SNP	C	TCGA-KK-A8IF-01A-11D-A364-08		19754359	31550207	38	17340											
SCUBE1	80274	broad.mit.edu	37	chr22	43625113	43625113	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcccgtagaggatgtagccgCggtgacacaggcactggaag	10	6	15	10	3	0	2	0	1	0	1	1	4	1	4	2	4	1	3	2	4	3	2	rs201101225		TCGA-KK-A8IF-01A-11D-A364-08	TCGA-KK-A8IF-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0af96576-f308-4fec-bda0-f431f6531409	727485ca-631f-41a3-8f98-7450503b45f0	g.chr22:43625113C>T	ENST00000360835.4	-	9	1175	c.1049G>A	c.(1048-1050)cGc>cAc	p.R350H		NM_173050.3	NP_766638.2	Q8IWY4	SCUB1_HUMAN	signal peptide, CUB domain, EGF-like 1	350	EGF-like 8; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|endothelial cell differentiation (GO:0045446)|inflammatory response (GO:0006954)|post-embryonic development (GO:0009791)|protein homooligomerization (GO:0051260)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extrinsic component of plasma membrane (GO:0019897)	calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|protein heterodimerization activity (GO:0046982)			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(4)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		all_neural(38;0.0414)|Ovarian(80;0.07)				GATGTAGCCGCGGTGACACAG	0.677											OREG0026614	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C|||	1	0.000199681	8e-04	0	5008	,	,		17295	0		0	False		,,,				2504	0					ENST00000360835.3																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(4)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						c.(1048-1050)cGc>cAc		signal peptide, CUB domain, EGF-like 1							85	59	68					22																	43625113		2203	4300	6503	SO:0001583	missense	80274				adult heart development|blood coagulation|endothelial cell differentiation|inflammatory response|post-embryonic development|protein homooligomerization	external side of plasma membrane|extracellular space|extrinsic to plasma membrane	calcium ion binding|identical protein binding|protein heterodimerization activity	g.chr22:43625113C>T		CCDS14048.1	22q13	2008-07-01			ENSG00000159307	ENSG00000159307			13441	protein-coding gene	gene with protein product		611746				11087664	Standard	NM_173050		Approved		uc003bdt.2	Q8IWY4	OTTHUMG00000150679	ENST00000360835.4:c.1049G>A	22.37:g.43625113C>T	ENSP00000354080:p.Arg350His		OREG0026614	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	917		p.R350H	NM_173050.3	NP_766638.2	Q8IWY4	SCUB1_HUMAN			9	1175	-		all_neural(38;0.0414)|Ovarian(80;0.07)	350			EGF-like 8; calcium-binding (Potential).		Q5R336	Missense_Mutation	SNP	ENST00000360835.4	37	c.1049G>A	CCDS14048.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	15.69	2.908995	0.52439	.	.	ENSG00000159307	ENST00000360835	D	0.92199	-2.99	4.96	2.8	0.32819	EGF-like region, conserved site (1);EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	0.231622	0.41605	N	0.000847	D	0.82660	0.5085	N	0.16862	0.45	0.80722	D	1	B	0.13594	0.008	B	0.11329	0.006	T	0.74990	-0.3475	10	0.51188	T	0.08	.	6.3429	0.21332	0.0:0.567:0.0:0.433	.	350	Q8IWY4	SCUB1_HUMAN	H	350	ENSP00000354080:R350H	ENSP00000354080:R350H	R	-	2	0	SCUBE1	41955057	0.764000	0.28473	0.977000	0.42913	0.412000	0.31113	1.204000	0.32296	0.729000	0.32403	-0.345000	0.07892	CGC		0.677	SCUBE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319582.3	NM_173050		7	19	0	0	0	1	0	7	19					T	43625113	C	T	43625113	3	4	342	1	0	0	0	0	1	0	0	0	13944	768	27	1	1973	1	SCUBE1	22	43625113	Missense_Mutation	SNP	C	TCGA-KK-A8IF-01A-11D-A364-08	23870754	43625113	7679453	39	17341											
WNK3	65267	broad.mit.edu	37	chrX	54259322	54259322	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttgaaagatcttggtcgaCgtggtgatgcaggtggcaaa	10	12	14	5	2	1	3	0	2	1	1	2	4	1	3	0	4	1	2	0	4	2	3	rs201518613		TCGA-KK-A8IF-01A-11D-A364-08	TCGA-KK-A8IF-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0af96576-f308-4fec-bda0-f431f6531409	727485ca-631f-41a3-8f98-7450503b45f0	g.chrX:54259322C>T	ENST00000375159.2	-	20	4759	c.4760G>A	c.(4759-4761)cGt>cAt	p.R1587H	WNK3_ENST00000375169.3_Missense_Mutation_p.R1540H|WNK3_ENST00000354646.2_Missense_Mutation_p.R1587H			Q9BYP7	WNK3_HUMAN	WNK lysine deficient protein kinase 3	1587					intracellular signal transduction (GO:0035556)|negative regulation of apoptotic process (GO:0043066)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of ion transmembrane transporter activity (GO:0032414)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of rubidium ion transmembrane transporter activity (GO:2000688)|positive regulation of rubidium ion transport (GO:2000682)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of ion homeostasis (GO:2000021)	adherens junction (GO:0005912)|cytoplasm (GO:0005737)|tight junction (GO:0005923)	ATP binding (GO:0005524)|chloride channel inhibitor activity (GO:0019869)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			autonomic_ganglia(1)|biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(24)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						TCTTGGTCGACGTGGTGATGC	0.458													C|||	1	0.000264901	0	0	3775	,	,		11546	0.001		0	False		,,,				2504	0					ENST00000354646.2																			0				autonomic_ganglia(1)|biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(24)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						c.(4759-4761)cGt>cAt		WNK lysine deficient protein kinase 3							150	134	139					X																	54259322		2203	4300	6503	SO:0001583	missense	65267				intracellular protein kinase cascade|positive regulation of establishment of protein localization in plasma membrane|positive regulation of peptidyl-threonine phosphorylation|positive regulation of rubidium ion transmembrane transporter activity|positive regulation of rubidium ion transport|positive regulation of sodium ion transmembrane transporter activity|positive regulation of sodium ion transport|protein autophosphorylation	adherens junction|tight junction	ATP binding|protein binding|protein serine/threonine kinase activity|rubidium ion transmembrane transporter activity|sodium ion transmembrane transporter activity	g.chrX:54259322C>T	AJ409088	CCDS14357.1, CCDS35302.1	Xp11.22	2008-05-14	2005-01-19	2005-01-22	ENSG00000196632	ENSG00000196632			14543	protein-coding gene	gene with protein product		300358	"protein kinase, lysine deficient 3"	PRKWNK3			Standard	NM_020922		Approved		uc004dtc.2	Q9BYP7	OTTHUMG00000021626	ENST00000375159.2:c.4760G>A	X.37:g.54259322C>T	ENSP00000364301:p.Arg1587His					WNK3_ENST00000375169.3_Missense_Mutation_p.R1540H|WNK3_ENST00000375159.2_Missense_Mutation_p.R1587H	p.R1587H	NM_020922.4	NP_065973.2	Q9BYP7	WNK3_HUMAN			21	5198	-			1540					B1AKG2|Q5JRC1|Q6JP76|Q8TCX6|Q9HCK6	Missense_Mutation	SNP	ENST00000375159.2	37	c.4760G>A	CCDS14357.1	1	6.027727546714888E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	32	5.114029	0.94339	.	.	ENSG00000196632	ENST00000375169;ENST00000354646;ENST00000375159	D;D;D	0.87029	-2.2;-1.87;-1.87	5.69	5.69	0.88448	.	0.000000	0.53938	D	0.000041	D	0.93086	0.7799	M	0.69823	2.125	0.53688	D	0.999979	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.996	D	0.93693	0.7009	10	0.87932	D	0	-9.8281	17.4246	0.87522	0.0:1.0:0.0:0.0	.	1540;1587	Q9BYP7-3;Q9BYP7	.;WNK3_HUMAN	H	1540;1587;1587	ENSP00000364312:R1540H;ENSP00000346667:R1587H;ENSP00000364301:R1587H	ENSP00000346667:R1587H	R	-	2	0	WNK3	54276047	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.618000	0.74214	2.383000	0.81215	0.594000	0.82650	CGT		0.458	WNK3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056799.2	NM_020922		5	36	0	0	0	1	0	5	36					T	54259322	C	T	54259322	3	4	342	1	0	0	0	0	1	0	0	0	17376	536	19	1	658	1	WNK3	23	54259322	Missense_Mutation	SNP	C	TCGA-KK-A8IF-01A-11D-A364-08		54259322	101011238	40	17342											
EPHB2	2048	broad.mit.edu	37	chr1	23219448	23219448	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	accgtgcagggcctcaaagcCggcgccatctatgtcttcca	8	8	10	15	3	3	0	1	0	2	0	4	0	4	0	5	2	2	1	5	2	2	2			TCGA-KK-A8IG-01A-11D-A364-08	TCGA-KK-A8IG-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082edbc7-1c72-4487-8603-5f20dd332ac3	ab1b5fbe-db21-4790-94c3-f56579040952	g.chr1:23219448C>T	ENST00000400191.3	+	7	1518	c.1500C>T	c.(1498-1500)gcC>gcT	p.A500A	EPHB2_ENST00000374630.3_Silent_p.A500A|EPHB2_ENST00000374632.3_Silent_p.A500A|EPHB2_ENST00000465676.1_3'UTR|EPHB2_ENST00000374627.1_Silent_p.A495A	NM_004442.6|NM_017449.3	NP_004433.2|NP_059145.2	P29323	EPHB2_HUMAN	EPH receptor B2	500	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|camera-type eye morphogenesis (GO:0048593)|central nervous system projection neuron axonogenesis (GO:0021952)|commissural neuron axon guidance (GO:0071679)|corpus callosum development (GO:0022038)|dendritic spine development (GO:0060996)|dendritic spine morphogenesis (GO:0060997)|ephrin receptor signaling pathway (GO:0048013)|inner ear morphogenesis (GO:0042472)|learning (GO:0007612)|negative regulation of axonogenesis (GO:0050771)|nervous system development (GO:0007399)|optic nerve morphogenesis (GO:0021631)|palate development (GO:0060021)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|positive regulation of synapse assembly (GO:0051965)|regulation of body fluid levels (GO:0050878)|retinal ganglion cell axon guidance (GO:0031290)|urogenital system development (GO:0001655)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|protein tyrosine kinase activity (GO:0004713)|transmembrane-ephrin receptor activity (GO:0005005)			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(8)|stomach(1)|urinary_tract(1)	56		Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153)		GCCTCAAAGCCGGCGCCATCT	0.572																																						ENST00000400191.3																			0				NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(8)|stomach(1)|urinary_tract(1)	56						c.(1498-1500)gcC>gcT		EPH receptor B2							66	68	68					1																	23219448		2203	4300	6503	SO:0001819	synonymous_variant	2048				axon guidance	integral to plasma membrane	ATP binding|transmembrane-ephrin receptor activity	g.chr1:23219448C>T	AF025304	CCDS229.2, CCDS230.1	1p36.1-p35	2014-09-17	2004-10-28		ENSG00000133216	ENSG00000133216	2.7.10.1	"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3393	protein-coding gene	gene with protein product		600997	"EphB2"	DRT, ERK, EPHT3		1648701	Standard	NM_017449		Approved	Hek5, Tyro5	uc001bge.3	P29323	OTTHUMG00000002881	ENST00000400191.3:c.1500C>T	1.37:g.23219448C>T						EPHB2_ENST00000465676.1_3'UTR|EPHB2_ENST00000374630.3_Silent_p.A500A|EPHB2_ENST00000374627.1_Silent_p.A495A|EPHB2_ENST00000374632.3_Silent_p.A500A	p.A500A	NM_004442.6|NM_017449.3	NP_004433.2|NP_059145.2	P29323	EPHB2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153)	7	1518	+		Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258)	500			Fibronectin type-III 2.		O43477|Q5T0U6|Q5T0U7|Q5T0U8	Silent	SNP	ENST00000400191.3	37	c.1500C>T																																																																																					0.572	EPHB2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000008060.2	NM_017449		12	23	0	0	0	1	0	12	23					T	23219448	C	T	23219448	2	4	343	1	0	0	0	0	0	0	0	1	5175	639	23	2		2	EPHB2	1	23219448	Silent	SNP	C	TCGA-KK-A8IG-01A-11D-A364-08		23219448	226031173	1	17343											
AP4B1	10717	broad.mit.edu	37	chr1	114438385	114438385	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aggactgtttttacctgatgCggcaaaggatgaagttttag	11	13	12	5	1	0	2	0	2	0	0	0	4	0	4	1	3	2	3	1	3	4	5	rs190617142		TCGA-KK-A8IG-01A-11D-A364-08	TCGA-KK-A8IG-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082edbc7-1c72-4487-8603-5f20dd332ac3	ab1b5fbe-db21-4790-94c3-f56579040952	g.chr1:114438385C>T	ENST00000369569.1	-	9	2066	c.1786G>A	c.(1786-1788)Gca>Aca	p.A596T	AP4B1_ENST00000462591.1_5'UTR|AP4B1_ENST00000369567.1_Missense_Mutation_p.A428T|AP4B1_ENST00000256658.4_Missense_Mutation_p.A596T|AP4B1-AS1_ENST00000419536.1_RNA	NM_001253852.1	NP_001240781.1	Q9Y6B7	AP4B1_HUMAN	adaptor-related protein complex 4, beta 1 subunit	596					intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	clathrin adaptor complex (GO:0030131)|coated pit (GO:0005905)|trans-Golgi network (GO:0005802)	protein transporter activity (GO:0008565)|transporter activity (GO:0005215)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|ovary(3)|prostate(3)	25	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.1e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TTACCTGATGCGGCAAAGGAT	0.438													C|||	1	0.000199681	0	0.0014	5008	,	,		20263	0		0	False		,,,				2504	0					ENST00000369569.1																			0				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|ovary(3)|prostate(3)	25						c.(1786-1788)Gca>Aca		adaptor-related protein complex 4, beta 1 subunit							76	78	78					1																	114438385		2203	4300	6503	SO:0001583	missense	10717				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|soluble fraction|trans-Golgi network	protein binding|protein transporter activity	g.chr1:114438385C>T	AF092094	CCDS865.1	1p13.2	2012-03-30			ENSG00000134262	ENSG00000134262			572	protein-coding gene	gene with protein product	"beta 4 subunit of AP-4"	607245	"spastic paraplegia 47"	SPG47		10066790	Standard	NM_006594		Approved	BETA-4	uc001eeb.3	Q9Y6B7	OTTHUMG00000011943	ENST00000369569.1:c.1786G>A	1.37:g.114438385C>T	ENSP00000358582:p.Ala596Thr					AP4B1-AS1_ENST00000419536.1_RNA|AP4B1_ENST00000369567.1_Missense_Mutation_p.A428T|AP4B1_ENST00000462591.1_5'UTR|AP4B1_ENST00000256658.4_Missense_Mutation_p.A596T	p.A596T	NM_001253852.1	NP_001240781.1	Q9Y6B7	AP4B1_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	9	2066	-	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.1e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)	596					B7Z4X3|Q59EJ4|Q96CL6	Missense_Mutation	SNP	ENST00000369569.1	37	c.1786G>A	CCDS865.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	0.010	-1.795212	0.00617	.	.	ENSG00000134262	ENST00000369567;ENST00000369569;ENST00000256658	T;T;T	0.63255	-0.03;-0.03;-0.03	5.65	-7.71	0.01254	.	1.474120	0.03317	N	0.191317	T	0.08846	0.0219	N	0.03608	-0.345	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.0;0.001	T	0.05971	-1.0853	10	0.09338	T	0.73	.	1.2579	0.01995	0.1884:0.3176:0.1923:0.3018	.	596;428;596	B2RBF6;B1ALD0;Q9Y6B7	.;.;AP4B1_HUMAN	T	428;596;596	ENSP00000358580:A428T;ENSP00000358582:A596T;ENSP00000256658:A596T	ENSP00000256658:A596T	A	-	1	0	AP4B1	114239908	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.476000	0.06591	-0.704000	0.05042	-0.471000	0.05019	GCA		0.438	AP4B1-009	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033037.1	NM_006594		3	53	0	0	0	1	0	3	53					T	114438385	C	T	114438385	3	4	343	1	0	0	0	0	1	0	0	0	751	768	27	1	441	1	AP4B1	1	114438385	Missense_Mutation	SNP	C	TCGA-KK-A8IG-01A-11D-A364-08	91218937	114438385	134812236	2	17344											
LAD1	3898	broad.mit.edu	37	chr1	201356120	201356120	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ttctgtgtggcctgcacaggGctcaagctgttcctcccctc	4	12	10	15	0	2	0	1	0	1	0	5	0	4	0	4	2	2	4	4	2	1	2			TCGA-KK-A8IG-01A-11D-A364-08	TCGA-KK-A8IG-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082edbc7-1c72-4487-8603-5f20dd332ac3	ab1b5fbe-db21-4790-94c3-f56579040952	g.chr1:201356120G>A	ENST00000391967.2	-	3	670	c.369C>T	c.(367-369)agC>agT	p.S123S	LAD1_ENST00000367313.3_Silent_p.S137S	NM_005558.3	NP_005549.2	O00515	LAD1_HUMAN	ladinin 1	123						basement membrane (GO:0005604)	structural molecule activity (GO:0005198)			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(6)|prostate(2)|skin(2)	19						CCTGCACAGGGCTCAAGCTGT	0.662																																						ENST00000391967.2																			0				breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(6)|prostate(2)|skin(2)	19						c.(367-369)agC>agT		ladinin 1							36	39	38					1																	201356120		2203	4300	6503	SO:0001819	synonymous_variant	3898					basement membrane	structural molecule activity	g.chr1:201356120G>A	U42408	CCDS1410.1	1q25.1-q32.3	2008-02-05			ENSG00000159166	ENSG00000159166			6472	protein-coding gene	gene with protein product		602314				8618013, 9119369	Standard	NM_005558		Approved		uc001gwm.3	O00515	OTTHUMG00000035737	ENST00000391967.2:c.369C>T	1.37:g.201356120G>A						LAD1_ENST00000367313.3_Silent_p.S137S	p.S123S	NM_005558.3	NP_005549.2	O00515	LAD1_HUMAN			3	670	-			123					O95614|Q96GD8	Silent	SNP	ENST00000391967.2	37	c.369C>T	CCDS1410.1																																																																																				0.662	LAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086946.1	NM_005558		3	45	0	0	0	1	0	3	45					A	201356120	G	A	201356120	2	1	343	1	0	0	0	0	0	0	0	1	8599	1194	42	3		3	LAD1	1	201356120	Silent	SNP	G	TCGA-KK-A8IG-01A-11D-A364-08	86917735	201356120	47894501	3	17345											
C2orf79	391356	broad.mit.edu	37	chr2	25013322	25013322	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttcaaatactggcccacttcTtccttggggtagggccggag	7	11	12	11	1	2	0	1	0	1	0	3	1	3	1	3	5	1	1	3	5	3	6			TCGA-KK-A8IG-01A-11D-A364-08	TCGA-KK-A8IG-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082edbc7-1c72-4487-8603-5f20dd332ac3	ab1b5fbe-db21-4790-94c3-f56579040952	g.chr2:25013322T>G	ENST00000328379.5	-	2	385	c.381A>C	c.(379-381)gaA>gaC	p.E127D	CENPO_ENST00000380834.2_5'Flank|CENPO_ENST00000473706.1_5'Flank|PTRHD1_ENST00000487316.1_5'UTR	NM_001013663.1	NP_001013685.1	Q6GMV3	PTRD1_HUMAN	peptidyl-tRNA hydrolase domain containing 1	127						extracellular vesicular exosome (GO:0070062)	aminoacyl-tRNA hydrolase activity (GO:0004045)			autonomic_ganglia(1)|central_nervous_system(1)|large_intestine(2)|lung(1)|skin(1)	6						GGCCCACTTCTTCCTTGGGGT	0.493																																						ENST00000328379.4																			0				autonomic_ganglia(1)|central_nervous_system(1)|large_intestine(2)|lung(1)|skin(1)	6						c.(379-381)gaA>gaC		peptidyl-tRNA hydrolase domain containing 1							134	121	126					2																	25013322		2203	4300	6503	SO:0001583	missense	391356				translation		aminoacyl-tRNA hydrolase activity|protein tyrosine phosphatase activity	g.chr2:25013322T>G		CCDS33156.1	2p23.3	2011-05-09	2011-05-09	2011-05-09	ENSG00000184924	ENSG00000184924			33782	protein-coding gene	gene with protein product			"chromosome 2 open reading frame 79"	C2orf79		12477932	Standard	NM_001013663		Approved	LOC391356	uc002rfm.3	Q6GMV3	OTTHUMG00000151978	ENST00000328379.5:c.381A>C	2.37:g.25013322T>G	ENSP00000330389:p.Glu127Asp					PTRHD1_ENST00000487316.1_5'UTR	p.E127D	NM_001013663.1	NP_001013685.1	Q6GMV3	PTRD1_HUMAN			2	385	-			127						Missense_Mutation	SNP	ENST00000328379.5	37	c.381A>C	CCDS33156.1	.	.	.	.	.	.	.	.	.	.	T	12.25	1.881131	0.33255	.	.	ENSG00000184924	ENST00000328379	T	0.11169	2.8	5.08	-1.0	0.10196	Peptidyl-tRNA hydrolase II domain (2);	0.166428	0.52532	D	0.000079	T	0.10766	0.0263	L	0.27053	0.805	0.43246	D	0.995165	D	0.55385	0.971	P	0.54401	0.751	T	0.15925	-1.0420	10	0.15499	T	0.54	-13.2794	10.7946	0.46453	0.0:0.6527:0.0:0.3473	.	127	Q6GMV3	PTRD1_HUMAN	D	127	ENSP00000330389:E127D	ENSP00000330389:E127D	E	-	3	2	PTRHD1	24866826	1.000000	0.71417	0.998000	0.56505	0.995000	0.86356	0.682000	0.25335	-0.052000	0.13311	0.533000	0.62120	GAA		0.493	PTRHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324626.3	NM_001013663		23	43	0	0	0	1	0	23	43					G	25013322	T	G	25013322	3	3	343	1	0	0	0	0	1	0	0	0	2196	1606	56	5	45	5	C2orf79	2	25013322	Missense_Mutation	SNP	T	TCGA-KK-A8IG-01A-11D-A364-08		25013322	218186051	4	17346											
SLC4A1AP	22950	broad.mit.edu	37	chr2	27907927	27907927	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttaccccccaagcgtccagaActccctccaactctaatgag	11	8	5	17	1	1	2	0	1	1	1	4	2	4	2	6	0	4	0	6	0	5	2			TCGA-KK-A8IG-01A-11D-A364-08	TCGA-KK-A8IG-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082edbc7-1c72-4487-8603-5f20dd332ac3	ab1b5fbe-db21-4790-94c3-f56579040952	g.chr2:27907927A>G	ENST00000326019.6	+	10	2181	c.1899A>G	c.(1897-1899)gaA>gaG	p.E633E		NM_018158.2	NP_060628.2	Q9BWU0	NADAP_HUMAN	solute carrier family 4 (anion exchanger), member 1, adaptor protein	633						cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|upper_aerodigestive_tract(1)	23	Acute lymphoblastic leukemia(172;0.155)					AGCGTCCAGAACTCCCTCCAA	0.418																																						ENST00000326019.6																			0				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|upper_aerodigestive_tract(1)	23						c.(1897-1899)gaA>gaG		solute carrier family 4 (anion exchanger), member 1, adaptor protein							78	76	77					2																	27907927		2203	4300	6503	SO:0001819	synonymous_variant	22950					cytoplasm|nucleus	double-stranded RNA binding|protein binding	g.chr2:27907927A>G		CCDS33166.1	2p23.3	2010-03-11	2001-11-28		ENSG00000163798	ENSG00000163798			13813	protein-coding gene	gene with protein product	"lung cancer oncogene 3"	602655	"solute carrier family 4 (anion exchanger), member 1, adapter protein"			9422766	Standard	NM_018158		Approved	kanadaptin, HLC3	uc002rlk.4	Q9BWU0	OTTHUMG00000151944	ENST00000326019.6:c.1899A>G	2.37:g.27907927A>G							p.E633E	NM_018158.2	NP_060628.2	Q9BWU0	NADAP_HUMAN			10	2181	+	Acute lymphoblastic leukemia(172;0.155)		633					A6NJ39|Q4KMT1|Q4KMX0|Q7Z5Q9|Q9NVN2	Silent	SNP	ENST00000326019.6	37	c.1899A>G	CCDS33166.1																																																																																				0.418	SLC4A1AP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324550.1	NM_018158		4	72	0	0	0	1	0	4	72					G	27907927	A	G	27907927	2	3	343	1	0	0	0	0	0	0	0	1	14653	40	2	4		4	SLC4A1AP	2	27907927	Silent	SNP	A	TCGA-KK-A8IG-01A-11D-A364-08	2894605	27907927	215291446	5	17347											
SLC25A38	54977	broad.mit.edu	37	chr3	39436020	39436020	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	aaactcatatgcagctttatCcactgaagtttcaatggatt	13	14	6	8	0	2	1	2	1	0	0	3	2	3	2	1	1	3	3	1	1	5	5			TCGA-KK-A8IG-01A-11D-A364-08	TCGA-KK-A8IG-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082edbc7-1c72-4487-8603-5f20dd332ac3	ab1b5fbe-db21-4790-94c3-f56579040952	g.chr3:39436020C>T	ENST00000273158.4	+	6	1122	c.745C>T	c.(745-747)Cca>Tca	p.P249S		NM_017875.2	NP_060345.2			solute carrier family 25, member 38											breast(1)|endometrium(1)|large_intestine(1)|lung(6)|skin(1)|stomach(1)	11				KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)		GCAGCTTTATCCACTGAAGTT	0.378																																						ENST00000273158.4																			0				breast(1)|endometrium(1)|large_intestine(1)|lung(6)|skin(1)|stomach(1)	11						c.(745-747)Cca>Tca		solute carrier family 25, member 38							112	110	110					3																	39436020		2203	4300	6503	SO:0001583	missense	54977				erythrocyte differentiation|heme biosynthetic process|transport	integral to membrane|mitochondrial inner membrane		g.chr3:39436020C>T	BC013194	CCDS2685.1	3p22.1	2013-05-22			ENSG00000144659	ENSG00000144659		"Solute carriers"	26054	protein-coding gene	gene with protein product		610819				16949250	Standard	NM_017875		Approved	FLJ20551	uc003cjo.2	Q96DW6	OTTHUMG00000131289	ENST00000273158.4:c.745C>T	3.37:g.39436020C>T	ENSP00000273158:p.Pro249Ser						p.P249S	NM_017875.2	NP_060345.2	Q96DW6	S2538_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)	6	1122	+			249						Missense_Mutation	SNP	ENST00000273158.4	37	c.745C>T	CCDS2685.1	.	.	.	.	.	.	.	.	.	.	c	14.67	2.604415	0.46423	.	.	ENSG00000144659	ENST00000273158	T	0.78246	-1.16	5.62	3.71	0.42584	Mitochondrial carrier domain (2);	0.284601	0.37809	N	0.001933	T	0.69006	0.3063	L	0.38175	1.15	0.47737	D	0.999505	B	0.18863	0.031	B	0.27715	0.082	T	0.64076	-0.6492	10	0.30854	T	0.27	-8.4359	12.5029	0.55966	0.3007:0.6993:0.0:0.0	.	249	Q96DW6	S2538_HUMAN	S	249	ENSP00000273158:P249S	ENSP00000273158:P249S	P	+	1	0	SLC25A38	39411024	0.000000	0.05858	0.132000	0.22025	0.847000	0.48162	0.143000	0.16115	1.340000	0.45581	0.655000	0.94253	CCA		0.378	SLC25A38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254057.3	NM_017875		38	79	0	0	0	1	0	38	79					T	39436020	C	T	39436020	3	4	343	1	0	0	0	0	1	0	0	0	14502	855	30	3	767	3	SLC25A38	3	39436020	Missense_Mutation	SNP	C	TCGA-KK-A8IG-01A-11D-A364-08		39436020	158586410	6	17348											
DIRC2	84925	broad.mit.edu	37	chr3	122545901	122545901	+	Missense_Mutation	SNP	T	T	C																															taaagatcgcatagaggctgTgttatatgcaggtaatttga																								rs192045321		TCGA-KK-A8IG-01A-11D-A364-08	TCGA-KK-A8IG-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082edbc7-1c72-4487-8603-5f20dd332ac3	ab1b5fbe-db21-4790-94c3-f56579040952	g.chr3:122545901T>C	ENST00000261038.5	+	3	1090	c.692T>C	c.(691-693)gTg>gCg	p.V231A		NM_032839.2	NP_116228.1	Q96SL1	DIRC2_HUMAN	disrupted in renal carcinoma 2	231					transport (GO:0006810)	integral component of membrane (GO:0016021)|lysosome (GO:0005764)				endometrium(2)|large_intestine(1)|lung(14)|prostate(1)	18				GBM - Glioblastoma multiforme(114;0.0614)		ATAGAGGCTGTGTTATATGCA	0.378																																						ENST00000261038.5																			0				endometrium(2)|large_intestine(1)|lung(14)|prostate(1)	18						c.(691-693)gTg>gCg		disrupted in renal carcinoma 2							101	92	95					3																	122545901		2203	4300	6503	SO:0001583	missense	84925				transport	integral to membrane		g.chr3:122545901T>C	AK027690	CCDS3018.1	3q21.1	2013-05-22			ENSG00000138463	ENSG00000138463		"Solute carriers"	16628	protein-coding gene	gene with protein product	"renal cell carcinoma 4", "disrupted in renal cancer protein 2"	602773				11912179	Standard	NM_032839		Approved	FLJ14784, RCC4	uc003efw.4	Q96SL1	OTTHUMG00000159553	ENST00000261038.5:c.692T>C	3.37:g.122545901T>C	ENSP00000261038:p.Val231Ala						p.V231A	NM_032839.2	NP_116228.1	Q96SL1	DIRC2_HUMAN		GBM - Glioblastoma multiforme(114;0.0614)	3	1090	+			231					A8K561|Q8NBX9	Missense_Mutation	SNP	ENST00000261038.5	37	c.692T>C	CCDS3018.1	.	.	.	.	.	.	.	.	.	.	T	23.6	4.438901	0.83885	.	.	ENSG00000138463	ENST00000261038	T	0.58358	0.34	5.89	5.89	0.94794	Major facilitator superfamily domain, general substrate transporter (1);	0.050797	0.85682	D	0.000000	T	0.59865	0.2225	L	0.57536	1.79	0.80722	D	1	P	0.52170	0.951	P	0.50109	0.631	T	0.62201	-0.6904	10	0.52906	T	0.07	.	15.5446	0.76086	0.0:0.0:0.0:1.0	.	231	Q96SL1	DIRC2_HUMAN	A	231	ENSP00000261038:V231A	ENSP00000261038:V231A	V	+	2	0	DIRC2	124028591	1.000000	0.71417	0.998000	0.56505	0.993000	0.82548	7.134000	0.77268	2.267000	0.75376	0.529000	0.55759	GTG		0.378	DIRC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356180.2	NM_032839		28	82	0	0	0	1	0	28	82					C	122545901	T	C	122545901	3	2	343	1	0	0	0	0	1	0	0	0	4534	1696	59	4	702	4	DIRC2	3	122545901	Missense_Mutation	SNP	T	TCGA-KK-A8IG-01A-11D-A364-08	83109881	122545901	75476529	7	17349	88	2									
DIRC2	84925	broad.mit.edu	37	chr3	122545904	122545904	+	Missense_Mutation	SNP	T	T	C																															agatcgcatagaggctgtgtTatatgcaggtaatttgaagt																										TCGA-KK-A8IG-01A-11D-A364-08	TCGA-KK-A8IG-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082edbc7-1c72-4487-8603-5f20dd332ac3	ab1b5fbe-db21-4790-94c3-f56579040952	g.chr3:122545904T>C	ENST00000261038.5	+	3	1093	c.695T>C	c.(694-696)tTa>tCa	p.L232S		NM_032839.2	NP_116228.1	Q96SL1	DIRC2_HUMAN	disrupted in renal carcinoma 2	232					transport (GO:0006810)	integral component of membrane (GO:0016021)|lysosome (GO:0005764)				endometrium(2)|large_intestine(1)|lung(14)|prostate(1)	18				GBM - Glioblastoma multiforme(114;0.0614)		GAGGCTGTGTTATATGCAGGT	0.383																																						ENST00000261038.5																			0				endometrium(2)|large_intestine(1)|lung(14)|prostate(1)	18						c.(694-696)tTa>tCa		disrupted in renal carcinoma 2							97	89	92					3																	122545904		2203	4300	6503	SO:0001583	missense	84925				transport	integral to membrane		g.chr3:122545904T>C	AK027690	CCDS3018.1	3q21.1	2013-05-22			ENSG00000138463	ENSG00000138463		"Solute carriers"	16628	protein-coding gene	gene with protein product	"renal cell carcinoma 4", "disrupted in renal cancer protein 2"	602773				11912179	Standard	NM_032839		Approved	FLJ14784, RCC4	uc003efw.4	Q96SL1	OTTHUMG00000159553	ENST00000261038.5:c.695T>C	3.37:g.122545904T>C	ENSP00000261038:p.Leu232Ser						p.L232S	NM_032839.2	NP_116228.1	Q96SL1	DIRC2_HUMAN		GBM - Glioblastoma multiforme(114;0.0614)	3	1093	+			232					A8K561|Q8NBX9	Missense_Mutation	SNP	ENST00000261038.5	37	c.695T>C	CCDS3018.1	.	.	.	.	.	.	.	.	.	.	T	25.3	4.627935	0.87560	.	.	ENSG00000138463	ENST00000261038	T	0.60920	0.15	5.89	5.89	0.94794	Major facilitator superfamily domain, general substrate transporter (1);	0.255560	0.37906	N	0.001898	T	0.67822	0.2934	L	0.54323	1.7	0.44345	D	0.997239	D	0.60160	0.987	P	0.56916	0.809	T	0.70761	-0.4784	10	0.72032	D	0.01	.	15.5446	0.76086	0.0:0.0:0.0:1.0	.	232	Q96SL1	DIRC2_HUMAN	S	232	ENSP00000261038:L232S	ENSP00000261038:L232S	L	+	2	0	DIRC2	124028594	0.940000	0.31905	0.982000	0.44146	0.995000	0.86356	7.134000	0.77268	2.267000	0.75376	0.529000	0.55759	TTA		0.383	DIRC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356180.2	NM_032839		27	79	0	0	0	1	0	27	79					C	122545904	T	C	122545904	3	2	343	1	0	0	0	0	1	0	0	0	4534	1764	61	4	705	4	DIRC2	3	122545904	Missense_Mutation	SNP	T	TCGA-KK-A8IG-01A-11D-A364-08	3	122545904	75476526	8	17350	88	2									
LRRC66	339977	broad.mit.edu	37	chr4	52860765	52860765	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctaagggactattccctggtGacctgggccagggtgacagg	8	8	15	10	0	0	2	0	2	0	0	1	3	1	3	3	5	0	0	3	5	2	3			TCGA-KK-A8IG-01A-11D-A364-08	TCGA-KK-A8IG-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082edbc7-1c72-4487-8603-5f20dd332ac3	ab1b5fbe-db21-4790-94c3-f56579040952	g.chr4:52860765G>C	ENST00000343457.3	-	4	2429	c.2423C>G	c.(2422-2424)tCa>tGa	p.S808*		NM_001024611.1	NP_001019782.1	Q68CR7	LRC66_HUMAN	leucine rich repeat containing 66	808						integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(8)|lung(34)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	58						ATTCCCTGGTGACCTGGGCCA	0.493																																						ENST00000343457.3																			0				central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(8)|lung(34)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	58						c.(2422-2424)tCa>tGa		leucine rich repeat containing 66							53	55	54					4																	52860765		1883	4108	5991	SO:0001587	stop_gained	339977					integral to membrane		g.chr4:52860765G>C	BC040414	CCDS43229.1	4q12	2008-08-08			ENSG00000188993	ENSG00000188993			34299	protein-coding gene	gene with protein product							Standard	XM_005265739		Approved		uc003gzi.3	Q68CR7	OTTHUMG00000160623	ENST00000343457.3:c.2423C>G	4.37:g.52860765G>C	ENSP00000341944:p.Ser808*						p.S808*	NM_001024611.1	NP_001019782.1	Q68CR7	LRC66_HUMAN			4	2429	-			808						Nonsense_Mutation	SNP	ENST00000343457.3	37	c.2423C>G	CCDS43229.1	.	.	.	.	.	.	.	.	.	.	G	19.66	3.868551	0.72065	.	.	ENSG00000188993	ENST00000343457	.	.	.	4.67	2.87	0.33458	.	0.367288	0.20166	N	0.097849	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-2.5128	6.1752	0.20439	0.0968:0.0:0.7206:0.1826	.	.	.	.	X	808	.	ENSP00000341944:S808X	S	-	2	0	LRRC66	52555522	0.001000	0.12720	0.002000	0.10522	0.004000	0.04260	0.581000	0.23819	0.635000	0.30488	0.655000	0.94253	TCA		0.493	LRRC66-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361473.1	NM_001024611		3	23	0	0	0	1	0	3	23					C	52860765	G	C	52860765	4	2	343	1	0	0	0	0	0	1	0	0	9018	1294	45	5	223	5	LRRC66	4	52860765	Nonsense_Mutation	SNP	G	TCGA-KK-A8IG-01A-11D-A364-08		52860765	138293511	9	17351											
METTL14	57721	broad.mit.edu	37	chr4	119609163	119609163	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgctgaaacaagagaaacttGcaggtcagtcagataattct	15	10	9	7	0	3	3	2	1	1	2	3	4	3	3	0	1	4	2	0	1	4	3			TCGA-KK-A8IG-01A-11D-A364-08	TCGA-KK-A8IG-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082edbc7-1c72-4487-8603-5f20dd332ac3	ab1b5fbe-db21-4790-94c3-f56579040952	g.chr4:119609163G>T	ENST00000388822.5	+	2	319	c.152G>T	c.(151-153)tGc>tTc	p.C51F	METTL14_ENST00000506780.1_Missense_Mutation_p.A13S			Q9HCE5	MET14_HUMAN	methyltransferase like 14	51					mRNA destabilization (GO:0061157)|mRNA methylation (GO:0080009)|stem cell maintenance (GO:0019827)	MIS complex (GO:0036396)|nucleus (GO:0005634)	mRNA (2'-O-methyladenosine-N6-)-methyltransferase activity (GO:0016422)|RNA binding (GO:0003723)			endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|stomach(1)	16						AGAGAAACTTGCAGGTCAGTC	0.408																																						ENST00000388822.4																			0				endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|stomach(1)	16						c.(151-153)tGc>tTc		methyltransferase like 14							75	73	74					4																	119609163		2203	4300	6503	SO:0001583	missense	57721					nucleus	mRNA (2'-O-methyladenosine-N6-)-methyltransferase activity	g.chr4:119609163G>T	AB046847	CCDS34053.1	4q26	2009-02-24			ENSG00000145388	ENSG00000145388			29330	protein-coding gene	gene with protein product						10997877	Standard	NM_020961		Approved	KIAA1627	uc003icf.3	Q9HCE5	OTTHUMG00000161167	ENST00000388822.5:c.152G>T	4.37:g.119609163G>T	ENSP00000373474:p.Cys51Phe					METTL14_ENST00000506780.1_Missense_Mutation_p.A13S	p.C51F			Q9HCE5	MTL14_HUMAN			2	319	+			51					A6NIG1|Q969V2	Missense_Mutation	SNP	ENST00000388822.5	37	c.152G>T	CCDS34053.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	13.59|13.59	2.281422|2.281422	0.40394|0.40394	.|.	.|.	ENSG00000145388|ENSG00000145388	ENST00000506780|ENST00000388822;ENST00000508801	.|.	.|.	.|.	5.5|5.5	5.5|5.5	0.81552|0.81552	.|.	.|0.089338	.|0.85682	.|N	.|0.000000	T|T	0.29028|0.29028	0.0721|0.0721	N|N	0.22421|0.22421	0.69|0.69	0.26312|0.26312	N|N	0.97781|0.97781	B|B	0.23058|0.26258	0.079|0.145	B|B	0.16289|0.25140	0.015|0.058	T|T	0.09378|0.09378	-1.0677|-1.0677	8|9	0.46703|0.10111	T|T	0.11|0.7	-11.3476|-11.3476	16.0714|16.0714	0.80940|0.80940	0.0:0.1339:0.8661:0.0|0.0:0.1339:0.8661:0.0	.|.	13|51	D6RBL4|Q9HCE5	.|MTL14_HUMAN	S|F	13|51;101	.|.	ENSP00000424111:A13S|ENSP00000373474:C51F	A|C	+|+	1|2	0|0	METTL14|METTL14	119828611|119828611	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.984000|0.984000	0.73092|0.73092	4.785000|4.785000	0.62418|0.62418	2.762000|2.762000	0.94881|0.94881	0.643000|0.643000	0.83706|0.83706	GCA|TGC		0.408	METTL14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364034.3	NM_020961		10	12	1	0	0.000442599	1	0.000458694	10	12					T	119609163	G	T	119609163	3	4	343	1	0	0	0	0	1	0	0	0	9498	1319	46	5	158	5	METTL14	4	119609163	Missense_Mutation	SNP	G	TCGA-KK-A8IG-01A-11D-A364-08	66748398	119609163	71545113	10	17352											
PHF17	79960	broad.mit.edu	37	chr4	129782991	129782991	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gcccaaagcacagctcacatAggaaacccgaggagagtctt	14	5	10	12	1	2	1	1	0	1	1	2	4	2	2	2	2	3	2	2	2	3	2			TCGA-KK-A8IG-01A-11D-A364-08	TCGA-KK-A8IG-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082edbc7-1c72-4487-8603-5f20dd332ac3	ab1b5fbe-db21-4790-94c3-f56579040952	g.chr4:129782991A>T	ENST00000226319.6	+	9	1394	c.1114A>T	c.(1114-1116)Agg>Tgg	p.R372W	PHF17_ENST00000512960.1_Missense_Mutation_p.R372W|PHF17_ENST00000413543.2_Missense_Mutation_p.R372W|PHF17_ENST00000452328.2_Missense_Mutation_p.R360W|PHF17_ENST00000511647.1_Missense_Mutation_p.R372W	NM_199320.2	NP_955352.1														NS(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29						CAGCTCACATAGGAAACCCGA	0.557																																						ENST00000226319.6																			0				NS(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29						c.(1114-1116)Agg>Tgg									105	119	114					4																	129782991		2203	4300	6503	SO:0001583	missense	0				apoptosis|histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation|negative regulation of cell growth|regulation of transcription, DNA-dependent|response to stress|transcription, DNA-dependent	histone acetyltransferase complex|mitochondrion	protein binding|zinc ion binding	g.chr4:129782991A>T																												ENST00000226319.6:c.1114A>T	4.37:g.129782991A>T	ENSP00000226319:p.Arg372Trp					PHF17_ENST00000512960.1_Missense_Mutation_p.R372W|PHF17_ENST00000413543.2_Missense_Mutation_p.R372W|PHF17_ENST00000452328.2_Missense_Mutation_p.R360W|PHF17_ENST00000511647.1_Missense_Mutation_p.R372W	p.R372W	NM_199320.2	NP_955352.1	Q6IE81	JADE1_HUMAN			9	1394	+			372						Missense_Mutation	SNP	ENST00000226319.6	37	c.1114A>T	CCDS34062.1	.	.	.	.	.	.	.	.	.	.	A	8.087	0.773597	0.16051	.	.	ENSG00000077684	ENST00000226319;ENST00000511647;ENST00000452328;ENST00000512960;ENST00000535321;ENST00000413543	T;T;T;T;T	0.47869	0.99;0.83;0.99;0.99;0.83	5.01	-7.41	0.01392	.	0.366656	0.28803	N	0.014097	T	0.17662	0.0424	N	0.08118	0	0.09310	N	1	B;B;B	0.13145	0.007;0.0;0.001	B;B;B	0.21360	0.034;0.001;0.012	T	0.18429	-1.0337	9	.	.	.	.	7.5221	0.27635	0.2861:0.5507:0.0616:0.1016	.	360;372;372	Q6IE81-2;Q6IE81;Q6IE81-3	.;JADE1_HUMAN;.	W	372;372;360;372;372;372	ENSP00000226319:R372W;ENSP00000423737:R372W;ENSP00000388015:R360W;ENSP00000425730:R372W;ENSP00000404211:R372W	.	R	+	1	2	PHF17	130002441	0.219000	0.23619	0.000000	0.03702	0.128000	0.20619	0.715000	0.25822	-1.480000	0.01865	-1.410000	0.01125	AGG		0.557	PHF17-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364280.1			8	135	0	0	0	1	0	8	135					T	129782991	A	T	129782991	3	4	343	1	0	0	0	0	1	0	0	0	11828	411	15	5	1144	5	PHF17	4	129782991	Missense_Mutation	SNP	A	TCGA-KK-A8IG-01A-11D-A364-08	10173828	129782991	61371285	11	17353											
PCDH18	54510	broad.mit.edu	37	chr4	138452054	138452054	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accatgtccatgaagcttacAaactatttctccattcagcc	12	12	4	13	0	2	1	1	1	1	0	4	1	3	1	4	0	4	1	4	0	4	4			TCGA-KK-A8IG-01A-11D-A364-08	TCGA-KK-A8IG-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082edbc7-1c72-4487-8603-5f20dd332ac3	ab1b5fbe-db21-4790-94c3-f56579040952	g.chr4:138452054A>C	ENST00000344876.4	-	1	1575	c.1189T>G	c.(1189-1191)Tgt>Ggt	p.C397G	PCDH18_ENST00000412923.2_Missense_Mutation_p.C397G|PCDH18_ENST00000511115.1_Intron|PCDH18_ENST00000507846.1_Missense_Mutation_p.C177G|PCDH18_ENST00000510305.1_Intron	NM_019035.3	NP_061908.1	Q9HCL0	PCD18_HUMAN	protocadherin 18	397	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				brain development (GO:0007420)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					TGAAGCTTACAAACTATTTCT	0.343																																						ENST00000344876.4																			0				NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86						c.(1189-1191)Tgt>Ggt		protocadherin 18							93	99	97					4																	138452054		2203	4300	6503	SO:0001583	missense	54510				brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:138452054A>C	AL137471	CCDS34064.1, CCDS75193.1	4q28.3	2010-01-26			ENSG00000189184	ENSG00000189184		"Cadherins / Protocadherins : Non-clustered"	14268	protein-coding gene	gene with protein product		608287				10835267, 11549318	Standard	XM_005263070		Approved	KIAA1562, PCDH68L	uc003ihe.4	Q9HCL0	OTTHUMG00000161348	ENST00000344876.4:c.1189T>G	4.37:g.138452054A>C	ENSP00000355082:p.Cys397Gly					PCDH18_ENST00000412923.2_Missense_Mutation_p.C397G|PCDH18_ENST00000511115.1_Intron|PCDH18_ENST00000510305.1_Intron|PCDH18_ENST00000507846.1_Missense_Mutation_p.C177G	p.C397G	NM_019035.3	NP_061908.1	Q9HCL0	PCD18_HUMAN			1	1575	-	all_hematologic(180;0.24)		397			Cadherin 4.		A8K7K3|B7ZKT1|Q52LS2	Missense_Mutation	SNP	ENST00000344876.4	37	c.1189T>G	CCDS34064.1	.	.	.	.	.	.	.	.	.	.	A	16.39	3.110773	0.56398	.	.	ENSG00000189184	ENST00000344876;ENST00000412923;ENST00000507846	T;T;T	0.50813	0.73;0.73;0.73	6.03	6.03	0.97812	Cadherin (4);Cadherin-like (1);	0.000000	0.47455	D	0.000236	T	0.75796	0.3898	H	0.95079	3.62	0.80722	D	1	D;D;D	0.63880	0.98;0.993;0.987	D;P;P	0.66497	0.944;0.908;0.859	T	0.82870	-0.0243	10	0.87932	D	0	.	12.4227	0.55529	0.8601:0.1398:0.0:0.0	.	177;397;397	D6RIG4;Q9HCL0-2;Q9HCL0	.;.;PCD18_HUMAN	G	397;397;177	ENSP00000355082:C397G;ENSP00000390688:C397G;ENSP00000425903:C177G	ENSP00000355082:C397G	C	-	1	0	PCDH18	138671504	1.000000	0.71417	0.956000	0.39512	0.998000	0.95712	7.263000	0.78421	2.313000	0.78055	0.455000	0.32223	TGT		0.343	PCDH18-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364614.1	NM_019035		3	70	0	0	0	1	0	3	70					C	138452054	A	C	138452054	3	2	343	1	0	0	0	0	1	0	0	0	11513	130	5	5	2234	5	PCDH18	4	138452054	Missense_Mutation	SNP	A	TCGA-KK-A8IG-01A-11D-A364-08	8669063	138452054	52702222	12	17354											
CD180	4064	broad.mit.edu	37	chr5	66479763	66479763	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtgagttgctgtcagatccAattcttggagttgggtgaag	9	13	14	5	0	2	3	1	2	1	1	3	4	3	4	1	2	1	3	1	2	2	4			TCGA-KK-A8IG-01A-11D-A364-08	TCGA-KK-A8IG-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082edbc7-1c72-4487-8603-5f20dd332ac3	ab1b5fbe-db21-4790-94c3-f56579040952	g.chr5:66479763A>G	ENST00000256447.4	-	3	1065	c.908T>C	c.(907-909)tTg>tCg	p.L303S		NM_005582.2	NP_005573.2	Q99467	CD180_HUMAN	CD180 molecule	303					B cell proliferation involved in immune response (GO:0002322)|cellular response to lipopolysaccharide (GO:0071222)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of lipopolysaccharide-mediated signaling pathway (GO:0031666)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				cervix(1)|endometrium(2)|kidney(7)|large_intestine(12)|liver(1)|lung(8)|ovary(1)|stomach(2)	34		Lung NSC(167;4.94e-05)|Prostate(74;0.00601)|Ovarian(174;0.0654)|Breast(144;0.198)|Colorectal(97;0.234)		Lung(70;0.0046)		TGTCAGATCCAATTCTTGGAG	0.453																																						ENST00000256447.4																			0				cervix(1)|endometrium(2)|kidney(7)|large_intestine(12)|liver(1)|lung(8)|ovary(1)|stomach(2)	34						c.(907-909)tTg>tCg		CD180 molecule							109	105	106					5																	66479763		2203	4300	6503	SO:0001583	missense	4064				inflammatory response|innate immune response	integral to membrane|plasma membrane	receptor activity	g.chr5:66479763A>G	D83597	CCDS3992.1	5q12	2008-02-05	2006-03-28	2005-06-07	ENSG00000134061	ENSG00000134061		"CD molecules"	6726	protein-coding gene	gene with protein product		602226	"lymphocyte antigen 64 (mouse) homolog, radioprotective, 105kD", "CD180 antigen"	LY64		9763566, 8975706	Standard	NM_005582		Approved	RP105, Ly78	uc003juy.2	Q99467	OTTHUMG00000131229	ENST00000256447.4:c.908T>C	5.37:g.66479763A>G	ENSP00000256447:p.Leu303Ser						p.L303S	NM_005582.2	NP_005573.2	Q99467	CD180_HUMAN		Lung(70;0.0046)	3	1065	-		Lung NSC(167;4.94e-05)|Prostate(74;0.00601)|Ovarian(174;0.0654)|Breast(144;0.198)|Colorectal(97;0.234)	303					B2R7Z7|Q32MM5	Missense_Mutation	SNP	ENST00000256447.4	37	c.908T>C	CCDS3992.1	.	.	.	.	.	.	.	.	.	.	A	16.94	3.260066	0.59321	.	.	ENSG00000134061	ENST00000256447	D	0.93076	-3.16	5.22	5.22	0.72569	.	0.000000	0.53938	D	0.000057	D	0.96833	0.8966	M	0.84511	2.7	0.54753	D	0.999984	D	0.89917	1.0	D	0.97110	1.0	D	0.97533	1.0081	10	0.87932	D	0	.	15.2692	0.73686	1.0:0.0:0.0:0.0	.	303	Q99467	CD180_HUMAN	S	303	ENSP00000256447:L303S	ENSP00000256447:L303S	L	-	2	0	CD180	66515519	1.000000	0.71417	0.933000	0.37362	0.618000	0.37518	6.282000	0.72639	2.197000	0.70478	0.528000	0.53228	TTG		0.453	CD180-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253973.2	NM_005582		25	55	0	0	0	1	0	25	55					G	66479763	A	G	66479763	3	3	343	1	0	0	0	0	1	0	0	0	2972	131	5	4	1081	4	CD180	5	66479763	Missense_Mutation	SNP	A	TCGA-KK-A8IG-01A-11D-A364-08		66479763	114435497	13	17355											
DOPEY1	23033	broad.mit.edu	37	chr6	83850061	83850061	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actgcatcaagctgattcttCagaaaagatgactattgccg	13	11	8	9	1	3	4	2	2	1	2	3	4	3	4	1	0	3	2	1	0	4	4			TCGA-KK-A8IG-01A-11D-A364-08	TCGA-KK-A8IG-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082edbc7-1c72-4487-8603-5f20dd332ac3	ab1b5fbe-db21-4790-94c3-f56579040952	g.chr6:83850061C>A	ENST00000349129.2	+	23	5614	c.5354C>A	c.(5353-5355)tCa>tAa	p.S1785*	DOPEY1_ENST00000237163.5_Nonsense_Mutation_p.S1766*|DOPEY1_ENST00000484282.1_3'UTR|DOPEY1_ENST00000369739.3_Nonsense_Mutation_p.S1776*	NM_015018.3	NP_055833.2	Q5JWR5	DOP1_HUMAN	dopey family member 1	1785					protein transport (GO:0015031)					breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	67		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)		BRCA - Breast invasive adenocarcinoma(397;0.053)		GCTGATTCTTCAGAAAAGATG	0.408																																						ENST00000349129.2																			0				breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	67						c.(5353-5355)tCa>tAa		dopey family member 1							166	154	158					6																	83850061		2203	4300	6503	SO:0001587	stop_gained	23033				protein transport			g.chr6:83850061C>A	AK027030	CCDS4996.1, CCDS64467.1	6q15	2013-03-05	2006-02-02	2006-02-02	ENSG00000083097	ENSG00000083097			21194	protein-coding gene	gene with protein product			"KIAA1117"	KIAA1117		16301316, 16303751, 10931277	Standard	NM_015018		Approved	dJ202D23.2	uc011dyy.2	Q5JWR5	OTTHUMG00000016365	ENST00000349129.2:c.5354C>A	6.37:g.83850061C>A	ENSP00000195654:p.Ser1785*					DOPEY1_ENST00000237163.5_Nonsense_Mutation_p.S1766*|DOPEY1_ENST00000484282.1_3'UTR|DOPEY1_ENST00000369739.3_Nonsense_Mutation_p.S1776*	p.S1785*	NM_015018.3	NP_055833.2	Q5JWR5	DOP1_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.053)	23	5614	+		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)	1785					Q86XV1|Q9H5J5|Q9NSL4|Q9UPN5|Q9Y414	Nonsense_Mutation	SNP	ENST00000349129.2	37	c.5354C>A	CCDS4996.1	.	.	.	.	.	.	.	.	.	.	C	46	12.215140	0.99647	.	.	ENSG00000083097	ENST00000349129;ENST00000237163;ENST00000369739	.	.	.	5.47	5.47	0.80525	.	0.065243	0.64402	D	0.000005	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.6797	0.95957	0.0:1.0:0.0:0.0	.	.	.	.	X	1785;1766;1766	.	ENSP00000237163:S1766X	S	+	2	0	DOPEY1	83906780	1.000000	0.71417	0.996000	0.52242	0.286000	0.27126	7.445000	0.80570	2.727000	0.93392	0.585000	0.79938	TCA		0.408	DOPEY1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043785.2	NM_015018		7	84	1	0	0.27861	1	0.283586	7	84					A	83850061	C	A	83850061	4	1	343	1	0	0	0	0	0	1	0	0	4707	838	29	5	5436	5	DOPEY1	6	83850061	Nonsense_Mutation	SNP	C	TCGA-KK-A8IG-01A-11D-A364-08		83850061	87265006	14	17356											
KBTBD2	25948	broad.mit.edu	37	chr7	32909378	32909378	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tgccagaggggagtcttatgCcggaattggtagcaatatgc	10	10	14	7	1	1	1	0	0	1	1	1	3	1	3	2	4	4	2	2	4	5	4			TCGA-KK-A8IG-01A-11D-A364-08	TCGA-KK-A8IG-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082edbc7-1c72-4487-8603-5f20dd332ac3	ab1b5fbe-db21-4790-94c3-f56579040952	g.chr7:32909378C>T	ENST00000304056.4	-	4	2150	c.1451G>A	c.(1450-1452)gGc>gAc	p.G484D	KBTBD2_ENST00000485611.1_5'Flank|AVL9_ENST00000404479.1_Intron	NM_015483.2	NP_056298.2	Q8IY47	KBTB2_HUMAN	kelch repeat and BTB (POZ) domain containing 2	484										endometrium(3)|kidney(3)|large_intestine(3)|lung(7)|urinary_tract(1)	17			GBM - Glioblastoma multiforme(11;0.0499)			GAGTCTTATGCCGGAATTGGT	0.428																																						ENST00000304056.4																			0				endometrium(3)|kidney(3)|large_intestine(3)|lung(7)|urinary_tract(1)	17						c.(1450-1452)gGc>gAc		kelch repeat and BTB (POZ) domain containing 2							94	95	95					7																	32909378		2203	4300	6503	SO:0001583	missense	25948							g.chr7:32909378C>T	AB040922	CCDS34614.1	7p14.3	2013-01-08	2003-12-12	2003-12-12	ENSG00000170852	ENSG00000170852		"BTB/POZ domain containing"	21751	protein-coding gene	gene with protein product			"BTB and kelch domain containing 1"	BKLHD1		10819331	Standard	NM_015483		Approved	DKFZP566C134	uc003tdb.2	Q8IY47	OTTHUMG00000152984	ENST00000304056.4:c.1451G>A	7.37:g.32909378C>T	ENSP00000302586:p.Gly484Asp					AVL9_ENST00000404479.1_Intron	p.G484D	NM_015483.2	NP_056298.2	Q8IY47	KBTB2_HUMAN	GBM - Glioblastoma multiforme(11;0.0499)		4	2150	-			484					A8K9T7|Q86Y62|Q9P239|Q9UFM7|Q9Y382	Missense_Mutation	SNP	ENST00000304056.4	37	c.1451G>A	CCDS34614.1	.	.	.	.	.	.	.	.	.	.	C	15.13	2.742814	0.49151	.	.	ENSG00000170852	ENST00000304056;ENST00000537125	T	0.68624	-0.34	5.73	5.73	0.89815	Kelch-type beta propeller (1);	0.045370	0.85682	N	0.000000	T	0.73171	0.3553	N	0.24115	0.695	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.71441	-0.4592	10	0.34782	T	0.22	.	19.8778	0.96885	0.0:1.0:0.0:0.0	.	484	Q8IY47	KBTB2_HUMAN	D	484;286	ENSP00000302586:G484D	ENSP00000302586:G484D	G	-	2	0	KBTBD2	32875903	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.818000	0.86416	2.709000	0.92574	0.491000	0.48974	GGC		0.428	KBTBD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328890.1	XM_291224		4	92	0	0	0	1	0	4	92					T	32909378	C	T	32909378	3	4	343	1	0	0	0	0	1	0	0	0	7993	739	26	3	424	3	KBTBD2	7	32909378	Missense_Mutation	SNP	C	TCGA-KK-A8IG-01A-11D-A364-08		32909378	126229285	15	17357											
C7orf42	55069	broad.mit.edu	37	chr7	66413640	66413640	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caggtggtattcacagcctgCatgaccctcacggccagccc	8	7	10	16	1	2	1	2	1	0	0	2	1	2	1	4	3	3	2	4	3	1	2			TCGA-KK-A8IG-01A-11D-A364-08	TCGA-KK-A8IG-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082edbc7-1c72-4487-8603-5f20dd332ac3	ab1b5fbe-db21-4790-94c3-f56579040952	g.chr7:66413640C>T	ENST00000341567.4	+	4	810	c.555C>T	c.(553-555)tgC>tgT	p.C185C		NM_017994.4	NP_060464.1	Q9NWD8	TM248_HUMAN	transmembrane protein 248	185						integral component of membrane (GO:0016021)											TCACAGCCTGCATGACCCTCA	0.592																																						ENST00000341567.4																			0											c.(553-555)tgC>tgT		transmembrane protein 248							84	57	66					7																	66413640		2203	4300	6503	SO:0001819	synonymous_variant	55069							g.chr7:66413640C>T		CCDS5536.1	7q11.21	2012-05-30	2012-05-30	2012-05-30	ENSG00000106609	ENSG00000106609			25476	protein-coding gene	gene with protein product			"chromosome 7 open reading frame 42"	C7orf42		12477932	Standard	XM_005250482		Approved	FLJ10099, FLJ13090	uc003tvk.3	Q9NWD8	OTTHUMG00000129553	ENST00000341567.4:c.555C>T	7.37:g.66413640C>T							p.C185C	NM_017994.4	NP_060464.1					4	810	+								Q53H07|Q96FR2	Silent	SNP	ENST00000341567.4	37	c.555C>T	CCDS5536.1																																																																																				0.592	TMEM248-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251745.2	NM_017994		3	36	0	0	0	1	0	3	36					T	66413640	C	T	66413640	2	4	343	1	0	0	0	0	0	0	0	1	2392	718	25	3		3	C7orf42	7	66413640	Silent	SNP	C	TCGA-KK-A8IG-01A-11D-A364-08	33504262	66413640	92725023	16	17358											
GPR37	2861	broad.mit.edu	37	chr7	124387012	124387012	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tacaggctttctctgctttgCggattttcctcgcagtcact	5	16	8	12	2	2	0	1	0	1	0	5	1	3	1	1	2	3	3	1	2	1	5	rs375795394		TCGA-KK-A8IG-01A-11D-A364-08	TCGA-KK-A8IG-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082edbc7-1c72-4487-8603-5f20dd332ac3	ab1b5fbe-db21-4790-94c3-f56579040952	g.chr7:124387012C>T	ENST00000303921.2	-	2	2059	c.1409G>A	c.(1408-1410)cGc>cAc	p.R470H		NM_005302.3	NP_005293.1	O15354	GPR37_HUMAN	G protein-coupled receptor 37 (endothelin receptor type B-like)	470					dopamine biosynthetic process (GO:0042416)|G-protein coupled receptor signaling pathway (GO:0007186)|locomotion involved in locomotory behavior (GO:0031987)|positive regulation of dopamine metabolic process (GO:0045964)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|ubiquitin ligase complex (GO:0000151)	G-protein coupled receptor activity (GO:0004930)|heat shock protein binding (GO:0031072)|Hsp70 protein binding (GO:0030544)|ubiquitin protein ligase binding (GO:0031625)	p.R470H(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(11)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						CTCTGCTTTGCGGATTTTCCT	0.463													C|||	1	0.000199681	8e-04	0	5008	,	,		20283	0		0	False		,,,				2504	0					ENST00000303921.2																			1	Substitution - Missense(1)	p.R470H(1)	large_intestine(1)	breast(2)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(11)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(1408-1410)cGc>cAc		G protein-coupled receptor 37 (endothelin receptor type B-like)		C	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	115	108	110		1409	5.7	1	7		110	0,8600		0,0,4300	no	missense	GPR37	NM_005302.2	29	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	470/614	124387012	1,13005	2203	4300	6503	SO:0001583	missense	2861					endoplasmic reticulum membrane|integral to plasma membrane	G-protein coupled receptor activity	g.chr7:124387012C>T		CCDS5792.1	7q31	2012-08-21			ENSG00000170775	ENSG00000170775		"GPCR / Class A : Orphans"	4494	protein-coding gene	gene with protein product		602583				9339362	Standard	NM_005302		Approved	EDNRBL, hET(B)R-LP, PAELR	uc003vli.4	O15354	OTTHUMG00000157197	ENST00000303921.2:c.1409G>A	7.37:g.124387012C>T	ENSP00000306449:p.Arg470His						p.R470H	NM_005302.2	NP_005293.1	O15354	GPR37_HUMAN			2	2059	-			470					A4D0Y6|O00348|O14768|Q8TD39	Missense_Mutation	SNP	ENST00000303921.2	37	c.1409G>A	CCDS5792.1	.	.	.	.	.	.	.	.	.	.	C	16.30	3.084827	0.55861	2.27E-4	0.0	ENSG00000170775	ENST00000303921	T	0.42513	0.97	5.73	5.73	0.89815	GPCR, rhodopsin-like superfamily (1);	0.106913	0.40144	N	0.001180	T	0.39009	0.1062	M	0.62723	1.935	0.43110	D	0.99481	P	0.47350	0.894	B	0.37780	0.258	T	0.40831	-0.9542	10	0.51188	T	0.08	-25.7451	12.2386	0.54530	0.0:0.9229:0.0:0.0771	.	470	O15354	GPR37_HUMAN	H	470	ENSP00000306449:R470H	ENSP00000306449:R470H	R	-	2	0	GPR37	124174248	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.031000	0.57267	2.698000	0.92095	0.655000	0.94253	CGC		0.463	GPR37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347873.1	NM_005302		4	127	0	0	0	1	0	4	127					T	124387012	C	T	124387012	3	4	343	1	0	0	0	0	1	0	0	0	6691	768	27	1	436	1	GPR37	7	124387012	Missense_Mutation	SNP	C	TCGA-KK-A8IG-01A-11D-A364-08	57973372	124387012	34751651	17	17359											
CSMD3	114788	broad.mit.edu	37	chr8	113240989	113240989	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaatcaatgagcttacctttGtttataaagataaaatccaa	18	13	4	6	0	1	2	1	1	0	1	2	2	2	2	2	0	2	2	2	0	9	6			TCGA-KK-A8IG-01A-11D-A364-08	TCGA-KK-A8IG-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082edbc7-1c72-4487-8603-5f20dd332ac3	ab1b5fbe-db21-4790-94c3-f56579040952	g.chr8:113240989G>T	ENST00000297405.5	-	70	11204	c.10960C>A	c.(10960-10962)Caa>Aaa	p.Q3654K	CSMD3_ENST00000352409.3_Missense_Mutation_p.Q3584K|CSMD3_ENST00000455883.2_Missense_Mutation_p.Q3485K|CSMD3_ENST00000343508.3_Missense_Mutation_p.Q3614K	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3654						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						GCTTACCTTTGTTTATAAAGA	0.294										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												ENST00000297405.5																			0				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						c.(10960-10962)Caa>Aaa		CUB and Sushi multiple domains 3							64	70	68					8																	113240989		2203	4295	6498	SO:0001583	missense	114788					integral to membrane|plasma membrane		g.chr8:113240989G>T	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.10960C>A	8.37:g.113240989G>T	ENSP00000297405:p.Gln3654Lys	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_ENST00000343508.3_Missense_Mutation_p.Q3614K|CSMD3_ENST00000455883.2_Missense_Mutation_p.Q3485K|CSMD3_ENST00000352409.3_Missense_Mutation_p.Q3584K	p.Q3654K	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN			70	11204	-			3654					Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	c.10960C>A	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	G	31	5.090627	0.94149	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.25414	2.11;2.11;2.14;1.8;2.13	5.68	5.68	0.88126	.	0.000000	0.64402	D	0.000001	T	0.49253	0.1546	L	0.54323	1.7	0.58432	D	0.999998	D;D;D	0.59767	0.986;0.975;0.971	D;D;P	0.72338	0.977;0.949;0.77	T	0.32534	-0.9903	10	0.54805	T	0.06	.	20.14	0.98056	0.0:0.0:1.0:0.0	.	3485;3654;3614	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	K	3614;3654;2924;3485;3584	ENSP00000345799:Q3614K;ENSP00000297405:Q3654K;ENSP00000341558:Q2924K;ENSP00000412263:Q3485K;ENSP00000343124:Q3584K	ENSP00000297405:Q3654K	Q	-	1	0	CSMD3	113310165	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.813000	0.99286	2.837000	0.97791	0.591000	0.81541	CAA		0.294	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		4	63	1	0	1	1	1	4	63					T	113240989	G	T	113240989	3	4	343	1	0	0	0	0	1	0	0	0	3946	1386	48	5	171	5	CSMD3	8	113240989	Missense_Mutation	SNP	G	TCGA-KK-A8IG-01A-11D-A364-08		113240989	33123033	18	17360											
ARHGAP39	80728	broad.mit.edu	37	chr8	145773234	145773234	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcgtacttgtgccgcgggccGgcgcgcagcttggggctgga	3	7	19	12	6	0	0	0	0	0	0	0	1	0	1	2	5	3	4	2	5	1	3			TCGA-KK-A8IG-01A-11D-A364-08	TCGA-KK-A8IG-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082edbc7-1c72-4487-8603-5f20dd332ac3	ab1b5fbe-db21-4790-94c3-f56579040952	g.chr8:145773234G>A	ENST00000276826.5	-	4	1437	c.1236C>T	c.(1234-1236)gcC>gcT	p.A412A	ARHGAP39_ENST00000377307.2_Silent_p.A412A|ARHGAP39_ENST00000528810.1_5'Flank|ARHGAP39_ENST00000540274.1_Silent_p.A412A			Q9C0H5	RHG39_HUMAN	Rho GTPase activating protein 39	412					axon guidance (GO:0007411)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nucleus (GO:0005634)				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22						GCCGCGGGCCGGCGCGCAGCT	0.711																																						ENST00000276826.5																			0				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22						c.(1234-1236)gcC>gcT		Rho GTPase activating protein 39																																				SO:0001819	synonymous_variant	80728				axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|nucleus	GTPase activator activity	g.chr8:145773234G>A		CCDS34971.1	8q24.3	2011-06-29			ENSG00000147799	ENSG00000147799		"Rho GTPase activating proteins"	29351	protein-coding gene	gene with protein product	"RhoGAP93B homolog (Drosophila)", "crossGAP homolog (Drosophila)"	615880				15755809	Standard	XM_005272344		Approved	KIAA1688, Vilse, CrGAP	uc003zds.1	Q9C0H5	OTTHUMG00000165182	ENST00000276826.5:c.1236C>T	8.37:g.145773234G>A						ARHGAP39_ENST00000377307.2_Silent_p.A412A|ARHGAP39_ENST00000540274.1_Silent_p.A412A	p.A412A			Q9C0H5	RHG39_HUMAN			4	1437	-			412					B4E1I1	Silent	SNP	ENST00000276826.5	37	c.1236C>T																																																																																					0.711	ARHGAP39-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000382509.1			3	9	0	0	0	1	0	3	9					A	145773234	G	A	145773234	2	1	343	1	0	0	0	0	0	0	0	1	884	1103	39	2		2	ARHGAP39	8	145773234	Silent	SNP	G	TCGA-KK-A8IG-01A-11D-A364-08	32532245	145773234	590788	19	17361											
PNPLA7	375775	broad.mit.edu	37	chr9	140444626	140444626	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cccgagttacatacctgtggGctgtcatctttctcttcctc	5	15	7	14	1	3	0	1	0	2	0	6	1	4	0	3	1	2	2	3	1	2	4			TCGA-KK-A8IG-01A-11D-A364-08	TCGA-KK-A8IG-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082edbc7-1c72-4487-8603-5f20dd332ac3	ab1b5fbe-db21-4790-94c3-f56579040952	g.chr9:140444626G>C	ENST00000277531.4	-	1	210	c.24C>G	c.(22-24)agC>agG	p.S8R	PNPLA7_ENST00000406427.1_Missense_Mutation_p.S8R|MRPL41_ENST00000371443.5_5'Flank	NM_152286.3	NP_689499.3	Q6ZV29	PLPL7_HUMAN	patatin-like phospholipase domain containing 7	8					lipid metabolic process (GO:0006629)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	lysophospholipase activity (GO:0004622)			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_cancers(76;0.126)			OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839)		ATACCTGTGGGCTGTCATCTT	0.562																																						ENST00000406427.1																			0				breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						c.(22-24)agC>agG		patatin-like phospholipase domain containing 7							124	109	114					9																	140444626		2203	4300	6503	SO:0001583	missense	375775				lipid metabolic process	endoplasmic reticulum|integral to membrane|lysosomal membrane|microsome|mitochondrial membrane|nuclear membrane	hydrolase activity	g.chr9:140444626G>C	AK126267	CCDS7045.1, CCDS48070.1	9q34.3	2009-01-12	2006-06-12	2006-06-12	ENSG00000130653	ENSG00000130653		"Patatin-like phospholipase domain containing"	24768	protein-coding gene	gene with protein product		612122	"chromosome 9 open reading frame 111"	C9orf111		16799181, 12640454, 19029121	Standard	XM_005266082		Approved	FLJ43070, FLJ31318, FLJ44279, RP11-48C7.2, NTEL1, NTE-R1	uc010ncj.1	Q6ZV29	OTTHUMG00000020990	ENST00000277531.4:c.24C>G	9.37:g.140444626G>C	ENSP00000277531:p.Ser8Arg					PNPLA7_ENST00000277531.4_Missense_Mutation_p.S8R	p.S8R	NM_001098537.1	NP_001092007.1	Q6ZV29	PLPL7_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839)	1	360	-	all_cancers(76;0.126)		8					B5MDD3|Q5T364|Q658X0|Q658Y3|Q6ZTS1|Q86YU8|Q8TAY5|Q96N75|Q9H7N5	Missense_Mutation	SNP	ENST00000277531.4	37	c.24C>G	CCDS7045.1	.	.	.	.	.	.	.	.	.	.	G	9.821	1.185882	0.21870	.	.	ENSG00000130653	ENST00000277531;ENST00000406427;ENST00000371451;ENST00000371450	T;T	0.60672	0.17;0.25	3.22	2.31	0.28768	.	1.458410	0.04413	N	0.366316	T	0.50309	0.1608	L	0.47716	1.5	0.09310	N	0.999995	B;B	0.31351	0.32;0.214	B;B	0.25987	0.065;0.029	T	0.44967	-0.9293	10	0.72032	D	0.01	.	6.3713	0.21483	0.1427:0.0:0.8573:0.0	.	8;8	Q6ZV29-5;Q6ZV29	.;PLPL7_HUMAN	R	8	ENSP00000277531:S8R;ENSP00000384610:S8R	ENSP00000277531:S8R	S	-	3	2	PNPLA7	139564447	0.004000	0.15560	0.003000	0.11579	0.002000	0.02628	1.210000	0.32370	0.697000	0.31718	0.555000	0.69702	AGC		0.562	PNPLA7-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254787.1	NM_152286		25	47	0	0	0	1	0	25	47					C	140444626	G	C	140444626	3	2	343	1	0	0	0	0	1	0	0	0	12170	1194	42	5	4144	5	PNPLA7	9	140444626	Missense_Mutation	SNP	G	TCGA-KK-A8IG-01A-11D-A364-08		140444626	768805	20	17362											
ZNF518A	9849	broad.mit.edu	37	chr10	97917472	97917472	+	RNA	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	taaaattggtgcctatcaaaCaaaatgtatgttcaccaggc	15	11	7	8	0	2	0	2	0	0	0	2	0	2	0	2	2	2	2	2	2	7	5			TCGA-KK-A8IG-01A-11D-A364-08	TCGA-KK-A8IG-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082edbc7-1c72-4487-8603-5f20dd332ac3	ab1b5fbe-db21-4790-94c3-f56579040952	g.chr10:97917472C>G	ENST00000534948.1	+	0	2250							Q6AHZ1	Z518A_HUMAN	zinc finger protein 518A						transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|urinary_tract(2)	24		Colorectal(252;0.0815)		Epithelial(162;4.23e-08)|all cancers(201;1.85e-06)		GCCTATCAAACAAAATGTATG	0.398																																						ENST00000534948.1																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|urinary_tract(2)	24								zinc finger protein 518A							107	106	107					10																	97917472		1880	4105	5985			9849				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr10:97917472C>G	AB002333	CCDS73170.1	10q23.33	2012-08-08	2007-12-07	2007-12-07	ENSG00000177853	ENSG00000177853		"Zinc fingers, C2H2-type"	29009	protein-coding gene	gene with protein product			"zinc finger protein 518"	ZNF518		9205841	Standard	NM_014803		Approved	KIAA0335	uc001klp.3	Q6AHZ1	OTTHUMG00000018828		10.37:g.97917472C>G										Q6AHZ1	Z518A_HUMAN		Epithelial(162;4.23e-08)|all cancers(201;1.85e-06)	0	2250	+		Colorectal(252;0.0815)						A0PJI5|O15044|Q32MP4	RNA	SNP	ENST00000534948.1	37																																																																																						0.398	ZNF518A-202	KNOWN	basic	processed_transcript	processed_transcript		NM_014803		27	56	0	0	0	1	0	27	56					G	97917472	C	G	97917472	1	3	343	0	1	0	0	0	0	0	0	0	17959	479	17	5		5	ZNF518A	10	97917472	RNA	SNP	C	TCGA-KK-A8IG-01A-11D-A364-08		97917472	37617275	21	17363											
TACC2	10579	broad.mit.edu	37	chr10	123844789	123844789	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cactgacatggtttgggagaGttctctgacagaagagtcag	11	10	13	7	0	2	5	1	2	1	3	3	6	2	5	0	2	0	2	0	2	1	2			TCGA-KK-A8IG-01A-11D-A364-08	TCGA-KK-A8IG-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082edbc7-1c72-4487-8603-5f20dd332ac3	ab1b5fbe-db21-4790-94c3-f56579040952	g.chr10:123844789G>T	ENST00000369005.1	+	4	3114	c.2774G>T	c.(2773-2775)aGt>aTt	p.S925I	TACC2_ENST00000513429.1_Intron|TACC2_ENST00000515603.1_Missense_Mutation_p.S925I|TACC2_ENST00000358010.1_Intron|TACC2_ENST00000515273.1_Missense_Mutation_p.S925I|TACC2_ENST00000334433.3_Missense_Mutation_p.S925I|TACC2_ENST00000453444.2_Missense_Mutation_p.S925I	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	925					astral microtubule organization (GO:0030953)|cerebral cortex development (GO:0021987)|interkinetic nuclear migration (GO:0022027)|neurogenesis (GO:0022008)|regulation of microtubule-based process (GO:0032886)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleus (GO:0005634)	nuclear hormone receptor binding (GO:0035257)			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				GTTTGGGAGAGTTCTCTGACA	0.537																																						ENST00000369005.1																			0				NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83						c.(2773-2775)aGt>aTt		transforming, acidic coiled-coil containing protein 2							98	98	98					10																	123844789		2203	4300	6503	SO:0001583	missense	10579					microtubule organizing center|nucleus	nuclear hormone receptor binding	g.chr10:123844789G>T	AF095791	CCDS7625.1, CCDS7626.1, CCDS7627.1, CCDS7628.1	10q26	2008-07-29			ENSG00000138162	ENSG00000138162			11523	protein-coding gene	gene with protein product		605302				14767476	Standard	XM_005269388		Approved	AZU-1	uc001lfv.3	O95359	OTTHUMG00000019181	ENST00000369005.1:c.2774G>T	10.37:g.123844789G>T	ENSP00000358001:p.Ser925Ile					TACC2_ENST00000334433.3_Missense_Mutation_p.S925I|TACC2_ENST00000358010.1_Intron|TACC2_ENST00000513429.1_Intron|TACC2_ENST00000453444.2_Missense_Mutation_p.S925I|TACC2_ENST00000515273.1_Missense_Mutation_p.S925I|TACC2_ENST00000515603.1_Missense_Mutation_p.S925I	p.S925I	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN			4	3114	+		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)	925					Q4VXL0|Q4VXL3|Q4VXL6|Q4VXL7|Q5U5T7|Q86WG6|Q86WG7|Q8TCK9|Q9BVQ1|Q9NZ41|Q9NZR5	Missense_Mutation	SNP	ENST00000369005.1	37	c.2774G>T	CCDS7626.1	.	.	.	.	.	.	.	.	.	.	G	13.95	2.390631	0.42410	.	.	ENSG00000138162	ENST00000369005;ENST00000515273;ENST00000515603;ENST00000334433;ENST00000453444;ENST00000340076	T;T;T;T;T	0.03920	3.78;3.76;3.76;3.78;3.76	5.48	0.2	0.15181	.	1.247280	0.05903	N	0.630385	T	0.03651	0.0104	N	0.24115	0.695	0.09310	N	1	B;B;B	0.10296	0.003;0.003;0.003	B;B;B	0.10450	0.005;0.005;0.005	T	0.47289	-0.9129	10	0.72032	D	0.01	3.3515	1.1519	0.01787	0.2631:0.1415:0.4276:0.1677	.	925;925;925	E9PBC6;E7EMZ9;O95359	.;.;TACC2_HUMAN	I	925;925;925;925;925;915	ENSP00000358001:S925I;ENSP00000424467:S925I;ENSP00000427618:S925I;ENSP00000334280:S925I;ENSP00000395048:S925I	ENSP00000334280:S925I	S	+	2	0	TACC2	123834779	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.393000	0.07305	-0.009000	0.14296	-0.234000	0.12200	AGT		0.537	TACC2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090004.1			25	50	1	0	3.28513e-13	1	3.82147e-13	25	50					T	123844789	G	T	123844789	3	4	343	1	0	0	0	0	1	0	0	0	15499	1029	36	5	2784	5	TACC2	10	123844789	Missense_Mutation	SNP	G	TCGA-KK-A8IG-01A-11D-A364-08	25927317	123844789	11689958	22	17364											
KBTBD3	143879	broad.mit.edu	37	chr11	105929646	105929646	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgacacgggattatttcaTctttcataattattttgaaa	13	17	6	5	1	3	2	2	2	1	0	3	4	3	3	0	1	0	0	0	1	4	7			TCGA-KK-A8IG-01A-11D-A364-08	TCGA-KK-A8IG-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082edbc7-1c72-4487-8603-5f20dd332ac3	ab1b5fbe-db21-4790-94c3-f56579040952	g.chr11:105929646T>C	ENST00000531482.2	-	1	192	c.179A>G	c.(178-180)gAt>gGt	p.D60G	KBTBD3_ENST00000531837.1_Missense_Mutation_p.D60G|KBTBD3_ENST00000526793.1_Missense_Mutation_p.D60G|KBTBD3_ENST00000534815.1_Intron			Q8NAB2	KBTB3_HUMAN	kelch repeat and BTB (POZ) domain containing 3	56	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.									NS(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|prostate(1)	25		Melanoma(852;0.000878)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0321)		BRCA - Breast invasive adenocarcinoma(274;5.43e-05)|Epithelial(105;0.00418)|all cancers(92;0.0299)		GATTATTTCATCTTTCATAAT	0.313																																						ENST00000526793.1																			0				NS(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|prostate(1)	25						c.(178-180)gAt>gGt		kelch repeat and BTB (POZ) domain containing 3							91	90	91					11																	105929646		2201	4299	6500	SO:0001583	missense	143879							g.chr11:105929646T>C	AK055247	CCDS8334.1	11q22.3	2013-01-08	2003-12-12	2003-12-17		ENSG00000182359		"BTB/POZ domain containing"	22934	protein-coding gene	gene with protein product			"BTB and kelch domain containing 3"	BKLHD3			Standard	NM_198439		Approved		uc001pjb.3	Q8NAB2		ENST00000531482.2:c.179A>G	11.37:g.105929646T>C	ENSP00000475836:p.Asp60Gly					KBTBD3_ENST00000531837.1_Missense_Mutation_p.D60G|KBTBD3_ENST00000534815.1_Intron|KBTBD3_ENST00000531482.2_Missense_Mutation_p.D60G	p.D60G	NM_152433.3	NP_689646.2	Q8NAB2	KBTB3_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.43e-05)|Epithelial(105;0.00418)|all cancers(92;0.0299)	2	338	-		Melanoma(852;0.000878)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0321)	56			BTB.		Q6N066|Q86X38|Q96NK5	Missense_Mutation	SNP	ENST00000531482.2	37	c.179A>G		.	.	.	.	.	.	.	.	.	.	T	4.802	0.149172	0.09185	.	.	ENSG00000182359	ENST00000526793;ENST00000531837	T;T	0.67345	-0.26;-0.26	5.7	4.58	0.56647	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.167465	0.64402	D	0.000015	T	0.44891	0.1315	N	0.10782	0.045	0.41702	D	0.9894	B;B	0.06786	0.0;0.001	B;B	0.09377	0.004;0.002	T	0.26360	-1.0105	10	0.19590	T	0.45	.	11.4618	0.50215	0.0:0.0702:0.0:0.9297	.	60;56	A8K1K0;Q8NAB2	.;KBTB3_HUMAN	G	60	ENSP00000436262:D60G;ENSP00000432163:D60G	ENSP00000436262:D60G	D	-	2	0	KBTBD3	105434856	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	3.854000	0.55949	0.997000	0.38969	0.533000	0.62120	GAT		0.313	KBTBD3-006	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000388708.2	NM_152433		16	38	0	0	0	1	0	16	38					C	105929646	T	C	105929646	3	2	343	1	0	0	0	0	1	0	0	0	7994	1435	50	4	1667	4	KBTBD3	11	105929646	Missense_Mutation	SNP	T	TCGA-KK-A8IG-01A-11D-A364-08		105929646	29076870	23	17365											
ATM	472	broad.mit.edu	37	chr11	108124735	108124736	+	Frame_Shift_Del	DEL	CA	CA	-																															tcgctgtcttctgggattatCagaacagcttctgaataatt																										TCGA-KK-A8IG-01A-11D-A364-08	TCGA-KK-A8IG-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082edbc7-1c72-4487-8603-5f20dd332ac3	ab1b5fbe-db21-4790-94c3-f56579040952	g.chr11:108124735_108124736delCA	ENST00000452508.2	+	14	2282_2283	c.2093_2094delCA	c.(2092-2094)tcafs	p.S698fs	ATM_ENST00000278616.4_Frame_Shift_Del_p.S698fs			Q13315	ATM_HUMAN	ATM serine/threonine kinase	698					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|DNA damage induced protein phosphorylation (GO:0006975)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|heart development (GO:0007507)|histone mRNA catabolic process (GO:0071044)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|lipoprotein catabolic process (GO:0042159)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of B cell proliferation (GO:0030889)|neuron apoptotic process (GO:0051402)|oocyte development (GO:0048599)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of neuron apoptotic process (GO:0043525)|pre-B cell allelic exclusion (GO:0002331)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reciprocal meiotic recombination (GO:0007131)|replicative senescence (GO:0090399)|response to hypoxia (GO:0001666)|response to ionizing radiation (GO:0010212)|signal transduction (GO:0007165)|signal transduction involved in mitotic G2 DNA damage checkpoint (GO:0072434)|somitogenesis (GO:0001756)|telomere maintenance (GO:0000723)	cytoplasmic vesicle (GO:0031410)|nucleoplasm (GO:0005654)|spindle (GO:0005819)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|histone serine kinase activity (GO:0035174)|protein complex binding (GO:0032403)|protein dimerization activity (GO:0046983)|protein N-terminus binding (GO:0047485)|protein serine/threonine kinase activity (GO:0004674)	p.C693_Q700>E(1)		NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	Caffeine(DB00201)	CTGGGATTATCAGAACAGCTTC	0.371			"D, Mis, N, F, S"		T-PLL	"leukemia, lymphoma, medulloblastoma, glioma"		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)																												ENST00000278616.4			yes	Rec	yes	Ataxia-telangiectasia	11	11q22.3	472	"D, Mis, N, F, S"	ataxia telangiectasia mutated			"L, O"		"leukemia, lymphoma, medulloblastoma, glioma"	T-PLL		1	Complex - deletion inframe(1)	p.C693_Q700>E(1)	haematopoietic_and_lymphoid_tissue(1)	NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448						c.(2092-2094)tfs	Genes defective in diseases associated with sensitivity to DNA damaging agents	ataxia telangiectasia mutated																																				SO:0001589	frameshift_variant	472	Ataxia Telangiectasia	Familial Cancer Database	AT, Louis-Bar syndrome	cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding	g.chr11:108124735_108124736delCA	AB209133	CCDS31669.1	11q22-q23	2014-09-17	2014-06-17		ENSG00000149311	ENSG00000149311			795	protein-coding gene	gene with protein product	"TEL1, telomere maintenance 1, homolog (S. cerevisiae)"	607585	"ataxia telangiectasia mutated (includes complementation groups A, C and D)", "ataxia telangiectasia mutated"	ATA, ATDC, ATC, ATD			Standard	XM_005271561		Approved	TEL1, TELO1	uc001pkb.1	Q13315	OTTHUMG00000166480	ENST00000452508.2:c.2093_2094delCA	11.37:g.108124735_108124736delCA	ENSP00000388058:p.Ser698fs	TSP Lung(14;0.12)				ATM_ENST00000452508.2_Frame_Shift_Del_p.S698fs	p.S698fs	NM_000051.3	NP_000042.3	Q13315	ATM_HUMAN		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	13	2478_2479	+		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)	698					B2RNX5|O15429|Q12758|Q16551|Q93007|Q9NP02|Q9UCX7	Frame_Shift_Del	DEL	ENST00000452508.2	37	c.2093_2094delCA	CCDS31669.1																																																																																				0.371	ATM-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389938.1	NM_000051		14	77						14	77	---	---	---	---	-	108124736	CA	-	108124735	7	5	343	1	0	1	0	1	0	0	0	0	1109	838	29	0	2139	0	ATM	11	108124735	Frame_Shift_Del	DEL	CA	TCGA-KK-A8IG-01A-11D-A364-08	2195089	108124735	26881781	24	17366											
THY1	7070	broad.mit.edu	37	chr11	119291595	119291595	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtacctgttagcaggagagcGatgctgatggccaggttcat	9	10	14	8	1	1	2	1	1	0	1	1	4	1	2	2	3	4	5	2	3	2	3			TCGA-KK-A8IG-01A-11D-A364-08	TCGA-KK-A8IG-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082edbc7-1c72-4487-8603-5f20dd332ac3	ab1b5fbe-db21-4790-94c3-f56579040952	g.chr11:119291595G>A	ENST00000284240.5	-	2	1060	c.21C>T	c.(19-21)atC>atT	p.I7I	RP11-334E6.12_ENST00000578216.1_RNA|USP2-AS1_ENST00000500970.1_RNA|THY1_ENST00000528522.1_Silent_p.I7I|USP2-AS1_ENST00000578923.1_RNA|USP2-AS1_ENST00000530002.1_RNA|THY1_ENST00000527590.1_Intron|USP2-AS1_ENST00000498979.2_RNA|THY1_ENST00000580275.1_Silent_p.I7I	NM_006288.3	NP_006279.2	P04216	THY1_HUMAN	Thy-1 cell surface antigen	7					angiogenesis (GO:0001525)|cytoskeleton organization (GO:0007010)|focal adhesion assembly (GO:0048041)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell migration (GO:0030336)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of T cell receptor signaling pathway (GO:0050860)|positive regulation of GTPase activity (GO:0043547)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of T cell activation (GO:0050870)|retinal cone cell development (GO:0046549)|single organismal cell-cell adhesion (GO:0016337)|T cell receptor signaling pathway (GO:0050852)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	GPI anchor binding (GO:0034235)|integrin binding (GO:0005178)|Rho GTPase activator activity (GO:0005100)			breast(1)|kidney(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	12		Medulloblastoma(222;0.0523)|Breast(348;0.174)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;3.83e-05)		GCAGGAGAGCGATGCTGATGG	0.607																																						ENST00000284240.5																			0				breast(1)|kidney(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	12						c.(19-21)atC>atT		Thy-1 cell surface antigen							201	176	184					11																	119291595		2199	4295	6494	SO:0001819	synonymous_variant	7070				angiogenesis|cell-cell adhesion|cytoskeleton organization|focal adhesion assembly|negative regulation of axonogenesis|negative regulation of cell migration|negative regulation of protein kinase activity|negative regulation of T cell receptor signaling pathway|positive regulation of release of sequestered calcium ion into cytosol|positive regulation of T cell activation|retinal cone cell development|T cell receptor signaling pathway	endoplasmic reticulum|growth cone|integral to plasma membrane|membrane raft	GPI anchor binding|integrin binding|Rho GTPase activator activity	g.chr11:119291595G>A	M11749	CCDS8424.1	11q23.3	2013-01-14				ENSG00000154096		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	11801	protein-coding gene	gene with protein product		188230				2864690	Standard	NM_006288		Approved	CD90	uc001pwr.3	P04216		ENST00000284240.5:c.21C>T	11.37:g.119291595G>A						USP2-AS1_ENST00000578923.1_RNA|USP2-AS1_ENST00000530002.1_RNA|THY1_ENST00000528522.1_Silent_p.I7I|THY1_ENST00000527590.1_Intron|USP2-AS1_ENST00000500970.1_RNA|THY1_ENST00000580275.1_Silent_p.I7I|USP2-AS1_ENST00000498979.2_RNA	p.I7I	NM_006288.3	NP_006279.2	P04216	THY1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.83e-05)	2	1060	-		Medulloblastoma(222;0.0523)|Breast(348;0.174)|all_neural(223;0.224)	7					Q16008|Q9NSP1	Silent	SNP	ENST00000284240.5	37	c.21C>T	CCDS8424.1																																																																																				0.607	THY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388370.2	NM_006288		17	143	0	0	0	1	0	17	143					A	119291595	G	A	119291595	2	1	343	1	0	0	0	0	0	0	0	1	15882	1048	37	2		2	THY1	11	119291595	Silent	SNP	G	TCGA-KK-A8IG-01A-11D-A364-08	11166860	119291595	15714921	25	17367											
ARHGAP32	9743	broad.mit.edu	37	chr11	128993409	128993409	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agccatcttcggaaagtgacCtttagtgaagggtaacctga	12	10	11	8	1	1	3	0	3	1	0	2	4	1	4	3	2	2	1	3	2	4	4			TCGA-KK-A8IG-01A-11D-A364-08	TCGA-KK-A8IG-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082edbc7-1c72-4487-8603-5f20dd332ac3	ab1b5fbe-db21-4790-94c3-f56579040952	g.chr11:128993409C>T	ENST00000310343.9	-	4	333	c.334G>A	c.(334-336)Ggt>Agt	p.G112S	ARHGAP32_ENST00000524655.1_Missense_Mutation_p.G38S	NM_001142685.1	NP_001136157.1	A7KAX9	RHG32_HUMAN	Rho GTPase activating protein 32	112					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cell projection (GO:0042995)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|postsynaptic membrane (GO:0045211)	GTPase activator activity (GO:0005096)|phosphatidylinositol binding (GO:0035091)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(28)|ovary(3)|prostate(6)|urinary_tract(3)	60						GGAAAGTGACCTTTAGTGAAG	0.338																																						ENST00000310343.9																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(28)|ovary(3)|prostate(6)|urinary_tract(3)	60						c.(334-336)Ggt>Agt		Rho GTPase activating protein 32							96	85	89					11																	128993409		1566	3579	5145	SO:0001583	missense	9743				cell communication|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell cortex|cell junction|cytosol|dendritic spine|endoplasmic reticulum membrane|endosome membrane|Golgi membrane|postsynaptic density|postsynaptic membrane	GTPase activator activity|phosphatidylinositol binding	g.chr11:128993409C>T	AB018255	CCDS31718.1, CCDS44769.1	11q24.3	2011-06-29			ENSG00000134909	ENSG00000134909		"Rho GTPase activating proteins"	17399	protein-coding gene	gene with protein product		608541				12446789, 12819203, 17663722	Standard	NM_014715		Approved	GRIT, KIAA0712, MGC1892, RICS, GC-GAP	uc009zcp.3	A7KAX9	OTTHUMG00000165774	ENST00000310343.9:c.334G>A	11.37:g.128993409C>T	ENSP00000310561:p.Gly112Ser					ARHGAP32_ENST00000524655.1_Missense_Mutation_p.G38S	p.G112S	NM_001142685.1	NP_001136157.1	A7KAX9	RHG32_HUMAN			4	333	-			112					I7H0B0|O94820|Q86YL6|Q8IUG4|Q9BWG3	Missense_Mutation	SNP	ENST00000310343.9	37	c.334G>A	CCDS44769.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.408908	0.83340	.	.	ENSG00000134909	ENST00000310343;ENST00000524655;ENST00000457677;ENST00000525234	T;T;T	0.76968	-1.06;-1.06;-1.06	5.55	5.55	0.83447	.	.	.	.	.	D	0.82825	0.5121	L	0.33245	0.995	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.74674	0.958;0.984	T	0.83015	-0.0170	9	0.48119	T	0.1	.	18.0611	0.89378	0.0:1.0:0.0:0.0	.	46;112	Q86T64;A7KAX9	.;RHG32_HUMAN	S	112;38;46;86	ENSP00000310561:G112S;ENSP00000432468:G38S;ENSP00000432303:G86S	ENSP00000310561:G112S	G	-	1	0	ARHGAP32	128498619	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.770000	0.74990	2.597000	0.87782	0.655000	0.94253	GGT		0.338	ARHGAP32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386151.3	NM_014715		7	15	0	0	0	1	0	7	15					T	128993409	C	T	128993409	3	4	343	1	0	0	0	0	1	0	0	0	881	681	24	3	6005	3	ARHGAP32	11	128993409	Missense_Mutation	SNP	C	TCGA-KK-A8IG-01A-11D-A364-08	9701814	128993409	6013107	26	17368											
ALX1	8092	broad.mit.edu	37	chr12	85677394	85677394	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aaggacagccccttcacaccGaactgaatagagctatggac	14	6	9	12	1	1	2	1	1	0	1	1	5	1	4	3	2	3	1	3	2	5	3			TCGA-KK-A8IG-01A-11D-A364-08	TCGA-KK-A8IG-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082edbc7-1c72-4487-8603-5f20dd332ac3	ab1b5fbe-db21-4790-94c3-f56579040952	g.chr12:85677394G>A	ENST00000316824.3	+	2	426	c.271G>A	c.(271-273)Gaa>Aaa	p.E91K		NM_006982.2	NP_008913.2	Q15699	ALX1_HUMAN	ALX homeobox 1	91					anterior/posterior pattern specification (GO:0009952)|brain development (GO:0007420)|cartilage condensation (GO:0001502)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal system morphogenesis (GO:0048704)|mesenchymal cell development (GO:0014031)|multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|palate development (GO:0060021)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|ovary(1)	26				GBM - Glioblastoma multiforme(134;0.134)		CCTTCACACCGAACTGAATAG	0.453																																						ENST00000316824.3																			0				breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|ovary(1)	26						c.(271-273)Gaa>Aaa		ALX homeobox 1							103	96	98					12																	85677394		2203	4300	6503	SO:0001583	missense	8092				brain development|cartilage condensation|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter		sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr12:85677394G>A	U31986	CCDS9028.1	12q21.31	2011-06-20	2007-07-26	2007-07-26		ENSG00000180318		"Homeoboxes / PRD class"	1494	protein-coding gene	gene with protein product		601527	"cartilage paired-class homeoprotein 1"	CART1		8756334, 7592751	Standard	NM_006982		Approved		uc001tae.4	Q15699	OTTHUMG00000169820	ENST00000316824.3:c.271G>A	12.37:g.85677394G>A	ENSP00000315417:p.Glu91Lys						p.E91K	NM_006982.2	NP_008913.2	Q15699	ALX1_HUMAN		GBM - Glioblastoma multiforme(134;0.134)	2	426	+			91					Q546C8|Q96FH4	Missense_Mutation	SNP	ENST00000316824.3	37	c.271G>A	CCDS9028.1	.	.	.	.	.	.	.	.	.	.	G	15.37	2.814603	0.50527	.	.	ENSG00000180318	ENST00000316824	D	0.91945	-2.94	5.62	5.62	0.85841	.	0.053669	0.85682	D	0.000000	D	0.83124	0.5186	N	0.19112	0.55	0.58432	D	0.99999	P	0.46912	0.886	B	0.26969	0.075	T	0.83316	-0.0020	10	0.25106	T	0.35	.	20.0205	0.97499	0.0:0.0:1.0:0.0	.	91	Q15699	ALX1_HUMAN	K	91	ENSP00000315417:E91K	ENSP00000315417:E91K	E	+	1	0	ALX1	84201525	1.000000	0.71417	0.959000	0.39883	0.637000	0.38172	5.656000	0.67988	2.801000	0.96364	0.650000	0.86243	GAA		0.453	ALX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406072.1	NM_006982		19	26	0	0	0	1	0	19	26					A	85677394	G	A	85677394	3	1	343	1	0	0	0	0	1	0	0	0	556	1059	37	2	277	2	ALX1	12	85677394	Missense_Mutation	SNP	G	TCGA-KK-A8IG-01A-11D-A364-08		85677394	48174501	27	17369											
OR4N2	390429	broad.mit.edu	37	chr14	20296284	20296284	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtcattctttgtcgcatacGagggtcttcttctgaggcaa	8	14	10	9	2	5	1	1	1	4	0	6	2	5	1	0	2	1	2	0	2	2	5			TCGA-KK-A8IG-01A-11D-A364-08	TCGA-KK-A8IG-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082edbc7-1c72-4487-8603-5f20dd332ac3	ab1b5fbe-db21-4790-94c3-f56579040952	g.chr14:20296284G>T	ENST00000315947.1	+	1	677	c.677G>T	c.(676-678)cGa>cTa	p.R226L	OR4N2_ENST00000568211.1_3'UTR	NM_001004723.1	NP_001004723.1	Q8NGD1	OR4N2_HUMAN	olfactory receptor, family 4, subfamily N, member 2	226						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(32)|ovary(2)|prostate(1)|skin(2)|stomach(2)	52	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TGTCGCATACGAGGGTCTTCT	0.478																																						ENST00000315947.1																			0				breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(32)|ovary(2)|prostate(1)|skin(2)|stomach(2)	52						c.(676-678)cGa>cTa		olfactory receptor, family 4, subfamily N, member 2							108	109	109					14																	20296284		2203	4300	6503	SO:0001583	missense	390429				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20296284G>T		CCDS32022.1	14q11.2	2013-09-23				ENSG00000176294		"GPCR / Class A : Olfactory receptors"	14742	protein-coding gene	gene with protein product							Standard	NM_001004723		Approved		uc010tkv.2	Q8NGD1		ENST00000315947.1:c.677G>T	14.37:g.20296284G>T	ENSP00000319601:p.Arg226Leu					OR4N2_ENST00000568211.1_3'UTR	p.R226L	NM_001004723.1	NP_001004723.1	Q8NGD1	OR4N2_HUMAN	Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)	1	677	+	all_cancers(95;0.00108)		226					Q6IEY9|Q6IFA2	Missense_Mutation	SNP	ENST00000315947.1	37	c.677G>T	CCDS32022.1	.	.	.	.	.	.	.	.	.	.	.	10.63	1.404063	0.25291	.	.	ENSG00000176294	ENST00000315947	T	0.00011	9.36	4.52	-6.44	0.01920	GPCR, rhodopsin-like superfamily (1);	1.335570	0.05242	N	0.512395	T	0.00356	0.0011	M	0.90977	3.165	0.09310	N	1	P	0.35272	0.493	P	0.49922	0.626	T	0.07927	-1.0747	10	0.72032	D	0.01	0.0781	14.5248	0.67881	0.7979:0.0:0.2021:0.0	.	226	Q8NGD1	OR4N2_HUMAN	L	226	ENSP00000319601:R226L	ENSP00000319601:R226L	R	+	2	0	OR4N2	19366124	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.439000	0.06897	-1.406000	0.02045	-0.225000	0.12378	CGA		0.478	OR4N2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409821.2			8	135	1	0	0.000442599	1	0.000458694	8	135					T	20296284	G	T	20296284	3	4	343	1	0	0	0	0	1	0	0	0	11077	1058	37	5	679	5	OR4N2	14	20296284	Missense_Mutation	SNP	G	TCGA-KK-A8IG-01A-11D-A364-08		20296284	87053256	28	17370											
ARHGAP5	394	broad.mit.edu	37	chr14	32562152	32562152	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtattggaatcagttaaacaCaatttggatgtggtgagccc	12	12	11	6	0	1	1	1	1	0	0	1	3	1	3	1	3	2	2	1	3	5	4			TCGA-KK-A8IG-01A-11D-A364-08	TCGA-KK-A8IG-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082edbc7-1c72-4487-8603-5f20dd332ac3	ab1b5fbe-db21-4790-94c3-f56579040952	g.chr14:32562152C>A	ENST00000345122.3	+	2	2592	c.2277C>A	c.(2275-2277)caC>caA	p.H759Q	ARHGAP5_ENST00000433497.1_Intron|ARHGAP5_ENST00000432921.1_Missense_Mutation_p.H759Q|ARHGAP5_ENST00000396582.2_Intron|ARHGAP5_ENST00000556611.1_Missense_Mutation_p.H759Q|ARHGAP5_ENST00000539826.2_Missense_Mutation_p.H759Q	NM_001030055.1	NP_001025226.1	Q13017	RHG05_HUMAN	Rho GTPase activating protein 5	759					cell adhesion (GO:0007155)|GTP catabolic process (GO:0006184)|mammary gland development (GO:0030879)|positive regulation of cell migration (GO:0030335)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell size (GO:0008361)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|Rho GTPase activator activity (GO:0005100)|SH2 domain binding (GO:0042169)			NS(2)|breast(10)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(12)|ovary(4)|skin(1)|stomach(1)|urinary_tract(4)	55	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00566)		CAGTTAAACACAATTTGGATG	0.408																																					NSCLC(9;77 350 3443 29227 41353)	ENST00000345122.3																			0				NS(2)|breast(10)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(12)|ovary(4)|skin(1)|stomach(1)|urinary_tract(4)	55						c.(2275-2277)caC>caA		Rho GTPase activating protein 5							111	106	107					14																	32562152		2203	4300	6503	SO:0001583	missense	394				cell adhesion|Rho protein signal transduction	cytosol|membrane	GTP binding|GTPase activity|Rho GTPase activator activity|SH2 domain binding	g.chr14:32562152C>A	U17032	CCDS32062.1, CCDS45095.1	14q12	2010-02-05						"Rho GTPase activating proteins"	675	protein-coding gene	gene with protein product		602680	"growth factor independent 2"	GFI2		8537347	Standard	XM_005267635		Approved	RhoGAP5, p190-B, p190BRhoGAP	uc001wrn.3	Q13017		ENST00000345122.3:c.2277C>A	14.37:g.32562152C>A	ENSP00000371897:p.His759Gln					ARHGAP5_ENST00000432921.1_Missense_Mutation_p.H759Q|ARHGAP5_ENST00000396582.2_Intron|ARHGAP5_ENST00000539826.2_Missense_Mutation_p.H759Q|ARHGAP5_ENST00000556611.1_Missense_Mutation_p.H759Q|ARHGAP5_ENST00000433497.1_Intron	p.H759Q	NM_001030055.1	NP_001025226.1	Q13017	RHG05_HUMAN	LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00566)	2	2592	+	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186)		759					A1L375|A1L376|A8KAA1|D3DS89|D3DS90|Q05BE8|Q05BU8|Q59ER0|Q6DHZ3	Missense_Mutation	SNP	ENST00000345122.3	37	c.2277C>A	CCDS32062.1	.	.	.	.	.	.	.	.	.	.	C	5.759	0.324519	0.10900	.	.	ENSG00000100852	ENST00000556611;ENST00000539826;ENST00000345122;ENST00000432921	T;T;T;T	0.40756	1.02;1.02;1.02;1.02	5.5	-0.0491	0.13836	.	0.129842	0.64402	N	0.000001	T	0.24353	0.0590	L	0.29908	0.895	0.50632	D	0.999884	B;B	0.21905	0.062;0.037	B;B	0.21917	0.037;0.017	T	0.05305	-1.0893	10	0.22109	T	0.4	.	6.1679	0.20400	0.0:0.4916:0.1186:0.3899	.	759;759	Q13017-2;Q13017	.;RHG05_HUMAN	Q	759	ENSP00000452222:H759Q;ENSP00000441692:H759Q;ENSP00000371897:H759Q;ENSP00000393307:H759Q	ENSP00000371897:H759Q	H	+	3	2	ARHGAP5	31631903	0.993000	0.37304	0.994000	0.49952	0.992000	0.81027	0.381000	0.20619	-0.233000	0.09797	-0.143000	0.13931	CAC		0.408	ARHGAP5-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000409735.1	NM_001030055		19	77	1	0	2.4624e-09	1	2.80713e-09	19	77					A	32562152	C	A	32562152	3	1	343	1	0	0	0	0	1	0	0	0	886	477	17	5	2279	5	ARHGAP5	14	32562152	Missense_Mutation	SNP	C	TCGA-KK-A8IG-01A-11D-A364-08	12265868	32562152	74787388	29	17371											
FOXA1	3169	broad.mit.edu	37	chr14	38061202	38061203	+	Frame_Shift_Ins	INS	-	-	GCGGC																															tcgcacttgaagcgcttctgINSgcggcgcaagtagcagccgt																										TCGA-KK-A8IG-01A-11D-A364-08	TCGA-KK-A8IG-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082edbc7-1c72-4487-8603-5f20dd332ac3	ab1b5fbe-db21-4790-94c3-f56579040952	g.chr14:38061202_38061203insGCGGC	ENST00000250448.2	-	2	847_848	c.786_787insGCCGC	c.(784-789)cgccagfs	p.Q263fs	FOXA1_ENST00000545425.2_5'UTR|FOXA1_ENST00000540786.1_Frame_Shift_Ins_p.Q230fs	NM_004496.3	NP_004487.2	P55317	FOXA1_HUMAN	forkhead box A1	263					anatomical structure formation involved in morphogenesis (GO:0048646)|chromatin remodeling (GO:0006338)|dorsal/ventral neural tube patterning (GO:0021904)|epithelial cell maturation involved in prostate gland development (GO:0060743)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|epithelial-mesenchymal signaling involved in prostate gland development (GO:0060738)|glucose homeostasis (GO:0042593)|hormone metabolic process (GO:0042445)|lung epithelial cell differentiation (GO:0060487)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron fate specification (GO:0048665)|positive regulation of cell-cell adhesion mediated by cadherin (GO:2000049)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prostate gland epithelium morphogenesis (GO:0060740)|prostate gland stromal morphogenesis (GO:0060741)|response to estradiol (GO:0032355)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)	microvillus (GO:0005902)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|endometrium(1)|large_intestine(2)|lung(3)|prostate(12)	19	Breast(36;0.0954)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		Lung(238;5.41e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0454)|LUSC - Lung squamous cell carcinoma(13;0.0917)|all cancers(34;0.0925)|BRCA - Breast invasive adenocarcinoma(188;0.239)	GBM - Glioblastoma multiforme(112;0.0222)		AAGCGCTTCTGGCGGCGCAAGT	0.713																																						ENST00000250448.2																			0				breast(1)|endometrium(1)|large_intestine(2)|lung(3)|prostate(12)	19						c.(784-789)cgagaafs		forkhead box A1																																				SO:0001589	frameshift_variant	3169				chromatin remodeling|embryo development|epithelial cell maturation involved in prostate gland development|epithelial tube branching involved in lung morphogenesis|epithelial-mesenchymal signaling involved in prostate gland development|glucose homeostasis|lung epithelial cell differentiation|negative regulation of survival gene product expression|neuron fate specification|pattern specification process|positive regulation of estrogen receptor signaling pathway|positive regulation of mitotic cell cycle|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|prostate gland epithelium morphogenesis|prostate gland stromal morphogenesis|response to estradiol stimulus|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development	transcription factor complex	DNA bending activity|double-stranded DNA binding|protein domain specific binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding	g.chr14:38061202_38061203insGCGGC	U39840	CCDS9665.1	14q12-q13	2008-04-10		2002-09-20	ENSG00000129514	ENSG00000129514		"Forkhead boxes"	5021	protein-coding gene	gene with protein product		602294	"hepatocyte nuclear factor 3, alpha"	HNF3A		9119385, 8652662	Standard	NM_004496		Approved		uc001wuf.4	P55317	OTTHUMG00000140253	ENST00000250448.2:c.782_786dupGCCGC	14.37:g.38061203_38061207dupGCGGC	ENSP00000250448:p.Gln263fs					FOXA1_ENST00000545425.2_5'UTR|FOXA1_ENST00000540786.1_Frame_Shift_Ins_p.E230fs	p.E263fs	NM_004496.3	NP_004487.2	P55317	FOXA1_HUMAN	Lung(238;5.41e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0454)|LUSC - Lung squamous cell carcinoma(13;0.0917)|all cancers(34;0.0925)|BRCA - Breast invasive adenocarcinoma(188;0.239)	GBM - Glioblastoma multiforme(112;0.0222)	2	847_848	-	Breast(36;0.0954)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		263					B2R9H6|B7ZAP5|Q9H2A0	Frame_Shift_Ins	INS	ENST00000250448.2	37	c.786_787insGCCGC	CCDS9665.1																																																																																				0.713	FOXA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276735.1			5	8						5	8	---	---	---	---	GCGGC	38061203	-	GCGGC	38061202	7	5	343	1	0	1	1	0	0	0	0	0	5989	1357	47	0	635	0	FOXA1	14	38061202	Frame_Shift_Ins	INS	-	TCGA-KK-A8IG-01A-11D-A364-08	5499050	38061202	69288338	30	17372											
SSTR1	6751	broad.mit.edu	37	chr14	38679570	38679570	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	accccatcctctatggctttCtctcagacaacttcaagcgc	9	11	5	16	1	4	1	2	0	2	1	6	1	5	1	3	1	2	1	3	1	3	3	rs199603499		TCGA-KK-A8IG-01A-11D-A364-08	TCGA-KK-A8IG-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082edbc7-1c72-4487-8603-5f20dd332ac3	ab1b5fbe-db21-4790-94c3-f56579040952	g.chr14:38679570C>T	ENST00000267377.2	+	3	1593	c.976C>T	c.(976-978)Ctc>Ttc	p.L326F		NM_001049.2	NP_001040.1	P30872	SSR1_HUMAN	somatostatin receptor 1	326					cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|cellular response to estradiol stimulus (GO:0071392)|cerebellum development (GO:0021549)|digestion (GO:0007586)|forebrain development (GO:0030900)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|glutamate receptor signaling pathway (GO:0007215)|negative regulation of cell proliferation (GO:0008285)|response to nutrient (GO:0007584)|response to starvation (GO:0042594)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	somatostatin receptor activity (GO:0004994)			breast(1)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00444)	Octreotide(DB00104)|Pasireotide(DB06663)	CTATGGCTTTCTCTCAGACAA	0.582													C|||	1	0.000199681	8e-04	0	5008	,	,		19948	0		0	False		,,,				2504	0					ENST00000267377.2																			0				breast(1)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29						c.(976-978)Ctc>Ttc		somatostatin receptor 1	Octreotide(DB00104)						143	135	138					14																	38679570		2203	4300	6503	SO:0001583	missense	0				digestion|G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cell proliferation|response to nutrient	integral to plasma membrane	somatostatin receptor activity	g.chr14:38679570C>T		CCDS9666.1	14q13	2012-08-08			ENSG00000139874	ENSG00000139874		"GPCR / Class A : Somatostatin receptors"	11330	protein-coding gene	gene with protein product		182451				8449518	Standard	NM_001049		Approved		uc001wul.1	P30872	OTTHUMG00000140249	ENST00000267377.2:c.976C>T	14.37:g.38679570C>T	ENSP00000267377:p.Leu326Phe						p.L326F	NM_001049.2	NP_001040.1	P30872	SSR1_HUMAN	Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00444)	3	1593	+	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		326						Missense_Mutation	SNP	ENST00000267377.2	37	c.976C>T	CCDS9666.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	15.24	2.775169	0.49786	.	.	ENSG00000139874	ENST00000267377	T	0.38077	1.16	4.82	4.82	0.62117	.	0.000000	0.52532	D	0.000076	T	0.37705	0.1013	L	0.42245	1.32	0.54753	D	0.999984	B	0.33528	0.416	B	0.37888	0.26	T	0.36768	-0.9734	10	0.72032	D	0.01	.	17.0667	0.86561	0.0:1.0:0.0:0.0	.	326	P30872	SSR1_HUMAN	F	326	ENSP00000267377:L326F	ENSP00000267377:L326F	L	+	1	0	SSTR1	37749321	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.450000	0.44943	2.514000	0.84764	0.561000	0.74099	CTC		0.582	SSTR1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409930.2			28	58	0	0	0	1	0	28	58					T	38679570	C	T	38679570	3	4	343	1	0	0	0	0	1	0	0	0	15196	913	32	3	978	3	SSTR1	14	38679570	Missense_Mutation	SNP	C	TCGA-KK-A8IG-01A-11D-A364-08	618368	38679570	68669970	31	17373											
ASPG	374569	broad.mit.edu	37	chr14	104573550	104573550	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gggcctggtggactttaacgGccaaaccccactgcacgcgg	8	6	13	14	3	0	0	0	0	0	0	0	1	0	1	4	5	3	1	4	5	2	2			TCGA-KK-A8IG-01A-11D-A364-08	TCGA-KK-A8IG-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082edbc7-1c72-4487-8603-5f20dd332ac3	ab1b5fbe-db21-4790-94c3-f56579040952	g.chr14:104573550G>A	ENST00000551177.1	+	12	1393	c.1301G>A	c.(1300-1302)gGc>gAc	p.G434D	ASPG_ENST00000546892.2_Missense_Mutation_p.G434D|ASPG_ENST00000549809.1_3'UTR|ASPG_ENST00000455920.2_Missense_Mutation_p.G434D	NM_001080464.2	NP_001073933.2	Q86U10	LPP60_HUMAN	asparaginase	434					asparagine metabolic process (GO:0006528)|lipid catabolic process (GO:0016042)|phospholipid metabolic process (GO:0006644)		1-alkyl-2-acetylglycerophosphocholine esterase activity (GO:0003847)|asparaginase activity (GO:0004067)|lysophospholipase activity (GO:0004622)			endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	11						GACTTTAACGGCCAAACCCCA	0.667																																						ENST00000551177.1																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	11						c.(1300-1302)gGc>gAc		asparaginase homolog (S. cerevisiae)							35	45	42					14																	104573550		2041	4186	6227	SO:0001583	missense	374569				lipid catabolic process		1-alkyl-2-acetylglycerophosphocholine esterase activity|asparaginase activity|lysophospholipase activity	g.chr14:104573550G>A		CCDS45170.1, CCDS45170.2	14q32.33	2014-03-14	2014-03-14	2008-11-06	ENSG00000166183	ENSG00000166183	3.1.1.5, 3.5.1.1	"Ankyrin repeat domain containing"	20123	protein-coding gene	gene with protein product	"60-kDa-lysophospholipase"		"chromosome 14 open reading frame 76", "asparaginase homolog (S. cerevisiae)"	C14orf76			Standard	NM_001080464		Approved		uc001yoq.2	Q86U10		ENST00000551177.1:c.1301G>A	14.37:g.104573550G>A	ENSP00000450040:p.Gly434Asp					ASPG_ENST00000546892.2_Missense_Mutation_p.G434D|ASPG_ENST00000549809.1_3'UTR|ASPG_ENST00000455920.2_Missense_Mutation_p.G434D	p.G434D	NM_001080464.2	NP_001073933.2	Q86U10	LPP60_HUMAN			12	1393	+			434					B9EGQ2|Q8IV80	Missense_Mutation	SNP	ENST00000551177.1	37	c.1301G>A	CCDS45170.2	.	.	.	.	.	.	.	.	.	.	G	17.83	3.484965	0.63962	.	.	ENSG00000166183	ENST00000551177;ENST00000299234;ENST00000546892;ENST00000455920	T;T;T	0.62788	0.0;0.78;0.0	4.62	4.62	0.57501	Ankyrin repeat-containing domain (4);	0.000000	0.85682	D	0.000000	T	0.77485	0.4137	M	0.76170	2.325	0.38187	D	0.939808	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;1.0;0.999;0.997	T	0.82226	-0.0562	10	0.72032	D	0.01	-22.5434	12.9635	0.58472	0.0:0.0:1.0:0.0	.	434;434;434;462	G3V1Y8;Q86U10;Q86U10-3;E5RFC2	.;LPP60_HUMAN;.;.	D	434;462;434;434	ENSP00000450040:G434D;ENSP00000448911:G434D;ENSP00000389003:G434D	ENSP00000299234:G462D	G	+	2	0	ASPG	103643303	0.999000	0.42202	0.040000	0.18447	0.022000	0.10575	3.705000	0.54823	2.108000	0.64289	0.462000	0.41574	GGC		0.667	ASPG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407005.1	NM_001080464		3	45	0	0	0	1	0	3	45					A	104573550	G	A	104573550	3	1	343	1	0	0	0	0	1	0	0	0	1052	1203	42	3	1347	3	ASPG	14	104573550	Missense_Mutation	SNP	G	TCGA-KK-A8IG-01A-11D-A364-08	65893980	104573550	2775990	32	17374											
AP3B2	8120	broad.mit.edu	37	chr15	83350314	83350314	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacacggagggcactggcacGaatcagctggttgggatcct	9	7	15	10	2	1	0	1	0	0	0	2	4	2	2	1	5	1	4	1	5	1	1			TCGA-KK-A8IG-01A-11D-A364-08	TCGA-KK-A8IG-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082edbc7-1c72-4487-8603-5f20dd332ac3	ab1b5fbe-db21-4790-94c3-f56579040952	g.chr15:83350314G>T	ENST00000261722.3	-	5	586	c.379C>A	c.(379-381)Cgt>Agt	p.R127S	RP11-752G15.3_ENST00000560650.1_RNA|AP3B2_ENST00000535348.1_Missense_Mutation_p.R95S|AP3B2_ENST00000535359.1_Missense_Mutation_p.R127S	NM_004644.3	NP_004635.2	Q13367	AP3B2_HUMAN	adaptor-related protein complex 3, beta 2 subunit	127					anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|intracellular protein transport (GO:0006886)|post-Golgi vesicle-mediated transport (GO:0006892)	AP-3 adaptor complex (GO:0030123)|COPI-coated vesicle (GO:0030137)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	transporter activity (GO:0005215)			breast(4)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(2)	41			BRCA - Breast invasive adenocarcinoma(143;0.229)			GCACTGGCACGAATCAGCTGG	0.572																																						ENST00000261722.3																			0				breast(4)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(2)	41						c.(379-381)Cgt>Agt		adaptor-related protein complex 3, beta 2 subunit							86	88	87					15																	83350314		2098	4222	6320	SO:0001583	missense	8120				endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport	clathrin coated vesicle membrane|COPI-coated vesicle|membrane coat	binding|protein transporter activity	g.chr15:83350314G>T	U37673	CCDS45331.1, CCDS61736.1, CCDS61737.1	15q	2008-07-07			ENSG00000103723	ENSG00000103723			567	protein-coding gene	gene with protein product		602166				7671305, 1851215	Standard	NM_004644		Approved	NAPTB	uc010uoh.2	Q13367	OTTHUMG00000168009	ENST00000261722.3:c.379C>A	15.37:g.83350314G>T	ENSP00000261722:p.Arg127Ser					AP3B2_ENST00000535348.1_Missense_Mutation_p.R95S|RP11-752G15.3_ENST00000560650.1_RNA|AP3B2_ENST00000535359.1_Missense_Mutation_p.R127S	p.R127S	NM_004644.3	NP_004635.2	Q13367	AP3B2_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.229)		5	586	-			127					A4Z4T7|B7ZKR7|B7ZKS0|O14808|Q52LY8	Missense_Mutation	SNP	ENST00000261722.3	37	c.379C>A	CCDS45331.1	.	.	.	.	.	.	.	.	.	.	G	24.1	4.492504	0.84962	.	.	ENSG00000103723	ENST00000261722;ENST00000535348;ENST00000535359;ENST00000541693	T;T;T;T	0.26957	1.7;1.7;1.7;1.7	5.09	5.09	0.68999	Clathrin/coatomer adaptor, adaptin-like, N-terminal (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.68723	0.3032	H	0.97852	4.09	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.97110	0.997;0.999;1.0	T	0.81824	-0.0755	10	0.87932	D	0	-16.5501	18.6878	0.91571	0.0:0.0:1.0:0.0	.	95;127;127	B7ZKR7;B7ZKS0;Q13367	.;.;AP3B2_HUMAN	S	127;95;127;83	ENSP00000261722:R127S;ENSP00000438721:R95S;ENSP00000440984:R127S;ENSP00000441961:R83S	ENSP00000261722:R127S	R	-	1	0	AP3B2	81147368	1.000000	0.71417	0.821000	0.32701	0.992000	0.81027	6.172000	0.71932	2.642000	0.89623	0.563000	0.77884	CGT		0.572	AP3B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397463.1			9	34	1	0	2.17888e-05	1	2.38838e-05	9	34					T	83350314	G	T	83350314	3	4	343	1	0	0	0	0	1	0	0	0	745	1058	37	5	2881	5	AP3B2	15	83350314	Missense_Mutation	SNP	G	TCGA-KK-A8IG-01A-11D-A364-08		83350314	19181078	33	17375											
WDR73	84942	broad.mit.edu	37	chr15	85189499	85189499	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atggaggactccgggtgccaAtgtggagaagacggccaccc	10	5	15	11	2	0	2	0	0	0	2	1	5	1	4	4	5	1	0	4	5	2	0			TCGA-KK-A8IG-01A-11D-A364-08	TCGA-KK-A8IG-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082edbc7-1c72-4487-8603-5f20dd332ac3	ab1b5fbe-db21-4790-94c3-f56579040952	g.chr15:85189499A>G	ENST00000434634.2	-	6	493	c.433T>C	c.(433-435)Ttg>Ctg	p.L145L	WDR73_ENST00000398528.3_5'UTR	NM_032856.2	NP_116245.2	Q6P4I2	WDR73_HUMAN	WD repeat domain 73	145										cervix(1)|large_intestine(1)|lung(1)	3						CCGGGTGCCAATGTGGAGAAG	0.562																																						ENST00000434634.2																			0				cervix(1)|large_intestine(1)|lung(1)	3						c.(433-435)Ttg>Ctg		WD repeat domain 73							58	62	61					15																	85189499		1977	4160	6137	SO:0001819	synonymous_variant	84942							g.chr15:85189499A>G	AK027200	CCDS45339.1	15q25.2	2013-01-09				ENSG00000177082		"WD repeat domain containing"	25928	protein-coding gene	gene with protein product						12477932	Standard	NM_032856		Approved	FLJ14888, HSPC264	uc002bkw.2	Q6P4I2		ENST00000434634.2:c.433T>C	15.37:g.85189499A>G						WDR73_ENST00000398528.3_5'UTR	p.L145L	NM_032856.2	NP_116245.2	Q6P4I2	WDR73_HUMAN			6	493	-			145					Q96JZ1|Q9P0B7	Silent	SNP	ENST00000434634.2	37	c.433T>C	CCDS45339.1																																																																																				0.562	WDR73-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418195.1	NM_032856		6	32	0	0	0	1	0	6	32					G	85189499	A	G	85189499	2	3	343	1	0	0	0	0	0	0	0	1	17320	98	4	4		4	WDR73	15	85189499	Silent	SNP	A	TCGA-KK-A8IG-01A-11D-A364-08	1839185	85189499	17341893	34	17376											
ACAN	176	broad.mit.edu	37	chr15	89392695	89392695	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgttcttcgccacacgccttGagcagttcaccttccaggaa	8	11	8	14	2	2	1	1	1	1	0	4	2	3	2	4	1	1	3	4	1	1	5			TCGA-KK-A8IG-01A-11D-A364-08	TCGA-KK-A8IG-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082edbc7-1c72-4487-8603-5f20dd332ac3	ab1b5fbe-db21-4790-94c3-f56579040952	g.chr15:89392695G>C	ENST00000561243.1	+	9	1759	c.1759G>C	c.(1759-1761)Gag>Cag	p.E587Q	ACAN_ENST00000559004.1_Missense_Mutation_p.E587Q|ACAN_ENST00000439576.2_Missense_Mutation_p.E587Q|ACAN_ENST00000352105.7_Missense_Mutation_p.E587Q|ACAN_ENST00000558207.1_Missense_Mutation_p.E587Q			P16112	PGCA_HUMAN	aggrecan	587	G2-B'.|Link 4. {ECO:0000255|PROSITE- ProRule:PRU00323}.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)	carbohydrate binding (GO:0030246)|extracellular matrix structural constituent (GO:0005201)|hyaluronic acid binding (GO:0005540)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			CACACGCCTTGAGCAGTTCAC	0.632																																						ENST00000439576.2																			0				NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93						c.(1759-1761)Gag>Cag		aggrecan							18	20	19					15																	89392695		2079	4192	6271	SO:0001583	missense	176				cell adhesion		hyaluronic acid binding|sugar binding	g.chr15:89392695G>C	M55172	CCDS53970.1, CCDS53971.1	15q26.1	2013-05-07	2007-02-16	2007-02-16	ENSG00000157766	ENSG00000157766		"Immunoglobulin superfamily / V-set domain containing", "Proteoglycans / Extracellular Matrix : Hyalectans"	319	protein-coding gene	gene with protein product	"aggrecan proteoglycan"	155760	"chondroitin sulfate proteoglycan 1", "aggrecan 1"	MSK16, CSPG1, AGC1		1985970	Standard	NM_013227		Approved	CSPGCP	uc010upo.1	P16112	OTTHUMG00000171989	ENST00000561243.1:c.1759G>C	15.37:g.89392695G>C	ENSP00000453342:p.Glu587Gln					ACAN_ENST00000559004.1_Missense_Mutation_p.E587Q|ACAN_ENST00000352105.7_Missense_Mutation_p.E587Q|ACAN_ENST00000561243.1_Missense_Mutation_p.E587Q|ACAN_ENST00000558207.1_Missense_Mutation_p.E587Q	p.E587Q	NM_013227.3	NP_037359.3	E7EX88	E7EX88_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.146)		10	2133	+	Lung NSC(78;0.0392)|all_lung(78;0.077)		587					Q13650|Q9UCD3|Q9UCP4|Q9UCP5|Q9UDE0	Missense_Mutation	SNP	ENST00000561243.1	37	c.1759G>C	CCDS53970.1	.	.	.	.	.	.	.	.	.	.	G	17.76	3.469481	0.63625	.	.	ENSG00000157766	ENST00000439576;ENST00000352105;ENST00000268134	T;T	0.08546	3.08;3.08	5.11	4.13	0.48395	.	0.000000	0.32952	N	0.005455	T	0.07773	0.0195	N	0.21545	0.675	0.40273	D	0.978317	P;P;B	0.43788	0.817;0.817;0.268	B;B;B	0.41988	0.372;0.372;0.275	T	0.28138	-1.0053	10	0.51188	T	0.08	-19.218	14.4669	0.67490	0.0:0.1476:0.8524:0.0	.	587;587;587	E7ENV9;E7EX88;Q6PID9	.;.;.	Q	587	ENSP00000387356:E587Q;ENSP00000341615:E587Q	ENSP00000268134:E587Q	E	+	1	0	ACAN	87193699	1.000000	0.71417	0.923000	0.36655	0.844000	0.47949	7.539000	0.82063	2.532000	0.85374	0.655000	0.94253	GAG		0.632	ACAN-006	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416267.2	NM_001135		4	12	0	0	0	1	0	4	12					C	89392695	G	C	89392695	3	2	343	1	0	0	0	0	1	0	0	0	117	1291	45	5	1793	5	ACAN	15	89392695	Missense_Mutation	SNP	G	TCGA-KK-A8IG-01A-11D-A364-08	4203196	89392695	13138697	35	17377											
TP53	7157	broad.mit.edu	37	chr17	7577538	7577538	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgatggtgaggatgggcctcCggttcatgccgcccatgcag	6	9	15	11	2	1	2	1	2	0	0	2	3	2	3	4	4	2	2	4	4	0	1	rs11540652		TCGA-KK-A8IG-01A-11D-A364-08	TCGA-KK-A8IG-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082edbc7-1c72-4487-8603-5f20dd332ac3	ab1b5fbe-db21-4790-94c3-f56579040952	g.chr17:7577538C>T	ENST00000269305.4	-	7	932	c.743G>A	c.(742-744)cGg>cAg	p.R248Q	TP53_ENST00000445888.2_Missense_Mutation_p.R248Q|TP53_ENST00000359597.4_Missense_Mutation_p.R248Q|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Missense_Mutation_p.R248Q|TP53_ENST00000413465.2_Missense_Mutation_p.R248Q|TP53_ENST00000420246.2_Missense_Mutation_p.R248Q	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	248	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Interacts with the 53BP2 SH3 domain.|Required for interaction with ZNF385A.		NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:7682763}.|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:2263646, ECO:0000269|PubMed:7682763, ECO:0000269|PubMed:7887414}.|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1978757, ECO:0000269|PubMed:8829627}.		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R248Q(580)|p.R248L(75)|p.R248P(19)|p.R155Q(18)|p.0?(8)|p.?(5)|p.R155L(3)|p.R155P(2)|p.N247_R248delNR(2)|p.R248fs*16(2)|p.M246_P250delMNRRP(2)|p.R248_P250delRRP(1)|p.unknown(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R249fs*96(1)|p.R248fs*>39(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GATGGGCCTCCGGTTCATGCC	0.572	R248Q(BL41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CA46_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(EM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(HCC1143_BREAST)|R248Q(HCC70_BREAST)|R248Q(HEC1A_ENDOMETRIUM)|R248Q(HS683_CENTRAL_NERVOUS_SYSTEM)|R248Q(HSC4_UPPER_AERODIGESTIVE_TRACT)|R248Q(KASUMI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYSE150_OESOPHAGUS)|R248Q(MOLM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NAMALWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NB4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NCIH211_LUNG)|R248Q(NCIN87_STOMACH)|R248Q(NIHOVCAR3_OVARY)|R248Q(NUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(P12ICHIKAWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(PANC0203_PANCREAS)|R248Q(PC14_LUNG)|R248Q(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(RT112_URINARY_TRACT)|R248Q(SEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SF295_CENTRAL_NERVOUS_SYSTEM)|R248Q(SKUT1_SOFT_TISSUE)|R248Q(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SW1463_LARGE_INTESTINE)|R248Q(WSUDLCL2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2	R248Q(BL41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CA46_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(EM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(HCC1143_BREAST)|R248Q(HCC70_BREAST)|R248Q(HEC1A_ENDOMETRIUM)|R248Q(HS683_CENTRAL_NERVOUS_SYSTEM)|R248Q(HSC4_UPPER_AERODIGESTIVE_TRACT)|R248Q(KASUMI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYSE150_OESOPHAGUS)|R248Q(MOLM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NAMALWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NB4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NCIH211_LUNG)|R248Q(NCIN87_STOMACH)|R248Q(NIHOVCAR3_OVARY)|R248Q(NUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(P12ICHIKAWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(PANC0203_PANCREAS)|R248Q(PC14_LUNG)|R248Q(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(RT112_URINARY_TRACT)|R248Q(SEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SF295_CENTRAL_NERVOUS_SYSTEM)|R248Q(SKUT1_SOFT_TISSUE)|R248Q(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SW1463_LARGE_INTESTINE)|R248Q(WSUDLCL2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"Mis, N, F"	tumor protein p53			"L, E, M, O"		"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"	"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"		725	Substitution - Missense(698)|Whole gene deletion(8)|Deletion - In frame(7)|Unknown(6)|Insertion - Frameshift(3)|Deletion - Frameshift(2)|Complex - compound substitution(1)	p.R248Q(580)|p.R248L(75)|p.R248P(19)|p.R155Q(18)|p.0?(8)|p.?(5)|p.R155L(3)|p.R155P(2)|p.N247_R248delNR(2)|p.R248fs*16(2)|p.M246_P250delMNRRP(2)|p.R248_P250delRRP(1)|p.unknown(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R249fs*96(1)|p.R248fs*>39(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(1)	large_intestine(138)|breast(83)|haematopoietic_and_lymphoid_tissue(74)|lung(71)|upper_aerodigestive_tract(63)|central_nervous_system(46)|oesophagus(37)|urinary_tract(37)|ovary(36)|stomach(35)|endometrium(23)|skin(18)|prostate(11)|bone(10)|biliary_tract(9)|liver(9)|pancreas(7)|vulva(3)|kidney(3)|cervix(3)|peritoneum(2)|thyroid(2)|soft_tissue(1)|pituitary(1)|adrenal_gland(1)|small_intestine(1)|thymus(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185	GRCh37	CM920675	TP53	M	rs11540652	c.(742-744)cGg>cAg	Other conserved DNA damage response genes	tumor protein p53		C	GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG	0,4406		0,0,2203	152	112	126	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	743,743,743,743,347,347,347	3.7	1	17	dbSNP_120	126	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense,missense,missense,missense	TP53	NM_000546.4,NM_001126112.1,NM_001126113.1,NM_001126114.1,NM_001126115.1,NM_001126116.1,NM_001126117.1	43,43,43,43,43,43,43	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	248/394,248/394,248/347,248/342,116/262,116/210,116/215	7577538	1,13005	2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577538C>T	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"Li-Fraumeni syndrome"	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.743G>A	17.37:g.7577538C>T	ENSP00000269305:p.Arg248Gln	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_ENST00000359597.4_Missense_Mutation_p.R248Q|TP53_ENST00000445888.2_Missense_Mutation_p.R248Q|TP53_ENST00000413465.2_Missense_Mutation_p.R248Q|TP53_ENST00000455263.2_Missense_Mutation_p.R248Q|TP53_ENST00000269305.4_Missense_Mutation_p.R248Q	p.R248Q	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	7	875	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	248		NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652).|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.743G>A	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	27.3	4.822907	0.90873	0.0	1.16E-4	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99864	-7.28;-7.28;-7.28;-7.28;-7.28;-7.28;-7.28;-7.28	4.62	3.65	0.41850	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99840	0.9927	M	0.88640	2.97	0.58432	A	0.999994	D;D;D;D;D;D	0.89917	1.0;0.994;1.0;1.0;1.0;1.0	D;P;D;D;D;D	0.91635	0.996;0.882;0.999;0.995;0.996;0.995	D	0.96819	0.9602	9	0.72032	D	0.01	-9.5643	10.6687	0.45745	0.0:0.9059:0.0:0.0941	rs11540652;rs11540652	248;248;155;248;248;248	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	Q	248;248;248;248;248;248;237;155;116;155	ENSP00000410739:R248Q;ENSP00000352610:R248Q;ENSP00000269305:R248Q;ENSP00000398846:R248Q;ENSP00000391127:R248Q;ENSP00000391478:R248Q;ENSP00000425104:R116Q;ENSP00000423862:R155Q	ENSP00000269305:R248Q	R	-	2	0	TP53	7518263	1.000000	0.71417	1.000000	0.80357	0.887000	0.51463	5.884000	0.69729	1.305000	0.44909	0.462000	0.41574	CGG		0.572	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		19	26	0	0	0	1	0	19	26					T	7577538	C	T	7577538	3	4	343	1	0	0	0	0	1	0	0	0	16378	652	23	2	547	2	TP53	17	7577538	Missense_Mutation	SNP	C	TCGA-KK-A8IG-01A-11D-A364-08		7577538	73617672	36	17378											
EVPLL	645027	broad.mit.edu	37	chr17	18286659	18286659	+	Frame_Shift_Del	DEL	G	G	-																															gaggacggcaagcgcatggtGgagctgcggcaccccgcggt																										TCGA-KK-A8IG-01A-11D-A364-08	TCGA-KK-A8IG-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082edbc7-1c72-4487-8603-5f20dd332ac3	ab1b5fbe-db21-4790-94c3-f56579040952	g.chr17:18286659delG	ENST00000399134.4	+	8	1105	c.747delG	c.(745-747)gtgfs	p.V249fs	RP1-37N7.1_ENST00000579352.1_RNA	NM_001145127.1	NP_001138599.1	A8MZ36	EVPLL_HUMAN	envoplakin-like	249										NS(1)|endometrium(1)|large_intestine(1)|lung(2)	5						AGCGCATGGTGGAGCTGCGGC	0.711																																						ENST00000399134.4																			0				NS(1)|endometrium(1)|large_intestine(1)|lung(2)	5						c.(745-747)gtfs		envoplakin-like							25	32	30					17																	18286659		691	1591	2282	SO:0001589	frameshift_variant	645027							g.chr17:18286659delG		CCDS45626.1	17p11.2	2009-08-25			ENSG00000214860	ENSG00000214860			35236	protein-coding gene	gene with protein product							Standard	NM_001145127		Approved		uc002gte.3	A8MZ36	OTTHUMG00000059095	ENST00000399134.4:c.747delG	17.37:g.18286659delG	ENSP00000382086:p.Val249fs					RP1-37N7.1_ENST00000579352.1_RNA	p.V249fs	NM_001145127.1	NP_001138599.1	A8MZ36	EVPLL_HUMAN			8	1105	+			249					B4DPD4	Frame_Shift_Del	DEL	ENST00000399134.4	37	c.747delG	CCDS45626.1																																																																																				0.711	EVPLL-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000130836.2	NM_001145127		2	4						2	4	---	---	---	---	-	18286659	G	-	18286659	7	5	343	1	0	1	0	1	0	0	0	0	5293	1335	47	0	773	0	EVPLL	17	18286659	Frame_Shift_Del	DEL	G	TCGA-KK-A8IG-01A-11D-A364-08	10709121	18286659	62908551	37	17379											
OTOP2	92736	broad.mit.edu	37	chr17	72926516	72926516	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	accatgctgtatgtcatgtgGaagaatgtgggtagattcct	10	13	12	6	0	1	2	1	0	0	2	2	3	2	3	2	2	1	3	2	2	4	3			TCGA-KK-A8IG-01A-11D-A364-08	TCGA-KK-A8IG-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082edbc7-1c72-4487-8603-5f20dd332ac3	ab1b5fbe-db21-4790-94c3-f56579040952	g.chr17:72926516G>A	ENST00000580223.1	+	5	816	c.786G>A	c.(784-786)tgG>tgA	p.W262*	OTOP2_ENST00000331427.4_Nonsense_Mutation_p.W262*			Q7RTS6	OTOP2_HUMAN	otopetrin 2	262						integral component of membrane (GO:0016021)				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|ovary(3)|prostate(4)|skin(1)|urinary_tract(2)	39	all_lung(278;0.172)|Lung NSC(278;0.207)					ATGTCATGTGGAAGAATGTGG	0.577																																						ENST00000331427.4																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|ovary(3)|prostate(4)|skin(1)|urinary_tract(2)	39						c.(784-786)tgG>tgA		otopetrin 2							194	176	182					17																	72926516		2203	4300	6503	SO:0001587	stop_gained	92736					integral to membrane		g.chr17:72926516G>A	BK000567	CCDS11708.1	17q25.3	2006-09-20				ENSG00000183034			19657	protein-coding gene	gene with protein product		607827				12651873	Standard	NM_178160		Approved		uc010wrp.2	Q7RTS6		ENST00000580223.1:c.786G>A	17.37:g.72926516G>A	ENSP00000463837:p.Trp262*					OTOP2_ENST00000580223.1_Nonsense_Mutation_p.W262*	p.W262*	NM_178160.2	NP_835454.1	Q7RTS6	OTOP2_HUMAN			6	878	+	all_lung(278;0.172)|Lung NSC(278;0.207)		262						Nonsense_Mutation	SNP	ENST00000580223.1	37	c.786G>A	CCDS11708.1	.	.	.	.	.	.	.	.	.	.	G	35	5.474545	0.96291	.	.	ENSG00000183034	ENST00000331427	.	.	.	5.31	5.31	0.75309	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-10.3825	19.0323	0.92961	0.0:0.0:1.0:0.0	.	.	.	.	X	262	.	ENSP00000332528:W262X	W	+	3	0	OTOP2	70438111	1.000000	0.71417	1.000000	0.80357	0.804000	0.45430	9.869000	0.99810	2.499000	0.84300	0.558000	0.71614	TGG		0.577	OTOP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445306.1	NM_178160		121	123	0	0	0	1	0	121	123					A	72926516	G	A	72926516	4	1	343	1	0	0	0	0	0	1	0	0	11306	1183	41	3	804	3	OTOP2	17	72926516	Nonsense_Mutation	SNP	G	TCGA-KK-A8IG-01A-11D-A364-08	54639857	72926516	8268694	38	17380											
MUC16	94025	broad.mit.edu	37	chr19	9089955	9089955	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	agtaggtgggttgtgccctgGcttcccctggtgctgctgcc	2	12	15	12	0	0	0	0	0	0	0	1	0	1	0	4	4	4	5	4	4	1	3	rs200371754		TCGA-KK-A8IG-01A-11D-A364-08	TCGA-KK-A8IG-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082edbc7-1c72-4487-8603-5f20dd332ac3	ab1b5fbe-db21-4790-94c3-f56579040952	g.chr19:9089955G>A	ENST00000397910.4	-	1	2063	c.1860C>T	c.(1858-1860)agC>agT	p.S620S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	620	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TTGTGCCCTGGCTTCCCCTGG	0.572																																						ENST00000397910.4																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(1858-1860)agC>agT		mucin 16, cell surface associated							85	89	88					19																	9089955		2195	4292	6487	SO:0001819	synonymous_variant	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9089955G>A	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.1860C>T	19.37:g.9089955G>A							p.S620S	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			1	2063	-			620			Thr-rich.		Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	c.1860C>T	CCDS54212.1																																																																																				0.572	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		4	48	0	0	0	1	0	4	48					A	9089955	G	A	9089955	2	1	343	1	0	0	0	0	0	0	0	1	9973	1194	42	3		3	MUC16	19	9089955	Silent	SNP	G	TCGA-KK-A8IG-01A-11D-A364-08		9089955	50039028	39	17381											
ZNF793	390927	broad.mit.edu	37	chr19	38023375	38023375	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggaaacctatagcaacctcGtctcagtgggtaagaacatc	13	9	9	10	1	1	1	1	0	1	1	4	2	1	2	2	2	4	2	2	2	6	3	rs200037315		TCGA-KK-A8IG-01A-11D-A364-08	TCGA-KK-A8IG-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082edbc7-1c72-4487-8603-5f20dd332ac3	ab1b5fbe-db21-4790-94c3-f56579040952	g.chr19:38023375G>A	ENST00000587143.1	+	4	368	c.133G>A	c.(133-135)Gtc>Atc	p.V45I	ZNF793_ENST00000589319.1_Missense_Mutation_p.V45I|ZNF793_ENST00000445217.1_Missense_Mutation_p.V45I|ZNF793_ENST00000587986.1_Missense_Mutation_p.V45I|ZNF793_ENST00000588578.1_Missense_Mutation_p.V45I|ZNF793_ENST00000542455.1_Missense_Mutation_p.V45I			Q6ZN11	ZN793_HUMAN	zinc finger protein 793	45	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.			V -> A (in Ref. 1; BAD18564). {ECO:0000305}.	regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			kidney(2)|lung(1)	3			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TAGCAACCTCGTCTCAGTGGG	0.507																																					Melanoma(44;400 1431 1499 19093)	ENST00000445217.1																			0				kidney(2)|lung(1)	3						c.(133-135)Gtc>Atc		zinc finger protein 793		G	ILE/VAL	7,4381	12.9+/-30.5	0,7,2187	64	67	66		133	2.2	1	19		66	0,8596		0,0,4298	yes	missense	ZNF793	NM_001013659.2	29	0,7,6485	AA,AG,GG		0.0,0.1595,0.0539	possibly-damaging	45/407	38023375	7,12977	2194	4298	6492	SO:0001583	missense	390927				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:38023375G>A	AK131417	CCDS46062.1	19q13.12	2013-01-08				ENSG00000188227		"Zinc fingers, C2H2-type", "-"	33115	protein-coding gene	gene with protein product							Standard	NM_001013659		Approved		uc010efm.3	Q6ZN11		ENST00000587143.1:c.133G>A	19.37:g.38023375G>A	ENSP00000468605:p.Val45Ile					ZNF793_ENST00000588578.1_Missense_Mutation_p.V45I|ZNF793_ENST00000587986.1_Missense_Mutation_p.V45I|ZNF793_ENST00000587143.1_Missense_Mutation_p.V45I|ZNF793_ENST00000542455.1_Missense_Mutation_p.V45I|ZNF793_ENST00000589319.1_Missense_Mutation_p.V45I	p.V45I			Q6ZN11	ZN793_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		2	168	+			45			KRAB.		E9PGN4|Q7Z3Q9	Missense_Mutation	SNP	ENST00000587143.1	37	c.133G>A	CCDS46062.1	.	.	.	.	.	.	.	.	.	.	G	13.87	2.364773	0.41902	0.001595	0.0	ENSG00000188227	ENST00000542455;ENST00000418827;ENST00000445217;ENST00000322299	T;T	0.02197	4.4;4.4	3.29	2.23	0.28157	.	.	.	.	.	T	0.01353	0.0044	N	0.04746	-0.17	0.21861	N	0.999508	B	0.23990	0.095	B	0.17979	0.02	T	0.48163	-0.9059	9	0.45353	T	0.12	.	6.3775	0.21515	0.1424:0.0:0.8576:0.0	.	45	E9PGN4	.	I	45;45;45;44	ENSP00000444355:V45I;ENSP00000396402:V45I	ENSP00000318811:V44I	V	+	1	0	ZNF793	42715215	0.501000	0.26099	0.994000	0.49952	0.966000	0.64601	0.895000	0.28363	0.696000	0.31696	0.563000	0.77884	GTC		0.507	ZNF793-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458621.1	NM_001013659		15	28	0	0	0	1	0	15	28					A	38023375	G	A	38023375	3	1	343	1	0	0	0	0	1	0	0	0	18162	1145	40	1	139	1	ZNF793	19	38023375	Missense_Mutation	SNP	G	TCGA-KK-A8IG-01A-11D-A364-08	28933420	38023375	21105608	40	17382											
NCCRP1	342897	broad.mit.edu	37	chr19	39691043	39691043	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgcatgtctggctgctggcGgccgaccgccgcacggtcat	4	8	14	15	5	2	0	1	0	1	0	2	1	2	0	3	4	2	4	3	4	0	0			TCGA-KK-A8IG-01A-11D-A364-08	TCGA-KK-A8IG-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082edbc7-1c72-4487-8603-5f20dd332ac3	ab1b5fbe-db21-4790-94c3-f56579040952	g.chr19:39691043G>A	ENST00000339852.4	+	5	628	c.606G>A	c.(604-606)gcG>gcA	p.A202A		NM_001001414.1	NP_001001414.1	Q6ZVX7	FBX50_HUMAN	non-specific cytotoxic cell receptor protein 1 homolog (zebrafish)	202	FBA. {ECO:0000255|PROSITE- ProRule:PRU00482}.				positive regulation of cell proliferation (GO:0008284)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)				kidney(1)|large_intestine(2)|liver(1)|lung(4)|ovary(1)|urinary_tract(1)	10						GGCTGCTGGCGGCCGACCGCC	0.672																																					Melanoma(107;1207 1556 14956 29427 52130)	ENST00000339852.4																			0				kidney(1)|large_intestine(2)|liver(1)|lung(4)|ovary(1)|urinary_tract(1)	10						c.(604-606)gcG>gcA		non-specific cytotoxic cell receptor protein 1 homolog (zebrafish)							66	76	73					19																	39691043		2203	4300	6503	SO:0001819	synonymous_variant	342897				protein catabolic process			g.chr19:39691043G>A	AK123941, BC067874	CCDS12529.1	19q13.2	2013-07-31	2008-11-19		ENSG00000188505	ENSG00000188505			33739	protein-coding gene	gene with protein product		615901					Standard	NM_001001414		Approved	LOC342897, NCCRP-1, FBXO50	uc002okq.1	Q6ZVX7		ENST00000339852.4:c.606G>A	19.37:g.39691043G>A							p.A202A	NM_001001414.1	NP_001001414.1	Q6ZVX7	NCRP1_HUMAN			5	628	+			202			FBA.		Q6NVV5	Silent	SNP	ENST00000339852.4	37	c.606G>A	CCDS12529.1																																																																																				0.672	NCCRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463829.1	NM_001001414		10	136	0	0	0	1	0	10	136					A	39691043	G	A	39691043	2	1	343	1	0	0	0	0	0	0	0	1	10213	1103	39	2		2	NCCRP1	19	39691043	Silent	SNP	G	TCGA-KK-A8IG-01A-11D-A364-08	1667668	39691043	19437940	41	17383											
TOP1	7150	broad.mit.edu	37	chr20	39725936	39725936	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atgctcgaccatgaatatacTaccaaggaaatatttaggaa	17	10	7	7	1	0	1	0	1	0	0	1	4	0	3	2	2	3	1	2	2	9	6	rs374999084		TCGA-KK-A8IG-01A-11D-A364-08	TCGA-KK-A8IG-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082edbc7-1c72-4487-8603-5f20dd332ac3	ab1b5fbe-db21-4790-94c3-f56579040952	g.chr20:39725936T>C	ENST00000361337.2	+	10	1057	c.807T>C	c.(805-807)acT>acC	p.T269T	RP1-1J6.2_ENST00000454626.1_RNA	NM_003286.2	NP_003277.1	P11387	TOP1_HUMAN	topoisomerase (DNA) I	269					chromatin remodeling (GO:0006338)|chromosome segregation (GO:0007059)|DNA replication (GO:0006260)|DNA topological change (GO:0006265)|embryonic cleavage (GO:0040016)|phosphorylation (GO:0016310)|programmed cell death (GO:0012501)|response to drug (GO:0042493)|viral process (GO:0016032)	cytoplasmic mRNA processing body (GO:0000932)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perikaryon (GO:0043204)|replication fork protection complex (GO:0031298)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA topoisomerase type I activity (GO:0003917)|DNA topoisomerase type II (ATP-hydrolyzing) activity (GO:0003918)|poly(A) RNA binding (GO:0044822)			breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	37		Myeloproliferative disorder(115;0.00878)			Irinotecan(DB00762)|Lucanthone(DB04967)|Sodium stibogluconate(DB05630)|Topotecan(DB01030)	ATGAATATACTACCAAGGAAA	0.368			T	NUP98	AML*																																	ENST00000361337.2				Dom	yes		20	20q12-q13.1	7150	T	topoisomerase (DNA) I			L	NUP98		AML*		0				breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	37						c.(805-807)acT>acC		topoisomerase (DNA) I	Irinotecan(DB00762)|Lucanthone(DB04967)|Topotecan(DB01030)						75	80	78					20																	39725936		2203	4300	6503	SO:0001819	synonymous_variant	7150				DNA topological change|interspecies interaction between organisms|phosphorylation|programmed cell death|response to drug	chromosome|nucleolus|nucleoplasm	ATP binding|chromatin DNA binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA topoisomerase type I activity|protein binding	g.chr20:39725936T>C		CCDS13312.1	20q12-q13.1	1990-06-22			ENSG00000198900	ENSG00000198900	5.99.1.2		11986	protein-coding gene	gene with protein product		126420					Standard	NM_003286		Approved		uc010ggd.1	P11387	OTTHUMG00000033057	ENST00000361337.2:c.807T>C	20.37:g.39725936T>C							p.T269T	NM_003286.2	NP_003277.1	P11387	TOP1_HUMAN			10	1057	+		Myeloproliferative disorder(115;0.00878)	269					A8KA78|E1P5W3|O43256|Q12855|Q12856|Q15610|Q5TFY3|Q9UJN0	Silent	SNP	ENST00000361337.2	37	c.807T>C	CCDS13312.1																																																																																				0.368	TOP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080397.2			28	62	0	0	0	1	0	28	62					C	39725936	T	C	39725936	2	2	343	1	0	0	0	0	0	0	0	1	16360	1509	53	4		4	TOP1	20	39725936	Silent	SNP	T	TCGA-KK-A8IG-01A-11D-A364-08		39725936	23299584	42	17384											
ZBED1	9189	broad.mit.edu	37	chrX	2407293	2407293	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcgattctccacctgctgccGctcgaaggcggagaggaagg	8	6	15	12	4	1	1	0	0	1	1	3	5	1	2	3	4	2	2	3	4	2	1			TCGA-KK-A8IG-01A-11D-A364-08	TCGA-KK-A8IG-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082edbc7-1c72-4487-8603-5f20dd332ac3	ab1b5fbe-db21-4790-94c3-f56579040952	g.chrX:2407293G>A	ENST00000381223.4	-	2	1671	c.1468C>T	c.(1468-1470)Cgg>Tgg	p.R490W	ZBED1_ENST00000381222.2_Missense_Mutation_p.R490W|DHRSX_ENST00000334651.5_Intron|ZBED1_ENST00000381218.3_Missense_Mutation_p.R490W|ZBED1_ENST00000515319.1_5'Flank	NM_001171135.1|NM_001171136.1|NM_004729.3	NP_001164606.1|NP_001164607.1|NP_004720.1	O96006	ZBED1_HUMAN	zinc finger, BED-type containing 1	490					metabolic process (GO:0008152)	nuclear chromosome (GO:0000228)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|transposase activity (GO:0004803)			endometrium(8)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	25		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				ACCTGCTGCCGCTCGAAGGCG	0.627																																						ENST00000381223.4																			0				endometrium(8)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	25						c.(1468-1470)Cgg>Tgg		zinc finger, BED-type containing 1							87	93	91					X																	2407293		2203	4296	6499	SO:0001583	missense	9189					nuclear chromosome	DNA binding|metal ion binding|protein dimerization activity|transposase activity	g.chrX:2407293G>A	AB018328	CCDS14118.1	Xp22.33 and Yp11	2013-05-03	2004-01-14	2004-01-16	ENSG00000214717	ENSG00000214717		"Pseudoautosomal regions / PAR1", "Zinc fingers, BED-type"	447	protein-coding gene	gene with protein product		300178	"Ac-like transposable element"	ALTE		9872452, 9887332, 23533661	Standard	NM_001171135		Approved	TRAMP, KIAA0785, DREF, hDREF	uc004cqh.2	O96006	OTTHUMG00000021069	ENST00000381223.4:c.1468C>T	X.37:g.2407293G>A	ENSP00000370621:p.Arg490Trp					DHRSX_ENST00000334651.5_Intron|ZBED1_ENST00000381222.2_Missense_Mutation_p.R490W|ZBED1_ENST00000381218.3_Missense_Mutation_p.R490W	p.R490W	NM_001171135.1|NM_001171136.1|NM_004729.3	NP_001164606.1|NP_001164607.1|NP_004720.1	O96006	ZBED1_HUMAN			2	1671	-		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)	490					Q96BY4	Missense_Mutation	SNP	ENST00000381223.4	37	c.1468C>T	CCDS14118.1	.	.	.	.	.	.	.	.	.	.	G	13.22	2.172406	0.38315	.	.	ENSG00000214717	ENST00000381223;ENST00000381222;ENST00000381218	T;T;T	0.23348	1.91;1.91;1.91	3.06	-0.273	0.12915	Ribonuclease H-like (1);	0.241577	0.26058	N	0.026588	T	0.42177	0.1191	.	.	.	0.09310	N	1	D	0.89917	1.0	D	0.68483	0.958	T	0.34875	-0.9811	9	0.37606	T	0.19	-36.5724	11.4375	0.50076	0.0:0.0:0.391:0.609	.	490	O96006	ZBED1_HUMAN	W	490	ENSP00000370621:R490W;ENSP00000370620:R490W;ENSP00000370616:R490W	ENSP00000370616:R490W	R	-	1	2	ZBED1	2417293	0.856000	0.29760	0.101000	0.21167	0.711000	0.40976	0.320000	0.19540	-0.747000	0.04759	-0.371000	0.07208	CGG		0.627	ZBED1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000144310.3	NM_004729		5	87	0	0	0	1	0	5	87					A	2407293	G	A	2407293	3	1	343	1	0	0	0	0	1	0	0	0	17514	1086	38	1	620	1	ZBED1	23	2407293	Missense_Mutation	SNP	G	TCGA-KK-A8IG-01A-11D-A364-08		2407293	152863267	43	17385											
ZNF185	7739	broad.mit.edu	37	chrX	152087570	152087572	+	In_Frame_Del	DEL	GAG	GAG	-																															gctctacatcaggggacaccGaggaggaggaggaggaggag																										TCGA-KK-A8IG-01A-11D-A364-08	TCGA-KK-A8IG-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082edbc7-1c72-4487-8603-5f20dd332ac3	ab1b5fbe-db21-4790-94c3-f56579040952	g.chrX:152087570_152087572delGAG	ENST00000370268.4	+	7	512_514	c.475_477delGAG	c.(475-477)gagdel	p.E165del	ZNF185_ENST00000449285.2_In_Frame_Del_p.E165del|ZNF185_ENST00000324823.6_In_Frame_Del_p.E30del|ZNF185_ENST00000539731.1_In_Frame_Del_p.E165del|ZNF185_ENST00000318504.7_In_Frame_Del_p.E165del|ZNF185_ENST00000318529.8_In_Frame_Del_p.E30del|ZNF185_ENST00000535861.1_In_Frame_Del_p.E165del|ZNF185_ENST00000370270.2_In_Frame_Del_p.E165del			O15231	ZN185_HUMAN	zinc finger protein 185 (LIM domain)	165	Poly-Glu.					actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)	zinc ion binding (GO:0008270)			NS(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(3)	12	Acute lymphoblastic leukemia(192;6.56e-05)					AGGGGACACCgaggaggaggagg	0.596																																						ENST00000535861.1																			0				NS(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(3)	12						c.(475-477)del		zinc finger protein 185 (LIM domain)			,,,,,,	160,3115		6,91,57,1273,478					,,,,,,	-7	0			54	367,5848		0,178,189,2088,1494	no	coding,coding,coding,coding,coding,coding,coding	ZNF185	NM_007150.3,NM_001178113.1,NM_001178110.1,NM_001178109.1,NM_001178108.1,NM_001178107.1,NM_001178106.1	,,,,,,	6,269,246,3361,1972	A1A1,A1R,A1,RR,R		5.9051,4.8855,5.5532	,,,,,,	,,,,,,		527,8963				SO:0001651	inframe_deletion	7739					cytoplasm|cytoskeleton|focal adhesion	zinc ion binding	g.chrX:152087570_152087572delGAG	AK056517	CCDS48184.1, CCDS55528.1, CCDS55529.1, CCDS55530.1, CCDS55531.1, CCDS55532.1, CCDS69832.1	Xq28	2012-08-08			ENSG00000147394	ENSG00000147394		"Zinc fingers, C2H2-type"	12976	protein-coding gene	gene with protein product		300381				9268636	Standard	NM_001178106		Approved		uc011myg.2	O15231	OTTHUMG00000024187	ENST00000370268.4:c.475_477delGAG	X.37:g.152087579_152087581delGAG	ENSP00000359291:p.Glu165del					ZNF185_ENST00000318504.7_In_Frame_Del_p.E165del|ZNF185_ENST00000324823.6_In_Frame_Del_p.E30del|ZNF185_ENST00000370268.4_In_Frame_Del_p.E165del|ZNF185_ENST00000370270.1_In_Frame_Del_p.E25del|ZNF185_ENST00000539731.1_In_Frame_Del_p.E165del|ZNF185_ENST00000318529.8_In_Frame_Del_p.E30del|ZNF185_ENST00000449285.2_In_Frame_Del_p.E165del	p.E165del	NM_001178106.1	NP_001171577.1	O15231	ZN185_HUMAN			7	523_525	+	Acute lymphoblastic leukemia(192;6.56e-05)		165			Poly-Glu.		A4FTV3|A6NME5|B4DLE9|B7Z771|B8K2L9|B8K2M0|B8K2M1|B8K2M2|E9PFR6|F5GXF7|F5GZL4|F8W8V7|H0Y4M8|O00345|Q8N1R8|Q9NSD2	In_Frame_Del	DEL	ENST00000370268.4	37	c.475_477delGAG	CCDS48184.1																																																																																				0.596	ZNF185-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000377480.1	NM_007150		4	6						4	6	---	---	---	---	-	152087572	GAG	-	152087570	7	5	343	1	0	1	0	1	0	0	0	0	17749	1059	37	0	516	0	ZNF185	23	152087570	In_Frame_Del	DEL	GAG	TCGA-KK-A8IG-01A-11D-A364-08	149680277	152087570	3182990	44	17386											
HMGCL	3155	broad.mit.edu	37	chr1	24130988	24130988	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acagcctccaagtcctgccaCagaagagtccacgacactca	13	5	7	16	1	1	2	1	0	0	2	4	3	4	2	5	0	2	0	5	0	2	0			TCGA-KK-A8IH-01A-11D-A364-08	TCGA-KK-A8IH-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1652a02-f1e2-4504-bc26-0bc6d272c104	9aec7505-e824-49cf-a520-b4d090863d67	g.chr1:24130988C>T	ENST00000374490.3	-	8	821	c.778G>A	c.(778-780)Gtg>Atg	p.V260M	HMGCL_ENST00000436439.2_Missense_Mutation_p.V189M|HMGCL_ENST00000374483.4_Missense_Mutation_p.V235M|HMGCL_ENST00000509389.1_5'UTR	NM_000191.2	NP_000182.2	P35914	HMGCL_HUMAN	3-hydroxymethyl-3-methylglutaryl-CoA lyase	260					acyl-CoA metabolic process (GO:0006637)|cellular ketone body metabolic process (GO:0046950)|cellular lipid metabolic process (GO:0044255)|ketone body biosynthetic process (GO:0046951)|leucine catabolic process (GO:0006552)|liver development (GO:0001889)|mitochondrion organization (GO:0007005)|protein tetramerization (GO:0051262)|response to fatty acid (GO:0070542)|response to nutrient (GO:0007584)|response to starvation (GO:0042594)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|peroxisome (GO:0005777)	carboxylic acid binding (GO:0031406)|fatty-acyl-CoA binding (GO:0000062)|hydroxymethylglutaryl-CoA lyase activity (GO:0004419)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	12		Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Ovarian(437;0.00348)|Breast(348;0.0044)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.38e-24)|Colorectal(126;5.58e-08)|COAD - Colon adenocarcinoma(152;3.12e-06)|GBM - Glioblastoma multiforme(114;4.9e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000982)|KIRC - Kidney renal clear cell carcinoma(1967;0.0034)|STAD - Stomach adenocarcinoma(196;0.0128)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0856)|LUSC - Lung squamous cell carcinoma(448;0.188)		AGTCCTGCCACAGAAGAGTCC	0.537																																						ENST00000374483.4																			0				central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	12						c.(703-705)Gtg>Atg		3-hydroxymethyl-3-methylglutaryl-CoA lyase							108	82	91					1																	24130988		2203	4300	6503	SO:0001583	missense	3155				acetoacetic acid biosynthetic process|ketone body biosynthetic process	mitochondrial matrix	hydroxymethylglutaryl-CoA lyase activity|metal ion binding	g.chr1:24130988C>T	BC010570	CCDS243.1, CCDS53279.1	1p36.1-p35	2010-04-30	2010-04-30		ENSG00000117305	ENSG00000117305	4.1.3.4		5005	protein-coding gene	gene with protein product	"hydroxymethylglutaricaciduria"	613898	"3-hydroxymethyl-3-methylglutaryl-Coenzyme A lyase"			8102917, 8978493	Standard	NM_001166059		Approved	HL	uc001bib.3	P35914	OTTHUMG00000002963	ENST00000374490.3:c.778G>A	1.37:g.24130988C>T	ENSP00000363614:p.Val260Met					HMGCL_ENST00000509389.1_5'UTR|HMGCL_ENST00000436439.2_Missense_Mutation_p.V189M|HMGCL_ENST00000374490.3_Missense_Mutation_p.V260M	p.V235M			P35914	HMGCL_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.38e-24)|Colorectal(126;5.58e-08)|COAD - Colon adenocarcinoma(152;3.12e-06)|GBM - Glioblastoma multiforme(114;4.9e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000982)|KIRC - Kidney renal clear cell carcinoma(1967;0.0034)|STAD - Stomach adenocarcinoma(196;0.0128)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0856)|LUSC - Lung squamous cell carcinoma(448;0.188)	9	1374	-		Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Ovarian(437;0.00348)|Breast(348;0.0044)|Myeloproliferative disorder(586;0.0255)	260					B4DUP4|B7UCC6|D3Y5K7|Q6IBC0|Q96FP8	Missense_Mutation	SNP	ENST00000374490.3	37	c.703G>A	CCDS243.1	.	.	.	.	.	.	.	.	.	.	C	31	5.099963	0.94197	.	.	ENSG00000117305	ENST00000374490;ENST00000436439;ENST00000374483;ENST00000543166	D;D;D	0.98901	-5.22;-5.22;-5.22	5.27	5.27	0.74061	Aldolase-type TIM barrel (1);Pyruvate carboxyltransferase (2);	0.057170	0.64402	N	0.000001	D	0.99236	0.9734	M	0.87971	2.92	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.994;0.999;0.994	D	0.99470	1.0945	10	0.87932	D	0	-15.0396	18.4821	0.90815	0.0:1.0:0.0:0.0	.	189;260;130;260	B4DUP4;Q6IBC0;B7UCC6;P35914	.;.;.;HMGCL_HUMAN	M	260;189;235;101	ENSP00000363614:V260M;ENSP00000389281:V189M;ENSP00000363607:V235M	ENSP00000363607:V235M	V	-	1	0	HMGCL	24003575	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	7.729000	0.84864	2.482000	0.83794	0.549000	0.68633	GTG		0.537	HMGCL-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008253.2	NM_000191		15	44	0	0	0	1	0	15	44					T	24130988	C	T	24130988	3	4	344	1	0	0	0	0	1	0	0	0	7229	478	17	3	207	3	HMGCL	1	24130988	Missense_Mutation	SNP	C	TCGA-KK-A8IH-01A-11D-A364-08		24130988	225119633	1	17387											
AGL	178	broad.mit.edu	37	chr1	100380996	100380997	+	Frame_Shift_Ins	INS	-	-	A																															gaaagctttggagattgcagINSaaaaaaaattgcttggtccc																								rs28730708		TCGA-KK-A8IH-01A-11D-A364-08	TCGA-KK-A8IH-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1652a02-f1e2-4504-bc26-0bc6d272c104	9aec7505-e824-49cf-a520-b4d090863d67	g.chr1:100380996_100380997insA	ENST00000294724.4	+	31	4691_4692	c.4213_4214insA	c.(4213-4215)gaafs	p.E1405fs	AGL_ENST00000370165.3_Frame_Shift_Ins_p.E1405fs|AGL_ENST00000361915.3_Frame_Shift_Ins_p.E1405fs|AGL_ENST00000370163.3_Frame_Shift_Ins_p.E1405fs|AGL_ENST00000361302.3_Frame_Shift_Ins_p.E1389fs|AGL_ENST00000370161.2_Frame_Shift_Ins_p.E1389fs|AGL_ENST00000361522.4_Frame_Shift_Ins_p.E1388fs	NM_000028.2	NP_000019.2	P35573	GDE_HUMAN	amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase	1405					carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|glycogen catabolic process (GO:0005980)|response to glucocorticoid (GO:0051384)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|inclusion body (GO:0016234)|isoamylase complex (GO:0043033)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)	4-alpha-glucanotransferase activity (GO:0004134)|amylo-alpha-1,6-glucosidase activity (GO:0004135)|glycogen debranching enzyme activity (GO:0004133)|polysaccharide binding (GO:0030247)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(9)|lung(35)|ovary(1)|prostate(4)|skin(3)|urinary_tract(1)	69		all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131)		Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237)		GGAGATTGCAGAAAAAAAATTG	0.327																																						ENST00000294724.4																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(9)|lung(35)|ovary(1)|prostate(4)|skin(3)|urinary_tract(1)	69						c.(4213-4215)aaafs		amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase																																				SO:0001589	frameshift_variant	178				glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol|isoamylase complex|nucleus	4-alpha-glucanotransferase activity|amylo-alpha-1,6-glucosidase activity|cation binding	g.chr1:100380996_100380997insA	BC078663	CCDS759.1, CCDS760.1, CCDS761.1	1p21	2010-04-27	2010-04-27		ENSG00000162688	ENSG00000162688	2.4.1.25, 3.2.1.33		321	protein-coding gene	gene with protein product	"glycogen debranching enzyme", "glycogen storage disease type III"	610860	"amylo-1, 6-glucosidase, 4-alpha-glucanotransferase"			1505983	Standard	NM_000028		Approved		uc001dsi.1	P35573	OTTHUMG00000010803	ENST00000294724.4:c.4221dupA	1.37:g.100381004_100381004dupA	ENSP00000294724:p.Glu1405fs					AGL_ENST00000370165.3_Frame_Shift_Ins_p.K1405fs|AGL_ENST00000361915.3_Frame_Shift_Ins_p.K1405fs|AGL_ENST00000361522.4_Frame_Shift_Ins_p.K1388fs|AGL_ENST00000370163.3_Frame_Shift_Ins_p.K1405fs|AGL_ENST00000361302.3_Frame_Shift_Ins_p.K1389fs|AGL_ENST00000370161.2_Frame_Shift_Ins_p.K1389fs	p.K1405fs	NM_000028.2	NP_000019.2	P35573	GDE_HUMAN		Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237)	31	4691_4692	+		all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131)	1405					A6NCX7|A6NEK2|D3DT51|P78354|P78544|Q59H92|Q6AZ90|Q9UF08	Frame_Shift_Ins	INS	ENST00000294724.4	37	c.4213_4214insA	CCDS759.1																																																																																				0.327	AGL-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029778.1	NM_000028		15	76						15	76	---	---	---	---	A	100380997	-	A	100380996	7	5	344	1	0	1	1	0	0	0	0	0	384	943	33	0	4400	0	AGL	1	100380996	Frame_Shift_Ins	INS	-	TCGA-KK-A8IH-01A-11D-A364-08	76250008	100380996	148869625	2	17388											
LCE2D	353141	broad.mit.edu	37	chr1	152636849	152636849	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggcgccggcaccagagccccGattgctgtgagagtgaacct	8	6	14	13	3	0	3	0	2	0	2	0	5	0	3	5	2	3	2	5	2	1	1			TCGA-KK-A8IH-01A-11D-A364-08	TCGA-KK-A8IH-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1652a02-f1e2-4504-bc26-0bc6d272c104	9aec7505-e824-49cf-a520-b4d090863d67	g.chr1:152636849G>A	ENST00000368784.1	+	2	323	c.268G>A	c.(268-270)Gat>Aat	p.D90N		NM_178430.2	NP_848517.1	Q5TA82	LCE2D_HUMAN	late cornified envelope 2D	90	Cys-rich.				keratinization (GO:0031424)					large_intestine(1)|lung(7)|prostate(2)	10	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCAGAGCCCCGATTGCTGTGA	0.667																																						ENST00000368784.1																			0				large_intestine(1)|lung(7)|prostate(2)	10						c.(268-270)Gat>Aat		late cornified envelope 2D							43	55	51					1																	152636849		2196	4291	6487	SO:0001583	missense	353141				keratinization			g.chr1:152636849G>A	BI670513	CCDS1018.1	1q21.3	2008-02-05	2004-10-11	2004-10-15	ENSG00000187223	ENSG00000187223		"Late cornified envelopes"	16518	protein-coding gene	gene with protein product		612612	"small proline rich-like (epidermal differentiation complex) 1A"	SPRL1A		11698679	Standard	NM_178430		Approved	LEP12	uc001fag.4	Q5TA82	OTTHUMG00000014400	ENST00000368784.1:c.268G>A	1.37:g.152636849G>A	ENSP00000357773:p.Asp90Asn						p.D90N	NM_178430.2	NP_848517.1	Q5TA82	LCE2D_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	323	+	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		90			Cys-rich.		A1L4M8	Missense_Mutation	SNP	ENST00000368784.1	37	c.268G>A	CCDS1018.1	.	.	.	.	.	.	.	.	.	.	g	8.739	0.918520	0.17982	.	.	ENSG00000187223	ENST00000368784	T	0.03580	3.88	2.75	2.75	0.32379	.	.	.	.	.	T	0.00754	0.0025	N	0.16130	0.375	0.09310	N	1	P	0.40197	0.706	B	0.24701	0.055	T	0.49826	-0.8898	9	0.87932	D	0	.	8.728	0.34480	0.0:0.0:1.0:0.0	.	90	Q5TA82	LCE2D_HUMAN	N	90	ENSP00000357773:D90N	ENSP00000357773:D90N	D	+	1	0	LCE2D	150903473	0.003000	0.15002	0.002000	0.10522	0.025000	0.11179	1.213000	0.32407	1.356000	0.45884	0.305000	0.20034	GAT		0.667	LCE2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040058.1	NM_178430		4	88	0	0	0	1	0	4	88					A	152636849	G	A	152636849	3	1	344	1	0	0	0	0	1	0	0	0	8668	1058	37	2	270	2	LCE2D	1	152636849	Missense_Mutation	SNP	G	TCGA-KK-A8IH-01A-11D-A364-08	52255853	152636849	96613772	3	17389											
KCNK2	3776	broad.mit.edu	37	chr1	215408426	215408426	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaagactgagagtatctatCtgaatggtttgacgccacac	12	11	10	8	1	2	5	0	4	2	2	2	6	2	5	1	1	0	2	1	1	4	3			TCGA-KK-A8IH-01A-11D-A364-08	TCGA-KK-A8IH-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1652a02-f1e2-4504-bc26-0bc6d272c104	9aec7505-e824-49cf-a520-b4d090863d67	g.chr1:215408426C>A	ENST00000444842.2	+	7	1369	c.1219C>A	c.(1219-1221)Ctg>Atg	p.L407M	KCNK2_ENST00000391895.2_Missense_Mutation_p.L403M|KCNK2_ENST00000391894.2_Missense_Mutation_p.L392M	NM_001017425.2|NM_014217.3	NP_001017425.2|NP_055032.1	O95069	KCNK2_HUMAN	potassium channel, subfamily K, member 2	407	Essential for chloroform and halothane sensitivity. {ECO:0000250}.|Required for basal channel activity. {ECO:0000250}.				G-protein coupled receptor signaling pathway (GO:0007186)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	endoplasmic reticulum (GO:0005783)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	outward rectifier potassium channel activity (GO:0015271)|potassium channel inhibitor activity (GO:0019870)|potassium ion leak channel activity (GO:0022841)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|upper_aerodigestive_tract(1)	30				OV - Ovarian serous cystadenocarcinoma(81;0.0399)|all cancers(67;0.0556)|GBM - Glioblastoma multiforme(131;0.068)	Dofetilide(DB00204)|Dronedarone(DB04855)	GAGTATCTATCTGAATGGTTT	0.478																																						ENST00000444842.2																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|upper_aerodigestive_tract(1)	30						c.(1219-1221)Ctg>Atg		potassium channel, subfamily K, member 2	Dofetilide(DB00204)						142	139	140					1																	215408426		2203	4300	6503	SO:0001583	missense	3776						outward rectifier potassium channel activity	g.chr1:215408426C>A	AF004711	CCDS31024.1, CCDS41466.1, CCDS41467.1	1q41	2012-03-07			ENSG00000082482	ENSG00000082482		"Potassium channels", "Voltage-gated ion channels / Potassium channels, Two-P"	6277	protein-coding gene	gene with protein product		603219				9721223, 16382106	Standard	NM_001017424		Approved	K2p2.1, TREK-1	uc001hkr.4	O95069	OTTHUMG00000037017	ENST00000444842.2:c.1219C>A	1.37:g.215408426C>A	ENSP00000394033:p.Leu407Met					KCNK2_ENST00000391895.2_Missense_Mutation_p.L403M|KCNK2_ENST00000391894.2_Missense_Mutation_p.L392M	p.L407M	NM_001017425.2|NM_014217.3	NP_001017425.2|NP_055032.1	O95069	KCNK2_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0399)|all cancers(67;0.0556)|GBM - Glioblastoma multiforme(131;0.068)	7	1369	+			407			Essential for chloroform and halothane sensitivity (By similarity).|Required for basal channel activity (By similarity).		A1Z1V3|A8K618|B2RCS4|B7ZL56|D3DTA5|Q5DP47|Q5DP48|Q9NRT2|Q9UNE3	Missense_Mutation	SNP	ENST00000444842.2	37	c.1219C>A	CCDS41467.1	.	.	.	.	.	.	.	.	.	.	C	9.666	1.145405	0.21288	.	.	ENSG00000082482	ENST00000391895;ENST00000391894;ENST00000444842	T;T;T	0.27256	1.69;1.71;1.68	5.72	4.77	0.60923	.	0.361804	0.26418	N	0.024488	T	0.13670	0.0331	N	0.14661	0.345	0.37226	D	0.905469	B;B;B	0.13594	0.002;0.004;0.008	B;B;B	0.18263	0.012;0.016;0.021	T	0.14282	-1.0478	10	0.25751	T	0.34	.	6.922	0.24393	0.2197:0.6787:0.0:0.1015	.	392;407;403	O95069-2;O95069;O95069-3	.;KCNK2_HUMAN;.	M	403;392;407	ENSP00000375765:L403M;ENSP00000375764:L392M;ENSP00000394033:L407M	ENSP00000375764:L392M	L	+	1	2	KCNK2	213475049	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.403000	0.34612	1.290000	0.44636	0.561000	0.74099	CTG		0.478	KCNK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089856.2	NM_014217		10	68	1	0	3.07112e-06	1	3.46739e-06	10	68					A	215408426	C	A	215408426	3	1	344	1	0	0	0	0	1	0	0	0	8066	912	32	5	1288	5	KCNK2	1	215408426	Missense_Mutation	SNP	C	TCGA-KK-A8IH-01A-11D-A364-08	62771577	215408426	33842195	4	17390											
C2orf34	79823	broad.mit.edu	37	chr2	44599960	44599960	+	Frame_Shift_Del	DEL	G	G	-																															aaggcaaagaaagggaaactGaagaggaggttggtgcatgg																										TCGA-KK-A8IH-01A-11D-A364-08	TCGA-KK-A8IH-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1652a02-f1e2-4504-bc26-0bc6d272c104	9aec7505-e824-49cf-a520-b4d090863d67	g.chr2:44599960delG	ENST00000378494.3	+	2	288	c.244delG	c.(244-246)gaafs	p.E84fs	CAMKMT_ENST00000477623.1_3'UTR|CAMKMT_ENST00000407131.1_Frame_Shift_Del_p.E84fs|CAMKMT_ENST00000402247.1_Frame_Shift_Del_p.E84fs|CAMKMT_ENST00000403853.3_Frame_Shift_Del_p.E84fs	NM_024766.4	NP_079042.1	Q7Z624	CMKMT_HUMAN	calmodulin-lysine N-methyltransferase	84						Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	calmodulin-lysine N-methyltransferase activity (GO:0018025)			breast(2)|large_intestine(3)|lung(5)	10						AAGGGAAACTGAAGAGGAGGT	0.373																																						ENST00000378494.3																			0				breast(2)|large_intestine(3)|lung(5)	10						c.(244-246)aafs		calmodulin-lysine N-methyltransferase							151	158	155					2																	44599960		2203	4300	6503	SO:0001589	frameshift_variant	79823					cytoplasm	calmodulin-lysine N-methyltransferase activity	g.chr2:44599960delG		CCDS1820.1	2p21	2011-06-22	2011-03-10	2011-03-10	ENSG00000143919	ENSG00000143919	2.1.1.60		26276	protein-coding gene	gene with protein product	"CaM KMT"	609559	"chromosome 2 open reading frame 34"	C2orf34		20975703	Standard	NM_024766		Approved	CLNMT	uc002rum.3	Q7Z624	OTTHUMG00000128761	ENST00000378494.3:c.244delG	2.37:g.44599960delG	ENSP00000367755:p.Glu84fs					CAMKMT_ENST00000403853.3_Frame_Shift_Del_p.E84fs|CAMKMT_ENST00000407131.1_Frame_Shift_Del_p.E84fs|CAMKMT_ENST00000402247.1_Frame_Shift_Del_p.E84fs|CAMKMT_ENST00000477623.1_3'UTR	p.E84fs	NM_024766.3	NP_079042.1	Q7Z624	CMKMT_HUMAN			2	288	+			84					Q4ZG15|Q53SS6|Q8N6P5|Q9H5G8	Frame_Shift_Del	DEL	ENST00000378494.3	37	c.244delG	CCDS1820.1																																																																																				0.373	CAMKMT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250678.2	NM_024766		20	30						20	30	---	---	---	---	-	44599960	G	-	44599960	7	5	344	1	0	1	0	1	0	0	0	0	2163	1291	45	0	250	0	C2orf34	2	44599960	Frame_Shift_Del	DEL	G	TCGA-KK-A8IH-01A-11D-A364-08		44599960	198599413	5	17391											
ACVR1C	130399	broad.mit.edu	37	chr2	158395160	158395160	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acctttctcatttcctctatCgagggatctgaaggcaccat	9	13	7	12	1	3	1	1	1	3	0	6	3	4	2	3	2	0	1	3	2	2	3			TCGA-KK-A8IH-01A-11D-A364-08	TCGA-KK-A8IH-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1652a02-f1e2-4504-bc26-0bc6d272c104	9aec7505-e824-49cf-a520-b4d090863d67	g.chr2:158395160C>A	ENST00000243349.8	-	8	1641	c.1281G>T	c.(1279-1281)tcG>tcT	p.S427S	ACVR1C_ENST00000335450.7_Silent_p.S347S|ACVR1C_ENST00000409680.3_Silent_p.S377S|ACVR1C_ENST00000348328.5_Silent_p.S270S	NM_001111032.1|NM_145259.2	NP_001104502.1|NP_660302.2			activin A receptor, type IC									p.S427S(1)		NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	42						TTTCCTCTATCGAGGGATCTG	0.363																																						ENST00000243349.7																			1	Substitution - coding silent(1)	p.S427S(1)	large_intestine(1)	NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	42						c.(1279-1281)tcG>tcT		activin A receptor, type IC							107	107	107					2																	158395160		2203	4300	6503	SO:0001819	synonymous_variant	130399				apoptosis|cell differentiation|regulation of apoptosis	activin receptor complex	activin receptor activity, type I|ATP binding|transforming growth factor beta receptor activity	g.chr2:158395160C>A	BC022530	CCDS2205.1, CCDS46432.1, CCDS46433.1, CCDS46434.1	2q24.2	2008-02-05			ENSG00000123612	ENSG00000123612			18123	protein-coding gene	gene with protein product		608981					Standard	NM_145259		Approved	ALK7, ACVRLK7	uc002tzk.4	Q8NER5	OTTHUMG00000131964	ENST00000243349.8:c.1281G>T	2.37:g.158395160C>A						ACVR1C_ENST00000409680.3_Silent_p.S377S|ACVR1C_ENST00000348328.5_Silent_p.S270S|ACVR1C_ENST00000335450.7_Silent_p.S347S	p.S427S	NM_145259.2	NP_660302.2	Q8NER5	ACV1C_HUMAN			8	1641	-			427			Protein kinase.			Silent	SNP	ENST00000243349.8	37	c.1281G>T	CCDS2205.1																																																																																				0.363	ACVR1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254924.2	NM_145259		10	65	1	0	6.40141e-05	1	7.00154e-05	10	65					A	158395160	C	A	158395160	2	1	344	1	0	0	0	0	0	0	0	1	222	871	31	5		5	ACVR1C	2	158395160	Silent	SNP	C	TCGA-KK-A8IH-01A-11D-A364-08	113795200	158395160	84804213	6	17392											
BAZ2B	29994	broad.mit.edu	37	chr2	160285752	160285754	+	In_Frame_Del	DEL	TCT	TCT	-																															agttcacgttcatctgttacTcttcttcttttggaagtgcc																										TCGA-KK-A8IH-01A-11D-A364-08	TCGA-KK-A8IH-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1652a02-f1e2-4504-bc26-0bc6d272c104	9aec7505-e824-49cf-a520-b4d090863d67	g.chr2:160285752_160285754delTCT	ENST00000392783.2	-	11	2707_2709	c.2212_2214delAGA	c.(2212-2214)agadel	p.R738del	BAZ2B_ENST00000343439.5_In_Frame_Del_p.R638del|BAZ2B_ENST00000392782.1_In_Frame_Del_p.R736del|BAZ2B_ENST00000355831.2_In_Frame_Del_p.R738del	NM_013450.2	NP_038478.2	Q9UIF8	BAZ2B_HUMAN	bromodomain adjacent to zinc finger domain, 2B	738					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	82						CATCTGTTACTCTTCTTCTTTTG	0.266																																						ENST00000392783.2																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	82						c.(2212-2214)del		bromodomain adjacent to zinc finger domain, 2B																																				SO:0001651	inframe_deletion	29994				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr2:160285752_160285754delTCT	AB032255	CCDS2209.2, CCDS74594.1	2q24.2	2013-01-28			ENSG00000123636	ENSG00000123636		"Zinc fingers, PHD-type"	963	protein-coding gene	gene with protein product		605683				10662543	Standard	XM_005246488		Approved	WALp4	uc002uao.3	Q9UIF8	OTTHUMG00000132027	ENST00000392783.2:c.2212_2214delAGA	2.37:g.160285758_160285760delTCT	ENSP00000376534:p.Arg738del					BAZ2B_ENST00000392782.1_In_Frame_Del_p.R736del|BAZ2B_ENST00000355831.2_In_Frame_Del_p.R738del|BAZ2B_ENST00000343439.5_In_Frame_Del_p.R638del	p.R738del	NM_013450.2	NP_038478.2	Q9UIF8	BAZ2B_HUMAN			11	2707_2709	-			738					D3DPA8|Q96EA1|Q96SQ8|Q9P252|Q9Y4N8	In_Frame_Del	DEL	ENST00000392783.2	37	c.2212_2214delAGA	CCDS2209.2																																																																																				0.266	BAZ2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255037.2			9	35						9	35	---	---	---	---	-	160285754	TCT	-	160285752	7	5	344	1	0	1	0	1	0	0	0	0	1332	1548	54	0	4400	0	BAZ2B	2	160285752	In_Frame_Del	DEL	TCT	TCGA-KK-A8IH-01A-11D-A364-08	1890592	160285752	82913621	7	17393											
PIK3CB	5291	broad.mit.edu	37	chr3	138376590	138376590	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aatgacatggatgaaatcatAggtaagaataaaaggcactc	19	8	9	5	0	1	3	1	2	0	1	2	4	1	4	0	3	0	2	0	3	7	3			TCGA-KK-A8IH-01A-11D-A364-08	TCGA-KK-A8IH-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1652a02-f1e2-4504-bc26-0bc6d272c104	9aec7505-e824-49cf-a520-b4d090863d67	g.chr3:138376590A>T	ENST00000477593.1	-	21	2957	c.2884T>A	c.(2884-2886)Tat>Aat	p.Y962N	PIK3CB_ENST00000289153.2_Missense_Mutation_p.Y962N|PIK3CB_ENST00000544716.1_Missense_Mutation_p.Y413N			P42338	PK3CB_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit beta	962	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.				activation of MAPK activity (GO:0000187)|autophagy (GO:0006914)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|cellular calcium ion homeostasis (GO:0006874)|chemotaxis (GO:0006935)|embryonic cleavage (GO:0040016)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|positive regulation of autophagy (GO:0010508)|regulation of cell-matrix adhesion (GO:0001952)|regulation of clathrin-mediated endocytosis (GO:2000369)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytosol (GO:0005829)|nucleus (GO:0005634)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)			NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	41					Caffeine(DB00201)	ATGAAATCATAGGTAAGAATA	0.383																																						ENST00000477593.1																			0				NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	41						c.(2884-2886)Tat>Aat		phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit beta							117	116	116					3																	138376590		2203	4300	6503	SO:0001583	missense	5291				activation of MAPK activity|chemotaxis|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell receptor signaling pathway	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	g.chr3:138376590A>T		CCDS3104.1	3q22.3	2013-09-19	2012-07-13		ENSG00000051382	ENSG00000051382	2.7.1.153		8976	protein-coding gene	gene with protein product		602925	"phosphoinositide-3-kinase, catalytic, beta polypeptide"	PIK3C1		8246984	Standard	NM_006219		Approved		uc011bmq.3	P42338	OTTHUMG00000159893	ENST00000477593.1:c.2884T>A	3.37:g.138376590A>T	ENSP00000418143:p.Tyr962Asn					PIK3CB_ENST00000544716.1_Missense_Mutation_p.Y413N|PIK3CB_ENST00000289153.2_Missense_Mutation_p.Y962N	p.Y962N			P42338	PK3CB_HUMAN			21	2957	-			962			PI3K/PI4K.		D3DNF0|Q24JU2	Missense_Mutation	SNP	ENST00000477593.1	37	c.2884T>A	CCDS3104.1	.	.	.	.	.	.	.	.	.	.	A	9.937	1.216452	0.22373	.	.	ENSG00000051382	ENST00000477593;ENST00000544716;ENST00000289153	T;T;T	0.80304	-1.36;-1.36;-1.36	5.62	5.62	0.85841	Protein kinase-like domain (1);Phosphatidylinositol 3-/4-kinase, catalytic (4);	0.056155	0.64402	D	0.000001	T	0.69682	0.3138	N	0.17631	0.505	0.80722	D	1	B;B;B	0.24618	0.037;0.009;0.107	B;B;B	0.28991	0.06;0.023;0.097	T	0.65067	-0.6258	10	0.15952	T	0.53	-18.5065	15.8288	0.78736	1.0:0.0:0.0:0.0	.	962;549;413	P42338;B4DZI3;Q68DL0	PK3CB_HUMAN;.;.	N	962;413;962	ENSP00000418143:Y962N;ENSP00000438259:Y413N;ENSP00000289153:Y962N	ENSP00000289153:Y962N	Y	-	1	0	PIK3CB	139859280	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	6.137000	0.71710	2.131000	0.65755	0.528000	0.53228	TAT		0.383	PIK3CB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358019.1			4	37	0	0	0	1	0	4	37					T	138376590	A	T	138376590	3	4	344	1	0	0	0	0	1	0	0	0	11914	420	15	5	338	5	PIK3CB	3	138376590	Missense_Mutation	SNP	A	TCGA-KK-A8IH-01A-11D-A364-08		138376590	59645840	8	17394											
FAM13A	10144	broad.mit.edu	37	chr4	89668954	89668954	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggggagtgtgttgcttcgcTgccgcatcctgggagttagg	4	12	17	8	2	0	0	0	0	0	0	2	2	1	2	2	4	2	5	2	4	1	3			TCGA-KK-A8IH-01A-11D-A364-08	TCGA-KK-A8IH-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1652a02-f1e2-4504-bc26-0bc6d272c104	9aec7505-e824-49cf-a520-b4d090863d67	g.chr4:89668954T>C	ENST00000264344.5	-	18	2417	c.2210A>G	c.(2209-2211)cAg>cGg	p.Q737R	FAM13A_ENST00000508369.1_Missense_Mutation_p.Q411R|FAM13A_ENST00000513837.1_Missense_Mutation_p.Q383R|FAM13A_ENST00000395002.2_Missense_Mutation_p.Q411R|FAM13A_ENST00000511976.1_Missense_Mutation_p.Q323R|FAM13A_ENST00000503556.1_Missense_Mutation_p.Q397R	NM_014883.3	NP_055698.2	O94988	FA13A_HUMAN	family with sequence similarity 13, member A	737					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	55						GTTGCTTCGCTGCCGCATCCT	0.393																																						ENST00000264344.5																			0				NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	55						c.(2209-2211)cAg>cGg		family with sequence similarity 13, member A							100	114	109					4																	89668954		2203	4300	6503	SO:0001583	missense	10144				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	g.chr4:89668954T>C	AB020721	CCDS34029.1, CCDS43251.1, CCDS58911.1, CCDS58912.1, CCDS58913.1	4q22.1	2011-09-07	2009-01-20	2009-01-20	ENSG00000138640	ENSG00000138640		"Rho GTPase activating proteins"	19367	protein-coding gene	gene with protein product		613299	"family with sequence similarity 13, member A1"	FAM13A1			Standard	NM_014883		Approved	KIAA0914, ARHGAP48	uc003hse.2	O94988	OTTHUMG00000161006	ENST00000264344.5:c.2210A>G	4.37:g.89668954T>C	ENSP00000264344:p.Gln737Arg					FAM13A_ENST00000511976.1_Missense_Mutation_p.Q323R|FAM13A_ENST00000503556.1_Missense_Mutation_p.Q397R|FAM13A_ENST00000395002.2_Missense_Mutation_p.Q411R|FAM13A_ENST00000508369.1_Missense_Mutation_p.Q411R|FAM13A_ENST00000513837.1_Missense_Mutation_p.Q383R	p.Q737R	NM_014883.3	NP_055698.2	O94988	FA13A_HUMAN			18	2417	-			737					B4DLC1|Q24JP0|Q5PR21|Q8NBA3	Missense_Mutation	SNP	ENST00000264344.5	37	c.2210A>G	CCDS34029.1	.	.	.	.	.	.	.	.	.	.	T	15.33	2.801249	0.50315	.	.	ENSG00000138640	ENST00000395002;ENST00000264344;ENST00000503556;ENST00000511976;ENST00000508369;ENST00000513837	T;T;T;T;T;T	0.47528	0.84;2.12;1.43;1.47;1.43;1.44	5.26	5.26	0.73747	.	0.000000	0.85682	D	0.000000	T	0.65069	0.2656	M	0.66939	2.045	0.80722	D	1	P;D;D;D;P;P	0.71674	0.89;0.996;0.997;0.998;0.865;0.89	P;D;D;D;P;P	0.80764	0.6;0.986;0.986;0.994;0.519;0.6	T	0.61686	-0.7012	10	0.24483	T	0.36	.	15.3531	0.74405	0.0:0.0:0.0:1.0	.	383;323;737;411;397;411	O94988-6;E9PGM7;O94988;O94988-3;O94988-5;O94988-1	.;.;FA13A_HUMAN;.;.;.	R	411;737;397;323;411;383	ENSP00000378450:Q411R;ENSP00000264344:Q737R;ENSP00000427189:Q397R;ENSP00000421914:Q323R;ENSP00000421562:Q411R;ENSP00000423252:Q383R	ENSP00000264344:Q737R	Q	-	2	0	FAM13A	89887977	1.000000	0.71417	1.000000	0.80357	0.285000	0.27093	4.985000	0.63845	2.207000	0.71202	0.533000	0.62120	CAG		0.393	FAM13A-022	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363371.1			17	69	0	0	0	1	0	17	69					C	89668954	T	C	89668954	3	2	344	1	0	0	0	0	1	0	0	0	5452	1580	55	4	889	4	FAM13A	4	89668954	Missense_Mutation	SNP	T	TCGA-KK-A8IH-01A-11D-A364-08		89668954	101485322	9	17395											
MARCH1	55016	broad.mit.edu	37	chr4	164534558	164534558	+	Intron	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgcttgcctggagaaacaaGttagataatttggcatcttg	11	13	10	7	0	1	2	0	0	1	2	1	3	1	2	1	2	3	3	1	2	4	5			TCGA-KK-A8IH-01A-11D-A364-08	TCGA-KK-A8IH-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1652a02-f1e2-4504-bc26-0bc6d272c104	9aec7505-e824-49cf-a520-b4d090863d67	g.chr4:164534558G>C	ENST00000503008.1	-	5	1139				MARCH1_ENST00000514618.1_Intron|MARCH1_ENST00000274056.7_Intron|MARCH1_ENST00000339875.5_Missense_Mutation_p.N33K	NM_001166373.1	NP_001159845.1	Q8TCQ1	MARH1_HUMAN	membrane-associated ring finger (C3HC4) 1, E3 ubiquitin protein ligase						antigen processing and presentation of peptide antigen via MHC class II (GO:0002495)|immune response (GO:0006955)|protein polyubiquitination (GO:0000209)	cytoplasmic vesicle (GO:0031410)|early endosome membrane (GO:0031901)|endoplasmic reticulum membrane (GO:0005789)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)	ligase activity (GO:0016874)|MHC protein binding (GO:0042287)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(3)|large_intestine(3)|lung(20)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	36	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				GGAGAAACAAGTTAGATAATT	0.438																																						ENST00000339875.5																			0				endometrium(2)|kidney(3)|large_intestine(3)|lung(20)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	36						c.(97-99)aaC>aaG		membrane-associated ring finger (C3HC4) 1, E3 ubiquitin protein ligase							139	126	130					4																	164534558		2203	4300	6503	SO:0001627	intron_variant	55016				antigen processing and presentation of peptide antigen via MHC class II|immune response	cytoplasmic vesicle membrane|early endosome membrane|Golgi apparatus|integral to membrane|late endosome membrane|lysosomal membrane|plasma membrane	MHC protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr4:164534558G>C	AK000675	CCDS3806.1, CCDS54814.1	4q32.2	2013-01-09	2012-02-23			ENSG00000145416		"MARCH membrane-associated ring fingers", "RING-type (C3HC4) zinc fingers"	26077	protein-coding gene	gene with protein product		613331	"membrane-associated ring finger (C3HC4) 1"			14722266	Standard	NM_017923		Approved	FLJ20668, MARCH-I, RNF171	uc003iqs.2	Q8TCQ1		ENST00000503008.1:c.163-13C>G	4.37:g.164534558G>C						MARCH1_ENST00000503008.1_Intron|MARCH1_ENST00000274056.7_Intron|MARCH1_ENST00000514618.1_Intron	p.N33K	NM_017923.3	NP_060393.1	Q8TCQ1	MARH1_HUMAN			1	128	-	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)	50			Responsible for low stability (By similarity).		D3DP29|Q9NWR0	Missense_Mutation	SNP	ENST00000503008.1	37	c.99C>G	CCDS54814.1	.	.	.	.	.	.	.	.	.	.	G	14.18	2.459168	0.43634	.	.	ENSG00000145416	ENST00000339875	T	0.32515	1.45	5.84	4.99	0.66335	.	.	.	.	.	T	0.29491	0.0735	L	0.55990	1.75	0.80722	D	1	B	0.32188	0.359	B	0.33620	0.167	T	0.03060	-1.1077	8	.	.	.	.	11.4996	0.50430	0.1377:0.0:0.8623:0.0	.	33	Q8TCQ1-2	.	K	33	ENSP00000345676:N33K	.	N	-	3	2	MARCH1	164754008	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.784000	0.47774	2.754000	0.94517	0.655000	0.94253	AAC		0.438	MARCH1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364493.2	NM_017923		17	36	0	0	0	1	0	17	36					C	164534558	G	C	164534558	1	2	344	0	1	0	0	0	0	0	0	0	9298	1020	36	5		5	MARCH1	4	164534558	Intron	SNP	G	TCGA-KK-A8IH-01A-11D-A364-08	74865604	164534558	26619718	10	17396											
COL11A2	6257	broad.mit.edu	37	chr6	33159947	33159947	+	IGR	DEL	G	G	-																															tcctcttacctgcccagcctGgggccgcgctcagccccagc																										TCGA-KK-A8IH-01A-11D-A364-08	TCGA-KK-A8IH-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1652a02-f1e2-4504-bc26-0bc6d272c104	9aec7505-e824-49cf-a520-b4d090863d67	g.chr6:33159947delG	ENST00000374680.3	-	0	2908				COL11A2_ENST00000374712.1_Frame_Shift_Del_p.P24fs|COL11A2_ENST00000395194.1_Frame_Shift_Del_p.P24fs|COL11A2_ENST00000361917.1_Frame_Shift_Del_p.P24fs|COL11A2_ENST00000341947.2_Frame_Shift_Del_p.P24fs|COL11A2_ENST00000374714.1_Frame_Shift_Del_p.P24fs|COL11A2_ENST00000374713.1_Frame_Shift_Del_p.P24fs|COL11A2_ENST00000357486.1_Frame_Shift_Del_p.P24fs|COL11A2_ENST00000374708.4_Frame_Shift_Del_p.P24fs|COL11A2_ENST00000395197.1_Frame_Shift_Del_p.P24fs	NM_001270401.1|NM_021976.4	NP_001257330.1|NP_068811.1	P28702	RXRB_HUMAN	retinoid X receptor, beta						cardiac muscle cell proliferation (GO:0060038)|cellular response to retinoic acid (GO:0071300)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|maternal placenta development (GO:0001893)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription initiation from RNA polymerase II promoter (GO:0006367)|ventricular cardiac muscle cell differentiation (GO:0055012)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	9-cis retinoic acid receptor activity (GO:0004886)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(1)|skin(2)	15					Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Bexarotene(DB00307)|Tazarotene(DB00799)|Tretinoin(DB00755)	TGCCCAGCCTGGGGCCGCGCT	0.677																																						ENST00000341947.2																			0				biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						c.(70-72)cafs		collagen, type XI, alpha 2							9	7	7					6																	33159947		1463	2665	4128	SO:0001628	intergenic_variant	1302				cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development	collagen type XI	extracellular matrix structural constituent conferring tensile strength|protein binding, bridging	g.chr6:33159947delG	M84820	CCDS4768.1, CCDS59007.1	6p21.3	2013-01-16			ENSG00000204231	ENSG00000204231		"Nuclear hormone receptors"	10478	protein-coding gene	gene with protein product	"nuclear receptor subfamily 2 group B member 2"	180246				8257090	Standard	NM_021976		Approved	NR2B2, H-2RIIBP, RCoR-1	uc003odc.4	P28702	OTTHUMG00000031298		6.37:g.33159947delG						COL11A2_ENST00000357486.1_Frame_Shift_Del_p.P24fs|COL11A2_ENST00000361917.1_Frame_Shift_Del_p.P24fs|COL11A2_ENST00000395194.1_Frame_Shift_Del_p.P24fs|COL11A2_ENST00000374714.1_Frame_Shift_Del_p.P24fs|COL11A2_ENST00000374708.4_Frame_Shift_Del_p.P24fs|COL11A2_ENST00000374712.1_Frame_Shift_Del_p.P24fs|COL11A2_ENST00000374713.1_Frame_Shift_Del_p.P24fs|COL11A2_ENST00000395197.1_Frame_Shift_Del_p.P24fs	p.P24fs	NM_080680.2	NP_542411.2	P13942	COBA2_HUMAN			1	298	-			24					P28703|Q59G65|Q5JP92|Q5STQ1	Frame_Shift_Del	DEL	ENST00000374680.3	37	c.71delC	CCDS4768.1																																																																																				0.677	RXRB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000076642.2	NM_021976		2	4						2	4	---	---	---	---	-	33159947	G	-	33159947	6	5	344	0	1	1	0	1	0	0	0	0	3668	1348	47	0		0	COL11A2	6	33159947	IGR	DEL	G	TCGA-KK-A8IH-01A-11D-A364-08		33159947	137955120	11	17397											
KCNK5	8645	broad.mit.edu	37	chr6	39159466	39159466	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	aagggacagccaggccagccCcaagtagatccagagctcca	13	3	11	14	0	0	2	0	0	0	2	2	3	2	3	6	2	3	2	6	2	3	1			TCGA-KK-A8IH-01A-11D-A364-08	TCGA-KK-A8IH-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1652a02-f1e2-4504-bc26-0bc6d272c104	9aec7505-e824-49cf-a520-b4d090863d67	g.chr6:39159466C>T	ENST00000359534.3	-	5	1038	c.700G>A	c.(700-702)Ggg>Agg	p.G234R		NM_003740.3	NP_003731.1	O95279	KCNK5_HUMAN	potassium channel, subfamily K, member 5	234					excretion (GO:0007588)|potassium ion transport (GO:0006813)	integral component of plasma membrane (GO:0005887)	potassium channel activity (GO:0005267)|voltage-gated ion channel activity (GO:0005244)			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(4)|skin(3)	19						CAGGCCAGCCCCAAGTAGATC	0.577																																						ENST00000359534.3																			0				central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(4)|skin(3)	19						c.(700-702)Ggg>Agg		potassium channel, subfamily K, member 5							83	94	90					6																	39159466		2203	4300	6503	SO:0001583	missense	8645				excretion	integral to plasma membrane	potassium channel activity|voltage-gated ion channel activity	g.chr6:39159466C>T	AF084830	CCDS4841.1	6p21	2012-03-07			ENSG00000164626	ENSG00000164626		"Potassium channels", "Voltage-gated ion channels / Potassium channels, Two-P"	6280	protein-coding gene	gene with protein product		603493				9812978, 16382106	Standard	XM_005249456		Approved	K2p5.1, TASK-2	uc003oon.3	O95279	OTTHUMG00000014642	ENST00000359534.3:c.700G>A	6.37:g.39159466C>T	ENSP00000352527:p.Gly234Arg						p.G234R	NM_003740.3	NP_003731.1	O95279	KCNK5_HUMAN			5	1038	-			234					B2RAQ6|B5TJL2|Q5VV76	Missense_Mutation	SNP	ENST00000359534.3	37	c.700G>A	CCDS4841.1	.	.	.	.	.	.	.	.	.	.	C	28.6	4.931871	0.92389	.	.	ENSG00000164626	ENST00000359534	T	0.61627	0.09	5.27	5.27	0.74061	Ion transport 2 (1);	0.045585	0.85682	N	0.000000	T	0.82157	0.4976	H	0.95365	3.66	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.87285	0.2295	10	0.87932	D	0	.	19.2502	0.93921	0.0:1.0:0.0:0.0	.	234	O95279	KCNK5_HUMAN	R	234	ENSP00000352527:G234R	ENSP00000352527:G234R	G	-	1	0	KCNK5	39267444	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.776000	0.85560	2.619000	0.88677	0.561000	0.74099	GGG		0.577	KCNK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040449.1	NM_003740		17	62	0	0	0	1	0	17	62					T	39159466	C	T	39159466	3	4	344	1	0	0	0	0	1	0	0	0	8069	623	22	3	803	3	KCNK5	6	39159466	Missense_Mutation	SNP	C	TCGA-KK-A8IH-01A-11D-A364-08	5999519	39159466	131955601	12	17398											
RAB32	10981	broad.mit.edu	37	chr6	146865012	146865013	+	Frame_Shift_Ins	INS	-	-	G																															acagccgcagcgctcatggcINSgggcggaggagccggggacc																										TCGA-KK-A8IH-01A-11D-A364-08	TCGA-KK-A8IH-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1652a02-f1e2-4504-bc26-0bc6d272c104	9aec7505-e824-49cf-a520-b4d090863d67	g.chr6:146865012_146865013insG	ENST00000367495.3	+	1	184_185	c.5_6insG	c.(4-9)gcgggcfs	p.AG2fs		NM_006834.3	NP_006825.1	Q13637	RAB32_HUMAN	RAB32, member RAS oncogene family	2					antigen processing and presentation (GO:0019882)|endosome to melanosome transport (GO:0035646)|GTP catabolic process (GO:0006184)|melanosome organization (GO:0032438)|phagosome maturation (GO:0090382)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	early endosome (GO:0005769)|melanosome (GO:0042470)|membrane (GO:0016020)|mitochondrion (GO:0005739)|phagocytic vesicle (GO:0045335)	AP-1 adaptor complex binding (GO:0035650)|AP-3 adaptor complex binding (GO:0035651)|GTP binding (GO:0005525)|GTP-dependent protein binding (GO:0030742)|GTPase activity (GO:0003924)|protein complex binding (GO:0032403)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)	8		Ovarian(120;0.142)		OV - Ovarian serous cystadenocarcinoma(155;2.68e-09)|GBM - Glioblastoma multiforme(68;0.00608)		GCGCTCATGGCGGGCGGAGGAg	0.792																																						ENST00000367495.3																			0				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)	8						c.(4-6)gggfs		RAB32, member RAS oncogene family																																				SO:0001589	frameshift_variant	10981				protein transport|small GTPase mediated signal transduction	mitochondrion	GTP binding	g.chr6:146865012_146865013insG	U71127	CCDS5210.1	6q24.2	2010-08-20			ENSG00000118508	ENSG00000118508		"RAB, member RAS oncogene", "A-kinase anchor proteins"	9772	protein-coding gene	gene with protein product		612906					Standard	NM_006834		Approved		uc003qln.1	Q13637	OTTHUMG00000015755	ENST00000367495.3:c.8dupG	6.37:g.146865015_146865015dupG	ENSP00000356465:p.Ala2fs						p.G2fs	NM_006834.3	NP_006825.1	Q13637	RAB32_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;2.68e-09)|GBM - Glioblastoma multiforme(68;0.00608)	1	184_185	+		Ovarian(120;0.142)	2						Frame_Shift_Ins	INS	ENST00000367495.3	37	c.5_6insG	CCDS5210.1																																																																																				0.792	RAB32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042579.1	NM_006834		2	4						2	4	---	---	---	---	G	146865013	-	G	146865012	7	5	344	1	0	1	1	0	0	0	0	0	12921	768	27	0	7	0	RAB32	6	146865012	Frame_Shift_Ins	INS	-	TCGA-KK-A8IH-01A-11D-A364-08	107705546	146865012	24250055	13	17399											
CYP2W1	54905	broad.mit.edu	37	chr7	1027017	1027017	+	Frame_Shift_Del	DEL	C	C	-																															gagctagaccgcgtgctgggCcctgggcggactccccggct																										TCGA-KK-A8IH-01A-11D-A364-08	TCGA-KK-A8IH-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1652a02-f1e2-4504-bc26-0bc6d272c104	9aec7505-e824-49cf-a520-b4d090863d67	g.chr7:1027017delC	ENST00000308919.7	+	7	1006	c.993delC	c.(991-993)ggcfs	p.G331fs	CYP2W1_ENST00000340150.6_Frame_Shift_Del_p.G275fs	NM_017781.2	NP_060251.2	Q8TAV3	CP2W1_HUMAN	cytochrome P450, family 2, subfamily W, polypeptide 1	331					small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen (GO:0016705)			breast(1)|large_intestine(1)|lung(4)|urinary_tract(1)	7		Ovarian(82;0.0112)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;1.74e-15)		GCGTGCTGGGCCCTGGGCGGA	0.731																																						ENST00000340150.6																			0				breast(1)|large_intestine(1)|lung(4)|urinary_tract(1)	7						c.(823-825)ggfs		cytochrome P450, family 2, subfamily W, polypeptide 1							10	13	12					7																	1027017		2152	4264	6416	SO:0001589	frameshift_variant	54905				xenobiotic metabolic process	endoplasmic reticulum membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen	g.chr7:1027017delC	AK000366	CCDS5319.2	7p22.3	2004-07-05			ENSG00000073067	ENSG00000073067		"Cytochrome P450s"	20243	protein-coding gene	gene with protein product		615967					Standard	XM_005249792		Approved	FLJ20359, MGC34287	uc003sjq.1	Q8TAV3	OTTHUMG00000074071	ENST00000308919.7:c.993delC	7.37:g.1027017delC	ENSP00000310149:p.Gly331fs					CYP2W1_ENST00000308919.7_Frame_Shift_Del_p.G331fs	p.G275fs			Q8TAV3	CP2W1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;1.74e-15)	7	847	+		Ovarian(82;0.0112)	331						Frame_Shift_Del	DEL	ENST00000308919.7	37	c.825delC	CCDS5319.2																																																																																				0.731	CYP2W1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157249.1	NM_017781		2	4						2	4	---	---	---	---	-	1027017	C	-	1027017	7	5	344	1	0	1	0	1	0	0	0	0	4176	726	26	0	1019	0	CYP2W1	7	1027017	Frame_Shift_Del	DEL	C	TCGA-KK-A8IH-01A-11D-A364-08		1027017	158111646	14	17400											
PCLO	27445	broad.mit.edu	37	chr7	82545907	82545907	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aattcccatttccaggtatcGtagcttagcatcaatctcct	10	14	5	12	1	2	0	1	0	1	0	6	0	4	0	3	1	2	4	3	1	5	5			TCGA-KK-A8IH-01A-11D-A364-08	TCGA-KK-A8IH-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1652a02-f1e2-4504-bc26-0bc6d272c104	9aec7505-e824-49cf-a520-b4d090863d67	g.chr7:82545907G>A	ENST00000333891.9	-	7	11732	c.11395C>T	c.(11395-11397)Cga>Tga	p.R3799*	PCLO_ENST00000423517.2_Nonsense_Mutation_p.R3799*|PCLO_ENST00000437081.1_Nonsense_Mutation_p.R519*	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein											breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TCCAGGTATCGTAGCTTAGCA	0.448																																						ENST00000423517.2																			0				breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						c.(11395-11397)Cga>Tga		piccolo presynaptic cytomatrix protein							169	149	156					7																	82545907		1891	4126	6017	SO:0001587	stop_gained	27445				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	g.chr7:82545907G>A	AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"aczonin"	604918	"piccolo (presynaptic cytomatrix protein)"			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.11395C>T	7.37:g.82545907G>A	ENSP00000334319:p.Arg3799*					PCLO_ENST00000333891.8_Nonsense_Mutation_p.R3799*|PCLO_ENST00000437081.1_Nonsense_Mutation_p.R519*	p.R3799*	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN			7	11732	-			3730			Gln-rich.			Nonsense_Mutation	SNP	ENST00000333891.9	37	c.11395C>T	CCDS47630.1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.510077	0.85282	.	.	ENSG00000186472	ENST00000333891;ENST00000423517;ENST00000437081	.	.	.	5.8	4.87	0.63330	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	13.9865	0.64339	0.0:0.0:0.7408:0.2592	.	.	.	.	X	3799;3799;519	.	ENSP00000334319:R3799X	R	-	1	2	PCLO	82383843	0.975000	0.34042	0.998000	0.56505	0.979000	0.70002	1.283000	0.33237	2.758000	0.94735	0.563000	0.77884	CGA		0.448	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510		11	14	0	0	0	1	0	11	14					A	82545907	G	A	82545907	4	1	344	1	0	0	0	0	0	1	0	0	11583	1153	40	1	4126	1	PCLO	7	82545907	Nonsense_Mutation	SNP	G	TCGA-KK-A8IH-01A-11D-A364-08	81518890	82545907	76592756	15	17401											
MTMR7	9108	broad.mit.edu	37	chr8	17188685	17188685	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcattttctgcagactgttcCtcatgacatggatgttctct	7	16	8	10	0	3	2	1	1	2	1	5	3	4	3	1	1	1	4	1	1	0	4			TCGA-KK-A8IH-01A-11D-A364-08	TCGA-KK-A8IH-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1652a02-f1e2-4504-bc26-0bc6d272c104	9aec7505-e824-49cf-a520-b4d090863d67	g.chr8:17188685C>T	ENST00000180173.5	-	7	873	c.839G>A	c.(838-840)aGg>aAg	p.R280K	MTMR7_ENST00000521857.1_Missense_Mutation_p.R280K	NM_004686.4	NP_004677.3	Q9Y216	MTMR7_HUMAN	myotubularin related protein 7	280	Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}.				inositol phosphate dephosphorylation (GO:0046855)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|protein dephosphorylation (GO:0006470)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|membrane (GO:0016020)	protein tyrosine phosphatase activity (GO:0004725)			breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|liver(1)|lung(8)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	32				Colorectal(111;0.112)		CAGACTGTTCCTCATGACATG	0.383																																						ENST00000180173.5																			0				breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|liver(1)|lung(8)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	32						c.(838-840)aGg>aAg		myotubularin related protein 7							208	181	190					8																	17188685		2203	4300	6503	SO:0001583	missense	9108						protein tyrosine phosphatase activity	g.chr8:17188685C>T	AF073482	CCDS34851.1	8p22	2011-06-09			ENSG00000003987	ENSG00000003987		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"	7454	protein-coding gene	gene with protein product		603562				9736772, 12890864	Standard	NM_004686		Approved		uc003wxm.3	Q9Y216	OTTHUMG00000163771	ENST00000180173.5:c.839G>A	8.37:g.17188685C>T	ENSP00000180173:p.Arg280Lys					MTMR7_ENST00000521857.1_Missense_Mutation_p.R280K	p.R280K	NM_004686.4	NP_004677.3	Q9Y216	MTMR7_HUMAN		Colorectal(111;0.112)	7	873	-			280			Myotubularin phosphatase.		A1L4K9|B4DG87|Q68DX4	Missense_Mutation	SNP	ENST00000180173.5	37	c.839G>A	CCDS34851.1	.	.	.	.	.	.	.	.	.	.	C	35	5.505421	0.96371	.	.	ENSG00000003987	ENST00000180173;ENST00000521857	D;D	0.93604	-3.25;-3.25	5.11	5.11	0.69529	Myotubularin phosphatase domain (1);	0.000000	0.85682	D	0.000000	D	0.96759	0.8942	M	0.80746	2.51	0.80722	D	1	D;D	0.76494	0.999;0.993	D;D	0.74348	0.983;0.935	D	0.96862	0.9633	10	0.72032	D	0.01	.	19.1213	0.93365	0.0:1.0:0.0:0.0	.	280;280	Q9Y216-2;Q9Y216	.;MTMR7_HUMAN	K	280	ENSP00000180173:R280K;ENSP00000429733:R280K	ENSP00000180173:R280K	R	-	2	0	MTMR7	17233056	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.630000	0.83225	2.832000	0.97577	0.655000	0.94253	AGG		0.383	MTMR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375311.1	NM_004686		7	45	0	0	0	1	0	7	45					T	17188685	C	T	17188685	3	4	344	1	0	0	0	0	1	0	0	0	9948	681	24	3	1175	3	MTMR7	8	17188685	Missense_Mutation	SNP	C	TCGA-KK-A8IH-01A-11D-A364-08		17188685	129175337	16	17402											
BAI1	575	broad.mit.edu	37	chr8	143565394	143565394	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gagaatcgggacaagtgggaGgaggcccagctggtagggcc	10	4	19	8	1	0	1	0	0	0	1	1	5	0	4	2	6	1	2	2	6	3	1			TCGA-KK-A8IH-01A-11D-A364-08	TCGA-KK-A8IH-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1652a02-f1e2-4504-bc26-0bc6d272c104	9aec7505-e824-49cf-a520-b4d090863d67	g.chr8:143565394G>A	ENST00000517894.1	+	12	3081	c.2187G>A	c.(2185-2187)gaG>gaA	p.E729E	BAI1_ENST00000323289.5_Silent_p.E729E			O14514	BAI1_HUMAN	brain-specific angiogenesis inhibitor 1	729					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell proliferation (GO:0008285)|neuropeptide signaling pathway (GO:0007218)|peripheral nervous system development (GO:0007422)|signal transduction (GO:0007165)	cell-cell junction (GO:0005911)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(28)|ovary(4)|pancreas(1)|prostate(7)	57	all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					ACAAGTGGGAGGAGGCCCAGC	0.622																																						ENST00000517894.1																			0				NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(28)|ovary(4)|pancreas(1)|prostate(7)	57						c.(2185-2187)gaG>gaA		brain-specific angiogenesis inhibitor 1							131	132	131					8																	143565394		1895	4106	6001	SO:0001819	synonymous_variant	575				axonogenesis|cell adhesion|negative regulation of angiogenesis|negative regulation of cell proliferation|neuropeptide signaling pathway|peripheral nervous system development	cell-cell junction|integral to plasma membrane	G-protein coupled receptor activity|protein binding	g.chr8:143565394G>A	AB005297	CCDS64985.1	8q24.3	2014-08-08			ENSG00000181790	ENSG00000181790		"-", "GPCR / Class B : Orphans"	943	protein-coding gene	gene with protein product		602682				9533023	Standard	NM_001702		Approved		uc003ywm.3	O14514	OTTHUMG00000164732	ENST00000517894.1:c.2187G>A	8.37:g.143565394G>A						BAI1_ENST00000323289.5_Silent_p.E729E	p.E729E			O14514	BAI1_HUMAN			12	3081	+	all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)		729						Silent	SNP	ENST00000517894.1	37	c.2187G>A																																																																																					0.622	BAI1-001	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000379963.3	NM_001702		5	95	0	0	0	1	0	5	95					A	143565394	G	A	143565394	2	1	344	1	0	0	0	0	0	0	0	1	1298	991	35	3		3	BAI1	8	143565394	Silent	SNP	G	TCGA-KK-A8IH-01A-11D-A364-08	126376709	143565394	2798628	17	17403											
FAM22G	441457	broad.mit.edu	37	chr9	99698708	99698708	+	Splice_Site	DEL	T	T	-																															gggcctccttcacccccaggTtcctggagtttgaggctgag																										TCGA-KK-A8IH-01A-11D-A364-08	TCGA-KK-A8IH-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1652a02-f1e2-4504-bc26-0bc6d272c104	9aec7505-e824-49cf-a520-b4d090863d67	g.chr9:99698708delT	ENST00000372322.3	+	4	865	c.844delT	c.(844-846)ttc>tc	p.F282fs	NUTM2G_ENST00000354649.3_Splice_Site_p.F282fs|HIATL2_ENST00000506067.1_Intron	NM_001170741.1	NP_001164212.1	Q5VZR2	NTM2G_HUMAN	NUT family member 2G	282																	CACCCCCAGGTTCCTGGAGTT	0.667																																						ENST00000354649.3																			0											c.e4-1		NUT family member 2G							16	20	19					9																	99698708		1896	3926	5822	SO:0001630	splice_region_variant	441457							g.chr9:99698708delT		CCDS43854.1, CCDS55329.1	9q22.33	2013-05-02	2013-03-14	2013-05-02	ENSG00000188152	ENSG00000188152			23449	protein-coding gene	gene with protein product			"family with sequence similarity 22, member G"	FAM22G			Standard	NM_001045477		Approved			Q5VZR2	OTTHUMG00000020305	ENST00000372322.3:c.843-1T>-	9.37:g.99698708delT						NUTM2G_ENST00000372322.3_Splice_Site_p.F282_splice|HIATL2_ENST00000506067.1_Intron	p.F282_splice	NM_001045477.2	NP_001038942.1					4	1559	+								A6NNI5|Q5VZR3	Splice_Site	DEL	ENST00000372322.3	37	c.842_splice	CCDS55329.1																																																																																				0.667	NUTM2G-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053291.2	NM_001170741	Frame_Shift_Del	2	4						2	4	---	---	---	---	-	99698708	T	-	99698708	8	5	344	1	0	1	0	1	0	0	1	0	5546	1739	60	0	858	0	FAM22G	9	99698708	Splice_Site	DEL	T	TCGA-KK-A8IH-01A-11D-A364-08		99698708	41514723	18	17404											
TTC18	118491	broad.mit.edu	37	chr10	75029417	75029417	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcccatacttcagcattgtaGttgttcaatgcattggcttc	8	15	8	10	0	2	0	2	0	0	0	3	0	2	0	1	1	3	6	1	1	3	8			TCGA-KK-A8IH-01A-11D-A364-08	TCGA-KK-A8IH-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1652a02-f1e2-4504-bc26-0bc6d272c104	9aec7505-e824-49cf-a520-b4d090863d67	g.chr10:75029417G>C	ENST00000310715.3	-	26	3312	c.3192C>G	c.(3190-3192)aaC>aaG	p.N1064K	TTC18_ENST00000340329.3_Missense_Mutation_p.N304K|TTC18_ENST00000401621.2_Missense_Mutation_p.N1064K|TTC18_ENST00000493787.1_Intron|DNAJC9-AS1_ENST00000440197.2_RNA|TTC18_ENST00000355577.3_Missense_Mutation_p.N533K|TTC18_ENST00000394865.1_Missense_Mutation_p.N1034K	NM_145170.3	NP_660153.3	Q5T0N1	TTC18_HUMAN		1064						extracellular vesicular exosome (GO:0070062)				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	Prostate(51;0.0119)					CAGCATTGTAGTTGTTCAATG	0.463																																						ENST00000401621.2																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						c.(3190-3192)aaC>aaG		tetratricopeptide repeat domain 18							173	141	152					10																	75029417		2203	4300	6503	SO:0001583	missense	118491						binding	g.chr10:75029417G>C																												ENST00000310715.3:c.3192C>G	10.37:g.75029417G>C	ENSP00000310829:p.Asn1064Lys					TTC18_ENST00000394865.1_Missense_Mutation_p.N1034K|TTC18_ENST00000493787.1_Intron|DNAJC9-AS1_ENST00000440197.2_RNA|TTC18_ENST00000355577.3_Missense_Mutation_p.N533K|TTC18_ENST00000340329.3_Missense_Mutation_p.N304K|TTC18_ENST00000310715.3_Missense_Mutation_p.N1064K	p.N1064K			Q5T0N1	TTC18_HUMAN			26	3312	-	Prostate(51;0.0119)		1064					C9JIZ9|Q5T0M4|Q5T0M9|Q5T0N0|Q69YH9|Q8IYZ8|Q8N7D5|Q8NI30|Q8NI31	Missense_Mutation	SNP	ENST00000310715.3	37	c.3192C>G	CCDS7324.3	.	.	.	.	.	.	.	.	.	.	G	18.61	3.661313	0.67700	.	.	ENSG00000156042	ENST00000310715;ENST00000401621;ENST00000355577;ENST00000340329;ENST00000433268;ENST00000394865	T;T;T;T;T	0.73363	1.22;1.22;-0.74;0.73;1.24	5.85	3.03	0.35002	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.344398	0.34362	N	0.004027	T	0.80909	0.4714	M	0.72894	2.215	0.49213	D	0.999764	D	0.89917	1.0	D	0.87578	0.998	T	0.76884	-0.2794	10	0.09843	T	0.71	-17.5675	9.6483	0.39881	0.2256:0.0:0.7744:0.0	.	1064	Q5T0N1	TTC18_HUMAN	K	1064;1064;1064;304;441;1034	ENSP00000310829:N1064K;ENSP00000384479:N1064K;ENSP00000343650:N304K;ENSP00000409527:N441K;ENSP00000378334:N1034K	ENSP00000310829:N1064K	N	-	3	2	TTC18	74699423	1.000000	0.71417	0.989000	0.46669	0.974000	0.67602	1.706000	0.37878	0.396000	0.25283	0.655000	0.94253	AAC		0.463	TTC18-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding				5	37	0	0	0	1	0	5	37					C	75029417	G	C	75029417	3	2	344	1	0	0	0	0	1	0	0	0	16682	1020	36	5	185	5	TTC18	10	75029417	Missense_Mutation	SNP	G	TCGA-KK-A8IH-01A-11D-A364-08		75029417	60505330	19	17405											
SNX19	399979	broad.mit.edu	37	chr11	130775905	130775905	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tgcatctgacacgcaactgtCcacacgtcctttgggaggtt	8	11	10	12	2	1	1	0	1	1	0	3	2	3	2	2	2	2	3	2	2	1	2			TCGA-KK-A8IH-01A-11D-A364-08	TCGA-KK-A8IH-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1652a02-f1e2-4504-bc26-0bc6d272c104	9aec7505-e824-49cf-a520-b4d090863d67	g.chr11:130775905C>T	ENST00000265909.4	-	7	2955	c.2386G>A	c.(2386-2388)Gac>Aac	p.D796N	SNX19_ENST00000530356.1_Missense_Mutation_p.D176N|SNX19_ENST00000533318.1_5'UTR|SNX19_ENST00000533214.1_Missense_Mutation_p.D779N|SNX19_ENST00000539184.1_Missense_Mutation_p.D239N|SNX19_ENST00000534726.1_Missense_Mutation_p.D36N|SNX19_ENST00000545537.1_Missense_Mutation_p.D36N|SNX19_ENST00000528555.1_Missense_Mutation_p.D176N	NM_014758.2	NP_055573	Q92543	SNX19_HUMAN	sorting nexin 19	796					protein transport (GO:0015031)	cytoplasmic vesicle (GO:0031410)|membrane (GO:0016020)	phosphatidylinositol binding (GO:0035091)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(8)|ovary(3)|prostate(1)|skin(6)|urinary_tract(1)	35	all_hematologic(175;0.0597)	Lung NSC(97;0.000272)|all_lung(97;0.000608)|Breast(109;0.000962)|all_neural(223;0.0298)|Medulloblastoma(222;0.0425)		OV - Ovarian serous cystadenocarcinoma(99;0.0195)|Lung(977;0.233)		ACGCAACTGTCCACACGTCCT	0.527																																						ENST00000265909.4																			0				central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(8)|ovary(3)|prostate(1)|skin(6)|urinary_tract(1)	35						c.(2386-2388)Gac>Aac		sorting nexin 19							141	122	129					11																	130775905		2201	4297	6498	SO:0001583	missense	399979				cell communication|protein transport	cytoplasmic vesicle membrane	phosphatidylinositol binding|protein binding	g.chr11:130775905C>T	D87443	CCDS31721.1, CCDS73416.1	11q25	2010-04-20			ENSG00000120451	ENSG00000120451		"Sorting nexins"	21532	protein-coding gene	gene with protein product							Standard	NM_014758		Approved	KIAA0254, CHET8	uc001qgk.4	Q92543	OTTHUMG00000165663	ENST00000265909.4:c.2386G>A	11.37:g.130775905C>T	ENSP00000265909:p.Asp796Asn					SNX19_ENST00000533214.1_Missense_Mutation_p.D779N|SNX19_ENST00000545537.1_Missense_Mutation_p.D36N|SNX19_ENST00000528555.1_Missense_Mutation_p.D176N|SNX19_ENST00000533318.1_5'UTR|SNX19_ENST00000530356.1_Missense_Mutation_p.D176N|SNX19_ENST00000534726.1_Missense_Mutation_p.D36N|SNX19_ENST00000539184.1_Missense_Mutation_p.D239N	p.D796N	NM_014758.2	NP_055573.2	Q92543	SNX19_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.0195)|Lung(977;0.233)	7	2955	-	all_hematologic(175;0.0597)	Lung NSC(97;0.000272)|all_lung(97;0.000608)|Breast(109;0.000962)|all_neural(223;0.0298)|Medulloblastoma(222;0.0425)	796					E9PKB9|Q8IV55	Missense_Mutation	SNP	ENST00000265909.4	37	c.2386G>A	CCDS31721.1	.	.	.	.	.	.	.	.	.	.	C	19.58	3.854459	0.71719	.	.	ENSG00000120451	ENST00000265909;ENST00000534726;ENST00000545537;ENST00000528555;ENST00000530356;ENST00000539184;ENST00000533214	T;T;T;T;T;T;T	0.59772	0.24;0.24;0.24;0.24;0.24;0.24;0.24	5.61	4.7	0.59300	.	0.654089	0.17191	N	0.183500	T	0.57051	0.2027	M	0.63428	1.95	0.09310	N	1	P;D;P	0.57899	0.787;0.981;0.651	B;P;B	0.45829	0.372;0.494;0.15	T	0.54063	-0.8349	10	0.51188	T	0.08	-15.7736	9.6663	0.39986	0.0:0.8388:0.0:0.1612	.	239;779;796	F5H5D1;E9PKB9;Q92543	.;.;SNX19_HUMAN	N	796;36;36;176;176;239;779	ENSP00000265909:D796N;ENSP00000433699:D36N;ENSP00000437982:D36N;ENSP00000435122:D176N;ENSP00000432307:D176N;ENSP00000443480:D239N;ENSP00000435390:D779N	ENSP00000265909:D796N	D	-	1	0	SNX19	130281115	0.875000	0.30112	0.465000	0.27155	0.064000	0.16182	2.666000	0.46799	1.370000	0.46153	0.655000	0.94253	GAC		0.527	SNX19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385649.1	NM_014758		9	40	0	0	0	1	0	9	40					T	130775905	C	T	130775905	3	4	344	1	0	0	0	0	1	0	0	0	14890	855	30	3	612	3	SNX19	11	130775905	Missense_Mutation	SNP	C	TCGA-KK-A8IH-01A-11D-A364-08		130775905	4230611	20	17406											
GUCY2C	2984	broad.mit.edu	37	chr12	14766078	14766078	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	taggtgctctccttgtctgtGgtattcagctgcaagtattc	6	16	10	9	0	3	0	1	0	2	0	5	0	3	0	1	2	3	5	1	2	4	6			TCGA-KK-A8IH-01A-11D-A364-08	TCGA-KK-A8IH-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1652a02-f1e2-4504-bc26-0bc6d272c104	9aec7505-e824-49cf-a520-b4d090863d67	g.chr12:14766078G>A	ENST00000261170.3	-	27	3331	c.3195C>T	c.(3193-3195)acC>acT	p.T1065T	RP11-695J4.2_ENST00000542401.1_RNA|RP11-695J4.2_ENST00000545424.1_RNA	NM_004963.3	NP_004954.2	P25092	GUC2C_HUMAN	guanylate cyclase 2C (heat stable enterotoxin receptor)	1065					intracellular signal transduction (GO:0035556)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of cell proliferation (GO:0042127)|response to toxic substance (GO:0009636)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|protein kinase activity (GO:0004672)|toxic substance binding (GO:0015643)	p.T1065T(1)		breast(3)|endometrium(7)|kidney(3)|large_intestine(9)|lung(17)|ovary(4)|skin(7)|urinary_tract(1)	51					Linaclotide(DB08890)	CCTTGTCTGTGGTATTCAGCT	0.438																																						ENST00000261170.3																			1	Substitution - coding silent(1)	p.T1065T(1)	lung(1)	breast(3)|endometrium(7)|kidney(3)|large_intestine(9)|lung(17)|ovary(4)|skin(7)|urinary_tract(1)	51						c.(3193-3195)acC>acT		guanylate cyclase 2C (heat stable enterotoxin receptor)							213	208	210					12																	14766078		2203	4300	6503	SO:0001819	synonymous_variant	2984				intracellular signal transduction|receptor guanylyl cyclase signaling pathway	integral to membrane	ATP binding|GTP binding|guanylate cyclase activity|protein binding|protein kinase activity|receptor activity	g.chr12:14766078G>A		CCDS8664.1	12p12	2008-08-18			ENSG00000070019	ENSG00000070019			4688	protein-coding gene	gene with protein product		601330		GUC2C		8661067	Standard	NM_004963		Approved	STAR	uc001rcd.3	P25092	OTTHUMG00000168732	ENST00000261170.3:c.3195C>T	12.37:g.14766078G>A						RP11-695J4.2_ENST00000545424.1_RNA|RP11-695J4.2_ENST00000542401.1_RNA	p.T1065T	NM_004963.3	NP_004954.2	P25092	GUC2C_HUMAN			27	3331	-			1065					B2RMY6	Silent	SNP	ENST00000261170.3	37	c.3195C>T	CCDS8664.1																																																																																				0.438	GUCY2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400835.1			58	98	0	0	0	1	0	58	98					A	14766078	G	A	14766078	2	1	344	1	0	0	0	0	0	0	0	1	6896	1335	47	3		3	GUCY2C	12	14766078	Silent	SNP	G	TCGA-KK-A8IH-01A-11D-A364-08		14766078	119085817	21	17407											
PRKAB1	5564	broad.mit.edu	37	chr12	120110138	120110138	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaggaattcctggcctggcaGcatgatctggaagtgaatga	11	9	14	7	0	1	3	0	3	1	0	2	6	2	5	2	4	1	2	2	4	3	1			TCGA-KK-A8IH-01A-11D-A364-08	TCGA-KK-A8IH-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1652a02-f1e2-4504-bc26-0bc6d272c104	9aec7505-e824-49cf-a520-b4d090863d67	g.chr12:120110138G>A	ENST00000229328.5	+	2	684	c.192G>A	c.(190-192)caG>caA	p.Q64Q	PRKAB1_ENST00000540121.1_5'UTR|PRKAB1_ENST00000541640.1_Silent_p.Q64Q	NM_006253.4	NP_006244.2	Q9Y478	AAKB1_HUMAN	protein kinase, AMP-activated, beta 1 non-catalytic subunit	64					cell cycle arrest (GO:0007050)|fatty acid biosynthetic process (GO:0006633)|insulin receptor signaling pathway (GO:0008286)|membrane organization (GO:0061024)|positive regulation of gene expression (GO:0010628)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of catalytic activity (GO:0050790)|signal transduction (GO:0007165)	AMP-activated protein kinase complex (GO:0031588)|cytosol (GO:0005829)|nucleus (GO:0005634)	protein kinase activity (GO:0004672)			endometrium(2)|large_intestine(3)|lung(5)	10	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.166)	Acetylsalicylic acid(DB00945)|Adenosine monophosphate(DB00131)|Metformin(DB00331)	TGGCCTGGCAGCATGATCTGG	0.512																																						ENST00000229328.5																			0				endometrium(2)|large_intestine(3)|lung(5)	10						c.(190-192)caG>caA		protein kinase, AMP-activated, beta 1 non-catalytic subunit	Adenosine monophosphate(DB00131)|Metformin(DB00331)						126	140	135					12																	120110138		2203	4300	6503	SO:0001819	synonymous_variant	5564				cell cycle arrest|fatty acid biosynthetic process|insulin receptor signaling pathway|regulation of fatty acid oxidation	cytosol		g.chr12:120110138G>A	BC001823	CCDS9191.1	12q24.1-q24.3	2008-05-14			ENSG00000111725	ENSG00000111725			9378	protein-coding gene	gene with protein product	"AMPK beta 1"	602740				8557660	Standard	NM_006253		Approved		uc001txg.3	Q9Y478	OTTHUMG00000168954	ENST00000229328.5:c.192G>A	12.37:g.120110138G>A						PRKAB1_ENST00000541640.1_Silent_p.Q64Q|PRKAB1_ENST00000540121.1_5'UTR	p.Q64Q	NM_006253.4	NP_006244.2	Q9Y478	AAKB1_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.166)	2	684	+	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		64					Q9UBV0|Q9UE20|Q9UEX2|Q9Y6V8	Silent	SNP	ENST00000229328.5	37	c.192G>A	CCDS9191.1																																																																																				0.512	PRKAB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401731.2	NM_006253		4	121	0	0	0	1	0	4	121					A	120110138	G	A	120110138	2	1	344	1	0	0	0	0	0	0	0	1	12495	962	34	3		3	PRKAB1	12	120110138	Silent	SNP	G	TCGA-KK-A8IH-01A-11D-A364-08	105344060	120110138	13741757	22	17408											
CIT	11113	broad.mit.edu	37	chr12	120214536	120214536	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aattcttcagcagcaagccgAgactctctcagctcagattc	11	10	7	13	1	5	2	3	0	2	2	7	3	5	2	1	0	4	3	1	0	2	3			TCGA-KK-A8IH-01A-11D-A364-08	TCGA-KK-A8IH-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1652a02-f1e2-4504-bc26-0bc6d272c104	9aec7505-e824-49cf-a520-b4d090863d67	g.chr12:120214536A>C	ENST00000261833.7	-	14	1828	c.1776T>G	c.(1774-1776)tcT>tcG	p.S592S	CIT_ENST00000392521.2_Silent_p.S592S|CIT_ENST00000537607.1_5'UTR	NM_007174.2	NP_009105.1	O14578	CTRO_HUMAN	citron rho-interacting serine/threonine kinase	592					cytokinesis (GO:0000910)|dendrite development (GO:0016358)|G2/M transition of mitotic cell cycle (GO:0000086)|generation of neurons (GO:0048699)|Golgi organization (GO:0007030)|intracellular signal transduction (GO:0035556)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic nuclear division (GO:0007067)|mitotic sister chromatid segregation (GO:0000070)|negative regulation of dendrite morphogenesis (GO:0050774)|regulation of actin polymerization or depolymerization (GO:0008064)|spermatogenesis (GO:0007283)	actin cytoskeleton (GO:0015629)|Golgi cisterna (GO:0031985)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|vacuole (GO:0005773)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|PDZ domain binding (GO:0030165)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	86	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)		BRCA - Breast invasive adenocarcinoma(302;0.211)		CAGCAAGCCGAGACTCTCTCA	0.468																																						ENST00000392521.2																			0				breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	86						c.(1774-1776)tcT>tcG		citron (rho-interacting, serine/threonine kinase 21)							118	114	115					12																	120214536		2203	4300	6503	SO:0001819	synonymous_variant	11113				intracellular signal transduction		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding|small GTPase regulator activity	g.chr12:120214536A>C	AB023166	CCDS9192.1, CCDS55891.1	12q24.23	2014-04-23	2014-04-23		ENSG00000122966	ENSG00000122966			1985	protein-coding gene	gene with protein product	"serine/threonine kinase 21"	605629	"citron (rho-interacting, serine/threonine kinase 21)"			9792683	Standard	NM_001206999		Approved	KIAA0949, STK21, CRIK	uc001txj.2	O14578	OTTHUMG00000134325	ENST00000261833.7:c.1776T>G	12.37:g.120214536A>C						CIT_ENST00000537607.1_5'UTR|CIT_ENST00000261833.7_Silent_p.S592S	p.S592S	NM_001206999.1	NP_001193928.1	O14578	CTRO_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.211)	14	1831	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)	592					Q2M5E1|Q6XUH8|Q86UQ9|Q9UPZ7	Silent	SNP	ENST00000261833.7	37	c.1776T>G	CCDS9192.1	.	.	.	.	.	.	.	.	.	.	A	10.66	1.412459	0.25465	.	.	ENSG00000122966	ENST00000392520	.	.	.	5.48	3.13	0.36017	.	.	.	.	.	T	0.55737	0.1939	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.46911	-0.9157	4	.	.	.	.	7.1679	0.25702	0.6154:0.0:0.3846:0.0	.	.	.	.	R	220	.	.	L	-	2	0	CIT	118698919	0.983000	0.35010	1.000000	0.80357	0.948000	0.59901	0.106000	0.15354	0.395000	0.25257	0.459000	0.35465	CTC		0.468	CIT-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000259410.4	NM_007174		7	73	0	0	0	1	0	7	73					C	120214536	A	C	120214536	2	2	344	1	0	0	0	0	0	0	0	1	3438	291	11	5		5	CIT	12	120214536	Silent	SNP	A	TCGA-KK-A8IH-01A-11D-A364-08	104398	120214536	13637359	23	17409											
OCA2	4948	broad.mit.edu	37	chr15	28202759	28202759	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaggtgtgcagcctccgggCgagcaggtgctccagtgcca	7	6	16	12	2	0	0	0	0	0	0	2	2	2	0	4	3	5	3	4	3	1	0			TCGA-KK-A8IH-01A-11D-A364-08	TCGA-KK-A8IH-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1652a02-f1e2-4504-bc26-0bc6d272c104	9aec7505-e824-49cf-a520-b4d090863d67	g.chr15:28202759C>T	ENST00000354638.3	-	16	1914	c.1759G>A	c.(1759-1761)Gcc>Acc	p.A587T	OCA2_ENST00000382996.2_Missense_Mutation_p.A587T|OCA2_ENST00000353809.5_Missense_Mutation_p.A563T	NM_000275.2	NP_000266.2	Q04671	P_HUMAN	oculocutaneous albinism II	587					cell proliferation (GO:0008283)|eye pigment biosynthetic process (GO:0006726)|melanin biosynthetic process (GO:0042438)|melanocyte differentiation (GO:0030318)|spermatid development (GO:0007286)|tyrosine transport (GO:0015828)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|melanosome membrane (GO:0033162)	L-tyrosine transmembrane transporter activity (GO:0005302)|transporter activity (GO:0005215)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(48)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234)		all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045)		AGCCTCCGGGCGAGCAGGTGC	0.652									Oculocutaneous Albinism																													ENST00000354638.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(48)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	85						c.(1759-1761)Gcc>Acc		oculocutaneous albinism II							35	38	37					15																	28202759		2195	4277	6472	SO:0001583	missense	4948	Oculocutaneous Albinism	Familial Cancer Database		eye pigment biosynthetic process	endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane|melanosome membrane	arsenite transmembrane transporter activity|citrate transmembrane transporter activity|L-tyrosine transmembrane transporter activity|protein binding	g.chr15:28202759C>T		CCDS10020.1, CCDS73701.1	15q12	2013-01-08	2008-01-30		ENSG00000104044	ENSG00000104044			8101	protein-coding gene	gene with protein product	"melanocyte-specific transporter protein"	611409	"oculocutaneous albinism II (pink-eye dilution (murine) homolog)", "eye color 3 (brown)", "eye color 2 (central brown)", "oculocutaneous albinism II (pink-eye dilution homolog, mouse)"	D15S12, P, EYCL3, EYCL2			Standard	NM_000275		Approved	BEY2, EYCL, BEY, BEY1	uc001zbh.4	Q04671	OTTHUMG00000128871	ENST00000354638.3:c.1759G>A	15.37:g.28202759C>T	ENSP00000346659:p.Ala587Thr					OCA2_ENST00000353809.5_Missense_Mutation_p.A563T|OCA2_ENST00000382996.2_Missense_Mutation_p.A587T	p.A587T	NM_000275.2	NP_000266.2	Q04671	P_HUMAN		all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045)	16	1914	-		all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234)	587					Q15211|Q15212|Q96EN1|Q9UMI5	Missense_Mutation	SNP	ENST00000354638.3	37	c.1759G>A	CCDS10020.1	.	.	.	.	.	.	.	.	.	.	C	13.49	2.252099	0.39797	.	.	ENSG00000104044	ENST00000354638;ENST00000353809;ENST00000382996	D;D;D	0.90504	-2.68;-2.58;-2.61	5.8	4.79	0.61399	Divalent ion symporter (1);	0.230229	0.40818	N	0.001018	D	0.84727	0.5536	N	0.22421	0.69	0.31851	N	0.622234	P;P	0.51147	0.757;0.942	B;P	0.48627	0.248;0.584	D	0.84634	0.0691	10	0.52906	T	0.07	-20.6712	5.4349	0.16476	0.0:0.7725:0.0:0.2275	.	563;587	Q04671-2;Q04671	.;P_HUMAN	T	587;563;587	ENSP00000346659:A587T;ENSP00000261276:A563T;ENSP00000372457:A587T	ENSP00000261276:A563T	A	-	1	0	OCA2	25876354	1.000000	0.71417	0.995000	0.50966	0.245000	0.25701	3.648000	0.54410	2.746000	0.94184	0.591000	0.81541	GCC		0.652	OCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250823.1	NM_000275		16	16	0	0	0	1	0	16	16					T	28202759	C	T	28202759	3	4	344	1	0	0	0	0	1	0	0	0	10815	768	27	1	793	1	OCA2	15	28202759	Missense_Mutation	SNP	C	TCGA-KK-A8IH-01A-11D-A364-08		28202759	74328633	24	17410											
CES1	1066	broad.mit.edu	37	chr16	55866955	55866955	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagagtggccaggataaaggCacggagccacatcgtggaag	13	4	16	8	2	0	1	0	0	0	1	1	5	0	4	2	5	1	1	2	5	3	1			TCGA-KK-A8IH-01A-11D-A364-08	TCGA-KK-A8IH-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1652a02-f1e2-4504-bc26-0bc6d272c104	9aec7505-e824-49cf-a520-b4d090863d67	g.chr16:55866955C>A	ENST00000361503.4	-	1	143	c.13G>T	c.(13-15)Gcc>Tcc	p.A5S	CES1_ENST00000422046.2_Missense_Mutation_p.A5S|CES1_ENST00000360526.3_Missense_Mutation_p.A5S			P23141	EST1_HUMAN	carboxylesterase 1	5				RAFI -> PALV (in Ref. 3; BAA04650, 8; BAC87749/BAC87751, 9; BAF83312/BAF84898 and 11; AAH12418). {ECO:0000305}.	epithelial cell differentiation (GO:0030855)|metabolic process (GO:0008152)|response to toxic substance (GO:0009636)	endoplasmic reticulum (GO:0005783)	carboxylic ester hydrolase activity (GO:0052689)|methylumbelliferyl-acetate deacetylase activity (GO:0047374)								all cancers(182;0.13)|Epithelial(162;0.137)	Benzocaine(DB01086)|Capecitabine(DB01101)|Ciclesonide(DB01410)|Clopidogrel(DB00758)|Cyclandelate(DB04838)|Dabigatran etexilate(DB06695)|Indomethacin(DB00328)|Irinotecan(DB00762)|L-Carnitine(DB00583)|Mycophenolate mofetil(DB00688)|Oseltamivir(DB00198)|Probucol(DB01599)|Rufinamide(DB06201)|Tamoxifen(DB00675)|Trandolapril(DB00519)	AGGATAAAGGCACGGAGCCAC	0.602																																					NSCLC(162;1801 2756 42904 52896)	ENST00000422046.2																			0											c.(13-15)Gcc>Tcc		carboxylesterase 1	Aminoglutethimide(DB00357)|Bezafibrate(DB01393)|Cholestyramine(DB01432)|Moexipril(DB00691)						74	62	66					16																	55866955		2151	4190	6341	SO:0001583	missense	1066				response to toxin	endoplasmic reticulum lumen	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity	g.chr16:55866955C>A	BC012418	CCDS32450.1, CCDS45488.1, CCDS45489.1	16q22.2	2010-10-12	2010-10-12		ENSG00000198848	ENSG00000198848	3.1.1.1	"Carboxylesterases"	1863	protein-coding gene	gene with protein product	"human monocyte/macrophage serine esterase 1"	114835	"carboxylesterase 1 (monocyte/macrophage serine esterase 1)"			2070086, 20931200	Standard	XM_005255774		Approved	HMSE, CES2, HMSE1, SES1, CEH, CES1A1, CES1A2	uc002eil.3	P23141		ENST00000361503.4:c.13G>T	16.37:g.55866955C>A	ENSP00000355193:p.Ala5Ser					CES1_ENST00000361503.4_Missense_Mutation_p.A5S|CES1_ENST00000360526.3_Missense_Mutation_p.A5S	p.A5S			P23141	EST1_HUMAN		all cancers(182;0.13)|Epithelial(162;0.137)	1	294	-			5	RAFI -> PALV (in Ref. 3; BAA04650, 8; BAC87749/BAC87751, 9; BAF83312/BAF84898 and 11; AAH12418).				A6NIM1|A8K3K8|A8K844|E9PAU8|P82127|Q00015|Q13657|Q14062|Q16737|Q16788|Q549X7|Q549X8|Q86UK2|Q96EE8|Q9UC52|Q9UDG8|Q9UK77|Q9ULY2	Missense_Mutation	SNP	ENST00000361503.4	37	c.13G>T	CCDS45488.1	.	.	.	.	.	.	.	.	.	.	.	9.046	0.990987	0.18966	.	.	ENSG00000198848	ENST00000360526;ENST00000361503;ENST00000422046	T;T;T	0.66815	-0.23;-0.23;-0.23	3.81	0.578	0.17391	Carboxylesterase, type B (1);	1.442020	0.04781	N	0.429853	T	0.59542	0.2201	L	0.52364	1.645	0.09310	N	1	B;B;B	0.20368	0.044;0.044;0.02	B;B;B	0.21360	0.034;0.034;0.021	T	0.41980	-0.9478	10	0.37606	T	0.19	.	5.877	0.18834	0.0:0.5127:0.3786:0.1088	.	5;5;5	E9PAU8;P23141;P23141-2	.;EST1_HUMAN;.	S	5	ENSP00000353720:A5S;ENSP00000355193:A5S;ENSP00000390492:A5S	ENSP00000353720:A5S	A	-	1	0	CES1	54424456	0.000000	0.05858	0.000000	0.03702	0.031000	0.12232	-0.521000	0.06245	0.168000	0.19655	0.644000	0.83932	GCC		0.602	CES1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000433285.1	NM_001266		5	11	1	0	0.000602214	1	0.000619927	5	11					A	55866955	C	A	55866955	3	1	344	1	0	0	0	0	1	0	0	0	3269	710	25	5	1749	5	CES1	16	55866955	Missense_Mutation	SNP	C	TCGA-KK-A8IH-01A-11D-A364-08		55866955	34487798	25	17411											
GOT2	2806	broad.mit.edu	37	chr16	58752108	58752108	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catcgtcctcaccttcaccaCtgttgctatttccttccact	6	15	3	17	1	2	0	2	0	0	0	6	0	5	0	5	0	1	2	5	0	1	5			TCGA-KK-A8IH-01A-11D-A364-08	TCGA-KK-A8IH-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1652a02-f1e2-4504-bc26-0bc6d272c104	9aec7505-e824-49cf-a520-b4d090863d67	g.chr16:58752108C>T	ENST00000245206.5	-	6	822	c.694G>A	c.(694-696)Gtg>Atg	p.V232M	GOT2_ENST00000564400.1_5'UTR|GOT2_ENST00000434819.2_Missense_Mutation_p.V189M	NM_002080.2	NP_002071.2	P00505	AATM_HUMAN	glutamic-oxaloacetic transaminase 2, mitochondrial	232					2-oxoglutarate metabolic process (GO:0006103)|4-hydroxyproline catabolic process (GO:0019470)|aspartate biosynthetic process (GO:0006532)|aspartate catabolic process (GO:0006533)|aspartate metabolic process (GO:0006531)|carbohydrate metabolic process (GO:0005975)|cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|fatty acid transport (GO:0015908)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glutamate catabolic process to 2-oxoglutarate (GO:0019551)|glutamate catabolic process to aspartate (GO:0019550)|glutamate metabolic process (GO:0006536)|oxaloacetate metabolic process (GO:0006107)|response to ethanol (GO:0045471)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	kynurenine-oxoglutarate transaminase activity (GO:0016212)|L-aspartate:2-oxoglutarate aminotransferase activity (GO:0004069)|L-phenylalanine:2-oxoglutarate aminotransferase activity (GO:0080130)|poly(A) RNA binding (GO:0044822)|pyridoxal phosphate binding (GO:0030170)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(8)|prostate(2)|skin(1)	22					L-Aspartic Acid(DB00128)	ACCTTCACCACTGTTGCTATT	0.498																																						ENST00000245206.5																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(8)|prostate(2)|skin(1)	22						c.(694-696)Gtg>Atg		glutamic-oxaloacetic transaminase 2, mitochondrial	L-Aspartic Acid(DB00128)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)						140	122	128					16																	58752108		2198	4300	6498	SO:0001583	missense	2806				aspartate catabolic process|fatty acid transport|gluconeogenesis|response to ethanol	mitochondrial matrix|plasma membrane	L-aspartate:2-oxoglutarate aminotransferase activity|protein binding|pyridoxal phosphate binding	g.chr16:58752108C>T		CCDS10801.1, CCDS67045.1	16q21	2013-05-29	2013-05-29		ENSG00000125166	ENSG00000125166	2.6.1.1		4433	protein-coding gene	gene with protein product	"kynurenine aminotransferase IV", "aspartate aminotransferase 2", "aspartate transaminase 2"	138150	"glutamic-oxaloacetic transaminase 2, mitochondrial (aspartate aminotransferase 2)"			17442055	Standard	NM_002080		Approved	mitAAT, KATIV, KAT4	uc002eof.1	P00505	OTTHUMG00000133769	ENST00000245206.5:c.694G>A	16.37:g.58752108C>T	ENSP00000245206:p.Val232Met					GOT2_ENST00000564400.1_5'UTR|GOT2_ENST00000434819.2_Missense_Mutation_p.V189M	p.V232M	NM_002080.2	NP_002071.2	P00505	AATM_HUMAN			6	822	-			232					B4DJA6|E7ERW2|Q53FL3|Q9BWA3	Missense_Mutation	SNP	ENST00000245206.5	37	c.694G>A	CCDS10801.1	.	.	.	.	.	.	.	.	.	.	C	12.48	1.949259	0.34377	.	.	ENSG00000125166	ENST00000245206;ENST00000434819	D;D	0.91521	-2.86;-2.86	5.6	-0.239	0.13050	Aminotransferase, class I/classII (1);Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.408346	0.27027	N	0.021293	D	0.87888	0.6291	M	0.82323	2.585	0.29289	N	0.869477	B;B	0.30211	0.273;0.163	B;B	0.31442	0.13;0.105	T	0.79808	-0.1647	9	.	.	.	-4.0492	5.2808	0.15674	0.285:0.3676:0.284:0.0634	.	189;232	E7ERW2;P00505	.;AATM_HUMAN	M	232;189	ENSP00000245206:V232M;ENSP00000394100:V189M	.	V	-	1	0	GOT2	57309609	0.001000	0.12720	0.419000	0.26584	0.630000	0.37929	-0.822000	0.04448	0.304000	0.22809	-0.314000	0.08810	GTG		0.498	GOT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258289.3			9	55	0	0	0	1	0	9	55					T	58752108	C	T	58752108	3	4	344	1	0	0	0	0	1	0	0	0	6581	565	20	3	618	3	GOT2	16	58752108	Missense_Mutation	SNP	C	TCGA-KK-A8IH-01A-11D-A364-08	2885153	58752108	31602645	26	17412											
KCNG4	93107	broad.mit.edu	37	chr16	84256130	84256130	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccatgtccccgtagcccaccGttgtcatggagatgatggcc	7	9	11	14	2	1	2	1	1	0	1	2	3	2	2	6	2	1	2	6	2	1	2	rs140682724	byFrequency	TCGA-KK-A8IH-01A-11D-A364-08	TCGA-KK-A8IH-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1652a02-f1e2-4504-bc26-0bc6d272c104	9aec7505-e824-49cf-a520-b4d090863d67	g.chr16:84256130G>A	ENST00000308251.4	-	3	1321	c.1253C>T	c.(1252-1254)aCg>aTg	p.T418M		NM_172347.2	NP_758857.1	Q8TDN1	KCNG4_HUMAN	potassium voltage-gated channel, subfamily G, member 4	418					protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	31						GTAGCCCACCGTTGTCATGGA	0.642													G|||	3	0.000599042	0.0015	0	5008	,	,		19172	0.001		0	False		,,,				2504	0					ENST00000308251.4																			0				breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	31						c.(1252-1254)aCg>aTg		potassium voltage-gated channel, subfamily G, member 4		G	MET/THR	10,4390	16.8+/-37.8	0,10,2190	43	40	41		1253	5.6	0.6	16	dbSNP_134	41	3,8597	3.0+/-9.4	0,3,4297	yes	missense	KCNG4	NM_172347.2	81	0,13,6487	AA,AG,GG		0.0349,0.2273,0.1	probably-damaging	418/520	84256130	13,12987	2200	4300	6500	SO:0001583	missense	93107					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr16:84256130G>A	AF348984	CCDS10945.1	16q24.1	2011-07-05			ENSG00000168418	ENSG00000168418		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	19697	protein-coding gene	gene with protein product		607603				12060745, 16382104	Standard	NM_172347		Approved	Kv6.4	uc010voc.2	Q8TDN1	OTTHUMG00000137638	ENST00000308251.4:c.1253C>T	16.37:g.84256130G>A	ENSP00000312129:p.Thr418Met						p.T418M	NM_172347.2	NP_758857.1	Q8TDN1	KCNG4_HUMAN			3	1321	-			418					Q96H24	Missense_Mutation	SNP	ENST00000308251.4	37	c.1253C>T	CCDS10945.1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.499515	0.85176	0.002273	3.49E-4	ENSG00000168418	ENST00000308251	D	0.99239	-5.61	5.61	5.61	0.85477	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99760	0.9903	H	0.99555	4.625	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96905	0.9663	10	0.87932	D	0	.	18.6264	0.91340	0.0:0.0:1.0:0.0	.	418	Q8TDN1	KCNG4_HUMAN	M	418	ENSP00000312129:T418M	ENSP00000312129:T418M	T	-	2	0	KCNG4	82813631	1.000000	0.71417	0.615000	0.29064	0.989000	0.77384	9.869000	0.99810	2.631000	0.89168	0.655000	0.94253	ACG		0.642	KCNG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269079.2	NM_172347		4	37	0	0	0	1	0	4	37					A	84256130	G	A	84256130	3	1	344	1	0	0	0	0	1	0	0	0	8030	1145	40	1	308	1	KCNG4	16	84256130	Missense_Mutation	SNP	G	TCGA-KK-A8IH-01A-11D-A364-08	25504022	84256130	6098623	27	17413											
ZCCHC14	23174	broad.mit.edu	37	chr16	87451282	87451282	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aagggggcggcggagccggcCgggtgctgcccgtggtgctg	3	5	22	11	5	0	0	0	0	0	0	0	1	0	1	3	7	4	2	3	7	1	0			TCGA-KK-A8IH-01A-11D-A364-08	TCGA-KK-A8IH-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1652a02-f1e2-4504-bc26-0bc6d272c104	9aec7505-e824-49cf-a520-b4d090863d67	g.chr16:87451282C>T	ENST00000268616.4	-	8	973	c.756G>A	c.(754-756)ccG>ccA	p.P252P		NM_015144.2	NP_055959.1	Q8WYQ9	ZCH14_HUMAN	zinc finger, CCHC domain containing 14	252							nucleic acid binding (GO:0003676)|phosphatidylinositol binding (GO:0035091)|zinc ion binding (GO:0008270)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	36				BRCA - Breast invasive adenocarcinoma(80;0.0285)		CGGAGCCGGCCGGGTGCTGCC	0.697																																						ENST00000268616.4																			0				breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	36						c.(754-756)ccG>ccA		zinc finger, CCHC domain containing 14							36	43	41					16																	87451282		2198	4298	6496	SO:0001819	synonymous_variant	23174				cell communication		nucleic acid binding|phosphatidylinositol binding|zinc ion binding	g.chr16:87451282C>T	AB011151	CCDS10961.1	16q24.2	2013-01-10			ENSG00000140948	ENSG00000140948		"Zinc fingers, CCHC domain containing", "Sterile alpha motif (SAM) domain containing"	24134	protein-coding gene	gene with protein product						9628581	Standard	XM_005255858		Approved	BDG29, MGC14139	uc002fjz.1	Q8WYQ9	OTTHUMG00000137655	ENST00000268616.4:c.756G>A	16.37:g.87451282C>T							p.P252P	NM_015144.2	NP_055959.1	Q8WYQ9	ZCH14_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0285)	8	973	-			252					D3DUN1|O60324|Q3MJD8|Q9UFP0	Silent	SNP	ENST00000268616.4	37	c.756G>A	CCDS10961.1																																																																																				0.697	ZCCHC14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269107.1	NM_015144		4	23	0	0	0	1	0	4	23					T	87451282	C	T	87451282	2	4	344	1	0	0	0	0	0	0	0	1	17580	639	23	2		2	ZCCHC14	16	87451282	Silent	SNP	C	TCGA-KK-A8IH-01A-11D-A364-08	3195152	87451282	2903471	28	17414											
TRIM37	4591	broad.mit.edu	37	chr17	57140009	57140009	+	Splice_Site	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tctgctctctgacgcaaagtGctaacgaaaaagaaaaccaa	17	7	7	10	2	2	2	0	1	2	1	3	3	2	2	1	0	4	3	1	0	7	1			TCGA-KK-A8IH-01A-11D-A364-08	TCGA-KK-A8IH-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1652a02-f1e2-4504-bc26-0bc6d272c104	9aec7505-e824-49cf-a520-b4d090863d67	g.chr17:57140009G>C	ENST00000262294.7	-	11	1120	c.861C>G	c.(859-861)agC>agG	p.S287R	TRIM37_ENST00000393065.2_Splice_Site_p.S253R|TRIM37_ENST00000393066.3_Splice_Site_p.S287R|TRIM37_ENST00000376149.3_Splice_Site_p.S165R	NM_015294.3	NP_056109.1	O94972	TRI37_HUMAN	tripartite motif containing 37	287	MATH. {ECO:0000255|PROSITE- ProRule:PRU00129}.				aggresome assembly (GO:0070842)|negative regulation of centriole replication (GO:0046600)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein autoubiquitination (GO:0051865)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|peroxisome (GO:0005777)	chromatin binding (GO:0003682)|ligase activity (GO:0016874)|protein homodimerization activity (GO:0042803)|tumor necrosis factor receptor binding (GO:0005164)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(13)|ovary(1)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	Medulloblastoma(34;0.0922)|all_neural(34;0.101)					GACGCAAAGTGCTAACGAAAA	0.383									Mulibrey Nanism																													ENST00000376149.3																			0				breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(13)|ovary(1)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						c.e11-1		tripartite motif containing 37							70	65	67					17																	57140009		2203	4300	6503	SO:0001630	splice_region_variant	4591	Mulibrey Nanism	Familial Cancer Database	Perheentupa syndrome		perinuclear region of cytoplasm|peroxisome	ligase activity|protein binding|zinc ion binding	g.chr17:57140009G>C	AB020705	CCDS32694.1, CCDS45746.1	17q	2014-02-17	2011-01-25	2001-11-30		ENSG00000108395		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	7523	protein-coding gene	gene with protein product	"RING-B-box-coiled-coil protein"	605073	"tripartite motif-containing 37"	MUL		9106536, 10888877	Standard	NM_015294		Approved	KIAA0898, POB1, TEF3	uc002iwy.4	O94972		ENST00000262294.7:c.861-1C>G	17.37:g.57140009G>C						TRIM37_ENST00000262294.7_Splice_Site_p.S287_splice|TRIM37_ENST00000393065.2_Splice_Site_p.S253_splice|TRIM37_ENST00000393066.3_Splice_Site_p.S287_splice	p.S165_splice			O94972	TRI37_HUMAN			11	1304	-	Medulloblastoma(34;0.0922)|all_neural(34;0.101)		287					Q7Z3E6|Q8IYF7|Q8WYF7	Splice_Site	SNP	ENST00000262294.7	37	c.494_splice	CCDS32694.1	.	.	.	.	.	.	.	.	.	.	G	9.061	0.994510	0.19043	.	.	ENSG00000108395	ENST00000393066;ENST00000262294;ENST00000376149;ENST00000393065	T;T;T;T	0.57595	0.39;0.39;0.39;0.39	5.47	1.19	0.21007	TRAF-type (1);TRAF-like (1);MATH (3);	0.000000	0.85682	D	0.000000	T	0.72374	0.3452	M	0.88377	2.95	0.58432	D	0.99999	P;D;P	0.89917	0.849;1.0;0.642	P;D;P	0.85130	0.455;0.997;0.475	T	0.73154	-0.4072	10	0.56958	D	0.05	.	10.0611	0.42275	0.3564:0.0:0.6436:0.0	.	253;165;287	F8WEE6;O94972-2;O94972	.;.;TRI37_HUMAN	R	287;287;165;253	ENSP00000376785:S287R;ENSP00000262294:S287R;ENSP00000365319:S165R;ENSP00000376784:S253R	ENSP00000262294:S287R	S	-	3	2	TRIM37	54494791	1.000000	0.71417	0.992000	0.48379	0.570000	0.35934	1.372000	0.34261	0.271000	0.22005	-0.142000	0.14014	AGC		0.383	TRIM37-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445930.1	NM_015294	Missense_Mutation	3	19	0	0	0	1	0	3	19					C	57140009	G	C	57140009	5	2	344	1	0	0	0	0	0	0	1	0	16508	1333	46	5	2097	5	TRIM37	17	57140009	Splice_Site	SNP	G	TCGA-KK-A8IH-01A-11D-A364-08		57140009	24055201	29	17415											
BIRC5	332	broad.mit.edu	37	chr17	76212836	76212836	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ttggtgaatttttgaaactgGacagagaaagagccaagaac	16	9	11	5	0	0	5	0	2	0	3	0	7	0	6	1	2	3	0	1	2	5	3			TCGA-KK-A8IH-01A-11D-A364-08	TCGA-KK-A8IH-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1652a02-f1e2-4504-bc26-0bc6d272c104	9aec7505-e824-49cf-a520-b4d090863d67	g.chr17:76212836G>T	ENST00000350051.3	+	3	432	c.313G>T	c.(313-315)Gac>Tac	p.D105Y	BIRC5_ENST00000589892.1_3'UTR|BIRC5_ENST00000374948.2_Intron|AC087645.1_ENST00000600484.1_Missense_Mutation_p.S254Y|BIRC5_ENST00000301633.4_Missense_Mutation_p.D128Y|BIRC5_ENST00000592734.1_Intron	NM_001168.2	NP_001159.2	O15392	BIRC5_HUMAN	baculoviral IAP repeat containing 5	105					apoptotic process (GO:0006915)|cell division (GO:0051301)|chromosome segregation (GO:0007059)|cytokinesis (GO:0000910)|establishment of chromosome localization (GO:0051303)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)|positive regulation of exit from mitosis (GO:0031536)|positive regulation of mitotic cell cycle (GO:0045931)|protein complex localization (GO:0031503)|protein phosphorylation (GO:0006468)|spindle checkpoint (GO:0031577)|transcription, DNA-templated (GO:0006351)	centriole (GO:0005814)|chromosome passenger complex (GO:0032133)|chromosome, centromeric region (GO:0000775)|condensed chromosome kinetochore (GO:0000777)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|interphase microtubule organizing center (GO:0031021)|microtubule (GO:0005874)|midbody (GO:0030496)|nuclear chromosome (GO:0000228)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)	chaperone binding (GO:0051087)|cobalt ion binding (GO:0050897)|cofactor binding (GO:0048037)|cysteine-type endopeptidase inhibitor activity (GO:0004869)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|microtubule binding (GO:0008017)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|Ran GTPase binding (GO:0008536)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)			kidney(1)|urinary_tract(1)	2			BRCA - Breast invasive adenocarcinoma(99;0.00269)|OV - Ovarian serous cystadenocarcinoma(97;0.153)			TTTGAAACTGGACAGAGAAAG	0.388																																						ENST00000301633.4																			0				kidney(1)|urinary_tract(1)	2						c.(382-384)Gac>Tac		baculoviral IAP repeat containing 5							65	71	69					17																	76212836		2203	4300	6503	SO:0001583	missense	332				anti-apoptosis|apoptosis|cell division|chromosome segregation|cytokinesis|establishment of chromosome localization|G2/M transition of mitotic cell cycle|mitosis|mitotic prometaphase|positive regulation of exit from mitosis|positive regulation of mitotic cell cycle|protein complex localization|spindle checkpoint	centriole|chromosome passenger complex|chromosome, centromeric region|cytoplasm|cytoplasmic microtubule|cytosol|interphase microtubule organizing center|midbody|nuclear chromosome|spindle|spindle microtubule	caspase inhibitor activity|chaperone binding|cobalt ion binding|cofactor binding|cysteine-type endopeptidase inhibitor activity|metal ion binding|microtubule binding|protein heterodimerization activity|protein homodimerization activity|Ran GTPase binding|zinc ion binding	g.chr17:76212836G>T	U75285	CCDS11755.1, CCDS32751.1, CCDS32752.1	17q25.3	2013-01-17	2011-01-25		ENSG00000089685	ENSG00000089685		"Baculoviral IAP repeat containing"	593	protein-coding gene	gene with protein product	"survivin variant 3 alpha"	603352	"apoptosis inhibitor 4", "baculoviral IAP repeat-containing 5"	API4		8106347, 7947793	Standard	XR_243654		Approved	EPR-1, survivin	uc002jvf.3	O15392		ENST00000350051.3:c.313G>T	17.37:g.76212836G>T	ENSP00000324180:p.Asp105Tyr					AC087645.1_ENST00000600484.1_Missense_Mutation_p.S254Y|BIRC5_ENST00000589892.1_3'UTR|BIRC5_ENST00000374948.2_Intron|BIRC5_ENST00000592734.1_Intron|BIRC5_ENST00000350051.3_Missense_Mutation_p.D105Y	p.D128Y	NM_001012271.1	NP_001012271.1	O15392	BIRC5_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.00269)|OV - Ovarian serous cystadenocarcinoma(97;0.153)		4	513	+			105	A -> V (in Ref. 9; CAG46540).				A2SUH6|B2R4R1|Q2I3N8|Q4VGX0|Q53F61|Q5MGC6|Q6FHL2|Q75SP2|Q9P2W8	Missense_Mutation	SNP	ENST00000350051.3	37	c.382G>T	CCDS11755.1	.	.	.	.	.	.	.	.	.	.	G	18.25	3.583307	0.65992	.	.	ENSG00000089685	ENST00000301633;ENST00000350051;ENST00000432014	T;T	0.03920	3.76;3.76	5.62	4.64	0.57946	Baculoviral inhibition of apoptosis protein repeat (1);	0.150748	0.64402	D	0.000014	T	0.14056	0.0340	M	0.68952	2.095	0.80722	D	1	P;P;D;D	0.64830	0.701;0.856;0.994;0.991	B;B;D;P	0.65443	0.322;0.343;0.935;0.73	T	0.19712	-1.0297	10	0.07813	T	0.8	-18.4279	12.1858	0.54239	0.0836:0.0:0.9164:0.0	.	105;105;128;105	O15392-4;O15392;O15392-2;A3E0Z5	.;BIRC5_HUMAN;.;.	Y	128;105;128	ENSP00000301633:D128Y;ENSP00000324180:D105Y	ENSP00000301633:D128Y	D	+	1	0	BIRC5	73724431	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.798000	0.55522	1.364000	0.46038	0.462000	0.41574	GAC		0.388	BIRC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437231.2	NM_001168		19	40	1	0	3.8784e-16	1	4.5248e-16	19	40					T	76212836	G	T	76212836	3	4	344	1	0	0	0	0	1	0	0	0	1437	1174	41	5	396	5	BIRC5	17	76212836	Missense_Mutation	SNP	G	TCGA-KK-A8IH-01A-11D-A364-08	19072827	76212836	4982374	30	17416											
VAPA	9218	broad.mit.edu	37	chr18	9954142	9954143	+	Frame_Shift_Del	DEL	TC	TC	-																															gataatgtcaccagtcctctTccttcacttcttgttgtaat																										TCGA-KK-A8IH-01A-11D-A364-08	TCGA-KK-A8IH-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1652a02-f1e2-4504-bc26-0bc6d272c104	9aec7505-e824-49cf-a520-b4d090863d67	g.chr18:9954142_9954143delTC	ENST00000400000.2	+	6	939_940	c.684_685delTC	c.(682-687)cttcctfs	p.P229fs	VAPA_ENST00000340541.4_Frame_Shift_Del_p.P274fs	NM_003574.5|NM_194434.2	NP_003565.4|NP_919415.2	Q9P0L0	VAPA_HUMAN	VAMP (vesicle-associated membrane protein)-associated protein A, 33kDa	229					cell death (GO:0008219)|membrane fusion (GO:0061025)|neuron projection development (GO:0031175)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|protein localization to endoplasmic reticulum (GO:0070972)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|microtubule cytoskeleton (GO:0015630)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	protein heterodimerization activity (GO:0046982)|signal transducer activity (GO:0004871)|structural molecule activity (GO:0005198)			breast(1)|lung(2)|prostate(1)	4						CCAGTCCTCTTCCTTCACTTCT	0.391																																						ENST00000400000.2																			0				breast(1)|lung(2)|prostate(1)	4						c.(682-687)ctctfs		VAMP (vesicle-associated membrane protein)-associated protein A, 33kDa																																				SO:0001589	frameshift_variant	9218				cell death|cellular membrane fusion|neuron projection development|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein localization in endoplasmic reticulum|sphingolipid metabolic process	endoplasmic reticulum membrane|integral to membrane|plasma membrane|vesicle	protein heterodimerization activity|signal transducer activity|structural molecule activity	g.chr18:9954142_9954143delTC		CCDS11847.2, CCDS11848.2	18p11.2	2008-07-28	2002-08-29		ENSG00000101558	ENSG00000101558			12648	protein-coding gene	gene with protein product		605703	"VAMP (vesicle-associated membrane protein)-associated protein A (33kD)"			9920726, 9657962	Standard	NM_003574		Approved	hVAP-33, VAP-A	uc002koj.3	Q9P0L0	OTTHUMG00000131603	ENST00000400000.2:c.684_685delTC	18.37:g.9954142_9954143delTC	ENSP00000382880:p.Pro229fs					VAPA_ENST00000340541.4_Frame_Shift_Del_p.LP273fs	p.LP228fs	NM_003574.5|NM_194434.2	NP_003565.4|NP_919415.2	Q9P0L0	VAPA_HUMAN			6	939_940	+			228					A6NDZ0|D3DUI3|O75453|Q5U0E7|Q9UBZ2	Frame_Shift_Del	DEL	ENST00000400000.2	37	c.684_685delTC	CCDS11848.2																																																																																				0.391	VAPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254490.1			11	97						11	97	---	---	---	---	-	9954143	TC	-	9954142	7	5	344	1	0	1	0	1	0	0	0	0	17118	1770	62	0	845	0	VAPA	18	9954142	Frame_Shift_Del	DEL	TC	TCGA-KK-A8IH-01A-11D-A364-08		9954142	68123106	31	17417											
CA11	770	broad.mit.edu	37	chr19	49148883	49148883	+	Frame_Shift_Del	DEL	C	C	-																															ggcgctcagacgagctgcagCccccatccccaggaggcctc																										TCGA-KK-A8IH-01A-11D-A364-08	TCGA-KK-A8IH-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1652a02-f1e2-4504-bc26-0bc6d272c104	9aec7505-e824-49cf-a520-b4d090863d67	g.chr19:49148883delC	ENST00000084798.4	-	1	686	c.7delG	c.(7-9)gctfs	p.A5fs	SEC1P_ENST00000430145.2_RNA	NM_001217.3	NP_001208.2	O75493	CAH11_HUMAN	carbonic anhydrase XI	5						basolateral plasma membrane (GO:0016323)|extracellular region (GO:0005576)				breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)	14		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000103)|all cancers(93;0.000119)|GBM - Glioblastoma multiforme(486;0.00634)|Epithelial(262;0.016)	Zonisamide(DB00909)	CGAGCTGCAGCCCCCATCCCC	0.711																																						ENST00000084798.4																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)	14						c.(7-9)ctfs		carbonic anhydrase XI																																				SO:0001589	frameshift_variant	770					extracellular region		g.chr19:49148883delC	AF067662	CCDS12729.1	19q13.3	2012-07-02			ENSG00000063180	ENSG00000063180		"Carbonic anhydrases"	1370	protein-coding gene	gene with protein product	"CA-RP XI", "carbonic anhydrase-related protein XI", "carbonic anhydrase-related protein 2"	604644				9878252	Standard	XR_243956		Approved	CARP2, CARPX1	uc002pjz.1	O75493		ENST00000084798.4:c.7delG	19.37:g.49148883delC	ENSP00000084798:p.Ala5fs					SEC1P_ENST00000430145.2_RNA	p.A5fs	NM_001217.3	NP_001208.2	O75493	CAH11_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000103)|all cancers(93;0.000119)|GBM - Glioblastoma multiforme(486;0.00634)|Epithelial(262;0.016)	1	686	-		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)	5					O60596|Q6FHI1|Q9UEC4	Frame_Shift_Del	DEL	ENST00000084798.4	37	c.7delG	CCDS12729.1																																																																																				0.711	CA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466172.1	NM_001217		2	4						2	4	---	---	---	---	-	49148883	C	-	49148883	7	5	344	1	0	1	0	1	0	0	0	0	2512	739	26	0	1015	0	CA11	19	49148883	Frame_Shift_Del	DEL	C	TCGA-KK-A8IH-01A-11D-A364-08		49148883	9980100	32	17418											
SIGLEC12	89858	broad.mit.edu	37	chr19	52001535	52001535	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgagccattcctcaaggttGtggatgctgtagagaaagag	11	9	13	8	1	1	2	1	0	0	2	2	5	2	3	3	2	2	3	3	2	3	3			TCGA-KK-A8IH-01A-11D-A364-08	TCGA-KK-A8IH-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1652a02-f1e2-4504-bc26-0bc6d272c104	9aec7505-e824-49cf-a520-b4d090863d67	g.chr19:52001535G>T	ENST00000291707.3	-	5	1197	c.1142C>A	c.(1141-1143)aCa>aAa	p.T381K	SIGLEC12_ENST00000598614.1_Missense_Mutation_p.T263K	NM_053003.2	NP_443729.1	Q96PQ1	SIG12_HUMAN	sialic acid binding Ig-like lectin 12 (gene/pseudogene)	381	Ig-like C2-type 2.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			NS(2)|biliary_tract(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(1)|lung(23)|ovary(4)|prostate(2)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)	61		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.0102)		CCTCAAGGTTGTGGATGCTGT	0.557																																						ENST00000291707.3																			0				NS(2)|biliary_tract(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(1)|lung(23)|ovary(4)|prostate(2)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)	61						c.(1141-1143)aCa>aAa		sialic acid binding Ig-like lectin 12 (gene/pseudogene)							27	23	24					19																	52001535		2201	4298	6499	SO:0001583	missense	89858				cell adhesion	integral to membrane	sugar binding	g.chr19:52001535G>T	AF282256	CCDS12833.1, CCDS59416.1	19q13.41	2013-01-29	2011-06-29	2004-10-20	ENSG00000254521	ENSG00000254521		"Sialic acid binding Ig-like lectins", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	15482	protein-coding gene	gene with protein product		606094	"SIGLEC-like 1", "sialic acid binding Ig-like lectin 12"	SIGLECL1		11409877, 11328818, 21555517	Standard	NM_053003		Approved	SLG, S2V, Siglec-XII, Siglec-12, Siglec-L1	uc002pwx.1	Q96PQ1	OTTHUMG00000165524	ENST00000291707.3:c.1142C>A	19.37:g.52001535G>T	ENSP00000291707:p.Thr381Lys					SIGLEC12_ENST00000598614.1_Missense_Mutation_p.T263K	p.T381K	NM_053003.2	NP_443729.1	Q96PQ1	SIG12_HUMAN		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.0102)	5	1197	-		all_neural(266;0.0199)	381			Ig-like C2-type 2.		Q8IYH7	Missense_Mutation	SNP	ENST00000291707.3	37	c.1142C>A	CCDS12833.1	.	.	.	.	.	.	.	.	.	.	.	0.004	-2.246975	0.00271	.	.	ENSG00000254521	ENST00000291707	T	0.38240	1.15	1.39	-1.74	0.08056	Immunoglobulin-like (1);	0.477412	0.15421	U	0.263248	T	0.12263	0.0298	N	0.05124	-0.11	0.09310	N	1	B;B	0.20988	0.05;0.034	B;B	0.24701	0.055;0.01	T	0.32981	-0.9886	10	0.05721	T	0.95	.	5.346	0.16010	0.0:0.0:0.4117:0.5883	.	381;263	Q96PQ1;Q96PQ1-2	SIG12_HUMAN;.	K	381	ENSP00000291707:T381K	ENSP00000291707:T381K	T	-	2	0	SIGLEC12	56693347	0.000000	0.05858	0.000000	0.03702	0.014000	0.08584	-1.433000	0.02428	-0.322000	0.08615	0.393000	0.25936	ACA		0.557	SIGLEC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384641.2	NM_053003		5	1	1	0	0.000602214	1	0.000619927	5	1					T	52001535	G	T	52001535	3	4	344	1	0	0	0	0	1	0	0	0	14308	1377	48	5	661	5	SIGLEC12	19	52001535	Missense_Mutation	SNP	G	TCGA-KK-A8IH-01A-11D-A364-08	2852652	52001535	7127448	33	17419											
MCM8	84515	broad.mit.edu	37	chr20	5965634	5965639	+	In_Frame_Del	DEL	AGAAAG	AGAAAG	-																															gtttctgagaagccattatcAgaaagactaaaggtataaat																								rs370561271		TCGA-KK-A8IH-01A-11D-A364-08	TCGA-KK-A8IH-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1652a02-f1e2-4504-bc26-0bc6d272c104	9aec7505-e824-49cf-a520-b4d090863d67	g.chr20:5965634_5965639delAGAAAG	ENST00000378896.3	+	15	2318_2323	c.1941_1946delAGAAAG	c.(1939-1947)tcagaaaga>tca	p.ER648del	MCM8_ENST00000265187.4_In_Frame_Del_p.ER632del|MCM8_ENST00000378883.1_In_Frame_Del_p.ER601del|MCM8_ENST00000378886.2_In_Frame_Del_p.ER688del	NM_001281520.1|NM_032485.4|NM_182802.1	NP_001268449.1|NP_115874.3|NP_877954.1	Q9UJA3	MCM8_HUMAN	minichromosome maintenance complex component 8	648					cellular response to DNA damage stimulus (GO:0006974)|DNA replication (GO:0006260)|DNA strand elongation involved in DNA replication (GO:0006271)|double-strand break repair via homologous recombination (GO:0000724)|female gamete generation (GO:0007292)|G1/S transition of mitotic cell cycle (GO:0000082)|male gamete generation (GO:0048232)|mitotic cell cycle (GO:0000278)	MCM8-MCM9 complex (GO:0097362)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	23						AGCCATTATCAGAAAGACTAAAGGTA	0.374																																						ENST00000378896.3																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	23						c.(1939-1947)tca>tc		minichromosome maintenance complex component 8																																				SO:0001651	inframe_deletion	84515				cell cycle checkpoint|DNA strand elongation involved in DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|regulation of transcription, DNA-dependent|S phase of mitotic cell cycle|transcription, DNA-dependent	nucleoplasm	ATP binding|DNA binding|nucleoside-triphosphatase activity	g.chr20:5965634_5965639delAGAAAG	AJ439063	CCDS13094.1, CCDS13095.1, CCDS63226.1, CCDS63227.1	20p12.3	2007-04-04	2007-04-04	2003-07-09	ENSG00000125885	ENSG00000125885			16147	protein-coding gene	gene with protein product	"REC homolog (Drosophila)"	608187	"chromosome 20 open reading frame 154"	C20orf154		12527764	Standard	NM_032485		Approved	MGC4816, MGC12866, MGC119522, MGC119523, dJ967N21.5, REC	uc002wmi.3	Q9UJA3	OTTHUMG00000031822	ENST00000378896.3:c.1941_1946delAGAAAG	20.37:g.5965634_5965639delAGAAAG	ENSP00000368174:p.Glu648_Arg649del					MCM8_ENST00000378883.1_In_Frame_Del_p.SER600del|MCM8_ENST00000378886.2_In_Frame_Del_p.SER687del|MCM8_ENST00000265187.4_In_Frame_Del_p.SER631del	p.SER647del	NM_032485.4|NM_182802.1	NP_115874.3|NP_877954.1	Q9UJA3	MCM8_HUMAN			15	2318_2323	+			647					B2RBG7|D3DW08|E7EQU7|Q495R4|Q495R6|Q495R7|Q86US4|Q969I5	In_Frame_Del	DEL	ENST00000378896.3	37	c.1941_1946delAGAAAG	CCDS13094.1																																																																																				0.374	MCM8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000077900.1	NM_032485		9	26						9	26	---	---	---	---	-	5965639	AGAAAG	-	5965634	7	5	344	1	0	1	0	1	0	0	0	0	9393	175	7	0	1995	0	MCM8	20	5965634	In_Frame_Del	DEL	AGAAAG	TCGA-KK-A8IH-01A-11D-A364-08		5965634	57059886	34	17420											
IL3RA	3563	broad.mit.edu	37	chrX	1499970	1499970	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cctcacatgaaagaccccatCggtgacagcttccaaaacga	14	6	7	14	2	1	3	1	2	0	1	3	4	2	3	4	1	2	1	4	1	3	1			TCGA-KK-A8IH-01A-11D-A364-08	TCGA-KK-A8IH-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1652a02-f1e2-4504-bc26-0bc6d272c104	9aec7505-e824-49cf-a520-b4d090863d67	g.chrX:1499970C>T	ENST00000331035.4	+	11	1384	c.1035C>T	c.(1033-1035)atC>atT	p.I345I	IL3RA_ENST00000381469.2_Silent_p.I267I	NM_001267713.1|NM_002183.3	NP_001254642.1|NP_002174.1	P26951	IL3RA_HUMAN	interleukin 3 receptor, alpha (low affinity)	345					cellular response to interleukin-3 (GO:0036016)|interleukin-3-mediated signaling pathway (GO:0038156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	interleukin-3 receptor activity (GO:0004912)			lung(1)|skin(2)	3		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Sargramostim(DB00020)	AAGACCCCATCGGTGACAGCT	0.567													c|||	2	0.000399361	0.0015	0	5008	,	,		16205	0		0	False		,,,				2504	0					ENST00000331035.4																			0				lung(1)|skin(2)	3						c.(1033-1035)atC>atT		interleukin 3 receptor, alpha (low affinity)	Sargramostim(DB00020)						400	395	396					X																	1499970		2203	4296	6499	SO:0001819	synonymous_variant	3563					integral to membrane|plasma membrane	interleukin-3 receptor activity	g.chrX:1499970C>T	M74782	CCDS14113.1, CCDS59158.1	Xp22.3 and Yp13.3	2008-07-21			ENSG00000185291	ENSG00000185291		"Pseudoautosomal regions / PAR1", "Interleukins and interleukin receptors", "CD molecules"	6012	protein-coding gene	gene with protein product		308385, 430000				1833064	Standard	NM_002183		Approved	CD123	uc004cps.3	P26951	OTTHUMG00000021059	ENST00000331035.4:c.1035C>T	X.37:g.1499970C>T						IL3RA_ENST00000381469.2_Silent_p.I267I	p.I345I	NM_001267713.1|NM_002183.3	NP_001254642.1|NP_002174.1	P26951	IL3RA_HUMAN			11	1384	+		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)	345					A8K3F3|B9VI81|Q5HYQ7|Q5HYQ8|Q9UEH7	Silent	SNP	ENST00000331035.4	37	c.1035C>T	CCDS14113.1																																																																																				0.567	IL3RA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055600.3			89	159	0	0	0	1	0	89	159					T	1499970	C	T	1499970	2	4	344	1	0	0	0	0	0	0	0	1	7695	874	31	2		2	IL3RA	23	1499970	Silent	SNP	C	TCGA-KK-A8IH-01A-11D-A364-08		1499970	153770590	35	17421											
KLHL15	80311	broad.mit.edu	37	chrX	24007025	24007025	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtagtttgcggttttgcagaAcggatgcggcttgacttcat	7	14	13	7	3	1	2	1	1	0	1	1	3	1	3	0	3	4	5	0	3	2	6			TCGA-KK-A8IH-01A-11D-A364-08	TCGA-KK-A8IH-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1652a02-f1e2-4504-bc26-0bc6d272c104	9aec7505-e824-49cf-a520-b4d090863d67	g.chrX:24007025A>G	ENST00000328046.8	-	4	1083	c.828T>C	c.(826-828)cgT>cgC	p.R276R		NM_030624.2	NP_085127.2	Q96M94	KLH15_HUMAN	kelch-like family member 15	276					protein ubiquitination (GO:0016567)					autonomic_ganglia(1)|breast(1)|endometrium(8)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)	22						GTTTTGCAGAACGGATGCGGC	0.433																																						ENST00000328046.8																			0				autonomic_ganglia(1)|breast(1)|endometrium(8)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)	22						c.(826-828)cgT>cgC		kelch-like family member 15							105	98	101					X																	24007025		2203	4300	6503	SO:0001819	synonymous_variant	80311							g.chrX:24007025A>G	AB051464	CCDS35217.1	Xp22.1-p21	2013-01-30	2013-01-30		ENSG00000174010	ENSG00000174010		"Kelch-like", "BTB/POZ domain containing"	29347	protein-coding gene	gene with protein product			"kelch-like 15 (Drosophila)"			11214970, 14702039	Standard	NM_030624		Approved	KIAA1677	uc004dba.4	Q96M94	OTTHUMG00000021261	ENST00000328046.8:c.828T>C	X.37:g.24007025A>G							p.R276R	NM_030624.2	NP_085127.2	Q96M94	KLH15_HUMAN			4	1083	-			276					Q32MN3|Q8NDA3|Q96BM6|Q9C0I6	Silent	SNP	ENST00000328046.8	37	c.828T>C	CCDS35217.1																																																																																				0.433	KLHL15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056078.1	XM_040383		5	86	0	0	0	1	0	5	86					G	24007025	A	G	24007025	2	3	344	1	0	0	0	0	0	0	0	1	8371	30	2	4		4	KLHL15	23	24007025	Silent	SNP	A	TCGA-KK-A8IH-01A-11D-A364-08	22507055	24007025	131263535	36	17422											
MAGEA4	4103	broad.mit.edu	37	chrX	151092403	151092403	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caacccaatgagggttccagCagccaagaagaggaggggcc	13	3	14	11	0	0	3	0	1	0	2	1	4	1	4	4	4	3	2	4	4	4	1			TCGA-KK-A8IH-01A-11D-A364-08	TCGA-KK-A8IH-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1652a02-f1e2-4504-bc26-0bc6d272c104	9aec7505-e824-49cf-a520-b4d090863d67	g.chrX:151092403C>T	ENST00000360243.2	+	3	534	c.267C>T	c.(265-267)agC>agT	p.S89S	MAGEA4_ENST00000370340.3_Silent_p.S89S|MAGEA4_ENST00000276344.2_Silent_p.S89S|MAGEA4_ENST00000393921.1_Silent_p.S89S|MAGEA4_ENST00000393920.1_Silent_p.S89S|MAGEA4_ENST00000370337.4_Silent_p.S89S|MAGEA4_ENST00000370335.1_Silent_p.S89S	NM_001011550.1	NP_001011550.1	P43358	MAGA4_HUMAN	melanoma antigen family A, 4	89										breast(2)|central_nervous_system(4)|endometrium(1)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)	27	Acute lymphoblastic leukemia(192;6.56e-05)					AGGGTTCCAGCAGCCAAGAAG	0.572																																						ENST00000370340.3																			0				breast(2)|central_nervous_system(4)|endometrium(1)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)	27						c.(265-267)agC>agT		melanoma antigen family A, 4							72	67	68					X																	151092403		2203	4299	6502	SO:0001819	synonymous_variant	4103						protein binding	g.chrX:151092403C>T		CCDS14702.1	Xq28	2009-03-13			ENSG00000147381	ENSG00000147381			6802	protein-coding gene	gene with protein product	"melanoma-associated antigen 4", "cancer/testis antigen family 1, member 4"	300175		MAGE4		8575766	Standard	XM_005274677		Approved	MAGE4A, MAGE4B, MAGE-41, MAGE-X2, MGC21336, CT1.4	uc004ffa.3	P43358	OTTHUMG00000024174	ENST00000360243.2:c.267C>T	X.37:g.151092403C>T						MAGEA4_ENST00000393921.1_Silent_p.S89S|MAGEA4_ENST00000370335.1_Silent_p.S89S|MAGEA4_ENST00000276344.2_Silent_p.S89S|MAGEA4_ENST00000393920.1_Silent_p.S89S|MAGEA4_ENST00000360243.2_Silent_p.S89S|MAGEA4_ENST00000370337.4_Silent_p.S89S	p.S89S			P43358	MAGA4_HUMAN			3	534	+	Acute lymphoblastic leukemia(192;6.56e-05)		89					Q14798	Silent	SNP	ENST00000360243.2	37	c.267C>T	CCDS14702.1																																																																																				0.572	MAGEA4-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060898.1	NM_002362		4	32	0	0	0	1	0	4	32					T	151092403	C	T	151092403	2	4	344	1	0	0	0	0	0	0	0	1	9168	709	25	3		3	MAGEA4	23	151092403	Silent	SNP	C	TCGA-KK-A8IH-01A-11D-A364-08	127085378	151092403	4178157	37	17423											
PIK3CD	5293	broad.mit.edu	37	chr1	9784114	9784114	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gtgctgggcattggcgatcgGcacagcgacaacatcatgat	10	8	13	10	3	1	1	1	1	0	0	2	3	1	1	0	3	3	3	0	3	1	1			TCGA-KK-A8II-01A-11D-A364-08	TCGA-KK-A8II-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	008659ce-78a0-4243-8cf4-bbfb8308e993	ff736958-09d1-4cb7-9fa5-5955bde500ff	g.chr1:9784114G>A	ENST00000377346.4	+	21	2877	c.2682G>A	c.(2680-2682)cgG>cgA	p.R894R	PIK3CD_ENST00000536656.1_Silent_p.R918R|PIK3CD_ENST00000361110.2_Silent_p.R918R	NM_005026.3	NP_005017.3	O00329	PK3CD_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta	894	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.				adaptive immune response (GO:0002250)|B cell activation (GO:0042113)|B cell chemotaxis (GO:0035754)|B cell homeostasis (GO:0001782)|B cell receptor signaling pathway (GO:0050853)|cytokine production (GO:0001816)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|mast cell chemotaxis (GO:0002551)|mast cell degranulation (GO:0043303)|mast cell differentiation (GO:0060374)|natural killer cell activation (GO:0030101)|natural killer cell chemotaxis (GO:0035747)|natural killer cell differentiation (GO:0001779)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil chemotaxis (GO:0030593)|neutrophil extravasation (GO:0072672)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|protein phosphorylation (GO:0006468)|respiratory burst involved in defense response (GO:0002679)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|T cell activation (GO:0042110)|T cell chemotaxis (GO:0010818)|T cell differentiation (GO:0030217)|T cell receptor signaling pathway (GO:0050852)	cytosol (GO:0005829)|mast cell granule (GO:0042629)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)			central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(12)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31	all_lung(157;0.222)	all_lung(118;2.44e-05)|Lung NSC(185;4.08e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0231)|Colorectal(212;7.52e-08)|COAD - Colon adenocarcinoma(227;1.78e-05)|Kidney(185;0.000322)|KIRC - Kidney renal clear cell carcinoma(229;0.00114)|BRCA - Breast invasive adenocarcinoma(304;0.0021)|STAD - Stomach adenocarcinoma(132;0.00395)|READ - Rectum adenocarcinoma(331;0.0419)	Caffeine(DB00201)	TTGGCGATCGGCACAGCGACA	0.632																																						ENST00000536656.1																			0				central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(12)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31						c.(2752-2754)cgG>cgA		phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta							181	166	171					1																	9784114		2203	4300	6503	SO:0001819	synonymous_variant	5293				phosphatidylinositol-mediated signaling|protein phosphorylation	phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding	g.chr1:9784114G>A		CCDS104.1	1p36.2	2014-09-17	2012-07-13		ENSG00000171608	ENSG00000171608	2.7.1.153		8977	protein-coding gene	gene with protein product	"phosphatidylinositol 3-kinase, catalytic, delta polypeptide", "phosphoinositide-3-kinase C"	602839	"phosphoinositide-3-kinase, catalytic, delta polypeptide"			9113989, 9455486	Standard	NM_005026		Approved	p110D	uc001aqb.4	O00329	OTTHUMG00000001450	ENST00000377346.4:c.2682G>A	1.37:g.9784114G>A						PIK3CD_ENST00000361110.2_Silent_p.R918R|PIK3CD_ENST00000377346.4_Silent_p.R894R	p.R918R			O00329	PK3CD_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0231)|Colorectal(212;7.52e-08)|COAD - Colon adenocarcinoma(227;1.78e-05)|Kidney(185;0.000322)|KIRC - Kidney renal clear cell carcinoma(229;0.00114)|BRCA - Breast invasive adenocarcinoma(304;0.0021)|STAD - Stomach adenocarcinoma(132;0.00395)|READ - Rectum adenocarcinoma(331;0.0419)	21	2962	+	all_lung(157;0.222)	all_lung(118;2.44e-05)|Lung NSC(185;4.08e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)	894			PI3K/PI4K.		A6NCG0|G1FFP1|O15445|Q5SR49	Silent	SNP	ENST00000377346.4	37	c.2754G>A	CCDS104.1																																																																																				0.632	PIK3CD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004235.1	NM_005026		4	77	0	0	0	1	0	4	77					A	9784114	G	A	9784114	2	1	345	1	0	0	0	0	0	0	0	1	11915	1190	42	3		3	PIK3CD	1	9784114	Silent	SNP	G	TCGA-KK-A8II-01A-11D-A364-08		9784114	239466507	1	17424											
CYP4B1	1580	broad.mit.edu	37	chr1	47279929	47279929	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctgcaggatgagaaggtgcGgaagaagatccagaaccgga	14	4	15	8	2	0	4	0	1	0	4	1	8	1	7	3	4	3	1	3	4	4	0	rs45578838		TCGA-KK-A8II-01A-11D-A364-08	TCGA-KK-A8II-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	008659ce-78a0-4243-8cf4-bbfb8308e993	ff736958-09d1-4cb7-9fa5-5955bde500ff	g.chr1:47279929G>A	ENST00000271153.4	+	7	857	c.821G>A	c.(820-822)cGg>cAg	p.R274Q	CYP4B1_ENST00000371923.4_Missense_Mutation_p.R275Q|CYP4B1_ENST00000371919.4_Missense_Mutation_p.R260Q|CYP4B1_ENST00000452782.2_Missense_Mutation_p.R112Q			P13584	CP4B1_HUMAN	cytochrome P450, family 4, subfamily B, polypeptide 1	274			R -> Q (in dbSNP:rs45578838). {ECO:0000269|Ref.5}.		biphenyl metabolic process (GO:0018879)|exogenous drug catabolic process (GO:0042738)|fluorene metabolic process (GO:0018917)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	aromatase activity (GO:0070330)|drug binding (GO:0008144)|fluorene oxygenase activity (GO:0018585)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxygen binding (GO:0019825)			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	36	Acute lymphoblastic leukemia(166;0.155)				Midazolam(DB00683)|Phenobarbital(DB01174)|Thiamine(DB00152)	GAGAAGGTGCGGAAGAAGATC	0.572													g|||	1	0.000199681	0	0	5008	,	,		19552	0.001		0	False		,,,				2504	0					ENST00000271153.4																			0				NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	36						c.(820-822)cGg>cAg		cytochrome P450, family 4, subfamily B, polypeptide 1							80	81	81					1																	47279929		2203	4300	6503	SO:0001583	missense	1580				xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding	g.chr1:47279929G>A	BC017758	CCDS542.1, CCDS41328.1	1p33	2013-11-11	2003-01-14		ENSG00000142973	ENSG00000142973		"Cytochrome P450s"	2644	protein-coding gene	gene with protein product		124075	"cytochrome P450, subfamily IVB, polypeptide 1"				Standard	NM_000779		Approved		uc001cqn.4	P13584	OTTHUMG00000007984	ENST00000271153.4:c.821G>A	1.37:g.47279929G>A	ENSP00000271153:p.Arg274Gln					CYP4B1_ENST00000371923.4_Missense_Mutation_p.R275Q|CYP4B1_ENST00000371919.4_Missense_Mutation_p.R260Q|CYP4B1_ENST00000452782.2_Missense_Mutation_p.R112Q	p.R274Q			P13584	CP4B1_HUMAN			7	857	+	Acute lymphoblastic leukemia(166;0.155)		274		R -> Q (in dbSNP:rs45578838).			Q1HBI2|Q8TD85|Q8WWF2|Q8WWU9|Q8WWV0	Missense_Mutation	SNP	ENST00000271153.4	37	c.821G>A	CCDS542.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	2.188	-0.386007	0.04966	.	.	ENSG00000142973	ENST00000371923;ENST00000271153;ENST00000371919;ENST00000452782;ENST00000468637	T;T;T;T;T	0.72615	-0.6;-0.53;-0.56;-0.67;0.66	5.58	-11.2	0.00127	.	1.575410	0.02920	N	0.137830	T	0.38585	0.1046	N	0.03324	-0.35	0.09310	N	1	B;B;B;B	0.12013	0.002;0.005;0.001;0.001	B;B;B;B	0.10450	0.003;0.005;0.002;0.003	T	0.18777	-1.0326	10	0.12766	T	0.61	.	8.4461	0.32843	0.5889:0.0:0.1709:0.2403	rs45578838	112;260;275;274	E7EME6;Q8IZB0;P13584-2;P13584	.;.;.;CP4B1_HUMAN	Q	275;274;260;112;111	ENSP00000360991:R275Q;ENSP00000271153:R274Q;ENSP00000360987:R260Q;ENSP00000400413:R112Q;ENSP00000437670:R111Q	ENSP00000271153:R274Q	R	+	2	0	CYP4B1	47052516	0.000000	0.05858	0.001000	0.08648	0.043000	0.13939	-1.683000	0.01934	-2.032000	0.00926	-1.214000	0.01621	CGG		0.572	CYP4B1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000021911.1	NM_000779		9	14	0	0	0	1	0	9	14					A	47279929	G	A	47279929	3	1	345	1	0	0	0	0	1	0	0	0	4185	1116	39	2	850	2	CYP4B1	1	47279929	Missense_Mutation	SNP	G	TCGA-KK-A8II-01A-11D-A364-08	37495815	47279929	201970692	2	17425											
KLHL20	27252	broad.mit.edu	37	chr1	173721044	173721044	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatacagtattcaggaaagaCgtcctcaattaccccaggta	15	9	7	10	1	2	1	2	0	0	1	3	2	3	2	3	2	2	2	3	2	7	5			TCGA-KK-A8II-01A-11D-A364-08	TCGA-KK-A8II-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	008659ce-78a0-4243-8cf4-bbfb8308e993	ff736958-09d1-4cb7-9fa5-5955bde500ff	g.chr1:173721044C>A	ENST00000209884.4	+	4	875	c.739C>A	c.(739-741)Cgt>Agt	p.R247S	KLHL20_ENST00000546011.1_Missense_Mutation_p.R58S	NM_014458.3	NP_055273.2	Q9Y2M5	KLH20_HUMAN	kelch-like family member 20	247	BACK.				cytoskeleton organization (GO:0007010)|Golgi to endosome transport (GO:0006895)|negative regulation of apoptotic process (GO:0043066)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K33-linked ubiquitination (GO:1990390)|protein transport (GO:0015031)|protein ubiquitination (GO:0016567)|response to interferon-alpha (GO:0035455)	actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|PML body (GO:0016605)|trans-Golgi network (GO:0005802)	interferon-gamma binding (GO:0019964)|ubiquitin-protein transferase activity (GO:0004842)			breast(3)|endometrium(6)|kidney(1)|large_intestine(8)|lung(14)|ovary(1)|upper_aerodigestive_tract(1)	34						TCAGGAAAGACGTCCTCAATT	0.443																																					GBM(159;862 2695 6559 23041)	ENST00000209884.4																			0				breast(3)|endometrium(6)|kidney(1)|large_intestine(8)|lung(14)|ovary(1)|upper_aerodigestive_tract(1)	34						c.(739-741)Cgt>Agt		kelch-like family member 20							86	78	81					1																	173721044		2203	4300	6503	SO:0001583	missense	27252				cytoskeleton organization|negative regulation of apoptosis|proteasomal ubiquitin-dependent protein catabolic process|response to interferon-alpha	actin cytoskeleton|cell surface|Cul3-RING ubiquitin ligase complex|Golgi apparatus|perinuclear region of cytoplasm|PML body	actin binding|interferon-gamma binding|ubiquitin-protein ligase activity	g.chr1:173721044C>A	AB026190	CCDS1310.1	1q25.1	2013-01-30	2013-01-30		ENSG00000076321	ENSG00000076321		"Kelch-like", "BTB/POZ domain containing"	25056	protein-coding gene	gene with protein product			"kelch-like 20 (Drosophila)"			14668487, 20389280	Standard	NM_014458		Approved	KLEIP, KHLHX	uc001gjc.3	Q9Y2M5	OTTHUMG00000040548	ENST00000209884.4:c.739C>A	1.37:g.173721044C>A	ENSP00000209884:p.Arg247Ser					KLHL20_ENST00000546011.1_Missense_Mutation_p.R58S	p.R247S	NM_014458.3	NP_055273.2	Q9Y2M5	KLH20_HUMAN			4	875	+			247			BACK.		B3KMA0|B4DUR0|Q5TZF2|Q5ZF45|Q9H457	Missense_Mutation	SNP	ENST00000209884.4	37	c.739C>A	CCDS1310.1	.	.	.	.	.	.	.	.	.	.	C	17.74	3.464570	0.63513	.	.	ENSG00000076321	ENST00000546011;ENST00000209884	T;T	0.68479	-0.33;-0.33	5.38	4.46	0.54185	BTB/Kelch-associated (2);	0.000000	0.85682	D	0.000000	T	0.62429	0.2427	L	0.52011	1.625	0.80722	D	1	P;D	0.60575	0.902;0.988	P;P	0.58013	0.557;0.831	T	0.63585	-0.6604	10	0.38643	T	0.18	.	11.8165	0.52214	0.4363:0.5637:0.0:0.0	.	58;247	B4DUR0;Q9Y2M5	.;KLH20_HUMAN	S	58;247	ENSP00000443121:R58S;ENSP00000209884:R247S	ENSP00000209884:R247S	R	+	1	0	KLHL20	171987667	0.999000	0.42202	0.998000	0.56505	0.996000	0.88848	0.938000	0.28965	1.231000	0.43661	0.591000	0.81541	CGT		0.443	KLHL20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097582.1	NM_014458		13	26	1	0	0.00316338	1	0.00322307	13	26					A	173721044	C	A	173721044	3	1	345	1	0	0	0	0	1	0	0	0	8375	536	19	5	749	5	KLHL20	1	173721044	Missense_Mutation	SNP	C	TCGA-KK-A8II-01A-11D-A364-08	126441115	173721044	75529577	3	17426											
CD34	947	broad.mit.edu	37	chr1	208062058	208062058	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtggggctccagctgcggCgattcatcaggaaatagcca	9	8	13	11	2	2	0	2	0	0	0	3	2	3	1	2	4	3	2	2	4	2	2	rs146542924		TCGA-KK-A8II-01A-11D-A364-08	TCGA-KK-A8II-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	008659ce-78a0-4243-8cf4-bbfb8308e993	ff736958-09d1-4cb7-9fa5-5955bde500ff	g.chr1:208062058C>T	ENST00000310833.7	-	7	1262	c.941G>A	c.(940-942)cGc>cAc	p.R314H	CD34_ENST00000367036.3_Missense_Mutation_p.R156H|CD34_ENST00000537704.1_Missense_Mutation_p.R179H|CD34_ENST00000356522.4_Missense_Mutation_p.R314H|CD34_ENST00000485761.1_5'UTR	NM_001025109.1	NP_001020280.1	P28906	CD34_HUMAN	CD34 molecule	314					cell motility (GO:0048870)|cell proliferation (GO:0008283)|endothelial cell proliferation (GO:0001935)|endothelium development (GO:0003158)|extracellular vesicular exosome assembly (GO:0071971)|glomerular endothelium development (GO:0072011)|glomerular filtration (GO:0003094)|glutamate metabolic process (GO:0006536)|hematopoietic stem cell proliferation (GO:0071425)|hemopoiesis (GO:0030097)|leukocyte migration (GO:0050900)|mesangial cell-matrix adhesion (GO:0035759)|metanephric glomerular mesangial cell differentiation (GO:0072254)|negative regulation of blood coagulation (GO:0030195)|negative regulation of cellular response to heat (GO:1900035)|negative regulation of cellular response to hypoxia (GO:1900038)|negative regulation of gene expression (GO:0010629)|negative regulation of interleukin-2 secretion (GO:1900041)|negative regulation of neuron death (GO:1901215)|negative regulation of nitric oxide biosynthetic process (GO:0045019)|negative regulation of tumor necrosis factor production (GO:0032720)|paracrine signaling (GO:0038001)|positive regulation of angiogenesis (GO:0045766)|positive regulation of gene expression (GO:0010628)|positive regulation of glial cell line-derived neurotrophic factor secretion (GO:1900168)|positive regulation of granulocyte colony-stimulating factor production (GO:0071657)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of odontogenesis (GO:0042482)|positive regulation of transforming growth factor beta production (GO:0071636)|positive regulation of vasculogenesis (GO:2001214)|regulation of blood pressure (GO:0008217)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|stem cell proliferation (GO:0072089)|tissue homeostasis (GO:0001894)|transdifferentiation (GO:0060290)|vascular wound healing (GO:0061042)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|glomerular endothelium fenestra (GO:0036053)|integral component of plasma membrane (GO:0005887)|intercellular bridge (GO:0045171)|lysosome (GO:0005764)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|sulfate binding (GO:0043199)|transcription factor binding (GO:0008134)			kidney(2)|large_intestine(2)|lung(8)|ovary(1)	13						CCAGCTGCGGCGATTCATCAG	0.562																																						ENST00000356522.4																			0				kidney(2)|large_intestine(2)|lung(8)|ovary(1)	13						c.(940-942)cGc>cAc		CD34 molecule		C	HIS/ARG,HIS/ARG	0,4406		0,0,2203	201	218	212		941,941	4.5	1	1	dbSNP_134	212	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	CD34	NM_001025109.1,NM_001773.2	29,29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging	314/386,314/329	208062058	1,13005	2203	4300	6503	SO:0001583	missense	947				cell-cell adhesion|leukocyte migration|regulation of immune response	integral to membrane	carbohydrate binding	g.chr1:208062058C>T	M81104	CCDS31011.1, CCDS31012.1	1q32	2008-02-05	2006-03-28		ENSG00000174059	ENSG00000174059		"CD molecules"	1662	protein-coding gene	gene with protein product		142230	"CD34 antigen"			1370171, 1374051	Standard	NM_001025109		Approved		uc001hgw.1	P28906	OTTHUMG00000036565	ENST00000310833.7:c.941G>A	1.37:g.208062058C>T	ENSP00000310036:p.Arg314His					CD34_ENST00000367036.3_Missense_Mutation_p.R156H|CD34_ENST00000310833.7_Missense_Mutation_p.R314H|CD34_ENST00000485761.1_5'UTR|CD34_ENST00000537704.1_Missense_Mutation_p.R179H	p.R314H	NM_001773.2	NP_001764.1	P28906	CD34_HUMAN			7	1262	-			314					A8K664|Q15970|Q15971|Q5JTA3|Q5JTA4|Q9UJB1	Missense_Mutation	SNP	ENST00000310833.7	37	c.941G>A	CCDS31011.1	.	.	.	.	.	.	.	.	.	.	C	25.1	4.605709	0.87157	0.0	1.16E-4	ENSG00000174059	ENST00000310833;ENST00000356522;ENST00000367036;ENST00000537704;ENST00000367037	T;T;T;T	0.57273	0.41;0.41;0.41;0.41	4.54	4.54	0.55810	.	0.125644	0.56097	D	0.000035	T	0.68247	0.2980	L	0.61036	1.89	0.49483	D	0.999791	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.999;0.998	T	0.71101	-0.4690	10	0.87932	D	0	-10.7555	13.0066	0.58707	0.0:1.0:0.0:0.0	.	179;314;314;156	B4DG27;P28906-2;P28906;Q5JTA5	.;.;CD34_HUMAN;.	H	314;314;156;179;284	ENSP00000310036:R314H;ENSP00000348916:R314H;ENSP00000356003:R156H;ENSP00000442874:R179H	ENSP00000310036:R314H	R	-	2	0	CD34	206128681	0.998000	0.40836	0.991000	0.47740	0.987000	0.75469	3.963000	0.56773	2.524000	0.85096	0.650000	0.86243	CGC		0.562	CD34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088933.1	NM_001773		85	104	0	0	0	1	0	85	104					T	208062058	C	T	208062058	3	4	345	1	0	0	0	0	1	0	0	0	3006	768	27	1	243	1	CD34	1	208062058	Missense_Mutation	SNP	C	TCGA-KK-A8II-01A-11D-A364-08	34341014	208062058	41188563	4	17427											
RAB4A	5867	broad.mit.edu	37	chr1	229431652	229431652	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gctctcctcgtctatgatatCaccaggtaatgccagctccc	8	11	7	15	1	3	1	1	1	2	0	6	1	4	1	4	1	2	3	4	1	3	3			TCGA-KK-A8II-01A-11D-A364-08	TCGA-KK-A8II-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	008659ce-78a0-4243-8cf4-bbfb8308e993	ff736958-09d1-4cb7-9fa5-5955bde500ff	g.chr1:229431652C>T	ENST00000366690.4	+	4	493	c.285C>T	c.(283-285)atC>atT	p.I95I	RAB4A_ENST00000473894.1_3'UTR	NM_004578.2	NP_004569.2	P20338	RAB4A_HUMAN	RAB4A, member RAS oncogene family	95					antigen processing and presentation (GO:0019882)|GTP catabolic process (GO:0006184)|membrane organization (GO:0061024)|regulation of endocytosis (GO:0030100)|small GTPase mediated signal transduction (GO:0007264)	endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|vesicle (GO:0031982)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|protein transporter activity (GO:0008565)			central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|skin(1)	11	Breast(184;0.0858)|Ovarian(103;0.103)	Prostate(94;0.178)				TCTATGATATCACCAGGTAAT	0.562																																					Esophageal Squamous(11;250 603 9619 16563)	ENST00000366690.4																			0				central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|skin(1)	11						c.(283-285)atC>atT		RAB4A, member RAS oncogene family							63	59	60					1																	229431652		2203	4300	6503	SO:0001819	synonymous_variant	5867						GDP binding|GTP binding|GTPase activity	g.chr1:229431652C>T	BC004309	CCDS31050.1, CCDS73046.1	1q42-q43	2014-04-03		2002-02-28	ENSG00000168118	ENSG00000168118		"RAB, member RAS oncogene"	9781	protein-coding gene	gene with protein product		179511		RAB4			Standard	NM_004578		Approved	HRES-1/RAB4	uc001hth.4	P20338	OTTHUMG00000037627	ENST00000366690.4:c.285C>T	1.37:g.229431652C>T						RAB4A_ENST00000473894.1_3'UTR	p.I95I	NM_004578.2	NP_004569.2	P20338	RAB4A_HUMAN			4	493	+	Breast(184;0.0858)|Ovarian(103;0.103)	Prostate(94;0.178)	90					Q5T7P7|Q9BQ44	Silent	SNP	ENST00000366690.4	37	c.285C>T	CCDS31050.1																																																																																				0.562	RAB4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091727.3	NM_004578		16	25	0	0	0	1	0	16	25					T	229431652	C	T	229431652	2	4	345	1	0	0	0	0	0	0	0	1	12946	816	29	3		3	RAB4A	1	229431652	Silent	SNP	C	TCGA-KK-A8II-01A-11D-A364-08	21369594	229431652	19818969	5	17428											
EMILIN1	11117	broad.mit.edu	37	chr2	27305294	27305294	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ccagcctcagcccctccgggCcccagtgaggagctgctgcg	5	5	13	18	2	1	1	1	1	0	0	2	2	2	2	7	2	5	2	7	2	0	0			TCGA-KK-A8II-01A-11D-A364-08	TCGA-KK-A8II-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	008659ce-78a0-4243-8cf4-bbfb8308e993	ff736958-09d1-4cb7-9fa5-5955bde500ff	g.chr2:27305294C>T	ENST00000380320.4	+	4	1354	c.855C>T	c.(853-855)ggC>ggT	p.G285G		NM_007046.3	NP_008977	Q9Y6C2	EMIL1_HUMAN	elastin microfibril interfacer 1	285					cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	collagen trimer (GO:0005581)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix constituent conferring elasticity (GO:0030023)			breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(1)|lung(14)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	26	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ccccTCCGGGCCCCAGTGAGG	0.706																																						ENST00000380320.4																			0				breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(1)|lung(14)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	26						c.(853-855)ggC>ggT		elastin microfibril interfacer 1							6	7	7					2																	27305294		2081	4097	6178	SO:0001819	synonymous_variant	11117				cell adhesion	collagen		g.chr2:27305294C>T	AF088916	CCDS1733.1	2p23.3-p23.2	2008-02-05			ENSG00000138080	ENSG00000138080		"EMI domain containing"	19880	protein-coding gene	gene with protein product		130660					Standard	NM_007046		Approved	DKFZp586M121, gp115	uc002rii.4	Q9Y6C2	OTTHUMG00000097069	ENST00000380320.4:c.855C>T	2.37:g.27305294C>T							p.G285G	NM_007046.3	NP_008977.1	Q9Y6C2	EMIL1_HUMAN			4	1354	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		285					A5PL03|H0Y7A0|Q53SY9|Q96G58|Q96IH6|Q9UG76	Silent	SNP	ENST00000380320.4	37	c.855C>T	CCDS1733.1																																																																																				0.706	EMILIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214185.1	NM_007046		3	3	0	0	0	1	0	3	3					T	27305294	C	T	27305294	2	4	345	1	0	0	0	0	0	0	0	1	5093	726	26	3		3	EMILIN1	2	27305294	Silent	SNP	C	TCGA-KK-A8II-01A-11D-A364-08		27305294	215894079	6	17429											
TMEM178	130733	broad.mit.edu	37	chr2	39893142	39893142	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcgggcgctcgtcacggcgCtcagcctcggcctcagcctg	3	6	14	18	7	3	0	3	0	0	0	5	0	3	0	3	3	2	2	3	3	0	0			TCGA-KK-A8II-01A-11D-A364-08	TCGA-KK-A8II-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	008659ce-78a0-4243-8cf4-bbfb8308e993	ff736958-09d1-4cb7-9fa5-5955bde500ff	g.chr2:39893142C>T	ENST00000281961.2	+	1	84	c.28C>T	c.(28-30)Ctc>Ttc	p.L10F	AC007246.3_ENST00000415640.1_RNA|TMEM178A_ENST00000482239.1_Intron	NM_152390.2	NP_689603.2	Q8NBL3	T178A_HUMAN	transmembrane protein 178A	10						integral component of membrane (GO:0016021)											CGTCACGGCGCTCAGCCTCGG	0.731																																						ENST00000281961.2																			0											c.(28-30)Ctc>Ttc		transmembrane protein 178A							6	7	7					2																	39893142		1955	4078	6033	SO:0001583	missense	130733							g.chr2:39893142C>T	BC029530	CCDS1804.1	2p22.1	2012-06-29	2012-06-29	2012-06-29	ENSG00000152154	ENSG00000152154			28517	protein-coding gene	gene with protein product			"transmembrane protein 178"	TMEM178		12975309	Standard	NM_001167959		Approved	MGC33926	uc002rrt.3	Q8NBL3	OTTHUMG00000128591	ENST00000281961.2:c.28C>T	2.37:g.39893142C>T	ENSP00000281961:p.Leu10Phe					TMEM178A_ENST00000482239.1_Intron	p.L10F	NM_152390.2	NP_689603.2					1	84	+								Q6UWI6|Q8N6N4	Missense_Mutation	SNP	ENST00000281961.2	37	c.28C>T	CCDS1804.1	.	.	.	.	.	.	.	.	.	.	C	14.07	2.426733	0.43020	.	.	ENSG00000152154	ENST00000281961;ENST00000378734	T	0.45668	0.89	3.44	2.48	0.30137	.	0.511438	0.18334	N	0.144386	T	0.19208	0.0461	N	0.08118	0	0.27037	N	0.964109	P;P	0.37548	0.599;0.464	B;B	0.36885	0.235;0.083	T	0.09378	-1.0677	9	.	.	.	-2.2249	6.0262	0.19656	0.2039:0.4872:0.3089:0.0	.	10;10	Q8NBL3-2;Q8NBL3	.;TM178_HUMAN	F	10	ENSP00000281961:L10F	.	L	+	1	0	TMEM178	39746646	1.000000	0.71417	1.000000	0.80357	0.894000	0.52154	1.181000	0.32017	0.489000	0.27749	0.305000	0.20034	CTC		0.731	TMEM178A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250445.2	NM_152390		7	7	0	0	0	1	0	7	7					T	39893142	C	T	39893142	3	4	345	1	0	0	0	0	1	0	0	0	16092	797	28	3	30	3	TMEM178	2	39893142	Missense_Mutation	SNP	C	TCGA-KK-A8II-01A-11D-A364-08	12587848	39893142	203306231	7	17430											
EPAS1	2034	broad.mit.edu	37	chr2	46607543	46607543	+	Frame_Shift_Del	DEL	G	G	-																															tccagccactggcccctgtaGccccgcacagtcccttcctc																										TCGA-KK-A8II-01A-11D-A364-08	TCGA-KK-A8II-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	008659ce-78a0-4243-8cf4-bbfb8308e993	ff736958-09d1-4cb7-9fa5-5955bde500ff	g.chr2:46607543delG	ENST00000263734.3	+	12	2242	c.1732delG	c.(1732-1734)gccfs	p.A578fs		NM_001430.4	NP_001421.2	Q99814	EPAS1_HUMAN	endothelial PAS domain protein 1	578					angiogenesis (GO:0001525)|blood vessel remodeling (GO:0001974)|cell maturation (GO:0048469)|cellular response to hypoxia (GO:0071456)|embryonic placenta development (GO:0001892)|erythrocyte differentiation (GO:0030218)|lung development (GO:0030324)|mitochondrion organization (GO:0007005)|myoblast fate commitment (GO:0048625)|norepinephrine metabolic process (GO:0042415)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of heart rate (GO:0002027)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0043619)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|surfactant homeostasis (GO:0043129)|transcription from RNA polymerase II promoter (GO:0006366)|visual perception (GO:0007601)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|histone acetyltransferase binding (GO:0035035)|protein heterodimerization activity (GO:0046982)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|signal transducer activity (GO:0004871)|transcription factor binding (GO:0008134)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	LUSC - Lung squamous cell carcinoma(58;0.151)			GGCCCCTGTAGCCCCGCACAG	0.607																																						ENST00000263734.3																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						c.(1732-1734)ccfs		endothelial PAS domain protein 1							66	76	73					2																	46607543		2203	4300	6503	SO:0001589	frameshift_variant	2034				angiogenesis|myoblast cell fate commitment|positive regulation of transcription from RNA polymerase II promoter|response to hypoxia	transcription factor complex	histone acetyltransferase binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|signal transducer activity|transcription coactivator activity|transcription factor binding	g.chr2:46607543delG	U81984	CCDS1825.1	2p21-p16	2013-05-21			ENSG00000116016	ENSG00000116016		"Basic helix-loop-helix proteins"	3374	protein-coding gene	gene with protein product	"HIF-1 alpha-like factor"	603349				9000051, 9079689, 18378852	Standard	NM_001430		Approved	MOP2, PASD2, HIF2A, HLF, bHLHe73	uc002ruv.3	Q99814	OTTHUMG00000128818	ENST00000263734.3:c.1732delG	2.37:g.46607543delG	ENSP00000263734:p.Ala578fs						p.A578fs	NM_001430.4	NP_001421.2	Q99814	EPAS1_HUMAN	LUSC - Lung squamous cell carcinoma(58;0.151)		12	2242	+		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	578					Q86VA2|Q99630	Frame_Shift_Del	DEL	ENST00000263734.3	37	c.1732delG	CCDS1825.1																																																																																				0.607	EPAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250752.2	NM_001430		18	23						18	23	---	---	---	---	-	46607543	G	-	46607543	7	5	345	1	0	1	0	1	0	0	0	0	5150	971	34	0	1778	0	EPAS1	2	46607543	Frame_Shift_Del	DEL	G	TCGA-KK-A8II-01A-11D-A364-08	6714401	46607543	196591830	8	17431											
BZW1	9689	broad.mit.edu	37	chr2	201684815	201684815	+	Frame_Shift_Del	DEL	C	C	-																															attcatttcatgaaagccttCcagaaaatagtggtgctttt																										TCGA-KK-A8II-01A-11D-A364-08	TCGA-KK-A8II-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	008659ce-78a0-4243-8cf4-bbfb8308e993	ff736958-09d1-4cb7-9fa5-5955bde500ff	g.chr2:201684815delC	ENST00000409600.1	+	10	1532	c.1077delC	c.(1075-1077)ttcfs	p.F359fs	BZW1_ENST00000452790.2_Frame_Shift_Del_p.F391fs|BZW1_ENST00000409226.1_Frame_Shift_Del_p.F363fs	NM_001207067.1|NM_014670.3	NP_001193996.1|NP_055485.2	Q7L1Q6	BZW1_HUMAN	basic leucine zipper and W2 domains 1	359	W2. {ECO:0000255|PROSITE- ProRule:PRU00695}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)			breast(1)|kidney(2)|large_intestine(1)|lung(2)	6						TGAAAGCCTTCCAGAAAATAG	0.318																																						ENST00000409600.1																			0				breast(1)|kidney(2)|large_intestine(1)|lung(2)	6						c.(1075-1077)ttfs		basic leucine zipper and W2 domains 1							32	27	29					2																	201684815		1795	4059	5854	SO:0001589	frameshift_variant	9689				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm	protein binding	g.chr2:201684815delC	D13630	CCDS56154.1, CCDS56155.1, CCDS56156.1	2q33	2010-04-09			ENSG00000082153	ENSG00000082153			18380	protein-coding gene	gene with protein product						10964520, 11524015	Standard	NM_001207067		Approved	BZAP45, KIAA0005	uc021vus.1	Q7L1Q6	OTTHUMG00000154560	ENST00000409600.1:c.1077delC	2.37:g.201684815delC	ENSP00000386474:p.Phe359fs					BZW1_ENST00000409226.1_Frame_Shift_Del_p.F363fs|BZW1_ENST00000452790.2_Frame_Shift_Del_p.F391fs	p.F359fs	NM_001207067.1|NM_014670.3	NP_001193996.1|NP_055485.2	Q7L1Q6	BZW1_HUMAN			10	1532	+			359			W2.		B4DLZ8|B4DWF7|Q14281|Q15394|Q9BUY0	Frame_Shift_Del	DEL	ENST00000409600.1	37	c.1077delC	CCDS56156.1																																																																																				0.318	BZW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335975.1	NM_014670		2	4						2	4	---	---	---	---	-	201684815	C	-	201684815	7	5	345	1	0	1	0	1	0	0	0	0	1578	854	30	0	913	0	BZW1	2	201684815	Frame_Shift_Del	DEL	C	TCGA-KK-A8II-01A-11D-A364-08	155077272	201684815	41514558	9	17432											
GOLGA4	2803	broad.mit.edu	37	chr3	37367122	37367122	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aaactaatgccattctttctAggatttctcattgtcagcac	11	15	5	10	0	4	0	2	0	3	0	5	1	4	1	1	1	3	1	1	1	3	6			TCGA-KK-A8II-01A-11D-A364-08	TCGA-KK-A8II-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	008659ce-78a0-4243-8cf4-bbfb8308e993	ff736958-09d1-4cb7-9fa5-5955bde500ff	g.chr3:37367122A>G	ENST00000361924.2	+	14	4119	c.3745A>G	c.(3745-3747)Agg>Ggg	p.R1249G	GOLGA4_ENST00000444882.1_Intron|GOLGA4_ENST00000356847.4_Missense_Mutation_p.R1271G	NM_002078.4	NP_002069.2	Q13439	GOGA4_HUMAN	golgin A4	1249	Glu-rich.				Golgi to plasma membrane protein transport (GO:0043001)|protein targeting to Golgi (GO:0000042)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	GTPase binding (GO:0051020)			NS(2)|breast(3)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(17)|liver(2)|lung(16)|ovary(4)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						CATTCTTTCTAGGATTTCTCA	0.348																																						ENST00000361924.2																			0				NS(2)|breast(3)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(17)|liver(2)|lung(16)|ovary(4)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						c.(3745-3747)Agg>Ggg		golgin A4							90	93	92					3																	37367122		2203	4299	6502	SO:0001583	missense	2803				Golgi to plasma membrane protein transport	Golgi membrane|trans-Golgi network	protein binding	g.chr3:37367122A>G	U31906	CCDS2666.1, CCDS54564.1	3p22-p21.3	2010-02-12	2010-02-12		ENSG00000144674	ENSG00000144674			4427	protein-coding gene	gene with protein product	"golgin 245"	602509	"golgi autoantigen, golgin subfamily a, 4"			8626529	Standard	NM_002078		Approved	GOLG, GCP2, p230, golgin-240	uc003cgw.3	Q13439	OTTHUMG00000130799	ENST00000361924.2:c.3745A>G	3.37:g.37367122A>G	ENSP00000354486:p.Arg1249Gly					GOLGA4_ENST00000444882.1_Intron|GOLGA4_ENST00000356847.4_Missense_Mutation_p.R1271G	p.R1249G	NM_002078.4	NP_002069.2	Q13439	GOGA4_HUMAN			14	4119	+			1249			Glu-rich.		F8W8Q7|Q13270|Q13654|Q14436|Q59EW8	Missense_Mutation	SNP	ENST00000361924.2	37	c.3745A>G	CCDS2666.1	.	.	.	.	.	.	.	.	.	.	A	17.09	3.300451	0.60195	.	.	ENSG00000144674	ENST00000361924;ENST00000356847;ENST00000437131	T;T;T	0.27890	1.65;1.64;1.65	5.53	4.34	0.51931	.	0.000000	0.40222	N	0.001147	T	0.41719	0.1171	L	0.32530	0.975	0.30405	N	0.779633	D;D;D;D	0.89917	1.0;1.0;1.0;0.993	D;D;D;P	0.83275	0.996;0.996;0.996;0.738	T	0.36383	-0.9750	10	0.27785	T	0.31	.	12.5727	0.56347	0.861:0.139:0.0:0.0	.	1249;1249;1271;1249	Q13439-3;Q13439-4;F8W8Q7;Q13439	.;.;.;GOGA4_HUMAN	G	1249;1271;1120	ENSP00000354486:R1249G;ENSP00000349305:R1271G;ENSP00000405842:R1120G	ENSP00000349305:R1271G	R	+	1	2	GOLGA4	37342126	1.000000	0.71417	0.906000	0.35671	0.988000	0.76386	4.841000	0.62824	0.898000	0.36418	0.460000	0.39030	AGG		0.348	GOLGA4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253339.2	NM_002078		30	46	0	0	0	1	0	30	46					G	37367122	A	G	37367122	3	3	345	1	0	0	0	0	1	0	0	0	6555	411	15	4	3869	4	GOLGA4	3	37367122	Missense_Mutation	SNP	A	TCGA-KK-A8II-01A-11D-A364-08		37367122	160655308	10	17433											
TFG	10342	broad.mit.edu	37	chr3	100447586	100447586	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccaagaccccttgaatcaaGtcaggtgaaatatctccgtc	12	9	8	12	1	3	3	2	2	1	1	5	3	3	3	4	1	0	0	4	1	5	2	rs77118429	byFrequency	TCGA-KK-A8II-01A-11D-A364-08	TCGA-KK-A8II-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	008659ce-78a0-4243-8cf4-bbfb8308e993	ff736958-09d1-4cb7-9fa5-5955bde500ff	g.chr3:100447586G>C	ENST00000240851.4	+	4	639	c.299G>C	c.(298-300)aGt>aCt	p.S100T	TFG_ENST00000476228.1_Missense_Mutation_p.S100T|TFG_ENST00000418917.2_Missense_Mutation_p.S100T|TFG_ENST00000490574.1_Missense_Mutation_p.S100T	NM_001195478.1|NM_001195479.1|NM_006070.5	NP_001182407.1|NP_001182408.1|NP_006061.2	Q92734	TFG_HUMAN	TRK-fused gene	100					cell death (GO:0008219)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	signal transducer activity (GO:0004871)		TFG/NR4A3(2)|TFG/NTRK1_ENST00000392302(5)|TFG/ALK(9)	large_intestine(4)|lung(2)|prostate(1)|stomach(1)	8						CTTGAATCAAGTCAGGTGAAA	0.368			T	"NTRK1, ALK"	"papillary thyroid, ALCL, NSCLC"																																	ENST00000240851.4				Dom	yes		3	3q11-q12	10342	T	TRK-fused gene			"E, L"	"NTRK1, ALK"		"papillary thyroid, ALCL, NSCLC"	TFG/NR4A3(2)|TFG/NTRK1_ENST00000392302(5)|TFG/ALK(9)	0				large_intestine(4)|lung(2)|prostate(1)|stomach(1)	8						c.(298-300)aGt>aCt		TRK-fused gene							69	70	70					3																	100447586		2203	4300	6503	SO:0001583	missense	10342				positive regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm	signal transducer activity	g.chr3:100447586G>C	BC009241	CCDS2939.1, CCDS56266.1	3q12.2	2013-03-13	2001-12-04		ENSG00000114354	ENSG00000114354			11758	protein-coding gene	gene with protein product		602498				9169129, 23479643	Standard	NM_001007565		Approved	TF6, FLJ36137, SPG57	uc003dui.3	Q92734	OTTHUMG00000159085	ENST00000240851.4:c.299G>C	3.37:g.100447586G>C	ENSP00000240851:p.Ser100Thr					TFG_ENST00000490574.1_Missense_Mutation_p.S100T|TFG_ENST00000418917.2_Missense_Mutation_p.S100T|TFG_ENST00000476228.1_Missense_Mutation_p.S100T	p.S100T	NM_001195478.1|NM_001195479.1|NM_006070.5	NP_001182407.1|NP_001182408.1|NP_006061.2	Q92734	TFG_HUMAN			4	639	+			100					D3DN49|G5E9V1|Q15656|Q969I2	Missense_Mutation	SNP	ENST00000240851.4	37	c.299G>C	CCDS2939.1	.	.	.	.	.	.	.	.	.	.	G	14.13	2.443292	0.43429	.	.	ENSG00000114354	ENST00000418917;ENST00000490574;ENST00000240851;ENST00000479672;ENST00000476228;ENST00000443578;ENST00000463568;ENST00000487505	T;T;T;T;T;T;T	0.40225	1.04;1.04;1.04;1.04;1.04;1.04;1.04	5.05	5.05	0.67936	.	0.202993	0.64402	D	0.000012	T	0.29061	0.0722	L	0.55481	1.735	0.42527	D	0.993022	P;P	0.37330	0.59;0.455	B;B	0.29176	0.099;0.068	T	0.10823	-1.0613	10	0.06494	T	0.89	-12.0634	10.1066	0.42537	0.1258:0.0:0.8742:0.0	.	100;100	G5E9V1;Q92734	.;TFG_HUMAN	T	100	ENSP00000397182:S100T;ENSP00000419960:S100T;ENSP00000240851:S100T;ENSP00000419559:S100T;ENSP00000417952:S100T;ENSP00000419504:S100T;ENSP00000420797:S100T	ENSP00000240851:S100T	S	+	2	0	TFG	101930276	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.664000	0.54525	2.470000	0.83445	0.655000	0.94253	AGT		0.368	TFG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353242.1	NM_006070		45	40	0	0	0	1	0	45	40					C	100447586	G	C	100447586	3	2	345	1	0	0	0	0	1	0	0	0	15803	1029	36	5	309	5	TFG	3	100447586	Missense_Mutation	SNP	G	TCGA-KK-A8II-01A-11D-A364-08	63080464	100447586	97574844	11	17434											
ARHGAP31	57514	broad.mit.edu	37	chr3	119134361	119134361	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tccttcatggtcaaaatgtgCcaggccagggcggtcccagt	8	9	12	12	1	2	0	2	0	0	0	4	0	4	0	4	4	1	0	4	4	2	1			TCGA-KK-A8II-01A-11D-A364-08	TCGA-KK-A8II-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	008659ce-78a0-4243-8cf4-bbfb8308e993	ff736958-09d1-4cb7-9fa5-5955bde500ff	g.chr3:119134361C>T	ENST00000264245.4	+	12	4117	c.3585C>T	c.(3583-3585)tgC>tgT	p.C1195C		NM_020754.2	NP_065805.2	Q2M1Z3	RHG31_HUMAN	Rho GTPase activating protein 31	1195					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell junction (GO:0030054)|cytosol (GO:0005829)|lamellipodium (GO:0030027)	GTPase activator activity (GO:0005096)			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(3)|large_intestine(11)|lung(29)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	67						TCAAAATGTGCCAGGCCAGGG	0.587																																					Pancreas(7;176 297 5394 51128 51241)	ENST00000264245.4																			0				breast(5)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(3)|large_intestine(11)|lung(29)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	67						c.(3583-3585)tgC>tgT		Rho GTPase activating protein 31							52	57	56					3																	119134361		2036	4190	6226	SO:0001819	synonymous_variant	57514				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion|lamellipodium	GTPase activator activity	g.chr3:119134361C>T		CCDS43135.1	3q13.33	2011-06-29			ENSG00000031081	ENSG00000031081		"Rho GTPase activating proteins"	29216	protein-coding gene	gene with protein product		610911				9786927, 12819203, 16519628	Standard	NM_020754		Approved	CDGAP	uc003ecj.4	Q2M1Z3	OTTHUMG00000159362	ENST00000264245.4:c.3585C>T	3.37:g.119134361C>T							p.C1195C	NM_020754.2	NP_065805.2	Q2M1Z3	RHG31_HUMAN			12	4117	+			1195					Q9ULL6	Silent	SNP	ENST00000264245.4	37	c.3585C>T	CCDS43135.1																																																																																				0.587	ARHGAP31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354942.2			3	35	0	0	0	1	0	3	35					T	119134361	C	T	119134361	2	4	345	1	0	0	0	0	0	0	0	1	880	747	26	3		3	ARHGAP31	3	119134361	Silent	SNP	C	TCGA-KK-A8II-01A-11D-A364-08	18686775	119134361	78888069	12	17435											
MCCC1	56922	broad.mit.edu	37	chr3	182756832	182756832	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acattgtactgacgaaggctGtacctcagttttgtcaatgc	10	13	9	9	1	2	1	2	1	0	0	2	2	2	1	1	1	3	4	1	1	4	5			TCGA-KK-A8II-01A-11D-A364-08	TCGA-KK-A8II-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	008659ce-78a0-4243-8cf4-bbfb8308e993	ff736958-09d1-4cb7-9fa5-5955bde500ff	g.chr3:182756832G>T	ENST00000265594.4	-	12	1505	c.1359C>A	c.(1357-1359)taC>taA	p.Y453*	MCCC1_ENST00000489909.1_5'Flank|MCCC1_ENST00000539926.1_Nonsense_Mutation_p.Y318*|MCCC1_ENST00000492597.1_Nonsense_Mutation_p.Y344*	NM_020166.3	NP_064551.3	Q96RQ3	MCCA_HUMAN	methylcrotonoyl-CoA carboxylase 1 (alpha)	453	Biotin carboxylation.				biotin metabolic process (GO:0006768)|branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|leucine catabolic process (GO:0006552)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin carboxylase activity (GO:0004075)|metal ion binding (GO:0046872)|methylcrotonoyl-CoA carboxylase activity (GO:0004485)			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(17)|ovary(1)|pancreas(2)|prostate(1)|skin(2)	40	all_cancers(143;1.84e-14)|Ovarian(172;0.0355)		all cancers(12;1.8e-44)|Epithelial(37;3.23e-38)|LUSC - Lung squamous cell carcinoma(7;5.04e-25)|Lung(8;5.03e-23)|OV - Ovarian serous cystadenocarcinoma(80;5.07e-21)		Biotin(DB00121)	GACGAAGGCTGTACCTCAGTT	0.527																																						ENST00000492597.1																			0				central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(17)|ovary(1)|pancreas(2)|prostate(1)|skin(2)	40						c.(1030-1032)taC>taA		methylcrotonoyl-CoA carboxylase 1 (alpha)	Biotin(DB00121)						140	114	122					3																	182756832		2203	4300	6503	SO:0001587	stop_gained	56922				biotin metabolic process|leucine catabolic process	mitochondrial inner membrane|mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|metal ion binding|methylcrotonoyl-CoA carboxylase activity	g.chr3:182756832G>T	AF310972	CCDS3241.1	3q27.1	2010-04-30	2010-04-30		ENSG00000078070	ENSG00000078070	6.4.1.4		6936	protein-coding gene	gene with protein product		609010	"methylcrotonoyl-Coenzyme A carboxylase 1 (alpha)"			11170888	Standard	XR_241502		Approved	MCCA	uc003fle.3	Q96RQ3	OTTHUMG00000158355	ENST00000265594.4:c.1359C>A	3.37:g.182756832G>T	ENSP00000265594:p.Tyr453*					MCCC1_ENST00000539926.1_Nonsense_Mutation_p.Y318*|MCCC1_ENST00000265594.4_Nonsense_Mutation_p.Y453*	p.Y344*			Q96RQ3	MCCA_HUMAN	all cancers(12;1.8e-44)|Epithelial(37;3.23e-38)|LUSC - Lung squamous cell carcinoma(7;5.04e-25)|Lung(8;5.03e-23)|OV - Ovarian serous cystadenocarcinoma(80;5.07e-21)		11	1734	-	all_cancers(143;1.84e-14)|Ovarian(172;0.0355)		453			ATP-grasp.|Biotin carboxylation.		Q59ES4|Q9H959|Q9NS97	Nonsense_Mutation	SNP	ENST00000265594.4	37	c.1032C>A	CCDS3241.1	.	.	.	.	.	.	.	.	.	.	G	39	7.495967	0.98319	.	.	ENSG00000078070	ENST00000265594;ENST00000492597;ENST00000392616;ENST00000539926;ENST00000476176;ENST00000448585	.	.	.	5.82	5.82	0.92795	.	0.156978	0.64402	D	0.000014	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.25106	T	0.35	-42.7746	14.2722	0.66157	0.0707:0.0:0.9293:0.0	.	.	.	.	X	453;344;303;318;406;406	.	ENSP00000265594:Y453X	Y	-	3	2	MCCC1	184239526	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.507000	0.53371	2.752000	0.94435	0.655000	0.94253	TAC		0.527	MCCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350775.1	NM_020166		18	19	1	0	2.35188e-11	1	2.54003e-11	18	19					T	182756832	G	T	182756832	4	4	345	1	0	0	0	0	0	1	0	0	9374	1372	48	5	850	5	MCCC1	3	182756832	Nonsense_Mutation	SNP	G	TCGA-KK-A8II-01A-11D-A364-08	63622471	182756832	15265598	13	17436											
TMPRSS11D	9407	broad.mit.edu	37	chr4	68692994	68692994	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cttaccagcatattcttgagCgccccatcctgttacataag	10	12	6	13	1	1	1	0	1	1	0	2	1	2	1	4	0	4	2	4	0	4	6	rs370881465		TCGA-KK-A8II-01A-11D-A364-08	TCGA-KK-A8II-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	008659ce-78a0-4243-8cf4-bbfb8308e993	ff736958-09d1-4cb7-9fa5-5955bde500ff	g.chr4:68692994C>T	ENST00000283916.6	-	8	1035	c.937G>A	c.(937-939)Gct>Act	p.A313T	UBA6-AS1_ENST00000500538.2_RNA|TMPRSS11D_ENST00000545541.1_Missense_Mutation_p.A196T	NM_004262.2	NP_004253.1	O60235	TM11D_HUMAN	transmembrane protease, serine 11D	313	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				proteolysis (GO:0006508)|respiratory gaseous exchange (GO:0007585)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)	p.A313T(1)		cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23						TATTCTTGAGCGCCCCATCCT	0.378																																						ENST00000283916.6																			1	Substitution - Missense(1)	p.A313T(1)	kidney(1)	cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23						c.(937-939)Gct>Act		transmembrane protease, serine 11D		C	THR/ALA	1,4405		0,1,2202	107	106	106		937	3	0	4		106	2,8596	2.2+/-6.3	0,2,4297	no	missense	TMPRSS11D	NM_004262.2	58	0,3,6499	TT,TC,CC		0.0233,0.0227,0.0231	benign	313/419	68692994	3,13001	2203	4299	6502	SO:0001583	missense	9407				proteolysis|respiratory gaseous exchange	extracellular region|integral to plasma membrane	serine-type endopeptidase activity	g.chr4:68692994C>T	AB002134	CCDS3518.1	4q13.2	2010-04-13			ENSG00000153802	ENSG00000153802		"Serine peptidases / Transmembrane"	24059	protein-coding gene	gene with protein product	"airway trypsin like protease"	605369				9565616, 9070615	Standard	XM_005265710		Approved		uc003hdq.3	O60235	OTTHUMG00000129300	ENST00000283916.6:c.937G>A	4.37:g.68692994C>T	ENSP00000283916:p.Ala313Thr					RP11-453E17.1_ENST00000500538.2_RNA|TMPRSS11D_ENST00000545541.1_Missense_Mutation_p.A196T	p.A313T	NM_004262.2	NP_004253.1	O60235	TM11D_HUMAN			8	1035	-			313			Peptidase S1.		Q08AF6	Missense_Mutation	SNP	ENST00000283916.6	37	c.937G>A	CCDS3518.1	.	.	.	.	.	.	.	.	.	.	C	9.351	1.065640	0.20067	2.27E-4	2.33E-4	ENSG00000153802	ENST00000283916;ENST00000545541	D;D	0.88124	-2.34;-2.34	5.38	2.99	0.34606	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.119039	0.38326	N	0.001729	T	0.66607	0.2806	N	0.12422	0.21	0.09310	N	1	P	0.48162	0.906	B	0.30716	0.119	T	0.60627	-0.7226	10	0.27785	T	0.31	.	7.1451	0.25579	0.6816:0.1897:0.0:0.1288	.	313	O60235	TM11D_HUMAN	T	313;196	ENSP00000283916:A313T;ENSP00000442045:A196T	ENSP00000283916:A313T	A	-	1	0	TMPRSS11D	68375589	0.952000	0.32445	0.012000	0.15200	0.002000	0.02628	1.927000	0.40094	0.446000	0.26666	-0.181000	0.13052	GCT		0.378	TMPRSS11D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251430.3	NM_004262		36	64	0	0	0	1	0	36	64					T	68692994	C	T	68692994	3	4	345	1	0	0	0	0	1	0	0	0	16238	768	27	1	331	1	TMPRSS11D	4	68692994	Missense_Mutation	SNP	C	TCGA-KK-A8II-01A-11D-A364-08		68692994	122461282	14	17437											
CDH9	1007	broad.mit.edu	37	chr5	26902661	26902661	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccctcctttacatcttcatCtacttctatcaagtaagaga	11	14	4	12	0	5	1	2	0	3	1	6	2	6	1	2	0	2	1	2	0	5	7			TCGA-KK-A8II-01A-11D-A364-08	TCGA-KK-A8II-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	008659ce-78a0-4243-8cf4-bbfb8308e993	ff736958-09d1-4cb7-9fa5-5955bde500ff	g.chr5:26902661C>A	ENST00000231021.4	-	7	1349	c.1177G>T	c.(1177-1179)Gat>Tat	p.D393Y		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	393	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						ACATCTTCATCTACTTCTATC	0.378																																					Melanoma(8;187 585 15745 40864 52829)	ENST00000231021.4																			0				breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						c.(1177-1179)Gat>Tat		cadherin 9, type 2 (T1-cadherin)							128	121	123					5																	26902661		2203	4300	6503	SO:0001583	missense	1007				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:26902661C>A	AB035302	CCDS3893.1	5p14	2010-01-26			ENSG00000113100	ENSG00000113100		"Cadherins / Major cadherins"	1768	protein-coding gene	gene with protein product		609974				2059658	Standard	NM_016279		Approved		uc003jgs.1	Q9ULB4	OTTHUMG00000090671	ENST00000231021.4:c.1177G>T	5.37:g.26902661C>A	ENSP00000231021:p.Asp393Tyr						p.D393Y	NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN			7	1349	-			393			Cadherin 4.		Q3B7I5	Missense_Mutation	SNP	ENST00000231021.4	37	c.1177G>T	CCDS3893.1	.	.	.	.	.	.	.	.	.	.	C	3.449	-0.112372	0.06881	.	.	ENSG00000113100	ENST00000231021	T	0.52295	0.67	5.62	4.7	0.59300	Cadherin (3);Cadherin-like (1);	0.268636	0.40064	N	0.001181	T	0.33556	0.0867	N	0.24115	0.695	0.50171	D	0.999852	B	0.02656	0.0	B	0.11329	0.006	T	0.08638	-1.0712	9	.	.	.	.	14.7549	0.69557	0.0:0.8547:0.1453:0.0	.	393	Q9ULB4	CADH9_HUMAN	Y	393	ENSP00000231021:D393Y	.	D	-	1	0	CDH9	26938418	0.311000	0.24536	0.976000	0.42696	0.931000	0.56810	0.746000	0.26275	2.648000	0.89879	0.650000	0.86243	GAT		0.378	CDH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207352.1	NM_016279		5	70	1	0	0.00116845	1	0.00121339	5	70					A	26902661	C	A	26902661	3	1	345	1	0	0	0	0	1	0	0	0	3117	913	32	5	1216	5	CDH9	5	26902661	Missense_Mutation	SNP	C	TCGA-KK-A8II-01A-11D-A364-08		26902661	154012599	15	17438											
PCDHA2	56146	broad.mit.edu	37	chr5	140175878	140175878	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gccaccaccagcgtgtccatCgaggtggccgacgtgaacga	9	5	13	14	5	0	1	0	1	0	0	2	4	1	1	5	2	2	0	5	2	1	0			TCGA-KK-A8II-01A-11D-A364-08	TCGA-KK-A8II-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	008659ce-78a0-4243-8cf4-bbfb8308e993	ff736958-09d1-4cb7-9fa5-5955bde500ff	g.chr5:140175878C>T	ENST00000526136.1	+	1	1329	c.1329C>T	c.(1327-1329)atC>atT	p.I443I	PCDHA2_ENST00000520672.2_Silent_p.I443I|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000378132.1_Silent_p.I443I|PCDHA1_ENST00000394633.3_Intron	NM_018905.2	NP_061728.1	Q9Y5H9	PCDA2_HUMAN	protocadherin alpha 2	443	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCGTGTCCATCGAGGTGGCCG	0.652																																						ENST00000526136.1																			0				NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)	71						c.(1327-1329)atC>atT									78	77	78					5																	140175878		2203	4300	6503	SO:0001819	synonymous_variant	0							g.chr5:140175878C>T	AF152480	CCDS54914.1, CCDS64269.1	5q31	2010-11-26				ENSG00000204969		"Cadherins / Protocadherins : Clustered"	8668	other	complex locus constituent	"KIAA0345-like 12"	606308				10380929	Standard	NM_018905		Approved			Q9Y5H9		ENST00000526136.1:c.1329C>T	5.37:g.140175878C>T						PCDHA2_ENST00000520672.2_Silent_p.I443I|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000378132.1_Silent_p.I443I	p.I443I	NM_018905.2	NP_061728.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1329	+								O75287|Q9BTV3	Silent	SNP	ENST00000526136.1	37	c.1329C>T	CCDS54914.1																																																																																				0.652	PCDHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372877.3	NM_018905		35	35	0	0	0	1	0	35	35					T	140175878	C	T	140175878	2	4	345	1	0	0	0	0	0	0	0	1	11524	874	31	2		2	PCDHA2	5	140175878	Silent	SNP	C	TCGA-KK-A8II-01A-11D-A364-08	113273217	140175878	40739382	16	17439											
EYS	346007	broad.mit.edu	37	chr6	66115238	66115238	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcagagaaacacaaggtttTgctgacacctcacagaatgg	15	7	10	9	0	1	3	1	1	0	2	1	4	1	3	1	2	3	3	1	2	3	2			TCGA-KK-A8II-01A-11D-A364-08	TCGA-KK-A8II-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	008659ce-78a0-4243-8cf4-bbfb8308e993	ff736958-09d1-4cb7-9fa5-5955bde500ff	g.chr6:66115238T>G	ENST00000370621.3	-	6	1411	c.885A>C	c.(883-885)gcA>gcC	p.A295A	EYS_ENST00000370618.3_Silent_p.A295A|EYS_ENST00000342421.5_Silent_p.A295A|EYS_ENST00000503581.1_Silent_p.A295A|EYS_ENST00000370616.2_Silent_p.A295A|EYS_ENST00000393380.2_Silent_p.A295A			Q5T1H1	EYS_HUMAN	eyes shut homolog (Drosophila)	295					detection of light stimulus involved in visual perception (GO:0050908)|skeletal muscle tissue regeneration (GO:0043403)	extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						CACAAGGTTTTGCTGACACCT	0.363																																						ENST00000503581.1																			0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						c.(883-885)gcA>gcC		eyes shut homolog (Drosophila)							120	124	123					6																	66115238		2203	4300	6503	SO:0001819	synonymous_variant	346007				response to stimulus|visual perception	extracellular region	calcium ion binding	g.chr6:66115238T>G		CCDS4967.1, CCDS47445.1, CCDS47446.1	6q12	2014-01-28	2008-10-20	2008-10-20	ENSG00000188107	ENSG00000188107			21555	protein-coding gene	gene with protein product		612424	"chromosome 6 open reading frame 180", "EGF-like-domain, multiple 11", "retinitis pigmentosa 25 (autosomal recessive)", "EGF-like-domain, multiple 10", "chromosome 6 open reading frame 178", "chromosome 6 open reading frame 179"	C6orf180, EGFL11, RP25, EGFL10, C6orf178, C6orf179		18836446, 18976725	Standard	NM_001142800		Approved	dJ1018A4.2, bA166P24.2, SPAM, bA307F22.3, dJ303F19.1, bA74E24.1	uc011dxu.1	Q5T1H1	OTTHUMG00000014971	ENST00000370621.3:c.885A>C	6.37:g.66115238T>G						EYS_ENST00000342421.5_Silent_p.A295A|EYS_ENST00000370616.2_Silent_p.A295A|EYS_ENST00000370621.3_Silent_p.A295A|EYS_ENST00000370618.3_Silent_p.A295A|EYS_ENST00000393380.2_Silent_p.A295A	p.A295A	NM_001142800.1	NP_001136272.1	Q5T1H1	EYS_HUMAN			6	1422	-			295					A2RUR2|A8MVE7|B7TYK8|B7UUQ3|B7ZBE7|B7ZBE8|B7ZBR3|B9ZVD2|Q5SZM4|Q5T3C8|Q5T669|Q5TEL3|Q5TEL4|Q5VVG4|Q6UY05|Q9H557|Q9NQ15	Silent	SNP	ENST00000370621.3	37	c.885A>C																																																																																					0.363	EYS-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000351351.3	XM_294050		56	65	0	0	0	1	0	56	65					G	66115238	T	G	66115238	2	3	345	1	0	0	0	0	0	0	0	1	5332	1799	63	5		5	EYS	6	66115238	Silent	SNP	T	TCGA-KK-A8II-01A-11D-A364-08		66115238	104999829	17	17440											
TRAF3IP2	10758	broad.mit.edu	37	chr6	111888871	111888871	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tttaatgatatcaatgcctcGgattctatcctcaaatatgt	12	16	5	8	1	3	1	2	1	1	0	5	2	4	2	2	1	1	0	2	1	6	6			TCGA-KK-A8II-01A-11D-A364-08	TCGA-KK-A8II-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	008659ce-78a0-4243-8cf4-bbfb8308e993	ff736958-09d1-4cb7-9fa5-5955bde500ff	g.chr6:111888871G>A	ENST00000340026.6	-	7	1936	c.1342C>T	c.(1342-1344)Cga>Tga	p.R448*	TRAF3IP2_ENST00000368761.5_Nonsense_Mutation_p.R439*|TRAF3IP2-AS1_ENST00000532353.1_RNA|TRAF3IP2-AS1_ENST00000440395.1_RNA|TRAF3IP2-AS1_ENST00000449449.2_RNA|TRAF3IP2-AS1_ENST00000438298.2_RNA|TRAF3IP2-AS1_ENST00000456352.2_RNA|TRAF3IP2_ENST00000368735.1_5'Flank|TRAF3IP2_ENST00000368731.2_5'UTR|TRAF3IP2-AS1_ENST00000442928.2_RNA|TRAF3IP2_ENST00000392556.4_Nonsense_Mutation_p.R27*|TRAF3IP2-AS1_ENST00000606892.1_RNA|TRAF3IP2_ENST00000359831.4_Nonsense_Mutation_p.R439*			O43734	CIKS_HUMAN	TRAF3 interacting protein 2	448	SEFIR. {ECO:0000255|PROSITE- ProRule:PRU00867}.				B cell apoptotic process (GO:0001783)|humoral immune response (GO:0006959)|immunoglobulin secretion (GO:0048305)|intracellular signal transduction (GO:0035556)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)					central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|urinary_tract(1)	18		all_cancers(87;7.87e-06)|Acute lymphoblastic leukemia(125;3.61e-09)|all_hematologic(75;2.63e-07)|all_epithelial(87;0.0024)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.033)|all cancers(137;0.0412)|Epithelial(106;0.0732)		TCAATGCCTCGGATTCTATCC	0.388																																						ENST00000368761.5																			0				central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|urinary_tract(1)	18						c.(1315-1317)Cga>Tga		TRAF3 interacting protein 2							106	101	103					6																	111888871		2203	4300	6503	SO:0001587	stop_gained	10758				intracellular signal transduction|positive regulation of I-kappaB kinase/NF-kappaB cascade	intracellular		g.chr6:111888871G>A	AF136405	CCDS5093.1, CCDS55049.1, CCDS55050.1	6q21	2008-09-05	2002-06-20	2005-04-13	ENSG00000056972	ENSG00000056972			1343	protein-coding gene	gene with protein product		607043	"chromosome 6 open reading frame 5", "chromosome 6 open reading frame 2"	C6orf4, C6orf5, C6orf6, C6orf2		10962033, 10962024	Standard	NR_028338		Approved	DKFZP586G0522, ACT1, CIKS	uc003pvf.4	O43734	OTTHUMG00000015379	ENST00000340026.6:c.1342C>T	6.37:g.111888871G>A	ENSP00000345984:p.Arg448*					TRAF3IP2_ENST00000340026.6_Nonsense_Mutation_p.R448*|TRAF3IP2-AS1_ENST00000532353.1_RNA|TRAF3IP2-AS1_ENST00000440395.1_RNA|TRAF3IP2-AS1_ENST00000606892.1_RNA|TRAF3IP2-AS1_ENST00000442928.2_RNA|TRAF3IP2-AS1_ENST00000456352.2_RNA|TRAF3IP2-AS1_ENST00000449449.2_RNA|TRAF3IP2-AS1_ENST00000438298.2_RNA|TRAF3IP2_ENST00000359831.4_Nonsense_Mutation_p.R439*|TRAF3IP2_ENST00000368731.2_5'UTR|TRAF3IP2_ENST00000392556.4_Nonsense_Mutation_p.R27*	p.R439*	NM_001164281.2|NM_147686.3	NP_001157753.1|NP_679211.2	O43734	CIKS_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.033)|all cancers(137;0.0412)|Epithelial(106;0.0732)	6	1793	-		all_cancers(87;7.87e-06)|Acute lymphoblastic leukemia(125;3.61e-09)|all_hematologic(75;2.63e-07)|all_epithelial(87;0.0024)|Colorectal(196;0.021)	448			SEFIR.		B2RAY9|E1P555|Q5R3A3|Q7Z6Q1|Q7Z6Q2|Q7Z6Q3|Q9H5W2|Q9H6Y3|Q9NS14|Q9UG72	Nonsense_Mutation	SNP	ENST00000340026.6	37	c.1315C>T		.	.	.	.	.	.	.	.	.	.	G	37	6.301836	0.97458	.	.	ENSG00000056972	ENST00000392555;ENST00000368761;ENST00000392556;ENST00000340026;ENST00000359831	.	.	.	5.76	4.89	0.63831	.	0.068380	0.64402	D	0.000017	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-0.7497	13.8112	0.63264	0.0:0.0:0.7209:0.2791	.	.	.	.	X	448;439;27;448;439	.	ENSP00000345984:R448X	R	-	1	2	TRAF3IP2	111995564	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	2.935000	0.48963	1.422000	0.47177	0.555000	0.69702	CGA		0.388	TRAF3IP2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000041841.2			26	25	0	0	0	1	0	26	25					A	111888871	G	A	111888871	4	1	345	1	0	0	0	0	0	1	0	0	16438	1124	39	2	398	2	TRAF3IP2	6	111888871	Nonsense_Mutation	SNP	G	TCGA-KK-A8II-01A-11D-A364-08	45773633	111888871	59226196	18	17441											
HECW1	23072	broad.mit.edu	37	chr7	43484655	43484655	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggggctactccaggcacggcGcaccctggccactccggggg	5	4	16	16	3	0	0	0	0	0	0	2	0	2	0	4	7	1	3	4	7	1	1			TCGA-KK-A8II-01A-11D-A364-08	TCGA-KK-A8II-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	008659ce-78a0-4243-8cf4-bbfb8308e993	ff736958-09d1-4cb7-9fa5-5955bde500ff	g.chr7:43484655G>A	ENST00000395891.2	+	11	2489	c.1884G>A	c.(1882-1884)gcG>gcA	p.A628A	HECW1_ENST00000453890.1_Silent_p.A628A	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1	628					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						CAGGCACGGCGCACCCTGGCC	0.711																																						ENST00000395891.1																			0				NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						c.(1882-1884)gcG>gcA		HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1							8	13	11					7																	43484655		1969	4106	6075	SO:0001819	synonymous_variant	23072				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity	g.chr7:43484655G>A	AB048365	CCDS5469.2, CCDS69286.1	7p13	2004-12-13			ENSG00000002746	ENSG00000002746			22195	protein-coding gene	gene with protein product		610384				12690205, 14684739	Standard	XM_005249665		Approved	KIAA0322, NEDL1	uc003tid.1	Q76N89	OTTHUMG00000128917	ENST00000395891.2:c.1884G>A	7.37:g.43484655G>A						HECW1_ENST00000453890.1_Silent_p.A628A	p.A628A	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN			11	2489	+			628					A7E2X0|A8MYS3|B4DH42|O15036|Q9HCC7	Silent	SNP	ENST00000395891.2	37	c.1884G>A	CCDS5469.2																																																																																				0.711	HECW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250893.2	NM_015052		8	6	0	0	0	1	0	8	6					A	43484655	G	A	43484655	2	1	345	1	0	0	0	0	0	0	0	1	7042	1074	38	1		1	HECW1	7	43484655	Silent	SNP	G	TCGA-KK-A8II-01A-11D-A364-08		43484655	115654008	19	17442											
DDX56	54606	broad.mit.edu	37	chr7	44611159	44611159	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aactgttccaagaacaggcgTagccggtaactccgttctag	11	9	10	11	3	1	1	0	0	1	1	3	1	3	1	3	2	4	4	3	2	6	5			TCGA-KK-A8II-01A-11D-A364-08	TCGA-KK-A8II-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	008659ce-78a0-4243-8cf4-bbfb8308e993	ff736958-09d1-4cb7-9fa5-5955bde500ff	g.chr7:44611159T>C	ENST00000258772.5	-	6	928	c.822A>G	c.(820-822)ctA>ctG	p.L274L	DDX56_ENST00000431640.1_Silent_p.L274L|DDX56_ENST00000485367.1_5'UTR	NM_001257189.1|NM_019082.3	NP_001244118.1|NP_061955.1	Q9NY93	DDX56_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 56	274	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				ATP catabolic process (GO:0006200)|rRNA processing (GO:0006364)	membrane (GO:0016020)|nucleolus (GO:0005730)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(5)|upper_aerodigestive_tract(1)	16						AGAACAGGCGTAGCCGGTAAC	0.512																																						ENST00000258772.5																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(5)|upper_aerodigestive_tract(1)	16						c.(820-822)ctA>ctG		DEAD (Asp-Glu-Ala-Asp) box helicase 56							84	76	79					7																	44611159		2203	4300	6503	SO:0001819	synonymous_variant	54606				rRNA processing	nucleolus	ATP binding|ATP-dependent RNA helicase activity|identical protein binding|RNA binding	g.chr7:44611159T>C	AJ131712	CCDS5492.1, CCDS59053.1	7p13	2012-02-23	2012-02-23		ENSG00000136271	ENSG00000136271		"DEAD-boxes"	18193	protein-coding gene	gene with protein product	"nucleolar helicase of 61 kDa"	608023	"DEAD (Asp-Glu-Ala-Asp) box polypeptide 56"			10749921	Standard	NM_019082		Approved	NOH61	uc003tlg.4	Q9NY93	OTTHUMG00000129211	ENST00000258772.5:c.822A>G	7.37:g.44611159T>C						DDX56_ENST00000431640.1_Silent_p.L274L|DDX56_ENST00000485367.1_5'UTR	p.L274L	NM_001257189.1|NM_019082.3	NP_001244118.1|NP_061955.1	Q9NY93	DDX56_HUMAN			6	928	-			274			Helicase C-terminal.		A4D2K9|C9JV95|Q6IAE2|Q9H9I8	Silent	SNP	ENST00000258772.5	37	c.822A>G	CCDS5492.1																																																																																				0.512	DDX56-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251291.1	NM_019082		17	35	0	0	0	1	0	17	35					C	44611159	T	C	44611159	2	2	345	1	0	0	0	0	0	0	0	1	4374	1625	57	4		4	DDX56	7	44611159	Silent	SNP	T	TCGA-KK-A8II-01A-11D-A364-08	1126504	44611159	114527504	20	17443											
MLL3	58508	broad.mit.edu	37	chr7	151877201	151877201	+	Nonsense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gctggagaatgatttcacgtAacttctgccgctaaatggga	11	11	11	8	2	2	2	1	1	1	1	2	4	2	3	1	2	2	3	1	2	4	4			TCGA-KK-A8II-01A-11D-A364-08	TCGA-KK-A8II-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	008659ce-78a0-4243-8cf4-bbfb8308e993	ff736958-09d1-4cb7-9fa5-5955bde500ff	g.chr7:151877201A>C	ENST00000262189.6	-	37	7378	c.7160T>G	c.(7159-7161)tTa>tGa	p.L2387*	KMT2C_ENST00000355193.2_Nonsense_Mutation_p.L2387*	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	2387					histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										GATTTCACGTAACTTCTGCCG	0.443																																						ENST00000355193.2																			0											c.(7159-7161)tTa>tGa		lysine (K)-specific methyltransferase 2C							169	157	161					7																	151877201		2203	4300	6503	SO:0001587	stop_gained	58508							g.chr7:151877201A>C	AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	13726	protein-coding gene	gene with protein product		606833	"myeloid/lymphoid or mixed-lineage leukemia 3"	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.7160T>G	7.37:g.151877201A>C	ENSP00000262189:p.Leu2387*					KMT2C_ENST00000262189.6_Nonsense_Mutation_p.L2387*	p.L2387*							37	7378	-								Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Nonsense_Mutation	SNP	ENST00000262189.6	37	c.7160T>G	CCDS5931.1	.	.	.	.	.	.	.	.	.	.	A	49	16.001177	0.99851	.	.	ENSG00000055609	ENST00000262189;ENST00000355193	.	.	.	5.5	5.5	0.81552	.	0.000000	0.32785	N	0.005646	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.6026	0.76636	1.0:0.0:0.0:0.0	.	.	.	.	X	2387	.	ENSP00000262189:L2387X	L	-	2	0	MLL3	151508134	0.987000	0.35691	0.853000	0.33588	0.977000	0.68977	8.478000	0.90428	2.085000	0.62840	0.528000	0.53228	TTA		0.443	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3			55	69	0	0	0	1	0	55	69					C	151877201	A	C	151877201	4	2	345	1	0	0	0	0	0	1	0	0	9622	372	13	5	7667	5	MLL3	7	151877201	Nonsense_Mutation	SNP	A	TCGA-KK-A8II-01A-11D-A364-08	107266042	151877201	7261462	21	17444											
TTC39B	158219	broad.mit.edu	37	chr9	15185290	15185290	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gcagataccagggcaggtaaGatgagcttcacaggtgcagg	12	6	15	8	0	1	3	1	1	0	2	1	3	1	3	1	4	3	5	1	4	2	3			TCGA-KK-A8II-01A-11D-A364-08	TCGA-KK-A8II-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	008659ce-78a0-4243-8cf4-bbfb8308e993	ff736958-09d1-4cb7-9fa5-5955bde500ff	g.chr9:15185290G>C	ENST00000512701.2	-	16	1638	c.1602C>G	c.(1600-1602)atC>atG	p.I534M	TTC39B_ENST00000507285.1_Missense_Mutation_p.I369M|TTC39B_ENST00000355694.2_Missense_Mutation_p.I468M|TTC39B_ENST00000297615.5_Missense_Mutation_p.I465M|TTC39B_ENST00000380850.4_Missense_Mutation_p.I521M|TTC39B_ENST00000507993.1_Missense_Mutation_p.I369M			Q5VTQ0	TT39B_HUMAN	tetratricopeptide repeat domain 39B	534										NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)	21						GGGCAGGTAAGATGAGCTTCA	0.438																																						ENST00000355694.2																			0				NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)	21						c.(1402-1404)atC>atG		tetratricopeptide repeat domain 39B							100	101	101					9																	15185290		2203	4300	6503	SO:0001583	missense	158219						binding	g.chr9:15185290G>C	AK091187	CCDS6477.1, CCDS6477.2, CCDS55294.1, CCDS55295.1, CCDS55296.1	9p22.2	2013-01-11	2008-06-23	2008-06-23	ENSG00000155158	ENSG00000155158		"Tetratricopeptide (TTC) repeat domain containing"	23704	protein-coding gene	gene with protein product		613574	"chromosome 9 open reading frame 52"	C9orf52			Standard	NM_001168339		Approved	FLJ33868	uc003zlr.2	Q5VTQ0	OTTHUMG00000019581	ENST00000512701.2:c.1602C>G	9.37:g.15185290G>C	ENSP00000422496:p.Ile534Met					TTC39B_ENST00000507993.1_Missense_Mutation_p.I369M|TTC39B_ENST00000512701.1_Missense_Mutation_p.I534M|TTC39B_ENST00000507285.1_Missense_Mutation_p.I369M|TTC39B_ENST00000297615.5_Missense_Mutation_p.I465M|TTC39B_ENST00000380850.4_Missense_Mutation_p.I521M	p.I468M	NM_001168339.1|NM_152574.2	NP_001161811.1|NP_689787.2	Q5VTQ0	TT39B_HUMAN			16	1638	-			468					A5PLN1|B4DQ10|B4DQX4|B4DW93|Q8IVR7|Q8IXZ6|Q8N267	Missense_Mutation	SNP	ENST00000512701.2	37	c.1404C>G	CCDS6477.2	.	.	.	.	.	.	.	.	.	.	G	10.82	1.457555	0.26161	.	.	ENSG00000155158	ENST00000380850;ENST00000297615;ENST00000355694;ENST00000512701;ENST00000507285;ENST00000507993	T;T;T;T;T;T	0.43688	0.94;0.94;0.94;0.94;0.94;0.94	5.85	3.01	0.34805	.	0.619056	0.16610	N	0.206935	T	0.40670	0.1126	L	0.59436	1.845	0.09310	N	0.999996	P;P;B;B;P	0.45715	0.837;0.865;0.135;0.135;0.655	B;P;B;B;B	0.47891	0.424;0.56;0.436;0.436;0.419	T	0.23226	-1.0194	10	0.37606	T	0.19	-3.5878	3.384	0.07265	0.1387:0.1036:0.5127:0.245	.	465;521;466;468;51	F5H705;E9PAQ9;A5PLN1;Q5VTQ0;Q8IXZ6	.;.;.;TT39B_HUMAN;.	M	521;465;468;534;369;369	ENSP00000370231:I521M;ENSP00000297615:I465M;ENSP00000347920:I468M;ENSP00000422496:I534M;ENSP00000426539:I369M;ENSP00000423392:I369M	ENSP00000297615:I465M	I	-	3	3	TTC39B	15175290	0.156000	0.22821	0.156000	0.22583	0.693000	0.40251	0.689000	0.25437	0.804000	0.34136	0.563000	0.77884	ATC		0.438	TTC39B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051758.3	NM_152574		5	82	0	0	0	1	0	5	82					C	15185290	G	C	15185290	3	2	345	1	0	0	0	0	1	0	0	0	16705	932	33	5	466	5	TTC39B	9	15185290	Missense_Mutation	SNP	G	TCGA-KK-A8II-01A-11D-A364-08		15185290	126028141	22	17445											
FANK1	92565	broad.mit.edu	37	chr10	127677139	127677139	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggggatatgcaacgaagcatGttgttgaaggtctggaacca	12	9	14	6	1	1	1	0	1	1	0	1	4	1	3	1	4	4	4	1	4	5	3			TCGA-KK-A8II-01A-11D-A364-08	TCGA-KK-A8II-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	008659ce-78a0-4243-8cf4-bbfb8308e993	ff736958-09d1-4cb7-9fa5-5955bde500ff	g.chr10:127677139G>C	ENST00000368693.1	+	3	315	c.211G>C	c.(211-213)Gtt>Ctt	p.V71L	FANK1_ENST00000449042.2_Missense_Mutation_p.V65L|FANK1_ENST00000368695.1_Missense_Mutation_p.V65L|FANK1_ENST00000368689.1_Missense_Mutation_p.V65L			Q8TC84	FANK1_HUMAN	fibronectin type III and ankyrin repeat domains 1	71	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.					cytoplasm (GO:0005737)|nucleus (GO:0005634)				central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(10)|ovary(1)|urinary_tract(1)	21		all_lung(145;0.00752)|Lung NSC(174;0.0115)|Colorectal(57;0.0847)|all_neural(114;0.0936)				AACGAAGCATGTTGTTGAAGG	0.512																																						ENST00000368695.1																			0				central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(10)|ovary(1)|urinary_tract(1)	21						c.(193-195)Gtt>Ctt		fibronectin type III and ankyrin repeat domains 1							260	236	244					10																	127677139		2203	4300	6503	SO:0001583	missense	92565					cytoplasm|nucleus		g.chr10:127677139G>C	BC024189	CCDS31309.1	10q26.2	2013-02-11	2005-03-01		ENSG00000203780	ENSG00000203780		"Ankyrin repeat domain containing", "Fibronectin type III domain containing"	23527	protein-coding gene	gene with protein product		611640	"fibronectin type 3 and ankyrin repeat domains 1"			12477932	Standard	NM_145235		Approved		uc001ljh.4	Q8TC84	OTTHUMG00000019241	ENST00000368693.1:c.211G>C	10.37:g.127677139G>C	ENSP00000357682:p.Val71Leu					FANK1_ENST00000368689.1_Missense_Mutation_p.V65L|FANK1_ENST00000449042.2_Missense_Mutation_p.V65L|FANK1_ENST00000368693.1_Missense_Mutation_p.V71L	p.V65L	NM_145235.3	NP_660278.3	Q8TC84	FANK1_HUMAN			3	315	+		all_lung(145;0.00752)|Lung NSC(174;0.0115)|Colorectal(57;0.0847)|all_neural(114;0.0936)	71			Fibronectin type-III.		Q6UXY9|Q6X7T6	Missense_Mutation	SNP	ENST00000368693.1	37	c.193G>C	CCDS31309.1	.	.	.	.	.	.	.	.	.	.	G	10.69	1.421722	0.25639	.	.	ENSG00000203780	ENST00000368695;ENST00000368693;ENST00000449042;ENST00000417114;ENST00000445510;ENST00000368691;ENST00000368689;ENST00000368692	T;T;T;T;T;T;T	0.29655	1.56;1.56;1.56;1.56;1.56;1.56;1.56	5.07	3.18	0.36537	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.171981	0.33959	N	0.004392	T	0.18045	0.0433	N	0.21448	0.665	0.09310	N	1	B;B;B;B	0.14805	0.011;0.005;0.002;0.001	B;B;B;B	0.17979	0.006;0.02;0.01;0.003	T	0.15780	-1.0425	10	0.23302	T	0.38	-21.6663	8.3196	0.32121	0.2509:0.0:0.7491:0.0	.	65;71;71;71	B7Z939;Q8TC84-3;Q8TC84-2;Q8TC84	.;.;.;FANK1_HUMAN	L	65;71;65;65;65;65;65;71	ENSP00000357684:V65L;ENSP00000357682:V71L;ENSP00000411388:V65L;ENSP00000396356:V65L;ENSP00000415719:V65L;ENSP00000357680:V65L;ENSP00000357678:V65L	ENSP00000357678:V65L	V	+	1	0	FANK1	127667129	0.345000	0.24835	0.045000	0.18777	0.323000	0.28346	2.001000	0.40825	1.360000	0.45960	0.650000	0.86243	GTT		0.512	FANK1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_145235		6	113	0	0	0	1	0	6	113					C	127677139	G	C	127677139	3	2	345	1	0	0	0	0	1	0	0	0	5672	1377	48	5	221	5	FANK1	10	127677139	Missense_Mutation	SNP	G	TCGA-KK-A8II-01A-11D-A364-08		127677139	7857608	23	17446											
ZNF143	7702	broad.mit.edu	37	chr11	9500066	9500066	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggctgatgggacagtggcagGtctgcacactggggatgcta	8	8	17	8	0	1	1	0	1	1	0	1	3	1	3	0	6	2	4	0	6	1	1			TCGA-KK-A8II-01A-11D-A364-08	TCGA-KK-A8II-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	008659ce-78a0-4243-8cf4-bbfb8308e993	ff736958-09d1-4cb7-9fa5-5955bde500ff	g.chr11:9500066G>A	ENST00000396602.2	+	6	622	c.503G>A	c.(502-504)gGt>gAt	p.G168D	ZNF143_ENST00000396597.3_Missense_Mutation_p.G137D|ZNF143_ENST00000396604.1_Missense_Mutation_p.G167D|ZNF143_ENST00000299606.2_Missense_Mutation_p.G140D|ZNF143_ENST00000530463.1_Missense_Mutation_p.G167D	NM_001282656.1|NM_001282657.1|NM_003442.5	NP_001269585.1|NP_001269586.1|NP_003433.3	P52747	ZN143_HUMAN	zinc finger protein 143	168					gene expression (GO:0010467)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|transcription from RNA polymerase II promoter (GO:0006366)|transcription from RNA polymerase III promoter (GO:0006383)	nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|large_intestine(5)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	13				all cancers(16;4.12e-09)|Epithelial(150;2.29e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0212)		ACAGTGGCAGGTCTGCACACT	0.493																																						ENST00000396602.2																			0				endometrium(1)|large_intestine(5)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	13						c.(502-504)gGt>gAt		zinc finger protein 143							158	133	142					11																	9500066		2201	4294	6495	SO:0001583	missense	7702				regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase III promoter|transcription from RNA polymerase II promoter|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding|zinc ion binding	g.chr11:9500066G>A	U09850	CCDS7799.2, CCDS60720.1, CCDS60721.1	11p15.4	2013-01-08	2006-06-13		ENSG00000166478	ENSG00000166478		"Zinc fingers, C2H2-type"	12928	protein-coding gene	gene with protein product		603433	"zinc finger protein 143 (clone pHZ-1)"				Standard	NM_003442		Approved	SBF, pHZ-1, STAF	uc001mhr.3	P52747	OTTHUMG00000149922	ENST00000396602.2:c.503G>A	11.37:g.9500066G>A	ENSP00000379847:p.Gly168Asp					ZNF143_ENST00000396597.3_Missense_Mutation_p.G137D|ZNF143_ENST00000530463.1_Missense_Mutation_p.G167D|ZNF143_ENST00000396604.1_Missense_Mutation_p.G167D|ZNF143_ENST00000299606.2_Missense_Mutation_p.G140D	p.G168D	NM_003442.5	NP_003433.3	P52747	ZN143_HUMAN		all cancers(16;4.12e-09)|Epithelial(150;2.29e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0212)	6	622	+			168					A8K518|B4DLY5|E7ER34|O75559|Q8WUK9	Missense_Mutation	SNP	ENST00000396602.2	37	c.503G>A	CCDS7799.2	.	.	.	.	.	.	.	.	.	.	G	9.003	0.980608	0.18812	.	.	ENSG00000166478	ENST00000396604;ENST00000396602;ENST00000530463;ENST00000533542;ENST00000396597;ENST00000438144;ENST00000299606;ENST00000534265	T;T;T;T;T;T;T;T	0.40225	3.04;3.03;3.04;1.11;3.05;1.09;3.05;1.04	5.04	5.04	0.67666	.	0.000000	0.64402	D	0.000002	T	0.40886	0.1135	N	0.02802	-0.49	0.54753	D	0.999988	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.998;0.998	T	0.52881	-0.8516	9	.	.	.	.	18.3682	0.90398	0.0:0.0:1.0:0.0	.	137;167;168	P52747-2;E7ER34;P52747	.;.;ZN143_HUMAN	D	167;168;167;136;137;168;140;168	ENSP00000379849:G167D;ENSP00000379847:G168D;ENSP00000432154:G167D;ENSP00000434922:G136D;ENSP00000379843:G137D;ENSP00000409432:G168D;ENSP00000299606:G140D;ENSP00000433743:G168D	.	G	+	2	0	ZNF143	9456642	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.353000	0.79414	2.344000	0.79699	0.591000	0.81541	GGT		0.493	ZNF143-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313921.2	NM_003442		35	41	0	0	0	1	0	35	41					A	9500066	G	A	9500066	3	1	345	1	0	0	0	0	1	0	0	0	17729	1261	44	3	521	3	ZNF143	11	9500066	Missense_Mutation	SNP	G	TCGA-KK-A8II-01A-11D-A364-08		9500066	125506450	24	17447											
OR4C3	256144	broad.mit.edu	37	chr11	48347461	48347461	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gaagaggtaaaaaatgccatGagaaagctctttacatggta	17	9	10	5	0	1	2	0	1	1	2	1	4	1	2	1	2	3	3	1	2	7	4			TCGA-KK-A8II-01A-11D-A364-08	TCGA-KK-A8II-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	008659ce-78a0-4243-8cf4-bbfb8308e993	ff736958-09d1-4cb7-9fa5-5955bde500ff	g.chr11:48347461G>A	ENST00000319856.4	+	1	990	c.969G>A	c.(967-969)atG>atA	p.M323I		NM_001004702.1	NP_001004702.1	Q8NH37	OR4C3_HUMAN	olfactory receptor, family 4, subfamily C, member 3	296						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	32						AAAATGCCATGAGAAAGCTCT	0.328																																						ENST00000319856.4																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	32						c.(967-969)atG>atA		olfactory receptor, family 4, subfamily C, member 3							47	48	48					11																	48347461		2198	4295	6493	SO:0001583	missense	256144				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:48347461G>A	AB065567	CCDS31489.1	11p11.2	2012-08-09				ENSG00000176547		"GPCR / Class A : Olfactory receptors"	14697	protein-coding gene	gene with protein product							Standard	NM_001004702		Approved		uc010rhv.2	Q8NH37	OTTHUMG00000166579	ENST00000319856.4:c.969G>A	11.37:g.48347461G>A	ENSP00000321419:p.Met323Ile						p.M323I	NM_001004702.1	NP_001004702.1	Q8NH37	OR4C3_HUMAN			1	990	+			296					B2RNF2|Q6IFB3	Missense_Mutation	SNP	ENST00000319856.4	37	c.969G>A	CCDS31489.1	.	.	.	.	.	.	.	.	.	.	G	5.815	0.334733	0.11013	.	.	ENSG00000176547	ENST00000319856	T	0.35048	1.33	5.97	3.04	0.35103	.	0.188527	0.38217	N	0.001780	T	0.16385	0.0394	N	0.11106	0.095	0.19775	N	0.999952	B	0.02656	0.0	B	0.04013	0.001	T	0.13710	-1.0499	10	0.27785	T	0.31	.	5.3189	0.15870	0.2237:0.0:0.6333:0.143	.	296	Q8NH37	OR4C3_HUMAN	I	323	ENSP00000321419:M323I	ENSP00000321419:M323I	M	+	3	0	OR4C3	48304037	0.128000	0.22383	0.835000	0.33067	0.656000	0.38851	0.042000	0.13949	0.838000	0.34948	0.561000	0.74099	ATG		0.328	OR4C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390557.1	NM_001004702		14	24	0	0	0	1	0	14	24					A	48347461	G	A	48347461	3	1	345	1	0	0	0	0	1	0	0	0	11050	1290	45	3	971	3	OR4C3	11	48347461	Missense_Mutation	SNP	G	TCGA-KK-A8II-01A-11D-A364-08	38847395	48347461	86659055	25	17448											
FAM111A	63901	broad.mit.edu	37	chr11	58920573	58920574	+	Frame_Shift_Ins	INS	-	-	A																															tattggccatccatatggagINSaaaaaaagcagattgatgct																										TCGA-KK-A8II-01A-11D-A364-08	TCGA-KK-A8II-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	008659ce-78a0-4243-8cf4-bbfb8308e993	ff736958-09d1-4cb7-9fa5-5955bde500ff	g.chr11:58920573_58920574insA	ENST00000528737.1	+	5	4250_4251	c.1432_1433insA	c.(1432-1434)gaafs	p.E478fs	FAM111A_ENST00000361723.3_Frame_Shift_Ins_p.E478fs|FAM111A_ENST00000420244.1_Frame_Shift_Ins_p.E478fs|FAM111A_ENST00000531147.1_Frame_Shift_Ins_p.E478fs|FAM111A_ENST00000533703.1_Frame_Shift_Ins_p.E478fs			Q96PZ2	F111A_HUMAN	family with sequence similarity 111, member A	478	Interaction with SV40 large T antigen.				defense response to virus (GO:0051607)|DNA replication (GO:0006260)|negative regulation of viral genome replication (GO:0045071)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	catalytic activity (GO:0003824)			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22		all_epithelial(135;0.139)				TCCATATGGAGAAAAAAAGCAG	0.406																																						ENST00000528737.1																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22						c.(1432-1434)aaafs		family with sequence similarity 111, member A																																				SO:0001589	frameshift_variant	63901				proteolysis		serine-type endopeptidase activity	g.chr11:58920573_58920574insA	AK092953	CCDS7973.1	11q12.1	2014-03-13				ENSG00000166801			24725	protein-coding gene	gene with protein product		615292				11572484, 23996431, 23684011	Standard	NM_022074		Approved	FLJ22794, KIAA1895	uc001nnq.3	Q96PZ2		ENST00000528737.1:c.1439dupA	11.37:g.58920580_58920580dupA	ENSP00000434435:p.Glu478fs					FAM111A_ENST00000420244.1_Frame_Shift_Ins_p.K478fs|FAM111A_ENST00000531147.1_Frame_Shift_Ins_p.K478fs|FAM111A_ENST00000533703.1_Frame_Shift_Ins_p.K478fs|FAM111A_ENST00000361723.3_Frame_Shift_Ins_p.K478fs	p.K478fs			Q96PZ2	F111A_HUMAN			5	4250_4251	+		all_epithelial(135;0.139)	478					A8K5Y8|Q5RKS9|Q5XKM2|Q68DK9|Q6IPR7|Q9H5Y1	Frame_Shift_Ins	INS	ENST00000528737.1	37	c.1432_1433insA	CCDS7973.1																																																																																				0.406	FAM111A-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393975.1	NM_022074		24	50						24	50	---	---	---	---	A	58920574	-	A	58920573	7	5	345	1	0	1	1	0	0	0	0	0	5399	943	33	0	1438	0	FAM111A	11	58920573	Frame_Shift_Ins	INS	-	TCGA-KK-A8II-01A-11D-A364-08	10573112	58920573	76085943	26	17449											
YARS2	51067	broad.mit.edu	37	chr12	32903729	32903729	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagtcgtttctgaggaccccGcctttctggctctttgacat	5	14	9	13	2	3	2	0	2	3	0	4	3	3	3	3	2	0	2	3	2	0	3			TCGA-KK-A8II-01A-11D-A364-08	TCGA-KK-A8II-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	008659ce-78a0-4243-8cf4-bbfb8308e993	ff736958-09d1-4cb7-9fa5-5955bde500ff	g.chr12:32903729G>A	ENST00000324868.8	-	3	1054	c.1027C>T	c.(1027-1029)Cgg>Tgg	p.R343W	YARS2_ENST00000551673.1_5'Flank	NM_001040436.2	NP_001035526.1	Q9Y2Z4	SYYM_HUMAN	tyrosyl-tRNA synthetase 2, mitochondrial	343					gene expression (GO:0010467)|mitochondrial tyrosyl-tRNA aminoacylation (GO:0070184)|translation (GO:0006412)|tRNA aminoacylation (GO:0043039)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|tRNA binding (GO:0000049)|tyrosine binding (GO:0072545)|tyrosine-tRNA ligase activity (GO:0004831)			endometrium(1)|large_intestine(4)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	16	Lung NSC(5;2.43e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)				L-Tyrosine(DB00135)	TGAGGACCCCGCCTTTCTGGC	0.433																																						ENST00000324868.8																			0				endometrium(1)|large_intestine(4)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	16						c.(1027-1029)Cgg>Tgg		tyrosyl-tRNA synthetase 2, mitochondrial	L-Tyrosine(DB00135)						96	88	91					12																	32903729		2203	4300	6503	SO:0001583	missense	51067				tyrosyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|protein binding|RNA binding|tyrosine-tRNA ligase activity	g.chr12:32903729G>A	AF132939	CCDS31770.1	12p11.21	2014-03-19	2007-02-23		ENSG00000139131	ENSG00000139131	6.1.1.1	"Aminoacyl tRNA synthetases / Class I"	24249	protein-coding gene	gene with protein product	"tyrosine tRNA ligase 2, mitochondrial"	610957				15779907, 15840810	Standard	NM_001040436		Approved	FLJ13995, CGI-04, mt-TyrRS	uc001rli.3	Q9Y2Z4	OTTHUMG00000169454	ENST00000324868.8:c.1027C>T	12.37:g.32903729G>A	ENSP00000320658:p.Arg343Trp						p.R343W	NM_001040436.2	NP_001035526.1	Q9Y2Z4	SYYM_HUMAN			3	1054	-	Lung NSC(5;2.43e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)		343					D3DUW8|Q9H817	Missense_Mutation	SNP	ENST00000324868.8	37	c.1027C>T	CCDS31770.1	.	.	.	.	.	.	.	.	.	.	G	12.70	2.015342	0.35511	.	.	ENSG00000139131	ENST00000324868	T	0.56941	0.43	4.78	2.81	0.32909	.	0.140848	0.47852	N	0.000216	T	0.43366	0.1244	M	0.75777	2.31	0.52501	D	0.999954	B	0.30870	0.298	B	0.17098	0.017	T	0.48681	-0.9014	10	0.56958	D	0.05	-18.5624	3.0591	0.06194	0.2524:0.0:0.5379:0.2097	.	343	Q9Y2Z4	SYYM_HUMAN	W	343	ENSP00000320658:R343W	ENSP00000320658:R343W	R	-	1	2	YARS2	32794996	1.000000	0.71417	0.980000	0.43619	0.819000	0.46315	1.133000	0.31430	1.158000	0.42547	0.650000	0.86243	CGG		0.433	YARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404153.1	NM_015936		20	21	0	0	0	1	0	20	21					A	32903729	G	A	32903729	3	1	345	1	0	0	0	0	1	0	0	0	17465	1086	38	1	418	1	YARS2	12	32903729	Missense_Mutation	SNP	G	TCGA-KK-A8II-01A-11D-A364-08		32903729	100948166	27	17450											
C13orf26	122046	broad.mit.edu	37	chr13	31531142	31531142	+	Nonsense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtttatttcccttactaagAgagactttgtggacagatca	12	14	8	7	0	1	3	1	0	0	3	2	5	2	4	1	1	1	1	1	1	3	6			TCGA-KK-A8II-01A-11D-A364-08	TCGA-KK-A8II-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	008659ce-78a0-4243-8cf4-bbfb8308e993	ff736958-09d1-4cb7-9fa5-5955bde500ff	g.chr13:31531142A>T	ENST00000380473.3	+	4	458	c.445A>T	c.(445-447)Aga>Tga	p.R149*	TEX26_ENST00000530916.1_3'UTR	NM_152325.1	NP_689538.1	Q8N6G2	TEX26_HUMAN	testis expressed 26	149																	CCTTACTAAGAGAGACTTTGT	0.438																																						ENST00000380473.3																			0											c.(445-447)Aga>Tga		testis expressed 26							121	111	114					13																	31531142		2203	4300	6503	SO:0001587	stop_gained	122046							g.chr13:31531142A>T	BC030277	CCDS9339.1	13q12.3	2012-02-06	2012-02-06	2012-02-06	ENSG00000175664	ENSG00000175664			28622	protein-coding gene	gene with protein product			"chromosome 13 open reading frame 26"	C13orf26		12477932	Standard	NM_152325		Approved	MGC40178	uc001uti.3	Q8N6G2	OTTHUMG00000016682	ENST00000380473.3:c.445A>T	13.37:g.31531142A>T	ENSP00000369840:p.Arg149*					TEX26_ENST00000530916.1_3'UTR	p.R149*	NM_152325.1	NP_689538.1	Q8N6G2	CM026_HUMAN			4	458	+			149						Nonsense_Mutation	SNP	ENST00000380473.3	37	c.445A>T	CCDS9339.1	.	.	.	.	.	.	.	.	.	.	A	36	5.946326	0.97134	.	.	ENSG00000175664	ENST00000380473	.	.	.	4.86	2.39	0.29439	.	0.593231	0.15420	N	0.263293	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05620	T	0.96	-10.8111	4.813	0.13353	0.6846:0.0:0.3154:0.0	.	.	.	.	X	149	.	ENSP00000369840:R149X	R	+	1	2	C13orf26	30429142	0.013000	0.17824	0.500000	0.27589	0.890000	0.51754	0.634000	0.24614	0.642000	0.30620	0.533000	0.62120	AGA		0.438	TEX26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044380.2	NM_152325		24	72	0	0	0	1	0	24	72					T	31531142	A	T	31531142	4	4	345	1	0	0	0	0	0	1	0	0	1722	296	11	5	459	5	C13orf26	13	31531142	Nonsense_Mutation	SNP	A	TCGA-KK-A8II-01A-11D-A364-08		31531142	83638736	28	17451											
SYNE2	23224	broad.mit.edu	37	chr14	64690055	64690055	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaagaaactcaaacagttacGggagcaagtgtcccaagatt	16	7	10	8	1	1	2	1	0	0	2	2	4	2	3	1	1	4	2	1	1	6	2	rs202240664	byFrequency	TCGA-KK-A8II-01A-11D-A364-08	TCGA-KK-A8II-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	008659ce-78a0-4243-8cf4-bbfb8308e993	ff736958-09d1-4cb7-9fa5-5955bde500ff	g.chr14:64690055G>A	ENST00000344113.4	+	112	20482	c.20270G>A	c.(20269-20271)cGg>cAg	p.R6757Q	SYNE2_ENST00000554584.1_Missense_Mutation_p.R6673Q|SYNE2_ENST00000555002.1_Missense_Mutation_p.R3414Q|SYNE2_ENST00000554805.1_Missense_Mutation_p.R540Q|SYNE2_ENST00000555022.1_Missense_Mutation_p.R635Q|SYNE2_ENST00000358025.3_Missense_Mutation_p.R6780Q|SYNE2_ENST00000441438.2_Missense_Mutation_p.R302Q|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000357395.3_Missense_Mutation_p.R3142Q|SYNE2_ENST00000394768.2_Missense_Mutation_p.R3142Q|SYNE2_ENST00000458046.2_Missense_Mutation_p.R428Q	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	6757					centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)	p.R6780L(1)|p.R6780Q(1)		NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		AAACAGTTACGGGAGCAAGTG	0.428													G|||	7	0.00139776	0	0	5008	,	,		21058	0		0	False		,,,				2504	0.0072					ENST00000357395.3																			2	Substitution - Missense(2)	p.R6780L(1)|p.R6780Q(1)	lung(1)|breast(1)	NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224						c.(9424-9426)cGg>cAg		spectrin repeat containing, nuclear envelope 2							101	97	98					14																	64690055		2203	4300	6503	SO:0001583	missense	23224				centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding	g.chr14:64690055G>A	AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"nuclear envelope spectrin repeat-2", "nucleus and actin connecting element"	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.20270G>A	14.37:g.64690055G>A	ENSP00000341781:p.Arg6757Gln					SYNE2_ENST00000554805.1_Missense_Mutation_p.R540Q|SYNE2_ENST00000554584.1_Missense_Mutation_p.R6673Q|SYNE2_ENST00000555022.1_Missense_Mutation_p.R635Q|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000394768.2_Missense_Mutation_p.R3142Q|SYNE2_ENST00000358025.3_Missense_Mutation_p.R6780Q|SYNE2_ENST00000344113.4_Missense_Mutation_p.R6757Q|SYNE2_ENST00000441438.2_Missense_Mutation_p.R302Q|SYNE2_ENST00000555002.1_Missense_Mutation_p.R3414Q|SYNE2_ENST00000458046.2_Missense_Mutation_p.R428Q	p.R3142Q			Q8WXH0	SYNE2_HUMAN		all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)	113	20569	+			6757					Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Missense_Mutation	SNP	ENST00000344113.4	37	c.9425G>A	CCDS41963.1	.	.	.	.	.	.	.	.	.	.	G	6.975	0.549952	0.13374	.	.	ENSG00000054654	ENST00000358025;ENST00000357395;ENST00000344113;ENST00000554584;ENST00000261678;ENST00000555002;ENST00000394768;ENST00000555022;ENST00000554805;ENST00000458046;ENST00000441438	T;T;T;T;T;T;T;T;T;T	0.34072	1.38;1.38;1.38;1.38;1.38;1.38;1.38;1.38;1.38;1.38	6.03	-0.508	0.11980	.	0.542979	0.15274	N	0.271063	T	0.18383	0.0441	N	0.16478	0.41	0.29458	N	0.857993	B;B;B;B;B;B;B;B	0.18968	0.005;0.0;0.0;0.001;0.004;0.032;0.006;0.022	B;B;B;B;B;B;B;B	0.15052	0.002;0.0;0.001;0.004;0.001;0.002;0.002;0.012	T	0.20075	-1.0286	10	0.24483	T	0.36	.	7.5204	0.27624	0.2722:0.0:0.3173:0.4105	.	414;3142;302;428;1159;6673;6757;6780	B4DND7;Q8WXH0-7;Q8WXH0-6;Q8WXH0-5;Q7Z362;G3V5X4;Q8WXH0;Q8WXH0-2	.;.;.;.;.;.;SYNE2_HUMAN;.	Q	6780;3142;6757;6673;6679;3414;3142;635;540;428;302	ENSP00000350719:R6780Q;ENSP00000349969:R3142Q;ENSP00000341781:R6757Q;ENSP00000452570:R6673Q;ENSP00000450831:R3414Q;ENSP00000378249:R3142Q;ENSP00000451009:R635Q;ENSP00000450605:R540Q;ENSP00000391937:R428Q;ENSP00000396794:R302Q	ENSP00000261678:R6679Q	R	+	2	0	SYNE2	63759808	0.061000	0.20836	0.026000	0.17262	0.110000	0.19582	0.696000	0.25541	-0.306000	0.08818	-2.671000	0.00144	CGG		0.428	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276994.2	NM_182914		26	34	0	0	0	1	0	26	34					A	64690055	G	A	64690055	3	1	345	1	0	0	0	0	1	0	0	0	15443	1116	39	2	20827	2	SYNE2	14	64690055	Missense_Mutation	SNP	G	TCGA-KK-A8II-01A-11D-A364-08		64690055	42659485	29	17452											
ISM2	145501	broad.mit.edu	37	chr14	77948909	77948909	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagaggaaggaccagagggcGggcagccagctaagggtatc	12	3	17	9	1	0	2	0	0	0	2	1	4	0	4	2	5	2	3	2	5	3	2			TCGA-KK-A8II-01A-11D-A364-08	TCGA-KK-A8II-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	008659ce-78a0-4243-8cf4-bbfb8308e993	ff736958-09d1-4cb7-9fa5-5955bde500ff	g.chr14:77948909G>A	ENST00000342219.4	-	4	785	c.729C>T	c.(727-729)ccC>ccT	p.P243P	ISM2_ENST00000412904.1_Silent_p.P162P|ISM2_ENST00000429906.1_Silent_p.P162P|ISM2_ENST00000393684.3_Silent_p.P155P|ISM2_ENST00000493585.1_Intron	NM_199296.2	NP_954993.1	Q6H9L7	ISM2_HUMAN	isthmin 2	243						extracellular region (GO:0005576)				endometrium(3)|large_intestine(4)|lung(11)|prostate(1)|skin(1)|urinary_tract(1)	21						ACCAGAGGGCGGGCAGCCAGC	0.607																																						ENST00000393684.3																			0				endometrium(3)|large_intestine(4)|lung(11)|prostate(1)|skin(1)|urinary_tract(1)	21						c.(463-465)ccC>ccT		isthmin 2							81	89	87					14																	77948909		2203	4300	6503	SO:0001819	synonymous_variant	145501					extracellular region		g.chr14:77948909G>A	AK056709	CCDS9864.1, CCDS45143.1	14q24.3	2013-05-15	2013-05-15	2008-12-23	ENSG00000100593	ENSG00000100593			23176	protein-coding gene	gene with protein product	"thrombospondin and AMOP containing isthmin-like 1"	612684	"thrombospondin, type I domain-containing 3", "thrombospondin, type I, domain containing 3", "isthmin 2 homolog (zebrafish)"	THSD3		15194193	Standard	NM_199296		Approved	FLJ32147, TAIL1	uc001xtz.3	Q6H9L7	OTTHUMG00000158563	ENST00000342219.4:c.729C>T	14.37:g.77948909G>A						ISM2_ENST00000493585.1_Intron|ISM2_ENST00000342219.4_Silent_p.P243P|ISM2_ENST00000412904.1_Silent_p.P162P|ISM2_ENST00000429906.1_Silent_p.P162P	p.P155P			Q6H9L7	ISM2_HUMAN			5	856	-			243					A8K6D5|O95432|Q495U5|Q68CN3|Q86TQ7|Q86TW3|Q86TW4|Q8N501|Q8NBL0	Silent	SNP	ENST00000342219.4	37	c.465C>T	CCDS9864.1																																																																																				0.607	ISM2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000351309.1	NM_182509		27	37	0	0	0	1	0	27	37					A	77948909	G	A	77948909	2	1	345	1	0	0	0	0	0	0	0	1	7861	1103	39	2		2	ISM2	14	77948909	Silent	SNP	G	TCGA-KK-A8II-01A-11D-A364-08	13258854	77948909	29400631	30	17453											
ONECUT1	3175	broad.mit.edu	37	chr15	53081526	53081526	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gttgtggatgctgcccagacCggagctggagaggggcgaga	8	6	19	8	2	0	3	0	0	0	3	0	7	0	5	2	5	3	3	2	5	0	1			TCGA-KK-A8II-01A-11D-A364-08	TCGA-KK-A8II-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	008659ce-78a0-4243-8cf4-bbfb8308e993	ff736958-09d1-4cb7-9fa5-5955bde500ff	g.chr15:53081526C>T	ENST00000305901.5	-	1	683	c.556G>A	c.(556-558)Ggt>Agt	p.G186S	ONECUT1_ENST00000561401.2_Intron	NM_004498.2	NP_004489.1	Q9UBC0	HNF6_HUMAN	one cut homeobox 1	186					B cell differentiation (GO:0030183)|cell fate commitment (GO:0045165)|cilium assembly (GO:0042384)|endocrine pancreas development (GO:0031018)|endoderm development (GO:0007492)|epithelial cell development (GO:0002064)|glucose metabolic process (GO:0006006)|liver development (GO:0001889)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|positive regulation of cell migration (GO:0030335)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell-matrix adhesion (GO:0001952)|regulation of transcription, DNA-templated (GO:0006355)|spleen development (GO:0048536)	nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|prostate(2)|skin(1)	17				all cancers(107;0.0708)		CTGCCCAGACCGGAGCTGGAG	0.667																																						ENST00000305901.5																			0				endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|prostate(2)|skin(1)	17						c.(556-558)Ggt>Agt		one cut homeobox 1							40	54	49					15																	53081526		2191	4290	6481	SO:0001583	missense	3175				endocrine pancreas development	nucleus	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding	g.chr15:53081526C>T	U77975	CCDS10150.1	15q21.3	2012-03-09	2007-07-16		ENSG00000169856	ENSG00000169856		"Homeoboxes / CUT class"	8138	protein-coding gene	gene with protein product		604164	"one cut domain, family member 1"	HNF6, HNF6A		8887657, 8790352	Standard	NM_004498		Approved	HNF-6	uc002aci.2	Q9UBC0	OTTHUMG00000131899	ENST00000305901.5:c.556G>A	15.37:g.53081526C>T	ENSP00000302630:p.Gly186Ser					ONECUT1_ENST00000561401.2_Intron	p.G186S	NM_004498.2	NP_004489.1	Q9UBC0	HNF6_HUMAN		all cancers(107;0.0708)	1	683	-			186					B2RTV4|Q99744|Q9UMR6	Missense_Mutation	SNP	ENST00000305901.5	37	c.556G>A	CCDS10150.1	.	.	.	.	.	.	.	.	.	.	C	15.71	2.914273	0.52546	.	.	ENSG00000169856	ENST00000305901	T	0.52057	0.68	4.43	3.51	0.40186	.	0.000000	0.85682	D	0.000000	T	0.62780	0.2456	M	0.67397	2.05	0.80722	D	1	D	0.89917	1.0	D	0.76071	0.987	T	0.60929	-0.7165	10	0.34782	T	0.22	-5.8955	11.4805	0.50322	0.0:0.911:0.0:0.089	.	186	Q9UBC0	HNF6_HUMAN	S	186	ENSP00000302630:G186S	ENSP00000302630:G186S	G	-	1	0	ONECUT1	50868818	1.000000	0.71417	0.998000	0.56505	0.467000	0.32768	5.820000	0.69250	1.091000	0.41335	-0.172000	0.13284	GGT		0.667	ONECUT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254849.2			27	32	0	0	0	1	0	27	32					T	53081526	C	T	53081526	3	4	345	1	0	0	0	0	1	0	0	0	10868	652	23	2	849	2	ONECUT1	15	53081526	Missense_Mutation	SNP	C	TCGA-KK-A8II-01A-11D-A364-08		53081526	49449866	31	17454											
UNC13C	440279	broad.mit.edu	37	chr15	54307601	54307601	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttcattaatggggagatttcGgacattatctcaatcaactg	12	14	8	7	1	3	1	3	0	1	1	5	3	3	2	0	3	1	0	0	3	4	4	rs201822096	byFrequency	TCGA-KK-A8II-01A-11D-A364-08	TCGA-KK-A8II-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	008659ce-78a0-4243-8cf4-bbfb8308e993	ff736958-09d1-4cb7-9fa5-5955bde500ff	g.chr15:54307601G>A	ENST00000260323.11	+	1	2501	c.2501G>A	c.(2500-2502)cGg>cAg	p.R834Q	UNC13C_ENST00000537900.1_Missense_Mutation_p.R834Q|UNC13C_ENST00000545554.1_Missense_Mutation_p.R834Q	NM_001080534.1	NP_001074003.1	Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	834					exocytosis (GO:0006887)|intracellular signal transduction (GO:0035556)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)	p.R834Q(2)		breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		GGGAGATTTCGGACATTATCT	0.438													G|||	3	0.000599042	0	0	5008	,	,		17972	0.003		0	False		,,,				2504	0					ENST00000545554.1																			2	Substitution - Missense(2)	p.R834Q(2)	large_intestine(2)	breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121						c.(2500-2502)cGg>cAg		unc-13 homolog C (C. elegans)		G	GLN/ARG	0,3938		0,0,1969	83	82	83		2501	5.7	1	15		83	1,8309		0,1,4154	yes	missense	UNC13C	NM_001080534.1	43	0,1,6123	AA,AG,GG		0.012,0.0,0.0082	probably-damaging	834/2215	54307601	1,12247	1969	4155	6124	SO:0001583	missense	440279				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding	g.chr15:54307601G>A	AK091491	CCDS45264.1	15q21.3	2012-10-02			ENSG00000137766	ENSG00000137766			23149	protein-coding gene	gene with protein product		614568					Standard	NM_001080534		Approved	Munc13-3, DKFZp547H074	uc021smr.1	Q8NB66	OTTHUMG00000172542	ENST00000260323.11:c.2501G>A	15.37:g.54307601G>A	ENSP00000260323:p.Arg834Gln					UNC13C_ENST00000260323.11_Missense_Mutation_p.R834Q|UNC13C_ENST00000537900.1_Missense_Mutation_p.R834Q	p.R834Q			Q8NB66	UN13C_HUMAN		GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)	1	2501	+			834					Q0P613|Q8ND48|Q96NP3	Missense_Mutation	SNP	ENST00000260323.11	37	c.2501G>A	CCDS45264.1	3	0.0013736263736263737	0	0.0	0	0.0	3	0.005244755244755245	0	0.0	G	22.9	4.345264	0.82022	0.0	1.2E-4	ENSG00000137766	ENST00000260323;ENST00000545554;ENST00000537900	D;D;D	0.85629	-2.01;-2.0;-2.01	5.69	5.69	0.88448	.	.	.	.	.	T	0.81148	0.4762	L	0.29908	0.895	0.46011	D	0.998816	D	0.71674	0.998	P	0.52627	0.704	D	0.84538	0.0637	9	0.56958	D	0.05	.	18.7937	0.91985	0.0:0.0:1.0:0.0	.	834	Q8NB66	UN13C_HUMAN	Q	834	ENSP00000260323:R834Q;ENSP00000438156:R834Q;ENSP00000442569:R834Q	ENSP00000260323:R834Q	R	+	2	0	UNC13C	52094893	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.471000	0.97696	2.681000	0.91329	0.650000	0.86243	CGG		0.438	UNC13C-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000419028.3	NM_173166		13	13	0	0	0	1	0	13	13					A	54307601	G	A	54307601	3	1	345	1	0	0	0	0	1	0	0	0	16983	1116	39	2	2503	2	UNC13C	15	54307601	Missense_Mutation	SNP	G	TCGA-KK-A8II-01A-11D-A364-08	1226075	54307601	48223791	32	17455											
ACSBG1	23205	broad.mit.edu	37	chr15	78526789	78526789	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tggggtctctctgctgtccaGcatgctggggtccccgtgtg	2	12	15	12	1	2	0	0	0	2	0	5	0	4	0	3	4	3	3	3	4	0	0			TCGA-KK-A8II-01A-11D-A364-08	TCGA-KK-A8II-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	008659ce-78a0-4243-8cf4-bbfb8308e993	ff736958-09d1-4cb7-9fa5-5955bde500ff	g.chr15:78526789G>A	ENST00000258873.4	-	1	260	c.55C>T	c.(55-57)Ctg>Ttg	p.L19L	ACSBG1_ENST00000560817.1_Intron|ACSBG1_ENST00000558828.1_Intron|ACSBG1_ENST00000541759.1_5'UTR	NM_001199377.1|NM_015162.4	NP_001186306.1|NP_055977.3	Q96GR2	ACBG1_HUMAN	acyl-CoA synthetase bubblegum family member 1	19					long-chain fatty acid metabolic process (GO:0001676)|myelination (GO:0042552)|ovarian follicle atresia (GO:0001552)|response to glucocorticoid (GO:0051384)|very long-chain fatty acid metabolic process (GO:0000038)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)	ATP binding (GO:0005524)|long-chain fatty acid-CoA ligase activity (GO:0004467)|very long-chain fatty acid-CoA ligase activity (GO:0031957)			endometrium(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	37						CTGCTGTCCAGCATGCTGGGG	0.562																																						ENST00000258873.4																			0				endometrium(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	37						c.(55-57)Ctg>Ttg		acyl-CoA synthetase bubblegum family member 1							141	152	148					15																	78526789		2196	4293	6489	SO:0001819	synonymous_variant	23205				long-chain fatty acid metabolic process|myelination|very long-chain fatty acid metabolic process	cytoplasmic membrane-bounded vesicle|endoplasmic reticulum|microsome	ATP binding|long-chain fatty acid-CoA ligase activity|very long-chain fatty acid-CoA ligase activity	g.chr15:78526789G>A	AB014531	CCDS10298.1	15q23-q24	2006-02-09			ENSG00000103740	ENSG00000103740		"Acyl-CoA synthetase family"	29567	protein-coding gene	gene with protein product	"bubblegum", "very long-chain acyl-CoA synthetase", "lipidosin"	614362				9734811, 10954726	Standard	NM_015162		Approved	BGM, FLJ30320, MGC14352, BG1, KIAA0631, hBG1, hsBG	uc002bdh.3	Q96GR2	OTTHUMG00000143734	ENST00000258873.4:c.55C>T	15.37:g.78526789G>A						ACSBG1_ENST00000558828.1_Intron|ACSBG1_ENST00000541759.1_5'UTR|ACSBG1_ENST00000560817.1_Intron	p.L19L	NM_001199377.1|NM_015162.4	NP_001186306.1|NP_055977.3	Q96GR2	ACBG1_HUMAN			1	260	-			19					B2RB61|O75126|Q76N27|Q9HC26	Silent	SNP	ENST00000258873.4	37	c.55C>T	CCDS10298.1																																																																																				0.562	ACSBG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000289802.2	NM_015162		76	105	0	0	0	1	0	76	105					A	78526789	G	A	78526789	2	1	345	1	0	0	0	0	0	0	0	1	173	962	34	3		3	ACSBG1	15	78526789	Silent	SNP	G	TCGA-KK-A8II-01A-11D-A364-08	24219188	78526789	24004603	33	17456											
RPL3L	6123	broad.mit.edu	37	chr16	1997042	1997042	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cgccaatgcaggccaccttgCgcaggcccttatgggtcttc	6	9	11	15	2	1	0	0	0	1	0	2	0	1	0	4	3	2	2	4	3	2	3	rs149043671	byFrequency	TCGA-KK-A8II-01A-11D-A364-08	TCGA-KK-A8II-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	008659ce-78a0-4243-8cf4-bbfb8308e993	ff736958-09d1-4cb7-9fa5-5955bde500ff	g.chr16:1997042C>T	ENST00000268661.7	-	6	840	c.746G>A	c.(745-747)cGc>cAc	p.R249H		NM_005061.2	NP_005052.1	Q92901	RL3L_HUMAN	ribosomal protein L3-like	249					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|membrane (GO:0016020)|ribosome (GO:0005840)	RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	17						GGCCACCTTGCGCAGGCCCTT	0.672													C|||	2	0.000399361	8e-04	0	5008	,	,		18625	0		0	False		,,,				2504	0.001					ENST00000268661.7																			0				NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	17						c.(745-747)cGc>cAc		ribosomal protein L3-like		C	HIS/ARG	3,4395	6.2+/-15.9	0,3,2196	55	58	57		746	4	1	16	dbSNP_134	57	2,8598	2.2+/-6.3	0,2,4298	yes	missense	RPL3L	NM_005061.2	29	0,5,6494	TT,TC,CC		0.0233,0.0682,0.0385	possibly-damaging	249/408	1997042	5,12993	2199	4300	6499	SO:0001583	missense	6123				endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosol|ribosome	RNA binding|structural constituent of ribosome	g.chr16:1997042C>T	U65581	CCDS10450.1	16p13.3	2008-02-05			ENSG00000140986	ENSG00000140986		"L ribosomal proteins"	10351	protein-coding gene	gene with protein product						8921388	Standard	NM_005061		Approved		uc002cnh.3	Q92901	OTTHUMG00000128685	ENST00000268661.7:c.746G>A	16.37:g.1997042C>T	ENSP00000268661:p.Arg249His						p.R249H	NM_005061.2	NP_005052.1	Q92901	RL3L_HUMAN			6	840	-			249						Missense_Mutation	SNP	ENST00000268661.7	37	c.746G>A	CCDS10450.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	16.65	3.182570	0.57800	6.82E-4	2.33E-4	ENSG00000140986	ENST00000268661	T	0.56611	0.45	4.92	3.97	0.46021	Translation elongation/initiation factor/Ribosomal, beta-barrel (1);	0.000000	0.85682	D	0.000000	T	0.79540	0.4463	H	0.96269	3.795	0.80722	D	1	D	0.76494	0.999	D	0.72338	0.977	D	0.85301	0.1073	10	0.87932	D	0	-17.0973	12.5964	0.56472	0.0:0.9191:0.0:0.0809	.	249	Q92901	RL3L_HUMAN	H	249	ENSP00000268661:R249H	ENSP00000268661:R249H	R	-	2	0	RPL3L	1937043	1.000000	0.71417	1.000000	0.80357	0.020000	0.10135	7.729000	0.84864	1.195000	0.43115	-0.136000	0.14681	CGC		0.672	RPL3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250582.2	NM_005061		24	33	0	0	0	1	0	24	33					T	1997042	C	T	1997042	3	4	345	1	0	0	0	0	1	0	0	0	13594	768	27	1	497	1	RPL3L	16	1997042	Missense_Mutation	SNP	C	TCGA-KK-A8II-01A-11D-A364-08		1997042	88357711	34	17457											
HSD3B7	80270	broad.mit.edu	37	chr16	30999231	30999231	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atggagttcctgggcccctgCggactgcggctggtgggcgc	3	8	18	12	3	0	0	0	0	0	0	1	2	1	2	3	6	2	2	3	6	0	1	rs376286513		TCGA-KK-A8II-01A-11D-A364-08	TCGA-KK-A8II-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	008659ce-78a0-4243-8cf4-bbfb8308e993	ff736958-09d1-4cb7-9fa5-5955bde500ff	g.chr16:30999231C>T	ENST00000297679.5	+	7	930	c.837C>T	c.(835-837)tgC>tgT	p.C279C	AC135048.1_ENST00000602217.1_5'Flank|HSD3B7_ENST00000353250.5_3'UTR|HSD3B7_ENST00000262520.6_3'UTR	NM_025193.3	NP_079469.2	Q9H2F3	3BHS7_HUMAN	hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7	279					bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	3-beta-hydroxy-delta5-steroid dehydrogenase activity (GO:0003854)|cholest-5-ene-3-beta,7-alpha-diol 3-beta-dehydrogenase activity (GO:0047016)			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						TGGGCCCCTGCGGACTGCGGC	0.642																																						ENST00000297679.5																			0				central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						c.(835-837)tgC>tgT		hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7		C	,,	1,4393	2.1+/-5.4	0,1,2196	108	113	111		,,837	-9.7	0.4	16		111	0,8600		0,0,4300	no	utr-3,utr-3,coding-synonymous	HSD3B7	NM_001142777.1,NM_001142778.1,NM_025193.3	,,	0,1,6496	TT,TC,CC		0.0,0.0228,0.0077	,,	,,279/370	30999231	1,12993	2197	4300	6497	SO:0001819	synonymous_variant	80270				bile acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|cholest-5-ene-3-beta,7-alpha-diol 3-beta-dehydrogenase activity	g.chr16:30999231C>T	AF277719	CCDS10698.1, CCDS45466.1	16p11.2	2011-09-14			ENSG00000099377	ENSG00000099377	1.1.1.-	"Short chain dehydrogenase/reductase superfamily / Extended SDR fold"	18324	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 11E, member 3"	607764				11067870, 19027726	Standard	NM_001142777		Approved	C(27)-3BETA-HSD, SDR11E3	uc002eaf.2	Q9H2F3	OTTHUMG00000132417	ENST00000297679.5:c.837C>T	16.37:g.30999231C>T						HSD3B7_ENST00000353250.5_3'UTR|HSD3B7_ENST00000262520.6_3'UTR	p.C279C	NM_025193.3	NP_079469.2	Q9H2F3	3BHS7_HUMAN			7	930	+			279					Q96M28|Q9BSN9	Silent	SNP	ENST00000297679.5	37	c.837C>T	CCDS10698.1																																																																																				0.642	HSD3B7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255554.2			4	123	0	0	0	1	0	4	123					T	30999231	C	T	30999231	2	4	345	1	0	0	0	0	0	0	0	1	7392	776	27	1		1	HSD3B7	16	30999231	Silent	SNP	C	TCGA-KK-A8II-01A-11D-A364-08	29002189	30999231	59355522	35	17458											
ATP1B2	482	broad.mit.edu	37	chr17	7559196	7559196	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gccgcgtggccttcaaactcCgcatcaacaaaacctgaggc	11	6	9	15	3	2	1	2	1	0	0	3	1	3	1	4	2	3	1	4	2	4	1	rs200828135		TCGA-KK-A8II-01A-11D-A364-08	TCGA-KK-A8II-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	008659ce-78a0-4243-8cf4-bbfb8308e993	ff736958-09d1-4cb7-9fa5-5955bde500ff	g.chr17:7559196C>T	ENST00000250111.4	+	7	1263	c.856C>T	c.(856-858)Cgc>Tgc	p.R286C		NM_001678.3	NP_001669.3	P14415	AT1B2_HUMAN	ATPase, Na+/K+ transporting, beta 2 polypeptide	286	immunoglobulin-like.				blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular potassium ion homeostasis (GO:0030007)|cellular sodium ion homeostasis (GO:0006883)|ion transmembrane transport (GO:0034220)|leukocyte migration (GO:0050900)|membrane repolarization (GO:0086009)|positive regulation of ATP catabolic process (GO:1903291)|positive regulation of ATPase activity (GO:0032781)|positive regulation of potassium ion import (GO:1903288)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of sodium ion export from cell (GO:1903278)|potassium ion import (GO:0010107)|protein stabilization (GO:0050821)|sodium ion export from cell (GO:0036376)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|sodium:potassium-exchanging ATPase complex (GO:0005890)	ATPase activator activity (GO:0001671)|ATPase binding (GO:0051117)|sodium:potassium-exchanging ATPase activity (GO:0005391)	p.0?(2)|p.R286C(1)|p.?(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|pancreas(1)	10		all_cancers(10;0.000178)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;2.55e-06)|READ - Rectum adenocarcinoma(115;0.168)		CTTCAAACTCCGCATCAACAA	0.602																																						ENST00000250111.4																			4	Whole gene deletion(2)|Substitution - Missense(1)|Unknown(1)	p.0?(2)|p.R286C(1)|p.?(1)	haematopoietic_and_lymphoid_tissue(2)|central_nervous_system(1)|bone(1)	central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|pancreas(1)	10						c.(856-858)Cgc>Tgc		ATPase, Na+/K+ transporting, beta 2 polypeptide		C	CYS/ARG	0,4406		0,0,2203	62	56	58		856	3.7	1	17		58	1,8599	1.2+/-3.3	0,1,4299	no	missense	ATP1B2	NM_001678.3	180	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	286/291	7559196	1,13005	2203	4300	6503	SO:0001583	missense	482				ATP biosynthetic process|blood coagulation|leukocyte migration	integral to membrane|plasma membrane	protein binding|sodium:potassium-exchanging ATPase activity	g.chr17:7559196C>T	U45945	CCDS32550.1	17p13.1	2012-10-22			ENSG00000129244	ENSG00000129244	3.6.3.9	"ATPases / P-type"	805	protein-coding gene	gene with protein product	"sodium/potassium-transporting ATPase subunit beta-2", "sodium pump subunit beta-2", "sodium-potassium ATPase subunit beta 2 (non-catalytic)"	182331				1699290	Standard	NM_001678		Approved	AMOG	uc002gif.1	P14415		ENST00000250111.4:c.856C>T	17.37:g.7559196C>T	ENSP00000250111:p.Arg286Cys						p.R286C	NM_001678.3	NP_001669.3	P14415	AT1B2_HUMAN		GBM - Glioblastoma multiforme(2;2.55e-06)|READ - Rectum adenocarcinoma(115;0.168)	7	1263	+		all_cancers(10;0.000178)|Prostate(122;0.081)	286					A0AV17|A8K278|D3DTQ2|O60444	Missense_Mutation	SNP	ENST00000250111.4	37	c.856C>T	CCDS32550.1	.	.	.	.	.	.	.	.	.	.	C	16.44	3.123745	0.56613	0.0	1.16E-4	ENSG00000129244	ENST00000250111	T	0.32272	1.46	4.67	3.7	0.42460	.	0.057484	0.64402	D	0.000004	T	0.44286	0.1286	M	0.62723	1.935	0.53688	D	0.999974	D	0.76494	0.999	P	0.57846	0.828	T	0.39542	-0.9609	10	0.56958	D	0.05	2.3788	10.4258	0.44378	0.0:0.9043:0.0:0.0957	.	286	P14415	AT1B2_HUMAN	C	286	ENSP00000250111:R286C	ENSP00000250111:R286C	R	+	1	0	ATP1B2	7499921	1.000000	0.71417	0.999000	0.59377	0.402000	0.30811	2.839000	0.48207	1.182000	0.42928	0.313000	0.20887	CGC		0.602	ATP1B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440234.1	NM_001678		6	2	0	0	0	1	0	6	2					T	7559196	C	T	7559196	3	4	345	1	0	0	0	0	1	0	0	0	1133	652	23	2	882	2	ATP1B2	17	7559196	Missense_Mutation	SNP	C	TCGA-KK-A8II-01A-11D-A364-08		7559196	73636014	36	17459											
TP53	7157	broad.mit.edu	37	chr17	7578555	7578556	+	Splice_Site	DEL	CT	CT	-																															ttgttgagggcaggggagtaCtgtaggaagaggaaggagac																										TCGA-KK-A8II-01A-11D-A364-08	TCGA-KK-A8II-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	008659ce-78a0-4243-8cf4-bbfb8308e993	ff736958-09d1-4cb7-9fa5-5955bde500ff	g.chr17:7578555_7578556delCT	ENST00000269305.4	-	5	565		c.e5-1		TP53_ENST00000420246.2_Splice_Site|TP53_ENST00000413465.2_Splice_Site|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000359597.4_Splice_Site|TP53_ENST00000455263.2_Splice_Site|TP53_ENST00000445888.2_Splice_Site	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53						apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.?(72)|p.0?(8)|p.V73fs*9(1)|p.Y126fs*11(1)|p.P13fs*18(1)|p.T125_Y126insX(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	CAGGGGAGTACTGTAGGAAGAG	0.554		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"Mis, N, F"	tumor protein p53			"L, E, M, O"		"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"	"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"		84	Unknown(72)|Whole gene deletion(8)|Deletion - Frameshift(3)|Insertion - In frame(1)	p.?(72)|p.0?(8)|p.V73fs*9(1)|p.Y126fs*11(1)|p.P13fs*18(1)|p.T125_Y126insX(1)	lung(21)|ovary(13)|breast(11)|pancreas(6)|upper_aerodigestive_tract(5)|central_nervous_system(5)|oesophagus(5)|bone(5)|liver(4)|large_intestine(3)|haematopoietic_and_lymphoid_tissue(2)|stomach(1)|endometrium(1)|urinary_tract(1)|autonomic_ganglia(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185						c.e5-1	Other conserved DNA damage response genes	tumor protein p53																																				SO:0001630	splice_region_variant	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578555_7578556delCT	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"Li-Fraumeni syndrome"	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.376-1AG>-	17.37:g.7578555_7578556delCT		HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_ENST00000359597.4_Splice_Site|TP53_ENST00000455263.2_Splice_Site|TP53_ENST00000269305.4_Splice_Site|TP53_ENST00000413465.2_Splice_Site|TP53_ENST00000445888.2_Splice_Site		NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	5	508	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)						Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Splice_Site	DEL	ENST00000269305.4	37		CCDS11118.1																																																																																				0.554	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546	Intron	6	5						6	5	---	---	---	---	-	7578556	CT	-	7578555	8	5	345	1	0	1	0	1	0	0	1	0	16378	579	20	0	923	0	TP53	17	7578555	Splice_Site	DEL	CT	TCGA-KK-A8II-01A-11D-A364-08	19359	7578555	73616655	37	17460											
SEH1L	81929	broad.mit.edu	37	chr18	12955541	12955541	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggcttcctgttcttttgaccGaacagctgctgtatgggaag	7	13	12	9	1	1	1	0	1	1	0	2	3	2	2	2	2	3	5	2	2	3	5			TCGA-KK-A8II-01A-11D-A364-08	TCGA-KK-A8II-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	008659ce-78a0-4243-8cf4-bbfb8308e993	ff736958-09d1-4cb7-9fa5-5955bde500ff	g.chr18:12955541G>A	ENST00000262124.11	+	3	369	c.242G>A	c.(241-243)cGa>cAa	p.R81Q	SEH1L_ENST00000399892.2_Missense_Mutation_p.R81Q	NM_031216.3	NP_112493.2	Q96EE3	SEH1_HUMAN	SEH1-like (S. cerevisiae)	81					attachment of spindle microtubules to kinetochore involved in mitotic sister chromatid segregation (GO:0051315)|carbohydrate metabolic process (GO:0005975)|cytokine production involved in inflammatory response (GO:0002534)|cytokine-mediated signaling pathway (GO:0019221)|defense response to Gram-positive bacterium (GO:0050830)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic metaphase plate congression (GO:0007080)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|nuclear pore organization (GO:0006999)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|kinetochore (GO:0000776)|nuclear envelope (GO:0005635)|nuclear pore outer ring (GO:0031080)				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(5)|pancreas(1)|prostate(1)	11						TCTTTTGACCGAACAGCTGCT	0.453																																						ENST00000262124.11																			0				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(5)|pancreas(1)|prostate(1)	11						c.(241-243)cGa>cAa		SEH1-like (S. cerevisiae)							144	128	133					18																	12955541		2203	4300	6503	SO:0001583	missense	81929				attachment of spindle microtubules to kinetochore involved in mitotic sister chromatid segregation|carbohydrate metabolic process|cell division|glucose transport|mitotic metaphase plate congression|mitotic prometaphase|mRNA transport|nuclear pore organization|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex		g.chr18:12955541G>A	BC012430	CCDS32791.1, CCDS45832.1	18p11.21	2013-01-10				ENSG00000085415		"WD repeat domain containing"	30379	protein-coding gene	gene with protein product	"sec13 like protein", "nucleoporin Seh1"	609263				12196509, 14517296	Standard	XM_005258152		Approved	SEH1A, SEH1B, Seh1, SEC13L	uc002krq.3	Q96EE3		ENST00000262124.11:c.242G>A	18.37:g.12955541G>A	ENSP00000262124:p.Arg81Gln					SEH1L_ENST00000399892.2_Missense_Mutation_p.R81Q	p.R81Q	NM_031216.3	NP_112493.2	Q96EE3	SEH1_HUMAN			3	369	+			81					A8K5B1|Q8NFU6|Q96MH3|Q9C069	Missense_Mutation	SNP	ENST00000262124.11	37	c.242G>A	CCDS45832.1	.	.	.	.	.	.	.	.	.	.	G	35	5.509864	0.96386	.	.	ENSG00000085415	ENST00000399892;ENST00000262124	T;T	0.61510	0.1;0.1	5.89	5.02	0.67125	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.68192	0.2974	L	0.49699	1.58	0.80722	D	1	D;D	0.69078	0.989;0.997	P;P	0.61592	0.846;0.891	T	0.71080	-0.4696	10	0.62326	D	0.03	-0.8208	14.9639	0.71176	0.0683:0.0:0.9317:0.0	.	81;81	Q96EE3;Q96EE3-1	SEH1_HUMAN;.	Q	81	ENSP00000382779:R81Q;ENSP00000262124:R81Q	ENSP00000262124:R81Q	R	+	2	0	SEH1L	12945541	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.376000	0.97181	1.485000	0.48380	0.655000	0.94253	CGA		0.453	SEH1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458254.1	NM_031216		3	50	0	0	0	1	0	3	50					A	12955541	G	A	12955541	3	1	345	1	0	0	0	0	1	0	0	0	14009	1058	37	2	252	2	SEH1L	18	12955541	Missense_Mutation	SNP	G	TCGA-KK-A8II-01A-11D-A364-08		12955541	65121707	38	17461											
EMILIN3	90187	broad.mit.edu	37	chr20	39990606	39990606	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ctgccaggccttcacctctgCcacgaggctgtccaggatgg	6	8	12	15	1	2	0	1	0	1	0	3	2	3	1	5	4	2	1	5	4	0	1			TCGA-KK-A8II-01A-11D-A364-08	TCGA-KK-A8II-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	008659ce-78a0-4243-8cf4-bbfb8308e993	ff736958-09d1-4cb7-9fa5-5955bde500ff	g.chr20:39990606C>T	ENST00000332312.3	-	4	1795	c.1603G>A	c.(1603-1605)Gca>Aca	p.A535T		NM_052846.1	NP_443078.1	Q9NT22	EMIL3_HUMAN	elastin microfibril interfacer 3	535						cytoplasm (GO:0005737)|proteinaceous extracellular matrix (GO:0005578)				biliary_tract(1)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(15)|ovary(1)|prostate(2)|skin(3)|urinary_tract(2)	30		Myeloproliferative disorder(115;0.00425)				TTCACCTCTGCCACGAGGCTG	0.642																																						ENST00000332312.3																			0				biliary_tract(1)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(15)|ovary(1)|prostate(2)|skin(3)|urinary_tract(2)	30						c.(1603-1605)Gca>Aca		elastin microfibril interfacer 3							53	55	55					20																	39990606		2203	4300	6503	SO:0001583	missense	90187					proteinaceous extracellular matrix		g.chr20:39990606C>T	AL031667	CCDS13316.1	20q12	2005-11-06	2004-03-02	2004-03-02	ENSG00000183798	ENSG00000183798		"EMI domain containing"	16123	protein-coding gene	gene with protein product	"chromosome 20 open reading frame 130"	608929	"elastin microfibril interfacer 5"	C20orf130, EMILIN5		12221002	Standard	NM_052846		Approved	dJ620E11.4	uc002xjy.1	Q9NT22	OTTHUMG00000046304	ENST00000332312.3:c.1603G>A	20.37:g.39990606C>T	ENSP00000332806:p.Ala535Thr						p.A535T	NM_052846.1	NP_443078.1	Q9NT22	EMIL3_HUMAN			4	1795	-		Myeloproliferative disorder(115;0.00425)	535					Q495S5|Q495S6|Q495S7|Q76KT4	Missense_Mutation	SNP	ENST00000332312.3	37	c.1603G>A	CCDS13316.1	.	.	.	.	.	.	.	.	.	.	C	0.018	-1.468815	0.01053	.	.	ENSG00000183798	ENST00000332312	T	0.13196	2.61	4.86	-2.13	0.07144	.	0.529823	0.19065	N	0.123659	T	0.06781	0.0173	N	0.24115	0.695	0.09310	N	1	B	0.12630	0.006	B	0.13407	0.009	T	0.35624	-0.9781	9	.	.	.	-0.4294	6.4816	0.22065	0.1181:0.3842:0.0:0.4977	.	535	Q9NT22	EMIL3_HUMAN	T	535	ENSP00000332806:A535T	.	A	-	1	0	EMILIN3	39424020	0.018000	0.18449	0.004000	0.12327	0.542000	0.35054	0.210000	0.17455	-0.410000	0.07542	0.561000	0.74099	GCA		0.642	EMILIN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106876.2	XM_029741		7	61	0	0	0	1	0	7	61					T	39990606	C	T	39990606	3	4	345	1	0	0	0	0	1	0	0	0	5095	739	26	3	701	3	EMILIN3	20	39990606	Missense_Mutation	SNP	C	TCGA-KK-A8II-01A-11D-A364-08		39990606	23034914	39	17462											
ITSN1	6453	broad.mit.edu	37	chr21	35190641	35190641	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	caaaaaagacaaccacttaaAttttaacaaaaatgatgtca	22	9	3	7	0	1	2	1	1	0	1	1	2	1	2	1	0	2	0	1	0	9	3			TCGA-KK-A8II-01A-11D-A364-08	TCGA-KK-A8II-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	008659ce-78a0-4243-8cf4-bbfb8308e993	ff736958-09d1-4cb7-9fa5-5955bde500ff	g.chr21:35190641A>C	ENST00000381318.3	+	23	3086	c.2798A>C	c.(2797-2799)aAt>aCt	p.N933T	ITSN1_ENST00000399326.3_Missense_Mutation_p.N928T|ITSN1_ENST00000399349.1_Missense_Mutation_p.N928T|ITSN1_ENST00000399367.3_Missense_Mutation_p.N928T|ITSN1_ENST00000379960.5_Intron|ITSN1_ENST00000381291.4_Missense_Mutation_p.N933T|AP000304.12_ENST00000429238.1_Intron|ITSN1_ENST00000399355.2_Missense_Mutation_p.N933T|ITSN1_ENST00000381285.4_Missense_Mutation_p.N933T|ITSN1_ENST00000437442.2_Missense_Mutation_p.N928T|ITSN1_ENST00000399352.1_Missense_Mutation_p.N928T|ITSN1_ENST00000399353.1_Missense_Mutation_p.N891T	NM_003024.2	NP_003015.2	Q15811	ITSN1_HUMAN	intersectin 1 (SH3 domain protein)	933	SH3 2. {ECO:0000255|PROSITE- ProRule:PRU00192}.				apoptotic signaling pathway (GO:0097190)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|synaptic vesicle endocytosis (GO:0048488)	cell junction (GO:0030054)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|lamellipodium (GO:0030027)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)	calcium ion binding (GO:0005509)|guanyl-nucleotide exchange factor activity (GO:0005085)|kinase activator activity (GO:0019209)|proline-rich region binding (GO:0070064)|protein complex scaffold (GO:0032947)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(26)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	67						AACCACTTAAATTTTAACAAA	0.453																																						ENST00000381318.3																			0				breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(26)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	67						c.(2797-2799)aAt>aCt		intersectin 1 (SH3 domain protein)							129	125	127					21																	35190641		2203	4300	6503	SO:0001583	missense	6453				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic vesicle endocytosis	cell junction|coated pit|cytosol|lamellipodium|synapse|synaptosome	calcium ion binding|proline-rich region binding|protein complex scaffold|Rho guanyl-nucleotide exchange factor activity	g.chr21:35190641A>C	AF064244	CCDS33545.1, CCDS33546.1	21q22.1-q22.2	2013-01-10			ENSG00000205726	ENSG00000205726		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing", "EF-hand domain containing"	6183	protein-coding gene	gene with protein product	"SH3 domain protein-1A", "human intersectin-SH3 domain-containing protein SH3P17", "Src homology 3 domain-containing protein", "intersectin 1 short form variant, 11", "intersectin 1 short form variant 3", "intersectin short variant 12"	602442		SH3D1A, ITSN		9799604, 9813051	Standard	NM_003024		Approved	SH3P17, MGC134948, MGC134949	uc002yta.1	Q15811	OTTHUMG00000065284	ENST00000381318.3:c.2798A>C	21.37:g.35190641A>C	ENSP00000370719:p.Asn933Thr					ITSN1_ENST00000381285.4_Missense_Mutation_p.N933T|ITSN1_ENST00000399326.3_Missense_Mutation_p.N928T|ITSN1_ENST00000399352.1_Missense_Mutation_p.N928T|ITSN1_ENST00000381291.4_Missense_Mutation_p.N933T|ITSN1_ENST00000399355.2_Missense_Mutation_p.N933T|ITSN1_ENST00000399349.1_Missense_Mutation_p.N928T|AP000304.12_ENST00000429238.1_Intron|ITSN1_ENST00000437442.2_Missense_Mutation_p.N928T|ITSN1_ENST00000379960.5_Intron|ITSN1_ENST00000399367.3_Missense_Mutation_p.N928T|ITSN1_ENST00000399353.1_Missense_Mutation_p.N891T	p.N933T	NM_003024.2	NP_003015.2	Q15811	ITSN1_HUMAN			23	3086	+			933			SH3 2.		A7Y322|A8CTX8|A8CTY3|A8CTY7|A8D7D0|A8DCP3|B4DTM2|E7ERJ1|E9PE44|E9PG01|E9PHV2|O95216|Q0PW94|Q0PW95|Q0PW97|Q14BD3|Q1ED40|Q20BK3|Q9UET5|Q9UK60|Q9UNK1|Q9UNK2|Q9UQ92	Missense_Mutation	SNP	ENST00000381318.3	37	c.2798A>C	CCDS33545.1	.	.	.	.	.	.	.	.	.	.	A	26.3	4.725682	0.89298	.	.	ENSG00000205726	ENST00000399353;ENST00000381318;ENST00000381291;ENST00000381285;ENST00000381288;ENST00000381289;ENST00000399367;ENST00000399352;ENST00000399355;ENST00000399349;ENST00000437442;ENST00000399326	T;T;T;T;T;T;T;T;T;T	0.27256	1.68;1.68;1.68;1.68;1.68;1.68;1.68;1.68;1.68;1.68	5.75	5.75	0.90469	Src homology-3 domain (4);	0.000000	0.85682	D	0.000000	T	0.32526	0.0832	N	0.10760	0.04	0.80722	D	1	B;D;B;D;B;D;D;B;D	0.76494	0.024;0.999;0.233;0.999;0.02;0.999;0.999;0.019;0.99	B;D;B;D;B;D;D;B;D	0.91635	0.023;0.999;0.315;0.998;0.032;0.998;0.998;0.013;0.928	T	0.42799	-0.9430	10	0.59425	D	0.04	.	16.0623	0.80847	1.0:0.0:0.0:0.0	.	896;896;891;928;933;928;933;928;891	A8D7D0;A7XZY7;A8CTY7;A8CTY3;F8W7U0;A8CTX8;Q15811;Q15811-3;E7ERJ0	.;.;.;.;.;.;ITSN1_HUMAN;.;.	T	891;933;933;933;933;928;928;928;933;928;928;928	ENSP00000382290:N891T;ENSP00000370719:N933T;ENSP00000370691:N933T;ENSP00000370685:N933T;ENSP00000382301:N928T;ENSP00000382289:N928T;ENSP00000382292:N933T;ENSP00000382286:N928T;ENSP00000387377:N928T;ENSP00000382265:N928T	ENSP00000370685:N933T	N	+	2	0	ITSN1	34112511	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	8.930000	0.92872	2.196000	0.70406	0.374000	0.22700	AAT		0.453	ITSN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000140070.4	NM_003024		6	59	0	0	0	1	0	6	59					C	35190641	A	C	35190641	3	2	345	1	0	0	0	0	1	0	0	0	7926	101	4	5	2884	5	ITSN1	21	35190641	Missense_Mutation	SNP	A	TCGA-KK-A8II-01A-11D-A364-08		35190641	12939254	40	17463											
CACNG2	10369	broad.mit.edu	37	chr22	36960758	36960758	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gtggcccgcagctgtttgtgCcggtcgataaacatgtgcac	7	10	13	11	3	0	0	0	0	0	0	1	1	0	0	2	2	4	4	2	2	2	2	rs190739501		TCGA-KK-A8II-01A-11D-A364-08	TCGA-KK-A8II-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	008659ce-78a0-4243-8cf4-bbfb8308e993	ff736958-09d1-4cb7-9fa5-5955bde500ff	g.chr22:36960758C>T	ENST00000300105.6	-	4	1593	c.612G>A	c.(610-612)cgG>cgA	p.R204R	RP5-1119A7.17_ENST00000562756.1_RNA	NM_006078.3	NP_006069.1	Q9Y698	CCG2_HUMAN	calcium channel, voltage-dependent, gamma subunit 2	204					membrane depolarization (GO:0051899)|membrane hyperpolarization (GO:0060081)|neuromuscular junction development (GO:0007528)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|synaptic transmission (GO:0007268)|transmission of nerve impulse (GO:0019226)|transport (GO:0006810)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|endocytic vesicle membrane (GO:0030666)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	18						GCTGTTTGTGCCGGTCGATAA	0.637																																						ENST00000300105.6																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	18						c.(610-612)cgG>cgA		calcium channel, voltage-dependent, gamma subunit 2							97	113	107					22																	36960758		2203	4300	6503	SO:0001819	synonymous_variant	10369				membrane depolarization|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity	g.chr22:36960758C>T	AF096322	CCDS13931.1	22q13.1	2006-08-01			ENSG00000166862	ENSG00000166862		"Calcium channel subunits"	1406	protein-coding gene	gene with protein product		602911					Standard	NM_006078		Approved	stargazin, MGC138502, MGC138504	uc003aps.2	Q9Y698	OTTHUMG00000030612	ENST00000300105.6:c.612G>A	22.37:g.36960758C>T							p.R204R	NM_006078.3	NP_006069.1	Q9Y698	CCG2_HUMAN			4	1593	-			204					Q2M1M1|Q5TGT3|Q9UGZ7	Silent	SNP	ENST00000300105.6	37	c.612G>A	CCDS13931.1																																																																																				0.637	CACNG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075500.2			4	165	0	0	0	1	0	4	165					T	36960758	C	T	36960758	2	4	345	1	0	0	0	0	0	0	0	1	2557	726	26	3		3	CACNG2	22	36960758	Silent	SNP	C	TCGA-KK-A8II-01A-11D-A364-08		36960758	14343808	41	17464											
ZNF711	7552	broad.mit.edu	37	chrX	84526039	84526039	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttaaacaggcatttgttggcCgttcacagcaagaattttcc	11	13	8	9	1	1	1	1	0	0	1	2	1	2	1	2	2	2	4	2	2	4	6			TCGA-KK-A8II-01A-11D-A364-08	TCGA-KK-A8II-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	008659ce-78a0-4243-8cf4-bbfb8308e993	ff736958-09d1-4cb7-9fa5-5955bde500ff	g.chrX:84526039C>T	ENST00000373165.3	+	9	1797	c.1491C>T	c.(1489-1491)gcC>gcT	p.A497A	ZNF711_ENST00000395402.1_Silent_p.A505A|ZNF711_ENST00000360700.4_Silent_p.A543A|ZNF711_ENST00000542798.1_Silent_p.A339A|ZNF711_ENST00000276123.3_Silent_p.A497A	NM_021998.4	NP_068838.3	Q9Y462	ZN711_HUMAN	zinc finger protein 711	497					positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(3)|skin(4)	28						ATTTGTTGGCCGTTCACAGCA	0.408																																						ENST00000360700.4																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(3)|skin(4)	28						c.(1627-1629)gcC>gcT		zinc finger protein 711							92	75	81					X																	84526039		2203	4300	6503	SO:0001819	synonymous_variant	7552				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding|zinc ion binding	g.chrX:84526039C>T	BC006349	CCDS35344.1	Xq21.1	2014-02-19	2006-06-29	2006-06-29	ENSG00000147180	ENSG00000147180		"Zinc fingers, C2H2-type"	13128	protein-coding gene	gene with protein product		314990	"zinc finger protein 6 (CMPX1)", "zinc finger protein 6"	ZNF6		19377476	Standard	XM_005262186		Approved	CMPX1, ZNF4, ZNF5, dJ75N13.1, Zfp711, MRX97	uc004eeo.3	Q9Y462	OTTHUMG00000021933	ENST00000373165.3:c.1491C>T	X.37:g.84526039C>T						ZNF711_ENST00000542798.1_Silent_p.A339A|ZNF711_ENST00000373165.3_Silent_p.A497A|ZNF711_ENST00000395402.1_Silent_p.A505A|ZNF711_ENST00000276123.3_Silent_p.A497A	p.A543A			Q9Y462	ZN711_HUMAN			10	2515	+			497					B4DSV4|Q6NX42|Q9Y4J6	Silent	SNP	ENST00000373165.3	37	c.1629C>T	CCDS35344.1																																																																																				0.408	ZNF711-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057388.2	NM_021998		3	36	0	0	0	1	0	3	36					T	84526039	C	T	84526039	2	4	345	1	0	0	0	0	0	0	0	1	18113	639	23	2		2	ZNF711	23	84526039	Silent	SNP	C	TCGA-KK-A8II-01A-11D-A364-08		84526039	70744521	42	17465											
TEX13A	56157	broad.mit.edu	37	chrX	104464700	104464700	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggtctgggccattcttagccGggaggccgcctccttgcgtt	3	11	14	13	3	2	0	0	0	2	0	3	1	3	1	5	4	2	1	5	4	1	4			TCGA-KK-A8II-01A-11D-A364-08	TCGA-KK-A8II-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	008659ce-78a0-4243-8cf4-bbfb8308e993	ff736958-09d1-4cb7-9fa5-5955bde500ff	g.chrX:104464700G>T	ENST00000413579.1	-	2	493	c.382C>A	c.(382-384)Cgg>Agg	p.R128R	TEX13A_ENST00000372578.3_Silent_p.R128R|IL1RAPL2_ENST00000344799.4_Intron|IL1RAPL2_ENST00000372582.1_Intron|TEX13A_ENST00000372575.1_Silent_p.R128R			Q9BXU3	TX13A_HUMAN	testis expressed 13A	128							zinc ion binding (GO:0008270)			large_intestine(5)|ovary(2)|upper_aerodigestive_tract(1)	8						ATTCTTAGCCGGGAGGCCGCC	0.592																																						ENST00000372578.3																			0				large_intestine(5)|ovary(2)|upper_aerodigestive_tract(1)	8						c.(382-384)Cgg>Agg		testis expressed 13A							36	37	36					X																	104464700		2140	4213	6353	SO:0001819	synonymous_variant	56157					intracellular	zinc ion binding	g.chrX:104464700G>T	AF285597	CCDS76005.1	Xq28	2012-04-20	2007-03-13		ENSG00000133149	ENSG00000268629			11735	protein-coding gene	gene with protein product		300312	"testis expressed sequence 13A"			11279525	Standard	NM_031274		Approved		uc004ema.3	Q9BXU3	OTTHUMG00000022133	ENST00000413579.1:c.382C>A	X.37:g.104464700G>T						TEX13A_ENST00000372575.1_Silent_p.R128R|TEX13A_ENST00000413579.1_Silent_p.R128R|IL1RAPL2_ENST00000372582.1_Intron|IL1RAPL2_ENST00000344799.4_Intron	p.R128R	NM_031274.3	NP_112564.1	Q9BXU3	TX13A_HUMAN			2	493	-			128					B1B1G8|Q32NB6	Silent	SNP	ENST00000413579.1	37	c.382C>A																																																																																					0.592	TEX13A-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_031274		3	22	1	0	0.004672	1	0.004672	3	22					T	104464700	G	T	104464700	2	4	345	1	0	0	0	0	0	0	0	1	15773	1115	39	5		5	TEX13A	23	104464700	Silent	SNP	G	TCGA-KK-A8II-01A-11D-A364-08	19938661	104464700	50805860	43	17466											
GLUD2	2747	broad.mit.edu	37	chrX	120182329	120182329	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	taaacccatcagccaaggggGaatccatggacgcatctctg	12	7	10	12	1	2	0	1	0	1	0	4	2	3	2	3	3	2	1	3	3	4	1			TCGA-KK-A8II-01A-11D-A364-08	TCGA-KK-A8II-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	008659ce-78a0-4243-8cf4-bbfb8308e993	ff736958-09d1-4cb7-9fa5-5955bde500ff	g.chrX:120182329G>A	ENST00000328078.1	+	1	868	c.791G>A	c.(790-792)gGa>gAa	p.G264E		NM_012084.3	NP_036216.2	P49448	DHE4_HUMAN	glutamate dehydrogenase 2	264					glutamate biosynthetic process (GO:0006537)|glutamate catabolic process (GO:0006538)|glutamate metabolic process (GO:0006536)|oxidation-reduction process (GO:0055114)	mitochondrion (GO:0005739)	ADP binding (GO:0043531)|glutamate dehydrogenase (NAD+) activity (GO:0004352)|glutamate dehydrogenase [NAD(P)+] activity (GO:0004353)|GTP binding (GO:0005525)|leucine binding (GO:0070728)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|urinary_tract(1)	38						AGCCAAGGGGGAATCCATGGA	0.478																																						ENST00000328078.1																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|urinary_tract(1)	38						c.(790-792)gGa>gAa		glutamate dehydrogenase 2	L-Glutamic Acid(DB00142)|NADH(DB00157)						128	97	108					X																	120182329		2203	4297	6500	SO:0001583	missense	2747				glutamate biosynthetic process|glutamate catabolic process	mitochondrial matrix	ADP binding|glutamate dehydrogenase|glutamate dehydrogenase activity|GTP binding|leucine binding	g.chrX:120182329G>A	U08997	CCDS14603.1	Xq24-q25	2008-02-05	2003-02-24	2003-02-28	ENSG00000182890	ENSG00000182890			4336	protein-coding gene	gene with protein product		300144	"glutamate dehydrogenase pseudogene 1"	GLUDP1		8207021, 9109504	Standard	NM_012084		Approved		uc004eto.3	P49448	OTTHUMG00000022320	ENST00000328078.1:c.791G>A	X.37:g.120182329G>A	ENSP00000327589:p.Gly264Glu						p.G264E	NM_012084.3	NP_036216.2	P49448	DHE4_HUMAN			1	868	+			264					B2R8G0|Q9UDQ4	Missense_Mutation	SNP	ENST00000328078.1	37	c.791G>A	CCDS14603.1	.	.	.	.	.	.	.	.	.	.	G	16.15	3.042554	0.55003	.	.	ENSG00000182890	ENST00000328078	D	0.99014	-5.33	2.33	1.41	0.22369	Glutamate/phenylalanine/leucine/valine dehydrogenase, C-terminal (1);NAD(P)-binding domain (1);	0.096882	0.64402	D	0.000001	D	0.99554	0.9840	H	0.99877	4.88	0.58432	D	0.999993	D	0.89917	1.0	D	0.81914	0.995	D	0.97709	1.0189	10	0.87932	D	0	-3.8822	7.6844	0.28532	0.0:0.0:0.7467:0.2533	.	264	P49448	DHE4_HUMAN	E	264	ENSP00000327589:G264E	ENSP00000327589:G264E	G	+	2	0	GLUD2	120010010	1.000000	0.71417	0.002000	0.10522	0.930000	0.56654	6.599000	0.74127	0.263000	0.21812	0.466000	0.42574	GGA		0.478	GLUD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058133.1	NM_012084		32	4	0	0	0	1	0	32	4					A	120182329	G	A	120182329	3	1	345	1	0	0	0	0	1	0	0	0	6477	1174	41	3	793	3	GLUD2	23	120182329	Missense_Mutation	SNP	G	TCGA-KK-A8II-01A-11D-A364-08	15717629	120182329	35088231	44	17467											
CSMD2	114784	broad.mit.edu	37	chr1	34006159	34006159	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agctctccggtccaggacccAtttccctcacaggtgaacac	9	8	8	16	1	2	1	1	1	1	0	5	2	4	2	4	3	2	1	4	3	1	1			TCGA-KK-A8IJ-01A-11D-A34U-08	TCGA-KK-A8IJ-11A-11D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78522869-eb0b-4497-b8bf-45437235c7c2	22a01dd4-194d-4931-91a3-cfd5406147df	g.chr1:34006159A>C	ENST00000373381.4	-	60	9773	c.9597T>G	c.(9595-9597)aaT>aaG	p.N3199K		NM_001281956.1|NM_052896.3	NP_001268885.1|NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	3175	Sushi 26. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				TCCAGGACCCATTTCCCTCAC	0.582																																						ENST00000373381.4																			0				NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246						c.(9595-9597)aaT>aaG		CUB and Sushi multiple domains 2							113	96	102					1																	34006159		2203	4300	6503	SO:0001583	missense	114784					integral to membrane|plasma membrane	protein binding	g.chr1:34006159A>C	AY210418	CCDS380.1, CCDS60082.1	1p34.3	2014-01-28			ENSG00000121904	ENSG00000121904			19290	protein-coding gene	gene with protein product		608398				11472063, 11572484	Standard	NM_001281956		Approved	KIAA1884	uc001bxn.1	Q7Z408	OTTHUMG00000011135	ENST00000373381.4:c.9597T>G	1.37:g.34006159A>C	ENSP00000362479:p.Asn3199Lys						p.N3199K	NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN			60	9773	-		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)	3175			Sushi 26.		B1AM50|E7EUA6|Q53TY4|Q5VT59|Q8N963|Q96Q03|Q9H4V7|Q9H4V8|Q9H4V9|Q9H4W0|Q9H4W1|Q9H4W2|Q9H4W3|Q9H4W4|Q9HCY5|Q9HCY6|Q9HCY7	Missense_Mutation	SNP	ENST00000373381.4	37	c.9597T>G		.	.	.	.	.	.	.	.	.	.	A	18.53	3.644687	0.67358	.	.	ENSG00000121904	ENST00000373381	T	0.67523	-0.27	5.67	-8.07	0.01098	Complement control module (2);Sushi/SCR/CCP (3);	0.109417	0.64402	D	0.000008	T	0.65354	0.2683	M	0.80982	2.52	0.80722	D	1	B;P	0.36837	0.221;0.571	B;B	0.42959	0.403;0.403	T	0.67945	-0.5539	10	0.49607	T	0.09	.	13.1143	0.59292	0.679:0.0844:0.2365:0.0	.	3055;3199	Q7Z408;E7EUA6	CSMD2_HUMAN;.	K	3199	ENSP00000362479:N3199K	ENSP00000241312:N3055K	N	-	3	2	CSMD2	33778746	0.029000	0.19370	0.527000	0.27925	0.891000	0.51852	-0.573000	0.05874	-1.674000	0.01461	-0.464000	0.05259	AAT		0.582	CSMD2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_052896		12	42	0	0	0	1	0	12	42					C	34006159	A	C	34006159	3	2	346	1	0	0	0	0	1	0	0	0	3945	214	8	5	1342	5	CSMD2	1	34006159	Missense_Mutation	SNP	A	TCGA-KK-A8IJ-01A-11D-A34U-08		34006159	215244462	1	17468											
PTCH2	8643	broad.mit.edu	37	chr1	45295346	45295346	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctgctcctcactccagccAatgtcatgtgtctgatagtc	7	12	8	14	0	3	1	2	1	1	0	6	1	5	1	4	0	2	1	4	0	2	1			TCGA-KK-A8IJ-01A-11D-A34U-08	TCGA-KK-A8IJ-11A-11D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78522869-eb0b-4497-b8bf-45437235c7c2	22a01dd4-194d-4931-91a3-cfd5406147df	g.chr1:45295346A>T	ENST00000372192.3	-	8	1153	c.1023T>A	c.(1021-1023)atT>atA	p.I341I	PTCH2_ENST00000447098.2_Silent_p.I341I	NM_003738.4	NP_003729.3	Q9Y6C5	PTC2_HUMAN	patched 2	341					epidermis development (GO:0008544)|hair cycle (GO:0042633)|negative regulation of smoothened signaling pathway (GO:0045879)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	hedgehog family protein binding (GO:0097108)|hedgehog receptor activity (GO:0008158)|smoothened binding (GO:0005119)			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	50	Acute lymphoblastic leukemia(166;0.155)					CACTCCAGCCAATGTCATGTG	0.612									Basal Cell Nevus syndrome																													ENST00000447098.2																			0				NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	50						c.(1021-1023)atT>atA		patched 2							89	88	89					1																	45295346		2203	4300	6503	SO:0001819	synonymous_variant	8643	Basal Cell Nevus syndrome	Familial Cancer Database	Gorlin syndrome, Gorlin-Golz syndrome, Naevoid Basal Cell Carcinoma syndrome, NBCCS	protein complex assembly|spermatogenesis	integral to plasma membrane	hedgehog receptor activity	g.chr1:45295346A>T	AF091501	CCDS516.1, CCDS53312.1	1p34.1	2010-06-24	2010-06-24		ENSG00000117425	ENSG00000117425			9586	protein-coding gene	gene with protein product		603673	"patched (Drosophila) homolog 2", "patched homolog 2 (Drosophila)"			9811851, 9931336	Standard	NM_003738		Approved		uc010olf.2	Q9Y6C5	OTTHUMG00000008490	ENST00000372192.3:c.1023T>A	1.37:g.45295346A>T						PTCH2_ENST00000372192.3_Silent_p.I341I	p.I341I	NM_001166292.1	NP_001159764.1	Q9Y6C5	PTC2_HUMAN			8	1034	-	Acute lymphoblastic leukemia(166;0.155)		341					O95341|O95856|Q53Z57|Q5QP87|Q6UX14	Silent	SNP	ENST00000372192.3	37	c.1023T>A	CCDS516.1																																																																																				0.612	PTCH2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000023428.4	NM_003738		7	71	0	0	0	1	0	7	71					T	45295346	A	T	45295346	2	4	346	1	0	0	0	0	0	0	0	1	12731	126	5	5		5	PTCH2	1	45295346	Silent	SNP	A	TCGA-KK-A8IJ-01A-11D-A34U-08	11289187	45295346	203955275	2	17469											
RAVER2	55225	broad.mit.edu	37	chr1	65278473	65278473	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agaaccaccaaaagaaattcGgctcagtaaaaatccatact	19	7	5	10	1	1	2	1	0	0	2	3	2	2	2	3	1	2	2	3	1	8	3			TCGA-KK-A8IJ-01A-11D-A34U-08	TCGA-KK-A8IJ-11A-11D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78522869-eb0b-4497-b8bf-45437235c7c2	22a01dd4-194d-4931-91a3-cfd5406147df	g.chr1:65278473G>A	ENST00000294428.3	+	10	1811	c.1733G>A	c.(1732-1734)cGg>cAg	p.R578Q	RAVER2_ENST00000430964.2_Missense_Mutation_p.R117Q|RAVER2_ENST00000371072.4_Missense_Mutation_p.R565Q			Q9HCJ3	RAVR2_HUMAN	ribonucleoprotein, PTB-binding 2	578						cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(6)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	24						AAAGAAATTCGGCTCAGTAAA	0.403																																						ENST00000294428.3																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(6)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	24						c.(1732-1734)cGg>cAg		ribonucleoprotein, PTB-binding 2							118	106	110					1																	65278473		1823	4085	5908	SO:0001583	missense	55225					cytoplasm|nucleus	nucleotide binding|RNA binding	g.chr1:65278473G>A	AB046799	CCDS41345.1	1p31.3	2013-02-12			ENSG00000162437	ENSG00000162437		"RNA binding motif (RRM) containing"	25577	protein-coding gene	gene with protein product		609953				16051233	Standard	NM_018211		Approved	KIAA1579, FLJ10770	uc001dbs.2	Q9HCJ3	OTTHUMG00000009102	ENST00000294428.3:c.1733G>A	1.37:g.65278473G>A	ENSP00000294428:p.Arg578Gln					RAVER2_ENST00000371072.4_Missense_Mutation_p.R565Q|RAVER2_ENST00000430964.2_Missense_Mutation_p.R117Q	p.R578Q			Q9HCJ3	RAVR2_HUMAN			10	1811	+			578					Q6P141|Q9NPV7	Missense_Mutation	SNP	ENST00000294428.3	37	c.1733G>A		.	.	.	.	.	.	.	.	.	.	G	24.6	4.551908	0.86127	.	.	ENSG00000162437	ENST00000371072;ENST00000294428;ENST00000430964	T;T;T	0.81415	-1.49;-1.49;-1.49	5.49	5.49	0.81192	.	0.128592	0.50627	D	0.000110	T	0.81494	0.4834	L	0.59436	1.845	0.34235	D	0.676988	D;D	0.89917	1.0;0.999	P;P	0.60345	0.829;0.873	D	0.84581	0.0661	10	0.72032	D	0.01	-38.9293	11.6108	0.51057	0.083:0.0:0.917:0.0	.	578;565	Q9HCJ3;Q9HCJ3-2	RAVR2_HUMAN;.	Q	565;578;117	ENSP00000360112:R565Q;ENSP00000294428:R578Q;ENSP00000408950:R117Q	ENSP00000294428:R578Q	R	+	2	0	RAVER2	65051061	0.988000	0.35896	1.000000	0.80357	0.991000	0.79684	4.244000	0.58728	2.558000	0.86282	0.579000	0.79373	CGG		0.403	RAVER2-201	KNOWN	basic	protein_coding	protein_coding		NM_018211		12	29	0	0	0	1	0	12	29					A	65278473	G	A	65278473	3	1	346	1	0	0	0	0	1	0	0	0	13095	1116	39	2	1732	2	RAVER2	1	65278473	Missense_Mutation	SNP	G	TCGA-KK-A8IJ-01A-11D-A34U-08	19983127	65278473	183972148	3	17470											
CD160	11126	broad.mit.edu	37	chr1	145699056	145699056	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctgaactcaaggtgttgtctTtgtttcaatcccgtcactgt	7	16	8	10	1	4	1	3	1	1	0	5	1	5	1	1	1	1	2	1	1	3	3			TCGA-KK-A8IJ-01A-11D-A34U-08	TCGA-KK-A8IJ-11A-11D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78522869-eb0b-4497-b8bf-45437235c7c2	22a01dd4-194d-4931-91a3-cfd5406147df	g.chr1:145699056T>G	ENST00000369288.2	-	5	652	c.435A>C	c.(433-435)caA>caC	p.Q145H	CD160_ENST00000235933.6_Missense_Mutation_p.Q145H|CD160_ENST00000401557.3_Missense_Mutation_p.Q145H|CD160_ENST00000369290.1_Missense_Mutation_p.Q36H	NM_007053.2	NP_008984.1	O95971	BY55_HUMAN	CD160 molecule	145					cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular defense response (GO:0006968)|defense response to Gram-negative bacterium (GO:0050829)|regulation of immune response (GO:0050776)	anchored component of plasma membrane (GO:0046658)|plasma membrane (GO:0005886)	MHC class I receptor activity (GO:0032393)|receptor activity (GO:0004872)|receptor binding (GO:0005102)			endometrium(3)|large_intestine(2)|lung(2)	7	all_hematologic(18;0.00473)|Acute lymphoblastic leukemia(18;0.0786)		KIRC - Kidney renal clear cell carcinoma(6;0.0764)|Kidney(552;0.118)|Colorectal(543;0.229)			GGTGTTGTCTTTGTTTCAATC	0.468																																					Colon(182;1122 1999 4065 44014 53024)	ENST00000369290.1																			0				endometrium(3)|large_intestine(2)|lung(2)	7						c.(106-108)caA>caC		CD160 molecule							192	147	162					1																	145699056		2203	4300	6503	SO:0001583	missense	11126				cell proliferation|cell surface receptor linked signaling pathway|cellular defense response|regulation of immune response	anchored to plasma membrane	MHC class I receptor activity|receptor binding	g.chr1:145699056T>G	AF060981	CCDS72861.1	1q21.2	2011-01-25	2006-03-28		ENSG00000117281	ENSG00000117281		"CD molecules"	17013	protein-coding gene	gene with protein product		604463	"CD160 antigen"			9743336, 9973372	Standard	NM_007053		Approved	BY55, NK1, NK28	uc001eol.1	O95971	OTTHUMG00000013749	ENST00000369288.2:c.435A>C	1.37:g.145699056T>G	ENSP00000358294:p.Gln145His					CD160_ENST00000401557.3_Missense_Mutation_p.Q145H|CD160_ENST00000369288.2_Missense_Mutation_p.Q145H|CD160_ENST00000235933.6_Missense_Mutation_p.Q145H	p.Q36H			O95971	BY55_HUMAN	KIRC - Kidney renal clear cell carcinoma(6;0.0764)|Kidney(552;0.118)|Colorectal(543;0.229)		3	265	-	all_hematologic(18;0.00473)|Acute lymphoblastic leukemia(18;0.0786)		145			Ig-like V-type.			Missense_Mutation	SNP	ENST00000369288.2	37	c.108A>C	CCDS923.1	.	.	.	.	.	.	.	.	.	.	T	10.67	1.415160	0.25552	.	.	ENSG00000117281	ENST00000235933;ENST00000369288;ENST00000369290;ENST00000401557	T;T;T	0.47177	0.85;0.85;0.85	4.54	-2.96	0.05547	.	0.858235	0.09723	N	0.764140	T	0.09335	0.0230	N	0.14661	0.345	0.09310	N	1	B;B	0.12013	0.005;0.002	B;B	0.12837	0.008;0.003	T	0.28808	-1.0032	10	0.48119	T	0.1	3.0749	2.9871	0.05971	0.1471:0.0907:0.453:0.3092	.	36;145	Q5T2V6;O95971	.;BY55_HUMAN	H	145;145;36;145	ENSP00000235933:Q145H;ENSP00000358294:Q145H;ENSP00000385199:Q145H	ENSP00000235933:Q145H	Q	-	3	2	CD160	144410413	0.000000	0.05858	0.000000	0.03702	0.102000	0.19082	-0.209000	0.09358	-0.257000	0.09459	0.533000	0.62120	CAA		0.468	CD160-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038532.2	NM_007053		15	71	0	0	0	1	0	15	71					G	145699056	T	G	145699056	3	3	346	1	0	0	0	0	1	0	0	0	2966	1838	64	5	118	5	CD160	1	145699056	Missense_Mutation	SNP	T	TCGA-KK-A8IJ-01A-11D-A34U-08	80420583	145699056	103551565	4	17471											
HSD17B7	51478	broad.mit.edu	37	chr1	162769603	162769603	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catctggacatcatctcgcaGtgcaaggaaatctaatttca	13	11	7	10	1	5	0	2	0	3	0	6	2	5	2	0	2	1	2	0	2	3	2			TCGA-KK-A8IJ-01A-11D-A34U-08	TCGA-KK-A8IJ-11A-11D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78522869-eb0b-4497-b8bf-45437235c7c2	22a01dd4-194d-4931-91a3-cfd5406147df	g.chr1:162769603G>A	ENST00000254521.3	+	5	573	c.518G>A	c.(517-519)aGt>aAt	p.S173N	HSD17B7_ENST00000367917.3_Missense_Mutation_p.S173N|HSD17B7_ENST00000485405.1_3'UTR	NM_016371.2	NP_057455.1	P56937	DHB7_HUMAN	hydroxysteroid (17-beta) dehydrogenase 7	173					cholesterol biosynthetic process (GO:0006695)|estrogen biosynthetic process (GO:0006703)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	3-keto sterol reductase activity (GO:0000253)|estradiol 17-beta-dehydrogenase activity (GO:0004303)	p.S173N(4)		endometrium(3)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|skin(1)	9	all_hematologic(112;0.115)					TCATCTCGCAGTGCAAGGAAA	0.458																																						ENST00000367917.3																			4	Substitution - Missense(4)	p.S173N(4)	kidney(2)|endometrium(2)	endometrium(3)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|skin(1)	9						c.(517-519)aGt>aAt		hydroxysteroid (17-beta) dehydrogenase 7	NADH(DB00157)						76	70	72					1																	162769603		2203	4300	6503	SO:0001583	missense	51478				cholesterol biosynthetic process	endoplasmic reticulum membrane|integral to membrane|plasma membrane	3-keto sterol reductase activity|estradiol 17-beta-dehydrogenase activity	g.chr1:162769603G>A	AF098786	CCDS1242.1	1q23	2011-09-14			ENSG00000132196	ENSG00000132196	1.1.1.270	"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"	5215	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 37C, member 1"	606756				10544267, 10419022, 19027726	Standard	NM_016371		Approved	PRAP, SDR37C1	uc001gci.3	P56937	OTTHUMG00000034420	ENST00000254521.3:c.518G>A	1.37:g.162769603G>A	ENSP00000254521:p.Ser173Asn					HSD17B7_ENST00000254521.3_Missense_Mutation_p.S173N|HSD17B7_ENST00000485405.1_3'UTR	p.S173N			P56937	DHB7_HUMAN			5	586	+	all_hematologic(112;0.115)		173					Q5T246|Q7Z4V9|Q8WWS2|Q9UF00	Missense_Mutation	SNP	ENST00000254521.3	37	c.518G>A	CCDS1242.1	.	.	.	.	.	.	.	.	.	.	A	0.896	-0.723912	0.03158	.	.	ENSG00000132196	ENST00000367917;ENST00000254521;ENST00000413934	T;T;T	0.76578	2.88;-1.03;2.88	4.44	3.31	0.37934	NAD(P)-binding domain (1);	0.000000	0.85682	N	0.000000	T	0.27205	0.0667	N	0.04705	-0.18	0.09310	N	0.999993	B	0.02656	0.0	B	0.04013	0.001	T	0.06917	-1.0800	9	0.05833	T	0.94	-30.7352	7.9369	0.29935	0.8252:0.0:0.1748:0.0	.	173	P56937	DHB7_HUMAN	N	173;173;26	ENSP00000356894:S173N;ENSP00000254521:S173N;ENSP00000412146:S26N	ENSP00000254521:S173N	S	+	2	0	HSD17B7	161036227	1.000000	0.71417	0.991000	0.47740	0.478000	0.33099	4.183000	0.58317	0.241000	0.21283	-1.007000	0.02485	AGT		0.458	HSD17B7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083207.1	NM_016371		3	50	0	0	0	1	0	3	50					A	162769603	G	A	162769603	3	1	346	1	0	0	0	0	1	0	0	0	7388	1029	36	3	536	3	HSD17B7	1	162769603	Missense_Mutation	SNP	G	TCGA-KK-A8IJ-01A-11D-A34U-08	17070547	162769603	86481018	5	17472											
HMCN1	83872	broad.mit.edu	37	chr1	186056778	186056778	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tacacattaagaaagctgagGtgcatcttttattcttgttt	11	17	7	6	0	2	2	0	1	2	1	2	2	2	2	0	1	3	3	0	1	4	7			TCGA-KK-A8IJ-01A-11D-A34U-08	TCGA-KK-A8IJ-11A-11D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78522869-eb0b-4497-b8bf-45437235c7c2	22a01dd4-194d-4931-91a3-cfd5406147df	g.chr1:186056778G>A	ENST00000271588.4	+	60	9592		c.e60+1		HMCN1_ENST00000367492.2_Splice_Site	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1						response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						GAAAGCTGAGGTGCATCTTTT	0.403																																						ENST00000271588.4																			0				NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						c.e60+1		hemicentin 1							83	82	82					1																	186056778		2202	4299	6501	SO:0001630	splice_region_variant	83872				response to stimulus|visual perception	basement membrane	calcium ion binding	g.chr1:186056778G>A	AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"Fibulins", "Immunoglobulin superfamily / I-set domain containing"	19194	protein-coding gene	gene with protein product	"fibulin 6"	608548	"age-related macular degeneration 1 (senile macular degeneration)"	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.9363+1G>A	1.37:g.186056778G>A						HMCN1_ENST00000367492.2_Splice_Site		NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN			60	9592	+								A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Splice_Site	SNP	ENST00000271588.4	37		CCDS30956.1	.	.	.	.	.	.	.	.	.	.	G	26.0	4.699882	0.88924	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	.	.	.	5.29	5.29	0.74685	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.3045	0.94155	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	HMCN1	184323401	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	9.430000	0.97488	2.612000	0.88384	0.655000	0.94253	.		0.403	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935	Intron	24	64	0	0	0	1	0	24	64					A	186056778	G	A	186056778	5	1	346	1	0	0	0	0	0	0	1	0	7220	1275	44	3	9602	3	HMCN1	1	186056778	Splice_Site	SNP	G	TCGA-KK-A8IJ-01A-11D-A34U-08	23287175	186056778	63193843	6	17473											
URB2	9816	broad.mit.edu	37	chr1	229773318	229773318	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agagctagtagtaggttcctTattgagatggatgatcccgc	10	12	12	7	1	0	3	0	2	0	2	2	5	2	4	2	2	1	4	2	2	4	6			TCGA-KK-A8IJ-01A-11D-A34U-08	TCGA-KK-A8IJ-11A-11D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78522869-eb0b-4497-b8bf-45437235c7c2	22a01dd4-194d-4931-91a3-cfd5406147df	g.chr1:229773318T>A	ENST00000258243.2	+	4	3094	c.2958T>A	c.(2956-2958)ctT>ctA	p.L986L		NM_014777.2	NP_055592.2	Q14146	URB2_HUMAN	URB2 ribosome biogenesis 2 homolog (S. cerevisiae)	986						aggresome (GO:0016235)|nucleolus (GO:0005730)|nucleus (GO:0005634)				breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(6)	73						GTAGGTTCCTTATTGAGATGG	0.443																																						ENST00000258243.2																			0				breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(6)	73						c.(2956-2958)ctT>ctA		URB2 ribosome biogenesis 2 homolog (S. cerevisiae)							157	146	150					1																	229773318		2203	4300	6503	SO:0001819	synonymous_variant	9816					nucleolus		g.chr1:229773318T>A	D50923	CCDS31052.1	1q42.13	2009-11-06	2008-10-01	2008-10-01	ENSG00000135763	ENSG00000135763			28967	protein-coding gene	gene with protein product	"nucleolar preribosomal-associated protein 1"		"KIAA0133"	KIAA0133		8590280	Standard	NM_014777		Approved	NPA2, NET10	uc001hts.1	Q14146	OTTHUMG00000039464	ENST00000258243.2:c.2958T>A	1.37:g.229773318T>A							p.L986L	NM_014777.2	NP_055592.2	Q14146	URB2_HUMAN			4	3094	+			986					Q5VYC9	Silent	SNP	ENST00000258243.2	37	c.2958T>A	CCDS31052.1																																																																																				0.443	URB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095232.1	NM_014777		14	125	0	0	0	1	0	14	125					A	229773318	T	A	229773318	2	1	346	1	0	0	0	0	0	0	0	1	17022	1741	61	5		5	URB2	1	229773318	Silent	SNP	T	TCGA-KK-A8IJ-01A-11D-A34U-08	43716540	229773318	19477303	7	17474											
ANKRD36	375248	broad.mit.edu	37	chr2	97869979	97869979	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	atatagccagaggaaaaaagGatggagaaaaaactaggaca	22	4	11	4	0	0	2	0	0	0	2	0	6	0	5	1	4	2	0	1	4	9	3	rs111515821		TCGA-KK-A8IJ-01A-11D-A34U-08	TCGA-KK-A8IJ-11A-11D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78522869-eb0b-4497-b8bf-45437235c7c2	22a01dd4-194d-4931-91a3-cfd5406147df	g.chr2:97869979G>T	ENST00000461153.2	+	50	3284	c.3040G>T	c.(3040-3042)Gat>Tat	p.D1014Y	ANKRD36_ENST00000420699.2_Missense_Mutation_p.D1014Y			A6QL64	AN36A_HUMAN	ankyrin repeat domain 36	1014								p.D1014Y(5)		endometrium(9)|kidney(5)|liver(1)|lung(3)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23						AGGAAAAAAGGATGGAGAAAA	0.328																																						ENST00000420699.2																			5	Substitution - Missense(5)	p.D1014Y(5)	endometrium(2)|skin(2)|kidney(1)	endometrium(9)|kidney(5)|liver(1)|lung(3)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23						c.(3040-3042)Gat>Tat		ankyrin repeat domain 36							29	35	33					2																	97869979		692	1589	2281	SO:0001583	missense	375248							g.chr2:97869979G>T	BC046186	CCDS54379.1	2q11.2	2013-09-24			ENSG00000135976	ENSG00000135976		"Ankyrin repeat domain containing"	24079	protein-coding gene	gene with protein product						12975309	Standard	NM_001164315		Approved	UNQ2430	uc010yva.2	A6QL64	OTTHUMG00000155256	ENST00000461153.2:c.3040G>T	2.37:g.97869979G>T	ENSP00000419530:p.Asp1014Tyr					ANKRD36_ENST00000461153.2_Missense_Mutation_p.D1014Y	p.D1014Y	NM_001164315.1	NP_001157787.1	A6QL64	AN36A_HUMAN			50	3284	+			1014					B4E3I8|Q6UX02|Q86X62|Q9HCD1	Missense_Mutation	SNP	ENST00000461153.2	37	c.3040G>T	CCDS54379.1	.	.	.	.	.	.	.	.	.	.	.	2.724	-0.265945	0.05754	.	.	ENSG00000135976	ENST00000461153;ENST00000420699;ENST00000461694	T;T	0.76578	-1.03;-1.03	0.63	0.63	0.17693	.	.	.	.	.	T	0.79287	0.4420	L	0.38175	1.15	0.09310	N	1	D	0.71674	0.998	D	0.69654	0.965	T	0.66440	-0.5923	8	0.52906	T	0.07	.	.	.	.	.	1014	A6QL64	AN36A_HUMAN	Y	1014;1014;376	ENSP00000419530:D1014Y;ENSP00000391950:D1014Y	ENSP00000391950:D1014Y	D	+	1	0	ANKRD36	97233706	0.010000	0.17322	0.018000	0.16275	0.005000	0.04900	0.408000	0.21065	0.612000	0.30071	0.175000	0.17021	GAT		0.328	ANKRD36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339154.5			3	25	1	0	1	1	1	3	25					T	97869979	G	T	97869979	3	4	346	1	0	0	0	0	1	0	0	0	665	1174	41	5	3238	5	ANKRD36	2	97869979	Missense_Mutation	SNP	G	TCGA-KK-A8IJ-01A-11D-A34U-08		97869979	145329394	8	17475											
IL1R2	7850	broad.mit.edu	37	chr2	102641116	102641116	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tacccgggaggccgcgtgacCgaggggccacgccagtaagt	8	4	16	13	5	0	1	0	1	0	0	0	3	0	2	5	4	1	1	5	4	2	2	rs141821381	byFrequency	TCGA-KK-A8IJ-01A-11D-A34U-08	TCGA-KK-A8IJ-11A-11D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78522869-eb0b-4497-b8bf-45437235c7c2	22a01dd4-194d-4931-91a3-cfd5406147df	g.chr2:102641116C>T	ENST00000332549.3	+	7	1102	c.873C>T	c.(871-873)acC>acT	p.T291T	IL1R2_ENST00000441002.1_Silent_p.T291T|IL1R2_ENST00000393414.2_Silent_p.T291T|IL1R2_ENST00000485335.1_3'UTR	NM_004633.3	NP_004624.1	P27930	IL1R2_HUMAN	interleukin 1 receptor, type II	291	Ig-like C2-type 3.				cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	interleukin-1 receptor activity (GO:0004908)|interleukin-1, Type II, blocking receptor activity (GO:0004910)			breast(3)|endometrium(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|skin(1)	28						GCCGCGTGACCGAGGGGCCAC	0.572													C|||	12	0.00239617	0.0076	0.0014	5008	,	,		15319	0		0.001	False		,,,				2504	0				Pancreas(106;189 1628 2302 5133 12295)	ENST00000332549.3																			0				breast(3)|endometrium(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|skin(1)	28						c.(871-873)acC>acT		interleukin 1 receptor, type II	Anakinra(DB00026)	C	,	13,4393	21.2+/-45.6	0,13,2190	49	46	47		873,873	-11.7	0	2	dbSNP_134	47	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	IL1R2	NM_004633.3,NM_173343.1	,	0,14,6489	TT,TC,CC		0.0116,0.2951,0.1076	,	291/399,291/399	102641116	14,12992	2203	4300	6503	SO:0001819	synonymous_variant	7850				immune response	integral to membrane|plasma membrane	interleukin-1, Type II, blocking receptor activity	g.chr2:102641116C>T	X59770	CCDS2054.1, CCDS58719.1	2q12	2013-01-11			ENSG00000115590	ENSG00000115590		"Interleukins and interleukin receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5994	protein-coding gene	gene with protein product		147811		IL1RB		10191101, 1833184	Standard	NM_004633		Approved	CD121b	uc002tbm.3	P27930	OTTHUMG00000130695	ENST00000332549.3:c.873C>T	2.37:g.102641116C>T						IL1R2_ENST00000485335.1_3'UTR|IL1R2_ENST00000393414.2_Silent_p.T291T|IL1R2_ENST00000441002.1_Silent_p.T291T	p.T291T	NM_004633.3	NP_004624.1	P27930	IL1R2_HUMAN			7	1102	+			291			Ig-like C2-type 3.		D3DVJ5|Q6LCE6|Q9UE68	Silent	SNP	ENST00000332549.3	37	c.873C>T	CCDS2054.1																																																																																				0.572	IL1R2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253191.1	NM_004633		5	50	0	0	0	1	0	5	50					T	102641116	C	T	102641116	2	4	346	1	0	0	0	0	0	0	0	1	7659	639	23	2		2	IL1R2	2	102641116	Silent	SNP	C	TCGA-KK-A8IJ-01A-11D-A34U-08	4771137	102641116	140558257	9	17476											
DNAH7	56171	broad.mit.edu	37	chr2	196852857	196852857	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgctcagtaggtgccacacTctctttcataataacttcct	9	14	6	12	0	3	0	2	0	1	0	5	0	4	0	2	1	3	2	2	1	3	5			TCGA-KK-A8IJ-01A-11D-A34U-08	TCGA-KK-A8IJ-11A-11D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78522869-eb0b-4497-b8bf-45437235c7c2	22a01dd4-194d-4931-91a3-cfd5406147df	g.chr2:196852857T>A	ENST00000312428.6	-	13	1550	c.1450A>T	c.(1450-1452)Agt>Tgt	p.S484C		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	484	Stem. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)	axonemal dynein complex (GO:0005858)|cilium (GO:0005929)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|microtubule motor activity (GO:0003777)			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						GGTGCCACACTCTCTTTCATA	0.373																																						ENST00000312428.6																			0				NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						c.(1450-1452)Agt>Tgt		dynein, axonemal, heavy chain 7							89	81	84					2																	196852857		1847	4101	5948	SO:0001583	missense	56171				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr2:196852857T>A	AF327442	CCDS42794.1	2q33.1	2013-01-10	2006-09-04		ENSG00000118997	ENSG00000118997		"Axonemal dyneins", "EF-hand domain containing"	18661	protein-coding gene	gene with protein product		610061	"dynein, axonemal, heavy polypeptide 7"			9373155, 11877439	Standard	NM_018897		Approved	KIAA0944	uc002utj.4	Q8WXX0	OTTHUMG00000154438	ENST00000312428.6:c.1450A>T	2.37:g.196852857T>A	ENSP00000311273:p.Ser484Cys						p.S484C	NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN			13	1550	-			484			Stem (By similarity).		B8ZZX8|O00433|O95492|Q4G152|Q53QX7|Q53S64|Q53T02|Q68CY5|Q8N1Z2|Q9UMS3|Q9Y2F3	Missense_Mutation	SNP	ENST00000312428.6	37	c.1450A>T	CCDS42794.1	.	.	.	.	.	.	.	.	.	.	T	8.144	0.785785	0.16189	.	.	ENSG00000118997	ENST00000312428	T	0.23147	1.92	5.59	5.59	0.84812	.	0.113728	0.56097	D	0.000027	T	0.32556	0.0833	M	0.76002	2.32	0.80722	D	1	B	0.12630	0.006	B	0.11329	0.006	T	0.06991	-1.0796	10	0.38643	T	0.18	.	15.4307	0.75092	0.0:0.0:0.0:1.0	.	484	Q8WXX0	DYH7_HUMAN	C	484	ENSP00000311273:S484C	ENSP00000311273:S484C	S	-	1	0	DNAH7	196561102	1.000000	0.71417	0.991000	0.47740	0.066000	0.16364	2.799000	0.47892	2.126000	0.65437	0.528000	0.53228	AGT		0.373	DNAH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335202.3	NM_018897		4	80	0	0	0	1	0	4	80					A	196852857	T	A	196852857	3	1	346	1	0	0	0	0	1	0	0	0	4606	1551	54	5	10836	5	DNAH7	2	196852857	Missense_Mutation	SNP	T	TCGA-KK-A8IJ-01A-11D-A34U-08	94211741	196852857	46346516	10	17477											
SLITRK3	22865	broad.mit.edu	37	chr3	164907134	164907134	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	aggctgaaggctgcaggctgGatttcccggatgacattgaa	10	9	14	8	1	0	3	0	3	0	0	1	5	1	5	1	5	1	4	1	5	2	2			TCGA-KK-A8IJ-01A-11D-A34U-08	TCGA-KK-A8IJ-11A-11D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78522869-eb0b-4497-b8bf-45437235c7c2	22a01dd4-194d-4931-91a3-cfd5406147df	g.chr3:164907134G>A	ENST00000475390.1	-	2	1928	c.1485C>T	c.(1483-1485)atC>atT	p.I495I	SLITRK3_ENST00000241274.3_Silent_p.I495I			O94933	SLIK3_HUMAN	SLIT and NTRK-like family, member 3	495					axonogenesis (GO:0007409)	integral component of membrane (GO:0016021)				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						CTGCAGGCTGGATTTCCCGGA	0.488										HNSCC(40;0.11)																												ENST00000475390.1																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						c.(1483-1485)atC>atT		SLIT and NTRK-like family, member 3							70	75	73					3																	164907134		2203	4300	6503	SO:0001819	synonymous_variant	22865					integral to membrane		g.chr3:164907134G>A	AB020655	CCDS3197.1	3q26.1	2004-07-28			ENSG00000121871	ENSG00000121871			23501	protein-coding gene	gene with protein product		609679				10048485, 14557068	Standard	NM_014926		Approved	KIAA0848	uc003fek.3	O94933	OTTHUMG00000158072	ENST00000475390.1:c.1485C>T	3.37:g.164907134G>A		HNSCC(40;0.11)				SLITRK3_ENST00000241274.3_Silent_p.I495I	p.I495I			O94933	SLIK3_HUMAN			2	1928	-			495					Q1RMY6	Silent	SNP	ENST00000475390.1	37	c.1485C>T	CCDS3197.1																																																																																				0.488	SLITRK3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350126.1	NM_014926		4	37	0	0	0	1	0	4	37					A	164907134	G	A	164907134	2	1	346	1	0	0	0	0	0	0	0	1	14744	1164	41	3		3	SLITRK3	3	164907134	Silent	SNP	G	TCGA-KK-A8IJ-01A-11D-A34U-08		164907134	33115296	11	17478											
LPHN3	23284	broad.mit.edu	37	chr4	62813885	62813885	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	caagcgtacaatgacaggttAttggtcaacacaaggctgtc	13	9	10	9	1	1	1	1	1	0	0	2	1	1	1	0	3	3	3	0	3	6	3			TCGA-KK-A8IJ-01A-11D-A34U-08	TCGA-KK-A8IJ-11A-11D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78522869-eb0b-4497-b8bf-45437235c7c2	22a01dd4-194d-4931-91a3-cfd5406147df	g.chr4:62813885A>T	ENST00000514591.1	+	16	2821	c.2492A>T	c.(2491-2493)tAt>tTt	p.Y831F	LPHN3_ENST00000504896.1_Missense_Mutation_p.Y831F|LPHN3_ENST00000507625.1_Missense_Mutation_p.Y899F|LPHN3_ENST00000506720.1_Missense_Mutation_p.Y899F|LPHN3_ENST00000511324.1_Missense_Mutation_p.Y899F|LPHN3_ENST00000512091.2_Missense_Mutation_p.Y831F|LPHN3_ENST00000506746.1_Missense_Mutation_p.Y899F|LPHN3_ENST00000514157.1_Missense_Mutation_p.Y831F|LPHN3_ENST00000507164.1_Missense_Mutation_p.Y899F|LPHN3_ENST00000508693.1_Missense_Mutation_p.Y899F|LPHN3_ENST00000509896.1_Missense_Mutation_p.Y899F|LPHN3_ENST00000506700.1_Missense_Mutation_p.Y831F|LPHN3_ENST00000545650.1_Missense_Mutation_p.Y831F|LPHN3_ENST00000514996.1_Missense_Mutation_p.Y831F|LPHN3_ENST00000508946.1_Missense_Mutation_p.Y831F			Q9HAR2	LPHN3_HUMAN	latrophilin 3	818	GPS. {ECO:0000255|PROSITE- ProRule:PRU00098}.				G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|G-protein coupled receptor activity (GO:0004930)			breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						ATGACAGGTTATTGGTCAACA	0.403																																						ENST00000512091.1																			0				breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						c.(2491-2493)tAt>tTt		latrophilin 3							97	87	90					4																	62813885		1896	4116	6012	SO:0001583	missense	23284				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding	g.chr4:62813885A>T	AB018311	CCDS54768.1	4q13.1	2014-08-08				ENSG00000150471		"-", "GPCR / Class B : Orphans"	20974	protein-coding gene	gene with protein product						10994649	Standard	NM_015236		Approved	KIAA0768, LEC3	uc010ihh.3	Q9HAR2		ENST00000514591.1:c.2492A>T	4.37:g.62813885A>T	ENSP00000422533:p.Tyr831Phe					LPHN3_ENST00000508693.1_Missense_Mutation_p.Y899F|LPHN3_ENST00000507625.1_Missense_Mutation_p.Y899F|LPHN3_ENST00000507164.1_Missense_Mutation_p.Y899F|LPHN3_ENST00000506746.1_Missense_Mutation_p.Y899F|LPHN3_ENST00000514996.1_Missense_Mutation_p.Y831F|LPHN3_ENST00000506700.1_Missense_Mutation_p.Y831F|LPHN3_ENST00000514157.1_Missense_Mutation_p.Y831F|LPHN3_ENST00000504896.1_Missense_Mutation_p.Y831F|LPHN3_ENST00000509896.1_Missense_Mutation_p.Y899F|LPHN3_ENST00000511324.1_Missense_Mutation_p.Y899F|LPHN3_ENST00000514591.1_Missense_Mutation_p.Y831F|LPHN3_ENST00000508946.1_Missense_Mutation_p.Y831F|LPHN3_ENST00000506720.1_Missense_Mutation_p.Y899F|LPHN3_ENST00000545650.1_Missense_Mutation_p.Y831F	p.Y831F			Q9HAR2	LPHN3_HUMAN			16	3239	+			818			GPS.		E9PE04|O94867|Q9NWK5	Missense_Mutation	SNP	ENST00000514591.1	37	c.2492A>T	CCDS54768.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	15.34|15.34	2.805753|2.805753	0.50421|0.50421	.|.	.|.	ENSG00000150471|ENSG00000150471	ENST00000502815|ENST00000512091;ENST00000514591;ENST00000509896;ENST00000511324;ENST00000506700;ENST00000545650;ENST00000295349;ENST00000280009;ENST00000507164;ENST00000508693;ENST00000507625;ENST00000514157;ENST00000504896;ENST00000508946;ENST00000506720;ENST00000506746;ENST00000514996	.|T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	.|0.68479	.|-0.33;-0.33;-0.33;-0.33;-0.33;-0.33;-0.33;-0.33;-0.33;-0.33;-0.33;-0.33;-0.33;-0.33;-0.33	5.98|5.98	4.8|4.8	0.61643|0.61643	.|GPS domain (3);	.|0.349316	.|0.31461	.|N	.|0.007604	T|T	0.51227|0.51227	0.1662|0.1662	N|N	0.20445|0.20445	0.575|0.575	0.40683|0.40683	D|D	0.982327|0.982327	.|B;B;B	.|0.15141	.|0.005;0.005;0.012	.|B;B;B	.|0.10450	.|0.005;0.005;0.004	T|T	0.45542|0.45542	-0.9254|-0.9254	5|10	.|0.40728	.|T	.|0.16	.|.	12.1974|12.1974	0.54305|0.54305	0.9336:0.0:0.0664:0.0|0.9336:0.0:0.0664:0.0	.|.	.|831;818;831	.|E9PE04;Q9HAR2;Q9HAR2-2	.|.;LPHN3_HUMAN;.	F|F	288|831;831;899;899;831;831;818;831;899;899;899;831;831;831;899;899;831	.|ENSP00000423388:Y831F;ENSP00000422533:Y831F;ENSP00000423787:Y899F;ENSP00000425033:Y899F;ENSP00000424120:Y831F;ENSP00000439831:Y831F;ENSP00000421476:Y899F;ENSP00000424030:Y899F;ENSP00000421372:Y899F;ENSP00000425201:Y831F;ENSP00000423434:Y831F;ENSP00000421627:Y831F;ENSP00000420931:Y899F;ENSP00000425884:Y899F;ENSP00000424258:Y831F	.|ENSP00000280009:Y831F	L|Y	+|+	3|2	2|0	LPHN3|LPHN3	62496480|62496480	1.000000|1.000000	0.71417|0.71417	0.980000|0.980000	0.43619|0.43619	0.971000|0.971000	0.66376|0.66376	5.907000|5.907000	0.69908|0.69908	1.093000|1.093000	0.41377|0.41377	0.529000|0.529000	0.55759|0.55759	TTA|TAT		0.403	LPHN3-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000361765.1			3	38	0	0	0	1	0	3	38					T	62813885	A	T	62813885	3	4	346	1	0	0	0	0	1	0	0	0	8917	449	16	5	2546	5	LPHN3	4	62813885	Missense_Mutation	SNP	A	TCGA-KK-A8IJ-01A-11D-A34U-08		62813885	128340391	12	17479											
BANK1	55024	broad.mit.edu	37	chr4	102981540	102981540	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaagtggcctggaaatgatTcagcaggtaatattggccca	14	9	11	7	0	1	1	1	1	0	0	1	2	1	2	2	4	1	2	2	4	5	4			TCGA-KK-A8IJ-01A-11D-A34U-08	TCGA-KK-A8IJ-11A-11D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78522869-eb0b-4497-b8bf-45437235c7c2	22a01dd4-194d-4931-91a3-cfd5406147df	g.chr4:102981540T>G	ENST00000322953.4	+	12	2416	c.2142T>G	c.(2140-2142)atT>atG	p.I714M	BANK1_ENST00000504592.1_Missense_Mutation_p.I699M|BANK1_ENST00000444316.2_Missense_Mutation_p.I684M|BANK1_ENST00000508653.1_Missense_Mutation_p.I581M|BANK1_ENST00000428908.1_Missense_Mutation_p.I581M	NM_017935.4	NP_060405	Q8NDB2	BANK1_HUMAN	B-cell scaffold protein with ankyrin repeats 1	714					B cell activation (GO:0042113)					NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|liver(2)|lung(16)|ovary(2)|skin(2)|urinary_tract(1)	44		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;2.7e-07)		TGGAAATGATTCAGCAGGTAA	0.418																																						ENST00000504592.1																			0				NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|liver(2)|lung(16)|ovary(2)|skin(2)|urinary_tract(1)	44						c.(2095-2097)atT>atG		B-cell scaffold protein with ankyrin repeats 1							78	82	80					4																	102981540		2203	4300	6503	SO:0001583	missense	55024				B cell activation			g.chr4:102981540T>G	AB063170	CCDS34038.1, CCDS47115.1, CCDS47116.1	4q23	2013-01-11						"Ankyrin repeat domain containing"	18233	protein-coding gene	gene with protein product		610292				11782428, 21208380, 21480188	Standard	NM_017935		Approved	BANK, FLJ20706	uc003hvy.4	Q8NDB2		ENST00000322953.4:c.2142T>G	4.37:g.102981540T>G	ENSP00000320509:p.Ile714Met					BANK1_ENST00000444316.2_Missense_Mutation_p.I684M|BANK1_ENST00000508653.1_Missense_Mutation_p.I581M|BANK1_ENST00000428908.1_Missense_Mutation_p.I581M|BANK1_ENST00000322953.4_Missense_Mutation_p.I714M	p.I699M			Q8NDB2	BANK1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;2.7e-07)	16	2515	+		Hepatocellular(203;0.217)	714					A8K7W8|B0F3S2|Q8N5K8|Q8NB56|Q8WYN5|Q9NWP2	Missense_Mutation	SNP	ENST00000322953.4	37	c.2097T>G	CCDS34038.1	.	.	.	.	.	.	.	.	.	.	T	15.90	2.968431	0.53614	.	.	ENSG00000153064	ENST00000504592;ENST00000322953;ENST00000428908;ENST00000508653;ENST00000444316	T;T;T;T;T	0.20332	2.78;2.76;2.08;2.08;2.78	5.59	0.198	0.15168	.	0.501680	0.20246	N	0.096183	T	0.30198	0.0757	L	0.50333	1.59	0.25529	N	0.987299	D;D;D	0.76494	0.994;0.999;0.999	D;D;D	0.74023	0.975;0.982;0.982	T	0.10200	-1.0640	10	0.34782	T	0.22	.	4.5358	0.12028	0.0:0.2565:0.1586:0.5848	.	581;714;699	Q8NDB2-4;Q8NDB2;Q8NDB2-2	.;BANK1_HUMAN;.	M	699;714;581;581;684	ENSP00000421443:I699M;ENSP00000320509:I714M;ENSP00000412748:I581M;ENSP00000422314:I581M;ENSP00000388817:I684M	ENSP00000320509:I714M	I	+	3	3	BANK1	103200563	0.690000	0.27699	0.711000	0.30485	0.975000	0.68041	-0.242000	0.08928	-0.154000	0.11118	0.459000	0.35465	ATT		0.418	BANK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363161.1	NM_017935		13	47	0	0	0	1	0	13	47					G	102981540	T	G	102981540	3	3	346	1	0	0	0	0	1	0	0	0	1309	1771	62	5	2188	5	BANK1	4	102981540	Missense_Mutation	SNP	T	TCGA-KK-A8IJ-01A-11D-A34U-08	40167655	102981540	88172736	13	17480											
KIAA1109	84162	broad.mit.edu	37	chr4	123249427	123249427	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agggccgacgggatgacagtTtgtcttctaccagtgaagat	10	10	13	8	2	2	3	0	2	2	1	2	5	2	4	2	2	1	1	2	2	2	3			TCGA-KK-A8IJ-01A-11D-A34U-08	TCGA-KK-A8IJ-11A-11D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78522869-eb0b-4497-b8bf-45437235c7c2	22a01dd4-194d-4931-91a3-cfd5406147df	g.chr4:123249427T>G	ENST00000264501.4	+	66	11537	c.11164T>G	c.(11164-11166)Ttg>Gtg	p.L3722V	KIAA1109_ENST00000388738.3_Missense_Mutation_p.L3722V			Q2LD37	K1109_HUMAN	KIAA1109	3722					regulation of cell growth (GO:0001558)|regulation of epithelial cell differentiation (GO:0030856)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						GGATGACAGTTTGTCTTCTAC	0.438																																						ENST00000264501.4																			0				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						c.(11164-11166)Ttg>Gtg		KIAA1109							108	100	102					4																	123249427		1834	4087	5921	SO:0001583	missense	84162				regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus		g.chr4:123249427T>G	AL137384	CCDS43267.1	4q28.1	2012-07-09			ENSG00000138688	ENSG00000138688			26953	protein-coding gene	gene with protein product	"fragile site-associated"	611565				16386706	Standard	NM_015312		Approved	FLJ21404, FSA, KIAA1371, Tweek	uc003ieh.3	Q2LD37	OTTHUMG00000150116	ENST00000264501.4:c.11164T>G	4.37:g.123249427T>G	ENSP00000264501:p.Leu3722Val					KIAA1109_ENST00000388738.3_Missense_Mutation_p.L3722V	p.L3722V			Q2LD37	K1109_HUMAN			66	11537	+			3722					Q4W598|Q5CZA9|Q6ZS70|Q6ZV75|Q86XA5|Q8WVD8|Q9H742|Q9NT48|Q9NTC3|Q9NTI4|Q9P2H6|Q9UPP3	Missense_Mutation	SNP	ENST00000264501.4	37	c.11164T>G	CCDS43267.1	.	.	.	.	.	.	.	.	.	.	T	21.2	4.109746	0.77096	.	.	ENSG00000138688	ENST00000264501;ENST00000388738;ENST00000438707	T;T;T	0.33654	2.44;2.44;1.4	5.57	1.26	0.21427	.	0.102602	0.43260	D	0.000582	T	0.17365	0.0417	N	0.08118	0	0.80722	D	1	B;B	0.25809	0.135;0.01	B;B	0.27076	0.076;0.015	T	0.06303	-1.0834	10	0.33940	T	0.23	.	8.6729	0.34161	0.0:0.2629:0.0:0.7371	.	3721;3722	Q2LD37-4;Q2LD37	.;K1109_HUMAN	V	3722;3722;426	ENSP00000264501:L3722V;ENSP00000373390:L3722V;ENSP00000410874:L426V	ENSP00000264501:L3722V	L	+	1	2	KIAA1109	123468877	1.000000	0.71417	0.967000	0.41034	0.993000	0.82548	2.529000	0.45632	-0.006000	0.14370	0.383000	0.25322	TTG		0.438	KIAA1109-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316415.1	NM_020797		4	79	0	0	0	1	0	4	79					G	123249427	T	G	123249427	3	3	346	1	0	0	0	0	1	0	0	0	8208	1838	64	5	11418	5	KIAA1109	4	123249427	Missense_Mutation	SNP	T	TCGA-KK-A8IJ-01A-11D-A34U-08	20267887	123249427	67904849	14	17481											
FNIP1	96459	broad.mit.edu	37	chr5	130980422	130980422	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tggagagtgagtgcttgctaCagcagccagaagtggaagat	12	8	15	6	0	0	4	0	1	0	3	0	6	0	5	1	2	5	3	1	2	3	2			TCGA-KK-A8IJ-01A-11D-A34U-08	TCGA-KK-A8IJ-11A-11D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78522869-eb0b-4497-b8bf-45437235c7c2	22a01dd4-194d-4931-91a3-cfd5406147df	g.chr5:130980422C>T	ENST00000510461.1	-	18	3552	c.3457G>A	c.(3457-3459)Gta>Ata	p.V1153I	FNIP1_ENST00000307954.8_Missense_Mutation_p.V1108I|FNIP1_ENST00000307968.7_Missense_Mutation_p.V1125I|CTC-432M15.3_ENST00000514667.1_Intron	NM_133372.2	NP_588613	Q8TF40	FNIP1_HUMAN	folliculin interacting protein 1	1153					cellular response to starvation (GO:0009267)|immature B cell differentiation (GO:0002327)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of TOR signaling (GO:0032007)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of B cell apoptotic process (GO:0002904)|positive regulation of GTPase activity (GO:0043547)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of protein phosphorylation (GO:0001934)|regulation of pro-B cell differentiation (GO:2000973)|regulation of protein phosphorylation (GO:0001932)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)			NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34		all_cancers(142;0.00347)|Lung NSC(810;0.106)|all_lung(232;0.123)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0665)		GTGCTTGCTACAGCAGCCAGA	0.383																																						ENST00000307968.7																			0				NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						c.(3373-3375)Gta>Ata		folliculin interacting protein 1							102	107	105					5																	130980422		2203	4300	6503	SO:0001583	missense	96459							g.chr5:130980422C>T	DQ145719	CCDS34226.1, CCDS34227.1	5q23.3	2014-01-28				ENSG00000217128			29418	protein-coding gene	gene with protein product		610594				11853319, 17028174	Standard	NM_001008738		Approved	KIAA1961		Q8TF40		ENST00000510461.1:c.3457G>A	5.37:g.130980422C>T	ENSP00000421985:p.Val1153Ile					FNIP1_ENST00000510461.1_Missense_Mutation_p.V1153I|FNIP1_ENST00000514667.1_Intron|FNIP1_ENST00000307954.8_Missense_Mutation_p.V1108I	p.V1125I	NM_001008738.2	NP_001008738.2			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0665)	17	3372	-		all_cancers(142;0.00347)|Lung NSC(810;0.106)|all_lung(232;0.123)|Breast(839;0.198)						D6RJH5|Q86T47|Q9BUT0	Missense_Mutation	SNP	ENST00000510461.1	37	c.3373G>A	CCDS34227.1	.	.	.	.	.	.	.	.	.	.	C	8.296	0.818781	0.16607	.	.	ENSG00000217128	ENST00000307968;ENST00000307954;ENST00000544351;ENST00000510461	T;T;T	0.15718	2.4;2.48;2.4	5.48	5.48	0.80851	.	.	.	.	.	T	0.08980	0.0222	N	0.14661	0.345	0.80722	D	1	B;B	0.31318	0.014;0.319	B;B	0.26416	0.06;0.069	T	0.21621	-1.0240	9	0.09084	T	0.74	-7.0828	12.6529	0.56772	0.0:0.9245:0.0:0.0754	.	1125;1153	Q8TF40-3;Q8TF40	.;FNIP1_HUMAN	I	1125;1108;905;1153	ENSP00000309266:V1125I;ENSP00000310453:V1108I;ENSP00000421985:V1153I	ENSP00000310453:V1108I	V	-	1	0	FNIP1	131008321	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.790000	0.55461	2.569000	0.86673	0.655000	0.94253	GTA		0.383	FNIP1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370077.1	NM_133372		7	30	0	0	0	1	0	7	30					T	130980422	C	T	130980422	3	4	346	1	0	0	0	0	1	0	0	0	5975	478	17	3	47	3	FNIP1	5	130980422	Missense_Mutation	SNP	C	TCGA-KK-A8IJ-01A-11D-A34U-08		130980422	49934838	15	17482											
PCDHA1	56147	broad.mit.edu	37	chr5	140167805	140167805	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggacgaggctgacttgtcgCgctaccgccttctggtgcta	5	11	13	12	4	1	1	0	1	1	0	2	3	1	2	2	3	2	3	2	3	2	4	rs577194073		TCGA-KK-A8IJ-01A-11D-A34U-08	TCGA-KK-A8IJ-11A-11D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78522869-eb0b-4497-b8bf-45437235c7c2	22a01dd4-194d-4931-91a3-cfd5406147df	g.chr5:140167805C>T	ENST00000504120.2	+	1	1930	c.1930C>T	c.(1930-1932)Cgc>Tgc	p.R644C	PCDHA1_ENST00000378133.3_Missense_Mutation_p.R644C|PCDHA1_ENST00000394633.3_Intron	NM_018900.2	NP_061723.1	Q9Y5I3	PCDA1_HUMAN	protocadherin alpha 1	644	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3)	70			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGACTTGTCGCGCTACCGCCT	0.662													.|||	1	0.000199681	0	0	5008	,	,		16253	0.001		0	False		,,,				2504	0					ENST00000504120.2																			0				breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3)	70						c.(1930-1932)Cgc>Tgc									64	69	67					5																	140167805		2203	4300	6503	SO:0001583	missense	0							g.chr5:140167805C>T	AF152479	CCDS54912.1, CCDS54913.1	5q31	2010-11-26				ENSG00000204970		"Cadherins / Protocadherins : Clustered"	8663	other	complex locus constituent	"KIAA0345-like 13"	606307				10380929	Standard	NM_018900		Approved			Q9Y5I3		ENST00000504120.2:c.1930C>T	5.37:g.140167805C>T	ENSP00000420840:p.Arg644Cys					PCDHA1_ENST00000378133.3_Missense_Mutation_p.R644C|PCDHA1_ENST00000394633.3_Intron	p.R644C	NM_018900.2	NP_061723.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1930	+								O75288|Q9NRT7	Missense_Mutation	SNP	ENST00000504120.2	37	c.1930C>T	CCDS54913.1	.	.	.	.	.	.	.	.	.	.	c	8.460	0.855009	0.17106	.	.	ENSG00000204970	ENST00000504120;ENST00000378133	T;T	0.53206	0.63;0.63	3.49	1.42	0.22433	Cadherin (4);Cadherin-like (1);	0.000000	0.34555	U	0.003869	T	0.68686	0.3028	M	0.92738	3.34	0.20873	N	0.999839	D;D	0.89917	1.0;0.999	D;D	0.65140	0.932;0.921	T	0.60042	-0.7340	10	0.87932	D	0	.	7.991	0.30239	0.3782:0.4883:0.1336:0.0	.	644;644	Q9Y5I3;Q9Y5I3-3	PCDA1_HUMAN;.	C	644	ENSP00000420840:R644C;ENSP00000367373:R644C	ENSP00000367373:R644C	R	+	1	0	PCDHA1	140147989	0.003000	0.15002	0.231000	0.23993	0.001000	0.01503	0.802000	0.27069	0.545000	0.28902	-0.283000	0.09986	CGC		0.662	PCDHA1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000389127.1	NM_018900		13	61	0	0	0	1	0	13	61					T	140167805	C	T	140167805	3	4	346	1	0	0	0	0	1	0	0	0	11519	768	27	1	1932	1	PCDHA1	5	140167805	Missense_Mutation	SNP	C	TCGA-KK-A8IJ-01A-11D-A34U-08	9187383	140167805	40747455	16	17483											
BYSL	705	broad.mit.edu	37	chr6	41889339	41889339	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcccgtggggtggggggtcaGgaaaaacatgcgcccctggc	7	5	18	11	2	1	0	1	0	0	0	1	1	1	1	3	7	2	0	3	7	2	0			TCGA-KK-A8IJ-01A-11D-A34U-08	TCGA-KK-A8IJ-11A-11D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78522869-eb0b-4497-b8bf-45437235c7c2	22a01dd4-194d-4931-91a3-cfd5406147df	g.chr6:41889339G>A	ENST00000230340.4	+	1	414	c.39G>A	c.(37-39)caG>caA	p.Q13Q	MED20_ENST00000467535.1_5'Flank|MED20_ENST00000409312.1_5'Flank|MED20_ENST00000265350.4_5'Flank|MED20_ENST00000409060.1_5'Flank	NM_004053.3	NP_004044.3	Q13895	BYST_HUMAN	bystin-like	13					cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|female pregnancy (GO:0007565)|maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000462)|trophectodermal cell differentiation (GO:0001829)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(5)|skin(1)	8	Colorectal(47;0.121)		STAD - Stomach adenocarcinoma(11;0.000204)|Epithelial(12;0.000473)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			TGGGGGGTCAGGAAAAACATG	0.647											OREG0017436	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000230340.4																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(5)|skin(1)	8						c.(37-39)caG>caA		bystin-like							14	19	18					6																	41889339		2178	4276	6454	SO:0001819	synonymous_variant	705				cell adhesion|female pregnancy|ribosome biogenesis	cytoplasm|nucleolus		g.chr6:41889339G>A	L36720	CCDS34450.1	6p21.1	2008-08-29			ENSG00000112578	ENSG00000112578			1157	protein-coding gene	gene with protein product		603871				9925933, 17381424	Standard	NM_004053		Approved		uc003orl.3	Q13895	OTTHUMG00000014687	ENST00000230340.4:c.39G>A	6.37:g.41889339G>A			OREG0017436	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	904		p.Q13Q	NM_004053.3	NP_004044.3	Q13895	BYST_HUMAN	STAD - Stomach adenocarcinoma(11;0.000204)|Epithelial(12;0.000473)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)		1	414	+	Colorectal(47;0.121)		13					Q6P5W4|Q86W44|Q96IP8	Silent	SNP	ENST00000230340.4	37	c.39G>A	CCDS34450.1																																																																																				0.647	BYSL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040535.2			7	24	0	0	0	1	0	7	24					A	41889339	G	A	41889339	2	1	346	1	0	0	0	0	0	0	0	1	1576	991	35	3		3	BYSL	6	41889339	Silent	SNP	G	TCGA-KK-A8IJ-01A-11D-A34U-08		41889339	129225728	17	17484											
TJAP1	93643	broad.mit.edu	37	chr6	43466774	43466774	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccctgctaagaaaccctaccGtaaggcaccaccagagcatc	13	5	7	16	1	0	2	0	0	0	2	1	2	0	2	5	1	4	4	5	1	4	3			TCGA-KK-A8IJ-01A-11D-A34U-08	TCGA-KK-A8IJ-11A-11D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78522869-eb0b-4497-b8bf-45437235c7c2	22a01dd4-194d-4931-91a3-cfd5406147df	g.chr6:43466774G>C	ENST00000372445.5	+	4	411	c.35G>C	c.(34-36)cGt>cCt	p.R12P	TJAP1_ENST00000372449.1_Missense_Mutation_p.R12P|TJAP1_ENST00000438588.2_Missense_Mutation_p.R12P|TJAP1_ENST00000372444.2_Missense_Mutation_p.R12P|TJAP1_ENST00000483640.1_3'UTR|TJAP1_ENST00000436109.2_Missense_Mutation_p.R12P|TJAP1_ENST00000372452.1_Missense_Mutation_p.R12P|TJAP1_ENST00000259751.1_Missense_Mutation_p.R12P	NM_001146016.1	NP_001139488.1	Q5JTD0	TJAP1_HUMAN	tight junction associated protein 1 (peripheral)	12					Golgi organization (GO:0007030)	endosome (GO:0005768)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)|trans-Golgi network (GO:0005802)				cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|urinary_tract(2)	21	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0122)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)			AAACCCTACCGTAAGGCACCA	0.592																																						ENST00000372444.2																			0				cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|urinary_tract(2)	21						c.(34-36)cGt>cCt		tight junction associated protein 1 (peripheral)							90	75	80					6																	43466774		2203	4300	6503	SO:0001583	missense	93643					Golgi apparatus|tight junction	protein binding	g.chr6:43466774G>C	AK024269	CCDS4898.1, CCDS55004.1	6p21.1	2008-02-05	2005-07-05	2005-07-05	ENSG00000137221	ENSG00000137221			17949	protein-coding gene	gene with protein product		612658	"tight junction protein 4 (peripheral)"	TJP4		11602598	Standard	NM_001146016		Approved	PILT	uc011dvh.1	Q5JTD0	OTTHUMG00000014736	ENST00000372445.5:c.35G>C	6.37:g.43466774G>C	ENSP00000361522:p.Arg12Pro					TJAP1_ENST00000438588.2_Missense_Mutation_p.R12P|TJAP1_ENST00000436109.2_Missense_Mutation_p.R12P|TJAP1_ENST00000483640.1_3'UTR|TJAP1_ENST00000372445.5_Missense_Mutation_p.R12P|TJAP1_ENST00000372449.1_Missense_Mutation_p.R12P|TJAP1_ENST00000372452.1_Missense_Mutation_p.R12P|TJAP1_ENST00000259751.1_Missense_Mutation_p.R12P	p.R12P	NM_001146018.1	NP_001139490.1	Q5JTD0	TJAP1_HUMAN	Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0122)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)		5	468	+	all_lung(25;0.00536)		12					Q05BH9|Q5JTD1|Q5JWW1|Q68DB2|Q6P2P3|Q9H7V7	Missense_Mutation	SNP	ENST00000372445.5	37	c.35G>C	CCDS55004.1	.	.	.	.	.	.	.	.	.	.	G	29.5	5.012809	0.93346	.	.	ENSG00000137221	ENST00000372444;ENST00000372445;ENST00000436109;ENST00000442878;ENST00000259751;ENST00000372454;ENST00000372452;ENST00000372449;ENST00000438588	T;T;T;T;T;T;T;T	0.44881	0.91;0.91;0.91;0.91;0.91;0.91;0.91;0.91	5.31	5.31	0.75309	.	0.000000	0.85682	D	0.000000	T	0.56426	0.1984	M	0.62723	1.935	0.58432	D	0.999998	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.998;0.999;0.999	T	0.60188	-0.7312	10	0.87932	D	0	-20.0471	17.1606	0.86802	0.0:0.0:1.0:0.0	.	12;12;12	E2QRK7;Q5JTD0;Q5JTD0-2	.;TJAP1_HUMAN;.	P	12	ENSP00000361521:R12P;ENSP00000361522:R12P;ENSP00000407080:R12P;ENSP00000390981:R12P;ENSP00000259751:R12P;ENSP00000361530:R12P;ENSP00000361527:R12P;ENSP00000408769:R12P	ENSP00000259751:R12P	R	+	2	0	TJAP1	43574752	1.000000	0.71417	0.967000	0.41034	0.996000	0.88848	7.903000	0.87398	2.495000	0.84180	0.655000	0.94253	CGT		0.592	TJAP1-202	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000040629.1	NM_080604		5	29	0	0	0	1	0	5	29					C	43466774	G	C	43466774	3	2	346	1	0	0	0	0	1	0	0	0	15925	1145	40	5	37	5	TJAP1	6	43466774	Missense_Mutation	SNP	G	TCGA-KK-A8IJ-01A-11D-A34U-08	1577435	43466774	127648293	18	17485											
PSMC2	5701	broad.mit.edu	37	chr7	103004675	103004675	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tacaggcaagacactctgtgCgcgggcagttgctaatcgga	10	8	13	10	3	1	1	0	0	1	1	2	2	1	2	0	3	3	4	0	3	3	3			TCGA-KK-A8IJ-01A-11D-A34U-08	TCGA-KK-A8IJ-11A-11D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78522869-eb0b-4497-b8bf-45437235c7c2	22a01dd4-194d-4931-91a3-cfd5406147df	g.chr7:103004675C>T	ENST00000435765.1	+	9	1088	c.677C>T	c.(676-678)gCg>gTg	p.A226V	PSMC2_ENST00000292644.3_Missense_Mutation_p.A226V|SLC26A5_ENST00000339444.6_Intron|PSMC2_ENST00000544811.1_Missense_Mutation_p.A89V|SLC26A5_ENST00000393735.2_Intron|SLC26A5_ENST00000356767.4_Intron	NM_002803.3	NP_002794.1	P35998	PRS7_HUMAN	proteasome (prosome, macropain) 26S subunit, ATPase, 2	226					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|ATP catabolic process (GO:0006200)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|osteoblast differentiation (GO:0001649)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	21						ACACTCTGTGCGCGGGCAGTT	0.498																																						ENST00000435765.1																			0				breast(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	21						c.(676-678)gCg>gTg		proteasome (prosome, macropain) 26S subunit, ATPase, 2							118	106	110					7																	103004675		2203	4300	6503	SO:0001583	missense	5701				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	mitochondrion|nucleus|proteasome complex	ATP binding|ATPase activity|protein binding	g.chr7:103004675C>T	D11094	CCDS5731.1	7q22.1-q22.3	2010-04-21			ENSG00000161057	ENSG00000161057		"Proteasome (prosome, macropain) subunits", "ATPases / AAA-type"	9548	protein-coding gene	gene with protein product	"proteasome 26S subunit, ATPase, 2", "mammalian suppressor of sgv-1 of yeast", "protease 26S subunit 7", "putative protein product of Nbla10058"	154365				9473509, 1377363	Standard	NM_002803		Approved	MSS1, S7, Nbla10058	uc003vbs.3	P35998	OTTHUMG00000157206	ENST00000435765.1:c.677C>T	7.37:g.103004675C>T	ENSP00000391211:p.Ala226Val					PSMC2_ENST00000292644.3_Missense_Mutation_p.A226V|SLC26A5_ENST00000393735.2_Intron|SLC26A5_ENST00000356767.4_Intron|SLC26A5_ENST00000339444.6_Intron|PSMC2_ENST00000544811.1_Missense_Mutation_p.A89V	p.A226V	NM_002803.3	NP_002794.1	P35998	PRS7_HUMAN			9	1088	+			226					A4D0Q1|B7Z5E2|Q3LIA5|Q9UDI3	Missense_Mutation	SNP	ENST00000435765.1	37	c.677C>T	CCDS5731.1	.	.	.	.	.	.	.	.	.	.	C	32	5.179441	0.94846	.	.	ENSG00000161057	ENST00000435765;ENST00000292644;ENST00000544811	D;D;D	0.96685	-4.09;-4.09;-4.09	5.59	4.71	0.59529	ATPase, AAA-type, core (1);ATPase, AAA+ type, core (1);	0.000000	0.85682	D	0.000000	D	0.97368	0.9139	L	0.59912	1.85	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.97947	1.0329	10	0.87932	D	0	-22.2326	14.4429	0.67330	0.0:0.929:0.0:0.071	.	226	P35998	PRS7_HUMAN	V	226;226;89	ENSP00000391211:A226V;ENSP00000292644:A226V;ENSP00000445546:A89V	ENSP00000292644:A226V	A	+	2	0	PSMC2	102791911	1.000000	0.71417	0.985000	0.45067	0.860000	0.49131	7.792000	0.85828	1.363000	0.46019	0.650000	0.86243	GCG		0.498	PSMC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347922.1	NM_002803		11	63	0	0	0	1	0	11	63					T	103004675	C	T	103004675	3	4	346	1	0	0	0	0	1	0	0	0	12686	768	27	1	707	1	PSMC2	7	103004675	Missense_Mutation	SNP	C	TCGA-KK-A8IJ-01A-11D-A34U-08		103004675	56133988	19	17486											
IQUB	154865	broad.mit.edu	37	chr7	123152133	123152133	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atgttgcggagtatatgaaaCttgtcttggtgatataacct	11	15	10	5	1	1	2	0	2	1	0	1	3	1	3	1	2	3	2	1	2	5	7			TCGA-KK-A8IJ-01A-11D-A34U-08	TCGA-KK-A8IJ-11A-11D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78522869-eb0b-4497-b8bf-45437235c7c2	22a01dd4-194d-4931-91a3-cfd5406147df	g.chr7:123152133C>A	ENST00000466202.1	-	2	838	c.262G>T	c.(262-264)Gtt>Ttt	p.V88F	IQUB_ENST00000324698.6_Missense_Mutation_p.V88F|IQUB_ENST00000434450.1_Missense_Mutation_p.V88F|IQUB_ENST00000488987.1_Intron	NM_001282855.1	NP_001269784.1	Q8NA54	IQUB_HUMAN	IQ motif and ubiquitin domain containing	88					cilium morphogenesis (GO:0060271)|smoothened signaling pathway (GO:0007224)	acrosomal vesicle (GO:0001669)|motile cilium (GO:0031514)		p.V88F(1)		breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(3)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)	45						GTATATGAAACTTGTCTTGGT	0.398																																						ENST00000466202.1																			1	Substitution - Missense(1)	p.V88F(1)	ovary(1)	breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(3)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)	45						c.(262-264)Gtt>Ttt		IQ motif and ubiquitin domain containing							238	202	214					7																	123152133		2203	4300	6503	SO:0001583	missense	154865							g.chr7:123152133C>A	AK093153	CCDS5787.1	7q31.32	2010-03-19			ENSG00000164675	ENSG00000164675			21995	protein-coding gene	gene with protein product							Standard	NM_178827		Approved	FLJ35834	uc003vko.3	Q8NA54	OTTHUMG00000157347	ENST00000466202.1:c.262G>T	7.37:g.123152133C>A	ENSP00000417769:p.Val88Phe					IQUB_ENST00000434450.1_Missense_Mutation_p.V88F|IQUB_ENST00000488987.1_Intron|IQUB_ENST00000324698.6_Missense_Mutation_p.V88F	p.V88F			Q8NA54	IQUB_HUMAN			2	838	-			88					A4D0X0|Q49AL6|Q4G189|Q5BJD9|Q6NUH6|Q8N9Y2	Missense_Mutation	SNP	ENST00000466202.1	37	c.262G>T	CCDS5787.1	.	.	.	.	.	.	.	.	.	.	C	11.79	1.742963	0.30865	.	.	ENSG00000164675	ENST00000466202;ENST00000324698;ENST00000434450	T;T;T	0.48522	1.83;1.83;0.81	5.1	2.13	0.27403	.	11.468500	0.00481	N	0.000138	T	0.34600	0.0903	N	0.19112	0.55	0.09310	N	1	B;B;B	0.33379	0.41;0.32;0.214	B;B;B	0.35510	0.204;0.192;0.07	T	0.19877	-1.0292	10	0.30854	T	0.27	.	4.1337	0.10160	0.1796:0.6169:0.0:0.2034	.	88;88;88	A1A4Z1;Q8NA54-2;Q8NA54	.;.;IQUB_HUMAN	F	88	ENSP00000417769:V88F;ENSP00000324882:V88F;ENSP00000388498:V88F	ENSP00000324882:V88F	V	-	1	0	IQUB	122939369	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.088000	0.11198	0.347000	0.23924	-0.355000	0.07637	GTT		0.398	IQUB-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348529.1	NM_178827		11	147	1	0	1.08611e-07	1	1.17185e-07	11	147					A	123152133	C	A	123152133	3	1	346	1	0	0	0	0	1	0	0	0	7820	565	20	5	2161	5	IQUB	7	123152133	Missense_Mutation	SNP	C	TCGA-KK-A8IJ-01A-11D-A34U-08	20147458	123152133	35986530	20	17487											
TMEM2	23670	broad.mit.edu	37	chr9	74319545	74319545	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggtatagaaatgtagtccGtggtgccggcccattccagt	9	10	13	9	2	0	1	0	0	0	1	2	2	2	1	4	3	1	2	4	3	4	4			TCGA-KK-A8IJ-01A-11D-A34U-08	TCGA-KK-A8IJ-11A-11D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78522869-eb0b-4497-b8bf-45437235c7c2	22a01dd4-194d-4931-91a3-cfd5406147df	g.chr9:74319545G>A	ENST00000377044.4	-	18	3699	c.3160C>T	c.(3160-3162)Cgg>Tgg	p.R1054W	TMEM2_ENST00000377066.5_Missense_Mutation_p.R991W|TMEM2_ENST00000396272.3_Missense_Mutation_p.R47W	NM_001135820.1|NM_013390.2	NP_001129292.1|NP_037522.1	Q9UHN6	TMEM2_HUMAN	transmembrane protein 2	1054					multicellular organismal development (GO:0007275)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(15)|liver(1)|lung(19)|ovary(2)|prostate(5)|skin(1)|stomach(1)|urinary_tract(2)	56		all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255)		GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16)		AATGTAGTCCGTGGTGCCGGC	0.433																																						ENST00000377044.4																			0				central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(15)|liver(1)|lung(19)|ovary(2)|prostate(5)|skin(1)|stomach(1)|urinary_tract(2)	56						c.(3160-3162)Cgg>Tgg		transmembrane protein 2							122	111	115					9																	74319545		2203	4300	6503	SO:0001583	missense	23670					integral to membrane		g.chr9:74319545G>A		CCDS6638.1, CCDS47979.1	9q21.13	2011-07-19			ENSG00000135048	ENSG00000135048			11869	protein-coding gene	gene with protein product		605835					Standard	NM_013390		Approved		uc011lsa.1	Q9UHN6	OTTHUMG00000020000	ENST00000377044.4:c.3160C>T	9.37:g.74319545G>A	ENSP00000366243:p.Arg1054Trp					TMEM2_ENST00000396272.3_Missense_Mutation_p.R47W|TMEM2_ENST00000377066.5_Missense_Mutation_p.R991W	p.R1054W	NM_001135820.1|NM_013390.2	NP_001129292.1|NP_037522.1	Q9UHN6	TMEM2_HUMAN		GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16)	18	3699	-		all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255)	1054					A6H8W9|B2RTQ6|Q5T838|Q5T839|Q5T840|Q5T841|Q8NBP6|Q9P2D5	Missense_Mutation	SNP	ENST00000377044.4	37	c.3160C>T	CCDS6638.1	.	.	.	.	.	.	.	.	.	.	G	12.77	2.037625	0.35989	.	.	ENSG00000135048	ENST00000377044;ENST00000377066;ENST00000396272;ENST00000377055;ENST00000377043	T;T;T;T;T	0.44881	0.91;0.91;0.91;0.91;0.91	5.58	3.64	0.41730	.	0.449364	0.25458	N	0.030537	T	0.41534	0.1163	L	0.40543	1.245	0.09310	N	1	D;D	0.60160	0.977;0.987	B;P	0.47162	0.339;0.54	T	0.32481	-0.9905	10	0.72032	D	0.01	.	14.4971	0.67698	0.0:0.0:0.561:0.439	.	1054;991	Q9UHN6;Q9UHN6-2	TMEM2_HUMAN;.	W	1054;991;47;83;155	ENSP00000366243:R1054W;ENSP00000366266:R991W;ENSP00000379569:R47W;ENSP00000366254:R83W;ENSP00000366242:R155W	ENSP00000366242:R155W	R	-	1	2	TMEM2	73509365	0.020000	0.18652	0.000000	0.03702	0.216000	0.24613	1.836000	0.39191	0.582000	0.29556	0.561000	0.74099	CGG		0.433	TMEM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052618.2	NM_013390		21	35	0	0	0	1	0	21	35					A	74319545	G	A	74319545	3	1	346	1	0	0	0	0	1	0	0	0	16118	1144	40	1	1019	1	TMEM2	9	74319545	Missense_Mutation	SNP	G	TCGA-KK-A8IJ-01A-11D-A34U-08		74319545	66893886	21	17488											
NUMA1	4926	broad.mit.edu	37	chr11	71719830	71719830	+	Frame_Shift_Del	DEL	A	A	-																															cctggggctcacggctctttAaagcatcagttgccacctgg																								rs139169825	byFrequency	TCGA-KK-A8IJ-01A-11D-A34U-08	TCGA-KK-A8IJ-11A-11D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78522869-eb0b-4497-b8bf-45437235c7c2	22a01dd4-194d-4931-91a3-cfd5406147df	g.chr11:71719830delA	ENST00000393695.3	-	20	5451	c.5120delT	c.(5119-5121)ttafs	p.L1707fs	NUMA1_ENST00000351960.6_Frame_Shift_Del_p.L571fs|NUMA1_ENST00000358965.6_Frame_Shift_Del_p.L1693fs	NM_006185.2	NP_006176.2			nuclear mitotic apparatus protein 1											central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	65						ACGGCTCTTTAAAGCATCAGT	0.577			T	RARA	APL																																	ENST00000393695.3				Dom	yes		11	11q13	4926	T	nuclear mitotic apparatus protein 1			L	RARA		APL		0				central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	65						c.(5119-5121)tafs		nuclear mitotic apparatus protein 1							78	81	80					11																	71719830		2200	4293	6493	SO:0001589	frameshift_variant	0				G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization	chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole	protein binding|structural molecule activity	g.chr11:71719830delA	Z11584	CCDS31633.1, CCDS66156.1	11q13	2008-02-05				ENSG00000137497			8059	protein-coding gene	gene with protein product		164009				8406455	Standard	NM_006185		Approved		uc001orl.1	Q14980		ENST00000393695.3:c.5120delT	11.37:g.71719830delA	ENSP00000377298:p.Leu1707fs					NUMA1_ENST00000351960.6_Frame_Shift_Del_p.L571fs|NUMA1_ENST00000358965.6_Frame_Shift_Del_p.L1693fs	p.L1707fs	NM_006185.2	NP_006176.2	Q14980	NUMA1_HUMAN			20	5451	-			1707						Frame_Shift_Del	DEL	ENST00000393695.3	37	c.5120delT	CCDS31633.1																																																																																				0.577	NUMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395769.1			15	66						15	66	---	---	---	---	-	71719830	A	-	71719830	7	5	346	1	0	1	0	1	0	0	0	0	10750	372	13	0	1259	0	NUMA1	11	71719830	Frame_Shift_Del	DEL	A	TCGA-KK-A8IJ-01A-11D-A34U-08		71719830	63286686	22	17489											
CCDC82	79780	broad.mit.edu	37	chr11	96117466	96117466	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgacttaaatgtttttccTgatcatcctctattatttgt	8	21	4	8	0	2	2	1	2	1	0	4	2	4	2	2	0	0	1	2	0	4	7			TCGA-KK-A8IJ-01A-11D-A34U-08	TCGA-KK-A8IJ-11A-11D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78522869-eb0b-4497-b8bf-45437235c7c2	22a01dd4-194d-4931-91a3-cfd5406147df	g.chr11:96117466T>G	ENST00000278520.5	-	3	874	c.446A>C	c.(445-447)cAg>cCg	p.Q149P	CCDC82_ENST00000525786.1_5'Flank|CCDC82_ENST00000423339.2_Missense_Mutation_p.Q149P|CCDC82_ENST00000542662.1_Missense_Mutation_p.Q149P			Q8N4S0	CCD82_HUMAN	coiled-coil domain containing 82	149			Q -> E (in dbSNP:rs17851661). {ECO:0000269|PubMed:15489334}.							endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)	19		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)		BRCA - Breast invasive adenocarcinoma(274;0.154)		ATGTTTTTCCTGATCATCCTC	0.318																																						ENST00000278520.5																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)	19						c.(445-447)cAg>cCg		coiled-coil domain containing 82							241	223	229					11																	96117466		2201	4297	6498	SO:0001583	missense	79780						protein binding	g.chr11:96117466T>G	AF245436	CCDS8307.1	11q21	2006-03-09			ENSG00000149231	ENSG00000149231			26282	protein-coding gene	gene with protein product						12477932	Standard	NM_024725		Approved	FLJ23518	uc001pfx.4	Q8N4S0	OTTHUMG00000167678	ENST00000278520.5:c.446A>C	11.37:g.96117466T>G	ENSP00000278520:p.Gln149Pro					CCDC82_ENST00000542662.1_Missense_Mutation_p.Q149P|CCDC82_ENST00000423339.2_Missense_Mutation_p.Q149P	p.Q149P			Q8N4S0	CCD82_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.154)	3	874	-		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)	149		Q -> E (in dbSNP:rs17851661).			B3KPU7|Q8WV71|Q9H2Q5|Q9H5E3	Missense_Mutation	SNP	ENST00000278520.5	37	c.446A>C	CCDS8307.1	.	.	.	.	.	.	.	.	.	.	T	0.057	-1.232901	0.01505	.	.	ENSG00000149231	ENST00000278520;ENST00000542662;ENST00000423339;ENST00000538597	T;T;T;T	0.23754	1.89;1.89;1.89;1.89	2.85	-2.91	0.05631	.	.	.	.	.	T	0.10121	0.0248	N	0.08118	0	0.09310	N	1	B;B	0.20164	0.042;0.0	B;B	0.25759	0.063;0.002	T	0.30937	-0.9961	9	0.30078	T	0.28	2.8859	2.2867	0.04128	0.5734:0.101:0.1088:0.2167	.	149;149	Q8N4S0-2;Q8N4S0	.;CCD82_HUMAN	P	149	ENSP00000278520:Q149P;ENSP00000444010:Q149P;ENSP00000397156:Q149P;ENSP00000442723:Q149P	ENSP00000278520:Q149P	Q	-	2	0	CCDC82	95757114	.	.	0.000000	0.03702	0.376000	0.30014	.	.	-0.736000	0.04831	0.102000	0.15555	CAG		0.318	CCDC82-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395542.2	NM_024725		14	118	0	0	0	1	0	14	118					G	96117466	T	G	96117466	3	3	346	1	0	0	0	0	1	0	0	0	2856	1580	55	5	1216	5	CCDC82	11	96117466	Missense_Mutation	SNP	T	TCGA-KK-A8IJ-01A-11D-A34U-08	24397636	96117466	38889050	23	17490											
CASC1	55259	broad.mit.edu	37	chr12	25274826	25274826	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aatctggcttttcagaagaaTtctctaccagcaacaactgt	13	12	6	10	0	3	2	1	0	2	2	4	2	3	2	1	1	4	2	1	1	6	4			TCGA-KK-A8IJ-01A-11D-A34U-08	TCGA-KK-A8IJ-11A-11D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78522869-eb0b-4497-b8bf-45437235c7c2	22a01dd4-194d-4931-91a3-cfd5406147df	g.chr12:25274826T>C	ENST00000320267.9	-	10	1163	c.1082A>G	c.(1081-1083)aAt>aGt	p.N361S	CASC1_ENST00000545133.1_Missense_Mutation_p.N302S|CASC1_ENST00000354189.5_Missense_Mutation_p.N425S|CASC1_ENST00000395990.2_Missense_Mutation_p.N321S|CASC1_ENST00000557684.1_5'UTR|CASC1_ENST00000537577.1_Missense_Mutation_p.N249S|CASC1_ENST00000395987.3_Missense_Mutation_p.N367S	NM_001082973.1	NP_001076442	Q6TDU7	CASC1_HUMAN	cancer susceptibility candidate 1	361										breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(3)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31	Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Melanoma(3;0.0301)|Colorectal(261;0.11)		OV - Ovarian serous cystadenocarcinoma(3;7.42e-20)|Epithelial(3;7.58e-16)|all cancers(3;1.07e-13)			TTCAGAAGAATTCTCTACCAG	0.338																																						ENST00000354189.5																			0				breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(3)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31						c.(1273-1275)aAt>aGt		cancer susceptibility candidate 1							114	114	114					12																	25274826		2203	4300	6503	SO:0001583	missense	55259							g.chr12:25274826T>C	AK093102	CCDS31759.2, CCDS41762.1, CCDS41763.1, CCDS55810.1, CCDS55811.1	12p12.1	2012-04-17			ENSG00000118307	ENSG00000118307		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	29599	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 54"					14583591	Standard	NM_018272		Approved	LAS1, FLJ10921, PPP1R54	uc001rgk.3	Q6TDU7	OTTHUMG00000150195	ENST00000320267.9:c.1082A>G	12.37:g.25274826T>C	ENSP00000313141:p.Asn361Ser					CASC1_ENST00000320267.9_Missense_Mutation_p.N361S|CASC1_ENST00000557684.1_5'UTR|CASC1_ENST00000545133.1_Missense_Mutation_p.N302S|CASC1_ENST00000537577.1_Missense_Mutation_p.N249S|CASC1_ENST00000395987.3_Missense_Mutation_p.N367S|CASC1_ENST00000395990.2_Missense_Mutation_p.N321S	p.N425S	NM_001082972.1	NP_001076441.1	Q6TDU7	CASC1_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;7.42e-20)|Epithelial(3;7.58e-16)|all cancers(3;1.07e-13)		11	1309	-	Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Melanoma(3;0.0301)|Colorectal(261;0.11)		361					B4DNP2|F5H6T6|Q17RL2|Q4G171|Q5U5K5|Q9NV50	Missense_Mutation	SNP	ENST00000320267.9	37	c.1274A>G	CCDS41762.1	.	.	.	.	.	.	.	.	.	.	T	12.13	1.845410	0.32606	.	.	ENSG00000118307	ENST00000354189;ENST00000395987;ENST00000320267;ENST00000395990;ENST00000537577;ENST00000395992;ENST00000545133;ENST00000389246	T;T;T;T;T	0.43294	0.95;1.56;1.56;0.98;0.98	4.34	0.212	0.15240	Casc1 domain (1);	0.505717	0.20335	N	0.094356	T	0.23370	0.0565	L	0.55103	1.725	0.23787	N	0.996849	B;B;P;B;B	0.37370	0.234;0.234;0.592;0.276;0.234	B;B;B;B;B	0.29267	0.099;0.061;0.099;0.1;0.061	T	0.16394	-1.0404	10	0.08599	T	0.76	-22.8918	3.0478	0.06159	0.3785:0.1077:0.0:0.5137	.	249;302;425;361;367	F5H555;F5H6T6;Q6TDU7-3;Q6TDU7;F8W8F9	.;.;.;CASC1_HUMAN;.	S	425;367;361;321;249;367;302;171	ENSP00000346126:N425S;ENSP00000379310:N367S;ENSP00000313141:N361S;ENSP00000379313:N321S;ENSP00000437373:N302S	ENSP00000313141:N361S	N	-	2	0	CASC1	25166093	0.853000	0.29707	0.716000	0.30569	0.723000	0.41478	1.446000	0.35090	0.260000	0.21731	0.383000	0.25322	AAT		0.338	CASC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000316761.1	NM_018272		24	134	0	0	0	1	0	24	134					C	25274826	T	C	25274826	3	2	346	1	0	0	0	0	1	0	0	0	2660	1493	52	4	1092	4	CASC1	12	25274826	Missense_Mutation	SNP	T	TCGA-KK-A8IJ-01A-11D-A34U-08		25274826	108577069	24	17491											
FAM123A	219287	broad.mit.edu	37	chr13	25743973	25743973	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagctgcctggtgttcgcagTggacaggtgatggtgcctgg	6	10	17	8	1	0	1	0	1	0	0	1	2	0	2	2	5	3	3	2	5	1	1			TCGA-KK-A8IJ-01A-11D-A34U-08	TCGA-KK-A8IJ-11A-11D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78522869-eb0b-4497-b8bf-45437235c7c2	22a01dd4-194d-4931-91a3-cfd5406147df	g.chr13:25743973T>C	ENST00000515384.1	-	1	2452	c.1785A>G	c.(1783-1785)ccA>ccG	p.P595P	AMER2_ENST00000357816.2_Silent_p.P476P|AMER2_ENST00000381853.3_Silent_p.P476P|AMER2-AS1_ENST00000413501.1_lincRNA			Q8N7J2	AMER2_HUMAN	APC membrane recruitment protein 2	595					ectoderm development (GO:0007398)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|Wnt signaling pathway (GO:0016055)	plasma membrane (GO:0005886)	phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)										GTGTTCGCAGTGGACAGGTGA	0.572																																						ENST00000357816.2																			0											c.(1426-1428)ccA>ccG		APC membrane recruitment protein 2							174	147	156					13																	25743973		2203	4300	6503	SO:0001819	synonymous_variant	219287							g.chr13:25743973T>C	AK055049	CCDS9312.1, CCDS53859.1	13q12.13	2013-10-11	2012-12-03	2012-12-03	ENSG00000165566	ENSG00000165566		"-"	26360	protein-coding gene	gene with protein product		614659	"family with sequence similarity 123A"	FAM123A		20843316	Standard	XM_005266279		Approved	FLJ25477	uc001uqb.3	Q8N7J2	OTTHUMG00000016602	ENST00000515384.1:c.1785A>G	13.37:g.25743973T>C						AMER2_ENST00000515384.1_Silent_p.P595P|AMER2_ENST00000381853.3_Silent_p.P476P	p.P476P							3	1903	-								Q5RL80|Q5VX56|Q8N593|Q96NN5	Silent	SNP	ENST00000515384.1	37	c.1428A>G	CCDS53859.1																																																																																				0.572	AMER2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000370229.1	NM_152704		4	88	0	0	0	1	0	4	88					C	25743973	T	C	25743973	2	2	346	1	0	0	0	0	0	0	0	1	5422	1683	59	4		4	FAM123A	13	25743973	Silent	SNP	T	TCGA-KK-A8IJ-01A-11D-A34U-08		25743973	89425905	25	17492											
C14orf93	60686	broad.mit.edu	37	chr14	23467792	23467792	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acctgcacgccgctgcccacGctgtcacactcctcttccac	6	8	6	21	3	2	0	1	0	1	0	4	0	4	0	5	0	2	3	5	0	0	1	rs368278703		TCGA-KK-A8IJ-01A-11D-A34U-08	TCGA-KK-A8IJ-11A-11D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78522869-eb0b-4497-b8bf-45437235c7c2	22a01dd4-194d-4931-91a3-cfd5406147df	g.chr14:23467792G>A	ENST00000299088.6	-	2	870	c.441C>T	c.(439-441)agC>agT	p.S147S	RP11-298I3.4_ENST00000555294.1_RNA|C14orf93_ENST00000341470.4_Silent_p.S147S|C14orf93_ENST00000557513.1_5'Flank|C14orf93_ENST00000397382.4_Silent_p.S147S|C14orf93_ENST00000406429.2_Silent_p.S147S|RP11-298I3.4_ENST00000556503.1_RNA|C14orf93_ENST00000397379.3_Silent_p.S147S|C14orf93_ENST00000397377.1_5'UTR	NM_001130708.1|NM_021944.2	NP_001124180.1|NP_068763.2	Q9H972	CN093_HUMAN	chromosome 14 open reading frame 93	147						extracellular region (GO:0005576)	poly(A) RNA binding (GO:0044822)			kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(2)|urinary_tract(1)	17	all_cancers(95;3.3e-05)			GBM - Glioblastoma multiforme(265;0.0127)		CGCTGCCCACGCTGTCACACT	0.642																																						ENST00000299088.6																			0				kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(2)|urinary_tract(1)	17						c.(439-441)agC>agT		chromosome 14 open reading frame 93		G	,,	0,4406		0,0,2203	41	41	41		441,441,441	0.2	1	14		41	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous	C14orf93	NM_001130706.1,NM_001130708.1,NM_021944.2	,,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,,	147/539,147/539,147/539	23467792	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	60686					extracellular region		g.chr14:23467792G>A	AK023026	CCDS9583.1, CCDS61399.1, CCDS61400.1	14q11.1	2012-09-25			ENSG00000100802	ENSG00000100802			20162	protein-coding gene	gene with protein product							Standard	XM_005267971		Approved	FLJ12154	uc001wih.3	Q9H972	OTTHUMG00000028712	ENST00000299088.6:c.441C>T	14.37:g.23467792G>A						C14orf93_ENST00000397379.3_Silent_p.S147S|RP11-298I3.4_ENST00000556503.1_RNA|C14orf93_ENST00000406429.2_Silent_p.S147S|C14orf93_ENST00000397377.1_5'UTR|C14orf93_ENST00000397382.4_Silent_p.S147S|C14orf93_ENST00000341470.4_Silent_p.S147S	p.S147S	NM_001130708.1|NM_021944.2	NP_001124180.1|NP_068763.2	Q9H972	CN093_HUMAN		GBM - Glioblastoma multiforme(265;0.0127)	2	870	-	all_cancers(95;3.3e-05)		147					B7WP03|D3DS38|D3DS39|Q86SE6|Q96CF7|Q9HA68	Silent	SNP	ENST00000299088.6	37	c.441C>T	CCDS9583.1																																																																																				0.642	C14orf93-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071688.5	NM_021944		4	37	0	0	0	1	0	4	37					A	23467792	G	A	23467792	2	1	346	1	0	0	0	0	0	0	0	1	1782	1078	38	1		1	C14orf93	14	23467792	Silent	SNP	G	TCGA-KK-A8IJ-01A-11D-A34U-08		23467792	83881748	26	17493											
HECTD1	25831	broad.mit.edu	37	chr14	31617976	31617976	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tcagttttctgcctcttttgCcagtccagccagtcacaaat	8	14	6	13	0	4	0	2	0	2	0	5	0	5	0	4	0	3	1	4	0	1	4			TCGA-KK-A8IJ-01A-11D-A34U-08	TCGA-KK-A8IJ-11A-11D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78522869-eb0b-4497-b8bf-45437235c7c2	22a01dd4-194d-4931-91a3-cfd5406147df	g.chr14:31617976C>T	ENST00000399332.1	-	15	2935	c.2447G>A	c.(2446-2448)gGc>gAc	p.G816D	HECTD1_ENST00000553700.1_Missense_Mutation_p.G816D	NM_015382.2	NP_056197.2	Q9ULT8	HECD1_HUMAN	HECT domain containing E3 ubiquitin protein ligase 1	816					neural tube closure (GO:0001843)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|metal ion binding (GO:0046872)|ubiquitin-protein transferase activity (GO:0004842)			breast(10)|endometrium(7)|kidney(5)|large_intestine(12)|lung(23)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	70	Hepatocellular(127;0.0877)|Breast(36;0.176)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)		GCCTCTTTTGCCAGTCCAGCC	0.323																																						ENST00000399332.1																			0				breast(10)|endometrium(7)|kidney(5)|large_intestine(12)|lung(23)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	70						c.(2446-2448)gGc>gAc		HECT domain containing E3 ubiquitin protein ligase 1							83	78	79					14																	31617976		1802	4063	5865	SO:0001583	missense	25831				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	metal ion binding|protein binding|ubiquitin-protein ligase activity	g.chr14:31617976C>T	AB032957	CCDS41939.1	14q12	2013-01-10	2012-02-23		ENSG00000092148	ENSG00000092148		"Ankyrin repeat domain containing"	20157	protein-coding gene	gene with protein product			"HECT domain containing 1"			10574461	Standard	XM_005267502		Approved	KIAA1131	uc001wrc.1	Q9ULT8	OTTHUMG00000170670	ENST00000399332.1:c.2447G>A	14.37:g.31617976C>T	ENSP00000382269:p.Gly816Asp					HECTD1_ENST00000553700.1_Missense_Mutation_p.G816D	p.G816D	NM_015382.2	NP_056197.2	Q9ULT8	HECD1_HUMAN	LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)	15	2935	-	Hepatocellular(127;0.0877)|Breast(36;0.176)		816					D3DS86|Q6P445|Q86VJ1|Q96F34|Q9UFZ7	Missense_Mutation	SNP	ENST00000399332.1	37	c.2447G>A	CCDS41939.1	.	.	.	.	.	.	.	.	.	.	C	19.25	3.790689	0.70452	.	.	ENSG00000092148	ENST00000553700;ENST00000261312;ENST00000399332;ENST00000553957;ENST00000556224	T;T;T;T	0.16897	2.31;2.31;2.31;2.31	6.1	6.1	0.99115	Armadillo-type fold (1);	0.000000	0.64402	U	0.000001	T	0.36580	0.0972	L	0.40543	1.245	0.80722	D	1	P;D	0.89917	0.915;1.0	B;D	0.79108	0.366;0.992	T	0.00559	-1.1671	10	0.48119	T	0.1	-1.2456	20.325	0.98701	0.0:1.0:0.0:0.0	.	816;816	D3DS86;Q9ULT8	.;HECD1_HUMAN	D	816;816;816;290;816	ENSP00000450697:G816D;ENSP00000382269:G816D;ENSP00000451860:G290D;ENSP00000452015:G816D	ENSP00000261312:G816D	G	-	2	0	HECTD1	30687727	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.800000	0.85949	2.902000	0.99343	0.650000	0.86243	GGC		0.323	HECTD1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409942.1			3	57	0	0	0	1	0	3	57					T	31617976	C	T	31617976	3	4	346	1	0	0	0	0	1	0	0	0	7039	739	26	3	5501	3	HECTD1	14	31617976	Missense_Mutation	SNP	C	TCGA-KK-A8IJ-01A-11D-A34U-08	8150184	31617976	75731564	27	17494											
EML5	161436	broad.mit.edu	37	chr14	89148373	89148373	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacacctctccttccatgtgTccctataaagaaaacatagg	13	10	5	13	0	1	1	0	0	1	1	4	1	3	1	4	1	1	0	4	1	6	4			TCGA-KK-A8IJ-01A-11D-A34U-08	TCGA-KK-A8IJ-11A-11D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78522869-eb0b-4497-b8bf-45437235c7c2	22a01dd4-194d-4931-91a3-cfd5406147df	g.chr14:89148373T>C	ENST00000380664.5	-	21	2984	c.2985A>G	c.(2983-2985)ggA>ggG	p.G995G	EML5_ENST00000554922.1_Silent_p.G995G|EML5_ENST00000352093.5_Silent_p.G957G			Q05BV3	EMAL5_HUMAN	echinoderm microtubule associated protein like 5	995						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)	catalytic activity (GO:0003824)			breast(1)|endometrium(3)|kidney(4)|large_intestine(17)|lung(14)|ovary(3)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						CTTCCATGTGTCCCTATAAAG	0.353																																						ENST00000554922.1																			0				breast(1)|endometrium(3)|kidney(4)|large_intestine(17)|lung(14)|ovary(3)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						c.(2983-2985)ggA>ggG		echinoderm microtubule associated protein like 5							110	109	109					14																	89148373		1884	4102	5986	SO:0001819	synonymous_variant	161436					cytoplasm|microtubule		g.chr14:89148373T>C	AY357725	CCDS45148.1	14q31.3	2013-01-10				ENSG00000165521		"WD repeat domain containing"	18197	protein-coding gene	gene with protein product							Standard	NM_183387		Approved	HuEMAP-2, EMAP-2	uc021ryf.1	Q05BV3		ENST00000380664.5:c.2985A>G	14.37:g.89148373T>C						EML5_ENST00000352093.5_Silent_p.G957G|EML5_ENST00000380664.5_Silent_p.G995G	p.G995G	NM_183387.2	NP_899243.1	Q05BV3	EMAL5_HUMAN			21	3233	-			995					B9EK59|Q5H9N6|Q6UYC9|Q6ZRP3|Q6ZT03	Silent	SNP	ENST00000380664.5	37	c.2985A>G	CCDS45148.1																																																																																				0.353	EML5-010	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000410491.1			9	72	0	0	0	1	0	9	72					C	89148373	T	C	89148373	2	2	346	1	0	0	0	0	0	0	0	1	5100	1654	58	4		4	EML5	14	89148373	Silent	SNP	T	TCGA-KK-A8IJ-01A-11D-A34U-08	57530397	89148373	18201167	28	17495											
RYR3	6263	broad.mit.edu	37	chr15	33954430	33954430	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acacgctgaggctctacagcGcggtgtgcgccctgggaaac	8	6	14	13	4	1	1	0	1	1	0	1	2	1	2	1	3	4	2	1	3	2	1			TCGA-KK-A8IJ-01A-11D-A34U-08	TCGA-KK-A8IJ-11A-11D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78522869-eb0b-4497-b8bf-45437235c7c2	22a01dd4-194d-4931-91a3-cfd5406147df	g.chr15:33954430G>A	ENST00000389232.4	+	35	4769	c.4699G>A	c.(4699-4701)Gcg>Acg	p.A1567T	RYR3_ENST00000415757.3_Missense_Mutation_p.A1567T	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	1567	4 X approximate repeats.				calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		GCTCTACAGCGCGGTGTGCGC	0.607																																						ENST00000389232.4																			0				NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311						c.(4699-4701)Gcg>Acg		ryanodine receptor 3							52	51	52					15																	33954430		2077	4222	6299	SO:0001583	missense	6263				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr15:33954430G>A		CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"Ion channels / Ryanodine receptors", "EF-hand domain containing"	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.4699G>A	15.37:g.33954430G>A	ENSP00000373884:p.Ala1567Thr					RYR3_ENST00000415757.3_Missense_Mutation_p.A1567T	p.A1567T	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)	35	4769	+		all_lung(180;7.18e-09)	1567			4 X approximate repeats.		O15175|Q15412	Missense_Mutation	SNP	ENST00000389232.4	37	c.4699G>A	CCDS45210.1	.	.	.	.	.	.	.	.	.	.	G	10.77	1.444235	0.25987	.	.	ENSG00000198838	ENST00000389232;ENST00000415757;ENST00000361728	D;D	0.97232	-4.3;-4.3	5.1	5.1	0.69264	.	0.140237	0.47852	D	0.000214	D	0.96059	0.8716	M	0.80746	2.51	0.42006	D	0.990914	B;P	0.44578	0.372;0.838	B;B	0.39805	0.031;0.31	D	0.96084	0.9056	10	0.87932	D	0	.	11.5806	0.50889	0.0:0.0:0.7:0.3	.	1567;1567	Q15413-2;Q15413	.;RYR3_HUMAN	T	1567	ENSP00000373884:A1567T;ENSP00000399610:A1567T	ENSP00000354735:A1567T	A	+	1	0	RYR3	31741722	1.000000	0.71417	0.348000	0.25681	0.029000	0.11900	4.890000	0.63178	2.673000	0.90976	0.650000	0.86243	GCG		0.607	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1			3	12	0	0	0	1	0	3	12					A	33954430	G	A	33954430	3	1	346	1	0	0	0	0	1	0	0	0	13770	1087	38	1	4837	1	RYR3	15	33954430	Missense_Mutation	SNP	G	TCGA-KK-A8IJ-01A-11D-A34U-08		33954430	68576962	29	17496											
NARG2	79664	broad.mit.edu	37	chr15	60741602	60741602	+	Frame_Shift_Del	DEL	T	T	-																															atttttattagaagtttcaaTttcctgagaattttctaact																										TCGA-KK-A8IJ-01A-11D-A34U-08	TCGA-KK-A8IJ-11A-11D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78522869-eb0b-4497-b8bf-45437235c7c2	22a01dd4-194d-4931-91a3-cfd5406147df	g.chr15:60741602delT	ENST00000261520.4	-	10	1798	c.1564delA	c.(1564-1566)attfs	p.I522fs	NARG2_ENST00000439632.1_Frame_Shift_Del_p.I385fs	NM_024611.4	NP_078887.2														breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	32						GAAGTTTCAATTTCCTGAGAA	0.313																																						ENST00000261520.4																			0				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	32						c.(1564-1566)ttfs		NMDA receptor regulated 2							57	60	59					15																	60741602		2202	4298	6500	SO:0001589	frameshift_variant	79664					nucleus		g.chr15:60741602delT																												ENST00000261520.4:c.1564delA	15.37:g.60741602delT	ENSP00000261520:p.Ile522fs					NARG2_ENST00000439632.1_Frame_Shift_Del_p.I385fs	p.I522fs	NM_024611.4	NP_078887.2	Q659A1	NARG2_HUMAN			10	1798	-			522						Frame_Shift_Del	DEL	ENST00000261520.4	37	c.1564delA	CCDS10176.1																																																																																				0.313	NARG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256136.1			15	98						15	98	---	---	---	---	-	60741602	T	-	60741602	7	5	346	1	0	1	0	1	0	0	0	0	10169	1493	52	0	1412	0	NARG2	15	60741602	Frame_Shift_Del	DEL	T	TCGA-KK-A8IJ-01A-11D-A34U-08	26787172	60741602	41789790	30	17497											
FTO	79068	broad.mit.edu	37	chr16	53913760	53913760	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggttctgtctcaacagtgctCaacaggaaccttggattata	11	12	9	9	0	3	0	2	0	2	0	4	2	3	2	1	3	4	2	1	3	5	4			TCGA-KK-A8IJ-01A-11D-A34U-08	TCGA-KK-A8IJ-11A-11D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78522869-eb0b-4497-b8bf-45437235c7c2	22a01dd4-194d-4931-91a3-cfd5406147df	g.chr16:53913760C>G	ENST00000471389.1	+	6	1202	c.980C>G	c.(979-981)tCa>tGa	p.S327*	FTO_ENST00000394647.3_Nonsense_Mutation_p.S31*	NM_001080432.2	NP_001073901.1	Q9C0B1	FTO_HUMAN	fat mass and obesity associated	327	Fe2OG dioxygenase domain.				adipose tissue development (GO:0060612)|DNA dealkylation involved in DNA repair (GO:0006307)|DNA demethylation (GO:0080111)|oxidative demethylation (GO:0070989)|oxidative single-stranded DNA demethylation (GO:0035552)|oxidative single-stranded RNA demethylation (GO:0035553)|regulation of lipid storage (GO:0010883)|regulation of multicellular organism growth (GO:0040014)|regulation of respiratory system process (GO:0044065)|regulation of white fat cell proliferation (GO:0070350)|RNA repair (GO:0042245)|temperature homeostasis (GO:0001659)	nuclear speck (GO:0016607)|nucleus (GO:0005634)	DNA-N1-methyladenine dioxygenase activity (GO:0043734)|ferrous iron binding (GO:0008198)|oxidative DNA demethylase activity (GO:0035516)|oxidative RNA demethylase activity (GO:0035515)			endometrium(1)|kidney(2)|large_intestine(7)|lung(13)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	29						CAACAGTGCTCAACAGGAACC	0.413																																						ENST00000471389.1																			0				endometrium(1)|kidney(2)|large_intestine(7)|lung(13)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	29						c.(979-981)tCa>tGa		fat mass and obesity associated							170	157	161					16																	53913760		2198	4300	6498	SO:0001587	stop_gained	79068				DNA dealkylation involved in DNA repair|oxidative single-stranded DNA demethylation|oxidative single-stranded RNA demethylation|RNA repair	nucleus	DNA-N1-methyladenine dioxygenase activity|ferrous iron binding|oxidative DNA demethylase activity|oxidative RNA demethylase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr16:53913760C>G	BC003583	CCDS32448.1	16q12.2	2013-11-15			ENSG00000140718	ENSG00000140718		"Alkylation repair homologs"	24678	protein-coding gene	gene with protein product	"AlkB homolog 9", "alpha-ketoglutarate-dependent dioxygenase"	610966				17434869, 17991826, 22002720	Standard	NM_001080432		Approved	KIAA1752, MGC5149, ALKBH9	uc002ehr.3	Q9C0B1	OTTHUMG00000158780	ENST00000471389.1:c.980C>G	16.37:g.53913760C>G	ENSP00000418823:p.Ser327*					FTO_ENST00000394647.3_Nonsense_Mutation_p.S31*	p.S327*	NM_001080432.2	NP_001073901.1	Q9C0B1	FTO_HUMAN			6	1202	+			327			Fe2OG dioxygenase domain.		A2RUH1|B2RNS0|Q0P676|Q7Z785	Nonsense_Mutation	SNP	ENST00000471389.1	37	c.980C>G	CCDS32448.1	.	.	.	.	.	.	.	.	.	.	C	40	8.235690	0.98719	.	.	ENSG00000140718	ENST00000471389;ENST00000394647	.	.	.	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-8.426	18.6788	0.91539	0.0:1.0:0.0:0.0	.	.	.	.	X	327;31	.	ENSP00000378142:S31X	S	+	2	0	FTO	52471261	0.998000	0.40836	0.965000	0.40720	0.979000	0.70002	5.025000	0.64097	2.761000	0.94854	0.650000	0.86243	TCA		0.413	FTO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352196.1	NM_001080432		3	79	0	0	0	1	0	3	79					G	53913760	C	G	53913760	4	3	346	1	0	0	0	0	0	1	0	0	6086	838	29	5	1002	5	FTO	16	53913760	Nonsense_Mutation	SNP	C	TCGA-KK-A8IJ-01A-11D-A34U-08		53913760	36440993	31	17498											
SMURF2	64750	broad.mit.edu	37	chr17	62589625	62589625	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	caaccgagaaatccagcaccTtgtttcttatggatcttctt	10	14	6	11	1	3	1	0	0	3	1	4	3	4	2	3	1	2	2	3	1	3	5			TCGA-KK-A8IJ-01A-11D-A34U-08	TCGA-KK-A8IJ-11A-11D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78522869-eb0b-4497-b8bf-45437235c7c2	22a01dd4-194d-4931-91a3-cfd5406147df	g.chr17:62589625T>G	ENST00000262435.9	-	4	454	c.267A>C	c.(265-267)caA>caC	p.Q89H	SMURF2_ENST00000578200.1_Intron	NM_022739.3	NP_073576.1	Q9HAU4	SMUF2_HUMAN	SMAD specific E3 ubiquitin protein ligase 2	89	C2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				BMP signaling pathway (GO:0030509)|gene expression (GO:0010467)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent protein catabolic process (GO:0006511)|ubiquitin-dependent SMAD protein catabolic process (GO:0030579)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ubiquitin ligase complex (GO:0000151)	identical protein binding (GO:0042802)|ligase activity (GO:0016874)|SMAD binding (GO:0046332)|ubiquitin-protein transferase activity (GO:0004842)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)|skin(4)	22	Breast(5;1.32e-14)		BRCA - Breast invasive adenocarcinoma(8;9.88e-12)			ATCCAGCACCTTGTTTCTTAT	0.398																																						ENST00000262435.9																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)|skin(4)	22						c.(265-267)caA>caC		SMAD specific E3 ubiquitin protein ligase 2							117	103	108					17																	62589625		2203	4300	6503	SO:0001583	missense	64750				BMP signaling pathway|negative regulation of transcription, DNA-dependent|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of transforming growth factor beta receptor signaling pathway|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent SMAD protein catabolic process	cytosol|membrane raft|nucleus|plasma membrane|ubiquitin ligase complex	identical protein binding|SMAD binding|ubiquitin-protein ligase activity	g.chr17:62589625T>G	AF301463	CCDS32707.1	17q22-q23	2012-10-05			ENSG00000108854	ENSG00000108854			16809	protein-coding gene	gene with protein product		605532				11016919	Standard	XM_005257585		Approved		uc002jep.1	Q9HAU4	OTTHUMG00000179189	ENST00000262435.9:c.267A>C	17.37:g.62589625T>G	ENSP00000262435:p.Gln89His					SMURF2_ENST00000578200.1_Intron	p.Q89H	NM_022739.3	NP_073576.1	Q9HAU4	SMUF2_HUMAN	BRCA - Breast invasive adenocarcinoma(8;9.88e-12)		4	454	-	Breast(5;1.32e-14)		89			C2.		Q52LL1|Q9H260	Missense_Mutation	SNP	ENST00000262435.9	37	c.267A>C	CCDS32707.1	.	.	.	.	.	.	.	.	.	.	T	11.31	1.601440	0.28534	.	.	ENSG00000108854	ENST00000262435	T	0.67345	-0.26	5.73	4.65	0.58169	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	T	0.66799	0.2826	L	0.41632	1.29	0.58432	D	0.999998	P	0.48230	0.907	P	0.56278	0.795	T	0.65508	-0.6151	10	0.46703	T	0.11	.	6.3304	0.21266	0.0:0.2931:0.0:0.7068	.	89	Q9HAU4	SMUF2_HUMAN	H	89	ENSP00000262435:Q89H	ENSP00000262435:Q89H	Q	-	3	2	SMURF2	60020087	0.999000	0.42202	1.000000	0.80357	0.997000	0.91878	0.668000	0.25127	0.993000	0.38866	0.533000	0.62120	CAA		0.398	SMURF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445227.1	NM_022739		14	75	0	0	0	1	0	14	75					G	62589625	T	G	62589625	3	3	346	1	0	0	0	0	1	0	0	0	14820	1606	56	5	2043	5	SMURF2	17	62589625	Missense_Mutation	SNP	T	TCGA-KK-A8IJ-01A-11D-A34U-08		62589625	18605585	32	17499											
ZNF823	55552	broad.mit.edu	37	chr19	11832823	11832823	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttttaagttactgaaatgaCtgaaggcttttctacatgtt	11	17	7	6	0	1	3	0	3	1	0	1	3	1	3	0	1	2	3	0	1	5	7			TCGA-KK-A8IJ-01A-11D-A34U-08	TCGA-KK-A8IJ-11A-11D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78522869-eb0b-4497-b8bf-45437235c7c2	22a01dd4-194d-4931-91a3-cfd5406147df	g.chr19:11832823C>A	ENST00000341191.6	-	4	1679	c.1526G>T	c.(1525-1527)aGt>aTt	p.S509I	ZNF823_ENST00000545749.1_Missense_Mutation_p.S327I	NM_001080493.2	NP_001073962.1	P16415	ZN823_HUMAN	zinc finger protein 823	509					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)	26						ACTGAAATGACTGAAGGCTTT	0.378										HNSCC(68;0.2)																												ENST00000341191.6																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)	26						c.(1525-1527)aGt>aTt		zinc finger protein 823							63	69	67					19																	11832823		2186	4292	6478	SO:0001583	missense	55552				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:11832823C>A	X51760	CCDS45981.1	19p13.2	2013-01-08			ENSG00000197933	ENSG00000197933		"Zinc fingers, C2H2-type", "-"	30936	protein-coding gene	gene with protein product	"ZFP 36 for a zinc finger protein"						Standard	XM_006722789		Approved	HSZFP36	uc002msm.2	P16415	OTTHUMG00000156528	ENST00000341191.6:c.1526G>T	19.37:g.11832823C>A	ENSP00000340683:p.Ser509Ile	HNSCC(68;0.2)				ZNF823_ENST00000545749.1_Missense_Mutation_p.S327I	p.S509I	NM_001080493.2	NP_001073962.1	P16415	ZN823_HUMAN			4	1679	-			509					A0PJL4|B7Z8D4|Q6P4A9	Missense_Mutation	SNP	ENST00000341191.6	37	c.1526G>T	CCDS45981.1	.	.	.	.	.	.	.	.	.	.	N	10.94	1.492372	0.26774	.	.	ENSG00000197933	ENST00000545749;ENST00000341191;ENST00000431998	T;T;T	0.05025	3.51;3.51;3.51	0.672	-1.06	0.10002	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.06690	0.0171	L	0.43152	1.355	0.09310	N	1	D	0.59357	0.985	P	0.49192	0.602	T	0.28933	-1.0028	9	0.25106	T	0.35	.	2.351	0.04283	0.0:0.4035:0.3331:0.2633	.	509	P16415	ZN823_HUMAN	I	327;509;465	ENSP00000440162:S327I;ENSP00000340683:S509I;ENSP00000410654:S465I	ENSP00000340683:S509I	S	-	2	0	ZNF823	11693823	0.000000	0.05858	0.000000	0.03702	0.618000	0.37518	-2.635000	0.00868	-0.267000	0.09325	0.305000	0.20034	AGT		0.378	ZNF823-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344516.2	NM_001080493		9	76	1	0	3.09899e-07	1	3.25791e-07	9	76					A	11832823	C	A	11832823	3	1	346	1	0	0	0	0	1	0	0	0	18176	565	20	5	310	5	ZNF823	19	11832823	Missense_Mutation	SNP	C	TCGA-KK-A8IJ-01A-11D-A34U-08		11832823	47296160	33	17500											
SFRS14	10147	broad.mit.edu	37	chr19	19115404	19115404	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	attgatggacatagttcaaaCactttctttcgatagaattt	13	16	6	6	1	2	2	1	1	1	1	3	4	2	3	0	1	1	1	0	1	4	7			TCGA-KK-A8IJ-01A-11D-A34U-08	TCGA-KK-A8IJ-11A-11D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78522869-eb0b-4497-b8bf-45437235c7c2	22a01dd4-194d-4931-91a3-cfd5406147df	g.chr19:19115404C>T	ENST00000601879.1	-	7	2799	c.2502G>A	c.(2500-2502)gtG>gtA	p.V834V	SUGP2_ENST00000337018.6_Silent_p.V834V|SUGP2_ENST00000452918.2_Silent_p.V834V|SUGP2_ENST00000600377.1_Silent_p.V848V|SUGP2_ENST00000456085.2_Silent_p.V603V			Q8IX01	SUGP2_HUMAN	SURP and G patch domain containing 2	834					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	43						ATAGTTCAAACACTTTCTTTC	0.458																																						ENST00000601879.1																			0				NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	43						c.(2500-2502)gtG>gtA		SURP and G patch domain containing 2							71	70	70					19																	19115404		2203	4300	6503	SO:0001819	synonymous_variant	10147				mRNA processing|RNA splicing	nucleus	RNA binding	g.chr19:19115404C>T	AB002363	CCDS12392.1	19p13	2013-01-28	2010-08-10	2010-08-10	ENSG00000064607	ENSG00000064607		"G patch domain containing"	18641	protein-coding gene	gene with protein product		607993	"splicing factor, arginine/serine-rich 14"	SFRS14		12594045	Standard	NM_014884		Approved	KIAA0365	uc002nkx.2	Q8IX01		ENST00000601879.1:c.2502G>A	19.37:g.19115404C>T						SUGP2_ENST00000456085.2_Silent_p.V603V|SUGP2_ENST00000452918.2_Silent_p.V834V|SUGP2_ENST00000600377.1_Silent_p.V848V|SUGP2_ENST00000337018.6_Silent_p.V834V	p.V834V			Q8IX01	SUGP2_HUMAN			7	2799	-			834					C9JI71|O15071|O60369|Q5JPH7|Q8WUF7	Silent	SNP	ENST00000601879.1	37	c.2502G>A	CCDS12392.1																																																																																				0.458	SUGP2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000464627.1	NM_001017392		24	58	0	0	0	1	0	24	58					T	19115404	C	T	19115404	2	4	346	1	0	0	0	0	0	0	0	1	14170	465	17	3		3	SFRS14	19	19115404	Silent	SNP	C	TCGA-KK-A8IJ-01A-11D-A34U-08	7282581	19115404	40013579	34	17501											
ZNF615	284370	broad.mit.edu	37	chr19	52496378	52496378	+	Frame_Shift_Del	DEL	A	A	-																															acattcagtacatgcaaaggAagtctttcctgtgtgaaatc																										TCGA-KK-A8IJ-01A-11D-A34U-08	TCGA-KK-A8IJ-11A-11D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78522869-eb0b-4497-b8bf-45437235c7c2	22a01dd4-194d-4931-91a3-cfd5406147df	g.chr19:52496378delA	ENST00000602063.1	-	6	2300	c.1951delT	c.(1951-1953)tccfs	p.S651fs	ZNF615_ENST00000594083.1_Frame_Shift_Del_p.S662fs|ZNF615_ENST00000376716.5_Frame_Shift_Del_p.S651fs|ZNF615_ENST00000391795.3_Frame_Shift_Del_p.S656fs|ZNF615_ENST00000598071.1_Frame_Shift_Del_p.S662fs			Q8N8J6	ZN615_HUMAN	zinc finger protein 615	651					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(5)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	42		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.00142)|OV - Ovarian serous cystadenocarcinoma(262;0.019)		CATGCAAAGGAAGTCTTTCCT	0.388																																						ENST00000602063.1																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(5)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	42						c.(1951-1953)ccfs		zinc finger protein 615							163	163	163					19																	52496378		2203	4300	6503	SO:0001589	frameshift_variant	284370				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52496378delA	AK096691	CCDS12846.1, CCDS59418.1	19q13.41	2013-01-08						"Zinc fingers, C2H2-type", "-"	24740	protein-coding gene	gene with protein product						12477932	Standard	NM_001199324		Approved	FLJ33710	uc002pyf.2	Q8N8J6		ENST00000602063.1:c.1951delT	19.37:g.52496378delA	ENSP00000473089:p.Ser651fs					ZNF615_ENST00000376716.5_Frame_Shift_Del_p.S651fs|ZNF615_ENST00000391795.3_Frame_Shift_Del_p.S656fs|ZNF615_ENST00000598071.1_Frame_Shift_Del_p.S662fs|ZNF615_ENST00000594083.1_Frame_Shift_Del_p.S662fs	p.S651fs			Q8N8J6	ZN615_HUMAN		GBM - Glioblastoma multiforme(134;0.00142)|OV - Ovarian serous cystadenocarcinoma(262;0.019)	6	2300	-		all_neural(266;0.117)	651					B7ZKW9|Q2M2Y6|Q5CZB0|Q6ZMT7|Q6ZRB3	Frame_Shift_Del	DEL	ENST00000602063.1	37	c.1951delT	CCDS12846.1																																																																																				0.388	ZNF615-009	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462391.1	NM_198480		19	178						19	178	---	---	---	---	-	52496378	A	-	52496378	7	5	346	1	0	1	0	1	0	0	0	0	18037	246	9	0	248	0	ZNF615	19	52496378	Frame_Shift_Del	DEL	A	TCGA-KK-A8IJ-01A-11D-A34U-08	33380974	52496378	6632605	35	17502											
NLRP4	147945	broad.mit.edu	37	chr19	56369968	56369968	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaggccctgtgctccctggcTgcagagggtatgtggacaga	8	8	15	10	0	0	2	0	0	0	2	1	3	1	3	2	4	2	4	2	4	2	1			TCGA-KK-A8IJ-01A-11D-A34U-08	TCGA-KK-A8IJ-11A-11D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78522869-eb0b-4497-b8bf-45437235c7c2	22a01dd4-194d-4931-91a3-cfd5406147df	g.chr19:56369968T>A	ENST00000301295.6	+	3	1631	c.1209T>A	c.(1207-1209)gcT>gcA	p.A403A	NLRP4_ENST00000346986.5_Silent_p.A403A|NLRP4_ENST00000587891.1_Silent_p.A328A	NM_134444.4	NP_604393.2	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	403	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of type I interferon production (GO:0032481)|regulation of type I interferon production (GO:0032479)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		GCTCCCTGGCTGCAGAGGGTA	0.572																																						ENST00000301295.6																			0				breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42						c.(1207-1209)gcT>gcA		NLR family, pyrin domain containing 4							78	79	79					19																	56369968		2203	4300	6503	SO:0001819	synonymous_variant	147945						ATP binding	g.chr19:56369968T>A	AF479747	CCDS12936.1	19q13.43	2009-03-27	2006-12-08	2006-12-08				"Nucleotide-binding domain and leucine rich repeat containing"	22943	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 4", "cancer/testis antigen 58"	609645	"NACHT, leucine rich repeat and PYD containing 4"	NALP4		12563287, 12019269	Standard	NM_134444		Approved	PYPAF4, FLJ32126, PAN2, RNH2, CLR19.5, CT58	uc002qmd.4	Q96MN2		ENST00000301295.6:c.1209T>A	19.37:g.56369968T>A						NLRP4_ENST00000587891.1_Silent_p.A328A|NLRP4_ENST00000346986.5_Silent_p.A403A	p.A403A	NM_134444.4	NP_604393.2	Q96MN2	NALP4_HUMAN		GBM - Glioblastoma multiforme(193;0.0606)	3	1631	+		Colorectal(82;0.0002)|Ovarian(87;0.221)	403			NACHT.		Q86W87|Q96AY6	Silent	SNP	ENST00000301295.6	37	c.1209T>A	CCDS12936.1																																																																																				0.572	NLRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457367.2	NM_134444		5	63	0	0	0	1	0	5	63					A	56369968	T	A	56369968	2	1	346	1	0	0	0	0	0	0	0	1	10479	1567	55	5		5	NLRP4	19	56369968	Silent	SNP	T	TCGA-KK-A8IJ-01A-11D-A34U-08	3873590	56369968	2759015	36	17503											
ProSAPiP1	9762	broad.mit.edu	37	chr20	3145297	3145297	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtactcgatcaccttctcctTctcctccagccacacgcggc	6	10	6	19	3	3	0	1	0	2	0	7	1	4	0	5	1	2	1	5	1	1	3			TCGA-KK-A8IJ-01A-11D-A34U-08	TCGA-KK-A8IJ-11A-11D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78522869-eb0b-4497-b8bf-45437235c7c2	22a01dd4-194d-4931-91a3-cfd5406147df	g.chr20:3145297T>G	ENST00000329152.3	-	3	3222	c.1825A>C	c.(1825-1827)Aag>Cag	p.K609Q	LZTS3_ENST00000360342.3_Missense_Mutation_p.K563Q|LZTS3_ENST00000337576.5_Missense_Mutation_p.K563Q			O60299	LZTS3_HUMAN		609						cell junction (GO:0030054)|cytoplasm (GO:0005737)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)											ACCTTCTCCTTCTCCTCCAGC	0.711																																						ENST00000329152.3																			0											c.(1825-1827)Aag>Cag									40	34	36					20																	3145297		2202	4299	6501	SO:0001583	missense	0							g.chr20:3145297T>G																												ENST00000329152.3:c.1825A>C	20.37:g.3145297T>G	ENSP00000332123:p.Lys609Gln					LZTS3_ENST00000360342.3_Missense_Mutation_p.K563Q|LZTS3_ENST00000337576.5_Missense_Mutation_p.K563Q	p.K609Q	NM_014731.2	NP_055546.1					3	3222	-								A2A2Q7|D3DVX6|Q8IXX8	Missense_Mutation	SNP	ENST00000329152.3	37	c.1825A>C	CCDS13049.1	.	.	.	.	.	.	.	.	.	.	T	25.2	4.613089	0.87258	.	.	ENSG00000088899	ENST00000329152;ENST00000360342;ENST00000337576	T;T;T	0.61392	0.11;0.11;0.11	4.77	4.77	0.60923	.	0.000000	0.85682	D	0.000000	T	0.75206	0.3818	M	0.79475	2.455	0.80722	D	1	D;D	0.76494	0.989;0.999	D;D	0.85130	0.978;0.997	T	0.76621	-0.2892	10	0.42905	T	0.14	-30.2174	14.4504	0.67382	0.0:0.0:0.0:1.0	.	563;609	O60299-2;O60299	.;PRIP1_HUMAN	Q	609;563;563	ENSP00000332123:K609Q;ENSP00000353496:K563Q;ENSP00000338166:K563Q	ENSP00000332123:K609Q	K	-	1	0	RP5-1187M17.10	3093297	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.825000	0.86693	2.003000	0.58678	0.454000	0.30748	AAG		0.711	LZTS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077715.2			10	14	0	0	0	1	0	10	14					G	3145297	T	G	3145297	3	3	346	1	0	0	0	0	1	0	0	0	12870	1792	62	5	200	5	ProSAPiP1	20	3145297	Missense_Mutation	SNP	T	TCGA-KK-A8IJ-01A-11D-A34U-08		3145297	59880223	37	17504											
TMPRSS6	164656	broad.mit.edu	37	chr22	37485725	37485725	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agtttgagcatgaggtccttGgggccctgcaggtgccacag	7	9	15	10	0	0	2	0	2	0	0	1	2	1	2	3	4	3	3	3	4	0	2	rs376170157		TCGA-KK-A8IJ-01A-11D-A34U-08	TCGA-KK-A8IJ-11A-11D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78522869-eb0b-4497-b8bf-45437235c7c2	22a01dd4-194d-4931-91a3-cfd5406147df	g.chr22:37485725G>A	ENST00000346753.3	-	7	872	c.756C>T	c.(754-756)ccC>ccT	p.P252P	TMPRSS6_ENST00000406856.1_Silent_p.P243P|TMPRSS6_ENST00000406725.1_Silent_p.P243P|TMPRSS6_ENST00000381792.2_Silent_p.P243P|TMPRSS6_ENST00000442782.2_Silent_p.P252P	NM_153609.2	NP_705837.1	Q8IU80	TMPS6_HUMAN	transmembrane protease, serine 6	252	CUB 1. {ECO:0000255|PROSITE- ProRule:PRU00059}.				angiogenesis (GO:0001525)|extracellular matrix organization (GO:0030198)|fibrinolysis (GO:0042730)|intracellular signal transduction (GO:0035556)|iron ion homeostasis (GO:0055072)|proteolysis (GO:0006508)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)			breast(5)|central_nervous_system(4)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)	40						TGAGGTCCTTGGGGCCCTGCA	0.667													G|||	1	0.000199681	8e-04	0	5008	,	,		15168	0		0	False		,,,				2504	0					ENST00000381792.2																			0				breast(5)|central_nervous_system(4)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)	40						c.(727-729)ccC>ccT		transmembrane protease, serine 6		G		0,4402		0,0,2201	22	23	23		756	2.5	0.6	22		23	1,8599		0,1,4299	no	coding-synonymous	TMPRSS6	NM_153609.2		0,1,6500	AA,AG,GG		0.0116,0.0,0.0077		252/812	37485725	1,13001	2201	4300	6501	SO:0001819	synonymous_variant	164656				angiogenesis|extracellular matrix organization|fibrinolysis|intracellular signal transduction|proteolysis	integral to membrane|intracellular|plasma membrane	serine-type endopeptidase activity	g.chr22:37485725G>A	AY055383	CCDS13941.1, CCDS74856.1, CCDS74857.1	22q13.1	2010-04-13			ENSG00000187045	ENSG00000187045		"Serine peptidases / Transmembrane"	16517	protein-coding gene	gene with protein product		609862					Standard	NM_001289000		Approved	FLJ30744	uc003aqs.1	Q8IU80	OTTHUMG00000150541	ENST00000346753.3:c.756C>T	22.37:g.37485725G>A						TMPRSS6_ENST00000406725.1_Silent_p.P243P|TMPRSS6_ENST00000406856.1_Silent_p.P243P|TMPRSS6_ENST00000346753.3_Silent_p.P252P|TMPRSS6_ENST00000442782.2_Silent_p.P252P	p.P243P			Q8IU80	TMPS6_HUMAN			7	869	-			252			CUB 1.		B0QYB4|B0QYB7|B0QYB8|Q5TI06|Q6ICC2|Q6UXD8|Q8IUE2|Q8IXV8	Silent	SNP	ENST00000346753.3	37	c.729C>T	CCDS13941.1																																																																																				0.667	TMPRSS6-003	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000318822.1	NM_153609		3	10	0	0	0	1	0	3	10					A	37485725	G	A	37485725	2	1	346	1	0	0	0	0	0	0	0	1	16248	1335	47	3		3	TMPRSS6	22	37485725	Silent	SNP	G	TCGA-KK-A8IJ-01A-11D-A34U-08		37485725	13818841	38	17505											
EPHB2	2048	broad.mit.edu	37	chr1	23111211	23111211	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gagagcttctcccaggtggaCctgggtggccgcgtcatgaa	7	8	15	11	2	2	2	1	1	1	1	3	4	2	3	3	4	1	1	3	4	1	1			TCGA-KK-A8IK-01A-11D-A364-08	TCGA-KK-A8IK-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	640ab7e7-1e44-444d-b470-196a000a9958	3a8cd4b7-4379-4fcc-b252-6c053077a0d8	g.chr1:23111211C>T	ENST00000400191.3	+	3	471	c.453C>T	c.(451-453)gaC>gaT	p.D151D	EPHB2_ENST00000374627.1_Silent_p.D145D|EPHB2_ENST00000374630.3_Silent_p.D151D|EPHB2_ENST00000374632.3_Silent_p.D151D|EPHB2_ENST00000544305.1_Silent_p.D151D	NM_004442.6|NM_017449.3	NP_004433.2|NP_059145.2	P29323	EPHB2_HUMAN	EPH receptor B2	151	Eph LBD. {ECO:0000255|PROSITE- ProRule:PRU00883}.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|camera-type eye morphogenesis (GO:0048593)|central nervous system projection neuron axonogenesis (GO:0021952)|commissural neuron axon guidance (GO:0071679)|corpus callosum development (GO:0022038)|dendritic spine development (GO:0060996)|dendritic spine morphogenesis (GO:0060997)|ephrin receptor signaling pathway (GO:0048013)|inner ear morphogenesis (GO:0042472)|learning (GO:0007612)|negative regulation of axonogenesis (GO:0050771)|nervous system development (GO:0007399)|optic nerve morphogenesis (GO:0021631)|palate development (GO:0060021)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|positive regulation of synapse assembly (GO:0051965)|regulation of body fluid levels (GO:0050878)|retinal ganglion cell axon guidance (GO:0031290)|urogenital system development (GO:0001655)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|protein tyrosine kinase activity (GO:0004713)|transmembrane-ephrin receptor activity (GO:0005005)			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(8)|stomach(1)|urinary_tract(1)	56		Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153)		CCCAGGTGGACCTGGGTGGCC	0.597																																						ENST00000400191.3																			0				NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(8)|stomach(1)|urinary_tract(1)	56						c.(451-453)gaC>gaT		EPH receptor B2							42	42	42					1																	23111211		2203	4300	6503	SO:0001819	synonymous_variant	2048				axon guidance	integral to plasma membrane	ATP binding|transmembrane-ephrin receptor activity	g.chr1:23111211C>T	AF025304	CCDS229.2, CCDS230.1	1p36.1-p35	2014-09-17	2004-10-28		ENSG00000133216	ENSG00000133216	2.7.10.1	"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3393	protein-coding gene	gene with protein product		600997	"EphB2"	DRT, ERK, EPHT3		1648701	Standard	NM_017449		Approved	Hek5, Tyro5	uc001bge.3	P29323	OTTHUMG00000002881	ENST00000400191.3:c.453C>T	1.37:g.23111211C>T						EPHB2_ENST00000374627.1_Silent_p.D145D|EPHB2_ENST00000374632.3_Silent_p.D151D|EPHB2_ENST00000374630.3_Silent_p.D151D|EPHB2_ENST00000544305.1_Silent_p.D151D	p.D151D	NM_004442.6|NM_017449.3	NP_004433.2|NP_059145.2	P29323	EPHB2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153)	3	471	+		Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258)	151					O43477|Q5T0U6|Q5T0U7|Q5T0U8	Silent	SNP	ENST00000400191.3	37	c.453C>T																																																																																					0.597	EPHB2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000008060.2	NM_017449		12	11	0	0	0	1	0	12	11					T	23111211	C	T	23111211	2	4	347	1	0	0	0	0	0	0	0	1	5175	506	18	3		3	EPHB2	1	23111211	Silent	SNP	C	TCGA-KK-A8IK-01A-11D-A364-08		23111211	226139410	1	17506											
RPRD2	23248	broad.mit.edu	37	chr1	150444279	150444279	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagcttgtctcaatctaccaCtgggcatctcagtttgccac	8	13	7	13	0	3	0	2	0	3	0	5	0	3	0	2	1	3	3	2	1	3	4			TCGA-KK-A8IK-01A-11D-A364-08	TCGA-KK-A8IK-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	640ab7e7-1e44-444d-b470-196a000a9958	3a8cd4b7-4379-4fcc-b252-6c053077a0d8	g.chr1:150444279C>G	ENST00000369068.4	+	11	2859	c.2855C>G	c.(2854-2856)aCt>aGt	p.T952S	RPRD2_ENST00000539519.1_Intron|RPRD2_ENST00000492220.1_3'UTR|RPRD2_ENST00000401000.4_Missense_Mutation_p.T926S	NM_015203.3	NP_056018.2	Q5VT52	RPRD2_HUMAN	regulation of nuclear pre-mRNA domain containing 2	952						DNA-directed RNA polymerase II, holoenzyme (GO:0016591)				central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						CAATCTACCACTGGGCATCTC	0.527																																						ENST00000401000.4																			0				central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						c.(2776-2778)aCt>aGt		regulation of nuclear pre-mRNA domain containing 2							295	304	301					1																	150444279		2088	4224	6312	SO:0001583	missense	23248						protein binding	g.chr1:150444279C>G	BX641025	CCDS44216.1, CCDS72907.1	1q21.2	2012-02-09	2008-08-15	2008-07-28	ENSG00000163125	ENSG00000163125			29039	protein-coding gene	gene with protein product		614695	"KIAA0460"	KIAA0460		22231121	Standard	XM_005245033		Approved	FLJ32145, HSPC099	uc009wlr.3	Q5VT52	OTTHUMG00000012808	ENST00000369068.4:c.2855C>G	1.37:g.150444279C>G	ENSP00000358064:p.Thr952Ser					RPRD2_ENST00000492220.1_3'UTR|RPRD2_ENST00000539519.1_Intron|RPRD2_ENST00000369068.4_Missense_Mutation_p.T952S	p.T926S			Q5VT52	RPRD2_HUMAN			10	2842	+			952			Ser-rich.		A8K6N8|B3KPT1|B4E2Q6|O75048|Q5VT51|Q5VT53|Q6MZL4|Q86XD2|Q9P0D7	Missense_Mutation	SNP	ENST00000369068.4	37	c.2777C>G	CCDS44216.1	.	.	.	.	.	.	.	.	.	.	C	9.582	1.123953	0.20959	.	.	ENSG00000163125	ENST00000401000;ENST00000369068	T;T	0.43688	0.94;0.94	5.21	5.21	0.72293	.	0.337928	0.28748	N	0.014276	T	0.11410	0.0278	N	0.08118	0	0.80722	D	1	B;B	0.15473	0.008;0.013	B;B	0.19391	0.011;0.025	T	0.06935	-1.0799	10	0.39692	T	0.17	-2.2775	8.4329	0.32769	0.0:0.7548:0.1585:0.0868	.	952;926	Q5VT52;Q5VT52-3	RPRD2_HUMAN;.	S	926;952	ENSP00000383785:T926S;ENSP00000358064:T952S	ENSP00000358064:T952S	T	+	2	0	RPRD2	148710903	0.927000	0.31430	1.000000	0.80357	0.996000	0.88848	1.493000	0.35605	2.699000	0.92147	0.650000	0.86243	ACT		0.527	RPRD2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000035844.1	NM_015203		128	134	0	0	0	1	0	128	134					G	150444279	C	G	150444279	3	3	347	1	0	0	0	0	1	0	0	0	13617	565	20	5	2897	5	RPRD2	1	150444279	Missense_Mutation	SNP	C	TCGA-KK-A8IK-01A-11D-A364-08	127333068	150444279	98806342	2	17507											
KIF26B	55083	broad.mit.edu	37	chr1	245862232	245862232	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgaagattctggaacaccGccagcagaggatcgccgagg	11	5	14	11	3	1	3	0	1	1	2	2	6	1	5	3	3	2	2	3	3	2	1	rs199933797		TCGA-KK-A8IK-01A-11D-A364-08	TCGA-KK-A8IK-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	640ab7e7-1e44-444d-b470-196a000a9958	3a8cd4b7-4379-4fcc-b252-6c053077a0d8	g.chr1:245862232G>A	ENST00000407071.2	+	14	6511	c.6071G>A	c.(6070-6072)cGc>cAc	p.R2024H	KIF26B_ENST00000366518.4_Missense_Mutation_p.R1643H	NM_018012.3	NP_060482.2	Q2KJY2	KI26B_HUMAN	kinesin family member 26B	2024					establishment of cell polarity (GO:0030010)|metabolic process (GO:0008152)|positive regulation of cell-cell adhesion (GO:0022409)|ureteric bud invasion (GO:0072092)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)	p.R2024H(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		OV - Ovarian serous cystadenocarcinoma(106;0.022)			CTGGAACACCGCCAGCAGAGG	0.572													G|||	1	0.000199681	0	0	5008	,	,		19181	0		0.001	False		,,,				2504	0					ENST00000366518.4																			1	Substitution - Missense(1)	p.R2024H(1)	ovary(1)	breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51						c.(4927-4929)cGc>cAc		kinesin family member 26B							73	78	76					1																	245862232		2085	4213	6298	SO:0001583	missense	55083				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr1:245862232G>A	AK001019	CCDS44342.1	1q44	2008-02-05			ENSG00000162849	ENSG00000162849		"Kinesins"	25484	protein-coding gene	gene with protein product		614026					Standard	NM_018012		Approved	FLJ10157	uc001ibf.1	Q2KJY2	OTTHUMG00000040079	ENST00000407071.2:c.6071G>A	1.37:g.245862232G>A	ENSP00000385545:p.Arg2024His					KIF26B_ENST00000407071.2_Missense_Mutation_p.R2024H	p.R1643H			Q2KJY2	KI26B_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.022)		11	5032	+	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		2024					Q6ZQR9|Q6ZUZ0|Q8IUN3|Q8IVR1|Q9NWB4	Missense_Mutation	SNP	ENST00000407071.2	37	c.4928G>A	CCDS44342.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	21.7	4.184039	0.78677	.	.	ENSG00000162849	ENST00000407071;ENST00000366518;ENST00000413001	D;D	0.87103	-2.21;-2.2	5.82	5.82	0.92795	.	.	.	.	.	D	0.93462	0.7914	M	0.73217	2.22	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.93435	0.6789	9	0.87932	D	0	.	20.099	0.97865	0.0:0.0:1.0:0.0	.	2024	Q2KJY2	KI26B_HUMAN	H	2024;1643;1640	ENSP00000385545:R2024H;ENSP00000355475:R1643H	ENSP00000355475:R1643H	R	+	2	0	KIF26B	243928855	1.000000	0.71417	1.000000	0.80357	0.642000	0.38348	8.033000	0.88852	2.752000	0.94435	0.655000	0.94253	CGC		0.572	KIF26B-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381037.1	XM_371354		27	20	0	0	0	1	0	27	20					A	245862232	G	A	245862232	3	1	347	1	0	0	0	0	1	0	0	0	8295	1087	38	1	6125	1	KIF26B	1	245862232	Missense_Mutation	SNP	G	TCGA-KK-A8IK-01A-11D-A364-08	95417953	245862232	3388389	3	17508											
TMEM182	130827	broad.mit.edu	37	chr2	103431323	103431323	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tggatttcaccccttctgttCtgtatggctggtcatttttc	4	19	8	10	0	4	0	2	0	2	0	5	1	4	1	2	3	0	3	2	3	1	6			TCGA-KK-A8IK-01A-11D-A364-08	TCGA-KK-A8IK-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	640ab7e7-1e44-444d-b470-196a000a9958	3a8cd4b7-4379-4fcc-b252-6c053077a0d8	g.chr2:103431323C>T	ENST00000412401.2	+	5	791	c.586C>T	c.(586-588)Ctg>Ttg	p.L196L	TMEM182_ENST00000409528.1_Silent_p.L100L|TMEM182_ENST00000486293.1_Intron|TMEM182_ENST00000409173.1_Silent_p.L153L	NM_144632.3	NP_653233.3	Q6ZP80	TM182_HUMAN	transmembrane protein 182	196						integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)	11						CCCTTCTGTTCTGTATGGCTG	0.458																																						ENST00000412401.2																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)	11						c.(586-588)Ctg>Ttg		transmembrane protein 182							117	102	107					2																	103431323		2203	4300	6503	SO:0001819	synonymous_variant	130827					integral to membrane		g.chr2:103431323C>T	AK054856	CCDS2064.1	2q12.1	2009-08-25			ENSG00000170417	ENSG00000170417			26391	protein-coding gene	gene with protein product						12477932	Standard	NM_144632		Approved	FLJ30294	uc010fjb.3	Q6ZP80	OTTHUMG00000130779	ENST00000412401.2:c.586C>T	2.37:g.103431323C>T						TMEM182_ENST00000409173.1_Silent_p.L153L|TMEM182_ENST00000409528.1_Silent_p.L100L|TMEM182_ENST00000486293.1_Intron	p.L196L	NM_144632.3	NP_653233.3	Q6ZP80	TM182_HUMAN			5	791	+			196					C9JML7|Q3B7B8|Q53TT9|Q6GMU0|Q8WW45|Q96NR4	Silent	SNP	ENST00000412401.2	37	c.586C>T	CCDS2064.1																																																																																				0.458	TMEM182-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253293.1	NM_144632		16	14	0	0	0	1	0	16	14					T	103431323	C	T	103431323	2	4	347	1	0	0	0	0	0	0	0	1	16098	912	32	3		3	TMEM182	2	103431323	Silent	SNP	C	TCGA-KK-A8IK-01A-11D-A364-08		103431323	139768050	4	17509											
ZIC1	7545	broad.mit.edu	37	chr3	147128057	147128057	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttcaagctcaaccccagttCgcacgagctggcttcggccg	7	8	10	16	4	2	0	2	0	0	0	4	1	2	0	3	2	3	5	3	2	2	3			TCGA-KK-A8IK-01A-11D-A364-08	TCGA-KK-A8IK-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	640ab7e7-1e44-444d-b470-196a000a9958	3a8cd4b7-4379-4fcc-b252-6c053077a0d8	g.chr3:147128057C>A	ENST00000282928.4	+	1	887	c.158C>A	c.(157-159)tCg>tAg	p.S53*		NM_003412.3	NP_003403.2	Q15915	ZIC1_HUMAN	Zic family member 1	53					adult walking behavior (GO:0007628)|brain development (GO:0007420)|cell differentiation (GO:0030154)|inner ear morphogenesis (GO:0042472)|pattern specification process (GO:0007389)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of smoothened signaling pathway (GO:0008589)|spinal cord development (GO:0021510)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.S53L(1)		central_nervous_system(4)|cervix(1)|endometrium(2)|large_intestine(8)|lung(38)|ovary(1)|prostate(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	63						AACCCCAGTTCGCACGAGCTG	0.716																																						ENST00000282928.4																			1	Substitution - Missense(1)	p.S53L(1)	large_intestine(1)	central_nervous_system(4)|cervix(1)|endometrium(2)|large_intestine(8)|lung(38)|ovary(1)|prostate(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	63						c.(157-159)tCg>tAg		Zic family member 1							29	32	31					3																	147128057		2199	4293	6492	SO:0001587	stop_gained	7545				behavior|brain development|cell differentiation|inner ear morphogenesis|pattern specification process|positive regulation of protein import into nucleus|positive regulation of transcription, DNA-dependent|regulation of smoothened signaling pathway	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr3:147128057C>A	D76435	CCDS3136.1	3q24	2013-01-08	2011-05-19		ENSG00000152977	ENSG00000152977		"Zinc fingers, C2H2-type"	12872	protein-coding gene	gene with protein product		600470	"Zic family member 1 (odd-paired Drosophila homolog)", "Zic family member 1 (odd-paired homolog, Drosophila)"			8542595	Standard	NM_003412		Approved	ZIC, ZNF201	uc003ewe.3	Q15915	OTTHUMG00000159456	ENST00000282928.4:c.158C>A	3.37:g.147128057C>A	ENSP00000282928:p.Ser53*						p.S53*	NM_003412.3	NP_003403.2	Q15915	ZIC1_HUMAN			1	887	+			53					Q2M3N1	Nonsense_Mutation	SNP	ENST00000282928.4	37	c.158C>A	CCDS3136.1	.	.	.	.	.	.	.	.	.	.	C	40	8.500878	0.98838	.	.	ENSG00000152977	ENST00000282928	.	.	.	4.04	3.15	0.36227	.	0.379360	0.27227	N	0.020333	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	8.1198	0.30965	0.0:0.5613:0.3419:0.0968	.	.	.	.	X	53	.	ENSP00000282928:S53X	S	+	2	0	ZIC1	148610747	0.979000	0.34478	1.000000	0.80357	0.808000	0.45660	2.338000	0.43957	1.806000	0.52798	0.442000	0.29010	TCG		0.716	ZIC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355497.1	NM_003412		18	56	1	0	4.35082e-09	1	4.83424e-09	18	56					A	147128057	C	A	147128057	4	1	347	1	0	0	0	0	0	1	0	0	17675	893	31	5	160	5	ZIC1	3	147128057	Nonsense_Mutation	SNP	C	TCGA-KK-A8IK-01A-11D-A364-08		147128057	50894373	5	17510											
CPLX1	10815	broad.mit.edu	37	chr4	786237	786237	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaccttgtctcggatgcccTggcgcacggcctcgcgctcc	3	8	12	18	5	1	0	0	0	1	0	4	1	2	1	4	3	1	3	4	3	0	1			TCGA-KK-A8IK-01A-11D-A364-08	TCGA-KK-A8IK-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	640ab7e7-1e44-444d-b470-196a000a9958	3a8cd4b7-4379-4fcc-b252-6c053077a0d8	g.chr4:786237T>G	ENST00000304062.6	-	3	422	c.191A>C	c.(190-192)cAg>cCg	p.Q64P	CPLX1_ENST00000505203.1_Splice_Site	NM_006651.3	NP_006642.1	O14810	CPLX1_HUMAN	complexin 1	64	Interaction with the SNARE complex. {ECO:0000250}.				exocytosis (GO:0006887)|glutamate secretion (GO:0014047)|insulin secretion (GO:0030073)|neurotransmitter secretion (GO:0007269)|regulation of exocytosis (GO:0017157)|synaptic transmission (GO:0007268)|synaptic vesicle exocytosis (GO:0016079)	cytosol (GO:0005829)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)|synapse (GO:0045202)|synaptobrevin 2-SNAP-25-syntaxin-1a-complexin I complex (GO:0070032)|synaptobrevin 2-SNAP-25-syntaxin-3-complexin complex (GO:0070554)	neurotransmitter transporter activity (GO:0005326)			kidney(1)|lung(2)	3				Colorectal(103;0.187)		TCGGATGCCCTGGCGCACGGC	0.741																																						ENST00000304062.6																			0				kidney(1)|lung(2)	3						c.(190-192)cAg>cCg		complexin 1							15	18	17					4																	786237		2167	4248	6415	SO:0001583	missense	10815				glutamate secretion	cytosol		g.chr4:786237T>G	AF022383	CCDS46995.1	4p16.3	2008-08-07			ENSG00000168993	ENSG00000168993			2309	protein-coding gene	gene with protein product		605032				7553862	Standard	NM_006651		Approved	CPX-I	uc003gbi.3	O14810	OTTHUMG00000160005	ENST00000304062.6:c.191A>C	4.37:g.786237T>G	ENSP00000305613:p.Gln64Pro					CPLX1_ENST00000505203.1_Splice_Site	p.Q64P	NM_006651.3	NP_006642.1	O14810	CPLX1_HUMAN		Colorectal(103;0.187)	3	422	-			64			Interaction with the SNARE complex (By similarity).		A6NI80|B2R4R5|D3DVN3|F1T0G1	Missense_Mutation	SNP	ENST00000304062.6	37	c.191A>C	CCDS46995.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	t|t	16.02|16.02	3.002824|3.002824	0.54254|0.54254	.|.	.|.	ENSG00000168993|ENSG00000168993	ENST00000505203|ENST00000304062;ENST00000504062;ENST00000513195	.|.	.|.	.|.	3.47|3.47	3.47|3.47	0.39725|0.39725	.|.	.|.	.|.	.|.	.|.	.|T	.|0.79627	.|0.4478	M|M	0.88241|0.88241	2.94|2.94	0.80722|0.80722	D|D	1|1	.|P	.|0.48407	.|0.91	.|D	.|0.67900	.|0.954	.|T	.|0.82390	.|-0.0481	.|8	.|0.87932	.|D	.|0	.|.	10.2815|10.2815	0.43543|0.43543	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|64	.|O14810	.|CPLX1_HUMAN	.|P	-1|64;49;147	.|.	.|ENSP00000305613:Q64P	.|Q	-|-	.|2	.|0	CPLX1|CPLX1	776237|776237	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.694000|0.694000	0.40290|0.40290	5.424000|5.424000	0.66464|0.66464	1.596000|1.596000	0.50062|0.50062	0.381000|0.381000	0.24937|0.24937	.|CAG		0.741	CPLX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358830.1			4	7	0	0	0	1	0	4	7					G	786237	T	G	786237	3	3	347	1	0	0	0	0	1	0	0	0	3804	1580	55	5	221	5	CPLX1	4	786237	Missense_Mutation	SNP	T	TCGA-KK-A8IK-01A-11D-A364-08		786237	190368039	6	17511											
AFAP1	60312	broad.mit.edu	37	chr4	7802211	7802211	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccgttgcgcagcagccggaaCgtcagaggatgtttagaatc	10	8	13	10	4	1	2	1	0	0	2	2	4	1	4	2	2	4	4	2	2	3	3	rs557744197		TCGA-KK-A8IK-01A-11D-A364-08	TCGA-KK-A8IK-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	640ab7e7-1e44-444d-b470-196a000a9958	3a8cd4b7-4379-4fcc-b252-6c053077a0d8	g.chr4:7802211C>T	ENST00000360265.4	-	9	1458	c.1224G>A	c.(1222-1224)acG>acA	p.T408T	AFAP1_ENST00000382543.3_Silent_p.T408T|AFAP1_ENST00000513842.1_5'Flank|AFAP1_ENST00000358461.2_Silent_p.T408T|AFAP1_ENST00000420658.1_Silent_p.T408T			Q8N556	AFAP1_HUMAN	actin filament associated protein 1	408	PH 2. {ECO:0000255|PROSITE- ProRule:PRU00145}.					cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(4)|stomach(2)	32						GCAGCCGGAACGTCAGAGGAT	0.547																																						ENST00000420658.1																			0				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(4)|stomach(2)	32						c.(1222-1224)acG>acA		actin filament associated protein 1							101	90	94					4																	7802211		2203	4300	6503	SO:0001819	synonymous_variant	60312					actin cytoskeleton|cytoplasm|focal adhesion	actin binding	g.chr4:7802211C>T	AB209676	CCDS3397.1, CCDS47010.1	4p16	2014-02-12	2007-02-07		ENSG00000196526	ENSG00000196526		"Pleckstrin homology (PH) domain containing"	24017	protein-coding gene	gene with protein product		608252				14755689, 11641786, 11607843	Standard	NM_198595		Approved	AFAP-110, AFAP	uc011bwk.1	Q8N556	OTTHUMG00000125515	ENST00000360265.4:c.1224G>A	4.37:g.7802211C>T						AFAP1_ENST00000358461.2_Silent_p.T408T|AFAP1_ENST00000360265.4_Silent_p.T408T|AFAP1_ENST00000382543.3_Silent_p.T408T	p.T408T	NM_001134647.1	NP_001128119.1	Q8N556	AFAP1_HUMAN			10	1496	-			408			PH 2.		A8K442|B4DMU2|E9PDT7|Q59EY5|Q9HBY1	Silent	SNP	ENST00000360265.4	37	c.1224G>A	CCDS3397.1																																																																																				0.547	AFAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246842.2	NM_021638		6	24	0	0	0	1	0	6	24					T	7802211	C	T	7802211	2	4	347	1	0	0	0	0	0	0	0	1	353	523	19	1		1	AFAP1	4	7802211	Silent	SNP	C	TCGA-KK-A8IK-01A-11D-A364-08	7015974	7802211	183352065	7	17512											
GPR125	166647	broad.mit.edu	37	chr4	22389479	22389479	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tttgctgattttcaagttcaAccacagctggcttccttaac	9	15	6	11	0	2	1	2	1	0	0	3	1	3	1	2	1	4	4	2	1	3	6			TCGA-KK-A8IK-01A-11D-A364-08	TCGA-KK-A8IK-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	640ab7e7-1e44-444d-b470-196a000a9958	3a8cd4b7-4379-4fcc-b252-6c053077a0d8	g.chr4:22389479A>G	ENST00000334304.5	-	19	4084	c.3815T>C	c.(3814-3816)gTt>gCt	p.V1272A	GPR125_ENST00000282943.5_5'UTR	NM_145290.3	NP_660333.2	Q8IWK6	GP125_HUMAN	G protein-coupled receptor 125	1272					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)	G-protein coupled receptor activity (GO:0004930)			breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(33)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	56		Breast(46;0.198)				TTCAAGTTCAACCACAGCTGG	0.438																																						ENST00000334304.5																			0				breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(33)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	56						c.(3814-3816)gTt>gCt		G protein-coupled receptor 125							98	96	97					4																	22389479		2203	4300	6503	SO:0001583	missense	166647				neuropeptide signaling pathway	integral to membrane	G-protein coupled receptor activity	g.chr4:22389479A>G	AK095866	CCDS33964.1	4p15.31	2014-08-08			ENSG00000152990	ENSG00000152990		"-", "GPCR / Class B : Orphans", "Immunoglobulin superfamily / I-set domain containing"	13839	protein-coding gene	gene with protein product		612303				12565841	Standard	NM_145290		Approved	FLJ38547, PGR21	uc003gqm.2	Q8IWK6	OTTHUMG00000160926	ENST00000334304.5:c.3815T>C	4.37:g.22389479A>G	ENSP00000334952:p.Val1272Ala					GPR125_ENST00000282943.5_5'UTR	p.V1272A	NM_145290.2	NP_660333.2	Q8IWK6	GP125_HUMAN			19	4084	-		Breast(46;0.198)	1272					Q6UXK9|Q86SQ5|Q8TC55	Missense_Mutation	SNP	ENST00000334304.5	37	c.3815T>C	CCDS33964.1	.	.	.	.	.	.	.	.	.	.	A	8.424	0.846971	0.17034	.	.	ENSG00000152990	ENST00000334304	T	0.51817	0.69	6.17	-0.446	0.12238	.	0.609665	0.17896	N	0.158370	T	0.28234	0.0697	L	0.36672	1.1	0.18873	N	0.999988	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.12319	-1.0552	10	0.22109	T	0.4	-9.2449	3.0639	0.06209	0.4814:0.1071:0.3081:0.1035	.	1129;1272	Q8IWK6-3;Q8IWK6	.;GP125_HUMAN	A	1272	ENSP00000334952:V1272A	ENSP00000334952:V1272A	V	-	2	0	GPR125	21998577	0.341000	0.24801	0.001000	0.08648	0.880000	0.50808	1.786000	0.38694	-0.251000	0.09542	-0.290000	0.09829	GTT		0.438	GPR125-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362960.3			14	21	0	0	0	1	0	14	21					G	22389479	A	G	22389479	3	3	347	1	0	0	0	0	1	0	0	0	6639	43	2	4	154	4	GPR125	4	22389479	Missense_Mutation	SNP	A	TCGA-KK-A8IK-01A-11D-A364-08	14587268	22389479	168764797	8	17513											
PLEKHG4B	153478	broad.mit.edu	37	chr5	162060	162060	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cgtccgagttgtgcgagacgGtaagagacccagtgggcgtg	8	7	17	9	5	0	2	0	0	0	2	1	5	1	2	2	2	1	2	2	2	1	2	rs200291680		TCGA-KK-A8IK-01A-11D-A364-08	TCGA-KK-A8IK-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	640ab7e7-1e44-444d-b470-196a000a9958	3a8cd4b7-4379-4fcc-b252-6c053077a0d8	g.chr5:162060G>A	ENST00000283426.6	+	10	1631		c.e10+1			NM_052909.3	NP_443141.3	Q96PX9	PKH4B_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 4B								Rho guanyl-nucleotide exchange factor activity (GO:0005089)			endometrium(1)|large_intestine(2)|lung(2)|prostate(3)|skin(3)	11			all cancers(22;0.0253)|Lung(60;0.113)	Kidney(1;0.119)		GTGCGAGACGGTAAGAGACCC	0.652																																						ENST00000283426.6																			0				endometrium(1)|large_intestine(2)|lung(2)|prostate(3)|skin(3)	11						c.e10+1		pleckstrin homology domain containing, family G (with RhoGef domain) member 4B							57	47	50					5																	162060		2203	4300	6503	SO:0001630	splice_region_variant	153478				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	g.chr5:162060G>A	BC008352	CCDS34124.1	5p15.33	2013-01-11			ENSG00000153404	ENSG00000153404		"Pleckstrin homology (PH) domain containing"	29399	protein-coding gene	gene with protein product						11572484	Standard	NM_052909		Approved	KIAA1909	uc003jak.2	Q96PX9	OTTHUMG00000161570	ENST00000283426.6:c.1581+1G>A	5.37:g.162060G>A								NM_052909.3	NP_443141.3	Q96PX9	PKH4B_HUMAN	all cancers(22;0.0253)|Lung(60;0.113)	Kidney(1;0.119)	10	1631	+									Splice_Site	SNP	ENST00000283426.6	37		CCDS34124.1	.	.	.	.	.	.	.	.	.	.	G	12.50	1.956447	0.34565	.	.	ENSG00000153404	ENST00000283426	.	.	.	2.59	2.59	0.31030	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.9359	0.35700	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PLEKHG4B	215060	1.000000	0.71417	0.004000	0.12327	0.284000	0.27059	3.627000	0.54252	1.176000	0.42840	0.460000	0.39030	.		0.652	PLEKHG4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365359.1	NM_052909	Intron	3	36	0	0	0	1	0	3	36					A	162060	G	A	162060	5	1	347	1	0	0	0	0	0	0	1	0	12072	1275	44	3	1620	3	PLEKHG4B	5	162060	Splice_Site	SNP	G	TCGA-KK-A8IK-01A-11D-A364-08		162060	180753200	9	17514											
C6orf167	253714	broad.mit.edu	37	chr6	97616033	97616033	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgtaatactgcatgtggcaGcagtaaacaatctatgatcc	13	11	8	9	0	1	1	0	1	1	0	2	1	2	1	1	1	4	5	1	1	6	4			TCGA-KK-A8IK-01A-11D-A364-08	TCGA-KK-A8IK-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	640ab7e7-1e44-444d-b470-196a000a9958	3a8cd4b7-4379-4fcc-b252-6c053077a0d8	g.chr6:97616033G>A	ENST00000275053.4	-	20	3188	c.2923C>T	c.(2923-2925)Ctg>Ttg	p.L975L	MMS22L_ENST00000369251.2_Silent_p.L935L	NM_198468.2	NP_940870.2	Q6ZRQ5	MMS22_HUMAN	MMS22-like, DNA repair protein	975					double-strand break repair via homologous recombination (GO:0000724)|replication fork processing (GO:0031297)	nuclear replication fork (GO:0043596)				breast(1)|endometrium(9)|kidney(2)|large_intestine(12)|lung(20)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	50						GCATGTGGCAGCAGTAAACAA	0.398																																						ENST00000275053.4																			0				breast(1)|endometrium(9)|kidney(2)|large_intestine(12)|lung(20)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	50						c.(2923-2925)Ctg>Ttg		MMS22-like, DNA repair protein							157	155	155					6																	97616033		2203	4300	6503	SO:0001819	synonymous_variant	253714				double-strand break repair via homologous recombination|replication fork processing	nuclear replication fork	protein binding	g.chr6:97616033G>A		CCDS5039.1	6q16.3	2010-11-11	2010-11-11	2010-11-11	ENSG00000146263	ENSG00000146263			21475	protein-coding gene	gene with protein product		615614	"chromosome 6 open reading frame 167"	C6orf167		21055983, 21055984	Standard	NM_198468		Approved	dJ39B17.2	uc003ppb.3	Q6ZRQ5	OTTHUMG00000015248	ENST00000275053.4:c.2923C>T	6.37:g.97616033G>A						MMS22L_ENST00000369251.2_Silent_p.L935L	p.L975L	NM_198468.2	NP_940870.2	Q6ZRQ5	MMS22_HUMAN			20	3188	-			975					D6R9Y8|D6RBQ4|E1P529|Q5THT2|Q68CQ6|Q68D32	Silent	SNP	ENST00000275053.4	37	c.2923C>T	CCDS5039.1																																																																																				0.398	MMS22L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041573.3	NM_198468		3	42	0	0	0	1	0	3	42					A	97616033	G	A	97616033	2	1	347	1	0	0	0	0	0	0	0	1	2342	962	34	3		3	C6orf167	6	97616033	Silent	SNP	G	TCGA-KK-A8IK-01A-11D-A364-08		97616033	73499034	10	17515											
PDE10A	10846	broad.mit.edu	37	chr6	165829699	165829699	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gttaaagcgtgggtctgcatAggcatctggaatgttcagga	10	11	14	6	1	3	0	1	0	2	0	3	2	3	2	0	4	2	4	0	4	4	3			TCGA-KK-A8IK-01A-11D-A364-08	TCGA-KK-A8IK-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	640ab7e7-1e44-444d-b470-196a000a9958	3a8cd4b7-4379-4fcc-b252-6c053077a0d8	g.chr6:165829699A>T	ENST00000366882.1	-	13	1193	c.1039T>A	c.(1039-1041)Tat>Aat	p.Y347N	PDE10A_ENST00000354448.4_Missense_Mutation_p.Y347N|PDE10A_ENST00000539869.2_Missense_Mutation_p.Y357N			Q9Y233	PDE10_HUMAN	phosphodiesterase 10A	347	GAF 2.				blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cGMP catabolic process (GO:0046069)|regulation of cAMP-mediated signaling (GO:0043949)|regulation of protein kinase A signaling (GO:0010738)|signal transduction (GO:0007165)	cytosol (GO:0005829)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity (GO:0004118)|metal ion binding (GO:0046872)			breast(4)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(39)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	71		Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221)		OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05)	Caffeine(DB00201)|Dipyridamole(DB00975)|Papaverine(DB01113)|Tofisopam(DB08811)|Triflusal(DB08814)	GGGTCTGCATAGGCATCTGGA	0.448																																					Esophageal Squamous(22;308 615 5753 12038 40624)	ENST00000366882.1																			0				breast(4)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(39)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	71						c.(1039-1041)Tat>Aat		phosphodiesterase 10A	Dipyridamole(DB00975)						268	237	248					6																	165829699		2203	4300	6503	SO:0001583	missense	10846				platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cAMP binding|cGMP binding|metal ion binding	g.chr6:165829699A>T	AB020593	CCDS47513.1	6q26	2008-03-18			ENSG00000112541	ENSG00000112541	3.1.4.17	"Phosphodiesterases"	8772	protein-coding gene	gene with protein product		610652				10373451	Standard	NM_001130690		Approved		uc003quo.3	Q9Y233	OTTHUMG00000015986	ENST00000366882.1:c.1039T>A	6.37:g.165829699A>T	ENSP00000355847:p.Tyr347Asn					PDE10A_ENST00000539869.2_Missense_Mutation_p.Y357N|PDE10A_ENST00000354448.4_Missense_Mutation_p.Y347N	p.Y347N			Q9Y233	PDE10_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05)	13	1193	-		Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221)	347			GAF 2.		Q6FHX1|Q9HCP9|Q9NTV4|Q9ULW9|Q9Y5T1	Missense_Mutation	SNP	ENST00000366882.1	37	c.1039T>A		.	.	.	.	.	.	.	.	.	.	A	22.1	4.243833	0.79912	.	.	ENSG00000112541	ENST00000366882;ENST00000539869;ENST00000343842;ENST00000354448;ENST00000392126	T;T	0.67523	-0.27;-0.27	5.2	5.2	0.72013	GAF (2);	0.000000	0.85682	D	0.000000	D	0.83234	0.5210	M	0.93939	3.475	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.91635	0.998;0.999	D	0.86957	0.2089	10	0.51188	T	0.08	.	15.0842	0.72138	1.0:0.0:0.0:0.0	.	357;347	Q9ULW9;Q9Y233	.;PDE10_HUMAN	N	347;375;357;347;346	ENSP00000355847:Y347N;ENSP00000346435:Y347N	ENSP00000341187:Y357N	Y	-	1	0	PDE10A	165749689	1.000000	0.71417	0.998000	0.56505	0.740000	0.42216	8.999000	0.93557	1.968000	0.57251	0.459000	0.35465	TAT		0.448	PDE10A-001	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000043031.1			48	66	0	0	0	1	0	48	66					T	165829699	A	T	165829699	3	4	347	1	0	0	0	0	1	0	0	0	11630	420	15	5	1344	5	PDE10A	6	165829699	Missense_Mutation	SNP	A	TCGA-KK-A8IK-01A-11D-A364-08	68213666	165829699	5285368	11	17516											
ABCA13	154664	broad.mit.edu	37	chr7	48318265	48318265	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caagtgaagaaagtcacgtcCtgaaacccctcttagaaatg	15	8	8	10	1	2	4	1	2	1	2	3	4	3	4	3	0	1	0	3	0	6	1			TCGA-KK-A8IK-01A-11D-A364-08	TCGA-KK-A8IK-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	640ab7e7-1e44-444d-b470-196a000a9958	3a8cd4b7-4379-4fcc-b252-6c053077a0d8	g.chr7:48318265C>T	ENST00000435803.1	+	18	7498	c.7474C>T	c.(7474-7476)Ctg>Ttg	p.L2492L		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	2492					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						AAGTCACGTCCTGAAACCCCT	0.398																																						ENST00000435803.1																			0				breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						c.(7474-7476)Ctg>Ttg		ATP-binding cassette, sub-family A (ABC1), member 13							176	176	176					7																	48318265		1842	4089	5931	SO:0001819	synonymous_variant	154664				transport	integral to membrane	ATP binding|ATPase activity	g.chr7:48318265C>T	AY204751	CCDS47584.1	7p12.3	2012-03-14			ENSG00000179869	ENSG00000179869		"ATP binding cassette transporters / subfamily A"	14638	protein-coding gene	gene with protein product		607807				12697998	Standard	NM_152701		Approved	FLJ33876, FLJ33951	uc003toq.2	Q86UQ4	OTTHUMG00000155840	ENST00000435803.1:c.7474C>T	7.37:g.48318265C>T							p.L2492L	NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN			18	7498	+			2492					K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Silent	SNP	ENST00000435803.1	37	c.7474C>T	CCDS47584.1																																																																																				0.398	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341964.2	NM_152701		6	205	0	0	0	1	0	6	205					T	48318265	C	T	48318265	2	4	347	1	0	0	0	0	0	0	0	1	31	680	24	3		3	ABCA13	7	48318265	Silent	SNP	C	TCGA-KK-A8IK-01A-11D-A364-08		48318265	110820398	12	17517											
ACHE	43	broad.mit.edu	37	chr7	100488845	100488845	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagaaggcgcaggcctgggcGcgcagcccccgccgcacctc	6	2	14	19	5	0	1	0	0	0	1	1	1	0	1	5	3	1	3	5	3	1	0			TCGA-KK-A8IK-01A-11D-A364-08	TCGA-KK-A8IK-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	640ab7e7-1e44-444d-b470-196a000a9958	3a8cd4b7-4379-4fcc-b252-6c053077a0d8	g.chr7:100488845G>A	ENST00000412389.1	-	3	1823	c.1668C>T	c.(1666-1668)cgC>cgT	p.R556R	ACHE_ENST00000411582.1_Silent_p.R556R|ACHE_ENST00000302913.4_Silent_p.R556R|ACHE_ENST00000419336.2_Silent_p.R468R|ACHE_ENST00000241069.5_Silent_p.R556R|ACHE_ENST00000428317.1_Silent_p.R556R|UFSP1_ENST00000388761.2_5'Flank			P22303	ACES_HUMAN	acetylcholinesterase (Yt blood group)	556					acetylcholine catabolic process (GO:0006581)|acetylcholine catabolic process in synaptic cleft (GO:0001507)|amyloid precursor protein metabolic process (GO:0042982)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|choline metabolic process (GO:0019695)|DNA replication (GO:0006260)|glycerophospholipid biosynthetic process (GO:0046474)|muscle organ development (GO:0007517)|negative regulation of synaptic transmission, cholinergic (GO:0032223)|nervous system development (GO:0007399)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter receptor biosynthetic process (GO:0045212)|osteoblast development (GO:0002076)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|positive regulation of protein secretion (GO:0050714)|protein tetramerization (GO:0051262)|receptor internalization (GO:0031623)|regulation of axonogenesis (GO:0050770)|regulation of dendrite morphogenesis (GO:0048814)|regulation of receptor recycling (GO:0001919)|response to wounding (GO:0009611)|retina development in camera-type eye (GO:0060041)|small molecule metabolic process (GO:0044281)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic transmission, cholinergic (GO:0007271)	anchored component of membrane (GO:0031225)|axon (GO:0030424)|basal lamina (GO:0005605)|cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|synapse (GO:0045202)	acetylcholine binding (GO:0042166)|acetylcholinesterase activity (GO:0003990)|beta-amyloid binding (GO:0001540)|cholinesterase activity (GO:0004104)|collagen binding (GO:0005518)|hydrolase activity (GO:0016787)|laminin binding (GO:0043236)|protein homodimerization activity (GO:0042803)|serine hydrolase activity (GO:0017171)			large_intestine(3)|lung(7)|skin(3)|urinary_tract(3)	16	Lung NSC(181;0.041)|all_lung(186;0.0581)				Ambenonium(DB01122)|Choline(DB00122)|Decamethonium(DB01245)|Demecarium(DB00944)|Dipivefrin(DB00449)|Donepezil(DB00843)|Edrophonium(DB01010)|Ephedrine(DB01364)|Galantamine(DB00674)|Gallamine Triethiodide(DB00483)|Isoflurophate(DB00677)|Mefloquine(DB00358)|Minaprine(DB00805)|Neostigmine(DB01400)|Physostigmine(DB00981)|Pralidoxime(DB00733)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Tubocurarine(DB01199)	AGGCCTGGGCGCGCAGCCCCC	0.716																																						ENST00000302913.4																			0				large_intestine(3)|lung(7)|skin(3)|urinary_tract(3)	16						c.(1666-1668)cgC>cgT		acetylcholinesterase	Ambenonium(DB01122)|Atropine(DB00572)|Choline(DB00122)|Decamethonium(DB01245)|Demecarium bromide(DB00944)|Donepezil(DB00843)|Edrophonium(DB01010)|Ephedrine(DB01364)|Galantamine(DB00674)|Gallamine Triethiodide(DB00483)|Isoflurophate(DB00677)|Neostigmine(DB01400)|Physostigmine(DB00981)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Tacrine(DB00382)|Tubocurarine(DB01199)						10	12	12					7																	100488845		2129	4196	6325	SO:0001819	synonymous_variant	43				acetylcholine catabolic process in synaptic cleft|amyloid precursor protein metabolic process|cell adhesion|cell proliferation|choline metabolic process|DNA replication|muscle organ development|neurotransmitter biosynthetic process|osteoblast development|positive regulation of protein secretion|regulation of axonogenesis|regulation of dendrite morphogenesis|response to wounding|synapse assembly	anchored to membrane|axon|basal lamina|cell junction|cell surface|dendrite|endoplasmic reticulum lumen|extracellular space|Golgi apparatus|neuromuscular junction|nucleus|perinuclear region of cytoplasm|postsynaptic membrane|presynaptic membrane|synaptic cleft	acetylcholine binding|acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|collagen binding|laminin-1 binding|protein homodimerization activity|serine hydrolase activity	g.chr7:100488845G>A		CCDS5709.1, CCDS5710.1, CCDS64736.1	7q22	2014-07-19	2014-01-02		ENSG00000087085	ENSG00000087085	3.1.1.7	"Blood group antigens"	108	protein-coding gene	gene with protein product	"Yt blood group"	100740	"acetylcholinesterase (YT blood group)", "acetylcholinesterase (Yt blood group)", "acetylcholinesterase"	YT		1380483	Standard	XM_005250357		Approved		uc003uxe.3	P22303	OTTHUMG00000157033	ENST00000412389.1:c.1668C>T	7.37:g.100488845G>A						ACHE_ENST00000241069.5_Silent_p.R556R|ACHE_ENST00000428317.1_Silent_p.R556R|ACHE_ENST00000411582.1_Silent_p.R556R|ACHE_ENST00000419336.2_Silent_p.R468R|ACHE_ENST00000412389.1_Silent_p.R556R	p.R556R	NM_015831.2	NP_056646.1	P22303	ACES_HUMAN			4	1806	-	Lung NSC(181;0.041)|all_lung(186;0.0581)		556					A4D2E2|B7ZKZ0|D6W5X7|Q16169|Q29S23|Q2M324|Q504V3|Q53F46|Q86TM9|Q86YX9|Q9BXP7	Silent	SNP	ENST00000412389.1	37	c.1668C>T	CCDS5709.1																																																																																				0.716	ACHE-013	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347201.1	NM_015831		3	33	0	0	0	1	0	3	33					A	100488845	G	A	100488845	2	1	347	1	0	0	0	0	0	0	0	1	141	1074	38	1		1	ACHE	7	100488845	Silent	SNP	G	TCGA-KK-A8IK-01A-11D-A364-08	52170580	100488845	58649818	13	17518											
ZNF398	57541	broad.mit.edu	37	chr7	148851149	148851149	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agctatctctctgtggacagTggtggccgccgtgcaggcta	6	10	14	11	2	2	0	0	0	2	0	3	1	2	1	2	4	2	3	2	4	2	2			TCGA-KK-A8IK-01A-11D-A364-08	TCGA-KK-A8IK-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	640ab7e7-1e44-444d-b470-196a000a9958	3a8cd4b7-4379-4fcc-b252-6c053077a0d8	g.chr7:148851149T>C	ENST00000475153.1	+	2	404	c.137T>C	c.(136-138)gTg>gCg	p.V46A	ZNF398_ENST00000335901.4_5'UTR|ZNF398_ENST00000420008.2_5'UTR|ZNF398_ENST00000426851.2_5'UTR|ZNF398_ENST00000540950.1_Missense_Mutation_p.V51A|ZNF398_ENST00000485111.1_3'UTR|ZNF398_ENST00000483892.1_5'UTR|ZNF398_ENST00000491174.1_5'UTR			Q8TD17	ZN398_HUMAN	zinc finger protein 398	46					positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(14)|ovary(1)	25	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00143)			CTGTGGACAGTGGTGGCCGCC	0.592																																						ENST00000475153.1																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(14)|ovary(1)	25						c.(136-138)gTg>gCg		zinc finger protein 398							61	62	62					7																	148851149		2203	4300	6503	SO:0001583	missense	0				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:148851149T>C	AB037760	CCDS5894.1, CCDS47739.1	7q35	2013-01-08			ENSG00000197024	ENSG00000197024		"Zinc fingers, C2H2-type", "-"	18373	protein-coding gene	gene with protein product						11779858	Standard	NM_170686		Approved	ZER6, KIAA1339, P51, P71	uc003wfl.3	Q8TD17	OTTHUMG00000158970	ENST00000475153.1:c.137T>C	7.37:g.148851149T>C	ENSP00000420418:p.Val46Ala					ZNF398_ENST00000420008.2_5'UTR|ZNF398_ENST00000540950.1_Missense_Mutation_p.V51A|ZNF398_ENST00000485111.1_3'UTR|ZNF398_ENST00000491174.1_5'UTR|ZNF398_ENST00000335901.4_5'UTR|ZNF398_ENST00000483892.1_5'UTR|ZNF398_ENST00000426851.2_5'UTR	p.V46A			Q8TD17	ZN398_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00143)		2	404	+	Melanoma(164;0.15)		46					A8K384|B4E377|Q8TD18|Q9P2K7|Q9UDV8	Missense_Mutation	SNP	ENST00000475153.1	37	c.137T>C	CCDS5894.1	.	.	.	.	.	.	.	.	.	.	T	21.0	4.077567	0.76528	.	.	ENSG00000197024	ENST00000475153;ENST00000540950	T;T	0.22134	1.97;1.97	5.33	5.33	0.75918	.	0.000000	0.44097	D	0.000490	T	0.40196	0.1107	L	0.55990	1.75	0.80722	D	1	D;D	0.71674	0.992;0.998	D;D	0.77004	0.989;0.953	T	0.23261	-1.0193	10	0.87932	D	0	-19.2771	11.7209	0.51680	0.0:0.0:0.0:1.0	.	51;46	B4DXA9;Q8TD17	.;ZN398_HUMAN	A	46;51	ENSP00000420418:V46A;ENSP00000439340:V51A	ENSP00000420418:V46A	V	+	2	0	ZNF398	148482082	1.000000	0.71417	1.000000	0.80357	0.904000	0.53231	3.076000	0.50081	2.017000	0.59298	0.533000	0.62120	GTG		0.592	ZNF398-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352722.2			37	23	0	0	0	1	0	37	23					C	148851149	T	C	148851149	3	2	347	1	0	0	0	0	1	0	0	0	17882	1696	59	4	143	4	ZNF398	7	148851149	Missense_Mutation	SNP	T	TCGA-KK-A8IK-01A-11D-A364-08	48362304	148851149	10287514	14	17519											
PNOC	5368	broad.mit.edu	37	chr8	28186778	28186778	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ccaggagaagctccacccagCcctggacagcttcgacctgg	9	5	11	16	1	0	1	0	0	0	1	2	4	1	2	5	3	3	2	5	3	1	1			TCGA-KK-A8IK-01A-11D-A364-08	TCGA-KK-A8IK-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	640ab7e7-1e44-444d-b470-196a000a9958	3a8cd4b7-4379-4fcc-b252-6c053077a0d8	g.chr8:28186778C>A	ENST00000301908.3	+	2	312	c.104C>A	c.(103-105)gCc>gAc	p.A35D	RP11-380I10.4_ENST00000521731.1_RNA	NM_006228.3	NP_006219.1	Q13519	PNOC_HUMAN	prepronociceptin	35					neuropeptide signaling pathway (GO:0007218)|sensory perception (GO:0007600)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	extracellular region (GO:0005576)	neuropeptide hormone activity (GO:0005184)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)	5		Ovarian(32;0.000953)		KIRC - Kidney renal clear cell carcinoma(542;0.104)|Kidney(114;0.125)|Colorectal(74;0.145)|BRCA - Breast invasive adenocarcinoma(99;0.245)		CTCCACCCAGCCCTGGACAGC	0.577																																						ENST00000301908.3																			0				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)	5						c.(103-105)gCc>gAc		prepronociceptin							119	99	106					8																	28186778		2203	4300	6503	SO:0001583	missense	5368				neuropeptide signaling pathway|sensory perception|synaptic transmission	extracellular region	neuropeptide hormone activity|opioid peptide activity	g.chr8:28186778C>A		CCDS6066.1, CCDS64862.1	8p21	2013-02-26			ENSG00000168081	ENSG00000168081		"Endogenous ligands"	9163	protein-coding gene	gene with protein product	"nocistatin"	601459				8710928, 10101606	Standard	XM_005273532		Approved	PPNOC	uc003xgp.3	Q13519	OTTHUMG00000102125	ENST00000301908.3:c.104C>A	8.37:g.28186778C>A	ENSP00000301908:p.Ala35Asp					RP11-380I10.4_ENST00000521731.1_RNA	p.A35D	NM_006228.3	NP_006219.1	Q13519	PNOC_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.104)|Kidney(114;0.125)|Colorectal(74;0.145)|BRCA - Breast invasive adenocarcinoma(99;0.245)	2	312	+		Ovarian(32;0.000953)	35					B7Z749|Q6FH16	Missense_Mutation	SNP	ENST00000301908.3	37	c.104C>A	CCDS6066.1	.	.	.	.	.	.	.	.	.	.	C	10.24	1.295029	0.23564	.	.	ENSG00000168081	ENST00000518479;ENST00000301908	T;T	0.77620	0.91;-1.11	4.57	3.68	0.42216	.	0.880668	0.10043	N	0.723236	T	0.74145	0.3678	L	0.44542	1.39	0.24566	N	0.993947	P	0.42456	0.78	P	0.45610	0.487	T	0.65286	-0.6205	10	0.62326	D	0.03	-3.3012	7.8444	0.29417	0.0:0.8896:0.0:0.1104	.	35	Q13519	PNOC_HUMAN	D	35	ENSP00000428059:A35D;ENSP00000301908:A35D	ENSP00000301908:A35D	A	+	2	0	PNOC	28242697	0.000000	0.05858	0.448000	0.26945	0.856000	0.48823	0.465000	0.22004	2.526000	0.85167	0.491000	0.48974	GCC		0.577	PNOC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219964.2	NM_006228		3	23	1	0	1	1	1	3	23					A	28186778	C	A	28186778	3	1	347	1	0	0	0	0	1	0	0	0	12162	739	26	5	106	5	PNOC	8	28186778	Missense_Mutation	SNP	C	TCGA-KK-A8IK-01A-11D-A364-08		28186778	118177244	15	17520											
MYC	4609	broad.mit.edu	37	chr8	128752816	128752816	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acatcagcacaactacgcagCgcctccctccactcggaagg	11	5	8	17	3	1	0	1	0	0	0	4	1	3	1	3	2	4	2	3	2	3	1			TCGA-KK-A8IK-01A-11D-A364-08	TCGA-KK-A8IK-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	640ab7e7-1e44-444d-b470-196a000a9958	3a8cd4b7-4379-4fcc-b252-6c053077a0d8	g.chr8:128752816C>G	ENST00000377970.2	+	3	1487	c.977C>G	c.(976-978)gCg>gGg	p.A326G	MYC_ENST00000524013.1_Missense_Mutation_p.A325G	NM_002467.4	NP_002458	P01106	MYC_HUMAN	v-myc avian myelocytomatosis viral oncogene homolog	311					branching involved in ureteric bud morphogenesis (GO:0001658)|canonical Wnt signaling pathway (GO:0060070)|cell cycle arrest (GO:0007050)|cellular iron ion homeostasis (GO:0006879)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to UV (GO:0034644)|chromatin remodeling (GO:0006338)|chromosome organization (GO:0051276)|energy reserve metabolic process (GO:0006112)|fibroblast apoptotic process (GO:0044346)|gene expression (GO:0010467)|MAPK cascade (GO:0000165)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell division (GO:0051782)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of monocyte differentiation (GO:0045656)|negative regulation of stress-activated MAPK cascade (GO:0032873)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|oxygen transport (GO:0015671)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of metanephric cap mesenchymal cell proliferation (GO:0090096)|positive regulation of response to DNA damage stimulus (GO:2001022)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of gene expression (GO:0010468)|regulation of telomere maintenance (GO:0032204)|response to drug (GO:0042493)|response to gamma radiation (GO:0010332)|response to growth factor (GO:0070848)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|E-box binding (GO:0070888)|protein complex binding (GO:0032403)|repressing transcription factor binding (GO:0070491)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|lung(7)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	16	all_cancers(1;6.19e-134)|all_epithelial(1;1.75e-119)|all_lung(1;5.66e-51)|Breast(1;1.08e-22)|all_neural(1;4.45e-21)|Medulloblastoma(1;1.88e-20)|Colorectal(1;1.92e-09)|Lung SC(1;4.52e-07)|Ovarian(5;0.000122)|Esophageal squamous(12;0.000995)|Renal(1;0.0921)|Hepatocellular(40;0.108)|Myeloproliferative disorder(2;0.135)|Melanoma(291;0.185)	Myeloproliferative disorder(644;0.0255)|Ovarian(118;0.0654)|Breast(495;0.212)|Acute lymphoblastic leukemia(644;0.22)	Epithelial(1;1.63e-94)|all cancers(1;5.82e-87)|OV - Ovarian serous cystadenocarcinoma(1;2.12e-71)|BRCA - Breast invasive adenocarcinoma(1;4.3e-14)|Lung(2;0.000381)|Colorectal(2;0.0102)|LUAD - Lung adenocarcinoma(14;0.0172)|READ - Rectum adenocarcinoma(2;0.0723)|LUSC - Lung squamous cell carcinoma(258;0.151)	KIRC - Kidney renal clear cell carcinoma(542;0.248)	Nadroparin(DB08813)	AACTACGCAGCGCCTCCCTCC	0.567		3	"A, T"	"IGK@, BCL5, BCL7A , BTG1, TRA@, IGH@"	"Burkitt lymphoma,  amplified in other cancers, B-CLL"																																	ENST00000377970.2		3		Dom	yes		8	8q24.12-q24.13	4609	"A, T"	v-myc myelocytomatosis viral oncogene homolog (avian)			"L, E"	"IGK@, BCL5, BCL7A , BTG1, TRA@, IGH@"		"Burkitt lymphoma,  amplified in other cancers, B-CLL"		0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|lung(7)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	16						c.(976-978)gCg>gGg		v-myc avian myelocytomatosis viral oncogene homolog							83	63	70					8																	128752816		2203	4300	6503	SO:0001583	missense	4609				branching involved in ureteric bud morphogenesis|cell cycle arrest|cell proliferation|cellular iron ion homeostasis|positive regulation of metanephric cap mesenchymal cell proliferation|positive regulation of transcription, DNA-dependent|regulation of telomere maintenance|regulation of transcription from RNA polymerase II promoter|response to drug	nucleolus|nucleoplasm	E-box binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr8:128752816C>G		CCDS6359.2	8q24	2013-07-09	2013-07-09		ENSG00000136997	ENSG00000136997		"Basic helix-loop-helix proteins"	7553	protein-coding gene	gene with protein product		190080					Standard	NM_002467		Approved	c-Myc, bHLHe39, MYCC	uc003ysi.3	P01106	OTTHUMG00000128475	ENST00000377970.2:c.977C>G	8.37:g.128752816C>G	ENSP00000367207:p.Ala326Gly					MYC_ENST00000524013.1_Missense_Mutation_p.A325G	p.A326G	NM_002467.4	NP_002458.2	P01106	MYC_HUMAN	Epithelial(1;1.63e-94)|all cancers(1;5.82e-87)|OV - Ovarian serous cystadenocarcinoma(1;2.12e-71)|BRCA - Breast invasive adenocarcinoma(1;4.3e-14)|Lung(2;0.000381)|Colorectal(2;0.0102)|LUAD - Lung adenocarcinoma(14;0.0172)|READ - Rectum adenocarcinoma(2;0.0723)|LUSC - Lung squamous cell carcinoma(258;0.151)	KIRC - Kidney renal clear cell carcinoma(542;0.248)	3	1487	+	all_cancers(1;6.19e-134)|all_epithelial(1;1.75e-119)|all_lung(1;5.66e-51)|Breast(1;1.08e-22)|all_neural(1;4.45e-21)|Medulloblastoma(1;1.88e-20)|Colorectal(1;1.92e-09)|Lung SC(1;4.52e-07)|Ovarian(5;0.000122)|Esophageal squamous(12;0.000995)|Renal(1;0.0921)|Hepatocellular(40;0.108)|Myeloproliferative disorder(2;0.135)|Melanoma(291;0.185)	Myeloproliferative disorder(644;0.0255)|Ovarian(118;0.0654)|Breast(495;0.212)|Acute lymphoblastic leukemia(644;0.22)	311					A8WFE7|P01107|Q14026	Missense_Mutation	SNP	ENST00000377970.2	37	c.977C>G	CCDS6359.2	.	.	.	.	.	.	.	.	.	.	C	18.91	3.723795	0.68959	.	.	ENSG00000136997	ENST00000377970;ENST00000524013;ENST00000454617	T;T	0.32515	1.45;1.45	5.39	5.39	0.77823	Transcription regulator Myc, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.57592	0.2064	M	0.76574	2.34	0.80722	D	1	D	0.89917	1.0	D	0.74023	0.982	T	0.61466	-0.7057	10	0.87932	D	0	-15.8885	18.133	0.89608	0.0:1.0:0.0:0.0	.	311	P01106	MYC_HUMAN	G	326;325;292	ENSP00000367207:A326G;ENSP00000430235:A325G	ENSP00000367207:A326G	A	+	2	0	MYC	128821998	1.000000	0.71417	0.204000	0.23530	0.222000	0.24845	7.814000	0.86154	2.519000	0.84933	0.650000	0.86243	GCG		0.567	MYC-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000250277.3			23	15	0	0	0	1	0	23	15					G	128752816	C	G	128752816	3	3	347	1	0	0	0	0	1	0	0	0	10016	768	27	5	987	5	MYC	8	128752816	Missense_Mutation	SNP	C	TCGA-KK-A8IK-01A-11D-A364-08	100566038	128752816	17611206	16	17521											
PHF2	5253	broad.mit.edu	37	chr9	96420442	96420442	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cccaggctctcacaaatctgGgaagcagctgccccctcatc	9	7	8	17	0	3	0	2	0	2	0	5	1	3	1	3	2	3	3	3	2	2	0			TCGA-KK-A8IK-01A-11D-A364-08	TCGA-KK-A8IK-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	640ab7e7-1e44-444d-b470-196a000a9958	3a8cd4b7-4379-4fcc-b252-6c053077a0d8	g.chr9:96420442G>C	ENST00000359246.4	+	10	1530	c.1163G>C	c.(1162-1164)gGg>gCg	p.G388A	PHF2_ENST00000375376.4_Intron	NM_005392.3	NP_005383.3	O75151	PHF2_HUMAN	PHD finger protein 2	388					liver development (GO:0001889)|negative regulation of chromatin silencing at rDNA (GO:0061188)|protein demethylation (GO:0006482)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|histone demethylase activity (H3-K9 specific) (GO:0032454)|iron ion binding (GO:0005506)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40		Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;9.11e-28)		CACAAATCTGGGAAGCAGCTG	0.567																																						ENST00000359246.4																			0				breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						c.(1162-1164)gGg>gCg		PHD finger protein 2							50	49	49					9																	96420442		2203	4300	6503	SO:0001583	missense	5253				liver development|negative regulation of chromatin silencing at rDNA|transcription, DNA-dependent	nucleolus	histone demethylase activity (H3-K9 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding	g.chr9:96420442G>C	AF043725	CCDS35069.1	9q22	2013-01-28			ENSG00000197724	ENSG00000197724		"Chromatin-modifying enzymes / K-demethylases", "Zinc fingers, PHD-type"	8920	protein-coding gene	gene with protein product	"jumonji C domain-containing histone demethylase 1E", "centromere protein 35"	604351				10051327, 20129925	Standard	NM_005392		Approved	KIAA0662, JHDM1E, CENP-35	uc004aub.3	O75151	OTTHUMG00000020253	ENST00000359246.4:c.1163G>C	9.37:g.96420442G>C	ENSP00000352185:p.Gly388Ala					PHF2_ENST00000375376.4_Intron	p.G388A	NM_005392.3	NP_005383.3	O75151	PHF2_HUMAN		OV - Ovarian serous cystadenocarcinoma(323;9.11e-28)	10	1530	+		Myeloproliferative disorder(762;0.0255)	388					Q4VXG0|Q8N3K2|Q9Y6N4	Missense_Mutation	SNP	ENST00000359246.4	37	c.1163G>C	CCDS35069.1	.	.	.	.	.	.	.	.	.	.	G	11.95	1.790373	0.31685	.	.	ENSG00000197724	ENST00000359246	T	0.47528	0.84	4.51	4.51	0.55191	.	0.247697	0.41500	D	0.000879	T	0.43077	0.1231	M	0.65975	2.015	0.80722	D	1	P	0.40731	0.728	B	0.26416	0.069	T	0.55373	-0.8151	10	0.51188	T	0.08	-31.2114	17.3926	0.87436	0.0:0.0:1.0:0.0	.	388	O75151	PHF2_HUMAN	A	388	ENSP00000352185:G388A	ENSP00000352185:G388A	G	+	2	0	PHF2	95460263	1.000000	0.71417	1.000000	0.80357	0.490000	0.33462	3.882000	0.56160	2.299000	0.77371	0.491000	0.48974	GGG		0.567	PHF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053162.1	NM_005392		19	19	0	0	0	1	0	19	19					C	96420442	G	C	96420442	3	2	347	1	0	0	0	0	1	0	0	0	11830	1232	43	5	1201	5	PHF2	9	96420442	Missense_Mutation	SNP	G	TCGA-KK-A8IK-01A-11D-A364-08		96420442	44792989	17	17522											
ANKRD30A	91074	broad.mit.edu	37	chr10	37447322	37447324	+	In_Frame_Del	DEL	TCT	TCT	-																															atgtcccttttcttatagagTctcctaataaagatggtctt																										TCGA-KK-A8IK-01A-11D-A364-08	TCGA-KK-A8IK-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	640ab7e7-1e44-444d-b470-196a000a9958	3a8cd4b7-4379-4fcc-b252-6c053077a0d8	g.chr10:37447322_37447324delTCT	ENST00000602533.1	+	14	1732_1734	c.1633_1635delTCT	c.(1633-1635)tctdel	p.S545del	ANKRD30A_ENST00000361713.1_In_Frame_Del_p.S545del|ANKRD30A_ENST00000374660.1_In_Frame_Del_p.S545del			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	601					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						TCTTATAGAGTCTCCTAATAAAG	0.31																																						ENST00000374660.1																			0				NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						c.(1633-1635)del		ankyrin repeat domain 30A																																				SO:0001651	inframe_deletion	91074					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr10:37447322_37447324delTCT	AF269087	CCDS7193.1	10p11.21	2013-01-10			ENSG00000148513	ENSG00000148513		"Ankyrin repeat domain containing"	17234	protein-coding gene	gene with protein product	"breast cancer antigen NY-BR-1"	610856				11280766	Standard	NM_052997		Approved	NY-BR-1	uc001iza.1	Q9BXX3	OTTHUMG00000017968	ENST00000602533.1:c.1633_1635delTCT	10.37:g.37447322_37447324delTCT	ENSP00000473551:p.Ser545del					ANKRD30A_ENST00000361713.1_In_Frame_Del_p.S545del|ANKRD30A_ENST00000602533.1_In_Frame_Del_p.S545del	p.S545del			Q9BXX3	AN30A_HUMAN			14	1732_1734	+			601					Q5W025	In_Frame_Del	DEL	ENST00000602533.1	37	c.1633_1635delTCT																																																																																					0.31	ANKRD30A-001	KNOWN	NMD_exception|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000047588.2	NM_052997		14	35						14	35	---	---	---	---	-	37447324	TCT	-	37447322	7	5	347	1	0	1	0	1	0	0	0	0	658	1667	58	0	1687	0	ANKRD30A	10	37447322	In_Frame_Del	DEL	TCT	TCGA-KK-A8IK-01A-11D-A364-08		37447322	98087425	18	17523											
FAM22A	728118	broad.mit.edu	37	chr10	88988143	88988143	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gccgctccttgtgactgcagGggctcctccaggcggccctc	3	8	13	17	2	0	1	0	1	0	0	4	1	3	1	5	4	1	3	5	4	0	1			TCGA-KK-A8IK-01A-11D-A364-08	TCGA-KK-A8IK-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	640ab7e7-1e44-444d-b470-196a000a9958	3a8cd4b7-4379-4fcc-b252-6c053077a0d8	g.chr10:88988143G>A	ENST00000381707.2	+	2	889	c.506G>A	c.(505-507)gGg>gAg	p.G169E	NUTM2A-AS1_ENST00000451940.2_RNA|NUTM2A_ENST00000381689.4_Missense_Mutation_p.G169E	NM_001099338.1	NP_001092808.1	Q8IVF1	NTM2A_HUMAN	NUT family member 2A	169																	GTGACTGCAGGGGCTCCTCCA	0.687																																						ENST00000381689.4																			0											c.(505-507)gGg>gAg		NUT family member 2A							32	38	36					10																	88988143		1839	4066	5905	SO:0001583	missense	728118							g.chr10:88988143G>A		CCDS44452.1	10q23.2	2013-03-15	2013-03-14	2013-03-14	ENSG00000184923	ENSG00000184923			23438	protein-coding gene	gene with protein product			"family with sequence similarity 22, member A"	FAM22A			Standard	NM_001099338		Approved		uc001kek.3	Q8IVF1	OTTHUMG00000018670	ENST00000381707.2:c.506G>A	10.37:g.88988143G>A	ENSP00000371126:p.Gly169Glu					NUTM2A-AS1_ENST00000451940.2_RNA|NUTM2A_ENST00000381707.2_Missense_Mutation_p.G169E	p.G169E							2	837	+								A6NMX5|C9JDI1|Q5VZW1	Missense_Mutation	SNP	ENST00000381707.2	37	c.506G>A	CCDS44452.1	.	.	.	.	.	.	.	.	.	.	g	9.226	1.034575	0.19590	.	.	ENSG00000184923	ENST00000381689;ENST00000381707;ENST00000416901	T;T	0.25749	1.78;1.78	1.29	0.282	0.15692	Nuclear Testis  protein, N-terminal (1);	.	.	.	.	T	0.18257	0.0438	N	0.19112	0.55	0.09310	N	1	P	0.39920	0.695	P	0.45794	0.493	T	0.19451	-1.0305	9	0.33940	T	0.23	.	5.2738	0.15639	0.0:0.6282:0.3718:0.0	.	169	Q8IVF1	FA22A_HUMAN	E	169;169;96	ENSP00000371107:G169E;ENSP00000371126:G169E	ENSP00000371107:G169E	G	+	2	0	FAM22A	88978123	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	-0.022000	0.12480	0.127000	0.18452	-1.013000	0.02462	GGG		0.687	NUTM2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049198.2	NM_001099338		12	38	0	0	0	1	0	12	38					A	88988143	G	A	88988143	3	1	347	1	0	0	0	0	1	0	0	0	5543	1232	43	3	512	3	FAM22A	10	88988143	Missense_Mutation	SNP	G	TCGA-KK-A8IK-01A-11D-A364-08	51540821	88988143	46546604	19	17524											
EXT2	2132	broad.mit.edu	37	chr11	44146380	44146380	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcatctcaggtgggtctccAtcctgagtacagagaggacc	9	9	12	11	0	3	2	2	1	2	1	6	4	4	3	3	3	1	1	3	3	1	1			TCGA-KK-A8IK-01A-11D-A364-08	TCGA-KK-A8IK-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	640ab7e7-1e44-444d-b470-196a000a9958	3a8cd4b7-4379-4fcc-b252-6c053077a0d8	g.chr11:44146380A>C	ENST00000343631.3	+	5	914	c.785A>C	c.(784-786)cAt>cCt	p.H262P	EXT2_ENST00000395673.3_Missense_Mutation_p.H295P|EXT2_ENST00000358681.4_Missense_Mutation_p.H262P|EXT2_ENST00000533608.1_Missense_Mutation_p.H262P			Q93063	EXT2_HUMAN	exostosin glycosyltransferase 2	262					carbohydrate metabolic process (GO:0005975)|cell differentiation (GO:0030154)|cellular polysaccharide biosynthetic process (GO:0033692)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process (GO:0015014)|mesoderm formation (GO:0001707)|ossification (GO:0001503)|protein glycosylation (GO:0006486)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)|membrane (GO:0016020)	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity (GO:0050508)|glucuronosyltransferase activity (GO:0015020)|heparan sulfate N-acetylglucosaminyltransferase activity (GO:0042328)|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity (GO:0050509)|protein heterodimerization activity (GO:0046982)|transferase activity, transferring glycosyl groups (GO:0016757)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|lung(17)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	32						GTGGGTCTCCATCCTGAGTAC	0.473			"Mis, N, F, S"			"exostoses, osteosarcoma"			Hereditary Multiple Exostoses																													ENST00000395673.3			yes	Rec		Multiple Exostoses Type 2	11	11p12-p11	2132	"Mis, N, F, S"	multiple exostoses type 2 gene			M		"exostoses, osteosarcoma"			0				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|lung(17)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	32						c.(883-885)cAt>cCt		exostosin glycosyltransferase 2							77	66	69					11																	44146380		2203	4300	6503	SO:0001583	missense	2132	Hereditary Multiple Exostoses	Familial Cancer Database	HME, Hereditary Exostoses, Multiple Osteochondromatosis, Multiple Cartilaginous Exostoses	glycosaminoglycan biosynthetic process|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|ossification|signal transduction	Golgi membrane|integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|heparan sulfate N-acetylglucosaminyltransferase activity|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity|protein heterodimerization activity	g.chr11:44146380A>C		CCDS7908.1, CCDS53618.1, CCDS53619.1	11p12-p11	2014-09-17	2013-03-01		ENSG00000151348	ENSG00000151348	2.4.1.224, 2.4.1.225	"Exostosin glycosyltransferase family"	3513	protein-coding gene	gene with protein product	"Glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N- acetylglucosaminyltransferase", "N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase"	608210	"exostoses (multiple) 2", "exostosin 2"			8162019, 9576285	Standard	NM_000401		Approved	SOTV	uc001mya.3	Q93063	OTTHUMG00000166498	ENST00000343631.3:c.785A>C	11.37:g.44146380A>C	ENSP00000342656:p.His262Pro					EXT2_ENST00000533608.1_Missense_Mutation_p.H262P|EXT2_ENST00000343631.3_Missense_Mutation_p.H262P|EXT2_ENST00000358681.4_Missense_Mutation_p.H262P	p.H295P	NM_000401.3	NP_000392.3	Q93063	EXT2_HUMAN			5	940	+			262					B2R5Z6|C9JU51|J3KPT2|O15288	Missense_Mutation	SNP	ENST00000343631.3	37	c.884A>C	CCDS7908.1	.	.	.	.	.	.	.	.	.	.	A	15.72	2.917038	0.52546	.	.	ENSG00000151348	ENST00000533608;ENST00000358681;ENST00000395673;ENST00000343631	D;D;D;D	0.97620	-4.46;-4.46;-4.46;-4.46	5.81	5.81	0.92471	.	0.000000	0.85682	D	0.000000	D	0.97726	0.9254	L	0.55834	1.745	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.998;0.997;0.999;0.999	D;D;D;D;D	0.91635	0.999;0.972;0.953;0.972;0.972	D	0.97523	1.0074	10	0.33940	T	0.23	-16.8355	16.1699	0.81801	1.0:0.0:0.0:0.0	.	262;262;262;262;275	Q6NUL1;C9JU51;Q93063-2;Q93063;D3DR24	.;.;.;EXT2_HUMAN;.	P	262;262;295;262	ENSP00000431173:H262P;ENSP00000351509:H262P;ENSP00000379032:H295P;ENSP00000342656:H262P	ENSP00000342656:H262P	H	+	2	0	EXT2	44102956	1.000000	0.71417	0.913000	0.36048	0.757000	0.42996	8.733000	0.91539	2.217000	0.71921	0.533000	0.62120	CAT		0.473	EXT2-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390074.1	NM_000401		14	2	0	0	0	1	0	14	2					C	44146380	A	C	44146380	3	2	347	1	0	0	0	0	1	0	0	0	5324	217	8	5	902	5	EXT2	11	44146380	Missense_Mutation	SNP	A	TCGA-KK-A8IK-01A-11D-A364-08		44146380	90860136	20	17525											
FGF3	2248	broad.mit.edu	37	chr11	69625454	69625454	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgctccacaaactcgcactcGgcgctgtagtgctcctgcgg	6	8	11	16	5	0	0	0	0	0	0	4	0	2	0	2	2	3	5	2	2	2	1			TCGA-KK-A8IK-01A-11D-A364-08	TCGA-KK-A8IK-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	640ab7e7-1e44-444d-b470-196a000a9958	3a8cd4b7-4379-4fcc-b252-6c053077a0d8	g.chr11:69625454G>A	ENST00000334134.2	-	3	429	c.339C>T	c.(337-339)gcC>gcT	p.A113A		NM_005247.2	NP_005238.1	P11487	FGF3_HUMAN	fibroblast growth factor 3	113					anatomical structure morphogenesis (GO:0009653)|cell-cell signaling (GO:0007267)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|negative regulation of cardiac muscle tissue development (GO:0055026)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ induction (GO:0001759)|otic vesicle formation (GO:0030916)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|post-anal tail morphogenesis (GO:0036342)|semicircular canal morphogenesis (GO:0048752)|signal transduction (GO:0007165)|thymus development (GO:0048538)	extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)	growth factor activity (GO:0008083)			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|urinary_tract(1)	13			LUSC - Lung squamous cell carcinoma(11;5.05e-15)|STAD - Stomach adenocarcinoma(18;0.0278)			ACTCGCACTCGGCGCTGTAGT	0.652																																						ENST00000334134.2																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|urinary_tract(1)	13						c.(337-339)gcC>gcT		fibroblast growth factor 3							36	40	39					11																	69625454		2196	4282	6478	SO:0001819	synonymous_variant	2248				fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|negative regulation of cardiac muscle tissue development|positive regulation of cell division|positive regulation of cell proliferation	extracellular region	growth factor activity	g.chr11:69625454G>A		CCDS8195.1	11q13	2010-06-25	2010-06-25		ENSG00000186895	ENSG00000186895			3681	protein-coding gene	gene with protein product	"INT-2 proto-oncogene protein", "oncogene INT2", "V-INT2 murine mammary tumor virus integration site oncogene homolog", "murine mammary tumor virus integration site 2, mouse"	164950	"fibroblast growth factor 3 (murine mammary tumor virus integration site (v-int-2) oncogene homolog)"	INT2			Standard	NM_005247		Approved	HBGF-3	uc001oph.3	P11487	OTTHUMG00000167888	ENST00000334134.2:c.339C>T	11.37:g.69625454G>A							p.A113A	NM_005247.2	NP_005238.1	P11487	FGF3_HUMAN	LUSC - Lung squamous cell carcinoma(11;5.05e-15)|STAD - Stomach adenocarcinoma(18;0.0278)		3	429	-			113					Q0VG69	Silent	SNP	ENST00000334134.2	37	c.339C>T	CCDS8195.1																																																																																				0.652	FGF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396835.1	NM_005247		4	29	0	0	0	1	0	4	29					A	69625454	G	A	69625454	2	1	347	1	0	0	0	0	0	0	0	1	5853	1103	39	2		2	FGF3	11	69625454	Silent	SNP	G	TCGA-KK-A8IK-01A-11D-A364-08	25479074	69625454	65381062	21	17526											
C11orf88	399949	broad.mit.edu	37	chr11	111404529	111404529	+	Splice_Site	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acaaagagaagaaaggatctCggtgagaccaatagtgaggc	17	5	13	6	1	1	4	0	2	1	3	2	7	1	5	1	3	0	0	1	3	5	1	rs200623359		TCGA-KK-A8IK-01A-11D-A364-08	TCGA-KK-A8IK-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	640ab7e7-1e44-444d-b470-196a000a9958	3a8cd4b7-4379-4fcc-b252-6c053077a0d8	g.chr11:111404529C>A	ENST00000375618.4	+	4	398	c.398C>A	c.(397-399)tCg>tAg	p.S133*	C11orf88_ENST00000332814.6_Splice_Site_p.S160*|C11orf88_ENST00000529167.1_Splice_Site_p.S160*	NM_001100388.1	NP_001093858.1	Q6PI97	CK088_HUMAN	chromosome 11 open reading frame 88	133										endometrium(1)|large_intestine(3)|lung(2)	6						GAAAGGATCTCGGTGAGACCA	0.358																																						ENST00000529167.1																			0				endometrium(1)|large_intestine(3)|lung(2)	6						c.e5+1		chromosome 11 open reading frame 88							80	75	77					11																	111404529		1803	4074	5877	SO:0001630	splice_region_variant	399949							g.chr11:111404529C>A	BC039505, AK128145	CCDS41712.1, CCDS41713.1	11q23.1	2012-08-10			ENSG00000183644	ENSG00000183644			25061	protein-coding gene	gene with protein product	"hypothetical gene supported by BC039505"					12477932	Standard	NM_001100388		Approved	FLJ46266	uc009yyd.3	Q6PI97	OTTHUMG00000166720	ENST00000375618.4:c.399+1C>A	11.37:g.111404529C>A						C11orf88_ENST00000332814.6_Splice_Site_p.S160_splice|C11orf88_ENST00000375618.4_Splice_Site_p.S133_splice	p.S160_splice			Q6PI97	CK088_HUMAN			5	479	+			133					E9PAN0|Q6ZRL3	Splice_Site	SNP	ENST00000375618.4	37	c.480_splice	CCDS41713.1	.	.	.	.	.	.	.	.	.	.	C	11.61	1.691253	0.30052	.	.	ENSG00000183644	ENST00000375618;ENST00000529167;ENST00000332814	.	.	.	5.24	-7.01	0.01594	.	2.037800	0.02018	N	0.047595	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	0.0151	4.4502	0.11617	0.1142:0.1822:0.1126:0.591	.	.	.	.	X	133;160;160	.	ENSP00000333845:S160X	S	+	2	0	C11orf88	110909739	0.001000	0.12720	0.579000	0.28588	0.731000	0.41821	-2.580000	0.00907	-1.070000	0.03149	-0.140000	0.14226	TCG		0.358	C11orf88-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000391181.1	NM_001100388	Nonsense_Mutation	43	3	1	0	9.58827e-17	1	1.08958e-16	43	3					A	111404529	C	A	111404529	5	1	347	1	0	0	0	0	0	0	1	0	1670	898	31	5	497	5	C11orf88	11	111404529	Splice_Site	SNP	C	TCGA-KK-A8IK-01A-11D-A364-08	41779075	111404529	23601987	22	17527											
CBL	867	broad.mit.edu	37	chr11	119169173	119169173	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	acctgtgccggccgtgctggCccgccgaactctctcagata	6	8	11	16	4	2	1	1	0	1	1	3	2	2	1	5	2	3	1	5	2	2	1			TCGA-KK-A8IK-01A-11D-A364-08	TCGA-KK-A8IK-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	640ab7e7-1e44-444d-b470-196a000a9958	3a8cd4b7-4379-4fcc-b252-6c053077a0d8	g.chr11:119169173C>G	ENST00000264033.4	+	15	2733	c.2357C>G	c.(2356-2358)gCc>gGc	p.A786G		NM_005188.3	NP_005179.2	P22681	CBL_HUMAN	Cbl proto-oncogene, E3 ubiquitin protein ligase	786	Asp/Glu-rich (acidic).|Interaction with CD2AP.				cell surface receptor signaling pathway (GO:0007166)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of receptor-mediated endocytosis (GO:0048260)|protein ubiquitination (GO:0016567)|regulation of transcription, DNA-templated (GO:0006355)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|flotillin complex (GO:0016600)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|ephrin receptor binding (GO:0046875)|ligase activity (GO:0016874)|sequence-specific DNA binding transcription factor activity (GO:0003700)|SH3 domain binding (GO:0017124)|signal transducer activity (GO:0004871)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(194)|kidney(3)|large_intestine(9)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	251		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.92e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.000784)		GCCGTGCTGGCCCGCCGAACT	0.552			"T, Mis S, O"	MLL	"AML, JMML, MDS"				Noonan syndrome;CBL gene-associated Juvenile Myelomonocytic Leukemia and Developmental Anomalies																													ENST00000264033.4				"Dom, Rec"	yes		11	11q23.3	867	"T, Mis S, O"	Cas-Br-M (murine) ecotropic retroviral transforming			L	MLL		"AML, JMML, MDS"		0				breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(194)|kidney(3)|large_intestine(9)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	251						c.(2356-2358)gCc>gGc		Cbl proto-oncogene, E3 ubiquitin protein ligase							85	81	83					11																	119169173		2199	4295	6494	SO:0001583	missense	867	Noonan syndrome;CBL gene-associated Juvenile Myelomonocytic Leukemia and Developmental Anomalies	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CBL-associated JMML	epidermal growth factor receptor signaling pathway|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of receptor-mediated endocytosis	cytosol|nucleus	calcium ion binding|sequence-specific DNA binding transcription factor activity|SH3 domain binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding	g.chr11:119169173C>G	X57110	CCDS8418.1	11q23.3	2014-09-17	2012-02-23		ENSG00000110395	ENSG00000110395		"RING-type (C3HC4) zinc fingers"	1541	protein-coding gene	gene with protein product	"oncogene CBL2"	165360	"Cas-Br-M (murine) ecotropic retroviral transforming sequence"	CBL2		2013228	Standard	NM_005188		Approved	RNF55, c-Cbl	uc001pwe.4	P22681	OTTHUMG00000166170	ENST00000264033.4:c.2357C>G	11.37:g.119169173C>G	ENSP00000264033:p.Ala786Gly						p.A786G	NM_005188.3	NP_005179.2	P22681	CBL_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.92e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.000784)	15	2733	+		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)	786			Asp/Glu-rich (acidic).|Interaction with CD2AP.		A3KMP8	Missense_Mutation	SNP	ENST00000264033.4	37	c.2357C>G	CCDS8418.1	.	.	.	.	.	.	.	.	.	.	C	15.67	2.901479	0.52227	.	.	ENSG00000110395	ENST00000264033	D	0.82081	-1.57	5.59	5.59	0.84812	.	0.051154	0.85682	D	0.000000	T	0.77758	0.4178	L	0.34521	1.04	0.80722	D	1	P	0.43094	0.799	B	0.38378	0.272	T	0.80226	-0.1470	10	0.56958	D	0.05	-11.846	19.6034	0.95572	0.0:1.0:0.0:0.0	.	786	P22681	CBL_HUMAN	G	786	ENSP00000264033:A786G	ENSP00000264033:A786G	A	+	2	0	CBL	118674383	1.000000	0.71417	1.000000	0.80357	0.648000	0.38561	6.809000	0.75211	2.623000	0.88846	0.650000	0.86243	GCC		0.552	CBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388219.4	NM_005188		4	43	0	0	0	1	0	4	43					G	119169173	C	G	119169173	3	3	347	1	0	0	0	0	1	0	0	0	2700	739	26	5	2415	5	CBL	11	119169173	Missense_Mutation	SNP	C	TCGA-KK-A8IK-01A-11D-A364-08	7764644	119169173	15837343	23	17528											
TNFRSF1A	7132	broad.mit.edu	37	chr12	6440068	6440068	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atctggggtaggcacaacttCgtgcactccaggcttttctt	7	13	10	11	1	2	0	0	0	2	0	4	0	3	0	1	4	2	4	1	4	2	5			TCGA-KK-A8IK-01A-11D-A364-08	TCGA-KK-A8IK-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	640ab7e7-1e44-444d-b470-196a000a9958	3a8cd4b7-4379-4fcc-b252-6c053077a0d8	g.chr12:6440068C>T	ENST00000162749.2	-	6	875	c.576G>A	c.(574-576)acG>acA	p.T192T	TNFRSF1A_ENST00000437813.3_5'Flank|TNFRSF1A_ENST00000540022.1_Silent_p.T149T	NM_001065.3	NP_001056.1	P19438	TNR1A_HUMAN	tumor necrosis factor receptor superfamily, member 1A	192					apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cellular response to estradiol stimulus (GO:0071392)|cellular response to mechanical stimulus (GO:0071260)|cytokine-mediated signaling pathway (GO:0019221)|defense response to bacterium (GO:0042742)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|inflammatory response (GO:0006954)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of apoptotic process (GO:0043066)|negative regulation of gene expression (GO:0010629)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-6 production (GO:0032715)|positive regulation of angiogenesis (GO:0045766)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of inflammatory response (GO:0050729)|positive regulation of protein import into nucleus, translocation (GO:0033160)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|prostaglandin metabolic process (GO:0006693)|protein heterooligomerization (GO:0051291)|response to alkaloid (GO:0043279)|response to amino acid (GO:0043200)|response to ethanol (GO:0045471)|response to hypoxia (GO:0001666)|response to lipopolysaccharide (GO:0032496)|response to wounding (GO:0009611)|tetrapyrrole metabolic process (GO:0033013)|viral process (GO:0016032)	axon (GO:0030424)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	tumor necrosis factor-activated receptor activity (GO:0005031)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	19						GGCACAACTTCGTGCACTCCA	0.507																																						ENST00000162749.2																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	19						c.(574-576)acG>acA		tumor necrosis factor receptor superfamily, member 1A							84	70	75					12																	6440068		2203	4300	6503	SO:0001819	synonymous_variant	7132				apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|inflammatory response|interspecies interaction between organisms|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of inflammatory response|positive regulation of transcription from RNA polymerase II promoter|prostaglandin metabolic process	extracellular region|integral to plasma membrane|membrane raft	tumor necrosis factor receptor activity	g.chr12:6440068C>T	M75866	CCDS8542.1	12p13.2	2014-09-17			ENSG00000067182	ENSG00000067182		"Tumor necrosis factor receptor superfamily", "CD molecules"	11916	protein-coding gene	gene with protein product		191190		TNFR1		1655358, 2158863	Standard	NM_001065		Approved	TNF-R, TNFAR, TNFR60, TNF-R-I, CD120a, TNF-R55	uc001qnu.3	P19438	OTTHUMG00000168267	ENST00000162749.2:c.576G>A	12.37:g.6440068C>T						TNFRSF1A_ENST00000540022.1_Silent_p.T149T	p.T192T	NM_001065.3	NP_001056.1	P19438	TNR1A_HUMAN			6	875	-			192					A8K4X3|B2RDE4|B3KPQ1|B4DQB7|B4E309|B5M0B5|D3DUR1|Q9UCA4	Silent	SNP	ENST00000162749.2	37	c.576G>A	CCDS8542.1																																																																																				0.507	TNFRSF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399038.1	NM_001065		9	27	0	0	0	1	0	9	27					T	6440068	C	T	6440068	2	4	347	1	0	0	0	0	0	0	0	1	16290	871	31	2		2	TNFRSF1A	12	6440068	Silent	SNP	C	TCGA-KK-A8IK-01A-11D-A364-08		6440068	127411827	24	17529											
C12orf10	60314	broad.mit.edu	37	chr12	53693739	53693739	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cctcctgccggagtaccgggTacggtccgcgaaaagtgacc	8	6	13	14	5	0	1	0	1	0	0	2	3	2	2	6	3	3	2	6	3	4	2			TCGA-KK-A8IK-01A-11D-A364-08	TCGA-KK-A8IK-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	640ab7e7-1e44-444d-b470-196a000a9958	3a8cd4b7-4379-4fcc-b252-6c053077a0d8	g.chr12:53693739T>C	ENST00000267103.5	+	1	268		c.e1+2		RP11-680A11.5_ENST00000550263.1_RNA|C12orf10_ENST00000548632.1_Splice_Site|C12orf10_ENST00000549488.1_5'Flank	NM_021640.3	NP_067653	Q9HB07	MYG1_HUMAN	chromosome 12 open reading frame 10						locomotory exploration behavior (GO:0035641)|pigmentation (GO:0043473)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)				cervix(1)|endometrium(3)|kidney(5)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)	20						GAGTACCGGGTACGGTCCGCG	0.647											OREG0021864	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000267103.5																			0				cervix(1)|endometrium(3)|kidney(5)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)	20						c.e1+2		chromosome 12 open reading frame 10							39	38	38					12																	53693739		2203	4300	6503	SO:0001630	splice_region_variant	60314							g.chr12:53693739T>C	AF289485	CCDS31810.1	12q13.13	2014-05-29			ENSG00000139637	ENSG00000139637			17590	protein-coding gene	gene with protein product	"melanocyte related gene", "melanocyte proliferating gene 1"	611366					Standard	NM_021640		Approved	MYG, MYG1, Gamm1	uc001scp.4	Q9HB07	OTTHUMG00000170030	ENST00000267103.5:c.216+2T>C	12.37:g.53693739T>C			OREG0021864	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	994	C12orf10_ENST00000548632.1_Splice_Site|RP11-680A11.5_ENST00000550263.1_RNA		NM_021640.3	NP_067653.3	Q86UA3	Q86UA3_HUMAN			1	268	+									Splice_Site	SNP	ENST00000267103.5	37		CCDS31810.1	.	.	.	.	.	.	.	.	.	.	T	12.63	1.995654	0.35226	.	.	ENSG00000139637	ENST00000267103;ENST00000545214;ENST00000548632	.	.	.	4.23	4.23	0.50019	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.5951	0.50968	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	C12orf10	51980006	1.000000	0.71417	0.893000	0.35052	0.227000	0.25037	4.899000	0.63245	1.933000	0.56026	0.402000	0.26972	.		0.647	C12orf10-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406906.1	NM_021640	Intron	13	15	0	0	0	1	0	13	15					C	53693739	T	C	53693739	5	2	347	1	0	0	0	0	0	0	1	0	1674	1652	57	4	220	4	C12orf10	12	53693739	Splice_Site	SNP	T	TCGA-KK-A8IK-01A-11D-A364-08	47253671	53693739	80158156	25	17530											
TCTN2	79867	broad.mit.edu	37	chr12	124163788	124163788	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cagccccttggcccttgtccTtgtaatttaacagctggagc	7	12	9	13	0	0	0	0	0	0	0	1	1	1	1	4	2	4	2	4	2	2	6			TCGA-KK-A8IK-01A-11D-A364-08	TCGA-KK-A8IK-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	640ab7e7-1e44-444d-b470-196a000a9958	3a8cd4b7-4379-4fcc-b252-6c053077a0d8	g.chr12:124163788T>G	ENST00000303372.5	+	5	644	c.516T>G	c.(514-516)ccT>ccG	p.P172P	TCTN2_ENST00000426174.2_Silent_p.P171P	NM_001143850.2|NM_024809.4	NP_001137322.1|NP_079085.2	Q96GX1	TECT2_HUMAN	tectonic family member 2	172	Cys-rich.				cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|smoothened signaling pathway (GO:0007224)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|TCTN-B9D complex (GO:0036038)				breast(2)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000163)|Epithelial(86;0.000502)|all cancers(50;0.00451)		GCCCTTGTCCTTGTAATTTAA	0.448																																						ENST00000303372.5																			0				breast(2)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30						c.(514-516)ccT>ccG		tectonic family member 2							241	212	221					12																	124163788		2203	4300	6503	SO:0001819	synonymous_variant	79867				cilium assembly|smoothened signaling pathway	integral to membrane		g.chr12:124163788T>G	AK056924	CCDS9253.1, CCDS45007.1	12q24.31	2011-04-12	2007-08-20	2007-08-20	ENSG00000168778	ENSG00000168778		"Tectonic proteins"	25774	protein-coding gene	gene with protein product	"Meckel syndrome, type 8"	613846	"chromosome 12 open reading frame 38"	C12orf38		21462283	Standard	NM_024809		Approved	FLJ12975, TECT2, MKS8	uc001ufp.3	Q96GX1	OTTHUMG00000168700	ENST00000303372.5:c.516T>G	12.37:g.124163788T>G						TCTN2_ENST00000426174.2_Silent_p.P171P	p.P172P	NM_001143850.2|NM_024809.4	NP_001137322.1|NP_079085.2	Q96GX1	TECT2_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000163)|Epithelial(86;0.000502)|all cancers(50;0.00451)	5	644	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		172			Cys-rich.		A8K7Y8|B3KPW5|Q9H966	Silent	SNP	ENST00000303372.5	37	c.516T>G	CCDS9253.1																																																																																				0.448	TCTN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000400652.1	NM_024809		39	4	0	0	0	1	0	39	4					G	124163788	T	G	124163788	2	3	347	1	0	0	0	0	0	0	0	1	15720	1596	56	5		5	TCTN2	12	124163788	Silent	SNP	T	TCGA-KK-A8IK-01A-11D-A364-08	70470049	124163788	9688107	26	17531											
POTEM	641455	broad.mit.edu	37	chr14	20019962	20019962	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgtcttcatagcagagtcgtCgtggtctccagaagtgccca	8	11	11	11	2	3	2	1	0	2	2	6	2	3	2	2	1	2	1	2	1	2	2			TCGA-KK-A8IK-01A-11D-A364-08	TCGA-KK-A8IK-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	640ab7e7-1e44-444d-b470-196a000a9958	3a8cd4b7-4379-4fcc-b252-6c053077a0d8	g.chr14:20019962C>T	ENST00000551509.1	-	1	310	c.259G>A	c.(259-261)Gac>Aac	p.D87N		NM_001145442.1	NP_001138914.1	A6NI47	POTEM_HUMAN	POTE ankyrin domain family, member M	87										endometrium(4)|kidney(1)|lung(4)	9						GCAGAGTCGTCGTGGTCTCCA	0.612																																						ENST00000551509.1																			0				endometrium(4)|kidney(1)|lung(4)	9						c.(259-261)Gac>Aac		POTE ankyrin domain family, member M							8	15	13					14																	20019962		315	1140	1455	SO:0001583	missense	641455							g.chr14:20019962C>T		CCDS73609.1	14q11.2	2013-01-10			ENSG00000187537	ENSG00000187537		"POTE ankyrin domain containing", "Ankyrin repeat domain containing"	37096	protein-coding gene	gene with protein product	"prostate-specific P704P"					16364570	Standard	NM_001145442		Approved	POTE14beta, P704P, ACT	uc001vwc.3	A6NI47		ENST00000551509.1:c.259G>A	14.37:g.20019962C>T	ENSP00000452296:p.Asp87Asn						p.D87N	NM_001145442.1	NP_001138914.1	A6NI47	POTEM_HUMAN			1	310	-			87						Missense_Mutation	SNP	ENST00000551509.1	37	c.259G>A	CCDS45076.1	.	.	.	.	.	.	.	.	.	.	c	6.451	0.451319	0.12223	.	.	ENSG00000187537	ENST00000551509;ENST00000439503;ENST00000344684	T	0.28895	1.59	.	.	.	.	.	.	.	.	T	0.22166	0.0534	L	0.61218	1.895	0.09310	N	1	P	0.41710	0.76	B	0.27500	0.08	T	0.12656	-1.0539	6	.	.	.	.	.	.	.	.	87	A6NI47	POTEM_HUMAN	N	87	ENSP00000452296:D87N	.	D	-	1	0	POTEM	19089962	0.000000	0.05858	0.001000	0.08648	0.012000	0.07955	-0.961000	0.03845	0.483000	0.27608	0.152000	0.16155	GAC		0.612	POTEM-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409490.3	NM_001145442		47	116	0	0	0	1	0	47	116					T	20019962	C	T	20019962	3	4	347	1	0	0	0	0	1	0	0	0	12268	884	31	2	1307	2	POTEM	14	20019962	Missense_Mutation	SNP	C	TCGA-KK-A8IK-01A-11D-A364-08		20019962	87329578	27	17532											
FOXA1	3169	broad.mit.edu	37	chr14	38061200	38061202	+	In_Frame_Del	DEL	CTG	CTG	-																															ttctcgcacttgaagcgcttCtggcggcgcaagtagcagcc																										TCGA-KK-A8IK-01A-11D-A364-08	TCGA-KK-A8IK-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	640ab7e7-1e44-444d-b470-196a000a9958	3a8cd4b7-4379-4fcc-b252-6c053077a0d8	g.chr14:38061200_38061202delCTG	ENST00000250448.2	-	2	848_850	c.787_789delCAG	c.(787-789)cagdel	p.Q263del	FOXA1_ENST00000545425.2_5'UTR|FOXA1_ENST00000540786.1_In_Frame_Del_p.Q230del	NM_004496.3	NP_004487.2	P55317	FOXA1_HUMAN	forkhead box A1	263					anatomical structure formation involved in morphogenesis (GO:0048646)|chromatin remodeling (GO:0006338)|dorsal/ventral neural tube patterning (GO:0021904)|epithelial cell maturation involved in prostate gland development (GO:0060743)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|epithelial-mesenchymal signaling involved in prostate gland development (GO:0060738)|glucose homeostasis (GO:0042593)|hormone metabolic process (GO:0042445)|lung epithelial cell differentiation (GO:0060487)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron fate specification (GO:0048665)|positive regulation of cell-cell adhesion mediated by cadherin (GO:2000049)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prostate gland epithelium morphogenesis (GO:0060740)|prostate gland stromal morphogenesis (GO:0060741)|response to estradiol (GO:0032355)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)	microvillus (GO:0005902)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|endometrium(1)|large_intestine(2)|lung(3)|prostate(12)	19	Breast(36;0.0954)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		Lung(238;5.41e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0454)|LUSC - Lung squamous cell carcinoma(13;0.0917)|all cancers(34;0.0925)|BRCA - Breast invasive adenocarcinoma(188;0.239)	GBM - Glioblastoma multiforme(112;0.0222)		TGAAGCGCTTCTGGCGGCGCAAG	0.719																																						ENST00000250448.2																			0				breast(1)|endometrium(1)|large_intestine(2)|lung(3)|prostate(12)	19						c.(787-789)del		forkhead box A1																																				SO:0001651	inframe_deletion	3169				chromatin remodeling|embryo development|epithelial cell maturation involved in prostate gland development|epithelial tube branching involved in lung morphogenesis|epithelial-mesenchymal signaling involved in prostate gland development|glucose homeostasis|lung epithelial cell differentiation|negative regulation of survival gene product expression|neuron fate specification|pattern specification process|positive regulation of estrogen receptor signaling pathway|positive regulation of mitotic cell cycle|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|prostate gland epithelium morphogenesis|prostate gland stromal morphogenesis|response to estradiol stimulus|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development	transcription factor complex	DNA bending activity|double-stranded DNA binding|protein domain specific binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding	g.chr14:38061200_38061202delCTG	U39840	CCDS9665.1	14q12-q13	2008-04-10		2002-09-20	ENSG00000129514	ENSG00000129514		"Forkhead boxes"	5021	protein-coding gene	gene with protein product		602294	"hepatocyte nuclear factor 3, alpha"	HNF3A		9119385, 8652662	Standard	NM_004496		Approved		uc001wuf.4	P55317	OTTHUMG00000140253	ENST00000250448.2:c.787_789delCAG	14.37:g.38061200_38061202delCTG	ENSP00000250448:p.Gln263del					FOXA1_ENST00000545425.2_5'UTR|FOXA1_ENST00000540786.1_In_Frame_Del_p.Q230del	p.Q263del	NM_004496.3	NP_004487.2	P55317	FOXA1_HUMAN	Lung(238;5.41e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0454)|LUSC - Lung squamous cell carcinoma(13;0.0917)|all cancers(34;0.0925)|BRCA - Breast invasive adenocarcinoma(188;0.239)	GBM - Glioblastoma multiforme(112;0.0222)	2	848_850	-	Breast(36;0.0954)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		263					B2R9H6|B7ZAP5|Q9H2A0	In_Frame_Del	DEL	ENST00000250448.2	37	c.787_789delCAG	CCDS9665.1																																																																																				0.719	FOXA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276735.1			13	9						13	9	---	---	---	---	-	38061202	CTG	-	38061200	7	5	347	1	0	1	0	1	0	0	0	0	5989	912	32	0	633	0	FOXA1	14	38061200	In_Frame_Del	DEL	CTG	TCGA-KK-A8IK-01A-11D-A364-08	18041238	38061200	69288340	28	17533											
ISM2	145501	broad.mit.edu	37	chr14	77950790	77950790	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cattccctggggtcagggctGctggctcagtgacagtccaa	7	9	13	12	0	2	1	2	1	0	0	4	1	4	1	2	4	1	3	2	4	1	1			TCGA-KK-A8IK-01A-11D-A364-08	TCGA-KK-A8IK-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	640ab7e7-1e44-444d-b470-196a000a9958	3a8cd4b7-4379-4fcc-b252-6c053077a0d8	g.chr14:77950790G>A	ENST00000342219.4	-	3	559	c.503C>T	c.(502-504)gCa>gTa	p.A168V	ISM2_ENST00000412904.1_Intron|ISM2_ENST00000429906.1_Missense_Mutation_p.A87V|ISM2_ENST00000493585.1_Missense_Mutation_p.A168V|ISM2_ENST00000393684.3_Missense_Mutation_p.A80V	NM_199296.2	NP_954993.1	Q6H9L7	ISM2_HUMAN	isthmin 2	168						extracellular region (GO:0005576)				endometrium(3)|large_intestine(4)|lung(11)|prostate(1)|skin(1)|urinary_tract(1)	21						GGTCAGGGCTGCTGGCTCAGT	0.612																																						ENST00000393684.3																			0				endometrium(3)|large_intestine(4)|lung(11)|prostate(1)|skin(1)|urinary_tract(1)	21						c.(238-240)gCa>gTa		isthmin 2							117	103	108					14																	77950790		2203	4300	6503	SO:0001583	missense	145501					extracellular region		g.chr14:77950790G>A	AK056709	CCDS9864.1, CCDS45143.1	14q24.3	2013-05-15	2013-05-15	2008-12-23	ENSG00000100593	ENSG00000100593			23176	protein-coding gene	gene with protein product	"thrombospondin and AMOP containing isthmin-like 1"	612684	"thrombospondin, type I domain-containing 3", "thrombospondin, type I, domain containing 3", "isthmin 2 homolog (zebrafish)"	THSD3		15194193	Standard	NM_199296		Approved	FLJ32147, TAIL1	uc001xtz.3	Q6H9L7	OTTHUMG00000158563	ENST00000342219.4:c.503C>T	14.37:g.77950790G>A	ENSP00000341490:p.Ala168Val					ISM2_ENST00000493585.1_Missense_Mutation_p.A168V|ISM2_ENST00000429906.1_Missense_Mutation_p.A87V|ISM2_ENST00000412904.1_Intron|ISM2_ENST00000342219.4_Missense_Mutation_p.A168V	p.A80V			Q6H9L7	ISM2_HUMAN			4	630	-			168					A8K6D5|O95432|Q495U5|Q68CN3|Q86TQ7|Q86TW3|Q86TW4|Q8N501|Q8NBL0	Missense_Mutation	SNP	ENST00000342219.4	37	c.239C>T	CCDS9864.1	.	.	.	.	.	.	.	.	.	.	G	15.72	2.916518	0.52546	.	.	ENSG00000100593	ENST00000342219;ENST00000429906;ENST00000393684;ENST00000493585;ENST00000554801	T;T;T;T	0.38887	1.89;1.9;2.2;1.11	3.15	2.2	0.27929	.	1.515610	0.04088	U	0.310872	T	0.45657	0.1353	L	0.40543	1.245	0.09310	N	1	D;P	0.54207	0.965;0.889	P;B	0.52554	0.702;0.346	T	0.35325	-0.9793	10	0.48119	T	0.1	.	5.7838	0.18322	0.1136:0.0:0.6952:0.1912	.	168;168	Q6H9L7-2;Q6H9L7	.;ISM2_HUMAN	V	168;87;80;168;87	ENSP00000341490:A168V;ENSP00000395387:A87V;ENSP00000377289:A80V;ENSP00000420452:A168V	ENSP00000341490:A168V	A	-	2	0	ISM2	77020543	0.000000	0.05858	0.031000	0.17742	0.344000	0.29017	0.061000	0.14366	1.496000	0.48567	0.306000	0.20318	GCA		0.612	ISM2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000351309.1	NM_182509		28	39	0	0	0	1	0	28	39					A	77950790	G	A	77950790	3	1	347	1	0	0	0	0	1	0	0	0	7861	1319	46	3	1232	3	ISM2	14	77950790	Missense_Mutation	SNP	G	TCGA-KK-A8IK-01A-11D-A364-08	39889590	77950790	29398750	29	17534											
GOLGA6C	653641	broad.mit.edu	37	chr15	75562493	75562493	+	Missense_Mutation	SNP	C	C	A																															gttctccccatgacaaccccCcggtacagcagatcgtgcag																								rs201864661		TCGA-KK-A8IK-01A-11D-A364-08	TCGA-KK-A8IK-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	640ab7e7-1e44-444d-b470-196a000a9958	3a8cd4b7-4379-4fcc-b252-6c053077a0d8	g.chr15:75562493C>A	ENST00000300576.5	+	18	2035	c.2035C>A	c.(2035-2037)Ccg>Acg	p.P679T	RN7SL489P_ENST00000486185.2_RNA	NM_001164404.1	NP_001157876.1	A6NDK9	GOG6C_HUMAN	golgin A6 family, member C	679						Golgi apparatus (GO:0005794)				ovary(1)	1						TGACAACCCCCCGGTACAGCA	0.602																																						ENST00000300576.5																			0				ovary(1)	1						c.(2035-2037)Ccg>Acg		golgin A6 family, member C																																				SO:0001583	missense	653641							g.chr15:75562493C>A		CCDS58388.1	15q24.2	2014-02-12	2010-02-12		ENSG00000167195	ENSG00000167195			32206	protein-coding gene	gene with protein product			"golgi autoantigen, golgin subfamily a, 6C"				Standard	NM_001164404		Approved		uc002azs.2	A6NDK9	OTTHUMG00000172671	ENST00000300576.5:c.2035C>A	15.37:g.75562493C>A	ENSP00000300576:p.Pro679Thr						p.P679T	NM_001164404.1	NP_001157876.1	A6NDK9	GOG6C_HUMAN			18	2035	+			679						Missense_Mutation	SNP	ENST00000300576.5	37	c.2035C>A	CCDS58388.1	.	.	.	.	.	.	.	.	.	.	-	0.005	-2.235243	0.00277	.	.	ENSG00000167195	ENST00000300576	T	0.12465	2.68	.	.	.	.	.	.	.	.	T	0.01254	0.0041	N	0.00012	-2.95	0.09310	N	0.999997	B	0.02656	0.0	B	0.01281	0.0	T	0.34179	-0.9839	8	0.02654	T	1	.	4.0506	0.09793	0.6453:0.3546:1.0E-4:0.0	.	679	A6NDK9	GOG6C_HUMAN	T	679	ENSP00000300576:P679T	ENSP00000300576:P679T	P	+	1	0	GOLGA6C	73349546	1.000000	0.71417	0.004000	0.12327	0.004000	0.04260	3.804000	0.55568	-1.404000	0.02050	-1.477000	0.00996	CCG		0.602	GOLGA6C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419797.1	NM_001164404		6	56	1	0	0.0215528	1	0.0219926	6	56					A	75562493	C	A	75562493	3	1	347	1	0	0	0	0	1	0	0	0	6559	623	22	5	2105	5	GOLGA6C	15	75562493	Missense_Mutation	SNP	C	TCGA-KK-A8IK-01A-11D-A364-08		75562493	26968899	30	17535	89	2									
GOLGA6C	653641	broad.mit.edu	37	chr15	75562495	75562495	+	Silent	SNP	G	G	T																															tctccccatgacaaccccccGgtacagcagatcgtgcagct																								rs138154232	byFrequency	TCGA-KK-A8IK-01A-11D-A364-08	TCGA-KK-A8IK-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	640ab7e7-1e44-444d-b470-196a000a9958	3a8cd4b7-4379-4fcc-b252-6c053077a0d8	g.chr15:75562495G>T	ENST00000300576.5	+	18	2037	c.2037G>T	c.(2035-2037)ccG>ccT	p.P679P	RN7SL489P_ENST00000486185.2_RNA	NM_001164404.1	NP_001157876.1	A6NDK9	GOG6C_HUMAN	golgin A6 family, member C	679						Golgi apparatus (GO:0005794)				ovary(1)	1						ACAACCCCCCGGTACAGCAGA	0.602													N|||	184	0.0367412	0.1339	0.0086	5008	,	,		17187	0		0.001	False		,,,				2504	0					ENST00000300576.5																			0				ovary(1)	1						c.(2035-2037)ccG>ccT		golgin A6 family, member C							52	65	61					15																	75562495		652	1575	2227	SO:0001819	synonymous_variant	653641							g.chr15:75562495G>T		CCDS58388.1	15q24.2	2014-02-12	2010-02-12		ENSG00000167195	ENSG00000167195			32206	protein-coding gene	gene with protein product			"golgi autoantigen, golgin subfamily a, 6C"				Standard	NM_001164404		Approved		uc002azs.2	A6NDK9	OTTHUMG00000172671	ENST00000300576.5:c.2037G>T	15.37:g.75562495G>T							p.P679P	NM_001164404.1	NP_001157876.1	A6NDK9	GOG6C_HUMAN			18	2037	+			679						Silent	SNP	ENST00000300576.5	37	c.2037G>T	CCDS58388.1																																																																																				0.602	GOLGA6C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419797.1	NM_001164404		6	60	1	0	3.59834e-05	1	3.91123e-05	6	60					T	75562495	G	T	75562495	2	4	347	1	0	0	0	0	0	0	0	1	6559	1103	39	5		5	GOLGA6C	15	75562495	Silent	SNP	G	TCGA-KK-A8IK-01A-11D-A364-08	2	75562495	26968897	31	17536	89	2									
BLM	641	broad.mit.edu	37	chr15	91346839	91346839	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gaaagactttttaaaaagctGatacttgacaagattttgga	16	13	8	4	0	0	4	0	2	0	2	0	6	0	5	0	1	2	1	0	1	6	7			TCGA-KK-A8IK-01A-11D-A364-08	TCGA-KK-A8IK-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	640ab7e7-1e44-444d-b470-196a000a9958	3a8cd4b7-4379-4fcc-b252-6c053077a0d8	g.chr15:91346839G>A	ENST00000355112.3	+	18	3565	c.3447G>A	c.(3445-3447)ctG>ctA	p.L1149L	BLM_ENST00000560136.1_3'UTR|BLM_ENST00000560509.1_Intron	NM_000057.2	NP_000048.1	P54132	BLM_HUMAN	Bloom syndrome, RecQ helicase-like	1149					alpha-beta T cell differentiation (GO:0046632)|ATP catabolic process (GO:0006200)|cellular response to camptothecin (GO:0072757)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to hydroxyurea (GO:0072711)|cellular response to ionizing radiation (GO:0071479)|DNA double-strand break processing (GO:0000729)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA strand renaturation (GO:0000733)|double-strand break repair via homologous recombination (GO:0000724)|mitotic G2 DNA damage checkpoint (GO:0007095)|negative regulation of cell division (GO:0051782)|negative regulation of DNA recombination (GO:0045910)|negative regulation of mitotic recombination (GO:0045950)|negative regulation of thymocyte apoptotic process (GO:0070244)|positive regulation of alpha-beta T cell proliferation (GO:0046641)|positive regulation of transcription, DNA-templated (GO:0045893)|protein oligomerization (GO:0051259)|regulation of binding (GO:0051098)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|replication fork processing (GO:0031297)|replication fork protection (GO:0048478)|response to X-ray (GO:0010165)|telomere maintenance (GO:0000723)	cytoplasm (GO:0005737)|lateral element (GO:0000800)|male germ cell nucleus (GO:0001673)|nuclear chromosome (GO:0000228)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleus (GO:0005634)|PML body (GO:0016605)|pronucleus (GO:0045120)|replication fork (GO:0005657)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|ATP-dependent 3'-5' DNA helicase activity (GO:0043140)|ATP-dependent DNA helicase activity (GO:0004003)|ATP-dependent helicase activity (GO:0008026)|ATPase activity (GO:0016887)|bubble DNA binding (GO:0000405)|four-way junction helicase activity (GO:0009378)|G-quadruplex DNA binding (GO:0051880)|helicase activity (GO:0004386)|p53 binding (GO:0002039)|single-stranded DNA binding (GO:0003697)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(11)|liver(4)|lung(9)|ovary(6)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	Lung NSC(78;0.0875)|all_lung(78;0.109)		Lung(145;0.189)			TTAAAAAGCTGATACTTGACA	0.378			"Mis, N, F"			"leukemia, lymphoma, skin squamous cell , other cancers"		Genes defective in diseases associated with sensitivity to DNA damaging agents	Bloom syndrome																													ENST00000355112.3			yes	Rec		Bloom Syndrome	15	15q26.1	641	"Mis, N, F"	Bloom Syndrome			"L, E"		"leukemia, lymphoma, skin squamous cell , other cancers"			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(11)|liver(4)|lung(9)|ovary(6)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						c.(3445-3447)ctG>ctA	Genes defective in diseases associated with sensitivity to DNA damaging agents	Bloom syndrome, RecQ helicase-like							92	92	92					15																	91346839		2198	4298	6496	SO:0001819	synonymous_variant	641	Bloom syndrome	Familial Cancer Database		double-strand break repair via homologous recombination|G2 phase of mitotic cell cycle|G2/M transition DNA damage checkpoint|negative regulation of cell division|positive regulation of transcription, DNA-dependent|protein oligomerization|regulation of cyclin-dependent protein kinase activity|replication fork processing|replication fork protection|response to X-ray	cytoplasm|lateral element|nuclear matrix|nucleolus|PML body	ATP binding|bubble DNA binding|DNA strand annealing activity|four-way junction helicase activity|G-quadruplex DNA binding|p53 binding	g.chr15:91346839G>A	U39817	CCDS10363.1, CCDS73782.1	15q26.1	2014-09-17	2009-03-19		ENSG00000197299	ENSG00000197299			1058	protein-coding gene	gene with protein product		604610	"Bloom syndrome"			9388193	Standard	NM_000057		Approved	BS, RECQL3, RECQ2	uc002bpr.3	P54132	OTTHUMG00000149834	ENST00000355112.3:c.3447G>A	15.37:g.91346839G>A						BLM_ENST00000560509.1_Intron|BLM_ENST00000560136.1_3'UTR	p.L1149L	NM_000057.2	NP_000048.1	P54132	BLM_HUMAN	Lung(145;0.189)		18	3565	+	Lung NSC(78;0.0875)|all_lung(78;0.109)		1149					Q52M96	Silent	SNP	ENST00000355112.3	37	c.3447G>A	CCDS10363.1																																																																																				0.378	BLM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313495.1			21	71	0	0	0	1	0	21	71					A	91346839	G	A	91346839	2	1	347	1	0	0	0	0	0	0	0	1	1445	1277	45	3		3	BLM	15	91346839	Silent	SNP	G	TCGA-KK-A8IK-01A-11D-A364-08	15784344	91346839	11184553	32	17537											
SPOP	8405	broad.mit.edu	37	chr17	47696426	47696426	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tctacggatgaatttcttgaAtccccagtctttgccttgca	8	15	7	11	1	3	2	0	2	3	0	4	3	4	3	3	1	3	1	3	1	3	5			TCGA-KK-A8IK-01A-11D-A364-08	TCGA-KK-A8IK-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	640ab7e7-1e44-444d-b470-196a000a9958	3a8cd4b7-4379-4fcc-b252-6c053077a0d8	g.chr17:47696426A>C	ENST00000393328.2	-	6	762	c.397T>G	c.(397-399)Ttc>Gtc	p.F133V	SPOP_ENST00000503676.1_Missense_Mutation_p.F133V|SPOP_ENST00000393331.3_Missense_Mutation_p.F133V|SPOP_ENST00000347630.2_Missense_Mutation_p.F133V|SPOP_ENST00000504102.1_Missense_Mutation_p.F133V|SPOP_ENST00000513080.1_5'Flank	NM_003563.3	NP_003554.1	O43791	SPOP_HUMAN	speckle-type POZ protein	133	Important for binding substrate proteins.|MATH. {ECO:0000255|PROSITE- ProRule:PRU00129}.|Required for nuclear localization.				glucose homeostasis (GO:0042593)|positive regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902237)|positive regulation of type B pancreatic cell apoptotic process (GO:2000676)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	Cul3-RING ubiquitin ligase complex (GO:0031463)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	ubiquitin protein ligase binding (GO:0031625)	p.F133V(4)		endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						AATTTCTTGAATCCCCAGTCT	0.448										Prostate(2;0.17)																												ENST00000393331.3																			4	Substitution - Missense(4)	p.F133V(4)	prostate(4)	endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						c.(397-399)Ttc>Gtc		speckle-type POZ protein							119	121	120					17																	47696426		2203	4300	6503	SO:0001583	missense	8405				mRNA processing	nucleus	protein binding	g.chr17:47696426A>C	AJ000644	CCDS11551.1	17q21.33	2013-01-09			ENSG00000121067	ENSG00000121067		"BTB/POZ domain containing"	11254	protein-coding gene	gene with protein product		602650				9414087	Standard	NM_001007227		Approved	TEF2, BTBD32	uc002ipg.3	O43791	OTTHUMG00000161496	ENST00000393328.2:c.397T>G	17.37:g.47696426A>C	ENSP00000377001:p.Phe133Val	Prostate(2;0.17)				SPOP_ENST00000504102.1_Missense_Mutation_p.F133V|SPOP_ENST00000347630.2_Missense_Mutation_p.F133V|SPOP_ENST00000503676.1_Missense_Mutation_p.F133V|SPOP_ENST00000393328.2_Missense_Mutation_p.F133V	p.F133V	NM_001007226.1|NM_001007227.1	NP_001007227.1|NP_001007228.1	O43791	SPOP_HUMAN			7	867	-			133			MATH.|Required for nuclear localization.		B2R6S3|D3DTW7|Q53HJ1	Missense_Mutation	SNP	ENST00000393328.2	37	c.397T>G	CCDS11551.1	.	.	.	.	.	.	.	.	.	.	A	24.6	4.550963	0.86127	.	.	ENSG00000121067	ENST00000393328;ENST00000393331;ENST00000347630;ENST00000504102;ENST00000503536;ENST00000503676;ENST00000513872;ENST00000509079;ENST00000505581;ENST00000507970;ENST00000514121	T;T;T;T;T;T;T;T;T	0.42513	0.97;0.97;0.97;0.97;0.97;0.97;0.97;0.97;0.97	5.41	5.41	0.78517	TRAF-type (1);TRAF-like (1);MATH (3);	0.000000	0.85682	D	0.000000	T	0.68632	0.3022	M	0.94021	3.485	0.80722	D	1	P	0.35155	0.487	P	0.49637	0.617	T	0.74861	-0.3520	10	0.66056	D	0.02	-9.6576	15.258	0.73599	1.0:0.0:0.0:0.0	.	133	O43791	SPOP_HUMAN	V	133;133;133;133;17;133;86;133;133;133;133	ENSP00000377001:F133V;ENSP00000377004:F133V;ENSP00000240327:F133V;ENSP00000425905:F133V;ENSP00000420908:F133V;ENSP00000426986:F133V;ENSP00000420960:F133V;ENSP00000426262:F133V;ENSP00000424119:F133V	ENSP00000240327:F133V	F	-	1	0	SPOP	45051425	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.131000	0.94446	2.261000	0.74972	0.460000	0.39030	TTC		0.448	SPOP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365154.2	NM_003563		39	62	0	0	0	1	0	39	62					C	47696426	A	C	47696426	3	2	347	1	0	0	0	0	1	0	0	0	15083	101	4	5	751	5	SPOP	17	47696426	Missense_Mutation	SNP	A	TCGA-KK-A8IK-01A-11D-A364-08		47696426	33498784	33	17538											
EIF3G	5032	broad.mit.edu	37	chr19	10226166	10226166	+	IGR	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gagtcttacttggcccactcGacgttgaggatgaggtggtc	7	11	14	9	2	1	2	0	2	1	0	3	5	1	3	1	4	1	1	1	4	1	3	rs149739513		TCGA-KK-A8IK-01A-11D-A364-08	TCGA-KK-A8IK-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	640ab7e7-1e44-444d-b470-196a000a9958	3a8cd4b7-4379-4fcc-b252-6c053077a0d8	g.chr19:10226166G>A	ENST00000321826.4	+	0	1943				EIF3G_ENST00000253108.4_Silent_p.V312V	NM_002566.4	NP_002557.2	Q96G91	P2Y11_HUMAN	purinergic receptor P2Y, G-protein coupled, 11						activation of adenylate cyclase activity (GO:0007190)|adenosine receptor signaling pathway (GO:0001973)|calcium-mediated signaling (GO:0019722)|cellular response to ATP (GO:0071318)|defense response (GO:0006952)|G-protein coupled receptor signaling pathway (GO:0007186)|neuronal signal transduction (GO:0023041)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP-activated nucleotide receptor activity (GO:0045031)|G-protein coupled purinergic nucleotide receptor activity (GO:0045028)|neurotransmitter receptor activity (GO:0030594)|receptor activity (GO:0004872)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(2)	16			OV - Ovarian serous cystadenocarcinoma(20;3.53e-09)|Epithelial(33;4.91e-06)|all cancers(31;1.1e-05)			TGGCCCACTCGACGTTGAGGA	0.627													G|||	1	0.000199681	0	0	5008	,	,		14434	0		0	False		,,,				2504	0.001					ENST00000253108.4																			0				central_nervous_system(1)|lung(1)	2						c.(934-936)gtC>gtT		eukaryotic translation initiation factor 3, subunit G		G		0,4406		0,0,2203	74	75	74		936	-7.9	0.7	19	dbSNP_134	74	4,8596	3.7+/-12.6	0,4,4296	no	coding-synonymous	EIF3G	NM_003755.3		0,4,6499	AA,AG,GG		0.0465,0.0,0.0308		312/321	10226166	4,13002	2203	4300	6503	SO:0001628	intergenic_variant	8666					cytosol|eukaryotic translation initiation factor 3 complex|nucleus|perinuclear region of cytoplasm	nucleotide binding|protein binding|translation initiation factor activity	g.chr19:10226166G>A	AF030335	CCDS12226.1	19p13.2	2012-08-08			ENSG00000244165	ENSG00000244165		"Purinergic receptors", "GPCR / Class A : Purinergic receptors, P2Y"	8540	protein-coding gene	gene with protein product		602697				9405388	Standard	NM_002566		Approved	P2Y11		Q96G91	OTTHUMG00000150166		19.37:g.10226166G>A							p.V312V	NM_003755.3	NP_003746.2	O75821	EIF3G_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;3.53e-09)|Epithelial(33;4.91e-06)|all cancers(31;1.1e-05)		10	978	-			312			RRM.		B2R8X9|O43190|Q9BYU4|Q9H170	Silent	SNP	ENST00000321826.4	37	c.936C>T	CCDS12226.1																																																																																				0.627	P2RY11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316664.2	NM_002566		12	26	0	0	0	1	0	12	26					A	10226166	G	A	10226166	1	1	347	0	1	0	0	0	0	0	0	0	5017	1045	37	2		2	EIF3G	19	10226166	IGR	SNP	G	TCGA-KK-A8IK-01A-11D-A364-08		10226166	48902817	34	17539											
CACNA1A	773	broad.mit.edu	37	chr19	13323529	13323529	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttggggacgggggctccatgCgctggaacatgaggggtgtc	6	8	19	8	2	0	1	0	1	0	0	2	3	1	3	1	7	2	2	1	7	1	1			TCGA-KK-A8IK-01A-11D-A364-08	TCGA-KK-A8IK-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	640ab7e7-1e44-444d-b470-196a000a9958	3a8cd4b7-4379-4fcc-b252-6c053077a0d8	g.chr19:13323529C>T	ENST00000360228.5	-	41	5965	c.5966G>A	c.(5965-5967)cGc>cAc	p.R1989H	CACNA1A_ENST00000573710.2_Missense_Mutation_p.R1990H	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	1990					adult walking behavior (GO:0007628)|behavioral response to pain (GO:0048266)|calcium ion import (GO:0070509)|calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cell death (GO:0008219)|cell growth (GO:0016049)|cellular chloride ion homeostasis (GO:0030644)|cerebellar molecular layer development (GO:0021679)|cerebellar Purkinje cell differentiation (GO:0021702)|cerebellum maturation (GO:0021590)|dendrite morphogenesis (GO:0048813)|energy reserve metabolic process (GO:0006112)|gamma-aminobutyric acid secretion (GO:0014051)|gamma-aminobutyric acid signaling pathway (GO:0007214)|glucose metabolic process (GO:0006006)|hormone metabolic process (GO:0042445)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|musculoskeletal movement, spinal reflex action (GO:0050883)|negative regulation of hormone biosynthetic process (GO:0032353)|negative regulation of neuron apoptotic process (GO:0043524)|neuromuscular process controlling balance (GO:0050885)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter metabolic process (GO:0042133)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|receptor clustering (GO:0043113)|regulation of acetylcholine secretion, neurotransmission (GO:0014056)|regulation of axonogenesis (GO:0050770)|regulation of calcium ion-dependent exocytosis (GO:0017158)|regulation of insulin secretion (GO:0050796)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|spinal cord motor neuron differentiation (GO:0021522)|sulfur amino acid metabolic process (GO:0000096)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transmission of nerve impulse (GO:0019226)|vestibular nucleus development (GO:0021750)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|syntaxin binding (GO:0019905)|voltage-gated calcium channel activity (GO:0005245)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Loperamide(DB00836)|Pregabalin(DB00230)|Spironolactone(DB00421)|Verapamil(DB00661)	GGGCTCCATGCGCTGGAACAT	0.667																																						ENST00000360228.5																			0				breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42						c.(5965-5967)cGc>cAc		calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)						13	15	14					19																	13323529		2081	4181	6262	SO:0001583	missense	773				cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding	g.chr19:13323529C>T	U79666	CCDS45998.1, CCDS45999.1	19p13	2014-09-17			ENSG00000141837	ENSG00000141837		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1388	protein-coding gene	gene with protein product		601011		CACNL1A4, SCA6, MHP1, MHP		8825650, 16382099, 23827678	Standard	NM_000068		Approved	Cav2.1, EA2, APCA, HPCA, FHM	uc010xne.2	O00555	OTTHUMG00000044590	ENST00000360228.5:c.5966G>A	19.37:g.13323529C>T	ENSP00000353362:p.Arg1989His					CACNA1A_ENST00000573710.2_Missense_Mutation_p.R1990H	p.R1989H	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		41	5965	-			1990					J3KP41|P78510|P78511|Q16290|Q92690|Q99790|Q99791|Q99792|Q99793|Q9NS88|Q9UDC4	Missense_Mutation	SNP	ENST00000360228.5	37	c.5966G>A	CCDS45998.1	.	.	.	.	.	.	.	.	.	.	C	11.04	1.521884	0.27211	.	.	ENSG00000141837	ENST00000360228;ENST00000418012;ENST00000357018;ENST00000325084	D	0.96300	-3.97	4.54	3.47	0.39725	.	0.664726	0.13205	N	0.405623	D	0.97424	0.9157	M	0.66939	2.045	0.52501	D	0.999957	D;D;D;D	0.89917	1.0;0.999;0.998;0.999	D;D;P;D	0.71870	0.962;0.975;0.818;0.943	D	0.95940	0.8946	10	0.62326	D	0.03	.	12.6205	0.56600	0.1676:0.8324:0.0:0.0	.	1990;1995;1989;1990	O00555;E9PD31;Q9NS88;E7EVF2	CAC1A_HUMAN;.;.;.	H	1989;1995;1990;1990	ENSP00000353362:R1989H	ENSP00000317661:R1990H	R	-	2	0	CACNA1A	13184529	1.000000	0.71417	1.000000	0.80357	0.007000	0.05969	7.276000	0.78559	0.879000	0.35944	-0.500000	0.04577	CGC		0.667	CACNA1A-001	KNOWN	non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000104062.2	NM_000068		8	4	0	0	0	1	0	8	4					T	13323529	C	T	13323529	3	4	347	1	0	0	0	0	1	0	0	0	2538	768	27	1	1582	1	CACNA1A	19	13323529	Missense_Mutation	SNP	C	TCGA-KK-A8IK-01A-11D-A364-08	3097363	13323529	45805454	35	17540											
FCGBP	8857	broad.mit.edu	37	chr19	40433869	40433869	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcctagggcctggatgggccGcagcagtgtcagctccgctg	5	7	16	13	2	1	0	1	0	0	0	2	1	2	1	4	3	2	4	4	3	1	1			TCGA-KK-A8IK-01A-11D-A364-08	TCGA-KK-A8IK-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	640ab7e7-1e44-444d-b470-196a000a9958	3a8cd4b7-4379-4fcc-b252-6c053077a0d8	g.chr19:40433869G>A	ENST00000221347.6	-	2	407	c.400C>T	c.(400-402)Cgg>Tgg	p.R134W		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	134	IgGFc-binding.					extracellular vesicular exosome (GO:0070062)				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			TGGATGGGCCGCAGCAGTGTC	0.597																																						ENST00000221347.6																			0				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165						c.(400-402)Cgg>Tgg		Fc fragment of IgG binding protein							64	54	57					19																	40433869		2203	4300	6503	SO:0001583	missense	8857					extracellular region	protein binding	g.chr19:40433869G>A	D84239		19q13.2	2013-09-20			ENSG00000090920	ENSG00000275395			13572	protein-coding gene	gene with protein product	"IgG Fc binding protein", "Human Fc gamma BP"					9182547	Standard	NM_003890		Approved	FC(GAMMA)BP	uc002omp.4	Q9Y6R7	OTTHUMG00000182580	ENST00000221347.6:c.400C>T	19.37:g.40433869G>A	ENSP00000221347:p.Arg134Trp						p.R134W	NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)		2	407	-	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		134			IgGFc-binding.		O95784	Missense_Mutation	SNP	ENST00000221347.6	37	c.400C>T	CCDS12546.1	.	.	.	.	.	.	.	.	.	.	G	6.404	0.442631	0.12164	.	.	ENSG00000090920	ENST00000221347	T	0.18338	2.22	4.13	-8.27	0.01017	.	0.899723	0.09194	N	0.835531	T	0.04137	0.0115	N	0.00926	-1.1	0.09310	N	1	B	0.12630	0.006	B	0.04013	0.001	T	0.45991	-0.9223	10	0.37606	T	0.19	.	8.3971	0.32564	0.6469:0.0:0.1439:0.2092	.	134	Q9Y6R7	FCGBP_HUMAN	W	134	ENSP00000221347:R134W	ENSP00000221347:R134W	R	-	1	2	FCGBP	45125709	0.000000	0.05858	0.000000	0.03702	0.294000	0.27393	-0.060000	0.11712	-1.660000	0.01486	0.655000	0.94253	CGG		0.597	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462507.1	NM_003890		3	47	0	0	0	1	0	3	47					A	40433869	G	A	40433869	3	1	347	1	0	0	0	0	1	0	0	0	5778	1086	38	1	15957	1	FCGBP	19	40433869	Missense_Mutation	SNP	G	TCGA-KK-A8IK-01A-11D-A364-08	27110340	40433869	18695114	36	17541											
ZNF230	7773	broad.mit.edu	37	chr19	44515050	44515050	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcaaatgtgaaatatgtggtAagagcttctgccttaggtca	12	13	10	6	0	3	2	2	1	1	1	3	2	3	2	1	2	2	2	1	2	5	4			TCGA-KK-A8IK-01A-11D-A364-08	TCGA-KK-A8IK-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	640ab7e7-1e44-444d-b470-196a000a9958	3a8cd4b7-4379-4fcc-b252-6c053077a0d8	g.chr19:44515050A>G	ENST00000429154.2	+	5	1087	c.859A>G	c.(859-861)Aag>Gag	p.K287E		NM_006300.3	NP_006291.2	Q9UIE0	ZN230_HUMAN	zinc finger protein 230	287					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(10)|skin(1)|stomach(3)|urinary_tract(2)	22		Prostate(69;0.0352)				AATATGTGGTAAGAGCTTCTG	0.433																																					GBM(175;914 2069 22996 47111 52600)	ENST00000429154.2																			0				NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(10)|skin(1)|stomach(3)|urinary_tract(2)	22						c.(859-861)Aag>Gag		zinc finger protein 230							139	141	141					19																	44515050		2203	4300	6503	SO:0001583	missense	7773				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44515050A>G	U95044	CCDS33044.1	19q13.31	2013-01-08				ENSG00000159882		"Zinc fingers, C2H2-type", "-"	13024	protein-coding gene	gene with protein product							Standard	NM_006300		Approved	FDZF2	uc002oyb.1	Q9UIE0		ENST00000429154.2:c.859A>G	19.37:g.44515050A>G	ENSP00000409318:p.Lys287Glu						p.K287E	NM_006300.3	NP_006291.2	Q9UIE0	ZN230_HUMAN			5	1087	+		Prostate(69;0.0352)	287					O15322|Q504X7|Q86W84|Q9P1U6	Missense_Mutation	SNP	ENST00000429154.2	37	c.859A>G	CCDS33044.1	.	.	.	.	.	.	.	.	.	.	A	15.36	2.811174	0.50527	.	.	ENSG00000159882	ENST00000429154	T	0.27104	1.69	2.55	2.55	0.30701	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.35219	0.0924	M	0.72118	2.19	0.80722	D	1	P	0.43519	0.809	P	0.48304	0.573	T	0.27331	-1.0077	9	0.87932	D	0	.	9.6854	0.40096	1.0:0.0:0.0:0.0	.	287	Q9UIE0	ZN230_HUMAN	E	287	ENSP00000409318:K287E	ENSP00000409318:K287E	K	+	1	0	ZNF230	49206890	0.129000	0.22400	0.029000	0.17559	0.463000	0.32649	0.856000	0.27818	1.149000	0.42402	0.172000	0.16884	AAG		0.433	ZNF230-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460456.1			54	63	0	0	0	1	0	54	63					G	44515050	A	G	44515050	3	3	347	1	0	0	0	0	1	0	0	0	17781	363	13	4	873	4	ZNF230	19	44515050	Missense_Mutation	SNP	A	TCGA-KK-A8IK-01A-11D-A364-08	4081181	44515050	14613933	37	17542											
CDH22	64405	broad.mit.edu	37	chr20	44869670	44869670	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcggggctcactgtcattgAtgtcctgcaccttgatgatg	7	12	12	10	1	2	3	2	3	0	0	3	3	3	3	2	2	2	2	2	2	0	2			TCGA-KK-A8IK-01A-11D-A364-08	TCGA-KK-A8IK-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	640ab7e7-1e44-444d-b470-196a000a9958	3a8cd4b7-4379-4fcc-b252-6c053077a0d8	g.chr20:44869670A>C	ENST00000372262.3	-	2	882	c.482T>G	c.(481-483)aTc>aGc	p.I161S	CDH22_ENST00000537909.1_Missense_Mutation_p.I161S	NM_021248.1	NP_067071.1	Q9UJ99	CAD22_HUMAN	cadherin 22, type 2	161	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				brain development (GO:0007420)|calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(3)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	44		Myeloproliferative disorder(115;0.0122)				ACTGTCATTGATGTCCTGCAC	0.642																																						ENST00000372262.3																			0				endometrium(3)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	44						c.(481-483)aTc>aGc		cadherin 22, type 2							80	60	67					20																	44869670		2203	4300	6503	SO:0001583	missense	64405				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr20:44869670A>C	AF035300	CCDS13395.1	20q13.1	2010-01-26	2009-11-20		ENSG00000149654	ENSG00000149654		"Cadherins / Major cadherins"	13251	protein-coding gene	gene with protein product		609920	"cadherin-like 22"	C20orf25		8626716	Standard	NM_021248		Approved	dJ998H6.1	uc010ghk.2	Q9UJ99	OTTHUMG00000033073	ENST00000372262.3:c.482T>G	20.37:g.44869670A>C	ENSP00000361336:p.Ile161Ser					CDH22_ENST00000537909.1_Missense_Mutation_p.I161S	p.I161S	NM_021248.1	NP_067071.1	Q9UJ99	CAD22_HUMAN			2	882	-		Myeloproliferative disorder(115;0.0122)	161			Cadherin 1.		B9EGK7|O43205	Missense_Mutation	SNP	ENST00000372262.3	37	c.482T>G	CCDS13395.1	.	.	.	.	.	.	.	.	.	.	A	18.43	3.621278	0.66787	.	.	ENSG00000149654	ENST00000372262;ENST00000537909	T;T	0.67345	-0.26;-0.26	4.43	4.43	0.53597	Cadherin (3);Cadherin-like (1);	0.000000	0.85682	D	0.000000	D	0.82939	0.5146	M	0.87971	2.92	0.58432	D	0.999999	D	0.89917	1.0	D	0.83275	0.996	D	0.86258	0.1653	10	0.87932	D	0	.	13.3354	0.60515	1.0:0.0:0.0:0.0	.	161	Q9UJ99	CAD22_HUMAN	S	161	ENSP00000361336:I161S;ENSP00000437790:I161S	ENSP00000361336:I161S	I	-	2	0	CDH22	44303077	1.000000	0.71417	1.000000	0.80357	0.539000	0.34962	8.761000	0.91691	2.007000	0.58848	0.379000	0.24179	ATC		0.642	CDH22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080491.1	NM_021248		14	74	0	0	0	1	0	14	74					C	44869670	A	C	44869670	3	2	347	1	0	0	0	0	1	0	0	0	3107	333	12	5	2044	5	CDH22	20	44869670	Missense_Mutation	SNP	A	TCGA-KK-A8IK-01A-11D-A364-08		44869670	18155850	38	17543											
GTPBP5	26164	broad.mit.edu	37	chr20	60775813	60775813	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccgccttcctcaggcacatcGagcgctgccgctttctcttg	4	11	9	17	4	2	0	1	0	1	0	5	1	3	0	4	1	2	3	4	1	0	3			TCGA-KK-A8IK-01A-11D-A364-08	TCGA-KK-A8IK-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	640ab7e7-1e44-444d-b470-196a000a9958	3a8cd4b7-4379-4fcc-b252-6c053077a0d8	g.chr20:60775813G>A	ENST00000370823.3	+	7	919	c.901G>A	c.(901-903)Gag>Aag	p.E301K	MTG2_ENST00000536470.1_Missense_Mutation_p.E73K|MTG2_ENST00000436421.2_Missense_Mutation_p.E143K	NM_015666.3	NP_056481.1	Q9H4K7	MTG2_HUMAN	mitochondrial ribosome-associated GTPase 2	301	Localized in the mitochondria.|Not localized in the mitochondria.|OBG-type G.				GTP catabolic process (GO:0006184)|regulation of mitochondrial translation (GO:0070129)|regulation of respiratory system process (GO:0044065)|ribosome biogenesis (GO:0042254)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial ribosome (GO:0005761)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|magnesium ion binding (GO:0000287)										CAGGCACATCGAGCGCTGCCG	0.567																																						ENST00000370823.3																			0											c.(901-903)Gag>Aag		mitochondrial ribosome-associated GTPase 2							120	129	126					20																	60775813		2203	4300	6503	SO:0001583	missense	26164							g.chr20:60775813G>A	AK001603	CCDS13492.1	20q13.33	2013-05-24	2013-05-24	2013-05-24	ENSG00000101181	ENSG00000101181			16239	protein-coding gene	gene with protein product		610919	"GTP-binding protein 5 (putative)", "GTP binding protein 5 (putative)"	GTPBP5		17054726, 23396448	Standard	NM_015666		Approved	FLJ10741, dJ1005F21.2, ObgH1		Q9H4K7	OTTHUMG00000032897	ENST00000370823.3:c.901G>A	20.37:g.60775813G>A	ENSP00000359859:p.Glu301Lys					MTG2_ENST00000536470.1_Missense_Mutation_p.E73K|MTG2_ENST00000436421.2_Missense_Mutation_p.E143K	p.E301K	NM_015666.3	NP_056481.1					7	919	+								A6NDR3|B4DR85|Q96I17|Q9NVG9|Q9UFR4	Missense_Mutation	SNP	ENST00000370823.3	37	c.901G>A	CCDS13492.1	.	.	.	.	.	.	.	.	.	.	G	34	5.326814	0.95708	.	.	ENSG00000101181	ENST00000536470;ENST00000436421;ENST00000370823	T;T;T	0.18657	2.2;2.2;2.2	5.67	4.7	0.59300	Small GTP-binding protein domain (1);GTP1/OBG (1);GTP-binding domain, HSR1-related (1);	0.045089	0.85682	D	0.000000	T	0.49745	0.1575	M	0.82056	2.57	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.81914	0.995;0.995	T	0.57751	-0.7757	10	0.72032	D	0.01	-45.4164	16.4321	0.83853	0.0:0.1316:0.8684:0.0	.	143;301	E7EU10;Q9H4K7	.;GTPB5_HUMAN	K	73;143;301	ENSP00000445056:E73K;ENSP00000392267:E143K;ENSP00000359859:E301K	ENSP00000359859:E301K	E	+	1	0	GTPBP5	60209208	1.000000	0.71417	0.988000	0.46212	0.828000	0.46876	5.983000	0.70540	1.352000	0.45808	0.561000	0.74099	GAG		0.567	MTG2-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079989.1	NM_015666		119	195	0	0	0	1	0	119	195					A	60775813	G	A	60775813	3	1	347	1	0	0	0	0	1	0	0	0	6883	1059	37	2	923	2	GTPBP5	20	60775813	Missense_Mutation	SNP	G	TCGA-KK-A8IK-01A-11D-A364-08	15906143	60775813	2249707	39	17544											
TLR8	51311	broad.mit.edu	37	chrX	12939904	12939904	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cgagacaaaaacgttctcctTtgtctagaggagagggattg	12	10	12	7	2	2	3	0	0	2	3	3	6	2	4	1	2	1	1	1	2	3	4			TCGA-KK-A8IK-01A-11D-A364-08	TCGA-KK-A8IK-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	640ab7e7-1e44-444d-b470-196a000a9958	3a8cd4b7-4379-4fcc-b252-6c053077a0d8	g.chrX:12939904T>G	ENST00000218032.6	+	2	2832	c.2745T>G	c.(2743-2745)ctT>ctG	p.L915L	TLR8_ENST00000311912.5_Silent_p.L933L	NM_138636.4	NP_619542.1	Q9NR97	TLR8_HUMAN	toll-like receptor 8	915	TIR. {ECO:0000255|PROSITE- ProRule:PRU00204}.				cellular response to mechanical stimulus (GO:0071260)|defense response to virus (GO:0051607)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|immunoglobulin mediated immune response (GO:0016064)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|microglial cell activation involved in immune response (GO:0002282)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of innate immune response (GO:0045089)|positive regulation of interferon-alpha biosynthetic process (GO:0045356)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|positive regulation of interleukin-8 biosynthetic process (GO:0045416)|regulation of cytokine secretion (GO:0050707)|response to virus (GO:0009615)|toll-like receptor 8 signaling pathway (GO:0034158)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	endolysosome membrane (GO:0036020)|endoplasmic reticulum membrane (GO:0005789)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|drug binding (GO:0008144)|receptor activity (GO:0004872)|RNA binding (GO:0003723)|single-stranded RNA binding (GO:0003727)			breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50					Imiquimod(DB00724)	ACGTTCTCCTTTGTCTAGAGG	0.443																																						ENST00000218032.6																			0				breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						c.(2743-2745)ctT>ctG		toll-like receptor 8							89	91	90					X																	12939904		2202	4300	6502	SO:0001819	synonymous_variant	51311				cellular response to mechanical stimulus|defense response to virus|I-kappaB kinase/NF-kappaB cascade|immunoglobulin mediated immune response|inflammatory response|innate immune response|positive regulation of innate immune response|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process	endosome membrane	DNA binding|double-stranded RNA binding|single-stranded RNA binding|transmembrane receptor activity	g.chrX:12939904T>G	AF246971	CCDS14152.1, CCDS14153.1	Xp22	2009-11-23			ENSG00000101916	ENSG00000101916		"CD molecules"	15632	protein-coding gene	gene with protein product		300366				11022119	Standard	NM_138636		Approved	CD288	uc004cve.3	Q9NR97	OTTHUMG00000021145	ENST00000218032.6:c.2745T>G	X.37:g.12939904T>G						TLR8_ENST00000311912.5_Silent_p.L933L	p.L915L	NM_138636.4	NP_619542.1	Q9NR97	TLR8_HUMAN			2	2832	+			915			TIR.		B3Y654|D1CS70|D1CS76|Q495P4|Q6UXL6|Q9NYG9	Silent	SNP	ENST00000218032.6	37	c.2745T>G	CCDS14152.1																																																																																				0.443	TLR8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055784.2	NM_016610		50	2	0	0	0	1	0	50	2					G	12939904	T	G	12939904	2	3	347	1	0	0	0	0	0	0	0	1	15954	1828	64	5		5	TLR8	23	12939904	Silent	SNP	T	TCGA-KK-A8IK-01A-11D-A364-08		12939904	142330656	40	17545											
MAOA	4128	broad.mit.edu	37	chrX	43591988	43591988	+	Frame_Shift_Del	DEL	T	T	-																															tgaagatgaagatgctccaaTttcaataaccttggatgaca																										TCGA-KK-A8IK-01A-11D-A364-08	TCGA-KK-A8IK-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	640ab7e7-1e44-444d-b470-196a000a9958	3a8cd4b7-4379-4fcc-b252-6c053077a0d8	g.chrX:43591988delT	ENST00000338702.3	+	9	1121	c.998delT	c.(997-999)attfs	p.I333fs	MAOA_ENST00000542639.1_Frame_Shift_Del_p.I200fs	NM_000240.3	NP_000231.1	P21397	AOFA_HUMAN	monoamine oxidase A	333					cellular biogenic amine metabolic process (GO:0006576)|dopamine catabolic process (GO:0042420)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter catabolic process (GO:0042135)|neurotransmitter secretion (GO:0007269)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|xenobiotic metabolic process (GO:0006805)	integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	primary amine oxidase activity (GO:0008131)			NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	18					Almotriptan(DB00918)|Dopamine(DB00988)|Ephedra(DB01363)|Flavin adenine dinucleotide(DB03147)|Furazolidone(DB00614)|Isocarboxazid(DB01247)|Linezolid(DB00601)|Methamphetamine(DB01577)|Minaprine(DB00805)|Moclobemide(DB01171)|Nandrolone decanoate(DB08804)|Naratriptan(DB00952)|Nicotine(DB00184)|Pargyline(DB01626)|Phenelzine(DB00780)|Phentermine(DB00191)|Phenylephrine(DB00388)|Phenylpropanolamine(DB00397)|Procaine(DB00721)|Pseudoephedrine(DB00852)|Riboflavin(DB00140)|Rizatriptan(DB00953)|Selegiline(DB01037)|Sertraline(DB01104)|Sumatriptan(DB00669)|Testosterone(DB00624)|Tranylcypromine(DB00752)|Zolmitriptan(DB00315)|Zonisamide(DB00909)	GATGCTCCAATTTCAATAACC	0.443																																						ENST00000338702.3																			0				NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	18						c.(997-999)atfs		monoamine oxidase A	Almotriptan(DB00918)|Carbidopa(DB00190)|Clonazepam(DB01068)|Dopamine(DB00988)|Fluvoxamine(DB00176)|Ginkgo biloba(DB01381)|Imipramine(DB00458)|Isocarboxazid(DB01247)|Levodopa(DB01235)|Linezolid(DB00601)|Lorazepam(DB00186)|Moclobemide(DB01171)|Nicotine(DB00184)|Norepinephrine(DB00368)|Phenelzine(DB00780)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Phenylephrine(DB00388)|Phenylpropanolamine(DB00397)|Pseudoephedrine(DB00852)|Rasagiline(DB01367)|Riboflavin(DB00140)|Rizatriptan(DB00953)|Selegiline(DB01037)|Sumatriptan(DB00669)|Testosterone(DB00624)|Tranylcypromine(DB00752)|Zolmitriptan(DB00315)						157	136	143					X																	43591988		2203	4300	6503	SO:0001589	frameshift_variant	4128				behavior|neurotransmitter biosynthetic process|neurotransmitter catabolic process|neurotransmitter secretion|xenobiotic metabolic process	integral to membrane|mitochondrial outer membrane	primary amine oxidase activity|protein binding	g.chrX:43591988delT		CCDS14260.1, CCDS59163.1	Xp11.4-p11.3	2008-02-05			ENSG00000189221	ENSG00000189221	1.4.3.4		6833	protein-coding gene	gene with protein product		309850					Standard	NM_000240		Approved		uc004dfy.4	P21397	OTTHUMG00000021387	ENST00000338702.3:c.998delT	X.37:g.43591988delT	ENSP00000340684:p.Ile333fs					MAOA_ENST00000542639.1_Frame_Shift_Del_p.I200fs	p.I333fs	NM_000240.3	NP_000231.1	P21397	AOFA_HUMAN			9	1121	+			333					B4DF46|Q16426	Frame_Shift_Del	DEL	ENST00000338702.3	37	c.998delT	CCDS14260.1																																																																																				0.443	MAOA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056300.1	NM_000240		65	6						65	6	---	---	---	---	-	43591988	T	-	43591988	7	5	347	1	0	1	0	1	0	0	0	0	9225	1493	52	0	1032	0	MAOA	23	43591988	Frame_Shift_Del	DEL	T	TCGA-KK-A8IK-01A-11D-A364-08	30652084	43591988	111678572	41	17546											
CPXCR1	53336	broad.mit.edu	37	chrX	88009169	88009169	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaagtatttttaatataaaaGgttttgtggatatattgaca	16	17	7	1	0	0	1	0	1	0	0	0	2	0	2	0	2	0	2	0	2	8	11			TCGA-KK-A8IK-01A-11D-A364-08	TCGA-KK-A8IK-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	640ab7e7-1e44-444d-b470-196a000a9958	3a8cd4b7-4379-4fcc-b252-6c053077a0d8	g.chrX:88009169G>T	ENST00000276127.4	+	3	1013	c.754G>T	c.(754-756)Ggt>Tgt	p.G252C	CPXCR1_ENST00000373111.1_Missense_Mutation_p.G252C	NM_033048.5	NP_149037	Q8N123	CPXCR_HUMAN	CPX chromosome region, candidate 1	252							metal ion binding (GO:0046872)			NS(1)|cervix(1)|kidney(1)|large_intestine(11)|liver(1)|lung(20)|ovary(3)|upper_aerodigestive_tract(2)	40						TAATATAAAAGGTTTTGTGGA	0.338																																						ENST00000276127.4																			0				NS(1)|cervix(1)|kidney(1)|large_intestine(11)|liver(1)|lung(20)|ovary(3)|upper_aerodigestive_tract(2)	40						c.(754-756)Ggt>Tgt		CPX chromosome region, candidate 1							31	29	29					X																	88009169		2201	4294	6495	SO:0001583	missense	53336					intracellular	zinc ion binding	g.chrX:88009169G>T	AL031116	CCDS14458.1	Xq21.3	2009-08-06			ENSG00000147183	ENSG00000147183			2332	protein-coding gene	gene with protein product	"cancer/testis antigen 77"					11499681	Standard	NM_033048		Approved	CT77	uc004efc.4	Q8N123	OTTHUMG00000021950	ENST00000276127.4:c.754G>T	X.37:g.88009169G>T	ENSP00000276127:p.Gly252Cys					CPXCR1_ENST00000373111.1_Missense_Mutation_p.G252C	p.G252C	NM_033048.5	NP_149037.4	Q8N123	CPXCR_HUMAN			3	1013	+			252					B2R9F9|D3DTE7|Q96RS3	Missense_Mutation	SNP	ENST00000276127.4	37	c.754G>T	CCDS14458.1	.	.	.	.	.	.	.	.	.	.	G	11.26	1.585906	0.28268	.	.	ENSG00000147183	ENST00000276127;ENST00000373111	T;T	0.24723	1.84;1.84	3.57	-0.375	0.12509	.	1.642850	0.03711	N	0.250142	T	0.17789	0.0427	N	0.19112	0.55	0.09310	N	1	D	0.55605	0.972	P	0.45449	0.481	T	0.08066	-1.0740	9	.	.	.	-0.039	2.8188	0.05465	0.3647:0.0:0.4304:0.2049	.	252	Q8N123	CPXCR_HUMAN	C	252	ENSP00000276127:G252C;ENSP00000362203:G252C	.	G	+	1	0	CPXCR1	87895825	0.001000	0.12720	0.001000	0.08648	0.013000	0.08279	-0.519000	0.06260	-0.214000	0.10078	0.594000	0.82650	GGT		0.338	CPXCR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057418.1	NM_033048		10	0	1	0	0.00621372	1	0.00647262	10	0					T	88009169	G	T	88009169	3	4	347	1	0	0	0	0	1	0	0	0	3836	1000	35	5	756	5	CPXCR1	23	88009169	Missense_Mutation	SNP	G	TCGA-KK-A8IK-01A-11D-A364-08	44417181	88009169	67261391	42	17547											
PASD1	139135	broad.mit.edu	37	chrX	150791530	150791530	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tgcattctcaggactcagctCctgcaggtgggtatactgtg	7	12	12	10	0	2	0	2	0	1	0	4	1	3	1	1	3	4	4	1	3	2	3			TCGA-KK-A8IK-01A-11D-A364-08	TCGA-KK-A8IK-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	640ab7e7-1e44-444d-b470-196a000a9958	3a8cd4b7-4379-4fcc-b252-6c053077a0d8	g.chrX:150791530C>T	ENST00000370357.4	+	7	785	c.540C>T	c.(538-540)ctC>ctT	p.L180L		NM_173493.2	NP_775764.2	Q8IV76	PASD1_HUMAN	PAS domain containing 1	180						nucleus (GO:0005634)	signal transducer activity (GO:0004871)			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48	Acute lymphoblastic leukemia(192;6.56e-05)					GGACTCAGCTCCTGCAGGTGG	0.527																																						ENST00000370357.4																			0				breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48						c.(538-540)ctC>ctT		PAS domain containing 1							193	144	161					X																	150791530		2203	4300	6503	SO:0001819	synonymous_variant	139135					nucleus	signal transducer activity	g.chrX:150791530C>T	AY270020	CCDS35431.1	Xq28	2009-08-06			ENSG00000166049	ENSG00000166049			20686	protein-coding gene	gene with protein product	"cancer/testis antigen 63"					15122589, 15162151	Standard	NM_173493		Approved	CT63	uc004fev.4	Q8IV76	OTTHUMG00000024169	ENST00000370357.4:c.540C>T	X.37:g.150791530C>T							p.L180L	NM_173493.2	NP_775764.2	Q8IV76	PASD1_HUMAN			7	785	+	Acute lymphoblastic leukemia(192;6.56e-05)		180					Q3MNE0|Q69HD7|Q8N7X9	Silent	SNP	ENST00000370357.4	37	c.540C>T	CCDS35431.1																																																																																				0.527	PASD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060879.2	NM_173493		5	47	0	0	0	1	0	5	47					T	150791530	C	T	150791530	2	4	347	1	0	0	0	0	0	0	0	1	11471	842	30	3		3	PASD1	23	150791530	Silent	SNP	C	TCGA-KK-A8IK-01A-11D-A364-08	62782361	150791530	4479030	43	17548											
NPR1	4881	broad.mit.edu	37	chr1	153657528	153657528	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtagccttgagaggcacctgCggagtgcaggcagccggctg	7	6	17	11	2	0	1	0	1	0	1	0	3	0	2	3	4	4	5	3	4	1	2	rs139613164		TCGA-KK-A8IL-01A-11D-A364-08	TCGA-KK-A8IL-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	defe4c4d-743a-4352-8020-f614ba5bfe2d	ecf06be2-7f7e-4833-a200-287d4835fec1	g.chr1:153657528C>T	ENST00000368680.3	+	8	2045	c.1573C>T	c.(1573-1575)Cgg>Tgg	p.R525W		NM_000906.3	NP_000897.3	P16066	ANPRA_HUMAN	natriuretic peptide receptor 1	525					body fluid secretion (GO:0007589)|cell surface receptor signaling pathway (GO:0007166)|cGMP biosynthetic process (GO:0006182)|dopamine metabolic process (GO:0042417)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell growth (GO:0030308)|negative regulation of smooth muscle cell proliferation (GO:0048662)|positive regulation of cGMP biosynthetic process (GO:0030828)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of urine volume (GO:0035810)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of blood pressure (GO:0008217)|regulation of blood vessel size (GO:0050880)|regulation of vascular permeability (GO:0043114)|regulation of vasodilation (GO:0042312)	integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|G-protein coupled peptide receptor activity (GO:0008528)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|hormone binding (GO:0042562)|natriuretic peptide receptor activity (GO:0016941)|peptide hormone binding (GO:0017046)|protein kinase activity (GO:0004672)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(17)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)		Amyl Nitrite(DB01612)|Erythrityl Tetranitrate(DB01613)|Isosorbide Dinitrate(DB00883)|Nesiritide(DB04899)|Nitroglycerin(DB00727)|Nitroprusside(DB00325)	GAGGCACCTGCGGAGTGCAGG	0.622													C|||	1	0.000199681	8e-04	0	5008	,	,		15352	0		0	False		,,,				2504	0				Pancreas(141;1349 1870 15144 15830 40702)	ENST00000368680.3																			0				NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(17)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42						c.(1573-1575)Cgg>Tgg		natriuretic peptide receptor A/guanylate cyclase A (atrionatriuretic peptide receptor A)	Erythrityl Tetranitrate(DB01613)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Nesiritide(DB04899)|Nitric Oxide(DB00435)|Nitroglycerin(DB00727)|Nitroprusside(DB00325)	C	TRP/ARG	3,4403	6.2+/-15.9	0,3,2200	57	57	57		1573	2.9	1	1	dbSNP_134	57	0,8600		0,0,4300	no	missense	NPR1	NM_000906.3	101	0,3,6500	TT,TC,CC		0.0,0.0681,0.0231	probably-damaging	525/1062	153657528	3,13003	2203	4300	6503	SO:0001583	missense	4881				body fluid secretion|intracellular signal transduction|negative regulation of angiogenesis|negative regulation of cell growth|positive regulation of renal sodium excretion|positive regulation of urine volume|receptor guanylyl cyclase signaling pathway|regulation of blood pressure|regulation of blood vessel size|regulation of vascular permeability|regulation of vasodilation		ATP binding|GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|peptide receptor activity, G-protein coupled|protein kinase activity	g.chr1:153657528C>T	BC063304	CCDS1051.1	1q21-q22	2014-03-03	2014-03-03		ENSG00000169418	ENSG00000169418			7943	protein-coding gene	gene with protein product	"guanylate cyclase A"	108960	"atrionatriuretic peptide receptor A", "natriuretic peptide receptor A"	ANPRA, NPRA		1979052	Standard	NM_000906		Approved	GUCY2A, ANPa	uc001fcs.4	P16066	OTTHUMG00000037085	ENST00000368680.3:c.1573C>T	1.37:g.153657528C>T	ENSP00000357669:p.Arg525Trp						p.R525W	NM_000906.3	NP_000897.3	P16066	ANPRA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.151)		8	2045	+	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		525					B0ZBF0|Q5SR08|Q6P4Q3	Missense_Mutation	SNP	ENST00000368680.3	37	c.1573C>T	CCDS1051.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.107127	0.77096	6.81E-4	0.0	ENSG00000169418	ENST00000368680;ENST00000428723	T	0.43294	0.95	4.86	2.92	0.33932	.	0.000000	0.64402	D	0.000004	T	0.44808	0.1311	M	0.78049	2.395	0.80722	D	1	D;D	0.76494	0.995;0.999	P;P	0.59357	0.775;0.856	T	0.47935	-0.9078	10	0.62326	D	0.03	.	7.745	0.28864	0.1729:0.7393:0.0:0.0877	.	30;525	B7Z4Y7;P16066	.;ANPRA_HUMAN	W	525;30	ENSP00000357669:R525W	ENSP00000357669:R525W	R	+	1	2	NPR1	151924152	0.130000	0.22417	0.964000	0.40570	0.827000	0.46813	0.446000	0.21694	0.579000	0.29504	-0.140000	0.14226	CGG		0.622	NPR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090034.1	NM_000906		3	35	0	0	0	1	0	3	35					T	153657528	C	T	153657528	3	4	348	1	0	0	0	0	1	0	0	0	10594	759	27	1	1603	1	NPR1	1	153657528	Missense_Mutation	SNP	C	TCGA-KK-A8IL-01A-11D-A364-08		153657528	95593093	1	17549											
PYHIN1	149628	broad.mit.edu	37	chr1	158913599	158913599	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaaattgtaaataggaagaCgacaatctatgaaattcagg	19	9	9	4	1	2	2	1	1	1	1	2	5	2	3	0	2	0	1	0	2	9	5	rs373907087		TCGA-KK-A8IL-01A-11D-A364-08	TCGA-KK-A8IL-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	defe4c4d-743a-4352-8020-f614ba5bfe2d	ecf06be2-7f7e-4833-a200-287d4835fec1	g.chr1:158913599C>T	ENST00000368140.1	+	6	1267	c.1022C>T	c.(1021-1023)aCg>aTg	p.T341M	PYHIN1_ENST00000392252.3_Missense_Mutation_p.T332M|PYHIN1_ENST00000368138.3_Missense_Mutation_p.T332M|PYHIN1_ENST00000392254.2_Missense_Mutation_p.T341M|PYHIN1_ENST00000485134.1_3'UTR	NM_152501.4|NM_198928.4|NM_198929.4	NP_689714.2|NP_945146.1|NP_945147.1	Q6K0P9	IFIX_HUMAN	pyrin and HIN domain family, member 1	341	HIN-200. {ECO:0000255|PROSITE- ProRule:PRU00106}.				cell cycle (GO:0007049)	nucleus (GO:0005634)		p.T341M(1)		breast(2)|endometrium(3)|large_intestine(10)|lung(32)|ovary(3)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(112;0.0378)					AATAGGAAGACGACAATCTAT	0.353																																						ENST00000368140.1																			1	Substitution - Missense(1)	p.T341M(1)	endometrium(1)	breast(2)|endometrium(3)|large_intestine(10)|lung(32)|ovary(3)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						c.(1021-1023)aCg>aTg		pyrin and HIN domain family, member 1		C	MET/THR,MET/THR,MET/THR,MET/THR	1,4405	2.1+/-5.4	0,1,2202	67	68	68		1022,995,1022,995	-6.3	0	1		68	2,8598	2.2+/-6.3	0,2,4298	no	missense,missense,missense,missense	PYHIN1	NM_152501.4,NM_198928.4,NM_198929.4,NM_198930.3	81,81,81,81	0,3,6500	TT,TC,CC		0.0233,0.0227,0.0231	probably-damaging,probably-damaging,probably-damaging,probably-damaging	341/493,332/484,341/462,332/453	158913599	3,13003	2203	4300	6503	SO:0001583	missense	149628				cell cycle	nuclear speck		g.chr1:158913599C>T	AY185344	CCDS1178.1, CCDS1179.1, CCDS30907.1, CCDS30908.1	1q23.1	2008-02-05			ENSG00000163564	ENSG00000163564			28894	protein-coding gene	gene with protein product		612677				15122330	Standard	NM_152501		Approved	IFIX, MGC23885	uc001ftb.3	Q6K0P9	OTTHUMG00000037109	ENST00000368140.1:c.1022C>T	1.37:g.158913599C>T	ENSP00000357122:p.Thr341Met					PYHIN1_ENST00000392252.3_Missense_Mutation_p.T332M|PYHIN1_ENST00000392254.2_Missense_Mutation_p.T341M|PYHIN1_ENST00000368138.3_Missense_Mutation_p.T332M|PYHIN1_ENST00000485134.1_3'UTR	p.T341M	NM_152501.4|NM_198928.4|NM_198929.4	NP_689714.2|NP_945146.1|NP_945147.1	Q6K0P9	IFIX_HUMAN			6	1267	+	all_hematologic(112;0.0378)		341			HIN-200.		Q5T3W6|Q6K0P6|Q6K0P7|Q6K0P8|Q8WW65	Missense_Mutation	SNP	ENST00000368140.1	37	c.1022C>T	CCDS1178.1	.	.	.	.	.	.	.	.	.	.	C	9.257	1.042168	0.19748	2.27E-4	2.33E-4	ENSG00000163564	ENST00000368140;ENST00000368138;ENST00000392254;ENST00000392252	T;T;T;T	0.14516	2.5;2.5;2.5;2.5	3.13	-6.26	0.02033	HIN-200/IF120x (2);Nucleic acid-binding, OB-fold (1);	.	.	.	.	T	0.05318	0.0141	L	0.43152	1.355	0.09310	N	1	D;D;D;D	0.71674	0.998;0.992;0.998;0.998	P;P;P;P	0.56751	0.705;0.661;0.705;0.805	T	0.02901	-1.1096	9	0.35671	T	0.21	.	1.0541	0.01586	0.1724:0.1392:0.2911:0.3973	.	332;341;332;341	Q6K0P9-4;Q6K0P9-3;Q6K0P9-2;Q6K0P9	.;.;.;IFIX_HUMAN	M	341;332;341;332	ENSP00000357122:T341M;ENSP00000357120:T332M;ENSP00000376083:T341M;ENSP00000376082:T332M	ENSP00000357120:T332M	T	+	2	0	PYHIN1	157180223	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-6.332000	0.00070	-2.049000	0.00906	-1.072000	0.02254	ACG		0.353	PYHIN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000090110.1	NM_152501		8	28	0	0	0	1	0	8	28					T	158913599	C	T	158913599	3	4	348	1	0	0	0	0	1	0	0	0	12865	536	19	1	1040	1	PYHIN1	1	158913599	Missense_Mutation	SNP	C	TCGA-KK-A8IL-01A-11D-A364-08	5256071	158913599	90337022	2	17550											
HMCN1	83872	broad.mit.edu	37	chr1	186063456	186063456	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgtgtatacttgtgtggcCtccaacagagctggggtgga	7	11	15	8	0	0	1	0	0	0	1	1	2	1	2	2	4	3	3	2	4	3	3			TCGA-KK-A8IL-01A-11D-A364-08	TCGA-KK-A8IL-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	defe4c4d-743a-4352-8020-f614ba5bfe2d	ecf06be2-7f7e-4833-a200-287d4835fec1	g.chr1:186063456C>A	ENST00000271588.4	+	67	10474	c.10245C>A	c.(10243-10245)gcC>gcA	p.A3415A	HMCN1_ENST00000367492.2_Silent_p.A3415A	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	3415	Ig-like C2-type 32.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						CTTGTGTGGCCTCCAACAGAG	0.413																																						ENST00000271588.4																			0				NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						c.(10243-10245)gcC>gcA		hemicentin 1							237	204	215					1																	186063456		2203	4300	6503	SO:0001819	synonymous_variant	83872				response to stimulus|visual perception	basement membrane	calcium ion binding	g.chr1:186063456C>A	AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"Fibulins", "Immunoglobulin superfamily / I-set domain containing"	19194	protein-coding gene	gene with protein product	"fibulin 6"	608548	"age-related macular degeneration 1 (senile macular degeneration)"	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.10245C>A	1.37:g.186063456C>A						HMCN1_ENST00000367492.2_Silent_p.A3415A	p.A3415A	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN			67	10474	+			3415			Ig-like C2-type 32.		A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Silent	SNP	ENST00000271588.4	37	c.10245C>A	CCDS30956.1																																																																																				0.413	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935		8	29	1	0	1.76689e-08	1	1.97476e-08	8	29					A	186063456	C	A	186063456	2	1	348	1	0	0	0	0	0	0	0	1	7220	668	24	5		5	HMCN1	1	186063456	Silent	SNP	C	TCGA-KK-A8IL-01A-11D-A364-08	27149857	186063456	63187165	3	17551											
DGUOK	1716	broad.mit.edu	37	chr2	74154094	74154094	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcacccttcagttccatggcCaagagcccactcgagggcgt	8	7	11	15	2	1	1	1	0	0	1	3	2	2	1	4	2	1	2	4	2	1	2			TCGA-KK-A8IL-01A-11D-A364-08	TCGA-KK-A8IL-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	defe4c4d-743a-4352-8020-f614ba5bfe2d	ecf06be2-7f7e-4833-a200-287d4835fec1	g.chr2:74154094C>T	ENST00000264093.4	+	1	142	c.57C>T	c.(55-57)gcC>gcT	p.A19A	DGUOK_ENST00000348222.1_Silent_p.A19A|DGUOK_ENST00000356837.6_Silent_p.A19A|DGUOK_ENST00000462685.1_3'UTR	NM_080916.2	NP_550438.1	Q16854	DGUOK_HUMAN	deoxyguanosine kinase	19					deoxyribonucleoside monophosphate biosynthetic process (GO:0009157)|dGTP metabolic process (GO:0046070)|guanosine metabolic process (GO:0008617)|negative regulation of neuron projection development (GO:0010977)|nucleobase-containing small molecule metabolic process (GO:0055086)|nucleotide biosynthetic process (GO:0009165)|protein phosphorylation (GO:0006468)|purine deoxyribonucleoside metabolic process (GO:0046122)|purine nucleobase metabolic process (GO:0006144)|purine-containing compound salvage (GO:0043101)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|deoxyguanosine kinase activity (GO:0004138)|nucleoside kinase activity (GO:0019206)			endometrium(1)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	8					Nelarabine(DB01280)	GTTCCATGGCCAAGAGCCCAC	0.637																																						ENST00000264093.4																			0				endometrium(1)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	8						c.(55-57)gcC>gcT		deoxyguanosine kinase							49	46	47					2																	74154094		2203	4300	6503	SO:0001819	synonymous_variant	1716				guanosine metabolic process|purine base metabolic process|purine deoxyribonucleoside metabolic process|purine-containing compound salvage	mitochondrial matrix	ATP binding|deoxyguanosine kinase activity|phosphotransferase activity, alcohol group as acceptor	g.chr2:74154094C>T	U41668	CCDS1931.1, CCDS1932.1	2p13	2008-02-05			ENSG00000114956	ENSG00000114956	2.7.1.113		2858	protein-coding gene	gene with protein product		601465					Standard	NM_080916		Approved	dGK	uc002sjx.3	Q16854	OTTHUMG00000129819	ENST00000264093.4:c.57C>T	2.37:g.74154094C>T						DGUOK_ENST00000356837.6_Silent_p.A19A|DGUOK_ENST00000462685.1_3'UTR|DGUOK_ENST00000348222.1_Silent_p.A19A	p.A19A	NM_080916.2	NP_550438.1	Q16854	DGUOK_HUMAN			1	142	+			19					P78532|Q16759|Q4ZG09|Q7L1W9|Q96BC1	Silent	SNP	ENST00000264093.4	37	c.57C>T	CCDS1931.1																																																																																				0.637	DGUOK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252050.1			3	42	0	0	0	1	0	3	42					T	74154094	C	T	74154094	2	4	348	1	0	0	0	0	0	0	0	1	4475	581	21	3		3	DGUOK	2	74154094	Silent	SNP	C	TCGA-KK-A8IL-01A-11D-A364-08		74154094	169045279	4	17552											
NPHP1	4867	broad.mit.edu	37	chr2	110889309	110889309	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcacatctccaagaatttgtCgataaaatatcaacaagtga	17	10	6	8	1	2	2	1	1	1	1	4	3	2	2	1	0	1	1	1	0	7	3	rs534052463		TCGA-KK-A8IL-01A-11D-A364-08	TCGA-KK-A8IL-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	defe4c4d-743a-4352-8020-f614ba5bfe2d	ecf06be2-7f7e-4833-a200-287d4835fec1	g.chr2:110889309C>T	ENST00000393272.3	-	17	1851	c.1754G>A	c.(1753-1755)cGa>cAa	p.R585Q	NPHP1_ENST00000417665.1_Missense_Mutation_p.R529Q|NPHP1_ENST00000316534.4_Missense_Mutation_p.R586Q|NPHP1_ENST00000445609.2_Missense_Mutation_p.R530Q|NPHP1_ENST00000355301.4_Missense_Mutation_p.R467Q	NM_000272.3|NM_207181.2	NP_000263.2|NP_997064.2	O15259	NPHP1_HUMAN	nephronophthisis 1 (juvenile)	585					actin cytoskeleton organization (GO:0030036)|cell projection organization (GO:0030030)|cellular protein localization (GO:0034613)|excretion (GO:0007588)|photoreceptor cell outer segment organization (GO:0035845)|retina development in camera-type eye (GO:0060041)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|spermatid differentiation (GO:0048515)|visual behavior (GO:0007632)	cell-cell junction (GO:0005911)|ciliary transition zone (GO:0035869)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|membrane (GO:0016020)|motile cilium (GO:0031514)|photoreceptor connecting cilium (GO:0032391)|tight junction (GO:0005923)	structural molecule activity (GO:0005198)			autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(2)	24						AAGAATTTGTCGATAAAATAT	0.363													C|||	1	0.000199681	8e-04	0	5008	,	,		19521	0		0	False		,,,				2504	0					ENST00000316534.4																			0				autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(2)	24						c.(1756-1758)cGa>cAa		nephronophthisis 1 (juvenile)							80	78	79					2																	110889309		2203	4300	6503	SO:0001583	missense	4867				actin cytoskeleton organization|cell projection organization|cell-cell adhesion|excretion|retina development in camera-type eye|signal transduction|spermatid differentiation|visual behavior	adherens junction|cell-cell junction|cilium axoneme|cytoplasm|cytoskeleton|motile cilium|photoreceptor connecting cilium	protein binding|structural molecule activity	g.chr2:110889309C>T	AF023674	CCDS2086.1, CCDS46384.1, CCDS46385.1, CCDS46386.1	2q13	2014-01-28			ENSG00000144061	ENSG00000144061			7905	protein-coding gene	gene with protein product	"nephrocystin-1"	607100		NPH1			Standard	NM_000272		Approved	JBTS4, SLSN1	uc002tfm.4	O15259	OTTHUMG00000131195	ENST00000393272.3:c.1754G>A	2.37:g.110889309C>T	ENSP00000376953:p.Arg585Gln					NPHP1_ENST00000417665.1_Missense_Mutation_p.R529Q|NPHP1_ENST00000445609.2_Missense_Mutation_p.R530Q|NPHP1_ENST00000355301.4_Missense_Mutation_p.R467Q|NPHP1_ENST00000393272.3_Missense_Mutation_p.R585Q	p.R586Q			O15259	NPHP1_HUMAN			17	1830	-			585					O14837	Missense_Mutation	SNP	ENST00000393272.3	37	c.1757G>A	CCDS46385.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.240173	0.79912	.	.	ENSG00000144061	ENST00000316534;ENST00000445609;ENST00000393272;ENST00000355301;ENST00000417665	D;D;D;D;D	0.88124	-2.34;-2.27;-2.34;-2.3;-2.13	5.15	3.35	0.38373	.	0.000000	0.85682	D	0.000000	D	0.92244	0.7540	M	0.79475	2.455	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	0.999;0.997;0.999;0.997;1.0;0.998	D	0.91557	0.5261	10	0.87932	D	0	-7.1647	10.4649	0.44602	0.0:0.8393:0.0:0.1607	.	529;529;467;585;530;586	B4DQY0;C9JNM7;O15259-3;O15259;O15259-2;O15259-4	.;.;.;NPHP1_HUMAN;.;.	Q	586;530;585;467;529	ENSP00000313169:R586Q;ENSP00000389879:R530Q;ENSP00000376953:R585Q;ENSP00000347452:R467Q;ENSP00000402176:R529Q	ENSP00000313169:R586Q	R	-	2	0	NPHP1	110246598	1.000000	0.71417	0.995000	0.50966	0.992000	0.81027	4.115000	0.57865	0.567000	0.29293	0.467000	0.42956	CGA		0.363	NPHP1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000253919.3	NM_000272		4	23	0	0	0	1	0	4	23					T	110889309	C	T	110889309	3	4	348	1	0	0	0	0	1	0	0	0	10579	884	31	2	460	2	NPHP1	2	110889309	Missense_Mutation	SNP	C	TCGA-KK-A8IL-01A-11D-A364-08	36735215	110889309	132310064	5	17553											
NCKAP5	344148	broad.mit.edu	37	chr2	133538654	133538654	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttggtacttccatatcggCtttgattttcatgtttttct	5	23	6	7	1	2	1	1	1	1	0	4	1	3	1	1	2	1	3	1	2	2	10			TCGA-KK-A8IL-01A-11D-A364-08	TCGA-KK-A8IL-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	defe4c4d-743a-4352-8020-f614ba5bfe2d	ecf06be2-7f7e-4833-a200-287d4835fec1	g.chr2:133538654C>A	ENST00000409261.1	-	15	5393	c.5020G>T	c.(5020-5022)Gcc>Tcc	p.A1674S	NCKAP5_ENST00000405974.3_Intron|NCKAP5_ENST00000409213.1_Intron|NCKAP5_ENST00000317721.6_Missense_Mutation_p.A1674S|NCKAP5_ENST00000473859.1_5'UTR	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	1674										NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						TCCATATCGGCTTTGATTTTC	0.463																																						ENST00000409261.1																			0				NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						c.(5020-5022)Gcc>Tcc		NCK-associated protein 5							96	96	96					2																	133538654		1903	4119	6022	SO:0001583	missense	344148						protein binding	g.chr2:133538654C>A	AB005217	CCDS46417.1, CCDS46418.1	2q21.2	2010-02-17			ENSG00000176771	ENSG00000176771			29847	protein-coding gene	gene with protein product	"Nck associated protein 5", "peripheral clock protein"	608789				9344857	Standard	NM_207363		Approved	NAP5, ERIH1, ERIH2	uc002ttp.3	O14513	OTTHUMG00000153573	ENST00000409261.1:c.5020G>T	2.37:g.133538654C>A	ENSP00000387128:p.Ala1674Ser					NCKAP5_ENST00000409213.1_Intron|NCKAP5_ENST00000405974.3_Intron|NCKAP5_ENST00000317721.6_Missense_Mutation_p.A1674S|NCKAP5_ENST00000473859.1_5'UTR	p.A1674S	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN			15	5393	-			1674					B8ZZL0|Q29SS9|Q29ST0|Q2NL90|Q6ZVE2|Q8NAS3	Missense_Mutation	SNP	ENST00000409261.1	37	c.5020G>T	CCDS46418.1	.	.	.	.	.	.	.	.	.	.	C	12.61	1.990510	0.35131	.	.	ENSG00000176771	ENST00000409261;ENST00000317721	T;T	0.10099	2.91;2.91	5.35	3.56	0.40772	.	0.263211	0.18733	U	0.132679	T	0.10208	0.0250	N	0.24115	0.695	0.80722	D	1	P	0.45531	0.86	P	0.47075	0.536	T	0.24154	-1.0168	10	0.30854	T	0.27	.	9.9861	0.41843	0.0:0.8452:0.0:0.1548	.	1674	O14513	NCKP5_HUMAN	S	1674	ENSP00000387128:A1674S;ENSP00000380603:A1674S	ENSP00000380603:A1674S	A	-	1	0	NCKAP5	133255124	0.993000	0.37304	0.794000	0.32065	0.485000	0.33311	2.325000	0.43840	0.823000	0.34589	0.655000	0.94253	GCC		0.463	NCKAP5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331663.1	NM_207481		4	16	1	0	1.23904e-05	1	1.33255e-05	4	16					A	133538654	C	A	133538654	3	1	348	1	0	0	0	0	1	0	0	0	10223	797	28	5	733	5	NCKAP5	2	133538654	Missense_Mutation	SNP	C	TCGA-KK-A8IL-01A-11D-A364-08	22649345	133538654	109660719	6	17554											
NCKAP5	344148	broad.mit.edu	37	chr2	133538754	133538754	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tttaacacattcctgcaggaAgcattacttgatccactttc	11	14	5	11	0	0	1	0	1	0	0	3	2	2	2	2	1	4	2	2	1	3	6			TCGA-KK-A8IL-01A-11D-A364-08	TCGA-KK-A8IL-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	defe4c4d-743a-4352-8020-f614ba5bfe2d	ecf06be2-7f7e-4833-a200-287d4835fec1	g.chr2:133538754A>G	ENST00000409261.1	-	15	5293	c.4920T>C	c.(4918-4920)gcT>gcC	p.A1640A	NCKAP5_ENST00000405974.3_Intron|NCKAP5_ENST00000409213.1_Intron|NCKAP5_ENST00000317721.6_Silent_p.A1640A|NCKAP5_ENST00000473859.1_5'UTR	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	1640										NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						TCCTGCAGGAAGCATTACTTG	0.433																																						ENST00000409261.1																			0				NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						c.(4918-4920)gcT>gcC		NCK-associated protein 5							124	123	123					2																	133538754		1916	4132	6048	SO:0001819	synonymous_variant	344148						protein binding	g.chr2:133538754A>G	AB005217	CCDS46417.1, CCDS46418.1	2q21.2	2010-02-17			ENSG00000176771	ENSG00000176771			29847	protein-coding gene	gene with protein product	"Nck associated protein 5", "peripheral clock protein"	608789				9344857	Standard	NM_207363		Approved	NAP5, ERIH1, ERIH2	uc002ttp.3	O14513	OTTHUMG00000153573	ENST00000409261.1:c.4920T>C	2.37:g.133538754A>G						NCKAP5_ENST00000409213.1_Intron|NCKAP5_ENST00000405974.3_Intron|NCKAP5_ENST00000317721.6_Silent_p.A1640A|NCKAP5_ENST00000473859.1_5'UTR	p.A1640A	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN			15	5293	-			1640					B8ZZL0|Q29SS9|Q29ST0|Q2NL90|Q6ZVE2|Q8NAS3	Silent	SNP	ENST00000409261.1	37	c.4920T>C	CCDS46418.1																																																																																				0.433	NCKAP5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331663.1	NM_207481		8	35	0	0	0	1	0	8	35					G	133538754	A	G	133538754	2	3	348	1	0	0	0	0	0	0	0	1	10223	59	3	4		4	NCKAP5	2	133538754	Silent	SNP	A	TCGA-KK-A8IL-01A-11D-A364-08	100	133538754	109660619	7	17555											
STK36	64320	broad.mit.edu	37	chr2	219540121	219540121	+	5'Flank	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtactatctgcattcccaccGcatcctacaccgagatatga	11	10	6	14	2	1	2	0	1	1	1	3	3	3	2	4	0	3	3	4	0	4	5			TCGA-KK-A8IL-01A-11D-A364-08	TCGA-KK-A8IL-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	defe4c4d-743a-4352-8020-f614ba5bfe2d	ecf06be2-7f7e-4833-a200-287d4835fec1	g.chr2:219540121G>A	ENST00000295704.2	-	0	0				STK36_ENST00000392105.3_Missense_Mutation_p.R120H|STK36_ENST00000392106.2_Missense_Mutation_p.R120H|STK36_ENST00000295709.3_Missense_Mutation_p.R120H|STK36_ENST00000440309.1_Missense_Mutation_p.R120H	NM_022453.2	NP_071898.2	Q96BH1	RNF25_HUMAN	ring finger protein 25						positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein ubiquitination (GO:0016567)	cytosol (GO:0005829)|nucleus (GO:0005634)	ligase activity (GO:0016874)|NF-kappaB binding (GO:0051059)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.R120H(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	24		Renal(207;0.0474)		Epithelial(149;6.99e-07)|all cancers(144;0.000129)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CATTCCCACCGCATCCTACAC	0.468																																						ENST00000295709.3																			1	Substitution - Missense(1)	p.R120H(1)	upper_aerodigestive_tract(1)	biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(20)|ovary(4)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	52						c.(358-360)cGc>cAc		serine/threonine kinase 36							171	157	162					2																	219540121		2203	4300	6503	SO:0001631	upstream_gene_variant	27148				cilium assembly|positive regulation of hh target transcription factor activity|positive regulation of smoothened signaling pathway|post-embryonic development	aggresome|cytoplasm|focal adhesion|intermediate filament cytoskeleton|nucleus	ATP binding|protein serine/threonine kinase activity|transcription factor binding	g.chr2:219540121G>A		CCDS2420.1	2q35	2008-02-05			ENSG00000163481	ENSG00000163481		"RING-type (C3HC4) zinc fingers"	14662	protein-coding gene	gene with protein product						12748188	Standard	NM_022453		Approved	AO7, FLJ13906	uc002vit.3	Q96BH1	OTTHUMG00000133077		2.37:g.219540121G>A	Exception_encountered					STK36_ENST00000440309.1_Missense_Mutation_p.R120H|STK36_ENST00000392105.3_Missense_Mutation_p.R120H|STK36_ENST00000392106.2_Missense_Mutation_p.R120H	p.R120H	NM_015690.4	NP_056505.2	Q9NRP7	STK36_HUMAN		Epithelial(149;9.65e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00984)	5	638	+		Renal(207;0.0915)	120			Protein kinase.		A8K0D6|Q53HQ5|Q9H874	Missense_Mutation	SNP	ENST00000295704.2	37	c.359G>A	CCDS2420.1	.	.	.	.	.	.	.	.	.	.	G	36	5.778337	0.96929	.	.	ENSG00000163482	ENST00000295709;ENST00000392106;ENST00000392105;ENST00000455724;ENST00000440309;ENST00000424080	T;T;T;T;T;D	0.82984	1.82;1.82;1.82;1.82;1.82;-1.67	5.71	5.71	0.89125	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.43919	D	0.000504	D	0.84906	0.5576	N	0.12611	0.24	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.87804	0.2627	10	0.87932	D	0	-16.4365	19.8677	0.96824	0.0:0.0:1.0:0.0	.	120;120	Q9NRP7-2;Q9NRP7	.;STK36_HUMAN	H	120;120;120;66;120;120	ENSP00000295709:R120H;ENSP00000375955:R120H;ENSP00000375954:R120H;ENSP00000400055:R66H;ENSP00000394095:R120H;ENSP00000403527:R120H	ENSP00000295709:R120H	R	+	2	0	STK36	219248365	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	7.988000	0.88194	2.709000	0.92574	0.655000	0.94253	CGC		0.468	RNF25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256721.1	NM_022453		4	65	0	0	0	1	0	4	65					A	219540121	G	A	219540121	1	1	348	0	1	0	0	0	0	0	0	0	15301	1087	38	1		1	STK36	2	219540121	5'Flank	SNP	G	TCGA-KK-A8IL-01A-11D-A364-08	86001367	219540121	23659252	8	17556											
DGKD	8527	broad.mit.edu	37	chr2	234356982	234356982	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggaaggcctatgagaagacGaccgagagctcggaggagtc	12	4	17	8	3	0	3	0	1	0	3	2	9	0	6	2	4	1	1	2	4	3	1	rs371162662		TCGA-KK-A8IL-01A-11D-A364-08	TCGA-KK-A8IL-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	defe4c4d-743a-4352-8020-f614ba5bfe2d	ecf06be2-7f7e-4833-a200-287d4835fec1	g.chr2:234356982G>T	ENST00000264057.2	+	14	1587	c.1575G>T	c.(1573-1575)acG>acT	p.T525T	DGKD_ENST00000409813.3_Silent_p.T481T	NM_152879.2	NP_690618.2	Q16760	DGKD_HUMAN	diacylglycerol kinase, delta 130kDa	525					blood coagulation (GO:0007596)|cell growth (GO:0016049)|diacylglycerol metabolic process (GO:0046339)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|multicellular organismal development (GO:0007275)|platelet activation (GO:0030168)|protein homooligomerization (GO:0051260)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein transport (GO:0015031)|response to organic substance (GO:0010033)|second-messenger-mediated signaling (GO:0019932)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol binding (GO:0019992)|diacylglycerol kinase activity (GO:0004143)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(13)|lung(15)|ovary(1)|pancreas(1)|skin(1)	38		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0538)		Epithelial(121;1.31e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000416)|Lung(119;0.00285)|LUSC - Lung squamous cell carcinoma(224;0.00655)	Phosphatidylserine(DB00144)	ATGAGAAGACGACCGAGAGCT	0.587																																						ENST00000264057.2																			0				central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(13)|lung(15)|ovary(1)|pancreas(1)|skin(1)	38						c.(1573-1575)acG>acT		diacylglycerol kinase, delta 130kDa	Phosphatidylserine(DB00144)						103	90	95					2																	234356982		2203	4300	6503	SO:0001819	synonymous_variant	8527				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell growth|diacylglycerol metabolic process|endocytosis|epidermal growth factor receptor signaling pathway|multicellular organismal development|platelet activation|protein homooligomerization|protein transport|response to organic substance|second-messenger-mediated signaling	cytoplasm|cytoplasmic membrane-bounded vesicle|plasma membrane	ATP binding|diacylglycerol binding|diacylglycerol kinase activity|metal ion binding|protein heterodimerization activity|protein homodimerization activity	g.chr2:234356982G>T	D63479	CCDS2504.1, CCDS46546.1	2q37	2013-01-10	2002-08-29		ENSG00000077044	ENSG00000077044		"Sterile alpha motif (SAM) domain containing", "Pleckstrin homology (PH) domain containing"	2851	protein-coding gene	gene with protein product	"diglyceride kinase"	601826	"diacylglycerol kinase, delta (130kD)"			8626538, 12810723	Standard	NM_003648		Approved	KIAA0145, DGKdelta	uc002vui.1	Q16760	OTTHUMG00000133290	ENST00000264057.2:c.1575G>T	2.37:g.234356982G>T						DGKD_ENST00000409813.3_Silent_p.T481T	p.T525T	NM_152879.2	NP_690618.2	Q16760	DGKD_HUMAN		Epithelial(121;1.31e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000416)|Lung(119;0.00285)|LUSC - Lung squamous cell carcinoma(224;0.00655)	14	1587	+		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0538)	525					Q14158|Q6PK55|Q8NG53	Silent	SNP	ENST00000264057.2	37	c.1575G>T	CCDS2504.1																																																																																				0.587	DGKD-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257072.2	NM_003648		6	50	1	0	5.18039e-06	1	5.67851e-06	6	50					T	234356982	G	T	234356982	2	4	348	1	0	0	0	0	0	0	0	1	4467	1045	37	5		5	DGKD	2	234356982	Silent	SNP	G	TCGA-KK-A8IL-01A-11D-A364-08	14816861	234356982	8842391	9	17557											
SEPT2	4735	broad.mit.edu	37	chr2	242289493	242289493	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tgtgtgtgttcacagctccgCcgcatgcaagagatgattgc	8	11	12	10	2	1	2	1	1	0	1	2	3	2	2	2	0	3	4	2	0	1	2			TCGA-KK-A8IL-01A-11D-A364-08	TCGA-KK-A8IL-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	defe4c4d-743a-4352-8020-f614ba5bfe2d	ecf06be2-7f7e-4833-a200-287d4835fec1	g.chr2:242289493C>T	ENST00000391973.2	+	12	1518	c.990C>T	c.(988-990)cgC>cgT	p.R330R	SEPT2_ENST00000402092.2_Silent_p.R330R|AC005104.3_ENST00000414896.1_RNA|SEPT2_ENST00000391971.2_Silent_p.R330R|SEPT2_ENST00000401990.1_Silent_p.R340R|SEPT2_ENST00000360051.3_Silent_p.R330R|SEPT2_ENST00000407971.1_Silent_p.R290R	NM_006155.1	NP_006146.1	Q15019	SEPT2_HUMAN	septin 2	330					cilium assembly (GO:0042384)|mitotic nuclear division (GO:0007067)|neuron projection development (GO:0031175)|regulation of L-glutamate transport (GO:0002036)|regulation of protein localization (GO:0032880)|smoothened signaling pathway (GO:0007224)	actin cytoskeleton (GO:0015629)|cell surface (GO:0009986)|ciliary membrane (GO:0060170)|ciliary transition zone (GO:0035869)|cytoplasm (GO:0005737)|exocyst (GO:0000145)|extracellular vesicular exosome (GO:0070062)|kinetochore (GO:0000776)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|septin complex (GO:0031105)|synapse (GO:0045202)	enzyme regulator activity (GO:0030234)|GTP binding (GO:0005525)			central_nervous_system(2)|endometrium(1)|large_intestine(4)|lung(3)|skin(2)	12		all_cancers(19;7.62e-41)|all_epithelial(40;1.71e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;1.24e-34)|all cancers(36;7.15e-32)|OV - Ovarian serous cystadenocarcinoma(60;1.21e-15)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;3.16e-06)|Lung(119;7.81e-05)|LUSC - Lung squamous cell carcinoma(224;0.000742)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0889)		CACAGCTCCGCCGCATGCAAG	0.502																																						ENST00000391973.2																			0				central_nervous_system(2)|endometrium(1)|large_intestine(4)|lung(3)|skin(2)	12						c.(988-990)cgC>cgT		septin 2							41	38	39					2																	242289493		2203	4300	6503	SO:0001819	synonymous_variant	4735				cell division|mitosis	actin cytoskeleton|cleavage furrow|condensed chromosome kinetochore|midbody|nucleolus|septin complex|spindle	GTP binding	g.chr2:242289493C>T	D28540	CCDS2548.1, CCDS63195.1, CCDS74682.1	2q37.3	2013-01-21	2005-01-11	2005-01-12	ENSG00000168385	ENSG00000168385		"Septins"	7729	protein-coding gene	gene with protein product		601506	"neural precursor cell expressed, developmentally down-regulated 5"	DIFF6, NEDD5		8697812	Standard	XM_005247011		Approved	KIAA0158, hNedd5, Pnutl3	uc002wbd.3	Q15019	OTTHUMG00000133394	ENST00000391973.2:c.990C>T	2.37:g.242289493C>T						SEPT2_ENST00000360051.3_Silent_p.R330R|SEPT2_ENST00000402092.2_Silent_p.R330R|SEPT2_ENST00000391971.2_Silent_p.R330R|SEPT2_ENST00000401990.1_Silent_p.R340R|SEPT2_ENST00000407971.1_Silent_p.R290R	p.R330R	NM_006155.1	NP_006146.1	Q15019	SEPT2_HUMAN		Epithelial(32;1.24e-34)|all cancers(36;7.15e-32)|OV - Ovarian serous cystadenocarcinoma(60;1.21e-15)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;3.16e-06)|Lung(119;7.81e-05)|LUSC - Lung squamous cell carcinoma(224;0.000742)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0889)	12	1518	+		all_cancers(19;7.62e-41)|all_epithelial(40;1.71e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)	330					B4DGE8|Q14132|Q53QU3|Q8IUK9|Q96CB0	Silent	SNP	ENST00000391973.2	37	c.990C>T	CCDS2548.1																																																																																				0.502	SEPT2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323177.3	NM_006155		3	14	0	0	0	1	0	3	14					T	242289493	C	T	242289493	2	4	348	1	0	0	0	0	0	0	0	1	14064	726	26	3		3	SEPT2	2	242289493	Silent	SNP	C	TCGA-KK-A8IL-01A-11D-A364-08	7932511	242289493	909880	10	17558											
KCNH8	131096	broad.mit.edu	37	chr3	19498330	19498330	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aagaccaatgcagatgtaaaGgctttaacctactgtgatct	14	11	8	8	0	1	3	0	1	1	2	1	3	1	3	2	1	3	3	2	1	6	4			TCGA-KK-A8IL-01A-11D-A364-08	TCGA-KK-A8IL-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	defe4c4d-743a-4352-8020-f614ba5bfe2d	ecf06be2-7f7e-4833-a200-287d4835fec1	g.chr3:19498330G>T	ENST00000328405.2	+	11	2162	c.1896G>T	c.(1894-1896)aaG>aaT	p.K632N		NM_144633.2	NP_653234.2	Q96L42	KCNH8_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 8	632					potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(3)|lung(37)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	77						CAGATGTAAAGGCTTTAACCT	0.393																																					NSCLC(124;1625 1765 8018 24930 42026)	ENST00000328405.2																			0				NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(3)|lung(37)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	77						c.(1894-1896)aaG>aaT		potassium voltage-gated channel, subfamily H (eag-related), member 8							158	144	149					3																	19498330		2203	4300	6503	SO:0001583	missense	131096					integral to membrane	two-component sensor activity	g.chr3:19498330G>T	AY053503	CCDS2632.1	3p24.3	2012-07-05			ENSG00000183960	ENSG00000183960		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	18864	protein-coding gene	gene with protein product		608260				16382104	Standard	NM_144633		Approved	Kv12.1, elk3	uc003cbk.1	Q96L42	OTTHUMG00000129891	ENST00000328405.2:c.1896G>T	3.37:g.19498330G>T	ENSP00000328813:p.Lys632Asn						p.K632N	NM_144633.2	NP_653234.2	Q96L42	KCNH8_HUMAN			11	2162	+			632					B7Z2I7|Q59GQ6	Missense_Mutation	SNP	ENST00000328405.2	37	c.1896G>T	CCDS2632.1	.	.	.	.	.	.	.	.	.	.	G	18.35	3.604117	0.66445	.	.	ENSG00000183960	ENST00000328405	D	0.97066	-4.23	5.58	1.77	0.24775	Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);Cyclic nucleotide-binding domain (3);	0.000000	0.32563	U	0.005936	D	0.98223	0.9412	M	0.90650	3.135	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.97502	1.0061	9	.	.	.	.	8.4112	0.32644	0.4302:0.0:0.5698:0.0	.	632	Q96L42	KCNH8_HUMAN	N	632	ENSP00000328813:K632N	.	K	+	3	2	KCNH8	19473334	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	1.593000	0.36686	0.402000	0.25451	0.557000	0.71058	AAG		0.393	KCNH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252139.2	NM_144633		24	41	1	0	1.10513e-12	1	1.25985e-12	24	41					T	19498330	G	T	19498330	3	4	348	1	0	0	0	0	1	0	0	0	8038	991	35	5	1938	5	KCNH8	3	19498330	Missense_Mutation	SNP	G	TCGA-KK-A8IL-01A-11D-A364-08		19498330	178524100	11	17559											
SLITRK3	22865	broad.mit.edu	37	chr3	164907874	164907874	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagggcagtataaggaatgcGttccagccaactcttcagtt	11	10	10	10	1	2	0	1	0	1	0	3	1	3	1	2	2	3	4	2	2	4	5			TCGA-KK-A8IL-01A-11D-A364-08	TCGA-KK-A8IL-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	defe4c4d-743a-4352-8020-f614ba5bfe2d	ecf06be2-7f7e-4833-a200-287d4835fec1	g.chr3:164907874G>A	ENST00000475390.1	-	2	1188	c.745C>T	c.(745-747)Cgc>Tgc	p.R249C	SLITRK3_ENST00000241274.3_Missense_Mutation_p.R249C			O94933	SLIK3_HUMAN	SLIT and NTRK-like family, member 3	249	LRRCT 1.				axonogenesis (GO:0007409)	integral component of membrane (GO:0016021)		p.R249C(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						TAAGGAATGCGTTCCAGCCAA	0.478										HNSCC(40;0.11)																												ENST00000475390.1																			1	Substitution - Missense(1)	p.R249C(1)	upper_aerodigestive_tract(1)	NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						c.(745-747)Cgc>Tgc		SLIT and NTRK-like family, member 3							115	119	118					3																	164907874		2203	4300	6503	SO:0001583	missense	22865					integral to membrane		g.chr3:164907874G>A	AB020655	CCDS3197.1	3q26.1	2004-07-28			ENSG00000121871	ENSG00000121871			23501	protein-coding gene	gene with protein product		609679				10048485, 14557068	Standard	NM_014926		Approved	KIAA0848	uc003fek.3	O94933	OTTHUMG00000158072	ENST00000475390.1:c.745C>T	3.37:g.164907874G>A	ENSP00000420091:p.Arg249Cys	HNSCC(40;0.11)				SLITRK3_ENST00000241274.3_Missense_Mutation_p.R249C	p.R249C			O94933	SLIK3_HUMAN			2	1188	-			249			LRRCT 1.		Q1RMY6	Missense_Mutation	SNP	ENST00000475390.1	37	c.745C>T	CCDS3197.1	.	.	.	.	.	.	.	.	.	.	G	16.17	3.048484	0.55110	.	.	ENSG00000121871	ENST00000475390;ENST00000241274	T;T	0.53857	0.6;0.6	5.85	4.95	0.65309	Cysteine-rich flanking region, C-terminal (1);	0.000000	0.33092	N	0.005291	T	0.71500	0.3347	M	0.81942	2.565	0.80722	D	1	D	0.89917	1.0	P	0.61722	0.893	T	0.76061	-0.3097	10	0.56958	D	0.05	-14.4408	16.0903	0.81086	0.0:0.0:0.8651:0.1349	.	249	O94933	SLIK3_HUMAN	C	249	ENSP00000420091:R249C;ENSP00000241274:R249C	ENSP00000241274:R249C	R	-	1	0	SLITRK3	166390568	1.000000	0.71417	0.998000	0.56505	0.992000	0.81027	2.333000	0.43912	1.412000	0.46977	0.655000	0.94253	CGC		0.478	SLITRK3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350126.1	NM_014926		9	47	0	0	0	1	0	9	47					A	164907874	G	A	164907874	3	1	348	1	0	0	0	0	1	0	0	0	14744	1145	40	1	2192	1	SLITRK3	3	164907874	Missense_Mutation	SNP	G	TCGA-KK-A8IL-01A-11D-A364-08	145409544	164907874	33114556	12	17560											
SH3TC1	54436	broad.mit.edu	37	chr4	8228813	8228813	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctgcccccaggagccagcGtcctggggtctctgtgcggc	3	7	16	15	2	1	0	0	0	1	0	3	1	2	1	4	5	4	1	4	5	0	0			TCGA-KK-A8IL-01A-11D-A364-08	TCGA-KK-A8IL-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	defe4c4d-743a-4352-8020-f614ba5bfe2d	ecf06be2-7f7e-4833-a200-287d4835fec1	g.chr4:8228813G>A	ENST00000245105.3	+	12	1459	c.1392G>A	c.(1390-1392)gcG>gcA	p.A464A	SH3TC1_ENST00000514274.1_3'UTR|SH3TC1_ENST00000539824.1_Silent_p.A388A	NM_018986.3	NP_061859	Q8TE82	S3TC1_HUMAN	SH3 domain and tetratricopeptide repeats 1	464										NS(1)|breast(3)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33						AGGAGCCAGCGTCCTGGGGTC	0.627																																					NSCLC(145;2298 2623 35616 37297)	ENST00000539824.1																			0				NS(1)|breast(3)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33						c.(1162-1164)gcG>gcA		SH3 domain and tetratricopeptide repeats 1							35	39	37					4																	8228813		2203	4300	6503	SO:0001819	synonymous_variant	54436						binding	g.chr4:8228813G>A	AK074093	CCDS3399.1	4p16.1	2013-01-11			ENSG00000125089	ENSG00000125089		"Tetratricopeptide (TTC) repeat domain containing"	26009	protein-coding gene	gene with protein product							Standard	NM_018986		Approved	FLJ20356	uc003gkv.4	Q8TE82	OTTHUMG00000160934	ENST00000245105.3:c.1392G>A	4.37:g.8228813G>A						SH3TC1_ENST00000514274.1_3'UTR|SH3TC1_ENST00000245105.3_Silent_p.A464A	p.A388A			Q8TE82	S3TC1_HUMAN			12	1538	+			464					Q4W5G5	Silent	SNP	ENST00000245105.3	37	c.1164G>A	CCDS3399.1																																																																																				0.627	SH3TC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206991.2	NM_018986		13	20	0	0	0	1	0	13	20					A	8228813	G	A	8228813	2	1	348	1	0	0	0	0	0	0	0	1	14261	1132	40	1		1	SH3TC1	4	8228813	Silent	SNP	G	TCGA-KK-A8IL-01A-11D-A364-08		8228813	182925463	13	17561											
ACTBL2	345651	broad.mit.edu	37	chr5	56778416	56778416	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctaccataacgccctggtgtCgaggacgccctatcatggag	9	8	11	13	3	1	0	1	0	0	0	2	3	1	2	3	3	2	0	3	3	3	3			TCGA-KK-A8IL-01A-11D-A364-08	TCGA-KK-A8IL-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	defe4c4d-743a-4352-8020-f614ba5bfe2d	ecf06be2-7f7e-4833-a200-287d4835fec1	g.chr5:56778416C>T	ENST00000423391.1	-	1	220	c.119G>A	c.(118-120)cGa>cAa	p.R40Q	AC025470.1_ENST00000584598.1_RNA|CTD-2023N9.1_ENST00000506106.1_RNA	NM_001017992.3	NP_001017992.1	Q562R1	ACTBL_HUMAN	actin, beta-like 2	40						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)			breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(3)|pancreas(1)|prostate(2)	28		Lung NSC(810;0.000135)|Prostate(74;0.055)|Breast(144;0.0707)|Ovarian(174;0.182)		OV - Ovarian serous cystadenocarcinoma(10;4.24e-37)		GCCCTGGTGTCGAGGACGCCC	0.587																																						ENST00000423391.1																			0				breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(3)|pancreas(1)|prostate(2)	28						c.(118-120)cGa>cAa		actin, beta-like 2							85	59	68					5																	56778416		2203	4300	6503	SO:0001583	missense	345651					cytoplasm|cytoskeleton	ATP binding	g.chr5:56778416C>T		CCDS34163.1	5q11.2	2014-08-08			ENSG00000169067	ENSG00000169067			17780	protein-coding gene	gene with protein product		614835					Standard	NM_001017992		Approved	DKFZp686D0972	uc003jrm.3	Q562R1	OTTHUMG00000162330	ENST00000423391.1:c.119G>A	5.37:g.56778416C>T	ENSP00000416706:p.Arg40Gln					CTD-2023N9.1_ENST00000506106.1_RNA	p.R40Q	NM_001017992.3	NP_001017992.1	Q562R1	ACTBL_HUMAN		OV - Ovarian serous cystadenocarcinoma(10;4.24e-37)	1	220	-		Lung NSC(810;0.000135)|Prostate(74;0.055)|Breast(144;0.0707)|Ovarian(174;0.182)	40					B2RPJ1|Q562R2|Q562S9|Q562X8	Missense_Mutation	SNP	ENST00000423391.1	37	c.119G>A	CCDS34163.1	.	.	.	.	.	.	.	.	.	.	C	18.20	3.571351	0.65765	.	.	ENSG00000169067	ENST00000423391	D	0.91521	-2.86	5.16	5.16	0.70880	.	0.000000	0.64402	D	0.000012	D	0.95576	0.8562	M	0.89353	3.025	0.48975	D	0.999738	D	0.63880	0.993	D	0.63703	0.917	D	0.96121	0.9085	10	0.87932	D	0	.	16.1712	0.81817	0.0:1.0:0.0:0.0	.	40	Q562R1	ACTBL_HUMAN	Q	40	ENSP00000416706:R40Q	ENSP00000416706:R40Q	R	-	2	0	ACTBL2	56814173	0.695000	0.27747	0.996000	0.52242	0.892000	0.51952	4.674000	0.61612	2.669000	0.90835	0.563000	0.77884	CGA		0.587	ACTBL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368579.1	NM_001017992		6	16	0	0	0	1	0	6	16					T	56778416	C	T	56778416	3	4	348	1	0	0	0	0	1	0	0	0	194	884	31	2	1015	2	ACTBL2	5	56778416	Missense_Mutation	SNP	C	TCGA-KK-A8IL-01A-11D-A364-08		56778416	124136844	14	17562											
PNRC1	10957	broad.mit.edu	37	chr6	89793533	89793533	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccccatggccagcttgttcAtggtatacacttgtatgagc	8	13	9	11	0	1	1	1	1	0	0	2	1	2	1	3	2	3	4	3	2	3	6			TCGA-KK-A8IL-01A-11D-A364-08	TCGA-KK-A8IL-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	defe4c4d-743a-4352-8020-f614ba5bfe2d	ecf06be2-7f7e-4833-a200-287d4835fec1	g.chr6:89793533A>G	ENST00000336032.3	+	2	719	c.602A>G	c.(601-603)cAt>cGt	p.H201R	PNRC1_ENST00000369472.1_Missense_Mutation_p.H16R|PNRC1_ENST00000354922.3_Missense_Mutation_p.H16R	NM_006813.2	NP_006804.1	Q12796	PNRC1_HUMAN	proline-rich nuclear receptor coactivator 1	201					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				endometrium(1)|large_intestine(2)|lung(3)	6		all_cancers(76;3.64e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00527)		BRCA - Breast invasive adenocarcinoma(108;0.102)		CAGCTTGTTCATGGTATACAC	0.358										Multiple Myeloma(7;0.094)																												ENST00000336032.3																			0				endometrium(1)|large_intestine(2)|lung(3)	6						c.(601-603)cAt>cGt		proline-rich nuclear receptor coactivator 1							59	59	59					6																	89793533		2203	4300	6503	SO:0001583	missense	10957				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	g.chr6:89793533A>G	U03105	CCDS5018.1	6q16.1	2008-02-05	2003-09-25	2003-09-26	ENSG00000146278	ENSG00000146278			17278	protein-coding gene	gene with protein product		606714	"proline rich 2"	PROL2		7578250	Standard	NM_006813		Approved	B4-2, PRR2	uc003pmv.3	Q12796	OTTHUMG00000015191	ENST00000336032.3:c.602A>G	6.37:g.89793533A>G	ENSP00000336931:p.His201Arg	Multiple Myeloma(7;0.094)				PNRC1_ENST00000354922.3_Missense_Mutation_p.H16R|PNRC1_ENST00000369472.1_Missense_Mutation_p.H16R	p.H201R	NM_006813.2	NP_006804.1	Q12796	PNRC1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.102)	2	719	+		all_cancers(76;3.64e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00527)	201					B2R6Q0|E1P515|Q5T7J6|Q7Z5N0	Missense_Mutation	SNP	ENST00000336032.3	37	c.602A>G	CCDS5018.1	.	.	.	.	.	.	.	.	.	.	A	11.77	1.739131	0.30774	.	.	ENSG00000146278	ENST00000369472;ENST00000336032;ENST00000354922	T;T;T	0.50277	0.94;0.75;0.94	5.73	3.24	0.37175	.	0.274240	0.40908	D	0.000996	T	0.15739	0.0379	L	0.29908	0.895	0.31871	N	0.6198	B	0.10296	0.003	B	0.11329	0.006	T	0.07616	-1.0763	10	0.39692	T	0.17	-3.6829	7.6137	0.28145	0.7883:0.1392:0.0725:0.0	.	201	Q12796	PNRC1_HUMAN	R	16;201;16	ENSP00000358484:H16R;ENSP00000336931:H201R;ENSP00000347000:H16R	ENSP00000336931:H201R	H	+	2	0	PNRC1	89850252	1.000000	0.71417	0.997000	0.53966	0.998000	0.95712	5.637000	0.67854	0.939000	0.37446	0.533000	0.62120	CAT		0.358	PNRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041471.1	NM_006813		20	45	0	0	0	1	0	20	45					G	89793533	A	G	89793533	3	3	348	1	0	0	0	0	1	0	0	0	12174	217	8	4	608	4	PNRC1	6	89793533	Missense_Mutation	SNP	A	TCGA-KK-A8IL-01A-11D-A364-08		89793533	81321534	15	17563											
ZNF804B	219578	broad.mit.edu	37	chr7	88963984	88963984	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cagtgattctgagccaaataAgagtgaatatactttcagtg	14	12	9	6	0	2	4	1	3	1	1	2	4	2	4	1	0	2	0	1	0	5	5			TCGA-KK-A8IL-01A-11D-A364-08	TCGA-KK-A8IL-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	defe4c4d-743a-4352-8020-f614ba5bfe2d	ecf06be2-7f7e-4833-a200-287d4835fec1	g.chr7:88963984A>C	ENST00000333190.4	+	4	2297	c.1688A>C	c.(1687-1689)aAg>aCg	p.K563T		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	563							metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			GAGCCAAATAAGAGTGAATAT	0.348										HNSCC(36;0.09)																												ENST00000333190.4																			0				NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144						c.(1687-1689)aAg>aCg		zinc finger protein 804B							42	45	44					7																	88963984		2193	4294	6487	SO:0001583	missense	219578					intracellular	zinc ion binding	g.chr7:88963984A>C	AK056672	CCDS5613.1	7q21.13	2012-10-05	2006-12-18		ENSG00000182348	ENSG00000182348			21958	protein-coding gene	gene with protein product			"zinc finger 804B"				Standard	NM_181646		Approved	FLJ32110	uc011khi.2	A4D1E1	OTTHUMG00000131037	ENST00000333190.4:c.1688A>C	7.37:g.88963984A>C	ENSP00000329638:p.Lys563Thr	HNSCC(36;0.09)					p.K563T	NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	STAD - Stomach adenocarcinoma(171;0.0513)		4	2297	+	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		563					B2RTV2|Q7Z714|Q96MN7	Missense_Mutation	SNP	ENST00000333190.4	37	c.1688A>C	CCDS5613.1	.	.	.	.	.	.	.	.	.	.	A	0.066	-1.212398	0.01555	.	.	ENSG00000182348	ENST00000333190	T	0.05139	3.49	5.49	-3.08	0.05347	.	1.092620	0.06785	N	0.786046	T	0.02494	0.0076	N	0.03608	-0.345	0.09310	N	1	B	0.12013	0.005	B	0.04013	0.001	T	0.48479	-0.9032	10	0.15952	T	0.53	2.4248	6.7737	0.23609	0.3045:0.3827:0.0:0.3128	.	563	A4D1E1	Z804B_HUMAN	T	563	ENSP00000329638:K563T	ENSP00000329638:K563T	K	+	2	0	ZNF804B	88801920	0.000000	0.05858	0.000000	0.03702	0.029000	0.11900	-0.087000	0.11215	-0.678000	0.05224	0.533000	0.62120	AAG		0.348	ZNF804B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253683.2	NM_181646		14	43	0	0	0	1	0	14	43					C	88963984	A	C	88963984	3	2	348	1	0	0	0	0	1	0	0	0	18168	72	3	5	1702	5	ZNF804B	7	88963984	Missense_Mutation	SNP	A	TCGA-KK-A8IL-01A-11D-A364-08		88963984	70174679	16	17564											
RELN	5649	broad.mit.edu	37	chr7	103234230	103234230	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cattgctgatggtgtggcagCacagaaggtttcatttttaa	10	14	11	6	0	1	2	1	1	0	1	1	2	1	2	0	3	2	4	0	3	2	5			TCGA-KK-A8IL-01A-11D-A364-08	TCGA-KK-A8IL-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	defe4c4d-743a-4352-8020-f614ba5bfe2d	ecf06be2-7f7e-4833-a200-287d4835fec1	g.chr7:103234230C>A	ENST00000428762.1	-	27	3970	c.3811G>T	c.(3811-3813)Gct>Tct	p.A1271S	RELN_ENST00000424685.2_Missense_Mutation_p.A1271S|RELN_ENST00000343529.5_Missense_Mutation_p.A1271S	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	1271					associative learning (GO:0008306)|axon guidance (GO:0007411)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|central nervous system development (GO:0007417)|cerebral cortex tangential migration (GO:0021800)|dendrite development (GO:0016358)|glial cell differentiation (GO:0010001)|hippocampus development (GO:0021766)|lateral motor column neuron migration (GO:0097477)|layer formation in cerebral cortex (GO:0021819)|long-term memory (GO:0007616)|N-methyl-D-aspartate receptor clustering (GO:0097114)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of lateral motor column neuron migration (GO:1902078)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of TOR signaling (GO:0032008)|postsynaptic density protein 95 clustering (GO:0097119)|receptor localization to synapse (GO:0097120)|reelin-mediated signaling pathway (GO:0038026)|regulation of behavior (GO:0050795)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of synaptic transmission (GO:0050804)|response to pain (GO:0048265)|spinal cord patterning (GO:0021511)|ventral spinal cord development (GO:0021517)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	lipoprotein particle receptor binding (GO:0070325)|metal ion binding (GO:0046872)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|serine-type peptidase activity (GO:0008236)|very-low-density lipoprotein particle receptor binding (GO:0070326)			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		GGTGTGGCAGCACAGAAGGTT	0.398																																					NSCLC(146;835 1944 15585 22231 52158)	ENST00000424685.2																			0				NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227						c.(3811-3813)Gct>Tct		reelin							162	146	151					7																	103234230		2203	4300	6503	SO:0001583	missense	5649				axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity	g.chr7:103234230C>A		CCDS34722.1, CCDS47680.1	7q22	2008-07-18			ENSG00000189056	ENSG00000189056			9957	protein-coding gene	gene with protein product		600514				9049633	Standard	NM_005045		Approved	RL, PRO1598	uc010liz.3	P78509	OTTHUMG00000157247	ENST00000428762.1:c.3811G>T	7.37:g.103234230C>A	ENSP00000392423:p.Ala1271Ser					RELN_ENST00000343529.5_Missense_Mutation_p.A1271S|RELN_ENST00000428762.1_Missense_Mutation_p.A1271S	p.A1271S			P78509	RELN_HUMAN		COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)	27	3970	-			1271					A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Missense_Mutation	SNP	ENST00000428762.1	37	c.3811G>T	CCDS47680.1	.	.	.	.	.	.	.	.	.	.	C	3.650	-0.071812	0.07228	.	.	ENSG00000189056	ENST00000428762;ENST00000343529;ENST00000424685;ENST00000448171	T;T;T	0.21031	2.03;2.03;2.03	6.07	5.05	0.67936	.	0.318635	0.34853	N	0.003637	T	0.06280	0.0162	N	0.00621	-1.32	0.36253	D	0.854035	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.22941	-1.0202	10	0.12766	T	0.61	.	12.002	0.53237	0.752:0.248:0.0:0.0	.	1271;1271	P78509-2;P78509	.;RELN_HUMAN	S	1271	ENSP00000392423:A1271S;ENSP00000345694:A1271S;ENSP00000388446:A1271S	ENSP00000345694:A1271S	A	-	1	0	RELN	103021466	1.000000	0.71417	0.995000	0.50966	0.985000	0.73830	3.235000	0.51328	1.349000	0.45751	0.655000	0.94253	GCT		0.398	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348148.1	NM_005045		4	53	1	0	0.150653	1	0.153344	4	53					A	103234230	C	A	103234230	3	1	348	1	0	0	0	0	1	0	0	0	13220	710	25	5	6727	5	RELN	7	103234230	Missense_Mutation	SNP	C	TCGA-KK-A8IL-01A-11D-A364-08	14270246	103234230	55904433	17	17565											
PPP1R3A	5506	broad.mit.edu	37	chr7	113519341	113519341	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gcgctgccttcactagtcaaAtgatgatgctctggggttaa	9	12	11	9	1	3	2	2	2	1	0	3	2	3	2	1	2	2	3	1	2	3	3			TCGA-KK-A8IL-01A-11D-A364-08	TCGA-KK-A8IL-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	defe4c4d-743a-4352-8020-f614ba5bfe2d	ecf06be2-7f7e-4833-a200-287d4835fec1	g.chr7:113519341A>G	ENST00000284601.3	-	4	1874	c.1806T>C	c.(1804-1806)caT>caC	p.H602H		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	602					glycogen metabolic process (GO:0005977)	integral component of membrane (GO:0016021)				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						CACTAGTCAAATGATGATGCT	0.433																																						ENST00000284601.3																			0				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						c.(1804-1806)caT>caC		protein phosphatase 1, regulatory subunit 3A							123	119	120					7																	113519341		2203	4300	6503	SO:0001819	synonymous_variant	5506				glycogen metabolic process	integral to membrane		g.chr7:113519341A>G	AF024578	CCDS5759.1	7q31.1	2012-04-17	2011-10-04	2001-07-02	ENSG00000154415	ENSG00000154415	3.1.3.16	"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	9291	protein-coding gene	gene with protein product	"glycogen-associated regulatory subunit of protein phosphatase-1", "protein phosphatase 1 regulatory subunit GM"	600917	"protein phosphatase 1, regulatory (inhibitor) subunit 3A (glycogen and sarcoplasmic reticulum binding subunit, skeletal muscle)", "protein phosphatase 1, regulatory (inhibitor) subunit 3A"	PPP1R3		7926294	Standard	NM_002711		Approved	GM	uc010ljy.1	Q16821	OTTHUMG00000156944	ENST00000284601.3:c.1806T>C	7.37:g.113519341A>G							p.H602H	NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN			4	1874	-			602					A0AVQ2|A4D0T6|O43476|Q75LN8|Q7KYM8|Q86UI6	Silent	SNP	ENST00000284601.3	37	c.1806T>C	CCDS5759.1																																																																																				0.433	PPP1R3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346724.1	NM_002711		6	104	0	0	0	1	0	6	104					G	113519341	A	G	113519341	2	3	348	1	0	0	0	0	0	0	0	1	12371	98	4	4		4	PPP1R3A	7	113519341	Silent	SNP	A	TCGA-KK-A8IL-01A-11D-A364-08	10285111	113519341	45619322	18	17566											
CDK5	1020	broad.mit.edu	37	chr7	150752434	150752434	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttggccccaaagaggacatcCggtgggcggtaccacagtgt	9	7	14	11	2	0	1	0	0	0	1	1	2	1	2	4	5	1	1	4	5	2	2			TCGA-KK-A8IL-01A-11D-A364-08	TCGA-KK-A8IL-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	defe4c4d-743a-4352-8020-f614ba5bfe2d	ecf06be2-7f7e-4833-a200-287d4835fec1	g.chr7:150752434C>T	ENST00000485972.1	-	8	1191	c.510G>A	c.(508-510)ccG>ccA	p.P170P	SLC4A2_ENST00000485713.1_5'Flank|CDK5_ENST00000297518.4_Silent_p.P138P	NM_004935.3	NP_004926.1	Q00535	CDK5_HUMAN	cyclin-dependent kinase 5	170	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon extension (GO:0048675)|axon guidance (GO:0007411)|behavioral response to cocaine (GO:0048148)|blood coagulation (GO:0007596)|calcium ion import (GO:0070509)|cell cycle (GO:0007049)|cell division (GO:0051301)|cell proliferation (GO:0008283)|cell-matrix adhesion (GO:0007160)|central nervous system neuron development (GO:0021954)|cerebellar cortex formation (GO:0021697)|corpus callosum development (GO:0022038)|cortical actin cytoskeleton organization (GO:0030866)|dendrite morphogenesis (GO:0048813)|embryo development (GO:0009790)|hippocampus development (GO:0021766)|intracellular protein transport (GO:0006886)|layer formation in cerebral cortex (GO:0021819)|motor neuron axon guidance (GO:0008045)|negative regulation of axon extension (GO:0030517)|negative regulation of cell cycle (GO:0045786)|negative regulation of neuron death (GO:1901215)|negative regulation of protein export from nucleus (GO:0046826)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of proteolysis (GO:0045861)|negative regulation of synaptic plasticity (GO:0031914)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron apoptotic process (GO:0051402)|neuron differentiation (GO:0030182)|neuron migration (GO:0001764)|neuron projection development (GO:0031175)|nucleocytoplasmic transport (GO:0006913)|oligodendrocyte differentiation (GO:0048709)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|phosphorylation (GO:0016310)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of calcium ion-dependent exocytosis (GO:0045956)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of protein binding (GO:0032092)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein targeting to membrane (GO:0090314)|protein autophosphorylation (GO:0046777)|protein localization to synapse (GO:0035418)|receptor catabolic process (GO:0032801)|receptor clustering (GO:0043113)|regulated secretory pathway (GO:0045055)|regulation of apoptotic process (GO:0042981)|regulation of cell cycle arrest (GO:0071156)|regulation of cell migration (GO:0030334)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of synaptic plasticity (GO:0048167)|rhythmic process (GO:0048511)|Schwann cell development (GO:0014044)|sensory perception of pain (GO:0019233)|serine phosphorylation of STAT3 protein (GO:0033136)|skeletal muscle tissue development (GO:0007519)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic transmission, dopaminergic (GO:0001963)|synaptic transmission, glutamatergic (GO:0035249)|synaptic vesicle endocytosis (GO:0048488)|synaptic vesicle exocytosis (GO:0016079)|visual learning (GO:0008542)	axon (GO:0030424)|cell junction (GO:0030054)|cyclin-dependent protein kinase 5 holoenzyme complex (GO:0016533)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|filopodium (GO:0030175)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|membrane (GO:0016020)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	acetylcholine receptor activator activity (GO:0030549)|ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|ErbB-2 class receptor binding (GO:0005176)|ErbB-3 class receptor binding (GO:0043125)|kinase activity (GO:0016301)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|tau-protein kinase activity (GO:0050321)	p.P170P(1)		central_nervous_system(1)|endometrium(2)|lung(5)|urinary_tract(1)	9		Breast(660;0.159)|Ovarian(593;0.182)	OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)|LUSC - Lung squamous cell carcinoma(290;0.008)|Lung(243;0.00942)|BRCA - Breast invasive adenocarcinoma(188;0.242)		AGAGGACATCCGGTGGGCGGT	0.612																																						ENST00000485972.1																			1	Substitution - coding silent(1)	p.P170P(1)	lung(1)	central_nervous_system(1)|endometrium(2)|lung(5)|urinary_tract(1)	9						c.(508-510)ccG>ccA		cyclin-dependent kinase 5							67	72	70					7																	150752434		2001	4165	6166	SO:0001819	synonymous_variant	1020				activation of pro-apoptotic gene products|blood coagulation|cell division|cell proliferation|embryo development|negative regulation of transcription, DNA-dependent|positive regulation of neuron apoptosis	axon|cytosol|dendrite|growth cone|lamellipodium|membrane|neuromuscular junction|neuronal cell body	acetylcholine receptor activator activity|ATP binding|cyclin-dependent protein kinase activity|ErbB-2 class receptor binding|ErbB-3 class receptor binding|tau-protein kinase activity	g.chr7:150752434C>T	X66364	CCDS47748.1, CCDS55184.1	7q36	2011-11-08			ENSG00000164885	ENSG00000164885		"Cyclin-dependent kinases"	1774	protein-coding gene	gene with protein product		123831				8275715, 1639063	Standard	NM_001164410		Approved	PSSALRE	uc003wir.2	Q00535	OTTHUMG00000158414	ENST00000485972.1:c.510G>A	7.37:g.150752434C>T						CDK5_ENST00000297518.4_Silent_p.P138P	p.P170P	NM_004935.3	NP_004926.1	Q00535	CDK5_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)|LUSC - Lung squamous cell carcinoma(290;0.008)|Lung(243;0.00942)|BRCA - Breast invasive adenocarcinoma(188;0.242)	8	1191	-		Breast(660;0.159)|Ovarian(593;0.182)	170			Protein kinase.		A1XKG3	Silent	SNP	ENST00000485972.1	37	c.510G>A	CCDS47748.1																																																																																				0.612	CDK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350965.3			13	24	0	0	0	1	0	13	24					T	150752434	C	T	150752434	2	4	348	1	0	0	0	0	0	0	0	1	3142	639	23	2		2	CDK5	7	150752434	Silent	SNP	C	TCGA-KK-A8IL-01A-11D-A364-08	37233093	150752434	8386229	19	17567											
MLL3	58508	broad.mit.edu	37	chr7	151845543	151845555	+	Frame_Shift_Del	DEL	TTAATGGCGCAAG	TTAATGGCGCAAG	-																															taaaaaacatgcattgtgctTtaatggcgcaagtgaagtga																								rs138230031		TCGA-KK-A8IL-01A-11D-A364-08	TCGA-KK-A8IL-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	defe4c4d-743a-4352-8020-f614ba5bfe2d	ecf06be2-7f7e-4833-a200-287d4835fec1	g.chr7:151845543_151845555delTTAATGGCGCAAG	ENST00000262189.6	-	52	13675_13687	c.13457_13469delCTTGCGCCATTAA	c.(13456-13470)acttgcgccattaaafs	p.TCAIK4486fs	KMT2C_ENST00000355193.2_Frame_Shift_Del_p.TCAIK4543fs	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	4486					histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										GCATTGTGCTTTAATGGCGCAAGTGAAGTGATA	0.432																																						ENST00000355193.2																			0											c.(13627-13641)aafs		lysine (K)-specific methyltransferase 2C																																				SO:0001589	frameshift_variant	58508							g.chr7:151845543_151845555delTTAATGGCGCAAG	AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	13726	protein-coding gene	gene with protein product		606833	"myeloid/lymphoid or mixed-lineage leukemia 3"	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.13457_13469delCTTGCGCCATTAA	7.37:g.151845543_151845555delTTAATGGCGCAAG	ENSP00000262189:p.Thr4486fs					KMT2C_ENST00000262189.6_Frame_Shift_Del_p.TCAIK4486fs	p.TCAIK4543fs							53	13846_13858	-								Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Frame_Shift_Del	DEL	ENST00000262189.6	37	c.13628_13640delCTTGCGCCATTAA	CCDS5931.1																																																																																				0.432	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3			30	97						30	97	---	---	---	---	-	151845555	TTAATGGCGCAAG	-	151845543	7	5	348	1	0	1	0	1	0	0	0	0	9622	1841	64	0	1298	0	MLL3	7	151845543	Frame_Shift_Del	DEL	TTAATGGCGCAAG	TCGA-KK-A8IL-01A-11D-A364-08	1093109	151845543	7293120	20	17568											
RP1L1	94137	broad.mit.edu	37	chr8	10468857	10468857	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcggacagcccccgagacccCgcaccctggctggcactgct	6	5	11	19	3	0	1	0	0	0	1	1	3	0	2	5	3	2	4	5	3	0	0	rs373883834		TCGA-KK-A8IL-01A-11D-A364-08	TCGA-KK-A8IL-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	defe4c4d-743a-4352-8020-f614ba5bfe2d	ecf06be2-7f7e-4833-a200-287d4835fec1	g.chr8:10468857C>T	ENST00000382483.3	-	4	2974	c.2751G>A	c.(2749-2751)gcG>gcA	p.A917A		NM_178857.5	NP_849188.4	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	917					cell projection organization (GO:0030030)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|visual perception (GO:0007601)	axoneme (GO:0005930)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|photoreceptor connecting cilium (GO:0032391)|photoreceptor outer segment (GO:0001750)				breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		CCCGAGACCCCGCACCCTGGC	0.706																																						ENST00000382483.3																			0				breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148						c.(2749-2751)gcG>gcA		retinitis pigmentosa 1-like 1		C		1,3885		0,1,1942	16	20	18		2751	-0.5	0	8		18	1,8215		0,1,4107	no	coding-synonymous	RP1L1	NM_178857.5		0,2,6049	TT,TC,CC		0.0122,0.0257,0.0165		917/2401	10468857	2,12100	1943	4108	6051	SO:0001819	synonymous_variant	94137				intracellular signal transduction			g.chr8:10468857C>T	AY168346	CCDS43708.1	8p23.1	2011-12-06			ENSG00000183638	ENSG00000183638			15946	protein-coding gene	gene with protein product		608581				12634863	Standard	NM_178857		Approved	DCDC4B	uc003wtc.3	Q8IWN7	OTTHUMG00000163806	ENST00000382483.3:c.2751G>A	8.37:g.10468857C>T							p.A917A	NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN		COAD - Colon adenocarcinoma(149;0.0811)	4	2974	-			917					Q86SQ1|Q8IWN8|Q8IWN9|Q8IWP0|Q8IWP1|Q8IWP2	Silent	SNP	ENST00000382483.3	37	c.2751G>A	CCDS43708.1																																																																																				0.706	RP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375673.1			3	17	0	0	0	1	0	3	17					T	10468857	C	T	10468857	2	4	348	1	0	0	0	0	0	0	0	1	13533	639	23	2		2	RP1L1	8	10468857	Silent	SNP	C	TCGA-KK-A8IL-01A-11D-A364-08		10468857	135895165	21	17569											
LPL	4023	broad.mit.edu	37	chr8	19810847	19810847	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttaactaccctctggacaaTgtccatctcttgggatacag	10	13	7	11	0	2	0	0	0	2	0	4	2	3	2	2	2	3	0	2	2	4	5	rs116678290	byFrequency	TCGA-KK-A8IL-01A-11D-A364-08	TCGA-KK-A8IL-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	defe4c4d-743a-4352-8020-f614ba5bfe2d	ecf06be2-7f7e-4833-a200-287d4835fec1	g.chr8:19810847T>A	ENST00000311322.8	+	4	926	c.456T>A	c.(454-456)aaT>aaA	p.N152K		NM_000237.2	NP_000228.1	P06858	LIPL_HUMAN	lipoprotein lipase	152					chylomicron remodeling (GO:0034371)|fatty acid biosynthetic process (GO:0006633)|lipoprotein metabolic process (GO:0042157)|phospholipid metabolic process (GO:0006644)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of sequestering of triglyceride (GO:0010890)|response to cold (GO:0009409)|response to drug (GO:0042493)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|triglyceride catabolic process (GO:0019433)|triglyceride homeostasis (GO:0070328)|triglyceride metabolic process (GO:0006641)|very-low-density lipoprotein particle remodeling (GO:0034372)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|chylomicron (GO:0042627)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	apolipoprotein binding (GO:0034185)|heparin binding (GO:0008201)|lipoprotein lipase activity (GO:0004465)|phospholipase activity (GO:0004620)|receptor binding (GO:0005102)|triglyceride binding (GO:0017129)|triglyceride lipase activity (GO:0004806)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	36				Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216)	AST-120(DB05269)|Tyloxapol(DB06439)	CTCTGGACAATGTCCATCTCT	0.383																																						ENST00000311322.8																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	36						c.(454-456)aaT>aaA		lipoprotein lipase	Clofibrate(DB00636)|Gemfibrozil(DB01241)|Orlistat(DB01083)						105	103	103					8																	19810847		2203	4300	6503	SO:0001583	missense	4023				fatty acid biosynthetic process|lipoprotein metabolic process|phospholipid metabolic process|positive regulation of cholesterol storage|positive regulation of sequestering of triglyceride|triglyceride catabolic process|triglyceride homeostasis|very-low-density lipoprotein particle remodeling	anchored to membrane|chylomicron|plasma membrane|very-low-density lipoprotein particle	heparin binding|lipoprotein lipase activity|phospholipase activity|receptor binding|triglyceride lipase activity	g.chr8:19810847T>A		CCDS6012.1	8p22	2012-10-02			ENSG00000175445	ENSG00000175445	3.1.1.34		6677	protein-coding gene	gene with protein product		609708		LIPD			Standard	NM_000237		Approved		uc003wzk.4	P06858	OTTHUMG00000036645	ENST00000311322.8:c.456T>A	8.37:g.19810847T>A	ENSP00000309757:p.Asn152Lys						p.N152K	NM_000237.2	NP_000228.1	P06858	LIPL_HUMAN		Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216)	4	926	+			152					B2R5T9|Q16282|Q16283|Q96FC4	Missense_Mutation	SNP	ENST00000311322.8	37	c.456T>A	CCDS6012.1	.	.	.	.	.	.	.	.	.	.	T	12.54	1.967855	0.34754	.	.	ENSG00000175445	ENST00000520959;ENST00000311322;ENST00000538071;ENST00000535763	D;D	0.89939	-2.59;-2.59	5.96	-1.22	0.09494	Lipase, N-terminal (1);	0.168298	0.64402	D	0.000004	T	0.78521	0.4296	N	0.25485	0.75	0.36049	D	0.840665	B	0.12013	0.005	B	0.20955	0.032	T	0.67715	-0.5599	8	.	.	.	-39.6145	10.7325	0.46104	0.0:0.465:0.0:0.5349	.	152	P06858	LIPL_HUMAN	K	76;152;76;138	ENSP00000428496:N76K;ENSP00000309757:N152K	.	N	+	3	2	LPL	19855127	0.000000	0.05858	0.997000	0.53966	0.993000	0.82548	-2.227000	0.01210	-0.081000	0.12662	-0.378000	0.06908	AAT		0.383	LPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089113.3			23	46	0	0	0	1	0	23	46					A	19810847	T	A	19810847	3	1	348	1	0	0	0	0	1	0	0	0	8921	1461	51	5	470	5	LPL	8	19810847	Missense_Mutation	SNP	T	TCGA-KK-A8IL-01A-11D-A364-08	9341990	19810847	126553175	22	17570											
CA2	760	broad.mit.edu	37	chr8	86386565	86386565	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggccttagcttcacttggttCactggaacaccaaatatggg	10	11	10	10	0	2	0	2	0	0	0	2	1	2	1	2	4	2	2	2	4	4	5			TCGA-KK-A8IL-01A-11D-A364-08	TCGA-KK-A8IL-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	defe4c4d-743a-4352-8020-f614ba5bfe2d	ecf06be2-7f7e-4833-a200-287d4835fec1	g.chr8:86386565C>T	ENST00000285379.5	+	4	594	c.364C>T	c.(364-366)Cac>Tac	p.H122Y		NM_000067.2	NP_000058.1	P00918	CAH2_HUMAN	carbonic anhydrase II	122					angiotensin-activated signaling pathway (GO:0038166)|bicarbonate transport (GO:0015701)|kidney development (GO:0001822)|morphogenesis of an epithelium (GO:0002009)|odontogenesis of dentin-containing tooth (GO:0042475)|one-carbon metabolic process (GO:0006730)|positive regulation of bone resorption (GO:0045780)|positive regulation of cellular pH reduction (GO:0032849)|positive regulation of dipeptide transmembrane transport (GO:2001150)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|regulation of anion transport (GO:0044070)|regulation of chloride transport (GO:2001225)|regulation of intracellular pH (GO:0051453)|response to estrogen (GO:0043627)|response to pH (GO:0009268)|response to zinc ion (GO:0010043)|secretion (GO:0046903)|small molecule metabolic process (GO:0044281)	apical part of cell (GO:0045177)|axon (GO:0030424)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|microvillus (GO:0005902)|myelin sheath (GO:0043209)|plasma membrane (GO:0005886)	carbonate dehydratase activity (GO:0004089)|zinc ion binding (GO:0008270)			central_nervous_system(2)|cervix(1)|large_intestine(2)|lung(5)|prostate(1)	11					Acetazolamide(DB00819)|Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Brinzolamide(DB01194)|Chlorothiazide(DB00880)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Diclofenamide(DB01144)|Dorzolamide(DB00869)|Ethinamate(DB01031)|Furosemide(DB00695)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methazolamide(DB00703)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Topiramate(DB00273)|Trichlormethiazide(DB01021)|Zonisamide(DB00909)	TCACTTGGTTCACTGGAACAC	0.408																																						ENST00000285379.5																			0				central_nervous_system(2)|cervix(1)|large_intestine(2)|lung(5)|prostate(1)	11						c.(364-366)Cac>Tac		carbonic anhydrase II	Acetazolamide(DB00819)|Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Brinzolamide(DB01194)|Chlorothiazide(DB00880)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Dorzolamide(DB00869)|Ethinamate(DB01031)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Topiramate(DB00273)|Trichlormethiazide(DB01021)						159	167	164					8																	86386565		2203	4300	6503	SO:0001583	missense	760				one-carbon metabolic process	apical part of cell	carbonate dehydratase activity|zinc ion binding	g.chr8:86386565C>T	J03037	CCDS6239.1	8q21.2	2012-10-02			ENSG00000104267	ENSG00000104267	4.2.1.1	"Carbonic anhydrases"	1373	protein-coding gene	gene with protein product		611492				3107918	Standard	NM_000067		Approved	Car2, CA-II, CAII	uc003ydk.2	P00918	OTTHUMG00000164944	ENST00000285379.5:c.364C>T	8.37:g.86386565C>T	ENSP00000285379:p.His122Tyr						p.H122Y	NM_000067.2	NP_000058.1	P00918	CAH2_HUMAN			4	594	+			122					B2R7G8|Q6FI12|Q96ET9	Missense_Mutation	SNP	ENST00000285379.5	37	c.364C>T	CCDS6239.1	.	.	.	.	.	.	.	.	.	.	C	18.55	3.647780	0.67358	.	.	ENSG00000104267	ENST00000285379	T	0.78924	-1.22	5.67	4.76	0.60689	Carbonic anhydrase, alpha-class, catalytic domain (4);	0.000000	0.85682	D	0.000000	D	0.90480	0.7018	M	0.93678	3.445	0.80722	D	1	D	0.76494	0.999	D	0.72982	0.979	D	0.92599	0.6089	10	0.87932	D	0	-21.313	15.1538	0.72723	0.1413:0.8587:0.0:0.0	.	122	P00918	CAH2_HUMAN	Y	122	ENSP00000285379:H122Y	ENSP00000285379:H122Y	H	+	1	0	CA2	86573817	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	7.794000	0.85869	2.660000	0.90430	0.650000	0.86243	CAC		0.408	CA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381097.2	NM_000067		25	56	0	0	0	1	0	25	56					T	86386565	C	T	86386565	3	4	348	1	0	0	0	0	1	0	0	0	2516	826	29	3	378	3	CA2	8	86386565	Missense_Mutation	SNP	C	TCGA-KK-A8IL-01A-11D-A364-08	66575718	86386565	59977457	23	17571											
MCM10	55388	broad.mit.edu	37	chr10	13240783	13240783	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaatcctaaaagcaaaatcAaaacacacaggcatcctgaa	22	5	4	10	0	1	1	1	1	0	0	3	1	3	1	2	1	2	2	2	1	9	1			TCGA-KK-A8IL-01A-11D-A364-08	TCGA-KK-A8IL-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	defe4c4d-743a-4352-8020-f614ba5bfe2d	ecf06be2-7f7e-4833-a200-287d4835fec1	g.chr10:13240783A>G	ENST00000484800.2	+	16	2320	c.2217A>G	c.(2215-2217)tcA>tcG	p.S739S	MCM10_ENST00000378714.3_Silent_p.S738S|MCM10_ENST00000378694.1_Silent_p.S738S			Q7L590	MCM10_HUMAN	minichromosome maintenance complex component 10	739					cell proliferation (GO:0008283)|DNA replication (GO:0006260)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)			central_nervous_system(1)|large_intestine(4)|ovary(2)|skin(1)|stomach(1)	9						AAGCAAAATCAAAACACACAG	0.453																																						ENST00000378694.1																			0				central_nervous_system(1)|large_intestine(4)|ovary(2)|skin(1)|stomach(1)	9						c.(2212-2214)tcA>tcG		minichromosome maintenance complex component 10							76	74	75					10																	13240783		2203	4300	6503	SO:0001819	synonymous_variant	55388				cell cycle checkpoint|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle	nucleoplasm	metal ion binding|protein binding	g.chr10:13240783A>G	AB042719	CCDS7095.1, CCDS7096.1	10p13	2008-08-01	2007-04-04		ENSG00000065328	ENSG00000065328			18043	protein-coding gene	gene with protein product		609357	"MCM10 minichromosome maintenance deficient 10 (S. cerevisiae)"			11095689, 17699597	Standard	NM_018518		Approved	PRO2249, CNA43, DNA43	uc001ima.3	Q7L590	OTTHUMG00000017694	ENST00000484800.2:c.2217A>G	10.37:g.13240783A>G						MCM10_ENST00000484800.2_Silent_p.S739S|MCM10_ENST00000378714.3_Silent_p.S738S	p.S738S			Q7L590	MCM10_HUMAN			15	2289	+			739					A8K9I6|B7ZKZ8|Q3MIR3|Q7LD55|Q96GX4|Q96NB6|Q9H0D7|Q9H3P9|Q9P177	Silent	SNP	ENST00000484800.2	37	c.2214A>G	CCDS7096.1																																																																																				0.453	MCM10-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356853.1	NM_182751		12	28	0	0	0	1	0	12	28					G	13240783	A	G	13240783	2	3	348	1	0	0	0	0	0	0	0	1	9385	117	5	4		4	MCM10	10	13240783	Silent	SNP	A	TCGA-KK-A8IL-01A-11D-A364-08		13240783	122293964	24	17572											
CUBN	8029	broad.mit.edu	37	chr10	16946102	16946102	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	aaagtctccacatcaggggcCcatcagcatcacctgaacaa	14	6	7	14	0	4	1	3	1	1	0	5	1	4	1	3	2	2	1	3	2	3	0			TCGA-KK-A8IL-01A-11D-A364-08	TCGA-KK-A8IL-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	defe4c4d-743a-4352-8020-f614ba5bfe2d	ecf06be2-7f7e-4833-a200-287d4835fec1	g.chr10:16946102C>T	ENST00000377833.4	-	51	7990	c.7925G>A	c.(7924-7926)gGg>gAg	p.G2642E		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	2642	CUB 19. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cholesterol metabolic process (GO:0008203)|cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|tissue homeostasis (GO:0001894)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|cobalamin binding (GO:0031419)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)|transporter activity (GO:0005215)			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	CATCAGGGGCCCATCAGCATC	0.373																																						ENST00000377833.4																			0				breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241						c.(7924-7926)gGg>gAg		cubilin (intrinsic factor-cobalamin receptor)	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)						89	86	87					10																	16946102		2203	4300	6503	SO:0001583	missense	8029				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity	g.chr10:16946102C>T	AF034611	CCDS7113.1	10p12	2014-09-17			ENSG00000107611	ENSG00000107611			2548	protein-coding gene	gene with protein product		602997		MGA1		9572993, 9478979	Standard	NM_001081		Approved	IFCR, gp280	uc001ioo.3	O60494	OTTHUMG00000017741	ENST00000377833.4:c.7925G>A	10.37:g.16946102C>T	ENSP00000367064:p.Gly2642Glu						p.G2642E	NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN			51	7990	-			2642			CUB 19.		B0YIZ4|Q5VTA6|Q96RU9	Missense_Mutation	SNP	ENST00000377833.4	37	c.7925G>A	CCDS7113.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.962256	0.74016	.	.	ENSG00000107611	ENST00000377833	T	0.29655	1.56	5.21	5.21	0.72293	CUB (5);	0.174753	0.27424	N	0.019433	T	0.52338	0.1728	L	0.56280	1.765	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.40572	-0.9556	10	0.34782	T	0.22	.	19.0983	0.93263	0.0:1.0:0.0:0.0	.	2642	O60494	CUBN_HUMAN	E	2642	ENSP00000367064:G2642E	ENSP00000367064:G2642E	G	-	2	0	CUBN	16986108	1.000000	0.71417	0.872000	0.34217	0.554000	0.35429	6.662000	0.74426	2.579000	0.87056	0.591000	0.81541	GGG		0.373	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047009.1	NM_001081		16	39	0	0	0	1	0	16	39					T	16946102	C	T	16946102	3	4	348	1	0	0	0	0	1	0	0	0	4051	623	22	3	3014	3	CUBN	10	16946102	Missense_Mutation	SNP	C	TCGA-KK-A8IL-01A-11D-A364-08	3705319	16946102	118588645	25	17573											
GRID1	2894	broad.mit.edu	37	chr10	87966202	87966202	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catgacatcattgaggcggaCgggtggtctcgaagccagtg	9	8	15	9	3	2	2	1	2	1	0	3	4	2	3	1	4	1	0	1	4	1	1	rs368060520		TCGA-KK-A8IL-01A-11D-A364-08	TCGA-KK-A8IL-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	defe4c4d-743a-4352-8020-f614ba5bfe2d	ecf06be2-7f7e-4833-a200-287d4835fec1	g.chr10:87966202C>T	ENST00000327946.7	-	3	524	c.439G>A	c.(439-441)Gtc>Atc	p.V147I		NM_017551.2	NP_060021.1	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1	147					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|social behavior (GO:0035176)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|ionotropic glutamate receptor complex (GO:0008328)|postsynaptic membrane (GO:0045211)	extracellular-glutamate-gated ion channel activity (GO:0005234)|ionotropic glutamate receptor activity (GO:0004970)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106						TTGAGGCGGACGGGTGGTCTC	0.627										Multiple Myeloma(13;0.14)																												ENST00000327946.7																			0				NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106						c.(439-441)Gtc>Atc		glutamate receptor, ionotropic, delta 1	L-Glutamic Acid(DB00142)	C	ILE/VAL	1,4405		0,1,2202	162	112	129		439	5.2	0.9	10		129	0,8600		0,0,4300	no	missense	GRID1	NM_017551.2	29	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	147/1010	87966202	1,13005	2203	4300	6503	SO:0001583	missense	2894					cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity	g.chr10:87966202C>T	AB033046	CCDS31236.1	10q22	2012-08-29			ENSG00000182771	ENSG00000182771		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4575	protein-coding gene	gene with protein product		610659					Standard	NM_017551		Approved	GluD1, KIAA1220	uc001kdl.1	Q9ULK0	OTTHUMG00000018650	ENST00000327946.7:c.439G>A	10.37:g.87966202C>T	ENSP00000330148:p.Val147Ile	Multiple Myeloma(13;0.14)					p.V147I	NM_017551.2	NP_060021.1	Q9ULK0	GRID1_HUMAN			3	524	-			147					B3KXD5|B7Z7L0|Q8IXT3	Missense_Mutation	SNP	ENST00000327946.7	37	c.439G>A	CCDS31236.1	.	.	.	.	.	.	.	.	.	.	C	19.88	3.908508	0.72868	2.27E-4	0.0	ENSG00000182771	ENST00000327946	D	0.82344	-1.6	6.06	5.16	0.70880	Extracellular ligand-binding receptor (1);	0.000000	0.85682	D	0.000000	D	0.86564	0.5963	M	0.66939	2.045	0.80722	D	1	D	0.62365	0.991	P	0.52881	0.712	D	0.87646	0.2525	10	0.59425	D	0.04	.	14.5247	0.67878	0.0:0.9303:0.0:0.0697	.	147	Q9ULK0	GRID1_HUMAN	I	147	ENSP00000330148:V147I	ENSP00000330148:V147I	V	-	1	0	GRID1	87956182	1.000000	0.71417	0.908000	0.35775	0.743000	0.42351	7.813000	0.86123	1.585000	0.49928	0.655000	0.94253	GTC		0.627	GRID1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049148.3	XM_043613		10	33	0	0	0	1	0	10	33					T	87966202	C	T	87966202	3	4	348	1	0	0	0	0	1	0	0	0	6771	536	19	1	2646	1	GRID1	10	87966202	Missense_Mutation	SNP	C	TCGA-KK-A8IL-01A-11D-A364-08	71020100	87966202	47568545	26	17574											
MMRN2	79812	broad.mit.edu	37	chr10	88702686	88702686	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgctcagacatctcctccaGcacctcctccccgaagagcg	8	7	7	19	2	2	2	1	0	1	2	6	3	5	2	6	0	3	2	6	0	1	0			TCGA-KK-A8IL-01A-11D-A364-08	TCGA-KK-A8IL-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	defe4c4d-743a-4352-8020-f614ba5bfe2d	ecf06be2-7f7e-4833-a200-287d4835fec1	g.chr10:88702686G>C	ENST00000372027.5	-	6	2176	c.1855C>G	c.(1855-1857)Ctg>Gtg	p.L619V	MMRN2_ENST00000488950.1_5'Flank	NM_024756.2	NP_079032.2	Q9H8L6	MMRN2_HUMAN	multimerin 2	619					angiogenesis (GO:0001525)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030948)	basement membrane (GO:0005604)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				breast(1)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|skin(1)|stomach(1)	19						ATCTCCTCCAGCACCTCCTCC	0.731																																						ENST00000372027.4																			0				breast(1)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|skin(1)|stomach(1)	19						c.(1855-1857)Ctg>Gtg		multimerin 2							18	16	17					10																	88702686		2192	4282	6474	SO:0001583	missense	79812					extracellular space		g.chr10:88702686G>C	AK023527	CCDS7379.1	10q23.31	2004-03-10	2004-03-02	2004-03-02	ENSG00000173269	ENSG00000173269		"EMI domain containing"	19888	protein-coding gene	gene with protein product		608925	"elastin microfibril interfacer 3"	EMILIN3		11559704	Standard	NM_024756		Approved	EndoGlyx-1, FLJ13465	uc001kea.3	Q9H8L6	OTTHUMG00000018663	ENST00000372027.5:c.1855C>G	10.37:g.88702686G>C	ENSP00000361097:p.Leu619Val						p.L619V	NM_024756.2	NP_079032.2	Q9H8L6	MMRN2_HUMAN			6	1928	-			619					Q504V7|Q6P2N2	Missense_Mutation	SNP	ENST00000372027.5	37	c.1855C>G	CCDS7379.1	.	.	.	.	.	.	.	.	.	.	G	8.417	0.845412	0.16963	.	.	ENSG00000173269	ENST00000372027;ENST00000443699	T	0.25085	1.82	5.24	-10.5	0.00291	.	1.573380	0.03946	N	0.287629	T	0.13628	0.0330	N	0.14661	0.345	0.09310	N	1	B;B;B	0.19445	0.008;0.003;0.036	B;B;B	0.14023	0.005;0.002;0.01	T	0.13361	-1.0512	10	0.30078	T	0.28	-3.2037	13.5783	0.61888	0.068:0.1039:0.6596:0.1685	.	397;558;619	E7EN39;B4E3H8;Q9H8L6	.;.;MMRN2_HUMAN	V	619;397	ENSP00000361097:L619V	ENSP00000361097:L619V	L	-	1	2	MMRN2	88692666	0.004000	0.15560	0.001000	0.08648	0.779000	0.44077	-1.291000	0.02775	-2.472000	0.00529	-0.738000	0.03535	CTG		0.731	MMRN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049179.2	NM_024756		3	12	0	0	0	1	0	3	12					C	88702686	G	C	88702686	3	2	348	1	0	0	0	0	1	0	0	0	9671	962	34	5	1002	5	MMRN2	10	88702686	Missense_Mutation	SNP	G	TCGA-KK-A8IL-01A-11D-A364-08	736484	88702686	46832061	27	17575											
ACCS	84680	broad.mit.edu	37	chr11	44092838	44092838	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttgggcaccagtgagaacaaActctgctttgacctgctgtc	9	11	10	11	0	1	2	0	2	1	1	2	3	1	2	2	1	4	3	2	1	2	2			TCGA-KK-A8IL-01A-11D-A364-08	TCGA-KK-A8IL-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	defe4c4d-743a-4352-8020-f614ba5bfe2d	ecf06be2-7f7e-4833-a200-287d4835fec1	g.chr11:44092838A>G	ENST00000263776.8	+	3	755	c.321A>G	c.(319-321)aaA>aaG	p.K107K	ACCS_ENST00000432284.2_Silent_p.K107K|ACCS_ENST00000533208.1_3'UTR|CTD-2609K8.3_ENST00000531268.1_RNA	NM_001127219.1|NM_032592.3	NP_001120691.1|NP_115981.1	Q96QU6	1A1L1_HUMAN	1-aminocyclopropane-1-carboxylate synthase homolog (Arabidopsis)(non-functional)	107					biosynthetic process (GO:0009058)		catalytic activity (GO:0003824)|protein homodimerization activity (GO:0042803)|pyridoxal phosphate binding (GO:0030170)			breast(4)|endometrium(3)|large_intestine(11)|lung(15)|ovary(1)|skin(1)	35						GTGAGAACAAACTCTGCTTTG	0.582																																					Esophageal Squamous(158;148 1889 8077 23160 41213)	ENST00000263776.8																			0				breast(4)|endometrium(3)|large_intestine(11)|lung(15)|ovary(1)|skin(1)	35						c.(319-321)aaA>aaG		1-aminocyclopropane-1-carboxylate synthase homolog (Arabidopsis)(non-functional)							139	127	131					11																	44092838		2203	4300	6503	SO:0001819	synonymous_variant	84680						1-aminocyclopropane-1-carboxylate synthase activity|protein homodimerization activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups	g.chr11:44092838A>G	AY026508	CCDS7907.1	11p11	2008-03-12	2008-01-28		ENSG00000110455	ENSG00000110455			23989	protein-coding gene	gene with protein product		608405				11470512	Standard	NM_032592		Approved	PHACS, ACS	uc009yks.1	Q96QU6	OTTHUMG00000166427	ENST00000263776.8:c.321A>G	11.37:g.44092838A>G						ACCS_ENST00000533208.1_3'UTR|ACCS_ENST00000432284.2_Silent_p.K107K	p.K107K	NM_001127219.1|NM_032592.3	NP_001120691.1|NP_115981.1	Q96QU6	1A1L1_HUMAN			3	755	+			107					B4E219|Q8WUL4|Q96LX5	Silent	SNP	ENST00000263776.8	37	c.321A>G	CCDS7907.1																																																																																				0.582	ACCS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389721.1	NM_032592		4	81	0	0	0	1	0	4	81					G	44092838	A	G	44092838	2	3	348	1	0	0	0	0	0	0	0	1	133	40	2	4		4	ACCS	11	44092838	Silent	SNP	A	TCGA-KK-A8IL-01A-11D-A364-08		44092838	90913678	28	17576											
ZBTB44	29068	broad.mit.edu	37	chr11	130109742	130109742	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaggagcattagtgctagaCgtgctttgaagtgtaggcaa	11	10	15	5	1	0	2	0	1	0	1	0	4	0	4	0	3	3	5	0	3	5	4	rs199833780		TCGA-KK-A8IL-01A-11D-A364-08	TCGA-KK-A8IL-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	defe4c4d-743a-4352-8020-f614ba5bfe2d	ecf06be2-7f7e-4833-a200-287d4835fec1	g.chr11:130109742C>T	ENST00000357899.4	-	3	1340	c.1068G>A	c.(1066-1068)acG>acA	p.T356T	ZBTB44_ENST00000525842.1_Silent_p.T356T|ZBTB44_ENST00000530205.1_Silent_p.T356T|ZBTB44_ENST00000397753.1_Silent_p.T356T			Q8NCP5	ZBT44_HUMAN	zinc finger and BTB domain containing 44	356					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			autonomic_ganglia(1)|breast(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)	15	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0192)|Lung(977;0.235)		TAGTGCTAGACGTGCTTTGAA	0.438													C|||	1	0.000199681	0	0	5008	,	,		17448	0		0.001	False		,,,				2504	0					ENST00000525842.1																			0				autonomic_ganglia(1)|breast(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)	15						c.(1066-1068)acG>acA		zinc finger and BTB domain containing 44		C		0,3892		0,0,1946	139	133	135		1068	-3.8	0.9	11		135	1,8325		0,1,4162	no	coding-synonymous	ZBTB44	NM_014155.4		0,1,6108	TT,TC,CC		0.012,0.0,0.0082		356/454	130109742	1,12217	1946	4163	6109	SO:0001819	synonymous_variant	29068				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr11:130109742C>T	AK024659	CCDS44776.1, CCDS73414.1, CCDS73415.1	11q24.3	2013-01-08	2006-09-19	2006-09-19		ENSG00000196323		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	25001	protein-coding gene	gene with protein product			"BTB (POZ) domain containing 15"	BTBD15		11042152	Standard	NM_014155		Approved	HSPC063, ZNF851	uc001qgb.4	Q8NCP5		ENST00000357899.4:c.1068G>A	11.37:g.130109742C>T						ZBTB44_ENST00000530205.1_Silent_p.T356T|ZBTB44_ENST00000397753.1_Silent_p.T356T|ZBTB44_ENST00000357899.4_Silent_p.T356T	p.T356T	NM_014155.4	NP_054874.3	Q8NCP5	ZBT44_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.0192)|Lung(977;0.235)	3	1435	-	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)	356					Q6IPT8|Q86VJ7|Q86XX5	Silent	SNP	ENST00000357899.4	37	c.1068G>A		1|1	4.578754578754579E-4|4.578754578754579E-4	0|0	0.0|0.0	0|0	0.0|0.0	0|0	0.0|0.0	1|1	0.0013192612137203166|0.0013192612137203166	C|C	2.061|2.061	-0.415282|-0.415282	0.04766|0.04766	0.0|0.0	1.2E-4|1.2E-4	ENSG00000196323|ENSG00000196323	ENST00000529982|ENST00000527478	.|.	.|.	.|.	5.54|5.54	-3.77|-3.77	0.04346|0.04346	.|.	.|.	.|.	.|.	.|.	T|T	0.50718|0.50718	0.1632|0.1632	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.49031|0.49031	-0.8981|-0.8981	4|4	.|.	.|.	.|.	.|.	7.87|7.87	0.29561|0.29561	0.1551:0.4612:0.3837:0.0|0.1551:0.4612:0.3837:0.0	.|.	.|.	.|.	.|.	H|I	210|353	.|.	.|.	R|V	-|-	2|1	0|0	ZBTB44|ZBTB44	129614952|129614952	1.000000|1.000000	0.71417|0.71417	0.922000|0.922000	0.36590|0.36590	0.081000|0.081000	0.17604|0.17604	1.107000|1.107000	0.31110|0.31110	-0.567000|-0.567000	0.06046|0.06046	-0.310000|-0.310000	0.09108|0.09108	CGT|GTC		0.438	ZBTB44-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000386126.1	NM_014155		3	15	0	0	0	1	0	3	15					T	130109742	C	T	130109742	2	4	348	1	0	0	0	0	0	0	0	1	17542	523	19	1		1	ZBTB44	11	130109742	Silent	SNP	C	TCGA-KK-A8IL-01A-11D-A364-08	86016904	130109742	4896774	29	17577											
KRT78	196374	broad.mit.edu	37	chr12	53242526	53242526	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ctccactccccaaaccgcacCcccagcctaccccctgaccc	8	4	3	26	1	0	1	0	1	0	0	2	1	2	1	10	0	3	1	10	0	2	1			TCGA-KK-A8IL-01A-11D-A364-08	TCGA-KK-A8IL-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	defe4c4d-743a-4352-8020-f614ba5bfe2d	ecf06be2-7f7e-4833-a200-287d4835fec1	g.chr12:53242526C>A	ENST00000304620.4	-	1	252	c.189G>T	c.(187-189)ggG>ggT	p.G63G	KRT78_ENST00000359499.4_5'Flank	NM_173352.2	NP_775487.2	Q8N1N4	K2C78_HUMAN	keratin 78	63	Gly-rich.|Head.					extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	18						CAAACCGCACCCCCAGCCTAC	0.642																																						ENST00000304620.4																			0				endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	18						c.(187-189)ggG>ggT		keratin 78							30	29	29					12																	53242526		2203	4300	6503	SO:0001819	synonymous_variant	196374					keratin filament	protein binding|structural molecule activity	g.chr12:53242526C>A	AK096419	CCDS8840.1, CCDS73473.1	12q13.13	2013-06-25			ENSG00000170423	ENSG00000170423		"-", "Intermediate filaments type II, keratins (basic)"	28926	protein-coding gene	gene with protein product		611159				16831889	Standard	XM_005268695		Approved	K5B	uc001sbc.1	Q8N1N4	OTTHUMG00000169880	ENST00000304620.4:c.189G>T	12.37:g.53242526C>A							p.G63G	NM_173352.2	NP_775487.2	Q8N1N4	K2C78_HUMAN			1	252	-			63			Gly-rich.|Head.		A8K4D6|Q5HYM7|Q7RTT2	Silent	SNP	ENST00000304620.4	37	c.189G>T	CCDS8840.1																																																																																				0.642	KRT78-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406380.1	NM_173352		6	11	1	0	0.0215528	1	0.0223365	6	11					A	53242526	C	A	53242526	2	1	348	1	0	0	0	0	0	0	0	1	8491	610	22	5		5	KRT78	12	53242526	Silent	SNP	C	TCGA-KK-A8IL-01A-11D-A364-08		53242526	80609369	30	17578											
RIMBP2	23504	broad.mit.edu	37	chr12	130897244	130897244	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tctcctcatcatctgcttgtAtctcagagaccatgttacaa	10	14	5	12	0	5	1	3	0	3	1	7	2	5	1	2	0	2	3	2	0	3	3			TCGA-KK-A8IL-01A-11D-A364-08	TCGA-KK-A8IL-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	defe4c4d-743a-4352-8020-f614ba5bfe2d	ecf06be2-7f7e-4833-a200-287d4835fec1	g.chr12:130897244A>G	ENST00000261655.4	-	15	2904	c.2741T>C	c.(2740-2742)aTa>aCa	p.I914T		NM_015347.4	NP_056162.4	O15034	RIMB2_HUMAN	RIMS binding protein 2	914	SH3 2. {ECO:0000255|PROSITE- ProRule:PRU00192}.				negative regulation of phosphatase activity (GO:0010923)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|synapse (GO:0045202)				NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		ATCTGCTTGTATCTCAGAGAC	0.478																																						ENST00000261655.4																			0				NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96						c.(2740-2742)aTa>aCa		RIMS binding protein 2							118	112	114					12																	130897244		2203	4300	6503	SO:0001583	missense	23504					cell junction|synapse		g.chr12:130897244A>G	AB002316	CCDS31925.1	12q24.33	2014-06-13				ENSG00000060709			30339	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 133"	611602				10748113	Standard	NM_015347		Approved	KIAA0318, RBP2, MGC15831, RIM-BP2, PPP1R133	uc001uil.2	O15034		ENST00000261655.4:c.2741T>C	12.37:g.130897244A>G	ENSP00000261655:p.Ile914Thr						p.I914T	NM_015347.4	NP_056162.4	O15034	RIMB2_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)	15	2904	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)	914			SH3 2.		Q96ID2	Missense_Mutation	SNP	ENST00000261655.4	37	c.2741T>C	CCDS31925.1	.	.	.	.	.	.	.	.	.	.	A	16.60	3.168882	0.57584	.	.	ENSG00000060709	ENST00000261655;ENST00000536632	T;T	0.09163	3.01;3.01	5.06	5.06	0.68205	Src homology-3 domain (3);Variant SH3 (1);	0.113461	0.64402	D	0.000014	T	0.20047	0.0482	M	0.69248	2.105	0.80722	D	1	P	0.48998	0.918	P	0.47299	0.543	T	0.01165	-1.1431	10	0.87932	D	0	-24.8959	14.8261	0.70113	1.0:0.0:0.0:0.0	.	914	O15034	RIMB2_HUMAN	T	914;51	ENSP00000261655:I914T;ENSP00000439030:I51T	ENSP00000261655:I914T	I	-	2	0	RIMBP2	129463197	1.000000	0.71417	0.831000	0.32960	0.055000	0.15305	9.249000	0.95470	1.896000	0.54893	0.533000	0.62120	ATA		0.478	RIMBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399520.1	NM_015347		4	45	0	0	0	1	0	4	45					G	130897244	A	G	130897244	3	3	348	1	0	0	0	0	1	0	0	0	13363	449	16	4	437	4	RIMBP2	12	130897244	Missense_Mutation	SNP	A	TCGA-KK-A8IL-01A-11D-A364-08	77654718	130897244	2954651	31	17579											
NALCN	259232	broad.mit.edu	37	chr13	101944385	101944385	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gctgcttctcgatccccacaTttgttgaaactgtactctga	8	14	7	12	1	2	2	0	2	2	0	4	3	3	2	2	0	3	4	2	0	2	4			TCGA-KK-A8IL-01A-11D-A364-08	TCGA-KK-A8IL-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	defe4c4d-743a-4352-8020-f614ba5bfe2d	ecf06be2-7f7e-4833-a200-287d4835fec1	g.chr13:101944385T>A	ENST00000251127.6	-	9	1084	c.1003A>T	c.(1003-1005)Atg>Ttg	p.M335L	NALCN_ENST00000376196.3_Missense_Mutation_p.M335L|NALCN_ENST00000470333.1_5'UTR	NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	335					calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|cell death (GO:0008219)|ion transmembrane transport (GO:0034220)|membrane depolarization during action potential (GO:0086010)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium channel activity (GO:0005272)|voltage-gated calcium channel activity (GO:0005245)			NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					GATCCCCACATTTGTTGAAAC	0.418																																						ENST00000251127.6																			0				NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177						c.(1003-1005)Atg>Ttg		sodium leak channel, non-selective							294	231	252					13																	101944385		2203	4300	6503	SO:0001583	missense	259232					integral to membrane	sodium channel activity|voltage-gated ion channel activity	g.chr13:101944385T>A	AY141972	CCDS9498.1	13q32.3	2012-02-21	2007-04-26	2007-04-26	ENSG00000102452	ENSG00000102452		"Ion channels / Sodium leak channels, non-selective"	19082	protein-coding gene	gene with protein product		611549	"voltage gated channel like 1"	VGCNL1		17448995	Standard	XM_006719943		Approved	bA430M15.1, CanIon	uc001vox.1	Q8IZF0	OTTHUMG00000017295	ENST00000251127.6:c.1003A>T	13.37:g.101944385T>A	ENSP00000251127:p.Met335Leu					NALCN_ENST00000376196.3_Missense_Mutation_p.M335L|NALCN_ENST00000470333.1_5'UTR	p.M335L	NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN			9	1084	-	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		335					Q6P2S6|Q6ZMI7|Q8IZZ1|Q8TAH1	Missense_Mutation	SNP	ENST00000251127.6	37	c.1003A>T	CCDS9498.1	.	.	.	.	.	.	.	.	.	.	T	21.1	4.100425	0.76983	.	.	ENSG00000102452	ENST00000251127;ENST00000376196	D;D	0.98280	-4.51;-4.84	6.16	6.16	0.99307	.	0.000000	0.85682	D	0.000000	D	0.97151	0.9069	M	0.64997	1.995	0.80722	D	1	B;B;B	0.26120	0.1;0.142;0.045	B;B;B	0.27500	0.08;0.043;0.08	D	0.95529	0.8601	10	0.46703	T	0.11	.	16.8061	0.85666	0.0:0.0:0.0:1.0	.	335;335;335	F2Z323;B3KSZ6;Q8IZF0	.;.;NALCN_HUMAN	L	335	ENSP00000251127:M335L;ENSP00000365367:M335L	ENSP00000251127:M335L	M	-	1	0	NALCN	100742386	1.000000	0.71417	0.998000	0.56505	0.995000	0.86356	7.698000	0.84413	2.367000	0.80283	0.528000	0.53228	ATG		0.418	NALCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045663.2	NM_052867		9	34	0	0	0	1	0	9	34					A	101944385	T	A	101944385	3	1	348	1	0	0	0	0	1	0	0	0	10148	1493	52	5	4357	5	NALCN	13	101944385	Missense_Mutation	SNP	T	TCGA-KK-A8IL-01A-11D-A364-08		101944385	13225493	32	17580											
CCNB1IP1	57820	broad.mit.edu	37	chr14	20781932	20781932	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cctcagccttgctgaaattgTattcttgatagagacgttcc	9	14	8	10	1	2	3	1	2	1	1	3	4	3	3	3	0	2	3	3	0	3	7			TCGA-KK-A8IL-01A-11D-A364-08	TCGA-KK-A8IL-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	defe4c4d-743a-4352-8020-f614ba5bfe2d	ecf06be2-7f7e-4833-a200-287d4835fec1	g.chr14:20781932T>C	ENST00000398169.3	-	6	942	c.326A>G	c.(325-327)tAc>tGc	p.Y109C	CCNB1IP1_ENST00000358932.4_Missense_Mutation_p.Y109C|CCNB1IP1_ENST00000437553.2_Missense_Mutation_p.Y109C|CCNB1IP1_ENST00000398163.2_Missense_Mutation_p.Y109C|CCNB1IP1_ENST00000398160.2_Missense_Mutation_p.Y109C|CCNB1IP1_ENST00000353689.4_Missense_Mutation_p.Y109C			Q9NPC3	CIP1_HUMAN	cyclin B1 interacting protein 1, E3 ubiquitin protein ligase	109					blastocyst formation (GO:0001825)|chiasma assembly (GO:0051026)|protein ubiquitination (GO:0016567)|reciprocal meiotic recombination (GO:0007131)|spermatid development (GO:0007286)	synaptonemal complex (GO:0000795)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)		HMGA2/CCNB1IP1(2)	breast(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	9	all_cancers(95;0.00092)	all_lung(585;0.235)	Epithelial(56;8.86e-07)|all cancers(55;4.98e-06)	GBM - Glioblastoma multiforme(265;0.0164)		GCTGAAATTGTATTCTTGATA	0.353			T	HMGA2	leiomyoma																																	ENST00000398169.3				Dom	yes		14	14q11.2	57820	T	"cyclin B1 interacting protein 1, E3 ubiquitin protein ligase"			M	HMGA2		leiomyoma	HMGA2/CCNB1IP1(2)	0				breast(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	9						c.(325-327)tAc>tGc		cyclin B1 interacting protein 1, E3 ubiquitin protein ligase							45	42	43					14																	20781932		2203	4298	6501	SO:0001583	missense	57820					chromosome|nucleus	ligase activity|metal ion binding|protein binding	g.chr14:20781932T>C	AF216381	CCDS9547.1	14q11.2	2014-02-04	2011-01-31	2004-01-14	ENSG00000100814	ENSG00000100814			19437	protein-coding gene	gene with protein product	"human enhancer of invasion 10"	608249	"chromosome 14 open reading frame 18", "cyclin B1 interacting protein 1"	C14orf18		12612082, 21779533	Standard	NM_021178		Approved	HEI10	uc001vwy.4	Q9NPC3	OTTHUMG00000029509	ENST00000398169.3:c.326A>G	14.37:g.20781932T>C	ENSP00000381235:p.Tyr109Cys					CCNB1IP1_ENST00000437553.2_Missense_Mutation_p.Y109C|CCNB1IP1_ENST00000398160.2_Missense_Mutation_p.Y109C|CCNB1IP1_ENST00000398163.2_Missense_Mutation_p.Y109C|CCNB1IP1_ENST00000358932.4_Missense_Mutation_p.Y109C|CCNB1IP1_ENST00000353689.4_Missense_Mutation_p.Y109C	p.Y109C			Q9NPC3	CIP1_HUMAN	Epithelial(56;8.86e-07)|all cancers(55;4.98e-06)	GBM - Glioblastoma multiforme(265;0.0164)	6	942	-	all_cancers(95;0.00092)	all_lung(585;0.235)	109						Missense_Mutation	SNP	ENST00000398169.3	37	c.326A>G	CCDS9547.1	.	.	.	.	.	.	.	.	.	.	T	21.5	4.164054	0.78339	.	.	ENSG00000100814	ENST00000398160;ENST00000398169;ENST00000358932;ENST00000353689;ENST00000437553;ENST00000398163;ENST00000557665	.	.	.	5.37	5.37	0.77165	.	0.000000	0.85682	D	0.000000	T	0.78194	0.4245	M	0.74647	2.275	0.58432	D	0.999997	D	0.89917	1.0	D	0.78314	0.991	T	0.80634	-0.1295	9	0.62326	D	0.03	-11.9413	14.3586	0.66754	0.0:0.0:0.0:1.0	.	109	Q9NPC3	CIP1_HUMAN	C	109	.	ENSP00000337396:Y109C	Y	-	2	0	CCNB1IP1	19851772	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	5.416000	0.66417	2.047000	0.60756	0.459000	0.35465	TAC		0.353	CCNB1IP1-001	KNOWN	non_canonical_other|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073538.3	NM_021178, NM_182849, NM_182851, NM_182852		13	38	0	0	0	1	0	13	38					C	20781932	T	C	20781932	3	2	348	1	0	0	0	0	1	0	0	0	2912	1638	57	4	515	4	CCNB1IP1	14	20781932	Missense_Mutation	SNP	T	TCGA-KK-A8IL-01A-11D-A364-08		20781932	86567608	33	17581											
SMOC1	64093	broad.mit.edu	37	chr14	70490004	70490004	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctggacagcaatagcagcaaCgacattaacaagcgggagat	16	5	11	9	2	0	1	0	0	0	1	0	4	0	2	0	2	6	3	0	2	5	2			TCGA-KK-A8IL-01A-11D-A364-08	TCGA-KK-A8IL-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	defe4c4d-743a-4352-8020-f614ba5bfe2d	ecf06be2-7f7e-4833-a200-287d4835fec1	g.chr14:70490004C>T	ENST00000381280.4	+	11	1384	c.1131C>T	c.(1129-1131)aaC>aaT	p.N377N	SMOC1_ENST00000361956.3_Silent_p.N377N	NM_001034852.2|NM_022137.5	NP_001030024.1|NP_071420.1	Q9H4F8	SMOC1_HUMAN	SPARC related modular calcium binding 1	377	EF-hand 1.				cell differentiation (GO:0030154)|extracellular matrix organization (GO:0030198)|eye development (GO:0001654)|limb development (GO:0060173)|positive regulation of cell-substrate adhesion (GO:0010811)|regulation of osteoblast differentiation (GO:0045667)|signal transduction (GO:0007165)	basement membrane (GO:0005604)	calcium ion binding (GO:0005509)|extracellular matrix binding (GO:0050840)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	21				all cancers(60;0.00417)|BRCA - Breast invasive adenocarcinoma(234;0.0119)|OV - Ovarian serous cystadenocarcinoma(108;0.028)		ATAGCAGCAACGACATTAACA	0.552																																						ENST00000381280.4																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	21						c.(1129-1131)aaC>aaT		SPARC related modular calcium binding 1							116	104	108					14																	70490004		2203	4300	6503	SO:0001819	synonymous_variant	64093				cell differentiation|eye development|limb development|regulation of osteoblast differentiation|signal transduction	basement membrane	calcium ion binding	g.chr14:70490004C>T	AJ249900	CCDS9798.1, CCDS32110.1	14q24.1	2010-08-05			ENSG00000198732	ENSG00000198732			20318	protein-coding gene	gene with protein product		608488				12130637	Standard	NM_001034852		Approved		uc001xlt.2	Q9H4F8		ENST00000381280.4:c.1131C>T	14.37:g.70490004C>T						SMOC1_ENST00000361956.3_Silent_p.N377N	p.N377N	NM_001034852.2|NM_022137.5	NP_001030024.1|NP_071420.1	Q9H4F8	SMOC1_HUMAN		all cancers(60;0.00417)|BRCA - Breast invasive adenocarcinoma(234;0.0119)|OV - Ovarian serous cystadenocarcinoma(108;0.028)	11	1384	+			377			EF-hand 1.		A8K1S3|B2R7P5|Q96F78	Silent	SNP	ENST00000381280.4	37	c.1131C>T	CCDS9798.1																																																																																				0.552	SMOC1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000412467.1			9	46	0	0	0	1	0	9	46					T	70490004	C	T	70490004	2	4	348	1	0	0	0	0	0	0	0	1	14801	535	19	1		1	SMOC1	14	70490004	Silent	SNP	C	TCGA-KK-A8IL-01A-11D-A364-08	49708072	70490004	36859536	34	17582											
SNRPA1	6627	broad.mit.edu	37	chr15	101832175	101832175	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtgcaacttaccagttccaCgagactattattggtgagaa	12	12	9	8	1	0	2	0	1	0	2	1	4	1	2	2	1	3	2	2	1	5	5	rs369821067		TCGA-KK-A8IL-01A-11D-A364-08	TCGA-KK-A8IL-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	defe4c4d-743a-4352-8020-f614ba5bfe2d	ecf06be2-7f7e-4833-a200-287d4835fec1	g.chr15:101832175C>T	ENST00000254193.6	-	3	373	c.301G>A	c.(301-303)Gtg>Atg	p.V101M	SNRPA1_ENST00000560856.1_5'UTR	NM_003090.2	NP_003081.2	P09661	RU2A_HUMAN	small nuclear ribonucleoprotein polypeptide A'	101					gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|small nuclear ribonucleoprotein complex (GO:0030532)|spliceosomal complex (GO:0005681)|U2 snRNP (GO:0005686)	poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)	6	Lung NSC(78;0.00156)|all_lung(78;0.00195)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.00113)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			ACCAGTTCCACGAGACTATTA	0.388																																						ENST00000254193.6																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(3)	6						c.(301-303)Gtg>Atg		small nuclear ribonucleoprotein polypeptide A'		C	MET/VAL	1,4405	2.1+/-5.4	0,1,2202	168	179	175		301	2.1	0.9	15		175	1,8599	1.2+/-3.3	0,1,4299	no	missense	SNRPA1	NM_003090.2	21	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	benign	101/256	101832175	2,13004	2203	4300	6503	SO:0001583	missense	6627					catalytic step 2 spliceosome|nucleoplasm|U2 snRNP	protein binding|RNA binding	g.chr15:101832175C>T	AJ130971	CCDS10391.1	15q26.3	2011-10-11			ENSG00000131876	ENSG00000131876			11152	protein-coding gene	gene with protein product		603521				2928112	Standard	NM_003090		Approved	Lea1	uc002bww.3	P09661	OTTHUMG00000149871	ENST00000254193.6:c.301G>A	15.37:g.101832175C>T	ENSP00000254193:p.Val101Met					SNRPA1_ENST00000560856.1_5'UTR	p.V101M	NM_003090.2	NP_003081.2	P09661	RU2A_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.00113)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)		3	373	-	Lung NSC(78;0.00156)|all_lung(78;0.00195)|Melanoma(26;0.00505)		101					B2R5I6|Q8TBD2	Missense_Mutation	SNP	ENST00000254193.6	37	c.301G>A	CCDS10391.1	.	.	.	.	.	.	.	.	.	.	C	12.43	1.934732	0.34189	2.27E-4	1.16E-4	ENSG00000131876	ENST00000254193	T	0.23754	1.89	5.23	2.09	0.27110	.	0.614285	0.17139	N	0.185525	T	0.16981	0.0408	L	0.36672	1.1	0.27356	N	0.9561	B	0.14805	0.011	B	0.04013	0.001	T	0.14476	-1.0471	10	0.41790	T	0.15	-11.5504	5.1465	0.14987	0.3987:0.4454:0.0:0.1559	.	101	P09661	RU2A_HUMAN	M	101	ENSP00000254193:V101M	ENSP00000254193:V101M	V	-	1	0	SNRPA1	99649698	0.952000	0.32445	0.907000	0.35723	0.963000	0.63663	1.297000	0.33400	0.561000	0.29186	0.655000	0.94253	GTG		0.388	SNRPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313621.2	NM_003090		48	128	0	0	0	1	0	48	128					T	101832175	C	T	101832175	3	4	348	1	0	0	0	0	1	0	0	0	14860	536	19	1	494	1	SNRPA1	15	101832175	Missense_Mutation	SNP	C	TCGA-KK-A8IL-01A-11D-A364-08		101832175	699217	35	17583											
NPIP	9284	broad.mit.edu	37	chr16	15045869	15045869	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaccctcagcggatgataaTctcaagaaactaaggaagaa	17	6	8	10	1	2	3	2	1	1	2	3	5	2	5	2	2	2	0	2	2	6	2			TCGA-KK-A8IL-01A-11D-A364-08	TCGA-KK-A8IL-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	defe4c4d-743a-4352-8020-f614ba5bfe2d	ecf06be2-7f7e-4833-a200-287d4835fec1	g.chr16:15045869T>C	ENST00000328085.6	+	8	1040	c.1040T>C	c.(1039-1041)aTc>aCc	p.I347T	NPIPA1_ENST00000472413.1_3'UTR	NM_006985.2	NP_008916.2	Q9UND3	NPIA1_HUMAN	nuclear pore complex interacting protein family, member A1	347					mRNA transport (GO:0051028)|protein transport (GO:0015031)	nuclear pore (GO:0005643)											CGGATGATAATCTCAAGAAAC	0.413																																						ENST00000328085.6																			0											c.(1039-1041)aTc>aCc		nuclear pore complex interacting protein family, member A1							27	35	32					16																	15045869		1279	2278	3557	SO:0001583	missense	9284							g.chr16:15045869T>C	AC002045	CCDS10557.1	16p13.11	2013-06-11	2013-06-11	2013-06-11	ENSG00000183426	ENSG00000183426			7909	protein-coding gene	gene with protein product		606406	"nuclear pore complex interacting protein"	NPIP		11586358, 18055785	Standard	NM_006985		Approved	morpheus	uc002dcy.4	Q9UND3	OTTHUMG00000090663	ENST00000328085.6:c.1040T>C	16.37:g.15045869T>C	ENSP00000331843:p.Ile347Thr					NPIPA1_ENST00000472413.1_3'UTR	p.I347T	NM_006985.2	NP_008916.2					8	1040	+								O15102	Missense_Mutation	SNP	ENST00000328085.6	37	c.1040T>C	CCDS10557.1	.	.	.	.	.	.	.	.	.	.	.	1.844	-0.466763	0.04476	.	.	ENSG00000183426	ENST00000432470;ENST00000328085	T	0.51071	0.72	.	.	.	.	.	.	.	.	T	0.32882	0.0844	N	0.14661	0.345	0.09310	N	1	P	0.44006	0.824	P	0.46208	0.507	T	0.19679	-1.0298	7	0.72032	D	0.01	.	.	.	.	.	347	Q9UND3	NPIP_HUMAN	T	347	ENSP00000331843:I347T	ENSP00000331843:I347T	I	+	2	0	NPIP	14953370	0.076000	0.21285	0.022000	0.16811	0.022000	0.10575	0.056000	0.14256	0.064000	0.16427	0.063000	0.15292	ATC		0.413	NPIPA1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207326.2	NM_006985		7	66	0	0	0	1	0	7	66					C	15045869	T	C	15045869	3	2	348	1	0	0	0	0	1	0	0	0	10584	1435	50	4	1070	4	NPIP	16	15045869	Missense_Mutation	SNP	T	TCGA-KK-A8IL-01A-11D-A364-08		15045869	75308884	36	17584											
RTN4RL1	146760	broad.mit.edu	37	chr17	1840687	1840687	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtgcaggccgccaaagacGccggccggcaaggcgctgag	8	3	16	14	5	0	2	0	1	0	1	0	2	0	2	4	4	1	3	4	4	2	0	rs545335258		TCGA-KK-A8IL-01A-11D-A364-08	TCGA-KK-A8IL-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	defe4c4d-743a-4352-8020-f614ba5bfe2d	ecf06be2-7f7e-4833-a200-287d4835fec1	g.chr17:1840687G>A	ENST00000331238.6	-	2	908	c.429C>T	c.(427-429)ggC>ggT	p.G143G		NM_178568.2	NP_848663.1			reticulon 4 receptor-like 1											breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|prostate(2)|skin(1)	11						CGCCAAAGACGCCGGCCGGCA	0.637													G|||	1	0.000199681	0	0.0014	5008	,	,		17982	0		0	False		,,,				2504	0				GBM(68;949 1139 14865 32798 38342)	ENST00000331238.5																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|prostate(2)|skin(1)	11						c.(427-429)ggC>ggT		reticulon 4 receptor-like 1							41	47	45					17																	1840687		2169	4266	6435	SO:0001819	synonymous_variant	146760				axon regeneration	anchored to plasma membrane	receptor activity	g.chr17:1840687G>A	AF532859	CCDS45569.1	17p13.3	2008-02-05				ENSG00000185924			21329	protein-coding gene	gene with protein product	"nogo-66 receptor homolog 2"	610461					Standard	NM_178568		Approved	NGRH2, NgR3, DKFZp547J144	uc002ftp.3	Q86UN2		ENST00000331238.6:c.429C>T	17.37:g.1840687G>A							p.G143G	NM_178568.2	NP_848663.1	Q86UN2	R4RL1_HUMAN			2	447	-			143						Silent	SNP	ENST00000331238.6	37	c.429C>T	CCDS45569.1																																																																																				0.637	RTN4RL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450155.2	NM_178568		10	31	0	0	0	1	0	10	31					A	1840687	G	A	1840687	2	1	348	1	0	0	0	0	0	0	0	1	13731	1074	38	1		1	RTN4RL1	17	1840687	Silent	SNP	G	TCGA-KK-A8IL-01A-11D-A364-08		1840687	79354523	37	17585											
ABCA9	10350	broad.mit.edu	37	chr17	66982398	66982398	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgtcaggttgggccacagcGcattctcctgagggcagtac	7	9	13	12	1	2	1	1	1	1	0	3	1	2	1	2	3	2	4	2	3	1	3			TCGA-KK-A8IL-01A-11D-A364-08	TCGA-KK-A8IL-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	defe4c4d-743a-4352-8020-f614ba5bfe2d	ecf06be2-7f7e-4833-a200-287d4835fec1	g.chr17:66982398G>A	ENST00000340001.4	-	32	4326	c.4115C>T	c.(4114-4116)gCg>gTg	p.A1372V	ABCA9_ENST00000453985.2_Missense_Mutation_p.A1334V|ABCA9_ENST00000370732.2_Missense_Mutation_p.A1372V|ABCA9_ENST00000482072.1_5'Flank	NM_080283.3	NP_525022.2	Q8IUA7	ABCA9_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 9	1372	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	91	Breast(10;1.47e-12)					GGGCCACAGCGCATTCTCCTG	0.547																																						ENST00000340001.4																			0				NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	91						c.(4114-4116)gCg>gTg		ATP-binding cassette, sub-family A (ABC1), member 9							128	105	113					17																	66982398		2203	4300	6503	SO:0001583	missense	10350				transport	integral to membrane	ATP binding|ATPase activity	g.chr17:66982398G>A	AF423307	CCDS11681.1	17q24	2012-03-14			ENSG00000154258	ENSG00000154258		"ATP binding cassette transporters / subfamily A"	39	protein-coding gene	gene with protein product		612507					Standard	XM_005256934		Approved	EST640918	uc002jhu.3	Q8IUA7	OTTHUMG00000140371	ENST00000340001.4:c.4115C>T	17.37:g.66982398G>A	ENSP00000342216:p.Ala1372Val					ABCA9_ENST00000370732.2_Missense_Mutation_p.A1372V|ABCA9_ENST00000453985.2_Missense_Mutation_p.A1334V	p.A1372V	NM_080283.3	NP_525022.2	Q8IUA7	ABCA9_HUMAN			32	4326	-	Breast(10;1.47e-12)		1372			ABC transporter 2.		Q6P655|Q8N2S4|Q8WWZ5|Q96MD8	Missense_Mutation	SNP	ENST00000340001.4	37	c.4115C>T	CCDS11681.1	.	.	.	.	.	.	.	.	.	.	G	6.831	0.522583	0.13066	.	.	ENSG00000154258	ENST00000340001;ENST00000453985;ENST00000370732	D;D	0.93763	-3.28;-3.28	4.87	1.18	0.20946	ATPase, AAA+ type, core (1);ABC transporter-like (2);	1.054980	0.07551	N	0.915471	D	0.86322	0.5905	L	0.31120	0.905	0.09310	N	1	B;B	0.14805	0.011;0.003	B;B	0.14023	0.006;0.01	T	0.70436	-0.4872	10	0.20519	T	0.43	.	3.7669	0.08626	0.3409:0.0:0.4915:0.1676	.	1372;1372	Q8IUA7-3;Q8IUA7	.;ABCA9_HUMAN	V	1372;1317;1372	ENSP00000342216:A1372V;ENSP00000359767:A1372V	ENSP00000342216:A1372V	A	-	2	0	ABCA9	64493993	0.007000	0.16637	0.037000	0.18230	0.203000	0.24098	1.114000	0.31196	-0.000000	0.14550	0.655000	0.94253	GCG		0.547	ABCA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277072.2	NM_172386		3	35	0	0	0	1	0	3	35					A	66982398	G	A	66982398	3	1	348	1	0	0	0	0	1	0	0	0	39	1087	38	1	791	1	ABCA9	17	66982398	Missense_Mutation	SNP	G	TCGA-KK-A8IL-01A-11D-A364-08	65141711	66982398	14212812	38	17586											
PIH1D1	55011	broad.mit.edu	37	chr19	49949879	49949879	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cgggatataagcgtctagatGatacagctgctgggggcccc	9	8	14	10	2	1	2	0	1	1	1	1	3	1	3	2	3	4	2	2	3	4	4			TCGA-KK-A8IL-01A-11D-A364-08	TCGA-KK-A8IL-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	defe4c4d-743a-4352-8020-f614ba5bfe2d	ecf06be2-7f7e-4833-a200-287d4835fec1	g.chr19:49949879G>A	ENST00000262265.5	-	8	995	c.760C>T	c.(760-762)Cat>Tat	p.H254Y	PIH1D1_ENST00000602226.1_5'UTR|PIH1D1_ENST00000596049.1_Missense_Mutation_p.H254Y	NM_017916.2	NP_060386.1	Q9NWS0	PIHD1_HUMAN	PIH1 domain containing 1	254					box C/D snoRNP assembly (GO:0000492)|epithelial cell differentiation (GO:0030855)	pre-snoRNP complex (GO:0070761)				NS(1)|breast(1)|kidney(1)|large_intestine(2)|lung(5)|urinary_tract(1)	11		all_lung(116;5.39e-06)|Lung NSC(112;1.97e-05)|all_neural(266;0.0966)|Ovarian(192;0.15)		OV - Ovarian serous cystadenocarcinoma(262;0.00152)|GBM - Glioblastoma multiforme(486;0.0244)		GCGTCTAGATGATACAGCTGC	0.622																																						ENST00000262265.5																			0				NS(1)|breast(1)|kidney(1)|large_intestine(2)|lung(5)|urinary_tract(1)	11						c.(760-762)Cat>Tat		PIH1 domain containing 1							63	71	68					19																	49949879		2203	4300	6503	SO:0001583	missense	55011				box C/D snoRNP assembly	pre-snoRNP complex		g.chr19:49949879G>A	AK000650	CCDS12765.1	19q13.33	2012-07-18	2007-01-31	2007-01-31	ENSG00000104872	ENSG00000104872			26075	protein-coding gene	gene with protein product		611480		NOP17		12477932	Standard	NM_017916		Approved	FLJ20643	uc002pns.2	Q9NWS0		ENST00000262265.5:c.760C>T	19.37:g.49949879G>A	ENSP00000262265:p.His254Tyr					PIH1D1_ENST00000596049.1_Missense_Mutation_p.H254Y|PIH1D1_ENST00000602226.1_5'UTR	p.H254Y	NM_017916.2	NP_060386.1	Q9NWS0	PIHD1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00152)|GBM - Glioblastoma multiforme(486;0.0244)	8	995	-		all_lung(116;5.39e-06)|Lung NSC(112;1.97e-05)|all_neural(266;0.0966)|Ovarian(192;0.15)	254					B4DGN7|B4E2X7|Q9BVL0	Missense_Mutation	SNP	ENST00000262265.5	37	c.760C>T	CCDS12765.1	.	.	.	.	.	.	.	.	.	.	G	1.421	-0.572922	0.03882	.	.	ENSG00000104872	ENST00000262265	T	0.17528	2.27	3.88	1.7	0.24286	.	0.057187	0.64402	D	0.000002	T	0.12860	0.0312	L	0.47716	1.5	0.37402	D	0.912877	B	0.02656	0.0	B	0.04013	0.001	T	0.09662	-1.0664	10	0.36615	T	0.2	-11.653	5.7237	0.18000	0.1103:0.1968:0.6928:0.0	.	254	Q9NWS0	PIHD1_HUMAN	Y	254	ENSP00000262265:H254Y	ENSP00000262265:H254Y	H	-	1	0	PIH1D1	54641691	0.987000	0.35691	0.895000	0.35142	0.540000	0.34992	1.640000	0.37186	0.418000	0.25898	-0.137000	0.14449	CAT		0.622	PIH1D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465389.2	NM_017916		33	75	0	0	0	1	0	33	75					A	49949879	G	A	49949879	3	1	348	1	0	0	0	0	1	0	0	0	11906	1290	45	3	120	3	PIH1D1	19	49949879	Missense_Mutation	SNP	G	TCGA-KK-A8IL-01A-11D-A364-08		49949879	9179104	39	17587											
KIR3DL1	3811	broad.mit.edu	37	chr19	55340907	55340907	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tttctccttcatctctggtgCtccaacaaaaaaagtaagtc	12	13	5	11	0	3	0	1	0	2	0	7	0	4	0	2	1	2	2	2	1	5	3			TCGA-KK-A8IL-01A-11D-A364-08	TCGA-KK-A8IL-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	defe4c4d-743a-4352-8020-f614ba5bfe2d	ecf06be2-7f7e-4833-a200-287d4835fec1	g.chr19:55340907C>T	ENST00000391728.4	+	7	1125	c.1092C>T	c.(1090-1092)tgC>tgT	p.C364C	KIR3DL1_ENST00000402254.2_Intron|KIR3DL1_ENST00000358178.4_Silent_p.C269C|KIR3DL1_ENST00000541392.1_Silent_p.C347C|KIR3DL1_ENST00000538269.1_Silent_p.C364C|KIR3DL1_ENST00000326542.7_Silent_p.C347C	NM_013289.2	NP_037421.2	P43629	KI3L1_HUMAN	killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1	364					immune response (GO:0006955)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	HLA-B specific inhibitory MHC class I receptor activity (GO:0030109)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	11				GBM - Glioblastoma multiforme(193;0.0192)		atctcTGGTGCTCCAACAAAA	0.532																																						ENST00000391728.4																			0				breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	11						c.(1090-1092)tgC>tgT		killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1							175	135	149					19																	55340907		2170	4147	6317	SO:0001819	synonymous_variant	3811							g.chr19:55340907C>T	L41269	CCDS42621.1	19q13.4	2014-05-22			ENSG00000167633	ENSG00000167633		"Killer cell immunoglobulin-like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6338	protein-coding gene	gene with protein product		604946		KIR		7716543, 7749980	Standard	NM_013289		Approved	cl-2, NKB1, cl-11, nkat3, NKB1B, AMB11, CD158e1/2, CD158E1, CD158e2		P43629	OTTHUMG00000065933	ENST00000391728.4:c.1092C>T	19.37:g.55340907C>T						KIR3DL1_ENST00000358178.4_Silent_p.C269C|KIR3DL1_ENST00000541392.1_Silent_p.C347C|KIR3DL1_ENST00000402254.2_Intron|KIR3DL1_ENST00000326542.7_Silent_p.C347C|KIR3DL1_ENST00000538269.1_Silent_p.C364C	p.C364C	NM_013289.2	NP_037421.2				GBM - Glioblastoma multiforme(193;0.0192)	7	1125	+								O43473|Q14946|Q16541	Silent	SNP	ENST00000391728.4	37	c.1092C>T	CCDS42621.1																																																																																				0.532	KIR3DL1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000141238.1	NM_013289		6	47	0	0	0	1	0	6	47					T	55340907	C	T	55340907	2	4	348	1	0	0	0	0	0	0	0	1	8320	805	28	3		3	KIR3DL1	19	55340907	Silent	SNP	C	TCGA-KK-A8IL-01A-11D-A364-08	5391028	55340907	3788076	40	17588											
PLCB4	5332	broad.mit.edu	37	chr20	9365016	9365016	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagacagttcggcgggaagtCttcggtagaaatgtacagac	12	8	13	8	3	1	3	0	0	1	3	3	4	1	4	0	3	1	3	0	3	4	4			TCGA-KK-A8IL-01A-11D-A364-08	TCGA-KK-A8IL-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	defe4c4d-743a-4352-8020-f614ba5bfe2d	ecf06be2-7f7e-4833-a200-287d4835fec1	g.chr20:9365016C>A	ENST00000378493.1	+	11	1037	c.1022C>A	c.(1021-1023)tCt>tAt	p.S341Y	PLCB4_ENST00000378501.2_Missense_Mutation_p.S341Y|PLCB4_ENST00000278655.4_Missense_Mutation_p.S341Y|PLCB4_ENST00000334005.3_Missense_Mutation_p.S341Y|PLCB4_ENST00000414679.2_Missense_Mutation_p.S341Y|PLCB4_ENST00000378473.3_Missense_Mutation_p.S341Y|PLCB4_ENST00000492632.1_3'UTR			Q15147	PLCB4_HUMAN	phospholipase C, beta 4	341	PI-PLC X-box. {ECO:0000255|PROSITE- ProRule:PRU00270}.				inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|dendrite (GO:0030425)|nucleus (GO:0005634)|postsynaptic density (GO:0014069)|smooth endoplasmic reticulum (GO:0005790)	calcium ion binding (GO:0005509)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						GGCGGGAAGTCTTCGGTAGAA	0.443																																						ENST00000378501.2																			0				NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						c.(1021-1023)tCt>tAt		phospholipase C, beta 4							99	92	95					20																	9365016		2203	4300	6503	SO:0001583	missense	5332				intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity	g.chr20:9365016C>A		CCDS13104.1, CCDS13105.1, CCDS54447.1	20p12	2008-03-18			ENSG00000101333	ENSG00000101333	3.1.4.11		9059	protein-coding gene	gene with protein product		600810				8530101	Standard	NM_000933		Approved		uc021wam.1	Q15147	OTTHUMG00000031853	ENST00000378493.1:c.1022C>A	20.37:g.9365016C>A	ENSP00000367754:p.Ser341Tyr					PLCB4_ENST00000378473.3_Missense_Mutation_p.S341Y|PLCB4_ENST00000334005.3_Missense_Mutation_p.S341Y|PLCB4_ENST00000278655.4_Missense_Mutation_p.S341Y|PLCB4_ENST00000414679.2_Missense_Mutation_p.S341Y|PLCB4_ENST00000378493.1_Missense_Mutation_p.S341Y|PLCB4_ENST00000492632.1_3'UTR	p.S341Y	NM_000933.3	NP_000924.3	Q15147	PLCB4_HUMAN			11	1037	+			341			PI-PLC X-box.		B7ZLK6|E2QRH8|Q17R56|Q5JYS8|Q5JYS9|Q5JYT0|Q5JYT3|Q5JYT4|Q9BQW5|Q9BQW6|Q9BQW8|Q9UJQ2	Missense_Mutation	SNP	ENST00000378493.1	37	c.1022C>A	CCDS13105.1	.	.	.	.	.	.	.	.	.	.	C	28.8	4.954380	0.92726	.	.	ENSG00000101333	ENST00000334005;ENST00000378473;ENST00000278655;ENST00000378493;ENST00000378501;ENST00000414679	T;T;T;T;T;T	0.70399	-0.48;-0.48;-0.48;-0.48;-0.48;-0.48	5.82	5.82	0.92795	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);Phospholipase C, phosphatidylinositol-specific , X domain (3);	0.105504	0.64402	D	0.000002	D	0.91516	0.7321	H	0.98701	4.305	0.80722	D	1	D;D;D;D	0.89917	1.0;0.962;0.996;1.0	D;P;D;D	0.91635	0.999;0.788;0.993;0.998	D	0.94349	0.7577	10	0.87932	D	0	.	20.1008	0.97874	0.0:1.0:0.0:0.0	.	341;188;341;341	E2QRH8;Q15147-2;Q15147;Q15147-4	.;.;PLCB4_HUMAN;.	Y	341;341;341;341;341;177	ENSP00000334105:S341Y;ENSP00000367734:S341Y;ENSP00000278655:S341Y;ENSP00000367754:S341Y;ENSP00000367762:S341Y;ENSP00000390616:S177Y	ENSP00000278655:S341Y	S	+	2	0	PLCB4	9313016	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	7.487000	0.81328	2.756000	0.94617	0.563000	0.77884	TCT		0.443	PLCB4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000077948.2			7	52	1	0	0.00307968	1	0.00325077	7	52					A	9365016	C	A	9365016	3	1	348	1	0	0	0	0	1	0	0	0	12030	913	32	5	1064	5	PLCB4	20	9365016	Missense_Mutation	SNP	C	TCGA-KK-A8IL-01A-11D-A364-08		9365016	53660504	41	17589											
KIF16B	55614	broad.mit.edu	37	chr20	16485058	16485058	+	Missense_Mutation	SNP	C	C	T																															cgttttcagtctggctatttCagctcgcagctcacggataa																										TCGA-KK-A8IL-01A-11D-A364-08	TCGA-KK-A8IL-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	defe4c4d-743a-4352-8020-f614ba5bfe2d	ecf06be2-7f7e-4833-a200-287d4835fec1	g.chr20:16485058C>T	ENST00000354981.2	-	10	1292	c.1135G>A	c.(1135-1137)Gaa>Aaa	p.E379K	KIF16B_ENST00000378003.2_5'UTR|KIF16B_ENST00000355755.3_Missense_Mutation_p.E379K|KIF16B_ENST00000408042.1_Missense_Mutation_p.E379K	NM_001199865.1|NM_024704.4	NP_001186794.1|NP_078980.3	Q96L93	KI16B_HUMAN	kinesin family member 16B	379					ATP catabolic process (GO:0006200)|early endosome to late endosome transport (GO:0045022)|endoderm development (GO:0007492)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|formation of primary germ layer (GO:0001704)|Golgi to endosome transport (GO:0006895)|microtubule-based movement (GO:0007018)|receptor catabolic process (GO:0032801)|regulation of receptor recycling (GO:0001919)	early endosome (GO:0005769)|endosome (GO:0005768)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|plus-end-directed microtubule motor activity (GO:0008574)			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2)	74						CTGGCTATTTCAGCTCGCAGC	0.408																																						ENST00000354981.2																			0				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2)	74						c.(1135-1137)Gaa>Aaa		kinesin family member 16B							243	222	229					20																	16485058		2203	4300	6503	SO:0001583	missense	55614				cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|Golgi to endosome transport|microtubule-based movement|receptor catabolic process|regulation of receptor recycling	early endosome membrane|microtubule	ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity	g.chr20:16485058C>T	AK000142	CCDS13122.1, CCDS56178.1	20p11.23	2008-03-03	2008-03-03	2008-03-03	ENSG00000089177	ENSG00000089177		"Kinesins"	15869	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 23"	C20orf23		16084724, 16782399	Standard	NM_024704		Approved	FLJ20135, dJ971B4.1, SNX23	uc010gci.2	Q96L93	OTTHUMG00000031927	ENST00000354981.2:c.1135G>A	20.37:g.16485058C>T	ENSP00000347076:p.Glu379Lys					KIF16B_ENST00000355755.3_Missense_Mutation_p.E379K|KIF16B_ENST00000408042.1_Missense_Mutation_p.E379K|KIF16B_ENST00000378003.2_5'UTR	p.E379K	NM_001199865.1|NM_024704.4	NP_001186794.1|NP_078980.3	Q96L93	KI16B_HUMAN			10	1292	-			379					A6NKJ9|A7E2A8|B1AKG3|B1AKT7|C9JDN5|C9JI52|C9JSM8|C9JWJ7|Q2TBF5|Q5HYC0|Q5HYK1|Q5JWW3|Q5TFK5|Q86VL9|Q86YS5|Q8IYU0|Q9BQJ8|Q9BQM0|Q9BQM1|Q9BQM5|Q9H5U0|Q9HCI2|Q9NXN9	Missense_Mutation	SNP	ENST00000354981.2	37	c.1135G>A	CCDS13122.1	.	.	.	.	.	.	.	.	.	.	C	34	5.378716	0.95945	.	.	ENSG00000089177	ENST00000354981;ENST00000355755;ENST00000377997;ENST00000408042	T;T;T	0.75367	-0.93;-0.93;-0.93	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	D	0.90497	0.7023	M	0.94142	3.5	0.80722	D	1	D;D;D;D	0.76494	0.999;0.999;0.998;0.997	D;D;D;P	0.69479	0.964;0.964;0.95;0.893	D	0.91980	0.5594	10	0.87932	D	0	.	20.5827	0.99408	0.0:1.0:0.0:0.0	.	379;379;379;379	Q96L93-4;Q96L93-2;Q96L93-6;Q96L93	.;.;.;KI16B_HUMAN	K	379	ENSP00000347076:E379K;ENSP00000347995:E379K;ENSP00000384164:E379K	ENSP00000347076:E379K	E	-	1	0	KIF16B	16433058	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.776000	0.85560	2.941000	0.99782	0.655000	0.94253	GAA		0.408	KIF16B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078104.2	NM_017683		56	108	0	0	0	1	0	56	108					T	16485058	C	T	16485058	3	4	348	1	0	0	0	0	1	0	0	0	8278	835	29	3	2886	3	KIF16B	20	16485058	Missense_Mutation	SNP	C	TCGA-KK-A8IL-01A-11D-A364-08	7120042	16485058	46540462	42	17590	90	2									
KIF16B	55614	broad.mit.edu	37	chr20	16485059	16485059	+	Silent	SNP	A	A	G																															gttttcagtctggctatttcAgctcgcagctcacggataag																										TCGA-KK-A8IL-01A-11D-A364-08	TCGA-KK-A8IL-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	defe4c4d-743a-4352-8020-f614ba5bfe2d	ecf06be2-7f7e-4833-a200-287d4835fec1	g.chr20:16485059A>G	ENST00000354981.2	-	10	1291	c.1134T>C	c.(1132-1134)gcT>gcC	p.A378A	KIF16B_ENST00000378003.2_5'UTR|KIF16B_ENST00000355755.3_Silent_p.A378A|KIF16B_ENST00000408042.1_Silent_p.A378A	NM_001199865.1|NM_024704.4	NP_001186794.1|NP_078980.3	Q96L93	KI16B_HUMAN	kinesin family member 16B	378					ATP catabolic process (GO:0006200)|early endosome to late endosome transport (GO:0045022)|endoderm development (GO:0007492)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|formation of primary germ layer (GO:0001704)|Golgi to endosome transport (GO:0006895)|microtubule-based movement (GO:0007018)|receptor catabolic process (GO:0032801)|regulation of receptor recycling (GO:0001919)	early endosome (GO:0005769)|endosome (GO:0005768)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|plus-end-directed microtubule motor activity (GO:0008574)			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2)	74						TGGCTATTTCAGCTCGCAGCT	0.413																																						ENST00000354981.2																			0				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2)	74						c.(1132-1134)gcT>gcC		kinesin family member 16B							245	224	231					20																	16485059		2203	4300	6503	SO:0001819	synonymous_variant	55614				cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|Golgi to endosome transport|microtubule-based movement|receptor catabolic process|regulation of receptor recycling	early endosome membrane|microtubule	ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity	g.chr20:16485059A>G	AK000142	CCDS13122.1, CCDS56178.1	20p11.23	2008-03-03	2008-03-03	2008-03-03	ENSG00000089177	ENSG00000089177		"Kinesins"	15869	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 23"	C20orf23		16084724, 16782399	Standard	NM_024704		Approved	FLJ20135, dJ971B4.1, SNX23	uc010gci.2	Q96L93	OTTHUMG00000031927	ENST00000354981.2:c.1134T>C	20.37:g.16485059A>G						KIF16B_ENST00000355755.3_Silent_p.A378A|KIF16B_ENST00000408042.1_Silent_p.A378A|KIF16B_ENST00000378003.2_5'UTR	p.A378A	NM_001199865.1|NM_024704.4	NP_001186794.1|NP_078980.3	Q96L93	KI16B_HUMAN			10	1291	-			378					A6NKJ9|A7E2A8|B1AKG3|B1AKT7|C9JDN5|C9JI52|C9JSM8|C9JWJ7|Q2TBF5|Q5HYC0|Q5HYK1|Q5JWW3|Q5TFK5|Q86VL9|Q86YS5|Q8IYU0|Q9BQJ8|Q9BQM0|Q9BQM1|Q9BQM5|Q9H5U0|Q9HCI2|Q9NXN9	Silent	SNP	ENST00000354981.2	37	c.1134T>C	CCDS13122.1																																																																																				0.413	KIF16B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078104.2	NM_017683		56	107	0	0	0	1	0	56	107					G	16485059	A	G	16485059	2	3	348	1	0	0	0	0	0	0	0	1	8278	175	7	4		4	KIF16B	20	16485059	Silent	SNP	A	TCGA-KK-A8IL-01A-11D-A364-08	1	16485059	46540461	43	17591	90	2									
DIP2A	23181	broad.mit.edu	37	chr21	47961679	47961679	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tattttctaggccacctgatCtgggaggaccacctccaaga	10	10	9	12	0	2	2	0	1	2	1	3	4	3	4	5	3	0	0	5	3	3	4			TCGA-KK-A8IL-01A-11D-A364-08	TCGA-KK-A8IL-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	defe4c4d-743a-4352-8020-f614ba5bfe2d	ecf06be2-7f7e-4833-a200-287d4835fec1	g.chr21:47961679C>T	ENST00000417564.2	+	18	2068	c.2047C>T	c.(2047-2049)Ctg>Ttg	p.L683L	DIP2A_ENST00000435722.3_Silent_p.L683L|DIP2A_ENST00000457905.3_Silent_p.L683L|DIP2A_ENST00000400274.1_Silent_p.L679L|DIP2A_ENST00000466639.1_Silent_p.L640L|DIP2A_ENST00000318711.7_Silent_p.L684L|DIP2A_ENST00000427143.2_Silent_p.L619L			Q14689	DIP2A_HUMAN	DIP2 disco-interacting protein 2 homolog A (Drosophila)	683					multicellular organismal development (GO:0007275)|negative regulation of gene expression (GO:0010629)|regulation of apoptotic process (GO:0042981)	cell surface (GO:0009986)|nucleus (GO:0005634)	catalytic activity (GO:0003824)			cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(22)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Breast(49;0.0933)			Epithelial(3;3.12e-06)|OV - Ovarian serous cystadenocarcinoma(3;5.68e-06)|all cancers(3;4.08e-05)|Colorectal(79;0.0129)|COAD - Colon adenocarcinoma(84;0.0824)		GCCACCTGATCTGGGAGGACC	0.488																																						ENST00000318711.7																			0				cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(22)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						c.(2050-2052)Ctg>Ttg		DIP2 disco-interacting protein 2 homolog A (Drosophila)							95	93	93					21																	47961679		1909	4126	6035	SO:0001819	synonymous_variant	23181				multicellular organismal development	nucleus	catalytic activity|transcription factor binding	g.chr21:47961679C>T	AF490768	CCDS46655.1, CCDS46656.1, CCDS46657.1, CCDS54490.1, CCDS54491.1	21q22.3	2010-08-20	2006-01-13	2006-01-13	ENSG00000160305	ENSG00000160305			17217	protein-coding gene	gene with protein product		607711	"chromosome 21 open reading frame 106"	C21orf106			Standard	NM_015151		Approved	Dip2, KIAA0184	uc002zjo.2	Q14689	OTTHUMG00000090717	ENST00000417564.2:c.2047C>T	21.37:g.47961679C>T						DIP2A_ENST00000427143.2_Silent_p.L619L|DIP2A_ENST00000457905.3_Silent_p.L683L|DIP2A_ENST00000417564.2_Silent_p.L683L|DIP2A_ENST00000400274.1_Silent_p.L679L|DIP2A_ENST00000466639.1_Silent_p.L640L|DIP2A_ENST00000435722.3_Silent_p.L683L	p.L684L	NM_001146116.1|NM_015151.3	NP_001139588.1|NP_055966.2	Q14689	DIP2A_HUMAN		Epithelial(3;3.12e-06)|OV - Ovarian serous cystadenocarcinoma(3;5.68e-06)|all cancers(3;4.08e-05)|Colorectal(79;0.0129)|COAD - Colon adenocarcinoma(84;0.0824)	18	2233	+	Breast(49;0.0933)		683					A6P4T3|B4E0F0|E7EMA5|Q8IVA3|Q8N4S2|Q8TD89|Q96ML9	Silent	SNP	ENST00000417564.2	37	c.2050C>T	CCDS46655.1																																																																																				0.488	DIP2A-012	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000376736.1	NM_015151		4	34	0	0	0	1	0	4	34					T	47961679	C	T	47961679	2	4	348	1	0	0	0	0	0	0	0	1	4527	912	32	3		3	DIP2A	21	47961679	Silent	SNP	C	TCGA-KK-A8IL-01A-11D-A364-08		47961679	168216	44	17592											
MXRA5	25878	broad.mit.edu	37	chrX	3229355	3229355	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacgacatagcgcttggtgcGtccaccgctgtcatccgact	7	9	11	14	5	1	0	1	0	0	0	3	3	3	0	3	1	2	2	3	1	1	2			TCGA-KK-A8IL-01A-11D-A364-08	TCGA-KK-A8IL-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	defe4c4d-743a-4352-8020-f614ba5bfe2d	ecf06be2-7f7e-4833-a200-287d4835fec1	g.chrX:3229355G>A	ENST00000217939.6	-	7	7043	c.6889C>T	c.(6889-6891)Cgc>Tgc	p.R2297C		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	2297	Ig-like C2-type 7.					extracellular vesicular exosome (GO:0070062)		p.R2297C(2)		NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				CGCTTGGTGCGTCCACCGCTG	0.557																																						ENST00000217939.6																			2	Substitution - Missense(2)	p.R2297C(2)	lung(2)	NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157						c.(6889-6891)Cgc>Tgc		matrix-remodelling associated 5							141	106	118					X																	3229355		2203	4300	6503	SO:0001583	missense	25878					extracellular region		g.chrX:3229355G>A	AF245505	CCDS14124.1	Xp22.33	2013-01-29			ENSG00000101825	ENSG00000101825		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	7539	protein-coding gene	gene with protein product	"adlican"					12101425	Standard	NM_015419		Approved	DKFZp564I1922	uc004crg.4	Q9NR99	OTTHUMG00000021083	ENST00000217939.6:c.6889C>T	X.37:g.3229355G>A	ENSP00000217939:p.Arg2297Cys						p.R2297C	NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN			7	7043	-		all_lung(23;0.00031)|Lung NSC(23;0.000946)	2297			Ig-like C2-type 7.		Q6P1M7|Q9Y3Y8	Missense_Mutation	SNP	ENST00000217939.6	37	c.6889C>T	CCDS14124.1	.	.	.	.	.	.	.	.	.	.	G	10.68	1.419124	0.25552	.	.	ENSG00000101825	ENST00000381114;ENST00000217939	T	0.28666	1.6	4.28	3.33	0.38152	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.208446	0.23748	U	0.044956	T	0.53674	0.1811	M	0.82823	2.61	0.31823	N	0.625789	D	0.89917	1.0	D	0.87578	0.998	T	0.61973	-0.6952	10	0.59425	D	0.04	.	8.4891	0.33089	0.0:0.1633:0.6652:0.1714	.	2297	Q9NR99	MXRA5_HUMAN	C	2297	ENSP00000217939:R2297C	ENSP00000217939:R2297C	R	-	1	0	MXRA5	3239355	1.000000	0.71417	0.012000	0.15200	0.033000	0.12548	2.660000	0.46749	1.760000	0.52011	0.509000	0.49947	CGC		0.557	MXRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055655.2	NM_015419		6	34	0	0	0	1	0	6	34					A	3229355	G	A	3229355	3	1	348	1	0	0	0	0	1	0	0	0	10003	1145	40	1	1601	1	MXRA5	23	3229355	Missense_Mutation	SNP	G	TCGA-KK-A8IL-01A-11D-A364-08		3229355	152041205	45	17593											
MAGEC1	9947	broad.mit.edu	37	chrX	140996360	140996360	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggaacattacctagagtaccGggaggtgcccaactcttctc	10	9	10	12	1	2	1	0	0	2	1	3	3	2	3	3	3	5	1	3	3	5	4	rs148626954		TCGA-KK-A8IL-01A-11D-A364-08	TCGA-KK-A8IL-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	defe4c4d-743a-4352-8020-f614ba5bfe2d	ecf06be2-7f7e-4833-a200-287d4835fec1	g.chrX:140996360G>A	ENST00000285879.4	+	4	3456	c.3170G>A	c.(3169-3171)cGg>cAg	p.R1057Q	MAGEC1_ENST00000406005.2_Missense_Mutation_p.R124Q	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	1057	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.									breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					CTAGAGTACCGGGAGGTGCCC	0.522										HNSCC(15;0.026)																												ENST00000285879.4																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127						c.(3169-3171)cGg>cAg		melanoma antigen family C, 1		G	GLN/ARG	1,3834		0,1,1631,571	106	103	104		3170	-1.7	0	X	dbSNP_134	104	2,6726		0,2,2426,1872	yes	missense	MAGEC1	NM_005462.4	43	0,3,4057,2443	AA,AG,GG,G		0.0297,0.0261,0.0284	possibly-damaging	1057/1143	140996360	3,10560	2203	4300	6503	SO:0001583	missense	9947						protein binding	g.chrX:140996360G>A	AF064589	CCDS35417.1	Xq26	2009-03-18			ENSG00000155495	ENSG00000155495			6812	protein-coding gene	gene with protein product	"cancer/testis antigen family 7, member 1"	300223				9485030, 9618514	Standard	NM_005462		Approved	MAGE-C1, CT7, MGC39366, CT7.1	uc004fbt.3	O60732	OTTHUMG00000022569	ENST00000285879.4:c.3170G>A	X.37:g.140996360G>A	ENSP00000285879:p.Arg1057Gln	HNSCC(15;0.026)				MAGEC1_ENST00000406005.2_Missense_Mutation_p.R124Q	p.R1057Q	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN			4	3456	+	Acute lymphoblastic leukemia(192;6.56e-05)		1057			MAGE.		A0PK03|O75451|Q8TCV4	Missense_Mutation	SNP	ENST00000285879.4	37	c.3170G>A	CCDS35417.1	.	.	.	.	.	.	.	.	.	.	g	5.706	0.314721	0.10789	2.61E-4	2.97E-4	ENSG00000155495	ENST00000285879;ENST00000406005	T;T	0.05786	3.39;3.39	0.837	-1.67	0.08238	.	.	.	.	.	T	0.04815	0.0130	L	0.52759	1.655	0.09310	N	1	B	0.33238	0.403	B	0.16722	0.016	T	0.28681	-1.0036	8	0.52906	T	0.07	.	.	.	.	.	1057	O60732	MAGC1_HUMAN	Q	1057;124	ENSP00000285879:R1057Q;ENSP00000385500:R124Q	ENSP00000285879:R1057Q	R	+	2	0	MAGEC1	140824026	0.000000	0.05858	0.000000	0.03702	0.181000	0.23173	-2.089000	0.01357	-0.750000	0.04740	-0.787000	0.03339	CGG		0.522	MAGEC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058604.1	NM_005462		5	55	0	0	0	1	0	5	55					A	140996360	G	A	140996360	3	1	348	1	0	0	0	0	1	0	0	0	9180	1116	39	2	3176	2	MAGEC1	23	140996360	Missense_Mutation	SNP	G	TCGA-KK-A8IL-01A-11D-A364-08	137767005	140996360	14274200	46	17594											
ASTN1	460	broad.mit.edu	37	chr1	176927523	176927523	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcacagtcatgtccgtcttgCactttgctgatggattgatg	7	15	10	9	1	3	2	2	2	1	0	4	3	4	3	1	1	2	2	1	1	0	3			TCGA-KK-A8IM-01A-11D-A364-08	TCGA-KK-A8IM-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8a17b3d-a5f6-48e8-b161-b9b6a528c3e6	ec655621-f470-4bca-ad72-e570cd3c3a42	g.chr1:176927523C>A	ENST00000367654.3	-	10	1929	c.1718G>T	c.(1717-1719)tGc>tTc	p.C573F	ASTN1_ENST00000281881.3_5'UTR|ASTN1_ENST00000367657.3_Missense_Mutation_p.C565F|ASTN1_ENST00000361833.2_Missense_Mutation_p.C565F|ASTN1_ENST00000424564.2_Missense_Mutation_p.C565F	NM_004319.1	NP_004310.1	O14525	ASTN1_HUMAN	astrotactin 1	573					locomotory behavior (GO:0007626)|neuron cell-cell adhesion (GO:0007158)|neuron migration (GO:0001764)	endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						GTCCGTCTTGCACTTTGCTGA	0.532																																						ENST00000367654.2																			0				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						c.(1717-1719)tGc>tTc		astrotactin 1							125	92	103					1																	176927523		2203	4300	6503	SO:0001583	missense	460				cell migration|neuron cell-cell adhesion	integral to membrane		g.chr1:176927523C>A	AB006627	CCDS1319.1, CCDS44280.1, CCDS65732.1	1q25.2	2008-02-05	2006-08-24	2006-08-24	ENSG00000152092	ENSG00000152092			773	protein-coding gene	gene with protein product		600904	"astrotactin"	ASTN		9070947	Standard	NM_001286164		Approved		uc001glc.3	O14525	OTTHUMG00000035041	ENST00000367654.3:c.1718G>T	1.37:g.176927523C>A	ENSP00000356626:p.Cys573Phe					ASTN1_ENST00000281881.3_5'UTR|ASTN1_ENST00000361833.2_Missense_Mutation_p.C565F|ASTN1_ENST00000367657.3_Missense_Mutation_p.C565F|ASTN1_ENST00000424564.2_Missense_Mutation_p.C565F	p.C573F			O14525	ASTN1_HUMAN			10	1731	-			573					A5PL12|B4DHI9|E9PFR8|O60799|Q5W0V7|Q5W0V8	Missense_Mutation	SNP	ENST00000367654.3	37	c.1718G>T		.	.	.	.	.	.	.	.	.	.	C	26.5	4.741499	0.89573	.	.	ENSG00000152092	ENST00000367657;ENST00000361833;ENST00000367654;ENST00000424564;ENST00000541808	T;T;T;T	0.32753	1.44;1.84;1.84;1.45	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	T	0.47857	0.1468	L	0.32530	0.975	0.80722	D	1	D;D;D	0.76494	0.999;0.997;0.997	D;D;D	0.83275	0.996;0.994;0.994	T	0.47824	-0.9087	10	0.87932	D	0	-20.2026	18.9852	0.92766	0.0:1.0:0.0:0.0	.	573;565;565	O14525;O14525-2;B1AJS1	ASTN1_HUMAN;.;.	F	565;565;573;565;565	ENSP00000356629:C565F;ENSP00000354536:C565F;ENSP00000356626:C573F;ENSP00000395041:C565F	ENSP00000354536:C565F	C	-	2	0	ASTN1	175194146	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.711000	0.84669	2.572000	0.86782	0.655000	0.94253	TGC		0.532	ASTN1-201	KNOWN	basic	protein_coding	protein_coding		NM_004319		6	28	1	0	0.00198382	1	0.00202603	6	28					A	176927523	C	A	176927523	3	1	349	1	0	0	0	0	1	0	0	0	1064	710	25	5	2250	5	ASTN1	1	176927523	Missense_Mutation	SNP	C	TCGA-KK-A8IM-01A-11D-A364-08		176927523	72323098	1	17595											
DDX59	83479	broad.mit.edu	37	chr1	200613480	200613480	+	Frame_Shift_Del	DEL	C	C	-																															ctgtttatctttctgttgttCctttctcttctggtcatgaa																										TCGA-KK-A8IM-01A-11D-A364-08	TCGA-KK-A8IM-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8a17b3d-a5f6-48e8-b161-b9b6a528c3e6	ec655621-f470-4bca-ad72-e570cd3c3a42	g.chr1:200613480delC	ENST00000331314.6	-	8	1975	c.1762delG	c.(1762-1764)gaafs	p.E588fs	DDX59_ENST00000367348.3_Intron|DDX59_ENST00000447706.2_Intron	NM_001031725.4	NP_001026895.2	Q5T1V6	DDX59_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 59	588						cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|liver(1)|lung(9)|ovary(3)	21						TTCTGTTGTTCCTTTCTCTTC	0.368																																						ENST00000331314.6																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|liver(1)|lung(9)|ovary(3)	21						c.(1762-1764)aafs		DEAD (Asp-Glu-Ala-Asp) box polypeptide 59							213	201	205					1																	200613480		2203	4300	6503	SO:0001589	frameshift_variant	83479					intracellular	ATP binding|ATP-dependent helicase activity|metal ion binding|RNA binding	g.chr1:200613480delC	BC041801	CCDS30964.1	1q32.1	2010-07-14			ENSG00000118197	ENSG00000118197		"Zinc fingers, HIT-type", "DEAD-boxes"	25360	protein-coding gene	gene with protein product		615464					Standard	NM_001031725		Approved	DKFZP564B1023, ZNHIT5	uc009wzk.3	Q5T1V6	OTTHUMG00000035725	ENST00000331314.6:c.1762delG	1.37:g.200613480delC	ENSP00000330460:p.Glu588fs					DDX59_ENST00000447706.2_Intron|DDX59_ENST00000367348.3_Intron	p.E588fs	NM_001031725.4	NP_001026895.2	Q5T1V6	DDX59_HUMAN			8	1975	-			588					Q6PJL2|Q8IVW3|Q9H0W3	Frame_Shift_Del	DEL	ENST00000331314.6	37	c.1762delG	CCDS30964.1																																																																																				0.368	DDX59-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086883.2	NM_001031725.4		13	81						13	81	---	---	---	---	-	200613480	C	-	200613480	7	5	349	1	0	1	0	1	0	0	0	0	4376	864	30	0	101	0	DDX59	1	200613480	Frame_Shift_Del	DEL	C	TCGA-KK-A8IM-01A-11D-A364-08	23685957	200613480	48637141	2	17596											
C2orf16	84226	broad.mit.edu	37	chr2	27799861	27799861	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gatgatcccacagccaaagtAtcaaatccctaaatctgcaa	16	8	5	12	0	2	1	1	1	1	0	4	2	4	1	3	0	2	2	3	0	6	2			TCGA-KK-A8IM-01A-11D-A364-08	TCGA-KK-A8IM-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8a17b3d-a5f6-48e8-b161-b9b6a528c3e6	ec655621-f470-4bca-ad72-e570cd3c3a42	g.chr2:27799861A>T	ENST00000408964.2	+	1	473	c.422A>T	c.(421-423)tAt>tTt	p.Y141F		NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN	chromosome 2 open reading frame 16	141						extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					CAGCCAAAGTATCAAATCCCT	0.378																																						ENST00000408964.2																			0				breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47						c.(421-423)tAt>tTt		chromosome 2 open reading frame 16							74	70	71					2																	27799861		1859	4104	5963	SO:0001583	missense	84226							g.chr2:27799861A>T	AL136898	CCDS42666.1	2p23.3	2013-09-20			ENSG00000221843	ENSG00000221843			25275	protein-coding gene	gene with protein product	"P-S-E-R-S-H-H-S repeats containing"						Standard	NM_032266		Approved	DKFZp434G118	uc002rkz.4	Q68DN1	OTTHUMG00000159099	ENST00000408964.2:c.422A>T	2.37:g.27799861A>T	ENSP00000386190:p.Tyr141Phe						p.Y141F	NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN			1	473	+	Acute lymphoblastic leukemia(172;0.155)		141					B9EIQ4|Q53S01|Q8ND64|Q9H088	Missense_Mutation	SNP	ENST00000408964.2	37	c.422A>T	CCDS42666.1	.	.	.	.	.	.	.	.	.	.	A	15.11	2.736895	0.49045	.	.	ENSG00000221843	ENST00000408964	T	0.05382	3.45	4.35	-1.91	0.07641	.	.	.	.	.	T	0.02649	0.0080	N	0.14661	0.345	0.09310	N	1	B	0.17268	0.021	B	0.08055	0.003	T	0.47302	-0.9128	9	0.16420	T	0.52	.	1.0195	0.01515	0.4287:0.1617:0.0958:0.3139	.	141	Q68DN1	CB016_HUMAN	F	141	ENSP00000386190:Y141F	ENSP00000386190:Y141F	Y	+	2	0	C2orf16	27653365	0.000000	0.05858	0.000000	0.03702	0.025000	0.11179	0.624000	0.24462	-0.401000	0.07644	0.533000	0.62120	TAT		0.378	C2orf16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353292.1	NM_032266		13	62	0	0	0	1	0	13	62					T	27799861	A	T	27799861	3	4	349	1	0	0	0	0	1	0	0	0	2157	449	16	5	424	5	C2orf16	2	27799861	Missense_Mutation	SNP	A	TCGA-KK-A8IM-01A-11D-A364-08		27799861	215399512	3	17597											
C2orf73	129852	broad.mit.edu	37	chr2	54570968	54570968	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	catcgtgtccactggttttgCcagtcaaacacagcaagatg	11	10	9	11	1	1	1	1	0	0	1	3	1	2	1	2	1	3	2	2	1	2	2			TCGA-KK-A8IM-01A-11D-A364-08	TCGA-KK-A8IM-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8a17b3d-a5f6-48e8-b161-b9b6a528c3e6	ec655621-f470-4bca-ad72-e570cd3c3a42	g.chr2:54570968C>T	ENST00000398634.2	+	3	388	c.346C>T	c.(346-348)Cca>Tca	p.P116S	C2orf73_ENST00000405749.1_Missense_Mutation_p.P58S|C2orf73_ENST00000491538.1_Intron	NM_001100396.1	NP_001093866.1	Q8N5S3	CB073_HUMAN	chromosome 2 open reading frame 73	116										breast(2)	2						ACTGGTTTTGCCAGTCAAACA	0.428																																						ENST00000398634.2																			0				breast(2)	2						c.(346-348)Cca>Tca		chromosome 2 open reading frame 73							64	66	66					2																	54570968		1876	4091	5967	SO:0001583	missense	129852							g.chr2:54570968C>T	BC031669, AK097617	CCDS46285.1	2p16.2	2008-07-07			ENSG00000177994	ENSG00000177994			26861	protein-coding gene	gene with protein product						14702039	Standard	NM_001100396		Approved	FLJ40298	uc002rxt.1	Q8N5S3	OTTHUMG00000151826	ENST00000398634.2:c.346C>T	2.37:g.54570968C>T	ENSP00000381631:p.Pro116Ser					C2orf73_ENST00000491538.1_Intron|C2orf73_ENST00000405749.1_Missense_Mutation_p.P58S	p.P116S	NM_001100396.1	NP_001093866.1	Q8N5S3	CB073_HUMAN			3	388	+			116					A0AV79|A0AV81|Q8N7V4	Missense_Mutation	SNP	ENST00000398634.2	37	c.346C>T	CCDS46285.1	.	.	.	.	.	.	.	.	.	.	C	16.50	3.141252	0.57044	.	.	ENSG00000177994	ENST00000486488;ENST00000405749;ENST00000398634;ENST00000447328	T;T;T;T	0.31247	1.5;1.5;1.5;1.5	5.46	5.46	0.80206	.	0.092052	0.47455	D	0.000240	T	0.50599	0.1625	M	0.65975	2.015	0.34955	D	0.751586	D;D	0.89917	1.0;1.0	D;D	0.75020	0.985;0.985	T	0.57802	-0.7748	10	0.35671	T	0.21	-11.4576	12.3628	0.55213	0.0:0.8309:0.1691:0.0	.	58;116	B7ZM12;Q8N5S3	.;CB073_HUMAN	S	122;58;116;58	ENSP00000417971:P122S;ENSP00000385348:P58S;ENSP00000381631:P116S;ENSP00000389570:P58S	ENSP00000381631:P116S	P	+	1	0	C2orf73	54424472	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	1.687000	0.37680	2.838000	0.97847	0.591000	0.81541	CCA		0.428	C2orf73-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324075.2	NM_001100396		3	50	0	0	0	1	0	3	50					T	54570968	C	T	54570968	3	4	349	1	0	0	0	0	1	0	0	0	2192	739	26	3	356	3	C2orf73	2	54570968	Missense_Mutation	SNP	C	TCGA-KK-A8IM-01A-11D-A364-08	26771107	54570968	188628405	4	17598											
HNRNPA3	220988	broad.mit.edu	37	chr2	178080605	178080605	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgggcgtgtagtggaaccaaAgagagctgtttctagagagg	11	9	16	5	1	1	2	0	0	1	2	1	5	1	3	1	3	2	3	1	3	4	3			TCGA-KK-A8IM-01A-11D-A364-08	TCGA-KK-A8IM-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8a17b3d-a5f6-48e8-b161-b9b6a528c3e6	ec655621-f470-4bca-ad72-e570cd3c3a42	g.chr2:178080605A>C	ENST00000392524.2	+	3	560	c.323A>C	c.(322-324)aAg>aCg	p.K108T	HNRNPA3_ENST00000411529.2_Missense_Mutation_p.K86T|HNRNPA3_ENST00000435711.1_Missense_Mutation_p.K108T			P51991	ROA3_HUMAN	heterogeneous nuclear ribonucleoprotein A3	108	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|urinary_tract(1)	16						GTGGAACCAAAGAGAGCTGTT	0.373																																						ENST00000411529.2																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|urinary_tract(1)	16						c.(256-258)aAg>aCg		heterogeneous nuclear ribonucleoprotein A3							88	91	90					2																	178080605		2202	4300	6502	SO:0001583	missense	220988					catalytic step 2 spliceosome|nucleolus|nucleoplasm	nucleotide binding|protein binding|RNA binding	g.chr2:178080605A>C	AF517524	CCDS2273.1	2q31.2	2013-02-12		2008-04-18	ENSG00000170144	ENSG00000170144		"RNA binding motif (RRM) containing"	24941	protein-coding gene	gene with protein product		605372		HNRPA3		11886857, 15776420	Standard	XM_005246380		Approved		uc002ulc.1	P51991	OTTHUMG00000132529	ENST00000392524.2:c.323A>C	2.37:g.178080605A>C	ENSP00000376309:p.Lys108Thr					HNRNPA3_ENST00000435711.1_Missense_Mutation_p.K108T|HNRNPA3_ENST00000392524.2_Missense_Mutation_p.K108T	p.K86T	NM_194247.2	NP_919223.1	P51991	ROA3_HUMAN			3	308	+			108			RRM 1.		D3DPF4|Q53RW7|Q6URK5	Missense_Mutation	SNP	ENST00000392524.2	37	c.257A>C	CCDS2273.1	.	.	.	.	.	.	.	.	.	.	A	19.74	3.883791	0.72410	.	.	ENSG00000170144	ENST00000392524;ENST00000411529;ENST00000416446;ENST00000420139;ENST00000435711	D;D;D	0.88431	-2.38;-2.38;-2.38	4.2	4.2	0.49525	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (2);	0.000000	0.49305	D	0.000158	D	0.95338	0.8487	M	0.92169	3.28	0.80722	D	1	D;D	0.76494	0.999;0.998	D;D	0.77004	0.989;0.976	D	0.96279	0.9205	10	0.87932	D	0	.	13.6054	0.62044	1.0:0.0:0.0:0.0	.	86;108	B4DDB6;P51991	.;ROA3_HUMAN	T	108;86;86;86;108	ENSP00000376309:K108T;ENSP00000408487:K86T;ENSP00000416340:K108T	ENSP00000376309:K108T	K	+	2	0	HNRNPA3	177788851	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.199000	0.95003	1.689000	0.51079	0.383000	0.25322	AAG		0.373	HNRNPA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255729.3	NM_194247		9	71	0	0	0	1	0	9	71					C	178080605	A	C	178080605	3	2	349	1	0	0	0	0	1	0	0	0	7260	72	3	5	333	5	HNRNPA3	2	178080605	Missense_Mutation	SNP	A	TCGA-KK-A8IM-01A-11D-A364-08	123509637	178080605	65118768	5	17599											
ADIPOQ	9370	broad.mit.edu	37	chr3	186572353	186572353	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ataatgtggaccaggcctccGgctctgtgctcctgcatctg	6	11	11	13	1	2	0	0	0	2	0	4	1	4	1	4	3	2	3	4	3	1	1	rs144526209		TCGA-KK-A8IM-01A-11D-A364-08	TCGA-KK-A8IM-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8a17b3d-a5f6-48e8-b161-b9b6a528c3e6	ec655621-f470-4bca-ad72-e570cd3c3a42	g.chr3:186572353G>A	ENST00000412955.2	+	3	736	c.595G>A	c.(595-597)Ggc>Agc	p.G199S	ADIPOQ_ENST00000444204.2_Missense_Mutation_p.G199S|ADIPOQ-AS1_ENST00000422718.1_RNA|ADIPOQ_ENST00000320741.2_Missense_Mutation_p.G199S			Q15848	ADIPO_HUMAN	adiponectin, C1Q and collagen domain containing	199	C1q. {ECO:0000255|PROSITE- ProRule:PRU00368}.				adiponectin-activated signaling pathway (GO:0033211)|brown fat cell differentiation (GO:0050873)|cellular response to cAMP (GO:0071320)|cellular response to drug (GO:0035690)|cellular response to epinephrine stimulus (GO:0071872)|cellular response to insulin stimulus (GO:0032869)|circadian rhythm (GO:0007623)|detection of oxidative stress (GO:0070994)|fatty acid beta-oxidation (GO:0006635)|fatty acid oxidation (GO:0019395)|generation of precursor metabolites and energy (GO:0006091)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|low-density lipoprotein particle clearance (GO:0034383)|membrane depolarization (GO:0051899)|membrane hyperpolarization (GO:0060081)|negative regulation of blood pressure (GO:0045776)|negative regulation of cell migration (GO:0030336)|negative regulation of DNA biosynthetic process (GO:2000279)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of gluconeogenesis (GO:0045721)|negative regulation of granulocyte differentiation (GO:0030853)|negative regulation of heterotypic cell-cell adhesion (GO:0034115)|negative regulation of hormone secretion (GO:0046888)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of inflammatory response (GO:0050728)|negative regulation of intracellular protein transport (GO:0090317)|negative regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045715)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|negative regulation of macrophage differentiation (GO:0045650)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of metanephric mesenchymal cell migration (GO:2000590)|negative regulation of phagocytosis (GO:0050765)|negative regulation of platelet-derived growth factor receptor signaling pathway (GO:0010642)|negative regulation of platelet-derived growth factor receptor-alpha signaling pathway (GO:2000584)|negative regulation of protein autophosphorylation (GO:0031953)|negative regulation of receptor binding (GO:1900121)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of smooth muscle cell proliferation (GO:0048662)|negative regulation of synaptic transmission (GO:0050805)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of tumor necrosis factor production (GO:0032720)|negative regulation of tumor necrosis factor-mediated signaling pathway (GO:0010804)|positive regulation of blood pressure (GO:0045777)|positive regulation of cAMP-dependent protein kinase activity (GO:2000481)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of fatty acid metabolic process (GO:0045923)|positive regulation of glucose import (GO:0046326)|positive regulation of glycogen (starch) synthase activity (GO:2000467)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of metanephric glomerular visceral epithelial cell development (GO:2000478)|positive regulation of monocyte chemotactic protein-1 production (GO:0071639)|positive regulation of myeloid cell apoptotic process (GO:0033034)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein kinase A signaling (GO:0010739)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of renal albumin absorption (GO:2000534)|positive regulation of signal transduction (GO:0009967)|protein heterotrimerization (GO:0070208)|protein homooligomerization (GO:0051260)|protein localization to plasma membrane (GO:0072659)|regulation of glucose metabolic process (GO:0010906)|response to activity (GO:0014823)|response to ethanol (GO:0045471)|response to glucocorticoid (GO:0051384)|response to glucose (GO:0009749)|response to hypoxia (GO:0001666)|response to linoleic acid (GO:0070543)|response to nutrient (GO:0007584)|response to sucrose (GO:0009744)|response to tumor necrosis factor (GO:0034612)	cell surface (GO:0009986)|collagen trimer (GO:0005581)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	cytokine activity (GO:0005125)|hormone activity (GO:0005179)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|sialic acid binding (GO:0033691)			breast(1)|endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|skin(2)	16	all_cancers(143;1.2e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.47e-19)	GBM - Glioblastoma multiforme(93;0.0776)		CCAGGCCTCCGGCTCTGTGCT	0.502																																						ENST00000412955.2																			0				breast(1)|endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|skin(2)	16						c.(595-597)Ggc>Agc		adiponectin, C1Q and collagen domain containing		G	SER/GLY,SER/GLY	1,4405	2.1+/-5.4	0,1,2202	80	79	80		595,595	4.3	1	3	dbSNP_134	80	2,8598	2.2+/-6.3	0,2,4298	no	missense,missense	ADIPOQ	NM_001177800.1,NM_004797.3	56,56	0,3,6500	AA,AG,GG		0.0233,0.0227,0.0231	probably-damaging,probably-damaging	199/245,199/245	186572353	3,13003	2203	4300	6503	SO:0001583	missense	9370				brown fat cell differentiation|cellular response to drug|cellular response to insulin stimulus|detection of oxidative stress|fatty acid beta-oxidation|generation of precursor metabolites and energy|glucose homeostasis|glucose metabolic process|low-density lipoprotein particle clearance|negative regulation of blood pressure|negative regulation of DNA biosynthetic process|negative regulation of ERK1 and ERK2 cascade|negative regulation of eukaryotic cell surface binding|negative regulation of fat cell differentiation|negative regulation of gluconeogenesis|negative regulation of granulocyte differentiation|negative regulation of heterotypic cell-cell adhesion|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of inflammatory response|negative regulation of intracellular protein transport|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|negative regulation of macrophage differentiation|negative regulation of MAP kinase activity|negative regulation of phagocytosis|negative regulation of platelet-derived growth factor receptor signaling pathway|negative regulation of protein autophosphorylation|negative regulation of smooth muscle cell migration|negative regulation of smooth muscle cell proliferation|negative regulation of synaptic transmission|negative regulation of transcription, DNA-dependent|negative regulation of tumor necrosis factor production|negative regulation of tumor necrosis factor-mediated signaling pathway|positive regulation of cAMP-dependent protein kinase activity|positive regulation of cholesterol efflux|positive regulation of fatty acid metabolic process|positive regulation of glucose import|positive regulation of glycogen (starch) synthase activity|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-8 production|positive regulation of metanephric glomerular visceral epithelial cell development|positive regulation of monocyte chemotactic protein-1 production|positive regulation of myeloid cell apoptosis|positive regulation of protein kinase A signaling cascade|positive regulation of renal albumin absorption|protein homooligomerization|protein localization in plasma membrane|response to glucose stimulus|response to tumor necrosis factor	collagen|endoplasmic reticulum|extracellular space	cytokine activity|eukaryotic cell surface binding|hormone activity|protein homodimerization activity	g.chr3:186572353G>A	D45371	CCDS3284.1	3q27	2013-02-26	2005-01-24	2005-01-27	ENSG00000181092	ENSG00000181092		"Endogenous ligands"	13633	protein-coding gene	gene with protein product	"adipose most abundant gene transcript 1", "adiponectin precursor"	605441	"adipocyte, C1Q and collagen domain containing"	ACDC		7592907, 8631877	Standard	NM_001177800		Approved	ACRP30, AdipoQ, apM1, GBP28, adiponectin	uc003fra.3	Q15848	OTTHUMG00000156521	ENST00000412955.2:c.595G>A	3.37:g.186572353G>A	ENSP00000405611:p.Gly199Ser					ADIPOQ_ENST00000444204.2_Missense_Mutation_p.G199S|ADIPOQ_ENST00000320741.2_Missense_Mutation_p.G199S|ADIPOQ-AS1_ENST00000422718.1_RNA	p.G199S			Q15848	ADIPO_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1.47e-19)	GBM - Glioblastoma multiforme(93;0.0776)	3	736	+	all_cancers(143;1.2e-12)|Ovarian(172;0.0339)		199			C1q.		Q58EX9	Missense_Mutation	SNP	ENST00000412955.2	37	c.595G>A	CCDS3284.1	.	.	.	.	.	.	.	.	.	.	G	18.67	3.673347	0.67928	2.27E-4	2.33E-4	ENSG00000181092	ENST00000412955;ENST00000320741;ENST00000444204	T;T;T	0.77229	-1.08;-1.08;-1.08	5.27	4.34	0.51931	Tumour necrosis factor-like (2);Complement C1q protein (4);	0.064020	0.64402	D	0.000009	D	0.89441	0.6716	M	0.89840	3.065	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.90917	0.4780	10	0.62326	D	0.03	.	14.4374	0.67290	0.0:0.1485:0.8515:0.0	.	199	Q15848	ADIPO_HUMAN	S	199	ENSP00000405611:G199S;ENSP00000320709:G199S;ENSP00000389814:G199S	ENSP00000320709:G199S	G	+	1	0	ADIPOQ	188055047	1.000000	0.71417	0.990000	0.47175	0.367000	0.29736	5.498000	0.66931	2.628000	0.89032	0.655000	0.94253	GGC		0.502	ADIPOQ-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344490.2	NM_004797		18	30	0	0	0	1	0	18	30					A	186572353	G	A	186572353	3	1	349	1	0	0	0	0	1	0	0	0	317	1116	39	2	601	2	ADIPOQ	3	186572353	Missense_Mutation	SNP	G	TCGA-KK-A8IM-01A-11D-A364-08		186572353	11450077	6	17600											
SEL1L3	23231	broad.mit.edu	37	chr4	25783895	25783895	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	caggaactccagggaagatgCcatccaaatgcaggactcca	14	5	10	12	0	0	1	0	0	0	1	3	4	3	4	4	3	3	1	4	3	3	0			TCGA-KK-A8IM-01A-11D-A364-08	TCGA-KK-A8IM-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8a17b3d-a5f6-48e8-b161-b9b6a528c3e6	ec655621-f470-4bca-ad72-e570cd3c3a42	g.chr4:25783895C>T	ENST00000399878.3	-	15	2548	c.2426G>A	c.(2425-2427)gGc>gAc	p.G809D	SEL1L3_ENST00000264868.5_Missense_Mutation_p.G774D|SEL1L3_ENST00000502949.1_Missense_Mutation_p.G656D	NM_015187.3	NP_056002.2	Q68CR1	SE1L3_HUMAN	sel-1 suppressor of lin-12-like 3 (C. elegans)	809						integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(2)	14						AGGGAAGATGCCATCCAAATG	0.443																																						ENST00000399878.3																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(2)	14						c.(2425-2427)gGc>gAc		sel-1 suppressor of lin-12-like 3 (C. elegans)							234	225	228					4																	25783895		1952	4137	6089	SO:0001583	missense	23231					integral to membrane	binding	g.chr4:25783895C>T	BC009945	CCDS47037.1, CCDS75113.1	4p15.2	2009-09-24			ENSG00000091490	ENSG00000091490			29108	protein-coding gene	gene with protein product	"KIAA0746 protein"					9872452	Standard	XM_005248143		Approved	KIAA0746	uc003gru.4	Q68CR1	OTTHUMG00000160331	ENST00000399878.3:c.2426G>A	4.37:g.25783895C>T	ENSP00000382767:p.Gly809Asp					SEL1L3_ENST00000502949.1_Missense_Mutation_p.G656D|SEL1L3_ENST00000264868.5_Missense_Mutation_p.G774D	p.G809D	NM_015187.3	NP_056002.2	Q68CR1	SE1L3_HUMAN			15	2548	-			809					A0PJH6|A8K0X2|O94847|Q6P999|Q96G59	Missense_Mutation	SNP	ENST00000399878.3	37	c.2426G>A	CCDS47037.1	.	.	.	.	.	.	.	.	.	.	C	19.71	3.878771	0.72294	.	.	ENSG00000091490	ENST00000399878;ENST00000264868;ENST00000502949	T;T;T	0.57907	0.37;0.37;0.37	5.53	5.53	0.82687	Tetratricopeptide-like helical (1);	0.000000	0.85682	D	0.000000	T	0.72851	0.3512	M	0.67397	2.05	0.54753	D	0.999988	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.74904	-0.3505	10	0.87932	D	0	-19.1713	19.4757	0.94987	0.0:1.0:0.0:0.0	.	216;809	B4DTH5;Q68CR1	.;SE1L3_HUMAN	D	809;774;656	ENSP00000382767:G809D;ENSP00000264868:G774D;ENSP00000425438:G656D	ENSP00000264868:G774D	G	-	2	0	SEL1L3	25392993	1.000000	0.71417	1.000000	0.80357	0.644000	0.38419	6.494000	0.73661	2.601000	0.87937	0.467000	0.42956	GGC		0.443	SEL1L3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360261.1	NM_015187		4	123	0	0	0	1	0	4	123					T	25783895	C	T	25783895	3	4	349	1	0	0	0	0	1	0	0	0	14012	739	26	3	1012	3	SEL1L3	4	25783895	Missense_Mutation	SNP	C	TCGA-KK-A8IM-01A-11D-A364-08		25783895	165370381	7	17601											
CTSO	1519	broad.mit.edu	37	chr4	156860533	156860533	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gactagtcaccttgtttaacCagttcaaagcattgagagta	13	12	8	8	0	2	1	2	1	0	1	2	3	2	1	2	0	2	4	2	0	4	7			TCGA-KK-A8IM-01A-11D-A364-08	TCGA-KK-A8IM-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8a17b3d-a5f6-48e8-b161-b9b6a528c3e6	ec655621-f470-4bca-ad72-e570cd3c3a42	g.chr4:156860533C>T	ENST00000433477.3	-	4	611	c.542G>A	c.(541-543)tGg>tAg	p.W181*		NM_001334.2	NP_001325.1	P43235	CATK_HUMAN	cathepsin O	188					bone resorption (GO:0045453)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|innate immune response (GO:0045087)|intramembranous ossification (GO:0001957)|proteolysis (GO:0006508)|proteolysis involved in cellular protein catabolic process (GO:0051603)|toll-like receptor signaling pathway (GO:0002224)	endolysosome lumen (GO:0036021)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	collagen binding (GO:0005518)|cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)|fibronectin binding (GO:0001968)|proteoglycan binding (GO:0043394)			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(3)|prostate(1)	16	all_hematologic(180;0.24)	Renal(120;0.0458)		KIRC - Kidney renal clear cell carcinoma(143;0.05)|Kidney(143;0.0627)|COAD - Colon adenocarcinoma(41;0.148)		CTTGTTTAACCAGTTCAAAGC	0.388																																					Pancreas(148;2303 2598 8989 35298)	ENST00000433477.3																			0				breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(3)|prostate(1)	16						c.(541-543)tGg>tAg		cathepsin O							106	109	108					4																	156860533		2203	4300	6503	SO:0001587	stop_gained	1519				proteolysis	lysosome	cysteine-type endopeptidase activity	g.chr4:156860533C>T	X77383	CCDS3794.1	4q32.1	2012-10-03			ENSG00000256043	ENSG00000256043		"Cathepsins"	2542	protein-coding gene	gene with protein product		600550		CTSO1		9790772	Standard	NM_001334		Approved		uc003ipg.3	P43234	OTTHUMG00000161942	ENST00000433477.3:c.542G>A	4.37:g.156860533C>T	ENSP00000414904:p.Trp181*						p.W181*	NM_001334.2	NP_001325.1	P43234	CATO_HUMAN		KIRC - Kidney renal clear cell carcinoma(143;0.05)|Kidney(143;0.0627)|COAD - Colon adenocarcinoma(41;0.148)	4	611	-	all_hematologic(180;0.24)	Renal(120;0.0458)	181					Q6FHS6	Nonsense_Mutation	SNP	ENST00000433477.3	37	c.542G>A	CCDS3794.1	.	.	.	.	.	.	.	.	.	.	C	37	6.603303	0.97697	.	.	ENSG00000256043	ENST00000433477	.	.	.	5.98	5.98	0.97165	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.27785	T	0.31	.	20.4447	0.99122	0.0:1.0:0.0:0.0	.	.	.	.	X	181	.	ENSP00000281527:W181X	W	-	2	0	CTSO	157079983	1.000000	0.71417	0.832000	0.32986	0.904000	0.53231	7.455000	0.80726	2.834000	0.97654	0.655000	0.94253	TGG		0.388	CTSO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366469.1	NM_001334		9	82	0	0	0	1	0	9	82					T	156860533	C	T	156860533	4	4	349	1	0	0	0	0	0	1	0	0	4040	595	21	3	443	3	CTSO	4	156860533	Nonsense_Mutation	SNP	C	TCGA-KK-A8IM-01A-11D-A364-08	131076638	156860533	34293743	8	17602											
VCAN	1462	broad.mit.edu	37	chr5	82837393	82837393	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaatagacgtcggctcatcTgtaatgtccccacaggattc	10	10	10	11	2	2	1	1	0	1	1	5	3	3	3	2	3	0	2	2	3	3	3			TCGA-KK-A8IM-01A-11D-A364-08	TCGA-KK-A8IM-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8a17b3d-a5f6-48e8-b161-b9b6a528c3e6	ec655621-f470-4bca-ad72-e570cd3c3a42	g.chr5:82837393T>A	ENST00000265077.3	+	8	9136	c.8571T>A	c.(8569-8571)tcT>tcA	p.S2857S	VCAN_ENST00000502527.2_Intron|VCAN-AS1_ENST00000513899.1_RNA|VCAN_ENST00000513016.1_3'UTR|VCAN_ENST00000342785.4_Intron|VCAN_ENST00000343200.5_Silent_p.S1870S|VCAN-AS1_ENST00000512090.1_RNA|VCAN_ENST00000512590.2_Intron	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	2857	GAG-beta.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|cell recognition (GO:0008037)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|heart development (GO:0007507)|multicellular organismal development (GO:0007275)|osteoblast differentiation (GO:0001649)|small molecule metabolic process (GO:0044281)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|glycosaminoglycan binding (GO:0005539)|hyaluronic acid binding (GO:0005540)			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	Hyaluronan(DB08818)	TCGGCTCATCTGTAATGTCCC	0.478																																						ENST00000265077.3																			0				NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190						c.(8569-8571)tcT>tcA		versican							86	87	87					5																	82837393		2203	4300	6503	SO:0001819	synonymous_variant	1462				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding	g.chr5:82837393T>A	X15998	CCDS4060.1, CCDS47242.1, CCDS54875.1, CCDS54876.1	5q14.2-q14.3	2013-05-07	2007-02-15	2007-02-15	ENSG00000038427	ENSG00000038427		"Immunoglobulin superfamily / V-set domain containing", "Proteoglycans / Extracellular Matrix : Hyalectans"	2464	protein-coding gene	gene with protein product	"versican proteoglycan"	118661	"chondroitin sulfate proteoglycan 2"	CSPG2		1478664, 21063030	Standard	NM_004385		Approved	PG-M	uc003kii.3	P13611	OTTHUMG00000131321	ENST00000265077.3:c.8571T>A	5.37:g.82837393T>A						VCAN-AS1_ENST00000513899.1_RNA|VCAN_ENST00000502527.2_Intron|VCAN_ENST00000512590.2_Intron|VCAN_ENST00000343200.5_Silent_p.S1870S|VCAN_ENST00000513016.1_3'UTR|VCAN_ENST00000342785.4_Intron|VCAN-AS1_ENST00000512090.1_RNA	p.S2857S	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	8	9136	+		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)	2857			GAG-beta.		P20754|Q13010|Q13189|Q15123|Q9UCL9|Q9UNW5	Silent	SNP	ENST00000265077.3	37	c.8571T>A	CCDS4060.1																																																																																				0.478	VCAN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254092.3	NM_004385		3	70	0	0	0	1	0	3	70					A	82837393	T	A	82837393	2	1	349	1	0	0	0	0	0	0	0	1	17135	1567	55	5		5	VCAN	5	82837393	Silent	SNP	T	TCGA-KK-A8IM-01A-11D-A364-08		82837393	98077867	9	17603											
MCTP1	79772	broad.mit.edu	37	chr5	94288922	94288922	+	Splice_Site	DEL	C	C	-																															aaaaacaaataaatggctcaCctttatatacaatggctccc																										TCGA-KK-A8IM-01A-11D-A364-08	TCGA-KK-A8IM-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8a17b3d-a5f6-48e8-b161-b9b6a528c3e6	ec655621-f470-4bca-ad72-e570cd3c3a42	g.chr5:94288922delC	ENST00000515393.1	-	3	981		c.e3+1		MCTP1_ENST00000429576.2_Splice_Site|MCTP1_ENST00000312216.8_Splice_Site|MCTP1_ENST00000505208.1_Splice_Site	NM_024717.4	NP_078993.4	Q6DN14	MCTP1_HUMAN	multiple C2 domains, transmembrane 1						calcium-mediated signaling (GO:0019722)	integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)			breast(1)|endometrium(3)|large_intestine(13)|liver(2)|lung(13)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1)	41		all_cancers(142;1.68e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0167)|Lung NSC(167;0.0207)|Ovarian(225;0.0218)|Colorectal(57;0.207)		all cancers(79;9.1e-17)		AAATGGCTCACCTTTATATAC	0.363																																						ENST00000515393.1																			0				breast(1)|endometrium(3)|large_intestine(13)|liver(2)|lung(13)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1)	41						c.e3+1		multiple C2 domains, transmembrane 1							79	74	75					5																	94288922		2203	4300	6503	SO:0001630	splice_region_variant	79772				calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding	g.chr5:94288922delC		CCDS34203.1, CCDS47247.1, CCDS75275.1	5q15	2008-02-05			ENSG00000175471	ENSG00000175471			26183	protein-coding gene	gene with protein product						15528213	Standard	XM_005272082		Approved	FLJ22344	uc003kkx.2	Q6DN14	OTTHUMG00000162742	ENST00000515393.1:c.981+1G>-	5.37:g.94288922delC						MCTP1_ENST00000312216.8_Splice_Site|MCTP1_ENST00000505208.1_Splice_Site|MCTP1_ENST00000429576.2_Splice_Site		NM_024717.4	NP_078993.4	Q6DN14	MCTP1_HUMAN		all cancers(79;9.1e-17)	3	981	-		all_cancers(142;1.68e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0167)|Lung NSC(167;0.0207)|Ovarian(225;0.0218)|Colorectal(57;0.207)						Q6DN13|Q8N2W1|Q8NBA2|Q96LX0|Q9H6E8	Splice_Site	DEL	ENST00000515393.1	37		CCDS34203.1																																																																																				0.363	MCTP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000370280.3	NM_024717	Intron	8	50						8	50	---	---	---	---	-	94288922	C	-	94288922	8	5	349	1	0	1	0	1	0	0	1	0	9400	521	18	0	2101	0	MCTP1	5	94288922	Splice_Site	DEL	C	TCGA-KK-A8IM-01A-11D-A364-08	11451529	94288922	86626338	10	17604											
PCDHB8	56128	broad.mit.edu	37	chr5	140558697	140558697	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cagcccaatacctgagaatgCgcctgaaactgtggttgcac	11	8	10	12	1	0	2	0	2	0	1	0	3	0	2	3	1	5	2	3	1	4	2			TCGA-KK-A8IM-01A-11D-A364-08	TCGA-KK-A8IM-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8a17b3d-a5f6-48e8-b161-b9b6a528c3e6	ec655621-f470-4bca-ad72-e570cd3c3a42	g.chr5:140558697C>T	ENST00000239444.2	+	1	1327	c.1082C>T	c.(1081-1083)gCg>gTg	p.A361V	PCDHB16_ENST00000361016.2_5'Flank	NM_019120.3	NP_061993.2	Q9UN66	PCDB8_HUMAN	protocadherin beta 8	361	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.A361V(1)		NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCTGAGAATGCGCCTGAAACT	0.448																																						ENST00000239444.2																			1	Substitution - Missense(1)	p.A361V(1)	large_intestine(1)	NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83						c.(1081-1083)gCg>gTg									229	298	274					5																	140558697		2203	4300	6503	SO:0001583	missense	0				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140558697C>T	AF152501	CCDS4250.1	5q31	2010-01-26			ENSG00000120322	ENSG00000120322		"Cadherins / Protocadherins : Clustered"	8693	other	protocadherin		606334				10380929	Standard	NM_019120		Approved	PCDH-BETA8, PCDH3I	uc011dai.2	Q9UN66	OTTHUMG00000129621	ENST00000239444.2:c.1082C>T	5.37:g.140558697C>T	ENSP00000239444:p.Ala361Val						p.A361V	NM_019120.3	NP_061993.2	Q9UN66	PCDB8_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1327	+			361			Cadherin 4.		B9EGV1	Missense_Mutation	SNP	ENST00000239444.2	37	c.1082C>T	CCDS4250.1	.	.	.	.	.	.	.	.	.	.	C	6.054	0.378255	0.11466	.	.	ENSG00000120322	ENST00000239444	T	0.03663	3.85	4.25	2.42	0.29668	Cadherin (3);Cadherin-like (1);	.	.	.	.	T	0.05823	0.0152	L	0.53249	1.67	0.09310	N	1	B	0.32382	0.368	B	0.35859	0.212	T	0.28427	-1.0044	9	0.66056	D	0.02	.	8.99	0.36017	0.0:0.8118:0.0:0.1882	.	361	Q9UN66	PCDB8_HUMAN	V	361	ENSP00000239444:A361V	ENSP00000239444:A361V	A	+	2	0	PCDHB8	140538881	0.000000	0.05858	0.002000	0.10522	0.021000	0.10359	0.087000	0.14958	0.250000	0.21479	-0.225000	0.12378	GCG		0.448	PCDHB8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251816.2	NM_019120		5	397	0	0	0	1	0	5	397					T	140558697	C	T	140558697	3	4	349	1	0	0	0	0	1	0	0	0	11548	768	27	1	1084	1	PCDHB8	5	140558697	Missense_Mutation	SNP	C	TCGA-KK-A8IM-01A-11D-A364-08	46269775	140558697	40356563	11	17605											
DCTN4	51164	broad.mit.edu	37	chr5	150095125	150095125	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggatcacaaaaagatcactcActcaggatcgtcctgaaagt	15	8	8	10	1	4	2	4	1	0	1	6	4	5	4	1	2	0	0	1	2	3	0			TCGA-KK-A8IM-01A-11D-A364-08	TCGA-KK-A8IM-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8a17b3d-a5f6-48e8-b161-b9b6a528c3e6	ec655621-f470-4bca-ad72-e570cd3c3a42	g.chr5:150095125A>G	ENST00000447998.2	-	12	1285		c.e12+1		DCTN4_ENST00000424236.1_Splice_Site|DCTN4_ENST00000446090.2_Splice_Site	NM_016221.3	NP_057305.1	Q9UJW0	DCTN4_HUMAN	dynactin 4 (p62)						antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dynactin complex (GO:0005869)|nucleus (GO:0005634)	protein N-terminus binding (GO:0047485)			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	10		Medulloblastoma(196;0.167)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AAGATCACTCACTCAGGATCG	0.428																																						ENST00000447998.2																			0				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	10						c.e12+1		dynactin 4 (p62)							123	100	108					5																	150095125		2203	4300	6503	SO:0001630	splice_region_variant	51164					centrosome|nucleus	protein N-terminus binding	g.chr5:150095125A>G	AF195120	CCDS4310.1, CCDS47310.1, CCDS47311.1	5q31-q32	2008-05-23			ENSG00000132912	ENSG00000132912			15518	protein-coding gene	gene with protein product		614758				10843801, 16554302	Standard	NM_016221		Approved		uc010jhi.3	Q9UJW0	OTTHUMG00000130079	ENST00000447998.2:c.1169+1T>C	5.37:g.150095125A>G						DCTN4_ENST00000424236.1_Splice_Site|DCTN4_ENST00000446090.2_Splice_Site		NM_016221.3	NP_057305.1	Q9UJW0	DCTN4_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		12	1285	-		Medulloblastoma(196;0.167)						B3KWW0|D3DQH0|E5RGT5|Q8TAN8	Splice_Site	SNP	ENST00000447998.2	37		CCDS4310.1	.	.	.	.	.	.	.	.	.	.	A	14.16	2.451951	0.43531	.	.	ENSG00000132912	ENST00000447998;ENST00000424236;ENST00000446090	.	.	.	5.62	5.62	0.85841	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.1251	0.81386	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	DCTN4	150075318	1.000000	0.71417	1.000000	0.80357	0.092000	0.18411	8.742000	0.91588	2.267000	0.75376	0.477000	0.44152	.		0.428	DCTN4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000252372.1		Intron	4	30	0	0	0	1	0	4	30					G	150095125	A	G	150095125	5	3	349	1	0	0	0	0	0	0	1	0	4309	173	6	4	219	4	DCTN4	5	150095125	Splice_Site	SNP	A	TCGA-KK-A8IM-01A-11D-A364-08	9536428	150095125	30820135	12	17606											
IL12B	3593	broad.mit.edu	37	chr5	158753717	158753717	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggttaccatctttcttcagtTcccatatggccacgagggga	8	12	10	11	1	3	0	1	0	2	0	4	2	4	1	3	4	1	2	3	4	2	5			TCGA-KK-A8IM-01A-11D-A364-08	TCGA-KK-A8IM-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8a17b3d-a5f6-48e8-b161-b9b6a528c3e6	ec655621-f470-4bca-ad72-e570cd3c3a42	g.chr5:158753717T>A	ENST00000231228.2	-	2	529	c.74A>T	c.(73-75)gAa>gTa	p.E25V		NM_002187.2	NP_002178.2	P29460	IL12B_HUMAN	interleukin 12B	25	Ig-like C2-type.				cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular response to interferon-gamma (GO:0071346)|cellular response to lipopolysaccharide (GO:0071222)|defense response to Gram-negative bacterium (GO:0050829)|defense response to protozoan (GO:0042832)|defense response to virus (GO:0051607)|interferon-gamma biosynthetic process (GO:0042095)|natural killer cell activation (GO:0030101)|natural killer cell activation involved in immune response (GO:0002323)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of inflammatory response to antigenic stimulus (GO:0002862)|negative regulation of interleukin-10 production (GO:0032693)|negative regulation of interleukin-17 production (GO:0032700)|negative regulation of smooth muscle cell proliferation (GO:0048662)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of activation of JAK2 kinase activity (GO:0010535)|positive regulation of cell adhesion (GO:0045785)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of granulocyte macrophage colony-stimulating factor production (GO:0032725)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-17 production (GO:0032740)|positive regulation of lymphocyte proliferation (GO:0050671)|positive regulation of memory T cell differentiation (GO:0043382)|positive regulation of mononuclear cell proliferation (GO:0032946)|positive regulation of natural killer cell activation (GO:0032816)|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target (GO:0002860)|positive regulation of natural killer cell proliferation (GO:0032819)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NK T cell activation (GO:0051135)|positive regulation of NK T cell proliferation (GO:0051142)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of T-helper 1 type immune response (GO:0002827)|positive regulation of T-helper 17 cell lineage commitment (GO:2000330)|positive regulation of T-helper 17 type immune response (GO:2000318)|positive regulation of tissue remodeling (GO:0034105)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat4 protein (GO:0042520)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|regulation of cytokine biosynthetic process (GO:0042035)|regulation of tyrosine phosphorylation of Stat1 protein (GO:0042510)|response to UV-B (GO:0010224)|sensory perception of pain (GO:0019233)|sexual reproduction (GO:0019953)|T-helper 1 type immune response (GO:0042088)|T-helper cell differentiation (GO:0042093)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|interleukin-12 complex (GO:0043514)|interleukin-23 complex (GO:0070743)|membrane (GO:0016020)	cytokine receptor activity (GO:0004896)|identical protein binding (GO:0042802)|interleukin-12 alpha subunit binding (GO:0042164)|interleukin-12 receptor binding (GO:0005143)|protein heterodimerization activity (GO:0046982)			cervix(1)|endometrium(1)|large_intestine(5)|lung(4)	11	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TTTCTTCAGTTCCCATATGGC	0.502																																						ENST00000231228.2																			0				cervix(1)|endometrium(1)|large_intestine(5)|lung(4)	11						c.(73-75)gAa>gTa		interleukin 12B (natural killer cell stimulatory factor 2, cytotoxic lymphocyte maturation factor 2, p40)							79	83	82					5																	158753717		2203	4300	6503	SO:0001583	missense	3593				cell cycle arrest|cell migration|defense response to Gram-negative bacterium|interferon-gamma biosynthetic process|natural killer cell activation|negative regulation of interleukin-10 production|negative regulation of interleukin-17 production|negative regulation of smooth muscle cell proliferation|positive regulation of activated T cell proliferation|positive regulation of activation of JAK2 kinase activity|positive regulation of cell adhesion|positive regulation of defense response to virus by host|positive regulation of granulocyte macrophage colony-stimulating factor production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interferon-gamma production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-17 production|positive regulation of memory T cell differentiation|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target|positive regulation of natural killer cell proliferation|positive regulation of NF-kappaB import into nucleus|positive regulation of NK T cell activation|positive regulation of NK T cell proliferation|positive regulation of osteoclast differentiation|positive regulation of smooth muscle cell apoptosis|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response|positive regulation of tumor necrosis factor production|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat4 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|regulation of tyrosine phosphorylation of Stat1 protein|response to UV-B|sexual reproduction|T-helper 1 type immune response|T-helper cell differentiation	interleukin-12 complex|interleukin-23 complex|membrane	cytokine activity|cytokine receptor activity|interleukin-12 receptor binding|protein heterodimerization activity	g.chr5:158753717T>A	M65290	CCDS4346.1	5q31.1-q33.1	2014-09-17	2014-04-04		ENSG00000113302	ENSG00000113302		"Interleukins and interleukin receptors", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5970	protein-coding gene	gene with protein product	"natural killer cell stimulatory factor-2", "cytotoxic lymphocyte maturation factor 2, p40", "interleukin 12, p40", "natural killer cell stimulatory factor, 40 kD subunit", "interleukin-12 beta chain", "IL12, subunit p40"	161561	"interleukin 12B (natural killer cell stimulatory factor 2, cytotoxic lymphocyte maturation factor 2, p40)"	NKSF2		1673147	Standard	NM_002187		Approved	CLMF, IL-12B, NKSF, CLMF2	uc003lxr.1	P29460	OTTHUMG00000130307	ENST00000231228.2:c.74A>T	5.37:g.158753717T>A	ENSP00000231228:p.Glu25Val						p.E25V	NM_002187.2	NP_002178.2	P29460	IL12B_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		2	529	-	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	25			Ig-like C2-type.			Missense_Mutation	SNP	ENST00000231228.2	37	c.74A>T	CCDS4346.1	.	.	.	.	.	.	.	.	.	.	T	17.86	3.492943	0.64074	.	.	ENSG00000113302	ENST00000231228	T	0.19105	2.17	5.64	5.64	0.86602	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.387651	0.30003	N	0.010650	T	0.29256	0.0728	M	0.67397	2.05	0.42401	D	0.992567	P	0.36909	0.573	B	0.42386	0.386	T	0.03555	-1.1025	10	0.33141	T	0.24	.	12.5557	0.56252	0.0:0.0:0.0:1.0	.	25	P29460	IL12B_HUMAN	V	25	ENSP00000231228:E25V	ENSP00000231228:E25V	E	-	2	0	IL12B	158686295	1.000000	0.71417	1.000000	0.80357	0.911000	0.54048	3.903000	0.56318	2.285000	0.76669	0.533000	0.62120	GAA		0.502	IL12B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252652.2	NM_002187		6	33	0	0	0	1	0	6	33					A	158753717	T	A	158753717	3	1	349	1	0	0	0	0	1	0	0	0	7625	1783	62	5	936	5	IL12B	5	158753717	Missense_Mutation	SNP	T	TCGA-KK-A8IM-01A-11D-A364-08	8658592	158753717	22161543	13	17607											
ZNF318	24149	broad.mit.edu	37	chr6	43323546	43323546	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cagccaacatgctcagaatgCgggaaaaaccactgccatcc	14	5	8	14	1	1	1	1	0	0	1	2	2	2	2	4	1	6	1	4	1	4	0	rs147691068		TCGA-KK-A8IM-01A-11D-A364-08	TCGA-KK-A8IM-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8a17b3d-a5f6-48e8-b161-b9b6a528c3e6	ec655621-f470-4bca-ad72-e570cd3c3a42	g.chr6:43323546C>T	ENST00000361428.2	-	4	1603	c.1526G>A	c.(1525-1527)cGc>cAc	p.R509H	ZNF318_ENST00000318149.3_Missense_Mutation_p.R509H	NM_014345.2	NP_055160.2	Q5VUA4	ZN318_HUMAN	zinc finger protein 318	509					meiotic nuclear division (GO:0007126)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)			GCTCAGAATGCGGGAAAAACC	0.488																																						ENST00000361428.2																			0				autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61						c.(1525-1527)cGc>cAc		zinc finger protein 318							193	198	196					6																	43323546		2203	4300	6503	SO:0001583	missense	24149				meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|zinc ion binding	g.chr6:43323546C>T	AF090114	CCDS4895.2	6p21.1	2013-09-19			ENSG00000171467	ENSG00000171467		"Zinc fingers, C2H2-type"	13578	protein-coding gene	gene with protein product						10873617	Standard	NM_014345		Approved	HRIHFB2436, ZFP318	uc003oux.3	Q5VUA4	OTTHUMG00000014732	ENST00000361428.2:c.1526G>A	6.37:g.43323546C>T	ENSP00000354964:p.Arg509His					ZNF318_ENST00000318149.3_Missense_Mutation_p.R509H	p.R509H	NM_014345.2	NP_055160.2	Q5VUA4	ZN318_HUMAN	Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)		4	1603	-			509					O94796|Q4G0E4|Q8NEM6|Q9UNU8|Q9Y2W9	Missense_Mutation	SNP	ENST00000361428.2	37	c.1526G>A	CCDS4895.2	.	.	.	.	.	.	.	.	.	.	C	21.8	4.205238	0.79127	.	.	ENSG00000171467	ENST00000318149;ENST00000361428	T;T	0.03358	3.96;3.96	6.17	6.17	0.99709	.	0.206696	0.43416	D	0.000578	T	0.05181	0.0138	L	0.27053	0.805	0.43729	D	0.996211	D	0.67145	0.996	P	0.56278	0.795	T	0.45571	-0.9252	10	0.72032	D	0.01	-2.4481	19.0599	0.93085	0.0:1.0:0.0:0.0	.	509	Q5VUA4	ZN318_HUMAN	H	509	ENSP00000323032:R509H;ENSP00000354964:R509H	ENSP00000323032:R509H	R	-	2	0	ZNF318	43431524	0.999000	0.42202	1.000000	0.80357	0.985000	0.73830	3.076000	0.50081	2.941000	0.99782	0.655000	0.94253	CGC		0.488	ZNF318-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040601.2	NM_014345		7	337	0	0	0	1	0	7	337					T	43323546	C	T	43323546	3	4	349	1	0	0	0	0	1	0	0	0	17833	768	27	1	5341	1	ZNF318	6	43323546	Missense_Mutation	SNP	C	TCGA-KK-A8IM-01A-11D-A364-08		43323546	127791521	14	17608											
KIAA0776	23376	broad.mit.edu	37	chr6	96990865	96990865	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gaagaaaagatgatgatagtGatgatgaatctcaatcatcc	17	10	9	5	0	2	7	2	5	1	2	4	8	3	7	1	0	0	0	1	0	6	1			TCGA-KK-A8IM-01A-11D-A364-08	TCGA-KK-A8IM-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8a17b3d-a5f6-48e8-b161-b9b6a528c3e6	ec655621-f470-4bca-ad72-e570cd3c3a42	g.chr6:96990865G>A	ENST00000369278.4	+	12	1441	c.1375G>A	c.(1375-1377)Gat>Aat	p.D459N		NM_015323.4	NP_056138.1	O94874	UFL1_HUMAN	UFM1-specific ligase 1	459					negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein ubiquitination (GO:0031397)|osteoblast differentiation (GO:0001649)|protein ufmylation (GO:0071569)|regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032434)|response to endoplasmic reticulum stress (GO:0034976)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleus (GO:0005634)	UFM1 conjugating enzyme activity (GO:0071568)										TGATGATAGTGATGATGAATC	0.378																																						ENST00000369278.4																			0											c.(1375-1377)Gat>Aat		UFM1-specific ligase 1							100	98	99					6																	96990865		2203	4300	6503	SO:0001583	missense	23376				negative regulation of NF-kappaB transcription factor activity|negative regulation of protein ubiquitination|protein ufmylation	endoplasmic reticulum|nucleus	protein binding|UFM1 conjugating enzyme activity	g.chr6:96990865G>A	BC036379	CCDS5034.1	6q16.3	2011-08-18	2011-08-18	2011-08-18	ENSG00000014123	ENSG00000014123			23039	protein-coding gene	gene with protein product	"novel LZAP-binding protein", "Regulator of CDK5RAP3 and DDRGK1"	613372	"KIAA0776"	KIAA0776		20018847, 20164180, 20228063, 20531390	Standard	NM_015323		Approved	NLBP, Maxer, RCAD	uc003por.3	O94874	OTTHUMG00000015238	ENST00000369278.4:c.1375G>A	6.37:g.96990865G>A	ENSP00000358283:p.Asp459Asn						p.D459N	NM_015323.4	NP_056138.1	O94874	UFL1_HUMAN			12	1441	+			459					A0PJ53|B4DJ57|C0H5X5|Q8N765|Q9NTQ0	Missense_Mutation	SNP	ENST00000369278.4	37	c.1375G>A	CCDS5034.1	.	.	.	.	.	.	.	.	.	.	G	19.54	3.847125	0.71603	.	.	ENSG00000014123	ENST00000369278	T	0.50548	0.74	5.92	5.92	0.95590	.	0.084527	0.85682	D	0.000000	T	0.46308	0.1386	M	0.64404	1.975	0.80722	D	1	P	0.47191	0.891	P	0.46452	0.517	T	0.41124	-0.9526	10	0.45353	T	0.12	-13.0541	19.3156	0.94211	0.0:0.0:1.0:0.0	.	459	O94874	UFL1_HUMAN	N	459	ENSP00000358283:D459N	ENSP00000358283:D459N	D	+	1	0	KIAA0776	97097586	1.000000	0.71417	1.000000	0.80357	0.129000	0.20672	8.502000	0.90505	2.799000	0.96334	0.655000	0.94253	GAT		0.378	UFL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041557.1	NM_015323		20	47	0	0	0	1	0	20	47					A	96990865	G	A	96990865	3	1	349	1	0	0	0	0	1	0	0	0	8193	1290	45	3	1421	3	KIAA0776	6	96990865	Missense_Mutation	SNP	G	TCGA-KK-A8IM-01A-11D-A364-08	53667319	96990865	74124202	15	17609											
TMEM196	256130	broad.mit.edu	37	chr7	19765279	19765279	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tgcacgcgagagacatggagGcaaggtgcagtgggtatagg	11	6	18	6	2	0	1	0	0	0	1	0	4	0	2	0	5	2	4	0	5	3	2			TCGA-KK-A8IM-01A-11D-A364-08	TCGA-KK-A8IM-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8a17b3d-a5f6-48e8-b161-b9b6a528c3e6	ec655621-f470-4bca-ad72-e570cd3c3a42	g.chr7:19765279G>A	ENST00000405764.3	-	3	1013	c.317C>T	c.(316-318)gCc>gTc	p.A106V	TMEM196_ENST00000493519.1_Missense_Mutation_p.A38V|TMEM196_ENST00000433641.1_Missense_Mutation_p.A38V|TMEM196_ENST00000422233.1_Missense_Mutation_p.A38V|TMEM196_ENST00000405844.1_Missense_Mutation_p.A106V	NM_152774.3	NP_689987.3	Q5HYL7	TM196_HUMAN	transmembrane protein 196	112						integral component of membrane (GO:0016021)				breast(1)|large_intestine(1)|lung(4)	6						AGACATGGAGGCAAGGTGCAG	0.522																																						ENST00000405844.1																			0				breast(1)|large_intestine(1)|lung(4)	6						c.(316-318)gCc>gTc		transmembrane protein 196							107	100	102					7																	19765279		2203	4300	6503	SO:0001583	missense	256130					integral to membrane		g.chr7:19765279G>A		CCDS34607.2	7p15.3	2007-11-21			ENSG00000173452	ENSG00000173452			22431	protein-coding gene	gene with protein product							Standard	NM_152774		Approved	MGC42090	uc011jyg.2	Q5HYL7	OTTHUMG00000152504	ENST00000405764.3:c.317C>T	7.37:g.19765279G>A	ENSP00000384234:p.Ala106Val					TMEM196_ENST00000422233.1_Missense_Mutation_p.A38V|TMEM196_ENST00000433641.1_Missense_Mutation_p.A38V|TMEM196_ENST00000405764.3_Missense_Mutation_p.A106V|TMEM196_ENST00000493519.1_Missense_Mutation_p.A38V	p.A106V			Q5HYL7	TM196_HUMAN			3	1012	-			112					Q8N6I6	Missense_Mutation	SNP	ENST00000405764.3	37	c.317C>T	CCDS34607.2	.	.	.	.	.	.	.	.	.	.	G	17.03	3.283566	0.59867	.	.	ENSG00000173452	ENST00000405844;ENST00000405764;ENST00000422233;ENST00000433641;ENST00000493519	.	.	.	5.75	5.75	0.90469	.	0.000000	0.85682	D	0.000000	T	0.56659	0.2000	L	0.32530	0.975	0.80722	D	1	B	0.25904	0.137	B	0.25759	0.063	T	0.55198	-0.8178	9	0.72032	D	0.01	1.94	19.9392	0.97153	0.0:0.0:1.0:0.0	.	106	Q5HYL7-4	.	V	106;106;38;38;38	.	ENSP00000384234:A106V	A	-	2	0	TMEM196	19731804	1.000000	0.71417	0.998000	0.56505	0.573000	0.36030	9.466000	0.97665	2.713000	0.92767	0.655000	0.94253	GCC		0.522	TMEM196-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326499.1	NM_152774		3	51	0	0	0	1	0	3	51					A	19765279	G	A	19765279	3	1	349	1	0	0	0	0	1	0	0	0	16115	1203	42	3	209	3	TMEM196	7	19765279	Missense_Mutation	SNP	G	TCGA-KK-A8IM-01A-11D-A364-08		19765279	139373384	16	17610											
XKR4	114786	broad.mit.edu	37	chr8	56436082	56436082	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcatcatgaccttctggatcGtccactgtgagacagaattc	10	11	9	11	1	2	3	1	2	1	2	5	5	3	4	2	1	0	1	2	1	1	2			TCGA-KK-A8IM-01A-11D-A364-08	TCGA-KK-A8IM-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8a17b3d-a5f6-48e8-b161-b9b6a528c3e6	ec655621-f470-4bca-ad72-e570cd3c3a42	g.chr8:56436082G>A	ENST00000327381.6	+	3	1349	c.1249G>A	c.(1249-1251)Gtc>Atc	p.V417I	RP11-628E19.2_ENST00000522918.1_RNA	NM_052898.1	NP_443130.1	Q5GH76	XKR4_HUMAN	XK, Kell blood group complex subunit-related family, member 4	417						integral component of membrane (GO:0016021)				NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34			Epithelial(17;0.000117)|all cancers(17;0.000836)			CTTCTGGATCGTCCACTGTGA	0.483																																						ENST00000327381.5																			0				NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34						c.(1249-1251)Gtc>Atc		XK, Kell blood group complex subunit-related family, member 4							277	236	250					8																	56436082		2203	4300	6503	SO:0001583	missense	114786					integral to membrane		g.chr8:56436082G>A	AY534241	CCDS34893.1	8q12.1	2006-01-12	2006-01-12		ENSG00000206579	ENSG00000206579			29394	protein-coding gene	gene with protein product			"X Kell blood group precursor-related family, member 4"				Standard	NM_052898		Approved	KIAA1889	uc003xsf.3	Q5GH76	OTTHUMG00000164288	ENST00000327381.6:c.1249G>A	8.37:g.56436082G>A	ENSP00000328326:p.Val417Ile						p.V417I	NM_052898.1	NP_443130.1	Q5GH76	XKR4_HUMAN	Epithelial(17;0.000117)|all cancers(17;0.000836)		3	1349	+			417					Q96PZ8	Missense_Mutation	SNP	ENST00000327381.6	37	c.1249G>A	CCDS34893.1	.	.	.	.	.	.	.	.	.	.	G	10.65	1.409707	0.25465	.	.	ENSG00000206579	ENST00000327381;ENST00000543752	T	0.62232	0.04	5.56	5.56	0.83823	.	0.055983	0.64402	D	0.000001	T	0.49457	0.1558	N	0.11724	0.165	0.58432	D	0.99999	P	0.52170	0.951	P	0.48270	0.572	T	0.48525	-0.9028	10	0.02654	T	1	-6.8011	19.5149	0.95159	0.0:0.0:1.0:0.0	.	417	Q5GH76	XKR4_HUMAN	I	417	ENSP00000328326:V417I	ENSP00000328326:V417I	V	+	1	0	XKR4	56598636	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.062000	0.89475	2.618000	0.88619	0.557000	0.71058	GTC		0.483	XKR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378129.2	NM_052898		28	87	0	0	0	1	0	28	87					A	56436082	G	A	56436082	3	1	349	1	0	0	0	0	1	0	0	0	17430	1145	40	1	1259	1	XKR4	8	56436082	Missense_Mutation	SNP	G	TCGA-KK-A8IM-01A-11D-A364-08		56436082	89927940	17	17611											
PTPRD	5789	broad.mit.edu	37	chr9	8317916	8317916	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgcccaggtactctagtgcGgcacgataggaaaactgata	12	8	11	10	2	1	1	0	1	1	0	1	3	1	2	1	3	4	2	1	3	6	4	rs201560685		TCGA-KK-A8IM-01A-11D-A364-08	TCGA-KK-A8IM-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8a17b3d-a5f6-48e8-b161-b9b6a528c3e6	ec655621-f470-4bca-ad72-e570cd3c3a42	g.chr9:8317916G>A	ENST00000381196.4	-	43	6240	c.5697C>T	c.(5695-5697)gcC>gcT	p.A1899A	PTPRD_ENST00000486161.1_Silent_p.A1492A|PTPRD_ENST00000397617.3_Silent_p.A1492A|PTPRD_ENST00000540109.1_Silent_p.A1899A|PTPRD_ENST00000356435.5_Silent_p.A1899A|PTPRD_ENST00000397606.3_Silent_p.A1492A|PTPRD_ENST00000397611.3_Silent_p.A1489A|PTPRD_ENST00000537002.1_Silent_p.A1489A|PTPRD_ENST00000360074.4_Silent_p.A1886A|PTPRD_ENST00000358503.5_Silent_p.A1877A|PTPRD_ENST00000355233.5_Silent_p.A1493A	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	1899	Tyrosine-protein phosphatase 2. {ECO:0000255|PROSITE-ProRule:PRU00160}.				heterophilic cell-cell adhesion (GO:0007157)|neuron differentiation (GO:0030182)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|positive regulation of dendrite morphogenesis (GO:0050775)|presynaptic membrane assembly (GO:0097105)|protein dephosphorylation (GO:0006470)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	cell adhesion molecule binding (GO:0050839)|receptor binding (GO:0005102)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		ACTCTAGTGCGGCACGATAGG	0.423										TSP Lung(15;0.13)			G|||	1	0.000199681	0	0	5008	,	,		16645	0.001		0	False		,,,				2504	0					ENST00000381196.4																			0				NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168						c.(5695-5697)gcC>gcT		protein tyrosine phosphatase, receptor type, D							132	137	135					9																	8317916		2203	4299	6502	SO:0001819	synonymous_variant	5789				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr9:8317916G>A	X54133	CCDS6472.1, CCDS43786.1, CCDS6472.2, CCDS55288.1, CCDS55289.1, CCDS55290.1, CCDS75813.1	9p24.1-p23	2013-02-11			ENSG00000153707	ENSG00000153707		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	9668	protein-coding gene	gene with protein product		601598				7896816, 8355697	Standard	NM_002839		Approved	PTPD, HPTP	uc003zkk.3	P23468	OTTHUMG00000021005	ENST00000381196.4:c.5697C>T	9.37:g.8317916G>A		TSP Lung(15;0.13)				PTPRD_ENST00000397611.3_Silent_p.A1489A|PTPRD_ENST00000360074.4_Silent_p.A1886A|PTPRD_ENST00000397617.3_Silent_p.A1492A|PTPRD_ENST00000358503.5_Silent_p.A1877A|PTPRD_ENST00000540109.1_Silent_p.A1899A|PTPRD_ENST00000537002.1_Silent_p.A1489A|PTPRD_ENST00000486161.1_Silent_p.A1492A|PTPRD_ENST00000356435.5_Silent_p.A1899A|PTPRD_ENST00000355233.5_Silent_p.A1493A|PTPRD_ENST00000397606.3_Silent_p.A1492A	p.A1899A	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)	43	6240	-		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)	1899			Tyrosine-protein phosphatase 2.		B1ALA0|F5GWT7|Q3KPJ0|Q3KPJ1|Q3KPJ2	Silent	SNP	ENST00000381196.4	37	c.5697C>T	CCDS43786.1																																																																																				0.423	PTPRD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055395.3			12	89	0	0	0	1	0	12	89					A	8317916	G	A	8317916	2	1	349	1	0	0	0	0	0	0	0	1	12799	1103	39	2		2	PTPRD	9	8317916	Silent	SNP	G	TCGA-KK-A8IM-01A-11D-A364-08		8317916	132895515	18	17612											
GAD2	2572	broad.mit.edu	37	chr10	26506848	26506848	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggccgccgcccggaaggccGcctgcgcctgcgaccagaag	6	2	16	17	6	0	1	0	0	0	1	0	3	0	2	7	3	2	0	7	3	2	0			TCGA-KK-A8IM-01A-11D-A364-08	TCGA-KK-A8IM-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8a17b3d-a5f6-48e8-b161-b9b6a528c3e6	ec655621-f470-4bca-ad72-e570cd3c3a42	g.chr10:26506848G>A	ENST00000376261.3	+	3	717	c.214G>A	c.(214-216)Gcc>Acc	p.A72T	GAD2_ENST00000259271.3_Missense_Mutation_p.A72T|GAD2_ENST00000376248.1_5'Flank	NM_001134366.1	NP_001127838.1	Q05329	DCE2_HUMAN	glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa)	72					glutamate decarboxylation to succinate (GO:0006540)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter secretion (GO:0007269)|response to drug (GO:0042493)|synaptic transmission (GO:0007268)	anchored component of membrane (GO:0031225)|axon (GO:0030424)|cell junction (GO:0030054)|clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane (GO:0061202)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|synaptic vesicle membrane (GO:0030672)	glutamate binding (GO:0016595)|glutamate decarboxylase activity (GO:0004351)|pyridoxal phosphate binding (GO:0030170)			central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(26)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						ccggAAGGCCGCCTGCGCCTG	0.692																																						ENST00000376261.3																			0				central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(26)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						c.(214-216)Gcc>Acc		glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa)	L-Glutamic Acid(DB00142)						15	20	18					10																	26506848		2195	4291	6486	SO:0001583	missense	2572				glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion	cell junction|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|Golgi membrane|presynaptic membrane	glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding	g.chr10:26506848G>A	AJ251501	CCDS7149.1	10p13-p11.2	2003-11-11	2002-08-29		ENSG00000136750	ENSG00000136750	4.1.1.15		4093	protein-coding gene	gene with protein product		138275	"glutamate decarboxylase 2 (pancreatic islets and brain, 65kD)"			2039509	Standard	NM_000818		Approved	GAD65	uc001isp.2	Q05329	OTTHUMG00000017836	ENST00000376261.3:c.214G>A	10.37:g.26506848G>A	ENSP00000365437:p.Ala72Thr					GAD2_ENST00000259271.3_Missense_Mutation_p.A72T	p.A72T	NM_001134366.1	NP_001127838.1	Q05329	DCE2_HUMAN			3	717	+			72					Q9UD87	Missense_Mutation	SNP	ENST00000376261.3	37	c.214G>A	CCDS7149.1	.	.	.	.	.	.	.	.	.	.	G	11.83	1.755613	0.31046	.	.	ENSG00000136750	ENST00000376261;ENST00000259271;ENST00000428517	T;T;T	0.58940	0.3;0.3;0.3	5.84	1.63	0.23807	.	0.535497	0.20968	N	0.082460	T	0.42086	0.1187	L	0.43152	1.355	0.80722	D	1	B;B	0.09022	0.002;0.001	B;B	0.06405	0.002;0.002	T	0.15867	-1.0422	10	0.19590	T	0.45	-0.1071	6.7556	0.23512	0.2628:0.0:0.6186:0.1185	.	72;72	Q4G154;Q05329	.;DCE2_HUMAN	T	72	ENSP00000365437:A72T;ENSP00000259271:A72T;ENSP00000390434:A72T	ENSP00000259271:A72T	A	+	1	0	GAD2	26546854	0.982000	0.34865	1.000000	0.80357	0.200000	0.23975	1.718000	0.38001	0.814000	0.34374	0.561000	0.74099	GCC		0.692	GAD2-001	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047255.1	NM_000818		4	17	0	0	0	1	0	4	17					A	26506848	G	A	26506848	3	1	349	1	0	0	0	0	1	0	0	0	6180	1087	38	1	224	1	GAD2	10	26506848	Missense_Mutation	SNP	G	TCGA-KK-A8IM-01A-11D-A364-08		26506848	109027899	19	17613											
SORCS3	22986	broad.mit.edu	37	chr10	106937890	106937890	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcggttcctctctttgttgaCggggctctggtggaggcagg	3	13	16	9	2	2	1	0	1	2	0	5	2	3	2	1	7	0	4	1	7	0	3	rs372850065		TCGA-KK-A8IM-01A-11D-A364-08	TCGA-KK-A8IM-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8a17b3d-a5f6-48e8-b161-b9b6a528c3e6	ec655621-f470-4bca-ad72-e570cd3c3a42	g.chr10:106937890C>T	ENST00000369701.3	+	14	2195	c.1968C>T	c.(1966-1968)gaC>gaT	p.D656D	SORCS3_ENST00000369699.4_Intron	NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	656					learning (GO:0007612)|memory (GO:0007613)|neuropeptide signaling pathway (GO:0007218)|regulation of long term synaptic depression (GO:1900452)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|neuronal postsynaptic density (GO:0097481)	neuropeptide receptor activity (GO:0008188)	p.D656D(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		TCTTTGTTGACGGGGCTCTGG	0.473																																					NSCLC(116;1497 1690 7108 13108 14106)	ENST00000369701.3																			1	Substitution - coding silent(1)	p.D656D(1)	large_intestine(1)	autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131						c.(1966-1968)gaC>gaT		sortilin-related VPS10 domain containing receptor 3		C		0,4406		0,0,2203	209	178	189		1968	-7.2	0.1	10		189	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	SORCS3	NM_014978.1		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		656/1223	106937890	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	22986					integral to membrane	neuropeptide receptor activity	g.chr10:106937890C>T	AB028982	CCDS7558.1	10q23-q25	2006-04-12			ENSG00000156395	ENSG00000156395			16699	protein-coding gene	gene with protein product		606285				11499680	Standard	NM_014978		Approved	KIAA1059, SORCS	uc001kyi.1	Q9UPU3	OTTHUMG00000019011	ENST00000369701.3:c.1968C>T	10.37:g.106937890C>T						SORCS3_ENST00000369699.4_Intron	p.D656D	NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)	14	2195	+		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)	656					Q5VXF9|Q9NQJ2	Silent	SNP	ENST00000369701.3	37	c.1968C>T	CCDS7558.1																																																																																				0.473	SORCS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050221.1	NM_014978		10	40	0	0	0	1	0	10	40					T	106937890	C	T	106937890	2	4	349	1	0	0	0	0	0	0	0	1	14932	535	19	1		1	SORCS3	10	106937890	Silent	SNP	C	TCGA-KK-A8IM-01A-11D-A364-08	80431042	106937890	28596857	20	17614											
CLP1	10978	broad.mit.edu	37	chr11	57428325	57428325	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ctgtgtcattaacacctgtgGctgggtcaagggctctggtt	6	13	13	9	0	3	0	2	0	1	0	3	0	3	0	1	4	1	3	1	4	2	2			TCGA-KK-A8IM-01A-11D-A364-08	TCGA-KK-A8IM-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8a17b3d-a5f6-48e8-b161-b9b6a528c3e6	ec655621-f470-4bca-ad72-e570cd3c3a42	g.chr11:57428325G>A	ENST00000302731.4	+	3	623	c.503G>A	c.(502-504)gGc>gAc	p.G168D	CLP1_ENST00000529430.1_Missense_Mutation_p.G243D|CLP1_ENST00000533682.1_Missense_Mutation_p.G232D|CLP1_ENST00000525602.1_Missense_Mutation_p.G232D	NM_001142597.1|NM_006831.2	NP_001136069.1|NP_006822.1	Q5KU26	COL12_HUMAN	cleavage and polyadenylation factor I subunit 1	0					carbohydrate mediated signaling (GO:0009756)|defense response (GO:0006952)|innate immune response (GO:0045087)|pattern recognition receptor signaling pathway (GO:0002221)|phagocytosis, recognition (GO:0006910)|protein homooligomerization (GO:0051260)|receptor-mediated endocytosis (GO:0006898)	collagen trimer (GO:0005581)|endocytic vesicle membrane (GO:0030666)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	galactose binding (GO:0005534)|low-density lipoprotein particle binding (GO:0030169)|metal ion binding (GO:0046872)|scavenger receptor activity (GO:0005044)|signaling pattern recognition receptor activity (GO:0008329)			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|stomach(1)	15						AACACCTGTGGCTGGGTCAAG	0.488																																						ENST00000533682.1																			0				autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|stomach(1)	15						c.(694-696)gGc>gAc		cleavage and polyadenylation factor I subunit 1							131	125	127					11																	57428325		2201	4296	6497	SO:0001583	missense	10978				mRNA 3'-end processing|nuclear mRNA splicing, via spliceosome|siRNA loading onto RISC involved in RNA interference|targeting of mRNA for destruction involved in RNA interference|termination of RNA polymerase II transcription|tRNA splicing, via endonucleolytic cleavage and ligation	nucleoplasm|tRNA-intron endonuclease complex	ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|ATP-dependent polyribonucleotide 5'-hydroxyl-kinase activity	g.chr11:57428325G>A	BC000446	CCDS7964.1, CCDS44600.1	11q12.1	2012-10-02	2012-10-02		ENSG00000172409	ENSG00000172409	2.7.1.78		16999	protein-coding gene	gene with protein product	"ATP/GTPbinding protein", "polyribonucleotide 5'-hydroxyl-kinase"	608757	"CLP1, cleavage and polyadenylation factor I subunit, homolog (S. cerevisiae)"			8896421, 11060040	Standard	NM_006831		Approved	HEAB, hClp1	uc001nkw.3	Q92989	OTTHUMG00000167146	ENST00000302731.4:c.503G>A	11.37:g.57428325G>A	ENSP00000304704:p.Gly168Asp					CLP1_ENST00000302731.4_Missense_Mutation_p.G168D|CLP1_ENST00000525602.1_Missense_Mutation_p.G232D|CLP1_ENST00000529430.1_Missense_Mutation_p.G243D	p.G232D			Q92989	CLP1_HUMAN			3	1420	+			232					Q6P9F2|Q8TCR2|Q8WZA4|Q9BY85|Q9BYH7	Missense_Mutation	SNP	ENST00000302731.4	37	c.695G>A	CCDS44600.1	.	.	.	.	.	.	.	.	.	.	g	29.7	5.026543	0.93518	.	.	ENSG00000172409	ENST00000529430;ENST00000533682;ENST00000525602;ENST00000302731	D;D;D;D	0.86497	-2.13;-2.13;-2.13;-2.13	5.88	5.88	0.94601	Pre-mRNA cleavage complex II Clp1 (1);	0.000000	0.85682	D	0.000000	D	0.94892	0.8349	M	0.88979	2.995	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.94948	0.8097	10	0.72032	D	0.01	-5.202	19.8569	0.96762	0.0:0.0:1.0:0.0	.	168;232	Q92989-2;Q92989	.;CLP1_HUMAN	D	243;232;232;168	ENSP00000433406:G243D;ENSP00000434995:G232D;ENSP00000436066:G232D;ENSP00000304704:G168D	ENSP00000304704:G168D	G	+	2	0	CLP1	57184901	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.728000	0.98792	2.804000	0.96469	0.645000	0.84053	GGC		0.488	CLP1-003	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000393465.1	NM_006831		16	92	0	0	0	1	0	16	92					A	57428325	G	A	57428325	3	1	349	1	0	0	0	0	1	0	0	0	3550	1203	42	3	701	3	CLP1	11	57428325	Missense_Mutation	SNP	G	TCGA-KK-A8IM-01A-11D-A364-08		57428325	77578191	21	17615											
SLC6A15	55117	broad.mit.edu	37	chr12	85255651	85255651	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttataggtcacagatgctaaAttaccagaactatcatctat	15	13	5	8	0	3	2	2	0	1	2	3	2	3	2	1	1	3	1	1	1	8	6			TCGA-KK-A8IM-01A-11D-A364-08	TCGA-KK-A8IM-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8a17b3d-a5f6-48e8-b161-b9b6a528c3e6	ec655621-f470-4bca-ad72-e570cd3c3a42	g.chr12:85255651A>T	ENST00000266682.5	-	12	2494	c.1953T>A	c.(1951-1953)aaT>aaA	p.N651K	SLC6A15_ENST00000309283.7_Intron|SLC6A15_ENST00000552192.1_Missense_Mutation_p.N544K	NM_182767.5	NP_877499.1	Q9H2J7	S6A15_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 15	651					amino acid transport (GO:0006865)|ion transport (GO:0006811)|leucine transport (GO:0015820)|neurotransmitter transport (GO:0006836)|neutral amino acid transport (GO:0015804)|proline transport (GO:0015824)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neurotransmitter transporter activity (GO:0005326)|neurotransmitter:sodium symporter activity (GO:0005328)|proline:sodium symporter activity (GO:0005298)			kidney(1)|large_intestine(18)|lung(15)|ovary(1)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	44						CAGATGCTAAATTACCAGAAC	0.443																																						ENST00000266682.5																			0				kidney(1)|large_intestine(18)|lung(15)|ovary(1)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	44						c.(1951-1953)aaT>aaA		solute carrier family 6 (neutral amino acid transporter), member 15							125	128	127					12																	85255651		2203	4300	6503	SO:0001583	missense	55117				cellular nitrogen compound metabolic process|leucine transport|proline transport	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity	g.chr12:85255651A>T	AF265577	CCDS9026.1, CCDS9027.1, CCDS53816.1	12q21.31	2013-07-15	2008-09-02		ENSG00000072041	ENSG00000072041		"Solute carriers"	13621	protein-coding gene	gene with protein product	"homolog of rat orphan transporter v7-3", "sodium/chloride dependent neurotransmitter transporter Homo sapiens orphan neurotransmitter transporter NTT7"	607971	"solute carrier family 6 (neurotransmitter transporter), member 15"			10471414, 11112352, 16185194	Standard	NM_182767		Approved	hv7-3, NTT73, FLJ10316, V7-3, SBAT1	uc001szv.4	Q9H2J7	OTTHUMG00000169742	ENST00000266682.5:c.1953T>A	12.37:g.85255651A>T	ENSP00000266682:p.Asn651Lys					SLC6A15_ENST00000309283.7_Intron|SLC6A15_ENST00000552192.1_Missense_Mutation_p.N544K	p.N651K	NM_182767.5	NP_877499.1	Q9H2J7	S6A15_HUMAN			12	2494	-			651					A8K592|B7Z2P7|E7ESJ5|Q9H9F5	Missense_Mutation	SNP	ENST00000266682.5	37	c.1953T>A	CCDS9026.1	.	.	.	.	.	.	.	.	.	.	A	9.149	1.015718	0.19355	.	.	ENSG00000072041	ENST00000266682;ENST00000552192;ENST00000548267	T;T	0.73789	-0.58;-0.78	5.99	-0.633	0.11519	.	0.534326	0.22680	N	0.056954	T	0.41511	0.1162	N	0.01874	-0.695	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.46582	-0.9181	10	0.02654	T	1	.	13.5947	0.61982	0.4622:0.0:0.5378:0.0	.	651	Q9H2J7	S6A15_HUMAN	K	651;544;129	ENSP00000266682:N651K;ENSP00000450145:N544K	ENSP00000266682:N651K	N	-	3	2	SLC6A15	83779782	0.993000	0.37304	0.992000	0.48379	0.914000	0.54420	0.372000	0.20467	-0.337000	0.08426	0.533000	0.62120	AAT		0.443	SLC6A15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405678.1	NM_018057, NM_182767		4	137	0	0	0	1	0	4	137					T	85255651	A	T	85255651	3	4	349	1	0	0	0	0	1	0	0	0	14678	98	4	5	243	5	SLC6A15	12	85255651	Missense_Mutation	SNP	A	TCGA-KK-A8IM-01A-11D-A364-08		85255651	48596244	22	17616											
C13orf37	440145	broad.mit.edu	37	chr13	73293170	73293170	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aattccttgttcacaaagccGtacacaaatagacagagttt	15	11	6	9	1	1	2	1	0	0	2	2	2	2	2	2	0	2	3	2	0	5	6	rs369419420		TCGA-KK-A8IM-01A-11D-A364-08	TCGA-KK-A8IM-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8a17b3d-a5f6-48e8-b161-b9b6a528c3e6	ec655621-f470-4bca-ad72-e570cd3c3a42	g.chr13:73293170G>A	ENST00000377818.3	-	2	229	c.145C>T	c.(145-147)Cgg>Tgg	p.R49W		NM_001071775.2	NP_001065243.1	Q08AG7	MZT1_HUMAN	mitotic spindle organizing protein 1	49					gamma-tubulin complex localization (GO:0033566)	centrosome (GO:0005813)|gamma-tubulin ring complex (GO:0008274)|spindle (GO:0005819)				endometrium(1)|kidney(1)|large_intestine(1)|lung(1)	4						TCACAAAGCCGTACACAAATA	0.353																																						ENST00000377818.3																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(1)	4						c.(145-147)Cgg>Tgg		mitotic spindle organizing protein 1		G	TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	99	103	102		145	5.7	1	13		102	0,8600		0,0,4300	no	missense	MZT1	NM_001071775.2	101	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	49/83	73293170	1,13005	2203	4300	6503	SO:0001583	missense	440145				gamma-tubulin complex localization	centrosome|gamma-tubulin ring complex|spindle	protein binding	g.chr13:73293170G>A		CCDS31990.1	13q22.1	2013-08-13	2010-07-22	2010-07-22	ENSG00000204899	ENSG00000204899			33830	protein-coding gene	gene with protein product	"mitotic-spindle organizing protein associated with a ring of gamma-tubulin 1"	613448	"chromosome 13 open reading frame 37"	C13orf37		20360068	Standard	NM_001071775		Approved	LOC440145, FLJ21869, MGC150539, RP11-11C5.2, MOZART1	uc001viu.2	Q08AG7	OTTHUMG00000017069	ENST00000377818.3:c.145C>T	13.37:g.73293170G>A	ENSP00000367049:p.Arg49Trp						p.R49W	NM_001071775.2	NP_001065243.1	Q08AG7	MZT1_HUMAN			2	229	-			49					Q5W0P5	Missense_Mutation	SNP	ENST00000377818.3	37	c.145C>T	CCDS31990.1	.	.	.	.	.	.	.	.	.	.	G	20.5	3.997302	0.74818	2.27E-4	0.0	ENSG00000204899	ENST00000377818	T	0.48836	0.8	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	T	0.68357	0.2992	.	.	.	0.58432	D	0.999994	D	0.89917	1.0	D	0.81914	0.995	T	0.71076	-0.4697	9	0.66056	D	0.02	-7.8554	13.3206	0.60430	0.0:0.0:0.7239:0.2761	.	49	Q08AG7	MZT1_HUMAN	W	49	ENSP00000367049:R49W	ENSP00000367049:R49W	R	-	1	2	MZT1	72191171	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.846000	0.55888	2.692000	0.91855	0.591000	0.81541	CGG		0.353	MZT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045249.1	NM_001071775		4	226	0	0	0	1	0	4	226					A	73293170	G	A	73293170	3	1	349	1	0	0	0	0	1	0	0	0	1731	1144	40	1	111	1	C13orf37	13	73293170	Missense_Mutation	SNP	G	TCGA-KK-A8IM-01A-11D-A364-08		73293170	41876708	23	17617											
BIVM	54841	broad.mit.edu	37	chr13	103468831	103468831	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cttcagataaaaagggaagaTatcagaaggaatgtcctcag	17	8	10	6	0	3	3	3	0	0	3	4	5	4	5	1	2	0	0	1	2	7	3			TCGA-KK-A8IM-01A-11D-A364-08	TCGA-KK-A8IM-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8a17b3d-a5f6-48e8-b161-b9b6a528c3e6	ec655621-f470-4bca-ad72-e570cd3c3a42	g.chr13:103468831T>G	ENST00000257336.1	+	4	1211	c.532T>G	c.(532-534)Tat>Gat	p.Y178D	BIVM-ERCC5_ENST00000602836.1_Missense_Mutation_p.I149R|BIVM_ENST00000448849.2_De_novo_Start_OutOfFrame|BIVM_ENST00000419638.1_Missense_Mutation_p.Y178D	NM_017693.3	NP_060163.2	Q86UB2	BIVM_HUMAN	basic, immunoglobulin-like variable motif containing	178						cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleus (GO:0005634)				endometrium(3)|kidney(2)|large_intestine(7)|lung(10)|skin(2)|urinary_tract(1)	25	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					AAAGGGAAGATATCAGAAGGA	0.328																																						ENST00000448849.2																			0				endometrium(3)|kidney(2)|large_intestine(7)|lung(10)|skin(2)|urinary_tract(1)	25								basic, immunoglobulin-like variable motif containing							105	103	103					13																	103468831		2203	4297	6500	SO:0001583	missense	54841							g.chr13:103468831T>G	AF411385	CCDS9505.1, CCDS53879.1	13q33.1	2008-05-14			ENSG00000134897	ENSG00000134897			16034	protein-coding gene	gene with protein product						12036287	Standard	NM_017693		Approved	FLJ20159		Q86UB2	OTTHUMG00000017309	ENST00000257336.1:c.532T>G	13.37:g.103468831T>G	ENSP00000257336:p.Tyr178Asp					BIVM_ENST00000257336.1_Missense_Mutation_p.Y178D|BIVM-ERCC5_ENST00000602836.1_Missense_Mutation_p.I149R|BIVM_ENST00000419638.1_Missense_Mutation_p.Y178D		NM_001159596.1	NP_001153068.1					0	527	+	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)							Q2M1J2|Q9NXM4	Translation_Start_Site	SNP	ENST00000257336.1	37		CCDS9505.1	.	.	.	.	.	.	.	.	.	.	T	12.33	1.905397	0.33628	.	.	ENSG00000134897;ENSG00000134897;ENSG00000134899	ENST00000257336;ENST00000419638;ENST00000418659	.	.	.	5.88	4.09	0.47781	.	0.591094	0.17752	N	0.163210	T	0.39118	0.1066	N	0.14661	0.345	0.80722	D	1	B;B	0.21520	0.057;0.002	B;B	0.18871	0.023;0.006	T	0.11567	-1.0582	9	0.35671	T	0.21	.	10.7974	0.46468	0.0:0.8413:0.0:0.1587	.	149;178	Q59FZ7;Q86UB2	.;BIVM_HUMAN	D	178;178;149	.	ENSP00000257336:Y178D	Y	+	1	0	ERCC5;BIVM	102266832	1.000000	0.71417	0.998000	0.56505	0.739000	0.42172	2.804000	0.47931	0.757000	0.33036	0.528000	0.53228	TAT		0.328	BIVM-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045704.2			9	54	0	0	0	1	0	9	54					G	103468831	T	G	103468831	3	3	349	1	0	0	0	0	1	0	0	0	1441	1406	49	5	538	5	BIVM	13	103468831	Missense_Mutation	SNP	T	TCGA-KK-A8IM-01A-11D-A364-08	30175661	103468831	11701047	24	17618											
RAD51L1	5890	broad.mit.edu	37	chr14	68353829	68353829	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tggtcagaaaggagtttgatGcacaacttcaaggcaatctc	13	10	10	8	0	3	2	2	1	1	1	4	3	3	3	0	3	2	3	0	3	4	2			TCGA-KK-A8IM-01A-11D-A364-08	TCGA-KK-A8IM-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8a17b3d-a5f6-48e8-b161-b9b6a528c3e6	ec655621-f470-4bca-ad72-e570cd3c3a42	g.chr14:68353829G>A	ENST00000487270.1	+	7	712	c.664G>A	c.(664-666)Gca>Aca	p.A222T	RAD51B_ENST00000390683.3_Missense_Mutation_p.A222T|RAD51B_ENST00000488612.1_Missense_Mutation_p.A222T|RAD51B_ENST00000487861.1_Missense_Mutation_p.A222T|RAD51B_ENST00000471583.1_Missense_Mutation_p.A222T	NM_133509.3	NP_598193.2	O15315	RA51B_HUMAN	RAD51 paralog B	222					ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|reciprocal meiotic recombination (GO:0007131)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Rad51B-Rad51C-Rad51D-XRCC2 complex (GO:0033063)|replication fork (GO:0005657)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|double-stranded DNA binding (GO:0003690)|single-stranded DNA binding (GO:0003697)		HMGA2/RAD51B(11)	breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	11						GGAGTTTGATGCACAACTTCA	0.373								Direct reversal of damage																														ENST00000487270.1																		HMGA2/RAD51B(11)	0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	11						c.(664-666)Gca>Aca	Direct reversal of damage	RAD51 paralog B							91	96	94					14																	68353829		2203	4300	6503	SO:0001583	missense	5890				blood coagulation|DNA repair|reciprocal meiotic recombination	nucleoplasm	ATP binding|DNA binding|DNA-dependent ATPase activity	g.chr14:68353829G>A	U84138	CCDS9789.1, CCDS9790.1	14q23-q24.2	2013-07-02	2013-07-02	2011-07-01	ENSG00000182185	ENSG00000182185			9822	protein-coding gene	gene with protein product		602948	"RAD51 (S. cerevisiae)-like 1", "RAD51-like 1 (S. cerevisiae)", "RAD51 homolog B (S. cerevisiae)"	RAD51L1		6261043, 9207106	Standard	NM_002877		Approved	REC2, hREC2, R51H2	uc001xkf.2	O15315	OTTHUMG00000157530	ENST00000487270.1:c.664G>A	14.37:g.68353829G>A	ENSP00000419471:p.Ala222Thr					RAD51B_ENST00000488612.1_Missense_Mutation_p.A222T|RAD51B_ENST00000487861.1_Missense_Mutation_p.A222T|RAD51B_ENST00000471583.1_Missense_Mutation_p.A222T|RAD51B_ENST00000390683.3_Missense_Mutation_p.A222T	p.A222T	NM_133509.3	NP_598193.2	O15315	RA51B_HUMAN			7	712	+			222					O60914|O75210|Q3Y4F8|Q6FHX8|Q86SY3|Q86SY4|Q86TR0|Q86U92|Q86U93|Q86U94|Q8N6H4|Q9UPL5	Missense_Mutation	SNP	ENST00000487270.1	37	c.664G>A	CCDS9789.1	.	.	.	.	.	.	.	.	.	.	G	9.072	0.997140	0.19043	.	.	ENSG00000182185	ENST00000487861;ENST00000471583;ENST00000487270;ENST00000488612;ENST00000390683;ENST00000402498;ENST00000342389	T;T;T;T;T	0.39406	1.08;1.08;1.08;1.08;1.08	5.9	2.21	0.28008	DNA recombination/repair protein RecA/RadB, ATP-binding domain (1);ATPase, AAA+ type, core (1);DNA recombination and repair protein Rad51, C-terminal (1);	0.218389	0.37178	N	0.002204	T	0.16599	0.0399	N	0.02802	-0.49	0.22199	N	0.9993	B;B;B;B;B;B	0.06786	0.0;0.001;0.0;0.0;0.0;0.0	B;B;B;B;B;B	0.08055	0.001;0.003;0.001;0.0;0.0;0.001	T	0.15925	-1.0420	10	0.35671	T	0.21	-29.5432	6.3174	0.21199	0.7231:0.1376:0.1393:0.0	.	222;222;222;222;222;222	C9JYJ0;C9JSP9;O15315-4;O15315;O15315-1;O15315-2	.;.;.;RA51B_HUMAN;.;.	T	222	ENSP00000419881:A222T;ENSP00000418859:A222T;ENSP00000419471:A222T;ENSP00000420061:A222T;ENSP00000375101:A222T	ENSP00000343531:A222T	A	+	1	0	RAD51B	67423582	1.000000	0.71417	0.996000	0.52242	0.995000	0.86356	3.179000	0.50887	0.130000	0.18549	-0.295000	0.09555	GCA		0.373	RAD51B-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000349063.1			12	74	0	0	0	1	0	12	74					A	68353829	G	A	68353829	3	1	349	1	0	0	0	0	1	0	0	0	12989	1319	46	3	686	3	RAD51L1	14	68353829	Missense_Mutation	SNP	G	TCGA-KK-A8IM-01A-11D-A364-08		68353829	38995711	25	17619											
RYR3	6263	broad.mit.edu	37	chr15	34102839	34102839	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgatctccctcgcaaaatcgCgatacagccatgtaagctgc	11	9	8	13	3	1	1	0	1	1	0	4	2	1	1	2	0	4	3	2	0	4	2			TCGA-KK-A8IM-01A-11D-A364-08	TCGA-KK-A8IM-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8a17b3d-a5f6-48e8-b161-b9b6a528c3e6	ec655621-f470-4bca-ad72-e570cd3c3a42	g.chr15:34102839C>T	ENST00000389232.4	+	71	10256	c.10186C>T	c.(10186-10188)Cga>Tga	p.R3396*	RYR3_ENST00000415757.3_Nonsense_Mutation_p.R3391*	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	3396					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		CGCAAAATCGCGATACAGCCA	0.547																																						ENST00000389232.4																			0				NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311						c.(10186-10188)Cga>Tga		ryanodine receptor 3							56	64	62					15																	34102839		2050	4199	6249	SO:0001587	stop_gained	6263				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr15:34102839C>T		CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"Ion channels / Ryanodine receptors", "EF-hand domain containing"	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.10186C>T	15.37:g.34102839C>T	ENSP00000373884:p.Arg3396*					RYR3_ENST00000415757.3_Nonsense_Mutation_p.R3391*	p.R3396*	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)	71	10256	+		all_lung(180;7.18e-09)	3396					O15175|Q15412	Nonsense_Mutation	SNP	ENST00000389232.4	37	c.10186C>T	CCDS45210.1	.	.	.	.	.	.	.	.	.	.	C	50	16.748490	0.99871	.	.	ENSG00000198838	ENST00000389232;ENST00000415757;ENST00000361728	.	.	.	5.15	4.17	0.49024	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.1243	0.59344	0.2203:0.7797:0.0:0.0	.	.	.	.	X	3396;3396;3391	.	ENSP00000354735:R3391X	R	+	1	2	RYR3	31890131	0.993000	0.37304	0.811000	0.32455	0.003000	0.03518	3.116000	0.50399	2.667000	0.90743	0.561000	0.74099	CGA		0.547	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1			8	43	0	0	0	1	0	8	43					T	34102839	C	T	34102839	4	4	349	1	0	0	0	0	0	1	0	0	13770	760	27	1	10468	1	RYR3	15	34102839	Nonsense_Mutation	SNP	C	TCGA-KK-A8IM-01A-11D-A364-08		34102839	68428553	26	17620											
CLCN7	1186	broad.mit.edu	37	chr16	1498382	1498382	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcatcggcatgctccaccaCggggaagccgttgtgattgg	7	9	14	11	3	1	1	1	1	0	0	3	2	2	2	3	4	2	3	3	4	1	2			TCGA-KK-A8IM-01A-11D-A364-08	TCGA-KK-A8IM-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8a17b3d-a5f6-48e8-b161-b9b6a528c3e6	ec655621-f470-4bca-ad72-e570cd3c3a42	g.chr16:1498382C>T	ENST00000382745.4	-	21	2592	c.1987G>A	c.(1987-1989)Gtg>Atg	p.V663M	CLCN7_ENST00000448525.1_Missense_Mutation_p.V639M|CLCN7_ENST00000262318.8_Missense_Mutation_p.V639M|LA16c-390E6.5_ENST00000566287.1_RNA	NM_001287.5	NP_001278.1	P51798	CLCN7_HUMAN	chloride channel, voltage-sensitive 7	663	CBS 1. {ECO:0000255|PROSITE- ProRule:PRU00703}.				chloride transmembrane transport (GO:1902476)|ion transmembrane transport (GO:0034220)|response to pH (GO:0009268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	antiporter activity (GO:0015297)|ATP binding (GO:0005524)|chloride channel activity (GO:0005254)|voltage-gated chloride channel activity (GO:0005247)			breast(2)|central_nervous_system(3)|endometrium(3)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|skin(2)	24		Hepatocellular(780;0.0893)				TGCTCCACCACGGGGAAGCCG	0.617																																						ENST00000382745.4																			0				breast(2)|central_nervous_system(3)|endometrium(3)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|skin(2)	24						c.(1987-1989)Gtg>Atg		chloride channel, voltage-sensitive 7							81	63	69					16																	1498382		2198	4298	6496	SO:0001583	missense	1186					integral to membrane|lysosomal membrane	antiporter activity|ATP binding|voltage-gated chloride channel activity	g.chr16:1498382C>T	Z67743	CCDS32361.1, CCDS45378.1	16p13	2012-09-26	2012-02-23		ENSG00000103249	ENSG00000103249		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "Ion channels / Chloride channels : Voltage-sensitive"	2025	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 63"	602727	"chloride channel 7"			8543009	Standard	NM_001114331		Approved	CLC-7, OPTA2, CLC7, ClC-7, PPP1R63	uc002clv.3	P51798	OTTHUMG00000044467	ENST00000382745.4:c.1987G>A	16.37:g.1498382C>T	ENSP00000372193:p.Val663Met					CLCN7_ENST00000262318.8_Missense_Mutation_p.V639M|CLCN7_ENST00000448525.1_Missense_Mutation_p.V639M	p.V663M	NM_001287.5	NP_001278.1	P51798	CLCN7_HUMAN			21	2592	-		Hepatocellular(780;0.0893)	663			CBS 1.		A6NEJ7|A8K5T9|A8K7X1|B3KPN3|E9PDB9|Q9NYX5	Missense_Mutation	SNP	ENST00000382745.4	37	c.1987G>A	CCDS32361.1	.	.	.	.	.	.	.	.	.	.	C	19.90	3.912541	0.72983	.	.	ENSG00000103249	ENST00000448525;ENST00000262318;ENST00000382745;ENST00000428756	D;D	0.98531	-4.98;-4.98	5.18	5.18	0.71444	Cystathionine beta-synthase, core (3);	0.000000	0.85682	D	0.000000	D	0.99227	0.9731	M	0.94021	3.485	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.995;0.997	D	0.99153	1.0859	10	0.87932	D	0	-39.9514	17.2353	0.86997	0.0:1.0:0.0:0.0	.	639;639;663;112	A8K7X1;E9PDB9;P51798;B3KUD9	.;.;CLCN7_HUMAN;.	M	639;616;663;605	ENSP00000410907:V639M;ENSP00000372193:V663M	ENSP00000262318:V616M	V	-	1	0	CLCN7	1438383	0.998000	0.40836	0.962000	0.40283	0.023000	0.10783	3.835000	0.55805	2.404000	0.81709	0.491000	0.48974	GTG		0.617	CLCN7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103598.2	NM_001287		6	25	0	0	0	1	0	6	25					T	1498382	C	T	1498382	3	4	349	1	0	0	0	0	1	0	0	0	3468	536	19	1	450	1	CLCN7	16	1498382	Missense_Mutation	SNP	C	TCGA-KK-A8IM-01A-11D-A364-08		1498382	88856371	27	17621											
TEX14	56155	broad.mit.edu	37	chr17	56700278	56700278	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gacccctctcatcgtggagtCgcaggtcacctcctgcatcc	6	9	9	17	2	2	0	2	0	1	0	7	2	4	1	5	2	1	2	5	2	0	0			TCGA-KK-A8IM-01A-11D-A364-08	TCGA-KK-A8IM-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8a17b3d-a5f6-48e8-b161-b9b6a528c3e6	ec655621-f470-4bca-ad72-e570cd3c3a42	g.chr17:56700278C>T	ENST00000240361.8	-	4	432	c.347G>A	c.(346-348)cGa>cAa	p.R116Q	TEX14_ENST00000349033.5_Missense_Mutation_p.R116Q|TEX14_ENST00000389934.3_Missense_Mutation_p.R116Q			Q8IWB6	TEX14_HUMAN	testis expressed 14	116					attachment of spindle microtubules to kinetochore (GO:0008608)|intercellular bridge organization (GO:0043063)|male meiosis (GO:0007140)|mitotic sister chromatid separation (GO:0051306)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of cytokinesis (GO:0032466)|negative regulation of protein binding (GO:0032091)	cell (GO:0005623)|cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|kinetochore (GO:0000776)|midbody (GO:0030496)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)			breast(6)|endometrium(5)|kidney(3)|large_intestine(22)|liver(1)|lung(24)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	81	Medulloblastoma(34;0.127)|all_neural(34;0.237)					ATCGTGGAGTCGCAGGTCACC	0.577																																						ENST00000389934.3																			0				breast(6)|endometrium(5)|kidney(3)|large_intestine(22)|liver(1)|lung(24)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	81						c.(346-348)cGa>cAa		testis expressed 14							110	79	89					17																	56700278		2203	4300	6503	SO:0001583	missense	56155					cytoplasm	ATP binding|protein kinase activity	g.chr17:56700278C>T	AF285601	CCDS32692.1, CCDS32693.1, CCDS56042.1	17q22	2013-09-20	2007-03-13		ENSG00000121101	ENSG00000121101			11737	protein-coding gene	gene with protein product	"cancer/testis antigen 113"	605792	"testis expressed sequence 14"			11279525, 12711554	Standard	NM_031272		Approved	CT113	uc010dcz.2	Q8IWB6	OTTHUMG00000179245	ENST00000240361.8:c.347G>A	17.37:g.56700278C>T	ENSP00000240361:p.Arg116Gln					TEX14_ENST00000349033.5_Missense_Mutation_p.R116Q|TEX14_ENST00000240361.8_Missense_Mutation_p.R116Q	p.R116Q	NM_001201457.1|NM_198393.3	NP_001188386.1|NP_938207.2	Q8IWB6	TEX14_HUMAN			4	464	-	Medulloblastoma(34;0.127)|all_neural(34;0.237)		116					A6NH19|Q7RTP3|Q8ND97|Q9BXT9	Missense_Mutation	SNP	ENST00000240361.8	37	c.347G>A	CCDS56042.1	.	.	.	.	.	.	.	.	.	.	C	32	5.127563	0.94473	.	.	ENSG00000121101	ENST00000240361;ENST00000389934;ENST00000349033	T;T;T	0.33865	1.39;1.39;1.39	5.12	5.12	0.69794	Ankyrin repeat-containing domain (4);	0.000000	0.64402	D	0.000020	T	0.47116	0.1428	N	0.17872	0.535	0.36324	D	0.858436	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;1.0	T	0.59118	-0.7514	10	0.87932	D	0	-18.1883	17.4838	0.87682	0.0:1.0:0.0:0.0	.	116;116;116	Q8IWB6;Q8IWB6-3;Q8IWB6-2	TEX14_HUMAN;.;.	Q	116	ENSP00000240361:R116Q;ENSP00000374584:R116Q;ENSP00000268910:R116Q	ENSP00000240361:R116Q	R	-	2	0	TEX14	54055277	1.000000	0.71417	0.990000	0.47175	0.847000	0.48162	5.718000	0.68455	2.538000	0.85594	0.655000	0.94253	CGA		0.577	TEX14-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000445446.1			12	43	0	0	0	1	0	12	43					T	56700278	C	T	56700278	3	4	349	1	0	0	0	0	1	0	0	0	15775	884	31	2	4248	2	TEX14	17	56700278	Missense_Mutation	SNP	C	TCGA-KK-A8IM-01A-11D-A364-08		56700278	24494932	28	17622											
SYDE1	85360	broad.mit.edu	37	chr19	15224479	15224479	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgaagtggtgactcggccccGcggtcgaggaggccccgaaa	8	4	16	13	6	0	1	0	1	0	0	2	5	0	2	4	5	0	0	4	5	2	0	rs370725981		TCGA-KK-A8IM-01A-11D-A364-08	TCGA-KK-A8IM-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8a17b3d-a5f6-48e8-b161-b9b6a528c3e6	ec655621-f470-4bca-ad72-e570cd3c3a42	g.chr19:15224479G>A	ENST00000342784.2	+	8	1944	c.1913G>A	c.(1912-1914)cGc>cAc	p.R638H	SYDE1_ENST00000600440.1_Missense_Mutation_p.R571H|SYDE1_ENST00000600252.1_Missense_Mutation_p.R295H	NM_033025.4	NP_149014.3	Q6ZW31	SYDE1_HUMAN	synapse defective 1, Rho GTPase, homolog 1 (C. elegans)	638					activation of Rho GTPase activity (GO:0032862)|positive regulation of synaptic transmission (GO:0050806)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|synaptic vesicle docking involved in exocytosis (GO:0016081)|synaptonemal complex assembly (GO:0007130)	cerebellar mossy fiber (GO:0044300)|cytosol (GO:0005829)|synaptic membrane (GO:0097060)	Rho GTPase activator activity (GO:0005100)			endometrium(4)|kidney(1)|large_intestine(7)|lung(2)|ovary(1)|pancreas(1)|skin(1)	17						ACTCGGCCCCGCGGTCGAGGA	0.682																																						ENST00000600252.1																			0				endometrium(4)|kidney(1)|large_intestine(7)|lung(2)|ovary(1)|pancreas(1)|skin(1)	17						c.(883-885)cGc>cAc		synapse defective 1, Rho GTPase, homolog 1 (C. elegans)							46	57	53					19																	15224479		2203	4298	6501	SO:0001583	missense	85360				activation of Rho GTPase activity|small GTPase mediated signal transduction	cytosol	Rho GTPase activator activity	g.chr19:15224479G>A	BC029926	CCDS12324.1, CCDS74299.1	19p13.12	2008-02-05				ENSG00000105137			25824	protein-coding gene	gene with protein product						12477932	Standard	XM_005260126		Approved	7h3, FLJ13511	uc002nah.1	Q6ZW31		ENST00000342784.2:c.1913G>A	19.37:g.15224479G>A	ENSP00000341489:p.Arg638His					SYDE1_ENST00000600440.1_Missense_Mutation_p.R571H|SYDE1_ENST00000342784.2_Missense_Mutation_p.R638H	p.R295H			Q6ZW31	SYDE1_HUMAN			5	2526	+			638					Q7L2I8|Q8N6J2|Q9H8K4	Missense_Mutation	SNP	ENST00000342784.2	37	c.884G>A	CCDS12324.1	.	.	.	.	.	.	.	.	.	.	G	18.52	3.640930	0.67244	.	.	ENSG00000105137	ENST00000342784	T	0.51325	0.71	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	T	0.69433	0.3110	M	0.79123	2.44	0.49483	D	0.999793	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.991;0.998;0.993	T	0.72975	-0.4128	10	0.87932	D	0	.	14.9343	0.70941	0.0:0.0:1.0:0.0	.	571;571;638	B2RD93;Q6ZW31-2;Q6ZW31	.;.;SYDE1_HUMAN	H	638	ENSP00000341489:R638H	ENSP00000341489:R638H	R	+	2	0	SYDE1	15085479	0.993000	0.37304	0.998000	0.56505	0.040000	0.13550	5.414000	0.66405	2.604000	0.88044	0.491000	0.48974	CGC		0.682	SYDE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465666.1	NM_033025		19	78	0	0	0	1	0	19	78					A	15224479	G	A	15224479	3	1	349	1	0	0	0	0	1	0	0	0	15432	1087	38	1	1943	1	SYDE1	19	15224479	Missense_Mutation	SNP	G	TCGA-KK-A8IM-01A-11D-A364-08		15224479	43904504	29	17623											
NCOA6	23054	broad.mit.edu	37	chr20	33345723	33345723	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgctgctgttgctgttgttgCtgctgctgctgctgctgctg	0	17	14	10	0	0	0	0	0	0	0	0	0	0	0	0	0	10	13	0	0	0	3	rs546356291	byFrequency	TCGA-KK-A8IM-01A-11D-A364-08	TCGA-KK-A8IM-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8a17b3d-a5f6-48e8-b161-b9b6a528c3e6	ec655621-f470-4bca-ad72-e570cd3c3a42	g.chr20:33345723C>T	ENST00000374796.2	-	8	3398	c.828G>A	c.(826-828)caG>caA	p.Q276Q	NCOA6_ENST00000359003.2_Silent_p.Q276Q			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	276	CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region.				brain development (GO:0007420)|cellular lipid metabolic process (GO:0044255)|cellular response to DNA damage stimulus (GO:0006974)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA-templated transcription, initiation (GO:0006352)|glucocorticoid receptor signaling pathway (GO:0042921)|heart development (GO:0007507)|intracellular estrogen receptor signaling pathway (GO:0030520)|labyrinthine layer blood vessel development (GO:0060716)|myeloid cell differentiation (GO:0030099)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|response to hormone (GO:0009725)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)	histone methyltransferase complex (GO:0035097)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|estrogen receptor binding (GO:0030331)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						gctgttgttgctgctgctgct	0.537													C|||	3	0.000599042	0	0	5008	,	,		18338	0.002		0	False		,,,				2504	0.001					ENST00000374796.2																			0				NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						c.(826-828)caG>caA		nuclear receptor coactivator 6							93	71	78					20																	33345723		2203	4300	6503	SO:0001819	synonymous_variant	23054				brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding	g.chr20:33345723C>T	AF128458	CCDS13241.1, CCDS74720.1	20q11	2008-08-01			ENSG00000198646	ENSG00000198646			15936	protein-coding gene	gene with protein product	"nuclear receptor coactivator RAP250", "activating signal cointegrator-2", "peroxisome proliferator-activated receptor interacting protein"	605299				8724849, 8263591	Standard	NM_014071		Approved	KIAA0181, RAP250, ASC2, AIB3, PRIP, TRBP, NRC	uc002xaw.3	Q14686	OTTHUMG00000032311	ENST00000374796.2:c.828G>A	20.37:g.33345723C>T						NCOA6_ENST00000359003.2_Silent_p.Q276Q	p.Q276Q			Q14686	NCOA6_HUMAN			8	3398	-			276			CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region.		A6NLF1|B2RMN5|E1P5P7|Q9NTZ9|Q9UH74|Q9UK86	Silent	SNP	ENST00000374796.2	37	c.828G>A	CCDS13241.1																																																																																				0.537	NCOA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078811.2	NM_014071		3	28	0	0	0	1	0	3	28					T	33345723	C	T	33345723	2	4	349	1	0	0	0	0	0	0	0	1	10233	796	28	3		3	NCOA6	20	33345723	Silent	SNP	C	TCGA-KK-A8IM-01A-11D-A364-08		33345723	29679797	30	17624											
DDX27	55661	broad.mit.edu	37	chr20	47855502	47855502	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tgagatgtcatcctcaaattCcgggacaagattgagaaaat	15	10	9	7	1	2	3	2	2	0	3	4	6	4	4	2	1	0	0	2	1	4	2			TCGA-KK-A8IM-01A-11D-A364-08	TCGA-KK-A8IM-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8a17b3d-a5f6-48e8-b161-b9b6a528c3e6	ec655621-f470-4bca-ad72-e570cd3c3a42	g.chr20:47855502C>A	ENST00000371764.4	+	15	1806	c.1797C>A	c.(1795-1797)ttC>ttA	p.F599L	ZNFX1_ENST00000371754.4_Silent_p.R1254R|DDX27_ENST00000484427.1_3'UTR|ZNFX1_ENST00000469991.1_5'UTR	NM_017895.7	NP_060365.7	Q96GQ7	DDX27_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 27	599	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.					nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	45			BRCA - Breast invasive adenocarcinoma(12;0.000899)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			TCCTCAAATTCCGGGACAAGA	0.488																																						ENST00000371764.4																			0				NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	45						c.(1795-1797)ttC>ttA		DEAD (Asp-Glu-Ala-Asp) box polypeptide 27							58	54	56					20																	47855502		2203	4300	6503	SO:0001583	missense	55661					nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding	g.chr20:47855502C>A	AL049766	CCDS13416.1	20q13.13	2010-07-06	2003-06-13		ENSG00000124228	ENSG00000124228		"DEAD-boxes"	15837	protein-coding gene	gene with protein product			"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 27"				Standard	NM_017895		Approved	dJ686N3.1, DRS1	uc002xuh.3	Q96GQ7	OTTHUMG00000033072	ENST00000371764.4:c.1797C>A	20.37:g.47855502C>A	ENSP00000360828:p.Phe599Leu					ZNFX1_ENST00000371754.4_Silent_p.R1254R|ZNFX1_ENST00000469991.1_5'UTR|DDX27_ENST00000484427.1_3'UTR	p.F599L	NM_017895.7	NP_060365.7	Q96GQ7	DDX27_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.000899)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		15	1806	+			599			Helicase C-terminal.		A0AVB6|B7ZLY1|Q5VXM7|Q8WYG4|Q969N7|Q96F57|Q96L97|Q9BWY9|Q9BXF0|Q9H990|Q9NWU3|Q9P0C2|Q9UGD6	Missense_Mutation	SNP	ENST00000371764.4	37	c.1797C>A	CCDS13416.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.106355	0.77096	.	.	ENSG00000124228	ENST00000371764	T	0.01446	4.88	5.23	2.12	0.27331	Helicase, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.01870	0.0059	N	0.16233	0.39	0.80722	D	1	P	0.47910	0.902	P	0.47402	0.546	T	0.66874	-0.5813	10	0.52906	T	0.07	-16.6675	8.2528	0.31737	0.0:0.7188:0.0:0.2812	.	599	Q96GQ7	DDX27_HUMAN	L	599	ENSP00000360828:F599L	ENSP00000360828:F599L	F	+	3	2	DDX27	47288909	0.998000	0.40836	0.933000	0.37362	0.908000	0.53690	0.581000	0.23819	0.169000	0.19679	0.655000	0.94253	TTC		0.488	DDX27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080485.1			3	47	1	0	1	1	1	3	47					A	47855502	C	A	47855502	3	1	349	1	0	0	0	0	1	0	0	0	4354	854	30	5	1855	5	DDX27	20	47855502	Missense_Mutation	SNP	C	TCGA-KK-A8IM-01A-11D-A364-08	14509779	47855502	15170018	31	17625											
KCNJ6	3763	broad.mit.edu	37	chr21	38997475	38997475	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agggcactaaactttggattCattctccaggtttgccacat	10	13	8	10	0	2	0	1	0	1	0	3	1	2	1	2	3	2	2	2	3	2	5			TCGA-KK-A8IM-01A-11D-A364-08	TCGA-KK-A8IM-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8a17b3d-a5f6-48e8-b161-b9b6a528c3e6	ec655621-f470-4bca-ad72-e570cd3c3a42	g.chr21:38997475C>A	ENST00000609713.1	-	4	1847	c.1258G>T	c.(1258-1260)Gaa>Taa	p.E420*	KCNJ6_ENST00000288309.6_Nonsense_Mutation_p.E420*	NM_002240.3	NP_002231.1	P48051	KCNJ6_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 6	420					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	G-protein activated inward rectifier potassium channel activity (GO:0015467)|inward rectifier potassium channel activity (GO:0005242)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	22					Halothane(DB01159)	ACTTTGGATTCATTCTCCAGG	0.448																																					Pancreas(48;379 1118 2936 19024 28214)	ENST00000400482.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	22						c.(1258-1260)Gaa>Taa		potassium inwardly-rectifying channel, subfamily J, member 6	Halothane(DB01159)						205	194	198					21																	38997475		1891	4118	6009	SO:0001587	stop_gained	3763				synaptic transmission	Golgi apparatus|voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding	g.chr21:38997475C>A	U24660	CCDS42927.1	21q22.1	2011-07-05			ENSG00000157542	ENSG00000157542		"Potassium channels", "Voltage-gated ion channels / Potassium channels, Inwardly rectifying"	6267	protein-coding gene	gene with protein product		600877		KCNJ7		7796919, 16382105	Standard	NM_002240		Approved	Kir3.2, GIRK2, KATP2, BIR1, hiGIRK2	uc002ywo.3	P48051	OTTHUMG00000086667	ENST00000609713.1:c.1258G>T	21.37:g.38997475C>A	ENSP00000477437:p.Glu420*					KCNJ6_ENST00000288309.6_Nonsense_Mutation_p.E420*	p.E420*	NM_002240.3	NP_002231.1	P48051	IRK6_HUMAN			4	1847	-			420					Q3MJ74|Q53WW6	Nonsense_Mutation	SNP	ENST00000609713.1	37	c.1258G>T	CCDS42927.1	.	.	.	.	.	.	.	.	.	.	C	40	8.204159	0.98704	.	.	ENSG00000157542	ENST00000400482;ENST00000288309	.	.	.	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.44643	D	0.997623	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	.	19.9915	0.97366	0.0:1.0:0.0:0.0	.	.	.	.	X	420	.	ENSP00000288309:E420X	E	-	1	0	KCNJ6	37919345	1.000000	0.71417	0.996000	0.52242	0.856000	0.48823	7.487000	0.81328	2.723000	0.93209	0.655000	0.94253	GAA		0.448	KCNJ6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194828.2	NM_002240		23	152	1	0	6.21321e-17	1	6.48335e-17	23	152					A	38997475	C	A	38997475	4	1	349	1	0	0	0	0	0	1	0	0	8055	835	29	5	17	5	KCNJ6	21	38997475	Nonsense_Mutation	SNP	C	TCGA-KK-A8IM-01A-11D-A364-08		38997475	9132420	32	17626											
BCORL1	63035	broad.mit.edu	37	chrX	129155027	129155027	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	caggggggcttcagattcagGaaaagagcacaatggagtca	14	6	14	7	0	3	2	3	0	0	2	3	4	3	4	0	5	1	2	0	5	3	2			TCGA-KK-A8IM-01A-11D-A364-08	TCGA-KK-A8IM-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8a17b3d-a5f6-48e8-b161-b9b6a528c3e6	ec655621-f470-4bca-ad72-e570cd3c3a42	g.chrX:129155027G>C	ENST00000218147.7	+	5	3706	c.3509G>C	c.(3508-3510)gGa>gCa	p.G1170A	BCORL1_ENST00000540052.1_Missense_Mutation_p.G1170A|BCORL1_ENST00000303743.5_Missense_Mutation_p.G1170A|BCORL1_ENST00000359304.2_Missense_Mutation_p.G1170A			Q5H9F3	BCORL_HUMAN	BCL6 corepressor-like 1	1170					chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						TCAGATTCAGGAAAAGAGCAC	0.587																																						ENST00000540052.1																			0				breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						c.(3508-3510)gGa>gCa		BCL6 corepressor-like 1							32	35	34					X																	129155027		2203	4299	6502	SO:0001583	missense	63035				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus		g.chrX:129155027G>C	AL136450	CCDS14616.1	Xq25-q26.1	2014-09-17	2010-06-10		ENSG00000085185	ENSG00000085185		"Ankyrin repeat domain containing"	25657	protein-coding gene	gene with protein product		300688	"chromosome X open reading frame 10", "BCL6 co-repressor-like 1"	CXorf10			Standard	NM_021946		Approved	FLJ11362	uc022cdu.1	Q5H9F3	OTTHUMG00000022379	ENST00000218147.7:c.3509G>C	X.37:g.129155027G>C	ENSP00000218147:p.Gly1170Ala					BCORL1_ENST00000303743.5_Missense_Mutation_p.G1170A|BCORL1_ENST00000359304.2_Missense_Mutation_p.G1170A|BCORL1_ENST00000218147.7_Missense_Mutation_p.G1170A	p.G1170A	NM_021946.4	NP_068765.3	Q5H9F3	BCORL_HUMAN			4	3553	+			1170					B5MDQ8|Q5H9F2|Q5H9F4|Q6ZVE0|Q8TEN3|Q9Y528	Missense_Mutation	SNP	ENST00000218147.7	37	c.3509G>C	CCDS14616.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.83|15.83	2.948791|2.948791	0.53186|0.53186	.|.	.|.	ENSG00000085185|ENSG00000085185	ENST00000218147;ENST00000303743;ENST00000359304;ENST00000540052;ENST00000456822|ENST00000441294	T;T;T;T;T|.	0.40476|.	1.09;1.45;1.03;1.09;1.51|.	6.04|6.04	5.18|5.18	0.71444|0.71444	.|.	0.000000|.	0.35838|.	N|.	0.002954|.	T|T	0.32912|0.32912	0.0845|0.0845	L|L	0.27053|0.27053	0.805|0.805	0.25426|0.25426	N|N	0.988223|0.988223	D;P|.	0.60575|.	0.988;0.905|.	P;B|.	0.56612|.	0.802;0.444|.	T|T	0.21621|0.21621	-1.0240|-1.0240	10|5	0.05525|.	T|.	0.97|.	-1.9919|-1.9919	8.8247|8.8247	0.35047|0.35047	0.0:0.1333:0.5528:0.3138|0.0:0.1333:0.5528:0.3138	.|.	1170;1170|.	Q5H9F3-2;Q5H9F3|.	.;BCORL_HUMAN|.	A|S	1170;1170;1170;1170;770|605	ENSP00000218147:G1170A;ENSP00000307541:G1170A;ENSP00000352253:G1170A;ENSP00000437775:G1170A;ENSP00000399483:G770A|.	ENSP00000218147:G1170A|.	G|R	+|+	2|3	0|2	BCORL1|BCORL1	128982708|128982708	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.971000|0.971000	0.66376|0.66376	0.910000|0.910000	0.28571|0.28571	1.283000|1.283000	0.44513|0.44513	0.513000|0.513000	0.50165|0.50165	GGA|AGG		0.587	BCORL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058223.1	NM_021946		3	12	0	0	0	1	0	3	12					C	129155027	G	C	129155027	3	2	349	1	0	0	0	0	1	0	0	0	1387	1174	41	5	3523	5	BCORL1	23	129155027	Missense_Mutation	SNP	G	TCGA-KK-A8IM-01A-11D-A364-08		129155027	26115533	33	17627											
COL11A1	1301	broad.mit.edu	37	chr1	103428308	103428308	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctattggaccagtctcaccGgttggtccctaaattagata	10	12	8	11	1	1	1	1	0	1	1	3	2	2	2	4	3	0	1	4	3	5	6	rs369136682		TCGA-M7-A71Y-01A-22D-A32B-08	TCGA-M7-A71Y-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99d703ae-a5d1-4dd9-a97a-8122c6a58b25	38ab93fd-6d00-4329-92f0-ca4d05d80a11	g.chr1:103428308G>A	ENST00000370096.3	-	39	3237	c.2925C>T	c.(2923-2925)acC>acT	p.T975T	COL11A1_ENST00000353414.4_Silent_p.T936T|COL11A1_ENST00000512756.1_Silent_p.T859T|COL11A1_ENST00000358392.2_Silent_p.T987T	NM_001854.3	NP_001845.3	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	975	Triple-helical region.				cartilage condensation (GO:0001502)|chondrocyte development (GO:0002063)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|embryonic skeletal system morphogenesis (GO:0048704)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|proteoglycan metabolic process (GO:0006029)|sensory perception of sound (GO:0007605)|tendon development (GO:0035989)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visual perception (GO:0007601)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		CAGTCTCACCGGTTGGTCCCT	0.438																																						ENST00000358392.2																			0				NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258						c.(2959-2961)acC>acT		collagen, type XI, alpha 1		G	,,,	0,4406		0,0,2203	77	75	75		2808,2925,2961,2577	1.8	1	1		75	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	COL11A1	NM_001190709.1,NM_001854.3,NM_080629.2,NM_080630.3	,,,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,,,	936/1768,975/1807,987/1819,859/1691	103428308	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	1301				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging	g.chr1:103428308G>A	J04177	CCDS778.1, CCDS780.1, CCDS780.2, CCDS53348.1	1p21	2013-01-16			ENSG00000060718	ENSG00000060718		"Collagens"	2186	protein-coding gene	gene with protein product	"collagen XI, alpha-1 polypeptide"	120280		COLL6		3182841	Standard	NM_080630		Approved	STL2, CO11A1	uc001dul.3	P12107	OTTHUMG00000010872	ENST00000370096.3:c.2925C>T	1.37:g.103428308G>A						COL11A1_ENST00000512756.1_Silent_p.T859T|COL11A1_ENST00000370096.3_Silent_p.T975T|COL11A1_ENST00000353414.4_Silent_p.T936T	p.T987T	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)	39	3278	-		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)	975			Triple-helical region.		B1ASK7|D3DT73|E9PCU0|Q14034|Q149N0|Q9UIT4|Q9UIT5|Q9UIT6	Silent	SNP	ENST00000370096.3	37	c.2961C>T	CCDS778.1																																																																																				0.438	COL11A1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000029997.1	NM_080630		10	62	0	0	0	1	0	10	62					A	103428308	G	A	103428308	2	1	350	1	0	0	0	0	0	0	0	1	3667	1103	39	2		2	COL11A1	1	103428308	Silent	SNP	G	TCGA-M7-A71Y-01A-22D-A32B-08		103428308	145822313	1	17628											
NES	10763	broad.mit.edu	37	chr1	156642067	156642067	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctctagattaccttcaagaGatttcattagttcttgattc	10	18	5	8	0	4	3	2	1	2	2	6	4	4	3	1	0	1	1	1	0	4	8	rs148672848		TCGA-M7-A71Y-01A-22D-A32B-08	TCGA-M7-A71Y-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99d703ae-a5d1-4dd9-a97a-8122c6a58b25	38ab93fd-6d00-4329-92f0-ca4d05d80a11	g.chr1:156642067G>T	ENST00000368223.3	-	4	2045	c.1913C>A	c.(1912-1914)tCt>tAt	p.S638Y		NM_006617.1	NP_006608.1	P48681	NEST_HUMAN	nestin	638	Tail.				brain development (GO:0007420)|cell projection morphogenesis (GO:0048858)|central nervous system development (GO:0007417)|embryonic camera-type eye development (GO:0031076)|G2/M transition of mitotic cell cycle (GO:0000086)|negative regulation of catalytic activity (GO:0043086)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of protein binding (GO:0032091)|positive regulation of intermediate filament depolymerization (GO:0030844)|positive regulation of neural precursor cell proliferation (GO:2000179)|stem cell proliferation (GO:0072089)	cytoplasm (GO:0005737)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)	intermediate filament binding (GO:0019215)|structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4)	64	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					ACCTTCAAGAGATTTCATTAG	0.393																																						ENST00000368223.3																			0				central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4)	64						c.(1912-1914)tCt>tAt		nestin							74	75	74					1																	156642067		2203	4300	6503	SO:0001583	missense	10763				brain development|embryonic camera-type eye development|G2/M transition of mitotic cell cycle|negative regulation of apoptosis|positive regulation of intermediate filament depolymerization|positive regulation of neural precursor cell proliferation|stem cell proliferation	cytoplasm|intermediate filament	intermediate filament binding|structural molecule activity	g.chr1:156642067G>T	X65964	CCDS1151.1	1q23	2013-01-16			ENSG00000132688	ENSG00000132688		"Intermediate filaments type IV"	7756	protein-coding gene	gene with protein product		600915				1478958, 9104587	Standard	NM_006617		Approved	FLJ21841	uc001fpq.3	P48681	OTTHUMG00000034299	ENST00000368223.3:c.1913C>A	1.37:g.156642067G>T	ENSP00000357206:p.Ser638Tyr						p.S638Y	NM_006617.1	NP_006608.1	P48681	NEST_HUMAN			4	2045	-	all_hematologic(923;0.088)|Hepatocellular(266;0.158)		638			Tail.		O00552|Q3LIF5|Q5SYZ6	Missense_Mutation	SNP	ENST00000368223.3	37	c.1913C>A	CCDS1151.1	.	.	.	.	.	.	.	.	.	.	G	19.08	3.757682	0.69648	.	.	ENSG00000132688	ENST00000368223	D	0.87966	-2.32	4.87	2.68	0.31781	.	0.000000	0.32328	N	0.006256	T	0.81692	0.4876	M	0.76328	2.33	0.09310	N	0.999999	D	0.56968	0.978	P	0.52267	0.694	T	0.74711	-0.3573	10	0.48119	T	0.1	.	2.1467	0.03789	0.1141:0.1964:0.4855:0.2039	.	638	P48681	NEST_HUMAN	Y	638	ENSP00000357206:S638Y	ENSP00000357206:S638Y	S	-	2	0	NES	154908691	0.002000	0.14202	0.304000	0.25085	0.596000	0.36781	0.447000	0.21710	2.254000	0.74563	0.467000	0.42956	TCT		0.393	NES-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000082844.2	NM_006617		4	75	1	0	0.00909568	1	0.0095744	4	75					T	156642067	G	T	156642067	3	4	350	1	0	0	0	0	1	0	0	0	10337	942	33	5	2956	5	NES	1	156642067	Missense_Mutation	SNP	G	TCGA-M7-A71Y-01A-22D-A32B-08	53213759	156642067	92608554	2	17629											
ALLC	55821	broad.mit.edu	37	chr2	3744989	3744989	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gttgtgaatgggcagttttcCgattggcacatcctggagta	8	13	13	7	1	0	1	0	1	0	0	2	3	2	2	2	3	0	5	2	3	2	5	rs201366958	byFrequency	TCGA-M7-A71Y-01A-22D-A32B-08	TCGA-M7-A71Y-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99d703ae-a5d1-4dd9-a97a-8122c6a58b25	38ab93fd-6d00-4329-92f0-ca4d05d80a11	g.chr2:3744989C>T	ENST00000252505.3	+	10	955	c.793C>T	c.(793-795)Cga>Tga	p.R265*	ALLC_ENST00000471711.1_3'UTR	NM_018436.3	NP_060906.3	Q8N6M5	ALLC_HUMAN	allantoicase	284					allantoin catabolic process (GO:0000256)		allantoicase activity (GO:0004037)	p.R265*(1)		breast(4)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	30	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.088)	all_cancers(51;0.24)		OV - Ovarian serous cystadenocarcinoma(76;0.088)|all cancers(51;0.151)|Epithelial(75;0.206)		GGCAGTTTTCCGATTGGCACA	0.373										HNSCC(21;0.051)			C|||	3	0.000599042	0.0023	0	5008	,	,		19046	0		0	False		,,,				2504	0					ENST00000252505.3																			1	Substitution - Nonsense(1)	p.R265*(1)	lung(1)	breast(4)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	30						c.(793-795)Cga>Tga		allantoicase		C	stop/ARG	3,3715		0,3,1856	156	153	154		793	3.5	1	2		154	0,8194		0,0,4097	yes	stop-gained	ALLC	NM_018436.3		0,3,5953	TT,TC,CC		0.0,0.0807,0.0252		265/392	3744989	3,11909	1859	4097	5956	SO:0001587	stop_gained	55821						allantoicase activity	g.chr2:3744989C>T	AF215924	CCDS46223.1	2p25.3	2008-02-05			ENSG00000151360	ENSG00000151360			17377	protein-coding gene	gene with protein product		612396				11054555	Standard	NM_018436		Approved	ALC	uc010ewt.3	Q8N6M5	OTTHUMG00000151485	ENST00000252505.3:c.793C>T	2.37:g.3744989C>T	ENSP00000252505:p.Arg265*	HNSCC(21;0.051)				ALLC_ENST00000471711.1_3'UTR	p.R265*	NM_018436.3	NP_060906.3	Q8N6M5	ALLC_HUMAN		OV - Ovarian serous cystadenocarcinoma(76;0.088)|all cancers(51;0.151)|Epithelial(75;0.206)	10	955	+	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.088)	all_cancers(51;0.24)	284					Q53T95|Q5RL81|Q96RE6|Q9NZA7	Nonsense_Mutation	SNP	ENST00000252505.3	37	c.793C>T	CCDS46223.1	.	.	.	.	.	.	.	.	.	.	C	36	5.970377	0.97156	8.07E-4	0.0	ENSG00000151360	ENST00000252505	.	.	.	5.47	3.47	0.39725	.	0.124148	0.49916	D	0.000127	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-12.8632	7.3795	0.26847	0.2399:0.668:0.0:0.0921	.	.	.	.	X	265	.	ENSP00000252505:R265X	R	+	1	2	ALLC	3722864	1.000000	0.71417	0.993000	0.49108	0.631000	0.37964	1.582000	0.36568	1.302000	0.44855	0.563000	0.77884	CGA		0.373	ALLC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322855.1			8	116	0	0	0	1	0	8	116					T	3744989	C	T	3744989	4	4	350	1	0	0	0	0	0	1	0	0	534	644	23	2	827	2	ALLC	2	3744989	Nonsense_Mutation	SNP	C	TCGA-M7-A71Y-01A-22D-A32B-08		3744989	239454384	3	17630											
DNER	92737	broad.mit.edu	37	chr2	230272041	230272041	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacgttagcgcagggatcctTgtacaattcacagtgtgttc	9	12	11	9	2	1	0	1	0	0	0	3	2	2	1	1	1	2	4	1	1	3	5			TCGA-M7-A71Y-01A-22D-A32B-08	TCGA-M7-A71Y-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99d703ae-a5d1-4dd9-a97a-8122c6a58b25	38ab93fd-6d00-4329-92f0-ca4d05d80a11	g.chr2:230272041T>G	ENST00000341772.4	-	10	1764	c.1630A>C	c.(1630-1632)Aag>Cag	p.K544Q		NM_139072.3	NP_620711.3	Q8NFT8	DNER_HUMAN	delta/notch-like EGF repeat containing	544	EGF-like 9. {ECO:0000255|PROSITE- ProRule:PRU00076}.				central nervous system development (GO:0007417)|endocytosis (GO:0006897)|glial cell differentiation (GO:0010001)|neuron migration (GO:0001764)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|skeletal muscle fiber development (GO:0048741)|synapse assembly (GO:0007416)	dendrite (GO:0030425)|early endosome (GO:0005769)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|clathrin binding (GO:0030276)|transmembrane signaling receptor activity (GO:0004888)			NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	63		all_lung(227;0.00413)|Renal(207;0.0113)|Lung NSC(271;0.0211)|all_hematologic(139;0.105)|Acute lymphoblastic leukemia(138;0.175)		Epithelial(121;1.4e-11)|all cancers(144;7.7e-09)|LUSC - Lung squamous cell carcinoma(224;0.034)|Lung(119;0.0375)		CAGGGATCCTTGTACAATTCA	0.542																																						ENST00000341772.4																			0				NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	63						c.(1630-1632)Aag>Cag		delta/notch-like EGF repeat containing							115	97	103					2																	230272041		2203	4300	6503	SO:0001583	missense	92737				central nervous system development|endocytosis|neuron migration|Notch signaling pathway|synapse assembly	dendrite|early endosome|integral to membrane|plasma membrane	calcium ion binding|clathrin binding|transmembrane receptor activity	g.chr2:230272041T>G	AY358891	CCDS33390.1	2q36.3	2006-10-26			ENSG00000187957	ENSG00000187957			24456	protein-coding gene	gene with protein product		607299				11950833, 11997712	Standard	NM_139072		Approved	UNQ26, bet	uc002vpv.3	Q8NFT8	OTTHUMG00000153637	ENST00000341772.4:c.1630A>C	2.37:g.230272041T>G	ENSP00000345229:p.Lys544Gln						p.K544Q	NM_139072.3	NP_620711.3	Q8NFT8	DNER_HUMAN		Epithelial(121;1.4e-11)|all cancers(144;7.7e-09)|LUSC - Lung squamous cell carcinoma(224;0.034)|Lung(119;0.0375)	10	1764	-		all_lung(227;0.00413)|Renal(207;0.0113)|Lung NSC(271;0.0211)|all_hematologic(139;0.105)|Acute lymphoblastic leukemia(138;0.175)	544			EGF-like 9.		A6NP39|Q53R88|Q53TP7|Q53TQ5|Q8IYT0|Q8TB42|Q9NTF1|Q9UDM2	Missense_Mutation	SNP	ENST00000341772.4	37	c.1630A>C	CCDS33390.1	.	.	.	.	.	.	.	.	.	.	T	14.43	2.533049	0.45073	.	.	ENSG00000187957	ENST00000341772;ENST00000543700	D	0.87256	-2.23	5.6	5.6	0.85130	Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	D	0.000000	T	0.82125	0.4969	L	0.33485	1.01	0.58432	D	0.99999	P	0.38020	0.615	B	0.37091	0.241	D	0.83964	0.0323	10	0.66056	D	0.02	.	14.7645	0.69629	0.0:0.0:0.0:1.0	.	544	Q8NFT8	DNER_HUMAN	Q	544;262	ENSP00000345229:K544Q	ENSP00000345229:K544Q	K	-	1	0	DNER	229980285	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	4.209000	0.58493	2.135000	0.66039	0.460000	0.39030	AAG		0.542	DNER-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331902.1	NM_139072		4	69	0	0	0	1	0	4	69					G	230272041	T	G	230272041	3	3	350	1	0	0	0	0	1	0	0	0	4667	1821	63	5	599	5	DNER	2	230272041	Missense_Mutation	SNP	T	TCGA-M7-A71Y-01A-22D-A32B-08	226527052	230272041	12927332	4	17631											
ZNF502	91392	broad.mit.edu	37	chr3	44762573	44762573	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggttttgggagaataactttCatccacaaagaagcaccccc	13	9	8	11	0	1	2	1	0	0	2	2	3	2	2	3	2	2	2	3	2	4	4			TCGA-M7-A71Y-01A-22D-A32B-08	TCGA-M7-A71Y-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99d703ae-a5d1-4dd9-a97a-8122c6a58b25	38ab93fd-6d00-4329-92f0-ca4d05d80a11	g.chr3:44762573C>A	ENST00000296091.4	+	4	520	c.264C>A	c.(262-264)ttC>ttA	p.F88L	ZNF502_ENST00000449836.1_Missense_Mutation_p.F88L|ZNF502_ENST00000436624.2_Missense_Mutation_p.F88L	NM_001134440.1|NM_001282880.1|NM_033210.4	NP_001127912.1|NP_001269809.1|NP_149987.2	Q8TBZ5	ZN502_HUMAN	zinc finger protein 502	88					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|endometrium(4)|large_intestine(8)|lung(4)|prostate(1)|urinary_tract(1)	19				BRCA - Breast invasive adenocarcinoma(193;0.00855)|KIRC - Kidney renal clear cell carcinoma(197;0.0471)|Kidney(197;0.0589)		GAATAACTTTCATCCACAAAG	0.403																																						ENST00000296091.4																			0				NS(1)|endometrium(4)|large_intestine(8)|lung(4)|prostate(1)|urinary_tract(1)	19						c.(262-264)ttC>ttA		zinc finger protein 502							62	63	63					3																	44762573		2202	4300	6502	SO:0001583	missense	91392				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr3:44762573C>A	AK022577	CCDS2719.1	3p21.32	2013-01-08			ENSG00000196653	ENSG00000196653		"Zinc fingers, C2H2-type"	23718	protein-coding gene	gene with protein product							Standard	NM_033210		Approved	FLJ14855, FLJ12515	uc003cnt.3	Q8TBZ5	OTTHUMG00000133086	ENST00000296091.4:c.264C>A	3.37:g.44762573C>A	ENSP00000296091:p.Phe88Leu					ZNF502_ENST00000449836.1_Missense_Mutation_p.F88L|ZNF502_ENST00000436624.2_Missense_Mutation_p.F88L	p.F88L	NM_001134440.1|NM_033210.4	NP_001127912.1|NP_149987.2	Q8TBZ5	ZN502_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00855)|KIRC - Kidney renal clear cell carcinoma(197;0.0471)|Kidney(197;0.0589)	4	520	+			88						Missense_Mutation	SNP	ENST00000296091.4	37	c.264C>A	CCDS2719.1	.	.	.	.	.	.	.	.	.	.	C	2.164	-0.391452	0.04932	.	.	ENSG00000196653	ENST00000449836;ENST00000296091;ENST00000436624;ENST00000427783;ENST00000411443	T;T;T;T	0.41400	3.5;3.5;3.5;1.0	5.0	-2.76	0.05896	.	.	.	.	.	T	0.16685	0.0401	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.29518	-1.0009	9	0.10377	T	0.69	-1.0404	5.9426	0.19201	0.0:0.2533:0.2556:0.491	.	88	Q8TBZ5	ZN502_HUMAN	L	88	ENSP00000397390:F88L;ENSP00000296091:F88L;ENSP00000406469:F88L;ENSP00000401717:F88L	ENSP00000296091:F88L	F	+	3	2	ZNF502	44737577	0.000000	0.05858	0.017000	0.16124	0.153000	0.21895	-2.353000	0.01090	-0.864000	0.04078	-0.882000	0.02950	TTC		0.403	ZNF502-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256744.4	NM_033210		4	74	1	0	0.00909568	1	0.0095744	4	74					A	44762573	C	A	44762573	3	1	350	1	0	0	0	0	1	0	0	0	17947	825	29	5	270	5	ZNF502	3	44762573	Missense_Mutation	SNP	C	TCGA-M7-A71Y-01A-22D-A32B-08		44762573	153259857	5	17632											
CCNL1	57018	broad.mit.edu	37	chr3	156866322	156866322	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ggctttcactgtgactgcggGacctgcttcttgatctcgag	5	13	12	11	2	3	2	1	2	2	0	4	4	3	3	1	2	2	2	1	2	0	3			TCGA-M7-A71Y-01A-22D-A32B-08	TCGA-M7-A71Y-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99d703ae-a5d1-4dd9-a97a-8122c6a58b25	38ab93fd-6d00-4329-92f0-ca4d05d80a11	g.chr3:156866322G>A	ENST00000295926.3	-	11	1407	c.1289C>T	c.(1288-1290)tCc>tTc	p.S430F	CCNL1_ENST00000461804.1_Intron|CCNL1_ENST00000479052.1_5'Flank	NM_020307.2	NP_064703.1	Q9UK58	CCNL1_HUMAN	cyclin L1	430	RS.				regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of transcription, DNA-templated (GO:0006355)|RNA processing (GO:0006396)|transcription, DNA-templated (GO:0006351)	nuclear speck (GO:0016607)|nucleus (GO:0005634)				NS(1)|breast(1)|cervix(2)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|stomach(1)	18			LUSC - Lung squamous cell carcinoma(72;0.0295)|Lung(72;0.0308)			GTGACTGCGGGACCTGCTTCT	0.408																																						ENST00000295926.3																			0				NS(1)|breast(1)|cervix(2)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|stomach(1)	18						c.(1288-1290)tCc>tTc		cyclin L1							158	159	159					3																	156866322		2203	4300	6503	SO:0001583	missense	57018				regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|RNA processing|transcription, DNA-dependent	nuclear speck	protein kinase binding	g.chr3:156866322G>A	AF180920	CCDS3178.1	3q25.31	2008-02-05			ENSG00000163660	ENSG00000163660			20569	protein-coding gene	gene with protein product		613384				11980906	Standard	NM_020307		Approved	ania-6a	uc003fbf.3	Q9UK58	OTTHUMG00000158713	ENST00000295926.3:c.1289C>T	3.37:g.156866322G>A	ENSP00000295926:p.Ser430Phe					CCNL1_ENST00000461804.1_Intron	p.S430F	NM_020307.2	NP_064703.1	Q9UK58	CCNL1_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0295)|Lung(72;0.0308)		11	1407	-			430			RS.		B3KMY3|Q6NVY9|Q6UWS7|Q8NI48|Q96QT0|Q9NZF3	Missense_Mutation	SNP	ENST00000295926.3	37	c.1289C>T	CCDS3178.1	.	.	.	.	.	.	.	.	.	.	G	25.3	4.618954	0.87460	.	.	ENSG00000163660	ENST00000295926	T	0.45276	0.9	5.27	5.27	0.74061	.	0.103283	0.64402	D	0.000002	T	0.65059	0.2655	M	0.66297	2.02	0.80722	D	1	D	0.65815	0.995	D	0.75484	0.986	T	0.66826	-0.5825	10	0.66056	D	0.02	-10.4214	19.263	0.93975	0.0:0.0:1.0:0.0	.	430	Q9UK58	CCNL1_HUMAN	F	430	ENSP00000295926:S430F	ENSP00000295926:S430F	S	-	2	0	CCNL1	158349016	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.500000	0.90498	2.612000	0.88384	0.557000	0.71058	TCC		0.408	CCNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351859.1	NM_020307		4	111	0	0	0	1	0	4	111					A	156866322	G	A	156866322	3	1	350	1	0	0	0	0	1	0	0	0	2931	1174	41	3	295	3	CCNL1	3	156866322	Missense_Mutation	SNP	G	TCGA-M7-A71Y-01A-22D-A32B-08	112103749	156866322	41156108	6	17633											
MASP1	5648	broad.mit.edu	37	chr3	186954037	186954037	+	Intron	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggatgttgaagtctgggtggAgcaccactcgggcagctgag	8	8	17	8	1	1	2	0	2	1	0	2	4	1	4	1	4	2	4	1	4	1	1			TCGA-M7-A71Y-01A-22D-A32B-08	TCGA-M7-A71Y-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99d703ae-a5d1-4dd9-a97a-8122c6a58b25	38ab93fd-6d00-4329-92f0-ca4d05d80a11	g.chr3:186954037A>G	ENST00000337774.5	-	10	1693				MASP1_ENST00000495249.1_5'UTR|MASP1_ENST00000392472.2_Missense_Mutation_p.L428P|MASP1_ENST00000296280.6_Missense_Mutation_p.L541P	NM_001879.5	NP_001870.3	P48740	MASP1_HUMAN	mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor)						complement activation (GO:0006956)|complement activation, lectin pathway (GO:0001867)|innate immune response (GO:0045087)|negative regulation of complement activation (GO:0045916)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	calcium ion binding (GO:0005509)|calcium-dependent protein binding (GO:0048306)|peptidase activity (GO:0008233)|protein homodimerization activity (GO:0042803)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(27)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	60	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;3.49e-18)	GBM - Glioblastoma multiforme(93;0.0366)		GTCTGGGTGGAGCACCACTCG	0.572																																						ENST00000296280.6																			0				NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(27)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	60						c.(1621-1623)cTc>cCc		mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor)							81	75	77					3																	186954037		2203	4300	6503	SO:0001627	intron_variant	5648				complement activation, lectin pathway|negative regulation of complement activation|proteolysis	extracellular space	calcium ion binding|calcium-dependent protein binding|protein binding|protein homodimerization activity|serine-type endopeptidase activity	g.chr3:186954037A>G	D28593	CCDS33907.1, CCDS33908.1, CCDS33909.1	3q27-q28	2014-09-17	2005-08-17		ENSG00000127241	ENSG00000127241		"Serine peptidases / Serine peptidases"	6901	protein-coding gene	gene with protein product		600521	"mannan-binding lectin serine protease 1 (C4/C2 activating component of Ra-reactive factor)"	CRARF, PRSS5		8018603, 8240317	Standard	NR_033519		Approved	MASP	uc003fri.3	P48740	OTTHUMG00000156461	ENST00000337774.5:c.1303+5231T>C	3.37:g.186954037A>G						MASP1_ENST00000337774.5_Intron|MASP1_ENST00000392472.2_Missense_Mutation_p.L428P|MASP1_ENST00000495249.1_5'UTR	p.L541P	NM_139125.3	NP_624302.1	P48740	MASP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;3.49e-18)	GBM - Glioblastoma multiforme(93;0.0366)	11	1847	-	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		540			Peptidase S1.		A8K542|A8K6M1|B4E2L7|O95570|Q68D21|Q8IUV8|Q96RS4|Q9UF09	Missense_Mutation	SNP	ENST00000337774.5	37	c.1622T>C	CCDS33907.1	.	.	.	.	.	.	.	.	.	.	A	17.04	3.287444	0.59976	.	.	ENSG00000127241	ENST00000296280;ENST00000392472;ENST00000541896	D;D	0.93133	-3.17;-3.17	5.96	5.96	0.96718	.	0.000000	0.85682	D	0.000000	D	0.87779	0.6263	N	0.10945	0.07	0.80722	D	1	B;B	0.27971	0.196;0.079	B;B	0.33339	0.162;0.099	D	0.85995	0.1491	10	0.51188	T	0.08	.	15.6032	0.76642	1.0:0.0:0.0:0.0	.	428;541	P48740-4;P48740-2	.;.	P	541;428;428	ENSP00000296280:L541P;ENSP00000376264:L428P	ENSP00000296280:L541P	L	-	2	0	MASP1	188436731	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	9.270000	0.95690	2.270000	0.75569	0.533000	0.62120	CTC		0.572	MASP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344262.1	NM_001879		3	41	0	0	0	1	0	3	41					G	186954037	A	G	186954037	1	3	350	0	1	0	0	0	0	0	0	0	9322	304	11	4		4	MASP1	3	186954037	Intron	SNP	A	TCGA-M7-A71Y-01A-22D-A32B-08	30087715	186954037	11068393	7	17634											
DNAH5	1767	broad.mit.edu	37	chr5	13700934	13700934	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atttggtgacttcattgcaaAgcaccatattgtccagagcc	11	12	8	10	0	1	2	1	1	0	1	2	2	2	2	3	1	3	2	3	1	2	5			TCGA-M7-A71Y-01A-22D-A32B-08	TCGA-M7-A71Y-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99d703ae-a5d1-4dd9-a97a-8122c6a58b25	38ab93fd-6d00-4329-92f0-ca4d05d80a11	g.chr5:13700934A>C	ENST00000265104.4	-	78	13642	c.13538T>G	c.(13537-13539)cTt>cGt	p.L4513R		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	4513					cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TTCATTGCAAAGCACCATATT	0.473									Kartagener syndrome																													ENST00000265104.4																			0				NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378						c.(13537-13539)cTt>cGt		dynein, axonemal, heavy chain 5							158	147	150					5																	13700934		2203	4300	6503	SO:0001583	missense	1767	Kartagener syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr5:13700934A>C	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"Axonemal dyneins"	2950	protein-coding gene	gene with protein product	"dynein heavy chain 5"	603335	"dynein, axonemal, heavy polypeptide 5"			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.13538T>G	5.37:g.13700934A>C	ENSP00000265104:p.Leu4513Arg						p.L4513R	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN			78	13642	-	Lung NSC(4;0.00476)		4513					Q92860|Q96L74|Q9H5S7|Q9HCG9	Missense_Mutation	SNP	ENST00000265104.4	37	c.13538T>G	CCDS3882.1	.	.	.	.	.	.	.	.	.	.	A	27.3	4.816079	0.90790	.	.	ENSG00000039139	ENST00000265104	T	0.16897	2.31	5.95	5.95	0.96441	Dynein heavy chain (1);	0.068324	0.64402	D	0.000012	T	0.56485	0.1988	H	0.96269	3.795	0.80722	D	1	D	0.63880	0.993	D	0.71184	0.972	T	0.71550	-0.4559	10	0.87932	D	0	.	16.4323	0.83853	1.0:0.0:0.0:0.0	.	4513	Q8TE73	DYH5_HUMAN	R	4513	ENSP00000265104:L4513R	ENSP00000265104:L4513R	L	-	2	0	DNAH5	13753934	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.282000	0.95840	2.281000	0.76405	0.528000	0.53228	CTT		0.473	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369		20	136	0	0	0	1	0	20	136					C	13700934	A	C	13700934	3	2	350	1	0	0	0	0	1	0	0	0	4604	72	3	5	344	5	DNAH5	5	13700934	Missense_Mutation	SNP	A	TCGA-M7-A71Y-01A-22D-A32B-08		13700934	167214326	8	17635											
GPR98	84059	broad.mit.edu	37	chr5	89943433	89943434	+	Frame_Shift_Del	DEL	AA	AA	-																															aaggatgggaaggctactgcAagagagagagatttcattcc																								rs950692	byFrequency	TCGA-M7-A71Y-01A-22D-A32B-08	TCGA-M7-A71Y-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99d703ae-a5d1-4dd9-a97a-8122c6a58b25	38ab93fd-6d00-4329-92f0-ca4d05d80a11	g.chr5:89943433_89943434delAA	ENST00000405460.2	+	17	3237_3238	c.3141_3142delAA	c.(3139-3144)gcaagafs	p.R1048fs		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	1048	Calx-beta 8. {ECO:0000255}.				detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		AGGCTACTGCAAGAGAGAGAGA	0.416																																						ENST00000405460.2																			0				NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269						c.(3139-3144)gcgafs		G protein-coupled receptor 98																																				SO:0001589	frameshift_variant	84059				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr5:89943433_89943434delAA	AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"-", "GPCR / Class B : Orphans"	17416	protein-coding gene	gene with protein product		602851	"monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.3141_3142delAA	5.37:g.89943433_89943434delAA	ENSP00000384582:p.Arg1048fs						p.AR1047fs	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)	17	3237_3238	+		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)	1047					O75171|Q8TF58|Q9H0X5|Q9UL61	Frame_Shift_Del	DEL	ENST00000405460.2	37	c.3141_3142delAA	CCDS47246.1																																																																																				0.416	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2	NM_032119		7	121						7	121	---	---	---	---	-	89943434	AA	-	89943433	7	5	350	1	0	1	0	1	0	0	0	0	6721	117	5	0	3207	0	GPR98	5	89943433	Frame_Shift_Del	DEL	AA	TCGA-M7-A71Y-01A-22D-A32B-08	76242499	89943433	90971827	9	17636											
SYNCRIP	10492	broad.mit.edu	37	chr6	86333756	86333756	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttactcttaggaatagagccCacaaaaagcctattgttggc	13	11	8	9	0	1	1	0	0	1	1	1	2	1	2	2	2	3	1	2	2	7	6			TCGA-M7-A71Y-01A-22D-A32B-08	TCGA-M7-A71Y-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99d703ae-a5d1-4dd9-a97a-8122c6a58b25	38ab93fd-6d00-4329-92f0-ca4d05d80a11	g.chr6:86333756C>A	ENST00000369622.3	-	7	1241	c.741G>T	c.(739-741)gtG>gtT	p.V247V	SYNCRIP_ENST00000355238.6_Silent_p.V247V	NM_001159675.1|NM_006372.4	NP_001153147.1|NP_006363.4	O60506	HNRPQ_HUMAN	synaptotagmin binding, cytoplasmic RNA interacting protein	247	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				cellular response to interferon-gamma (GO:0071346)|CRD-mediated mRNA stabilization (GO:0070934)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of translation (GO:0017148)|osteoblast differentiation (GO:0001649)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|viral process (GO:0016032)	catalytic step 2 spliceosome (GO:0071013)|CRD-mediated mRNA stability complex (GO:0070937)|endoplasmic reticulum (GO:0005783)|GAIT complex (GO:0097452)|histone pre-mRNA 3'end processing complex (GO:0071204)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	33		all_cancers(76;0.000137)|Acute lymphoblastic leukemia(125;3.66e-08)|Prostate(29;8.2e-07)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0297)		BRCA - Breast invasive adenocarcinoma(108;0.0389)		GAATAGAGCCCACAAAAAGCC	0.358																																						ENST00000355238.6																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	33						c.(739-741)gtG>gtT		synaptotagmin binding, cytoplasmic RNA interacting protein							98	95	96					6																	86333756		2203	4300	6503	SO:0001819	synonymous_variant	10492				CRD-mediated mRNA stabilization|interspecies interaction between organisms	catalytic step 2 spliceosome|CRD-mediated mRNA stability complex|endoplasmic reticulum|histone pre-mRNA 3'end processing complex|microsome|nucleoplasm	nucleotide binding|protein binding	g.chr6:86333756C>A	AF037448	CCDS5005.1, CCDS55041.1, CCDS75491.1	6q14-q15	2013-05-23			ENSG00000135316	ENSG00000135316		"RNA binding motif (RRM) containing"	16918	protein-coding gene	gene with protein product	"heterogeneous nuclear ribonucleoprotein Q"					9847309, 11352648	Standard	NM_006372		Approved	NSAP1, GRY-RBP, dJ3J17.2, HNRPQ1, hnRNP-Q, HNRNPQ	uc003pla.2	O60506	OTTHUMG00000015141	ENST00000369622.3:c.741G>T	6.37:g.86333756C>A						SYNCRIP_ENST00000369622.3_Silent_p.V247V	p.V247V	NM_001159673.1|NM_001159674.1|NM_001159676.1|NM_001159677.1|NM_001253771.1	NP_001153145.1|NP_001153146.1|NP_001153148.1|NP_001153149.1|NP_001240700.1	O60506	HNRPQ_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0389)	7	947	-		all_cancers(76;0.000137)|Acute lymphoblastic leukemia(125;3.66e-08)|Prostate(29;8.2e-07)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0297)	247			RRM 2.		E1P501|E1P502|Q53H05|Q5TCG2|Q5TCG3|Q8IW78|Q8N599|Q96LC1|Q96LC2|Q9Y583	Silent	SNP	ENST00000369622.3	37	c.741G>T	CCDS5005.1																																																																																				0.358	SYNCRIP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041396.1	NM_006372		5	70	1	0	0.184627	1	0.184627	5	70					A	86333756	C	A	86333756	2	1	350	1	0	0	0	0	0	0	0	1	15441	581	21	5		5	SYNCRIP	6	86333756	Silent	SNP	C	TCGA-M7-A71Y-01A-22D-A32B-08		86333756	84781311	10	17637											
NPC1L1	29881	broad.mit.edu	37	chr7	44553094	44553094	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagttgctgatggcaccagcAcctttgatagaaccttcaaa	13	10	8	10	0	1	3	1	2	0	1	1	3	1	3	3	1	3	4	3	1	4	4			TCGA-M7-A71Y-01A-22D-A32B-08	TCGA-M7-A71Y-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99d703ae-a5d1-4dd9-a97a-8122c6a58b25	38ab93fd-6d00-4329-92f0-ca4d05d80a11	g.chr7:44553094A>C	ENST00000289547.4	-	20	4087	c.4032T>G	c.(4030-4032)ggT>ggG	p.G1344G	NPC1L1_ENST00000381160.3_Silent_p.G1317G|NPC1L1_ENST00000546276.1_Silent_p.G1271G	NM_013389.2	NP_037521.2	Q9UHC9	NPCL1_HUMAN	NPC1-like 1	1344					cholesterol biosynthetic process (GO:0006695)|cholesterol transport (GO:0030301)|intestinal cholesterol absorption (GO:0030299)|lipoprotein metabolic process (GO:0042157)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|sterol transport (GO:0015918)	brush border membrane (GO:0031526)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	drug binding (GO:0008144)|hedgehog receptor activity (GO:0008158)|myosin V binding (GO:0031489)|Rab GTPase binding (GO:0017137)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	57					Ezetimibe(DB00973)	TGGCACCAGCACCTTTGATAG	0.537																																						ENST00000289547.4																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	57						c.(4030-4032)ggT>ggG		NPC1-like 1	Ezetimibe(DB00973)						119	112	115					7																	44553094		2203	4300	6503	SO:0001819	synonymous_variant	29881				cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process	apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane	hedgehog receptor activity|protein binding	g.chr7:44553094A>C		CCDS5491.1, CCDS43575.1, CCDS75587.1	7p13	2012-11-15	2012-11-15		ENSG00000015520	ENSG00000015520			7898	protein-coding gene	gene with protein product		608010	"NPC1 (Niemann-Pick disease, type C1, gene)-like 1"			10783261	Standard	NM_013389		Approved		uc003tlb.3	Q9UHC9	OTTHUMG00000023691	ENST00000289547.4:c.4032T>G	7.37:g.44553094A>C						NPC1L1_ENST00000381160.3_Silent_p.G1317G|NPC1L1_ENST00000546276.1_Silent_p.G1271G	p.G1344G	NM_013389.2	NP_037521.2	Q9UHC9	NPCL1_HUMAN			20	4087	-			1344					A4D2J7|B7ZLE6|D3DVK9|Q17RV5|Q6R3Q4|Q9UHC8	Silent	SNP	ENST00000289547.4	37	c.4032T>G	CCDS5491.1																																																																																				0.537	NPC1L1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251256.1	NM_013389		16	70	0	0	0	1	0	16	70					C	44553094	A	C	44553094	2	2	350	1	0	0	0	0	0	0	0	1	10571	146	6	5		5	NPC1L1	7	44553094	Silent	SNP	A	TCGA-M7-A71Y-01A-22D-A32B-08		44553094	114585569	11	17638											
PCLO	27445	broad.mit.edu	37	chr7	82430883	82430883	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cctggctgttttacaggctcTtgtccattctgtcccatctt	4	17	7	13	0	3	0	0	0	3	0	5	0	5	0	3	2	1	3	3	2	1	5			TCGA-M7-A71Y-01A-22D-A32B-08	TCGA-M7-A71Y-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99d703ae-a5d1-4dd9-a97a-8122c6a58b25	38ab93fd-6d00-4329-92f0-ca4d05d80a11	g.chr7:82430883T>C	ENST00000333891.9	-	22	15295	c.14958A>G	c.(14956-14958)caA>caG	p.Q4986Q		NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein											breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TTACAGGCTCTTGTCCATTCT	0.353																																						ENST00000333891.8																			0				breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						c.(14956-14958)caA>caG		piccolo presynaptic cytomatrix protein							113	109	110					7																	82430883		1819	4079	5898	SO:0001819	synonymous_variant	27445				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	g.chr7:82430883T>C	AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"aczonin"	604918	"piccolo (presynaptic cytomatrix protein)"			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.14958A>G	7.37:g.82430883T>C							p.Q4986Q	NM_033026.5	NP_149015.2	Q9Y6V0	PCLO_HUMAN			22	15295	-			4909			C2 2.			Silent	SNP	ENST00000333891.9	37	c.14958A>G	CCDS47630.1																																																																																				0.353	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510		4	70	0	0	0	1	0	4	70					C	82430883	T	C	82430883	2	2	350	1	0	0	0	0	0	0	0	1	11583	1606	56	4		4	PCLO	7	82430883	Silent	SNP	T	TCGA-M7-A71Y-01A-22D-A32B-08	37877789	82430883	76707780	12	17639											
NRCAM	4897	broad.mit.edu	37	chr7	107790554	107790554	+	Frame_Shift_Del	DEL	C	C	-																															cagtcctgtctgaaggagttCgacttccttttttcaaaggc																										TCGA-M7-A71Y-01A-22D-A32B-08	TCGA-M7-A71Y-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99d703ae-a5d1-4dd9-a97a-8122c6a58b25	38ab93fd-6d00-4329-92f0-ca4d05d80a11	g.chr7:107790554delC	ENST00000425651.2	-	30	3715	c.3716delG	c.(3715-3717)cgafs	p.R1239fs	NRCAM_ENST00000379024.4_Frame_Shift_Del_p.R1127fs|NRCAM_ENST00000351718.4_Frame_Shift_Del_p.R1118fs|NRCAM_ENST00000379028.3_Frame_Shift_Del_p.R1239fs|NRCAM_ENST00000413765.2_Frame_Shift_Del_p.R1115fs|NRCAM_ENST00000522550.2_5'UTR	NM_001037132.2	NP_001032209.1	Q92823	NRCAM_HUMAN	neuronal cell adhesion molecule	1239					angiogenesis (GO:0001525)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|axonogenesis (GO:0007409)|central nervous system development (GO:0007417)|clustering of voltage-gated sodium channels (GO:0045162)|heterotypic cell-cell adhesion (GO:0034113)|neuron migration (GO:0001764)|neuronal action potential propagation (GO:0019227)|positive regulation of neuron differentiation (GO:0045666)|protein localization (GO:0008104)|regulation of axon extension (GO:0030516)|retinal ganglion cell axon guidance (GO:0031290)|single organismal cell-cell adhesion (GO:0016337)|synapse assembly (GO:0007416)	axon initial segment (GO:0043194)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)	ankyrin binding (GO:0030506)			breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(1)|lung(36)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	65						TGAAGGAGTTCGACTTCCTTT	0.398																																						ENST00000379028.3																			0				breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(1)|lung(36)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	65						c.(3715-3717)cafs		neuronal cell adhesion molecule							196	181	187					7																	107790554		2203	4300	6503	SO:0001589	frameshift_variant	4897				angiogenesis|axon guidance|axonal fasciculation|cell-cell adhesion|central nervous system development|clustering of voltage-gated sodium channels|neuron migration|positive regulation of neuron differentiation|regulation of axon extension|synapse assembly	external side of plasma membrane|integral to plasma membrane	ankyrin binding	g.chr7:107790554delC		CCDS5751.1, CCDS47686.1, CCDS55153.1, CCDS75652.1	7q31	2013-02-11			ENSG00000091129	ENSG00000091129		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	7994	protein-coding gene	gene with protein product	"NgCAM-related cell adhesion molecule"	601581				8812479	Standard	NM_001037132		Approved	KIAA0343, Bravo	uc022aka.1	Q92823	OTTHUMG00000154973	ENST00000425651.2:c.3716delG	7.37:g.107790554delC	ENSP00000401244:p.Arg1239fs					NRCAM_ENST00000413765.2_Frame_Shift_Del_p.R1115fs|NRCAM_ENST00000379024.4_Frame_Shift_Del_p.R1127fs|NRCAM_ENST00000351718.4_Frame_Shift_Del_p.R1118fs|NRCAM_ENST00000522550.2_5'UTR|NRCAM_ENST00000425651.2_Frame_Shift_Del_p.R1239fs	p.R1239fs			Q92823	NRCAM_HUMAN			33	4186	-			1239					A4D0S3|E9PDA4|O15051|O15179|Q14BM2|Q9UHI3|Q9UHI4	Frame_Shift_Del	DEL	ENST00000425651.2	37	c.3716delG	CCDS47686.1																																																																																				0.398	NRCAM-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337942.2	NM_001037132		29	245						29	245	---	---	---	---	-	107790554	C	-	107790554	7	5	350	1	0	1	0	1	0	0	0	0	10644	884	31	0	202	0	NRCAM	7	107790554	Frame_Shift_Del	DEL	C	TCGA-M7-A71Y-01A-22D-A32B-08	25359671	107790554	51348109	13	17640											
RP1	6101	broad.mit.edu	37	chr8	55533943	55533943	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	attagcgcgcactcaccgccCcaccccgtagccgtcgctgc	6	6	9	20	6	1	0	1	0	0	0	2	0	1	0	6	0	3	3	6	0	2	2			TCGA-M7-A71Y-01A-22D-A32B-08	TCGA-M7-A71Y-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99d703ae-a5d1-4dd9-a97a-8122c6a58b25	38ab93fd-6d00-4329-92f0-ca4d05d80a11	g.chr8:55533943C>G	ENST00000220676.1	+	2	565	c.417C>G	c.(415-417)ccC>ccG	p.P139P		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	139					axoneme assembly (GO:0035082)|cellular response to light stimulus (GO:0071482)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|photoreceptor cell outer segment organization (GO:0035845)|phototransduction, visible light (GO:0007603)|retinal cone cell development (GO:0046549)|retinal rod cell development (GO:0046548)|visual perception (GO:0007601)	axoneme (GO:0005930)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)	microtubule binding (GO:0008017)			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			ACTCACCGCCCCACCCCGTAG	0.697																																					Colon(91;1014 1389 7634 14542 40420)	ENST00000220676.1																			0				NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169						c.(415-417)ccC>ccG		retinitis pigmentosa 1 (autosomal dominant)							27	33	31					8																	55533943		2192	4294	6486	SO:0001819	synonymous_variant	6101				axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding	g.chr8:55533943C>G	AF146592	CCDS6160.1	8q12.1	2013-01-08				ENSG00000104237			10263	protein-coding gene	gene with protein product		603937				1783394	Standard	NM_006269		Approved	DCDC4A	uc003xsd.1	P56715		ENST00000220676.1:c.417C>G	8.37:g.55533943C>G							p.P139P	NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)		2	565	+		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	139						Silent	SNP	ENST00000220676.1	37	c.417C>G	CCDS6160.1																																																																																				0.697	RP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378532.2	NM_006269		5	58	0	0	0	1	0	5	58					G	55533943	C	G	55533943	2	3	350	1	0	0	0	0	0	0	0	1	13532	610	22	5		5	RP1	8	55533943	Silent	SNP	C	TCGA-M7-A71Y-01A-22D-A32B-08		55533943	90830079	14	17641											
DNAJB5	25822	broad.mit.edu	37	chr9	34993218	34993218	+	5'UTR	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacaaggagaccagtgctggTccagtggctgtgatgggaaa	12	7	15	7	0	0	2	0	1	0	1	1	4	1	3	2	4	2	2	2	4	3	0			TCGA-M7-A71Y-01A-22D-A32B-08	TCGA-M7-A71Y-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99d703ae-a5d1-4dd9-a97a-8122c6a58b25	38ab93fd-6d00-4329-92f0-ca4d05d80a11	g.chr9:34993218T>C	ENST00000541010.1	+	0	3000				DNAJB5_ENST00000312316.5_5'UTR|DNAJB5_ENST00000335998.3_Silent_p.G30G|DNAJB5_ENST00000545841.1_5'UTR|DNAJB5_ENST00000454002.2_Silent_p.G68G|DNAJB5_ENST00000453597.3_Silent_p.G110G			O75953	DNJB5_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 5						negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|protein folding (GO:0006457)|response to unfolded protein (GO:0006986)	cytosol (GO:0005829)|nucleus (GO:0005634)	chaperone binding (GO:0051087)			kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	12			LUSC - Lung squamous cell carcinoma(32;0.00575)			CCAGTGCTGGTCCAGTGGCTG	0.502																																						ENST00000454002.2																			0				kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	12						c.(202-204)ggT>ggC		DnaJ (Hsp40) homolog, subfamily B, member 5							56	62	60					9																	34993218		2203	4300	6503	SO:0001623	5_prime_UTR_variant	25822				protein folding|response to unfolded protein		heat shock protein binding|unfolded protein binding	g.chr9:34993218T>C	AF088982	CCDS35007.1, CCDS47959.1, CCDS47960.1, CCDS47960.2	9p	2011-09-02			ENSG00000137094	ENSG00000137094		"Heat shock proteins / DNAJ (HSP40)"	14887	protein-coding gene	gene with protein product		611328				10570961, 11147971	Standard	NM_001135004		Approved	Hsc40	uc003zvs.4	O75953	OTTHUMG00000019840	ENST00000541010.1:c.-13T>C	9.37:g.34993218T>C						DNAJB5_ENST00000541010.1_5'UTR|DNAJB5_ENST00000312316.5_5'UTR|DNAJB5_ENST00000335998.3_Silent_p.G30G|DNAJB5_ENST00000545841.1_5'UTR|DNAJB5_ENST00000453597.3_Silent_p.G110G	p.G68G	NM_001135005.2	NP_001128477.1	O75953	DNJB5_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00575)		2	585	+			0			J.		B3KN14|B4DSA6|J3KQM9|J3KR08|Q5T656|Q8TDR7|Q96EM4	Silent	SNP	ENST00000541010.1	37	c.204T>C	CCDS35007.1																																																																																				0.502	DNAJB5-008	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401397.1			6	31	0	0	0	1	0	6	31					C	34993218	T	C	34993218	1	2	350	0	1	0	0	0	0	0	0	0	4623	1654	58	4		4	DNAJB5	9	34993218	5'UTR	SNP	T	TCGA-M7-A71Y-01A-22D-A32B-08		34993218	106220213	15	17642											
VAV2	7410	broad.mit.edu	37	chr9	136642579	136642579	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgacttcctggtttgtaccaGacgaccctggcagaggaaag	10	9	12	10	1	0	3	0	1	0	2	1	5	1	4	3	3	1	3	3	3	2	3			TCGA-M7-A71Y-01A-22D-A32B-08	TCGA-M7-A71Y-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99d703ae-a5d1-4dd9-a97a-8122c6a58b25	38ab93fd-6d00-4329-92f0-ca4d05d80a11	g.chr9:136642579G>C	ENST00000371850.3	-	23	1928	c.1897C>G	c.(1897-1899)Ctg>Gtg	p.L633V	VAV2_ENST00000371851.1_Missense_Mutation_p.L623V|VAV2_ENST00000406606.3_Missense_Mutation_p.L623V	NM_001134398.1	NP_001127870.1	P52735	VAV2_HUMAN	vav 2 guanine nucleotide exchange factor	633	SH3 1. {ECO:0000255|PROSITE- ProRule:PRU00192}.				angiogenesis (GO:0001525)|apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|lamellipodium assembly (GO:0030032)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|central_nervous_system(3)|endometrium(1)|kidney(3)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(1)	35				OV - Ovarian serous cystadenocarcinoma(145;3.9e-07)|Epithelial(140;2.07e-06)|all cancers(34;9.39e-06)		GTTTGTACCAGACGACCCTGG	0.572																																						ENST00000371851.1																			0				breast(1)|central_nervous_system(3)|endometrium(1)|kidney(3)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(1)	35						c.(1867-1869)Ctg>Gtg		vav 2 guanine nucleotide exchange factor							111	106	108					9																	136642579		2203	4300	6503	SO:0001583	missense	7410				angiogenesis|apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	metal ion binding|Rho guanyl-nucleotide exchange factor activity	g.chr9:136642579G>C		CCDS6979.1, CCDS48053.1	9q34.1	2013-02-14	2007-07-25		ENSG00000160293	ENSG00000160293		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing", "SH2 domain containing"	12658	protein-coding gene	gene with protein product		600428	"vav 2 oncogene"			7762982	Standard	NM_003371		Approved		uc004ces.3	P52735	OTTHUMG00000020882	ENST00000371850.3:c.1897C>G	9.37:g.136642579G>C	ENSP00000360916:p.Leu633Val					VAV2_ENST00000406606.3_Missense_Mutation_p.L623V|VAV2_ENST00000371850.3_Missense_Mutation_p.L633V	p.L623V			P52735	VAV2_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;3.9e-07)|Epithelial(140;2.07e-06)|all cancers(34;9.39e-06)	21	2192	-			633			SH3 1.		A2RUM4|A8MQ12|B6ZDF5|Q5SYV3|Q5SYV4|Q5SYV5|Q6N012|Q6PIJ9|Q6Q317	Missense_Mutation	SNP	ENST00000371850.3	37	c.1867C>G	CCDS48053.1	.	.	.	.	.	.	.	.	.	.	G	8.119	0.780473	0.16120	.	.	ENSG00000160293	ENST00000371850;ENST00000371851;ENST00000406606;ENST00000325440	T;T;T	0.06528	3.29;3.29;3.29	4.27	2.21	0.28008	Src homology-3 domain (3);Variant SH3 (1);	0.079753	0.52532	D	0.000079	T	0.07863	0.0197	L	0.48986	1.54	0.49483	D	0.999794	B;P;B	0.44309	0.014;0.832;0.009	B;B;B	0.44224	0.036;0.444;0.022	T	0.41034	-0.9531	10	0.18710	T	0.47	.	11.1869	0.48662	0.1795:0.0:0.8205:0.0	.	623;633;623	P52735-2;P52735;P52735-3	.;VAV2_HUMAN;.	V	633;623;623;623	ENSP00000360916:L633V;ENSP00000360917:L623V;ENSP00000385362:L623V	ENSP00000317258:L623V	L	-	1	2	VAV2	135632400	1.000000	0.71417	0.983000	0.44433	0.658000	0.38924	1.978000	0.40598	0.998000	0.38996	0.655000	0.94253	CTG		0.572	VAV2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054939.1			15	88	0	0	0	1	0	15	88					C	136642579	G	C	136642579	3	2	350	1	0	0	0	0	1	0	0	0	17129	933	33	5	771	5	VAV2	9	136642579	Missense_Mutation	SNP	G	TCGA-M7-A71Y-01A-22D-A32B-08	101649361	136642579	4570852	16	17643											
CHST1	8534	broad.mit.edu	37	chr11	45671609	45671609	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcccttgagccacgggggccGcatgaggccggtggacacgg	6	4	18	13	4	0	2	0	2	0	0	0	3	0	3	4	6	1	1	4	6	0	1			TCGA-M7-A71Y-01A-22D-A32B-08	TCGA-M7-A71Y-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99d703ae-a5d1-4dd9-a97a-8122c6a58b25	38ab93fd-6d00-4329-92f0-ca4d05d80a11	g.chr11:45671609G>A	ENST00000308064.2	-	4	1535	c.865C>T	c.(865-867)Cgg>Tgg	p.R289W	RP11-495O11.1_ENST00000525563.1_RNA|CHST1_ENST00000533673.1_5'Flank	NM_003654.5	NP_003645.1	O43916	CHST1_HUMAN	carbohydrate (keratan sulfate Gal-6) sulfotransferase 1	289					carbohydrate metabolic process (GO:0005975)|galactose metabolic process (GO:0006012)|glycosaminoglycan metabolic process (GO:0030203)|inflammatory response (GO:0006954)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|polysaccharide metabolic process (GO:0005976)|small molecule metabolic process (GO:0044281)|sulfur compound metabolic process (GO:0006790)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	keratan sulfotransferase activity (GO:0045130)|sulfotransferase activity (GO:0008146)			breast(1)|endometrium(3)|large_intestine(10)|lung(17)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(35;3e-06)|BRCA - Breast invasive adenocarcinoma(625;0.0781)		CACGGGGGCCGCATGAGGCCG	0.617																																						ENST00000308064.2																			0				breast(1)|endometrium(3)|large_intestine(10)|lung(17)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	42						c.(865-867)Cgg>Tgg		carbohydrate (keratan sulfate Gal-6) sulfotransferase 1							87	77	80					11																	45671609		2203	4299	6502	SO:0001583	missense	8534				galactose metabolic process|inflammatory response|keratan sulfate metabolic process	Golgi membrane|integral to membrane	keratan sulfotransferase activity	g.chr11:45671609G>A	U65637	CCDS7913.1	11p11.2	2010-04-29			ENSG00000175264	ENSG00000175264		"Sulfotransferases, membrane-bound"	1969	protein-coding gene	gene with protein product		603797				9405439, 9639683	Standard	NM_003654		Approved	C6ST, KSGal6ST	uc001mys.2	O43916		ENST00000308064.2:c.865C>T	11.37:g.45671609G>A	ENSP00000309270:p.Arg289Trp						p.R289W	NM_003654.5	NP_003645.1	O43916	CHST1_HUMAN		GBM - Glioblastoma multiforme(35;3e-06)|BRCA - Breast invasive adenocarcinoma(625;0.0781)	4	1535	-			289					D3DQP2	Missense_Mutation	SNP	ENST00000308064.2	37	c.865C>T	CCDS7913.1	.	.	.	.	.	.	.	.	.	.	G	19.41	3.821565	0.71028	.	.	ENSG00000175264	ENST00000308064	T	0.76316	-1.01	4.89	4.89	0.63831	Sulfotransferase domain (1);	0.062547	0.64402	D	0.000005	D	0.86422	0.5929	M	0.67953	2.075	0.58432	D	0.999998	D	0.89917	1.0	D	0.70935	0.971	D	0.85721	0.1325	10	0.37606	T	0.19	-19.3412	18.0436	0.89326	0.0:0.0:1.0:0.0	.	289	O43916	CHST1_HUMAN	W	289	ENSP00000309270:R289W	ENSP00000309270:R289W	R	-	1	2	CHST1	45628185	1.000000	0.71417	0.850000	0.33497	0.988000	0.76386	5.503000	0.66962	2.252000	0.74401	0.462000	0.41574	CGG		0.617	CHST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390127.1	NM_003654		4	89	0	0	0	1	0	4	89					A	45671609	G	A	45671609	3	1	350	1	0	0	0	0	1	0	0	0	3397	1086	38	1	374	1	CHST1	11	45671609	Missense_Mutation	SNP	G	TCGA-M7-A71Y-01A-22D-A32B-08		45671609	89334907	17	17644											
OR6C76	390326	broad.mit.edu	37	chr12	55820588	55820588	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctgctcctttgctgcaaaTctcttgcacagacacaagta	10	12	6	13	0	2	1	0	0	2	1	4	1	3	1	1	0	4	5	1	0	3	3			TCGA-M7-A71Y-01A-22D-A32B-08	TCGA-M7-A71Y-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99d703ae-a5d1-4dd9-a97a-8122c6a58b25	38ab93fd-6d00-4329-92f0-ca4d05d80a11	g.chr12:55820588T>C	ENST00000328314.3	+	1	551	c.551T>C	c.(550-552)aTc>aCc	p.I184T		NM_001005183.1	NP_001005183.1	A6NM76	O6C76_HUMAN	olfactory receptor, family 6, subfamily C, member 76	184						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|central_nervous_system(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						TTGCTGCAAATCTCTTGCACA	0.403																																						ENST00000328314.3																			0				NS(1)|central_nervous_system(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						c.(550-552)aTc>aCc		olfactory receptor, family 6, subfamily C, member 76							114	105	108					12																	55820588		2203	4299	6502	SO:0001583	missense	390326				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr12:55820588T>C		CCDS31823.1	12q13.2	2013-09-23			ENSG00000185821	ENSG00000185821		"GPCR / Class A : Olfactory receptors"	31305	protein-coding gene	gene with protein product							Standard	NM_001005183		Approved		uc010spm.2	A6NM76	OTTHUMG00000169956	ENST00000328314.3:c.551T>C	12.37:g.55820588T>C	ENSP00000328402:p.Ile184Thr						p.I184T	NM_001005183.1	NP_001005183.1	A6NM76	O6C76_HUMAN			1	551	+			184						Missense_Mutation	SNP	ENST00000328314.3	37	c.551T>C	CCDS31823.1	.	.	.	.	.	.	.	.	.	.	t	18.25	3.581753	0.65992	.	.	ENSG00000185821	ENST00000328314	T	0.00158	8.65	4.26	4.26	0.50523	GPCR, rhodopsin-like superfamily (1);	0.145480	0.31123	U	0.008211	T	0.00328	0.0010	M	0.74647	2.275	0.25600	N	0.98661	P	0.49185	0.92	P	0.53266	0.722	T	0.44620	-0.9316	10	0.87932	D	0	.	13.473	0.61292	0.0:0.0:0.0:1.0	.	184	A6NM76	O6C76_HUMAN	T	184	ENSP00000328402:I184T	ENSP00000328402:I184T	I	+	2	0	OR6C76	54106855	0.022000	0.18835	0.363000	0.25875	0.964000	0.63967	1.635000	0.37134	1.907000	0.55213	0.434000	0.28630	ATC		0.403	OR6C76-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406675.1	NM_001005183		6	70	0	0	0	1	0	6	70					C	55820588	T	C	55820588	3	2	350	1	0	0	0	0	1	0	0	0	11200	1435	50	4	553	4	OR6C76	12	55820588	Missense_Mutation	SNP	T	TCGA-M7-A71Y-01A-22D-A32B-08		55820588	78031307	18	17645											
MON2	23041	broad.mit.edu	37	chr12	62979092	62979092	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agaagcagagattgatattcGtttgagagaggaattttcta	14	13	11	3	1	1	5	0	2	1	3	2	8	1	6	0	1	1	2	0	1	4	7			TCGA-M7-A71Y-01A-22D-A32B-08	TCGA-M7-A71Y-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99d703ae-a5d1-4dd9-a97a-8122c6a58b25	38ab93fd-6d00-4329-92f0-ca4d05d80a11	g.chr12:62979092G>A	ENST00000393632.2	+	33	5109	c.4718G>A	c.(4717-4719)cGt>cAt	p.R1573H	MON2_ENST00000551397.1_5'Flank|MON2_ENST00000546600.1_Missense_Mutation_p.R1573H|MON2_ENST00000393629.2_Missense_Mutation_p.R1567H|MON2_ENST00000552738.1_Missense_Mutation_p.R1544H|MON2_ENST00000280379.6_Missense_Mutation_p.R1574H|MON2_ENST00000393630.3_Missense_Mutation_p.R1574H	NM_015026.2	NP_055841.2	Q7Z3U7	MON2_HUMAN	MON2 homolog (S. cerevisiae)	1573					actin cytoskeleton organization (GO:0030036)|Golgi to endosome transport (GO:0006895)|positive regulation of GTPase activity (GO:0043547)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	extracellular vesicular exosome (GO:0070062)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(15)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	57			BRCA - Breast invasive adenocarcinoma(9;0.218)	GBM - Glioblastoma multiforme(28;0.128)		ATTGATATTCGTTTGAGAGAG	0.313																																						ENST00000393630.3																			0				NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(15)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	57						c.(4720-4722)cGt>cAt		MON2 homolog (S. cerevisiae)							70	70	70					12																	62979092		2203	4299	6502	SO:0001583	missense	23041				Golgi to endosome transport|protein transport	cytoplasm	ARF guanyl-nucleotide exchange factor activity|binding	g.chr12:62979092G>A		CCDS31849.1, CCDS61175.1, CCDS61177.1, CCDS61178.1	12q14.1	2014-08-12	2006-04-04		ENSG00000061987	ENSG00000061987			29177	protein-coding gene	gene with protein product			"MON2 homolog (yeast)"			16301316, 24285343	Standard	NM_015026		Approved	KIAA1040	uc001sre.3	Q7Z3U7	OTTHUMG00000169992	ENST00000393632.2:c.4718G>A	12.37:g.62979092G>A	ENSP00000377252:p.Arg1573His					MON2_ENST00000280379.6_Missense_Mutation_p.R1574H|MON2_ENST00000546600.1_Missense_Mutation_p.R1573H|MON2_ENST00000393629.2_Missense_Mutation_p.R1567H|MON2_ENST00000552738.1_Missense_Mutation_p.R1544H|MON2_ENST00000393632.2_Missense_Mutation_p.R1573H	p.R1574H	NM_001278470.1|NM_001278472.1	NP_001265399.1|NP_001265401.1	Q7Z3U7	MON2_HUMAN	BRCA - Breast invasive adenocarcinoma(9;0.218)	GBM - Glioblastoma multiforme(28;0.128)	34	5112	+			1574					A5D8U7|A7E2Y0|B9EGP5|F8VWA6|F8W1Z6|Q86TA2|Q8N3I5|Q8NAI0|Q8NHE2|Q9UPW1	Missense_Mutation	SNP	ENST00000393632.2	37	c.4721G>A	CCDS31849.1	.	.	.	.	.	.	.	.	.	.	G	27.5	4.836995	0.91117	.	.	ENSG00000061987	ENST00000393632;ENST00000393630;ENST00000280379;ENST00000546600;ENST00000552738;ENST00000393629	T;T;T;T;T;T	0.55234	0.54;0.54;0.53;0.53;0.53;0.54	5.31	5.31	0.75309	.	0.000000	0.85682	D	0.000000	T	0.56992	0.2023	N	0.14661	0.345	0.80722	D	1	D;D;D;P;D	0.89917	1.0;1.0;0.999;0.698;1.0	D;D;D;B;D	0.70016	0.927;0.967;0.934;0.165;0.95	T	0.56492	-0.7970	9	.	.	.	-12.8803	19.3407	0.94339	0.0:0.0:1.0:0.0	.	1567;1544;1573;442;1573	B9EGP5;F8VWA6;F8W1Z6;Q7Z3U7-3;Q7Z3U7-4	.;.;.;.;.	H	1573;1574;1574;1573;1544;1567	ENSP00000377252:R1573H;ENSP00000377250:R1574H;ENSP00000280379:R1574H;ENSP00000447407:R1573H;ENSP00000449215:R1544H;ENSP00000377249:R1567H	.	R	+	2	0	MON2	61265359	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.764000	0.98949	2.629000	0.89072	0.563000	0.77884	CGT		0.313	MON2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406767.3	NM_015026		9	56	0	0	0	1	0	9	56					A	62979092	G	A	62979092	3	1	350	1	0	0	0	0	1	0	0	0	9700	1145	40	1	4848	1	MON2	12	62979092	Missense_Mutation	SNP	G	TCGA-M7-A71Y-01A-22D-A32B-08	7158504	62979092	70872803	19	17646											
CTSG	1511	broad.mit.edu	37	chr14	25043007	25043007	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gttacacagcagggggcctcCggaatccccctgtaggtaga	9	7	13	12	1	0	1	0	0	0	1	2	2	2	2	4	4	2	4	4	4	4	3			TCGA-M7-A71Y-01A-22D-A32B-08	TCGA-M7-A71Y-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99d703ae-a5d1-4dd9-a97a-8122c6a58b25	38ab93fd-6d00-4329-92f0-ca4d05d80a11	g.chr14:25043007C>T	ENST00000216336.2	-	5	640	c.604G>A	c.(604-606)Gga>Aga	p.G202R		NM_001911.2	NP_001902.1	P08311	CATG_HUMAN	cathepsin G	202	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				angiotensin maturation (GO:0002003)|cellular protein metabolic process (GO:0044267)|defense response to fungus (GO:0050832)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|immune response (GO:0006955)|negative regulation of growth of symbiont in host (GO:0044130)|neutrophil mediated killing of gram-positive bacterium (GO:0070946)|positive regulation of immune response (GO:0050778)|proteolysis (GO:0006508)|response to lipopolysaccharide (GO:0032496)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)	heparin binding (GO:0008201)|peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)			autonomic_ganglia(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(1)|urinary_tract(1)	25				GBM - Glioblastoma multiforme(265;0.0269)		AGGGGGCCTCCGGAATCCCCC	0.602																																						ENST00000216336.2																			0				autonomic_ganglia(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(1)|urinary_tract(1)	25						c.(604-606)Gga>Aga		cathepsin G							64	71	69					14																	25043007		2203	4300	6503	SO:0001583	missense	1511				immune response|proteolysis	cell surface|extracellular space|plasma membrane|stored secretory granule	heparin binding|serine-type endopeptidase activity	g.chr14:25043007C>T	M16117	CCDS9631.1	14q12	2013-02-25			ENSG00000100448	ENSG00000100448		"Cathepsins", "Endogenous ligands"	2532	protein-coding gene	gene with protein product		116830				2569462	Standard	NM_001911		Approved	CG	uc001wpq.3	P08311	OTTHUMG00000140182	ENST00000216336.2:c.604G>A	14.37:g.25043007C>T	ENSP00000216336:p.Gly202Arg						p.G202R	NM_001911.2	NP_001902.1	P08311	CATG_HUMAN		GBM - Glioblastoma multiforme(265;0.0269)	5	640	-			202			Peptidase S1.		Q6IBJ6|Q9UCA5|Q9UCU6	Missense_Mutation	SNP	ENST00000216336.2	37	c.604G>A	CCDS9631.1	.	.	.	.	.	.	.	.	.	.	C	13.43	2.234588	0.39498	.	.	ENSG00000100448	ENST00000216336	D	0.99871	-7.35	4.63	3.74	0.42951	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.37393	N	0.002113	D	0.99883	0.9944	H	0.97186	3.955	0.41292	D	0.986989	D	0.76494	0.999	D	0.75020	0.985	D	0.97050	0.9763	10	0.72032	D	0.01	.	9.3608	0.38195	0.0:0.8975:0.0:0.1025	.	202	P08311	CATG_HUMAN	R	202	ENSP00000216336:G202R	ENSP00000216336:G202R	G	-	1	0	CTSG	24112847	0.948000	0.32251	0.783000	0.31826	0.038000	0.13279	3.378000	0.52432	1.265000	0.44215	0.549000	0.68633	GGA		0.602	CTSG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276536.2	NM_001911		4	95	0	0	0	1	0	4	95					T	25043007	C	T	25043007	3	4	350	1	0	0	0	0	1	0	0	0	4035	661	23	2	167	2	CTSG	14	25043007	Missense_Mutation	SNP	C	TCGA-M7-A71Y-01A-22D-A32B-08		25043007	82306533	20	17647											
TDP1	55775	broad.mit.edu	37	chr14	90459746	90459746	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtcagctgagacttctggccGcagcaatgccatgccacata	10	8	10	13	1	2	1	1	1	1	1	2	2	2	1	3	1	4	3	3	1	2	2	rs567684858		TCGA-M7-A71Y-01A-22D-A32B-08	TCGA-M7-A71Y-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99d703ae-a5d1-4dd9-a97a-8122c6a58b25	38ab93fd-6d00-4329-92f0-ca4d05d80a11	g.chr14:90459746G>A	ENST00000335725.4	+	14	1710	c.1460G>A	c.(1459-1461)cGc>cAc	p.R487H	TDP1_ENST00000555880.1_Missense_Mutation_p.R487H|TDP1_ENST00000393452.3_Missense_Mutation_p.R487H|TDP1_ENST00000393454.2_Missense_Mutation_p.R487H|TDP1_ENST00000357382.3_Missense_Mutation_p.R248H	NM_018319.3	NP_060789.2	Q9NUW8	TYDP1_HUMAN	tyrosyl-DNA phosphodiesterase 1	487					cell death (GO:0008219)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|single strand break repair (GO:0000012)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	3'-tyrosyl-DNA phosphodiesterase activity (GO:0017005)|double-stranded DNA binding (GO:0003690)|exonuclease activity (GO:0004527)|single-stranded DNA binding (GO:0003697)			NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|prostate(1)|urinary_tract(1)	25		all_cancers(154;0.185)		COAD - Colon adenocarcinoma(157;0.23)		ACTTCTGGCCGCAGCAATGCC	0.368								Repair of DNA-protein crosslinks					G|||	1	0.000199681	0	0	5008	,	,		20298	0.001		0	False		,,,				2504	0					ENST00000335725.4																			0				NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|prostate(1)|urinary_tract(1)	25						c.(1459-1461)cGc>cAc	Repair of DNA-protein crosslinks	tyrosyl-DNA phosphodiesterase 1							93	85	88					14																	90459746		2203	4300	6503	SO:0001583	missense	55775				cell death|double-strand break repair|single strand break repair	cytoplasm|nucleus	3'-tyrosyl-DNA phosphodiesterase activity|double-stranded DNA binding|exonuclease activity|protein binding|single-stranded DNA binding	g.chr14:90459746G>A	AF182002	CCDS9888.1	14q32.11	2008-08-11				ENSG00000042088			18884	protein-coding gene	gene with protein product		607198				11839309, 12244316	Standard	XM_005267847		Approved	FLJ11090, SCAN1	uc001xxz.3	Q9NUW8		ENST00000335725.4:c.1460G>A	14.37:g.90459746G>A	ENSP00000337353:p.Arg487His					TDP1_ENST00000555880.1_Missense_Mutation_p.R487H|TDP1_ENST00000357382.3_Missense_Mutation_p.R248H|TDP1_ENST00000393454.2_Missense_Mutation_p.R487H|TDP1_ENST00000393452.3_Missense_Mutation_p.R487H	p.R487H	NM_018319.3	NP_060789.2	Q9NUW8	TYDP1_HUMAN		COAD - Colon adenocarcinoma(157;0.23)	14	1710	+		all_cancers(154;0.185)	487					Q2HXX4|Q86TV8|Q96BK7|Q9NZM7|Q9NZM8	Missense_Mutation	SNP	ENST00000335725.4	37	c.1460G>A	CCDS9888.1	.	.	.	.	.	.	.	.	.	.	G	24.0	4.485199	0.84854	.	.	ENSG00000042088	ENST00000393452;ENST00000393454;ENST00000335725;ENST00000357382;ENST00000555880	T;T;T;T;T	0.80824	-1.42;-1.42;-1.42;-1.42;-1.42	5.7	4.81	0.61882	.	0.000000	0.85682	D	0.000000	D	0.91219	0.7233	M	0.91920	3.255	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.81914	0.991;0.995;0.995;0.956;0.995	D	0.92584	0.6077	10	0.56958	D	0.05	-19.9864	14.3363	0.66592	0.0716:0.0:0.9284:0.0	.	487;487;487;248;487	G3V2F4;E7EPD8;B2RDI0;Q86TV8;Q9NUW8	.;.;.;.;TYDP1_HUMAN	H	487;487;487;248;487	ENSP00000377098:R487H;ENSP00000377099:R487H;ENSP00000337353:R487H;ENSP00000349952:R248H;ENSP00000450628:R487H	ENSP00000337353:R487H	R	+	2	0	TDP1	89529499	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	8.241000	0.89816	1.407000	0.46875	0.655000	0.94253	CGC		0.368	TDP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411239.1	NM_018319		3	39	0	0	0	1	0	3	39					A	90459746	G	A	90459746	3	1	350	1	0	0	0	0	1	0	0	0	15725	1087	38	1	1506	1	TDP1	14	90459746	Missense_Mutation	SNP	G	TCGA-M7-A71Y-01A-22D-A32B-08	65416739	90459746	16889794	21	17648											
BTBD6	90135	broad.mit.edu	37	chr14	105716611	105716611	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagcaaccagtggcggtacCgcgggcgctgcgacagcatc	8	4	15	14	5	0	0	0	0	0	0	1	1	0	0	2	3	5	5	2	3	2	1	rs61747006		TCGA-M7-A71Y-01A-22D-A32B-08	TCGA-M7-A71Y-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99d703ae-a5d1-4dd9-a97a-8122c6a58b25	38ab93fd-6d00-4329-92f0-ca4d05d80a11	g.chr14:105716611C>T	ENST00000392554.3	+	4	1357	c.1060C>T	c.(1060-1062)Cgc>Tgc	p.R354C	BRF1_ENST00000327359.3_Intron|BRF1_ENST00000379937.2_Intron|BRF1_ENST00000392557.4_5'Flank|BTBD6_ENST00000327471.3_Missense_Mutation_p.R279C|BRF1_ENST00000546474.1_Intron|BTBD6_ENST00000463376.2_Missense_Mutation_p.R279C|BRF1_ENST00000440513.3_Intron|BTBD6_ENST00000536364.1_Missense_Mutation_p.R354C|BRF1_ENST00000446501.2_5'Flank			Q96KE9	BTBD6_HUMAN	BTB (POZ) domain containing 6	354						cytoplasm (GO:0005737)				endometrium(1)|lung(3)	4		Melanoma(154;0.226)	OV - Ovarian serous cystadenocarcinoma(23;0.0163)|Epithelial(46;0.0391)	Epithelial(152;0.18)		GTGGCGGTACCGCGGGCGCTG	0.627																																						ENST00000463376.2																			0				endometrium(1)|lung(3)	4						c.(835-837)Cgc>Tgc		BTB (POZ) domain containing 6							36	38	37					14																	105716611		2202	4297	6499	SO:0001583	missense	90135					cytoplasmic mRNA processing body		g.chr14:105716611C>T	AF353674	CCDS10002.1, CCDS10002.2	14q32.33	2013-01-08			ENSG00000184887	ENSG00000184887		"BTB/POZ domain containing"	19897	protein-coding gene	gene with protein product							Standard	NM_033271		Approved	BDPL	uc010tyq.2	Q96KE9	OTTHUMG00000029887	ENST00000392554.3:c.1060C>T	14.37:g.105716611C>T	ENSP00000376337:p.Arg354Cys					BRF1_ENST00000546474.1_Intron|BRF1_ENST00000440513.3_Intron|BTBD6_ENST00000392554.3_Missense_Mutation_p.R354C|BRF1_ENST00000327359.3_Intron|BRF1_ENST00000379937.2_Intron|BTBD6_ENST00000327471.3_Missense_Mutation_p.R279C|BTBD6_ENST00000536364.1_Missense_Mutation_p.R354C	p.R279C			Q96KE9	BTBD6_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.0163)|Epithelial(46;0.0391)	Epithelial(152;0.18)	3	1376	+		Melanoma(154;0.226)	354					Q8IVQ7|Q9BR94	Missense_Mutation	SNP	ENST00000392554.3	37	c.835C>T	CCDS10002.2	.	.	.	.	.	.	.	.	.	.	C	20.8	4.046102	0.75846	.	.	ENSG00000184887	ENST00000536364;ENST00000537513;ENST00000392554;ENST00000327471	T;T;T;T	0.74947	-0.87;-0.89;-0.87;-0.76	5.03	4.15	0.48705	PHR (1);	0.000000	0.85682	D	0.000000	D	0.85444	0.5698	M	0.84219	2.685	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.85706	0.1316	10	0.51188	T	0.08	-10.0234	11.2487	0.49013	0.0:0.9098:0.0:0.0902	rs61747006	354	Q96KE9	BTBD6_HUMAN	C	354;354;354;279	ENSP00000443091:R354C;ENSP00000446223:R354C;ENSP00000376337:R354C;ENSP00000329361:R279C	ENSP00000329361:R279C	R	+	1	0	BTBD6	104787656	1.000000	0.71417	0.998000	0.56505	0.995000	0.86356	3.070000	0.50033	1.103000	0.41568	0.563000	0.77884	CGC		0.627	BTBD6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000074556.4			9	31	0	0	0	1	0	9	31					T	105716611	C	T	105716611	3	4	350	1	0	0	0	0	1	0	0	0	1545	652	23	2	1074	2	BTBD6	14	105716611	Missense_Mutation	SNP	C	TCGA-M7-A71Y-01A-22D-A32B-08	15256865	105716611	1632929	22	17649											
RSL1D1	26156	broad.mit.edu	37	chr16	11941663	11941663	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cgaatactatgaggcaaggtCctacaaaatacgtgaaaaga	18	7	9	7	2	0	3	0	2	0	1	1	4	1	3	1	2	3	1	1	2	10	4			TCGA-M7-A71Y-01A-22D-A32B-08	TCGA-M7-A71Y-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99d703ae-a5d1-4dd9-a97a-8122c6a58b25	38ab93fd-6d00-4329-92f0-ca4d05d80a11	g.chr16:11941663C>A	ENST00000571133.1	-	3	318	c.246G>T	c.(244-246)ttG>ttT	p.L82F	RSL1D1_ENST00000542106.1_5'UTR	NM_015659.2	NP_056474.2	O76021	RL1D1_HUMAN	ribosomal L1 domain containing 1	82					osteoblast differentiation (GO:0001649)|regulation of apoptotic process (GO:0042981)|regulation of cellular senescence (GO:2000772)|regulation of protein localization (GO:0032880)	membrane (GO:0016020)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(1)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|stomach(2)|urinary_tract(2)	15						GAGGCAAGGTCCTACAAAATA	0.333																																						ENST00000571133.1																			0				NS(1)|breast(1)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|stomach(2)|urinary_tract(2)	15						c.e3-1		ribosomal L1 domain containing 1							76	70	72					16																	11941663		2197	4300	6497	SO:0001630	splice_region_variant	26156				regulation of protein localization|translation	large ribosomal subunit|nucleolus	protein binding|RNA binding|structural constituent of ribosome	g.chr16:11941663C>A	AY154473	CCDS10551.1	16p13.13	2011-08-12			ENSG00000171490	ENSG00000171490			24534	protein-coding gene	gene with protein product		615874				15334068, 9859858	Standard	NM_015659		Approved	PBK1, L12, DKFZP564M182, CSIG, UTP30	uc002dbp.1	O76021	OTTHUMG00000129824	ENST00000571133.1:c.246-1G>T	16.37:g.11941663C>A						RSL1D1_ENST00000542106.1_5'UTR	p.L82_splice	NM_015659.2	NP_056474.2	O76021	RL1D1_HUMAN			3	318	-			82					B4DJ58|D3DUG7|Q2M1T7|Q6PL22|Q8IWS7|Q8WUZ1|Q9HDA9|Q9Y3Z9	Splice_Site	SNP	ENST00000571133.1	37	c.245_splice	CCDS10551.1	.	.	.	.	.	.	.	.	.	.	C	11.76	1.733336	0.30684	.	.	ENSG00000171490	ENST00000355674;ENST00000396503	T	0.45668	0.89	5.0	-0.712	0.11226	Ribosomal protein L1, 2-layer alpha/beta-sandwich (1);Ribosomal protein L1, superfamily (1);	0.261396	0.32918	N	0.005490	T	0.52273	0.1724	M	0.71036	2.16	0.80722	D	1	D;D	0.63046	0.992;0.992	D;D	0.67382	0.951;0.951	T	0.51973	-0.8637	10	0.87932	D	0	.	4.383	0.11304	0.0:0.384:0.1673:0.4487	.	82;82	Q32Q62;O76021	.;RL1D1_HUMAN	F	82	ENSP00000347897:L82F	ENSP00000347897:L82F	L	-	3	2	RSL1D1	11849164	0.805000	0.28982	0.332000	0.25469	0.017000	0.09413	0.239000	0.18023	0.227000	0.20999	0.462000	0.41574	TTG		0.333	RSL1D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252059.2	NM_015659	Missense_Mutation	6	57	1	0	0.00198382	1	0.00226722	6	57					A	11941663	C	A	11941663	5	1	350	1	0	0	0	0	0	0	1	0	13700	869	30	5	1254	5	RSL1D1	16	11941663	Splice_Site	SNP	C	TCGA-M7-A71Y-01A-22D-A32B-08		11941663	78413090	23	17650											
TEKT1	83659	broad.mit.edu	37	chr17	6716215	6716215	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cttcagcccattcttgaatgCcgtgtccaccacatcacact	9	11	5	16	1	3	1	2	1	1	0	4	1	4	1	4	0	2	0	4	0	1	3			TCGA-M7-A71Y-01A-22D-A32B-08	TCGA-M7-A71Y-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99d703ae-a5d1-4dd9-a97a-8122c6a58b25	38ab93fd-6d00-4329-92f0-ca4d05d80a11	g.chr17:6716215C>T	ENST00000338694.2	-	6	916	c.787G>A	c.(787-789)Gca>Aca	p.A263T	TEKT1_ENST00000535086.1_Missense_Mutation_p.A117T	NM_053285.1	NP_444515.1	Q969V4	TEKT1_HUMAN	tektin 1	263						cilium (GO:0005929)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)				NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)	20		Myeloproliferative disorder(207;0.0255)				TTCTTGAATGCCGTGTCCACC	0.547																																						ENST00000338694.2																			0				NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)	20						c.(787-789)Gca>Aca		tektin 1							229	188	202					17																	6716215		2203	4300	6503	SO:0001583	missense	83659				microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule		g.chr17:6716215C>T		CCDS11083.1	17p13.2	2011-05-23			ENSG00000167858	ENSG00000167858			15534	protein-coding gene	gene with protein product		609002				11606253	Standard	NM_053285		Approved		uc002gdt.3	Q969V4	OTTHUMG00000102063	ENST00000338694.2:c.787G>A	17.37:g.6716215C>T	ENSP00000341346:p.Ala263Thr					TEKT1_ENST00000535086.1_Missense_Mutation_p.A117T	p.A263T	NM_053285.1	NP_444515.1	Q969V4	TEKT1_HUMAN			6	916	-		Myeloproliferative disorder(207;0.0255)	263					D3DTM7	Missense_Mutation	SNP	ENST00000338694.2	37	c.787G>A	CCDS11083.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.123887	0.77436	.	.	ENSG00000167858	ENST00000338694;ENST00000535086	T;T	0.03413	3.94;3.94	4.79	4.79	0.61399	.	0.000000	0.85682	D	0.000000	T	0.20047	0.0482	M	0.85041	2.73	0.58432	D	0.999997	D	0.76494	0.999	D	0.78314	0.991	T	0.00995	-1.1487	10	0.39692	T	0.17	.	15.7054	0.77577	0.0:1.0:0.0:0.0	.	263	Q969V4	TEKT1_HUMAN	T	263;117	ENSP00000341346:A263T;ENSP00000444142:A117T	ENSP00000341346:A263T	A	-	1	0	TEKT1	6656939	1.000000	0.71417	0.392000	0.26245	0.677000	0.39632	4.769000	0.62300	2.375000	0.81037	0.591000	0.81541	GCA		0.547	TEKT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219867.2	NM_053285		4	138	0	0	0	1	0	4	138					T	6716215	C	T	6716215	3	4	350	1	0	0	0	0	1	0	0	0	15749	739	26	3	481	3	TEKT1	17	6716215	Missense_Mutation	SNP	C	TCGA-M7-A71Y-01A-22D-A32B-08		6716215	74478995	24	17651											
C17orf57	124989	broad.mit.edu	37	chr17	45455257	45455257	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccagaagattgtgacagacActagtagaaatggtgagaga	16	8	12	5	0	0	7	0	2	0	5	1	8	1	7	1	1	0	1	1	1	4	3			TCGA-M7-A71Y-01A-22D-A32B-08	TCGA-M7-A71Y-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99d703ae-a5d1-4dd9-a97a-8122c6a58b25	38ab93fd-6d00-4329-92f0-ca4d05d80a11	g.chr17:45455257A>G	ENST00000331493.2	+	13	1909	c.1498A>G	c.(1498-1500)Act>Gct	p.T500A	EFCAB13_ENST00000517484.1_Missense_Mutation_p.T404A	NM_152347.4	NP_689560.3	Q8IY85	EFC13_HUMAN	EF-hand calcium binding domain 13	500	EF-hand 1.					cytoplasm (GO:0005737)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)										TGTGACAGACACTAGTAGAAA	0.323																																						ENST00000331493.2																			0											c.(1498-1500)Act>Gct		EF-hand calcium binding domain 13							50	54	53					17																	45455257		2203	4297	6500	SO:0001583	missense	124989							g.chr17:45455257A>G	BC036407	CCDS11512.1, CCDS56034.1	17q21.32	2013-01-11	2012-07-20	2012-07-20	ENSG00000178852	ENSG00000178852		"EF-hand domain containing"	26864	protein-coding gene	gene with protein product			"chromosome 17 open reading frame 57"	C17orf57			Standard	NM_152347		Approved	FLJ40342	uc002iln.3	Q8IY85	OTTHUMG00000164767	ENST00000331493.2:c.1498A>G	17.37:g.45455257A>G	ENSP00000332111:p.Thr500Ala					EFCAB13_ENST00000517484.1_Missense_Mutation_p.T404A	p.T500A	NM_152347.4	NP_689560.3					13	1909	+								G3V128|Q49AG9	Missense_Mutation	SNP	ENST00000331493.2	37	c.1498A>G	CCDS11512.1	.	.	.	.	.	.	.	.	.	.	A	16.59	3.166689	0.57476	.	.	ENSG00000178852	ENST00000331493;ENST00000517484;ENST00000344176;ENST00000523842	T;T;T	0.64085	0.31;-0.08;0.92	3.39	-0.606	0.11619	EF-hand-like domain (1);	0.839255	0.10312	N	0.689840	T	0.59183	0.2175	M	0.62723	1.935	0.09310	N	1	P;P;P	0.49783	0.859;0.928;0.928	P;P;P	0.51895	0.451;0.683;0.683	T	0.48340	-0.9044	10	0.27082	T	0.32	-4.8744	0.523	0.00615	0.4291:0.2311:0.1345:0.2052	.	452;500;404	Q8N7U2;Q8IY85;G3V128	.;CQ057_HUMAN;.	A	500;404;452;26	ENSP00000332111:T500A;ENSP00000430048:T404A;ENSP00000429566:T26A	ENSP00000332111:T500A	T	+	1	0	C17orf57	42810256	0.000000	0.05858	0.000000	0.03702	0.852000	0.48524	0.511000	0.22739	-0.265000	0.09352	0.377000	0.23210	ACT		0.323	EFCAB13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000380147.4	NM_152347		3	55	0	0	0	1	0	3	55					G	45455257	A	G	45455257	3	3	350	1	0	0	0	0	1	0	0	0	1865	159	6	4	1536	4	C17orf57	17	45455257	Missense_Mutation	SNP	A	TCGA-M7-A71Y-01A-22D-A32B-08	38739042	45455257	35739953	25	17652											
C19orf44	84167	broad.mit.edu	37	chr19	16614049	16614049	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtgacaccgcctcccacacGccgtcagtttccatcacagg	9	7	8	17	3	2	1	2	1	0	0	4	1	4	1	5	1	0	1	5	1	0	1	rs146360582		TCGA-M7-A71Y-01A-22D-A32B-08	TCGA-M7-A71Y-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99d703ae-a5d1-4dd9-a97a-8122c6a58b25	38ab93fd-6d00-4329-92f0-ca4d05d80a11	g.chr19:16614049G>A	ENST00000221671.3	+	3	1089	c.933G>A	c.(931-933)acG>acA	p.T311T	CTD-3222D19.2_ENST00000409035.1_Intron|C19orf44_ENST00000594035.1_Silent_p.T311T	NM_032207.2	NP_115583.1	Q9H6X5	CS044_HUMAN	chromosome 19 open reading frame 44	311										endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|stomach(1)|urinary_tract(2)	16						CCTCCCACACGCCGTCAGTTT	0.562																																						ENST00000221671.3																			0				endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|stomach(1)|urinary_tract(2)	16						c.(931-933)acG>acA		chromosome 19 open reading frame 44		G		2,4404	4.2+/-10.8	0,2,2201	96	93	94		933	-9.3	0	19	dbSNP_134	94	0,8600		0,0,4300	no	coding-synonymous	C19orf44	NM_032207.2		0,2,6501	AA,AG,GG		0.0,0.0454,0.0154		311/658	16614049	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	84167							g.chr19:16614049G>A	AK025395	CCDS12345.1, CCDS74306.1	19p13.11	2011-11-24			ENSG00000105072	ENSG00000105072			26141	protein-coding gene	gene with protein product						12477932	Standard	NM_032207		Approved	FLJ21742	uc002neh.1	Q9H6X5		ENST00000221671.3:c.933G>A	19.37:g.16614049G>A						C19orf44_ENST00000594035.1_Silent_p.T311T|CTD-3222D19.2_ENST00000409035.1_Intron	p.T311T	NM_032207.2	NP_115583.1	Q9H6X5	CS044_HUMAN			3	1089	+			311					Q8N6Y7	Silent	SNP	ENST00000221671.3	37	c.933G>A	CCDS12345.1																																																																																				0.562	C19orf44-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000461218.1	NM_032207		7	69	0	0	0	1	0	7	69					A	16614049	G	A	16614049	2	1	350	1	0	0	0	0	0	0	0	1	1927	1074	38	1		1	C19orf44	19	16614049	Silent	SNP	G	TCGA-M7-A71Y-01A-22D-A32B-08		16614049	42514934	26	17653											
ZNF347	84671	broad.mit.edu	37	chr19	53645401	53645401	+	Frame_Shift_Del	DEL	G	G	-																															tgtgggttttgacattataaGgcatttgttgaggtggtgaa																										TCGA-M7-A71Y-01A-22D-A32B-08	TCGA-M7-A71Y-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99d703ae-a5d1-4dd9-a97a-8122c6a58b25	38ab93fd-6d00-4329-92f0-ca4d05d80a11	g.chr19:53645401delG	ENST00000334197.7	-	5	748	c.680delC	c.(679-681)cctfs	p.P227fs	ZNF347_ENST00000601804.1_Intron|ZNF347_ENST00000601469.2_Frame_Shift_Del_p.P228fs|ZNF347_ENST00000452676.2_Frame_Shift_Del_p.P228fs	NM_032584.2	NP_115973.2	Q96SE7	ZN347_HUMAN	zinc finger protein 347	227					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|prostate(3)|skin(1)	23				GBM - Glioblastoma multiforme(134;0.0179)		GACATTATAAGGCATTTGTTG	0.343																																					Melanoma(64;205 1597 17324 45721)	ENST00000452676.2																			0				endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|prostate(3)|skin(1)	23						c.(682-684)ctfs		zinc finger protein 347							108	112	111					19																	53645401		2203	4300	6503	SO:0001589	frameshift_variant	84671				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53645401delG	AY029765	CCDS33097.1, CCDS54314.1	19q13.3	2013-01-08				ENSG00000197937		"Zinc fingers, C2H2-type", "-"	16447	protein-coding gene	gene with protein product							Standard	NM_032584		Approved	ZNF1111	uc010eql.2	Q96SE7		ENST00000334197.7:c.680delC	19.37:g.53645401delG	ENSP00000334146:p.Pro227fs					ZNF347_ENST00000601804.1_Intron|ZNF347_ENST00000601469.2_Frame_Shift_Del_p.P228fs|ZNF347_ENST00000334197.7_Frame_Shift_Del_p.P227fs	p.P228fs	NM_001172674.1	NP_001166145.1	Q96SE7	ZN347_HUMAN		GBM - Glioblastoma multiforme(134;0.0179)	5	1109	-			227					B3KU77|B9EG59|G5E9N4|Q8TCN1	Frame_Shift_Del	DEL	ENST00000334197.7	37	c.683delC	CCDS33097.1																																																																																				0.343	ZNF347-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000464170.1	NM_032584		12	181						12	181	---	---	---	---	-	53645401	G	-	53645401	7	5	350	1	0	1	0	1	0	0	0	0	17858	1000	35	0	1843	0	ZNF347	19	53645401	Frame_Shift_Del	DEL	G	TCGA-M7-A71Y-01A-22D-A32B-08	37031352	53645401	5483582	27	17654											
STX16	8675	broad.mit.edu	37	chr20	57251292	57251292	+	Nonsense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gatgcttgtgattttaatatTatttgtcatcatcattgtgc	9	20	7	5	0	3	1	3	1	0	0	3	2	3	1	0	0	2	1	0	0	3	7			TCGA-M7-A71Y-01A-22D-A32B-08	TCGA-M7-A71Y-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99d703ae-a5d1-4dd9-a97a-8122c6a58b25	38ab93fd-6d00-4329-92f0-ca4d05d80a11	g.chr20:57251292T>A	ENST00000371141.4	+	9	1647	c.923T>A	c.(922-924)tTa>tAa	p.L308*	STX16_ENST00000361830.3_Nonsense_Mutation_p.L308*|STX16_ENST00000359617.4_Nonsense_Mutation_p.L255*|STX16_ENST00000361770.5_Nonsense_Mutation_p.L291*|STX16_ENST00000371132.4_Nonsense_Mutation_p.L287*|STX16_ENST00000355957.5_Nonsense_Mutation_p.L291*|STX16-NPEPL1_ENST00000530122.1_Intron|STX16_ENST00000358029.4_Nonsense_Mutation_p.L304*	NM_001001433.2	NP_001001433.1	O14662	STX16_HUMAN	syntaxin 16	308					intra-Golgi vesicle-mediated transport (GO:0006891)|intracellular protein transport (GO:0006886)|retrograde transport, endosome to Golgi (GO:0042147)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|SNARE complex (GO:0031201)	SNAP receptor activity (GO:0005484)			breast(1)|cervix(1)|large_intestine(3)|lung(9)|ovary(1)|pancreas(1)|urinary_tract(1)	17	all_lung(29;0.0175)		BRCA - Breast invasive adenocarcinoma(13;3.73e-09)|Epithelial(14;8.54e-06)|all cancers(14;6.89e-05)			ATTTTAATATTATTTGTCATC	0.443																																						ENST00000371141.4																			0				breast(1)|cervix(1)|large_intestine(3)|lung(9)|ovary(1)|pancreas(1)|urinary_tract(1)	17						c.(922-924)tTa>tAa		syntaxin 16							252	237	242					20																	57251292		2203	4300	6503	SO:0001587	stop_gained	8675				intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde transport, endosome to Golgi	Golgi membrane|integral to membrane|microsome|SNARE complex	SNAP receptor activity	g.chr20:57251292T>A	AF038897	CCDS13468.1, CCDS13469.1, CCDS46619.1, CCDS46620.1, CCDS56199.1	20q13.32	2008-07-02			ENSG00000124222	ENSG00000124222			11431	protein-coding gene	gene with protein product		603666				9464276, 9587053, 15800843	Standard	NM_003763		Approved	hsyn16, SYN16	uc002xzi.3	O14662	OTTHUMG00000033084	ENST00000371141.4:c.923T>A	20.37:g.57251292T>A	ENSP00000360183:p.Leu308*					STX16_ENST00000359617.4_Nonsense_Mutation_p.L255*|STX16-NPEPL1_ENST00000530122.1_Intron|STX16_ENST00000361770.5_Nonsense_Mutation_p.L291*|STX16_ENST00000361830.3_Nonsense_Mutation_p.L308*|STX16_ENST00000358029.4_Nonsense_Mutation_p.L304*|STX16_ENST00000371132.4_Nonsense_Mutation_p.L287*|STX16_ENST00000355957.5_Nonsense_Mutation_p.L291*	p.L308*	NM_001001433.2	NP_001001433.1	O14662	STX16_HUMAN	BRCA - Breast invasive adenocarcinoma(13;3.73e-09)|Epithelial(14;8.54e-06)|all cancers(14;6.89e-05)		9	1647	+	all_lung(29;0.0175)		308					A6NK32|A6NN69|A8MPP0|B7ZBN1|B7ZBN2|B7ZBN3|E1P5M0|E1P607|O14661|O14663|O60517|Q5W084|Q5W086|Q5W087|Q5XKI6|Q6GMS8|Q9H0Z0|Q9H1T7|Q9H1T8|Q9UIX5	Nonsense_Mutation	SNP	ENST00000371141.4	37	c.923T>A	CCDS13468.1	.	.	.	.	.	.	.	.	.	.	T	43	10.209280	0.99360	.	.	ENSG00000124222	ENST00000355957;ENST00000361770;ENST00000371141;ENST00000371138;ENST00000371132;ENST00000358029;ENST00000361830;ENST00000438253;ENST00000435446	.	.	.	5.74	5.74	0.90152	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.5232	0.75881	0.0:0.0:0.0:1.0	.	.	.	.	X	291;291;308;255;287;304;308;202;122	.	.	L	+	2	0	STX16	56684698	1.000000	0.71417	0.054000	0.19295	0.998000	0.95712	6.972000	0.76110	2.317000	0.78254	0.460000	0.39030	TTA		0.443	STX16-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000080517.2	NM_001001433		4	181	0	0	0	1	0	4	181					A	57251292	T	A	57251292	4	1	350	1	0	0	0	0	0	1	0	0	15338	1764	61	5	957	5	STX16	20	57251292	Nonsense_Mutation	SNP	T	TCGA-M7-A71Y-01A-22D-A32B-08		57251292	5774228	28	17655											
MACF1	23499	broad.mit.edu	37	chr1	39782157	39782157	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgagtcaagaagaagtagtaCtggcagatctctcagctctg	12	10	11	8	0	4	4	2	1	2	3	5	4	4	4	0	1	2	4	0	1	5	2			TCGA-M7-A71Z-01A-12D-A32B-08	TCGA-M7-A71Z-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4906782-9697-4813-942b-94c2b8463d5c	fa6e02fd-442a-4a16-8d8d-d85944432531	g.chr1:39782157C>G	ENST00000372915.3	+	27	3646	c.3559C>G	c.(3559-3561)Ctg>Gtg	p.L1187V	MACF1_ENST00000476350.1_3'UTR|MACF1_ENST00000317713.7_Missense_Mutation_p.L1187V|MACF1_ENST00000567887.1_Missense_Mutation_p.L1219V|MACF1_ENST00000361689.2_Missense_Mutation_p.L1187V|MACF1_ENST00000564288.1_Missense_Mutation_p.L1182V|MACF1_ENST00000539005.1_Missense_Mutation_p.L1187V|MACF1_ENST00000545844.1_Missense_Mutation_p.L1187V			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	1187					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			AGAAGTAGTACTGGCAGATCT	0.438																																						ENST00000564288.1																			0				breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203						c.(3544-3546)Ctg>Gtg		microtubule-actin crosslinking factor 1							178	173	175					1																	39782157		2203	4300	6503	SO:0001583	missense	23499				cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding	g.chr1:39782157C>G	AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"EF-hand domain containing"	13664	protein-coding gene	gene with protein product	"actin cross-linking factor", "620 kDa actin binding protein", "macrophin 1", "trabeculin-alpha", "actin cross-linking family protein 7"	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.3559C>G	1.37:g.39782157C>G	ENSP00000362006:p.Leu1187Val					MACF1_ENST00000317713.7_Missense_Mutation_p.L1187V|MACF1_ENST00000372915.3_Missense_Mutation_p.L1187V|MACF1_ENST00000476350.1_3'UTR|MACF1_ENST00000539005.1_Missense_Mutation_p.L1187V|MACF1_ENST00000545844.1_Missense_Mutation_p.L1187V|MACF1_ENST00000567887.1_Missense_Mutation_p.L1219V|MACF1_ENST00000361689.2_Missense_Mutation_p.L1187V	p.L1182V			Q9UPN3	MACF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)		28	4321	+	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	1187					B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Missense_Mutation	SNP	ENST00000372915.3	37	c.3544C>G		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.57|12.57	1.976382|1.976382	0.34848|0.34848	.|.	.|.	ENSG00000127603|ENSG00000127603	ENST00000545844;ENST00000372915;ENST00000361689;ENST00000317713;ENST00000539005;ENST00000524432;ENST00000530262|ENST00000372925	T;T;T;T;T;T;T|.	0.76060|.	-0.99;-0.99;-0.99;-0.99;-0.99;-0.99;-0.99|.	6.06|6.06	6.06|6.06	0.98353|0.98353	.|.	.|.	.|.	.|.	.|.	T|T	0.39759|0.39759	0.1090|0.1090	N|N	0.08118|0.08118	0|0	0.80722|0.80722	D|D	1|1	B;B;B|.	0.23735|.	0.001;0.09;0.016|.	B;B;B|.	0.23574|.	0.003;0.047;0.043|.	T|T	0.29150|0.29150	-1.0021|-1.0021	9|5	0.17832|.	T|.	0.49|.	.|.	15.3505|15.3505	0.74380|0.74380	0.1395:0.8605:0.0:0.0|0.1395:0.8605:0.0:0.0	.|.	1187;1187;1152|.	F8W8Q1;Q9UPN3-2;Q9UPN3-3|.	.;.;.|.	V|S	1187;1187;1187;1187;1187;1145;1336|320	ENSP00000439537:L1187V;ENSP00000362006:L1187V;ENSP00000354573:L1187V;ENSP00000313438:L1187V;ENSP00000444364:L1187V;ENSP00000435070:L1145V;ENSP00000437059:L1336V|.	ENSP00000313438:L1187V|.	L|T	+|+	1|2	2|0	MACF1|MACF1	39554744|39554744	0.992000|0.992000	0.36948|0.36948	0.993000|0.993000	0.49108|0.49108	0.985000|0.985000	0.73830|0.73830	4.097000|4.097000	0.57741|0.57741	2.882000|2.882000	0.98803|0.98803	0.655000|0.655000	0.94253|0.94253	CTG|ACT		0.438	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1	NM_033044		30	113	0	0	0	1	0	30	113					G	39782157	C	G	39782157	3	3	351	1	0	0	0	0	1	0	0	0	9144	564	20	5	3665	5	MACF1	1	39782157	Missense_Mutation	SNP	C	TCGA-M7-A71Z-01A-12D-A32B-08		39782157	209468464	1	17656											
GLIS1	148979	broad.mit.edu	37	chr1	53990499	53990499	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aatgggccttgacgtgcttgCggagggagctggggtctgtg	5	10	19	7	2	1	1	0	1	1	0	1	3	1	3	1	5	3	2	1	5	1	2			TCGA-M7-A71Z-01A-12D-A32B-08	TCGA-M7-A71Z-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4906782-9697-4813-942b-94c2b8463d5c	fa6e02fd-442a-4a16-8d8d-d85944432531	g.chr1:53990499C>T	ENST00000312233.2	-	5	1585	c.1019G>A	c.(1018-1020)cGc>cAc	p.R340H		NM_147193.2	NP_671726.2			GLIS family zinc finger 1											endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|skin(3)|urinary_tract(4)	24						GACGTGCTTGCGGAGGGAGCT	0.637																																						ENST00000312233.2																			0				endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|skin(3)|urinary_tract(4)	24						c.(1018-1020)cGc>cAc		GLIS family zinc finger 1							199	160	173					1																	53990499		2203	4300	6503	SO:0001583	missense	148979				negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding	g.chr1:53990499C>T	AK093474	CCDS582.1	1p32.3	2008-02-05			ENSG00000174332	ENSG00000174332		"Zinc fingers, C2H2-type"	29525	protein-coding gene	gene with protein product		610378				12042312, 14500813	Standard	NM_147193		Approved	FLJ36155	uc001cvr.1	Q8NBF1	OTTHUMG00000008079	ENST00000312233.2:c.1019G>A	1.37:g.53990499C>T	ENSP00000309653:p.Arg340His						p.R340H	NM_147193.2	NP_671726.2	Q8NBF1	GLIS1_HUMAN			5	1585	-			340						Missense_Mutation	SNP	ENST00000312233.2	37	c.1019G>A	CCDS582.1	.	.	.	.	.	.	.	.	.	.	C	24.5	4.534887	0.85812	.	.	ENSG00000174332	ENST00000312233	T	0.35789	1.29	4.2	4.2	0.49525	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.139499	0.32488	N	0.006033	T	0.54095	0.1837	L	0.45698	1.435	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.59757	-0.7394	10	0.87932	D	0	.	16.9142	0.86147	0.0:1.0:0.0:0.0	.	340	Q8NBF1	GLIS1_HUMAN	H	340	ENSP00000309653:R340H	ENSP00000309653:R340H	R	-	2	0	GLIS1	53763087	1.000000	0.71417	1.000000	0.80357	0.668000	0.39293	7.810000	0.86072	2.074000	0.62210	0.313000	0.20887	CGC		0.637	GLIS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022109.1	NM_147193		15	78	0	0	0	1	0	15	78					T	53990499	C	T	53990499	3	4	351	1	0	0	0	0	1	0	0	0	6445	768	27	1	867	1	GLIS1	1	53990499	Missense_Mutation	SNP	C	TCGA-M7-A71Z-01A-12D-A32B-08	14208342	53990499	195260122	2	17657											
WDR47	22911	broad.mit.edu	37	chr1	109553736	109553736	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctaaagcaggattcagagagCgggtcatataggcatcagct	13	8	12	8	1	3	1	3	0	0	1	3	3	3	2	0	3	3	3	0	3	4	4			TCGA-M7-A71Z-01A-12D-A32B-08	TCGA-M7-A71Z-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4906782-9697-4813-942b-94c2b8463d5c	fa6e02fd-442a-4a16-8d8d-d85944432531	g.chr1:109553736C>T	ENST00000369962.3	-	5	1154	c.932G>A	c.(931-933)cGc>cAc	p.R311H	WDR47_ENST00000357672.3_Missense_Mutation_p.R283H|WDR47_ENST00000361054.3_Missense_Mutation_p.R283H|WDR47_ENST00000369965.4_Missense_Mutation_p.R311H|WDR47_ENST00000400794.3_Missense_Mutation_p.R318H			O94967	WDR47_HUMAN	WD repeat domain 47	311					multicellular organismal development (GO:0007275)	cytoplasm (GO:0005737)|microtubule (GO:0005874)				breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	20		all_lung(203;0.00519)|all_epithelial(167;0.00611)|Lung NSC(277;0.00822)		Colorectal(144;0.0165)|Lung(183;0.0484)|COAD - Colon adenocarcinoma(174;0.128)|Epithelial(280;0.168)|all cancers(265;0.201)|LUSC - Lung squamous cell carcinoma(189;0.244)		ATTCAGAGAGCGGGTCATATA	0.453																																						ENST00000357672.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	20						c.(847-849)cGc>cAc		WD repeat domain 47							249	270	263					1																	109553736		2203	4296	6499	SO:0001583	missense	22911							g.chr1:109553736C>T	AB020700	CCDS30787.1, CCDS44186.1, CCDS44187.1	1p13.3	2013-01-09			ENSG00000085433	ENSG00000085433		"WD repeat domain containing"	29141	protein-coding gene	gene with protein product		615734				10048485	Standard	NM_014969		Approved	KIAA0893	uc001dwl.3	O94967	OTTHUMG00000011734	ENST00000369962.3:c.932G>A	1.37:g.109553736C>T	ENSP00000358979:p.Arg311His					WDR47_ENST00000400794.3_Missense_Mutation_p.R318H|WDR47_ENST00000369962.3_Missense_Mutation_p.R311H|WDR47_ENST00000369965.4_Missense_Mutation_p.R311H|WDR47_ENST00000361054.3_Missense_Mutation_p.R283H	p.R283H			O94967	WDR47_HUMAN		Colorectal(144;0.0165)|Lung(183;0.0484)|COAD - Colon adenocarcinoma(174;0.128)|Epithelial(280;0.168)|all cancers(265;0.201)|LUSC - Lung squamous cell carcinoma(189;0.244)	4	1223	-		all_lung(203;0.00519)|all_epithelial(167;0.00611)|Lung NSC(277;0.00822)	311					A8MX09|Q5TYV7|Q5TYV8|Q5TYV9|Q8IXT7|Q8IYU9	Missense_Mutation	SNP	ENST00000369962.3	37	c.848G>A	CCDS44187.1	.	.	.	.	.	.	.	.	.	.	C	26.7	4.760094	0.89932	.	.	ENSG00000085433	ENST00000400794;ENST00000369962;ENST00000361054;ENST00000369965;ENST00000357672	T;T;T;T;T	0.62941	0.01;0.05;-0.01;0.0;-0.01	5.33	5.33	0.75918	.	0.000000	0.85682	D	0.000000	T	0.74207	0.3686	L	0.61218	1.895	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;1.0;0.999	D;D;D;D	0.83275	0.994;0.996;0.996;0.994	T	0.76929	-0.2777	10	0.87932	D	0	2.1548	19.0191	0.92906	0.0:1.0:0.0:0.0	.	283;318;311;311	O94967-2;A8MX09;O94967;O94967-3	.;.;WDR47_HUMAN;.	H	318;311;283;311;283	ENSP00000383599:R318H;ENSP00000358979:R311H;ENSP00000354339:R283H;ENSP00000358982:R311H;ENSP00000350301:R283H	ENSP00000350301:R283H	R	-	2	0	WDR47	109355259	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	7.487000	0.81328	2.479000	0.83701	0.467000	0.42956	CGC		0.453	WDR47-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000032414.2	NM_014969		5	300	0	0	0	1	0	5	300					T	109553736	C	T	109553736	3	4	351	1	0	0	0	0	1	0	0	0	17297	768	27	1	1874	1	WDR47	1	109553736	Missense_Mutation	SNP	C	TCGA-M7-A71Z-01A-12D-A32B-08	55563237	109553736	139696885	3	17658											
SLC19A2	10560	broad.mit.edu	37	chr1	169439315	169439315	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	caacttgaaaatagccacagGtagagagggcccaccacaca	16	4	9	12	0	0	2	0	1	0	1	0	3	0	2	3	2	2	1	3	2	5	3			TCGA-M7-A71Z-01A-12D-A32B-08	TCGA-M7-A71Z-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4906782-9697-4813-942b-94c2b8463d5c	fa6e02fd-442a-4a16-8d8d-d85944432531	g.chr1:169439315G>A	ENST00000236137.5	-	3	1153	c.917C>T	c.(916-918)aCc>aTc	p.T306I	SLC19A2_ENST00000367804.4_Missense_Mutation_p.T105I	NM_006996.2	NP_008927.1	O60779	S19A2_HUMAN	solute carrier family 19 (thiamine transporter), member 2	306					folic acid transport (GO:0015884)|small molecule metabolic process (GO:0044281)|thiamine transport (GO:0015888)|thiamine-containing compound metabolic process (GO:0042723)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	folic acid transporter activity (GO:0008517)|thiamine transmembrane transporter activity (GO:0015234)|thiamine uptake transmembrane transporter activity (GO:0015403)			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|upper_aerodigestive_tract(1)	11	all_hematologic(923;0.208)				Thiamine(DB00152)	ATAGCCACAGGTAGAGAGGGC	0.507																																						ENST00000236137.5																			0				breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|upper_aerodigestive_tract(1)	11						c.(916-918)aCc>aTc		solute carrier family 19 (thiamine transporter), member 2							104	103	104					1																	169439315		2203	4300	6503	SO:0001583	missense	10560				thiamine-containing compound metabolic process	integral to membrane|plasma membrane	folic acid binding|folic acid transporter activity|reduced folate carrier activity|thiamine uptake transmembrane transporter activity	g.chr1:169439315G>A	AF135488	CCDS1280.1	1q23.3	2013-05-22			ENSG00000117479	ENSG00000117479		"Solute carriers"	10938	protein-coding gene	gene with protein product		603941		TRMA		9399900, 10391221	Standard	NM_006996		Approved	THTR1	uc001gge.4	O60779	OTTHUMG00000035452	ENST00000236137.5:c.917C>T	1.37:g.169439315G>A	ENSP00000236137:p.Thr306Ile					SLC19A2_ENST00000367804.3_Missense_Mutation_p.T105I|SLC19A2_ENST00000367802.3_Missense_Mutation_p.T268I	p.T306I	NM_006996.2	NP_008927.1	O60779	S19A2_HUMAN			3	1153	-	all_hematologic(923;0.208)		306					B2R9H0|B4E1X4|Q8WV87|Q9UBL7|Q9UKJ2|Q9UN31|Q9UN43	Missense_Mutation	SNP	ENST00000236137.5	37	c.917C>T	CCDS1280.1	.	.	.	.	.	.	.	.	.	.	G	27.2	4.812915	0.90707	.	.	ENSG00000117479	ENST00000236137;ENST00000367804;ENST00000367802	T;T;T	0.80824	-1.42;-1.4;-1.42	5.87	5.87	0.94306	Major facilitator superfamily domain, general substrate transporter (1);	0.096626	0.64402	D	0.000001	D	0.88644	0.6492	M	0.76574	2.34	0.45580	D	0.998523	D;D	0.89917	0.999;1.0	D;D	0.87578	0.959;0.998	D	0.86904	0.2056	9	0.46703	T	0.11	-22.7432	20.197	0.98244	0.0:0.0:1.0:0.0	.	105;306	O60779-2;O60779	.;S19A2_HUMAN	I	306;105;268	ENSP00000236137:T306I;ENSP00000356778:T105I;ENSP00000356776:T268I	ENSP00000236137:T306I	T	-	2	0	SLC19A2	167705939	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.573000	0.82421	2.776000	0.95493	0.585000	0.79938	ACC		0.507	SLC19A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086106.1	NM_006996		25	28	0	0	0	1	0	25	28					A	169439315	G	A	169439315	3	1	351	1	0	0	0	0	1	0	0	0	14429	1261	44	3	592	3	SLC19A2	1	169439315	Missense_Mutation	SNP	G	TCGA-M7-A71Z-01A-12D-A32B-08	59885579	169439315	79811306	4	17659											
CRB1	23418	broad.mit.edu	37	chr1	197390342	197390342	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catgcatccctcacttccaaGatggccagcatggattcagc	10	9	8	14	0	2	1	2	0	0	1	4	2	4	2	3	2	3	2	3	2	1	2			TCGA-M7-A71Z-01A-12D-A32B-08	TCGA-M7-A71Z-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4906782-9697-4813-942b-94c2b8463d5c	fa6e02fd-442a-4a16-8d8d-d85944432531	g.chr1:197390342G>T	ENST00000367400.3	+	6	1519	c.1384G>T	c.(1384-1386)Gat>Tat	p.D462Y	CRB1_ENST00000367399.2_Missense_Mutation_p.D350Y|CRB1_ENST00000476483.1_3'UTR|CRB1_ENST00000543483.1_Missense_Mutation_p.D161Y|CRB1_ENST00000367397.1_5'UTR|CRB1_ENST00000538660.1_Missense_Mutation_p.D462Y|CRB1_ENST00000535699.1_Missense_Mutation_p.D393Y|CRB1_ENST00000544212.1_5'UTR	NM_201253.2	NP_957705.1	P82279	CRUM1_HUMAN	crumbs family member 1, photoreceptor morphogenesis associated	462	EGF-like 11. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|eye photoreceptor cell development (GO:0042462)|plasma membrane organization (GO:0007009)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						TCACTTCCAAGATGGCCAGCA	0.483																																						ENST00000367400.3																			0				NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						c.(1384-1386)Gat>Tat		crumbs homolog 1 (Drosophila)							113	95	101					1																	197390342		2203	4300	6503	SO:0001583	missense	23418				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding	g.chr1:197390342G>T		CCDS1390.1, CCDS53454.1, CCDS58052.1, CCDS58053.1	1q31-q32.1	2014-02-06	2014-02-06		ENSG00000134376	ENSG00000134376			2343	protein-coding gene	gene with protein product		604210	"crumbs (Drosophila) homolog 1", "crumbs homolog 1 (Drosophila)"	RP12		10373321, 10508521	Standard	NM_201253		Approved	LCA8	uc001gtz.3	P82279	OTTHUMG00000035663	ENST00000367400.3:c.1384G>T	1.37:g.197390342G>T	ENSP00000356370:p.Asp462Tyr					CRB1_ENST00000535699.1_Missense_Mutation_p.D393Y|CRB1_ENST00000367397.1_5'UTR|CRB1_ENST00000538660.1_Missense_Mutation_p.D462Y|CRB1_ENST00000543483.1_Missense_Mutation_p.D161Y|CRB1_ENST00000544212.1_5'UTR|CRB1_ENST00000476483.1_3'UTR|CRB1_ENST00000367399.2_Missense_Mutation_p.D350Y	p.D462Y	NM_201253.2	NP_957705.1	P82279	CRUM1_HUMAN			6	1519	+			462			EGF-like 11.		A2A308|B7Z5T2|B9EG71|Q5K3A6|Q5TC28|Q5VUT1|Q6N027|Q8WWY0|Q8WWY1	Missense_Mutation	SNP	ENST00000367400.3	37	c.1384G>T	CCDS1390.1	.	.	.	.	.	.	.	.	.	.	G	15.18	2.755689	0.49362	.	.	ENSG00000134376	ENST00000535699;ENST00000538660;ENST00000367400;ENST00000367399;ENST00000543483;ENST00000367401	D;D;D;D;D	0.89617	-2.26;-2.26;-2.26;-2.26;-2.54	5.66	-1.07	0.09968	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);EGF (1);Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	.	.	.	.	D	0.92038	0.7477	M	0.79614	2.46	0.58432	D	0.999996	D;D;D;P;D	0.76494	0.999;0.97;0.991;0.874;0.976	D;P;P;P;D	0.74348	0.983;0.865;0.904;0.487;0.917	D	0.88511	0.3089	9	0.87932	D	0	.	6.4808	0.22061	0.5075:0.1283:0.3642:0.0	.	462;393;350;111;462	B7Z5T2;F5H0L2;P82279-3;P82279-4;P82279	.;.;.;.;CRUM1_HUMAN	Y	393;462;462;350;161;111	ENSP00000438786:D393Y;ENSP00000438091:D462Y;ENSP00000356370:D462Y;ENSP00000356369:D350Y;ENSP00000439579:D161Y	ENSP00000356369:D350Y	D	+	1	0	CRB1	195656965	0.893000	0.30496	0.188000	0.23233	0.636000	0.38137	0.431000	0.21444	-0.461000	0.06993	0.585000	0.79938	GAT		0.483	CRB1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086565.2	NM_201253		30	44	1	0	3.57733e-08	1	3.96407e-08	30	44					T	197390342	G	T	197390342	3	4	351	1	0	0	0	0	1	0	0	0	3848	942	33	5	1406	5	CRB1	1	197390342	Missense_Mutation	SNP	G	TCGA-M7-A71Z-01A-12D-A32B-08	27951027	197390342	51860279	5	17660											
RYR2	6262	broad.mit.edu	37	chr1	237957207	237957207	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcgagaaaaggaagtggcacGgaaattggaatttgatgggc	14	7	16	4	2	0	2	0	1	0	1	0	6	0	5	0	5	0	1	0	5	5	2			TCGA-M7-A71Z-01A-12D-A32B-08	TCGA-M7-A71Z-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4906782-9697-4813-942b-94c2b8463d5c	fa6e02fd-442a-4a16-8d8d-d85944432531	g.chr1:237957207G>A	ENST00000366574.2	+	95	14140	c.13823G>A	c.(13822-13824)cGg>cAg	p.R4608Q	RYR2_ENST00000542537.1_Missense_Mutation_p.R4592Q|RYR2_ENST00000360064.6_Missense_Mutation_p.R4614Q	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4608					BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GAAGTGGCACGGAAATTGGAA	0.358																																						ENST00000366574.2																			0				NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586						c.(13822-13824)cGg>cAg		ryanodine receptor 2 (cardiac)							70	66	67					1																	237957207		1809	4078	5887	SO:0001583	missense	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237957207G>A	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"Ion channels / Ryanodine receptors", "EF-hand domain containing"	10484	protein-coding gene	gene with protein product		180902	"arrhythmogenic right ventricular dysplasia 2"	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.13823G>A	1.37:g.237957207G>A	ENSP00000355533:p.Arg4608Gln					RYR2_ENST00000360064.6_Missense_Mutation_p.R4614Q|RYR2_ENST00000542537.1_Missense_Mutation_p.R4592Q	p.R4608Q	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		95	14140	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	4608					Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	c.13823G>A	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	G	36	5.660759	0.96734	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537;ENST00000536033	D;D;D	0.98178	-4.77;-4.75;-4.77	5.69	5.69	0.88448	.	0.000000	0.56097	U	0.000029	D	0.98839	0.9608	M	0.77486	2.375	0.58432	D	0.999999	D;D	0.64830	0.994;0.99	D;P	0.64144	0.922;0.462	D	0.99737	1.1014	10	0.87932	D	0	.	20.181	0.98201	0.0:0.0:1.0:0.0	.	41;4608	F5H3C7;Q92736	.;RYR2_HUMAN	Q	4608;4614;4592;41	ENSP00000355533:R4608Q;ENSP00000353174:R4614Q;ENSP00000443798:R4592Q	ENSP00000353174:R4614Q	R	+	2	0	RYR2	236023830	1.000000	0.71417	0.993000	0.49108	0.972000	0.66771	9.813000	0.99286	2.840000	0.97914	0.655000	0.94253	CGG		0.358	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		15	17	0	0	0	1	0	15	17					A	237957207	G	A	237957207	3	1	351	1	0	0	0	0	1	0	0	0	13769	1116	39	2	14201	2	RYR2	1	237957207	Missense_Mutation	SNP	G	TCGA-M7-A71Z-01A-12D-A32B-08	40566865	237957207	11293414	6	17661											
ANKRD36	375248	broad.mit.edu	37	chr2	97779509	97779509	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	aagcgggagaggtggcccacCctcatggagcgcttgtgctc	7	7	15	12	2	1	1	1	0	0	1	2	3	1	2	2	4	3	2	2	4	1	1			TCGA-M7-A71Z-01A-12D-A32B-08	TCGA-M7-A71Z-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4906782-9697-4813-942b-94c2b8463d5c	fa6e02fd-442a-4a16-8d8d-d85944432531	g.chr2:97779509C>A	ENST00000461153.2	+	1	277	c.33C>A	c.(31-33)acC>acA	p.T11T	ANKRD36_ENST00000420699.2_Silent_p.T11T			A6QL64	AN36A_HUMAN	ankyrin repeat domain 36	11										endometrium(9)|kidney(5)|liver(1)|lung(3)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23						GGTGGCCCACCCTCATGGAGC	0.552																																						ENST00000420699.2																			0				endometrium(9)|kidney(5)|liver(1)|lung(3)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23						c.(31-33)acC>acA		ankyrin repeat domain 36							87	88	88					2																	97779509		1949	4148	6097	SO:0001819	synonymous_variant	375248							g.chr2:97779509C>A	BC046186	CCDS54379.1	2q11.2	2013-09-24			ENSG00000135976	ENSG00000135976		"Ankyrin repeat domain containing"	24079	protein-coding gene	gene with protein product						12975309	Standard	NM_001164315		Approved	UNQ2430	uc010yva.2	A6QL64	OTTHUMG00000155256	ENST00000461153.2:c.33C>A	2.37:g.97779509C>A						ANKRD36_ENST00000461153.2_Silent_p.T11T	p.T11T	NM_001164315.1	NP_001157787.1	A6QL64	AN36A_HUMAN			1	277	+			11					B4E3I8|Q6UX02|Q86X62|Q9HCD1	Silent	SNP	ENST00000461153.2	37	c.33C>A	CCDS54379.1																																																																																				0.552	ANKRD36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339154.5			6	108	1	0	0.0215528	1	0.0220916	6	108					A	97779509	C	A	97779509	2	1	351	1	0	0	0	0	0	0	0	1	665	610	22	5		5	ANKRD36	2	97779509	Silent	SNP	C	TCGA-M7-A71Z-01A-12D-A32B-08		97779509	145419864	7	17662											
PSD4	23550	broad.mit.edu	37	chr2	113942610	113942610	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ctgggaatcaggatgtgtcgGatctgatcttggccctgctg	6	12	14	9	1	3	1	1	1	2	0	4	4	3	4	1	4	1	1	1	4	1	1			TCGA-M7-A71Z-01A-12D-A32B-08	TCGA-M7-A71Z-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4906782-9697-4813-942b-94c2b8463d5c	fa6e02fd-442a-4a16-8d8d-d85944432531	g.chr2:113942610G>T	ENST00000245796.6	+	3	1328	c.1133G>T	c.(1132-1134)gGa>gTa	p.G378V	PSD4_ENST00000441564.3_Missense_Mutation_p.G378V	NM_012455.2	NP_036587.2	Q8NDX1	PSD4_HUMAN	pleckstrin and Sec7 domain containing 4	378					neuron differentiation (GO:0030182)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|phospholipid binding (GO:0005543)			cervix(1)|endometrium(2)|large_intestine(4)|lung(13)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						ggatgtgtcggatctgatctt	0.537																																						ENST00000245796.6																			0				cervix(1)|endometrium(2)|large_intestine(4)|lung(13)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(1132-1134)gGa>gTa		pleckstrin and Sec7 domain containing 4							244	212	223					2																	113942610		2203	4300	6503	SO:0001583	missense	23550				regulation of ARF protein signal transduction	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity	g.chr2:113942610G>T	U63127	CCDS33276.1	2q13	2013-01-10			ENSG00000125637	ENSG00000125637		"Pleckstrin homology (PH) domain containing"	19096	protein-coding gene	gene with protein product		614442				12082148	Standard	XM_005263634		Approved	TIC, EFA6B	uc002tjc.3	Q8NDX1	OTTHUMG00000153339	ENST00000245796.6:c.1133G>T	2.37:g.113942610G>T	ENSP00000245796:p.Gly378Val					PSD4_ENST00000441564.2_Missense_Mutation_p.G378V	p.G378V	NM_012455.2	NP_036587.2	Q8NDX1	PSD4_HUMAN			3	1328	+			378					A6NEG7|A8K1Y0|O95621|Q4ZG34|Q6GPH8|Q8IYP4	Missense_Mutation	SNP	ENST00000245796.6	37	c.1133G>T	CCDS33276.1	.	.	.	.	.	.	.	.	.	.	G	13.49	2.252915	0.39797	.	.	ENSG00000125637	ENST00000245796;ENST00000441564	T;T	0.11821	2.86;2.74	4.28	-1.17	0.09648	.	2.324060	0.01686	N	0.026413	T	0.11623	0.0283	N	0.24115	0.695	0.09310	N	0.999996	P;P	0.51351	0.944;0.906	P;B	0.44811	0.461;0.272	T	0.14448	-1.0472	10	0.54805	T	0.06	.	4.8572	0.13564	0.3757:0.1491:0.4752:0.0	.	378;378	Q8NDX1-2;Q8NDX1	.;PSD4_HUMAN	V	378	ENSP00000245796:G378V;ENSP00000413997:G378V	ENSP00000245796:G378V	G	+	2	0	PSD4	113659081	0.000000	0.05858	0.000000	0.03702	0.017000	0.09413	-0.416000	0.07097	-0.380000	0.07894	-0.269000	0.10298	GGA		0.537	PSD4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000330789.1	NM_012455		82	93	1	0	1.59627e-33	1	1.92491e-33	82	93					T	113942610	G	T	113942610	3	4	351	1	0	0	0	0	1	0	0	0	12649	1174	41	5	1139	5	PSD4	2	113942610	Missense_Mutation	SNP	G	TCGA-M7-A71Z-01A-12D-A32B-08	16163101	113942610	129256763	8	17663											
CLASP1	23332	broad.mit.edu	37	chr2	122144788	122144788	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gggagggcgtccggccaatcGtattgcttggagagccctgg	6	8	17	10	3	0	1	0	0	0	1	2	3	1	2	3	5	2	2	3	5	2	3			TCGA-M7-A71Z-01A-12D-A32B-08	TCGA-M7-A71Z-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4906782-9697-4813-942b-94c2b8463d5c	fa6e02fd-442a-4a16-8d8d-d85944432531	g.chr2:122144788G>A	ENST00000263710.4	-	32	3673	c.3284C>T	c.(3283-3285)aCg>aTg	p.T1095M	CLASP1_ENST00000409078.3_Missense_Mutation_p.T1067M|CLASP1_ENST00000545861.1_Missense_Mutation_p.T841M|CLASP1_ENST00000455322.2_Missense_Mutation_p.T1090M|CLASP1_ENST00000541859.1_Missense_Mutation_p.T851M|CLASP1_ENST00000397587.3_Missense_Mutation_p.T1074M|CLASP1_ENST00000541377.1_Missense_Mutation_p.T1073M	NM_015282.2	NP_056097.1	Q7Z460	CLAP1_HUMAN	cytoplasmic linker associated protein 1	1095					axon guidance (GO:0007411)|cell division (GO:0051301)|establishment of spindle orientation (GO:0051294)|establishment or maintenance of cell polarity (GO:0007163)|exit from mitosis (GO:0010458)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule anchoring (GO:0034453)|microtubule bundle formation (GO:0001578)|microtubule cytoskeleton organization (GO:0000226)|microtubule nucleation (GO:0007020)|microtubule organizing center organization (GO:0031023)|mitotic cell cycle (GO:0000278)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of microtubule polymerization or depolymerization (GO:0031111)	cell cortex (GO:0005938)|centrosomal corona (GO:0031592)|centrosome (GO:0005813)|cortical microtubule cytoskeleton (GO:0030981)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|kinetochore (GO:0000776)|kinetochore microtubule (GO:0005828)|membrane (GO:0016020)|spindle microtubule (GO:0005876)	kinetochore binding (GO:0043515)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)			NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)	47	Renal(3;0.0496)					CCGGCCAATCGTATTGCTTGG	0.522																																						ENST00000263710.4																			0				NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)	47						c.(3283-3285)aCg>aTg		cytoplasmic linker associated protein 1							38	41	40					2																	122144788		1937	4129	6066	SO:0001583	missense	23332				axon guidance|cell division|establishment or maintenance of cell polarity|exit from mitosis|G2/M transition of mitotic cell cycle|microtubule anchoring|microtubule bundle formation|microtubule nucleation|microtubule organizing center organization|mitotic prometaphase|negative regulation of microtubule depolymerization	centrosomal corona|condensed chromosome kinetochore|cortical microtubule cytoskeleton|cytoplasmic microtubule|cytosol|Golgi apparatus|kinetochore microtubule	kinetochore binding|microtubule plus-end binding	g.chr2:122144788G>A	AB014522		2q14.2-q14.3	2013-01-18			ENSG00000074054	ENSG00000074054			17088	protein-coding gene	gene with protein product	"multiple asters 1"	605852				9734811, 10899121, 16914514	Standard	NM_015282		Approved	KIAA0622, MAST1	uc002tnc.3	Q7Z460	OTTHUMG00000153331	ENST00000263710.4:c.3284C>T	2.37:g.122144788G>A	ENSP00000263710:p.Thr1095Met					CLASP1_ENST00000541859.1_Missense_Mutation_p.T851M|CLASP1_ENST00000409078.3_Missense_Mutation_p.T1067M|CLASP1_ENST00000455322.2_Missense_Mutation_p.T1090M|CLASP1_ENST00000541377.1_Missense_Mutation_p.T1073M|CLASP1_ENST00000545861.1_Missense_Mutation_p.T841M|CLASP1_ENST00000397587.3_Missense_Mutation_p.T1074M	p.T1095M	NM_015282.2	NP_056097.1	Q7Z460	CLAP1_HUMAN			32	3673	-	Renal(3;0.0496)		1095					B7ZLX3|O75118|Q2KHQ9|Q5H9P0|Q8N5B8|Q9BQT5	Missense_Mutation	SNP	ENST00000263710.4	37	c.3284C>T		.	.	.	.	.	.	.	.	.	.	G	28.8	4.954278	0.92726	.	.	ENSG00000074054	ENST00000263710;ENST00000455322;ENST00000397587;ENST00000541377;ENST00000541859;ENST00000409078;ENST00000545861	T;T;T;T;T;T	0.47528	2.14;2.15;2.16;2.16;0.84;2.16	6.04	6.04	0.98038	Armadillo-type fold (1);	0.043116	0.85682	D	0.000000	T	0.59500	0.2198	L	0.29908	0.895	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;0.998;1.0	P;P;P;D	0.65874	0.877;0.897;0.791;0.939	T	0.59172	-0.7504	10	0.62326	D	0.03	-22.7208	20.5948	0.99439	0.0:0.0:1.0:0.0	.	1067;1074;1075;1095	E7EUA5;F5GWS0;A2RU21;Q7Z460	.;.;.;CLAP1_HUMAN	M	1095;1090;1074;1073;851;1067;841	ENSP00000263710:T1095M;ENSP00000389372:T1090M;ENSP00000380717:T1074M;ENSP00000441625:T1073M;ENSP00000441770:T851M;ENSP00000386442:T1067M	ENSP00000263710:T1095M	T	-	2	0	CLASP1	121861258	1.000000	0.71417	0.993000	0.49108	0.983000	0.72400	9.491000	0.97954	2.873000	0.98535	0.563000	0.77884	ACG		0.522	CLASP1-201	KNOWN	basic	protein_coding	protein_coding		NM_015282		11	5	0	0	0	1	0	11	5					A	122144788	G	A	122144788	3	1	351	1	0	0	0	0	1	0	0	0	3454	1145	40	1	1368	1	CLASP1	2	122144788	Missense_Mutation	SNP	G	TCGA-M7-A71Z-01A-12D-A32B-08	8202178	122144788	121054585	9	17664											
UBXN4	23190	broad.mit.edu	37	chr2	136537785	136537785	+	Frame_Shift_Del	DEL	T	T	-																															actgcatccattgtacactcTtccagcggagacatttggac																										TCGA-M7-A71Z-01A-12D-A32B-08	TCGA-M7-A71Z-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4906782-9697-4813-942b-94c2b8463d5c	fa6e02fd-442a-4a16-8d8d-d85944432531	g.chr2:136537785delT	ENST00000272638.9	+	12	1529	c.1218delT	c.(1216-1218)tctfs	p.S408fs	UBXN4_ENST00000490163.1_3'UTR	NM_014607.3	NP_055422.1	Q92575	UBXN4_HUMAN	UBX domain protein 4	408					response to unfolded protein (GO:0006986)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleus (GO:0005634)				NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	24						TTGTACACTCTTCCAGCGGAG	0.428																																						ENST00000272638.9																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	24						c.(1216-1218)tcfs		UBX domain protein 4							163	149	153					2																	136537785		1904	4128	6032	SO:0001589	frameshift_variant	23190				response to unfolded protein	endoplasmic reticulum membrane|nuclear envelope	protein binding	g.chr2:136537785delT	D87684	CCDS42761.1	2q21.3-q22.1	2008-07-25	2008-07-25	2008-07-25	ENSG00000144224	ENSG00000144224		"UBX domain containing"	14860	protein-coding gene	gene with protein product	"erasin"	611216	"UBX domain-containing 2", "UBX domain containing 2"	UBXDC1, UBXD2		16968747	Standard	NM_014607		Approved	KIAA0242	uc002tur.3	Q92575	OTTHUMG00000153577	ENST00000272638.9:c.1218delT	2.37:g.136537785delT	ENSP00000272638:p.Ser408fs					UBXN4_ENST00000490163.1_3'UTR	p.S408fs	NM_014607.3	NP_055422.1	Q92575	UBXN4_HUMAN			12	1529	+			408					A8K9W4|Q4ZG56|Q8IYM5	Frame_Shift_Del	DEL	ENST00000272638.9	37	c.1218delT	CCDS42761.1																																																																																				0.428	UBXN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331696.1	NM_014607		33	79						33	79	---	---	---	---	-	136537785	T	-	136537785	7	5	351	1	0	1	0	1	0	0	0	0	16913	1596	56	0	1264	0	UBXN4	2	136537785	Frame_Shift_Del	DEL	T	TCGA-M7-A71Z-01A-12D-A32B-08	14392997	136537785	106661588	10	17665											
THBS4	7060	broad.mit.edu	37	chr5	79372774	79372776	+	In_Frame_Del	DEL	TGA	TGA	-																															gatggaattggtgacgagtgTgatgatgatgatgacaatga																										TCGA-M7-A71Z-01A-12D-A32B-08	TCGA-M7-A71Z-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4906782-9697-4813-942b-94c2b8463d5c	fa6e02fd-442a-4a16-8d8d-d85944432531	g.chr5:79372774_79372776delTGA	ENST00000350881.2	+	16	2179_2181	c.1989_1991delTGA	c.(1987-1992)tgtgat>tgt	p.D668del	THBS4_ENST00000511733.1_In_Frame_Del_p.D577del|CTD-2201I18.1_ENST00000503007.1_RNA|CTD-2201I18.1_ENST00000514042.1_RNA	NM_003248.4	NP_003239.2	P35443	TSP4_HUMAN	thrombospondin 4	668					behavioral response to pain (GO:0048266)|endothelial cell-cell adhesion (GO:0071603)|myoblast migration (GO:0051451)|negative regulation of angiogenesis (GO:0016525)|positive regulation of cell division (GO:0051781)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|regulation of tissue remodeling (GO:0034103)|response to endoplasmic reticulum stress (GO:0034976)|response to unfolded protein (GO:0006986)|tissue remodeling (GO:0048771)	basement membrane (GO:0005604)|endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|sarcoplasmic reticulum (GO:0016529)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)|integrin binding (GO:0005178)			breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|stomach(3)	34		Lung NSC(167;0.00328)|all_lung(232;0.00355)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;6.3e-45)|Epithelial(54;1.77e-39)|all cancers(79;3.2e-34)		GTGACGAGTGTGATGATGATGAT	0.562																																						ENST00000350881.2																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|stomach(3)	34						c.(1987-1992)tgt>tg		thrombospondin 4																																				SO:0001651	inframe_deletion	7060				endothelial cell-cell adhesion|myoblast migration|negative regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of neutrophil chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation	basement membrane|extracellular space	calcium ion binding|heparin binding|integrin binding|structural molecule activity	g.chr5:79372774_79372776delTGA		CCDS4049.1	5q13	2008-05-15			ENSG00000113296	ENSG00000113296			11788	protein-coding gene	gene with protein product		600715				7852353	Standard	NM_003248		Approved		uc021yaw.1	P35443	OTTHUMG00000108173	ENST00000350881.2:c.1989_1991delTGA	5.37:g.79372783_79372785delTGA	ENSP00000339730:p.Asp668del					CTD-2201I18.1_ENST00000503007.1_RNA|CTD-2201I18.1_ENST00000514042.1_RNA|THBS4_ENST00000511733.1_In_Frame_Del_p.CD572del	p.CD663del	NM_003248.4	NP_003239.2	P35443	TSP4_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;6.3e-45)|Epithelial(54;1.77e-39)|all cancers(79;3.2e-34)	16	2179_2181	+		Lung NSC(167;0.00328)|all_lung(232;0.00355)|Ovarian(174;0.0261)	663					B2R909|Q86TG2	In_Frame_Del	DEL	ENST00000350881.2	37	c.1989_1991delTGA	CCDS4049.1																																																																																				0.562	THBS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226977.1			8	266						8	266	---	---	---	---	-	79372776	TGA	-	79372774	7	5	351	1	0	1	0	1	0	0	0	0	15853	1702	59	0	2051	0	THBS4	5	79372774	In_Frame_Del	DEL	TGA	TCGA-M7-A71Z-01A-12D-A32B-08		79372774	101542486	11	17666											
PCDHAC2	56134	broad.mit.edu	37	chr5	140347665	140347665	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtggctgtctacaacatcacGgtgacagccacagatggggg	10	7	14	10	1	2	2	1	1	1	1	2	2	2	2	1	4	3	1	1	4	2	1			TCGA-M7-A71Z-01A-12D-A32B-08	TCGA-M7-A71Z-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4906782-9697-4813-942b-94c2b8463d5c	fa6e02fd-442a-4a16-8d8d-d85944432531	g.chr5:140347665G>A	ENST00000289269.5	+	1	1846	c.1314G>A	c.(1312-1314)acG>acA	p.T438T	PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHAC1_ENST00000253807.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA4_ENST00000530339.1_Intron	NM_018899.5|NM_031883.2	NP_061722.1|NP_114089.1	Q9Y5I4	PCDC2_HUMAN	protocadherin alpha subfamily C, 2	438	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACAACATCACGGTGACAGCCA	0.552																																					Melanoma(190;638 2083 3390 11909 52360)	ENST00000289269.5																			0				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45						c.(1312-1314)acG>acA									91	96	94					5																	140347665		2203	4300	6503	SO:0001819	synonymous_variant	0				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	g.chr5:140347665G>A	AF152474	CCDS4242.1	5q31	2010-11-26			ENSG00000243232	ENSG00000243232		"Cadherins / Protocadherins : Clustered"	8677	other	complex locus constituent		606321				10380929	Standard	NM_031883		Approved	PCDH-ALPHA-C2		Q9Y5I4	OTTHUMG00000129607	ENST00000289269.5:c.1314G>A	5.37:g.140347665G>A						PCDHA13_ENST00000289272.2_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHAC1_ENST00000253807.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA8_ENST00000531613.1_Intron	p.T438T	NM_018899.5|NM_031883.2	NP_061722.1|NP_114089.1	Q9Y5I4	PCDC2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1846	+			438			Cadherin 4.		Q2M3V1|Q9Y5F4	Silent	SNP	ENST00000289269.5	37	c.1314G>A	CCDS4242.1																																																																																				0.552	PCDHAC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251802.2	NM_018899		8	96	0	0	0	1	0	8	96					A	140347665	G	A	140347665	2	1	351	1	0	0	0	0	0	0	0	1	11533	1103	39	2		2	PCDHAC2	5	140347665	Silent	SNP	G	TCGA-M7-A71Z-01A-12D-A32B-08	60974891	140347665	40567595	12	17667											
LARS	51520	broad.mit.edu	37	chr5	145547808	145547808	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccatacagctctatttctctTttcaacttatcagcacatgc	10	15	3	13	0	4	0	2	0	2	0	5	0	4	0	1	0	5	2	1	0	4	6			TCGA-M7-A71Z-01A-12D-A32B-08	TCGA-M7-A71Z-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4906782-9697-4813-942b-94c2b8463d5c	fa6e02fd-442a-4a16-8d8d-d85944432531	g.chr5:145547808T>G	ENST00000394434.2	-	5	481	c.315A>C	c.(313-315)aaA>aaC	p.K105N	LARS_ENST00000545646.1_Intron|LARS_ENST00000510191.1_Missense_Mutation_p.K51N|LARS_ENST00000511505.1_Intron|LARS_ENST00000274562.9_Missense_Mutation_p.K78N	NM_020117.9	NP_064502.9	Q9P2J5	SYLC_HUMAN	leucyl-tRNA synthetase	105					gene expression (GO:0010467)|leucyl-tRNA aminoacylation (GO:0006429)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|leucine-tRNA ligase activity (GO:0004823)			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)|skin(2)|stomach(8)	34			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		L-Leucine(DB00149)	CTATTTCTCTTTTCAACTTAT	0.338																																						ENST00000394434.2																			0				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)|skin(2)|stomach(8)	34						c.(313-315)aaA>aaC		leucyl-tRNA synthetase	L-Leucine(DB00149)						85	86	86					5																	145547808		2203	4300	6503	SO:0001583	missense	51520				leucyl-tRNA aminoacylation	cytosol	ATP binding|leucine-tRNA ligase activity|protein binding	g.chr5:145547808T>G	AF151026	CCDS34265.1	5q32	2012-10-02			ENSG00000133706	ENSG00000133706	6.1.1.4	"Aminoacyl tRNA synthetases / Class I"	6512	protein-coding gene	gene with protein product	"leucine tRNA ligase 1, cytoplasmic"	151350				6933703	Standard	NM_020117		Approved	HSPC192, FLJ10595, FLJ21788, LARS1, LEUS, RNTLS	uc003lnx.1	Q9P2J5	OTTHUMG00000163429	ENST00000394434.2:c.315A>C	5.37:g.145547808T>G	ENSP00000377954:p.Lys105Asn					LARS_ENST00000510191.1_Missense_Mutation_p.K51N|LARS_ENST00000511505.1_Intron|LARS_ENST00000545646.1_Intron|LARS_ENST00000274562.9_Missense_Mutation_p.K78N	p.K105N	NM_020117.9	NP_064502.9	Q9P2J5	SYLC_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		5	481	-			105					A2RRR4|A7E266|B4DJ10|Q2TU79|Q9NSE1	Missense_Mutation	SNP	ENST00000394434.2	37	c.315A>C	CCDS34265.1	.	.	.	.	.	.	.	.	.	.	T	24.8	4.573402	0.86542	.	.	ENSG00000133706	ENST00000394434;ENST00000510191;ENST00000274562;ENST00000360930	T;T;T	0.68331	-0.32;-0.29;-0.24	5.4	5.4	0.78164	Rossmann-like alpha/beta/alpha sandwich fold (1);	0.000000	0.85682	D	0.000000	T	0.81245	0.4782	M	0.78456	2.415	0.58432	D	0.999998	P;D	0.53745	0.864;0.962	B;D	0.67725	0.265;0.953	T	0.82860	-0.0248	10	0.54805	T	0.06	-4.5433	15.3854	0.74695	0.0:0.0:0.0:1.0	.	78;105	B4DER1;Q9P2J5	.;SYLC_HUMAN	N	105;51;78;105	ENSP00000377954:K105N;ENSP00000426005:K51N;ENSP00000274562:K78N	ENSP00000274562:K78N	K	-	3	2	LARS	145528001	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	2.443000	0.44881	2.189000	0.69895	0.459000	0.35465	AAA		0.338	LARS-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000373367.1	NM_020117		23	63	0	0	0	1	0	23	63					G	145547808	T	G	145547808	3	3	351	1	0	0	0	0	1	0	0	0	8634	1838	64	5	3327	5	LARS	5	145547808	Missense_Mutation	SNP	T	TCGA-M7-A71Z-01A-12D-A32B-08	5200143	145547808	35367452	13	17668											
SNAP91	9892	broad.mit.edu	37	chr6	84350856	84350856	+	Frame_Shift_Del	DEL	T	T	-																															agacactcgtgtcattctagTtagaaatcgtttgtaaattt																										TCGA-M7-A71Z-01A-12D-A32B-08	TCGA-M7-A71Z-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4906782-9697-4813-942b-94c2b8463d5c	fa6e02fd-442a-4a16-8d8d-d85944432531	g.chr6:84350856delT	ENST00000439399.2	-	8	1040	c.724delA	c.(724-726)actfs	p.T242fs	SNAP91_ENST00000369694.2_Frame_Shift_Del_p.T242fs|SNAP91_ENST00000521743.1_Frame_Shift_Del_p.T242fs|SNAP91_ENST00000195649.6_Frame_Shift_Del_p.T242fs|SNAP91_ENST00000520302.1_Frame_Shift_Del_p.T242fs|SNAP91_ENST00000521485.1_Frame_Shift_Del_p.T242fs|SNAP91_ENST00000520213.1_Frame_Shift_Del_p.T242fs|SNAP91_ENST00000437520.1_Frame_Shift_Del_p.T242fs|SNAP91_ENST00000428679.2_Frame_Shift_Del_p.T242fs	NM_014841.2	NP_055656.1	O60641	AP180_HUMAN	synaptosomal-associated protein, 91kDa	242					clathrin coat assembly (GO:0048268)|protein transport (GO:0015031)	clathrin coat (GO:0030118)|coated pit (GO:0005905)|plasma membrane (GO:0005886)	1-phosphatidylinositol binding (GO:0005545)|protein kinase binding (GO:0019901)			breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(22)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;2.91e-07)|all_hematologic(105;0.000337)|all_epithelial(107;0.0575)		BRCA - Breast invasive adenocarcinoma(397;0.0967)		GTCATTCTAGTTAGAAATCGT	0.289																																						ENST00000428679.2																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(22)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						c.(724-726)ctfs		synaptosomal-associated protein, 91kDa							53	51	52					6																	84350856		1793	4048	5841	SO:0001589	frameshift_variant	9892				clathrin coat assembly	clathrin coat|coated pit|plasma membrane	1-phosphatidylinositol binding|clathrin binding	g.chr6:84350856delT	AB014556	CCDS47455.1, CCDS56437.1, CCDS56438.1	6q15	2012-12-07	2012-12-07		ENSG00000065609	ENSG00000065609			14986	protein-coding gene	gene with protein product		607923	"synaptosomal-associated protein, 91 kDa (mouse) homolog", "synaptosomal-associated protein, 91kDa homolog (mouse)"			9734811, 12493563, 10436022	Standard	NM_014841		Approved	KIAA0656, AP180, CALM	uc003pka.3	O60641	OTTHUMG00000015114	ENST00000439399.2:c.724delA	6.37:g.84350856delT	ENSP00000400459:p.Thr242fs					SNAP91_ENST00000439399.2_Frame_Shift_Del_p.T242fs|SNAP91_ENST00000520302.1_Frame_Shift_Del_p.T242fs|SNAP91_ENST00000369694.2_Frame_Shift_Del_p.T242fs|SNAP91_ENST00000520213.1_Frame_Shift_Del_p.T242fs|SNAP91_ENST00000521743.1_Frame_Shift_Del_p.T242fs|SNAP91_ENST00000521485.1_Frame_Shift_Del_p.T242fs|SNAP91_ENST00000195649.6_Frame_Shift_Del_p.T242fs|SNAP91_ENST00000437520.1_Frame_Shift_Del_p.T242fs	p.T242fs			O60641	AP180_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.0967)	8	1317	-		all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;2.91e-07)|all_hematologic(105;0.000337)|all_epithelial(107;0.0575)	242					A8K0L7|E5RI02|Q5JX13|Q68DL9|Q6P9D3|Q9NTY7	Frame_Shift_Del	DEL	ENST00000439399.2	37	c.724delA	CCDS47455.1																																																																																				0.289	SNAP91-007	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000375296.1			2	4						2	4	---	---	---	---	-	84350856	T	-	84350856	7	5	351	1	0	1	0	1	0	0	0	0	14833	1725	60	0	2083	0	SNAP91	6	84350856	Frame_Shift_Del	DEL	T	TCGA-M7-A71Z-01A-12D-A32B-08		84350856	86764211	14	17669											
HIVEP2	3097	broad.mit.edu	37	chr6	143081568	143081568	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgaaggaaccccgtggggtaCggcgccaacattcacaggca	11	5	13	12	3	1	1	1	1	0	0	1	2	1	2	3	5	3	2	3	5	4	2	rs376862866		TCGA-M7-A71Z-01A-12D-A32B-08	TCGA-M7-A71Z-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4906782-9697-4813-942b-94c2b8463d5c	fa6e02fd-442a-4a16-8d8d-d85944432531	g.chr6:143081568C>A	ENST00000367604.1	-	8	6496	c.5857G>T	c.(5857-5859)Gta>Tta	p.V1953L	HIVEP2_ENST00000367603.2_Missense_Mutation_p.V1953L|HIVEP2_ENST00000012134.2_Missense_Mutation_p.V1953L			P31629	ZEP2_HUMAN	human immunodeficiency virus type I enhancer binding protein 2	1953					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	100				OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)		CCGTGGGGTACGGCGCCAACA	0.478																																					Esophageal Squamous(107;843 1510 13293 16805 42198)	ENST00000367603.2																			0				NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	100						c.(5857-5859)Gta>Tta		human immunodeficiency virus type I enhancer binding protein 2							98	96	97					6																	143081568		1951	4133	6084	SO:0001583	missense	3097				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:143081568C>A	M60119	CCDS43510.1	6q23-q24	2013-01-08	2001-11-28		ENSG00000010818	ENSG00000010818		"Zinc fingers, C2H2-type"	4921	protein-coding gene	gene with protein product	"c-myc intron binding protein 1"	143054	"human immunodeficiency virus type I enhancer-binding protein 2"			1733857, 2022670	Standard	NM_006734		Approved	MBP-2, HIV-EP2, MIBP1, ZAS2, Schnurri-2, ZNF40B	uc003qjd.3	P31629	OTTHUMG00000015713	ENST00000367604.1:c.5857G>T	6.37:g.143081568C>A	ENSP00000356576:p.Val1953Leu					HIVEP2_ENST00000367604.1_Missense_Mutation_p.V1953L|HIVEP2_ENST00000012134.2_Missense_Mutation_p.V1953L	p.V1953L	NM_006734.3	NP_006725.3	P31629	ZEP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)	9	6599	-			1953					Q02646|Q5THT5|Q9NS05	Missense_Mutation	SNP	ENST00000367604.1	37	c.5857G>T	CCDS43510.1	.	.	.	.	.	.	.	.	.	.	C	10.96	1.498018	0.26861	.	.	ENSG00000010818	ENST00000367604;ENST00000367603;ENST00000012134	T;T;T	0.02140	4.43;4.43;4.43	6.05	5.18	0.71444	.	0.216683	0.46758	D	0.000277	T	0.00637	0.0021	N	0.14661	0.345	0.28157	N	0.929141	B	0.20261	0.043	B	0.16289	0.015	T	0.47983	-0.9074	10	0.16896	T	0.51	-9.5347	15.2738	0.73726	0.0:0.933:0.0:0.067	.	1953	P31629	ZEP2_HUMAN	L	1953	ENSP00000356576:V1953L;ENSP00000356575:V1953L;ENSP00000012134:V1953L	ENSP00000012134:V1953L	V	-	1	0	HIVEP2	143123261	0.924000	0.31332	0.591000	0.28745	0.958000	0.62258	1.934000	0.40163	1.556000	0.49512	0.650000	0.86243	GTA		0.478	HIVEP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042495.1			26	49	1	0	2.41591e-17	1	2.83007e-17	26	49					A	143081568	C	A	143081568	3	1	351	1	0	0	0	0	1	0	0	0	7187	536	19	5	1491	5	HIVEP2	6	143081568	Missense_Mutation	SNP	C	TCGA-M7-A71Z-01A-12D-A32B-08	58730712	143081568	28033499	15	17670											
GRM1	2911	broad.mit.edu	37	chr6	146480607	146480607	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gagctttgaccgactcttgcGcaaactccgagagaggcttc	9	9	11	12	3	1	2	0	1	1	1	3	6	2	2	2	1	3	3	2	1	1	3	rs553512718		TCGA-M7-A71Z-01A-12D-A32B-08	TCGA-M7-A71Z-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4906782-9697-4813-942b-94c2b8463d5c	fa6e02fd-442a-4a16-8d8d-d85944432531	g.chr6:146480607G>A	ENST00000282753.1	+	2	1059	c.824G>A	c.(823-825)cGc>cAc	p.R275H	GRM1_ENST00000361719.2_Missense_Mutation_p.R275H|GRM1_ENST00000392299.2_Missense_Mutation_p.R275H|GRM1_ENST00000492807.2_Missense_Mutation_p.R275H|GRM1_ENST00000507907.1_Missense_Mutation_p.R275H|GRM1_ENST00000355289.4_Missense_Mutation_p.R275H			Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	275					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|cell death (GO:0008219)|cellular response to electrical stimulus (GO:0071257)|dimeric G-protein coupled receptor signaling pathway (GO:0038042)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|G-protein coupled receptor signaling pathway (GO:0007186)|locomotory behavior (GO:0007626)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of pain (GO:0019233)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|G-protein coupled receptor dimeric complex (GO:0038037)|G-protein coupled receptor homodimeric complex (GO:0038038)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)	p.R275H(1)		NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)		CGACTCTTGCGCAAACTCCGA	0.577													G|||	1	0.000199681	0	0	5008	,	,		18937	0.001		0	False		,,,				2504	0					ENST00000392299.2																			1	Substitution - Missense(1)	p.R275H(1)	large_intestine(1)	NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126						c.(823-825)cGc>cAc		glutamate receptor, metabotropic 1	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)						93	84	87					6																	146480607		2203	4300	6503	SO:0001583	missense	2911				synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	g.chr6:146480607G>A	U31215	CCDS5209.1, CCDS47497.1, CCDS64548.1	6q24	2014-06-12			ENSG00000152822	ENSG00000152822		"GPCR / Class C : Glutamate receptors, metabotropic", "Glutamate receptors"	4593	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 85"	604473				9076744, 9376535	Standard	NM_001278064		Approved	GPRC1A, mGlu1, MGLUR1, PPP1R85	uc010khw.2	Q13255	OTTHUMG00000015752	ENST00000282753.1:c.824G>A	6.37:g.146480607G>A	ENSP00000282753:p.Arg275His					GRM1_ENST00000355289.4_Missense_Mutation_p.R275H|GRM1_ENST00000282753.1_Missense_Mutation_p.R275H|GRM1_ENST00000361719.2_Missense_Mutation_p.R275H|GRM1_ENST00000507907.1_Missense_Mutation_p.R275H|GRM1_ENST00000492807.2_Missense_Mutation_p.R275H	p.R275H			Q13255	GRM1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	3	1294	+		Ovarian(120;0.0387)	275					B9EG79|F8W805|Q13256|Q14757|Q14758|Q5VTF7|Q5VTF8|Q9NU10|Q9UGS9|Q9UGT0	Missense_Mutation	SNP	ENST00000282753.1	37	c.824G>A	CCDS5209.1	.	.	.	.	.	.	.	.	.	.	G	27.5	4.838921	0.91117	.	.	ENSG00000152822	ENST00000361719;ENST00000392299;ENST00000492807;ENST00000282753;ENST00000355289;ENST00000507907	D;D;D;D;D;D	0.83419	-1.72;-1.72;-1.72;-1.72;-1.72;-1.72	5.32	5.32	0.75619	Extracellular ligand-binding receptor (1);	0.053988	0.64402	D	0.000002	D	0.82398	0.5028	L	0.53671	1.685	0.53688	D	0.999976	P;D;P;P	0.64830	0.932;0.994;0.945;0.932	P;P;P;P	0.58780	0.537;0.845;0.667;0.537	D	0.84833	0.0803	10	0.72032	D	0.01	.	9.6698	0.40006	0.1545:0.0:0.8455:0.0	.	275;275;270;275	F8W805;Q13255;Q59HC2;Q13255-2	.;GRM1_HUMAN;.;.	H	275	ENSP00000354896:R275H;ENSP00000376119:R275H;ENSP00000424095:R275H;ENSP00000282753:R275H;ENSP00000347437:R275H;ENSP00000425599:R275H	ENSP00000282753:R275H	R	+	2	0	GRM1	146522300	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.432000	0.73400	2.495000	0.84180	0.655000	0.94253	CGC		0.577	GRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042574.1	NM_000838		22	25	0	0	0	1	0	22	25					A	146480607	G	A	146480607	3	1	351	1	0	0	0	0	1	0	0	0	6796	1087	38	1	830	1	GRM1	6	146480607	Missense_Mutation	SNP	G	TCGA-M7-A71Z-01A-12D-A32B-08	3399039	146480607	24634460	16	17671											
DFNA5	1687	broad.mit.edu	37	chr7	24742404	24742404	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcacagtgtgggaatgatcTggagtttgcagcaagtgccc	9	9	15	8	0	1	1	0	1	1	0	1	3	1	3	1	3	3	4	1	3	2	1			TCGA-M7-A71Z-01A-12D-A32B-08	TCGA-M7-A71Z-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4906782-9697-4813-942b-94c2b8463d5c	fa6e02fd-442a-4a16-8d8d-d85944432531	g.chr7:24742404T>C	ENST00000342947.3	-	9	1657	c.1232A>G	c.(1231-1233)cAg>cGg	p.Q411R	DFNA5_ENST00000409970.1_Missense_Mutation_p.Q247R|DFNA5_ENST00000545231.1_Missense_Mutation_p.Q247R|DFNA5_ENST00000409775.3_Missense_Mutation_p.Q411R|DFNA5_ENST00000419307.1_Missense_Mutation_p.Q247R	NM_004403.2	NP_004394.1	O60443	DFNA5_HUMAN	deafness, autosomal dominant 5	411					apoptotic process (GO:0006915)|inner ear receptor cell differentiation (GO:0060113)|negative regulation of cell proliferation (GO:0008285)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(3)|stomach(1)	19						GGGAATGATCTGGAGTTTGCA	0.507																																					GBM(78;184 1250 20134 20900 23600)	ENST00000545231.1																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(3)|stomach(1)	19						c.(739-741)cAg>cGg		deafness, autosomal dominant 5							118	112	114					7																	24742404		2203	4300	6503	SO:0001583	missense	1687				sensory perception of sound			g.chr7:24742404T>C	AF007790	CCDS5389.1, CCDS47563.1	7p15	2011-07-01			ENSG00000105928	ENSG00000105928			2810	protein-coding gene	gene with protein product		608798				8589696, 9450185	Standard	NM_004403		Approved	ICERE-1	uc010kus.1	O60443	OTTHUMG00000023237	ENST00000342947.3:c.1232A>G	7.37:g.24742404T>C	ENSP00000339587:p.Gln411Arg					DFNA5_ENST00000409970.1_Missense_Mutation_p.Q247R|DFNA5_ENST00000409775.3_Missense_Mutation_p.Q411R|DFNA5_ENST00000342947.3_Missense_Mutation_p.Q411R|DFNA5_ENST00000419307.1_Missense_Mutation_p.Q247R	p.Q247R			O60443	DFNA5_HUMAN			11	1890	-			411					A4D156|B2RAX9|B3KT05|O14590|Q08AQ8|Q9UBV3	Missense_Mutation	SNP	ENST00000342947.3	37	c.740A>G	CCDS5389.1	.	.	.	.	.	.	.	.	.	.	T	16.74	3.207674	0.58343	.	.	ENSG00000105928	ENST00000342947;ENST00000419307;ENST00000545231;ENST00000409970;ENST00000409775;ENST00000430096	T;T;T;T;T;T	0.21031	2.03;2.03;2.03;2.03;2.03;2.03	5.86	4.71	0.59529	.	0.389053	0.28736	N	0.014304	T	0.35480	0.0933	M	0.69823	2.125	0.33598	D	0.601904	D	0.58268	0.982	P	0.57620	0.824	T	0.49399	-0.8944	10	0.22109	T	0.4	-8.3244	9.9818	0.41817	0.0:0.0777:0.0:0.9223	.	411	O60443	DFNA5_HUMAN	R	411;247;247;247;411;31	ENSP00000339587:Q411R;ENSP00000401332:Q247R;ENSP00000442661:Q247R;ENSP00000387119:Q247R;ENSP00000386670:Q411R;ENSP00000395540:Q31R	ENSP00000339587:Q411R	Q	-	2	0	DFNA5	24708929	0.776000	0.28616	0.972000	0.41901	0.553000	0.35397	1.335000	0.33839	1.156000	0.42514	0.528000	0.53228	CAG		0.507	DFNA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214060.2	NM_004403		11	73	0	0	0	1	0	11	73					C	24742404	T	C	24742404	3	2	351	1	0	0	0	0	1	0	0	0	4454	1580	55	4	266	4	DFNA5	7	24742404	Missense_Mutation	SNP	T	TCGA-M7-A71Z-01A-12D-A32B-08		24742404	134396259	17	17672											
PDE1C	5137	broad.mit.edu	37	chr7	32109962	32109962	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccggttgcaggtatttcagaGagttgctctcaaattcttca	9	14	9	9	1	4	1	3	0	2	1	5	2	4	1	1	2	2	5	1	2	2	6			TCGA-M7-A71Z-01A-12D-A32B-08	TCGA-M7-A71Z-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4906782-9697-4813-942b-94c2b8463d5c	fa6e02fd-442a-4a16-8d8d-d85944432531	g.chr7:32109962G>A	ENST00000396191.1	-	1	499	c.44C>T	c.(43-45)tCt>tTt	p.S15F	PDE1C_ENST00000396182.2_Missense_Mutation_p.S15F|PDE1C_ENST00000396184.3_Missense_Mutation_p.S15F|PDE1C_ENST00000396193.1_Intron|PDE1C_ENST00000321453.7_Missense_Mutation_p.S15F	NM_001191057.1	NP_001177986.1	Q14123	PDE1C_HUMAN	phosphodiesterase 1C, calmodulin-dependent 70kDa	15					activation of phospholipase C activity (GO:0007202)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|metabolic process (GO:0008152)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)	cytosol (GO:0005829)	calmodulin-dependent cyclic-nucleotide phosphodiesterase activity (GO:0004117)|metal ion binding (GO:0046872)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	81			GBM - Glioblastoma multiforme(11;0.216)		Caffeine(DB00201)	GTATTTCAGAGAGTTGCTCTC	0.527																																						ENST00000396184.3																			0				NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	81						c.(43-45)tCt>tTt		phosphodiesterase 1C, calmodulin-dependent 70kDa							151	154	153					7																	32109962		2203	4300	6503	SO:0001583	missense	5137				activation of phospholipase C activity|nerve growth factor receptor signaling pathway	cytosol	calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding	g.chr7:32109962G>A	U40371	CCDS5437.1, CCDS55099.1, CCDS55100.1	7p15.1-p14.3	2008-05-15	2002-08-29		ENSG00000154678	ENSG00000154678	3.1.4.17	"Phosphodiesterases"	8776	protein-coding gene	gene with protein product		602987	"phosphodiesterase 1C, calmodulin-dependent (70kD)"			8557689	Standard	XM_005249769		Approved	Hcam3	uc003tco.2	Q14123	OTTHUMG00000023836	ENST00000396191.1:c.44C>T	7.37:g.32109962G>A	ENSP00000379494:p.Ser15Phe					PDE1C_ENST00000396193.1_Intron|PDE1C_ENST00000396182.2_Missense_Mutation_p.S15F|PDE1C_ENST00000321453.7_Missense_Mutation_p.S15F|PDE1C_ENST00000396191.1_Missense_Mutation_p.S15F	p.S15F	NM_005020.2	NP_005011.1	Q14123	PDE1C_HUMAN	GBM - Glioblastoma multiforme(11;0.216)		2	248	-			15					B3KPC6|E9PE92|Q14124|Q8NB10	Missense_Mutation	SNP	ENST00000396191.1	37	c.44C>T	CCDS55099.1	.	.	.	.	.	.	.	.	.	.	G	32	5.156848	0.94686	.	.	ENSG00000154678	ENST00000396191;ENST00000321453;ENST00000396184;ENST00000396182;ENST00000396189	T;T;T;T	0.73152	-0.72;-0.72;-0.7;-0.7	4.94	4.94	0.65067	.	.	.	.	.	T	0.74114	0.3674	L	0.34521	1.04	0.43263	D	0.995204	P;D	0.61697	0.887;0.99	P;P	0.56398	0.751;0.797	T	0.77477	-0.2573	9	0.87932	D	0	.	18.3128	0.90206	0.0:0.0:1.0:0.0	.	15;15	Q14123-2;Q14123	.;PDE1C_HUMAN	F	15	ENSP00000379494:S15F;ENSP00000318105:S15F;ENSP00000379487:S15F;ENSP00000379485:S15F	ENSP00000318105:S15F	S	-	2	0	PDE1C	32076487	1.000000	0.71417	1.000000	0.80357	0.878000	0.50629	9.459000	0.97638	2.706000	0.92434	0.655000	0.94253	TCT		0.527	PDE1C-006	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000328458.1			36	57	0	0	0	1	0	36	57					A	32109962	G	A	32109962	3	1	351	1	0	0	0	0	1	0	0	0	11635	942	33	3	1928	3	PDE1C	7	32109962	Missense_Mutation	SNP	G	TCGA-M7-A71Z-01A-12D-A32B-08	7367558	32109962	127028701	18	17673											
MRPS24	64951	broad.mit.edu	37	chr7	43906439	43906439	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gacaactgcctcaggaccacGgcacagatctccaactggtt	11	7	9	14	1	2	1	1	0	1	1	3	3	2	2	3	3	3	2	3	3	2	1	rs191738193		TCGA-M7-A71Z-01A-12D-A32B-08	TCGA-M7-A71Z-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4906782-9697-4813-942b-94c2b8463d5c	fa6e02fd-442a-4a16-8d8d-d85944432531	g.chr7:43906439G>A	ENST00000317534.5	-	4	424	c.363C>T	c.(361-363)gcC>gcT	p.A121A	URGCP-MRPS24_ENST00000603700.1_3'UTR|MRPS24_ENST00000467084.1_5'UTR	NM_032014.2	NP_114403.1	Q96EL2	RT24_HUMAN	mitochondrial ribosomal protein S24	121					translation (GO:0006412)	mitochondrial large ribosomal subunit (GO:0005762)|mitochondrial small ribosomal subunit (GO:0005763)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	5						TCAGGACCACGGCACAGATCT	0.527													G|||	1	0.000199681	0	0	5008	,	,		19118	0		0.001	False		,,,				2504	0					ENST00000317534.5																			0				large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	5						c.(361-363)gcC>gcT		mitochondrial ribosomal protein S24		G	,	1,4405	2.1+/-5.4	0,1,2202	79	72	75		,363	-0.5	0.9	7		75	2,8598	2.2+/-6.3	0,2,4298	no	utr-3,coding-synonymous	MRPS24,URGCP-MRPS24	NM_001204871.1,NM_032014.2	,	0,3,6500	AA,AG,GG		0.0233,0.0227,0.0231	,	,121/168	43906439	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	64951				translation	mitochondrial large ribosomal subunit|mitochondrial small ribosomal subunit	protein binding|structural constituent of ribosome	g.chr7:43906439G>A	AB061207	CCDS5473.1	7p14	2012-09-13			ENSG00000062582	ENSG00000062582		"Mitochondrial ribosomal proteins / small subunits"	14510	protein-coding gene	gene with protein product		611986				8127713, 11279123	Standard	NM_032014		Approved	MRP-S24, HSPC335	uc003tit.1	Q96EL2	OTTHUMG00000023175	ENST00000317534.5:c.363C>T	7.37:g.43906439G>A						RP5-1165K10.1_ENST00000603700.1_3'UTR|MRPS24_ENST00000467084.1_5'UTR	p.A121A	NM_032014.2	NP_114403.1	Q96EL2	RT24_HUMAN			4	424	-			121					A4D1U9|P82668|Q96Q23|Q9P047	Silent	SNP	ENST00000317534.5	37	c.363C>T	CCDS5473.1																																																																																				0.527	MRPS24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250949.1	NM_032014		3	52	0	0	0	1	0	3	52					A	43906439	G	A	43906439	2	1	351	1	0	0	0	0	0	0	0	1	9835	1103	39	2		2	MRPS24	7	43906439	Silent	SNP	G	TCGA-M7-A71Z-01A-12D-A32B-08	11796477	43906439	115232224	19	17674											
NCOA2	10499	broad.mit.edu	37	chr8	71126310	71126310	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ttttcagtgttccttttgggGcttaaaagaagaaacacatt	12	15	8	6	0	1	2	1	0	0	2	2	2	2	2	1	2	1	2	1	2	4	7			TCGA-M7-A71Z-01A-12D-A32B-08	TCGA-M7-A71Z-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4906782-9697-4813-942b-94c2b8463d5c	fa6e02fd-442a-4a16-8d8d-d85944432531	g.chr8:71126310G>A	ENST00000452400.2	-	4	268	c.87C>T	c.(85-87)agC>agT	p.S29S		NM_006540.2	NP_006531.1	Q15596	NCOA2_HUMAN	nuclear receptor coactivator 2	29	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				cellular lipid metabolic process (GO:0044255)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of glucose metabolic process (GO:0010906)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	chromatin binding (GO:0003682)|histone acetyltransferase activity (GO:0004402)|ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nuclear hormone receptor binding (GO:0035257)|signal transducer activity (GO:0004871)|thyroid hormone receptor coactivator activity (GO:0030375)|transcription coactivator activity (GO:0003713)		PAX3/NCOA2(4)|HEY1/NCOA2(10)	NS(1)|breast(4)|endometrium(7)|kidney(4)|large_intestine(10)|lung(25)|ovary(1)|pancreas(2)|prostate(2)|skin(4)	60	Breast(64;0.201)		Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606)			TCCTTTTGGGGCTTAAAAGAA	0.274			T	"RUNXBP2, HEY1"	"AML, Chondrosarcoma"																																	ENST00000452400.2				Dom	yes		8	8q13.1	10499	T	nuclear receptor coactivator 2 (TIF2)			L	"RUNXBP2, HEY1"		"AML, Chondrosarcoma"	PAX3/NCOA2(4)|HEY1/NCOA2(10)	0				NS(1)|breast(4)|endometrium(7)|kidney(4)|large_intestine(10)|lung(25)|ovary(1)|pancreas(2)|prostate(2)|skin(4)	60						c.e4-1		nuclear receptor coactivator 2							105	96	99					8																	71126310		1791	4054	5845	SO:0001630	splice_region_variant	10499				cellular lipid metabolic process|transcription, DNA-dependent	nucleoplasm	histone acetyltransferase activity|ligand-dependent nuclear receptor binding|nuclear hormone receptor binding|signal transducer activity	g.chr8:71126310G>A	X97674	CCDS47872.1	8q13.3	2011-07-01			ENSG00000140396	ENSG00000140396		"Chromatin-modifying enzymes / K-acetyltransferases", "Basic helix-loop-helix proteins"	7669	protein-coding gene	gene with protein product		601993				9111344, 8670870	Standard	XM_005251128		Approved	TIF2, GRIP1, NCoA-2, KAT13C, bHLHe75	uc003xyn.1	Q15596	OTTHUMG00000164671	ENST00000452400.2:c.87-1C>T	8.37:g.71126310G>A							p.S29_splice	NM_006540.2	NP_006531.1	Q15596	NCOA2_HUMAN	Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606)		4	268	-	Breast(64;0.201)		29					Q14CD2	Splice_Site	SNP	ENST00000452400.2	37	c.86_splice	CCDS47872.1																																																																																				0.274	NCOA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379696.1		Silent	7	36	0	0	0	1	0	7	36					A	71126310	G	A	71126310	5	1	351	1	0	0	0	0	0	0	1	0	10229	1217	42	3	4387	3	NCOA2	8	71126310	Splice_Site	SNP	G	TCGA-M7-A71Z-01A-12D-A32B-08		71126310	75237712	20	17675											
DDX21	9188	broad.mit.edu	37	chr10	70728789	70728789	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aacttgccctcattgggtatTtaatgttgccaagaaataca	13	13	7	8	0	1	1	1	0	0	1	1	1	1	1	2	1	4	2	2	1	6	7			TCGA-M7-A71Z-01A-12D-A32B-08	TCGA-M7-A71Z-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4906782-9697-4813-942b-94c2b8463d5c	fa6e02fd-442a-4a16-8d8d-d85944432531	g.chr10:70728789T>C	ENST00000354185.4	+	7	1246	c.1148T>C	c.(1147-1149)tTt>tCt	p.F383S	RN7SL373P_ENST00000577512.1_RNA	NM_001256910.1|NM_004728.3	NP_001243839.1|NP_004719.2	Q9NR30	DDX21_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 21	383	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				ATP catabolic process (GO:0006200)|osteoblast differentiation (GO:0001649)|response to exogenous dsRNA (GO:0043330)|response to virus (GO:0009615)	membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	20						CATTGGGTATTTAATGTTGCC	0.358																																						ENST00000354185.4																			0				breast(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	20						c.(1147-1149)tTt>tCt		DEAD (Asp-Glu-Ala-Asp) box helicase 21							124	123	124					10																	70728789		2203	4300	6503	SO:0001583	missense	9188					nucleolus	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding	g.chr10:70728789T>C	U41387	CCDS31211.1, CCDS73144.1	10q21	2013-05-13	2012-02-23		ENSG00000165732	ENSG00000165732		"DEAD-boxes"	2744	protein-coding gene	gene with protein product		606357	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 21", "DEAD (Asp-Glu-Ala-Asp) box polypeptide 21"			8614622, 18180292	Standard	NM_004728		Approved	RH-II/GU, GURDB	uc001jov.2	Q9NR30	OTTHUMG00000018366	ENST00000354185.4:c.1148T>C	10.37:g.70728789T>C	ENSP00000346120:p.Phe383Ser						p.F383S	NM_001256910.1|NM_004728.3	NP_001243839.1|NP_004719.2	Q9NR30	DDX21_HUMAN			7	1246	+			383			Helicase ATP-binding.		B2RDL0|Q13436|Q5VX41|Q68D35	Missense_Mutation	SNP	ENST00000354185.4	37	c.1148T>C	CCDS31211.1	.	.	.	.	.	.	.	.	.	.	T	15.73	2.919011	0.52546	.	.	ENSG00000165732	ENST00000354185	T	0.04654	3.58	5.77	-4.83	0.03161	DEAD-like helicase (2);	0.162448	0.56097	D	0.000026	T	0.01454	0.0047	N	0.00504	-1.425	0.32030	N	0.599623	B	0.09022	0.002	B	0.15052	0.012	T	0.38023	-0.9680	10	0.28530	T	0.3	-39.5218	16.4155	0.83732	0.8446:0.0:0.0:0.1554	.	383	Q9NR30	DDX21_HUMAN	S	383	ENSP00000346120:F383S	ENSP00000346120:F383S	F	+	2	0	DDX21	70398795	1.000000	0.71417	0.506000	0.27664	0.998000	0.95712	2.071000	0.41500	-0.581000	0.05937	0.533000	0.62120	TTT		0.358	DDX21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048374.1	NM_004728		3	93	0	0	0	1	0	3	93					C	70728789	T	C	70728789	3	2	351	1	0	0	0	0	1	0	0	0	4349	1841	64	4	1174	4	DDX21	10	70728789	Missense_Mutation	SNP	T	TCGA-M7-A71Z-01A-12D-A32B-08		70728789	64805958	21	17676											
OR5AR1	219493	broad.mit.edu	37	chr11	56431734	56431734	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttggccctctcttgctcagaCacctacatcagtgagatctt	8	13	7	13	0	4	2	2	1	2	2	5	3	4	2	2	1	2	1	2	1	1	4			TCGA-M7-A71Z-01A-12D-A32B-08	TCGA-M7-A71Z-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4906782-9697-4813-942b-94c2b8463d5c	fa6e02fd-442a-4a16-8d8d-d85944432531	g.chr11:56431734C>T	ENST00000302969.2	+	1	597	c.573C>T	c.(571-573)gaC>gaT	p.D191D		NM_001004730.1	NP_001004730.1	Q8NGP9	O5AR1_HUMAN	olfactory receptor, family 5, subfamily AR, member 1 (gene/pseudogene)	191						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(12)|prostate(1)|skin(3)|stomach(1)	26						CTTGCTCAGACACCTACATCA	0.458																																						ENST00000302969.2																			0				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(12)|prostate(1)|skin(3)|stomach(1)	26						c.(571-573)gaC>gaT		olfactory receptor, family 5, subfamily AR, member 1 (gene/pseudogene)							198	172	181					11																	56431734		2201	4296	6497	SO:0001819	synonymous_variant	219493				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56431734C>T	AB065740	CCDS31535.1	11q11	2013-10-10	2013-10-10		ENSG00000172459	ENSG00000172459		"GPCR / Class A : Olfactory receptors"	15260	protein-coding gene	gene with protein product			"olfactory receptor, family 5, subfamily AR, member 1"				Standard	NM_001004730		Approved		uc010rjm.2	Q8NGP9	OTTHUMG00000154213	ENST00000302969.2:c.573C>T	11.37:g.56431734C>T							p.D191D	NM_001004730.1	NP_001004730.1	Q8NGP9	O5AR1_HUMAN			1	597	+			191					Q6IF61	Silent	SNP	ENST00000302969.2	37	c.573C>T	CCDS31535.1																																																																																				0.458	OR5AR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334434.1	NM_001004730		12	123	0	0	0	1	0	12	123					T	56431734	C	T	56431734	2	4	351	1	0	0	0	0	0	0	0	1	11145	477	17	3		3	OR5AR1	11	56431734	Silent	SNP	C	TCGA-M7-A71Z-01A-12D-A32B-08		56431734	78574782	22	17677											
MCAM	4162	broad.mit.edu	37	chr11	119182607	119182607	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gatagccgcctcctgcctccCgtttcaggtcatgcaactga	7	10	9	15	2	2	1	2	1	0	0	4	2	4	1	5	1	4	2	5	1	2	2	rs201956849		TCGA-M7-A71Z-01A-12D-A32B-08	TCGA-M7-A71Z-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4906782-9697-4813-942b-94c2b8463d5c	fa6e02fd-442a-4a16-8d8d-d85944432531	g.chr11:119182607C>T	ENST00000264036.4	-	10	1210	c.1196G>A	c.(1195-1197)cGg>cAg	p.R399Q	MCAM_ENST00000392814.1_Missense_Mutation_p.R348Q|MCAM_ENST00000530144.2_5'Flank	NM_006500.2	NP_006491.2	P43121	MUC18_HUMAN	melanoma cell adhesion molecule	399	Ig-like C2-type 2.				anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|glomerular filtration (GO:0003094)|vascular wound healing (GO:0061042)	external side of plasma membrane (GO:0009897)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(3)|skin(1)	22		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;3.78e-05)		TCCTGCCTCCCGTTTCAGGTC	0.602																																						ENST00000392814.1																			0				breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(3)|skin(1)	22						c.(1042-1044)cGg>cAg		melanoma cell adhesion molecule							110	111	111					11																	119182607		2199	4295	6494	SO:0001583	missense	4162				anatomical structure morphogenesis|cell adhesion	integral to membrane|plasma membrane		g.chr11:119182607C>T	X68264	CCDS31690.1	11q23.3	2013-01-29				ENSG00000076706		"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6934	protein-coding gene	gene with protein product	"Gicerin"	155735				2602381, 10702685	Standard	XM_005271552		Approved	MUC18, CD146	uc001pwf.3	P43121		ENST00000264036.4:c.1196G>A	11.37:g.119182607C>T	ENSP00000264036:p.Arg399Gln					MCAM_ENST00000264036.4_Missense_Mutation_p.R399Q	p.R348Q			P43121	MUC18_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.78e-05)	5	1772	-		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)	399			Ig-like C2-type 2.		O95812|Q59E86|Q6PHR3|Q6ZTR2	Missense_Mutation	SNP	ENST00000264036.4	37	c.1043G>A	CCDS31690.1	.	.	.	.	.	.	.	.	.	.	C	14.19	2.460485	0.43736	.	.	ENSG00000076706	ENST00000264036;ENST00000392814	T;T	0.20738	2.05;2.05	4.73	4.73	0.59995	Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.41743	0.1172	M	0.79926	2.475	0.33688	D	0.612952	D	0.69078	0.997	P	0.59171	0.853	T	0.54337	-0.8309	9	0.28530	T	0.3	-18.3624	13.0577	0.58990	0.0:1.0:0.0:0.0	.	399	P43121	MUC18_HUMAN	Q	399;348	ENSP00000264036:R399Q;ENSP00000376561:R348Q	ENSP00000264036:R399Q	R	-	2	0	MCAM	118687817	0.044000	0.20184	0.802000	0.32245	0.169000	0.22640	1.858000	0.39408	2.438000	0.82558	0.462000	0.41574	CGG		0.602	MCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388332.2			4	107	0	0	0	1	0	4	107					T	119182607	C	T	119182607	3	4	351	1	0	0	0	0	1	0	0	0	9368	652	23	2	772	2	MCAM	11	119182607	Missense_Mutation	SNP	C	TCGA-M7-A71Z-01A-12D-A32B-08	62750873	119182607	15823909	23	17678											
NRGN	4900	broad.mit.edu	37	chr11	124615605	124615605	+	Frame_Shift_Del	DEL	C	C	-																															cggggaggcgcgggcggcggCcccagcggagactaggccag																										TCGA-M7-A71Z-01A-12D-A32B-08	TCGA-M7-A71Z-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4906782-9697-4813-942b-94c2b8463d5c	fa6e02fd-442a-4a16-8d8d-d85944432531	g.chr11:124615605delC	ENST00000284292.6	+	2	461	c.222delC	c.(220-222)ggcfs	p.G74fs	RP11-677M14.2_ENST00000531241.1_RNA|NRGN_ENST00000412681.2_Frame_Shift_Del_p.G74fs	NM_001126181.1|NM_006176.2	NP_001119653.1|NP_006167.1	Q92686	NEUG_HUMAN	neurogranin (protein kinase C substrate, RC3)	74	Collagen-like.				nervous system development (GO:0007399)|signal transduction (GO:0007165)		calmodulin binding (GO:0005516)					all_hematologic(175;0.215)	Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0214)		cgggcggcggccccAGCGGAG	0.761																																						ENST00000526916.2																			0											c.(220-222)ggfs		neurogranin (protein kinase C substrate, RC3)							3	4	3					11																	124615605		1257	2747	4004	SO:0001589	frameshift_variant	4900				nervous system development|signal transduction		calmodulin binding	g.chr11:124615605delC	X99075, X99076	CCDS8451.1	11q24	2008-02-01			ENSG00000154146	ENSG00000154146			8000	protein-coding gene	gene with protein product		602350				9143500	Standard	NM_006176		Approved	RC3	uc001qar.2	Q92686	OTTHUMG00000165928	ENST00000284292.6:c.222delC	11.37:g.124615605delC	ENSP00000284292:p.Gly74fs					RP11-677M14.2_ENST00000531241.1_RNA|NRGN_ENST00000284292.5_Frame_Shift_Del_p.G74fs|NRGN_ENST00000412681.1_Frame_Shift_Del_p.G74fs	p.G74fs			Q92686	NEUG_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0214)	2	362	+	all_hematologic(175;0.215)	Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	74			Collagen-like.			Frame_Shift_Del	DEL	ENST00000284292.6	37	c.222delC	CCDS8451.1																																																																																				0.761	NRGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387079.3	NM_006176		2	4						2	4	---	---	---	---	-	124615605	C	-	124615605	7	5	351	1	0	1	0	1	0	0	0	0	10651	726	26	0	228	0	NRGN	11	124615605	Frame_Shift_Del	DEL	C	TCGA-M7-A71Z-01A-12D-A32B-08	5432998	124615605	10390911	24	17679											
KCNA5	3741	broad.mit.edu	37	chr12	5154617	5154617	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ggcctccatgagggagctggGgctgctcatcttcttcctct	4	12	12	13	0	4	1	1	1	3	0	6	2	6	2	3	4	2	3	3	4	0	2			TCGA-M7-A71Z-01A-12D-A32B-08	TCGA-M7-A71Z-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4906782-9697-4813-942b-94c2b8463d5c	fa6e02fd-442a-4a16-8d8d-d85944432531	g.chr12:5154617G>A	ENST00000252321.3	+	1	1533	c.1304G>A	c.(1303-1305)gGg>gAg	p.G435E		NM_002234.3	NP_002225.2	P22460	KCNA5_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 5	435					atrial cardiac muscle cell action potential (GO:0086014)|membrane hyperpolarization (GO:0060081)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|negative regulation of potassium ion transport (GO:0043267)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of myoblast proliferation (GO:2000288)|potassium ion export (GO:0071435)|potassium ion homeostasis (GO:0055075)|potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of insulin secretion (GO:0050796)|regulation of membrane potential (GO:0042391)|regulation of potassium ion transport (GO:0043266)|regulation of vasoconstriction (GO:0019229)|response to hypoxia (GO:0001666)|synaptic transmission (GO:0007268)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|intracellular canaliculus (GO:0046691)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|delayed rectifier potassium channel activity (GO:0005251)|outward rectifier potassium channel activity (GO:0015271)|potassium channel inhibitor activity (GO:0019870)|protein kinase binding (GO:0019901)|scaffold protein binding (GO:0097110)|voltage-gated potassium channel activity involved in atrial cardiac muscle cell action potential repolarization (GO:0086089)			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(1)|lung(21)|ovary(5)|prostate(2)|upper_aerodigestive_tract(2)	52					Dalfampridine(DB06637)	AGGGAGCTGGGGCTGCTCATC	0.592																																						ENST00000252321.3																			0				NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(1)|lung(21)|ovary(5)|prostate(2)|upper_aerodigestive_tract(2)	52						c.(1303-1305)gGg>gAg		potassium voltage-gated channel, shaker-related subfamily, member 5							51	48	49					12																	5154617		2203	4296	6499	SO:0001583	missense	3741					Golgi apparatus|voltage-gated potassium channel complex	delayed rectifier potassium channel activity	g.chr12:5154617G>A	M83254	CCDS8536.1	12p13	2012-07-05				ENSG00000130037		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6224	protein-coding gene	gene with protein product		176267				16382104	Standard	NM_002234		Approved	Kv1.5, HK2, HPCN1	uc001qni.4	P22460		ENST00000252321.3:c.1304G>A	12.37:g.5154617G>A	ENSP00000252321:p.Gly435Glu						p.G435E	NM_002234.3	NP_002225.2	P22460	KCNA5_HUMAN			1	1533	+			435					Q4KKT8|Q4VAJ1|Q4VAJ2|Q9UDA4	Missense_Mutation	SNP	ENST00000252321.3	37	c.1304G>A	CCDS8536.1	.	.	.	.	.	.	.	.	.	.	G	19.88	3.908355	0.72868	.	.	ENSG00000130037	ENST00000252321	D	0.98567	-5.0	4.87	4.87	0.63330	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99272	0.9746	H	0.95114	3.625	0.80722	D	1	D	0.76494	0.999	D	0.81914	0.995	D	0.98853	1.0759	10	0.87932	D	0	.	17.2051	0.86915	0.0:0.0:1.0:0.0	.	435	P22460	KCNA5_HUMAN	E	435	ENSP00000252321:G435E	ENSP00000252321:G435E	G	+	2	0	KCNA5	5024878	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	9.552000	0.98115	2.536000	0.85505	0.561000	0.74099	GGG		0.592	KCNA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398925.2	NM_002234		11	23	0	0	0	1	0	11	23					A	5154617	G	A	5154617	3	1	351	1	0	0	0	0	1	0	0	0	8006	1232	43	3	1306	3	KCNA5	12	5154617	Missense_Mutation	SNP	G	TCGA-M7-A71Z-01A-12D-A32B-08		5154617	128697278	25	17680											
SLC4A8	9498	broad.mit.edu	37	chr12	51868974	51868974	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaagacgtttaagacgagccGttatttcccaaccagagtag	14	9	9	9	3	0	3	0	0	0	3	1	4	1	3	3	0	2	3	3	0	5	5			TCGA-M7-A71Z-01A-12D-A32B-08	TCGA-M7-A71Z-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4906782-9697-4813-942b-94c2b8463d5c	fa6e02fd-442a-4a16-8d8d-d85944432531	g.chr12:51868974G>A	ENST00000453097.2	+	16	2373	c.2156G>A	c.(2155-2157)cGt>cAt	p.R719H	SLC4A8_ENST00000514353.3_Missense_Mutation_p.R666H|SLC4A8_ENST00000358657.3_Missense_Mutation_p.R746H|SLC4A8_ENST00000394856.1_Missense_Mutation_p.R666H	NM_001039960.2|NM_001258401.2	NP_001035049.1|NP_001245330.1			solute carrier family 4, sodium bicarbonate cotransporter, member 8											NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(18)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(2)|urinary_tract(5)	55				BRCA - Breast invasive adenocarcinoma(357;0.15)		AAGACGAGCCGTTATTTCCCA	0.428																																						ENST00000453097.2																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(18)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(2)|urinary_tract(5)	55						c.(2155-2157)cGt>cAt		solute carrier family 4, sodium bicarbonate cotransporter, member 8							162	154	157					12																	51868974		2203	4300	6503	SO:0001583	missense	9498				bicarbonate transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity	g.chr12:51868974G>A	AB018282	CCDS44890.1, CCDS58232.1, CCDS58233.1, CCDS73470.1	12q13.13	2013-05-22			ENSG00000050438	ENSG00000050438		"Solute carriers"	11034	protein-coding gene	gene with protein product		605024				11133997	Standard	NM_001039960		Approved	NBC3	uc001rys.2	Q2Y0W8	OTTHUMG00000169489	ENST00000453097.2:c.2156G>A	12.37:g.51868974G>A	ENSP00000405812:p.Arg719His					SLC4A8_ENST00000514353.3_Missense_Mutation_p.R666H|SLC4A8_ENST00000394856.1_Missense_Mutation_p.R666H|SLC4A8_ENST00000358657.3_Missense_Mutation_p.R746H	p.R719H	NM_001039960.2|NM_001258401.2	NP_001035049.1|NP_001245330.1	Q2Y0W8	S4A8_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.15)	16	2373	+			719						Missense_Mutation	SNP	ENST00000453097.2	37	c.2156G>A	CCDS44890.1	.	.	.	.	.	.	.	.	.	.	G	15.31	2.796562	0.50208	.	.	ENSG00000050438	ENST00000358657;ENST00000453097;ENST00000394856;ENST00000319957;ENST00000514353;ENST00000551071	T;T;T;T	0.79845	-1.31;-1.31;2.59;2.59	5.56	4.45	0.53987	Bicarbonate transporter, C-terminal (1);	0.045624	0.85682	D	0.000000	T	0.74558	0.3732	L	0.49455	1.56	0.80722	D	1	B;B;B;B	0.29571	0.066;0.171;0.249;0.11	B;B;B;B	0.33196	0.019;0.021;0.159;0.073	T	0.73538	-0.3951	10	0.52906	T	0.07	.	8.522	0.33282	0.1661:0.0:0.8339:0.0	.	666;746;719;719	E7EML0;Q2Y0W8-2;Q2Y0W8;Q2Y0W8-3	.;.;S4A8_HUMAN;.	H	746;719;666;719;666;666	ENSP00000351483:R746H;ENSP00000405812:R719H;ENSP00000378325:R666H;ENSP00000442561:R666H	ENSP00000315789:R719H	R	+	2	0	SLC4A8	50155241	0.206000	0.23470	1.000000	0.80357	0.977000	0.68977	0.907000	0.28531	2.792000	0.96026	0.557000	0.71058	CGT		0.428	SLC4A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404356.1	NM_004858		7	79	0	0	0	1	0	7	79					A	51868974	G	A	51868974	3	1	351	1	0	0	0	0	1	0	0	0	14659	1145	40	1	2218	1	SLC4A8	12	51868974	Missense_Mutation	SNP	G	TCGA-M7-A71Z-01A-12D-A32B-08	46714357	51868974	81982921	26	17681											
TENC1	23371	broad.mit.edu	37	chr12	53452948	53452948	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccaccaccccccatgctctCtgtcagcagcgactcaggcc	7	7	7	20	1	3	0	2	0	1	0	5	1	4	0	6	1	3	2	6	1	0	0			TCGA-M7-A71Z-01A-12D-A32B-08	TCGA-M7-A71Z-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4906782-9697-4813-942b-94c2b8463d5c	fa6e02fd-442a-4a16-8d8d-d85944432531	g.chr12:53452948C>A	ENST00000314250.6	+	18	1813	c.1523C>A	c.(1522-1524)tCt>tAt	p.S508Y	TENC1_ENST00000379902.3_Missense_Mutation_p.S384Y|TENC1_ENST00000552570.1_Missense_Mutation_p.S508Y|TENC1_ENST00000314276.3_Missense_Mutation_p.S518Y|TENC1_ENST00000549700.1_Missense_Mutation_p.S508Y|TENC1_ENST00000451358.1_Missense_Mutation_p.S508Y|TENC1_ENST00000546602.1_Missense_Mutation_p.S508Y	NM_170754.2	NP_736610.2	Q63HR2	TENC1_HUMAN	tensin like C1 domain containing phosphatase (tensin 2)	508	Pro-rich.				cellular homeostasis (GO:0019725)|collagen metabolic process (GO:0032963)|intracellular signal transduction (GO:0035556)|kidney development (GO:0001822)|multicellular organism growth (GO:0035264)|multicellular organismal homeostasis (GO:0048871)|negative regulation of cell proliferation (GO:0008285)|response to muscle activity (GO:0014850)	focal adhesion (GO:0005925)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|phosphoprotein phosphatase activity (GO:0004721)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(19)|ovary(1)|pancreas(1)|stomach(3)	34						CCCATGCTCTCTGTCAGCAGC	0.701																																						ENST00000314250.6																			0				central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(19)|ovary(1)|pancreas(1)|stomach(3)	34						c.(1522-1524)tCt>tAt		tensin like C1 domain containing phosphatase (tensin 2)							21	27	25					12																	53452948		2197	4295	6492	SO:0001583	missense	23371				intracellular signal transduction|negative regulation of cell proliferation	focal adhesion	metal ion binding|phosphoprotein phosphatase activity|protein binding	g.chr12:53452948C>A	AF518729	CCDS8842.1, CCDS8843.1, CCDS8844.1	12q13.13	2013-02-14	2004-03-05			ENSG00000111077		"Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs", "SH2 domain containing"	19737	protein-coding gene	gene with protein product	"tensin 2"	607717	"tensin like C1 domain-containing phosphatase"				Standard	NM_015319		Approved	KIAA1075, C1-TEN, TNS2	uc001sbp.3	Q63HR2	OTTHUMG00000169730	ENST00000314250.6:c.1523C>A	12.37:g.53452948C>A	ENSP00000319684:p.Ser508Tyr					TENC1_ENST00000549700.1_Missense_Mutation_p.S508Y|TENC1_ENST00000451358.1_Missense_Mutation_p.S508Y|TENC1_ENST00000546602.1_Missense_Mutation_p.S508Y|TENC1_ENST00000314276.3_Missense_Mutation_p.S518Y|TENC1_ENST00000379902.3_Missense_Mutation_p.S384Y|TENC1_ENST00000552570.1_Missense_Mutation_p.S508Y	p.S508Y	NM_170754.2	NP_736610.2	Q63HR2	TENC1_HUMAN			18	1813	+			508			Pro-rich.		A2VDF2|A2VDF3|A2VDI8|A5PKY4|Q2NL80|Q76MW6|Q7Z5T9|Q8NFF9|Q8NFG0|Q96P25|Q9NT29|Q9UPS7	Missense_Mutation	SNP	ENST00000314250.6	37	c.1523C>A	CCDS8843.1	.	.	.	.	.	.	.	.	.	.	C	17.61	3.431388	0.62844	.	.	ENSG00000111077	ENST00000379902;ENST00000314276;ENST00000314250;ENST00000451358;ENST00000443113;ENST00000546602;ENST00000552570;ENST00000549700	D;D;D;D;D;D;D	0.95980	-3.81;-3.82;-3.82;-3.87;-3.85;-3.82;-3.85	4.74	2.89	0.33648	.	0.222696	0.38381	N	0.001713	D	0.93893	0.8046	L	0.49126	1.545	0.30891	N	0.730352	B;B;B;B	0.33171	0.4;0.4;0.132;0.207	B;B;B;B	0.43225	0.299;0.412;0.157;0.299	D	0.92878	0.6320	10	0.87932	D	0	.	8.6092	0.33793	0.0:0.8098:0.0:0.1902	.	508;508;508;518	Q63HR2-6;Q63HR2-2;Q63HR2;Q63HR2-4	.;.;TENC1_HUMAN;.	Y	384;518;508;508;508;508;508;508	ENSP00000369232:S384Y;ENSP00000319756:S518Y;ENSP00000319684:S508Y;ENSP00000393362:S508Y;ENSP00000449363:S508Y;ENSP00000447021:S508Y;ENSP00000449361:S508Y	ENSP00000319684:S508Y	S	+	2	0	TENC1	51739215	0.967000	0.33354	0.972000	0.41901	0.993000	0.82548	4.223000	0.58587	1.143000	0.42306	0.561000	0.74099	TCT		0.701	TENC1-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000405779.1	NM_170754		3	40	1	0	0.115264	1	0.115264	3	40					A	53452948	C	A	53452948	3	1	351	1	0	0	0	0	1	0	0	0	15755	913	32	5	1702	5	TENC1	12	53452948	Missense_Mutation	SNP	C	TCGA-M7-A71Z-01A-12D-A32B-08	1583974	53452948	80398947	27	17682											
LRRIQ1	84125	broad.mit.edu	37	chr12	85466829	85466830	+	Frame_Shift_Ins	INS	-	-	A																															atacctattacctcacttacINSaaaaaattcagattgtaatt																										TCGA-M7-A71Z-01A-12D-A32B-08	TCGA-M7-A71Z-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4906782-9697-4813-942b-94c2b8463d5c	fa6e02fd-442a-4a16-8d8d-d85944432531	g.chr12:85466829_85466830insA	ENST00000393217.2	+	11	2901_2902	c.2840_2841insA	c.(2839-2844)acaaaafs	p.TK947fs		NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	947										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		ACCTCACTTACAAAAAATTCAG	0.371																																						ENST00000393217.2																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83						c.(2839-2841)aaafs		leucine-rich repeats and IQ motif containing 1																																				SO:0001589	frameshift_variant	84125							g.chr12:85466829_85466830insA	AK022365	CCDS41816.1	12q21	2008-02-05			ENSG00000133640	ENSG00000133640			25708	protein-coding gene	gene with protein product						11347906	Standard	NM_001079910		Approved	FLJ12303, KIAA1801	uc001tac.3	Q96JM4	OTTHUMG00000166185	ENST00000393217.2:c.2846dupA	12.37:g.85466835_85466835dupA	ENSP00000376910:p.Thr947fs						p.K947fs	NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN		GBM - Glioblastoma multiforme(134;0.212)	11	2901_2902	+			947					Q567P4|Q9BS17|Q9HA36	Frame_Shift_Ins	INS	ENST00000393217.2	37	c.2840_2841insA	CCDS41816.1																																																																																				0.371	LRRIQ1-004	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388249.2	NM_032165		39	56						39	56	---	---	---	---	A	85466830	-	A	85466829	7	5	351	1	0	1	1	0	0	0	0	0	9029	478	17	0	2878	0	LRRIQ1	12	85466829	Frame_Shift_Ins	INS	-	TCGA-M7-A71Z-01A-12D-A32B-08	32013881	85466829	48385066	28	17683											
BRI3BP	140707	broad.mit.edu	37	chr12	125509710	125509710	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttctggatcgtgcgggtcGtcctgttttccatgtcctgc	2	16	11	12	3	2	0	0	0	2	0	7	1	5	1	3	2	2	1	3	2	0	3	rs145269757		TCGA-M7-A71Z-01A-12D-A32B-08	TCGA-M7-A71Z-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4906782-9697-4813-942b-94c2b8463d5c	fa6e02fd-442a-4a16-8d8d-d85944432531	g.chr12:125509710G>A	ENST00000341446.8	+	3	581	c.490G>A	c.(490-492)Gtc>Atc	p.V164I		NM_080626.5	NP_542193.3			BRI3 binding protein											large_intestine(1)|lung(8)|ovary(1)	10	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.35e-05)|Epithelial(86;0.000426)|all cancers(50;0.00576)		CGTGCGGGTCGTCCTGTTTTC	0.607																																						ENST00000341446.8																			0				large_intestine(1)|lung(8)|ovary(1)	10						c.(490-492)Gtc>Atc		BRI3 binding protein		G	ILE/VAL	0,4406		0,0,2203	142	105	117		490	-1.3	0.7	12	dbSNP_134	117	1,8599	1.2+/-3.3	0,1,4299	no	missense	BRI3BP	NM_080626.5	29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	164/252	125509710	1,13005	2203	4300	6503	SO:0001583	missense	140707					integral to membrane|mitochondrial outer membrane		g.chr12:125509710G>A	AF284094	CCDS9262.1	12q24.1	2008-08-04			ENSG00000184992	ENSG00000184992			14251	protein-coding gene	gene with protein product		615627				11860200, 17765869	Standard	NM_080626		Approved	BNAS1, KG19, HCCR-2	uc001uha.1	Q8WY22	OTTHUMG00000168548	ENST00000341446.8:c.490G>A	12.37:g.125509710G>A	ENSP00000340761:p.Val164Ile						p.V164I	NM_080626.5	NP_542193.3	Q8WY22	BRI3B_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;7.35e-05)|Epithelial(86;0.000426)|all cancers(50;0.00576)	3	581	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		164						Missense_Mutation	SNP	ENST00000341446.8	37	c.490G>A	CCDS9262.1	.	.	.	.	.	.	.	.	.	.	g	11.57	1.677540	0.29783	0.0	1.16E-4	ENSG00000184992	ENST00000341446	.	.	.	5.09	-1.29	0.09288	.	0.599281	0.18785	N	0.131231	T	0.06416	0.0165	N	0.00707	-1.245	0.19775	N	0.999951	B	0.10296	0.003	B	0.08055	0.003	T	0.39231	-0.9624	9	0.08837	T	0.75	-9.1128	6.0023	0.19527	0.4848:0.0:0.3918:0.1234	.	164	Q8WY22	BRI3B_HUMAN	I	164	.	ENSP00000340761:V164I	V	+	1	0	BRI3BP	124075663	0.000000	0.05858	0.742000	0.31022	0.858000	0.48976	-0.594000	0.05733	-0.146000	0.11274	-0.230000	0.12252	GTC		0.607	BRI3BP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400200.2	NM_080626		10	83	0	0	0	1	0	10	83					A	125509710	G	A	125509710	3	1	351	1	0	0	0	0	1	0	0	0	1513	1145	40	1	500	1	BRI3BP	12	125509710	Missense_Mutation	SNP	G	TCGA-M7-A71Z-01A-12D-A32B-08	40042881	125509710	8342185	29	17684											
F10	2159	broad.mit.edu	37	chr13	113798308	113798308	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	accccaccgagaaccccttcGacctgcttgacttcaaccag	10	7	6	18	2	1	2	1	1	0	1	2	4	1	2	7	0	3	1	7	0	2	3	rs144711550	byFrequency	TCGA-M7-A71Z-01A-12D-A32B-08	TCGA-M7-A71Z-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4906782-9697-4813-942b-94c2b8463d5c	fa6e02fd-442a-4a16-8d8d-d85944432531	g.chr13:113798308G>A	ENST00000375559.3	+	6	684	c.646G>A	c.(646-648)Gac>Aac	p.D216N	F10_ENST00000409306.1_Missense_Mutation_p.D216N|F10_ENST00000375551.3_Missense_Mutation_p.D216N	NM_000504.3	NP_000495.1	P00742	FA10_HUMAN	coagulation factor X	216					blood coagulation (GO:0007596)|blood coagulation, extrinsic pathway (GO:0007598)|blood coagulation, intrinsic pathway (GO:0007597)|cellular protein metabolic process (GO:0044267)|peptidyl-glutamic acid carboxylation (GO:0017187)|positive regulation of cell migration (GO:0030335)|positive regulation of protein kinase B signaling (GO:0051897)|post-translational protein modification (GO:0043687)|proteolysis (GO:0006508)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|intrinsic component of external side of plasma membrane (GO:0031233)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|phospholipid binding (GO:0005543)|serine-type endopeptidase activity (GO:0004252)			endometrium(2)|large_intestine(4)|lung(10)|pancreas(1)|stomach(1)	18	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.113)|all_lung(25;0.0364)|all_epithelial(44;0.0373)|Lung NSC(25;0.128)|Breast(118;0.188)	all cancers(43;0.0805)|Epithelial(84;0.231)		Antihemophilic Factor(DB00025)|Apixaban(DB06605)|Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Enoxaparin(DB01225)|Fondaparinux sodium(DB00569)|Heparin(DB01109)|Menadione(DB00170)|Rivaroxaban(DB06228)	GAACCCCTTCGACCTGCTTGA	0.632													G|||	2	0.000399361	0	0.0014	5008	,	,		18717	0		0	False		,,,				2504	0.001					ENST00000375559.3																			0				endometrium(2)|large_intestine(4)|lung(10)|pancreas(1)|stomach(1)	18						c.(646-648)Gac>Aac		coagulation factor X	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Enoxaparin(DB01225)|Heparin(DB01109)|Menadione(DB00170)|Reteplase(DB00015)|Tenecteplase(DB00031)	G	ASN/ASP	1,4405	2.1+/-5.4	0,1,2202	139	109	119		646	-10.2	0	13	dbSNP_134	119	6,8594	5.0+/-18.6	0,6,4294	yes	missense	F10	NM_000504.3	23	0,7,6496	AA,AG,GG		0.0698,0.0227,0.0538	benign	216/489	113798308	7,12999	2203	4300	6503	SO:0001583	missense	2159				blood coagulation, extrinsic pathway|blood coagulation, intrinsic pathway|peptidyl-glutamic acid carboxylation|positive regulation of cell migration|positive regulation of protein kinase B signaling cascade|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|extracellular region|Golgi lumen	calcium ion binding|phospholipid binding|protein binding|serine-type endopeptidase activity	g.chr13:113798308G>A		CCDS9530.1	13q34	2012-10-02			ENSG00000126218	ENSG00000126218	3.4.21.6		3528	protein-coding gene	gene with protein product		613872					Standard	XM_005268298		Approved		uc001vsx.3	P00742	OTTHUMG00000017374	ENST00000375559.3:c.646G>A	13.37:g.113798308G>A	ENSP00000364709:p.Asp216Asn					F10_ENST00000375551.3_Missense_Mutation_p.D216N|F10_ENST00000409306.1_Missense_Mutation_p.D216N	p.D216N	NM_000504.3	NP_000495.1	P00742	FA10_HUMAN	all cancers(43;0.0805)|Epithelial(84;0.231)		6	684	+	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.113)|all_lung(25;0.0364)|all_epithelial(44;0.0373)|Lung NSC(25;0.128)|Breast(118;0.188)	216					Q14340	Missense_Mutation	SNP	ENST00000375559.3	37	c.646G>A	CCDS9530.1	.	.	.	.	.	.	.	.	.	.	G	2.162	-0.391850	0.04932	2.27E-4	6.98E-4	ENSG00000126218	ENST00000409306;ENST00000375551;ENST00000375559	D;D;D	0.95554	-3.72;-3.74;-2.95	5.12	-10.2	0.00374	.	2.017250	0.01860	N	0.036577	D	0.86070	0.5845	N	0.11560	0.145	0.09310	N	1	B;B;B	0.16396	0.017;0.017;0.003	B;B;B	0.09377	0.004;0.004;0.001	T	0.78555	-0.2159	10	0.27082	T	0.32	.	5.6887	0.17817	0.0767:0.3162:0.5091:0.098	.	216;216;216	B7ZBK1;Q5JVE8;P00742	.;.;FA10_HUMAN	N	216	ENSP00000387092:D216N;ENSP00000364701:D216N;ENSP00000364709:D216N	ENSP00000364701:D216N	D	+	1	0	F10	112846309	0.000000	0.05858	0.000000	0.03702	0.014000	0.08584	-5.743000	0.00101	-3.763000	0.00110	-0.339000	0.08088	GAC		0.632	F10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045841.3			9	36	0	0	0	1	0	9	36					A	113798308	G	A	113798308	3	1	351	1	0	0	0	0	1	0	0	0	5336	1058	37	2	668	2	F10	13	113798308	Missense_Mutation	SNP	G	TCGA-M7-A71Z-01A-12D-A32B-08		113798308	1371570	30	17685											
UNC13C	440279	broad.mit.edu	37	chr15	54306846	54306846	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agctctctcctgtcatcttcGgaccgggagctatggcagag	7	10	12	12	2	3	1	1	0	2	1	6	3	4	3	2	3	2	3	2	3	1	2	rs377052322		TCGA-M7-A71Z-01A-12D-A32B-08	TCGA-M7-A71Z-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4906782-9697-4813-942b-94c2b8463d5c	fa6e02fd-442a-4a16-8d8d-d85944432531	g.chr15:54306846G>A	ENST00000260323.11	+	1	1746	c.1746G>A	c.(1744-1746)tcG>tcA	p.S582S	UNC13C_ENST00000537900.1_Silent_p.S582S|UNC13C_ENST00000545554.1_Silent_p.S582S	NM_001080534.1	NP_001074003.1	Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	582					exocytosis (GO:0006887)|intracellular signal transduction (GO:0035556)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		TGTCATCTTCGGACCGGGAGC	0.453													G|||	1	0.000199681	0	0	5008	,	,		20188	0		0	False		,,,				2504	0.001					ENST00000545554.1																			0				breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121						c.(1744-1746)tcG>tcA		unc-13 homolog C (C. elegans)		G		1,3809		0,1,1904	71	69	70		1746	-5.8	0.9	15		70	0,8232		0,0,4116	no	coding-synonymous	UNC13C	NM_001080534.1		0,1,6020	AA,AG,GG		0.0,0.0262,0.0083		582/2215	54306846	1,12041	1905	4116	6021	SO:0001819	synonymous_variant	440279				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding	g.chr15:54306846G>A	AK091491	CCDS45264.1	15q21.3	2012-10-02			ENSG00000137766	ENSG00000137766			23149	protein-coding gene	gene with protein product		614568					Standard	NM_001080534		Approved	Munc13-3, DKFZp547H074	uc021smr.1	Q8NB66	OTTHUMG00000172542	ENST00000260323.11:c.1746G>A	15.37:g.54306846G>A						UNC13C_ENST00000260323.11_Silent_p.S582S|UNC13C_ENST00000537900.1_Silent_p.S582S	p.S582S			Q8NB66	UN13C_HUMAN		GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)	1	1746	+			582					Q0P613|Q8ND48|Q96NP3	Silent	SNP	ENST00000260323.11	37	c.1746G>A	CCDS45264.1																																																																																				0.453	UNC13C-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000419028.3	NM_173166		17	29	0	0	0	1	0	17	29					A	54306846	G	A	54306846	2	1	351	1	0	0	0	0	0	0	0	1	16983	1103	39	2		2	UNC13C	15	54306846	Silent	SNP	G	TCGA-M7-A71Z-01A-12D-A32B-08		54306846	48224546	31	17686											
TLN2	83660	broad.mit.edu	37	chr15	63055788	63055788	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcccctggacagagggagtGtgattactccatcgatggca	9	8	14	10	1	0	2	0	1	0	1	2	5	1	4	3	4	1	1	3	4	1	1			TCGA-M7-A71Z-01A-12D-A32B-08	TCGA-M7-A71Z-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4906782-9697-4813-942b-94c2b8463d5c	fa6e02fd-442a-4a16-8d8d-d85944432531	g.chr15:63055788G>T	ENST00000561311.1	+	39	5218	c.4988G>T	c.(4987-4989)tGt>tTt	p.C1663F	TLN2_ENST00000306829.6_Missense_Mutation_p.C1663F|TLN2_ENST00000472902.1_Missense_Mutation_p.C56F			Q9Y4G6	TLN2_HUMAN	talin 2	1663					cell adhesion (GO:0007155)|cell-cell junction assembly (GO:0007043)|cytoskeletal anchoring at plasma membrane (GO:0007016)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|synapse (GO:0045202)	actin binding (GO:0003779)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						CAGAGGGAGTGTGATTACTCC	0.622																																						ENST00000561311.1																			0				NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						c.(4987-4989)tGt>tTt		talin 2							76	61	66					15																	63055788		2203	4300	6503	SO:0001583	missense	83660				cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane	actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse	actin binding|insulin receptor binding|structural constituent of cytoskeleton	g.chr15:63055788G>T	AB002318	CCDS32261.1	15q15-q21	2008-07-03			ENSG00000171914	ENSG00000171914			15447	protein-coding gene	gene with protein product		607349				9205841, 11527381	Standard	NM_015059		Approved	KIAA0320, ILWEQ	uc002alb.4	Q9Y4G6	OTTHUMG00000133679	ENST00000561311.1:c.4988G>T	15.37:g.63055788G>T	ENSP00000453508:p.Cys1663Phe					TLN2_ENST00000472902.1_Missense_Mutation_p.C56F|TLN2_ENST00000306829.6_Missense_Mutation_p.C1663F	p.C1663F			Q9Y4G6	TLN2_HUMAN			39	5218	+			1663					A6NLB8	Missense_Mutation	SNP	ENST00000561311.1	37	c.4988G>T	CCDS32261.1	.	.	.	.	.	.	.	.	.	.	G	25.1	4.605060	0.87157	.	.	ENSG00000171914	ENST00000306829	T	0.77358	-1.09	5.23	5.23	0.72850	.	0.000000	0.85682	D	0.000000	D	0.89656	0.6778	M	0.86028	2.79	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.97110	1.0;0.998	D	0.91222	0.5007	10	0.87932	D	0	-5.9704	18.8097	0.92053	0.0:0.0:1.0:0.0	.	707;1663	G1UI21;Q9Y4G6	.;TLN2_HUMAN	F	1663	ENSP00000303476:C1663F	ENSP00000303476:C1663F	C	+	2	0	TLN2	60843080	1.000000	0.71417	1.000000	0.80357	0.910000	0.53928	9.813000	0.99286	2.441000	0.82636	0.655000	0.94253	TGT		0.622	TLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257878.2			15	20	1	0	2.48551e-13	1	2.83071e-13	15	20					T	63055788	G	T	63055788	3	4	351	1	0	0	0	0	1	0	0	0	15945	1377	48	5	5134	5	TLN2	15	63055788	Missense_Mutation	SNP	G	TCGA-M7-A71Z-01A-12D-A32B-08	8748942	63055788	39475604	32	17687											
SEMA7A	8482	broad.mit.edu	37	chr15	74703021	74703021	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacccccagccagagggaggCggccagggcacaggcatgac	10	1	15	15	1	0	2	0	1	0	1	0	3	0	3	4	5	1	2	4	5	0	0			TCGA-M7-A71Z-01A-12D-A32B-08	TCGA-M7-A71Z-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4906782-9697-4813-942b-94c2b8463d5c	fa6e02fd-442a-4a16-8d8d-d85944432531	g.chr15:74703021C>T	ENST00000261918.4	-	14	2493	c.1945G>A	c.(1945-1947)Gcc>Acc	p.A649T	SEMA7A_ENST00000543145.2_Missense_Mutation_p.A635T|SEMA7A_ENST00000542748.1_Missense_Mutation_p.A484T	NM_003612.3	NP_003603.1	O75326	SEM7A_HUMAN	semaphorin 7A, GPI membrane anchor (John Milton Hagen blood group)	649					axon extension (GO:0048675)|axon guidance (GO:0007411)|immune response (GO:0006955)|inflammatory response (GO:0006954)|integrin-mediated signaling pathway (GO:0007229)|olfactory lobe development (GO:0021988)|osteoblast differentiation (GO:0001649)|positive regulation of axon extension (GO:0045773)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of macrophage cytokine production (GO:0060907)|positive regulation of protein phosphorylation (GO:0001934)|regulation of inflammatory response (GO:0050727)	anchored component of membrane (GO:0031225)|external side of plasma membrane (GO:0009897)|membrane (GO:0016020)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			breast(3)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(3)|lung(12)|upper_aerodigestive_tract(1)	30						CAGAGGGAGGCGGCCAGGGCA	0.687																																						ENST00000261918.4																			0				breast(3)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(3)|lung(12)|upper_aerodigestive_tract(1)	30						c.(1945-1947)Gcc>Acc		semaphorin 7A, GPI membrane anchor (John Milton Hagen blood group)							43	45	44					15																	74703021		2197	4293	6490	SO:0001583	missense	8482				axon guidance|immune response|inflammatory response|integrin-mediated signaling pathway|positive regulation of axon extension|positive regulation of ERK1 and ERK2 cascade|positive regulation of macrophage cytokine production|regulation of inflammatory response	anchored to membrane|external side of plasma membrane	receptor activity	g.chr15:74703021C>T	AF069493	CCDS10262.1, CCDS53958.1, CCDS53959.1	15q22.3-q23	2014-07-18	2006-02-23		ENSG00000138623	ENSG00000138623		"Semaphorins", "CD molecules", "Blood group antigens", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	10741	protein-coding gene	gene with protein product	"John Milton Hagen blood group", "H-Sema K1"	607961	"sema domain, immunoglobulin domain (Ig), and GPI membrane anchor, (semaphorin) 7A", "sema domain, immunoglobulin domain (Ig), and GPI membrane anchor, (semaphorin) 7A (JMH blood group)"	SEMAL		9721204	Standard	NM_003612		Approved	H-Sema-L, CD108	uc002axv.3	O75326	OTTHUMG00000139000	ENST00000261918.4:c.1945G>A	15.37:g.74703021C>T	ENSP00000261918:p.Ala649Thr					SEMA7A_ENST00000542748.1_Missense_Mutation_p.A484T|SEMA7A_ENST00000543145.2_Missense_Mutation_p.A635T	p.A649T	NM_003612.3	NP_003603.1	O75326	SEM7A_HUMAN			14	2493	-			649					B4DDP7|F5H1S0|Q1XE81|Q1XE82|Q1XE83|Q1XE84|Q3MIY5	Missense_Mutation	SNP	ENST00000261918.4	37	c.1945G>A	CCDS10262.1	.	.	.	.	.	.	.	.	.	.	C	1.427	-0.571254	0.03882	.	.	ENSG00000138623	ENST00000261918;ENST00000543145;ENST00000542748	T;T;T	0.22539	1.97;1.95;2.2	4.55	-1.98	0.07480	.	0.376195	0.24059	N	0.041940	T	0.08846	0.0219	N	0.14661	0.345	0.09310	N	1	B;B	0.09022	0.002;0.001	B;B	0.06405	0.002;0.001	T	0.21999	-1.0229	10	0.26408	T	0.33	-8.2664	5.7579	0.18182	0.1214:0.4578:0.0:0.4208	.	635;649	F5H1S0;O75326	.;SEM7A_HUMAN	T	649;635;484	ENSP00000261918:A649T;ENSP00000438966:A635T;ENSP00000441493:A484T	ENSP00000261918:A649T	A	-	1	0	SEMA7A	72490074	0.000000	0.05858	0.003000	0.11579	0.184000	0.23303	-1.409000	0.02483	-0.839000	0.04212	-1.737000	0.00689	GCC		0.687	SEMA7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000272904.3	NM_003612		34	29	0	0	0	1	0	34	29					T	74703021	C	T	74703021	3	4	351	1	0	0	0	0	1	0	0	0	14043	768	27	1	59	1	SEMA7A	15	74703021	Missense_Mutation	SNP	C	TCGA-M7-A71Z-01A-12D-A32B-08	11647233	74703021	27828371	33	17688											
GPR179	440435	broad.mit.edu	37	chr17	36499576	36499576	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agacagagggggcagagagcGgatgggccgtggacccccca	10	2	18	11	2	0	3	0	0	0	3	0	6	0	5	4	5	1	1	4	5	0	0			TCGA-M7-A71Z-01A-12D-A32B-08	TCGA-M7-A71Z-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4906782-9697-4813-942b-94c2b8463d5c	fa6e02fd-442a-4a16-8d8d-d85944432531	g.chr17:36499576G>A	ENST00000342292.4	-	1	117	c.97C>T	c.(97-99)Cgc>Tgc	p.R33C		NM_001004334.2	NP_001004334.2	Q6PRD1	GP179_HUMAN	G protein-coupled receptor 179	33					visual perception (GO:0007601)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				GGCAGAGAGCGGATGGGCCGT	0.652																																						ENST00000342292.4																			0				breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60						c.(97-99)Cgc>Tgc		G protein-coupled receptor 179							27	31	29					17																	36499576		1945	4132	6077	SO:0001583	missense	440435					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr17:36499576G>A		CCDS42308.1	17q21.1	2014-05-06	2006-02-16	2006-02-16	ENSG00000188888	ENSG00000277399		"GPCR / Class C : Orphans"	31371	protein-coding gene	gene with protein product		614515	"GPR158-like 1", "GPR179"	GPR158L1			Standard	NM_001004334		Approved	CSNB1E	uc002hpz.3	Q6PRD1	OTTHUMG00000188545	ENST00000342292.4:c.97C>T	17.37:g.36499576G>A	ENSP00000345060:p.Arg33Cys						p.R33C	NM_001004334.2	NP_001004334.2	Q6PRD1	GP179_HUMAN			1	117	-	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)	33						Missense_Mutation	SNP	ENST00000342292.4	37	c.97C>T	CCDS42308.1	.	.	.	.	.	.	.	.	.	.	G	11.91	1.780493	0.31502	.	.	ENSG00000188888	ENST00000342292	D	0.81659	-1.52	5.54	3.42	0.39159	.	0.251717	0.31381	N	0.007753	T	0.80884	0.4709	L	0.57536	1.79	0.09310	N	1	D	0.76494	0.999	P	0.53689	0.732	T	0.72497	-0.4275	10	0.87932	D	0	-2.0751	6.548	0.22416	0.0836:0.0:0.5938:0.3227	.	33	Q6PRD1	GP179_HUMAN	C	33	ENSP00000345060:R33C	ENSP00000345060:R33C	R	-	1	0	GPR179	33753102	0.012000	0.17670	0.138000	0.22173	0.225000	0.24961	1.269000	0.33074	1.267000	0.44247	0.655000	0.94253	CGC		0.652	GPR179-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255329.2			12	27	0	0	0	1	0	12	27					A	36499576	G	A	36499576	3	1	351	1	0	0	0	0	1	0	0	0	6674	1116	39	2	7050	2	GPR179	17	36499576	Missense_Mutation	SNP	G	TCGA-M7-A71Z-01A-12D-A32B-08		36499576	44695634	34	17689											
SMCHD1	23347	broad.mit.edu	37	chr18	2694691	2694691	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cctttggacacgacagttagCgtaagtaattatatttggct	11	14	9	7	2	0	0	0	0	0	0	0	2	0	1	1	2	1	4	1	2	5	7			TCGA-M7-A71Z-01A-12D-A32B-08	TCGA-M7-A71Z-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4906782-9697-4813-942b-94c2b8463d5c	fa6e02fd-442a-4a16-8d8d-d85944432531	g.chr18:2694691C>T	ENST00000320876.6	+	8	1378	c.1040C>T	c.(1039-1041)gCg>gTg	p.A347V	SMCHD1_ENST00000261598.8_Splice_Site_p.A347V|RP11-703M24.5_ENST00000583546.1_RNA	NM_015295.2	NP_056110.2	A6NHR9	SMHD1_HUMAN	structural maintenance of chromosomes flexible hinge domain containing 1	347					chromosome organization (GO:0051276)|inactivation of X chromosome by DNA methylation (GO:0060821)	Barr body (GO:0001740)	ATP binding (GO:0005524)			NS(3)|breast(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(16)|lung(15)|pancreas(1)	45						CGACAGTTAGCGTAAGTAATT	0.358																																						ENST00000320876.6																			0				NS(3)|breast(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(16)|lung(15)|pancreas(1)	45						c.e8+1		structural maintenance of chromosomes flexible hinge domain containing 1							79	73	75					18																	2694691		1854	4089	5943	SO:0001630	splice_region_variant	23347				chromosome organization		ATP binding	g.chr18:2694691C>T	AB014550	CCDS45822.1	18p11.32	2010-05-12			ENSG00000101596	ENSG00000101596			29090	protein-coding gene	gene with protein product		614982				9734811	Standard	NM_015295		Approved	KIAA0650	uc002klm.4	A6NHR9		ENST00000320876.6:c.1040+1C>T	18.37:g.2694691C>T						SMCHD1_ENST00000261598.8_Splice_Site_p.A347_splice|RP11-703M24.5_ENST00000583546.1_RNA	p.A347_splice	NM_015295.2	NP_056110.2	A6NHR9	SMHD1_HUMAN			8	1378	+			347					O75141|Q6AHX6|Q6ZTQ8|Q9H6Q2|Q9UG39	Splice_Site	SNP	ENST00000320876.6	37	c.1040_splice	CCDS45822.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.160077	0.78226	.	.	ENSG00000101596	ENST00000320876;ENST00000261598	T;T	0.30182	1.54;1.55	5.28	5.28	0.74379	ATPase-like, ATP-binding domain (1);	.	.	.	.	T	0.32852	0.0843	L	0.49126	1.545	0.40679	D	0.982282	B	0.28208	0.203	B	0.22753	0.041	T	0.19257	-1.0311	9	0.87932	D	0	.	19.2747	0.94027	0.0:1.0:0.0:0.0	.	347	A6NHR9	SMHD1_HUMAN	V	347	ENSP00000326603:A347V;ENSP00000261598:A347V	ENSP00000261598:A347V	A	+	2	0	SMCHD1	2684691	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.004000	0.76317	2.626000	0.88956	0.655000	0.94253	GCG		0.358	SMCHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441082.2		Missense_Mutation	12	11	0	0	0	1	0	12	11					T	2694691	C	T	2694691	5	4	351	1	0	0	0	0	0	0	1	0	14788	782	27	1	1070	1	SMCHD1	18	2694691	Splice_Site	SNP	C	TCGA-M7-A71Z-01A-12D-A32B-08		2694691	75382557	35	17690											
SSTR4	6754	broad.mit.edu	37	chr20	23016627	23016627	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccaagctcatcaacctgggCgtgtggctggcatccctgtt	6	10	12	13	1	2	0	2	0	0	0	3	0	3	0	3	3	2	4	3	3	2	1			TCGA-M7-A71Z-01A-12D-A32B-08	TCGA-M7-A71Z-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4906782-9697-4813-942b-94c2b8463d5c	fa6e02fd-442a-4a16-8d8d-d85944432531	g.chr20:23016627C>T	ENST00000255008.3	+	1	571	c.507C>T	c.(505-507)ggC>ggT	p.G169G	RP4-753D10.3_ENST00000440921.1_RNA	NM_001052.2	NP_001043.2	P31391	SSR4_HUMAN	somatostatin receptor 4	169					arachidonic acid metabolic process (GO:0019369)|cell migration (GO:0016477)|cellular response to glucocorticoid stimulus (GO:0071385)|forebrain development (GO:0030900)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|negative regulation of cAMP metabolic process (GO:0030815)|negative regulation of cell proliferation (GO:0008285)|positive regulation of MAPK cascade (GO:0043410)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	somatostatin receptor activity (GO:0004994)			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)	32	Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118)					TCAACCTGGGCGTGTGGCTGG	0.697																																					Esophageal Squamous(15;850 1104 16640)	ENST00000255008.3																			0				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)	32						c.(505-507)ggC>ggT		somatostatin receptor 4							48	54	52					20																	23016627		2197	4293	6490	SO:0001819	synonymous_variant	6754				G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cell proliferation	integral to plasma membrane	somatostatin receptor activity	g.chr20:23016627C>T		CCDS42856.1	20p11.21	2014-07-11			ENSG00000132671	ENSG00000132671		"GPCR / Class A : Somatostatin receptors"	11333	protein-coding gene	gene with protein product		182454				8483934	Standard	NM_001052		Approved		uc002wsr.2	P31391	OTTHUMG00000032054	ENST00000255008.3:c.507C>T	20.37:g.23016627C>T						RP4-753D10.3_ENST00000440921.1_RNA	p.G169G	NM_001052.2	NP_001043.2	P31391	SSR4_HUMAN			1	571	+	Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118)		169					Q17RM1|Q17RM3|Q9UIY1	Silent	SNP	ENST00000255008.3	37	c.507C>T	CCDS42856.1																																																																																				0.697	SSTR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078308.1			29	38	0	0	0	1	0	29	38					T	23016627	C	T	23016627	2	4	351	1	0	0	0	0	0	0	0	1	15199	755	27	1		1	SSTR4	20	23016627	Silent	SNP	C	TCGA-M7-A71Z-01A-12D-A32B-08		23016627	40008893	36	17691											
L3MBTL2	83746	broad.mit.edu	37	chr22	41620063	41620063	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acccctttaggcagggcatgCggctggaagtggtggacaag	9	7	16	9	1	0	0	0	0	0	0	0	2	0	2	2	6	1	3	2	6	3	2			TCGA-M7-A71Z-01A-12D-A32B-08	TCGA-M7-A71Z-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4906782-9697-4813-942b-94c2b8463d5c	fa6e02fd-442a-4a16-8d8d-d85944432531	g.chr22:41620063C>T	ENST00000216237.5	+	9	1140	c.982C>T	c.(982-984)Cgg>Tgg	p.R328W		NM_031488.4	NP_113676.2	Q969R5	LMBL2_HUMAN	l(3)mbt-like 2 (Drosophila)	328					chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						GCAGGGCATGCGGCTGGAAGT	0.597																																						ENST00000216237.5																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						c.(982-984)Cgg>Tgg		l(3)mbt-like 2 (Drosophila)							119	79	92					22																	41620063		2203	4300	6503	SO:0001583	missense	83746				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	methylated histone residue binding|transcription corepressor activity|zinc ion binding	g.chr22:41620063C>T	AJ305226	CCDS14011.1	22q13.31-q13.33	2008-06-11			ENSG00000100395	ENSG00000100395			18594	protein-coding gene	gene with protein product		611865				11682070	Standard	NM_031488		Approved	H-l(3)mbt-l, DKFZP761I141, dJ756G23.3	uc003azo.3	Q969R5	OTTHUMG00000150942	ENST00000216237.5:c.982C>T	22.37:g.41620063C>T	ENSP00000216237:p.Arg328Trp						p.R328W	NM_031488.4	NP_113676.2	Q969R5	LMBL2_HUMAN			9	1140	+			328					Q8TEN1|Q96SC4|Q9BQI2|Q9UGS4	Missense_Mutation	SNP	ENST00000216237.5	37	c.982C>T	CCDS14011.1	.	.	.	.	.	.	.	.	.	.	C	25.0	4.587614	0.86851	.	.	ENSG00000100395	ENST00000216237	T	0.33654	1.4	5.41	4.37	0.52481	.	0.000000	0.85682	D	0.000000	T	0.61553	0.2356	M	0.80847	2.515	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.997	T	0.67296	-0.5706	10	0.72032	D	0.01	.	13.809	0.63250	0.2782:0.7217:0.0:0.0	.	328;328	Q969R5-3;Q969R5	.;LMBL2_HUMAN	W	328	ENSP00000216237:R328W	ENSP00000216237:R328W	R	+	1	2	L3MBTL2	39950009	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	1.942000	0.40243	1.252000	0.44001	0.655000	0.94253	CGG		0.597	L3MBTL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320613.1	NM_031488		4	58	0	0	0	1	0	4	58					T	41620063	C	T	41620063	3	4	351	1	0	0	0	0	1	0	0	0	8592	759	27	1	1016	1	L3MBTL2	22	41620063	Missense_Mutation	SNP	C	TCGA-M7-A71Z-01A-12D-A32B-08		41620063	9684503	37	17692											
NUDT11	55190	broad.mit.edu	37	chrX	51239296	51239309	+	Start_Codon_Del	DEL	TCCTCGAGGCAGCC	TCCTCGAGGCAGCC	-																															ctggttgggtttgcacttcaTcctcgaggcagcctcctcga																								rs78182391		TCGA-M7-A71Z-01A-12D-A32B-08	TCGA-M7-A71Z-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4906782-9697-4813-942b-94c2b8463d5c	fa6e02fd-442a-4a16-8d8d-d85944432531	g.chrX:51239296_51239309delTCCTCGAGGCAGCC	ENST00000375992.3	-	0	139_152					NM_018159.3	NP_060629.2	Q96G61	NUD11_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 11						inositol phosphate metabolic process (GO:0043647)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|intracellular (GO:0005622)	diphosphoinositol-polyphosphate diphosphatase activity (GO:0008486)|inositol diphosphate tetrakisphosphate diphosphatase activity (GO:0052840)|inositol-1,5-bisdiphosphate-2,3,4,6-tetrakisphosphate 1-diphosphatase activity (GO:0052846)|inositol-1,5-bisdiphosphate-2,3,4,6-tetrakisphosphate 5-diphosphatase activity (GO:0052847)|inositol-1-diphosphate-2,3,4,5,6-pentakisphosphate diphosphatase activity (GO:0052843)|inositol-3,5-bisdiphosphate-2,3,4,6-tetrakisphosphate 5-diphosphatase activity (GO:0052848)|inositol-3-diphosphate-1,2,4,5,6-pentakisphosphate diphosphatase activity (GO:0052844)|inositol-5-diphosphate-1,2,3,4,6-pentakisphosphate diphosphatase activity (GO:0052845)|metal ion binding (GO:0046872)	p.?(5)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|upper_aerodigestive_tract(2)	9	Ovarian(276;0.236)					TTGCACTTCATCCTCGAGGCAGCCTCCTCGAGGC	0.692										HNSCC(48;0.14)				2406	0.637351	0.497	0.4928	3775	,	,		5662	0.4464		0.4553	False		,,,				2504	0.5102				GBM(38;198 791 1498 11752 13599)	ENST00000375992.3																			5	Unknown(5)	p.?(5)	upper_aerodigestive_tract(2)|prostate(1)|breast(1)|central_nervous_system(1)	breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|upper_aerodigestive_tract(2)	9								nudix (nucleoside diphosphate linked moiety X)-type motif 11				1710,202		758,11,183,87,17						3	1		dbSNP_131	12	3133,173		1220,1,692,66,40	no	frameshift	NUDT11	NM_018159.3		1978,12,875,153,57	A1A1,A1R,A1,RR,R		5.2329,10.5649,7.1867				4843,375				SO:0001582	initiator_codon_variant	0					cytoplasm	diphosphoinositol-polyphosphate diphosphatase activity|metal ion binding	g.chrX:51239296_51239309delTCCTCGAGGCAGCC	AK001490	CCDS43952.1	Xp11.22-p11.1	2014-05-20			ENSG00000196368	ENSG00000196368		"Nudix motif containing"	18011	protein-coding gene	gene with protein product						12105228	Standard	NM_018159		Approved	DIPP3b, FLJ10628, hDIPP3beta	uc010njt.3	Q96G61	OTTHUMG00000021531		X.37:g.51239296_51239309delTCCTCGAGGCAGCC		HNSCC(48;0.14)						NM_018159.3	NP_060629.2	Q96G61	NUD11_HUMAN			0	139_152	-	Ovarian(276;0.236)							Q9NVN0	Translation_Start_Site	DEL	ENST00000375992.3	37		CCDS43952.1																																																																																				0.692	NUDT11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056579.1			5	5						5	5	---	---	---	---	-	51239309	TCCTCGAGGCAGCC	-	51239296	7	5	351	1	0	1	0	1	0	0	0	0	10727	1435	50	0	501	0	NUDT11	23	51239296	Start_Codon_Del	DEL	TCCTCGAGGCAGCC	TCGA-M7-A71Z-01A-12D-A32B-08		51239296	104031264	38	17693											
BCORL1	63035	broad.mit.edu	37	chrX	129149433	129149433	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccacggcctgggggctccttCgttccagagcaggaccctgt	5	8	13	15	2	0	1	0	0	0	1	3	2	2	2	5	4	1	3	5	4	0	2			TCGA-M7-A71Z-01A-12D-A32B-08	TCGA-M7-A71Z-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4906782-9697-4813-942b-94c2b8463d5c	fa6e02fd-442a-4a16-8d8d-d85944432531	g.chrX:129149433C>T	ENST00000218147.7	+	4	2882	c.2685C>T	c.(2683-2685)ttC>ttT	p.F895F	BCORL1_ENST00000540052.1_Silent_p.F895F|BCORL1_ENST00000359304.2_Silent_p.F895F|BCORL1_ENST00000303743.5_Silent_p.F895F			Q5H9F3	BCORL_HUMAN	BCL6 corepressor-like 1	895					chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.S894fs*26(1)		breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						GGGGCTCCTTCGTTCCAGAGC	0.562																																						ENST00000540052.1																			1	Deletion - Frameshift(1)	p.S894fs*26(1)	ovary(1)	breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						c.(2683-2685)ttC>ttT		BCL6 corepressor-like 1							51	48	49					X																	129149433		2203	4300	6503	SO:0001819	synonymous_variant	63035				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus		g.chrX:129149433C>T	AL136450	CCDS14616.1	Xq25-q26.1	2014-09-17	2010-06-10		ENSG00000085185	ENSG00000085185		"Ankyrin repeat domain containing"	25657	protein-coding gene	gene with protein product		300688	"chromosome X open reading frame 10", "BCL6 co-repressor-like 1"	CXorf10			Standard	NM_021946		Approved	FLJ11362	uc022cdu.1	Q5H9F3	OTTHUMG00000022379	ENST00000218147.7:c.2685C>T	X.37:g.129149433C>T						BCORL1_ENST00000359304.2_Silent_p.F895F|BCORL1_ENST00000303743.5_Silent_p.F895F|BCORL1_ENST00000218147.7_Silent_p.F895F	p.F895F	NM_021946.4	NP_068765.3	Q5H9F3	BCORL_HUMAN			3	2729	+			895					B5MDQ8|Q5H9F2|Q5H9F4|Q6ZVE0|Q8TEN3|Q9Y528	Silent	SNP	ENST00000218147.7	37	c.2685C>T	CCDS14616.1	.	.	.	.	.	.	.	.	.	.	C	1.925	-0.447483	0.04572	.	.	ENSG00000085185	ENST00000441294	.	.	.	5.31	-2.29	0.06805	.	.	.	.	.	T	0.30541	0.0768	.	.	.	0.20074	N	0.999936	.	.	.	.	.	.	T	0.33828	-0.9853	4	.	.	.	-12.2043	7.9198	0.29839	0.0:0.4062:0.1148:0.479	.	.	.	.	C	331	.	.	R	+	1	0	BCORL1	128977114	0.002000	0.14202	0.211000	0.23655	0.967000	0.64934	-0.431000	0.06965	-0.423000	0.07394	-0.475000	0.04921	CGT		0.562	BCORL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058223.1	NM_021946		4	16	0	0	0	1	0	4	16					T	129149433	C	T	129149433	2	4	351	1	0	0	0	0	0	0	0	1	1387	883	31	2		2	BCORL1	23	129149433	Silent	SNP	C	TCGA-M7-A71Z-01A-12D-A32B-08	77910137	129149433	26121127	39	17694											
TGFBRAP1	9392	broad.mit.edu	37	chr2	105924087	105924087	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcacccagccctccggggccCgccagcaggaactcctgtct	6	6	10	19	2	2	0	1	0	1	0	4	1	4	1	6	3	3	1	6	3	1	0			TCGA-M7-A720-01A-12D-A32B-08	TCGA-M7-A720-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cba5884-4340-40e8-a83c-7377f5436f29	cd75bca3-514a-46d7-9c45-64d7da925e78	g.chr2:105924087C>A	ENST00000393359.2	-	2	1098	c.672G>T	c.(670-672)gcG>gcT	p.A224A	TGFBRAP1_ENST00000258449.1_Silent_p.A224A			Q8WUH2	TGFA1_HUMAN	transforming growth factor, beta receptor associated protein 1	224	CNH. {ECO:0000255|PROSITE- ProRule:PRU00795}.				intracellular protein transport (GO:0006886)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transforming growth factor beta receptor signaling pathway (GO:0007179)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|membrane (GO:0016020)	SMAD binding (GO:0046332)|small GTPase regulator activity (GO:0005083)|transforming growth factor beta receptor binding (GO:0005160)			central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	31						CTCCGGGGCCCGCCAGCAGGA	0.592																																					Esophageal Squamous(183;794 2019 9730 21801 48859)	ENST00000393359.2																			0				central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	31						c.(670-672)gcG>gcT		transforming growth factor, beta receptor associated protein 1							92	106	101					2																	105924087		2203	4300	6503	SO:0001819	synonymous_variant	9392				regulation of transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway	cytoplasm|membrane	SMAD binding|small GTPase regulator activity|transforming growth factor beta receptor binding	g.chr2:105924087C>A	AF022795	CCDS2067.1	2q12.1	2008-02-05			ENSG00000135966	ENSG00000135966			16836	protein-coding gene	gene with protein product		606237				9545258, 11278302	Standard	NM_001142621		Approved	TRAP-1, TRAP1	uc002tcr.4	Q8WUH2	OTTHUMG00000130809	ENST00000393359.2:c.672G>T	2.37:g.105924087C>A						TGFBRAP1_ENST00000258449.1_Silent_p.A224A	p.A224A			Q8WUH2	TGFA1_HUMAN			2	1098	-			224			CNH.		A8K5R7|D3DVJ8|O60466	Silent	SNP	ENST00000393359.2	37	c.672G>T	CCDS2067.1																																																																																				0.592	TGFBRAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253354.2	NM_004257		4	212	1	0	3.59834e-05	1	3.68012e-05	4	212					A	105924087	C	A	105924087	2	1	352	1	0	0	0	0	0	0	0	1	15821	639	23	5		5	TGFBRAP1	2	105924087	Silent	SNP	C	TCGA-M7-A720-01A-12D-A32B-08		105924087	137275286	1	17695											
GPR17	2840	broad.mit.edu	37	chr2	128408704	128408704	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cagcgccgaccgtttcctggCcattgtgcacccggtcaagt	6	9	11	15	4	1	0	1	0	0	0	2	1	2	0	5	2	2	2	5	2	1	2			TCGA-M7-A720-01A-12D-A32B-08	TCGA-M7-A720-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cba5884-4340-40e8-a83c-7377f5436f29	cd75bca3-514a-46d7-9c45-64d7da925e78	g.chr2:128408704C>T	ENST00000272644.3	+	3	553	c.479C>T	c.(478-480)gCc>gTc	p.A160V	LIMS2_ENST00000545738.2_Intron|LIMS2_ENST00000324938.5_Intron|LIMS2_ENST00000409254.1_5'Flank|LIMS2_ENST00000355119.4_Intron|GPR17_ENST00000544369.1_Missense_Mutation_p.A160V|LIMS2_ENST00000410011.1_Intron|LIMS2_ENST00000409808.2_Intron|LIMS2_ENST00000410038.1_5'Flank|GPR17_ENST00000393018.3_Missense_Mutation_p.A160V|GPR17_ENST00000486700.1_3'UTR|LIMS2_ENST00000409455.1_Intron	NM_001161416.1|NM_001161417.1|NM_005291.2	NP_001154888.1|NP_001154889.1|NP_005282.1	Q13304	GPR17_HUMAN	G protein-coupled receptor 17	160					chemokine-mediated signaling pathway (GO:0070098)|G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	chemokine receptor activity (GO:0004950)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|prostate(2)|urinary_tract(1)	19	Colorectal(110;0.1)	Ovarian(717;0.15)		BRCA - Breast invasive adenocarcinoma(221;0.0677)		CGTTTCCTGGCCATTGTGCAC	0.617																																						ENST00000544369.1																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|prostate(2)|urinary_tract(1)	19						c.(478-480)gCc>gTc		G protein-coupled receptor 17							131	108	116					2																	128408704		2203	4300	6503	SO:0001583	missense	0					integral to plasma membrane	chemokine receptor activity|purinergic nucleotide receptor activity, G-protein coupled	g.chr2:128408704C>T		CCDS2148.1	2q21	2014-01-30			ENSG00000144230	ENSG00000144230		"GPCR / Class A : Orphans"	4471	protein-coding gene	gene with protein product		603071				8558062	Standard	NM_001161415		Approved		uc002tpc.3	Q13304	OTTHUMG00000131533	ENST00000272644.3:c.479C>T	2.37:g.128408704C>T	ENSP00000272644:p.Ala160Val					LIMS2_ENST00000545738.2_Intron|LIMS2_ENST00000324938.5_Intron|LIMS2_ENST00000355119.4_Intron|GPR17_ENST00000272644.3_Missense_Mutation_p.A160V|GPR17_ENST00000393018.3_Missense_Mutation_p.A160V|LIMS2_ENST00000409455.1_Intron|LIMS2_ENST00000410011.1_Intron|GPR17_ENST00000486700.1_3'UTR|LIMS2_ENST00000409808.2_Intron	p.A160V	NM_001161415.1	NP_001154887.1	Q13304	GPR17_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0677)	4	1090	+	Colorectal(110;0.1)	Ovarian(717;0.15)	160					A8K9L0|B2R9X0|Q8N5S7|Q9UDZ6|Q9UE21	Missense_Mutation	SNP	ENST00000272644.3	37	c.479C>T	CCDS2148.1	.	.	.	.	.	.	.	.	.	.	c	32	5.172133	0.94807	.	.	ENSG00000144230	ENST00000544369;ENST00000272644;ENST00000393018	T;T;T	0.52057	0.68;0.68;0.68	5.38	5.38	0.77491	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.71500	0.3347	M	0.81682	2.555	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.71580	-0.4550	10	0.40728	T	0.16	.	19.1293	0.93399	0.0:1.0:0.0:0.0	.	160	Q13304	GPR17_HUMAN	V	160	ENSP00000442982:A160V;ENSP00000272644:A160V;ENSP00000376741:A160V	ENSP00000272644:A160V	A	+	2	0	GPR17	128125174	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.001000	0.70685	2.525000	0.85131	0.591000	0.81541	GCC		0.617	GPR17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254390.1			5	160	0	0	0	1	0	5	160					T	128408704	C	T	128408704	3	4	352	1	0	0	0	0	1	0	0	0	6667	739	26	3	485	3	GPR17	2	128408704	Missense_Mutation	SNP	C	TCGA-M7-A720-01A-12D-A32B-08	22484617	128408704	114790669	2	17696											
MAP4	4134	broad.mit.edu	37	chr3	47951176	47951176	+	Intron	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctctggtcttctactggcaCtccaggaaggaggtgacctt	7	11	12	11	0	3	1	0	1	3	0	4	3	4	3	2	5	1	2	2	5	2	3			TCGA-M7-A720-01A-12D-A32B-08	TCGA-M7-A720-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cba5884-4340-40e8-a83c-7377f5436f29	cd75bca3-514a-46d7-9c45-64d7da925e78	g.chr3:47951176C>T	ENST00000360240.6	-	8	2518				MAP4_ENST00000426837.2_Missense_Mutation_p.V1596M|MAP4_ENST00000383737.4_Intron|MAP4_ENST00000264724.11_Missense_Mutation_p.V186M|MAP4_ENST00000395734.3_Intron	NM_002375.4	NP_002366.2	P27816	MAP4_HUMAN	microtubule-associated protein 4						cell division (GO:0051301)|establishment of spindle orientation (GO:0051294)|microtubule sliding (GO:0051012)|mitotic spindle organization (GO:0007052)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|microtubule cytoskeleton (GO:0015630)|mitotic spindle (GO:0072686)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|structural molecule activity (GO:0005198)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(2)	32				BRCA - Breast invasive adenocarcinoma(193;0.000721)|KIRC - Kidney renal clear cell carcinoma(197;0.00641)|Kidney(197;0.00736)	Docetaxel(DB01248)|Paclitaxel(DB01229)	TCTACTGGCACTCCAGGAAGG	0.493																																						ENST00000426837.2																			0				breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(2)	32						c.(4786-4788)Gtg>Atg		microtubule-associated protein 4							69	68	68					3																	47951176		1974	4155	6129	SO:0001627	intron_variant	4134				negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity	g.chr3:47951176C>T		CCDS33750.1, CCDS46818.1, CCDS46821.1	3p21	2008-07-18			ENSG00000047849	ENSG00000047849			6862	protein-coding gene	gene with protein product		157132				1905296	Standard	NM_002375		Approved		uc003csb.2	P27816	OTTHUMG00000156828	ENST00000360240.6:c.1999+5130G>A	3.37:g.47951176C>T						MAP4_ENST00000395734.3_Intron|MAP4_ENST00000383737.4_Intron|MAP4_ENST00000360240.6_Intron|MAP4_ENST00000264724.11_Missense_Mutation_p.V186M	p.V1596M			P27816	MAP4_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000721)|KIRC - Kidney renal clear cell carcinoma(197;0.00641)|Kidney(197;0.00736)	10	4873	-			969					Q13082|Q59FT2|Q68D74|Q6ZUW9|Q86V26|Q96A76|Q96NS9	Missense_Mutation	SNP	ENST00000360240.6	37	c.4786G>A	CCDS33750.1	.	.	.	.	.	.	.	.	.	.	C	5.786	0.329403	0.10956	.	.	ENSG00000047849	ENST00000264724;ENST00000426837;ENST00000383736	T;T	0.50277	0.75;2.59	4.96	2.11	0.27256	.	.	.	.	.	T	0.30324	0.0761	.	.	.	0.09310	N	1	B;B	0.32101	0.356;0.243	B;B	0.33454	0.164;0.079	T	0.16188	-1.0411	7	.	.	.	.	4.7754	0.13176	0.0:0.6284:0.1792:0.1924	.	186;186	P27816-4;E9PGM5	.;.	M	186;1596;186	ENSP00000264724:V186M;ENSP00000407602:V1596M	.	V	-	1	0	MAP4	47926180	0.000000	0.05858	0.001000	0.08648	0.464000	0.32679	-0.765000	0.04730	0.745000	0.32763	0.561000	0.74099	GTG		0.493	MAP4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000346085.1	NM_002375		4	112	0	0	0	1	0	4	112					T	47951176	C	T	47951176	1	4	352	0	1	0	0	0	0	0	0	0	9258	565	20	3		3	MAP4	3	47951176	Intron	SNP	C	TCGA-M7-A720-01A-12D-A32B-08		47951176	150071254	3	17697											
ARIH2	10425	broad.mit.edu	37	chr3	49012412	49012412	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aatgctccaaatgtaaacacGgtgagttccaagcttggtgt	12	11	10	8	1	0	1	0	1	0	0	2	1	2	1	2	2	3	4	2	2	5	3			TCGA-M7-A720-01A-12D-A32B-08	TCGA-M7-A720-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cba5884-4340-40e8-a83c-7377f5436f29	cd75bca3-514a-46d7-9c45-64d7da925e78	g.chr3:49012412G>A	ENST00000356401.4	+	11	1300	c.961G>A	c.(961-963)Gac>Aac	p.D321N	ARIH2_ENST00000449376.1_Splice_Site_p.D321N|ARIH2_ENST00000490095.1_3'UTR	NM_006321.2	NP_006312.1	O95376	ARI2_HUMAN	ariadne RBR E3 ubiquitin protein ligase 2	321					developmental cell growth (GO:0048588)|hematopoietic stem cell proliferation (GO:0071425)|multicellular organismal development (GO:0007275)|protein K48-linked ubiquitination (GO:0070936)|protein K63-linked ubiquitination (GO:0070534)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|nucleic acid binding (GO:0003676)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)	13				BRCA - Breast invasive adenocarcinoma(193;9.42e-05)|Kidney(197;0.00258)|KIRC - Kidney renal clear cell carcinoma(197;0.00269)		ATGTAAACACGGTGAGTTCCA	0.458																																						ENST00000356401.4																			0				cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)	13						c.e11+1		ariadne RBR E3 ubiquitin protein ligase 2							293	261	272					3																	49012412		2203	4300	6503	SO:0001630	splice_region_variant	10425				developmental cell growth|hemopoietic stem cell proliferation|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr3:49012412G>A	AF099149	CCDS2780.1	3p21	2013-10-03	2013-10-03		ENSG00000177479	ENSG00000177479			690	protein-coding gene	gene with protein product	"all-trans retinoic acid inducible RING finger"	605615	"ariadne (Drosophila) homolog 2", "ariadne homolog 2 (Drosophila)"			10422847, 24058416	Standard	XM_005264798		Approved	TRIAD1	uc003cvb.3	O95376	OTTHUMG00000133547	ENST00000356401.4:c.961+1G>A	3.37:g.49012412G>A						ARIH2_ENST00000449376.1_Splice_Site_p.D321_splice|ARIH2_ENST00000490095.1_3'UTR	p.D321_splice	NM_006321.2	NP_006312.1	O95376	ARI2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;9.42e-05)|Kidney(197;0.00258)|KIRC - Kidney renal clear cell carcinoma(197;0.00269)	11	1300	+			321					Q9HBZ6|Q9UEM9	Splice_Site	SNP	ENST00000356401.4	37	c.961_splice	CCDS2780.1	.	.	.	.	.	.	.	.	.	.	G	24.5	4.538945	0.85917	.	.	ENSG00000177479	ENST00000356401;ENST00000449376;ENST00000444790;ENST00000395481	T;T	0.80653	-1.4;-1.4	5.91	5.91	0.95273	Zinc finger, RING-type, conserved site (1);Zinc finger, C6HC-type (2);Zinc finger, RING-type (2);	0.000000	0.85682	D	0.000000	T	0.67795	0.2931	N	0.13098	0.295	0.80722	D	1	P;P;B	0.46912	0.886;0.691;0.39	B;B;B	0.35073	0.195;0.137;0.102	T	0.73652	-0.3915	10	0.56958	D	0.05	.	20.2963	0.98556	0.0:0.0:1.0:0.0	.	328;321;321	B3KMG5;Q53ET9;O95376	.;.;ARI2_HUMAN	N	321;321;320;145	ENSP00000348769:D321N;ENSP00000403222:D321N	ENSP00000348769:D321N	D	+	1	0	ARIH2	48987416	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.916000	0.92745	2.813000	0.96785	0.655000	0.94253	GAC		0.458	ARIH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257525.1	NM_006321	Missense_Mutation	4	214	0	0	0	1	0	4	214					A	49012412	G	A	49012412	5	1	352	1	0	0	0	0	0	0	1	0	924	1130	39	2	995	2	ARIH2	3	49012412	Splice_Site	SNP	G	TCGA-M7-A720-01A-12D-A32B-08	1061236	49012412	149010018	4	17698											
SLC9A10	285335	broad.mit.edu	37	chr3	111918172	111918172	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aaatattttgccttaccttaTtaattccagcaccttcagtt	11	17	3	10	0	1	0	1	0	0	0	2	0	2	0	4	0	3	2	4	0	5	9			TCGA-M7-A720-01A-12D-A32B-08	TCGA-M7-A720-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cba5884-4340-40e8-a83c-7377f5436f29	cd75bca3-514a-46d7-9c45-64d7da925e78	g.chr3:111918172T>C	ENST00000305815.5	-	20	2771	c.2519A>G	c.(2518-2520)aAt>aGt	p.N840S	SLC9C1_ENST00000487372.1_Missense_Mutation_p.N792S	NM_183061.1	NP_898884.1	Q4G0N8	SL9C1_HUMAN	solute carrier family 9, subfamily C (Na+-transporting carboxylic acid decarboxylase), member 1	840					cell differentiation (GO:0030154)|ion transmembrane transport (GO:0034220)|multicellular organismal development (GO:0007275)|sodium ion transport (GO:0006814)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|motile cilium (GO:0031514)|plasma membrane (GO:0005886)	solute:proton antiporter activity (GO:0015299)										CCTTACCTTATTAATTCCAGC	0.308																																						ENST00000305815.5																			0											c.(2518-2520)aAt>aGt		solute carrier family 9, subfamily C (Na+-transporting carboxylic acid decarboxylase), member 1							79	87	85					3																	111918172		2202	4297	6499	SO:0001583	missense	285335				cell differentiation|multicellular organismal development|sodium ion transport|spermatogenesis	cilium|flagellar membrane|integral to membrane	solute:hydrogen antiporter activity	g.chr3:111918172T>C	AK128084	CCDS33817.1	3q13	2013-05-22	2012-03-22	2012-03-22	ENSG00000172139	ENSG00000172139		"Solute carriers"	31401	protein-coding gene	gene with protein product	"sperm-NHE"	612738	"solute carrier family 9, isoform 10", "solute carrier family 9, member 10"	SLC9A10		12783626	Standard	NM_183061		Approved	NHE	uc003dyu.3	Q4G0N8	OTTHUMG00000159245	ENST00000305815.5:c.2519A>G	3.37:g.111918172T>C	ENSP00000306627:p.Asn840Ser					SLC9C1_ENST00000487372.1_Missense_Mutation_p.N792S	p.N840S	NM_183061.1	NP_898884.1	Q4G0N8	S9A10_HUMAN			20	2771	-			840					Q6ZRP4|Q7RTP2	Missense_Mutation	SNP	ENST00000305815.5	37	c.2519A>G	CCDS33817.1	.	.	.	.	.	.	.	.	.	.	T	2.486	-0.318607	0.05386	.	.	ENSG00000172139	ENST00000305815;ENST00000487372	T;T	0.77358	-1.08;-1.09	5.73	1.95	0.26073	.	0.416957	0.22445	N	0.059977	T	0.65688	0.2715	L	0.45051	1.395	0.09310	N	0.999999	B;B	0.17667	0.023;0.001	B;B	0.23018	0.043;0.002	T	0.51474	-0.8701	10	0.30854	T	0.27	.	5.6414	0.17567	0.1289:0.1545:0.0:0.7166	.	792;840	Q4G0N8-2;Q4G0N8	.;S9A10_HUMAN	S	840;792	ENSP00000306627:N840S;ENSP00000420688:N792S	ENSP00000306627:N840S	N	-	2	0	SLC9A10	113400862	0.838000	0.29461	0.592000	0.28758	0.004000	0.04260	0.483000	0.22292	-0.139000	0.11414	-1.139000	0.01908	AAT		0.308	SLC9C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354066.1	NM_183061		11	127	0	0	0	1	0	11	127					C	111918172	T	C	111918172	3	2	352	1	0	0	0	0	1	0	0	0	14710	1493	52	4	1054	4	SLC9A10	3	111918172	Missense_Mutation	SNP	T	TCGA-M7-A720-01A-12D-A32B-08	62905760	111918172	86104258	5	17699											
WASF1	8936	broad.mit.edu	37	chr6	110422901	110422901	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cttgtgatggaggagatggaGgcattaatggaacatgggga	12	9	17	3	0	0	2	0	1	0	1	0	7	0	6	0	7	1	1	0	7	2	2	rs150788183		TCGA-M7-A720-01A-12D-A32B-08	TCGA-M7-A720-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cba5884-4340-40e8-a83c-7377f5436f29	cd75bca3-514a-46d7-9c45-64d7da925e78	g.chr6:110422901G>A	ENST00000392589.1	-	10	2248	c.1412C>T	c.(1411-1413)cCt>cTt	p.P471L	WASF1_ENST00000392586.1_Missense_Mutation_p.P471L|WASF1_ENST00000392587.2_Missense_Mutation_p.P471L|WASF1_ENST00000359451.2_Missense_Mutation_p.P471L|WASF1_ENST00000392588.1_Missense_Mutation_p.P471L	NM_003931.2	NP_003922.1	Q92558	WASF1_HUMAN	WAS protein family, member 1	471					actin filament polymerization (GO:0030041)|cellular component movement (GO:0006928)|lamellipodium morphogenesis (GO:0072673)|positive regulation of Arp2/3 complex-mediated actin nucleation (GO:2000601)|protein complex assembly (GO:0006461)|Rac protein signal transduction (GO:0016601)	actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|cytoskeleton (GO:0005856)|lamellipodium (GO:0030027)|mitochondrial outer membrane (GO:0005741)|SCAR complex (GO:0031209)|synapse (GO:0045202)	protein complex binding (GO:0032403)			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	16		all_cancers(87;1.18e-05)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00159)|Colorectal(196;0.0488)		OV - Ovarian serous cystadenocarcinoma(136;0.0364)|Epithelial(106;0.051)|all cancers(137;0.0687)		AGGAGATGGAGGCATTAATGG	0.517													G|||	1	0.000199681	0	0	5008	,	,		16673	0.001		0	False		,,,				2504	0					ENST00000392589.1																			0				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	16						c.(1411-1413)cCt>cTt		WAS protein family, member 1							191	183	185					6																	110422901		2203	4300	6503	SO:0001583	missense	8936				actin filament polymerization|cellular component movement	actin cytoskeleton	actin binding	g.chr6:110422901G>A	D87459	CCDS5080.1	6q21	2010-08-20			ENSG00000112290	ENSG00000112290		"A-kinase anchor proteins"	12732	protein-coding gene	gene with protein product		605035				9843499, 9889097	Standard	XM_005267204		Approved	WAVE1, SCAR1, KIAA0269, WAVE	uc003pty.1	Q92558	OTTHUMG00000015357	ENST00000392589.1:c.1412C>T	6.37:g.110422901G>A	ENSP00000376368:p.Pro471Leu					WASF1_ENST00000392587.2_Missense_Mutation_p.P471L|WASF1_ENST00000359451.2_Missense_Mutation_p.P471L|WASF1_ENST00000392586.1_Missense_Mutation_p.P471L|WASF1_ENST00000392588.1_Missense_Mutation_p.P471L	p.P471L	NM_003931.2	NP_003922.1	Q92558	WASF1_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.0364)|Epithelial(106;0.051)|all cancers(137;0.0687)	10	2248	-		all_cancers(87;1.18e-05)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00159)|Colorectal(196;0.0488)	471					E1P5F2|Q5SZK7	Missense_Mutation	SNP	ENST00000392589.1	37	c.1412C>T	CCDS5080.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	18.12	3.552522	0.65425	.	.	ENSG00000112290	ENST00000392586;ENST00000392587;ENST00000392589;ENST00000392588;ENST00000359451	T;T;T;T;T	0.47528	0.84;0.84;0.84;0.84;0.84	5.86	5.86	0.93980	.	0.311397	0.40469	N	0.001096	T	0.17195	0.0413	N	0.08118	0	0.58432	D	0.999991	B	0.25667	0.131	B	0.21546	0.035	T	0.06698	-1.0812	10	0.24483	T	0.36	.	18.3575	0.90362	0.0:0.0:1.0:0.0	.	471	Q92558	WASF1_HUMAN	L	471	ENSP00000376365:P471L;ENSP00000376366:P471L;ENSP00000376368:P471L;ENSP00000376367:P471L;ENSP00000352425:P471L	ENSP00000352425:P471L	P	-	2	0	WASF1	110529594	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.333000	0.72939	2.773000	0.95371	0.655000	0.94253	CCT		0.517	WASF1-203	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041784.3	NM_003931		8	160	0	0	0	1	0	8	160					A	110422901	G	A	110422901	3	1	352	1	0	0	0	0	1	0	0	0	17249	1000	35	3	275	3	WASF1	6	110422901	Missense_Mutation	SNP	G	TCGA-M7-A720-01A-12D-A32B-08		110422901	60692166	6	17700											
IQCE	23288	broad.mit.edu	37	chr7	2618125	2618125	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cacagggcacggattttgttCggactctggcagagaaaagg	11	8	14	8	2	1	1	0	0	1	1	2	4	1	3	0	5	0	3	0	5	2	3			TCGA-M7-A720-01A-12D-A32B-08	TCGA-M7-A720-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cba5884-4340-40e8-a83c-7377f5436f29	cd75bca3-514a-46d7-9c45-64d7da925e78	g.chr7:2618125C>T	ENST00000402050.2	+	8	779	c.595C>T	c.(595-597)Cgg>Tgg	p.R199W	IQCE_ENST00000325979.7_Missense_Mutation_p.R134W|IQCE_ENST00000404984.1_Missense_Mutation_p.R148W|IQCE_ENST00000438376.2_Missense_Mutation_p.R183W	NM_001100390.1|NM_152558.3	NP_001093860.1|NP_689771.3	Q6IPM2	IQCE_HUMAN	IQ motif containing E	199						mitochondrion (GO:0005739)				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		Ovarian(82;0.0112)		OV - Ovarian serous cystadenocarcinoma(56;1.23e-13)		GGATTTTGTTCGGACTCTGGC	0.592																																						ENST00000402050.2																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						c.(595-597)Cgg>Tgg		IQ motif containing E							102	114	110					7																	2618125		2028	4187	6215	SO:0001583	missense	23288							g.chr7:2618125C>T	AL136792	CCDS43542.1, CCDS47527.1, CCDS47527.2, CCDS75559.1, CCDS75560.1	7p22.3	2006-04-12			ENSG00000106012	ENSG00000106012			29171	protein-coding gene	gene with protein product						10470851	Standard	XR_242067		Approved	KIAA1023	uc003smo.4	Q6IPM2	OTTHUMG00000152047	ENST00000402050.2:c.595C>T	7.37:g.2618125C>T	ENSP00000385597:p.Arg199Trp					IQCE_ENST00000404984.1_Missense_Mutation_p.R148W|IQCE_ENST00000438376.2_Missense_Mutation_p.R183W|IQCE_ENST00000325979.7_Missense_Mutation_p.R134W	p.R199W	NM_001100390.1|NM_152558.3	NP_001093860.1|NP_689771.3	Q6IPM2	IQCE_HUMAN		OV - Ovarian serous cystadenocarcinoma(56;1.23e-13)	8	779	+		Ovarian(82;0.0112)	199					Q4G0P7|Q6P7T4|Q9H0H7|Q9UPX7	Missense_Mutation	SNP	ENST00000402050.2	37	c.595C>T	CCDS43542.1	.	.	.	.	.	.	.	.	.	.	C	18.13	3.555045	0.65425	.	.	ENSG00000106012	ENST00000402050;ENST00000404984;ENST00000415271;ENST00000438376;ENST00000325979	T;T;T;T;T	0.11063	2.81;2.81;2.81;2.81;2.81	5.39	5.39	0.77823	.	0.127295	0.53938	D	0.000048	T	0.29093	0.0723	M	0.74258	2.255	0.42764	D	0.99381	D;D;D;P;D;D	0.89917	0.983;0.983;0.996;0.92;0.983;1.0	P;P;P;P;P;D	0.91635	0.618;0.618;0.858;0.604;0.618;0.999	T	0.02728	-1.1118	10	0.72032	D	0.01	-32.1778	7.1842	0.25791	0.1713:0.7432:0.0:0.0856	.	134;183;134;199;199;183	B4DXN1;B4DDX4;Q6IPM2-2;Q6IPM2;B3KRY4;Q6IPM2-4	.;.;.;IQCE_HUMAN;.;.	W	199;148;235;183;134	ENSP00000385597:R199W;ENSP00000385945:R148W;ENSP00000404643:R235W;ENSP00000396178:R183W;ENSP00000313772:R134W	ENSP00000313772:R134W	R	+	1	2	IQCE	2584651	0.961000	0.32948	0.937000	0.37676	0.885000	0.51271	1.307000	0.33516	2.524000	0.85096	0.655000	0.94253	CGG		0.592	IQCE-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000325063.2	NM_152558		4	118	0	0	0	1	0	4	118					T	2618125	C	T	2618125	3	4	352	1	0	0	0	0	1	0	0	0	7806	875	31	2	625	2	IQCE	7	2618125	Missense_Mutation	SNP	C	TCGA-M7-A720-01A-12D-A32B-08		2618125	156520538	7	17701											
ASB15	142685	broad.mit.edu	37	chr7	123269330	123269330	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcattcaatatgctctaaacGacgaggtaatgctgaggcta	13	11	9	8	2	3	1	2	1	1	0	3	3	3	1	0	2	3	4	0	2	6	5			TCGA-M7-A720-01A-12D-A32B-08	TCGA-M7-A720-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cba5884-4340-40e8-a83c-7377f5436f29	cd75bca3-514a-46d7-9c45-64d7da925e78	g.chr7:123269330G>A	ENST00000451558.1	+	12	1803	c.1282G>A	c.(1282-1284)Gac>Aac	p.D428N	ASB15_ENST00000275699.3_Missense_Mutation_p.D428N|ASB15_ENST00000434204.1_Missense_Mutation_p.D428N|ASB15_ENST00000540573.1_Missense_Mutation_p.D428N|ASB15_ENST00000451215.1_Missense_Mutation_p.D428N			Q8WXK1	ASB15_HUMAN	ankyrin repeat and SOCS box containing 15	428					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)					breast(1)|kidney(1)|large_intestine(1)|lung(6)|skin(3)	12						TGCTCTAAACGACGAGGTAAT	0.418																																						ENST00000451558.1																			0				breast(1)|kidney(1)|large_intestine(1)|lung(6)|skin(3)	12						c.(1282-1284)Gac>Aac		ankyrin repeat and SOCS box containing 15							191	175	180					7																	123269330		2203	4300	6503	SO:0001583	missense	142685				intracellular signal transduction			g.chr7:123269330G>A	AF403033	CCDS34742.1	7q31.31	2013-01-10	2011-01-25		ENSG00000146809	ENSG00000146809		"Ankyrin repeat domain containing"	19767	protein-coding gene	gene with protein product			"ankyrin repeat and SOCS box-containing 15"			12076535	Standard	XM_005250149		Approved	FLJ43370	uc003vkw.1	Q8WXK1	OTTHUMG00000157114	ENST00000451558.1:c.1282G>A	7.37:g.123269330G>A	ENSP00000397655:p.Asp428Asn					ASB15_ENST00000434204.1_Missense_Mutation_p.D428N|ASB15_ENST00000540573.1_Missense_Mutation_p.D428N|ASB15_ENST00000275699.3_Missense_Mutation_p.D428N|ASB15_ENST00000451215.1_Missense_Mutation_p.D428N	p.D428N			Q8WXK1	ASB15_HUMAN			12	1803	+			428					Q3ZCP3|Q3ZCP5|Q68D37	Missense_Mutation	SNP	ENST00000451558.1	37	c.1282G>A	CCDS34742.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.245712	0.80024	.	.	ENSG00000146809	ENST00000451558;ENST00000434204;ENST00000451215;ENST00000540573;ENST00000542545;ENST00000275699	T;T;T;T;T	0.68765	-0.35;-0.35;-0.35;-0.35;-0.35	6.17	6.17	0.99709	Ankyrin repeat-containing domain (2);	0.000000	0.85682	D	0.000000	T	0.81178	0.4768	M	0.76170	2.325	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.73164	-0.4069	10	0.09843	T	0.71	-21.6017	20.8794	0.99867	0.0:0.0:1.0:0.0	.	428	Q8WXK1	ASB15_HUMAN	N	428;428;428;428;217;428	ENSP00000397655:D428N;ENSP00000390963:D428N;ENSP00000416433:D428N;ENSP00000438643:D428N;ENSP00000275699:D428N	ENSP00000275699:D428N	D	+	1	0	ASB15	123056566	1.000000	0.71417	0.982000	0.44146	0.549000	0.35272	9.379000	0.97198	2.941000	0.99782	0.655000	0.94253	GAC		0.418	ASB15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347493.1			4	280	0	0	0	1	0	4	280					A	123269330	G	A	123269330	3	1	352	1	0	0	0	0	1	0	0	0	1019	1058	37	2	1308	2	ASB15	7	123269330	Missense_Mutation	SNP	G	TCGA-M7-A720-01A-12D-A32B-08	120651205	123269330	35869333	8	17702											
MORN4	118812	broad.mit.edu	37	chr10	99376044	99376044	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagtgagatttctggctgaCttggaggcgctctgggcccg	5	10	16	10	2	2	2	0	2	2	1	2	4	2	3	1	4	0	3	1	4	0	2			TCGA-M7-A720-01A-12D-A32B-08	TCGA-M7-A720-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cba5884-4340-40e8-a83c-7377f5436f29	cd75bca3-514a-46d7-9c45-64d7da925e78	g.chr10:99376044C>T	ENST00000307450.6	-	5	580	c.417G>A	c.(415-417)aaG>aaA	p.K139K	PI4K2A_ENST00000370649.3_Intron|MORN4_ENST00000335628.3_Silent_p.K197K|PI4K2A_ENST00000555577.1_Intron|MORN4_ENST00000478953.1_3'UTR	NM_001098831.1|NM_178832.3	NP_001092301.1|NP_849154.1	Q8NDC4	MORN4_HUMAN	MORN repeat containing 4	139										large_intestine(1)|lung(1)|stomach(2)	4						TTCTGGCTGACTTGGAGGCGC	0.527																																						ENST00000335628.3																			0				large_intestine(1)|lung(1)|stomach(2)	4						c.(589-591)aaG>aaA		MORN repeat containing 4							60	58	59					10																	99376044		2203	4300	6503	SO:0001819	synonymous_variant	118812							g.chr10:99376044C>T	AJ431726	CCDS7468.1	10q24.2	2008-06-23	2008-06-23	2008-06-23	ENSG00000171160	ENSG00000171160			24001	protein-coding gene	gene with protein product	"44050 protein"		"chromosome 10 open reading frame 83"	C10orf83		12477932	Standard	NM_178832		Approved	bA548K23.4, FLJ25925	uc001koe.3	Q8NDC4	OTTHUMG00000018861	ENST00000307450.6:c.417G>A	10.37:g.99376044C>T						PI4K2A_ENST00000370649.3_Intron|MORN4_ENST00000307450.6_Silent_p.K139K|PI4K2A_ENST00000555577.1_Intron|MORN4_ENST00000478953.1_3'UTR	p.K197K			Q8NDC4	MORN4_HUMAN			4	590	-			139					Q86Y54	Silent	SNP	ENST00000307450.6	37	c.591G>A	CCDS7468.1																																																																																				0.527	MORN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049730.1	NM_178832		7	54	0	0	0	1	0	7	54					T	99376044	C	T	99376044	2	4	352	1	0	0	0	0	0	0	0	1	9710	564	20	3		3	MORN4	10	99376044	Silent	SNP	C	TCGA-M7-A720-01A-12D-A32B-08		99376044	36158703	9	17703											
FEN1	2237	broad.mit.edu	37	chr11	61563274	61563274	+	Silent	SNP	C	C	T																															tgcaaacatctgctgagcctCatgggcatcccttatcttga																										TCGA-M7-A720-01A-12D-A32B-08	TCGA-M7-A720-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cba5884-4340-40e8-a83c-7377f5436f29	cd75bca3-514a-46d7-9c45-64d7da925e78	g.chr11:61563274C>T	ENST00000305885.2	+	2	854	c.441C>T	c.(439-441)ctC>ctT	p.L147L	TMEM258_ENST00000543510.1_5'Flank|FADS2_ENST00000574708.1_Intron	NM_004111.5	NP_004102.1			flap structure-specific endonuclease 1											endometrium(1)|large_intestine(4)|lung(1)|ovary(1)	7						TGCTGAGCCTCATGGGCATCC	0.567								Editing and processing nucleases																														ENST00000305885.2																			0				endometrium(1)|large_intestine(4)|lung(1)|ovary(1)	7						c.(439-441)ctC>ctT	Editing and processing nucleases	flap structure-specific endonuclease 1							54	55	55					11																	61563274		2202	4299	6501	SO:0001819	synonymous_variant	2237				base-excision repair|DNA replication, removal of RNA primer|double-strand break repair|phosphatidylinositol-mediated signaling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|UV protection	mitochondrion|nucleolus|nucleoplasm	5'-3' exonuclease activity|5'-flap endonuclease activity|damaged DNA binding|double-stranded DNA binding|double-stranded DNA specific exodeoxyribonuclease activity|metal ion binding|protein binding|ribonuclease H activity	g.chr11:61563274C>T	L37374	CCDS8010.1	11q12	2013-05-08			ENSG00000168496	ENSG00000168496			3650	protein-coding gene	gene with protein product	"maturation factor-1", "DNase IV"	600393		RAD2		7774922	Standard	NM_004111		Approved	FEN-1, MF1	uc001nsg.3	P39748	OTTHUMG00000168162	ENST00000305885.2:c.441C>T	11.37:g.61563274C>T						FADS2_ENST00000574708.1_Intron	p.L147L	NM_004111.5	NP_004102.1	P39748	FEN1_HUMAN			2	854	+			147			I-domain.			Silent	SNP	ENST00000305885.2	37	c.441C>T	CCDS8010.1																																																																																				0.567	FEN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398526.1	NM_004111		8	101	0	0	0	1	0	8	101					T	61563274	C	T	61563274	2	4	352	1	0	0	0	0	0	0	0	1	5812	813	29	3		3	FEN1	11	61563274	Silent	SNP	C	TCGA-M7-A720-01A-12D-A32B-08		61563274	73443242	10	17704	91	2									
FEN1	2237	broad.mit.edu	37	chr11	61563280	61563280	+	Silent	SNP	C	C	A																															catctgctgagcctcatgggCatcccttatcttgatgcacc																										TCGA-M7-A720-01A-12D-A32B-08	TCGA-M7-A720-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cba5884-4340-40e8-a83c-7377f5436f29	cd75bca3-514a-46d7-9c45-64d7da925e78	g.chr11:61563280C>A	ENST00000305885.2	+	2	860	c.447C>A	c.(445-447)ggC>ggA	p.G149G	FADS2_ENST00000574708.1_Intron	NM_004111.5	NP_004102.1			flap structure-specific endonuclease 1											endometrium(1)|large_intestine(4)|lung(1)|ovary(1)	7						GCCTCATGGGCATCCCTTATC	0.567								Editing and processing nucleases																														ENST00000305885.2																			0				endometrium(1)|large_intestine(4)|lung(1)|ovary(1)	7						c.(445-447)ggC>ggA	Editing and processing nucleases	flap structure-specific endonuclease 1							56	57	57					11																	61563280		2202	4299	6501	SO:0001819	synonymous_variant	2237				base-excision repair|DNA replication, removal of RNA primer|double-strand break repair|phosphatidylinositol-mediated signaling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|UV protection	mitochondrion|nucleolus|nucleoplasm	5'-3' exonuclease activity|5'-flap endonuclease activity|damaged DNA binding|double-stranded DNA binding|double-stranded DNA specific exodeoxyribonuclease activity|metal ion binding|protein binding|ribonuclease H activity	g.chr11:61563280C>A	L37374	CCDS8010.1	11q12	2013-05-08			ENSG00000168496	ENSG00000168496			3650	protein-coding gene	gene with protein product	"maturation factor-1", "DNase IV"	600393		RAD2		7774922	Standard	NM_004111		Approved	FEN-1, MF1	uc001nsg.3	P39748	OTTHUMG00000168162	ENST00000305885.2:c.447C>A	11.37:g.61563280C>A						FADS2_ENST00000574708.1_Intron	p.G149G	NM_004111.5	NP_004102.1	P39748	FEN1_HUMAN			2	860	+			149			I-domain.			Silent	SNP	ENST00000305885.2	37	c.447C>A	CCDS8010.1																																																																																				0.567	FEN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398526.1	NM_004111		9	95	1	0	1.12685e-05	1	1.17926e-05	9	95					A	61563280	C	A	61563280	2	1	352	1	0	0	0	0	0	0	0	1	5812	697	25	5		5	FEN1	11	61563280	Silent	SNP	C	TCGA-M7-A720-01A-12D-A32B-08	6	61563280	73443236	11	17705	91	2									
CARNS1	57571	broad.mit.edu	37	chr11	67191326	67191326	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agcacttttcccggattaccCgagacttgcagggcgaggcc	8	8	12	13	3	0	1	0	0	0	1	1	4	1	2	3	3	3	2	3	3	1	4			TCGA-M7-A720-01A-12D-A32B-08	TCGA-M7-A720-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cba5884-4340-40e8-a83c-7377f5436f29	cd75bca3-514a-46d7-9c45-64d7da925e78	g.chr11:67191326C>T	ENST00000307823.3	+	9	2190	c.1738C>T	c.(1738-1740)Cga>Tga	p.R580*	CARNS1_ENST00000531040.1_Nonsense_Mutation_p.R677*|CARNS1_ENST00000445895.2_Nonsense_Mutation_p.R703*|CARNS1_ENST00000423745.2_Nonsense_Mutation_p.R580*	NM_020811.1	NP_065862.1	A5YM72	CRNS1_HUMAN	carnosine synthase 1	580	ATP-grasp. {ECO:0000255|PROSITE- ProRule:PRU00409}.				ATP catabolic process (GO:0006200)|carnosine biosynthetic process (GO:0035499)		ATP binding (GO:0005524)|ATPase activity (GO:0016887)|carnosine synthase activity (GO:0047730)|metal ion binding (GO:0046872)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(7)	11						CCGGATTACCCGAGACTTGCA	0.632																																						ENST00000445895.2																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(7)	11						c.(2107-2109)Cga>Tga		carnosine synthase 1							68	74	72					11																	67191326		2133	4237	6370	SO:0001587	stop_gained	57571				carnosine biosynthetic process		ATP binding|carnosine synthase activity|metal ion binding	g.chr11:67191326C>T		CCDS44658.1, CCDS53667.1	11q13.1	2010-03-25	2010-03-25	2010-03-25	ENSG00000172508	ENSG00000172508			29268	protein-coding gene	gene with protein product		613368	"ATP-grasp domain containing 1"	ATPGD1		20097752	Standard	NM_020811		Approved	KIAA1394	uc010rpr.2	A5YM72		ENST00000307823.3:c.1738C>T	11.37:g.67191326C>T	ENSP00000308268:p.Arg580*					CARNS1_ENST00000307823.3_Nonsense_Mutation_p.R580*|CARNS1_ENST00000531040.1_Nonsense_Mutation_p.R677*|CARNS1_ENST00000423745.2_Nonsense_Mutation_p.R580*	p.R703*			A5YM72	CRNS1_HUMAN			9	2221	+			580			ATP-grasp.		A8K1M3|B4DFC6|E9PK38|F5H427|Q8N467|Q9P2F3	Nonsense_Mutation	SNP	ENST00000307823.3	37	c.2107C>T	CCDS44658.1	.	.	.	.	.	.	.	.	.	.	C	37	6.628568	0.97718	.	.	ENSG00000172508	ENST00000531040;ENST00000307823;ENST00000542831;ENST00000423745;ENST00000445895	.	.	.	5.12	5.12	0.69794	.	0.320888	0.22559	N	0.058485	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.07325	T	0.83	-8.9945	11.2225	0.48864	0.1831:0.8169:0.0:0.0	.	.	.	.	X	677;580;677;580;703	.	ENSP00000308268:R580X	R	+	1	2	CARNS1	66947902	0.001000	0.12720	0.128000	0.21923	0.761000	0.43186	1.225000	0.32551	2.398000	0.81561	0.549000	0.68633	CGA		0.632	CARNS1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000395501.1	NM_020811		3	45	0	0	0	1	0	3	45					T	67191326	C	T	67191326	4	4	352	1	0	0	0	0	0	1	0	0	2656	644	23	2	2141	2	CARNS1	11	67191326	Nonsense_Mutation	SNP	C	TCGA-M7-A720-01A-12D-A32B-08	5628046	67191326	67815190	12	17706											
PCSK7	9159	broad.mit.edu	37	chr11	117090340	117090340	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagacaatgatgtgctggacGtcacgccacgtgaggcaggg	11	6	15	9	3	1	3	1	2	0	1	1	4	1	4	1	3	1	2	1	3	2	0			TCGA-M7-A720-01A-12D-A32B-08	TCGA-M7-A720-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cba5884-4340-40e8-a83c-7377f5436f29	cd75bca3-514a-46d7-9c45-64d7da925e78	g.chr11:117090340G>A	ENST00000320934.3	-	10	1920	c.1290C>T	c.(1288-1290)gaC>gaT	p.D430D	PCSK7_ENST00000540028.1_Silent_p.D71D	NM_004716.2	NP_004707.2	Q16549	PCSK7_HUMAN	proprotein convertase subtilisin/kexin type 7	430	Peptidase S8.				peptide hormone processing (GO:0016486)|protein processing (GO:0016485)	integral component of Golgi membrane (GO:0030173)	peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)			NS(1)|endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|skin(1)	16	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.72e-06)|Epithelial(105;6.71e-05)|all cancers(92;0.000537)		TGTGCTGGACGTCACGCCACG	0.627			T	IGH@	MLCLS																																	ENST00000320934.3				Dom	yes		11	11q23.3	9159	T	proprotein convertase subtilisin/kexin type 7			L	IGH@		MLCLS		0				NS(1)|endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|skin(1)	16						c.(1288-1290)gaC>gaT		proprotein convertase subtilisin/kexin type 7							63	49	54					11																	117090340		2201	4296	6497	SO:0001819	synonymous_variant	9159				peptide hormone processing	integral to Golgi membrane	serine-type endopeptidase activity	g.chr11:117090340G>A	U40623	CCDS8382.1	11q23-q24	2008-02-01			ENSG00000160613	ENSG00000160613			8748	protein-coding gene	gene with protein product		604872				8615762, 9820811	Standard	XM_006718938		Approved	PC7, PC8, LPC, SPC7	uc001pqr.3	Q16549	OTTHUMG00000165640	ENST00000320934.3:c.1290C>T	11.37:g.117090340G>A						PCSK7_ENST00000540028.1_Silent_p.D71D	p.D430D	NM_004716.2	NP_004707.2	Q16549	PCSK7_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.72e-06)|Epithelial(105;6.71e-05)|all cancers(92;0.000537)	10	1920	-	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)	430			Catalytic.		B0YJ60|Q3C1X1|Q53GM4|Q96FK8|Q9UL57	Silent	SNP	ENST00000320934.3	37	c.1290C>T	CCDS8382.1																																																																																				0.627	PCSK7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385529.2	NM_004716		4	48	0	0	0	1	0	4	48					A	117090340	G	A	117090340	2	1	352	1	0	0	0	0	0	0	0	1	11605	1136	40	1		1	PCSK7	11	117090340	Silent	SNP	G	TCGA-M7-A720-01A-12D-A32B-08	49899014	117090340	17916176	13	17707											
RAPGEF3	10411	broad.mit.edu	37	chr12	48151714	48151714	+	Frame_Shift_Del	DEL	G	G	-																															cagctggtaggagcagcttcGgggccggtgcatccttctca																										TCGA-M7-A720-01A-12D-A32B-08	TCGA-M7-A720-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cba5884-4340-40e8-a83c-7377f5436f29	cd75bca3-514a-46d7-9c45-64d7da925e78	g.chr12:48151714delG	ENST00000449771.2	-	2	242	c.154delC	c.(154-156)cgafs	p.R52fs	RAPGEF3_ENST00000548919.1_Frame_Shift_Del_p.R10fs|RAPGEF3_ENST00000405493.2_Frame_Shift_Del_p.R10fs|SLC48A1_ENST00000547002.1_5'Flank|RAPGEF3_ENST00000549151.1_Frame_Shift_Del_p.R10fs|RAPGEF3_ENST00000549347.1_5'UTR|RAPGEF3_ENST00000171000.4_Frame_Shift_Del_p.R10fs|RAPGEF3_ENST00000395358.3_Frame_Shift_Del_p.R52fs|RAPGEF3_ENST00000389212.3_Frame_Shift_Del_p.R52fs			O95398	RPGF3_HUMAN	Rap guanine nucleotide exchange factor (GEF) 3	52					angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cAMP-mediated signaling (GO:0019933)|cell proliferation (GO:0008283)|cellular response to cAMP (GO:0071320)|energy reserve metabolic process (GO:0006112)|establishment of endothelial barrier (GO:0061028)|platelet activation (GO:0030168)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cAMP catabolic process (GO:0030822)|positive regulation of Rap GTPase activity (GO:0032854)|positive regulation of stress fiber assembly (GO:0051496)|Rap protein signal transduction (GO:0032486)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cAMP-dependent protein kinase complex (GO:0005952)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|cAMP-dependent protein kinase regulator activity (GO:0008603)|guanyl-nucleotide exchange factor activity (GO:0005085)|Rap guanyl-nucleotide exchange factor activity (GO:0017034)			endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|pancreas(1)|prostate(1)|skin(7)	25	Lung SC(27;0.192)			GBM - Glioblastoma multiforme(48;0.0375)		GAGCAGCTTCGGGGCCGGTGC	0.662																																						ENST00000405493.2																			0				endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|pancreas(1)|prostate(1)|skin(7)	25						c.(28-30)gafs		Rap guanine nucleotide exchange factor (GEF) 3							27	22	24					12																	48151714		2183	4267	6450	SO:0001589	frameshift_variant	10411				regulation of protein phosphorylation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cAMP-dependent protein kinase complex	cAMP-dependent protein kinase regulator activity|guanyl-nucleotide exchange factor activity	g.chr12:48151714delG	AK092448	CCDS31784.1, CCDS41775.1	12q13.1	2006-04-12	2004-03-26		ENSG00000079337	ENSG00000079337			16629	protein-coding gene	gene with protein product	"exchange protein directly activated by cAMP 1"	606057	"RAP guanine-nucleotide-exchange factor (GEF) 3"			10777494, 9856955	Standard	NM_001098531		Approved	cAMP-GEFI, EPAC, bcm910	uc001rpz.4	O95398	OTTHUMG00000133667	ENST00000449771.2:c.154delC	12.37:g.48151714delG	ENSP00000395708:p.Arg52fs					RAPGEF3_ENST00000395358.3_Frame_Shift_Del_p.R52fs|RAPGEF3_ENST00000389212.3_Frame_Shift_Del_p.R52fs|RAPGEF3_ENST00000449771.2_Frame_Shift_Del_p.R52fs|RAPGEF3_ENST00000548919.1_Frame_Shift_Del_p.R10fs|RAPGEF3_ENST00000549151.1_Frame_Shift_Del_p.R10fs|RAPGEF3_ENST00000549347.1_5'UTR|RAPGEF3_ENST00000171000.4_Frame_Shift_Del_p.R10fs	p.R10fs	NM_001098532.2|NM_006105.5	NP_001092002.1|NP_006096.2	A8K2G5	A8K2G5_HUMAN		GBM - Glioblastoma multiforme(48;0.0375)	2	237	-	Lung SC(27;0.192)		10					A8K2G5|E7EQC8|O95634|Q8WVN0	Frame_Shift_Del	DEL	ENST00000449771.2	37	c.28delC	CCDS41775.1																																																																																				0.662	RAPGEF3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257848.1	NM_006105		2	4						2	4	---	---	---	---	-	48151714	G	-	48151714	7	5	352	1	0	1	0	1	0	0	0	0	13045	1124	39	0	2725	0	RAPGEF3	12	48151714	Frame_Shift_Del	DEL	G	TCGA-M7-A720-01A-12D-A32B-08		48151714	85700181	14	17708											
OR5AU1	390445	broad.mit.edu	37	chr14	21624014	21624014	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcaaactccatcccttggctCaggtttgcccctttcatcct	6	14	5	16	0	3	0	3	0	0	0	6	0	6	0	5	2	2	2	5	2	1	3			TCGA-M7-A720-01A-12D-A32B-08	TCGA-M7-A720-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cba5884-4340-40e8-a83c-7377f5436f29	cd75bca3-514a-46d7-9c45-64d7da925e78	g.chr14:21624014C>G	ENST00000304418.3	-	1	208	c.171G>C	c.(169-171)ctG>ctC	p.L57L		NM_001004731.1	NP_001004731.1	Q8NGC0	O5AU1_HUMAN	olfactory receptor, family 5, subfamily AU, member 1	57						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(12)|pancreas(1)	21	all_cancers(95;0.00238)		Epithelial(56;6.88e-07)|all cancers(55;6.02e-06)	GBM - Glioblastoma multiforme(265;0.0192)		TCCCTTGGCTCAGGTTTGCCC	0.552																																						ENST00000304418.3																			0				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(12)|pancreas(1)	21						c.(169-171)ctG>ctC		olfactory receptor, family 5, subfamily AU, member 1							148	123	131					14																	21624014		2203	4300	6503	SO:0001819	synonymous_variant	390445				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:21624014C>G	AL157687	CCDS32042.1	14q11.2	2013-09-23			ENSG00000169327	ENSG00000169327		"GPCR / Class A : Olfactory receptors"	15362	protein-coding gene	gene with protein product							Standard	NM_001004731		Approved		uc010tlp.2	Q8NGC0	OTTHUMG00000170753	ENST00000304418.3:c.171G>C	14.37:g.21624014C>G							p.L57L	NM_001004731.1	NP_001004731.1	Q8NGC0	O5AU1_HUMAN	Epithelial(56;6.88e-07)|all cancers(55;6.02e-06)	GBM - Glioblastoma multiforme(265;0.0192)	1	208	-	all_cancers(95;0.00238)		57					B2RP78|Q6IEU2|Q96R10	Silent	SNP	ENST00000304418.3	37	c.171G>C	CCDS32042.1																																																																																				0.552	OR5AU1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410213.1			4	99	0	0	0	1	0	4	99					G	21624014	C	G	21624014	2	3	352	1	0	0	0	0	0	0	0	1	11147	813	29	5		5	OR5AU1	14	21624014	Silent	SNP	C	TCGA-M7-A720-01A-12D-A32B-08		21624014	85725526	15	17709											
OR4N4	283694	broad.mit.edu	37	chr15	22382965	22382965	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tccaggtggtcctcatcctcCgcttgcctttttgtggccca	3	14	9	15	1	1	0	1	0	0	0	5	0	5	0	6	3	1	1	6	3	0	3			TCGA-M7-A720-01A-12D-A32B-08	TCGA-M7-A720-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cba5884-4340-40e8-a83c-7377f5436f29	cd75bca3-514a-46d7-9c45-64d7da925e78	g.chr15:22382965C>T	ENST00000328795.4	+	1	584	c.493C>T	c.(493-495)Cgc>Tgc	p.R165C	RP11-69H14.6_ENST00000558896.1_RNA	NM_001005241.2	NP_001005241.2	Q8N0Y3	OR4N4_HUMAN	olfactory receptor, family 4, subfamily N, member 4	165						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R165S(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(19)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	40		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		CCTCATCCTCCGCTTGCCTTT	0.517																																						ENST00000328795.4																			1	Substitution - Missense(1)	p.R165S(1)	lung(1)	breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(19)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	40						c.(493-495)Cgc>Tgc		olfactory receptor, family 4, subfamily N, member 4							88	74	79					15																	22382965		2185	4255	6440	SO:0001583	missense	283694				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr15:22382965C>T	AI018459	CCDS32173.1	15q11.2	2012-08-09				ENSG00000183706		"GPCR / Class A : Olfactory receptors"	15375	protein-coding gene	gene with protein product							Standard	NM_001005241		Approved		uc010tzv.2	Q8N0Y3		ENST00000328795.4:c.493C>T	15.37:g.22382965C>T	ENSP00000332500:p.Arg165Cys					RP11-69H14.6_ENST00000558896.1_RNA	p.R165C	NM_001005241.2	NP_001005241.2	Q8N0Y3	OR4N4_HUMAN	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)	1	584	+		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	165					Q6IEY3|Q6IF56	Missense_Mutation	SNP	ENST00000328795.4	37	c.493C>T	CCDS32173.1	.	.	.	.	.	.	.	.	.	.	.	2.509	-0.313508	0.05422	.	.	ENSG00000183706	ENST00000328795	T	0.00188	8.59	3.37	2.4	0.29515	GPCR, rhodopsin-like superfamily (1);	0.132210	0.35151	N	0.003417	T	0.00178	0.0005	L	0.46157	1.445	0.09310	N	1	B	0.22800	0.075	B	0.24269	0.052	T	0.31861	-0.9928	10	0.54805	T	0.06	-0.1645	8.0468	0.30553	0.4391:0.5609:0.0:0.0	.	165	Q8N0Y3	OR4N4_HUMAN	C	165	ENSP00000332500:R165C	ENSP00000332500:R165C	R	+	1	0	OR4N4	19884329	0.000000	0.05858	0.956000	0.39512	0.268000	0.26511	-1.328000	0.02680	0.689000	0.31550	0.404000	0.27445	CGC		0.517	OR4N4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414922.1			7	484	0	0	0	1	0	7	484					T	22382965	C	T	22382965	3	4	352	1	0	0	0	0	1	0	0	0	11078	652	23	2	495	2	OR4N4	15	22382965	Missense_Mutation	SNP	C	TCGA-M7-A720-01A-12D-A32B-08		22382965	80148427	16	17710											
CKMT1B	1159	broad.mit.edu	37	chr15	43891436	43891436	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tggagagaggccaggatatcCgcatccccacacctgtcatc	10	7	10	14	1	1	1	1	0	0	1	4	4	3	3	5	3	0	1	5	3	1	1	rs567549901		TCGA-M7-A720-01A-12D-A32B-08	TCGA-M7-A720-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cba5884-4340-40e8-a83c-7377f5436f29	cd75bca3-514a-46d7-9c45-64d7da925e78	g.chr15:43891436C>T	ENST00000441322.1	+	9	1579	c.1219C>T	c.(1219-1221)Cgc>Tgc	p.R407C	CKMT1B_ENST00000300283.6_Missense_Mutation_p.R407C			P12532	KCRU_HUMAN	creatine kinase, mitochondrial 1B	407					cellular nitrogen compound metabolic process (GO:0034641)|creatine metabolic process (GO:0006600)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|creatine kinase activity (GO:0004111)			large_intestine(1)|lung(3)|skin(1)	5		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.56e-07)	Creatine(DB00148)	CCAGGATATCCGCATCCCCAC	0.493													C|||	1	0.000199681	0	0	5008	,	,		18683	0.001		0	False		,,,				2504	0					ENST00000300283.6																			0				large_intestine(1)|lung(3)|skin(1)	5						c.(1219-1221)Cgc>Tgc		creatine kinase, mitochondrial 1B	Creatine(DB00148)						156	137	143					15																	43891436		2200	4294	6494	SO:0001583	missense	1159				creatine metabolic process	mitochondrial inner membrane	ATP binding|creatine kinase activity	g.chr15:43891436C>T	AK094322, J04469	CCDS10097.1	15q15	2005-04-15		2005-04-15	ENSG00000237289	ENSG00000237289	2.7.3.2		1995	protein-coding gene	gene with protein product		123290	"creatine kinase, mitochondrial 1 (ubiquitous)"	CKMT, CKMT1			Standard	XM_005254150		Approved	UMTCK	uc001zsc.3	P12532	OTTHUMG00000059900	ENST00000441322.1:c.1219C>T	15.37:g.43891436C>T	ENSP00000413255:p.Arg407Cys					CKMT1B_ENST00000441322.1_Missense_Mutation_p.R407C	p.R407C	NM_020990.3	NP_066270.1	P12532	KCRU_HUMAN		GBM - Glioblastoma multiforme(94;3.56e-07)	10	1611	+		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)	407					B4DIT8|B7ZA09|Q0VAM3|Q32NF6|Q53FC4	Missense_Mutation	SNP	ENST00000441322.1	37	c.1219C>T	CCDS10097.1	.	.	.	.	.	.	.	.	.	.	C	15.79	2.936749	0.52972	.	.	ENSG00000237289	ENST00000300283;ENST00000441322	T;T	0.22945	1.93;1.93	4.03	4.03	0.46877	.	0.055711	0.64402	D	0.000001	T	0.36853	0.0982	L	0.44542	1.39	0.80722	D	1	D;P	0.55800	0.973;0.924	P;B	0.55667	0.781;0.376	T	0.27571	-1.0070	10	0.87932	D	0	0.0219	15.6816	0.77373	0.0:1.0:0.0:0.0	.	438;407	P12532-2;P12532	.;KCRU_HUMAN	C	407	ENSP00000300283:R407C;ENSP00000413255:R407C	ENSP00000300283:R407C	R	+	1	0	CKMT1B	41678728	1.000000	0.71417	1.000000	0.80357	0.766000	0.43426	3.102000	0.50291	2.247000	0.74100	0.313000	0.20887	CGC		0.493	CKMT1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133147.2	NM_020990		10	190	0	0	0	1	0	10	190					T	43891436	C	T	43891436	3	4	352	1	0	0	0	0	1	0	0	0	3450	652	23	2	1253	2	CKMT1B	15	43891436	Missense_Mutation	SNP	C	TCGA-M7-A720-01A-12D-A32B-08	21508471	43891436	58639956	17	17711											
TFAP4	7023	broad.mit.edu	37	chr16	4310225	4310225	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatcaccgtggggtggtgggTgggggccggagggggcagaa	6	5	24	6	2	1	1	1	0	0	1	1	3	1	2	2	9	0	1	2	9	1	0			TCGA-M7-A720-01A-12D-A32B-08	TCGA-M7-A720-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cba5884-4340-40e8-a83c-7377f5436f29	cd75bca3-514a-46d7-9c45-64d7da925e78	g.chr16:4310225T>G	ENST00000204517.6	-	6	1016	c.688A>C	c.(688-690)Acc>Ccc	p.T230P		NM_003223.2	NP_003214.1	Q01664	TFAP4_HUMAN	transcription factor AP-4 (activating enhancer binding protein 4)	230	Pro-rich.				cellular response to dexamethasone stimulus (GO:0071549)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|negative regulation by host of viral transcription (GO:0043922)|negative regulation of cell cycle arrest (GO:0071157)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of DNA binding (GO:0043392)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:2001269)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	DNA binding (GO:0003677)|E-box binding (GO:0070888)|histone deacetylase binding (GO:0042826)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|endometrium(2)|lung(8)|ovary(1)|prostate(1)|skin(1)	14						GGGTGGTGGGTGGGGGCCGGA	0.622																																						ENST00000204517.6																			0				NS(1)|endometrium(2)|lung(8)|ovary(1)|prostate(1)|skin(1)	14						c.(688-690)Acc>Ccc		transcription factor AP-4 (activating enhancer binding protein 4)																																				SO:0001583	missense	7023				DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|negative regulation by host of viral transcription|negative regulation of cell cycle arrest|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|negative regulation of DNA binding|negative regulation of transcription, DNA-dependent|positive regulation by host of viral transcription|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein complex assembly|regulation of S phase of mitotic cell cycle	transcriptional repressor complex	E-box binding|histone deacetylase binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity	g.chr16:4310225T>G	X57435	CCDS10510.1	16p13	2013-05-21	2001-11-28		ENSG00000090447	ENSG00000090447		"Basic helix-loop-helix proteins"	11745	protein-coding gene	gene with protein product		600743	"transcription factor AP-4 (activating enhancer-binding protein 4)"			2123466	Standard	NM_003223		Approved	AP-4, bHLHc41	uc010uxg.2	Q01664	OTTHUMG00000129435	ENST00000204517.6:c.688A>C	16.37:g.4310225T>G	ENSP00000204517:p.Thr230Pro						p.T230P	NM_003223.2	NP_003214.1	Q01664	TFAP4_HUMAN			6	1016	-			230			Pro-rich.		O60409	Missense_Mutation	SNP	ENST00000204517.6	37	c.688A>C	CCDS10510.1	.	.	.	.	.	.	.	.	.	.	T	20.2	3.947766	0.73787	.	.	ENSG00000090447	ENST00000204517	D	0.98978	-5.29	4.79	4.79	0.61399	.	0.000000	0.85682	D	0.000000	D	0.98692	0.9561	L	0.48362	1.52	0.54753	D	0.999989	D	0.71674	0.998	D	0.73708	0.981	D	0.98750	1.0720	10	0.34782	T	0.22	.	14.1705	0.65506	0.0:0.0:0.0:1.0	.	230	Q01664	TFAP4_HUMAN	P	230	ENSP00000204517:T230P	ENSP00000204517:T230P	T	-	1	0	TFAP4	4250226	1.000000	0.71417	1.000000	0.80357	0.927000	0.56198	7.369000	0.79578	1.996000	0.58369	0.460000	0.39030	ACC		0.622	TFAP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251595.2	NM_003223		6	33	0	0	0	1	0	6	33					G	4310225	T	G	4310225	3	3	352	1	0	0	0	0	1	0	0	0	15789	1696	59	5	336	5	TFAP4	16	4310225	Missense_Mutation	SNP	T	TCGA-M7-A720-01A-12D-A32B-08		4310225	86044528	18	17712											
ZNF48	197407	broad.mit.edu	37	chr16	30409411	30409411	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccatatatctgcactgattgCggcaagaggtttgtgctcag	9	12	11	9	1	2	2	1	1	1	1	2	2	2	2	1	2	3	4	1	2	3	4	rs577857291	byFrequency	TCGA-M7-A720-01A-12D-A32B-08	TCGA-M7-A720-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cba5884-4340-40e8-a83c-7377f5436f29	cd75bca3-514a-46d7-9c45-64d7da925e78	g.chr16:30409411C>T	ENST00000320159.2	+	2	1216	c.840C>T	c.(838-840)tgC>tgT	p.C280C	SEPT1_ENST00000570039.1_5'Flank	NM_001214906.1|NM_001214907.1|NM_001214909.1|NM_152652.2	NP_001201835.1|NP_001201836.1|NP_001201838.1|NP_689865.2	Q96MX3	ZNF48_HUMAN	zinc finger protein 48	280					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(11)|ovary(2)|pancreas(1)|skin(1)	21						GCACTGATTGCGGCAAGAGGT	0.622													C|||	2	0.000399361	0	0	5008	,	,		15452	0		0	False		,,,				2504	0.002					ENST00000320159.2																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(11)|ovary(2)|pancreas(1)|skin(1)	21						c.(838-840)tgC>tgT		zinc finger protein 48							90	99	96					16																	30409411		2197	4300	6497	SO:0001819	synonymous_variant	197407				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:30409411C>T	M88358, AK056313	CCDS10679.1, CCDS73868.1	16p11.2	2013-01-08			ENSG00000180035	ENSG00000180035		"Zinc fingers, C2H2-type"	13114	protein-coding gene	gene with protein product			"zinc finger protein 553"	ZNF553		1505991	Standard	NM_152652		Approved	DKFZp762K013, FLJ31751, MGC43952	uc021tgi.1	Q96MX3	OTTHUMG00000048195	ENST00000320159.2:c.840C>T	16.37:g.30409411C>T							p.C280C	NM_001214906.1|NM_001214907.1|NM_001214909.1|NM_152652.2	NP_001201835.1|NP_001201836.1|NP_001201838.1|NP_689865.2	Q96MX3	ZNF48_HUMAN			2	1216	+			280					Q15920|Q4G0R3|Q69YP3|Q96IL9	Silent	SNP	ENST00000320159.2	37	c.840C>T	CCDS10679.1																																																																																				0.622	ZNF48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255549.2	NM_152652		3	55	0	0	0	1	0	3	55					T	30409411	C	T	30409411	2	4	352	1	0	0	0	0	0	0	0	1	17931	776	27	1		1	ZNF48	16	30409411	Silent	SNP	C	TCGA-M7-A720-01A-12D-A32B-08	26099186	30409411	59945342	19	17713											
ABCC11	85320	broad.mit.edu	37	chr16	48239340	48239340	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttaccgggccttgtcatatgCgcctcccatgaggatgttct	6	13	10	12	2	2	1	1	1	1	0	3	2	3	2	4	2	2	1	4	2	2	4			TCGA-M7-A720-01A-12D-A32B-08	TCGA-M7-A720-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cba5884-4340-40e8-a83c-7377f5436f29	cd75bca3-514a-46d7-9c45-64d7da925e78	g.chr16:48239340C>T	ENST00000394747.1	-	12	2138	c.1789G>A	c.(1789-1791)Gca>Aca	p.A597T	ABCC11_ENST00000356608.2_Missense_Mutation_p.A597T|ABCC11_ENST00000353782.5_Missense_Mutation_p.A597T|ABCC11_ENST00000537808.1_Missense_Mutation_p.A597T|ABCC11_ENST00000394748.1_Missense_Mutation_p.A597T	NM_033151.3	NP_149163.2	Q96J66	ABCCB_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 11	597	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				organic anion transport (GO:0015711)|purine nucleotide transport (GO:0015865)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)|purine nucleotide transmembrane transporter activity (GO:0015216)			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2)	83		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)			Conjugated Estrogens(DB00286)|Folic Acid(DB00158)|Indomethacin(DB00328)|Methotrexate(DB00563)|Probenecid(DB01032)	TTGTCATATGCGCCTCCCATG	0.622																																						ENST00000394747.1																			0				breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2)	83						c.(1789-1791)Gca>Aca		ATP-binding cassette, sub-family C (CFTR/MRP), member 11							156	140	146					16																	48239340		2201	4300	6501	SO:0001583	missense	85320					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr16:48239340C>T	AF367202	CCDS10732.1, CCDS10733.1	16q12	2012-03-14			ENSG00000121270	ENSG00000121270		"ATP binding cassette transporters / subfamily C"	14639	protein-coding gene	gene with protein product		607040				11483364, 11435397	Standard	NM_033151		Approved	MRP8	uc002efg.1	Q96J66	OTTHUMG00000133146	ENST00000394747.1:c.1789G>A	16.37:g.48239340C>T	ENSP00000378230:p.Ala597Thr					ABCC11_ENST00000537808.1_Missense_Mutation_p.A597T|ABCC11_ENST00000394748.1_Missense_Mutation_p.A597T|ABCC11_ENST00000353782.5_Missense_Mutation_p.A597T|ABCC11_ENST00000356608.2_Missense_Mutation_p.A597T	p.A597T	NM_033151.3	NP_149163.2	Q96J66	ABCCB_HUMAN			12	2138	-		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)	597			ABC transporter 1.		Q8TDJ0|Q96JA6|Q9BX80	Missense_Mutation	SNP	ENST00000394747.1	37	c.1789G>A	CCDS10732.1	.	.	.	.	.	.	.	.	.	.	C	9.292	1.050901	0.19827	.	.	ENSG00000121270	ENST00000353782;ENST00000356608;ENST00000394748;ENST00000394747;ENST00000537808	D;D;D;D;D	0.90324	-2.65;-2.65;-2.65;-2.65;-2.65	5.18	0.326	0.15908	ABC transporter, transmembrane domain, type 1 (1);ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.544429	0.19333	N	0.116859	T	0.80964	0.4725	L	0.33668	1.02	0.09310	N	1	B;B	0.30526	0.283;0.02	B;B	0.17979	0.02;0.017	T	0.69343	-0.5170	10	0.44086	T	0.13	-1.8101	7.1	0.25332	0.0:0.2478:0.2942:0.458	.	597;597	Q96J66-2;Q96J66	.;ABCCB_HUMAN	T	597	ENSP00000311326:A597T;ENSP00000349017:A597T;ENSP00000378231:A597T;ENSP00000378230:A597T;ENSP00000438530:A597T	ENSP00000311326:A597T	A	-	1	0	ABCC11	46796841	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	0.265000	0.18515	0.166000	0.19597	-1.105000	0.02106	GCA		0.622	ABCC11-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000429984.1	NM_032583		4	209	0	0	0	1	0	4	209					T	48239340	C	T	48239340	3	4	352	1	0	0	0	0	1	0	0	0	51	768	27	1	2431	1	ABCC11	16	48239340	Missense_Mutation	SNP	C	TCGA-M7-A720-01A-12D-A32B-08	17829929	48239340	42115413	20	17714											
PLD2	5338	broad.mit.edu	37	chr17	4712837	4712837	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctttatcccggacttgggccGcaaaggactgtgagtgtctg	7	11	13	10	2	1	1	0	1	1	0	2	3	2	3	2	3	0	1	2	3	2	3	rs368249657		TCGA-M7-A720-01A-12D-A32B-08	TCGA-M7-A720-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cba5884-4340-40e8-a83c-7377f5436f29	cd75bca3-514a-46d7-9c45-64d7da925e78	g.chr17:4712837G>A	ENST00000263088.6	+	7	736	c.605G>A	c.(604-606)cGc>cAc	p.R202H	PLD2_ENST00000572940.1_Missense_Mutation_p.R202H|RP11-81A22.5_ENST00000571067.1_lincRNA	NM_001243108.1|NM_002663.4	NP_001230037.1|NP_002654.3	O14939	PLD2_HUMAN	phospholipase D2	202					cytoskeleton organization (GO:0007010)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|G-protein coupled receptor internalization (GO:0002031)|glycerophospholipid biosynthetic process (GO:0046474)|innate immune response (GO:0045087)|lipid catabolic process (GO:0016042)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylglycerol biosynthetic process (GO:0006655)|phospholipid metabolic process (GO:0006644)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	brush border membrane (GO:0031526)|endoplasmic reticulum membrane (GO:0005789)|plasma membrane (GO:0005886)	N-acylphosphatidylethanolamine-specific phospholipase D activity (GO:0070290)|phosphatidylinositol binding (GO:0035091)|phospholipase D activity (GO:0004630)			autonomic_ganglia(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)	31					Choline(DB00122)	GACTTGGGCCGCAAAGGACTG	0.567																																						ENST00000263088.6																			0				autonomic_ganglia(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)	31						c.(604-606)cGc>cAc		phospholipase D2	Choline(DB00122)						56	59	58					17																	4712837		2203	4300	6503	SO:0001583	missense	5338				cell communication|cytoskeleton organization|small GTPase mediated signal transduction		NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity	g.chr17:4712837G>A	AF035483	CCDS11057.1, CCDS58507.1	17p13.3	2008-04-14			ENSG00000129219	ENSG00000129219	3.1.4.4		9068	protein-coding gene	gene with protein product	"choline phosphatase 2"	602384				9858823, 9582313	Standard	NM_002663		Approved		uc002fzc.3	O14939	OTTHUMG00000090779	ENST00000263088.6:c.605G>A	17.37:g.4712837G>A	ENSP00000263088:p.Arg202His					PLD2_ENST00000572940.1_Missense_Mutation_p.R202H	p.R202H	NM_001243108.1|NM_002663.4	NP_001230037.1|NP_002654.3	O14939	PLD2_HUMAN			7	736	+			202					I3L2C9|O43540|O43579|O43580|Q6PGR0|Q96BY3	Missense_Mutation	SNP	ENST00000263088.6	37	c.605G>A	CCDS11057.1	.	.	.	.	.	.	.	.	.	.	G	12.45	1.940910	0.34283	.	.	ENSG00000129219	ENST00000263088	T	0.06449	3.3	5.1	0.825	0.18824	.	0.567307	0.19886	N	0.103853	T	0.02610	0.0079	N	0.04508	-0.205	0.19775	N	0.99996	B;B;B	0.21225	0.053;0.041;0.01	B;B;B	0.12156	0.001;0.007;0.002	T	0.48151	-0.9060	10	0.15499	T	0.54	-1.3847	9.5998	0.39596	0.0:0.495:0.426:0.079	.	59;202;202	B7Z905;O14939-2;O14939	.;.;PLD2_HUMAN	H	202	ENSP00000263088:R202H	ENSP00000263088:R202H	R	+	2	0	PLD2	4659801	0.761000	0.28439	0.852000	0.33557	0.645000	0.38454	1.825000	0.39081	0.056000	0.16144	-0.311000	0.09066	CGC		0.567	PLD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207561.3	NM_002663		4	113	0	0	0	1	0	4	113					A	4712837	G	A	4712837	3	1	352	1	0	0	0	0	1	0	0	0	12046	1087	38	1	627	1	PLD2	17	4712837	Missense_Mutation	SNP	G	TCGA-M7-A720-01A-12D-A32B-08		4712837	76482373	21	17715											
AURKB	9212	broad.mit.edu	37	chr17	8110638	8110638	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acacgtttccaaacttgcctTtgcccagaggacgcccaatc	10	9	7	15	2	0	1	0	0	0	1	2	2	1	2	4	1	3	1	4	1	2	3			TCGA-M7-A720-01A-12D-A32B-08	TCGA-M7-A720-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cba5884-4340-40e8-a83c-7377f5436f29	cd75bca3-514a-46d7-9c45-64d7da925e78	g.chr17:8110638T>G	ENST00000585124.1	-	5	347	c.254A>C	c.(253-255)aAa>aCa	p.K85T	AURKB_ENST00000316199.6_Missense_Mutation_p.K86T|AURKB_ENST00000578549.1_Missense_Mutation_p.K85T|AURKB_ENST00000534871.1_Missense_Mutation_p.K44T|AURKB_ENST00000535053.1_Missense_Mutation_p.K86T	NM_004217.3	NP_004208.2	Q96GD4	AURKB_HUMAN	aurora kinase B	85	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				abscission (GO:0009838)|aging (GO:0007568)|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|attachment of spindle microtubules to kinetochore (GO:0008608)|cell proliferation (GO:0008283)|cellular response to UV (GO:0034644)|cleavage furrow formation (GO:0036089)|cytokinesis checkpoint (GO:0031565)|histone H3-S28 phosphorylation (GO:0043988)|histone modification (GO:0016570)|mitotic cell cycle (GO:0000278)|negative regulation of B cell apoptotic process (GO:0002903)|negative regulation of cytokinesis (GO:0032466)|negative regulation of protein binding (GO:0032091)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cytokinesis (GO:0032467)|protein autophosphorylation (GO:0046777)|protein localization to kinetochore (GO:0034501)|protein phosphorylation (GO:0006468)|regulation of chromosome segregation (GO:0051983)|spindle checkpoint (GO:0031577)|spindle midzone assembly involved in mitosis (GO:0051256)|spindle stabilization (GO:0043146)	chromocenter (GO:0010369)|chromosome passenger complex (GO:0032133)|condensed chromosome, centromeric region (GO:0000779)|condensed nuclear chromosome, centromeric region (GO:0000780)|cytosol (GO:0005829)|intercellular bridge (GO:0045171)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle (GO:0005819)	ATP binding (GO:0005524)|histone serine kinase activity (GO:0035174)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)			breast(1)|central_nervous_system(1)|lung(2)	4						AAACTTGCCTTTGCCCAGAGG	0.502																																					NSCLC(134;1161 2470 43664 51568)	ENST00000316199.6																			0				breast(1)|central_nervous_system(1)|lung(2)	4						c.(256-258)aAa>aCa		aurora kinase B							76	68	71					17																	8110638		2203	4300	6503	SO:0001583	missense	9212				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|mitotic prometaphase|protein localization to kinetochore	chromosome passenger complex|condensed nuclear chromosome, centromeric region|cytosol|spindle	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr17:8110638T>G	AF004022	CCDS11134.1, CCDS58514.1, CCDS67162.1	17p13.1	2013-01-17	2003-07-21	2003-07-23	ENSG00000178999	ENSG00000178999		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	11390	protein-coding gene	gene with protein product	"aurora-B", "aurora-1", "protein phosphatase 1, regulatory subunit 48"	604970	"serine/threonine kinase 12"	STK12		9858806	Standard	NM_001256834		Approved	Aik2, IPL1, AurB, AIM-1, ARK2, STK5, PPP1R48	uc002gkm.4	Q96GD4	OTTHUMG00000108189	ENST00000585124.1:c.254A>C	17.37:g.8110638T>G	ENSP00000463999:p.Lys85Thr					AURKB_ENST00000585124.1_Missense_Mutation_p.K85T|AURKB_ENST00000534871.1_Missense_Mutation_p.K44T|AURKB_ENST00000578549.1_Missense_Mutation_p.K85T|AURKB_ENST00000535053.1_Missense_Mutation_p.K86T	p.K86T			Q96GD4	AURKB_HUMAN			5	334	-			85			Protein kinase.		B4DNM4|C7G533|C7G534|C7G535|D3DTR4|J9JID1|O14630|O60446|O95083|Q96DV5|Q9UQ46	Missense_Mutation	SNP	ENST00000585124.1	37	c.257A>C	CCDS11134.1	.	.	.	.	.	.	.	.	.	.	T	14.13	2.442284	0.43326	.	.	ENSG00000178999	ENST00000316199;ENST00000534871;ENST00000535053	T;T	0.66460	-0.21;-0.21	5.16	4.07	0.47477	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.56978	0.2022	L	0.45051	1.395	0.58432	D	0.999993	P;P	0.37955	0.612;0.612	B;B	0.37601	0.254;0.254	T	0.58025	-0.7709	10	0.59425	D	0.04	-15.2863	9.2134	0.37333	0.0:0.0859:0.0:0.9141	.	85;85	C7G533;Q96GD4	.;AURKB_HUMAN	T	85;44;86	ENSP00000443869:K44T;ENSP00000445866:K86T	ENSP00000313950:K85T	K	-	2	0	AURKB	8051363	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.698000	0.84413	0.982000	0.38575	0.533000	0.62120	AAA		0.502	AURKB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000226995.2	NM_004217		5	50	0	0	0	1	0	5	50					G	8110638	T	G	8110638	3	3	352	1	0	0	0	0	1	0	0	0	1223	1841	64	5	800	5	AURKB	17	8110638	Missense_Mutation	SNP	T	TCGA-M7-A720-01A-12D-A32B-08	3397801	8110638	73084572	22	17716											
MEOX1	4222	broad.mit.edu	37	chr17	41720986	41720986	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	aggccgtcctctccttgcggGctttgctgctgccctccggc	1	11	12	17	3	1	0	0	0	1	0	4	0	3	0	5	3	4	3	5	3	0	2			TCGA-M7-A720-01A-12D-A32B-08	TCGA-M7-A720-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cba5884-4340-40e8-a83c-7377f5436f29	cd75bca3-514a-46d7-9c45-64d7da925e78	g.chr17:41720986G>C	ENST00000318579.4	-	2	931	c.512C>G	c.(511-513)gCc>gGc	p.A171G	MEOX1_ENST00000549132.1_Intron|MEOX1_ENST00000393661.2_Missense_Mutation_p.A56G|MEOX1_ENST00000329168.3_Intron	NM_001040002.1|NM_004527.3	NP_001035091.1|NP_004518.1	P50221	MEOX1_HUMAN	mesenchyme homeobox 1	171					multicellular organismal development (GO:0007275)|somite specification (GO:0001757)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	8		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.0753)		CTCCTTGCGGGCTTTGCTGCT	0.577																																						ENST00000318579.4																			0				NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	8						c.(511-513)gCc>gGc		mesenchyme homeobox 1							62	51	55					17																	41720986		2203	4300	6503	SO:0001583	missense	4222					nucleus	sequence-specific DNA binding	g.chr17:41720986G>C		CCDS11466.1, CCDS11467.1, CCDS42343.1	17q21.31	2014-07-15	2005-12-22					"Homeoboxes / ANTP class : HOXL subclass"	7013	protein-coding gene	gene with protein product		600147	"mesenchyme homeo box 1"			7987315	Standard	NM_013999		Approved	MOX1	uc002idz.3	P50221	OTTHUMG00000170513	ENST00000318579.4:c.512C>G	17.37:g.41720986G>C	ENSP00000321684:p.Ala171Gly					MEOX1_ENST00000329168.3_Intron|MEOX1_ENST00000549132.1_Intron|MEOX1_ENST00000393661.2_Missense_Mutation_p.A56G	p.A171G	NM_001040002.1|NM_004527.3	NP_001035091.1|NP_004518.1	P50221	MEOX1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.0753)	2	931	-		Breast(137;0.00908)	171					A8K524|A8MWF9|Q15069	Missense_Mutation	SNP	ENST00000318579.4	37	c.512C>G	CCDS11466.1	.	.	.	.	.	.	.	.	.	.	G	16.69	3.194058	0.58017	.	.	ENSG00000005102	ENST00000318579;ENST00000393661	D;D	0.95588	-3.75;-3.64	3.7	3.7	0.42460	Homeodomain-related (1);Homeobox (2);Homeodomain-like (1);	0.129722	0.51477	D	0.000093	D	0.91327	0.7265	L	0.29908	0.895	0.80722	D	1	B	0.06786	0.001	B	0.08055	0.003	D	0.88215	0.2893	10	0.34782	T	0.22	-17.2644	15.5985	0.76606	0.0:0.0:1.0:0.0	.	171	P50221	MEOX1_HUMAN	G	171;56	ENSP00000321684:A171G;ENSP00000377271:A56G	ENSP00000321684:A171G	A	-	2	0	MEOX1	39076512	1.000000	0.71417	1.000000	0.80357	0.806000	0.45545	7.218000	0.77991	1.905000	0.55150	0.491000	0.48974	GCC		0.577	MEOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409452.1			4	24	0	0	0	1	0	4	24					C	41720986	G	C	41720986	3	2	352	1	0	0	0	0	1	0	0	0	9473	1203	42	5	260	5	MEOX1	17	41720986	Missense_Mutation	SNP	G	TCGA-M7-A720-01A-12D-A32B-08	33610348	41720986	39474224	23	17717											
TRIP10	9322	broad.mit.edu	37	chr19	6743220	6743221	+	Frame_Shift_Ins	INS	-	-	G																															gtagcacttccaagaagggcINSggcgggcccagcagcagctg																								rs147776897|rs375676701		TCGA-M7-A720-01A-12D-A32B-08	TCGA-M7-A720-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cba5884-4340-40e8-a83c-7377f5436f29	cd75bca3-514a-46d7-9c45-64d7da925e78	g.chr19:6743220_6743221insG	ENST00000313244.9	+	5	396_397	c.361_362insG	c.(361-363)cggfs	p.R121fs	TRIP10_ENST00000596758.1_Frame_Shift_Ins_p.R121fs|TRIP10_ENST00000313285.8_Frame_Shift_Ins_p.R121fs|TRIP10_ENST00000600428.1_Frame_Shift_Ins_p.R13fs			Q15642	CIP4_HUMAN	thyroid hormone receptor interactor 10	121	F-BAR domain.				actin cytoskeleton organization (GO:0030036)|cell communication (GO:0007154)|endocytosis (GO:0006897)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|lysosome (GO:0005764)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)|lipid binding (GO:0008289)	p.R121L(1)		NS(1)|breast(1)|endometrium(1)|large_intestine(1)|liver(2)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	16						CCAAGAAGGGCGGCGGGCCCAG	0.559																																						ENST00000600428.1																			1	Substitution - Missense(1)	p.R121L(1)	NS(1)	NS(1)|breast(1)|endometrium(1)|large_intestine(1)|liver(2)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	16						c.(37-39)gcgfs		thyroid hormone receptor interactor 10																																				SO:0001589	frameshift_variant	9322				actin cytoskeleton organization|cell communication|endocytosis|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell cortex|cell projection|cytoskeleton|cytosol|Golgi apparatus|lysosome|perinuclear region of cytoplasm|phagocytic cup	GTPase activator activity|identical protein binding|lipid binding	g.chr19:6743220_6743221insG	AB072596	CCDS12172.1, CCDS74271.1, CCDS74272.1	19p13.3	2008-02-05			ENSG00000125733	ENSG00000125733			12304	protein-coding gene	gene with protein product	"Cdc42-interacting protein"	604504	"salt tolerator"	STOT		7776974, 9210375, 11294612	Standard	XM_005259683		Approved	STP, HSTP, CIP4	uc002mfr.3	Q15642	OTTHUMG00000150255	ENST00000313244.9:c.363dupG	19.37:g.6743222_6743222dupG	ENSP00000320117:p.Arg121fs					TRIP10_ENST00000313244.9_Frame_Shift_Ins_p.A121fs|TRIP10_ENST00000596758.1_Frame_Shift_Ins_p.A121fs|TRIP10_ENST00000313285.8_Frame_Shift_Ins_p.A121fs	p.A13fs			Q15642	CIP4_HUMAN			5	683_684	+			121			FCH.|Induction of membrane tubulation.|Required for podosome formation and interaction with AKAP9 and microtubules.|Required for translocation to the plasma membrane in response to insulin (By similarity).		B2R8A6|B7WP22|D6W645|O15184|Q53G22|Q5TZN1|Q6FI24|Q8NFL1|Q8TCY1|Q8TDX3|Q96RJ1	Frame_Shift_Ins	INS	ENST00000313244.9	37	c.37_38insG																																																																																					0.559	TRIP10-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000317129.2			7	82						7	82	---	---	---	---	G	6743221	-	G	6743220	7	5	352	1	0	1	1	0	0	0	0	0	16551	759	27	0	379	0	TRIP10	19	6743220	Frame_Shift_Ins	INS	-	TCGA-M7-A720-01A-12D-A32B-08		6743220	52385763	24	17718											
GYS1	2997	broad.mit.edu	37	chr19	49485993	49485993	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtacccataaaaatggccccGcacaaactcctggattcgag	13	7	8	13	2	0	0	0	0	0	0	2	2	1	1	4	2	2	2	4	2	5	3			TCGA-M7-A720-01A-12D-A32B-08	TCGA-M7-A720-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cba5884-4340-40e8-a83c-7377f5436f29	cd75bca3-514a-46d7-9c45-64d7da925e78	g.chr19:49485993G>A	ENST00000323798.3	-	6	1121	c.925C>T	c.(925-927)Cgg>Tgg	p.R309W	GYS1_ENST00000544287.1_Intron|GYS1_ENST00000263276.6_Missense_Mutation_p.R245W|GYS1_ENST00000541188.1_Missense_Mutation_p.R229W|GYS1_ENST00000540532.1_Intron	NM_002103.4	NP_002094.2	P13807	GYS1_HUMAN	glycogen synthase 1 (muscle)	309					carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|heart development (GO:0007507)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|inclusion body (GO:0016234)|membrane (GO:0016020)	glucose binding (GO:0005536)|glycogen (starch) synthase activity (GO:0004373)|glycogen synthase activity, transferring glucose-1-phosphate (GO:0061547)|protein kinase binding (GO:0019901)			breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;8.64e-05)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000164)|all cancers(93;0.000226)|GBM - Glioblastoma multiforme(486;0.00561)|Epithelial(262;0.0286)		AAATGGCCCCGCACAAACTCC	0.542																																						ENST00000323798.3																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						c.(925-927)Cgg>Tgg		glycogen synthase 1 (muscle)							99	105	103					19																	49485993		2203	4300	6503	SO:0001583	missense	2997				glucose metabolic process|glycogen biosynthetic process	cytosol	glycogen (starch) synthase activity|protein binding	g.chr19:49485993G>A		CCDS12747.1, CCDS54292.1	19q13.3	2013-02-22			ENSG00000104812	ENSG00000104812	2.4.1.11	"Glycosyltransferase group 1 domain containing"	4706	protein-coding gene	gene with protein product		138570		GYS			Standard	NM_002103		Approved	GSY	uc002plp.3	P13807	OTTHUMG00000150723	ENST00000323798.3:c.925C>T	19.37:g.49485993G>A	ENSP00000317904:p.Arg309Trp					GYS1_ENST00000540532.1_Intron|GYS1_ENST00000544287.1_Intron|GYS1_ENST00000541188.1_Missense_Mutation_p.R229W|GYS1_ENST00000263276.6_Missense_Mutation_p.R245W	p.R309W	NM_002103.4	NP_002094.2	P13807	GYS1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000164)|all cancers(93;0.000226)|GBM - Glioblastoma multiforme(486;0.00561)|Epithelial(262;0.0286)	6	1121	-		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;8.64e-05)|all_neural(266;0.0506)|Ovarian(192;0.113)	309					Q9BTT9	Missense_Mutation	SNP	ENST00000323798.3	37	c.925C>T	CCDS12747.1	.	.	.	.	.	.	.	.	.	.	G	18.93	3.728447	0.69074	.	.	ENSG00000104812	ENST00000323798;ENST00000263276;ENST00000541188	T;T;T	0.73363	-0.74;-0.74;-0.74	4.98	3.88	0.44766	.	0.000000	0.85682	D	0.000000	D	0.87346	0.6154	M	0.91920	3.255	0.80722	D	1	D;D;D	0.89917	1.0;0.999;0.999	D;D;D	0.77557	0.99;0.95;0.967	D	0.89154	0.3525	10	0.87932	D	0	-25.235	11.3306	0.49473	0.0:0.0:0.7259:0.2741	.	229;245;309	B7Z806;Q9BTT9;P13807	.;.;GYS1_HUMAN	W	309;245;229	ENSP00000317904:R309W;ENSP00000263276:R245W;ENSP00000437922:R229W	ENSP00000263276:R245W	R	-	1	2	GYS1	54177805	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.141000	0.58038	2.491000	0.84063	0.561000	0.74099	CGG		0.542	GYS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319791.1	NM_002103		4	188	0	0	0	1	0	4	188					A	49485993	G	A	49485993	3	1	352	1	0	0	0	0	1	0	0	0	6912	1086	38	1	1332	1	GYS1	19	49485993	Missense_Mutation	SNP	G	TCGA-M7-A720-01A-12D-A32B-08	42742773	49485993	9642990	25	17719											
APOL6	80830	broad.mit.edu	37	chr22	36055369	36055369	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctatgacttggccactctctCaaaggaatggaagcacctga	12	9	9	11	0	2	2	1	2	1	0	3	4	2	4	2	3	1	1	2	3	4	2			TCGA-M7-A720-01A-12D-A32B-08	TCGA-M7-A720-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cba5884-4340-40e8-a83c-7377f5436f29	cd75bca3-514a-46d7-9c45-64d7da925e78	g.chr22:36055369C>T	ENST00000409652.4	+	3	1034	c.758C>T	c.(757-759)tCa>tTa	p.S253L		NM_030641.3	NP_085144.1	Q9BWW8	APOL6_HUMAN	apolipoprotein L, 6	253					lipid transport (GO:0006869)|lipoprotein metabolic process (GO:0042157)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)	lipid binding (GO:0008289)			haematopoietic_and_lymphoid_tissue(1)|lung(4)	5						GCCACTCTCTCAAAGGAATGG	0.537																																						ENST00000409652.3																			0				haematopoietic_and_lymphoid_tissue(1)|lung(4)	5						c.(757-759)tCa>tTa		apolipoprotein L, 6							78	73	75					22																	36055369		2203	4300	6503	SO:0001583	missense	80830				lipoprotein metabolic process	cytoplasm|extracellular region	lipid binding|lipid transporter activity	g.chr22:36055369C>T	AY014879	CCDS13919.1	22q12.3	2013-01-24			ENSG00000221963	ENSG00000221963		"Apolipoproteins"	14870	protein-coding gene	gene with protein product		607256				11374903, 15671246	Standard	NM_030641		Approved	APOL-VI, APOLVI	uc003aoe.3	Q9BWW8	OTTHUMG00000150615	ENST00000409652.4:c.758C>T	22.37:g.36055369C>T	ENSP00000386280:p.Ser253Leu						p.S253L	NM_030641.3	NP_085144.1	Q9BWW8	APOL6_HUMAN			3	1034	+			253					Q5R3S1|Q658J1|Q8IXX6|Q9UGG1	Missense_Mutation	SNP	ENST00000409652.4	37	c.758C>T	CCDS13919.1	.	.	.	.	.	.	.	.	.	.	C	0.560	-0.845529	0.02671	.	.	ENSG00000221963	ENST00000409652	T	0.03004	4.08	4.38	-2.51	0.06365	.	1.563940	0.04032	N	0.301708	T	0.03739	0.0106	L	0.48218	1.51	0.09310	N	1	B	0.17852	0.024	B	0.21708	0.036	T	0.45175	-0.9279	10	0.25106	T	0.35	-12.2402	0.9547	0.01383	0.1431:0.2382:0.29:0.3288	.	253	Q9BWW8	APOL6_HUMAN	L	253	ENSP00000386280:S253L	ENSP00000386280:S253L	S	+	2	0	APOL6	34385315	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.019000	0.13444	-0.559000	0.06110	0.655000	0.94253	TCA		0.537	APOL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319081.2	NM_030641		6	88	0	0	0	1	0	6	88					T	36055369	C	T	36055369	3	4	352	1	0	0	0	0	1	0	0	0	810	838	29	3	764	3	APOL6	22	36055369	Missense_Mutation	SNP	C	TCGA-M7-A720-01A-12D-A32B-08		36055369	15249197	26	17720											
GAGE2A	729408	broad.mit.edu	37	chrX	49208295	49208296	+	In_Frame_Ins	INS	-	-	TAT																															gttggcgaggaagatcgaccINStatcggcctagaccaagacg																								rs372553636		TCGA-M7-A720-01A-12D-A32B-08	TCGA-M7-A720-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cba5884-4340-40e8-a83c-7377f5436f29	cd75bca3-514a-46d7-9c45-64d7da925e78	g.chrX:49208295_49208296insTAT	ENST00000404720.2	+	2	96_97	c.24_25insTAT	c.(25-27)tat>TATtat	p.9_9Y>YY		NM_001098407.1|NM_012196.1	NP_001091877.1|NP_036328.1	Q9UEU5	GGE2D_HUMAN	G antigen 2D	9					cellular defense response (GO:0006968)												GAAGATCGACCTATCGGCCTAG	0.465														477	0.126358	0.031	0.098	3775	,	,		26951	0.0972		0.1441	False		,,,				2504	0.1278					ENST00000404720.2																			0											c.(22-27)acatcg>acTATatcg		G antigen 2D				10,505,1500		1,1,3,4,46,330,82,490,187						-1.1	0			8	27,1244,2482		1,3,16,6,128,539,446,675,577	no	codingComplex	GAGE2D	NM_001098407.1		2,4,19,10,174,869,528,1165,764	A1A1,A1A2,A1R,A1,A2A2,A2R,A2,RR,R		33.8662,25.5583,30.9639				37,1749,3982				SO:0001652	inframe_insertion	729408							g.chrX:49208295_49208296insTAT			Xp11.23	2012-10-02			ENSG00000240257				31959	protein-coding gene	gene with protein product		300735					Standard	NM_001098407		Approved	GAGE8		Q9UEU5	OTTHUMG00000067393	ENST00000404720.2:c.25_27dupTAT	X.37:g.49208296_49208298dupTAT	ENSP00000386110:p.Tyr9dup						p.8_9TS>TIS	NM_001098407.1|NM_012196.1	NP_001091877.1|NP_036328.1					2	96_97	+								A6NG46|A6NNR8|B7ZL76|Q4V325	In_Frame_Ins	INS	ENST00000404720.2	37	c.24_25insTAT	CCDS43941.1																																																																																				0.465	GAGE2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000144212.1	NM_001098407		12	19						12	19	---	---	---	---	TAT	49208296	-	TAT	49208295	7	5	352	1	0	1	1	0	0	0	0	0	6190	668	24	0	236	0	GAGE2A	23	49208295	In_Frame_Ins	INS	-	TCGA-M7-A720-01A-12D-A32B-08		49208295	106062265	27	17721											
GRIK3	2899	broad.mit.edu	37	chr1	37285454	37285454	+	Splice_Site	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtaccactcataagggctgaAcctgccacaggaggagaggg	12	5	14	10	0	1	2	1	1	0	1	1	4	1	3	3	4	3	2	3	4	3	2	rs199790296		TCGA-M7-A721-01A-12D-A32B-08	TCGA-M7-A721-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	292347c6-bf93-4cea-a220-25a1054e259c	aee1ef24-f3b6-446c-8ea1-d1d713c501db	g.chr1:37285454A>C	ENST00000373091.3	-	12	1772	c.1756T>G	c.(1756-1758)Ttc>Gtc	p.F586V	GRIK3_ENST00000373093.4_Splice_Site_p.F586V	NM_000831.3	NP_000822.2	Q13003	GRIK3_HUMAN	glutamate receptor, ionotropic, kainate 3	586					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	axon (GO:0030424)|cell junction (GO:0030054)|dendrite (GO:0030425)|dendrite cytoplasm (GO:0032839)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	adenylate cyclase inhibiting G-protein coupled glutamate receptor activity (GO:0001640)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|ionotropic glutamate receptor activity (GO:0004970)|kainate selective glutamate receptor activity (GO:0015277)			breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	89		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)				TAAGGGCTGAACCTGCCACAG	0.577																																						ENST00000373091.3																			0				breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	89						c.e12-1		glutamate receptor, ionotropic, kainate 3	L-Glutamic Acid(DB00142)						53	41	45					1																	37285454		2201	4299	6500	SO:0001630	splice_region_variant	2899				negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission	cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button	adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|G-protein-coupled receptor binding|kainate selective glutamate receptor activity	g.chr1:37285454A>C	U16127	CCDS416.1	1p34.3	2012-08-29			ENSG00000163873	ENSG00000163873		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4581	protein-coding gene	gene with protein product		138243				8128318	Standard	NM_000831		Approved	GluK3, GLUR7	uc001caz.2	Q13003	OTTHUMG00000004189	ENST00000373091.3:c.1755-1T>G	1.37:g.37285454A>C						GRIK3_ENST00000373093.4_Splice_Site_p.F586_splice	p.F586_splice	NM_000831.3	NP_000822.2	Q13003	GRIK3_HUMAN			12	1772	-		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)	586					A9Z1Z8|B1AMS6|Q13004|Q16136	Splice_Site	SNP	ENST00000373091.3	37	c.1754_splice	CCDS416.1	.	.	.	.	.	.	.	.	.	.	A	22.0	4.233987	0.79688	.	.	ENSG00000163873	ENST00000373091;ENST00000373093	D;D	0.97256	-4.31;-4.31	5.2	5.2	0.72013	Ionotropic glutamate receptor (2);	0.000000	0.85682	D	0.000000	D	0.97711	0.9249	L	0.56340	1.77	0.80722	D	1	D;D	0.61080	0.989;0.989	D;D	0.72075	0.976;0.968	D	0.98740	1.0716	10	0.87932	D	0	.	15.0731	0.72056	1.0:0.0:0.0:0.0	.	586;586	A9Z1Z8;Q13003	.;GRIK3_HUMAN	V	586	ENSP00000362183:F586V;ENSP00000362185:F586V	ENSP00000362183:F586V	F	-	1	0	GRIK3	37058041	1.000000	0.71417	1.000000	0.80357	0.477000	0.33069	7.517000	0.81783	1.943000	0.56356	0.379000	0.24179	TTC		0.577	GRIK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012053.1	NM_000831	Missense_Mutation	3	1	0	0	0	1	0	3	1					C	37285454	A	C	37285454	5	2	353	1	0	0	0	0	0	0	1	0	6775	57	2	5	1023	5	GRIK3	1	37285454	Splice_Site	SNP	A	TCGA-M7-A721-01A-12D-A32B-08		37285454	211965167	1	17722											
LCE2D	353141	broad.mit.edu	37	chr1	152636831	152636831	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggccccgtctcttccaccggCgccggcaccagagccccgat	5	5	11	20	5	1	1	0	0	1	1	3	2	2	1	8	3	1	1	8	3	0	1			TCGA-M7-A721-01A-12D-A32B-08	TCGA-M7-A721-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	292347c6-bf93-4cea-a220-25a1054e259c	aee1ef24-f3b6-446c-8ea1-d1d713c501db	g.chr1:152636831C>T	ENST00000368784.1	+	2	305	c.250C>T	c.(250-252)Cgc>Tgc	p.R84C		NM_178430.2	NP_848517.1	Q5TA82	LCE2D_HUMAN	late cornified envelope 2D	84	Cys-rich.				keratinization (GO:0031424)					large_intestine(1)|lung(7)|prostate(2)	10	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTTCCACCGGCGCCGGCACCA	0.682																																						ENST00000368784.1																			0				large_intestine(1)|lung(7)|prostate(2)	10						c.(250-252)Cgc>Tgc		late cornified envelope 2D							39	53	48					1																	152636831		2192	4286	6478	SO:0001583	missense	353141				keratinization			g.chr1:152636831C>T	BI670513	CCDS1018.1	1q21.3	2008-02-05	2004-10-11	2004-10-15	ENSG00000187223	ENSG00000187223		"Late cornified envelopes"	16518	protein-coding gene	gene with protein product		612612	"small proline rich-like (epidermal differentiation complex) 1A"	SPRL1A		11698679	Standard	NM_178430		Approved	LEP12	uc001fag.4	Q5TA82	OTTHUMG00000014400	ENST00000368784.1:c.250C>T	1.37:g.152636831C>T	ENSP00000357773:p.Arg84Cys						p.R84C	NM_178430.2	NP_848517.1	Q5TA82	LCE2D_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	305	+	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		84			Cys-rich.		A1L4M8	Missense_Mutation	SNP	ENST00000368784.1	37	c.250C>T	CCDS1018.1	.	.	.	.	.	.	.	.	.	.	c	7.753	0.703781	0.15172	.	.	ENSG00000187223	ENST00000368784	T	0.03745	3.82	2.99	1.06	0.20224	.	.	.	.	.	T	0.00815	0.0027	N	0.16602	0.42	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.47873	-0.9083	9	0.72032	D	0.01	.	4.8646	0.13602	0.0:0.6899:0.0:0.3101	.	84	Q5TA82	LCE2D_HUMAN	C	84	ENSP00000357773:R84C	ENSP00000357773:R84C	R	+	1	0	LCE2D	150903455	0.000000	0.05858	0.000000	0.03702	0.344000	0.29017	-0.368000	0.07543	0.031000	0.15407	0.305000	0.20034	CGC		0.682	LCE2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040058.1	NM_178430		8	87	0	0	0	1	0	8	87					T	152636831	C	T	152636831	3	4	353	1	0	0	0	0	1	0	0	0	8668	768	27	1	252	1	LCE2D	1	152636831	Missense_Mutation	SNP	C	TCGA-M7-A721-01A-12D-A32B-08	115351377	152636831	96613790	2	17723											
NFASC	23114	broad.mit.edu	37	chr1	204985658	204985658	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgtcaatgctatctactcTctggcctaacggagcccacc	8	10	7	16	1	3	0	1	0	2	0	4	1	3	1	4	2	4	1	4	2	4	3			TCGA-M7-A721-01A-12D-A32B-08	TCGA-M7-A721-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	292347c6-bf93-4cea-a220-25a1054e259c	aee1ef24-f3b6-446c-8ea1-d1d713c501db	g.chr1:204985658T>C	ENST00000401399.1	+	29	3913	c.3714T>C	c.(3712-3714)tcT>tcC	p.S1238S	NFASC_ENST00000339876.6_Silent_p.S1238S|NFASC_ENST00000495396.1_3'UTR|NFASC_ENST00000360049.4_Silent_p.S1167S|NFASC_ENST00000513543.1_Silent_p.S1167S|NFASC_ENST00000367171.4_Silent_p.S1330S|NFASC_ENST00000367172.4_Silent_p.S1345S|NFASC_ENST00000367170.4_Silent_p.S1266S|NFASC_ENST00000338515.6_Silent_p.S1255S|NFASC_ENST00000404076.1_Silent_p.S1155S|NFASC_ENST00000539706.1_Silent_p.S1172S|NFASC_ENST00000367169.4_Silent_p.S1069S|NFASC_ENST00000404907.1_Silent_p.S1172S|NFASC_ENST00000338586.6_Silent_p.S1222S			O94856	NFASC_HUMAN	neurofascin	1345					axon guidance (GO:0007411)|clustering of voltage-gated sodium channels (GO:0045162)|heterotypic cell-cell adhesion (GO:0034113)|myelination (GO:0042552)|paranodal junction assembly (GO:0030913)|peripheral nervous system development (GO:0007422)|protein localization to juxtaparanode region of axon (GO:0071205)|protein localization to paranode region of axon (GO:0002175)|synapse organization (GO:0050808)|transmission of nerve impulse (GO:0019226)	axon initial segment (GO:0043194)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|node of Ranvier (GO:0033268)|paranodal junction (GO:0033010)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)				NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	81	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			CTATCTACTCTCTGGCCTAAC	0.567																																						ENST00000367172.4																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	81						c.(4033-4035)tcT>tcC		neurofascin							107	95	99					1																	204985658		2203	4300	6503	SO:0001819	synonymous_variant	23114				axon guidance|cell adhesion|myelination|peripheral nervous system development	integral to membrane|node of Ranvier|plasma membrane	protein binding	g.chr1:204985658T>C	AK027553	CCDS30982.1, CCDS53460.1, CCDS53461.1, CCDS53462.1	1q32.1	2013-02-11	2010-06-24		ENSG00000163531	ENSG00000163531		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	29866	protein-coding gene	gene with protein product		609145	"neurofascin homolog (chicken)"			1377696, 8672144	Standard	NM_015090		Approved	NRCAML, KIAA0756, FLJ46866, NF	uc001hbj.3	O94856	OTTHUMG00000151697	ENST00000401399.1:c.3714T>C	1.37:g.204985658T>C						NFASC_ENST00000495396.1_3'UTR|NFASC_ENST00000367171.4_Silent_p.S1330S|NFASC_ENST00000338515.6_Silent_p.S1255S|NFASC_ENST00000539706.1_Silent_p.S1172S|NFASC_ENST00000404907.1_Silent_p.S1172S|NFASC_ENST00000367170.4_Silent_p.S1266S|NFASC_ENST00000338586.6_Silent_p.S1222S|NFASC_ENST00000360049.4_Silent_p.S1167S|NFASC_ENST00000367169.4_Silent_p.S1069S|NFASC_ENST00000339876.6_Silent_p.S1238S|NFASC_ENST00000513543.1_Silent_p.S1167S|NFASC_ENST00000401399.1_Silent_p.S1238S|NFASC_ENST00000404076.1_Silent_p.S1155S	p.S1345S			O94856	NFASC_HUMAN	KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)		32	4363	+	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		1345					B2RNN8|B3KQZ1|B5MDP6|B5MDR6|B7ZMD8|Q149P5|Q5T2F0|Q5T2F1|Q5T2F2|Q5T2F3|Q5T2F4|Q5T2F5|Q5T2F6|Q5T2F7|Q5T2F9|Q5T2G0|Q5W9F8|Q68DH3|Q6ZQV6|Q7Z3K1|Q96HT1|Q96K50	Silent	SNP	ENST00000401399.1	37	c.4035T>C	CCDS53460.1	.	.	.	.	.	.	.	.	.	.	T	10.30	1.312929	0.23908	.	.	ENSG00000163531	ENST00000367173;ENST00000425360	.	.	.	5.34	-1.56	0.08532	.	.	.	.	.	T	0.41971	0.1182	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.28038	-1.0056	4	.	.	.	.	2.8974	0.05694	0.1286:0.4231:0.1306:0.3177	.	.	.	.	P	1039;296	.	.	L	+	2	0	NFASC	203252281	0.317000	0.24589	0.995000	0.50966	0.996000	0.88848	-0.423000	0.07034	-0.218000	0.10018	0.460000	0.39030	CTC		0.567	NFASC-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000131237.1	NM_001005388		8	29	0	0	0	1	0	8	29					C	204985658	T	C	204985658	2	2	353	1	0	0	0	0	0	0	0	1	10359	1538	54	4		4	NFASC	1	204985658	Silent	SNP	T	TCGA-M7-A721-01A-12D-A32B-08	52348827	204985658	44264963	3	17724											
LY75	4065	broad.mit.edu	37	chr2	160737746	160737746	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctatccacacttcttcttTgatatctaaaagaaaaatgt	14	14	4	9	0	3	2	0	1	3	1	4	2	4	2	2	0	0	0	2	0	6	6			TCGA-M7-A721-01A-12D-A32B-08	TCGA-M7-A721-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	292347c6-bf93-4cea-a220-25a1054e259c	aee1ef24-f3b6-446c-8ea1-d1d713c501db	g.chr2:160737746T>C	ENST00000263636.4	-	8	1279	c.1252A>G	c.(1252-1254)Aaa>Gaa	p.K418E	LY75_ENST00000553424.1_Missense_Mutation_p.K418E|LY75-CD302_ENST00000504764.1_Missense_Mutation_p.K418E|LY75-CD302_ENST00000505052.1_Missense_Mutation_p.K418E|LY75_ENST00000554112.1_Missense_Mutation_p.K418E	NM_002349.3	NP_002340.2	O60449	LY75_HUMAN	lymphocyte antigen 75	418	C-type lectin 2. {ECO:0000255|PROSITE- ProRule:PRU00040}.				endocytosis (GO:0006897)|immune response (GO:0006955)|inflammatory response (GO:0006954)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)			NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(22)|prostate(7)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	59				COAD - Colon adenocarcinoma(177;0.132)		ACTTCTTCTTTGATATCTAAA	0.284																																						ENST00000263636.4																			0				NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(22)|prostate(7)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	59						c.(1252-1254)Aaa>Gaa		lymphocyte antigen 75							130	124	126					2																	160737746		2203	4299	6502	SO:0001583	missense	4065							g.chr2:160737746T>C	AF011333	CCDS2211.1	2q24	2011-08-30			ENSG00000054219	ENSG00000054219		"CD molecules", "C-type lectin domain containing"	6729	protein-coding gene	gene with protein product		604524				9553150	Standard	NM_002349		Approved	DEC-205, CLEC13B, CD205		O60449	OTTHUMG00000132025	ENST00000263636.4:c.1252A>G	2.37:g.160737746T>C	ENSP00000263636:p.Lys418Glu					LY75_ENST00000553424.1_Missense_Mutation_p.K418E|LY75-CD302_ENST00000505052.1_Missense_Mutation_p.K418E|LY75-CD302_ENST00000504764.1_Missense_Mutation_p.K418E|LY75_ENST00000554112.1_Missense_Mutation_p.K418E	p.K418E	NM_002349.3	NP_002340.2				COAD - Colon adenocarcinoma(177;0.132)	8	1279	-								O75913|Q53R46|Q53TF5|Q7Z575|Q7Z577	Missense_Mutation	SNP	ENST00000263636.4	37	c.1252A>G	CCDS2211.1	.	.	.	.	.	.	.	.	.	.	T	12.69	2.013518	0.35511	.	.	ENSG00000054219;ENSG00000054219;ENSG00000054219;ENSG00000248672;ENSG00000248672	ENST00000554112;ENST00000553424;ENST00000263636;ENST00000504764;ENST00000505052	T;T;T;T;T	0.18657	2.2;2.2;2.2;2.2;2.2	6.05	2.14	0.27477	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	0.000000	0.37437	N	0.002091	T	0.09158	0.0226	N	0.14661	0.345	0.37333	D	0.910056	B;B;B;B	0.15930	0.002;0.015;0.008;0.007	B;B;B;B	0.16289	0.008;0.014;0.015;0.009	T	0.22382	-1.0218	10	0.13108	T	0.6	-14.5092	5.1736	0.15124	0.0:0.1777:0.2811:0.5412	.	36;418;418;418	Q59H44;O60449-3;O60449;O60449-2	.;.;LY75_HUMAN;.	E	418	ENSP00000451511:K418E;ENSP00000451446:K418E;ENSP00000263636:K418E;ENSP00000423463:K418E;ENSP00000421035:K418E	ENSP00000423463:K418E	K	-	1	0	LY75;LY75-CD302	160445992	0.985000	0.35326	0.997000	0.53966	0.966000	0.64601	0.251000	0.18257	0.504000	0.28082	0.528000	0.53228	AAA		0.284	LY75-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000255035.1			6	79	0	0	0	1	0	6	79					C	160737746	T	C	160737746	3	2	353	1	0	0	0	0	1	0	0	0	9099	1821	63	4	4028	4	LY75	2	160737746	Missense_Mutation	SNP	T	TCGA-M7-A721-01A-12D-A32B-08		160737746	82461627	4	17725											
ITGAV	3685	broad.mit.edu	37	chr2	187495563	187495563	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	acagggattttgtcaaggagGattcagcattgattttacta	12	14	10	5	0	2	1	2	1	0	0	2	4	2	4	0	3	2	1	0	3	3	7			TCGA-M7-A721-01A-12D-A32B-08	TCGA-M7-A721-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	292347c6-bf93-4cea-a220-25a1054e259c	aee1ef24-f3b6-446c-8ea1-d1d713c501db	g.chr2:187495563G>A	ENST00000261023.3	+	5	837	c.563G>A	c.(562-564)gGa>gAa	p.G188E	ITGAV_ENST00000433736.2_Missense_Mutation_p.G142E|ITGAV_ENST00000374907.3_Intron	NM_002210.3	NP_002201	P06756	ITAV_HUMAN	integrin, alpha V	188					angiogenesis (GO:0001525)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apolipoprotein A-I-mediated signaling pathway (GO:0038027)|apoptotic cell clearance (GO:0043277)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cell adhesion (GO:0007155)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cell-substrate adhesion (GO:0031589)|endodermal cell differentiation (GO:0035987)|entry of symbiont into host cell by promotion of host phagocytosis (GO:0052066)|ERK1 and ERK2 cascade (GO:0070371)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|negative chemotaxis (GO:0050919)|negative regulation of entry of bacterium into host cell (GO:2000536)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of lipid storage (GO:0010888)|negative regulation of lipid transport (GO:0032369)|negative regulation of lipoprotein metabolic process (GO:0050748)|negative regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045715)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of osteoblast proliferation (GO:0033690)|regulation of apoptotic cell clearance (GO:2000425)|regulation of phagocytosis (GO:0050764)|substrate adhesion-dependent cell spreading (GO:0034446)|viral entry into host cell (GO:0046718)	alphav-beta3 integrin-IGF-1-IGF1R complex (GO:0035867)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|integrin alphav-beta3 complex (GO:0034683)|integrin alphav-beta5 complex (GO:0034684)|integrin alphav-beta8 complex (GO:0034686)|integrin complex (GO:0008305)|lamellipodium membrane (GO:0031258)|membrane (GO:0016020)|microvillus membrane (GO:0031528)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	extracellular matrix binding (GO:0050840)|extracellular matrix protein binding (GO:1990430)|fibronectin binding (GO:0001968)|metal ion binding (GO:0046872)|protease binding (GO:0002020)|transforming growth factor beta binding (GO:0050431)|virus receptor activity (GO:0001618)|voltage-gated calcium channel activity (GO:0005245)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47			OV - Ovarian serous cystadenocarcinoma(117;0.0185)|Epithelial(96;0.072)|all cancers(119;0.189)	STAD - Stomach adenocarcinoma(3;0.106)|COAD - Colon adenocarcinoma(31;0.108)	Antithymocyte globulin(DB00098)	TGTCAAGGAGGATTCAGCATT	0.303																																					Melanoma(58;108 1995 6081)	ENST00000261023.3																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47						c.(562-564)gGa>gAa		integrin, alpha V							230	242	238					2																	187495563		2203	4300	6503	SO:0001583	missense	3685				angiogenesis|axon guidance|blood coagulation|cell-matrix adhesion|entry of bacterium into host cell|entry of symbiont into host cell by promotion of host phagocytosis|entry of virus into host cell|ERK1 and ERK2 cascade|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|positive regulation of cell adhesion|positive regulation of cell proliferation|regulation of apoptotic cell clearance	integrin complex	receptor activity|transforming growth factor beta binding	g.chr2:187495563G>A		CCDS2292.1, CCDS46470.1, CCDS46471.1	2q31-q32	2012-04-20	2012-04-20		ENSG00000138448	ENSG00000138448		"CD molecules", "Integrins"	6150	protein-coding gene	gene with protein product		193210	"antigen identified by monoclonal antibody L230", "vitronectin receptor", "integrin, alpha V (vitronectin receptor, alpha polypeptide, antigen CD51)"	VNRA, MSK8, VTNR		2454952	Standard	NM_001144999		Approved	CD51	uc002upq.4	P06756	OTTHUMG00000132635	ENST00000261023.3:c.563G>A	2.37:g.187495563G>A	ENSP00000261023:p.Gly188Glu					ITGAV_ENST00000433736.2_Missense_Mutation_p.G142E|ITGAV_ENST00000374907.3_Intron	p.G188E	NM_002210.3	NP_002201.1	P06756	ITAV_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0185)|Epithelial(96;0.072)|all cancers(119;0.189)	STAD - Stomach adenocarcinoma(3;0.106)|COAD - Colon adenocarcinoma(31;0.108)	5	837	+			188					A0AV67|B0LPF4|B7Z883|B7ZLX0|D3DPG8|E7EWZ6|Q53SK4|Q59EB7|Q6LD15	Missense_Mutation	SNP	ENST00000261023.3	37	c.563G>A	CCDS2292.1	.	.	.	.	.	.	.	.	.	.	G	24.8	4.571413	0.86542	.	.	ENSG00000138448	ENST00000544640;ENST00000261023;ENST00000433736	T;T	0.25250	1.81;1.81	5.97	5.97	0.96955	.	.	.	.	.	T	0.63200	0.2491	M	0.92507	3.315	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.70934	-0.4737	9	0.87932	D	0	.	18.6193	0.91316	0.0:0.0:1.0:0.0	.	142;188	E7EWZ6;P06756	.;ITAV_HUMAN	E	188;188;142	ENSP00000261023:G188E;ENSP00000404291:G142E	ENSP00000261023:G188E	G	+	2	0	ITGAV	187203808	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.966000	0.76073	2.836000	0.97738	0.655000	0.94253	GGA		0.303	ITGAV-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255882.2	NM_002210		16	169	0	0	0	1	0	16	169					A	187495563	G	A	187495563	3	1	353	1	0	0	0	0	1	0	0	0	7888	1174	41	3	632	3	ITGAV	2	187495563	Missense_Mutation	SNP	G	TCGA-M7-A721-01A-12D-A32B-08	26757817	187495563	55703810	5	17726											
ANO7	50636	broad.mit.edu	37	chr2	242128089	242128089	+	Silent	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cccctccccaccctctgtccCgcagtgaggacgggactcta	6	7	9	19	2	2	1	0	1	2	0	4	3	4	3	6	2	0	1	6	2	1	1			TCGA-M7-A721-01A-12D-A32B-08	TCGA-M7-A721-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	292347c6-bf93-4cea-a220-25a1054e259c	aee1ef24-f3b6-446c-8ea1-d1d713c501db	g.chr2:242128089C>G	ENST00000274979.8	+	1	166	c.63C>G	c.(61-63)ccC>ccG	p.P21P	ANO7_ENST00000402530.3_Silent_p.P21P|ANO7_ENST00000402430.3_Silent_p.P21P	NM_001001891.3	NP_001001891.2	Q6IWH7	ANO7_HUMAN	anoctamin 7	21					calcium activated galactosylceramide scrambling (GO:0061591)|calcium activated phosphatidylcholine scrambling (GO:0061590)|calcium activated phosphatidylserine scrambling (GO:0061589)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)|phospholipid scramblase activity (GO:0017128)			NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(14)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	32						CCCTCTGTCCCGCAGTGAGGA	0.672																																						ENST00000274979.8																			0				NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(14)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	32						c.(61-63)ccC>ccG		anoctamin 7							35	37	36					2																	242128089		2202	4300	6502	SO:0001819	synonymous_variant	50636					cell junction|chloride channel complex|cytosol	chloride channel activity	g.chr2:242128089C>G	AY617079	CCDS33423.1, CCDS46563.1	2q37.3	2014-04-09	2008-08-28	2008-08-28	ENSG00000146205	ENSG00000146205		"Ion channels / Chloride channels : Calcium activated : Anoctamins"	31677	protein-coding gene	gene with protein product		605096	"transmembrane protein 16G"	PCANAP5, TMEM16G		14981236, 15375614, 24692353	Standard	NM_001001891		Approved	NGEP, PCANAP5L, IPCA-5	uc002wax.2	Q6IWH7	OTTHUMG00000151702	ENST00000274979.8:c.63C>G	2.37:g.242128089C>G						ANO7_ENST00000402430.3_Silent_p.P21P|ANO7_ENST00000402530.3_Silent_p.P21P	p.P21P	NM_001001891.3	NP_001001891.2	Q6IWH7	ANO7_HUMAN			1	166	+			21					Q6IWH6	Silent	SNP	ENST00000274979.8	37	c.63C>G	CCDS33423.1																																																																																				0.672	ANO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323509.1	NM_001001891		3	22	0	0	0	1	0	3	22					G	242128089	C	G	242128089	2	3	353	1	0	0	0	0	0	0	0	1	702	639	23	5		5	ANO7	2	242128089	Silent	SNP	C	TCGA-M7-A721-01A-12D-A32B-08	54632526	242128089	1071284	6	17727											
HEMK1	51409	broad.mit.edu	37	chr3	50615277	50615277	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gcttcggttgcaggacaggaTttggatcatccacctcgaca	9	10	11	11	2	1	0	1	0	0	0	4	4	2	3	2	4	1	3	2	4	0	3			TCGA-M7-A721-01A-12D-A32B-08	TCGA-M7-A721-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	292347c6-bf93-4cea-a220-25a1054e259c	aee1ef24-f3b6-446c-8ea1-d1d713c501db	g.chr3:50615277T>G	ENST00000232854.4	+	7	1187	c.635T>G	c.(634-636)aTt>aGt	p.I212S	HEMK1_ENST00000455834.1_Missense_Mutation_p.I212S|HEMK1_ENST00000434410.1_Missense_Mutation_p.I212S	NM_016173.3	NP_057257.1	Q9Y5R4	HEMK1_HUMAN	HemK methyltransferase family member 1	212					DNA methylation (GO:0006306)	mitochondrion (GO:0005739)	DNA binding (GO:0003677)|N-methyltransferase activity (GO:0008170)|protein methyltransferase activity (GO:0008276)			lung(3)	3				BRCA - Breast invasive adenocarcinoma(193;0.000283)|KIRC - Kidney renal clear cell carcinoma(197;0.0179)|Kidney(197;0.0212)		CAGGACAGGATTTGGATCATC	0.557																																						ENST00000232854.4																			0				lung(3)	3						c.(634-636)aTt>aGt		HemK methyltransferase family member 1							174	153	160					3																	50615277		2203	4300	6503	SO:0001583	missense	51409				DNA methylation		DNA binding|N-methyltransferase activity|protein methyltransferase activity	g.chr3:50615277T>G	AF172244	CCDS2830.1	3p21	2008-02-05			ENSG00000114735	ENSG00000114735			24923	protein-coding gene	gene with protein product						10690633	Standard	XM_005265218		Approved	MTQ1	uc003dav.3	Q9Y5R4	OTTHUMG00000156849	ENST00000232854.4:c.635T>G	3.37:g.50615277T>G	ENSP00000232854:p.Ile212Ser					HEMK1_ENST00000434410.1_Missense_Mutation_p.I212S|HEMK1_ENST00000455834.1_Missense_Mutation_p.I212S	p.I212S	NM_016173.3	NP_057257.1	Q9Y5R4	HEMK1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000283)|KIRC - Kidney renal clear cell carcinoma(197;0.0179)|Kidney(197;0.0212)	7	1187	+			212						Missense_Mutation	SNP	ENST00000232854.4	37	c.635T>G	CCDS2830.1	.	.	.	.	.	.	.	.	.	.	T	16.61	3.170033	0.57584	.	.	ENSG00000114735	ENST00000434410;ENST00000232854;ENST00000455834	T;T;T	0.17370	2.28;2.28;2.28	4.75	4.75	0.60458	Methyltransferase small (1);	0.204828	0.42682	D	0.000667	T	0.37785	0.1016	M	0.73430	2.235	0.47511	D	0.999444	P	0.51240	0.943	P	0.62382	0.901	T	0.19224	-1.0312	10	0.87932	D	0	-1.6885	11.2057	0.48769	0.0:0.0:0.0:1.0	.	212	Q9Y5R4	HEMK1_HUMAN	S	212	ENSP00000404843:I212S;ENSP00000232854:I212S;ENSP00000404334:I212S	ENSP00000232854:I212S	I	+	2	0	HEMK1	50590281	0.997000	0.39634	0.985000	0.45067	0.275000	0.26752	3.815000	0.55651	2.094000	0.63399	0.459000	0.35465	ATT		0.557	HEMK1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346231.1	NM_016173		5	103	0	0	0	1	0	5	103					G	50615277	T	G	50615277	3	3	353	1	0	0	0	0	1	0	0	0	7051	1493	52	5	657	5	HEMK1	3	50615277	Missense_Mutation	SNP	T	TCGA-M7-A721-01A-12D-A32B-08		50615277	147407153	7	17728											
PPARGC1A	10891	broad.mit.edu	37	chr4	23815982	23815982	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caaacagccgcagactgggcCgcttggtcttcctttcctcg	6	10	10	15	3	1	1	0	0	1	1	4	1	3	1	4	2	2	2	4	2	1	3			TCGA-M7-A721-01A-12D-A32B-08	TCGA-M7-A721-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	292347c6-bf93-4cea-a220-25a1054e259c	aee1ef24-f3b6-446c-8ea1-d1d713c501db	g.chr4:23815982C>T	ENST00000264867.2	-	8	1243	c.1124G>A	c.(1123-1125)cGg>cAg	p.R375Q	PPARGC1A_ENST00000509702.1_5'UTR	NM_013261.3	NP_037393.1	Q9UBK2	PRGC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator 1 alpha	375	Mediates interaction with RNF34. {ECO:0000269|PubMed:22064484}.				androgen metabolic process (GO:0008209)|androgen receptor signaling pathway (GO:0030521)|brown fat cell differentiation (GO:0050873)|cellular glucose homeostasis (GO:0001678)|cellular respiration (GO:0045333)|cellular response to fatty acid (GO:0071398)|cellular response to hypoxia (GO:0071456)|cellular response to nitrite (GO:0071250)|cellular response to oxidative stress (GO:0034599)|cellular response to thyroid hormone stimulus (GO:0097067)|cellular response to tumor necrosis factor (GO:0071356)|circadian regulation of gene expression (GO:0032922)|digestion (GO:0007586)|fatty acid oxidation (GO:0019395)|flavone metabolic process (GO:0051552)|galactose metabolic process (GO:0006012)|gluconeogenesis (GO:0006094)|mitochondrion organization (GO:0007005)|mRNA processing (GO:0006397)|negative regulation of glycolytic process (GO:0045820)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of neuron death (GO:1901215)|negative regulation of receptor activity (GO:2000272)|positive regulation of ATP biosynthetic process (GO:2001171)|positive regulation of cellular respiration (GO:1901857)|positive regulation of energy homeostasis (GO:2000507)|positive regulation of fatty acid oxidation (GO:0046321)|positive regulation of gluconeogenesis (GO:0045722)|positive regulation of histone acetylation (GO:0035066)|positive regulation of mitochondrial DNA metabolic process (GO:1901860)|positive regulation of mitochondrion organization (GO:0010822)|positive regulation of muscle tissue development (GO:1901863)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein stabilization (GO:0050821)|regulation of circadian rhythm (GO:0042752)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of transcription, DNA-templated (GO:0006355)|respiratory electron transport chain (GO:0022904)|response to cold (GO:0009409)|response to epinephrine (GO:0071871)|response to leucine (GO:0043201)|response to muscle activity (GO:0014850)|response to norepinephrine (GO:0071873)|response to starvation (GO:0042594)|response to statin (GO:0036273)|RNA splicing (GO:0008380)|temperature homeostasis (GO:0001659)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytosol (GO:0005829)|DNA-directed RNA polymerase II, core complex (GO:0005665)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin DNA binding (GO:0031490)|DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)|RNA polymerase II transcription cofactor activity (GO:0001104)|sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|liver(1)|lung(24)|ovary(3)|skin(5)	51		Breast(46;0.0503)				CAGACTGGGCCGCTTGGTCTT	0.473																																					Esophageal Squamous(29;694 744 13796 34866 44181)	ENST00000264867.2																			0				central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|liver(1)|lung(24)|ovary(3)|skin(5)	51						c.(1123-1125)cGg>cAg		peroxisome proliferator-activated receptor gamma, coactivator 1 alpha							78	84	82					4																	23815982		2203	4300	6503	SO:0001583	missense	10891				androgen receptor signaling pathway|brown fat cell differentiation|cellular glucose homeostasis|digestion|fatty acid oxidation|gluconeogenesis|mitochondrion organization|mRNA processing|neuron death|positive regulation of fatty acid oxidation|positive regulation of gluconeogenesis|positive regulation of histone acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|protein complex assembly|protein stabilization|response to muscle activity|response to starvation|RNA splicing|temperature homeostasis|transcription initiation from RNA polymerase II promoter	DNA-directed RNA polymerase II, core complex	androgen receptor binding|DNA binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|RNA binding|RNA polymerase II transcription cofactor activity|transcription factor binding	g.chr4:23815982C>T	AF106698	CCDS3429.1	4p15.1	2013-02-12	2006-10-17	2004-02-04	ENSG00000109819	ENSG00000109819		"RNA binding motif (RRM) containing"	9237	protein-coding gene	gene with protein product		604517	"peroxisome proliferative activated receptor, gamma, coactivator 1", "peroxisome proliferative activated receptor, gamma, coactivator 1, alpha"	PPARGC1		10585775	Standard	NM_013261		Approved	PGC1, PGC1A	uc003gqs.3	Q9UBK2	OTTHUMG00000097747	ENST00000264867.2:c.1124G>A	4.37:g.23815982C>T	ENSP00000264867:p.Arg375Gln					PPARGC1A_ENST00000509702.1_5'UTR	p.R375Q	NM_013261.3	NP_037393.1	Q9UBK2	PRGC1_HUMAN			8	1243	-		Breast(46;0.0503)	375					B7Z406|G8DM16|I3RTT5|I3RTT6|I3RTT7|I3RTT8|I3RTT9|Q3LIG1|Q4W5M7|Q9UN32	Missense_Mutation	SNP	ENST00000264867.2	37	c.1124G>A	CCDS3429.1	.	.	.	.	.	.	.	.	.	.	C	27.0	4.793197	0.90453	.	.	ENSG00000109819	ENST00000264867	T	0.43294	0.95	6.16	6.16	0.99307	.	0.051310	0.85682	D	0.000000	T	0.39517	0.1081	M	0.64080	1.96	0.80722	D	1	P	0.44429	0.835	B	0.25405	0.06	T	0.48758	-0.9007	10	0.59425	D	0.04	-7.0295	20.8598	0.99761	0.0:1.0:0.0:0.0	.	375	Q9UBK2	PRGC1_HUMAN	Q	375	ENSP00000264867:R375Q	ENSP00000264867:R375Q	R	-	2	0	PPARGC1A	23425080	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.263000	0.78421	2.937000	0.99478	0.650000	0.86243	CGG		0.473	PPARGC1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214976.1	NM_013261		13	65	0	0	0	1	0	13	65					T	23815982	C	T	23815982	3	4	353	1	0	0	0	0	1	0	0	0	12300	652	23	2	1296	2	PPARGC1A	4	23815982	Missense_Mutation	SNP	C	TCGA-M7-A721-01A-12D-A32B-08		23815982	167338294	8	17729											
FAT4	79633	broad.mit.edu	37	chr4	126241810	126241810	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcacgtgagggactttaatgAcaatcctcctagctttcctc	9	13	7	12	1	1	2	1	2	0	0	5	3	4	3	3	1	1	1	3	1	3	4			TCGA-M7-A721-01A-12D-A32B-08	TCGA-M7-A721-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	292347c6-bf93-4cea-a220-25a1054e259c	aee1ef24-f3b6-446c-8ea1-d1d713c501db	g.chr4:126241810A>C	ENST00000394329.3	+	1	4257	c.4244A>C	c.(4243-4245)gAc>gCc	p.D1415A		NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	1415	Cadherin 13. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						GACTTTAATGACAATCCTCCT	0.398																																						ENST00000394329.3																			0				NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						c.(4243-4245)gAc>gCc		FAT atypical cadherin 4							141	132	135					4																	126241810		1861	4095	5956	SO:0001583	missense	79633				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:126241810A>C	AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"Cadherins / Cadherin-related"	23109	protein-coding gene	gene with protein product	"cadherin-related family member 11"	612411	"FAT tumor suppressor homolog 4 (Drosophila)"			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.4244A>C	4.37:g.126241810A>C	ENSP00000377862:p.Asp1415Ala						p.D1415A	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN			1	4257	+			1415			Cadherin 13.		A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Missense_Mutation	SNP	ENST00000394329.3	37	c.4244A>C	CCDS3732.3	.	.	.	.	.	.	.	.	.	.	A	22.5	4.295626	0.81025	.	.	ENSG00000196159	ENST00000394329	T	0.71579	-0.58	4.87	4.87	0.63330	Cadherin (3);Cadherin conserved site (1);Cadherin-like (1);	0.000000	0.36101	U	0.002792	D	0.85635	0.5742	M	0.92555	3.32	0.80722	D	1	D	0.63046	0.992	P	0.60286	0.872	D	0.89382	0.3682	10	0.72032	D	0.01	.	14.6255	0.68618	1.0:0.0:0.0:0.0	.	1415	Q6V0I7	FAT4_HUMAN	A	1415	ENSP00000377862:D1415A	ENSP00000377862:D1415A	D	+	2	0	FAT4	126461260	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	8.949000	0.93012	2.050000	0.60909	0.533000	0.62120	GAC		0.398	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582		4	188	0	0	0	1	0	4	188					C	126241810	A	C	126241810	3	2	353	1	0	0	0	0	1	0	0	0	5692	275	10	5	4246	5	FAT4	4	126241810	Missense_Mutation	SNP	A	TCGA-M7-A721-01A-12D-A32B-08	102425828	126241810	64912466	9	17730											
ADAM29	11086	broad.mit.edu	37	chr4	175896818	175896818	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gcaccaccagaggcatgacaCctccaggctggctctcctat	9	7	9	16	0	1	2	0	1	1	1	3	2	2	2	5	3	0	4	5	3	1	1			TCGA-M7-A721-01A-12D-A32B-08	TCGA-M7-A721-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	292347c6-bf93-4cea-a220-25a1054e259c	aee1ef24-f3b6-446c-8ea1-d1d713c501db	g.chr4:175896818C>A	ENST00000359240.3	+	5	812	c.142C>A	c.(142-144)Cct>Act	p.P48T	ADAM29_ENST00000445694.1_Missense_Mutation_p.P48T|RP13-577H12.2_ENST00000507525.1_RNA|ADAM29_ENST00000514159.1_Missense_Mutation_p.P48T|ADAM29_ENST00000404450.4_Missense_Mutation_p.P48T	NM_001278125.1|NM_014269.4	NP_001265054.1|NP_055084.3	Q9UKF5	ADA29_HUMAN	ADAM metallopeptidase domain 29	48					spermatogenesis (GO:0007283)	integral component of plasma membrane (GO:0005887)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)		AGGCATGACACCTCCAGGCTG	0.512																																					Ovarian(140;1727 1835 21805 25838 41440)	ENST00000359240.3																			0				NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93						c.(142-144)Cct>Act		ADAM metallopeptidase domain 29							63	59	60					4																	175896818		2203	4300	6503	SO:0001583	missense	11086				proteolysis|spermatogenesis	integral to plasma membrane	metalloendopeptidase activity|zinc ion binding	g.chr4:175896818C>A	AF171929	CCDS3823.1	4q34.1	2012-05-16	2005-08-18		ENSG00000168594	ENSG00000168594		"ADAM metallopeptidase domain containing"	207	protein-coding gene	gene with protein product	"cancer/testis antigen 73"	604778	"a disintegrin and metalloproteinase domain 29"			10644455	Standard	NM_014269		Approved	svph1, CT73	uc031shw.1	Q9UKF5	OTTHUMG00000160764	ENST00000359240.3:c.142C>A	4.37:g.175896818C>A	ENSP00000352177:p.Pro48Thr					ADAM29_ENST00000514159.1_Missense_Mutation_p.P48T|ADAM29_ENST00000404450.4_Missense_Mutation_p.P48T|ADAM29_ENST00000445694.1_Missense_Mutation_p.P48T	p.P48T	NM_001278125.1|NM_014269.4	NP_001265054.1|NP_055084.3	Q9UKF5	ADA29_HUMAN		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)	5	812	+		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)	48					Q4W5F3|Q9UHP1|Q9UKF3|Q9UKF4	Missense_Mutation	SNP	ENST00000359240.3	37	c.142C>A	CCDS3823.1	.	.	.	.	.	.	.	.	.	.	C	1.750	-0.489533	0.04352	.	.	ENSG00000168594	ENST00000359240;ENST00000445694;ENST00000502940;ENST00000404450;ENST00000514159	T;T;T;T;T	0.05580	3.42;3.42;3.42;3.42;3.42	4.06	-8.12	0.01078	Peptidase M12B, propeptide (1);	1.535810	0.04628	U	0.403117	T	0.04003	0.0112	L	0.38953	1.18	0.09310	N	1	B	0.14012	0.009	B	0.15484	0.013	T	0.36744	-0.9735	9	.	.	.	.	1.0871	0.01655	0.2872:0.1459:0.3434:0.2235	.	48	Q9UKF5	ADA29_HUMAN	T	48	ENSP00000352177:P48T;ENSP00000414544:P48T;ENSP00000427674:P48T;ENSP00000384229:P48T;ENSP00000423517:P48T	.	P	+	1	0	ADAM29	176133393	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.996000	0.03709	-2.615000	0.00443	-2.080000	0.00379	CCT		0.512	ADAM29-201	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding				3	42	1	0	1	1	1	3	42					A	175896818	C	A	175896818	3	1	353	1	0	0	0	0	1	0	0	0	247	507	18	5	144	5	ADAM29	4	175896818	Missense_Mutation	SNP	C	TCGA-M7-A721-01A-12D-A32B-08	49655008	175896818	15257458	10	17731											
HEXB	3074	broad.mit.edu	37	chr5	74014787	74014787	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	actataaagtggaacctcttGattttggcggtaagtgaagc	12	12	11	6	1	1	2	0	2	1	0	1	3	1	3	1	3	2	1	1	3	6	6			TCGA-M7-A721-01A-12D-A32B-08	TCGA-M7-A721-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	292347c6-bf93-4cea-a220-25a1054e259c	aee1ef24-f3b6-446c-8ea1-d1d713c501db	g.chr5:74014787G>A	ENST00000261416.7	+	11	1525	c.1408G>A	c.(1408-1410)Gat>Aat	p.D470N	HEXB_ENST00000509579.1_5'Flank|HEXB_ENST00000511181.1_Missense_Mutation_p.D245N|GFM2_ENST00000515125.1_5'Flank|HEXB_ENST00000513539.1_3'UTR	NM_000521.3	NP_000512	P07686	HEXB_HUMAN	hexosaminidase B (beta polypeptide)	470					astrocyte cell migration (GO:0043615)|carbohydrate metabolic process (GO:0005975)|cell death (GO:0008219)|cellular calcium ion homeostasis (GO:0006874)|cellular protein metabolic process (GO:0044267)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|ganglioside catabolic process (GO:0006689)|glycosaminoglycan metabolic process (GO:0030203)|glycosphingolipid metabolic process (GO:0006687)|hyaluronan catabolic process (GO:0030214)|hyaluronan metabolic process (GO:0030212)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|lipid storage (GO:0019915)|locomotory behavior (GO:0007626)|lysosome organization (GO:0007040)|male courtship behavior (GO:0008049)|myelination (GO:0042552)|neuromuscular process controlling balance (GO:0050885)|oligosaccharide catabolic process (GO:0009313)|oogenesis (GO:0048477)|penetration of zona pellucida (GO:0007341)|phospholipid biosynthetic process (GO:0008654)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell shape (GO:0008360)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	acrosomal vesicle (GO:0001669)|extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)	beta-N-acetylhexosaminidase activity (GO:0004563)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			endometrium(2)|kidney(3)|large_intestine(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	14		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Breast(144;0.231)		OV - Ovarian serous cystadenocarcinoma(47;1.72e-57)		GGAACCTCTTGATTTTGGCGG	0.413																																					Melanoma(66;841 1270 13391 18706 27225)	ENST00000511181.1																			0				endometrium(2)|kidney(3)|large_intestine(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	14						c.(733-735)Gat>Aat		hexosaminidase B (beta polypeptide)							157	160	159					5																	74014787		2203	4300	6503	SO:0001583	missense	3074				cell death	lysosome	cation binding|protein heterodimerization activity|protein homodimerization activity	g.chr5:74014787G>A	M13519	CCDS4022.1	5q13.3	2012-10-02			ENSG00000049860	ENSG00000049860	3.2.1.52		4879	protein-coding gene	gene with protein product		606873				2579389, 3013851	Standard	NM_000521		Approved		uc003kdf.4	P07686	OTTHUMG00000102057	ENST00000261416.7:c.1408G>A	5.37:g.74014787G>A	ENSP00000261416:p.Asp470Asn					HEXB_ENST00000261416.7_Missense_Mutation_p.D470N|HEXB_ENST00000513539.1_3'UTR	p.D245N			P07686	HEXB_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;1.72e-57)	11	1645	+		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Breast(144;0.231)	470						Missense_Mutation	SNP	ENST00000261416.7	37	c.733G>A	CCDS4022.1	.	.	.	.	.	.	.	.	.	.	G	10.71	1.425688	0.25639	.	.	ENSG00000049860	ENST00000511181;ENST00000261416	D;D	0.95342	-3.68;-3.68	5.98	-11.2	0.00127	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);Glycoside hydrolase, family 20, catalytic core (1);	1.075540	0.06985	N	0.820719	D	0.85115	0.5623	N	0.17764	0.52	0.09310	N	1	B	0.06786	0.001	B	0.12837	0.008	T	0.69807	-0.5045	10	0.08179	T	0.78	-1.04	13.8818	0.63686	0.7344:0.1609:0.1047:0.0	.	470	P07686	HEXB_HUMAN	N	245;470	ENSP00000426285:D245N;ENSP00000261416:D470N	ENSP00000261416:D470N	D	+	1	0	HEXB	74050543	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.124000	0.10595	-1.801000	0.01245	-0.482000	0.04802	GAT		0.413	HEXB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219859.6	NM_000521		7	95	0	0	0	1	0	7	95					A	74014787	G	A	74014787	3	1	353	1	0	0	0	0	1	0	0	0	7074	1290	45	3	1450	3	HEXB	5	74014787	Missense_Mutation	SNP	G	TCGA-M7-A721-01A-12D-A32B-08		74014787	106900473	11	17732											
NR3C1	2908	broad.mit.edu	37	chr5	142658957	142658957	+	3'UTR	DEL	G	G	-																															atgtgtgagatgtgctttctGgttttaaccacataacattc																										TCGA-M7-A721-01A-12D-A32B-08	TCGA-M7-A721-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	292347c6-bf93-4cea-a220-25a1054e259c	aee1ef24-f3b6-446c-8ea1-d1d713c501db	g.chr5:142658957delG	ENST00000343796.2	-	0	5824				NR3C1_ENST00000394464.2_3'UTR|NR3C1_ENST00000415690.2_Frame_Shift_Del_p.P734fs	NM_001018074.1|NM_001018075.1|NM_001018077.1	NP_001018084.1|NP_001018085.1|NP_001018087.1	P04150	GCR_HUMAN	nuclear receptor subfamily 3, group C, member 1 (glucocorticoid receptor)						adrenal gland development (GO:0030325)|chromatin modification (GO:0016568)|gene expression (GO:0010467)|glucocorticoid metabolic process (GO:0008211)|mammary gland duct morphogenesis (GO:0060603)|negative regulation of glucocorticoid mediated signaling pathway (GO:1900170)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of glucocorticoid biosynthetic process (GO:0031946)|regulation of gluconeogenesis (GO:0006111)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrial matrix (GO:0005759)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	glucocorticoid receptor activity (GO:0004883)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid binding (GO:0005496)|zinc ion binding (GO:0008270)			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	35		Acute lymphoblastic leukemia(2;3.2e-05)|all_hematologic(2;0.000361)	KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176)		Alclometasone(DB00240)|Amcinonide(DB00288)|Beclomethasone(DB00394)|Betamethasone(DB00443)|Budesonide(DB01222)|Ciclesonide(DB01410)|Clobetasol propionate(DB01013)|Clocortolone(DB00838)|Cortisone acetate(DB01380)|Desonide(DB01260)|Desoximetasone(DB00547)|Dexamethasone(DB01234)|Diflorasone(DB00223)|Difluprednate(DB06781)|Fludrocortisone(DB00687)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Fluoxymesterone(DB01185)|Flurandrenolide(DB00846)|Fluticasone furoate(DB08906)|Fluticasone Propionate(DB00588)|Halobetasol Propionate(DB00596)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Loteprednol(DB00873)|Medrysone(DB00253)|Megestrol acetate(DB00351)|Methylprednisolone(DB00959)|Mifepristone(DB00834)|Mometasone(DB00764)|Paramethasone(DB01384)|Prednicarbate(DB01130)|Prednisolone(DB00860)|Prednisone(DB00635)|Rimexolone(DB00896)|Spironolactone(DB00421)|Triamcinolone(DB00620)	TGTGCTTTCTGGTTTTAACCA	0.318																																						ENST00000415690.2																			0				breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	35						c.(2200-2202)cafs		nuclear receptor subfamily 3, group C, member 1 (glucocorticoid receptor)	Amcinonide(DB00288)|Betamethasone(DB00443)|Budesonide(DB01222)|Dexamethasone(DB01234)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluticasone Propionate(DB00588)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Loteprednol Etabonate(DB00873)|Methylprednisolone(DB00959)|Mifepristone(DB00834)|Mometasone(DB00764)|Prednisone(DB00635)						151	137	141					5																	142658957		1831	4080	5911	SO:0001624	3_prime_UTR_variant	2908				chromatin modification|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to protein stimulus|transcription from RNA polymerase II promoter	mitochondrial matrix|nucleoplasm	glucocorticoid receptor activity|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|zinc ion binding	g.chr5:142658957delG	X03225	CCDS4278.1, CCDS34258.1, CCDS47298.1	5q31-q32	2013-01-16	2002-08-27		ENSG00000113580	ENSG00000113580		"Nuclear hormone receptors"	7978	protein-coding gene	gene with protein product		138040	"nuclear receptor subfamily 3, group C, member 1"	GRL		2867473	Standard	NM_001204258		Approved	GR	uc003lnb.3	P04150	OTTHUMG00000129677	ENST00000343796.2:c.*2497C>-	5.37:g.142658957delG						NR3C1_ENST00000343796.2_3'UTR|NR3C1_ENST00000394464.2_3'UTR	p.P734fs			P04150	GCR_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176)		9	2332	-		Acute lymphoblastic leukemia(2;3.2e-05)|all_hematologic(2;0.000361)	0			Steroid-binding.		A0ZXF9|B0LPG8|D3DQF4|P04151|Q53EP5|Q6N0A4	Frame_Shift_Del	DEL	ENST00000343796.2	37	c.2201delC	CCDS4278.1																																																																																				0.318	NR3C1-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000370829.1			2	4						2	4	---	---	---	---	-	142658957	G	-	142658957	6	5	353	0	1	1	0	1	0	0	0	0	10630	1348	47	0		0	NR3C1	5	142658957	3'UTR	DEL	G	TCGA-M7-A721-01A-12D-A32B-08	68644170	142658957	38256303	12	17733											
FBXW11	23291	broad.mit.edu	37	chr5	171299876	171299876	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcacaccaacttctacccacCtaatggtattatctgatgat	12	12	5	12	0	2	2	0	2	2	0	2	2	2	2	3	1	2	2	3	1	5	5			TCGA-M7-A721-01A-12D-A32B-08	TCGA-M7-A721-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	292347c6-bf93-4cea-a220-25a1054e259c	aee1ef24-f3b6-446c-8ea1-d1d713c501db	g.chr5:171299876C>A	ENST00000265094.5	-	9	1414	c.1277G>T	c.(1276-1278)aGg>aTg	p.R426M	FBXW11_ENST00000296933.6_Splice_Site_p.R413M|FBXW11_ENST00000393802.2_Splice_Site_p.R392M|FBXW11_ENST00000425623.2_Splice_Site_p.R394M	NM_012300.2	NP_036432.2	Q9UKB1	FBW1B_HUMAN	F-box and WD repeat domain containing 11	426					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of circadian rhythm (GO:0042753)|positive regulation of proteolysis (GO:0045862)|positive regulation of transcription, DNA-templated (GO:0045893)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein dephosphorylation (GO:0006470)|protein destabilization (GO:0031648)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|rhythmic process (GO:0048511)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|Wnt signaling pathway (GO:0016055)	centrosome (GO:0005813)|cytosol (GO:0005829)|nucleus (GO:0005634)|SCF ubiquitin ligase complex (GO:0019005)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|prostate(2)|urinary_tract(2)	21	Renal(175;0.000159)|Lung NSC(126;0.00384)|all_lung(126;0.00659)	Medulloblastoma(196;0.00853)|all_neural(177;0.026)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			TTCTACCCACCTAATGGTATT	0.463																																						ENST00000296933.6																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|prostate(2)|urinary_tract(2)	21						c.e9+1		F-box and WD repeat domain containing 11							113	100	104					5																	171299876		2203	4300	6503	SO:0001630	splice_region_variant	23291				cell cycle|negative regulation of transcription, DNA-dependent|positive regulation of circadian rhythm|positive regulation of proteolysis|positive regulation of transcription, DNA-dependent|protein dephosphorylation|protein destabilization|protein polyubiquitination|rhythmic process|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway	centrosome|cytosol|nucleus|SCF ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity	g.chr5:171299876C>A	AB014596	CCDS34289.1, CCDS47340.1, CCDS47341.1	5q35.1	2013-01-09	2007-02-08	2004-06-16	ENSG00000072803	ENSG00000072803		"F-boxes / WD-40 domains", "WD repeat domain containing"	13607	protein-coding gene	gene with protein product		605651	"F-box and WD-40 domain protein 1B", "F-box and WD-40 domain protein 11"	FBXW1B		10531035, 10694485	Standard	NM_033644		Approved	KIAA0696, Fbw1b, BTRCP2, BTRC2, Hos, Fbw11	uc003mbm.1	Q9UKB1	OTTHUMG00000163267	ENST00000265094.5:c.1277+1G>T	5.37:g.171299876C>A						FBXW11_ENST00000265094.5_Splice_Site_p.R426_splice|FBXW11_ENST00000425623.2_Splice_Site_p.R394_splice|FBXW11_ENST00000393802.2_Splice_Site_p.R392_splice	p.R413_splice	NM_033644.2|NM_033645.2	NP_387448.2|NP_387449.2	Q9UKB1	FBW1B_HUMAN	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)		9	1608	-	Renal(175;0.000159)|Lung NSC(126;0.00384)|all_lung(126;0.00659)	Medulloblastoma(196;0.00853)|all_neural(177;0.026)	426					B2RC98|Q9P2S8|Q9P2S9|Q9Y4C6	Splice_Site	SNP	ENST00000265094.5	37	c.1238_splice	CCDS34289.1	.	.	.	.	.	.	.	.	.	.	C	28.3	4.907996	0.92107	.	.	ENSG00000072803	ENST00000296933;ENST00000265094;ENST00000393802;ENST00000425623	T;T;T;T	0.67865	-0.29;-0.29;-0.29;-0.29	5.63	5.63	0.86233	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40 repeat, conserved site (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.81245	0.4782	M	0.67397	2.05	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.998;0.998;0.999;0.997	T	0.79680	-0.1702	9	.	.	.	-12.4067	19.3047	0.94157	0.0:1.0:0.0:0.0	.	394;392;426;413	B4DH70;Q9UKB1-2;Q9UKB1;Q9UKB1-3	.;.;FBW1B_HUMAN;.	M	413;426;392;394	ENSP00000296933:R413M;ENSP00000265094:R426M;ENSP00000377391:R392M;ENSP00000444929:R394M	.	R	-	2	0	FBXW11	171232481	1.000000	0.71417	0.998000	0.56505	0.771000	0.43674	7.770000	0.85390	2.652000	0.90054	0.655000	0.94253	AGG		0.463	FBXW11-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000372382.1	NM_012300	Missense_Mutation	4	30	1	0	1.23904e-05	1	1.37931e-05	4	30					A	171299876	C	A	171299876	5	1	353	1	0	0	0	0	0	0	1	0	5764	695	24	5	367	5	FBXW11	5	171299876	Splice_Site	SNP	C	TCGA-M7-A721-01A-12D-A32B-08	28640919	171299876	9615384	13	17734											
USP49	25862	broad.mit.edu	37	chr6	41773969	41773969	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggttgcgcaggcccgtgacGcctggggccatggccggctg	4	6	18	13	4	0	1	0	1	0	0	0	1	0	1	4	6	1	3	4	6	0	1			TCGA-M7-A721-01A-12D-A32B-08	TCGA-M7-A721-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	292347c6-bf93-4cea-a220-25a1054e259c	aee1ef24-f3b6-446c-8ea1-d1d713c501db	g.chr6:41773969G>A	ENST00000394253.3	-	3	1082	c.753C>T	c.(751-753)ggC>ggT	p.G251G	USP49_ENST00000297229.2_Silent_p.G251G|USP49_ENST00000373006.1_Silent_p.G251G|USP49_ENST00000373010.1_Silent_p.G251G|USP49_ENST00000373009.3_Silent_p.G251G			Q70CQ1	UBP49_HUMAN	ubiquitin specific peptidase 49	251					histone H2B conserved C-terminal lysine deubiquitination (GO:0035616)|mRNA splicing, via spliceosome (GO:0000398)|protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|histone binding (GO:0042393)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(3)|prostate(2)|skin(2)	23	Ovarian(28;0.0919)|Colorectal(47;0.121)		STAD - Stomach adenocarcinoma(11;0.000204)|Epithelial(12;0.000309)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			GGCCCGTGACGCCTGGGGCCA	0.677																																						ENST00000394253.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(3)|prostate(2)|skin(2)	23						c.(751-753)ggC>ggT		ubiquitin specific peptidase 49							35	36	36					6																	41773969		2200	4291	6491	SO:0001819	synonymous_variant	25862				ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity|zinc ion binding	g.chr6:41773969G>A	AJ586139	CCDS4861.1, CCDS69111.1	6p12.1	2008-02-05	2005-08-08		ENSG00000164663	ENSG00000164663		"Ubiquitin-specific peptidases"	20078	protein-coding gene	gene with protein product			"ubiquitin specific protease 49"			14715245	Standard	NM_018561		Approved	MGC20741	uc003ori.3	Q70CQ1	OTTHUMG00000014688	ENST00000394253.3:c.753C>T	6.37:g.41773969G>A						USP49_ENST00000297229.2_Silent_p.G251G|USP49_ENST00000373009.3_Silent_p.G251G|USP49_ENST00000373006.1_Silent_p.G251G|USP49_ENST00000373010.1_Silent_p.G251G	p.G251G			Q70CQ1	UBP49_HUMAN	STAD - Stomach adenocarcinoma(11;0.000204)|Epithelial(12;0.000309)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)		3	1082	-	Ovarian(28;0.0919)|Colorectal(47;0.121)		251					Q5T3D9|Q5T3E0|Q96CK4	Silent	SNP	ENST00000394253.3	37	c.753C>T																																																																																					0.677	USP49-007	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000316513.3	NM_018561		8	41	0	0	0	1	0	8	41					A	41773969	G	A	41773969	2	1	353	1	0	0	0	0	0	0	0	1	17077	1074	38	1		1	USP49	6	41773969	Silent	SNP	G	TCGA-M7-A721-01A-12D-A32B-08		41773969	129341098	14	17735											
DEFB112	245915	broad.mit.edu	37	chr6	50011466	50011466	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tacatcgacctccaatcgctGtacatgacttccacctacta	11	11	4	15	2	0	1	0	1	0	0	4	2	2	1	4	0	3	2	4	0	5	5			TCGA-M7-A721-01A-12D-A32B-08	TCGA-M7-A721-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	292347c6-bf93-4cea-a220-25a1054e259c	aee1ef24-f3b6-446c-8ea1-d1d713c501db	g.chr6:50011466G>A	ENST00000322246.4	-	2	163	c.164C>T	c.(163-165)aCa>aTa	p.T55I		NM_001037498.1	NP_001032587.1	Q30KQ8	DB112_HUMAN	defensin, beta 112	55					defense response to bacterium (GO:0042742)	extracellular region (GO:0005576)				central_nervous_system(1)|large_intestine(3)|lung(12)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	19	Lung NSC(77;0.042)					TCCAATCGCTGTACATGACTT	0.428																																						ENST00000322246.4																			0				central_nervous_system(1)|large_intestine(3)|lung(12)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	19						c.(163-165)aCa>aTa		defensin, beta 112							193	153	167					6																	50011466		2203	4300	6503	SO:0001583	missense	245915				defense response to bacterium	extracellular region		g.chr6:50011466G>A	DQ012016	CCDS34476.1	6p12.3	2010-03-30			ENSG00000180872	ENSG00000180872		"Defensins, beta"	18093	protein-coding gene	gene with protein product						11854508, 16033865	Standard	NM_001037498		Approved	DEFB-12	uc011dws.2	Q30KQ8	OTTHUMG00000160215	ENST00000322246.4:c.164C>T	6.37:g.50011466G>A	ENSP00000319126:p.Thr55Ile						p.T55I	NM_001037498.1	NP_001032587.1	Q30KQ8	DB112_HUMAN			2	163	-	Lung NSC(77;0.042)		55					Q8NET0	Missense_Mutation	SNP	ENST00000322246.4	37	c.164C>T	CCDS34476.1	.	.	.	.	.	.	.	.	.	.	G	0.005	-2.209872	0.00292	.	.	ENSG00000180872	ENST00000322246	T	0.11385	2.78	3.43	-6.86	0.01676	.	1.965050	0.02967	N	0.143923	T	0.00440	0.0014	N	0.00538	-1.39	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.39272	-0.9622	10	0.06891	T	0.86	-0.3466	0.525	0.00618	0.1864:0.2372:0.1845:0.392	.	55	Q30KQ8	DB112_HUMAN	I	55	ENSP00000319126:T55I	ENSP00000319126:T55I	T	-	2	0	DEFB112	50119425	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-5.264000	0.00136	-2.018000	0.00943	-1.690000	0.00728	ACA		0.428	DEFB112-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359672.1	NM_001037498		4	102	0	0	0	1	0	4	102					A	50011466	G	A	50011466	3	1	353	1	0	0	0	0	1	0	0	0	4401	1377	48	3	180	3	DEFB112	6	50011466	Missense_Mutation	SNP	G	TCGA-M7-A721-01A-12D-A32B-08	8237497	50011466	121103601	15	17736											
ZMIZ2	83637	broad.mit.edu	37	chr7	44801486	44801486	+	Silent	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcaacaccatccagatcacCgtcaccgcctgctgctgcgt	8	7	8	18	4	2	1	2	0	0	1	3	1	3	1	5	0	4	3	5	0	1	0			TCGA-M7-A721-01A-12D-A32B-08	TCGA-M7-A721-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	292347c6-bf93-4cea-a220-25a1054e259c	aee1ef24-f3b6-446c-8ea1-d1d713c501db	g.chr7:44801486C>G	ENST00000309315.4	+	11	1701	c.1578C>G	c.(1576-1578)acC>acG	p.T526T	ZMIZ2_ENST00000441627.1_Silent_p.T526T|ZMIZ2_ENST00000433667.1_Silent_p.T494T|ZMIZ2_ENST00000265346.7_Silent_p.T500T|ZMIZ2_ENST00000413916.1_Silent_p.T468T	NM_031449.3	NP_113637.3	Q8NF64	ZMIZ2_HUMAN	zinc finger, MIZ-type containing 2	526					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	mitochondrion (GO:0005739)|nuclear replication fork (GO:0043596)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|zinc ion binding (GO:0008270)			breast(3)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						TCCAGATCACCGTCACCGCCT	0.697																																					NSCLC(20;604 852 1948 16908 50522)	ENST00000309315.4																			0				breast(3)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						c.(1576-1578)acC>acG		zinc finger, MIZ-type containing 2							85	85	85					7																	44801486		2203	4300	6503	SO:0001819	synonymous_variant	83637				positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear replication fork	ligand-dependent nuclear receptor transcription coactivator activity|protein binding|zinc ion binding	g.chr7:44801486C>G	AK090415	CCDS43576.1, CCDS43577.1, CCDS75591.1	7p13	2009-11-06			ENSG00000122515	ENSG00000122515		"Zinc fingers, MIZ-type"	22229	protein-coding gene	gene with protein product		611196					Standard	XM_005249866		Approved	KIAA1886, hZIMP7, ZIMP7, DKFZp761I2123, NET27	uc003tlr.3	Q8NF64	OTTHUMG00000155817	ENST00000309315.4:c.1578C>G	7.37:g.44801486C>G						ZMIZ2_ENST00000441627.1_Silent_p.T526T|ZMIZ2_ENST00000433667.1_Silent_p.T494T|ZMIZ2_ENST00000413916.1_Silent_p.T468T|ZMIZ2_ENST00000265346.7_Silent_p.T500T	p.T526T	NM_031449.3	NP_113637.3	Q8NF64	ZMIZ2_HUMAN			11	1701	+			526					A4D2K7|D3DVL1|O94790|Q0VGB4|Q659A8|Q6JKL5|Q8WTX8|Q96Q01|Q9BQH7	Silent	SNP	ENST00000309315.4	37	c.1578C>G	CCDS43576.1	.	.	.	.	.	.	.	.	.	.	C	10.06	1.247017	0.22796	.	.	ENSG00000122515	ENST00000414051	.	.	.	4.73	-9.45	0.00600	.	.	.	.	.	T	0.50888	0.1642	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.63444	-0.6636	5	0.54805	T	0.06	-10.7205	5.551	0.17091	0.0873:0.0977:0.2619:0.553	.	.	.	.	R	525	.	ENSP00000412848:P525R	P	+	2	0	ZMIZ2	44768011	0.000000	0.05858	0.461000	0.27105	0.987000	0.75469	-6.954000	0.00048	-2.243000	0.00707	-0.818000	0.03119	CCG		0.697	ZMIZ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341790.1	NM_031449		4	36	0	0	0	1	0	4	36					G	44801486	C	G	44801486	2	3	353	1	0	0	0	0	0	0	0	1	17694	639	23	5		5	ZMIZ2	7	44801486	Silent	SNP	C	TCGA-M7-A721-01A-12D-A32B-08		44801486	114337177	16	17737											
MUC17	140453	broad.mit.edu	37	chr7	100682744	100682744	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ctgctgaaggtagcagcatgCcaacctcaactcctggtgaa	11	8	10	12	0	1	2	1	2	0	0	2	2	2	2	3	2	6	4	3	2	5	1	rs71286275		TCGA-M7-A721-01A-12D-A32B-08	TCGA-M7-A721-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	292347c6-bf93-4cea-a220-25a1054e259c	aee1ef24-f3b6-446c-8ea1-d1d713c501db	g.chr7:100682744C>T	ENST00000306151.4	+	3	8111	c.8047C>T	c.(8047-8049)Cca>Tca	p.P2683S		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	2683	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)	p.P2683S(1)		NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					TAGCAGCATGCCAACCTCAAC	0.493																																						ENST00000306151.4																			1	Substitution - Missense(1)	p.P2683S(1)	urinary_tract(1)	NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343						c.(8047-8049)Cca>Tca		mucin 17, cell surface associated							225	230	228					7																	100682744		2203	4300	6503	SO:0001583	missense	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100682744C>T	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"Mucins"	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.8047C>T	7.37:g.100682744C>T	ENSP00000302716:p.Pro2683Ser						p.P2683S	NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN			3	8111	+	Lung NSC(181;0.136)|all_lung(186;0.182)		2683			59 X approximate tandem repeats.|Ser-rich.		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	c.8047C>T	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	C	4.606	0.112671	0.08831	.	.	ENSG00000169876	ENST00000306151	T	0.01854	4.6	0.911	-1.82	0.07857	.	.	.	.	.	T	0.01730	0.0055	N	0.04880	-0.145	0.09310	N	1	D	0.57571	0.98	P	0.59424	0.857	T	0.25745	-1.0123	9	0.08599	T	0.76	.	0.3885	0.00406	0.2439:0.3108:0.2431:0.2021	.	2683	Q685J3	MUC17_HUMAN	S	2683	ENSP00000302716:P2683S	ENSP00000302716:P2683S	P	+	1	0	MUC17	100469464	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-2.262000	0.01175	-0.688000	0.05155	0.134000	0.15878	CCA		0.493	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		6	351	0	0	0	1	0	6	351					T	100682744	C	T	100682744	3	4	353	1	0	0	0	0	1	0	0	0	9974	739	26	3	8057	3	MUC17	7	100682744	Missense_Mutation	SNP	C	TCGA-M7-A721-01A-12D-A32B-08	55881258	100682744	58455919	17	17738											
PROSC	11212	broad.mit.edu	37	chr8	37632949	37632949	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtttgtggggctgatgaccAtaggaagctttgggcatgat	9	12	15	5	0	0	3	0	3	0	0	0	4	0	4	1	4	1	4	1	4	2	3	rs553228499		TCGA-M7-A721-01A-12D-A32B-08	TCGA-M7-A721-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	292347c6-bf93-4cea-a220-25a1054e259c	aee1ef24-f3b6-446c-8ea1-d1d713c501db	g.chr8:37632949A>G	ENST00000328195.3	+	6	614	c.547A>G	c.(547-549)Ata>Gta	p.I183V		NM_007198.3	NP_009129.1	O94903	PROSC_HUMAN	proline synthetase co-transcribed homolog (bacterial)	183					alpha-amino acid metabolic process (GO:1901605)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|mitochondrion (GO:0005739)	pyridoxal phosphate binding (GO:0030170)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|prostate(1)	7		Lung NSC(58;0.174)	BRCA - Breast invasive adenocarcinoma(5;6.14e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)		L-Proline(DB00172)	GCTGATGACCATAGGAAGCTT	0.517													A|||	1	0.000199681	0	0	5008	,	,		19922	0.001		0	False		,,,				2504	0					ENST00000328195.3																			0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|prostate(1)	7						c.(547-549)Ata>Gta		proline synthetase co-transcribed homolog (bacterial)	L-Proline(DB00172)|Pyridoxal Phosphate(DB00114)						199	196	197					8																	37632949		2203	4300	6503	SO:0001583	missense	11212						pyridoxal phosphate binding	g.chr8:37632949A>G	AB018566	CCDS6096.1	8p11.2	2008-01-07	2001-12-04		ENSG00000147471	ENSG00000147471			9457	protein-coding gene	gene with protein product		604436	"proline synthetase co-transcribed (bacterial homolog)"				Standard	NM_007198		Approved		uc003xkh.3	O94903	OTTHUMG00000164024	ENST00000328195.3:c.547A>G	8.37:g.37632949A>G	ENSP00000333551:p.Ile183Val						p.I183V	NM_007198.3	NP_009129.1	O94903	PROSC_HUMAN	BRCA - Breast invasive adenocarcinoma(5;6.14e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)		6	614	+		Lung NSC(58;0.174)	183					Q6FI94	Missense_Mutation	SNP	ENST00000328195.3	37	c.547A>G	CCDS6096.1	.	.	.	.	.	.	.	.	.	.	A	31	5.072955	0.93950	.	.	ENSG00000147471	ENST00000328195;ENST00000523187;ENST00000523521	T;T;T	0.46451	0.87;0.87;0.87	5.8	5.8	0.92144	Alanine racemase, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.61565	0.2357	M	0.64404	1.975	0.80722	D	1	D	0.55385	0.971	D	0.65443	0.935	T	0.64433	-0.6409	10	0.87932	D	0	-2.1283	15.7907	0.78357	1.0:0.0:0.0:0.0	.	183	O94903	PROSC_HUMAN	V	183;131;112	ENSP00000333551:I183V;ENSP00000427886:I131V;ENSP00000429425:I112V	ENSP00000333551:I183V	I	+	1	0	PROSC	37752107	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.150000	0.94667	2.214000	0.71695	0.533000	0.62120	ATA		0.517	PROSC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376796.1	NM_007198		13	183	0	0	0	1	0	13	183					G	37632949	A	G	37632949	3	3	353	1	0	0	0	0	1	0	0	0	12559	217	8	4	569	4	PROSC	8	37632949	Missense_Mutation	SNP	A	TCGA-M7-A721-01A-12D-A32B-08		37632949	108731073	18	17739											
EFCAB1	79645	broad.mit.edu	37	chr8	49641689	49641689	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	agtctgcaaaagacagcttcCcatcatggtcatgatcctag	12	10	8	11	0	3	2	2	1	1	1	5	2	5	2	2	1	2	2	2	1	3	2			TCGA-M7-A721-01A-12D-A32B-08	TCGA-M7-A721-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	292347c6-bf93-4cea-a220-25a1054e259c	aee1ef24-f3b6-446c-8ea1-d1d713c501db	g.chr8:49641689C>G	ENST00000262103.3	-	5	568	c.488G>C	c.(487-489)gGg>gCg	p.G163A	EFCAB1_ENST00000433756.1_Missense_Mutation_p.G111A|EFCAB1_ENST00000521002.1_Intron|EFCAB1_ENST00000523092.1_Missense_Mutation_p.G111A	NM_024593.3	NP_078869.1	Q9HAE3	EFCB1_HUMAN	EF-hand calcium binding domain 1	163	EF-hand 3. {ECO:0000255|PROSITE- ProRule:PRU00448}.						calcium ion binding (GO:0005509)			endometrium(1)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|urinary_tract(2)	14		all_epithelial(80;0.0134)|Lung NSC(129;0.0207)|all_lung(136;0.0464)				AGACAGCTTCCCATCATGGTC	0.408																																						ENST00000433756.1																			0				endometrium(1)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|urinary_tract(2)	14						c.(331-333)gGg>gCg		EF-hand calcium binding domain 1							114	97	103					8																	49641689		2203	4300	6503	SO:0001583	missense	79645						calcium ion binding	g.chr8:49641689C>G		CCDS6145.1, CCDS47853.1	8q11.21	2013-01-10			ENSG00000034239	ENSG00000034239		"EF-hand domain containing"	25678	protein-coding gene	gene with protein product						12477932	Standard	NM_024593		Approved	FLJ11767	uc003xqo.2	Q9HAE3	OTTHUMG00000164203	ENST00000262103.3:c.488G>C	8.37:g.49641689C>G	ENSP00000262103:p.Gly163Ala					EFCAB1_ENST00000262103.3_Missense_Mutation_p.G163A|EFCAB1_ENST00000523092.1_Missense_Mutation_p.G111A|EFCAB1_ENST00000521002.1_Intron	p.G111A	NM_001142857.1	NP_001136329.1	Q9HAE3	EFCB1_HUMAN			4	491	-		all_epithelial(80;0.0134)|Lung NSC(129;0.0207)|all_lung(136;0.0464)	163			EF-hand 2.		B4DSB4|E7EVN7	Missense_Mutation	SNP	ENST00000262103.3	37	c.332G>C	CCDS6145.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	27.5|27.5	4.835805|4.835805	0.91117|0.91117	.|.	.|.	ENSG00000034239|ENSG00000034239	ENST00000433756;ENST00000262103;ENST00000450553;ENST00000523092|ENST00000523008;ENST00000522254	D;D;D|.	0.83914|.	-1.78;-1.78;-1.78|.	5.22|5.22	5.22|5.22	0.72569|0.72569	EF-hand-like domain (1);|.	0.043529|.	0.85682|.	D|.	0.000000|.	D|D	0.87908|0.87908	0.6296|0.6296	H|H	0.96916|0.96916	3.905|3.905	0.80722|0.80722	D|D	1|1	D;D|.	0.64830|.	0.994;0.994|.	P;D|.	0.66196|.	0.858;0.942|.	D|D	0.91542|0.91542	0.5250|0.5250	9|5	.|.	.|.	.|.	.|.	16.3211|16.3211	0.82951|0.82951	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	111;163|.	Q9HAE3-2;Q9HAE3|.	.;EFCB1_HUMAN|.	A|C	111;163;163;111|29;80	ENSP00000400873:G111A;ENSP00000262103:G163A;ENSP00000430765:G111A|.	.|.	G|W	-|-	2|3	0|0	EFCAB1|EFCAB1	49804242|49804242	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.945000|0.945000	0.59286|0.59286	7.352000|7.352000	0.79404|0.79404	2.710000|2.710000	0.92621|0.92621	0.555000|0.555000	0.69702|0.69702	GGG|TGG		0.408	EFCAB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377778.1	NM_024593		3	50	0	0	0	1	0	3	50					G	49641689	C	G	49641689	3	3	353	1	0	0	0	0	1	0	0	0	4933	623	22	5	155	5	EFCAB1	8	49641689	Missense_Mutation	SNP	C	TCGA-M7-A721-01A-12D-A32B-08	12008740	49641689	96722333	19	17740											
KIAA2026	158358	broad.mit.edu	37	chr9	5919991	5919991	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acttaattactgaagtcagtGatactgttggtacaggaggt	12	13	11	5	0	1	2	1	2	0	0	1	3	1	3	0	3	3	2	0	3	5	5			TCGA-M7-A721-01A-12D-A32B-08	TCGA-M7-A721-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	292347c6-bf93-4cea-a220-25a1054e259c	aee1ef24-f3b6-446c-8ea1-d1d713c501db	g.chr9:5919991G>C	ENST00000399933.3	-	8	6004	c.6005C>G	c.(6004-6006)tCa>tGa	p.S2002*	KIAA2026_ENST00000381461.2_Nonsense_Mutation_p.S1972*	NM_001017969.2	NP_001017969.2	Q5HYC2	K2026_HUMAN	KIAA2026	2002										breast(6)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(1)	46		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124)		TGAAGTCAGTGATACTGTTGG	0.433																																						ENST00000399933.3																			0				breast(6)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(1)	46						c.(6004-6006)tCa>tGa		KIAA2026							161	151	154					9																	5919991		1937	4141	6078	SO:0001587	stop_gained	158358							g.chr9:5919991G>C	AB095946		9p24.1	2014-01-10			ENSG00000183354	ENSG00000183354			23378	protein-coding gene	gene with protein product							Standard	NM_001017969		Approved	FLJ20375	uc003zjq.4	Q5HYC2	OTTHUMG00000019507	ENST00000399933.3:c.6005C>G	9.37:g.5919991G>C	ENSP00000382815:p.Ser2002*					KIAA2026_ENST00000381461.2_Nonsense_Mutation_p.S1972*	p.S2002*	NM_001017969.2	NP_001017969.2	Q5HYC2	K2026_HUMAN		GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124)	8	6004	-		Acute lymphoblastic leukemia(23;0.158)	2002					A8MTP2|B9EGW7|Q4VXA2|Q8IVE5	Nonsense_Mutation	SNP	ENST00000399933.3	37	c.6005C>G		.	.	.	.	.	.	.	.	.	.	G	39	7.641862	0.98406	.	.	ENSG00000183354	ENST00000399933;ENST00000381461	.	.	.	5.69	5.69	0.88448	.	0.579070	0.15121	N	0.279377	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.40728	T	0.16	-0.5874	14.0206	0.64553	0.0719:0.0:0.9281:0.0	.	.	.	.	X	2002;1972	.	ENSP00000370870:S1972X	S	-	2	0	KIAA2026	5909991	0.182000	0.23173	0.009000	0.14445	0.049000	0.14656	3.229000	0.51278	2.690000	0.91761	0.655000	0.94253	TCA		0.433	KIAA2026-002	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000051652.2	NM_001017969		7	103	0	0	0	1	0	7	103					C	5919991	G	C	5919991	4	2	353	1	0	0	0	0	0	1	0	0	8270	1294	45	5	310	5	KIAA2026	9	5919991	Nonsense_Mutation	SNP	G	TCGA-M7-A721-01A-12D-A32B-08		5919991	135293440	20	17741											
BNC2	54796	broad.mit.edu	37	chr9	16419335	16419335	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcgagaagaatcccctcatcGctgcctgcgtcggattctct	7	11	9	14	4	2	2	1	0	1	2	7	4	3	3	3	1	2	1	3	1	2	1	rs368842595		TCGA-M7-A721-01A-12D-A32B-08	TCGA-M7-A721-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	292347c6-bf93-4cea-a220-25a1054e259c	aee1ef24-f3b6-446c-8ea1-d1d713c501db	g.chr9:16419335G>A	ENST00000380672.4	-	7	3009	c.2952C>T	c.(2950-2952)agC>agT	p.S984S	BNC2_ENST00000380667.2_Silent_p.S917S|BNC2_ENST00000545497.1_Silent_p.S889S	NM_017637.5	NP_060107.3			basonuclin 2											NS(2)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(16)|liver(1)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(50;9.01e-08)		TCCCCTCATCGCTGCCTGCGT	0.617																																						ENST00000380672.4																			0				NS(2)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(16)|liver(1)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	60						c.(2950-2952)agC>agT		basonuclin 2		G		1,4405	2.1+/-5.4	0,1,2202	91	87	88		2952	-6.4	0.6	9		88	0,8600		0,0,4300	no	coding-synonymous	BNC2	NM_017637.5		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		984/1100	16419335	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	54796				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	zinc ion binding	g.chr9:16419335G>A	AK092247	CCDS6482.2	9p22.2	2013-05-20			ENSG00000173068	ENSG00000173068		"Zinc fingers, C2H2-type"	30988	protein-coding gene	gene with protein product		608669				14702039	Standard	XM_006716784		Approved	BSN2, FLJ20043	uc003zml.3	Q6ZN30	OTTHUMG00000019593	ENST00000380672.4:c.2952C>T	9.37:g.16419335G>A						BNC2_ENST00000545497.1_Silent_p.S889S|BNC2_ENST00000380667.2_Silent_p.S917S	p.S984S	NM_017637.5	NP_060107.3	Q6ZN30	BNC2_HUMAN		GBM - Glioblastoma multiforme(50;9.01e-08)	7	3009	-			984						Silent	SNP	ENST00000380672.4	37	c.2952C>T	CCDS6482.2																																																																																				0.617	BNC2-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000216901.5	NM_017637		7	32	0	0	0	1	0	7	32					A	16419335	G	A	16419335	2	1	353	1	0	0	0	0	0	0	0	1	1475	1078	38	1		1	BNC2	9	16419335	Silent	SNP	G	TCGA-M7-A721-01A-12D-A32B-08	10499344	16419335	124794096	21	17742											
ASTN2	23245	broad.mit.edu	37	chr9	119202943	119202943	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcgccaaacttttcatagtGagagttgtagtggtgctgga	9	13	13	6	1	1	1	1	1	0	1	2	3	1	2	1	2	2	3	1	2	3	5			TCGA-M7-A721-01A-12D-A32B-08	TCGA-M7-A721-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	292347c6-bf93-4cea-a220-25a1054e259c	aee1ef24-f3b6-446c-8ea1-d1d713c501db	g.chr9:119202943G>T	ENST00000313400.4	-	22	3827	c.3727C>A	c.(3727-3729)Cac>Aac	p.H1243N	ASTN2_ENST00000288520.5_Missense_Mutation_p.H344N|ASTN2_ENST00000341734.4_Missense_Mutation_p.H295N|ASTN2_ENST00000361209.2_Missense_Mutation_p.H1192N|ASTN2_ENST00000361477.3_Missense_Mutation_p.H295N|ASTN2_ENST00000373996.3_Missense_Mutation_p.H1239N			O75129	ASTN2_HUMAN	astrotactin 2	1243					negative regulation of protein localization to cell surface (GO:2000009)	cell pole (GO:0060187)|endosome (GO:0005768)|integral component of membrane (GO:0016021)				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						TTTTCATAGTGAGAGTTGTAG	0.512																																						ENST00000313400.4																			0				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						c.(3727-3729)Cac>Aac		astrotactin 2							140	117	125					9																	119202943		2203	4300	6503	SO:0001583	missense	23245					integral to membrane		g.chr9:119202943G>T	AF116574	CCDS6814.1, CCDS6815.1, CCDS48009.1, CCDS48009.2, CCDS55334.1	9q33	2008-02-05			ENSG00000148219	ENSG00000148219			17021	protein-coding gene	gene with protein product		612856				9734811	Standard	NM_014010		Approved	KIAA0634	uc004bjt.2	O75129	OTTHUMG00000021013	ENST00000313400.4:c.3727C>A	9.37:g.119202943G>T	ENSP00000314038:p.His1243Asn					ASTN2_ENST00000288520.5_Missense_Mutation_p.H344N|ASTN2_ENST00000361477.3_Missense_Mutation_p.H295N|ASTN2_ENST00000361209.2_Missense_Mutation_p.H1192N|ASTN2_ENST00000341734.4_Missense_Mutation_p.H295N|ASTN2_ENST00000373996.3_Missense_Mutation_p.H1239N	p.H1243N			O75129	ASTN2_HUMAN			22	3827	-			1243					A2A2T7|A2A2T9|Q52LQ2|Q5JVX8|Q5JVX9|Q5JVY1|Q5VXG8|Q5VZX6|Q8N6P8|Q8WV47|Q96FL4|Q9UHW6	Missense_Mutation	SNP	ENST00000313400.4	37	c.3727C>A		.	.	.	.	.	.	.	.	.	.	G	22.1	4.250207	0.80024	.	.	ENSG00000148219	ENST00000313400;ENST00000373996;ENST00000288520;ENST00000341734;ENST00000373986;ENST00000361209;ENST00000361477	T;T;T;T;T;T;T	0.15718	2.83;2.82;2.4;2.41;2.64;2.84;2.41	5.91	5.91	0.95273	.	0.103590	0.64402	D	0.000003	T	0.28134	0.0694	L	0.27053	0.805	0.51482	D	0.99992	P;P;P;P;P;P;P	0.52316	0.807;0.886;0.952;0.92;0.935;0.886;0.886	B;P;P;B;P;P;P	0.56434	0.278;0.461;0.558;0.355;0.798;0.461;0.461	T	0.00888	-1.1526	10	0.87932	D	0	-30.0819	20.2985	0.98592	0.0:0.0:1.0:0.0	.	295;295;1192;1243;1239;295;344	B7ZKP4;B7ZKP5;O75129-2;O75129;O75129-3;O75129-6;O75129-4	.;.;.;ASTN2_HUMAN;.;.;.	N	1243;1239;344;295;966;1192;295	ENSP00000314038:H1243N;ENSP00000363108:H1239N;ENSP00000288520:H344N;ENSP00000339925:H295N;ENSP00000363098:H966N;ENSP00000354504:H1192N;ENSP00000355116:H295N	ENSP00000288520:H344N	H	-	1	0	ASTN2	118242764	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	9.765000	0.98953	2.793000	0.96121	0.655000	0.94253	CAC		0.512	ASTN2-201	KNOWN	basic	protein_coding	protein_coding		NM_014010		7	57	1	0	5.18039e-06	1	5.87775e-06	7	57					T	119202943	G	T	119202943	3	4	353	1	0	0	0	0	1	0	0	0	1065	1290	45	5	341	5	ASTN2	9	119202943	Missense_Mutation	SNP	G	TCGA-M7-A721-01A-12D-A32B-08	102783608	119202943	22010488	22	17743											
CRAT	1384	broad.mit.edu	37	chr9	131860406	131860406	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agggaggcactttcataggtGgcacatgcctgtccgtagat	9	10	13	9	1	1	1	1	0	0	1	2	2	2	2	2	4	1	3	2	4	2	3			TCGA-M7-A721-01A-12D-A32B-08	TCGA-M7-A721-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	292347c6-bf93-4cea-a220-25a1054e259c	aee1ef24-f3b6-446c-8ea1-d1d713c501db	g.chr9:131860406G>A	ENST00000318080.2	-	11	1644	c.1350C>T	c.(1348-1350)gcC>gcT	p.A450A	RP11-247A12.1_ENST00000434250.1_RNA	NM_000755.3|NM_001257363.1	NP_000746|NP_001244292.1	P43155	CACP_HUMAN	carnitine O-acetyltransferase	450					carnitine metabolic process, CoA-linked (GO:0019254)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	endoplasmic reticulum (GO:0005783)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	carnitine O-acetyltransferase activity (GO:0004092)|receptor binding (GO:0005102)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(4)|skin(1)|urinary_tract(2)	13				UCEC - Uterine corpus endometrioid carcinoma (4;0.0178)	L-Carnitine(DB00583)	TTTCATAGGTGGCACATGCCT	0.627																																						ENST00000318080.2																			0				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(4)|skin(1)|urinary_tract(2)	13						c.(1348-1350)gcC>gcT		carnitine O-acetyltransferase	L-Carnitine(DB00583)						133	130	131					9																	131860406		2203	4300	6503	SO:0001819	synonymous_variant	1384				energy derivation by oxidation of organic compounds|fatty acid beta-oxidation using acyl-CoA oxidase|transport	endoplasmic reticulum|mitochondrial inner membrane|peroxisomal matrix	carnitine O-acetyltransferase activity	g.chr9:131860406G>A	X78706	CCDS6919.1	9q34.1	2010-04-27	2010-04-27		ENSG00000095321	ENSG00000095321	2.3.1.7		2342	protein-coding gene	gene with protein product		600184	"carnitine acetyltransferase"			7829107	Standard	NM_000755		Approved	CAT1	uc004bxh.3	P43155	OTTHUMG00000147343	ENST00000318080.2:c.1350C>T	9.37:g.131860406G>A						RP11-247A12.1_ENST00000434250.1_RNA	p.A450A	NM_000755.3|NM_001257363.1	NP_000746.2|NP_001244292.1	P43155	CACP_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;0.0178)	11	1644	-			450					Q5T952|Q9BW16	Silent	SNP	ENST00000318080.2	37	c.1350C>T	CCDS6919.1	.	.	.	.	.	.	.	.	.	.	G	10.58	1.390676	0.25118	.	.	ENSG00000095321	ENST00000455396	.	.	.	5.65	4.76	0.60689	.	.	.	.	.	T	0.69824	0.3154	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.68926	-0.5280	4	.	.	.	-37.7285	13.9758	0.64273	0.0731:0.0:0.9269:0.0	.	.	.	.	Y	49	.	.	H	-	1	0	CRAT	130900227	1.000000	0.71417	1.000000	0.80357	0.813000	0.45954	3.939000	0.56591	1.391000	0.46566	0.561000	0.74099	CAC		0.627	CRAT-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253700.1			7	139	0	0	0	1	0	7	139					A	131860406	G	A	131860406	2	1	353	1	0	0	0	0	0	0	0	1	3847	1335	47	3		3	CRAT	9	131860406	Silent	SNP	G	TCGA-M7-A721-01A-12D-A32B-08	12657463	131860406	9353025	23	17744											
OR9G1	390174	broad.mit.edu	37	chr11	56468369	56468369	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttttcctttaacttctgccGtgaaaacatcattgatgact	10	16	6	9	1	2	3	1	3	1	0	3	3	3	3	2	0	3	1	2	0	3	6	rs202014060		TCGA-M7-A721-01A-12D-A32B-08	TCGA-M7-A721-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	292347c6-bf93-4cea-a220-25a1054e259c	aee1ef24-f3b6-446c-8ea1-d1d713c501db	g.chr11:56468369G>A	ENST00000312153.1	+	1	506	c.506G>A	c.(505-507)cGt>cAt	p.R169H		NM_001005213.1	NP_001005213.1	Q8NH87	OR9G1_HUMAN	olfactory receptor, family 9, subfamily G, member 1	169			R -> C (in dbSNP:rs11228733).			integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R169L(2)		breast(2)|kidney(1)|lung(25)|stomach(2)|upper_aerodigestive_tract(1)	31						AACTTCTGCCGTGAAAACATC	0.428													G|||	1	0.000199681	0	0	5008	,	,		22216	0		0.001	False		,,,				2504	0					ENST00000312153.1																			2	Substitution - Missense(2)	p.R169L(2)	lung(2)	breast(2)|kidney(1)|lung(25)|stomach(2)|upper_aerodigestive_tract(1)	31						c.(505-507)cGt>cAt		olfactory receptor, family 9, subfamily G, member 1		G	HIS/ARG	1,4401	2.1+/-5.4	0,1,2200	149	146	147		506	-2.9	0	11		147	1,8591	1.2+/-3.3	0,1,4295	no	missense	OR9G1	NM_001005213.1	29	0,2,6495	AA,AG,GG		0.0116,0.0227,0.0154	benign	169/306	56468369	2,12992	2201	4296	6497	SO:0001583	missense	390174							g.chr11:56468369G>A	AB065500	CCDS31536.1	11q11	2012-08-09			ENSG00000174914	ENSG00000174914		"GPCR / Class A : Olfactory receptors"	15319	protein-coding gene	gene with protein product				OR9G5			Standard	NM_001005213		Approved			Q8NH87	OTTHUMG00000167112	ENST00000312153.1:c.506G>A	11.37:g.56468369G>A	ENSP00000309012:p.Arg169His						p.R169H	NM_001005213.1	NP_001005213.1					1	506	+								Q6IEU9|Q8NGQ0	Missense_Mutation	SNP	ENST00000312153.1	37	c.506G>A	CCDS31536.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	4.528	0.098070	0.08681	2.27E-4	1.16E-4	ENSG00000174914	ENST00000312153	T	0.37411	1.2	4.52	-2.91	0.05631	GPCR, rhodopsin-like superfamily (1);	1.857160	0.02459	N	0.086381	T	0.29524	0.0736	N	0.26092	0.79	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.30268	-0.9984	10	0.31617	T	0.26	0.8926	14.9069	0.70727	0.2659:0.0:0.7341:0.0	.	169	Q8NH87	OR9G1_HUMAN	H	169	ENSP00000309012:R169H	ENSP00000309012:R169H	R	+	2	0	OR9G1	56224945	0.000000	0.05858	0.000000	0.03702	0.087000	0.18053	-0.570000	0.05895	-0.778000	0.04566	-1.341000	0.01249	CGT		0.428	OR9G1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393253.1	NM_001005213		11	122	0	0	0	1	0	11	122					A	56468369	G	A	56468369	3	1	353	1	0	0	0	0	1	0	0	0	11250	1145	40	1	508	1	OR9G1	11	56468369	Missense_Mutation	SNP	G	TCGA-M7-A721-01A-12D-A32B-08		56468369	78538147	24	17745											
DDX6	1656	broad.mit.edu	37	chr11	118636057	118636057	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttctctagtgggaacaatcAccattgctgaaacagtatca	13	11	8	9	0	3	1	2	1	1	0	4	2	3	2	1	1	3	3	1	1	5	4			TCGA-M7-A721-01A-12D-A32B-08	TCGA-M7-A721-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	292347c6-bf93-4cea-a220-25a1054e259c	aee1ef24-f3b6-446c-8ea1-d1d713c501db	g.chr11:118636057A>C	ENST00000526070.2	-	6	866	c.506T>G	c.(505-507)gTg>gGg	p.V169G	DDX6_ENST00000534980.1_Missense_Mutation_p.V169G|DDX6_ENST00000264018.4_Missense_Mutation_p.V169G	NM_001257191.1	NP_001244120.1	P26196	DDX6_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 6	169	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				cytoplasmic mRNA processing body assembly (GO:0033962)|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|RISC complex (GO:0016442)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724)			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(1)|ovary(1)|prostate(1)	13	all_hematologic(175;0.0839)	Renal(330;0.0183)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)|Hepatocellular(160;0.0893)|Breast(348;0.0979)|all_hematologic(192;0.103)		OV - Ovarian serous cystadenocarcinoma(223;3.39e-06)|BRCA - Breast invasive adenocarcinoma(274;3.4e-05)|Colorectal(284;0.0377)		GGGAACAATCACCATTGCTGA	0.408			T	IGH@	B-NHL																																	ENST00000264018.4				Dom	yes		11	11q23.3	1656	T	DEAD (Asp-Glu-Ala-Asp) box polypeptide 6			L	IGH@		B-NHL		0				NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(1)|ovary(1)|prostate(1)	13						c.(505-507)gTg>gGg		DEAD (Asp-Glu-Ala-Asp) box helicase 6							190	182	185					11																	118636057		1883	4113	5996	SO:0001583	missense	1656				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	cytoplasmic mRNA processing body|cytosol|RNA-induced silencing complex|stress granule	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding|RNA helicase activity	g.chr11:118636057A>C	D17532	CCDS44751.1	11q23.3	2012-02-23	2012-02-23		ENSG00000110367	ENSG00000110367		"DEAD-boxes"	2747	protein-coding gene	gene with protein product		600326	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 6 (RNA helicase, 54kD)", "DEAD (Asp-Glu-Ala-Asp) box polypeptide 6"	HLR2		1579499, 11839790	Standard	NM_004397		Approved	RCK	uc001pub.2	P26196	OTTHUMG00000166411	ENST00000526070.2:c.506T>G	11.37:g.118636057A>C	ENSP00000433704:p.Val169Gly					DDX6_ENST00000534980.1_Missense_Mutation_p.V169G|DDX6_ENST00000526070.2_Missense_Mutation_p.V169G	p.V169G	NM_004397.4	NP_004388.2	P26196	DDX6_HUMAN		OV - Ovarian serous cystadenocarcinoma(223;3.39e-06)|BRCA - Breast invasive adenocarcinoma(274;3.4e-05)|Colorectal(284;0.0377)	6	811	-	all_hematologic(175;0.0839)	Renal(330;0.0183)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)|Hepatocellular(160;0.0893)|Breast(348;0.0979)|all_hematologic(192;0.103)	169			Helicase ATP-binding.		Q5D048	Missense_Mutation	SNP	ENST00000526070.2	37	c.506T>G	CCDS44751.1	.	.	.	.	.	.	.	.	.	.	A	21.4	4.145370	0.77888	.	.	ENSG00000110367	ENST00000264018;ENST00000545741;ENST00000534980;ENST00000526070	T;T;T	0.07688	3.17;3.17;3.17	5.74	5.74	0.90152	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.051746	0.85682	D	0.000000	T	0.36690	0.0976	M	0.93150	3.385	0.80722	D	1	D	0.62365	0.991	P	0.61132	0.884	T	0.51076	-0.8751	10	0.87932	D	0	.	15.7053	0.77573	1.0:0.0:0.0:0.0	.	169	P26196	DDX6_HUMAN	G	169	ENSP00000264018:V169G;ENSP00000442266:V169G;ENSP00000433704:V169G	ENSP00000264018:V169G	V	-	2	0	DDX6	118141267	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.667000	0.54547	2.180000	0.69256	0.528000	0.53228	GTG		0.408	DDX6-002	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000389647.2	NM_004397		27	142	0	0	0	1	0	27	142					C	118636057	A	C	118636057	3	2	353	1	0	0	0	0	1	0	0	0	4377	159	6	5	977	5	DDX6	11	118636057	Missense_Mutation	SNP	A	TCGA-M7-A721-01A-12D-A32B-08	62167688	118636057	16370459	25	17746											
FREM2	341640	broad.mit.edu	37	chr13	39265100	39265100	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tgatggaaggcatgagtctgGtaattgatacacccattctc	11	12	10	8	0	2	3	0	3	2	0	3	4	2	4	1	3	1	2	1	3	3	4			TCGA-M7-A721-01A-12D-A32B-08	TCGA-M7-A721-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	292347c6-bf93-4cea-a220-25a1054e259c	aee1ef24-f3b6-446c-8ea1-d1d713c501db	g.chr13:39265100G>C	ENST00000280481.7	+	1	3835	c.3619G>C	c.(3619-3621)Gta>Cta	p.V1207L		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	1207					cell communication (GO:0007154)|homophilic cell adhesion (GO:0007156)|inner ear development (GO:0048839)|morphogenesis of an epithelium (GO:0002009)	basement membrane (GO:0005604)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		CATGAGTCTGGTAATTGATAC	0.418																																						ENST00000280481.7																			0				NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148						c.(3619-3621)Gta>Cta		FRAS1 related extracellular matrix protein 2							275	260	265					13																	39265100		2203	4300	6503	SO:0001583	missense	341640				cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr13:39265100G>C	BX538150	CCDS31960.1	13q13.3	2004-12-15			ENSG00000150893	ENSG00000150893			25396	protein-coding gene	gene with protein product		608945				15345741	Standard	NM_207361		Approved	DKFZp686J0811	uc001uwv.3	Q5SZK8	OTTHUMG00000016759	ENST00000280481.7:c.3619G>C	13.37:g.39265100G>C	ENSP00000280481:p.Val1207Leu						p.V1207L	NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)	1	3835	+		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)	1207					Q4QQG1|Q5H9N8|Q5T6Q1|Q6N057|Q6ZSB4|Q7Z305|Q7Z341	Missense_Mutation	SNP	ENST00000280481.7	37	c.3619G>C	CCDS31960.1	.	.	.	.	.	.	.	.	.	.	G	10.19	1.283281	0.23392	.	.	ENSG00000150893	ENST00000280481	T	0.36520	1.25	6.08	5.23	0.72850	.	0.057572	0.64402	N	0.000002	T	0.36441	0.0967	L	0.53671	1.685	0.80722	D	1	P	0.45078	0.85	B	0.38921	0.285	T	0.20140	-1.0284	10	0.42905	T	0.14	.	17.4587	0.87614	0.0:0.1243:0.8757:0.0	.	1207	Q5SZK8	FREM2_HUMAN	L	1207	ENSP00000280481:V1207L	ENSP00000280481:V1207L	V	+	1	0	FREM2	38163100	1.000000	0.71417	0.994000	0.49952	0.366000	0.29705	4.939000	0.63526	1.567000	0.49668	-0.176000	0.13171	GTA		0.418	FREM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044599.2	NM_207361		46	293	0	0	0	1	0	46	293					C	39265100	G	C	39265100	3	2	353	1	0	0	0	0	1	0	0	0	6045	1261	44	5	3621	5	FREM2	13	39265100	Missense_Mutation	SNP	G	TCGA-M7-A721-01A-12D-A32B-08		39265100	75904778	26	17747											
MYH6	4624	broad.mit.edu	37	chr14	23858667	23858667	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggtataagagagcttcccccGggtcagctgcgagattagcg	9	8	14	10	3	1	2	1	0	0	2	2	4	2	2	2	2	4	3	2	2	3	4			TCGA-M7-A721-01A-12D-A32B-08	TCGA-M7-A721-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	292347c6-bf93-4cea-a220-25a1054e259c	aee1ef24-f3b6-446c-8ea1-d1d713c501db	g.chr14:23858667G>A	ENST00000356287.3	-	27	3942	c.3913C>T	c.(3913-3915)Cgg>Tgg	p.R1305W	MYH6_ENST00000405093.3_Missense_Mutation_p.R1305W|MIR208A_ENST00000362287.1_RNA			P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	1305					adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|atrial cardiac muscle tissue morphogenesis (GO:0055009)|BMP signaling pathway (GO:0030509)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle fiber development (GO:0048739)|in utero embryonic development (GO:0001701)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|myofibril assembly (GO:0030239)|regulation of ATPase activity (GO:0043462)|regulation of blood pressure (GO:0008217)|regulation of heart contraction (GO:0008016)|regulation of heart growth (GO:0060420)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|sarcomere organization (GO:0045214)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visceral muscle development (GO:0007522)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin complex (GO:0016459)|myosin filament (GO:0032982)|nucleus (GO:0005634)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|protein kinase binding (GO:0019901)			breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		AGCTTCCCCCGGGTCAGCTGC	0.592																																						ENST00000405093.3																			0				breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119						c.(3913-3915)Cgg>Tgg		myosin, heavy chain 6, cardiac muscle, alpha							72	70	71					14																	23858667		2203	4300	6503	SO:0001583	missense	4624				adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle	g.chr14:23858667G>A	D00943	CCDS9600.1	14q11.2-q13	2014-09-17	2008-08-01		ENSG00000197616	ENSG00000197616		"Myosins / Myosin superfamily : Class II"	7576	protein-coding gene	gene with protein product	"cardiomyopathy, hypertrophic 1"	160710	"myosin, heavy polypeptide 6, cardiac muscle, alpha (cardiomyopathy, hypertrophic 1)"			2144212	Standard	NM_002471		Approved		uc001wjv.3	P13533	OTTHUMG00000028753	ENST00000356287.3:c.3913C>T	14.37:g.23858667G>A	ENSP00000348634:p.Arg1305Trp					MYH6_ENST00000356287.3_Missense_Mutation_p.R1305W	p.R1305W	NM_002471.3	NP_002462.2	P13533	MYH6_HUMAN		GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)	28	3983	-	all_cancers(95;2.54e-05)		1305					A2RTX1|D9YZU2|Q13943|Q14906|Q14907	Missense_Mutation	SNP	ENST00000356287.3	37	c.3913C>T	CCDS9600.1	.	.	.	.	.	.	.	.	.	.	g	18.59	3.657397	0.67586	.	.	ENSG00000197616	ENST00000405093;ENST00000356287	T;T	0.80123	-1.34;-1.34	4.63	3.67	0.42095	Myosin tail (1);	.	.	.	.	D	0.92348	0.7572	H	0.95884	3.735	0.50813	D	0.999898	D	0.89917	1.0	D	0.97110	1.0	D	0.94343	0.7572	9	0.87932	D	0	.	13.8964	0.63775	0.0:0.0:0.7431:0.2568	.	1305	P13533	MYH6_HUMAN	W	1305	ENSP00000386041:R1305W;ENSP00000348634:R1305W	ENSP00000348634:R1305W	R	-	1	2	MYH6	22928507	0.777000	0.28628	1.000000	0.80357	0.992000	0.81027	0.999000	0.29757	2.280000	0.76307	0.655000	0.94253	CGG		0.592	MYH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071796.3			18	50	0	0	0	1	0	18	50					A	23858667	G	A	23858667	3	1	353	1	0	0	0	0	1	0	0	0	10038	1115	39	2	1954	2	MYH6	14	23858667	Missense_Mutation	SNP	G	TCGA-M7-A721-01A-12D-A32B-08		23858667	83490873	27	17748											
ARHGAP5	394	broad.mit.edu	37	chr14	32560879	32560879	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggaacatataagaaaaaggaGagaagagtatataaatactt	22	8	9	2	0	0	3	0	0	0	3	0	6	0	5	0	2	2	1	0	2	11	7			TCGA-M7-A721-01A-12D-A32B-08	TCGA-M7-A721-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	292347c6-bf93-4cea-a220-25a1054e259c	aee1ef24-f3b6-446c-8ea1-d1d713c501db	g.chr14:32560879G>A	ENST00000345122.3	+	2	1319	c.1004G>A	c.(1003-1005)aGa>aAa	p.R335K	ARHGAP5_ENST00000433497.1_Intron|ARHGAP5_ENST00000396582.2_Intron|ARHGAP5_ENST00000539826.2_Missense_Mutation_p.R335K|ARHGAP5_ENST00000556611.1_Missense_Mutation_p.R335K|ARHGAP5_ENST00000432921.1_Missense_Mutation_p.R335K	NM_001030055.1	NP_001025226.1	Q13017	RHG05_HUMAN	Rho GTPase activating protein 5	335					cell adhesion (GO:0007155)|GTP catabolic process (GO:0006184)|mammary gland development (GO:0030879)|positive regulation of cell migration (GO:0030335)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell size (GO:0008361)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|Rho GTPase activator activity (GO:0005100)|SH2 domain binding (GO:0042169)			NS(2)|breast(10)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(12)|ovary(4)|skin(1)|stomach(1)|urinary_tract(4)	55	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00566)		AGAAAAAGGAGAGAAGAGTAT	0.313																																					NSCLC(9;77 350 3443 29227 41353)	ENST00000345122.3																			0				NS(2)|breast(10)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(12)|ovary(4)|skin(1)|stomach(1)|urinary_tract(4)	55						c.(1003-1005)aGa>aAa		Rho GTPase activating protein 5							66	71	70					14																	32560879		2197	4286	6483	SO:0001583	missense	394				cell adhesion|Rho protein signal transduction	cytosol|membrane	GTP binding|GTPase activity|Rho GTPase activator activity|SH2 domain binding	g.chr14:32560879G>A	U17032	CCDS32062.1, CCDS45095.1	14q12	2010-02-05						"Rho GTPase activating proteins"	675	protein-coding gene	gene with protein product		602680	"growth factor independent 2"	GFI2		8537347	Standard	XM_005267635		Approved	RhoGAP5, p190-B, p190BRhoGAP	uc001wrn.3	Q13017		ENST00000345122.3:c.1004G>A	14.37:g.32560879G>A	ENSP00000371897:p.Arg335Lys					ARHGAP5_ENST00000396582.2_Intron|ARHGAP5_ENST00000539826.2_Missense_Mutation_p.R335K|ARHGAP5_ENST00000556611.1_Missense_Mutation_p.R335K|ARHGAP5_ENST00000433497.1_Intron|ARHGAP5_ENST00000432921.1_Missense_Mutation_p.R335K	p.R335K	NM_001030055.1	NP_001025226.1	Q13017	RHG05_HUMAN	LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00566)	2	1319	+	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186)		335					A1L375|A1L376|A8KAA1|D3DS89|D3DS90|Q05BE8|Q05BU8|Q59ER0|Q6DHZ3	Missense_Mutation	SNP	ENST00000345122.3	37	c.1004G>A	CCDS32062.1	.	.	.	.	.	.	.	.	.	.	G	0.746	-0.774502	0.02951	.	.	ENSG00000100852	ENST00000556611;ENST00000539826;ENST00000345122;ENST00000432921	T;T;T;T	0.09073	3.02;3.02;3.02;3.02	5.64	3.8	0.43715	.	0.047083	0.85682	D	0.000000	T	0.07052	0.0179	L	0.33485	1.01	0.38686	D	0.952646	B;B	0.09022	0.002;0.001	B;B	0.17722	0.019;0.008	T	0.22591	-1.0212	10	0.34782	T	0.22	.	9.275	0.37694	0.2896:0.0:0.7104:0.0	.	335;335	Q13017-2;Q13017	.;RHG05_HUMAN	K	335	ENSP00000452222:R335K;ENSP00000441692:R335K;ENSP00000371897:R335K;ENSP00000393307:R335K	ENSP00000371897:R335K	R	+	2	0	ARHGAP5	31630630	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.985000	0.63845	1.380000	0.46344	0.563000	0.77884	AGA		0.313	ARHGAP5-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000409735.1	NM_001030055		11	88	0	0	0	1	0	11	88					A	32560879	G	A	32560879	3	1	353	1	0	0	0	0	1	0	0	0	886	942	33	3	1006	3	ARHGAP5	14	32560879	Missense_Mutation	SNP	G	TCGA-M7-A721-01A-12D-A32B-08	8702212	32560879	74788661	28	17749											
SPTB	6710	broad.mit.edu	37	chr14	65270402	65270402	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacaatgtcgtgggagcccaTgttctccaggtgtacacgct	8	11	11	11	2	1	0	0	0	1	0	3	1	1	1	2	2	3	3	2	2	3	3			TCGA-M7-A721-01A-12D-A32B-08	TCGA-M7-A721-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	292347c6-bf93-4cea-a220-25a1054e259c	aee1ef24-f3b6-446c-8ea1-d1d713c501db	g.chr14:65270402T>A	ENST00000389721.5	-	3	429	c.397A>T	c.(397-399)Atg>Ttg	p.M133L	SPTB_ENST00000542895.1_Missense_Mutation_p.M133L|SPTB_ENST00000556626.1_Missense_Mutation_p.M133L|SPTB_ENST00000389720.3_Missense_Mutation_p.M133L|SPTB_ENST00000389722.3_Missense_Mutation_p.M133L	NM_000347.5	NP_000338.3	P11277	SPTB1_HUMAN	spectrin, beta, erythrocytic	133	Actin-binding.|CH 1. {ECO:0000255|PROSITE- ProRule:PRU00044}.				actin filament capping (GO:0051693)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)	actin cytoskeleton (GO:0015629)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|protein complex (GO:0043234)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ankyrin binding (GO:0030506)|structural constituent of cytoskeleton (GO:0005200)			breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		TGGGAGCCCATGTTCTCCAGG	0.597																																						ENST00000389722.3																			0				breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106						c.(397-399)Atg>Ttg		spectrin, beta, erythrocytic							116	100	105					14																	65270402		2203	4300	6503	SO:0001583	missense	6710				actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton	g.chr14:65270402T>A		CCDS32099.1, CCDS32100.1	14q24.1-q24.2	2013-01-10	2008-07-29			ENSG00000070182		"Pleckstrin homology (PH) domain containing"	11274	protein-coding gene	gene with protein product	"spherocytosis, clinical type I"	182870				2209094	Standard	NM_001024858		Approved		uc001xhr.3	P11277		ENST00000389721.5:c.397A>T	14.37:g.65270402T>A	ENSP00000374371:p.Met133Leu					SPTB_ENST00000542895.1_Missense_Mutation_p.M133L|SPTB_ENST00000389720.3_Missense_Mutation_p.M133L|SPTB_ENST00000389721.5_Missense_Mutation_p.M133L|SPTB_ENST00000556626.1_Missense_Mutation_p.M133L	p.M133L	NM_001024858.2	NP_001020029.1	P11277	SPTB1_HUMAN		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)	3	450	-		all_lung(585;4.15e-09)	133			Actin-binding.|CH 1.		Q15510|Q15519	Missense_Mutation	SNP	ENST00000389721.5	37	c.397A>T	CCDS32100.1	.	.	.	.	.	.	.	.	.	.	T	18.26	3.584426	0.65992	.	.	ENSG00000070182	ENST00000389723;ENST00000389722;ENST00000556626;ENST00000389721;ENST00000542895;ENST00000389720	T;T;T;T;T	0.55413	0.52;0.52;0.52;0.52;0.52	5.21	5.21	0.72293	Actinin-type, actin-binding, conserved site (1);Calponin homology domain (5);	0.000000	0.85682	D	0.000000	T	0.32406	0.0828	N	0.02697	-0.525	0.58432	D	0.999998	B;B	0.31581	0.201;0.329	B;B	0.35688	0.196;0.208	T	0.34378	-0.9831	10	0.39692	T	0.17	.	14.371	0.66840	0.0:0.0:0.0:1.0	.	133;137	P11277;Q59FP5	SPTB1_HUMAN;.	L	137;133;133;133;133;133	ENSP00000374372:M133L;ENSP00000451752:M133L;ENSP00000374371:M133L;ENSP00000443882:M133L;ENSP00000374370:M133L	ENSP00000374370:M133L	M	-	1	0	SPTB	64340155	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.997000	0.88414	2.098000	0.63641	0.460000	0.39030	ATG		0.597	SPTB-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000414080.1			4	42	0	0	0	1	0	4	42					A	65270402	T	A	65270402	3	1	353	1	0	0	0	0	1	0	0	0	15117	1464	51	5	6790	5	SPTB	14	65270402	Missense_Mutation	SNP	T	TCGA-M7-A721-01A-12D-A32B-08	32709523	65270402	42079138	29	17750											
RGS6	9628	broad.mit.edu	37	chr14	72936775	72936775	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gggaattcatctttatgcaaGcagaagcacaagtaaagtag	16	9	10	6	0	2	1	1	0	1	1	2	2	2	2	0	1	3	5	0	1	8	5			TCGA-M7-A721-01A-12D-A32B-08	TCGA-M7-A721-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	292347c6-bf93-4cea-a220-25a1054e259c	aee1ef24-f3b6-446c-8ea1-d1d713c501db	g.chr14:72936775G>A	ENST00000553530.1	+	8	727	c.520G>A	c.(520-522)Gca>Aca	p.A174T	RGS6_ENST00000406236.4_Missense_Mutation_p.A174T|RGS6_ENST00000343854.6_Missense_Mutation_p.A174T|RGS6_ENST00000434263.2_Missense_Mutation_p.A105T|RGS6_ENST00000555571.1_Missense_Mutation_p.A174T|RGS6_ENST00000402788.2_Missense_Mutation_p.A174T|RGS6_ENST00000355512.6_Missense_Mutation_p.A174T|RGS6_ENST00000404301.2_Missense_Mutation_p.A174T|RGS6_ENST00000554782.1_Missense_Mutation_p.A35T|RGS6_ENST00000556437.1_Missense_Mutation_p.A174T|RGS6_ENST00000553525.1_Missense_Mutation_p.A174T|RGS6_ENST00000407322.4_Missense_Mutation_p.A174T|RGS6_ENST00000553690.1_3'UTR	NM_001204417.1|NM_001204418.1|NM_001204420.1|NM_001204421.1|NM_001204422.1|NM_004296.5	NP_001191346.1|NP_001191347.1|NP_001191349.1|NP_001191350.1|NP_001191351.1|NP_004287.3	P49758	RGS6_HUMAN	regulator of G-protein signaling 6	174					G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|positive regulation of GTPase activity (GO:0043547)|positive regulation of neuron differentiation (GO:0045666)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|heterotrimeric G-protein complex (GO:0005834)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|signal transducer activity (GO:0004871)			endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33				all cancers(60;0.00309)|BRCA - Breast invasive adenocarcinoma(234;0.0281)|STAD - Stomach adenocarcinoma(64;0.0302)|OV - Ovarian serous cystadenocarcinoma(108;0.0476)		CTTTATGCAAGCAGAAGCACA	0.413																																					Ovarian(143;1926 2468 21071 48641)	ENST00000553530.1																			0				endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33						c.(520-522)Gca>Aca		regulator of G-protein signaling 6							106	99	101					14																	72936775		2203	4300	6503	SO:0001583	missense	9628				G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|signal transducer activity	g.chr14:72936775G>A	AF073920	CCDS9808.1, CCDS55924.1, CCDS73655.1	14q24.3	2008-07-28	2007-08-14			ENSG00000182732		"Regulators of G-protein signaling"	10002	protein-coding gene	gene with protein product		603894	"regulator of G-protein signalling 6"			10083744, 14734556	Standard	NM_004296		Approved		uc010ttn.2	P49758		ENST00000553530.1:c.520G>A	14.37:g.72936775G>A	ENSP00000452331:p.Ala174Thr					RGS6_ENST00000553525.1_Missense_Mutation_p.A174T|RGS6_ENST00000406236.4_Missense_Mutation_p.A174T|RGS6_ENST00000407322.4_Missense_Mutation_p.A174T|RGS6_ENST00000404301.2_Missense_Mutation_p.A174T|RGS6_ENST00000402788.2_Missense_Mutation_p.A174T|RGS6_ENST00000554782.1_Missense_Mutation_p.A35T|RGS6_ENST00000355512.6_Missense_Mutation_p.A174T|RGS6_ENST00000434263.2_Missense_Mutation_p.A105T|RGS6_ENST00000343854.6_Missense_Mutation_p.A174T|RGS6_ENST00000555571.1_Missense_Mutation_p.A174T|RGS6_ENST00000556437.1_Missense_Mutation_p.A174T|RGS6_ENST00000553690.1_3'UTR	p.A174T	NM_001204417.1|NM_001204418.1|NM_001204420.1|NM_001204421.1|NM_001204422.1|NM_004296.5	NP_001191346.1|NP_001191347.1|NP_001191349.1|NP_001191350.1|NP_001191351.1|NP_004287.3	P49758	RGS6_HUMAN		all cancers(60;0.00309)|BRCA - Breast invasive adenocarcinoma(234;0.0281)|STAD - Stomach adenocarcinoma(64;0.0302)|OV - Ovarian serous cystadenocarcinoma(108;0.0476)	8	727	+			174					C9JE95|F8W7W5|O75576|O75577|Q7Z4K3|Q7Z4K4|Q7Z4K5|Q7Z4K6|Q8TE13|Q8TE14|Q8TE15|Q8TE16|Q8TE17|Q8TE18|Q8TE19|Q8TE20|Q8TE21|Q8TE22|Q9UDS8|Q9UDT0|Q9Y245|Q9Y647	Missense_Mutation	SNP	ENST00000553530.1	37	c.520G>A	CCDS9808.1	.	.	.	.	.	.	.	.	.	.	G	33	5.209664	0.95069	.	.	ENSG00000182732	ENST00000553525;ENST00000555571;ENST00000553530;ENST00000556437;ENST00000355512;ENST00000404301;ENST00000406236;ENST00000407322;ENST00000402788;ENST00000343854;ENST00000453330;ENST00000434263;ENST00000554782;ENST00000535521	T;T;T;T;T;T;T;T;T;T;T;T	0.59224	0.8;0.69;0.69;0.8;0.7;0.82;0.84;0.83;0.69;0.71;0.75;0.28	5.83	5.83	0.93111	.	0.094457	0.64402	D	0.000001	T	0.81640	0.4865	M	0.90542	3.125	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.999;0.994	D	0.84676	0.0714	10	0.87932	D	0	-13.9065	18.8974	0.92429	0.0:0.0:1.0:0.0	.	105;174;179;174	B7Z7N5;P49758-2;Q59FJ8;P49758	.;.;.;RGS6_HUMAN	T	174;174;174;174;174;174;174;174;174;174;146;105;35;35	ENSP00000451030:A174T;ENSP00000450936:A174T;ENSP00000452331:A174T;ENSP00000451855:A174T;ENSP00000347699:A174T;ENSP00000385243:A174T;ENSP00000384218:A174T;ENSP00000384612:A174T;ENSP00000383953:A174T;ENSP00000341199:A174T;ENSP00000412144:A105T;ENSP00000451912:A35T	ENSP00000341199:A174T	A	+	1	0	RGS6	72006528	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.011000	0.93618	2.749000	0.94314	0.655000	0.94253	GCA		0.413	RGS6-003	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000413033.2			15	85	0	0	0	1	0	15	85					A	72936775	G	A	72936775	3	1	353	1	0	0	0	0	1	0	0	0	13309	971	34	3	546	3	RGS6	14	72936775	Missense_Mutation	SNP	G	TCGA-M7-A721-01A-12D-A32B-08	7666373	72936775	34412765	30	17751											
AQR	9716	broad.mit.edu	37	chr15	35207358	35207358	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agagtcaaaaactgcaaattCaatttgggaagagcaagaca	19	7	9	6	0	2	3	2	0	0	3	2	4	2	4	0	1	3	2	0	1	6	2			TCGA-M7-A721-01A-12D-A32B-08	TCGA-M7-A721-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	292347c6-bf93-4cea-a220-25a1054e259c	aee1ef24-f3b6-446c-8ea1-d1d713c501db	g.chr15:35207358C>T	ENST00000156471.5	-	16	1590	c.1365G>A	c.(1363-1365)ttG>ttA	p.L455L		NM_014691.2	NP_055506.1	O60306	AQR_HUMAN	aquarius intron-binding spliceosomal factor	455					mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(10)|lung(18)|ovary(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	57		Lung NSC(122;8.7e-10)|all_lung(180;1.47e-08)		all cancers(64;4.34e-18)|GBM - Glioblastoma multiforme(113;4.59e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0283)		ACTGCAAATTCAATTTGGGAA	0.363																																						ENST00000156471.5																			0				breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(10)|lung(18)|ovary(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	57						c.(1363-1365)ttG>ttA		aquarius intron-binding spliceosomal factor							74	64	67					15																	35207358		1819	4082	5901	SO:0001819	synonymous_variant	9716					catalytic step 2 spliceosome	RNA binding	g.chr15:35207358C>T	AB011132	CCDS42013.1	15q13	2013-09-12	2013-09-12			ENSG00000021776			29513	protein-coding gene	gene with protein product	"functional spliceosome-associated protein 164"	610548	"aquarius homolog (mouse)"			9626505, 16949364	Standard	NM_014691		Approved	KIAA0560, fSAP164, IBP160	uc001ziv.3	O60306		ENST00000156471.5:c.1365G>A	15.37:g.35207358C>T							p.L455L	NM_014691.2	NP_055506.1	O60306	AQR_HUMAN		all cancers(64;4.34e-18)|GBM - Glioblastoma multiforme(113;4.59e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0283)	16	1590	-		Lung NSC(122;8.7e-10)|all_lung(180;1.47e-08)	455					A0JP17|A5YKK3|Q2YDX9|Q6IRU8|Q6PIC8	Silent	SNP	ENST00000156471.5	37	c.1365G>A	CCDS42013.1																																																																																				0.363	AQR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417526.2	NM_014691		3	41	0	0	0	1	0	3	41					T	35207358	C	T	35207358	2	4	353	1	0	0	0	0	0	0	0	1	835	825	29	3		3	AQR	15	35207358	Silent	SNP	C	TCGA-M7-A721-01A-12D-A32B-08		35207358	67324034	31	17752											
SNX22	79856	broad.mit.edu	37	chr15	64445496	64445496	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagttactggaattcctgaGacttcggcacttccccacag	9	10	10	12	1	0	1	0	1	0	1	3	4	2	3	3	3	1	2	3	3	2	4			TCGA-M7-A721-01A-12D-A32B-08	TCGA-M7-A721-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	292347c6-bf93-4cea-a220-25a1054e259c	aee1ef24-f3b6-446c-8ea1-d1d713c501db	g.chr15:64445496G>T	ENST00000325881.4	+	4	376	c.317G>T	c.(316-318)aGa>aTa	p.R106I		NM_024798.2	NP_079074.2	Q96L94	SNX22_HUMAN	sorting nexin 22	106	PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.				protein transport (GO:0015031)	cytoplasmic vesicle (GO:0031410)|membrane (GO:0016020)	phosphatidylinositol binding (GO:0035091)			large_intestine(3)|lung(1)|urinary_tract(2)	6						GAATTCCTGAGACTTCGGCAC	0.597																																						ENST00000325881.4																			0				large_intestine(3)|lung(1)|urinary_tract(2)	6						c.(316-318)aGa>aTa		sorting nexin 22							57	57	57					15																	64445496		2203	4300	6503	SO:0001583	missense	79856				cell communication|protein transport	cytoplasmic vesicle membrane	phosphatidylinositol binding	g.chr15:64445496G>T	AK024014	CCDS10190.1	15q22.1	2010-01-15			ENSG00000157734	ENSG00000157734		"Sorting nexins"	16315	protein-coding gene	gene with protein product						12461558, 17400918	Standard	NR_073534		Approved	FLJ13952	uc002anc.1	Q96L94	OTTHUMG00000132965	ENST00000325881.4:c.317G>T	15.37:g.64445496G>T	ENSP00000323435:p.Arg106Ile						p.R106I	NM_024798.2	NP_079074.2	Q96L94	SNX22_HUMAN			4	376	+			106			PX.		Q8WUS9|Q9H844	Missense_Mutation	SNP	ENST00000325881.4	37	c.317G>T	CCDS10190.1	.	.	.	.	.	.	.	.	.	.	G	13.86	2.362679	0.41902	.	.	ENSG00000157734	ENST00000380278;ENST00000325881	T	0.29917	1.55	5.51	1.47	0.22746	Phox homologous domain (4);	0.302498	0.41194	D	0.000923	T	0.21761	0.0524	L	0.34521	1.04	0.41871	D	0.990275	P;B	0.44877	0.845;0.259	P;B	0.44897	0.463;0.087	T	0.02877	-1.1099	10	0.46703	T	0.11	-14.7904	3.9849	0.09511	0.2774:0.0:0.5505:0.1721	.	106;78	Q96L94;Q6ZTF9	SNX22_HUMAN;.	I	78;106	ENSP00000323435:R106I	ENSP00000323435:R106I	R	+	2	0	SNX22	62232549	1.000000	0.71417	0.994000	0.49952	0.004000	0.04260	1.671000	0.37513	0.677000	0.31305	-0.314000	0.08810	AGA		0.597	SNX22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256524.2	NM_024798		3	40	1	0	0.150653	1	0.153251	3	40					T	64445496	G	T	64445496	3	4	353	1	0	0	0	0	1	0	0	0	14894	942	33	5	331	5	SNX22	15	64445496	Missense_Mutation	SNP	G	TCGA-M7-A721-01A-12D-A32B-08	29238138	64445496	38085896	32	17753											
LRRK1	79705	broad.mit.edu	37	chr15	101606262	101606262	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccagtgtgcctttctccaccGactgcgaggactcagacatg	8	9	10	14	2	2	1	1	0	1	1	3	4	2	2	4	1	2	0	4	1	0	1	rs565686156		TCGA-M7-A721-01A-12D-A32B-08	TCGA-M7-A721-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	292347c6-bf93-4cea-a220-25a1054e259c	aee1ef24-f3b6-446c-8ea1-d1d713c501db	g.chr15:101606262G>A	ENST00000388948.3	+	32	5979	c.5620G>A	c.(5620-5622)Gac>Aac	p.D1874N	RP11-505E24.2_ENST00000559857.1_RNA|LRRK1_ENST00000284395.5_Missense_Mutation_p.D1871N|LRRK1_ENST00000532145.1_3'UTR	NM_024652.3	NP_078928.3			leucine-rich repeat kinase 1											breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			TTTCTCCACCGACTGCGAGGA	0.632													G|||	1	0.000199681	0	0	5008	,	,		18395	0		0	False		,,,				2504	0.001					ENST00000284395.5																			0				breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72						c.(5611-5613)Gac>Aac		leucine-rich repeat kinase 1							103	111	108					15																	101606262		2150	4259	6409	SO:0001583	missense	79705				small GTPase mediated signal transduction	mitochondrion	ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr15:101606262G>A	AB058693	CCDS42086.1	15q26.3	2007-01-29			ENSG00000154237	ENSG00000154237			18608	protein-coding gene	gene with protein product		610986				11347906, 14654223	Standard	XM_005254979		Approved	FLJ23119, KIAA1790, Roco1, RIPK6	uc002bwr.3	Q38SD2	OTTHUMG00000165514	ENST00000388948.3:c.5620G>A	15.37:g.101606262G>A	ENSP00000373600:p.Asp1874Asn					LRRK1_ENST00000388948.3_Missense_Mutation_p.D1874N|RP11-505E24.2_ENST00000559857.1_RNA|LRRK1_ENST00000532145.1_3'UTR	p.D1871N			Q38SD2	LRRK1_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)		33	6011	+	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		1874						Missense_Mutation	SNP	ENST00000388948.3	37	c.5611G>A	CCDS42086.1	.	.	.	.	.	.	.	.	.	.	G	11.07	1.530502	0.27387	.	.	ENSG00000154237	ENST00000388948;ENST00000284395;ENST00000529762;ENST00000542170	T;T	0.76839	-1.0;-1.05	5.61	2.68	0.31781	.	0.485962	0.24134	N	0.041230	T	0.64483	0.2602	L	0.31926	0.97	0.30419	N	0.778274	B	0.19073	0.033	B	0.12837	0.008	T	0.57963	-0.7720	10	0.40728	T	0.16	.	8.2812	0.31902	0.145:0.1292:0.7257:0.0	.	1874	Q38SD2	LRRK1_HUMAN	N	1874;1871;565;428	ENSP00000373600:D1874N;ENSP00000284395:D1871N	ENSP00000284395:D1871N	D	+	1	0	LRRK1	99423785	0.996000	0.38824	0.014000	0.15608	0.044000	0.14063	2.590000	0.46154	0.291000	0.22468	0.655000	0.94253	GAC		0.632	LRRK1-003	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384567.2	NM_024652		6	65	0	0	0	1	0	6	65					A	101606262	G	A	101606262	3	1	353	1	0	0	0	0	1	0	0	0	9032	1058	37	2	5742	2	LRRK1	15	101606262	Missense_Mutation	SNP	G	TCGA-M7-A721-01A-12D-A32B-08	37160766	101606262	925130	33	17754											
ASPA	443	broad.mit.edu	37	chr17	3386885	3386885	+	Splice_Site	DEL	G	G	-																															tccatagccaagtatcctgtGggtaagtcatagttcccact																										TCGA-M7-A721-01A-12D-A32B-08	TCGA-M7-A721-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	292347c6-bf93-4cea-a220-25a1054e259c	aee1ef24-f3b6-446c-8ea1-d1d713c501db	g.chr17:3386885delG	ENST00000263080.2	+	3	683	c.525delG	c.(523-525)gtg>gt	p.V175fs	SPATA22_ENST00000541913.1_Intron|ASPA_ENST00000456349.2_Splice_Site_p.V175fs	NM_000049.2	NP_000040.1	P45381	ACY2_HUMAN	aspartoacylase	175					aspartate catabolic process (GO:0006533)|central nervous system myelination (GO:0022010)|positive regulation of oligodendrocyte differentiation (GO:0048714)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	aminoacylase activity (GO:0004046)|aspartoacylase activity (GO:0019807)|hydrolase activity, acting on ester bonds (GO:0016788)|metal ion binding (GO:0046872)			breast(2)|endometrium(2)|large_intestine(6)|lung(5)|stomach(1)|urinary_tract(1)	17					L-Aspartic Acid(DB00128)	AGTATCCTGTGGGTAAGTCAT	0.383																																						ENST00000263080.2																			0				breast(2)|endometrium(2)|large_intestine(6)|lung(5)|stomach(1)|urinary_tract(1)	17						c.e3+1		aspartoacylase	L-Aspartic Acid(DB00128)						137	122	127					17																	3386885		2203	4300	6503	SO:0001630	splice_region_variant	443				aspartate catabolic process	cytoplasm|nucleus	aminoacylase activity|aspartoacylase activity|hydrolase activity, acting on ester bonds|metal ion binding	g.chr17:3386885delG	S67156	CCDS11028.1	17p13.3	2010-06-24	2010-06-24		ENSG00000108381	ENSG00000108381	3.5.1.15		756	protein-coding gene	gene with protein product	"aminoacylase 2", "Canavan disease"	608034	"aspartoacylase (aminoacylase 2, Canavan disease)"			8252036	Standard	NM_001128085		Approved	ASP, ACY2	uc002fvq.3	P45381	OTTHUMG00000090655	ENST00000263080.2:c.526+1G>-	17.37:g.3386885delG						SPATA22_ENST00000541913.1_Intron|ASPA_ENST00000456349.2_Splice_Site_p.V175_splice	p.V175_splice	NM_000049.2	NP_000040.1	P45381	ACY2_HUMAN			3	683	+			175						Splice_Site	DEL	ENST00000263080.2	37	c.526_splice	CCDS11028.1																																																																																				0.383	ASPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207315.1	NM_000049	Frame_Shift_Del	12	113						12	113	---	---	---	---	-	3386885	G	-	3386885	8	5	353	1	0	1	0	1	0	0	1	0	1050	1362	47	0	535	0	ASPA	17	3386885	Splice_Site	DEL	G	TCGA-M7-A721-01A-12D-A32B-08		3386885	77808325	34	17755											
CD68	968	broad.mit.edu	37	chr17	7484694	7484694	+	Splice_Site	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acctgccctatccttccgccAggtttctcctgccccagtga	5	11	7	18	1	1	1	0	1	1	0	4	1	3	1	8	1	2	1	8	1	1	3			TCGA-M7-A721-01A-12D-A32B-08	TCGA-M7-A721-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	292347c6-bf93-4cea-a220-25a1054e259c	aee1ef24-f3b6-446c-8ea1-d1d713c501db	g.chr17:7484694A>T	ENST00000250092.6	+	6	1142		c.e6-1		SENP3-EIF4A1_ENST00000579777.1_RNA|CD68_ENST00000380498.6_Splice_Site|MPDU1_ENST00000250124.6_5'Flank|MPDU1_ENST00000396501.4_5'Flank|MPDU1_ENST00000582151.1_5'Flank|AC113189.5_ENST00000572046.1_RNA|AC113189.5_ENST00000573187.1_RNA|AC113189.5_ENST00000415124.1_RNA|AC113189.5_ENST00000417897.1_RNA|MPDU1_ENST00000423172.2_5'Flank	NM_001251.2	NP_001242.2	P34810	CD68_HUMAN	CD68 molecule						cellular response to organic substance (GO:0071310)	endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|membrane (GO:0016020)|plasma membrane (GO:0005886)				endometrium(1)|lung(1)|skin(1)	3						TCCTTCCGCCAGGTTTCTCCT	0.567																																						ENST00000250092.6																			0				endometrium(1)|lung(1)|skin(1)	3						c.e6-1		CD68 molecule							232	190	204					17																	7484694		2203	4300	6503	SO:0001630	splice_region_variant	968					endosome membrane|integral to membrane|lysosomal membrane|membrane fraction|plasma membrane		g.chr17:7484694A>T	S57235	CCDS11114.1, CCDS58512.1	17p13	2011-11-24	2006-03-28		ENSG00000129226	ENSG00000129226		"CD molecules"	1693	protein-coding gene	gene with protein product	"scavenger receptor class D, member 1", "CD68 antigen", "macrophage antigen CD68"	153634	"CD68 antigen"			9790779	Standard	NM_001251		Approved	SCARD1, macrosialin, GP110, DKFZp686M18236, LAMP4	uc002ghv.3	P34810	OTTHUMG00000108146	ENST00000250092.6:c.932-1A>T	17.37:g.7484694A>T						CD68_ENST00000380498.6_Splice_Site		NM_001251.2	NP_001242.2	P34810	CD68_HUMAN			6	1142	+								B4DVT4|Q53HR6|Q53XI3|Q96BI7	Splice_Site	SNP	ENST00000250092.6	37		CCDS11114.1	.	.	.	.	.	.	.	.	.	.	A	19.53	3.845289	0.71603	.	.	ENSG00000129226	ENST00000250092;ENST00000380498	.	.	.	5.23	5.23	0.72850	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.4306	0.50038	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CD68	7425418	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	2.487000	0.45268	2.197000	0.70478	0.533000	0.62120	.		0.567	CD68-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226949.3	NM_001251	Intron	4	160	0	0	0	1	0	4	160					T	7484694	A	T	7484694	5	4	353	1	0	0	0	0	0	0	1	0	3030	202	7	5	952	5	CD68	17	7484694	Splice_Site	SNP	A	TCGA-M7-A721-01A-12D-A32B-08	4097809	7484694	73710516	35	17756											
MYH4	4622	broad.mit.edu	37	chr17	10355471	10355471	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	aggtccctgcgcattttctgGaactcagcctcccgcttctt	5	13	8	15	2	3	0	1	0	2	0	5	1	5	1	3	2	3	2	3	2	1	4			TCGA-M7-A721-01A-12D-A32B-08	TCGA-M7-A721-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	292347c6-bf93-4cea-a220-25a1054e259c	aee1ef24-f3b6-446c-8ea1-d1d713c501db	g.chr17:10355471G>A	ENST00000255381.2	-	27	3635	c.3525C>T	c.(3523-3525)ttC>ttT	p.F1175F	CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	1175					actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|membrane organization (GO:0061024)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|response to activity (GO:0014823)	muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|microfilament motor activity (GO:0000146)			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						GCATTTTCTGGAACTCAGCCT	0.597																																						ENST00000255381.2																			0				NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						c.(3523-3525)ttC>ttT		myosin, heavy chain 4, skeletal muscle							97	100	99					17																	10355471		2203	4300	6503	SO:0001819	synonymous_variant	4622				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr17:10355471G>A		CCDS11154.1	17p13.1	2013-09-19	2006-09-29		ENSG00000264424	ENSG00000264424		"Myosins / Myosin superfamily : Class II"	7574	protein-coding gene	gene with protein product		160742	"myosin, heavy polypeptide 4, skeletal muscle"			8518795	Standard	NM_017533		Approved	MYH2B, MyHC-2B, MyHC-IIb	uc002gmn.3	Q9Y623	OTTHUMG00000130365	ENST00000255381.2:c.3525C>T	17.37:g.10355471G>A						CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA	p.F1175F	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN			27	3635	-			1175						Silent	SNP	ENST00000255381.2	37	c.3525C>T	CCDS11154.1																																																																																				0.597	MYH4-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252731.1	NM_017533		5	161	0	0	0	1	0	5	161					A	10355471	G	A	10355471	2	1	353	1	0	0	0	0	0	0	0	1	10037	1165	41	3		3	MYH4	17	10355471	Silent	SNP	G	TCGA-M7-A721-01A-12D-A32B-08	2870777	10355471	70839739	36	17757											
TMEM132E	124842	broad.mit.edu	37	chr17	32964623	32964623	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cgccagccccgtcgtgccacCcacagaagacttcctgccgc	7	5	9	20	4	0	2	0	0	0	2	2	2	1	2	7	0	3	0	7	0	1	1			TCGA-M7-A721-01A-12D-A32B-08	TCGA-M7-A721-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	292347c6-bf93-4cea-a220-25a1054e259c	aee1ef24-f3b6-446c-8ea1-d1d713c501db	g.chr17:32964623C>A	ENST00000321639.5	+	10	2655	c.2327C>A	c.(2326-2328)cCc>cAc	p.P776H		NM_207313.1	NP_997196.1	Q6IEE7	T132E_HUMAN	transmembrane protein 132E	776						integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(28)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	57				BRCA - Breast invasive adenocarcinoma(366;0.231)		GTCGTGCCACCCACAGAAGAC	0.736																																						ENST00000321639.5																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(28)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	57						c.(2326-2328)cCc>cAc		transmembrane protein 132E							21	24	23					17																	32964623		2201	4299	6500	SO:0001583	missense	124842					integral to membrane		g.chr17:32964623C>A	BN000149	CCDS11283.1	17q12	2012-11-01			ENSG00000181291	ENSG00000181291			26991	protein-coding gene	gene with protein product							Standard	NM_207313		Approved		uc002hif.3	Q6IEE7	OTTHUMG00000132927	ENST00000321639.5:c.2327C>A	17.37:g.32964623C>A	ENSP00000316532:p.Pro776His						p.P776H	NM_207313.1	NP_997196.1	Q6IEE7	T132E_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.231)	10	2655	+			776					Q8WUF4|Q8WVA5	Missense_Mutation	SNP	ENST00000321639.5	37	c.2327C>A	CCDS11283.1	.	.	.	.	.	.	.	.	.	.	C	17.56	3.420459	0.62622	.	.	ENSG00000181291	ENST00000321639	T	0.17370	2.28	4.53	4.53	0.55603	.	0.457306	0.22735	N	0.056264	T	0.18964	0.0455	N	0.11427	0.14	0.49051	D	0.999742	D	0.65815	0.995	P	0.55824	0.785	T	0.13415	-1.0510	10	0.44086	T	0.13	-30.9648	16.4414	0.83901	0.0:1.0:0.0:0.0	.	776	Q6IEE7	T132E_HUMAN	H	776	ENSP00000316532:P776H	ENSP00000316532:P776H	P	+	2	0	TMEM132E	29988736	1.000000	0.71417	0.976000	0.42696	0.739000	0.42172	4.153000	0.58118	2.357000	0.79964	0.498000	0.49722	CCC		0.736	TMEM132E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256440.2	NM_207313		4	27	1	0	0.150653	1	0.153251	4	27					A	32964623	C	A	32964623	3	1	353	1	0	0	0	0	1	0	0	0	16045	623	22	5	2365	5	TMEM132E	17	32964623	Missense_Mutation	SNP	C	TCGA-M7-A721-01A-12D-A32B-08	22609152	32964623	48230587	37	17758											
FBN3	84467	broad.mit.edu	37	chr19	8130923	8130923	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acctccagccggtaggttccAggccccggccgcctccgccc	4	5	11	21	4	0	0	0	0	0	0	3	0	3	0	10	4	1	2	10	4	1	2			TCGA-M7-A721-01A-12D-A32B-08	TCGA-M7-A721-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	292347c6-bf93-4cea-a220-25a1054e259c	aee1ef24-f3b6-446c-8ea1-d1d713c501db	g.chr19:8130923A>C	ENST00000600128.1	-	64	8724	c.8310T>G	c.(8308-8310)ccT>ccG	p.P2770P	FBN3_ENST00000601739.1_Silent_p.P2770P|FBN3_ENST00000270509.2_Silent_p.P2770P			Q75N90	FBN3_HUMAN	fibrillin 3	2770						proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						GGTAGGTTCCAGGCCCCGGCC	0.677																																						ENST00000600128.1																			0				NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						c.(8308-8310)ccT>ccG		fibrillin 3							42	45	44					19																	8130923		2202	4299	6501	SO:0001819	synonymous_variant	84467					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent	g.chr19:8130923A>C		CCDS12196.1	19p13	2008-02-05							18794	protein-coding gene	gene with protein product		608529					Standard	NM_032447		Approved		uc002mjf.3	Q75N90		ENST00000600128.1:c.8310T>G	19.37:g.8130923A>C						FBN3_ENST00000270509.2_Silent_p.P2770P|FBN3_ENST00000601739.1_Silent_p.P2770P	p.P2770P			Q75N90	FBN3_HUMAN			64	8724	-			2770					Q75N91|Q75N92|Q75N93|Q86SJ5|Q96JP8	Silent	SNP	ENST00000600128.1	37	c.8310T>G	CCDS12196.1																																																																																				0.677	FBN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461428.2	NM_032447		14	51	0	0	0	1	0	14	51					C	8130923	A	C	8130923	2	2	353	1	0	0	0	0	0	0	0	1	5704	175	7	5		5	FBN3	19	8130923	Silent	SNP	A	TCGA-M7-A721-01A-12D-A32B-08		8130923	50998060	38	17759											
SLC44A2	57153	broad.mit.edu	37	chr19	10747165	10747165	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctggcgctgggccaggtcaCgctggccggggcctttgcct	2	8	17	14	3	1	0	1	0	0	0	1	0	1	0	4	6	1	3	4	6	0	1			TCGA-M7-A721-01A-12D-A32B-08	TCGA-M7-A721-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	292347c6-bf93-4cea-a220-25a1054e259c	aee1ef24-f3b6-446c-8ea1-d1d713c501db	g.chr19:10747165C>T	ENST00000335757.5	+	15	1776	c.1400C>T	c.(1399-1401)aCg>aTg	p.T467M	SLC44A2_ENST00000586078.1_Missense_Mutation_p.T467M|SLC44A2_ENST00000407327.4_Missense_Mutation_p.T465M			Q8IWA5	CTL2_HUMAN	solute carrier family 44 (choline transporter), member 2	467					choline transport (GO:0015871)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	choline transmembrane transporter activity (GO:0015220)|signal transducer activity (GO:0004871)			NS(1)|breast(3)|endometrium(5)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	27			Epithelial(33;8.7e-06)|all cancers(31;2.77e-05)		Choline(DB00122)	GGCCAGGTCACGCTGGCCGGG	0.667																																						ENST00000586078.1																			0				NS(1)|breast(3)|endometrium(5)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	27						c.(1399-1401)aCg>aTg		solute carrier family 44 (choline transporter), member 2	Choline(DB00122)						67	69	68					19																	10747165		2203	4300	6503	SO:0001583	missense	57153				positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to membrane|plasma membrane	choline transmembrane transporter activity|signal transducer activity	g.chr19:10747165C>T	AF070636	CCDS12245.1, CCDS54216.1	19p13.2	2014-08-12	2013-07-17		ENSG00000129353	ENSG00000129353		"Solute carriers"	17292	protein-coding gene	gene with protein product		606106				10677542, 15715662	Standard	NM_001145056		Approved	CTL2	uc002mpf.3	Q8IWA5	OTTHUMG00000180585	ENST00000335757.5:c.1400C>T	19.37:g.10747165C>T	ENSP00000336888:p.Thr467Met					SLC44A2_ENST00000335757.5_Missense_Mutation_p.T467M|SLC44A2_ENST00000407327.4_Missense_Mutation_p.T465M	p.T467M	NM_020428.3	NP_065161.3	Q8IWA5	CTL2_HUMAN	Epithelial(33;8.7e-06)|all cancers(31;2.77e-05)		15	1509	+			467					B2RBB1|B3KNH3|B4DFJ0|F2Q9D7|Q658V1|Q658Z2|Q6PJV7|Q8N2F0|Q9NY68	Missense_Mutation	SNP	ENST00000335757.5	37	c.1400C>T	CCDS12245.1	.	.	.	.	.	.	.	.	.	.	C	27.7	4.853727	0.91355	.	.	ENSG00000129353	ENST00000407327;ENST00000335757;ENST00000380614	T;T	0.27720	1.65;1.65	5.8	5.8	0.92144	.	0.092361	0.64402	D	0.000001	T	0.66848	0.2831	M	0.92555	3.32	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.75484	0.982;0.986;0.982	T	0.74334	-0.3699	10	0.72032	D	0.01	-27.0188	18.8323	0.92145	0.0:1.0:0.0:0.0	.	467;467;465	Q8IWA5-2;Q8IWA5;Q8IWA5-3	.;CTL2_HUMAN;.	M	465;467;467	ENSP00000385135:T465M;ENSP00000336888:T467M	ENSP00000336888:T467M	T	+	2	0	SLC44A2	10608165	1.000000	0.71417	0.964000	0.40570	0.784000	0.44337	7.744000	0.85034	2.755000	0.94549	0.655000	0.94253	ACG		0.667	SLC44A2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452045.1			9	82	0	0	0	1	0	9	82					T	10747165	C	T	10747165	3	4	353	1	0	0	0	0	1	0	0	0	14636	536	19	1	1493	1	SLC44A2	19	10747165	Missense_Mutation	SNP	C	TCGA-M7-A721-01A-12D-A32B-08	2616242	10747165	48381818	39	17760											
ZFP112	7771	broad.mit.edu	37	chr19	44832431	44832431	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acatttgaatggtttttctcCagtgtggactctctgatggc	7	16	10	8	0	2	2	0	2	2	0	4	3	2	3	1	3	0	1	1	3	1	3			TCGA-M7-A721-01A-12D-A32B-08	TCGA-M7-A721-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	292347c6-bf93-4cea-a220-25a1054e259c	aee1ef24-f3b6-446c-8ea1-d1d713c501db	g.chr19:44832431C>G	ENST00000337401.4	-	5	1985	c.1897G>C	c.(1897-1899)Gga>Cga	p.G633R	ZNF112_ENST00000536500.1_Missense_Mutation_p.G650R|ZNF112_ENST00000354340.4_Missense_Mutation_p.G627R	NM_001083335.1	NP_001076804.1	Q9UJU3	ZN112_HUMAN	zinc finger protein 112	633					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)										GGTTTTTCTCCAGTGTGGACT	0.453																																						ENST00000354340.4																			0											c.(1879-1881)Gga>Cga		zinc finger protein 112							125	126	125					19																	44832431		2203	4300	6503	SO:0001583	missense	7665							g.chr19:44832431C>G	AF198358		19q13.2	2014-02-06	2012-11-27		ENSG00000062370	ENSG00000062370		"Zinc fingers, C2H2-type"	12892	protein-coding gene	gene with protein product		603994	"zinc finger protein 112 homolog (mouse)", "zinc finger protein 228"	ZFP112, ZNF228			Standard	NM_013380		Approved			Q9UJU3	OTTHUMG00000182357	ENST00000337401.4:c.1897G>C	19.37:g.44832431C>G	ENSP00000337081:p.Gly633Arg					ZNF112_ENST00000337401.4_Missense_Mutation_p.G633R|ZNF112_ENST00000536500.1_Missense_Mutation_p.G650R	p.G627R	NM_013380.3	NP_037512.3					4	1930	-								A4FU53|Q9HCA7	Missense_Mutation	SNP	ENST00000337401.4	37	c.1879G>C	CCDS54276.1	.	.	.	.	.	.	.	.	.	.	C	18.58	3.655759	0.67586	.	.	ENSG00000062370	ENST00000337401;ENST00000412927;ENST00000354340;ENST00000536500;ENST00000253426	T;T;T	0.01629	4.72;4.72;4.72	5.0	5.0	0.66597	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.33235	N	0.005123	T	0.08626	0.0214	L	0.56280	1.765	0.44380	D	0.997281	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	T	0.02774	-1.1112	10	0.87932	D	0	-23.2349	17.4332	0.87544	0.0:1.0:0.0:0.0	.	632;650;633	B4DYT4;F5GWS7;Q9UJU3	.;.;ZF112_HUMAN	R	633;633;627;650;632	ENSP00000337081:G633R;ENSP00000346305:G627R;ENSP00000441990:G650R	ENSP00000253426:G632R	G	-	1	0	ZNF285	49524271	0.254000	0.23992	0.994000	0.49952	0.999000	0.98932	2.214000	0.42853	2.484000	0.83849	0.655000	0.94253	GGA		0.453	ZNF112-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460744.1	NM_013380		11	232	0	0	0	1	0	11	232					G	44832431	C	G	44832431	3	3	353	1	0	0	0	0	1	0	0	0	17635	603	21	5	848	5	ZFP112	19	44832431	Missense_Mutation	SNP	C	TCGA-M7-A721-01A-12D-A32B-08	34085266	44832431	14296552	40	17761											
ZNF417	147687	broad.mit.edu	37	chr19	58420529	58420529	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aggcctttctccagtgtgaaCacgctgatggttaataaagc	11	11	10	9	1	1	2	0	2	1	0	2	2	1	2	2	2	2	2	2	2	4	3			TCGA-M7-A721-01A-12D-A32B-08	TCGA-M7-A721-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	292347c6-bf93-4cea-a220-25a1054e259c	aee1ef24-f3b6-446c-8ea1-d1d713c501db	g.chr19:58420529C>A	ENST00000312026.5	-	3	1281	c.1117G>T	c.(1117-1119)Gtt>Ttt	p.V373F	ZNF417_ENST00000536263.1_Missense_Mutation_p.V174F|CTD-2583A14.9_ENST00000602124.1_Intron|ZNF417_ENST00000595559.1_Missense_Mutation_p.V372F	NM_152475.2	NP_689688.2	Q8TAU3	ZN417_HUMAN	zinc finger protein 417	373					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|stomach(3)|upper_aerodigestive_tract(1)	18		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0151)		CCAGTGTGAACACGCTGATGG	0.448																																						ENST00000312026.5																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|stomach(3)|upper_aerodigestive_tract(1)	18						c.(1117-1119)Gtt>Ttt		zinc finger protein 417							130	122	125					19																	58420529		2203	4299	6502	SO:0001583	missense	147687				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58420529C>A	BC025783	CCDS12965.1, CCDS74469.1	19q13.43	2013-01-08				ENSG00000173480		"Zinc fingers, C2H2-type", "-"	20646	protein-coding gene	gene with protein product							Standard	NM_152475		Approved	MGC34079	uc002qqq.3	Q8TAU3		ENST00000312026.5:c.1117G>T	19.37:g.58420529C>A	ENSP00000311319:p.Val373Phe					ZNF417_ENST00000595559.1_Missense_Mutation_p.V372F|ZNF417_ENST00000536263.1_Missense_Mutation_p.V174F|CTD-2583A14.9_ENST00000602124.1_Intron	p.V373F	NM_152475.2	NP_689688.2	Q8TAU3	ZN417_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0151)	3	1281	-		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)	373					B4DEU1	Missense_Mutation	SNP	ENST00000312026.5	37	c.1117G>T	CCDS12965.1	.	.	.	.	.	.	.	.	.	.	.	13.76	2.332815	0.41297	.	.	ENSG00000173480	ENST00000312026;ENST00000536263	T;T	0.01025	5.43;5.43	1.66	0.542	0.17174	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.02610	0.0079	L	0.61218	1.895	0.23661	N	0.997171	D;D	0.58620	0.96;0.983	P;P	0.61328	0.887;0.759	T	0.45775	-0.9238	9	0.52906	T	0.07	.	3.7833	0.08689	0.0:0.527:0.0:0.473	.	373;373	F5H0M9;Q8TAU3	.;ZN417_HUMAN	F	373;174	ENSP00000311319:V373F;ENSP00000442760:V174F	ENSP00000311319:V373F	V	-	1	0	ZNF417	63112341	0.000000	0.05858	0.021000	0.16686	0.142000	0.21351	-1.276000	0.02815	0.223000	0.20920	0.306000	0.20318	GTT		0.448	ZNF417-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466860.1	NM_152475		10	192	1	0	0.000673444	1	0.000722422	10	192					A	58420529	C	A	58420529	3	1	353	1	0	0	0	0	1	0	0	0	17891	478	17	5	614	5	ZNF417	19	58420529	Missense_Mutation	SNP	C	TCGA-M7-A721-01A-12D-A32B-08	13588098	58420529	708454	41	17762											
MYH9	4627	broad.mit.edu	37	chr22	36708179	36708179	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggggtgggtgccctgctccTgcatcaccttctccacgaag	5	10	12	14	1	2	0	1	0	1	0	4	1	3	0	4	3	3	2	4	3	1	1			TCGA-M7-A721-01A-12D-A32B-08	TCGA-M7-A721-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	292347c6-bf93-4cea-a220-25a1054e259c	aee1ef24-f3b6-446c-8ea1-d1d713c501db	g.chr22:36708179T>A	ENST00000216181.5	-	14	1873	c.1643A>T	c.(1642-1644)cAg>cTg	p.Q548L		NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle	548	Myosin motor.				actin cytoskeleton reorganization (GO:0031532)|actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|angiogenesis (GO:0001525)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood vessel endothelial cell migration (GO:0043534)|cytokinesis (GO:0000910)|establishment of meiotic spindle localization (GO:0051295)|establishment of T cell polarity (GO:0001768)|in utero embryonic development (GO:0001701)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|meiotic spindle organization (GO:0000212)|membrane protein ectodomain proteolysis (GO:0006509)|monocyte differentiation (GO:0030224)|myoblast fusion (GO:0007520)|platelet aggregation (GO:0070527)|platelet formation (GO:0030220)|protein transport (GO:0015031)|regulation of cell shape (GO:0008360)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|uropod organization (GO:0032796)	actin cytoskeleton (GO:0015629)|actomyosin (GO:0042641)|actomyosin contractile ring (GO:0005826)|cell leading edge (GO:0031252)|cell-cell adherens junction (GO:0005913)|cleavage furrow (GO:0032154)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|membrane (GO:0016020)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ruffle (GO:0001726)|spindle (GO:0005819)|stress fiber (GO:0001725)|uropod (GO:0001931)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|motor activity (GO:0003774)|poly(A) RNA binding (GO:0044822)|protein anchor (GO:0043495)|protein homodimerization activity (GO:0042803)			NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						GCCCTGCTCCTGCATCACCTT	0.607			T	ALK	ALCL		"Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"		Hereditary Macrothrombocytopenia, MYH9-associated																													ENST00000216181.5				Dom	yes		22	22q13.1	4627	T	"myosin, heavy polypeptide 9, non-muscle"	yes	"Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"	L	ALK		ALCL		0				NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						c.(1642-1644)cAg>cTg		myosin, heavy chain 9, non-muscle							148	118	128					22																	36708179		2203	4300	6503	SO:0001583	missense	4627	Hereditary Macrothrombocytopenia, MYH9-associated	Familial Cancer Database	MYHIIA syndrome, incl. Fechtner Syndrome, FTNS, and May-Hegglin Anomaly, MHA	actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity	g.chr22:36708179T>A		CCDS13927.1	22q13.1	2014-09-17	2006-09-29		ENSG00000100345	ENSG00000100345		"Myosins / Myosin superfamily : Class II"	7579	protein-coding gene	gene with protein product	"nonmuscle myosin heavy chain II-A"	160775	"myosin, heavy polypeptide 9, non-muscle"	DFNA17		1860190, 11023810	Standard	NM_002473		Approved	NMMHCA, NMHC-II-A, MHA, FTNS, EPSTS	uc003apg.3	P35579	OTTHUMG00000030429	ENST00000216181.5:c.1643A>T	22.37:g.36708179T>A	ENSP00000216181:p.Gln548Leu						p.Q548L	NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN			14	1873	-			548			Myosin head-like.		A8K6E4|O60805|Q60FE2|Q86T83	Missense_Mutation	SNP	ENST00000216181.5	37	c.1643A>T	CCDS13927.1	.	.	.	.	.	.	.	.	.	.	T	18.72	3.685190	0.68157	.	.	ENSG00000100345	ENST00000337818;ENST00000216181	T	0.72505	-0.66	4.57	4.57	0.56435	Myosin head, motor domain (2);	0.000000	0.85682	D	0.000000	T	0.62060	0.2397	L	0.41124	1.26	0.80722	D	1	P	0.37864	0.61	B	0.35240	0.198	T	0.68221	-0.5466	10	0.87932	D	0	.	13.9237	0.63950	0.0:0.0:0.0:1.0	.	548	P35579	MYH9_HUMAN	L	412;548	ENSP00000216181:Q548L	ENSP00000216181:Q548L	Q	-	2	0	MYH9	35038125	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	8.040000	0.89188	1.833000	0.53350	0.459000	0.35465	CAG		0.607	MYH9-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000259110.3	NM_002473		8	64	0	0	0	1	0	8	64					A	36708179	T	A	36708179	3	1	353	1	0	0	0	0	1	0	0	0	10042	1580	55	5	4351	5	MYH9	22	36708179	Missense_Mutation	SNP	T	TCGA-M7-A721-01A-12D-A32B-08		36708179	14596387	42	17763											
WNT7B	7477	broad.mit.edu	37	chr22	46319177	46319177	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgcaggagccagacacgccGtggcacttgcactccagctg	8	6	13	14	2	0	1	0	0	0	1	1	2	1	2	3	2	4	4	3	2	0	1	rs75306409	byFrequency	TCGA-M7-A721-01A-12D-A32B-08	TCGA-M7-A721-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	292347c6-bf93-4cea-a220-25a1054e259c	aee1ef24-f3b6-446c-8ea1-d1d713c501db	g.chr22:46319177G>A	ENST00000339464.4	-	4	983	c.609C>T	c.(607-609)caC>caT	p.H203H	WNT7B_ENST00000410089.1_Silent_p.H187H|WNT7B_ENST00000409496.3_Silent_p.H207H	NM_058238.2	NP_478679.1	P56706	WNT7B_HUMAN	wingless-type MMTV integration site family, member 7B	203					activation of JUN kinase activity (GO:0007257)|anatomical structure regression (GO:0060033)|apoptotic process involved in patterning of blood vessels (GO:1902262)|canonical Wnt signaling pathway (GO:0060070)|cell fate commitment (GO:0045165)|cellular metabolic process (GO:0044237)|cellular response to retinoic acid (GO:0071300)|central nervous system vasculogenesis (GO:0022009)|chorio-allantoic fusion (GO:0060710)|developmental growth involved in morphogenesis (GO:0060560)|embryonic organ development (GO:0048568)|embryonic placenta morphogenesis (GO:0060669)|establishment or maintenance of polarity of embryonic epithelium (GO:0016332)|fibroblast proliferation (GO:0048144)|forebrain regionalization (GO:0021871)|homeostatic process (GO:0042592)|in utero embryonic development (GO:0001701)|inner medullary collecting duct development (GO:0072061)|lens fiber cell development (GO:0070307)|lobar bronchus development (GO:0060482)|lung development (GO:0030324)|lung epithelium development (GO:0060428)|lung morphogenesis (GO:0060425)|lung-associated mesenchyme development (GO:0060484)|mammary gland epithelium development (GO:0061180)|metanephric collecting duct development (GO:0072205)|metanephric epithelium development (GO:0072207)|metanephric loop of Henle development (GO:0072236)|metanephros morphogenesis (GO:0003338)|negative regulation of smoothened signaling pathway (GO:0045879)|neuron differentiation (GO:0030182)|neuron projection morphogenesis (GO:0048812)|odontogenesis of dentin-containing tooth (GO:0042475)|outer medullary collecting duct development (GO:0072060)|oxygen homeostasis (GO:0032364)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of JNK cascade (GO:0046330)|positive regulation of osteoblast differentiation (GO:0045669)|regulation of cell projection size (GO:0032536)|renal inner medulla development (GO:0072053)|renal outer medulla development (GO:0072054)|response to glucocorticoid (GO:0051384)|smooth muscle cell differentiation (GO:0051145)|stem cell proliferation (GO:0072089)|synapse organization (GO:0050808)|trachea cartilage morphogenesis (GO:0060535)|Wnt signaling pathway (GO:0016055)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)			endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	19		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)|LUAD - Lung adenocarcinoma(64;0.247)		CAGACACGCCGTGGCACTTGC	0.647													G|||	2	0.000399361	0.0015	0	5008	,	,		18382	0		0	False		,,,				2504	0					ENST00000339464.4																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	19						c.(607-609)caC>caT		wingless-type MMTV integration site family, member 7B		G		2,4404	4.2+/-10.8	0,2,2201	40	37	38		609	2.3	1	22	dbSNP_131	38	0,8596		0,0,4298	no	coding-synonymous	WNT7B	NM_058238.2		0,2,6499	AA,AG,GG		0.0,0.0454,0.0154		203/350	46319177	2,13000	2203	4298	6501	SO:0001819	synonymous_variant	7477				activation of JUN kinase activity|anterior/posterior pattern formation|axis specification|axonogenesis|canonical Wnt receptor signaling pathway|cell-cell signaling|cellular response to retinoic acid|central nervous system vasculogenesis|chorio-allantoic fusion|developmental growth involved in morphogenesis|embryonic placenta morphogenesis|establishment or maintenance of polarity of embryonic epithelium|fibroblast proliferation|forebrain regionalization|inner medullary collecting duct development|lens fiber cell development|lobar bronchus development|lung epithelium development|lung morphogenesis|lung-associated mesenchyme development|mammary gland epithelium development|metanephric collecting duct development|metanephric loop of Henle development|metanephros morphogenesis|negative regulation of smoothened signaling pathway|outer medullary collecting duct development|oxygen homeostasis|positive regulation of JNK cascade|positive regulation of osteoblast differentiation|renal inner medulla development|renal outer medulla development|stem cell proliferation|synapse organization|trachea cartilage morphogenesis|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|frizzled binding|signal transducer activity	g.chr22:46319177G>A	AF416743	CCDS33667.1	22q13	2013-02-28			ENSG00000188064	ENSG00000188064		"Wingless-type MMTV integration sites", "Endogenous ligands"	12787	protein-coding gene	gene with protein product		601967				8168088, 9284940, 11562755	Standard	NM_058238		Approved		uc003bgo.2	P56706	OTTHUMG00000154636	ENST00000339464.4:c.609C>T	22.37:g.46319177G>A						WNT7B_ENST00000409496.3_Silent_p.H207H|WNT7B_ENST00000410089.1_Silent_p.H187H	p.H203H	NM_058238.2	NP_478679.1	P56706	WNT7B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)|LUAD - Lung adenocarcinoma(64;0.247)	4	983	-		Ovarian(80;0.00965)|all_neural(38;0.0416)	203					B8A596|Q96Q12	Silent	SNP	ENST00000339464.4	37	c.609C>T	CCDS33667.1																																																																																				0.647	WNT7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336418.1	NM_058238		3	30	0	0	0	1	0	3	30					A	46319177	G	A	46319177	2	1	353	1	0	0	0	0	0	0	0	1	17392	1136	40	1		1	WNT7B	22	46319177	Silent	SNP	G	TCGA-M7-A721-01A-12D-A32B-08	9610998	46319177	4985389	43	17764											
TLR8	51311	broad.mit.edu	37	chrX	12938245	12938245	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	catattaatatttccagaaaCttctctaaacttttgtctct	12	18	2	9	0	2	1	0	0	2	1	5	1	3	1	1	0	2	0	1	0	6	8			TCGA-M7-A721-01A-12D-A32B-08	TCGA-M7-A721-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	292347c6-bf93-4cea-a220-25a1054e259c	aee1ef24-f3b6-446c-8ea1-d1d713c501db	g.chrX:12938245C>T	ENST00000218032.6	+	2	1173	c.1086C>T	c.(1084-1086)aaC>aaT	p.N362N	TLR8_ENST00000311912.5_Silent_p.N380N	NM_138636.4	NP_619542.1	Q9NR97	TLR8_HUMAN	toll-like receptor 8	362					cellular response to mechanical stimulus (GO:0071260)|defense response to virus (GO:0051607)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|immunoglobulin mediated immune response (GO:0016064)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|microglial cell activation involved in immune response (GO:0002282)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of innate immune response (GO:0045089)|positive regulation of interferon-alpha biosynthetic process (GO:0045356)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|positive regulation of interleukin-8 biosynthetic process (GO:0045416)|regulation of cytokine secretion (GO:0050707)|response to virus (GO:0009615)|toll-like receptor 8 signaling pathway (GO:0034158)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	endolysosome membrane (GO:0036020)|endoplasmic reticulum membrane (GO:0005789)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|drug binding (GO:0008144)|receptor activity (GO:0004872)|RNA binding (GO:0003723)|single-stranded RNA binding (GO:0003727)			breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50					Imiquimod(DB00724)	TTTCCAGAAACTTCTCTAAAC	0.403																																						ENST00000218032.6																			0				breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						c.(1084-1086)aaC>aaT		toll-like receptor 8							81	85	83					X																	12938245		2196	4293	6489	SO:0001819	synonymous_variant	51311				cellular response to mechanical stimulus|defense response to virus|I-kappaB kinase/NF-kappaB cascade|immunoglobulin mediated immune response|inflammatory response|innate immune response|positive regulation of innate immune response|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process	endosome membrane	DNA binding|double-stranded RNA binding|single-stranded RNA binding|transmembrane receptor activity	g.chrX:12938245C>T	AF246971	CCDS14152.1, CCDS14153.1	Xp22	2009-11-23			ENSG00000101916	ENSG00000101916		"CD molecules"	15632	protein-coding gene	gene with protein product		300366				11022119	Standard	NM_138636		Approved	CD288	uc004cve.3	Q9NR97	OTTHUMG00000021145	ENST00000218032.6:c.1086C>T	X.37:g.12938245C>T						TLR8_ENST00000311912.5_Silent_p.N380N	p.N362N	NM_138636.4	NP_619542.1	Q9NR97	TLR8_HUMAN			2	1173	+			362					B3Y654|D1CS70|D1CS76|Q495P4|Q6UXL6|Q9NYG9	Silent	SNP	ENST00000218032.6	37	c.1086C>T	CCDS14152.1																																																																																				0.403	TLR8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055784.2	NM_016610		11	106	0	0	0	1	0	11	106					T	12938245	C	T	12938245	2	4	353	1	0	0	0	0	0	0	0	1	15954	564	20	3		3	TLR8	23	12938245	Silent	SNP	C	TCGA-M7-A721-01A-12D-A32B-08		12938245	142332315	44	17765											
DDX53	168400	broad.mit.edu	37	chrX	23018291	23018291	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agtggccccttcggccatcaGggaccgagagcagcaggctc	8	5	14	14	2	1	1	1	0	0	1	3	3	1	2	4	4	2	3	4	4	0	1			TCGA-M7-A721-01A-12D-A32B-08	TCGA-M7-A721-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	292347c6-bf93-4cea-a220-25a1054e259c	aee1ef24-f3b6-446c-8ea1-d1d713c501db	g.chrX:23018291G>T	ENST00000327968.5	+	1	205	c.117G>T	c.(115-117)caG>caT	p.Q39H	RP11-40F8.2_ENST00000455399.1_lincRNA	NM_182699.3	NP_874358.2	Q86TM3	DDX53_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 53	39						nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|RNA binding (GO:0003723)			breast(2)|endometrium(5)|kidney(4)|large_intestine(3)|lung(15)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	35						TCGGCCATCAGGGACCGAGAG	0.542																																						ENST00000327968.5																			0				breast(2)|endometrium(5)|kidney(4)|large_intestine(3)|lung(15)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	35						c.(115-117)caG>caT		DEAD (Asp-Glu-Ala-Asp) box polypeptide 53							52	49	50					X																	23018291		2203	4300	6503	SO:0001583	missense	168400					nucleus	ATP binding|ATP-dependent helicase activity|RNA binding	g.chrX:23018291G>T	AY039237	CCDS35214.1	Xp22.13	2009-03-25			ENSG00000184735	ENSG00000184735		"DEAD-boxes"	20083	protein-coding gene	gene with protein product	"cancer associated gene", "cancer/testis antigen 26"						Standard	NM_182699		Approved	CAGE, CT26	uc004daj.3	Q86TM3	OTTHUMG00000021248	ENST00000327968.5:c.117G>T	X.37:g.23018291G>T	ENSP00000368667:p.Gln39His					RP11-40F8.2_ENST00000455399.1_RNA	p.Q39H	NM_182699.3	NP_874358.2	Q86TM3	DDX53_HUMAN			1	205	+			39					Q0D2N2|Q6NVV4	Missense_Mutation	SNP	ENST00000327968.5	37	c.117G>T	CCDS35214.1	.	.	.	.	.	.	.	.	.	.	G	8.088	0.773792	0.16051	.	.	ENSG00000184735	ENST00000327968	T	0.21191	2.02	3.21	-2.18	0.07037	.	3.239880	0.01501	U	0.017511	T	0.12774	0.0310	N	0.24115	0.695	0.09310	N	1	P	0.44090	0.826	B	0.38056	0.264	T	0.10776	-1.0615	10	0.45353	T	0.12	.	3.4022	0.07328	0.2333:0.0:0.2567:0.51	.	39	Q86TM3	DDX53_HUMAN	H	39	ENSP00000368667:Q39H	ENSP00000368667:Q39H	Q	+	3	2	DDX53	22928212	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.455000	0.02379	-0.739000	0.04809	-0.222000	0.12452	CAG		0.542	DDX53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056043.1	NM_182699		4	13	1	0	0.150653	1	0.153251	4	13					T	23018291	G	T	23018291	3	4	353	1	0	0	0	0	1	0	0	0	4371	991	35	5	119	5	DDX53	23	23018291	Missense_Mutation	SNP	G	TCGA-M7-A721-01A-12D-A32B-08	10080046	23018291	132252269	45	17766											
ERCC6L	54821	broad.mit.edu	37	chrX	71425375	71425375	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcatagacttatttacactaCtgggtatttgagatgaaaag	14	14	8	5	0	1	3	1	2	0	2	1	4	1	3	0	1	2	1	0	1	7	7			TCGA-M7-A721-01A-12D-A32B-08	TCGA-M7-A721-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	292347c6-bf93-4cea-a220-25a1054e259c	aee1ef24-f3b6-446c-8ea1-d1d713c501db	g.chrX:71425375C>G	ENST00000334463.3	-	2	3377	c.3242G>C	c.(3241-3243)aGt>aCt	p.S1081T	PIN4_ENST00000423432.2_Intron|ERCC6L_ENST00000373657.1_Missense_Mutation_p.S958T	NM_017669.2	NP_060139.2	Q2NKX8	ERC6L_HUMAN	excision repair cross-complementation group 6-like	1081					mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			breast(2)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(9)|lung(9)|ovary(3)|skin(1)	38	Renal(35;0.156)					ATTTACACTACTGGGTATTTG	0.388																																						ENST00000373657.1																			0				breast(2)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(9)|lung(9)|ovary(3)|skin(1)	38						c.(2872-2874)aGt>aCt		excision repair cross-complementing rodent repair deficiency, complementation group 6-like							74	77	76					X																	71425375		2203	4300	6503	SO:0001583	missense	54821				cell division|mitotic prometaphase	condensed chromosome kinetochore|cytosol	ATP binding|DNA binding|helicase activity|protein binding	g.chrX:71425375C>G	AK000112	CCDS35329.1	Xq13.1	2014-03-07	2014-03-07		ENSG00000186871	ENSG00000186871			20794	protein-coding gene	gene with protein product	"PLK1-interacting checkpoint helicase"	300687	"excision repair cross-complementing rodent repair deficiency, complementation group 6-like"			17218258	Standard	NM_017669		Approved	FLJ20105, PICH, RAD26L	uc004eaq.1	Q2NKX8	OTTHUMG00000021810	ENST00000334463.3:c.3242G>C	X.37:g.71425375C>G	ENSP00000334675:p.Ser1081Thr					PIN4_ENST00000423432.2_Intron|ERCC6L_ENST00000334463.3_Missense_Mutation_p.S1081T	p.S958T			Q2NKX8	ERC6L_HUMAN			3	3475	-	Renal(35;0.156)		1081					Q8NCI1|Q96H93|Q9NXQ8	Missense_Mutation	SNP	ENST00000334463.3	37	c.2873G>C	CCDS35329.1	.	.	.	.	.	.	.	.	.	.	C	4.839	0.155906	0.09236	.	.	ENSG00000186871	ENST00000373657;ENST00000334463	D;D	0.91295	-2.79;-2.82	5.58	-3.99	0.04069	.	.	.	.	.	T	0.77452	0.4132	N	0.08118	0	0.09310	N	1	B	0.22276	0.067	B	0.21360	0.034	T	0.63950	-0.6521	9	0.59425	D	0.04	0.3227	7.7224	0.28740	0.1553:0.6117:0.0:0.233	.	1081	Q2NKX8	ERC6L_HUMAN	T	958;1081	ENSP00000362761:S958T;ENSP00000334675:S1081T	ENSP00000334675:S1081T	S	-	2	0	ERCC6L	71342100	0.000000	0.05858	0.000000	0.03702	0.044000	0.14063	-0.471000	0.06631	-0.763000	0.04658	-0.390000	0.06520	AGT		0.388	ERCC6L-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057174.2	NM_017669		9	60	0	0	0	1	0	9	60					G	71425375	C	G	71425375	3	3	353	1	0	0	0	0	1	0	0	0	5218	565	20	5	514	5	ERCC6L	23	71425375	Missense_Mutation	SNP	C	TCGA-M7-A721-01A-12D-A32B-08	48407084	71425375	83845185	46	17767											
RPL11	6135	broad.mit.edu	37	chr1	24021277	24021277	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tatctacggcctggacttctAtgtggtatgaatatttaatc	10	16	8	7	1	2	1	0	1	2	0	3	2	2	2	1	3	1	1	1	3	7	8			TCGA-M7-A722-01A-12D-A364-08	TCGA-M7-A722-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	381e0605-cb54-4ef9-96da-4b9f3ce37cff	14d6a96e-cd7c-4429-adb8-2a6c9ddf22c3	g.chr1:24021277A>G	ENST00000374550.3	+	4	437	c.392A>G	c.(391-393)tAt>tGt	p.Y131C	RPL11_ENST00000482370.1_3'UTR	NM_000975.3|NM_001199802.1	NP_000966.2|NP_001186731.1	P62913	RL11_HUMAN	ribosomal protein L11	131					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|protein localization to nucleus (GO:0034504)|protein targeting (GO:0006605)|ribosomal large subunit biogenesis (GO:0042273)|RNA metabolic process (GO:0016070)|rRNA processing (GO:0006364)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|rRNA binding (GO:0019843)|structural constituent of ribosome (GO:0003735)			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(2)	6		Colorectal(325;3.46e-05)|Lung NSC(340;0.000112)|all_lung(284;0.00016)|Renal(390;0.000219)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;2.13e-24)|Colorectal(126;5.06e-08)|COAD - Colon adenocarcinoma(152;2.92e-06)|GBM - Glioblastoma multiforme(114;4.4e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000954)|KIRC - Kidney renal clear cell carcinoma(1967;0.00322)|STAD - Stomach adenocarcinoma(196;0.0124)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0837)|LUSC - Lung squamous cell carcinoma(448;0.185)		CTGGACTTCTATGTGGTATGA	0.423																																						ENST00000374550.3																			0				central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(2)	6						c.(391-393)tAt>tGt		ribosomal protein L11							133	127	129					1																	24021277		2203	4300	6503	SO:0001583	missense	6135				endocrine pancreas development|protein localization to nucleus|protein targeting|ribosomal large subunit biogenesis|rRNA processing|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|nucleolus	protein binding|rRNA binding|structural constituent of ribosome	g.chr1:24021277A>G	L05092	CCDS238.1	1p36.1-p35	2011-04-06			ENSG00000142676	ENSG00000142676		"L ribosomal proteins"	10301	protein-coding gene	gene with protein product		604175				9582194, 10343117	Standard	NM_000975		Approved	L11	uc001bhk.3	P62913	OTTHUMG00000002926	ENST00000374550.3:c.392A>G	1.37:g.24021277A>G	ENSP00000363676:p.Tyr131Cys					RPL11_ENST00000482370.1_3'UTR	p.Y131C	NM_000975.3|NM_001199802.1	NP_000966.2|NP_001186731.1	P62913	RL11_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;2.13e-24)|Colorectal(126;5.06e-08)|COAD - Colon adenocarcinoma(152;2.92e-06)|GBM - Glioblastoma multiforme(114;4.4e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000954)|KIRC - Kidney renal clear cell carcinoma(1967;0.00322)|STAD - Stomach adenocarcinoma(196;0.0124)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0837)|LUSC - Lung squamous cell carcinoma(448;0.185)	4	437	+		Colorectal(325;3.46e-05)|Lung NSC(340;0.000112)|all_lung(284;0.00016)|Renal(390;0.000219)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)	131					P25121|P39026|Q8TDH2|Q9Y674	Missense_Mutation	SNP	ENST00000374550.3	37	c.392A>G	CCDS238.1	.	.	.	.	.	.	.	.	.	.	a	18.15	3.560486	0.65538	.	.	ENSG00000142676	ENST00000374550;ENST00000443624;ENST00000458455	T;T;T	0.77098	-1.07;-1.07;-1.07	5.94	4.81	0.61882	Ribosomal protein L5 domain (2);	0.056165	0.64402	D	0.000001	T	0.78502	0.4293	L	0.55834	1.745	0.80722	D	1	B;B	0.18013	0.009;0.025	B;B	0.38616	0.083;0.277	T	0.73395	-0.3996	10	0.38643	T	0.18	-1.8947	12.6046	0.56516	0.8757:0.0:0.0:0.1243	.	130;131	P62913-2;P62913	.;RL11_HUMAN	C	131;129;129	ENSP00000363676:Y131C;ENSP00000390839:Y129C;ENSP00000398888:Y129C	ENSP00000363676:Y131C	Y	+	2	0	RPL11	23893864	1.000000	0.71417	0.994000	0.49952	0.985000	0.73830	9.037000	0.93765	1.051000	0.40369	0.529000	0.55759	TAT		0.423	RPL11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008168.1	NM_000975		5	100	0	0	0	1	0	5	100					G	24021277	A	G	24021277	3	3	354	1	0	0	0	0	1	0	0	0	13557	449	16	4	406	4	RPL11	1	24021277	Missense_Mutation	SNP	A	TCGA-M7-A722-01A-12D-A364-08		24021277	225229344	1	17768											
SRRM1	10250	broad.mit.edu	37	chr1	24976513	24976513	+	Frame_Shift_Del	DEL	A	A	-																															agcaagatgaagacaaagatAaaagagataaggaagaaaaa																										TCGA-M7-A722-01A-12D-A364-08	TCGA-M7-A722-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	381e0605-cb54-4ef9-96da-4b9f3ce37cff	14d6a96e-cd7c-4429-adb8-2a6c9ddf22c3	g.chr1:24976513delA	ENST00000323848.9	+	5	772	c.457delA	c.(457-459)aaafs	p.K153fs	SRRM1_ENST00000374389.4_Frame_Shift_Del_p.K153fs|SRRM1_ENST00000537199.1_Frame_Shift_Del_p.K52fs|SRRM1_ENST00000447431.2_Frame_Shift_Del_p.K153fs|SRRM1_ENST00000479034.1_3'UTR	NM_005839.3	NP_005830.2	Q8IYB3	SRRM1_HUMAN	serine/arginine repetitive matrix 1	153	Necessary for mRNA 3'-end cleavage and cytoplasmic accumulation.				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	catalytic step 2 spliceosome (GO:0071013)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(2)|prostate(1)|urinary_tract(2)	36		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00125)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0422)|OV - Ovarian serous cystadenocarcinoma(117;1.01e-24)|Colorectal(126;5.95e-08)|COAD - Colon adenocarcinoma(152;3.24e-06)|GBM - Glioblastoma multiforme(114;0.000148)|BRCA - Breast invasive adenocarcinoma(304;0.00177)|KIRC - Kidney renal clear cell carcinoma(1967;0.00348)|STAD - Stomach adenocarcinoma(196;0.00483)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.138)		AGACAAAGATAAAAGAGATAA	0.358																																					Ovarian(68;897 1494 3282 17478)	ENST00000323848.9																			0				breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(2)|prostate(1)|urinary_tract(2)	36						c.(457-459)aafs		serine/arginine repetitive matrix 1							68	73	71					1																	24976513		2203	4300	6503	SO:0001589	frameshift_variant	10250				mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytosol|nuclear matrix|nuclear speck	DNA binding|protein binding|RNA binding	g.chr1:24976513delA	AF048977	CCDS255.1	1p36	2010-04-22			ENSG00000133226	ENSG00000133226			16638	protein-coding gene	gene with protein product	"Ser/Arg-related nuclear matrix protein", "plenty of prolines 101-like"	605975				9531537	Standard	NM_005839		Approved	SRM160, POP101, MGC39488	uc001bjm.3	Q8IYB3	OTTHUMG00000003320	ENST00000323848.9:c.457delA	1.37:g.24976513delA	ENSP00000326261:p.Lys153fs					SRRM1_ENST00000374389.4_Frame_Shift_Del_p.K153fs|SRRM1_ENST00000479034.1_3'UTR|SRRM1_ENST00000447431.2_Frame_Shift_Del_p.K153fs|SRRM1_ENST00000537199.1_Frame_Shift_Del_p.K52fs	p.K153fs	NM_005839.3	NP_005830.2	Q8IYB3	SRRM1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0422)|OV - Ovarian serous cystadenocarcinoma(117;1.01e-24)|Colorectal(126;5.95e-08)|COAD - Colon adenocarcinoma(152;3.24e-06)|GBM - Glioblastoma multiforme(114;0.000148)|BRCA - Breast invasive adenocarcinoma(304;0.00177)|KIRC - Kidney renal clear cell carcinoma(1967;0.00348)|STAD - Stomach adenocarcinoma(196;0.00483)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.138)	5	772	+		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00125)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)	153			Necessary for mRNA 3'-end cleavage and cytoplasmic accumulation.		O60585|Q5VVN4	Frame_Shift_Del	DEL	ENST00000323848.9	37	c.457delA	CCDS255.1																																																																																				0.358	SRRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009292.2	NM_005839		8	7						8	7	---	---	---	---	-	24976513	A	-	24976513	7	5	354	1	0	1	0	1	0	0	0	0	15167	363	13	0	475	0	SRRM1	1	24976513	Frame_Shift_Del	DEL	A	TCGA-M7-A722-01A-12D-A364-08	955236	24976513	224274108	2	17769											
SEPN1	57190	broad.mit.edu	37	chr1	26139203	26139203	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctacttgccgttcactgaggCcttcgaccgagccaaggctg	7	9	11	14	3	1	1	1	1	0	0	2	3	1	1	4	2	3	2	4	2	2	4			TCGA-M7-A722-01A-12D-A364-08	TCGA-M7-A722-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	381e0605-cb54-4ef9-96da-4b9f3ce37cff	14d6a96e-cd7c-4429-adb8-2a6c9ddf22c3	g.chr1:26139203C>T	ENST00000374315.1	+	9	1243	c.1205C>T	c.(1204-1206)gCc>gTc	p.A402V	SEPN1_ENST00000361547.2_Missense_Mutation_p.A436V|RP1-317E23.6_ENST00000527604.1_5'Flank|SEPN1_ENST00000354177.4_Missense_Mutation_p.A402V	NM_206926.1	NP_996809.1	Q9NZV5	SELN_HUMAN	selenoprotein N, 1	436						endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)	calcium ion binding (GO:0005509)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	19		Colorectal(325;3.46e-05)|Lung NSC(340;0.00038)|all_lung(284;0.00051)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0505)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0421)|OV - Ovarian serous cystadenocarcinoma(117;1.26e-25)|Colorectal(126;3.01e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|BRCA - Breast invasive adenocarcinoma(304;0.00099)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0143)|READ - Rectum adenocarcinoma(331;0.0649)		TTCACTGAGGCCTTCGACCGA	0.627																																						ENST00000361547.2																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	19						c.(1306-1308)gCc>gTc		selenoprotein N, 1							42	46	45					1																	26139203		2053	4184	6237	SO:0001583	missense	57190					endoplasmic reticulum membrane|extracellular region	protein binding	g.chr1:26139203C>T	AF166125	CCDS41282.1, CCDS41283.1	1p36.13	2014-09-17	2004-02-13		ENSG00000162430	ENSG00000162430		"EF-hand domain containing"	15999	protein-coding gene	gene with protein product		606210	"rigid spine muscular dystrophy 1"	RSMD1, MDRS1		10608886	Standard	NM_020451		Approved	selN, RSS	uc021ojl.1	Q9NZV5	OTTHUMG00000007375	ENST00000374315.1:c.1205C>T	1.37:g.26139203C>T	ENSP00000363434:p.Ala402Val					SEPN1_ENST00000374315.1_Missense_Mutation_p.A402V|SEPN1_ENST00000354177.4_Missense_Mutation_p.A402V	p.A436V	NM_020451.2	NP_065184.2	Q9NZV5	SELN_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0421)|OV - Ovarian serous cystadenocarcinoma(117;1.26e-25)|Colorectal(126;3.01e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|BRCA - Breast invasive adenocarcinoma(304;0.00099)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0143)|READ - Rectum adenocarcinoma(331;0.0649)	10	1362	+		Colorectal(325;3.46e-05)|Lung NSC(340;0.00038)|all_lung(284;0.00051)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0505)	436					A6NJG8|A8MQ64|Q6PI70|Q969F6|Q9NUI6	Missense_Mutation	SNP	ENST00000374315.1	37	c.1307C>T	CCDS41283.1	.	.	.	.	.	.	.	.	.	.	C	28.7	4.942475	0.92526	.	.	ENSG00000162430	ENST00000361547;ENST00000354177;ENST00000374315	D;D;D	0.92699	-3.09;-3.07;-3.07	5.32	5.32	0.75619	.	0.104988	0.64402	D	0.000004	D	0.95683	0.8596	M	0.68952	2.095	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.85130	0.997;0.994	D	0.95909	0.8921	10	0.72032	D	0.01	-14.6664	18.9918	0.92796	0.0:1.0:0.0:0.0	.	402;436	Q9NZV5-2;Q9NZV5	.;SELN_HUMAN	V	436;402;402	ENSP00000355141:A436V;ENSP00000346109:A402V;ENSP00000363434:A402V	ENSP00000346109:A402V	A	+	2	0	SEPN1	26011790	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	7.783000	0.85696	2.489000	0.83994	0.462000	0.41574	GCC		0.627	SEPN1-002	KNOWN	basic|appris_candidate_longest|CCDS|seleno	protein_coding	protein_coding	OTTHUMT00000019315.2	NM_020451		8	18	0	0	0	1	0	8	18					T	26139203	C	T	26139203	3	4	354	1	0	0	0	0	1	0	0	0	14056	739	26	3	1345	3	SEPN1	1	26139203	Missense_Mutation	SNP	C	TCGA-M7-A722-01A-12D-A364-08	1162690	26139203	223111418	3	17770											
SIPA1L2	57568	broad.mit.edu	37	chr1	232596796	232596796	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gccagccttccaggcaaagcCaaaaggttccacatctgcga	12	6	9	14	1	1	0	0	0	1	0	3	1	3	0	5	2	3	2	5	2	3	2			TCGA-M7-A722-01A-12D-A364-08	TCGA-M7-A722-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	381e0605-cb54-4ef9-96da-4b9f3ce37cff	14d6a96e-cd7c-4429-adb8-2a6c9ddf22c3	g.chr1:232596796C>T	ENST00000366630.1	-	9	3290	c.2932G>A	c.(2932-2934)Ggc>Agc	p.G978S	SIPA1L2_ENST00000308942.4_Missense_Mutation_p.G52S|SIPA1L2_ENST00000262861.4_Missense_Mutation_p.G978S			Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like 2	978	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				regulation of small GTPase mediated signal transduction (GO:0051056)		GTPase activator activity (GO:0005096)			NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				CAGGCAAAGCCAAAAGGTTCC	0.572																																						ENST00000366630.1																			0				NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103						c.(2932-2934)Ggc>Agc		signal-induced proliferation-associated 1 like 2							92	103	99					1																	232596796		2188	4292	6480	SO:0001583	missense	57568				regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity	g.chr1:232596796C>T	AB037810	CCDS41474.1	1q42.2	2008-02-05			ENSG00000116991	ENSG00000116991			23800	protein-coding gene	gene with protein product		611609					Standard	NM_020808		Approved	KIAA1389	uc001hvg.3	Q9P2F8	OTTHUMG00000037820	ENST00000366630.1:c.2932G>A	1.37:g.232596796C>T	ENSP00000355589:p.Gly978Ser					SIPA1L2_ENST00000262861.4_Missense_Mutation_p.G978S|SIPA1L2_ENST00000308942.4_Missense_Mutation_p.G52S	p.G978S			Q9P2F8	SI1L2_HUMAN			9	3290	-		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)	978			PDZ.		Q2TV88|Q5VXR7|Q5VXR8|Q641Q4|Q8NA38|Q96DZ3|Q9H9F6	Missense_Mutation	SNP	ENST00000366630.1	37	c.2932G>A	CCDS41474.1	.	.	.	.	.	.	.	.	.	.	C	36	5.717413	0.96839	.	.	ENSG00000116991	ENST00000366630;ENST00000262861;ENST00000308942	T;T;T	0.40756	1.02;1.02;1.02	5.64	5.64	0.86602	PDZ/DHR/GLGF (4);	0.000000	0.85682	D	0.000000	T	0.60222	0.2252	L	0.42686	1.345	0.80722	D	1	D;D	0.89917	1.0;0.987	D;D	0.91635	0.999;0.969	T	0.59043	-0.7528	10	0.62326	D	0.03	-28.391	20.0627	0.97684	0.0:1.0:0.0:0.0	.	978;52	Q9P2F8;Q9P2F8-2	SI1L2_HUMAN;.	S	978;978;52	ENSP00000355589:G978S;ENSP00000262861:G978S;ENSP00000309102:G52S	ENSP00000262861:G978S	G	-	1	0	SIPA1L2	230663419	1.000000	0.71417	0.998000	0.56505	0.993000	0.82548	7.776000	0.85560	2.816000	0.96949	0.563000	0.77884	GGC		0.572	SIPA1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092318.1	XM_045839		5	70	0	0	0	1	0	5	70					T	232596796	C	T	232596796	3	4	354	1	0	0	0	0	1	0	0	0	14330	594	21	3	2292	3	SIPA1L2	1	232596796	Missense_Mutation	SNP	C	TCGA-M7-A722-01A-12D-A364-08	206457593	232596796	16653825	4	17771											
CLASP1	23332	broad.mit.edu	37	chr2	122176233	122176233	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cccgagcagggcttgtatctCggctgctctcacggctggta	5	10	13	13	3	2	0	1	0	2	0	4	1	2	0	1	4	2	7	1	4	2	3			TCGA-M7-A722-01A-12D-A364-08	TCGA-M7-A722-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	381e0605-cb54-4ef9-96da-4b9f3ce37cff	14d6a96e-cd7c-4429-adb8-2a6c9ddf22c3	g.chr2:122176233C>T	ENST00000263710.4	-	23	2674	c.2285G>A	c.(2284-2286)cGa>cAa	p.R762Q	CLASP1_ENST00000541859.1_Intron|CLASP1_ENST00000409078.3_Intron|CLASP1_ENST00000455322.2_Intron|CLASP1_ENST00000545861.1_Intron|CLASP1_ENST00000397587.3_Intron|CLASP1_ENST00000541377.1_Intron	NM_015282.2	NP_056097.1	Q7Z460	CLAP1_HUMAN	cytoplasmic linker associated protein 1	762	Interaction with microtubules, MAPRE1 and MAPRE3.|Ser-rich.				axon guidance (GO:0007411)|cell division (GO:0051301)|establishment of spindle orientation (GO:0051294)|establishment or maintenance of cell polarity (GO:0007163)|exit from mitosis (GO:0010458)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule anchoring (GO:0034453)|microtubule bundle formation (GO:0001578)|microtubule cytoskeleton organization (GO:0000226)|microtubule nucleation (GO:0007020)|microtubule organizing center organization (GO:0031023)|mitotic cell cycle (GO:0000278)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of microtubule polymerization or depolymerization (GO:0031111)	cell cortex (GO:0005938)|centrosomal corona (GO:0031592)|centrosome (GO:0005813)|cortical microtubule cytoskeleton (GO:0030981)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|kinetochore (GO:0000776)|kinetochore microtubule (GO:0005828)|membrane (GO:0016020)|spindle microtubule (GO:0005876)	kinetochore binding (GO:0043515)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)			NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)	47	Renal(3;0.0496)					GCTTGTATCTCGGCTGCTCTC	0.597																																						ENST00000263710.4																			0				NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)	47						c.(2284-2286)cGa>cAa		cytoplasmic linker associated protein 1							77	86	83					2																	122176233		2077	4197	6274	SO:0001583	missense	23332				axon guidance|cell division|establishment or maintenance of cell polarity|exit from mitosis|G2/M transition of mitotic cell cycle|microtubule anchoring|microtubule bundle formation|microtubule nucleation|microtubule organizing center organization|mitotic prometaphase|negative regulation of microtubule depolymerization	centrosomal corona|condensed chromosome kinetochore|cortical microtubule cytoskeleton|cytoplasmic microtubule|cytosol|Golgi apparatus|kinetochore microtubule	kinetochore binding|microtubule plus-end binding	g.chr2:122176233C>T	AB014522		2q14.2-q14.3	2013-01-18			ENSG00000074054	ENSG00000074054			17088	protein-coding gene	gene with protein product	"multiple asters 1"	605852				9734811, 10899121, 16914514	Standard	NM_015282		Approved	KIAA0622, MAST1	uc002tnc.3	Q7Z460	OTTHUMG00000153331	ENST00000263710.4:c.2285G>A	2.37:g.122176233C>T	ENSP00000263710:p.Arg762Gln					CLASP1_ENST00000455322.2_Intron|CLASP1_ENST00000397587.3_Intron|CLASP1_ENST00000409078.3_Intron|CLASP1_ENST00000541859.1_Intron|CLASP1_ENST00000541377.1_Intron|CLASP1_ENST00000545861.1_Intron	p.R762Q	NM_015282.2	NP_056097.1	Q7Z460	CLAP1_HUMAN			23	2674	-	Renal(3;0.0496)		762			Interaction with microtubules, MAPRE1 and MAPRE3.|Ser-rich.		B7ZLX3|O75118|Q2KHQ9|Q5H9P0|Q8N5B8|Q9BQT5	Missense_Mutation	SNP	ENST00000263710.4	37	c.2285G>A		.	.	.	.	.	.	.	.	.	.	C	34	5.332851	0.95758	.	.	ENSG00000074054	ENST00000263710	T	0.21361	2.01	5.88	5.88	0.94601	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.19446	0.0467	L	0.36672	1.1	0.80722	D	1	D	0.59357	0.985	B	0.38106	0.265	T	0.01202	-1.1420	10	0.40728	T	0.16	-12.6346	20.2314	0.98350	0.0:1.0:0.0:0.0	.	762	Q7Z460	CLAP1_HUMAN	Q	762	ENSP00000263710:R762Q	ENSP00000263710:R762Q	R	-	2	0	CLASP1	121892703	1.000000	0.71417	0.992000	0.48379	0.994000	0.84299	7.806000	0.86020	2.789000	0.95967	0.591000	0.81541	CGA		0.597	CLASP1-201	KNOWN	basic	protein_coding	protein_coding		NM_015282		26	54	0	0	0	1	0	26	54					T	122176233	C	T	122176233	3	4	354	1	0	0	0	0	1	0	0	0	3454	884	31	2	2427	2	CLASP1	2	122176233	Missense_Mutation	SNP	C	TCGA-M7-A722-01A-12D-A364-08		122176233	121023140	5	17772											
TTN	7273	broad.mit.edu	37	chr2	179417860	179417860	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttaacactcacagttgaagActtaggttcaccaactccat	13	12	5	11	0	2	2	2	1	0	1	3	2	3	2	2	1	2	2	2	1	4	5			TCGA-M7-A722-01A-12D-A364-08	TCGA-M7-A722-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	381e0605-cb54-4ef9-96da-4b9f3ce37cff	14d6a96e-cd7c-4429-adb8-2a6c9ddf22c3	g.chr2:179417860A>G	ENST00000591111.1	-	285	85068	c.84844T>C	c.(84844-84846)Tct>Cct	p.S28282P	TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.S20983P|TTN-AS1_ENST00000456053.1_RNA|RP11-65L3.2_ENST00000603415.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.S29923P|TTN_ENST00000460472.2_Missense_Mutation_p.S20858P|TTN_ENST00000342992.6_Missense_Mutation_p.S27355P|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.S21050P|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000585451.1_RNA			Q8WZ42	TITIN_HUMAN	titin	28282	Ig-like 131.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ACAGTTGAAGACTTAGGTTCA	0.418																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(89767-89769)Tct>Cct		titin							109	106	107					2																	179417860		1902	4122	6024	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179417860A>G	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.84844T>C	2.37:g.179417860A>G	ENSP00000465570:p.Ser28282Pro					TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.S28282P|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.S27355P|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.S20858P|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.S21050P|TTN_ENST00000359218.5_Missense_Mutation_p.S20983P|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000419746.1_RNA	p.S29923P	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		335	89991	-			28282			Fibronectin type-III 118.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.89767T>C		.	.	.	.	.	.	.	.	.	.	A	12.00	1.806323	0.31961	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.68903	-0.36;-0.36;-0.36;-0.36	5.39	5.39	0.77823	Immunoglobulin I-set (1);Fibronectin, type III (1);Immunoglobulin-like (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.80116	0.4564	M	0.92459	3.31	0.44685	D	0.997676	D;D;D;D	0.54397	0.966;0.966;0.966;0.966	P;P;P;P	0.52109	0.69;0.69;0.69;0.69	D	0.84916	0.0851	9	0.87932	D	0	.	11.466	0.50239	0.8654:0.0:0.0:0.1346	.	20858;20983;21050;28282	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	P	27355;20858;21050;20983;20855	ENSP00000343764:S27355P;ENSP00000434586:S20858P;ENSP00000340554:S21050P;ENSP00000352154:S20983P	ENSP00000340554:S21050P	S	-	1	0	TTN	179126106	1.000000	0.71417	1.000000	0.80357	0.817000	0.46193	5.761000	0.68801	2.163000	0.67991	0.533000	0.62120	TCT		0.418	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		31	35	0	0	0	1	0	31	35					G	179417860	A	G	179417860	3	3	354	1	0	0	0	0	1	0	0	0	16732	275	10	4	18324	4	TTN	2	179417860	Missense_Mutation	SNP	A	TCGA-M7-A722-01A-12D-A364-08	57241627	179417860	63781513	6	17773											
IDH1	3417	broad.mit.edu	37	chr2	209113113	209113113	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttgatccccataagcatgacGacctatgatgataggtttta	12	13	8	8	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	4	6	rs121913499		TCGA-M7-A722-01A-12D-A364-08	TCGA-M7-A722-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	381e0605-cb54-4ef9-96da-4b9f3ce37cff	14d6a96e-cd7c-4429-adb8-2a6c9ddf22c3	g.chr2:209113113G>A	ENST00000415913.1	-	4	775	c.394C>T	c.(394-396)Cgt>Tgt	p.R132C	IDH1_ENST00000345146.2_Missense_Mutation_p.R132C|IDH1_ENST00000446179.1_Missense_Mutation_p.R132C	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132C(446)|p.R132G(125)|p.R132S(106)|p.G131_R132>VL(1)|p.R132V(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		TAAGCATGACGACCTATGATG	0.398			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"isocitrate dehydrogenase 1 (NADP+), soluble"			O			gliobastoma		679	Substitution - Missense(678)|Complex - compound substitution(1)	p.R132C(446)|p.R132G(125)|p.R132S(106)|p.G131_R132>VL(1)|p.R132V(1)	haematopoietic_and_lymphoid_tissue(280)|central_nervous_system(181)|bone(177)|biliary_tract(21)|soft_tissue(12)|large_intestine(2)|skin(2)|autonomic_ganglia(1)|endometrium(1)|NS(1)|prostate(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)Cgt>Tgt		isocitrate dehydrogenase 1 (NADP+), soluble							81	74	76					2																	209113113		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113113G>A		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.394C>T	2.37:g.209113113G>A	ENSP00000390265:p.Arg132Cys					IDH1_ENST00000345146.2_Missense_Mutation_p.R132C|IDH1_ENST00000446179.1_Missense_Mutation_p.R132C	p.R132C			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	775	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.394C>T	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	G	24.6	4.550898	0.86127	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.87029	-2.2;-2.2;-2.2;-2.2	5.57	5.57	0.84162	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.94049	0.8093	H	0.99379	4.54	0.80722	D	1	B	0.29862	0.259	B	0.31245	0.126	D	0.94048	0.7315	10	0.87932	D	0	-20.0399	19.5341	0.95242	0.0:0.0:1.0:0.0	.	132	O75874	IDHC_HUMAN	C	132	ENSP00000260985:R132C;ENSP00000410513:R132C;ENSP00000390265:R132C;ENSP00000391075:R132C	ENSP00000260985:R132C	R	-	1	0	IDH1	208821358	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	7.074000	0.76791	2.616000	0.88540	0.555000	0.69702	CGT		0.398	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			30	50	0	0	0	1	0	30	50					A	209113113	G	A	209113113	3	1	354	1	0	0	0	0	1	0	0	0	7494	1058	37	2	878	2	IDH1	2	209113113	Missense_Mutation	SNP	G	TCGA-M7-A722-01A-12D-A364-08	29695253	209113113	34086260	7	17774											
CTNNB1	1499	broad.mit.edu	37	chr3	41266101	41266101	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gcaacagtcttacctggactCtggaatccattctggtgcca	9	11	9	12	0	3	0	0	0	3	0	4	2	4	2	3	3	3	1	3	3	3	2	rs121913416|rs121913400		TCGA-M7-A722-01A-12D-A364-08	TCGA-M7-A722-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	381e0605-cb54-4ef9-96da-4b9f3ce37cff	14d6a96e-cd7c-4429-adb8-2a6c9ddf22c3	g.chr3:41266101C>G	ENST00000349496.5	+	3	378	c.98C>G	c.(97-99)tCt>tGt	p.S33C	CTNNB1_ENST00000396183.3_Missense_Mutation_p.S33C|CTNNB1_ENST00000396185.3_Missense_Mutation_p.S33C|CTNNB1_ENST00000405570.1_Missense_Mutation_p.S33C|CTNNB1_ENST00000453024.1_Missense_Mutation_p.S26C	NM_001904.3	NP_001895.1	P35222	CTNB1_HUMAN	catenin (cadherin-associated protein), beta 1, 88kDa	33			Missing (in hepatocellular carcinoma). {ECO:0000269|PubMed:10435629}.|S -> F (in PTR, MDB and hepatocellular carcinoma). {ECO:0000269|PubMed:10192393, ECO:0000269|PubMed:10435629, ECO:0000269|PubMed:10666372}.|S -> L (in hepatocellular carcinoma). {ECO:0000269|PubMed:10435629}.|S -> Y (in colorectal cancer and PTR; enhances transactivation of target genes). {ECO:0000269|PubMed:10192393, ECO:0000269|PubMed:9065402}.		adherens junction assembly (GO:0034333)|androgen receptor signaling pathway (GO:0030521)|anterior/posterior axis specification (GO:0009948)|apoptotic process (GO:0006915)|bone resorption (GO:0045453)|branching involved in ureteric bud morphogenesis (GO:0001658)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|canonical Wnt signaling pathway involved in positive regulation of cardiac outflow tract cell proliferation (GO:0061324)|canonical Wnt signaling pathway involved in positive regulation of epithelial to mesenchymal transition (GO:0044334)|cell adhesion (GO:0007155)|cell fate specification (GO:0001708)|cell maturation (GO:0048469)|cell-matrix adhesion (GO:0007160)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to growth factor stimulus (GO:0071363)|cellular response to indole-3-methanol (GO:0071681)|cellular response to mechanical stimulus (GO:0071260)|central nervous system vasculogenesis (GO:0022009)|cytoskeletal anchoring at plasma membrane (GO:0007016)|determination of dorsal/ventral asymmetry (GO:0048262)|dorsal/ventral axis specification (GO:0009950)|ectoderm development (GO:0007398)|embryonic axis specification (GO:0000578)|embryonic digit morphogenesis (GO:0042733)|embryonic foregut morphogenesis (GO:0048617)|embryonic forelimb morphogenesis (GO:0035115)|embryonic heart tube development (GO:0035050)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal limb joint morphogenesis (GO:0036023)|endodermal cell fate commitment (GO:0001711)|endothelial tube morphogenesis (GO:0061154)|epithelial cell differentiation involved in prostate gland development (GO:0060742)|epithelial to mesenchymal transition (GO:0001837)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|fungiform papilla formation (GO:0061198)|gastrulation with mouth forming second (GO:0001702)|genitalia morphogenesis (GO:0035112)|glial cell fate determination (GO:0007403)|hair cell differentiation (GO:0035315)|hair follicle morphogenesis (GO:0031069)|hair follicle placode formation (GO:0060789)|hindbrain development (GO:0030902)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|layer formation in cerebral cortex (GO:0021819)|lens morphogenesis in camera-type eye (GO:0002089)|liver development (GO:0001889)|lung cell differentiation (GO:0060479)|lung induction (GO:0060492)|lung-associated mesenchyme development (GO:0060484)|male genitalia development (GO:0030539)|mesenchymal cell proliferation involved in lung development (GO:0060916)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|midgut development (GO:0007494)|muscle cell differentiation (GO:0042692)|myoblast differentiation (GO:0045445)|negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of heart induction by canonical Wnt signaling pathway (GO:0003136)|negative regulation of neuron death (GO:1901215)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein sumoylation (GO:0033234)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nephron tubule formation (GO:0072079)|neural plate development (GO:0001840)|neuron migration (GO:0001764)|odontogenesis of dentin-containing tooth (GO:0042475)|oocyte development (GO:0048599)|osteoclast differentiation (GO:0030316)|oviduct development (GO:0060066)|pancreas development (GO:0031016)|patterning of blood vessels (GO:0001569)|positive regulation of apoptotic process (GO:0043065)|positive regulation of branching involved in lung morphogenesis (GO:0061047)|positive regulation of determination of dorsal identity (GO:2000017)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of epithelial cell proliferation involved in prostate gland development (GO:0060769)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of fibroblast growth factor receptor signaling pathway (GO:0045743)|positive regulation of heparan sulfate proteoglycan biosynthetic process (GO:0010909)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein heterooligomerization (GO:0051291)|protein localization to cell surface (GO:0034394)|proximal/distal pattern formation (GO:0009954)|regulation of angiogenesis (GO:0045765)|regulation of calcium ion import (GO:0090279)|regulation of centriole-centriole cohesion (GO:0030997)|regulation of centromeric sister chromatid cohesion (GO:0070602)|regulation of fibroblast proliferation (GO:0048145)|regulation of myelination (GO:0031641)|regulation of nephron tubule epithelial cell differentiation (GO:0072182)|regulation of protein localization to cell surface (GO:2000008)|regulation of secondary heart field cardioblast proliferation (GO:0003266)|regulation of smooth muscle cell proliferation (GO:0048660)|regulation of T cell proliferation (GO:0042129)|renal inner medulla development (GO:0072053)|renal outer medulla development (GO:0072054)|renal vesicle formation (GO:0072033)|response to cadmium ion (GO:0046686)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|Schwann cell proliferation (GO:0014010)|single organismal cell-cell adhesion (GO:0016337)|smooth muscle cell differentiation (GO:0051145)|synapse organization (GO:0050808)|synaptic vesicle transport (GO:0048489)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tongue morphogenesis (GO:0043587)|trachea formation (GO:0060440)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	adherens junction (GO:0005912)|apical part of cell (GO:0045177)|basolateral plasma membrane (GO:0016323)|beta-catenin destruction complex (GO:0030877)|beta-catenin-TCF7L2 complex (GO:0070369)|catenin complex (GO:0016342)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cell periphery (GO:0071944)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|membrane (GO:0016020)|microvillus membrane (GO:0031528)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein-DNA complex (GO:0032993)|Scrib-APC-beta-catenin complex (GO:0034750)|synapse (GO:0045202)|tight junction (GO:0005923)|transcription factor complex (GO:0005667)|Z disc (GO:0030018)|zonula adherens (GO:0005915)	alpha-catenin binding (GO:0045294)|androgen receptor binding (GO:0050681)|cadherin binding (GO:0045296)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|estrogen receptor binding (GO:0030331)|I-SMAD binding (GO:0070411)|ion channel binding (GO:0044325)|kinase binding (GO:0019900)|nuclear hormone receptor binding (GO:0035257)|protein C-terminus binding (GO:0008022)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|R-SMAD binding (GO:0070412)|RNA polymerase II activating transcription factor binding (GO:0001102)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|SMAD binding (GO:0046332)|structural molecule activity (GO:0005198)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)	p.S33C(168)|p.S33F(97)|p.S33Y(60)|p.A5_A80del(53)|p.A5_Q143del(7)|p.A5_A80>D(7)|p.Q28_H134del(5)|p.S33L(4)|p.?(4)|p.V22_G38del(3)|p.W25_I140del(3)|p.T3_A126del(2)|p.S33N(2)|p.S23_S33del(2)|p.V22_S33del(2)|p.A5fs*7(2)|p.D32_S47del(2)|p.M5_N141>D(2)|p.L10_N141del(2)|p.A5_Y142>D(2)|p.Y30_S33del(2)|p.A5_Q143>E(1)|p.A13_R151del(1)|p.M14_S45del(1)|p.A20_N141del(1)|p.M1_A87del(1)|p.D11_Y142>H(1)|p.H24_G38del(1)|p.S23_I35del(1)|p.Y30_A97del(1)|p.W25_S33del(1)|p.V22_T102del(1)|p.A20_A80del(1)|p.V22_S71>A(1)|p.Q28_A43del(1)|p.A5_T59del(1)|p.D32fs*9(1)|p.A20_I35del(1)|p.M1_V173del(1)|p.E15_I140>V(1)|p.S23_A39del(1)|p.H24_M131del(1)|p.A21_A80del(1)|p.Y30_A80del(1)|p.A5_T40del(1)|p.S29_H36del(1)|p.A5_E54del(1)|p.W25_I35del(1)|p.S33_S37del(1)|p.M8_A80del(1)|p.P16_K133del(1)|p.V22_Y64del(1)|p.Q28_Q61del(1)|p.A20_S111del(1)|p.Y30_T40del(1)|p.D32_H36>D(1)|p.A5_I35del(1)|p.D32_H36del(1)	CTNNB1/PLAG1(60)	NS(4)|adrenal_gland(103)|biliary_tract(43)|bone(21)|breast(7)|central_nervous_system(260)|cervix(9)|endometrium(293)|eye(1)|haematopoietic_and_lymphoid_tissue(60)|kidney(202)|large_intestine(269)|liver(1010)|lung(63)|oesophagus(6)|ovary(106)|pancreas(126)|parathyroid(11)|pituitary(111)|pleura(2)|prostate(31)|salivary_gland(13)|skin(103)|small_intestine(17)|soft_tissue(792)|stomach(165)|thyroid(55)|upper_aerodigestive_tract(2)|urinary_tract(8)	3893				KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294)		TACCTGGACTCTGGAATCCAT	0.488	S33C(SKMEL1_SKIN)|S33F(SW1573_LUNG)|S33Y(SW48_LARGE_INTESTINE)	15	"H, Mis, T"	PLAG1	"colorectal, cvarian,  hepatoblastoma, others, pleomorphic salivary adenoma"				Pilomatrixoma, Familial Clustering of																												Colon(6;3 56 14213 18255)	ENST00000349496.5	S33C(SKMEL1_SKIN)|S33F(SW1573_LUNG)|S33Y(SW48_LARGE_INTESTINE)	15		Dom	yes		3	3p22-p21.3	1499	"H, Mis, T"	"catenin (cadherin-associated protein), beta 1"			"E, M, O"	PLAG1		"colorectal, cvarian,  hepatoblastoma, others, pleomorphic salivary adenoma"	CTNNB1/PLAG1(60)	468	Substitution - Missense(331)|Deletion - In frame(111)|Complex - deletion inframe(16)|Unknown(7)|Deletion - Frameshift(3)	p.S33C(168)|p.S33F(97)|p.S33Y(60)|p.A5_A80del(53)|p.A5_Q143del(7)|p.A5_A80>D(7)|p.Q28_H134del(5)|p.S33L(4)|p.?(4)|p.V22_G38del(3)|p.W25_I140del(3)|p.T3_A126del(2)|p.S33N(2)|p.S23_S33del(2)|p.V22_S33del(2)|p.A5fs*7(2)|p.D32_S47del(2)|p.M5_N141>D(2)|p.L10_N141del(2)|p.A5_Y142>D(2)|p.Y30_S33del(2)|p.A5_Q143>E(1)|p.A13_R151del(1)|p.M14_S45del(1)|p.A20_N141del(1)|p.M1_A87del(1)|p.D11_Y142>H(1)|p.H24_G38del(1)|p.S23_I35del(1)|p.Y30_A97del(1)|p.W25_S33del(1)|p.V22_T102del(1)|p.A20_A80del(1)|p.V22_S71>A(1)|p.Q28_A43del(1)|p.A5_T59del(1)|p.D32fs*9(1)|p.A20_I35del(1)|p.M1_V173del(1)|p.E15_I140>V(1)|p.S23_A39del(1)|p.H24_M131del(1)|p.A21_A80del(1)|p.Y30_A80del(1)|p.A5_T40del(1)|p.S29_H36del(1)|p.A5_E54del(1)|p.W25_I35del(1)|p.S33_S37del(1)|p.M8_A80del(1)|p.P16_K133del(1)|p.V22_Y64del(1)|p.Q28_Q61del(1)|p.A20_S111del(1)|p.Y30_T40del(1)|p.D32_H36>D(1)|p.A5_I35del(1)|p.D32_H36del(1)	liver(165)|central_nervous_system(82)|large_intestine(40)|endometrium(37)|stomach(32)|skin(21)|ovary(20)|pituitary(19)|pancreas(12)|lung(7)|biliary_tract(6)|soft_tissue(4)|bone(4)|breast(3)|prostate(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|parathyroid(2)|small_intestine(2)|thyroid(1)|NS(1)|urinary_tract(1)|adrenal_gland(1)	NS(4)|adrenal_gland(103)|biliary_tract(43)|bone(21)|breast(7)|central_nervous_system(260)|cervix(9)|endometrium(293)|eye(1)|haematopoietic_and_lymphoid_tissue(60)|kidney(202)|large_intestine(269)|liver(1010)|lung(63)|oesophagus(6)|ovary(106)|pancreas(126)|parathyroid(11)|pituitary(111)|pleura(2)|prostate(31)|salivary_gland(13)|skin(103)|small_intestine(17)|soft_tissue(792)|stomach(165)|thyroid(55)|upper_aerodigestive_tract(2)|urinary_tract(8)	3893						c.(97-99)tCt>tGt		catenin (cadherin-associated protein), beta 1, 88kDa	Lithium(DB01356)						92	77	82					3																	41266101		2203	4300	6503	SO:0001583	missense	1499	Pilomatrixoma, Familial Clustering of	Familial Cancer Database	Pilomatricoma, Familial Clustering of, Epithelioma Calcificans of Malherbe	adherens junction assembly|androgen receptor signaling pathway|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway involved in negative regulation of apoptosis|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell-cell adhesion|cell-matrix adhesion|cellular component disassembly involved in apoptosis|cellular response to growth factor stimulus|cellular response to indole-3-methanol|central nervous system vasculogenesis|cytoskeletal anchoring at plasma membrane|determination of dorsal/ventral asymmetry|dorsal/ventral axis specification|ectoderm development|embryonic axis specification|embryonic foregut morphogenesis|embryonic leg joint morphogenesis|endodermal cell fate commitment|endothelial tube morphogenesis|epithelial to mesenchymal transition|gastrulation with mouth forming second|glial cell fate determination|hair follicle morphogenesis|hair follicle placode formation|hindbrain development|liver development|lung cell differentiation|lung induction|lung-associated mesenchyme development|male genitalia development|mesenchymal cell proliferation involved in lung development|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of osteoclast differentiation|negative regulation of transcription from RNA polymerase II promoter|nephron tubule formation|odontogenesis of dentine-containing tooth|oocyte development|pancreas development|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of branching involved in lung morphogenesis|positive regulation of epithelial cell proliferation involved in prostate gland development|positive regulation of fibroblast growth factor receptor signaling pathway|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of muscle cell differentiation|positive regulation of osteoblast differentiation|positive regulation of transcription from RNA polymerase II promoter|protein localization at cell surface|proximal/distal pattern formation|regulation of angiogenesis|regulation of calcium ion import|regulation of centriole-centriole cohesion|regulation of centromeric sister chromatid cohesion|regulation of fibroblast proliferation|regulation of nephron tubule epithelial cell differentiation|regulation of protein localization at cell surface|regulation of smooth muscle cell proliferation|regulation of T cell proliferation|renal inner medulla development|renal outer medulla development|renal vesicle formation|response to drug|response to estradiol stimulus|Schwann cell proliferation|smooth muscle cell differentiation|synapse organization|synaptic vesicle transport|T cell differentiation in thymus|thymus development|trachea formation	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin-TCF7L2 complex|catenin complex|cell cortex|cell-substrate adherens junction|centrosome|dendritic shaft|desmosome|fascia adherens|internal side of plasma membrane|lamellipodium|lateral plasma membrane|microvillus membrane|perinuclear region of cytoplasm|protein-DNA complex|synapse|transcription factor complex|Z disc|zonula adherens	alpha-catenin binding|androgen receptor binding|cadherin binding|estrogen receptor binding|I-SMAD binding|ion channel binding|protein binding|protein C-terminus binding|protein kinase binding|protein phosphatase binding|R-SMAD binding|RPTP-like protein binding|signal transducer activity|specific RNA polymerase II transcription factor activity|structural molecule activity|transcription coactivator activity|transcription regulatory region DNA binding	g.chr3:41266101C>G	X87838	CCDS2694.1	3p21	2013-02-15	2002-08-29		ENSG00000168036	ENSG00000168036		"Armadillo repeat containing"	2514	protein-coding gene	gene with protein product		116806	"catenin (cadherin-associated protein), beta 1 (88kD)"	CTNNB		7829088	Standard	NM_001098210		Approved	beta-catenin, armadillo	uc003ckr.2	P35222	OTTHUMG00000131393	ENST00000349496.5:c.98C>G	3.37:g.41266101C>G	ENSP00000344456:p.Ser33Cys					CTNNB1_ENST00000396183.3_Missense_Mutation_p.S33C|CTNNB1_ENST00000453024.1_Missense_Mutation_p.S26C|CTNNB1_ENST00000405570.1_Missense_Mutation_p.S33C|CTNNB1_ENST00000396185.3_Missense_Mutation_p.S33C	p.S33C	NM_001904.3	NP_001895.1	P35222	CTNB1_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294)	3	378	+			33		Missing (in hepatocellular carcinoma).|S -> F (in PTR, MDB and hepatocellular carcinoma).|S -> L (in hepatocellular carcinoma).|S -> Y (in colorectal cancer and PTR; enhances transactivation of target genes).			A8K1L7|Q8NEW9|Q8NI94|Q9H391	Missense_Mutation	SNP	ENST00000349496.5	37	c.98C>G	CCDS2694.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.381716	0.82792	.	.	ENSG00000168036	ENST00000426215;ENST00000405570;ENST00000431914;ENST00000396183;ENST00000349496;ENST00000453024;ENST00000396185;ENST00000450969;ENST00000441708	T;T;T;T;T;T;T;T;T	0.51071	0.72;0.72;0.72;0.72;0.72;0.72;0.72;0.72;0.72	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	T	0.72053	0.3413	M	0.79614	2.46	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.74188	-0.3746	10	0.87932	D	0	-10.7796	19.9596	0.97236	0.0:1.0:0.0:0.0	.	33	P35222	CTNB1_HUMAN	C	26;33;33;33;33;26;33;33;33	ENSP00000400508:S26C;ENSP00000385604:S33C;ENSP00000412219:S33C;ENSP00000379486:S33C;ENSP00000344456:S33C;ENSP00000411226:S26C;ENSP00000379488:S33C;ENSP00000409302:S33C;ENSP00000401599:S33C	ENSP00000344456:S33C	S	+	2	0	CTNNB1	41241105	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.818000	0.86416	2.726000	0.93360	0.655000	0.94253	TCT		0.488	CTNNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254182.2	NM_001098210		14	29	0	0	0	1	0	14	29					G	41266101	C	G	41266101	3	3	354	1	0	0	0	0	1	0	0	0	4016	913	32	5	104	5	CTNNB1	3	41266101	Missense_Mutation	SNP	C	TCGA-M7-A722-01A-12D-A364-08		41266101	156756329	8	17775											
BSN	8927	broad.mit.edu	37	chr3	49700629	49700629	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acctgggtcgccatgaggccCggccccactctcagcccagc	6	5	11	19	2	1	1	1	1	1	0	3	1	1	1	6	3	2	0	6	3	0	0			TCGA-M7-A722-01A-12D-A364-08	TCGA-M7-A722-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	381e0605-cb54-4ef9-96da-4b9f3ce37cff	14d6a96e-cd7c-4429-adb8-2a6c9ddf22c3	g.chr3:49700629C>T	ENST00000296452.4	+	7	11152	c.11038C>T	c.(11038-11040)Cgg>Tgg	p.R3680W		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	3680					synaptic transmission (GO:0007268)	axon (GO:0030424)|cell junction (GO:0030054)|dendrite (GO:0030425)|neuron projection terminus (GO:0044306)|nucleus (GO:0005634)|presynaptic cytoskeletal matrix assembled at active zones (GO:0048788)	metal ion binding (GO:0046872)			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		CCATGAGGCCCGGCCCCACTC	0.667																																						ENST00000296452.4																			0				breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106						c.(11038-11040)Cgg>Tgg		bassoon presynaptic cytomatrix protein							54	56	55					3																	49700629		2202	4300	6502	SO:0001583	missense	8927				synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding	g.chr3:49700629C>T	AF052224	CCDS2800.1	3p21	2013-01-07	2013-01-07		ENSG00000164061	ENSG00000164061			1117	protein-coding gene	gene with protein product	"zinc finger protein 231", "neuronal double zinc finger protein"	604020	"bassoon (presynaptic cytomatrix protein)"	ZNF231		9806829, 10329005	Standard	NM_003458		Approved		uc003cxe.4	Q9UPA5	OTTHUMG00000133750	ENST00000296452.4:c.11038C>T	3.37:g.49700629C>T	ENSP00000296452:p.Arg3680Trp						p.R3680W	NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN		BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)	7	11152	+			3680					O43161|Q7LGH3	Missense_Mutation	SNP	ENST00000296452.4	37	c.11038C>T	CCDS2800.1	.	.	.	.	.	.	.	.	.	.	C	10.05	1.243130	0.22796	.	.	ENSG00000164061	ENST00000296452	T	0.21361	2.01	5.05	4.08	0.47627	.	0.265359	0.28459	N	0.015279	T	0.39835	0.1093	L	0.55481	1.735	0.44946	D	0.997966	D	0.89917	1.0	D	0.64687	0.928	T	0.31558	-0.9939	10	0.72032	D	0.01	-18.4539	15.7962	0.78412	0.1455:0.8545:0.0:0.0	.	3680	Q9UPA5	BSN_HUMAN	W	3680	ENSP00000296452:R3680W	ENSP00000296452:R3680W	R	+	1	2	BSN	49675633	0.999000	0.42202	1.000000	0.80357	0.993000	0.82548	2.626000	0.46460	2.334000	0.79466	0.591000	0.81541	CGG		0.667	BSN-001	KNOWN	NMD_exception|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000258164.1	NM_003458		10	14	0	0	0	1	0	10	14					T	49700629	C	T	49700629	3	4	354	1	0	0	0	0	1	0	0	0	1530	643	23	2	11064	2	BSN	3	49700629	Missense_Mutation	SNP	C	TCGA-M7-A722-01A-12D-A364-08	8434528	49700629	148321801	9	17776											
RFT1	91869	broad.mit.edu	37	chr3	53157857	53157857	+	Splice_Site	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttgagtaaagcagcgttagtCtgtaaatgaaagggagaaat	16	10	12	3	1	1	3	0	2	1	1	1	4	1	3	0	1	2	4	0	1	7	4			TCGA-M7-A722-01A-12D-A364-08	TCGA-M7-A722-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	381e0605-cb54-4ef9-96da-4b9f3ce37cff	14d6a96e-cd7c-4429-adb8-2a6c9ddf22c3	g.chr3:53157857C>G	ENST00000296292.3	-	3	211		c.e3-1		RFT1_ENST00000394738.3_Intron	NM_052859.3	NP_443091.1	Q96AA3	RFT1_HUMAN	RFT1 homolog (S. cerevisiae)						carbohydrate transport (GO:0008643)|cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	integral component of membrane (GO:0016021)	lipid transporter activity (GO:0005319)			NS(1)|breast(1)|kidney(1)|lung(5)|skin(2)|urinary_tract(2)	12				BRCA - Breast invasive adenocarcinoma(193;6.98e-05)|Kidney(197;0.0017)|KIRC - Kidney renal clear cell carcinoma(197;0.00192)|OV - Ovarian serous cystadenocarcinoma(275;0.104)		CAGCGTTAGTCTGTAAATGAA	0.493																																						ENST00000296292.3																			0				NS(1)|breast(1)|kidney(1)|lung(5)|skin(2)|urinary_tract(2)	12						c.e3-1		RFT1 homolog (S. cerevisiae)							61	61	61					3																	53157857		2203	4300	6503	SO:0001630	splice_region_variant	91869				carbohydrate transport|dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane	lipid transporter activity	g.chr3:53157857C>G	AJ318099	CCDS2869.1	3p21.1	2014-02-06	2005-01-26		ENSG00000163933	ENSG00000163933			30220	protein-coding gene	gene with protein product	"congenital disorder of glycosylation 1N"	611908	"RFT1, requiring fifty three 1 homolog (S. cerevisiae)"			12477932	Standard	NM_052859		Approved	CDG1N	uc003dgj.3	Q96AA3	OTTHUMG00000074035	ENST00000296292.3:c.150-1G>C	3.37:g.53157857C>G						RFT1_ENST00000394738.3_Intron		NM_052859.3	NP_443091.1	Q96AA3	RFT1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;6.98e-05)|Kidney(197;0.0017)|KIRC - Kidney renal clear cell carcinoma(197;0.00192)|OV - Ovarian serous cystadenocarcinoma(275;0.104)	3	211	-								Q96J03	Splice_Site	SNP	ENST00000296292.3	37		CCDS2869.1	.	.	.	.	.	.	.	.	.	.	C	19.18	3.777914	0.70107	.	.	ENSG00000163933	ENST00000296292;ENST00000467048	.	.	.	6.17	6.17	0.99709	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.7962	0.88572	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	RFT1	53132897	1.000000	0.71417	0.955000	0.39395	0.605000	0.37080	6.861000	0.75478	2.941000	0.99782	0.655000	0.94253	.		0.493	RFT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157136.2	NM_052859	Intron	14	29	0	0	0	1	0	14	29					G	53157857	C	G	53157857	5	3	354	1	0	0	0	0	0	0	1	0	13257	927	32	5	1520	5	RFT1	3	53157857	Splice_Site	SNP	C	TCGA-M7-A722-01A-12D-A364-08	3457228	53157857	144864573	10	17777											
MORC1	27136	broad.mit.edu	37	chr3	108698424	108698424	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgctttgagaagacgctggCgaagaagcaactttacaact	13	9	11	8	2	0	3	0	1	0	3	0	5	0	3	0	1	5	3	0	1	6	3			TCGA-M7-A722-01A-12D-A364-08	TCGA-M7-A722-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	381e0605-cb54-4ef9-96da-4b9f3ce37cff	14d6a96e-cd7c-4429-adb8-2a6c9ddf22c3	g.chr3:108698424C>A	ENST00000483760.1	-	23	2395	c.2352G>T	c.(2350-2352)tcG>tcT	p.S784S	MORC1_ENST00000232603.5_Silent_p.S805S					MORC family CW-type zinc finger 1									p.S805S(1)		breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						AAGACGCTGGCGAAGAAGCAA	0.418																																						ENST00000232603.5																			1	Substitution - coding silent(1)	p.S805S(1)	large_intestine(1)	breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						c.(2413-2415)tcG>tcT		MORC family CW-type zinc finger 1							114	111	112					3																	108698424		2203	4300	6503	SO:0001819	synonymous_variant	27136				cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding	g.chr3:108698424C>A	AF084946	CCDS2955.1	3q13	2011-10-26	2005-06-15	2005-06-15	ENSG00000114487	ENSG00000114487			7198	protein-coding gene	gene with protein product	"cancer/testis antigen 33"	603205	"microrchidia (mouse) homolog", "microrchidia homolog (mouse)"	MORC		10369865	Standard	NM_014429		Approved	ZCW6, CT33	uc003dxl.3	Q86VD1	OTTHUMG00000159209	ENST00000483760.1:c.2352G>T	3.37:g.108698424C>A						MORC1_ENST00000483760.1_Silent_p.S784S	p.S805S	NM_014429.3	NP_055244.3	Q86VD1	MORC1_HUMAN			24	2497	-			805						Silent	SNP	ENST00000483760.1	37	c.2415G>T																																																																																					0.418	MORC1-002	NOVEL	basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000353844.1			40	69	1	0	1.07121e-22	1	1.24492e-22	40	69					A	108698424	C	A	108698424	2	1	354	1	0	0	0	0	0	0	0	1	9701	755	27	5		5	MORC1	3	108698424	Silent	SNP	C	TCGA-M7-A722-01A-12D-A364-08	55540567	108698424	89324006	11	17778											
CCDC80	151887	broad.mit.edu	37	chr3	112358730	112358730	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tggccaacagcatagtgaaaCggggtcccattctccatgtc	10	9	10	12	1	1	1	0	1	1	0	4	1	2	1	3	3	3	1	3	3	3	2			TCGA-M7-A722-01A-12D-A364-08	TCGA-M7-A722-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	381e0605-cb54-4ef9-96da-4b9f3ce37cff	14d6a96e-cd7c-4429-adb8-2a6c9ddf22c3	g.chr3:112358730C>T	ENST00000206423.3	-	2	976	c.23G>A	c.(22-24)cGt>cAt	p.R8H	CCDC80_ENST00000439685.2_Missense_Mutation_p.R8H|CCDC80_ENST00000475181.1_5'UTR	NM_199511.1|NM_199512.1	NP_955805.1|NP_955806.1	Q76M96	CCD80_HUMAN	coiled-coil domain containing 80	8					extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	basement membrane (GO:0005604)|interstitial matrix (GO:0005614)	heparin binding (GO:0008201)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(21)|ovary(3)|pancreas(2)|prostate(4)	51						CATAGTGAAACGGGGTCCCAT	0.488																																						ENST00000206423.3																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(21)|ovary(3)|pancreas(2)|prostate(4)	51						c.(22-24)cGt>cAt		coiled-coil domain containing 80							50	47	48					3																	112358730		2203	4300	6503	SO:0001583	missense	151887							g.chr3:112358730C>T	AY333429	CCDS2968.1	3q13.2	2010-12-24			ENSG00000091986	ENSG00000091986			30649	protein-coding gene	gene with protein product	"steroid sensitive gene 1"	608298				15325258, 18178152	Standard	XM_005247135		Approved	URB, SSG1, DRO1	uc003dzf.3	Q76M96	OTTHUMG00000159265	ENST00000206423.3:c.23G>A	3.37:g.112358730C>T	ENSP00000206423:p.Arg8His					CCDC80_ENST00000475181.1_5'UTR|CCDC80_ENST00000439685.2_Missense_Mutation_p.R8H	p.R8H	NM_199511.1|NM_199512.1	NP_955805.1|NP_955806.1	Q76M96	CCD80_HUMAN			2	976	-			8					D3DN67|Q5PR20|Q6GPG9|Q8IVT6|Q8NBV1|Q8NHY8	Missense_Mutation	SNP	ENST00000206423.3	37	c.23G>A	CCDS2968.1	.	.	.	.	.	.	.	.	.	.	C	7.813	0.716055	0.15306	.	.	ENSG00000091986	ENST00000206423;ENST00000439685;ENST00000444594	T;T	0.43294	0.95;0.95	5.35	3.55	0.40652	.	0.578284	0.18998	N	0.125416	T	0.19366	0.0465	N	0.03608	-0.345	0.09310	N	1	B;B;B	0.09022	0.002;0.0;0.0	B;B;B	0.04013	0.001;0.0;0.0	T	0.15235	-1.0444	10	0.36615	T	0.2	-9.0E-4	8.7386	0.34543	0.0:0.7688:0.0:0.2312	.	19;8;8	Q76M96-2;A3KC71;Q76M96	.;.;CCD80_HUMAN	H	8	ENSP00000206423:R8H;ENSP00000411814:R8H	ENSP00000206423:R8H	R	-	2	0	CCDC80	113841420	0.959000	0.32827	0.049000	0.19019	0.849000	0.48306	1.974000	0.40559	0.809000	0.34255	-0.143000	0.13931	CGT		0.488	CCDC80-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354219.1	NM_199511		18	31	0	0	0	1	0	18	31					T	112358730	C	T	112358730	3	4	354	1	0	0	0	0	1	0	0	0	2854	536	19	1	2857	1	CCDC80	3	112358730	Missense_Mutation	SNP	C	TCGA-M7-A722-01A-12D-A364-08	3660306	112358730	85663700	12	17779											
LRRIQ4	344657	broad.mit.edu	37	chr3	169539973	169539973	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aacctgaggagcctgtgcccGgcgctggggctgctgagcag	6	6	17	12	2	0	2	0	2	0	0	0	3	0	3	3	4	5	4	3	4	1	0			TCGA-M7-A722-01A-12D-A364-08	TCGA-M7-A722-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	381e0605-cb54-4ef9-96da-4b9f3ce37cff	14d6a96e-cd7c-4429-adb8-2a6c9ddf22c3	g.chr3:169539973G>A	ENST00000340806.6	+	1	264	c.264G>A	c.(262-264)ccG>ccA	p.P88P		NM_001080460.1	NP_001073929.1	A6NIV6	LRIQ4_HUMAN	leucine-rich repeats and IQ motif containing 4	88										breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	30						GCCTGTGCCCGGCGCTGGGGC	0.562																																						ENST00000340806.6																			0				breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	30						c.(262-264)ccG>ccA		leucine-rich repeats and IQ motif containing 4							67	73	72					3																	169539973		1916	4117	6033	SO:0001819	synonymous_variant	344657							g.chr3:169539973G>A		CCDS46951.1	3q26.2	2008-08-08	2008-06-12	2008-06-12	ENSG00000188306	ENSG00000188306			34298	protein-coding gene	gene with protein product	"leucine rich repeat containing 64"						Standard	NM_001080460		Approved	LRRC64	uc003fgb.3	A6NIV6	OTTHUMG00000164420	ENST00000340806.6:c.264G>A	3.37:g.169539973G>A							p.P88P	NM_001080460.1	NP_001073929.1	A6NIV6	LRIQ4_HUMAN			1	264	+			88						Silent	SNP	ENST00000340806.6	37	c.264G>A	CCDS46951.1																																																																																				0.562	LRRIQ4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378698.1	NM_001080460		36	55	0	0	0	1	0	36	55					A	169539973	G	A	169539973	2	1	354	1	0	0	0	0	0	0	0	1	9031	1103	39	2		2	LRRIQ4	3	169539973	Silent	SNP	G	TCGA-M7-A722-01A-12D-A364-08	57181243	169539973	28482457	13	17780											
KLHL6	89857	broad.mit.edu	37	chr3	183210395	183210395	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtcataacactgagtcttgTctgtggccagtttcccattg	7	14	10	10	0	3	1	1	1	2	0	4	1	4	1	2	2	1	1	2	2	1	4			TCGA-M7-A722-01A-12D-A364-08	TCGA-M7-A722-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	381e0605-cb54-4ef9-96da-4b9f3ce37cff	14d6a96e-cd7c-4429-adb8-2a6c9ddf22c3	g.chr3:183210395T>G	ENST00000341319.3	-	6	1486	c.1451A>C	c.(1450-1452)gAc>gCc	p.D484A		NM_130446.2	NP_569713.2	Q8WZ60	KLHL6_HUMAN	kelch-like family member 6	484					B cell receptor signaling pathway (GO:0050853)|germinal center formation (GO:0002467)					breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(7)|kidney(1)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	44	all_cancers(143;9.2e-12)|Ovarian(172;0.0172)		all cancers(12;1.29e-44)|Epithelial(37;1.24e-38)|LUSC - Lung squamous cell carcinoma(7;2.58e-24)|Lung(8;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.32e-22)			CTGAGTCTTGTCTGTGGCCAG	0.557																																						ENST00000341319.3																			0				breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(7)|kidney(1)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						c.(1450-1452)gAc>gCc		kelch-like family member 6							217	171	186					3																	183210395		2203	4300	6503	SO:0001583	missense	89857							g.chr3:183210395T>G	AF441792	CCDS3245.2	3q27.3	2013-01-30	2013-01-30		ENSG00000172578	ENSG00000172578		"Kelch-like", "BTB/POZ domain containing"	18653	protein-coding gene	gene with protein product	"kelch-like protein KLHL6"	614214	"kelch-like 6 (Drosophila)"			11214971, 12617994	Standard	NM_130446		Approved	FLJ00029	uc003flr.3	Q8WZ60	OTTHUMG00000148673	ENST00000341319.3:c.1451A>C	3.37:g.183210395T>G	ENSP00000341342:p.Asp484Ala						p.D484A	NM_130446.2	NP_569713.2	Q8WZ60	KLHL6_HUMAN	all cancers(12;1.29e-44)|Epithelial(37;1.24e-38)|LUSC - Lung squamous cell carcinoma(7;2.58e-24)|Lung(8;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.32e-22)		6	1486	-	all_cancers(143;9.2e-12)|Ovarian(172;0.0172)		484					B2RB31|D3DNS8|Q8N5I1|Q8N892	Missense_Mutation	SNP	ENST00000341319.3	37	c.1451A>C	CCDS3245.2	.	.	.	.	.	.	.	.	.	.	T	23.4	4.417666	0.83449	.	.	ENSG00000172578	ENST00000341319	T	0.79033	-1.23	4.88	4.88	0.63580	Kelch-type beta propeller (1);	0.136526	0.64402	D	0.000004	T	0.81451	0.4825	L	0.39566	1.225	0.48288	D	0.999621	D	0.57257	0.979	P	0.62298	0.9	T	0.81369	-0.0964	10	0.41790	T	0.15	.	14.7821	0.69774	0.0:0.0:0.0:1.0	.	484	Q8WZ60	KLHL6_HUMAN	A	484	ENSP00000341342:D484A	ENSP00000341342:D484A	D	-	2	0	KLHL6	184693089	1.000000	0.71417	0.986000	0.45419	0.984000	0.73092	7.655000	0.83696	1.959000	0.56917	0.482000	0.46254	GAC		0.557	KLHL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309024.1	NM_130446		23	40	0	0	0	1	0	23	40					G	183210395	T	G	183210395	3	3	354	1	0	0	0	0	1	0	0	0	8393	1667	58	5	422	5	KLHL6	3	183210395	Missense_Mutation	SNP	T	TCGA-M7-A722-01A-12D-A364-08	13670422	183210395	14812035	14	17781											
GRIA2	2891	broad.mit.edu	37	chr4	158257586	158257586	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttgtgagagaagaggtgattGacttctcaaagcccttcatg	11	12	11	7	0	2	5	2	3	1	2	3	6	2	5	1	1	1	0	1	1	2	4			TCGA-M7-A722-01A-12D-A364-08	TCGA-M7-A722-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	381e0605-cb54-4ef9-96da-4b9f3ce37cff	14d6a96e-cd7c-4429-adb8-2a6c9ddf22c3	g.chr4:158257586G>A	ENST00000264426.9	+	11	1810	c.1531G>A	c.(1531-1533)Gac>Aac	p.D511N	GRIA2_ENST00000393815.2_Missense_Mutation_p.D464N|GRIA2_ENST00000449365.1_Missense_Mutation_p.D464N|GRIA2_ENST00000507898.1_Missense_Mutation_p.D464N|GRIA2_ENST00000296526.7_Missense_Mutation_p.D511N	NM_001083619.1	NP_001077088	P42262	GRIA2_HUMAN	glutamate receptor, ionotropic, AMPA 2	511					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)|ionotropic glutamate receptor activity (GO:0004970)			NS(1)|breast(2)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(2)|lung(32)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	79	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0294)	Amobarbital(DB01351)|Aprobarbital(DB01352)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Methylphenobarbital(DB00849)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Primidone(DB00794)|Quinidine barbiturate(DB01346)|Secobarbital(DB00418)|Talbutal(DB00306)|Thiopental(DB00599)	AGAGGTGATTGACTTCTCAAA	0.413																																						ENST00000296526.7																			0				NS(1)|breast(2)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(2)|lung(32)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	79						c.(1531-1533)Gac>Aac		glutamate receptor, ionotropic, AMPA 2	L-Glutamic Acid(DB00142)						163	163	163					4																	158257586		2203	4300	6503	SO:0001583	missense	2891				synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|endoplasmic reticulum membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity	g.chr4:158257586G>A		CCDS3797.1, CCDS43274.1, CCDS43275.1	4q32.1	2012-08-29			ENSG00000120251	ENSG00000120251		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4572	protein-coding gene	gene with protein product		138247		GLUR2		1311100	Standard	NM_001083619		Approved	GluA2, GLURB	uc003ipl.4	P42262	OTTHUMG00000133836	ENST00000264426.9:c.1531G>A	4.37:g.158257586G>A	ENSP00000264426:p.Asp511Asn					GRIA2_ENST00000393815.2_Missense_Mutation_p.D464N|GRIA2_ENST00000449365.1_Missense_Mutation_p.D464N|GRIA2_ENST00000507898.1_Missense_Mutation_p.D464N|GRIA2_ENST00000264426.9_Missense_Mutation_p.D511N	p.D511N	NM_000826.3	NP_000817.2	P42262	GRIA2_HUMAN		COAD - Colon adenocarcinoma(41;0.0294)	11	1856	+	all_hematologic(180;0.24)	Renal(120;0.0458)	511					A8MT92|I6L997|Q96FP6	Missense_Mutation	SNP	ENST00000264426.9	37	c.1531G>A	CCDS43274.1	.	.	.	.	.	.	.	.	.	.	G	27.3	4.822323	0.90873	.	.	ENSG00000120251	ENST00000507898;ENST00000393815;ENST00000296526;ENST00000264426;ENST00000449365	T;T;T;T;T	0.45668	0.89;0.89;0.89;0.89;0.89	5.46	5.46	0.80206	Ionotropic glutamate receptor (1);	0.000000	0.85682	D	0.000000	T	0.67878	0.2940	M	0.77103	2.36	0.80722	D	1	B;D;D	0.76494	0.282;0.999;0.997	B;D;D	0.76071	0.083;0.987;0.98	T	0.70861	-0.4757	10	0.87932	D	0	.	19.6634	0.95882	0.0:0.0:1.0:0.0	.	511;511;464	P42262;P42262-2;A8MT92	GRIA2_HUMAN;.;.	N	464;464;511;511;464	ENSP00000426845:D464N;ENSP00000377403:D464N;ENSP00000296526:D511N;ENSP00000264426:D511N;ENSP00000389837:D464N	ENSP00000264426:D511N	D	+	1	0	GRIA2	158477036	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.813000	0.99286	2.720000	0.93068	0.655000	0.94253	GAC		0.413	GRIA2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000258367.2			64	72	0	0	0	1	0	64	72					A	158257586	G	A	158257586	3	1	354	1	0	0	0	0	1	0	0	0	6768	1290	45	3	1573	3	GRIA2	4	158257586	Missense_Mutation	SNP	G	TCGA-M7-A722-01A-12D-A364-08		158257586	32896690	15	17782											
TKTL2	84076	broad.mit.edu	37	chr4	164394648	164394648	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aagcagcatagaggataggaGcagcatgtcccctggagagg	13	5	15	8	0	0	2	0	0	0	2	1	5	1	4	2	4	4	4	2	4	3	2			TCGA-M7-A722-01A-12D-A364-08	TCGA-M7-A722-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	381e0605-cb54-4ef9-96da-4b9f3ce37cff	14d6a96e-cd7c-4429-adb8-2a6c9ddf22c3	g.chr4:164394648G>A	ENST00000280605.3	-	1	399	c.239C>T	c.(238-240)gCt>gTt	p.A80V		NM_032136.4	NP_115512.3	Q9H0I9	TKTL2_HUMAN	transketolase-like 2	80						cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|transketolase activity (GO:0004802)			breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(42)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	70	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				GAGGATAGGAGCAGCATGTCC	0.532																																						ENST00000280605.3																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(42)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	70						c.(238-240)gCt>gTt		transketolase-like 2							172	116	135					4																	164394648		2203	4300	6503	SO:0001583	missense	84076					cytoplasm	metal ion binding|transketolase activity	g.chr4:164394648G>A	BC028707	CCDS3805.1	4q32.2	2009-10-06			ENSG00000151005	ENSG00000151005			25313	protein-coding gene	gene with protein product	"similar to transketolase"					11230166	Standard	NM_032136		Approved	FLJ32975, DKFZP434L1717	uc003iqp.4	Q9H0I9	OTTHUMG00000161527	ENST00000280605.3:c.239C>T	4.37:g.164394648G>A	ENSP00000280605:p.Ala80Val						p.A80V	NM_032136.4	NP_115512.3	Q9H0I9	TKTL2_HUMAN			1	399	-	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)	80					A4FVB4|Q8NCT0|Q96M82	Missense_Mutation	SNP	ENST00000280605.3	37	c.239C>T	CCDS3805.1	.	.	.	.	.	.	.	.	.	.	G	13.30	2.196387	0.38806	.	.	ENSG00000151005	ENST00000280605	T	0.29397	1.57	4.02	3.18	0.36537	Transketolase, N-terminal (1);	0.000000	0.64402	D	0.000001	T	0.35219	0.0924	M	0.71206	2.165	0.52099	D	0.999944	P	0.44627	0.839	B	0.43331	0.416	T	0.33904	-0.9850	10	0.87932	D	0	-7.0095	10.2805	0.43537	0.0998:0.0:0.9002:0.0	.	80	Q9H0I9	TKTL2_HUMAN	V	80	ENSP00000280605:A80V	ENSP00000280605:A80V	A	-	2	0	TKTL2	164614098	0.997000	0.39634	0.021000	0.16686	0.011000	0.07611	4.224000	0.58593	1.274000	0.44362	-0.424000	0.05967	GCT		0.532	TKTL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365207.1	NM_032136		12	18	0	0	0	1	0	12	18					A	164394648	G	A	164394648	3	1	354	1	0	0	0	0	1	0	0	0	15933	971	34	3	1645	3	TKTL2	4	164394648	Missense_Mutation	SNP	G	TCGA-M7-A722-01A-12D-A364-08	6137062	164394648	26759628	16	17783											
ENPP4	22875	broad.mit.edu	37	chr6	46111175	46111175	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	aaaaccacatcccaataatgGgacctttggtcatactaagt	15	10	6	10	0	1	0	1	0	0	0	2	1	2	1	3	2	2	0	3	2	6	4			TCGA-M7-A722-01A-12D-A364-08	TCGA-M7-A722-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	381e0605-cb54-4ef9-96da-4b9f3ce37cff	14d6a96e-cd7c-4429-adb8-2a6c9ddf22c3	g.chr6:46111175G>T	ENST00000321037.4	+	4	1390	c.1160G>T	c.(1159-1161)gGg>gTg	p.G387V		NM_014936.4	NP_055751.1	Q9Y6X5	ENPP4_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 4 (putative)	387					blood coagulation (GO:0007596)|positive regulation of blood coagulation (GO:0030194)|purine ribonucleoside catabolic process (GO:0046130)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	bis(5'-adenosyl)-triphosphatase activity (GO:0047710)|metal ion binding (GO:0046872)			central_nervous_system(1)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	18						CCCAATAATGGGACCTTTGGT	0.423																																						ENST00000321037.4																			0				central_nervous_system(1)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	18						c.(1159-1161)gGg>gTg		ectonucleotide pyrophosphatase/phosphodiesterase 4 (putative)							168	154	159					6																	46111175		2203	4300	6503	SO:0001583	missense	22875					integral to membrane	hydrolase activity	g.chr6:46111175G>T	AB020686	CCDS34468.1	6p12.3	2010-06-24	2010-06-24		ENSG00000001561	ENSG00000001561			3359	protein-coding gene	gene with protein product						11027689	Standard	NM_014936		Approved	NPP4, KIAA0879	uc003oxy.3	Q9Y6X5	OTTHUMG00000014779	ENST00000321037.4:c.1160G>T	6.37:g.46111175G>T	ENSP00000318066:p.Gly387Val						p.G387V	NM_014936.4	NP_055751.1	Q9Y6X5	ENPP4_HUMAN			4	1390	+			387					A8K5G1|Q7L2N1	Missense_Mutation	SNP	ENST00000321037.4	37	c.1160G>T	CCDS34468.1	.	.	.	.	.	.	.	.	.	.	G	25.5	4.640781	0.87859	.	.	ENSG00000001561	ENST00000321037;ENST00000371401	D	0.87256	-2.23	5.7	5.7	0.88788	.	0.045920	0.85682	N	0.000000	D	0.96040	0.8710	H	0.96861	3.895	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.96937	0.9685	10	0.87932	D	0	-10.9634	19.8411	0.96685	0.0:0.0:1.0:0.0	.	387	Q9Y6X5	ENPP4_HUMAN	V	387	ENSP00000318066:G387V	ENSP00000318066:G387V	G	+	2	0	ENPP4	46219134	1.000000	0.71417	0.999000	0.59377	0.833000	0.47200	9.434000	0.97515	2.683000	0.91414	0.655000	0.94253	GGG		0.423	ENPP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040777.2			7	95	1	0	1.06961e-07	1	1.14983e-07	7	95					T	46111175	G	T	46111175	3	4	354	1	0	0	0	0	1	0	0	0	5132	1232	43	5	1170	5	ENPP4	6	46111175	Missense_Mutation	SNP	G	TCGA-M7-A722-01A-12D-A364-08		46111175	125003892	17	17784											
GPR6	2830	broad.mit.edu	37	chr6	110300979	110300979	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgcagcgtggtgcgcccgCtggcgcgcagccacgtggct	3	6	16	16	6	0	0	0	0	0	0	0	0	0	0	3	3	4	4	3	3	0	0			TCGA-M7-A722-01A-12D-A364-08	TCGA-M7-A722-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	381e0605-cb54-4ef9-96da-4b9f3ce37cff	14d6a96e-cd7c-4429-adb8-2a6c9ddf22c3	g.chr6:110300979C>G	ENST00000275169.3	+	1	682	c.664C>G	c.(664-666)Ctg>Gtg	p.L222V	GPR6_ENST00000414000.2_Missense_Mutation_p.L237V	NM_005284.3	NP_005275.1	P46095	GPR6_HUMAN	G protein-coupled receptor 6	222					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)			breast(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(1)|skin(1)	18		all_cancers(87;1.64e-05)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;2.83e-05)|all_lung(197;0.00016)|Lung NSC(302;0.000318)|Colorectal(196;0.0488)		BRCA - Breast invasive adenocarcinoma(108;8.01e-05)|Epithelial(106;8.76e-05)|all cancers(137;0.000197)|OV - Ovarian serous cystadenocarcinoma(136;0.0307)		GGTGCGCCCGCTGGCGCGCAG	0.697																																						ENST00000414000.2																			0				breast(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(1)|skin(1)	18						c.(709-711)Ctg>Gtg		G protein-coupled receptor 6							11	11	11					6																	110300979		2190	4245	6435	SO:0001583	missense	0					integral to plasma membrane		g.chr6:110300979C>G		CCDS5079.1, CCDS69172.1	6q21	2012-08-21				ENSG00000146360		"GPCR / Class A : Orphans"	4515	protein-coding gene	gene with protein product		600553				8530049	Standard	NM_001286099		Approved		uc003ptu.3	P46095	OTTHUMG00000015354	ENST00000275169.3:c.664C>G	6.37:g.110300979C>G	ENSP00000275169:p.Leu222Val					GPR6_ENST00000275169.3_Missense_Mutation_p.L222V	p.L237V			P46095	GPR6_HUMAN		BRCA - Breast invasive adenocarcinoma(108;8.01e-05)|Epithelial(106;8.76e-05)|all cancers(137;0.000197)|OV - Ovarian serous cystadenocarcinoma(136;0.0307)	3	948	+		all_cancers(87;1.64e-05)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;2.83e-05)|all_lung(197;0.00016)|Lung NSC(302;0.000318)|Colorectal(196;0.0488)	222					B4DHS9|J3KQR3|Q17RJ7|Q5SYL0	Missense_Mutation	SNP	ENST00000275169.3	37	c.709C>G	CCDS5079.1	.	.	.	.	.	.	.	.	.	.	C	16.72	3.202043	0.58234	.	.	ENSG00000146360	ENST00000428489;ENST00000414000;ENST00000275169	T;T	0.48201	0.82;0.82	4.83	4.83	0.62350	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000014	T	0.36880	0.0983	N	0.25201	0.72	0.54753	D	0.999981	D;P	0.67145	0.996;0.846	P;P	0.61658	0.892;0.557	T	0.26985	-1.0087	10	0.45353	T	0.12	.	9.188	0.37182	0.0:0.8672:0.0:0.1328	.	237;222	B4DHS9;P46095	.;GPR6_HUMAN	V	222;237;222	ENSP00000406986:L237V;ENSP00000275169:L222V	ENSP00000275169:L222V	L	+	1	2	GPR6	110407672	0.509000	0.26163	1.000000	0.80357	0.991000	0.79684	1.021000	0.30040	2.504000	0.84457	0.563000	0.77884	CTG		0.697	GPR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041774.1			8	3	0	0	0	1	0	8	3					G	110300979	C	G	110300979	3	3	354	1	0	0	0	0	1	0	0	0	6701	796	28	5	666	5	GPR6	6	110300979	Missense_Mutation	SNP	C	TCGA-M7-A722-01A-12D-A364-08	64189804	110300979	60814088	18	17785											
SORCS3	22986	broad.mit.edu	37	chr10	106927107	106927107	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tctgccagtcaggcatttgtGgtaaggagagctccctaccc	8	10	11	12	0	2	1	1	0	1	1	3	2	3	1	3	3	3	3	3	3	2	3			TCGA-M7-A722-01A-12D-A364-08	TCGA-M7-A722-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	381e0605-cb54-4ef9-96da-4b9f3ce37cff	14d6a96e-cd7c-4429-adb8-2a6c9ddf22c3	g.chr10:106927107G>T	ENST00000369701.3	+	13	2128	c.1901G>T	c.(1900-1902)tGg>tTg	p.W634L		NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	634					learning (GO:0007612)|memory (GO:0007613)|neuropeptide signaling pathway (GO:0007218)|regulation of long term synaptic depression (GO:1900452)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|neuronal postsynaptic density (GO:0097481)	neuropeptide receptor activity (GO:0008188)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		AGGCATTTGTGGTAAGGAGAG	0.458																																					NSCLC(116;1497 1690 7108 13108 14106)	ENST00000369701.3																			0				autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131						c.e13+1		sortilin-related VPS10 domain containing receptor 3							118	102	108					10																	106927107		2203	4300	6503	SO:0001630	splice_region_variant	22986					integral to membrane	neuropeptide receptor activity	g.chr10:106927107G>T	AB028982	CCDS7558.1	10q23-q25	2006-04-12			ENSG00000156395	ENSG00000156395			16699	protein-coding gene	gene with protein product		606285				11499680	Standard	NM_014978		Approved	KIAA1059, SORCS	uc001kyi.1	Q9UPU3	OTTHUMG00000019011	ENST00000369701.3:c.1901+1G>T	10.37:g.106927107G>T							p.W634_splice	NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)	13	2128	+		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)	634					Q5VXF9|Q9NQJ2	Splice_Site	SNP	ENST00000369701.3	37	c.1901_splice	CCDS7558.1	.	.	.	.	.	.	.	.	.	.	G	16.38	3.106007	0.56291	.	.	ENSG00000156395	ENST00000369701;ENST00000393176	T;T	0.39997	1.05;1.05	5.67	5.67	0.87782	VPS10 (1);	0.123193	0.64402	D	0.000014	T	0.55337	0.1914	L	0.33792	1.035	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	T	0.48186	-0.9057	9	.	.	.	.	19.3449	0.94359	0.0:0.0:1.0:0.0	.	634	Q9UPU3	SORC3_HUMAN	L	634;79	ENSP00000358715:W634L;ENSP00000376876:W79L	.	W	+	2	0	SORCS3	106917097	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.512000	0.90538	2.674000	0.91012	0.591000	0.81541	TGG		0.458	SORCS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050221.1	NM_014978	Missense_Mutation	19	25	1	0	9.7654e-05	1	0.000102418	19	25					T	106927107	G	T	106927107	5	4	354	1	0	0	0	0	0	0	1	0	14932	1362	47	5	1951	5	SORCS3	10	106927107	Splice_Site	SNP	G	TCGA-M7-A722-01A-12D-A364-08		106927107	28607640	19	17786											
DMBT1	1755	broad.mit.edu	37	chr10	124350193	124350193	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tctcacagctgcccagtcccGgtcgacgcccaggccaggtg	6	6	12	17	3	1	0	1	0	1	0	4	1	2	0	4	3	2	1	4	3	0	0			TCGA-M7-A722-01A-12D-A364-08	TCGA-M7-A722-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	381e0605-cb54-4ef9-96da-4b9f3ce37cff	14d6a96e-cd7c-4429-adb8-2a6c9ddf22c3	g.chr10:124350193G>A	ENST00000338354.3	+	18	2226	c.2120G>A	c.(2119-2121)cGg>cAg	p.R707Q	DMBT1_ENST00000359586.6_Intron|DMBT1_ENST00000344338.3_Missense_Mutation_p.R697Q|DMBT1_ENST00000330163.4_Intron|DMBT1_ENST00000368955.3_Missense_Mutation_p.R697Q|DMBT1_ENST00000368909.3_Missense_Mutation_p.R707Q|DMBT1_ENST00000368956.2_Intron			Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	707					defense response to virus (GO:0051607)|epithelial cell differentiation (GO:0030855)|induction of bacterial agglutination (GO:0043152)|innate immune response (GO:0045087)|inner cell mass cell proliferation (GO:0001833)|pattern recognition receptor signaling pathway (GO:0002221)|positive regulation of epithelial cell differentiation (GO:0030858)|protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)|viral process (GO:0016032)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|phagocytic vesicle membrane (GO:0030670)|proteinaceous extracellular matrix (GO:0005578)|zymogen granule membrane (GO:0042589)	calcium-dependent protein binding (GO:0048306)|scavenger receptor activity (GO:0005044)|signaling pattern recognition receptor activity (GO:0008329)|zymogen binding (GO:0035375)			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				GCCCAGTCCCGGTCGACGCCC	0.522																																					Ovarian(182;93 2026 18125 22222 38972)	ENST00000368909.3																			0				breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72						c.(2119-2121)cGg>cAg		deleted in malignant brain tumors 1							483	347	391					10																	124350193		1971	4096	6067	SO:0001583	missense	1755				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding	g.chr10:124350193G>A		CCDS44490.1, CCDS44491.1, CCDS44492.1	10q25.3-q26.1	2008-08-01			ENSG00000187908	ENSG00000187908			2926	protein-coding gene	gene with protein product		601969				9288095, 17548659	Standard	NM_004406		Approved	GP340, muclin	uc001lgk.1	Q9UGM3	OTTHUMG00000019185	ENST00000338354.3:c.2120G>A	10.37:g.124350193G>A	ENSP00000342210:p.Arg707Gln					DMBT1_ENST00000330163.4_Intron|DMBT1_ENST00000359586.6_Intron|DMBT1_ENST00000368956.2_Intron|DMBT1_ENST00000368955.3_Missense_Mutation_p.R697Q|DMBT1_ENST00000344338.3_Missense_Mutation_p.R697Q|DMBT1_ENST00000338354.3_Missense_Mutation_p.R707Q	p.R707Q	NM_007329.2	NP_015568.2	Q9UGM3	DMBT1_HUMAN			18	2226	+		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)	707					A6NDG4|A6NDJ5|A8E4R5|B1ARE7|B1ARE8|B1ARE9|B1ARF0|B7Z8Y2|F8WEF7|Q59EX0|Q5JR26|Q6MZN4|Q96DU4|Q9UGM2|Q9UJ57|Q9UKJ4|Q9Y211|Q9Y4V9	Missense_Mutation	SNP	ENST00000338354.3	37	c.2120G>A		.	.	.	.	.	.	.	.	.	.	g	0.012	-1.664548	0.00765	.	.	ENSG00000187908	ENST00000338354;ENST00000368915;ENST00000341278;ENST00000368953;ENST00000339871;ENST00000368942;ENST00000344338;ENST00000368909;ENST00000368955	T;T;T;T	0.39056	1.1;1.1;1.1;1.1	1.84	-3.68	0.04463	Speract/scavenger receptor-related (1);	.	.	.	.	T	0.15782	0.0380	N	0.08118	0	0.09310	N	1	B;B;B	0.33494	0.414;0.0;0.0	B;B;B	0.29176	0.099;0.0;0.0	T	0.06789	-1.0807	9	0.13470	T	0.59	.	5.5312	0.16985	0.3224:0.3101:0.3675:0.0	.	707;697;707	Q9UGM3-6;Q9UGM3-3;Q9UGM3	.;.;DMBT1_HUMAN	Q	707;707;707;707;707;707;697;707;697	ENSP00000342210:R707Q;ENSP00000343175:R697Q;ENSP00000357905:R707Q;ENSP00000357951:R697Q	ENSP00000342210:R707Q	R	+	2	0	DMBT1	124340183	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.512000	0.02258	-3.632000	0.00129	-4.116000	0.00011	CGG		0.522	DMBT1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000050792.2	NM_004406		86	128	0	0	0	1	0	86	128					A	124350193	G	A	124350193	3	1	354	1	0	0	0	0	1	0	0	0	4577	1116	39	2	2190	2	DMBT1	10	124350193	Missense_Mutation	SNP	G	TCGA-M7-A722-01A-12D-A364-08	17423086	124350193	11184554	20	17787											
OR52L1	338751	broad.mit.edu	37	chr11	6007227	6007227	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcggatctgctgagtcttcaCtccatagacaagaggattga	11	10	11	9	1	3	4	1	2	2	2	4	6	4	6	1	2	1	1	1	2	2	3			TCGA-M7-A722-01A-12D-A364-08	TCGA-M7-A722-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	381e0605-cb54-4ef9-96da-4b9f3ce37cff	14d6a96e-cd7c-4429-adb8-2a6c9ddf22c3	g.chr11:6007227C>T	ENST00000332249.4	-	1	988	c.934G>A	c.(934-936)Gtg>Atg	p.V312M		NM_001005173.2	NP_001005173.2	Q8NGH7	O52L1_HUMAN	olfactory receptor, family 52, subfamily L, member 1	312						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(11)|pancreas(1)|skin(3)|soft_tissue(1)	30		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.98e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGAGTCTTCACTCCATAGACA	0.493																																					Melanoma(121;653 1666 10547 22796 51255)	ENST00000332249.4																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(11)|pancreas(1)|skin(3)|soft_tissue(1)	30						c.(934-936)Gtg>Atg		olfactory receptor, family 52, subfamily L, member 1							57	57	57					11																	6007227		2057	4217	6274	SO:0001583	missense	338751				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:6007227C>T	AB065819	CCDS44529.1	11p15.4	2012-08-09			ENSG00000183313	ENSG00000183313		"GPCR / Class A : Olfactory receptors"	14785	protein-coding gene	gene with protein product							Standard	NM_001005173		Approved		uc001mcd.2	Q8NGH7	OTTHUMG00000165374	ENST00000332249.4:c.934G>A	11.37:g.6007227C>T	ENSP00000330338:p.Val312Met						p.V312M	NM_001005173.2	NP_001005173.2	Q8NGH7	O52L1_HUMAN		Epithelial(150;1.98e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	988	-		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)	312					B2RPA6|Q6IFK9	Missense_Mutation	SNP	ENST00000332249.4	37	c.934G>A	CCDS44529.1	.	.	.	.	.	.	.	.	.	.	C	2.638	-0.284856	0.05605	.	.	ENSG00000183313	ENST00000332249	T	0.38077	1.16	3.57	2.65	0.31530	.	0.000000	0.39475	N	0.001341	T	0.28366	0.0701	L	0.48174	1.505	0.31000	N	0.72048	B	0.18013	0.025	B	0.14578	0.011	T	0.25117	-1.0141	10	0.62326	D	0.03	.	7.0662	0.25154	0.0:0.7822:0.0:0.2178	.	312	Q8NGH7	O52L1_HUMAN	M	312	ENSP00000330338:V312M	ENSP00000330338:V312M	V	-	1	0	OR52L1	5963803	0.000000	0.05858	0.978000	0.43139	0.112000	0.19704	-0.245000	0.08890	0.829000	0.34733	0.313000	0.20887	GTG		0.493	OR52L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383754.1	NM_001005173		4	9	0	0	0	1	0	4	9					T	6007227	C	T	6007227	3	4	354	1	0	0	0	0	1	0	0	0	11125	565	20	3	59	3	OR52L1	11	6007227	Missense_Mutation	SNP	C	TCGA-M7-A722-01A-12D-A364-08		6007227	128999289	21	17788											
LDHAL6A	160287	broad.mit.edu	37	chr11	18497099	18497099	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gttgtaatctggactctgctCgttttcgttactttattggg	5	19	10	7	2	2	0	0	0	2	0	4	1	2	1	0	2	2	5	0	2	3	8	rs368803699		TCGA-M7-A722-01A-12D-A364-08	TCGA-M7-A722-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	381e0605-cb54-4ef9-96da-4b9f3ce37cff	14d6a96e-cd7c-4429-adb8-2a6c9ddf22c3	g.chr11:18497099C>T	ENST00000280706.2	+	4	1302	c.505C>T	c.(505-507)Cgt>Tgt	p.R169C	LDHAL6A_ENST00000396213.3_Missense_Mutation_p.R169C|TSG101_ENST00000536719.1_Intron	NM_144972.4	NP_659409.2	Q6ZMR3	LDH6A_HUMAN	lactate dehydrogenase A-like 6A	169					cellular carbohydrate metabolic process (GO:0044262)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	L-lactate dehydrogenase activity (GO:0004459)			large_intestine(3)|lung(9)|urinary_tract(1)	13						GGACTCTGCTCGTTTTCGTTA	0.453																																						ENST00000280706.2																			0				large_intestine(3)|lung(9)|urinary_tract(1)	13						c.(505-507)Cgt>Tgt		lactate dehydrogenase A-like 6A	NADH(DB00157)	C	CYS/ARG,CYS/ARG	1,4397	2.1+/-5.4	0,1,2198	189	173	178		505,505	0.7	0	11		178	0,8586		0,0,4293	no	missense,missense	LDHAL6A	NM_001144071.1,NM_144972.4	180,180	0,1,6491	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging,probably-damaging	169/333,169/333	18497099	1,12983	2199	4293	6492	SO:0001583	missense	160287				glycolysis	cytoplasm	binding|L-lactate dehydrogenase activity	g.chr11:18497099C>T	AK131523	CCDS7841.1	11p15.1	2011-01-27			ENSG00000166800	ENSG00000166800			28335	protein-coding gene	gene with protein product						12477932	Standard	NM_001144071		Approved	MGC23940, LDH6A	uc001mop.1	Q6ZMR3	OTTHUMG00000167724	ENST00000280706.2:c.505C>T	11.37:g.18497099C>T	ENSP00000280706:p.Arg169Cys					TSG101_ENST00000536719.1_Intron|LDHAL6A_ENST00000396213.3_Missense_Mutation_p.R169C	p.R169C	NM_144972.4	NP_659409.2	Q6ZMR3	LDH6A_HUMAN			4	1302	+			169					D3DQY5	Missense_Mutation	SNP	ENST00000280706.2	37	c.505C>T	CCDS7841.1	.	.	.	.	.	.	.	.	.	.	C	18.13	3.554421	0.65425	2.27E-4	0.0	ENSG00000166800	ENST00000396213;ENST00000280706	D;D	0.90676	-2.71;-2.71	4.05	0.722	0.18225	Lactate/malate dehydrogenase, C-terminal (1);Lactate dehydrogenase/glycoside hydrolase, family 4, C-terminal (2);	0.000000	0.64402	U	0.000001	D	0.96734	0.8934	H	0.99948	5.02	0.80722	D	1	D	0.65815	0.995	D	0.64321	0.924	D	0.92895	0.6334	10	0.66056	D	0.02	.	4.758	0.13093	0.1714:0.6183:0.0:0.2103	.	169	Q6ZMR3	LDH6A_HUMAN	C	169	ENSP00000379516:R169C;ENSP00000280706:R169C	ENSP00000280706:R169C	R	+	1	0	LDHAL6A	18453675	0.000000	0.05858	0.026000	0.17262	0.947000	0.59692	-0.014000	0.12656	0.693000	0.31634	0.491000	0.48974	CGT		0.453	LDHAL6A-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395904.1	NM_144972		46	53	0	0	0	1	0	46	53					T	18497099	C	T	18497099	3	4	354	1	0	0	0	0	1	0	0	0	8699	884	31	2	519	2	LDHAL6A	11	18497099	Missense_Mutation	SNP	C	TCGA-M7-A722-01A-12D-A364-08	12489872	18497099	116509417	22	17789											
LRRC4C	57689	broad.mit.edu	37	chr11	40136858	40136858	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	attgggaggagtgttacaccGggcacaacaagctgtgttcg	10	9	14	8	2	0	0	0	0	0	0	1	2	0	2	1	3	3	4	1	3	3	3			TCGA-M7-A722-01A-12D-A364-08	TCGA-M7-A722-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	381e0605-cb54-4ef9-96da-4b9f3ce37cff	14d6a96e-cd7c-4429-adb8-2a6c9ddf22c3	g.chr11:40136858G>A	ENST00000278198.2	-	2	2948	c.985C>T	c.(985-987)Cgg>Tgg	p.R329W	LRRC4C_ENST00000527150.1_Missense_Mutation_p.R329W|LRRC4C_ENST00000528697.1_Missense_Mutation_p.R329W|LRRC4C_ENST00000530763.1_Missense_Mutation_p.R329W			Q9HCJ2	LRC4C_HUMAN	leucine rich repeat containing 4C	329	LRRCT.				regulation of axonogenesis (GO:0050770)	cell junction (GO:0030054)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|postsynaptic membrane (GO:0045211)		p.R329W(1)		NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86		all_lung(304;0.0575)|Lung NSC(402;0.138)				GTGTTACACCGGGCACAACAA	0.502																																						ENST00000278198.2																			1	Substitution - Missense(1)	p.R329W(1)	lung(1)	NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86						c.(985-987)Cgg>Tgg		leucine rich repeat containing 4C							84	73	76					11																	40136858		2203	4300	6503	SO:0001583	missense	57689				regulation of axonogenesis	integral to membrane	protein binding	g.chr11:40136858G>A	AB046800	CCDS31464.1	11p12	2013-01-14				ENSG00000148948		"Immunoglobulin superfamily / I-set domain containing"	29317	protein-coding gene	gene with protein product		608817				14595443	Standard	NM_020929		Approved	KIAA1580, NGL-1	uc031pzu.1	Q9HCJ2		ENST00000278198.2:c.985C>T	11.37:g.40136858G>A	ENSP00000278198:p.Arg329Trp					LRRC4C_ENST00000528697.1_Missense_Mutation_p.R329W|LRRC4C_ENST00000530763.1_Missense_Mutation_p.R329W|LRRC4C_ENST00000527150.1_Missense_Mutation_p.R329W	p.R329W			Q9HCJ2	LRC4C_HUMAN			2	2948	-		all_lung(304;0.0575)|Lung NSC(402;0.138)	329			LRRCT.		A8K0T1|Q7L0N3	Missense_Mutation	SNP	ENST00000278198.2	37	c.985C>T	CCDS31464.1	.	.	.	.	.	.	.	.	.	.	G	14.59	2.580767	0.46006	.	.	ENSG00000148948	ENST00000278198;ENST00000527150;ENST00000528697;ENST00000530763	T;T;T;T	0.58506	0.33;0.33;0.33;0.33	5.76	1.56	0.23342	Cysteine-rich flanking region, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.80544	0.4643	M	0.94101	3.495	0.80722	D	1	D	0.89917	1.0	D	0.76575	0.988	D	0.84395	0.0557	10	0.66056	D	0.02	.	15.0044	0.71501	0.0:0.0:0.5439:0.456	.	329	Q9HCJ2	LRC4C_HUMAN	W	329	ENSP00000278198:R329W;ENSP00000436976:R329W;ENSP00000437132:R329W;ENSP00000434761:R329W	ENSP00000278198:R329W	R	-	1	2	LRRC4C	40093434	1.000000	0.71417	0.996000	0.52242	0.998000	0.95712	4.745000	0.62125	0.031000	0.15407	0.655000	0.94253	CGG		0.502	LRRC4C-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389499.1	NM_020929		21	22	0	0	0	1	0	21	22					A	40136858	G	A	40136858	3	1	354	1	0	0	0	0	1	0	0	0	9008	1115	39	2	941	2	LRRC4C	11	40136858	Missense_Mutation	SNP	G	TCGA-M7-A722-01A-12D-A364-08	21639759	40136858	94869658	23	17790											
PVRL1	5818	broad.mit.edu	37	chr11	119535462	119535462	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctctggaaggggggctacaCgtaccactccttcttggaaa	9	9	12	11	1	2	0	0	0	2	0	3	2	3	2	2	5	2	3	2	5	4	4			TCGA-M7-A722-01A-12D-A364-08	TCGA-M7-A722-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	381e0605-cb54-4ef9-96da-4b9f3ce37cff	14d6a96e-cd7c-4429-adb8-2a6c9ddf22c3	g.chr11:119535462C>A	ENST00000264025.3	-	6	2079	c.1549G>T	c.(1549-1551)Gtg>Ttg	p.V517L	PVRL1_ENST00000341398.2_Intron	NM_002855.4	NP_002846.3	Q15223	PVRL1_HUMAN	poliovirus receptor-related 1 (herpesvirus entry mediator C)	517					adherens junction organization (GO:0034332)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|desmosome organization (GO:0002934)|enamel mineralization (GO:0070166)|heterophilic cell-cell adhesion (GO:0007157)|homophilic cell adhesion (GO:0007156)|immune response (GO:0006955)|iron ion transport (GO:0006826)|lens morphogenesis in camera-type eye (GO:0002089)|regulation of synapse assembly (GO:0051963)|retina development in camera-type eye (GO:0060041)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|viral entry into host cell (GO:0046718)	adherens junction (GO:0005912)|axon (GO:0030424)|cell-cell adherens junction (GO:0005913)|extracellular region (GO:0005576)|growth cone membrane (GO:0032584)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886)|synapse (GO:0045202)	carbohydrate binding (GO:0030246)|cell adhesion molecule binding (GO:0050839)|coreceptor activity (GO:0015026)|protein homodimerization activity (GO:0042803)|virion binding (GO:0046790)|virus receptor activity (GO:0001618)			breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		Breast(348;0.037)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.29e-05)		GGGGGCTACACGTACCACTCC	0.627																																						ENST00000264025.3																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(1549-1551)Gtg>Ttg		poliovirus receptor-related 1 (herpesvirus entry mediator C)							32	32	32					11																	119535462		2199	4294	6493	SO:0001583	missense	5818				adherens junction organization|cell junction assembly|entry of virus into host cell|heterophilic cell-cell adhesion|homophilic cell adhesion|immune response	cell-cell adherens junction|extracellular region|integral to membrane	cell adhesion molecule binding|coreceptor activity|protein homodimerization activity	g.chr11:119535462C>A	X76400	CCDS8425.1, CCDS8426.1, CCDS8427.1	11q23-q24	2013-01-29	2007-06-07		ENSG00000110400	ENSG00000110400		"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	9706	protein-coding gene	gene with protein product	"nectin"	600644		HVEC, ED4		7721102, 9616127	Standard	NM_203285		Approved	PRR, PRR1, PVRR1, SK-12, HIgR, CLPED1, CD111, OFC7	uc001pwv.3	Q15223	OTTHUMG00000166177	ENST00000264025.3:c.1549G>T	11.37:g.119535462C>A	ENSP00000264025:p.Val517Leu					PVRL1_ENST00000341398.2_Intron	p.V517L	NM_002855.4	NP_002846.3	Q15223	PVRL1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.29e-05)	6	2079	-		Breast(348;0.037)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	517					O75465|Q2M3D3|Q9HBE6|Q9HBW2	Missense_Mutation	SNP	ENST00000264025.3	37	c.1549G>T	CCDS8426.1	.	.	.	.	.	.	.	.	.	.	c	25.4	4.629889	0.87660	.	.	ENSG00000110400	ENST00000264025	D	0.86956	-2.19	4.31	4.31	0.51392	.	0.000000	0.64402	D	0.000001	D	0.89986	0.6874	L	0.36672	1.1	0.80722	D	1	D	0.63880	0.993	D	0.71414	0.973	D	0.91456	0.5185	10	0.87932	D	0	.	16.6564	0.85229	0.0:1.0:0.0:0.0	.	517	Q15223	PVRL1_HUMAN	L	517	ENSP00000264025:V517L	ENSP00000264025:V517L	V	-	1	0	PVRL1	119040672	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	7.326000	0.79133	2.328000	0.79073	0.479000	0.44913	GTG		0.627	PVRL1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388231.1			3	27	1	0	0.115264	1	0.115264	3	27					A	119535462	C	A	119535462	3	1	354	1	0	0	0	0	1	0	0	0	12839	536	19	5	394	5	PVRL1	11	119535462	Missense_Mutation	SNP	C	TCGA-M7-A722-01A-12D-A364-08	79398604	119535462	15471054	24	17791											
ITPR2	3709	broad.mit.edu	37	chr12	26750054	26750054	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aaaatatcagcacgtcttcaCccccatttatcaactgaaat	15	11	3	12	1	4	1	3	1	1	0	4	1	4	1	2	0	2	1	2	0	6	4			TCGA-M7-A722-01A-12D-A364-08	TCGA-M7-A722-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	381e0605-cb54-4ef9-96da-4b9f3ce37cff	14d6a96e-cd7c-4429-adb8-2a6c9ddf22c3	g.chr12:26750054C>A	ENST00000381340.3	-	31	4432	c.4016G>T	c.(4015-4017)gGt>gTt	p.G1339V		NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	1339					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|cellular response to cAMP (GO:0071320)|cellular response to ethanol (GO:0071361)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|regulation of insulin secretion (GO:0050796)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	cell cortex (GO:0005938)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|receptor complex (GO:0043235)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion transmembrane transporter activity (GO:0015085)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|phosphatidylinositol binding (GO:0035091)		ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)				Caffeine(DB00201)	CACGTCTTCACCCCCATTTAT	0.413																																						ENST00000381340.3																		ETV6/ITPR2(2)	0				biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125						c.(4015-4017)gGt>gTt		inositol 1,4,5-trisphosphate receptor, type 2							153	143	146					12																	26750054		1926	4139	6065	SO:0001583	missense	3709				activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity	g.chr12:26750054C>A	D26350	CCDS41764.1	12p11.23	2014-07-18	2011-04-28		ENSG00000123104	ENSG00000123104		"Ion channels / Inositol triphosphate receptors"	6181	protein-coding gene	gene with protein product	"cilia and flagella associated protein 48"	600144	"inositol 1,4,5-triphosphate receptor, type 2"			8081734	Standard	XM_006719064		Approved	IP3R2, CFAP48	uc001rhg.3	Q14571	OTTHUMG00000169181	ENST00000381340.3:c.4016G>T	12.37:g.26750054C>A	ENSP00000370744:p.Gly1339Val						p.G1339V	NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN			31	4432	-	Colorectal(261;0.0847)		1339					O94773	Missense_Mutation	SNP	ENST00000381340.3	37	c.4016G>T	CCDS41764.1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.285470	0.80803	.	.	ENSG00000123104	ENST00000381340	D	0.97016	-4.21	4.3	4.3	0.51218	Intracellular calcium-release channel (1);	0.115758	0.64402	D	0.000015	D	0.97967	0.9331	M	0.81112	2.525	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98132	1.0431	10	0.48119	T	0.1	.	17.3056	0.87194	0.0:1.0:0.0:0.0	.	1339	Q14571	ITPR2_HUMAN	V	1339	ENSP00000370744:G1339V	ENSP00000370744:G1339V	G	-	2	0	ITPR2	26641321	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.596000	0.82721	2.371000	0.80710	0.555000	0.69702	GGT		0.413	ITPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402732.1	NM_002223		28	70	1	0	2.81731e-10	1	3.18801e-10	28	70					A	26750054	C	A	26750054	3	1	354	1	0	0	0	0	1	0	0	0	7921	507	18	5	4197	5	ITPR2	12	26750054	Missense_Mutation	SNP	C	TCGA-M7-A722-01A-12D-A364-08		26750054	107101841	25	17792											
FZD10	11211	broad.mit.edu	37	chr12	130648895	130648895	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tttacgaacgcctcaacatgGattactggaagatcctggcg	11	10	10	10	3	1	1	1	0	0	1	2	4	2	3	2	3	4	0	2	3	5	3			TCGA-M7-A722-01A-12D-A364-08	TCGA-M7-A722-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	381e0605-cb54-4ef9-96da-4b9f3ce37cff	14d6a96e-cd7c-4429-adb8-2a6c9ddf22c3	g.chr12:130648895G>A	ENST00000229030.4	+	1	1892	c.1408G>A	c.(1408-1410)Gat>Aat	p.D470N	FZD10_ENST00000539839.1_Missense_Mutation_p.G437E|FZD10-AS1_ENST00000505807.2_RNA			Q9ULW2	FZD10_HUMAN	frizzled class receptor 10	470					brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|cellular response to retinoic acid (GO:0071300)|gonad development (GO:0008406)|negative regulation of Rho GTPase activity (GO:0034259)|neuron differentiation (GO:0030182)|non-canonical Wnt signaling pathway via JNK cascade (GO:0038031)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of Rac GTPase activity (GO:0032855)|regulation of actin cytoskeleton organization (GO:0032956)|vasculature development (GO:0001944)	cell projection (GO:0042995)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|pancreas(1)|prostate(3)|urinary_tract(1)	35	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.3e-06)|Epithelial(86;1.66e-05)|all cancers(50;5.18e-05)		CCTCAACATGGATTACTGGAA	0.567																																						ENST00000539839.1																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|pancreas(1)|prostate(3)|urinary_tract(1)	35						c.(1309-1311)gGa>gAa		frizzled family receptor 10							95	94	94					12																	130648895		2203	4300	6503	SO:0001583	missense	11211				brain development|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|embryo development|gonad development|negative regulation of Rho GTPase activity|neuron differentiation|non-canonical Wnt receptor signaling pathway|positive regulation of JUN kinase activity|positive regulation of Rac GTPase activity|regulation of actin cytoskeleton organization|vasculature development	cell projection|cell surface|cytoplasm|integral to plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding	g.chr12:130648895G>A	AB027464	CCDS9267.1	12q24.33	2014-01-29	2014-01-29			ENSG00000111432		"GPCR / Class F : Frizzled receptors", "CD molecules"	4039	protein-coding gene	gene with protein product		606147	"frizzled (Drosophila) homolog 10", "frizzled homolog 10 (Drosophila)", "frizzled 10, seven transmembrane spanning receptor", "frizzled family receptor 10"			10448064	Standard	NM_007197		Approved	CD350	uc001uii.3	Q9ULW2		ENST00000229030.4:c.1408G>A	12.37:g.130648895G>A	ENSP00000229030:p.Asp470Asn					FZD10_ENST00000229030.4_Missense_Mutation_p.D470N	p.G437E	NM_007197.3	NP_009128.1	Q9ULW2	FZD10_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;1.3e-06)|Epithelial(86;1.66e-05)|all cancers(50;5.18e-05)	1	1892	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		0						Missense_Mutation	SNP	ENST00000229030.4	37	c.1310G>A	CCDS9267.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.29|11.29	1.595710|1.595710	0.28445|0.28445	.|.	.|.	ENSG00000111432|ENSG00000111432	ENST00000229030|ENST00000539839	D|.	0.82255|.	-1.59|.	5.1|5.1	5.1|5.1	0.69264|0.69264	GPCR, family 2-like (1);|.	0.130808|.	0.47852|.	U|.	0.000202|.	T|T	0.74854|0.74854	0.3771|0.3771	M|M	0.64170|0.64170	1.965|1.965	0.80722|0.80722	D|D	1|1	B|.	0.15141|.	0.012|.	B|.	0.23018|.	0.043|.	T|T	0.77920|0.77920	-0.2407|-0.2407	10|6	0.51188|0.87932	T|D	0.08|0	.|.	18.5027|18.5027	0.90888|0.90888	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	470|.	Q9ULW2|.	FZD10_HUMAN|.	N|E	470|437	ENSP00000229030:D470N|.	ENSP00000229030:D470N|ENSP00000438460:G437E	D|G	+|+	1|2	0|0	FZD10|FZD10	129214848|129214848	1.000000|1.000000	0.71417|0.71417	0.982000|0.982000	0.44146|0.44146	0.978000|0.978000	0.69477|0.69477	7.655000|7.655000	0.83696|0.83696	2.360000|2.360000	0.80028|0.80028	0.561000|0.561000	0.74099|0.74099	GAT|GGA		0.567	FZD10-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				7	33	0	0	0	1	0	7	33					A	130648895	G	A	130648895	3	1	354	1	0	0	0	0	1	0	0	0	6129	1174	41	3	1410	3	FZD10	12	130648895	Missense_Mutation	SNP	G	TCGA-M7-A722-01A-12D-A364-08	103898841	130648895	3203000	26	17793											
FOXA1	3169	broad.mit.edu	37	chr14	38061233	38061244	+	In_Frame_Del	DEL	GTTGCCGGAGTC	GTTGCCGGAGTC	-																															tagcagccgttctcgaacatGttgccggagtccgggtgcag																								rs539948672|rs202209403		TCGA-M7-A722-01A-12D-A364-08	TCGA-M7-A722-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	381e0605-cb54-4ef9-96da-4b9f3ce37cff	14d6a96e-cd7c-4429-adb8-2a6c9ddf22c3	g.chr14:38061233_38061244delGTTGCCGGAGTC	ENST00000250448.2	-	2	806_817	c.745_756delGACTCCGGCAAC	c.(745-756)gactccggcaacdel	p.DSGN249del	FOXA1_ENST00000545425.2_5'UTR|FOXA1_ENST00000540786.1_In_Frame_Del_p.DSGN216del	NM_004496.3	NP_004487.2	P55317	FOXA1_HUMAN	forkhead box A1	249					anatomical structure formation involved in morphogenesis (GO:0048646)|chromatin remodeling (GO:0006338)|dorsal/ventral neural tube patterning (GO:0021904)|epithelial cell maturation involved in prostate gland development (GO:0060743)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|epithelial-mesenchymal signaling involved in prostate gland development (GO:0060738)|glucose homeostasis (GO:0042593)|hormone metabolic process (GO:0042445)|lung epithelial cell differentiation (GO:0060487)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron fate specification (GO:0048665)|positive regulation of cell-cell adhesion mediated by cadherin (GO:2000049)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prostate gland epithelium morphogenesis (GO:0060740)|prostate gland stromal morphogenesis (GO:0060741)|response to estradiol (GO:0032355)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)	microvillus (GO:0005902)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|endometrium(1)|large_intestine(2)|lung(3)|prostate(12)	19	Breast(36;0.0954)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		Lung(238;5.41e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0454)|LUSC - Lung squamous cell carcinoma(13;0.0917)|all cancers(34;0.0925)|BRCA - Breast invasive adenocarcinoma(188;0.239)	GBM - Glioblastoma multiforme(112;0.0222)		TCTCGAACATGTTGCCGGAGTCCGGGTGCAGC	0.679																																						ENST00000250448.2																			0				breast(1)|endometrium(1)|large_intestine(2)|lung(3)|prostate(12)	19						c.(745-756)del		forkhead box A1																																				SO:0001651	inframe_deletion	3169				chromatin remodeling|embryo development|epithelial cell maturation involved in prostate gland development|epithelial tube branching involved in lung morphogenesis|epithelial-mesenchymal signaling involved in prostate gland development|glucose homeostasis|lung epithelial cell differentiation|negative regulation of survival gene product expression|neuron fate specification|pattern specification process|positive regulation of estrogen receptor signaling pathway|positive regulation of mitotic cell cycle|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|prostate gland epithelium morphogenesis|prostate gland stromal morphogenesis|response to estradiol stimulus|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development	transcription factor complex	DNA bending activity|double-stranded DNA binding|protein domain specific binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding	g.chr14:38061233_38061244delGTTGCCGGAGTC	U39840	CCDS9665.1	14q12-q13	2008-04-10		2002-09-20	ENSG00000129514	ENSG00000129514		"Forkhead boxes"	5021	protein-coding gene	gene with protein product		602294	"hepatocyte nuclear factor 3, alpha"	HNF3A		9119385, 8652662	Standard	NM_004496		Approved		uc001wuf.4	P55317	OTTHUMG00000140253	ENST00000250448.2:c.745_756delGACTCCGGCAAC	14.37:g.38061233_38061244delGTTGCCGGAGTC	ENSP00000250448:p.Asp249_Asn252del					FOXA1_ENST00000540786.1_In_Frame_Del_p.DSGN216del|FOXA1_ENST00000545425.2_5'UTR	p.DSGN249del	NM_004496.3	NP_004487.2	P55317	FOXA1_HUMAN	Lung(238;5.41e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0454)|LUSC - Lung squamous cell carcinoma(13;0.0917)|all cancers(34;0.0925)|BRCA - Breast invasive adenocarcinoma(188;0.239)	GBM - Glioblastoma multiforme(112;0.0222)	2	806_817	-	Breast(36;0.0954)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		249					B2R9H6|B7ZAP5|Q9H2A0	In_Frame_Del	DEL	ENST00000250448.2	37	c.745_756delGACTCCGGCAAC	CCDS9665.1																																																																																				0.679	FOXA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276735.1			9	13						9	13	---	---	---	---	-	38061244	GTTGCCGGAGTC	-	38061233	7	5	354	1	0	1	0	1	0	0	0	0	5989	1368	48	0	666	0	FOXA1	14	38061233	In_Frame_Del	DEL	GTTGCCGGAGTC	TCGA-M7-A722-01A-12D-A364-08		38061233	69288307	27	17794											
BBS2	583	broad.mit.edu	37	chr16	56531771	56531771	+	Frame_Shift_Del	DEL	T	T	-																															gatatcaccagccaaatcaaTatcatcagtatttatagtga																										TCGA-M7-A722-01A-12D-A364-08	TCGA-M7-A722-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	381e0605-cb54-4ef9-96da-4b9f3ce37cff	14d6a96e-cd7c-4429-adb8-2a6c9ddf22c3	g.chr16:56531771delT	ENST00000245157.5	-	14	2101	c.1681delA	c.(1681-1683)attfs	p.I561fs	BBS2_ENST00000568104.1_Intron	NM_031885.3	NP_114091	Q9BXC9	BBS2_HUMAN	Bardet-Biedl syndrome 2	561					adult behavior (GO:0030534)|artery smooth muscle contraction (GO:0014824)|brain morphogenesis (GO:0048854)|cartilage development (GO:0051216)|cerebral cortex development (GO:0021987)|cilium morphogenesis (GO:0060271)|fat cell differentiation (GO:0045444)|Golgi to plasma membrane protein transport (GO:0043001)|hippocampus development (GO:0021766)|melanosome transport (GO:0032402)|negative regulation of appetite by leptin-mediated signaling pathway (GO:0038108)|negative regulation of gene expression (GO:0010629)|negative regulation of multicellular organism growth (GO:0040015)|nonmotile primary cilium assembly (GO:0035058)|photoreceptor cell maintenance (GO:0045494)|positive regulation of multicellular organism growth (GO:0040018)|protein localization (GO:0008104)|protein localization to organelle (GO:0033365)|regulation of cilium beat frequency involved in ciliary motility (GO:0060296)|sperm axoneme assembly (GO:0007288)|striatum development (GO:0021756)|vasodilation (GO:0042311)|visual perception (GO:0007601)	BBSome (GO:0034464)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|motile cilium (GO:0031514)|plasma membrane (GO:0005886)	RNA polymerase II repressing transcription factor binding (GO:0001103)			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|skin(3)	26						GCCAAATCAATATCATCAGTA	0.358									Bardet-Biedl syndrome																													ENST00000245157.5																			0				breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|skin(3)	26						c.(1681-1683)ttfs		Bardet-Biedl syndrome 2							82	80	80					16																	56531771		2198	4300	6498	SO:0001589	frameshift_variant	583	Bardet-Biedl syndrome	Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome	adult behavior|brain morphogenesis|cerebral cortex development|cilium morphogenesis|fat cell differentiation|hippocampus development|melanosome transport|negative regulation of multicellular organism growth|photoreceptor cell maintenance|protein localization to organelle|regulation of cilium beat frequency involved in ciliary motility|sperm axoneme assembly|striatum development	BBSome|cilium membrane|microtubule basal body|motile cilium	protein binding	g.chr16:56531771delT	AF342736	CCDS32451.1	16q21	2013-01-08				ENSG00000125124			967	protein-coding gene	gene with protein product		606151		BBS		11285252	Standard	NM_031885		Approved		uc002ejd.2	Q9BXC9		ENST00000245157.5:c.1681delA	16.37:g.56531771delT	ENSP00000245157:p.Ile561fs					BBS2_ENST00000568104.1_Intron	p.I561fs	NM_031885.3	NP_114091.3	Q9BXC9	BBS2_HUMAN			14	2101	-			561					Q96CM0|Q96SN9	Frame_Shift_Del	DEL	ENST00000245157.5	37	c.1681delA	CCDS32451.1																																																																																				0.358	BBS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434386.2	NM_031885		22	54						22	54	---	---	---	---	-	56531771	T	-	56531771	7	5	354	1	0	1	0	1	0	0	0	0	1338	1406	49	0	500	0	BBS2	16	56531771	Frame_Shift_Del	DEL	T	TCGA-M7-A722-01A-12D-A364-08		56531771	33822982	28	17795											
HS3ST3A1	9955	broad.mit.edu	37	chr17	13400052	13400052	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccttggacatggccgagatgCgcgcgggggcctcccgcgtg	4	6	17	14	6	0	1	0	0	0	1	1	3	1	2	4	4	1	0	4	4	0	1			TCGA-M7-A722-01A-12D-A364-08	TCGA-M7-A722-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	381e0605-cb54-4ef9-96da-4b9f3ce37cff	14d6a96e-cd7c-4429-adb8-2a6c9ddf22c3	g.chr17:13400052C>T	ENST00000284110.1	-	2	1480	c.683G>A	c.(682-684)cGc>cAc	p.R228H	HS3ST3A1_ENST00000578576.1_Missense_Mutation_p.R26H	NM_006042.1	NP_006033.1	Q9Y663	HS3SA_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 3A1	228					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine 3-sulfotransferase 3 activity (GO:0033872)|sulfotransferase activity (GO:0008146)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		all_lung(20;0.114)		UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		GGCCGAGATGCGCGCGGGGGC	0.637																																						ENST00000284110.1																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						c.(682-684)cGc>cAc		heparan sulfate (glucosamine) 3-O-sulfotransferase 3A1							71	91	84					17																	13400052		2203	4300	6503	SO:0001583	missense	9955					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 3 activity	g.chr17:13400052C>T	AF105376	CCDS11165.1	17p12	2007-04-02			ENSG00000153976	ENSG00000153976	2.8.2.23	"Sulfotransferases, membrane-bound"	5196	protein-coding gene	gene with protein product		604057				9988767	Standard	NM_006042		Approved	3OST3A1, 30ST3A1	uc002gob.1	Q9Y663	OTTHUMG00000058768	ENST00000284110.1:c.683G>A	17.37:g.13400052C>T	ENSP00000284110:p.Arg228His					HS3ST3A1_ENST00000578576.1_Missense_Mutation_p.R26H	p.R228H	NM_006042.1	NP_006033.1	Q9Y663	HS3SA_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.101)	2	1480	-		all_lung(20;0.114)	228					A8K7N2	Missense_Mutation	SNP	ENST00000284110.1	37	c.683G>A	CCDS11165.1	.	.	.	.	.	.	.	.	.	.	C	27.6	4.849219	0.91277	.	.	ENSG00000153976	ENST00000284110	T	0.52983	0.64	5.32	5.32	0.75619	Sulfotransferase domain (1);	0.000000	0.85682	U	0.000000	T	0.79246	0.4413	H	0.95260	3.645	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	D	0.84965	0.0879	10	0.87932	D	0	.	19.4836	0.95020	0.0:1.0:0.0:0.0	.	228	Q9Y663	HS3SA_HUMAN	H	228	ENSP00000284110:R228H	ENSP00000284110:R228H	R	-	2	0	HS3ST3A1	13340777	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.807000	0.69157	2.873000	0.98535	0.563000	0.77884	CGC		0.637	HS3ST3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129952.1	NM_006042		4	114	0	0	0	1	0	4	114					T	13400052	C	T	13400052	3	4	354	1	0	0	0	0	1	0	0	0	7365	768	27	1	541	1	HS3ST3A1	17	13400052	Missense_Mutation	SNP	C	TCGA-M7-A722-01A-12D-A364-08		13400052	67795158	29	17796											
LUC7L3	51747	broad.mit.edu	37	chr17	48819020	48819020	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttattgtcttcaataggcCgctggcccaacaggcaaaaa	12	11	8	10	1	2	0	1	0	1	0	2	0	2	0	2	3	1	2	2	3	6	5	rs150132332		TCGA-M7-A722-01A-12D-A364-08	TCGA-M7-A722-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	381e0605-cb54-4ef9-96da-4b9f3ce37cff	14d6a96e-cd7c-4429-adb8-2a6c9ddf22c3	g.chr17:48819020C>A	ENST00000505658.1	+	5	543	c.354C>A	c.(352-354)gcC>gcA	p.A118A	LUC7L3_ENST00000240304.1_Silent_p.A118A|LUC7L3_ENST00000544170.1_Silent_p.A42A|LUC7L3_ENST00000393227.2_Silent_p.A118A			O95232	LC7L3_HUMAN	LUC7-like 3 (S. cerevisiae)	118					mRNA splice site selection (GO:0006376)|RNA splicing (GO:0008380)	focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|U1 snRNP (GO:0005685)	DNA binding (GO:0003677)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)	12						TTCAATAGGCCGCTGGCCCAA	0.328																																						ENST00000505658.1																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)	12						c.(352-354)gcC>gcA		LUC7-like 3 (S. cerevisiae)							58	54	55					17																	48819020		2203	4300	6503	SO:0001819	synonymous_variant	51747				apoptosis|mRNA processing|response to stress|RNA splicing	focal adhesion|nuclear speck	DNA binding|mRNA binding|protein binding	g.chr17:48819020C>A		CCDS11573.1	17q21.33	2010-02-17			ENSG00000108848	ENSG00000108848			24309	protein-coding gene	gene with protein product	"cisplatin resistance associated overexpressed protein", "CRE-associated protein"	609434				10631324, 12565863	Standard	NM_016424		Approved	LUC7A, CROP, OA48-18, CREAP-1, FLJ11063, CRA, hLuc7A	uc002iss.3	O95232	OTTHUMG00000162257	ENST00000505658.1:c.354C>A	17.37:g.48819020C>A						LUC7L3_ENST00000393227.2_Silent_p.A118A|LUC7L3_ENST00000240304.1_Silent_p.A118A|LUC7L3_ENST00000544170.1_Silent_p.A42A	p.A118A			O95232	LC7L3_HUMAN			5	543	+			118					B3KN54|D3DTY1|Q6PHR9|Q9NUY0|Q9P2S7	Silent	SNP	ENST00000505658.1	37	c.354C>A	CCDS11573.1																																																																																				0.328	LUC7L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368205.2	NM_016424		13	20	1	0	3.27435e-08	1	3.61018e-08	13	20					A	48819020	C	A	48819020	2	1	354	1	0	0	0	0	0	0	0	1	9084	639	23	5		5	LUC7L3	17	48819020	Silent	SNP	C	TCGA-M7-A722-01A-12D-A364-08	35418968	48819020	32376190	30	17797											
RTTN	25914	broad.mit.edu	37	chr18	67759936	67759936	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctcccagcctgggccatcatCtcatgggataagtgaagcaa	11	8	10	12	0	2	1	2	1	1	0	4	2	3	2	3	2	2	1	3	2	3	1			TCGA-M7-A722-01A-12D-A364-08	TCGA-M7-A722-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	381e0605-cb54-4ef9-96da-4b9f3ce37cff	14d6a96e-cd7c-4429-adb8-2a6c9ddf22c3	g.chr18:67759936C>G	ENST00000255674.6	-	29	4294	c.4008G>C	c.(4006-4008)gaG>gaC	p.E1336D	RTTN_ENST00000437017.1_Missense_Mutation_p.E1336D|RTTN_ENST00000454359.1_3'UTR	NM_173630.3	NP_775901.3	Q86VV8	RTTN_HUMAN	rotatin	1336					determination of left/right symmetry (GO:0007368)	ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)				NS(1)|breast(3)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(35)|ovary(4)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Esophageal squamous(42;0.129)				GGGCCATCATCTCATGGGATA	0.443																																						ENST00000255674.6																			0				NS(1)|breast(3)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(35)|ovary(4)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	80						c.(4006-4008)gaG>gaC		rotatin							103	103	103					18																	67759936		2011	4168	6179	SO:0001583	missense	25914						binding	g.chr18:67759936C>G	AL117635	CCDS42443.1	18q22.1	2008-08-01				ENSG00000176225			18654	protein-coding gene	gene with protein product		610436				11900971	Standard	NM_173630		Approved	DKFZP434G145	uc002lkp.2	Q86VV8		ENST00000255674.6:c.4008G>C	18.37:g.67759936C>G	ENSP00000255674:p.Glu1336Asp					RTTN_ENST00000454359.1_3'UTR|RTTN_ENST00000437017.1_Missense_Mutation_p.E1336D	p.E1336D	NM_173630.3	NP_775901.3	Q86VV8	RTTN_HUMAN			29	4294	-		Esophageal squamous(42;0.129)	1336					Q68CS9|Q6ZRL8|Q6ZTK3|Q86TG4|Q8N8N8|Q8TBQ4|Q96IN9|Q9UFJ4	Missense_Mutation	SNP	ENST00000255674.6	37	c.4008G>C	CCDS42443.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.184956	0.78677	.	.	ENSG00000176225	ENST00000255674;ENST00000437017	T;T	0.62941	-0.01;-0.01	4.95	4.95	0.65309	.	0.000000	0.85682	D	0.000000	T	0.74831	0.3768	M	0.68952	2.095	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.76868	-0.2800	10	0.87932	D	0	.	9.9956	0.41898	0.0:0.8734:0.0:0.1266	.	1336	Q86VV8	RTTN_HUMAN	D	1336	ENSP00000255674:E1336D;ENSP00000399520:E1336D	ENSP00000255674:E1336D	E	-	3	2	RTTN	65910916	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	2.302000	0.43637	2.477000	0.83638	0.586000	0.80456	GAG		0.443	RTTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442988.1	NM_173630		3	55	0	0	0	1	0	3	55					G	67759936	C	G	67759936	3	3	354	1	0	0	0	0	1	0	0	0	13737	912	32	5	2756	5	RTTN	18	67759936	Missense_Mutation	SNP	C	TCGA-M7-A722-01A-12D-A364-08		67759936	10317312	31	17798											
NCAN	1463	broad.mit.edu	37	chr19	19356150	19356150	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaactggcgagagaaccagcCggacaatttcttcgcgggtg	10	7	14	10	4	1	1	0	0	1	1	2	5	1	2	2	3	3	0	2	3	3	2			TCGA-M7-A722-01A-12D-A364-08	TCGA-M7-A722-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	381e0605-cb54-4ef9-96da-4b9f3ce37cff	14d6a96e-cd7c-4429-adb8-2a6c9ddf22c3	g.chr19:19356150C>T	ENST00000252575.6	+	13	3620	c.3521C>T	c.(3520-3522)cCg>cTg	p.P1174L	NCAN_ENST00000538881.1_Missense_Mutation_p.P625L	NM_004386.2	NP_004377.2	O14594	NCAN_HUMAN	neurocan	1174	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|regulation of synapse structural plasticity (GO:0051823)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|hyaluronic acid binding (GO:0005540)			breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64			Epithelial(12;0.00544)		Hyaluronan(DB08818)	GAGAACCAGCCGGACAATTTC	0.572																																						ENST00000252575.5																			0				breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64						c.(3520-3522)cCg>cTg		neurocan							106	92	96					19																	19356150		2203	4300	6503	SO:0001583	missense	1463				axon guidance|cell adhesion	extracellular region	calcium ion binding|hyaluronic acid binding|sugar binding	g.chr19:19356150C>T	AF026547	CCDS12397.1	19p12	2014-01-30	2007-02-15	2007-02-15	ENSG00000130287	ENSG00000130287		"Immunoglobulin superfamily / V-set domain containing", "Proteoglycans / Extracellular Matrix : Hyalectans", "Endogenous ligands"	2465	protein-coding gene	gene with protein product	"neurocan proteoglycan"	600826	"chondroitin sulfate proteoglycan 3"	CSPG3		1326557, 21353194	Standard	NM_004386		Approved		uc002nlz.3	O14594		ENST00000252575.6:c.3521C>T	19.37:g.19356150C>T	ENSP00000252575:p.Pro1174Leu					NCAN_ENST00000538881.1_Missense_Mutation_p.P625L	p.P1174L	NM_004386.2	NP_004377.2	O14594	NCAN_HUMAN	Epithelial(12;0.00544)		13	3564	+			1174			C-type lectin.		Q9UPK6	Missense_Mutation	SNP	ENST00000252575.6	37	c.3521C>T	CCDS12397.1	.	.	.	.	.	.	.	.	.	.	C	26.6	4.756503	0.89843	.	.	ENSG00000130287	ENST00000539499;ENST00000252575;ENST00000538881	T;T	0.70869	-0.52;-0.52	4.62	4.62	0.57501	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	0.000000	0.35495	N	0.003177	D	0.90954	0.7156	H	0.99573	4.635	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.94571	0.7771	10	0.87932	D	0	-21.6055	14.9994	0.71459	0.0:1.0:0.0:0.0	.	1174	O14594	NCAN_HUMAN	L	1188;1174;625	ENSP00000252575:P1174L;ENSP00000442202:P625L	ENSP00000252575:P1174L	P	+	2	0	NCAN	19217150	1.000000	0.71417	0.980000	0.43619	0.923000	0.55619	7.475000	0.81041	2.383000	0.81215	0.453000	0.30009	CCG		0.572	NCAN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460111.2	NM_004386		8	30	0	0	0	1	0	8	30					T	19356150	C	T	19356150	3	4	354	1	0	0	0	0	1	0	0	0	10204	652	23	2	3567	2	NCAN	19	19356150	Missense_Mutation	SNP	C	TCGA-M7-A722-01A-12D-A364-08		19356150	39772833	32	17799											
VN1R2	317701	broad.mit.edu	37	chr19	53762473	53762473	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gctcatgctctgggccagcaGctccatcgttttggtcttgt	4	14	11	12	1	3	0	1	0	2	0	5	0	4	0	2	2	3	5	2	2	0	3			TCGA-M7-A722-01A-12D-A364-08	TCGA-M7-A722-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	381e0605-cb54-4ef9-96da-4b9f3ce37cff	14d6a96e-cd7c-4429-adb8-2a6c9ddf22c3	g.chr19:53762473G>T	ENST00000341702.3	+	1	929	c.845G>T	c.(844-846)aGc>aTc	p.S282I	VN1R2_ENST00000598458.1_3'UTR	NM_173856.2	NP_776255.2	Q8NFZ6	VN1R2_HUMAN	vomeronasal 1 receptor 2	282					response to pheromone (GO:0019236)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	pheromone receptor activity (GO:0016503)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(134;0.00301)		TGGGCCAGCAGCTCCATCGTT	0.483																																						ENST00000341702.3																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	31						c.(844-846)aGc>aTc		vomeronasal 1 receptor 2							148	137	141					19																	53762473		2203	4300	6503	SO:0001583	missense	317701				response to pheromone	integral to membrane|plasma membrane	pheromone receptor activity	g.chr19:53762473G>T	AF370359	CCDS12862.1	19q13.42	2012-08-22			ENSG00000196131	ENSG00000196131		"Vomeronasal receptors / Type 1", "GPCR / Unclassified : Vomeronasal receptors, type 1"	19872	protein-coding gene	gene with protein product						12123587	Standard	NM_173856		Approved	V1RL2	uc002qbi.2	Q8NFZ6		ENST00000341702.3:c.845G>T	19.37:g.53762473G>T	ENSP00000351244:p.Ser282Ile					VN1R2_ENST00000598458.1_3'UTR	p.S282I	NM_173856.2	NP_776255.2	Q8NFZ6	VN1R2_HUMAN		GBM - Glioblastoma multiforme(134;0.00301)	1	929	+			282					A1L411|Q8TDU4	Missense_Mutation	SNP	ENST00000341702.3	37	c.845G>T	CCDS12862.1	.	.	.	.	.	.	.	.	.	.	G	3.934	-0.015612	0.07681	.	.	ENSG00000196131	ENST00000341702	T	0.35236	1.32	2.94	1.88	0.25563	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.30823	0.0777	L	0.42008	1.315	0.09310	N	0.999992	P	0.37548	0.599	B	0.37943	0.261	T	0.16041	-1.0416	9	0.56958	D	0.05	.	9.4931	0.38971	0.0:0.0:0.7868:0.2132	.	282	Q8NFZ6	VN1R2_HUMAN	I	282	ENSP00000351244:S282I	ENSP00000351244:S282I	S	+	2	0	VN1R2	58454285	0.006000	0.16342	0.093000	0.20910	0.116000	0.19942	0.146000	0.16180	0.819000	0.34492	0.596000	0.82720	AGC		0.483	VN1R2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464285.1	NM_173856		54	74	1	0	4.25531e-23	1	5.08274e-23	54	74					T	53762473	G	T	53762473	3	4	354	1	0	0	0	0	1	0	0	0	17176	971	34	5	847	5	VN1R2	19	53762473	Missense_Mutation	SNP	G	TCGA-M7-A722-01A-12D-A364-08	34406323	53762473	5366510	33	17800											
EWSR1	2130	broad.mit.edu	37	chr22	29687577	29687577	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tggagagcgaggtggcttcaAtaagcctggtggtaagtttt	9	12	15	5	1	1	1	1	0	0	1	1	3	1	1	1	5	2	3	1	5	3	5	rs201549256		TCGA-M7-A722-01A-12D-A364-08	TCGA-M7-A722-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	381e0605-cb54-4ef9-96da-4b9f3ce37cff	14d6a96e-cd7c-4429-adb8-2a6c9ddf22c3	g.chr22:29687577A>G	ENST00000397938.2	+	9	1320	c.1001A>G	c.(1000-1002)aAt>aGt	p.N334S	EWSR1_ENST00000332035.6_Missense_Mutation_p.N278S|EWSR1_ENST00000332050.6_Intron|EWSR1_ENST00000406548.1_Missense_Mutation_p.N333S|EWSR1_ENST00000331029.7_Intron|EWSR1_ENST00000414183.2_Missense_Mutation_p.N339S	NM_001163285.1|NM_001163286.1|NM_005243.3|NM_013986.3	NP_001156757.1|NP_001156758.1|NP_005234.1|NP_053733.2	Q01844	EWS_HUMAN	EWS RNA-binding protein 1	334	Arg/Gly/Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)		EWSR1/ATF1(347)|EWSR1/POU5F1(10)|EWSR1/PBX1(3)|EWSR1/DDIT3(45)|EWSR1/FEV(11)|EWSR1/CREB1(44)|EWSR1/SMARCA5(2)|EWSR1/ETV4(6)|EWSR1/ERG(178)|EWSR1/ZNF384(4)|EWSR1/ETV1(7)|EWSR1/FLI1(2569)|EWSR1/NR4A3(146)|EWSR1/SP3(3)|EWSR1/PATZ1(2)|EWSR1/WT1(234)|EWSR1/NFATC2(9)	breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|liver(1)|lung(6)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						GGTGGCTTCAATAAGCCTGGT	0.413			T	"FLI1, ERG, ZNF278, NR4A3, FEV, ATF1, ETV1, ETV4, WT1, ZNF384, CREB1, POU5F1,  PBX1"	"Ewing sarcoma,  desmoplastic small round cell tumor , ALL, clear cell sarcoma, sarcoma, myoepithelioma"																																	ENST00000397938.2				Dom	yes		22	22q12	2130	T	Ewing sarcoma breakpoint region 1 (EWS)			"L, M"	"FLI1, ERG, ZNF278, NR4A3, FEV, ATF1, ETV1, ETV4, WT1, ZNF384, CREB1, POU5F1,  PBX1"		"Ewing sarcoma,  desmoplastic small round cell tumor , ALL, clear cell sarcoma, sarcoma, myoepithelioma"	EWSR1/ATF1(347)|EWSR1/POU5F1(10)|EWSR1/PBX1(3)|EWSR1/DDIT3(45)|EWSR1/FEV(11)|EWSR1/CREB1(44)|EWSR1/SMARCA5(2)|EWSR1/ETV4(6)|EWSR1/ERG(178)|EWSR1/ZNF384(4)|EWSR1/ETV1(7)|EWSR1/FLI1(2569)|EWSR1/NR4A3(146)|EWSR1/SP3(3)|EWSR1/PATZ1(2)|EWSR1/WT1(234)|EWSR1/NFATC2(9)	0				breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|liver(1)|lung(6)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						c.(1000-1002)aAt>aGt		EWS RNA-binding protein 1		A	SER/ASN,SER/ASN,SER/ASN,SER/ASN	0,4406		0,0,2203	55	50	52		1016,1001,833,998	5.8	1	22		52	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense	EWSR1	NM_013986.3,NM_005243.3,NM_001163286.1,NM_001163285.1	46,46,46,46	0,1,6502	GG,GA,AA		0.0116,0.0,0.0077	benign,benign,benign,benign	339/662,334/657,278/601,333/656	29687577	1,13005	2203	4300	6503	SO:0001583	missense	2130				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	calmodulin binding|nucleotide binding|RNA binding|zinc ion binding	g.chr22:29687577A>G		CCDS13851.1, CCDS13852.1, CCDS13852.2, CCDS54512.1, CCDS54513.1, CCDS54514.1	22q12.2	2013-05-24	2013-05-24		ENSG00000182944	ENSG00000182944		"RNA binding motif (RRM) containing"	3508	protein-coding gene	gene with protein product		133450	"Ewing sarcoma breakpoint region 1"			1522903	Standard	NM_005243		Approved	EWS	uc003aev.3	Q01844	OTTHUMG00000151107	ENST00000397938.2:c.1001A>G	22.37:g.29687577A>G	ENSP00000381031:p.Asn334Ser					EWSR1_ENST00000414183.2_Missense_Mutation_p.N339S|EWSR1_ENST00000332035.6_Missense_Mutation_p.N278S|EWSR1_ENST00000332050.6_Intron|EWSR1_ENST00000331029.7_Intron|EWSR1_ENST00000406548.1_Missense_Mutation_p.N333S	p.N334S	NM_001163285.1|NM_001163286.1|NM_005243.3|NM_013986.3	NP_001156757.1|NP_001156758.1|NP_005234.1|NP_053733.2	Q01844	EWS_HUMAN			9	1320	+			334			Arg/Gly/Pro-rich.		B0QYK1|Q5THL0|Q92635|Q96FE8|Q96MN4|Q96MX4|Q9BWA2	Missense_Mutation	SNP	ENST00000397938.2	37	c.1001A>G	CCDS13851.1	.	.	.	.	.	.	.	.	.	.	A	1.815	-0.473738	0.04414	0.0	1.16E-4	ENSG00000182944	ENST00000397938;ENST00000406548;ENST00000414183;ENST00000332035	D;D;D;D	0.94723	-3.4;-3.47;-3.5;-3.38	5.78	5.78	0.91487	.	0.053442	0.64402	U	0.000001	D	0.86973	0.6062	N	0.13098	0.295	0.80722	D	1	B;B;B;B;B	0.10296	0.001;0.003;0.003;0.003;0.003	B;B;B;B;B	0.10450	0.003;0.005;0.005;0.005;0.005	T	0.81382	-0.0958	10	0.24483	T	0.36	.	8.4783	0.33027	0.8559:0.0:0.1441:0.0	.	278;333;278;339;334	Q96MN4;Q96FE8;B0QYK1;Q96MX4;Q01844	.;.;.;.;EWS_HUMAN	S	334;333;339;278	ENSP00000381031:N334S;ENSP00000385726:N333S;ENSP00000400142:N339S;ENSP00000331699:N278S	ENSP00000331699:N278S	N	+	2	0	EWSR1	28017577	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.148000	0.50647	2.220000	0.72140	0.533000	0.62120	AAT		0.413	EWSR1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000321345.1	NM_005243		11	15	0	0	0	1	0	11	15					G	29687577	A	G	29687577	3	3	354	1	0	0	0	0	1	0	0	0	5296	101	4	4	1152	4	EWSR1	22	29687577	Missense_Mutation	SNP	A	TCGA-M7-A722-01A-12D-A364-08		29687577	21616989	34	17801											
GTPBP1	9567	broad.mit.edu	37	chr22	39122093	39122093	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctcaacctcctctcccccCgcaccagctacagggaggag	8	6	8	19	1	2	0	1	0	1	0	5	2	4	2	7	2	3	2	7	2	2	1			TCGA-M7-A722-01A-12D-A364-08	TCGA-M7-A722-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	381e0605-cb54-4ef9-96da-4b9f3ce37cff	14d6a96e-cd7c-4429-adb8-2a6c9ddf22c3	g.chr22:39122093C>T	ENST00000216044.5	+	7	1389	c.1156C>T	c.(1156-1158)Cgc>Tgc	p.R386C	GTPBP1_ENST00000460605.1_3'UTR	NM_004286.4	NP_004277.2	O00178	GTPB1_HUMAN	GTP binding protein 1	386	tr-type G. {ECO:0000255|PROSITE- ProRule:PRU01059}.				GTP catabolic process (GO:0006184)|immune response (GO:0006955)|positive regulation of mRNA catabolic process (GO:0061014)|signal transduction (GO:0007165)	cytoplasmic exosome (RNase complex) (GO:0000177)|cytosol (GO:0005829)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)			endometrium(2)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	18	Melanoma(58;0.04)					CCTCTCCCCCCGCACCAGCTA	0.567																																						ENST00000216044.5																			0				endometrium(2)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	18						c.(1156-1158)Cgc>Tgc		GTP binding protein 1							105	107	107					22																	39122093		2203	4300	6503	SO:0001583	missense	9567				immune response|positive regulation of mRNA catabolic process|signal transduction	cytoplasmic exosome (RNase complex)|cytosol	GTP binding|GTPase activity	g.chr22:39122093C>T	U87964	CCDS13977.2	22q13.1	2008-07-01			ENSG00000100226	ENSG00000100226			4669	protein-coding gene	gene with protein product		602245				9070279	Standard	XM_005261857		Approved	GP-1, HSPC018	uc003awg.3	O00178	OTTHUMG00000151002	ENST00000216044.5:c.1156C>T	22.37:g.39122093C>T	ENSP00000216044:p.Arg386Cys					GTPBP1_ENST00000460605.1_3'UTR	p.R386C	NM_004286.4	NP_004277.2	O00178	GTPB1_HUMAN			7	1389	+	Melanoma(58;0.04)		386					Q6IC67	Missense_Mutation	SNP	ENST00000216044.5	37	c.1156C>T	CCDS13977.2	.	.	.	.	.	.	.	.	.	.	C	19.83	3.901053	0.72754	.	.	ENSG00000100226	ENST00000216044	T	0.42900	0.96	4.6	4.6	0.57074	.	0.148607	0.64402	D	0.000016	T	0.66886	0.2835	M	0.88450	2.955	0.80722	D	1	D	0.89917	1.0	D	0.65010	0.931	T	0.74297	-0.3711	10	0.87932	D	0	.	13.4673	0.61263	0.157:0.843:0.0:0.0	.	386	O00178	GTPB1_HUMAN	C	386	ENSP00000216044:R386C	ENSP00000216044:R386C	R	+	1	0	GTPBP1	37452039	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	3.796000	0.55507	2.394000	0.81467	0.551000	0.68910	CGC		0.567	GTPBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075532.1	NM_004286		33	49	0	0	0	1	0	33	49					T	39122093	C	T	39122093	3	4	354	1	0	0	0	0	1	0	0	0	6878	652	23	2	1182	2	GTPBP1	22	39122093	Missense_Mutation	SNP	C	TCGA-M7-A722-01A-12D-A364-08	9434516	39122093	12182473	35	17802											
NHP2L1	4809	broad.mit.edu	37	chr22	42071072	42071072	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccccagggcctgcttggaGcgcacaaacacgtagggcac	9	5	12	15	2	0	0	0	0	0	0	1	1	1	1	3	3	3	4	3	3	2	2			TCGA-M7-A722-01A-12D-A364-08	TCGA-M7-A722-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	381e0605-cb54-4ef9-96da-4b9f3ce37cff	14d6a96e-cd7c-4429-adb8-2a6c9ddf22c3	g.chr22:42071072G>A	ENST00000401959.1	-	4	568	c.252C>T	c.(250-252)cgC>cgT	p.R84R	NHP2L1_ENST00000215956.5_Silent_p.R84R|NHP2L1_ENST00000402458.1_Silent_p.R88R|NHP2L1_ENST00000463675.1_5'UTR|NHP2L1_ENST00000355257.3_Silent_p.R84R	NM_005008.3	NP_004999.1	P55769	NH2L1_HUMAN	NHP2 non-histone chromosome protein 2-like 1 (S. cerevisiae)	84					gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|ribosome biogenesis (GO:0042254)|RNA splicing (GO:0008380)	box C/D snoRNP complex (GO:0031428)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(1)|kidney(1)|lung(1)|prostate(1)	4						CCTGCTTGGAGCGCACAAACA	0.572																																						ENST00000401959.1																			0				endometrium(1)|kidney(1)|lung(1)|prostate(1)	4						c.(250-252)cgC>cgT		NHP2 non-histone chromosome protein 2-like 1 (S. cerevisiae)							84	77	79					22																	42071072		2203	4300	6503	SO:0001819	synonymous_variant	4809				nuclear mRNA splicing, via spliceosome|ribosome biogenesis	box C/D snoRNP complex|nucleoplasm|spliceosomal complex	protein binding|RNA binding	g.chr22:42071072G>A		CCDS14022.1, CCDS33653.1	22q13	2009-01-06	2001-11-28		ENSG00000100138	ENSG00000100138			7819	protein-coding gene	gene with protein product	"small nuclear ribonucleoprotein 15.5kDa (U4/U6.U5)"	601304	"non-histone chromosome protein 2 (S. cerevisiae)-like 1", "sperm specific antigen 1"	SSFA1		8978773	Standard	NM_005008		Approved	SNU13, FA-1, SPAG12, SNRNP15-5, 15.5K	uc003bav.3	P55769	OTTHUMG00000151189	ENST00000401959.1:c.252C>T	22.37:g.42071072G>A						NHP2L1_ENST00000215956.5_Silent_p.R84R|NHP2L1_ENST00000463675.1_5'UTR|NHP2L1_ENST00000355257.3_Silent_p.R84R|NHP2L1_ENST00000402458.1_Silent_p.R88R	p.R84R	NM_005008.3	NP_004999.1	P55769	NH2L1_HUMAN			4	568	-			84						Silent	SNP	ENST00000401959.1	37	c.252C>T	CCDS14022.1																																																																																				0.572	NHP2L1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321682.1	NM_001003796		24	47	0	0	0	1	0	24	47					A	42071072	G	A	42071072	2	1	354	1	0	0	0	0	0	0	0	1	10410	958	34	3		3	NHP2L1	22	42071072	Silent	SNP	G	TCGA-M7-A722-01A-12D-A364-08	2948979	42071072	9233494	36	17803											
CACNA1F	778	broad.mit.edu	37	chrX	49081347	49081347	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	acagaccacaaagcagtcaaAgcggttgaagaaggaagaca	19	3	11	8	1	1	4	1	1	0	3	1	5	1	5	1	2	2	2	1	2	5	1			TCGA-M7-A722-01A-12D-A364-08	TCGA-M7-A722-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	381e0605-cb54-4ef9-96da-4b9f3ce37cff	14d6a96e-cd7c-4429-adb8-2a6c9ddf22c3	g.chrX:49081347A>C	ENST00000376265.2	-	14	1847	c.1786T>G	c.(1786-1788)Ttt>Gtt	p.F596V	CACNA1F_ENST00000376251.1_Missense_Mutation_p.F531V|CACNA1F_ENST00000323022.5_Missense_Mutation_p.F585V|CACNA1F_ENST00000480889.1_5'Flank	NM_005183.2	NP_005174.2	O60840	CAC1F_HUMAN	calcium channel, voltage-dependent, L type, alpha 1F subunit	596					axonogenesis (GO:0007409)|calcium ion import (GO:0070509)|cellular calcium ion homeostasis (GO:0006874)|dendrite morphogenesis (GO:0048813)|detection of light stimulus involved in visual perception (GO:0050908)|membrane depolarization during action potential (GO:0086010)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|perikaryon (GO:0043204)|photoreceptor outer segment (GO:0001750)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			autonomic_ganglia(1)|breast(8)|central_nervous_system(3)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(4)|urinary_tract(1)	85					Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Nimodipine(DB00393)|Spironolactone(DB00421)|Verapamil(DB00661)	AAGCAGTCAAAGCGGTTGAAG	0.557																																						ENST00000376265.2																			0				autonomic_ganglia(1)|breast(8)|central_nervous_system(3)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(4)|urinary_tract(1)	85						c.(1786-1788)Ttt>Gtt		calcium channel, voltage-dependent, L type, alpha 1F subunit	Verapamil(DB00661)						106	60	75					X																	49081347		2203	4300	6503	SO:0001583	missense	778				axon guidance|detection of light stimulus involved in visual perception	voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity	g.chrX:49081347A>C	AA019975	CCDS35253.1, CCDS59166.1, CCDS59167.1	Xp11.23	2013-01-23	2007-02-16		ENSG00000102001	ENSG00000102001		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1393	protein-coding gene	gene with protein product		300110	"Aland island eye disease (Forsius-Eriksson ocular albinism, ocular albinism type 2)"	CSNB2, AIED		9344658, 9662400, 16382099, 12111638, 17525176	Standard	NM_005183		Approved	Cav1.4, JM8, JMC8, CSNBX2, CORDX3, CSNB2A, OA2	uc010nip.3	O60840	OTTHUMG00000022703	ENST00000376265.2:c.1786T>G	X.37:g.49081347A>C	ENSP00000365441:p.Phe596Val					CACNA1F_ENST00000323022.5_Missense_Mutation_p.F585V|CACNA1F_ENST00000376251.1_Missense_Mutation_p.F531V	p.F596V	NM_005183.2	NP_005174.2	O60840	CAC1F_HUMAN			14	1847	-			596					A6NI29|F5CIQ9|O43901|O95226|Q9UHB1	Missense_Mutation	SNP	ENST00000376265.2	37	c.1786T>G	CCDS35253.1	.	.	.	.	.	.	.	.	.	.	.	12.91	2.078760	0.36662	.	.	ENSG00000102001	ENST00000376251;ENST00000323022;ENST00000376265	D;D;D	0.98567	-5.0;-5.0;-5.0	3.4	3.4	0.38934	Ion transport (1);	0.171152	0.52532	D	0.000077	D	0.99208	0.9725	H	0.97340	3.985	0.42178	D	0.991674	D;D	0.62365	0.989;0.991	D;D	0.74023	0.969;0.982	D	0.99016	1.0816	10	0.87932	D	0	.	10.4394	0.44455	1.0:0.0:0.0:0.0	.	585;596	F5CIQ9;O60840	.;CAC1F_HUMAN	V	531;585;596	ENSP00000365427:F531V;ENSP00000321618:F585V;ENSP00000365441:F596V	ENSP00000321618:F585V	F	-	1	0	CACNA1F	48968291	1.000000	0.71417	1.000000	0.80357	0.466000	0.32739	9.233000	0.95337	1.059000	0.40554	0.233000	0.17823	TTT		0.557	CACNA1F-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358157.1	NM_005183		5	1	0	0	0	1	0	5	1					C	49081347	A	C	49081347	3	2	354	1	0	0	0	0	1	0	0	0	2543	72	3	5	4287	5	CACNA1F	23	49081347	Missense_Mutation	SNP	A	TCGA-M7-A722-01A-12D-A364-08		49081347	106189213	37	17804											
EPHA8	2046	broad.mit.edu	37	chr1	22913059	22913059	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccactccgcagctccagccGcccaagcctgccactgtgac	7	5	9	20	2	0	1	0	1	0	0	2	1	2	1	7	0	4	2	7	0	1	0			TCGA-M7-A723-01A-12D-A32B-08	TCGA-M7-A723-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18514ecc-f430-455b-8ee0-b9f5aff63989	d7b480d0-6d85-42ff-9c69-04d1d9fca8f9	g.chr1:22913059G>A	ENST00000166244.3	+	4	982	c.910G>A	c.(910-912)Gcc>Acc	p.A304T	EPHA8_ENST00000538803.1_Missense_Mutation_p.A304T|EPHA8_ENST00000374644.4_Missense_Mutation_p.A304T	NM_020526.3	NP_065387.1	P29322	EPHA8_HUMAN	EPH receptor A8	304	Cys-rich.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|ephrin receptor signaling pathway (GO:0048013)|neuron projection development (GO:0031175)|neuron remodeling (GO:0016322)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|protein autophosphorylation (GO:0046777)|regulation of cell adhesion (GO:0030155)|regulation of cell adhesion mediated by integrin (GO:0033628)|substrate-dependent cell migration (GO:0006929)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)	ATP binding (GO:0005524)|GPI-linked ephrin receptor activity (GO:0005004)	p.A304T(2)		breast(3)|central_nervous_system(5)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(6)|lung(22)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		AGCTCCAGCCGCCCAAGCCTG	0.657																																						ENST00000166244.3																			2	Substitution - Missense(2)	p.A304T(2)	lung(2)	breast(3)|central_nervous_system(5)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(6)|lung(22)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61						c.(910-912)Gcc>Acc		EPH receptor A8							39	39	39					1																	22913059		2203	4300	6503	SO:0001583	missense	2046					integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr1:22913059G>A	BC038796	CCDS225.1, CCDS30626.1	1p36.12	2013-02-11	2004-10-28		ENSG00000070886	ENSG00000070886	2.7.10.1	"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3391	protein-coding gene	gene with protein product		176945	"EphA8"	EEK		1648701	Standard	NM_001006943		Approved	Hek3	uc001bfx.1	P29322	OTTHUMG00000002892	ENST00000166244.3:c.910G>A	1.37:g.22913059G>A	ENSP00000166244:p.Ala304Thr					EPHA8_ENST00000374644.4_Missense_Mutation_p.A304T|EPHA8_ENST00000538803.1_Missense_Mutation_p.A304T	p.A304T	NM_020526.3	NP_065387.1	P29322	EPHA8_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)	4	982	+		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)	304			Cys-rich.		Q6IN80|Q8IUX6|Q9NUA9|Q9P269	Missense_Mutation	SNP	ENST00000166244.3	37	c.910G>A	CCDS225.1	.	.	.	.	.	.	.	.	.	.	g	12.65	2.002347	0.35320	.	.	ENSG00000070886	ENST00000166244;ENST00000374644;ENST00000538803	T;T;T	0.28454	1.61;4.97;4.97	4.05	2.16	0.27623	.	0.219099	0.37906	N	0.001894	T	0.18676	0.0448	L	0.56340	1.77	0.32302	N	0.564859	P;B	0.41131	0.739;0.27	B;B	0.22880	0.041;0.042	T	0.26326	-1.0106	10	0.44086	T	0.13	.	5.9907	0.19460	0.0911:0.0:0.575:0.3339	.	304;304	P29322;P29322-2	EPHA8_HUMAN;.	T	304	ENSP00000166244:A304T;ENSP00000363775:A304T;ENSP00000440274:A304T	ENSP00000166244:A304T	A	+	1	0	EPHA8	22785646	0.986000	0.35501	0.811000	0.32455	0.679000	0.39708	1.983000	0.40648	0.494000	0.27859	-0.372000	0.07161	GCC		0.657	EPHA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008085.1	NM_020526		3	39	0	0	0	1	0	3	39					A	22913059	G	A	22913059	3	1	355	1	0	0	0	0	1	0	0	0	5173	1087	38	1	924	1	EPHA8	1	22913059	Missense_Mutation	SNP	G	TCGA-M7-A723-01A-12D-A32B-08		22913059	226337562	1	17805											
TMEM17	200728	broad.mit.edu	37	chr2	62728401	62728401	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tctcctctgtttgcagagagCcggtcaaagtcttggaggtg	7	12	13	9	1	4	1	1	0	3	1	5	3	4	2	2	3	2	2	2	3	1	2			TCGA-M7-A723-01A-12D-A32B-08	TCGA-M7-A723-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18514ecc-f430-455b-8ee0-b9f5aff63989	d7b480d0-6d85-42ff-9c69-04d1d9fca8f9	g.chr2:62728401C>T	ENST00000335390.5	-	4	751	c.540G>A	c.(538-540)cgG>cgA	p.R180R		NM_198276.2	NP_938017.2	Q86X19	TMM17_HUMAN	transmembrane protein 17	180					cilium assembly (GO:0042384)|smoothened signaling pathway (GO:0007224)	ciliary membrane (GO:0060170)|ciliary transition zone (GO:0035869)|integral component of membrane (GO:0016021)|TCTN-B9D complex (GO:0036038)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)	9	Lung NSC(7;0.0274)|all_lung(7;0.0568)		LUSC - Lung squamous cell carcinoma(7;1.31e-05)|Epithelial(17;0.169)			TTGCAGAGAGCCGGTCAAAGT	0.428																																						ENST00000335390.5																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)	9						c.(538-540)cgG>cgA		transmembrane protein 17							135	126	129					2																	62728401		2203	4300	6503	SO:0001819	synonymous_variant	200728					integral to membrane		g.chr2:62728401C>T		CCDS1871.1	2p15	2008-02-05			ENSG00000186889	ENSG00000186889			26623	protein-coding gene	gene with protein product		614950				12477932	Standard	NM_198276		Approved	FLJ34583	uc002sbt.2	Q86X19	OTTHUMG00000129455	ENST00000335390.5:c.540G>A	2.37:g.62728401C>T							p.R180R	NM_198276.2	NP_938017.2	Q86X19	TMM17_HUMAN	LUSC - Lung squamous cell carcinoma(7;1.31e-05)|Epithelial(17;0.169)		4	751	-	Lung NSC(7;0.0274)|all_lung(7;0.0568)		180					Q53QP7|Q53R98	Silent	SNP	ENST00000335390.5	37	c.540G>A	CCDS1871.1																																																																																				0.428	TMEM17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251618.3	NM_198276		4	75	0	0	0	1	0	4	75					T	62728401	C	T	62728401	2	4	355	1	0	0	0	0	0	0	0	1	16082	726	26	3		3	TMEM17	2	62728401	Silent	SNP	C	TCGA-M7-A723-01A-12D-A32B-08		62728401	180470972	2	17806											
FAT2	2196	broad.mit.edu	37	chr5	150917382	150917382	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggatccagcttgaattcatgCgccccagggccatgcagaga	10	7	12	12	1	1	2	1	1	0	1	2	4	2	3	4	2	3	2	4	2	1	2			TCGA-M7-A723-01A-12D-A32B-08	TCGA-M7-A723-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18514ecc-f430-455b-8ee0-b9f5aff63989	d7b480d0-6d85-42ff-9c69-04d1d9fca8f9	g.chr5:150917382C>T	ENST00000261800.5	-	11	9177	c.9165G>A	c.(9163-9165)gcG>gcA	p.A3055A		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	3055	Cadherin 27. {ECO:0000255|PROSITE- ProRule:PRU00043}.				epithelial cell migration (GO:0010631)|homophilic cell adhesion (GO:0007156)	cell-cell adherens junction (GO:0005913)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.A3055A(1)		NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TGAATTCATGCGCCCCAGGGC	0.458																																						ENST00000261800.5																			1	Substitution - coding silent(1)	p.A3055A(1)	central_nervous_system(1)	NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196						c.(9163-9165)gcG>gcA		FAT atypical cadherin 2							120	112	115					5																	150917382		2203	4300	6503	SO:0001819	synonymous_variant	2196				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding	g.chr5:150917382C>T	AF231022	CCDS4317.1	5q33.1	2014-07-21	2013-05-31		ENSG00000086570	ENSG00000086570		"Cadherins / Cadherin-related"	3596	protein-coding gene	gene with protein product	"cadherin-related family member 9"	604269	"FAT tumor suppressor (Drosophila) homolog 2", "FAT tumor suppressor homolog 2 (Drosophila)"			9693030	Standard	NM_001447		Approved	MEGF1, CDHF8, HFAT2, CDHR9	uc003lue.4	Q9NYQ8	OTTHUMG00000130126	ENST00000261800.5:c.9165G>A	5.37:g.150917382C>T							p.A3055A	NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		11	9177	-		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	3055			Cadherin 27.		O75091|Q9NSR7	Silent	SNP	ENST00000261800.5	37	c.9165G>A	CCDS4317.1																																																																																				0.458	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252434.1	NM_001447		3	48	0	0	0	1	0	3	48					T	150917382	C	T	150917382	2	4	355	1	0	0	0	0	0	0	0	1	5690	755	27	1		1	FAT2	5	150917382	Silent	SNP	C	TCGA-M7-A723-01A-12D-A32B-08		150917382	29997878	3	17807											
NOTCH1	4851	broad.mit.edu	37	chr9	139397709	139397709	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcccaggaatgcggccacgtCggtggcactctggaagcact	8	7	13	13	3	1	0	0	0	1	0	3	2	2	2	2	5	2	2	2	5	2	0			TCGA-M7-A723-01A-12D-A32B-08	TCGA-M7-A723-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18514ecc-f430-455b-8ee0-b9f5aff63989	d7b480d0-6d85-42ff-9c69-04d1d9fca8f9	g.chr9:139397709C>T	ENST00000277541.6	-	27	5167	c.5092G>A	c.(5092-5094)Gac>Aac	p.D1698N		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	1698					anagen (GO:0042640)|aortic valve morphogenesis (GO:0003180)|apoptotic process involved in embryonic digit morphogenesis (GO:1902263)|arterial endothelial cell differentiation (GO:0060842)|atrioventricular node development (GO:0003162)|atrioventricular valve morphogenesis (GO:0003181)|auditory receptor cell fate commitment (GO:0009912)|axonogenesis (GO:0007409)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac atrium morphogenesis (GO:0003209)|cardiac chamber formation (GO:0003207)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac left ventricle morphogenesis (GO:0003214)|cardiac muscle cell proliferation (GO:0060038)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac right atrium morphogenesis (GO:0003213)|cardiac right ventricle formation (GO:0003219)|cardiac septum morphogenesis (GO:0060411)|cardiac vascular smooth muscle cell development (GO:0060948)|cardiac ventricle morphogenesis (GO:0003208)|cell fate specification (GO:0001708)|cell migration involved in endocardial cushion formation (GO:0003273)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|cilium morphogenesis (GO:0060271)|collecting duct development (GO:0072044)|compartment pattern specification (GO:0007386)|coronary artery morphogenesis (GO:0060982)|coronary vein morphogenesis (GO:0003169)|determination of left/right symmetry (GO:0007368)|distal tubule development (GO:0072017)|embryonic hindlimb morphogenesis (GO:0035116)|endocardial cell differentiation (GO:0060956)|endocardial cushion morphogenesis (GO:0003203)|endocardium development (GO:0003157)|endocardium morphogenesis (GO:0003160)|endoderm development (GO:0007492)|epithelial to mesenchymal transition (GO:0001837)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|forebrain development (GO:0030900)|foregut morphogenesis (GO:0007440)|gene expression (GO:0010467)|glial cell differentiation (GO:0010001)|glomerular mesangial cell development (GO:0072144)|growth involved in heart morphogenesis (GO:0003241)|hair follicle morphogenesis (GO:0031069)|heart development (GO:0007507)|heart looping (GO:0001947)|heart trabecula morphogenesis (GO:0061384)|humoral immune response (GO:0006959)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|keratinocyte differentiation (GO:0030216)|left/right axis specification (GO:0070986)|liver development (GO:0001889)|lung development (GO:0030324)|mesenchymal cell development (GO:0014031)|mitral valve formation (GO:0003192)|negative regulation of anoikis (GO:2000811)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of endothelial cell chemotaxis (GO:2001027)|negative regulation of glial cell proliferation (GO:0060253)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of neurogenesis (GO:0050768)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of ossification (GO:0030279)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of photoreceptor cell differentiation (GO:0046533)|negative regulation of pro-B cell differentiation (GO:2000974)|negative regulation of stem cell differentiation (GO:2000737)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|Notch signaling pathway involved in regulation of secondary heart field cardioblast proliferation (GO:0003270)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061419)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland epithelium morphogenesis (GO:0060740)|pulmonary valve morphogenesis (GO:0003184)|regulation of epithelial cell proliferation involved in prostate gland development (GO:0060768)|regulation of extracellular matrix assembly (GO:1901201)|regulation of somitogenesis (GO:0014807)|regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003256)|regulation of transcription, DNA-templated (GO:0006355)|response to muramyl dipeptide (GO:0032495)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell division (GO:0048103)|sprouting angiogenesis (GO:0002040)|transcription initiation from RNA polymerase II promoter (GO:0006367)|tube formation (GO:0035148)|vasculogenesis involved in coronary vascular morphogenesis (GO:0060979)|venous endothelial cell differentiation (GO:0060843)|ventricular septum morphogenesis (GO:0060412)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|MAML1-RBP-Jkappa- ICN1 complex (GO:0002193)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|receptor activity (GO:0004872)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		GCGGCCACGTCGGTGGCACTC	0.637			"T, Mis, O"	TRB@	T-ALL					HNSCC(8;0.001)																												ENST00000277541.6				Dom	yes		9	9q34.3	4851	"T, Mis, O"	"Notch homolog 1, translocation-associated (Drosophila) (TAN1)"			L	TRB@		T-ALL		0				breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359						c.(5092-5094)Gac>Aac		notch 1							56	67	63					9																	139397709		2136	4259	6395	SO:0001583	missense	4851				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	g.chr9:139397709C>T	AF308602	CCDS43905.1	9q34.3	2013-01-10	2010-06-24		ENSG00000148400	ENSG00000148400		"Ankyrin repeat domain containing"	7881	protein-coding gene	gene with protein product		190198	"Notch (Drosophila) homolog 1 (translocation-associated)", "Notch homolog 1, translocation-associated (Drosophila)"	TAN1		1831692	Standard	NM_017617		Approved		uc004chz.3	P46531	OTTHUMG00000020935	ENST00000277541.6:c.5092G>A	9.37:g.139397709C>T	ENSP00000277541:p.Asp1698Asn	HNSCC(8;0.001)					p.D1698N	NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)	27	5167	-	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)	1698					Q59ED8|Q5SXM3	Missense_Mutation	SNP	ENST00000277541.6	37	c.5092G>A	CCDS43905.1	.	.	.	.	.	.	.	.	.	.	C	29.3	4.993277	0.93167	.	.	ENSG00000148400	ENST00000277541	T	0.30981	1.51	4.95	4.95	0.65309	Notch, NODP domain (1);	0.000000	0.85682	D	0.000000	T	0.52338	0.1728	L	0.61218	1.895	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.41875	-0.9484	10	0.25106	T	0.35	.	17.524	0.87794	0.0:1.0:0.0:0.0	.	1698	P46531	NOTC1_HUMAN	N	1698	ENSP00000277541:D1698N	ENSP00000277541:D1698N	D	-	1	0	NOTCH1	138517530	1.000000	0.71417	0.851000	0.33527	0.607000	0.37147	5.876000	0.69667	2.457000	0.83068	0.561000	0.74099	GAC		0.637	NOTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055087.1	NM_017617		3	30	0	0	0	1	0	3	30					T	139397709	C	T	139397709	3	4	355	1	0	0	0	0	1	0	0	0	10547	884	31	2	2607	2	NOTCH1	9	139397709	Missense_Mutation	SNP	C	TCGA-M7-A723-01A-12D-A32B-08		139397709	1815722	4	17808											
CNNM2	54805	broad.mit.edu	37	chr10	104678762	104678762	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	acctcgggcatcatcgagatCgagatcaaaccgctacgcaa	13	6	9	13	5	2	2	2	0	0	2	5	4	2	2	2	1	2	3	2	1	3	1			TCGA-M7-A723-01A-12D-A32B-08	TCGA-M7-A723-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18514ecc-f430-455b-8ee0-b9f5aff63989	d7b480d0-6d85-42ff-9c69-04d1d9fca8f9	g.chr10:104678762C>T	ENST00000369878.4	+	1	713	c.525C>T	c.(523-525)atC>atT	p.I175I	CNNM2_ENST00000433628.2_Silent_p.I175I|CNNM2_ENST00000369875.3_Silent_p.I175I	NM_017649.4	NP_060119.3	Q9H8M5	CNNM2_HUMAN	cyclin and CBS domain divalent metal cation transport mediator 2	175					magnesium ion homeostasis (GO:0010960)|magnesium ion transport (GO:0015693)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)	adenyl nucleotide binding (GO:0030554)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|urinary_tract(1)	19		Colorectal(252;0.103)|all_hematologic(284;0.152)|Breast(234;0.198)		Epithelial(162;7.89e-09)|all cancers(201;1.82e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)		TCATCGAGATCGAGATCAAAC	0.637																																						ENST00000369878.3																			0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|urinary_tract(1)	19						c.(523-525)atC>atT		cyclin M2							132	142	139					10																	104678762		2201	4299	6500	SO:0001819	synonymous_variant	54805				ion transport	integral to membrane		g.chr10:104678762C>T	AF216962	CCDS7543.1, CCDS44474.1, CCDS44475.1	10q24.32	2014-08-08	2014-08-07		ENSG00000148842	ENSG00000148842			103	protein-coding gene	gene with protein product		607803	"cyclin M2"	ACDP2		21393841, 24699222	Standard	NM_017649		Approved		uc001kwm.3	Q9H8M5	OTTHUMG00000018976	ENST00000369878.4:c.525C>T	10.37:g.104678762C>T						CNNM2_ENST00000433628.2_Silent_p.I175I|CNNM2_ENST00000369875.3_Silent_p.I175I	p.I175I	NM_017649.4	NP_060119.3	Q9H8M5	CNNM2_HUMAN		Epithelial(162;7.89e-09)|all cancers(201;1.82e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)	1	649	+		Colorectal(252;0.103)|all_hematologic(284;0.152)|Breast(234;0.198)	175					Q5T569|Q5T570|Q8WU59|Q9H952|Q9NRK5|Q9NXT4	Silent	SNP	ENST00000369878.4	37	c.525C>T	CCDS44474.1																																																																																				0.637	CNNM2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050113.3	NM_017649		6	176	0	0	0	1	0	6	176					T	104678762	C	T	104678762	2	4	355	1	0	0	0	0	0	0	0	1	3613	874	31	2		2	CNNM2	10	104678762	Silent	SNP	C	TCGA-M7-A723-01A-12D-A32B-08		104678762	30855985	5	17809											
VPS39	23339	broad.mit.edu	37	chr15	42453958	42453958	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcacctgctggtgtaaaatcCgctcttcctggacctggaag	8	11	10	12	1	2	0	1	0	1	0	4	2	4	2	4	3	1	3	4	3	3	2			TCGA-M7-A723-01A-12D-A32B-08	TCGA-M7-A723-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18514ecc-f430-455b-8ee0-b9f5aff63989	d7b480d0-6d85-42ff-9c69-04d1d9fca8f9	g.chr15:42453958C>T	ENST00000348544.4	-	25	2506	c.2507G>A	c.(2506-2508)cGg>cAg	p.R836Q	VPS39_ENST00000318006.5_Missense_Mutation_p.R825Q			Q96JC1	VPS39_HUMAN	vacuolar protein sorting 39 homolog (S. cerevisiae)	836					intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	endosome (GO:0005768)|HOPS complex (GO:0030897)|lysosomal membrane (GO:0005765)	small GTPase regulator activity (GO:0005083)			breast(2)|kidney(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		all_cancers(109;6.78e-16)|all_epithelial(112;1.81e-14)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;3.05e-06)		GTGTAAAATCCGCTCTTCCTG	0.517																																						ENST00000318006.5																			0				breast(2)|kidney(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						c.(2473-2475)cGg>cAg		vacuolar protein sorting 39 homolog (S. cerevisiae)							212	191	198					15																	42453958		2203	4299	6502	SO:0001583	missense	23339				protein transport	HOPS complex|late endosome membrane|lysosomal membrane	small GTPase regulator activity	g.chr15:42453958C>T	AF280814	CCDS10083.1, CCDS73710.1	15q14	2008-02-05	2006-12-19		ENSG00000166887	ENSG00000166887			20593	protein-coding gene	gene with protein product		612188	"vacuolar protein sorting 39 (yeast)"			11448994	Standard	XM_005254259		Approved	KIAA0770, VAM6	uc001zpc.3	Q96JC1	OTTHUMG00000130467	ENST00000348544.4:c.2507G>A	15.37:g.42453958C>T	ENSP00000335193:p.Arg836Gln					VPS39_ENST00000348544.4_Missense_Mutation_p.R836Q	p.R825Q	NM_015289.2	NP_056104.2	Q96JC1	VPS39_HUMAN		GBM - Glioblastoma multiforme(94;3.05e-06)	24	2636	-		all_cancers(109;6.78e-16)|all_epithelial(112;1.81e-14)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)	836					O94869|Q71SQ6|Q7Z3V3|Q96B93|Q96RM0	Missense_Mutation	SNP	ENST00000348544.4	37	c.2474G>A	CCDS10083.1	.	.	.	.	.	.	.	.	.	.	C	26.4	4.732636	0.89482	.	.	ENSG00000166887	ENST00000318006;ENST00000348544	T;T	0.47177	0.85;0.85	5.6	5.6	0.85130	Vacuolar sorting protein 39/Transforming growth factor beta receptor-associated domain 2 (1);	0.060711	0.64402	D	0.000003	T	0.49440	0.1557	L	0.54323	1.7	0.80722	D	1	P;B	0.34724	0.465;0.41	B;B	0.37601	0.254;0.165	T	0.40997	-0.9533	10	0.31617	T	0.26	-7.9889	19.6157	0.95633	0.0:1.0:0.0:0.0	.	836;825	Q96JC1;Q96JC1-2	VPS39_HUMAN;.	Q	825;836	ENSP00000326534:R825Q;ENSP00000335193:R836Q	ENSP00000326534:R825Q	R	-	2	0	VPS39	40241250	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.749000	0.68704	2.635000	0.89317	0.561000	0.74099	CGG		0.517	VPS39-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000420472.1	NM_015289		7	167	0	0	0	1	0	7	167					T	42453958	C	T	42453958	3	4	355	1	0	0	0	0	1	0	0	0	17206	652	23	2	161	2	VPS39	15	42453958	Missense_Mutation	SNP	C	TCGA-M7-A723-01A-12D-A32B-08		42453958	60077434	6	17810											
MYO1E	4643	broad.mit.edu	37	chr15	59506877	59506877	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atagatgtctaggacgccaaTgttgtattcttcatggtctt	9	16	9	7	1	4	1	1	0	3	1	4	2	4	2	1	2	0	2	1	2	4	7	rs532260829		TCGA-M7-A723-01A-12D-A32B-08	TCGA-M7-A723-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18514ecc-f430-455b-8ee0-b9f5aff63989	d7b480d0-6d85-42ff-9c69-04d1d9fca8f9	g.chr15:59506877T>A	ENST00000288235.4	-	11	1549	c.1150A>T	c.(1150-1152)Att>Ttt	p.I384F	RNU4-80P_ENST00000363200.1_RNA|AC092756.1_ENST00000401164.1_RNA	NM_004998.3	NP_004989.2	Q12965	MYO1E_HUMAN	myosin IE	384	Myosin motor.				actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|endocytosis (GO:0006897)|glomerular basement membrane development (GO:0032836)|glomerular filtration (GO:0003094)|glomerular visceral epithelial cell development (GO:0072015)|in utero embryonic development (GO:0001701)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|post-embryonic hemopoiesis (GO:0035166)|vasculogenesis (GO:0001570)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|motor activity (GO:0003774)|phosphatidylinositol binding (GO:0035091)			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(6)|lung(10)|pancreas(2)|prostate(1)|urinary_tract(1)	33				all cancers(107;0.207)		AGGACGCCAATGTTGTATTCT	0.423													T|||	1	0.000199681	0	0	5008	,	,		19745	0		0	False		,,,				2504	0.001					ENST00000288235.4																			0				breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(6)|lung(10)|pancreas(2)|prostate(1)|urinary_tract(1)	33						c.(1150-1152)Att>Ttt		myosin IE							213	202	205					15																	59506877		2190	4290	6480	SO:0001583	missense	4643				actin filament-based movement	myosin complex	actin binding|ATP binding|ATPase activity, coupled|calmodulin binding|microfilament motor activity	g.chr15:59506877T>A	U14391	CCDS32254.1	15q21-q22	2011-09-27				ENSG00000157483		"Myosins / Myosin superfamily : Class I"	7599	protein-coding gene	gene with protein product	"myosin-IC"	601479				8884266	Standard	NM_004998		Approved	MYO1C, HuncM-IC, MGC104638	uc002aga.4	Q12965		ENST00000288235.4:c.1150A>T	15.37:g.59506877T>A	ENSP00000288235:p.Ile384Phe						p.I384F	NM_004998.3	NP_004989.2	Q12965	MYO1E_HUMAN		all cancers(107;0.207)	11	1549	-			384			Myosin head-like.		Q14778	Missense_Mutation	SNP	ENST00000288235.4	37	c.1150A>T	CCDS32254.1	.	.	.	.	.	.	.	.	.	.	T	20.2	3.950206	0.73787	.	.	ENSG00000157483	ENST00000288235	D	0.97256	-4.31	5.14	5.14	0.70334	Myosin head, motor domain (3);	0.092104	0.64402	D	0.000001	D	0.99180	0.9716	H	0.99565	4.63	0.80722	D	1	D	0.57257	0.979	D	0.67103	0.949	D	0.98645	1.0677	10	0.87932	D	0	.	15.4162	0.74970	0.0:0.0:0.0:1.0	.	384	Q12965	MYO1E_HUMAN	F	384	ENSP00000288235:I384F	ENSP00000288235:I384F	I	-	1	0	MYO1E	57294169	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.303000	0.51858	2.285000	0.76669	0.533000	0.62120	ATT		0.423	MYO1E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416024.1	NM_004998		5	121	0	0	0	1	0	5	121					A	59506877	T	A	59506877	3	1	355	1	0	0	0	0	1	0	0	0	10072	1464	51	5	2248	5	MYO1E	15	59506877	Missense_Mutation	SNP	T	TCGA-M7-A723-01A-12D-A32B-08	17052919	59506877	43024515	7	17811											
IGDCC4	57722	broad.mit.edu	37	chr15	65686765	65686765	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcaccttcctttcccaaaccGtattctatcttgtacttcac	8	16	2	15	1	4	0	2	0	2	0	6	0	6	0	4	0	2	2	4	0	4	8	rs144581941	byFrequency	TCGA-M7-A723-01A-12D-A32B-08	TCGA-M7-A723-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18514ecc-f430-455b-8ee0-b9f5aff63989	d7b480d0-6d85-42ff-9c69-04d1d9fca8f9	g.chr15:65686765G>A	ENST00000352385.2	-	9	1907	c.1698C>T	c.(1696-1698)taC>taT	p.Y566Y		NM_020962.1	NP_066013.1	Q8TDY8	IGDC4_HUMAN	immunoglobulin superfamily, DCC subclass, member 4	566	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	44						TTCCCAAACCGTATTCTATCT	0.602																																						ENST00000352385.2																			0				NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	44						c.(1696-1698)taC>taT		immunoglobulin superfamily, DCC subclass, member 4		G		0,4402		0,0,2201	196	180	185		1698	0	1	15	dbSNP_134	185	4,8594	3.7+/-12.6	0,4,4295	no	coding-synonymous	IGDCC4	NM_020962.1		0,4,6496	AA,AG,GG		0.0465,0.0,0.0308		566/1251	65686765	4,12996	2201	4299	6500	SO:0001819	synonymous_variant	57722					integral to membrane|plasma membrane		g.chr15:65686765G>A		CCDS10206.1	15q22.31	2013-02-11			ENSG00000103742	ENSG00000103742		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	13770	protein-coding gene	gene with protein product	"likely ortholog of mouse neighbor of Punc E11"						Standard	NM_020962		Approved	NOPE, LOC57722	uc002aou.1	Q8TDY8	OTTHUMG00000133136	ENST00000352385.2:c.1698C>T	15.37:g.65686765G>A							p.Y566Y	NM_020962.1	NP_066013.1	Q8TDY8	IGDC4_HUMAN			9	1907	-			566			Fibronectin type-III 2.		Q9HCE4	Silent	SNP	ENST00000352385.2	37	c.1698C>T	CCDS10206.1																																																																																				0.602	IGDCC4-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000256825.2	NM_020962		7	145	0	0	0	1	0	7	145					A	65686765	G	A	65686765	2	1	355	1	0	0	0	0	0	0	0	1	7569	1140	40	1		1	IGDCC4	15	65686765	Silent	SNP	G	TCGA-M7-A723-01A-12D-A32B-08	6179888	65686765	36844627	8	17812											
TEX14	56155	broad.mit.edu	37	chr17	56676544	56676544	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgatgagatactcctcagtcGtggacatgttgttcaaattg	10	14	10	7	1	2	2	2	2	0	1	4	4	3	3	1	1	1	2	1	1	2	4	rs146894476	byFrequency	TCGA-M7-A723-01A-12D-A32B-08	TCGA-M7-A723-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18514ecc-f430-455b-8ee0-b9f5aff63989	d7b480d0-6d85-42ff-9c69-04d1d9fca8f9	g.chr17:56676544G>A	ENST00000240361.8	-	14	2265	c.2180C>T	c.(2179-2181)aCg>aTg	p.T727M	TEX14_ENST00000349033.5_Missense_Mutation_p.T721M|TEX14_ENST00000389934.3_Missense_Mutation_p.T721M			Q8IWB6	TEX14_HUMAN	testis expressed 14	727					attachment of spindle microtubules to kinetochore (GO:0008608)|intercellular bridge organization (GO:0043063)|male meiosis (GO:0007140)|mitotic sister chromatid separation (GO:0051306)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of cytokinesis (GO:0032466)|negative regulation of protein binding (GO:0032091)	cell (GO:0005623)|cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|kinetochore (GO:0000776)|midbody (GO:0030496)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)			breast(6)|endometrium(5)|kidney(3)|large_intestine(22)|liver(1)|lung(24)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	81	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CTCCTCAGTCGTGGACATGTT	0.438																																						ENST00000389934.3																			0				breast(6)|endometrium(5)|kidney(3)|large_intestine(22)|liver(1)|lung(24)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	81						c.(2161-2163)aCg>aTg		testis expressed 14		G	MET/THR,MET/THR,MET/THR	0,4406		0,0,2203	259	247	251		2180,2162,2162	-5.7	0	17	dbSNP_134	251	2,8598	2.2+/-6.3	0,2,4298	yes	missense,missense,missense	TEX14	NM_001201457.1,NM_031272.4,NM_198393.3	81,81,81	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	benign,benign,benign	727/1498,721/1452,721/1492	56676544	2,13004	2203	4300	6503	SO:0001583	missense	56155					cytoplasm	ATP binding|protein kinase activity	g.chr17:56676544G>A	AF285601	CCDS32692.1, CCDS32693.1, CCDS56042.1	17q22	2013-09-20	2007-03-13		ENSG00000121101	ENSG00000121101			11737	protein-coding gene	gene with protein product	"cancer/testis antigen 113"	605792	"testis expressed sequence 14"			11279525, 12711554	Standard	NM_031272		Approved	CT113	uc010dcz.2	Q8IWB6	OTTHUMG00000179245	ENST00000240361.8:c.2180C>T	17.37:g.56676544G>A	ENSP00000240361:p.Thr727Met					TEX14_ENST00000240361.8_Missense_Mutation_p.T727M|TEX14_ENST00000349033.5_Missense_Mutation_p.T721M	p.T721M	NM_001201457.1|NM_198393.3	NP_001188386.1|NP_938207.2	Q8IWB6	TEX14_HUMAN			14	2279	-	Medulloblastoma(34;0.127)|all_neural(34;0.237)		727					A6NH19|Q7RTP3|Q8ND97|Q9BXT9	Missense_Mutation	SNP	ENST00000240361.8	37	c.2162C>T	CCDS56042.1	.	.	.	.	.	.	.	.	.	.	g	8.799	0.932416	0.18131	0.0	2.33E-4	ENSG00000121101	ENST00000240361;ENST00000389934;ENST00000349033	T;T;T	0.79141	-1.24;-1.24;-1.2	5.54	-5.74	0.02391	.	0.940421	0.09028	N	0.859166	T	0.35335	0.0928	N	0.00436	-1.5	0.09310	N	1	B;B;B	0.09022	0.0;0.002;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.29058	-1.0024	10	0.41790	T	0.15	-0.425	1.0442	0.01566	0.2086:0.1447:0.3229:0.3239	.	727;721;721	Q8IWB6;Q8IWB6-3;Q8IWB6-2	TEX14_HUMAN;.;.	M	727;721;721	ENSP00000240361:T727M;ENSP00000374584:T721M;ENSP00000268910:T721M	ENSP00000240361:T727M	T	-	2	0	TEX14	54031543	0.000000	0.05858	0.005000	0.12908	0.003000	0.03518	-2.315000	0.01124	-0.968000	0.03578	-1.137000	0.01932	ACG		0.438	TEX14-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000445446.1			4	214	0	0	0	1	0	4	214					A	56676544	G	A	56676544	3	1	355	1	0	0	0	0	1	0	0	0	15775	1145	40	1	2393	1	TEX14	17	56676544	Missense_Mutation	SNP	G	TCGA-M7-A723-01A-12D-A32B-08		56676544	24518666	9	17813											
USP29	57663	broad.mit.edu	37	chr19	57641660	57641660	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aaatctttaagtttatcttcTtattgcaatgaaagcaccaa	15	15	4	7	0	3	1	0	1	3	0	3	1	3	1	1	0	2	3	1	0	7	7			TCGA-M7-A723-01A-12D-A32B-08	TCGA-M7-A723-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18514ecc-f430-455b-8ee0-b9f5aff63989	d7b480d0-6d85-42ff-9c69-04d1d9fca8f9	g.chr19:57641660T>G	ENST00000254181.4	+	4	2071	c.1617T>G	c.(1615-1617)tcT>tcG	p.S539S	USP29_ENST00000598197.1_Silent_p.S539S	NM_020903.2	NP_065954.1	Q9HBJ7	UBP29_HUMAN	ubiquitin specific peptidase 29	539	USP.				ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type peptidase activity (GO:0008234)|ubiquitin thiolesterase activity (GO:0004221)			breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		GTTTATCTTCTTATTGCAATG	0.403																																						ENST00000254181.4																			0				breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	85						c.(1615-1617)tcT>tcG		ubiquitin specific peptidase 29							136	146	142					19																	57641660		2203	4300	6503	SO:0001819	synonymous_variant	0				protein modification process|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity	g.chr19:57641660T>G		CCDS33124.1	19q13.4	2008-06-23	2005-08-08			ENSG00000131864		"Ubiquitin-specific peptidases"	18563	protein-coding gene	gene with protein product		609546	"ubiquitin specific protease 29"			12838346	Standard	NM_020903		Approved		uc002qny.3	Q9HBJ7		ENST00000254181.4:c.1617T>G	19.37:g.57641660T>G						USP29_ENST00000598197.1_Silent_p.S539S	p.S539S	NM_020903.2	NP_065954.1	Q9HBJ7	UBP29_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)	4	2071	+		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)	539						Silent	SNP	ENST00000254181.4	37	c.1617T>G	CCDS33124.1																																																																																				0.403	USP29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465075.1			6	159	0	0	0	1	0	6	159					G	57641660	T	G	57641660	2	3	355	1	0	0	0	0	0	0	0	1	17056	1596	56	5		5	USP29	19	57641660	Silent	SNP	T	TCGA-M7-A723-01A-12D-A32B-08		57641660	1487323	10	17814											
MIER1	57708	broad.mit.edu	37	chr1	67424570	67424570	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	attcatcaggtcaggaggatGaaactcagtcttccaatgat	13	11	9	8	0	5	2	4	2	1	0	6	4	6	4	1	3	1	0	1	3	2	2			TCGA-M7-A724-01A-12D-A32B-08	TCGA-M7-A724-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da45f3a1-439a-45b0-8e3d-9761899018a9	ef22c980-b6f4-4ffc-a877-20515c382c67	g.chr1:67424570G>A	ENST00000355356.3	+	5	528	c.379G>A	c.(379-381)Gaa>Aaa	p.E127K	MIER1_ENST00000371014.1_Missense_Mutation_p.E180K|MIER1_ENST00000401042.3_Missense_Mutation_p.E127K|MIER1_ENST00000355977.6_Missense_Mutation_p.E64K|MIER1_ENST00000371018.3_Missense_Mutation_p.E144K|MIER1_ENST00000371016.1_Missense_Mutation_p.E144K|MIER1_ENST00000401041.1_Missense_Mutation_p.E180K|MIER1_ENST00000357692.2_Missense_Mutation_p.E144K|MIER1_ENST00000479067.1_3'UTR	NM_001077701.2|NM_001077704.2	NP_001071169.1|NP_001071172.1	Q8N108	MIER1_HUMAN	mesoderm induction early response 1, transcriptional regulator	127	Glu-rich.				positive regulation of chromatin silencing (GO:0031937)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|signal transducer activity (GO:0004871)			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|urinary_tract(3)	15						TCAGGAGGATGAAACTCAGTC	0.368																																						ENST00000357692.2																			0				breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|urinary_tract(3)	15						c.(430-432)Gaa>Aaa		mesoderm induction early response 1, transcriptional regulator							125	116	118					1																	67424570		1858	4102	5960	SO:0001583	missense	57708				positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity	g.chr1:67424570G>A		CCDS41347.1, CCDS41348.1, CCDS53325.1, CCDS53326.1, CCDS53327.1, CCDS53328.1, CCDS53329.1, CCDS53330.1, CCDS60163.1	1p31.2	2013-07-23	2013-07-23		ENSG00000198160	ENSG00000198160			29657	protein-coding gene	gene with protein product			"mesoderm induction early response 1 homolog (Xenopus laevis)"			12242014, 12482978	Standard	NM_020948		Approved	hMI-ER1, MI-ER1, KIAA1610	uc001dde.2	Q8N108	OTTHUMG00000009194	ENST00000355356.3:c.379G>A	1.37:g.67424570G>A	ENSP00000347514:p.Glu127Lys					MIER1_ENST00000371018.3_Missense_Mutation_p.E144K|MIER1_ENST00000371014.1_Missense_Mutation_p.E180K|MIER1_ENST00000355356.3_Missense_Mutation_p.E127K|MIER1_ENST00000401042.3_Missense_Mutation_p.E127K|MIER1_ENST00000401041.1_Missense_Mutation_p.E180K|MIER1_ENST00000479067.1_3'UTR|MIER1_ENST00000371016.1_Missense_Mutation_p.E144K|MIER1_ENST00000355977.6_Missense_Mutation_p.E64K	p.E144K	NM_001146110.1	NP_001139582.1	Q8N108	MIER1_HUMAN			7	687	+			151			Glu-rich.		C9JFD4|Q08AE0|Q32NC4|Q5T104|Q5TAD1|Q5TAD2|Q5TAD4|Q5TAD5|Q6AHY8|Q86TB4|Q8N156|Q8N161|Q8NC37|Q8NES4|Q8NES5|Q8NES6|Q8WWG2|Q9HCG2	Missense_Mutation	SNP	ENST00000355356.3	37	c.430G>A	CCDS41348.1	.	.	.	.	.	.	.	.	.	.	G	35	5.467607	0.96257	.	.	ENSG00000198160	ENST00000371017;ENST00000371018;ENST00000355977;ENST00000357692;ENST00000401041;ENST00000371016;ENST00000371014;ENST00000401042;ENST00000355356	T;T;T;T;T;T;T;T	0.50548	1.29;0.74;1.29;1.29;1.29;1.29;1.29;1.29	5.6	5.6	0.85130	.	0.266835	0.41294	D	0.000903	T	0.64983	0.2648	M	0.72894	2.215	0.51012	D	0.999901	P;P;P;D;P;P;P;D;P	0.56035	0.558;0.914;0.877;0.974;0.956;0.914;0.799;0.969;0.859	B;B;B;D;D;B;B;P;P	0.70487	0.314;0.359;0.38;0.969;0.931;0.359;0.38;0.766;0.67	T	0.65833	-0.6072	10	0.72032	D	0.01	-28.6429	20.0086	0.97443	0.0:0.0:1.0:0.0	.	144;144;127;127;64;151;144;180;180	Q5TAD2;Q32NC4;Q8N108-3;Q8N108-6;Q08AE0;Q8N108;Q8N108-10;Q5TAD5;Q5TAD4	.;.;.;.;.;MIER1_HUMAN;.;.;.	K	148;144;64;144;180;144;180;127;127	ENSP00000360057:E144K;ENSP00000348253:E64K;ENSP00000350321:E144K;ENSP00000383820:E180K;ENSP00000360055:E144K;ENSP00000360053:E180K;ENSP00000383821:E127K;ENSP00000347514:E127K	ENSP00000347514:E127K	E	+	1	0	MIER1	67197158	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.845000	0.86875	2.814000	0.96858	0.655000	0.94253	GAA		0.368	MIER1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025491.2	NM_020948		22	29	0	0	0	1	0	22	29					A	67424570	G	A	67424570	3	1	356	1	0	0	0	0	1	0	0	0	9580	1291	45	3	637	3	MIER1	1	67424570	Missense_Mutation	SNP	G	TCGA-M7-A724-01A-12D-A32B-08		67424570	181826051	1	17815											
HRNR	388697	broad.mit.edu	37	chr1	152192638	152192638	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gagccgtgttgtccgtggccGgaggagtgacctgagccaga	7	7	17	10	3	0	3	0	2	0	1	1	6	1	5	5	3	2	1	5	3	0	1			TCGA-M7-A724-01A-12D-A32B-08	TCGA-M7-A724-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da45f3a1-439a-45b0-8e3d-9761899018a9	ef22c980-b6f4-4ffc-a877-20515c382c67	g.chr1:152192638G>A	ENST00000368801.2	-	3	1542	c.1467C>T	c.(1465-1467)tcC>tcT	p.S489S	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	489					establishment of skin barrier (GO:0061436)|hematopoietic progenitor cell differentiation (GO:0002244)|keratinization (GO:0031424)	cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GTCCGTGGCCGGAGGAGTGAC	0.542																																						ENST00000368801.2																			0				autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192						c.(1465-1467)tcC>tcT		hornerin							299	280	286					1																	152192638		2203	4300	6503	SO:0001819	synonymous_variant	388697				keratinization		calcium ion binding|protein binding	g.chr1:152192638G>A	AB104446	CCDS30859.1	1q21.3	2013-01-10			ENSG00000197915	ENSG00000197915		"EF-hand domain containing"	20846	protein-coding gene	gene with protein product	"filaggrin family member 3"						Standard	NM_001009931		Approved	S100a18, S100A16, FLG3	uc001ezt.2	Q86YZ3	OTTHUMG00000012243	ENST00000368801.2:c.1467C>T	1.37:g.152192638G>A						FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	p.S489S	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	1542	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		489					Q5DT20|Q5U1F4	Silent	SNP	ENST00000368801.2	37	c.1467C>T	CCDS30859.1																																																																																				0.542	HRNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034016.1	XM_373868		5	251	0	0	0	1	0	5	251					A	152192638	G	A	152192638	2	1	356	1	0	0	0	0	0	0	0	1	7359	1103	39	2		2	HRNR	1	152192638	Silent	SNP	G	TCGA-M7-A724-01A-12D-A32B-08	84768068	152192638	97057983	2	17816											
FCRL5	83416	broad.mit.edu	37	chr1	157491070	157491070	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctgagggtgaggaccgggCgagacaccggaactgaaaga	12	3	16	10	3	0	5	0	3	0	2	0	8	0	7	3	4	1	0	3	4	2	0			TCGA-M7-A724-01A-12D-A32B-08	TCGA-M7-A724-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da45f3a1-439a-45b0-8e3d-9761899018a9	ef22c980-b6f4-4ffc-a877-20515c382c67	g.chr1:157491070C>T	ENST00000361835.3	-	11	2409	c.2252G>A	c.(2251-2253)cGc>cAc	p.R751H	FCRL5_ENST00000356953.4_Missense_Mutation_p.R751H|FCRL5_ENST00000461387.1_5'UTR	NM_001195388.1|NM_031281.2	NP_001182317.1|NP_112571.2	Q96RD9	FCRL5_HUMAN	Fc receptor-like 5	751					negative regulation of B cell receptor signaling pathway (GO:0050859)|negative regulation of release of sequestered calcium ion into cytosol (GO:0051280)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)				breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	85	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)				GAGGACCGGGCGAGACACCGG	0.507																																						ENST00000361835.3																			0				breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	85						c.(2251-2253)cGc>cAc		Fc receptor-like 5							26	30	29					1																	157491070		2203	4298	6501	SO:0001583	missense	83416					integral to membrane|plasma membrane	receptor activity	g.chr1:157491070C>T	AF369794	CCDS1165.1	1q21	2013-01-11			ENSG00000143297	ENSG00000143297		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	18508	protein-coding gene	gene with protein product		605877				11027651, 11290337	Standard	NM_031281		Approved	FCRH5, IRTA2, BXMAS1, CD307e	uc009wsm.3	Q96RD9	OTTHUMG00000017481	ENST00000361835.3:c.2252G>A	1.37:g.157491070C>T	ENSP00000354691:p.Arg751His					FCRL5_ENST00000356953.4_Missense_Mutation_p.R751H|FCRL5_ENST00000461387.1_5'UTR	p.R751H	NM_001195388.1|NM_031281.2	NP_001182317.1|NP_112571.2	Q96RD9	FCRL5_HUMAN			11	2409	-	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)	751					A0N0M2|B7WNT9|B7WP94|Q495Q2|Q495Q4|Q5VYK9|Q6UY46	Missense_Mutation	SNP	ENST00000361835.3	37	c.2252G>A	CCDS1165.1	.	.	.	.	.	.	.	.	.	.	C	9.161	1.018616	0.19355	.	.	ENSG00000143297	ENST00000361835;ENST00000356953	T;T	0.03496	3.91;3.91	5.24	-0.308	0.12773	.	1.311810	0.05566	N	0.570335	T	0.04003	0.0112	M	0.62723	1.935	0.19575	N	0.999962	D;D	0.71674	0.994;0.998	P;D	0.64877	0.565;0.93	T	0.25882	-1.0119	10	0.33940	T	0.23	.	2.8556	0.05571	0.3071:0.3261:0.2811:0.0858	.	751;751	A6NJE8;Q96RD9	.;FCRL5_HUMAN	H	751	ENSP00000354691:R751H;ENSP00000349434:R751H	ENSP00000349434:R751H	R	-	2	0	FCRL5	155757694	0.000000	0.05858	0.146000	0.22360	0.021000	0.10359	-1.382000	0.02546	-0.206000	0.10203	0.650000	0.86243	CGC		0.507	FCRL5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000046263.1	NM_031281		8	24	0	0	0	1	0	8	24					T	157491070	C	T	157491070	3	4	356	1	0	0	0	0	1	0	0	0	5798	768	27	1	709	1	FCRL5	1	157491070	Missense_Mutation	SNP	C	TCGA-M7-A724-01A-12D-A32B-08	5298432	157491070	91759551	3	17817											
CR1L	1379	broad.mit.edu	37	chr1	207867727	207867727	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgggctaccccccaccatcGccaatggagatttcactagc	9	8	9	15	1	1	1	1	0	0	1	2	2	1	1	5	2	2	1	5	2	3	3	rs371954344		TCGA-M7-A724-01A-12D-A32B-08	TCGA-M7-A724-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da45f3a1-439a-45b0-8e3d-9761899018a9	ef22c980-b6f4-4ffc-a877-20515c382c67	g.chr1:207867727G>C	ENST00000508064.2	+	5	553	c.493G>C	c.(493-495)Gcc>Ccc	p.A165P	CR1L_ENST00000530905.1_Intron	NM_175710.1	NP_783641.1	Q2VPA4	CR1L_HUMAN	complement component (3b/4b) receptor 1-like	165	Sushi 3. {ECO:0000255|PROSITE- ProRule:PRU00302}.					cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)|receptor complex (GO:0043235)				endometrium(1)|kidney(1)|large_intestine(2)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						CCCCACCATCGCCAATGGAGA	0.423																																						ENST00000508064.2																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						c.(493-495)Gcc>Ccc		complement component (3b/4b) receptor 1-like							86	81	83					1																	207867727		1890	4114	6004	SO:0001583	missense	1379					cytoplasm|extracellular region|membrane		g.chr1:207867727G>C	AY114160	CCDS44310.1	1q32.1	2008-02-05			ENSG00000197721	ENSG00000197721		"Complement system"	2335	protein-coding gene	gene with protein product		605886				2295627	Standard	NM_175710		Approved		uc001hga.4	Q2VPA4	OTTHUMG00000036354	ENST00000508064.2:c.493G>C	1.37:g.207867727G>C	ENSP00000421736:p.Ala165Pro					CR1L_ENST00000530905.1_Intron	p.A165P	NM_175710.1	NP_783641.1	Q2VPA4	CR1L_HUMAN			5	553	+			165			Sushi 3.		Q32MC9|Q8NEU7	Missense_Mutation	SNP	ENST00000508064.2	37	c.493G>C	CCDS44310.1	.	.	.	.	.	.	.	.	.	.	G	5.802	0.332207	0.10956	.	.	ENSG00000197721	ENST00000444269;ENST00000508064	T	0.61274	0.12	1.86	-0.317	0.12736	Complement control module (2);Sushi/SCR/CCP (3);	.	.	.	.	T	0.35740	0.0942	N	0.16656	0.425	0.22342	N	0.999184	B	0.21452	0.056	B	0.30251	0.113	T	0.27606	-1.0069	9	0.26408	T	0.33	.	3.025	0.06087	0.2017:0.313:0.4853:0.0	.	165	Q2VPA4	CR1L_HUMAN	P	165	ENSP00000421736:A165P	ENSP00000434864:A109P	A	+	1	0	CR1L	205934350	0.000000	0.05858	0.333000	0.25482	0.418000	0.31294	-1.218000	0.02976	-0.080000	0.12685	0.305000	0.20034	GCC		0.423	CR1L-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390247.1	XM_114735		28	34	0	0	0	1	0	28	34					C	207867727	G	C	207867727	3	2	356	1	0	0	0	0	1	0	0	0	3841	1087	38	5	511	5	CR1L	1	207867727	Missense_Mutation	SNP	G	TCGA-M7-A724-01A-12D-A32B-08	50376657	207867727	41382894	4	17818											
TP53BP2	7159	broad.mit.edu	37	chr1	223986326	223986326	+	Frame_Shift_Del	DEL	T	T	-																															aaataaggcaaattaatctgTtttggttttgtaggaacagg																										TCGA-M7-A724-01A-12D-A32B-08	TCGA-M7-A724-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da45f3a1-439a-45b0-8e3d-9761899018a9	ef22c980-b6f4-4ffc-a877-20515c382c67	g.chr1:223986326delT	ENST00000343537.7	-	12	1830	c.1539delA	c.(1537-1539)aaafs	p.K513fs	TP53BP2_ENST00000391879.2_Intron|TP53BP2_ENST00000498843.1_5'UTR|TP53BP2_ENST00000391878.2_Frame_Shift_Del_p.K384fs	NM_001031685.2	NP_001026855.2	Q13625	ASPP2_HUMAN	tumor protein p53 binding protein 2	507					cell cycle (GO:0007049)|central nervous system development (GO:0007417)|embryo development ending in birth or egg hatching (GO:0009792)|heart development (GO:0007507)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|negative regulation of cell cycle (GO:0045786)|positive regulation of signal transduction (GO:0009967)|response to ionizing radiation (GO:0010212)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	identical protein binding (GO:0042802)|NF-kappaB binding (GO:0051059)|SH3/SH2 adaptor activity (GO:0005070)			NS(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(2)	29				GBM - Glioblastoma multiforme(131;0.0958)		AATTAATCTGTTTTGGTTTTG	0.383																																						ENST00000391878.2																			0				NS(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(2)	29						c.(1150-1152)aafs		tumor protein p53 binding protein, 2							71	74	73					1																	223986326		2203	4300	6503	SO:0001589	frameshift_variant	7159				apoptosis|cell cycle|induction of apoptosis|negative regulation of cell cycle|signal transduction	nucleus|perinuclear region of cytoplasm	NF-kappaB binding|protein binding|SH3 domain binding|SH3/SH2 adaptor activity	g.chr1:223986326delT	U09582	CCDS1538.1, CCDS44319.1	1q41	2014-06-24	2014-06-24		ENSG00000143514	ENSG00000143514		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "Ankyrin repeat domain containing"	12000	protein-coding gene	gene with protein product		602143	"tumor protein p53-binding protein, 2"			8668206, 8016121	Standard	NM_005426		Approved	PPP1R13A, ASPP2, 53BP2	uc010pvb.2	Q13625	OTTHUMG00000037379	ENST00000343537.7:c.1539delA	1.37:g.223986326delT	ENSP00000341957:p.Lys513fs					TP53BP2_ENST00000498843.1_5'UTR|TP53BP2_ENST00000343537.7_Frame_Shift_Del_p.K513fs|TP53BP2_ENST00000391879.2_Intron	p.K384fs	NM_005426.2	NP_005417.1	Q13625	ASPP2_HUMAN		GBM - Glioblastoma multiforme(131;0.0958)	13	1920	-			507					B4DG66|Q12892|Q86X75|Q96KQ3	Frame_Shift_Del	DEL	ENST00000343537.7	37	c.1152delA	CCDS44319.1																																																																																				0.383	TP53BP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090985.3	NM_001031685, NM_005426		55	6						55	6	---	---	---	---	-	223986326	T	-	223986326	7	5	356	1	0	1	0	1	0	0	0	0	16381	1722	60	0	1893	0	TP53BP2	1	223986326	Frame_Shift_Del	DEL	T	TCGA-M7-A724-01A-12D-A32B-08	16118599	223986326	25264295	5	17819											
MAP4K3	8491	broad.mit.edu	37	chr2	39517448	39517448	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctacctttggtggcaaaggAggtggaatttttgctttcag	8	15	12	6	0	2	0	1	0	1	0	2	2	2	2	1	5	2	2	1	5	3	5			TCGA-M7-A724-01A-12D-A32B-08	TCGA-M7-A724-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da45f3a1-439a-45b0-8e3d-9761899018a9	ef22c980-b6f4-4ffc-a877-20515c382c67	g.chr2:39517448A>G	ENST00000263881.3	-	19	1623	c.1299T>C	c.(1297-1299)ccT>ccC	p.P433P	MAP4K3_ENST00000474502.1_5'Flank|MAP4K3_ENST00000536018.1_5'UTR|MAP4K3_ENST00000437545.1_Silent_p.P349P|MAP4K3_ENST00000341681.5_Silent_p.P412P	NM_003618.3	NP_003609.2	Q8IVH8	M4K3_HUMAN	mitogen-activated protein kinase kinase kinase kinase 3	433					intracellular signal transduction (GO:0035556)|JNK cascade (GO:0007254)|protein phosphorylation (GO:0006468)|response to tumor necrosis factor (GO:0034612)|response to UV (GO:0009411)		ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			NS(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		all_hematologic(82;0.211)				GTGGCAAAGGAGGTGGAATTT	0.279																																						ENST00000263881.3																			0				NS(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						c.(1297-1299)ccT>ccC		mitogen-activated protein kinase kinase kinase kinase 3							70	75	73					2																	39517448		2203	4298	6501	SO:0001819	synonymous_variant	8491				JNK cascade		ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chr2:39517448A>G	AF000145	CCDS1803.1, CCDS58707.1	2p22.3	2011-06-09			ENSG00000011566	ENSG00000011566		"Mitogen-activated protein kinase cascade / Kinase kinase kinase kinases"	6865	protein-coding gene	gene with protein product		604921		RAB8IPL1		9275185	Standard	NM_003618		Approved	GLK, MAPKKKK3	uc002rro.4	Q8IVH8	OTTHUMG00000102127	ENST00000263881.3:c.1299T>C	2.37:g.39517448A>G						MAP4K3_ENST00000437545.1_Silent_p.P349P|MAP4K3_ENST00000341681.5_Silent_p.P412P|MAP4K3_ENST00000536018.1_5'UTR	p.P433P	NM_003618.3	NP_003609.2	Q8IVH8	M4K3_HUMAN			19	1623	-		all_hematologic(82;0.211)	433					Q6IQ39|Q8IVH7|Q9UDM5|Q9Y6R5	Silent	SNP	ENST00000263881.3	37	c.1299T>C	CCDS1803.1																																																																																				0.279	MAP4K3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219966.2	NM_003618		15	18	0	0	0	1	0	15	18					G	39517448	A	G	39517448	2	3	356	1	0	0	0	0	0	0	0	1	9261	291	11	4		4	MAP4K3	2	39517448	Silent	SNP	A	TCGA-M7-A724-01A-12D-A32B-08		39517448	203681925	6	17820											
MPHOSPH10	10199	broad.mit.edu	37	chr2	71376384	71376384	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agctggagatataaaaacagCtgctgaaaaaacagctacag	19	6	9	7	0	0	2	0	1	0	1	0	3	0	2	0	1	7	4	0	1	8	3			TCGA-M7-A724-01A-12D-A32B-08	TCGA-M7-A724-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da45f3a1-439a-45b0-8e3d-9761899018a9	ef22c980-b6f4-4ffc-a877-20515c382c67	g.chr2:71376384C>T	ENST00000244230.2	+	10	2049	c.1697C>T	c.(1696-1698)gCt>gTt	p.A566V		NM_005791.2	NP_005782.1	O00566	MPP10_HUMAN	M-phase phosphoprotein 10 (U3 small nucleolar ribonucleoprotein)	566					negative regulation of phosphatase activity (GO:0010923)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)|rRNA processing (GO:0006364)	chromosome (GO:0005694)|nucleolus (GO:0005730)|small nucleolar ribonucleoprotein complex (GO:0005732)	poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|pancreas(2)|skin(2)|stomach(1)	26						ATAAAAACAGCTGCTGAAAAA	0.333																																						ENST00000244230.2																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|pancreas(2)|skin(2)|stomach(1)	26						c.(1696-1698)gCt>gTt		M-phase phosphoprotein 10 (U3 small nucleolar ribonucleoprotein)							32	30	31					2																	71376384		2199	4297	6496	SO:0001583	missense	10199				RNA splicing, via transesterification reactions|rRNA processing	chromosome|nucleolus|small nucleolar ribonucleoprotein complex	protein binding	g.chr2:71376384C>T	X98494	CCDS1916.1	2p13.3	2014-06-12			ENSG00000124383	ENSG00000124383			7213	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 106"	605503				8885239, 9450966	Standard	NM_005791		Approved	MPP10, MPP10P, CT90, PPP1R106	uc002sht.2	O00566	OTTHUMG00000129715	ENST00000244230.2:c.1697C>T	2.37:g.71376384C>T	ENSP00000244230:p.Ala566Val						p.A566V	NM_005791.2	NP_005782.1	O00566	MPP10_HUMAN			10	2049	+			566					A0AVJ8	Missense_Mutation	SNP	ENST00000244230.2	37	c.1697C>T	CCDS1916.1	.	.	.	.	.	.	.	.	.	.	C	17.48	3.399069	0.62177	.	.	ENSG00000124383	ENST00000244230;ENST00000425650	T;T	0.10288	2.89;2.89	5.64	1.51	0.23008	.	0.150176	0.64402	D	0.000020	T	0.10121	0.0248	L	0.43152	1.355	0.26712	N	0.97094	P	0.36392	0.551	B	0.40256	0.324	T	0.13656	-1.0501	10	0.37606	T	0.19	.	7.8338	0.29358	0.3885:0.3492:0.2623:0.0	.	566	O00566	MPP10_HUMAN	V	566;426	ENSP00000244230:A566V;ENSP00000393034:A426V	ENSP00000244230:A566V	A	+	2	0	MPHOSPH10	71229892	0.960000	0.32886	0.997000	0.53966	0.997000	0.91878	1.828000	0.39111	0.806000	0.34183	0.655000	0.94253	GCT		0.333	MPHOSPH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251924.2	NM_005791		6	8	0	0	0	1	0	6	8					T	71376384	C	T	71376384	3	4	356	1	0	0	0	0	1	0	0	0	9725	797	28	3	1735	3	MPHOSPH10	2	71376384	Missense_Mutation	SNP	C	TCGA-M7-A724-01A-12D-A32B-08	31858936	71376384	171822989	7	17821											
TEKT4	150483	broad.mit.edu	37	chr2	95539305	95539305	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cattcaggagctgctgaagaGaaccatcatgcaagcagtga	14	7	11	9	0	2	3	2	2	0	1	2	5	2	4	1	1	5	4	1	1	3	1			TCGA-M7-A724-01A-12D-A32B-08	TCGA-M7-A724-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da45f3a1-439a-45b0-8e3d-9761899018a9	ef22c980-b6f4-4ffc-a877-20515c382c67	g.chr2:95539305G>A	ENST00000295201.4	+	2	676	c.539G>A	c.(538-540)aGa>aAa	p.R180K	AC097374.2_ENST00000568768.1_RNA	NM_144705.2	NP_653306.1	Q8WW24	TEKT4_HUMAN	tektin 4	180					cell projection organization (GO:0030030)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|motile cilium (GO:0031514)|nucleus (GO:0005634)				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	28						CTGCTGAAGAGAACCATCATG	0.607																																						ENST00000295201.4																			0				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	28						c.(538-540)aGa>aAa		tektin 4							80	70	74					2																	95539305		2203	4300	6503	SO:0001583	missense	150483				cell projection organization|microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule		g.chr2:95539305G>A	AK097438	CCDS2005.1	2q11.2	2008-02-05			ENSG00000163060	ENSG00000163060			31012	protein-coding gene	gene with protein product							Standard	XM_005263876		Approved	MGC27019	uc002stw.1	Q8WW24	OTTHUMG00000130396	ENST00000295201.4:c.539G>A	2.37:g.95539305G>A	ENSP00000295201:p.Arg180Lys					AC097374.2_ENST00000568768.1_RNA	p.R180K	NM_144705.2	NP_653306.1	Q8WW24	TEKT4_HUMAN			2	676	+			180						Missense_Mutation	SNP	ENST00000295201.4	37	c.539G>A	CCDS2005.1	.	.	.	.	.	.	.	.	.	.	.	9.047	0.991079	0.18966	.	.	ENSG00000163060	ENST00000295201	T	0.02323	4.34	1.71	1.71	0.24356	.	0.103704	0.64402	D	0.000004	T	0.02230	0.0069	L	0.33753	1.03	0.80722	D	1	B	0.16396	0.017	B	0.23018	0.043	T	0.47573	-0.9107	10	0.11485	T	0.65	-4.0252	6.8102	0.23801	0.0:0.0:1.0:0.0	.	180	Q8WW24	TEKT4_HUMAN	K	180	ENSP00000295201:R180K	ENSP00000295201:R180K	R	+	2	0	TEKT4	94903032	1.000000	0.71417	0.997000	0.53966	0.770000	0.43624	2.107000	0.41844	0.941000	0.37499	0.306000	0.20318	AGA		0.607	TEKT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252777.1	NM_144705		16	24	0	0	0	1	0	16	24					A	95539305	G	A	95539305	3	1	356	1	0	0	0	0	1	0	0	0	15752	942	33	3	545	3	TEKT4	2	95539305	Missense_Mutation	SNP	G	TCGA-M7-A724-01A-12D-A32B-08	24162921	95539305	147660068	8	17822											
VWA3B	200403	broad.mit.edu	37	chr2	98737795	98737795	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgtgaagtggcaggaaaaTgctactcctgtgaccgaaca	12	8	11	10	1	0	2	0	2	0	0	1	4	1	3	3	2	3	2	3	2	5	1			TCGA-M7-A724-01A-12D-A32B-08	TCGA-M7-A724-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da45f3a1-439a-45b0-8e3d-9761899018a9	ef22c980-b6f4-4ffc-a877-20515c382c67	g.chr2:98737795T>A	ENST00000477737.1	+	5	780	c.576T>A	c.(574-576)aaT>aaA	p.N192K	VWA3B_ENST00000435344.1_Missense_Mutation_p.N192K|VWA3B_ENST00000451075.2_Missense_Mutation_p.N42K	NM_144992.4	NP_659429.4	Q502W6	VWA3B_HUMAN	von Willebrand factor A domain containing 3B	192										NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						GGCAGGAAAATGCTACTCCTG	0.542																																						ENST00000477737.1																			0				NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						c.(574-576)aaT>aaA		von Willebrand factor A domain containing 3B							70	75	74					2																	98737795		1979	4180	6159	SO:0001583	missense	200403							g.chr2:98737795T>A	AL832761	CCDS42718.1	2q11.2	2008-02-05			ENSG00000168658	ENSG00000168658			28385	protein-coding gene	gene with protein product						12477932	Standard	NM_144992		Approved	DKFZp686F2227, MGC26733	uc002syo.3	Q502W6	OTTHUMG00000153104	ENST00000477737.1:c.576T>A	2.37:g.98737795T>A	ENSP00000417955:p.Asn192Lys					VWA3B_ENST00000451075.2_Missense_Mutation_p.N42K|VWA3B_ENST00000435344.1_Missense_Mutation_p.N192K	p.N192K	NM_144992.4	NP_659429.4	Q502W6	VWA3B_HUMAN			5	780	+			192					B9EK71|Q86T73|Q8N2D0|Q8N770|Q8NA79|Q8ND63|Q8ND65|Q8WW02	Missense_Mutation	SNP	ENST00000477737.1	37	c.576T>A	CCDS42718.1	.	.	.	.	.	.	.	.	.	.	T	10.88	1.474731	0.26511	.	.	ENSG00000168658	ENST00000435344;ENST00000477737;ENST00000451075	T;T;T	0.12672	3.22;3.22;2.66	5.48	-6.64	0.01801	.	1.327200	0.04625	N	0.402677	T	0.07728	0.0194	L	0.43152	1.355	0.09310	N	1	B;B;B	0.20550	0.003;0.046;0.021	B;B;B	0.17098	0.002;0.013;0.017	T	0.38585	-0.9654	10	0.06099	T	0.92	.	2.6703	0.05065	0.1715:0.363:0.0952:0.3703	.	42;192;192	B7Z7Q7;Q502W6;Q502W6-8	.;VWA3B_HUMAN;.	K	192;192;42	ENSP00000401959:N192K;ENSP00000417955:N192K;ENSP00000389463:N42K	ENSP00000411168:N192K	N	+	3	2	VWA3B	98104227	0.000000	0.05858	0.002000	0.10522	0.914000	0.54420	-0.936000	0.03946	-0.760000	0.04677	-0.316000	0.08728	AAT		0.542	VWA3B-020	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353469.2	NM_144992		6	30	0	0	0	1	0	6	30					A	98737795	T	A	98737795	3	1	356	1	0	0	0	0	1	0	0	0	17238	1461	51	5	590	5	VWA3B	2	98737795	Missense_Mutation	SNP	T	TCGA-M7-A724-01A-12D-A32B-08	3198490	98737795	144461578	9	17823											
ST6GAL2	84620	broad.mit.edu	37	chr2	107459777	107459777	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcatcgccttctgcaggcgCgggttcagcattttggaaga	7	12	12	10	3	3	1	2	0	1	1	4	2	3	2	1	3	2	3	1	3	1	5			TCGA-M7-A724-01A-12D-A32B-08	TCGA-M7-A724-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da45f3a1-439a-45b0-8e3d-9761899018a9	ef22c980-b6f4-4ffc-a877-20515c382c67	g.chr2:107459777C>T	ENST00000409382.3	-	2	1267	c.657G>A	c.(655-657)ccG>ccA	p.P219P	ST6GAL2_ENST00000409087.3_Silent_p.P219P|ST6GAL2_ENST00000361686.4_Silent_p.P219P|AC016994.2_ENST00000425419.1_RNA	NM_001142351.1	NP_001135823.1	Q96JF0	SIAT2_HUMAN	ST6 beta-galactosamide alpha-2,6-sialyltranferase 2	219					growth (GO:0040007)|multicellular organismal development (GO:0007275)|oligosaccharide metabolic process (GO:0009311)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	beta-galactoside alpha-2,6-sialyltransferase activity (GO:0003835)			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(30)|ovary(5)|pancreas(6)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	65						TCTGCAGGCGCGGGTTCAGCA	0.642																																						ENST00000409382.3																			0				autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(30)|ovary(5)|pancreas(6)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	65						c.(655-657)ccG>ccA		ST6 beta-galactosamide alpha-2,6-sialyltranferase 2							41	42	42					2																	107459777		2203	4300	6503	SO:0001819	synonymous_variant	84620				growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation	Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,6-sialyltransferase activity	g.chr2:107459777C>T	AB059555	CCDS2073.1, CCDS46380.1	2q11-q12	2008-02-05	2005-02-07	2005-02-07	ENSG00000144057	ENSG00000144057	2.4.99.2		10861	protein-coding gene	gene with protein product		608472	"sialyltransferase 2 (monosialoganglioside sialyltransferase)"	SIAT2			Standard	NM_032528		Approved	KIAA1877, St6gal2, St6GalII	uc002tdr.3	Q96JF0	OTTHUMG00000130923	ENST00000409382.3:c.657G>A	2.37:g.107459777C>T						ST6GAL2_ENST00000361686.4_Silent_p.P219P|ST6GAL2_ENST00000409087.3_Silent_p.P219P	p.P219P	NM_001142351.1	NP_001135823.1	Q96JF0	SIAT2_HUMAN			2	1267	-			219					D3DVK3|Q53QP4|Q86Y44|Q8IUG7|Q96HE4	Silent	SNP	ENST00000409382.3	37	c.657G>A	CCDS2073.1																																																																																				0.642	ST6GAL2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330065.1	NM_032528		11	7	0	0	0	1	0	11	7					T	107459777	C	T	107459777	2	4	356	1	0	0	0	0	0	0	0	1	15221	755	27	1		1	ST6GAL2	2	107459777	Silent	SNP	C	TCGA-M7-A724-01A-12D-A32B-08	8721982	107459777	135739596	10	17824											
PARD3B	117583	broad.mit.edu	37	chr2	205989150	205989150	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tttaccaaagggagcagcaaTaaaagatggccgcctacaat	16	7	9	9	1	0	1	0	0	0	1	0	2	0	2	3	2	4	2	3	2	7	4			TCGA-M7-A724-01A-12D-A32B-08	TCGA-M7-A724-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da45f3a1-439a-45b0-8e3d-9761899018a9	ef22c980-b6f4-4ffc-a877-20515c382c67	g.chr2:205989150T>A	ENST00000406610.2	+	9	1472	c.1265T>A	c.(1264-1266)aTa>aAa	p.I422K	PARD3B_ENST00000351153.1_Missense_Mutation_p.I422K|PARD3B_ENST00000462231.1_Missense_Mutation_p.I422K|PARD3B_ENST00000358768.2_Missense_Mutation_p.I422K|PARD3B_ENST00000349953.3_Missense_Mutation_p.I422K	NM_057177.6|NM_152526.5|NM_205863.3	NP_476518.4|NP_689739.4|NP_995585.2	Q8TEW8	PAR3L_HUMAN	par-3 family cell polarity regulator beta	422	PDZ 2. {ECO:0000255|PROSITE- ProRule:PRU00143}.				cell cycle (GO:0007049)|cell division (GO:0051301)	membrane (GO:0016020)|tight junction (GO:0005923)				breast(1)|endometrium(9)|kidney(2)|large_intestine(6)|liver(4)|lung(33)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	65		all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06)		Epithelial(149;0.0739)		GGAGCAGCAATAAAAGATGGC	0.393																																						ENST00000406610.2																			0				breast(1)|endometrium(9)|kidney(2)|large_intestine(6)|liver(4)|lung(33)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	65						c.(1264-1266)aTa>aAa		par-3 family cell polarity regulator beta							93	86	88					2																	205989150		1810	4082	5892	SO:0001583	missense	117583				cell cycle|cell division	endomembrane system|tight junction		g.chr2:205989150T>A	AB053321	CCDS42804.1, CCDS42805.1, CCDS42806.1	2q33.3	2013-08-28	2013-08-28	2006-09-28	ENSG00000116117	ENSG00000116117			14446	protein-coding gene	gene with protein product			"amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 19", "par-3 partitioning defective 3 homolog B (C. elegans)"	ALS2CR19		11586298, 12459187	Standard	NM_057177		Approved	Par3L, PAR3beta	uc002vap.2	Q8TEW8	OTTHUMG00000154562	ENST00000406610.2:c.1265T>A	2.37:g.205989150T>A	ENSP00000385848:p.Ile422Lys					PARD3B_ENST00000358768.2_Missense_Mutation_p.I422K|PARD3B_ENST00000462231.1_Missense_Mutation_p.I422K|PARD3B_ENST00000351153.1_Missense_Mutation_p.I422K|PARD3B_ENST00000349953.3_Missense_Mutation_p.I422K	p.I422K	NM_057177.6|NM_152526.5|NM_205863.3	NP_476518.4|NP_689739.4|NP_995585.2	Q8TEW8	PAR3L_HUMAN		Epithelial(149;0.0739)	9	1472	+		all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06)	422			PDZ 2.		E9PE87|Q8IUC7|Q8IUC9|Q96DK9|Q96N09|Q96NX6|Q96NX7|Q96Q29	Missense_Mutation	SNP	ENST00000406610.2	37	c.1265T>A		.	.	.	.	.	.	.	.	.	.	T	21.6	4.168889	0.78339	.	.	ENSG00000116117	ENST00000406610;ENST00000358768;ENST00000351153;ENST00000349953	T;T;T;T	0.23348	1.91;1.91;1.91;1.91	5.94	5.94	0.96194	PDZ/DHR/GLGF (4);	0.200934	0.52532	D	0.000070	T	0.34919	0.0914	N	0.12182	0.205	0.58432	D	0.999996	B;B;B;B;B	0.33637	0.213;0.007;0.42;0.016;0.041	B;B;P;B;B	0.55545	0.424;0.041;0.778;0.114;0.279	T	0.45175	-0.9279	10	0.66056	D	0.02	.	16.3908	0.83537	0.0:0.0:0.0:1.0	.	422;422;422;422;422	Q8TEW8-3;Q8TEW8;E9PE87;Q8TEW8-2;Q8TEW8-5	.;PAR3L_HUMAN;.;.;.	K	422	ENSP00000385848:I422K;ENSP00000351618:I422K;ENSP00000317261:I422K;ENSP00000340280:I422K	ENSP00000340280:I422K	I	+	2	0	PARD3B	205697395	1.000000	0.71417	0.999000	0.59377	0.987000	0.75469	7.662000	0.83803	2.269000	0.75478	0.455000	0.32223	ATA		0.393	PARD3B-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000335992.1	NM_057177		12	98	0	0	0	1	0	12	98					A	205989150	T	A	205989150	3	1	356	1	0	0	0	0	1	0	0	0	11444	1406	49	5	1299	5	PARD3B	2	205989150	Missense_Mutation	SNP	T	TCGA-M7-A724-01A-12D-A32B-08	98529373	205989150	37210223	11	17825											
STAB1	23166	broad.mit.edu	37	chr3	52551013	52551013	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cccttagaggtggacccctgCgcccacggccatgggggctg	5	6	15	15	2	0	1	0	0	0	1	0	2	0	2	5	5	1	1	5	5	1	1	rs530152456	byFrequency	TCGA-M7-A724-01A-12D-A32B-08	TCGA-M7-A724-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da45f3a1-439a-45b0-8e3d-9761899018a9	ef22c980-b6f4-4ffc-a877-20515c382c67	g.chr3:52551013C>T	ENST00000321725.6	+	42	4453	c.4377C>T	c.(4375-4377)tgC>tgT	p.C1459C		NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN	stabilin 1	1459	EGF-like 11. {ECO:0000255|PROSITE- ProRule:PRU00076, ECO:0000305}.				cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|defense response to bacterium (GO:0042742)|inflammatory response (GO:0006954)|negative regulation of angiogenesis (GO:0016525)|oxidation-reduction process (GO:0055114)|receptor-mediated endocytosis (GO:0006898)	endocytic vesicle membrane (GO:0030666)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	hyaluronic acid binding (GO:0005540)|low-density lipoprotein particle binding (GO:0030169)|low-density lipoprotein receptor activity (GO:0005041)|protein disulfide oxidoreductase activity (GO:0015035)|scavenger receptor activity (GO:0005044)			breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		TGGACCCCTGCGCCCACGGCC	0.662													c|||	5	0.000998403	0	0	5008	,	,		15545	0		0	False		,,,				2504	0.0051					ENST00000321725.6																			0				breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76						c.(4375-4377)tgC>tgT		stabilin 1							43	48	46					3																	52551013		2203	4299	6502	SO:0001819	synonymous_variant	23166				cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity	g.chr3:52551013C>T	AJ275213	CCDS33768.1	3p21.31	2008-07-18			ENSG00000010327	ENSG00000010327			18628	protein-coding gene	gene with protein product	"MS-1 antigen", "fasciclin egf-like, laminin-type egf-like, and link domain-containing scavenger receptor-1", "common lymphatic endothelial and vascular endothelial receptor-1"	608560				11829752, 12077138	Standard	XM_005264973		Approved	KIAA0246, STAB-1, FEEL-1, CLEVER-1, FELE-1, FEX1	uc003dej.3	Q9NY15	OTTHUMG00000158574	ENST00000321725.6:c.4377C>T	3.37:g.52551013C>T							p.C1459C	NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)	42	4453	+			1459			EGF-like 11.		A7E297|Q8IUH0|Q8IUH1|Q93072	Silent	SNP	ENST00000321725.6	37	c.4377C>T	CCDS33768.1																																																																																				0.662	STAB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351380.2	NM_015136		32	31	0	0	0	1	0	32	31					T	52551013	C	T	52551013	2	4	356	1	0	0	0	0	0	0	0	1	15236	776	27	1		1	STAB1	3	52551013	Silent	SNP	C	TCGA-M7-A724-01A-12D-A32B-08		52551013	145471417	12	17826											
ROBO1	6091	broad.mit.edu	37	chr3	78685178	78685178	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tttgttactaaggtccacatCaccataaacagttgactcag	13	12	6	10	0	2	1	2	1	0	0	3	1	3	1	2	1	2	2	2	1	4	5			TCGA-M7-A724-01A-12D-A32B-08	TCGA-M7-A724-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da45f3a1-439a-45b0-8e3d-9761899018a9	ef22c980-b6f4-4ffc-a877-20515c382c67	g.chr3:78685178C>G	ENST00000464233.1	-	23	3231	c.3118G>C	c.(3118-3120)Gat>Cat	p.D1040H	ROBO1_ENST00000436010.2_Missense_Mutation_p.D1001H|ROBO1_ENST00000467549.1_Intron|ROBO1_ENST00000495273.1_Missense_Mutation_p.D995H	NM_002941.3	NP_002932.1	Q9Y6N7	ROBO1_HUMAN	roundabout, axon guidance receptor, homolog 1 (Drosophila)	1040					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|cell adhesion (GO:0007155)|cell migration involved in sprouting angiogenesis (GO:0002042)|chemorepulsion involved in postnatal olfactory bulb interneuron migration (GO:0021836)|homophilic cell adhesion (GO:0007156)|mammary duct terminal end bud growth (GO:0060763)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|negative regulation of negative chemotaxis (GO:0050925)|nervous system development (GO:0007399)|positive regulation of axonogenesis (GO:0050772)|Roundabout signaling pathway (GO:0035385)	axolemma (GO:0030673)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	axon guidance receptor activity (GO:0008046)|identical protein binding (GO:0042802)|LRR domain binding (GO:0030275)			breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1)	44		Lung SC(41;0.0257)|Lung NSC(201;0.0439)		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)		AGGTCCACATCACCATAAACA	0.398																																						ENST00000436010.2																			0				breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1)	44						c.(3001-3003)Gat>Cat		roundabout, axon guidance receptor, homolog 1 (Drosophila)							92	92	92					3																	78685178		1959	4144	6103	SO:0001583	missense	6091				activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis|Roundabout signaling pathway	cell surface|cytoplasm|integral to plasma membrane	axon guidance receptor activity|identical protein binding|LRR domain binding	g.chr3:78685178C>G	AF040990	CCDS46872.1, CCDS46872.2, CCDS54610.1, CCDS54611.1	3p12.3	2013-02-11	2001-11-28		ENSG00000169855	ENSG00000169855		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	10249	protein-coding gene	gene with protein product		602430	"roundabout (axon guidance receptor, Drosophila) homolog 1"			9458045, 9608531	Standard	NM_002941		Approved	DUTT1, FLJ21882, SAX3	uc003dqe.2	Q9Y6N7	OTTHUMG00000158843	ENST00000464233.1:c.3118G>C	3.37:g.78685178C>G	ENSP00000420321:p.Asp1040His					ROBO1_ENST00000464233.1_Missense_Mutation_p.D1040H|ROBO1_ENST00000495273.1_Missense_Mutation_p.D995H|ROBO1_ENST00000467549.1_Intron	p.D1001H			Q9Y6N7	ROBO1_HUMAN		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)	21	3998	-		Lung SC(41;0.0257)|Lung NSC(201;0.0439)	1040					B2RXI1|D3DU36|E9PD49|Q1RMC7|Q7Z300|Q9BUS7	Missense_Mutation	SNP	ENST00000464233.1	37	c.3001G>C	CCDS54611.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.020101	0.75275	.	.	ENSG00000169855	ENST00000436010;ENST00000398412;ENST00000464233;ENST00000495273;ENST00000398414	T;T;T	0.63744	-0.02;-0.06;0.12	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	T	0.76176	0.3951	L	0.51422	1.61	0.80722	D	1	D;B;D;D	0.89917	1.0;0.035;0.999;0.987	D;B;D;D	0.87578	0.998;0.017;0.934;0.935	T	0.72391	-0.4308	9	.	.	.	.	20.1875	0.98223	0.0:1.0:0.0:0.0	.	1004;1040;995;1001	Q9Y6N7-3;Q9Y6N7;B2RXI1;Q9Y6N7-4	.;ROBO1_HUMAN;.;.	H	1001;995;1040;995;1044	ENSP00000406043:D1001H;ENSP00000420321:D1040H;ENSP00000420637:D995H	.	D	-	1	0	ROBO1	78767868	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	5.755000	0.68750	2.760000	0.94817	0.644000	0.83932	GAT		0.398	ROBO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352610.1	NM_002941		21	32	0	0	0	1	0	21	32					G	78685178	C	G	78685178	3	3	356	1	0	0	0	0	1	0	0	0	13513	826	29	5	1873	5	ROBO1	3	78685178	Missense_Mutation	SNP	C	TCGA-M7-A724-01A-12D-A32B-08	26134165	78685178	119337252	13	17827											
ZFYVE16	9765	broad.mit.edu	37	chr5	79741159	79741159	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtgaagttgcagatacaacaAaattatcatctggaagtaaa	18	10	8	5	0	2	2	1	1	1	1	2	3	2	3	0	1	3	3	0	1	9	4			TCGA-M7-A724-01A-12D-A32B-08	TCGA-M7-A724-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da45f3a1-439a-45b0-8e3d-9761899018a9	ef22c980-b6f4-4ffc-a877-20515c382c67	g.chr5:79741159A>G	ENST00000338008.5	+	6	2839	c.2659A>G	c.(2659-2661)Aaa>Gaa	p.K887E	ZFYVE16_ENST00000505560.1_Missense_Mutation_p.K887E|ZFYVE16_ENST00000510158.1_Missense_Mutation_p.K887E	NM_001284236.1|NM_014733.3	NP_001271165.1|NP_055548	Q7Z3T8	ZFY16_HUMAN	zinc finger, FYVE domain containing 16	887					BMP signaling pathway (GO:0030509)|endosomal transport (GO:0016197)|protein targeting to lysosome (GO:0006622)|regulation of endocytosis (GO:0030100)|signal transduction (GO:0007165)|vesicle organization (GO:0016050)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|early endosome membrane (GO:0031901)|intracellular membrane-bounded organelle (GO:0043231)	1-phosphatidylinositol binding (GO:0005545)|metal ion binding (GO:0046872)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|protein transporter activity (GO:0008565)			breast(4)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|liver(1)|lung(6)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Lung NSC(167;0.00428)|all_lung(232;0.00455)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;1.6e-46)|Epithelial(54;2.02e-41)|all cancers(79;5.05e-36)		AGATACAACAAAATTATCATC	0.348																																					Melanoma(150;1452 1854 16018 17851 37292)	ENST00000338008.5																			0				breast(4)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|liver(1)|lung(6)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51						c.(2659-2661)Aaa>Gaa		zinc finger, FYVE domain containing 16							120	114	116					5																	79741159		2203	4299	6502	SO:0001583	missense	9765				BMP signaling pathway|endosome transport|protein targeting to lysosome|regulation of endocytosis|vesicle organization	early endosome membrane	1-phosphatidylinositol binding|metal ion binding|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|protein transporter activity	g.chr5:79741159A>G	AB002303	CCDS4050.1	5q14.1	2012-09-20			ENSG00000039319	ENSG00000039319		"Zinc fingers, FYVE domain containing", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	20756	protein-coding gene	gene with protein product	"endofin", "protein phosphatase 1, regulatory subunit 69"	608880				11546807	Standard	NM_014733		Approved	KIAA0305, PPP1R69	uc003kgq.4	Q7Z3T8	OTTHUMG00000108178	ENST00000338008.5:c.2659A>G	5.37:g.79741159A>G	ENSP00000337159:p.Lys887Glu					ZFYVE16_ENST00000510158.1_Missense_Mutation_p.K887E|ZFYVE16_ENST00000505560.1_Missense_Mutation_p.K887E	p.K887E	NM_014733.3	NP_055548.3	Q7Z3T8	ZFY16_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;1.6e-46)|Epithelial(54;2.02e-41)|all cancers(79;5.05e-36)	6	2839	+		Lung NSC(167;0.00428)|all_lung(232;0.00455)|Ovarian(174;0.0261)	887					O15023|Q5H9U2|Q7LAU7|Q86T69|Q8N5L3|Q8NEK3	Missense_Mutation	SNP	ENST00000338008.5	37	c.2659A>G	CCDS4050.1	.	.	.	.	.	.	.	.	.	.	A	17.79	3.475537	0.63737	.	.	ENSG00000039319	ENST00000338008;ENST00000510158;ENST00000505560	T;T;T	0.41758	0.99;0.99;0.99	6.07	6.07	0.98685	.	0.000000	0.64402	D	0.000004	T	0.57989	0.2091	M	0.77103	2.36	0.34728	D	0.729456	P	0.46784	0.884	P	0.51974	0.686	T	0.68006	-0.5523	10	0.31617	T	0.26	-26.7919	16.3021	0.82825	1.0:0.0:0.0:0.0	.	887	Q7Z3T8	ZFY16_HUMAN	E	887	ENSP00000337159:K887E;ENSP00000423663:K887E;ENSP00000426848:K887E	ENSP00000337159:K887E	K	+	1	0	ZFYVE16	79776915	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.489000	0.73641	2.326000	0.78906	0.533000	0.62120	AAA		0.348	ZFYVE16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226982.2	NM_014733		21	33	0	0	0	1	0	21	33					G	79741159	A	G	79741159	3	3	356	1	0	0	0	0	1	0	0	0	17661	15	1	4	2677	4	ZFYVE16	5	79741159	Missense_Mutation	SNP	A	TCGA-M7-A724-01A-12D-A32B-08		79741159	101174101	14	17828											
PCDHA1	56147	broad.mit.edu	37	chr5	140165935	140165935	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctgcttctttggcttctgctCctcgcagcctgggaggtggg	2	13	14	12	1	2	0	0	0	2	0	4	1	3	1	2	4	3	4	2	4	0	3			TCGA-M7-A724-01A-12D-A32B-08	TCGA-M7-A724-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da45f3a1-439a-45b0-8e3d-9761899018a9	ef22c980-b6f4-4ffc-a877-20515c382c67	g.chr5:140165935C>A	ENST00000504120.2	+	1	60	c.60C>A	c.(58-60)ctC>ctA	p.L20L	PCDHA1_ENST00000394633.3_Silent_p.L20L|PCDHA1_ENST00000378133.3_Silent_p.L20L	NM_018900.2	NP_061723.1	Q9Y5I3	PCDA1_HUMAN	protocadherin alpha 1	20					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3)	70			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGCTTCTGCTCCTCGCAGCCT	0.592																																						ENST00000504120.2																			0				breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3)	70						c.(58-60)ctC>ctA									58	70	66					5																	140165935		2203	4300	6503	SO:0001819	synonymous_variant	0							g.chr5:140165935C>A	AF152479	CCDS54912.1, CCDS54913.1	5q31	2010-11-26				ENSG00000204970		"Cadherins / Protocadherins : Clustered"	8663	other	complex locus constituent	"KIAA0345-like 13"	606307				10380929	Standard	NM_018900		Approved			Q9Y5I3		ENST00000504120.2:c.60C>A	5.37:g.140165935C>A						PCDHA1_ENST00000378133.3_Silent_p.L20L|PCDHA1_ENST00000394633.3_Silent_p.L20L	p.L20L	NM_018900.2	NP_061723.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	60	+								O75288|Q9NRT7	Silent	SNP	ENST00000504120.2	37	c.60C>A	CCDS54913.1																																																																																				0.592	PCDHA1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000389127.1	NM_018900		6	111	1	0	3.59834e-05	1	3.59834e-05	6	111					A	140165935	C	A	140165935	2	1	356	1	0	0	0	0	0	0	0	1	11519	842	30	5		5	PCDHA1	5	140165935	Silent	SNP	C	TCGA-M7-A724-01A-12D-A32B-08	60424776	140165935	40749325	15	17829											
PDGFRB	5159	broad.mit.edu	37	chr5	149497216	149497216	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaccctccagtgggccctcGtcagcaacctcgggtttggg	6	8	13	14	2	1	0	1	0	0	0	4	1	2	0	4	3	3	2	4	3	2	1	rs569140859		TCGA-M7-A724-01A-12D-A32B-08	TCGA-M7-A724-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da45f3a1-439a-45b0-8e3d-9761899018a9	ef22c980-b6f4-4ffc-a877-20515c382c67	g.chr5:149497216G>A	ENST00000261799.4	-	22	3571	c.3102C>T	c.(3100-3102)gaC>gaT	p.D1034D		NM_002609.3	NP_002600.1	P09619	PGFRB_HUMAN	platelet-derived growth factor receptor, beta polypeptide	1034					adrenal gland development (GO:0030325)|aorta morphogenesis (GO:0035909)|cardiac myofibril assembly (GO:0055003)|cell chemotaxis (GO:0060326)|cell migration (GO:0016477)|cell migration involved in coronary angiogenesis (GO:0060981)|cell migration involved in vasculogenesis (GO:0035441)|cellular response to platelet-derived growth factor stimulus (GO:0036120)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|glycosaminoglycan biosynthetic process (GO:0006024)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inner ear development (GO:0048839)|metanephric comma-shaped body morphogenesis (GO:0072278)|metanephric glomerular capillary formation (GO:0072277)|metanephric glomerular mesangial cell proliferation involved in metanephros development (GO:0072262)|metanephric mesenchymal cell migration (GO:0035789)|metanephric mesenchyme development (GO:0072075)|metanephric S-shaped body morphogenesis (GO:0072284)|negative regulation of apoptotic process (GO:0043066)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol metabolic process (GO:0046488)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|platelet-derived growth factor receptor-beta signaling pathway (GO:0035791)|positive regulation of calcium ion import (GO:0090280)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell proliferation by VEGF-activated platelet derived growth factor receptor signaling pathway (GO:0038091)|positive regulation of chemotaxis (GO:0050921)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway (GO:0035793)|positive regulation of mitosis (GO:0045840)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of smooth muscle cell migration (GO:0014911)|positive regulation of smooth muscle cell proliferation (GO:0048661)|protein autophosphorylation (GO:0046777)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to estradiol (GO:0032355)|response to fluid shear stress (GO:0034405)|response to hydrogen peroxide (GO:0042542)|response to hyperoxia (GO:0055093)|response to retinoic acid (GO:0032526)|response to toxic substance (GO:0009636)|retina vasculature development in camera-type eye (GO:0061298)|signal transduction (GO:0007165)|skeletal system morphogenesis (GO:0048705)|smooth muscle cell chemotaxis (GO:0071670)|smooth muscle tissue development (GO:0048745)|tissue homeostasis (GO:0001894)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intrinsic component of plasma membrane (GO:0031226)|lysosome (GO:0005764)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|platelet activating factor receptor activity (GO:0004992)|platelet-derived growth factor beta-receptor activity (GO:0005019)|platelet-derived growth factor binding (GO:0048407)|platelet-derived growth factor receptor binding (GO:0005161)|platelet-derived growth factor-activated receptor activity (GO:0005017)|protein kinase binding (GO:0019901)|protein tyrosine kinase activity (GO:0004713)|receptor binding (GO:0005102)|vascular endothelial growth factor binding (GO:0038085)			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(3)|prostate(3)|skin(3)|stomach(6)|urinary_tract(1)	75		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	GTGGGCCCTCGTCAGCAACCT	0.602			T	"ETV6, TRIP11, HIP1, RAB5EP, H4, NIN, HCMOGT-1, PDE4DIP"	"MPD, AML, CMML, CML"								G|||	1	0.000199681	0	0	5008	,	,		15763	0		0	False		,,,				2504	0.001					ENST00000261799.4				Dom	yes		5	5q31-q32	5159	T	"platelet-derived growth factor receptor, beta polypeptide"			L	"ETV6, TRIP11, HIP1, RAB5EP, H4, NIN, HCMOGT-1, PDE4DIP"		"MPD, AML, CMML, CML"		0				breast(3)|central_nervous_system(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(3)|prostate(3)|skin(3)|stomach(6)|urinary_tract(1)	75						c.(3100-3102)gaC>gaT		platelet-derived growth factor receptor, beta polypeptide	Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)						67	66	66					5																	149497216		2203	4300	6503	SO:0001819	synonymous_variant	5159				aorta morphogenesis|cardiac myofibril assembly|hemopoiesis|metanephric glomerular capillary formation|metanephric glomerular mesangial cell proliferation involved in metanephros development|peptidyl-tyrosine phosphorylation|positive regulation of calcium ion import|positive regulation of chemotaxis|positive regulation of DNA biosynthetic process|positive regulation of ERK1 and ERK2 cascade|positive regulation of MAP kinase activity|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of mitosis|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|protein autophosphorylation|regulation of actin cytoskeleton organization|retina vasculature development in camera-type eye|smooth muscle cell chemotaxis	apical plasma membrane|cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|vascular endothelial growth factor receptor activity	g.chr5:149497216G>A	M21616	CCDS4303.1	5q33.1	2013-01-29			ENSG00000113721	ENSG00000113721		"CD molecules", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	8804	protein-coding gene	gene with protein product		173410		PDGFR			Standard	XM_005268464		Approved	JTK12, CD140b, PDGFR1	uc003lro.3	P09619	OTTHUMG00000130053	ENST00000261799.4:c.3102C>T	5.37:g.149497216G>A							p.D1034D	NM_002609.3	NP_002600.1	P09619	PGFRB_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		22	3571	-		all_hematologic(541;0.224)	1034					B5A957|Q8N5L4	Silent	SNP	ENST00000261799.4	37	c.3102C>T	CCDS4303.1																																																																																				0.602	PDGFRB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252332.1	NM_002609		20	21	0	0	0	1	0	20	21					A	149497216	G	A	149497216	2	1	356	1	0	0	0	0	0	0	0	1	11662	1136	40	1		1	PDGFRB	5	149497216	Silent	SNP	G	TCGA-M7-A724-01A-12D-A32B-08	9331281	149497216	31418044	16	17830											
GRIA1	2890	broad.mit.edu	37	chr5	153144045	153144045	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggtggttcttcaccttaatCatcatctcctcatatacagc	9	15	5	12	0	6	0	4	0	2	0	7	0	6	0	2	2	2	1	2	2	3	5			TCGA-M7-A724-01A-12D-A32B-08	TCGA-M7-A724-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da45f3a1-439a-45b0-8e3d-9761899018a9	ef22c980-b6f4-4ffc-a877-20515c382c67	g.chr5:153144045C>A	ENST00000285900.5	+	12	2218	c.1875C>A	c.(1873-1875)atC>atA	p.I625I	GRIA1_ENST00000518142.1_Silent_p.I545I|GRIA1_ENST00000521843.2_Silent_p.I556I|GRIA1_ENST00000340592.5_Silent_p.I625I|GRIA1_ENST00000518783.1_Silent_p.I635I|GRIA1_ENST00000448073.4_Silent_p.I635I	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1	625					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|long-term memory (GO:0007616)|receptor internalization (GO:0031623)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|axonal spine (GO:0044308)|cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|dendrite membrane (GO:0032590)|dendritic spine (GO:0043197)|endocytic vesicle membrane (GO:0030666)|endoplasmic reticulum (GO:0005783)|neuron spine (GO:0044309)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|PDZ domain binding (GO:0030165)			NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Perampanel(DB08883)|Sevoflurane(DB01236)	TCACCTTAATCATCATCTCCT	0.542																																						ENST00000285900.5																			0				NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81						c.(1873-1875)atC>atA		glutamate receptor, ionotropic, AMPA 1	Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)						141	117	125					5																	153144045		2203	4300	6503	SO:0001819	synonymous_variant	0				synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding	g.chr5:153144045C>A		CCDS4322.1, CCDS47318.1, CCDS58986.1, CCDS58987.1, CCDS58988.1, CCDS58989.1	5q33	2012-08-29			ENSG00000155511	ENSG00000155511		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4571	protein-coding gene	gene with protein product		138248		GLUR1		1652753, 1319477	Standard	NM_000827		Approved	GluA1, GLURA	uc011dcy.2	P42261	OTTHUMG00000130148	ENST00000285900.5:c.1875C>A	5.37:g.153144045C>A						GRIA1_ENST00000521843.2_Silent_p.I556I|GRIA1_ENST00000448073.4_Silent_p.I635I|GRIA1_ENST00000518142.1_Silent_p.I545I|GRIA1_ENST00000518783.1_Silent_p.I635I|GRIA1_ENST00000340592.5_Silent_p.I625I	p.I625I	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		12	2218	+		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	625					B7Z2S0|B7Z2W8|B7Z3F6|B7Z9G9|D3DQI4|E7ESV8|Q2NKM6	Silent	SNP	ENST00000285900.5	37	c.1875C>A	CCDS4322.1																																																																																				0.542	GRIA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252456.3			24	40	1	0	1.10923e-09	1	1.15965e-09	24	40					A	153144045	C	A	153144045	2	1	356	1	0	0	0	0	0	0	0	1	6767	816	29	5		5	GRIA1	5	153144045	Silent	SNP	C	TCGA-M7-A724-01A-12D-A32B-08	3646829	153144045	27771215	17	17831											
KIF13A	63971	broad.mit.edu	37	chr6	17826029	17826029	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cagggttttcatgataacttCcatctgtgcaaattcatagt	11	15	7	8	0	3	1	2	1	1	0	4	1	4	1	1	1	2	2	1	1	3	6			TCGA-M7-A724-01A-12D-A32B-08	TCGA-M7-A724-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da45f3a1-439a-45b0-8e3d-9761899018a9	ef22c980-b6f4-4ffc-a877-20515c382c67	g.chr6:17826029C>A	ENST00000259711.6	-	16	1861	c.1756G>T	c.(1756-1758)Gaa>Taa	p.E586*	KIF13A_ENST00000378843.2_Nonsense_Mutation_p.E586*|KIF13A_ENST00000378816.5_Nonsense_Mutation_p.E586*|KIF13A_ENST00000378814.5_Nonsense_Mutation_p.E586*|KIF13A_ENST00000378826.2_Nonsense_Mutation_p.E586*	NM_022113.5	NP_071396.4	Q9H1H9	KI13A_HUMAN	kinesin family member 13A	586					ATP catabolic process (GO:0006200)|cargo loading into vesicle (GO:0035459)|cytokinesis (GO:0000910)|endosome to lysosome transport (GO:0008333)|Golgi to plasma membrane protein transport (GO:0043001)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|plus-end-directed vesicle transport along microtubule (GO:0072383)	centrosome (GO:0005813)|endosome membrane (GO:0010008)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|midbody (GO:0030496)|trans-Golgi network membrane (GO:0032588)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	64	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	all cancers(50;0.0865)|Epithelial(50;0.0974)			ATGATAACTTCCATCTGTGCA	0.473																																						ENST00000378814.5																			0				breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	64						c.(1756-1758)Gaa>Taa		kinesin family member 13A							105	105	105					6																	17826029		1931	4135	6066	SO:0001587	stop_gained	63971				cargo loading into vesicle|cell cycle|cytokinesis|endosome to lysosome transport|Golgi to plasma membrane protein transport|melanosome organization|plus-end-directed vesicle transport along microtubule	centrosome|endosome membrane|microtubule|midbody|trans-Golgi network membrane	ATP binding|microtubule motor activity|protein binding	g.chr6:17826029C>A	AJ291578	CCDS47380.1, CCDS47381.1, CCDS54967.1, CCDS54968.1, CCDS58998.1	6p23	2008-10-21			ENSG00000137177	ENSG00000137177		"Kinesins"	14566	protein-coding gene	gene with protein product		605433				11106728	Standard	NM_022113		Approved	bA500C11.2	uc003ncg.4	Q9H1H9	OTTHUMG00000014313	ENST00000259711.6:c.1756G>T	6.37:g.17826029C>A	ENSP00000259711:p.Glu586*					KIF13A_ENST00000378843.2_Nonsense_Mutation_p.E586*|KIF13A_ENST00000378826.2_Nonsense_Mutation_p.E586*|KIF13A_ENST00000259711.6_Nonsense_Mutation_p.E586*|KIF13A_ENST00000378816.5_Nonsense_Mutation_p.E586*	p.E586*	NM_001105568.2	NP_001099038.1	Q9H1H9	KI13A_HUMAN	all cancers(50;0.0865)|Epithelial(50;0.0974)		16	1755	-	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	586					A0JP21|A0JP22|F2Z382|Q5THQ2|Q5THQ3|Q9H193|Q9H194|Q9H1H8	Nonsense_Mutation	SNP	ENST00000259711.6	37	c.1756G>T	CCDS47381.1	.	.	.	.	.	.	.	.	.	.	C	34	5.358434	0.95854	.	.	ENSG00000137177	ENST00000378814;ENST00000259711;ENST00000378826;ENST00000378843;ENST00000378816	.	.	.	6.08	4.32	0.51571	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	12.814	0.57654	0.0:0.8688:0.0:0.1312	.	.	.	.	X	586	.	ENSP00000259711:E586X	E	-	1	0	KIF13A	17934008	1.000000	0.71417	0.946000	0.38457	0.219000	0.24729	7.432000	0.80349	0.922000	0.37019	-0.136000	0.14681	GAA		0.473	KIF13A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000039954.4			31	33	1	0	7.01153e-11	1	7.6793e-11	31	33					A	17826029	C	A	17826029	4	1	356	1	0	0	0	0	0	1	0	0	8274	864	30	5	3782	5	KIF13A	6	17826029	Nonsense_Mutation	SNP	C	TCGA-M7-A724-01A-12D-A32B-08		17826029	153289038	18	17832											
BAT2	7916	broad.mit.edu	37	chr6	31599394	31599394	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccccaaacccccaaagccaGacccactcaagataaccaag	16	2	4	19	0	1	2	1	0	0	2	1	2	1	2	7	0	3	0	7	0	5	1			TCGA-M7-A724-01A-12D-A32B-08	TCGA-M7-A724-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da45f3a1-439a-45b0-8e3d-9761899018a9	ef22c980-b6f4-4ffc-a877-20515c382c67	g.chr6:31599394G>T	ENST00000376033.2	+	16	3178	c.2944G>T	c.(2944-2946)Gac>Tac	p.D982Y	PRRC2A_ENST00000376007.4_Missense_Mutation_p.D982Y	NM_004638.3	NP_004629.3	P48634	PRC2A_HUMAN	proline-rich coiled-coil 2A	982	4 X 57 AA type A repeats.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	70						CCCAAAGCCAGACCCACTCAA	0.567																																						ENST00000376033.2																			0				breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	70						c.(2944-2946)Gac>Tac		proline-rich coiled-coil 2A							16	20	19					6																	31599394		1500	2703	4203	SO:0001583	missense	7916					cytoplasm|nucleus	protein binding	g.chr6:31599394G>T	M31293	CCDS4708.1	6p21.3	2010-12-09	2010-12-09	2010-12-09	ENSG00000204469	ENSG00000204469			13918	protein-coding gene	gene with protein product		142580	"HLA-B associated transcript 2"	BAT2		2156268, 8499947	Standard	NM_080686		Approved	G2, D6S51E	uc003nvc.4	P48634	OTTHUMG00000031168	ENST00000376033.2:c.2944G>T	6.37:g.31599394G>T	ENSP00000365201:p.Asp982Tyr					PRRC2A_ENST00000376007.4_Missense_Mutation_p.D982Y	p.D982Y	NM_004638.3	NP_004629.3	P48634	PRC2A_HUMAN			16	3178	+			982			4 X 57 AA type A repeats.		B0UX77|B0UZE9|B0UZL3|O95875|Q05BK4|Q4LE37|Q5SQ29|Q5SQ30|Q5ST84|Q5STX6|Q5STX7|Q68DW9|Q6P9P7|Q6PIN1|Q8MGQ9|Q96QC6	Missense_Mutation	SNP	ENST00000376033.2	37	c.2944G>T	CCDS4708.1	.	.	.	.	.	.	.	.	.	.	G	4.997	0.185060	0.09495	.	.	ENSG00000204469	ENST00000424184;ENST00000435052;ENST00000376007;ENST00000376033;ENST00000376010	T;T	0.02103	4.45;4.45	5.2	5.2	0.72013	.	0.104953	0.42420	D	0.000710	T	0.01156	0.0038	N	0.14661	0.345	0.46458	D	0.999054	P	0.38922	0.651	B	0.37833	0.259	T	0.66933	-0.5798	10	0.87932	D	0	-4.4076	17.6776	0.88235	0.0:0.0:1.0:0.0	.	982	P48634	PRC2A_HUMAN	Y	982;971;982;982;207	ENSP00000365175:D982Y;ENSP00000365201:D982Y	ENSP00000365175:D982Y	D	+	1	0	PRRC2A	31707373	1.000000	0.71417	0.998000	0.56505	0.452000	0.32318	3.428000	0.52792	2.722000	0.93159	0.655000	0.94253	GAC		0.567	PRRC2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259319.1	NM_080686		10	10	1	0	7.48243e-07	1	7.6487e-07	10	10					T	31599394	G	T	31599394	3	4	356	1	0	0	0	0	1	0	0	0	1319	942	33	5	3002	5	BAT2	6	31599394	Missense_Mutation	SNP	G	TCGA-M7-A724-01A-12D-A32B-08	13773365	31599394	139515673	19	17833											
MED23	9439	broad.mit.edu	37	chr6	131915293	131915293	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ggtgtcatctggaacccaagGattttcctctcgtgcattca	8	13	9	11	1	4	0	2	0	2	0	6	2	5	2	2	3	2	1	2	3	2	3			TCGA-M7-A724-01A-12D-A32B-08	TCGA-M7-A724-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da45f3a1-439a-45b0-8e3d-9761899018a9	ef22c980-b6f4-4ffc-a877-20515c382c67	g.chr6:131915293G>A	ENST00000368068.3	-	23	3357	c.3178C>T	c.(3178-3180)Cct>Tct	p.P1060S	MED23_ENST00000354577.4_Missense_Mutation_p.P1066S|MED23_ENST00000368060.3_Missense_Mutation_p.P1060S|MED23_ENST00000479213.1_5'UTR|MED23_ENST00000403834.3_Missense_Mutation_p.P1066S|MED23_ENST00000368058.1_Missense_Mutation_p.P1066S|MED23_ENST00000545957.1_Missense_Mutation_p.P701S	NM_004830.3	NP_004821.2	Q9ULK4	MED23_HUMAN	mediator complex subunit 23	1060					gene expression (GO:0010467)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	transcription coactivator activity (GO:0003713)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(12)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	44	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0115)|OV - Ovarian serous cystadenocarcinoma(155;0.0608)		GGAACCCAAGGATTTTCCTCT	0.428																																						ENST00000403834.3																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(12)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	44						c.(3196-3198)Cct>Tct		mediator complex subunit 23							118	104	109					6																	131915293		2203	4300	6503	SO:0001583	missense	9439				regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	transcription factor complex	protein binding|transcription coactivator activity	g.chr6:131915293G>A	AF104255	CCDS5146.1, CCDS5147.1, CCDS59039.1	6q22.33-q24.1	2008-02-05	2007-08-08	2007-07-30	ENSG00000112282	ENSG00000112282			2372	protein-coding gene	gene with protein product		605042	"cofactor required for Sp1 transcriptional activation, subunit 3, 130kDa"	CRSP3		9989412	Standard	NM_004830		Approved	CRSP130, DRIP130, Sur2	uc003qcs.2	Q9ULK4	OTTHUMG00000015565	ENST00000368068.3:c.3178C>T	6.37:g.131915293G>A	ENSP00000357047:p.Pro1060Ser					MED23_ENST00000368060.3_Missense_Mutation_p.P1060S|MED23_ENST00000545957.1_Missense_Mutation_p.P701S|MED23_ENST00000479213.1_5'UTR|MED23_ENST00000354577.4_Missense_Mutation_p.P1066S|MED23_ENST00000368058.1_Missense_Mutation_p.P1066S|MED23_ENST00000368068.3_Missense_Mutation_p.P1060S	p.P1066S			Q9ULK4	MED23_HUMAN		GBM - Glioblastoma multiforme(226;0.0115)|OV - Ovarian serous cystadenocarcinoma(155;0.0608)	23	3369	-	Breast(56;0.0753)		1060					B9TX55|O95403|Q5JWT3|Q5JWT4|Q6P9H6|Q9H0J2|Q9NTT9|Q9NTU0|Q9Y5P7|Q9Y667	Missense_Mutation	SNP	ENST00000368068.3	37	c.3196C>T	CCDS5147.1	.	.	.	.	.	.	.	.	.	.	G	8.474	0.858130	0.17178	.	.	ENSG00000112282	ENST00000354577;ENST00000368068;ENST00000403834;ENST00000368060;ENST00000368058;ENST00000545957	T;T;T;T;T;T	0.76060	-0.99;-0.99;-0.99;-0.99;-0.99;-0.99	6.17	6.17	0.99709	.	0.096928	0.64402	D	0.000001	T	0.36193	0.0958	N	0.02802	-0.49	0.80722	D	1	B;B;B	0.06786	0.001;0.001;0.001	B;B;B	0.13407	0.009;0.004;0.002	T	0.51616	-0.8683	10	0.07175	T	0.84	-20.443	20.8794	0.99867	0.0:0.0:1.0:0.0	.	701;1060;1066	B4E3G4;Q9ULK4;Q9ULK4-3	.;MED23_HUMAN;.	S	1066;1060;1066;1060;1066;701	ENSP00000346588:P1066S;ENSP00000357047:P1060S;ENSP00000384536:P1066S;ENSP00000357039:P1060S;ENSP00000357037:P1066S;ENSP00000439977:P701S	ENSP00000346588:P1066S	P	-	1	0	MED23	131956986	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.136000	0.71703	2.941000	0.99782	0.655000	0.94253	CCT		0.428	MED23-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000042215.1			27	33	0	0	0	1	0	27	33					A	131915293	G	A	131915293	3	1	356	1	0	0	0	0	1	0	0	0	9441	1174	41	3	963	3	MED23	6	131915293	Missense_Mutation	SNP	G	TCGA-M7-A724-01A-12D-A32B-08	100315899	131915293	39199774	20	17834											
ZMIZ2	83637	broad.mit.edu	37	chr7	44806203	44806203	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tggccttcagtcctgccacaGgcgtgatggggccccccagc	5	7	13	16	1	1	1	1	1	0	0	2	1	2	1	6	4	2	0	6	4	0	1			TCGA-M7-A724-01A-12D-A32B-08	TCGA-M7-A724-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da45f3a1-439a-45b0-8e3d-9761899018a9	ef22c980-b6f4-4ffc-a877-20515c382c67	g.chr7:44806203G>A	ENST00000309315.4	+	18	2719	c.2596G>A	c.(2596-2598)Ggc>Agc	p.G866S	ZMIZ2_ENST00000463931.1_3'UTR|ZMIZ2_ENST00000441627.1_Missense_Mutation_p.G866S|ZMIZ2_ENST00000433667.1_Missense_Mutation_p.G834S|ZMIZ2_ENST00000265346.7_Missense_Mutation_p.G840S|ZMIZ2_ENST00000413916.1_Missense_Mutation_p.G808S	NM_031449.3	NP_113637.3	Q8NF64	ZMIZ2_HUMAN	zinc finger, MIZ-type containing 2	866	Pro-rich.				positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	mitochondrion (GO:0005739)|nuclear replication fork (GO:0043596)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|zinc ion binding (GO:0008270)			breast(3)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						TCCTGCCACAGGCGTGATGGG	0.672																																					NSCLC(20;604 852 1948 16908 50522)	ENST00000309315.4																			0				breast(3)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						c.(2596-2598)Ggc>Agc		zinc finger, MIZ-type containing 2							32	37	35					7																	44806203		1864	4105	5969	SO:0001583	missense	83637				positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear replication fork	ligand-dependent nuclear receptor transcription coactivator activity|protein binding|zinc ion binding	g.chr7:44806203G>A	AK090415	CCDS43576.1, CCDS43577.1, CCDS75591.1	7p13	2009-11-06			ENSG00000122515	ENSG00000122515		"Zinc fingers, MIZ-type"	22229	protein-coding gene	gene with protein product		611196					Standard	XM_005249866		Approved	KIAA1886, hZIMP7, ZIMP7, DKFZp761I2123, NET27	uc003tlr.3	Q8NF64	OTTHUMG00000155817	ENST00000309315.4:c.2596G>A	7.37:g.44806203G>A	ENSP00000311778:p.Gly866Ser					ZMIZ2_ENST00000463931.1_3'UTR|ZMIZ2_ENST00000441627.1_Missense_Mutation_p.G866S|ZMIZ2_ENST00000433667.1_Missense_Mutation_p.G834S|ZMIZ2_ENST00000413916.1_Missense_Mutation_p.G808S|ZMIZ2_ENST00000265346.7_Missense_Mutation_p.G840S	p.G866S	NM_031449.3	NP_113637.3	Q8NF64	ZMIZ2_HUMAN			18	2719	+			866			Pro-rich.		A4D2K7|D3DVL1|O94790|Q0VGB4|Q659A8|Q6JKL5|Q8WTX8|Q96Q01|Q9BQH7	Missense_Mutation	SNP	ENST00000309315.4	37	c.2596G>A	CCDS43576.1	.	.	.	.	.	.	.	.	.	.	G	12.46	1.945834	0.34377	.	.	ENSG00000122515	ENST00000413916;ENST00000309315;ENST00000441627;ENST00000433667;ENST00000265346;ENST00000414051	T;T;T;T;T	0.29917	1.55;1.56;1.56;1.56;1.55	5.19	2.35	0.29111	.	0.211713	0.32416	N	0.006139	T	0.22282	0.0537	L	0.46157	1.445	0.35007	D	0.756486	B;B;B;B	0.09022	0.002;0.002;0.001;0.002	B;B;B;B	0.20767	0.007;0.031;0.014;0.019	T	0.20042	-1.0287	10	0.09338	T	0.73	-3.0465	8.9443	0.35749	0.3073:0.0:0.6927:0.0	.	489;840;866;808	B3KR25;Q8NF64-2;Q8NF64;Q8NF64-3	.;.;ZMIZ2_HUMAN;.	S	808;866;866;834;840;869	ENSP00000409648:G808S;ENSP00000311778:G866S;ENSP00000414723:G866S;ENSP00000396601:G834S;ENSP00000265346:G840S	ENSP00000265346:G840S	G	+	1	0	ZMIZ2	44772728	0.361000	0.24972	0.626000	0.29213	0.982000	0.71751	0.654000	0.24918	0.766000	0.33244	0.563000	0.77884	GGC		0.672	ZMIZ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341790.1	NM_031449		34	32	0	0	0	1	0	34	32					A	44806203	G	A	44806203	3	1	356	1	0	0	0	0	1	0	0	0	17694	1000	35	3	2662	3	ZMIZ2	7	44806203	Missense_Mutation	SNP	G	TCGA-M7-A724-01A-12D-A32B-08		44806203	114332460	21	17835											
ZNF250	58500	broad.mit.edu	37	chr8	146108153	146108153	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggtgttttccccagaatcaCtgtttgctctgaaattaatg	9	15	9	8	0	2	2	1	1	1	1	3	2	3	2	2	1	1	3	2	1	3	4			TCGA-M7-A724-01A-12D-A32B-08	TCGA-M7-A724-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da45f3a1-439a-45b0-8e3d-9761899018a9	ef22c980-b6f4-4ffc-a877-20515c382c67	g.chr8:146108153C>A	ENST00000292579.7	-	6	546	c.430G>T	c.(430-432)Gtg>Ttg	p.V144L	ZNF250_ENST00000543949.1_Intron|ZNF250_ENST00000342660.6_Intron|ZNF250_ENST00000417550.2_Missense_Mutation_p.V139L	NM_001109689.3|NM_021061.4	NP_001103159.1|NP_066405.1	P15622	ZN250_HUMAN	zinc finger protein 250	144					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(4)|kidney(2)|lung(8)|skin(1)	15	all_cancers(97;8.72e-12)|all_epithelial(106;1.07e-10)|Lung NSC(106;7.18e-05)|all_lung(105;0.00021)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Epithelial(56;2.53e-38)|OV - Ovarian serous cystadenocarcinoma(54;4.07e-38)|all cancers(56;2.27e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;0.0654)		CCCAGAATCACTGTTTGCTCT	0.393																																					NSCLC(16;520 556 24096 40084 43446)	ENST00000292579.7																			0				endometrium(4)|kidney(2)|lung(8)|skin(1)	15						c.(430-432)Gtg>Ttg		zinc finger protein 250							172	179	177					8																	146108153		2203	4300	6503	SO:0001583	missense	58500				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr8:146108153C>A	AK095705	CCDS34972.1, CCDS55282.1	8q24.3	2013-01-08	2004-11-08			ENSG00000196150		"Zinc fingers, C2H2-type", "-"	13044	protein-coding gene	gene with protein product			"zinc finger protein 647"	ZNF647		12477932	Standard	NM_021061		Approved	MGC9718, ZFP647	uc003zer.4	P15622		ENST00000292579.7:c.430G>T	8.37:g.146108153C>A	ENSP00000292579:p.Val144Leu					ZNF250_ENST00000543949.1_Intron|ZNF250_ENST00000342660.6_Intron|ZNF250_ENST00000417550.2_Missense_Mutation_p.V139L	p.V144L	NM_001109689.3|NM_021061.4	NP_001103159.1|NP_066405.1	P15622	ZN250_HUMAN	Epithelial(56;2.53e-38)|OV - Ovarian serous cystadenocarcinoma(54;4.07e-38)|all cancers(56;2.27e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;0.0654)	6	546	-	all_cancers(97;8.72e-12)|all_epithelial(106;1.07e-10)|Lung NSC(106;7.18e-05)|all_lung(105;0.00021)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		144					D3DWP1|Q59HE9|Q8N942|Q96AH9	Missense_Mutation	SNP	ENST00000292579.7	37	c.430G>T	CCDS34972.1	.	.	.	.	.	.	.	.	.	.	C	13.32	2.201582	0.38905	.	.	ENSG00000196150	ENST00000292579;ENST00000417550;ENST00000394912;ENST00000533221;ENST00000533622;ENST00000525694	T;T;T;T	0.06933	3.26;3.24;5.7;5.79	3.61	-7.23	0.01480	.	2.718490	0.01204	N	0.007645	T	0.07188	0.0182	L	0.49126	1.545	0.09310	N	1	B;B	0.13594	0.001;0.008	B;B	0.06405	0.001;0.002	T	0.30327	-0.9982	10	0.23302	T	0.38	-0.1204	4.3747	0.11265	0.6307:0.0869:0.0885:0.1939	.	139;144	D3DWP1;P15622	.;ZN250_HUMAN	L	144;139;139;118;139;139	ENSP00000292579:V144L;ENSP00000393442:V139L;ENSP00000433387:V139L;ENSP00000432450:V139L	ENSP00000292579:V144L	V	-	1	0	ZNF250	146078957	0.000000	0.05858	0.000000	0.03702	0.687000	0.40016	-0.646000	0.05403	-1.307000	0.02321	-0.678000	0.03780	GTG		0.393	ZNF250-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382968.1	NM_021061		74	223	1	0	6.30617e-38	1	7.25209e-38	74	223					A	146108153	C	A	146108153	3	1	356	1	0	0	0	0	1	0	0	0	17792	565	20	5	1256	5	ZNF250	8	146108153	Missense_Mutation	SNP	C	TCGA-M7-A724-01A-12D-A32B-08		146108153	255869	22	17836											
CCDC107	203260	broad.mit.edu	37	chr9	35660414	35660414	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acaggggaaagatgaaactgCggttctccacgaggaggcaa	14	5	14	8	2	1	2	0	1	1	1	2	5	1	4	1	5	2	2	1	5	3	1	rs201836449		TCGA-M7-A724-01A-12D-A32B-08	TCGA-M7-A724-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da45f3a1-439a-45b0-8e3d-9761899018a9	ef22c980-b6f4-4ffc-a877-20515c382c67	g.chr9:35660414C>T	ENST00000426546.2	+	3	341	c.275C>T	c.(274-276)gCg>gTg	p.A92V	ARHGEF39_ENST00000378395.2_3'UTR|CCDC107_ENST00000421582.2_Missense_Mutation_p.A92V|CCDC107_ENST00000378406.1_Missense_Mutation_p.A92V|CCDC107_ENST00000378407.3_Missense_Mutation_p.A92V|CCDC107_ENST00000378409.3_Missense_Mutation_p.A92V|ARHGEF39_ENST00000490970.1_5'Flank|RMRP_ENST00000602361.1_lincRNA|ARHGEF39_ENST00000378387.3_3'UTR|CCDC107_ENST00000327351.2_Missense_Mutation_p.A92V|ARHGEF39_ENST00000343259.3_3'UTR	NM_001195200.1|NM_001195201.1|NM_001195217.1|NM_174923.2	NP_001182129.1|NP_001182130.1|NP_001182146.1|NP_777583.2	Q8WV48	CC107_HUMAN	coiled-coil domain containing 107	92						integral component of membrane (GO:0016021)				endometrium(1)|lung(3)|skin(1)	5	all_epithelial(49;0.217)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			GATGAAACTGCGGTTCTCCAC	0.547																																						ENST00000421582.2																			0				endometrium(1)|lung(3)|skin(1)	5						c.(274-276)gCg>gTg		coiled-coil domain containing 107							81	83	83					9																	35660414		2203	4300	6503	SO:0001583	missense	203260					integral to membrane		g.chr9:35660414C>T	AK075523	CCDS6583.1, CCDS56573.1, CCDS56574.1, CCDS56575.1	9q13.3	2008-02-05			ENSG00000159884	ENSG00000159884			28465	protein-coding gene	gene with protein product						12477932	Standard	NM_174923		Approved	MGC31967	uc011lox.2	Q8WV48	OTTHUMG00000019868	ENST00000426546.2:c.275C>T	9.37:g.35660414C>T	ENSP00000414964:p.Ala92Val					ARHGEF39_ENST00000343259.3_3'UTR|ARHGEF39_ENST00000378395.2_3'UTR|CCDC107_ENST00000426546.2_Missense_Mutation_p.A92V|CCDC107_ENST00000378406.1_Missense_Mutation_p.A92V|CCDC107_ENST00000327351.2_Missense_Mutation_p.A92V|CCDC107_ENST00000378407.3_Missense_Mutation_p.A92V|ARHGEF39_ENST00000378387.3_3'UTR|CCDC107_ENST00000378409.3_Missense_Mutation_p.A92V	p.A92V			Q8WV48	CC107_HUMAN	Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)		3	338	+	all_epithelial(49;0.217)		92					A6XND6|Q5T4R5|Q5T4R8|Q5T4R9|Q86VB6|Q8N2E4	Missense_Mutation	SNP	ENST00000426546.2	37	c.275C>T	CCDS6583.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	C	10.51	1.371778	0.24857	.	.	ENSG00000159884	ENST00000378407;ENST00000378406;ENST00000426546;ENST00000327351;ENST00000421582;ENST00000378409	T;T;T;T;T	0.34472	1.53;1.53;1.76;1.53;1.36	4.43	4.43	0.53597	.	0.690035	0.13703	N	0.368658	T	0.37544	0.1007	L	0.36672	1.1	0.51233	D	0.999913	P;D;P;P	0.56287	0.918;0.975;0.918;0.918	B;P;B;B	0.49085	0.361;0.6;0.361;0.255	T	0.08289	-1.0729	10	0.49607	T	0.09	-0.5735	12.8581	0.57897	0.0:1.0:0.0:0.0	.	92;92;92;92	F8W8S5;Q8WV48;Q8WV48-4;Q8WV48-2	.;CC107_HUMAN;.;.	V	92	ENSP00000367662:A92V;ENSP00000367661:A92V;ENSP00000414964:A92V;ENSP00000330327:A92V;ENSP00000367665:A92V	ENSP00000330327:A92V	A	+	2	0	CCDC107	35650414	0.088000	0.21588	0.036000	0.18154	0.052000	0.14988	3.383000	0.52471	2.761000	0.94854	0.655000	0.94253	GCG		0.547	CCDC107-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000052325.1	NM_174923		21	35	0	0	0	1	0	21	35					T	35660414	C	T	35660414	3	4	356	1	0	0	0	0	1	0	0	0	2742	768	27	1	285	1	CCDC107	9	35660414	Missense_Mutation	SNP	C	TCGA-M7-A724-01A-12D-A32B-08		35660414	105553017	23	17837											
HINT2	84681	broad.mit.edu	37	chr9	35813705	35813705	+	Frame_Shift_Del	DEL	G	G	-																															ggatccgggagaagatggttGgggctgctcccccaggagtt																										TCGA-M7-A724-01A-12D-A32B-08	TCGA-M7-A724-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da45f3a1-439a-45b0-8e3d-9761899018a9	ef22c980-b6f4-4ffc-a877-20515c382c67	g.chr9:35813705delG	ENST00000259667.5	-	2	199	c.158delC	c.(157-159)ccafs	p.P53fs	SPAG8_ENST00000396638.2_5'Flank|HINT2_ENST00000474908.1_5'UTR|SPAG8_ENST00000479751.1_5'Flank|SPAG8_ENST00000340291.2_5'Flank|SPAG8_ENST00000484764.1_5'Flank|TMEM8B_ENST00000377996.1_5'Flank|AL133410.1_ENST00000582432.1_RNA	NM_032593.2	NP_115982.1	Q9BX68	HINT2_HUMAN	histidine triad nucleotide binding protein 2	53					apoptotic process (GO:0006915)|steroid biosynthetic process (GO:0006694)	mitochondrion (GO:0005739)	hydrolase activity (GO:0016787)|nucleotide binding (GO:0000166)			NS(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	7	all_epithelial(49;0.161)		LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194)			GAAGATGGTTGGGGCTGCTCC	0.572											OREG0019179	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									GBM(185;1694 2122 5473 25431 37228)	ENST00000259667.5																			0				NS(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	7						c.(157-159)cafs		histidine triad nucleotide binding protein 2							53	48	49					9																	35813705		2203	4300	6503	SO:0001589	frameshift_variant	84681				apoptosis|steroid biosynthetic process	mitochondrion	hydrolase activity	g.chr9:35813705delG	AY033094	CCDS6594.1	9p11.2	2005-12-20			ENSG00000137133	ENSG00000137133			18344	protein-coding gene	gene with protein product		609997					Standard	NM_032593		Approved		uc003zyh.3	Q9BX68	OTTHUMG00000019886	ENST00000259667.5:c.158delC	9.37:g.35813705delG	ENSP00000259667:p.Pro53fs		OREG0019179	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	858	HINT2_ENST00000474908.1_5'UTR	p.P53fs	NM_032593.2	NP_115982.1	Q9BX68	HINT2_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194)		2	199	-	all_epithelial(49;0.161)		53					Q5TCW3	Frame_Shift_Del	DEL	ENST00000259667.5	37	c.158delC	CCDS6594.1																																																																																				0.572	HINT2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052390.1	NM_032593		13	22						13	22	---	---	---	---	-	35813705	G	-	35813705	7	5	356	1	0	1	0	1	0	0	0	0	7112	1348	47	0	349	0	HINT2	9	35813705	Frame_Shift_Del	DEL	G	TCGA-M7-A724-01A-12D-A32B-08	153291	35813705	105399726	24	17838											
TLE4	7091	broad.mit.edu	37	chr9	82187726	82187727	+	Frame_Shift_Ins	INS	-	-	ATGT																															tgattcgcgacctgagcaagINSatgtacccgcagaccagaca																										TCGA-M7-A724-01A-12D-A32B-08	TCGA-M7-A724-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da45f3a1-439a-45b0-8e3d-9761899018a9	ef22c980-b6f4-4ffc-a877-20515c382c67	g.chr9:82187726_82187727insATGT	ENST00000376552.2	+	1	1039_1040	c.21_22insATGT	c.(22-24)atgfs	p.-9fs	TLE4_ENST00000265284.6_Frame_Shift_Ins_p.-9fs|TLE4_ENST00000376520.4_Frame_Shift_Ins_p.-9fs|TLE4_ENST00000376534.4_De_novo_Start_OutOfFrame|TLE4_ENST00000376537.4_Frame_Shift_Ins_p.-9fs|TLE4_ENST00000376544.3_Frame_Shift_Ins_p.-9fs	NM_007005.3	NP_008936.2	Q04727	TLE4_HUMAN	transducin-like enhancer of split 4						negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|Wnt signaling pathway (GO:0016055)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|transcription corepressor activity (GO:0003714)			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	39						ACCTGAGCAAGATGTACCCGCA	0.683																																						ENST00000376534.4																			0				breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	39								transducin-like enhancer of split 4 (E(sp1) homolog, Drosophila)																																				SO:0001589	frameshift_variant	7091							g.chr9:82187726_82187727insATGT	M99439	CCDS43837.1, CCDS65069.1, CCDS65070.1, CCDS75851.1	9q21.32	2014-03-07	2014-03-07		ENSG00000106829	ENSG00000106829		"WD repeat domain containing"	11840	protein-coding gene	gene with protein product		605132	"transducin-like enhancer of split 4, homolog of Drosophila E(sp1)", "transducin-like enhancer of split 4 (E(sp1) homolog, Drosophila)"			8365415	Standard	XM_005252167		Approved	E(spI), ESG, GRG4	uc004alc.3	Q04727	OTTHUMG00000020072	ENST00000376552.2:c.22_25dupATGT	9.37:g.82187727_82187730dupATGT	ENSP00000365735:p.Tyr9fs					TLE4_ENST00000376520.4_Frame_Shift_Ins_p.NV7fs|TLE4_ENST00000376544.3_Frame_Shift_Ins_p.NV7fs|TLE4_ENST00000376552.2_Frame_Shift_Ins_p.NV7fs|TLE4_ENST00000265284.6_Frame_Shift_Ins_p.NV7fs|TLE4_ENST00000376537.4_Frame_Shift_Ins_p.NV7fs				O60756	BCE1_HUMAN			0	187_188	+								F8W6T6|Q3ZCS1|Q5T1Y2|Q6PCB3|Q9BZ07|Q9BZ08|Q9BZ09|Q9NSL3|Q9ULF9	Translation_Start_Site	INS	ENST00000376552.2	37		CCDS43837.1																																																																																				0.683	TLE4-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052792.4	XM_212237		9	28						9	28	---	---	---	---	ATGT	82187727	-	ATGT	82187726	7	5	356	1	0	1	1	0	0	0	0	0	15938	933	33	0	23	0	TLE4	9	82187726	Frame_Shift_Ins	INS	-	TCGA-M7-A724-01A-12D-A32B-08	46374021	82187726	59025705	25	17839											
ANKRD30A	91074	broad.mit.edu	37	chr10	37430947	37430947	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	acatctgagaaatttacgtgGccagcaaaaggaagacctag	16	7	10	8	1	1	2	0	1	1	2	1	4	1	3	2	2	2	1	2	2	6	3			TCGA-M7-A724-01A-12D-A32B-08	TCGA-M7-A724-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da45f3a1-439a-45b0-8e3d-9761899018a9	ef22c980-b6f4-4ffc-a877-20515c382c67	g.chr10:37430947G>A	ENST00000602533.1	+	7	1053	c.954G>A	c.(952-954)tgG>tgA	p.W318*	ANKRD30A_ENST00000361713.1_Nonsense_Mutation_p.W318*|ANKRD30A_ENST00000374660.1_Nonsense_Mutation_p.W318*			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	374					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						AATTTACGTGGCCAGCAAAAG	0.423																																						ENST00000374660.1																			0				NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						c.(952-954)tgG>tgA		ankyrin repeat domain 30A							101	101	101					10																	37430947		1858	4093	5951	SO:0001587	stop_gained	91074					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr10:37430947G>A	AF269087	CCDS7193.1	10p11.21	2013-01-10			ENSG00000148513	ENSG00000148513		"Ankyrin repeat domain containing"	17234	protein-coding gene	gene with protein product	"breast cancer antigen NY-BR-1"	610856				11280766	Standard	NM_052997		Approved	NY-BR-1	uc001iza.1	Q9BXX3	OTTHUMG00000017968	ENST00000602533.1:c.954G>A	10.37:g.37430947G>A	ENSP00000473551:p.Trp318*					ANKRD30A_ENST00000602533.1_Nonsense_Mutation_p.W318*|ANKRD30A_ENST00000361713.1_Nonsense_Mutation_p.W318*	p.W318*			Q9BXX3	AN30A_HUMAN			7	1053	+			374					Q5W025	Nonsense_Mutation	SNP	ENST00000602533.1	37	c.954G>A		.	.	.	.	.	.	.	.	.	.	.	15.47	2.843402	0.51057	.	.	ENSG00000148513	ENST00000361713;ENST00000374660	.	.	.	0.0465	0.0465	0.14256	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.37606	T	0.19	.	.	.	.	.	.	.	.	X	318	.	ENSP00000354432:W318X	W	+	3	0	ANKRD30A	37470953	0.000000	0.05858	0.010000	0.14722	0.010000	0.07245	-1.318000	0.02705	0.132000	0.18615	0.134000	0.15878	TGG		0.423	ANKRD30A-001	KNOWN	NMD_exception|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000047588.2	NM_052997		21	80	0	0	0	1	0	21	80					A	37430947	G	A	37430947	4	1	356	1	0	0	0	0	0	1	0	0	658	1212	42	3	980	3	ANKRD30A	10	37430947	Nonsense_Mutation	SNP	G	TCGA-M7-A724-01A-12D-A32B-08		37430947	98103800	26	17840											
OR5D16	390144	broad.mit.edu	37	chr11	55607153	55607153	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aatccgaaaaataatcaataCaaaatattttcatattaaac	22	12	1	6	1	2	0	2	0	0	0	3	1	3	0	1	0	2	0	1	0	12	7			TCGA-M7-A724-01A-12D-A32B-08	TCGA-M7-A724-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da45f3a1-439a-45b0-8e3d-9761899018a9	ef22c980-b6f4-4ffc-a877-20515c382c67	g.chr11:55607153C>A	ENST00000378396.1	+	1	926	c.926C>A	c.(925-927)aCa>aAa	p.T309K		NM_001005496.1	NP_001005496.1	Q8NGK9	OR5DG_HUMAN	olfactory receptor, family 5, subfamily D, member 16	309						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(1)|endometrium(2)|large_intestine(4)|lung(26)|ovary(5)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	44		all_epithelial(135;0.208)				ATAATCAATACAAAATATTTT	0.328																																						ENST00000378396.1																			0				cervix(1)|endometrium(2)|large_intestine(4)|lung(26)|ovary(5)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	44						c.(925-927)aCa>aAa		olfactory receptor, family 5, subfamily D, member 16							19	22	21					11																	55607153		2189	4269	6458	SO:0001583	missense	390144				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55607153C>A	AB065783	CCDS31512.1	11q11	2012-08-09			ENSG00000205029	ENSG00000205029		"GPCR / Class A : Olfactory receptors"	15283	protein-coding gene	gene with protein product							Standard	NM_001005496		Approved		uc010rio.2	Q8NGK9	OTTHUMG00000154233	ENST00000378396.1:c.926C>A	11.37:g.55607153C>A	ENSP00000367649:p.Thr309Lys						p.T309K	NM_001005496.1	NP_001005496.1	Q8NGK9	OR5DG_HUMAN			1	926	+		all_epithelial(135;0.208)	309					Q6IF65|Q96RB4	Missense_Mutation	SNP	ENST00000378396.1	37	c.926C>A	CCDS31512.1	.	.	.	.	.	.	.	.	.	.	.	5.093	0.202744	0.09652	.	.	ENSG00000205029	ENST00000378396	T	0.34472	1.36	3.52	-4.58	0.03410	.	.	.	.	.	T	0.08626	0.0214	N	0.02120	-0.675	0.09310	N	1	B	0.09022	0.002	B	0.12156	0.007	T	0.32134	-0.9918	9	0.02654	T	1	2.9606	2.0482	0.03565	0.148:0.179:0.1466:0.5264	.	309	Q8NGK9	OR5DG_HUMAN	K	309	ENSP00000367649:T309K	ENSP00000367649:T309K	T	+	2	0	OR5D16	55363729	0.000000	0.05858	0.000000	0.03702	0.037000	0.13140	-2.752000	0.00791	-0.492000	0.06687	0.530000	0.56133	ACA		0.328	OR5D16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334506.1	NM_001005496		10	9	1	0	9.70103e-10	1	1.03778e-09	10	9					A	55607153	C	A	55607153	3	1	356	1	0	0	0	0	1	0	0	0	11156	478	17	5	928	5	OR5D16	11	55607153	Missense_Mutation	SNP	C	TCGA-M7-A724-01A-12D-A32B-08		55607153	79399363	27	17841											
CLDN10	9071	broad.mit.edu	37	chr13	96212468	96212468	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atatttgcgctctttggaatGaagtgtaccaaagtcggagg	11	12	12	6	2	1	1	0	1	1	0	2	3	1	3	1	3	2	2	1	3	5	4			TCGA-M7-A724-01A-12D-A32B-08	TCGA-M7-A724-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da45f3a1-439a-45b0-8e3d-9761899018a9	ef22c980-b6f4-4ffc-a877-20515c382c67	g.chr13:96212468G>T	ENST00000299339.2	+	2	332	c.303G>T	c.(301-303)atG>atT	p.M101I	CLDN10_ENST00000376855.1_Missense_Mutation_p.M19I|CLDN10_ENST00000376873.3_Missense_Mutation_p.M99I	NM_006984.4	NP_008915.1	P78369	CLD10_HUMAN	claudin 10	101					calcium-independent cell-cell adhesion (GO:0016338)|cell adhesion (GO:0007155)|ion transport (GO:0006811)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	identical protein binding (GO:0042802)|structural molecule activity (GO:0005198)			endometrium(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|skin(1)	15	all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.18)			TCTTTGGAATGAAGTGTACCA	0.428																																						ENST00000376873.3																			0				endometrium(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|skin(1)	15						c.(295-297)atG>atT		claudin 10							141	126	131					13																	96212468		2203	4300	6503	SO:0001583	missense	9071				calcium-independent cell-cell adhesion	integral to membrane|tight junction	identical protein binding|structural molecule activity	g.chr13:96212468G>T	U89916	CCDS9475.1, CCDS9476.1	13q31-q34	2008-07-18			ENSG00000134873	ENSG00000134873		"Claudins"	2033	protein-coding gene	gene with protein product						18025272	Standard	NM_182848		Approved	OSP-L, CPETRL3	uc001vmh.2	P78369	OTTHUMG00000017217	ENST00000299339.2:c.303G>T	13.37:g.96212468G>T	ENSP00000299339:p.Met101Ile					CLDN10_ENST00000376855.1_Missense_Mutation_p.M19I|CLDN10_ENST00000299339.2_Missense_Mutation_p.M101I	p.M99I	NM_001160100.1|NM_182848.3	NP_001153572.1|NP_878268.1	P78369	CLD10_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.18)		2	527	+	all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163)		101					Q6IBF9|Q96N78	Missense_Mutation	SNP	ENST00000299339.2	37	c.297G>T	CCDS9476.1	.	.	.	.	.	.	.	.	.	.	G	32	5.110150	0.94292	.	.	ENSG00000134873	ENST00000376873;ENST00000299339;ENST00000376855	D;D;D	0.89270	-2.49;-2.49;-2.49	5.75	5.75	0.90469	.	0.000000	0.85682	D	0.000000	D	0.95526	0.8546	M	0.88775	2.98	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.94550	0.7753	10	0.40728	T	0.16	.	19.9662	0.97271	0.0:0.0:1.0:0.0	.	101;101;99	Q6IBF9;P78369;Q96N78	.;CLD10_HUMAN;.	I	99;101;19	ENSP00000366069:M99I;ENSP00000299339:M101I;ENSP00000366051:M19I	ENSP00000299339:M101I	M	+	3	0	CLDN10	95010469	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.559000	0.82265	2.701000	0.92244	0.650000	0.86243	ATG		0.428	CLDN10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045484.1	NM_006984		36	38	1	0	9.04072e-19	1	1.01432e-18	36	38					T	96212468	G	T	96212468	3	4	356	1	0	0	0	0	1	0	0	0	3472	1290	45	5	527	5	CLDN10	13	96212468	Missense_Mutation	SNP	G	TCGA-M7-A724-01A-12D-A32B-08		96212468	18957410	28	17842											
FERMT2	10979	broad.mit.edu	37	chr14	53331155	53331155	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttttagatagcggggagaCaccaaacattcaggagttat	13	12	10	6	1	1	2	1	0	0	2	1	4	1	3	1	3	2	1	1	3	4	6			TCGA-M7-A724-01A-12D-A32B-08	TCGA-M7-A724-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da45f3a1-439a-45b0-8e3d-9761899018a9	ef22c980-b6f4-4ffc-a877-20515c382c67	g.chr14:53331155C>T	ENST00000395631.2	-	12	1782	c.1566G>A	c.(1564-1566)gtG>gtA	p.V522V	FERMT2_ENST00000399304.3_Silent_p.V522V|FERMT2_ENST00000557255.1_5'Flank|FERMT2_ENST00000553373.1_Silent_p.V522V|FERMT2_ENST00000343279.4_Silent_p.V522V|FERMT2_ENST00000341590.3_Silent_p.V522V			Q96AC1	FERM2_HUMAN	fermitin family member 2	522	FERM.				cell junction assembly (GO:0034329)|cell-matrix adhesion (GO:0007160)|focal adhesion assembly (GO:0048041)|integrin activation (GO:0033622)|integrin-mediated signaling pathway (GO:0007229)|protein localization to membrane (GO:0072657)|regulation of cell shape (GO:0008360)|substrate adhesion-dependent cell spreading (GO:0034446)|transforming growth factor beta receptor signaling pathway (GO:0007179)|Wnt signaling pathway (GO:0016055)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|filamentous actin (GO:0031941)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|stress fiber (GO:0001725)	phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)		ERO1L/FERMT2(2)	NS(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	20	Breast(41;0.0342)					AGCGGGGAGACACCAAACATT	0.348																																						ENST00000395631.2																		ERO1L/FERMT2(2)	0				NS(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	20						c.(1564-1566)gtG>gtA		fermitin family member 2							134	128	130					14																	53331155		2203	4300	6503	SO:0001819	synonymous_variant	10979				actin cytoskeleton organization|cell adhesion|cell junction assembly|regulation of cell shape	cell cortex|cytosol|focal adhesion|stress fiber	binding	g.chr14:53331155C>T	Z24725	CCDS9713.1, CCDS45107.1, CCDS45108.1	14q22.1	2013-01-10	2010-06-24	2007-12-14	ENSG00000073712	ENSG00000073712		"Fermitins", "Pleckstrin homology (PH) domain containing"	15767	protein-coding gene	gene with protein product	"kindlin-2"	607746	"pleckstrin homology domain containing, family C (with FERM domain) member 1", "fermitin family homolog 2 (Drosophila)"	PLEKHC1		8175911, 12697302	Standard	NM_006832		Approved	mig-2, KIND2, UNC112B	uc001xac.3	Q96AC1	OTTHUMG00000140309	ENST00000395631.2:c.1566G>A	14.37:g.53331155C>T						FERMT2_ENST00000553373.1_Silent_p.V522V|FERMT2_ENST00000399304.3_Silent_p.V522V|FERMT2_ENST00000341590.3_Silent_p.V522V|FERMT2_ENST00000343279.4_Silent_p.V522V	p.V522V			Q96AC1	FERM2_HUMAN			12	1782	-	Breast(41;0.0342)		522			FERM.		B5TJY2|Q14840|Q86TY7	Silent	SNP	ENST00000395631.2	37	c.1566G>A	CCDS9713.1	.	.	.	.	.	.	.	.	.	.	C	9.177	1.022600	0.19433	.	.	ENSG00000073712	ENST00000553663	T	0.79653	-1.29	5.86	4.98	0.66077	.	0.000000	0.85682	D	0.000000	T	0.81302	0.4794	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.79364	-0.1834	6	.	.	.	.	8.6873	0.34245	0.2597:0.6712:0.0:0.0691	.	.	.	.	I	29	ENSP00000451134:V29I	.	V	-	1	0	FERMT2	52400905	0.767000	0.28508	1.000000	0.80357	0.987000	0.75469	-0.011000	0.12721	1.629000	0.50426	0.650000	0.86243	GTC		0.348	FERMT2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276907.2	NM_006832		48	52	0	0	0	1	0	48	52					T	53331155	C	T	53331155	2	4	356	1	0	0	0	0	0	0	0	1	5818	465	17	3		3	FERMT2	14	53331155	Silent	SNP	C	TCGA-M7-A724-01A-12D-A32B-08		53331155	54018385	29	17843											
NXN	64359	broad.mit.edu	37	chr17	704350	704350	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aggcaggttggtgtaatctcGcagggagtcagtcatgtcat	9	11	14	7	1	4	0	3	0	1	0	5	1	4	1	0	4	0	4	0	4	1	2			TCGA-M7-A724-01A-12D-A32B-08	TCGA-M7-A724-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da45f3a1-439a-45b0-8e3d-9761899018a9	ef22c980-b6f4-4ffc-a877-20515c382c67	g.chr17:704350G>A	ENST00000336868.3	-	8	1238	c.1147C>T	c.(1147-1149)Cga>Tga	p.R383*	NXN_ENST00000537628.2_Nonsense_Mutation_p.R134*|NXN_ENST00000575801.1_Nonsense_Mutation_p.R275*|NXN_ENST00000538650.1_Nonsense_Mutation_p.R74*	NM_022463.4	NP_071908.2	Q6DKJ4	NXN_HUMAN	nucleoredoxin	383					cardiovascular system development (GO:0072358)|cell differentiation (GO:0030154)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of Wnt signaling pathway (GO:0030178)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein-disulfide reductase activity (GO:0047134)|thioredoxin-disulfide reductase activity (GO:0004791)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)|ovary(2)|pancreas(1)|prostate(1)	13				UCEC - Uterine corpus endometrioid carcinoma (25;0.0237)		GTGTAATCTCGCAGGGAGTCA	0.582																																						ENST00000336868.3																			0				breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)|ovary(2)|pancreas(1)|prostate(1)	13						c.(1147-1149)Cga>Tga		nucleoredoxin							62	54	57					17																	704350		2203	4300	6503	SO:0001587	stop_gained	64359				cell differentiation|cell redox homeostasis|multicellular organismal development|Wnt receptor signaling pathway	cytosol|nucleus	protein-disulfide reductase activity	g.chr17:704350G>A		CCDS10998.1, CCDS56013.1	17p13	2007-08-10			ENSG00000167693	ENSG00000167693			18008	protein-coding gene	gene with protein product		612895					Standard	NM_022463		Approved	FLJ12614, NRX	uc002fsa.3	Q6DKJ4	OTTHUMG00000090307	ENST00000336868.3:c.1147C>T	17.37:g.704350G>A	ENSP00000337443:p.Arg383*					NXN_ENST00000575801.1_Nonsense_Mutation_p.R275*|NXN_ENST00000538650.1_Nonsense_Mutation_p.R74*|NXN_ENST00000537628.2_Nonsense_Mutation_p.R134*	p.R383*	NM_022463.4	NP_071908.2	Q6DKJ4	NXN_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.0237)	8	1238	-			383					B4DXQ0|D3DTH2|Q3SWW6|Q6P3U6|Q7L4C6|Q9H9Q1	Nonsense_Mutation	SNP	ENST00000336868.3	37	c.1147C>T	CCDS10998.1	.	.	.	.	.	.	.	.	.	.	G	36	5.645201	0.96704	.	.	ENSG00000167693	ENST00000336868;ENST00000538650;ENST00000537628	.	.	.	5.99	2.51	0.30379	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-3.2103	15.3857	0.74699	0.0:0.0:0.6209:0.3791	.	.	.	.	X	383;74;275	.	ENSP00000337443:R383X	R	-	1	2	NXN	651100	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.607000	0.67648	0.802000	0.34089	-0.182000	0.12963	CGA		0.582	NXN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206669.1			16	16	0	0	0	1	0	16	16					A	704350	G	A	704350	4	1	356	1	0	0	0	0	0	1	0	0	10787	1095	38	1	164	1	NXN	17	704350	Nonsense_Mutation	SNP	G	TCGA-M7-A724-01A-12D-A32B-08		704350	80490860	30	17844											
ASGR1	432	broad.mit.edu	37	chr17	7080598	7080598	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cagggagagcaggaggaggcGaggtccggagcagagacgct	11	2	20	8	3	0	2	0	0	0	2	1	8	1	5	1	6	2	3	1	6	0	0			TCGA-M7-A724-01A-12D-A32B-08	TCGA-M7-A724-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da45f3a1-439a-45b0-8e3d-9761899018a9	ef22c980-b6f4-4ffc-a877-20515c382c67	g.chr17:7080598G>A	ENST00000269299.3	-	3	517	c.118C>T	c.(118-120)Cgc>Tgc	p.R40C	ASGR1_ENST00000574388.1_Intron|ASGR1_ENST00000380920.4_5'UTR|ASGR1_ENST00000572879.1_5'UTR	NM_001197216.2|NM_001671.4	NP_001184145.1|NP_001662.1	P07306	ASGR1_HUMAN	asialoglycoprotein receptor 1	40					cellular response to extracellular stimulus (GO:0031668)|receptor-mediated endocytosis (GO:0006898)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	asialoglycoprotein receptor activity (GO:0004873)|carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|skin(1)|urinary_tract(1)	10						AGGAGGAGGCGAGGTCCGGAG	0.682											OREG0024128	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000269299.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|skin(1)|urinary_tract(1)	10						c.(118-120)Cgc>Tgc		asialoglycoprotein receptor 1							62	71	68					17																	7080598		2203	4300	6503	SO:0001583	missense	432				receptor-mediated endocytosis	integral to plasma membrane	asialoglycoprotein receptor activity|metal ion binding|sugar binding	g.chr17:7080598G>A		CCDS11089.1, CCDS56017.1	17p13-p11	2011-08-30			ENSG00000141505	ENSG00000141505		"C-type lectin domain containing"	742	protein-coding gene	gene with protein product		108360					Standard	NM_001671		Approved	CLEC4H1	uc002ges.4	P07306	OTTHUMG00000102159	ENST00000269299.3:c.118C>T	17.37:g.7080598G>A	ENSP00000269299:p.Arg40Cys		OREG0024128	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	639	ASGR1_ENST00000574388.1_Intron|ASGR1_ENST00000572879.1_5'UTR|ASGR1_ENST00000380920.4_5'UTR	p.R40C	NM_001197216.2|NM_001671.4	NP_001184145.1|NP_001662.1	P07306	ASGR1_HUMAN			3	517	-			40					I3L1X1	Missense_Mutation	SNP	ENST00000269299.3	37	c.118C>T	CCDS11089.1	.	.	.	.	.	.	.	.	.	.	G	15.20	2.763307	0.49574	.	.	ENSG00000141505	ENST00000269299	T	0.19394	2.15	4.92	-1.11	0.09840	Hepatic lectin, N-terminal (1);	0.486737	0.19342	N	0.116635	T	0.10380	0.0254	L	0.29908	0.895	0.20563	N	0.999886	B	0.06786	0.001	B	0.04013	0.001	T	0.17592	-1.0364	10	0.39692	T	0.17	.	0.7239	0.00945	0.3164:0.1533:0.3586:0.1718	.	40	P07306	ASGR1_HUMAN	C	40	ENSP00000269299:R40C	ENSP00000269299:R40C	R	-	1	0	ASGR1	7021322	0.622000	0.27085	0.001000	0.08648	0.936000	0.57629	0.378000	0.20569	-0.322000	0.08615	0.561000	0.74099	CGC		0.682	ASGR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000220004.3	NM_001671		40	40	0	0	0	1	0	40	40					A	7080598	G	A	7080598	3	1	356	1	0	0	0	0	1	0	0	0	1039	1058	37	2	785	2	ASGR1	17	7080598	Missense_Mutation	SNP	G	TCGA-M7-A724-01A-12D-A32B-08	6376248	7080598	74114612	31	17845											
IGFBP4	3487	broad.mit.edu	37	chr17	38610295	38610295	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ccccaactgcgaccgcaacgGcaacttccaccccaagcagg	11	3	8	19	3	0	0	0	0	0	0	1	1	1	0	6	2	5	3	6	2	4	1			TCGA-M7-A724-01A-12D-A32B-08	TCGA-M7-A724-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da45f3a1-439a-45b0-8e3d-9761899018a9	ef22c980-b6f4-4ffc-a877-20515c382c67	g.chr17:38610295G>A	ENST00000269593.4	+	3	898	c.623G>A	c.(622-624)gGc>gAc	p.G208D	IGFBP4_ENST00000542955.1_Missense_Mutation_p.G108D	NM_001552.2	NP_001543.2	P22692	IBP4_HUMAN	insulin-like growth factor binding protein 4	208	Thyroglobulin type-1. {ECO:0000255|PROSITE-ProRule:PRU00500}.				cell proliferation (GO:0008283)|cellular protein metabolic process (GO:0044267)|DNA metabolic process (GO:0006259)|inflammatory response (GO:0006954)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of MAPK cascade (GO:0043410)|regulation of cell growth (GO:0001558)|regulation of glucose metabolic process (GO:0010906)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)|type B pancreatic cell proliferation (GO:0044342)	extracellular region (GO:0005576)|extracellular space (GO:0005615)				NS(1)|endometrium(1)|kidney(1)|large_intestine(2)	5		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(5;5.91e-05)			GACCGCAACGGCAACTTCCAC	0.662																																					GBM(160;940 3581 26177)	ENST00000269593.4																			0				NS(1)|endometrium(1)|kidney(1)|large_intestine(2)	5						c.(622-624)gGc>gAc		insulin-like growth factor binding protein 4							123	116	118					17																	38610295		2203	4300	6503	SO:0001583	missense	3487				DNA metabolic process|signal transduction|skeletal system development			g.chr17:38610295G>A	M38177	CCDS11367.1	17q21.2	2014-09-16	2001-11-28		ENSG00000141753	ENSG00000141753			5473	protein-coding gene	gene with protein product	"IGF-binding protein 4"	146733	"insulin-like growth factor-binding protein 4"			1707125, 1704481	Standard	NM_001552		Approved	IBP4, BP-4, HT29-IGFBP, IGFBP-4	uc002hus.3	P22692	OTTHUMG00000133326	ENST00000269593.4:c.623G>A	17.37:g.38610295G>A	ENSP00000269593:p.Gly208Asp					IGFBP4_ENST00000542955.1_Missense_Mutation_p.G108D	p.G208D	NM_001552.2	NP_001543.2	P22692	IBP4_HUMAN	STAD - Stomach adenocarcinoma(5;5.91e-05)		3	898	+		Breast(137;0.000496)	208			Thyroglobulin type-1.		A0N9W2|B4E351|Q5U012|Q9UCL6	Missense_Mutation	SNP	ENST00000269593.4	37	c.623G>A	CCDS11367.1	.	.	.	.	.	.	.	.	.	.	G	32	5.110159	0.94292	.	.	ENSG00000141753	ENST00000542955;ENST00000269593	D;D	0.94758	-3.51;-3.51	5.91	5.91	0.95273	Thyroglobulin type-1 (5);	0.000000	0.85682	D	0.000000	D	0.97986	0.9337	M	0.92784	3.345	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	D	0.98602	1.0659	10	0.87932	D	0	-26.9414	18.0867	0.89460	0.0:0.0:1.0:0.0	.	208	P22692	IBP4_HUMAN	D	108;208	ENSP00000437734:G108D;ENSP00000269593:G208D	ENSP00000269593:G208D	G	+	2	0	IGFBP4	35863821	1.000000	0.71417	0.999000	0.59377	0.978000	0.69477	8.446000	0.90329	2.793000	0.96121	0.655000	0.94253	GGC		0.662	IGFBP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257134.1	NM_001552		4	115	0	0	0	1	0	4	115					A	38610295	G	A	38610295	3	1	356	1	0	0	0	0	1	0	0	0	7581	1203	42	3	633	3	IGFBP4	17	38610295	Missense_Mutation	SNP	G	TCGA-M7-A724-01A-12D-A32B-08	31529697	38610295	42584915	32	17846											
ANKFN1	162282	broad.mit.edu	37	chr17	54554926	54554926	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggttacctaaagctctgtagCtctgtggatcaaatcaaagt	12	12	9	8	0	4	0	2	0	2	0	4	1	4	1	1	2	3	4	1	2	6	3	rs146488724	byFrequency	TCGA-M7-A724-01A-12D-A32B-08	TCGA-M7-A724-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da45f3a1-439a-45b0-8e3d-9761899018a9	ef22c980-b6f4-4ffc-a877-20515c382c67	g.chr17:54554926C>T	ENST00000318698.2	+	15	1895	c.1860C>T	c.(1858-1860)agC>agT	p.S620S	ANKFN1_ENST00000566473.2_Silent_p.S620S	NM_153228.2	NP_694960.2	Q8N957	ANKF1_HUMAN	ankyrin-repeat and fibronectin type III domain containing 1	620										NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(11)|lung(27)|ovary(1)|prostate(1)|skin(1)	53						AGCTCTGTAGCTCTGTGGATC	0.373													C|||	3	0.000599042	0	0	5008	,	,		18983	0		0.001	False		,,,				2504	0.002					ENST00000566473.2																			0				NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(11)|lung(27)|ovary(1)|prostate(1)|skin(1)	53						c.(1858-1860)agC>agT		ankyrin-repeat and fibronectin type III domain containing 1		C		0,4406		0,0,2203	128	124	126		1860	2.5	1	17	dbSNP_134	126	3,8597	3.0+/-9.4	0,3,4297	no	coding-synonymous	ANKFN1	NM_153228.2		0,3,6500	TT,TC,CC		0.0349,0.0,0.0231		620/764	54554926	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	162282							g.chr17:54554926C>T	AK095654	CCDS32686.1	17q23.2	2014-02-12	2005-11-15		ENSG00000153930	ENSG00000153930		"Ankyrin repeat domain containing", "Fibronectin type III domain containing"	26766	protein-coding gene	gene with protein product							Standard	NM_153228		Approved	FLJ38335	uc002iun.1	Q8N957	OTTHUMG00000155010	ENST00000318698.2:c.1860C>T	17.37:g.54554926C>T						ANKFN1_ENST00000318698.2_Silent_p.S620S	p.S620S			Q8N957	ANKF1_HUMAN			15	1860	+			620						Silent	SNP	ENST00000318698.2	37	c.1860C>T	CCDS32686.1																																																																																				0.373	ANKFN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338043.1	NM_153228		36	59	0	0	0	1	0	36	59					T	54554926	C	T	54554926	2	4	356	1	0	0	0	0	0	0	0	1	625	796	28	3		3	ANKFN1	17	54554926	Silent	SNP	C	TCGA-M7-A724-01A-12D-A32B-08	15944631	54554926	26640284	33	17847											
ZNF235	9310	broad.mit.edu	37	chr19	44793323	44793323	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	taatcctgctttgtgaagagTtgccatctcattttgattcc	8	17	7	9	0	1	3	1	2	1	1	4	3	3	3	3	0	2	2	3	0	2	6	rs375449680		TCGA-M7-A724-01A-12D-A32B-08	TCGA-M7-A724-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da45f3a1-439a-45b0-8e3d-9761899018a9	ef22c980-b6f4-4ffc-a877-20515c382c67	g.chr19:44793323T>C	ENST00000291182.4	-	5	367	c.265A>G	c.(265-267)Act>Gct	p.T89A	ZNF235_ENST00000589799.1_Intron|ZNF235_ENST00000589248.1_Intron	NM_004234.4	NP_004225.3	Q14590	ZN235_HUMAN	zinc finger protein 235	89					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	29		Prostate(69;0.0352)|all_neural(266;0.116)				TTGTGAAGAGTTGCCATCTCA	0.408																																						ENST00000291182.4																			0				NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	29						c.(265-267)Act>Gct		zinc finger protein 235		T	ALA/THR	0,4394		0,0,2197	37	38	38		265	2.8	0.2	19		38	1,8585		0,1,4292	no	missense	ZNF235	NM_004234.4	58	0,1,6489	CC,CT,TT		0.0116,0.0,0.0077	possibly-damaging	89/739	44793323	1,12979	2197	4293	6490	SO:0001583	missense	9310				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44793323T>C	X78929	CCDS33048.1	19q13.2	2013-01-08	2002-11-04	2002-11-08	ENSG00000159917	ENSG00000159917		"Zinc fingers, C2H2-type", "-"	12866	protein-coding gene	gene with protein product		604749	"zinc finger protein homologous to Zfp93 in mouse"	ZNF270, ZFP93		7865130, 9570955	Standard	NM_004234		Approved	HZF6, ANF270	uc002oza.4	Q14590		ENST00000291182.4:c.265A>G	19.37:g.44793323T>C	ENSP00000291182:p.Thr89Ala					ZNF235_ENST00000589248.1_Intron|ZNF235_ENST00000589799.1_Intron	p.T89A	NM_004234.4	NP_004225.3	Q14590	ZN235_HUMAN			5	367	-		Prostate(69;0.0352)|all_neural(266;0.116)	89					B4DTQ7|O14898|O14899|Q17RR8	Missense_Mutation	SNP	ENST00000291182.4	37	c.265A>G	CCDS33048.1	.	.	.	.	.	.	.	.	.	.	T	11.09	1.536719	0.27475	0.0	1.16E-4	ENSG00000159917	ENST00000433015;ENST00000391957;ENST00000291182;ENST00000359844	T	0.05081	3.5	3.92	2.85	0.33270	.	0.204971	0.24592	N	0.037218	T	0.04182	0.0116	L	0.48642	1.525	0.09310	N	1	B;B	0.33549	0.417;0.293	B;B	0.28011	0.085;0.039	T	0.34950	-0.9808	10	0.07644	T	0.81	.	3.9709	0.09452	0.186:0.1021:0.0:0.7119	.	85;89	Q14590-2;Q14590	.;ZN235_HUMAN	A	85;89;89;11	ENSP00000291182:T89A	ENSP00000291182:T89A	T	-	1	0	ZNF235	49485163	0.001000	0.12720	0.210000	0.23637	0.150000	0.21749	0.368000	0.20399	0.609000	0.30018	0.379000	0.24179	ACT		0.408	ZNF235-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460732.1			31	30	0	0	0	1	0	31	30					C	44793323	T	C	44793323	3	2	356	1	0	0	0	0	1	0	0	0	17785	1725	60	4	1955	4	ZNF235	19	44793323	Missense_Mutation	SNP	T	TCGA-M7-A724-01A-12D-A32B-08		44793323	14335660	34	17848											
DNMT3B	1789	broad.mit.edu	37	chr20	31385104	31385104	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagcaacacgagctgctgcCggtgagcactgggccctgtg	7	6	15	13	2	0	1	0	1	0	0	0	2	0	1	2	2	6	5	2	2	1	0			TCGA-M7-A724-01A-12D-A32B-08	TCGA-M7-A724-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da45f3a1-439a-45b0-8e3d-9761899018a9	ef22c980-b6f4-4ffc-a877-20515c382c67	g.chr20:31385104C>T	ENST00000328111.2	+	14	1810	c.1489C>T	c.(1489-1491)Cgg>Tgg	p.R497W	DNMT3B_ENST00000201963.3_Splice_Site_p.R489W|DNMT3B_ENST00000344505.4_Splice_Site_p.R477W|DNMT3B_ENST00000348286.2_Splice_Site_p.R477W|DNMT3B_ENST00000353855.2_Splice_Site_p.R477W|DNMT3B_ENST00000375623.4_3'UTR|DNMT3B_ENST00000456297.2_Splice_Site_p.R401W|DNMT3B_ENST00000443239.3_Splice_Site_p.R435W	NM_006892.3	NP_008823.1	Q9UBC3	DNM3B_HUMAN	DNA (cytosine-5-)-methyltransferase 3 beta	497	ADD. {ECO:0000255|PROSITE- ProRule:PRU00865}.|Interaction with the PRC2/EED-EZH2 complex. {ECO:0000250}.				C-5 methylation of cytosine (GO:0090116)|cellular response to amino acid stimulus (GO:0071230)|DNA methylation (GO:0006306)|DNA methylation involved in embryo development (GO:0043045)|DNA methylation on cytosine within a CG sequence (GO:0010424)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of gene expression (GO:0010628)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of neuron differentiation (GO:0045666)|protein complex localization (GO:0031503)|regulation of gene expression by genetic imprinting (GO:0006349)|response to drug (GO:0042493)|response to ionizing radiation (GO:0010212)|S-adenosylhomocysteine metabolic process (GO:0046498)|S-adenosylmethioninamine metabolic process (GO:0046499)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear heterochromatin (GO:0005720)|nucleus (GO:0005634)	DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA (cytosine-5-)-methyltransferase activity, acting on CpG substrates (GO:0051718)|DNA-methyltransferase activity (GO:0009008)|metal ion binding (GO:0046872)|transcription corepressor activity (GO:0003714)|unmethylated CpG binding (GO:0045322)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(16)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GAGCTGCTGCCGGTGAGCACT	0.572																																						ENST00000328111.2																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(16)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						c.e14+1		DNA (cytosine-5-)-methyltransferase 3 beta							58	60	59					20																	31385104		2203	4300	6503	SO:0001630	splice_region_variant	1789				negative regulation of histone H3-K9 methylation|positive regulation of gene expression|positive regulation of histone H3-K4 methylation		metal ion binding|protein binding|transcription corepressor activity	g.chr20:31385104C>T		CCDS13204.1, CCDS13205.1, CCDS13206.1, CCDS13207.1, CCDS56183.1, CCDS56184.1	20q11.2	2014-09-17			ENSG00000088305	ENSG00000088305			2979	protein-coding gene	gene with protein product		602900				9662389, 10433969	Standard	NM_006892		Approved		uc002wyc.3	Q9UBC3	OTTHUMG00000032226	ENST00000328111.2:c.1490+1C>T	20.37:g.31385104C>T						DNMT3B_ENST00000353855.2_Splice_Site_p.R477_splice|DNMT3B_ENST00000348286.2_Splice_Site_p.R477_splice|DNMT3B_ENST00000201963.3_Splice_Site_p.R489_splice|DNMT3B_ENST00000344505.4_Splice_Site_p.R477_splice|DNMT3B_ENST00000456297.2_Splice_Site_p.R401_splice|DNMT3B_ENST00000443239.3_Splice_Site_p.R435_splice|DNMT3B_ENST00000375623.4_3'UTR	p.R497_splice	NM_006892.3	NP_008823.1	Q9UBC3	DNM3B_HUMAN			14	1810	+			497			ADD.|Interaction with the PRC2/EED-EZH2 complex (By similarity).		A2A2E2|B4DSM8|B4DSU1|E1P5M6|E1P5M7|E7EN63|E9PBF2|Q9UBD4|Q9UJQ5|Q9UKA6|Q9UNE5|Q9Y5R9|Q9Y5S0	Splice_Site	SNP	ENST00000328111.2	37	c.1490_splice	CCDS13205.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.124428	0.77436	.	.	ENSG00000088305	ENST00000328111;ENST00000353855;ENST00000348286;ENST00000443239;ENST00000456297;ENST00000344505;ENST00000201963	T;T;T;T;T;T;T	0.78126	-1.15;-1.15;-1.15;-1.15;-1.15;-1.15;-1.15	5.43	3.32	0.38043	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, FYVE/PHD-type (1);	0.000000	0.85682	D	0.000000	D	0.88373	0.6419	M	0.87180	2.865	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	0.999;0.999;0.999;1.0;0.999;1.0;0.999	D	0.90180	0.4242	10	0.87932	D	0	-23.791	12.8122	0.57645	0.4451:0.5549:0.0:0.0	.	401;435;196;489;477;477;497	E9PBF2;E7EN63;B3KM53;Q9UBC3-6;Q9UBC3-3;Q9UBC3-2;Q9UBC3	.;.;.;.;.;.;DNM3B_HUMAN	W	497;477;477;435;401;477;489	ENSP00000328547:R497W;ENSP00000313397:R477W;ENSP00000337764:R477W;ENSP00000403169:R435W;ENSP00000412305:R401W;ENSP00000345105:R477W;ENSP00000201963:R489W	ENSP00000201963:R489W	R	+	1	2	DNMT3B	30848765	1.000000	0.71417	1.000000	0.80357	0.633000	0.38033	2.890000	0.48609	1.364000	0.46038	0.655000	0.94253	CGG		0.572	DNMT3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078643.2	NM_006892	Missense_Mutation	38	41	0	0	0	1	0	38	41					T	31385104	C	T	31385104	5	4	356	1	0	0	0	0	0	0	1	0	4677	666	23	2	1579	2	DNMT3B	20	31385104	Splice_Site	SNP	C	TCGA-M7-A724-01A-12D-A32B-08		31385104	31640416	35	17849											
SF3A1	10291	broad.mit.edu	37	chr22	30752730	30752730	+	Frame_Shift_Del	DEL	C	C	-																															gagaggtacctgtttgggctCcgtgggcacgggcggcggcg																										TCGA-M7-A724-01A-12D-A32B-08	TCGA-M7-A724-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da45f3a1-439a-45b0-8e3d-9761899018a9	ef22c980-b6f4-4ffc-a877-20515c382c67	g.chr22:30752730delC	ENST00000215793.8	-	1	206	c.52delG	c.(52-54)gagfs	p.E18fs	CCDC157_ENST00000405659.1_5'UTR|SF3A1_ENST00000439242.1_Frame_Shift_Del_p.E18fs|CCDC157_ENST00000338306.3_5'UTR|CCDC157_ENST00000399824.2_5'UTR	NM_005877.4	NP_005868.1	Q15459	SF3A1_HUMAN	splicing factor 3a, subunit 1, 120kDa	18					gene expression (GO:0010467)|mRNA 3'-splice site recognition (GO:0000389)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U2-type spliceosomal complex (GO:0005684)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|urinary_tract(1)	29						TGTTTGGGCTCCGTGGGCACG	0.721																																						ENST00000439242.1																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|urinary_tract(1)	29						c.(52-54)agfs		splicing factor 3a, subunit 1, 120kDa							5	7	6					22																	30752730		2074	4055	6129	SO:0001589	frameshift_variant	10291				nuclear mRNA 3'-splice site recognition	catalytic step 2 spliceosome|nucleoplasm|U2-type spliceosomal complex	protein binding|RNA binding	g.chr22:30752730delC	X85237	CCDS13875.1	22q12.2	2014-09-17	2002-08-29		ENSG00000099995	ENSG00000099995			10765	protein-coding gene	gene with protein product		605595	"splicing factor 3a, subunit 1, 120kD"			7489498	Standard	NM_005877		Approved	SF3a120, SAP114, PRPF21, Prp21	uc003ahl.3	Q15459	OTTHUMG00000151005	ENST00000215793.8:c.52delG	22.37:g.30752730delC	ENSP00000215793:p.Glu18fs					CCDC157_ENST00000338306.3_5'UTR|SF3A1_ENST00000215793.7_Frame_Shift_Del_p.E18fs|CCDC157_ENST00000405659.1_5'UTR|CCDC157_ENST00000399824.2_5'UTR	p.E18fs	NM_001005409.1	NP_001005409.1	Q15459	SF3A1_HUMAN			1	183	-			18					E9PAW1	Frame_Shift_Del	DEL	ENST00000215793.8	37	c.52delG	CCDS13875.1																																																																																				0.721	SF3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320916.2	NM_005877		2	4						2	4	---	---	---	---	-	30752730	C	-	30752730	7	5	356	1	0	1	0	1	0	0	0	0	14146	864	30	0	2393	0	SF3A1	22	30752730	Frame_Shift_Del	DEL	C	TCGA-M7-A724-01A-12D-A32B-08		30752730	20551836	36	17850											
UXT	8409	broad.mit.edu	37	chrX	47511500	47511500	+	Frame_Shift_Del	DEL	G	G	-																															ctctagcaacatgtggatatGggctttgatattcatggagt																										TCGA-M7-A724-01A-12D-A32B-08	TCGA-M7-A724-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da45f3a1-439a-45b0-8e3d-9761899018a9	ef22c980-b6f4-4ffc-a877-20515c382c67	g.chrX:47511500delG	ENST00000333119.3	-	6	455	c.400delC	c.(400-402)catfs	p.H134fs	ELK1_ENST00000376983.3_5'Flank|ELK1_ENST00000592066.1_5'Flank|ELK1_ENST00000247161.3_5'Flank|ELK1_ENST00000468956.1_5'Flank|UXT_ENST00000335890.2_Frame_Shift_Del_p.H146fs|UXT_ENST00000460840.1_5'UTR|ELK1_ENST00000343894.4_5'Flank	NM_004182.3	NP_004173.1	Q9UBK9	UXT_HUMAN	ubiquitously-expressed, prefoldin-like chaperone	134					centrosome organization (GO:0051297)|microtubule cytoskeleton organization (GO:0000226)|mitochondrion transport along microtubule (GO:0047497)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|protein folding (GO:0006457)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|microtubule organizing center (GO:0005815)|nucleus (GO:0005634)|prefoldin complex (GO:0016272)	beta-tubulin binding (GO:0048487)|chromatin binding (GO:0003682)|microtubule binding (GO:0008017)|RNA polymerase II transcription corepressor activity (GO:0001106)			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(1)	6						ATGTGGATATGGGCTTTGATA	0.488																																						ENST00000335890.2																			0				central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(1)	6						c.(436-438)atfs		ubiquitously-expressed, prefoldin-like chaperone							127	101	110					X																	47511500		2203	4300	6503	SO:0001589	frameshift_variant	8409				centrosome organization|mitochondrion transport along microtubule|protein folding	centrosome|nucleus|prefoldin complex	beta-tubulin binding|microtubule binding|unfolded protein binding	g.chrX:47511500delG	AF092737	CCDS14284.1, CCDS14285.1	Xp11.23-p11.22	2011-11-21	2011-11-21		ENSG00000126756	ENSG00000126756			12641	protein-coding gene	gene with protein product	"androgen receptor trapped clone 27", "SKP2-associated alpha PFD 1"	300234	"ubiquitously-expressed transcript"			10087202, 16221885	Standard	NM_004182		Approved	ART-27, STAP1	uc004dim.3	Q9UBK9	OTTHUMG00000021453	ENST00000333119.3:c.400delC	X.37:g.47511500delG	ENSP00000327797:p.His134fs					UXT_ENST00000460840.1_5'UTR|UXT_ENST00000333119.3_Frame_Shift_Del_p.H134fs	p.H146fs	NM_153477.2	NP_705582.1	Q9UBK9	UXT_HUMAN			5	589	-			134					B2R561|Q5JZG3|Q9Y6E5	Frame_Shift_Del	DEL	ENST00000333119.3	37	c.436delC	CCDS14285.1																																																																																				0.488	UXT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056440.1	NM_153477		2	4						2	4	---	---	---	---	-	47511500	G	-	47511500	7	5	356	1	0	1	0	1	0	0	0	0	17107	1348	47	0	81	0	UXT	23	47511500	Frame_Shift_Del	DEL	G	TCGA-M7-A724-01A-12D-A32B-08		47511500	107759060	37	17851											
NLGN3	54413	broad.mit.edu	37	chrX	70375183	70375183	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttatggcaatgtcatcgtcAtcaccctcaactatcgggtt	9	13	8	11	2	4	0	4	0	0	0	6	0	4	0	1	2	1	3	1	2	4	3			TCGA-M7-A724-01A-12D-A32B-08	TCGA-M7-A724-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da45f3a1-439a-45b0-8e3d-9761899018a9	ef22c980-b6f4-4ffc-a877-20515c382c67	g.chrX:70375183A>T	ENST00000358741.3	+	5	1000	c.697A>T	c.(697-699)Atc>Ttc	p.I233F	NLGN3_ENST00000374051.3_Missense_Mutation_p.I213F|NLGN3_ENST00000476589.1_3'UTR|NLGN3_ENST00000536169.1_Missense_Mutation_p.I193F	NM_181303.1	NP_851820.1	Q9NZ94	NLGN3_HUMAN	neuroligin 3	233					adult behavior (GO:0030534)|axon extension (GO:0048675)|learning (GO:0007612)|neuron cell-cell adhesion (GO:0007158)|oligodendrocyte differentiation (GO:0048709)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|receptor-mediated endocytosis (GO:0006898)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of long-term synaptic potentiation (GO:1900271)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|regulation of synaptic transmission (GO:0050804)|regulation of terminal button organization (GO:2000331)|rhythmic synaptic transmission (GO:0060024)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse organization (GO:0050808)|visual learning (GO:0008542)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|cell surface (GO:0009986)|endocytic vesicle (GO:0030139)|excitatory synapse (GO:0060076)|integral component of plasma membrane (GO:0005887)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|neurexin family protein binding (GO:0042043)|receptor activity (GO:0004872)			biliary_tract(1)|breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	37	Renal(35;0.156)					TGTCATCGTCATCACCCTCAA	0.532																																					Esophageal Squamous(103;760 1488 16849 22250 40351)	ENST00000374051.3																			0				biliary_tract(1)|breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	37						c.(637-639)Atc>Ttc		neuroligin 3							295	194	228					X																	70375183		2203	4300	6503	SO:0001583	missense	54413				neuron cell-cell adhesion|positive regulation of synaptogenesis|receptor-mediated endocytosis|social behavior|synapse assembly	cell surface|endocytic vesicle|integral to plasma membrane|synapse	neurexin binding|receptor activity	g.chrX:70375183A>T	AB040913	CCDS14407.1, CCDS55441.1, CCDS55442.1	Xq13.1	2008-08-01			ENSG00000196338	ENSG00000196338			14289	protein-coding gene	gene with protein product		300336				10767552, 10819331	Standard	NM_181303		Approved	HNL3, KIAA1480, ASPGX1, AUTSX1	uc004dzd.2	Q9NZ94	OTTHUMG00000021790	ENST00000358741.3:c.697A>T	X.37:g.70375183A>T	ENSP00000351591:p.Ile233Phe					NLGN3_ENST00000476589.1_3'UTR|NLGN3_ENST00000536169.1_Missense_Mutation_p.I193F|NLGN3_ENST00000358741.3_Missense_Mutation_p.I233F	p.I213F	NM_018977.3	NP_061850.2	Q9NZ94	NLGN3_HUMAN			4	959	+	Renal(35;0.156)		233					B2RBK1|D2X2H6|D3DVV0|D3DVV1|Q86V51|Q8NCD0|Q9NZ95|Q9NZ96|Q9NZ97|Q9P248	Missense_Mutation	SNP	ENST00000358741.3	37	c.637A>T	CCDS55441.1	.	.	.	.	.	.	.	.	.	.	A	19.66	3.868763	0.72065	.	.	ENSG00000196338	ENST00000536169;ENST00000542063;ENST00000374051;ENST00000395855;ENST00000358741	T;T;T;T	0.70399	-0.48;-0.48;-0.48;-0.48	4.43	4.43	0.53597	Carboxylesterase, type B (1);	0.000000	0.85682	D	0.000000	T	0.82217	0.4989	M	0.76170	2.325	0.58432	D	0.999992	D;D;D;P	0.76494	0.993;0.999;0.957;0.947	P;D;P;P	0.71656	0.872;0.974;0.873;0.8	D	0.84676	0.0714	10	0.87932	D	0	.	13.0397	0.58891	1.0:0.0:0.0:0.0	.	193;193;233;213	D3DVV1;B7Z5Y1;Q9NZ94;Q9NZ94-2	.;.;NLGN3_HUMAN;.	F	193;96;213;193;233	ENSP00000445298:I193F;ENSP00000363163:I213F;ENSP00000379196:I193F;ENSP00000351591:I233F	ENSP00000351591:I233F	I	+	1	0	NLGN3	70291908	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.097000	0.64542	1.646000	0.50622	0.438000	0.28831	ATC		0.532	NLGN3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057121.1	NM_018977		4	47	0	0	0	1	0	4	47					T	70375183	A	T	70375183	3	4	356	1	0	0	0	0	1	0	0	0	10463	217	8	5	711	5	NLGN3	23	70375183	Missense_Mutation	SNP	A	TCGA-M7-A724-01A-12D-A32B-08	22863683	70375183	84895377	38	17852											
SMARCA1	6594	broad.mit.edu	37	chrX	128624100	128624100	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tctttctacaatcctctcttCaacagtgttgtcagtgatga	9	16	6	10	0	5	2	2	2	3	0	7	2	6	2	1	0	2	1	1	0	3	4			TCGA-M7-A724-01A-12D-A32B-08	TCGA-M7-A724-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da45f3a1-439a-45b0-8e3d-9761899018a9	ef22c980-b6f4-4ffc-a877-20515c382c67	g.chrX:128624100C>T	ENST00000371122.4	-	15	2014	c.1885G>A	c.(1885-1887)Gaa>Aaa	p.E629K	SMARCA1_ENST00000371121.3_Missense_Mutation_p.E617K|SMARCA1_ENST00000371123.1_Missense_Mutation_p.E617K	NM_003069.3	NP_003060.2	P28370	SMCA1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1	629	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|brain development (GO:0007420)|chromatin remodeling (GO:0006338)|DNA strand renaturation (GO:0000733)|neuron differentiation (GO:0030182)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of neural precursor cell proliferation (GO:2000177)|transcription, DNA-templated (GO:0006351)	CERF complex (GO:0090537)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|NURF complex (GO:0016589)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(13)|ovary(5)|prostate(1)|skin(1)	45						ATCCTCTCTTCAACAGTGTTG	0.353																																						ENST00000371122.4																			0				biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(13)|ovary(5)|prostate(1)|skin(1)	45						c.(1885-1887)Gaa>Aaa		SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1							129	110	116					X																	128624100		2203	4300	6503	SO:0001583	missense	6594				ATP-dependent chromatin remodeling|brain development|neuron differentiation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	NURF complex	ATP binding|DNA binding|helicase activity|nucleosome binding|protein binding	g.chrX:128624100C>T	M88163	CCDS14612.1, CCDS76018.1, CCDS76019.1	Xq25	2008-02-05			ENSG00000102038	ENSG00000102038			11097	protein-coding gene	gene with protein product		300012		SNF2L1, SNF2L		1408766, 14609955	Standard	XM_005262461		Approved	SNF2LB, NURF140, ISWI, SWI	uc004eun.4	P28370	OTTHUMG00000022370	ENST00000371122.4:c.1885G>A	X.37:g.128624100C>T	ENSP00000360163:p.Glu629Lys					SMARCA1_ENST00000371123.1_Missense_Mutation_p.E617K|SMARCA1_ENST00000371121.3_Missense_Mutation_p.E617K	p.E629K	NM_003069.3	NP_003060.2	P28370	SMCA1_HUMAN			15	2014	-			629			Helicase C-terminal.		Q5JV41|Q5JV42	Missense_Mutation	SNP	ENST00000371122.4	37	c.1885G>A	CCDS14612.1	.	.	.	.	.	.	.	.	.	.	C	34	5.388062	0.95988	.	.	ENSG00000102038	ENST00000371121;ENST00000371123;ENST00000371122;ENST00000450039	D;D;D;D	0.85088	-1.94;-1.94;-1.94;-1.94	5.23	5.23	0.72850	Helicase, C-terminal (1);	0.000000	0.64402	D	0.000003	D	0.96253	0.8778	H	0.99770	4.765	0.80722	D	1	D;D;D;D	0.71674	0.997;0.997;0.998;0.997	D;D;D;D	0.70016	0.928;0.928;0.967;0.928	D	0.98678	1.0691	10	0.87932	D	0	-17.8376	18.1631	0.89716	0.0:1.0:0.0:0.0	.	608;629;617;629	E9PCY3;B7ZLQ5;P28370-2;P28370	.;.;.;SMCA1_HUMAN	K	617;617;629;608	ENSP00000360162:E617K;ENSP00000360164:E617K;ENSP00000360163:E629K;ENSP00000404275:E608K	ENSP00000360162:E617K	E	-	1	0	SMARCA1	128451781	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.776000	0.85560	2.313000	0.78055	0.523000	0.50628	GAA		0.353	SMARCA1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058206.1	NM_003069		23	6	0	0	0	1	0	23	6					T	128624100	C	T	128624100	3	4	356	1	0	0	0	0	1	0	0	0	14768	835	29	3	1319	3	SMARCA1	23	128624100	Missense_Mutation	SNP	C	TCGA-M7-A724-01A-12D-A32B-08	58248917	128624100	26646460	39	17853											
VPS13D	55187	broad.mit.edu	37	chr1	12333082	12333082	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagagtaaacgatggaccgTgcggctggatatttctgccc	9	9	14	9	3	1	1	0	0	1	1	1	5	1	3	2	4	3	2	2	4	3	3			TCGA-M7-A725-01A-12D-A32B-08	TCGA-M7-A725-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc15245-4b29-4381-929e-2e40cf170982	9b19febe-309d-4958-8102-f0fc7490dabb	g.chr1:12333082T>A	ENST00000358136.3	+	18	2256	c.2126T>A	c.(2125-2127)gTg>gAg	p.V709E	VPS13D_ENST00000356315.4_Missense_Mutation_p.V709E	NM_015378.2	NP_056193.2			vacuolar protein sorting 13 homolog D (S. cerevisiae)											NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		CGATGGACCGTGCGGCTGGAT	0.428																																						ENST00000358136.3																			0				NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130						c.(2125-2127)gTg>gAg		vacuolar protein sorting 13 homolog D (S. cerevisiae)							146	136	140					1																	12333082		2203	4300	6503	SO:0001583	missense	55187				protein localization			g.chr1:12333082T>A	AJ608774	CCDS30588.1, CCDS30589.1	1p36.21	2008-02-05	2006-04-04		ENSG00000048707	ENSG00000048707			23595	protein-coding gene	gene with protein product		608877	"vacuolar protein sorting 13D (yeast)"				Standard	NM_015378		Approved	FLJ10619, KIAA0453	uc001atv.3	Q5THJ4	OTTHUMG00000013155	ENST00000358136.3:c.2126T>A	1.37:g.12333082T>A	ENSP00000350854:p.Val709Glu					VPS13D_ENST00000356315.4_Missense_Mutation_p.V709E	p.V709E	NM_015378.2	NP_056193.2	Q5THJ4	VP13D_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)	18	2256	+	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)	709						Missense_Mutation	SNP	ENST00000358136.3	37	c.2126T>A	CCDS30588.1	.	.	.	.	.	.	.	.	.	.	T	22.0	4.228549	0.79576	.	.	ENSG00000048707	ENST00000356315;ENST00000358136	T;T	0.57595	0.39;0.39	5.16	5.16	0.70880	.	0.120397	0.56097	D	0.000040	T	0.56016	0.1957	L	0.43152	1.355	0.80722	D	1	D;P	0.53885	0.963;0.938	P;P	0.50754	0.649;0.603	T	0.61252	-0.7100	10	0.87932	D	0	.	15.0014	0.71476	0.0:0.0:0.0:1.0	.	709;709	Q5THJ4-2;Q5THJ4	.;VP13D_HUMAN	E	709	ENSP00000348666:V709E;ENSP00000350854:V709E	ENSP00000348666:V709E	V	+	2	0	VPS13D	12255669	1.000000	0.71417	0.780000	0.31762	0.470000	0.32858	7.651000	0.83577	1.929000	0.55896	0.477000	0.44152	GTG		0.428	VPS13D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000036897.2	NM_015378		18	66	0	0	0	1	0	18	66					A	12333082	T	A	12333082	3	1	357	1	0	0	0	0	1	0	0	0	17189	1696	59	5	2192	5	VPS13D	1	12333082	Missense_Mutation	SNP	T	TCGA-M7-A725-01A-12D-A32B-08		12333082	236917539	1	17854											
RCC2	55920	broad.mit.edu	37	chr1	17752171	17752171	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acaaattctgaccgagattgCggtaagcagctgcagagaga	14	7	12	8	2	1	4	0	1	1	3	1	6	1	4	1	1	4	4	1	1	2	3			TCGA-M7-A725-01A-12D-A32B-08	TCGA-M7-A725-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc15245-4b29-4381-929e-2e40cf170982	9b19febe-309d-4958-8102-f0fc7490dabb	g.chr1:17752171C>T	ENST00000375436.4	-	4	576	c.389G>A	c.(388-390)cGc>cAc	p.R130H	RCC2_ENST00000375433.3_Missense_Mutation_p.R130H	NM_018715.3	NP_061185.1	Q9P258	RCC2_HUMAN	regulator of chromosome condensation 2	130					chromosome passenger complex localization to kinetochore (GO:0072356)|endosome organization (GO:0007032)|focal adhesion assembly (GO:0048041)|integrin-mediated signaling pathway (GO:0007229)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of GTPase activity (GO:0034260)|negative regulation of substrate adhesion-dependent cell spreading (GO:1900025)|positive regulation of attachment of spindle microtubules to kinetochore (GO:0051987)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|regulation of cell migration (GO:0030334)	chromosome, centromeric core domain (GO:0034506)|cytosol (GO:0005829)|microtubule (GO:0005874)|midbody (GO:0030496)|mitotic spindle midzone (GO:1990023)|nucleus (GO:0005634)	microtubule binding (GO:0008017)|poly(A) RNA binding (GO:0044822)|Rac GTPase binding (GO:0048365)			breast(2)|endometrium(1)|kidney(3)|large_intestine(7)|lung(4)	17		Colorectal(325;0.000147)|Breast(348;0.00122)|Renal(390;0.00145)|all_lung(284;0.0054)|Lung NSC(340;0.00566)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00492)|BRCA - Breast invasive adenocarcinoma(304;7.69e-06)|COAD - Colon adenocarcinoma(227;1.19e-05)|Kidney(64;0.000189)|KIRC - Kidney renal clear cell carcinoma(64;0.00273)|STAD - Stomach adenocarcinoma(196;0.0135)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.19)		ACCGAGATTGCGGTAAGCAGC	0.612																																						ENST00000375436.4																			0				breast(2)|endometrium(1)|kidney(3)|large_intestine(7)|lung(4)	17						c.(388-390)cGc>cAc		regulator of chromosome condensation 2							27	29	29					1																	17752171		2203	4297	6500	SO:0001583	missense	55920				cell division|mitotic prometaphase	chromosome, centromeric region|cytosol|microtubule|nucleolus|spindle		g.chr1:17752171C>T		CCDS181.1	1p36.13	2010-05-05			ENSG00000179051	ENSG00000179051			30297	protein-coding gene	gene with protein product		609587				10819331, 12919680	Standard	NM_018715		Approved	TD-60	uc001bal.3	Q9P258	OTTHUMG00000002513	ENST00000375436.4:c.389G>A	1.37:g.17752171C>T	ENSP00000364585:p.Arg130His					RCC2_ENST00000375433.3_Missense_Mutation_p.R130H	p.R130H	NM_018715.3	NP_061185.1	Q9P258	RCC2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00492)|BRCA - Breast invasive adenocarcinoma(304;7.69e-06)|COAD - Colon adenocarcinoma(227;1.19e-05)|Kidney(64;0.000189)|KIRC - Kidney renal clear cell carcinoma(64;0.00273)|STAD - Stomach adenocarcinoma(196;0.0135)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.19)	4	576	-		Colorectal(325;0.000147)|Breast(348;0.00122)|Renal(390;0.00145)|all_lung(284;0.0054)|Lung NSC(340;0.00566)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)	130					Q8IVL9|Q9BSN6|Q9NPV8	Missense_Mutation	SNP	ENST00000375436.4	37	c.389G>A	CCDS181.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.384703	0.82792	.	.	ENSG00000179051	ENST00000375436;ENST00000375433	T;T	0.37584	1.19;1.19	5.51	5.51	0.81932	Regulator of chromosome condensation/beta-lactamase-inhibitor protein II (2);	0.000000	0.85682	D	0.000000	T	0.46308	0.1386	L	0.44542	1.39	0.58432	D	0.999999	D	0.71674	0.998	P	0.55667	0.781	T	0.10567	-1.0624	10	0.27082	T	0.32	-20.4314	18.3426	0.90311	0.0:1.0:0.0:0.0	.	130	Q9P258	RCC2_HUMAN	H	130	ENSP00000364585:R130H;ENSP00000364582:R130H	ENSP00000364582:R130H	R	-	2	0	RCC2	17624758	1.000000	0.71417	1.000000	0.80357	0.809000	0.45718	5.995000	0.70631	2.756000	0.94617	0.655000	0.94253	CGC		0.612	RCC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007144.1	NM_018715		3	17	0	0	0	1	0	3	17					T	17752171	C	T	17752171	3	4	357	1	0	0	0	0	1	0	0	0	13174	768	27	1	1219	1	RCC2	1	17752171	Missense_Mutation	SNP	C	TCGA-M7-A725-01A-12D-A32B-08	5419089	17752171	231498450	2	17855											
HSPG2	3339	broad.mit.edu	37	chr1	22204695	22204695	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtaccttacagcggcaggccTccccggaggtccccatgctg	6	7	12	16	2	0	0	0	0	0	0	2	1	2	1	6	4	4	3	6	4	2	2			TCGA-M7-A725-01A-12D-A32B-08	TCGA-M7-A725-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc15245-4b29-4381-929e-2e40cf170982	9b19febe-309d-4958-8102-f0fc7490dabb	g.chr1:22204695T>C	ENST00000374695.3	-	21	2748	c.2669A>G	c.(2668-2670)gAg>gGg	p.E890G		NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	890	Laminin EGF-like 4; truncated. {ECO:0000255|PROSITE-ProRule:PRU00460}.			EA -> RT (in Ref. 6; AAB21121). {ECO:0000305}.	angiogenesis (GO:0001525)|brain development (GO:0007420)|carbohydrate metabolic process (GO:0005975)|cardiac muscle tissue development (GO:0048738)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|chondrocyte differentiation (GO:0002062)|chondroitin sulfate metabolic process (GO:0030204)|embryonic skeletal system morphogenesis (GO:0048704)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|lipoprotein metabolic process (GO:0042157)|phototransduction, visible light (GO:0007603)|protein localization (GO:0008104)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	basal lamina (GO:0005605)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Palifermin(DB00039)	GCGGCAGGCCTCCCCGGAGGT	0.637																																						ENST00000374695.3																			0				breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127						c.(2668-2670)gAg>gGg		heparan sulfate proteoglycan 2	Becaplermin(DB00102)|Palifermin(DB00039)						30	31	31					1																	22204695		2203	4300	6503	SO:0001583	missense	3339				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding	g.chr1:22204695T>C	M85289	CCDS30625.1	1p36.1-p35	2013-01-29	2007-02-16	2007-02-16	ENSG00000142798	ENSG00000142798		"Proteoglycans / Extracellular Matrix : Other", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5273	protein-coding gene	gene with protein product	"perlecan proteoglycan"	142461	"Schwartz-Jampel syndrome 1 (chondrodystrophic myotonia)"	SJS1		1685141, 11941538	Standard	XM_005245863		Approved	perlecan, PRCAN	uc001bfj.3	P98160	OTTHUMG00000002674	ENST00000374695.3:c.2669A>G	1.37:g.22204695T>C	ENSP00000363827:p.Glu890Gly						p.E890G	NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	21	2748	-		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)	890	EA -> RT (in Ref. 6; AAB21121).		Laminin EGF-like 4; truncated.		Q16287|Q5SZI3|Q9H3V5	Missense_Mutation	SNP	ENST00000374695.3	37	c.2669A>G	CCDS30625.1	.	.	.	.	.	.	.	.	.	.	T	13.83	2.353835	0.41700	.	.	ENSG00000142798	ENST00000374695	T	0.62941	-0.01	5.59	5.59	0.84812	EGF-like, laminin (2);	0.182306	0.26166	N	0.025959	T	0.29684	0.0741	N	0.00686	-1.255	0.32344	N	0.559342	B	0.06786	0.001	B	0.08055	0.003	T	0.34079	-0.9843	10	0.24483	T	0.36	.	12.1784	0.54198	0.0:0.0:0.0:1.0	.	890	P98160	PGBM_HUMAN	G	890	ENSP00000363827:E890G	ENSP00000363827:E890G	E	-	2	0	HSPG2	22077282	0.263000	0.24083	0.938000	0.37757	0.776000	0.43924	1.475000	0.35409	2.120000	0.65058	0.460000	0.39030	GAG		0.637	HSPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007598.1	NM_005529		4	11	0	0	0	1	0	4	11					C	22204695	T	C	22204695	3	2	357	1	0	0	0	0	1	0	0	0	7430	1551	54	4	10814	4	HSPG2	1	22204695	Missense_Mutation	SNP	T	TCGA-M7-A725-01A-12D-A32B-08	4452524	22204695	227045926	3	17856											
LGR6	59352	broad.mit.edu	37	chr1	202288000	202288000	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccctagcctatgctgcggccGgggagctggagaagagctcc	7	6	15	13	2	0	2	0	0	0	2	1	4	1	3	4	4	5	3	4	4	3	2	rs144773392		TCGA-M7-A725-01A-12D-A32B-08	TCGA-M7-A725-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc15245-4b29-4381-929e-2e40cf170982	9b19febe-309d-4958-8102-f0fc7490dabb	g.chr1:202288000G>A	ENST00000367278.3	+	18	2658	c.2569G>A	c.(2569-2571)Ggg>Agg	p.G857R	LGR6_ENST00000439764.2_Missense_Mutation_p.G718R|LGR6_ENST00000255432.7_Missense_Mutation_p.G805R	NM_001017403.1	NP_001017403.1	Q9HBX8	LGR6_HUMAN	leucine-rich repeat containing G protein-coupled receptor 6	857					G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell migration (GO:0030335)|positive regulation of Wnt signaling pathway (GO:0030177)|Wnt signaling pathway (GO:0016055)	integral component of plasma membrane (GO:0005887)|trans-Golgi network membrane (GO:0032588)|vesicle (GO:0031982)	transmembrane signaling receptor activity (GO:0004888)			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	36						TGCTGCGGCCGGGGAGCTGGA	0.642													G|||	1	0.000199681	8e-04	0	5008	,	,		18002	0		0	False		,,,				2504	0					ENST00000367278.3																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	36						c.(2569-2571)Ggg>Agg		leucine-rich repeat containing G protein-coupled receptor 6		G	ARG/GLY,ARG/GLY,ARG/GLY	0,4406		0,0,2203	48	58	55		2569,2152,2413	-8.8	0	1	dbSNP_134	55	2,8598	2.2+/-6.3	0,2,4298	yes	missense,missense,missense	LGR6	NM_001017403.1,NM_001017404.1,NM_021636.2	125,125,125	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	benign,benign,benign	857/968,718/829,805/916	202288000	2,13004	2203	4300	6503	SO:0001583	missense	59352					integral to membrane|plasma membrane	protein-hormone receptor activity	g.chr1:202288000G>A	AF190501	CCDS1424.1, CCDS30971.1, CCDS30972.1	1q32.1	2012-08-21	2011-01-25		ENSG00000133067	ENSG00000133067		"GPCR / Class A : Orphans"	19719	protein-coding gene	gene with protein product		606653	"leucine-rich repeat-containing G protein-coupled receptor 6"			10935549	Standard	XM_005245404		Approved	FLJ14471	uc001gxu.3	Q9HBX8	OTTHUMG00000041383	ENST00000367278.3:c.2569G>A	1.37:g.202288000G>A	ENSP00000356247:p.Gly857Arg					LGR6_ENST00000255432.7_Missense_Mutation_p.G805R|LGR6_ENST00000439764.2_Missense_Mutation_p.G718R	p.G857R	NM_001017403.1	NP_001017403.1	Q9HBX8	LGR6_HUMAN			18	2658	+			857					Q5T509|Q5T512|Q6UY15|Q86VU0|Q96K69|Q9BYD7	Missense_Mutation	SNP	ENST00000367278.3	37	c.2569G>A	CCDS30971.1	.	.	.	.	.	.	.	.	.	.	G	5.335	0.247066	0.10130	0.0	2.33E-4	ENSG00000133067	ENST00000367278;ENST00000255432;ENST00000439764	T;T;T	0.59502	0.26;0.68;0.72	4.42	-8.84	0.00803	.	1.090610	0.06882	N	0.802755	T	0.31167	0.0788	N	0.22421	0.69	0.09310	N	1	B;B;B	0.13594	0.008;0.001;0.004	B;B;B	0.08055	0.002;0.003;0.002	T	0.11421	-1.0588	10	0.27082	T	0.32	.	2.292	0.04141	0.3425:0.1977:0.3678:0.0921	.	718;805;857	Q9HBX8-1;Q9HBX8-2;Q9HBX8	.;.;LGR6_HUMAN	R	857;805;718	ENSP00000356247:G857R;ENSP00000255432:G805R;ENSP00000387869:G718R	ENSP00000255432:G805R	G	+	1	0	LGR6	200554623	0.012000	0.17670	0.000000	0.03702	0.221000	0.24807	1.210000	0.32370	-2.293000	0.00664	-0.350000	0.07774	GGG		0.642	LGR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000099143.1	NM_021636		31	61	0	0	0	1	0	31	61					A	202288000	G	A	202288000	3	1	357	1	0	0	0	0	1	0	0	0	8758	1116	39	2	2786	2	LGR6	1	202288000	Missense_Mutation	SNP	G	TCGA-M7-A725-01A-12D-A32B-08	180083305	202288000	46962621	4	17857											
MARK1	4139	broad.mit.edu	37	chr1	220792011	220792011	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gagttttacgagggaagtacCgtattcccttctatatgtcc	9	14	9	9	2	1	0	0	0	1	0	3	3	3	1	3	1	2	3	3	1	6	8			TCGA-M7-A725-01A-12D-A32B-08	TCGA-M7-A725-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc15245-4b29-4381-929e-2e40cf170982	9b19febe-309d-4958-8102-f0fc7490dabb	g.chr1:220792011C>G	ENST00000366917.4	+	9	1089	c.823C>G	c.(823-825)Cgt>Ggt	p.R275G	MARK1_ENST00000366918.4_Missense_Mutation_p.R253G|MARK1_ENST00000402574.1_Missense_Mutation_p.R140G					MAP/microtubule affinity-regulating kinase 1											central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(12)|lung(22)|ovary(4)|pancreas(1)|skin(3)|stomach(3)|urinary_tract(1)	63				GBM - Glioblastoma multiforme(131;0.0407)		AGGGAAGTACCGTATTCCCTT	0.353																																						ENST00000402574.1																			0				central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(12)|lung(22)|ovary(4)|pancreas(1)|skin(3)|stomach(3)|urinary_tract(1)	63						c.(418-420)Cgt>Ggt		MAP/microtubule affinity-regulating kinase 1							98	100	99					1																	220792011		2203	4300	6503	SO:0001583	missense	4139				intracellular protein kinase cascade	cytoplasm|microtubule cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr1:220792011C>G	AF154845	CCDS31029.2, CCDS65789.1, CCDS73033.1, CCDS73034.1	1q41	2013-06-27			ENSG00000116141	ENSG00000116141			6896	protein-coding gene	gene with protein product		606511				9108484	Standard	NM_018650		Approved	MARK, PAR-1C	uc001hmn.4	Q9P0L2	OTTHUMG00000037351	ENST00000366917.4:c.823C>G	1.37:g.220792011C>G	ENSP00000355884:p.Arg275Gly					MARK1_ENST00000366917.4_Missense_Mutation_p.R275G|MARK1_ENST00000366918.4_Missense_Mutation_p.R253G	p.R140G	NM_018650.3	NP_061120.3	Q9P0L2	MARK1_HUMAN		GBM - Glioblastoma multiforme(131;0.0407)	9	1420	+			275			Protein kinase.			Missense_Mutation	SNP	ENST00000366917.4	37	c.418C>G	CCDS31029.2	.	.	.	.	.	.	.	.	.	.	C	15.56	2.869967	0.51588	.	.	ENSG00000116141	ENST00000402574;ENST00000366918;ENST00000366917	T;T;T	0.66099	-0.19;-0.19;-0.19	5.85	3.97	0.46021	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.70141	0.3190	L	0.35249	1.045	0.80722	D	1	D;D;D;P	0.89917	1.0;1.0;0.967;0.947	D;D;P;P	0.78314	0.99;0.991;0.882;0.831	T	0.73232	-0.4048	10	0.87932	D	0	.	15.405	0.74871	0.2543:0.7457:0.0:0.0	.	275;140;275;253	B4DIB3;Q9P0L2-2;Q9P0L2;Q9P0L2-3	.;.;MARK1_HUMAN;.	G	140;253;275	ENSP00000386017:R140G;ENSP00000355885:R253G;ENSP00000355884:R275G	ENSP00000355884:R275G	R	+	1	0	MARK1	218858634	1.000000	0.71417	0.986000	0.45419	0.229000	0.25112	5.883000	0.69721	0.796000	0.33947	-0.169000	0.13324	CGT		0.353	MARK1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090899.1			4	111	0	0	0	1	0	4	111					G	220792011	C	G	220792011	3	3	357	1	0	0	0	0	1	0	0	0	9312	652	23	5	857	5	MARK1	1	220792011	Missense_Mutation	SNP	C	TCGA-M7-A725-01A-12D-A32B-08	18504011	220792011	28458610	5	17858											
ZRANB3	84083	broad.mit.edu	37	chr2	135965229	135965229	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aaccgtgaatcccaagagttCgctttacatgcttgcttagt	10	13	8	10	2	0	2	0	1	0	1	2	2	1	2	2	0	4	4	2	0	5	5	rs202125924		TCGA-M7-A725-01A-12D-A32B-08	TCGA-M7-A725-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc15245-4b29-4381-929e-2e40cf170982	9b19febe-309d-4958-8102-f0fc7490dabb	g.chr2:135965229C>T	ENST00000264159.6	-	19	2900	c.2784G>A	c.(2782-2784)gcG>gcA	p.A928A	ZRANB3_ENST00000536680.1_Silent_p.A926A|ZRANB3_ENST00000401392.1_Silent_p.A926A|ZRANB3_ENST00000412849.1_5'UTR	NM_032143.2	NP_115519.2	Q5FWF4	ZRAB3_HUMAN	zinc finger, RAN-binding domain containing 3	928					cellular response to DNA damage stimulus (GO:0006974)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|DNA rewinding (GO:0036292)|DNA strand renaturation (GO:0000733)|negative regulation of DNA recombination (GO:0045910)|replication fork processing (GO:0031297)|replication fork protection (GO:0048478)|response to UV (GO:0009411)	nuclear replication fork (GO:0043596)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|endodeoxyribonuclease activity (GO:0004520)|helicase activity (GO:0004386)|K63-linked polyubiquitin binding (GO:0070530)|zinc ion binding (GO:0008270)			NS(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|upper_aerodigestive_tract(1)	20				BRCA - Breast invasive adenocarcinoma(221;0.135)		CCCAAGAGTTCGCTTTACATG	0.428													C|||	1	0.000199681	8e-04	0	5008	,	,		21659	0		0	False		,,,				2504	0					ENST00000401392.1																			0				NS(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|upper_aerodigestive_tract(1)	20						c.(2776-2778)gcG>gcA		zinc finger, RAN-binding domain containing 3							209	194	199					2																	135965229		1926	4140	6066	SO:0001819	synonymous_variant	84083					intracellular	ATP binding|DNA binding|endonuclease activity|helicase activity|zinc ion binding	g.chr2:135965229C>T	AL136824	CCDS46419.1, CCDS67963.1, CCDS74580.1	2q21.3	2013-05-13			ENSG00000121988	ENSG00000121988		"Zinc fingers, RAN-binding domain containing"	25249	protein-coding gene	gene with protein product						11230166	Standard	XM_005263809		Approved	DKFZP434B1727	uc002tum.3	Q5FWF4	OTTHUMG00000150475	ENST00000264159.6:c.2784G>A	2.37:g.135965229C>T						ZRANB3_ENST00000536680.1_Silent_p.A926A|ZRANB3_ENST00000412849.1_5'UTR|ZRANB3_ENST00000264159.6_Silent_p.A928A	p.A926A			Q5FWF4	ZRAB3_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.135)	19	2990	-			928					B3KYA1|B4E375|B5MDI3|D3DP76|E9PBP0|Q53SM1|Q6P2C4|Q8N1P4|Q9H0E8	Silent	SNP	ENST00000264159.6	37	c.2778G>A	CCDS46419.1																																																																																				0.428	ZRANB3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318254.1	NM_032143		10	162	0	0	0	1	0	10	162					T	135965229	C	T	135965229	2	4	357	1	0	0	0	0	0	0	0	1	18221	871	31	2		2	ZRANB3	2	135965229	Silent	SNP	C	TCGA-M7-A725-01A-12D-A32B-08		135965229	107234144	6	17859											
TTN	7273	broad.mit.edu	37	chr2	179594623	179594623	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaaatgttgttgactgtccAttcctcagcactaagactgg	10	13	8	10	0	2	2	2	1	0	1	4	2	4	2	2	1	1	3	2	1	2	4			TCGA-M7-A725-01A-12D-A32B-08	TCGA-M7-A725-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc15245-4b29-4381-929e-2e40cf170982	9b19febe-309d-4958-8102-f0fc7490dabb	g.chr2:179594623A>T	ENST00000591111.1	-	61	17630	c.17406T>A	c.(17404-17406)aaT>aaA	p.N5802K	TTN_ENST00000342992.6_Missense_Mutation_p.N4875K|TTN-AS1_ENST00000585451.1_RNA|RP11-171I2.1_ENST00000590024.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000589042.1_Missense_Mutation_p.N6119K			Q8WZ42	TITIN_HUMAN	titin	12604	Ig-like 39.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTGACTGTCCATTCCTCAGCA	0.383																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(18355-18357)aaT>aaA		titin							48	47	47					2																	179594623		1881	4117	5998	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179594623A>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.17406T>A	2.37:g.179594623A>T	ENSP00000465570:p.Asn5802Lys					TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.N5802K|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.N4875K	p.N6119K	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		63	18581	-			5802			Ig-like 42.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.18357T>A		.	.	.	.	.	.	.	.	.	.	A	12.15	1.850156	0.32699	.	.	ENSG00000155657	ENST00000342992	T	0.65916	-0.18	5.92	-3.05	0.05396	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.32102	0.0818	N	0.03253	-0.375	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.02661	-1.1127	9	0.87932	D	0	.	6.2359	0.20762	0.3273:0.0:0.4195:0.2532	.	5802	Q8WZ42	TITIN_HUMAN	K	4875	ENSP00000343764:N4875K	ENSP00000343764:N4875K	N	-	3	2	TTN	179302868	0.968000	0.33430	0.993000	0.49108	0.990000	0.78478	0.148000	0.16224	-0.312000	0.08741	-0.290000	0.09829	AAT		0.383	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		10	9	0	0	0	1	0	10	9					T	179594623	A	T	179594623	3	4	357	1	0	0	0	0	1	0	0	0	16732	214	8	5	86372	5	TTN	2	179594623	Missense_Mutation	SNP	A	TCGA-M7-A725-01A-12D-A32B-08	43629394	179594623	63604750	7	17860											
SATB2	23314	broad.mit.edu	37	chr2	200233398	200233398	+	Nonsense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gttgctgacacattggcataAtatgtgctatttacaatgga	12	14	9	6	0	0	1	0	1	0	0	0	2	0	2	0	2	3	4	0	2	5	7			TCGA-M7-A725-01A-12D-A32B-08	TCGA-M7-A725-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc15245-4b29-4381-929e-2e40cf170982	9b19febe-309d-4958-8102-f0fc7490dabb	g.chr2:200233398A>T	ENST00000417098.1	-	6	1446	c.630T>A	c.(628-630)taT>taA	p.Y210*	SATB2_ENST00000457245.1_Nonsense_Mutation_p.Y210*|SATB2_ENST00000443023.1_Nonsense_Mutation_p.Y151*|SATB2_ENST00000260926.5_Nonsense_Mutation_p.Y210*|SATB2_ENST00000428695.1_Intron|SATB2_ENST00000484124.1_5'UTR	NM_001172509.1	NP_001165980.1	Q9UPW6	SATB2_HUMAN	SATB homeobox 2	210					cartilage development (GO:0051216)|cellular response to organic substance (GO:0071310)|chromatin remodeling (GO:0006338)|embryonic pattern specification (GO:0009880)|embryonic skeletal system morphogenesis (GO:0048704)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|osteoblast development (GO:0002076)|palate development (GO:0060021)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|histone deacetylase complex (GO:0000118)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|sequence-specific DNA binding (GO:0043565)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(40)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						CATTGGCATAATATGTGCTAT	0.318																																					Colon(30;262 767 11040 24421 36230)	ENST00000443023.1																			0				breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(40)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						c.(451-453)taT>taA		SATB homeobox 2							97	93	95					2																	200233398		2203	4299	6502	SO:0001587	stop_gained	23314					cytoplasm|nuclear matrix	sequence-specific DNA binding transcription factor activity	g.chr2:200233398A>T	AB028957	CCDS2327.1	2q33.1	2011-06-20	2007-02-15		ENSG00000119042	ENSG00000119042		"Homeoboxes / CUT class"	21637	protein-coding gene	gene with protein product		608148	"SATB family member 2"				Standard	NM_015265		Approved	KIAA1034, FLJ21474	uc002uva.2	Q9UPW6	OTTHUMG00000132767	ENST00000417098.1:c.630T>A	2.37:g.200233398A>T	ENSP00000401112:p.Tyr210*					SATB2_ENST00000428695.1_Intron|SATB2_ENST00000260926.5_Nonsense_Mutation_p.Y210*|SATB2_ENST00000417098.1_Nonsense_Mutation_p.Y210*|SATB2_ENST00000484124.1_5'UTR|SATB2_ENST00000457245.1_Nonsense_Mutation_p.Y210*	p.Y151*			Q9UPW6	SATB2_HUMAN			5	1918	-			210					A8K5Z8|Q3ZB87|Q4V763	Nonsense_Mutation	SNP	ENST00000417098.1	37	c.453T>A	CCDS2327.1	.	.	.	.	.	.	.	.	.	.	A	38	7.201281	0.98132	.	.	ENSG00000119042	ENST00000417098;ENST00000443023;ENST00000260926;ENST00000457245	.	.	.	5.85	0.96	0.19631	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-12.0615	10.5876	0.45292	0.5073:0.0:0.4927:0.0	.	.	.	.	X	210;151;210;210	.	ENSP00000260926:Y210X	Y	-	3	2	SATB2	199941643	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	3.243000	0.51392	-0.057000	0.13199	0.402000	0.26972	TAT		0.318	SATB2-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256140.1	NM_015265		31	41	0	0	0	1	0	31	41					T	200233398	A	T	200233398	4	4	357	1	0	0	0	0	0	1	0	0	13854	108	4	5	1595	5	SATB2	2	200233398	Nonsense_Mutation	SNP	A	TCGA-M7-A725-01A-12D-A32B-08	20638775	200233398	42965975	8	17861											
ATR	545	broad.mit.edu	37	chr3	142231277	142231277	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtatttatggtatgctgatcGtcatgctttagaactgccat	9	16	9	7	1	1	2	1	1	0	1	2	2	1	2	1	1	4	4	1	1	5	6	rs112726878	byFrequency	TCGA-M7-A725-01A-12D-A32B-08	TCGA-M7-A725-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc15245-4b29-4381-929e-2e40cf170982	9b19febe-309d-4958-8102-f0fc7490dabb	g.chr3:142231277G>C	ENST00000350721.4	-	27	4798	c.4677C>G	c.(4675-4677)gaC>gaG	p.D1559E	ATR_ENST00000383101.3_Missense_Mutation_p.D1495E	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ATR serine/threonine kinase	1559					cell cycle (GO:0007049)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|cellular response to UV (GO:0034644)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|multicellular organismal development (GO:0007275)|negative regulation of DNA replication (GO:0008156)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|protein autophosphorylation (GO:0046777)|regulation of protein binding (GO:0043393)|replicative senescence (GO:0090399)|response to drug (GO:0042493)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|PML body (GO:0016605)|XY body (GO:0001741)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|MutLalpha complex binding (GO:0032405)|MutSalpha complex binding (GO:0032407)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						TATGCTGATCGTCATGCTTTA	0.343								Other conserved DNA damage response genes																														ENST00000350721.4																			0				NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						c.(4675-4677)gaC>gaG	Other conserved DNA damage response genes	ataxia telangiectasia and Rad3 related							156	133	141					3																	142231277		2203	4300	6503	SO:0001583	missense	545				cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence	PML body	ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity	g.chr3:142231277G>C	U76308	CCDS3124.1	3q23	2014-06-17	2014-06-17		ENSG00000175054	ENSG00000175054			882	protein-coding gene	gene with protein product	"MEC1, mitosis entry checkpoint 1, homolog (S. cerevisiae)"	601215	"ataxia telangiectasia and Rad3 related"			8978690, 8610130	Standard	NM_001184		Approved	FRP1, SCKL, SCKL1, MEC1	uc003eux.4	Q13535	OTTHUMG00000159234	ENST00000350721.4:c.4677C>G	3.37:g.142231277G>C	ENSP00000343741:p.Asp1559Glu					ATR_ENST00000383101.3_Missense_Mutation_p.D1495E	p.D1559E	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN			27	4798	-			1559					Q59HB2|Q7KYL3|Q93051|Q9BXK4	Missense_Mutation	SNP	ENST00000350721.4	37	c.4677C>G	CCDS3124.1	.	.	.	.	.	.	.	.	.	.	G	6.901	0.535758	0.13188	.	.	ENSG00000175054	ENST00000350721;ENST00000383101	T;T	0.20332	3.48;2.08	5.24	-1.61	0.08399	.	0.173029	0.51477	D	0.000097	T	0.09468	0.0233	L	0.27053	0.805	0.41612	D	0.988913	B	0.11235	0.004	B	0.10450	0.005	T	0.35624	-0.9781	10	0.06236	T	0.91	-19.9278	6.9481	0.24530	0.4302:0.0:0.4471:0.1227	.	1559	Q13535	ATR_HUMAN	E	1559;1495	ENSP00000343741:D1559E;ENSP00000372581:D1495E	ENSP00000343741:D1559E	D	-	3	2	ATR	143713967	0.885000	0.30320	0.999000	0.59377	0.963000	0.63663	0.069000	0.14552	0.010000	0.14839	-0.691000	0.03719	GAC		0.343	ATR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353995.2	NM_001184		28	51	0	0	0	1	0	28	51					C	142231277	G	C	142231277	3	2	357	1	0	0	0	0	1	0	0	0	1204	1136	40	5	3341	5	ATR	3	142231277	Missense_Mutation	SNP	G	TCGA-M7-A725-01A-12D-A32B-08		142231277	55791153	9	17862											
WDR49	151790	broad.mit.edu	37	chr3	167249006	167249006	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cggactcccgtggtagaatgGtctgccatggggtgggaggg	6	8	19	8	2	1	1	0	0	1	1	2	3	2	3	2	7	1	1	2	7	2	1			TCGA-M7-A725-01A-12D-A32B-08	TCGA-M7-A725-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc15245-4b29-4381-929e-2e40cf170982	9b19febe-309d-4958-8102-f0fc7490dabb	g.chr3:167249006G>C	ENST00000308378.3	-	9	1364	c.1059C>G	c.(1057-1059)gaC>gaG	p.D353E	WDR49_ENST00000479765.1_Intron|WDR49_ENST00000476376.1_Missense_Mutation_p.D178E|WDR49_ENST00000453925.2_Missense_Mutation_p.D417E	NM_178824.3	NP_849146.1	Q8IV35	WDR49_HUMAN	WD repeat domain 49	353										breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	50						TGGTAGAATGGTCTGCCATGG	0.438																																						ENST00000308378.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	50						c.(1057-1059)gaC>gaG		WD repeat domain 49							84	89	87					3																	167249006		2203	4300	6503	SO:0001583	missense	151790							g.chr3:167249006G>C	AK097556	CCDS3201.1	3q26.1	2013-01-11			ENSG00000174776	ENSG00000174776		"WD repeat domain containing"	26587	protein-coding gene	gene with protein product						12477932	Standard	NM_178824		Approved	FLJ33620	uc003fev.1	Q8IV35	OTTHUMG00000158290	ENST00000308378.3:c.1059C>G	3.37:g.167249006G>C	ENSP00000311343:p.Asp353Glu					WDR49_ENST00000453925.2_Missense_Mutation_p.D417E|WDR49_ENST00000476376.1_Missense_Mutation_p.D178E|WDR49_ENST00000479765.1_Intron	p.D353E	NM_178824.3	NP_849146.1	Q8IV35	WDR49_HUMAN			9	1364	-			353					Q8N297	Missense_Mutation	SNP	ENST00000308378.3	37	c.1059C>G	CCDS3201.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	2.817|2.817	-0.245747|-0.245747	0.05906|0.05906	.|.	.|.	ENSG00000174776|ENSG00000174776	ENST00000308378;ENST00000476376;ENST00000453925|ENST00000472600	T;T;T|.	0.53206|.	0.63;1.91;1.06|.	5.68|5.68	-4.84|-4.84	0.03151|0.03151	WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);|.	0.811986|.	0.11253|.	N|.	0.583404|.	T|T	0.23806|0.23806	0.0576|0.0576	L|L	0.43152|0.43152	1.355|1.355	0.09310|0.09310	N|N	1|1	B;B|.	0.02656|.	0.0;0.0|.	B;B|.	0.04013|.	0.0;0.001|.	T|T	0.34477|0.34477	-0.9827|-0.9827	10|5	0.13108|.	T|.	0.6|.	.|.	0.6201|0.6201	0.00776|0.00776	0.3271:0.2923:0.1652:0.2154|0.3271:0.2923:0.1652:0.2154	.|.	417;353|.	E7EQK3;Q8IV35|.	.;WDR49_HUMAN|.	E|S	353;178;417|429	ENSP00000311343:D353E;ENSP00000420508:D178E;ENSP00000410863:D417E|.	ENSP00000311343:D353E|.	D|T	-|-	3|2	2|0	WDR49|WDR49	168731700|168731700	0.006000|0.006000	0.16342|0.16342	0.004000|0.004000	0.12327|0.12327	0.007000|0.007000	0.05969|0.05969	-0.678000|-0.678000	0.05209|0.05209	-0.476000|-0.476000	0.06842|0.06842	0.650000|0.650000	0.86243|0.86243	GAC|ACC		0.438	WDR49-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000350592.3	NM_178824		4	76	0	0	0	1	0	4	76					C	167249006	G	C	167249006	3	2	357	1	0	0	0	0	1	0	0	0	17299	1252	44	5	1062	5	WDR49	3	167249006	Missense_Mutation	SNP	G	TCGA-M7-A725-01A-12D-A32B-08	25017729	167249006	30773424	10	17863											
PROM1	8842	broad.mit.edu	37	chr4	16019994	16019994	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tggcttagagacaatctgatGctgttgcaggtttcacttga	9	14	11	7	0	2	3	1	2	1	1	2	4	2	3	0	2	2	5	0	2	2	4			TCGA-M7-A725-01A-12D-A32B-08	TCGA-M7-A725-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc15245-4b29-4381-929e-2e40cf170982	9b19febe-309d-4958-8102-f0fc7490dabb	g.chr4:16019994G>A	ENST00000510224.1	-	9	1202	c.954C>T	c.(952-954)agC>agT	p.S318S	PROM1_ENST00000508167.1_Silent_p.S309S|PROM1_ENST00000502943.1_5'UTR|PROM1_ENST00000543373.1_Silent_p.S309S|PROM1_ENST00000505450.1_Silent_p.S309S|PROM1_ENST00000447510.2_Silent_p.S318S|PROM1_ENST00000539194.1_Silent_p.S318S|PROM1_ENST00000540805.1_Silent_p.S318S			O43490	PROM1_HUMAN	prominin 1	318					camera-type eye photoreceptor cell differentiation (GO:0060219)|glomerular parietal epithelial cell differentiation (GO:0072139)|glomerular visceral epithelial cell differentiation (GO:0072112)|photoreceptor cell maintenance (GO:0045494)|positive regulation of nephron tubule epithelial cell differentiation (GO:2000768)|retina layer formation (GO:0010842)|retina morphogenesis in camera-type eye (GO:0060042)	apical plasma membrane (GO:0016324)|brush border (GO:0005903)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|photoreceptor outer segment (GO:0001750)|photoreceptor outer segment membrane (GO:0042622)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|vesicle (GO:0031982)	actinin binding (GO:0042805)|cadherin binding (GO:0045296)			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|liver(1)|lung(11)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(2)	35						ACAATCTGATGCTGTTGCAGG	0.537																																						ENST00000505450.1																			0				breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|liver(1)|lung(11)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(2)	35						c.(925-927)agC>agT		prominin 1							112	106	108					4																	16019994		2074	4227	6301	SO:0001819	synonymous_variant	8842				camera-type eye photoreceptor cell differentiation|photoreceptor cell maintenance|retina layer formation	apical plasma membrane|cell surface|integral to plasma membrane|microvillus membrane|photoreceptor outer segment membrane|plasma membrane	beta-actinin binding|cadherin binding	g.chr4:16019994G>A	AF027208	CCDS47029.1, CCDS54746.1, CCDS54747.1, CCDS54748.1	4p15	2013-06-06	2001-11-28	2003-03-28	ENSG00000007062	ENSG00000007062		"CD molecules"	9454	protein-coding gene	gene with protein product		604365	"prominin (mouse)-like 1", "macular dystrophy, retinal 2", "Stargardt disease 4 (autosomal dominant)"	PROML1, MCDR2, STGD4		11467842	Standard	NM_006017		Approved	AC133, CD133, RP41, CORD12	uc003goo.2	O43490	OTTHUMG00000160180	ENST00000510224.1:c.954C>T	4.37:g.16019994G>A						PROM1_ENST00000502943.1_5'UTR|PROM1_ENST00000510224.1_Silent_p.S318S|PROM1_ENST00000447510.2_Silent_p.S318S|PROM1_ENST00000540805.1_Silent_p.S318S|PROM1_ENST00000539194.1_Silent_p.S318S|PROM1_ENST00000543373.1_Silent_p.S309S|PROM1_ENST00000508167.1_Silent_p.S309S	p.S309S	NM_001145848.1	NP_001139320.1	O43490	PROM1_HUMAN			8	1539	-			318					Q6SV49|Q6SV50|Q6SV51|Q6SV52|Q6SV53|Q96EN6	Silent	SNP	ENST00000510224.1	37	c.927C>T	CCDS47029.1																																																																																				0.537	PROM1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000359595.2	NM_006017		17	29	0	0	0	1	0	17	29					A	16019994	G	A	16019994	2	1	357	1	0	0	0	0	0	0	0	1	12555	1310	46	3		3	PROM1	4	16019994	Silent	SNP	G	TCGA-M7-A725-01A-12D-A32B-08		16019994	175134282	11	17864											
IRF4	3662	broad.mit.edu	37	chr6	397164	397164	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agctggagggactacgtcccGgatcagccacacccggaaat	11	5	12	13	3	1	0	1	0	0	0	2	4	2	4	3	4	3	1	3	4	2	1	rs200431511		TCGA-M7-A725-01A-12D-A32B-08	TCGA-M7-A725-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc15245-4b29-4381-929e-2e40cf170982	9b19febe-309d-4958-8102-f0fc7490dabb	g.chr6:397164G>A	ENST00000380956.4	+	5	675	c.549G>A	c.(547-549)ccG>ccA	p.P183P	IRF4_ENST00000495137.1_3'UTR	NM_001195286.1|NM_002460.3	NP_001182215.1|NP_002451.2	Q15306	IRF4_HUMAN	interferon regulatory factor 4	183					cytokine-mediated signaling pathway (GO:0019221)|defense response to protozoan (GO:0042832)|histone H3 acetylation (GO:0043966)|histone H4 acetylation (GO:0043967)|interferon-gamma-mediated signaling pathway (GO:0060333)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|positive regulation of DNA binding (GO:0043388)|positive regulation of interleukin-10 biosynthetic process (GO:0045082)|positive regulation of interleukin-13 biosynthetic process (GO:0045368)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of interleukin-4 biosynthetic process (GO:0045404)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of T-helper cell differentiation (GO:0045622)|T cell activation (GO:0042110)|T-helper 17 cell lineage commitment (GO:0072540)|transcription, DNA-templated (GO:0006351)|type I interferon signaling pathway (GO:0060337)	cytosol (GO:0005829)|membrane (GO:0016020)|nuclear nucleosome (GO:0000788)|nucleus (GO:0005634)	protein-lysine N-methyltransferase activity (GO:0016279)|regulatory region DNA binding (GO:0000975)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)	5		Breast(5;0.0155)|all_lung(73;0.0691)|all_hematologic(90;0.0895)		OV - Ovarian serous cystadenocarcinoma(45;0.03)|BRCA - Breast invasive adenocarcinoma(62;0.0702)		ACTACGTCCCGGATCAGCCAC	0.562			T	IGH@	MM																																	ENST00000380956.4				Dom	yes		6	6p25-p23	3662	T	interferon regulatory factor 4			L	IGH@		MM		0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)	5						c.(547-549)ccG>ccA		interferon regulatory factor 4		G	,	1,4405	2.1+/-5.4	0,1,2202	108	113	111		546,549	-11	0.3	6		111	3,8597	3.0+/-9.4	0,3,4297	no	coding-synonymous,coding-synonymous	IRF4	NM_001195286.1,NM_002460.3	,	0,4,6499	AA,AG,GG		0.0349,0.0227,0.0308	,	182/451,183/452	397164	4,13002	2203	4300	6503	SO:0001819	synonymous_variant	3662				interferon-gamma-mediated signaling pathway|positive regulation of interleukin-10 biosynthetic process|positive regulation of interleukin-13 biosynthetic process|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-4 biosynthetic process|positive regulation of transcription, DNA-dependent|regulation of T-helper cell differentiation|T cell activation|type I interferon-mediated signaling pathway	cytoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding	g.chr6:397164G>A	U52682	CCDS4469.1	6p25-p23	2008-08-29			ENSG00000137265	ENSG00000137265			6119	protein-coding gene	gene with protein product		601900		MUM1		8921401, 18417578	Standard	NM_002460		Approved	LSIRF	uc003msz.4	Q15306	OTTHUMG00000016294	ENST00000380956.4:c.549G>A	6.37:g.397164G>A						IRF4_ENST00000495137.1_3'UTR	p.P183P	NM_001195286.1|NM_002460.3	NP_001182215.1|NP_002451.2	Q15306	IRF4_HUMAN		OV - Ovarian serous cystadenocarcinoma(45;0.03)|BRCA - Breast invasive adenocarcinoma(62;0.0702)	5	675	+		Breast(5;0.0155)|all_lung(73;0.0691)|all_hematologic(90;0.0895)	183					Q5VUI7|Q99660	Silent	SNP	ENST00000380956.4	37	c.549G>A	CCDS4469.1																																																																																				0.562	IRF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043638.1			50	60	0	0	0	1	0	50	60					A	397164	G	A	397164	2	1	357	1	0	0	0	0	0	0	0	1	7832	1103	39	2		2	IRF4	6	397164	Silent	SNP	G	TCGA-M7-A725-01A-12D-A32B-08		397164	170717903	12	17865											
PRSS16	10279	broad.mit.edu	37	chr6	27218485	27218485	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctgatgtggtctctgcccGcctggcactttcccgcctct	2	12	11	16	2	2	1	0	1	2	0	4	1	3	1	4	3	1	2	4	3	0	1	rs372674948		TCGA-M7-A725-01A-12D-A32B-08	TCGA-M7-A725-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc15245-4b29-4381-929e-2e40cf170982	9b19febe-309d-4958-8102-f0fc7490dabb	g.chr6:27218485G>A	ENST00000230582.3	+	5	506	c.491G>A	c.(490-492)cGc>cAc	p.R164H	PRSS16_ENST00000421826.2_Intron	NM_005865.3	NP_005856.1	Q9NQE7	TSSP_HUMAN	protease, serine, 16 (thymus)	164					protein catabolic process (GO:0030163)	cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|lysosome (GO:0005764)	serine-type peptidase activity (GO:0008236)			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	26						GTCTCTGCCCGCCTGGCACTT	0.632																																					NSCLC(178;1118 2105 17078 23587 44429)	ENST00000230582.3																			0				central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	26						c.(490-492)cGc>cAc		protease, serine, 16 (thymus)		A	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	57	50	53		491	0.3	0.7	6		53	0,8600		0,0,4300	no	missense	PRSS16	NM_005865.3	29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	164/515	27218485	1,13005	2203	4300	6503	SO:0001583	missense	10279				protein catabolic process|proteolysis	cytoplasmic membrane-bounded vesicle	serine-type peptidase activity	g.chr6:27218485G>A	AF052514	CCDS4623.1	6p21	2010-05-07			ENSG00000112812	ENSG00000112812		"Serine peptidases / Serine peptidases"	9480	protein-coding gene	gene with protein product		607169				10527559	Standard	NM_005865		Approved	TSSP	uc003nja.3	Q9NQE7	OTTHUMG00000016167	ENST00000230582.3:c.491G>A	6.37:g.27218485G>A	ENSP00000230582:p.Arg164His					PRSS16_ENST00000421826.2_Intron	p.R164H	NM_005865.3	NP_005856.1	Q9NQE7	TSSP_HUMAN			5	506	+			164					O75416	Missense_Mutation	SNP	ENST00000230582.3	37	c.491G>A	CCDS4623.1	.	.	.	.	.	.	.	.	.	.	g	8.332	0.826680	0.16749	2.27E-4	0.0	ENSG00000112812	ENST00000230582;ENST00000343467	T	0.22336	1.96	4.4	0.323	0.15893	.	0.207947	0.51477	N	0.000088	T	0.04815	0.0130	L	0.32530	0.975	0.21416	N	0.999695	B;B;B	0.19200	0.001;0.0;0.034	B;B;B	0.15052	0.001;0.001;0.012	T	0.36261	-0.9755	10	0.45353	T	0.12	-8.3774	7.532	0.27689	0.5555:0.0:0.4445:0.0	.	55;164;164	Q7Z5N6;C9JI59;Q9NQE7	.;.;TSSP_HUMAN	H	164	ENSP00000230582:R164H	ENSP00000230582:R164H	R	+	2	0	PRSS16	27326464	0.240000	0.23847	0.738000	0.30950	0.285000	0.27093	0.712000	0.25779	-0.051000	0.13334	-0.964000	0.02622	CGC		0.632	PRSS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043418.2			3	42	0	0	0	1	0	3	42					A	27218485	G	A	27218485	3	1	357	1	0	0	0	0	1	0	0	0	12616	1087	38	1	509	1	PRSS16	6	27218485	Missense_Mutation	SNP	G	TCGA-M7-A725-01A-12D-A32B-08	26821321	27218485	143896582	13	17866											
ITPR3	3710	broad.mit.edu	37	chr6	33638125	33638125	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccagctgaagctctttgcccGcatgtgcttggaccgccagt	6	10	11	14	2	1	1	0	1	1	0	1	2	1	2	4	1	4	4	4	1	1	2			TCGA-M7-A725-01A-12D-A32B-08	TCGA-M7-A725-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc15245-4b29-4381-929e-2e40cf170982	9b19febe-309d-4958-8102-f0fc7490dabb	g.chr6:33638125G>A	ENST00000374316.5	+	20	3273	c.2213G>A	c.(2212-2214)cGc>cAc	p.R738H	ITPR3_ENST00000605930.1_Missense_Mutation_p.R738H			Q14573	ITPR3_HUMAN	inositol 1,4,5-trisphosphate receptor, type 3	738					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|calcium ion transport into cytosol (GO:0060402)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|long-term synaptic potentiation (GO:0060291)|memory (GO:0007613)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|response to calcium ion (GO:0051592)|sensory perception of bitter taste (GO:0050913)|sensory perception of sweet taste (GO:0050916)|sensory perception of umami taste (GO:0050917)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	apical part of cell (GO:0045177)|brush border (GO:0005903)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|myelin sheath (GO:0043209)|neuronal cell body (GO:0043025)|nuclear outer membrane (GO:0005640)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|receptor complex (GO:0043235)	inositol 1,3,4,5 tetrakisphosphate binding (GO:0043533)|inositol 1,4,5 trisphosphate binding (GO:0070679)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|inositol hexakisphosphate binding (GO:0000822)|intracellular ligand-gated calcium channel activity (GO:0005218)|phosphatidylinositol binding (GO:0035091)			NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85					Caffeine(DB00201)	CTCTTTGCCCGCATGTGCTTG	0.607																																						ENST00000374316.5																			0				NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85						c.(2212-2214)cGc>cAc		inositol 1,4,5-trisphosphate receptor, type 3							92	86	88					6																	33638125		2203	4300	6503	SO:0001583	missense	3710				activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion	apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane	inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding	g.chr6:33638125G>A	D26351	CCDS4783.1	6p21.31	2011-11-24	2011-04-28		ENSG00000096433	ENSG00000096433		"Ion channels / Inositol triphosphate receptors"	6182	protein-coding gene	gene with protein product		147267	"inositol 1,4,5-triphosphate receptor, type 3"			8081734, 8288584	Standard	NM_002224		Approved	IP3R3	uc021ywr.1	Q14573	OTTHUMG00000014532	ENST00000374316.5:c.2213G>A	6.37:g.33638125G>A	ENSP00000363435:p.Arg738His					ITPR3_ENST00000605930.1_Missense_Mutation_p.R738H	p.R738H			Q14573	ITPR3_HUMAN			20	3273	+			738					Q14649|Q5TAQ2	Missense_Mutation	SNP	ENST00000374316.5	37	c.2213G>A	CCDS4783.1	.	.	.	.	.	.	.	.	.	.	G	33	5.225756	0.95173	.	.	ENSG00000096433	ENST00000374316	D	0.91843	-2.92	4.81	4.81	0.61882	.	0.000000	0.85682	D	0.000000	D	0.92971	0.7763	L	0.43152	1.355	0.80722	D	1	D	0.76494	0.999	D	0.66847	0.947	D	0.93363	0.6728	10	0.52906	T	0.07	-25.4105	17.8678	0.88801	0.0:0.0:1.0:0.0	.	738	Q14573	ITPR3_HUMAN	H	738	ENSP00000363435:R738H	ENSP00000363435:R738H	R	+	2	0	ITPR3	33746103	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.748000	0.98867	2.209000	0.71365	0.563000	0.77884	CGC		0.607	ITPR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040204.2	NM_002224		3	58	0	0	0	1	0	3	58					A	33638125	G	A	33638125	3	1	357	1	0	0	0	0	1	0	0	0	7922	1087	38	1	2287	1	ITPR3	6	33638125	Missense_Mutation	SNP	G	TCGA-M7-A725-01A-12D-A32B-08	6419640	33638125	137476942	14	17867											
PKHD1L1	93035	broad.mit.edu	37	chr8	110393743	110393743	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcaaattacatgctatactaGgtctgttttaaagtatcttt	12	18	5	6	0	3	0	1	0	2	0	3	0	3	0	0	1	3	3	0	1	8	8	rs368264006		TCGA-M7-A725-01A-12D-A32B-08	TCGA-M7-A725-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc15245-4b29-4381-929e-2e40cf170982	9b19febe-309d-4958-8102-f0fc7490dabb	g.chr8:110393743G>A	ENST00000378402.5	+	3	412	c.308G>A	c.(307-309)aGa>aAa	p.R103K		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	103	IPT/TIG 1.				immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			TGCTATACTAGGTCTGTTTTA	0.279										HNSCC(38;0.096)																												ENST00000378402.5																			0				NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263						c.e3+1		polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1							36	35	36					8																	110393743		1798	4054	5852	SO:0001630	splice_region_variant	93035				immune response	cytosol|extracellular space|integral to membrane	receptor activity	g.chr8:110393743G>A	AY219181	CCDS47911.1	8q23	2003-03-28			ENSG00000205038	ENSG00000205038			20313	protein-coding gene	gene with protein product		607843				12620974	Standard	NM_177531		Approved		uc003yne.3	Q86WI1	OTTHUMG00000164934	ENST00000378402.5:c.308+1G>A	8.37:g.110393743G>A		HNSCC(38;0.096)					p.R103_splice	NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)		3	412	+			103			IPT/TIG 1.		Q567P2|Q9UF27	Splice_Site	SNP	ENST00000378402.5	37	c.308_splice	CCDS47911.1	.	.	.	.	.	.	.	.	.	.	G	28.8	4.948854	0.92660	.	.	ENSG00000205038	ENST00000378402	T	0.76186	-1.0	6.16	6.16	0.99307	Cell surface receptor IPT/TIG (2);Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.86506	0.5949	M	0.80847	2.515	0.46149	D	0.998894	D	0.67145	0.996	D	0.65684	0.937	D	0.85943	0.1459	10	0.51188	T	0.08	.	18.3537	0.90348	0.0:0.0:1.0:0.0	.	103	Q86WI1	PKHL1_HUMAN	K	103	ENSP00000367655:R103K	ENSP00000367655:R103K	R	+	2	0	PKHD1L1	110462919	1.000000	0.71417	1.000000	0.80357	0.921000	0.55340	6.746000	0.74866	2.937000	0.99478	0.650000	0.86243	AGA		0.279	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381017.1	NM_177531	Missense_Mutation	10	1	0	0	0	1	0	10	1					A	110393743	G	A	110393743	5	1	357	1	0	0	0	0	0	0	1	0	11972	1014	35	3	318	3	PKHD1L1	8	110393743	Splice_Site	SNP	G	TCGA-M7-A725-01A-12D-A32B-08		110393743	35970279	15	17868											
CSMD3	114788	broad.mit.edu	37	chr8	113358324	113358324	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cacgtgtttttaatacacatAccaaaacctatgggtagatt	14	13	6	8	1	0	1	0	0	0	1	0	1	0	1	2	1	3	2	2	1	7	8			TCGA-M7-A725-01A-12D-A32B-08	TCGA-M7-A725-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc15245-4b29-4381-929e-2e40cf170982	9b19febe-309d-4958-8102-f0fc7490dabb	g.chr8:113358324A>G	ENST00000297405.5	-	41	6687		c.e41+1		CSMD3_ENST00000455883.2_Splice_Site|CSMD3_ENST00000343508.3_Splice_Site|CSMD3_ENST00000352409.3_Splice_Site	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3							integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TAATACACATACCAAAACCTA	0.333										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												ENST00000297405.5																			0				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						c.e41+1		CUB and Sushi multiple domains 3							94	99	97					8																	113358324		2203	4300	6503	SO:0001630	splice_region_variant	114788					integral to membrane|plasma membrane		g.chr8:113358324A>G	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.6442+1T>C	8.37:g.113358324A>G		HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_ENST00000352409.3_Splice_Site|CSMD3_ENST00000455883.2_Splice_Site|CSMD3_ENST00000343508.3_Splice_Site		NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN			41	6687	-								Q96PZ3	Splice_Site	SNP	ENST00000297405.5	37		CCDS6315.1	.	.	.	.	.	.	.	.	.	.	A	23.2	4.385420	0.82792	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	.	.	.	5.39	5.39	0.77823	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.5781	0.76408	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CSMD3	113427500	1.000000	0.71417	1.000000	0.80357	0.853000	0.48598	9.097000	0.94193	2.260000	0.74910	0.528000	0.53228	.		0.333	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900	Intron	27	102	0	0	0	1	0	27	102					G	113358324	A	G	113358324	5	3	357	1	0	0	0	0	0	0	1	0	3946	405	14	4	4803	4	CSMD3	8	113358324	Splice_Site	SNP	A	TCGA-M7-A725-01A-12D-A32B-08	2964581	113358324	33005698	16	17869											
TAF2	6873	broad.mit.edu	37	chr8	120756627	120756627	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcctcctcatcttgagaacTggaaaactaaaacacacaca	16	8	4	13	0	2	1	1	1	1	1	4	3	4	2	2	1	3	0	2	1	5	2			TCGA-M7-A725-01A-12D-A32B-08	TCGA-M7-A725-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc15245-4b29-4381-929e-2e40cf170982	9b19febe-309d-4958-8102-f0fc7490dabb	g.chr8:120756627T>C	ENST00000378164.2	-	24	3413	c.3115A>G	c.(3115-3117)Agt>Ggt	p.S1039G	TAF2_ENST00000519355.1_5'Flank	NM_003184.3	NP_003175	Q6P1X5	TAF2_HUMAN	TAF2 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 150kDa	1039					G2/M transition of mitotic cell cycle (GO:0000086)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to organic cyclic compound (GO:0014070)|transcription initiation from RNA polymerase II promoter (GO:0006367)	transcription factor TFIID complex (GO:0005669)|transcription factor TFTC complex (GO:0033276)	metallopeptidase activity (GO:0008237)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			NS(2)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(21)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	49	Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			TCTTGAGAACTGGAAAACTAA	0.393																																						ENST00000378164.2																			0				NS(2)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(21)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	49						c.(3115-3117)Agt>Ggt		TAF2 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 150kDa							122	121	121					8																	120756627		2203	4300	6503	SO:0001583	missense	6873				G2/M transition of mitotic cell cycle|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	transcription factor TFIID complex|transcription factor TFTC complex	metallopeptidase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding	g.chr8:120756627T>C	AF040701	CCDS34937.1	8q24	2012-07-18	2002-08-29	2001-12-07	ENSG00000064313	ENSG00000064313			11536	protein-coding gene	gene with protein product		604912	"TATA box binding protein (TBP)-associated factor, RNA polymerase II, B, 150kD"	TAF2B		9774672, 9418870	Standard	NM_003184		Approved	TAFII150, CIF150	uc003you.3	Q6P1X5	OTTHUMG00000165009	ENST00000378164.2:c.3115A>G	8.37:g.120756627T>C	ENSP00000367406:p.Ser1039Gly						p.S1039G	NM_003184.3	NP_003175.1	Q6P1X5	TAF2_HUMAN	STAD - Stomach adenocarcinoma(47;0.00185)		24	3413	-	Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161)		1039					B2RE82|O43487|O43604|O60668|Q86WW7|Q8IWK4	Missense_Mutation	SNP	ENST00000378164.2	37	c.3115A>G	CCDS34937.1	.	.	.	.	.	.	.	.	.	.	T	15.43	2.831226	0.50845	.	.	ENSG00000064313	ENST00000378164;ENST00000529653	T;T	0.33865	2.5;1.39	5.49	5.49	0.81192	.	0.300596	0.40640	N	0.001051	T	0.24392	0.0591	N	0.14661	0.345	0.36525	D	0.870406	B	0.06786	0.001	B	0.04013	0.001	T	0.12915	-1.0529	10	0.30854	T	0.27	-6.9258	15.6034	0.76642	0.0:0.0:0.0:1.0	.	1039	Q6P1X5	TAF2_HUMAN	G	1039;215	ENSP00000367406:S1039G;ENSP00000436750:S215G	ENSP00000367406:S1039G	S	-	1	0	TAF2	120825808	1.000000	0.71417	0.974000	0.42286	0.769000	0.43574	5.960000	0.70348	2.096000	0.63516	0.383000	0.25322	AGT		0.393	TAF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381436.1	NM_003184		5	193	0	0	0	1	0	5	193					C	120756627	T	C	120756627	3	2	357	1	0	0	0	0	1	0	0	0	15521	1580	55	4	496	4	TAF2	8	120756627	Missense_Mutation	SNP	T	TCGA-M7-A725-01A-12D-A32B-08	7398303	120756627	25607395	17	17870											
ZNF572	137209	broad.mit.edu	37	chr8	125989773	125989773	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tctgagtgctggaaaactttCagtcagagttccaccctggt	9	12	10	10	0	3	2	2	1	1	1	4	3	4	3	2	2	2	2	2	2	2	2			TCGA-M7-A725-01A-12D-A32B-08	TCGA-M7-A725-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc15245-4b29-4381-929e-2e40cf170982	9b19febe-309d-4958-8102-f0fc7490dabb	g.chr8:125989773C>T	ENST00000319286.5	+	3	1417	c.1263C>T	c.(1261-1263)ttC>ttT	p.F421F		NM_152412.2	NP_689625.2	Q7Z3I7	ZN572_HUMAN	zinc finger protein 572	421					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)	31	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)			GGAAAACTTTCAGTCAGAGTT	0.428										HNSCC(60;0.17)																												ENST00000319286.5																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)	31						c.(1261-1263)ttC>ttT		zinc finger protein 572							75	75	75					8																	125989773		2203	4300	6503	SO:0001819	synonymous_variant	137209				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr8:125989773C>T	BX537876	CCDS6354.1	8q24.13	2013-09-20			ENSG00000180938	ENSG00000180938		"Zinc fingers, C2H2-type"	26758	protein-coding gene	gene with protein product							Standard	NM_152412		Approved	FLJ38002	uc003yrr.3	Q7Z3I7	OTTHUMG00000164988	ENST00000319286.5:c.1263C>T	8.37:g.125989773C>T		HNSCC(60;0.17)					p.F421F	NM_152412.2	NP_689625.2	Q7Z3I7	ZN572_HUMAN	STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)		3	1417	+	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		421					A1L4F1|Q8N1Q0	Silent	SNP	ENST00000319286.5	37	c.1263C>T	CCDS6354.1																																																																																				0.428	ZNF572-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381359.1	NM_152412		38	107	0	0	0	1	0	38	107					T	125989773	C	T	125989773	2	4	357	1	0	0	0	0	0	0	0	1	18001	825	29	3		3	ZNF572	8	125989773	Silent	SNP	C	TCGA-M7-A725-01A-12D-A32B-08	5233146	125989773	20374249	18	17871											
TAF1L	138474	broad.mit.edu	37	chr9	32634331	32634333	+	In_Frame_Del	DEL	AGA	AGA	-																															tcaggaagttttcgtcagccAgaagatcagtgccattgctt																										TCGA-M7-A725-01A-12D-A32B-08	TCGA-M7-A725-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc15245-4b29-4381-929e-2e40cf170982	9b19febe-309d-4958-8102-f0fc7490dabb	g.chr9:32634331_32634333delAGA	ENST00000242310.4	-	1	1334_1336	c.1245_1247delTCT	c.(1243-1248)cttctg>ctg	p.415_416LL>L	RP11-555J4.4_ENST00000430787.1_RNA	NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	415					DNA-templated transcription, initiation (GO:0006352)|histone acetylation (GO:0016573)|male meiosis (GO:0007140)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	transcription factor TFIID complex (GO:0005669)	DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine-acetylated histone binding (GO:0070577)|protein serine/threonine kinase activity (GO:0004674)|TBP-class protein binding (GO:0017025)			breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		TTCGTCAGCCAGAAGATCAGTGC	0.433																																						ENST00000242310.4																			0				breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159						c.(1243-1248)ctg>ct		TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like																																				SO:0001651	inframe_deletion	138474				male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding	g.chr9:32634331_32634333delAGA	AF390562	CCDS35003.1	9p12	2007-07-27	2007-07-27		ENSG00000122728	ENSG00000122728			18056	protein-coding gene	gene with protein product		607798	"TAF1-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa"			12217962	Standard	NM_153809		Approved		uc003zrg.1	Q8IZX4	OTTHUMG00000019747	ENST00000242310.4:c.1245_1247delTCT	9.37:g.32634334_32634336delAGA	ENSP00000418379:p.Leu416del					RP11-555J4.4_ENST00000430787.1_RNA	p.LL415del	NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)	1	1334_1336	-			415					Q0VG57	In_Frame_Del	DEL	ENST00000242310.4	37	c.1245_1247delTCT	CCDS35003.1																																																																																				0.433	TAF1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052012.2			7	316						7	316	---	---	---	---	-	32634333	AGA	-	32634331	7	5	357	1	0	1	0	1	0	0	0	0	15520	188	7	0	4237	0	TAF1L	9	32634331	In_Frame_Del	DEL	AGA	TCGA-M7-A725-01A-12D-A32B-08		32634331	108579100	19	17872											
NTNG2	84628	broad.mit.edu	37	chr9	135102298	135102298	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggcagcctgcagtgcgagtGcgagcacaacaccaccggcc	9	3	14	15	3	0	0	0	0	0	0	0	2	0	0	4	2	6	3	4	2	1	0			TCGA-M7-A725-01A-12D-A32B-08	TCGA-M7-A725-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc15245-4b29-4381-929e-2e40cf170982	9b19febe-309d-4958-8102-f0fc7490dabb	g.chr9:135102298G>T	ENST00000393229.3	+	4	1696	c.920G>T	c.(919-921)tGc>tTc	p.C307F	NTNG2_ENST00000360670.3_Missense_Mutation_p.C307F|NTNG2_ENST00000372179.3_Missense_Mutation_p.C307F|NTNG2_ENST00000393228.4_Missense_Mutation_p.C307F	NM_032536.2	NP_115925.2	Q96CW9	NTNG2_HUMAN	netrin G2	307	Laminin EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00460}.				axonogenesis (GO:0007409)	anchored component of plasma membrane (GO:0046658)|axon (GO:0030424)				central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	29				OV - Ovarian serous cystadenocarcinoma(145;1.23e-05)|Epithelial(140;0.000173)		CAGTGCGAGTGCGAGCACAAC	0.657																																						ENST00000393229.3																			0				central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	29						c.(919-921)tGc>tTc		netrin G2							46	40	42					9																	135102298		2203	4299	6502	SO:0001583	missense	84628				axonogenesis	anchored to plasma membrane		g.chr9:135102298G>T	AB058760	CCDS6946.1	9q34	2013-03-01	2003-12-02	2003-12-03	ENSG00000196358	ENSG00000196358		"Netrins"	14288	protein-coding gene	gene with protein product	"Netrin-G2"		"netrin G1"	NTNG1			Standard	NM_032536		Approved	KIAA1857, Lmnt2	uc004cbh.2	Q96CW9	OTTHUMG00000020835	ENST00000393229.3:c.920G>T	9.37:g.135102298G>T	ENSP00000376921:p.Cys307Phe					NTNG2_ENST00000372179.3_Missense_Mutation_p.C307F|NTNG2_ENST00000360670.3_Missense_Mutation_p.C307F|NTNG2_ENST00000393228.4_Missense_Mutation_p.C307F	p.C307F	NM_032536.2	NP_115925.2	Q96CW9	NTNG2_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.23e-05)|Epithelial(140;0.000173)	4	1696	+			307			Laminin EGF-like 1.		Q5JUJ2|Q6UXY0|Q96JH0	Missense_Mutation	SNP	ENST00000393229.3	37	c.920G>T	CCDS6946.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.235269	0.79800	.	.	ENSG00000196358	ENST00000393229;ENST00000393228;ENST00000360670;ENST00000372179	D;D;D;D	0.95171	-3.63;-3.63;-3.63;-3.63	4.86	4.86	0.63082	EGF-like, laminin (3);EGF-like region, conserved site (1);	0.126140	0.53938	D	0.000048	D	0.98264	0.9425	H	0.98256	4.185	0.80722	D	1	D	0.69078	0.997	D	0.65233	0.933	D	0.99847	1.1067	10	0.87932	D	0	.	16.9626	0.86277	0.0:0.0:1.0:0.0	.	307	Q96CW9	NTNG2_HUMAN	F	307	ENSP00000376921:C307F;ENSP00000376920:C307F;ENSP00000353888:C307F;ENSP00000361252:C307F	ENSP00000353888:C307F	C	+	2	0	NTNG2	134092119	1.000000	0.71417	1.000000	0.80357	0.728000	0.41692	9.471000	0.97696	2.242000	0.73789	0.313000	0.20887	TGC		0.657	NTNG2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054779.1	NM_032536		5	10	1	0	0.00198382	1	0.00202694	5	10					T	135102298	G	T	135102298	3	4	357	1	0	0	0	0	1	0	0	0	10705	1319	46	5	930	5	NTNG2	9	135102298	Missense_Mutation	SNP	G	TCGA-M7-A725-01A-12D-A32B-08	102467967	135102298	6111133	20	17873											
ADAMTS13	11093	broad.mit.edu	37	chr9	136323143	136323143	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cattaatgtggctccgcacgCacggattgccatccatgccc	8	9	9	15	3	0	0	0	0	0	0	2	1	2	1	4	2	2	3	4	2	1	2			TCGA-M7-A725-01A-12D-A32B-08	TCGA-M7-A725-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc15245-4b29-4381-929e-2e40cf170982	9b19febe-309d-4958-8102-f0fc7490dabb	g.chr9:136323143C>T	ENST00000371929.3	+	28	4448	c.4004C>T	c.(4003-4005)gCa>gTa	p.A1335V	CACFD1_ENST00000542192.1_5'Flank|ADAMTS13_ENST00000371910.1_Missense_Mutation_p.A131V|CACFD1_ENST00000540581.1_5'Flank|CACFD1_ENST00000291722.7_5'Flank|ADAMTS13_ENST00000485925.1_Intron|ADAMTS13_ENST00000371916.1_3'UTR|CACFD1_ENST00000316948.4_5'Flank|ADAMTS13_ENST00000356589.2_Missense_Mutation_p.A1248V|ADAMTS13_ENST00000355699.2_Missense_Mutation_p.A1279V	NM_139025.3|NM_139027.3	NP_620594.1|NP_620596.2	Q76LX8	ATS13_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 13	1335	CUB 2.				cell-matrix adhesion (GO:0007160)|glycoprotein metabolic process (GO:0009100)|integrin-mediated signaling pathway (GO:0007229)|peptide catabolic process (GO:0043171)|platelet activation (GO:0030168)|protein processing (GO:0016485)|proteolysis (GO:0006508)|response to interferon-gamma (GO:0034341)|response to interleukin-4 (GO:0070670)|response to tumor necrosis factor (GO:0034612)	cell surface (GO:0009986)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.A1335G(1)		central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(4)	36				OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05)		GCTCCGCACGCACGGATTGCC	0.622																																						ENST00000371929.3																			1	Substitution - Missense(1)	p.A1335G(1)	lung(1)	central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(4)	36						c.(4003-4005)gCa>gTa		ADAM metallopeptidase with thrombospondin type 1 motif, 13							54	53	53					9																	136323143		2203	4299	6502	SO:0001583	missense	11093				cell-matrix adhesion|glycoprotein metabolic process|integrin-mediated signaling pathway|peptide catabolic process|platelet activation|protein processing|proteolysis	cell surface|proteinaceous extracellular matrix	calcium ion binding|integrin binding|metalloendopeptidase activity|zinc ion binding	g.chr9:136323143C>T	AJ011374	CCDS6970.1, CCDS6971.1, CCDS6972.1	9q34	2008-07-21	2005-08-19	2001-09-21	ENSG00000160323	ENSG00000160323		"ADAM metallopeptidases with thrombospondin type 1 motif"	1366	protein-coding gene	gene with protein product		604134	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 13"	C9orf8		11557746, 11535495	Standard	NM_139025		Approved	VWFCP, TTP, vWF-CP, FLJ42993, MGC118899, MGC118900, DKFZp434C2322	uc004cdv.4	Q76LX8	OTTHUMG00000020876	ENST00000371929.3:c.4004C>T	9.37:g.136323143C>T	ENSP00000360997:p.Ala1335Val					ADAMTS13_ENST00000485925.1_Intron|ADAMTS13_ENST00000356589.2_Missense_Mutation_p.A1248V|ADAMTS13_ENST00000355699.2_Missense_Mutation_p.A1279V|ADAMTS13_ENST00000371916.1_3'UTR|ADAMTS13_ENST00000371910.1_Missense_Mutation_p.A131V	p.A1335V	NM_139025.3|NM_139027.3	NP_620594.1|NP_620596.2	Q76LX8	ATS13_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05)	28	4448	+			1335			CUB 2.		Q6UY16|Q710F6|Q711T8|Q96L37|Q9H0G3|Q9UGQ1	Missense_Mutation	SNP	ENST00000371929.3	37	c.4004C>T	CCDS6970.1	.	.	.	.	.	.	.	.	.	.	C	11.37	1.619173	0.28801	.	.	ENSG00000160323	ENST00000371929;ENST00000355699;ENST00000356589;ENST00000371910	T;T;T;T	0.51071	0.72;0.72;0.72;0.72	4.83	4.83	0.62350	CUB (1);	.	.	.	.	T	0.45994	0.1370	M	0.70595	2.14	0.80722	D	1	B;B;B	0.33637	0.011;0.42;0.42	B;B;B	0.30782	0.007;0.12;0.12	T	0.53578	-0.8419	9	0.87932	D	0	.	10.6959	0.45899	0.1906:0.8094:0.0:0.0	.	1335;1248;1279	Q76LX8;Q76LX8-3;Q76LX8-2	ATS13_HUMAN;.;.	V	1335;1279;1248;131	ENSP00000360997:A1335V;ENSP00000347927:A1279V;ENSP00000348997:A1248V;ENSP00000360978:A131V	ENSP00000347927:A1279V	A	+	2	0	ADAMTS13	135312964	0.752000	0.28338	0.898000	0.35279	0.602000	0.36980	2.680000	0.46918	2.222000	0.72286	0.655000	0.94253	GCA		0.622	ADAMTS13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000054920.1	NM_139025		12	27	0	0	0	1	0	12	27					T	136323143	C	T	136323143	3	4	357	1	0	0	0	0	1	0	0	0	258	710	25	3	4114	3	ADAMTS13	9	136323143	Missense_Mutation	SNP	C	TCGA-M7-A725-01A-12D-A32B-08	1220845	136323143	4890288	21	17874											
JMJD1C	221037	broad.mit.edu	37	chr10	64958388	64958388	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atatctagttcatcatcttcAaaattttcatgtgtccacaa	13	16	3	9	0	6	0	4	0	2	0	7	0	7	0	1	0	0	1	1	0	5	6			TCGA-M7-A725-01A-12D-A32B-08	TCGA-M7-A725-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc15245-4b29-4381-929e-2e40cf170982	9b19febe-309d-4958-8102-f0fc7490dabb	g.chr10:64958388A>G	ENST00000399262.2	-	12	5594	c.5376T>C	c.(5374-5376)ttT>ttC	p.F1792F	JMJD1C_ENST00000402544.1_Silent_p.F1573F|JMJD1C_ENST00000399251.1_3'UTR|JMJD1C_ENST00000542921.1_Silent_p.F1610F	NM_032776.1	NP_116165.1	Q15652	JHD2C_HUMAN	jumonji domain containing 1C	1792					blood coagulation (GO:0007596)|chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	intracellular (GO:0005622)|nucleoplasm (GO:0005654)	dioxygenase activity (GO:0051213)|metal ion binding (GO:0046872)|thyroid hormone receptor binding (GO:0046966)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	77	Prostate(12;0.0119)|all_hematologic(501;0.191)					CATCATCTTCAAAATTTTCAT	0.323																																						ENST00000399262.2																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	77						c.(5374-5376)ttT>ttC		jumonji domain containing 1C							119	115	116					10																	64958388		1825	4071	5896	SO:0001819	synonymous_variant	221037				blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding	g.chr10:64958388A>G	L40411	CCDS41532.1, CCDS60538.1	10q22.1	2011-05-25	2004-03-31	2004-04-01	ENSG00000171988	ENSG00000171988			12313	protein-coding gene	gene with protein product		604503	"thyroid hormone receptor interactor 8"	TRIP8		7776974	Standard	XM_005269624		Approved	DKFZp761F0118, KIAA1380, FLJ14374	uc001jmn.3	Q15652	OTTHUMG00000018311	ENST00000399262.2:c.5376T>C	10.37:g.64958388A>G						JMJD1C_ENST00000399251.1_3'UTR|JMJD1C_ENST00000402544.1_Silent_p.F1573F|JMJD1C_ENST00000542921.1_Silent_p.F1610F	p.F1792F	NM_032776.1	NP_116165.1	Q15652	JHD2C_HUMAN			12	5594	-	Prostate(12;0.0119)|all_hematologic(501;0.191)		1792					A0T124|Q5SQZ8|Q5SQZ9|Q5SR00|Q7Z3E7|Q8N3U0|Q96KB9|Q9P2G7	Silent	SNP	ENST00000399262.2	37	c.5376T>C	CCDS41532.1																																																																																				0.323	JMJD1C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048249.2	NM_004241		5	119	0	0	0	1	0	5	119					G	64958388	A	G	64958388	2	3	357	1	0	0	0	0	0	0	0	1	7950	127	5	4		4	JMJD1C	10	64958388	Silent	SNP	A	TCGA-M7-A725-01A-12D-A32B-08		64958388	70576359	22	17875											
C10orf118	55088	broad.mit.edu	37	chr10	115922869	115922869	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttatgctcattaggttgacaTaaagttttatcagtgtttaa	12	18	7	4	0	2	1	2	1	0	0	2	1	2	1	0	1	1	4	0	1	6	8			TCGA-M7-A725-01A-12D-A32B-08	TCGA-M7-A725-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc15245-4b29-4381-929e-2e40cf170982	9b19febe-309d-4958-8102-f0fc7490dabb	g.chr10:115922869T>A	ENST00000369287.3	-	2	425	c.159A>T	c.(157-159)ttA>ttT	p.L53F	C10orf118_ENST00000369286.1_Missense_Mutation_p.L53F|C10orf118_ENST00000369285.3_Missense_Mutation_p.L53F	NM_018017.2	NP_060487.2	Q7Z3E2	CC186_HUMAN		53										NS(1)|autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(9)|ovary(2)	24		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0161)|all cancers(201;0.0397)		TAGGTTGACATAAAGTTTTAT	0.363																																						ENST00000369287.3																			0				NS(1)|autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(9)|ovary(2)	24						c.(157-159)ttA>ttT		chromosome 10 open reading frame 118							110	111	111					10																	115922869		2203	4300	6503	SO:0001583	missense	55088							g.chr10:115922869T>A																												ENST00000369287.3:c.159A>T	10.37:g.115922869T>A	ENSP00000358293:p.Leu53Phe					C10orf118_ENST00000369286.1_Missense_Mutation_p.L53F|C10orf118_ENST00000369285.3_Missense_Mutation_p.L53F	p.L53F	NM_018017.2	NP_060487.2	Q7Z3E2	CJ118_HUMAN		Epithelial(162;0.0161)|all cancers(201;0.0397)	2	425	-		Colorectal(252;0.172)|Breast(234;0.188)	53					Q2M2V6|Q3ZB81|Q6NS91|Q7RTP1|Q8N117|Q8N3G3|Q8N6C2|Q9NWA3	Missense_Mutation	SNP	ENST00000369287.3	37	c.159A>T	CCDS7587.1	.	.	.	.	.	.	.	.	.	.	T	8.365	0.834073	0.16820	.	.	ENSG00000165813	ENST00000369287;ENST00000430353;ENST00000369286;ENST00000369285	T;T;T	0.33216	1.85;1.42;1.42	5.65	3.29	0.37713	.	1.347050	0.04857	N	0.443320	T	0.28134	0.0694	L	0.44542	1.39	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.26018	-1.0115	10	0.52906	T	0.07	.	5.0395	0.14452	0.3505:0.0795:0.0:0.5701	.	53	Q7Z3E2	CJ118_HUMAN	F	53;159;53;53	ENSP00000358293:L53F;ENSP00000358292:L53F;ENSP00000358291:L53F	ENSP00000358291:L53F	L	-	3	2	C10orf118	115912859	0.000000	0.05858	0.619000	0.29118	0.290000	0.27261	0.174000	0.16743	0.419000	0.25927	0.529000	0.55759	TTA		0.363	C10orf118-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050455.1			45	69	0	0	0	1	0	45	69					A	115922869	T	A	115922869	3	1	357	1	0	0	0	0	1	0	0	0	1587	1403	49	5	2597	5	C10orf118	10	115922869	Missense_Mutation	SNP	T	TCGA-M7-A725-01A-12D-A32B-08	50964481	115922869	19611878	23	17876											
TRIM3	10612	broad.mit.edu	37	chr11	6479027	6479027	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tcacgatgctccccggcgcgGcactcaccacacatggccgt	7	6	10	18	5	2	0	2	0	0	0	3	1	3	0	4	3	1	2	4	3	0	0			TCGA-M7-A725-01A-12D-A32B-08	TCGA-M7-A725-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc15245-4b29-4381-929e-2e40cf170982	9b19febe-309d-4958-8102-f0fc7490dabb	g.chr11:6479027G>A	ENST00000525074.1	-	4	808	c.414C>T	c.(412-414)tgC>tgT	p.C138C	TRIM3_ENST00000345851.3_Silent_p.C138C|TRIM3_ENST00000536344.1_Silent_p.C19C|TRIM3_ENST00000537602.1_Silent_p.C138C|TRIM3_ENST00000359518.3_Silent_p.C138C|TRIM3_ENST00000529058.1_5'Flank	NM_001248006.1	NP_001234935.1	O75382	TRIM3_HUMAN	tripartite motif containing 3	138					nervous system development (GO:0007399)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|endosome (GO:0005768)	protein C-terminus binding (GO:0008022)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(3)	27		all_lung(207;9.97e-06)|Lung NSC(207;1.74e-05)|Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;9.34e-10)|Lung(200;0.0234)|LUSC - Lung squamous cell carcinoma(625;0.133)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CCCCGGCGCGGCACTCACCAC	0.612																																					Melanoma(6;5 510 1540 25169 29084)	ENST00000525074.1																			0				breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(3)	27						c.(412-414)tgC>tgT		tripartite motif containing 3							90	80	83					11																	6479027		2201	4296	6497	SO:0001819	synonymous_variant	10612				nervous system development|protein transport	early endosome	protein C-terminus binding|zinc ion binding	g.chr11:6479027G>A	AF045239	CCDS7764.1, CCDS58115.1	11p15.5	2013-01-09	2011-01-25	2001-11-23	ENSG00000110171	ENSG00000110171		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	10064	protein-coding gene	gene with protein product	"ring finger protein 22", "brain expressed ring finger", "tripartite motif protein TRIM3"	605493	"tripartite motif-containing 3"	RNF22		10391919	Standard	NM_006458		Approved	HAC1, BERP, RNF97	uc009yfd.3	O75382	OTTHUMG00000133405	ENST00000525074.1:c.414C>T	11.37:g.6479027G>A						TRIM3_ENST00000359518.3_Silent_p.C138C|TRIM3_ENST00000345851.3_Silent_p.C138C|TRIM3_ENST00000537602.1_Silent_p.C138C|TRIM3_ENST00000536344.1_Silent_p.C19C	p.C138C	NM_001248006.1	NP_001234935.1	O75382	TRIM3_HUMAN		Epithelial(150;9.34e-10)|Lung(200;0.0234)|LUSC - Lung squamous cell carcinoma(625;0.133)|BRCA - Breast invasive adenocarcinoma(625;0.135)	4	808	-		all_lung(207;9.97e-06)|Lung NSC(207;1.74e-05)|Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)	138					B7Z5E6|F5H2Q8|Q4V9L4|Q9C038|Q9C039	Silent	SNP	ENST00000525074.1	37	c.414C>T	CCDS7764.1																																																																																				0.612	TRIM3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384224.2	NM_006458		4	76	0	0	0	1	0	4	76					A	6479027	G	A	6479027	2	1	357	1	0	0	0	0	0	0	0	1	16501	1195	42	3		3	TRIM3	11	6479027	Silent	SNP	G	TCGA-M7-A725-01A-12D-A32B-08		6479027	128527489	24	17877											
LRP4	4038	broad.mit.edu	37	chr11	46898339	46898339	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgagccatccagattggcaCgactgatcctgtgcagtgtg	8	10	13	10	1	0	3	0	2	0	1	2	4	2	3	3	1	2	2	3	1	0	1			TCGA-M7-A725-01A-12D-A32B-08	TCGA-M7-A725-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc15245-4b29-4381-929e-2e40cf170982	9b19febe-309d-4958-8102-f0fc7490dabb	g.chr11:46898339C>T	ENST00000378623.1	-	24	3562	c.3320G>A	c.(3319-3321)cGt>cAt	p.R1107H	LRP4-AS1_ENST00000502049.2_RNA	NM_002334.3	NP_002325.2	O75096	LRP4_HUMAN	low density lipoprotein receptor-related protein 4	1107					dendrite morphogenesis (GO:0048813)|dorsal/ventral pattern formation (GO:0009953)|embryonic digit morphogenesis (GO:0042733)|endocytosis (GO:0006897)|extracellular matrix organization (GO:0030198)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|limb development (GO:0060173)|negative regulation of axonogenesis (GO:0050771)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of ossification (GO:0030279)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of presynaptic membrane organization (GO:1901631)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|protein heterotetramerization (GO:0051290)|proximal/distal pattern formation (GO:0009954)|regulation of protein phosphorylation (GO:0001932)|skeletal muscle acetylcholine-gated channel clustering (GO:0071340)|synapse organization (GO:0050808)|synaptic growth at neuromuscular junction (GO:0051124)|Wnt signaling pathway (GO:0016055)	cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|postsynaptic density (GO:0014069)|synaptic membrane (GO:0097060)	calcium ion binding (GO:0005509)|receptor tyrosine kinase binding (GO:0030971)|scaffold protein binding (GO:0097110)			breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70				Lung(87;0.159)		CAGATTGGCACGACTGATCCT	0.567																																						ENST00000378623.1																			0				breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70						c.(3319-3321)cGt>cAt		low density lipoprotein receptor-related protein 4							197	156	170					11																	46898339		2201	4299	6500	SO:0001583	missense	4038				endocytosis|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to membrane	calcium ion binding|receptor activity	g.chr11:46898339C>T	AB011540	CCDS31478.1	11p11.2	2013-05-29			ENSG00000134569	ENSG00000134569		"Low density lipoprotein receptors"	6696	protein-coding gene	gene with protein product		604270				9693030	Standard	NM_002334		Approved	MEGF7, CLSS, LRP-4, SOST2	uc001ndn.4	O75096	OTTHUMG00000166700	ENST00000378623.1:c.3320G>A	11.37:g.46898339C>T	ENSP00000367888:p.Arg1107His						p.R1107H	NM_002334.3	NP_002325.2	O75096	LRP4_HUMAN		Lung(87;0.159)	24	3562	-			1107					B2RN39|Q4AC85|Q5KTZ5	Missense_Mutation	SNP	ENST00000378623.1	37	c.3320G>A	CCDS31478.1	.	.	.	.	.	.	.	.	.	.	C	25.8	4.679918	0.88542	.	.	ENSG00000134569	ENST00000378623	D	0.96300	-3.97	5.75	5.75	0.90469	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.85682	D	0.000000	D	0.98817	0.9601	H	0.95470	3.675	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	D	0.99308	1.0903	10	0.87932	D	0	.	19.9522	0.97203	0.0:1.0:0.0:0.0	.	1107	O75096	LRP4_HUMAN	H	1107	ENSP00000367888:R1107H	ENSP00000367888:R1107H	R	-	2	0	LRP4	46854915	1.000000	0.71417	1.000000	0.80357	0.557000	0.35523	7.588000	0.82629	2.725000	0.93324	0.655000	0.94253	CGT		0.567	LRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391133.1	NM_002334		8	115	0	0	0	1	0	8	115					T	46898339	C	T	46898339	3	4	357	1	0	0	0	0	1	0	0	0	8959	536	19	1	2457	1	LRP4	11	46898339	Missense_Mutation	SNP	C	TCGA-M7-A725-01A-12D-A32B-08	40419312	46898339	88108177	25	17878											
ATM	472	broad.mit.edu	37	chr11	108175442	108175442	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gactgtacttccatacttgaTtcatgatattttactccaag	11	16	5	9	0	1	2	1	2	0	0	3	3	3	2	2	0	3	1	2	0	5	8			TCGA-M7-A725-01A-12D-A32B-08	TCGA-M7-A725-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc15245-4b29-4381-929e-2e40cf170982	9b19febe-309d-4958-8102-f0fc7490dabb	g.chr11:108175442T>A	ENST00000452508.2	+	38	5726	c.5537T>A	c.(5536-5538)aTt>aAt	p.I1846N	ATM_ENST00000278616.4_Missense_Mutation_p.I1846N			Q13315	ATM_HUMAN	ATM serine/threonine kinase	1846					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|DNA damage induced protein phosphorylation (GO:0006975)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|heart development (GO:0007507)|histone mRNA catabolic process (GO:0071044)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|lipoprotein catabolic process (GO:0042159)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of B cell proliferation (GO:0030889)|neuron apoptotic process (GO:0051402)|oocyte development (GO:0048599)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of neuron apoptotic process (GO:0043525)|pre-B cell allelic exclusion (GO:0002331)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reciprocal meiotic recombination (GO:0007131)|replicative senescence (GO:0090399)|response to hypoxia (GO:0001666)|response to ionizing radiation (GO:0010212)|signal transduction (GO:0007165)|signal transduction involved in mitotic G2 DNA damage checkpoint (GO:0072434)|somitogenesis (GO:0001756)|telomere maintenance (GO:0000723)	cytoplasmic vesicle (GO:0031410)|nucleoplasm (GO:0005654)|spindle (GO:0005819)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|histone serine kinase activity (GO:0035174)|protein complex binding (GO:0032403)|protein dimerization activity (GO:0046983)|protein N-terminus binding (GO:0047485)|protein serine/threonine kinase activity (GO:0004674)			NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	Caffeine(DB00201)	CCATACTTGATTCATGATATT	0.338			"D, Mis, N, F, S"		T-PLL	"leukemia, lymphoma, medulloblastoma, glioma"		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)																												ENST00000278616.4			yes	Rec	yes	Ataxia-telangiectasia	11	11q22.3	472	"D, Mis, N, F, S"	ataxia telangiectasia mutated			"L, O"		"leukemia, lymphoma, medulloblastoma, glioma"	T-PLL		0				NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448						c.(5536-5538)aTt>aAt	Genes defective in diseases associated with sensitivity to DNA damaging agents	ataxia telangiectasia mutated							74	71	72					11																	108175442		2201	4298	6499	SO:0001583	missense	472	Ataxia Telangiectasia	Familial Cancer Database	AT, Louis-Bar syndrome	cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding	g.chr11:108175442T>A	AB209133	CCDS31669.1	11q22-q23	2014-09-17	2014-06-17		ENSG00000149311	ENSG00000149311			795	protein-coding gene	gene with protein product	"TEL1, telomere maintenance 1, homolog (S. cerevisiae)"	607585	"ataxia telangiectasia mutated (includes complementation groups A, C and D)", "ataxia telangiectasia mutated"	ATA, ATDC, ATC, ATD			Standard	XM_005271561		Approved	TEL1, TELO1	uc001pkb.1	Q13315	OTTHUMG00000166480	ENST00000452508.2:c.5537T>A	11.37:g.108175442T>A	ENSP00000388058:p.Ile1846Asn	TSP Lung(14;0.12)				ATM_ENST00000452508.2_Missense_Mutation_p.I1846N	p.I1846N	NM_000051.3	NP_000042.3	Q13315	ATM_HUMAN		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	37	5922	+		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)	1846					B2RNX5|O15429|Q12758|Q16551|Q93007|Q9NP02|Q9UCX7	Missense_Mutation	SNP	ENST00000452508.2	37	c.5537T>A	CCDS31669.1	.	.	.	.	.	.	.	.	.	.	T	21.8	4.207171	0.79127	.	.	ENSG00000149311	ENST00000278616;ENST00000452508	T;T	0.78816	-1.21;-1.21	5.52	5.52	0.82312	Armadillo-type fold (1);	0.153026	0.64402	D	0.000020	D	0.85379	0.5683	M	0.67953	2.075	0.42374	D	0.992465	D	0.69078	0.997	P	0.60682	0.878	D	0.87405	0.2372	10	0.87932	D	0	.	15.9357	0.79704	0.0:0.0:0.0:1.0	.	1846	Q13315	ATM_HUMAN	N	1846	ENSP00000278616:I1846N;ENSP00000388058:I1846N	ENSP00000278616:I1846N	I	+	2	0	ATM	107680652	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.609000	0.74173	2.218000	0.71995	0.482000	0.46254	ATT		0.338	ATM-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389938.1	NM_000051		17	24	0	0	0	1	0	17	24					A	108175442	T	A	108175442	3	1	357	1	0	0	0	0	1	0	0	0	1109	1493	52	5	5679	5	ATM	11	108175442	Missense_Mutation	SNP	T	TCGA-M7-A725-01A-12D-A32B-08	61277103	108175442	26831074	26	17879											
SLC37A4	2542	broad.mit.edu	37	chr11	118899962	118899962	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cttgtccaaagggatctcttCcaccaatgatggcatgacaa	12	10	8	11	0	1	2	0	2	1	0	4	3	3	3	3	2	0	1	3	2	3	2			TCGA-M7-A725-01A-12D-A32B-08	TCGA-M7-A725-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc15245-4b29-4381-929e-2e40cf170982	9b19febe-309d-4958-8102-f0fc7490dabb	g.chr11:118899962C>T	ENST00000545985.1	-	3	874	c.118G>A	c.(118-120)Gaa>Aaa	p.E40K	SLC37A4_ENST00000357590.5_Missense_Mutation_p.E40K|SLC37A4_ENST00000525102.1_5'UTR|SLC37A4_ENST00000330775.7_Missense_Mutation_p.E40K|SLC37A4_ENST00000538950.1_Intron	NM_001164277.1|NM_001467.5	NP_001157749.1|NP_001458.1	O43826	G6PT1_HUMAN	solute carrier family 37 (glucose-6-phosphate transporter), member 4	40					carbohydrate metabolic process (GO:0005975)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glucose transport (GO:0015758)|glucose-6-phosphate transport (GO:0015760)|hexose transport (GO:0008645)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	glucose-6-phosphate transmembrane transporter activity (GO:0015152)|transporter activity (GO:0005215)			endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|prostate(1)	6	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_neural(223;0.112)|all_hematologic(192;0.207)		BRCA - Breast invasive adenocarcinoma(274;7.58e-05)		GGGATCTCTTCCACCAATGAT	0.507																																						ENST00000545985.1																			0				endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|prostate(1)	6						c.(118-120)Gaa>Aaa		solute carrier family 37 (glucose-6-phosphate transporter), member 4							90	89	89					11																	118899962		2059	4209	6268	SO:0001583	missense	2542				glucose homeostasis|glucose metabolic process	endoplasmic reticulum membrane|integral to endoplasmic reticulum membrane|integral to membrane	glucose-6-phosphate transmembrane transporter activity	g.chr11:118899962C>T	Y15409		11q23.3	2014-09-17	2007-03-28	2003-09-10		ENSG00000137700		"Solute carriers"	4061	protein-coding gene	gene with protein product		602671	"glucose-6-phosphatase, transport (glucose-6-phosphate) protein 1"	G6PT1, G6PT2, G6PT3		9428641, 9463334	Standard	NM_001164277		Approved	GSD1b, GSD1c, GSD1d	uc010ryt.1	O43826		ENST00000545985.1:c.118G>A	11.37:g.118899962C>T	ENSP00000475241:p.Glu40Lys					SLC37A4_ENST00000357590.5_Missense_Mutation_p.E40K|SLC37A4_ENST00000330775.7_Missense_Mutation_p.E40K|SLC37A4_ENST00000525102.1_5'UTR|SLC37A4_ENST00000538950.1_Intron	p.E40K	NM_001164277.1|NM_001467.5	NP_001157749.1|NP_001458.1	O43826	G6PT1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;7.58e-05)	3	874	-	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_neural(223;0.112)|all_hematologic(192;0.207)	40					O96016|Q5J7V4|Q9UI19|Q9UNS4	Missense_Mutation	SNP	ENST00000545985.1	37	c.118G>A																																																																																					0.507	SLC37A4-204	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001467		9	15	0	0	0	1	0	9	15					T	118899962	C	T	118899962	3	4	357	1	0	0	0	0	1	0	0	0	14600	864	30	3	1274	3	SLC37A4	11	118899962	Missense_Mutation	SNP	C	TCGA-M7-A725-01A-12D-A32B-08	10724520	118899962	16106554	27	17880											
TMEM132B	114795	broad.mit.edu	37	chr12	126138738	126138738	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcatgtatgccttgctctgcGtcttctgtctggccattctg	3	16	10	12	1	5	0	0	0	5	0	5	0	5	0	2	1	3	3	2	1	1	4			TCGA-M7-A725-01A-12D-A32B-08	TCGA-M7-A725-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc15245-4b29-4381-929e-2e40cf170982	9b19febe-309d-4958-8102-f0fc7490dabb	g.chr12:126138738G>A	ENST00000299308.3	+	9	2727	c.2719G>A	c.(2719-2721)Gtc>Atc	p.V907I	TMEM132B_ENST00000535886.1_Missense_Mutation_p.V419I	NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN	transmembrane protein 132B	907						integral component of membrane (GO:0016021)				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		CTTGCTCTGCGTCTTCTGTCT	0.522																																						ENST00000299308.3																			0				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107						c.(2719-2721)Gtc>Atc		transmembrane protein 132B							98	96	97					12																	126138738		2038	4218	6256	SO:0001583	missense	114795					integral to membrane		g.chr12:126138738G>A	AB067493	CCDS41859.1, CCDS66501.1	12q24.31	2006-03-02							29397	protein-coding gene	gene with protein product						11572484	Standard	NM_001286219		Approved	KIAA1906, KIAA1786	uc001uhe.1	Q14DG7		ENST00000299308.3:c.2719G>A	12.37:g.126138738G>A	ENSP00000299308:p.Val907Ile					TMEM132B_ENST00000535886.1_Missense_Mutation_p.V419I	p.V907I	NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)	9	2727	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		907					A2RRG8|Q8NA73|Q96JN9|Q96PY1	Missense_Mutation	SNP	ENST00000299308.3	37	c.2719G>A	CCDS41859.1	.	.	.	.	.	.	.	.	.	.	G	26.3	4.720217	0.89205	.	.	ENSG00000139364	ENST00000299308;ENST00000535886	T;T	0.21031	2.03;2.03	5.43	5.43	0.79202	.	0.107006	0.41294	N	0.000908	T	0.40372	0.1114	L	0.39467	1.215	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.06991	-1.0796	10	0.45353	T	0.12	.	19.2594	0.93961	0.0:0.0:1.0:0.0	.	907	Q14DG7	T132B_HUMAN	I	907;419	ENSP00000299308:V907I;ENSP00000440436:V419I	ENSP00000299308:V907I	V	+	1	0	TMEM132B	124704691	1.000000	0.71417	0.985000	0.45067	0.895000	0.52256	7.748000	0.85085	2.543000	0.85770	0.655000	0.94253	GTC		0.522	TMEM132B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000400043.1	NM_052907		26	55	0	0	0	1	0	26	55					A	126138738	G	A	126138738	3	1	357	1	0	0	0	0	1	0	0	0	16043	1145	40	1	2753	1	TMEM132B	12	126138738	Missense_Mutation	SNP	G	TCGA-M7-A725-01A-12D-A32B-08		126138738	7713157	28	17881											
TMTC4	84899	broad.mit.edu	37	chr13	101257321	101257321	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctccttagttcctgatgccGtggggtcaagctgcaaggag	7	11	13	10	1	2	1	1	1	1	0	4	2	3	2	3	3	3	3	3	3	3	2			TCGA-M7-A725-01A-12D-A32B-08	TCGA-M7-A725-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc15245-4b29-4381-929e-2e40cf170982	9b19febe-309d-4958-8102-f0fc7490dabb	g.chr13:101257321G>A	ENST00000376234.3	-	18	2342	c.2153C>T	c.(2152-2154)aCg>aTg	p.T718M	TMTC4_ENST00000328767.5_Missense_Mutation_p.T607M|TMTC4_ENST00000342624.5_Missense_Mutation_p.T737M	NM_001079669.1	NP_001073137.1	Q5T4D3	TMTC4_HUMAN	transmembrane and tetratricopeptide repeat containing 4	718						integral component of membrane (GO:0016021)				breast(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					TCCTGATGCCGTGGGGTCAAG	0.423																																						ENST00000342624.5																			0				breast(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						c.(2209-2211)aCg>aTg		transmembrane and tetratricopeptide repeat containing 4							277	248	258					13																	101257321		2203	4300	6503	SO:0001583	missense	84899					integral to membrane	binding	g.chr13:101257321G>A		CCDS9497.2, CCDS41904.1, CCDS66575.1	13q32.3	2013-01-10	2006-01-06		ENSG00000125247	ENSG00000125247		"Tetratricopeptide (TTC) repeat domain containing"	25904	protein-coding gene	gene with protein product							Standard	XM_005254082		Approved	FLJ14624, FLJ22153	uc001vot.3	Q5T4D3	OTTHUMG00000017289	ENST00000376234.3:c.2153C>T	13.37:g.101257321G>A	ENSP00000365408:p.Thr718Met					TMTC4_ENST00000376234.3_Missense_Mutation_p.T718M|TMTC4_ENST00000328767.5_Missense_Mutation_p.T607M	p.T737M	NM_032813.2	NP_116202.2	Q5T4D3	TMTC4_HUMAN			19	2468	-	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		718					A6NLI7|B7Z666|Q5T4D4|Q5T4D5|Q5T4D6|Q8WV63|Q96SU8	Missense_Mutation	SNP	ENST00000376234.3	37	c.2210C>T	CCDS41904.1	.	.	.	.	.	.	.	.	.	.	G	6.768	0.510587	0.12883	.	.	ENSG00000125247	ENST00000376234;ENST00000342624;ENST00000328767	T;T;T	0.55760	0.5;0.5;0.5	6.15	-0.407	0.12385	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.910885	0.09740	N	0.762053	T	0.36524	0.0970	N	0.25485	0.75	0.09310	N	1	B;B;B	0.21147	0.052;0.001;0.015	B;B;B	0.17098	0.009;0.005;0.017	T	0.27400	-1.0075	10	0.46703	T	0.11	.	7.943	0.29969	0.3115:0.2099:0.4786:0.0	.	607;718;737	B7Z666;Q5T4D3;Q5T4D3-3	.;TMTC4_HUMAN;.	M	718;737;607	ENSP00000365408:T718M;ENSP00000343871:T737M;ENSP00000365409:T607M	ENSP00000365409:T607M	T	-	2	0	TMTC4	100055322	0.000000	0.05858	0.001000	0.08648	0.315000	0.28087	0.792000	0.26929	-0.045000	0.13468	-0.134000	0.14843	ACG		0.423	TMTC4-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045649.2	NM_032813		8	165	0	0	0	1	0	8	165					A	101257321	G	A	101257321	3	1	357	1	0	0	0	0	1	0	0	0	16260	1145	40	1	76	1	TMTC4	13	101257321	Missense_Mutation	SNP	G	TCGA-M7-A725-01A-12D-A32B-08		101257321	13912557	29	17882											
MAP3K9	4293	broad.mit.edu	37	chr14	71267477	71267477	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aatctgcacagcccaattcaCcaggatgtctgggggaatcc	11	8	10	12	0	3	0	1	0	2	0	4	2	4	2	3	3	2	1	3	3	3	1			TCGA-M7-A725-01A-12D-A32B-08	TCGA-M7-A725-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc15245-4b29-4381-929e-2e40cf170982	9b19febe-309d-4958-8102-f0fc7490dabb	g.chr14:71267477C>T	ENST00000554752.2	-	2	726	c.727G>A	c.(727-729)Gtg>Atg	p.V243M	MAP3K9_ENST00000381250.4_Missense_Mutation_p.V243M|MAP3K9_ENST00000555993.2_Missense_Mutation_p.V243M	NM_001284230.1	NP_001271159.1	P80192	M3K9_HUMAN	mitogen-activated protein kinase kinase kinase 9	243	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of JNKK activity (GO:0007256)|activation of JUN kinase activity (GO:0007257)|apoptotic process (GO:0006915)|positive regulation of apoptotic process (GO:0043065)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)		ATP binding (GO:0005524)|JUN kinase kinase kinase activity (GO:0004706)|MAP kinase kinase activity (GO:0004708)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(1)|skin(3)|stomach(2)	46				all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08)		GCCCAATTCACCAGGATGTCT	0.493																																					GBM(114;411 1587 13539 28235 50070)	ENST00000554752.2																			0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(1)|skin(3)|stomach(2)	46						c.(727-729)Gtg>Atg		mitogen-activated protein kinase kinase kinase 9							104	95	98					14																	71267477		2203	4300	6503	SO:0001583	missense	4293				activation of JUN kinase activity|protein autophosphorylation		ATP binding|JUN kinase kinase kinase activity|MAP kinase kinase activity|protein homodimerization activity	g.chr14:71267477C>T	AF251442	CCDS32112.1, CCDS61485.1, CCDS61488.1, CCDS73650.1	14q24.2	2012-10-02			ENSG00000006432	ENSG00000006432		"Mitogen-activated protein kinase cascade / Kinase kinase kinases"	6861	protein-coding gene	gene with protein product		600136		MLK1			Standard	NM_001284231		Approved	PRKE1, MEKK9	uc001xml.3	P80192	OTTHUMG00000171249	ENST00000554752.2:c.727G>A	14.37:g.71267477C>T	ENSP00000451612:p.Val243Met					MAP3K9_ENST00000555993.2_Missense_Mutation_p.V243M|MAP3K9_ENST00000381250.4_Missense_Mutation_p.V243M	p.V243M			P80192	M3K9_HUMAN		all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08)	2	726	-			243			Protein kinase.		A3KN85|Q0D2G7|Q6EH31|Q9H2N5	Missense_Mutation	SNP	ENST00000554752.2	37	c.727G>A		.	.	.	.	.	.	.	.	.	.	C	23.4	4.407374	0.83230	.	.	ENSG00000006432	ENST00000554752;ENST00000005198;ENST00000381250	D;D	0.83914	-1.78;-1.78	5.93	5.93	0.95920	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.88070	0.6338	L	0.37897	1.145	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.80764	0.994;0.99	D	0.87092	0.2173	10	0.48119	T	0.1	.	20.3409	0.98764	0.0:1.0:0.0:0.0	.	243;243	P80192;P80192-4	M3K9_HUMAN;.	M	243	ENSP00000451612:V243M;ENSP00000370649:V243M	ENSP00000005198:V243M	V	-	1	0	MAP3K9	70337230	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.878000	0.69682	2.814000	0.96858	0.655000	0.94253	GTG		0.493	MAP3K9-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000412550.2			31	34	0	0	0	1	0	31	34					T	71267477	C	T	71267477	3	4	357	1	0	0	0	0	1	0	0	0	9257	507	18	3	2677	3	MAP3K9	14	71267477	Missense_Mutation	SNP	C	TCGA-M7-A725-01A-12D-A32B-08		71267477	36082063	30	17883											
ABCA9	10350	broad.mit.edu	37	chr17	67008130	67008130	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttcttactttgtagtcaccaAtgctgctcattgcaatgtat	9	17	6	9	0	3	0	2	0	1	0	3	0	3	0	1	0	4	5	1	0	5	6	rs144122311	byFrequency	TCGA-M7-A725-01A-12D-A32B-08	TCGA-M7-A725-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc15245-4b29-4381-929e-2e40cf170982	9b19febe-309d-4958-8102-f0fc7490dabb	g.chr17:67008130A>G	ENST00000340001.4	-	23	3345	c.3134T>C	c.(3133-3135)aTt>aCt	p.I1045T	ABCA9_ENST00000370732.2_Missense_Mutation_p.I1045T|ABCA9_ENST00000453985.2_Missense_Mutation_p.I1045T|ABCA9-AS1_ENST00000458677.1_RNA	NM_080283.3	NP_525022.2	Q8IUA7	ABCA9_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 9	1045					transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	91	Breast(10;1.47e-12)					GTAGTCACCAATGCTGCTCAT	0.403													A|||	2	0.000399361	0	0.0014	5008	,	,		21085	0		0	False		,,,				2504	0.001					ENST00000340001.4																			0				NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	91						c.(3133-3135)aTt>aCt		ATP-binding cassette, sub-family A (ABC1), member 9		A	THR/ILE	2,4404	4.2+/-10.8	0,2,2201	126	106	113		3134	4	0.4	17	dbSNP_134	113	2,8598	2.2+/-6.3	0,2,4298	no	missense	ABCA9	NM_080283.3	89	0,4,6499	GG,GA,AA		0.0233,0.0454,0.0308	benign	1045/1625	67008130	4,13002	2203	4300	6503	SO:0001583	missense	10350				transport	integral to membrane	ATP binding|ATPase activity	g.chr17:67008130A>G	AF423307	CCDS11681.1	17q24	2012-03-14			ENSG00000154258	ENSG00000154258		"ATP binding cassette transporters / subfamily A"	39	protein-coding gene	gene with protein product		612507					Standard	XM_005256934		Approved	EST640918	uc002jhu.3	Q8IUA7	OTTHUMG00000140371	ENST00000340001.4:c.3134T>C	17.37:g.67008130A>G	ENSP00000342216:p.Ile1045Thr					ABCA9-AS1_ENST00000458677.1_RNA|ABCA9_ENST00000453985.2_Missense_Mutation_p.I1045T|ABCA9_ENST00000370732.2_Missense_Mutation_p.I1045T	p.I1045T	NM_080283.3	NP_525022.2	Q8IUA7	ABCA9_HUMAN			23	3345	-	Breast(10;1.47e-12)		1045					Q6P655|Q8N2S4|Q8WWZ5|Q96MD8	Missense_Mutation	SNP	ENST00000340001.4	37	c.3134T>C	CCDS11681.1	.	.	.	.	.	.	.	.	.	.	A	10.18	1.280593	0.23392	4.54E-4	2.33E-4	ENSG00000154258	ENST00000340001;ENST00000453985;ENST00000370732;ENST00000453749	D;D	0.88201	-2.35;-2.35	5.05	3.97	0.46021	.	0.145632	0.30593	N	0.009294	D	0.88735	0.6517	L	0.53617	1.68	0.28704	N	0.903906	P;B	0.43633	0.813;0.035	P;B	0.51453	0.67;0.144	T	0.83170	-0.0094	10	0.52906	T	0.07	.	6.9208	0.24387	0.8177:0.0:0.1823:0.0	.	1045;1045	Q8IUA7-3;Q8IUA7	.;ABCA9_HUMAN	T	1045;1028;1045;1040	ENSP00000342216:I1045T;ENSP00000359767:I1045T	ENSP00000342216:I1045T	I	-	2	0	ABCA9	64519725	0.976000	0.34144	0.414000	0.26521	0.130000	0.20726	2.844000	0.48246	0.875000	0.35847	-0.274000	0.10170	ATT		0.403	ABCA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277072.2	NM_172386		3	63	0	0	0	1	0	3	63					G	67008130	A	G	67008130	3	3	357	1	0	0	0	0	1	0	0	0	39	101	4	4	1808	4	ABCA9	17	67008130	Missense_Mutation	SNP	A	TCGA-M7-A725-01A-12D-A32B-08		67008130	14187080	31	17884											
SMAD4	4089	broad.mit.edu	37	chr18	48604655	48604655	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctgctgctggaattggtgttGatgaccttcgtcgcttatgc	5	15	12	9	2	0	2	0	2	0	0	2	3	0	3	1	2	3	4	1	2	2	4	rs121912578		TCGA-M7-A725-01A-12D-A32B-08	TCGA-M7-A725-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc15245-4b29-4381-929e-2e40cf170982	9b19febe-309d-4958-8102-f0fc7490dabb	g.chr18:48604655G>A	ENST00000342988.3	+	12	2015	c.1477G>A	c.(1477-1479)Gat>Aat	p.D493N	SMAD4_ENST00000586253.1_3'UTR|SMAD4_ENST00000398417.2_Missense_Mutation_p.D493N|SMAD4_ENST00000588745.1_Missense_Mutation_p.D397N	NM_005359.5	NP_005350.1	Q13485	SMAD4_HUMAN	SMAD family member 4	493	MH2. {ECO:0000255|PROSITE- ProRule:PRU00439}.		D -> H (in pancreatic carcinoma; dbSNP:rs28936392). {ECO:0000269|PubMed:8553070}.		atrioventricular canal development (GO:0036302)|atrioventricular valve formation (GO:0003190)|axon guidance (GO:0007411)|BMP signaling pathway (GO:0030509)|brainstem development (GO:0003360)|branching involved in ureteric bud morphogenesis (GO:0001658)|cardiac septum development (GO:0003279)|cell proliferation (GO:0008283)|developmental growth (GO:0048589)|endocardial cell differentiation (GO:0060956)|endoderm development (GO:0007492)|endothelial cell activation (GO:0042118)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|formation of anatomical boundary (GO:0048859)|gastrulation with mouth forming second (GO:0001702)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|intracellular signal transduction (GO:0035556)|mesoderm development (GO:0007498)|metanephric mesenchyme morphogenesis (GO:0072133)|negative regulation of cell death (GO:0060548)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nephrogenic mesenchyme morphogenesis (GO:0072134)|neural crest cell differentiation (GO:0014033)|neuron fate commitment (GO:0048663)|palate development (GO:0060021)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation involved in heart valve morphogenesis (GO:0003251)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of binding (GO:0051098)|regulation of hair follicle development (GO:0051797)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|regulation of transforming growth factor beta2 production (GO:0032909)|response to hypoxia (GO:0001666)|response to transforming growth factor beta (GO:0071559)|sebaceous gland development (GO:0048733)|SMAD protein complex assembly (GO:0007183)|SMAD protein signal transduction (GO:0060395)|somite rostral/caudal axis specification (GO:0032525)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	activin responsive factor complex (GO:0032444)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMAD protein complex (GO:0071141)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|I-SMAD binding (GO:0070411)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|R-SMAD binding (GO:0070412)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity (GO:0030616)	p.0?(36)|p.?(2)|p.D493N(2)|p.D493H(1)		NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1)	454		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)		AATTGGTGTTGATGACCTTCG	0.463																																						ENST00000342988.3																			41	Whole gene deletion(36)|Substitution - Missense(3)|Unknown(2)	p.0?(36)|p.?(2)|p.D493N(2)|p.D493H(1)	pancreas(28)|large_intestine(3)|lung(3)|breast(3)|stomach(2)|upper_aerodigestive_tract(1)|oesophagus(1)	NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1)	454						c.(1477-1479)Gat>Aat		SMAD family member 4							121	102	109					18																	48604655		2203	4300	6503	SO:0001583	missense	4089				BMP signaling pathway|negative regulation of cell growth|negative regulation of protein catabolic process|negative regulation of transcription, DNA-dependent|palate development|positive regulation of epithelial to mesenchymal transition|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|response to transforming growth factor beta stimulus|SMAD protein complex assembly|SMAD protein signal transduction|transforming growth factor beta receptor signaling pathway	activin responsive factor complex|centrosome|cytosol	I-SMAD binding|protein homodimerization activity|R-SMAD binding|transcription regulatory region DNA binding|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity	g.chr18:48604655G>A	U44378	CCDS11950.1	18q21.1	2014-09-17	2006-11-06	2004-05-26	ENSG00000141646	ENSG00000141646		"SMADs"	6770	protein-coding gene	gene with protein product		600993	"MAD, mothers against decapentaplegic homolog 4 (Drosophila)", "SMAD, mothers against DPP homolog 4 (Drosophila)"	MADH4		8553070, 8774881	Standard	NM_005359		Approved	DPC4	uc010xdp.2	Q13485	OTTHUMG00000132696	ENST00000342988.3:c.1477G>A	18.37:g.48604655G>A	ENSP00000341551:p.Asp493Asn					SMAD4_ENST00000398417.2_Missense_Mutation_p.D493N|SMAD4_ENST00000586253.1_3'UTR|SMAD4_ENST00000588745.1_Missense_Mutation_p.D397N	p.D493N	NM_005359.5	NP_005350.1	Q13485	SMAD4_HUMAN		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)	12	2015	+		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)	493		D -> H (in pancreatic carcinoma; dbSNP:rs28936392).	MH2.		A8K405	Missense_Mutation	SNP	ENST00000342988.3	37	c.1477G>A	CCDS11950.1	.	.	.	.	.	.	.	.	.	.	G	25.1	4.601198	0.87055	.	.	ENSG00000141646	ENST00000342988;ENST00000398417	D;D	0.98862	-5.19;-5.19	5.99	5.99	0.97316	SMAD domain-like (1);SMAD/FHA domain (1);SMAD domain, Dwarfin-type (3);	0.044013	0.85682	D	0.000000	D	0.98985	0.9654	M	0.81682	2.555	0.80722	D	1	P	0.48911	0.917	P	0.57846	0.828	D	0.99679	1.0998	10	0.66056	D	0.02	.	19.2202	0.93793	0.0:0.0:1.0:0.0	.	493	Q13485	SMAD4_HUMAN	N	493	ENSP00000341551:D493N;ENSP00000381452:D493N	ENSP00000341551:D493N	D	+	1	0	SMAD4	46858653	1.000000	0.71417	0.997000	0.53966	0.994000	0.84299	9.544000	0.98092	2.843000	0.97960	0.655000	0.94253	GAT		0.463	SMAD4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255993.3	NM_005359		21	10	0	0	0	1	0	21	10					A	48604655	G	A	48604655	3	1	357	1	0	0	0	0	1	0	0	0	14760	1290	45	3	1519	3	SMAD4	18	48604655	Missense_Mutation	SNP	G	TCGA-M7-A725-01A-12D-A32B-08		48604655	29472593	32	17885											
PTBP1	5725	broad.mit.edu	37	chr19	806459	806461	+	In_Frame_Del	DEL	CGG	CGG	-																															ggcccccctggccatcccctCggcggcggcggcagctgcgg																								rs375905582		TCGA-M7-A725-01A-12D-A32B-08	TCGA-M7-A725-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc15245-4b29-4381-929e-2e40cf170982	9b19febe-309d-4958-8102-f0fc7490dabb	g.chr19:806459_806461delCGG	ENST00000349038.4	+	9	1017_1019	c.944_946delCGG	c.(943-948)tcggcg>tcg	p.A323del	PTBP1_ENST00000356948.6_In_Frame_Del_p.A349del|MIR4745_ENST00000577608.1_RNA|PTBP1_ENST00000394601.4_In_Frame_Del_p.A342del|PTBP1_ENST00000350092.4_Intron	NM_031991.3	NP_114368.1	P26599	PTBP1_HUMAN	polypyrimidine tract binding protein 1	323	Poly-Ala.				alternative mRNA splicing, via spliceosome (GO:0000380)|gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|negative regulation of muscle cell differentiation (GO:0051148)|negative regulation of RNA splicing (GO:0033119)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing (GO:0008380)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|poly-pyrimidine tract binding (GO:0008187)|pre-mRNA binding (GO:0036002)|RNA binding (GO:0003723)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(4)	19		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;0.000172)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCCATCCCCTCGGCGGCGGCGGC	0.7																																						ENST00000356948.6																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(4)	19						c.(1021-1026)tcg>t		polypyrimidine tract binding protein 1																																				SO:0001651	inframe_deletion	5725				negative regulation of muscle cell differentiation|nuclear mRNA splicing, via spliceosome|regulation of alternative nuclear mRNA splicing, via spliceosome	heterogeneous nuclear ribonucleoprotein complex|nucleolus|nucleoplasm	mRNA binding|nucleotide binding|poly-pyrimidine tract binding|protein binding	g.chr19:806459_806461delCGG	X60648	CCDS32859.1, CCDS42456.1, CCDS45892.1	19p13.3	2013-07-16	2002-01-25	2002-01-25	ENSG00000011304	ENSG00000011304		"RNA binding motif (RRM) containing"	9583	protein-coding gene	gene with protein product	"heterogeneous nuclear ribonucleoprotein I"	600693	"polypyrimidine tract binding protein (heterogeneous nuclear ribonucleoprotein I)"	PTB		1906036, 11024286	Standard	NM_002819		Approved	HNRPI, HNRNP-I, PTB2, PTB3, PTB-1, PTB4, pPTB	uc002lpp.2	P26599		ENST00000349038.4:c.944_946delCGG	19.37:g.806468_806470delCGG	ENSP00000014112:p.Ala323del					PTBP1_ENST00000350092.4_Intron|PTBP1_ENST00000394601.4_In_Frame_Del_p.SA334del|PTBP1_ENST00000349038.4_In_Frame_Del_p.SA315del	p.SA341del	NM_002819.4	NP_002810.1	P26599	PTBP1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	10	1445_1447	+		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;0.000172)|Hepatocellular(1079;0.137)|Renal(1328;0.228)	315			RRM 3.		Q9BUQ0	In_Frame_Del	DEL	ENST00000349038.4	37	c.1022_1024delCGG	CCDS32859.1																																																																																				0.7	PTBP1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457605.1			2	4						2	4	---	---	---	---	-	806461	CGG	-	806459	7	5	357	1	0	1	0	1	0	0	0	0	12725	893	31	0	1060	0	PTBP1	19	806459	In_Frame_Del	DEL	CGG	TCGA-M7-A725-01A-12D-A32B-08		806459	58322524	33	17886											
EPOR	2057	broad.mit.edu	37	chr19	11489422	11489422	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caaactcgctctctgggctcGggatgccaggccagatcttc	7	9	11	14	2	2	1	0	0	2	1	6	2	2	2	2	3	2	2	2	3	1	1	rs139756642		TCGA-M7-A725-01A-12D-A32B-08	TCGA-M7-A725-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc15245-4b29-4381-929e-2e40cf170982	9b19febe-309d-4958-8102-f0fc7490dabb	g.chr19:11489422G>A	ENST00000222139.6	-	7	964	c.860C>T	c.(859-861)cCg>cTg	p.P287L	EPOR_ENST00000592375.2_Missense_Mutation_p.P287L	NM_000121.3	NP_000112.1	P19235	EPOR_HUMAN	erythropoietin receptor	287					brain development (GO:0007420)|decidualization (GO:0046697)|erythropoietin-mediated signaling pathway (GO:0038162)|heart development (GO:0007507)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	erythropoietin receptor activity (GO:0004900)|identical protein binding (GO:0042802)			endometrium(1)|lung(2)|ovary(1)|urinary_tract(1)	5					Darbepoetin alfa(DB00012)|Epoetin alfa(DB00016)|Epoetin Zeta(DB08923)|Peginesatide(DB08894)	CTCTGGGCTCGGGATGCCAGG	0.522																																						ENST00000592375.2																			0				endometrium(1)|lung(2)|ovary(1)|urinary_tract(1)	5						c.(859-861)cCg>cTg		erythropoietin receptor	Darbepoetin alfa(DB00012)|Epoetin alfa(DB00016)	G	LEU/PRO	0,4406		0,0,2203	91	85	87		860	5.4	0.9	19	dbSNP_134	87	1,8599	1.2+/-3.3	0,1,4299	no	missense	EPOR	NM_000121.3	98	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	287/509	11489422	1,13005	2203	4300	6503	SO:0001583	missense	2057					extracellular region|integral to plasma membrane	erythropoietin receptor activity|identical protein binding	g.chr19:11489422G>A	M34986	CCDS12260.1	19p13.3-p13.2	2013-02-11				ENSG00000187266		"Fibronectin type III domain containing"	3416	protein-coding gene	gene with protein product		133171					Standard	NM_000121		Approved		uc002mrj.2	P19235		ENST00000222139.6:c.860C>T	19.37:g.11489422G>A	ENSP00000222139:p.Pro287Leu					EPOR_ENST00000222139.6_Missense_Mutation_p.P287L	p.P287L			P19235	EPOR_HUMAN			7	964	-			287					B2RCG4|Q15443|Q2M205	Missense_Mutation	SNP	ENST00000222139.6	37	c.860C>T	CCDS12260.1	.	.	.	.	.	.	.	.	.	.	G	19.46	3.831041	0.71258	0.0	1.16E-4	ENSG00000187266	ENST00000222139	D	0.99716	-6.51	5.42	5.42	0.78866	.	0.000000	0.85682	D	0.000000	D	0.99757	0.9902	M	0.89601	3.045	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.97366	0.9973	10	0.87932	D	0	-12.8703	17.9938	0.89176	0.0:0.0:1.0:0.0	.	287	P19235	EPOR_HUMAN	L	287	ENSP00000222139:P287L	ENSP00000222139:P287L	P	-	2	0	EPOR	11350422	1.000000	0.71417	0.934000	0.37439	0.420000	0.31355	6.982000	0.76173	2.552000	0.86080	0.655000	0.94253	CCG		0.522	EPOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458791.1			23	33	0	0	0	1	0	23	33					A	11489422	G	A	11489422	3	1	357	1	0	0	0	0	1	0	0	0	5189	1116	39	2	674	2	EPOR	19	11489422	Missense_Mutation	SNP	G	TCGA-M7-A725-01A-12D-A32B-08	10682963	11489422	47639561	34	17887											
ABHD8	79575	broad.mit.edu	37	chr19	17405642	17405642	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tactcatgtgccaggaatgtGcagaaagagacactgcccgg	12	7	12	10	1	1	2	1	0	0	2	1	4	1	3	2	2	4	1	2	2	3	1			TCGA-M7-A725-01A-12D-A32B-08	TCGA-M7-A725-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc15245-4b29-4381-929e-2e40cf170982	9b19febe-309d-4958-8102-f0fc7490dabb	g.chr19:17405642G>A	ENST00000247706.3	-	3	1013	c.774C>T	c.(772-774)tgC>tgT	p.C258C	MRPL34_ENST00000600434.1_Intron|CTD-2278I10.4_ENST00000594077.1_RNA|MRPL34_ENST00000595444.1_Intron	NM_024527.4	NP_078803.4	Q96I13	ABHD8_HUMAN	abhydrolase domain containing 8	258							hydrolase activity (GO:0016787)			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(5)|urinary_tract(1)	9						CCAGGAATGTGCAGAAAGAGA	0.532																																					Ovarian(156;1368 2543 15275 41187)	ENST00000247706.3																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|lung(5)|urinary_tract(1)	9						c.(772-774)tgC>tgT		abhydrolase domain containing 8							66	54	58					19																	17405642		2203	4300	6503	SO:0001819	synonymous_variant	79575						hydrolase activity	g.chr19:17405642G>A	AK021805	CCDS12355.1	19p13.12	2010-12-09			ENSG00000127220	ENSG00000127220		"Abhydrolase domain containing"	23759	protein-coding gene	gene with protein product						12477932	Standard	NM_024527		Approved	FLJ11743, MGC14280, MGC2512	uc002ngb.4	Q96I13		ENST00000247706.3:c.774C>T	19.37:g.17405642G>A						MRPL34_ENST00000595444.1_Intron|MRPL34_ENST00000600434.1_Intron	p.C258C	NM_024527.4	NP_078803.4	Q96I13	ABHD8_HUMAN			3	1013	-			258					Q9HAE9	Silent	SNP	ENST00000247706.3	37	c.774C>T	CCDS12355.1																																																																																				0.532	ABHD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462937.1	NM_024527		3	21	0	0	0	1	0	3	21					A	17405642	G	A	17405642	2	1	357	1	0	0	0	0	0	0	0	1	87	1311	46	3		3	ABHD8	19	17405642	Silent	SNP	G	TCGA-M7-A725-01A-12D-A32B-08	5916220	17405642	41723341	35	17888											
ZNF285	26974	broad.mit.edu	37	chr19	44891888	44891888	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgagcacgtctgtacaatttCtcttccatgtaaattccctt	9	16	5	11	1	2	1	0	1	2	0	5	1	4	1	2	0	2	3	2	0	4	6			TCGA-M7-A725-01A-12D-A32B-08	TCGA-M7-A725-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc15245-4b29-4381-929e-2e40cf170982	9b19febe-309d-4958-8102-f0fc7490dabb	g.chr19:44891888C>A	ENST00000330997.4	-	4	583	c.519G>T	c.(517-519)gaG>gaT	p.E173D	ZNF285_ENST00000591679.1_Missense_Mutation_p.E180D|ZNF285_ENST00000544719.2_Missense_Mutation_p.E173D|CTC-512J12.6_ENST00000588212.1_Intron	NM_152354.3	NP_689567.3	Q96NJ3	ZN285_HUMAN	zinc finger protein 285	173					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|prostate(5)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	44						TGTACAATTTCTCTTCCATGT	0.478																																						ENST00000330997.4																			0				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|prostate(5)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	44						c.(517-519)gaG>gaT		zinc finger protein 285							101	101	101					19																	44891888		2203	4300	6503	SO:0001583	missense	26974							g.chr19:44891888C>A	AK055309	CCDS12638.1, CCDS74389.1	19q13.32	2013-01-08	2010-04-14	2010-04-14		ENSG00000267508		"Zinc fingers, C2H2-type", "-"	13079	protein-coding gene	gene with protein product			"zinc finger protein 285A"	ZNF285A			Standard	XM_005258734		Approved			Q96NJ3	OTTHUMG00000178848	ENST00000330997.4:c.519G>T	19.37:g.44891888C>A	ENSP00000333595:p.Glu173Asp					ZNF285_ENST00000544719.2_Missense_Mutation_p.E173D|ZNF285_ENST00000591679.1_Missense_Mutation_p.E180D|CTC-512J12.6_ENST00000588212.1_Intron	p.E173D	NM_152354.3	NP_689567.3					4	583	-								Q17RJ3|Q6B0A8|Q6ISR5	Missense_Mutation	SNP	ENST00000330997.4	37	c.519G>T	CCDS12638.1	.	.	.	.	.	.	.	.	.	.	C	9.702	1.154737	0.21371	.	.	ENSG00000062370	ENST00000544719;ENST00000330997	T	0.06449	3.3	3.11	2.05	0.26809	.	.	.	.	.	T	0.06781	0.0173	L	0.56199	1.76	0.23156	N	0.998201	P;P	0.46784	0.884;0.884	B;B	0.37198	0.243;0.243	T	0.28964	-1.0027	9	0.48119	T	0.1	.	9.0135	0.36155	0.0:0.8829:0.0:0.1171	.	197;173	B7ZLR9;Q96NJ3	.;ZN285_HUMAN	D	196;173	ENSP00000333595:E173D	ENSP00000333595:E173D	E	-	3	2	ZNF285	49583728	0.000000	0.05858	0.006000	0.13384	0.050000	0.14768	-0.650000	0.05378	0.639000	0.30564	0.454000	0.30748	GAG		0.478	ZNF285-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443600.1	NM_152354		5	132	1	0	0.184627	1	0.184627	5	132					A	44891888	C	A	44891888	3	1	357	1	0	0	0	0	1	0	0	0	17819	912	32	5	1257	5	ZNF285	19	44891888	Missense_Mutation	SNP	C	TCGA-M7-A725-01A-12D-A32B-08	27486246	44891888	14237095	36	17889											
LIG1	3978	broad.mit.edu	37	chr19	48636261	48636261	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtgccctctgcccgtcatatTtgtattcgcaggtgaaagct	7	13	10	11	2	2	1	1	1	1	0	3	1	2	1	2	1	3	3	2	1	3	4			TCGA-M7-A725-01A-12D-A32B-08	TCGA-M7-A725-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc15245-4b29-4381-929e-2e40cf170982	9b19febe-309d-4958-8102-f0fc7490dabb	g.chr19:48636261T>C	ENST00000263274.7	-	18	2122	c.1703A>G	c.(1702-1704)aAa>aGa	p.K568R	LIG1_ENST00000536218.1_Missense_Mutation_p.K500R|LIG1_ENST00000427526.2_Missense_Mutation_p.K537R	NM_000234.1	NP_000225.1	P18858	DNLI1_HUMAN	ligase I, DNA, ATP-dependent	568					anatomical structure morphogenesis (GO:0009653)|base-excision repair (GO:0006284)|cell division (GO:0051301)|DNA biosynthetic process (GO:0071897)|DNA ligation involved in DNA repair (GO:0051103)|DNA metabolic process (GO:0006259)|DNA repair (GO:0006281)|DNA strand elongation involved in DNA replication (GO:0006271)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|double-strand break repair via nonhomologous end joining (GO:0006303)|lagging strand elongation (GO:0006273)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|response to hydrogen peroxide (GO:0042542)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	chromosome (GO:0005694)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA ligase (ATP) activity (GO:0003910)|DNA ligase activity (GO:0003909)|metal ion binding (GO:0046872)			breast(1)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(22)|prostate(2)|skin(1)	44		all_epithelial(76;3.1e-06)|all_lung(116;4.39e-06)|Lung NSC(112;8.96e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;8.45e-05)|all cancers(93;0.000423)|Epithelial(262;0.0177)|GBM - Glioblastoma multiforme(486;0.0329)	Bleomycin(DB00290)	CCCGTCATATTTGTATTCGCA	0.572								Nucleotide excision repair (NER)																														ENST00000263274.7																			0				breast(1)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(22)|prostate(2)|skin(1)	44						c.(1702-1704)aAa>aGa	Nucleotide excision repair (NER)	ligase I, DNA, ATP-dependent	Bleomycin(DB00290)						183	168	173					19																	48636261		2203	4300	6503	SO:0001583	missense	3978				anatomical structure morphogenesis|base-excision repair|cell division|DNA ligation involved in DNA repair|DNA strand elongation involved in DNA replication|double-strand break repair via homologous recombination|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding	g.chr19:48636261T>C		CCDS12711.1, CCDS74409.1, CCDS74410.1	19q13.2-q13.3	2014-09-17				ENSG00000105486	6.5.1.1		6598	protein-coding gene	gene with protein product		126391					Standard	XM_005258934		Approved		uc002pia.1	P18858		ENST00000263274.7:c.1703A>G	19.37:g.48636261T>C	ENSP00000263274:p.Lys568Arg					LIG1_ENST00000536218.1_Missense_Mutation_p.K500R|LIG1_ENST00000427526.2_Missense_Mutation_p.K537R	p.K568R	NM_000234.1	NP_000225.1	P18858	DNLI1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;8.45e-05)|all cancers(93;0.000423)|Epithelial(262;0.0177)|GBM - Glioblastoma multiforme(486;0.0329)	18	2122	-		all_epithelial(76;3.1e-06)|all_lung(116;4.39e-06)|Lung NSC(112;8.96e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)	568					B2RAI8|Q2TB12|Q32P23	Missense_Mutation	SNP	ENST00000263274.7	37	c.1703A>G	CCDS12711.1	.	.	.	.	.	.	.	.	.	.	T	27.3	4.818260	0.90790	.	.	ENSG00000105486	ENST00000263274;ENST00000544761;ENST00000427526;ENST00000536218	D;D;D	0.97665	-4.48;-4.48;-4.48	5.48	5.48	0.80851	DNA ligase, ATP-dependent, central (1);DNA ligase, ATP-dependent, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.99330	0.9765	H	0.99952	5.035	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.97955	1.0334	10	0.87932	D	0	-20.0359	13.8169	0.63297	0.0:0.0:0.0:1.0	.	537;500;568	B4DTU4;F5GZ28;P18858	.;.;DNLI1_HUMAN	R	568;599;537;500	ENSP00000263274:K568R;ENSP00000442841:K537R;ENSP00000441531:K500R	ENSP00000263274:K568R	K	-	2	0	LIG1	53328073	1.000000	0.71417	0.999000	0.59377	0.871000	0.50021	6.890000	0.75633	2.215000	0.71742	0.533000	0.62120	AAA		0.572	LIG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465575.1	NM_000234		7	197	0	0	0	1	0	7	197					C	48636261	T	C	48636261	3	2	357	1	0	0	0	0	1	0	0	0	8781	1841	64	4	1100	4	LIG1	19	48636261	Missense_Mutation	SNP	T	TCGA-M7-A725-01A-12D-A32B-08	3744373	48636261	10492722	37	17890											
ZNF548	147694	broad.mit.edu	37	chr19	57908537	57908537	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gaatttggcccttttgtcctCactaggtaaggccctcacac	8	12	8	13	0	2	0	2	0	0	0	3	1	3	0	3	3	0	1	3	3	3	5			TCGA-M7-A725-01A-12D-A32B-08	TCGA-M7-A725-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc15245-4b29-4381-929e-2e40cf170982	9b19febe-309d-4958-8102-f0fc7490dabb	g.chr19:57908537C>T	ENST00000366197.5	+	2	387	c.137C>T	c.(136-138)tCa>tTa	p.S46L	AC003002.4_ENST00000597658.1_Intron|AC003002.6_ENST00000600421.1_3'UTR|ZNF548_ENST00000336128.7_Missense_Mutation_p.S58L|ZNF548_ENST00000598895.1_Missense_Mutation_p.S58L|AC004076.7_ENST00000597410.1_Intron|ZNF548_ENST00000597400.1_Missense_Mutation_p.S58L|AC003002.6_ENST00000596400.1_Intron	NM_152909.3	NP_690873.2	Q8NEK5	ZN548_HUMAN	zinc finger protein 548	46	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)	1		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		CTTTTGTCCTCACTAGGTAAG	0.542																																						ENST00000366197.5																			0				breast(1)	1						c.(136-138)tCa>tTa		zinc finger protein 548							429	387	401					19																	57908537		2203	4300	6503	SO:0001583	missense	147694				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57908537C>T	AK057494	CCDS46209.1, CCDS54324.1	19q13.43	2013-01-08				ENSG00000188785		"Zinc fingers, C2H2-type", "-"	26561	protein-coding gene	gene with protein product						12477932	Standard	NM_152909		Approved	FLJ32932	uc002qon.3	Q8NEK5		ENST00000366197.5:c.137C>T	19.37:g.57908537C>T	ENSP00000379482:p.Ser46Leu					AC003002.4_ENST00000597658.1_Intron|ZNF548_ENST00000336128.7_Missense_Mutation_p.S58L|ZNF548_ENST00000597400.1_Missense_Mutation_p.S58L|ZNF548_ENST00000598895.1_Missense_Mutation_p.S58L|AC003002.6_ENST00000600421.1_3'UTR|AC003002.6_ENST00000596400.1_Intron|AC004076.7_ENST00000597410.1_Intron	p.S46L	NM_152909.3	NP_690873.2	Q8NEK5	ZN548_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)	2	387	+		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)	46			KRAB.		Q96M05	Missense_Mutation	SNP	ENST00000366197.5	37	c.137C>T	CCDS46209.1	.	.	.	.	.	.	.	.	.	.	C	17.73	3.460892	0.63513	.	.	ENSG00000188785	ENST00000336128;ENST00000366197	T;T	0.03004	4.08;4.08	2.55	1.48	0.22813	Krueppel-associated box (4);	.	.	.	.	T	0.18341	0.0440	M	0.87758	2.905	0.09310	N	1	D;D	0.69078	0.997;0.997	D;D	0.83275	0.994;0.996	T	0.02179	-1.1200	9	0.59425	D	0.04	.	9.3783	0.38297	0.0:0.7785:0.2215:0.0	.	58;46	Q8NEK5-2;Q8NEK5	.;ZN548_HUMAN	L	58;46	ENSP00000337555:S58L;ENSP00000379482:S46L	ENSP00000337555:S58L	S	+	2	0	ZNF548	62600349	0.000000	0.05858	0.003000	0.11579	0.622000	0.37654	0.211000	0.17474	0.638000	0.30545	0.563000	0.77884	TCA		0.542	ZNF548-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000465937.1	NM_152909		129	219	0	0	0	1	0	129	219					T	57908537	C	T	57908537	3	4	357	1	0	0	0	0	1	0	0	0	17977	838	29	3	183	3	ZNF548	19	57908537	Missense_Mutation	SNP	C	TCGA-M7-A725-01A-12D-A32B-08	9272276	57908537	1220446	38	17891											
SLC17A9	63910	broad.mit.edu	37	chr20	61595020	61595020	+	Frame_Shift_Del	DEL	C	C	-																															accttcttcgaggagaccttCcccgacgccaaggtgagtcg																								rs538543221		TCGA-M7-A725-01A-12D-A32B-08	TCGA-M7-A725-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc15245-4b29-4381-929e-2e40cf170982	9b19febe-309d-4958-8102-f0fc7490dabb	g.chr20:61595020delC	ENST00000370351.4	+	7	941	c.810delC	c.(808-810)ttcfs	p.F270fs	SLC17A9_ENST00000488738.1_3'UTR|SLC17A9_ENST00000370349.3_Frame_Shift_Del_p.F264fs	NM_022082.3	NP_071365	Q9BYT1	S17A9_HUMAN	solute carrier family 17 (vesicular nucleotide transporter), member 9	270					exocytosis (GO:0006887)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)	transporter activity (GO:0005215)			endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	23						AGGAGACCTTCCCCGACGCCA	0.667																																						ENST00000370349.3																			0				endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	23						c.(790-792)ttfs		solute carrier family 17 (vesicular nucleotide transporter), member 9							41	44	43					20																	61595020		2115	4221	6336	SO:0001589	frameshift_variant	63910				exocytosis|transmembrane transport	integral to membrane	transporter activity	g.chr20:61595020delC	AK027065	CCDS42901.1	20q13.33	2013-07-18	2013-07-18	2009-01-22	ENSG00000101194	ENSG00000101194		"Solute carriers"	16192	protein-coding gene	gene with protein product		612107	"chromosome 20 open reading frame 59", "solute carrier family 17, member 9"	C20orf59		18375752	Standard	NM_022082		Approved	FLJ23412, VNUT	uc002yea.4	Q9BYT1	OTTHUMG00000032951	ENST00000370351.4:c.810delC	20.37:g.61595020delC	ENSP00000359376:p.Phe270fs					SLC17A9_ENST00000370351.4_Frame_Shift_Del_p.F270fs|SLC17A9_ENST00000488738.1_3'UTR	p.F264fs			Q9BYT1	S17A9_HUMAN			8	996	+			270					B3KTF2|Q5W198|Q8TB07|Q8TBP4|Q8TEL5|Q9BYT0|Q9BYT2	Frame_Shift_Del	DEL	ENST00000370351.4	37	c.792delC	CCDS42901.1																																																																																				0.667	SLC17A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080100.1	NM_022082		2	4						2	4	---	---	---	---	-	61595020	C	-	61595020	7	5	357	1	0	1	0	1	0	0	0	0	14424	854	30	0	836	0	SLC17A9	20	61595020	Frame_Shift_Del	DEL	C	TCGA-M7-A725-01A-12D-A32B-08		61595020	1430500	39	17892											
ADAMTS5	11096	broad.mit.edu	37	chr21	28338099	28338099	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtttcgcagctggcgcgcggCggcagggcctcgaagctgaa	6	6	17	12	6	0	1	0	1	0	0	2	2	0	1	1	4	2	5	1	4	2	1			TCGA-M7-A725-01A-12D-A32B-08	TCGA-M7-A725-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc15245-4b29-4381-929e-2e40cf170982	9b19febe-309d-4958-8102-f0fc7490dabb	g.chr21:28338099C>T	ENST00000284987.5	-	1	733	c.612G>A	c.(610-612)ccG>ccA	p.P204P		NM_007038.3	NP_008969.2	Q9UNA0	ATS5_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 5	204					defense response to bacterium (GO:0042742)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|proteolysis (GO:0006508)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	72						TGGCGCGCGGCGGCAGGGCCT	0.716																																					Esophageal Squamous(53;683 1080 10100 14424 45938)	ENST00000284987.5																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	72						c.(610-612)ccG>ccA		ADAM metallopeptidase with thrombospondin type 1 motif, 5							10	13	12					21																	28338099		2182	4263	6445	SO:0001819	synonymous_variant	11096				proteolysis	proteinaceous extracellular matrix	integrin binding|metalloendopeptidase activity|zinc ion binding	g.chr21:28338099C>T	AF142099	CCDS13579.1	21q21.3	2008-07-31	2008-07-31		ENSG00000154736	ENSG00000154736		"ADAM metallopeptidases with thrombospondin type 1 motif"	221	protein-coding gene	gene with protein product	"aggrecanase-2"	605007	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 5 (aggrecanase-2)"			10438522	Standard	NM_007038		Approved	ADMP-2, ADAMTS11	uc002ymg.3	Q9UNA0	OTTHUMG00000078686	ENST00000284987.5:c.612G>A	21.37:g.28338099C>T							p.P204P	NM_007038.3	NP_008969.2	Q9UNA0	ATS5_HUMAN			1	733	-			204					Q52LV4|Q9UKP2	Silent	SNP	ENST00000284987.5	37	c.612G>A	CCDS13579.1																																																																																				0.716	ADAMTS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171648.1			4	6	0	0	0	1	0	4	6					T	28338099	C	T	28338099	2	4	357	1	0	0	0	0	0	0	0	1	269	755	27	1		1	ADAMTS5	21	28338099	Silent	SNP	C	TCGA-M7-A725-01A-12D-A32B-08		28338099	19791796	40	17893											
C21orf63	59271	broad.mit.edu	37	chr21	33887452	33887452	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	attcaggaaatatggatgaaCagtggtttggacacctcgct	12	11	11	7	1	1	1	1	1	0	0	2	4	1	4	1	4	1	2	1	4	3	3			TCGA-M7-A725-01A-12D-A32B-08	TCGA-M7-A725-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc15245-4b29-4381-929e-2e40cf170982	9b19febe-309d-4958-8102-f0fc7490dabb	g.chr21:33887452C>T	ENST00000300255.2	+	8	1751	c.1278C>T	c.(1276-1278)aaC>aaT	p.N426N	EVA1C_ENST00000485488.1_3'UTR|EVA1C_ENST00000382699.3_Silent_p.N423N|EVA1C_ENST00000401402.3_Silent_p.N378N	NM_058187.3	NP_478067.2	P58658	EVA1C_HUMAN	eva-1 homolog C (C. elegans)	426						integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)										TATGGATGAACAGTGGTTTGG	0.463																																						ENST00000300255.2																			0											c.(1276-1278)aaC>aaT		eva-1 homolog C (C. elegans)							117	121	120					21																	33887452		2203	4300	6503	SO:0001819	synonymous_variant	59271							g.chr21:33887452C>T	AF358258	CCDS13614.1, CCDS68186.1	21q22.11	2012-11-05	2012-11-05	2012-11-05	ENSG00000166979	ENSG00000166979			13239	protein-coding gene	gene with protein product			"chromosome 21 open reading frame 64", "chromosome 21 open reading frame 63", "family with sequence similarity 176, member C"	C21orf64, C21orf63, FAM176C		11707072, 19470522	Standard	NM_058187		Approved	B18, PRED34, B19	uc002ypr.1	P58658	OTTHUMG00000064922	ENST00000300255.2:c.1278C>T	21.37:g.33887452C>T						EVA1C_ENST00000382699.3_Silent_p.N423N|EVA1C_ENST00000401402.3_Silent_p.N378N|EVA1C_ENST00000485488.1_3'UTR	p.N426N	NM_058187.3	NP_478067.2					8	1751	+								A6ND58|Q8IXZ0	Silent	SNP	ENST00000300255.2	37	c.1278C>T	CCDS13614.1																																																																																				0.463	EVA1C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000139403.1	NM_058187		5	89	0	0	0	1	0	5	89					T	33887452	C	T	33887452	2	4	357	1	0	0	0	0	0	0	0	1	2131	477	17	3		3	C21orf63	21	33887452	Silent	SNP	C	TCGA-M7-A725-01A-12D-A32B-08	5549353	33887452	14242443	41	17894											
PI4KA	5297	broad.mit.edu	37	chr22	21172825	21172825	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	actgggagggggcatgccgcGttcagggctgacctgaaaca	9	6	16	10	2	1	2	1	2	0	0	1	3	1	3	2	4	2	3	2	4	1	1			TCGA-M7-A725-01A-12D-A32B-08	TCGA-M7-A725-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc15245-4b29-4381-929e-2e40cf170982	9b19febe-309d-4958-8102-f0fc7490dabb	g.chr22:21172825G>A	ENST00000572273.1	-	7	858	c.628C>T	c.(628-630)Cgc>Tgc	p.R210C	PI4KA_ENST00000255882.6_Missense_Mutation_p.R268C			P42356	PI4KA_HUMAN	phosphatidylinositol 4-kinase, catalytic, alpha	210					phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi-associated vesicle membrane (GO:0030660)|membrane (GO:0016020)|plasma membrane (GO:0005886)	1-phosphatidylinositol 4-kinase activity (GO:0004430)|ATP binding (GO:0005524)			breast(3)|endometrium(8)|kidney(9)|large_intestine(19)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|salivary_gland(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	79	all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)			GGCATGCCGCGTTCAGGGCTG	0.498																																					GBM(136;1332 1831 3115 23601 50806)	ENST00000255882.6																			0				breast(3)|endometrium(8)|kidney(9)|large_intestine(19)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|salivary_gland(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	79						c.(802-804)Cgc>Tgc		phosphatidylinositol 4-kinase, catalytic, alpha							55	52	53					22																	21172825		2203	4300	6503	SO:0001583	missense	5297				phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|synaptic transmission	Golgi-associated vesicle	1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding	g.chr22:21172825G>A	L36151	CCDS33603.1, CCDS33603.2	22q11.21	2011-05-25	2007-08-14	2007-08-02	ENSG00000241973	ENSG00000241973			8983	protein-coding gene	gene with protein product		600286		PIK4CA		7961848, 8662589	Standard	NM_002650		Approved	PI4K-ALPHA, pi4K230	uc002zsz.5	P42356	OTTHUMG00000167440	ENST00000572273.1:c.628C>T	22.37:g.21172825G>A	ENSP00000458238:p.Arg210Cys					PI4KA_ENST00000572273.1_Missense_Mutation_p.R210C	p.R268C	NM_058004.3	NP_477352.3	P42356	PI4KA_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)		7	888	-	all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	210					Q7Z625|Q9UPG2	Missense_Mutation	SNP	ENST00000572273.1	37	c.802C>T		.	.	.	.	.	.	.	.	.	.	G	18.07	3.540532	0.65085	.	.	ENSG00000241973	ENST00000255882	.	.	.	5.16	4.12	0.48240	.	0.255913	0.38217	N	0.001769	T	0.46619	0.1402	N	0.22421	0.69	0.80722	D	1	D;P	0.59767	0.986;0.876	P;B	0.49502	0.613;0.183	T	0.49753	-0.8906	9	0.54805	T	0.06	-12.1546	14.2595	0.66076	0.0733:0.0:0.9267:0.0	.	268;210	D3DX33;P42356	.;PI4KA_HUMAN	C	210	.	ENSP00000255882:R210C	R	-	1	0	PI4KA	19502825	1.000000	0.71417	0.995000	0.50966	0.948000	0.59901	5.252000	0.65445	2.678000	0.91216	0.563000	0.77884	CGC		0.498	PI4KA-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_058004		10	3	0	0	0	1	0	10	3					A	21172825	G	A	21172825	3	1	357	1	0	0	0	0	1	0	0	0	11873	1145	40	1	5702	1	PI4KA	22	21172825	Missense_Mutation	SNP	G	TCGA-M7-A725-01A-12D-A32B-08		21172825	30131741	42	17895											
YY2	404281	broad.mit.edu	37	chrX	21875524	21875524	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	accagctggtccacaccggcGagaagccctttcagtgcaca	10	6	10	15	2	1	1	1	0	0	1	2	2	2	1	4	2	3	2	4	2	1	1			TCGA-M7-A725-01A-12D-A32B-08	TCGA-M7-A725-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc15245-4b29-4381-929e-2e40cf170982	9b19febe-309d-4958-8102-f0fc7490dabb	g.chrX:21875524G>A	ENST00000429584.2	+	1	1420	c.922G>A	c.(922-924)Gag>Aag	p.E308K	MBTPS2_ENST00000365779.2_Intron|MBTPS2_ENST00000465888.1_3'UTR|MBTPS2_ENST00000379484.5_Intron	NM_206923.3	NP_996806.2	O15391	TYY2_HUMAN	YY2 transcription factor	308	Mediates transcriptional repression.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|skin(2)	19						CCACACCGGCGAGAAGCCCTT	0.542																																						ENST00000429584.2																			0				breast(2)|endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|skin(2)	19						c.(922-924)Gag>Aag		YY2 transcription factor							176	174	175					X																	21875524		2203	4300	6503	SO:0001583	missense	404281				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|plasma membrane	DNA binding|zinc ion binding	g.chrX:21875524G>A	AK091850	CCDS14202.1	Xp22.2-p22.1	2011-02-11			ENSG00000230797	ENSG00000230797		"Zinc fingers, C2H2-type"	31684	protein-coding gene	gene with protein product	"transcription factor yin yang 2"	300570				14702039	Standard	NM_206923		Approved	ZNF631	uc011mjp.2	O15391	OTTHUMG00000021236	ENST00000429584.2:c.922G>A	X.37:g.21875524G>A	ENSP00000389381:p.Glu308Lys					MBTPS2_ENST00000379484.5_Intron|MBTPS2_ENST00000365779.2_Intron|MBTPS2_ENST00000465888.1_3'UTR	p.E308K	NM_206923.3	NP_996806.2	O15391	TYY2_HUMAN			1	1420	+			308			Mediates transcriptional repression.		B2RP10|Q6Q1S4	Missense_Mutation	SNP	ENST00000429584.2	37	c.922G>A	CCDS14202.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.972962	0.74246	.	.	ENSG00000230797	ENST00000429584	T	0.24350	1.86	4.6	4.6	0.57074	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	U	0.000000	T	0.38585	0.1046	L	0.28400	0.85	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.25293	-1.0136	10	0.72032	D	0.01	.	14.034	0.64634	0.0:0.0:1.0:0.0	.	308	O15391	TYY2_HUMAN	K	308	ENSP00000389381:E308K	ENSP00000389381:E308K	E	+	1	0	YY2	21785445	1.000000	0.71417	0.998000	0.56505	0.029000	0.11900	9.657000	0.98554	2.276000	0.75962	0.544000	0.68410	GAG		0.542	YY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056025.1	NM_206923		121	19	0	0	0	1	0	121	19					A	21875524	G	A	21875524	3	1	357	1	0	0	0	0	1	0	0	0	17506	1059	37	2	924	2	YY2	23	21875524	Missense_Mutation	SNP	G	TCGA-M7-A725-01A-12D-A32B-08		21875524	133395036	43	17896											
CD40LG	959	broad.mit.edu	37	chrX	135730414	135730414	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aactttaacacagcatgatcGaaacatacaaccaaacttct	18	9	3	11	1	1	1	0	1	1	0	2	2	1	1	1	0	7	1	1	0	6	4			TCGA-M7-A725-01A-12D-A32B-08	TCGA-M7-A725-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc15245-4b29-4381-929e-2e40cf170982	9b19febe-309d-4958-8102-f0fc7490dabb	g.chrX:135730414G>A	ENST00000370629.2	+	1	63	c.7G>A	c.(7-9)Gaa>Aaa	p.E3K	CD40LG_ENST00000370628.2_Missense_Mutation_p.E3K	NM_000074.2	NP_000065.1	P29965	CD40L_HUMAN	CD40 ligand	3					B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|immunoglobulin secretion (GO:0048305)|inflammatory response (GO:0006954)|isotype switching (GO:0045190)|leukocyte cell-cell adhesion (GO:0007159)|negative regulation of apoptotic process (GO:0043066)|platelet activation (GO:0030168)|positive regulation of endothelial cell apoptotic process (GO:2000353)|positive regulation of interleukin-12 production (GO:0032735)|regulation of immune response (GO:0050776)|regulation of immunoglobulin secretion (GO:0051023)	external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	CD40 receptor binding (GO:0005174)	p.E3K(1)		endometrium(1)|kidney(1)|large_intestine(8)|lung(14)|skin(1)|stomach(1)	26	Acute lymphoblastic leukemia(192;0.000127)					CAGCATGATCGAAACATACAA	0.433									Immune Deficiency with Hyper-IgM																													ENST00000370629.2																			1	Substitution - Missense(1)	p.E3K(1)	large_intestine(1)	endometrium(1)|kidney(1)|large_intestine(8)|lung(14)|skin(1)|stomach(1)	26						c.(7-9)Gaa>Aaa		CD40 ligand	Atorvastatin(DB01076)						137	124	128					X																	135730414		2203	4300	6503	SO:0001583	missense	959	Immune Deficiency with Hyper-IgM	Familial Cancer Database	Hypogammaglobulinemia with Hyper-IgM, HIGM type I-V, XLHIGM	anti-apoptosis|B cell proliferation|inflammatory response|isotype switching|leukocyte cell-cell adhesion|platelet activation|positive regulation of endothelial cell apoptosis|positive regulation of interleukin-12 production	extracellular space|integral to plasma membrane|soluble fraction	CD40 receptor binding|cytokine activity|tumor necrosis factor receptor binding	g.chrX:135730414G>A	X67878	CCDS14659.1	Xq26	2014-09-17	2008-08-01	2005-01-14	ENSG00000102245	ENSG00000102245		"Tumor necrosis factor (ligand) superfamily", "CD molecules", "Endogenous ligands"	11935	protein-coding gene	gene with protein product	"CD40 antigen ligand", "tumor necrosis factor (ligand) superfamily member 5", "T-B cell-activating molecule", "TNF-related activation protein", "hyper-IgM syndrome"	300386	"tumor necrosis factor (ligand) superfamily, member 5 (hyper-IgM syndrome)"	HIGM1, IMD3, TNFSF5		1427881, 7678782	Standard	NM_000074		Approved	CD40L, TRAP, gp39, hCD40L, CD154	uc004faa.3	P29965	OTTHUMG00000022512	ENST00000370629.2:c.7G>A	X.37:g.135730414G>A	ENSP00000359663:p.Glu3Lys					CD40LG_ENST00000370628.2_Missense_Mutation_p.E3K	p.E3K	NM_000074.2	NP_000065.1	P29965	CD40L_HUMAN			1	63	+	Acute lymphoblastic leukemia(192;0.000127)		3						Missense_Mutation	SNP	ENST00000370629.2	37	c.7G>A	CCDS14659.1	.	.	.	.	.	.	.	.	.	.	g	21.5	4.154523	0.78114	.	.	ENSG00000102245	ENST00000370629;ENST00000370628	T;T	0.77489	-1.1;-1.1	5.8	5.8	0.92144	.	0.344005	0.31859	N	0.006959	T	0.75287	0.3829	L	0.34521	1.04	0.34421	D	0.697487	D;D	0.69078	0.991;0.997	P;P	0.49752	0.468;0.621	D	0.83885	0.0281	10	0.87932	D	0	0.2024	14.2294	0.65882	0.0:0.0:1.0:0.0	.	3;3	Q3L8U2;P29965	.;CD40L_HUMAN	K	3	ENSP00000359663:E3K;ENSP00000359662:E3K	ENSP00000359662:E3K	E	+	1	0	CD40LG	135558080	1.000000	0.71417	1.000000	0.80357	0.845000	0.48019	5.704000	0.68347	2.434000	0.82447	0.597000	0.82753	GAA		0.433	CD40LG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058501.1	NM_000074		48	11	0	0	0	1	0	48	11					A	135730414	G	A	135730414	3	1	357	1	0	0	0	0	1	0	0	0	3016	1059	37	2	9	2	CD40LG	23	135730414	Missense_Mutation	SNP	G	TCGA-M7-A725-01A-12D-A32B-08	113854890	135730414	19540146	44	17897											
PTPRN	5798	broad.mit.edu	37	chr2	220166408	220166408	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagctctaccccatagcccGccagcacagcggccagcctc	8	4	9	20	2	1	0	0	0	1	0	2	0	1	0	6	1	6	3	6	1	2	2	rs139651840	byFrequency	TCGA-MG-AAMC-01A-11D-A41K-08	TCGA-MG-AAMC-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	def5beb7-82b8-4e1d-b7ba-6af748d690cb	c0828412-45cb-4358-b5e6-d0e1543d9cf0	g.chr2:220166408G>A	ENST00000295718.2	-	7	1268	c.1028C>T	c.(1027-1029)gCg>gTg	p.A343V	PTPRN_ENST00000409251.3_Missense_Mutation_p.A343V|AC114803.3_ENST00000417355.1_RNA|PTPRN_ENST00000423636.2_Missense_Mutation_p.A253V	NM_002846.3	NP_002837.1	Q16849	PTPRN_HUMAN	protein tyrosine phosphatase, receptor type, N	343					cytokine-mediated signaling pathway (GO:0019221)|peptidyl-tyrosine dephosphorylation (GO:0035335)|response to cAMP (GO:0051591)|response to estrogen (GO:0043627)|response to glucose (GO:0009749)|response to insulin (GO:0032868)|response to reactive oxygen species (GO:0000302)	integral component of plasma membrane (GO:0005887)	spectrin binding (GO:0030507)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(3)|prostate(4)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Renal(207;0.0474)		Epithelial(149;4.22e-07)|all cancers(144;8.82e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)|STAD - Stomach adenocarcinoma(1183;0.0875)		CCCATAGCCCGCCAGCACAGC	0.612													G|||	6	0.00119808	0.0045	0	5008	,	,		17983	0		0	False		,,,				2504	0					ENST00000295718.2																			0				breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(3)|prostate(4)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						c.(1027-1029)gCg>gTg		protein tyrosine phosphatase, receptor type, N		G	VAL/ALA,VAL/ALA,VAL/ALA	15,4391	22.3+/-47.3	0,15,2188	24	27	26		1028,758,1028	4.4	0.4	2	dbSNP_134	26	0,8600		0,0,4300	yes	missense,missense,missense	PTPRN	NM_001199763.1,NM_001199764.1,NM_002846.3	64,64,64	0,15,6488	AA,AG,GG		0.0,0.3404,0.1153	probably-damaging,probably-damaging,probably-damaging	343/951,253/890,343/980	220166408	15,12991	2203	4300	6503	SO:0001583	missense	5798				response to reactive oxygen species	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity	g.chr2:220166408G>A		CCDS2440.1, CCDS56167.1, CCDS56168.1	2q35-q36.1	2011-06-09			ENSG00000054356	ENSG00000054356		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"	9676	protein-coding gene	gene with protein product		601773				8024693	Standard	NM_001199763		Approved	IA-2	uc002vkz.3	Q16849	OTTHUMG00000133129	ENST00000295718.2:c.1028C>T	2.37:g.220166408G>A	ENSP00000295718:p.Ala343Val					PTPRN_ENST00000409251.3_Missense_Mutation_p.A343V|PTPRN_ENST00000423636.2_Missense_Mutation_p.A253V|AC114803.3_ENST00000417355.1_RNA	p.A343V	NM_002846.3	NP_002837.1	Q16849	PTPRN_HUMAN		Epithelial(149;4.22e-07)|all cancers(144;8.82e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)|STAD - Stomach adenocarcinoma(1183;0.0875)	7	1268	-		Renal(207;0.0474)	343					B4DK12|F5GZS3|Q08319|Q53QD6|Q6NSL1	Missense_Mutation	SNP	ENST00000295718.2	37	c.1028C>T	CCDS2440.1	.	.	.	.	.	.	.	.	.	.	G	15.51	2.855986	0.51376	0.003404	0.0	ENSG00000054356	ENST00000409251;ENST00000295718;ENST00000539342;ENST00000537666	T;T;T	0.26223	1.75;1.75;1.75	5.32	4.45	0.53987	.	0.336628	0.25055	N	0.033492	T	0.28034	0.0691	L	0.27053	0.805	0.27332	N	0.956743	P;D	0.76494	0.84;0.999	B;P	0.53450	0.06;0.726	T	0.05784	-1.0864	10	0.48119	T	0.1	.	11.8144	0.52202	0.0821:0.0:0.9179:0.0	.	343;343	Q6NSL1;Q16849	.;PTPRN_HUMAN	V	343;343;343;253	ENSP00000386638:A343V;ENSP00000295718:A343V;ENSP00000444244:A253V	ENSP00000295718:A343V	A	-	2	0	PTPRN	219874652	1.000000	0.71417	0.416000	0.26546	0.072000	0.16883	3.827000	0.55745	1.240000	0.43803	0.561000	0.74099	GCG		0.612	PTPRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256819.2			17	36	0	0	0	1	0	17	36					A	220166408	G	A	220166408	3	1	358	1	0	0	0	0	1	0	0	0	12807	1087	38	1	1979	1	PTPRN	2	220166408	Missense_Mutation	SNP	G	TCGA-MG-AAMC-01A-11D-A41K-08		220166408	23032965	1	17898											
SETD2	29072	broad.mit.edu	37	chr3	47125274	47125274	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttatatccactgttttatctGgctgttcttggctcctttca	5	20	6	10	0	3	0	1	0	2	0	5	0	5	0	2	2	0	4	2	2	3	7			TCGA-MG-AAMC-01A-11D-A41K-08	TCGA-MG-AAMC-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	def5beb7-82b8-4e1d-b7ba-6af748d690cb	c0828412-45cb-4358-b5e6-d0e1543d9cf0	g.chr3:47125274G>C	ENST00000409792.3	-	12	6038	c.5996C>G	c.(5995-5997)cCa>cGa	p.P1999R	SETD2_ENST00000492397.1_5'UTR	NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2	1999					angiogenesis (GO:0001525)|cell migration involved in vasculogenesis (GO:0035441)|coronary vasculature morphogenesis (GO:0060977)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic placenta morphogenesis (GO:0060669)|forebrain development (GO:0030900)|histone H3-K36 trimethylation (GO:0097198)|mesoderm morphogenesis (GO:0048332)|mismatch repair (GO:0006298)|morphogenesis of a branching structure (GO:0001763)|neural tube closure (GO:0001843)|nucleosome organization (GO:0034728)|pericardium development (GO:0060039)|regulation of mRNA export from nucleus (GO:0010793)|regulation of transcription, DNA-templated (GO:0006355)|stem cell development (GO:0048864)|transcription elongation from RNA polymerase II promoter (GO:0006368)	chromosome (GO:0005694)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)			breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		TGTTTTATCTGGCTGTTCTTG	0.413			"N, F, S, Mis"		clear cell renal carcinoma																																	ENST00000409792.3				Rec	yes		3	3p21.31	29072	"N, F, S, Mis"	SET domain containing 2			E			clear cell renal carcinoma		0				breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141						c.(5995-5997)cCa>cGa		SET domain containing 2							235	212	220					3																	47125274		2203	4300	6503	SO:0001583	missense	29072				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding	g.chr3:47125274G>C	AJ238403	CCDS2749.2	3p21.31	2014-09-17			ENSG00000181555	ENSG00000181555		"Chromatin-modifying enzymes / K-methyltransferases"	18420	protein-coding gene	gene with protein product		612778				16118227, 11461154	Standard	NM_014159		Approved	HYPB, HIF-1, KIAA1732, FLJ23184, KMT3A	uc003cqs.3	Q9BYW2	OTTHUMG00000133514	ENST00000409792.3:c.5996C>G	3.37:g.47125274G>C	ENSP00000386759:p.Pro1999Arg					SETD2_ENST00000492397.1_5'UTR	p.P1999R	NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)	12	6038	-		Acute lymphoblastic leukemia(5;0.0169)	1999					O75397|O75405|Q17RW8|Q5BKS9|Q5QGN2|Q69YI5|Q6IN64|Q6ZN53|Q6ZS25|Q8N3R0|Q8TCN0|Q9C0D1|Q9H696|Q9NZW9	Missense_Mutation	SNP	ENST00000409792.3	37	c.5996C>G	CCDS2749.2	.	.	.	.	.	.	.	.	.	.	G	14.40	2.524853	0.44969	.	.	ENSG00000181555	ENST00000451092;ENST00000409792	T	0.21734	1.99	5.59	5.59	0.84812	.	0.233852	0.30356	N	0.009820	T	0.28962	0.0719	L	0.29908	0.895	0.29012	N	0.886781	D;P	0.53312	0.959;0.915	P;B	0.52598	0.703;0.374	T	0.02789	-1.1110	10	0.45353	T	0.12	.	19.5917	0.95518	0.0:0.0:1.0:0.0	.	1999;1999	F2Z317;Q9BYW2	.;SETD2_HUMAN	R	1999	ENSP00000386759:P1999R	ENSP00000386759:P1999R	P	-	2	0	SETD2	47100278	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.315000	0.59172	2.614000	0.88457	0.650000	0.86243	CCA		0.413	SETD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257479.2	NM_014159		68	108	0	0	0	1	0	68	108					C	47125274	G	C	47125274	3	2	358	1	0	0	0	0	1	0	0	0	14131	1348	47	5	1738	5	SETD2	3	47125274	Missense_Mutation	SNP	G	TCGA-MG-AAMC-01A-11D-A41K-08		47125274	150897156	2	17899											
CD200R1	131450	broad.mit.edu	37	chr3	112644012	112644012	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aggatgatatatggaatataTaattttgctgattttttggc	12	18	9	2	0	0	2	0	2	0	0	0	4	0	4	0	3	1	1	0	3	6	10			TCGA-MG-AAMC-01A-11D-A41K-08	TCGA-MG-AAMC-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	def5beb7-82b8-4e1d-b7ba-6af748d690cb	c0828412-45cb-4358-b5e6-d0e1543d9cf0	g.chr3:112644012T>A	ENST00000471858.1	-	5	961	c.729A>T	c.(727-729)ttA>ttT	p.L243F	CD200R1_ENST00000308611.3_Missense_Mutation_p.L266F|CD200R1_ENST00000295863.4_Intron	NM_170780.2	NP_740750.1	Q8TD46	MO2R1_HUMAN	CD200 receptor 1	243					regulation of immune response (GO:0050776)|viral process (GO:0016032)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	26						ATGGAATATATAATTTTGCTG	0.299																																						ENST00000471858.1																			0				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	26						c.(727-729)ttA>ttT		CD200 receptor 1							51	56	55					3																	112644012		2203	4298	6501	SO:0001583	missense	131450				interspecies interaction between organisms|regulation of immune response	extracellular region|integral to membrane|plasma membrane	receptor activity	g.chr3:112644012T>A	AK126349	CCDS2969.1, CCDS2970.1, CCDS46889.1, CCDS54623.1	3q13	2014-05-15	2004-08-31	2004-09-01	ENSG00000163606	ENSG00000163606		"Immunoglobulin superfamily / C2-set domain containing"	24235	protein-coding gene	gene with protein product		607546	"MOX2 receptor"	MOX2R		10981966, 11133863	Standard	NM_138806		Approved	OX2R, HCRTR2, CD200R	uc003dzj.1	Q8TD46	OTTHUMG00000159298	ENST00000471858.1:c.729A>T	3.37:g.112644012T>A	ENSP00000418928:p.Leu243Phe					CD200R1_ENST00000295863.4_Intron|CD200R1_ENST00000308611.3_Missense_Mutation_p.L266F	p.L243F	NM_170780.2	NP_740750.1	Q8TD46	MO2R1_HUMAN			5	961	-			243					B3KWZ9|E9PCM9|Q52LJ7|Q6IS95|Q6UW94|Q6WHB8|Q8TD44|Q8TD45|Q8TD52	Missense_Mutation	SNP	ENST00000471858.1	37	c.729A>T	CCDS2970.1	.	.	.	.	.	.	.	.	.	.	T	12.73	2.025755	0.35701	.	.	ENSG00000163606	ENST00000471858;ENST00000308611	T;T	0.18502	2.23;2.21	4.26	-3.07	0.05363	.	1.263890	0.05901	N	0.630039	T	0.19725	0.0474	M	0.73962	2.25	0.09310	N	1	P;P	0.45011	0.764;0.848	B;P	0.44359	0.261;0.447	T	0.21827	-1.0234	10	0.48119	T	0.1	.	0.9234	0.01320	0.1554:0.2804:0.1604:0.4038	.	243;266	Q8TD46;Q8TD46-4	MO2R1_HUMAN;.	F	243;266	ENSP00000418928:L243F;ENSP00000311035:L266F	ENSP00000311035:L266F	L	-	3	2	CD200R1	114126702	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-1.282000	0.02799	-0.647000	0.05444	-0.264000	0.10439	TTA		0.299	CD200R1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354467.1	NM_138806		15	30	0	0	0	1	0	15	30					A	112644012	T	A	112644012	3	1	358	1	0	0	0	0	1	0	0	0	2981	1403	49	5	260	5	CD200R1	3	112644012	Missense_Mutation	SNP	T	TCGA-MG-AAMC-01A-11D-A41K-08	65518738	112644012	85378418	3	17900											
SLCO2A1	6578	broad.mit.edu	37	chr3	133664084	133664084	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgcggcaggcaggagactgcGgatgtatagaacttgatgtg	10	9	16	6	2	0	3	0	1	0	2	0	5	0	4	0	4	3	3	0	4	3	3	rs147644142	byFrequency	TCGA-MG-AAMC-01A-11D-A41K-08	TCGA-MG-AAMC-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	def5beb7-82b8-4e1d-b7ba-6af748d690cb	c0828412-45cb-4358-b5e6-d0e1543d9cf0	g.chr3:133664084G>T	ENST00000310926.4	-	10	1589	c.1316C>A	c.(1315-1317)cCg>cAg	p.P439Q	SLCO2A1_ENST00000493729.1_Missense_Mutation_p.P363Q	NM_005630.2	NP_005621.2	Q92959	SO2A1_HUMAN	solute carrier organic anion transporter family, member 2A1	439	Kazal-like. {ECO:0000255|PROSITE- ProRule:PRU00798}.				lipid transport (GO:0006869)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	lipid transporter activity (GO:0005319)|prostaglandin transmembrane transporter activity (GO:0015132)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(2)|stomach(2)	30					Alprostadil(DB00770)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Furosemide(DB00695)|Iloprost(DB01088)|Phenobarbital(DB01174)|Pyruvic acid(DB00119)	AGGAGACTGCGGATGTATAGA	0.532																																						ENST00000310926.4																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(2)|stomach(2)	30						c.(1315-1317)cCg>cAg		solute carrier organic anion transporter family, member 2A1							117	127	124					3																	133664084		2203	4300	6503	SO:0001583	missense	6578				sodium-independent organic anion transport	integral to plasma membrane|membrane fraction	prostaglandin transmembrane transporter activity|protein binding	g.chr3:133664084G>T		CCDS3084.1	3q21	2013-05-22	2003-11-25	2003-11-26	ENSG00000174640	ENSG00000174640		"Solute carriers"	10955	protein-coding gene	gene with protein product		601460	"solute carrier family 21 (prostaglandin transporter), member 2", "matrin F/G 1"	SLC21A2, MATR1		8787677, 9618293	Standard	NM_005630		Approved	PGT, OATP2A1	uc003eqa.4	Q92959	OTTHUMG00000159745	ENST00000310926.4:c.1316C>A	3.37:g.133664084G>T	ENSP00000311291:p.Pro439Gln					SLCO2A1_ENST00000493729.1_Missense_Mutation_p.P363Q	p.P439Q	NM_005630.2	NP_005621.2	Q92959	SO2A1_HUMAN			10	1589	-			439			Kazal-like.		Q86V98|Q8IUN2	Missense_Mutation	SNP	ENST00000310926.4	37	c.1316C>A	CCDS3084.1	.	.	.	.	.	.	.	.	.	.	G	7.619	0.676464	0.14841	.	.	ENSG00000174640	ENST00000310926;ENST00000493729	T;T	0.37411	1.2;1.2	5.63	1.71	0.24356	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.811849	0.11321	N	0.576002	T	0.27349	0.0671	N	0.11818	0.18	0.09310	N	0.999997	B;B;P	0.52170	0.083;0.058;0.951	B;B;P	0.57548	0.046;0.042;0.823	T	0.13335	-1.0513	10	0.17369	T	0.5	.	2.6018	0.04868	0.1653:0.1292:0.5013:0.2042	.	258;363;439	B7Z8J8;E7EU40;Q92959	.;.;SO2A1_HUMAN	Q	439;363	ENSP00000311291:P439Q;ENSP00000418893:P363Q	ENSP00000311291:P439Q	P	-	2	0	SLCO2A1	135146774	0.205000	0.23458	0.039000	0.18376	0.918000	0.54935	0.298000	0.19120	0.751000	0.32900	0.491000	0.48974	CCG		0.532	SLCO2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357131.1	NM_005630		16	124	1	0	6.94344e-10	1	7.5561e-10	16	124					T	133664084	G	T	133664084	3	4	358	1	0	0	0	0	1	0	0	0	14726	1116	39	5	635	5	SLCO2A1	3	133664084	Missense_Mutation	SNP	G	TCGA-MG-AAMC-01A-11D-A41K-08	21020072	133664084	64358346	4	17901											
GPR125	166647	broad.mit.edu	37	chr4	22390725	22390725	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	actcactagggtgcgtttggCcgactgccgtaattcttaat	8	13	10	10	3	2	0	1	0	1	0	2	1	2	0	2	2	2	2	2	2	3	5			TCGA-MG-AAMC-01A-11D-A41K-08	TCGA-MG-AAMC-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	def5beb7-82b8-4e1d-b7ba-6af748d690cb	c0828412-45cb-4358-b5e6-d0e1543d9cf0	g.chr4:22390725C>T	ENST00000334304.5	-	18	2978	c.2709G>A	c.(2707-2709)cgG>cgA	p.R903R	GPR125_ENST00000282943.5_5'UTR	NM_145290.3	NP_660333.2	Q8IWK6	GP125_HUMAN	G protein-coupled receptor 125	903					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)	G-protein coupled receptor activity (GO:0004930)	p.R903R(1)		breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(33)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	56		Breast(46;0.198)				GTGCGTTTGGCCGACTGCCGT	0.418																																						ENST00000334304.5																			1	Substitution - coding silent(1)	p.R903R(1)	lung(1)	breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(33)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	56						c.(2707-2709)cgG>cgA		G protein-coupled receptor 125							206	217	213					4																	22390725		2203	4300	6503	SO:0001819	synonymous_variant	166647				neuropeptide signaling pathway	integral to membrane	G-protein coupled receptor activity	g.chr4:22390725C>T	AK095866	CCDS33964.1	4p15.31	2014-08-08			ENSG00000152990	ENSG00000152990		"-", "GPCR / Class B : Orphans", "Immunoglobulin superfamily / I-set domain containing"	13839	protein-coding gene	gene with protein product		612303				12565841	Standard	NM_145290		Approved	FLJ38547, PGR21	uc003gqm.2	Q8IWK6	OTTHUMG00000160926	ENST00000334304.5:c.2709G>A	4.37:g.22390725C>T						GPR125_ENST00000282943.5_5'UTR	p.R903R	NM_145290.2	NP_660333.2	Q8IWK6	GP125_HUMAN			18	2978	-		Breast(46;0.198)	903					Q6UXK9|Q86SQ5|Q8TC55	Silent	SNP	ENST00000334304.5	37	c.2709G>A	CCDS33964.1																																																																																				0.418	GPR125-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362960.3			5	185	0	0	0	1	0	5	185					T	22390725	C	T	22390725	2	4	358	1	0	0	0	0	0	0	0	1	6639	726	26	3		3	GPR125	4	22390725	Silent	SNP	C	TCGA-MG-AAMC-01A-11D-A41K-08		22390725	168763551	5	17902											
CMYA5	202333	broad.mit.edu	37	chr5	79028017	79028017	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aagggagaaagggaggcaagTtcatcagtagctgcaatacc	15	6	13	7	0	2	1	2	0	0	1	2	3	2	2	1	3	3	5	1	3	6	3			TCGA-MG-AAMC-01A-11D-A41K-08	TCGA-MG-AAMC-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	def5beb7-82b8-4e1d-b7ba-6af748d690cb	c0828412-45cb-4358-b5e6-d0e1543d9cf0	g.chr5:79028017T>A	ENST00000446378.2	+	2	3460	c.3429T>A	c.(3427-3429)agT>agA	p.S1143R		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	1143					negative regulation of calcineurin-NFAT signaling cascade (GO:0070885)|negative regulation of protein phosphatase type 2B activity (GO:0032513)|regulation of skeletal muscle adaptation (GO:0014733)	costamere (GO:0043034)				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		GGGAGGCAAGTTCATCAGTAG	0.423																																						ENST00000446378.2																			0				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128						c.(3427-3429)agT>agA		cardiomyopathy associated 5							75	72	73					5																	79028017		1949	4144	6093	SO:0001583	missense	202333					perinuclear region of cytoplasm		g.chr5:79028017T>A	AW755254, AL831986	CCDS47238.1	5q14.1	2013-02-11			ENSG00000164309	ENSG00000164309		"Tripartite motif containing / Tripartite motif containing", "A-kinase anchor proteins", "Fibronectin type III domain containing"	14305	protein-coding gene	gene with protein product	"genethonin-3", "tripartite motif-containing 76"	612193	"chromosome 5 open reading frame 10"	C5orf10		14688250	Standard	NM_153610		Approved	myospryn, SPRYD2, DKFZp451G223, TRIM76	uc003kgc.3	Q8N3K9	OTTHUMG00000162548	ENST00000446378.2:c.3429T>A	5.37:g.79028017T>A	ENSP00000394770:p.Ser1143Arg						p.S1143R	NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)	2	3460	+		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)	1143					A0PJB7|Q05CT4|Q2NKX1|Q2T9G9|Q69YQ8|Q69YQ9|Q6P517|Q6P5U3|Q7Z4I1|Q86T34|Q86T49|Q8N3S4|Q8N3S7|Q8NAG8|Q9UK88	Missense_Mutation	SNP	ENST00000446378.2	37	c.3429T>A	CCDS47238.1	.	.	.	.	.	.	.	.	.	.	T	9.041	0.989710	0.18966	.	.	ENSG00000164309	ENST00000446378	T	0.39406	1.08	5.96	3.55	0.40652	.	1.248360	0.05270	N	0.517447	T	0.42177	0.1191	M	0.67953	2.075	0.09310	N	1	B	0.30281	0.275	B	0.25140	0.058	T	0.36866	-0.9730	10	0.72032	D	0.01	.	5.6313	0.17512	0.0:0.164:0.154:0.6819	.	1143	Q8N3K9	CMYA5_HUMAN	R	1143	ENSP00000394770:S1143R	ENSP00000394770:S1143R	S	+	3	2	CMYA5	79063773	0.001000	0.12720	0.001000	0.08648	0.004000	0.04260	0.961000	0.29267	0.495000	0.27882	0.533000	0.62120	AGT		0.423	CMYA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369497.1	NM_153610		5	48	0	0	0	1	0	5	48					A	79028017	T	A	79028017	3	1	358	1	0	0	0	0	1	0	0	0	3590	1722	60	5	3435	5	CMYA5	5	79028017	Missense_Mutation	SNP	T	TCGA-MG-AAMC-01A-11D-A41K-08		79028017	101887243	6	17903											
TMEM173	340061	broad.mit.edu	37	chr5	138857857	138857857	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	actcccctgcacacttacccGctgcccgttctccagaagct	7	9	6	19	2	1	1	0	0	1	1	3	1	2	1	5	0	4	4	5	0	2	2	rs199795457		TCGA-MG-AAMC-01A-11D-A41K-08	TCGA-MG-AAMC-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	def5beb7-82b8-4e1d-b7ba-6af748d690cb	c0828412-45cb-4358-b5e6-d0e1543d9cf0	g.chr5:138857857G>A	ENST00000330794.4	-	6	1090	c.757C>T	c.(757-759)Cgg>Tgg	p.R253W	TMEM173_ENST00000511850.1_5'Flank	NM_198282.2	NP_938023.1	Q86WV6	STING_HUMAN	transmembrane protein 173	253	c-di-GMP-binding domain (CBD).				activation of innate immune response (GO:0002218)|apoptotic process (GO:0006915)|cellular response to exogenous dsRNA (GO:0071360)|cellular response to interferon-beta (GO:0035458)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|interferon-beta production (GO:0032608)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of protein binding (GO:0032092)|positive regulation of protein import into nucleus, translocation (GO:0033160)|positive regulation of transcription factor import into nucleus (GO:0042993)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of type I interferon production (GO:0032479)	cytoplasmic vesicle membrane (GO:0030659)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)|perinuclear region of cytoplasm (GO:0048471)|peroxisome (GO:0005777)|plasma membrane (GO:0005886)	cyclic-di-GMP binding (GO:0035438)|cyclic-GMP-AMP binding (GO:0061507)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|transcription factor binding (GO:0008134)			endometrium(1)|kidney(1)|lung(6)|upper_aerodigestive_tract(1)	9			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			ACACTTACCCGCTGCCCGTTC	0.577													G|||	1	0.000199681	8e-04	0	5008	,	,		18364	0		0	False		,,,				2504	0					ENST00000330794.4																			0				endometrium(1)|kidney(1)|lung(6)|upper_aerodigestive_tract(1)	9						c.(757-759)Cgg>Tgg		transmembrane protein 173		G	TRP/ARG	0,4406		0,0,2203	95	100	98		757	3.7	0.3	5		98	1,8599	1.2+/-3.3	0,1,4299	yes	missense	TMEM173	NM_198282.2	101	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	253/380	138857857	1,13005	2203	4300	6503	SO:0001583	missense	340061				activation of innate immune response|apoptosis|cellular response to exogenous dsRNA|defense response to virus|innate immune response|interferon-beta production|positive regulation of defense response to virus by host|positive regulation of protein binding|positive regulation of protein import into nucleus, translocation|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter	endoplasmic reticulum membrane|integral to membrane|mitochondrial outer membrane|perinuclear region of cytoplasm|plasma membrane	protein homodimerization activity|protein kinase binding|transcription factor binding	g.chr5:138857857G>A		CCDS4215.1	5q31.2	2009-11-06			ENSG00000184584	ENSG00000184584			27962	protein-coding gene	gene with protein product		612374				12477932	Standard	XM_005268445		Approved	FLJ38577, NET23	uc003lep.3	Q86WV6	OTTHUMG00000129239	ENST00000330794.4:c.757C>T	5.37:g.138857857G>A	ENSP00000331288:p.Arg253Trp						p.R253W	NM_198282.2	NP_938023.1	Q86WV6	TM173_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)		6	1090	-			253					A8K3P6|B6EB35|D6RBX0|D6RE01|D6RID9	Missense_Mutation	SNP	ENST00000330794.4	37	c.757C>T	CCDS4215.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	20.3	3.974904	0.74360	0.0	1.16E-4	ENSG00000184584	ENST00000330794;ENST00000510817	T;T	0.34472	1.87;1.36	5.67	3.71	0.42584	.	1.133100	0.06456	N	0.728679	T	0.41373	0.1156	L	0.46157	1.445	0.09310	N	1	D	0.71674	0.998	P	0.46975	0.533	T	0.39035	-0.9633	10	0.66056	D	0.02	-4.8775	12.4879	0.55883	0.0:0.0:0.7477:0.2523	.	253	Q86WV6	TM173_HUMAN	W	253	ENSP00000331288:R253W;ENSP00000427455:R253W	ENSP00000331288:R253W	R	-	1	2	TMEM173	138838041	0.006000	0.16342	0.345000	0.25642	0.270000	0.26580	1.496000	0.35638	2.676000	0.91093	0.561000	0.74099	CGG		0.577	TMEM173-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251338.1	NM_198282		39	50	0	0	0	1	0	39	50					A	138857857	G	A	138857857	3	1	358	1	0	0	0	0	1	0	0	0	16086	1086	38	1	394	1	TMEM173	5	138857857	Missense_Mutation	SNP	G	TCGA-MG-AAMC-01A-11D-A41K-08	59829840	138857857	42057403	7	17904											
ATP10B	23120	broad.mit.edu	37	chr5	160063209	160063209	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggagcaggatgatcattgTgaggaacatgtagaagcccc	12	8	13	8	0	1	3	1	2	0	1	1	6	1	6	2	3	3	2	2	3	3	2			TCGA-MG-AAMC-01A-11D-A41K-08	TCGA-MG-AAMC-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	def5beb7-82b8-4e1d-b7ba-6af748d690cb	c0828412-45cb-4358-b5e6-d0e1543d9cf0	g.chr5:160063209T>A	ENST00000327245.5	-	11	1954	c.1108A>T	c.(1108-1110)Aca>Tca	p.T370S	CTC-348L5.1_ENST00000523598.1_RNA	NM_025153.2	NP_079429.2	O94823	AT10B_HUMAN	ATPase, class V, type 10B	370					phospholipid translocation (GO:0045332)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			ATGATCATTGTGAGGAACATG	0.483																																						ENST00000327245.5																			0				NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75						c.(1108-1110)Aca>Tca		ATPase, class V, type 10B							69	68	68					5																	160063209		1896	4116	6012	SO:0001583	missense	23120				ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr5:160063209T>A	AB018258	CCDS43394.1	5q34	2010-04-20	2007-09-19		ENSG00000118322	ENSG00000118322		"ATPases / P-type"	13543	protein-coding gene	gene with protein product			"ATPase, Class V, type 10B"			9872452, 11015572	Standard	NM_025153		Approved	ATPVB, KIAA0715, FLJ21477	uc003lym.1	O94823	OTTHUMG00000163551	ENST00000327245.5:c.1108A>T	5.37:g.160063209T>A	ENSP00000313600:p.Thr370Ser					CTC-348L5.1_ENST00000523598.1_RNA	p.T370S	NM_025153.2	NP_079429.2	O94823	AT10B_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		11	1954	-	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	370					Q9H725	Missense_Mutation	SNP	ENST00000327245.5	37	c.1108A>T	CCDS43394.1	.	.	.	.	.	.	.	.	.	.	T	24.1	4.489288	0.84962	.	.	ENSG00000118322	ENST00000327245	T	0.44482	0.92	5.18	4.01	0.46588	ATPase, P-type, ATPase-associated domain (1);	0.054440	0.64402	N	0.000001	T	0.53094	0.1775	L	0.44542	1.39	0.58432	D	0.999997	D;P;D;D	0.89917	1.0;0.542;1.0;1.0	D;P;D;D	0.97110	1.0;0.58;1.0;0.998	T	0.47222	-0.9134	9	.	.	.	.	10.9856	0.47520	0.1397:0.0:0.0:0.8603	.	414;370;342;370	B4DHG1;O94823-2;O94823-3;O94823	.;.;.;AT10B_HUMAN	S	370	ENSP00000313600:T370S	.	T	-	1	0	ATP10B	159995787	1.000000	0.71417	0.949000	0.38748	0.985000	0.73830	7.946000	0.87746	0.902000	0.36520	-0.531000	0.04308	ACA		0.483	ATP10B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374127.1	NM_025153		20	29	0	0	0	1	0	20	29					A	160063209	T	A	160063209	3	1	358	1	0	0	0	0	1	0	0	0	1117	1696	59	5	3341	5	ATP10B	5	160063209	Missense_Mutation	SNP	T	TCGA-MG-AAMC-01A-11D-A41K-08	21205352	160063209	20852051	8	17905											
AUTS2	26053	broad.mit.edu	37	chr7	69364311	69364311	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctcaggaacgtgtggagaaaCgccagacgcccctgaccaag	12	4	12	13	3	1	3	1	1	0	2	1	5	1	4	4	2	2	0	4	2	3	0	rs142957106	byFrequency	TCGA-MG-AAMC-01A-11D-A41K-08	TCGA-MG-AAMC-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	def5beb7-82b8-4e1d-b7ba-6af748d690cb	c0828412-45cb-4358-b5e6-d0e1543d9cf0	g.chr7:69364311C>T	ENST00000342771.4	+	2	670	c.349C>T	c.(349-351)Cgc>Tgc	p.R117C	AUTS2_ENST00000403018.2_Missense_Mutation_p.R117C|AUTS2_ENST00000406775.2_Missense_Mutation_p.R117C	NM_015570.2	NP_056385.1	Q8WXX7	AUTS2_HUMAN	autism susceptibility candidate 2	117								p.R117C(1)		breast(2)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	50		all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093)		LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186)		TGTGGAGAAACGCCAGACGCC	0.488																																						ENST00000342771.4																			1	Substitution - Missense(1)	p.R117C(1)	breast(1)	breast(2)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	50						c.(349-351)Cgc>Tgc		autism susceptibility candidate 2		C	CYS/ARG,CYS/ARG,CYS/ARG	9,4397	15.5+/-35.6	0,9,2194	94	86	88		349,349,349	4.8	1	7	dbSNP_134	88	0,8600		0,0,4300	yes	missense,missense,missense	AUTS2	NM_001127231.1,NM_001127232.1,NM_015570.2	180,180,180	0,9,6494	TT,TC,CC		0.0,0.2043,0.0692	possibly-damaging,possibly-damaging,possibly-damaging	117/1236,117/267,117/1260	69364311	9,12997	2203	4300	6503	SO:0001583	missense	26053							g.chr7:69364311C>T	AF326917	CCDS5539.1, CCDS47601.1, CCDS47602.1	7q11.22	2014-01-06			ENSG00000158321	ENSG00000158321			14262	protein-coding gene	gene with protein product		607270				12160723	Standard	XM_005250257		Approved	KIAA0442, FBRSL2	uc003tvw.4	Q8WXX7	OTTHUMG00000023865	ENST00000342771.4:c.349C>T	7.37:g.69364311C>T	ENSP00000344087:p.Arg117Cys					AUTS2_ENST00000406775.2_Missense_Mutation_p.R117C|AUTS2_ENST00000403018.2_Missense_Mutation_p.R117C	p.R117C	NM_015570.2	NP_056385.1	Q8WXX7	AUTS2_HUMAN		LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186)	2	670	+		all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093)	117					A4D1Y9|L7QET3|L7QF75|Q5D049|Q6PJU5|Q9Y4F2	Missense_Mutation	SNP	ENST00000342771.4	37	c.349C>T	CCDS5539.1	.	.	.	.	.	.	.	.	.	.	C	16.83	3.230260	0.58777	0.002043	0.0	ENSG00000158321	ENST00000406775;ENST00000342771;ENST00000403018	T;T	0.36520	1.25;1.29	5.65	4.75	0.60458	.	0.216528	0.32608	N	0.005861	T	0.37999	0.1024	N	0.22421	0.69	0.40142	D	0.976844	P;P;D	0.71674	0.956;0.956;0.998	B;B;P	0.53861	0.401;0.401;0.736	T	0.18999	-1.0319	9	.	.	.	-15.6291	16.5834	0.84720	0.0:0.8697:0.1303:0.0	.	117;117;117	Q8WXX7-2;Q8WXX7;Q6PJU5	.;AUTS2_HUMAN;.	C	117	ENSP00000385263:R117C;ENSP00000344087:R117C	.	R	+	1	0	AUTS2	69002247	0.966000	0.33281	1.000000	0.80357	0.997000	0.91878	1.521000	0.35910	1.587000	0.49959	0.655000	0.94253	CGC		0.488	AUTS2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251971.2			27	44	0	0	0	1	0	27	44					T	69364311	C	T	69364311	3	4	358	1	0	0	0	0	1	0	0	0	1225	536	19	1	355	1	AUTS2	7	69364311	Missense_Mutation	SNP	C	TCGA-MG-AAMC-01A-11D-A41K-08		69364311	89774352	9	17906											
AKAP9	10142	broad.mit.edu	37	chr7	91699396	91699396	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aacagacaaatgcagtgagcTtttgctctctaaagagcagc	14	9	9	9	0	1	3	0	1	1	2	2	3	1	3	0	0	6	4	0	0	4	3			TCGA-MG-AAMC-01A-11D-A41K-08	TCGA-MG-AAMC-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	def5beb7-82b8-4e1d-b7ba-6af748d690cb	c0828412-45cb-4358-b5e6-d0e1543d9cf0	g.chr7:91699396T>G	ENST00000359028.2	+	28	6644	c.6419T>G	c.(6418-6420)cTt>cGt	p.L2140R	AKAP9_ENST00000356239.3_Missense_Mutation_p.L2128R|AKAP9_ENST00000358100.2_Missense_Mutation_p.L2140R			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	2140	Glu-rich.				G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|Sertoli cell development (GO:0060009)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)|synaptic transmission (GO:0007268)|transport (GO:0006810)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|pericentriolar material (GO:0000242)|voltage-gated potassium channel complex (GO:0008076)	ion channel binding (GO:0044325)|protein complex scaffold (GO:0032947)|receptor binding (GO:0005102)			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			TGCAGTGAGCTTTTGCTCTCT	0.348			T	BRAF	papillary thyroid																																	ENST00000359028.2				Dom	yes		7	7q21-q22	10142	T	A kinase (PRKA) anchor protein (yotiao) 9			E	BRAF		papillary thyroid		0				NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155						c.(6418-6420)cTt>cGt		A kinase (PRKA) anchor protein 9							103	116	112					7																	91699396		2203	4300	6503	SO:0001583	missense	10142				G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding	g.chr7:91699396T>G	AF091711	CCDS5622.1	7q21-q22	2014-09-17	2013-09-25		ENSG00000127914	ENSG00000127914		"A-kinase anchor proteins", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	379	protein-coding gene	gene with protein product	"A-kinase anchoring protein 450", "AKAP9-BRAF fusion protein", "AKAP120-like protein", "centrosome- and golgi-localized protein kinase N-associated protein", "protein kinase A anchoring protein 9", "A-kinase anchor protein, 350kDa", "protein phosphatase 1, regulatory subunit 45", "yotiao"	604001				9482789, 10390370, 24475373	Standard	NM_147185		Approved	KIAA0803, AKAP350, AKAP450, CG-NAP, YOTIAO, HYPERION, PRKA9, MU-RMS-40.16A, PPP1R45, LQT11	uc003ulg.3	Q99996	OTTHUMG00000131127	ENST00000359028.2:c.6419T>G	7.37:g.91699396T>G	ENSP00000351922:p.Leu2140Arg					AKAP9_ENST00000356239.3_Missense_Mutation_p.L2128R|AKAP9_ENST00000358100.2_Missense_Mutation_p.L2140R	p.L2140R			Q99996	AKAP9_HUMAN	STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)		28	6644	+	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		2140			Glu-rich.		A4D1F0|A4D1F2|A4D1F4|O14869|O43355|O94895|Q75N20|Q9UQH3|Q9UQQ4|Q9Y6B8|Q9Y6Y2	Missense_Mutation	SNP	ENST00000359028.2	37	c.6419T>G		.	.	.	.	.	.	.	.	.	.	T	15.72	2.916279	0.52546	.	.	ENSG00000127914	ENST00000356239;ENST00000359028;ENST00000358100;ENST00000413120	T;T;T	0.05025	3.53;3.52;3.51	5.3	4.06	0.47325	.	0.000000	0.35291	N	0.003309	T	0.24812	0.0602	M	0.81802	2.56	0.49915	D	0.999838	D;D;D	0.89917	0.998;1.0;1.0	D;D;D	0.91635	0.982;0.999;0.995	T	0.01287	-1.1395	10	0.87932	D	0	.	12.1534	0.54062	0.0:0.0:0.1428:0.8572	.	2140;2128;2128	Q99996;Q99996-2;Q99996-3	AKAP9_HUMAN;.;.	R	2128;2140;2140;2140	ENSP00000348573:L2128R;ENSP00000351922:L2140R;ENSP00000350813:L2140R	ENSP00000348573:L2128R	L	+	2	0	AKAP9	91537332	1.000000	0.71417	0.998000	0.56505	0.994000	0.84299	5.372000	0.66156	2.141000	0.66446	0.455000	0.32223	CTT		0.348	AKAP9-202	KNOWN	basic	protein_coding	protein_coding		NM_005751		42	45	0	0	0	1	0	42	45					G	91699396	T	G	91699396	3	3	358	1	0	0	0	0	1	0	0	0	459	1609	56	5	6489	5	AKAP9	7	91699396	Missense_Mutation	SNP	T	TCGA-MG-AAMC-01A-11D-A41K-08	22335085	91699396	67439267	10	17907											
MBLAC1	255374	broad.mit.edu	37	chr7	99725140	99725140	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggcgatgccgtgcgcgccgAcggctccgtgaccctggtcc	3	6	16	16	7	0	1	0	1	0	0	2	3	2	1	5	3	2	1	5	3	0	0			TCGA-MG-AAMC-01A-11D-A41K-08	TCGA-MG-AAMC-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	def5beb7-82b8-4e1d-b7ba-6af748d690cb	c0828412-45cb-4358-b5e6-d0e1543d9cf0	g.chr7:99725140A>C	ENST00000398075.2	+	2	521	c.122A>C	c.(121-123)gAc>gCc	p.D41A	RP11-506M12.1_ENST00000494221.1_RNA	NM_203397.1	NP_981942.1	A4D2B0	MBLC1_HUMAN	metallo-beta-lactamase domain containing 1	41							hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|skin(1)	7						GTGCGCGCCGACGGCTCCGTG	0.746																																						ENST00000398075.2																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|skin(1)	7						c.(121-123)gAc>gCc		metallo-beta-lactamase domain containing 1							9	11	11					7																	99725140		1951	4125	6076	SO:0001583	missense	255374						hydrolase activity|metal ion binding	g.chr7:99725140A>C	BC031288	CCDS43620.1	7q22	2014-02-12	2009-04-08		ENSG00000214309	ENSG00000214309			22180	protein-coding gene	gene with protein product							Standard	XM_005250250		Approved	MGC49416	uc003utp.3	A4D2B0	OTTHUMG00000154846	ENST00000398075.2:c.122A>C	7.37:g.99725140A>C	ENSP00000381150:p.Asp41Ala						p.D41A	NM_203397.1	NP_981942.1	A4D2B0	MBLC1_HUMAN			2	521	+			41					Q8N5X8	Missense_Mutation	SNP	ENST00000398075.2	37	c.122A>C	CCDS43620.1	.	.	.	.	.	.	.	.	.	.	A	16.31	3.088055	0.55968	.	.	ENSG00000214309	ENST00000398075;ENST00000421390	T;T	0.57907	1.06;0.37	4.23	4.23	0.50019	.	0.000000	0.64402	U	0.000020	T	0.42359	0.1199	L	0.29908	0.895	0.34261	D	0.679939	D	0.54047	0.964	P	0.44811	0.461	T	0.60393	-0.7272	10	0.72032	D	0.01	.	9.8943	0.41309	1.0:0.0:0.0:0.0	.	41	A4D2B0	MBLC1_HUMAN	A	41	ENSP00000381150:D41A;ENSP00000406055:D41A	ENSP00000381150:D41A	D	+	2	0	MBLAC1	99563076	0.999000	0.42202	0.849000	0.33467	0.070000	0.16714	3.647000	0.54403	1.913000	0.55393	0.459000	0.35465	GAC		0.746	MBLAC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337353.1	NM_203397		4	5	0	0	0	1	0	4	5					C	99725140	A	C	99725140	3	2	358	1	0	0	0	0	1	0	0	0	9351	275	10	5	124	5	MBLAC1	7	99725140	Missense_Mutation	SNP	A	TCGA-MG-AAMC-01A-11D-A41K-08	8025744	99725140	59413523	11	17908											
ZNF746	155061	broad.mit.edu	37	chr7	149191569	149191569	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctctccatggcctgaatcGtggctgccatcgtccacgga	6	10	10	15	3	1	1	0	1	1	0	6	2	3	2	5	3	1	1	5	3	1	0			TCGA-MG-AAMC-01A-11D-A41K-08	TCGA-MG-AAMC-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	def5beb7-82b8-4e1d-b7ba-6af748d690cb	c0828412-45cb-4358-b5e6-d0e1543d9cf0	g.chr7:149191569G>A	ENST00000340622.3	-	2	330	c.50C>T	c.(49-51)aCg>aTg	p.T17M	ZNF746_ENST00000458143.2_Missense_Mutation_p.T17M|ZNF746_ENST00000461958.2_Missense_Mutation_p.T17M			Q6NUN9	ZN746_HUMAN	zinc finger protein 746	17					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of neuron death (GO:1901216)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34	Melanoma(164;0.165)		OV - Ovarian serous cystadenocarcinoma(82;0.00358)			GGCCTGAATCGTGGCTGCCAT	0.532																																						ENST00000461958.2																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						c.(49-51)aCg>aTg		zinc finger protein 746							60	63	62					7																	149191569		2203	4299	6502	SO:0001583	missense	155061				negative regulation of transcription, DNA-dependent|neuron death|regulation of cell death|transcription, DNA-dependent	cytoplasm|nucleus	transcription regulatory region DNA binding|ubiquitin protein ligase binding|zinc ion binding	g.chr7:149191569G>A	AK055975	CCDS5897.1, CCDS55180.1	7q36.1	2013-01-08			ENSG00000181220	ENSG00000181220		"Zinc fingers, C2H2-type", "-"	21948	protein-coding gene	gene with protein product		613914					Standard	NM_152557		Approved	FLJ31413	uc010lpi.2	Q6NUN9	OTTHUMG00000158972	ENST00000340622.3:c.50C>T	7.37:g.149191569G>A	ENSP00000345140:p.Thr17Met					ZNF746_ENST00000340622.3_Missense_Mutation_p.T17M|ZNF746_ENST00000458143.2_Missense_Mutation_p.T17M	p.T17M			Q6NUN9	ZN746_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00358)		2	246	-	Melanoma(164;0.165)		17					A8K6Z9|Q6ZRF9	Missense_Mutation	SNP	ENST00000340622.3	37	c.50C>T	CCDS5897.1	.	.	.	.	.	.	.	.	.	.	.	19.16	3.773491	0.69992	.	.	ENSG00000181220	ENST00000340622;ENST00000458143;ENST00000461958	T;T	0.10005	2.95;2.92	4.64	4.64	0.57946	.	0.149607	0.30969	N	0.008505	T	0.18676	0.0448	N	0.22421	0.69	0.21762	N	0.999558	D;D	0.89917	0.999;1.0	D;D	0.68353	0.949;0.957	T	0.03025	-1.1081	10	0.87932	D	0	-16.1073	13.0146	0.58749	0.0:0.0:1.0:0.0	.	17;17	Q6NUN9-2;Q6NUN9	.;ZN746_HUMAN	M	17;17;4	ENSP00000345140:T17M;ENSP00000395007:T17M	ENSP00000345140:T17M	T	-	2	0	ZNF746	148822502	0.184000	0.23200	0.703000	0.30354	0.970000	0.65996	2.397000	0.44477	2.119000	0.64992	0.514000	0.50259	ACG		0.532	ZNF746-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000352730.1	NM_152557		14	74	0	0	0	1	0	14	74					A	149191569	G	A	149191569	3	1	358	1	0	0	0	0	1	0	0	0	18126	1145	40	1	1911	1	ZNF746	7	149191569	Missense_Mutation	SNP	G	TCGA-MG-AAMC-01A-11D-A41K-08	49466429	149191569	9947094	12	17909											
DENND3	22898	broad.mit.edu	37	chr8	142202641	142202641	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaggaggagcagctgtgggCggcctgtgcaggacgcagcg	7	5	19	10	3	1	0	1	0	0	0	1	3	1	3	1	5	4	4	1	5	0	0	rs143494640		TCGA-MG-AAMC-01A-11D-A41K-08	TCGA-MG-AAMC-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	def5beb7-82b8-4e1d-b7ba-6af748d690cb	c0828412-45cb-4358-b5e6-d0e1543d9cf0	g.chr8:142202641C>T	ENST00000262585.2	+	22	3553	c.3275C>T	c.(3274-3276)gCg>gTg	p.A1092V	DENND3_ENST00000424248.1_Missense_Mutation_p.A1040V|DENND3_ENST00000523308.1_Missense_Mutation_p.A142V|DENND3_ENST00000519811.1_Missense_Mutation_p.A1172V	NM_014957.2	NP_055772.2	A2RUS2	DEND3_HUMAN	DENN/MADD domain containing 3	1092					cellular protein catabolic process (GO:0044257)|endosome to lysosome transport (GO:0008333)|positive regulation of Rab GTPase activity (GO:0032851)		Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(4)|stomach(2)|urinary_tract(1)	55	all_cancers(97;7.36e-15)|all_epithelial(106;2.33e-13)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.105)			CAGCTGTGGGCGGCCTGTGCA	0.667																																						ENST00000519811.1																			0				breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(4)|stomach(2)|urinary_tract(1)	55						c.(3514-3516)gCg>gTg		DENN/MADD domain containing 3		C	VAL/ALA	2,4404	4.2+/-10.8	0,2,2201	47	52	50		3275	2.7	0.4	8	dbSNP_134	50	1,8599	1.2+/-3.3	0,1,4299	no	missense	DENND3	NM_014957.2	64	0,3,6500	TT,TC,CC		0.0116,0.0454,0.0231	benign	1092/1199	142202641	3,13003	2203	4300	6503	SO:0001583	missense	22898							g.chr8:142202641C>T	AB020677	CCDS34947.1	8q24.3	2013-01-10				ENSG00000105339		"DENN/MADD domain containing", "WD repeat domain containing"	29134	protein-coding gene	gene with protein product						10048485	Standard	NM_014957		Approved	KIAA0870	uc003yvy.3	A2RUS2		ENST00000262585.2:c.3275C>T	8.37:g.142202641C>T	ENSP00000262585:p.Ala1092Val					DENND3_ENST00000523308.1_Missense_Mutation_p.A142V|DENND3_ENST00000262585.2_Missense_Mutation_p.A1092V|DENND3_ENST00000424248.1_Missense_Mutation_p.A1040V	p.A1172V			A2RUS2	DEND3_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.105)		22	3585	+	all_cancers(97;7.36e-15)|all_epithelial(106;2.33e-13)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		1092					B7ZM28|O94947|Q2TAM7|Q6ZMS6|Q96DK3	Missense_Mutation	SNP	ENST00000262585.2	37	c.3515C>T	CCDS34947.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.30|13.30	2.195140|2.195140	0.38806|0.38806	4.54E-4|4.54E-4	1.16E-4|1.16E-4	ENSG00000105339|ENSG00000105339	ENST00000262585;ENST00000424248;ENST00000519811;ENST00000523308|ENST00000520725	T;T;T;T|.	0.38401|.	1.75;1.75;1.75;1.14|.	5.49|5.49	2.71|2.71	0.32032|0.32032	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);|.	0.508551|.	0.23756|.	N|.	0.044877|.	T|T	0.28896|0.28896	0.0717|0.0717	N|N	0.17872|0.17872	0.535|0.535	0.28323|0.28323	N|N	0.922149|0.922149	B;P;B|.	0.44734|.	0.163;0.842;0.095|.	B;B;B|.	0.35931|.	0.015;0.214;0.015|.	T|T	0.22382|0.22382	-1.0218|-1.0218	10|5	0.20046|.	T|.	0.44|.	-27.7715|-27.7715	9.1161|9.1161	0.36758|0.36758	0.0:0.7166:0.0:0.2834|0.0:0.7166:0.0:0.2834	.|.	1172;142;1092|.	E9PF32;A2RUS2-3;A2RUS2|.	.;.;DEND3_HUMAN|.	V|W	1092;1040;1172;142|46	ENSP00000262585:A1092V;ENSP00000410594:A1040V;ENSP00000428714:A1172V;ENSP00000430912:A142V|.	ENSP00000262585:A1092V|.	A|R	+|+	2|1	0|2	DENND3|DENND3	142271823|142271823	0.095000|0.095000	0.21747|0.21747	0.408000|0.408000	0.26446|0.26446	0.890000|0.890000	0.51754|0.51754	0.632000|0.632000	0.24583|0.24583	0.270000|0.270000	0.21984|0.21984	0.561000|0.561000	0.74099|0.74099	GCG|CGG		0.667	DENND3-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_014957		18	25	0	0	0	1	0	18	25					T	142202641	C	T	142202641	3	4	358	1	0	0	0	0	1	0	0	0	4432	768	27	1	3357	1	DENND3	8	142202641	Missense_Mutation	SNP	C	TCGA-MG-AAMC-01A-11D-A41K-08		142202641	4161381	13	17910											
LRRC24	441381	broad.mit.edu	37	chr8	145749890	145749890	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcccgccaggtagagcacgcGcagctgggccaggcctacga	8	3	15	15	4	0	1	0	0	0	1	0	2	0	1	4	3	3	4	4	3	2	2			TCGA-MG-AAMC-01A-11D-A41K-08	TCGA-MG-AAMC-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	def5beb7-82b8-4e1d-b7ba-6af748d690cb	c0828412-45cb-4358-b5e6-d0e1543d9cf0	g.chr8:145749890G>A	ENST00000529415.2	-	3	490	c.373C>T	c.(373-375)Cgc>Tgc	p.R125C	LRRC24_ENST00000533758.1_Missense_Mutation_p.R125C|LRRC14_ENST00000292524.1_3'UTR			Q50LG9	LRC24_HUMAN	leucine rich repeat containing 24	125						integral component of membrane (GO:0016021)				breast(2)|endometrium(1)|kidney(1)|lung(1)	5	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			TAGAGCACGCGCAGCTGGGCC	0.711																																						ENST00000529415.2																			0				breast(2)|endometrium(1)|kidney(1)|lung(1)	5						c.(373-375)Cgc>Tgc		leucine rich repeat containing 24							8	11	10					8																	145749890		1813	3927	5740	SO:0001583	missense	441381					integral to membrane		g.chr8:145749890G>A	AB178281	CCDS34969.1	8q24.3	2013-01-11			ENSG00000254402	ENSG00000254402		"Immunoglobulin superfamily / I-set domain containing"	28947	protein-coding gene	gene with protein product						7584026	Standard	NM_001024678		Approved	LRRC14OS	uc003zdm.3	Q50LG9	OTTHUMG00000165180	ENST00000529415.2:c.373C>T	8.37:g.145749890G>A	ENSP00000434849:p.Arg125Cys					LRRC24_ENST00000533758.1_Missense_Mutation_p.R125C|LRRC14_ENST00000292524.1_3'UTR	p.R125C			Q50LG9	LRC24_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)		3	490	-	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		125						Missense_Mutation	SNP	ENST00000529415.2	37	c.373C>T	CCDS34969.1	.	.	.	.	.	.	.	.	.	.	G	26.8	4.771448	0.90108	.	.	ENSG00000254402	ENST00000529415;ENST00000533758	T;T	0.61274	0.12;0.12	4.84	4.84	0.62591	.	0.000000	0.85682	D	0.000000	T	0.78929	0.4361	M	0.87180	2.865	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.993;1.0	T	0.82995	-0.0180	10	0.87932	D	0	.	15.4632	0.75377	0.0:0.0:1.0:0.0	.	125;125	G3V1D8;Q50LG9	.;LRC24_HUMAN	C	125	ENSP00000434849:R125C;ENSP00000435653:R125C	ENSP00000434849:R125C	R	-	1	0	LRRC24	145720698	0.998000	0.40836	0.991000	0.47740	0.994000	0.84299	3.134000	0.50538	2.500000	0.84329	0.655000	0.94253	CGC		0.711	LRRC24-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382501.2	NM_001024678		5	5	0	0	0	1	0	5	5					A	145749890	G	A	145749890	3	1	358	1	0	0	0	0	1	0	0	0	8979	1087	38	1	1180	1	LRRC24	8	145749890	Missense_Mutation	SNP	G	TCGA-MG-AAMC-01A-11D-A41K-08	3547249	145749890	614132	14	17911											
NELL1	4745	broad.mit.edu	37	chr11	21555934	21555934	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggcagatattgatgaatgtTcagagggaatcattgagtgc	13	11	13	4	0	2	5	2	3	0	2	2	6	2	6	0	2	1	2	0	2	3	4			TCGA-MG-AAMC-01A-11D-A41K-08	TCGA-MG-AAMC-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	def5beb7-82b8-4e1d-b7ba-6af748d690cb	c0828412-45cb-4358-b5e6-d0e1543d9cf0	g.chr11:21555934T>C	ENST00000357134.5	+	16	1812	c.1660T>C	c.(1660-1662)Tca>Cca	p.S554P	NELL1_ENST00000532434.1_Intron|NELL1_ENST00000298925.5_Missense_Mutation_p.S582P|NELL1_ENST00000529218.1_3'UTR|NELL1_ENST00000325319.5_Missense_Mutation_p.S497P	NM_006157.3|NM_201551.1	NP_006148.2|NP_963845.1	Q92832	NELL1_HUMAN	NEL-like 1 (chicken)	554	EGF-like 4; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				cell differentiation (GO:0030154)|negative regulation of cyclin catabolic process (GO:2000599)|negative regulation of osteoblast proliferation (GO:0033689)|nervous system development (GO:0007399)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|regulation of gene expression (GO:0010468)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|nuclear envelope (GO:0005635)|perinuclear region of cytoplasm (GO:0048471)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	70						TGATGAATGTTCAGAGGGAAT	0.458																																						ENST00000298925.5																			0				NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	70						c.(1744-1746)Tca>Cca		NEL-like 1 (chicken)							157	141	146					11																	21555934		2203	4300	6503	SO:0001583	missense	4745				cell adhesion|nervous system development	extracellular region	calcium ion binding|structural molecule activity	g.chr11:21555934T>C	AK127805	CCDS7855.1, CCDS44555.1, CCDS73267.1, CCDS73268.1	11p15.1	2008-02-01	2001-11-28		ENSG00000165973	ENSG00000165973			7750	protein-coding gene	gene with protein product		602319	"nel (chicken)-like 1"			8975702	Standard	NM_006157		Approved	IDH3GL, FLJ45906	uc001mqe.3	Q92832	OTTHUMG00000166042	ENST00000357134.5:c.1660T>C	11.37:g.21555934T>C	ENSP00000349654:p.Ser554Pro					NELL1_ENST00000529218.1_3'UTR|NELL1_ENST00000532434.1_Intron|NELL1_ENST00000357134.5_Missense_Mutation_p.S554P|NELL1_ENST00000325319.5_Missense_Mutation_p.S497P	p.S582P			Q92832	NELL1_HUMAN			17	1897	+			554			EGF-like 5; calcium-binding (Potential).		B2CKC1|Q4VB90|Q4VB91|Q6NSY8|Q9Y472	Missense_Mutation	SNP	ENST00000357134.5	37	c.1744T>C	CCDS7855.1	.	.	.	.	.	.	.	.	.	.	T	13.79	2.342732	0.41498	.	.	ENSG00000165973	ENST00000298925;ENST00000357134;ENST00000325319	D;D;D	0.92249	-3.0;-3.0;-3.0	5.37	-1.15	0.09709	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.255253	0.30676	N	0.009110	D	0.86377	0.5918	L	0.56769	1.78	0.23776	N	0.99688	B;B;B	0.21147	0.018;0.052;0.01	B;B;B	0.17433	0.018;0.012;0.008	T	0.76487	-0.2941	10	0.66056	D	0.02	-3.9838	4.0764	0.09906	0.2511:0.0:0.4211:0.3278	.	497;582;554	F5H6I3;B3KXR2;Q92832	.;.;NELL1_HUMAN	P	582;554;497	ENSP00000298925:S582P;ENSP00000349654:S554P;ENSP00000317837:S497P	ENSP00000298925:S582P	S	+	1	0	NELL1	21512510	1.000000	0.71417	0.984000	0.44739	0.987000	0.75469	0.773000	0.26661	-0.199000	0.10317	-0.917000	0.02746	TCA		0.458	NELL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387588.1	NM_006157		43	52	0	0	0	1	0	43	52					C	21555934	T	C	21555934	3	2	358	1	0	0	0	0	1	0	0	0	10333	1783	62	4	1722	4	NELL1	11	21555934	Missense_Mutation	SNP	T	TCGA-MG-AAMC-01A-11D-A41K-08		21555934	113450582	15	17912											
VPS11	55823	broad.mit.edu	37	chr11	118947656	118947656	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgatccgcaagtttctggatGcccagcgcattcacaacctg	9	10	9	13	2	2	1	1	1	1	0	3	2	3	2	3	1	3	3	3	1	2	2			TCGA-MG-AAMC-01A-11D-A41K-08	TCGA-MG-AAMC-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	def5beb7-82b8-4e1d-b7ba-6af748d690cb	c0828412-45cb-4358-b5e6-d0e1543d9cf0	g.chr11:118947656G>T	ENST00000300793.6	+	9	1327	c.1285G>T	c.(1285-1287)Gcc>Tcc	p.A429S	VPS11_ENST00000527798.1_3'UTR	NM_021729.4	NP_068375.3	Q9H270	VPS11_HUMAN	vacuolar protein sorting 11 homolog (S. cerevisiae)	430					intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	endocytic vesicle (GO:0030139)|endosome (GO:0005768)|HOPS complex (GO:0030897)|lysosomal membrane (GO:0005765)	nucleotide binding (GO:0000166)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	29	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.88e-05)		GTTTCTGGATGCCCAGCGCAT	0.537																																						ENST00000300793.6																			0				autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	29						c.(1285-1287)Gcc>Tcc		vacuolar protein sorting 11 homolog (S. cerevisiae)							88	94	92					11																	118947656		2142	4237	6379	SO:0001583	missense	55823				protein transport	endocytic vesicle|HOPS complex|late endosome membrane|lysosomal membrane	nucleotide binding|protein binding|zinc ion binding	g.chr11:118947656G>T	AB027508	CCDS73404.1	11q23	2008-02-05	2006-12-19			ENSG00000160695		"RING-type (C3HC4) zinc fingers"	14583	protein-coding gene	gene with protein product		608549	"vacuolar protein sorting 11 (yeast homolog)"				Standard	NM_021729		Approved	RNF108, PEP5	uc010ryx.2	Q9H270		ENST00000300793.6:c.1285G>T	11.37:g.118947656G>T	ENSP00000475301:p.Ala429Ser					VPS11_ENST00000527798.1_3'UTR	p.A429S	NM_021729.4	NP_068375.3	Q9H270	VPS11_HUMAN		BRCA - Breast invasive adenocarcinoma(274;7.88e-05)	9	1327	+	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)	430					Q8WY89|Q96EP8|Q9H6D9|Q9HCS6	Missense_Mutation	SNP	ENST00000300793.6	37	c.1285G>T																																																																																					0.537	VPS11-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_021729		4	24	1	0	0.00909568	1	0.00934834	4	24					T	118947656	G	T	118947656	3	4	358	1	0	0	0	0	1	0	0	0	17185	1319	46	5	1317	5	VPS11	11	118947656	Missense_Mutation	SNP	G	TCGA-MG-AAMC-01A-11D-A41K-08	97391722	118947656	16058860	16	17913											
TECPR2	9895	broad.mit.edu	37	chr14	102918941	102918941	+	Frame_Shift_Del	DEL	C	C	-																															ccccacgggcatgcactggaCcaggctggacctctcccagc																										TCGA-MG-AAMC-01A-11D-A41K-08	TCGA-MG-AAMC-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	def5beb7-82b8-4e1d-b7ba-6af748d690cb	c0828412-45cb-4358-b5e6-d0e1543d9cf0	g.chr14:102918941delC	ENST00000359520.7	+	16	3843	c.3617delC	c.(3616-3618)accfs	p.T1206fs	TECPR2_ENST00000558678.1_Frame_Shift_Del_p.T1206fs	NM_014844.3	NP_055659.2	O15040	TCPR2_HUMAN	tectonin beta-propeller repeat containing 2	1206					autophagy (GO:0006914)|cell death (GO:0008219)					breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(21)|ovary(2)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	50						ATGCACTGGACCAGGCTGGAC	0.637																																						ENST00000359520.7																			0				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(21)|ovary(2)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	50						c.(3616-3618)acfs		tectonin beta-propeller repeat containing 2							16	13	14					14																	102918941		2195	4285	6480	SO:0001589	frameshift_variant	9895						protein binding	g.chr14:102918941delC	AB019441	CCDS32162.1, CCDS58337.1	14q32.33	2009-02-27	2009-02-27	2009-02-27		ENSG00000196663			19957	protein-coding gene	gene with protein product		615000	"KIAA0329"	KIAA0329		9205841	Standard	NM_014844		Approved		uc001ylw.2	O15040		ENST00000359520.7:c.3617delC	14.37:g.102918941delC	ENSP00000352510:p.Thr1206fs					TECPR2_ENST00000558678.1_Frame_Shift_Del_p.T1206fs	p.T1206fs	NM_014844.3	NP_055659.2	O15040	TCPR2_HUMAN			16	3843	+			1206					A5PKY3|A6NFY9|A7E2X3|H0YMM9|Q9UEG6	Frame_Shift_Del	DEL	ENST00000359520.7	37	c.3617delC	CCDS32162.1																																																																																				0.637	TECPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415056.2	NM_014844		2	4						2	4	---	---	---	---	-	102918941	C	-	102918941	7	5	358	1	0	1	0	1	0	0	0	0	15741	507	18	0	3675	0	TECPR2	14	102918941	Frame_Shift_Del	DEL	C	TCGA-MG-AAMC-01A-11D-A41K-08		102918941	4430599	17	17914											
DUOX1	53905	broad.mit.edu	37	chr15	45453998	45453998	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acaagtcagggcagtgggtgCggatcgcttgcctggctctg	6	9	16	10	2	2	0	1	0	1	0	3	1	2	1	1	4	2	3	1	4	1	1	rs368964201		TCGA-MG-AAMC-01A-11D-A41K-08	TCGA-MG-AAMC-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	def5beb7-82b8-4e1d-b7ba-6af748d690cb	c0828412-45cb-4358-b5e6-d0e1543d9cf0	g.chr15:45453998C>A	ENST00000321429.4	+	31	4326	c.3919C>A	c.(3919-3921)Cgg>Agg	p.R1307R	CTD-2651B20.1_ENST00000558039.1_lincRNA|DUOX1_ENST00000389037.3_Silent_p.R1307R|DUOX1_ENST00000561166.1_Silent_p.R953R	NM_017434.3	NP_059130.2	Q9NRD9	DUOX1_HUMAN	dual oxidase 1	1307	FAD-binding FR-type. {ECO:0000255|PROSITE-ProRule:PRU00716}.				cuticle development (GO:0042335)|cytokine-mediated signaling pathway (GO:0019221)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide biosynthetic process (GO:0050665)|hydrogen peroxide catabolic process (GO:0042744)|oxidation-reduction process (GO:0055114)|response to cAMP (GO:0051591)|superoxide anion generation (GO:0042554)|thyroid hormone generation (GO:0006590)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|heme binding (GO:0020037)|NAD(P)H oxidase activity (GO:0016174)|NADP binding (GO:0050661)|peroxidase activity (GO:0004601)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|lung(16)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)	57		all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717)		GCAGTGGGTGCGGATCGCTTG	0.647																																						ENST00000321429.4																			0				breast(2)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|lung(16)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)	57						c.(3919-3921)Cgg>Agg		dual oxidase 1							89	78	81					15																	45453998		2198	4298	6496	SO:0001819	synonymous_variant	53905				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|superoxide anion generation	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|NADP binding|peroxidase activity	g.chr15:45453998C>A	AF213465	CCDS32221.1	15q21	2013-01-10				ENSG00000137857		"EF-hand domain containing"	3062	protein-coding gene	gene with protein product	"NADPH thyroid oxidase 1", "flavoprotein NADPH oxidase", "nicotinamide adenine dinucleotide phosphate oxidase"	606758				10806195	Standard	XM_005254463		Approved	NOXEF1, THOX1, LNOX1	uc001zut.1	Q9NRD9		ENST00000321429.4:c.3919C>A	15.37:g.45453998C>A						CTD-2651B20.1_ENST00000558039.1_lincRNA|DUOX1_ENST00000389037.3_Silent_p.R1307R|DUOX1_ENST00000561166.1_Silent_p.R953R	p.R1307R	NM_017434.3	NP_059130.2	Q9NRD9	DUOX1_HUMAN		all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717)	31	4326	+		all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)	1307			FAD-binding FR-type.		A6NH28|Q14C94|Q6ZMB3|Q6ZR09|Q9NZC1	Silent	SNP	ENST00000321429.4	37	c.3919C>A	CCDS32221.1																																																																																				0.647	DUOX1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416251.1	NM_017434		19	37	1	0	6.44725e-10	1	7.45464e-10	19	37					A	45453998	C	A	45453998	2	1	358	1	0	0	0	0	0	0	0	1	4800	759	27	5		5	DUOX1	15	45453998	Silent	SNP	C	TCGA-MG-AAMC-01A-11D-A41K-08		45453998	57077394	18	17915											
LOC100132247	100132247	broad.mit.edu	37	chr16	22545540	22545558	+	Frame_Shift_Del	DEL	CGAGCGTCTGCGGGGGCCG	CGAGCGTCTGCGGGGGCCG	-																															gataatatcaagacacctgcCgagcgtctgcgggggccgct																								rs369022450		TCGA-MG-AAMC-01A-11D-A41K-08	TCGA-MG-AAMC-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	def5beb7-82b8-4e1d-b7ba-6af748d690cb	c0828412-45cb-4358-b5e6-d0e1543d9cf0	g.chr16:22545540_22545558delCGAGCGTCTGCGGGGGCCG	ENST00000517539.1	+	8	1311_1329	c.1236_1254delCGAGCGTCTGCGGGGGCCG	c.(1234-1254)gccgagcgtctgcgggggccgfs	p.AERLRGP412fs	NPIPB5_ENST00000415654.1_3'UTR|NPIPB5_ENST00000424340.1_Frame_Shift_Del_p.AERLRGP412fs			A8MRT5	NPIB5_HUMAN	nuclear pore complex interacting protein family, member B5	412	Pro-rich.					integral component of membrane (GO:0016021)											AGACACCTGCCGAGCGTCTGCGGGGGCCGCTTCCACCCT	0.562																																						ENST00000424340.1																			0											c.(1234-1254)gcfs		nuclear pore complex interacting protein family, member B5																																				SO:0001589	frameshift_variant	100132247							g.chr16:22545540_22545558delCGAGCGTCTGCGGGGGCCG		CCDS45443.1	16p12.2	2013-06-11			ENSG00000243716	ENSG00000243716			37233	protein-coding gene	gene with protein product							Standard	NM_001135865		Approved			A8MRT5	OTTHUMG00000163573	ENST00000517539.1:c.1236_1254delCGAGCGTCTGCGGGGGCCG	16.37:g.22545540_22545558delCGAGCGTCTGCGGGGGCCG	ENSP00000430633:p.Ala412fs					NPIPB5_ENST00000415654.1_3'UTR|NPIPB5_ENST00000517539.1_Frame_Shift_Del_p.AERLRGP412fs	p.AERLRGP412fs	NM_001135865.1	NP_001129337.1					7	1515_1533	+								B4DK13	Frame_Shift_Del	DEL	ENST00000517539.1	37	c.1236_1254delCGAGCGTCTGCGGGGGCCG	CCDS45443.1																																																																																				0.562	NPIPB5-002	NOVEL	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374343.2	NM_001135865		3	6						3	6	---	---	---	---	-	22545558	CGAGCGTCTGCGGGGGCCG	-	22545540	7	5	358	1	0	1	0	1	0	0	0	0	8868	639	23	0	1262	0	LOC100132247	16	22545540	Frame_Shift_Del	DEL	CGAGCGTCTGCGGGGGCCG	TCGA-MG-AAMC-01A-11D-A41K-08		22545540	67809213	19	17916											
RPA1	6117	broad.mit.edu	37	chr17	1795214	1795214	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttggacaaaatgctgcttatCttggggaattaaaagacaag	15	11	10	5	0	1	1	0	0	1	1	1	3	1	3	0	3	2	2	0	3	7	4			TCGA-MG-AAMC-01A-11D-A41K-08	TCGA-MG-AAMC-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	def5beb7-82b8-4e1d-b7ba-6af748d690cb	c0828412-45cb-4358-b5e6-d0e1543d9cf0	g.chr17:1795214C>A	ENST00000254719.5	+	15	1749	c.1639C>A	c.(1639-1641)Ctt>Att	p.L547I		NM_002945.3	NP_002936.1	P27694	RFA1_HUMAN	replication protein A1, 70kDa	547					base-excision repair (GO:0006284)|DNA recombinase assembly (GO:0000730)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA-dependent DNA replication (GO:0006261)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|G1/S transition of mitotic cell cycle (GO:0000082)|hemopoiesis (GO:0030097)|homeostasis of number of cells within a tissue (GO:0048873)|in utero embryonic development (GO:0001701)|meiotic nuclear division (GO:0007126)|mismatch repair (GO:0006298)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|nucleotide-excision repair, DNA gap filling (GO:0006297)|positive regulation of cell proliferation (GO:0008284)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|DNA replication factor A complex (GO:0005662)|lateral element (GO:0000800)|male germ cell nucleus (GO:0001673)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	chromatin binding (GO:0003682)|damaged DNA binding (GO:0003684)|metal ion binding (GO:0046872)|single-stranded DNA binding (GO:0003697)			breast(1)|endometrium(3)|large_intestine(2)|lung(2)|ovary(2)	10						TGCTGCTTATCTTGGGGAATT	0.343								Nucleotide excision repair (NER)																														ENST00000254719.5																			0				breast(1)|endometrium(3)|large_intestine(2)|lung(2)|ovary(2)	10						c.(1639-1641)Ctt>Att	Nucleotide excision repair (NER)	replication protein A1, 70kDa							74	77	76					17																	1795214		2203	4300	6503	SO:0001583	missense	6117				cell cycle checkpoint|DNA recombinase assembly|DNA strand elongation involved in DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	actin cytoskeleton|cytoplasm|DNA replication factor A complex|PML body	metal ion binding|protein binding|single-stranded DNA binding	g.chr17:1795214C>A	M63488	CCDS11014.1	17p13.3	2008-02-05	2002-08-29		ENSG00000132383	ENSG00000132383			10289	protein-coding gene	gene with protein product		179835	"replication protein A1 (70kD)"			8454588	Standard	NM_002945		Approved	REPA1, RPA70, HSSB, RF-A, RP-A	uc002fto.2	P27694	OTTHUMG00000090579	ENST00000254719.5:c.1639C>A	17.37:g.1795214C>A	ENSP00000254719:p.Leu547Ile						p.L547I	NM_002945.3	NP_002936.1	P27694	RFA1_HUMAN			15	1749	+			547					A8K0Y9|Q59ES9	Missense_Mutation	SNP	ENST00000254719.5	37	c.1639C>A	CCDS11014.1	.	.	.	.	.	.	.	.	.	.	C	11.04	1.521118	0.27211	.	.	ENSG00000132383	ENST00000254719	T	0.57595	0.39	5.72	2.58	0.30949	Nucleic acid-binding, OB-fold-like (1);Replication factor A, C-terminal (1);Nucleic acid-binding, OB-fold (1);	0.057244	0.64402	N	0.000001	T	0.61726	0.2370	L	0.60957	1.885	0.58432	D	0.999996	P	0.51653	0.947	D	0.69479	0.964	T	0.56643	-0.7945	10	0.41790	T	0.15	-5.8117	6.266	0.20928	0.2463:0.5711:0.1187:0.064	.	547	P27694	RFA1_HUMAN	I	547	ENSP00000254719:L547I	ENSP00000254719:L547I	L	+	1	0	RPA1	1741964	0.998000	0.40836	0.154000	0.22540	0.048000	0.14542	1.979000	0.40608	0.326000	0.23384	-0.187000	0.12897	CTT		0.343	RPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207118.2	NM_002945		24	39	1	0	6.12954e-19	1	7.3159e-19	24	39					A	1795214	C	A	1795214	3	1	358	1	0	0	0	0	1	0	0	0	13536	913	32	5	1697	5	RPA1	17	1795214	Missense_Mutation	SNP	C	TCGA-MG-AAMC-01A-11D-A41K-08		1795214	79399996	20	17917											
TMEM132E	124842	broad.mit.edu	37	chr17	32959839	32959839	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cccctggaaatgacagtctgGgtccccaagctgcccttgca	8	8	10	15	0	1	1	0	1	1	0	2	2	2	2	5	2	3	2	5	2	2	1			TCGA-MG-AAMC-01A-11D-A41K-08	TCGA-MG-AAMC-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	def5beb7-82b8-4e1d-b7ba-6af748d690cb	c0828412-45cb-4358-b5e6-d0e1543d9cf0	g.chr17:32959839G>A	ENST00000321639.5	+	7	1657	c.1329G>A	c.(1327-1329)tgG>tgA	p.W443*		NM_207313.1	NP_997196.1	Q6IEE7	T132E_HUMAN	transmembrane protein 132E	443						integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(28)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	57				BRCA - Breast invasive adenocarcinoma(366;0.231)		TGACAGTCTGGGTCCCCAAGC	0.587																																						ENST00000321639.5																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(28)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	57						c.(1327-1329)tgG>tgA		transmembrane protein 132E							185	164	171					17																	32959839		2203	4300	6503	SO:0001587	stop_gained	124842					integral to membrane		g.chr17:32959839G>A	BN000149	CCDS11283.1	17q12	2012-11-01			ENSG00000181291	ENSG00000181291			26991	protein-coding gene	gene with protein product							Standard	NM_207313		Approved		uc002hif.3	Q6IEE7	OTTHUMG00000132927	ENST00000321639.5:c.1329G>A	17.37:g.32959839G>A	ENSP00000316532:p.Trp443*						p.W443*	NM_207313.1	NP_997196.1	Q6IEE7	T132E_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.231)	7	1657	+			443					Q8WUF4|Q8WVA5	Nonsense_Mutation	SNP	ENST00000321639.5	37	c.1329G>A	CCDS11283.1	.	.	.	.	.	.	.	.	.	.	G	41	8.558026	0.98861	.	.	ENSG00000181291	ENST00000321639	.	.	.	4.61	4.61	0.57282	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-17.8622	16.6219	0.84932	0.0:0.0:1.0:0.0	.	.	.	.	X	443	.	ENSP00000316532:W443X	W	+	3	0	TMEM132E	29983952	1.000000	0.71417	1.000000	0.80357	0.925000	0.55904	9.657000	0.98554	2.388000	0.81334	0.551000	0.68910	TGG		0.587	TMEM132E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256440.2	NM_207313		40	104	0	0	0	1	0	40	104					A	32959839	G	A	32959839	4	1	358	1	0	0	0	0	0	1	0	0	16045	1241	43	3	1355	3	TMEM132E	17	32959839	Nonsense_Mutation	SNP	G	TCGA-MG-AAMC-01A-11D-A41K-08	31164625	32959839	48235371	21	17918											
SLFN12	55106	broad.mit.edu	37	chr17	33738370	33738370	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttttccatcaggtgagccttCgacaagatttaaacatcttt	11	15	6	9	1	2	2	1	1	1	1	4	3	3	2	2	1	2	0	2	1	3	6			TCGA-MG-AAMC-01A-11D-A41K-08	TCGA-MG-AAMC-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	def5beb7-82b8-4e1d-b7ba-6af748d690cb	c0828412-45cb-4358-b5e6-d0e1543d9cf0	g.chr17:33738370C>T	ENST00000394562.1	-	6	2247	c.1724G>A	c.(1723-1725)cGa>cAa	p.R575Q	SLFN12_ENST00000452764.3_Missense_Mutation_p.R575Q|SLFN12_ENST00000304905.5_Missense_Mutation_p.R575Q|RP11-686D22.8_ENST00000587012.1_RNA|SLFN12_ENST00000460530.1_5'UTR			Q8IYM2	SLN12_HUMAN	schlafen family member 12	575							ATP binding (GO:0005524)			breast(1)|kidney(2)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	18		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		GGTGAGCCTTCGACAAGATTT	0.318																																						ENST00000394562.1																			0				breast(1)|kidney(2)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	18						c.(1723-1725)cGa>cAa		schlafen family member 12							55	61	59					17																	33738370		2201	4300	6501	SO:0001583	missense	55106						ATP binding	g.chr17:33738370C>T	AK001122	CCDS11295.1	17q12	2006-04-05			ENSG00000172123	ENSG00000172123			25500	protein-coding gene	gene with protein product		614955				12477932	Standard	NM_018042		Approved	FLJ10260	uc002hji.4	Q8IYM2	OTTHUMG00000132952	ENST00000394562.1:c.1724G>A	17.37:g.33738370C>T	ENSP00000378063:p.Arg575Gln					SLFN12_ENST00000452764.3_Missense_Mutation_p.R575Q|SLFN12_ENST00000304905.5_Missense_Mutation_p.R575Q|SLFN12_ENST00000460530.1_5'UTR	p.R575Q			Q8IYM2	SLN12_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)	6	2247	-		Ovarian(249;0.17)	575					A8K711|Q9NP47	Missense_Mutation	SNP	ENST00000394562.1	37	c.1724G>A	CCDS11295.1	.	.	.	.	.	.	.	.	.	.	C	11.63	1.695395	0.30052	.	.	ENSG00000172123	ENST00000394562;ENST00000304905;ENST00000452764	T;T;T	0.03920	3.76;3.76;3.76	3.05	-0.674	0.11369	.	.	.	.	.	T	0.02304	0.0071	N	0.08118	0	0.09310	N	1	B	0.30634	0.288	B	0.24269	0.052	T	0.44159	-0.9346	9	0.87932	D	0	.	4.9962	0.14240	0.1358:0.4333:0.4309:0.0	.	575	Q8IYM2	SLN12_HUMAN	Q	575	ENSP00000378063:R575Q;ENSP00000302077:R575Q;ENSP00000394903:R575Q	ENSP00000302077:R575Q	R	-	2	0	SLFN12	30762483	0.001000	0.12720	0.000000	0.03702	0.022000	0.10575	0.005000	0.13129	0.126000	0.18424	-0.437000	0.05841	CGA		0.318	SLFN12-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256491.1	NM_018042		4	87	0	0	0	1	0	4	87					T	33738370	C	T	33738370	3	4	358	1	0	0	0	0	1	0	0	0	14734	884	31	2	16	2	SLFN12	17	33738370	Missense_Mutation	SNP	C	TCGA-MG-AAMC-01A-11D-A41K-08	778531	33738370	47456840	22	17919											
ANKRD27	84079	broad.mit.edu	37	chr19	33149850	33149850	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atttgggccactttgctgcaCaagtcagggcggcacttttg	7	12	12	10	1	1	0	1	0	0	0	1	0	1	0	1	3	2	3	1	3	1	4			TCGA-MG-AAMC-01A-11D-A41K-08	TCGA-MG-AAMC-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	def5beb7-82b8-4e1d-b7ba-6af748d690cb	c0828412-45cb-4358-b5e6-d0e1543d9cf0	g.chr19:33149850C>T	ENST00000306065.4	-	2	230	c.72G>A	c.(70-72)ttG>ttA	p.L24L	ANKRD27_ENST00000587352.1_Silent_p.L24L	NM_032139.2	NP_115515.2	Q96NW4	ANR27_HUMAN	ankyrin repeat domain 27 (VPS9 domain)	24					early endosome to late endosome transport (GO:0045022)|positive regulation of GTPase activity (GO:0043547)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|lysosome (GO:0005764)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)			breast(3)|endometrium(7)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	42	Esophageal squamous(110;0.137)					CTTTGCTGCACAAGTCAGGGC	0.498																																						ENST00000306065.4																			0				breast(3)|endometrium(7)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	42						c.(70-72)ttG>ttA		ankyrin repeat domain 27 (VPS9 domain)							92	86	88					19																	33149850		2203	4300	6503	SO:0001819	synonymous_variant	84079				early endosome to late endosome transport	early endosome|lysosome	GTPase activator activity|guanyl-nucleotide exchange factor activity	g.chr19:33149850C>T	AK054561	CCDS32986.1	19q13.12	2013-01-10				ENSG00000105186		"Ankyrin repeat domain containing"	25310	protein-coding gene	gene with protein product	"Vps9 domain and ankyrin-repeat-containing protein"					11230166, 16525121	Standard	NM_032139		Approved	FLJ00040, DKFZp434L0718, VARP	uc002ntn.1	Q96NW4		ENST00000306065.4:c.72G>A	19.37:g.33149850C>T						ANKRD27_ENST00000587352.1_Silent_p.L24L|ANKRD27_ENST00000586693.2_5'UTR	p.L24L	NM_032139.2	NP_115515.2	Q96NW4	ANR27_HUMAN			2	230	-	Esophageal squamous(110;0.137)		24					Q71MF5|Q86UC3|Q8ND80|Q9H0I4	Silent	SNP	ENST00000306065.4	37	c.72G>A	CCDS32986.1																																																																																				0.498	ANKRD27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450329.1	NM_032139		17	19	0	0	0	1	0	17	19					T	33149850	C	T	33149850	2	4	358	1	0	0	0	0	0	0	0	1	655	477	17	3		3	ANKRD27	19	33149850	Silent	SNP	C	TCGA-MG-AAMC-01A-11D-A41K-08		33149850	25979133	23	17920											
CATSPERG	57828	broad.mit.edu	37	chr19	38858384	38858384	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcaaggactacagtgaggaCgaaatctaccgcttcaacag	14	7	9	11	2	3	1	2	1	1	0	3	4	3	3	1	2	3	1	1	2	5	3	rs2302184		TCGA-MG-AAMC-01A-11D-A41K-08	TCGA-MG-AAMC-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	def5beb7-82b8-4e1d-b7ba-6af748d690cb	c0828412-45cb-4358-b5e6-d0e1543d9cf0	g.chr19:38858384C>T	ENST00000409235.3	+	25	3013	c.2898C>T	c.(2896-2898)gaC>gaT	p.D966D	CATSPERG_ENST00000215069.4_3'UTR|CATSPERG_ENST00000410018.1_Silent_p.D926D	NM_021185.4	NP_067008.3	Q6ZRH7	CTSRG_HUMAN	catsper channel auxiliary subunit gamma	966					cell differentiation (GO:0030154)|multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)|spermatogenesis (GO:0007283)	CatSper complex (GO:0036128)|plasma membrane (GO:0005886)|sperm principal piece (GO:0097228)				breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(13)|ovary(1)|pancreas(2)|prostate(6)|skin(3)|stomach(1)|urinary_tract(2)	40						ACAGTGAGGACGAAATCTACC	0.597													C|||	1	0.000199681	0	0	5008	,	,		17275	0		0	False		,,,				2504	0.001					ENST00000409235.3																			0				breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(13)|ovary(1)|pancreas(2)|prostate(6)|skin(3)|stomach(1)|urinary_tract(2)	40						c.(2896-2898)gaC>gaT		catsper channel auxiliary subunit gamma		C		0,4406		0,0,2203	227	238	234		2898	-3.5	0.3	19	dbSNP_100	234	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	CATSPERG	NM_021185.4		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		966/1160	38858384	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	57828				cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane		g.chr19:38858384C>T	AK128220	CCDS12514.2	19q13.1	2014-05-13	2012-02-22	2009-07-17	ENSG00000099338	ENSG00000099338			25243	protein-coding gene	gene with protein product		613452	"chromosome 19 open reading frame 15", "cation channel, sperm-associated, gamma"	C19orf15		19516020	Standard	NM_021185		Approved	DKFZp434A1022, FLJ46353	uc002oih.4	Q6ZRH7	OTTHUMG00000153223	ENST00000409235.3:c.2898C>T	19.37:g.38858384C>T						CATSPERG_ENST00000410018.1_Silent_p.D926D|CATSPERG_ENST00000215069.4_3'UTR	p.D966D	NM_021185.4	NP_067008.3	Q6ZRH7	CTSRG_HUMAN			25	3013	+			966					A6NEG6|Q659E1	Silent	SNP	ENST00000409235.3	37	c.2898C>T	CCDS12514.2																																																																																				0.597	CATSPERG-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000330204.1	NM_021185		93	158	0	0	0	1	0	93	158					T	38858384	C	T	38858384	2	4	358	1	0	0	0	0	0	0	0	1	2692	535	19	1		1	CATSPERG	19	38858384	Silent	SNP	C	TCGA-MG-AAMC-01A-11D-A41K-08	5708534	38858384	20270599	24	17921											
GSK3A	2931	broad.mit.edu	37	chr19	42738596	42738596	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gagacattgggctcccctcgGaccaactgctttgcactgtg	7	10	11	13	1	0	1	0	0	0	1	2	3	1	2	3	2	3	3	3	2	1	2			TCGA-MG-AAMC-01A-11D-A41K-08	TCGA-MG-AAMC-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	def5beb7-82b8-4e1d-b7ba-6af748d690cb	c0828412-45cb-4358-b5e6-d0e1543d9cf0	g.chr19:42738596G>A	ENST00000222330.3	-	6	940	c.813C>T	c.(811-813)gtC>gtT	p.V271V	GSK3A_ENST00000398249.4_Silent_p.V189V	NM_019884.2	NP_063937.2	P49840	GSK3A_HUMAN	glycogen synthase kinase 3 alpha	271	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cardiac left ventricle morphogenesis (GO:0003214)|cell migration (GO:0016477)|cellular protein metabolic process (GO:0044267)|cellular response to insulin stimulus (GO:0032869)|cellular response to interleukin-3 (GO:0036016)|cellular response to lithium ion (GO:0071285)|cellular response to organic cyclic compound (GO:0071407)|endoplasmic reticulum unfolded protein response (GO:0030968)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glycogen metabolic process (GO:0005977)|hypermethylation of CpG island (GO:0044027)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell growth involved in cardiac muscle cell development (GO:0061052)|negative regulation of glucose import (GO:0046325)|negative regulation of glycogen (starch) synthase activity (GO:2000466)|negative regulation of glycogen biosynthetic process (GO:0045719)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of TOR signaling (GO:0032007)|negative regulation of transferase activity (GO:0051348)|negative regulation of type B pancreatic cell development (GO:2000077)|negative regulation of UDP-glucose catabolic process (GO:0010905)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of adrenergic receptor signaling pathway (GO:0071879)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of glycogen (starch) synthase activity (GO:2000467)|positive regulation of heart contraction (GO:0045823)|positive regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway (GO:1901030)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein phosphorylation (GO:0006468)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of systemic arterial blood pressure (GO:0003073)|Wnt signaling pathway (GO:0016055)	beta-catenin destruction complex (GO:0030877)|cytosol (GO:0005829)	ATP binding (GO:0005524)|protein kinase A catalytic subunit binding (GO:0034236)|protein serine/threonine kinase activity (GO:0004674)|tau-protein kinase activity (GO:0050321)			endometrium(3)|large_intestine(3)|lung(6)|ovary(3)|prostate(2)|skin(1)|urinary_tract(1)	19		Prostate(69;0.00682)				GCTCCCCTCGGACCAACTGCT	0.592																																						ENST00000398249.4																			0				endometrium(3)|large_intestine(3)|lung(6)|ovary(3)|prostate(2)|skin(1)|urinary_tract(1)	19						c.(565-567)gtC>gtT		glycogen synthase kinase 3 alpha							99	89	92					19																	42738596		2203	4300	6503	SO:0001819	synonymous_variant	2931				insulin receptor signaling pathway|negative regulation of glucose import|negative regulation of insulin receptor signaling pathway|negative regulation of transferase activity|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of protein catabolic process	beta-catenin destruction complex|cytosol	ATP binding|protein kinase A catalytic subunit binding|protein serine/threonine kinase activity|tau-protein kinase activity	g.chr19:42738596G>A		CCDS12599.1	19q13	2008-02-15			ENSG00000105723	ENSG00000105723			4616	protein-coding gene	gene with protein product		606784				9809441	Standard	NM_019884		Approved		uc002otb.1	P49840	OTTHUMG00000150722	ENST00000222330.3:c.813C>T	19.37:g.42738596G>A						GSK3A_ENST00000222330.3_Silent_p.V271V	p.V189V			P49840	GSK3A_HUMAN			5	2280	-		Prostate(69;0.00682)	271			Protein kinase.		O14959	Silent	SNP	ENST00000222330.3	37	c.567C>T	CCDS12599.1																																																																																				0.592	GSK3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319782.1			13	35	0	0	0	1	0	13	35					A	42738596	G	A	42738596	2	1	358	1	0	0	0	0	0	0	0	1	6823	1161	41	3		3	GSK3A	19	42738596	Silent	SNP	G	TCGA-MG-AAMC-01A-11D-A41K-08	3880212	42738596	16390387	25	17922											
ESF1	51575	broad.mit.edu	37	chr20	13756820	13756829	+	Frame_Shift_Del	DEL	CTTTCTGAAT	CTTTCTGAAT	-																															cacttcctatttcactaacgCtttctgaatcttcctccaga																										TCGA-MG-AAMC-01A-11D-A41K-08	TCGA-MG-AAMC-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	def5beb7-82b8-4e1d-b7ba-6af748d690cb	c0828412-45cb-4358-b5e6-d0e1543d9cf0	g.chr20:13756820_13756829delCTTTCTGAAT	ENST00000202816.1	-	3	832_841	c.725_734delATTCAGAAAG	c.(724-735)gattcagaaagcfs	p.DSES242fs		NM_001276380.1|NM_016649.3	NP_001263309.1|NP_057733.2	Q9H501	ESF1_HUMAN	ESF1, nucleolar pre-rRNA processing protein, homolog (S. cerevisiae)	242					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	extracellular space (GO:0005615)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.S243S(1)		endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(2)|skin(1)|stomach(1)	31						TTCACTAACGCTTTCTGAATCTTCCTCCAG	0.39																																						ENST00000202816.1																			1	Substitution - coding silent(1)	p.S243S(1)	endometrium(1)	endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(2)|skin(1)|stomach(1)	31						c.(724-735)gcfs		ESF1, nucleolar pre-rRNA processing protein, homolog (S. cerevisiae)																																				SO:0001589	frameshift_variant	51575				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus|nucleoplasm		g.chr20:13756820_13756829delCTTTCTGAAT		CCDS13117.1	20p12.1	2007-02-12	2006-11-13	2006-11-13	ENSG00000089048	ENSG00000089048			15898	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 6"	C20orf6			Standard	NM_016649		Approved	bA526K24.1	uc002wok.2	Q9H501	OTTHUMG00000031906	ENST00000202816.1:c.725_734delATTCAGAAAG	20.37:g.13756820_13756829delCTTTCTGAAT	ENSP00000202816:p.Asp242fs						p.DSES242fs	NM_001276380.1|NM_016649.3	NP_001263309.1|NP_057733.2	Q9H501	ESF1_HUMAN			3	832_841	-			242					Q86X92|Q9H9Q5|Q9HA35|Q9NX93|Q9P1S6	Frame_Shift_Del	DEL	ENST00000202816.1	37	c.725_734delATTCAGAAAG	CCDS13117.1																																																																																				0.39	ESF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078049.1	NM_016649		19	65						19	65	---	---	---	---	-	13756829	CTTTCTGAAT	-	13756820	7	5	358	1	0	1	0	1	0	0	0	0	5251	797	28	0	1869	0	ESF1	20	13756820	Frame_Shift_Del	DEL	CTTTCTGAAT	TCGA-MG-AAMC-01A-11D-A41K-08		13756820	49268700	26	17923											
TRPC4AP	26133	broad.mit.edu	37	chr20	33665958	33665958	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggattgtttgtccctctccGtcaaaaaagtctcagtgaac	10	13	8	10	1	3	1	2	1	2	0	6	2	4	2	2	1	1	1	2	1	4	2	rs200326780		TCGA-MG-AAMC-01A-11D-A41K-08	TCGA-MG-AAMC-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	def5beb7-82b8-4e1d-b7ba-6af748d690cb	c0828412-45cb-4358-b5e6-d0e1543d9cf0	g.chr20:33665958G>A	ENST00000252015.2	-	2	277	c.188C>T	c.(187-189)aCg>aTg	p.T63M	TRPC4AP_ENST00000432634.2_Missense_Mutation_p.T63M|TRPC4AP_ENST00000451813.2_Missense_Mutation_p.T63M			Q8TEL6	TP4AP_HUMAN	transient receptor potential cation channel, subfamily C, member 4 associated protein	63	Interaction with TNFRSF1A. {ECO:0000250}.				calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|protein ubiquitination (GO:0016567)|transmembrane transport (GO:0055085)|ubiquitin-dependent protein catabolic process (GO:0006511)	Cul4A-RING E3 ubiquitin ligase complex (GO:0031464)|plasma membrane (GO:0005886)	phosphatase binding (GO:0019902)			breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|skin(1)|stomach(1)|urinary_tract(1)	32			BRCA - Breast invasive adenocarcinoma(18;0.00936)			GTCCCTCTCCGTCAAAAAAGT	0.443																																						ENST00000252015.2																			0				breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|skin(1)|stomach(1)|urinary_tract(1)	32						c.(187-189)aCg>aTg		transient receptor potential cation channel, subfamily C, member 4 associated protein		G	MET/THR,MET/THR	0,4406		0,0,2203	105	96	99		188,188	-0.4	0.1	20		99	1,8599	1.2+/-3.3	0,1,4299	yes	missense,missense	TRPC4AP	NM_015638.2,NM_199368.1	81,81	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign,benign	63/798,63/790	33665958	1,13005	2203	4300	6503	SO:0001583	missense	26133				protein ubiquitination|ubiquitin-dependent protein catabolic process	Cul4A-RING ubiquitin ligase complex	protein binding	g.chr20:33665958G>A	AF055022	CCDS13246.1, CCDS46591.1	20q11.23	2014-06-13	2003-10-06	2003-10-08	ENSG00000100991	ENSG00000100991			16181	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 158"	608430	"chromosome 20 open reading frame 188"	C20orf188			Standard	NM_015638		Approved	DKFZP727M231, DKFZp586C1223, dJ756N5.2, TRRP4AP, PPP1R158	uc002xbk.3	Q8TEL6	OTTHUMG00000032319	ENST00000252015.2:c.188C>T	20.37:g.33665958G>A	ENSP00000252015:p.Thr63Met					TRPC4AP_ENST00000451813.1_Missense_Mutation_p.T63M|TRPC4AP_ENST00000432634.2_Missense_Mutation_p.T63M	p.T63M			Q8TEL6	TP4AP_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.00936)		2	277	-			63			Interaction with TNFRSF1A (By similarity).		E1P5Q0|E1P5Q1|Q96H82|Q9BVB8|Q9H429|Q9UFS6	Missense_Mutation	SNP	ENST00000252015.2	37	c.188C>T	CCDS13246.1	.	.	.	.	.	.	.	.	.	.	G	9.154	1.017072	0.19355	0.0	1.16E-4	ENSG00000100991	ENST00000252015;ENST00000451813;ENST00000432634;ENST00000541994	.	.	.	5.03	-0.364	0.12553	.	0.622984	0.17610	N	0.168111	T	0.07143	0.0181	N	0.08118	0	0.24980	N	0.991602	B;B;P	0.42757	0.0;0.004;0.789	B;B;B	0.22152	0.0;0.001;0.038	T	0.31251	-0.9950	9	0.45353	T	0.12	.	4.5179	0.11945	0.2048:0.0:0.291:0.5042	.	63;63;63	B4E0Q1;E1P5Q0;Q8TEL6	.;.;TP4AP_HUMAN	M	63;63;63;48	.	ENSP00000252015:T63M	T	-	2	0	TRPC4AP	33129619	0.213000	0.23551	0.050000	0.19076	0.650000	0.38633	0.949000	0.29109	0.169000	0.19679	-0.222000	0.12452	ACG		0.443	TRPC4AP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078832.2	NM_015638		24	21	0	0	0	1	0	24	21					A	33665958	G	A	33665958	3	1	358	1	0	0	0	0	1	0	0	0	16578	1145	40	1	2277	1	TRPC4AP	20	33665958	Missense_Mutation	SNP	G	TCGA-MG-AAMC-01A-11D-A41K-08	19909138	33665958	29359562	27	17924											
TBC1D10A	83874	broad.mit.edu	37	chr22	30691024	30691024	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acagcgtgtaggccttcagcAcacggaataggtcctgctgg	9	8	13	11	2	1	0	1	0	0	0	2	1	2	1	2	4	3	3	2	4	3	3			TCGA-MG-AAMC-01A-11D-A41K-08	TCGA-MG-AAMC-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	def5beb7-82b8-4e1d-b7ba-6af748d690cb	c0828412-45cb-4358-b5e6-d0e1543d9cf0	g.chr22:30691024A>G	ENST00000215790.7	-	5	709	c.545T>C	c.(544-546)gTg>gCg	p.V182A	RP1-130H16.18_ENST00000447976.1_Missense_Mutation_p.V56A|TBC1D10A_ENST00000403477.3_Missense_Mutation_p.V189A|TBC1D10A_ENST00000403362.1_Missense_Mutation_p.V94A	NM_031937.2	NP_114143.1	Q9BXI6	TB10A_HUMAN	TBC1 domain family, member 10A	182	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.				activation of cysteine-type endopeptidase activity (GO:0097202)|positive regulation of proteolysis (GO:0045862)|retrograde transport, endosome to Golgi (GO:0042147)	extracellular vesicular exosome (GO:0070062)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|PDZ domain binding (GO:0030165)|Rab GTPase activator activity (GO:0005097)			cervix(2)|endometrium(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	23						GGCCTTCAGCACACGGAATAG	0.637																																						ENST00000215790.7																			0				cervix(2)|endometrium(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	23						c.(544-546)gTg>gCg		TBC1 domain family, member 10A							55	53	54					22																	30691024		2203	4300	6503	SO:0001583	missense	83874					intracellular|microvillus	guanyl-nucleotide exchange factor activity|PDZ domain binding|Rab GTPase activator activity	g.chr22:30691024A>G	AF331038	CCDS13874.1, CCDS56227.1	22q12.2	2013-07-09	2005-03-10	2005-03-10	ENSG00000099992	ENSG00000099992			23609	protein-coding gene	gene with protein product	"EBP50-PDZ interactor of 64 kD"	610020	"TBC1 domain family, member 10"	TBC1D10		11285285, 20404108	Standard	NM_001204240		Approved	EPI64, AC004997.C22.2	uc010gvu.3	Q9BXI6	OTTHUMG00000150924	ENST00000215790.7:c.545T>C	22.37:g.30691024A>G	ENSP00000215790:p.Val182Ala					RP1-130H16.18_ENST00000447976.1_Missense_Mutation_p.V56A|TBC1D10A_ENST00000403362.1_Missense_Mutation_p.V94A|TBC1D10A_ENST00000403477.3_Missense_Mutation_p.V189A	p.V182A	NM_031937.2	NP_114143.1	Q9BXI6	TB10A_HUMAN			5	709	-			182			Rab-GAP TBC.		B3KXT8|O76053|Q20WK7|Q543A2	Missense_Mutation	SNP	ENST00000215790.7	37	c.545T>C	CCDS13874.1	.	.	.	.	.	.	.	.	.	.	A	22.6	4.313120	0.81358	.	.	ENSG00000248751;ENSG00000099992;ENSG00000099992;ENSG00000099992;ENSG00000099992	ENST00000434291;ENST00000215790;ENST00000403477;ENST00000403362;ENST00000393906	T;T;T;T;T	0.18174	2.23;2.23;2.23;2.23;2.23	4.24	3.17	0.36434	Rab-GAP/TBC domain (4);	0.060021	0.64402	D	0.000003	T	0.50854	0.1640	H	0.96142	3.775	0.58432	D	0.999994	D;D;D;D	0.76494	0.999;0.999;0.999;0.999	D;D;D;D	0.79108	0.983;0.992;0.983;0.992	T	0.59484	-0.7446	10	0.87932	D	0	.	9.1913	0.37200	0.8371:0.0:0.0:0.1629	.	182;189;182;182	Q20WK7;B3KXT8;Q9BXI6;A7E244	.;.;TB10A_HUMAN;.	A	56;182;189;94;94	ENSP00000401535:V56A;ENSP00000215790:V182A;ENSP00000384996:V189A;ENSP00000385050:V94A;ENSP00000377484:V94A	ENSP00000331267:V43A	V	-	2	0	TBC1D10A;RP1-130H16.18	29021024	1.000000	0.71417	0.998000	0.56505	0.992000	0.81027	9.040000	0.93783	0.747000	0.32809	0.459000	0.35465	GTG		0.637	TBC1D10A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000320550.1	NM_031937		18	26	0	0	0	1	0	18	26					G	30691024	A	G	30691024	3	3	358	1	0	0	0	0	1	0	0	0	15595	159	6	4	1001	4	TBC1D10A	22	30691024	Missense_Mutation	SNP	A	TCGA-MG-AAMC-01A-11D-A41K-08		30691024	20613542	28	17925											
TRIOBP	11078	broad.mit.edu	37	chr22	38122318	38122318	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	accgggcagctctgggggctCccggggctcagcgcctcccg	3	5	16	17	4	2	0	1	0	1	0	4	0	4	0	4	5	2	4	4	5	0	0	rs560619122		TCGA-MG-AAMC-01A-11D-A41K-08	TCGA-MG-AAMC-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	def5beb7-82b8-4e1d-b7ba-6af748d690cb	c0828412-45cb-4358-b5e6-d0e1543d9cf0	g.chr22:38122318C>T	ENST00000406386.3	+	7	4010	c.3755C>T	c.(3754-3756)tCc>tTc	p.S1252F		NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	1252					actin modification (GO:0030047)|barbed-end actin filament capping (GO:0051016)|mitotic nuclear division (GO:0007067)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	actin filament binding (GO:0051015)|GTP-Rho binding (GO:0017049)|myosin II binding (GO:0045159)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					TCTGGGGGCTCCCGGGGCTCA	0.716													C|||	1	0.000199681	0	0	5008	,	,		12887	0		0.001	False		,,,				2504	0					ENST00000406386.3																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						c.(3754-3756)tCc>tTc		TRIO and F-actin binding protein							19	25	23					22																	38122318		1884	4061	5945	SO:0001583	missense	11078				actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding	g.chr22:38122318C>T	AB051449	CCDS33644.1, CCDS43015.1, CCDS43016.1	22q13.1	2014-06-03			ENSG00000100106	ENSG00000100106		"Pleckstrin homology (PH) domain containing"	17009	protein-coding gene	gene with protein product		609761		DFNB28		11148140, 16385457, 16385458	Standard	NM_001039141		Approved	HRIHFB2122, KIAA1662, Tara, TAP68	uc003atr.3	Q9H2D6	OTTHUMG00000150657	ENST00000406386.3:c.3755C>T	22.37:g.38122318C>T	ENSP00000384312:p.Ser1252Phe					RP1-37E16.12_ENST00000455236.1_RNA	p.S1252F	NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN			7	4010	+	Melanoma(58;0.0574)		1252					B1AHD4|B1AHD7|F2Z2W0|F8W6V6|O94797|Q2PZW8|Q2Q3Z9|Q2Q400|Q5R3M6|Q96DW1|Q9BT77|Q9BTL7|Q9BY98|Q9Y3L4	Missense_Mutation	SNP	ENST00000406386.3	37	c.3755C>T	CCDS43015.1	.	.	.	.	.	.	.	.	.	.	C	15.94	2.980577	0.53827	.	.	ENSG00000100106	ENST00000406386;ENST00000417174	T	0.26810	1.71	5.38	1.86	0.25419	.	.	.	.	.	T	0.14442	0.0349	L	0.27053	0.805	0.80722	D	1	P	0.38167	0.621	B	0.30572	0.117	T	0.09751	-1.0660	9	0.72032	D	0.01	.	8.2176	0.31521	0.2766:0.6467:0.0:0.0767	.	1252	Q9H2D6	TARA_HUMAN	F	1252	ENSP00000384312:S1252F	ENSP00000384312:S1252F	S	+	2	0	TRIOBP	36452264	1.000000	0.71417	0.999000	0.59377	0.422000	0.31414	2.547000	0.45786	1.223000	0.43536	0.456000	0.33151	TCC		0.716	TRIOBP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319439.2			6	47	0	0	0	1	0	6	47					T	38122318	C	T	38122318	3	4	358	1	0	0	0	0	1	0	0	0	16550	855	30	3	3773	3	TRIOBP	22	38122318	Missense_Mutation	SNP	C	TCGA-MG-AAMC-01A-11D-A41K-08	7431294	38122318	13182248	29	17926											
TRIM46	80128	broad.mit.edu	37	chr1	155147951	155147951	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtgctgccctgtacccacaaCgtgtgccaggcctgtgcccg	5	8	12	16	2	0	0	0	0	0	0	0	0	0	0	5	1	6	2	5	1	2	1	rs149212033		TCGA-QU-A6IL-01A-11D-A31L-08	TCGA-QU-A6IL-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d5ce82e-de92-420b-abab-003d7bee208e	c2fe33a1-6c76-42e6-9708-e7ea911d2f85	g.chr1:155147951C>T	ENST00000334634.4	+	2	153	c.153C>T	c.(151-153)aaC>aaT	p.N51N	TRIM46_ENST00000543729.1_Silent_p.N58N|TRIM46_ENST00000545012.1_Intron|TRIM46_ENST00000468878.1_3'UTR|KRTCAP2_ENST00000490672.1_5'Flank|KRTCAP2_ENST00000295682.4_5'Flank|TRIM46_ENST00000368383.3_Silent_p.N51N|TRIM46_ENST00000392451.2_Silent_p.N51N|TRIM46_ENST00000368382.1_Silent_p.N28N|TRIM46_ENST00000368385.4_Silent_p.N51N|RP11-201K10.3_ENST00000473363.2_Intron	NM_001256601.1|NM_001282378.1	NP_001243530.1|NP_001269307.1	Q7Z4K8	TRI46_HUMAN	tripartite motif containing 46	51						intracellular (GO:0005622)	zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	29	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;6.62e-10)|all cancers(21;2.68e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			GTACCCACAACGTGTGCCAGG	0.607																																						ENST00000392451.2																			0				NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	29						c.(151-153)aaC>aaT		tripartite motif containing 46		C		0,4406		0,0,2203	136	110	119		153	-0.8	1	1	dbSNP_134	119	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	TRIM46	NM_025058.3		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		51/760	155147951	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	80128					intracellular	zinc ion binding	g.chr1:155147951C>T		CCDS1097.1, CCDS58033.1, CCDS60285.1, CCDS72932.1, CCDS72931.1	1q22	2013-01-09	2011-01-25		ENSG00000163462	ENSG00000163462		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	19019	protein-coding gene	gene with protein product		600986	"tripartite motif-containing 46"				Standard	NM_025058		Approved	FLJ23229, TRIFIC	uc001fhs.2	Q7Z4K8	OTTHUMG00000035680	ENST00000334634.4:c.153C>T	1.37:g.155147951C>T						TRIM46_ENST00000545012.1_Intron|TRIM46_ENST00000543729.1_Silent_p.N58N|TRIM46_ENST00000334634.4_Silent_p.N51N|TRIM46_ENST00000368385.4_Silent_p.N51N|TRIM46_ENST00000368382.1_Silent_p.N28N|TRIM46_ENST00000368383.3_Silent_p.N51N|TRIM46_ENST00000468878.1_3'UTR	p.N51N			Q7Z4K8	TRI46_HUMAN	Epithelial(20;6.62e-10)|all cancers(21;2.68e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)		2	236	+	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		51					A0AVI6|B1AVQ4|Q5VT60|Q5VT62|Q6NT17|Q6NT41|Q6ZRL7|Q9H5P2	Silent	SNP	ENST00000334634.4	37	c.153C>T	CCDS1097.1																																																																																				0.607	TRIM46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086728.1	NM_025058		13	169	0	0	0	1	0	13	169					T	155147951	C	T	155147951	2	4	359	1	0	0	0	0	0	0	0	1	16518	535	19	1		1	TRIM46	1	155147951	Silent	SNP	C	TCGA-QU-A6IL-01A-11D-A31L-08		155147951	94102670	1	17927											
DISC1	27185	broad.mit.edu	37	chr1	231931019	231931019	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaataaaatccctcaacttgTcacttaaagaaatcactact	17	11	3	10	0	3	1	3	0	0	1	4	2	4	1	1	0	2	0	1	0	8	4			TCGA-QU-A6IL-01A-11D-A31L-08	TCGA-QU-A6IL-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d5ce82e-de92-420b-abab-003d7bee208e	c2fe33a1-6c76-42e6-9708-e7ea911d2f85	g.chr1:231931019T>C	ENST00000602281.1	+	7	1719	c.1666T>C	c.(1666-1668)Tca>Cca	p.S556P	DISC1_ENST00000535983.1_Missense_Mutation_p.S556P|TSNAX-DISC1_ENST00000602962.1_3'UTR|DISC1_ENST00000366637.3_5'UTR|DISC1_ENST00000537876.1_Intron|DISC1_ENST00000366636.4_Missense_Mutation_p.S556P|DISC1_ENST00000602873.1_Intron|DISC1_ENST00000539444.1_Missense_Mutation_p.S556P|DISC1_ENST00000366633.3_Missense_Mutation_p.S556P|DISC1_ENST00000439617.2_Missense_Mutation_p.S556P	NM_001164542.1|NM_001164544.1	NP_001158014.1|NP_001158016.1	Q9NRI5	DISC1_HUMAN	disrupted in schizophrenia 1	556	Interaction with TRAF3IP1.|Necessary and sufficient for interaction with PCNT and localization at the centrosome.|Required for localization to punctate cytoplasmic foci.				canonical Wnt signaling pathway (GO:0060070)|cell proliferation in forebrain (GO:0021846)|cellular protein localization (GO:0034613)|cerebral cortex radially oriented cell migration (GO:0021799)|microtubule cytoskeleton organization (GO:0000226)|mitochondrial calcium ion homeostasis (GO:0051560)|neuron migration (GO:0001764)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of neuron projection development (GO:0010975)|regulation of synapse maturation (GO:0090128)|TOR signaling (GO:0031929)	cell junction (GO:0030054)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|postsynaptic membrane (GO:0045211)				breast(1)|cervix(1)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	15		all_cancers(173;0.0208)|Prostate(94;0.0975)				CCTCAACTTGTCACTTAAAGA	0.348																																						ENST00000439617.2																			0				breast(1)|cervix(1)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	15						c.(1666-1668)Tca>Cca		disrupted in schizophrenia 1							84	85	84					1																	231931019		2203	4300	6503	SO:0001583	missense	27185				microtubule cytoskeleton organization|neuron migration|positive regulation of neuroblast proliferation|positive regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway	centrosome|microtubule	protein binding	g.chr1:231931019T>C	AF222980	CCDS31055.1, CCDS31056.1, CCDS53482.1, CCDS53483.1, CCDS53484.1, CCDS59205.1, CCDS59206.1, CCDS59207.1	1q42.1	2008-02-05			ENSG00000162946	ENSG00000162946			2888	protein-coding gene	gene with protein product		605210				10814723	Standard	NM_001164550		Approved		uc010pxh.2	Q9NRI5	OTTHUMG00000037835	ENST00000602281.1:c.1666T>C	1.37:g.231931019T>C	ENSP00000473425:p.Ser556Pro					DISC1_ENST00000602281.1_Missense_Mutation_p.S556P|DISC1_ENST00000366633.3_Missense_Mutation_p.S556P|DISC1_ENST00000366637.3_5'UTR|DISC1_ENST00000602873.1_Intron|DISC1_ENST00000537876.1_Intron|TRAX_ENST00000602962.1_3'UTR|DISC1_ENST00000535983.1_Missense_Mutation_p.S556P|DISC1_ENST00000539444.1_Missense_Mutation_p.S556P|DISC1_ENST00000366636.4_Missense_Mutation_p.S556P	p.S556P	NM_001164537.1|NM_001164540.1|NM_018662.2	NP_001158009.1|NP_001158012.1|NP_061132.2	Q9NRI5	DISC1_HUMAN			7	1719	+		all_cancers(173;0.0208)|Prostate(94;0.0975)	556			Interaction with TRAF3IP1.|Necessary and sufficient for interaction with PCNT and localization at the centrosome.|Required for localization to punctate cytoplasmic foci.		A6NLH2|C4P091|C4P095|C4P0A1|C4P0A3|C4P0B3|C4P0B6|C4P0C1|C9J6D0|O75045|Q5VT44|Q5VT45|Q8IXJ0|Q8IXJ1|Q9BX19|Q9NRI3|Q9NRI4	Missense_Mutation	SNP	ENST00000602281.1	37	c.1666T>C	CCDS59205.1	.	.	.	.	.	.	.	.	.	.	T	19.03	3.747697	0.69533	.	.	ENSG00000162946	ENST00000439617;ENST00000366637;ENST00000366636;ENST00000366638;ENST00000532576;ENST00000535983;ENST00000366633;ENST00000539444	T;T;T;T;T	0.78595	-1.19;-1.19;-1.19;-1.19;-1.19	4.72	0.784	0.18578	.	0.145939	0.46758	N	0.000262	T	0.81503	0.4836	L	0.59436	1.845	0.80722	D	1	D;P;D;D;D;B;D;D;D;D;D;D;D;D;D;D	0.76494	0.999;0.617;0.999;0.999;0.999;0.368;0.999;0.999;0.999;0.998;0.999;0.996;0.993;0.996;0.993;0.998	D;B;D;D;D;B;D;D;D;D;D;D;P;D;P;D	0.71656	0.962;0.221;0.972;0.952;0.974;0.15;0.931;0.974;0.952;0.916;0.952;0.931;0.827;0.931;0.827;0.942	T	0.78768	-0.2075	10	0.66056	D	0.02	-2.0878	6.7341	0.23399	0.0:0.0808:0.2977:0.6216	.	588;434;588;556;556;434;556;556;556;556;556;556;556;556;556;556	C4P096;C4P094;E2QRA4;C4P0A3;C4P098;F5H1F1;C4P0A4;A6NLH2;C4P095;C4P0B6;C4P0B1;A7E2W8;Q5T409;Q9NRI5-2;Q9NRI5;Q9NRI5-3	.;.;.;.;.;.;.;.;.;.;.;.;.;.;DISC1_HUMAN;.	P	556;556;556;588;434;556;556;556	ENSP00000403888:S556P;ENSP00000355596:S556P;ENSP00000443996:S556P;ENSP00000355593:S556P;ENSP00000440953:S556P	ENSP00000355593:S556P	S	+	1	0	DISC1	229997642	1.000000	0.71417	0.973000	0.42090	0.988000	0.76386	2.319000	0.43788	0.368000	0.24481	0.455000	0.32223	TCA		0.348	DISC1-019	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000467451.1	NM_018662		6	46	0	0	0	1	0	6	46					C	231931019	T	C	231931019	3	2	359	1	0	0	0	0	1	0	0	0	4538	1667	58	4	2065	4	DISC1	1	231931019	Missense_Mutation	SNP	T	TCGA-QU-A6IL-01A-11D-A31L-08	76783068	231931019	17319602	2	17928											
GKN2	200504	broad.mit.edu	37	chr2	69173530	69173530	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aaccaatccacgtctttgatCagagactccagagggttgta	12	10	9	10	1	2	3	1	1	1	2	4	4	4	3	3	1	1	2	3	1	3	3			TCGA-QU-A6IL-01A-11D-A31L-08	TCGA-QU-A6IL-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d5ce82e-de92-420b-abab-003d7bee208e	c2fe33a1-6c76-42e6-9708-e7ea911d2f85	g.chr2:69173530C>G	ENST00000328895.4	-	5	486	c.378G>C	c.(376-378)ctG>ctC	p.L126L	GKN2_ENST00000481498.1_Silent_p.L126L	NM_182536.2	NP_872342.2	Q86XP6	GKN2_HUMAN	gastrokine 2	126	BRICHOS. {ECO:0000255|PROSITE- ProRule:PRU00255}.					extracellular region (GO:0005576)				autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|urinary_tract(1)	15						CGTCTTTGATCAGAGACTCCA	0.433																																						ENST00000481498.1																			0				autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|urinary_tract(1)	15						c.(376-378)ctG>ctC		gastrokine 2							198	185	189					2																	69173530		2203	4300	6503	SO:0001819	synonymous_variant	200504					extracellular region		g.chr2:69173530C>G	AF494509	CCDS33215.1	2p14	2012-10-10			ENSG00000183607	ENSG00000183607		"BRICHOS domain containing"	24588	protein-coding gene	gene with protein product	"down regulated in gastric cancer GDDR", "BRICHOS domain containing 1B"					15774165, 15924415, 16888721	Standard	NM_182536		Approved	TFIZ1, PRO813, VLTI465, blottin, GDDR, BRICD1B	uc002sfa.3	Q86XP6	OTTHUMG00000152655	ENST00000328895.4:c.378G>C	2.37:g.69173530C>G						GKN2_ENST00000328895.4_Silent_p.L126L	p.L126L			Q86XP6	GKN2_HUMAN			5	396	-			126			BRICHOS.		Q6UWS6	Silent	SNP	ENST00000328895.4	37	c.378G>C	CCDS33215.1																																																																																				0.433	GKN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327191.1	NM_182536		82	102	0	0	0	1	0	82	102					G	69173530	C	G	69173530	2	3	359	1	0	0	0	0	0	0	0	1	6425	813	29	5		5	GKN2	2	69173530	Silent	SNP	C	TCGA-QU-A6IL-01A-11D-A31L-08		69173530	174025843	3	17929											
DLX2	1746	broad.mit.edu	37	chr2	172967129	172967131	+	In_Frame_Del	DEL	GCT	GCT	-																															gactcctggggcttgtggagGctgctgctgctgctgctgtt																								rs376692475		TCGA-QU-A6IL-01A-11D-A31L-08	TCGA-QU-A6IL-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d5ce82e-de92-420b-abab-003d7bee208e	c2fe33a1-6c76-42e6-9708-e7ea911d2f85	g.chr2:172967129_172967131delGCT	ENST00000234198.4	-	1	497_499	c.136_138delAGC	c.(136-138)agcdel	p.S46del	DLX2_ENST00000466293.2_In_Frame_Del_p.S46del|AC104801.1_ENST00000448117.1_lincRNA	NM_004405.3	NP_004396.1	Q07687	DLX2_HUMAN	distal-less homeobox 2	46	Poly-Ser.				brain development (GO:0007420)|branching morphogenesis of a nerve (GO:0048755)|cartilage development (GO:0051216)|cerebral cortex GABAergic interneuron fate commitment (GO:0021893)|embryonic cranial skeleton morphogenesis (GO:0048701)|hippocampus development (GO:0021766)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|odontogenesis of dentin-containing tooth (GO:0042475)|olfactory bulb development (GO:0021772)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proximal/distal pattern formation (GO:0009954)|regulation of transcription from RNA polymerase II promoter involved in forebrain neuron fate commitment (GO:0021882)|subpallium development (GO:0021544)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded RNA binding (GO:0003727)			endometrium(1)|large_intestine(1)|lung(6)|ovary(2)|urinary_tract(1)	11			OV - Ovarian serous cystadenocarcinoma(117;0.216)			GCTTGTGGAGgctgctgctgctg	0.739																																					GBM(188;775 2993 11256 23072)	ENST00000234198.4																			0				endometrium(1)|large_intestine(1)|lung(6)|ovary(2)|urinary_tract(1)	11						c.(136-138)del		distal-less homeobox 2				19,76,3319		3,0,13,8,60,1623						4.5	1			15	96,156,6524		10,3,73,15,123,3164	no	codingComplex	DLX2	NM_004405.3		13,3,86,23,183,4787	A1A1,A1A2,A1R,A2A2,A2R,RR		3.719,2.7827,3.4053				115,232,9843				SO:0001651	inframe_deletion	1746					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:172967129_172967131delGCT	U51003	CCDS2248.1	2q31.1	2011-06-20	2005-12-22		ENSG00000115844	ENSG00000115844		"Homeoboxes / ANTP class : NKL subclass"	2915	protein-coding gene	gene with protein product		126255	"distal-less homeo box 2"			1354641	Standard	NM_004405		Approved	TES-1	uc002uhn.3	Q07687	OTTHUMG00000132276	ENST00000234198.4:c.136_138delAGC	2.37:g.172967138_172967140delGCT	ENSP00000234198:p.Ser46del					DLX2_ENST00000466293.2_In_Frame_Del_p.S46del	p.S46del	NM_004405.3	NP_004396.1	Q07687	DLX2_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.216)		1	497_499	-			46			Poly-Ser.		B4DMK4|B7ZA14	In_Frame_Del	DEL	ENST00000234198.4	37	c.136_138delAGC	CCDS2248.1																																																																																				0.739	DLX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255368.3			2	4						2	4	---	---	---	---	-	172967131	GCT	-	172967129	7	5	359	1	0	1	0	1	0	0	0	0	4571	1194	42	0	860	0	DLX2	2	172967129	In_Frame_Del	DEL	GCT	TCGA-QU-A6IL-01A-11D-A31L-08	103793599	172967129	70232244	4	17930											
CUL3	8452	broad.mit.edu	37	chr2	225362501	225362501	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtccataaaatgtggcattgAgatctgcagaacccatatga	14	10	9	8	0	1	3	0	2	1	2	2	4	2	3	2	1	2	2	2	1	4	3			TCGA-QU-A6IL-01A-11D-A31L-08	TCGA-QU-A6IL-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d5ce82e-de92-420b-abab-003d7bee208e	c2fe33a1-6c76-42e6-9708-e7ea911d2f85	g.chr2:225362501A>C	ENST00000264414.4	-	12	2014	c.1676T>G	c.(1675-1677)cTc>cGc	p.L559R	CUL3_ENST00000409096.1_Missense_Mutation_p.L535R|CUL3_ENST00000344951.4_Missense_Mutation_p.L493R|CUL3_ENST00000409777.1_Missense_Mutation_p.L535R	NM_003590.4	NP_003581.1	Q13618	CUL3_HUMAN	cullin 3	559					cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|COPII vesicle coating (GO:0048208)|cyclin catabolic process (GO:0008054)|embryonic cleavage (GO:0040016)|ER to Golgi vesicle-mediated transport (GO:0006888)|G1/S transition of mitotic cell cycle (GO:0000082)|gastrulation (GO:0007369)|integrin-mediated signaling pathway (GO:0007229)|intrinsic apoptotic signaling pathway (GO:0097193)|mitotic metaphase plate congression (GO:0007080)|negative regulation of Rho protein signal transduction (GO:0035024)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokinesis (GO:0032467)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|stem cell division (GO:0017145)|stress fiber assembly (GO:0043149)|trophectodermal cellular morphogenesis (GO:0001831)|Wnt signaling pathway (GO:0016055)	Cul3-RING ubiquitin ligase complex (GO:0031463)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|membrane (GO:0016020)|nucleus (GO:0005634)|polar microtubule (GO:0005827)	POZ domain binding (GO:0031208)			endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(2)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	46		all_lung(227;0.00877)|Lung NSC(271;0.011)|Renal(207;0.0112)|all_hematologic(139;0.138)		Epithelial(121;1.58e-11)|all cancers(144;1.43e-08)|Lung(261;0.00863)|LUSC - Lung squamous cell carcinoma(224;0.00902)		TGTGGCATTGAGATCTGCAGA	0.353																																						ENST00000264414.4																			0				endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(2)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	46						c.(1675-1677)cTc>cGc		cullin 3							145	137	140					2																	225362501		2203	4300	6503	SO:0001583	missense	8452				cell cycle arrest|cell migration|cyclin catabolic process|cytokinesis|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|mitotic anaphase|negative regulation of Rho protein signal transduction|positive regulation of cell proliferation|protein ubiquitination|stress fiber assembly	Cul3-RING ubiquitin ligase complex|Golgi apparatus|nucleus|polar microtubule	ubiquitin protein ligase binding	g.chr2:225362501A>C	U58089	CCDS2462.1, CCDS58751.1	2q36.2	2011-05-24			ENSG00000036257	ENSG00000036257			2553	protein-coding gene	gene with protein product		603136				8681378, 17192413	Standard	NM_003590		Approved		uc002vny.3	Q13618	OTTHUMG00000133167	ENST00000264414.4:c.1676T>G	2.37:g.225362501A>C	ENSP00000264414:p.Leu559Arg					CUL3_ENST00000409777.1_Missense_Mutation_p.L535R|CUL3_ENST00000409096.1_Missense_Mutation_p.L535R|CUL3_ENST00000344951.4_Missense_Mutation_p.L493R	p.L559R	NM_003590.4	NP_003581.1	Q13618	CUL3_HUMAN		Epithelial(121;1.58e-11)|all cancers(144;1.43e-08)|Lung(261;0.00863)|LUSC - Lung squamous cell carcinoma(224;0.00902)	12	2014	-		all_lung(227;0.00877)|Lung NSC(271;0.011)|Renal(207;0.0112)|all_hematologic(139;0.138)	559					A8K536|B8ZZC3|O75415|Q569L3|Q9UBI8|Q9UET7	Missense_Mutation	SNP	ENST00000264414.4	37	c.1676T>G	CCDS2462.1	.	.	.	.	.	.	.	.	.	.	A	28.8	4.947647	0.92593	.	.	ENSG00000036257	ENST00000264414;ENST00000344951;ENST00000409096;ENST00000409777	T;T;T;T	0.80214	-1.35;-1.35;-1.35;-1.35	6.16	6.16	0.99307	Cullin, N-terminal (1);Cullin homology (3);	0.000000	0.85682	D	0.000000	D	0.92227	0.7535	M	0.93375	3.41	0.80722	D	1	D;D;D;D	0.64830	0.987;0.99;0.993;0.994	D;D;D;D	0.69654	0.917;0.932;0.942;0.965	D	0.93914	0.7199	10	0.87932	D	0	.	16.8061	0.85666	1.0:0.0:0.0:0.0	.	493;537;535;559	Q13618-3;Q53S54;Q13618-2;Q13618	.;.;.;CUL3_HUMAN	R	559;493;535;535	ENSP00000264414:L559R;ENSP00000343601:L493R;ENSP00000387200:L535R;ENSP00000386525:L535R	ENSP00000264414:L559R	L	-	2	0	CUL3	225070745	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.319000	0.96338	2.367000	0.80283	0.528000	0.53228	CTC		0.353	CUL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256871.2			32	63	0	0	0	1	0	32	63					C	225362501	A	C	225362501	3	2	359	1	0	0	0	0	1	0	0	0	4056	304	11	5	650	5	CUL3	2	225362501	Missense_Mutation	SNP	A	TCGA-QU-A6IL-01A-11D-A31L-08	52395372	225362501	17836872	5	17931											
SPHKAP	80309	broad.mit.edu	37	chr2	228846444	228846444	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	actgccttattatcccagttCcaagagccagtcaaagagac	13	9	7	12	0	1	2	1	0	0	2	3	3	3	2	4	0	2	1	4	0	4	3			TCGA-QU-A6IL-01A-11D-A31L-08	TCGA-QU-A6IL-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d5ce82e-de92-420b-abab-003d7bee208e	c2fe33a1-6c76-42e6-9708-e7ea911d2f85	g.chr2:228846444C>A	ENST00000392056.3	-	12	5138	c.5092G>T	c.(5092-5094)Gaa>Taa	p.E1698*	SPHKAP_ENST00000344657.5_Nonsense_Mutation_p.E1669*	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	1698						extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|Z disc (GO:0030018)	protein kinase A binding (GO:0051018)			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		TATCCCAGTTCCAAGAGCCAG	0.428																																						ENST00000392056.3																			0				NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185						c.(5092-5094)Gaa>Taa		SPHK1 interactor, AKAP domain containing							100	89	93					2																	228846444		2203	4300	6503	SO:0001587	stop_gained	80309					cytoplasm	protein binding	g.chr2:228846444C>A		CCDS33389.1, CCDS46537.1	2q36.3	2010-08-20			ENSG00000153820	ENSG00000153820		"A-kinase anchor proteins"	30619	protein-coding gene	gene with protein product	"sphingosine kinase type 1-interacting protein"	611646				12080051, 11214970	Standard	NM_030623		Approved	SKIP	uc002vpq.2	Q2M3C7	OTTHUMG00000153584	ENST00000392056.3:c.5092G>T	2.37:g.228846444C>A	ENSP00000375909:p.Glu1698*					SPHKAP_ENST00000344657.5_Nonsense_Mutation_p.E1669*	p.E1698*	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)	12	5138	-		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)	1698					Q68DA3|Q68DR8|Q9C0I5	Nonsense_Mutation	SNP	ENST00000392056.3	37	c.5092G>T	CCDS46537.1	.	.	.	.	.	.	.	.	.	.	C	44	10.773435	0.99465	.	.	ENSG00000153820	ENST00000392056;ENST00000344657	.	.	.	5.66	5.66	0.87406	.	0.211081	0.48767	D	0.000169	.	.	.	.	.	.	0.46749	D	0.999188	.	.	.	.	.	.	.	.	.	.	0.48119	T	0.1	.	18.7499	0.91810	0.0:1.0:0.0:0.0	.	.	.	.	X	1698;1669	.	ENSP00000339886:E1669X	E	-	1	0	SPHKAP	228554688	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	4.491000	0.60326	2.671000	0.90904	0.655000	0.94253	GAA		0.428	SPHKAP-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331750.1	NM_030623		7	73	1	0	0.00448238	1	0.00465478	7	73					A	228846444	C	A	228846444	4	1	359	1	0	0	0	0	0	1	0	0	15047	864	30	5	14	5	SPHKAP	2	228846444	Nonsense_Mutation	SNP	C	TCGA-QU-A6IL-01A-11D-A31L-08	3483943	228846444	14352929	6	17932											
SCN5A	6331	broad.mit.edu	37	chr3	38651315	38651315	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gttgagcgctgtgaagttgcGcacgcacttgtgccttaggt	6	12	14	9	3	0	2	0	2	0	0	0	2	0	2	1	1	3	5	1	1	2	4	rs199473082		TCGA-QU-A6IL-01A-11D-A31L-08	TCGA-QU-A6IL-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d5ce82e-de92-420b-abab-003d7bee208e	c2fe33a1-6c76-42e6-9708-e7ea911d2f85	g.chr3:38651315G>A	ENST00000333535.4	-	7	993	c.844C>T	c.(844-846)Cgc>Tgc	p.R282C	SCN5A_ENST00000450102.2_Missense_Mutation_p.R282C|SCN5A_ENST00000425664.1_Missense_Mutation_p.R282C|SCN5A_ENST00000443581.1_Missense_Mutation_p.R282C|SCN5A_ENST00000455624.2_Missense_Mutation_p.R282C|SCN5A_ENST00000414099.2_Missense_Mutation_p.R282C|SCN5A_ENST00000423572.2_Missense_Mutation_p.R282C|SCN5A_ENST00000451551.2_Missense_Mutation_p.R282C|SCN5A_ENST00000413689.1_Missense_Mutation_p.R282C|SCN5A_ENST00000449557.2_Missense_Mutation_p.R282C			Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	282			R -> H (in BRGDA1). {ECO:0000269|PubMed:11901046}.		AV node cell to bundle of His cell communication (GO:0086067)|brainstem development (GO:0003360)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cardiac muscle cell action potential involved in contraction (GO:0086002)|cardiac muscle contraction (GO:0060048)|cardiac ventricle development (GO:0003231)|cellular response to calcium ion (GO:0071277)|cerebellum development (GO:0021549)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane depolarization during SA node cell action potential (GO:0086046)|neuronal action potential (GO:0019228)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of action potential (GO:0045760)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of sodium ion transport (GO:0010765)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of sodium ion transmembrane transport (GO:1902305)|regulation of ventricular cardiac muscle cell membrane depolarization (GO:0060373)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|telencephalon development (GO:0021537)|ventricular cardiac muscle cell action potential (GO:0086005)	caveola (GO:0005901)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	ankyrin binding (GO:0030506)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|fibroblast growth factor binding (GO:0017134)|ion channel binding (GO:0044325)|nitric-oxide synthase binding (GO:0050998)|protein kinase binding (GO:0019901)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)|voltage-gated sodium channel activity (GO:0005248)|voltage-gated sodium channel activity involved in cardiac muscle cell action potential (GO:0086006)			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Ajmaline(DB01426)|Aprindine(DB01429)|Benzonatate(DB00868)|Carbamazepine(DB00564)|Cinchocaine(DB00527)|Cocaine(DB00907)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lidocaine(DB00281)|Mexiletine(DB00379)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine barbiturate(DB01346)|Quinidine(DB00908)|Ranolazine(DB00243)|Riluzole(DB00740)|Tocainide(DB01056)|Valproic Acid(DB00313)|Verapamil(DB00661)|Zonisamide(DB00909)	GTGAAGTTGCGCACGCACTTG	0.587																																						ENST00000413689.1																			0				NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107						c.(844-846)Cgc>Tgc		sodium channel, voltage-gated, type V, alpha subunit	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)						77	82	80					3																	38651315		2174	4275	6449	SO:0001583	missense	6331				blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity	g.chr3:38651315G>A	AJ310893	CCDS46796.1, CCDS46797.1, CCDS46798.1, CCDS46799.1, CCDS54569.1, CCDS54570.1	3p21	2014-09-17	2007-01-23		ENSG00000183873	ENSG00000183873		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10593	protein-coding gene	gene with protein product	"long QT syndrome 3"	600163	"sodium channel, voltage-gated, type V, alpha (long QT syndrome 3)"	CMD1E		7842012, 15466643, 16382098	Standard	NM_198056		Approved	Nav1.5, LQT3, HB1, HBBD, PFHB1, IVF, HB2, HH1, SSS1, CDCD2, CMPD2, ICCD	uc021wvl.1	Q14524	OTTHUMG00000156166	ENST00000333535.4:c.844C>T	3.37:g.38651315G>A	ENSP00000328968:p.Arg282Cys					SCN5A_ENST00000414099.2_Missense_Mutation_p.R282C|SCN5A_ENST00000451551.2_Missense_Mutation_p.R282C|SCN5A_ENST00000455624.2_Missense_Mutation_p.R282C|SCN5A_ENST00000425664.1_Missense_Mutation_p.R282C|SCN5A_ENST00000423572.2_Missense_Mutation_p.R282C|SCN5A_ENST00000333535.4_Missense_Mutation_p.R282C|SCN5A_ENST00000443581.1_Missense_Mutation_p.R282C|SCN5A_ENST00000450102.2_Missense_Mutation_p.R282C|SCN5A_ENST00000449557.2_Missense_Mutation_p.R282C	p.R282C	NM_001099404.1|NM_001160160.1	NP_001092874.1|NP_001153632.1	Q14524	SCN5A_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	7	1037	-	Medulloblastoma(35;0.163)		282		R -> H (in BRS1).			A5H1P8|A6N922|A6N923|B2RTU0|E7ET19|E9PEF3|E9PEK2|E9PFW7|Q59H93|Q75RX9|Q75RY0|Q86UR3|Q8IZC9|Q96J69	Missense_Mutation	SNP	ENST00000333535.4	37	c.844C>T	CCDS46796.1	.	.	.	.	.	.	.	.	.	.	G	19.92	3.916020	0.73098	.	.	ENSG00000183873	ENST00000414099;ENST00000423572;ENST00000413689;ENST00000451551;ENST00000443581;ENST00000425664;ENST00000333535;ENST00000455624;ENST00000450102;ENST00000449557;ENST00000399254	D;D;D;D;D;D;D;D;D;D	0.98684	-5.07;-5.07;-5.07;-5.07;-5.07;-5.07;-5.07;-5.07;-5.07;-5.07	5.34	4.45	0.53987	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.98874	0.9619	M	0.74546	2.27	0.53688	D	0.999979	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.87578	0.98;0.997;0.998;0.98;0.98;0.97;0.966	D	0.99457	1.0942	10	0.56958	D	0.05	.	13.1616	0.59547	0.0:0.0:0.597:0.403	.	282;282;282;282;282;282;282	E9PEF3;Q14524-3;E9PHB6;E9PG18;Q14524;Q14524-2;E9PEK2	.;.;.;.;SCN5A_HUMAN;.;.	C	282;282;282;282;282;282;282;282;282;282;92	ENSP00000398962:R282C;ENSP00000398266:R282C;ENSP00000410257:R282C;ENSP00000388797:R282C;ENSP00000397915:R282C;ENSP00000416634:R282C;ENSP00000328968:R282C;ENSP00000399524:R282C;ENSP00000403355:R282C;ENSP00000413996:R282C	ENSP00000328968:R282C	R	-	1	0	SCN5A	38626319	1.000000	0.71417	0.996000	0.52242	0.868000	0.49771	4.252000	0.58785	1.448000	0.47680	0.655000	0.94253	CGC		0.587	SCN5A-014	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000377958.1	NM_198056		57	55	0	0	0	1	0	57	55					A	38651315	G	A	38651315	3	1	359	1	0	0	0	0	1	0	0	0	13922	1087	38	1	5294	1	SCN5A	3	38651315	Missense_Mutation	SNP	G	TCGA-QU-A6IL-01A-11D-A31L-08		38651315	159371115	7	17933											
VPRBP	9730	broad.mit.edu	37	chr3	51457368	51457368	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aggtggcaactggattcttgCagcgagcatgttgttctcta	8	13	12	8	1	2	0	0	0	2	0	3	2	2	1	0	3	4	5	0	3	2	5			TCGA-QU-A6IL-01A-11D-A31L-08	TCGA-QU-A6IL-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d5ce82e-de92-420b-abab-003d7bee208e	c2fe33a1-6c76-42e6-9708-e7ea911d2f85	g.chr3:51457368C>T	ENST00000335891.5	-	7	1718	c.1709G>A	c.(1708-1710)tGc>tAc	p.C570Y				Q9Y4B6	VPRBP_HUMAN	Vpr (HIV-1) binding protein	1019	Chromo.				B cell differentiation (GO:0030183)|cell competition in a multicellular organism (GO:0035212)|histone H2A-T120 phosphorylation (GO:1990245)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|protein ubiquitination (GO:0016567)|transcription, DNA-templated (GO:0006351)|V(D)J recombination (GO:0033151)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|histone kinase activity (H2A-T120 specific) (GO:1990244)			breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	41				BRCA - Breast invasive adenocarcinoma(193;0.000272)|Kidney(197;0.000729)|KIRC - Kidney renal clear cell carcinoma(197;0.000875)		TGGATTCTTGCAGCGAGCATG	0.488																																						ENST00000335891.5																			0				breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	41						c.(1708-1710)tGc>tAc		Vpr (HIV-1) binding protein							215	214	214					3																	51457368		2028	4175	6203	SO:0001583	missense	9730				interspecies interaction between organisms	cytoplasm|nucleus	protein binding	g.chr3:51457368C>T	AB018343	CCDS74943.1, CCDS74944.1	3p21.2	2011-06-17			ENSG00000145041	ENSG00000145041		"DDB1 and CUL4 associated factors"	30911	protein-coding gene	gene with protein product	"DDB1 and CUL4 associated factor 1"					8195203, 11223251	Standard	NM_014703		Approved	KIAA0800, MGC102804, DCAF1	uc003dbe.2	Q9Y4B6	OTTHUMG00000156895	ENST00000335891.5:c.1709G>A	3.37:g.51457368C>T	ENSP00000338857:p.Cys570Tyr						p.C570Y			Q9Y4B6	VPRBP_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000272)|Kidney(197;0.000729)|KIRC - Kidney renal clear cell carcinoma(197;0.000875)	7	1718	-			1019					Q2YD74|Q8TBD9|Q9HCA1|Q9UG37	Missense_Mutation	SNP	ENST00000335891.5	37	c.1709G>A		.	.	.	.	.	.	.	.	.	.	C	19.12	3.766591	0.69878	.	.	ENSG00000145041	ENST00000423656;ENST00000335891	D;D	0.91631	-2.88;-2.79	5.88	5.88	0.94601	.	0.000000	0.85682	D	0.000000	D	0.96140	0.8742	M	0.75085	2.285	0.80722	D	1	D	0.60575	0.988	D	0.77004	0.989	D	0.95911	0.8923	10	0.87932	D	0	-10.084	20.3017	0.98615	0.0:1.0:0.0:0.0	.	1019	Q9Y4B6	VPRBP_HUMAN	Y	590;570	ENSP00000393183:C590Y;ENSP00000338857:C570Y	ENSP00000338857:C570Y	C	-	2	0	VPRBP	51432408	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.161000	0.77505	2.800000	0.96347	0.650000	0.86243	TGC		0.488	VPRBP-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_014703		5	164	0	0	0	1	0	5	164					T	51457368	C	T	51457368	3	4	359	1	0	0	0	0	1	0	0	0	17182	710	25	3	1511	3	VPRBP	3	51457368	Missense_Mutation	SNP	C	TCGA-QU-A6IL-01A-11D-A31L-08	12806053	51457368	146565062	8	17934											
WDR82	80335	broad.mit.edu	37	chr3	52304795	52304795	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatctgatgaggtccacaccAtatttcttactgtacagggt	10	14	8	9	0	2	2	0	2	2	0	3	2	3	2	2	2	2	1	2	2	4	5	rs558625924	byFrequency	TCGA-QU-A6IL-01A-11D-A31L-08	TCGA-QU-A6IL-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d5ce82e-de92-420b-abab-003d7bee208e	c2fe33a1-6c76-42e6-9708-e7ea911d2f85	g.chr3:52304795A>G	ENST00000296490.3	-	2	473	c.192T>C	c.(190-192)taT>taC	p.Y64Y	MIRLET7G_ENST00000362280.1_RNA	NM_025222.3	NP_079498.2	Q6UXN9	WDR82_HUMAN	WD repeat domain 82	64					histone H3-K4 methylation (GO:0051568)	chromatin (GO:0000785)|histone methyltransferase complex (GO:0035097)|PTW/PP1 phosphatase complex (GO:0072357)|Set1C/COMPASS complex (GO:0048188)	chromatin binding (GO:0003682)								BRCA - Breast invasive adenocarcinoma(193;2.67e-05)|Kidney(197;0.00198)|KIRC - Kidney renal clear cell carcinoma(197;0.00223)|OV - Ovarian serous cystadenocarcinoma(275;0.246)		GGTCCACACCATATTTCTTAC	0.383													A|||	2	0.000399361	0	0	5008	,	,		20018	0		0.002	False		,,,				2504	0					ENST00000296490.3																			0											c.(190-192)taT>taC		WD repeat domain 82							256	228	237					3																	52304795		1867	4104	5971	SO:0001819	synonymous_variant	80335				histone H3-K4 methylation	chromatin|PTW/PP1 phosphatase complex|Set1C/COMPASS complex	protein binding	g.chr3:52304795A>G	AF132207	CCDS2851.2	3p21.2	2013-01-10	2007-07-04	2007-07-04	ENSG00000164091	ENSG00000164091		"WD repeat domain containing"	28826	protein-coding gene	gene with protein product		611059	"transmembrane protein 113"	TMEM113		17355966	Standard	NM_025222		Approved	PRO2730, MST107, MSTP107, PRO34047, WDR82A, SWD2	uc003ddl.2	Q6UXN9	OTTHUMG00000150391	ENST00000296490.3:c.192T>C	3.37:g.52304795A>G							p.Y64Y	NM_025222.3	NP_079498.2	Q6UXN9	WDR82_HUMAN		BRCA - Breast invasive adenocarcinoma(193;2.67e-05)|Kidney(197;0.00198)|KIRC - Kidney renal clear cell carcinoma(197;0.00223)|OV - Ovarian serous cystadenocarcinoma(275;0.246)	2	473	-			64					A8K5R5|Q8TEB2	Silent	SNP	ENST00000296490.3	37	c.192T>C	CCDS2851.2																																																																																				0.383	WDR82-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317919.1	NM_025222		20	197	0	0	0	1	0	20	197					G	52304795	A	G	52304795	2	3	359	1	0	0	0	0	0	0	0	1	17328	224	8	4		4	WDR82	3	52304795	Silent	SNP	A	TCGA-QU-A6IL-01A-11D-A31L-08	847427	52304795	145717635	9	17935											
ROBO1	6091	broad.mit.edu	37	chr3	79639042	79639042	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtgatatcatgaccaaaaaaGgaacatgtttccatttcatc	15	12	6	8	0	2	2	2	2	0	0	4	3	3	3	2	1	1	1	2	1	5	3			TCGA-QU-A6IL-01A-11D-A31L-08	TCGA-QU-A6IL-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d5ce82e-de92-420b-abab-003d7bee208e	c2fe33a1-6c76-42e6-9708-e7ea911d2f85	g.chr3:79639042G>T	ENST00000464233.1	-	2	133	c.20C>A	c.(19-21)cCt>cAt	p.P7H		NM_002941.3	NP_002932.1	Q9Y6N7	ROBO1_HUMAN	roundabout, axon guidance receptor, homolog 1 (Drosophila)	7					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|cell adhesion (GO:0007155)|cell migration involved in sprouting angiogenesis (GO:0002042)|chemorepulsion involved in postnatal olfactory bulb interneuron migration (GO:0021836)|homophilic cell adhesion (GO:0007156)|mammary duct terminal end bud growth (GO:0060763)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|negative regulation of negative chemotaxis (GO:0050925)|nervous system development (GO:0007399)|positive regulation of axonogenesis (GO:0050772)|Roundabout signaling pathway (GO:0035385)	axolemma (GO:0030673)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	axon guidance receptor activity (GO:0008046)|identical protein binding (GO:0042802)|LRR domain binding (GO:0030275)	p.P7H(2)		breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1)	44		Lung SC(41;0.0257)|Lung NSC(201;0.0439)		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)		GACCAAAAAAGGAACATGTTT	0.383																																						ENST00000464233.1																			2	Substitution - Missense(2)	p.P7H(2)	haematopoietic_and_lymphoid_tissue(2)	breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1)	44						c.(19-21)cCt>cAt		roundabout, axon guidance receptor, homolog 1 (Drosophila)							170	165	167					3																	79639042		1899	4121	6020	SO:0001583	missense	6091				activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis|Roundabout signaling pathway	cell surface|cytoplasm|integral to plasma membrane	axon guidance receptor activity|identical protein binding|LRR domain binding	g.chr3:79639042G>T	AF040990	CCDS46872.1, CCDS46872.2, CCDS54610.1, CCDS54611.1	3p12.3	2013-02-11	2001-11-28		ENSG00000169855	ENSG00000169855		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	10249	protein-coding gene	gene with protein product		602430	"roundabout (axon guidance receptor, Drosophila) homolog 1"			9458045, 9608531	Standard	NM_002941		Approved	DUTT1, FLJ21882, SAX3	uc003dqe.2	Q9Y6N7	OTTHUMG00000158843	ENST00000464233.1:c.20C>A	3.37:g.79639042G>T	ENSP00000420321:p.Pro7His						p.P7H	NM_002941.3	NP_002932.1	Q9Y6N7	ROBO1_HUMAN		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)	2	133	-		Lung SC(41;0.0257)|Lung NSC(201;0.0439)	7					B2RXI1|D3DU36|E9PD49|Q1RMC7|Q7Z300|Q9BUS7	Missense_Mutation	SNP	ENST00000464233.1	37	c.20C>A	CCDS54611.1	.	.	.	.	.	.	.	.	.	.	G	7.884	0.730769	0.15507	.	.	ENSG00000169855	ENST00000464233;ENST00000398414	T	0.59772	0.24	5.24	5.24	0.73138	.	0.203965	0.24647	N	0.036748	T	0.40040	0.1101	N	0.08118	0	0.80722	D	1	P	0.44309	0.832	B	0.41466	0.358	T	0.33548	-0.9864	9	.	.	.	.	16.6141	0.84902	0.0:0.0:1.0:0.0	.	7	Q9Y6N7	ROBO1_HUMAN	H	7	ENSP00000420321:P7H	.	P	-	2	0	ROBO1	79721732	1.000000	0.71417	1.000000	0.80357	0.176000	0.22953	4.740000	0.62087	2.449000	0.82847	0.460000	0.39030	CCT		0.383	ROBO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352610.1	NM_002941		6	152	1	0	8.12818e-05	1	8.77844e-05	6	152					T	79639042	G	T	79639042	3	4	359	1	0	0	0	0	1	0	0	0	13513	1000	35	5	5127	5	ROBO1	3	79639042	Missense_Mutation	SNP	G	TCGA-QU-A6IL-01A-11D-A31L-08	27334247	79639042	118383388	10	17936											
FAM55C	91775	broad.mit.edu	37	chr3	101535763	101535763	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaccctgacaacattacagaGtgcttacaaagaaaagtggt	16	8	9	8	0	0	3	0	1	0	2	0	4	0	3	1	1	4	1	1	1	6	2			TCGA-QU-A6IL-01A-11D-A31L-08	TCGA-QU-A6IL-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d5ce82e-de92-420b-abab-003d7bee208e	c2fe33a1-6c76-42e6-9708-e7ea911d2f85	g.chr3:101535763G>A	ENST00000491511.2	+	7	2003	c.1047G>A	c.(1045-1047)gaG>gaA	p.E349E	NXPE3_ENST00000422132.1_Silent_p.E349E|NXPE3_ENST00000273347.5_Silent_p.E349E|NXPE3_ENST00000477909.1_Silent_p.E349E	NM_001134456.1	NP_001127928.1	Q969Y0	NXPE3_HUMAN	neurexophilin and PC-esterase domain family, member 3	349						extracellular region (GO:0005576)											ACATTACAGAGTGCTTACAAA	0.398																																						ENST00000422132.1																			0											c.(1045-1047)gaG>gaA		neurexophilin and PC-esterase domain family, member 3							192	186	188					3																	101535763		2203	4300	6503	SO:0001819	synonymous_variant	91775							g.chr3:101535763G>A	AK054664	CCDS2945.1	3q12.3	2012-06-14	2012-06-11	2012-06-11	ENSG00000144815	ENSG00000144815			28238	protein-coding gene	gene with protein product			"family with sequence similarity 55, member C"	FAM55C		12975309	Standard	NM_001134456		Approved	MGC15606	uc003dvn.3	Q969Y0	OTTHUMG00000159179	ENST00000491511.2:c.1047G>A	3.37:g.101535763G>A						NXPE3_ENST00000491511.1_Silent_p.E349E|NXPE3_ENST00000477909.1_Silent_p.E349E|NXPE3_ENST00000273347.5_Silent_p.E349E	p.E349E							4	1244	+								A8K0X4|D3DN53|Q7Z2S8	Silent	SNP	ENST00000491511.2	37	c.1047G>A	CCDS2945.1																																																																																				0.398	NXPE3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353711.2	NM_145037		14	213	0	0	0	1	0	14	213					A	101535763	G	A	101535763	2	1	359	1	0	0	0	0	0	0	0	1	5586	1020	36	3		3	FAM55C	3	101535763	Silent	SNP	G	TCGA-QU-A6IL-01A-11D-A31L-08	21896721	101535763	96486667	11	17937											
HPS3	84343	broad.mit.edu	37	chr3	148885755	148885755	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gagagaagtatcaactctacCtgtcatcattaaaaggtaaa	17	10	7	7	0	4	1	3	0	1	1	4	3	4	1	1	1	2	2	1	1	8	4			TCGA-QU-A6IL-01A-11D-A31L-08	TCGA-QU-A6IL-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d5ce82e-de92-420b-abab-003d7bee208e	c2fe33a1-6c76-42e6-9708-e7ea911d2f85	g.chr3:148885755C>A	ENST00000296051.2	+	16	3012	c.2872C>A	c.(2872-2874)Ctg>Atg	p.L958M	HPS3_ENST00000460120.1_Missense_Mutation_p.L793M	NM_032383.3	NP_115759.2	Q969F9	HPS3_HUMAN	Hermansky-Pudlak syndrome 3	958					organelle organization (GO:0006996)|pigmentation (GO:0043473)	BLOC-2 complex (GO:0031084)				breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	34			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)			TCAACTCTACCTGTCATCATT	0.299									Hermansky-Pudlak syndrome																													ENST00000296051.2																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	34						c.(2872-2874)Ctg>Atg		Hermansky-Pudlak syndrome 3							90	94	93					3																	148885755		2203	4299	6502	SO:0001583	missense	84343	Hermansky-Pudlak syndrome	Familial Cancer Database	HPS, HPS1-8		cytoplasm		g.chr3:148885755C>A	AY033141	CCDS3140.1	3q24	2014-06-18			ENSG00000163755	ENSG00000163755			15597	protein-coding gene	gene with protein product		606118				11455388	Standard	NM_032383		Approved	SUTAL	uc003ewu.1	Q969F9	OTTHUMG00000159548	ENST00000296051.2:c.2872C>A	3.37:g.148885755C>A	ENSP00000296051:p.Leu958Met					HPS3_ENST00000460120.1_Missense_Mutation_p.L793M	p.L958M	NM_032383.3	NP_115759.2	Q969F9	HPS3_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)		16	3012	+			958					A8K6G6|Q8WTV6|Q96AP1|Q96MR3|Q9H608	Missense_Mutation	SNP	ENST00000296051.2	37	c.2872C>A	CCDS3140.1	.	.	.	.	.	.	.	.	.	.	C	10.13	1.266215	0.23136	.	.	ENSG00000163755	ENST00000296051;ENST00000460120	T;T	0.69806	-0.43;-0.43	5.65	0.297	0.15762	.	0.198591	0.42548	D	0.000695	T	0.70124	0.3188	L	0.59436	1.845	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.77004	0.989;0.979	T	0.65886	-0.6059	10	0.62326	D	0.03	-6.7179	1.1584	0.01800	0.2098:0.3054:0.1042:0.3806	.	793;958	G5E9V4;Q969F9	.;HPS3_HUMAN	M	958;793	ENSP00000296051:L958M;ENSP00000418230:L793M	ENSP00000296051:L958M	L	+	1	2	HPS3	150368445	0.011000	0.17503	0.219000	0.23793	0.186000	0.23388	-0.609000	0.05635	-0.249000	0.09569	-0.252000	0.11476	CTG		0.299	HPS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356151.1	NM_032383		21	30	1	0	3.8784e-16	1	4.55291e-16	21	30					A	148885755	C	A	148885755	3	1	359	1	0	0	0	0	1	0	0	0	7340	680	24	5	2934	5	HPS3	3	148885755	Missense_Mutation	SNP	C	TCGA-QU-A6IL-01A-11D-A31L-08	47349992	148885755	49136675	12	17938											
SPATA18	132671	broad.mit.edu	37	chr4	52960700	52960700	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttatattttccagatgtctcGaagtcggagtccttctccaa	9	15	7	10	2	2	1	0	0	2	1	7	3	4	2	3	1	0	0	3	1	4	5	rs143324533		TCGA-QU-A6IL-01A-11D-A31L-08	TCGA-QU-A6IL-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d5ce82e-de92-420b-abab-003d7bee208e	c2fe33a1-6c76-42e6-9708-e7ea911d2f85	g.chr4:52960700G>A	ENST00000295213.4	+	12	1945	c.1571G>A	c.(1570-1572)cGa>cAa	p.R524Q	SPATA18_ENST00000419395.2_Missense_Mutation_p.R492Q	NM_145263.2	NP_660306.1	Q8TC71	MIEAP_HUMAN	spermatogenesis associated 18	524					cellular response to DNA damage stimulus (GO:0006974)|mitochondrial protein catabolic process (GO:0035694)|mitochondrion degradation by induced vacuole formation (GO:0035695)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrial outer membrane (GO:0005741)				breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41			GBM - Glioblastoma multiforme(4;1.77e-13)|LUSC - Lung squamous cell carcinoma(32;0.00204)			CAGATGTCTCGAAGTCGGAGT	0.343																																						ENST00000295213.4																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						c.(1570-1572)cGa>cAa		spermatogenesis associated 18		G	GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	109	114	112		1571	4.8	1	4	dbSNP_134	112	0,8600		0,0,4300	no	missense	SPATA18	NM_145263.2	43	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	possibly-damaging	524/539	52960700	1,13005	2203	4300	6503	SO:0001583	missense	132671				mitochondrial protein catabolic process|mitochondrion degradation by induced vacuole formation|response to DNA damage stimulus	mitochondrial outer membrane	protein binding	g.chr4:52960700G>A	BC025396	CCDS3489.1, CCDS75124.1	4q11	2012-01-23	2012-01-23		ENSG00000163071	ENSG00000163071			29579	protein-coding gene	gene with protein product		612814	"spermatogenesis associated 18 homolog (rat)"			21300779	Standard	XR_245253		Approved	FLJ32906	uc003gzl.3	Q8TC71	OTTHUMG00000128698	ENST00000295213.4:c.1571G>A	4.37:g.52960700G>A	ENSP00000295213:p.Arg524Gln					SPATA18_ENST00000419395.2_Missense_Mutation_p.R492Q	p.R524Q	NM_145263.2	NP_660306.1	Q8TC71	MIEAP_HUMAN	GBM - Glioblastoma multiforme(4;1.77e-13)|LUSC - Lung squamous cell carcinoma(32;0.00204)		12	1945	+			524					B4E2R0|E5RLK1|Q8IY48|Q8N7D7	Missense_Mutation	SNP	ENST00000295213.4	37	c.1571G>A	CCDS3489.1	.	.	.	.	.	.	.	.	.	.	G	25.8	4.671138	0.88348	2.27E-4	0.0	ENSG00000163071	ENST00000295213;ENST00000419395	T;T	0.38240	1.15;1.18	4.84	4.84	0.62591	.	0.623860	0.15720	N	0.247926	T	0.54838	0.1883	L	0.55481	1.735	0.41280	D	0.986903	D;D	0.89917	1.0;1.0	D;D	0.81914	0.995;0.995	T	0.53844	-0.8381	10	0.66056	D	0.02	-6.2923	13.6443	0.62272	0.0:0.0:1.0:0.0	.	492;524	Q8TC71-2;Q8TC71	.;MIEAP_HUMAN	Q	524;492	ENSP00000295213:R524Q;ENSP00000415309:R492Q	ENSP00000295213:R524Q	R	+	2	0	SPATA18	52655457	1.000000	0.71417	1.000000	0.80357	0.933000	0.57130	4.694000	0.61760	2.677000	0.91161	0.655000	0.94253	CGA		0.343	SPATA18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250597.2	NM_145263		5	53	0	0	0	1	0	5	53					A	52960700	G	A	52960700	3	1	359	1	0	0	0	0	1	0	0	0	15002	1058	37	2	1617	2	SPATA18	4	52960700	Missense_Mutation	SNP	G	TCGA-QU-A6IL-01A-11D-A31L-08		52960700	138193576	13	17939											
C4orf51	646603	broad.mit.edu	37	chr4	146650335	146650335	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ttataggcacatcaaatttgGgattttggtgattgttttcc	9	18	9	5	0	1	1	1	1	0	0	2	2	2	2	1	3	0	2	1	3	3	8			TCGA-QU-A6IL-01A-11D-A31L-08	TCGA-QU-A6IL-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d5ce82e-de92-420b-abab-003d7bee208e	c2fe33a1-6c76-42e6-9708-e7ea911d2f85	g.chr4:146650335G>T	ENST00000438731.1	+	4	381	c.381G>T	c.(379-381)tgG>tgT	p.W127C		NM_001080531.1	NP_001074000.1	C9J302	CD051_HUMAN	chromosome 4 open reading frame 51	127										haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(4)	6						ATCAAATTTGGGATTTTGGTG	0.313																																						ENST00000438731.1																			0				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(4)	6						c.(379-381)tgG>tgT		chromosome 4 open reading frame 51							101	94	96					4																	146650335		1825	4081	5906	SO:0001583	missense	646603							g.chr4:146650335G>T		CCDS47140.1	4q31.21	2009-09-09			ENSG00000237136	ENSG00000237136			37264	protein-coding gene	gene with protein product							Standard	NM_001080531		Approved		uc003ikk.3	C9J302	OTTHUMG00000161367	ENST00000438731.1:c.381G>T	4.37:g.146650335G>T	ENSP00000391404:p.Trp127Cys						p.W127C	NM_001080531.1	NP_001074000.1	C9J302	CD051_HUMAN			4	381	+			127						Missense_Mutation	SNP	ENST00000438731.1	37	c.381G>T	CCDS47140.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	9.770|9.770	1.172441|1.172441	0.21704|0.21704	.|.	.|.	ENSG00000237136|ENSG00000237136	ENST00000511965|ENST00000438731	.|.	.|.	.|.	3.48|3.48	2.62|2.62	0.31277|0.31277	.|.	.|.	.|.	.|.	.|.	T|T	0.48822|0.48822	0.1521|0.1521	N|N	0.24115|0.24115	0.695|0.695	0.38151|0.38151	D|D	0.938744|0.938744	.|D	.|0.61697	.|0.99	.|P	.|0.55824	.|0.785	T|T	0.54510|0.54510	-0.8283|-0.8283	5|8	.|0.72032	.|D	.|0.01	.|.	8.7445|8.7445	0.34578|0.34578	0.0:0.2569:0.7431:0.0|0.0:0.2569:0.7431:0.0	.|.	.|127	.|C9J302	.|CD051_HUMAN	V|C	87|127	.|.	.|ENSP00000391404:W127C	G|W	+|+	2|3	0|0	C4orf51|C4orf51	146869785|146869785	0.913000|0.913000	0.31002|0.31002	0.605000|0.605000	0.28930|0.28930	0.217000|0.217000	0.24651|0.24651	1.227000|1.227000	0.32576|0.32576	1.026000|1.026000	0.39733|0.39733	0.585000|0.585000	0.79938|0.79938	GGG|TGG		0.313	C4orf51-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001080531		5	7	1	0	5.9392e-07	1	6.54524e-07	5	7					T	146650335	G	T	146650335	3	4	359	1	0	0	0	0	1	0	0	0	2277	1241	43	5	395	5	C4orf51	4	146650335	Missense_Mutation	SNP	G	TCGA-QU-A6IL-01A-11D-A31L-08	93689635	146650335	44503941	14	17940											
DDX60	55601	broad.mit.edu	37	chr4	169173727	169173727	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttccaggttcttctctagaCacttcactagattatcatgt	9	17	5	10	0	4	2	2	0	2	2	6	2	5	2	1	1	0	1	1	1	3	7			TCGA-QU-A6IL-01A-11D-A31L-08	TCGA-QU-A6IL-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d5ce82e-de92-420b-abab-003d7bee208e	c2fe33a1-6c76-42e6-9708-e7ea911d2f85	g.chr4:169173727C>T	ENST00000393743.3	-	27	3929	c.3638G>A	c.(3637-3639)tGt>tAt	p.C1213Y	DDX60_ENST00000505393.1_5'UTR	NM_017631.5	NP_060101.3	Q8IY21	DDX60_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60	1213					defense response to virus (GO:0051607)|innate immune response (GO:0045087)|positive regulation of MDA-5 signaling pathway (GO:1900245)|positive regulation of RIG-I signaling pathway (GO:1900246)|response to virus (GO:0009615)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)	ATP binding (GO:0005524)|double-stranded DNA binding (GO:0003690)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|single-stranded RNA binding (GO:0003727)			breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|urinary_tract(4)	63		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.0485)		CTTCTCTAGACACTTCACTAG	0.388																																						ENST00000393743.3																			0				breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|urinary_tract(4)	63						c.(3637-3639)tGt>tAt		DEAD (Asp-Glu-Ala-Asp) box polypeptide 60							279	261	267					4																	169173727		2203	4300	6503	SO:0001583	missense	55601						ATP binding|ATP-dependent helicase activity|RNA binding	g.chr4:169173727C>T	AK001649	CCDS34097.1	4q32.3	2010-02-17			ENSG00000137628	ENSG00000137628			25942	protein-coding gene	gene with protein product		613974				12477932	Standard	NM_017631		Approved	FLJ20035	uc003irp.3	Q8IY21	OTTHUMG00000161350	ENST00000393743.3:c.3638G>A	4.37:g.169173727C>T	ENSP00000377344:p.Cys1213Tyr					DDX60_ENST00000505393.1_5'UTR	p.C1213Y	NM_017631.5	NP_060101.3	Q8IY21	DDX60_HUMAN		GBM - Glioblastoma multiforme(119;0.0485)	27	3929	-		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)	1213					Q6PK35|Q9NVE3	Missense_Mutation	SNP	ENST00000393743.3	37	c.3638G>A	CCDS34097.1	.	.	.	.	.	.	.	.	.	.	C	0.003	-2.514132	0.00151	.	.	ENSG00000137628	ENST00000393743	T	0.41065	1.01	5.18	-2.56	0.06268	.	1.478590	0.04143	N	0.319989	T	0.15262	0.0368	N	0.08118	0	0.09310	N	1	B	0.19073	0.033	B	0.08055	0.003	T	0.14559	-1.0468	10	0.02654	T	1	.	0.1206	0.00064	0.259:0.2442:0.1845:0.3123	.	1213	Q8IY21	DDX60_HUMAN	Y	1213	ENSP00000377344:C1213Y	ENSP00000377344:C1213Y	C	-	2	0	DDX60	169410302	0.000000	0.05858	0.002000	0.10522	0.014000	0.08584	-1.297000	0.02759	-0.321000	0.08627	0.563000	0.77884	TGT		0.388	DDX60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364622.1	NM_017631		65	112	0	0	0	1	0	65	112					T	169173727	C	T	169173727	3	4	359	1	0	0	0	0	1	0	0	0	4378	478	17	3	1548	3	DDX60	4	169173727	Missense_Mutation	SNP	C	TCGA-QU-A6IL-01A-11D-A31L-08	22523392	169173727	21980549	15	17941											
PCDHA10	56139	broad.mit.edu	37	chr5	140237684	140237684	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ctcgtcgcgggcttcagtggGcgtggcgcccgaggtggccc	2	7	18	14	6	1	0	1	0	0	0	3	1	1	0	2	5	0	1	2	5	0	1			TCGA-QU-A6IL-01A-11D-A31L-08	TCGA-QU-A6IL-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d5ce82e-de92-420b-abab-003d7bee208e	c2fe33a1-6c76-42e6-9708-e7ea911d2f85	g.chr5:140237684G>A	ENST00000307360.5	+	1	2051	c.2051G>A	c.(2050-2052)gGc>gAc	p.G684D	PCDHA6_ENST00000527624.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron	NM_018901.2	NP_061724.1	Q9Y5I2	PCDAA_HUMAN	protocadherin alpha 10	684	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	79			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCTTCAGTGGGCGTGGCGCCC	0.657																																						ENST00000307360.5																			0				NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	79						c.(2050-2052)gGc>gAc									21	21	21					5																	140237684		1322	2289	3611	SO:0001583	missense	0							g.chr5:140237684G>A	AF152475	CCDS34255.1, CCDS54921.1, CCDS75325.1	5q31	2010-11-26			ENSG00000250120	ENSG00000250120		"Cadherins / Protocadherins : Clustered"	8664	other	complex locus constituent	"KIAA0345-like 4", "ortholog to mouse CNR8"	606316		CNRS8		10380929	Standard	NM_018901		Approved	CNR8, CRNR8, CNRN8, PCDH-ALPHA10		Q9Y5I2	OTTHUMG00000163372	ENST00000307360.5:c.2051G>A	5.37:g.140237684G>A	ENSP00000304234:p.Gly684Asp					PCDHA7_ENST00000525929.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000394633.3_Intron	p.G684D	NM_018901.2|NM_031859.1	NP_061724.1|NP_114065.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2051	+								A1L493|O75280|Q9NRU2	Missense_Mutation	SNP	ENST00000307360.5	37	c.2051G>A	CCDS54921.1	.	.	.	.	.	.	.	.	.	.	G	8.199	0.797637	0.16327	.	.	ENSG00000250120	ENST00000307360	T	0.53206	0.63	3.6	-1.12	0.09808	Cadherin (1);	.	.	.	.	T	0.19248	0.0462	N	0.08118	0	0.09310	N	1	B;B	0.12630	0.002;0.006	B;B	0.17979	0.008;0.02	T	0.23013	-1.0200	9	0.12103	T	0.63	.	1.6478	0.02765	0.1621:0.227:0.3688:0.2421	.	684;684	Q9Y5I2-3;Q9Y5I2	.;PCDAA_HUMAN	D	684	ENSP00000304234:G684D	ENSP00000304234:G684D	G	+	2	0	PCDHA10	140217868	0.001000	0.12720	0.001000	0.08648	0.003000	0.03518	0.155000	0.16362	-0.036000	0.13669	0.491000	0.48974	GGC		0.657	PCDHA10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372895.2	NM_018901		23	48	0	0	0	1	0	23	48					A	140237684	G	A	140237684	3	1	359	1	0	0	0	0	1	0	0	0	11520	1203	42	3	2053	3	PCDHA10	5	140237684	Missense_Mutation	SNP	G	TCGA-QU-A6IL-01A-11D-A31L-08		140237684	40677576	16	17942											
EGFR	1956	broad.mit.edu	37	chr7	55229298	55229298	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtcagccgaggcagggaatgCgtggacaagtgcaaccttct	10	7	14	10	2	2	0	1	0	1	0	2	3	2	2	2	3	4	2	2	3	3	1			TCGA-QU-A6IL-01A-11D-A31L-08	TCGA-QU-A6IL-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d5ce82e-de92-420b-abab-003d7bee208e	c2fe33a1-6c76-42e6-9708-e7ea911d2f85	g.chr7:55229298C>T	ENST00000275493.2	+	13	1782	c.1605C>T	c.(1603-1605)tgC>tgT	p.C535C	EGFR_ENST00000342916.3_Silent_p.C535C|EGFR_ENST00000442591.1_Silent_p.C535C|EGFR_ENST00000454757.2_Silent_p.C482C|EGFR_ENST00000455089.1_Silent_p.C490C|EGFR_ENST00000344576.2_Silent_p.C535C	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	535					activation of phospholipase A2 activity by calcium-mediated signaling (GO:0043006)|activation of phospholipase C activity (GO:0007202)|alkanesulfonate metabolic process (GO:0019694)|astrocyte activation (GO:0048143)|axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular response to amino acid stimulus (GO:0071230)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to drug (GO:0035690)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to estradiol stimulus (GO:0071392)|cellular response to mechanical stimulus (GO:0071260)|cerebral cortex cell migration (GO:0021795)|circadian rhythm (GO:0007623)|digestive tract morphogenesis (GO:0048546)|diterpenoid metabolic process (GO:0016101)|embryonic placenta development (GO:0001892)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hair follicle development (GO:0001942)|hydrogen peroxide metabolic process (GO:0042743)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|liver development (GO:0001889)|lung development (GO:0030324)|magnesium ion homeostasis (GO:0010960)|MAPK cascade (GO:0000165)|morphogenesis of an epithelial fold (GO:0060571)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein catabolic process (GO:0042177)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|polysaccharide metabolic process (GO:0005976)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of DNA repair (GO:0045739)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasoconstriction (GO:0045907)|positive regulation of vasodilation (GO:0045909)|protein autophosphorylation (GO:0046777)|protein insertion into membrane (GO:0051205)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to calcium ion (GO:0051592)|response to cobalamin (GO:0033590)|response to hydroxyisoflavone (GO:0033594)|response to osmotic stress (GO:0006970)|response to oxidative stress (GO:0006979)|response to stress (GO:0006950)|response to UV-A (GO:0070141)|salivary gland morphogenesis (GO:0007435)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|tongue development (GO:0043586)|translation (GO:0006412)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|Shc-EGFR complex (GO:0070435)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|epidermal growth factor-activated receptor activity (GO:0005006)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)|ubiquitin protein ligase binding (GO:0031625)	p.C535C(2)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Afatinib(DB08916)|Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)|Vandetanib(DB05294)	GCAGGGAATGCGTGGACAAGT	0.567		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																												ENST00000275493.2		8	yes	Dom	yes	Familial lung cancer	7	7p12.3-p12.1	1956	"A, O, Mis"	"epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)"			"E, O"		NSCLC	"glioma, NSCLC"		2	Substitution - coding silent(2)	p.C535C(2)	haematopoietic_and_lymphoid_tissue(2)	NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110						c.(1603-1605)tgC>tgT		epidermal growth factor receptor	Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)						151	148	149					7																	55229298		2203	4300	6503	SO:0001819	synonymous_variant	1956	Lung Cancer, Familial Clustering of	Familial Cancer Database	incl. Hereditary Lung cancer, Hereditary Non-Small Cell Lung cancer	activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	g.chr7:55229298C>T		CCDS5514.1, CCDS5515.1, CCDS5516.1, CCDS47587.1	7p12	2014-09-17	2010-06-25		ENSG00000146648	ENSG00000146648			3236	protein-coding gene	gene with protein product	"erythroblastic leukemia viral (v-erb-b) oncogene homolog (avian)"	131550	"epidermal growth factor receptor (avian erythroblastic leukemia viral (v-erb-b) oncogene homolog)"	ERBB		1505215	Standard	NM_201282		Approved	ERBB1	uc003tqk.3	P00533	OTTHUMG00000023661	ENST00000275493.2:c.1605C>T	7.37:g.55229298C>T		TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)				EGFR_ENST00000455089.1_Silent_p.C490C|EGFR_ENST00000442591.1_Silent_p.C535C|EGFR_ENST00000454757.2_Silent_p.C482C|EGFR_ENST00000342916.3_Silent_p.C535C|EGFR_ENST00000344576.2_Silent_p.C535C	p.C535C	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		13	1782	+	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		535					O00688|O00732|P06268|Q14225|Q68GS5|Q92795|Q9BZS2|Q9GZX1|Q9H2C9|Q9H3C9|Q9UMD7|Q9UMD8|Q9UMG5	Silent	SNP	ENST00000275493.2	37	c.1605C>T	CCDS5514.1																																																																																				0.567	EGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251456.2	NM_005228		4	222	0	0	0	1	0	4	222					T	55229298	C	T	55229298	2	4	359	1	0	0	0	0	0	0	0	1	4967	776	27	1		1	EGFR	7	55229298	Silent	SNP	C	TCGA-QU-A6IL-01A-11D-A31L-08		55229298	103909365	17	17943											
CADPS2	93664	broad.mit.edu	37	chr7	122303546	122303546	+	Frame_Shift_Del	DEL	A	A	-																															cgtttttctatgtttttcttAaatacttctctgaagtcatt																										TCGA-QU-A6IL-01A-11D-A31L-08	TCGA-QU-A6IL-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d5ce82e-de92-420b-abab-003d7bee208e	c2fe33a1-6c76-42e6-9708-e7ea911d2f85	g.chr7:122303546delA	ENST00000449022.2	-	3	550	c.531delT	c.(529-531)tttfs	p.F177fs	CADPS2_ENST00000334010.7_Frame_Shift_Del_p.F177fs|CADPS2_ENST00000412584.2_Frame_Shift_Del_p.F177fs|CADPS2_ENST00000313070.7_Frame_Shift_Del_p.F177fs	NM_017954.10	NP_060424.9	Q86UW7	CAPS2_HUMAN	Ca++-dependent secretion activator 2	177					cellular response to starvation (GO:0009267)|positive regulation of exocytosis (GO:0045921)|protein transport (GO:0015031)|synaptic vesicle priming (GO:0016082)	cell junction (GO:0030054)|cytoplasmic membrane-bounded vesicle (GO:0016023)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	lipid binding (GO:0008289)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(2)	43						TGTTTTTCTTAAATACTTCTC	0.398																																						ENST00000334010.7																			0				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(2)	43						c.(529-531)ttfs		Ca++-dependent secretion activator 2							65	58	60					7																	122303546		1839	4113	5952	SO:0001589	frameshift_variant	93664				exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|synapse	lipid binding|metal ion binding	g.chr7:122303546delA		CCDS47691.1, CCDS55158.1	7q31.32	2013-01-10	2008-08-28		ENSG00000081803	ENSG00000081803		"Pleckstrin homology (PH) domain containing"	16018	protein-coding gene	gene with protein product		609978	"Ca++-dependent activator protein for secretion 2"				Standard	NM_017954		Approved		uc010lkq.3	Q86UW7	OTTHUMG00000157093	ENST00000449022.2:c.531delT	7.37:g.122303546delA	ENSP00000398481:p.Phe177fs					CADPS2_ENST00000313070.7_Frame_Shift_Del_p.F177fs|CADPS2_ENST00000412584.2_Frame_Shift_Del_p.F177fs|CADPS2_ENST00000449022.2_Frame_Shift_Del_p.F177fs	p.F177fs	NM_001167940.1	NP_001161412.1	Q86UW7	CAPS2_HUMAN			3	952	-			177					A4D0X3|B7ZM56|Q658Q2|Q7Z5T7|Q8IZW9|Q8N7M4|Q9H6P4|Q9HCI1|Q9NWK8	Frame_Shift_Del	DEL	ENST00000449022.2	37	c.531delT	CCDS55158.1																																																																																				0.398	CADPS2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000347414.2	NM_017954		14	6						14	6	---	---	---	---	-	122303546	A	-	122303546	7	5	359	1	0	1	0	1	0	0	0	0	2571	359	13	0	3515	0	CADPS2	7	122303546	Frame_Shift_Del	DEL	A	TCGA-QU-A6IL-01A-11D-A31L-08	67074248	122303546	36835117	18	17944											
ARHGEF10	9639	broad.mit.edu	37	chr8	1900969	1900969	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tggccctgccggtcccacgtCtgcaagggattcccaaagtg	7	8	12	14	2	1	0	0	0	1	0	3	1	3	1	4	3	2	1	4	3	2	1			TCGA-QU-A6IL-01A-11D-A31L-08	TCGA-QU-A6IL-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d5ce82e-de92-420b-abab-003d7bee208e	c2fe33a1-6c76-42e6-9708-e7ea911d2f85	g.chr8:1900969C>T	ENST00000398564.1	+	28	3571	c.3571C>T	c.(3571-3573)Ctg>Ttg	p.L1191L	ARHGEF10_ENST00000349830.3_Silent_p.L1166L|ARHGEF10_ENST00000262112.6_Silent_p.L1162L|ARHGEF10_ENST00000520359.1_Silent_p.L1128L|ARHGEF10_ENST00000521927.1_3'UTR|ARHGEF10_ENST00000518288.1_Silent_p.L1190L			O15013	ARHGA_HUMAN	Rho guanine nucleotide exchange factor (GEF) 10	1191					centrosome duplication (GO:0051298)|myelination in peripheral nervous system (GO:0022011)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of stress fiber assembly (GO:0051496)|spindle assembly involved in mitosis (GO:0090307)	centrosome (GO:0005813)|cytosol (GO:0005829)	kinesin binding (GO:0019894)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			endometrium(3)|large_intestine(11)|lung(11)|prostate(3)|skin(3)|stomach(3)|urinary_tract(1)	35		Colorectal(14;3.46e-05)|Renal(68;0.000518)|Ovarian(12;0.00409)|Myeloproliferative disorder(644;0.0255)|Hepatocellular(245;0.0834)		COAD - Colon adenocarcinoma(149;1.62e-05)|BRCA - Breast invasive adenocarcinoma(11;1.68e-05)|KIRC - Kidney renal clear cell carcinoma(542;0.00361)|READ - Rectum adenocarcinoma(644;0.0718)		GGTCCCACGTCTGCAAGGGAT	0.622																																						ENST00000518288.1																			0				endometrium(3)|large_intestine(11)|lung(11)|prostate(3)|skin(3)|stomach(3)|urinary_tract(1)	35						c.(3568-3570)Ctg>Ttg		Rho guanine nucleotide exchange factor (GEF) 10							56	56	56					8																	1900969		2203	4300	6503	SO:0001819	synonymous_variant	9639				centrosome duplication|myelination in peripheral nervous system|positive regulation of GTP catabolic process|positive regulation of stress fiber assembly|regulation of Rho protein signal transduction|spindle assembly involved in mitosis	centrosome|cytosol|soluble fraction	kinesin binding|Rho guanyl-nucleotide exchange factor activity	g.chr8:1900969C>T	AF009205	CCDS34794.1	8p23	2014-09-17			ENSG00000104728	ENSG00000104728		"Rho guanine nucleotide exchange factors"	14103	protein-coding gene	gene with protein product		608136				9205841, 16896804	Standard	XM_005266039		Approved	KIAA0294, Gef10	uc003wpr.3	O15013	OTTHUMG00000163626	ENST00000398564.1:c.3571C>T	8.37:g.1900969C>T						ARHGEF10_ENST00000521927.1_3'UTR|ARHGEF10_ENST00000520359.1_Silent_p.L1128L|ARHGEF10_ENST00000262112.6_Silent_p.L1162L|ARHGEF10_ENST00000398564.1_Silent_p.L1191L|ARHGEF10_ENST00000349830.3_Silent_p.L1166L	p.L1190L			O15013	ARHGA_HUMAN		COAD - Colon adenocarcinoma(149;1.62e-05)|BRCA - Breast invasive adenocarcinoma(11;1.68e-05)|KIRC - Kidney renal clear cell carcinoma(542;0.00361)|READ - Rectum adenocarcinoma(644;0.0718)	29	3731	+		Colorectal(14;3.46e-05)|Renal(68;0.000518)|Ovarian(12;0.00409)|Myeloproliferative disorder(644;0.0255)|Hepatocellular(245;0.0834)	1191					O14665|Q2KHR8|Q68D55|Q8IWD9|Q8IY77	Silent	SNP	ENST00000398564.1	37	c.3568C>T																																																																																					0.622	ARHGEF10-203	KNOWN	basic	protein_coding	protein_coding				39	13	0	0	0	1	0	39	13					T	1900969	C	T	1900969	2	4	359	1	0	0	0	0	0	0	0	1	894	912	32	3		3	ARHGEF10	8	1900969	Silent	SNP	C	TCGA-QU-A6IL-01A-11D-A31L-08		1900969	144463053	19	17945											
VPS13B	157680	broad.mit.edu	37	chr8	100866042	100866042	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttggaagaatacaaggaaaaAtgttttatcaaactttgcat	17	13	7	4	0	1	1	1	0	0	1	1	3	1	3	0	2	3	2	0	2	8	5			TCGA-QU-A6IL-01A-11D-A31L-08	TCGA-QU-A6IL-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d5ce82e-de92-420b-abab-003d7bee208e	c2fe33a1-6c76-42e6-9708-e7ea911d2f85	g.chr8:100866042A>G	ENST00000358544.2	+	56	10611	c.10500A>G	c.(10498-10500)aaA>aaG	p.K3500K	VPS13B_ENST00000357162.2_Silent_p.K3475K|VPS13B_ENST00000395996.1_3'UTR	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	3500					protein transport (GO:0015031)					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			ACAAGGAAAAATGTTTTATCA	0.393																																					Colon(161;2205 2542 7338 31318)	ENST00000358544.2																			0				NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193						c.(10498-10500)aaA>aaG		vacuolar protein sorting 13 homolog B (yeast)							112	113	113					8																	100866042		2203	4300	6503	SO:0001819	synonymous_variant	157680				protein transport			g.chr8:100866042A>G	AJ608772	CCDS6280.1, CCDS6281.1, CCDS6283.1, CCDS47903.1	8q22-q23	2014-09-17	2006-12-19	2005-04-08	ENSG00000132549	ENSG00000132549			2183	protein-coding gene	gene with protein product		607817	"Cohen syndrome 1"	CHS1, COH1		7920642, 15498460	Standard	NM_181661		Approved		uc003yiv.4	Q7Z7G8	OTTHUMG00000140383	ENST00000358544.2:c.10500A>G	8.37:g.100866042A>G						VPS13B_ENST00000395996.1_3'UTR|VPS13B_ENST00000357162.2_Silent_p.K3475K	p.K3500K	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.00636)		56	10611	+	Breast(36;3.73e-07)		3500					C9JD30|Q709C6|Q709C7|Q7Z7G4|Q7Z7G5|Q7Z7G6|Q7Z7G7|Q8NB77|Q9NWV1|Q9Y4E7	Silent	SNP	ENST00000358544.2	37	c.10500A>G	CCDS6280.1																																																																																				0.393	VPS13B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000277138.1	NM_184042		5	273	0	0	0	1	0	5	273					G	100866042	A	G	100866042	2	3	359	1	0	0	0	0	0	0	0	1	17187	98	4	4		4	VPS13B	8	100866042	Silent	SNP	A	TCGA-QU-A6IL-01A-11D-A31L-08	98965073	100866042	45497980	20	17946											
ODF1	4956	broad.mit.edu	37	chr8	103564150	103564150	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tccaagcgatcacgctcttgCggcctgtgtgatctctaccc	6	11	9	15	3	3	1	1	1	2	0	5	2	4	1	3	1	3	1	3	1	2	2	rs150929068		TCGA-QU-A6IL-01A-11D-A31L-08	TCGA-QU-A6IL-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d5ce82e-de92-420b-abab-003d7bee208e	c2fe33a1-6c76-42e6-9708-e7ea911d2f85	g.chr8:103564150C>T	ENST00000285402.3	+	1	351	c.195C>T	c.(193-195)tgC>tgT	p.C65C		NM_024410.3	NP_077721.2	Q14990	ODFP1_HUMAN	outer dense fiber of sperm tails 1	65	2 X 5 AA repeats of [RC]-C-L-C-D.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	nucleus (GO:0005634)|outer dense fiber (GO:0001520)				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	20	all_cancers(14;2.76e-05)|all_epithelial(15;4.54e-08)|Lung NSC(17;4.08e-05)|all_lung(17;9.15e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000125)|STAD - Stomach adenocarcinoma(118;0.0826)			CACGCTCTTGCGGCCTGTGTG	0.507																																						ENST00000285402.3																			0				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	20						c.(193-195)tgC>tgT		outer dense fiber of sperm tails 1		C		0,4406		0,0,2203	319	257	278		195	-7.1	0.5	8	dbSNP_134	278	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	ODF1	NM_024410.3		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		65/251	103564150	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	4956				cell differentiation|multicellular organismal development|spermatogenesis	outer dense fiber	structural molecule activity	g.chr8:103564150C>T	M93131	CCDS6293.1	8q22	2011-09-05	2002-10-21		ENSG00000155087	ENSG00000155087		"Heat shock proteins / HSPB"	8113	protein-coding gene	gene with protein product	"cancer/testis antigen 133"	182878	"outer dense fibre of sperm tails 1"			8305202	Standard	NM_024410		Approved	ODFPG, ODF27, RT7, HSPB10, CT133	uc003ykt.2	Q14990	OTTHUMG00000164719	ENST00000285402.3:c.195C>T	8.37:g.103564150C>T							p.C65C	NM_024410.3	NP_077721.2	Q14990	ODFP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.000125)|STAD - Stomach adenocarcinoma(118;0.0826)		1	351	+	all_cancers(14;2.76e-05)|all_epithelial(15;4.54e-08)|Lung NSC(17;4.08e-05)|all_lung(17;9.15e-05)		65			2 X 5 AA repeats of [RC]-C-L-C-D.		Q3SX72	Silent	SNP	ENST00000285402.3	37	c.195C>T	CCDS6293.1																																																																																				0.507	ODF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379884.1			5	368	0	0	0	1	0	5	368					T	103564150	C	T	103564150	2	4	359	1	0	0	0	0	0	0	0	1	10826	776	27	1		1	ODF1	8	103564150	Silent	SNP	C	TCGA-QU-A6IL-01A-11D-A31L-08	2698108	103564150	42799872	21	17947											
MTAP	4507	broad.mit.edu	37	chr9	21854677	21854677	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggactccggtgccactcaaaGgggacaatggtcacaatcga	12	6	12	11	2	2	0	2	0	0	0	4	3	3	2	2	5	1	0	2	5	3	0			TCGA-QU-A6IL-01A-11D-A31L-08	TCGA-QU-A6IL-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d5ce82e-de92-420b-abab-003d7bee208e	c2fe33a1-6c76-42e6-9708-e7ea911d2f85	g.chr9:21854677G>A	ENST00000460874.2	+	6	774	c.549G>A	c.(547-549)aaG>aaA	p.K183K	MTAP_ENST00000380172.4_Silent_p.K166K|MTAP_ENST00000580900.1_Silent_p.K166K|RP11-145E5.5_ENST00000404796.2_Intron					methylthioadenosine phosphorylase									p.0(1)|p.0?(1)		central_nervous_system(1)|endometrium(2)|kidney(3)|lung(3)|pancreas(1)	10		all_cancers(5;0)|Hepatocellular(5;0.00162)|Colorectal(97;0.173)		GBM - Glioblastoma multiforme(3;0)|Lung(24;2.24e-57)|LUSC - Lung squamous cell carcinoma(38;1.97e-36)|STAD - Stomach adenocarcinoma(4;3.26e-05)|OV - Ovarian serous cystadenocarcinoma(39;0.00931)|COAD - Colon adenocarcinoma(8;0.15)		GCCACTCAAAGGGGACAATGG	0.473																																						ENST00000380172.4																			2	Whole gene deletion(2)	p.0(1)|p.0?(1)	lung(2)	central_nervous_system(1)|endometrium(2)|kidney(3)|lung(3)|pancreas(1)	10						c.(496-498)aaG>aaA		methylthioadenosine phosphorylase	Adenine(DB00173)						73	74	74					9																	21854677		2203	4300	6503	SO:0001819	synonymous_variant	4507				nucleoside metabolic process	cytoplasm	phosphorylase activity|S-methyl-5-thioadenosine phosphorylase activity	g.chr9:21854677G>A	AB062485	CCDS6509.1	9p21	2013-05-29			ENSG00000099810	ENSG00000099810	2.4.2.28		7413	protein-coding gene	gene with protein product	"S-methyl-5'-thioadenosine phosphorylase"	156540				11126361	Standard	NM_002451		Approved	MSAP, c86fus	uc003zph.3	Q13126	OTTHUMG00000019690	ENST00000460874.2:c.549G>A	9.37:g.21854677G>A						RP11-145E5.5_ENST00000404796.2_Intron|MTAP_ENST00000460874.2_Silent_p.K183K|MTAP_ENST00000580900.1_Silent_p.K166K	p.K166K	NM_002451.3	NP_002442.2	Q13126	MTAP_HUMAN		GBM - Glioblastoma multiforme(3;0)|Lung(24;2.24e-57)|LUSC - Lung squamous cell carcinoma(38;1.97e-36)|STAD - Stomach adenocarcinoma(4;3.26e-05)|OV - Ovarian serous cystadenocarcinoma(39;0.00931)|COAD - Colon adenocarcinoma(8;0.15)	6	704	+		all_cancers(5;0)|Hepatocellular(5;0.00162)|Colorectal(97;0.173)	166						Silent	SNP	ENST00000460874.2	37	c.498G>A																																																																																					0.473	MTAP-003	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000051929.2	NM_002451		40	62	0	0	0	1	0	40	62					A	21854677	G	A	21854677	2	1	359	1	0	0	0	0	0	0	0	1	9911	991	35	3		3	MTAP	9	21854677	Silent	SNP	G	TCGA-QU-A6IL-01A-11D-A31L-08		21854677	119358754	22	17948											
FRMPD1	22844	broad.mit.edu	37	chr9	37740871	37740871	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gataagctcactcccccaggCcccccgtcaggtgagccgtc	7	6	10	18	2	2	1	2	1	0	0	4	2	3	1	6	2	2	1	6	2	1	1			TCGA-QU-A6IL-01A-11D-A31L-08	TCGA-QU-A6IL-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d5ce82e-de92-420b-abab-003d7bee208e	c2fe33a1-6c76-42e6-9708-e7ea911d2f85	g.chr9:37740871C>G	ENST00000539465.1	+	15	2939	c.2346C>G	c.(2344-2346)ggC>ggG	p.G782G	FRMPD1_ENST00000541302.1_Silent_p.G651G|RP11-613M10.9_ENST00000540557.1_Intron|FRMPD1_ENST00000536622.1_Silent_p.G604G|FRMPD1_ENST00000377765.3_Silent_p.G782G			Q5SYB0	FRPD1_HUMAN	FERM and PDZ domain containing 1	782						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)				NS(3)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(34)|ovary(5)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	93				GBM - Glioblastoma multiforme(29;0.00655)		CTCCCCCAGGCCCCCCGTCAG	0.637																																						ENST00000539465.1																			0				NS(3)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(34)|ovary(5)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	93						c.(2344-2346)ggC>ggG		FERM and PDZ domain containing 1							33	34	34					9																	37740871		2203	4300	6503	SO:0001819	synonymous_variant	22844					cytoskeleton|cytosol|plasma membrane		g.chr9:37740871C>G	AB023184	CCDS6612.1	9p13.1	2008-02-05			ENSG00000070601	ENSG00000070601			29159	protein-coding gene	gene with protein product						10231032	Standard	NM_014907		Approved	KIAA0967, FRMD2	uc004aag.1	Q5SYB0	OTTHUMG00000019927	ENST00000539465.1:c.2346C>G	9.37:g.37740871C>G						FRMPD1_ENST00000536622.1_Silent_p.G604G|RP11-613M10.9_ENST00000540557.1_Intron|FRMPD1_ENST00000541302.1_Silent_p.G651G|FRMPD1_ENST00000377765.3_Silent_p.G782G	p.G782G			Q5SYB0	FRPD1_HUMAN		GBM - Glioblastoma multiforme(29;0.00655)	15	2939	+			782					B4DZC8|B7Z807|D3DRQ3|Q14C73|Q5HY96|Q9Y2H3	Silent	SNP	ENST00000539465.1	37	c.2346C>G	CCDS6612.1																																																																																				0.637	FRMPD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402969.1	NM_014907		19	39	0	0	0	1	0	19	39					G	37740871	C	G	37740871	2	3	359	1	0	0	0	0	0	0	0	1	6057	726	26	5		5	FRMPD1	9	37740871	Silent	SNP	C	TCGA-QU-A6IL-01A-11D-A31L-08	15886194	37740871	103472560	23	17949											
ACTL7B	10880	broad.mit.edu	37	chr9	111618107	111618107	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcatcttgagctgagtggccGcacctgtgtcccggaggctg	5	10	14	12	2	2	2	1	2	1	0	3	3	3	3	3	3	1	3	3	3	0	1			TCGA-QU-A6IL-01A-11D-A31L-08	TCGA-QU-A6IL-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d5ce82e-de92-420b-abab-003d7bee208e	c2fe33a1-6c76-42e6-9708-e7ea911d2f85	g.chr9:111618107G>A	ENST00000374667.3	-	1	1132	c.104C>T	c.(103-105)gCg>gTg	p.A35V		NM_006686.3	NP_006677.1	Q9Y614	ACL7B_HUMAN	actin-like 7B	35						actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	structural constituent of cytoskeleton (GO:0005200)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						CTGAGTGGCCGCACCTGTGTC	0.657																																						ENST00000374667.3																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						c.(103-105)gCg>gTg		actin-like 7B							82	82	82					9																	111618107		2203	4300	6503	SO:0001583	missense	10880					actin cytoskeleton|cytoplasm	structural constituent of cytoskeleton	g.chr9:111618107G>A	BC033789	CCDS6771.1	9q31	2009-05-15			ENSG00000148156	ENSG00000148156			162	protein-coding gene	gene with protein product		604304				10373328, 12907721	Standard	NM_006686		Approved	Tact1	uc004bdi.3	Q9Y614	OTTHUMG00000020462	ENST00000374667.3:c.104C>T	9.37:g.111618107G>A	ENSP00000363799:p.Ala35Val						p.A35V	NM_006686.3	NP_006677.1	Q9Y614	ACL7B_HUMAN			1	1132	-			35					B2R9Q2|Q5JSV1	Missense_Mutation	SNP	ENST00000374667.3	37	c.104C>T	CCDS6771.1	.	.	.	.	.	.	.	.	.	.	G	5.797	0.331408	0.10956	.	.	ENSG00000148156	ENST00000374667	D	0.95137	-3.62	3.9	3.9	0.45041	.	1.644800	0.04615	U	0.401037	D	0.88919	0.6568	N	0.08118	0	0.09310	N	1	B	0.20261	0.043	B	0.12156	0.007	T	0.78563	-0.2156	10	0.87932	D	0	.	11.2797	0.49186	0.0:0.0:1.0:0.0	.	35	Q9Y614	ACL7B_HUMAN	V	35	ENSP00000363799:A35V	ENSP00000363799:A35V	A	-	2	0	ACTL7B	110657928	0.198000	0.23374	0.004000	0.12327	0.008000	0.06430	1.365000	0.34182	2.026000	0.59711	0.655000	0.94253	GCG		0.657	ACTL7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053571.1	NM_006686		5	136	0	0	0	1	0	5	136					A	111618107	G	A	111618107	3	1	359	1	0	0	0	0	1	0	0	0	201	1087	38	1	1147	1	ACTL7B	9	111618107	Missense_Mutation	SNP	G	TCGA-QU-A6IL-01A-11D-A31L-08	73877236	111618107	29595324	24	17950											
CTNNAL1	8727	broad.mit.edu	37	chr9	111761374	111761374	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tttagcttcaatacaagcaaTatttatttcttctttcaaat	13	19	2	7	0	4	0	2	0	2	0	4	0	4	0	0	0	3	2	0	0	8	10			TCGA-QU-A6IL-01A-11D-A31L-08	TCGA-QU-A6IL-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d5ce82e-de92-420b-abab-003d7bee208e	c2fe33a1-6c76-42e6-9708-e7ea911d2f85	g.chr9:111761374T>C	ENST00000325551.4	-	2	390	c.304A>G	c.(304-306)Att>Gtt	p.I102V	CTNNAL1_ENST00000325580.6_Missense_Mutation_p.I102V|CTNNAL1_ENST00000374595.4_Missense_Mutation_p.I102V|CTNNAL1_ENST00000374593.4_Missense_Mutation_p.I102V	NM_003798.2	NP_003789.1	Q9UBT7	CTNL1_HUMAN	catenin (cadherin-associated protein), alpha-like 1	102					cell adhesion (GO:0007155)|Rho protein signal transduction (GO:0007266)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	structural molecule activity (GO:0005198)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(4)|urinary_tract(2)	25				STAD - Stomach adenocarcinoma(157;0.0768)		ATACAAGCAATATTTATTTCT	0.338																																						ENST00000374595.4																			0				cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(4)|urinary_tract(2)	25						c.(304-306)Att>Gtt		catenin (cadherin-associated protein), alpha-like 1							118	114	116					9																	111761374		2203	4300	6503	SO:0001583	missense	8727				cell adhesion|Rho protein signal transduction	actin cytoskeleton|cytosol|plasma membrane	cadherin binding|structural molecule activity	g.chr9:111761374T>C	AF030233	CCDS6775.1, CCDS69638.1	9q31.2	2008-07-21			ENSG00000119326	ENSG00000119326			2512	protein-coding gene	gene with protein product	"alpha-catulin", "alpha2-catulin"	604785				9806841	Standard	XM_005252291		Approved	CLLP, alpha-CATU	uc004bdo.1	Q9UBT7	OTTHUMG00000020466	ENST00000325551.4:c.304A>G	9.37:g.111761374T>C	ENSP00000320434:p.Ile102Val					CTNNAL1_ENST00000374593.4_Missense_Mutation_p.I102V|CTNNAL1_ENST00000325551.4_Missense_Mutation_p.I102V|CTNNAL1_ENST00000325580.6_Missense_Mutation_p.I102V	p.I102V			Q9UBT7	CTNL1_HUMAN		STAD - Stomach adenocarcinoma(157;0.0768)	2	383	-			102					B5BU47|O76084|Q53FQ2|Q5JTQ7|Q5JTQ8|Q9Y401	Missense_Mutation	SNP	ENST00000325551.4	37	c.304A>G	CCDS6775.1	.	.	.	.	.	.	.	.	.	.	T	11.73	1.727274	0.30593	.	.	ENSG00000119326	ENST00000374595;ENST00000325551;ENST00000325580;ENST00000374593	T;T;T;T	0.35973	1.28;1.28;1.28;1.28	6.07	4.94	0.65067	.	0.271016	0.42682	N	0.000680	T	0.28699	0.0711	L	0.51422	1.61	0.31469	N	0.668623	B;B;B	0.06786	0.001;0.0;0.001	B;B;B	0.08055	0.003;0.002;0.003	T	0.26710	-1.0095	10	0.30078	T	0.28	-8.8526	5.6857	0.17801	0.1496:0.0788:0.0:0.7716	.	102;102;102	B2RBI4;Q9UBT7-2;Q9UBT7	.;.;CTNL1_HUMAN	V	102	ENSP00000363723:I102V;ENSP00000320434:I102V;ENSP00000323351:I102V;ENSP00000363721:I102V	ENSP00000320434:I102V	I	-	1	0	CTNNAL1	110801195	0.944000	0.32072	0.998000	0.56505	0.998000	0.95712	1.468000	0.35332	1.126000	0.42016	0.533000	0.62120	ATT		0.338	CTNNAL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053577.1	NM_003798		42	53	0	0	0	1	0	42	53					C	111761374	T	C	111761374	3	2	359	1	0	0	0	0	1	0	0	0	4015	1406	49	4	1972	4	CTNNAL1	9	111761374	Missense_Mutation	SNP	T	TCGA-QU-A6IL-01A-11D-A31L-08	143267	111761374	29452057	25	17951											
PTGR1	22949	broad.mit.edu	37	chr9	114345847	114345848	+	Frame_Shift_Del	DEL	GT	GT	-																															cttcacaccacagatttcaaGtaggccaaagtaggcagtca																										TCGA-QU-A6IL-01A-11D-A31L-08	TCGA-QU-A6IL-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d5ce82e-de92-420b-abab-003d7bee208e	c2fe33a1-6c76-42e6-9708-e7ea911d2f85	g.chr9:114345847_114345848delGT	ENST00000407693.2	-	6	661_662	c.399_400delAC	c.(397-402)ctacttfs	p.LL133fs	PTGR1_ENST00000309195.5_Frame_Shift_Del_p.LL133fs|PTGR1_ENST00000538962.1_Frame_Shift_Del_p.LL133fs|PTGR1_ENST00000238248.3_Frame_Shift_Del_p.LL10fs	NM_001146108.1	NP_001139580.1	Q14914	PTGR1_HUMAN	prostaglandin reductase 1	133					arachidonic acid metabolic process (GO:0019369)|cyclooxygenase pathway (GO:0019371)|leukotriene metabolic process (GO:0006691)|lipoxin metabolic process (GO:2001300)|response to toxic substance (GO:0009636)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	13-prostaglandin reductase activity (GO:0036132)|15-oxoprostaglandin 13-oxidase activity (GO:0047522)|2-alkenal reductase [NAD(P)] activity (GO:0032440)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(5)|lung(3)|ovary(1)	11						CAGATTTCAAGTAGGCCAAAGT	0.421																																					Ovarian(200;132 2151 7551 19220 46064)	ENST00000407693.2																			0				endometrium(2)|large_intestine(5)|lung(3)|ovary(1)	11						c.(397-402)ctttfs		prostaglandin reductase 1																																				SO:0001589	frameshift_variant	22949				leukotriene metabolic process	cytoplasm	15-oxoprostaglandin 13-oxidase activity|2-alkenal reductase activity|alcohol dehydrogenase (NAD) activity|zinc ion binding	g.chr9:114345847_114345848delGT	D49387	CCDS6779.1, CCDS55331.1	9q32	2008-06-04	2008-06-02	2008-06-02	ENSG00000106853	ENSG00000106853	1.3.1.74, 1.3.1.48		18429	protein-coding gene	gene with protein product	"zinc binding alcohol dehydrogenase domain containing 3"	601274	"leukotriene B4 12-hydroxydehydrogenase"	LTB4DH		8576264, 17449869	Standard	NM_001146109		Approved	ZADH3	uc004bfh.2	Q14914	OTTHUMG00000020493	ENST00000407693.2:c.399_400delAC	9.37:g.114345847_114345848delGT	ENSP00000385763:p.Leu133fs					PTGR1_ENST00000309195.5_Frame_Shift_Del_p.LL133fs|PTGR1_ENST00000238248.3_Frame_Shift_Del_p.LL10fs|PTGR1_ENST00000538962.1_Frame_Shift_Del_p.LL133fs	p.LL133fs	NM_001146108.1	NP_001139580.1	Q14914	PTGR1_HUMAN			6	661_662	-			133					A8K0N2|B4DPK3|F5GY50|Q8IYQ0|Q9H1X6	Frame_Shift_Del	DEL	ENST00000407693.2	37	c.399_400delAC	CCDS6779.1																																																																																				0.421	PTGR1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053647.2			33	180						33	180	---	---	---	---	-	114345848	GT	-	114345847	7	5	359	1	0	1	0	1	0	0	0	0	12753	1029	36	0	640	0	PTGR1	9	114345847	Frame_Shift_Del	DEL	GT	TCGA-QU-A6IL-01A-11D-A31L-08	2584473	114345847	26867584	26	17952											
CACNA1B	774	broad.mit.edu	37	chr9	140809212	140809212	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tttgccatcattggcctggaGttctacatgggcaagttcca	8	13	10	10	0	2	0	1	0	1	0	3	1	3	1	3	3	2	3	3	3	2	5			TCGA-QU-A6IL-01A-11D-A31L-08	TCGA-QU-A6IL-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d5ce82e-de92-420b-abab-003d7bee208e	c2fe33a1-6c76-42e6-9708-e7ea911d2f85	g.chr9:140809212G>A	ENST00000371372.1	+	5	874	c.729G>A	c.(727-729)gaG>gaA	p.E243E	CACNA1B_ENST00000371355.4_Silent_p.E243E|CACNA1B_ENST00000371357.1_Silent_p.E243E|CACNA1B_ENST00000277549.5_5'UTR|CACNA1B_ENST00000371363.1_Silent_p.E243E|CACNA1B_ENST00000277551.2_Silent_p.E243E	NM_000718.3|NM_001243812.1	NP_000709.1|NP_001230741.1	Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	243					calcium ion import (GO:0070509)|locomotory behavior (GO:0007626)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|neurotransmitter secretion (GO:0007269)|regulation of blood pressure (GO:0008217)|regulation of calcium ion transport (GO:0051924)|regulation of heart contraction (GO:0008016)|response to pain (GO:0048265)|synaptic transmission (GO:0007268)|transport (GO:0006810)	dendrite (GO:0030425)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|protein C-terminus binding (GO:0008022)|voltage-gated calcium channel activity (GO:0005245)			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)|Levetiracetam(DB01202)|Spironolactone(DB00421)|Verapamil(DB00661)	TTGGCCTGGAGTTCTACATGG	0.557																																						ENST00000371372.1																			0				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80						c.(727-729)gaG>gaA		calcium channel, voltage-dependent, N type, alpha 1B subunit	Amlodipine(DB00381)|Gabapentin(DB00996)						106	104	105					9																	140809212		2129	4250	6379	SO:0001819	synonymous_variant	774				membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity	g.chr9:140809212G>A	AB209467	CCDS59522.1, CCDS59523.1	9q34	2013-01-10	2007-02-16		ENSG00000148408	ENSG00000148408		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels", "EF-hand domain containing"	1389	protein-coding gene	gene with protein product		601012		CACNL1A5		8825650, 16382099	Standard	NM_000718		Approved	Cav2.2, CACNN	uc004cog.3	Q00975	OTTHUMG00000021002	ENST00000371372.1:c.729G>A	9.37:g.140809212G>A						CACNA1B_ENST00000371355.4_Silent_p.E243E|CACNA1B_ENST00000371357.1_Silent_p.E243E|CACNA1B_ENST00000277549.5_5'UTR|CACNA1B_ENST00000371363.1_Silent_p.E243E|CACNA1B_ENST00000277551.2_Silent_p.E243E	p.E243E	NM_000718.3|NM_001243812.1	NP_000709.1|NP_001230741.1	Q00975	CAC1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	5	874	+	all_cancers(76;0.166)		243					B1AQK5	Silent	SNP	ENST00000371372.1	37	c.729G>A	CCDS59522.1																																																																																				0.557	CACNA1B-001	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055380.1	NM_000718		6	26	0	0	0	1	0	6	26					A	140809212	G	A	140809212	2	1	359	1	0	0	0	0	0	0	0	1	2539	1020	36	3		3	CACNA1B	9	140809212	Silent	SNP	G	TCGA-QU-A6IL-01A-11D-A31L-08	26463365	140809212	404219	27	17953											
OR52D1	390066	broad.mit.edu	37	chr11	5510455	5510455	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggcgactcccctactgtggTcaccgtgtcatgacacacac	9	8	9	15	2	2	1	2	1	0	0	3	2	3	1	3	2	1	0	3	2	1	1			TCGA-QU-A6IL-01A-11D-A31L-08	TCGA-QU-A6IL-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d5ce82e-de92-420b-abab-003d7bee208e	c2fe33a1-6c76-42e6-9708-e7ea911d2f85	g.chr11:5510455T>C	ENST00000322641.5	+	1	541	c.519T>C	c.(517-519)ggT>ggC	p.G173G	HBG2_ENST00000380259.2_Intron|HBG2_ENST00000380252.1_Intron|AC104389.28_ENST00000415970.1_RNA|HBE1_ENST00000380237.1_Intron	NM_001005163.2	NP_001005163.1	Q9H346	O52D1_HUMAN	olfactory receptor, family 52, subfamily D, member 1	173					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	22		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;3.46e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CCTACTGTGGTCACCGTGTCA	0.512																																						ENST00000322641.5																			0				central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	22						c.(517-519)ggT>ggC		olfactory receptor, family 52, subfamily D, member 1							307	276	287					11																	5510455		2201	4297	6498	SO:0001819	synonymous_variant	390066				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5510455T>C	BK004276	CCDS31384.1	11p15.4	2012-08-09			ENSG00000181609	ENSG00000181609		"GPCR / Class A : Olfactory receptors"	15212	protein-coding gene	gene with protein product							Standard	NM_001005163		Approved		uc010qzg.2	Q9H346	OTTHUMG00000066895	ENST00000322641.5:c.519T>C	11.37:g.5510455T>C						HBG2_ENST00000380259.2_Intron|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron|AC104389.28_ENST00000415970.1_RNA	p.G173G	NM_001005163.2	NP_001005163.1	Q9H346	O52D1_HUMAN		Epithelial(150;3.46e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	541	+		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)	173					B9EGY9|Q6IFI6	Silent	SNP	ENST00000322641.5	37	c.519T>C	CCDS31384.1																																																																																				0.512	OR52D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143372.1	NM_001005163		9	226	0	0	0	1	0	9	226					C	5510455	T	C	5510455	2	2	359	1	0	0	0	0	0	0	0	1	11114	1654	58	4		4	OR52D1	11	5510455	Silent	SNP	T	TCGA-QU-A6IL-01A-11D-A31L-08		5510455	129496061	28	17954											
OR5M1	390168	broad.mit.edu	37	chr11	56380363	56380363	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gaagagagagcttgagagatTaaagcctgcaactacaaaca	18	6	10	7	0	0	4	0	1	0	3	0	7	0	4	1	0	6	2	1	0	6	3			TCGA-QU-A6IL-01A-11D-A31L-08	TCGA-QU-A6IL-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d5ce82e-de92-420b-abab-003d7bee208e	c2fe33a1-6c76-42e6-9708-e7ea911d2f85	g.chr11:56380363T>G	ENST00000526538.1	-	1	615	c.616A>C	c.(616-618)Aat>Cat	p.N206H		NM_001004740.1	NP_001004740.1	Q8NGP8	OR5M1_HUMAN	olfactory receptor, family 5, subfamily M, member 1	206						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(7)|upper_aerodigestive_tract(1)	12						CTTGAGAGATTAAAGCCTGCA	0.443																																						ENST00000526538.1																			0				central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(7)|upper_aerodigestive_tract(1)	12						c.(616-618)Aat>Cat		olfactory receptor, family 5, subfamily M, member 1							83	78	79					11																	56380363		1902	4127	6029	SO:0001583	missense	390168				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56380363T>G	AB065742	CCDS53631.1	11q11	2012-08-09				ENSG00000255012		"GPCR / Class A : Olfactory receptors"	8352	protein-coding gene	gene with protein product							Standard	NM_001004740		Approved	OST050	uc001nja.1	Q8NGP8		ENST00000526538.1:c.616A>C	11.37:g.56380363T>G	ENSP00000435416:p.Asn206His						p.N206H	NM_001004740.1	NP_001004740.1	Q8NGP8	OR5M1_HUMAN			1	615	-			206					Q6IF60|Q96RB6	Missense_Mutation	SNP	ENST00000526538.1	37	c.616A>C	CCDS53631.1	.	.	.	.	.	.	.	.	.	.	T	10.09	1.255419	0.22965	.	.	ENSG00000255012	ENST00000526538	T	0.00137	8.68	3.71	3.71	0.42584	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00356	0.0011	M	0.71920	2.185	0.09310	N	1	D	0.67145	0.996	D	0.70487	0.969	T	0.50180	-0.8858	9	0.87932	D	0	.	6.4846	0.22081	0.3414:0.0:0.0:0.6586	.	206	Q8NGP8	OR5M1_HUMAN	H	206	ENSP00000435416:N206H	ENSP00000435416:N206H	N	-	1	0	OR5M1	56136939	0.001000	0.12720	0.005000	0.12908	0.508000	0.34012	0.796000	0.26986	1.586000	0.49944	0.232000	0.17820	AAT		0.443	OR5M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391610.1	NM_001004740		37	73	0	0	0	1	0	37	73					G	56380363	T	G	56380363	3	3	359	1	0	0	0	0	1	0	0	0	11172	1754	61	5	335	5	OR5M1	11	56380363	Missense_Mutation	SNP	T	TCGA-QU-A6IL-01A-11D-A31L-08	50869908	56380363	78626153	29	17955											
ARHGAP32	9743	broad.mit.edu	37	chr11	128844290	128844290	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagactgtaccaatgacttcTgacacccgtggtggtagggt	9	10	13	9	1	1	3	0	2	1	1	1	4	1	3	2	3	1	2	2	3	3	3			TCGA-QU-A6IL-01A-11D-A31L-08	TCGA-QU-A6IL-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d5ce82e-de92-420b-abab-003d7bee208e	c2fe33a1-6c76-42e6-9708-e7ea911d2f85	g.chr11:128844290T>C	ENST00000310343.9	-	20	2759	c.2760A>G	c.(2758-2760)tcA>tcG	p.S920S	ARHGAP32_ENST00000527272.1_Silent_p.S571S|ARHGAP32_ENST00000392657.3_Silent_p.S571S|ARHGAP32_ENST00000524655.1_Silent_p.S846S	NM_001142685.1	NP_001136157.1	A7KAX9	RHG32_HUMAN	Rho GTPase activating protein 32	920					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cell projection (GO:0042995)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|postsynaptic membrane (GO:0045211)	GTPase activator activity (GO:0005096)|phosphatidylinositol binding (GO:0035091)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(28)|ovary(3)|prostate(6)|urinary_tract(3)	60						CAATGACTTCTGACACCCGTG	0.453																																						ENST00000310343.9																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(28)|ovary(3)|prostate(6)|urinary_tract(3)	60						c.(2758-2760)tcA>tcG		Rho GTPase activating protein 32							179	164	169					11																	128844290		2201	4297	6498	SO:0001819	synonymous_variant	9743				cell communication|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell cortex|cell junction|cytosol|dendritic spine|endoplasmic reticulum membrane|endosome membrane|Golgi membrane|postsynaptic density|postsynaptic membrane	GTPase activator activity|phosphatidylinositol binding	g.chr11:128844290T>C	AB018255	CCDS31718.1, CCDS44769.1	11q24.3	2011-06-29			ENSG00000134909	ENSG00000134909		"Rho GTPase activating proteins"	17399	protein-coding gene	gene with protein product		608541				12446789, 12819203, 17663722	Standard	NM_014715		Approved	GRIT, KIAA0712, MGC1892, RICS, GC-GAP	uc009zcp.3	A7KAX9	OTTHUMG00000165774	ENST00000310343.9:c.2760A>G	11.37:g.128844290T>C						ARHGAP32_ENST00000524655.1_Silent_p.S846S|ARHGAP32_ENST00000392657.3_Silent_p.S571S|ARHGAP32_ENST00000527272.1_Silent_p.S571S	p.S920S	NM_001142685.1	NP_001136157.1	A7KAX9	RHG32_HUMAN			20	2759	-			920					I7H0B0|O94820|Q86YL6|Q8IUG4|Q9BWG3	Silent	SNP	ENST00000310343.9	37	c.2760A>G	CCDS44769.1																																																																																				0.453	ARHGAP32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386151.3	NM_014715		13	76	0	0	0	1	0	13	76					C	128844290	T	C	128844290	2	2	359	1	0	0	0	0	0	0	0	1	881	1567	55	4		4	ARHGAP32	11	128844290	Silent	SNP	T	TCGA-QU-A6IL-01A-11D-A31L-08	72463927	128844290	6162226	30	17956											
FOXA1	3169	broad.mit.edu	37	chr14	38061223	38061228	+	In_Frame_Del	DEL	TCTCGA	TCTCGA	-																															gcggcgcaagtagcagccgtTctcgaacatgttgccggagt																										TCGA-QU-A6IL-01A-11D-A31L-08	TCGA-QU-A6IL-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d5ce82e-de92-420b-abab-003d7bee208e	c2fe33a1-6c76-42e6-9708-e7ea911d2f85	g.chr14:38061223_38061228delTCTCGA	ENST00000250448.2	-	2	822_827	c.761_766delTCGAGA	c.(760-768)ttcgagaac>tac	p.254_256FEN>Y	FOXA1_ENST00000540786.1_In_Frame_Del_p.221_223FEN>Y|FOXA1_ENST00000545425.2_5'UTR	NM_004496.3	NP_004487.2	P55317	FOXA1_HUMAN	forkhead box A1	254					anatomical structure formation involved in morphogenesis (GO:0048646)|chromatin remodeling (GO:0006338)|dorsal/ventral neural tube patterning (GO:0021904)|epithelial cell maturation involved in prostate gland development (GO:0060743)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|epithelial-mesenchymal signaling involved in prostate gland development (GO:0060738)|glucose homeostasis (GO:0042593)|hormone metabolic process (GO:0042445)|lung epithelial cell differentiation (GO:0060487)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron fate specification (GO:0048665)|positive regulation of cell-cell adhesion mediated by cadherin (GO:2000049)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prostate gland epithelium morphogenesis (GO:0060740)|prostate gland stromal morphogenesis (GO:0060741)|response to estradiol (GO:0032355)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)	microvillus (GO:0005902)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|endometrium(1)|large_intestine(2)|lung(3)|prostate(12)	19	Breast(36;0.0954)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		Lung(238;5.41e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0454)|LUSC - Lung squamous cell carcinoma(13;0.0917)|all cancers(34;0.0925)|BRCA - Breast invasive adenocarcinoma(188;0.239)	GBM - Glioblastoma multiforme(112;0.0222)		TAGCAGCCGTTCTCGAACATGTTGCC	0.689																																						ENST00000250448.2																			0				breast(1)|endometrium(1)|large_intestine(2)|lung(3)|prostate(12)	19						c.(760-768)tac>t		forkhead box A1																																				SO:0001651	inframe_deletion	3169				chromatin remodeling|embryo development|epithelial cell maturation involved in prostate gland development|epithelial tube branching involved in lung morphogenesis|epithelial-mesenchymal signaling involved in prostate gland development|glucose homeostasis|lung epithelial cell differentiation|negative regulation of survival gene product expression|neuron fate specification|pattern specification process|positive regulation of estrogen receptor signaling pathway|positive regulation of mitotic cell cycle|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|prostate gland epithelium morphogenesis|prostate gland stromal morphogenesis|response to estradiol stimulus|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development	transcription factor complex	DNA bending activity|double-stranded DNA binding|protein domain specific binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding	g.chr14:38061223_38061228delTCTCGA	U39840	CCDS9665.1	14q12-q13	2008-04-10		2002-09-20	ENSG00000129514	ENSG00000129514		"Forkhead boxes"	5021	protein-coding gene	gene with protein product		602294	"hepatocyte nuclear factor 3, alpha"	HNF3A		9119385, 8652662	Standard	NM_004496		Approved		uc001wuf.4	P55317	OTTHUMG00000140253	ENST00000250448.2:c.761_766delTCGAGA	14.37:g.38061223_38061228delTCTCGA	ENSP00000250448:p.Phe254_Asn256delinsTyr					FOXA1_ENST00000545425.2_5'UTR|FOXA1_ENST00000540786.1_In_Frame_Del_p.FEN221del	p.FEN254del	NM_004496.3	NP_004487.2	P55317	FOXA1_HUMAN	Lung(238;5.41e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0454)|LUSC - Lung squamous cell carcinoma(13;0.0917)|all cancers(34;0.0925)|BRCA - Breast invasive adenocarcinoma(188;0.239)	GBM - Glioblastoma multiforme(112;0.0222)	2	822_827	-	Breast(36;0.0954)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		254					B2R9H6|B7ZAP5|Q9H2A0	In_Frame_Del	DEL	ENST00000250448.2	37	c.761_766delTCGAGA	CCDS9665.1																																																																																				0.689	FOXA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276735.1			19	26						19	26	---	---	---	---	-	38061228	TCTCGA	-	38061223	7	5	359	1	0	1	0	1	0	0	0	0	5989	1783	62	0	656	0	FOXA1	14	38061223	In_Frame_Del	DEL	TCTCGA	TCGA-QU-A6IL-01A-11D-A31L-08		38061223	69288317	31	17957											
KIAA1409	57578	broad.mit.edu	37	chr14	94088367	94088367	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaggtgaaagttgactcgccGgtaaagcctgctcctaaaga	12	8	12	9	2	0	3	0	2	0	1	2	4	1	3	3	2	2	3	3	2	5	3			TCGA-QU-A6IL-01A-11D-A31L-08	TCGA-QU-A6IL-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d5ce82e-de92-420b-abab-003d7bee208e	c2fe33a1-6c76-42e6-9708-e7ea911d2f85	g.chr14:94088367G>A	ENST00000393151.2	+	30	4788	c.4788G>A	c.(4786-4788)ccG>ccA	p.P1596P	UNC79_ENST00000553484.1_Silent_p.P1618P|UNC79_ENST00000256339.4_Silent_p.P1419P|UNC79_ENST00000555664.1_Silent_p.P1596P			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	1596					behavioral response to ethanol (GO:0048149)|ion transmembrane transport (GO:0034220)|multicellular organism growth (GO:0035264)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						TTGACTCGCCGGTAAAGCCTG	0.478																																						ENST00000553484.1																			0				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						c.(4852-4854)ccG>ccA		unc-79 homolog (C. elegans)							69	73	72					14																	94088367		2203	4300	6503	SO:0001819	synonymous_variant	57578					integral to membrane		g.chr14:94088367G>A	AB037830	CCDS9911.2	14q32.13	2011-08-18	2011-08-18	2011-08-18	ENSG00000133958	ENSG00000133958			19966	protein-coding gene	gene with protein product			"KIAA1409"	KIAA1409		20714347, 21040849	Standard	NM_020818		Approved		uc001ybs.1	Q9P2D8	OTTHUMG00000029783	ENST00000393151.2:c.4788G>A	14.37:g.94088367G>A						UNC79_ENST00000256339.4_Silent_p.P1419P|UNC79_ENST00000555664.1_Silent_p.P1596P|UNC79_ENST00000393151.2_Silent_p.P1596P	p.P1618P			Q9P2D8	UNC79_HUMAN			31	5008	+			1596					B5MDL6|Q6ZUT7	Silent	SNP	ENST00000393151.2	37	c.4854G>A																																																																																					0.478	UNC79-006	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000412766.1	XM_028395		4	127	0	0	0	1	0	4	127					A	94088367	G	A	94088367	2	1	359	1	0	0	0	0	0	0	0	1	8230	1103	39	2		2	KIAA1409	14	94088367	Silent	SNP	G	TCGA-QU-A6IL-01A-11D-A31L-08	56027144	94088367	13261173	32	17958											
PHKB	5257	broad.mit.edu	37	chr16	47694671	47694671	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ctgaactgggacagcagccgGatgtcaacattagtgaatgg	12	8	13	8	1	1	2	1	2	0	0	1	4	1	4	1	3	4	1	1	3	4	1			TCGA-QU-A6IL-01A-11D-A31L-08	TCGA-QU-A6IL-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d5ce82e-de92-420b-abab-003d7bee208e	c2fe33a1-6c76-42e6-9708-e7ea911d2f85	g.chr16:47694671G>A	ENST00000323584.5	+	22	2161	c.2137G>A	c.(2137-2139)Gat>Aat	p.D713N	PHKB_ENST00000299167.8_Missense_Mutation_p.D713N|PHKB_ENST00000566044.1_Missense_Mutation_p.D706N|PHKB_ENST00000455779.1_Missense_Mutation_p.D706N	NM_000293.2	NP_000284.1	Q93100	KPBB_HUMAN	phosphorylase kinase, beta	713					carbohydrate metabolic process (GO:0005975)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|glycogen metabolic process (GO:0005977)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|phosphorylase kinase complex (GO:0005964)|plasma membrane (GO:0005886)	hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)|phosphorylase kinase activity (GO:0004689)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|liver(1)|lung(18)|ovary(1)|skin(1)	41		all_cancers(37;0.00447)|all_lung(18;0.00616)|Lung NSC(13;0.0418)|Breast(268;0.203)				ACAGCAGCCGGATGTCAACAT	0.463																																						ENST00000455779.1																			0				breast(2)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|liver(1)|lung(18)|ovary(1)|skin(1)	41						c.(2116-2118)Gat>Aat		phosphorylase kinase, beta							104	99	101					16																	47694671		2201	4300	6501	SO:0001583	missense	5257				glucose metabolic process|glycogen catabolic process	cytosol|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity	g.chr16:47694671G>A		CCDS10729.1, CCDS42161.1	16q12-q13	2009-07-10			ENSG00000102893	ENSG00000102893	2.7.11.19		8927	protein-coding gene	gene with protein product		172490					Standard	NM_000293		Approved		uc002eev.4	Q93100	OTTHUMG00000133102	ENST00000323584.5:c.2137G>A	16.37:g.47694671G>A	ENSP00000313504:p.Asp713Asn					PHKB_ENST00000299167.8_Missense_Mutation_p.D713N|PHKB_ENST00000566044.1_Missense_Mutation_p.D706N|PHKB_ENST00000323584.5_Missense_Mutation_p.D713N	p.D706N			Q93100	KPBB_HUMAN			23	2301	+		all_cancers(37;0.00447)|all_lung(18;0.00616)|Lung NSC(13;0.0418)|Breast(268;0.203)	713					Q8N4T5	Missense_Mutation	SNP	ENST00000323584.5	37	c.2116G>A	CCDS10729.1	.	.	.	.	.	.	.	.	.	.	G	9.826	1.187087	0.21870	.	.	ENSG00000102893	ENST00000299167;ENST00000455779;ENST00000323584	D;D	0.90788	-2.73;-2.73	5.69	3.75	0.43078	Glycoside hydrolase 15-related (1);	0.164881	0.53938	D	0.000044	D	0.85379	0.5683	L	0.35414	1.06	0.38110	D	0.937548	B;B	0.25007	0.029;0.116	B;B	0.29267	0.063;0.1	T	0.81276	-0.1006	10	0.38643	T	0.18	-5.558	12.1172	0.53872	0.1381:0.0:0.8619:0.0	.	713;706	Q93100;Q93100-4	KPBB_HUMAN;.	N	706;706;713	ENSP00000414345:D706N;ENSP00000313504:D713N	ENSP00000299167:D706N	D	+	1	0	PHKB	46252172	1.000000	0.71417	0.001000	0.08648	0.004000	0.04260	6.312000	0.72840	0.772000	0.33382	-0.237000	0.12165	GAT		0.463	PHKB-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000430413.1			66	76	0	0	0	1	0	66	76					A	47694671	G	A	47694671	3	1	359	1	0	0	0	0	1	0	0	0	11845	1174	41	3	2282	3	PHKB	16	47694671	Missense_Mutation	SNP	G	TCGA-QU-A6IL-01A-11D-A31L-08		47694671	42660082	33	17959											
CDK10	8558	broad.mit.edu	37	chr16	89760586	89760586	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgcttctgtgtgtaggtaccGagcccctgaactgctgttgg	5	13	13	10	1	1	1	0	1	1	0	1	2	1	1	3	2	5	5	3	2	3	4			TCGA-QU-A6IL-01A-11D-A31L-08	TCGA-QU-A6IL-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d5ce82e-de92-420b-abab-003d7bee208e	c2fe33a1-6c76-42e6-9708-e7ea911d2f85	g.chr16:89760586G>A	ENST00000353379.7	+	9	657	c.614G>A	c.(613-615)cGa>cAa	p.R205Q	CDK10_ENST00000331006.8_Missense_Mutation_p.R158Q|CDK10_ENST00000505473.1_Missense_Mutation_p.R134Q	NM_001098533.2|NM_001160367.1|NM_052988.4	NP_001092003.2|NP_001153839.1|NP_443714.3	Q15131	CDK10_HUMAN	cyclin-dependent kinase 10	205	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				negative regulation of cell proliferation (GO:0008285)|traversing start control point of mitotic cell cycle (GO:0007089)		ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)			ovary(1)	1		Lung NSC(15;2.19e-05)|all_lung(18;3.07e-05)|all_hematologic(23;0.0256)		BRCA - Breast invasive adenocarcinoma(80;0.0276)		TGTAGGTACCGAGCCCCTGAA	0.637																																						ENST00000331006.8																			0				ovary(1)	1						c.(472-474)cGa>cAa		cyclin-dependent kinase 10							125	97	106					16																	89760586		2198	4300	6498	SO:0001583	missense	8558				negative regulation of cell proliferation|traversing start control point of mitotic cell cycle		ATP binding|cyclin-dependent protein kinase activity|protein binding	g.chr16:89760586G>A	L33264	CCDS10984.2, CCDS32514.1, CCDS32514.2	16q24.3	2011-11-08	2007-11-21		ENSG00000185324	ENSG00000185324		"Cyclin-dependent kinases"	1770	protein-coding gene	gene with protein product		603464	"cyclin-dependent kinase (CDC2-like) 10"			8208557, 8084611	Standard	NM_052988		Approved	PISSLRE	uc010cio.3	Q15131	OTTHUMG00000138049	ENST00000353379.7:c.614G>A	16.37:g.89760586G>A	ENSP00000338673:p.Arg205Gln					CDK10_ENST00000505473.1_Missense_Mutation_p.R134Q|CDK10_ENST00000353379.7_Missense_Mutation_p.R205Q	p.R158Q			Q15131	CDK10_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0276)	8	2214	+		Lung NSC(15;2.19e-05)|all_lung(18;3.07e-05)|all_hematologic(23;0.0256)	205			Protein kinase.		A8K370|A8K8I6|A8MXU6|B3KQJ3|B7Z420|D3DX82|D3DX83|Q0VGZ7|Q15130|Q6PJC0	Missense_Mutation	SNP	ENST00000353379.7	37	c.473G>A	CCDS10984.2	.	.	.	.	.	.	.	.	.	.	G	31	5.087672	0.94100	.	.	ENSG00000185324	ENST00000331006;ENST00000393082;ENST00000505473;ENST00000353379	T;T;T	0.51325	0.71;0.71;0.71	5.82	5.82	0.92795	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.79423	0.4443	H	0.95539	3.685	0.80722	D	1	D;D;D	0.69078	0.996;0.995;0.997	D;D;D	0.72982	0.979;0.967;0.941	D	0.84937	0.0863	10	0.87932	D	0	-10.2627	19.7523	0.96271	0.0:0.0:1.0:0.0	.	205;134;134	Q15131;Q15131-3;Q15131-4	CDK10_HUMAN;.;.	Q	158;176;134;205	ENSP00000329957:R158Q;ENSP00000424415:R134Q;ENSP00000338673:R205Q	ENSP00000329957:R158Q	R	+	2	0	CDK10	88288087	0.959000	0.32827	0.996000	0.52242	0.506000	0.33950	2.907000	0.48743	2.768000	0.95171	0.650000	0.86243	CGA		0.637	CDK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269925.2			3	24	0	0	0	1	0	3	24					A	89760586	G	A	89760586	3	1	359	1	0	0	0	0	1	0	0	0	3125	1058	37	2	648	2	CDK10	16	89760586	Missense_Mutation	SNP	G	TCGA-QU-A6IL-01A-11D-A31L-08	42065915	89760586	594167	34	17960											
KCNH4	23415	broad.mit.edu	37	chr17	40323995	40323995	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caacagccgcactgtcttcaGtaggtgcaccagcgaggtct	9	8	11	13	2	3	0	1	0	2	0	3	1	3	0	2	2	4	3	2	2	2	2			TCGA-QU-A6IL-01A-11D-A31L-08	TCGA-QU-A6IL-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d5ce82e-de92-420b-abab-003d7bee208e	c2fe33a1-6c76-42e6-9708-e7ea911d2f85	g.chr17:40323995G>A	ENST00000264661.3	-	7	1338	c.1006C>T	c.(1006-1008)Ctg>Ttg	p.L336L	KCNH4_ENST00000607371.1_Silent_p.L336L	NM_012285.2	NP_036417.1	Q9UQ05	KCNH4_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 4	336					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|urinary_tract(1)	32		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.126)		aCTGTCTTCAGTAGGTGCACC	0.647																																					NSCLC(117;707 1703 2300 21308 31858)	ENST00000264661.3																			0				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|urinary_tract(1)	32						c.(1006-1008)Ctg>Ttg		potassium voltage-gated channel, subfamily H (eag-related), member 4							39	27	31					17																	40323995		2200	4298	6498	SO:0001819	synonymous_variant	23415				regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	two-component sensor activity|voltage-gated potassium channel activity	g.chr17:40323995G>A	AB022698	CCDS11420.1	17q21	2012-07-05				ENSG00000089558		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6253	protein-coding gene	gene with protein product		604528				10455180, 16382104	Standard	NM_012285		Approved	Kv12.3, elk1	uc002hzb.2	Q9UQ05		ENST00000264661.3:c.1006C>T	17.37:g.40323995G>A						KCNH4_ENST00000607371.1_Silent_p.L336L	p.L336L	NM_012285.2	NP_036417.1	Q9UQ05	KCNH4_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.126)	7	1338	-		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)	336						Silent	SNP	ENST00000264661.3	37	c.1006C>T	CCDS11420.1																																																																																				0.647	KCNH4-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449791.2	NM_012285		4	18	0	0	0	1	0	4	18					A	40323995	G	A	40323995	2	1	359	1	0	0	0	0	0	0	0	1	8034	1020	36	3		3	KCNH4	17	40323995	Silent	SNP	G	TCGA-QU-A6IL-01A-11D-A31L-08		40323995	40871215	35	17961											
GFAP	2670	broad.mit.edu	37	chr17	42989096	42989096	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcaactggcgccggtagtCgttggcttcgtgcttggcct	3	12	14	12	4	0	0	0	0	0	0	2	0	0	0	2	4	3	5	2	4	2	4			TCGA-QU-A6IL-01A-11D-A31L-08	TCGA-QU-A6IL-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d5ce82e-de92-420b-abab-003d7bee208e	c2fe33a1-6c76-42e6-9708-e7ea911d2f85	g.chr17:42989096C>A	ENST00000253408.5	-	5	915	c.850G>T	c.(850-852)Gac>Tac	p.D284Y	GFAP_ENST00000435360.2_Missense_Mutation_p.D284Y|GFAP_ENST00000588735.1_Intron|GFAP_ENST00000586793.1_Missense_Mutation_p.D284Y|GFAP_ENST00000591327.1_5'Flank	NM_002055.4	NP_002046.1	P14136	GFAP_HUMAN	glial fibrillary acidic protein	284	Coil 2B.|Rod.				astrocyte development (GO:0014002)|Bergmann glial cell differentiation (GO:0060020)|extracellular matrix organization (GO:0030198)|intermediate filament organization (GO:0045109)|long-term synaptic potentiation (GO:0060291)|negative regulation of neuron projection development (GO:0010977)|neuron projection regeneration (GO:0031102)|positive regulation of Schwann cell proliferation (GO:0010625)|regulation of neurotransmitter uptake (GO:0051580)|response to wounding (GO:0009611)	astrocyte projection (GO:0097449)|cell body (GO:0044297)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intermediate filament (GO:0005882)|membrane (GO:0016020)	structural constituent of cytoskeleton (GO:0005200)			endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(11)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	23		Prostate(33;0.0959)				CGCCGGTAGTCGTTGGCTTCG	0.682																																						ENST00000253408.5																			0				endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(11)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	23						c.(850-852)Gac>Tac		glial fibrillary acidic protein							52	49	50					17																	42989096		2203	4300	6503	SO:0001583	missense	2670					cytoplasm|intermediate filament	structural constituent of cytoskeleton	g.chr17:42989096C>A	S40719	CCDS11491.1, CCDS45708.1, CCDS59296.1	17q21	2013-01-16						"Intermediate filaments type III"	4235	protein-coding gene	gene with protein product	"intermediate filament protein"	137780				9693047	Standard	NM_002055		Approved	FLJ45472	uc002ihq.3	P14136		ENST00000253408.5:c.850G>T	17.37:g.42989096C>A	ENSP00000253408:p.Asp284Tyr					GFAP_ENST00000588735.1_Intron|GFAP_ENST00000435360.2_Missense_Mutation_p.D284Y|GFAP_ENST00000586793.1_Missense_Mutation_p.D284Y	p.D284Y	NM_002055.4	NP_002046.1	P14136	GFAP_HUMAN			5	915	-		Prostate(33;0.0959)	284			Coil 2B.|Rod.		B2RD44|D3DX59|E9PAX3|Q53H98|Q5D055|Q6ZQS3|Q7Z5J6|Q7Z5J7|Q96KS4|Q96P18|Q9UFD0	Missense_Mutation	SNP	ENST00000253408.5	37	c.850G>T	CCDS11491.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.301725	0.81136	.	.	ENSG00000131095	ENST00000253408;ENST00000421021;ENST00000435360	D;D	0.97186	-4.28;-4.28	4.38	4.38	0.52667	Filament (1);	0.181162	0.48286	D	0.000195	D	0.98507	0.9502	M	0.86502	2.82	0.58432	D	0.999999	D;D	0.76494	0.999;0.991	D;D	0.70935	0.971;0.957	D	0.99150	1.0858	10	0.87932	D	0	.	17.9011	0.88904	0.0:1.0:0.0:0.0	.	284;284	E9PAX3;P14136	.;GFAP_HUMAN	Y	284;259;284	ENSP00000253408:D284Y;ENSP00000403962:D284Y	ENSP00000253408:D284Y	D	-	1	0	GFAP	40344622	1.000000	0.71417	0.998000	0.56505	0.413000	0.31143	5.897000	0.69831	2.751000	0.94390	0.650000	0.86243	GAC		0.682	GFAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448701.1	NM_002055		39	53	1	0	2.91434e-09	1	3.27863e-09	39	53					A	42989096	C	A	42989096	3	1	359	1	0	0	0	0	1	0	0	0	6337	884	31	5	597	5	GFAP	17	42989096	Missense_Mutation	SNP	C	TCGA-QU-A6IL-01A-11D-A31L-08	2665101	42989096	38206114	36	17962											
NOTCH3	4854	broad.mit.edu	37	chr19	15278212	15278212	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctcctcagcccccatgcctGgctcctctacctggaggggc	4	8	10	19	0	2	0	1	0	1	0	4	1	4	1	7	4	3	1	7	4	1	1			TCGA-QU-A6IL-01A-11D-A31L-08	TCGA-QU-A6IL-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d5ce82e-de92-420b-abab-003d7bee208e	c2fe33a1-6c76-42e6-9708-e7ea911d2f85	g.chr19:15278212G>A	ENST00000263388.2	-	29	5285	c.5210C>T	c.(5209-5211)cCa>cTa	p.P1737L		NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	notch 3	1737					forebrain development (GO:0030900)|gene expression (GO:0010467)|glomerular capillary formation (GO:0072104)|negative regulation of neuron differentiation (GO:0045665)|neuron fate commitment (GO:0048663)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|positive regulation of smooth muscle cell proliferation (GO:0048661)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			CCCCATGCCTGGCTCCTCTAC	0.622																																						ENST00000263388.2																			0				breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93						c.(5209-5211)cCa>cTa		notch 3							63	51	55					19																	15278212		2203	4300	6503	SO:0001583	missense	4854				Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	g.chr19:15278212G>A	U97669	CCDS12326.1	19p13.2-p13.1	2013-01-10	2010-06-24			ENSG00000074181		"Ankyrin repeat domain containing"	7883	protein-coding gene	gene with protein product		600276	"Notch (Drosophila) homolog 3", "Notch homolog 3 (Drosophila)"	CADASIL		7835890	Standard	NM_000435		Approved	CASIL	uc002nan.3	Q9UM47		ENST00000263388.2:c.5210C>T	19.37:g.15278212G>A	ENSP00000263388:p.Pro1737Leu						p.P1737L	NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)		29	5285	-			1737					Q9UEB3|Q9UPL3|Q9Y6L8	Missense_Mutation	SNP	ENST00000263388.2	37	c.5210C>T	CCDS12326.1	.	.	.	.	.	.	.	.	.	.	G	4.582	0.108147	0.08780	.	.	ENSG00000074181	ENST00000263388	D	0.81499	-1.5	4.79	2.48	0.30137	.	.	.	.	.	T	0.78285	0.4259	L	0.49126	1.545	0.49051	D	0.999748	D	0.55605	0.972	P	0.52267	0.694	T	0.71705	-0.4512	9	0.27082	T	0.32	.	7.3195	0.26519	0.1649:0.0:0.6963:0.1387	.	1737	Q9UM47	NOTC3_HUMAN	L	1737	ENSP00000263388:P1737L	ENSP00000263388:P1737L	P	-	2	0	NOTCH3	15139212	0.997000	0.39634	0.411000	0.26484	0.155000	0.21991	2.438000	0.44837	0.442000	0.26555	-1.595000	0.00837	CCA		0.622	NOTCH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465714.1	NM_000435		25	41	0	0	0	1	0	25	41					A	15278212	G	A	15278212	3	1	359	1	0	0	0	0	1	0	0	0	10550	1348	47	3	1775	3	NOTCH3	19	15278212	Missense_Mutation	SNP	G	TCGA-QU-A6IL-01A-11D-A31L-08		15278212	43850771	37	17963											
ZNF573	126231	broad.mit.edu	37	chr19	38230198	38230198	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gatgttgaaagagttttgaaCcagtagtataggtcttccca	12	13	10	6	0	1	3	0	2	1	1	2	4	2	3	2	1	1	4	2	1	5	7			TCGA-QU-A6IL-01A-11D-A31L-08	TCGA-QU-A6IL-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d5ce82e-de92-420b-abab-003d7bee208e	c2fe33a1-6c76-42e6-9708-e7ea911d2f85	g.chr19:38230198C>A	ENST00000590414.2	-	4	1214	c.1193G>T	c.(1192-1194)gGt>gTt	p.G398V	ZNF573_ENST00000536220.1_Missense_Mutation_p.G310V|ZNF573_ENST00000392138.1_Missense_Mutation_p.G311V|ZNF573_ENST00000357309.3_Missense_Mutation_p.G310V|ZNF573_ENST00000339503.4_Missense_Mutation_p.G340V			Q86YE8	ZN573_HUMAN	zinc finger protein 573	398					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|cervix(3)|endometrium(2)|large_intestine(8)|liver(1)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25			UCEC - Uterine corpus endometrioid carcinoma (49;0.0775)|Lung(45;0.0813)|LUSC - Lung squamous cell carcinoma(53;0.146)			GAGTTTTGAACCAGTAGTATA	0.378																																						ENST00000339503.4																			0				NS(1)|cervix(3)|endometrium(2)|large_intestine(8)|liver(1)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						c.(1018-1020)gGt>gTt		zinc finger protein 573							113	113	113					19																	38230198		2203	4300	6503	SO:0001583	missense	126231				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:38230198C>A	AK074539	CCDS12508.1, CCDS54260.1, CCDS59381.1	19q13.12	2013-09-20			ENSG00000189144	ENSG00000189144		"Zinc fingers, C2H2-type", "-"	26420	protein-coding gene	gene with protein product						12477932	Standard	NM_152360		Approved	FLJ30921	uc002ohe.3	Q86YE8	OTTHUMG00000048183	ENST00000590414.2:c.1193G>T	19.37:g.38230198C>A	ENSP00000465020:p.Gly398Val					ZNF573_ENST00000590414.2_Missense_Mutation_p.G398V|ZNF573_ENST00000392138.1_Missense_Mutation_p.G311V|ZNF573_ENST00000357309.3_Missense_Mutation_p.G310V|ZNF573_ENST00000536220.1_Missense_Mutation_p.G310V	p.G340V	NM_152360.3	NP_689573.3	Q86YE8	ZN573_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (49;0.0775)|Lung(45;0.0813)|LUSC - Lung squamous cell carcinoma(53;0.146)		8	1520	-			378					B7WPE1|K7EJ45|Q6P1P1|Q7Z7Q3|Q8N2Q1|Q96BM3|Q96NH0	Missense_Mutation	SNP	ENST00000590414.2	37	c.1019G>T	CCDS59381.1	.	.	.	.	.	.	.	.	.	.	C	9.327	1.059654	0.19987	.	.	ENSG00000189144	ENST00000392138;ENST00000536220;ENST00000357309;ENST00000339503;ENST00000427026	T;T;T;T	0.07444	3.19;3.19;3.19;3.19	1.96	0.808	0.18719	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.03651	0.0104	N	0.11284	0.12	0.09310	N	1	B;B;B;B	0.11235	0.002;0.002;0.002;0.004	B;B;B;B	0.04013	0.0;0.001;0.0;0.001	T	0.43097	-0.9412	9	0.39692	T	0.17	.	0.8285	0.01126	0.2421:0.3597:0.2383:0.1599	.	311;340;378;310	Q86YE8-4;Q86YE8-3;Q86YE8;Q86YE8-2	.;.;ZN573_HUMAN;.	V	311;310;310;340;310	ENSP00000375983:G311V;ENSP00000440464:G310V;ENSP00000349861:G310V;ENSP00000340171:G340V	ENSP00000340171:G340V	G	-	2	0	ZNF573	42922038	0.000000	0.05858	0.480000	0.27341	0.896000	0.52359	-3.234000	0.00546	0.008000	0.14787	0.404000	0.27445	GGT		0.378	ZNF573-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459773.2	NM_152360		25	139	1	0	7.92952e-12	1	9.11051e-12	25	139					A	38230198	C	A	38230198	3	1	359	1	0	0	0	0	1	0	0	0	18002	507	18	5	808	5	ZNF573	19	38230198	Missense_Mutation	SNP	C	TCGA-QU-A6IL-01A-11D-A31L-08	22951986	38230198	20898785	38	17964											
SIPA1L3	23094	broad.mit.edu	37	chr19	38633280	38633280	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgacagagtccctccctacCgacagccttctgggagcttc	7	8	9	17	2	1	1	0	0	1	1	4	4	3	2	5	1	3	1	5	1	1	3			TCGA-QU-A6IL-01A-11D-A31L-08	TCGA-QU-A6IL-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d5ce82e-de92-420b-abab-003d7bee208e	c2fe33a1-6c76-42e6-9708-e7ea911d2f85	g.chr19:38633280C>A	ENST00000222345.6	+	12	3972	c.3463C>A	c.(3463-3465)Cga>Aga	p.R1155R		NM_015073.1	NP_055888.1	O60292	SI1L3_HUMAN	signal-induced proliferation-associated 1 like 3	1155					hematopoietic progenitor cell differentiation (GO:0002244)|regulation of small GTPase mediated signal transduction (GO:0051056)	extracellular space (GO:0005615)	GTPase activator activity (GO:0005096)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			CCCTCCCTACCGACAGCCTTC	0.572											OREG0025445	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000222345.6																			0				NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59						c.(3463-3465)Cga>Aga		signal-induced proliferation-associated 1 like 3							211	204	206					19																	38633280		2203	4300	6503	SO:0001819	synonymous_variant	23094				regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity	g.chr19:38633280C>A	AB011117	CCDS33007.1	19q13.13	2008-02-05			ENSG00000105738	ENSG00000105738			23801	protein-coding gene	gene with protein product							Standard	XM_005258671		Approved	KIAA0545	uc002ohk.3	O60292	OTTHUMG00000073727	ENST00000222345.6:c.3463C>A	19.37:g.38633280C>A			OREG0025445	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	879		p.R1155R	NM_015073.1	NP_055888.1	O60292	SI1L3_HUMAN	Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)		12	3972	+			1155					Q2TV87	Silent	SNP	ENST00000222345.6	37	c.3463C>A	CCDS33007.1																																																																																				0.572	SIPA1L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000156294.2	XM_032278		132	225	1	0	1.74412e-57	1	2.09294e-57	132	225					A	38633280	C	A	38633280	2	1	359	1	0	0	0	0	0	0	0	1	14331	644	23	5		5	SIPA1L3	19	38633280	Silent	SNP	C	TCGA-QU-A6IL-01A-11D-A31L-08	403082	38633280	20495703	39	17965											
ZNF780B	163131	broad.mit.edu	37	chr19	40540948	40540948	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagggcttctcaccagtatgAaatttctgatgtcgaataag	13	12	9	7	1	2	2	1	2	2	0	4	3	2	2	1	1	0	2	1	1	5	4	rs562969306		TCGA-QU-A6IL-01A-11D-A31L-08	TCGA-QU-A6IL-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d5ce82e-de92-420b-abab-003d7bee208e	c2fe33a1-6c76-42e6-9708-e7ea911d2f85	g.chr19:40540948A>G	ENST00000434248.1	-	5	1883	c.1818T>C	c.(1816-1818)ttT>ttC	p.F606F	ZNF780B_ENST00000221355.6_Silent_p.F458F	NM_001005851.2	NP_001005851.1	Q9Y6R6	Z780B_HUMAN	zinc finger protein 780B	606					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	23	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					CACCAGTATGAAATTTCTGAT	0.418																																						ENST00000434248.1																			0				endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	23						c.(1816-1818)ttT>ttC		zinc finger protein 780B							107	112	111					19																	40540948		2203	4300	6503	SO:0001819	synonymous_variant	163131				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:40540948A>G	AK127063	CCDS46077.1	19q13.2	2013-01-08	2006-08-15	2006-08-15	ENSG00000128000	ENSG00000128000		"Zinc fingers, C2H2-type", "-"	33109	protein-coding gene	gene with protein product			"zinc finger protein 779"	ZNF779			Standard	NM_001005851		Approved		uc002omu.3	Q9Y6R6	OTTHUMG00000155118	ENST00000434248.1:c.1818T>C	19.37:g.40540948A>G						ZNF780B_ENST00000221355.6_Silent_p.F458F	p.F606F	NM_001005851.2	NP_001005851.1	Q9Y6R6	Z780B_HUMAN			5	1883	-	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)		606					B9EH00	Silent	SNP	ENST00000434248.1	37	c.1818T>C	CCDS46077.1																																																																																				0.418	ZNF780B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338466.1	NM_001005851		9	129	0	0	0	1	0	9	129					G	40540948	A	G	40540948	2	3	359	1	0	0	0	0	0	0	0	1	18150	243	9	4		4	ZNF780B	19	40540948	Silent	SNP	A	TCGA-QU-A6IL-01A-11D-A31L-08	1907668	40540948	18588035	40	17966											
ZNF606	80095	broad.mit.edu	37	chr19	58490217	58490217	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aattatctcatgtttagtgaGggctgagcgttctctgaatg	9	15	11	6	1	2	3	1	3	2	0	4	3	2	3	0	1	1	3	0	1	4	4			TCGA-QU-A6IL-01A-11D-A31L-08	TCGA-QU-A6IL-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d5ce82e-de92-420b-abab-003d7bee208e	c2fe33a1-6c76-42e6-9708-e7ea911d2f85	g.chr19:58490217G>C	ENST00000341164.4	-	7	2451	c.1831C>G	c.(1831-1833)Ctc>Gtc	p.L611V	ZNF606_ENST00000536132.1_Missense_Mutation_p.L521V	NM_025027.3	NP_079303.2	Q8WXB4	ZN606_HUMAN	zinc finger protein 606	611					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)		TGTTTAGTGAGGGCTGAGCGT	0.433																																						ENST00000341164.4																			0				NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						c.(1831-1833)Ctc>Gtc		zinc finger protein 606							92	92	92					19																	58490217		2203	4300	6503	SO:0001583	missense	80095				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58490217G>C	AB058755	CCDS12968.1	19q13.43	2013-01-08			ENSG00000166704	ENSG00000166704		"Zinc fingers, C2H2-type", "-"	25879	protein-coding gene	gene with protein product		613905		ZNF328		11347906	Standard	XM_005259276		Approved	FLJ14260, KIAA1852	uc002qqw.3	Q8WXB4	OTTHUMG00000169804	ENST00000341164.4:c.1831C>G	19.37:g.58490217G>C	ENSP00000343617:p.Leu611Val					ZNF606_ENST00000536132.1_Missense_Mutation_p.L521V	p.L611V	NM_025027.3	NP_079303.2	Q8WXB4	ZN606_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)	7	2451	-		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)	611					A8KAN2|Q8NE04|Q96JH5	Missense_Mutation	SNP	ENST00000341164.4	37	c.1831C>G	CCDS12968.1	.	.	.	.	.	.	.	.	.	.	G	12.90	2.077548	0.36662	.	.	ENSG00000166704	ENST00000341164;ENST00000536132	T;T	0.52983	0.64;0.64	4.8	4.8	0.61643	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.168353	0.28821	N	0.014026	T	0.67795	0.2931	M	0.89658	3.05	0.35401	D	0.791582	D	0.56521	0.976	P	0.57679	0.825	T	0.80200	-0.1481	10	0.87932	D	0	.	11.272	0.49144	0.0889:0.0:0.9111:0.0	.	611	Q8WXB4	ZN606_HUMAN	V	611;521	ENSP00000343617:L611V;ENSP00000445624:L521V	ENSP00000343617:L611V	L	-	1	0	ZNF606	63182029	0.150000	0.22732	1.000000	0.80357	0.997000	0.91878	0.721000	0.25911	2.635000	0.89317	0.561000	0.74099	CTC		0.433	ZNF606-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405961.1	NM_025027		44	43	0	0	0	1	0	44	43					C	58490217	G	C	58490217	3	2	359	1	0	0	0	0	1	0	0	0	18029	1000	35	5	551	5	ZNF606	19	58490217	Missense_Mutation	SNP	G	TCGA-QU-A6IL-01A-11D-A31L-08	17949269	58490217	638766	41	17967											
CHGB	1114	broad.mit.edu	37	chr20	5904578	5904578	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gccagggtccccaagctggaCctgaaaaggcaatatgacag	13	5	12	11	0	0	2	0	2	0	0	1	3	1	3	4	3	1	2	4	3	5	1			TCGA-QU-A6IL-01A-11D-A31L-08	TCGA-QU-A6IL-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d5ce82e-de92-420b-abab-003d7bee208e	c2fe33a1-6c76-42e6-9708-e7ea911d2f85	g.chr20:5904578C>T	ENST00000378961.4	+	4	1992	c.1788C>T	c.(1786-1788)gaC>gaT	p.D596D		NM_001819.2	NP_001810.2	P05060	SCG1_HUMAN	chromogranin B (secretogranin 1)	596						extracellular region (GO:0005576)|secretory granule (GO:0030141)	hormone activity (GO:0005179)			breast(7)|kidney(2)|large_intestine(8)|lung(19)|ovary(1)|pancreas(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	47						CCAAGCTGGACCTGAAAAGGC	0.517																																						ENST00000378961.4																			0				breast(7)|kidney(2)|large_intestine(8)|lung(19)|ovary(1)|pancreas(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	47						c.(1786-1788)gaC>gaT		chromogranin B (secretogranin 1)							39	39	39					20																	5904578		2203	4300	6503	SO:0001819	synonymous_variant	1114					extracellular region	hormone activity	g.chr20:5904578C>T		CCDS13092.1	20p12.3	2013-09-19			ENSG00000089199	ENSG00000089199			1930	protein-coding gene	gene with protein product	"secretogranin B"	118920		SCG1		3608978	Standard	NM_001819		Approved		uc002wmg.3	P05060	OTTHUMG00000031821	ENST00000378961.4:c.1788C>T	20.37:g.5904578C>T							p.D596D	NM_001819.2	NP_001810.2	P05060	SCG1_HUMAN			4	1992	+			596					A8K021|Q59EU9|Q6IBS6|Q9BQV6|Q9UC25|Q9UJA6	Silent	SNP	ENST00000378961.4	37	c.1788C>T	CCDS13092.1																																																																																				0.517	CHGB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077897.2	NM_001819		7	64	0	0	0	1	0	7	64					T	5904578	C	T	5904578	2	4	359	1	0	0	0	0	0	0	0	1	3339	506	18	3		3	CHGB	20	5904578	Silent	SNP	C	TCGA-QU-A6IL-01A-11D-A31L-08		5904578	57120942	42	17968											
XPNPEP3	63929	broad.mit.edu	37	chr22	41277810	41277810	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	actatctcaggtggaatatgCacttcgcagacacaaactaa	15	9	7	10	1	1	1	1	0	1	1	3	2	1	2	0	2	2	2	0	2	5	4			TCGA-QU-A6IL-01A-11D-A31L-08	TCGA-QU-A6IL-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d5ce82e-de92-420b-abab-003d7bee208e	c2fe33a1-6c76-42e6-9708-e7ea911d2f85	g.chr22:41277810C>T	ENST00000357137.4	+	3	302	c.218C>T	c.(217-219)gCa>gTa	p.A73V	XPNPEP3_ENST00000544094.1_Missense_Mutation_p.A50V|XPNPEP3_ENST00000541156.1_Missense_Mutation_p.A73V|XPNPEP3_ENST00000414396.1_Missense_Mutation_p.A73V	NM_022098.3	NP_071381.1	Q9NQH7	XPP3_HUMAN	X-prolyl aminopeptidase (aminopeptidase P) 3, putative	73					glomerular filtration (GO:0003094)|protein processing (GO:0016485)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	aminopeptidase activity (GO:0004177)|manganese ion binding (GO:0030145)|metallopeptidase activity (GO:0008237)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	17						GTGGAATATGCACTTCGCAGA	0.453																																					Ovarian(145;306 1841 7037 21878 30110)	ENST00000357137.4																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	17						c.(217-219)gCa>gTa		X-prolyl aminopeptidase (aminopeptidase P) 3, putative							135	116	123					22																	41277810		2203	4300	6503	SO:0001583	missense	63929				cellular process	mitochondrion	aminopeptidase activity|manganese ion binding|metallopeptidase activity	g.chr22:41277810C>T		CCDS14007.1, CCDS74869.1	22q13.2	2010-07-20			ENSG00000196236	ENSG00000196236			28052	protein-coding gene	gene with protein product		613553				15708373, 20179356	Standard	NM_022098		Approved	APP3, NPHPL1	uc003azh.3	Q9NQH7	OTTHUMG00000151312	ENST00000357137.4:c.218C>T	22.37:g.41277810C>T	ENSP00000349658:p.Ala73Val					XPNPEP3_ENST00000541156.1_Missense_Mutation_p.A73V|XPNPEP3_ENST00000544094.1_Missense_Mutation_p.A50V|XPNPEP3_ENST00000414396.1_Missense_Mutation_p.A73V	p.A73V	NM_022098.3	NP_071381.1	Q9NQH7	XPP3_HUMAN			3	302	+			73					B2R9G1|B7Z790|B7Z7B2|Q6I9V9|Q8NDA6|Q9BV27|Q9BVH0	Missense_Mutation	SNP	ENST00000357137.4	37	c.218C>T	CCDS14007.1	.	.	.	.	.	.	.	.	.	.	C	17.13	3.310369	0.60414	.	.	ENSG00000196236	ENST00000541156;ENST00000414396;ENST00000357137;ENST00000544094	T;T;T;T	0.78126	-1.15;-1.15;-1.15;-1.15	6.01	6.01	0.97437	Peptidase M24B, X-Pro dipeptidase/aminopeptidase P N-terminal (1);	0.095903	0.64402	D	0.000001	T	0.76793	0.4037	M	0.64630	1.985	0.47276	D	0.999377	B;B	0.34290	0.447;0.163	B;B	0.32090	0.14;0.11	T	0.73043	-0.4107	10	0.30078	T	0.28	.	20.5751	0.99360	0.0:1.0:0.0:0.0	.	73;73	Q9NQH7-5;Q9NQH7	.;XPP3_HUMAN	V	73;73;73;50	ENSP00000443682:A73V;ENSP00000397110:A73V;ENSP00000349658:A73V;ENSP00000441942:A50V	ENSP00000349658:A73V	A	+	2	0	XPNPEP3	39607756	1.000000	0.71417	1.000000	0.80357	0.881000	0.50899	5.004000	0.63966	2.869000	0.98440	0.558000	0.71614	GCA		0.453	XPNPEP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322201.2	NM_022098		4	82	0	0	0	1	0	4	82					T	41277810	C	T	41277810	3	4	359	1	0	0	0	0	1	0	0	0	17441	710	25	3	228	3	XPNPEP3	22	41277810	Missense_Mutation	SNP	C	TCGA-QU-A6IL-01A-11D-A31L-08		41277810	10026756	43	17969											
ARHGEF10L	55160	broad.mit.edu	37	chr1	17914091	17914091	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtccccagccttgctcctgaGagggacacagaccccccact	8	6	9	18	0	0	2	0	1	0	2	2	4	2	3	7	1	2	1	7	1	0	1			TCGA-QU-A6IM-01A-11D-A31L-08	TCGA-QU-A6IM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c46bdf0-625f-4d00-ae75-b9e83d2fe3ea	84da4992-73f8-4179-bc14-13735496a930	g.chr1:17914091G>C	ENST00000361221.3	+	3	333	c.174G>C	c.(172-174)gaG>gaC	p.E58D	ARHGEF10L_ENST00000452522.1_Missense_Mutation_p.E58D|ARHGEF10L_ENST00000434513.1_Missense_Mutation_p.E58D|ARHGEF10L_ENST00000375415.1_Missense_Mutation_p.E58D|ARHGEF10L_ENST00000375420.3_5'Flank	NM_018125.3	NP_060595	Q9HCE6	ARGAL_HUMAN	Rho guanine nucleotide exchange factor (GEF) 10-like	58						cytoplasm (GO:0005737)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	43		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00598)|COAD - Colon adenocarcinoma(227;1.62e-05)|BRCA - Breast invasive adenocarcinoma(304;1.68e-05)|Kidney(64;0.000269)|KIRC - Kidney renal clear cell carcinoma(64;0.00361)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0718)|Lung(427;0.204)		TTGCTCCTGAGAGGGACACAG	0.587																																						ENST00000361221.3																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	43						c.(172-174)gaG>gaC		Rho guanine nucleotide exchange factor (GEF) 10-like							148	162	157					1																	17914091		2203	4300	6503	SO:0001583	missense	55160				regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity	g.chr1:17914091G>C	AB046846	CCDS182.1, CCDS30617.1	1p36.13	2011-11-16			ENSG00000074964	ENSG00000074964		"Rho guanine nucleotide exchange factors"	25540	protein-coding gene	gene with protein product	"GrinchGEF"	612494				10997877, 16112081	Standard	XM_005245923		Approved	FLJ10521, KIAA1626	uc001ban.3	Q9HCE6	OTTHUMG00000002514	ENST00000361221.3:c.174G>C	1.37:g.17914091G>C	ENSP00000355060:p.Glu58Asp					ARHGEF10L_ENST00000375415.1_Missense_Mutation_p.E58D|ARHGEF10L_ENST00000452522.1_Missense_Mutation_p.E58D|ARHGEF10L_ENST00000434513.1_Missense_Mutation_p.E58D	p.E58D	NM_018125.3	NP_060595.3	Q9HCE6	ARGAL_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00598)|COAD - Colon adenocarcinoma(227;1.62e-05)|BRCA - Breast invasive adenocarcinoma(304;1.68e-05)|Kidney(64;0.000269)|KIRC - Kidney renal clear cell carcinoma(64;0.00361)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0718)|Lung(427;0.204)	3	333	+		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)	58					B7ZKS1|Q17RW1|Q3YFJ4|Q5VXI5|Q5VXI6|Q66K51|Q6P0L7|Q8NAV5|Q9NVT3	Missense_Mutation	SNP	ENST00000361221.3	37	c.174G>C	CCDS182.1	.	.	.	.	.	.	.	.	.	.	G	8.705	0.910740	0.17833	.	.	ENSG00000074964	ENST00000361221;ENST00000452522;ENST00000434513;ENST00000375415	T;T;T;T	0.61274	0.31;0.24;0.12;0.24	4.52	3.59	0.41128	.	1.249090	0.05716	N	0.596884	T	0.46132	0.1377	L	0.27053	0.805	0.20563	N	0.999888	B;B;B;B	0.21606	0.042;0.027;0.058;0.011	B;B;B;B	0.22880	0.033;0.042;0.042;0.014	T	0.32295	-0.9912	10	0.24483	T	0.36	-1.5486	9.1753	0.37107	0.1048:0.0:0.8952:0.0	.	58;58;58;58	Q9HCE6-5;Q9HCE6-3;Q9HCE6-2;Q9HCE6	.;.;.;ARGAL_HUMAN	D	58	ENSP00000355060:E58D;ENSP00000399401:E58D;ENSP00000394621:E58D;ENSP00000364564:E58D	ENSP00000355060:E58D	E	+	3	2	ARHGEF10L	17786678	0.014000	0.17966	0.001000	0.08648	0.013000	0.08279	1.349000	0.33998	1.005000	0.39183	0.561000	0.74099	GAG		0.587	ARHGEF10L-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000007147.1	NM_018125		78	211	0	0	0	1	0	78	211					C	17914091	G	C	17914091	3	2	360	1	0	0	0	0	1	0	0	0	895	933	33	5	180	5	ARHGEF10L	1	17914091	Missense_Mutation	SNP	G	TCGA-QU-A6IM-01A-11D-A31L-08		17914091	231336530	1	17970											
LUZP1	7798	broad.mit.edu	37	chr1	23419974	23419974	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacctgctttaggtagtccaGaccacccttccttcttgatt	7	15	6	13	0	1	2	0	1	1	1	3	2	3	2	5	1	2	2	5	1	3	8			TCGA-QU-A6IM-01A-11D-A31L-08	TCGA-QU-A6IM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c46bdf0-625f-4d00-ae75-b9e83d2fe3ea	84da4992-73f8-4179-bc14-13735496a930	g.chr1:23419974G>T	ENST00000302291.4	-	4	1582	c.781C>A	c.(781-783)Ctg>Atg	p.L261M	LUZP1_ENST00000418342.1_Missense_Mutation_p.L261M|LUZP1_ENST00000314174.5_Missense_Mutation_p.L261M|LUZP1_ENST00000374623.3_Missense_Mutation_p.L261M			Q86V48	LUZP1_HUMAN	leucine zipper protein 1	261					artery development (GO:0060840)|neural fold bending (GO:0021503)|ventricular septum development (GO:0003281)	membrane (GO:0016020)|nucleus (GO:0005634)				NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(12)|upper_aerodigestive_tract(2)	31		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Ovarian(437;0.00373)|Breast(348;0.00815)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;4.88e-27)|Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;4.31e-06)|GBM - Glioblastoma multiforme(114;8.64e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00112)|KIRC - Kidney renal clear cell carcinoma(1967;0.00176)|STAD - Stomach adenocarcinoma(196;0.0146)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.0967)|LUSC - Lung squamous cell carcinoma(448;0.199)		AGGTAGTCCAGACCACCCTTC	0.408																																						ENST00000302291.4																			0				NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(12)|upper_aerodigestive_tract(2)	31						c.(781-783)Ctg>Atg		leucine zipper protein 1							155	144	148					1																	23419974		2203	4300	6503	SO:0001583	missense	7798					nucleus		g.chr1:23419974G>T	BC051733	CCDS30628.1	1p36	2008-02-05			ENSG00000169641	ENSG00000169641			14985	protein-coding gene	gene with protein product		601422				8812416	Standard	NM_033631		Approved	LUZP	uc010odv.1	Q86V48	OTTHUMG00000003227	ENST00000302291.4:c.781C>A	1.37:g.23419974G>T	ENSP00000303758:p.Leu261Met					LUZP1_ENST00000314174.5_Missense_Mutation_p.L261M|LUZP1_ENST00000374623.3_Missense_Mutation_p.L261M|LUZP1_ENST00000418342.1_Missense_Mutation_p.L261M	p.L261M			Q86V48	LUZP1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;4.88e-27)|Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;4.31e-06)|GBM - Glioblastoma multiforme(114;8.64e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00112)|KIRC - Kidney renal clear cell carcinoma(1967;0.00176)|STAD - Stomach adenocarcinoma(196;0.0146)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.0967)|LUSC - Lung squamous cell carcinoma(448;0.199)	4	1582	-		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Ovarian(437;0.00373)|Breast(348;0.00815)|Myeloproliferative disorder(586;0.0255)	261					Q5TH93|Q8N4X3|Q8TEH1	Missense_Mutation	SNP	ENST00000302291.4	37	c.781C>A	CCDS30628.1	.	.	.	.	.	.	.	.	.	.	G	15.22	2.767967	0.49680	.	.	ENSG00000169641	ENST00000418342;ENST00000374623;ENST00000302291;ENST00000314174;ENST00000471849	T;T;T;T;T	0.57107	1.94;1.94;1.94;1.86;0.42	6.17	5.26	0.73747	.	0.000000	0.37437	N	0.002093	T	0.64382	0.2593	L	0.60455	1.87	0.38886	D	0.957015	D;D	0.76494	0.999;0.999	D;D	0.76071	0.987;0.987	T	0.66767	-0.5840	10	0.59425	D	0.04	.	7.5241	0.27645	0.1446:0.1489:0.7065:0.0	.	261;261	Q86V48-2;Q86V48	.;LUZP1_HUMAN	M	261	ENSP00000393460:L261M;ENSP00000363752:L261M;ENSP00000303758:L261M;ENSP00000313705:L261M;ENSP00000428061:L261M	ENSP00000303758:L261M	L	-	1	2	LUZP1	23292561	1.000000	0.71417	0.973000	0.42090	0.664000	0.39144	3.340000	0.52143	2.941000	0.99782	0.655000	0.94253	CTG		0.408	LUZP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008900.3	NM_033631		19	38	1	0	7.41877e-09	1	7.76872e-09	19	38					T	23419974	G	T	23419974	3	4	360	1	0	0	0	0	1	0	0	0	9086	933	33	5	2457	5	LUZP1	1	23419974	Missense_Mutation	SNP	G	TCGA-QU-A6IM-01A-11D-A31L-08	5505883	23419974	225830647	2	17971											
TMEM57	55219	broad.mit.edu	37	chr1	25810628	25810628	+	Frame_Shift_Del	DEL	G	G	-																															ctggaacaagacattaaaaaGttaaaggctgacctgcaagc																										TCGA-QU-A6IM-01A-11D-A31L-08	TCGA-QU-A6IM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c46bdf0-625f-4d00-ae75-b9e83d2fe3ea	84da4992-73f8-4179-bc14-13735496a930	g.chr1:25810628delG	ENST00000374343.4	+	7	1355	c.1176delG	c.(1174-1176)aagfs	p.K392fs	TMEM57_ENST00000399766.3_Frame_Shift_Del_p.K165fs|TMEM57_ENST00000399763.3_Frame_Shift_Del_p.K34fs	NM_018202.4	NP_060672.2	Q8N5G2	MACOI_HUMAN	transmembrane protein 57	392					brain development (GO:0007420)	axon (GO:0030424)|integral component of membrane (GO:0016021)|neuron projection terminus (GO:0044306)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|synapse (GO:0045202)				breast(3)|endometrium(2)|kidney(2)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	27		Colorectal(325;0.000147)|Renal(390;0.00211)|Lung NSC(340;0.00715)|all_lung(284;0.00989)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0675)|all_neural(195;0.201)		UCEC - Uterine corpus endometrioid carcinoma (279;0.042)|OV - Ovarian serous cystadenocarcinoma(117;1.85e-26)|Colorectal(126;2.99e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|STAD - Stomach adenocarcinoma(196;0.000766)|BRCA - Breast invasive adenocarcinoma(304;0.000986)|GBM - Glioblastoma multiforme(114;0.0191)|READ - Rectum adenocarcinoma(331;0.0649)		ACATTAAAAAGTTAAAGGCTG	0.542																																						ENST00000374343.4																			0				breast(3)|endometrium(2)|kidney(2)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	27						c.(1174-1176)aafs		transmembrane protein 57							64	69	68					1																	25810628		2203	4300	6503	SO:0001589	frameshift_variant	55219					axon|integral to membrane|neuron projection terminus|nuclear membrane|synapse part		g.chr1:25810628delG	AK001609	CCDS30638.1, CCDS60034.1	1p36.11	2008-02-05			ENSG00000204178	ENSG00000204178			25572	protein-coding gene	gene with protein product		610301				12459264, 15255972	Standard	XM_005245931		Approved	FLJ10747	uc001bkk.3	Q8N5G2	OTTHUMG00000003473	ENST00000374343.4:c.1176delG	1.37:g.25810628delG	ENSP00000363463:p.Lys392fs					TMEM57_ENST00000399763.3_Frame_Shift_Del_p.K34fs|TMEM57_ENST00000399766.3_Frame_Shift_Del_p.K165fs	p.K392fs	NM_018202.4	NP_060672.2	Q8N5G2	MACOI_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.042)|OV - Ovarian serous cystadenocarcinoma(117;1.85e-26)|Colorectal(126;2.99e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|STAD - Stomach adenocarcinoma(196;0.000766)|BRCA - Breast invasive adenocarcinoma(304;0.000986)|GBM - Glioblastoma multiforme(114;0.0191)|READ - Rectum adenocarcinoma(331;0.0649)	7	1355	+		Colorectal(325;0.000147)|Renal(390;0.00211)|Lung NSC(340;0.00715)|all_lung(284;0.00989)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0675)|all_neural(195;0.201)	392					B1AK00|Q2TLX5|Q2TLX6|Q9NVG6	Frame_Shift_Del	DEL	ENST00000374343.4	37	c.1176delG	CCDS30638.1																																																																																				0.542	TMEM57-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009659.2	NM_018202		9	142						9	142	---	---	---	---	-	25810628	G	-	25810628	7	5	360	1	0	1	0	1	0	0	0	0	16181	1020	36	0	1202	0	TMEM57	1	25810628	Frame_Shift_Del	DEL	G	TCGA-QU-A6IM-01A-11D-A31L-08	2390654	25810628	223439993	3	17972											
INPP5B	3633	broad.mit.edu	37	chr1	38338661	38338661	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctctctcatgtaacacagtgTatgaatgggagacccaaaac	14	9	8	10	0	2	2	1	1	1	1	3	3	2	2	1	1	2	2	1	1	5	2			TCGA-QU-A6IM-01A-11D-A31L-08	TCGA-QU-A6IM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c46bdf0-625f-4d00-ae75-b9e83d2fe3ea	84da4992-73f8-4179-bc14-13735496a930	g.chr1:38338661T>C	ENST00000373026.1	-	18	2368	c.2368A>G	c.(2368-2370)Aca>Gca	p.T790A	INPP5B_ENST00000373024.3_Missense_Mutation_p.T710A|INPP5B_ENST00000373023.2_Missense_Mutation_p.T790A|INPP5B_ENST00000373027.1_Missense_Mutation_p.T546A			P32019	I5P2_HUMAN	inositol polyphosphate-5-phosphatase, 75kDa	790					in utero embryonic development (GO:0001701)|inositol phosphate metabolic process (GO:0043647)|phosphatidylinositol dephosphorylation (GO:0046856)|regulation of protein processing (GO:0070613)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|plasma membrane (GO:0005886)	inositol-1,4,5-trisphosphate 5-phosphatase activity (GO:0052658)|metal ion binding (GO:0046872)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)			breast(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(9)|urinary_tract(1)	15	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				TAACACAGTGTATGAATGGGA	0.443																																						ENST00000373023.2																			0				breast(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(9)|urinary_tract(1)	15						c.(2368-2370)Aca>Gca		inositol polyphosphate-5-phosphatase, 75kDa							145	139	141					1																	38338661		1903	4131	6034	SO:0001583	missense	3633				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|integral to membrane|microtubule cytoskeleton	GTPase activator activity|inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|protein binding	g.chr1:38338661T>C	M74161	CCDS41306.1, CCDS72760.1	1p34	2008-02-05	2002-08-29		ENSG00000204084	ENSG00000204084	3.1.3.56		6077	protein-coding gene	gene with protein product		147264	"inositol polyphosphate-5-phosphatase, 75kD"			1718960	Standard	NM_005540		Approved		uc001ccg.1	P32019	OTTHUMG00000004436	ENST00000373026.1:c.2368A>G	1.37:g.38338661T>C	ENSP00000362117:p.Thr790Ala					INPP5B_ENST00000373027.1_Missense_Mutation_p.T546A|INPP5B_ENST00000373024.3_Missense_Mutation_p.T710A|INPP5B_ENST00000373026.1_Missense_Mutation_p.T790A	p.T790A	NM_005540.2	NP_005531.2	P32019	I5P2_HUMAN			19	2461	-	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)	790					C9J6U5|Q5VSG9|Q5VSH0|Q5VSH1|Q658Q5|Q6P6D4|Q6PD53|Q86YE1	Missense_Mutation	SNP	ENST00000373026.1	37	c.2368A>G		.	.	.	.	.	.	.	.	.	.	T	9.301	1.053193	0.19907	.	.	ENSG00000204084	ENST00000373027;ENST00000373023;ENST00000373029;ENST00000373026;ENST00000373024	T;T;T;T	0.15952	2.38;2.38;2.38;2.38	5.95	5.95	0.96441	Rho GTPase-activating protein domain (1);	0.308066	0.40144	N	0.001179	T	0.10337	0.0253	N	0.20986	0.625	0.54753	D	0.999981	B;B	0.22909	0.077;0.022	B;B	0.20955	0.032;0.007	T	0.08534	-1.0717	10	0.06236	T	0.91	.	11.4545	0.50173	0.0:0.0696:0.0:0.9304	.	790;710	P32019;P32019-2	I5P2_HUMAN;.	A	546;790;790;790;710	ENSP00000362118:T546A;ENSP00000362114:T790A;ENSP00000362117:T790A;ENSP00000362115:T710A	ENSP00000362114:T790A	T	-	1	0	INPP5B	38111248	0.484000	0.25964	0.992000	0.48379	0.976000	0.68499	0.697000	0.25556	2.281000	0.76405	0.523000	0.50628	ACA		0.443	INPP5B-003	KNOWN	non_canonical_conserved|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000012968.1	NM_005540		9	38	0	0	0	1	0	9	38					C	38338661	T	C	38338661	3	2	360	1	0	0	0	0	1	0	0	0	7755	1638	57	4	637	4	INPP5B	1	38338661	Missense_Mutation	SNP	T	TCGA-QU-A6IM-01A-11D-A31L-08	12528033	38338661	210911960	4	17973											
PPIAL4G	644591	broad.mit.edu	37	chr1	143767776	143767776	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctttggaatcttgtctgcaaActgtttgatggagatgcggc	8	14	12	7	1	2	2	0	1	2	1	2	4	2	3	0	3	3	2	0	3	2	3			TCGA-QU-A6IM-01A-11D-A31L-08	TCGA-QU-A6IM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c46bdf0-625f-4d00-ae75-b9e83d2fe3ea	84da4992-73f8-4179-bc14-13735496a930	g.chr1:143767776A>C	ENST00000419275.1	-	1	105	c.73T>G	c.(73-75)Ttt>Gtt	p.F25V		NM_001123068.1	NP_001116540.1	A2BFH1	PAL4G_HUMAN	peptidylprolyl isomerase A (cyclophilin A)-like 4G	25	PPIase cyclophilin-type. {ECO:0000255|PROSITE-ProRule:PRU00156}.				protein folding (GO:0006457)	cytoplasm (GO:0005737)	peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			breast(1)|endometrium(2)|kidney(1)|lung(8)|ovary(1)|skin(1)	14						TTGTCTGCAAACTGTTTGATG	0.478																																						ENST00000419275.1																			0				breast(1)|endometrium(2)|kidney(1)|lung(8)|ovary(1)|skin(1)	14						c.(73-75)Ttt>Gtt		peptidylprolyl isomerase A (cyclophilin A)-like 4G							156	145	148					1																	143767776		1568	3579	5147	SO:0001583	missense	644591				protein folding	cytoplasm	peptidyl-prolyl cis-trans isomerase activity	g.chr1:143767776A>C		CCDS41375.1, CCDS41375.2	1q21.1	2010-06-03			ENSG00000236334	ENSG00000236334			33996	protein-coding gene	gene with protein product							Standard	NM_001123068		Approved		uc001ejt.3	A2BFH1	OTTHUMG00000013629	ENST00000419275.1:c.73T>G	1.37:g.143767776A>C	ENSP00000393845:p.Phe25Val						p.F25V	NM_001123068.1	NP_001116540.1	A2BFH1	PAL4G_HUMAN			1	105	-			25			PPIase cyclophilin-type.		A1L431	Missense_Mutation	SNP	ENST00000419275.1	37	c.73T>G	CCDS41375.1	.	.	.	.	.	.	.	.	.	.	.	15.18	2.756297	0.49362	.	.	ENSG00000236334	ENST00000419275	T	0.50277	0.75	0.523	0.523	0.17060	Peptidyl-prolyl cis-trans isomerase, cyclophilin-type (4);Cyclophilin-like (1);	0.393254	0.25299	U	0.031665	T	0.53850	0.1822	H	0.97077	3.935	0.22933	N	0.998546	P	0.46020	0.871	P	0.50270	0.636	T	0.51537	-0.8693	9	0.59425	D	0.04	.	.	.	.	.	25	A2BFH1	PAL4G_HUMAN	V	25	ENSP00000393845:F25V	ENSP00000393845:F25V	F	-	1	0	PPIAL4G	142559299	0.998000	0.40836	0.688000	0.30117	0.297000	0.27493	2.087000	0.41653	0.493000	0.27837	0.331000	0.21540	TTT		0.478	PPIAL4G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000037969.1	NM_001123068		81	245	0	0	0	1	0	81	245					C	143767776	A	C	143767776	3	2	360	1	0	0	0	0	1	0	0	0	12318	43	2	5	425	5	PPIAL4G	1	143767776	Missense_Mutation	SNP	A	TCGA-QU-A6IM-01A-11D-A31L-08	105429115	143767776	105482845	5	17974											
GJA5	2702	broad.mit.edu	37	chr1	147230980	147230980	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctctgccaccgggtactcgtAagagccagagccccggacct	8	6	11	16	3	1	2	0	0	1	2	2	3	1	3	6	2	4	2	6	2	2	2			TCGA-QU-A6IM-01A-11D-A31L-08	TCGA-QU-A6IM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c46bdf0-625f-4d00-ae75-b9e83d2fe3ea	84da4992-73f8-4179-bc14-13735496a930	g.chr1:147230980A>T	ENST00000271348.2	-	2	528	c.367T>A	c.(367-369)Tac>Aac	p.Y123N	RP11-433J22.2_ENST00000428911.1_RNA|GJA5_ENST00000369237.1_Missense_Mutation_p.Y123N	NM_005266.5	NP_005257.2	P36382	CXA5_HUMAN	gap junction protein, alpha 5, 40kDa	123					angiogenesis (GO:0001525)|artery morphogenesis (GO:0048844)|atrial cardiac muscle cell action potential (GO:0086014)|atrial septum development (GO:0003283)|AV node cell to bundle of His cell communication by electrical coupling (GO:0086053)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|gap junction assembly (GO:0016264)|mitral valve development (GO:0003174)|outflow tract morphogenesis (GO:0003151)|pulmonary valve formation (GO:0003193)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of cardiac muscle contraction (GO:0055117)|transmembrane transport (GO:0055085)|ventricular septum development (GO:0003281)	connexon complex (GO:0005922)|gap junction (GO:0005921)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)	gap junction channel activity involved in AV node cell-bundle of His cell electrical coupling (GO:0086077)|gap junction channel activity involved in cardiac conduction electrical coupling (GO:0086075)|gap junction hemi-channel activity (GO:0055077)			breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	20	all_hematologic(923;0.0276)		LUSC - Lung squamous cell carcinoma(543;0.202)			GGGTACTCGTAAGAGCCAGAG	0.607																																						ENST00000271348.2																			0				breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	20						c.(367-369)Tac>Aac		gap junction protein, alpha 5, 40kDa							67	66	67					1																	147230980		2203	4300	6503	SO:0001583	missense	2702				angiogenesis|cell-cell junction assembly|muscle contraction	integral to membrane		g.chr1:147230980A>T		CCDS929.1	1q21.1	2008-02-05	2007-01-16		ENSG00000143140	ENSG00000265107		"Ion channels / Gap junction proteins (connexins)"	4279	protein-coding gene	gene with protein product	"connexin 40"	121013	"gap junction protein, alpha 5, 40kD (connexin 40)", "gap junction protein, alpha 5, 40kDa (connexin 40)"				Standard	NM_005266		Approved	CX40	uc001eps.1	P36382	OTTHUMG00000014020	ENST00000271348.2:c.367T>A	1.37:g.147230980A>T	ENSP00000271348:p.Tyr123Asn					GJA5_ENST00000369237.1_Missense_Mutation_p.Y123N	p.Y123N	NM_005266.5|NM_181703.2	NP_005257.2|NP_859054.1	P36382	CXA5_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.202)		2	528	-	all_hematologic(923;0.0276)		123					Q5T3B6|Q5U0N6	Missense_Mutation	SNP	ENST00000271348.2	37	c.367T>A	CCDS929.1	.	.	.	.	.	.	.	.	.	.	A	0.800	-0.755805	0.03019	.	.	ENSG00000143140	ENST00000271348;ENST00000369237;ENST00000430508	D;D;D	0.97378	-4.29;-4.29;-4.36	5.15	2.8	0.32819	.	3.422580	0.00575	N	0.000313	D	0.91888	0.7432	M	0.68317	2.08	0.09310	N	1	P	0.37955	0.612	B	0.36335	0.222	D	0.83588	0.0121	10	0.18276	T	0.48	.	7.8421	0.29403	0.7897:0.1385:0.0718:0.0	.	123	P36382	CXA5_HUMAN	N	123	ENSP00000271348:Y123N;ENSP00000358240:Y123N;ENSP00000407645:Y123N	ENSP00000271348:Y123N	Y	-	1	0	GJA5	145697604	0.837000	0.29446	0.000000	0.03702	0.039000	0.13416	3.565000	0.53798	0.410000	0.25675	0.460000	0.39030	TAC		0.607	GJA5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039422.2	NM_181703		27	88	0	0	0	1	0	27	88					T	147230980	A	T	147230980	3	4	360	1	0	0	0	0	1	0	0	0	6404	362	13	5	713	5	GJA5	1	147230980	Missense_Mutation	SNP	A	TCGA-QU-A6IM-01A-11D-A31L-08	3463204	147230980	102019641	6	17975											
SLAMF6	114836	broad.mit.edu	37	chr1	160466070	160466070	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agatgtttcattgaaaagccAagtgatgaagttgaccttct	13	13	9	6	0	2	5	1	4	1	1	2	5	2	5	2	0	1	2	2	0	4	4			TCGA-QU-A6IM-01A-11D-A31L-08	TCGA-QU-A6IM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c46bdf0-625f-4d00-ae75-b9e83d2fe3ea	84da4992-73f8-4179-bc14-13735496a930	g.chr1:160466070A>T	ENST00000368057.3	-	2	223	c.163T>A	c.(163-165)Tgg>Agg	p.W55R	SLAMF6_ENST00000368055.1_Intron|SLAMF6_ENST00000368059.3_Missense_Mutation_p.W55R			Q96DU3	SLAF6_HUMAN	SLAM family member 6	55	Ig-like V-type.					extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|skin(4)	22	all_cancers(52;1.05e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0923)			TTGAAAAGCCAAGTGATGAAG	0.463																																						ENST00000368059.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|skin(4)	22						c.(163-165)Tgg>Agg		SLAM family member 6							252	235	241					1																	160466070		2203	4300	6503	SO:0001583	missense	114836					integral to membrane|plasma membrane	receptor activity	g.chr1:160466070A>T	AL832854	CCDS1205.1, CCDS53393.1, CCDS53394.1	1q23.1	2013-01-29			ENSG00000162739	ENSG00000162739		"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	21392	protein-coding gene	gene with protein product		606446				11489943	Standard	NM_052931		Approved	KALI, NTBA, KALIb, Ly108, SF2000, NTB-A, CD352	uc001fwe.2	Q96DU3	OTTHUMG00000022729	ENST00000368057.3:c.163T>A	1.37:g.160466070A>T	ENSP00000357036:p.Trp55Arg					SLAMF6_ENST00000368057.3_Missense_Mutation_p.W55R|SLAMF6_ENST00000368055.1_Intron	p.W55R	NM_001184714.1|NM_001184715.1|NM_001184716.1|NM_052931.4	NP_001171643.1|NP_001171644.1|NP_001171645.1|NP_443163.1	Q96DU3	SLAF6_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.0923)		2	232	-	all_cancers(52;1.05e-18)|all_hematologic(112;0.093)		55					A6NMW2|B2R8X8|Q14CF0|Q5TAS4|Q5TAS6|Q5TAT3|Q96DV0	Missense_Mutation	SNP	ENST00000368057.3	37	c.163T>A	CCDS53394.1	.	.	.	.	.	.	.	.	.	.	A	15.21	2.765625	0.49574	.	.	ENSG00000162739	ENST00000368059;ENST00000368057	D;D	0.84370	-1.84;-1.84	4.95	3.8	0.43715	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.90803	0.7112	M	0.93420	3.415	0.27400	N	0.954878	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.85460	0.1166	10	0.72032	D	0.01	-13.98	8.5733	0.33583	0.8048:0.1952:0.0:0.0	.	55;55	Q96DU3;B2R8X8	SLAF6_HUMAN;.	R	55	ENSP00000357038:W55R;ENSP00000357036:W55R	ENSP00000357036:W55R	W	-	1	0	SLAMF6	158732694	0.941000	0.31946	0.127000	0.21898	0.044000	0.14063	2.799000	0.47892	0.888000	0.36160	0.533000	0.62120	TGG		0.463	SLAMF6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059010.1	NM_052931		59	168	0	0	0	1	0	59	168					T	160466070	A	T	160466070	3	4	360	1	0	0	0	0	1	0	0	0	14368	130	5	5	863	5	SLAMF6	1	160466070	Missense_Mutation	SNP	A	TCGA-QU-A6IM-01A-11D-A31L-08	13235090	160466070	88784551	7	17976											
NCF2	4688	broad.mit.edu	37	chr1	183539961	183539961	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaaactgtcttgatccaccAcagatgccacgacctaaaat	15	8	6	12	1	1	3	0	1	1	2	2	4	2	3	4	0	2	0	4	0	3	2			TCGA-QU-A6IM-01A-11D-A31L-08	TCGA-QU-A6IM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c46bdf0-625f-4d00-ae75-b9e83d2fe3ea	84da4992-73f8-4179-bc14-13735496a930	g.chr1:183539961A>T	ENST00000367535.3	-	6	874	c.623T>A	c.(622-624)gTg>gAg	p.V208E	NCF2_ENST00000413720.1_Missense_Mutation_p.V163E|NCF2_ENST00000418089.1_Missense_Mutation_p.V127E|NCF2_ENST00000367536.1_Missense_Mutation_p.V208E	NM_000433.3	NP_000424.2	P19878	NCF2_HUMAN	neutrophil cytosolic factor 2	208					aging (GO:0007568)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular defense response (GO:0006968)|cellular response to hormone stimulus (GO:0032870)|innate immune response (GO:0045087)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|positive regulation of blood pressure (GO:0045777)|positive regulation of neuron apoptotic process (GO:0043525)|respiratory burst (GO:0045730)|response to activity (GO:0014823)|response to drug (GO:0042493)|response to glucose (GO:0009749)|response to hyperoxia (GO:0055093)|response to laminar fluid shear stress (GO:0034616)|response to lipopolysaccharide (GO:0032496)|response to progesterone (GO:0032570)|superoxide anion generation (GO:0042554)|superoxide metabolic process (GO:0006801)	acrosomal vesicle (GO:0001669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|NADPH oxidase complex (GO:0043020)|nucleolus (GO:0005730)|phagolysosome (GO:0032010)	electron carrier activity (GO:0009055)|protein C-terminus binding (GO:0008022)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30					Dextromethorphan(DB00514)	TTGATCCACCACAGATGCCAC	0.532																																						ENST00000413720.1																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30						c.(487-489)gTg>gAg		neutrophil cytosolic factor 2							166	137	147					1																	183539961		2203	4300	6503	SO:0001583	missense	4688				cellular defense response|innate immune response|respiratory burst|superoxide anion generation	NADPH oxidase complex|nucleolus	electron carrier activity|protein C-terminus binding	g.chr1:183539961A>T	BC001606	CCDS1356.1, CCDS53446.1, CCDS53447.1	1q25	2014-09-17	2008-07-31		ENSG00000116701	ENSG00000116701		"Tetratricopeptide (TTC) repeat domain containing"	7661	protein-coding gene	gene with protein product	"NADPH oxidase activator 2", "chronic granulomatous disease, autosomal 2"	608515	"neutrophil cytosolic factor 2 (65kD, chronic granulomatous disease, autosomal 2)"				Standard	NM_000433		Approved	p67phox, NOXA2	uc001gqk.4	P19878	OTTHUMG00000035329	ENST00000367535.3:c.623T>A	1.37:g.183539961A>T	ENSP00000356505:p.Val208Glu					NCF2_ENST00000418089.1_Missense_Mutation_p.V127E|NCF2_ENST00000367536.1_Missense_Mutation_p.V208E|NCF2_ENST00000367535.3_Missense_Mutation_p.V208E	p.V163E	NM_001190794.1	NP_001177723.1	P19878	NCF2_HUMAN			5	762	-			208					B2R6Q1|B4DKQ7|B4DQA7|E9PHJ2|E9PHX3|Q2PP06|Q8NFC7|Q9BV51	Missense_Mutation	SNP	ENST00000367535.3	37	c.488T>A	CCDS1356.1	.	.	.	.	.	.	.	.	.	.	A	17.17	3.321292	0.60634	.	.	ENSG00000116701	ENST00000367536;ENST00000392014;ENST00000413720;ENST00000418089;ENST00000367535	T;T;T;T	0.67865	-0.2;-0.28;-0.29;-0.2	5.19	5.19	0.71726	.	0.113510	0.64402	D	0.000014	T	0.81791	0.4897	M	0.79475	2.455	0.80722	D	1	D;D;D	0.76494	0.998;0.999;0.997	D;D;D	0.85130	0.93;0.997;0.915	D	0.84438	0.0581	10	0.72032	D	0.01	-10.5822	15.0845	0.72142	1.0:0.0:0.0:0.0	.	127;163;208	E9PHJ2;E9PHX3;P19878	.;.;NCF2_HUMAN	E	208;236;163;127;208	ENSP00000356506:V208E;ENSP00000399294:V163E;ENSP00000407217:V127E;ENSP00000356505:V208E	ENSP00000356505:V208E	V	-	2	0	NCF2	181806584	1.000000	0.71417	0.996000	0.52242	0.250000	0.25880	7.875000	0.87205	1.954000	0.56735	0.533000	0.62120	GTG		0.532	NCF2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085483.1	NM_000433		21	41	0	0	0	1	0	21	41					T	183539961	A	T	183539961	3	4	360	1	0	0	0	0	1	0	0	0	10217	159	6	5	997	5	NCF2	1	183539961	Missense_Mutation	SNP	A	TCGA-QU-A6IM-01A-11D-A31L-08	23073891	183539961	65710660	8	17977											
HMCN1	83872	broad.mit.edu	37	chr1	186099650	186099650	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gttttccagaacctccagtcTtcaaaggtgattatccttct	9	15	6	11	0	3	2	1	1	2	1	6	2	6	2	4	1	1	1	4	1	3	5			TCGA-QU-A6IM-01A-11D-A31L-08	TCGA-QU-A6IM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c46bdf0-625f-4d00-ae75-b9e83d2fe3ea	84da4992-73f8-4179-bc14-13735496a930	g.chr1:186099650T>C	ENST00000271588.4	+	85	13280	c.13051T>C	c.(13051-13053)Ttc>Ctc	p.F4351L	HMCN1_ENST00000367492.2_Missense_Mutation_p.F4351L	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	4351	Ig-like C2-type 43.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						ACCTCCAGTCTTCAAAGGTGA	0.393																																						ENST00000271588.4																			0				NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						c.(13051-13053)Ttc>Ctc		hemicentin 1							69	68	69					1																	186099650		2203	4299	6502	SO:0001583	missense	83872				response to stimulus|visual perception	basement membrane	calcium ion binding	g.chr1:186099650T>C	AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"Fibulins", "Immunoglobulin superfamily / I-set domain containing"	19194	protein-coding gene	gene with protein product	"fibulin 6"	608548	"age-related macular degeneration 1 (senile macular degeneration)"	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.13051T>C	1.37:g.186099650T>C	ENSP00000271588:p.Phe4351Leu					HMCN1_ENST00000367492.2_Missense_Mutation_p.F4351L	p.F4351L	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN			85	13280	+			4351			Ig-like C2-type 43.		A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Missense_Mutation	SNP	ENST00000271588.4	37	c.13051T>C	CCDS30956.1	.	.	.	.	.	.	.	.	.	.	T	15.75	2.924325	0.52653	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	T;T	0.73575	1.44;-0.76	5.58	5.58	0.84498	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.092657	0.85682	D	0.000000	T	0.71375	0.3332	N	0.11789	0.175	0.38385	D	0.945231	D	0.56287	0.975	D	0.66196	0.942	T	0.73600	-0.3931	10	0.35671	T	0.21	.	10.4083	0.44278	0.0:0.0731:0.0:0.9269	.	4351	Q96RW7	HMCN1_HUMAN	L	4351	ENSP00000271588:F4351L;ENSP00000356462:F4351L	ENSP00000271588:F4351L	F	+	1	0	HMCN1	184366273	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	4.974000	0.63771	2.250000	0.74265	0.482000	0.46254	TTC		0.393	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935		20	57	0	0	0	1	0	20	57					C	186099650	T	C	186099650	3	2	360	1	0	0	0	0	1	0	0	0	7220	1609	56	4	13389	4	HMCN1	1	186099650	Missense_Mutation	SNP	T	TCGA-QU-A6IM-01A-11D-A31L-08	2559689	186099650	63150971	9	17978											
SLC41A1	254428	broad.mit.edu	37	chr1	205768182	205768182	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatcagggatccagccaaaGacgacggctgcgatggacgc	11	4	13	13	4	1	1	1	0	0	1	2	5	2	3	3	3	2	1	3	3	1	0			TCGA-QU-A6IM-01A-11D-A31L-08	TCGA-QU-A6IM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c46bdf0-625f-4d00-ae75-b9e83d2fe3ea	84da4992-73f8-4179-bc14-13735496a930	g.chr1:205768182G>T	ENST00000367137.3	-	5	1614	c.600C>A	c.(598-600)gtC>gtA	p.V200V	SLC41A1_ENST00000468057.1_5'UTR	NM_173854.4	NP_776253.3	Q8IVJ1	S41A1_HUMAN	solute carrier family 41 (magnesium transporter), member 1	200					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cation transmembrane transporter activity (GO:0008324)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	17	Breast(84;0.0799)		BRCA - Breast invasive adenocarcinoma(75;0.0252)			TCCAGCCAAAGACGACGGCTG	0.607																																						ENST00000367137.3																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	17						c.(598-600)gtC>gtA		solute carrier family 41 (magnesium transporter), member 1							65	63	64					1																	205768182		2203	4300	6503	SO:0001819	synonymous_variant	254428					integral to membrane|plasma membrane	magnesium ion transmembrane transporter activity	g.chr1:205768182G>T	AJ514402	CCDS30988.1	1q32.1	2013-07-17	2013-07-17		ENSG00000133065	ENSG00000133065		"Solute carriers"	19429	protein-coding gene	gene with protein product		610801				12810078, 18367447	Standard	NM_173854		Approved	MgtE	uc001hdh.1	Q8IVJ1	OTTHUMG00000036000	ENST00000367137.3:c.600C>A	1.37:g.205768182G>T						SLC41A1_ENST00000468057.1_5'UTR	p.V200V	NM_173854.4	NP_776253.3	Q8IVJ1	S41A1_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.0252)		5	1614	-	Breast(84;0.0799)		200					Q63HJ4|Q658Z5|Q659A4|Q6MZK2	Silent	SNP	ENST00000367137.3	37	c.600C>A	CCDS30988.1																																																																																				0.607	SLC41A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087731.1			19	55	1	0	4.35082e-09	1	4.64366e-09	19	55					T	205768182	G	T	205768182	2	4	360	1	0	0	0	0	0	0	0	1	14629	929	33	5		5	SLC41A1	1	205768182	Silent	SNP	G	TCGA-QU-A6IM-01A-11D-A31L-08	19668532	205768182	43482439	10	17979											
USH2A	7399	broad.mit.edu	37	chr1	216246269	216246269	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctcgactccaatcactatatActgaacctccttcatgcgag	11	11	5	14	2	2	1	2	1	0	0	5	3	4	1	3	0	3	0	3	0	5	4			TCGA-QU-A6IM-01A-11D-A31L-08	TCGA-QU-A6IM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c46bdf0-625f-4d00-ae75-b9e83d2fe3ea	84da4992-73f8-4179-bc14-13735496a930	g.chr1:216246269A>G	ENST00000307340.3	-	29	6205	c.5819T>C	c.(5818-5820)gTa>gCa	p.V1940A	RP11-22M7.2_ENST00000446411.1_RNA|RP11-22M7.2_ENST00000430890.1_RNA|RP11-22M7.2_ENST00000445619.1_RNA|USH2A_ENST00000366943.2_Missense_Mutation_p.V1940A	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	1940	Fibronectin type-III 5. {ECO:0000255|PROSITE-ProRule:PRU00316}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		ATCACTATATACTGAACCTCC	0.368										HNSCC(13;0.011)																												ENST00000366943.2																			0				NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527						c.(5818-5820)gTa>gCa		Usher syndrome 2A (autosomal recessive, mild)							148	126	134					1																	216246269		2203	4300	6503	SO:0001583	missense	7399				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	g.chr1:216246269A>G	AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"Fibronectin type III domain containing"	12601	protein-coding gene	gene with protein product	"usherin"	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.5819T>C	1.37:g.216246269A>G	ENSP00000305941:p.Val1940Ala	HNSCC(13;0.011)				RP11-22M7.2_ENST00000445619.1_RNA|RP11-22M7.2_ENST00000430890.1_RNA|USH2A_ENST00000307340.3_Missense_Mutation_p.V1940A|RP11-22M7.2_ENST00000446411.1_RNA	p.V1940A			O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	29	6205	-			1940			Fibronectin type-III 5.		Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	c.5819T>C	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	A	14.42	2.529334	0.44969	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	T;T	0.38722	1.12;1.12	6.02	3.32	0.38043	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.185229	0.25845	N	0.027940	T	0.20088	0.0483	N	0.20401	0.57	0.09310	N	1	B	0.12630	0.006	B	0.09377	0.004	T	0.20940	-1.0260	10	0.07644	T	0.81	.	4.5599	0.12154	0.6813:0.1253:0.0725:0.121	.	1940	O75445	USH2A_HUMAN	A	1940	ENSP00000305941:V1940A;ENSP00000355910:V1940A	ENSP00000305941:V1940A	V	-	2	0	USH2A	214312892	0.015000	0.18098	0.034000	0.17996	0.916000	0.54674	1.804000	0.38873	1.044000	0.40200	0.528000	0.53228	GTA		0.368	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		25	60	0	0	0	1	0	25	60					G	216246269	A	G	216246269	3	3	360	1	0	0	0	0	1	0	0	0	17033	391	14	4	9965	4	USH2A	1	216246269	Missense_Mutation	SNP	A	TCGA-QU-A6IM-01A-11D-A31L-08	10478087	216246269	33004352	11	17980											
BCL11A	53335	broad.mit.edu	37	chr2	60687905	60687905	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctccctccacttcccgtgccGctgcgccccgagatccctcc	3	8	7	23	4	0	1	0	0	0	1	5	2	5	1	8	0	2	1	8	0	0	1			TCGA-QU-A6IM-01A-11D-A31L-08	TCGA-QU-A6IM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c46bdf0-625f-4d00-ae75-b9e83d2fe3ea	84da4992-73f8-4179-bc14-13735496a930	g.chr2:60687905G>A	ENST00000335712.6	-	4	2369	c.2142C>T	c.(2140-2142)agC>agT	p.S714S	BCL11A_ENST00000538214.1_Silent_p.S680S|BCL11A_ENST00000356842.4_Silent_p.S714S|BCL11A_ENST00000537768.1_Silent_p.S383S|BCL11A_ENST00000477659.1_5'UTR|BCL11A_ENST00000359629.5_Intron|BCL11A_ENST00000358510.4_Silent_p.S680S	NM_022893.3	NP_075044.2	Q9H165	BC11A_HUMAN	B-cell CLL/lymphoma 11A (zinc finger protein)	714					B cell differentiation (GO:0030183)|negative regulation of axon extension (GO:0030517)|negative regulation of collateral sprouting (GO:0048671)|negative regulation of dendrite development (GO:2000171)|negative regulation of neuron projection development (GO:0010977)|negative regulation of protein homooligomerization (GO:0032463)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of collateral sprouting (GO:0048672)|positive regulation of neuron projection development (GO:0010976)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein sumoylation (GO:0016925)|regulation of dendrite development (GO:0050773)|T cell differentiation (GO:0030217)	cytoplasm (GO:0005737)|nuclear body (GO:0016604)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|transcription corepressor activity (GO:0003714)			NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	59			LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)			TTCCCGTGCCGCTGCGCCCCG	0.652			T	IGH@	B-CLL																																	ENST00000335712.6				Dom	yes		2	2p13	53335	T	B-cell CLL/lymphoma 11A			L	IGH@		B-CLL		0				NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	59						c.(2140-2142)agC>agT		B-cell CLL/lymphoma 11A (zinc finger protein)							41	47	45					2																	60687905		2203	4300	6503	SO:0001819	synonymous_variant	53335				negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding	g.chr2:60687905G>A	AJ404611	CCDS1861.1, CCDS1862.1, CCDS46295.1	2p16.1	2013-01-08	2002-05-08		ENSG00000119866	ENSG00000119866		"Zinc fingers, C2H2-type"	13221	protein-coding gene	gene with protein product		606557	"ecotropic viral integration site 9"	EVI9		11719382, 18245381	Standard	NM_018014		Approved	BCL11A-XL, BCL11A-L, BCL11A-S, CTIP1, HBFQTL5, ZNF856	uc002sae.1	Q9H165	OTTHUMG00000129420	ENST00000335712.6:c.2142C>T	2.37:g.60687905G>A						BCL11A_ENST00000477659.1_5'UTR|BCL11A_ENST00000538214.1_Silent_p.S680S|BCL11A_ENST00000537768.1_Silent_p.S383S|BCL11A_ENST00000359629.5_Intron|BCL11A_ENST00000358510.4_Silent_p.S680S|BCL11A_ENST00000356842.4_Silent_p.S714S	p.S714S	NM_022893.3	NP_075044.2	Q9H165	BC11A_HUMAN	LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)		4	2369	-			714					D6W5D7|Q86W14|Q8WU92|Q96JL6|Q9H163|Q9H164|Q9H3G9|Q9NWA7	Silent	SNP	ENST00000335712.6	37	c.2142C>T	CCDS1862.1																																																																																				0.652	BCL11A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251579.2	NM_022893		6	98	0	0	0	1	0	6	98					A	60687905	G	A	60687905	2	1	360	1	0	0	0	0	0	0	0	1	1363	1078	38	1		1	BCL11A	2	60687905	Silent	SNP	G	TCGA-QU-A6IM-01A-11D-A31L-08		60687905	182511468	12	17981											
SCN7A	6332	broad.mit.edu	37	chr2	167289254	167289254	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ctcaccaatgccagaaacagGtaaagtacctaaataaggaa	19	6	7	9	0	1	1	1	0	0	1	1	2	1	2	3	2	3	2	3	2	9	4			TCGA-QU-A6IM-01A-11D-A31L-08	TCGA-QU-A6IM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c46bdf0-625f-4d00-ae75-b9e83d2fe3ea	84da4992-73f8-4179-bc14-13735496a930	g.chr2:167289254G>T	ENST00000409855.1	-	15	2292	c.2166C>A	c.(2164-2166)taC>taA	p.Y722*		NM_002976.3	NP_002967.2	Q01118	SCN7A_HUMAN	sodium channel, voltage-gated, type VII, alpha subunit	722					membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|neuronal action potential (GO:0019228)|sodium ion homeostasis (GO:0055078)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	glial cell projection (GO:0097386)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44					Valproic Acid(DB00313)	CCAGAAACAGGTAAAGTACCT	0.328																																						ENST00000409855.1																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44						c.(2164-2166)taC>taA		sodium channel, voltage-gated, type VII, alpha subunit							22	20	20					2																	167289254		1845	4084	5929	SO:0001587	stop_gained	6332				muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:167289254G>T	M91556	CCDS46442.1	2q21-q23	2012-03-05	2012-02-28	2002-06-14	ENSG00000136546	ENSG00000136546		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10594	protein-coding gene	gene with protein product		182392	"sodium channel, voltage-gated, type VI, alpha", "sodium channel, voltage-gated, type VII, alpha"	SCN6A		10198179	Standard	NM_002976		Approved	Nav2.1, Nav2.2, NaG	uc002udu.2	Q01118	OTTHUMG00000154078	ENST00000409855.1:c.2166C>A	2.37:g.167289254G>T	ENSP00000386796:p.Tyr722*						p.Y722*	NM_002976.3	NP_002967.2	Q01118	SCN7A_HUMAN			15	2292	-			722						Nonsense_Mutation	SNP	ENST00000409855.1	37	c.2166C>A	CCDS46442.1	.	.	.	.	.	.	.	.	.	.	G	37	6.364030	0.97507	.	.	ENSG00000136546	ENST00000409855;ENST00000259060;ENST00000419992	.	.	.	6.17	5.29	0.74685	.	0.118466	0.38548	N	0.001644	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.38643	T	0.18	.	12.5938	0.56456	0.0785:0.0:0.9215:0.0	.	.	.	.	X	722	.	ENSP00000259060:Y722X	Y	-	3	2	SCN7A	166997500	1.000000	0.71417	1.000000	0.80357	0.647000	0.38526	1.735000	0.38176	2.941000	0.99782	0.655000	0.94253	TAC		0.328	SCN7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333745.1			4	12	1	0	0.00909568	1	0.00926257	4	12					T	167289254	G	T	167289254	4	4	360	1	0	0	0	0	0	1	0	0	13923	1256	44	5	2926	5	SCN7A	2	167289254	Nonsense_Mutation	SNP	G	TCGA-QU-A6IM-01A-11D-A31L-08	106601349	167289254	75910119	13	17982											
CCDC108	255101	broad.mit.edu	37	chr2	219888790	219888790	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atagaaagtgtgctgcttccAggagctgccctcagggtagg	9	9	14	9	0	1	1	1	0	0	1	2	2	2	2	2	3	4	4	2	3	3	3			TCGA-QU-A6IM-01A-11D-A31L-08	TCGA-QU-A6IM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c46bdf0-625f-4d00-ae75-b9e83d2fe3ea	84da4992-73f8-4179-bc14-13735496a930	g.chr2:219888790A>T	ENST00000341552.5	-	15	2625	c.2542T>A	c.(2542-2544)Tgg>Agg	p.W848R	CCDC108_ENST00000441968.1_Missense_Mutation_p.W848R|CCDC108_ENST00000453220.1_Missense_Mutation_p.W848R	NM_194302.2	NP_919278.2	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108	848						integral component of membrane (GO:0016021)	poly(A) RNA binding (GO:0044822)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TGCTGCTTCCAGGAGCTGCCC	0.602																																						ENST00000341552.5																			0				autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80						c.(2542-2544)Tgg>Agg		coiled-coil domain containing 108							71	79	76					2																	219888790		2203	4300	6503	SO:0001583	missense	255101					integral to membrane	structural molecule activity	g.chr2:219888790A>T	NM_194302, AL833882, AK127189	CCDS2430.2, CCDS2431.2, CCDS63125.1, CCDS63126.1	2q35	2008-02-05			ENSG00000181378	ENSG00000181378			25325	protein-coding gene	gene with protein product		614270				12477932	Standard	NM_194302		Approved	DKFZp434O0527, MGC35338	uc002vjl.2	Q6ZU64	OTTHUMG00000133013	ENST00000341552.5:c.2542T>A	2.37:g.219888790A>T	ENSP00000340776:p.Trp848Arg					CCDC108_ENST00000453220.1_Missense_Mutation_p.W848R|CCDC108_ENST00000441968.1_Missense_Mutation_p.W848R	p.W848R	NM_194302.2	NP_919278.2	Q6ZU64	CC108_HUMAN		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	15	2625	-		Renal(207;0.0915)	848					A2BDD8|E9PCR1|E9PG25|E9PG72|Q6ZSR8|Q8N0T4|Q8NDJ3	Missense_Mutation	SNP	ENST00000341552.5	37	c.2542T>A	CCDS2430.2	.	.	.	.	.	.	.	.	.	.	A	15.37	2.812260	0.50527	.	.	ENSG00000181378	ENST00000341552;ENST00000441968;ENST00000453220	T;T;T	0.40225	1.04;1.04;1.04	5.84	5.84	0.93424	.	0.000000	0.42682	D	0.000668	T	0.34571	0.0902	M	0.63428	1.95	0.80722	D	1	B	0.30709	0.291	B	0.25884	0.064	T	0.22695	-1.0209	10	0.23302	T	0.38	-13.6547	6.4591	0.21946	0.7882:0.0:0.0723:0.1395	.	848	Q6ZU64	CC108_HUMAN	R	848	ENSP00000340776:W848R;ENSP00000413377:W848R;ENSP00000409117:W848R	ENSP00000340776:W848R	W	-	1	0	CCDC108	219597034	0.234000	0.23783	0.973000	0.42090	0.845000	0.48019	1.390000	0.34464	2.235000	0.73313	0.459000	0.35465	TGG		0.602	CCDC108-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256598.4	NM_194302		27	82	0	0	0	1	0	27	82					T	219888790	A	T	219888790	3	4	360	1	0	0	0	0	1	0	0	0	2743	188	7	5	3319	5	CCDC108	2	219888790	Missense_Mutation	SNP	A	TCGA-QU-A6IM-01A-11D-A31L-08	52599536	219888790	23310583	14	17983											
DOCK10	55619	broad.mit.edu	37	chr2	225652092	225652092	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agagaaactccacacacatgTatagctgctccaccaggata	15	7	7	12	0	0	1	0	0	0	1	2	3	2	2	3	1	3	3	3	1	4	3			TCGA-QU-A6IM-01A-11D-A31L-08	TCGA-QU-A6IM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c46bdf0-625f-4d00-ae75-b9e83d2fe3ea	84da4992-73f8-4179-bc14-13735496a930	g.chr2:225652092T>A	ENST00000258390.7	-	49	5508	c.5441A>T	c.(5440-5442)tAc>tTc	p.Y1814F	DOCK10_ENST00000409592.3_Missense_Mutation_p.Y1808F	NM_014689.2	NP_055504.2	Q96BY6	DOC10_HUMAN	dedicator of cytokinesis 10	1814	DHR-2.				regulation of cell migration (GO:0030334)|small GTPase mediated signal transduction (GO:0007264)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	87		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)		CACACACATGTATAGCTGCTC	0.423																																						ENST00000409592.3																			0				NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	87						c.(5422-5424)tAc>tTc		dedicator of cytokinesis 10							202	198	200					2																	225652092		1986	4176	6162	SO:0001583	missense	55619						GTP binding	g.chr2:225652092T>A	AB014594	CCDS46528.1, CCDS74661.1	2q36.3	2013-01-10			ENSG00000135905	ENSG00000135905		"Pleckstrin homology (PH) domain containing"	23479	protein-coding gene	gene with protein product	"zizimin3"	611518				12432077	Standard	NM_014689		Approved	ZIZ3, KIAA0694	uc010fwz.1	Q96BY6	OTTHUMG00000153428	ENST00000258390.7:c.5441A>T	2.37:g.225652092T>A	ENSP00000258390:p.Tyr1814Phe					DOCK10_ENST00000258390.7_Missense_Mutation_p.Y1814F	p.Y1808F			Q96BY6	DOC10_HUMAN		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)	49	5536	-		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)	1814			DHR-2.		B3FL70|O75178|Q9NW06|Q9NXI8	Missense_Mutation	SNP	ENST00000258390.7	37	c.5423A>T	CCDS46528.1	.	.	.	.	.	.	.	.	.	.	T	17.48	3.400220	0.62177	.	.	ENSG00000135905	ENST00000409592;ENST00000258390;ENST00000373702	T;T	0.19806	2.12;2.12	5.63	5.63	0.86233	.	0.364265	0.30695	N	0.009074	T	0.16128	0.0388	N	0.14661	0.345	0.29410	N	0.861307	B;B;B;B	0.34103	0.437;0.064;0.437;0.215	B;B;B;B	0.36335	0.124;0.038;0.222;0.018	T	0.12243	-1.0555	10	0.87932	D	0	.	15.0202	0.71624	0.0:0.0:0.0:1.0	.	1814;635;1808;476	Q96BY6;B4DF07;B3FL70;B4DEY4	DOC10_HUMAN;.;.;.	F	1808;1814;319	ENSP00000386694:Y1808F;ENSP00000258390:Y1814F	ENSP00000258390:Y1814F	Y	-	2	0	DOCK10	225360336	1.000000	0.71417	0.902000	0.35471	0.953000	0.61014	4.732000	0.62029	2.144000	0.66660	0.528000	0.53228	TAC		0.423	DOCK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331246.1			57	145	0	0	0	1	0	57	145					A	225652092	T	A	225652092	3	1	360	1	0	0	0	0	1	0	0	0	4685	1638	57	5	1151	5	DOCK10	2	225652092	Missense_Mutation	SNP	T	TCGA-QU-A6IM-01A-11D-A31L-08	5763302	225652092	17547281	15	17984											
CTNNB1	1499	broad.mit.edu	37	chr3	41266100	41266100	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcaacagtcttacctggacTctggaatccattctggtgcc	9	11	9	12	0	3	0	0	0	3	0	4	2	4	2	3	3	4	1	3	3	3	2	rs121913416		TCGA-QU-A6IM-01A-11D-A31L-08	TCGA-QU-A6IM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c46bdf0-625f-4d00-ae75-b9e83d2fe3ea	84da4992-73f8-4179-bc14-13735496a930	g.chr3:41266100T>G	ENST00000349496.5	+	3	377	c.97T>G	c.(97-99)Tct>Gct	p.S33A	CTNNB1_ENST00000396185.3_Missense_Mutation_p.S33A|CTNNB1_ENST00000405570.1_Missense_Mutation_p.S33A|CTNNB1_ENST00000453024.1_Missense_Mutation_p.S26A|CTNNB1_ENST00000396183.3_Missense_Mutation_p.S33A	NM_001904.3	NP_001895.1	P35222	CTNB1_HUMAN	catenin (cadherin-associated protein), beta 1, 88kDa	33			Missing (in hepatocellular carcinoma). {ECO:0000269|PubMed:10435629}.|S -> F (in PTR, MDB and hepatocellular carcinoma). {ECO:0000269|PubMed:10192393, ECO:0000269|PubMed:10435629, ECO:0000269|PubMed:10666372}.|S -> L (in hepatocellular carcinoma). {ECO:0000269|PubMed:10435629}.|S -> Y (in colorectal cancer and PTR; enhances transactivation of target genes). {ECO:0000269|PubMed:10192393, ECO:0000269|PubMed:9065402}.		adherens junction assembly (GO:0034333)|androgen receptor signaling pathway (GO:0030521)|anterior/posterior axis specification (GO:0009948)|apoptotic process (GO:0006915)|bone resorption (GO:0045453)|branching involved in ureteric bud morphogenesis (GO:0001658)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|canonical Wnt signaling pathway involved in positive regulation of cardiac outflow tract cell proliferation (GO:0061324)|canonical Wnt signaling pathway involved in positive regulation of epithelial to mesenchymal transition (GO:0044334)|cell adhesion (GO:0007155)|cell fate specification (GO:0001708)|cell maturation (GO:0048469)|cell-matrix adhesion (GO:0007160)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to growth factor stimulus (GO:0071363)|cellular response to indole-3-methanol (GO:0071681)|cellular response to mechanical stimulus (GO:0071260)|central nervous system vasculogenesis (GO:0022009)|cytoskeletal anchoring at plasma membrane (GO:0007016)|determination of dorsal/ventral asymmetry (GO:0048262)|dorsal/ventral axis specification (GO:0009950)|ectoderm development (GO:0007398)|embryonic axis specification (GO:0000578)|embryonic digit morphogenesis (GO:0042733)|embryonic foregut morphogenesis (GO:0048617)|embryonic forelimb morphogenesis (GO:0035115)|embryonic heart tube development (GO:0035050)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal limb joint morphogenesis (GO:0036023)|endodermal cell fate commitment (GO:0001711)|endothelial tube morphogenesis (GO:0061154)|epithelial cell differentiation involved in prostate gland development (GO:0060742)|epithelial to mesenchymal transition (GO:0001837)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|fungiform papilla formation (GO:0061198)|gastrulation with mouth forming second (GO:0001702)|genitalia morphogenesis (GO:0035112)|glial cell fate determination (GO:0007403)|hair cell differentiation (GO:0035315)|hair follicle morphogenesis (GO:0031069)|hair follicle placode formation (GO:0060789)|hindbrain development (GO:0030902)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|layer formation in cerebral cortex (GO:0021819)|lens morphogenesis in camera-type eye (GO:0002089)|liver development (GO:0001889)|lung cell differentiation (GO:0060479)|lung induction (GO:0060492)|lung-associated mesenchyme development (GO:0060484)|male genitalia development (GO:0030539)|mesenchymal cell proliferation involved in lung development (GO:0060916)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|midgut development (GO:0007494)|muscle cell differentiation (GO:0042692)|myoblast differentiation (GO:0045445)|negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of heart induction by canonical Wnt signaling pathway (GO:0003136)|negative regulation of neuron death (GO:1901215)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein sumoylation (GO:0033234)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nephron tubule formation (GO:0072079)|neural plate development (GO:0001840)|neuron migration (GO:0001764)|odontogenesis of dentin-containing tooth (GO:0042475)|oocyte development (GO:0048599)|osteoclast differentiation (GO:0030316)|oviduct development (GO:0060066)|pancreas development (GO:0031016)|patterning of blood vessels (GO:0001569)|positive regulation of apoptotic process (GO:0043065)|positive regulation of branching involved in lung morphogenesis (GO:0061047)|positive regulation of determination of dorsal identity (GO:2000017)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of epithelial cell proliferation involved in prostate gland development (GO:0060769)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of fibroblast growth factor receptor signaling pathway (GO:0045743)|positive regulation of heparan sulfate proteoglycan biosynthetic process (GO:0010909)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein heterooligomerization (GO:0051291)|protein localization to cell surface (GO:0034394)|proximal/distal pattern formation (GO:0009954)|regulation of angiogenesis (GO:0045765)|regulation of calcium ion import (GO:0090279)|regulation of centriole-centriole cohesion (GO:0030997)|regulation of centromeric sister chromatid cohesion (GO:0070602)|regulation of fibroblast proliferation (GO:0048145)|regulation of myelination (GO:0031641)|regulation of nephron tubule epithelial cell differentiation (GO:0072182)|regulation of protein localization to cell surface (GO:2000008)|regulation of secondary heart field cardioblast proliferation (GO:0003266)|regulation of smooth muscle cell proliferation (GO:0048660)|regulation of T cell proliferation (GO:0042129)|renal inner medulla development (GO:0072053)|renal outer medulla development (GO:0072054)|renal vesicle formation (GO:0072033)|response to cadmium ion (GO:0046686)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|Schwann cell proliferation (GO:0014010)|single organismal cell-cell adhesion (GO:0016337)|smooth muscle cell differentiation (GO:0051145)|synapse organization (GO:0050808)|synaptic vesicle transport (GO:0048489)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tongue morphogenesis (GO:0043587)|trachea formation (GO:0060440)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	adherens junction (GO:0005912)|apical part of cell (GO:0045177)|basolateral plasma membrane (GO:0016323)|beta-catenin destruction complex (GO:0030877)|beta-catenin-TCF7L2 complex (GO:0070369)|catenin complex (GO:0016342)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cell periphery (GO:0071944)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|membrane (GO:0016020)|microvillus membrane (GO:0031528)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein-DNA complex (GO:0032993)|Scrib-APC-beta-catenin complex (GO:0034750)|synapse (GO:0045202)|tight junction (GO:0005923)|transcription factor complex (GO:0005667)|Z disc (GO:0030018)|zonula adherens (GO:0005915)	alpha-catenin binding (GO:0045294)|androgen receptor binding (GO:0050681)|cadherin binding (GO:0045296)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|estrogen receptor binding (GO:0030331)|I-SMAD binding (GO:0070411)|ion channel binding (GO:0044325)|kinase binding (GO:0019900)|nuclear hormone receptor binding (GO:0035257)|protein C-terminus binding (GO:0008022)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|R-SMAD binding (GO:0070412)|RNA polymerase II activating transcription factor binding (GO:0001102)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|SMAD binding (GO:0046332)|structural molecule activity (GO:0005198)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)	p.A5_A80del(53)|p.S33P(47)|p.S33A(16)|p.A5_Q143del(7)|p.A5_A80>D(7)|p.Q28_H134del(5)|p.W25_D32del(4)|p.S33L(4)|p.?(4)|p.V22_G38del(3)|p.W25_I140del(3)|p.T3_A126del(2)|p.S33N(2)|p.S23_S33del(2)|p.V22_S33del(2)|p.A5fs*7(2)|p.D32_S47del(2)|p.M5_N141>D(2)|p.L10_N141del(2)|p.A5_Y142>D(2)|p.Y30_S33del(2)|p.A5_Q143>E(1)|p.A13_R151del(1)|p.M14_S45del(1)|p.A20_N141del(1)|p.M1_A87del(1)|p.D11_Y142>H(1)|p.H24_G38del(1)|p.S23_I35del(1)|p.Y30_A97del(1)|p.W25_S33del(1)|p.V22_T102del(1)|p.A20_A80del(1)|p.V22_S71>A(1)|p.Q28_A43del(1)|p.A5_T59del(1)|p.D32fs*9(1)|p.A20_I35del(1)|p.M1_V173del(1)|p.E15_I140>V(1)|p.S23_A39del(1)|p.H24_M131del(1)|p.A21_A80del(1)|p.Y30_A80del(1)|p.A5_T40del(1)|p.S29_H36del(1)|p.A5_E54del(1)|p.W25_I35del(1)|p.S33_S37del(1)|p.M8_A80del(1)|p.P16_K133del(1)|p.D32_S33insS(1)|p.V22_Y64del(1)|p.Q28_Q61del(1)|p.A20_S111del(1)|p.Y30_T40del(1)|p.S33T(1)|p.D32_H36>D(1)|p.A5_I35del(1)|p.D32_H36del(1)	CTNNB1/PLAG1(60)	NS(4)|adrenal_gland(103)|biliary_tract(43)|bone(21)|breast(7)|central_nervous_system(260)|cervix(9)|endometrium(293)|eye(1)|haematopoietic_and_lymphoid_tissue(60)|kidney(202)|large_intestine(269)|liver(1010)|lung(63)|oesophagus(6)|ovary(106)|pancreas(126)|parathyroid(11)|pituitary(111)|pleura(2)|prostate(31)|salivary_gland(13)|skin(103)|small_intestine(17)|soft_tissue(792)|stomach(165)|thyroid(55)|upper_aerodigestive_tract(2)|urinary_tract(8)	3893				KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294)		TTACCTGGACTCTGGAATCCA	0.488		15	"H, Mis, T"	PLAG1	"colorectal, cvarian,  hepatoblastoma, others, pleomorphic salivary adenoma"				Pilomatrixoma, Familial Clustering of																												Colon(6;3 56 14213 18255)	ENST00000349496.5		15		Dom	yes		3	3p22-p21.3	1499	"H, Mis, T"	"catenin (cadherin-associated protein), beta 1"			"E, M, O"	PLAG1		"colorectal, cvarian,  hepatoblastoma, others, pleomorphic salivary adenoma"	CTNNB1/PLAG1(60)	212	Deletion - In frame(115)|Substitution - Missense(70)|Complex - deletion inframe(16)|Unknown(7)|Deletion - Frameshift(3)|Insertion - In frame(1)	p.A5_A80del(53)|p.S33P(47)|p.S33A(16)|p.A5_Q143del(7)|p.A5_A80>D(7)|p.Q28_H134del(5)|p.W25_D32del(4)|p.S33L(4)|p.?(4)|p.V22_G38del(3)|p.W25_I140del(3)|p.T3_A126del(2)|p.S33N(2)|p.S23_S33del(2)|p.V22_S33del(2)|p.A5fs*7(2)|p.D32_S47del(2)|p.M5_N141>D(2)|p.L10_N141del(2)|p.A5_Y142>D(2)|p.Y30_S33del(2)|p.A5_Q143>E(1)|p.A13_R151del(1)|p.M14_S45del(1)|p.A20_N141del(1)|p.M1_A87del(1)|p.D11_Y142>H(1)|p.H24_G38del(1)|p.S23_I35del(1)|p.Y30_A97del(1)|p.W25_S33del(1)|p.V22_T102del(1)|p.A20_A80del(1)|p.V22_S71>A(1)|p.Q28_A43del(1)|p.A5_T59del(1)|p.D32fs*9(1)|p.A20_I35del(1)|p.M1_V173del(1)|p.E15_I140>V(1)|p.S23_A39del(1)|p.H24_M131del(1)|p.A21_A80del(1)|p.Y30_A80del(1)|p.A5_T40del(1)|p.S29_H36del(1)|p.A5_E54del(1)|p.W25_I35del(1)|p.S33_S37del(1)|p.M8_A80del(1)|p.P16_K133del(1)|p.D32_S33insS(1)|p.V22_Y64del(1)|p.Q28_Q61del(1)|p.A20_S111del(1)|p.Y30_T40del(1)|p.S33T(1)|p.D32_H36>D(1)|p.A5_I35del(1)|p.D32_H36del(1)	liver(130)|large_intestine(20)|endometrium(14)|stomach(10)|pituitary(9)|pancreas(9)|central_nervous_system(8)|adrenal_gland(2)|small_intestine(2)|biliary_tract(2)|skin(2)|soft_tissue(1)|haematopoietic_and_lymphoid_tissue(1)|ovary(1)|breast(1)	NS(4)|adrenal_gland(103)|biliary_tract(43)|bone(21)|breast(7)|central_nervous_system(260)|cervix(9)|endometrium(293)|eye(1)|haematopoietic_and_lymphoid_tissue(60)|kidney(202)|large_intestine(269)|liver(1010)|lung(63)|oesophagus(6)|ovary(106)|pancreas(126)|parathyroid(11)|pituitary(111)|pleura(2)|prostate(31)|salivary_gland(13)|skin(103)|small_intestine(17)|soft_tissue(792)|stomach(165)|thyroid(55)|upper_aerodigestive_tract(2)|urinary_tract(8)	3893						c.(97-99)Tct>Gct		catenin (cadherin-associated protein), beta 1, 88kDa	Lithium(DB01356)						93	77	82					3																	41266100		2203	4300	6503	SO:0001583	missense	1499	Pilomatrixoma, Familial Clustering of	Familial Cancer Database	Pilomatricoma, Familial Clustering of, Epithelioma Calcificans of Malherbe	adherens junction assembly|androgen receptor signaling pathway|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway involved in negative regulation of apoptosis|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell-cell adhesion|cell-matrix adhesion|cellular component disassembly involved in apoptosis|cellular response to growth factor stimulus|cellular response to indole-3-methanol|central nervous system vasculogenesis|cytoskeletal anchoring at plasma membrane|determination of dorsal/ventral asymmetry|dorsal/ventral axis specification|ectoderm development|embryonic axis specification|embryonic foregut morphogenesis|embryonic leg joint morphogenesis|endodermal cell fate commitment|endothelial tube morphogenesis|epithelial to mesenchymal transition|gastrulation with mouth forming second|glial cell fate determination|hair follicle morphogenesis|hair follicle placode formation|hindbrain development|liver development|lung cell differentiation|lung induction|lung-associated mesenchyme development|male genitalia development|mesenchymal cell proliferation involved in lung development|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of osteoclast differentiation|negative regulation of transcription from RNA polymerase II promoter|nephron tubule formation|odontogenesis of dentine-containing tooth|oocyte development|pancreas development|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of branching involved in lung morphogenesis|positive regulation of epithelial cell proliferation involved in prostate gland development|positive regulation of fibroblast growth factor receptor signaling pathway|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of muscle cell differentiation|positive regulation of osteoblast differentiation|positive regulation of transcription from RNA polymerase II promoter|protein localization at cell surface|proximal/distal pattern formation|regulation of angiogenesis|regulation of calcium ion import|regulation of centriole-centriole cohesion|regulation of centromeric sister chromatid cohesion|regulation of fibroblast proliferation|regulation of nephron tubule epithelial cell differentiation|regulation of protein localization at cell surface|regulation of smooth muscle cell proliferation|regulation of T cell proliferation|renal inner medulla development|renal outer medulla development|renal vesicle formation|response to drug|response to estradiol stimulus|Schwann cell proliferation|smooth muscle cell differentiation|synapse organization|synaptic vesicle transport|T cell differentiation in thymus|thymus development|trachea formation	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin-TCF7L2 complex|catenin complex|cell cortex|cell-substrate adherens junction|centrosome|dendritic shaft|desmosome|fascia adherens|internal side of plasma membrane|lamellipodium|lateral plasma membrane|microvillus membrane|perinuclear region of cytoplasm|protein-DNA complex|synapse|transcription factor complex|Z disc|zonula adherens	alpha-catenin binding|androgen receptor binding|cadherin binding|estrogen receptor binding|I-SMAD binding|ion channel binding|protein binding|protein C-terminus binding|protein kinase binding|protein phosphatase binding|R-SMAD binding|RPTP-like protein binding|signal transducer activity|specific RNA polymerase II transcription factor activity|structural molecule activity|transcription coactivator activity|transcription regulatory region DNA binding	g.chr3:41266100T>G	X87838	CCDS2694.1	3p21	2013-02-15	2002-08-29		ENSG00000168036	ENSG00000168036		"Armadillo repeat containing"	2514	protein-coding gene	gene with protein product		116806	"catenin (cadherin-associated protein), beta 1 (88kD)"	CTNNB		7829088	Standard	NM_001098210		Approved	beta-catenin, armadillo	uc003ckr.2	P35222	OTTHUMG00000131393	ENST00000349496.5:c.97T>G	3.37:g.41266100T>G	ENSP00000344456:p.Ser33Ala					CTNNB1_ENST00000396183.3_Missense_Mutation_p.S33A|CTNNB1_ENST00000405570.1_Missense_Mutation_p.S33A|CTNNB1_ENST00000396185.3_Missense_Mutation_p.S33A|CTNNB1_ENST00000453024.1_Missense_Mutation_p.S26A	p.S33A	NM_001904.3	NP_001895.1	P35222	CTNB1_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294)	3	377	+			33		Missing (in hepatocellular carcinoma).|S -> F (in PTR, MDB and hepatocellular carcinoma).|S -> L (in hepatocellular carcinoma).|S -> Y (in colorectal cancer and PTR; enhances transactivation of target genes).			A8K1L7|Q8NEW9|Q8NI94|Q9H391	Missense_Mutation	SNP	ENST00000349496.5	37	c.97T>G	CCDS2694.1	.	.	.	.	.	.	.	.	.	.	T	22.6	4.317386	0.81469	.	.	ENSG00000168036	ENST00000426215;ENST00000405570;ENST00000431914;ENST00000396183;ENST00000349496;ENST00000453024;ENST00000396185;ENST00000450969;ENST00000441708	T;T;T;T;T;T;T;T;T	0.48836	0.8;0.8;0.8;0.8;0.8;0.8;0.8;0.8;0.8	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	T	0.70281	0.3206	M	0.79614	2.46	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.74509	-0.3642	10	0.87932	D	0	-10.7796	16.0677	0.80897	0.0:0.0:0.0:1.0	.	33	P35222	CTNB1_HUMAN	A	26;33;33;33;33;26;33;33;33	ENSP00000400508:S26A;ENSP00000385604:S33A;ENSP00000412219:S33A;ENSP00000379486:S33A;ENSP00000344456:S33A;ENSP00000411226:S26A;ENSP00000379488:S33A;ENSP00000409302:S33A;ENSP00000401599:S33A	ENSP00000344456:S33A	S	+	1	0	CTNNB1	41241104	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.040000	0.89188	2.201000	0.70794	0.533000	0.62120	TCT		0.488	CTNNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254182.2	NM_001098210		3	39	0	0	0	1	0	3	39					G	41266100	T	G	41266100	3	3	360	1	0	0	0	0	1	0	0	0	4016	1551	54	5	103	5	CTNNB1	3	41266100	Missense_Mutation	SNP	T	TCGA-QU-A6IM-01A-11D-A31L-08		41266100	156756330	16	17985											
CADPS	8618	broad.mit.edu	37	chr3	62751641	62751641	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaaccggtccttgactgtctGcagctgctgtttgctgatct	6	14	10	11	1	2	2	0	2	2	0	3	2	3	2	2	1	5	5	2	1	1	2			TCGA-QU-A6IM-01A-11D-A31L-08	TCGA-QU-A6IM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c46bdf0-625f-4d00-ae75-b9e83d2fe3ea	84da4992-73f8-4179-bc14-13735496a930	g.chr3:62751641G>T	ENST00000383710.4	-	2	809	c.460C>A	c.(460-462)Cag>Aag	p.Q154K	CADPS_ENST00000357948.3_Missense_Mutation_p.Q154K|CADPS_ENST00000490353.2_Missense_Mutation_p.Q154K|CADPS_ENST00000283269.9_Missense_Mutation_p.Q154K	NM_003716.3	NP_003707.2	Q9ULU8	CAPS1_HUMAN	Ca++-dependent secretion activator	154					catecholamine secretion (GO:0050432)|exocytosis (GO:0006887)|protein transport (GO:0015031)|synaptic vesicle priming (GO:0016082)|vesicle organization (GO:0016050)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|membrane (GO:0016020)|synapse (GO:0045202)	lipid binding (GO:0008289)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)			breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2)	92		Lung SC(41;0.0452)		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)		TTGACTGTCTGCAGCTGCTGT	0.468																																						ENST00000383710.4																			0				breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2)	92						c.(460-462)Cag>Aag		Ca++-dependent secretion activator							123	110	114					3																	62751641		2203	4300	6503	SO:0001583	missense	8618				exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|cytosol|synapse	lipid binding|metal ion binding	g.chr3:62751641G>T	U36448	CCDS2898.1, CCDS2899.1, CCDS46858.1	3p21.1	2013-01-10	2008-08-28		ENSG00000163618	ENSG00000163618		"Pleckstrin homology (PH) domain containing"	1426	protein-coding gene	gene with protein product		604667				1516133	Standard	NM_183393		Approved	CAPS, KIAA1121, CAPS1	uc003dll.2	Q9ULU8	OTTHUMG00000158651	ENST00000383710.4:c.460C>A	3.37:g.62751641G>T	ENSP00000373215:p.Gln154Lys					CADPS_ENST00000490353.2_Missense_Mutation_p.Q154K|CADPS_ENST00000283269.9_Missense_Mutation_p.Q154K|CADPS_ENST00000357948.3_Missense_Mutation_p.Q154K	p.Q154K	NM_003716.3	NP_003707.2	Q9ULU8	CAPS1_HUMAN		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)	2	809	-		Lung SC(41;0.0452)	154					A6NF60|Q13339|Q6GQQ6|Q8N2Z5|Q8N3M7|Q8NFR0|Q96BC2	Missense_Mutation	SNP	ENST00000383710.4	37	c.460C>A	CCDS46858.1	.	.	.	.	.	.	.	.	.	.	G	19.66	3.868618	0.72065	.	.	ENSG00000163618	ENST00000383709;ENST00000383710;ENST00000357948;ENST00000283269;ENST00000490353	T;T;T;T	0.80653	-1.4;-1.4;-1.4;-1.4	5.24	5.24	0.73138	.	0.054596	0.85682	D	0.000000	D	0.88269	0.6391	M	0.68952	2.095	0.58432	D	0.999998	P;P;D	0.54964	0.866;0.811;0.969	P;P;D	0.64877	0.591;0.879;0.93	D	0.88826	0.3302	10	0.62326	D	0.03	.	17.9568	0.89072	0.0:0.0:1.0:0.0	.	154;154;154	Q9ULU8-2;Q9ULU8-3;Q9ULU8	.;.;CAPS1_HUMAN	K	154	ENSP00000373215:Q154K;ENSP00000350632:Q154K;ENSP00000283269:Q154K;ENSP00000418736:Q154K	ENSP00000283269:Q154K	Q	-	1	0	CADPS	62726681	1.000000	0.71417	0.989000	0.46669	0.995000	0.86356	9.398000	0.97281	2.602000	0.87976	0.655000	0.94253	CAG		0.468	CADPS-013	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351951.5	NM_003716, NM_183393, NM_183394		33	58	1	0	1.30293e-26	1	1.4179e-26	33	58					T	62751641	G	T	62751641	3	4	360	1	0	0	0	0	1	0	0	0	2570	1328	46	5	3790	5	CADPS	3	62751641	Missense_Mutation	SNP	G	TCGA-QU-A6IM-01A-11D-A31L-08	21485541	62751641	135270789	17	17986											
TMPRSS7	344805	broad.mit.edu	37	chr3	111795980	111795980	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggtaactggctgggggcgaaGacacgaagcaggtgtgtgta	10	7	18	6	2	0	1	0	0	0	1	0	3	0	1	0	5	2	4	0	5	4	2			TCGA-QU-A6IM-01A-11D-A31L-08	TCGA-QU-A6IM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c46bdf0-625f-4d00-ae75-b9e83d2fe3ea	84da4992-73f8-4179-bc14-13735496a930	g.chr3:111795980G>A	ENST00000452346.2	+	16	2216	c.2213G>A	c.(2212-2214)aGa>aAa	p.R738K	TMPRSS7_ENST00000419127.1_Missense_Mutation_p.R612K			Q7RTY8	TMPS7_HUMAN	transmembrane protease, serine 7	738	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				proteolysis (GO:0006508)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			breast(2)|endometrium(6)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						TGGGGGCGAAGACACGAAGCA	0.517																																						ENST00000452346.2																			0				breast(2)|endometrium(6)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						c.(2212-2214)aGa>aAa		transmembrane protease, serine 7							57	54	55					3																	111795980		2027	4187	6214	SO:0001583	missense	344805				proteolysis	integral to membrane|plasma membrane	serine-type endopeptidase activity	g.chr3:111795980G>A	BN000125	CCDS43129.2	3q13.2	2010-04-13	2004-03-16		ENSG00000176040	ENSG00000176040		"Serine peptidases / Transmembrane"	30846	protein-coding gene	gene with protein product			"type II transmembrane serine protease 7"			12838346	Standard	NM_001042575		Approved		uc010hqb.2	Q7RTY8	OTTHUMG00000157148	ENST00000452346.2:c.2213G>A	3.37:g.111795980G>A	ENSP00000398236:p.Arg738Lys					TMPRSS7_ENST00000419127.1_Missense_Mutation_p.R612K	p.R738K			Q7RTY8	TMPS7_HUMAN			16	2216	+			738			Peptidase S1.		C9J8P7|E9PAS3|Q17RH4	Missense_Mutation	SNP	ENST00000452346.2	37	c.2213G>A		.	.	.	.	.	.	.	.	.	.	G	0.442	-0.898240	0.02472	.	.	ENSG00000176040	ENST00000452346;ENST00000443106;ENST00000437906;ENST00000419127	T;T	0.60040	0.22;0.22	5.89	3.1	0.35709	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.196102	0.41500	N	0.000861	T	0.30603	0.0770	N	0.16066	0.365	0.09310	N	0.99999	B;B	0.06786	0.001;0.0	B;B	0.09377	0.004;0.001	T	0.23619	-1.0183	10	0.06365	T	0.9	.	5.8168	0.18497	0.2199:0.0:0.6421:0.138	.	738;612	Q7RTY8;Q7RTY8-2	TMPS7_HUMAN;.	K	738;726;712;612	ENSP00000398236:R738K;ENSP00000411645:R612K	ENSP00000411645:R612K	R	+	2	0	TMPRSS7	113278670	1.000000	0.71417	0.992000	0.48379	0.378000	0.30076	1.693000	0.37742	0.381000	0.24851	0.655000	0.94253	AGA		0.517	TMPRSS7-003	NOVEL	NAGNAG_splice_site|not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000347592.2	XM_293599		13	52	0	0	0	1	0	13	52					A	111795980	G	A	111795980	3	1	360	1	0	0	0	0	1	0	0	0	16249	942	33	3	1885	3	TMPRSS7	3	111795980	Missense_Mutation	SNP	G	TCGA-QU-A6IM-01A-11D-A31L-08	49044339	111795980	86226450	18	17987											
PLCH1	23007	broad.mit.edu	37	chr3	155200544	155200544	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacaccatgcagatcttgtgTggggttaactacaggatcgg	10	10	12	9	1	1	1	0	0	1	1	2	2	1	2	1	4	3	2	1	4	2	3			TCGA-QU-A6IM-01A-11D-A31L-08	TCGA-QU-A6IM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c46bdf0-625f-4d00-ae75-b9e83d2fe3ea	84da4992-73f8-4179-bc14-13735496a930	g.chr3:155200544T>C	ENST00000340059.7	-	23	3294	c.3295A>G	c.(3295-3297)Aca>Gca	p.T1099A	PLCH1_ENST00000460012.1_Missense_Mutation_p.T1061A|PLCH1_ENST00000447496.2_3'UTR|PLCH1_ENST00000334686.6_Missense_Mutation_p.T1061A|PLCH1_ENST00000494598.1_Intron|PLCH1_ENST00000414191.1_Missense_Mutation_p.T1061A	NM_001130960.1	NP_001124432.1	Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	1099					inositol phosphate metabolic process (GO:0043647)|lipid catabolic process (GO:0016042)|phosphatidylinositol-mediated signaling (GO:0048015)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent phospholipase C activity (GO:0050429)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871)			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			AGATCTTGTGTGGGGTTAACT	0.478																																						ENST00000460012.1																			0				NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107						c.(3181-3183)Aca>Gca		phospholipase C, eta 1							159	160	159					3																	155200544		2203	4300	6503	SO:0001583	missense	23007				lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr3:155200544T>C	AB028992	CCDS33881.1, CCDS46939.1, CCDS46940.1	3q25	2013-01-10	2006-03-16	2006-03-16	ENSG00000114805	ENSG00000114805	3.1.4.11	"EF-hand domain containing"	29185	protein-coding gene	gene with protein product		612835	"phospholipase C-like 3"	PLCL3		15702972	Standard	NM_014996		Approved	KIAA1069, MGC117152, DKFZp434C1372, PLCeta1	uc021xge.1	Q4KWH8	OTTHUMG00000158477	ENST00000340059.7:c.3295A>G	3.37:g.155200544T>C	ENSP00000345988:p.Thr1099Ala					PLCH1_ENST00000340059.7_Missense_Mutation_p.T1099A|PLCH1_ENST00000334686.6_Missense_Mutation_p.T1061A|PLCH1_ENST00000447496.2_3'UTR|PLCH1_ENST00000494598.1_Intron|PLCH1_ENST00000414191.1_Missense_Mutation_p.T1061A	p.T1061A			Q4KWH8	PLCH1_HUMAN	Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)		23	3538	-			1099					Q29RV9|Q4KWH9|Q68CN0|Q86XK4|Q9H9U2|Q9UPT3	Missense_Mutation	SNP	ENST00000340059.7	37	c.3181A>G	CCDS46939.1	.	.	.	.	.	.	.	.	.	.	T	7.528	0.658054	0.14645	.	.	ENSG00000114805	ENST00000460012;ENST00000340059;ENST00000334686;ENST00000414191	T;T;T;T	0.20463	2.07;2.07;2.07;2.07	5.57	-6.41	0.01938	.	2.093560	0.01521	N	0.018371	T	0.09598	0.0236	N	0.19112	0.55	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.19386	-1.0307	10	0.17369	T	0.5	.	0.7503	0.00989	0.2697:0.1278:0.2503:0.3522	.	1061;1099	Q4KWH8-2;Q4KWH8	.;PLCH1_HUMAN	A	1061;1099;1061;1061	ENSP00000417502:T1061A;ENSP00000345988:T1099A;ENSP00000335469:T1061A;ENSP00000412977:T1061A	ENSP00000335469:T1061A	T	-	1	0	PLCH1	156683238	0.000000	0.05858	0.000000	0.03702	0.075000	0.17131	-2.304000	0.01134	-0.505000	0.06568	0.482000	0.46254	ACA		0.478	PLCH1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000351125.1	NM_014996		46	134	0	0	0	1	0	46	134					C	155200544	T	C	155200544	3	2	360	1	0	0	0	0	1	0	0	0	12037	1696	59	4	1790	4	PLCH1	3	155200544	Missense_Mutation	SNP	T	TCGA-QU-A6IM-01A-11D-A31L-08	43404564	155200544	42821886	19	17988											
VEPH1	79674	broad.mit.edu	37	chr3	157081347	157081347	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aattctctgagtctatatgtAtaatatttgggtatgaaact	13	17	7	4	0	2	2	0	2	2	0	3	2	2	2	0	1	1	2	0	1	8	8			TCGA-QU-A6IM-01A-11D-A31L-08	TCGA-QU-A6IM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c46bdf0-625f-4d00-ae75-b9e83d2fe3ea	84da4992-73f8-4179-bc14-13735496a930	g.chr3:157081347A>G	ENST00000362010.2	-	9	1848	c.1541T>C	c.(1540-1542)aTa>aCa	p.I514T	VEPH1_ENST00000392833.2_Missense_Mutation_p.I514T|VEPH1_ENST00000543418.1_Missense_Mutation_p.I514T|VEPH1_ENST00000392832.2_Missense_Mutation_p.I514T|RP11-550I24.2_ENST00000487238.1_RNA	NM_001167912.1	NP_001161384.1	Q14D04	MELT_HUMAN	ventricular zone expressed PH domain-containing 1	514						plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(5)|cervix(1)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|pancreas(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48			Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461)			GTCTATATGTATAATATTTGG	0.413																																						ENST00000362010.2																			0				autonomic_ganglia(1)|breast(5)|cervix(1)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|pancreas(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						c.(1540-1542)aTa>aCa		ventricular zone expressed PH domain-containing 1							103	112	109					3																	157081347		2203	4300	6503	SO:0001583	missense	79674					plasma membrane		g.chr3:157081347A>G	AL713656	CCDS3179.1, CCDS54661.1, CCDS54662.1, CCDS54663.1	3q24-q25	2013-01-10	2012-12-10		ENSG00000197415	ENSG00000197415		"Pleckstrin homology (PH) domain containing"	25735	protein-coding gene	gene with protein product		609594	"ventricular zone expressed PH domain homolog 1 (zebrafish)"			11214970, 15388229	Standard	NM_024621		Approved	FLJ12604, KIAA1692	uc003fbk.2	Q14D04	OTTHUMG00000158711	ENST00000362010.2:c.1541T>C	3.37:g.157081347A>G	ENSP00000354919:p.Ile514Thr					RP11-550I24.2_ENST00000487238.1_RNA|VEPH1_ENST00000392833.2_Missense_Mutation_p.I514T|VEPH1_ENST00000543418.1_Missense_Mutation_p.I514T|VEPH1_ENST00000392832.2_Missense_Mutation_p.I514T	p.I514T	NM_001167912.1	NP_001161384.1	Q14D04	MELT_HUMAN	Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461)		9	1848	-			514					D3DNL0|F5GZ91|Q2TAA9|Q3MIX2|Q6PEL3|Q86TL5|Q8TCR3|Q96SP7|Q9C0H1|Q9H9Q7	Missense_Mutation	SNP	ENST00000362010.2	37	c.1541T>C	CCDS3179.1	.	.	.	.	.	.	.	.	.	.	A	0.160	-1.082079	0.01888	.	.	ENSG00000197415	ENST00000392833;ENST00000362010;ENST00000543418;ENST00000392832	T;T;T;T	0.12361	2.69;2.75;2.69;2.75	5.5	-2.15	0.07102	.	1.247070	0.05261	N	0.515774	T	0.06050	0.0157	N	0.14661	0.345	0.09310	N	1	B;B	0.22211	0.066;0.002	B;B	0.21708	0.036;0.004	T	0.33137	-0.9880	10	0.02654	T	1	-0.2426	4.7412	0.13013	0.2826:0.0:0.2569:0.4604	.	514;514	Q14D04-2;Q14D04	.;MELT_HUMAN	T	514	ENSP00000376578:I514T;ENSP00000354919:I514T;ENSP00000446258:I514T;ENSP00000376577:I514T	ENSP00000354919:I514T	I	-	2	0	VEPH1	158564041	0.003000	0.15002	0.004000	0.12327	0.190000	0.23558	0.862000	0.27899	-0.180000	0.10637	-0.256000	0.11100	ATA		0.413	VEPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351845.3	NM_024621		31	76	0	0	0	1	0	31	76					G	157081347	A	G	157081347	3	3	360	1	0	0	0	0	1	0	0	0	17151	449	16	4	984	4	VEPH1	3	157081347	Missense_Mutation	SNP	A	TCGA-QU-A6IM-01A-11D-A31L-08	1880803	157081347	40941083	20	17989											
BOD1L	259282	broad.mit.edu	37	chr4	13606062	13606062	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cttttttgttgttttctttaCgaacattctcatctgttttt	5	25	4	7	1	3	0	1	0	3	0	4	1	3	0	0	0	2	3	0	0	2	11			TCGA-QU-A6IM-01A-11D-A31L-08	TCGA-QU-A6IM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c46bdf0-625f-4d00-ae75-b9e83d2fe3ea	84da4992-73f8-4179-bc14-13735496a930	g.chr4:13606062C>T	ENST00000040738.5	-	10	2597	c.2462G>A	c.(2461-2463)cGt>cAt	p.R821H		NM_148894.2	NP_683692.2	Q8NFC6	BD1L1_HUMAN	biorientation of chromosomes in cell division 1-like 1	821	Lys-rich.					nucleus (GO:0005634)	DNA binding (GO:0003677)										GTTTTCTTTACGAACATTCTC	0.323																																						ENST00000040738.5																			0											c.(2461-2463)cGt>cAt		biorientation of chromosomes in cell division 1-like 1							77	69	72					4																	13606062		2202	4299	6501	SO:0001583	missense	259282						DNA binding	g.chr4:13606062C>T	AF528529	CCDS3411.2	4p16.1	2012-04-10	2012-04-10	2012-04-10	ENSG00000038219	ENSG00000038219			31792	protein-coding gene	gene with protein product			"family with sequence similarity 44, member A", "biorientation of chromosomes in cell division 1-like"	FAM44A, BOD1L			Standard	XM_005248150		Approved	FLJ33215, KIAA1327	uc003gmz.1	Q8NFC6	OTTHUMG00000090659	ENST00000040738.5:c.2462G>A	4.37:g.13606062C>T	ENSP00000040738:p.Arg821His						p.R821H	NM_148894.2	NP_683692.2	Q8NFC6	BOD1L_HUMAN			10	2597	-			821			Lys-rich.		Q6P0M8|Q96AL1|Q9H6G0|Q9NTD6|Q9P2L9	Missense_Mutation	SNP	ENST00000040738.5	37	c.2462G>A	CCDS3411.2	.	.	.	.	.	.	.	.	.	.	C	18.09	3.546067	0.65198	.	.	ENSG00000038219	ENST00000040738	T	0.17691	2.26	5.16	5.16	0.70880	.	0.000000	0.44097	D	0.000500	T	0.27419	0.0673	M	0.63843	1.955	0.34853	D	0.741848	D	0.57899	0.981	P	0.50659	0.647	T	0.39860	-0.9593	10	0.56958	D	0.05	-5.8402	12.0692	0.53607	0.0:0.9206:0.0:0.0794	.	821	Q8NFC6	BOD1L_HUMAN	H	821	ENSP00000040738:R821H	ENSP00000040738:R821H	R	-	2	0	BOD1L	13215160	1.000000	0.71417	0.984000	0.44739	0.989000	0.77384	2.587000	0.46128	2.401000	0.81631	0.557000	0.71058	CGT		0.323	BOD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207321.1	NM_148894		3	18	0	0	0	1	0	3	18					T	13606062	C	T	13606062	3	4	360	1	0	0	0	0	1	0	0	0	1483	536	19	1	6761	1	BOD1L	4	13606062	Missense_Mutation	SNP	C	TCGA-QU-A6IM-01A-11D-A31L-08		13606062	177548214	21	17990											
FAM13A	10144	broad.mit.edu	37	chr4	89702352	89702352	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttgtcatgaagctcagaaagTttagtactggatttctgacg	11	14	10	6	1	3	3	2	2	1	1	3	4	3	4	0	1	2	3	0	1	4	5			TCGA-QU-A6IM-01A-11D-A31L-08	TCGA-QU-A6IM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c46bdf0-625f-4d00-ae75-b9e83d2fe3ea	84da4992-73f8-4179-bc14-13735496a930	g.chr4:89702352T>C	ENST00000264344.5	-	11	1629	c.1422A>G	c.(1420-1422)aaA>aaG	p.K474K	FAM13A_ENST00000511976.1_Intron|FAM13A_ENST00000395002.2_Silent_p.K148K|FAM13A_ENST00000503556.1_Silent_p.K134K|FAM13A_ENST00000502459.1_5'UTR|FAM13A_ENST00000508369.1_Silent_p.K148K|FAM13A_ENST00000513837.1_Silent_p.K120K	NM_014883.3	NP_055698.2	O94988	FA13A_HUMAN	family with sequence similarity 13, member A	474					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	55						GCTCAGAAAGTTTAGTACTGG	0.358																																						ENST00000264344.5																			0				NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	55						c.(1420-1422)aaA>aaG		family with sequence similarity 13, member A							128	117	121					4																	89702352		2203	4300	6503	SO:0001819	synonymous_variant	10144				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	g.chr4:89702352T>C	AB020721	CCDS34029.1, CCDS43251.1, CCDS58911.1, CCDS58912.1, CCDS58913.1	4q22.1	2011-09-07	2009-01-20	2009-01-20	ENSG00000138640	ENSG00000138640		"Rho GTPase activating proteins"	19367	protein-coding gene	gene with protein product		613299	"family with sequence similarity 13, member A1"	FAM13A1			Standard	NM_014883		Approved	KIAA0914, ARHGAP48	uc003hse.2	O94988	OTTHUMG00000161006	ENST00000264344.5:c.1422A>G	4.37:g.89702352T>C						FAM13A_ENST00000395002.2_Silent_p.K148K|FAM13A_ENST00000508369.1_Silent_p.K148K|FAM13A_ENST00000511976.1_Intron|FAM13A_ENST00000502459.1_5'UTR|FAM13A_ENST00000513837.1_Silent_p.K120K|FAM13A_ENST00000503556.1_Silent_p.K134K	p.K474K	NM_014883.3	NP_055698.2	O94988	FA13A_HUMAN			11	1629	-			474					B4DLC1|Q24JP0|Q5PR21|Q8NBA3	Silent	SNP	ENST00000264344.5	37	c.1422A>G	CCDS34029.1																																																																																				0.358	FAM13A-022	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363371.1			31	69	0	0	0	1	0	31	69					C	89702352	T	C	89702352	2	2	360	1	0	0	0	0	0	0	0	1	5452	1722	60	4		4	FAM13A	4	89702352	Silent	SNP	T	TCGA-QU-A6IM-01A-11D-A31L-08	76096290	89702352	101451924	22	17991											
CARD6	84674	broad.mit.edu	37	chr5	40853136	40853136	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtgagaaggaatgggacttgCtaatgtttttaggagaggct	11	12	15	3	0	0	2	0	1	0	2	0	6	0	4	0	4	1	3	0	4	4	5			TCGA-QU-A6IM-01A-11D-A31L-08	TCGA-QU-A6IM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c46bdf0-625f-4d00-ae75-b9e83d2fe3ea	84da4992-73f8-4179-bc14-13735496a930	g.chr5:40853136C>T	ENST00000254691.5	+	3	1901	c.1702C>T	c.(1702-1704)Cta>Tta	p.L568L	CARD6_ENST00000381677.3_Intron	NM_032587.3	NP_115976.2	Q9BX69	CARD6_HUMAN	caspase recruitment domain family, member 6	568					apoptotic process (GO:0006915)|regulation of apoptotic process (GO:0042981)					NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(2)|lung(29)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	62						ATGGGACTTGCTAATGTTTTT	0.398																																						ENST00000254691.5																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(2)|lung(29)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	62						c.(1702-1704)Cta>Tta		caspase recruitment domain family, member 6							119	118	119					5																	40853136		2203	4300	6503	SO:0001819	synonymous_variant	84674				apoptosis|regulation of apoptosis	intracellular		g.chr5:40853136C>T	AF356193	CCDS3935.1	5p13.1	2008-05-23			ENSG00000132357	ENSG00000132357			16394	protein-coding gene	gene with protein product		609986				12775719	Standard	NM_032587		Approved	CINCIN1	uc003jmg.3	Q9BX69	OTTHUMG00000094775	ENST00000254691.5:c.1702C>T	5.37:g.40853136C>T						CARD6_ENST00000381677.3_Intron	p.L568L	NM_032587.3	NP_115976.2	Q9BX69	CARD6_HUMAN			3	1901	+			568					Q52LR2	Silent	SNP	ENST00000254691.5	37	c.1702C>T	CCDS3935.1																																																																																				0.398	CARD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211584.3			8	129	0	0	0	1	0	8	129					T	40853136	C	T	40853136	2	4	360	1	0	0	0	0	0	0	0	1	2650	796	28	3		3	CARD6	5	40853136	Silent	SNP	C	TCGA-QU-A6IM-01A-11D-A31L-08		40853136	140062124	23	17992											
DHFR	1719	broad.mit.edu	37	chr5	79933789	79933789	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtaagttttaaggcatcatcTagacttctggaaagaaaatg	15	12	9	5	0	3	2	1	0	2	2	3	3	3	3	0	2	0	3	0	2	6	5			TCGA-QU-A6IM-01A-11D-A31L-08	TCGA-QU-A6IM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c46bdf0-625f-4d00-ae75-b9e83d2fe3ea	84da4992-73f8-4179-bc14-13735496a930	g.chr5:79933789T>C	ENST00000439211.2	-	4	775	c.282A>G	c.(280-282)ctA>ctG	p.L94L	DHFR_ENST00000513048.1_Intron|DHFR_ENST00000505337.1_Silent_p.L94L|DHFR_ENST00000511032.1_Silent_p.L94L|DHFR_ENST00000504396.1_Silent_p.L42L	NM_000791.3	NP_000782.1	P00374	DYR_HUMAN	dihydrofolate reductase	94	DHFR. {ECO:0000255|PROSITE- ProRule:PRU00660}.				folic acid metabolic process (GO:0046655)|G1/S transition of mitotic cell cycle (GO:0000082)|glycine biosynthetic process (GO:0006545)|mitotic cell cycle (GO:0000278)|nitric oxide metabolic process (GO:0046209)|nucleotide biosynthetic process (GO:0009165)|one-carbon metabolic process (GO:0006730)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|response to methotrexate (GO:0031427)|small molecule metabolic process (GO:0044281)|tetrahydrofolate biosynthetic process (GO:0046654)|tetrahydrofolate metabolic process (GO:0046653)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	dihydrofolate reductase activity (GO:0004146)|drug binding (GO:0008144)|mRNA binding (GO:0003729)|NADP binding (GO:0050661)			kidney(1)|large_intestine(1)	2		Lung NSC(167;0.00475)|all_lung(232;0.00502)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;2.69e-46)|Epithelial(54;7.49e-41)|all cancers(79;1.54e-35)	Methotrexate(DB00563)|Pemetrexed(DB00642)|Pralatrexate(DB06813)|Proguanil(DB01131)|Pyrimethamine(DB00205)|Trimethoprim(DB00440)|Trimetrexate(DB01157)	AGGCATCATCTAGACTTCTGG	0.353																																						ENST00000439211.2																			0				kidney(1)|large_intestine(1)	2						c.(280-282)ctA>ctG		dihydrofolate reductase	Dapsone(DB00250)|Dimethyl sulfoxide(DB01093)|Lamotrigine(DB00555)|Methotrexate(DB00563)|NADH(DB00157)|Pemetrexed(DB00642)|Proguanil(DB01131)|Pyrimethamine(DB00205)|Trimethoprim(DB00440)|Trimetrexate(DB01157)						90	92	92					5																	79933789		2143	4285	6428	SO:0001819	synonymous_variant	1719				folic acid metabolic process|glycine biosynthetic process|nucleotide biosynthetic process|one-carbon metabolic process|regulation of transcription involved in G1/S phase of mitotic cell cycle|response to methotrexate|tetrahydrofolate metabolic process	cytosol	dihydrofolate reductase activity|drug binding|folate reductase activity|NADP binding	g.chr5:79933789T>C		CCDS47240.1	5q11.2-q13.2	2012-10-02			ENSG00000228716	ENSG00000228716	1.5.1.3		2861	protein-coding gene	gene with protein product		126060					Standard	XM_005248455		Approved		uc003kgy.1	P00374	OTTHUMG00000162529	ENST00000439211.2:c.282A>G	5.37:g.79933789T>C						DHFR_ENST00000505337.1_Silent_p.L94L|DHFR_ENST00000504396.1_Silent_p.L42L|DHFR_ENST00000511032.1_Silent_p.L94L|DHFR_ENST00000513048.1_Intron	p.L94L	NM_000791.3	NP_000782.1	P00374	DYR_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;2.69e-46)|Epithelial(54;7.49e-41)|all cancers(79;1.54e-35)	4	775	-		Lung NSC(167;0.00475)|all_lung(232;0.00502)|Ovarian(174;0.0261)	94			DHFR.		B4DDD2|Q14130|Q6IRW8	Silent	SNP	ENST00000439211.2	37	c.282A>G	CCDS47240.1																																																																																				0.353	DHFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369450.1	NM_000791		21	52	0	0	0	1	0	21	52					C	79933789	T	C	79933789	2	2	360	1	0	0	0	0	0	0	0	1	4481	1509	53	4		4	DHFR	5	79933789	Silent	SNP	T	TCGA-QU-A6IM-01A-11D-A31L-08	39080653	79933789	100981471	24	17993											
PCDHA5	56143	broad.mit.edu	37	chr5	140201645	140201645	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	atcgaccgggaggagctgtgCcggcggagggcggagtgcag	7	4	21	9	5	0	0	0	0	0	0	1	5	0	4	2	6	3	2	2	6	0	0			TCGA-QU-A6IM-01A-11D-A31L-08	TCGA-QU-A6IM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c46bdf0-625f-4d00-ae75-b9e83d2fe3ea	84da4992-73f8-4179-bc14-13735496a930	g.chr5:140201645C>T	ENST00000529859.1	+	1	285	c.285C>T	c.(283-285)tgC>tgT	p.C95C	PCDHA5_ENST00000378126.3_Silent_p.C95C|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529619.1_Silent_p.C95C|PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000394633.3_Intron	NM_018908.2	NP_061731.1	Q9Y5H7	PCDA5_HUMAN	protocadherin alpha 5	95	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(3)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGGAGCTGTGCCGGCGGAGGG	0.587																																						ENST00000529859.1																			0				NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(3)	60						c.(283-285)tgC>tgT									88	102	97					5																	140201645		2203	4300	6503	SO:0001819	synonymous_variant	0							g.chr5:140201645C>T	AF152483	CCDS54917.1	5q31	2010-11-26				ENSG00000204965		"Cadherins / Protocadherins : Clustered"	8671	other	complex locus constituent	"ortholog of mouse CNR6", "KIAA0345-like 9"	606311		CNRS6		10380929, 10662547	Standard	NM_018908		Approved	CNR6, CRNR6, CNRN6, PCDH-ALPHA5		Q9Y5H7		ENST00000529859.1:c.285C>T	5.37:g.140201645C>T						PCDHA5_ENST00000378126.3_Silent_p.C95C|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Silent_p.C95C|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron	p.C95C	NM_018908.2	NP_061731.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	285	+								O75284|Q8N4R3	Silent	SNP	ENST00000529859.1	37	c.285C>T	CCDS54917.1																																																																																				0.587	PCDHA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372883.2	NM_018908		5	260	0	0	0	1	0	5	260					T	140201645	C	T	140201645	2	4	360	1	0	0	0	0	0	0	0	1	11527	747	26	3		3	PCDHA5	5	140201645	Silent	SNP	C	TCGA-QU-A6IM-01A-11D-A31L-08	60267856	140201645	40713615	25	17994											
DIAPH1	1729	broad.mit.edu	37	chr5	140963116	140963116	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gctgagcagaggcatatcccGcaagcctgacctcaactcct	10	7	9	15	1	1	3	1	2	0	1	3	3	3	3	4	1	3	4	4	1	3	1	rs534491046		TCGA-QU-A6IM-01A-11D-A31L-08	TCGA-QU-A6IM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c46bdf0-625f-4d00-ae75-b9e83d2fe3ea	84da4992-73f8-4179-bc14-13735496a930	g.chr5:140963116G>A	ENST00000398557.4	-	5	609	c.469C>T	c.(469-471)Cgg>Tgg	p.R157W	DIAPH1_ENST00000518047.1_Missense_Mutation_p.R148W|DIAPH1_ENST00000520569.1_Missense_Mutation_p.R103W|DIAPH1_ENST00000389054.3_Missense_Mutation_p.R157W|DIAPH1_ENST00000398562.2_Missense_Mutation_p.R148W|DIAPH1_ENST00000253811.6_Missense_Mutation_p.R157W|DIAPH1_ENST00000398566.3_Missense_Mutation_p.R148W|DIAPH1_ENST00000389057.5_Missense_Mutation_p.R148W	NM_005219.4	NP_005210.3	O60610	DIAP1_HUMAN	diaphanous-related formin 1	157	GBD/FH3. {ECO:0000255|PROSITE- ProRule:PRU00579}.				actin filament polymerization (GO:0030041)|cellular response to histamine (GO:0071420)|cytoskeleton organization (GO:0007010)|positive regulation of cell migration (GO:0030335)|protein localization to microtubule (GO:0035372)|regulation of cell shape (GO:0008360)|regulation of microtubule-based process (GO:0032886)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|mitotic spindle (GO:0072686)|ruffle membrane (GO:0032587)	ion channel binding (GO:0044325)|poly(A) RNA binding (GO:0044822)|receptor binding (GO:0005102)			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(12)|pancreas(1)|skin(2)|stomach(2)	23			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGCATATCCCGCAAGCCTGAC	0.512																																						ENST00000253811.6																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(12)|pancreas(1)|skin(2)|stomach(2)	23						c.(469-471)Cgg>Tgg		diaphanous-related formin 1							108	111	110					5																	140963116		2014	4200	6214	SO:0001583	missense	1729				regulation of microtubule-based process|sensory perception of sound	cytoplasm|cytoskeleton|ruffle membrane	actin binding|receptor binding|Rho GTPase binding	g.chr5:140963116G>A	BC007411		5q31	2013-05-24	2013-05-24		ENSG00000131504	ENSG00000131504			2876	protein-coding gene	gene with protein product		602121	"diaphanous (Drosophila, homolog) 1", "diaphanous homolog 1 (Drosophila)"	DFNA1		9360932, 1350680	Standard	NM_005219		Approved	hDIA1, LFHL1	uc003llb.4	O60610	OTTHUMG00000149893	ENST00000398557.4:c.469C>T	5.37:g.140963116G>A	ENSP00000381565:p.Arg157Trp					DIAPH1_ENST00000518047.1_Missense_Mutation_p.R148W|DIAPH1_ENST00000398557.4_Missense_Mutation_p.R157W|DIAPH1_ENST00000398562.2_Missense_Mutation_p.R148W|DIAPH1_ENST00000398566.3_Missense_Mutation_p.R148W|DIAPH1_ENST00000389054.3_Missense_Mutation_p.R157W|DIAPH1_ENST00000389057.5_Missense_Mutation_p.R148W|DIAPH1_ENST00000520569.1_Missense_Mutation_p.R103W	p.R157W			O60610	DIAP1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		5	609	-			157			GBD/FH3.		A6NF18|B7ZKW2|E9PEZ2|Q17RN4|Q59FH8|Q9UC76	Missense_Mutation	SNP	ENST00000398557.4	37	c.469C>T	CCDS43374.1	.	.	.	.	.	.	.	.	.	.	G	19.47	3.834334	0.71373	.	.	ENSG00000131504	ENST00000389054;ENST00000520569;ENST00000398562;ENST00000389057;ENST00000398566;ENST00000398557;ENST00000253811;ENST00000518047;ENST00000524301	D;D;D;D;D;D;D;D;D	0.87729	-2.29;-2.29;-2.29;-2.29;-2.29;-2.29;-2.29;-2.29;-2.29	5.56	3.57	0.40892	GTPase-binding/formin homology 3 (1);Armadillo-type fold (1);Diaphanous GTPase-binding (1);	0.171760	0.32836	N	0.005598	D	0.88916	0.6567	L	0.44542	1.39	0.35503	D	0.799987	D;D	0.89917	1.0;1.0	D;D	0.69654	0.965;0.965	D	0.91005	0.4845	10	0.66056	D	0.02	.	9.3401	0.38074	0.0:0.1161:0.5492:0.3347	.	148;157	E9PEZ2;O60610	.;DIAP1_HUMAN	W	157;103;148;148;148;157;157;148;103	ENSP00000373706:R157W;ENSP00000429282:R103W;ENSP00000381570:R148W;ENSP00000373709:R148W;ENSP00000381572:R148W;ENSP00000381565:R157W;ENSP00000253811:R157W;ENSP00000428268:R148W;ENSP00000430587:R103W	ENSP00000253811:R157W	R	-	1	2	DIAPH1	140943300	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	0.957000	0.29215	1.340000	0.45581	0.460000	0.39030	CGG		0.512	DIAPH1-203	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		NM_005219		4	131	0	0	0	1	0	4	131					A	140963116	G	A	140963116	3	1	360	1	0	0	0	0	1	0	0	0	4518	1086	38	1	3445	1	DIAPH1	5	140963116	Missense_Mutation	SNP	G	TCGA-QU-A6IM-01A-11D-A31L-08	761471	140963116	39952144	26	17995											
ODZ2	57451	broad.mit.edu	37	chr5	167489162	167489162	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaggggtgttttggaggtcAcaaattcacatcagtcagcc	10	10	11	10	0	4	0	4	0	0	0	4	1	4	1	2	4	1	1	2	4	1	3			TCGA-QU-A6IM-01A-11D-A31L-08	TCGA-QU-A6IM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c46bdf0-625f-4d00-ae75-b9e83d2fe3ea	84da4992-73f8-4179-bc14-13735496a930	g.chr5:167489162A>G	ENST00000518659.1	+	7	1446	c.1407A>G	c.(1405-1407)tcA>tcG	p.S469S	TENM2_ENST00000545108.1_Silent_p.S469S|TENM2_ENST00000520394.1_Silent_p.S237S|TENM2_ENST00000519204.1_Silent_p.S348S|TENM2_ENST00000403607.2_Silent_p.S302S	NM_001122679.1	NP_001116151.1	Q9NT68	TEN2_HUMAN	teneurin transmembrane protein 2	469					axon guidance (GO:0007411)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|heterophilic cell-cell adhesion (GO:0007157)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of filopodium assembly (GO:0051491)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cell-cell junction (GO:0005911)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|endoplasmic reticulum (GO:0005783)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)										TTTGGAGGTCACAAATTCACA	0.498																																						ENST00000519204.1																			0											c.(1042-1044)tcA>tcG		teneurin transmembrane protein 2							118	118	118					5																	167489162		1895	4119	6014	SO:0001819	synonymous_variant	57451							g.chr5:167489162A>G	AB032953		5q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000145934	ENSG00000145934			29943	protein-coding gene	gene with protein product		610119	"odz, odd Oz/ten-m homolog 2 (Drosophila)"	ODZ2		10625539	Standard	NM_001122679		Approved	KIAA1127, Ten-M2	uc010jjd.3	Q9NT68	OTTHUMG00000162928	ENST00000518659.1:c.1407A>G	5.37:g.167489162A>G						TENM2_ENST00000545108.1_Silent_p.S469S|TENM2_ENST00000518659.1_Silent_p.S469S|TENM2_ENST00000403607.2_Silent_p.S302S|TENM2_ENST00000520394.1_Silent_p.S237S	p.S348S							6	1162	+								Q9ULU2	Silent	SNP	ENST00000518659.1	37	c.1044A>G																																																																																					0.498	TENM2-001	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000376096.1	NM_001122679		24	61	0	0	0	1	0	24	61					G	167489162	A	G	167489162	2	3	360	1	0	0	0	0	0	0	0	1	10835	146	6	4		4	ODZ2	5	167489162	Silent	SNP	A	TCGA-QU-A6IM-01A-11D-A31L-08	26526046	167489162	13426098	27	17996											
DOCK2	1794	broad.mit.edu	37	chr5	169508849	169508849	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctgctctccttccagcccTggcgctctcagtggcaggca	4	10	10	17	1	3	0	1	0	3	0	6	0	4	0	3	3	2	4	3	3	0	1			TCGA-QU-A6IM-01A-11D-A31L-08	TCGA-QU-A6IM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c46bdf0-625f-4d00-ae75-b9e83d2fe3ea	84da4992-73f8-4179-bc14-13735496a930	g.chr5:169508849T>A	ENST00000256935.8	+	51	5371	c.5291T>A	c.(5290-5292)cTg>cAg	p.L1764Q	DOCK2_ENST00000520908.1_Missense_Mutation_p.L1256Q|DOCK2_ENST00000523351.1_3'UTR|DOCK2_ENST00000540750.1_Missense_Mutation_p.L825Q	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	1764					actin cytoskeleton organization (GO:0030036)|alpha-beta T cell proliferation (GO:0046633)|chemotaxis (GO:0006935)|establishment of T cell polarity (GO:0001768)|immunological synapse formation (GO:0001771)|macropinocytosis (GO:0044351)|membrane raft polarization (GO:0001766)|myeloid dendritic cell activation involved in immune response (GO:0002277)|negative thymic T cell selection (GO:0045060)|positive regulation of phagocytosis (GO:0050766)|positive thymic T cell selection (GO:0045059)|regulation of defense response to virus by virus (GO:0050690)|small GTPase mediated signal transduction (GO:0007264)|viral process (GO:0016032)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rac GTPase activator activity (GO:0030675)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|T cell receptor binding (GO:0042608)			NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CTTCCAGCCCTGGCGCTCTCA	0.627																																						ENST00000256935.8																			0				NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160						c.(5290-5292)cTg>cAg		dedicator of cytokinesis 2							60	52	55					5																	169508849		2203	4300	6503	SO:0001583	missense	1794				actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding	g.chr5:169508849T>A	BC016996	CCDS4371.1	5q35.1	2008-02-05			ENSG00000134516	ENSG00000134516			2988	protein-coding gene	gene with protein product		603122	"dedicator of cyto-kinesis 2"				Standard	NM_004946		Approved	KIAA0209	uc003maf.3	Q92608	OTTHUMG00000130437	ENST00000256935.8:c.5291T>A	5.37:g.169508849T>A	ENSP00000256935:p.Leu1764Gln					DOCK2_ENST00000520908.1_Missense_Mutation_p.L1256Q|DOCK2_ENST00000523351.1_3'UTR|DOCK2_ENST00000540750.1_Missense_Mutation_p.L825Q	p.L1764Q	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		51	5371	+	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	1764					Q2M3I0|Q96AK7	Missense_Mutation	SNP	ENST00000256935.8	37	c.5291T>A	CCDS4371.1	.	.	.	.	.	.	.	.	.	.	T	15.28	2.786268	0.49997	.	.	ENSG00000134516	ENST00000256935;ENST00000520908;ENST00000540750	T;T;T	0.10477	3.52;3.15;2.87	4.84	4.84	0.62591	.	0.125717	0.36519	N	0.002553	T	0.14657	0.0354	N	0.19112	0.55	0.34676	D	0.724206	D;D;D	0.76494	0.963;0.999;0.963	P;D;P	0.63488	0.692;0.915;0.692	T	0.20075	-1.0286	10	0.12766	T	0.61	.	12.6806	0.56920	0.0:0.0:0.0:1.0	.	1256;320;1764	E7ERW7;B3KY14;Q92608	.;.;DOCK2_HUMAN	Q	1764;1256;825	ENSP00000256935:L1764Q;ENSP00000429283:L1256Q;ENSP00000438827:L825Q	ENSP00000256935:L1764Q	L	+	2	0	DOCK2	169441427	1.000000	0.71417	0.991000	0.47740	0.099000	0.18886	4.161000	0.58170	1.919000	0.55581	0.533000	0.62120	CTG		0.627	DOCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252828.2	NM_004946		17	43	0	0	0	1	0	17	43					A	169508849	T	A	169508849	3	1	360	1	0	0	0	0	1	0	0	0	4687	1580	55	5	5493	5	DOCK2	5	169508849	Missense_Mutation	SNP	T	TCGA-QU-A6IM-01A-11D-A31L-08	2019687	169508849	11406411	28	17997											
KCNIP1	30820	broad.mit.edu	37	chr5	170149724	170149724	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttccccttctcaggactttgTaaccgctctgtcgattttat	6	17	6	12	2	2	0	1	0	2	0	5	2	3	1	3	1	1	2	3	1	2	6			TCGA-QU-A6IM-01A-11D-A31L-08	TCGA-QU-A6IM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c46bdf0-625f-4d00-ae75-b9e83d2fe3ea	84da4992-73f8-4179-bc14-13735496a930	g.chr5:170149724T>A	ENST00000411494.1	+	6	368	c.368T>A	c.(367-369)gTa>gAa	p.V123E	KCNIP1_ENST00000377360.4_Missense_Mutation_p.V121E|KCNIP1_ENST00000434108.1_Missense_Mutation_p.V137E|KCNIP1_ENST00000328939.4_Missense_Mutation_p.V112E|KCNIP1_ENST00000520740.1_Missense_Mutation_p.V84E|KCNIP1_ENST00000390656.4_Missense_Mutation_p.V112E			Q9NZI2	KCIP1_HUMAN	Kv channel interacting protein 1	123	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.				detection of calcium ion (GO:0005513)|positive regulation of action potential (GO:0045760)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|potassium channel complex (GO:0034705)	calcium ion binding (GO:0005509)|potassium channel activity (GO:0005267)|potassium channel regulator activity (GO:0015459)|voltage-gated ion channel activity (GO:0005244)			autonomic_ganglia(1)|large_intestine(7)|lung(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	18	Renal(175;0.000159)|Lung NSC(126;0.0191)|all_lung(126;0.0297)	Medulloblastoma(196;0.0109)|all_neural(177;0.0177)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CAGGACTTTGTAACCGCTCTG	0.428																																						ENST00000328939.4																			0				autonomic_ganglia(1)|large_intestine(7)|lung(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	18						c.(334-336)gTa>gAa		Kv channel interacting protein 1							117	98	105					5																	170149724		2203	4300	6503	SO:0001583	missense	0				detection of calcium ion|signal transduction|synaptic transmission	plasma membrane	potassium channel activity|voltage-gated ion channel activity	g.chr5:170149724T>A	AF199597	CCDS34285.1, CCDS34286.1, CCDS4374.1, CCDS64312.1, CCDS64313.1	5q35	2013-01-10			ENSG00000182132	ENSG00000182132		"EF-hand domain containing"	15521	protein-coding gene	gene with protein product		604660				10676964	Standard	NM_001278339		Approved	KCHIP1	uc003map.3	Q9NZI2	OTTHUMG00000130442	ENST00000411494.1:c.368T>A	5.37:g.170149724T>A	ENSP00000395323:p.Val123Glu					KCNIP1_ENST00000411494.1_Missense_Mutation_p.V123E|KCNIP1_ENST00000377360.4_Missense_Mutation_p.V121E|KCNIP1_ENST00000390656.4_Missense_Mutation_p.V112E|KCNIP1_ENST00000520740.1_Missense_Mutation_p.V84E|KCNIP1_ENST00000434108.1_Missense_Mutation_p.V137E	p.V112E	NM_001034837.1|NM_014592.2	NP_001030009.1|NP_055407.1	Q9NZI2	KCIP1_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		5	872	+	Renal(175;0.000159)|Lung NSC(126;0.0191)|all_lung(126;0.0297)	Medulloblastoma(196;0.0109)|all_neural(177;0.0177)	123			EF-hand 2.		B7Z7B4|Q3YAD0|Q3YAD1|Q3YAD2|Q3YAD3|Q5U822	Missense_Mutation	SNP	ENST00000411494.1	37	c.335T>A	CCDS34286.1	.	.	.	.	.	.	.	.	.	.	T	25.2	4.616556	0.87359	.	.	ENSG00000182132	ENST00000377360;ENST00000328939;ENST00000390656;ENST00000520740;ENST00000434108;ENST00000411494	T;T;T;T;T;T	0.80304	-1.36;-1.36;-1.36;-1.36;-1.36;-1.36	5.64	5.64	0.86602	EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	D	0.92130	0.7505	H	0.94808	3.585	0.80722	D	1	D;D;D;D	0.76494	0.999;0.998;0.998;0.998	D;D;D;D	0.78314	0.991;0.976;0.982;0.982	D	0.94017	0.7289	9	.	.	.	.	13.8234	0.63336	0.0:0.0:0.0:1.0	.	137;112;123;121	Q3YAD0;Q3YAD2;Q9NZI2;Q3YAD3	.;.;KCIP1_HUMAN;.	E	121;112;112;84;137;123	ENSP00000366577:V121E;ENSP00000329686:V112E;ENSP00000375071:V112E;ENSP00000431102:V84E;ENSP00000414886:V137E;ENSP00000395323:V123E	.	V	+	2	0	KCNIP1	170082302	1.000000	0.71417	0.996000	0.52242	0.993000	0.82548	7.680000	0.84062	2.144000	0.66660	0.533000	0.62120	GTA		0.428	KCNIP1-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000371760.1			7	35	0	0	0	1	0	7	35					A	170149724	T	A	170149724	3	1	360	1	0	0	0	0	1	0	0	0	8039	1638	57	5	482	5	KCNIP1	5	170149724	Missense_Mutation	SNP	T	TCGA-QU-A6IM-01A-11D-A31L-08	640875	170149724	10765536	29	17998											
VARS	7407	broad.mit.edu	37	chr6	31747573	31747573	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cacctggtccaccccattcaGtacaggtttcaggcactcct	8	10	7	16	0	2	0	2	0	0	0	4	0	4	0	5	3	1	3	5	3	1	3			TCGA-QU-A6IM-01A-11D-A31L-08	TCGA-QU-A6IM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c46bdf0-625f-4d00-ae75-b9e83d2fe3ea	84da4992-73f8-4179-bc14-13735496a930	g.chr6:31747573G>C	ENST00000375663.3	-	27	3540	c.3100C>G	c.(3100-3102)Ctg>Gtg	p.L1034V	Y_RNA_ENST00000364685.1_RNA|VARS_ENST00000482996.1_5'Flank|VWA7_ENST00000447450.1_5'Flank|VWA7_ENST00000375686.3_5'Flank|VWA7_ENST00000467576.1_5'Flank|VWA7_ENST00000375688.4_5'Flank	NM_006295.2	NP_006286.1	P26640	SYVC_HUMAN	valyl-tRNA synthetase	1034					gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)|valyl-tRNA aminoacylation (GO:0006438)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|valine-tRNA ligase activity (GO:0004832)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	30					L-Valine(DB00161)	ACCCCATTCAGTACAGGTTTC	0.622																																						ENST00000375663.3																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	30						c.(3100-3102)Ctg>Gtg		valyl-tRNA synthetase	L-Valine(DB00161)						55	45	48					6																	31747573		1510	2708	4218	SO:0001583	missense	7407				translational elongation|valyl-tRNA aminoacylation	cytosol	ATP binding|protein binding|valine-tRNA ligase activity	g.chr6:31747573G>C	BC012808	CCDS34412.1	6p21.3	2011-07-01		2005-07-05	ENSG00000204394	ENSG00000204394	6.1.1.9	"Aminoacyl tRNA synthetases / Class I"	12651	protein-coding gene	gene with protein product	"valine tRNA ligase 1, cytoplasmic"	192150	"valyl-tRNA synthetase 2"	VARS2		15779907	Standard	XM_005249362		Approved		uc003nxe.3	P26640	OTTHUMG00000031286	ENST00000375663.3:c.3100C>G	6.37:g.31747573G>C	ENSP00000364815:p.Leu1034Val						p.L1034V	NM_006295.2	NP_006286.1	P26640	SYVC_HUMAN			27	3540	-			1034					B0V1N1|B4DZ61|Q5JQ90|Q96E77|Q9UQM2	Missense_Mutation	SNP	ENST00000375663.3	37	c.3100C>G	CCDS34412.1	.	.	.	.	.	.	.	.	.	.	G	9.487	1.099691	0.20552	.	.	ENSG00000204394	ENST00000375663	T	0.19250	2.16	5.29	5.29	0.74685	Valyl/Leucyl/Isoleucyl-tRNA synthetase, class I, anticodon-binding (1);Aminoacyl-tRNA synthetase, class 1a, anticodon-binding (1);	0.060570	0.64402	D	0.000003	T	0.09862	0.0242	L	0.50993	1.605	0.32124	N	0.587678	B	0.30361	0.277	B	0.28305	0.088	T	0.08166	-1.0735	10	0.56958	D	0.05	-12.1269	9.9582	0.41680	0.0924:0.0:0.9076:0.0	.	1034	P26640	SYVC_HUMAN	V	1034	ENSP00000364815:L1034V	ENSP00000364815:L1034V	L	-	1	2	VARS	31855552	1.000000	0.71417	0.956000	0.39512	0.339000	0.28857	2.540000	0.45727	2.497000	0.84241	0.455000	0.32223	CTG		0.622	VARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076619.2	NM_006295		5	40	0	0	0	1	0	5	40					C	31747573	G	C	31747573	3	2	360	1	0	0	0	0	1	0	0	0	17120	1020	36	5	710	5	VARS	6	31747573	Missense_Mutation	SNP	G	TCGA-QU-A6IM-01A-11D-A31L-08		31747573	139367494	30	17999											
KCNK5	8645	broad.mit.edu	37	chr6	39163706	39163706	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcattgggccagttccagtTgttgaaggtctggttccctg	5	14	13	9	0	1	1	0	1	1	0	3	1	3	1	3	3	1	5	3	3	1	5			TCGA-QU-A6IM-01A-11D-A31L-08	TCGA-QU-A6IM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c46bdf0-625f-4d00-ae75-b9e83d2fe3ea	84da4992-73f8-4179-bc14-13735496a930	g.chr6:39163706T>A	ENST00000359534.3	-	2	582	c.244A>T	c.(244-246)Aac>Tac	p.N82Y		NM_003740.3	NP_003731.1	O95279	KCNK5_HUMAN	potassium channel, subfamily K, member 5	82					excretion (GO:0007588)|potassium ion transport (GO:0006813)	integral component of plasma membrane (GO:0005887)	potassium channel activity (GO:0005267)|voltage-gated ion channel activity (GO:0005244)			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(4)|skin(3)	19						CAGTTCCAGTTGTTGAAGGTC	0.502																																						ENST00000359534.3																			0				central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(4)|skin(3)	19						c.(244-246)Aac>Tac		potassium channel, subfamily K, member 5							175	150	159					6																	39163706		2203	4300	6503	SO:0001583	missense	8645				excretion	integral to plasma membrane	potassium channel activity|voltage-gated ion channel activity	g.chr6:39163706T>A	AF084830	CCDS4841.1	6p21	2012-03-07			ENSG00000164626	ENSG00000164626		"Potassium channels", "Voltage-gated ion channels / Potassium channels, Two-P"	6280	protein-coding gene	gene with protein product		603493				9812978, 16382106	Standard	XM_005249456		Approved	K2p5.1, TASK-2	uc003oon.3	O95279	OTTHUMG00000014642	ENST00000359534.3:c.244A>T	6.37:g.39163706T>A	ENSP00000352527:p.Asn82Tyr						p.N82Y	NM_003740.3	NP_003731.1	O95279	KCNK5_HUMAN			2	582	-			82					B2RAQ6|B5TJL2|Q5VV76	Missense_Mutation	SNP	ENST00000359534.3	37	c.244A>T	CCDS4841.1	.	.	.	.	.	.	.	.	.	.	T	16.85	3.236512	0.58886	.	.	ENSG00000164626	ENST00000359534	T	0.23348	1.91	5.47	5.47	0.80525	Ion transport 2 (1);	0.089879	0.85682	D	0.000000	T	0.15262	0.0368	L	0.53617	1.68	0.80722	D	1	B	0.29671	0.254	B	0.31686	0.134	T	0.03863	-1.0997	10	0.56958	D	0.05	.	11.5938	0.50962	0.1333:0.0:0.0:0.8667	.	82	O95279	KCNK5_HUMAN	Y	82	ENSP00000352527:N82Y	ENSP00000352527:N82Y	N	-	1	0	KCNK5	39271684	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.639000	0.67868	2.200000	0.70718	0.459000	0.35465	AAC		0.502	KCNK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040449.1	NM_003740		17	19	0	0	0	1	0	17	19					A	39163706	T	A	39163706	3	1	360	1	0	0	0	0	1	0	0	0	8069	1812	63	5	1271	5	KCNK5	6	39163706	Missense_Mutation	SNP	T	TCGA-QU-A6IM-01A-11D-A31L-08	7416133	39163706	131951361	31	18000											
UBR2	23304	broad.mit.edu	37	chr6	42657359	42657359	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gcaaaaccaaaggctgttttTattctcctccttaccttgat	10	15	5	11	0	1	1	0	1	1	0	3	1	2	1	4	1	2	3	4	1	5	6			TCGA-QU-A6IM-01A-11D-A31L-08	TCGA-QU-A6IM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c46bdf0-625f-4d00-ae75-b9e83d2fe3ea	84da4992-73f8-4179-bc14-13735496a930	g.chr6:42657359T>G	ENST00000372899.1	+	46	5335	c.5077T>G	c.(5077-5079)Tat>Gat	p.Y1693D	UBR2_ENST00000372883.3_3'UTR|UBR2_ENST00000372901.1_Missense_Mutation_p.Y1693D	NM_015255.2	NP_056070.1	Q8IWV8	UBR2_HUMAN	ubiquitin protein ligase E3 component n-recognin 2	1693					cellular response to leucine (GO:0071233)|chromatin silencing (GO:0006342)|histone H2A ubiquitination (GO:0033522)|male meiosis I (GO:0007141)|negative regulation of TOR signaling (GO:0032007)|spermatogenesis (GO:0007283)|ubiquitin-dependent protein catabolic process (GO:0006511)	chromatin (GO:0000785)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ubiquitin ligase complex (GO:0000151)	leucine binding (GO:0070728)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(10)|kidney(7)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|skin(5)	64	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.004)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.196)			AGGCTGTTTTTATTCTCCTCC	0.468																																						ENST00000372901.1																			0				breast(1)|central_nervous_system(1)|endometrium(10)|kidney(7)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|skin(5)	64						c.(5077-5079)Tat>Gat		ubiquitin protein ligase E3 component n-recognin 2							382	384	383					6																	42657359		2203	4300	6503	SO:0001583	missense	23304				cellular response to leucine|chromatin silencing|histone H2A ubiquitination|negative regulation of TOR signaling cascade	nucleus|plasma membrane	leucine binding|zinc ion binding	g.chr6:42657359T>G	BC024217	CCDS4870.1, CCDS55001.1	6p21.1	2008-06-23	2005-01-10	2005-01-12	ENSG00000024048	ENSG00000024048		"Ubiquitin protein ligase E3 component n-recognins"	21289	protein-coding gene	gene with protein product		609134	"chromosome 6 open reading frame 133"	C6orf133			Standard	NM_015255		Approved	bA49A4.1, dJ392M17.3, KIAA0349	uc011dur.2	Q8IWV8	OTTHUMG00000014703	ENST00000372899.1:c.5077T>G	6.37:g.42657359T>G	ENSP00000361990:p.Tyr1693Asp					UBR2_ENST00000372883.3_3'UTR|UBR2_ENST00000372899.1_Missense_Mutation_p.Y1693D	p.Y1693D			Q8IWV8	UBR2_HUMAN	Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.004)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.196)		46	5335	+	Colorectal(47;0.196)		1693					O15057|Q4VXK2|Q5TFH6|Q6P2I2|Q6ZUD0	Missense_Mutation	SNP	ENST00000372899.1	37	c.5077T>G	CCDS4870.1	.	.	.	.	.	.	.	.	.	.	T	27.8	4.862462	0.91511	.	.	ENSG00000024048	ENST00000372899;ENST00000372901	T;T	0.50548	0.74;0.74	5.47	5.47	0.80525	.	0.000000	0.85682	D	0.000000	T	0.65491	0.2696	M	0.84219	2.685	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.994	D;D;P	0.91635	0.995;0.999;0.837	T	0.71708	-0.4511	10	0.62326	D	0.03	-29.3062	15.5568	0.76200	0.0:0.0:0.0:1.0	.	281;1693;1693	B3KXG6;Q8IWV8-4;Q8IWV8	.;.;UBR2_HUMAN	D	1693	ENSP00000361990:Y1693D;ENSP00000361992:Y1693D	ENSP00000361990:Y1693D	Y	+	1	0	UBR2	42765337	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.040000	0.89188	2.073000	0.62155	0.455000	0.32223	TAT		0.468	UBR2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040558.2	NM_015255		128	302	0	0	0	1	0	128	302					G	42657359	T	G	42657359	3	3	360	1	0	0	0	0	1	0	0	0	16899	1754	61	5	5405	5	UBR2	6	42657359	Missense_Mutation	SNP	T	TCGA-QU-A6IM-01A-11D-A31L-08	3493653	42657359	128457708	32	18001											
C6orf138	442213	broad.mit.edu	37	chr6	47847438	47847438	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agccaaagaaggagaaaatgTagaagtagttcaacagaata	21	6	10	4	0	1	4	1	0	0	4	1	5	1	4	1	1	2	3	1	1	10	4			TCGA-QU-A6IM-01A-11D-A31L-08	TCGA-QU-A6IM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c46bdf0-625f-4d00-ae75-b9e83d2fe3ea	84da4992-73f8-4179-bc14-13735496a930	g.chr6:47847438T>A	ENST00000339488.4	-	3	1175	c.1142A>T	c.(1141-1143)tAc>tTc	p.Y381F		NM_001013732.3	NP_001013754.3	Q6ZW05	PTHD4_HUMAN	patched domain containing 4	381	SSD. {ECO:0000255|PROSITE- ProRule:PRU00199}.					integral component of membrane (GO:0016021)	hedgehog receptor activity (GO:0008158)										GGAGAAAATGTAGAAGTAGTT	0.448																																						ENST00000339488.4																			0											c.(1141-1143)tAc>tTc		patched domain containing 4							81	79	80					6																	47847438		2203	4300	6503	SO:0001583	missense	442213					integral to membrane	hedgehog receptor activity	g.chr6:47847438T>A		CCDS34473.2	6p12.3	2012-02-06	2012-02-06	2012-02-06	ENSG00000244694	ENSG00000244694			21345	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 138"	C6orf138			Standard	NM_001013732		Approved	dJ402H5.2, FLJ41841	uc011dwm.2	Q6ZW05	OTTHUMG00000150404	ENST00000339488.4:c.1142A>T	6.37:g.47847438T>A	ENSP00000341914:p.Tyr381Phe						p.Y381F	NM_001013732.3	NP_001013754.3	Q6ZW05	CF138_HUMAN			3	1175	-			381			SSD.		B0QZ29|B4DRK3|Q5T884	Missense_Mutation	SNP	ENST00000339488.4	37	c.1142A>T	CCDS34473.2	.	.	.	.	.	.	.	.	.	.	T	13.70	2.314418	0.40996	.	.	ENSG00000244694	ENST00000339488	D	0.90133	-2.62	5.01	5.01	0.66863	Sterol-sensing domain (1);	0.000000	0.85682	D	0.000000	D	0.85813	0.5784	L	0.41961	1.31	0.80722	D	1	P	0.42296	0.775	P	0.46758	0.526	D	0.85399	0.1130	10	0.32370	T	0.25	.	14.738	0.69430	0.0:0.0:0.0:1.0	.	381	Q6ZW05	CF138_HUMAN	F	381	ENSP00000341914:Y381F	ENSP00000341914:Y381F	Y	-	2	0	C6orf138	47955397	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.972000	0.70448	1.895000	0.54865	0.528000	0.53228	TAC		0.448	PTCHD4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317987.2	NM_001013732		15	26	0	0	0	1	0	15	26					A	47847438	T	A	47847438	3	1	360	1	0	0	0	0	1	0	0	0	2332	1638	57	5	1402	5	C6orf138	6	47847438	Missense_Mutation	SNP	T	TCGA-QU-A6IM-01A-11D-A31L-08	5190079	47847438	123267629	33	18002											
PHIP	55023	broad.mit.edu	37	chr6	79770385	79770385	+	Splice_Site	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctatgagaaaattttcatacTtttatttgtgcgtagtaaag	13	17	7	4	1	1	1	1	1	0	1	1	2	1	1	0	0	2	2	0	0	8	9			TCGA-QU-A6IM-01A-11D-A31L-08	TCGA-QU-A6IM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c46bdf0-625f-4d00-ae75-b9e83d2fe3ea	84da4992-73f8-4179-bc14-13735496a930	g.chr6:79770385T>A	ENST00000275034.4	-	5	507	c.340A>T	c.(340-342)Agc>Tgc	p.S114C		NM_017934.5	NP_060404	Q8WWQ0	PHIP_HUMAN	pleckstrin homology domain interacting protein	114					cytoskeleton organization (GO:0007010)|insulin receptor signaling pathway (GO:0008286)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of mitosis (GO:0045840)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein import into nucleus (GO:0006606)|regulation of cell morphogenesis (GO:0022604)|regulation of growth (GO:0040008)|regulation of protein phosphorylation (GO:0001932)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	insulin receptor binding (GO:0005158)|lysine-acetylated histone binding (GO:0070577)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(10)|kidney(4)|large_intestine(20)|lung(20)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	68		all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219)		BRCA - Breast invasive adenocarcinoma(397;0.231)		ATTTTCATACTTTTATTTGTG	0.333																																						ENST00000275034.4																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(10)|kidney(4)|large_intestine(20)|lung(20)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	68						c.e5+1		pleckstrin homology domain interacting protein							56	61	59					6																	79770385		2203	4299	6502	SO:0001630	splice_region_variant	55023				insulin receptor signaling pathway|negative regulation of apoptosis|positive regulation of cell proliferation|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of mitosis	nucleus	insulin receptor binding	g.chr6:79770385T>A	AF310250	CCDS4987.1	6q14	2013-01-09			ENSG00000146247	ENSG00000146247		"WD repeat domain containing", "DDB1 and CUL4 associated factors"	15673	protein-coding gene	gene with protein product	"DDB1 and CUL4 associated factor 14"	612870		WDR11		11018022	Standard	NM_017934		Approved	ndrp, FLJ20705, DCAF14, BRWD2	uc003pir.3	Q8WWQ0	OTTHUMG00000015071	ENST00000275034.4:c.340+1A>T	6.37:g.79770385T>A							p.S114_splice	NM_017934.5	NP_060404.3	Q8WWQ0	PHIP_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.231)	5	507	-		all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219)	114					A7J992|B2RPK4|Q05CQ9|Q5VVH4|Q66I29|Q69YV1|Q8NBZ5|Q96H52|Q96ME2|Q9H261	Splice_Site	SNP	ENST00000275034.4	37	c.340_splice	CCDS4987.1	.	.	.	.	.	.	.	.	.	.	T	20.3	3.962615	0.74016	.	.	ENSG00000146247	ENST00000275034	T	0.17691	2.26	5.88	5.88	0.94601	.	0.000000	0.85682	D	0.000000	T	0.25121	0.0610	M	0.64404	1.975	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.70716	0.97;0.97	T	0.02698	-1.1122	9	.	.	.	-11.7944	9.8669	0.41150	0.0:0.076:0.0:0.924	.	114;114	A7J992;Q8WWQ0	.;PHIP_HUMAN	C	114	ENSP00000275034:S114C	.	S	-	1	0	PHIP	79827104	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	7.499000	0.81566	2.245000	0.73994	0.482000	0.46254	AGC		0.333	PHIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041297.2		Missense_Mutation	7	53	0	0	0	1	0	7	53					A	79770385	T	A	79770385	5	1	360	1	0	0	0	0	0	0	1	0	11842	1623	56	5	5269	5	PHIP	6	79770385	Splice_Site	SNP	T	TCGA-QU-A6IM-01A-11D-A31L-08	31922947	79770385	91344682	34	18003											
ME1	4199	broad.mit.edu	37	chr6	84140595	84140595	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	caggtgggcctgcgggtttaCcttgttgaggtgagggttcc	4	12	17	8	1	0	2	0	2	0	0	1	2	1	2	3	5	2	3	3	5	1	5			TCGA-QU-A6IM-01A-11D-A31L-08	TCGA-QU-A6IM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c46bdf0-625f-4d00-ae75-b9e83d2fe3ea	84da4992-73f8-4179-bc14-13735496a930	g.chr6:84140595C>T	ENST00000369705.3	-	1	195		c.e1+1		ME1_ENST00000543031.1_Splice_Site|ME1_ENST00000541327.1_Splice_Site	NM_002395.4	NP_002386.1	P48163	MAOX_HUMAN	malic enzyme 1, NADP(+)-dependent, cytosolic						carbohydrate metabolic process (GO:0005975)|cellular lipid metabolic process (GO:0044255)|malate metabolic process (GO:0006108)|NADP biosynthetic process (GO:0006741)|protein tetramerization (GO:0051262)|response to carbohydrate (GO:0009743)|response to hormone (GO:0009725)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	ADP binding (GO:0043531)|electron carrier activity (GO:0009055)|malate dehydrogenase (decarboxylating) (NAD+) activity (GO:0004471)|malate dehydrogenase (decarboxylating) (NADP+) activity (GO:0004473)|malic enzyme activity (GO:0004470)|manganese ion binding (GO:0030145)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|oxaloacetate decarboxylase activity (GO:0008948)			NS(2)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36		all_cancers(76;1.28e-06)|Acute lymphoblastic leukemia(125;5.03e-07)|all_hematologic(105;0.000238)|all_epithelial(107;0.00218)		BRCA - Breast invasive adenocarcinoma(397;0.0641)		TGCGGGTTTACCTTGTTGAGG	0.716																																						ENST00000369705.3																			0				NS(2)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						c.e1+1		malic enzyme 1, NADP(+)-dependent, cytosolic	NADH(DB00157)						45	39	41					6																	84140595		2202	4298	6500	SO:0001630	splice_region_variant	4199				carbohydrate metabolic process|cellular lipid metabolic process|malate metabolic process|NADP biosynthetic process|response to carbohydrate stimulus|response to hormone stimulus	cytosol	ADP binding|electron carrier activity|malate dehydrogenase (oxaloacetate-decarboxylating) (NADP+) activity|manganese ion binding|NAD binding|NADP binding	g.chr6:84140595C>T	X77244	CCDS34492.1	6q12	2012-10-02			ENSG00000065833	ENSG00000065833	1.1.1.40		6983	protein-coding gene	gene with protein product		154250				8187880	Standard	NM_002395		Approved		uc003pjy.3	P48163	OTTHUMG00000015111	ENST00000369705.3:c.78+1G>A	6.37:g.84140595C>T						ME1_ENST00000543031.1_Splice_Site|ME1_ENST00000541327.1_Splice_Site		NM_002395.4	NP_002386.1	P48163	MAOX_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.0641)	1	195	-		all_cancers(76;1.28e-06)|Acute lymphoblastic leukemia(125;5.03e-07)|all_hematologic(105;0.000238)|all_epithelial(107;0.00218)						B4DZ70|Q16797|Q16855|Q53F72|Q5VWA2|Q9BWX8|Q9H1W3|Q9UIY4	Splice_Site	SNP	ENST00000369705.3	37		CCDS34492.1	.	.	.	.	.	.	.	.	.	.	C	9.814	1.183834	0.21870	.	.	ENSG00000065833	ENST00000369705	.	.	.	2.54	2.54	0.30619	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.5929	0.33699	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ME1	84197314	0.997000	0.39634	0.699000	0.30290	0.264000	0.26372	2.389000	0.44407	1.422000	0.47177	0.313000	0.20887	.		0.716	ME1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041350.1		Intron	6	19	0	0	0	1	0	6	19					T	84140595	C	T	84140595	5	4	360	1	0	0	0	0	0	0	1	0	9417	521	18	3	1695	3	ME1	6	84140595	Splice_Site	SNP	C	TCGA-QU-A6IM-01A-11D-A31L-08	4370210	84140595	86974472	35	18004											
EPHA7	2045	broad.mit.edu	37	chr6	94066494	94066494	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tctgggatcggcttaagtcaGaaactccatttacagcttca	11	12	8	10	1	3	1	2	0	1	1	5	2	4	2	1	2	3	2	1	2	3	4			TCGA-QU-A6IM-01A-11D-A31L-08	TCGA-QU-A6IM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c46bdf0-625f-4d00-ae75-b9e83d2fe3ea	84da4992-73f8-4179-bc14-13735496a930	g.chr6:94066494G>C	ENST00000369303.4	-	5	1449	c.1265C>G	c.(1264-1266)tCt>tGt	p.S422C		NM_004440.3	NP_004431.1	Q15375	EPHA7_HUMAN	EPH receptor A7	422	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				brain development (GO:0007420)|branching morphogenesis of a nerve (GO:0048755)|ephrin receptor signaling pathway (GO:0048013)|negative chemotaxis (GO:0050919)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of neuron apoptotic process (GO:0043525)|regulation of cell-cell adhesion (GO:0022407)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|regulation of protein autophosphorylation (GO:0031952)|retinal ganglion cell axon guidance (GO:0031290)	dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|chemorepellent activity (GO:0045499)|GPI-linked ephrin receptor activity (GO:0005004)|protein tyrosine kinase activity (GO:0004713)			NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)		BRCA - Breast invasive adenocarcinoma(108;0.0847)		GCTTAAGTCAGAAACTCCATT	0.433																																						ENST00000369303.4																			0				NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112						c.(1264-1266)tCt>tGt		EPH receptor A7							115	114	114					6																	94066494		2203	4300	6503	SO:0001583	missense	2045					integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr6:94066494G>C	L36642	CCDS5031.1, CCDS75494.1	6q16.3	2013-02-11	2004-10-28		ENSG00000135333	ENSG00000135333		"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3390	protein-coding gene	gene with protein product		602190	"EphA7"			9267020	Standard	NM_004440		Approved	Hek11	uc003poe.3	Q15375	OTTHUMG00000015228	ENST00000369303.4:c.1265C>G	6.37:g.94066494G>C	ENSP00000358309:p.Ser422Cys						p.S422C	NM_004440.3	NP_004431.1	Q15375	EPHA7_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0847)	5	1449	-		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)	422			Fibronectin type-III 1.		A0AUX7|B2R8W1|B7ZLJ9|B7ZLK0|Q59G40|Q5VTU0|Q8N368|Q9H124	Missense_Mutation	SNP	ENST00000369303.4	37	c.1265C>G	CCDS5031.1	.	.	.	.	.	.	.	.	.	.	G	25.3	4.625177	0.87560	.	.	ENSG00000135333	ENST00000369303	T	0.54675	0.56	5.85	5.85	0.93711	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.055071	0.85682	D	0.000000	T	0.77219	0.4098	M	0.91561	3.22	0.80722	D	1	D;D;D	0.89917	0.969;1.0;1.0	P;D;D	0.77557	0.627;0.983;0.99	T	0.81413	-0.0944	10	0.87932	D	0	.	20.1606	0.98132	0.0:0.0:1.0:0.0	.	422;422;422	Q15375-4;Q15375-2;Q15375	.;.;EPHA7_HUMAN	C	422	ENSP00000358309:S422C	ENSP00000358309:S422C	S	-	2	0	EPHA7	94123215	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.835000	0.99442	2.772000	0.95346	0.650000	0.86243	TCT		0.433	EPHA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041545.1			14	59	0	0	0	1	0	14	59					C	94066494	G	C	94066494	3	2	360	1	0	0	0	0	1	0	0	0	5172	942	33	5	1783	5	EPHA7	6	94066494	Missense_Mutation	SNP	G	TCGA-QU-A6IM-01A-11D-A31L-08	9925899	94066494	77048573	36	18005											
TAAR9	134860	broad.mit.edu	37	chr6	132860433	132860433	+	RNA	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaggtcttaaggactgattcGtcaacaactaatttattttc	13	15	6	7	1	2	1	1	1	1	0	4	2	2	2	0	2	2	0	0	2	6	7	rs370306299		TCGA-QU-A6IM-01A-11D-A31L-08	TCGA-QU-A6IM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c46bdf0-625f-4d00-ae75-b9e83d2fe3ea	84da4992-73f8-4179-bc14-13735496a930	g.chr6:132860433G>A	ENST00000434551.1	+	0	1005					NM_175057.3	NP_778227.3	Q96RI9	TAAR9_HUMAN	trace amine associated receptor 9 (gene/pseudogene)						G-protein coupled receptor signaling pathway (GO:0007186)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|trace-amine receptor activity (GO:0001594)					Breast(56;0.112)			OV - Ovarian serous cystadenocarcinoma(155;0.0042)|GBM - Glioblastoma multiforme(226;0.00816)		GGACTGATTCGTCAACAACTA	0.328													g|||	1	0.000199681	0	0	5008	,	,		19283	0.001		0	False		,,,				2504	0				Colon(10;433 445 15992 45047 47213)	ENST00000434551.1																			0													trace amine associated receptor 9 (gene/pseudogene)							51	45	47					6																	132860433		1830	4084	5914			134860					plasma membrane	G-protein coupled receptor activity	g.chr6:132860433G>A	AF380189	CCDS75520.1	6q23.2	2013-10-02	2010-03-12	2005-02-24	ENSG00000237110	ENSG00000237110		"GPCR / Class A : Trace amine associated receptors"	20977	protein-coding gene	gene with protein product		608282	"trace amine receptor 3", "trace amine associated receptor 9"	TRAR3		15718104	Standard	NM_175057		Approved	TA3, TAR3	uc011eci.2	Q96RI9	OTTHUMG00000015578		6.37:g.132860433G>A								NM_175057.3	NP_778227.3	Q96RI9	TAAR9_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.0042)|GBM - Glioblastoma multiforme(226;0.00816)	0	1005	+	Breast(56;0.112)								RNA	SNP	ENST00000434551.1	37																																																																																						0.328	TAAR9-001	KNOWN	mRNA_end_NF|cds_end_NF|basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000042254.2	NM_175057		7	19	0	0	0	1	0	7	19					A	132860433	G	A	132860433	1	1	360	0	1	0	0	0	0	0	0	0	15491	1132	40	1		1	TAAR9	6	132860433	RNA	SNP	G	TCGA-QU-A6IM-01A-11D-A31L-08	38793939	132860433	38254634	37	18006											
TRA2A	29896	broad.mit.edu	37	chr7	23556149	23556149	+	Splice_Site	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atgtctccttgacctcgaccTttgagagaaatacatttagg	11	13	8	9	1	1	3	0	2	1	1	3	5	1	3	3	1	1	0	3	1	3	5			TCGA-QU-A6IM-01A-11D-A31L-08	TCGA-QU-A6IM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c46bdf0-625f-4d00-ae75-b9e83d2fe3ea	84da4992-73f8-4179-bc14-13735496a930	g.chr7:23556149T>A	ENST00000297071.4	-	3	387		c.e3-2		TRA2A_ENST00000392502.4_Splice_Site|TRA2A_ENST00000538367.1_Splice_Site|TRA2A_ENST00000474586.1_Splice_Site	NM_013293.3	NP_037425.1	Q13595	TRA2A_HUMAN	transformer 2 alpha homolog (Drosophila)						mRNA splicing, via spliceosome (GO:0000398)	intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	10						GACCTCGACCTTTGAGAGAAA	0.408																																					Pancreas(121;2137 2973 46590)	ENST00000297071.4																			0				endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	10						c.e3-2		transformer 2 alpha homolog (Drosophila)							106	95	98					7																	23556149		2203	4300	6503	SO:0001630	splice_region_variant	29896				nuclear mRNA splicing, via spliceosome	nucleus	nucleotide binding|RNA binding	g.chr7:23556149T>A	U53209	CCDS5383.1, CCDS64609.1, CCDS75569.1	7p15.3	2014-02-12			ENSG00000164548	ENSG00000164548		"RNA binding motif (RRM) containing"	16645	protein-coding gene	gene with protein product		602718				8799144, 9546399	Standard	XM_005249725		Approved	htra-2-alpha, tra2a, AWMS1	uc003swi.3	Q13595	OTTHUMG00000128459	ENST00000297071.4:c.171-2A>T	7.37:g.23556149T>A						TRA2A_ENST00000538367.1_Splice_Site|TRA2A_ENST00000474586.1_Splice_Site|TRA2A_ENST00000392502.4_Splice_Site		NM_013293.3	NP_037425.1	Q13595	TRA2A_HUMAN			3	387	-								B4DUA9	Splice_Site	SNP	ENST00000297071.4	37		CCDS5383.1	.	.	.	.	.	.	.	.	.	.	T	23.6	4.435335	0.83885	.	.	ENSG00000164548	ENST00000297071	.	.	.	5.81	5.81	0.92471	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.2204	0.82255	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	TRA2A	23522674	1.000000	0.71417	0.998000	0.56505	0.897000	0.52465	5.747000	0.68689	2.236000	0.73375	0.333000	0.21579	.		0.408	TRA2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250257.1	NM_013293	Intron	30	28	0	0	0	1	0	30	28					A	23556149	T	A	23556149	5	1	360	1	0	0	0	0	0	0	1	0	16430	1623	56	5	703	5	TRA2A	7	23556149	Splice_Site	SNP	T	TCGA-QU-A6IM-01A-11D-A31L-08		23556149	135582514	38	18007											
ZNF679	168417	broad.mit.edu	37	chr7	63721228	63721228	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acaggtattgctgtctctaaGccagacttgatcacctgtct	9	13	8	11	0	3	2	1	1	2	1	4	2	3	2	2	1	2	2	2	1	2	4			TCGA-QU-A6IM-01A-11D-A31L-08	TCGA-QU-A6IM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c46bdf0-625f-4d00-ae75-b9e83d2fe3ea	84da4992-73f8-4179-bc14-13735496a930	g.chr7:63721228G>C	ENST00000421025.1	+	4	452	c.183G>C	c.(181-183)aaG>aaC	p.K61N	ZNF679_ENST00000255746.4_Missense_Mutation_p.K61N	NM_001159524.1|NM_153363.2	NP_001152996.1|NP_699194.2	Q8IYX0	ZN679_HUMAN	zinc finger protein 679	61	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(2)|kidney(3)|lung(11)|skin(1)|stomach(1)	18						CTGTCTCTAAGCCAGACTTGA	0.353																																						ENST00000421025.1																			0				endometrium(2)|kidney(3)|lung(11)|skin(1)|stomach(1)	18						c.(181-183)aaG>aaC		zinc finger protein 679							100	87	91					7																	63721228		692	1591	2283	SO:0001583	missense	168417				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:63721228G>C	BC033523	CCDS47592.1	7q11.21	2013-01-08			ENSG00000197123	ENSG00000197123		"Zinc fingers, C2H2-type", "-"	28650	protein-coding gene	gene with protein product	"hypothetical protein MGC42415"					12477932	Standard	NM_153363		Approved	MGC42415	uc003tsx.3	Q8IYX0	OTTHUMG00000156486	ENST00000421025.1:c.183G>C	7.37:g.63721228G>C	ENSP00000416809:p.Lys61Asn					ZNF679_ENST00000255746.4_Missense_Mutation_p.K61N	p.K61N	NM_001159524.1|NM_153363.2	NP_001152996.1|NP_699194.2	Q8IYX0	ZN679_HUMAN			4	452	+			61			KRAB.			Missense_Mutation	SNP	ENST00000421025.1	37	c.183G>C	CCDS47592.1	.	.	.	.	.	.	.	.	.	.	G	6.643	0.487162	0.12641	.	.	ENSG00000197123	ENST00000421025;ENST00000255746	T;T	0.00932	5.53;5.53	0.235	0.235	0.15431	Krueppel-associated box (3);	.	.	.	.	T	0.01661	0.0053	M	0.67953	2.075	0.21652	N	0.999605	P	0.40970	0.734	B	0.42798	0.398	T	0.43572	-0.9383	8	0.51188	T	0.08	.	.	.	.	.	61	Q8IYX0	ZN679_HUMAN	N	61	ENSP00000416809:K61N;ENSP00000255746:K61N	ENSP00000255746:K61N	K	+	3	2	ZNF679	63358663	0.001000	0.12720	0.492000	0.27490	0.494000	0.33585	-0.077000	0.11394	0.308000	0.22923	0.313000	0.20887	AAG		0.353	ZNF679-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344317.2	NM_153363		3	54	0	0	0	1	0	3	54					C	63721228	G	C	63721228	3	2	360	1	0	0	0	0	1	0	0	0	18083	962	34	5	193	5	ZNF679	7	63721228	Missense_Mutation	SNP	G	TCGA-QU-A6IM-01A-11D-A31L-08	40165079	63721228	95417435	39	18008											
MUC17	140453	broad.mit.edu	37	chr7	100681549	100681549	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	acgactccattaacaagtatAcctgtcagccacacgctggt	12	9	7	13	2	1	0	1	0	0	0	2	1	2	0	3	1	3	2	3	1	4	3			TCGA-QU-A6IM-01A-11D-A31L-08	TCGA-QU-A6IM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c46bdf0-625f-4d00-ae75-b9e83d2fe3ea	84da4992-73f8-4179-bc14-13735496a930	g.chr7:100681549A>G	ENST00000306151.4	+	3	6916	c.6852A>G	c.(6850-6852)atA>atG	p.I2284M		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	2284	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					TAACAAGTATACCTGTCAGCC	0.463																																						ENST00000306151.4																			0				NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343						c.(6850-6852)atA>atG		mucin 17, cell surface associated							226	231	230					7																	100681549		2203	4300	6503	SO:0001583	missense	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100681549A>G	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"Mucins"	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.6852A>G	7.37:g.100681549A>G	ENSP00000302716:p.Ile2284Met						p.I2284M	NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN			3	6916	+	Lung NSC(181;0.136)|all_lung(186;0.182)		2284			59 X approximate tandem repeats.|Ser-rich.		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	c.6852A>G	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	A	0.024	-1.388279	0.01185	.	.	ENSG00000169876	ENST00000306151	T	0.02631	4.22	1.19	-2.38	0.06622	.	.	.	.	.	T	0.01695	0.0054	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.43653	-0.9378	9	0.41790	T	0.15	.	3.0872	0.06281	0.3486:0.0:0.4475:0.2039	.	2284	Q685J3	MUC17_HUMAN	M	2284	ENSP00000302716:I2284M	ENSP00000302716:I2284M	I	+	3	3	MUC17	100468269	0.219000	0.23619	0.000000	0.03702	0.020000	0.10135	-0.334000	0.07883	-2.321000	0.00641	-1.981000	0.00455	ATA		0.463	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		160	402	0	0	0	1	0	160	402					G	100681549	A	G	100681549	3	3	360	1	0	0	0	0	1	0	0	0	9974	381	14	4	6862	4	MUC17	7	100681549	Missense_Mutation	SNP	A	TCGA-QU-A6IM-01A-11D-A31L-08	36960321	100681549	58457114	40	18009											
NRG1	3084	broad.mit.edu	37	chr8	32599590	32599590	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatgaaagtccaaaaccaaGaaagtatgtcaaaataatct	20	8	5	8	0	2	2	1	1	1	1	3	2	3	2	3	0	1	1	3	0	9	2			TCGA-QU-A6IM-01A-11D-A31L-08	TCGA-QU-A6IM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c46bdf0-625f-4d00-ae75-b9e83d2fe3ea	84da4992-73f8-4179-bc14-13735496a930	g.chr8:32599590G>T	ENST00000405005.3	+	7	697	c.697G>T	c.(697-699)Gaa>Taa	p.E233*	NRG1_ENST00000519301.1_Intron|NRG1_ENST00000520407.1_Intron|NRG1_ENST00000341377.5_Nonsense_Mutation_p.E233*|NRG1_ENST00000520502.2_Intron|NRG1_ENST00000523079.1_Intron|NRG1_ENST00000521670.1_Nonsense_Mutation_p.E233*|NRG1_ENST00000539990.1_Intron|NRG1_ENST00000287845.5_Intron|NRG1_ENST00000287842.3_Intron|NRG1_ENST00000338921.4_Nonsense_Mutation_p.E233*|NRG1_ENST00000356819.4_Intron			Q02297	NRG1_HUMAN	neuregulin 1	233					activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|cardiac conduction system development (GO:0003161)|cardiac muscle cell differentiation (GO:0055007)|cardiac muscle cell myoblast differentiation (GO:0060379)|cell communication (GO:0007154)|cell migration (GO:0016477)|cell morphogenesis (GO:0000902)|cell proliferation (GO:0008283)|cellular protein complex disassembly (GO:0043624)|embryo development (GO:0009790)|endocardial cell differentiation (GO:0060956)|epidermal growth factor receptor signaling pathway (GO:0007173)|ERBB signaling pathway (GO:0038127)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glial cell fate commitment (GO:0021781)|innate immune response (GO:0045087)|locomotory behavior (GO:0007626)|mammary gland development (GO:0030879)|MAPK cascade (GO:0000165)|negative regulation of cardiac muscle cell apoptotic process (GO:0010667)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of secretion (GO:0051048)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|neural crest cell development (GO:0014032)|neuron fate commitment (GO:0048663)|neurotransmitter receptor metabolic process (GO:0045213)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peripheral nervous system development (GO:0007422)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell growth (GO:0030307)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of Ras protein signal transduction (GO:0046579)|positive regulation of striated muscle cell differentiation (GO:0051155)|regulation of protein heterodimerization activity (GO:0043497)|regulation of protein homodimerization activity (GO:0043496)|synapse assembly (GO:0007416)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|ventricular cardiac muscle cell differentiation (GO:0055012)|ventricular trabecula myocardium morphogenesis (GO:0003222)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|axon (GO:0030424)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)	cytokine activity (GO:0005125)|ErbB-3 class receptor binding (GO:0043125)|growth factor activity (GO:0008083)|protein tyrosine kinase activator activity (GO:0030296)|receptor binding (GO:0005102)|receptor tyrosine kinase binding (GO:0030971)|transcription cofactor activity (GO:0003712)|transmembrane receptor protein tyrosine kinase activator activity (GO:0030297)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(1)|skin(1)	39		Breast(100;0.203)		KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943)		CCAAAACCAAGAAAGTATGTC	0.398																																						ENST00000341377.5																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(1)|skin(1)	39						c.(697-699)Gaa>Taa		neuregulin 1							114	99	104					8																	32599590		2203	4300	6503	SO:0001587	stop_gained	3084				activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|cardiac muscle cell differentiation|cell communication|cell proliferation|cellular protein complex disassembly|embryo development|mammary gland development|negative regulation of cardiac muscle cell apoptosis|negative regulation of secretion|negative regulation of transcription, DNA-dependent|nervous system development|neural crest cell development|Notch signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of striated muscle cell differentiation|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|transmembrane receptor protein tyrosine kinase signaling pathway|ventricular cardiac muscle cell differentiation|wound healing	apical plasma membrane|extracellular region|extracellular space|integral to membrane|nucleus|plasma membrane	cytokine activity|ErbB-3 class receptor binding|growth factor activity|protein binding|protein tyrosine kinase activator activity|receptor tyrosine kinase binding|transcription cofactor activity|transmembrane receptor protein tyrosine kinase activator activity	g.chr8:32599590G>T	L12261	CCDS6084.1, CCDS6085.1, CCDS6086.1, CCDS6087.1, CCDS47836.1, CCDS55218.1, CCDS55219.1, CCDS75727.1	8p21-p12	2014-06-23			ENSG00000157168	ENSG00000157168		"Immunoglobulin superfamily / I-set domain containing"	7997	protein-coding gene	gene with protein product		142445	"NRG1 intronic transcript 2 (non-protein coding)"	HGL, NRG1-IT2		1350381, 8095334	Standard	NM_013962		Approved	HRG, NDF, GGF	uc003xiu.2	Q02297	OTTHUMG00000163918	ENST00000405005.3:c.697G>T	8.37:g.32599590G>T	ENSP00000384620:p.Glu233*					NRG1_ENST00000287840.5_Nonsense_Mutation_p.E233*|NRG1_ENST00000405005.2_Nonsense_Mutation_p.E233*|NRG1_ENST00000520502.2_Intron|NRG1_ENST00000287842.3_Intron|NRG1_ENST00000338921.4_Nonsense_Mutation_p.E233*|NRG1_ENST00000539990.1_Intron|NRG1_ENST00000356819.4_Intron|NRG1_ENST00000521670.1_Nonsense_Mutation_p.E233*|NRG1_ENST00000519301.1_Intron|NRG1_ENST00000287845.5_Intron|NRG1_ENST00000523079.1_Intron|NRG1_ENST00000520407.1_Intron	p.E233*			Q02297	NRG1_HUMAN		KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943)	7	1214	+		Breast(100;0.203)	233					A5YAK4|A5YAK5|A8K1L2|B7Z4Z3|E9PHH4|O14667|P98202|Q02298|Q02299|Q07110|Q07111|Q12779|Q12780|Q12781|Q12782|Q12783|Q12784|Q15491|Q7RTV9|Q7RTW0|Q7RTW1|Q7RTW2|Q8NFN1|Q8NFN2|Q8NFN3|Q9UPE3	Nonsense_Mutation	SNP	ENST00000405005.3	37	c.697G>T	CCDS6085.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	40|40	8.496391|8.496391	0.98836|0.98836	.|.	.|.	ENSG00000157168|ENSG00000157168	ENST00000338921;ENST00000287840;ENST00000341377;ENST00000405005;ENST00000521670;ENST00000522402|ENST00000518206	.|.	.|.	.|.	5.93|5.93	5.93|5.93	0.95920|0.95920	.|.	0.855226|.	0.10364|.	N|.	0.683582|.	.|T	.|0.77054	.|0.4074	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.74047	.|-0.3790	.|4	0.22109|.	T|.	0.4|.	2.3086|2.3086	20.3368|20.3368	0.98748|0.98748	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	X|N	233;233;233;233;233;79|111	.|.	ENSP00000287840:E233X|.	E|K	+|+	1|3	0|2	NRG1|NRG1	32719132|32719132	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	5.429000|5.429000	0.66495|0.66495	2.805000|2.805000	0.96524|0.96524	0.655000|0.655000	0.94253|0.94253	GAA|AAG		0.398	NRG1-017	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000472504.1			16	29	1	0	1.5739e-10	1	1.69614e-10	16	29					T	32599590	G	T	32599590	4	4	360	1	0	0	0	0	0	1	0	0	10647	943	33	5	2193	5	NRG1	8	32599590	Nonsense_Mutation	SNP	G	TCGA-QU-A6IM-01A-11D-A31L-08		32599590	113764432	41	18010											
ZHX1	11244	broad.mit.edu	37	chr8	124266782	124266782	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ttgctcttttgtcttttttgCccgaatgccaaatgaatcag	8	17	7	9	1	3	1	1	1	2	0	3	2	3	1	2	0	3	1	2	0	3	6			TCGA-QU-A6IM-01A-11D-A31L-08	TCGA-QU-A6IM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c46bdf0-625f-4d00-ae75-b9e83d2fe3ea	84da4992-73f8-4179-bc14-13735496a930	g.chr8:124266782C>T	ENST00000522655.1	-	3	1945	c.1405G>A	c.(1405-1407)Gca>Aca	p.A469T	ZHX1_ENST00000395571.3_Missense_Mutation_p.A469T|ZHX1_ENST00000297857.2_Missense_Mutation_p.A469T|ZHX1_ENST00000522595.1_5'Flank|ZHX1-C8ORF76_ENST00000357082.4_Intron			Q9UKY1	ZHX1_HUMAN	zinc fingers and homeoboxes 1	469	Required for interaction with NFYA.				cell differentiation (GO:0030154)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29	Lung NSC(37;1.25e-09)|Ovarian(258;0.0154)		STAD - Stomach adenocarcinoma(47;0.00527)			GTCTTTTTTGCCCGAATGCCA	0.388																																						ENST00000395571.3																			0				breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29						c.(1405-1407)Gca>Aca		zinc fingers and homeoboxes 1							138	147	144					8																	124266782		2203	4300	6503	SO:0001583	missense	11244				negative regulation of transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:124266782C>T	AF106862	CCDS6342.1	8q24.13	2012-03-09	2004-01-23		ENSG00000165156	ENSG00000165156		"Zinc fingers, C2H2-type", "Homeoboxes / ZF class"	12871	protein-coding gene	gene with protein product		604764	"zinc-fingers and homeoboxes 1"			10441475	Standard	NM_001017926		Approved		uc003yqe.3	Q9UKY1	OTTHUMG00000165088	ENST00000522655.1:c.1405G>A	8.37:g.124266782C>T	ENSP00000428821:p.Ala469Thr					ZHX1_ENST00000297857.2_Missense_Mutation_p.A469T|ZHX1_ENST00000522655.1_Missense_Mutation_p.A469T|ZHX1-C8ORF76_ENST00000357082.4_Intron	p.A469T	NM_001017926.2|NM_007222.4	NP_001017926.1|NP_009153.3	Q9UKY1	ZHX1_HUMAN	STAD - Stomach adenocarcinoma(47;0.00527)		3	2022	-	Lung NSC(37;1.25e-09)|Ovarian(258;0.0154)		469			Required for interaction with NFYA.		Q8IWD8	Missense_Mutation	SNP	ENST00000522655.1	37	c.1405G>A	CCDS6342.1	.	.	.	.	.	.	.	.	.	.	C	0.011	-1.698296	0.00725	.	.	ENSG00000165156	ENST00000297857;ENST00000395571;ENST00000522655	D;D;D	0.94650	-3.48;-3.48;-3.48	5.27	5.27	0.74061	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.241130	0.43416	D	0.000580	D	0.87305	0.6144	.	.	.	0.48341	D	0.999634	B	0.17268	0.021	B	0.17722	0.019	T	0.79983	-0.1573	9	0.12103	T	0.63	-15.5452	8.432	0.32764	0.1548:0.7683:0.0:0.0769	.	469	Q9UKY1	ZHX1_HUMAN	T	469	ENSP00000297857:A469T;ENSP00000378938:A469T;ENSP00000428821:A469T	ENSP00000297857:A469T	A	-	1	0	ZHX1	124335963	0.998000	0.40836	0.988000	0.46212	0.345000	0.29048	3.074000	0.50065	2.738000	0.93877	0.555000	0.69702	GCA		0.388	ZHX1-003	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000381759.1			4	155	0	0	0	1	0	4	155					T	124266782	C	T	124266782	3	4	360	1	0	0	0	0	1	0	0	0	17672	739	26	3	1220	3	ZHX1	8	124266782	Missense_Mutation	SNP	C	TCGA-QU-A6IM-01A-11D-A31L-08	91667192	124266782	22097240	42	18011											
IARS	3376	broad.mit.edu	37	chr9	95043126	95043126	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagcaactaaagatacagttTcatcttcttccaaagggaaa	17	10	6	8	0	3	1	1	0	2	1	4	2	4	2	1	1	3	2	1	1	7	5			TCGA-QU-A6IM-01A-11D-A31L-08	TCGA-QU-A6IM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c46bdf0-625f-4d00-ae75-b9e83d2fe3ea	84da4992-73f8-4179-bc14-13735496a930	g.chr9:95043126T>C	ENST00000375643.3	-	7	913	c.647A>G	c.(646-648)gAa>gGa	p.E216G	IARS_ENST00000443024.2_Missense_Mutation_p.E216G|IARS_ENST00000447699.2_Missense_Mutation_p.E106G|IARS_ENST00000375629.3_5'UTR	NM_013417.2	NP_038203.2	P41252	SYIC_HUMAN	isoleucyl-tRNA synthetase	216					gene expression (GO:0010467)|isoleucyl-tRNA aminoacylation (GO:0006428)|osteoblast differentiation (GO:0001649)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|isoleucine-tRNA ligase activity (GO:0004822)			breast(3)|endometrium(2)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	35					L-Isoleucine(DB00167)	AGATACAGTTTCATCTTCTTC	0.353																																						ENST00000375643.3																			0				breast(3)|endometrium(2)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	35						c.(646-648)gAa>gGa		isoleucyl-tRNA synthetase	L-Isoleucine(DB00167)						98	90	93					9																	95043126		2203	4300	6503	SO:0001583	missense	3376				isoleucyl-tRNA aminoacylation	cytosol|nucleus|soluble fraction	ATP binding|isoleucine-tRNA ligase activity|protein binding	g.chr9:95043126T>C	AB209234	CCDS6694.1	9q21	2011-07-01	2007-02-26		ENSG00000196305	ENSG00000196305	6.1.1.5	"Aminoacyl tRNA synthetases / Class I"	5330	protein-coding gene	gene with protein product	"isoleucine tRNA ligase 1, cytoplasmic"	600709				8812440	Standard	NM_002161		Approved	ILRS, IARS1	uc004aru.4	P41252	OTTHUMG00000020219	ENST00000375643.3:c.647A>G	9.37:g.95043126T>C	ENSP00000364794:p.Glu216Gly					IARS_ENST00000375629.3_5'UTR|IARS_ENST00000443024.2_Missense_Mutation_p.E216G|IARS_ENST00000447699.2_Missense_Mutation_p.E106G	p.E216G	NM_013417.2	NP_038203.2	P41252	SYIC_HUMAN			7	913	-			216					A8KAE9|Q5TCD0|Q7Z3T4|Q9H588	Missense_Mutation	SNP	ENST00000375643.3	37	c.647A>G	CCDS6694.1	.	.	.	.	.	.	.	.	.	.	T	14.89	2.671896	0.47781	.	.	ENSG00000196305	ENST00000375643;ENST00000443024;ENST00000447699;ENST00000375660;ENST00000395554	T;T;T;T	0.76316	-1.01;-1.01;-1.01;-1.01	5.55	4.38	0.52667	Valyl/Leucyl/Isoleucyl-tRNA synthetase, class Ia, editing domain (2);Aminoacyl-tRNA synthetase, class Ia (1);	0.229367	0.43919	D	0.000514	T	0.67636	0.2914	L	0.35723	1.085	0.80722	D	1	B;B	0.16802	0.0;0.019	B;B	0.25759	0.012;0.063	T	0.63470	-0.6630	10	0.59425	D	0.04	-17.5558	7.313	0.26485	0.1441:0.0:0.1505:0.7053	.	216;61	P41252;Q6P0M4	SYIC_HUMAN;.	G	216;216;106;216;216	ENSP00000364794:E216G;ENSP00000406448:E216G;ENSP00000415020:E106G;ENSP00000378922:E216G	ENSP00000364794:E216G	E	-	2	0	IARS	94082947	1.000000	0.71417	0.995000	0.50966	0.900000	0.52787	2.023000	0.41040	1.004000	0.39156	0.533000	0.62120	GAA		0.353	IARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053059.2	NM_002161		10	25	0	0	0	1	0	10	25					C	95043126	T	C	95043126	3	2	360	1	0	0	0	0	1	0	0	0	7473	1783	62	4	3253	4	IARS	9	95043126	Missense_Mutation	SNP	T	TCGA-QU-A6IM-01A-11D-A31L-08		95043126	46170305	43	18012											
ZNF462	58499	broad.mit.edu	37	chr9	109691723	109691723	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagctcaggaaatcgagtggCtcccattccgctgcatcaaa	12	8	9	12	2	2	0	2	0	0	0	5	2	4	1	2	2	2	4	2	2	3	1			TCGA-QU-A6IM-01A-11D-A31L-08	TCGA-QU-A6IM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c46bdf0-625f-4d00-ae75-b9e83d2fe3ea	84da4992-73f8-4179-bc14-13735496a930	g.chr9:109691723C>G	ENST00000277225.5	+	3	5819	c.5530C>G	c.(5530-5532)Ctc>Gtc	p.L1844V	ZNF462_ENST00000457913.1_Missense_Mutation_p.L1844V|ZNF462_ENST00000441147.2_Missense_Mutation_p.L689V			Q96JM2	ZN462_HUMAN	zinc finger protein 462	1844					chromatin organization (GO:0006325)|negative regulation of DNA binding (GO:0043392)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						AATCGAGTGGCTCCCATTCCG	0.522																																						ENST00000277225.5																			0				NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						c.(5530-5532)Ctc>Gtc		zinc finger protein 462							99	73	82					9																	109691723		2203	4300	6503	SO:0001583	missense	58499				transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:109691723C>G	AB058706	CCDS35096.1	9q31.3	2008-02-05			ENSG00000148143	ENSG00000148143		"Zinc fingers, C2H2-type"	21684	protein-coding gene	gene with protein product							Standard	NM_021224		Approved	DKFZP762N2316, KIAA1803, Zfp462	uc004bcz.3	Q96JM2	OTTHUMG00000020438	ENST00000277225.5:c.5530C>G	9.37:g.109691723C>G	ENSP00000277225:p.Leu1844Val					ZNF462_ENST00000457913.1_Missense_Mutation_p.L1844V|ZNF462_ENST00000441147.2_Missense_Mutation_p.L689V	p.L1844V			Q96JM2	ZN462_HUMAN			3	5819	+			1844					Q5T0T4|Q8N408	Missense_Mutation	SNP	ENST00000277225.5	37	c.5530C>G	CCDS35096.1	.	.	.	.	.	.	.	.	.	.	C	14.08	2.429055	0.43122	.	.	ENSG00000148143	ENST00000277225;ENST00000457913;ENST00000374686;ENST00000441147	T;T;T;T	0.06218	3.33;3.57;3.72;3.73	5.92	4.85	0.62838	.	0.000000	0.85682	D	0.000000	T	0.14184	0.0343	N	0.24115	0.695	0.80722	D	1	D;D	0.71674	0.998;0.997	D;D	0.78314	0.991;0.991	T	0.02821	-1.1106	10	0.52906	T	0.07	.	15.988	0.80176	0.0:0.9255:0.0:0.0745	.	1844;1844	Q96JM2-3;Q96JM2	.;ZN462_HUMAN	V	1844;1844;727;689	ENSP00000277225:L1844V;ENSP00000414570:L1844V;ENSP00000363818:L727V;ENSP00000397306:L689V	ENSP00000277225:L1844V	L	+	1	0	ZNF462	108731544	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	3.005000	0.49521	2.813000	0.96785	0.561000	0.74099	CTC		0.522	ZNF462-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000053532.2	NM_021224		33	58	0	0	0	1	0	33	58					G	109691723	C	G	109691723	3	3	360	1	0	0	0	0	1	0	0	0	17923	797	28	5	5536	5	ZNF462	9	109691723	Missense_Mutation	SNP	C	TCGA-QU-A6IM-01A-11D-A31L-08	14648597	109691723	31521708	44	18013											
TRUB2	26995	broad.mit.edu	37	chr9	131071863	131071863	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccctctccagccccaaggtaGagctcgggccctgggagtcc	6	6	12	17	1	1	1	0	0	1	1	4	2	2	2	6	3	2	2	6	3	2	1			TCGA-QU-A6IM-01A-11D-A31L-08	TCGA-QU-A6IM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c46bdf0-625f-4d00-ae75-b9e83d2fe3ea	84da4992-73f8-4179-bc14-13735496a930	g.chr9:131071863G>C	ENST00000372890.4	-	8	1295	c.962C>G	c.(961-963)tCt>tGt	p.S321C	TRUB2_ENST00000546104.1_Missense_Mutation_p.S265C|TRUB2_ENST00000460320.1_5'Flank	NM_015679.1	NP_056494.1	O95900	TRUB2_HUMAN	TruB pseudouridine (psi) synthase family member 2	321					pseudouridine synthesis (GO:0001522)|tRNA processing (GO:0008033)		poly(A) RNA binding (GO:0044822)|pseudouridine synthase activity (GO:0009982)			kidney(2)|large_intestine(2)|lung(3)|ovary(1)	8						CCCCAAGGTAGAGCTCGGGCC	0.622																																						ENST00000372890.4																			0				kidney(2)|large_intestine(2)|lung(3)|ovary(1)	8						c.(961-963)tCt>tGt		TruB pseudouridine (psi) synthase family member 2							34	38	36					9																	131071863		2203	4300	6503	SO:0001583	missense	26995				pseudouridine synthesis|tRNA processing		pseudouridine synthase activity|RNA binding	g.chr9:131071863G>C	AK001956	CCDS6897.1	9q34.11	2014-01-28	2013-09-02		ENSG00000167112	ENSG00000167112			17170	protein-coding gene	gene with protein product		610727	"TruB pseudouridine (psi) synthase homolog 2 (E. coli)"			12736709	Standard	NM_015679		Approved	CLONE24922	uc004buq.1	O95900	OTTHUMG00000020741	ENST00000372890.4:c.962C>G	9.37:g.131071863G>C	ENSP00000361982:p.Ser321Cys					TRUB2_ENST00000546104.1_Missense_Mutation_p.S265C	p.S321C	NM_015679.1	NP_056494.1	O95900	TRUB2_HUMAN			8	1295	-			321					B7Z7G5	Missense_Mutation	SNP	ENST00000372890.4	37	c.962C>G	CCDS6897.1	.	.	.	.	.	.	.	.	.	.	G	14.71	2.617635	0.46736	.	.	ENSG00000167112	ENST00000372890;ENST00000546104	T;T	0.20463	2.07;2.08	5.27	4.36	0.52297	.	1.382140	0.04189	N	0.327912	T	0.26557	0.0649	L	0.54323	1.7	0.09310	N	1	P	0.52170	0.951	B	0.40901	0.343	T	0.33574	-0.9863	10	0.56958	D	0.05	-0.4431	11.9837	0.53133	0.0877:0.0:0.9123:0.0	.	321	O95900	TRUB2_HUMAN	C	321;265	ENSP00000361982:S321C;ENSP00000438084:S265C	ENSP00000361982:S321C	S	-	2	0	TRUB2	130111684	0.023000	0.18921	0.011000	0.14972	0.012000	0.07955	2.153000	0.42282	2.615000	0.88500	0.561000	0.74099	TCT		0.622	TRUB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054419.1	NM_015679		26	69	0	0	0	1	0	26	69					C	131071863	G	C	131071863	3	2	360	1	0	0	0	0	1	0	0	0	16600	942	33	5	37	5	TRUB2	9	131071863	Missense_Mutation	SNP	G	TCGA-QU-A6IM-01A-11D-A31L-08	21380140	131071863	10141568	45	18014											
GPR107	57720	broad.mit.edu	37	chr9	132854651	132854651	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	catctggattcatatccttcGaaaacgacggtaaactattt	13	13	6	9	3	2	0	1	0	1	0	4	3	3	1	1	2	2	1	1	2	6	6	rs200754726		TCGA-QU-A6IM-01A-11D-A31L-08	TCGA-QU-A6IM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c46bdf0-625f-4d00-ae75-b9e83d2fe3ea	84da4992-73f8-4179-bc14-13735496a930	g.chr9:132854651G>A	ENST00000372406.1	+	9	1361	c.854G>A	c.(853-855)cGa>cAa	p.R285Q	GPR107_ENST00000372410.3_Missense_Mutation_p.R285Q|GPR107_ENST00000347136.6_Missense_Mutation_p.R285Q	NM_001136557.1	NP_001130029.1	Q5VW38	GP107_HUMAN	G protein-coupled receptor 107	285						integral component of membrane (GO:0016021)				endometrium(2)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	11		Ovarian(14;0.000531)				CATATCCTTCGAAAACGACGG	0.423																																						ENST00000372406.1																			0				endometrium(2)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	11						c.(853-855)cGa>cAa		G protein-coupled receptor 107							136	133	134					9																	132854651		2203	4300	6503	SO:0001583	missense	0					integral to membrane		g.chr9:132854651G>A	AF376725	CCDS35162.1, CCDS48041.1, CCDS48042.1	9q34.2	2014-01-30			ENSG00000148358	ENSG00000148358		"GPCR / Unclassified : 7TM orphan receptors"	17830	protein-coding gene	gene with protein product							Standard	NM_020960		Approved	KIAA1624, RP11-88G17, FLJ20998, LUSTR1	uc004bzd.2	Q5VW38	OTTHUMG00000020804	ENST00000372406.1:c.854G>A	9.37:g.132854651G>A	ENSP00000361483:p.Arg285Gln					GPR107_ENST00000372410.3_Missense_Mutation_p.R285Q|GPR107_ENST00000347136.6_Missense_Mutation_p.R285Q	p.R285Q	NM_001136557.1	NP_001130029.1	Q5VW38	GP107_HUMAN			9	1361	+		Ovarian(14;0.000531)	285					A6NJ53|Q2TB81|Q5JPA3|Q5VW39|Q96T26|Q9H658|Q9HCE8	Missense_Mutation	SNP	ENST00000372406.1	37	c.854G>A	CCDS48041.1	.	.	.	.	.	.	.	.	.	.	G	27.3	4.822716	0.90873	.	.	ENSG00000148358	ENST00000372406;ENST00000347136;ENST00000372410;ENST00000455412	T;T;T	0.25749	1.78;1.83;1.8	5.56	5.56	0.83823	.	0.101618	0.41097	D	0.000949	T	0.42131	0.1189	M	0.68317	2.08	0.48901	D	0.999722	D;D;D	0.59767	0.963;0.986;0.963	P;P;P	0.53689	0.505;0.732;0.505	T	0.09378	-1.0677	10	0.29301	T	0.29	-5.1077	18.183	0.89785	0.0:0.0:1.0:0.0	.	285;285;285	G5E994;Q5VW38;Q5VW38-2	.;GP107_HUMAN;.	Q	285	ENSP00000361483:R285Q;ENSP00000336988:R285Q;ENSP00000361487:R285Q	ENSP00000336988:R285Q	R	+	2	0	GPR107	131894472	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.326000	0.72905	2.638000	0.89438	0.603000	0.83216	CGA		0.423	GPR107-003	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054643.2			5	84	0	0	0	1	0	5	84					A	132854651	G	A	132854651	3	1	360	1	0	0	0	0	1	0	0	0	6623	1058	37	2	888	2	GPR107	9	132854651	Missense_Mutation	SNP	G	TCGA-QU-A6IM-01A-11D-A31L-08	1782788	132854651	8358780	46	18015											
ZEB1	6935	broad.mit.edu	37	chr10	31809478	31809478	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gttggtttggtgtctcccatAagtatcaatttaagtgatat	10	17	9	5	0	2	1	1	1	1	0	3	1	2	1	1	2	0	3	1	2	5	7			TCGA-QU-A6IM-01A-11D-A31L-08	TCGA-QU-A6IM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c46bdf0-625f-4d00-ae75-b9e83d2fe3ea	84da4992-73f8-4179-bc14-13735496a930	g.chr10:31809478A>G	ENST00000320985.10	+	7	1325	c.1215A>G	c.(1213-1215)atA>atG	p.I405M	ZEB1_ENST00000559858.1_3'UTR|ZEB1_ENST00000560721.2_Missense_Mutation_p.I385M|ZEB1_ENST00000446923.2_Missense_Mutation_p.I389M|ZEB1_ENST00000542815.3_Missense_Mutation_p.I338M|ZEB1_ENST00000361642.5_Missense_Mutation_p.I406M			P37275	ZEB1_HUMAN	zinc finger E-box binding homeobox 1	405					cartilage development (GO:0051216)|cell proliferation (GO:0008283)|cellular response to amino acid stimulus (GO:0071230)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cochlea morphogenesis (GO:0090103)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic skeletal system morphogenesis (GO:0048704)|forebrain development (GO:0030900)|immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial cell differentiation (GO:0030857)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|pattern specification process (GO:0007389)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of mesenchymal cell proliferation (GO:0010464)|regulation of smooth muscle cell differentiation (GO:0051150)|regulation of T cell differentiation in thymus (GO:0033081)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|response to activity (GO:0014823)|response to nutrient levels (GO:0031667)|semicircular canal morphogenesis (GO:0048752)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|E-box binding (GO:0070888)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(2)|breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(38)|ovary(3)|skin(6)|upper_aerodigestive_tract(4)	77		Prostate(175;0.0156)				TGTCTCCCATAAGTATCAATT	0.438																																					Ovarian(40;423 959 14296 36701 49589)	ENST00000446923.2																			0				NS(2)|breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(38)|ovary(3)|skin(6)|upper_aerodigestive_tract(4)	77						c.(1165-1167)atA>atG		zinc finger E-box binding homeobox 1							87	83	84					10																	31809478		2203	4300	6503	SO:0001583	missense	6935				cell proliferation|immune response|negative regulation of transcription from RNA polymerase II promoter|positive regulation of neuron differentiation	cytoplasm	E-box binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding	g.chr10:31809478A>G	AK091478	CCDS7169.1, CCDS44370.1, CCDS53505.1, CCDS53506.1, CCDS53507.1	10p11.22	2014-02-14	2007-02-15	2007-02-15	ENSG00000148516	ENSG00000148516		"Zinc fingers, C2H2-type", "Homeoboxes / ZF class"	11642	protein-coding gene	gene with protein product		189909	"transcription factor 8 (represses interleukin 2 expression)", "posterior polymorphous corneal dystrophy 3"	TCF8, PPCD3		1427828, 1840704, 15384081, 16252232	Standard	NM_001128128		Approved	BZP, ZEB, AREB6, NIL-2-A, Zfhep, Zfhx1a, FECD6	uc001ivu.4	P37275	OTTHUMG00000017907	ENST00000320985.10:c.1215A>G	10.37:g.31809478A>G	ENSP00000319248:p.Ile405Met					ZEB1_ENST00000320985.10_Missense_Mutation_p.I405M|ZEB1_ENST00000542815.3_Missense_Mutation_p.I338M|ZEB1_ENST00000559858.1_3'UTR|ZEB1_ENST00000560721.2_Missense_Mutation_p.I385M|ZEB1_ENST00000361642.5_Missense_Mutation_p.I406M	p.I389M	NM_001128128.2|NM_001174094.1	NP_001121600.1|NP_001167565.1	P37275	ZEB1_HUMAN			7	1558	+		Prostate(175;0.0156)	405					B4DJV0|B4DUW9|E9PCM7|F5H4I8|Q12924|Q13800|Q2KJ05|Q5T968|Q5VZ84|Q8NB68	Missense_Mutation	SNP	ENST00000320985.10	37	c.1167A>G	CCDS7169.1	.	.	.	.	.	.	.	.	.	.	A	14.38	2.517521	0.44763	.	.	ENSG00000148516	ENST00000542879;ENST00000537225;ENST00000361642;ENST00000546250;ENST00000542815;ENST00000320985;ENST00000437844;ENST00000541037;ENST00000543514;ENST00000446923	T;T;T;T;T	0.15487	2.75;2.43;2.48;2.42;2.47	5.61	0.337	0.15966	.	0.000000	0.64402	D	0.000001	T	0.34048	0.0884	M	0.70275	2.135	0.50313	D	0.999865	D;D;D;D;D;D;D;D	0.89917	0.972;1.0;0.999;0.999;0.998;0.989;0.998;0.999	P;D;D;D;D;P;D;D	0.87578	0.891;0.998;0.994;0.971;0.947;0.78;0.947;0.971	T	0.02860	-1.1101	10	0.72032	D	0.01	-17.4353	7.4398	0.27176	0.5259:0.2514:0.0:0.2227	.	338;405;389;405;405;385;406;405	F5H4I8;F5H1R1;E9PCM7;B2RBI8;A0JLS9;Q5VZ84;Q2KJ05;P37275	.;.;.;.;.;.;.;ZEB1_HUMAN	M	187;405;406;405;338;405;385;264;296;389	ENSP00000444282:I187M;ENSP00000354487:I406M;ENSP00000444891:I338M;ENSP00000319248:I405M;ENSP00000391612:I389M	ENSP00000319248:I405M	I	+	3	3	ZEB1	31849484	0.997000	0.39634	0.997000	0.53966	0.998000	0.95712	0.641000	0.24720	-0.116000	0.11893	0.533000	0.62120	ATA		0.438	ZEB1-018	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000419083.2	NM_030751		20	53	0	0	0	1	0	20	53					G	31809478	A	G	31809478	3	3	360	1	0	0	0	0	1	0	0	0	17620	352	13	4	1255	4	ZEB1	10	31809478	Missense_Mutation	SNP	A	TCGA-QU-A6IM-01A-11D-A31L-08		31809478	103725269	47	18016											
A1CF	29974	broad.mit.edu	37	chr10	52595854	52595854	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggtagcagtttcctcctcGccatggcagctgctcgatga	6	11	11	13	2	0	1	0	1	0	0	4	2	2	1	3	2	3	6	3	2	1	2			TCGA-QU-A6IM-01A-11D-A31L-08	TCGA-QU-A6IM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c46bdf0-625f-4d00-ae75-b9e83d2fe3ea	84da4992-73f8-4179-bc14-13735496a930	g.chr10:52595854G>A	ENST00000373993.1	-	4	628	c.584C>T	c.(583-585)gCg>gTg	p.A195V	A1CF_ENST00000395489.2_Missense_Mutation_p.A188V|A1CF_ENST00000395495.1_Missense_Mutation_p.A195V|A1CF_ENST00000282641.2_Missense_Mutation_p.A195V|A1CF_ENST00000373997.3_Missense_Mutation_p.A195V|A1CF_ENST00000373995.3_Missense_Mutation_p.A203V|A1CF_ENST00000374001.2_Missense_Mutation_p.A195V			Q9NQ94	A1CF_HUMAN	APOBEC1 complementation factor	195	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				cytidine to uridine editing (GO:0016554)|gene expression (GO:0010467)|mRNA modification (GO:0016556)|mRNA processing (GO:0006397)|protein stabilization (GO:0050821)	apolipoprotein B mRNA editing enzyme complex (GO:0030895)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)|single-stranded RNA binding (GO:0003727)	p.A203V(2)|p.A195V(2)		NS(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(14)|prostate(2)|skin(3)	29						TTTCCTCCTCGCCATGGCAGC	0.488																																						ENST00000395489.2																			4	Substitution - Missense(4)	p.A203V(2)|p.A195V(2)	lung(2)|breast(2)	NS(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(14)|prostate(2)|skin(3)	29						c.(562-564)gCg>gTg		APOBEC1 complementation factor							106	96	100					10																	52595854		2203	4300	6503	SO:0001583	missense	29974				cytidine to uridine editing|mRNA modification|mRNA processing|protein stabilization	apolipoprotein B mRNA editing enzyme complex|endoplasmic reticulum|nucleoplasm	nucleotide binding|protein binding|single-stranded RNA binding	g.chr10:52595854G>A	AF271790	CCDS7241.1, CCDS7242.1, CCDS7243.1, CCDS73133.1	10q21.1	2013-02-12			ENSG00000148584	ENSG00000148584		"RNA binding motif (RRM) containing"	24086	protein-coding gene	gene with protein product						11815617, 11072063	Standard	NM_014576		Approved	ACF, ASP, ACF64, ACF65, APOBEC1CF	uc001jjj.3	Q9NQ94	OTTHUMG00000018240	ENST00000373993.1:c.584C>T	10.37:g.52595854G>A	ENSP00000363105:p.Ala195Val					A1CF_ENST00000373995.3_Missense_Mutation_p.A203V|A1CF_ENST00000395495.1_Missense_Mutation_p.A195V|A1CF_ENST00000282641.2_Missense_Mutation_p.A195V|A1CF_ENST00000374001.1_Missense_Mutation_p.A195V|A1CF_ENST00000373993.1_Missense_Mutation_p.A195V|A1CF_ENST00000373997.3_Missense_Mutation_p.A195V	p.A188V	NM_001198819.1	NP_001185748.1	Q9NQ94	A1CF_HUMAN			8	959	-			195			RRM 2.		A1L4F2|A8K7G7|B7ZM14|Q5SZQ0|Q9NQ93|Q9NQX8|Q9NQX9|Q9NXC9|Q9NZD3	Missense_Mutation	SNP	ENST00000373993.1	37	c.563C>T	CCDS7242.1	.	.	.	.	.	.	.	.	.	.	G	24.6	4.550854	0.86127	.	.	ENSG00000148584	ENST00000374001;ENST00000373993;ENST00000373997;ENST00000373995;ENST00000282641;ENST00000395495;ENST00000395488;ENST00000395489;ENST00000414883	T;T;T;T;T;T;T;T	0.35973	1.28;1.28;1.28;1.28;1.28;1.28;1.28;1.28	6.04	5.1	0.69264	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.046025	0.85682	D	0.000000	T	0.64616	0.2614	M	0.88450	2.955	0.80722	D	1	D;D;D;D	0.76494	0.999;0.997;0.993;0.998	D;P;P;P	0.64042	0.921;0.893;0.73;0.888	T	0.71255	-0.4647	10	0.87932	D	0	-9.2963	16.5645	0.84575	0.0:0.1418:0.8582:0.0	.	188;195;195;203	F8W9F8;Q9NQ94;Q9NQ94-2;Q9NQ94-4	.;A1CF_HUMAN;.;.	V	195;195;195;203;195;195;178;188;195	ENSP00000363113:A195V;ENSP00000363105:A195V;ENSP00000363109:A195V;ENSP00000363107:A203V;ENSP00000282641:A195V;ENSP00000378873:A195V;ENSP00000378868:A188V;ENSP00000397953:A195V	ENSP00000282641:A195V	A	-	2	0	A1CF	52265860	1.000000	0.71417	0.999000	0.59377	0.619000	0.37552	7.811000	0.86092	2.873000	0.98535	0.563000	0.77884	GCG		0.488	A1CF-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048086.2	NM_014576		22	66	0	0	0	1	0	22	66					A	52595854	G	A	52595854	3	1	360	1	0	0	0	0	1	0	0	0	2	1087	38	1	1232	1	A1CF	10	52595854	Missense_Mutation	SNP	G	TCGA-QU-A6IM-01A-11D-A31L-08	20786376	52595854	82938893	48	18017											
ZNF365	22891	broad.mit.edu	37	chr10	64403689	64403689	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcatcatcctttaattaatgTctgcgctgggtcagataacc	10	13	8	10	1	3	1	2	0	1	1	4	1	4	1	2	1	2	2	2	1	3	4			TCGA-QU-A6IM-01A-11D-A31L-08	TCGA-QU-A6IM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c46bdf0-625f-4d00-ae75-b9e83d2fe3ea	84da4992-73f8-4179-bc14-13735496a930	g.chr10:64403689T>A	ENST00000395251.1	+	2	338	c.4T>A	c.(4-6)Tct>Act	p.S2T	ZNF365_ENST00000410046.3_Intron|ZNF365_ENST00000395249.1_Missense_Mutation_p.S2T	NM_199452.3	NP_955524	Q70YC4	TALAN_HUMAN	zinc finger protein 365	2										breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27	Prostate(12;0.0297)|all_hematologic(501;0.228)					TTAATTAATGTCTGCGCTGGG	0.453																																						ENST00000395251.1																			0				breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						c.(4-6)Tct>Act		zinc finger protein 365							161	145	150					10																	64403689		2203	4300	6503	SO:0001583	missense	22891							g.chr10:64403689T>A	AB020651	CCDS7264.1, CCDS7265.1, CCDS31209.1, CCDS41531.1	10q21.2	2008-10-28			ENSG00000138311	ENSG00000138311		"Zinc fingers, C2H2-type"	18194	protein-coding gene	gene with protein product	"Talanin"	607818				10048485, 12740763	Standard	NM_199450		Approved	KIAA0844, UAN	uc001jmc.2	Q70YC4	OTTHUMG00000018302	ENST00000395251.1:c.4T>A	10.37:g.64403689T>A	ENSP00000378672:p.Ser2Thr					ZNF365_ENST00000395249.1_Missense_Mutation_p.S2T|ZNF365_ENST00000410046.3_Intron	p.S2T	NM_199452.3	NP_955524.3	Q70YC4	TALAN_HUMAN			2	338	+	Prostate(12;0.0297)|all_hematologic(501;0.228)		2						Missense_Mutation	SNP	ENST00000395251.1	37	c.4T>A	CCDS7265.1	.	.	.	.	.	.	.	.	.	.	T	12.22	1.873153	0.33069	.	.	ENSG00000138311	ENST00000395251;ENST00000395249	T	0.53640	0.61	4.63	-0.575	0.11734	.	.	.	.	.	T	0.23532	0.0569	N	0.08118	0	0.09310	N	1	P	0.36392	0.551	B	0.38842	0.283	T	0.18681	-1.0329	9	0.87932	D	0	.	0.7104	0.00923	0.1643:0.1854:0.1706:0.4797	.	2	Q70YC4	TALAN_HUMAN	T	2	ENSP00000378672:S2T	ENSP00000345300:S2T	S	+	1	0	ZNF365	64073695	0.006000	0.16342	0.036000	0.18154	0.640000	0.38277	0.502000	0.22594	-0.087000	0.12528	0.533000	0.62120	TCT		0.453	ZNF365-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000277036.1	NM_014951		14	75	0	0	0	1	0	14	75					A	64403689	T	A	64403689	3	1	360	1	0	0	0	0	1	0	0	0	17866	1667	58	5	1484	5	ZNF365	10	64403689	Missense_Mutation	SNP	T	TCGA-QU-A6IM-01A-11D-A31L-08	11807835	64403689	71131058	49	18018											
GRID1	2894	broad.mit.edu	37	chr10	87484336	87484336	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tctcctcgggcttcttaattAgaatccccactgaatagtcc	9	13	6	13	1	2	2	0	1	2	1	6	2	4	2	4	1	0	1	4	1	5	4			TCGA-QU-A6IM-01A-11D-A31L-08	TCGA-QU-A6IM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c46bdf0-625f-4d00-ae75-b9e83d2fe3ea	84da4992-73f8-4179-bc14-13735496a930	g.chr10:87484336A>T	ENST00000327946.7	-	11	1716	c.1631T>A	c.(1630-1632)cTa>cAa	p.L544Q	GRID1_ENST00000536331.1_Missense_Mutation_p.L115Q	NM_017551.2	NP_060021.1	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1	544					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|social behavior (GO:0035176)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|ionotropic glutamate receptor complex (GO:0008328)|postsynaptic membrane (GO:0045211)	extracellular-glutamate-gated ion channel activity (GO:0005234)|ionotropic glutamate receptor activity (GO:0004970)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106						CTTCTTAATTAGAATCCCCAC	0.522										Multiple Myeloma(13;0.14)																												ENST00000327946.7																			0				NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106						c.(1630-1632)cTa>cAa		glutamate receptor, ionotropic, delta 1	L-Glutamic Acid(DB00142)						70	69	69					10																	87484336		2203	4300	6503	SO:0001583	missense	2894					cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity	g.chr10:87484336A>T	AB033046	CCDS31236.1	10q22	2012-08-29			ENSG00000182771	ENSG00000182771		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4575	protein-coding gene	gene with protein product		610659					Standard	NM_017551		Approved	GluD1, KIAA1220	uc001kdl.1	Q9ULK0	OTTHUMG00000018650	ENST00000327946.7:c.1631T>A	10.37:g.87484336A>T	ENSP00000330148:p.Leu544Gln	Multiple Myeloma(13;0.14)				GRID1_ENST00000536331.1_Missense_Mutation_p.L115Q	p.L544Q	NM_017551.2	NP_060021.1	Q9ULK0	GRID1_HUMAN			11	1716	-			544					B3KXD5|B7Z7L0|Q8IXT3	Missense_Mutation	SNP	ENST00000327946.7	37	c.1631T>A	CCDS31236.1	.	.	.	.	.	.	.	.	.	.	A	16.16	3.044932	0.55110	.	.	ENSG00000182771	ENST00000327946;ENST00000536331	T;T	0.35236	1.32;1.32	5.83	5.83	0.93111	Extracellular solute-binding protein, family 3 (1);Ionotropic glutamate receptor (1);	0.000000	0.85682	D	0.000000	T	0.71143	0.3305	H	0.95365	3.66	0.80722	D	1	D	0.76494	0.999	D	0.72982	0.979	T	0.80817	-0.1213	10	0.87932	D	0	.	15.3578	0.74440	1.0:0.0:0.0:0.0	.	544	Q9ULK0	GRID1_HUMAN	Q	544;115	ENSP00000330148:L544Q;ENSP00000444455:L115Q	ENSP00000330148:L544Q	L	-	2	0	GRID1	87474316	1.000000	0.71417	0.591000	0.28745	0.266000	0.26442	7.493000	0.81493	2.212000	0.71576	0.528000	0.53228	CTA		0.522	GRID1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049148.3	XM_043613		32	44	0	0	0	1	0	32	44					T	87484336	A	T	87484336	3	4	360	1	0	0	0	0	1	0	0	0	6771	420	15	5	1422	5	GRID1	10	87484336	Missense_Mutation	SNP	A	TCGA-QU-A6IM-01A-11D-A31L-08	23080647	87484336	48050411	50	18019											
MYOF	26509	broad.mit.edu	37	chr10	95070306	95070306	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctcactttggtaagtccagcTtggggttcatgttgggttcg	5	15	13	8	1	2	0	2	0	0	0	4	0	3	0	1	4	1	5	1	4	1	6			TCGA-QU-A6IM-01A-11D-A31L-08	TCGA-QU-A6IM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c46bdf0-625f-4d00-ae75-b9e83d2fe3ea	84da4992-73f8-4179-bc14-13735496a930	g.chr10:95070306T>A	ENST00000359263.4	-	52	5983	c.5984A>T	c.(5983-5985)aAg>aTg	p.K1995M	MYOF_ENST00000358334.5_Missense_Mutation_p.K1982M|MYOF_ENST00000371502.4_Missense_Mutation_p.K1985M|MYOF_ENST00000371501.4_Missense_Mutation_p.K1995M	NM_013451.3	NP_038479.1	Q9NZM1	MYOF_HUMAN	myoferlin	1995					blood circulation (GO:0008015)|cellular response to heat (GO:0034605)|muscle contraction (GO:0006936)|plasma membrane repair (GO:0001778)|regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030947)	caveola (GO:0005901)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)	phospholipid binding (GO:0005543)			NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						TAAGTCCAGCTTGGGGTTCAT	0.562																																						ENST00000371501.4																			0				NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						c.(5983-5985)aAg>aTg		myoferlin							129	133	132					10																	95070306		1933	4111	6044	SO:0001583	missense	26509				blood circulation|muscle contraction|plasma membrane repair	caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane	phospholipid binding|protein binding	g.chr10:95070306T>A	AB033033	CCDS41550.1, CCDS41551.1	10q24	2014-06-27	2008-11-26	2008-11-26	ENSG00000138119	ENSG00000138119			3656	protein-coding gene	gene with protein product	"fer-1-like family member 3"	604603	"fer-1 (C.elegans)-like 3 (myoferlin)", "fer-1-like 3, myoferlin (C. elegans)"	FER1L3		10607832, 10995573, 17702744	Standard	NM_013451		Approved	KIAA1207	uc001kin.3	Q9NZM1	OTTHUMG00000018772	ENST00000359263.4:c.5984A>T	10.37:g.95070306T>A	ENSP00000352208:p.Lys1995Met					MYOF_ENST00000359263.4_Missense_Mutation_p.K1995M|MYOF_ENST00000358334.5_Missense_Mutation_p.K1982M|MYOF_ENST00000371502.4_Missense_Mutation_p.K1985M	p.K1995M			Q9NZM1	MYOF_HUMAN			52	6106	-			1995					B3KQN5|Q5VWW2|Q5VWW3|Q5VWW4|Q5VWW5|Q7Z642|Q8IWH0|Q9HBU3|Q9NZM0|Q9ULL3|Q9Y4U4	Missense_Mutation	SNP	ENST00000359263.4	37	c.5984A>T	CCDS41551.1	.	.	.	.	.	.	.	.	.	.	T	18.02	3.529795	0.64860	.	.	ENSG00000138119	ENST00000358334;ENST00000359263;ENST00000371501;ENST00000371502	D;D;D;D	0.84298	-1.83;-1.83;-1.83;-1.78	5.08	5.08	0.68730	.	0.047978	0.85682	D	0.000000	D	0.92260	0.7545	M	0.83012	2.62	0.48762	D	0.999706	D;D	0.76494	0.998;0.999	D;P	0.70016	0.967;0.885	D	0.93281	0.6660	10	0.66056	D	0.02	-22.0812	14.9879	0.71362	0.0:0.0:0.0:1.0	.	1982;1995	Q9NZM1-6;Q9NZM1	.;MYOF_HUMAN	M	1982;1995;1995;1985	ENSP00000351094:K1982M;ENSP00000352208:K1995M;ENSP00000360556:K1995M;ENSP00000360557:K1985M	ENSP00000351094:K1982M	K	-	2	0	MYOF	95060296	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	1.673000	0.37534	2.124000	0.65301	0.391000	0.25812	AAG		0.562	MYOF-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000049423.2	NM_013451		19	56	0	0	0	1	0	19	56					A	95070306	T	A	95070306	3	1	360	1	0	0	0	0	1	0	0	0	10089	1609	56	5	213	5	MYOF	10	95070306	Missense_Mutation	SNP	T	TCGA-QU-A6IM-01A-11D-A31L-08	7585970	95070306	40464441	51	18020											
CYP2C8	1558	broad.mit.edu	37	chr10	96802756	96802756	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cgtgcactacagcatcagtgTaaggcatgtggctcctatcc	9	10	10	12	1	1	0	1	0	0	0	3	0	3	0	2	2	3	5	2	2	3	3			TCGA-QU-A6IM-01A-11D-A31L-08	TCGA-QU-A6IM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c46bdf0-625f-4d00-ae75-b9e83d2fe3ea	84da4992-73f8-4179-bc14-13735496a930	g.chr10:96802756T>C	ENST00000371270.3	-	7	1134	c.1040A>G	c.(1039-1041)tAc>tGc	p.Y347C	CYP2C8_ENST00000535898.1_Missense_Mutation_p.Y245C|CYP2C8_ENST00000539050.1_Missense_Mutation_p.Y261C	NM_000770.3|NM_001198853.1|NM_001198855.1	NP_000761.3|NP_001185782.1|NP_001185784.1	P10632	CP2C8_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 8	347					arachidonic acid metabolic process (GO:0019369)|drug metabolic process (GO:0017144)|epoxygenase P450 pathway (GO:0019373)|exogenous drug catabolic process (GO:0042738)|omega-hydroxylase P450 pathway (GO:0097267)|organic acid metabolic process (GO:0006082)|oxidation-reduction process (GO:0055114)|oxidative demethylation (GO:0070989)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	aromatase activity (GO:0070330)|caffeine oxidase activity (GO:0034875)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)			breast(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|skin(3)	21		Colorectal(252;0.0397)		all cancers(201;6.21e-05)	Abiraterone(DB05812)|Acetaminophen(DB00316)|Acetylsalicylic acid(DB00945)|Almotriptan(DB00918)|Aminophenazone(DB01424)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amodiaquine(DB00613)|Amprenavir(DB00701)|Antipyrine(DB01435)|Apixaban(DB06605)|Atorvastatin(DB01076)|Azelastine(DB00972)|Benzyl alcohol(DB06770)|Bezafibrate(DB01393)|Bortezomib(DB00188)|Brompheniramine(DB00835)|Buprenorphine(DB00921)|Bupropion(DB01156)|Cabazitaxel(DB06772)|Caffeine(DB00201)|Candesartan(DB00796)|Carbamazepine(DB00564)|Carbinoxamine(DB00748)|Chloramphenicol(DB00446)|Chloroquine(DB00608)|Cholecalciferol(DB00169)|Cimetidine(DB00501)|Cisapride(DB00604)|Clopidogrel(DB00758)|Clotrimazole(DB00257)|Clozapine(DB00363)|Cocaine(DB00907)|Colchicine(DB01394)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dabrafenib(DB08912)|Dapsone(DB00250)|Delavirdine(DB00705)|Dexamethasone(DB01234)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Diazepam(DB00829)|Diclofenac(DB00586)|Diethylstilbestrol(DB00255)|Diltiazem(DB00343)|Domperidone(DB01184)|Eltrombopag(DB06210)|Enzalutamide(DB08899)|Erlotinib(DB00530)|Estradiol(DB00783)|Eszopiclone(DB00402)|Ethinyl Estradiol(DB00977)|Etoposide(DB00773)|Felodipine(DB01023)|Fenofibrate(DB01039)|Fluorouracil(DB00544)|Fluvastatin(DB01095)|Fosphenytoin(DB01320)|Gemfibrozil(DB01241)|Halofantrine(DB01218)|Hydrocortisone(DB00741)|Ibuprofen(DB01050)|Ifosfamide(DB01181)|Irbesartan(DB01029)|Isoniazid(DB00951)|Ketamine(DB01221)|Ketobemidone(DB06738)|Ketoconazole(DB01026)|Ketoprofen(DB01009)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Levomilnacipran(DB08918)|Levothyroxine(DB00451)|Lidocaine(DB00281)|Liotrix(DB01583)|Loperamide(DB00836)|Loratadine(DB00455)|Losartan(DB00678)|Lovastatin(DB00227)|Medroxyprogesterone Acetate(DB00603)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Methadone(DB00333)|Metronidazole(DB00916)|Mirtazapine(DB00370)|Mometasone(DB00764)|Montelukast(DB00471)|Morphine(DB00295)|Mycophenolate mofetil(DB00688)|Naloxone(DB01183)|Naproxen(DB00788)|Nicardipine(DB00622)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nilutamide(DB00665)|Nilvadipine(DB06712)|Omeprazole(DB00338)|Oxybutynin(DB01062)|Paclitaxel(DB01229)|Paramethadione(DB00617)|Paroxetine(DB00715)|Pazopanib(DB06589)|Pentamidine(DB00738)|Perphenazine(DB00850)|Phenelzine(DB00780)|Phenobarbital(DB01174)|Phenprocoumon(DB00946)|Phenytoin(DB00252)|Pioglitazone(DB01132)|Piroxicam(DB00554)|Pitavastatin(DB08860)|Ponatinib(DB08901)|Pravastatin(DB00175)|Primidone(DB00794)|Probenecid(DB01032)|Progesterone(DB00396)|Propafenone(DB01182)|Propofol(DB00818)|Pyrimethamine(DB00205)|Quinidine(DB00908)|Quinine(DB00468)|Raloxifene(DB00481)|Regorafenib(DB08896)|Repaglinide(DB00912)|Rifampicin(DB01045)|Rifapentine(DB01201)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Salmeterol(DB00938)|Saquinavir(DB01232)|Secobarbital(DB00418)|Selegiline(DB01037)|Simvastatin(DB00641)|Sitagliptin(DB01261)|Sorafenib(DB00398)|Spironolactone(DB00421)|Sulfadiazine(DB00359)|Sulfamethoxazole(DB01015)|Sulfaphenazole(DB06729)|Sulfinpyrazone(DB01138)|Tamoxifen(DB00675)|Tazarotene(DB00799)|Temazepam(DB00231)|Terbinafine(DB00857)|Testosterone(DB00624)|Theophylline(DB00277)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tioconazole(DB01007)|Tolbutamide(DB01124)|Torasemide(DB00214)|Trametinib(DB08911)|Tretinoin(DB00755)|Triazolam(DB00897)|Trimethadione(DB00347)|Trimethoprim(DB00440)|Troleandomycin(DB01361)|Valproic Acid(DB00313)|Verapamil(DB00661)|Vismodegib(DB08828)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zidovudine(DB00495)|Zopiclone(DB01198)	AGCATCAGTGTAAGGCATGTG	0.498																																						ENST00000371270.3																			0				breast(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|skin(3)	21						c.(1039-1041)tAc>tGc		cytochrome P450, family 2, subfamily C, polypeptide 8	Aminophenazone(DB01424)|Amiodarone(DB01118)|Amodiaquine(DB00613)|Benzphetamine(DB00865)|Carbamazepine(DB00564)|Cerivastatin(DB00439)|Diclofenac(DB00586)|Fluvastatin(DB01095)|Fosphenytoin(DB01320)|Gemfibrozil(DB01241)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Lovastatin(DB00227)|Midazolam(DB00683)|Montelukast(DB00471)|Nicardipine(DB00622)|Paclitaxel(DB01229)|Phenytoin(DB00252)|Pioglitazone(DB01132)|Repaglinide(DB00912)|Rifampin(DB01045)|Rosiglitazone(DB00412)|Simvastatin(DB00641)|Sitagliptin(DB01261)|Tolbutamide(DB01124)|Torasemide(DB00214)|Tretinoin(DB00755)|Trimethoprim(DB00440)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zopiclone(DB01198)						265	204	225					10																	96802756		2203	4300	6503	SO:0001583	missense	1558				exogenous drug catabolic process|organic acid metabolic process|oxidative demethylation|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|caffeine oxidase activity|electron carrier activity|heme binding|oxygen binding	g.chr10:96802756T>C	M17397	CCDS7438.1, CCDS55721.1, CCDS73166.1	10q24.1	2007-12-14	2003-01-14		ENSG00000138115	ENSG00000138115		"Cytochrome P450s"	2622	protein-coding gene	gene with protein product		601129	"cytochrome P450, subfamily IIC (mephenytoin 4-hydroxylase), polypeptide 8"			7841444	Standard	NM_001198853		Approved	CPC8	uc001kkb.3	P10632	OTTHUMG00000018804	ENST00000371270.3:c.1040A>G	10.37:g.96802756T>C	ENSP00000360317:p.Tyr347Cys					CYP2C8_ENST00000535898.1_Missense_Mutation_p.Y245C|CYP2C8_ENST00000539050.1_Missense_Mutation_p.Y261C	p.Y347C	NM_000770.3|NM_001198853.1|NM_001198855.1	NP_000761.3|NP_001185782.1|NP_001185784.1	P10632	CP2C8_HUMAN		all cancers(201;6.21e-05)	7	1134	-		Colorectal(252;0.0397)	347					A8K9N8|B0AZN2|B7Z1F6|Q5VX93|Q8WWB1|Q9UCZ9	Missense_Mutation	SNP	ENST00000371270.3	37	c.1040A>G	CCDS7438.1	.	.	.	.	.	.	.	.	.	.	T	12.73	2.024167	0.35701	.	.	ENSG00000138115	ENST00000371270;ENST00000535868;ENST00000535898;ENST00000539050	T;T;T	0.76186	-1.0;-1.0;-1.0	4.49	3.35	0.38373	.	0.078297	0.52532	U	0.000065	D	0.89667	0.6781	H	0.97806	4.08	0.35373	D	0.789196	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	D	0.91557	0.5261	10	0.87932	D	0	.	8.09	0.30795	0.0:0.0984:0.0:0.9016	.	261;245;315;347	F5H7Q9;B7Z1F6;B7Z8S1;P10632	.;.;.;CP2C8_HUMAN	C	347;314;245;261	ENSP00000360317:Y347C;ENSP00000445062:Y245C;ENSP00000442343:Y261C	ENSP00000360317:Y347C	Y	-	2	0	CYP2C8	96792746	1.000000	0.71417	0.875000	0.34327	0.265000	0.26407	1.469000	0.35343	0.753000	0.32945	0.477000	0.44152	TAC		0.498	CYP2C8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049499.2	NM_000770		31	79	0	0	0	1	0	31	79					C	96802756	T	C	96802756	3	2	360	1	0	0	0	0	1	0	0	0	4167	1638	57	4	444	4	CYP2C8	10	96802756	Missense_Mutation	SNP	T	TCGA-QU-A6IM-01A-11D-A31L-08	1732450	96802756	38731991	52	18021											
FGFR2	2263	broad.mit.edu	37	chr10	123256220	123256220	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cctttagaggcatactcaacTatgacatagagaggccctgt	12	10	9	10	0	1	3	1	1	0	2	1	4	1	3	2	2	2	1	2	2	5	5			TCGA-QU-A6IM-01A-11D-A31L-08	TCGA-QU-A6IM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c46bdf0-625f-4d00-ae75-b9e83d2fe3ea	84da4992-73f8-4179-bc14-13735496a930	g.chr10:123256220T>C	ENST00000358487.5	-	13	1961	c.1689A>G	c.(1687-1689)atA>atG	p.I563M	FGFR2_ENST00000360144.3_Missense_Mutation_p.I475M|FGFR2_ENST00000356226.4_Missense_Mutation_p.I446M|FGFR2_ENST00000478859.1_Missense_Mutation_p.I335M|FGFR2_ENST00000369060.4_Missense_Mutation_p.I447M|FGFR2_ENST00000369056.1_Missense_Mutation_p.I564M|FGFR2_ENST00000357555.5_Missense_Mutation_p.I474M|FGFR2_ENST00000457416.2_Missense_Mutation_p.I564M|FGFR2_ENST00000369061.4_Missense_Mutation_p.I451M|FGFR2_ENST00000369059.1_Missense_Mutation_p.I449M|FGFR2_ENST00000351936.6_Missense_Mutation_p.I561M|FGFR2_ENST00000346997.2_Missense_Mutation_p.I561M	NM_000141.4	NP_000132.3	P21802	FGFR2_HUMAN	fibroblast growth factor receptor 2	563	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|axonogenesis (GO:0007409)|bone development (GO:0060348)|bone mineralization (GO:0030282)|bone morphogenesis (GO:0060349)|branch elongation involved in salivary gland morphogenesis (GO:0060667)|branching involved in labyrinthine layer morphogenesis (GO:0060670)|branching involved in prostate gland morphogenesis (GO:0060442)|branching involved in salivary gland morphogenesis (GO:0060445)|branching morphogenesis of a nerve (GO:0048755)|bud elongation involved in lung branching (GO:0060449)|cell fate commitment (GO:0045165)|cell-cell signaling (GO:0007267)|coronal suture morphogenesis (GO:0060365)|digestive tract development (GO:0048565)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic organ development (GO:0048568)|embryonic organ morphogenesis (GO:0048562)|embryonic pattern specification (GO:0009880)|endodermal digestive tract morphogenesis (GO:0061031)|epidermal growth factor receptor signaling pathway (GO:0007173)|epidermis morphogenesis (GO:0048730)|epithelial cell differentiation (GO:0030855)|epithelial cell proliferation involved in salivary gland morphogenesis (GO:0060664)|epithelial to mesenchymal transition (GO:0001837)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|fibroblast growth factor receptor signaling pathway involved in hemopoiesis (GO:0035603)|fibroblast growth factor receptor signaling pathway involved in mammary gland specification (GO:0060595)|fibroblast growth factor receptor signaling pathway involved in negative regulation of apoptotic process in bone marrow (GO:0035602)|fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development (GO:0035607)|fibroblast growth factor receptor signaling pathway involved in positive regulation of cell proliferation in bone marrow (GO:0035604)|gland morphogenesis (GO:0022612)|hair follicle morphogenesis (GO:0031069)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inner ear morphogenesis (GO:0042472)|insulin receptor signaling pathway (GO:0008286)|lacrimal gland development (GO:0032808)|lateral sprouting from an epithelium (GO:0060601)|lens fiber cell development (GO:0070307)|limb bud formation (GO:0060174)|lung alveolus development (GO:0048286)|lung development (GO:0030324)|lung lobe morphogenesis (GO:0060463)|lung-associated mesenchyme development (GO:0060484)|mammary gland bud formation (GO:0060615)|membranous septum morphogenesis (GO:0003149)|mesenchymal cell differentiation (GO:0048762)|mesenchymal cell differentiation involved in lung development (GO:0060915)|mesenchymal cell proliferation involved in lung development (GO:0060916)|mesodermal cell differentiation (GO:0048333)|midbrain development (GO:0030901)|morphogenesis of embryonic epithelium (GO:0016331)|multicellular organism growth (GO:0035264)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of mitosis (GO:0045839)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuromuscular junction development (GO:0007528)|neurotrophin TRK receptor signaling pathway (GO:0048011)|odontogenesis (GO:0042476)|orbitofrontal cortex development (GO:0021769)|organ growth (GO:0035265)|organ morphogenesis (GO:0009887)|otic vesicle formation (GO:0030916)|outflow tract septum morphogenesis (GO:0003148)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial cell proliferation involved in lung morphogenesis (GO:0060501)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of Wnt signaling pathway (GO:0030177)|post-embryonic development (GO:0009791)|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis (GO:0060527)|prostate epithelial cord elongation (GO:0060523)|prostate gland morphogenesis (GO:0060512)|protein autophosphorylation (GO:0046777)|pyramidal neuron development (GO:0021860)|regulation of branching involved in prostate gland morphogenesis (GO:0060687)|regulation of cell fate commitment (GO:0010453)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|regulation of morphogenesis of a branching structure (GO:0060688)|regulation of multicellular organism growth (GO:0040014)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoblast proliferation (GO:0033688)|regulation of smooth muscle cell differentiation (GO:0051150)|regulation of smoothened signaling pathway (GO:0008589)|reproductive structure development (GO:0048608)|skeletal system morphogenesis (GO:0048705)|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development (GO:0060529)|synaptic vesicle transport (GO:0048489)|ureteric bud development (GO:0001657)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|ventricular zone neuroblast division (GO:0021847)	cell cortex (GO:0005938)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|excitatory synapse (GO:0060076)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|fibroblast growth factor binding (GO:0017134)|fibroblast growth factor-activated receptor activity (GO:0005007)|heparin binding (GO:0008201)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)			breast(3)|central_nervous_system(3)|cervix(2)|endometrium(98)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|lung(21)|ovary(4)|skin(30)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(2)	181		Lung NSC(174;0.0841)|all_lung(145;0.106)|all_neural(114;0.107)	STAD - Stomach adenocarcinoma(1;7.52e-05)|all cancers(1;0.0722)	all cancers(201;9.73e-05)|GBM - Glioblastoma multiforme(135;0.0845)	Palifermin(DB00039)|Ponatinib(DB08901)|Regorafenib(DB08896)|Thalidomide(DB01041)	CATACTCAACTATGACATAGA	0.498		5	Mis		"gastric. NSCLC, endometrial"		"Crouzon, Pfeiffer, and Apert syndromes"		Saethre-Chotzen syndrome;Apert syndrome																													ENST00000358487.5		5		Dom	yes		10	10q26	2263	Mis	fibroblast growth factor receptor 2	yes	"Crouzon, Pfeiffer, and Apert syndromes"	E			"gastric. NSCLC, endometrial"		0				breast(3)|central_nervous_system(3)|cervix(2)|endometrium(98)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|lung(21)|ovary(4)|skin(30)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(2)	181						c.(1687-1689)atA>atG		fibroblast growth factor receptor 2	Palifermin(DB00039)						77	80	79					10																	123256220		2203	4300	6503	SO:0001583	missense	2263	Saethre-Chotzen syndrome;Apert syndrome	Familial Cancer Database	Acrocephalosyndactyly type III;Acrocephalosyndactyly type I and II, ACS1. ACS2, incl Apert-Crouzon s.	angiogenesis|axonogenesis|bone mineralization|bone morphogenesis|branch elongation involved in salivary gland morphogenesis|branching involved in embryonic placenta morphogenesis|branching morphogenesis of a nerve|bud elongation involved in lung branching|cell fate commitment|cell growth|cell-cell signaling|cellular response to protein stimulus|embryonic digestive tract morphogenesis|embryonic pattern specification|epithelial cell proliferation involved in salivary gland morphogenesis|fibroblast growth factor receptor signaling pathway involved in hemopoiesis|fibroblast growth factor receptor signaling pathway involved in mammary gland specification|fibroblast growth factor receptor signaling pathway involved in negative regulation of apoptosis in bone marrow|fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development|fibroblast growth factor receptor signaling pathway involved in positive regulation of cell proliferation in bone marrow|hair follicle morphogenesis|insulin receptor signaling pathway|lacrimal gland development|lateral sprouting from an epithelium|limb bud formation|lung alveolus development|lung lobe morphogenesis|lung-associated mesenchyme development|mammary gland bud formation|membranous septum morphogenesis|mesenchymal cell differentiation involved in lung development|mesenchymal cell proliferation involved in lung development|midbrain development|multicellular organism growth|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|organ growth|otic vesicle formation|outflow tract septum morphogenesis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell cycle|positive regulation of cell division|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of ERK1 and ERK2 cascade|positive regulation of mesenchymal cell proliferation|positive regulation of transcription from RNA polymerase II promoter|post-embryonic development|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis|prostate epithelial cord elongation|pyramidal neuron development|regulation of branching involved in prostate gland morphogenesis|regulation of cell fate commitment|regulation of fibroblast growth factor receptor signaling pathway|regulation of multicellular organism growth|regulation of smooth muscle cell differentiation|regulation of smoothened signaling pathway|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development|ureteric bud development|ventricular cardiac muscle tissue morphogenesis|ventricular zone neuroblast division	cell cortex|cell surface|excitatory synapse|extracellular region|integral to membrane|nucleus|plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|heparin binding|protein binding	g.chr10:123256220T>C	AK026508	CCDS7620.2, CCDS31298.1, CCDS44485.1, CCDS44486.1, CCDS44487.1, CCDS44488.1, CCDS44489.1, CCDS53584.1, CCDS73210.1	10q25.3-q26	2013-01-11	2008-08-01		ENSG00000066468	ENSG00000066468		"CD molecules", "Immunoglobulin superfamily / I-set domain containing"	3689	protein-coding gene	gene with protein product	"Crouzon syndrome", "Pfeiffer syndrome"	176943	"bacteria-expressed kinase", "keratinocyte growth factor receptor", "craniofacial dysostosis 1", "Jackson-Weiss syndrome"	KGFR, BEK, CFD1, JWS			Standard	NM_022970		Approved	CEK3, TK14, TK25, ECT1, K-SAM, CD332	uc021pzy.1	P21802	OTTHUMG00000019175	ENST00000358487.5:c.1689A>G	10.37:g.123256220T>C	ENSP00000351276:p.Ile563Met					FGFR2_ENST00000351936.6_Missense_Mutation_p.I561M|FGFR2_ENST00000360144.3_Missense_Mutation_p.I475M|FGFR2_ENST00000346997.2_Missense_Mutation_p.I561M|FGFR2_ENST00000369056.1_Missense_Mutation_p.I564M|FGFR2_ENST00000478859.1_Missense_Mutation_p.I335M|FGFR2_ENST00000369060.4_Missense_Mutation_p.I447M|FGFR2_ENST00000356226.4_Missense_Mutation_p.I446M|FGFR2_ENST00000357555.5_Missense_Mutation_p.I474M|FGFR2_ENST00000369059.1_Missense_Mutation_p.I449M|FGFR2_ENST00000457416.2_Missense_Mutation_p.I564M|FGFR2_ENST00000369061.4_Missense_Mutation_p.I451M	p.I563M	NM_000141.4	NP_000132.3	P21802	FGFR2_HUMAN	STAD - Stomach adenocarcinoma(1;7.52e-05)|all cancers(1;0.0722)	all cancers(201;9.73e-05)|GBM - Glioblastoma multiforme(135;0.0845)	13	1961	-		Lung NSC(174;0.0841)|all_lung(145;0.106)|all_neural(114;0.107)	563			Protein kinase.		B4DFC2|E7EVR6|E9PCR0|P18443|Q01742|Q12922|Q14300|Q14301|Q14302|Q14303|Q14304|Q14305|Q14672|Q14718|Q14719|Q1KHY5|Q86YI4|Q8IXC7|Q96KL9|Q96KM0|Q96KM1|Q96KM2|Q9NZU2|Q9NZU3|Q9UD01|Q9UD02|Q9UIH3|Q9UIH4|Q9UIH5|Q9UIH6|Q9UIH7|Q9UIH8|Q9UM87|Q9UMC6|Q9UNS7|Q9UQH7|Q9UQH8|Q9UQH9|Q9UQI0	Missense_Mutation	SNP	ENST00000358487.5	37	c.1689A>G	CCDS31298.1	.	.	.	.	.	.	.	.	.	.	T	14.73	2.621929	0.46840	.	.	ENSG00000066468	ENST00000357555;ENST00000369062;ENST00000369061;ENST00000358487;ENST00000356226;ENST00000369060;ENST00000369059;ENST00000429361;ENST00000346997;ENST00000457416;ENST00000351936;ENST00000360144;ENST00000369056;ENST00000369058;ENST00000336553	D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.86366	-2.11;-2.11;-2.11;-2.11;-2.11;-2.11;-2.11;-2.11;-2.11;-2.11;-2.11;-2.11;-2.11;-2.11	5.28	-1.62	0.08372	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.130576	0.64402	D	0.000002	D	0.89891	0.6846	M	0.83774	2.66	0.58432	D	0.999998	B;B;D;P;P;D;P;P	0.65815	0.388;0.222;0.995;0.669;0.67;0.986;0.619;0.865	P;P;D;P;P;P;P;P	0.72338	0.859;0.531;0.977;0.578;0.802;0.827;0.656;0.796	D	0.84410	0.0565	10	0.87932	D	0	.	0.5814	0.00712	0.3372:0.1298:0.2001:0.3329	.	580;562;474;446;563;475;564;466	D3DRD5;P21802-18;P21802-21;P21802-20;P21802;P21802-22;P21802-17;D3DRD3	.;.;.;.;FGFR2_HUMAN;.;.;.	M	474;564;451;563;446;447;449;155;561;564;561;475;564;564;472	ENSP00000350166:I474M;ENSP00000358057:I451M;ENSP00000351276:I563M;ENSP00000348559:I446M;ENSP00000358056:I447M;ENSP00000358055:I449M;ENSP00000404219:I155M;ENSP00000263451:I561M;ENSP00000410294:I564M;ENSP00000309878:I561M;ENSP00000353262:I475M;ENSP00000358052:I564M;ENSP00000358054:I564M;ENSP00000337665:I472M	ENSP00000337665:I472M	I	-	3	3	FGFR2	123246210	0.142000	0.22610	0.950000	0.38849	0.677000	0.39632	-0.672000	0.05244	-0.238000	0.09724	0.449000	0.29647	ATA		0.498	FGFR2-001	KNOWN	non_canonical_conserved|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000050715.1	NM_022976, NM_000141		27	71	0	0	0	1	0	27	71					C	123256220	T	C	123256220	3	2	360	1	0	0	0	0	1	0	0	0	5866	1512	53	4	904	4	FGFR2	10	123256220	Missense_Mutation	SNP	T	TCGA-QU-A6IM-01A-11D-A31L-08	26453464	123256220	12278527	53	18022											
KNDC1	85442	broad.mit.edu	37	chr10	135024207	135024207	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cctgcacttcctcctcgaccGcatcaacagcacgctgacca	9	7	6	19	3	1	1	1	1	0	0	4	2	3	1	5	0	3	4	5	0	1	1			TCGA-QU-A6IM-01A-11D-A31L-08	TCGA-QU-A6IM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c46bdf0-625f-4d00-ae75-b9e83d2fe3ea	84da4992-73f8-4179-bc14-13735496a930	g.chr10:135024207G>A	ENST00000304613.3	+	21	3908	c.3887G>A	c.(3886-3888)cGc>cAc	p.R1296H	KNDC1_ENST00000368572.2_Missense_Mutation_p.R1298H			Q76NI1	VKIND_HUMAN	kinase non-catalytic C-lobe domain (KIND) containing 1	1296	N-terminal Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00135}.				cerebellar granule cell differentiation (GO:0021707)|positive regulation of protein phosphorylation (GO:0001934)|regulation of dendrite morphogenesis (GO:0048814)|small GTPase mediated signal transduction (GO:0007264)	dendrite (GO:0030425)|guanyl-nucleotide exchange factor complex (GO:0032045)|neuronal cell body (GO:0043025)	protein serine/threonine kinase activity (GO:0004674)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)	p.R1296H(1)		NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	60		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)		CTCCTCGACCGCATCAACAGC	0.622																																						ENST00000304613.3																			1	Substitution - Missense(1)	p.R1296H(1)	kidney(1)	NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	60						c.(3886-3888)cGc>cAc		kinase non-catalytic C-lobe domain (KIND) containing 1							256	200	219					10																	135024207		2203	4300	6503	SO:0001583	missense	85442				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction			g.chr10:135024207G>A	AK074179	CCDS7674.1	10q26.3	2004-09-14	2004-04-07		ENSG00000171798	ENSG00000171798			29374	protein-coding gene	gene with protein product			"RasGEF domain family, member 2"	RASGEF2, C10orf23		11214970	Standard	NM_152643		Approved	KIAA1768, bB439H18.3, FLJ25027	uc001llz.1	Q76NI1	OTTHUMG00000019303	ENST00000304613.3:c.3887G>A	10.37:g.135024207G>A	ENSP00000304437:p.Arg1296His					KNDC1_ENST00000368572.2_Missense_Mutation_p.R1298H	p.R1296H			Q76NI1	VKIND_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)	21	3908	+		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)	1296			N-terminal Ras-GEF.		B0QZC5|Q5T233|Q6ZNH8|Q8TEE5|Q96LV7|Q9C095	Missense_Mutation	SNP	ENST00000304613.3	37	c.3887G>A	CCDS7674.1	.	.	.	.	.	.	.	.	.	.	G	17.04	3.288083	0.59976	.	.	ENSG00000171798	ENST00000304613;ENST00000368572	T;T	0.60040	0.22;0.22	3.77	3.77	0.43336	Ras guanine nucleotide exchange factor, domain (1);Ras-like guanine nucleotide exchange factor, N-terminal (3);	0.147145	0.42548	U	0.000681	T	0.66636	0.2809	L	0.57536	1.79	0.36990	D	0.89472	D	0.64830	0.994	P	0.57846	0.828	T	0.74702	-0.3576	10	0.54805	T	0.06	-30.0194	13.5176	0.61549	0.0:0.0:1.0:0.0	.	1296	Q76NI1	VKIND_HUMAN	H	1296;1298	ENSP00000304437:R1296H;ENSP00000357561:R1298H	ENSP00000304437:R1296H	R	+	2	0	KNDC1	134874197	1.000000	0.71417	1.000000	0.80357	0.426000	0.31534	2.579000	0.46059	1.856000	0.53863	0.196000	0.17591	CGC		0.622	KNDC1-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000277044.3	NM_152643		4	185	0	0	0	1	0	4	185					A	135024207	G	A	135024207	3	1	360	1	0	0	0	0	1	0	0	0	8426	1087	38	1	3969	1	KNDC1	10	135024207	Missense_Mutation	SNP	G	TCGA-QU-A6IM-01A-11D-A31L-08	11767987	135024207	510540	54	18023											
FAM55A	120400	broad.mit.edu	37	chr11	114401240	114401240	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cagagtgaagctgaccaggtAggtgccattgttgaagtcca	11	9	13	8	0	0	4	0	3	0	1	1	4	1	4	3	2	2	3	3	2	3	3			TCGA-QU-A6IM-01A-11D-A31L-08	TCGA-QU-A6IM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c46bdf0-625f-4d00-ae75-b9e83d2fe3ea	84da4992-73f8-4179-bc14-13735496a930	g.chr11:114401240A>T	ENST00000424269.1	-	2	489	c.490T>A	c.(490-492)Tac>Aac	p.Y164N	NXPE1_ENST00000536312.1_Missense_Mutation_p.Y164N|NXPE1_ENST00000251921.2_Missense_Mutation_p.Y22N|NXPE1_ENST00000536271.1_5'Flank			Q8N323	NXPE1_HUMAN	neurexophilin and PC-esterase domain family, member 1	164						extracellular region (GO:0005576)											CTGACCAGGTAGGTGCCATTG	0.587																																						ENST00000536312.1																			0											c.(490-492)Tac>Aac		neurexophilin and PC-esterase domain family, member 1							80	86	84					11																	114401240		2201	4296	6497	SO:0001583	missense	120400							g.chr11:114401240A>T	BC029049	CCDS8372.1	11q23.2	2012-06-14	2012-06-11	2012-06-11	ENSG00000095110	ENSG00000095110			28527	protein-coding gene	gene with protein product			"family with sequence similarity 55, member A"	FAM55A		12477932	Standard	NM_152315		Approved	MGC34290	uc001ppa.3	Q8N323	OTTHUMG00000168284	ENST00000424269.1:c.490T>A	11.37:g.114401240A>T	ENSP00000411690:p.Tyr164Asn					NXPE1_ENST00000251921.2_Missense_Mutation_p.Y22N|NXPE1_ENST00000424269.1_Missense_Mutation_p.Y164N	p.Y164N							6	1382	-								B0YJ13	Missense_Mutation	SNP	ENST00000424269.1	37	c.490T>A		.	.	.	.	.	.	.	.	.	.	A	13.79	2.342585	0.41498	.	.	ENSG00000095110	ENST00000251921;ENST00000424269;ENST00000536312	T;T;D	0.85258	0.51;0.2;-1.96	4.52	3.38	0.38709	.	0.000000	0.51477	D	0.000094	D	0.93539	0.7938	H	0.95114	3.625	0.36035	D	0.839658	D	0.89917	1.0	D	0.87578	0.998	D	0.94614	0.7807	10	0.87932	D	0	.	8.8038	0.34925	0.9059:0.0:0.0941:0.0	.	164	F5H6W7	.	N	22;164;164	ENSP00000251921:Y22N;ENSP00000411690:Y164N;ENSP00000442984:Y164N	ENSP00000251921:Y22N	Y	-	1	0	FAM55A	113906450	1.000000	0.71417	1.000000	0.80357	0.089000	0.18198	4.400000	0.59709	0.822000	0.34565	0.533000	0.62120	TAC		0.587	NXPE1-201	KNOWN	basic	protein_coding	protein_coding		NM_152315		27	60	0	0	0	1	0	27	60					T	114401240	A	T	114401240	3	4	360	1	0	0	0	0	1	0	0	0	5584	420	15	5	1169	5	FAM55A	11	114401240	Missense_Mutation	SNP	A	TCGA-QU-A6IM-01A-11D-A31L-08		114401240	20605276	55	18024											
FGF23	8074	broad.mit.edu	37	chr12	4479847	4479847	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caggaaggctctcttcgcccGgcccagactgaccaggaagt	9	6	12	14	2	1	2	0	1	1	1	3	4	1	4	3	4	0	1	3	4	2	1			TCGA-QU-A6IM-01A-11D-A31L-08	TCGA-QU-A6IM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c46bdf0-625f-4d00-ae75-b9e83d2fe3ea	84da4992-73f8-4179-bc14-13735496a930	g.chr12:4479847G>A	ENST00000237837.1	-	3	563	c.418C>T	c.(418-420)Cgg>Tgg	p.R140W		NM_020638.2	NP_065689.1	Q9GZV9	FGF23_HUMAN	fibroblast growth factor 23	140					cell differentiation (GO:0030154)|cellular phosphate ion homeostasis (GO:0030643)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|negative regulation of bone mineralization (GO:0030502)|negative regulation of hormone secretion (GO:0046888)|negative regulation of osteoblast differentiation (GO:0045668)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphate ion homeostasis (GO:0055062)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway (GO:0090080)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of vitamin D 24-hydroxylase activity (GO:0010980)|regulation of phosphate transport (GO:0010966)|vitamin D catabolic process (GO:0042369)	extracellular region (GO:0005576)|extracellular space (GO:0005615)		p.R140W(1)		NS(1)|breast(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	22			Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)|STAD - Stomach adenocarcinoma(119;0.206)			CTCTTCGCCCGGCCCAGACTG	0.577																																						ENST00000237837.1																			1	Substitution - Missense(1)	p.R140W(1)	ovary(1)	NS(1)|breast(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	22						c.(418-420)Cgg>Tgg		fibroblast growth factor 23							99	99	99					12																	4479847		2203	4300	6503	SO:0001583	missense	8074				cell differentiation|insulin receptor signaling pathway|negative regulation of bone mineralization|negative regulation of hormone secretion|negative regulation of osteoblast differentiation|positive regulation of vitamin D 24-hydroxylase activity|regulation of phosphate transport|vitamin D catabolic process	extracellular space	growth factor activity	g.chr12:4479847G>A	AF263537	CCDS8526.1	12p13	2008-07-04			ENSG00000118972	ENSG00000118972			3680	protein-coding gene	gene with protein product		605380				11032749, 18310961	Standard	NM_020638		Approved		uc001qmq.1	Q9GZV9	OTTHUMG00000168241	ENST00000237837.1:c.418C>T	12.37:g.4479847G>A	ENSP00000237837:p.Arg140Trp						p.R140W	NM_020638.2	NP_065689.1	Q9GZV9	FGF23_HUMAN	Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)|STAD - Stomach adenocarcinoma(119;0.206)		3	563	-			140					Q4V758	Missense_Mutation	SNP	ENST00000237837.1	37	c.418C>T	CCDS8526.1	.	.	.	.	.	.	.	.	.	.	G	14.34	2.507600	0.44558	.	.	ENSG00000118972	ENST00000237837	D	0.88354	-2.37	4.88	2.83	0.33086	.	0.283234	0.40908	N	0.001000	D	0.90724	0.7089	M	0.78637	2.42	0.19300	N	0.999971	D	0.69078	0.997	P	0.54590	0.756	D	0.83433	0.0039	10	0.72032	D	0.01	-7.1689	7.5214	0.27631	0.0:0.1252:0.4131:0.4617	.	140	Q9GZV9	FGF23_HUMAN	W	140	ENSP00000237837:R140W	ENSP00000237837:R140W	R	-	1	2	FGF23	4350108	0.994000	0.37717	0.709000	0.30452	0.253000	0.25986	3.197000	0.51028	1.229000	0.43630	0.549000	0.68633	CGG		0.577	FGF23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398936.1			50	153	0	0	0	1	0	50	153					A	4479847	G	A	4479847	3	1	360	1	0	0	0	0	1	0	0	0	5852	1115	39	2	341	2	FGF23	12	4479847	Missense_Mutation	SNP	G	TCGA-QU-A6IM-01A-11D-A31L-08		4479847	129372048	56	18025											
A2ML1	144568	broad.mit.edu	37	chr12	9013852	9013852	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tggggaaatggacatcagaaAcattctccttaaacagttag	15	10	9	7	0	2	1	1	0	1	1	3	3	2	3	1	3	2	1	1	3	5	3			TCGA-QU-A6IM-01A-11D-A31L-08	TCGA-QU-A6IM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c46bdf0-625f-4d00-ae75-b9e83d2fe3ea	84da4992-73f8-4179-bc14-13735496a930	g.chr12:9013852A>C	ENST00000299698.7	+	28	3641	c.3461A>C	c.(3460-3462)aAc>aCc	p.N1154T	A2ML1_ENST00000539547.1_Missense_Mutation_p.N663T	NM_001282424.1|NM_144670.4	NP_001269353.1|NP_653271			alpha-2-macroglobulin-like 1											NS(2)|breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(2)|lung(36)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	80						GACATCAGAAACATTCTCCTT	0.448																																						ENST00000299698.7																			0				NS(2)|breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(2)|lung(36)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	80						c.(3460-3462)aAc>aCc		alpha-2-macroglobulin-like 1							161	157	158					12																	9013852		1923	4127	6050	SO:0001583	missense	144568					extracellular space	endopeptidase inhibitor activity	g.chr12:9013852A>C	AK057908	CCDS8596.2, CCDS73439.1	12p13	2010-12-14	2005-09-01	2005-09-01	ENSG00000166535	ENSG00000166535			23336	protein-coding gene	gene with protein product		610627	"C3 and PZP-like, alpha-2-macroglobulin domain containing 9"	CPAMD9		16298998	Standard	NM_144670		Approved	FLJ25179	uc001quz.5	A8K2U0	OTTHUMG00000128499	ENST00000299698.7:c.3461A>C	12.37:g.9013852A>C	ENSP00000299698:p.Asn1154Thr					A2ML1_ENST00000539547.1_Missense_Mutation_p.N663T	p.N1154T	NM_144670.4	NP_653271.2	B3KVV6	B3KVV6_HUMAN			28	3641	+			998						Missense_Mutation	SNP	ENST00000299698.7	37	c.3461A>C	CCDS8596.2	.	.	.	.	.	.	.	.	.	.	A	1.272	-0.612721	0.03690	.	.	ENSG00000166535	ENST00000299698;ENST00000539161;ENST00000541459;ENST00000539547	T;T;T	0.32023	1.47;1.47;1.47	3.76	1.36	0.22044	Terpenoid cylases/protein prenyltransferase alpha-alpha toroid (1);A-macroglobulin complement component (1);	0.896444	0.09592	N	0.781393	T	0.23289	0.0563	L	0.38175	1.15	0.09310	N	1	B	0.13594	0.008	B	0.17979	0.02	T	0.27606	-1.0069	10	0.48119	T	0.1	.	6.3435	0.21337	0.7775:0.0:0.2225:0.0	.	1154	A8K2U0	A2ML1_HUMAN	T	1154;1154;704;663	ENSP00000299698:N1154T;ENSP00000443174:N704T;ENSP00000438292:N663T	ENSP00000299698:N1154T	N	+	2	0	A2ML1	8905119	0.000000	0.05858	0.016000	0.15963	0.094000	0.18550	0.317000	0.19487	0.176000	0.19873	0.460000	0.39030	AAC		0.448	A2ML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250304.3	NM_144670		25	92	0	0	0	1	0	25	92					C	9013852	A	C	9013852	3	2	360	1	0	0	0	0	1	0	0	0	5	43	2	5	3571	5	A2ML1	12	9013852	Missense_Mutation	SNP	A	TCGA-QU-A6IM-01A-11D-A31L-08	4534005	9013852	124838043	57	18026											
CCT2	10576	broad.mit.edu	37	chr12	69985925	69985925	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttgcaaatactggtatggatAcagacaaaataaaggtatgt	17	11	9	4	0	0	1	0	0	0	1	0	2	0	2	0	3	3	3	0	3	9	6			TCGA-QU-A6IM-01A-11D-A31L-08	TCGA-QU-A6IM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c46bdf0-625f-4d00-ae75-b9e83d2fe3ea	84da4992-73f8-4179-bc14-13735496a930	g.chr12:69985925A>T	ENST00000299300.6	+	8	924	c.736A>T	c.(736-738)Aca>Tca	p.T246S	CCT2_ENST00000543146.2_Missense_Mutation_p.T199S|CCT2_ENST00000544368.2_Missense_Mutation_p.T246S	NM_006431.2	NP_006422.1	P78371	TCPB_HUMAN	chaperonin containing TCP1, subunit 2 (beta)	246					'de novo' posttranslational protein folding (GO:0051084)|binding of sperm to zona pellucida (GO:0007339)|cellular protein metabolic process (GO:0044267)|chaperone-mediated protein complex assembly (GO:0051131)|protein folding (GO:0006457)	cell body (GO:0044297)|chaperonin-containing T-complex (GO:0005832)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|zona pellucida receptor complex (GO:0002199)	ATP binding (GO:0005524)|unfolded protein binding (GO:0051082)			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(2)|stomach(1)	24	all_cancers(2;7.7e-106)|Breast(13;2.15e-06)|Esophageal squamous(21;0.187)		Epithelial(6;2.72e-18)|GBM - Glioblastoma multiforme(2;2.58e-10)|Lung(24;0.000185)|OV - Ovarian serous cystadenocarcinoma(12;0.00126)|STAD - Stomach adenocarcinoma(21;0.00501)|Kidney(9;0.143)|LUSC - Lung squamous cell carcinoma(43;0.24)			TGGTATGGATACAGACAAAAT	0.333																																						ENST00000543146.2																			0				central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(2)|stomach(1)	24						c.(595-597)Aca>Tca		chaperonin containing TCP1, subunit 2 (beta)							57	65	62					12																	69985925		2203	4299	6502	SO:0001583	missense	10576				'de novo' posttranslational protein folding	nucleus	ATP binding|unfolded protein binding	g.chr12:69985925A>T	AF026293	CCDS8991.1, CCDS55843.1	12q14	2011-09-02						"Heat Shock Proteins / Chaperonins"	1615	protein-coding gene	gene with protein product		605139				9819444	Standard	NM_001198842		Approved	Cctb	uc001svb.1	P78371	OTTHUMG00000169383	ENST00000299300.6:c.736A>T	12.37:g.69985925A>T	ENSP00000299300:p.Thr246Ser					CCT2_ENST00000299300.6_Missense_Mutation_p.T246S|CCT2_ENST00000544368.2_Missense_Mutation_p.T246S	p.T199S	NM_001198842.1	NP_001185771.1	P78371	TCPB_HUMAN	Epithelial(6;2.72e-18)|GBM - Glioblastoma multiforme(2;2.58e-10)|Lung(24;0.000185)|OV - Ovarian serous cystadenocarcinoma(12;0.00126)|STAD - Stomach adenocarcinoma(21;0.00501)|Kidney(9;0.143)|LUSC - Lung squamous cell carcinoma(43;0.24)		8	1077	+	all_cancers(2;7.7e-106)|Breast(13;2.15e-06)|Esophageal squamous(21;0.187)		246					A8K402|B5BTY7|B7Z243|B7Z7K4|B7ZAT2|Q14D36|Q6IAT3	Missense_Mutation	SNP	ENST00000299300.6	37	c.595A>T	CCDS8991.1	.	.	.	.	.	.	.	.	.	.	A	16.48	3.135793	0.56828	.	.	ENSG00000166226	ENST00000299300;ENST00000544368;ENST00000543146	T;T;T	0.67345	-0.26;-0.26;-0.26	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	T	0.66127	0.2758	L	0.58354	1.805	0.80722	D	1	B;B	0.30709	0.062;0.291	B;B	0.35899	0.057;0.213	T	0.63314	-0.6665	9	.	.	.	-22.188	15.524	0.75887	1.0:0.0:0.0:0.0	.	246;246	F5GWF6;P78371	.;TCPB_HUMAN	S	246;246;199	ENSP00000299300:T246S;ENSP00000441847:T246S;ENSP00000445471:T199S	.	T	+	1	0	CCT2	68272192	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.425000	0.73370	2.137000	0.66172	0.460000	0.39030	ACA		0.333	CCT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403818.1	NM_006431		24	45	0	0	0	1	0	24	45					T	69985925	A	T	69985925	3	4	360	1	0	0	0	0	1	0	0	0	2953	391	14	5	766	5	CCT2	12	69985925	Missense_Mutation	SNP	A	TCGA-QU-A6IM-01A-11D-A31L-08	60972073	69985925	63865970	58	18027											
ATXN2	6311	broad.mit.edu	37	chr12	111954061	111954061	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcgaggggggcctggagggCggccgtgtaggggtggctgc	3	5	24	9	4	0	0	0	0	0	0	0	2	0	1	2	9	1	2	2	9	1	1			TCGA-QU-A6IM-01A-11D-A31L-08	TCGA-QU-A6IM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c46bdf0-625f-4d00-ae75-b9e83d2fe3ea	84da4992-73f8-4179-bc14-13735496a930	g.chr12:111954061C>A	ENST00000377617.3	-	10	1913	c.1752G>T	c.(1750-1752)ccG>ccT	p.P584P	ATXN2_ENST00000535949.1_Silent_p.P295P|ATXN2_ENST00000608853.1_Silent_p.P424P|ATXN2_ENST00000389153.4_Silent_p.P319P|ATXN2_ENST00000542287.2_Silent_p.P319P|ATXN2_ENST00000550104.1_Silent_p.P584P	NM_002973.3	NP_002964.3	Q99700	ATX2_HUMAN	ataxin 2	584	Pro-rich.				cell death (GO:0008219)|cerebellar Purkinje cell differentiation (GO:0021702)|cytoplasmic mRNA processing body assembly (GO:0033962)|homeostasis of number of cells (GO:0048872)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of receptor internalization (GO:0002091)|neuromuscular process (GO:0050905)|neuron projection morphogenesis (GO:0048812)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA transport (GO:0050658)|stress granule assembly (GO:0034063)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|polysome (GO:0005844)|ribonucleoprotein complex (GO:0030529)|trans-Golgi network (GO:0005802)	epidermal growth factor receptor binding (GO:0005154)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)|RNA binding (GO:0003723)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	37						GCCTGGAGGGCGGCCGTGTAG	0.637																																						ENST00000377617.3																			0				NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	37						c.(1750-1752)ccG>ccT		ataxin 2							34	37	36					12																	111954061		2203	4300	6503	SO:0001819	synonymous_variant	6311				cell death|cytoplasmic mRNA processing body assembly|regulation of translation|RNA metabolic process|RNA transport|stress granule assembly	nucleus|perinuclear region of cytoplasm|polysome|stress granule|trans-Golgi network	protein C-terminus binding|RNA binding	g.chr12:111954061C>A	U80749	CCDS31902.1	12q23-q24.1	2014-09-17	2004-08-12	2004-08-13	ENSG00000204842	ENSG00000204842		"Ataxins"	10555	protein-coding gene	gene with protein product	"trinucleotide repeat containing 13"	601517	"spinocerebellar ataxia 2 (olivopontocerebellar ataxia 2, autosomal dominant, ataxin 2)"	SCA2, TNRC13		8358438, 9225980	Standard	NM_002973		Approved	ATX2	uc001tsj.3	Q99700	OTTHUMG00000133475	ENST00000377617.3:c.1752G>T	12.37:g.111954061C>A						ATXN2_ENST00000389153.4_Silent_p.P319P|ATXN2_ENST00000542287.2_Silent_p.P319P|ATXN2_ENST00000535949.1_Silent_p.P295P|ATXN2_ENST00000550104.1_Silent_p.P584P	p.P584P	NM_002973.3	NP_002964.3	Q99700	ATX2_HUMAN			10	1913	-			584			Pro-rich.		A6NLD4|Q6ZQZ7|Q99493	Silent	SNP	ENST00000377617.3	37	c.1752G>T	CCDS31902.1																																																																																				0.637	ATXN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257351.3	NM_002973		8	26	1	0	0.00448238	1	0.00460689	8	26					A	111954061	C	A	111954061	2	1	360	1	0	0	0	0	0	0	0	1	1211	755	27	5		5	ATXN2	12	111954061	Silent	SNP	C	TCGA-QU-A6IM-01A-11D-A31L-08	41968136	111954061	21897834	59	18028											
NID2	22795	broad.mit.edu	37	chr14	52520476	52520476	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggtagggctggatgcttccgTtttcggggtacggtggtggg	3	12	20	6	3	0	0	0	0	0	0	2	1	1	1	1	8	2	5	1	8	2	5			TCGA-QU-A6IM-01A-11D-A31L-08	TCGA-QU-A6IM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c46bdf0-625f-4d00-ae75-b9e83d2fe3ea	84da4992-73f8-4179-bc14-13735496a930	g.chr14:52520476T>C	ENST00000216286.5	-	5	1249	c.1250A>G	c.(1249-1251)aAc>aGc	p.N417S	NID2_ENST00000541773.1_Missense_Mutation_p.N364S	NM_007361.3	NP_031387.3	Q14112	NID2_HUMAN	nidogen 2 (osteonidogen)	417					basement membrane organization (GO:0071711)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|cell surface (GO:0009986)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)			NS(1)|breast(5)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(40)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	87	Breast(41;0.0639)|all_epithelial(31;0.123)					GATGCTTCCGTTTTCGGGGTA	0.557																																						ENST00000216286.5																			0				NS(1)|breast(5)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(40)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	87						c.(1249-1251)aAc>aGc		nidogen 2 (osteonidogen)							96	89	91					14																	52520476		2203	4300	6503	SO:0001583	missense	22795					basement membrane	calcium ion binding|collagen binding	g.chr14:52520476T>C	AB009799	CCDS9706.1	14q22.1	2008-05-14			ENSG00000087303	ENSG00000087303			13389	protein-coding gene	gene with protein product		605399				9733643	Standard	NM_007361		Approved		uc001wzo.3	Q14112	OTTHUMG00000140298	ENST00000216286.5:c.1250A>G	14.37:g.52520476T>C	ENSP00000216286:p.Asn417Ser					NID2_ENST00000541773.1_Missense_Mutation_p.N364S	p.N417S	NM_007361.3	NP_031387.3	Q14112	NID2_HUMAN			5	1249	-	Breast(41;0.0639)|all_epithelial(31;0.123)		417					A8K6I7|B4DU19|O43710	Missense_Mutation	SNP	ENST00000216286.5	37	c.1250A>G	CCDS9706.1	.	.	.	.	.	.	.	.	.	.	T	1.042	-0.678569	0.03378	.	.	ENSG00000087303	ENST00000216286;ENST00000541773;ENST00000395707	D;D	0.83075	-1.68;-1.57	3.75	-1.95	0.07548	.	1.425290	0.04775	N	0.428736	T	0.68274	0.2983	N	0.19112	0.55	0.09310	N	1	B;B;B	0.18863	0.026;0.031;0.004	B;B;B	0.17098	0.017;0.014;0.004	T	0.49523	-0.8931	10	0.24483	T	0.36	.	4.6987	0.12816	0.0:0.2825:0.1575:0.56	.	364;419;417	Q14112-2;Q5CZI2;Q14112	.;.;NID2_HUMAN	S	417;364;419	ENSP00000216286:N417S;ENSP00000443730:N364S	ENSP00000216286:N417S	N	-	2	0	NID2	51590226	0.000000	0.05858	0.000000	0.03702	0.055000	0.15305	0.099000	0.15210	-0.614000	0.05687	0.460000	0.39030	AAC		0.557	NID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276888.1			31	83	0	0	0	1	0	31	83					C	52520476	T	C	52520476	3	2	360	1	0	0	0	0	1	0	0	0	10415	1725	60	4	2949	4	NID2	14	52520476	Missense_Mutation	SNP	T	TCGA-QU-A6IM-01A-11D-A31L-08		52520476	54829064	60	18029											
OR1G1	8390	broad.mit.edu	37	chr17	3030696	3030696	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtatggagttgagtgtcagtAatgatgactagaatgatgag	13	12	14	2	0	1	6	1	5	0	1	1	7	1	7	0	1	0	3	0	1	4	4			TCGA-QU-A6IM-01A-11D-A31L-08	TCGA-QU-A6IM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c46bdf0-625f-4d00-ae75-b9e83d2fe3ea	84da4992-73f8-4179-bc14-13735496a930	g.chr17:3030696A>T	ENST00000328890.2	-	1	179	c.150T>A	c.(148-150)atT>atA	p.I50I		NM_003555.1	NP_003546.1	P47890	OR1G1_HUMAN	olfactory receptor, family 1, subfamily G, member 1	50					signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			kidney(1)|large_intestine(4)|lung(3)|skin(3)	11						GAGTGTCAGTAATGATGACTA	0.517																																					Colon(127;1481 1654 8243 19426 50557)	ENST00000328890.2																			0				kidney(1)|large_intestine(4)|lung(3)|skin(3)	11						c.(148-150)atT>atA		olfactory receptor, family 1, subfamily G, member 1							113	100	105					17																	3030696		2203	4300	6503	SO:0001819	synonymous_variant	8390				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr17:3030696A>T	U04689	CCDS11020.1	17p13.3	2012-08-09			ENSG00000183024	ENSG00000183024		"GPCR / Class A : Olfactory receptors"	8204	protein-coding gene	gene with protein product				OR1G2		8004088, 9500546	Standard	NM_003555		Approved	OR17-209	uc002fvc.1	P47890	OTTHUMG00000090618	ENST00000328890.2:c.150T>A	17.37:g.3030696A>T							p.I50I	NM_003555.1	NP_003546.1	P47890	OR1G1_HUMAN			1	179	-			50					Q4VBM1|Q6IFL9|Q9UM76	Silent	SNP	ENST00000328890.2	37	c.150T>A	CCDS11020.1																																																																																				0.517	OR1G1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207206.2			35	98	0	0	0	1	0	35	98					T	3030696	A	T	3030696	2	4	360	1	0	0	0	0	0	0	0	1	10957	358	13	5		5	OR1G1	17	3030696	Silent	SNP	A	TCGA-QU-A6IM-01A-11D-A31L-08		3030696	78164514	61	18030											
DERL2	51009	broad.mit.edu	37	chr17	5383387	5383387	+	Frame_Shift_Del	DEL	T	T	-																															tactcacaaaatagatggtgTtttcagaattcttattccac																										TCGA-QU-A6IM-01A-11D-A31L-08	TCGA-QU-A6IM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c46bdf0-625f-4d00-ae75-b9e83d2fe3ea	84da4992-73f8-4179-bc14-13735496a930	g.chr17:5383387delT	ENST00000158771.4	-	6	656	c.601delA	c.(601-603)acafs	p.T201fs	DERL2_ENST00000570848.1_3'UTR|DERL2_ENST00000572834.1_3'UTR|DERL2_ENST00000571968.1_5'Flank	NM_016041.3	NP_057125.2	Q9GZP9	DERL2_HUMAN	derlin 2	201					endoplasmic reticulum unfolded protein response (GO:0030968)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|positive regulation of cell growth (GO:0030307)|positive regulation of cell proliferation (GO:0008284)|retrograde protein transport, ER to cytosol (GO:0030970)|suckling behavior (GO:0001967)	early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|integral component of endoplasmic reticulum membrane (GO:0030176)|late endosome (GO:0005770)|membrane (GO:0016020)				large_intestine(3)	3						ATAGATGGTGTTTTCAGAATT	0.398																																						ENST00000158771.4																			0				large_intestine(3)	3						c.(601-603)cafs		derlin 2							95	99	98					17																	5383387		2203	4300	6503	SO:0001589	frameshift_variant	51009				endoplasmic reticulum unfolded protein response|ER-associated protein catabolic process|positive regulation of cell growth|positive regulation of cell proliferation|retrograde protein transport, ER to cytosol	integral to endoplasmic reticulum membrane	protein binding	g.chr17:5383387delT	BC010890	CCDS11073.1	17p13.2	2012-02-01	2012-02-01		ENSG00000072849	ENSG00000072849			17943	protein-coding gene	gene with protein product		610304	"Der1-like domain family, member 2"			10810093, 11500051	Standard	NM_016041		Approved	F-LAN-1, FLANa, F-LANa, CGI-101, derlin-2	uc002gcc.1	Q9GZP9	OTTHUMG00000102040	ENST00000158771.4:c.601delA	17.37:g.5383387delT	ENSP00000158771:p.Thr201fs					DERL2_ENST00000572834.1_3'UTR|DERL2_ENST00000570848.1_3'UTR	p.T201fs	NM_016041.3	NP_057125.2	Q9GZP9	DERL2_HUMAN			6	656	-			201					Q9Y3A7	Frame_Shift_Del	DEL	ENST00000158771.4	37	c.601delA	CCDS11073.1																																																																																				0.398	DERL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219825.1	NM_016041		28	80						28	80	---	---	---	---	-	5383387	T	-	5383387	7	5	360	1	0	1	0	1	0	0	0	0	4447	1725	60	0	126	0	DERL2	17	5383387	Frame_Shift_Del	DEL	T	TCGA-QU-A6IM-01A-11D-A31L-08	2352691	5383387	75811823	62	18031											
TEKT3	64518	broad.mit.edu	37	chr17	15234581	15234581	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcgggaagtgttggactcttGatagttggttaaattggacc	9	14	13	5	1	1	1	0	1	1	0	2	4	1	4	1	4	0	3	1	4	4	6			TCGA-QU-A6IM-01A-11D-A31L-08	TCGA-QU-A6IM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c46bdf0-625f-4d00-ae75-b9e83d2fe3ea	84da4992-73f8-4179-bc14-13735496a930	g.chr17:15234581G>C	ENST00000395930.1	-	3	508	c.322C>G	c.(322-324)Caa>Gaa	p.Q108E	TEKT3_ENST00000338696.2_Missense_Mutation_p.Q108E	NM_031898.2	NP_114104.1	Q9BXF9	TEKT3_HUMAN	tektin 3	108					cilium morphogenesis (GO:0060271)|regulation of fertilization (GO:0080154)|sperm motility (GO:0030317)	acrosomal membrane (GO:0002080)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|nucleus (GO:0005634)|sperm flagellum (GO:0036126)				endometrium(1)|kidney(3)|large_intestine(5)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	23				UCEC - Uterine corpus endometrioid carcinoma (92;0.0877)		TTGGACTCTTGATAGTTGGTT	0.423																																						ENST00000395930.1																			0				endometrium(1)|kidney(3)|large_intestine(5)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	23						c.(322-324)Caa>Gaa		tektin 3							251	229	236					17																	15234581		2203	4300	6503	SO:0001583	missense	64518				microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule		g.chr17:15234581G>C	AF334676	CCDS11169.1	17p12	2011-05-23			ENSG00000125409	ENSG00000125409			14293	protein-coding gene	gene with protein product		612683				11381029, 14735490	Standard	NM_031898		Approved	FLJ32828	uc002gon.3	Q9BXF9	OTTHUMG00000058965	ENST00000395930.1:c.322C>G	17.37:g.15234581G>C	ENSP00000379263:p.Gln108Glu					TEKT3_ENST00000338696.2_Missense_Mutation_p.Q108E	p.Q108E	NM_031898.2	NP_114104.1	Q9BXF9	TEKT3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.0877)	3	508	-			108					B2RAS7|D3DTT0|Q8N5R5|Q96M48	Missense_Mutation	SNP	ENST00000395930.1	37	c.322C>G	CCDS11169.1	.	.	.	.	.	.	.	.	.	.	G	11.36	1.616859	0.28801	.	.	ENSG00000125409	ENST00000395930;ENST00000338696;ENST00000536146;ENST00000539316	T;T;T;T	0.29142	4.32;4.32;4.32;1.58	5.4	3.09	0.35607	.	0.383494	0.33327	N	0.005029	T	0.25827	0.0629	L	0.59436	1.845	0.25404	N	0.988413	B	0.10296	0.003	B	0.16722	0.016	T	0.30090	-0.9990	10	0.06757	T	0.87	-0.3753	11.9293	0.52837	0.0:0.0:0.4198:0.5802	.	108	Q9BXF9	TEKT3_HUMAN	E	108	ENSP00000379263:Q108E;ENSP00000343995:Q108E;ENSP00000446111:Q108E;ENSP00000439713:Q108E	ENSP00000343995:Q108E	Q	-	1	0	TEKT3	15175306	1.000000	0.71417	0.026000	0.17262	0.561000	0.35649	2.476000	0.45171	1.375000	0.46248	0.655000	0.94253	CAA		0.423	TEKT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130385.2	NM_031898		17	162	0	0	0	1	0	17	162					C	15234581	G	C	15234581	3	2	360	1	0	0	0	0	1	0	0	0	15751	1299	45	5	1178	5	TEKT3	17	15234581	Missense_Mutation	SNP	G	TCGA-QU-A6IM-01A-11D-A31L-08	9851194	15234581	65960629	63	18032											
NT5M	56953	broad.mit.edu	37	chr17	17250218	17250218	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgcaggctgcactcgtgggCggacgactggaaggccattc	7	6	15	13	4	0	0	0	0	0	0	2	3	0	2	2	5	1	3	2	5	1	1			TCGA-QU-A6IM-01A-11D-A31L-08	TCGA-QU-A6IM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c46bdf0-625f-4d00-ae75-b9e83d2fe3ea	84da4992-73f8-4179-bc14-13735496a930	g.chr17:17250218C>T	ENST00000389022.4	+	5	860	c.644C>T	c.(643-645)gCg>gTg	p.A215V	NT5M_ENST00000582909.1_3'UTR	NM_020201.3	NP_064586.1	Q9NPB1	NT5M_HUMAN	5',3'-nucleotidase, mitochondrial	215					dephosphorylation (GO:0016311)|DNA replication (GO:0006260)|dUMP catabolic process (GO:0046079)|nucleobase-containing small molecule metabolic process (GO:0055086)|pyrimidine deoxyribonucleotide catabolic process (GO:0009223)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	5'-nucleotidase activity (GO:0008253)|metal ion binding (GO:0046872)|nucleotidase activity (GO:0008252)|nucleotide binding (GO:0000166)			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)	4						CACTCGTGGGCGGACGACTGG	0.692																																						ENST00000389022.4																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(1)	4						c.(643-645)gCg>gTg		5',3'-nucleotidase, mitochondrial							37	44	41					17																	17250218		2203	4300	6503	SO:0001583	missense	56953				DNA replication|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	mitochondrial matrix	5'-nucleotidase activity|metal ion binding|nucleotide binding	g.chr17:17250218C>T	AF210652	CCDS32581.1	17p11.2	2007-08-01	2002-05-23		ENSG00000205309	ENSG00000205309	3.1.3.5		15769	protein-coding gene	gene with protein product		605292	"5' nucleotidase, mitochondrial"			10899995	Standard	XM_005256731		Approved	dNT-2, dNT2, mdN	uc002grf.3	Q9NPB1	OTTHUMG00000059277	ENST00000389022.4:c.644C>T	17.37:g.17250218C>T	ENSP00000373674:p.Ala215Val					NT5M_ENST00000582909.1_3'UTR	p.A215V	NM_020201.3	NP_064586.1	Q9NPB1	NT5M_HUMAN			5	860	+			215						Missense_Mutation	SNP	ENST00000389022.4	37	c.644C>T	CCDS32581.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.90|13.90	2.373759|2.373759	0.42105|0.42105	.|.	.|.	ENSG00000205309|ENSG00000205309	ENST00000389022|ENST00000446264	T|.	0.46063|.	0.88|.	5.79|5.79	4.83|4.83	0.62350|0.62350	HAD-like domain (2);|.	.|0.046090	.|0.85682	.|D	.|0.000000	T|T	0.28400|0.28400	0.0702|0.0702	N|N	0.22421|0.22421	0.69|0.69	0.24219|0.24219	N|N	0.995444|0.995444	P;P|B	0.43826|0.18741	0.818;0.818|0.03	B;B|B	0.26094|0.12156	0.066;0.066|0.007	T|T	0.23619|0.23619	-1.0183|-1.0183	9|9	0.48119|0.87932	T|D	0.1|0	-11.509|-11.509	8.6278|8.6278	0.33899|0.33899	0.1507:0.7724:0.0:0.0769|0.1507:0.7724:0.0:0.0769	.|.	221;215|214	Q2I378;Q9NPB1|F6S3X3	.;NT5M_HUMAN|.	V|W	215|214	ENSP00000373674:A215V|.	ENSP00000373674:A215V|ENSP00000390695:R214W	A|R	+|+	2|1	0|2	NT5M|NT5M	17190943|17190943	0.285000|0.285000	0.24296|0.24296	0.897000|0.897000	0.35233|0.35233	0.154000|0.154000	0.21943|0.21943	1.325000|1.325000	0.33724|0.33724	1.449000|1.449000	0.47699|0.47699	0.561000|0.561000	0.74099|0.74099	GCG|CGG		0.692	NT5M-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446045.1			24	57	0	0	0	1	0	24	57					T	17250218	C	T	17250218	3	4	360	1	0	0	0	0	1	0	0	0	10694	768	27	1	662	1	NT5M	17	17250218	Missense_Mutation	SNP	C	TCGA-QU-A6IM-01A-11D-A31L-08	2015637	17250218	63944992	64	18033											
SPOP	8405	broad.mit.edu	37	chr17	47696644	47696644	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	attcaggatggagaatttgaAttttgcccgaacttcactct	11	14	8	8	1	3	2	2	1	1	1	3	5	3	3	1	2	2	0	1	2	3	5			TCGA-QU-A6IM-01A-11D-A31L-08	TCGA-QU-A6IM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c46bdf0-625f-4d00-ae75-b9e83d2fe3ea	84da4992-73f8-4179-bc14-13735496a930	g.chr17:47696644A>C	ENST00000393328.2	-	5	669	c.304T>G	c.(304-306)Ttc>Gtc	p.F102V	SPOP_ENST00000503676.1_Missense_Mutation_p.F102V|SPOP_ENST00000347630.2_Missense_Mutation_p.F102V|SPOP_ENST00000393331.3_Missense_Mutation_p.F102V|SPOP_ENST00000513080.1_5'Flank|SPOP_ENST00000504102.1_Missense_Mutation_p.F102V	NM_003563.3	NP_003554.1	O43791	SPOP_HUMAN	speckle-type POZ protein	102	MATH. {ECO:0000255|PROSITE- ProRule:PRU00129}.|Required for nuclear localization.				glucose homeostasis (GO:0042593)|positive regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902237)|positive regulation of type B pancreatic cell apoptotic process (GO:2000676)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	Cul3-RING ubiquitin ligase complex (GO:0031463)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	ubiquitin protein ligase binding (GO:0031625)			endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						GAGAATTTGAATTTTGCCCGA	0.408										Prostate(2;0.17)																												ENST00000393331.3																			0				endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						c.(304-306)Ttc>Gtc		speckle-type POZ protein							147	136	140					17																	47696644		2203	4300	6503	SO:0001583	missense	8405				mRNA processing	nucleus	protein binding	g.chr17:47696644A>C	AJ000644	CCDS11551.1	17q21.33	2013-01-09			ENSG00000121067	ENSG00000121067		"BTB/POZ domain containing"	11254	protein-coding gene	gene with protein product		602650				9414087	Standard	NM_001007227		Approved	TEF2, BTBD32	uc002ipg.3	O43791	OTTHUMG00000161496	ENST00000393328.2:c.304T>G	17.37:g.47696644A>C	ENSP00000377001:p.Phe102Val	Prostate(2;0.17)				SPOP_ENST00000504102.1_Missense_Mutation_p.F102V|SPOP_ENST00000503676.1_Missense_Mutation_p.F102V|SPOP_ENST00000393328.2_Missense_Mutation_p.F102V|SPOP_ENST00000347630.2_Missense_Mutation_p.F102V	p.F102V	NM_001007226.1|NM_001007227.1	NP_001007227.1|NP_001007228.1	O43791	SPOP_HUMAN			6	774	-			102			MATH.|Required for nuclear localization.		B2R6S3|D3DTW7|Q53HJ1	Missense_Mutation	SNP	ENST00000393328.2	37	c.304T>G	CCDS11551.1	.	.	.	.	.	.	.	.	.	.	A	23.9	4.465429	0.84425	.	.	ENSG00000121067	ENST00000393328;ENST00000393331;ENST00000347630;ENST00000504102;ENST00000503676;ENST00000513872;ENST00000509079;ENST00000505581;ENST00000507970;ENST00000514121;ENST00000515508	T;T;T;T;T;T;T;T;T;T	0.66815	-0.23;-0.23;-0.23;-0.23;-0.23;-0.23;-0.23;-0.23;-0.23;-0.23	5.52	5.52	0.82312	TRAF-type (1);TRAF-like (1);MATH (3);	0.000000	0.85682	D	0.000000	T	0.77046	0.4073	L	0.48986	1.54	0.80722	D	1	D	0.76494	0.999	D	0.78314	0.991	T	0.75869	-0.3165	10	0.39692	T	0.17	-11.8278	15.4649	0.75390	1.0:0.0:0.0:0.0	.	102	O43791	SPOP_HUMAN	V	102;102;102;102;102;55;102;102;102;102;102	ENSP00000377001:F102V;ENSP00000377004:F102V;ENSP00000240327:F102V;ENSP00000425905:F102V;ENSP00000420908:F102V;ENSP00000426986:F102V;ENSP00000420960:F102V;ENSP00000426262:F102V;ENSP00000424119:F102V;ENSP00000426537:F102V	ENSP00000240327:F102V	F	-	1	0	SPOP	45051643	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.135000	0.94478	2.317000	0.78254	0.460000	0.39030	TTC		0.408	SPOP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365154.2	NM_003563		30	37	0	0	0	1	0	30	37					C	47696644	A	C	47696644	3	2	360	1	0	0	0	0	1	0	0	0	15083	101	4	5	848	5	SPOP	17	47696644	Missense_Mutation	SNP	A	TCGA-QU-A6IM-01A-11D-A31L-08	30446426	47696644	33498566	65	18034											
DNAH17	8632	broad.mit.edu	37	chr17	76497832	76497832	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggcgctcatgccttggccaCgatcattttggccaccacgt	6	10	11	14	3	2	0	2	0	0	0	2	1	2	0	4	3	1	1	4	3	0	3	rs369607138	byFrequency	TCGA-QU-A6IM-01A-11D-A31L-08	TCGA-QU-A6IM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c46bdf0-625f-4d00-ae75-b9e83d2fe3ea	84da4992-73f8-4179-bc14-13735496a930	g.chr17:76497832C>T	ENST00000585328.1	-	34	5429	c.5305G>A	c.(5305-5307)Gtg>Atg	p.V1769M	DNAH17-AS1_ENST00000598378.1_3'UTR|DNAH17_ENST00000389840.5_Splice_Site|RP11-559N14.5_ENST00000591373.1_RNA	NM_173628.3	NP_775899.3	Q9UFH2	DYH17_HUMAN	dynein, axonemal, heavy chain 17	1761	Stem. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			GCCTTGGCCACGATCATTTTG	0.617													C|||	40	0.00798722	0	0	5008	,	,		20801	0		0	False		,,,				2504	0.0409					ENST00000585328.1																			0				NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116						c.(5305-5307)Gtg>Atg		dynein, axonemal, heavy chain 17		C	MET/VAL	0,4250		0,0,2125	116	116	116		5314	-5.1	0.7	17		116	1,8451		0,1,4225	no	missense	DNAH17	NM_173628.3	21	0,1,6350	TT,TC,CC		0.0118,0.0,0.0079		1772/4463	76497832	1,12701	2125	4226	6351	SO:0001583	missense	8632							g.chr17:76497832C>T	AJ000522		17q25.3	2012-04-19	2006-09-04		ENSG00000187775	ENSG00000187775		"Axonemal dyneins"	2946	protein-coding gene	gene with protein product		610063	"dynein, axonemal, heavy polypeptide 17", "dynein, axonemal, heavy chain like 1", "dynein, axonemal, heavy like 1"	DNAHL1		9545504	Standard	NM_173628		Approved	DNEL2, FLJ40457	uc010dhp.2	Q9UFH2		ENST00000585328.1:c.5305G>A	17.37:g.76497832C>T	ENSP00000465516:p.Val1769Met					DNAH17_ENST00000389840.5_Splice_Site|DNAH17-AS1_ENST00000598378.1_3'UTR	p.V1769M	NM_173628.3	NP_775899.3			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)		34	5429	-								O00431|O15206|Q2M2Y1|Q6ZRQ2|Q8N7Q7	Missense_Mutation	SNP	ENST00000585328.1	37	c.5305G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	0.899|0.899	-0.722828|-0.722828	0.03158|0.03158	0.0|0.0	1.18E-4|1.18E-4	ENSG00000187775|ENSG00000187775	ENST00000389840|ENST00000300671	.|.	.|.	.|.	4.65|4.65	-5.12|-5.12	0.02893|0.02893	.|.	.|.	.|.	.|.	.|.	.|T	.|0.73521	.|0.3597	H|H	0.98980|0.98980	4.39|4.39	0.23180|0.23180	N|N	0.998165|0.998165	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.67341	.|-0.5695	.|6	.|0.87932	.|D	.|0	.|.	3.6523|3.6523	0.08208|0.08208	0.0934:0.1475:0.3903:0.3687|0.0934:0.1475:0.3903:0.3687	.|.	.|.	.|.	.|.	.|M	-1|1769	.|.	.|ENSP00000300671:V1769M	.|V	-|-	.|1	.|0	DNAH17|DNAH17	74009427|74009427	.|.	.|.	0.677000|0.677000	0.29947|0.29947	0.237000|0.237000	0.25408|0.25408	.|.	.|.	-0.199000|-0.199000	0.10317|0.10317	-1.129000|-1.129000	0.01985|0.01985	.|GTG		0.617	DNAH17-001	PUTATIVE	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000318962.2	NM_173628		4	143	0	0	0	1	0	4	143					T	76497832	C	T	76497832	3	4	360	1	0	0	0	0	1	0	0	0	4601	536	19	1	8266	1	DNAH17	17	76497832	Missense_Mutation	SNP	C	TCGA-QU-A6IM-01A-11D-A31L-08	28801188	76497832	4697378	66	18035											
CPLX4	339302	broad.mit.edu	37	chr18	56985676	56985676	+	Frame_Shift_Del	DEL	T	T	-																															tacctggttacttatcatacTtttcataaggaaagccattt																										TCGA-QU-A6IM-01A-11D-A31L-08	TCGA-QU-A6IM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c46bdf0-625f-4d00-ae75-b9e83d2fe3ea	84da4992-73f8-4179-bc14-13735496a930	g.chr18:56985676delT	ENST00000299721.3	-	1	205	c.19delA	c.(19-21)agtfs	p.S7fs	CPLX4_ENST00000587244.1_Frame_Shift_Del_p.S7fs	NM_181654.3	NP_857637.1	Q7Z7G2	CPLX4_HUMAN	complexin 4	7					exocytosis (GO:0006887)|neurotransmitter transport (GO:0006836)|regulation of neurotransmitter secretion (GO:0046928)	cell junction (GO:0030054)|membrane (GO:0016020)|synapse (GO:0045202)				autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)	16		Colorectal(73;0.175)				CTTATCATACTTTTCATAAGG	0.378																																						ENST00000299721.3																			0				autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)	16						c.(19-21)gtfs		complexin 4							93	86	88					18																	56985676		2203	4300	6503	SO:0001589	frameshift_variant	339302				exocytosis|neurotransmitter transport	cell junction|synapse	syntaxin binding	g.chr18:56985676delT	AY286502	CCDS11973.1	18q21.32	2005-08-02			ENSG00000166569	ENSG00000166569			24330	protein-coding gene	gene with protein product		609586				15911881	Standard	NM_181654		Approved	CPX-IV	uc002lhy.3	Q7Z7G2	OTTHUMG00000132756	ENST00000299721.3:c.19delA	18.37:g.56985676delT	ENSP00000299721:p.Ser7fs					CPLX4_ENST00000587244.1_Frame_Shift_Del_p.S7fs	p.S7fs	NM_181654.3	NP_857637.1	Q7Z7G2	CPLX4_HUMAN			1	205	-		Colorectal(73;0.175)	7					F1T0L6	Frame_Shift_Del	DEL	ENST00000299721.3	37	c.19delA	CCDS11973.1																																																																																				0.378	CPLX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256127.1	NM_181654		14	34						14	34	---	---	---	---	-	56985676	T	-	56985676	7	5	360	1	0	1	0	1	0	0	0	0	3807	1609	56	0	475	0	CPLX4	18	56985676	Frame_Shift_Del	DEL	T	TCGA-QU-A6IM-01A-11D-A31L-08		56985676	21091572	67	18036											
NFATC1	4772	broad.mit.edu	37	chr18	77208864	77208864	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ccgcctgctgcgcccgcacgCcttctaccaggtgcaccgca	5	6	10	20	5	1	0	0	0	1	0	1	0	1	0	6	1	4	4	6	1	1	2			TCGA-QU-A6IM-01A-11D-A31L-08	TCGA-QU-A6IM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c46bdf0-625f-4d00-ae75-b9e83d2fe3ea	84da4992-73f8-4179-bc14-13735496a930	g.chr18:77208864C>G	ENST00000427363.2	+	4	1469	c.1469C>G	c.(1468-1470)gCc>gGc	p.A490G	NFATC1_ENST00000545796.1_Missense_Mutation_p.A18G|NFATC1_ENST00000253506.5_Missense_Mutation_p.A490G|NFATC1_ENST00000329101.4_Missense_Mutation_p.A477G|NFATC1_ENST00000318065.5_Missense_Mutation_p.A477G|NFATC1_ENST00000592223.1_Missense_Mutation_p.A477G|NFATC1_ENST00000587635.1_Missense_Mutation_p.A490G|NFATC1_ENST00000542384.1_Missense_Mutation_p.A490G|NFATC1_ENST00000591814.1_Missense_Mutation_p.A490G|NFATC1_ENST00000586434.1_Missense_Mutation_p.A477G|NFATC1_ENST00000397790.2_Missense_Mutation_p.A18G			O95644	NFAC1_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 1	490	RHD. {ECO:0000255|PROSITE- ProRule:PRU00265}.				calcium ion transport (GO:0006816)|epithelial to mesenchymal transition (GO:0001837)|Fc-epsilon receptor signaling pathway (GO:0038095)|G1/S transition of mitotic cell cycle (GO:0000082)|heart development (GO:0007507)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|osteoclast differentiation (GO:0030316)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	FK506 binding (GO:0005528)|mitogen-activated protein kinase p38 binding (GO:0048273)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(1)|soft_tissue(1)	40		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;3.73e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0257)	Pseudoephedrine(DB00852)	CGCCCGCACGCCTTCTACCAG	0.612																																					GBM(151;1210 2593 28719 45011)	ENST00000253506.5																			0				NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(1)|soft_tissue(1)	40						c.(1468-1470)gCc>gGc		nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 1							82	71	75					18																	77208864		2203	4300	6503	SO:0001583	missense	4772				intracellular signal transduction|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleus	FK506 binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	g.chr18:77208864C>G	U08015	CCDS12015.1, CCDS12016.1, CCDS32850.1, CCDS59326.1, CCDS59327.1, CCDS62467.1, CCDS62468.1, CCDS62469.1, CCDS62470.1, CCDS62471.1	18q23	2009-11-24			ENSG00000131196	ENSG00000131196		"Nuclear factor of activated T-cells"	7775	protein-coding gene	gene with protein product		600489				8202141	Standard	NM_001278669		Approved	NF-ATC, NFATc, NFAT2	uc002lnf.3	O95644	OTTHUMG00000132897	ENST00000427363.2:c.1469C>G	18.37:g.77208864C>G	ENSP00000389377:p.Ala490Gly					NFATC1_ENST00000318065.5_Missense_Mutation_p.A477G|NFATC1_ENST00000397790.2_Missense_Mutation_p.A18G|NFATC1_ENST00000587635.1_Missense_Mutation_p.A490G|NFATC1_ENST00000592223.1_Missense_Mutation_p.A477G|NFATC1_ENST00000591814.1_Missense_Mutation_p.A490G|NFATC1_ENST00000586434.1_Missense_Mutation_p.A477G|NFATC1_ENST00000329101.4_Missense_Mutation_p.A477G|NFATC1_ENST00000545796.1_Missense_Mutation_p.A18G|NFATC1_ENST00000542384.1_Missense_Mutation_p.A490G|NFATC1_ENST00000427363.2_Missense_Mutation_p.A490G	p.A490G	NM_006162.3	NP_006153.2	O95644	NFAC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;3.73e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0257)	4	1838	+		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)	490			RHD.		B5B2M4|B5B2M5|B5B2M6|B5B2M7|B5B2M8|B5B2M9|B5B2N1|Q12865|Q15793|Q2M1S3	Missense_Mutation	SNP	ENST00000427363.2	37	c.1469C>G		.	.	.	.	.	.	.	.	.	.	C	21.5	4.154325	0.78114	.	.	ENSG00000131196	ENST00000318065;ENST00000253506;ENST00000397790;ENST00000542384;ENST00000329101;ENST00000545796;ENST00000427363;ENST00000397794	T;T;T;T;T	0.49720	0.77;0.77;0.77;0.77;0.77	4.31	4.31	0.51392	Rel homology (3);p53-like transcription factor, DNA-binding (1);	0.114877	0.64402	D	0.000014	T	0.61476	0.2350	L	0.49778	1.585	0.58432	D	0.999999	D;D;D;D;D;D;D	0.64830	0.994;0.994;0.973;0.993;0.993;0.989;0.973	P;P;P;P;P;D;P	0.63033	0.876;0.876;0.815;0.891;0.891;0.91;0.815	T	0.66614	-0.5879	10	0.87932	D	0	-30.9756	16.9798	0.86324	0.0:1.0:0.0:0.0	.	477;477;490;490;490;477;490	B5B2M7;B5B2N1;B5B2M6;O95644;B5B2M4;B5B2M5;Q2M1S3	.;.;.;NFAC1_HUMAN;.;.;.	G	490;490;18;490;477;18;477;454	ENSP00000253506:A490G;ENSP00000380892:A18G;ENSP00000442435:A490G;ENSP00000327850:A477G;ENSP00000439992:A18G	ENSP00000253506:A490G	A	+	2	0	NFATC1	75309852	1.000000	0.71417	1.000000	0.80357	0.835000	0.47333	5.494000	0.66905	2.230000	0.72887	0.561000	0.74099	GCC		0.612	NFATC1-007	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000450507.1	NM_172390		31	63	0	0	0	1	0	31	63					G	77208864	C	G	77208864	3	3	360	1	0	0	0	0	1	0	0	0	10361	739	26	5	1575	5	NFATC1	18	77208864	Missense_Mutation	SNP	C	TCGA-QU-A6IM-01A-11D-A31L-08	20223188	77208864	868384	68	18037											
CYP4F12	66002	broad.mit.edu	37	chr19	15791307	15791307	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtcctatataacgatcttcaAcaagagtgcaaacatcatgc	15	10	6	10	1	3	1	2	0	1	1	4	2	4	1	1	0	5	1	1	0	6	4			TCGA-QU-A6IM-01A-11D-A31L-08	TCGA-QU-A6IM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c46bdf0-625f-4d00-ae75-b9e83d2fe3ea	84da4992-73f8-4179-bc14-13735496a930	g.chr19:15791307A>C	ENST00000550308.1	+	5	883	c.503A>C	c.(502-504)aAc>aCc	p.N168T	CYP4F12_ENST00000324632.10_Missense_Mutation_p.N168T	NM_023944.3	NP_076433	Q9HCS2	CP4FC_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 12	168					arachidonic acid metabolic process (GO:0019369)|drug metabolic process (GO:0017144)|epoxygenase P450 pathway (GO:0019373)|leukotriene B4 catabolic process (GO:0036101)|long-chain fatty acid metabolic process (GO:0001676)|negative regulation of blood coagulation (GO:0030195)|oxidation-reduction process (GO:0055114)|pressure natriuresis (GO:0003095)|renal water homeostasis (GO:0003091)|small molecule metabolic process (GO:0044281)|sodium ion homeostasis (GO:0055078)|very long-chain fatty acid metabolic process (GO:0000038)|vitamin E metabolic process (GO:0042360)|vitamin K biosynthetic process (GO:0042371)|xenobiotic metabolic process (GO:0006805)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)	alkane 1-monooxygenase activity (GO:0018685)|arachidonic acid epoxygenase activity (GO:0008392)|aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|leukotriene-B4 20-monooxygenase activity (GO:0050051)|vitamin-K-epoxide reductase (warfarin-sensitive) activity (GO:0047057)			NS(1)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	41	Acute lymphoblastic leukemia(2;0.0367)				Fingolimod(DB08868)	ACGATCTTCAACAAGAGTGCA	0.532																																						ENST00000550308.1																			0				NS(1)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	41						c.(502-504)aAc>aCc		cytochrome P450, family 4, subfamily F, polypeptide 12							51	51	51					19																	15791307		2203	4300	6503	SO:0001583	missense	66002							g.chr19:15791307A>C	AB035130	CCDS42517.1	19p13.1	2008-02-05	2003-01-14		ENSG00000186204	ENSG00000186204		"Cytochrome P450s"	18857	protein-coding gene	gene with protein product		611485	"cytochrome P450, subfamily IVF, polypeptide 12"			11162607	Standard	NM_023944		Approved		uc002nbl.3	Q9HCS2	OTTHUMG00000164477	ENST00000550308.1:c.503A>C	19.37:g.15791307A>C	ENSP00000448998:p.Asn168Thr					CYP4F12_ENST00000324632.9_Missense_Mutation_p.N168T	p.N168T	NM_023944.3	NP_076433.3					5	883	+	Acute lymphoblastic leukemia(2;0.0367)							E7ET51|O60389|Q5JPJ7|Q9HCS1	Missense_Mutation	SNP	ENST00000550308.1	37	c.503A>C	CCDS42517.1	.	.	.	.	.	.	.	.	.	.	.	9.115	1.007502	0.19199	.	.	ENSG00000186204	ENST00000550308;ENST00000324632	T;T	0.68765	-0.35;-0.35	2.76	-1.01	0.10169	.	0.067360	0.56097	U	0.000031	T	0.70692	0.3253	M	0.70787	2.145	0.31690	N	0.641982	P;B	0.45212	0.853;0.066	P;B	0.58266	0.836;0.364	T	0.68784	-0.5317	10	0.48119	T	0.1	.	4.4713	0.11714	0.4879:0.3849:0.1272:0.0	.	168;168	B4E270;Q9HCS2	.;CP4FC_HUMAN	T	168	ENSP00000448998:N168T;ENSP00000321821:N168T	ENSP00000321821:N168T	N	+	2	0	CYP4F12	15652307	0.350000	0.24878	0.116000	0.21606	0.007000	0.05969	0.820000	0.27323	-0.131000	0.11578	0.260000	0.18958	AAC		0.532	CYP4F12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378938.9			12	38	0	0	0	1	0	12	38					C	15791307	A	C	15791307	3	2	360	1	0	0	0	0	1	0	0	0	4187	43	2	5	517	5	CYP4F12	19	15791307	Missense_Mutation	SNP	A	TCGA-QU-A6IM-01A-11D-A31L-08		15791307	43337676	69	18038											
ZNF98	148198	broad.mit.edu	37	chr19	22575729	22575729	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcagtatcactttttggaaaTaattttttttgccctgcttt	8	21	5	7	0	2	0	2	0	0	0	2	1	2	1	1	1	2	2	1	1	3	9			TCGA-QU-A6IM-01A-11D-A31L-08	TCGA-QU-A6IM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c46bdf0-625f-4d00-ae75-b9e83d2fe3ea	84da4992-73f8-4179-bc14-13735496a930	g.chr19:22575729T>A	ENST00000357774.5	-	4	429	c.308A>T	c.(307-309)tAt>tTt	p.Y103F		NM_001098626.1	NP_001092096.1	A6NK75	ZNF98_HUMAN	zinc finger protein 98	103					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	37		all_cancers(12;0.0536)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00542)|Hepatocellular(1079;0.244)				TTTTTGGAAATAATTTTTTTT	0.303																																						ENST00000357774.5																			0				central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	37						c.(307-309)tAt>tTt		zinc finger protein 98							42	34	36					19																	22575729		1868	4125	5993	SO:0001583	missense	148198				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:22575729T>A		CCDS46031.1	19p12	2014-02-14	2010-04-20	2008-06-12	ENSG00000197360	ENSG00000197360		"Zinc fingers, C2H2-type", "-"	13174	protein-coding gene	gene with protein product	"zinc finger protein 739"	603980					Standard	NM_001098626		Approved	ZNF739, F7175	uc002nqt.2	A6NK75	OTTHUMG00000182940	ENST00000357774.5:c.308A>T	19.37:g.22575729T>A	ENSP00000350418:p.Tyr103Phe						p.Y103F	NM_001098626.1	NP_001092096.1	A6NK75	ZNF98_HUMAN			4	429	-		all_cancers(12;0.0536)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00542)|Hepatocellular(1079;0.244)	103						Missense_Mutation	SNP	ENST00000357774.5	37	c.308A>T	CCDS46031.1	.	.	.	.	.	.	.	.	.	.	.	2.125	-0.400432	0.04865	.	.	ENSG00000197360	ENST00000357774	T	0.06218	3.33	0.916	-0.309	0.12769	.	.	.	.	.	T	0.03348	0.0097	N	0.22421	0.69	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.47018	-0.9149	9	0.19590	T	0.45	.	1.3545	0.02179	0.3466:0.2994:0.0:0.354	.	103	A6NK75	ZNF98_HUMAN	F	103	ENSP00000350418:Y103F	ENSP00000350418:Y103F	Y	-	2	0	ZNF98	22367569	0.000000	0.05858	0.166000	0.22797	0.164000	0.22412	-0.494000	0.06451	0.257000	0.21650	0.254000	0.18369	TAT		0.303	ZNF98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464398.1	NM_001098626		6	21	0	0	0	1	0	6	21					A	22575729	T	A	22575729	3	1	360	1	0	0	0	0	1	0	0	0	18200	1406	49	5	1414	5	ZNF98	19	22575729	Missense_Mutation	SNP	T	TCGA-QU-A6IM-01A-11D-A31L-08	6784422	22575729	36553254	70	18039											
SIPA1L3	23094	broad.mit.edu	37	chr19	38684211	38684211	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gggcctgcagcggacgctgtCggacgagagcctgtgcagcg	6	5	18	12	5	0	1	0	0	0	1	1	4	0	3	2	3	5	3	2	3	0	0			TCGA-QU-A6IM-01A-11D-A31L-08	TCGA-QU-A6IM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c46bdf0-625f-4d00-ae75-b9e83d2fe3ea	84da4992-73f8-4179-bc14-13735496a930	g.chr19:38684211C>T	ENST00000222345.6	+	18	5140	c.4631C>T	c.(4630-4632)tCg>tTg	p.S1544L		NM_015073.1	NP_055888.1	O60292	SI1L3_HUMAN	signal-induced proliferation-associated 1 like 3	1544					hematopoietic progenitor cell differentiation (GO:0002244)|regulation of small GTPase mediated signal transduction (GO:0051056)	extracellular space (GO:0005615)	GTPase activator activity (GO:0005096)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			CGGACGCTGTCGGACGAGAGC	0.697																																						ENST00000222345.6																			0				NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59						c.(4630-4632)tCg>tTg		signal-induced proliferation-associated 1 like 3							11	12	12					19																	38684211		2187	4282	6469	SO:0001583	missense	23094				regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity	g.chr19:38684211C>T	AB011117	CCDS33007.1	19q13.13	2008-02-05			ENSG00000105738	ENSG00000105738			23801	protein-coding gene	gene with protein product							Standard	XM_005258671		Approved	KIAA0545	uc002ohk.3	O60292	OTTHUMG00000073727	ENST00000222345.6:c.4631C>T	19.37:g.38684211C>T	ENSP00000222345:p.Ser1544Leu						p.S1544L	NM_015073.1	NP_055888.1	O60292	SI1L3_HUMAN	Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)		18	5140	+			1544					Q2TV87	Missense_Mutation	SNP	ENST00000222345.6	37	c.4631C>T	CCDS33007.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.225582	0.79576	.	.	ENSG00000105738	ENST00000222345	T	0.58506	0.33	5.33	5.33	0.75918	.	0.000000	0.85682	D	0.000000	T	0.63319	0.2501	L	0.51422	1.61	0.80722	D	1	P	0.51933	0.949	P	0.49683	0.619	T	0.67277	-0.5711	10	0.87932	D	0	-12.4589	18.1473	0.89662	0.0:1.0:0.0:0.0	.	1544	O60292	SI1L3_HUMAN	L	1544	ENSP00000222345:S1544L	ENSP00000222345:S1544L	S	+	2	0	SIPA1L3	43376051	1.000000	0.71417	0.980000	0.43619	0.068000	0.16541	6.506000	0.73712	2.664000	0.90586	0.561000	0.74099	TCG		0.697	SIPA1L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000156294.2	XM_032278		4	12	0	0	0	1	0	4	12					T	38684211	C	T	38684211	3	4	360	1	0	0	0	0	1	0	0	0	14331	893	31	2	4693	2	SIPA1L3	19	38684211	Missense_Mutation	SNP	C	TCGA-QU-A6IM-01A-11D-A31L-08	16108482	38684211	20444772	71	18040											
RPS11	6205	broad.mit.edu	37	chr19	50000530	50000530	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gggagaaactggcaaggagaAgctcccgcggtactacaaga	14	4	14	9	2	0	3	0	0	0	3	1	5	1	3	1	4	4	3	1	4	6	2			TCGA-QU-A6IM-01A-11D-A31L-08	TCGA-QU-A6IM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c46bdf0-625f-4d00-ae75-b9e83d2fe3ea	84da4992-73f8-4179-bc14-13735496a930	g.chr19:50000530A>C	ENST00000270625.2	+	2	178	c.95A>C	c.(94-96)aAg>aCg	p.K32T	RPS11_ENST00000599561.1_Missense_Mutation_p.K32T|RPS11_ENST00000594493.1_5'UTR|RPS11_ENST00000596873.1_Missense_Mutation_p.K32T|SNORD35B_ENST00000363660.1_RNA	NM_001015.4	NP_001006.1	P62280	RS11_HUMAN	ribosomal protein S11	32					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|cytosolic small ribosomal subunit (GO:0022627)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|rRNA binding (GO:0019843)|structural constituent of ribosome (GO:0003735)			kidney(1)|large_intestine(1)|lung(3)|skin(1)|urinary_tract(1)	7		all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00206)|GBM - Glioblastoma multiforme(486;0.0245)		GGCAAGGAGAAGCTCCCGCGG	0.532																																						ENST00000270625.2																			0				kidney(1)|large_intestine(1)|lung(3)|skin(1)|urinary_tract(1)	7						c.(94-96)aAg>aCg		ribosomal protein S11							61	63	62					19																	50000530		2203	4300	6503	SO:0001583	missense	6205				endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit	protein binding|rRNA binding|structural constituent of ribosome	g.chr19:50000530A>C	AB007152	CCDS12769.1	19q13.3	2011-08-03			ENSG00000142534	ENSG00000142534		"S ribosomal proteins"	10384	protein-coding gene	gene with protein product	"40S ribosomal protein S11"	180471				1577483, 9582194	Standard	NM_001015		Approved	S11	uc002pob.2	P62280		ENST00000270625.2:c.95A>C	19.37:g.50000530A>C	ENSP00000270625:p.Lys32Thr					RPS11_ENST00000599561.1_Missense_Mutation_p.K32T|RPS11_ENST00000596873.1_Missense_Mutation_p.K32T|RPS11_ENST00000594493.1_5'UTR	p.K32T	NM_001015.4	NP_001006.1	P62280	RS11_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00206)|GBM - Glioblastoma multiforme(486;0.0245)	2	178	+		all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392)	32					B2R4F5|P04643|Q498Y6|Q6IRY0	Missense_Mutation	SNP	ENST00000270625.2	37	c.95A>C	CCDS12769.1	.	.	.	.	.	.	.	.	.	.	A	20.4	3.981631	0.74474	.	.	ENSG00000142534	ENST00000270625	.	.	.	5.9	5.9	0.94986	.	0.000000	0.85682	D	0.000000	T	0.62600	0.2441	M	0.71920	2.185	0.80722	D	1	B	0.21071	0.051	B	0.24848	0.056	T	0.58758	-0.7580	8	.	.	.	-22.9283	14.2765	0.66184	1.0:0.0:0.0:0.0	.	32	P62280	RS11_HUMAN	T	32	.	.	K	+	2	0	RPS11	54692342	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.029000	0.93718	2.254000	0.74563	0.460000	0.39030	AAG		0.532	RPS11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465288.1	NM_001015		16	63	0	0	0	1	0	16	63					C	50000530	A	C	50000530	3	2	360	1	0	0	0	0	1	0	0	0	13621	72	3	5	101	5	RPS11	19	50000530	Missense_Mutation	SNP	A	TCGA-QU-A6IM-01A-11D-A31L-08	11316319	50000530	9128453	72	18041											
ZNF470	388566	broad.mit.edu	37	chr19	57089490	57089490	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttcatactggtgagaagcctTacgaatgtattgaatgtggg	11	13	12	5	1	1	2	1	2	0	1	1	4	1	2	1	2	3	1	1	2	6	5			TCGA-QU-A6IM-01A-11D-A31L-08	TCGA-QU-A6IM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c46bdf0-625f-4d00-ae75-b9e83d2fe3ea	84da4992-73f8-4179-bc14-13735496a930	g.chr19:57089490T>G	ENST00000330619.8	+	6	2379	c.1693T>G	c.(1693-1695)Tac>Gac	p.Y565D	ZNF470_ENST00000601902.1_Intron|ZNF470_ENST00000391709.3_Missense_Mutation_p.Y565D	NM_001001668.3	NP_001001668.3	Q6ECI4	ZN470_HUMAN	zinc finger protein 470	565					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(7)|large_intestine(12)|lung(11)|ovary(1)|pancreas(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	41		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0294)		TGAGAAGCCTTACGAATGTAT	0.443																																						ENST00000330619.8																			0				endometrium(7)|large_intestine(12)|lung(11)|ovary(1)|pancreas(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	41						c.(1693-1695)Tac>Gac		zinc finger protein 470							100	88	92					19																	57089490		2203	4300	6503	SO:0001583	missense	388566				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57089490T>G	AK129686	CCDS33122.1	19q13.43	2013-01-08				ENSG00000197016		"Zinc fingers, C2H2-type", "-"	22220	protein-coding gene	gene with protein product						15302581	Standard	NM_001001668		Approved	CZF-1, FLJ26175	uc002qnl.4	Q6ECI4		ENST00000330619.8:c.1693T>G	19.37:g.57089490T>G	ENSP00000333223:p.Tyr565Asp					ZNF470_ENST00000391709.3_Missense_Mutation_p.Y565D|ZNF470_ENST00000601902.1_Intron	p.Y565D	NM_001001668.3	NP_001001668.3	Q6ECI4	ZN470_HUMAN		GBM - Glioblastoma multiforme(193;0.0294)	6	2379	+		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)	565					A8MTW0|B9EGU1|Q6ZPA1|Q9Y2N9	Missense_Mutation	SNP	ENST00000330619.8	37	c.1693T>G	CCDS33122.1	.	.	.	.	.	.	.	.	.	.	T	15.73	2.921065	0.52653	.	.	ENSG00000197016	ENST00000391709;ENST00000330619	T;T	0.25579	1.79;1.79	4.37	3.32	0.38043	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.60418	0.2267	H	0.97131	3.945	0.09310	N	0.999998	D	0.89917	1.0	D	0.78314	0.991	T	0.54330	-0.8310	9	0.87932	D	0	.	6.9542	0.24562	0.0:0.1871:0.0:0.8129	.	565	Q6ECI4	ZN470_HUMAN	D	565	ENSP00000375590:Y565D;ENSP00000333223:Y565D	ENSP00000333223:Y565D	Y	+	1	0	ZNF470	61781302	0.544000	0.26441	0.999000	0.59377	0.982000	0.71751	3.718000	0.54919	1.843000	0.53566	0.528000	0.53228	TAC		0.443	ZNF470-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459707.2	NM_001001668		17	53	0	0	0	1	0	17	53					G	57089490	T	G	57089490	3	3	360	1	0	0	0	0	1	0	0	0	17926	1754	61	5	1707	5	ZNF470	19	57089490	Missense_Mutation	SNP	T	TCGA-QU-A6IM-01A-11D-A31L-08	7088960	57089490	2039493	73	18042											
WFDC6	57119	broad.mit.edu	37	chr20	44167963	44167963	+	IGR	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tcccaatacttactgccaagGatgccttcagcgtgcccagg	9	9	9	14	1	1	0	1	0	0	0	2	1	2	1	4	2	6	0	4	2	4	3			TCGA-QU-A6IM-01A-11D-A31L-08	TCGA-QU-A6IM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c46bdf0-625f-4d00-ae75-b9e83d2fe3ea	84da4992-73f8-4179-bc14-13735496a930	g.chr20:44167963G>A	ENST00000354280.4	-	0	1987				WFDC6_ENST00000600168.1_Silent_p.I28I|EPPIN-WFDC6_ENST00000504988.1_Intron|WFDC6_ENST00000372670.3_Silent_p.I28I|EPPIN_ENST00000555685.1_Intron	NM_020398.3	NP_065131.1	O95925	EPPI_HUMAN	epididymal peptidase inhibitor						defense response to bacterium (GO:0042742)|negative regulation of peptidase activity (GO:0010466)	extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)										TACTGCCAAGGATGCCTTCAG	0.478																																						ENST00000600168.1																			0				breast(1)|kidney(1)|large_intestine(2)|lung(2)	6						c.(82-84)atC>atT		WAP four-disulfide core domain 6							107	95	99					20																	44167963		2203	4300	6503	SO:0001628	intergenic_variant	140870							g.chr20:44167963G>A	AF286370	CCDS13359.1	20q13.12	2014-01-21	2012-08-22	2012-08-22	ENSG00000101448	ENSG00000101448		"WAP four-disulfide core domain containing"	15932	protein-coding gene	gene with protein product	"epididymal protease inhibitor", "cancer/testis antigen 72"	609031	"serine protease inhibitor-like, with Kunitz and WAP domains 1 (eppin)", "serine peptidase inhibitor-like, with Kunitz and WAP domains 1 (eppin)"	SPINLW1		11404006, 12206714	Standard	NM_020398		Approved	EPPIN1, EPPIN2, EPPIN3, dJ461P17.2, WAP7, WFDC7, CT71		O95925	OTTHUMG00000032588		20.37:g.44167963G>A						WFDC6_ENST00000372670.3_Silent_p.I28I|EPPIN_ENST00000555685.1_Intron|EPPIN-WFDC6_ENST00000504988.1_Intron	p.I28I							1	171	-		Myeloproliferative disorder(115;0.0122)						A6PVD6|Q86TP9|Q96SD7|Q9HD30	Silent	SNP	ENST00000354280.4	37	c.84C>T	CCDS13359.1																																																																																				0.478	EPPIN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000079467.4			6	63	0	0	0	1	0	6	63					A	44167963	G	A	44167963	1	1	360	0	1	0	0	0	0	0	0	0	17352	1164	41	3		3	WFDC6	20	44167963	IGR	SNP	G	TCGA-QU-A6IM-01A-11D-A31L-08		44167963	18857557	74	18043											
CXADR	1525	broad.mit.edu	37	chr21	18924261	18924261	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcaaataagaagattcatctGgtagttcttggtaagttatt	13	15	9	4	0	3	2	1	0	2	2	3	2	3	2	0	2	0	5	0	2	6	8			TCGA-QU-A6IM-01A-11D-A31L-08	TCGA-QU-A6IM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c46bdf0-625f-4d00-ae75-b9e83d2fe3ea	84da4992-73f8-4179-bc14-13735496a930	g.chr21:18924261G>T	ENST00000284878.7	+	3	1153	c.405G>T	c.(403-405)ctG>ctT	p.L135L	CXADR_ENST00000400165.1_Silent_p.L135L|CXADR_ENST00000356275.6_Intron|CXADR_ENST00000400169.1_Silent_p.L135L|CXADR_ENST00000400166.1_Silent_p.L135L|CXADR_ENST00000306618.10_Silent_p.L135L	NM_001338.4	NP_001329.1	P78310	CXAR_HUMAN	coxsackie virus and adenovirus receptor	135					actin cytoskeleton reorganization (GO:0031532)|AV node cell to bundle of His cell communication (GO:0086067)|blood coagulation (GO:0007596)|cardiac muscle fiber development (GO:0048739)|cell-cell junction organization (GO:0045216)|defense response to virus (GO:0051607)|epithelial structure maintenance (GO:0010669)|gamma-delta T cell activation (GO:0046629)|germ cell migration (GO:0008354)|heart development (GO:0007507)|heterophilic cell-cell adhesion (GO:0007157)|homotypic cell-cell adhesion (GO:0034109)|leukocyte migration (GO:0050900)|mitochondrion organization (GO:0007005)|neutrophil chemotaxis (GO:0030593)|regulation of immune response (GO:0050776)|transepithelial transport (GO:0070633)|viral process (GO:0016032)	acrosomal vesicle (GO:0001669)|adherens junction (GO:0005912)|apicolateral plasma membrane (GO:0016327)|basolateral plasma membrane (GO:0016323)|cell body (GO:0044297)|cell junction (GO:0030054)|cell-cell junction (GO:0005911)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|filopodium (GO:0030175)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|membrane raft (GO:0045121)|neuromuscular junction (GO:0031594)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|tight junction (GO:0005923)	beta-catenin binding (GO:0008013)|cell adhesion molecule binding (GO:0050839)|connexin binding (GO:0071253)|identical protein binding (GO:0042802)|integrin binding (GO:0005178)|PDZ domain binding (GO:0030165)|receptor binding (GO:0005102)|virus receptor activity (GO:0001618)			endometrium(2)|large_intestine(5)|lung(1)|ovary(1)|prostate(2)	11				Epithelial(23;0.000206)|all cancers(11;0.000302)|OV - Ovarian serous cystadenocarcinoma(11;0.0194)|Lung(58;0.0233)|COAD - Colon adenocarcinoma(22;0.0389)|Colorectal(24;0.0483)|LUSC - Lung squamous cell carcinoma(23;0.0782)		AGATTCATCTGGTAGTTCTTG	0.333																																						ENST00000284878.7																			0				endometrium(2)|large_intestine(5)|lung(1)|ovary(1)|prostate(2)	11						c.(403-405)ctG>ctT		coxsackie virus and adenovirus receptor							104	106	106					21																	18924261		2203	4300	6503	SO:0001819	synonymous_variant	1525				blood coagulation|cell adhesion|interspecies interaction between organisms|leukocyte migration|regulation of immune response	adherens junction|basolateral plasma membrane|extracellular region|integral to plasma membrane|nucleus|tight junction	receptor activity	g.chr21:18924261G>T	Y07593	CCDS33519.1, CCDS56204.1, CCDS56205.1, CCDS56206.1, CCDS56207.1	21q21.1	2013-01-29			ENSG00000154639	ENSG00000154639		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	2559	protein-coding gene	gene with protein product		602621				9036860, 9096397	Standard	NM_001338		Approved	CAR	uc002yki.3	P78310	OTTHUMG00000074508	ENST00000284878.7:c.405G>T	21.37:g.18924261G>T						CXADR_ENST00000306618.10_Silent_p.L135L|CXADR_ENST00000400165.1_Silent_p.L135L|CXADR_ENST00000356275.6_Intron|CXADR_ENST00000400166.1_Silent_p.L135L|CXADR_ENST00000400169.1_Silent_p.L135L	p.L135L	NM_001338.4	NP_001329.1	P78310	CXAR_HUMAN		Epithelial(23;0.000206)|all cancers(11;0.000302)|OV - Ovarian serous cystadenocarcinoma(11;0.0194)|Lung(58;0.0233)|COAD - Colon adenocarcinoma(22;0.0389)|Colorectal(24;0.0483)|LUSC - Lung squamous cell carcinoma(23;0.0782)	3	1153	+			135					B2R8V8|B7WPI3|D3YHP0|O00694|Q8WWT6|Q8WWT7|Q8WWT8|Q9UKV4	Silent	SNP	ENST00000284878.7	37	c.405G>T	CCDS33519.1																																																																																				0.333	CXADR-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000158209.1			3	40	1	0	0.115264	1	0.116312	3	40					T	18924261	G	T	18924261	2	4	360	1	0	0	0	0	0	0	0	1	4076	1335	47	5		5	CXADR	21	18924261	Silent	SNP	G	TCGA-QU-A6IM-01A-11D-A31L-08		18924261	29205634	75	18044											
FAM165B	54065	broad.mit.edu	37	chr21	35757886	35757886	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agaaaaaggttggaggcaaaAcaacaaaaactggaggctga	20	4	12	5	0	0	2	0	1	0	1	0	4	0	4	0	5	3	3	0	5	7	1			TCGA-QU-A6IM-01A-11D-A31L-08	TCGA-QU-A6IM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c46bdf0-625f-4d00-ae75-b9e83d2fe3ea	84da4992-73f8-4179-bc14-13735496a930	g.chr21:35757886A>G	ENST00000399295.2	+	3	493	c.123A>G	c.(121-123)aaA>aaG	p.K41K	SMIM11_ENST00000481710.1_3'UTR|SMIM11_ENST00000399299.1_Intron|SMIM11_ENST00000399292.3_Silent_p.K41K			P58511	SIM11_HUMAN	small integral membrane protein 11	41						integral component of membrane (GO:0016021)											TGGAGGCAAAACAACAAAAAC	0.443																																						ENST00000399295.2																			0											c.(121-123)aaA>aaG		small integral membrane protein 11							61	57	59					21																	35757886		2203	4300	6503	SO:0001819	synonymous_variant	54065							g.chr21:35757886A>G	BC015596	CCDS33550.1	21q22.12	2012-12-03	2012-12-03	2012-12-03	ENSG00000205670	ENSG00000205670			1293	protein-coding gene	gene with protein product			"chromosome 21 open reading frame 51", "family with sequence similarity 165, member B"	C21orf51, FAM165B			Standard	NM_058182		Approved		uc002ytu.4	P58511	OTTHUMG00000086193	ENST00000399295.2:c.123A>G	21.37:g.35757886A>G						SMIM11_ENST00000399292.3_Silent_p.K41K|SMIM11_ENST00000481710.1_3'UTR|SMIM11_ENST00000399299.1_Intron	p.K41K							3	493	+									Silent	SNP	ENST00000399295.2	37	c.123A>G	CCDS33550.1																																																																																				0.443	SMIM11-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194078.1	NM_058182		11	46	0	0	0	1	0	11	46					G	35757886	A	G	35757886	2	3	360	1	0	0	0	0	0	0	0	1	5480	40	2	4		4	FAM165B	21	35757886	Silent	SNP	A	TCGA-QU-A6IM-01A-11D-A31L-08	16833625	35757886	12372009	76	18045											
XKR3	150165	broad.mit.edu	37	chr22	17288741	17288741	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atccaaaattgcccccacaaTaataaagctgatggtaaatg	17	9	6	9	0	0	1	0	1	0	0	1	1	1	1	3	1	2	2	3	1	8	4			TCGA-QU-A6IM-01A-11D-A31L-08	TCGA-QU-A6IM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c46bdf0-625f-4d00-ae75-b9e83d2fe3ea	84da4992-73f8-4179-bc14-13735496a930	g.chr22:17288741T>C	ENST00000331428.5	-	2	325	c.223A>G	c.(223-225)Att>Gtt	p.I75V		NM_175878.3	NP_787074.2	Q5GH77	XKR3_HUMAN	XK, Kell blood group complex subunit-related family, member 3	75						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(6)|ovary(1)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				GCCCCCACAATAATAAAGCTG	0.353																																						ENST00000331428.5																			0				central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(6)|ovary(1)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(223-225)Att>Gtt		XK, Kell blood group complex subunit-related family, member 3							88	81	83					22																	17288741		1827	4078	5905	SO:0001583	missense	150165					integral to membrane|plasma membrane		g.chr22:17288741T>C	AY989815	CCDS42975.1	22q11.1	2007-01-16	2006-01-12		ENSG00000172967	ENSG00000172967			28778	protein-coding gene	gene with protein product		611674	"X Kell blood group precursor-related family, member 3"			16431037	Standard	NM_175878		Approved	MGC57211, XTES	uc002zlv.3	Q5GH77	OTTHUMG00000143726	ENST00000331428.5:c.223A>G	22.37:g.17288741T>C	ENSP00000331704:p.Ile75Val						p.I75V	NM_175878.3	NP_787074.2	Q5GH77	XKR3_HUMAN			2	325	-	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)	75					B2RPN1|Q52PG8|Q8N7E1	Missense_Mutation	SNP	ENST00000331428.5	37	c.223A>G	CCDS42975.1	.	.	.	.	.	.	.	.	.	.	.	10.33	1.321578	0.23994	.	.	ENSG00000172967	ENST00000331428	T	0.61980	0.06	0.539	0.539	0.17156	.	0.106566	0.34676	U	0.003778	T	0.31979	0.0814	N	0.08118	0	0.09310	N	1	B	0.27910	0.193	B	0.24974	0.057	T	0.09487	-1.0672	10	0.38643	T	0.18	.	2.6787	0.05087	0.4304:0.0:1.0E-4:0.5696	.	75	Q5GH77	XKR3_HUMAN	V	75	ENSP00000331704:I75V	ENSP00000331704:I75V	I	-	1	0	XKR3	15668741	0.390000	0.25213	0.050000	0.19076	0.166000	0.22503	-0.160000	0.10041	0.485000	0.27652	0.246000	0.17985	ATT		0.353	XKR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000289789.1	NM_175878		28	48	0	0	0	1	0	28	48					C	17288741	T	C	17288741	3	2	360	1	0	0	0	0	1	0	0	0	17429	1406	49	4	1168	4	XKR3	22	17288741	Missense_Mutation	SNP	T	TCGA-QU-A6IM-01A-11D-A31L-08		17288741	34015825	77	18046											
MYO18B	84700	broad.mit.edu	37	chr22	26286730	26286730	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttccccatctcagattgctgActtgacctctgaccttgccg	6	13	7	15	1	2	4	1	3	2	1	4	4	3	4	5	0	2	1	5	0	0	4	rs188687136		TCGA-QU-A6IM-01A-11D-A31L-08	TCGA-QU-A6IM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c46bdf0-625f-4d00-ae75-b9e83d2fe3ea	84da4992-73f8-4179-bc14-13735496a930	g.chr22:26286730A>T	ENST00000407587.2	+	26	4494	c.4325A>T	c.(4324-4326)gAc>gTc	p.D1442V	CTA-125H2.2_ENST00000609157.1_RNA|CTA-125H2.2_ENST00000600211.1_RNA|CTA-125H2.2_ENST00000608507.1_RNA|CTA-125H2.2_ENST00000609823.1_RNA|CTA-125H2.2_ENST00000607895.1_RNA|CTA-125H2.2_ENST00000597284.1_RNA|CTA-125H2.2_ENST00000609820.1_RNA|CTA-125H2.2_ENST00000594542.1_RNA|CTA-125H2.2_ENST00000599080.1_RNA|MYO18B_ENST00000335473.7_Missense_Mutation_p.D1441V|CTA-125H2.2_ENST00000594585.1_RNA|CTA-125H2.2_ENST00000597548.1_RNA|CTA-125H2.2_ENST00000596813.1_RNA|CTA-125H2.2_ENST00000609570.1_RNA|CTA-125H2.2_ENST00000609809.1_RNA|CTA-125H2.2_ENST00000593715.1_RNA|CTA-125H2.2_ENST00000608257.1_RNA|CTA-125H2.2_ENST00000595102.1_RNA|CTA-125H2.2_ENST00000597614.2_RNA|MYO18B_ENST00000536101.1_Missense_Mutation_p.D1441V|CTA-125H2.2_ENST00000453457.3_RNA|CTA-125H2.2_ENST00000608921.1_RNA|CTA-125H2.2_ENST00000608115.1_RNA|CTA-125H2.2_ENST00000609275.1_RNA|CTA-125H2.2_ENST00000609889.1_RNA			Q8IUG5	MY18B_HUMAN	myosin XVIIIB	1441	Tail.					cytoplasm (GO:0005737)|nucleus (GO:0005634)|unconventional myosin complex (GO:0016461)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						CAGATTGCTGACTTGACCTCT	0.582																																						ENST00000335473.7																			0				NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						c.(4321-4323)gAc>gTc		myosin XVIIIB							67	70	69					22																	26286730		2147	4247	6394	SO:0001583	missense	84700					nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity	g.chr22:26286730A>T	AJ310931	CCDS54507.1	22q12.1	2011-09-27			ENSG00000133454	ENSG00000133454		"Myosins / Myosin superfamily : Class XVIII"	18150	protein-coding gene	gene with protein product		607295				12209013, 12547197	Standard	NM_032608		Approved	BK125H2.1	uc003abz.1	Q8IUG5	OTTHUMG00000151129	ENST00000407587.2:c.4325A>T	22.37:g.26286730A>T	ENSP00000386096:p.Asp1442Val					CTA-125H2.2_ENST00000600211.1_RNA|MYO18B_ENST00000536101.1_Missense_Mutation_p.D1441V|CTA-125H2.2_ENST00000453457.2_RNA|MYO18B_ENST00000407587.2_Missense_Mutation_p.D1442V	p.D1441V	NM_032608.5	NP_115997.5	Q8IUG5	MY18B_HUMAN			26	4572	+			1441			Tail.		B2RWP3|F5GYU7|Q8NDI8|Q8TE65|Q8WWS0|Q96KH2|Q96KR8|Q96KR9	Missense_Mutation	SNP	ENST00000407587.2	37	c.4322A>T		.	.	.	.	.	.	.	.	.	.	A	16.34	3.095040	0.56075	.	.	ENSG00000133454	ENST00000536101;ENST00000335473;ENST00000407587	D;D;D	0.87966	-2.3;-2.3;-2.32	5.64	5.64	0.86602	.	0.193972	0.44285	D	0.000479	D	0.90352	0.6981	M	0.69248	2.105	0.58432	D	0.999991	P;P;D;P	0.55172	0.892;0.895;0.97;0.936	P;P;P;P	0.54664	0.663;0.462;0.758;0.663	D	0.91386	0.5131	10	0.87932	D	0	.	13.8147	0.63283	1.0:0.0:0.0:0.0	.	954;1441;1442;1441	Q8IUG5-2;Q8IUG5;F5GXR6;F5GYU7	.;MY18B_HUMAN;.;.	V	1441;1441;1442	ENSP00000441229:D1441V;ENSP00000334563:D1441V;ENSP00000386096:D1442V	ENSP00000334563:D1441V	D	+	2	0	MYO18B	24616730	0.997000	0.39634	0.990000	0.47175	0.213000	0.24496	3.468000	0.53086	2.151000	0.67156	0.477000	0.44152	GAC		0.582	MYO18B-006	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000400691.1	NM_032608		6	20	0	0	0	1	0	6	20					T	26286730	A	T	26286730	3	4	360	1	0	0	0	0	1	0	0	0	10066	275	10	5	4420	5	MYO18B	22	26286730	Missense_Mutation	SNP	A	TCGA-QU-A6IM-01A-11D-A31L-08	8997989	26286730	25017836	78	18047											
SLC25A17	10478	broad.mit.edu	37	chr22	41169988	41169988	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atattccgaagacttcccaaTgttctgttttctgggtttag	8	17	8	8	1	2	1	0	0	2	1	4	2	4	1	2	1	0	3	2	1	4	8			TCGA-QU-A6IM-01A-11D-A31L-08	TCGA-QU-A6IM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c46bdf0-625f-4d00-ae75-b9e83d2fe3ea	84da4992-73f8-4179-bc14-13735496a930	g.chr22:41169988T>C	ENST00000435456.2	-	8	862	c.729A>G	c.(727-729)acA>acG	p.T243T	SLC25A17_ENST00000491545.1_5'UTR|SLC25A17_ENST00000402844.3_Silent_p.T161T|SLC25A17_ENST00000544408.1_Silent_p.T206T|SLC25A17_ENST00000542412.1_Silent_p.T170T	NM_006358.2	NP_006349.1	O43808	PM34_HUMAN	solute carrier family 25 (mitochondrial carrier; peroxisomal membrane protein, 34kDa), member 17	243					ADP transport (GO:0015866)|AMP transport (GO:0080121)|ATP transport (GO:0015867)|cellular lipid metabolic process (GO:0044255)|coenzyme A transmembrane transport (GO:0035349)|FAD transmembrane transport (GO:0035350)|fatty acid alpha-oxidation (GO:0001561)|fatty acid beta-oxidation (GO:0006635)|fatty acid transport (GO:0015908)|NAD transport (GO:0043132)|nucleotide transmembrane transport (GO:1901679)|small molecule metabolic process (GO:0044281)	integral component of peroxisomal membrane (GO:0005779)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	ADP transmembrane transporter activity (GO:0015217)|AMP transmembrane transporter activity (GO:0080122)|ATP transmembrane transporter activity (GO:0005347)|chaperone binding (GO:0051087)|coenzyme A transmembrane transporter activity (GO:0015228)|FAD transmembrane transporter activity (GO:0015230)|FMN transmembrane transporter activity (GO:0044610)|NAD transporter activity (GO:0051724)			central_nervous_system(1)|large_intestine(4)|lung(2)|skin(1)	8						GACTTCCCAATGTTCTGTTTT	0.408																																						ENST00000402844.3																			0				central_nervous_system(1)|large_intestine(4)|lung(2)|skin(1)	8						c.(481-483)acA>acG		solute carrier family 25 (mitochondrial carrier; peroxisomal membrane protein, 34kDa), member 17							121	111	115					22																	41169988		2203	4300	6503	SO:0001819	synonymous_variant	10478				fatty acid alpha-oxidation	integral to plasma membrane|mitochondrial inner membrane|peroxisomal membrane	adenine nucleotide transmembrane transporter activity|protein binding	g.chr22:41169988T>C	Y12860	CCDS14005.1, CCDS74868.1	22q13.2	2013-05-22	2002-08-29		ENSG00000100372	ENSG00000100372		"Solute carriers"	10987	protein-coding gene	gene with protein product	"peroxisomal membrane protein (34kD)"	606795	"solute carrier family 25 (mitochondrial carrier; peroxisomal membrane protein, 34kD), member 17"			9874197	Standard	NM_006358		Approved	PMP34	uc003azc.3	O43808	OTTHUMG00000151139	ENST00000435456.2:c.729A>G	22.37:g.41169988T>C						SLC25A17_ENST00000435456.2_Silent_p.T243T|SLC25A17_ENST00000491545.1_5'UTR|SLC25A17_ENST00000542412.1_Silent_p.T170T|SLC25A17_ENST00000544408.1_Silent_p.T206T	p.T161T			O43808	PM34_HUMAN			4	1463	-			243					A8KA59|Q5TFL0|Q9UGW8|Q9UGY7	Silent	SNP	ENST00000435456.2	37	c.483A>G	CCDS14005.1																																																																																				0.408	SLC25A17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321487.1	NM_006358		9	42	0	0	0	1	0	9	42					C	41169988	T	C	41169988	2	2	360	1	0	0	0	0	0	0	0	1	14479	1451	51	4		4	SLC25A17	22	41169988	Silent	SNP	T	TCGA-QU-A6IM-01A-11D-A31L-08	14883258	41169988	10134578	79	18048											
IL1RAPL1	11141	broad.mit.edu	37	chrX	28807502	28807502	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttgattctcttatacgctacTtttactcagagtttgaaggt	9	18	7	7	1	2	3	1	2	1	1	3	3	2	3	0	1	3	2	0	1	5	8			TCGA-QU-A6IM-01A-11D-A31L-08	TCGA-QU-A6IM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c46bdf0-625f-4d00-ae75-b9e83d2fe3ea	84da4992-73f8-4179-bc14-13735496a930	g.chrX:28807502T>A	ENST00000378993.1	+	2	715	c.42T>A	c.(40-42)acT>acA	p.T14T	IL1RAPL1_ENST00000302196.4_Silent_p.T14T	NM_014271.3	NP_055086.1	Q9NZN1	IRPL1_HUMAN	interleukin 1 receptor accessory protein-like 1	14					calcium ion transmembrane transport (GO:0070588)|heterophilic cell-cell adhesion (GO:0007157)|negative regulation of exocytosis (GO:0045920)|neuron differentiation (GO:0030182)|positive regulation of dendrite morphogenesis (GO:0050775)|presynaptic membrane assembly (GO:0097105)|regulation of neuron projection development (GO:0010975)|signal transduction (GO:0007165)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	receptor binding (GO:0005102)|voltage-gated calcium channel activity (GO:0005245)			biliary_tract(1)|breast(1)|endometrium(5)|large_intestine(9)|lung(38)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62						TATACGCTACTTTTACTCAGA	0.368																																						ENST00000378993.1																			0				biliary_tract(1)|breast(1)|endometrium(5)|large_intestine(9)|lung(38)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62						c.(40-42)acT>acA		interleukin 1 receptor accessory protein-like 1							93	82	86					X																	28807502		2202	4300	6502	SO:0001819	synonymous_variant	11141				innate immune response|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of exocytosis|regulation of neuron projection development	cytoplasm|integral to membrane|plasma membrane	protein binding|transmembrane receptor activity	g.chrX:28807502T>A	AJ243874	CCDS14218.1	Xp22.1-p21.3	2013-01-29	2004-02-13		ENSG00000169306	ENSG00000169306		"Interleukins and interleukin receptors", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5996	protein-coding gene	gene with protein product		300206	"mental retardation, X-linked 34", "mental retardation, X-linked 21", "mental retardation, X-linked 10"	IL1RAPL, MRX34, MRX21, MRX10		10471494, 10757639	Standard	NM_014271		Approved	OPHN4, TIGIRR-2, IL1R8	uc004dby.2	Q9NZN1	OTTHUMG00000021317	ENST00000378993.1:c.42T>A	X.37:g.28807502T>A						IL1RAPL1_ENST00000302196.4_Silent_p.T14T	p.T14T	NM_014271.3	NP_055086.1	Q9NZN1	IRPL1_HUMAN			2	715	+			14					A0AVG4|Q9UJ53	Silent	SNP	ENST00000378993.1	37	c.42T>A	CCDS14218.1																																																																																				0.368	IL1RAPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056155.1	NM_014271		3	34	0	0	0	1	0	3	34					A	28807502	T	A	28807502	2	1	360	1	0	0	0	0	0	0	0	1	7661	1596	56	5		5	IL1RAPL1	23	28807502	Silent	SNP	T	TCGA-QU-A6IM-01A-11D-A31L-08		28807502	126463058	80	18049											
FAM47A	158724	broad.mit.edu	37	chrX	34149502	34149502	+	Nonsense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggccgaggacagaatttcccAcaagggtatttaccaggctc	11	8	11	11	1	0	1	0	0	0	1	2	3	1	2	3	4	1	2	3	4	4	4			TCGA-QU-A6IM-01A-11D-A31L-08	TCGA-QU-A6IM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c46bdf0-625f-4d00-ae75-b9e83d2fe3ea	84da4992-73f8-4179-bc14-13735496a930	g.chrX:34149502A>T	ENST00000346193.3	-	1	945	c.894T>A	c.(892-894)tgT>tgA	p.C298*		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	298										NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						AGAATTTCCCACAAGGGTATT	0.592																																						ENST00000346193.3																			0				NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						c.(892-894)tgT>tgA		family with sequence similarity 47, member A							22	25	24					X																	34149502		2199	4295	6494	SO:0001587	stop_gained	158724							g.chrX:34149502A>T	BC026171	CCDS43926.1	Xp21.1	2004-08-09			ENSG00000185448	ENSG00000185448			29962	protein-coding gene	gene with protein product	"similar to hypothetical protein FLJ35782"					12477932	Standard	NM_203408		Approved	MGC27003	uc004ddg.3	Q5JRC9	OTTHUMG00000021339	ENST00000346193.3:c.894T>A	X.37:g.34149502A>T	ENSP00000345029:p.Cys298*						p.C298*	NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN			1	945	-			298					A8K8I9|Q8TAA0	Nonsense_Mutation	SNP	ENST00000346193.3	37	c.894T>A	CCDS43926.1	.	.	.	.	.	.	.	.	.	.	a	14.51	2.555640	0.45487	.	.	ENSG00000185448	ENST00000346193	.	.	.	0.13	0.13	0.14746	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.49607	T	0.09	.	.	.	.	.	.	.	.	X	298	.	ENSP00000345029:C298X	C	-	3	2	FAM47A	34059423	0.739000	0.28196	0.048000	0.18961	0.048000	0.14542	0.456000	0.21859	0.146000	0.19002	0.144000	0.16011	TGT		0.592	FAM47A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056205.1	NM_203408		16	5	0	0	0	1	0	16	5					T	34149502	A	T	34149502	4	4	360	1	0	0	0	0	0	1	0	0	5569	157	6	5	1485	5	FAM47A	23	34149502	Nonsense_Mutation	SNP	A	TCGA-QU-A6IM-01A-11D-A31L-08	5342000	34149502	121121058	81	18050											
HUWE1	10075	broad.mit.edu	37	chrX	53578098	53578098	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ccataggggtgtctgagctgGcattctgtgctagttctcgt	5	14	13	9	1	3	1	0	1	3	0	4	1	3	1	1	3	2	4	1	3	2	4			TCGA-QU-A6IM-01A-11D-A31L-08	TCGA-QU-A6IM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c46bdf0-625f-4d00-ae75-b9e83d2fe3ea	84da4992-73f8-4179-bc14-13735496a930	g.chrX:53578098G>A	ENST00000342160.3	-	64	9606	c.9149C>T	c.(9148-9150)gCc>gTc	p.A3050V	HUWE1_ENST00000262854.6_Missense_Mutation_p.A3050V			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	3050					base-excision repair (GO:0006284)|cell differentiation (GO:0030154)|histone ubiquitination (GO:0016574)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						GTCTGAGCTGGCATTCTGTGC	0.552																																						ENST00000342160.3																			0				NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						c.(9148-9150)gCc>gTc		HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase							115	100	105					X																	53578098		2203	4300	6503	SO:0001583	missense	10075				base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity	g.chrX:53578098G>A	AB071605	CCDS35301.1	Xp11.22	2014-06-09	2012-02-23		ENSG00000086758	ENSG00000086758			30892	protein-coding gene	gene with protein product		300697	"HECT, UBA and WWE domain containing 1"			9205841, 10998601	Standard	NM_031407		Approved	Ib772, KIAA0312, UREB1	uc004dsp.4	Q7Z6Z7	OTTHUMG00000021617	ENST00000342160.3:c.9149C>T	X.37:g.53578098G>A	ENSP00000340648:p.Ala3050Val					HUWE1_ENST00000262854.6_Missense_Mutation_p.A3050V	p.A3050V			Q7Z6Z7	HUWE1_HUMAN			64	9606	-			3050					O15029|Q4G2Z2|Q5H961|Q6P4D0|Q8NG67|Q9BUI0|Q9HCJ4|Q9NSL6|Q9P0A9	Missense_Mutation	SNP	ENST00000342160.3	37	c.9149C>T	CCDS35301.1	.	.	.	.	.	.	.	.	.	.	G	17.27	3.346127	0.61073	.	.	ENSG00000086758	ENST00000342160;ENST00000262854	T;T	0.48836	0.8;0.8	5.88	5.88	0.94601	.	0.284900	0.34853	N	0.003637	T	0.44456	0.1294	L	0.42744	1.35	0.37919	D	0.931625	B;B	0.30634	0.166;0.288	B;B	0.29598	0.104;0.063	T	0.48019	-0.9071	10	0.54805	T	0.06	.	17.8502	0.88744	0.0:0.0:1.0:0.0	.	3050;3034	Q7Z6Z7;Q7Z6Z7-2	HUWE1_HUMAN;.	V	3050	ENSP00000340648:A3050V;ENSP00000262854:A3050V	ENSP00000262854:A3050V	A	-	2	0	HUWE1	53594823	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.957000	0.70323	2.489000	0.83994	0.600000	0.82982	GCC		0.552	HUWE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056766.1	XM_497119		3	42	0	0	0	1	0	3	42					A	53578098	G	A	53578098	3	1	360	1	0	0	0	0	1	0	0	0	7461	1203	42	3	4055	3	HUWE1	23	53578098	Missense_Mutation	SNP	G	TCGA-QU-A6IM-01A-11D-A31L-08	19428596	53578098	101692462	82	18051											
DDX3Y	8653	broad.mit.edu	37	chrY	15028970	15028970	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggcagtcgtggacgatctaaAaggtacacactgtttcgagc	11	9	12	9	3	1	0	0	0	1	0	3	3	1	1	0	3	2	3	0	3	3	3			TCGA-QU-A6IM-01A-11D-A31L-08	TCGA-QU-A6IM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c46bdf0-625f-4d00-ae75-b9e83d2fe3ea	84da4992-73f8-4179-bc14-13735496a930	g.chrY:15028970A>T	ENST00000336079.3	+	15	1867	c.1761A>T	c.(1759-1761)aaA>aaT	p.K587N	DDX3Y_ENST00000360160.4_Missense_Mutation_p.K587N	NM_001122665.1|NM_004660.3	NP_001116137.1|NP_004651.2	O15523	DDX3Y_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 3, Y-linked	587						cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|DNA binding (GO:0003677)|RNA binding (GO:0003723)			kidney(1)|liver(2)|lung(1)|upper_aerodigestive_tract(1)	5						GACGATCTAAAAGGTACACAC	0.393																																						ENST00000336079.3																			0				kidney(1)|liver(2)|lung(1)|upper_aerodigestive_tract(1)	5						c.(1759-1761)aaA>aaT		DEAD (Asp-Glu-Ala-Asp) box helicase 3, Y-linked							37	37	37					Y																	15028970		586	1896	2482	SO:0001583	missense	8653					cytoplasm|nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|RNA binding	g.chrY:15028970A>T	AF000984	CCDS14782.1	Yq11	2013-07-16	2013-07-16	2003-06-20	ENSG00000067048	ENSG00000067048		"DEAD-boxes"	2699	protein-coding gene	gene with protein product		400010	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide, Y chromosome", "DEAD (Asp-Glu-Ala-Asp) box polypeptide 3, Y-linked"	DBY		9381176	Standard	NM_004660		Approved		uc004fsv.2	O15523	OTTHUMG00000036324	ENST00000336079.3:c.1761A>T	Y.37:g.15028970A>T	ENSP00000336725:p.Lys587Asn					DDX3Y_ENST00000360160.4_Missense_Mutation_p.K587N	p.K587N	NM_001122665.1|NM_004660.3	NP_001116137.1|NP_004651.2	O15523	DDX3Y_HUMAN			15	1867	+			587					B4DK29|B4DXX7|Q8IYV7	Missense_Mutation	SNP	ENST00000336079.3	37	c.1761A>T	CCDS14782.1																																																																																				0.393	DDX3Y-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088407.1	NM_004660		3	3	0	0	0	1	0	3	3					T	15028970	A	T	15028970	3	4	360	1	0	0	0	0	1	0	0	0	4359	11	1	5	1819	5	DDX3Y	24	15028970	Missense_Mutation	SNP	A	TCGA-QU-A6IM-01A-11D-A31L-08		15028970	44344596	83	18052											
KIAA0467	23334	broad.mit.edu	37	chr1	43913222	43913222	+	Nonsense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacttatccctcagggacatTggagctccccacaccactca	10	9	6	16	0	2	0	2	0	0	0	4	2	4	2	4	2	2	1	4	2	2	3			TCGA-QU-A6IN-01A-11D-A31L-08	TCGA-QU-A6IN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8799b1d-3e1e-4d2a-ac5c-63509cd01c8b	9a41f5ef-4649-44de-883f-c7c0c4ee5de4	g.chr1:43913222T>A	ENST00000562955.1	+	66	9122	c.9122T>A	c.(9121-9123)tTg>tAg	p.L3041*	SZT2-AS1_ENST00000396885.2_RNA|SZT2_ENST00000372442.1_Nonsense_Mutation_p.L2199*	NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN	seizure threshold 2 homolog (mouse)	3098					central nervous system development (GO:0007417)|corpus callosum morphogenesis (GO:0021540)|embryo development (GO:0009790)|pigmentation (GO:0043473)|post-embryonic development (GO:0009791)|regulation of superoxide dismutase activity (GO:1901668)	extracellular vesicular exosome (GO:0070062)|peroxisome (GO:0005777)				NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						TCAGGGACATTGGAGCTCCCC	0.552																																						ENST00000562955.1																			0				NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						c.(9121-9123)tTg>tAg		seizure threshold 2 homolog (mouse)							106	104	104					1																	43913222		2203	4300	6503	SO:0001587	stop_gained	23334					peroxisome		g.chr1:43913222T>A	AB007936	CCDS30694.1, CCDS30694.2	1p34.2	2012-11-19	2011-06-10	2011-06-10	ENSG00000198198	ENSG00000198198			29040	protein-coding gene	gene with protein product	"seizure threshold 2 homolog A (mouse)", "seizure threshold 2 homolog B (mouse)"	615463	"chromosome 1 open reading frame 84", "KIAA0467"	C1orf84, KIAA0467		9455484	Standard	NM_015284		Approved	FLJ10387, SZT2B, RP11-506B15.1, FLJ34502, SZT2A	uc001cjk.3	Q5T011	OTTHUMG00000007423	ENST00000562955.1:c.9122T>A	1.37:g.43913222T>A	ENSP00000457168:p.Leu3041*					SZT2_ENST00000372442.1_Nonsense_Mutation_p.L2199*	p.L3041*	NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN			66	9122	+			3098					A0PJK5|A7E2X4|O75055|Q5JUY7|Q5T012|Q5XKC7|Q6ZNI8|Q6ZT24|Q7Z636|Q8NAY9|Q9H5H7|Q9UFQ8	Nonsense_Mutation	SNP	ENST00000562955.1	37	c.9122T>A	CCDS30694.2	.	.	.	.	.	.	.	.	.	.	T	49	16.052326	0.99853	.	.	ENSG00000198198	ENST00000372442	.	.	.	5.75	5.75	0.90469	.	0.393376	0.28504	N	0.015105	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	16.0519	0.80769	0.0:0.0:0.0:1.0	.	.	.	.	X	2199	.	ENSP00000361519:L2199X	L	+	2	0	SZT2	43685809	1.000000	0.71417	0.936000	0.37596	0.965000	0.64279	5.339000	0.65953	2.196000	0.70406	0.533000	0.62120	TTG		0.552	SZT2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019517.3	NM_015284		29	47	0	0	0	1	0	29	47					A	43913222	T	A	43913222	4	1	361	1	0	0	0	0	0	1	0	0	8178	1821	63	5	6794	5	KIAA0467	1	43913222	Nonsense_Mutation	SNP	T	TCGA-QU-A6IN-01A-11D-A31L-08		43913222	205337399	1	18053											
WLS	79971	broad.mit.edu	37	chr1	68614298	68614298	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagccaacggcaatgggtcCgacttgcttccaataccctg	9	8	11	13	2	0	0	0	0	0	0	2	2	2	1	4	3	4	2	4	3	4	3			TCGA-QU-A6IN-01A-11D-A31L-08	TCGA-QU-A6IN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8799b1d-3e1e-4d2a-ac5c-63509cd01c8b	9a41f5ef-4649-44de-883f-c7c0c4ee5de4	g.chr1:68614298C>T	ENST00000262348.4	-	7	1271	c.1018G>A	c.(1018-1020)Gga>Aga	p.G340R	GNG12-AS1_ENST00000420587.1_RNA|GNG12-AS1_ENST00000413628.1_RNA|WLS_ENST00000354777.2_Missense_Mutation_p.G338R|WLS_ENST00000370976.3_Missense_Mutation_p.G249R|WLS_ENST00000491811.1_5'UTR|WLS_ENST00000540432.1_Missense_Mutation_p.G340R	NM_024911.6	NP_079187.3	Q5T9L3	WLS_HUMAN	wntless Wnt ligand secretion mediator	340					anterior/posterior axis specification (GO:0009948)|mesoderm formation (GO:0001707)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|Wnt signaling pathway (GO:0016055)	cytoplasmic vesicle (GO:0031410)|early endosome membrane (GO:0031901)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	signal transducer activity (GO:0004871)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(4)|prostate(3)|urinary_tract(1)	20						GCAATGGGTCCGACTTGCTTC	0.512																																						ENST00000262348.4																			0				breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(4)|prostate(3)|urinary_tract(1)	20						c.(1018-1020)Gga>Aga		wntless Wnt ligand secretion mediator							161	108	126					1																	68614298		2203	4300	6503	SO:0001583	missense	79971				multicellular organismal development|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|Wnt receptor signaling pathway	cytoplasmic vesicle membrane|Golgi membrane|integral to membrane	signal transducer activity	g.chr1:68614298C>T	BX538320	CCDS642.1, CCDS30750.1, CCDS53331.1	1p31.2	2013-10-03	2013-10-03	2010-03-02	ENSG00000116729	ENSG00000116729			30238	protein-coding gene	gene with protein product	"wntless homolog"	611514	"chromosome 1 open reading frame 139", "G protein-coupled receptor 177", "wntless homolog (Drosophila)"	C1orf139, GPR177		12761501	Standard	NM_024911		Approved	FLJ23091, MRP, wls, EVI, mig-14	uc001dee.3	Q5T9L3	OTTHUMG00000009153	ENST00000262348.4:c.1018G>A	1.37:g.68614298C>T	ENSP00000262348:p.Gly340Arg					WLS_ENST00000540432.1_Missense_Mutation_p.G340R|WLS_ENST00000370976.3_Missense_Mutation_p.G249R|GNG12-AS1_ENST00000413628.1_RNA|WLS_ENST00000354777.2_Missense_Mutation_p.G338R|WLS_ENST00000491811.1_5'UTR|GNG12-AS1_ENST00000420587.1_RNA	p.G340R	NM_024911.6	NP_079187.3	Q5T9L3	WLS_HUMAN			7	1271	-			340					B2RNT2|Q5JRS7|Q7Z2Z9|Q8NC43	Missense_Mutation	SNP	ENST00000262348.4	37	c.1018G>A	CCDS642.1	.	.	.	.	.	.	.	.	.	.	C	26.7	4.765469	0.90020	.	.	ENSG00000116729	ENST00000540432;ENST00000354777;ENST00000262348;ENST00000370976	T;T;T;T	0.42513	0.97;0.97;0.97;0.97	6.08	6.08	0.98989	.	0.095103	0.64402	D	0.000001	T	0.57989	0.2091	L	0.56769	1.78	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.76071	0.975;0.979;0.987;0.975	T	0.54523	-0.8281	10	0.56958	D	0.05	-9.1404	20.6634	0.99662	0.0:1.0:0.0:0.0	.	340;249;340;338	F5H4K0;Q5JRS7;Q5T9L3;Q5T9L3-2	.;.;WLS_HUMAN;.	R	340;338;340;249	ENSP00000446112:G340R;ENSP00000346829:G338R;ENSP00000262348:G340R;ENSP00000360015:G249R	ENSP00000262348:G340R	G	-	1	0	WLS	68386886	1.000000	0.71417	0.991000	0.47740	0.763000	0.43281	5.710000	0.68392	2.894000	0.99253	0.655000	0.94253	GGA		0.512	WLS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025368.1	NM_024911		4	19	0	0	0	1	0	4	19					T	68614298	C	T	68614298	3	4	361	1	0	0	0	0	1	0	0	0	17373	661	23	2	757	2	WLS	1	68614298	Missense_Mutation	SNP	C	TCGA-QU-A6IN-01A-11D-A31L-08	24701076	68614298	180636323	2	18054											
COL11A1	1301	broad.mit.edu	37	chr1	103468003	103468003	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgaggtcctggattccctTgttgacctggaggcccaggc	5	10	13	13	0	0	2	0	2	0	0	2	4	2	4	5	5	0	1	5	5	0	3			TCGA-QU-A6IN-01A-11D-A31L-08	TCGA-QU-A6IN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8799b1d-3e1e-4d2a-ac5c-63509cd01c8b	9a41f5ef-4649-44de-883f-c7c0c4ee5de4	g.chr1:103468003T>A	ENST00000370096.3	-	23	2390	c.2078A>T	c.(2077-2079)cAa>cTa	p.Q693L	COL11A1_ENST00000512756.1_Missense_Mutation_p.Q577L|COL11A1_ENST00000353414.4_Missense_Mutation_p.Q654L|COL11A1_ENST00000358392.2_Missense_Mutation_p.Q705L|COL11A1_ENST00000461720.1_5'UTR	NM_001854.3	NP_001845.3	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	693	Collagen-like 5.|Triple-helical region.				cartilage condensation (GO:0001502)|chondrocyte development (GO:0002063)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|embryonic skeletal system morphogenesis (GO:0048704)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|proteoglycan metabolic process (GO:0006029)|sensory perception of sound (GO:0007605)|tendon development (GO:0035989)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visual perception (GO:0007601)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		TGGATTCCCTTGTTGACCTGG	0.433																																						ENST00000358392.2																			0				NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258						c.(2113-2115)cAa>cTa		collagen, type XI, alpha 1							39	40	40					1																	103468003		2200	4299	6499	SO:0001583	missense	1301				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging	g.chr1:103468003T>A	J04177	CCDS778.1, CCDS780.1, CCDS780.2, CCDS53348.1	1p21	2013-01-16			ENSG00000060718	ENSG00000060718		"Collagens"	2186	protein-coding gene	gene with protein product	"collagen XI, alpha-1 polypeptide"	120280		COLL6		3182841	Standard	NM_080630		Approved	STL2, CO11A1	uc001dul.3	P12107	OTTHUMG00000010872	ENST00000370096.3:c.2078A>T	1.37:g.103468003T>A	ENSP00000359114:p.Gln693Leu					COL11A1_ENST00000353414.4_Missense_Mutation_p.Q654L|COL11A1_ENST00000461720.1_5'UTR|COL11A1_ENST00000512756.1_Missense_Mutation_p.Q577L|COL11A1_ENST00000370096.3_Missense_Mutation_p.Q693L	p.Q705L	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)	23	2431	-		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)	693			Triple-helical region.		B1ASK7|D3DT73|E9PCU0|Q14034|Q149N0|Q9UIT4|Q9UIT5|Q9UIT6	Missense_Mutation	SNP	ENST00000370096.3	37	c.2114A>T	CCDS778.1	.	.	.	.	.	.	.	.	.	.	T	29.4	5.002301	0.93227	.	.	ENSG00000060718	ENST00000370096;ENST00000358392;ENST00000353414;ENST00000512756	D;D;D;D	0.95788	-3.81;-3.81;-3.81;-3.81	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	D	0.95915	0.8670	L	0.41906	1.305	0.80722	D	1	D;D;D;D	0.64830	0.987;0.992;0.992;0.994	D;D;D;D	0.76575	0.953;0.979;0.979;0.988	D	0.96911	0.9667	10	0.72032	D	0.01	.	16.5764	0.84681	0.0:0.0:0.0:1.0	.	577;654;705;693	E9PCU0;P12107-3;P12107-2;P12107	.;.;.;COBA1_HUMAN	L	693;705;654;577	ENSP00000359114:Q693L;ENSP00000351163:Q705L;ENSP00000302551:Q654L;ENSP00000426533:Q577L	ENSP00000302551:Q654L	Q	-	2	0	COL11A1	103240591	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.422000	0.80217	2.371000	0.80710	0.533000	0.62120	CAA		0.433	COL11A1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000029997.1	NM_080630		7	11	0	0	0	1	0	7	11					A	103468003	T	A	103468003	3	1	361	1	0	0	0	0	1	0	0	0	3667	1812	63	5	3522	5	COL11A1	1	103468003	Missense_Mutation	SNP	T	TCGA-QU-A6IN-01A-11D-A31L-08	34853705	103468003	145782618	3	18055											
OR2W5	441932	broad.mit.edu	37	chr1	247654714	247654714	+	RNA	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagaagaccatcacctaccaCggctgtgtggcccaactcta	11	7	9	14	1	2	2	1	0	1	2	2	3	2	2	4	2	2	1	4	2	4	2	rs201479742	byFrequency	TCGA-QU-A6IN-01A-11D-A31L-08	TCGA-QU-A6IN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8799b1d-3e1e-4d2a-ac5c-63509cd01c8b	9a41f5ef-4649-44de-883f-c7c0c4ee5de4	g.chr1:247654714C>T	ENST00000522351.1	+	0	345							A6NFC9	OR2W5_HUMAN	olfactory receptor, family 2, subfamily W, member 5							integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.H95H(1)		breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(24)|ovary(1)|skin(4)	39	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.222)	OV - Ovarian serous cystadenocarcinoma(106;0.0188)			TCACCTACCACGGCTGTGTGG	0.557													C|||	13	0.00259585	0	0	5008	,	,		20189	0		0	False		,,,				2504	0.0133					ENST00000522351.1																			1	Substitution - coding silent(1)	p.H95H(1)	lung(1)	breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(24)|ovary(1)|skin(4)	39															87	87	87					1																	247654714		2203	4300	6503			0				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:247654714C>T			1q44	2013-03-27		2004-03-10	ENSG00000203664	ENSG00000203664		"GPCR / Class A : Olfactory receptors"	15424	other	unknown				OR2W5P		12213199	Standard	NM_001004698		Approved	OST722	uc001icz.2	A6NFC9	OTTHUMG00000040573		1.37:g.247654714C>T										A6NFC9	OR2W5_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0188)		0	345	+	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.222)						B9EH85	RNA	SNP	ENST00000522351.1	37																																																																																						0.557	OR2W5-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000375789.1	NM_001004698		5	68	0	0	0	1	0	5	68					T	247654714	C	T	247654714	1	4	361	0	1	0	0	0	0	0	0	0	11034	535	19	1		1	OR2W5	1	247654714	RNA	SNP	C	TCGA-QU-A6IN-01A-11D-A31L-08	144186711	247654714	1595907	4	18056											
ALMS1	7840	broad.mit.edu	37	chr2	73828485	73828485	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtcaggggcagcacctggaCggtcggggctacctggcagg	6	6	18	11	2	1	0	1	0	0	0	2	1	1	1	2	8	2	4	2	8	1	1	rs370981817		TCGA-QU-A6IN-01A-11D-A31L-08	TCGA-QU-A6IN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8799b1d-3e1e-4d2a-ac5c-63509cd01c8b	9a41f5ef-4649-44de-883f-c7c0c4ee5de4	g.chr2:73828485C>T	ENST00000264448.6	+	19	12144	c.12033C>T	c.(12031-12033)gaC>gaT	p.D4011D	ALMS1_ENST00000464408.2_3'UTR|ALMS1_ENST00000409009.1_Silent_p.D3969D	NM_015120.4	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	4011					endosomal transport (GO:0016197)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of stress fiber assembly (GO:0051492)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						AGCACCTGGACGGTCGGGGCT	0.592																																						ENST00000264448.6																			0				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						c.(12031-12033)gaC>gaT		Alstrom syndrome 1		C		0,4396		0,0,2198	51	59	57		12033	-5.9	0	2		57	1,8595	1.2+/-3.3	0,1,4297	no	coding-synonymous	ALMS1	NM_015120.4		0,1,6495	TT,TC,CC		0.0116,0.0,0.0077		4011/4168	73828485	1,12991	2198	4298	6496	SO:0001819	synonymous_variant	7840				G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole		g.chr2:73828485C>T	AB002326	CCDS42697.1	2p13.1	2014-09-17			ENSG00000116127	ENSG00000116127			428	protein-coding gene	gene with protein product		606844				9063741	Standard	NM_015120		Approved	KIAA0328	uc002sje.1	Q8TCU4	OTTHUMG00000152812	ENST00000264448.6:c.12033C>T	2.37:g.73828485C>T						ALMS1_ENST00000409009.1_Silent_p.D3969D|ALMS1_ENST00000464408.2_3'UTR	p.D4011D	NM_015120.4	NP_055935.4	Q8TCU4	ALMS1_HUMAN			19	12144	+			4011					Q53S05|Q580Q8|Q86VP9|Q9Y4G4	Silent	SNP	ENST00000264448.6	37	c.12033C>T	CCDS42697.1																																																																																				0.592	ALMS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000327776.1	NM_015120		34	52	0	0	0	1	0	34	52					T	73828485	C	T	73828485	2	4	361	1	0	0	0	0	0	0	0	1	535	535	19	1		1	ALMS1	2	73828485	Silent	SNP	C	TCGA-QU-A6IN-01A-11D-A31L-08		73828485	169370888	5	18057											
PTPN4	5775	broad.mit.edu	37	chr2	120567473	120567473	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgctggcagaacctacaatgTacgagcatcagagttggccc	11	8	11	11	1	1	2	1	0	0	2	1	3	1	2	2	2	5	5	2	2	4	3			TCGA-QU-A6IN-01A-11D-A31L-08	TCGA-QU-A6IN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8799b1d-3e1e-4d2a-ac5c-63509cd01c8b	9a41f5ef-4649-44de-883f-c7c0c4ee5de4	g.chr2:120567473T>A	ENST00000263708.2	+	2	815	c.44T>A	c.(43-45)gTa>gAa	p.V15E		NM_002830.3	NP_002821.1	P29074	PTN4_HUMAN	protein tyrosine phosphatase, non-receptor type 4 (megakaryocyte)	15					peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoskeleton (GO:0005856)	non-membrane spanning protein tyrosine phosphatase activity (GO:0004726)			endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|urinary_tract(1)	30					Alendronate(DB00630)	ACCTACAATGTACGAGCATCA	0.403																																						ENST00000263708.2																			0				endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|urinary_tract(1)	30						c.(43-45)gTa>gAa		protein tyrosine phosphatase, non-receptor type 4 (megakaryocyte)	Alendronate(DB00630)						130	117	121					2																	120567473		2203	4300	6503	SO:0001583	missense	5775					cytoplasm|cytoskeleton|internal side of plasma membrane	cytoskeletal protein binding|non-membrane spanning protein tyrosine phosphatase activity	g.chr2:120567473T>A		CCDS2129.1	2q14.2	2011-06-09			ENSG00000088179	ENSG00000088179		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"	9656	protein-coding gene	gene with protein product		176878				1648233	Standard	NM_002830		Approved	PTPMEG	uc002tmf.2	P29074	OTTHUMG00000131436	ENST00000263708.2:c.44T>A	2.37:g.120567473T>A	ENSP00000263708:p.Val15Glu						p.V15E	NM_002830.3	NP_002821.1	P29074	PTN4_HUMAN			2	815	+			15					B2RBV8|Q9UDA7	Missense_Mutation	SNP	ENST00000263708.2	37	c.44T>A	CCDS2129.1	.	.	.	.	.	.	.	.	.	.	T	32	5.135915	0.94517	.	.	ENSG00000088179	ENST00000263708;ENST00000420482;ENST00000488279	T;T;D	0.83250	-0.91;0.57;-1.7	5.94	5.94	0.96194	.	0.000000	0.85682	D	0.000000	D	0.88923	0.6569	L	0.59436	1.845	0.80722	D	1	D	0.71674	0.998	D	0.66497	0.944	D	0.89414	0.3705	10	0.59425	D	0.04	.	16.0522	0.80772	0.0:0.0:0.0:1.0	.	15	P29074	PTN4_HUMAN	E	15	ENSP00000263708:V15E;ENSP00000405763:V15E;ENSP00000438445:V15E	ENSP00000263708:V15E	V	+	2	0	PTPN4	120283943	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.611000	0.82962	2.269000	0.75478	0.455000	0.32223	GTA		0.403	PTPN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254233.2			3	51	0	0	0	1	0	3	51					A	120567473	T	A	120567473	3	1	361	1	0	0	0	0	1	0	0	0	12790	1638	57	5	46	5	PTPN4	2	120567473	Missense_Mutation	SNP	T	TCGA-QU-A6IN-01A-11D-A31L-08	46738988	120567473	122631900	6	18058											
FAM123C	205147	broad.mit.edu	37	chr2	131521766	131521766	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	atgggcagtgggctctttggGcagcgctgggccaggggccc	4	7	19	11	1	1	0	0	0	1	0	1	0	1	0	2	6	1	4	2	6	0	1			TCGA-QU-A6IN-01A-11D-A31L-08	TCGA-QU-A6IN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8799b1d-3e1e-4d2a-ac5c-63509cd01c8b	9a41f5ef-4649-44de-883f-c7c0c4ee5de4	g.chr2:131521766G>A	ENST00000423981.1	+	2	2231	c.2121G>A	c.(2119-2121)ggG>ggA	p.G707G	AMER3_ENST00000321420.4_Silent_p.G707G	NM_001105193.1|NM_001105194.1|NM_001105195.1|NM_152698.2	NP_001098663.1|NP_001098664.1|NP_001098665.1|NP_689911.2	Q8N944	AMER3_HUMAN	APC membrane recruitment protein 3	707					Wnt signaling pathway (GO:0016055)	plasma membrane (GO:0005886)	lipid binding (GO:0008289)										GGCTCTTTGGGCAGCGCTGGG	0.642																																						ENST00000423981.1																			0											c.(2119-2121)ggG>ggA		APC membrane recruitment protein 3							31	31	31					2																	131521766		2203	4300	6503	SO:0001819	synonymous_variant	205147							g.chr2:131521766G>A	AK095696	CCDS2164.1	2q21.1	2012-12-03	2012-12-03	2012-12-03	ENSG00000178171	ENSG00000178171		"-"	26771	protein-coding gene	gene with protein product			"family with sequence similarity 123C"	FAM123C		20843316	Standard	NM_001105195		Approved	FLJ38377	uc002trw.2	Q8N944	OTTHUMG00000131637	ENST00000423981.1:c.2121G>A	2.37:g.131521766G>A						AMER3_ENST00000321420.4_Silent_p.G707G	p.G707G	NM_001105193.1|NM_001105194.1|NM_001105195.1|NM_152698.2	NP_001098663.1|NP_001098664.1|NP_001098665.1|NP_689911.2					2	2231	+								B7ZLH6	Silent	SNP	ENST00000423981.1	37	c.2121G>A	CCDS2164.1																																																																																				0.642	AMER3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254531.3	NM_152698		5	26	0	0	0	1	0	5	26					A	131521766	G	A	131521766	2	1	361	1	0	0	0	0	0	0	0	1	5424	1190	42	3		3	FAM123C	2	131521766	Silent	SNP	G	TCGA-QU-A6IN-01A-11D-A31L-08	10954293	131521766	111677607	7	18059											
CCDC48	79825	broad.mit.edu	37	chr3	128758620	128758620	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccttggctgcctgccagctgTtgcggagacagccctcggca	5	8	13	15	2	0	1	0	0	0	1	1	2	0	1	4	3	5	4	4	3	0	2			TCGA-QU-A6IN-01A-11D-A31L-08	TCGA-QU-A6IN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8799b1d-3e1e-4d2a-ac5c-63509cd01c8b	9a41f5ef-4649-44de-883f-c7c0c4ee5de4	g.chr3:128758620T>C	ENST00000480450.1	+	8	1726	c.1726T>C	c.(1726-1728)Ttg>Ctg	p.L576L	EFCC1_ENST00000436022.2_Silent_p.L139L			Q9HA90	EFCC1_HUMAN	EF-hand and coiled-coil domain containing 1	576							calcium ion binding (GO:0005509)										CTGCCAGCTGTTGCGGAGACA	0.667																																						ENST00000436022.2																			0											c.(415-417)Ttg>Ctg		EF-hand and coiled-coil domain containing 1							54	51	52					3																	128758620		2203	4300	6503	SO:0001819	synonymous_variant	79825							g.chr3:128758620T>C	AK022119	CCDS3054.1, CCDS3054.2	3q21.3	2013-01-11	2013-01-11	2013-01-11	ENSG00000114654	ENSG00000114654		"EF-hand domain containing"	25692	protein-coding gene	gene with protein product			"chromosome 3 open reading frame 73", "coiled-coil domain containing 48"	C3orf73, CCDC48			Standard	NM_024768		Approved	FLJ12057	uc011bkt.2	Q9HA90	OTTHUMG00000158996	ENST00000480450.1:c.1726T>C	3.37:g.128758620T>C						EFCC1_ENST00000480450.1_Silent_p.L576L	p.L139L	NM_024768.2	NP_079044.2					8	1726	+								A8MYE2	Silent	SNP	ENST00000480450.1	37	c.415T>C	CCDS3054.2																																																																																				0.667	EFCC1-001	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000352832.1	NM_024768		6	85	0	0	0	1	0	6	85					C	128758620	T	C	128758620	2	2	361	1	0	0	0	0	0	0	0	1	2819	1722	60	4		4	CCDC48	3	128758620	Silent	SNP	T	TCGA-QU-A6IN-01A-11D-A31L-08		128758620	69263810	8	18060											
PIK3CA	5290	broad.mit.edu	37	chr3	178952085	178952085	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaacaaatgaatgatgcacAtcatggtggctggacaacaa	17	7	10	7	0	1	2	1	2	0	0	1	4	1	3	0	3	3	2	0	3	5	0	rs121913279		TCGA-QU-A6IN-01A-11D-A31L-08	TCGA-QU-A6IN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8799b1d-3e1e-4d2a-ac5c-63509cd01c8b	9a41f5ef-4649-44de-883f-c7c0c4ee5de4	g.chr3:178952085A>G	ENST00000263967.3	+	21	3297	c.3140A>G	c.(3139-3141)cAt>cGt	p.H1047R	RP11-245C23.3_ENST00000609807.1_RNA	NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	1047	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.		H -> L (in BC; unknown pathological significance). {ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16353168}.|H -> R (in CLOVE, KERSEB, CRC, BC and OC; also found in an endometrial carcinoma sample; shows an increase in lipid kinase activity; oncogenic in vivo; requires binding to p85 regulatory subunit to induce cellular transformation but not interaction with RAS; may mimic the conformatitonal change triggered by the interaction with RAS; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells; increases lipid kinase activity; may alter the interaction of the PI3K/ PI4K kinase domain with the cell membrane). {ECO:0000269|PubMed:15016963, ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15712344, ECO:0000269|PubMed:15784156, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16114017, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:16353168, ECO:0000269|PubMed:16533766, ECO:0000269|PubMed:17673550, ECO:0000269|PubMed:22658544}.|H -> Y (in MCAP; also found in an endometrial carcinoma sample). {ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:22729224}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.H1047R(1387)|p.H1047L(194)|p.H1047P(1)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	AATGATGCACATCATGGTGGC	0.378	H1047L(EFM19_BREAST)|H1047R(BT20_BREAST)|H1047R(CAL29_URINARY_TRACT)|H1047R(CAL33_UPPER_AERODIGESTIVE_TRACT)|H1047R(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|H1047R(HCC1954_BREAST)|H1047R(HCT116_LARGE_INTESTINE)|H1047R(HSC2_UPPER_AERODIGESTIVE_TRACT)|H1047R(LS180_LARGE_INTESTINE)|H1047R(MCAS_OVARY)|H1047R(MDAMB453_BREAST)|H1047R(NCIH1048_LUNG)|H1047R(RKO_LARGE_INTESTINE)|H1047R(SKOV3_OVARY)|H1047R(T47D_BREAST)	57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	ENST00000263967.3	H1047L(EFM19_BREAST)|H1047R(BT20_BREAST)|H1047R(CAL29_URINARY_TRACT)|H1047R(CAL33_UPPER_AERODIGESTIVE_TRACT)|H1047R(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|H1047R(HCC1954_BREAST)|H1047R(HCT116_LARGE_INTESTINE)|H1047R(HSC2_UPPER_AERODIGESTIVE_TRACT)|H1047R(LS180_LARGE_INTESTINE)|H1047R(MCAS_OVARY)|H1047R(MDAMB453_BREAST)|H1047R(NCIH1048_LUNG)|H1047R(RKO_LARGE_INTESTINE)|H1047R(SKOV3_OVARY)|H1047R(T47D_BREAST)	57		Dom	yes		3	3q26.3	5290	Mis	"phosphoinositide-3-kinase, catalytic, alpha polypeptide"			"E, O"			"colorectal, gastric, gliobastoma, breast"		1582	Substitution - Missense(1582)	p.H1047R(1387)|p.H1047L(194)|p.H1047P(1)	breast(961)|large_intestine(245)|endometrium(114)|ovary(77)|urinary_tract(36)|upper_aerodigestive_tract(26)|lung(19)|central_nervous_system(19)|stomach(19)|haematopoietic_and_lymphoid_tissue(11)|thyroid(10)|NS(9)|liver(7)|kidney(6)|soft_tissue(6)|skin(4)|prostate(4)|pituitary(3)|pancreas(3)|meninges(1)|cervix(1)|bone(1)	NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269						c.(3139-3141)cAt>cGt		phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha							99	89	92					3																	178952085		1912	4130	6042	SO:0001583	missense	5290				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	g.chr3:178952085A>G		CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"phosphoinositide-3-kinase, catalytic, alpha polypeptide"			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.3140A>G	3.37:g.178952085A>G	ENSP00000263967:p.His1047Arg	HNSCC(19;0.045)|TSP Lung(28;0.18)					p.H1047R	NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		21	3297	+	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		1047		H -> L (in cancer).|H -> R (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; requires binding to p85 regulatory subunit to induce cellular transformation but not interaction with RAS; may mimic the conformatitonal change triggered by the interaction with RAS; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells; increases lipid kinase activity; may alter the interaction of the PI3K/ PI4K kinase domain with the cell membrane).|H -> Y (in cancer).	PI3K/PI4K.		Q14CW1|Q99762	Missense_Mutation	SNP	ENST00000263967.3	37	c.3140A>G	CCDS43171.1	.	.	.	.	.	.	.	.	.	.	A	14.34	2.506328	0.44558	.	.	ENSG00000121879	ENST00000263967	T	0.80214	-1.35	6.08	6.08	0.98989	Protein kinase-like domain (1);Phosphatidylinositol 3-/4-kinase, catalytic (3);	0.000000	0.85682	D	0.000000	T	0.62466	0.2430	N	0.08118	0	0.80722	D	1	P	0.38597	0.639	B	0.28011	0.085	T	0.67526	-0.5648	10	0.40728	T	0.16	-21.2893	16.6512	0.85203	1.0:0.0:0.0:0.0	.	1047	P42336	PK3CA_HUMAN	R	1047	ENSP00000263967:H1047R	ENSP00000263967:H1047R	H	+	2	0	PIK3CA	180434779	1.000000	0.71417	0.996000	0.52242	0.998000	0.95712	8.859000	0.92264	2.333000	0.79357	0.482000	0.46254	CAT		0.378	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2			22	41	0	0	0	1	0	22	41					G	178952085	A	G	178952085	3	3	361	1	0	0	0	0	1	0	0	0	11913	217	8	4	3218	4	PIK3CA	3	178952085	Missense_Mutation	SNP	A	TCGA-QU-A6IN-01A-11D-A31L-08	50193465	178952085	19070345	9	18061											
TLR10	81793	broad.mit.edu	37	chr4	38776169	38776169	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aatttaaatattggaatttcGtaggataattcgggaaaagc	16	13	9	3	2	0	0	0	0	0	0	2	3	0	3	0	3	1	1	0	3	9	8	rs200661388		TCGA-QU-A6IN-01A-11D-A31L-08	TCGA-QU-A6IN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8799b1d-3e1e-4d2a-ac5c-63509cd01c8b	9a41f5ef-4649-44de-883f-c7c0c4ee5de4	g.chr4:38776169G>A	ENST00000308973.4	-	4	1648	c.1043C>T	c.(1042-1044)aCg>aTg	p.T348M	TLR10_ENST00000507953.1_5'Flank|TLR10_ENST00000508334.1_Missense_Mutation_p.T348M|TLR10_ENST00000506111.1_Missense_Mutation_p.T348M|TLR10_ENST00000361424.2_Missense_Mutation_p.T348M	NM_001017388.2|NM_001195107.1|NM_030956.3	NP_001017388.1|NP_001182036.1|NP_112218.2	Q9BXR5	TLR10_HUMAN	toll-like receptor 10	348					immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of inflammatory response (GO:0050729)|regulation of cytokine secretion (GO:0050707)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor signaling pathway (GO:0002224)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	transmembrane signaling receptor activity (GO:0004888)			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(2)	25						TTGGAATTTCGTAGGATAATT	0.333																																						ENST00000308973.4																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(2)	25						c.(1042-1044)aCg>aTg		toll-like receptor 10		G	MET/THR,MET/THR,MET/THR,MET/THR,MET/THR	0,4404		0,0,2202	88	91	90		1043,1043,1043,1001,1043	0.8	0	4		90	2,8598	2.2+/-6.3	0,2,4298	yes	missense,missense,missense,missense,missense	TLR10	NM_001017388.2,NM_001195106.1,NM_001195107.1,NM_001195108.1,NM_030956.3	81,81,81,81,81	0,2,6500	AA,AG,GG		0.0233,0.0,0.0154	possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging	348/812,348/812,348/812,334/798,348/812	38776169	2,13002	2202	4300	6502	SO:0001583	missense	81793				inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway	integral to membrane|plasma membrane	transmembrane receptor activity	g.chr4:38776169G>A	AF296673	CCDS3445.1	4p14	2009-11-23			ENSG00000174123	ENSG00000174123		"CD molecules"	15634	protein-coding gene	gene with protein product		606270				11267672	Standard	NM_030956		Approved	CD290	uc003gtk.3	Q9BXR5	OTTHUMG00000128578	ENST00000308973.4:c.1043C>T	4.37:g.38776169G>A	ENSP00000308925:p.Thr348Met					TLR10_ENST00000361424.2_Missense_Mutation_p.T348M|TLR10_ENST00000508334.1_Missense_Mutation_p.T348M|TLR10_ENST00000506111.1_Missense_Mutation_p.T348M	p.T348M	NM_001017388.2|NM_001195107.1|NM_030956.3	NP_001017388.1|NP_001182036.1|NP_112218.2	Q9BXR5	TLR10_HUMAN			4	1648	-			348					A8K7L1|B3Y668|D1CS21|D1CS22|Q32MI7|Q32MI8|Q5FWG4|Q6UXL3	Missense_Mutation	SNP	ENST00000308973.4	37	c.1043C>T	CCDS3445.1	.	.	.	.	.	.	.	.	.	.	G	3.712	-0.059278	0.07317	0.0	2.33E-4	ENSG00000174123	ENST00000308973;ENST00000506111;ENST00000361424;ENST00000508334	T;T;T;T	0.27104	1.69;1.69;1.69;1.69	4.99	0.793	0.18632	.	0.751284	0.10739	N	0.639705	T	0.16811	0.0404	L	0.36672	1.1	0.09310	N	1	B	0.21309	0.054	B	0.17433	0.018	T	0.33471	-0.9867	10	0.87932	D	0	.	1.5073	0.02489	0.2057:0.2897:0.3624:0.1422	.	348	Q9BXR5	TLR10_HUMAN	M	348	ENSP00000308925:T348M;ENSP00000421483:T348M;ENSP00000354459:T348M;ENSP00000424923:T348M	ENSP00000308925:T348M	T	-	2	0	TLR10	38452564	0.000000	0.05858	0.003000	0.11579	0.317000	0.28152	-0.099000	0.11007	0.099000	0.17552	-0.237000	0.12165	ACG		0.333	TLR10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250430.1			38	46	0	0	0	1	0	38	46					A	38776169	G	A	38776169	3	1	361	1	0	0	0	0	1	0	0	0	15947	1145	40	1	1396	1	TLR10	4	38776169	Missense_Mutation	SNP	G	TCGA-QU-A6IN-01A-11D-A31L-08		38776169	152378107	10	18062											
LPHN3	23284	broad.mit.edu	37	chr4	62813870	62813870	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	attttggagctactccaagcGtacaatgacaggttattggt	11	13	10	7	1	0	1	0	1	0	0	1	2	1	2	1	3	4	3	1	3	5	6	rs372785017		TCGA-QU-A6IN-01A-11D-A31L-08	TCGA-QU-A6IN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8799b1d-3e1e-4d2a-ac5c-63509cd01c8b	9a41f5ef-4649-44de-883f-c7c0c4ee5de4	g.chr4:62813870G>A	ENST00000514591.1	+	16	2806	c.2477G>A	c.(2476-2478)cGt>cAt	p.R826H	LPHN3_ENST00000506700.1_Missense_Mutation_p.R826H|LPHN3_ENST00000508946.1_Missense_Mutation_p.R826H|LPHN3_ENST00000507625.1_Missense_Mutation_p.R894H|LPHN3_ENST00000504896.1_Missense_Mutation_p.R826H|LPHN3_ENST00000512091.2_Missense_Mutation_p.R826H|LPHN3_ENST00000514996.1_Missense_Mutation_p.R826H|LPHN3_ENST00000509896.1_Missense_Mutation_p.R894H|LPHN3_ENST00000506746.1_Missense_Mutation_p.R894H|LPHN3_ENST00000506720.1_Missense_Mutation_p.R894H|LPHN3_ENST00000511324.1_Missense_Mutation_p.R894H|LPHN3_ENST00000507164.1_Missense_Mutation_p.R894H|LPHN3_ENST00000545650.1_Missense_Mutation_p.R826H|LPHN3_ENST00000514157.1_Missense_Mutation_p.R826H|LPHN3_ENST00000508693.1_Missense_Mutation_p.R894H			Q9HAR2	LPHN3_HUMAN	latrophilin 3	813	GPS. {ECO:0000255|PROSITE- ProRule:PRU00098}.				G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|G-protein coupled receptor activity (GO:0004930)	p.R826H(3)		breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						TACTCCAAGCGTACAATGACA	0.383																																						ENST00000512091.1																			3	Substitution - Missense(3)	p.R826H(3)	prostate(3)	breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						c.(2476-2478)cGt>cAt		latrophilin 3		G	HIS/ARG	0,3750		0,0,1875	88	78	81		2477	6	1	4		81	1,8211		0,1,4105	no	missense	LPHN3	NM_015236.4	29	0,1,5980	AA,AG,GG		0.0122,0.0,0.0084	benign	826/1470	62813870	1,11961	1875	4106	5981	SO:0001583	missense	23284				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding	g.chr4:62813870G>A	AB018311	CCDS54768.1	4q13.1	2014-08-08				ENSG00000150471		"-", "GPCR / Class B : Orphans"	20974	protein-coding gene	gene with protein product						10994649	Standard	NM_015236		Approved	KIAA0768, LEC3	uc010ihh.3	Q9HAR2		ENST00000514591.1:c.2477G>A	4.37:g.62813870G>A	ENSP00000422533:p.Arg826His					LPHN3_ENST00000509896.1_Missense_Mutation_p.R894H|LPHN3_ENST00000514591.1_Missense_Mutation_p.R826H|LPHN3_ENST00000545650.1_Missense_Mutation_p.R826H|LPHN3_ENST00000508693.1_Missense_Mutation_p.R894H|LPHN3_ENST00000507164.1_Missense_Mutation_p.R894H|LPHN3_ENST00000508946.1_Missense_Mutation_p.R826H|LPHN3_ENST00000514996.1_Missense_Mutation_p.R826H|LPHN3_ENST00000507625.1_Missense_Mutation_p.R894H|LPHN3_ENST00000506700.1_Missense_Mutation_p.R826H|LPHN3_ENST00000506746.1_Missense_Mutation_p.R894H|LPHN3_ENST00000504896.1_Missense_Mutation_p.R826H|LPHN3_ENST00000514157.1_Missense_Mutation_p.R826H|LPHN3_ENST00000506720.1_Missense_Mutation_p.R894H|LPHN3_ENST00000511324.1_Missense_Mutation_p.R894H	p.R826H			Q9HAR2	LPHN3_HUMAN			16	3224	+			813			GPS.		E9PE04|O94867|Q9NWK5	Missense_Mutation	SNP	ENST00000514591.1	37	c.2477G>A	CCDS54768.1	.	.	.	.	.	.	.	.	.	.	G	19.43	3.826766	0.71143	0.0	1.22E-4	ENSG00000150471	ENST00000512091;ENST00000514591;ENST00000509896;ENST00000511324;ENST00000506700;ENST00000545650;ENST00000295349;ENST00000280009;ENST00000507164;ENST00000508693;ENST00000507625;ENST00000514157;ENST00000504896;ENST00000508946;ENST00000506720;ENST00000506746;ENST00000514996	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.70869	-0.49;-0.49;-0.5;-0.49;-0.48;-0.49;-0.49;-0.5;-0.49;-0.48;-0.49;-0.51;-0.52;-0.51;-0.5	5.98	5.98	0.97165	GPS domain (3);	0.113991	0.53938	D	0.000055	T	0.79094	0.4388	L	0.39467	1.215	0.43564	D	0.995889	D;D;D	0.76494	0.999;0.999;0.993	D;D;P	0.63033	0.91;0.91;0.799	T	0.78339	-0.2242	10	0.56958	D	0.05	.	20.5212	0.99222	0.0:0.0:1.0:0.0	.	826;813;826	E9PE04;Q9HAR2;Q9HAR2-2	.;LPHN3_HUMAN;.	H	826;826;894;894;826;826;813;826;894;894;894;826;826;826;894;894;826	ENSP00000423388:R826H;ENSP00000422533:R826H;ENSP00000423787:R894H;ENSP00000425033:R894H;ENSP00000424120:R826H;ENSP00000439831:R826H;ENSP00000421476:R894H;ENSP00000424030:R894H;ENSP00000421372:R894H;ENSP00000425201:R826H;ENSP00000423434:R826H;ENSP00000421627:R826H;ENSP00000420931:R894H;ENSP00000425884:R894H;ENSP00000424258:R826H	ENSP00000280009:R826H	R	+	2	0	LPHN3	62496465	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	3.479000	0.53165	2.861000	0.98227	0.650000	0.86243	CGT		0.383	LPHN3-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000361765.1			11	13	0	0	0	1	0	11	13					A	62813870	G	A	62813870	3	1	361	1	0	0	0	0	1	0	0	0	8917	1145	40	1	2531	1	LPHN3	4	62813870	Missense_Mutation	SNP	G	TCGA-QU-A6IN-01A-11D-A31L-08	24037701	62813870	128340406	11	18063											
ATOH1	474	broad.mit.edu	37	chr4	94750559	94750559	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tggggtgcagaagcagagacGgctagcagccaacgccaggg	11	3	17	10	2	0	2	0	0	0	2	0	3	0	2	2	4	5	4	2	4	3	1			TCGA-QU-A6IN-01A-11D-A31L-08	TCGA-QU-A6IN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8799b1d-3e1e-4d2a-ac5c-63509cd01c8b	9a41f5ef-4649-44de-883f-c7c0c4ee5de4	g.chr4:94750559G>A	ENST00000306011.3	+	1	518	c.482G>A	c.(481-483)cGg>cAg	p.R161Q		NM_005172.1	NP_005163.1	Q92858	ATOH1_HUMAN	atonal homolog 1 (Drosophila)	161	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				auditory receptor cell fate determination (GO:0042668)|auditory receptor cell fate specification (GO:0042667)|axon guidance (GO:0007411)|central nervous system development (GO:0007417)|cerebral cortex development (GO:0021987)|inner ear morphogenesis (GO:0042472)|negative regulation of apoptotic process (GO:0043066)|neuron migration (GO:0001764)|positive regulation of auditory receptor cell differentiation (GO:0045609)|positive regulation of neuron differentiation (GO:0045666)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	11		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;3.57e-07)		AAGCAGAGACGGCTAGCAGCC	0.617																																						ENST00000306011.3																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	11						c.(481-483)cGg>cAg		atonal homolog 1 (Drosophila)							43	45	44					4																	94750559		2202	4300	6502	SO:0001583	missense	474				transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding transcription factor activity	g.chr4:94750559G>A	U61148	CCDS3638.1	4q22	2013-05-21			ENSG00000172238	ENSG00000172238		"Basic helix-loop-helix proteins"	797	protein-coding gene	gene with protein product		601461				8872459	Standard	NM_005172		Approved	HATH1, MATH-1, Math1, bHLHa14	uc003hta.1	Q92858	OTTHUMG00000130972	ENST00000306011.3:c.482G>A	4.37:g.94750559G>A	ENSP00000302216:p.Arg161Gln						p.R161Q	NM_005172.1	NP_005163.1	Q92858	ATOH1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;3.57e-07)	1	518	+		Hepatocellular(203;0.114)	161					Q14CT9	Missense_Mutation	SNP	ENST00000306011.3	37	c.482G>A	CCDS3638.1	.	.	.	.	.	.	.	.	.	.	G	26.1	4.704185	0.88924	.	.	ENSG00000172238	ENST00000306011	D	0.99143	-5.48	4.41	4.41	0.53225	Helix-loop-helix DNA-binding (4);	0.000000	0.64402	D	0.000001	D	0.99492	0.9819	H	0.95574	3.69	0.58432	D	0.999991	D	0.89917	1.0	D	0.87578	0.998	D	0.98070	1.0398	10	0.87932	D	0	-17.4006	15.9665	0.79974	0.0:0.0:1.0:0.0	.	161	Q92858	ATOH1_HUMAN	Q	161	ENSP00000302216:R161Q	ENSP00000302216:R161Q	R	+	2	0	ATOH1	94969582	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.127000	0.77210	2.291000	0.77112	0.549000	0.68633	CGG		0.617	ATOH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253585.1	NM_005172		29	26	0	0	0	1	0	29	26					A	94750559	G	A	94750559	3	1	361	1	0	0	0	0	1	0	0	0	1112	1116	39	2	484	2	ATOH1	4	94750559	Missense_Mutation	SNP	G	TCGA-QU-A6IN-01A-11D-A31L-08	31936689	94750559	96403717	12	18064											
KIF13A	63971	broad.mit.edu	37	chr6	17855689	17855689	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttggggtctaaaagatccCgaactttctcattataaatt	12	15	6	8	1	2	1	1	0	2	1	4	2	3	1	1	2	1	0	1	2	6	6			TCGA-QU-A6IN-01A-11D-A31L-08	TCGA-QU-A6IN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8799b1d-3e1e-4d2a-ac5c-63509cd01c8b	9a41f5ef-4649-44de-883f-c7c0c4ee5de4	g.chr6:17855689C>T	ENST00000259711.6	-	6	578	c.473G>A	c.(472-474)cGg>cAg	p.R158Q	KIF13A_ENST00000378816.5_Missense_Mutation_p.R158Q|KIF13A_ENST00000378826.2_Missense_Mutation_p.R158Q|KIF13A_ENST00000378843.2_Missense_Mutation_p.R158Q|KIF13A_ENST00000378814.5_Missense_Mutation_p.R158Q	NM_022113.5	NP_071396.4	Q9H1H9	KI13A_HUMAN	kinesin family member 13A	158	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|cargo loading into vesicle (GO:0035459)|cytokinesis (GO:0000910)|endosome to lysosome transport (GO:0008333)|Golgi to plasma membrane protein transport (GO:0043001)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|plus-end-directed vesicle transport along microtubule (GO:0072383)	centrosome (GO:0005813)|endosome membrane (GO:0010008)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|midbody (GO:0030496)|trans-Golgi network membrane (GO:0032588)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	64	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	all cancers(50;0.0865)|Epithelial(50;0.0974)			TAAAAGATCCCGAACTTTCTC	0.338																																						ENST00000378814.5																			0				breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	64						c.(472-474)cGg>cAg		kinesin family member 13A							65	67	66					6																	17855689		1800	4068	5868	SO:0001583	missense	63971				cargo loading into vesicle|cell cycle|cytokinesis|endosome to lysosome transport|Golgi to plasma membrane protein transport|melanosome organization|plus-end-directed vesicle transport along microtubule	centrosome|endosome membrane|microtubule|midbody|trans-Golgi network membrane	ATP binding|microtubule motor activity|protein binding	g.chr6:17855689C>T	AJ291578	CCDS47380.1, CCDS47381.1, CCDS54967.1, CCDS54968.1, CCDS58998.1	6p23	2008-10-21			ENSG00000137177	ENSG00000137177		"Kinesins"	14566	protein-coding gene	gene with protein product		605433				11106728	Standard	NM_022113		Approved	bA500C11.2	uc003ncg.4	Q9H1H9	OTTHUMG00000014313	ENST00000259711.6:c.473G>A	6.37:g.17855689C>T	ENSP00000259711:p.Arg158Gln					KIF13A_ENST00000378843.2_Missense_Mutation_p.R158Q|KIF13A_ENST00000259711.6_Missense_Mutation_p.R158Q|KIF13A_ENST00000378816.5_Missense_Mutation_p.R158Q|KIF13A_ENST00000378826.2_Missense_Mutation_p.R158Q	p.R158Q	NM_001105568.2	NP_001099038.1	Q9H1H9	KI13A_HUMAN	all cancers(50;0.0865)|Epithelial(50;0.0974)		6	472	-	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	158			Kinesin-motor.		A0JP21|A0JP22|F2Z382|Q5THQ2|Q5THQ3|Q9H193|Q9H194|Q9H1H8	Missense_Mutation	SNP	ENST00000259711.6	37	c.473G>A	CCDS47381.1	.	.	.	.	.	.	.	.	.	.	C	37	6.011955	0.97200	.	.	ENSG00000137177	ENST00000378814;ENST00000259711;ENST00000378826;ENST00000378843;ENST00000378816	D;D;D;D;D	0.89196	-2.48;-2.48;-2.48;-2.48;-2.48	5.86	5.86	0.93980	Kinesin, motor domain (4);	0.000000	0.85682	D	0.000000	D	0.93867	0.8038	M	0.71871	2.18	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;0.999;1.0	D;D;D;D	0.85130	0.962;0.997;0.957;0.997	D	0.93551	0.6886	10	0.72032	D	0.01	.	20.1802	0.98196	0.0:1.0:0.0:0.0	.	158;158;158;158	Q9H1H9-4;Q9H1H9-2;Q9H1H9;Q9H1H9-3	.;.;KI13A_HUMAN;.	Q	158	ENSP00000368091:R158Q;ENSP00000259711:R158Q;ENSP00000368103:R158Q;ENSP00000368120:R158Q;ENSP00000368093:R158Q	ENSP00000259711:R158Q	R	-	2	0	KIF13A	17963668	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	7.818000	0.86416	2.777000	0.95525	0.655000	0.94253	CGG		0.338	KIF13A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000039954.4			3	59	0	0	0	1	0	3	59					T	17855689	C	T	17855689	3	4	361	1	0	0	0	0	1	0	0	0	8274	652	23	2	5105	2	KIF13A	6	17855689	Missense_Mutation	SNP	C	TCGA-QU-A6IN-01A-11D-A31L-08		17855689	153259378	13	18065											
HTR1E	3354	broad.mit.edu	37	chr6	87726074	87726074	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtgaattctctgatcaaccCtctgctctatacgagtttta	9	16	6	10	1	4	2	1	2	3	0	5	3	4	2	1	0	3	2	1	0	5	5			TCGA-QU-A6IN-01A-11D-A31L-08	TCGA-QU-A6IN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8799b1d-3e1e-4d2a-ac5c-63509cd01c8b	9a41f5ef-4649-44de-883f-c7c0c4ee5de4	g.chr6:87726074C>T	ENST00000305344.5	+	2	1725	c.1022C>T	c.(1021-1023)cCt>cTt	p.P341L		NM_000865.2	NP_000856.1	P28566	5HT1E_HUMAN	5-hydroxytryptamine (serotonin) receptor 1E, G protein-coupled	341					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|negative regulation of cAMP metabolic process (GO:0030815)|serotonin receptor signaling pathway (GO:0007210)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)			breast(3)|endometrium(2)|kidney(3)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(3)	41		all_cancers(76;7.11e-06)|Acute lymphoblastic leukemia(125;1.2e-09)|Prostate(29;3.51e-09)|all_hematologic(105;7.43e-06)|all_epithelial(107;0.00819)		BRCA - Breast invasive adenocarcinoma(108;0.055)	Aripiprazole(DB01238)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Ketamine(DB01221)|Loxapine(DB00408)|Methysergide(DB00247)|Olanzapine(DB00334)|Quetiapine(DB01224)|Ziprasidone(DB00246)	CTGATCAACCCTCTGCTCTAT	0.433																																						ENST00000305344.4																			0				breast(3)|endometrium(2)|kidney(3)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(3)	41						c.(1021-1023)cCt>cTt		5-hydroxytryptamine (serotonin) receptor 1E, G protein-coupled	Eletriptan(DB00216)						105	112	109					6																	87726074		2203	4300	6503	SO:0001583	missense	3354				G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	protein binding|serotonin binding|serotonin receptor activity	g.chr6:87726074C>T		CCDS5006.1	6q14-q15	2013-06-19	2012-02-03		ENSG00000168830	ENSG00000168830		"5-HT (serotonin) receptors", "GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"	5291	protein-coding gene	gene with protein product		182132	"5-hydroxytryptamine (serotonin) receptor 1E"			1608964	Standard	NM_000865		Approved	5-HT1E	uc003pli.3	P28566	OTTHUMG00000015154	ENST00000305344.5:c.1022C>T	6.37:g.87726074C>T	ENSP00000307766:p.Pro341Leu					HTR1E_ENST00000369584.1_Missense_Mutation_p.P341L	p.P341L	NM_000865.2	NP_000856.1	P28566	5HT1E_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.055)	2	1725	+		all_cancers(76;7.11e-06)|Acute lymphoblastic leukemia(125;1.2e-09)|Prostate(29;3.51e-09)|all_hematologic(105;7.43e-06)|all_epithelial(107;0.00819)	341					E1P503|Q9P1Y1	Missense_Mutation	SNP	ENST00000305344.5	37	c.1022C>T	CCDS5006.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.163664	0.78226	.	.	ENSG00000168830	ENST00000305344;ENST00000369584	D;D	0.98807	-5.15;-5.15	4.61	4.61	0.57282	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	U	0.000008	D	0.99594	0.9853	H	0.99104	4.43	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97423	1.0010	10	0.87932	D	0	.	17.4189	0.87508	0.0:1.0:0.0:0.0	.	341	P28566	5HT1E_HUMAN	L	341	ENSP00000307766:P341L;ENSP00000358597:P341L	ENSP00000307766:P341L	P	+	2	0	HTR1E	87782793	1.000000	0.71417	0.999000	0.59377	0.950000	0.60333	7.320000	0.79064	2.119000	0.64992	0.407000	0.27541	CCT		0.433	HTR1E-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000472488.2	NM_000865		50	73	0	0	0	1	0	50	73					T	87726074	C	T	87726074	3	4	361	1	0	0	0	0	1	0	0	0	7439	681	24	3	1024	3	HTR1E	6	87726074	Missense_Mutation	SNP	C	TCGA-QU-A6IN-01A-11D-A31L-08	69870385	87726074	83388993	14	18066											
TNRC18	84629	broad.mit.edu	37	chr7	5352528	5352530	+	In_Frame_Del	DEL	GAG	GAG	-																															tggaggaagaagaggaggaaGaggaggaggaggaggaggat																								rs376153797		TCGA-QU-A6IN-01A-11D-A31L-08	TCGA-QU-A6IN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8799b1d-3e1e-4d2a-ac5c-63509cd01c8b	9a41f5ef-4649-44de-883f-c7c0c4ee5de4	g.chr7:5352528_5352530delGAG	ENST00000430969.1	-	27	8340_8342	c.7992_7994delCTC	c.(7990-7995)tcctct>tct	p.2664_2665SS>S	TNRC18_ENST00000399537.4_In_Frame_Del_p.2664_2665SS>S	NM_001080495.2	NP_001073964.2	O15417	TNC18_HUMAN	trinucleotide repeat containing 18	2664	Ser-rich.						chromatin binding (GO:0003682)	p.S2671delS(2)|p.P1177delP(1)		central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)	11		Ovarian(82;0.142)		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)		agaggaggaagaggaggaggagg	0.64																																						ENST00000399537.4																			3	Deletion - In frame(3)	p.S2671delS(2)|p.P1177delP(1)	prostate(3)	central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)	11						c.(7990-7995)tct>tc		trinucleotide repeat containing 18				64,3888		3,58,1915						-4.8	0.9			7	110,7474		3,104,3685	no	coding	TNRC18	NM_001080495.2		6,162,5600	A1A1,A1R,RR		1.4504,1.6194,1.5083				174,11362				SO:0001651	inframe_deletion	84629						DNA binding	g.chr7:5352528_5352530delGAG	U80753	CCDS47534.1	7p22.1	2012-04-17			ENSG00000182095	ENSG00000182095		"Trinucleotide (CAG) repeat containing"	11962	protein-coding gene	gene with protein product						9225980	Standard	NM_001080495		Approved	CAGL79, TNRC18A, KIAA1856	uc003soi.4	O15417	OTTHUMG00000151831	ENST00000430969.1:c.7992_7994delCTC	7.37:g.5352537_5352539delGAG	ENSP00000395538:p.Ser2671del					TNRC18_ENST00000430969.1_In_Frame_Del_p.SS2670del	p.SS2670del			O15417	TNC18_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)	27	8340_8342	-		Ovarian(82;0.142)	2670			Ser-rich.		A8MX41|Q96JH1|Q96K91	In_Frame_Del	DEL	ENST00000430969.1	37	c.7992_7994delCTC	CCDS47534.1																																																																																				0.64	TNRC18-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding				2	4						2	4	---	---	---	---	-	5352530	GAG	-	5352528	7	5	361	1	0	1	0	1	0	0	0	0	16336	942	33	0	928	0	TNRC18	7	5352528	In_Frame_Del	DEL	GAG	TCGA-QU-A6IN-01A-11D-A31L-08		5352528	153786135	15	18067											
UHRF2	115426	broad.mit.edu	37	chr9	6504676	6504676	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cctgtgacaactgagtgcttCcacaatgtctgtaaagtaag	12	11	9	9	0	1	2	0	2	1	0	2	2	2	2	2	0	2	3	2	0	5	3			TCGA-QU-A6IN-01A-11D-A31L-08	TCGA-QU-A6IN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8799b1d-3e1e-4d2a-ac5c-63509cd01c8b	9a41f5ef-4649-44de-883f-c7c0c4ee5de4	g.chr9:6504676C>T	ENST00000276893.5	+	15	2415	c.2247C>T	c.(2245-2247)ttC>ttT	p.F749F	UHRF2_ENST00000485617.2_3'UTR	NM_152896.2	NP_690856.1	Q96PU4	UHRF2_HUMAN	ubiquitin-like with PHD and ring finger domains 2, E3 ubiquitin protein ligase	749					cell cycle (GO:0007049)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|positive regulation of cell cycle arrest (GO:0071158)|protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)|regulation of cell cycle (GO:0051726)|ubiquitin-dependent protein catabolic process (GO:0006511)	nuclear heterochromatin (GO:0005720)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone binding (GO:0042393)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			cervix(2)|endometrium(2)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)	17		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.0392)|Lung(218;0.129)		CTGAGTGCTTCCACAATGTCT	0.383																																						ENST00000276893.5																			0				cervix(2)|endometrium(2)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)	17						c.(2245-2247)ttC>ttT		ubiquitin-like with PHD and ring finger domains 2, E3 ubiquitin protein ligase							90	83	85					9																	6504676		2203	4300	6503	SO:0001819	synonymous_variant	115426				cell cycle|cell differentiation|cell proliferation|protein autoubiquitination|regulation of cell cycle|ubiquitin-dependent protein catabolic process	nucleus	DNA binding|histone binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr9:6504676C>T	AF274049	CCDS6469.1	9p24.1	2013-01-28	2012-02-23		ENSG00000147854	ENSG00000147854		"RING-type (C3HC4) zinc fingers", "Zinc fingers, PHD-type"	12557	protein-coding gene	gene with protein product	"Np95-like ring finger protein"	615211	"ubiquitin-like with PHD and ring finger domains 2"			12176013	Standard	NM_152896		Approved	RNF107, NIRF, URF2, MGC33463	uc003zjy.3	Q96PU4	OTTHUMG00000019521	ENST00000276893.5:c.2247C>T	9.37:g.6504676C>T						UHRF2_ENST00000485617.2_3'UTR	p.F749F	NM_152896.2	NP_690856.1	Q96PU4	UHRF2_HUMAN		GBM - Glioblastoma multiforme(50;0.0392)|Lung(218;0.129)	15	2415	+		Acute lymphoblastic leukemia(23;0.158)	749					Q5VYR1|Q5VYR3|Q659C8|Q8TAG7	Silent	SNP	ENST00000276893.5	37	c.2247C>T	CCDS6469.1																																																																																				0.383	UHRF2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051665.3	NM_152306		9	11	0	0	0	1	0	9	11					T	6504676	C	T	6504676	2	4	361	1	0	0	0	0	0	0	0	1	16967	854	30	3		3	UHRF2	9	6504676	Silent	SNP	C	TCGA-QU-A6IN-01A-11D-A31L-08		6504676	134708755	16	18068											
PTCH1	5727	broad.mit.edu	37	chr9	98222052	98222052	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgccatctgcatccaccagaCgctgtttagtcaactacaaa	12	10	6	13	1	2	1	1	0	1	1	3	1	3	1	3	0	4	3	3	0	4	3			TCGA-QU-A6IN-01A-11D-A31L-08	TCGA-QU-A6IN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8799b1d-3e1e-4d2a-ac5c-63509cd01c8b	9a41f5ef-4649-44de-883f-c7c0c4ee5de4	g.chr9:98222052C>T	ENST00000331920.6	-	17	3016	c.2717G>A	c.(2716-2718)cGt>cAt	p.R906H	PTCH1_ENST00000421141.1_Missense_Mutation_p.R755H|PTCH1_ENST00000437951.1_Missense_Mutation_p.R840H|PTCH1_ENST00000429896.2_Missense_Mutation_p.R755H|PTCH1_ENST00000375274.2_Missense_Mutation_p.R905H|PTCH1_ENST00000430669.2_Missense_Mutation_p.R840H|PTCH1_ENST00000418258.1_Missense_Mutation_p.R755H	NM_000264.3	NP_000255.2	Q13635	PTC1_HUMAN	patched 1	906					brain development (GO:0007420)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell differentiation involved in kidney development (GO:0061005)|cell proliferation involved in metanephros development (GO:0072203)|cellular response to cholesterol (GO:0071397)|dorsal/ventral pattern formation (GO:0009953)|embryonic limb morphogenesis (GO:0030326)|embryonic organ development (GO:0048568)|epidermis development (GO:0008544)|glucose homeostasis (GO:0042593)|heart morphogenesis (GO:0003007)|hindlimb morphogenesis (GO:0035137)|in utero embryonic development (GO:0001701)|keratinocyte proliferation (GO:0043616)|limb morphogenesis (GO:0035108)|mammary gland duct morphogenesis (GO:0060603)|mammary gland epithelial cell differentiation (GO:0060644)|negative regulation of cell division (GO:0051782)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural plate axis specification (GO:0021997)|neural tube closure (GO:0001843)|neural tube patterning (GO:0021532)|organ morphogenesis (GO:0009887)|pharyngeal system development (GO:0060037)|positive regulation of cholesterol efflux (GO:0010875)|protein processing (GO:0016485)|protein targeting to plasma membrane (GO:0072661)|regulation of mitotic cell cycle (GO:0007346)|regulation of protein localization (GO:0032880)|regulation of smoothened signaling pathway (GO:0008589)|renal system development (GO:0072001)|response to chlorate (GO:0010157)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to mechanical stimulus (GO:0009612)|response to retinoic acid (GO:0032526)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)|somite development (GO:0061053)|spinal cord motor neuron differentiation (GO:0021522)	axonal growth cone (GO:0044295)|caveola (GO:0005901)|dendritic growth cone (GO:0044294)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|midbody (GO:0030496)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|primary cilium (GO:0072372)	cholesterol binding (GO:0015485)|cyclin binding (GO:0030332)|hedgehog family protein binding (GO:0097108)|hedgehog receptor activity (GO:0008158)|heparin binding (GO:0008201)|smoothened binding (GO:0005119)			NS(8)|bone(33)|breast(10)|central_nervous_system(95)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(8)|kidney(2)|large_intestine(18)|lung(22)|meninges(1)|oesophagus(3)|ovary(6)|prostate(2)|skin(262)|upper_aerodigestive_tract(11)|urinary_tract(2)|vulva(1)	490		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)				ATCCACCAGACGCTGTTTAGT	0.537																																						ENST00000430669.2																			0				NS(8)|bone(33)|breast(10)|central_nervous_system(95)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(8)|kidney(2)|large_intestine(18)|lung(22)|meninges(1)|oesophagus(3)|ovary(6)|prostate(2)|skin(262)|upper_aerodigestive_tract(11)|urinary_tract(2)|vulva(1)	490						c.(2518-2520)cGt>cAt		patched 1							68	62	64					9																	98222052		2203	4300	6503	SO:0001583	missense	5727				embryonic limb morphogenesis|negative regulation of multicellular organism growth|protein processing|regulation of smoothened signaling pathway|smoothened signaling pathway	integral to plasma membrane	hedgehog receptor activity	g.chr9:98222052C>T	AI494442	CCDS6714.1, CCDS43851.1, CCDS47995.1, CCDS47996.1	9q22.1-q31	2014-09-17	2010-06-24	2006-09-26	ENSG00000185920	ENSG00000185920			9585	protein-coding gene	gene with protein product		601309	"patched (Drosophila) homolog", "patched homolog (Drosophila)", "patched homolog 1 (Drosophila)"	NBCCS, PTCH		8658145	Standard	NM_001083603		Approved	BCNS	uc004avk.4	Q13635	OTTHUMG00000020280	ENST00000331920.6:c.2717G>A	9.37:g.98222052C>T	ENSP00000332353:p.Arg906His					PTCH1_ENST00000437951.1_Missense_Mutation_p.R840H|PTCH1_ENST00000421141.1_Missense_Mutation_p.R755H|PTCH1_ENST00000331920.6_Missense_Mutation_p.R906H|PTCH1_ENST00000418258.1_Missense_Mutation_p.R755H|PTCH1_ENST00000375274.2_Missense_Mutation_p.R905H|PTCH1_ENST00000429896.2_Missense_Mutation_p.R755H	p.R840H			Q13635	PTC1_HUMAN			17	3104	-		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)	906					A3KBI9|E9PEJ8|Q13463|Q5R1U7|Q5R1U9|Q5R1V0|Q5VZC0|Q5VZC2|Q86XG7	Missense_Mutation	SNP	ENST00000331920.6	37	c.2519G>A	CCDS6714.1	.	.	.	.	.	.	.	.	.	.	C	23.8	4.461484	0.84317	.	.	ENSG00000185920	ENST00000331920;ENST00000437951;ENST00000421141;ENST00000418258;ENST00000375275;ENST00000430669;ENST00000429896;ENST00000375274	D;D;D;D;D;D;D	0.93659	-3.25;-3.23;-3.23;-3.23;-3.23;-3.23;-3.26	5.0	5.0	0.66597	.	0.000000	0.85682	D	0.000000	D	0.96855	0.8973	M	0.82323	2.585	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.996;0.991;0.998	D	0.96729	0.9538	10	0.51188	T	0.08	-15.5078	18.4744	0.90786	0.0:1.0:0.0:0.0	.	840;905;906	Q13635-3;Q13635-2;Q13635	.;.;PTC1_HUMAN	H	906;840;755;755;342;840;755;905	ENSP00000332353:R906H;ENSP00000389744:R840H;ENSP00000399981:R755H;ENSP00000396135:R755H;ENSP00000410287:R840H;ENSP00000414823:R755H;ENSP00000364423:R905H	ENSP00000332353:R906H	R	-	2	0	PTCH1	97261873	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.320000	0.79064	2.600000	0.87896	0.563000	0.77884	CGT		0.537	PTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053229.2	NM_000264		4	31	0	0	0	1	0	4	31					T	98222052	C	T	98222052	3	4	361	1	0	0	0	0	1	0	0	0	12730	536	19	1	1654	1	PTCH1	9	98222052	Missense_Mutation	SNP	C	TCGA-QU-A6IN-01A-11D-A31L-08	91717376	98222052	42991379	17	18069											
PTCHD3	374308	broad.mit.edu	37	chr10	27688043	27688043	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ataaggccaggatgttagtgAtggtggtgattgtaatagac	12	12	14	3	0	0	3	0	2	0	1	0	4	0	4	1	4	0	2	1	4	4	5			TCGA-QU-A6IN-01A-11D-A31L-08	TCGA-QU-A6IN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8799b1d-3e1e-4d2a-ac5c-63509cd01c8b	9a41f5ef-4649-44de-883f-c7c0c4ee5de4	g.chr10:27688043A>G	ENST00000438700.3	-	4	1601	c.1484T>C	c.(1483-1485)aTc>aCc	p.I495T		NM_001034842.3	NP_001030014.2	Q3KNS1	PTHD3_HUMAN	patched domain containing 3	495	SSD. {ECO:0000255|PROSITE- ProRule:PRU00199}.				spermatid development (GO:0007286)	integral component of membrane (GO:0016021)|sperm midpiece (GO:0097225)	hedgehog receptor activity (GO:0008158)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	55						GATGTTAGTGATGGTGGTGAT	0.403																																						ENST00000438700.3																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	55						c.(1483-1485)aTc>aCc		patched domain containing 3							101	89	93					10																	27688043		2203	4300	6503	SO:0001583	missense	374308				spermatid development	integral to membrane	hedgehog receptor activity	g.chr10:27688043A>G	AK126025	CCDS31173.1	10p12.1	2006-05-26			ENSG00000182077	ENSG00000182077			24776	protein-coding gene	gene with protein product		611791					Standard	NM_001034842		Approved	FLJ44037, PTR	uc001itu.2	Q3KNS1	OTTHUMG00000017860	ENST00000438700.3:c.1484T>C	10.37:g.27688043A>G	ENSP00000417658:p.Ile495Thr						p.I495T	NM_001034842.3	NP_001030014.2	Q3KNS1	PTHD3_HUMAN			4	1601	-			495			SSD.		I3L499|Q6ZU28	Missense_Mutation	SNP	ENST00000438700.3	37	c.1484T>C	CCDS31173.1	.	.	.	.	.	.	.	.	.	.	A	7.222	0.597578	0.13875	.	.	ENSG00000182077	ENST00000438700	D	0.92299	-3.01	4.01	2.87	0.33458	Sterol-sensing domain (1);	0.818375	0.11074	N	0.602559	D	0.87422	0.6173	L	0.33245	0.995	0.29596	N	0.848089	B	0.32302	0.363	B	0.35353	0.201	T	0.80612	-0.1305	10	0.46703	T	0.11	-3.3291	8.9644	0.35867	0.9086:0.0:0.0914:0.0	.	495	Q3KNS1	PTHD3_HUMAN	T	495	ENSP00000417658:I495T	ENSP00000417658:I495T	I	-	2	0	PTCHD3	27728049	0.997000	0.39634	0.249000	0.24280	0.219000	0.24729	4.526000	0.60566	0.590000	0.29694	0.397000	0.26171	ATC		0.403	PTCHD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047325.3	XM_370541		30	42	0	0	0	1	0	30	42					G	27688043	A	G	27688043	3	3	361	1	0	0	0	0	1	0	0	0	12734	333	12	4	823	4	PTCHD3	10	27688043	Missense_Mutation	SNP	A	TCGA-QU-A6IN-01A-11D-A31L-08		27688043	107846704	18	18070											
ZNF408	79797	broad.mit.edu	37	chr11	46726592	46726592	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agtgtggcaaggcctttgccCgccggccctccctgcggctg	3	8	14	16	3	0	0	0	0	0	0	1	0	1	0	5	4	2	2	5	4	1	1			TCGA-QU-A6IN-01A-11D-A31L-08	TCGA-QU-A6IN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8799b1d-3e1e-4d2a-ac5c-63509cd01c8b	9a41f5ef-4649-44de-883f-c7c0c4ee5de4	g.chr11:46726592C>T	ENST00000311764.2	+	5	1572	c.1342C>T	c.(1342-1344)Cgc>Tgc	p.R448C		NM_001184751.1|NM_024741.2	NP_001171680.1|NP_079017.1	Q9H9D4	ZN408_HUMAN	zinc finger protein 408	448					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						GGCCTTTGCCCGCCGGCCCTC	0.672																																					Pancreas(79;698 1390 6545 18745 34127)|Esophageal Squamous(120;1014 1625 12837 24601 49525)	ENST00000311764.2																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(1342-1344)Cgc>Tgc		zinc finger protein 408							43	43	43					11																	46726592		2201	4299	6500	SO:0001583	missense	79797				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|identical protein binding|zinc ion binding	g.chr11:46726592C>T	AF346626	CCDS7923.1	11p11.2	2008-02-05			ENSG00000175213	ENSG00000175213		"Zinc fingers, C2H2-type"	20041	protein-coding gene	gene with protein product						15231747	Standard	NM_024741		Approved	FLJ12827	uc010rgw.2	Q9H9D4	OTTHUMG00000166568	ENST00000311764.2:c.1342C>T	11.37:g.46726592C>T	ENSP00000309606:p.Arg448Cys						p.R448C	NM_001184751.1|NM_024741.2	NP_001171680.1|NP_079017.1	Q9H9D4	ZN408_HUMAN			5	1572	+			448						Missense_Mutation	SNP	ENST00000311764.2	37	c.1342C>T	CCDS7923.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.317289	0.81469	.	.	ENSG00000175213	ENST00000311764	T	0.12672	2.66	5.68	4.76	0.60689	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.45361	D	0.000373	T	0.13415	0.0325	L	0.31526	0.94	0.58432	D	0.999997	D;D	0.63880	0.993;0.993	P;P	0.46208	0.507;0.507	T	0.00722	-1.1594	10	0.48119	T	0.1	-41.1076	12.7089	0.57078	0.0:0.8702:0.0:0.1298	.	440;448	B4DXY4;Q9H9D4	.;ZN408_HUMAN	C	448	ENSP00000309606:R448C	ENSP00000309606:R448C	R	+	1	0	ZNF408	46683168	0.970000	0.33590	1.000000	0.80357	0.965000	0.64279	2.363000	0.44178	2.838000	0.97847	0.563000	0.77884	CGC		0.672	ZNF408-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390485.2	NM_024741		9	80	0	0	0	1	0	9	80					T	46726592	C	T	46726592	3	4	361	1	0	0	0	0	1	0	0	0	17885	652	23	2	1392	2	ZNF408	11	46726592	Missense_Mutation	SNP	C	TCGA-QU-A6IN-01A-11D-A31L-08		46726592	88279924	19	18071											
CELF1	10658	broad.mit.edu	37	chr11	47493882	47493882	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	actggatggcagcttgggccGaaacaggattgtcgtaactt	10	10	13	8	2	0	0	0	0	0	0	1	3	0	2	1	4	3	3	1	4	2	4			TCGA-QU-A6IN-01A-11D-A31L-08	TCGA-QU-A6IN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8799b1d-3e1e-4d2a-ac5c-63509cd01c8b	9a41f5ef-4649-44de-883f-c7c0c4ee5de4	g.chr11:47493882G>A	ENST00000358597.3	-	12	1360	c.1361C>T	c.(1360-1362)tCg>tTg	p.S454L	CELF1_ENST00000310513.5_Missense_Mutation_p.S450L|CELF1_ENST00000361904.3_Missense_Mutation_p.S451L|CELF1_ENST00000395292.2_Missense_Mutation_p.S451L|CELF1_ENST00000532048.1_Missense_Mutation_p.S480L|CELF1_ENST00000539455.1_5'UTR|CELF1_ENST00000531165.1_Missense_Mutation_p.S482L|CELF1_ENST00000395290.2_Missense_Mutation_p.S453L			Q92879	CELF1_HUMAN	CUGBP, Elav-like family member 1	454	RRM 3. {ECO:0000255|PROSITE- ProRule:PRU00176}.				embryo development (GO:0009790)|germ cell development (GO:0007281)|mRNA processing (GO:0006397)|mRNA splice site selection (GO:0006376)|negative regulation of translation (GO:0017148)|positive regulation of multicellular organism growth (GO:0040018)|regulation of RNA splicing (GO:0043484)|RNA interference (GO:0016246)|spermatid development (GO:0007286)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	BRE binding (GO:0042835)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|translation repressor activity, nucleic acid binding (GO:0000900)			central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|ovary(2)	18						AGCTTGGGCCGAAACAGGATT	0.483																																					Pancreas(163;1949 1966 9906 43218 43785)	ENST00000395290.2																			0				central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|ovary(2)	18						c.(1357-1359)tCg>tTg		CUGBP, Elav-like family member 1							181	149	160					11																	47493882		2201	4298	6499	SO:0001583	missense	10658				embryo development|mRNA splice site selection|regulation of RNA splicing|RNA interference	cytoplasm|nucleus|ribonucleoprotein complex	BRE binding|mRNA binding|nucleotide binding|translation repressor activity, nucleic acid binding	g.chr11:47493882G>A	U63289	CCDS7938.1, CCDS7939.1, CCDS31482.1, CCDS53622.1, CCDS53623.1	11p11	2013-02-12	2010-02-19	2010-02-19				"RNA binding motif (RRM) containing"	2549	protein-coding gene	gene with protein product	"CUG RNA-binding protein", "nuclear polyadenylated RNA-binding protein, 50-kD", "bruno-like 2", "embryo deadenylation element binding protein"	601074	"CUG triplet repeat, RNA-binding protein 1", "CUG triplet repeat, RNA binding protein 1"	CUGBP1		8948631, 9371827	Standard	NM_006560		Approved	CUG-BP, hNab50, BRUNOL2, NAB50, CUGBP, NAPOR, EDEN-BP	uc001nfl.3	Q92879		ENST00000358597.3:c.1361C>T	11.37:g.47493882G>A	ENSP00000351409:p.Ser454Leu					CELF1_ENST00000361904.3_Missense_Mutation_p.S451L|CELF1_ENST00000531165.1_Missense_Mutation_p.S482L|CELF1_ENST00000358597.3_Missense_Mutation_p.S454L|CELF1_ENST00000532048.1_Missense_Mutation_p.S480L|CELF1_ENST00000539455.1_5'UTR|CELF1_ENST00000395292.2_Missense_Mutation_p.S451L|CELF1_ENST00000310513.5_Missense_Mutation_p.S450L	p.S453L	NM_001025596.2|NM_001172640.1	NP_001020767.1|NP_001166111.1	Q92879	CELF1_HUMAN			12	1367	-			454			RRM 3.		B4E2U5|D3DQS0|F8W940|Q4LE52|Q9NP83|Q9NR06	Missense_Mutation	SNP	ENST00000358597.3	37	c.1358C>T	CCDS31482.1	.	.	.	.	.	.	.	.	.	.	G	33	5.258683	0.95368	.	.	ENSG00000149187	ENST00000395290;ENST00000358597;ENST00000395292;ENST00000310513;ENST00000361904;ENST00000531165;ENST00000532048	T;T;T;T;T;T;T	0.18502	2.21;2.21;2.21;2.21;2.21;2.21;2.21	5.83	5.83	0.93111	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.123776	0.56097	D	0.000028	T	0.51941	0.1704	M	0.89095	3.005	0.80722	D	1	P;P;D;D;P;D	0.89917	0.818;0.818;0.998;1.0;0.818;0.996	B;B;D;D;B;D	0.79108	0.17;0.17;0.968;0.992;0.17;0.981	T	0.58346	-0.7652	10	0.87932	D	0	-5.7382	20.1208	0.97960	0.0:0.0:1.0:0.0	.	453;482;480;450;451;454	F8W940;G5EA30;Q92879-4;Q92879-2;Q92879-3;Q92879	.;.;.;.;.;CELF1_HUMAN	L	453;454;451;450;451;482;480	ENSP00000378705:S453L;ENSP00000351409:S454L;ENSP00000378706:S451L;ENSP00000308386:S450L;ENSP00000354639:S451L;ENSP00000436864:S482L;ENSP00000435926:S480L	ENSP00000308386:S450L	S	-	2	0	CELF1	47450458	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	8.009000	0.88606	2.758000	0.94735	0.655000	0.94253	TCG		0.483	CELF1-024	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000398352.1	NM_006560		4	145	0	0	0	1	0	4	145					A	47493882	G	A	47493882	3	1	361	1	0	0	0	0	1	0	0	0	3215	1059	37	2	103	2	CELF1	11	47493882	Missense_Mutation	SNP	G	TCGA-QU-A6IN-01A-11D-A31L-08	767290	47493882	87512634	20	18072											
PRPF19	27339	broad.mit.edu	37	chr11	60658695	60658695	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttgaagcgatgaacttggcGtgatgcccgaaggccacccc	9	7	13	12	3	0	3	0	3	0	0	0	5	0	3	4	2	3	1	4	2	3	2			TCGA-QU-A6IN-01A-11D-A31L-08	TCGA-QU-A6IN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8799b1d-3e1e-4d2a-ac5c-63509cd01c8b	9a41f5ef-4649-44de-883f-c7c0c4ee5de4	g.chr11:60658695G>A	ENST00000227524.4	-	16	1663	c.1458C>T	c.(1456-1458)caC>caT	p.H486H		NM_014502.4	NP_055317.1			pre-mRNA processing factor 19									p.H486H(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|urinary_tract(1)	22						TGAACTTGGCGTGATGCCCGA	0.542																																						ENST00000227524.4																			1	Substitution - coding silent(1)	p.H486H(1)	kidney(1)	haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|urinary_tract(1)	22						c.(1456-1458)caC>caT		pre-mRNA processing factor 19							82	69	73					11																	60658695		2203	4299	6502	SO:0001819	synonymous_variant	27339				DNA repair|protein polyubiquitination|spliceosome assembly	catalytic step 2 spliceosome|nuclear speck|spindle|ubiquitin ligase complex	DNA binding|identical protein binding|ubiquitin-ubiquitin ligase activity	g.chr11:60658695G>A	BC018698	CCDS7995.1	11q12.2	2014-05-20	2013-06-10	2005-04-01	ENSG00000110107	ENSG00000110107		"WD repeat domain containing", "U-box domain containing"	17896	protein-coding gene	gene with protein product	"nuclear matrix protein NMP200 related to splicing factor PRP19", "psoralen 4"	608330	"PRP19/PSO4 homolog (S. cerevisiae)", "PRP19/PSO4 pre-mRNA processing factor 19 homolog (S. cerevisiae)"	PRP19		12960389	Standard	NM_014502		Approved	UBOX4, NMP200, PSO4, hPSO4	uc001nqf.3	Q9UMS4	OTTHUMG00000167798	ENST00000227524.4:c.1458C>T	11.37:g.60658695G>A							p.H486H	NM_014502.4	NP_055317.1	Q9UMS4	PRP19_HUMAN			16	1663	-			486						Silent	SNP	ENST00000227524.4	37	c.1458C>T	CCDS7995.1																																																																																				0.542	PRPF19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396334.1	NM_014502		13	20	0	0	0	1	0	13	20					A	60658695	G	A	60658695	2	1	361	1	0	0	0	0	0	0	0	1	12564	1136	40	1		1	PRPF19	11	60658695	Silent	SNP	G	TCGA-QU-A6IN-01A-11D-A31L-08	13164813	60658695	74347821	21	18073											
PRICKLE1	144165	broad.mit.edu	37	chr12	42860182	42860182	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcactcatcagcaaaaattaTcttcaaaaagaaatgtgaaa	20	9	5	7	0	4	2	3	1	1	1	4	2	4	2	0	0	1	2	0	0	7	2			TCGA-QU-A6IN-01A-11D-A31L-08	TCGA-QU-A6IN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8799b1d-3e1e-4d2a-ac5c-63509cd01c8b	9a41f5ef-4649-44de-883f-c7c0c4ee5de4	g.chr12:42860182T>C	ENST00000455697.1	-	6	874	c.589A>G	c.(589-591)Ata>Gta	p.I197V	PRICKLE1_ENST00000548696.1_Splice_Site_p.I197V|PRICKLE1_ENST00000345127.3_Splice_Site_p.I197V|PRICKLE1_ENST00000552240.1_Splice_Site_p.I197V|PRICKLE1_ENST00000445766.2_Splice_Site_p.I197V|RP11-328C8.4_ENST00000547824.1_RNA	NM_001144882.1|NM_001144883.1	NP_001138354.1|NP_001138355.1	Q96MT3	PRIC1_HUMAN	prickle homolog 1 (Drosophila)	197	LIM zinc-binding 2. {ECO:0000255|PROSITE- ProRule:PRU00125}.				negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cardiac muscle cell myoblast differentiation (GO:2000691)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein ubiquitination (GO:0031398)|protein import into nucleus (GO:0006606)	cytosol (GO:0005829)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(13)|ovary(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	47	all_cancers(12;4.25e-05)|Breast(8;0.176)			GBM - Glioblastoma multiforme(48;0.2)		GCAAAAATTATCTTCAAAAAG	0.433																																						ENST00000455697.1																			0				NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(13)|ovary(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	47						c.e6-1		prickle homolog 1 (Drosophila)							55	53	54					12																	42860182		2203	4300	6503	SO:0001630	splice_region_variant	0				negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cardiac muscle cell myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein import into nucleus	cytosol|nuclear membrane	zinc ion binding	g.chr12:42860182T>C	AK056499	CCDS8742.1	12p11-q12	2010-08-13	2006-09-12			ENSG00000139174			17019	protein-coding gene	gene with protein product		608500	"prickle-like 1 (Drosophila)"			12525887, 18976727	Standard	NM_153026		Approved	FLJ31937, EPM1B	uc010skv.2	Q96MT3		ENST00000455697.1:c.589-1A>G	12.37:g.42860182T>C						PRICKLE1_ENST00000345127.3_Splice_Site_p.I197_splice|PRICKLE1_ENST00000548696.1_Splice_Site_p.I197_splice|PRICKLE1_ENST00000552240.1_Splice_Site_p.I197_splice|PRICKLE1_ENST00000445766.2_Splice_Site_p.I197_splice	p.I197_splice	NM_001144882.1|NM_001144883.1	NP_001138354.1|NP_001138355.1	Q96MT3	PRIC1_HUMAN		GBM - Glioblastoma multiforme(48;0.2)	6	874	-	all_cancers(12;4.25e-05)|Breast(8;0.176)		197			LIM zinc-binding 2.		Q14C83|Q71QF8|Q96N00	Splice_Site	SNP	ENST00000455697.1	37	c.588_splice	CCDS8742.1	.	.	.	.	.	.	.	.	.	.	T	22.0	4.227723	0.79576	.	.	ENSG00000139174	ENST00000455697;ENST00000445766;ENST00000548696;ENST00000345127;ENST00000552240	D;D;D;D;D	0.86497	-2.13;-2.13;-2.13;-2.13;-2.13	5.18	5.18	0.71444	Zinc finger, LIM-type (5);	0.041340	0.85682	D	0.000000	D	0.88665	0.6498	L	0.35593	1.075	0.80722	D	1	P	0.46578	0.88	P	0.58266	0.836	D	0.89543	0.3794	10	0.56958	D	0.05	-12.0798	15.3353	0.74247	0.0:0.0:0.0:1.0	.	197	Q96MT3	PRIC1_HUMAN	V	197	ENSP00000401060:I197V;ENSP00000398947:I197V;ENSP00000448359:I197V;ENSP00000345064:I197V;ENSP00000449819:I197V	ENSP00000345064:I197V	I	-	1	0	PRICKLE1	41146449	1.000000	0.71417	0.999000	0.59377	0.889000	0.51656	7.997000	0.88414	2.094000	0.63399	0.459000	0.35465	ATA		0.433	PRICKLE1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404069.1		Missense_Mutation	19	21	0	0	0	1	0	19	21					C	42860182	T	C	42860182	5	2	361	1	0	0	0	0	0	0	1	0	12486	1449	50	4	1918	4	PRICKLE1	12	42860182	Splice_Site	SNP	T	TCGA-QU-A6IN-01A-11D-A31L-08		42860182	90991713	22	18074											
FOXA1	3169	broad.mit.edu	37	chr14	38061208	38061208	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cttgaagcgcttctggcggcGcaagtagcagccgttctcga	7	9	13	12	5	2	1	0	1	2	0	3	2	2	1	1	2	3	5	1	2	3	4			TCGA-QU-A6IN-01A-11D-A31L-08	TCGA-QU-A6IN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8799b1d-3e1e-4d2a-ac5c-63509cd01c8b	9a41f5ef-4649-44de-883f-c7c0c4ee5de4	g.chr14:38061208G>A	ENST00000250448.2	-	2	842	c.781C>T	c.(781-783)Cgc>Tgc	p.R261C	FOXA1_ENST00000540786.1_Missense_Mutation_p.R228C|FOXA1_ENST00000545425.2_5'UTR	NM_004496.3	NP_004487.2	P55317	FOXA1_HUMAN	forkhead box A1	261					anatomical structure formation involved in morphogenesis (GO:0048646)|chromatin remodeling (GO:0006338)|dorsal/ventral neural tube patterning (GO:0021904)|epithelial cell maturation involved in prostate gland development (GO:0060743)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|epithelial-mesenchymal signaling involved in prostate gland development (GO:0060738)|glucose homeostasis (GO:0042593)|hormone metabolic process (GO:0042445)|lung epithelial cell differentiation (GO:0060487)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron fate specification (GO:0048665)|positive regulation of cell-cell adhesion mediated by cadherin (GO:2000049)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prostate gland epithelium morphogenesis (GO:0060740)|prostate gland stromal morphogenesis (GO:0060741)|response to estradiol (GO:0032355)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)	microvillus (GO:0005902)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|endometrium(1)|large_intestine(2)|lung(3)|prostate(12)	19	Breast(36;0.0954)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		Lung(238;5.41e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0454)|LUSC - Lung squamous cell carcinoma(13;0.0917)|all cancers(34;0.0925)|BRCA - Breast invasive adenocarcinoma(188;0.239)	GBM - Glioblastoma multiforme(112;0.0222)		TTCTGGCGGCGCAAGTAGCAG	0.716																																						ENST00000250448.2																			0				breast(1)|endometrium(1)|large_intestine(2)|lung(3)|prostate(12)	19						c.(781-783)Cgc>Tgc		forkhead box A1							15	16	15					14																	38061208		2202	4298	6500	SO:0001583	missense	3169				chromatin remodeling|embryo development|epithelial cell maturation involved in prostate gland development|epithelial tube branching involved in lung morphogenesis|epithelial-mesenchymal signaling involved in prostate gland development|glucose homeostasis|lung epithelial cell differentiation|negative regulation of survival gene product expression|neuron fate specification|pattern specification process|positive regulation of estrogen receptor signaling pathway|positive regulation of mitotic cell cycle|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|prostate gland epithelium morphogenesis|prostate gland stromal morphogenesis|response to estradiol stimulus|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development	transcription factor complex	DNA bending activity|double-stranded DNA binding|protein domain specific binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding	g.chr14:38061208G>A	U39840	CCDS9665.1	14q12-q13	2008-04-10		2002-09-20	ENSG00000129514	ENSG00000129514		"Forkhead boxes"	5021	protein-coding gene	gene with protein product		602294	"hepatocyte nuclear factor 3, alpha"	HNF3A		9119385, 8652662	Standard	NM_004496		Approved		uc001wuf.4	P55317	OTTHUMG00000140253	ENST00000250448.2:c.781C>T	14.37:g.38061208G>A	ENSP00000250448:p.Arg261Cys					FOXA1_ENST00000540786.1_Missense_Mutation_p.R228C|FOXA1_ENST00000545425.2_5'UTR	p.R261C	NM_004496.3	NP_004487.2	P55317	FOXA1_HUMAN	Lung(238;5.41e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0454)|LUSC - Lung squamous cell carcinoma(13;0.0917)|all cancers(34;0.0925)|BRCA - Breast invasive adenocarcinoma(188;0.239)	GBM - Glioblastoma multiforme(112;0.0222)	2	842	-	Breast(36;0.0954)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		261					B2R9H6|B7ZAP5|Q9H2A0	Missense_Mutation	SNP	ENST00000250448.2	37	c.781C>T	CCDS9665.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.298098	0.81025	.	.	ENSG00000129514	ENST00000250448;ENST00000540786	D;D	0.96136	-3.92;-3.92	3.92	3.02	0.34903	Winged helix-turn-helix transcription repressor DNA-binding (1);Transcription factor, fork head (2);	0.064498	0.64402	N	0.000006	D	0.98229	0.9414	H	0.96943	3.91	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97978	1.0347	10	0.87932	D	0	.	10.2805	0.43537	0.1014:0.0:0.8986:0.0	.	261	P55317	FOXA1_HUMAN	C	261;228	ENSP00000250448:R261C;ENSP00000440178:R228C	ENSP00000250448:R261C	R	-	1	0	FOXA1	37130959	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	6.341000	0.72977	0.867000	0.35654	0.400000	0.26472	CGC		0.716	FOXA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276735.1			7	10	0	0	0	1	0	7	10					A	38061208	G	A	38061208	3	1	361	1	0	0	0	0	1	0	0	0	5989	1087	38	1	641	1	FOXA1	14	38061208	Missense_Mutation	SNP	G	TCGA-QU-A6IN-01A-11D-A31L-08		38061208	69288332	23	18075											
USP8	9101	broad.mit.edu	37	chr15	50788105	50788105	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atctcgatgactttaaagctGcagaacatgcctggcagaaa	14	9	9	9	1	1	3	0	1	1	2	2	4	1	3	1	1	4	3	1	1	4	2			TCGA-QU-A6IN-01A-11D-A31L-08	TCGA-QU-A6IN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8799b1d-3e1e-4d2a-ac5c-63509cd01c8b	9a41f5ef-4649-44de-883f-c7c0c4ee5de4	g.chr15:50788105G>T	ENST00000396444.3	+	17	3057	c.2719G>T	c.(2719-2721)Gca>Tca	p.A907S	USP8_ENST00000433963.1_Missense_Mutation_p.A907S|USP8_ENST00000307179.4_Missense_Mutation_p.A907S|RP11-562A8.4_ENST00000560380.1_RNA|USP8_ENST00000425032.3_Missense_Mutation_p.A801S|RP11-562A8.5_ENST00000560159.1_lincRNA	NM_001128610.1|NM_005154.3	NP_001122082.1|NP_005145.3	P40818	UBP8_HUMAN	ubiquitin specific peptidase 8	907	USP.				cell proliferation (GO:0008283)|endosome organization (GO:0007032)|mitotic cytokinesis (GO:0000281)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|Ras protein signal transduction (GO:0007265)|ubiquitin-dependent protein catabolic process (GO:0006511)	acrosomal vesicle (GO:0001669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|extrinsic component of plasma membrane (GO:0019897)|midbody (GO:0030496)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|ubiquitin-specific protease activity (GO:0004843)			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35				all cancers(107;0.000225)|GBM - Glioblastoma multiforme(94;0.000771)		CTTTAAAGCTGCAGAACATGC	0.353																																						ENST00000433963.1																			0				central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						c.(2719-2721)Gca>Tca		ubiquitin specific peptidase 8							47	42	43					15																	50788105		2196	4289	6485	SO:0001583	missense	9101				cell cycle|cell proliferation|endosome organization|protein K48-linked deubiquitination|protein K63-linked deubiquitination|ubiquitin-dependent protein catabolic process	cytosol|early endosome|extrinsic to plasma membrane|nucleus	cysteine-type endopeptidase activity|SH3 domain binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr15:50788105G>T	D29956	CCDS10137.1, CCDS61632.1	15q21.1	2014-03-03	2005-08-08		ENSG00000138592	ENSG00000138592		"Ubiquitin-specific peptidases"	12631	protein-coding gene	gene with protein product		603158	"ubiquitin specific protease 8"			12838346, 9582025, 24482476	Standard	NM_005154		Approved	HumORF8, KIAA0055, UBPY, SPG59	uc001zyl.4	P40818	OTTHUMG00000131645	ENST00000396444.3:c.2719G>T	15.37:g.50788105G>T	ENSP00000379721:p.Ala907Ser					RP11-562A8.5_ENST00000560159.1_lincRNA|USP8_ENST00000396444.3_Missense_Mutation_p.A907S|USP8_ENST00000425032.3_Missense_Mutation_p.A801S|USP8_ENST00000307179.4_Missense_Mutation_p.A907S	p.A907S	NM_001128611.1	NP_001122083.1	P40818	UBP8_HUMAN		all cancers(107;0.000225)|GBM - Glioblastoma multiforme(94;0.000771)	18	3219	+			907					B4DKA8|Q2TB31|Q7Z3U2|Q86VA0|Q8IWI7	Missense_Mutation	SNP	ENST00000396444.3	37	c.2719G>T	CCDS10137.1	.	.	.	.	.	.	.	.	.	.	G	23.9	4.467442	0.84533	.	.	ENSG00000138592	ENST00000396444;ENST00000433963;ENST00000307179;ENST00000425032;ENST00000419830;ENST00000396440	T;T;T;T	0.30448	1.53;1.53;1.53;1.53	5.23	5.23	0.72850	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.143368	0.64402	D	0.000007	T	0.40473	0.1118	L	0.59967	1.855	0.80722	D	1	B;P	0.38195	0.353;0.622	P;P	0.48454	0.578;0.578	T	0.14008	-1.0488	10	0.05351	T	0.99	-20.013	19.1621	0.93537	0.0:0.0:1.0:0.0	.	801;907	B4DKA8;P40818	.;UBP8_HUMAN	S	907;907;907;801;125;120	ENSP00000379721:A907S;ENSP00000405537:A907S;ENSP00000302239:A907S;ENSP00000412682:A801S	ENSP00000302239:A907S	A	+	1	0	USP8	48575397	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.203000	0.72137	2.597000	0.87782	0.650000	0.86243	GCA		0.353	USP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254541.1	NM_005154		17	19	1	0	1.02788e-11	1	1.12578e-11	17	19					T	50788105	G	T	50788105	3	4	361	1	0	0	0	0	1	0	0	0	17086	1319	46	5	2781	5	USP8	15	50788105	Missense_Mutation	SNP	G	TCGA-QU-A6IN-01A-11D-A31L-08		50788105	51743287	24	18076											
THSD4	79875	broad.mit.edu	37	chr15	71952952	71952952	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggagacaacacgggctgtcaGgttgtgtcgggcgtgtttaa	8	10	16	7	3	1	1	1	0	0	1	2	2	1	1	0	4	1	3	0	4	2	3			TCGA-QU-A6IN-01A-11D-A31L-08	TCGA-QU-A6IN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8799b1d-3e1e-4d2a-ac5c-63509cd01c8b	9a41f5ef-4649-44de-883f-c7c0c4ee5de4	g.chr15:71952952G>T	ENST00000355327.3	+	8	1370	c.1236G>T	c.(1234-1236)caG>caT	p.Q412H	THSD4_ENST00000261862.6_Missense_Mutation_p.Q412H|THSD4_ENST00000567838.1_3'UTR|THSD4_ENST00000357769.4_Missense_Mutation_p.Q52H			Q6ZMP0	THSD4_HUMAN	thrombospondin, type I, domain containing 4	412					elastic fiber assembly (GO:0048251)	extracellular vesicular exosome (GO:0070062)|microfibril (GO:0001527)	metalloendopeptidase activity (GO:0004222)			breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						CGGGCTGTCAGGTTGTGTCGG	0.542																																						ENST00000355327.3																			0				breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						c.(1234-1236)caG>caT		thrombospondin, type I, domain containing 4							146	153	151					15																	71952952		1990	4170	6160	SO:0001583	missense	79875					proteinaceous extracellular matrix	metalloendopeptidase activity	g.chr15:71952952G>T	AK023772	CCDS10238.2, CCDS66817.1	15q23	2009-11-09			ENSG00000187720	ENSG00000187720			25835	protein-coding gene	gene with protein product		614476				19734141	Standard	NM_001286429		Approved	FVSY9334, PRO34005, FLJ13710, ADAMTSL6	uc002atb.1	Q6ZMP0	OTTHUMG00000133389	ENST00000355327.3:c.1236G>T	15.37:g.71952952G>T	ENSP00000347484:p.Gln412His					THSD4_ENST00000567838.1_3'UTR|THSD4_ENST00000357769.4_Missense_Mutation_p.Q52H|THSD4_ENST00000261862.6_Missense_Mutation_p.Q412H	p.Q412H			Q6ZMP0	THSD4_HUMAN			8	1370	+			412					B2RTY3|B4DR13|Q6MZI3|Q6UXZ8|Q9H8E4	Missense_Mutation	SNP	ENST00000355327.3	37	c.1236G>T	CCDS10238.2	.	.	.	.	.	.	.	.	.	.	G	17.49	3.402946	0.62288	.	.	ENSG00000187720	ENST00000355327;ENST00000261862;ENST00000357769;ENST00000345002	T;T;T	0.68025	-0.3;-0.3;0.35	4.77	2.85	0.33270	.	0.238830	0.26598	N	0.023483	T	0.57301	0.2044	N	0.10837	0.055	0.30339	N	0.785886	D;P;D;D	0.62365	0.991;0.927;0.989;0.975	P;P;P;P	0.59115	0.852;0.601;0.769;0.686	T	0.56733	-0.7930	10	0.51188	T	0.08	.	7.2045	0.25899	0.286:0.0:0.714:0.0	.	52;52;412;412	B4E1J6;B4DR13;Q6ZMP0-2;Q6ZMP0	.;.;.;THSD4_HUMAN	H	412;412;52;52	ENSP00000347484:Q412H;ENSP00000261862:Q412H;ENSP00000350413:Q52H	ENSP00000261862:Q412H	Q	+	3	2	THSD4	69740006	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	1.393000	0.34497	1.146000	0.42352	-0.136000	0.14681	CAG		0.542	THSD4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257253.2	NM_024817		46	104	1	0	2.24722e-20	1	2.52127e-20	46	104					T	71952952	G	T	71952952	3	4	361	1	0	0	0	0	1	0	0	0	15875	991	35	5	1262	5	THSD4	15	71952952	Missense_Mutation	SNP	G	TCGA-QU-A6IN-01A-11D-A31L-08	21164847	71952952	30578440	25	18077											
SLC5A10	125206	broad.mit.edu	37	chr17	18923109	18923109	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctgaacccagccccaccgtgCggagagccagacacgcggcc	9	2	12	18	4	0	3	0	1	0	2	0	4	0	3	6	2	4	0	6	2	1	0			TCGA-QU-A6IN-01A-11D-A31L-08	TCGA-QU-A6IN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8799b1d-3e1e-4d2a-ac5c-63509cd01c8b	9a41f5ef-4649-44de-883f-c7c0c4ee5de4	g.chr17:18923109C>T	ENST00000395645.3	+	13	1512	c.1494C>T	c.(1492-1494)tgC>tgT	p.C498C	SLC5A10_ENST00000395642.1_Silent_p.C468C|SLC5A10_ENST00000317977.6_Silent_p.C468C|SLC5A10_ENST00000395647.2_Silent_p.C514C|SLC5A10_ENST00000417251.2_Silent_p.C462C|SLC5A10_ENST00000395643.2_Silent_p.C471C	NM_001042450.2	NP_001035915.1	A0PJK1	SC5AA_HUMAN	solute carrier family 5 (sodium/sugar cotransporter), member 10	498					sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(3)|ovary(3)|prostate(3)|skin(3)	24						CCCCACCGTGCGGAGAGCCAG	0.667																																						ENST00000317977.6																			0				central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(3)|ovary(3)|prostate(3)|skin(3)	24						c.(1402-1404)tgC>tgT		solute carrier family 5 (sodium/sugar cotransporter), member 10							37	38	38					17																	18923109		2203	4299	6502	SO:0001819	synonymous_variant	125206				sodium ion transport|transmembrane transport	integral to membrane	transporter activity	g.chr17:18923109C>T		CCDS11201.2, CCDS42275.1, CCDS59277.1, CCDS59278.1, CCDS74008.1	17p11.2	2013-07-19	2013-07-19		ENSG00000154025	ENSG00000154025		"Solute carriers"	23155	protein-coding gene	gene with protein product			"solute carrier family 5 (sodium/glucose cotransporter), member 10"				Standard	NM_152351		Approved	SGLT5	uc002gut.2	A0PJK1	OTTHUMG00000178143	ENST00000395645.3:c.1494C>T	17.37:g.18923109C>T						SLC5A10_ENST00000395642.1_Silent_p.C468C|SLC5A10_ENST00000417251.2_Silent_p.C462C|SLC5A10_ENST00000395647.2_Silent_p.C514C|SLC5A10_ENST00000395645.3_Silent_p.C498C|SLC5A10_ENST00000395643.2_Silent_p.C471C	p.C468C			A0PJK1	SC5AA_HUMAN			13	1975	+			498					A8MUC9|B4DPI0|B7WPR4|Q6P5X0|Q8IXM4|Q96LQ1	Silent	SNP	ENST00000395645.3	37	c.1404C>T	CCDS42275.1																																																																																				0.667	SLC5A10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132129.2	NM_152351		9	7	0	0	0	1	0	9	7					T	18923109	C	T	18923109	2	4	361	1	0	0	0	0	0	0	0	1	14662	776	27	1		1	SLC5A10	17	18923109	Silent	SNP	C	TCGA-QU-A6IN-01A-11D-A31L-08		18923109	62272101	26	18078											
MED24	9862	broad.mit.edu	37	chr17	38182576	38182576	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accttccctttgatgttatcAgtgattttctaggggagacg	8	15	10	8	1	2	3	1	2	1	1	3	4	3	3	2	2	0	1	2	2	2	6			TCGA-QU-A6IN-01A-11D-A31L-08	TCGA-QU-A6IN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8799b1d-3e1e-4d2a-ac5c-63509cd01c8b	9a41f5ef-4649-44de-883f-c7c0c4ee5de4	g.chr17:38182576A>C	ENST00000394128.2	-	19	1899	c.1818T>G	c.(1816-1818)acT>acG	p.T606T	SNORD124_ENST00000459577.1_RNA|MED24_ENST00000394127.2_Silent_p.T593T|MED24_ENST00000501516.3_Silent_p.T625T|MED24_ENST00000356271.3_Silent_p.T593T|MED24_ENST00000394126.1_Silent_p.T631T	NM_014815.3	NP_055630.2	O75448	MED24_HUMAN	mediator complex subunit 24	606					androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of transcription, DNA-templated (GO:0045893)|protein heterooligomerization (GO:0051291)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	histone acetyltransferase activity (GO:0004402)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|receptor activity (GO:0004872)|RNA polymerase II transcription cofactor activity (GO:0001104)|thyroid hormone receptor binding (GO:0046966)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			autonomic_ganglia(1)|breast(2)|endometrium(9)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	41	Colorectal(19;0.000442)					TGATGTTATCAGTGATTTTCT	0.557																																						ENST00000394126.1																			0				autonomic_ganglia(1)|breast(2)|endometrium(9)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	41						c.(1891-1893)acT>acG		mediator complex subunit 24							149	133	138					17																	38182576		2203	4300	6503	SO:0001819	synonymous_variant	9862				androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	g.chr17:38182576A>C	AF055995	CCDS11359.1, CCDS42315.1	17q21.2	2007-07-30	2007-07-30	2007-07-30	ENSG00000008838	ENSG00000008838			22963	protein-coding gene	gene with protein product		607000	"thyroid hormone receptor associated protein 4", "cofactor required for Sp1 transcriptional activation, subunit 4, 100kDa"	THRAP4, CRSP4			Standard	NM_001079518		Approved	TRAP100, KIAA0130, DRIP100, CRSP100	uc002htt.3	O75448	OTTHUMG00000133329	ENST00000394128.2:c.1818T>G	17.37:g.38182576A>C						MED24_ENST00000394128.2_Silent_p.T606T|MED24_ENST00000394127.2_Silent_p.T593T|MED24_ENST00000356271.3_Silent_p.T593T|MED24_ENST00000501516.3_Silent_p.T625T	p.T631T			O75448	MED24_HUMAN			18	2311	-	Colorectal(19;0.000442)		606					A8K4S5|B3KMR9|Q14143|Q9NNY5	Silent	SNP	ENST00000394128.2	37	c.1893T>G	CCDS11359.1																																																																																				0.557	MED24-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257147.2	NM_014815		39	63	0	0	0	1	0	39	63					C	38182576	A	C	38182576	2	2	361	1	0	0	0	0	0	0	0	1	9442	175	7	5		5	MED24	17	38182576	Silent	SNP	A	TCGA-QU-A6IN-01A-11D-A31L-08	19259467	38182576	43012634	27	18079											
HDAC5	10014	broad.mit.edu	37	chr17	42169758	42169758	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagcccttacccccaggccCggcacctgtgatctcaacag	8	6	9	18	1	1	1	1	1	1	0	2	1	1	1	5	2	3	2	5	2	2	1	rs140895306		TCGA-QU-A6IN-01A-11D-A31L-08	TCGA-QU-A6IN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8799b1d-3e1e-4d2a-ac5c-63509cd01c8b	9a41f5ef-4649-44de-883f-c7c0c4ee5de4	g.chr17:42169758C>A	ENST00000393622.2	-	8	1241	c.910G>T	c.(910-912)Ggg>Tgg	p.G304W	HDAC5_ENST00000336057.5_Missense_Mutation_p.G304W|HDAC5_ENST00000586802.1_Missense_Mutation_p.G304W|HDAC5_ENST00000225983.6_Missense_Mutation_p.G305W	NM_001015053.1|NM_005474.4	NP_001015053.1|NP_005465.2	Q9UQL6	HDAC5_HUMAN	histone deacetylase 5	304					B cell activation (GO:0042113)|B cell differentiation (GO:0030183)|cellular response to insulin stimulus (GO:0032869)|chromatin modification (GO:0016568)|chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|chromatin silencing (GO:0006342)|heart development (GO:0007507)|histone deacetylation (GO:0016575)|inflammatory response (GO:0006954)|multicellular organismal response to stress (GO:0033555)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|osteoblast development (GO:0002076)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of gene expression, epigenetic (GO:0040029)|regulation of myotube differentiation (GO:0010830)|regulation of protein binding (GO:0043393)|regulation of skeletal muscle fiber development (GO:0048742)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|histone deacetylase complex (GO:0000118)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	core promoter binding (GO:0001047)|histone deacetylase activity (GO:0004407)|metal ion binding (GO:0046872)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|protein kinase C binding (GO:0005080)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(7)|ovary(1)|prostate(2)|skin(1)	21		Breast(137;0.00637)|Prostate(33;0.0313)		BRCA - Breast invasive adenocarcinoma(366;0.118)		CCCCCAGGCCCGGCACCTGTG	0.582																																						ENST00000225983.6																			0				central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(7)|ovary(1)|prostate(2)|skin(1)	21						c.(913-915)Ggg>Tgg		histone deacetylase 5							51	55	54					17																	42169758		2203	4300	6503	SO:0001583	missense	10014				B cell differentiation|cellular response to insulin stimulus|chromatin remodeling|chromatin silencing|inflammatory response|negative regulation of cell migration involved in sprouting angiogenesis|negative regulation of myotube differentiation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|transcription, DNA-dependent	cytoplasm|histone deacetylase complex	histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein kinase C binding|repressing transcription factor binding	g.chr17:42169758C>A	AF249731	CCDS32663.1, CCDS45696.1	17q21	2008-07-18					3.5.1.98		14068	protein-coding gene	gene with protein product		605315				10220385, 9610721	Standard	XM_005256905		Approved	KIAA0600, NY-CO-9, FLJ90614	uc002iff.1	Q9UQL6		ENST00000393622.2:c.910G>T	17.37:g.42169758C>A	ENSP00000377244:p.Gly304Trp					HDAC5_ENST00000586802.1_Missense_Mutation_p.G304W|HDAC5_ENST00000393622.2_Missense_Mutation_p.G304W|HDAC5_ENST00000336057.5_Missense_Mutation_p.G304W	p.G305W			Q9UQL6	HDAC5_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.118)	8	1236	-		Breast(137;0.00637)|Prostate(33;0.0313)	304					C9JFV9|O60340|O60528|Q96DY4	Missense_Mutation	SNP	ENST00000393622.2	37	c.913G>T	CCDS45696.1	.	.	.	.	.	.	.	.	.	.	C	14.70	2.612869	0.46631	.	.	ENSG00000108840	ENST00000225983;ENST00000393622;ENST00000336057	T;T;T	0.46063	0.88;0.88;0.88	5.21	3.09	0.35607	.	0.244349	0.28365	N	0.015613	T	0.22205	0.0535	N	0.08118	0	0.18873	N	0.999981	B;B;B;B	0.13594	0.001;0.008;0.001;0.001	B;B;B;B	0.11329	0.006;0.003;0.004;0.002	T	0.21280	-1.0250	10	0.87932	D	0	-16.694	8.7109	0.34382	0.0:0.6755:0.2386:0.0859	.	304;304;305;304	Q9UQL6-2;B4DGT4;Q9UQL6-3;Q9UQL6	.;.;.;HDAC5_HUMAN	W	305;304;304	ENSP00000225983:G305W;ENSP00000377244:G304W;ENSP00000337290:G304W	ENSP00000225983:G305W	G	-	1	0	HDAC5	39525284	0.622000	0.27085	0.774000	0.31636	0.897000	0.52465	0.503000	0.22610	1.199000	0.43173	0.462000	0.41574	GGG		0.582	HDAC5-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000457686.1	NM_001015053		4	58	1	0	0.150653	1	0.150653	4	58					A	42169758	C	A	42169758	3	1	361	1	0	0	0	0	1	0	0	0	7010	652	23	5	2538	5	HDAC5	17	42169758	Missense_Mutation	SNP	C	TCGA-QU-A6IN-01A-11D-A31L-08	3987182	42169758	39025452	28	18080											
BPTF	2186	broad.mit.edu	37	chr17	65907564	65907564	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caaaattccattgaaaatgaCatagaagaaaaagtctctga	20	9	6	6	0	1	5	0	3	1	2	3	5	2	5	1	0	0	0	1	0	8	3			TCGA-QU-A6IN-01A-11D-A31L-08	TCGA-QU-A6IN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8799b1d-3e1e-4d2a-ac5c-63509cd01c8b	9a41f5ef-4649-44de-883f-c7c0c4ee5de4	g.chr17:65907564C>T	ENST00000321892.4	+	13	4003	c.3942C>T	c.(3940-3942)gaC>gaT	p.D1314D	BPTF_ENST00000424123.3_Silent_p.D1175D|BPTF_ENST00000306378.6_Silent_p.D1188D|BPTF_ENST00000335221.5_Silent_p.D1314D			Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	1314					anterior/posterior pattern specification (GO:0009952)|ATP catabolic process (GO:0006200)|brain development (GO:0007420)|chromatin remodeling (GO:0006338)|embryonic placenta development (GO:0001892)|endoderm development (GO:0007492)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)|NURF complex (GO:0016589)	sequence-specific DNA binding (GO:0043565)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			TTGAAAATGACATAGAAGAAA	0.378																																						ENST00000321892.4																			0				NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						c.(3940-3942)gaC>gaT		bromodomain PHD finger transcription factor							41	41	41					17																	65907564		2203	4300	6503	SO:0001819	synonymous_variant	2186				brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NURF complex	sequence-specific DNA binding|transcription factor binding|zinc ion binding	g.chr17:65907564C>T	AY282495	CCDS11673.1	17q24	2013-01-28	2006-12-01	2006-12-01	ENSG00000171634	ENSG00000171634		"Zinc fingers, PHD-type"	3581	protein-coding gene	gene with protein product		601819	"fetal Alzheimer antigen"	FALZ		8975731, 10662542, 16728976	Standard	NM_182641		Approved	FAC1, NURF301	uc002jgf.3	Q12830	OTTHUMG00000132254	ENST00000321892.4:c.3942C>T	17.37:g.65907564C>T						BPTF_ENST00000424123.3_Silent_p.D1175D|BPTF_ENST00000306378.6_Silent_p.D1188D|BPTF_ENST00000335221.5_Silent_p.D1314D	p.D1314D			Q12830	BPTF_HUMAN	BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)		13	4003	+	all_cancers(12;6e-11)		1314					Q6NX67|Q7Z7D6|Q9UIG2	Silent	SNP	ENST00000321892.4	37	c.3942C>T																																																																																					0.378	BPTF-201	KNOWN	basic	protein_coding	protein_coding		NM_182641, NM_004459		13	10	0	0	0	1	0	13	10					T	65907564	C	T	65907564	2	4	361	1	0	0	0	0	0	0	0	1	1495	477	17	3		3	BPTF	17	65907564	Silent	SNP	C	TCGA-QU-A6IN-01A-11D-A31L-08	23737806	65907564	15287646	29	18081											
MRO	83876	broad.mit.edu	37	chr18	48333127	48333127	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtttctcattgccatgtgacGctttttagcactggggtccc	5	15	10	11	1	1	1	1	1	1	0	3	1	2	1	2	2	2	3	2	2	1	5	rs199725891	byFrequency	TCGA-QU-A6IN-01A-11D-A31L-08	TCGA-QU-A6IN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8799b1d-3e1e-4d2a-ac5c-63509cd01c8b	9a41f5ef-4649-44de-883f-c7c0c4ee5de4	g.chr18:48333127G>A	ENST00000428869.2	-	5	451	c.193C>T	c.(193-195)Cgt>Tgt	p.R65C	MRO_ENST00000588444.1_Missense_Mutation_p.R65C|MRO_ENST00000436348.2_Missense_Mutation_p.R79C|MRO_ENST00000398439.3_Missense_Mutation_p.R65C|MRO_ENST00000587291.1_Intron|MRO_ENST00000256425.2_Missense_Mutation_p.R65C|MRO_ENST00000431965.2_Missense_Mutation_p.R79C			Q9BYG7	MSTRO_HUMAN	maestro	65						nucleolus (GO:0005730)				breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(2)|skin(2)	10		Colorectal(6;0.0596)		Colorectal(21;0.082)		GCCATGTGACGCTTTTTAGCA	0.542													G|||	2	0.000399361	8e-04	0	5008	,	,		18501	0.001		0	False		,,,				2504	0					ENST00000428869.2																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(2)|skin(2)	10						c.(193-195)Cgt>Tgt		maestro							129	131	130					18																	48333127		2203	4300	6503	SO:0001583	missense	83876					nucleolus	binding	g.chr18:48333127G>A	AK054702	CCDS11947.1, CCDS45867.1, CCDS45868.1, CCDS45869.1	18q21	2012-12-19	2004-06-15		ENSG00000134042	ENSG00000134042		"maestro heat-like repeat containing"	24121	protein-coding gene	gene with protein product	"B29 protein", "beside the Ma29 deletion"	608080	"chromosome 18 open reading frame 3"	C18orf3		11401430	Standard	NM_031939		Approved	B29, FLJ30140	uc010dpa.3	Q9BYG7	OTTHUMG00000132692	ENST00000428869.2:c.193C>T	18.37:g.48333127G>A	ENSP00000409509:p.Arg65Cys					MRO_ENST00000398439.3_Missense_Mutation_p.R65C|MRO_ENST00000436348.2_Missense_Mutation_p.R79C|MRO_ENST00000256425.2_Missense_Mutation_p.R65C|MRO_ENST00000588444.1_Missense_Mutation_p.R65C|MRO_ENST00000431965.2_Missense_Mutation_p.R79C|MRO_ENST00000587291.1_Intron	p.R65C			Q9BYG7	MSTRO_HUMAN		Colorectal(21;0.082)	5	451	-		Colorectal(6;0.0596)	65					B7Z2I5|B7Z3B2|E9PAT5|E9PBI3|K7EKJ8|Q8N6K5	Missense_Mutation	SNP	ENST00000428869.2	37	c.193C>T	CCDS11947.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	15.77	2.931441	0.52866	.	.	ENSG00000134042	ENST00000436348;ENST00000431965;ENST00000428869;ENST00000398439;ENST00000256425	T;T;T;T;T	0.73789	-0.78;-0.74;0.77;0.77;0.77	5.43	5.43	0.79202	Armadillo-like helical (1);Armadillo-type fold (1);	0.131761	0.34025	N	0.004333	D	0.87557	0.6207	M	0.87269	2.87	0.53005	D	0.999961	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.998;0.998	D	0.89281	0.3612	10	0.72032	D	0.01	-23.2135	14.7393	0.69440	0.0:0.0:1.0:0.0	.	65;79;79;65	E9PFU2;E9PBI3;E9PAT5;Q9BYG7	.;.;.;MSTRO_HUMAN	C	79;79;65;65;65	ENSP00000397900:R79C;ENSP00000392614:R79C;ENSP00000409509:R65C;ENSP00000381465:R65C;ENSP00000256425:R65C	ENSP00000256425:R65C	R	-	1	0	MRO	46587125	1.000000	0.71417	1.000000	0.80357	0.115000	0.19883	4.727000	0.61993	2.565000	0.86533	0.561000	0.74099	CGT		0.542	MRO-003	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449478.2	NM_031939		12	121	0	0	0	1	0	12	121					A	48333127	G	A	48333127	3	1	361	1	0	0	0	0	1	0	0	0	9772	1087	38	1	573	1	MRO	18	48333127	Missense_Mutation	SNP	G	TCGA-QU-A6IN-01A-11D-A31L-08		48333127	29744121	30	18082											
HLCS	3141	broad.mit.edu	37	chr21	38311178	38311178	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttatccatgtggagtctatcTtccatgaacgccacccccag	9	11	7	14	1	2	1	0	1	2	0	4	2	4	2	5	1	1	0	5	1	3	3			TCGA-QU-A6IN-01A-11D-A31L-08	TCGA-QU-A6IN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8799b1d-3e1e-4d2a-ac5c-63509cd01c8b	9a41f5ef-4649-44de-883f-c7c0c4ee5de4	g.chr21:38311178T>C	ENST00000399120.1	-	4	1236	c.6A>G	c.(4-6)gaA>gaG	p.E2E	HLCS_ENST00000336648.4_Silent_p.E2E	NM_001242784.1	NP_001229713.1	P50747	BPL1_HUMAN	holocarboxylase synthetase (biotin-(proprionyl-CoA-carboxylase (ATP-hydrolysing)) ligase)	2					biotin metabolic process (GO:0006768)|cell proliferation (GO:0008283)|histone biotinylation (GO:0071110)|histone modification (GO:0016570)|protein biotinylation (GO:0009305)|response to biotin (GO:0070781)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nuclear lamina (GO:0005652)|nuclear matrix (GO:0016363)	ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin-[acetyl-CoA-carboxylase] ligase activity (GO:0004077)|biotin-[methylcrotonoyl-CoA-carboxylase] ligase activity (GO:0004078)|biotin-[methylmalonyl-CoA-carboxytransferase] ligase activity (GO:0004079)|biotin-[propionyl-CoA-carboxylase (ATP-hydrolyzing)] ligase activity (GO:0004080)|biotin-protein ligase activity (GO:0018271)|enzyme binding (GO:0019899)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|liver(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(46;0.0422)			Biotin(DB00121)	GGAGTCTATCTTCCATGAACG	0.458																																						ENST00000399120.1																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|liver(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	24						c.(4-6)gaA>gaG		holocarboxylase synthetase (biotin-(proprionyl-CoA-carboxylase (ATP-hydrolysing)) ligase)	Biotin(DB00121)						156	132	140					21																	38311178		2203	4300	6503	SO:0001819	synonymous_variant	3141				cell proliferation|histone biotinylation|response to biotin	chromatin|cytosol|mitochondrion|nuclear lamina|nuclear matrix	ATP binding|biotin binding|biotin-[acetyl-CoA-carboxylase] ligase activity|biotin-[methylcrotonoyl-CoA-carboxylase] ligase activity|biotin-[methylmalonyl-CoA-carboxytransferase] ligase activity|biotin-[propionyl-CoA-carboxylase (ATP-hydrolyzing)] ligase activity|enzyme binding	g.chr21:38311178T>C		CCDS13647.1	21q22.1	2012-07-13	2010-04-30		ENSG00000159267	ENSG00000159267	6.3.4.9, 6.3.4.10, 6.3.4.11, 6.3.4.15		4976	protein-coding gene	gene with protein product		609018	"holocarboxylase synthetase (biotin-[proprionyl-Coenzyme A-carboxylase (ATP-hydrolysing)] ligase)", "holocarboxylase synthetase (biotin-(proprionyl-Coenzyme A-carboxylase (ATP-hydrolysing)) ligase)"			7842009	Standard	NM_000411		Approved	HCS	uc021wjb.1	P50747	OTTHUMG00000086636	ENST00000399120.1:c.6A>G	21.37:g.38311178T>C						HLCS_ENST00000336648.3_Silent_p.E2E	p.E2E	NM_001242784.1	NP_001229713.1	P50747	BPL1_HUMAN			4	1236	-		Myeloproliferative disorder(46;0.0422)	2					B2RAH1|D3DSG6|Q99451	Silent	SNP	ENST00000399120.1	37	c.6A>G	CCDS13647.1																																																																																				0.458	HLCS-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194687.2			32	48	0	0	0	1	0	32	48					C	38311178	T	C	38311178	2	2	361	1	0	0	0	0	0	0	0	1	7213	1606	56	4		4	HLCS	21	38311178	Silent	SNP	T	TCGA-QU-A6IN-01A-11D-A31L-08		38311178	9818717	31	18083											
CCDC157	550631	broad.mit.edu	37	chr22	30762123	30762123	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctcctggaagttccctgaccGcatggcctgtgacctcgaca	7	9	10	15	2	0	2	0	2	0	0	3	4	2	3	5	2	0	2	5	2	1	1	rs201763455		TCGA-QU-A6IN-01A-11D-A31L-08	TCGA-QU-A6IN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8799b1d-3e1e-4d2a-ac5c-63509cd01c8b	9a41f5ef-4649-44de-883f-c7c0c4ee5de4	g.chr22:30762123G>A	ENST00000405659.1	+	3	843	c.134G>A	c.(133-135)cGc>cAc	p.R45H	CCDC157_ENST00000338306.3_Missense_Mutation_p.R45H|CCDC157_ENST00000399824.2_Missense_Mutation_p.R45H			Q569K6	CC157_HUMAN	coiled-coil domain containing 157	45										central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(5)|skin(3)|upper_aerodigestive_tract(1)	15						TTCCCTGACCGCATGGCCTGT	0.652																																						ENST00000405659.1																			0				central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(5)|skin(3)|upper_aerodigestive_tract(1)	15						c.(133-135)cGc>cAc		coiled-coil domain containing 157		G	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	136	124	128		134	3.1	0.8	22		128	0,8600		0,0,4300	yes	missense	CCDC157	NM_001017437.2	29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	possibly-damaging	45/753	30762123	1,13005	2203	4300	6503	SO:0001583	missense	550631							g.chr22:30762123G>A	BC018040	CCDS33632.2	22q12.2	2009-03-05			ENSG00000187860	ENSG00000187860			33854	protein-coding gene	gene with protein product							Standard	NM_001017437		Approved		uc011aku.2	Q569K6	OTTHUMG00000151007	ENST00000405659.1:c.134G>A	22.37:g.30762123G>A	ENSP00000385357:p.Arg45His					CCDC157_ENST00000399824.2_Missense_Mutation_p.R45H|CCDC157_ENST00000338306.3_Missense_Mutation_p.R45H	p.R45H			Q569K6	CC157_HUMAN			3	843	+			45					Q0VD76|Q9BYA4	Missense_Mutation	SNP	ENST00000405659.1	37	c.134G>A	CCDS33632.2	.	.	.	.	.	.	.	.	.	.	G	14.63	2.592740	0.46214	2.27E-4	0.0	ENSG00000187860	ENST00000399824;ENST00000405659;ENST00000338306;ENST00000445005;ENST00000430839	T;T;T;T;T	0.49720	0.77;1.73;1.73;1.31;1.3	5.25	3.14	0.36123	.	.	.	.	.	T	0.39989	0.1099	L	0.54323	1.7	0.80722	D	1	B	0.15930	0.015	B	0.09377	0.004	T	0.41893	-0.9483	9	0.72032	D	0.01	-10.9826	6.8649	0.24088	0.2995:0.0:0.7005:0.0	.	45	Q569K6	CC157_HUMAN	H	45	ENSP00000382720:R45H;ENSP00000385357:R45H;ENSP00000343087:R45H;ENSP00000387491:R45H;ENSP00000401837:R45H	ENSP00000343087:R45H	R	+	2	0	CCDC157	29092123	0.704000	0.27836	0.834000	0.33040	0.630000	0.37929	2.334000	0.43920	1.352000	0.45808	0.455000	0.32223	CGC		0.652	CCDC157-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000320936.1	NM_001017437		4	147	0	0	0	1	0	4	147					A	30762123	G	A	30762123	3	1	361	1	0	0	0	0	1	0	0	0	2789	1087	38	1	136	1	CCDC157	22	30762123	Missense_Mutation	SNP	G	TCGA-QU-A6IN-01A-11D-A31L-08		30762123	20542443	32	18084											
NCF4	4689	broad.mit.edu	37	chr22	37263465	37263465	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtgggtgtgaaacaggagatCgccgagatgcggatacctgc	10	7	16	8	3	0	3	0	1	0	2	1	6	0	4	2	3	4	0	2	3	2	1			TCGA-QU-A6IN-01A-11D-A31L-08	TCGA-QU-A6IN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8799b1d-3e1e-4d2a-ac5c-63509cd01c8b	9a41f5ef-4649-44de-883f-c7c0c4ee5de4	g.chr22:37263465C>T	ENST00000248899.6	+	4	487	c.303C>T	c.(301-303)atC>atT	p.I101I	NCF4_ENST00000397147.4_Silent_p.I101I|CTA-833B7.2_ENST00000330602.2_RNA|CTA-833B7.2_ENST00000431290.1_RNA	NM_000631.4	NP_000622.2	Q15080	NCF4_HUMAN	neutrophil cytosolic factor 4, 40kDa	101	PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.				antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|immune response (GO:0006955)|interaction with host (GO:0051701)|oxidation-reduction process (GO:0055114)|phagosome maturation (GO:0090382)|positive regulation of catalytic activity (GO:0043085)	cytosol (GO:0005829)|endosome membrane (GO:0010008)|membrane (GO:0016020)|NADPH oxidase complex (GO:0043020)|phagolysosome (GO:0032010)	phosphatidylinositol-3-phosphate binding (GO:0032266)|protein dimerization activity (GO:0046983)|superoxide-generating NADPH oxidase activator activity (GO:0016176)			cervix(1)|endometrium(4)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	16					Dextromethorphan(DB00514)	AACAGGAGATCGCCGAGATGC	0.607																																						ENST00000397147.4																			0				cervix(1)|endometrium(4)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	16						c.(301-303)atC>atT		neutrophil cytosolic factor 4, 40kDa							104	73	84					22																	37263465		2203	4300	6503	SO:0001819	synonymous_variant	4689				cell communication|immune response|oxidation-reduction process	cytosol|NADPH oxidase complex	phosphatidylinositol binding|protein dimerization activity	g.chr22:37263465C>T	X77094	CCDS13934.1, CCDS13935.1	22q13.1	2014-09-17	2002-08-29		ENSG00000100365	ENSG00000100365			7662	protein-coding gene	gene with protein product	"neutrophil NADPH oxidase factor 4"	601488	"neutrophil cytosolic factor 4 (40kD)"			8839867	Standard	NM_013416		Approved	p40phox, SH3PXD4	uc003apy.4	Q15080	OTTHUMG00000150548	ENST00000248899.6:c.303C>T	22.37:g.37263465C>T						CTA-833B7.2_ENST00000431290.1_RNA|CTA-833B7.2_ENST00000330602.2_RNA|NCF4_ENST00000248899.6_Silent_p.I101I	p.I101I	NM_013416.3	NP_038202.2	Q15080	NCF4_HUMAN			4	487	+			101			PX.		A8K4F9|O60808|Q86U56|Q9BU98|Q9NP45	Silent	SNP	ENST00000248899.6	37	c.303C>T	CCDS13934.1																																																																																				0.607	NCF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318863.1	NM_000631		14	32	0	0	0	1	0	14	32					T	37263465	C	T	37263465	2	4	361	1	0	0	0	0	0	0	0	1	10218	874	31	2		2	NCF4	22	37263465	Silent	SNP	C	TCGA-QU-A6IN-01A-11D-A31L-08	6501342	37263465	14041101	33	18085											
MAGEB6	158809	broad.mit.edu	37	chrX	26212779	26212779	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcaagctaggcctccccagTgaaggaattctgagtggtga	11	8	13	9	0	1	3	0	3	1	0	2	4	2	4	3	3	2	2	3	3	4	2			TCGA-QU-A6IN-01A-11D-A31L-08	TCGA-QU-A6IN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8799b1d-3e1e-4d2a-ac5c-63509cd01c8b	9a41f5ef-4649-44de-883f-c7c0c4ee5de4	g.chrX:26212779T>A	ENST00000379034.1	+	2	965	c.816T>A	c.(814-816)agT>agA	p.S272R		NM_173523.2	NP_775794.2	Q8N7X4	MAGB6_HUMAN	melanoma antigen family B, 6	272	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.									breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(18)|ovary(3)|prostate(2)	33						GCCTCCCCAGTGAAGGAATTC	0.532																																						ENST00000379034.1																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(18)|ovary(3)|prostate(2)	33						c.(814-816)agT>agA		melanoma antigen family B, 6							108	95	99					X																	26212779		2202	4300	6502	SO:0001583	missense	158809							g.chrX:26212779T>A	AF320514	CCDS14217.1	Xp22.12	2009-03-17			ENSG00000176746	ENSG00000176746			23796	protein-coding gene	gene with protein product	"cancer/testis antigen family 3, member 4"	300467				10861452	Standard	NM_173523		Approved	FLJ40242, MAGE-B6, MAGEB6A, CT3.4	uc004dbr.3	Q8N7X4	OTTHUMG00000021285	ENST00000379034.1:c.816T>A	X.37:g.26212779T>A	ENSP00000368320:p.Ser272Arg						p.S272R	NM_173523.2	NP_775794.2	Q8N7X4	MAGB6_HUMAN			2	965	+			272			MAGE.		Q6GS19|Q9H219	Missense_Mutation	SNP	ENST00000379034.1	37	c.816T>A	CCDS14217.1	.	.	.	.	.	.	.	.	.	.	T	2.555	-0.303084	0.05495	.	.	ENSG00000176746	ENST00000379034	T	0.04917	3.53	3.29	-6.52	0.01872	.	1.768910	0.03485	N	0.215634	T	0.11067	0.0270	L	0.48986	1.54	0.09310	N	1	P	0.51653	0.947	P	0.59761	0.863	T	0.31586	-0.9938	10	0.25751	T	0.34	.	2.1311	0.03750	0.1307:0.1585:0.1301:0.5806	.	272	Q8N7X4	MAGB6_HUMAN	R	272	ENSP00000368320:S272R	ENSP00000368320:S272R	S	+	3	2	MAGEB6	26122700	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-3.067000	0.00620	-1.872000	0.01136	-2.105000	0.00359	AGT		0.532	MAGEB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056123.1	NM_173523		51	11	0	0	0	1	0	51	11					A	26212779	T	A	26212779	3	1	361	1	0	0	0	0	1	0	0	0	9179	1693	59	5	818	5	MAGEB6	23	26212779	Missense_Mutation	SNP	T	TCGA-QU-A6IN-01A-11D-A31L-08		26212779	129057781	34	18086											
UBIAD1	29914	broad.mit.edu	37	chr1	11345718	11345718	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggaattggattcaagtacGtggctctgggagacctcatc	10	10	12	9	1	3	1	2	0	1	1	4	4	3	3	1	4	1	2	1	4	3	3			TCGA-QU-A6IO-01A-11D-A31L-08	TCGA-QU-A6IO-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1610fca4-8d42-4e49-8bac-0e2f2d6bd7c4	3667be24-0cb9-4641-85f0-8d65e011d511	g.chr1:11345718G>A	ENST00000376810.5	+	2	873	c.547G>A	c.(547-549)Gtg>Atg	p.V183M	UBIAD1_ENST00000376804.2_Intron	NM_013319.2	NP_037451.1	Q9Y5Z9	UBIA1_HUMAN	UbiA prenyltransferase domain containing 1	183					menaquinone biosynthetic process (GO:0009234)|ubiquinone biosynthetic process (GO:0006744)|vitamin K biosynthetic process (GO:0042371)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|integral component of Golgi membrane (GO:0030173)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	antioxidant activity (GO:0016209)|prenyltransferase activity (GO:0004659)	p.V183M(1)		endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|prostate(3)	12	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.000818)|all_lung(284;0.00105)|Colorectal(325;0.0062)|Breast(348;0.012)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.52e-06)|COAD - Colon adenocarcinoma(227;0.000254)|BRCA - Breast invasive adenocarcinoma(304;0.000299)|Kidney(185;0.000754)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00727)|READ - Rectum adenocarcinoma(331;0.0487)		ATTCAAGTACGTGGCTCTGGG	0.552																																						ENST00000376810.5																			1	Substitution - Missense(1)	p.V183M(1)	prostate(1)	endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|prostate(3)	12						c.(547-549)Gtg>Atg		UbiA prenyltransferase domain containing 1							101	85	90					1																	11345718		2203	4300	6503	SO:0001583	missense	29914				menaquinone biosynthetic process	endoplasmic reticulum membrane|integral to membrane|mitochondrion|nucleus	prenyltransferase activity	g.chr1:11345718G>A		CCDS129.1	1p36.22	2012-05-02			ENSG00000120942	ENSG00000120942			30791	protein-coding gene	gene with protein product	"transitional epithelia response protein"	611632	"Schnyder crystalline corneal dystrophy"	SCCD		20953171, 12497587, 11314041, 17668063, 17962451, 8894705	Standard	NM_013319		Approved	TERE1	uc001asg.3	Q9Y5Z9	OTTHUMG00000002075	ENST00000376810.5:c.547G>A	1.37:g.11345718G>A	ENSP00000366006:p.Val183Met					UBIAD1_ENST00000376804.2_Intron	p.V183M	NM_013319.2	NP_037451.1	Q9Y5Z9	UBIA1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.52e-06)|COAD - Colon adenocarcinoma(227;0.000254)|BRCA - Breast invasive adenocarcinoma(304;0.000299)|Kidney(185;0.000754)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00727)|READ - Rectum adenocarcinoma(331;0.0487)	2	873	+	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.000818)|all_lung(284;0.00105)|Colorectal(325;0.0062)|Breast(348;0.012)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731)	183					B3KQG3|Q53GX3|Q5THD4	Missense_Mutation	SNP	ENST00000376810.5	37	c.547G>A	CCDS129.1	.	.	.	.	.	.	.	.	.	.	G	14.93	2.681402	0.47991	.	.	ENSG00000120942	ENST00000376810	D	0.92858	-3.12	5.44	4.52	0.55395	.	0.120448	0.56097	D	0.000034	D	0.86653	0.5984	L	0.35414	1.06	0.80722	D	1	B	0.27117	0.168	B	0.23574	0.047	T	0.82400	-0.0476	10	0.27082	T	0.32	0.0579	13.7157	0.62695	0.0:0.1649:0.8351:0.0	.	183	Q9Y5Z9	UBIA1_HUMAN	M	183	ENSP00000366006:V183M	ENSP00000366006:V183M	V	+	1	0	UBIAD1	11268305	1.000000	0.71417	0.989000	0.46669	0.959000	0.62525	7.550000	0.82173	1.260000	0.44134	0.491000	0.48974	GTG		0.552	UBIAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005773.1	NM_013319		4	54	0	0	0	1	0	4	54					A	11345718	G	A	11345718	3	1	362	1	0	0	0	0	1	0	0	0	16882	1145	40	1	553	1	UBIAD1	1	11345718	Missense_Mutation	SNP	G	TCGA-QU-A6IO-01A-11D-A31L-08		11345718	237904903	1	18087											
KPNA6	23633	broad.mit.edu	37	chr1	32622470	32622470	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcagctttttaaacggagaaAtgtggagctgattaatgaag	14	12	11	4	1	1	3	1	2	0	1	1	5	1	4	0	2	3	2	0	2	5	4			TCGA-QU-A6IO-01A-11D-A31L-08	TCGA-QU-A6IO-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1610fca4-8d42-4e49-8bac-0e2f2d6bd7c4	3667be24-0cb9-4641-85f0-8d65e011d511	g.chr1:32622470A>T	ENST00000373625.3	+	3	248	c.155A>T	c.(154-156)aAt>aTt	p.N52I	KPNA6_ENST00000469790.1_3'UTR|KPNA6_ENST00000545542.1_Missense_Mutation_p.N57I|KPNA6_ENST00000537234.1_Missense_Mutation_p.N49I	NM_012316.4	NP_036448.1	O60684	IMA7_HUMAN	karyopherin alpha 6 (importin alpha 7)	52	IBB. {ECO:0000255|PROSITE- ProRule:PRU00561}.				maternal process involved in female pregnancy (GO:0060135)|NLS-bearing protein import into nucleus (GO:0006607)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	protein transporter activity (GO:0008565)			large_intestine(2)	2		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)				AAACGGAGAAATGTGGAGCTG	0.413																																						ENST00000373625.3																			0				large_intestine(2)	2						c.(154-156)aAt>aTt		karyopherin alpha 6 (importin alpha 7)							146	142	143					1																	32622470		2203	4300	6503	SO:0001583	missense	23633				NLS-bearing substrate import into nucleus	cytoplasm|nuclear pore	protein binding	g.chr1:32622470A>T	AF060543	CCDS352.1	1p35.1	2013-02-14			ENSG00000025800	ENSG00000025800		"Importins", "Armadillo repeat containing"	6399	protein-coding gene	gene with protein product		610563				10523667	Standard	NM_012316		Approved	IPOA7, KPNA7, MGC17918, FLJ11249	uc001bug.3	O60684	OTTHUMG00000004333	ENST00000373625.3:c.155A>T	1.37:g.32622470A>T	ENSP00000362728:p.Asn52Ile					KPNA6_ENST00000469790.1_3'UTR|KPNA6_ENST00000545542.1_Missense_Mutation_p.N57I|KPNA6_ENST00000537234.1_Missense_Mutation_p.N49I	p.N52I	NM_012316.4	NP_036448.1	O60684	IMA7_HUMAN			3	248	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)	52			IBB.		B2RDC7|D3DPP5|Q5VVU3	Missense_Mutation	SNP	ENST00000373625.3	37	c.155A>T	CCDS352.1	.	.	.	.	.	.	.	.	.	.	A	26.7	4.759539	0.89932	.	.	ENSG00000025800	ENST00000373625;ENST00000373617;ENST00000537234;ENST00000545542;ENST00000446515	T;T;T;T	0.51817	0.69;0.69;0.69;1.78	5.39	5.39	0.77823	Importin-alpha, importin-beta-binding domain (2);Armadillo-like helical (1);Armadillo-type fold (1);	0.041393	0.85682	D	0.000000	T	0.77025	0.4070	H	0.94183	3.505	0.80722	D	1	D;P	0.76494	0.999;0.943	D;P	0.72625	0.978;0.832	D	0.84281	0.0494	10	0.87932	D	0	-13.2751	15.7214	0.77713	1.0:0.0:0.0:0.0	.	57;52	F5GYL8;O60684	.;IMA7_HUMAN	I	52;26;49;57;3	ENSP00000362728:N52I;ENSP00000444930:N49I;ENSP00000440609:N57I;ENSP00000415677:N3I	ENSP00000362719:N26I	N	+	2	0	KPNA6	32395057	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.232000	0.95325	2.188000	0.69820	0.533000	0.62120	AAT		0.413	KPNA6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000012527.4	NM_012316		12	68	0	0	0	1	0	12	68					T	32622470	A	T	32622470	3	4	362	1	0	0	0	0	1	0	0	0	8434	101	4	5	165	5	KPNA6	1	32622470	Missense_Mutation	SNP	A	TCGA-QU-A6IO-01A-11D-A31L-08	21276752	32622470	216628151	2	18088											
SGIP1	84251	broad.mit.edu	37	chr1	67154846	67154846	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttcaggtgcatcatcccctgCtcgaccagccactcctttgg	6	11	8	16	1	2	0	2	0	0	0	5	1	4	0	5	2	3	2	5	2	0	2			TCGA-QU-A6IO-01A-11D-A31L-08	TCGA-QU-A6IO-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1610fca4-8d42-4e49-8bac-0e2f2d6bd7c4	3667be24-0cb9-4641-85f0-8d65e011d511	g.chr1:67154846C>T	ENST00000371037.4	+	16	1408	c.1331C>T	c.(1330-1332)gCt>gTt	p.A444V	SGIP1_ENST00000371039.1_Missense_Mutation_p.A245V|SGIP1_ENST00000237247.6_Missense_Mutation_p.A475V|SGIP1_ENST00000371035.3_Missense_Mutation_p.A234V|SGIP1_ENST00000371036.3_Missense_Mutation_p.A244V	NM_032291.2	NP_115667.2	Q9BQI5	SGIP1_HUMAN	SH3-domain GRB2-like (endophilin) interacting protein 1	444	Pro-rich.				endocytosis (GO:0006897)|membrane tubulation (GO:0097320)|positive regulation of energy homeostasis (GO:2000507)|positive regulation of feeding behavior (GO:2000253)|positive regulation of receptor-mediated endocytosis (GO:0048260)|response to dietary excess (GO:0002021)	AP-2 adaptor complex (GO:0030122)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	microtubule binding (GO:0008017)|phospholipid binding (GO:0005543)|SH3 domain binding (GO:0017124)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(43)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	71						TCATCCCCTGCTCGACCAGCC	0.537																																						ENST00000371037.4																			0				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(43)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	71						c.(1330-1332)gCt>gTt		SH3-domain GRB2-like (endophilin) interacting protein 1							205	209	208					1																	67154846		2203	4300	6503	SO:0001583	missense	84251				positive regulation of energy homeostasis|positive regulation of feeding behavior|positive regulation of receptor-mediated endocytosis|response to dietary excess	AP-2 adaptor complex	microtubule binding|phospholipid binding|SH3 domain binding	g.chr1:67154846C>T	AL136561	CCDS30744.1	1p31.3	2008-02-05			ENSG00000118473	ENSG00000118473			25412	protein-coding gene	gene with protein product		611540				11230166	Standard	NM_032291		Approved	DKFZp761D221	uc001dcr.3	Q9BQI5	OTTHUMG00000009161	ENST00000371037.4:c.1331C>T	1.37:g.67154846C>T	ENSP00000360076:p.Ala444Val					SGIP1_ENST00000371035.3_Missense_Mutation_p.A234V|SGIP1_ENST00000371036.3_Missense_Mutation_p.A244V|SGIP1_ENST00000371039.1_Missense_Mutation_p.A245V|SGIP1_ENST00000237247.6_Missense_Mutation_p.A475V	p.A444V	NM_032291.2	NP_115667.2	Q9BQI5	SGIP1_HUMAN			16	1408	+			444			Pro-rich.		A6NL81|A6NLD1|Q4LE32|Q5VYE2|Q5VYE3|Q5VYE4|Q68D76|Q6MZY6|Q8IWC2	Missense_Mutation	SNP	ENST00000371037.4	37	c.1331C>T	CCDS30744.1	.	.	.	.	.	.	.	.	.	.	C	14.66	2.601494	0.46423	.	.	ENSG00000118473	ENST00000237247;ENST00000371039;ENST00000371035;ENST00000371038;ENST00000407289;ENST00000371036;ENST00000371037	T;T;T;T;T	0.03386	3.95;3.95;3.95;3.95;3.95	6.17	5.26	0.73747	.	0.222286	0.46758	N	0.000272	T	0.01454	0.0047	L	0.31926	0.97	0.32869	D	0.50905	P;B;B;B	0.34864	0.473;0.003;0.001;0.022	B;B;B;B	0.26416	0.069;0.003;0.003;0.004	T	0.49428	-0.8941	10	0.45353	T	0.12	-17.8615	14.6863	0.69052	0.0:0.9297:0.0:0.0703	.	474;44;234;444	A6NEV3;B3KR01;B7Z5H8;Q9BQI5	.;.;.;SGIP1_HUMAN	V	475;245;234;474;447;244;444	ENSP00000237247:A475V;ENSP00000360078:A245V;ENSP00000360074:A234V;ENSP00000360075:A244V;ENSP00000360076:A444V	ENSP00000237247:A475V	A	+	2	0	SGIP1	66927434	1.000000	0.71417	1.000000	0.80357	0.324000	0.28378	5.149000	0.64863	1.626000	0.50381	0.655000	0.94253	GCT		0.537	SGIP1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000025395.4	NM_032291		8	382	0	0	0	1	0	8	382					T	67154846	C	T	67154846	3	4	362	1	0	0	0	0	1	0	0	0	14206	797	28	3	1393	3	SGIP1	1	67154846	Missense_Mutation	SNP	C	TCGA-QU-A6IO-01A-11D-A31L-08	34532376	67154846	182095775	3	18089											
YY1AP1	55249	broad.mit.edu	37	chr1	155646464	155646464	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttggctgaaggtttcttcaTcttcagctgttcaaatagtt	8	18	8	7	0	5	1	3	1	2	0	5	1	5	1	0	2	1	5	0	2	3	7			TCGA-QU-A6IO-01A-11D-A31L-08	TCGA-QU-A6IO-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1610fca4-8d42-4e49-8bac-0e2f2d6bd7c4	3667be24-0cb9-4641-85f0-8d65e011d511	g.chr1:155646464T>C	ENST00000295566.4	-	5	420	c.397A>G	c.(397-399)Atg>Gtg	p.M133V	YY1AP1_ENST00000368330.2_Missense_Mutation_p.M67V|YY1AP1_ENST00000311573.5_Missense_Mutation_p.M56V|YY1AP1_ENST00000404643.1_Missense_Mutation_p.M67V|YY1AP1_ENST00000535662.1_5'Flank|YY1AP1_ENST00000368339.5_Missense_Mutation_p.M205V|YY1AP1_ENST00000405763.3_Missense_Mutation_p.M205V|YY1AP1_ENST00000368340.5_Missense_Mutation_p.M205V|MSTO1_ENST00000452804.2_Intron|YY1AP1_ENST00000361831.5_Missense_Mutation_p.M56V|YY1AP1_ENST00000438245.2_Missense_Mutation_p.M67V|YY1AP1_ENST00000407221.1_Missense_Mutation_p.M56V|YY1AP1_ENST00000355499.4_Missense_Mutation_p.M67V|YY1AP1_ENST00000476093.1_5'UTR|YY1AP1_ENST00000347088.5_Missense_Mutation_p.M67V|MSTO1_ENST00000538143.1_Intron|YY1AP1_ENST00000359205.5_Missense_Mutation_p.M56V	NM_001198906.1|NM_139118.2	NP_001185835.1|NP_620829.1	Q9H869	YYAP1_HUMAN	YY1 associated protein 1	133					regulation of cell cycle (GO:0051726)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(7)|ovary(2)|skin(2)|urinary_tract(2)	31	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)					GGTTTCTTCATCTTCAGCTGT	0.443																																						ENST00000368340.5																			0				central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(7)|ovary(2)|skin(2)|urinary_tract(2)	31						c.(613-615)Atg>Gtg		YY1 associated protein 1							228	184	199					1																	155646464		2203	4300	6503	SO:0001583	missense	55249							g.chr1:155646464T>C	BC008766	CCDS1115.1, CCDS1116.1, CCDS55643.1, CCDS55644.1, CCDS55645.1	1q22	2009-05-07			ENSG00000163374	ENSG00000163374			30935	protein-coding gene	gene with protein product		607860				11710830	Standard	NM_139119		Approved	YY1AP, HCCA2, YAP		Q9H869	OTTHUMG00000035437	ENST00000295566.4:c.397A>G	1.37:g.155646464T>C	ENSP00000295566:p.Met133Val					YY1AP1_ENST00000438245.2_Missense_Mutation_p.M67V|YY1AP1_ENST00000355499.4_Missense_Mutation_p.M67V|YY1AP1_ENST00000405763.3_Missense_Mutation_p.M205V|YY1AP1_ENST00000295566.4_Missense_Mutation_p.M133V|YY1AP1_ENST00000361831.5_Missense_Mutation_p.M56V|YY1AP1_ENST00000359205.5_Missense_Mutation_p.M56V|YY1AP1_ENST00000404643.1_Missense_Mutation_p.M67V|YY1AP1_ENST00000476093.1_5'UTR|YY1AP1_ENST00000368330.2_Missense_Mutation_p.M67V|YY1AP1_ENST00000368339.5_Missense_Mutation_p.M205V|YY1AP1_ENST00000311573.5_Missense_Mutation_p.M56V|YY1AP1_ENST00000347088.5_Missense_Mutation_p.M67V|MSTO1_ENST00000538143.1_Intron|YY1AP1_ENST00000407221.1_Missense_Mutation_p.M56V|MSTO1_ENST00000452804.2_Intron	p.M205V	NM_001198904.1	NP_001185833.1					4	721	-	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)							B0QZ54|B4DMP2|B4E0I0|D3DV96|D3DV98|H7BY62|Q5VYZ1|Q5VYZ4|Q5VYZ7|Q7L4C3|Q7L5E2|Q8IXA6|Q8TEW5|Q8TF04|Q96HB6|Q9BQ64|Q9NV84	Missense_Mutation	SNP	ENST00000295566.4	37	c.613A>G	CCDS1115.1	.	.	.	.	.	.	.	.	.	.	T	6.932	0.541677	0.13250	.	.	ENSG00000163374	ENST00000359205;ENST00000355499;ENST00000311573;ENST00000347088;ENST00000361831;ENST00000368340;ENST00000295566;ENST00000368330;ENST00000407221;ENST00000404643;ENST00000368339;ENST00000405763;ENST00000438245;ENST00000443231;ENST00000454523	T;T;T;T;T;T;T;T;T;T;T	0.23552	1.93;1.94;1.96;1.94;1.93;1.91;1.92;1.94;1.96;1.94;1.9	3.78	-0.124	0.13523	.	0.401870	0.29653	N	0.011546	T	0.09774	0.0240	M	0.62723	1.935	0.24883	N	0.99221	B;B;B;B;P;B;P;B	0.38827	0.121;0.199;0.009;0.27;0.565;0.031;0.649;0.32	B;B;B;B;B;B;B;B	0.39840	0.068;0.193;0.004;0.105;0.241;0.187;0.311;0.105	T	0.14144	-1.0483	10	0.56958	D	0.05	.	3.1828	0.06590	0.2919:0.176:0.0:0.5321	.	67;133;205;67;205;133;67;205	B4DZQ4;B4DQQ0;B4DMP2;Q9H869-4;B0QZ55;Q9H869;Q9H869-2;Q5VYZ1	.;.;.;.;.;YYAP1_HUMAN;.;.	V	56;67;56;67;56;205;133;67;56;67;205;205;67;56;67	ENSP00000352134:M56V;ENSP00000347686:M67V;ENSP00000311138:M56V;ENSP00000316079:M67V;ENSP00000355298:M56V;ENSP00000357324:M205V;ENSP00000295566:M133V;ENSP00000357314:M67V;ENSP00000385791:M56V;ENSP00000385390:M67V;ENSP00000357323:M205V	ENSP00000295566:M133V	M	-	1	0	YY1AP1	153913088	0.047000	0.20315	0.998000	0.56505	0.343000	0.28985	-0.039000	0.12124	0.068000	0.16574	-0.714000	0.03626	ATG		0.443	YY1AP1-043	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000086027.1	NM_139118		16	74	0	0	0	1	0	16	74					C	155646464	T	C	155646464	3	2	362	1	0	0	0	0	1	0	0	0	17505	1435	50	4	2081	4	YY1AP1	1	155646464	Missense_Mutation	SNP	T	TCGA-QU-A6IO-01A-11D-A31L-08	88491618	155646464	93604157	4	18090											
FCRL2	79368	broad.mit.edu	37	chr1	157737056	157737056	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gcactgcctcactgcactggGcccccaggccgttgttggcc	4	8	12	17	1	1	0	1	0	0	0	1	0	1	0	5	3	2	4	5	3	0	2			TCGA-QU-A6IO-01A-11D-A31L-08	TCGA-QU-A6IO-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1610fca4-8d42-4e49-8bac-0e2f2d6bd7c4	3667be24-0cb9-4641-85f0-8d65e011d511	g.chr1:157737056G>A	ENST00000361516.3	-	6	1175	c.1127C>T	c.(1126-1128)gCc>gTc	p.A376V	FCRL2_ENST00000469986.1_Missense_Mutation_p.A123V|FCRL2_ENST00000392274.3_Missense_Mutation_p.A376V|FCRL2_ENST00000368181.4_Intron	NM_030764.3	NP_110391.2	Q96LA5	FCRL2_HUMAN	Fc receptor-like 2	376	Ig-like C2-type 4.				cell-cell signaling (GO:0007267)|positive regulation of signal transduction (GO:0009967)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	SH3/SH2 adaptor activity (GO:0005070)			central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|skin(2)	51	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			ACTGCACTGGGCCCCCAGGCC	0.572																																						ENST00000361516.3																			0				central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|skin(2)	51						c.(1126-1128)gCc>gTc		Fc receptor-like 2							59	63	62					1																	157737056		2203	4300	6503	SO:0001583	missense	79368				cell-cell signaling	integral to membrane|plasma membrane|soluble fraction	receptor activity|SH3/SH2 adaptor activity	g.chr1:157737056G>A	AF319438	CCDS1168.1	1q23.1	2013-01-14	2002-01-14	2005-03-23	ENSG00000132704	ENSG00000132704		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	14875	protein-coding gene	gene with protein product		606509	"SH2 domain-containing phosphatase anchor protein 1"	SPAP1		11162587	Standard	NM_030764		Approved	FCRH2, IRTA4, CD307b	uc001fre.2	Q96LA5	OTTHUMG00000019399	ENST00000361516.3:c.1127C>T	1.37:g.157737056G>A	ENSP00000355157:p.Ala376Val					FCRL2_ENST00000469986.1_Missense_Mutation_p.A123V|FCRL2_ENST00000368181.4_Intron|FCRL2_ENST00000392274.3_Missense_Mutation_p.A376V	p.A376V	NM_030764.3	NP_110391.2	Q96LA5	FCRL2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.24)		6	1175	-	all_hematologic(112;0.0378)		376			Ig-like C2-type 4.		A0N0M5|A1L307|A6NMS0|Q6NTA1|Q9BZI4|Q9BZI5|Q9BZI6	Missense_Mutation	SNP	ENST00000361516.3	37	c.1127C>T	CCDS1168.1	.	.	.	.	.	.	.	.	.	.	G	4.831	0.154485	0.09236	.	.	ENSG00000132704	ENST00000361516;ENST00000392274;ENST00000469986	T;T;T	0.03181	4.02;4.02;4.02	3.99	-1.81	0.07882	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.976727	0.08341	N	0.960816	T	0.00998	0.0033	L	0.27975	0.815	0.09310	N	1	B;B;P	0.45126	0.415;0.246;0.851	B;B;P	0.46718	0.083;0.099;0.525	T	0.37314	-0.9711	10	0.15499	T	0.54	.	2.6462	0.04985	0.3226:0.0:0.3256:0.3518	.	376;376;123	B4DVJ9;Q96LA5;Q96LA5-2	.;FCRL2_HUMAN;.	V	376;376;123	ENSP00000355157:A376V;ENSP00000376100:A376V;ENSP00000417393:A123V	ENSP00000355157:A376V	A	-	2	0	FCRL2	156003680	0.001000	0.12720	0.001000	0.08648	0.023000	0.10783	0.403000	0.20982	-0.134000	0.11516	-0.229000	0.12294	GCC		0.572	FCRL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051408.2	NM_030764		21	60	0	0	0	1	0	21	60					A	157737056	G	A	157737056	3	1	362	1	0	0	0	0	1	0	0	0	5795	1203	42	3	427	3	FCRL2	1	157737056	Missense_Mutation	SNP	G	TCGA-QU-A6IO-01A-11D-A31L-08	2090592	157737056	91513565	5	18091											
OR10R2	343406	broad.mit.edu	37	chr1	158449735	158449735	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccccctttgcagatcttggCagaaaacctcaccatggtca	10	10	7	14	0	3	2	2	0	1	2	4	2	4	2	4	2	2	2	4	2	2	2			TCGA-QU-A6IO-01A-11D-A31L-08	TCGA-QU-A6IO-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1610fca4-8d42-4e49-8bac-0e2f2d6bd7c4	3667be24-0cb9-4641-85f0-8d65e011d511	g.chr1:158449735C>A	ENST00000368152.1	+	1	68	c.68C>A	c.(67-69)gCa>gAa	p.A23E	RP11-144L1.4_ENST00000419738.1_RNA|RP11-144L1.4_ENST00000426251.1_RNA	NM_001004472.1	NP_001004472.1	Q8NGX6	O10R2_HUMAN	olfactory receptor, family 10, subfamily R, member 2	23						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(26)|pancreas(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	41	all_hematologic(112;0.0378)					CAGATCTTGGCAGAAAACCTC	0.423																																						ENST00000368152.1																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(26)|pancreas(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	41						c.(67-69)gCa>gAa		olfactory receptor, family 10, subfamily R, member 2							181	177	178					1																	158449735		2203	4300	6503	SO:0001583	missense	343406				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158449735C>A	AB065640	CCDS30898.1	1q23.1	2012-08-09			ENSG00000198965	ENSG00000198965		"GPCR / Class A : Olfactory receptors"	14820	protein-coding gene	gene with protein product							Standard	NM_001004472		Approved	OR10R2Q	uc010pik.2	Q8NGX6	OTTHUMG00000019632	ENST00000368152.1:c.68C>A	1.37:g.158449735C>A	ENSP00000357134:p.Ala23Glu					RP11-144L1.4_ENST00000426251.1_RNA|RP11-144L1.4_ENST00000419738.1_RNA	p.A23E	NM_001004472.1	NP_001004472.1	Q8NGX6	O10R2_HUMAN			1	68	+	all_hematologic(112;0.0378)		23					Q5VWM8|Q6IFS1|Q96R61	Missense_Mutation	SNP	ENST00000368152.1	37	c.68C>A	CCDS30898.1	.	.	.	.	.	.	.	.	.	.	c	0.071	-1.201824	0.01581	.	.	ENSG00000198965	ENST00000368152	T	0.00530	6.77	4.09	2.16	0.27623	.	.	.	.	.	T	0.00039	0.0001	N	0.02842	-0.48	0.23210	N	0.998118	B	0.11235	0.004	B	0.06405	0.002	T	0.19943	-1.0290	9	0.02654	T	1	.	7.3922	0.26915	0.1815:0.4657:0.3528:0.0	.	23	Q8NGX6	O10R2_HUMAN	E	23	ENSP00000357134:A23E	ENSP00000357134:A23E	A	+	2	0	OR10R2	156716359	0.000000	0.05858	0.730000	0.30809	0.457000	0.32468	-0.313000	0.08103	0.337000	0.23665	0.591000	0.81541	GCA		0.423	OR10R2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051847.2	NM_001004472		12	112	1	0	7.03913e-09	1	7.7032e-09	12	112					A	158449735	C	A	158449735	3	1	362	1	0	0	0	0	1	0	0	0	10917	710	25	5	70	5	OR10R2	1	158449735	Missense_Mutation	SNP	C	TCGA-QU-A6IO-01A-11D-A31L-08	712679	158449735	90800886	6	18092											
WNT3A	89780	broad.mit.edu	37	chr1	228238397	228238397	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtccacgccattgcctcagcCggtgtggcctttgcagtgac	5	10	12	14	2	1	1	1	1	0	0	2	1	2	1	5	2	3	1	5	2	0	2	rs151253698		TCGA-QU-A6IO-01A-11D-A31L-08	TCGA-QU-A6IO-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1610fca4-8d42-4e49-8bac-0e2f2d6bd7c4	3667be24-0cb9-4641-85f0-8d65e011d511	g.chr1:228238397C>T	ENST00000284523.1	+	3	432	c.354C>T	c.(352-354)gcC>gcT	p.A118A	WNT3A_ENST00000366753.2_Silent_p.A118A	NM_033131.3	NP_149122.1	P56704	WNT3A_HUMAN	wingless-type MMTV integration site family, member 3A	118					axis elongation involved in somitogenesis (GO:0090245)|axon guidance (GO:0007411)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in cardiac muscle cell fate commitment (GO:0061317)|cell proliferation in forebrain (GO:0021846)|cellular protein localization (GO:0034613)|cellular response to retinoic acid (GO:0071300)|COP9 signalosome assembly (GO:0010387)|dorsal/ventral neural tube patterning (GO:0021904)|extracellular matrix organization (GO:0030198)|heart looping (GO:0001947)|hemopoiesis (GO:0030097)|hippocampus development (GO:0021766)|in utero embryonic development (GO:0001701)|inner ear morphogenesis (GO:0042472)|mammary gland development (GO:0030879)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of heart induction by canonical Wnt signaling pathway (GO:0003136)|negative regulation of neurogenesis (GO:0050768)|negative regulation of neuron projection development (GO:0010977)|neuron differentiation (GO:0030182)|osteoblast differentiation (GO:0001649)|palate development (GO:0060021)|paraxial mesodermal cell fate commitment (GO:0048343)|platelet aggregation (GO:0070527)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of canonical Wnt signaling pathway involved in controlling type B pancreatic cell proliferation (GO:2000081)|positive regulation of cardiac muscle cell differentiation (GO:2000727)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-cell adhesion mediated by cadherin (GO:2000049)|positive regulation of collateral sprouting in absence of injury (GO:0048697)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of dermatome development (GO:0061184)|positive regulation of mesodermal cell fate specification (GO:0048337)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of receptor internalization (GO:0002092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|post-anal tail morphogenesis (GO:0036342)|regulation of microtubule cytoskeleton organization (GO:0070507)|skeletal muscle cell differentiation (GO:0035914)|spinal cord association neuron differentiation (GO:0021527)|Wnt signaling pathway involved in forebrain neuroblast division (GO:0021874)	cell surface (GO:0009986)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)|receptor agonist activity (GO:0048018)|transcription coactivator activity (GO:0003713)			kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)	12		Prostate(94;0.0405)				TTGCCTCAGCCGGTGTGGCCT	0.622																																						ENST00000284523.1																			0				kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)	12						c.(352-354)gcC>gcT		wingless-type MMTV integration site family, member 3A		C		0,4406		0,0,2203	109	84	92		354	-9.1	0.3	1	dbSNP_134	92	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	WNT3A	NM_033131.3		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		118/353	228238397	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	89780				axis specification|cell proliferation in forebrain|cell-cell signaling|cellular response to retinoic acid|convergent extension|dermatome development|dorsal/ventral neural tube patterning|embryonic pattern specification|extracellular matrix organization|hemopoietic stem cell proliferation|hippocampus development|inner ear morphogenesis|mammary gland development|midbrain-hindbrain boundary development|negative regulation of fat cell differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of neuron projection development|notochord development|palate development|paraxial mesodermal cell fate commitment|positive regulation of catenin import into nucleus|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein binding|positive regulation of receptor internalization|positive regulation of transcription from RNA polymerase II promoter|signalosome assembly|tail morphogenesis|Wnt receptor signaling pathway involved in forebrain neuroblast division|Wnt receptor signaling pathway, calcium modulating pathway	cell surface|early endosome|extracellular space|late endosome|membrane raft|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|frizzled-2 binding|receptor agonist activity|signal transducer activity|transcription coactivator activity	g.chr1:228238397C>T	AB060284	CCDS1564.1	1q42	2013-02-28			ENSG00000154342	ENSG00000154342		"Wingless-type MMTV integration sites", "Endogenous ligands"	15983	protein-coding gene	gene with protein product		606359				11414706	Standard	NM_033131		Approved		uc001hrq.2	P56704	OTTHUMG00000037593	ENST00000284523.1:c.354C>T	1.37:g.228238397C>T						WNT3A_ENST00000366753.2_Silent_p.A118A	p.A118A	NM_033131.3	NP_149122.1	P56704	WNT3A_HUMAN			3	432	+		Prostate(94;0.0405)	118					Q3SY79|Q3SY80|Q969P2	Silent	SNP	ENST00000284523.1	37	c.354C>T	CCDS1564.1																																																																																				0.622	WNT3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091648.1	NM_033131		18	15	0	0	0	1	0	18	15					T	228238397	C	T	228238397	2	4	362	1	0	0	0	0	0	0	0	1	17386	639	23	2		2	WNT3A	1	228238397	Silent	SNP	C	TCGA-QU-A6IO-01A-11D-A31L-08	69788662	228238397	21012224	7	18093											
TRIM67	440730	broad.mit.edu	37	chr1	231299652	231299652	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgaaatggagaactacagcAtgtactgcgtgagctgtcga	13	9	12	7	2	0	3	0	2	0	1	1	5	0	3	0	1	6	3	0	1	4	2			TCGA-QU-A6IO-01A-11D-A31L-08	TCGA-QU-A6IO-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1610fca4-8d42-4e49-8bac-0e2f2d6bd7c4	3667be24-0cb9-4641-85f0-8d65e011d511	g.chr1:231299652A>C	ENST00000366653.5	+	1	937	c.937A>C	c.(937-939)Atg>Ctg	p.M313L	TRIM67_ENST00000444294.3_Missense_Mutation_p.M313L|TRIM67_ENST00000449018.3_Missense_Mutation_p.M251L|TRIM67_ENST00000366652.2_Missense_Mutation_p.M313L			Q6ZTA4	TRI67_HUMAN	tripartite motif containing 67	313					negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	zinc ion binding (GO:0008270)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29	Breast(184;0.0871)	all_cancers(173;0.189)|Prostate(94;0.167)				GAACTACAGCATGTACTGCGT	0.672																																						ENST00000444294.3																			0				breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29						c.(937-939)Atg>Ctg		tripartite motif containing 67							19	23	22					1																	231299652		2058	4195	6253	SO:0001583	missense	440730					cytoplasm|cytoskeleton	zinc ion binding	g.chr1:231299652A>C	AK126782	CCDS44333.1, CCDS73048.1	1q42.2	2014-02-17	2011-01-25		ENSG00000119283	ENSG00000119283		"Tripartite motif containing / Tripartite motif containing", "Fibronectin type III domain containing", "RING-type (C3HC4) zinc fingers"	31859	protein-coding gene	gene with protein product		610584	"tripartite motif-containing 67"				Standard	NM_001004342		Approved	TNL	uc009xfn.1	Q6ZTA4	OTTHUMG00000037958	ENST00000366653.5:c.937A>C	1.37:g.231299652A>C	ENSP00000355613:p.Met313Leu					TRIM67_ENST00000366653.5_Missense_Mutation_p.M313L|TRIM67_ENST00000366652.2_Missense_Mutation_p.M313L|TRIM67_ENST00000449018.3_Missense_Mutation_p.M251L	p.M313L	NM_001004342.3	NP_001004342.3	Q6ZTA4	TRI67_HUMAN			1	1795	+	Breast(184;0.0871)	all_cancers(173;0.189)|Prostate(94;0.167)	313					Q5TER7|Q5TER8|Q7Z4K7	Missense_Mutation	SNP	ENST00000366653.5	37	c.937A>C	CCDS44333.1	.	.	.	.	.	.	.	.	.	.	A	13.79	2.341813	0.41498	.	.	ENSG00000119283	ENST00000444294;ENST00000366652;ENST00000449018;ENST00000366653	T;T;T;T	0.35789	1.29;1.29;1.29;1.29	4.58	4.58	0.56647	Zinc finger, B-box (3);	0.085670	0.85682	N	0.000000	T	0.27832	0.0685	N	0.21282	0.65	0.45477	D	0.998446	B	0.32939	0.391	B	0.39805	0.31	T	0.08513	-1.0718	10	0.27785	T	0.31	.	10.3016	0.43656	0.919:0.0:0.081:0.0	.	313	Q6ZTA4	TRI67_HUMAN	L	313;313;251;313	ENSP00000412124:M313L;ENSP00000355612:M313L;ENSP00000400163:M251L;ENSP00000355613:M313L	ENSP00000355612:M313L	M	+	1	0	TRIM67	229366275	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.323000	0.65858	1.915000	0.55452	0.459000	0.35465	ATG		0.672	TRIM67-001	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000092649.3	NM_001004342		3	6	0	0	0	1	0	3	6					C	231299652	A	C	231299652	3	2	362	1	0	0	0	0	1	0	0	0	16537	217	8	5	939	5	TRIM67	1	231299652	Missense_Mutation	SNP	A	TCGA-QU-A6IO-01A-11D-A31L-08	3061255	231299652	17950969	8	18094											
OR2T1	26696	broad.mit.edu	37	chr1	248569715	248569715	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	aattacctgctggatcaaagGaccatttcctttgtggggtg	9	13	11	8	0	1	0	1	0	0	0	2	2	2	2	3	4	2	1	3	4	3	3	rs369495545		TCGA-QU-A6IO-01A-11D-A31L-08	TCGA-QU-A6IO-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1610fca4-8d42-4e49-8bac-0e2f2d6bd7c4	3667be24-0cb9-4641-85f0-8d65e011d511	g.chr1:248569715G>A	ENST00000366474.1	+	1	420	c.420G>A	c.(418-420)agG>agA	p.R140R		NM_030904.1	NP_112166.1	O43869	OR2T1_HUMAN	olfactory receptor, family 2, subfamily T, member 1	140						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	39	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TGGATCAAAGGACCATTTCCT	0.478																																						ENST00000366474.1																			0				NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	39						c.(418-420)agG>agA		olfactory receptor, family 2, subfamily T, member 1		G		1,4405	2.1+/-5.4	0,1,2202	188	180	183		420	-8	0	1		183	0,8600		0,0,4300	no	coding-synonymous	OR2T1	NM_030904.1		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		140/370	248569715	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	26696				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248569715G>A	U86215	CCDS31115.1	1q44	2012-08-09			ENSG00000175143	ENSG00000175143		"GPCR / Class A : Olfactory receptors"	8277	protein-coding gene	gene with protein product						9500546	Standard	NM_030904		Approved	OR1-25	uc010pzm.2	O43869	OTTHUMG00000040450	ENST00000366474.1:c.420G>A	1.37:g.248569715G>A							p.R140R	NM_030904.1	NP_112166.1	O43869	OR2T1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	420	+	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		140					Q6IEZ9	Silent	SNP	ENST00000366474.1	37	c.420G>A	CCDS31115.1																																																																																				0.478	OR2T1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097346.2			15	144	0	0	0	1	0	15	144					A	248569715	G	A	248569715	2	1	362	1	0	0	0	0	0	0	0	1	11016	1165	41	3		3	OR2T1	1	248569715	Silent	SNP	G	TCGA-QU-A6IO-01A-11D-A31L-08	17270063	248569715	680906	9	18095											
FOXN2	3344	broad.mit.edu	37	chr2	48573435	48573435	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttgcaggattaagccagattTacaaaatgggaagcttgcct	13	11	10	7	0	0	1	0	0	0	1	0	3	0	3	2	2	5	2	2	2	5	5			TCGA-QU-A6IO-01A-11D-A31L-08	TCGA-QU-A6IO-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1610fca4-8d42-4e49-8bac-0e2f2d6bd7c4	3667be24-0cb9-4641-85f0-8d65e011d511	g.chr2:48573435T>C	ENST00000340553.3	+	3	343	c.82T>C	c.(82-84)Tac>Cac	p.Y28H		NM_002158.3	NP_002149.2	P32314	FOXN2_HUMAN	forkhead box N2	28					transcription, DNA-templated (GO:0006351)	intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	13		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.0272)|LUSC - Lung squamous cell carcinoma(58;0.036)			AAGCCAGATTTACAAAATGGG	0.463																																						ENST00000340553.3																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	13						c.(82-84)Tac>Cac		forkhead box N2							106	110	109					2																	48573435		2203	4300	6503	SO:0001583	missense	3344				embryo development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chr2:48573435T>C		CCDS1838.1	2p22-p16	2008-02-05	2006-10-02	2006-10-02	ENSG00000170802	ENSG00000170802		"Forkhead boxes"	5281	protein-coding gene	gene with protein product		143089	"human T-cell leukemia virus enhancer factor"	HTLF		1639393	Standard	NM_002158		Approved		uc002rwh.1	P32314	OTTHUMG00000129168	ENST00000340553.3:c.82T>C	2.37:g.48573435T>C	ENSP00000343633:p.Tyr28His						p.Y28H	NM_002158.3	NP_002149.2	P32314	FOXN2_HUMAN	Lung(47;0.0272)|LUSC - Lung squamous cell carcinoma(58;0.036)		3	343	+		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	28					Q15769|Q6P4Q2	Missense_Mutation	SNP	ENST00000340553.3	37	c.82T>C	CCDS1838.1	.	.	.	.	.	.	.	.	.	.	T	12.61	1.988961	0.35131	.	.	ENSG00000170802	ENST00000413569;ENST00000340553	D;D	0.95001	-3.58;-3.46	5.28	5.28	0.74379	.	0.232560	0.46442	D	0.000295	D	0.88089	0.6343	L	0.28400	0.85	0.31040	N	0.716462	B	0.06786	0.001	B	0.08055	0.003	T	0.81118	-0.1078	10	0.38643	T	0.18	.	4.455	0.11639	0.0:0.1208:0.1933:0.6859	.	28	P32314	FOXN2_HUMAN	H	28	ENSP00000388486:Y28H;ENSP00000343633:Y28H	ENSP00000343633:Y28H	Y	+	1	0	FOXN2	48426939	0.988000	0.35896	1.000000	0.80357	0.998000	0.95712	1.369000	0.34227	2.212000	0.71576	0.482000	0.46254	TAC		0.463	FOXN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251240.3	NM_002158		38	86	0	0	0	1	0	38	86					C	48573435	T	C	48573435	3	2	362	1	0	0	0	0	1	0	0	0	6020	1754	61	4	84	4	FOXN2	2	48573435	Missense_Mutation	SNP	T	TCGA-QU-A6IO-01A-11D-A31L-08		48573435	194625938	10	18096											
ANKRD36	375248	broad.mit.edu	37	chr2	97808401	97808401	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctcagaaacaaccagcctTgaaggtaattacacattcat	15	11	5	10	0	2	2	2	1	1	1	3	2	2	2	2	1	4	1	2	1	5	5			TCGA-QU-A6IO-01A-11D-A31L-08	TCGA-QU-A6IO-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1610fca4-8d42-4e49-8bac-0e2f2d6bd7c4	3667be24-0cb9-4641-85f0-8d65e011d511	g.chr2:97808401T>G	ENST00000461153.2	+	7	1068	c.824T>G	c.(823-825)tTg>tGg	p.L275W	ANKRD36_ENST00000420699.2_Missense_Mutation_p.L275W			A6QL64	AN36A_HUMAN	ankyrin repeat domain 36	275										endometrium(9)|kidney(5)|liver(1)|lung(3)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23						CAACCAGCCTTGAAGGTAATT	0.303																																						ENST00000420699.2																			0				endometrium(9)|kidney(5)|liver(1)|lung(3)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23						c.(823-825)tTg>tGg		ankyrin repeat domain 36							49	50	50					2																	97808401		692	1586	2278	SO:0001583	missense	375248							g.chr2:97808401T>G	BC046186	CCDS54379.1	2q11.2	2013-09-24			ENSG00000135976	ENSG00000135976		"Ankyrin repeat domain containing"	24079	protein-coding gene	gene with protein product						12975309	Standard	NM_001164315		Approved	UNQ2430	uc010yva.2	A6QL64	OTTHUMG00000155256	ENST00000461153.2:c.824T>G	2.37:g.97808401T>G	ENSP00000419530:p.Leu275Trp					ANKRD36_ENST00000461153.2_Missense_Mutation_p.L275W	p.L275W	NM_001164315.1	NP_001157787.1	A6QL64	AN36A_HUMAN			7	1068	+			275					B4E3I8|Q6UX02|Q86X62|Q9HCD1	Missense_Mutation	SNP	ENST00000461153.2	37	c.824T>G	CCDS54379.1	.	.	.	.	.	.	.	.	.	.	.	8.257	0.810372	0.16537	.	.	ENSG00000135976	ENST00000461153;ENST00000420699;ENST00000455519	T;T	0.78003	-1.14;-1.14	1.38	0.0353	0.14187	.	.	.	.	.	T	0.55016	0.1894	N	0.14661	0.345	0.24187	N	0.995569	B	0.28552	0.215	B	0.17722	0.019	T	0.42632	-0.9440	9	0.48119	T	0.1	.	4.1318	0.10152	0.0:0.0:0.3728:0.6272	.	275	A6QL64	AN36A_HUMAN	W	275	ENSP00000419530:L275W;ENSP00000391950:L275W	ENSP00000391950:L275W	L	+	2	0	ANKRD36	97172128	0.283000	0.24277	0.268000	0.24571	0.157000	0.22087	0.220000	0.17660	0.007000	0.14760	0.136000	0.15936	TTG		0.303	ANKRD36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339154.5			3	29	0	0	0	1	0	3	29					G	97808401	T	G	97808401	3	3	362	1	0	0	0	0	1	0	0	0	665	1821	63	5	850	5	ANKRD36	2	97808401	Missense_Mutation	SNP	T	TCGA-QU-A6IO-01A-11D-A31L-08	49234966	97808401	145390972	11	18097											
HOXD4	3233	broad.mit.edu	37	chr2	177016758	177016758	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cactcaagcagccggccgtgGtctacccctggatgaagaag	10	6	12	13	2	2	2	1	1	1	1	2	3	2	3	4	3	3	1	4	3	4	1			TCGA-QU-A6IO-01A-11D-A31L-08	TCGA-QU-A6IO-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1610fca4-8d42-4e49-8bac-0e2f2d6bd7c4	3667be24-0cb9-4641-85f0-8d65e011d511	g.chr2:177016758G>A	ENST00000306324.3	+	1	809	c.397G>A	c.(397-399)Gtc>Atc	p.V133I	HOXD3_ENST00000468418.3_5'UTR|MIR10B_ENST00000385011.1_RNA	NM_014621.2	NP_055436.2	P09016	HXD4_HUMAN	homeobox D4	133					multicellular organismal development (GO:0007275)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	9			OV - Ovarian serous cystadenocarcinoma(117;0.00765)|Epithelial(96;0.105)	Colorectal(32;0.0224)|READ - Rectum adenocarcinoma(9;0.0556)		GCCGGCCGTGGTCTACCCCTG	0.672																																						ENST00000306324.3																			0				kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	9						c.(397-399)Gtc>Atc		homeobox D4							37	47	44					2																	177016758		2134	4274	6408	SO:0001583	missense	3233					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:177016758G>A		CCDS2269.1	2q31.1	2011-06-20	2005-12-22		ENSG00000170166	ENSG00000170166		"Homeoboxes / ANTP class : HOXL subclass"	5138	protein-coding gene	gene with protein product		142981	"homeo box D4"	HOX4B, HOX4		1973146, 1358459	Standard	NM_014621		Approved		uc002uks.3	P09016	OTTHUMG00000132515	ENST00000306324.3:c.397G>A	2.37:g.177016758G>A	ENSP00000302548:p.Val133Ile					HOXD3_ENST00000468418.3_5'UTR	p.V133I	NM_014621.2	NP_055436.2	P09016	HXD4_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00765)|Epithelial(96;0.105)	Colorectal(32;0.0224)|READ - Rectum adenocarcinoma(9;0.0556)	1	809	+			133					B2R9R3|Q96AU0	Missense_Mutation	SNP	ENST00000306324.3	37	c.397G>A	CCDS2269.1	.	.	.	.	.	.	.	.	.	.	G	14.17	2.456909	0.43634	.	.	ENSG00000170166	ENST00000306324	D	0.90004	-2.6	3.98	3.98	0.46160	Homeobox protein, antennapedia type, conserved site (1);	0.000000	0.48286	U	0.000183	D	0.92734	0.7690	M	0.72118	2.19	0.80722	D	1	P	0.46952	0.887	P	0.57244	0.816	D	0.94000	0.7274	10	0.87932	D	0	.	16.4319	0.83847	0.0:0.0:1.0:0.0	.	133	P09016	HXD4_HUMAN	I	133	ENSP00000302548:V133I	ENSP00000302548:V133I	V	+	1	0	HOXD4	176725004	1.000000	0.71417	0.983000	0.44433	0.673000	0.39480	7.330000	0.79181	1.907000	0.55213	0.655000	0.94253	GTC		0.672	HOXD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255697.2			6	45	0	0	0	1	0	6	45					A	177016758	G	A	177016758	3	1	362	1	0	0	0	0	1	0	0	0	7324	1261	44	3	399	3	HOXD4	2	177016758	Missense_Mutation	SNP	G	TCGA-QU-A6IO-01A-11D-A31L-08	79208357	177016758	66182615	12	18098											
CPS1	1373	broad.mit.edu	37	chr2	211438054	211438054	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacattgtcctggaagatggAactaagatgaaaggttactc	14	10	10	7	0	0	3	0	1	0	2	2	5	1	5	1	3	2	1	1	3	5	3			TCGA-QU-A6IO-01A-11D-A31L-08	TCGA-QU-A6IO-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1610fca4-8d42-4e49-8bac-0e2f2d6bd7c4	3667be24-0cb9-4641-85f0-8d65e011d511	g.chr2:211438054A>T	ENST00000233072.5	+	2	355	c.159A>T	c.(157-159)ggA>ggT	p.G53G	CPS1_ENST00000430249.2_Silent_p.G59G	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN	carbamoyl-phosphate synthase 1, mitochondrial	53	Anthranilate phosphoribosyltransferase homolog.				anion homeostasis (GO:0055081)|carbamoyl phosphate biosynthetic process (GO:0070409)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to cAMP (GO:0071320)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to glucagon stimulus (GO:0071377)|cellular response to oleic acid (GO:0071400)|citrulline biosynthetic process (GO:0019240)|glutamine catabolic process (GO:0006543)|glycogen catabolic process (GO:0005980)|hepatocyte differentiation (GO:0070365)|homocysteine metabolic process (GO:0050667)|midgut development (GO:0007494)|nitric oxide metabolic process (GO:0046209)|positive regulation of vasodilation (GO:0045909)|response to amine (GO:0014075)|response to amino acid (GO:0043200)|response to dexamethasone (GO:0071548)|response to drug (GO:0042493)|response to food (GO:0032094)|response to growth hormone (GO:0060416)|response to lipopolysaccharide (GO:0032496)|response to starvation (GO:0042594)|response to toxic substance (GO:0009636)|response to zinc ion (GO:0010043)|small molecule metabolic process (GO:0044281)|triglyceride catabolic process (GO:0019433)|urea cycle (GO:0000050)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|carbamoyl-phosphate synthase (ammonia) activity (GO:0004087)|endopeptidase activity (GO:0004175)|glutamate binding (GO:0016595)|modified amino acid binding (GO:0072341)|phospholipid binding (GO:0005543)			breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)	Carglumic Acid(DB06775)	TGGAAGATGGAACTAAGATGA	0.418																																						ENST00000233072.5																			0				breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142						c.(157-159)ggA>ggT		carbamoyl-phosphate synthase 1, mitochondrial							210	199	203					2																	211438054		2203	4300	6503	SO:0001819	synonymous_variant	1373				carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity	g.chr2:211438054A>T	AF154830	CCDS2393.1, CCDS46505.1, CCDS46506.1	2p	2014-09-17	2010-05-11		ENSG00000021826	ENSG00000021826	6.3.4.16		2323	protein-coding gene	gene with protein product		608307	"carbamoyl-phosphate synthetase 1, mitochondrial"				Standard	NM_001122633		Approved		uc002vee.4	P31327	OTTHUMG00000132994	ENST00000233072.5:c.159A>T	2.37:g.211438054A>T						CPS1_ENST00000430249.2_Silent_p.G59G	p.G53G	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN		Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)	2	355	+			53			Anthranilate phosphoribosyltransferase homolog.		B7Z818|J3KQL0|O43774|Q53TL5|Q59HF8|Q7Z5I5	Silent	SNP	ENST00000233072.5	37	c.159A>T	CCDS2393.1																																																																																				0.418	CPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256569.5			35	67	0	0	0	1	0	35	67					T	211438054	A	T	211438054	2	4	362	1	0	0	0	0	0	0	0	1	3823	233	9	5		5	CPS1	2	211438054	Silent	SNP	A	TCGA-QU-A6IO-01A-11D-A31L-08	34421296	211438054	31761319	13	18099											
OGG1	4968	broad.mit.edu	37	chr3	9798825	9798825	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agaaagggttccaaagggccGgaaggctagatggggcaccc	12	4	16	9	1	0	2	0	0	0	2	1	3	1	3	3	6	0	3	3	6	4	2			TCGA-QU-A6IO-01A-11D-A31L-08	TCGA-QU-A6IO-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1610fca4-8d42-4e49-8bac-0e2f2d6bd7c4	3667be24-0cb9-4641-85f0-8d65e011d511	g.chr3:9798825G>A	ENST00000344629.7	+	7	1372	c.1029G>A	c.(1027-1029)ccG>ccA	p.P343P	OGG1_ENST00000349503.5_Intron|OGG1_ENST00000383826.5_Intron|OGG1_ENST00000449570.2_Intron|OGG1_ENST00000339511.5_3'UTR|OGG1_ENST00000302036.7_Intron|OGG1_ENST00000302003.7_Missense_Mutation_p.R349Q|OGG1_ENST00000302008.8_Intron			O15527	OGG1_HUMAN	8-oxoguanine DNA glycosylase	343					acute inflammatory response (GO:0002526)|base-excision repair (GO:0006284)|base-excision repair, AP site formation (GO:0006285)|cellular response to cadmium ion (GO:0071276)|depurination (GO:0045007)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleotide-excision repair (GO:0006289)|regulation of protein import into nucleus, translocation (GO:0033158)|regulation of transcription, DNA-templated (GO:0006355)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to folic acid (GO:0051593)|response to oxidative stress (GO:0006979)|response to radiation (GO:0009314)	mitochondrion (GO:0005739)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	8-oxo-7,8-dihydroguanine DNA N-glycosylase activity (GO:0034039)|damaged DNA binding (GO:0003684)|endonuclease activity (GO:0004519)|oxidized purine nucleobase lesion DNA N-glycosylase activity (GO:0008534)			kidney(2)|large_intestine(2)|lung(2)|skin(1)|urinary_tract(1)	8	Medulloblastoma(99;0.227)					CCAAAGGGCCGGAAGGCTAGA	0.602								Base excision repair (BER), DNA glycosylases																														ENST00000302003.7																			0				kidney(2)|large_intestine(2)|lung(2)|skin(1)|urinary_tract(1)	8						c.(1045-1047)cGg>cAg	Base excision repair (BER), DNA glycosylases	8-oxoguanine DNA glycosylase							90	97	95					3																	9798825		2203	4300	6503	SO:0001819	synonymous_variant	4968				depurination|nucleotide-excision repair|regulation of protein import into nucleus, translocation|regulation of transcription, DNA-dependent|response to oxidative stress|response to radiation	mitochondrion|nuclear matrix|nuclear speck	damaged DNA binding|endonuclease activity|oxidized purine base lesion DNA N-glycosylase activity|protein binding	g.chr3:9798825G>A	U96710	CCDS2576.1, CCDS2577.1, CCDS2578.1, CCDS2579.1, CCDS2580.1, CCDS2581.1, CCDS43046.1, CCDS46742.1	3p26	2010-11-23			ENSG00000114026	ENSG00000114026	3.2.2.-, 4.2.99.18		8125	protein-coding gene	gene with protein product	"8-hydroxyguanine DNA glycosylase", "OGG1 type 1e", "OGG1 type 1d", "OGG1 type 1g", "OGG1 type 1h"	601982				9207108, 10449904	Standard	NM_002542		Approved	HMMH, HOGG1, OGH1, MUTM	uc003bsj.3	O15527	OTTHUMG00000097091	ENST00000344629.7:c.1029G>A	3.37:g.9798825G>A						OGG1_ENST00000449570.2_Intron|OGG1_ENST00000383826.5_Intron|OGG1_ENST00000349503.5_Intron|OGG1_ENST00000344629.7_Silent_p.P343P|OGG1_ENST00000339511.5_3'UTR|OGG1_ENST00000302008.8_Intron|OGG1_ENST00000302036.7_Intron	p.R349Q	NM_002542.5|NM_016820.3	NP_002533.1|NP_058213.1	O15527	OGG1_HUMAN			7	1389	+	Medulloblastoma(99;0.227)		43					A8K1E3|O00390|O00670|O00705|O14876|O95488|P78554|Q9BW42|Q9UIK0|Q9UIK1|Q9UIK2|Q9UL34|Q9Y2C0|Q9Y2C1|Q9Y6C3|Q9Y6C4	Missense_Mutation	SNP	ENST00000344629.7	37	c.1046G>A	CCDS2581.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	3.702|3.702	-0.061381|-0.061381	0.07317|0.07317	.|.	.|.	ENSG00000114026|ENSG00000114026	ENST00000416333|ENST00000302003;ENST00000339542	.|T	.|0.60171	.|0.21	4.81|4.81	-9.63|-9.63	0.00544|0.00544	.|.	.|.	.|.	.|.	.|.	T|T	0.33990|0.33990	0.0882|0.0882	.|.	.|.	.|.	0.09310|0.09310	N|N	0.999998|0.999998	.|B;B;B;B	.|0.09022	.|0.001;0.001;0.002;0.001	.|B;B;B;B	.|0.04013	.|0.001;0.001;0.0;0.0	T|T	0.15263|0.15263	-1.0443|-1.0443	4|8	.|0.38643	.|T	.|0.18	.|.	3.8146|3.8146	0.08811|0.08811	0.107:0.1744:0.4407:0.2779|0.107:0.1744:0.4407:0.2779	.|.	.|136;120;349;349	.|F8WA07;Q9HCR8;O15527-3;E5KPN0	.|.;.;.;.	R|Q	116|349;136	.|ENSP00000305584:R349Q	.|ENSP00000305584:R349Q	G|R	+|+	1|2	0|0	OGG1|OGG1	9773825|9773825	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.005000|0.005000	0.04900|0.04900	-2.212000|-2.212000	0.01225|0.01225	-3.330000|-3.330000	0.00186|0.00186	-1.069000|-1.069000	0.02264|0.02264	GGA|CGG		0.602	OGG1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214223.2	NM_016821		4	128	0	0	0	1	0	4	128					A	9798825	G	A	9798825	2	1	362	1	0	0	0	0	0	0	0	1	10845	1116	39	2		2	OGG1	3	9798825	Silent	SNP	G	TCGA-QU-A6IO-01A-11D-A31L-08		9798825	188223605	14	18100											
EOMES	8320	broad.mit.edu	37	chr3	27761814	27761814	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agctcaagaaaggaaacatgCgcctgtgcaagggaatagaa	17	5	12	7	1	1	2	1	0	0	2	1	4	1	4	1	2	4	2	1	2	7	1			TCGA-QU-A6IO-01A-11D-A31L-08	TCGA-QU-A6IO-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1610fca4-8d42-4e49-8bac-0e2f2d6bd7c4	3667be24-0cb9-4641-85f0-8d65e011d511	g.chr3:27761814C>A	ENST00000295743.4	-	2	1087	c.884G>T	c.(883-885)cGc>cTc	p.R295L	EOMES_ENST00000449599.1_Missense_Mutation_p.R295L|EOMES_ENST00000461503.1_5'UTR|EOMES_ENST00000537516.1_5'UTR			O95936	EOMES_HUMAN	eomesodermin	295					brain development (GO:0007420)|cardioblast differentiation (GO:0010002)|CD8-positive, alpha-beta T cell differentiation involved in immune response (GO:0002302)|cell differentiation involved in embryonic placenta development (GO:0060706)|cerebral cortex neuron differentiation (GO:0021895)|cerebral cortex regionalization (GO:0021796)|endoderm formation (GO:0001706)|endodermal cell fate specification (GO:0001714)|interferon-gamma production (GO:0032609)|mesoderm formation (GO:0001707)|mesodermal to mesenchymal transition involved in gastrulation (GO:0060809)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|olfactory bulb development (GO:0021772)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of neuron differentiation (GO:0045664)|skeletal muscle cell differentiation (GO:0035914)|stem cell maintenance (GO:0019827)|trophectodermal cell differentiation (GO:0001829)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(3)|prostate(1)	21						AGGAAACATGCGCCTGTGCAA	0.532																																						ENST00000295743.4																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(3)|prostate(1)	21						c.(883-885)cGc>cTc		eomesodermin							92	97	95					3																	27761814		2203	4300	6503	SO:0001583	missense	8320				CD8-positive, alpha-beta T cell differentiation involved in immune response|cell differentiation involved in embryonic placenta development|endoderm formation|mesoderm formation|mesodermal to mesenchymal transition involved in gastrulation|positive regulation of transcription, DNA-dependent	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr3:27761814C>A	BC025363	CCDS2646.1, CCDS63585.1	3p24.1	2011-06-13	2010-06-24		ENSG00000163508	ENSG00000163508		"T-boxes"	3372	protein-coding gene	gene with protein product	"T-box brain2"	604615	"eomesodermin (Xenopus laevis) homolog"			9888994, 9434949	Standard	NM_005442		Approved	TBR2	uc003cdy.4	O95936	OTTHUMG00000130570	ENST00000295743.4:c.884G>T	3.37:g.27761814C>A	ENSP00000295743:p.Arg295Leu					EOMES_ENST00000537516.1_5'UTR|EOMES_ENST00000449599.1_Missense_Mutation_p.R295L|EOMES_ENST00000461503.1_5'UTR	p.R295L			O95936	EOMES_HUMAN			2	1087	-			295					B7Z4I2|B7ZA51|G3XAI5|Q8TAZ2|Q9UPM7	Missense_Mutation	SNP	ENST00000295743.4	37	c.884G>T	CCDS2646.1	.	.	.	.	.	.	.	.	.	.	C	33	5.217551	0.95104	.	.	ENSG00000163508	ENST00000295743;ENST00000449599;ENST00000535713	D;D	0.91124	-2.79;-2.79	4.74	4.74	0.60224	Transcription factor, T-box, conserved site (1);p53-like transcription factor, DNA-binding (1);	0.000000	0.85682	D	0.000000	D	0.96068	0.8719	M	0.89478	3.035	0.80722	D	1	D;D;D	0.89917	1.0;0.999;0.999	D;D;D	0.85130	0.997;0.962;0.983	D	0.96857	0.9629	10	0.87932	D	0	.	17.9174	0.88955	0.0:1.0:0.0:0.0	.	295;295;295	F5H3K1;G3XAI5;O95936	.;.;EOMES_HUMAN	L	295;295;160	ENSP00000295743:R295L;ENSP00000388620:R295L	ENSP00000295743:R295L	R	-	2	0	EOMES	27736818	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	7.590000	0.82653	2.449000	0.82847	0.563000	0.77884	CGC		0.532	EOMES-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252995.1	NM_005442		12	124	1	0	0.000151284	1	0.000162491	12	124					A	27761814	C	A	27761814	3	1	362	1	0	0	0	0	1	0	0	0	5147	768	27	5	1196	5	EOMES	3	27761814	Missense_Mutation	SNP	C	TCGA-QU-A6IO-01A-11D-A31L-08	17962989	27761814	170260616	15	18101											
YEATS2	55689	broad.mit.edu	37	chr3	183521930	183521930	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgagagcctgaggaatgaCggggactccatcgaggacgt	10	6	15	10	3	0	3	0	3	0	1	2	8	1	6	3	4	1	0	3	4	1	0	rs192649831	byFrequency	TCGA-QU-A6IO-01A-11D-A31L-08	TCGA-QU-A6IO-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1610fca4-8d42-4e49-8bac-0e2f2d6bd7c4	3667be24-0cb9-4641-85f0-8d65e011d511	g.chr3:183521930C>T	ENST00000305135.5	+	27	3933	c.3738C>T	c.(3736-3738)gaC>gaT	p.D1246D	AC131160.1_ENST00000401347.1_RNA|YEATS2-AS1_ENST00000425008.3_RNA	NM_018023.4	NP_060493.3	Q9ULM3	YETS2_HUMAN	YEATS domain containing 2	1246					chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|mitotic spindle (GO:0072686)	TBP-class protein binding (GO:0017025)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(24)|ovary(3)|prostate(2)|skin(3)	49	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		all cancers(12;2.38e-42)|Epithelial(37;1.9e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			TGAGGAATGACGGGGACTCCA	0.617													C|||	19	0.00379393	0.0144	0	5008	,	,		15969	0		0	False		,,,				2504	0					ENST00000305135.5																			0				NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(24)|ovary(3)|prostate(2)|skin(3)	49						c.(3736-3738)gaC>gaT		YEATS domain containing 2		C		30,4164		1,28,2068	95	96	96		3738	-11.5	0	3		96	0,8448		0,0,4224	no	coding-synonymous	YEATS2	NM_018023.4		1,28,6292	TT,TC,CC		0.0,0.7153,0.2373		1246/1423	183521930	30,12612	2097	4224	6321	SO:0001819	synonymous_variant	55689				histone H3 acetylation|negative regulation of transcription from RNA polymerase II promoter	Ada2/Gcn5/Ada3 transcription activator complex	TBP-class protein binding	g.chr3:183521930C>T	AB033023	CCDS43175.1	3q27.3	2004-08-18			ENSG00000163872	ENSG00000163872			25489	protein-coding gene	gene with protein product		613373				10574462	Standard	NM_018023		Approved	FLJ10201, FLJ12841, FLJ13308, KIAA1197	uc003fly.2	Q9ULM3	OTTHUMG00000156898	ENST00000305135.5:c.3738C>T	3.37:g.183521930C>T							p.D1246D	NM_018023.4	NP_060493.3	Q9ULM3	YETS2_HUMAN	all cancers(12;2.38e-42)|Epithelial(37;1.9e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)		27	3933	+	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		1246					A7E2B9|D3DNS9|Q641P6|Q9NW96	Silent	SNP	ENST00000305135.5	37	c.3738C>T	CCDS43175.1																																																																																				0.617	YEATS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346507.2	NM_018023		4	156	0	0	0	1	0	4	156					T	183521930	C	T	183521930	2	4	362	1	0	0	0	0	0	0	0	1	17469	535	19	1		1	YEATS2	3	183521930	Silent	SNP	C	TCGA-QU-A6IO-01A-11D-A31L-08	155760116	183521930	14500500	16	18102											
PCDHGA2	56113	broad.mit.edu	37	chr5	140719242	140719242	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctgcgtgaaggtcctggatgCgaacgacaatgcgcctgttt	8	10	13	10	4	0	1	0	1	0	0	1	4	1	2	2	2	4	1	2	2	3	1			TCGA-QU-A6IO-01A-11D-A31L-08	TCGA-QU-A6IO-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1610fca4-8d42-4e49-8bac-0e2f2d6bd7c4	3667be24-0cb9-4641-85f0-8d65e011d511	g.chr5:140719242C>T	ENST00000394576.2	+	1	704	c.704C>T	c.(703-705)gCg>gTg	p.A235V	PCDHGA1_ENST00000517417.1_Intron	NM_018915.2	NP_061738.1	Q9Y5H1	PCDG2_HUMAN	protocadherin gamma subfamily A, 2	235	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.A235V(2)		breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTCCTGGATGCGAACGACAAT	0.592																																						ENST00000394576.2																			2	Substitution - Missense(2)	p.A235V(2)	endometrium(2)	breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77						c.(703-705)gCg>gTg									79	76	77					5																	140719242		2203	4300	6503	SO:0001583	missense	0							g.chr5:140719242C>T	AF152508	CCDS47289.1	5q31	2011-03-28			ENSG00000081853	ENSG00000081853		"Cadherins / Protocadherins : Clustered"	8700	other	protocadherin		606289				10380929	Standard	NM_018915		Approved	PCDH-GAMMA-A2		Q9Y5H1	OTTHUMG00000163679	ENST00000394576.2:c.704C>T	5.37:g.140719242C>T	ENSP00000378077:p.Ala235Val					PCDHGA1_ENST00000517417.1_Intron	p.A235V	NM_018915.2	NP_061738.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	704	+								Q52LL6|Q9Y5D5	Missense_Mutation	SNP	ENST00000394576.2	37	c.704C>T	CCDS47289.1	.	.	.	.	.	.	.	.	.	.	.	8.887	0.953099	0.18431	.	.	ENSG00000081853	ENST00000394576	T	0.01474	4.85	5.26	-10.4	0.00318	Cadherin (3);Cadherin conserved site (1);Cadherin-like (1);	0.928232	0.08768	N	0.896762	T	0.01287	0.0042	N	0.10733	0.035	0.09310	N	0.999994	B;B	0.21452	0.002;0.056	B;B	0.17979	0.02;0.014	T	0.47636	-0.9102	10	0.30078	T	0.28	.	23.0939	0.99979	0.0:0.8191:0.0:0.1809	.	235;235	Q9Y5H1-2;Q9Y5H1	.;PCDG2_HUMAN	V	235	ENSP00000378077:A235V	ENSP00000378077:A235V	A	+	2	0	PCDHGA2	140699426	0.000000	0.05858	0.001000	0.08648	0.262000	0.26303	-2.508000	0.00960	-1.868000	0.01142	-0.238000	0.12139	GCG		0.592	PCDHGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374738.1	NM_018915		4	81	0	0	0	1	0	4	81					T	140719242	C	T	140719242	3	4	362	1	0	0	0	0	1	0	0	0	11554	768	27	1	706	1	PCDHGA2	5	140719242	Missense_Mutation	SNP	C	TCGA-QU-A6IO-01A-11D-A31L-08		140719242	40196018	17	18103											
TNIP1	10318	broad.mit.edu	37	chr5	150415234	150415234	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcatgcgctcacgatcactgCgctccctctggaagtcctcc	6	10	8	17	3	4	0	3	0	1	0	7	2	7	1	3	1	2	2	3	1	1	0			TCGA-QU-A6IO-01A-11D-A31L-08	TCGA-QU-A6IO-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1610fca4-8d42-4e49-8bac-0e2f2d6bd7c4	3667be24-0cb9-4641-85f0-8d65e011d511	g.chr5:150415234C>T	ENST00000389378.2	-	14	2018	c.1430G>A	c.(1429-1431)cGc>cAc	p.R477H	TNIP1_ENST00000521423.1_Intron|TNIP1_ENST00000524280.1_Missense_Mutation_p.R477H|TNIP1_ENST00000522226.1_Missense_Mutation_p.R477H|TNIP1_ENST00000315050.7_Missense_Mutation_p.R477H|TNIP1_ENST00000520931.1_Missense_Mutation_p.R424H|TNIP1_ENST00000523338.1_Missense_Mutation_p.R477H|TNIP1_ENST00000521591.1_Missense_Mutation_p.R477H|TNIP1_ENST00000523200.1_Missense_Mutation_p.R477H|TNIP1_ENST00000518977.1_Missense_Mutation_p.R477H	NM_001252385.1|NM_001252393.1|NM_001258454.1|NM_006058.4	NP_001239314.1|NP_001239322.1|NP_001245383.1|NP_006049.3	Q15025	TNIP1_HUMAN	TNFAIP3 interacting protein 1	477	Required for inhibitory activity of TNF- induced NF-kappa-B activation. {ECO:0000250}.|Ubiquitin-binding domain (UBD).				defense response (GO:0006952)|glycoprotein biosynthetic process (GO:0009101)|inflammatory response (GO:0006954)|leukocyte cell-cell adhesion (GO:0007159)|modulation by symbiont of host I-kappaB kinase/NF-kappaB cascade (GO:0085032)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of viral genome replication (GO:0045071)|positive regulation of inflammatory response (GO:0050729)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|translation (GO:0006412)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634)	mitogen-activated protein kinase binding (GO:0051019)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(1)|lung(5)|ovary(2)|prostate(2)|skin(3)	23		Medulloblastoma(196;0.0911)|all_hematologic(541;0.207)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ACGATCACTGCGCTCCCTCTG	0.577																																						ENST00000389378.2																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(1)|lung(5)|ovary(2)|prostate(2)|skin(3)	23						c.(1429-1431)cGc>cAc		TNFAIP3 interacting protein 1							132	110	117					5																	150415234		2203	4300	6503	SO:0001583	missense	10318				defense response|glycoprotein biosynthetic process|negative regulation of viral genome replication|translation	cytoplasm|nucleus	protein binding	g.chr5:150415234C>T	AJ011895	CCDS34280.1, CCDS58982.1, CCDS58983.1, CCDS58984.1, CCDS58985.1, CCDS75359.1	5q32-q33.1	2008-07-18							16903	protein-coding gene	gene with protein product	"virion-associated nuclear-shuttling protein", "Nef-associated factor 1 SNP"	607714				9923610, 11090181	Standard	NM_001252385		Approved	NAF1, KIAA0113, ABIN-1, VAN	uc003ltj.3	Q15025		ENST00000389378.2:c.1430G>A	5.37:g.150415234C>T	ENSP00000374029:p.Arg477His					TNIP1_ENST00000315050.7_Missense_Mutation_p.R477H|TNIP1_ENST00000523338.1_Missense_Mutation_p.R477H|TNIP1_ENST00000521423.1_Intron|TNIP1_ENST00000518977.1_Missense_Mutation_p.R477H|TNIP1_ENST00000521591.1_Missense_Mutation_p.R477H|TNIP1_ENST00000524280.1_Missense_Mutation_p.R477H|TNIP1_ENST00000520931.1_Missense_Mutation_p.R424H|TNIP1_ENST00000523200.1_Missense_Mutation_p.R477H|TNIP1_ENST00000522226.1_Missense_Mutation_p.R477H	p.R477H	NM_001252385.1|NM_001252393.1|NM_001258454.1|NM_006058.4	NP_001239314.1|NP_001239322.1|NP_001245383.1|NP_006049.3	Q15025	TNIP1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		14	2018	-		Medulloblastoma(196;0.0911)|all_hematologic(541;0.207)	477					A4F1W8|A4F1W9|A4F1X2|A4F1X4|A4F1X5|A4F1X6|A4F1X7|A4F1X9|B7Z699|E7EPY1|E7ET96|O76008|Q05KP3|Q05KP4|Q6N077|Q96EL9|Q99833|Q9H1J3	Missense_Mutation	SNP	ENST00000389378.2	37	c.1430G>A	CCDS34280.1	.	.	.	.	.	.	.	.	.	.	C	24.7	4.555889	0.86231	.	.	ENSG00000145901	ENST00000520931;ENST00000389378;ENST00000517504;ENST00000315050;ENST00000523338;ENST00000544828;ENST00000417127;ENST00000539213;ENST00000522226;ENST00000521591;ENST00000518977;ENST00000524280;ENST00000523200;ENST00000545840	D;D;D;D;D;D;D;D;D;D	0.97850	-4.57;-4.57;-4.57;-4.57;-4.57;-4.57;-4.57;-4.57;-4.57;-4.57	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	D	0.98770	0.9586	M	0.83953	2.67	0.58432	D	0.999994	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	0.999;0.999;0.998;0.999;0.999;1.0;1.0	D	0.99804	1.1037	10	0.72032	D	0.01	-17.6481	18.4383	0.90654	0.0:1.0:0.0:0.0	.	477;431;431;477;477;477;477	B7Z8K2;A4F1X9;A4F1X7;E7EPY1;E7ET96;A4F1W9;Q15025	.;.;.;.;.;.;TNIP1_HUMAN	H	424;477;90;477;477;434;434;439;477;477;477;477;477;434	ENSP00000429891:R424H;ENSP00000374029:R477H;ENSP00000430739:R90H;ENSP00000317891:R477H;ENSP00000428243:R477H;ENSP00000428187:R477H;ENSP00000430760:R477H;ENSP00000430971:R477H;ENSP00000429912:R477H;ENSP00000431105:R477H	ENSP00000317891:R477H	R	-	2	0	TNIP1	150395427	1.000000	0.71417	1.000000	0.80357	0.547000	0.35210	7.120000	0.77153	2.579000	0.87056	0.561000	0.74099	CGC		0.577	TNIP1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374914.1	NM_006058		4	84	0	0	0	1	0	4	84					T	150415234	C	T	150415234	3	4	362	1	0	0	0	0	1	0	0	0	16311	768	27	1	500	1	TNIP1	5	150415234	Missense_Mutation	SNP	C	TCGA-QU-A6IO-01A-11D-A31L-08	9695992	150415234	30500026	18	18104											
SIRT5	23408	broad.mit.edu	37	chr6	13592062	13592062	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagggccggcgagtcgtggtCatcacccagaacatcgatga	10	6	13	12	4	2	2	2	1	0	1	4	4	2	2	2	3	1	0	2	3	1	0			TCGA-QU-A6IO-01A-11D-A31L-08	TCGA-QU-A6IO-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1610fca4-8d42-4e49-8bac-0e2f2d6bd7c4	3667be24-0cb9-4641-85f0-8d65e011d511	g.chr6:13592062C>A	ENST00000606117.1	+	5	707	c.411C>A	c.(409-411)gtC>gtA	p.V137V	SIRT5_ENST00000359782.3_Silent_p.V137V|SIRT5_ENST00000379262.4_Silent_p.V137V|SIRT5_ENST00000397350.2_Silent_p.V29V	NM_012241.4	NP_036373.1			sirtuin 5											breast(1)|endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	11	Breast(50;0.00669)|Ovarian(93;0.0634)	all_hematologic(90;0.117)	Epithelial(50;0.176)			GAGTCGTGGTCATCACCCAGA	0.652																																						ENST00000606117.1																			0				breast(1)|endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	11						c.(409-411)gtC>gtA		sirtuin 5	Suramin(DB04786)						51	50	50					6																	13592062		2203	4300	6503	SO:0001819	synonymous_variant	23408				chromatin silencing|protein ADP-ribosylation|protein deacetylation	mitochondrial intermembrane space|mitochondrial matrix	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides|NAD+ ADP-ribosyltransferase activity|NAD+ binding|zinc ion binding	g.chr6:13592062C>A	AF083110	CCDS4526.1, CCDS4527.1, CCDS54966.1, CCDS56398.1	6p23	2010-08-05	2010-06-25		ENSG00000124523	ENSG00000124523			14933	protein-coding gene	gene with protein product		604483	"sirtuin (silent mating type information regulation 2, S.cerevisiae, homolog) 5", "sirtuin (silent mating type information regulation 2 homolog) 5 (S. cerevisiae)"			10381378	Standard	NM_012241		Approved		uc003nay.3	Q9NXA8	OTTHUMG00000014278	ENST00000606117.1:c.411C>A	6.37:g.13592062C>A						SIRT5_ENST00000359782.3_Silent_p.V137V|SIRT5_ENST00000379262.4_Silent_p.V137V|SIRT5_ENST00000397350.2_Silent_p.V29V	p.V137V	NM_012241.4	NP_036373.1	Q9NXA8	SIRT5_HUMAN	Epithelial(50;0.176)		5	707	+	Breast(50;0.00669)|Ovarian(93;0.0634)	all_hematologic(90;0.117)	137			Deacetylase sirtuin-type.			Silent	SNP	ENST00000606117.1	37	c.411C>A	CCDS4526.1																																																																																				0.652	SIRT5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039908.2			13	46	1	0	1.33834e-09	1	1.49276e-09	13	46					A	13592062	C	A	13592062	2	1	362	1	0	0	0	0	0	0	0	1	14341	813	29	5		5	SIRT5	6	13592062	Silent	SNP	C	TCGA-QU-A6IO-01A-11D-A31L-08		13592062	157523005	19	18105											
DEFB110	245913	broad.mit.edu	37	chr6	49986788	49986788	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acattgaccattacctattcTgcactctctcctcaagtcca	10	13	3	15	0	3	1	1	1	2	0	6	1	5	1	4	0	2	1	4	0	3	4			TCGA-QU-A6IO-01A-11D-A31L-08	TCGA-QU-A6IO-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1610fca4-8d42-4e49-8bac-0e2f2d6bd7c4	3667be24-0cb9-4641-85f0-8d65e011d511	g.chr6:49986788T>G	ENST00000371148.2	-	2	151	c.106A>C	c.(106-108)Aga>Cga	p.R36R	DEFB110_ENST00000393660.2_Intron	NM_001037497.1	NP_001032586.1	Q30KQ9	DB110_HUMAN	defensin, beta 110 locus	36					defense response to bacterium (GO:0042742)	extracellular region (GO:0005576)				endometrium(1)|lung(1)|ovary(1)	3	Lung NSC(77;0.042)					TTACCTATTCTGCACTCTCTC	0.393																																						ENST00000371148.2																			0				endometrium(1)|lung(1)|ovary(1)	3						c.(106-108)Aga>Cga		defensin, beta 110 locus							176	158	164					6																	49986788		2203	4300	6503	SO:0001819	synonymous_variant	245913				defense response to bacterium	extracellular region		g.chr6:49986788T>G	DQ012014, BC148541	CCDS43473.1, CCDS34475.1	6p12.3	2010-11-26	2010-11-26		ENSG00000203970	ENSG00000203970		"Defensins, beta"	18091	protein-coding gene	gene with protein product			"defensin, beta 110"			11854508, 16033865	Standard	NM_001037728		Approved	DEFB-10, DEFB-11, DEFB111	uc003pac.3	Q30KQ9	OTTHUMG00000160208	ENST00000371148.2:c.106A>C	6.37:g.49986788T>G						DEFB110_ENST00000393660.2_Intron	p.R36R	NM_001037497.1	NP_001032586.1	Q30KQ9	DB110_HUMAN			2	151	-	Lung NSC(77;0.042)		36					Q30KR0	Silent	SNP	ENST00000371148.2	37	c.106A>C	CCDS34475.1																																																																																				0.393	DEFB110-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359664.1	NM_001037728		18	47	0	0	0	1	0	18	47					G	49986788	T	G	49986788	2	3	362	1	0	0	0	0	0	0	0	1	4400	1588	55	5		5	DEFB110	6	49986788	Silent	SNP	T	TCGA-QU-A6IO-01A-11D-A31L-08	36394726	49986788	121128279	20	18106											
SENP6	26054	broad.mit.edu	37	chr6	76373050	76373050	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aagtcacaaaacacaggattAacaaccaagaagttttatgg	19	8	7	7	0	1	1	1	0	0	1	1	2	1	2	1	2	3	1	1	2	8	3			TCGA-QU-A6IO-01A-11D-A31L-08	TCGA-QU-A6IO-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1610fca4-8d42-4e49-8bac-0e2f2d6bd7c4	3667be24-0cb9-4641-85f0-8d65e011d511	g.chr6:76373050A>G	ENST00000447266.2	+	9	1288	c.810A>G	c.(808-810)ttA>ttG	p.L270L	SENP6_ENST00000370014.3_Silent_p.L270L|SENP6_ENST00000327284.8_Silent_p.L263L|SENP6_ENST00000370010.2_Silent_p.L263L	NM_015571.2	NP_056386.2	Q9GZR1	SENP6_HUMAN	SUMO1/sentrin specific peptidase 6	270					protein desumoylation (GO:0016926)|protein modification by small protein removal (GO:0070646)|protein sumoylation (GO:0016925)|regulation of kinetochore assembly (GO:0090234)|regulation of spindle assembly (GO:0090169)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	SUMO-specific protease activity (GO:0016929)			breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(12)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_hematologic(105;0.189)				ACACAGGATTAACAACCAAGA	0.343																																						ENST00000370014.3																			0				breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(12)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(808-810)ttA>ttG		SUMO1/sentrin specific peptidase 6							119	114	115					6																	76373050		1850	4100	5950	SO:0001819	synonymous_variant	26054				proteolysis	cytoplasm|nucleus	cysteine-type peptidase activity	g.chr6:76373050A>G		CCDS43483.1, CCDS47454.1	6q13-q14.3	2008-02-05	2005-08-17		ENSG00000112701	ENSG00000112701			20944	protein-coding gene	gene with protein product		605003	"SUMO1/sentrin specific protease 6"				Standard	NM_015571		Approved	SUSP1, KIAA0797	uc003pid.4	Q9GZR1	OTTHUMG00000015060	ENST00000447266.2:c.810A>G	6.37:g.76373050A>G						SENP6_ENST00000370010.2_Silent_p.L263L|SENP6_ENST00000327284.8_Silent_p.L263L|SENP6_ENST00000447266.2_Silent_p.L270L	p.L270L	NM_001100409.1	NP_001093879.1	Q9GZR1	SENP6_HUMAN			9	1429	+		all_hematologic(105;0.189)	270					A6NNY9|O94891|Q5VUL3|Q5VUL4|Q8TBY4|Q9UJV5	Silent	SNP	ENST00000447266.2	37	c.810A>G	CCDS47454.1																																																																																				0.343	SENP6-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041272.2	NM_015571		15	66	0	0	0	1	0	15	66					G	76373050	A	G	76373050	2	3	362	1	0	0	0	0	0	0	0	1	14050	359	13	4		4	SENP6	6	76373050	Silent	SNP	A	TCGA-QU-A6IO-01A-11D-A31L-08	26386262	76373050	94742017	21	18107											
MYST3	7994	broad.mit.edu	37	chr8	41836190	41836190	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtttctttaacctgttttttGgacgtcctattggattagta	7	20	8	6	1	1	0	0	0	1	0	2	2	2	2	2	2	1	3	2	2	4	10			TCGA-QU-A6IO-01A-11D-A31L-08	TCGA-QU-A6IO-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1610fca4-8d42-4e49-8bac-0e2f2d6bd7c4	3667be24-0cb9-4641-85f0-8d65e011d511	g.chr8:41836190G>A	ENST00000396930.3	-	7	1556	c.1013C>T	c.(1012-1014)cCa>cTa	p.P338L	KAT6A_ENST00000265713.2_Missense_Mutation_p.P338L|KAT6A_ENST00000406337.1_Missense_Mutation_p.P338L|KAT6A_ENST00000485568.1_Missense_Mutation_p.P338L	NM_001099412.1	NP_001092882.1	Q92794	KAT6A_HUMAN	K(lysine) acetyltransferase 6A	338	Interaction with PML.|Interaction with RUNX1-1.				aorta morphogenesis (GO:0035909)|cellular senescence (GO:0090398)|chromatin organization (GO:0006325)|DNA packaging (GO:0006323)|embryonic hemopoiesis (GO:0035162)|face morphogenesis (GO:0060325)|heart morphogenesis (GO:0003007)|histone acetylation (GO:0016573)|histone H3 acetylation (GO:0043966)|myeloid cell differentiation (GO:0030099)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive regulation of transcription, DNA-templated (GO:0045893)|protein acetylation (GO:0006473)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	Golgi apparatus (GO:0005794)|MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|PML body (GO:0016605)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.P338Q(1)									CCTGTTTTTTGGACGTCCTAT	0.403																																						ENST00000396930.3																			1	Substitution - Missense(1)	p.P338Q(1)	lung(1)								c.(1012-1014)cCa>cTa		K(lysine) acetyltransferase 6A							336	332	333					8																	41836190		2203	4300	6503	SO:0001583	missense	7994				histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding	g.chr8:41836190G>A	U47742	CCDS6124.1	8p11	2013-01-28	2011-07-21	2011-07-21	ENSG00000083168	ENSG00000083168		"Chromatin-modifying enzymes / K-acetyltransferases", "Zinc fingers, C2HC-type containing", "Zinc fingers, PHD-type"	13013	protein-coding gene	gene with protein product	"Monocytic leukemia zinc finger protein"	601408	"runt-related transcription factor binding protein 2", "MYST histone acetyltransferase (monocytic leukemia) 3"	ZNF220, RUNXBP2, MYST3		8849440, 8782817	Standard	NM_001099412		Approved	MOZ, ZC2HC6A	uc003xon.4	Q92794	OTTHUMG00000150453	ENST00000396930.3:c.1013C>T	8.37:g.41836190G>A	ENSP00000380136:p.Pro338Leu					KAT6A_ENST00000406337.1_Missense_Mutation_p.P338L|KAT6A_ENST00000485568.1_Missense_Mutation_p.P338L|KAT6A_ENST00000265713.2_Missense_Mutation_p.P338L	p.P338L	NM_001099412.1	NP_001092882.1	Q92794	MYST3_HUMAN			7	1556	-			338			Interaction with RUNX1-1.		Q76L81	Missense_Mutation	SNP	ENST00000396930.3	37	c.1013C>T	CCDS6124.1	.	.	.	.	.	.	.	.	.	.	G	16.74	3.208151	0.58343	.	.	ENSG00000083168	ENST00000265713;ENST00000406337;ENST00000396930;ENST00000485568	T;T;T;D	0.84873	0.1;0.1;0.1;-1.91	5.47	5.47	0.80525	.	0.154327	0.45606	D	0.000345	D	0.90834	0.7121	L	0.49778	1.585	0.80722	D	1	D;D	0.89917	0.969;1.0	P;D	0.85130	0.621;0.997	D	0.91313	0.5076	10	0.72032	D	0.01	-5.383	19.4191	0.94713	0.0:0.0:1.0:0.0	.	338;338	A5PLL3;Q92794	.;KAT6A_HUMAN	L	338	ENSP00000265713:P338L;ENSP00000385888:P338L;ENSP00000380136:P338L;ENSP00000430606:P338L	ENSP00000265713:P338L	P	-	2	0	KAT6A	41955347	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.471000	0.97696	2.572000	0.86782	0.644000	0.83932	CCA		0.403	KAT6A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318163.1	NM_006766		61	163	0	0	0	1	0	61	163					A	41836190	G	A	41836190	3	1	362	1	0	0	0	0	1	0	0	0	10104	1348	47	3	5049	3	MYST3	8	41836190	Missense_Mutation	SNP	G	TCGA-QU-A6IO-01A-11D-A31L-08		41836190	104527832	22	18108											
PTRH1	138428	broad.mit.edu	37	chr9	130477855	130477855	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccccggggggcgaggctccaAaacacatcggctcatggctc	8	5	13	15	3	1	0	1	0	0	0	4	1	2	0	3	6	1	3	3	6	2	0			TCGA-QU-A6IO-01A-11D-A31L-08	TCGA-QU-A6IO-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1610fca4-8d42-4e49-8bac-0e2f2d6bd7c4	3667be24-0cb9-4641-85f0-8d65e011d511	g.chr9:130477855A>G	ENST00000419060.1	-	2	1520	c.64T>C	c.(64-66)Ttg>Ctg	p.L22L	PTRH1_ENST00000429848.1_5'Flank|TTC16_ENST00000373289.3_5'Flank|C9orf117_ENST00000464092.1_3'UTR|PTRH1_ENST00000543175.1_Silent_p.L22L|TTC16_ENST00000393748.4_5'Flank|C9orf117_ENST00000373293.5_3'UTR|PTRH1_ENST00000423807.1_Silent_p.L22L			Q86Y79	PTH_HUMAN	peptidyl-tRNA hydrolase 1 homolog (S. cerevisiae)	22						mitochondrion (GO:0005739)	aminoacyl-tRNA hydrolase activity (GO:0004045)|poly(A) RNA binding (GO:0044822)			NS(1)	1						CGAGGCTCCAAAACACATCGG	0.677																																						ENST00000419060.1																			0				NS(1)	1						c.(64-66)Ttg>Ctg		peptidyl-tRNA hydrolase 1 homolog (S. cerevisiae)							45	47	47					9																	130477855		2203	4300	6503	SO:0001819	synonymous_variant	138428				translation		aminoacyl-tRNA hydrolase activity|protein binding	g.chr9:130477855A>G	AK090922	CCDS35147.1	9q34.11	2006-02-13	2006-02-13	2006-02-13	ENSG00000187024	ENSG00000187024			27039	protein-coding gene	gene with protein product			"chromosome 9 open reading frame 115"	C9orf115			Standard	NM_001002913		Approved	PTH1	uc004bro.3	Q86Y79	OTTHUMG00000020710	ENST00000419060.1:c.64T>C	9.37:g.130477855A>G						C9orf117_ENST00000464092.1_3'UTR|PTRH1_ENST00000423807.1_Silent_p.L22L|C9orf117_ENST00000373293.5_3'UTR|PTRH1_ENST00000543175.1_Silent_p.L22L	p.L22L			Q86Y79	PTH_HUMAN			2	1520	-			22						Silent	SNP	ENST00000419060.1	37	c.64T>C	CCDS35147.1																																																																																				0.677	PTRH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054219.4	NM_001002913		14	24	0	0	0	1	0	14	24					G	130477855	A	G	130477855	2	3	362	1	0	0	0	0	0	0	0	1	12816	11	1	4		4	PTRH1	9	130477855	Silent	SNP	A	TCGA-QU-A6IO-01A-11D-A31L-08		130477855	10735576	23	18109											
SH2D3C	10044	broad.mit.edu	37	chr9	130506867	130506867	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cagtccaccttggtgacatgCcgggccagcgtccgggcatc	6	7	13	15	3	0	1	0	1	0	0	3	1	2	1	5	3	2	1	5	3	0	1			TCGA-QU-A6IO-01A-11D-A31L-08	TCGA-QU-A6IO-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1610fca4-8d42-4e49-8bac-0e2f2d6bd7c4	3667be24-0cb9-4641-85f0-8d65e011d511	g.chr9:130506867C>T	ENST00000314830.8	-	7	1889	c.1776G>A	c.(1774-1776)cgG>cgA	p.R592R	SH2D3C_ENST00000373276.3_Silent_p.R524R|SH2D3C_ENST00000420366.1_Silent_p.R434R|SH2D3C_ENST00000373274.3_Silent_p.R432R|SH2D3C_ENST00000373277.4_Silent_p.R435R|SH2D3C_ENST00000471939.1_5'UTR|SH2D3C_ENST00000429553.1_Silent_p.R238R	NM_170600.2	NP_733745.1	Q8N5H7	SH2D3_HUMAN	SH2 domain containing 3C	592	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				JNK cascade (GO:0007254)|positive regulation of signal transduction (GO:0009967)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|membrane (GO:0016020)	guanyl-nucleotide exchange factor activity (GO:0005085)|SH3/SH2 adaptor activity (GO:0005070)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						TGGTGACATGCCGGGCCAGCG	0.632																																						ENST00000314830.8																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						c.(1774-1776)cgG>cgA		SH2 domain containing 3C							57	59	58					9																	130506867		2203	4300	6503	SO:0001819	synonymous_variant	10044				JNK cascade|small GTPase mediated signal transduction	cytoplasm|membrane	guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity	g.chr9:130506867C>T	AF124251	CCDS6877.1, CCDS6878.1, CCDS48026.1, CCDS48028.1, CCDS59145.1	9q33.1-q33.3	2013-02-14	2002-01-14		ENSG00000095370	ENSG00000095370		"SH2 domain containing"	16884	protein-coding gene	gene with protein product		604722	"SH2 domain-containing 3C"			10187783	Standard	NM_170600		Approved	NSP3	uc004bsc.3	Q8N5H7	OTTHUMG00000020717	ENST00000314830.8:c.1776G>A	9.37:g.130506867C>T						SH2D3C_ENST00000471939.1_5'UTR|SH2D3C_ENST00000373277.4_Silent_p.R435R|SH2D3C_ENST00000429553.1_Silent_p.R238R|SH2D3C_ENST00000420366.1_Silent_p.R434R|SH2D3C_ENST00000373276.3_Silent_p.R524R|SH2D3C_ENST00000373274.3_Silent_p.R432R	p.R592R	NM_170600.2	NP_733745.1	Q8N5H7	SH2D3_HUMAN			7	1889	-			592			Ras-GEF.		A8K5S8|E9PG48|Q5HYE5|Q5JU31|Q6UY42|Q8N6X3|Q9Y2X5	Silent	SNP	ENST00000314830.8	37	c.1776G>A	CCDS6877.1																																																																																				0.632	SH2D3C-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000054264.1	NM_005489		4	129	0	0	0	1	0	4	129					T	130506867	C	T	130506867	2	4	362	1	0	0	0	0	0	0	0	1	14234	726	26	3		3	SH2D3C	9	130506867	Silent	SNP	C	TCGA-QU-A6IO-01A-11D-A31L-08	29012	130506867	10706564	24	18110											
LAMC3	10319	broad.mit.edu	37	chr9	133928258	133928258	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcaggagacctccgaggaCgtggcccctccactgccccc	6	5	11	19	2	0	1	0	0	0	1	2	4	2	2	7	3	2	1	7	3	0	0			TCGA-QU-A6IO-01A-11D-A31L-08	TCGA-QU-A6IO-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1610fca4-8d42-4e49-8bac-0e2f2d6bd7c4	3667be24-0cb9-4641-85f0-8d65e011d511	g.chr9:133928258C>T	ENST00000361069.4	+	11	1978	c.1845C>T	c.(1843-1845)gaC>gaT	p.D615D	LAMC3_ENST00000480883.1_Intron	NM_006059.3	NP_006050.3	Q9Y6N6	LAMC3_HUMAN	laminin, gamma 3	615	Laminin IV type A. {ECO:0000255|PROSITE- ProRule:PRU00458}.				astrocyte development (GO:0014002)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|extracellular matrix organization (GO:0030198)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	structural molecule activity (GO:0005198)			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(31)|ovary(3)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	69	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)		CCTCCGAGGACGTGGCCCCTC	0.697											OREG0019556	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000361069.4																			0				endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(31)|ovary(3)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	69						c.(1843-1845)gaC>gaT		laminin, gamma 3							48	44	45					9																	133928258		2203	4300	6503	SO:0001819	synonymous_variant	10319				cell adhesion	basement membrane|membrane	structural molecule activity	g.chr9:133928258C>T	AF041835	CCDS6938.1	9q31-q34	2013-03-01			ENSG00000050555	ENSG00000050555		"Laminins"	6494	protein-coding gene	gene with protein product		604349				10225960	Standard	NM_006059		Approved	DKFZp434E202	uc004caa.1	Q9Y6N6	OTTHUMG00000020819	ENST00000361069.4:c.1845C>T	9.37:g.133928258C>T			OREG0019556	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1606	LAMC3_ENST00000480883.1_Intron	p.D615D	NM_006059.3	NP_006050.3	Q9Y6N6	LAMC3_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)	11	1978	+	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)	615			Laminin IV type A.		B1APX9|B1APY0|Q59H72	Silent	SNP	ENST00000361069.4	37	c.1845C>T	CCDS6938.1																																																																																				0.697	LAMC3-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054717.3	NM_006059		7	63	0	0	0	1	0	7	63					T	133928258	C	T	133928258	2	4	362	1	0	0	0	0	0	0	0	1	8616	535	19	1		1	LAMC3	9	133928258	Silent	SNP	C	TCGA-QU-A6IO-01A-11D-A31L-08	3421391	133928258	7285173	25	18111											
C9orf96	169436	broad.mit.edu	37	chr9	136256483	136256483	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caaaccctccaacatcatccTcatcagcagtgaccactgca	13	7	4	17	0	3	1	3	1	0	0	5	1	5	1	4	0	4	2	4	0	2	0			TCGA-QU-A6IO-01A-11D-A31L-08	TCGA-QU-A6IO-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1610fca4-8d42-4e49-8bac-0e2f2d6bd7c4	3667be24-0cb9-4641-85f0-8d65e011d511	g.chr9:136256483T>G	ENST00000371957.3	+	7	601	c.494T>G	c.(493-495)cTc>cGc	p.L165R	C9orf96_ENST00000371955.1_5'UTR	NM_153710.3	NP_714921.4	Q8NE28	STKL1_HUMAN		165	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.						ATP binding (GO:0005524)|protein kinase activity (GO:0004672)			autonomic_ganglia(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(10)|ovary(2)|stomach(2)	25				OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05)		AACATCATCCTCATCAGCAGT	0.552																																						ENST00000371957.3																			0				autonomic_ganglia(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(10)|ovary(2)|stomach(2)	25						c.(493-495)cTc>cGc		chromosome 9 open reading frame 96							266	263	264					9																	136256483		2203	4300	6503	SO:0001583	missense	169436						ATP binding|protein kinase activity	g.chr9:136256483T>G																												ENST00000371957.3:c.494T>G	9.37:g.136256483T>G	ENSP00000361025:p.Leu165Arg					C9orf96_ENST00000371955.1_5'UTR	p.L165R	NM_153710.3	NP_714921.3	Q8NE28	SGK71_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05)	7	601	+			165			Protein kinase.		Q5T8U8|Q6ZMP6|Q6ZMQ5	Missense_Mutation	SNP	ENST00000371957.3	37	c.494T>G	CCDS35169.1	.	.	.	.	.	.	.	.	.	.	T	11.40	1.626661	0.28978	.	.	ENSG00000198870	ENST00000371957	T	0.71341	-0.56	4.34	4.34	0.51931	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.398358	0.20442	N	0.092268	D	0.84079	0.5393	M	0.87269	2.87	0.37480	D	0.915974	D	0.89917	1.0	D	0.80764	0.994	D	0.87446	0.2398	10	0.87932	D	0	-8.8141	9.8193	0.40871	0.0:0.0:0.0:1.0	.	165	Q8NE28	SGK71_HUMAN	R	165	ENSP00000361025:L165R	ENSP00000361025:L165R	L	+	2	0	C9orf96	135246304	0.086000	0.21541	0.002000	0.10522	0.190000	0.23558	3.980000	0.56895	1.826000	0.53198	0.459000	0.35465	CTC		0.552	C9orf96-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054855.1			17	335	0	0	0	1	0	17	335					G	136256483	T	G	136256483	3	3	362	1	0	0	0	0	1	0	0	0	2508	1551	54	5	520	5	C9orf96	9	136256483	Missense_Mutation	SNP	T	TCGA-QU-A6IO-01A-11D-A31L-08	2328225	136256483	4956948	26	18112											
RASSF4	83937	broad.mit.edu	37	chr10	45467247	45467247	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gctcttaggcctgctgaaaaCctacaactgctaccatgagg	11	9	9	12	0	1	2	0	2	1	0	1	2	1	2	3	2	6	3	3	2	6	3	rs184086507	byFrequency	TCGA-QU-A6IO-01A-11D-A31L-08	TCGA-QU-A6IO-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1610fca4-8d42-4e49-8bac-0e2f2d6bd7c4	3667be24-0cb9-4641-85f0-8d65e011d511	g.chr10:45467247C>T	ENST00000340258.5	+	3	202	c.89C>T	c.(88-90)aCc>aTc	p.T30I	RASSF4_ENST00000334940.6_Intron|RASSF4_ENST00000472561.1_3'UTR|RASSF4_ENST00000374417.2_Missense_Mutation_p.T30I|C10orf10_ENST00000496638.1_Intron	NM_032023.3	NP_114412.2	Q8WYP3	RIN2_HUMAN	Ras association (RalGDS/AF-6) domain family member 4	0					endocytosis (GO:0006897)|positive regulation of Rab GTPase activity (GO:0032851)|regulation of catalytic activity (GO:0050790)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	GTPase activator activity (GO:0005096)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)|small GTPase regulator activity (GO:0005083)			NS(1)|endometrium(2)|large_intestine(6)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16						CTGCTGAAAACCTACAACTGC	0.562													C|||	14	0.00279553	0	0	5008	,	,		21790	0.0139		0	False		,,,				2504	0					ENST00000340258.4																			0				NS(1)|endometrium(2)|large_intestine(6)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16						c.(88-90)aCc>aTc		Ras association (RalGDS/AF-6) domain family member 4							216	169	185					10																	45467247		2203	4300	6503	SO:0001583	missense	83937				cell cycle|signal transduction		protein binding	g.chr10:45467247C>T	BC032593	CCDS7208.1	10q11.1	2008-02-22	2008-02-22		ENSG00000107551	ENSG00000107551			20793	protein-coding gene	gene with protein product		610559					Standard	NM_032023		Approved	AD037, MGC44914	uc001jbo.3	Q9H2L5	OTTHUMG00000018060	ENST00000340258.5:c.89C>T	10.37:g.45467247C>T	ENSP00000339692:p.Thr30Ile					C10orf10_ENST00000496638.1_Intron|RASSF4_ENST00000374417.2_Missense_Mutation_p.T30I|RASSF4_ENST00000334940.6_Intron|RASSF4_ENST00000472561.1_3'UTR	p.T30I	NM_032023.3	NP_114412.2	Q9H2L5	RASF4_HUMAN			3	202	+			30					Q00425|Q5TFT8|Q9BQL3|Q9H071	Missense_Mutation	SNP	ENST00000340258.5	37	c.89C>T	CCDS7208.1	7	0.003205128205128205	0	0.0	0	0.0	7	0.012237762237762238	0	0.0	C	22.7	4.320318	0.81469	.	.	ENSG00000107551	ENST00000374417;ENST00000374414;ENST00000340258;ENST00000427758;ENST00000428466;ENST00000374411	T;T;T;T	0.37058	1.22;2.26;1.22;1.22	5.34	5.34	0.76211	.	0.336172	0.34362	N	0.004040	T	0.55401	0.1918	M	0.83312	2.635	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.65500	-0.6153	10	0.87932	D	0	-20.1786	14.9095	0.70746	0.0:1.0:0.0:0.0	.	121;30	Q59FL4;Q9H2L5	.;RASF4_HUMAN	I	30;30;30;30;23;121	ENSP00000363538:T30I;ENSP00000339692:T30I;ENSP00000409767:T30I;ENSP00000413468:T23I	ENSP00000339692:T30I	T	+	2	0	RASSF4	44787253	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.850000	0.55918	2.667000	0.90743	0.655000	0.94253	ACC		0.562	RASSF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047745.2	NM_032023		8	51	0	0	0	1	0	8	51					T	45467247	C	T	45467247	3	4	362	1	0	0	0	0	1	0	0	0	13088	507	18	3	95	3	RASSF4	10	45467247	Missense_Mutation	SNP	C	TCGA-QU-A6IO-01A-11D-A31L-08		45467247	90067500	27	18113											
LSP1	4046	broad.mit.edu	37	chr11	1901362	1901362	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacgaggaggaggccgtccaCgagcaatgccagcatgagag	12	3	16	10	3	0	1	0	1	0	1	1	7	1	3	3	3	3	2	3	3	1	0	rs150172209		TCGA-QU-A6IO-01A-11D-A31L-08	TCGA-QU-A6IO-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1610fca4-8d42-4e49-8bac-0e2f2d6bd7c4	3667be24-0cb9-4641-85f0-8d65e011d511	g.chr11:1901362C>A	ENST00000311604.3	+	2	274	c.99C>A	c.(97-99)caC>caA	p.H33Q	LSP1_ENST00000405957.2_5'UTR|LSP1_ENST00000381775.1_Missense_Mutation_p.H161Q|LSP1_ENST00000406638.2_5'UTR	NM_002339.2	NP_002330.1	P33241	LSP1_HUMAN	lymphocyte-specific protein 1	33					cellular component movement (GO:0006928)|cellular defense response (GO:0006968)|chemotaxis (GO:0006935)	actin cytoskeleton (GO:0015629)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|signal transducer activity (GO:0004871)			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|prostate(1)|skin(1)	16		all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00147)|Lung(200;0.0729)|LUSC - Lung squamous cell carcinoma(625;0.0856)		AGGCCGTCCACGAGCAATGCC	0.647																																						ENST00000381775.1																			0				haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|prostate(1)|skin(1)	16						c.(481-483)caC>caA		lymphocyte-specific protein 1							80	64	70					11																	1901362		2202	4299	6501	SO:0001583	missense	4046				cellular component movement|cellular defense response	actin cytoskeleton|Golgi apparatus|plasma membrane	actin binding|signal transducer activity	g.chr11:1901362C>A	M33552	CCDS31334.1, CCDS31335.1, CCDS58110.1	11p15.5	2008-02-05			ENSG00000130592	ENSG00000130592			6707	protein-coding gene	gene with protein product		153432				2174784	Standard	NM_001242932		Approved	WP34	uc001luj.3	P33241	OTTHUMG00000012252	ENST00000311604.3:c.99C>A	11.37:g.1901362C>A	ENSP00000308383:p.His33Gln					LSP1_ENST00000406638.2_5'UTR|LSP1_ENST00000405957.2_5'UTR|LSP1_ENST00000311604.3_Missense_Mutation_p.H33Q	p.H161Q	NM_001242932.1	NP_001229861.1	P33241	LSP1_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00147)|Lung(200;0.0729)|LUSC - Lung squamous cell carcinoma(625;0.0856)	3	591	+		all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	33					B3KPP1|B3KRR6|E9PBV6|E9PFP3|Q16096|Q53H48|Q6FHM3|Q9BUY8	Missense_Mutation	SNP	ENST00000311604.3	37	c.483C>A	CCDS31334.1	.	.	.	.	.	.	.	.	.	.	.	6.630	0.484764	0.12641	.	.	ENSG00000130592	ENST00000311604;ENST00000381775;ENST00000457279;ENST00000429923;ENST00000418975	T;T;T;T;T	0.42513	2.02;1.94;2.01;1.59;0.97	3.54	-6.11	0.02131	.	0.605277	0.11938	U	0.515027	T	0.14657	0.0354	N	0.08118	0	0.25681	N	0.985798	B;B	0.24092	0.097;0.048	B;B	0.15870	0.014;0.014	T	0.09314	-1.0680	10	0.59425	D	0.04	-0.8546	1.1985	0.01880	0.2443:0.1228:0.1513:0.4815	.	161;33	E9PFP3;P33241	.;LSP1_HUMAN	Q	33;161;24;16;51	ENSP00000308383:H33Q;ENSP00000371194:H161Q;ENSP00000400346:H24Q;ENSP00000400999:H16Q;ENSP00000403460:H51Q	ENSP00000308383:H33Q	H	+	3	2	LSP1	1857938	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.051000	0.01402	-1.156000	0.02818	-1.337000	0.01257	CAC		0.647	LSP1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000034045.3	NM_002339		8	34	1	0	0.000157383	1	0.000165968	8	34					A	1901362	C	A	1901362	3	1	362	1	0	0	0	0	1	0	0	0	9063	535	19	5	105	5	LSP1	11	1901362	Missense_Mutation	SNP	C	TCGA-QU-A6IO-01A-11D-A31L-08		1901362	133105154	28	18114											
OR4C11	219429	broad.mit.edu	37	chr11	55370956	55370956	+	Frame_Shift_Del	DEL	C	C	-																															ataattttgccatgccataaCtttctcatggcatttttcac																								rs577404354		TCGA-QU-A6IO-01A-11D-A31L-08	TCGA-QU-A6IO-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1610fca4-8d42-4e49-8bac-0e2f2d6bd7c4	3667be24-0cb9-4641-85f0-8d65e011d511	g.chr11:55370956delC	ENST00000302231.4	-	1	918	c.894delG	c.(892-894)aagfs	p.K298fs		NM_001004700.2	NP_001004700.2	Q6IEV9	OR4CB_HUMAN	olfactory receptor, family 4, subfamily C, member 11	298						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(1)|large_intestine(5)|lung(23)|ovary(1)|prostate(1)|skin(1)	33						CATGCCATAACTTTCTCATGG	0.363																																						ENST00000302231.4																			0				endometrium(1)|kidney(1)|large_intestine(5)|lung(23)|ovary(1)|prostate(1)|skin(1)	33						c.(892-894)aafs		olfactory receptor, family 4, subfamily C, member 11							51	47	48					11																	55370956		2177	3997	6174	SO:0001589	frameshift_variant	219429				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55370956delC	AB065774	CCDS31503.1	11q11	2012-08-09		2004-03-10	ENSG00000172188	ENSG00000172188		"GPCR / Class A : Olfactory receptors"	15167	protein-coding gene	gene with protein product				OR4C11P			Standard	NM_001004700		Approved		uc010rii.2	Q6IEV9	OTTHUMG00000165290	ENST00000302231.4:c.894delG	11.37:g.55370956delC	ENSP00000306651:p.Lys298fs						p.K298fs	NM_001004700.2	NP_001004700.2	Q6IEV9	OR4CB_HUMAN			1	918	-			298					B9EIL4|Q8NGL8	Frame_Shift_Del	DEL	ENST00000302231.4	37	c.894delG	CCDS31503.1																																																																																				0.363	OR4C11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383268.1	NM_001004700		11	45						11	45	---	---	---	---	-	55370956	C	-	55370956	7	5	362	1	0	1	0	1	0	0	0	0	11045	564	20	0	40	0	OR4C11	11	55370956	Frame_Shift_Del	DEL	C	TCGA-QU-A6IO-01A-11D-A31L-08	53469594	55370956	79635560	29	18115											
OR4P4	81300	broad.mit.edu	37	chr11	55406191	55406191	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcacagggatggcctatgacCgctatgtggccatttgcaag	9	10	12	10	1	1	1	1	1	0	0	1	2	1	2	3	3	1	2	3	3	3	3			TCGA-QU-A6IO-01A-11D-A31L-08	TCGA-QU-A6IO-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1610fca4-8d42-4e49-8bac-0e2f2d6bd7c4	3667be24-0cb9-4641-85f0-8d65e011d511	g.chr11:55406191C>T	ENST00000314612.2	+	1	358	c.358C>T	c.(358-360)Cgc>Tgc	p.R120C		NM_001004124.1	NP_001004124.1	Q8NGL7	OR4P4_HUMAN	olfactory receptor, family 4, subfamily P, member 4	120						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			autonomic_ganglia(1)|central_nervous_system(1)|kidney(4)|large_intestine(4)|lung(28)|ovary(1)|upper_aerodigestive_tract(1)	40						GGCCTATGACCGCTATGTGGC	0.403																																						ENST00000314612.2																			0				autonomic_ganglia(1)|central_nervous_system(1)|kidney(4)|large_intestine(4)|lung(28)|ovary(1)|upper_aerodigestive_tract(1)	40						c.(358-360)Cgc>Tgc		olfactory receptor, family 4, subfamily P, member 4							94	82	86					11																	55406191		2180	4017	6197	SO:0001583	missense	81300				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55406191C>T	AB065775	CCDS31504.1	11q11	2012-08-09			ENSG00000181927	ENSG00000181927		"GPCR / Class A : Olfactory receptors"	15180	protein-coding gene	gene with protein product				OR4P3P			Standard	NM_001004124		Approved		uc010rij.2	Q8NGL7	OTTHUMG00000165300	ENST00000314612.2:c.358C>T	11.37:g.55406191C>T	ENSP00000324831:p.Arg120Cys						p.R120C	NM_001004124.1	NP_001004124.1	Q8NGL7	OR4P4_HUMAN			1	358	+			120						Missense_Mutation	SNP	ENST00000314612.2	37	c.358C>T	CCDS31504.1	.	.	.	.	.	.	.	.	.	.	C	9.066	0.995711	0.19043	.	.	ENSG00000181927	ENST00000314612	T	0.77358	-1.09	5.37	1.42	0.22433	GPCR, rhodopsin-like superfamily (1);	0.175331	0.27927	N	0.017297	T	0.71871	0.3391	M	0.69523	2.12	0.43637	D	0.996037	B	0.26318	0.146	B	0.24974	0.057	T	0.65121	-0.6245	10	0.72032	D	0.01	-3.8644	6.3502	0.21370	0.0:0.5465:0.2439:0.2096	.	120	Q8NGL7	OR4P4_HUMAN	C	120	ENSP00000324831:R120C	ENSP00000324831:R120C	R	+	1	0	OR4P4	55162767	0.025000	0.19082	0.966000	0.40874	0.062000	0.15995	0.315000	0.19451	0.008000	0.14787	0.637000	0.83480	CGC		0.403	OR4P4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383356.1	NM_001004124		21	60	0	0	0	1	0	21	60					T	55406191	C	T	55406191	3	4	362	1	0	0	0	0	1	0	0	0	11080	652	23	2	360	2	OR4P4	11	55406191	Missense_Mutation	SNP	C	TCGA-QU-A6IO-01A-11D-A31L-08	35235	55406191	79600325	30	18116											
OR8K1	390157	broad.mit.edu	37	chr11	56114074	56114074	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagctatttttactgtgactGtatccctctgatgtccatac	8	16	6	11	0	1	2	0	2	1	0	3	2	3	2	2	0	3	2	2	0	4	6			TCGA-QU-A6IO-01A-11D-A31L-08	TCGA-QU-A6IO-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1610fca4-8d42-4e49-8bac-0e2f2d6bd7c4	3667be24-0cb9-4641-85f0-8d65e011d511	g.chr11:56114074G>T	ENST00000279783.2	+	1	654	c.560G>T	c.(559-561)tGt>tTt	p.C187F		NM_001002907.1	NP_001002907.1	Q8NGG5	OR8K1_HUMAN	olfactory receptor, family 8, subfamily K, member 1	187						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			large_intestine(8)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33	Esophageal squamous(21;0.00448)					TACTGTGACTGTATCCCTCTG	0.353										HNSCC(65;0.19)																												ENST00000279783.2																			0				large_intestine(8)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						c.(559-561)tGt>tTt		olfactory receptor, family 8, subfamily K, member 1							145	145	145					11																	56114074		2201	4296	6497	SO:0001583	missense	390157				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56114074G>T	AB065835	CCDS31528.1	11q11	2012-08-09			ENSG00000150261	ENSG00000150261		"GPCR / Class A : Olfactory receptors"	14831	protein-coding gene	gene with protein product							Standard	NM_001002907		Approved		uc010rjg.2	Q8NGG5	OTTHUMG00000166858	ENST00000279783.2:c.560G>T	11.37:g.56114074G>T	ENSP00000279783:p.Cys187Phe	HNSCC(65;0.19)					p.C187F	NM_001002907.1	NP_001002907.1	Q8NGG5	OR8K1_HUMAN			1	654	+	Esophageal squamous(21;0.00448)		187					B9EJB1|Q6IFC3|Q96RC1	Missense_Mutation	SNP	ENST00000279783.2	37	c.560G>T	CCDS31528.1	.	.	.	.	.	.	.	.	.	.	G	0.754	-0.771823	0.02951	.	.	ENSG00000150261	ENST00000279783	T	0.34667	1.35	4.37	-0.0358	0.13891	GPCR, rhodopsin-like superfamily (1);	0.554247	0.15930	N	0.237722	T	0.12263	0.0298	N	0.01242	-0.935	0.09310	N	1	B	0.28178	0.202	B	0.40101	0.319	T	0.40384	-0.9566	10	0.09590	T	0.72	-5.1129	2.9511	0.05862	0.0909:0.3499:0.2709:0.2884	.	187	Q8NGG5	OR8K1_HUMAN	F	187	ENSP00000279783:C187F	ENSP00000279783:C187F	C	+	2	0	OR8K1	55870650	0.000000	0.05858	0.079000	0.20413	0.270000	0.26580	0.286000	0.18902	0.427000	0.26145	-0.283000	0.09986	TGT		0.353	OR8K1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391605.1	NM_001002907		4	90	1	0	1	1	1	4	90					T	56114074	G	T	56114074	3	4	362	1	0	0	0	0	1	0	0	0	11243	1377	48	5	562	5	OR8K1	11	56114074	Missense_Mutation	SNP	G	TCGA-QU-A6IO-01A-11D-A31L-08	707883	56114074	78892442	31	18117											
ARAP1	116985	broad.mit.edu	37	chr11	72418283	72418283	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagtcaggctgaggagcccCgcagtcagcacagaacctgt	10	5	12	14	1	2	2	2	1	0	1	2	3	2	3	4	2	3	3	4	2	1	0			TCGA-QU-A6IO-01A-11D-A31L-08	TCGA-QU-A6IO-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1610fca4-8d42-4e49-8bac-0e2f2d6bd7c4	3667be24-0cb9-4641-85f0-8d65e011d511	g.chr11:72418283C>T	ENST00000393609.3	-	12	1862	c.1660G>A	c.(1660-1662)Ggg>Agg	p.G554R	ARAP1_ENST00000393605.3_Missense_Mutation_p.G314R|ARAP1_ENST00000359373.5_Missense_Mutation_p.G554R|ARAP1_ENST00000455638.2_Missense_Mutation_p.G554R|ARAP1_ENST00000426523.1_Missense_Mutation_p.G309R|ARAP1_ENST00000334211.8_Missense_Mutation_p.G309R|ARAP1-AS2_ENST00000500163.2_RNA|ARAP1_ENST00000429686.1_Missense_Mutation_p.G309R	NM_001040118.2	NP_001035207.1	Q96P48	ARAP1_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1	554	Arf-GAP. {ECO:0000255|PROSITE- ProRule:PRU00288}.				actin filament reorganization involved in cell cycle (GO:0030037)|negative regulation of stress fiber assembly (GO:0051497)|positive regulation of Cdc42 GTPase activity (GO:0043089)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of receptor recycling (GO:0001921)|regulation of ARF GTPase activity (GO:0032312)|regulation of cell shape (GO:0008360)|regulation of cellular component movement (GO:0051270)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|Rho GTPase activator activity (GO:0005100)|zinc ion binding (GO:0008270)			cervix(2)|endometrium(2)|large_intestine(10)|lung(8)|ovary(1)|skin(3)|urinary_tract(1)	27						TGAGGAGCCCCGCAGTCAGCA	0.642																																					Ovarian(102;1198 1520 13195 17913 37529)	ENST00000359373.5																			0				cervix(2)|endometrium(2)|large_intestine(10)|lung(8)|ovary(1)|skin(3)|urinary_tract(1)	27						c.(1660-1662)Ggg>Agg		ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1							49	40	43					11																	72418283		2199	4293	6492	SO:0001583	missense	116985				actin filament reorganization involved in cell cycle|negative regulation of stress fiber assembly|positive regulation of Cdc42 GTPase activity|positive regulation of filopodium assembly|regulation of ARF GTPase activity|regulation of cell shape|regulation of cellular component movement|small GTPase mediated signal transduction	cytosol|Golgi cisterna membrane|plasma membrane	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|Rho GTPase activator activity|zinc ion binding	g.chr11:72418283C>T	AF411983	CCDS8217.2, CCDS41687.1, CCDS44671.1	11q13.3	2013-01-11	2008-09-22	2008-09-22	ENSG00000186635	ENSG00000186635		"ADP-ribosylation factor GTPase activating proteins", "Sterile alpha motif (SAM) domain containing", "Pleckstrin homology (PH) domain containing", "Ankyrin repeat domain containing"	16925	protein-coding gene	gene with protein product		606646	"centaurin, delta 2"	CENTD2			Standard	NM_001040118		Approved		uc001osu.3	Q96P48	OTTHUMG00000157102	ENST00000393609.3:c.1660G>A	11.37:g.72418283C>T	ENSP00000377233:p.Gly554Arg					ARAP1_ENST00000334211.8_Missense_Mutation_p.G309R|ARAP1_ENST00000393605.3_Missense_Mutation_p.G314R|ARAP1_ENST00000455638.2_Missense_Mutation_p.G554R|ARAP1_ENST00000393609.3_Missense_Mutation_p.G554R|ARAP1_ENST00000429686.1_Missense_Mutation_p.G309R|ARAP1_ENST00000426523.1_Missense_Mutation_p.G309R	p.G554R			Q96P48	ARAP1_HUMAN			12	2511	-			554			Arf-GAP.		A3KLL7|B2RTS2|O94879|Q4LDD5|Q59FI7|Q6PHS3|Q8WU51|Q96HP6|Q96L71	Missense_Mutation	SNP	ENST00000393609.3	37	c.1660G>A	CCDS41687.1	.	.	.	.	.	.	.	.	.	.	C	7.505	0.653460	0.14580	.	.	ENSG00000186635	ENST00000359373;ENST00000455638;ENST00000393605;ENST00000334211;ENST00000393609;ENST00000426523;ENST00000429686;ENST00000340247	T;T;T;T;T;T;T	0.51071	0.72;0.72;0.72;0.72;0.72;0.72;0.72	4.58	3.67	0.42095	.	0.213470	0.38272	N	0.001744	T	0.43678	0.1258	M	0.62088	1.915	0.30866	N	0.732985	B;P;P;B;B	0.51791	0.009;0.465;0.948;0.03;0.024	B;B;P;B;B	0.46275	0.025;0.109;0.51;0.025;0.024	T	0.44559	-0.9320	10	0.13108	T	0.6	.	8.0518	0.30583	0.0:0.8144:0.0:0.1856	.	309;309;554;554;314	E7EU13;B2RTS2;Q96P48-3;Q96P48;Q96P48-1	.;.;.;ARAP1_HUMAN;.	R	554;554;314;309;554;309;309;343	ENSP00000352332:G554R;ENSP00000390461:G554R;ENSP00000377230:G314R;ENSP00000335506:G309R;ENSP00000377233:G554R;ENSP00000392264:G309R;ENSP00000403127:G309R	ENSP00000335506:G309R	G	-	1	0	ARAP1	72095931	0.001000	0.12720	0.992000	0.48379	0.855000	0.48748	1.272000	0.33109	1.170000	0.42753	-0.142000	0.14014	GGG		0.642	ARAP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000347428.1	NM_001040118		4	6	0	0	0	1	0	4	6					T	72418283	C	T	72418283	3	4	362	1	0	0	0	0	1	0	0	0	838	652	23	2	2788	2	ARAP1	11	72418283	Missense_Mutation	SNP	C	TCGA-QU-A6IO-01A-11D-A31L-08	16304209	72418283	62588233	32	18118											
RPH3A	22895	broad.mit.edu	37	chr12	113321171	113321171	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tgagaccctcgtgtatcacgGcatcaccgatgaggacatgc	10	8	11	12	3	2	2	2	2	0	1	3	5	2	3	2	2	1	2	2	2	1	1			TCGA-QU-A6IO-01A-11D-A31L-08	TCGA-QU-A6IO-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1610fca4-8d42-4e49-8bac-0e2f2d6bd7c4	3667be24-0cb9-4641-85f0-8d65e011d511	g.chr12:113321171G>A	ENST00000389385.4	+	16	1897	c.1400G>A	c.(1399-1401)gGc>gAc	p.G467D	RPH3A_ENST00000420983.2_Missense_Mutation_p.G467D|RPH3A_ENST00000549913.2_3'UTR|RPH3A_ENST00000543106.2_Missense_Mutation_p.G467D|RPH3A_ENST00000415485.3_Missense_Mutation_p.G467D|RPH3A_ENST00000551052.1_Missense_Mutation_p.G463D|RPH3A_ENST00000548866.1_Missense_Mutation_p.G418D|RPH3A_ENST00000447659.2_Missense_Mutation_p.G418D	NM_001143854.1|NM_014954.3	NP_001137326.1|NP_055769.2	Q9Y2J0	RP3A_HUMAN	rabphilin 3A	467	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.				intracellular protein transport (GO:0006886)	cell junction (GO:0030054)|membrane (GO:0016020)|synaptic vesicle (GO:0008021)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|phosphatidylinositol phosphate binding (GO:1901981)|transporter activity (GO:0005215)			breast(1)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)|ovary(3)|prostate(4)|skin(6)|urinary_tract(1)	47				BRCA - Breast invasive adenocarcinoma(302;0.00453)		GTGTATCACGGCATCACCGAT	0.562																																						ENST00000389385.4																			0				breast(1)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)|ovary(3)|prostate(4)|skin(6)|urinary_tract(1)	47						c.(1399-1401)gGc>gAc		rabphilin 3A homolog (mouse)							74	62	66					12																	113321171		2203	4300	6503	SO:0001583	missense	22895				intracellular protein transport	cell junction|synaptic vesicle	Rab GTPase binding|transporter activity|zinc ion binding	g.chr12:113321171G>A	AB023202	CCDS31904.1, CCDS44979.1	12q24.13	2014-07-02	2014-07-02		ENSG00000089169	ENSG00000089169		"Synaptotagmins"	17056	protein-coding gene	gene with protein product		612159	"rabphilin 3A homolog (mouse)"			10231032, 7822236	Standard	NM_014954		Approved	KIAA0985, rabphilin, exophilin-1	uc001ttz.3	Q9Y2J0	OTTHUMG00000169713	ENST00000389385.4:c.1400G>A	12.37:g.113321171G>A	ENSP00000374036:p.Gly467Asp					RPH3A_ENST00000543106.2_Missense_Mutation_p.G467D|RPH3A_ENST00000548866.1_Missense_Mutation_p.G418D|RPH3A_ENST00000447659.2_Missense_Mutation_p.G418D|RPH3A_ENST00000415485.3_Missense_Mutation_p.G467D|RPH3A_ENST00000551052.1_Missense_Mutation_p.G463D|RPH3A_ENST00000549913.2_3'UTR|RPH3A_ENST00000420983.2_Missense_Mutation_p.G467D	p.G467D	NM_001143854.1|NM_014954.3	NP_001137326.1|NP_055769.2	Q9Y2J0	RP3A_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.00453)	16	1897	+			467			C2 1.		B7Z3C3|Q96AE0	Missense_Mutation	SNP	ENST00000389385.4	37	c.1400G>A	CCDS44979.1	.	.	.	.	.	.	.	.	.	.	G	31	5.073351	0.94000	.	.	ENSG00000089169	ENST00000543106;ENST00000389385;ENST00000447659;ENST00000551052;ENST00000415485;ENST00000548866;ENST00000420983;ENST00000549913	T;T;T;T;T;T;T	0.16597	2.33;2.33;2.33;2.33;2.33;2.33;2.33	5.43	5.43	0.79202	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.64402	D	0.000009	T	0.38558	0.1045	L	0.50993	1.605	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	T	0.06110	-1.0845	10	0.62326	D	0.03	.	18.0287	0.89276	0.0:0.0:1.0:0.0	.	418;467;467;463	F8VP47;B7Z9Z7;Q9Y2J0;Q9Y2J0-2	.;.;RP3A_HUMAN;.	D	467;467;418;463;467;418;467;119	ENSP00000440384:G467D;ENSP00000374036:G467D;ENSP00000413254:G418D;ENSP00000448297:G463D;ENSP00000405357:G467D;ENSP00000450347:G418D;ENSP00000408889:G467D	ENSP00000374036:G467D	G	+	2	0	RPH3A	111805554	1.000000	0.71417	0.999000	0.59377	0.959000	0.62525	9.466000	0.97665	2.546000	0.85860	0.551000	0.68910	GGC		0.562	RPH3A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000405561.1	NM_014954		3	26	0	0	0	1	0	3	26					A	113321171	G	A	113321171	3	1	362	1	0	0	0	0	1	0	0	0	13551	1203	42	3	1454	3	RPH3A	12	113321171	Missense_Mutation	SNP	G	TCGA-QU-A6IO-01A-11D-A31L-08		113321171	20530724	33	18119											
LIG4	3981	broad.mit.edu	37	chr13	108862482	108862482	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctctttctcagagtctcatGccctagctttttattattaa	8	18	4	11	0	3	1	2	0	3	1	5	1	3	1	2	0	2	1	2	0	4	7			TCGA-QU-A6IO-01A-11D-A31L-08	TCGA-QU-A6IO-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1610fca4-8d42-4e49-8bac-0e2f2d6bd7c4	3667be24-0cb9-4641-85f0-8d65e011d511	g.chr13:108862482G>A	ENST00000356922.4	-	2	1407	c.1135C>T	c.(1135-1137)Cat>Tat	p.H379Y	LIG4_ENST00000442234.1_Missense_Mutation_p.H379Y|LIG4_ENST00000405925.1_Missense_Mutation_p.H379Y	NM_002312.3|NM_206937.1	NP_002303.2|NP_996820.1	P49917	DNLI4_HUMAN	ligase IV, DNA, ATP-dependent	379					cell cycle (GO:0007049)|cell division (GO:0051301)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|chromosome organization (GO:0051276)|DNA biosynthetic process (GO:0071897)|DNA ligation (GO:0006266)|DNA ligation involved in DNA recombination (GO:0051102)|DNA ligation involved in DNA repair (GO:0051103)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|establishment of integrated proviral latency (GO:0075713)|in utero embryonic development (GO:0001701)|isotype switching (GO:0045190)|lagging strand elongation (GO:0006273)|negative regulation of neuron apoptotic process (GO:0043524)|neuron apoptotic process (GO:0051402)|nucleotide-excision repair, DNA gap filling (GO:0006297)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of neurogenesis (GO:0050769)|pro-B cell differentiation (GO:0002328)|response to gamma radiation (GO:0010332)|response to X-ray (GO:0010165)|single strand break repair (GO:0000012)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)|T cell receptor V(D)J recombination (GO:0033153)|V(D)J recombination (GO:0033151)|viral process (GO:0016032)	condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|DNA ligase IV complex (GO:0032807)|DNA-dependent protein kinase-DNA ligase 4 complex (GO:0005958)|focal adhesion (GO:0005925)|nonhomologous end joining complex (GO:0070419)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA ligase (ATP) activity (GO:0003910)|DNA ligase activity (GO:0003909)|ligase activity (GO:0016874)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42	all_lung(23;0.000238)|all_neural(89;0.00256)|Lung NSC(43;0.0056)|Medulloblastoma(90;0.00596)|Lung SC(71;0.104)					AGAGTCTCATGCCCTAGCTTT	0.328								Non-homologous end-joining																														ENST00000356922.4																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						c.(1135-1137)Cat>Tat	Non-homologous end-joining	ligase IV, DNA, ATP-dependent							78	82	81					13																	108862482		2203	4298	6501	SO:0001583	missense	3981				cell cycle|cell division|cell proliferation|central nervous system development|chromosome organization|DNA ligation involved in DNA recombination|DNA ligation involved in DNA repair|DNA replication|double-strand break repair via nonhomologous end joining|in utero embryonic development|initiation of viral infection|isotype switching|negative regulation of neuron apoptosis|neuron apoptosis|nucleotide-excision repair, DNA gap filling|positive regulation of fibroblast proliferation|positive regulation of neurogenesis|pro-B cell differentiation|provirus integration|response to gamma radiation|response to X-ray|single strand break repair|somatic stem cell maintenance|T cell differentiation in thymus|T cell receptor V(D)J recombination	condensed chromosome|cytoplasm|DNA ligase IV complex|DNA-dependent protein kinase-DNA ligase 4 complex|focal adhesion|nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding|protein C-terminus binding	g.chr13:108862482G>A	X83441	CCDS9508.1	13q33-q34	2014-09-17			ENSG00000174405	ENSG00000174405	6.5.1.1		6601	protein-coding gene	gene with protein product	"polydeoxyribonucleotide synthase [ATP] 4", "polynucleotide ligase", "sealase", "DNA repair enzyme", "DNA joinase"	601837				7760816	Standard	NM_001098268		Approved		uc001vqo.3	P49917	OTTHUMG00000017328	ENST00000356922.4:c.1135C>T	13.37:g.108862482G>A	ENSP00000349393:p.His379Tyr					LIG4_ENST00000442234.1_Missense_Mutation_p.H379Y|LIG4_ENST00000405925.1_Missense_Mutation_p.H379Y	p.H379Y	NM_002312.3|NM_206937.1	NP_002303.2|NP_996820.1	P49917	DNLI4_HUMAN			2	1407	-	all_lung(23;0.000238)|all_neural(89;0.00256)|Lung NSC(43;0.0056)|Medulloblastoma(90;0.00596)|Lung SC(71;0.104)		379					Q8IY66|Q8TEU5	Missense_Mutation	SNP	ENST00000356922.4	37	c.1135C>T	CCDS9508.1	.	.	.	.	.	.	.	.	.	.	G	4.036	0.004186	0.07866	.	.	ENSG00000174405	ENST00000405925;ENST00000442234;ENST00000356922	D;D;D	0.84370	-1.84;-1.84;-1.84	5.49	5.49	0.81192	DNA ligase, ATP-dependent, central (2);	0.343652	0.33534	N	0.004808	D	0.86343	0.5910	M	0.74467	2.265	0.31384	N	0.678688	B	0.19935	0.04	B	0.22386	0.039	D	0.85176	0.1001	10	0.72032	D	0.01	.	18.3666	0.90392	0.0:0.0:1.0:0.0	.	379	P49917	DNLI4_HUMAN	Y	379	ENSP00000385955:H379Y;ENSP00000402030:H379Y;ENSP00000349393:H379Y	ENSP00000349393:H379Y	H	-	1	0	LIG4	107660483	1.000000	0.71417	0.972000	0.41901	0.906000	0.53458	5.906000	0.69900	2.572000	0.86782	0.643000	0.83706	CAT		0.328	LIG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045738.4	NM_002312		7	55	0	0	0	1	0	7	55					A	108862482	G	A	108862482	3	1	362	1	0	0	0	0	1	0	0	0	8783	1319	46	3	1604	3	LIG4	13	108862482	Missense_Mutation	SNP	G	TCGA-QU-A6IO-01A-11D-A31L-08		108862482	6307396	34	18120											
ATP8B4	79895	broad.mit.edu	37	chr15	50168708	50168708	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gggacagtccacgctgttctGgtcactcacatcctgtaaac	9	10	9	13	1	3	0	2	0	1	0	5	1	5	1	2	2	1	3	2	2	2	2			TCGA-QU-A6IO-01A-11D-A31L-08	TCGA-QU-A6IO-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1610fca4-8d42-4e49-8bac-0e2f2d6bd7c4	3667be24-0cb9-4641-85f0-8d65e011d511	g.chr15:50168708G>T	ENST00000284509.6	-	25	2935	c.2794C>A	c.(2794-2796)Cag>Aag	p.Q932K	ATP8B4_ENST00000559829.1_Missense_Mutation_p.Q932K	NM_024837.2	NP_079113.2	Q8TF62	AT8B4_HUMAN	ATPase, class I, type 8B, member 4	932						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1)	73		all_lung(180;0.00183)		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)		ACGCTGTTCTGGTCACTCACA	0.423																																						ENST00000284509.6																			0				breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1)	73						c.(2794-2796)Cag>Aag		ATPase, class I, type 8B, member 4							89	88	88					15																	50168708		2196	4295	6491	SO:0001583	missense	79895				ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr15:50168708G>T	AB075819	CCDS32238.1	15q21.2	2010-04-20	2007-09-19		ENSG00000104043	ENSG00000104043		"ATPases / P-type"	13536	protein-coding gene	gene with protein product		609123	"ATPase, Class I, type 8B, member 4"			11015572	Standard	NM_024837		Approved	ATPIM, KIAA1939	uc001zxu.3	Q8TF62		ENST00000284509.6:c.2794C>A	15.37:g.50168708G>T	ENSP00000284509:p.Gln932Lys					ATP8B4_ENST00000559829.1_Missense_Mutation_p.Q932K	p.Q932K	NM_024837.2	NP_079113.2	Q8TF62	AT8B4_HUMAN		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)	25	2935	-		all_lung(180;0.00183)	932					Q9H727	Missense_Mutation	SNP	ENST00000284509.6	37	c.2794C>A	CCDS32238.1	.	.	.	.	.	.	.	.	.	.	G	5.507	0.278602	0.10458	.	.	ENSG00000104043	ENST00000284509	T	0.67698	-0.28	5.86	5.86	0.93980	.	0.000000	0.85682	D	0.000000	T	0.59569	0.2203	N	0.02658	-0.545	0.36978	D	0.894135	D;B	0.71674	0.998;0.007	D;B	0.70935	0.971;0.009	T	0.62756	-0.6787	10	0.11182	T	0.66	.	17.6957	0.88281	0.0:0.0:1.0:0.0	.	10;932	Q6PG43;Q8TF62	.;AT8B4_HUMAN	K	932	ENSP00000284509:Q932K	ENSP00000284509:Q932K	Q	-	1	0	ATP8B4	47956000	0.994000	0.37717	1.000000	0.80357	0.997000	0.91878	5.536000	0.67180	2.776000	0.95493	0.655000	0.94253	CAG		0.423	ATP8B4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418100.1	NM_024837		12	39	1	0	1.05317e-09	1	1.19772e-09	12	39					T	50168708	G	T	50168708	3	4	362	1	0	0	0	0	1	0	0	0	1197	1357	47	5	800	5	ATP8B4	15	50168708	Missense_Mutation	SNP	G	TCGA-QU-A6IO-01A-11D-A31L-08		50168708	52362684	35	18121											
CELF6	60677	broad.mit.edu	37	chr15	72582049	72582049	+	Frame_Shift_Del	DEL	C	C	-																															tggccggccatctgctgcatCcgccgcagcgcgcgctcccg																										TCGA-QU-A6IO-01A-11D-A31L-08	TCGA-QU-A6IO-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1610fca4-8d42-4e49-8bac-0e2f2d6bd7c4	3667be24-0cb9-4641-85f0-8d65e011d511	g.chr15:72582049delC	ENST00000569547.1	-	6	737	c.666delG	c.(664-666)cggfs	p.R222fs	RP11-106M3.3_ENST00000570175.1_RNA|CELF6_ENST00000567083.1_Frame_Shift_Del_p.R222fs|CELF6_ENST00000569311.1_5'UTR|CELF6_ENST00000539635.1_Frame_Shift_Del_p.R83fs|CELF6_ENST00000543764.2_Frame_Shift_Del_p.R107fs|CELF6_ENST00000287202.5_Frame_Shift_Del_p.R222fs|RP11-106M3.2_ENST00000379915.4_RNA|CELF6_ENST00000395258.2_Frame_Shift_Del_p.R109fs			Q96J87	CELF6_HUMAN	CUGBP, Elav-like family member 6	222					mRNA processing (GO:0006397)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(2)	13						TCTGCTGCATCCGCCGCAGCG	0.751																																						ENST00000287202.5																			0				breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(2)	13						c.(664-666)cgfs		CUGBP, Elav-like family member 6							2	3	3					15																	72582049		1661	3311	4972	SO:0001589	frameshift_variant	60677				mRNA processing|regulation of alternative nuclear mRNA splicing, via spliceosome	cytoplasm|nucleus	nucleotide binding|RNA binding	g.chr15:72582049delC	AF425606	CCDS10242.1, CCDS53955.1, CCDS53956.1	15q24	2013-02-12	2010-02-19	2010-02-19	ENSG00000140488	ENSG00000140488		"RNA binding motif (RRM) containing"	14059	protein-coding gene	gene with protein product		612681	"Bruno (Drosophila) -like 6, RNA binding protein", "bruno-like 6, RNA binding protein (Drosophila)"	BRUNOL6		10893231	Standard	NM_052840		Approved		uc002auh.2	Q96J87	OTTHUMG00000133444	ENST00000569547.1:c.666delG	15.37:g.72582049delC	ENSP00000454749:p.Arg222fs					RP11-106M3.3_ENST00000570175.1_RNA|CELF6_ENST00000567083.1_Frame_Shift_Del_p.R222fs|CELF6_ENST00000543764.2_Frame_Shift_Del_p.R107fs|CELF6_ENST00000395258.2_Frame_Shift_Del_p.R109fs|CELF6_ENST00000539635.1_Frame_Shift_Del_p.R83fs|RP11-106M3.2_ENST00000379915.4_RNA|CELF6_ENST00000569311.1_5'UTR	p.R222fs	NM_052840.4	NP_443072.3	Q96J87	CELF6_HUMAN			6	920	-			222					B4DG28|B4DJB6|Q6PII4|Q6ZNJ7|Q8N607	Frame_Shift_Del	DEL	ENST00000569547.1	37	c.666delG	CCDS10242.1																																																																																				0.751	CELF6-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	nonsense_mediated_decay	protein_coding	OTTHUMT00000420180.1	NM_052840		2	4						2	4	---	---	---	---	-	72582049	C	-	72582049	7	5	362	1	0	1	0	1	0	0	0	0	3220	842	30	0	807	0	CELF6	15	72582049	Frame_Shift_Del	DEL	C	TCGA-QU-A6IO-01A-11D-A31L-08	22413341	72582049	29949343	36	18122											
KRT27	342574	broad.mit.edu	37	chr17	38933946	38933946	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gccagctgtgcacagtagttActctcggtctctgtcaagga	8	11	11	11	1	3	0	1	0	2	0	5	1	3	1	1	2	3	4	1	2	3	2			TCGA-QU-A6IO-01A-11D-A31L-08	TCGA-QU-A6IO-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1610fca4-8d42-4e49-8bac-0e2f2d6bd7c4	3667be24-0cb9-4641-85f0-8d65e011d511	g.chr17:38933946A>G	ENST00000301656.3	-	6	1051	c.1011T>C	c.(1009-1011)agT>agC	p.S337S	KRT27_ENST00000540723.1_5'UTR	NM_181537.3	NP_853515.2			keratin 27									p.S337R(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(3)|skin(1)|stomach(1)	21		Breast(137;0.000812)				CACAGTAGTTACTCTCGGTCT	0.527																																						ENST00000301656.3																			1	Substitution - Missense(1)	p.S337R(1)	kidney(1)	NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(3)|skin(1)|stomach(1)	21						c.(1009-1011)agT>agC		keratin 27							147	146	147					17																	38933946		2203	4300	6503	SO:0001819	synonymous_variant	342574					cytoplasm|intermediate filament	structural molecule activity	g.chr17:38933946A>G	AJ564206	CCDS11375.1	17q21.2	2013-01-16	2006-07-17	2006-07-17	ENSG00000171446	ENSG00000171446		"-", "Intermediate filaments type I, keratins (acidic)"	30841	protein-coding gene	gene with protein product			"keratin 25C"	KRT25C		16831889	Standard	NM_181537		Approved		uc002hvg.3	Q7Z3Y8	OTTHUMG00000133371	ENST00000301656.3:c.1011T>C	17.37:g.38933946A>G						KRT27_ENST00000540723.1_5'UTR	p.S337S	NM_181537.3	NP_853515.2	Q7Z3Y8	K1C27_HUMAN			6	1051	-		Breast(137;0.000812)	337			Coil 2.|Rod.			Silent	SNP	ENST00000301656.3	37	c.1011T>C	CCDS11375.1																																																																																				0.527	KRT27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257216.1	NM_181537		36	156	0	0	0	1	0	36	156					G	38933946	A	G	38933946	2	3	362	1	0	0	0	0	0	0	0	1	8464	388	14	4		4	KRT27	17	38933946	Silent	SNP	A	TCGA-QU-A6IO-01A-11D-A31L-08		38933946	42261264	37	18123											
TBCD	6904	broad.mit.edu	37	chr17	80739569	80739569	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagaccatgcagggggtcaTcaccatggatgggacgctgc	9	6	14	12	1	2	1	2	0	0	1	2	3	2	3	3	4	2	2	3	4	0	0			TCGA-QU-A6IO-01A-11D-A31L-08	TCGA-QU-A6IO-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1610fca4-8d42-4e49-8bac-0e2f2d6bd7c4	3667be24-0cb9-4641-85f0-8d65e011d511	g.chr17:80739569T>C	ENST00000355528.4	+	7	873	c.743T>C	c.(742-744)aTc>aCc	p.I248T	TBCD_ENST00000539345.2_Missense_Mutation_p.I248T|TBCD_ENST00000397466.2_5'UTR	NM_005993.4	NP_005984.3	Q9BTW9	TBCD_HUMAN	tubulin folding cofactor D	248					'de novo' posttranslational protein folding (GO:0051084)|adherens junction assembly (GO:0034333)|cellular protein metabolic process (GO:0044267)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of microtubule polymerization (GO:0031115)|positive regulation of GTPase activity (GO:0043547)|post-chaperonin tubulin folding pathway (GO:0007023)|protein folding (GO:0006457)|tight junction assembly (GO:0070830)	adherens junction (GO:0005912)|cytoplasm (GO:0005737)|lateral plasma membrane (GO:0016328)|microtubule (GO:0005874)|tight junction (GO:0005923)	beta-tubulin binding (GO:0048487)|chaperone binding (GO:0051087)|GTPase activator activity (GO:0005096)					Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0266)|all_epithelial(8;0.0696)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.18)			CAGGGGGTCATCACCATGGAT	0.587											OREG0024827	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000355528.4																			0											c.(742-744)aTc>aCc		tubulin folding cofactor D							79	81	81					17																	80739569		2097	4224	6321	SO:0001583	missense	6904				'de novo' posttranslational protein folding|adherens junction assembly|negative regulation of cell-substrate adhesion|negative regulation of microtubule polymerization|post-chaperonin tubulin folding pathway|tight junction assembly	adherens junction|cytoplasm|lateral plasma membrane|microtubule|tight junction	beta-tubulin binding|chaperone binding|GTPase activator activity	g.chr17:80739569T>C	BC003094	CCDS45818.1	17q25.3	2006-11-21	2006-11-21			ENSG00000141556			11581	protein-coding gene	gene with protein product		604649	"tubulin-specific chaperone d"				Standard	NM_005993		Approved		uc002kfz.3	Q9BTW9		ENST00000355528.4:c.743T>C	17.37:g.80739569T>C	ENSP00000347719:p.Ile248Thr		OREG0024827	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1200	TBCD_ENST00000397466.2_5'UTR|TBCD_ENST00000539345.2_Missense_Mutation_p.I248T	p.I248T	NM_005993.4	NP_005984.3	Q9BTW9	TBCD_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.18)		7	873	+	Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0266)|all_epithelial(8;0.0696)	248					O95458|Q7L8K1|Q8IXP6|Q8NAX0|Q8WYH4|Q96E74|Q9UF82|Q9UG46|Q9Y2J3	Missense_Mutation	SNP	ENST00000355528.4	37	c.743T>C	CCDS45818.1	.	.	.	.	.	.	.	.	.	.	T	8.818	0.936760	0.18206	.	.	ENSG00000141556	ENST00000355528;ENST00000269368;ENST00000536182	T	0.68331	-0.32	5.45	5.45	0.79879	Armadillo-type fold (1);	.	.	.	.	T	0.56601	0.1996	L	0.41027	1.25	0.80722	D	1	B;B;B	0.18166	0.026;0.01;0.013	B;B;B	0.16289	0.005;0.004;0.015	T	0.52215	-0.8605	8	.	.	.	.	13.5081	0.61495	0.0:0.0:0.0:1.0	.	248;248;248	Q9BTW9;Q9BTW9-4;F5H8C7	TBCD_HUMAN;.;.	T	248;231;248	ENSP00000347719:I248T	.	I	+	2	0	TBCD	78332858	1.000000	0.71417	0.959000	0.39883	0.054000	0.15201	5.316000	0.65815	2.082000	0.62665	0.451000	0.29950	ATC		0.587	TBCD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439415.1	NM_005993		19	66	0	0	0	1	0	19	66					C	80739569	T	C	80739569	3	2	362	1	0	0	0	0	1	0	0	0	15630	1435	50	4	769	4	TBCD	17	80739569	Missense_Mutation	SNP	T	TCGA-QU-A6IO-01A-11D-A31L-08	41805623	80739569	455641	38	18124											
LPPR2	64748	broad.mit.edu	37	chr19	11470257	11470257	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcttaccgcctggagttcaCggacaccttccctgtgcaca	7	10	9	15	2	1	0	1	0	0	0	2	2	2	2	4	2	3	3	4	2	1	3			TCGA-QU-A6IO-01A-11D-A31L-08	TCGA-QU-A6IO-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1610fca4-8d42-4e49-8bac-0e2f2d6bd7c4	3667be24-0cb9-4641-85f0-8d65e011d511	g.chr19:11470257C>T	ENST00000251473.5	+	4	492	c.116C>T	c.(115-117)aCg>aTg	p.T39M	DKFZP761J1410_ENST00000586431.1_3'UTR|DKFZP761J1410_ENST00000591608.1_Intron	NM_001170635.1|NM_022737.2	NP_001164106.1|NP_073574.2																					CTGGAGTTCACGGACACCTTC	0.622																																						ENST00000251473.5																			0											c.(115-117)aCg>aTg									125	93	104					19																	11470257		2203	4300	6503	SO:0001583	missense	0							g.chr19:11470257C>T																												ENST00000251473.5:c.116C>T	19.37:g.11470257C>T	ENSP00000251473:p.Thr39Met					DKFZP761J1410_ENST00000586431.1_3'UTR|DKFZP761J1410_ENST00000591608.1_Intron	p.T39M	NM_001170635.1|NM_022737.2	NP_001164106.1|NP_073574.2					4	492	+									Missense_Mutation	SNP	ENST00000251473.5	37	c.116C>T	CCDS12258.1	.	.	.	.	.	.	.	.	.	.	c	23.5	4.420251	0.83559	.	.	ENSG00000105520	ENST00000251473	T	0.47177	0.85	5.27	4.23	0.50019	.	0.000000	0.85682	D	0.000000	T	0.70404	0.3220	M	0.85197	2.74	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.75388	-0.3335	10	0.66056	D	0.02	.	13.0014	0.58679	0.0:0.9203:0.0:0.0797	.	39	Q96GM1	LPPR2_HUMAN	M	39	ENSP00000251473:T39M	ENSP00000251473:T39M	T	+	2	0	AC024575.1	11331257	1.000000	0.71417	0.957000	0.39632	0.995000	0.86356	7.162000	0.77515	1.225000	0.43566	0.443000	0.29094	ACG		0.622	DKFZP761J1410-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458779.1			13	59	0	0	0	1	0	13	59					T	11470257	C	T	11470257	3	4	362	1	0	0	0	0	1	0	0	0	8925	536	19	1	122	1	LPPR2	19	11470257	Missense_Mutation	SNP	C	TCGA-QU-A6IO-01A-11D-A31L-08		11470257	47658726	39	18125											
NLRP2	55655	broad.mit.edu	37	chr19	55496573	55496573	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcctctgacacctgtcatcTccagagagtggtgtaagtag	10	10	11	10	0	3	2	1	1	2	1	4	3	3	2	3	1	1	2	3	1	2	2			TCGA-QU-A6IO-01A-11D-A31L-08	TCGA-QU-A6IO-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1610fca4-8d42-4e49-8bac-0e2f2d6bd7c4	3667be24-0cb9-4641-85f0-8d65e011d511	g.chr19:55496573T>G	ENST00000543010.1	+	7	2332	c.2189T>G	c.(2188-2190)cTc>cGc	p.L730R	NLRP2_ENST00000263437.6_Missense_Mutation_p.L727R|NLRP2_ENST00000339757.7_Missense_Mutation_p.L708R|NLRP2_ENST00000448584.2_Missense_Mutation_p.L730R|NLRP2_ENST00000538819.1_Missense_Mutation_p.L706R|NLRP2_ENST00000427260.2_Missense_Mutation_p.L707R|NLRP2_ENST00000391721.4_Missense_Mutation_p.L706R|NLRP2_ENST00000537859.1_Missense_Mutation_p.L708R	NM_001174081.1	NP_001167552.1	Q9NX02	NALP2_HUMAN	NLR family, pyrin domain containing 2	730					positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of interleukin-1 beta secretion (GO:0050718)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|Pyrin domain binding (GO:0032090)			large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		ACCTGTCATCTCCAGAGAGTG	0.403																																						ENST00000543010.1																			0				large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11						c.(2188-2190)cTc>cGc		NLR family, pyrin domain containing 2							133	119	124					19																	55496573		2203	4300	6503	SO:0001583	missense	55655				apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding	g.chr19:55496573T>G	AK000517	CCDS12913.1, CCDS54318.1, CCDS54319.1	19q13.42	2008-02-05	2006-12-08	2006-12-08	ENSG00000022556	ENSG00000022556		"Nucleotide-binding domain and leucine rich repeat containing"	22948	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 2"	609364	"NACHT, leucine rich repeat and PYD containing 2"	NALP2		12563287, 11270363	Standard	NM_001174081		Approved	FLJ20510, PYPAF2, NBS1, PAN1, CLR19.9	uc021vbq.1	Q9NX02	OTTHUMG00000167763	ENST00000543010.1:c.2189T>G	19.37:g.55496573T>G	ENSP00000445135:p.Leu730Arg					NLRP2_ENST00000339757.7_Missense_Mutation_p.L708R|NLRP2_ENST00000263437.6_Missense_Mutation_p.L727R|NLRP2_ENST00000448584.2_Missense_Mutation_p.L730R|NLRP2_ENST00000427260.2_Missense_Mutation_p.L707R|NLRP2_ENST00000538819.1_Missense_Mutation_p.L706R|NLRP2_ENST00000537859.1_Missense_Mutation_p.L708R|NLRP2_ENST00000391721.4_Missense_Mutation_p.L706R	p.L730R	NM_001174081.1	NP_001167552.1	Q9NX02	NALP2_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)	7	2332	+			730					B4DZL7|I3L0G4|Q53FL5|Q59G09|Q8IXT0|Q9BVN5|Q9H6G6|Q9HAV9|Q9NWK3	Missense_Mutation	SNP	ENST00000543010.1	37	c.2189T>G	CCDS12913.1	.	.	.	.	.	.	.	.	.	.	t	16.06	3.015886	0.54468	.	.	ENSG00000022556	ENST00000543010;ENST00000391721;ENST00000339757;ENST00000448584;ENST00000537859;ENST00000427260;ENST00000538819;ENST00000263437	T;T;T;T;T;T;T;T	0.76186	-1.0;-1.0;-1.0;-1.0;-1.0;-1.0;-1.0;-1.0	2.45	2.45	0.29901	.	0.295773	0.18567	N	0.137457	D	0.83261	0.5216	M	0.83953	2.67	0.22342	N	0.999189	D;D;D;D;D	0.63880	0.993;0.989;0.973;0.989;0.993	P;D;P;D;P	0.67382	0.895;0.951;0.895;0.951;0.895	T	0.71513	-0.4570	10	0.87932	D	0	.	6.8914	0.24232	0.0:0.0:0.0:1.0	.	707;708;727;706;730	B4DZL7;Q9NX02-2;A8K9G6;Q9NX02-4;Q9NX02	.;.;.;.;NALP2_HUMAN	R	730;706;708;730;708;707;706;727	ENSP00000445135:L730R;ENSP00000375601:L706R;ENSP00000344074:L708R;ENSP00000409370:L730R;ENSP00000440601:L708R;ENSP00000402474:L707R;ENSP00000441133:L706R;ENSP00000263437:L727R	ENSP00000263437:L727R	L	+	2	0	NLRP2	60188385	0.368000	0.25031	0.578000	0.28575	0.525000	0.34531	2.256000	0.43231	1.404000	0.46819	0.449000	0.29647	CTC		0.403	NLRP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396152.1	NM_017852		6	83	0	0	0	1	0	6	83					G	55496573	T	G	55496573	3	3	362	1	0	0	0	0	1	0	0	0	10477	1551	54	5	2211	5	NLRP2	19	55496573	Missense_Mutation	SNP	T	TCGA-QU-A6IO-01A-11D-A31L-08	44026316	55496573	3632410	40	18126											
PAX1	5075	broad.mit.edu	37	chr20	21689987	21689987	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gggcccgccgtggccgcctgCgcaaggtcctcctctggcgc	2	6	15	18	5	1	0	0	0	1	0	3	0	3	0	6	4	1	1	6	4	1	0			TCGA-QU-A6IO-01A-11D-A31L-08	TCGA-QU-A6IO-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1610fca4-8d42-4e49-8bac-0e2f2d6bd7c4	3667be24-0cb9-4641-85f0-8d65e011d511	g.chr20:21689987C>T	ENST00000398485.2	+	4	1241	c.1187C>T	c.(1186-1188)gCg>gTg	p.A396V	PAX1_ENST00000460221.1_3'UTR|PAX1_ENST00000444366.2_Missense_Mutation_p.A372V	NM_001257096.1|NM_006192.4	NP_001244025.1|NP_006183.2	P15863	PAX1_HUMAN	paired box 1	396					bone morphogenesis (GO:0060349)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|CD8-positive, alpha-beta T cell differentiation (GO:0043374)|cell proliferation (GO:0008283)|parathyroid gland development (GO:0060017)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|sclerotome development (GO:0061056)|skeletal system development (GO:0001501)|somitogenesis (GO:0001756)|thymus development (GO:0048538)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)			autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(21)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	38						TGGCCGCCTGCGCAAGGTCCT	0.736																																						ENST00000398485.2																			0				autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(21)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	38						c.(1186-1188)gCg>gTg		paired box 1							11	15	13					20																	21689987		1983	3804	5787	SO:0001583	missense	5075				regulation of transcription, DNA-dependent|skeletal system development|transcription from RNA polymerase II promoter	nucleus	DNA binding	g.chr20:21689987C>T		CCDS13146.2, CCDS74709.1	20p11.22	2007-07-12	2007-07-12		ENSG00000125813	ENSG00000125813		"Paired boxes"	8615	protein-coding gene	gene with protein product		167411	"paired box gene 1"			1358810	Standard	NM_006192		Approved		uc002wsj.3	P15863	OTTHUMG00000032034	ENST00000398485.2:c.1187C>T	20.37:g.21689987C>T	ENSP00000381499:p.Ala396Val					PAX1_ENST00000460221.1_3'UTR|PAX1_ENST00000444366.2_Missense_Mutation_p.A372V	p.A396V	NM_001257096.1|NM_006192.4	NP_001244025.1|NP_006183.2	P15863	PAX1_HUMAN			4	1241	+			396					B4E0D6|Q642X9|Q6NTC0|Q9Y558	Missense_Mutation	SNP	ENST00000398485.2	37	c.1187C>T	CCDS13146.2	.	.	.	.	.	.	.	.	.	.	C	19.59	3.856350	0.71834	.	.	ENSG00000125813	ENST00000398485;ENST00000444366	D;D	0.98381	-4.46;-4.9	5.66	5.66	0.87406	.	3.629300	0.01720	N	0.028226	D	0.97464	0.9170	N	0.24115	0.695	0.39898	D	0.973868	D;D;D	0.67145	0.991;0.985;0.996	P;B;P	0.47786	0.452;0.265;0.557	D	0.88499	0.3081	10	0.72032	D	0.01	.	19.347	0.94367	0.0:1.0:0.0:0.0	.	372;302;396	P15863-2;C9J775;P15863	.;.;PAX1_HUMAN	V	396;372	ENSP00000381499:A396V;ENSP00000410355:A372V	ENSP00000381499:A396V	A	+	2	0	PAX1	21637987	0.917000	0.31117	0.166000	0.22797	0.321000	0.28281	4.068000	0.57534	2.667000	0.90743	0.462000	0.41574	GCG		0.736	PAX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078282.3			5	17	0	0	0	1	0	5	17					T	21689987	C	T	21689987	3	4	362	1	0	0	0	0	1	0	0	0	11478	768	27	1	1201	1	PAX1	20	21689987	Missense_Mutation	SNP	C	TCGA-QU-A6IO-01A-11D-A31L-08		21689987	41335533	41	18127											
RBM39	9584	broad.mit.edu	37	chr20	34312500	34312500	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	caaaaaaattacctgtgatgCctgtactatgattggcacgc	13	11	8	9	1	0	2	0	2	0	0	0	2	0	2	2	1	3	2	2	1	6	4			TCGA-QU-A6IO-01A-11D-A31L-08	TCGA-QU-A6IO-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1610fca4-8d42-4e49-8bac-0e2f2d6bd7c4	3667be24-0cb9-4641-85f0-8d65e011d511	g.chr20:34312500C>T	ENST00000253363.6	-	8	702	c.679G>A	c.(679-681)Gca>Aca	p.A227T	RBM39_ENST00000528062.3_Missense_Mutation_p.A205T|RBM39_ENST00000361162.6_Missense_Mutation_p.A227T|RBM39_ENST00000407261.4_Missense_Mutation_p.A70T			Q14498	RBM39_HUMAN	RNA binding motif protein 39	227	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA processing (GO:0006397)|regulation of transcription, DNA-templated (GO:0006355)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	microtubule cytoskeleton (GO:0015630)|microtubule organizing center (GO:0005815)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.A227T(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	all_epithelial(2;0.00295)|Lung NSC(9;0.00453)|Breast(12;0.00544)|all_lung(11;0.00676)					ACCTGTGATGCCTGTACTATG	0.433																																						ENST00000361162.6																			1	Substitution - Missense(1)	p.A227T(1)	skin(1)	breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35						c.(679-681)Gca>Aca		RNA binding motif protein 39							115	104	108					20																	34312500		2203	4300	6503	SO:0001583	missense	9584				mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|transcription, DNA-dependent	centrosome|nuclear speck	nucleotide binding|protein binding|RNA binding	g.chr20:34312500C>T	L10910	CCDS13265.1, CCDS13266.1, CCDS56186.1	20q11.22	2014-07-03	2006-07-11	2006-07-11	ENSG00000131051	ENSG00000131051		"RNA binding motif (RRM) containing"	15923	protein-coding gene	gene with protein product	"coactivator of activating protein-1 and estrogen receptors", "functional spliceosome-associated protein 59"	604739	"RNA-binding region (RNP1, RRM) containing 2"	RNPC2		8227358, 15694343, 21551269	Standard	NM_184234		Approved	CC1.3, HCC1, CAPER, fSAP59, CAPERalpha	uc002xeb.3	Q14498	OTTHUMG00000032358	ENST00000253363.6:c.679G>A	20.37:g.34312500C>T	ENSP00000253363:p.Ala227Thr					RBM39_ENST00000253363.6_Missense_Mutation_p.A227T|RBM39_ENST00000407261.4_Missense_Mutation_p.A70T|RBM39_ENST00000528062.3_Missense_Mutation_p.A205T	p.A227T	NM_004902.3|NM_184234.2	NP_004893.1|NP_909122.1	Q14498	RBM39_HUMAN			8	1063	-	all_epithelial(2;0.00295)|Lung NSC(9;0.00453)|Breast(12;0.00544)|all_lung(11;0.00676)		227			RRM 1.		A2RRD3|A5D8W2|B0BLV3|E1P5S0|E1P5S1|Q14499	Missense_Mutation	SNP	ENST00000253363.6	37	c.679G>A	CCDS13266.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.4|20.4	3.989288|3.989288	0.74589|0.74589	.|.	.|.	ENSG00000131051|ENSG00000131051	ENST00000253363;ENST00000361162;ENST00000528062;ENST00000407261;ENST00000374038|ENST00000448303	T;T;T;T;T|.	0.42131|.	0.98;0.98;0.98;3.37;0.98|.	5.36|5.36	5.36|5.36	0.76844|0.76844	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.68238|0.68238	0.2979|0.2979	L|L	0.42632|0.42632	1.34|1.34	0.80722|0.80722	D|D	1|1	P;P;P;P;B|.	0.50943|.	0.94;0.94;0.939;0.94;0.404|.	P;P;P;P;B|.	0.52267|.	0.601;0.694;0.583;0.694;0.184|.	T|T	0.63400|0.63400	-0.6646|-0.6646	10|5	0.22706|.	T|.	0.39|.	.|.	19.5083|19.5083	0.95130|0.95130	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	205;205;227;227;203|.	B4DRA0;A2RRD3;Q14498-2;Q14498;B3KWX7|.	.;.;.;RBM39_HUMAN;.|.	T|D	227;227;205;70;226|99	ENSP00000253363:A227T;ENSP00000354437:A227T;ENSP00000436747:A205T;ENSP00000384541:A70T;ENSP00000363150:A226T|.	ENSP00000253363:A227T|.	A|G	-|-	1|2	0|0	RBM39|RBM39	33775914|33775914	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	7.767000|7.767000	0.85331|0.85331	2.672000|2.672000	0.90937|0.90937	0.558000|0.558000	0.71614|0.71614	GCA|GGC		0.433	RBM39-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000078931.2	NM_184237		20	58	0	0	0	1	0	20	58					T	34312500	C	T	34312500	3	4	362	1	0	0	0	0	1	0	0	0	13133	739	26	3	953	3	RBM39	20	34312500	Missense_Mutation	SNP	C	TCGA-QU-A6IO-01A-11D-A31L-08	12622513	34312500	28713020	42	18128											
DSN1	79980	broad.mit.edu	37	chr20	35383221	35383221	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctttcatccataaaggcctgCagctgtttcactgatccttg	8	14	7	12	0	2	1	2	1	0	0	4	1	4	1	3	1	2	3	3	1	2	4			TCGA-QU-A6IO-01A-11D-A31L-08	TCGA-QU-A6IO-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1610fca4-8d42-4e49-8bac-0e2f2d6bd7c4	3667be24-0cb9-4641-85f0-8d65e011d511	g.chr20:35383221C>T	ENST00000426836.1	-	10	1278	c.906G>A	c.(904-906)ctG>ctA	p.L302L	DSN1_ENST00000448110.2_Silent_p.L286L|DSN1_ENST00000473615.1_5'UTR|DSN1_ENST00000373745.3_Silent_p.L302L|DSN1_ENST00000373750.4_Silent_p.L302L|DSN1_ENST00000373734.4_Silent_p.L195L|DSN1_ENST00000373740.3_Silent_p.L230L	NM_001145316.1	NP_001138788.1	Q9H410	DSN1_HUMAN	DSN1, MIS12 kinetochore complex component	302					chromosome segregation (GO:0007059)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	cytosol (GO:0005829)|MIS12/MIND type complex (GO:0000444)|nucleus (GO:0005634)				endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	16		Myeloproliferative disorder(115;0.00874)				TAAAGGCCTGCAGCTGTTTCA	0.473																																						ENST00000426836.1																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	16						c.(904-906)ctG>ctA		DSN1, MIS12 kinetochore complex component							99	83	88					20																	35383221		2203	4300	6503	SO:0001819	synonymous_variant	79980				cell division|chromosome segregation|mitotic prometaphase	cytosol|MIS12/MIND type complex|nucleus	protein binding	g.chr20:35383221C>T	AK023408	CCDS13286.1, CCDS46596.1, CCDS46597.1	20q11.23	2013-07-03	2013-07-03	2006-11-07	ENSG00000149636	ENSG00000149636			16165	protein-coding gene	gene with protein product	"kinetochore null 3 homolog (C. elegans)"	609175	"chromosome 20 open reading frame 172", "DSN1, MIND kinetochore complex component, homolog (S. cerevisiae)"	C20orf172		16585270, 20819937	Standard	NM_001145315		Approved	dJ469A13.2, MIS13, KNL3, hKNL-3	uc002xfz.3	Q9H410	OTTHUMG00000032396	ENST00000426836.1:c.906G>A	20.37:g.35383221C>T						DSN1_ENST00000448110.1_Silent_p.L286L|DSN1_ENST00000373734.4_Silent_p.L195L|DSN1_ENST00000473615.1_5'UTR|DSN1_ENST00000373740.3_Silent_p.L230L|DSN1_ENST00000373745.3_Silent_p.L302L|DSN1_ENST00000373750.4_Silent_p.L302L	p.L302L	NM_001145316.1	NP_001138788.1	Q9H410	DSN1_HUMAN			10	1278	-		Myeloproliferative disorder(115;0.00874)	302					B4DWT2|E1P5U9|Q5JW55|Q5JW56|Q9H8P4	Silent	SNP	ENST00000426836.1	37	c.906G>A	CCDS13286.1																																																																																				0.473	DSN1-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079043.2	NM_024918		12	49	0	0	0	1	0	12	49					T	35383221	C	T	35383221	2	4	362	1	0	0	0	0	0	0	0	1	4780	697	25	3		3	DSN1	20	35383221	Silent	SNP	C	TCGA-QU-A6IO-01A-11D-A31L-08	1070721	35383221	27642299	43	18129											
HNF4A	3172	broad.mit.edu	37	chr20	43056985	43056985	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctacctgcagggtcccccagCgatgcaccccatgcccacca	8	5	8	20	1	0	0	0	0	0	0	1	1	1	0	7	1	5	2	7	1	1	1			TCGA-QU-A6IO-01A-11D-A31L-08	TCGA-QU-A6IO-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1610fca4-8d42-4e49-8bac-0e2f2d6bd7c4	3667be24-0cb9-4641-85f0-8d65e011d511	g.chr20:43056985C>T	ENST00000316099.4	+	9	1229	c.1140C>T	c.(1138-1140)agC>agT	p.S380S	HNF4A_ENST00000316673.4_Silent_p.S358S|HNF4A_ENST00000415691.2_Silent_p.S380S|HNF4A_ENST00000457232.1_Silent_p.S358S	NM_000457.4|NM_001258355.1|NM_178849.2	NP_000448.3|NP_001245284.1|NP_849180.1	P41235	HNF4A_HUMAN	hepatocyte nuclear factor 4, alpha	380					blood coagulation (GO:0007596)|endocrine pancreas development (GO:0031018)|gene expression (GO:0010467)|glucose homeostasis (GO:0042593)|lipid homeostasis (GO:0055088)|lipid metabolic process (GO:0006629)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|ornithine metabolic process (GO:0006591)|phospholipid homeostasis (GO:0055091)|positive regulation of cholesterol homeostasis (GO:2000189)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of gastrulation (GO:0010470)|regulation of growth hormone receptor signaling pathway (GO:0060398)|regulation of insulin secretion (GO:0050796)|regulation of lipid metabolic process (GO:0019216)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to glucose (GO:0009749)|sex differentiation (GO:0007548)|signal transduction involved in regulation of gene expression (GO:0023019)|SMAD protein signal transduction (GO:0060395)|transcription initiation from RNA polymerase II promoter (GO:0006367)|triglyceride homeostasis (GO:0070328)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|fatty acid binding (GO:0005504)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			endometrium(4)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	34		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			GGTCCCCCAGCGATGCACCCC	0.592																																					Colon(79;2 1269 8820 14841 52347)	ENST00000316099.3																			0				endometrium(4)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	34						c.(1138-1140)agC>agT		hepatocyte nuclear factor 4, alpha							104	81	88					20																	43056985		2203	4300	6503	SO:0001819	synonymous_variant	3172				blood coagulation|endocrine pancreas development|glucose homeostasis|negative regulation of cell growth|negative regulation of cell proliferation|ornithine metabolic process|phospholipid homeostasis|positive regulation of cholesterol homeostasis|regulation of growth hormone receptor signaling pathway|regulation of insulin secretion|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to glucose stimulus|triglyceride homeostasis|xenobiotic metabolic process	cytoplasm	activating transcription factor binding|protein homodimerization activity|receptor binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr20:43056985C>T	X76930	CCDS13330.1, CCDS13331.1, CCDS42876.1, CCDS46604.1, CCDS46605.1, CCDS68131.1, CCDS74728.1	20q13.12	2014-09-17			ENSG00000101076	ENSG00000101076		"Nuclear hormone receptors"	5024	protein-coding gene	gene with protein product		600281		TCF14, MODY, MODY1		7926813, 9048927	Standard	NM_001030003		Approved	NR2A1, HNF4	uc010zwo.1	P41235	OTTHUMG00000032531	ENST00000316099.4:c.1140C>T	20.37:g.43056985C>T						HNF4A_ENST00000457232.1_Silent_p.S358S|HNF4A_ENST00000415691.1_Silent_p.S380S	p.S380S	NM_000457.4|NM_001258355.1	NP_000448.3|NP_001245284.1	P41235	HNF4A_HUMAN	COAD - Colon adenocarcinoma(18;0.00189)		9	1229	+		Myeloproliferative disorder(115;0.0122)	380					A5JW41|B2RPP8|O00659|O00723|Q14540|Q5QPB8|Q6B4V5|Q6B4V6|Q6B4V7|Q92653|Q92654|Q92655|Q99864|Q9NQH0	Silent	SNP	ENST00000316099.4	37	c.1140C>T	CCDS13330.1																																																																																				0.592	HNF4A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079363.3			21	71	0	0	0	1	0	21	71					T	43056985	C	T	43056985	2	4	362	1	0	0	0	0	0	0	0	1	7253	767	27	1		1	HNF4A	20	43056985	Silent	SNP	C	TCGA-QU-A6IO-01A-11D-A31L-08	7673764	43056985	19968535	44	18130											
TIAM1	7074	broad.mit.edu	37	chr21	32526716	32526716	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggttcatctcatgcaaactgCggcaaaatgcggccacctgt	10	9	10	12	2	2	0	2	0	1	0	3	0	2	0	2	3	4	3	2	3	3	1	rs77092908	byFrequency	TCGA-QU-A6IO-01A-11D-A31L-08	TCGA-QU-A6IO-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1610fca4-8d42-4e49-8bac-0e2f2d6bd7c4	3667be24-0cb9-4641-85f0-8d65e011d511	g.chr21:32526716C>T	ENST00000286827.3	-	18	3491	c.3020G>A	c.(3019-3021)cGc>cAc	p.R1007H	TIAM1_ENST00000541036.1_Missense_Mutation_p.R947H	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	1007			R -> H (in dbSNP:rs77092908). {ECO:0000269|PubMed:22100072}.		apoptotic signaling pathway (GO:0097190)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|ephrin receptor signaling pathway (GO:0048013)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axonogenesis (GO:0050772)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|Rac protein signal transduction (GO:0016601)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell-cell contact zone (GO:0044291)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)	phospholipid binding (GO:0005543)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|receptor signaling protein activity (GO:0005057)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						ATGCAAACTGCGGCAAAATGC	0.577													C|||	7	0.00139776	0.0053	0	5008	,	,		19064	0		0	False		,,,				2504	0					ENST00000286827.3																			0				autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						c.(3019-3021)cGc>cAc		T-cell lymphoma invasion and metastasis 1		C	HIS/ARG	23,4383	29.9+/-59.1	1,21,2181	127	114	118		3020	4.5	1	21	dbSNP_131	118	0,8600		0,0,4300	yes	missense	TIAM1	NM_003253.2	29	1,21,6481	TT,TC,CC		0.0,0.522,0.1768	probably-damaging	1007/1592	32526716	23,12983	2203	4300	6503	SO:0001583	missense	7074				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cell-cell junction|cytosol	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity	g.chr21:32526716C>T		CCDS13609.1	21q22.1	2013-01-10			ENSG00000156299	ENSG00000156299		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	11805	protein-coding gene	gene with protein product		600687				8595894, 15340013	Standard	NM_003253		Approved		uc002yow.1	Q13009	OTTHUMG00000084869	ENST00000286827.3:c.3020G>A	21.37:g.32526716C>T	ENSP00000286827:p.Arg1007His					TIAM1_ENST00000541036.1_Missense_Mutation_p.R947H	p.R1007H	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN			18	3491	-			1007					B7ZLR6|F5GZ53|Q17RT7	Missense_Mutation	SNP	ENST00000286827.3	37	c.3020G>A	CCDS13609.1	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	C	27.6	4.848438	0.91277	0.00522	0.0	ENSG00000156299	ENST00000286827;ENST00000399841;ENST00000541036	T;T	0.49139	0.79;0.82	5.41	4.46	0.54185	.	0.056451	0.64402	D	0.000001	T	0.47322	0.1439	L	0.31752	0.955	0.80722	D	1	D;D;D	0.76494	0.999;0.96;0.999	D;B;P	0.63703	0.917;0.325;0.828	T	0.55761	-0.8090	10	0.66056	D	0.02	.	16.8018	0.85616	0.137:0.863:0.0:0.0	.	947;947;1007	F5GZ53;B7ZLR6;Q13009	.;.;TIAM1_HUMAN	H	1007;848;947	ENSP00000286827:R1007H;ENSP00000441570:R947H	ENSP00000286827:R1007H	R	-	2	0	TIAM1	31448587	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.283000	0.78640	2.826000	0.97356	0.655000	0.94253	CGC		0.577	TIAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000192552.1	NM_003253		4	105	0	0	0	1	0	4	105					T	32526716	C	T	32526716	3	4	362	1	0	0	0	0	1	0	0	0	15887	768	27	1	1803	1	TIAM1	21	32526716	Missense_Mutation	SNP	C	TCGA-QU-A6IO-01A-11D-A31L-08		32526716	15603179	45	18131											
ARID1A	8289	broad.mit.edu	37	chr1	27023620	27023621	+	In_Frame_Ins	INS	-	-	GCG																															gtggcactccgggctccggcINSgcggcggcggctgccggctc																										TCGA-QU-A6IP-01A-11D-A31L-08	TCGA-QU-A6IP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8522e5d6-2758-432a-a023-6e6dc07e9893	148f3b38-a40b-4815-a3b4-d00c41470ae4	g.chr1:27023620_27023621insGCG	ENST00000324856.7	+	1	1097_1098	c.726_727insGCG	c.(727-729)gcg>GCGgcg	p.243_243A>AA	ARID1A_ENST00000457599.2_In_Frame_Ins_p.243_243A>AA|RP5-968P14.2_ENST00000569378.1_RNA	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	243					androgen receptor signaling pathway (GO:0030521)|ATP-dependent chromatin remodeling (GO:0043044)|cardiac chamber development (GO:0003205)|chromatin remodeling (GO:0006338)|chromatin-mediated maintenance of transcription (GO:0048096)|forebrain development (GO:0030900)|glucocorticoid receptor signaling pathway (GO:0042921)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|nucleosome disassembly (GO:0006337)|nucleosome mobilization (GO:0042766)|optic cup formation involved in camera-type eye development (GO:0003408)|placenta blood vessel development (GO:0060674)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|transcription coactivator activity (GO:0003713)		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		CGGGCTCCGGCGCGGCGGCGGC	0.738			"Mis, N, F, S, D"		"clear cell ovarian carcinoma, RCC"																																	ENST00000324856.7				Rec	yes		1	1p35.3	8289	"Mis, N, F, S, D"	AT rich interactive domain 1A (SWI-like)			E			"clear cell ovarian carcinoma, RCC"	ARID1A/MAST2_ENST00000361297(2)	0				NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411						c.(724-729)ggcggc>ggGCGcggc		AT rich interactive domain 1A (SWI-like)																																				SO:0001652	inframe_insertion	8289				androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding	g.chr1:27023620_27023621insGCG	AB001895	CCDS285.1, CCDS44091.1	1p36.1-p35	2014-09-17	2006-11-08	2004-01-30	ENSG00000117713	ENSG00000117713		"-"	11110	protein-coding gene	gene with protein product		603024	"SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily f, member 1", "AT rich interactive domain 1A (SWI- like)"	C1orf4, SMARCF1		9630625, 9434167	Standard	NM_139135		Approved	B120, P270, C10rf4, BAF250, BAF250a	uc001bmv.1	O14497	OTTHUMG00000004004	ENST00000324856.7:c.733_735dupGCG	1.37:g.27023627_27023629dupGCG	ENSP00000320485:p.Ala247dup					ARID1A_ENST00000457599.2_In_Frame_Ins_p.242_243GG>GRG	p.242_243GG>GRG	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)	1	1097_1098	+		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	242					D3DPL1|Q53FK9|Q5T0W1|Q5T0W2|Q5T0W3|Q8NFD6|Q96T89|Q9BY33|Q9HBJ5|Q9UPZ1	In_Frame_Ins	INS	ENST00000324856.7	37	c.726_727insGCG	CCDS285.1																																																																																				0.738	ARID1A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000011437.2	NM_139135		4	4						4	4	---	---	---	---	GCG	27023621	-	GCG	27023620	7	5	363	1	0	1	1	0	0	0	0	0	913	755	27	0	728	0	ARID1A	1	27023620	In_Frame_Ins	INS	-	TCGA-QU-A6IP-01A-11D-A31L-08		27023620	222227001	1	18132											
FAF1	11124	broad.mit.edu	37	chr1	51049325	51049325	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gttaatgtcctaaccctaccTtgaagaaaactctgctgtaa	13	12	6	10	0	1	2	0	1	1	1	2	2	2	2	3	0	4	3	3	0	7	5			TCGA-QU-A6IP-01A-11D-A31L-08	TCGA-QU-A6IP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8522e5d6-2758-432a-a023-6e6dc07e9893	148f3b38-a40b-4815-a3b4-d00c41470ae4	g.chr1:51049325T>C	ENST00000396153.2	-	11	1481	c.1030A>G	c.(1030-1032)Aga>Gga	p.R344G	RNU6-1026P_ENST00000384465.1_RNA|FAF1_ENST00000545823.1_Splice_Site_p.R102G|FAF1_ENST00000472808.1_5'UTR|FAF1_ENST00000371778.4_Splice_Site_p.R344G	NM_007051.2	NP_008982.1	Q9UNN5	FAF1_HUMAN	Fas (TNFRSF6) associated factor 1	344					apoptotic process (GO:0006915)|cell death (GO:0008219)|cytoplasmic sequestering of NF-kappaB (GO:0007253)|positive regulation of apoptotic process (GO:0043065)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of protein complex assembly (GO:0031334)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|regulation of cell adhesion (GO:0030155)|regulation of protein catabolic process (GO:0042176)|regulation of protein kinase activity (GO:0045859)	CD95 death-inducing signaling complex (GO:0031265)|Cdc48p-Npl4p-Ufd1p AAA ATPase complex (GO:0034098)|cytosol (GO:0005829)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	heat shock protein binding (GO:0031072)|NF-kappaB binding (GO:0051059)|protein kinase binding (GO:0019901)|protein kinase regulator activity (GO:0019887)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)	p.0?(1)		breast(2)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|pancreas(2)|upper_aerodigestive_tract(1)	24				GBM - Glioblastoma multiforme(3;3.18e-11)|all cancers(3;0.00526)		TAACCCTACCTTGAAGAAAAC	0.289																																						ENST00000396153.2																			1	Whole gene deletion(1)	p.0?(1)	thyroid(1)	breast(2)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|pancreas(2)|upper_aerodigestive_tract(1)	24						c.e11+1		Fas (TNFRSF6) associated factor 1							131	134	133					1																	51049325		2202	4300	6502	SO:0001630	splice_region_variant	11124				apoptosis|cytoplasmic sequestering of NF-kappaB|positive regulation of apoptosis|positive regulation of protein complex assembly|proteasomal ubiquitin-dependent protein catabolic process|regulation of protein catabolic process	CD95 death-inducing signaling complex|cytosol|perinuclear region of cytoplasm	heat shock protein binding|NF-kappaB binding|protein kinase binding|protein kinase regulator activity	g.chr1:51049325T>C	AF132938	CCDS554.1	1p32.3	2012-09-20			ENSG00000185104	ENSG00000185104		"UBX domain containing"	3578	protein-coding gene	gene with protein product	"TNFRSF6-associated factor 1", "UBX domain protein 3A"	604460				10462485	Standard	NM_007051		Approved	CGI-03, hFAF1, HFAF1s, UBXD12, UBXN3A	uc001cse.1	Q9UNN5	OTTHUMG00000007930	ENST00000396153.2:c.1031+1A>G	1.37:g.51049325T>C						FAF1_ENST00000472808.1_5'UTR|FAF1_ENST00000545823.1_Splice_Site_p.R102_splice|FAF1_ENST00000371778.4_Splice_Site_p.R344_splice	p.R344_splice	NM_007051.2	NP_008982.1	Q9UNN5	FAF1_HUMAN		GBM - Glioblastoma multiforme(3;3.18e-11)|all cancers(3;0.00526)	11	1481	-			344					Q549F0|Q9UF34|Q9UNT3|Q9Y2Z3	Splice_Site	SNP	ENST00000396153.2	37	c.1031_splice	CCDS554.1	.	.	.	.	.	.	.	.	.	.	T	24.3	4.520812	0.85495	.	.	ENSG00000185104	ENST00000396153;ENST00000371778;ENST00000545823;ENST00000371780	T;T;T	0.41758	0.99;0.99;0.99	5.62	5.62	0.85841	UAS (1);	0.000000	0.85682	D	0.000000	T	0.66137	0.2759	M	0.78916	2.43	0.80722	D	1	D;D	0.71674	0.998;0.998	D;D	0.80764	0.992;0.994	T	0.70612	-0.4824	10	0.72032	D	0.01	-20.3989	15.8195	0.78628	0.0:0.0:0.0:1.0	.	102;344	B4DEJ6;Q9UNN5	.;FAF1_HUMAN	G	344;344;102;184	ENSP00000379457:R344G;ENSP00000360843:R344G;ENSP00000438870:R102G	ENSP00000360843:R344G	R	-	1	2	FAF1	50821913	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.476000	0.66793	2.132000	0.65825	0.528000	0.53228	AGA		0.289	FAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021807.1	NM_007051	Missense_Mutation	10	31	0	0	0	1	0	10	31					C	51049325	T	C	51049325	5	2	363	1	0	0	0	0	0	0	1	0	5369	1623	56	4	958	4	FAF1	1	51049325	Splice_Site	SNP	T	TCGA-QU-A6IP-01A-11D-A31L-08	24025705	51049325	198201296	2	18133											
PROX1	5629	broad.mit.edu	37	chr1	214171320	214171320	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttcaccacgtccaccttccGccaccccttcccccttccct	4	10	2	25	2	1	0	1	0	0	0	5	0	5	0	10	0	0	0	10	0	0	4			TCGA-QU-A6IP-01A-11D-A31L-08	TCGA-QU-A6IP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8522e5d6-2758-432a-a023-6e6dc07e9893	148f3b38-a40b-4815-a3b4-d00c41470ae4	g.chr1:214171320G>A	ENST00000366958.4	+	2	2050	c.1442G>A	c.(1441-1443)cGc>cAc	p.R481H	PROX1_ENST00000498508.2_Missense_Mutation_p.R481H|PROX1_ENST00000435016.1_Missense_Mutation_p.R481H|PROX1_ENST00000261454.4_Missense_Mutation_p.R481H	NM_001270616.1	NP_001257545.1	Q92786	PROX1_HUMAN	prospero homeobox 1	481					aorta smooth muscle tissue morphogenesis (GO:0060414)|atrial cardiac muscle tissue morphogenesis (GO:0055009)|brain development (GO:0007420)|cell fate determination (GO:0001709)|cerebellar granule cell differentiation (GO:0021707)|dentate gyrus development (GO:0021542)|dorsal spinal cord development (GO:0021516)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|endocardium formation (GO:0060214)|hepatocyte cell migration (GO:0002194)|hepatocyte differentiation (GO:0070365)|hepatocyte proliferation (GO:0072574)|kidney development (GO:0001822)|lens development in camera-type eye (GO:0002088)|lens fiber cell morphogenesis (GO:0070309)|liver development (GO:0001889)|lung development (GO:0030324)|lymphangiogenesis (GO:0001946)|lymphatic endothelial cell differentiation (GO:0060836)|negative regulation of bile acid biosynthetic process (GO:0070858)|negative regulation of cell proliferation (GO:0008285)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of viral genome replication (GO:0045071)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|olfactory placode formation (GO:0030910)|optic placode formation involved in camera-type eye formation (GO:0046619)|otic placode formation (GO:0043049)|pancreas development (GO:0031016)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell cycle checkpoint (GO:1901978)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045737)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of forebrain neuron differentiation (GO:2000979)|positive regulation of heart growth (GO:0060421)|positive regulation of neural precursor cell proliferation (GO:2000179)|positive regulation of sarcomere organization (GO:0060298)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of circadian rhythm (GO:0042752)|regulation of gene expression (GO:0010468)|regulation of transcription involved in lymphatic endothelial cell fate commitment (GO:0060849)|response to nutrient levels (GO:0031667)|retina morphogenesis in camera-type eye (GO:0060042)|skeletal muscle thin filament assembly (GO:0030240)|venous blood vessel morphogenesis (GO:0048845)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|ventricular cardiac myofibril assembly (GO:0055005)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|DBD domain binding (GO:0050692)|DNA binding (GO:0003677)|LBD domain binding (GO:0050693)|ligand-dependent nuclear receptor binding (GO:0016922)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|prostate(2)|skin(4)	47				OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219)		TCCACCTTCCGCCACCCCTTC	0.637																																						ENST00000366958.4																			0				autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|prostate(2)|skin(4)	47						c.(1441-1443)cGc>cAc		prospero homeobox 1							79	91	87					1																	214171320		2203	4300	6503	SO:0001583	missense	5629				aorta smooth muscle tissue morphogenesis|atrial cardiac muscle tissue morphogenesis|brain development|dorsal spinal cord development|embryonic retina morphogenesis in camera-type eye|endocardium formation|hepatocyte differentiation|kidney development|lens fiber cell morphogenesis|lung development|lymphangiogenesis|negative regulation of bile acid biosynthetic process|negative regulation of cell proliferation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of viral genome replication|neural tube development|olfactory placode formation|optic placode formation involved in camera-type eye formation|otic placode formation|pancreas development|positive regulation of cyclin-dependent protein kinase activity|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of heart growth|positive regulation of S phase of mitotic cell cycle|positive regulation of sarcomere organization|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment|skeletal muscle thin filament assembly|venous blood vessel morphogenesis|ventricular cardiac muscle tissue morphogenesis|ventricular cardiac myofibril development|ventricular septum morphogenesis	cytoplasm|nucleus	DBD domain binding|LBD domain binding|ligand-dependent nuclear receptor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding	g.chr1:214171320G>A	U44060	CCDS31021.1	1q41	2011-06-20	2007-06-01		ENSG00000117707	ENSG00000117707		"Homeoboxes / PROS class"	9459	protein-coding gene	gene with protein product		601546	"prospero-related homeobox 1"			8812486	Standard	NM_002763		Approved		uc001hkg.2	Q92786	OTTHUMG00000036946	ENST00000366958.4:c.1442G>A	1.37:g.214171320G>A	ENSP00000355925:p.Arg481His					PROX1_ENST00000435016.1_Missense_Mutation_p.R481H|PROX1_ENST00000261454.4_Missense_Mutation_p.R481H|PROX1_ENST00000498508.2_Missense_Mutation_p.R481H	p.R481H	NM_001270616.1	NP_001257545.1	Q92786	PROX1_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219)	2	2050	+			481					A6NK29|A8K2B1|Q5SW76|Q8TB91	Missense_Mutation	SNP	ENST00000366958.4	37	c.1442G>A	CCDS31021.1	.	.	.	.	.	.	.	.	.	.	G	17.99	3.523260	0.64747	.	.	ENSG00000117707	ENST00000541470;ENST00000498508;ENST00000366958;ENST00000435016;ENST00000261454	T;T;T;T	0.48836	0.81;0.8;0.81;0.81	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	T	0.68449	0.3002	M	0.65975	2.015	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.63594	-0.6602	10	0.33940	T	0.23	-3.8807	19.8546	0.96752	0.0:0.0:1.0:0.0	.	481	Q92786	PROX1_HUMAN	H	53;481;481;481;481	ENSP00000420283:R481H;ENSP00000355925:R481H;ENSP00000400694:R481H;ENSP00000261454:R481H	ENSP00000261454:R481H	R	+	2	0	PROX1	212237943	1.000000	0.71417	1.000000	0.80357	1.000000	0.99986	9.863000	0.99569	2.697000	0.92050	0.655000	0.94253	CGC		0.637	PROX1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089727.6	NM_002763		23	129	0	0	0	1	0	23	129					A	214171320	G	A	214171320	3	1	363	1	0	0	0	0	1	0	0	0	12560	1087	38	1	1444	1	PROX1	1	214171320	Missense_Mutation	SNP	G	TCGA-QU-A6IP-01A-11D-A31L-08	163121995	214171320	35079301	3	18134											
PPM1G	5496	broad.mit.edu	37	chr2	27608655	27608655	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttctttttcatcttcatccTcagtgggtcgccctgcaatc	5	17	6	13	1	5	0	3	0	2	0	8	0	6	0	2	1	1	1	2	1	1	4			TCGA-QU-A6IP-01A-11D-A31L-08	TCGA-QU-A6IP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8522e5d6-2758-432a-a023-6e6dc07e9893	148f3b38-a40b-4815-a3b4-d00c41470ae4	g.chr2:27608655T>C	ENST00000344034.4	-	4	632	c.368A>G	c.(367-369)gAg>gGg	p.E123G	PPM1G_ENST00000350803.4_Missense_Mutation_p.E123G	NM_177983.2	NP_817092.1	O15355	PPM1G_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1G	123					cell cycle arrest (GO:0007050)|peptidyl-threonine dephosphorylation (GO:0035970)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)			endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	19	Acute lymphoblastic leukemia(172;0.155)					ATCTTCATCCTCAGTGGGTCG	0.403																																						ENST00000344034.4																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	19						c.(367-369)gAg>gGg		protein phosphatase, Mg2+/Mn2+ dependent, 1G							142	136	138					2																	27608655		2203	4300	6503	SO:0001583	missense	5496				cell cycle arrest|protein dephosphorylation	cytoplasm|nucleus|protein serine/threonine phosphatase complex	metal ion binding|protein serine/threonine phosphatase activity	g.chr2:27608655T>C	Y13936	CCDS1752.1	2p23.3	2012-04-17	2010-03-05		ENSG00000115241	ENSG00000115241	3.1.3.16	"Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"	9278	protein-coding gene	gene with protein product	"PP2C, gamma", "protein phosphatase 2C, gamma isoform"	605119	"protein phosphatase 1G (formerly 2C), magnesium-dependent, gamma isoform"			9276438	Standard	NM_177983		Approved	PP2CG, PP2Cgamma	uc002rkl.4	O15355	OTTHUMG00000097788	ENST00000344034.4:c.368A>G	2.37:g.27608655T>C	ENSP00000342778:p.Glu123Gly					PPM1G_ENST00000350803.4_Missense_Mutation_p.E123G	p.E123G	NM_177983.2	NP_817092.1	O15355	PPM1G_HUMAN			4	632	-	Acute lymphoblastic leukemia(172;0.155)		123						Missense_Mutation	SNP	ENST00000344034.4	37	c.368A>G	CCDS1752.1	.	.	.	.	.	.	.	.	.	.	T	18.17	3.564430	0.65651	.	.	ENSG00000115241	ENST00000344034;ENST00000350803;ENST00000544412	T;T	0.49139	0.79;0.79	5.75	5.75	0.90469	Protein phosphatase 2C-like (4);	0.416351	0.26414	N	0.024505	T	0.40979	0.1139	L	0.36672	1.1	0.58432	D	0.999997	P	0.40970	0.734	B	0.40329	0.326	T	0.19418	-1.0306	10	0.26408	T	0.33	-15.4747	14.8904	0.70604	0.0:0.0:0.0:1.0	.	123	O15355	PPM1G_HUMAN	G	123;123;106	ENSP00000342778:E123G;ENSP00000264714:E123G	ENSP00000342778:E123G	E	-	2	0	PPM1G	27462159	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.698000	0.84413	2.201000	0.70794	0.533000	0.62120	GAG		0.403	PPM1G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215032.1	NM_002707		3	48	0	0	0	1	0	3	48					C	27608655	T	C	27608655	3	2	363	1	0	0	0	0	1	0	0	0	12340	1551	54	4	1300	4	PPM1G	2	27608655	Missense_Mutation	SNP	T	TCGA-QU-A6IP-01A-11D-A31L-08		27608655	215590718	4	18135											
TTC21A	199223	broad.mit.edu	37	chr3	39180260	39180260	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggaaattttggaaaaggcccGaaggtccctgaggccctagc	11	7	13	10	1	0	1	0	1	0	0	1	4	1	3	3	5	1	0	3	5	5	3			TCGA-QU-A6IP-01A-11D-A31L-08	TCGA-QU-A6IP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8522e5d6-2758-432a-a023-6e6dc07e9893	148f3b38-a40b-4815-a3b4-d00c41470ae4	g.chr3:39180260G>A	ENST00000431162.2	+	29	4078	c.3944G>A	c.(3943-3945)cGa>cAa	p.R1315Q	TTC21A_ENST00000301819.6_Missense_Mutation_p.R1316Q|TTC21A_ENST00000440121.1_Missense_Mutation_p.R1267Q|TTC21A_ENST00000493856.1_3'UTR			Q8NDW8	TT21A_HUMAN	tetratricopeptide repeat domain 21A	1315										NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(23)|ovary(1)|prostate(1)|skin(3)	50				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)		GAAAAGGCCCGAAGGTCCCTG	0.552																																						ENST00000301819.6																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(23)|ovary(1)|prostate(1)|skin(3)	50						c.(3946-3948)cGa>cAa		tetratricopeptide repeat domain 21A							55	53	54					3																	39180260		1865	4096	5961	SO:0001583	missense	199223						binding	g.chr3:39180260G>A	AJ487015	CCDS43068.1, CCDS46800.1, CCDS43068.2	3p22.2	2014-09-04			ENSG00000168026	ENSG00000168026		"Tetratricopeptide (TTC) repeat domain containing"	30761	protein-coding gene	gene with protein product		611430					Standard	NM_145755		Approved	STI2	uc003cjc.2	Q8NDW8	OTTHUMG00000155973	ENST00000431162.2:c.3944G>A	3.37:g.39180260G>A	ENSP00000398211:p.Arg1315Gln					TTC21A_ENST00000431162.2_Missense_Mutation_p.R1315Q|TTC21A_ENST00000493856.1_3'UTR|TTC21A_ENST00000440121.1_Missense_Mutation_p.R1267Q	p.R1316Q	NM_145755.2	NP_665698.2	Q8NDW8	TT21A_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)	29	4124	+			1315		R -> K (in dbSNP:rs704959).			A1L388|B4DYF6|B4DYJ3|D3YTE7|D4PHA5|Q6P5W8|Q8N7G5|Q8NA02	Missense_Mutation	SNP	ENST00000431162.2	37	c.3947G>A	CCDS46800.1	.	.	.	.	.	.	.	.	.	.	G	13.73	2.324450	0.41197	.	.	ENSG00000168026	ENST00000301819;ENST00000424305;ENST00000431162;ENST00000440121	T;T;T	0.63255	-0.03;-0.03;0.08	5.28	1.58	0.23477	.	0.263064	0.31772	N	0.007086	T	0.35740	0.0942	N	0.11284	0.12	0.25370	N	0.988709	B;B;B	0.29936	0.262;0.01;0.006	B;B;B	0.22753	0.041;0.005;0.002	T	0.15292	-1.0442	10	0.33940	T	0.23	1.0E-4	8.3499	0.32297	0.7556:0.0:0.2444:0.0	.	1267;1316;1315	Q8NDW8-6;Q8NDW8-7;Q8NDW8	.;.;TT21A_HUMAN	Q	1316;1298;1315;1267	ENSP00000301819:R1316Q;ENSP00000398211:R1315Q;ENSP00000410882:R1267Q	ENSP00000301819:R1316Q	R	+	2	0	TTC21A	39155264	0.986000	0.35501	0.990000	0.47175	0.919000	0.55068	1.565000	0.36386	0.031000	0.15407	-0.367000	0.07326	CGA		0.552	TTC21A-021	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000377829.1	NM_145755		9	44	0	0	0	1	0	9	44					A	39180260	G	A	39180260	3	1	363	1	0	0	0	0	1	0	0	0	16684	1058	37	2	4061	2	TTC21A	3	39180260	Missense_Mutation	SNP	G	TCGA-QU-A6IP-01A-11D-A31L-08		39180260	158842170	5	18136											
GUF1	60558	broad.mit.edu	37	chr4	44682800	44682800	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcactgttaaagcacagacaGcatctctcttttacaattgt	12	14	5	10	0	3	1	1	0	2	1	4	1	3	1	0	0	3	3	0	0	4	4			TCGA-QU-A6IP-01A-11D-A31L-08	TCGA-QU-A6IP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8522e5d6-2758-432a-a023-6e6dc07e9893	148f3b38-a40b-4815-a3b4-d00c41470ae4	g.chr4:44682800G>A	ENST00000281543.5	+	3	561	c.367G>A	c.(367-369)Gca>Aca	p.A123T	GUF1_ENST00000506793.1_3'UTR	NM_021927.2	NP_068746.2			GUF1 GTPase homolog (S. cerevisiae)											breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	19						AGCACAGACAGCATCTCTCTT	0.323																																						ENST00000281543.5																			0				breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	19						c.(367-369)Gca>Aca		GUF1 GTPase homolog (S. cerevisiae)							84	84	84					4																	44682800		2195	4287	6482	SO:0001583	missense	60558				translation	mitochondrial inner membrane	GTP binding|GTPase activity	g.chr4:44682800G>A		CCDS3468.1	4p13	2006-02-16			ENSG00000151806	ENSG00000151806			25799	protein-coding gene	gene with protein product						8553703	Standard	NM_021927		Approved	FLJ13220	uc003gww.4	Q8N442	OTTHUMG00000128608	ENST00000281543.5:c.367G>A	4.37:g.44682800G>A	ENSP00000281543:p.Ala123Thr					GUF1_ENST00000506793.1_3'UTR	p.A123T	NM_021927.2	NP_068746.2	Q8N442	GUF1_HUMAN			3	561	+			123						Missense_Mutation	SNP	ENST00000281543.5	37	c.367G>A	CCDS3468.1	.	.	.	.	.	.	.	.	.	.	G	30	5.054975	0.93793	.	.	ENSG00000151806	ENST00000281543	T	0.70631	-0.5	4.99	4.99	0.66335	Small GTP-binding protein domain (1);Protein synthesis factor, GTP-binding (1);	0.000000	0.85682	D	0.000000	T	0.80121	0.4565	L	0.47716	1.5	0.80722	D	1	D	0.76494	0.999	D	0.70935	0.971	T	0.82202	-0.0574	10	0.87932	D	0	-15.0547	17.6231	0.88087	0.0:0.0:1.0:0.0	.	123	Q8N442	GUF1_HUMAN	T	123	ENSP00000281543:A123T	ENSP00000281543:A123T	A	+	1	0	GUF1	44377557	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.420000	0.97426	2.455000	0.83008	0.557000	0.71058	GCA		0.323	GUF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250469.3	NM_021927		7	22	0	0	0	1	0	7	22					A	44682800	G	A	44682800	3	1	363	1	0	0	0	0	1	0	0	0	6899	971	34	3	377	3	GUF1	4	44682800	Missense_Mutation	SNP	G	TCGA-QU-A6IP-01A-11D-A31L-08		44682800	146471476	6	18137											
CARD6	84674	broad.mit.edu	37	chr5	40854090	40854090	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgaagcaactggaaaactgAtaagaacatcccatattgga	17	8	8	8	0	0	3	0	2	0	1	1	5	1	5	1	2	4	1	1	2	7	3			TCGA-QU-A6IP-01A-11D-A31L-08	TCGA-QU-A6IP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8522e5d6-2758-432a-a023-6e6dc07e9893	148f3b38-a40b-4815-a3b4-d00c41470ae4	g.chr5:40854090A>G	ENST00000254691.5	+	3	2855	c.2656A>G	c.(2656-2658)Ata>Gta	p.I886V	CARD6_ENST00000381677.3_Intron	NM_032587.3	NP_115976.2	Q9BX69	CARD6_HUMAN	caspase recruitment domain family, member 6	886					apoptotic process (GO:0006915)|regulation of apoptotic process (GO:0042981)					NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(2)|lung(29)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	62						TGGAAAACTGATAAGAACATC	0.488																																						ENST00000254691.5																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(2)|lung(29)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	62						c.(2656-2658)Ata>Gta		caspase recruitment domain family, member 6							102	102	102					5																	40854090		2203	4300	6503	SO:0001583	missense	84674				apoptosis|regulation of apoptosis	intracellular		g.chr5:40854090A>G	AF356193	CCDS3935.1	5p13.1	2008-05-23			ENSG00000132357	ENSG00000132357			16394	protein-coding gene	gene with protein product		609986				12775719	Standard	NM_032587		Approved	CINCIN1	uc003jmg.3	Q9BX69	OTTHUMG00000094775	ENST00000254691.5:c.2656A>G	5.37:g.40854090A>G	ENSP00000254691:p.Ile886Val					CARD6_ENST00000381677.3_Intron	p.I886V	NM_032587.3	NP_115976.2	Q9BX69	CARD6_HUMAN			3	2855	+			886					Q52LR2	Missense_Mutation	SNP	ENST00000254691.5	37	c.2656A>G	CCDS3935.1	.	.	.	.	.	.	.	.	.	.	A	8.854	0.945191	0.18356	.	.	ENSG00000132357	ENST00000254691	T	0.13538	2.58	4.6	-0.8	0.10897	.	1.316840	0.04909	N	0.452742	T	0.07458	0.0188	N	0.24115	0.695	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.35895	-0.9770	10	0.16420	T	0.52	1.4981	0.7219	0.00942	0.4777:0.1683:0.1914:0.1626	.	886	Q9BX69	CARD6_HUMAN	V	886	ENSP00000254691:I886V	ENSP00000254691:I886V	I	+	1	0	CARD6	40889847	0.000000	0.05858	0.000000	0.03702	0.202000	0.24057	-0.201000	0.09464	-0.198000	0.10333	0.260000	0.18958	ATA		0.488	CARD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211584.3			32	85	0	0	0	1	0	32	85					G	40854090	A	G	40854090	3	3	363	1	0	0	0	0	1	0	0	0	2650	333	12	4	2666	4	CARD6	5	40854090	Missense_Mutation	SNP	A	TCGA-QU-A6IP-01A-11D-A31L-08		40854090	140061170	7	18138											
TNXB	7148	broad.mit.edu	37	chr6	32036898	32036898	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gggccgtggtctcagtttccGtttcttccctgccggctggt	1	14	13	13	3	2	0	1	0	2	0	5	0	4	0	4	4	1	3	4	4	0	3			TCGA-QU-A6IP-01A-11D-A31L-08	TCGA-QU-A6IP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8522e5d6-2758-432a-a023-6e6dc07e9893	148f3b38-a40b-4815-a3b4-d00c41470ae4	g.chr6:32036898G>A	ENST00000375244.3	-	16	5804	c.5603C>T	c.(5602-5604)aCg>aTg	p.T1868M	TNXB_ENST00000375247.2_Missense_Mutation_p.T1868M			P22105	TENX_HUMAN	tenascin XB	1950	Fibronectin type-III 11. {ECO:0000255|PROSITE-ProRule:PRU00316}.				actin cytoskeleton organization (GO:0030036)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|collagen fibril organization (GO:0030199)|collagen metabolic process (GO:0032963)|elastic fiber assembly (GO:0048251)|extracellular fibril organization (GO:0043206)|fatty acid metabolic process (GO:0006631)|regulation of JUN kinase activity (GO:0043506)|single organismal cell-cell adhesion (GO:0016337)|triglyceride metabolic process (GO:0006641)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						CTCAGTTTCCGTTTCTTCCCT	0.632																																						ENST00000375244.3																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						c.(5602-5604)aCg>aTg		tenascin XB							23	26	25					6																	32036898		1336	2574	3910	SO:0001583	missense	7148				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding	g.chr6:32036898G>A	X71923	CCDS4736.1	6p21.3	2013-02-11			ENSG00000168477	ENSG00000168477		"Fibrinogen C domain containing", "Fibronectin type III domain containing"	11976	protein-coding gene	gene with protein product		600985		TNXB1, TNXB2		8530023	Standard	NM_019105		Approved	TNXBS, XBS, XB	uc021yvf.2	P22105	OTTHUMG00000031088	ENST00000375244.3:c.5603C>T	6.37:g.32036898G>A	ENSP00000364393:p.Thr1868Met					TNXB_ENST00000375247.2_Missense_Mutation_p.T1868M	p.T1868M			P22105	TENX_HUMAN			16	5804	-			1950			Fibronectin type-III 11.		P78530|P78531|Q08424|Q08AM0|Q08AM1|Q59GU7|Q5SQD3|Q5ST74|Q7L8Q4|Q8N4R1|Q9NPK9|Q9UC10|Q9UC11|Q9UC12|Q9UC13|Q9UMG7	Missense_Mutation	SNP	ENST00000375244.3	37	c.5603C>T		.	.	.	.	.	.	.	.	.	.	G	4.880	0.163611	0.09287	.	.	ENSG00000168477	ENST00000375244;ENST00000375247	T;T	0.58210	0.52;0.35	4.41	-8.82	0.00810	.	2.614030	0.01742	N	0.029470	T	0.11750	0.0286	N	0.16266	0.395	0.09310	N	1	B	0.15141	0.012	B	0.08055	0.003	T	0.05084	-1.0907	10	0.38643	T	0.18	.	6.1199	0.20148	0.266:0.0:0.4147:0.3193	.	1868	P22105-3	.	M	1868	ENSP00000364393:T1868M;ENSP00000364396:T1868M	ENSP00000364393:T1868M	T	-	2	0	TNXB	32144876	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.312000	0.02720	-2.073000	0.00878	-1.405000	0.01134	ACG		0.632	TNXB-001	PUTATIVE	not_organism_supported|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000268927.2	NM_019105		7	23	0	0	0	1	0	7	23					A	32036898	G	A	32036898	3	1	363	1	0	0	0	0	1	0	0	0	16343	1145	40	1	9226	1	TNXB	6	32036898	Missense_Mutation	SNP	G	TCGA-QU-A6IP-01A-11D-A31L-08		32036898	139078169	8	18139											
COL11A2	1302	broad.mit.edu	37	chr6	33143390	33143390	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gggggcccagggtctccagtCggtccagtgcgtccctttgg	3	9	16	13	2	1	0	0	0	1	0	5	0	3	0	4	5	1	0	4	5	0	1	rs375026901		TCGA-QU-A6IP-01A-11D-A31L-08	TCGA-QU-A6IP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8522e5d6-2758-432a-a023-6e6dc07e9893	148f3b38-a40b-4815-a3b4-d00c41470ae4	g.chr6:33143390C>T	ENST00000374708.4	-	28	2337	c.2079G>A	c.(2077-2079)ccG>ccA	p.P693P	COL11A2_ENST00000374713.1_Silent_p.P732P|COL11A2_ENST00000361917.1_Silent_p.P672P|COL11A2_ENST00000374714.1_Silent_p.P753P|COL11A2_ENST00000374712.1_Silent_p.P698P|COL11A2_ENST00000357486.1_Silent_p.P758P|COL11A2_ENST00000341947.2_Silent_p.P779P|COL11A2_ENST00000477772.1_Intron|COL11A2_ENST00000395197.1_Silent_p.P719P	NM_080681.2	NP_542412.2	P13942	COBA2_HUMAN	collagen, type XI, alpha 2	779	Triple-helical region.				cartilage development (GO:0051216)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|palate development (GO:0060021)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|soft palate development (GO:0060023)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)			biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						GGTCTCCAGTCGGTCCAGTGC	0.647																																					Melanoma(1;90 116 3946 5341 17093)	ENST00000341947.2																			0				biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						c.(2335-2337)ccG>ccA		collagen, type XI, alpha 2		C	,,	0,3020		0,0,1510	107	92	97		2016,2337,2079	-1.9	1	6		97	1,5417		0,1,2708	no	coding-synonymous,coding-synonymous,coding-synonymous	COL11A2	NM_080679.2,NM_080680.2,NM_080681.2	,,	0,1,4218	TT,TC,CC		0.0185,0.0,0.0119	,,	672/1630,779/1737,693/1651	33143390	1,8437	1510	2709	4219	SO:0001819	synonymous_variant	1302				cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development	collagen type XI	extracellular matrix structural constituent conferring tensile strength|protein binding, bridging	g.chr6:33143390C>T	U32169	CCDS43452.1, CCDS54992.1	6p21.3	2013-01-16			ENSG00000204248	ENSG00000204248		"Collagens"	2187	protein-coding gene	gene with protein product		120290		DFNA13, DFNB53		7559422, 10581026	Standard	NM_080679		Approved	HKE5	uc003ocx.1	P13942	OTTHUMG00000031036	ENST00000374708.4:c.2079G>A	6.37:g.33143390C>T						COL11A2_ENST00000395197.1_Silent_p.P719P|COL11A2_ENST00000374714.1_Silent_p.P753P|COL11A2_ENST00000361917.1_Silent_p.P672P|COL11A2_ENST00000357486.1_Silent_p.P758P|COL11A2_ENST00000374713.1_Silent_p.P732P|COL11A2_ENST00000374712.1_Silent_p.P698P|COL11A2_ENST00000477772.1_Intron|COL11A2_ENST00000374708.4_Silent_p.P693P	p.P779P	NM_080680.2	NP_542411.2	P13942	COBA2_HUMAN			30	2564	-			779			Triple-helical region.		A6NLX2|E7ER90|Q07751|Q13271|Q13272|Q13273|Q5JP94|Q5SUI8|Q7Z6C3|Q99866|Q9UIP9	Silent	SNP	ENST00000374708.4	37	c.2337G>A	CCDS43452.1																																																																																				0.647	COL11A2-001	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000076032.2			4	84	0	0	0	1	0	4	84					T	33143390	C	T	33143390	2	4	363	1	0	0	0	0	0	0	0	1	3668	871	31	2		2	COL11A2	6	33143390	Silent	SNP	C	TCGA-QU-A6IP-01A-11D-A31L-08	1106492	33143390	137971677	9	18140											
LGSN	51557	broad.mit.edu	37	chr6	63990360	63990360	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtccttggaataacgctttcGgcagctaacagaaggcgcca	11	8	11	11	3	0	1	0	0	0	1	2	2	1	2	2	3	3	3	2	3	4	4			TCGA-QU-A6IP-01A-11D-A31L-08	TCGA-QU-A6IP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8522e5d6-2758-432a-a023-6e6dc07e9893	148f3b38-a40b-4815-a3b4-d00c41470ae4	g.chr6:63990360G>A	ENST00000370657.4	-	4	1129	c.1096C>T	c.(1096-1098)Cga>Tga	p.R366*	LGSN_ENST00000370658.5_3'UTR			Q5TDP6	LGSN_HUMAN	lengsin, lens protein with glutamine synthetase domain	366					glutamine biosynthetic process (GO:0006542)	plasma membrane (GO:0005886)	glutamate-ammonia ligase activity (GO:0004356)			NS(1)|endometrium(2)|large_intestine(5)|lung(16)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						TAACGCTTTCGGCAGCTAACA	0.478																																						ENST00000370657.4																			0				NS(1)|endometrium(2)|large_intestine(5)|lung(16)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						c.(1096-1098)Cga>Tga		lengsin, lens protein with glutamine synthetase domain	L-Glutamic Acid(DB00142)						134	134	134					6																	63990360		2203	4300	6503	SO:0001587	stop_gained	51557				glutamine biosynthetic process		glutamate-ammonia ligase activity	g.chr6:63990360G>A	AF242388	CCDS4964.1, CCDS55027.1	6q12	2013-09-19	2008-09-19	2008-09-19	ENSG00000146166	ENSG00000146166			21016	protein-coding gene	gene with protein product		611470	"glutamate-ammonia ligase (glutamine synthetase) domain containing 1"	GLULD1		12107412	Standard	NM_016571		Approved	LGS	uc003peh.3	Q5TDP6	OTTHUMG00000014946	ENST00000370657.4:c.1096C>T	6.37:g.63990360G>A	ENSP00000359691:p.Arg366*					LGSN_ENST00000370658.5_3'UTR	p.R366*			Q5TDP6	LGSN_HUMAN			4	1129	-			366					A1L421|Q0PVN9|Q0PVP0|Q9NYJ0	Nonsense_Mutation	SNP	ENST00000370657.4	37	c.1096C>T	CCDS4964.1	.	.	.	.	.	.	.	.	.	.	G	12.75	2.031718	0.35797	.	.	ENSG00000146166	ENST00000370657	.	.	.	5.77	2.65	0.31530	.	0.103374	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.26408	T	0.33	-5.031	15.5526	0.76164	0.0:0.0:0.6316:0.3684	.	.	.	.	X	366	.	ENSP00000359691:R366X	R	-	1	2	LGSN	64048319	1.000000	0.71417	0.886000	0.34754	0.032000	0.12392	2.232000	0.43018	0.763000	0.33175	-0.181000	0.13052	CGA		0.478	LGSN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041076.2	NM_016571		4	131	0	0	0	1	0	4	131					A	63990360	G	A	63990360	4	1	363	1	0	0	0	0	0	1	0	0	8759	1124	39	2	437	2	LGSN	6	63990360	Nonsense_Mutation	SNP	G	TCGA-QU-A6IP-01A-11D-A31L-08	30846970	63990360	107124707	10	18141											
CUX1	1523	broad.mit.edu	37	chr7	101916637	101916637	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	atgtcttcctttggccacagGacgctgtgcagagctgcaag	8	10	12	11	1	1	1	0	0	1	1	2	2	2	2	2	2	3	4	2	2	1	2			TCGA-QU-A6IP-01A-11D-A31L-08	TCGA-QU-A6IP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8522e5d6-2758-432a-a023-6e6dc07e9893	148f3b38-a40b-4815-a3b4-d00c41470ae4	g.chr7:101916637G>T	ENST00000437600.4	+	15	1602	c.1250G>T	c.(1249-1251)gGa>gTa	p.G417V	CUX1_ENST00000393824.3_Splice_Site_p.G380V|CUX1_ENST00000560541.1_3'UTR|CUX1_ENST00000547394.2_Splice_Site_p.G403V|CUX1_ENST00000425244.2_Splice_Site_p.G373V|CUX1_ENST00000292538.4_Splice_Site_p.G419V	NM_181500.2	NP_852477.1	P39880	CUX1_HUMAN	cut-like homeobox 1	408					auditory receptor cell differentiation (GO:0042491)|kidney development (GO:0001822)|lung development (GO:0030324)|multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of dendrite morphogenesis (GO:0050775)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|retrograde transport, vesicle recycling within Golgi (GO:0000301)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi membrane (GO:0000139)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding (GO:0043565)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						TTGGCCACAGGACGCTGTGCA	0.627																																						ENST00000437600.4																			0				breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						c.e15-1		cut-like homeobox 1							40	35	37					7																	101916637		2203	4300	6503	SO:0001630	splice_region_variant	1523				negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:101916637G>T	M74099	CCDS5720.1, CCDS5721.1, CCDS47672.1, CCDS56498.1, CCDS56499.1, CCDS56500.1, CCDS59071.1	7q22.1	2012-10-03	2007-11-07	2007-11-07	ENSG00000257923	ENSG00000257923		"Homeoboxes / CUT class"	2557	protein-coding gene	gene with protein product	"golgi integral membrane protein 6"	116896	"cut (Drosophila)-like 1 (CCAAT displacement protein)", "cut-like 1, CCAAT displacement protein (Drosophila)"	CUTL1		8468066, 9799793, 15004235	Standard	NM_001202543		Approved	CDP, CDP1, CUX, CUT, Clox, CDP/Cut, CDP/Cux, Cux/CDP, CASP, GOLIM6	uc003uyx.4	P39880	OTTHUMG00000157129	ENST00000437600.4:c.1250-1G>T	7.37:g.101916637G>T						CUX1_ENST00000292538.4_Splice_Site_p.G419_splice|CUX1_ENST00000425244.2_Splice_Site_p.G373_splice|CUX1_ENST00000393824.3_Splice_Site_p.G380_splice|CUX1_ENST00000547394.2_Splice_Site_p.G403_splice|CUX1_ENST00000560541.1_3'UTR	p.G417_splice	NM_181500.2	NP_852477.1	P39880	CUX1_HUMAN			15	1602	+			408					B3KV79|J3KQV9|Q6NYH4|Q75LE5|Q75MT2|Q75MT3|Q86UJ7|Q9UEV5	Splice_Site	SNP	ENST00000437600.4	37	c.1249_splice	CCDS47672.1	.	.	.	.	.	.	.	.	.	.	G	13.79	2.340873	0.41498	.	.	ENSG00000257923	ENST00000292538;ENST00000547394;ENST00000425244;ENST00000437600	T;T;T;T	0.32023	1.49;1.48;1.47;1.49	4.58	4.58	0.56647	.	.	.	.	.	T	0.25975	0.0633	L	0.43152	1.355	0.80722	D	1	B;B;B;B;B	0.20671	0.047;0.041;0.002;0.003;0.01	B;B;B;B;B	0.22880	0.042;0.024;0.009;0.009;0.009	T	0.04737	-1.0930	8	.	.	.	.	11.7772	0.51993	0.0:0.0:0.812:0.188	.	380;373;403;417;419	B4DZZ2;B3KV79;G3V1Z6;Q13948-2;Q13948	.;.;.;.;CASP_HUMAN	V	419;403;373;417	ENSP00000292538:G419V;ENSP00000449371:G403V;ENSP00000409745:G373V;ENSP00000414091:G417V	.	G	+	2	0	CUX1	101703357	1.000000	0.71417	1.000000	0.80357	0.930000	0.56654	4.993000	0.63895	2.106000	0.64143	0.561000	0.74099	GGA		0.627	CUX1-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000347534.3	NM_001913	Missense_Mutation	3	12	1	0	0.004672	1	0.00495515	3	12					T	101916637	G	T	101916637	5	4	363	1	0	0	0	0	0	0	1	0	4064	1188	41	5	4684	5	CUX1	7	101916637	Splice_Site	SNP	G	TCGA-QU-A6IP-01A-11D-A31L-08		101916637	57222026	11	18142											
MTUS1	57509	broad.mit.edu	37	chr8	17612416	17612416	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taatgcagaatcattggggaCttccatgccatcagaaactg	13	10	9	9	0	2	2	2	0	0	2	3	3	3	3	2	2	3	1	2	2	3	3	rs578011378		TCGA-QU-A6IP-01A-11D-A31L-08	TCGA-QU-A6IP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8522e5d6-2758-432a-a023-6e6dc07e9893	148f3b38-a40b-4815-a3b4-d00c41470ae4	g.chr8:17612416C>G	ENST00000262102.6	-	2	1125	c.901G>C	c.(901-903)Gtc>Ctc	p.V301L	MTUS1_ENST00000381862.3_Missense_Mutation_p.V301L|MTUS1_ENST00000519263.1_Missense_Mutation_p.V301L|MTUS1_ENST00000381869.3_Missense_Mutation_p.V301L	NM_001001924.2	NP_001001924.1	Q9ULD2	MTUS1_HUMAN	microtubule associated tumor suppressor 1	301					cellular response to peptide hormone stimulus (GO:0071375)|regulation of macrophage chemotaxis (GO:0010758)	extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(14)|lung(8)|ovary(1)|skin(2)|urinary_tract(1)	36				Colorectal(111;0.0778)		TCATTGGGGACTTCCATGCCA	0.433																																						ENST00000381869.3																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(14)|lung(8)|ovary(1)|skin(2)|urinary_tract(1)	36						c.(901-903)Gtc>Ctc		microtubule associated tumor suppressor 1							233	225	227					8																	17612416		1953	4141	6094	SO:0001583	missense	57509					Golgi apparatus|microtubule|microtubule organizing center|mitochondrion|nucleus|plasma membrane|spindle		g.chr8:17612416C>G	AL096842	CCDS43716.1, CCDS43717.1, CCDS43718.1, CCDS43719.1, CCDS55204.1	8p22	2013-01-17	2009-10-20		ENSG00000129422	ENSG00000129422			29789	protein-coding gene	gene with protein product	"AT2 receptor-interacting protein", "AT2R binding protein", "mitochondrial tumor suppressor gene 1"	609589	"mitochondrial tumor suppressor 1"			10574462, 12692079	Standard	NM_001001931		Approved	MTSG1, KIAA1288, DKFZp586D1519, FLJ14295, ATIP1, MP44, ATBP, ICIS	uc003wxv.3	Q9ULD2	OTTHUMG00000163756	ENST00000262102.6:c.901G>C	8.37:g.17612416C>G	ENSP00000262102:p.Val301Leu					MTUS1_ENST00000381862.3_Missense_Mutation_p.V301L|MTUS1_ENST00000262102.6_Missense_Mutation_p.V301L|MTUS1_ENST00000519263.1_Missense_Mutation_p.V301L	p.V301L	NM_001001925.2	NP_001001925.1	Q9ULD2	MTUS1_HUMAN		Colorectal(111;0.0778)	2	1374	-			301					A8K135|B2RBJ6|B3KWJ9|B4DH03|B9EGA1|D3DSP8|Q63HJ6|Q659F4|Q6PK49|Q6URW7|Q8N4M6|Q8WTT9|Q9H7T2	Missense_Mutation	SNP	ENST00000262102.6	37	c.901G>C	CCDS43717.1	.	.	.	.	.	.	.	.	.	.	C	11.59	1.684989	0.29872	.	.	ENSG00000129422	ENST00000381869;ENST00000262102;ENST00000519263;ENST00000381862	T;T;T;T	0.28069	2.54;2.59;2.54;1.63	4.52	3.65	0.41850	.	0.102038	0.40222	N	0.001146	T	0.19725	0.0474	L	0.32530	0.975	0.09310	N	1	D;P;P	0.55800	0.973;0.802;0.802	B;B;B	0.41571	0.36;0.273;0.273	T	0.21895	-1.0232	10	0.87932	D	0	-2.481	4.1304	0.10146	0.1862:0.6271:0.0:0.1867	.	301;301;301	Q9ULD2-5;Q9ULD2-2;Q9ULD2	.;.;MTUS1_HUMAN	L	301	ENSP00000371293:V301L;ENSP00000262102:V301L;ENSP00000430167:V301L;ENSP00000371286:V301L	ENSP00000262102:V301L	V	-	1	0	MTUS1	17656696	0.003000	0.15002	0.893000	0.35052	0.234000	0.25298	1.284000	0.33249	1.516000	0.48900	0.655000	0.94253	GTC		0.433	MTUS1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000375247.1	XM_372031		4	144	0	0	0	1	0	4	144					G	17612416	C	G	17612416	3	3	363	1	0	0	0	0	1	0	0	0	9965	565	20	5	3286	5	MTUS1	8	17612416	Missense_Mutation	SNP	C	TCGA-QU-A6IP-01A-11D-A31L-08		17612416	128751606	12	18143											
PLEC	5339	broad.mit.edu	37	chr8	144995923	144995923	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcggccctgcaggtagtggCgcacgtcttcccgccgtgcg	3	8	15	15	6	1	0	0	0	1	0	2	0	2	0	3	3	3	3	3	3	1	2			TCGA-QU-A6IP-01A-11D-A31L-08	TCGA-QU-A6IP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8522e5d6-2758-432a-a023-6e6dc07e9893	148f3b38-a40b-4815-a3b4-d00c41470ae4	g.chr8:144995923C>T	ENST00000322810.4	-	32	8646	c.8477G>A	c.(8476-8478)cGc>cAc	p.R2826H	PLEC_ENST00000345136.3_Missense_Mutation_p.R2689H|PLEC_ENST00000357649.2_Missense_Mutation_p.R2693H|PLEC_ENST00000354589.3_Missense_Mutation_p.R2689H|PLEC_ENST00000398774.2_Missense_Mutation_p.R2657H|PLEC_ENST00000356346.3_Missense_Mutation_p.R2675H|PLEC_ENST00000436759.2_Missense_Mutation_p.R2716H|PLEC_ENST00000527096.1_Missense_Mutation_p.R2712H|PLEC_ENST00000354958.2_Missense_Mutation_p.R2667H	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	2826	Globular 2.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						CAGGTAGTGGCGCACGTCTTC	0.662																																						ENST00000322810.4																			0				NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						c.(8476-8478)cGc>cAc		plectin							35	39	38					8																	144995923		2172	4264	6436	SO:0001583	missense	5339				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle	g.chr8:144995923C>T	U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"plectin 1, intermediate filament binding protein, 500kD", "epidermolysis bullosa simplex 1 (Ogna)", "plectin 1, intermediate filament binding protein 500kDa"	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.8477G>A	8.37:g.144995923C>T	ENSP00000323856:p.Arg2826His					PLEC_ENST00000356346.3_Missense_Mutation_p.R2675H|PLEC_ENST00000354589.3_Missense_Mutation_p.R2689H|PLEC_ENST00000527096.1_Missense_Mutation_p.R2712H|PLEC_ENST00000357649.2_Missense_Mutation_p.R2693H|PLEC_ENST00000398774.2_Missense_Mutation_p.R2657H|PLEC_ENST00000436759.2_Missense_Mutation_p.R2716H|PLEC_ENST00000354958.2_Missense_Mutation_p.R2667H|PLEC_ENST00000345136.3_Missense_Mutation_p.R2689H	p.R2826H	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN			32	8646	-			2826			Globular 2.		Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Missense_Mutation	SNP	ENST00000322810.4	37	c.8477G>A	CCDS43772.1	.	.	.	.	.	.	.	.	.	.	C	1.129	-0.652984	0.03480	.	.	ENSG00000178209	ENST00000345136;ENST00000357649;ENST00000354589;ENST00000398774;ENST00000322810;ENST00000354958;ENST00000356346;ENST00000436759;ENST00000527096	T;T;T;T;T;T;T;T;T	0.69175	-0.38;-0.38;-0.38;-0.38;-0.38;-0.38;-0.38;-0.38;-0.38	4.3	-1.94	0.07571	.	0.927560	0.08931	N	0.873010	T	0.47414	0.1444	L	0.27053	0.805	0.09310	N	1	B;B;B;B;B;B;B;B	0.06786	0.001;0.001;0.001;0.001;0.001;0.001;0.001;0.001	B;B;B;B;B;B;B;B	0.06405	0.001;0.001;0.001;0.002;0.001;0.001;0.001;0.001	T	0.32402	-0.9908	10	0.08837	T	0.75	.	10.6962	0.45901	0.0:0.4712:0.0:0.5288	.	2716;2675;2667;2826;2657;2689;2693;2689	Q15149-2;Q15149-9;Q15149-8;Q15149;Q15149-7;Q15149-5;Q15149-6;Q15149-4	.;.;.;PLEC_HUMAN;.;.;.;.	H	2689;2693;2689;2657;2826;2667;2675;2716;2712	ENSP00000344848:R2689H;ENSP00000350277:R2693H;ENSP00000346602:R2689H;ENSP00000381756:R2657H;ENSP00000323856:R2826H;ENSP00000347044:R2667H;ENSP00000348702:R2675H;ENSP00000388180:R2716H;ENSP00000434583:R2712H	ENSP00000323856:R2826H	R	-	2	0	PLEC	145067911	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.641000	0.05434	-0.554000	0.06150	-0.404000	0.06349	CGC		0.662	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	NM_000445		12	65	0	0	0	1	0	12	65					T	144995923	C	T	144995923	3	4	363	1	0	0	0	0	1	0	0	0	12052	768	27	1	5581	1	PLEC	8	144995923	Missense_Mutation	SNP	C	TCGA-QU-A6IP-01A-11D-A31L-08	127383507	144995923	1368099	13	18144											
GOLGA2	2801	broad.mit.edu	37	chr9	131019398	131019398	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgtcagcccggtaaaaaaaaGgaatgcaggggttgctgccc	12	6	13	10	2	1	0	1	0	0	0	1	1	1	1	2	4	4	4	2	4	5	2			TCGA-QU-A6IP-01A-11D-A31L-08	TCGA-QU-A6IP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8522e5d6-2758-432a-a023-6e6dc07e9893	148f3b38-a40b-4815-a3b4-d00c41470ae4	g.chr9:131019398G>A	ENST00000421699.2	-	26	2969	c.2957C>T	c.(2956-2958)cCt>cTt	p.P986L	AL590708.1_ENST00000408370.1_RNA|GOLGA2_ENST00000609374.1_Missense_Mutation_p.P974L	NM_004486.4	NP_004477.3	Q08379	GOGA2_HUMAN	golgin A2	986					mitotic cell cycle (GO:0000278)	cis-Golgi network (GO:0005801)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	34						GTAAAAAAAAGGAATGCAGGG	0.557																																						ENST00000421699.2																			0				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	34						c.(2956-2958)cCt>cTt		golgin A2							90	100	96					9																	131019398		2203	4300	6503	SO:0001583	missense	2801					Golgi cisterna membrane	protein binding	g.chr9:131019398G>A	L06147	CCDS6896.2	9q34.13	2010-06-28	2010-02-12		ENSG00000167110	ENSG00000167110			4425	protein-coding gene	gene with protein product	"Golgi matrix protein GM130", "SY11 protein"	602580	"golgi autoantigen, golgin subfamily a, 2"			8315394	Standard	NM_004486		Approved	GM130, golgin-95	uc011maw.2	Q08379	OTTHUMG00000020732	ENST00000421699.2:c.2957C>T	9.37:g.131019398G>A	ENSP00000416097:p.Pro986Leu						p.P986L	NM_004486.4	NP_004477.3	Q08379	GOGA2_HUMAN			26	2969	-			986					Q6GRM9|Q9BRB0|Q9NYF9	Missense_Mutation	SNP	ENST00000421699.2	37	c.2957C>T	CCDS6896.2	.	.	.	.	.	.	.	.	.	.	g	17.69	3.451446	0.63290	.	.	ENSG00000167110	ENST00000421699;ENST00000342583	T	0.46063	0.88	5.08	5.08	0.68730	.	0.000000	0.85682	D	0.000000	T	0.67720	0.2923	M	0.80028	2.48	0.80722	D	1	D;D	0.76494	0.999;0.972	D;P	0.77557	0.99;0.881	T	0.71862	-0.4464	10	0.56958	D	0.05	.	18.4669	0.90758	0.0:0.0:1.0:0.0	.	986;604	Q08379;Q08379-2	GOGA2_HUMAN;.	L	986;270	ENSP00000416097:P986L	ENSP00000342692:P270L	P	-	2	0	GOLGA2	130059219	1.000000	0.71417	0.622000	0.29159	0.002000	0.02628	9.476000	0.97823	2.340000	0.79590	0.557000	0.71058	CCT		0.557	GOLGA2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054358.2	NM_004486		4	170	0	0	0	1	0	4	170					A	131019398	G	A	131019398	3	1	363	1	0	0	0	0	1	0	0	0	6552	1000	35	3	55	3	GOLGA2	9	131019398	Missense_Mutation	SNP	G	TCGA-QU-A6IP-01A-11D-A31L-08		131019398	10194033	14	18145											
AGAP11	119385	broad.mit.edu	37	chr10	88769150	88769150	+	RNA	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcacccgcctttcccgtgtgCgatctctggagctggatgac	5	10	12	14	3	1	1	0	1	1	0	3	4	2	3	3	2	2	2	3	2	0	1	rs201722704		TCGA-QU-A6IP-01A-11D-A31L-08	TCGA-QU-A6IP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8522e5d6-2758-432a-a023-6e6dc07e9893	148f3b38-a40b-4815-a3b4-d00c41470ae4	g.chr10:88769150C>T	ENST00000444431.1	+	0	3750				RP11-96C23.5_ENST00000433214.2_RNA|RP11-96C23.14_ENST00000444180.3_RNA|RP11-96C23.10_ENST00000451760.1_RNA			Q8TF27	AGA11_HUMAN	ankyrin repeat and GTPase domain Arf GTPase activating protein 11						regulation of ARF GTPase activity (GO:0032312)		ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)										TTCCCGTGTGCGATCTCTGGA	0.537																																						ENST00000444431.1																			0													ankyrin repeat and GTPase domain Arf GTPase activating protein 11							142	161	155					10																	88769150		2203	4298	6501			119385				regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding	g.chr10:88769150C>T			10q23.2	2013-01-11			ENSG00000151303	ENSG00000151303		"ADP-ribosylation factor GTPase activating proteins", "Ankyrin repeat domain containing"	29421	protein-coding gene	gene with protein product						11853319	Standard	NM_133447		Approved	KIAA1975	uc001kee.2	Q8TF27	OTTHUMG00000018667		10.37:g.88769150C>T						RP11-96C23.5_ENST00000433214.2_RNA|RP11-96C23.14_ENST00000444180.3_RNA				Q8TF27	AGA11_HUMAN			0	3750	+								B9EIP7|D3DWE4	RNA	SNP	ENST00000444431.1	37																																																																																						0.537	AGAP11-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000049193.1	NM_133447		4	251	0	0	0	1	0	4	251					T	88769150	C	T	88769150	1	4	363	0	1	0	0	0	0	0	0	0	367	760	27	1		1	AGAP11	10	88769150	RNA	SNP	C	TCGA-QU-A6IP-01A-11D-A31L-08		88769150	46765597	15	18146											
TCF7L2	6934	broad.mit.edu	37	chr10	114925492	114925492	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgtcgctgtccctgaagcccGaccccctggcccacctgtcc	4	8	9	20	2	0	1	0	1	0	0	3	2	2	1	7	1	1	1	7	1	1	0	rs534110993		TCGA-QU-A6IP-01A-11D-A31L-08	TCGA-QU-A6IP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8522e5d6-2758-432a-a023-6e6dc07e9893	148f3b38-a40b-4815-a3b4-d00c41470ae4	g.chr10:114925492G>A	ENST00000355995.4	+	15	2128	c.1621G>A	c.(1621-1623)Gac>Aac	p.D541N	TCF7L2_ENST00000543371.1_Missense_Mutation_p.D524N|TCF7L2_ENST00000466338.1_3'UTR|TCF7L2_ENST00000369397.4_Missense_Mutation_p.D518N|TCF7L2_ENST00000542695.1_Missense_Mutation_p.D257N|TCF7L2_ENST00000545257.1_Missense_Mutation_p.D541N|TCF7L2_ENST00000369386.1_3'UTR|TCF7L2_ENST00000355717.4_3'UTR|TCF7L2_ENST00000536810.1_Missense_Mutation_p.D524N|TCF7L2_ENST00000538897.1_3'UTR			Q9NQB0	TF7L2_HUMAN	transcription factor 7-like 2 (T-cell specific, HMG-box)	541					blood vessel development (GO:0001568)|bone mineralization (GO:0030282)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in positive regulation of epithelial to mesenchymal transition (GO:0044334)|catenin import into nucleus (GO:0035411)|cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|cellular response to starvation (GO:0009267)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic genitalia morphogenesis (GO:0030538)|embryonic hindgut morphogenesis (GO:0048619)|face morphogenesis (GO:0060325)|fat cell differentiation (GO:0045444)|generation of neurons (GO:0048699)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glycogen metabolic process (GO:0005977)|insulin metabolic process (GO:1901142)|maintenance of DNA repeat elements (GO:0043570)|multicellular organism growth (GO:0035264)|myoblast fate commitment (GO:0048625)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|negative regulation of organ growth (GO:0046621)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of type B pancreatic cell apoptotic process (GO:2000675)|neural tube development (GO:0021915)|odontogenesis of dentin-containing tooth (GO:0042475)|oligodendrocyte development (GO:0014003)|pancreas development (GO:0031016)|pituitary gland development (GO:0021983)|positive regulation of apoptotic process (GO:0043065)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of gluconeogenesis (GO:0045722)|positive regulation of heparan sulfate proteoglycan biosynthetic process (GO:0010909)|positive regulation of insulin secretion (GO:0032024)|positive regulation of protein binding (GO:0032092)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of triglyceride biosynthetic process (GO:0010867)|post-embryonic development (GO:0009791)|regulation of hormone metabolic process (GO:0032350)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|regulation of myelination (GO:0031641)|regulation of oligodendrocyte differentiation (GO:0048713)|regulation of skeletal muscle tissue development (GO:0048641)|regulation of smooth muscle cell proliferation (GO:0048660)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to glucose (GO:0009749)|secretory granule localization (GO:0032252)|skin development (GO:0043588)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	beta-catenin-TCF7L2 complex (GO:0070369)|cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein-DNA complex (GO:0032993)|transcription factor complex (GO:0005667)	armadillo repeat domain binding (GO:0070016)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|gamma-catenin binding (GO:0045295)|nuclear hormone receptor binding (GO:0035257)|protein kinase binding (GO:0019901)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II repressing transcription factor binding (GO:0001103)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)		VTI1A/TCF7L2(8)	central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(24)|liver(2)|lung(8)|ovary(1)|skin(1)	41		Breast(234;0.058)|Colorectal(252;0.0615)		Epithelial(162;0.00554)|all cancers(201;0.02)		CCTGAAGCCCGACCCCCTGGC	0.692			T	VTI1A	colorectal																																	ENST00000545257.1				Dom	yes		10	10q25.3	6934	T	transcription factor 7-like 2			E	VTI1A		colorectal	VTI1A/TCF7L2(8)	0				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(24)|liver(2)|lung(8)|ovary(1)|skin(1)	41						c.(1621-1623)Gac>Aac		transcription factor 7-like 2 (T-cell specific, HMG-box)							55	62	60					10																	114925492		2203	4300	6503	SO:0001583	missense	6934				anti-apoptosis|blood vessel development|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell cycle arrest|cell proliferation|fat cell differentiation|glucose homeostasis|maintenance of DNA repeat elements|myoblast cell fate commitment|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|pancreas development|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of insulin secretion|positive regulation of protein binding|positive regulation of protein export from nucleus|positive regulation of protein kinase B signaling cascade|positive regulation of transcription from RNA polymerase II promoter|regulation of hormone metabolic process|regulation of smooth muscle cell proliferation|response to glucose stimulus	beta-catenin-TCF7L2 complex|PML body|protein-DNA complex	armadillo repeat domain binding|beta-catenin binding|gamma-catenin binding|nuclear hormone receptor binding|protein kinase binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding	g.chr10:114925492G>A	X62871	CCDS7576.1, CCDS53578.1, CCDS55729.1, CCDS73196.1, CCDS73197.1, CCDS73198.1	10q25.3	2006-11-24			ENSG00000148737	ENSG00000148737			11641	protein-coding gene	gene with protein product		602228		TCF4		1741298	Standard	NM_001146283		Approved	TCF-4	uc001lae.4	Q9NQB0	OTTHUMG00000019070	ENST00000355995.4:c.1621G>A	10.37:g.114925492G>A	ENSP00000348274:p.Asp541Asn					TCF7L2_ENST00000355717.4_3'UTR|TCF7L2_ENST00000355995.4_Missense_Mutation_p.D541N|TCF7L2_ENST00000369397.4_Missense_Mutation_p.D518N|TCF7L2_ENST00000543371.1_Missense_Mutation_p.D524N|TCF7L2_ENST00000536810.1_Missense_Mutation_p.D524N|TCF7L2_ENST00000538897.1_3'UTR|TCF7L2_ENST00000542695.1_Missense_Mutation_p.D257N|TCF7L2_ENST00000466338.1_3'UTR|TCF7L2_ENST00000369386.1_3'UTR	p.D541N			Q9NQB0	TF7L2_HUMAN		Epithelial(162;0.00554)|all cancers(201;0.02)	15	2128	+		Breast(234;0.058)|Colorectal(252;0.0615)	541					B4DRJ8|B9X074|C6ZRJ8|C6ZRK0|E2GH14|E2GH19|E2GH20|E2GH24|E2GH25|E9PFH9|F8W742|F8W7T5|O00185|Q9NQB1|Q9NQB2|Q9NQB3|Q9NQB4|Q9NQB5|Q9NQB6|Q9NQB7|Q9ULC2	Missense_Mutation	SNP	ENST00000355995.4	37	c.1621G>A		.	.	.	.	.	.	.	.	.	.	G	18.25	3.581655	0.65992	.	.	ENSG00000148737	ENST00000355995;ENST00000545257;ENST00000543371;ENST00000536810;ENST00000369397;ENST00000542695	D;D;D;D;D;D	0.98493	-4.91;-4.91;-4.92;-4.96;-4.91;-4.91	5.21	5.21	0.72293	.	0.226096	0.35903	N	0.002916	D	0.98194	0.9403	L	0.36672	1.1	0.43351	D	0.995414	D;D;D;P;P;P;D	0.89917	1.0;0.986;1.0;0.585;0.585;0.813;0.992	D;P;D;B;B;B;P	0.78314	0.981;0.905;0.991;0.113;0.113;0.226;0.491	D	0.99698	1.1003	10	0.52906	T	0.07	-17.111	18.7569	0.91836	0.0:0.0:1.0:0.0	.	541;412;456;501;501;524;518	Q9NQB0;C6ZRK4;C6ZRJ6;C6ZRJ8;C6ZRK5;Q9NQB0-7;Q6FHW4	TF7L2_HUMAN;.;.;.;.;.;.	N	541;541;524;524;518;257	ENSP00000348274:D541N;ENSP00000440547:D541N;ENSP00000444972:D524N;ENSP00000446238:D524N;ENSP00000358404:D518N;ENSP00000443883:D257N	ENSP00000348274:D541N	D	+	1	0	TCF7L2	114915482	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.134000	0.77268	2.417000	0.82017	0.655000	0.94253	GAC		0.692	TCF7L2-203	KNOWN	basic	protein_coding	protein_coding		NM_030756		6	122	0	0	0	1	0	6	122					A	114925492	G	A	114925492	3	1	363	1	0	0	0	0	1	0	0	0	15695	1058	37	2	1901	2	TCF7L2	10	114925492	Missense_Mutation	SNP	G	TCGA-QU-A6IP-01A-11D-A31L-08	26156342	114925492	20609255	16	18147											
ATE1	11101	broad.mit.edu	37	chr10	123659394	123659395	+	Frame_Shift_Ins	INS	-	-	GC																															gctgacctggctttcggttgINSgcgtatcaggtgggttcttg																										TCGA-QU-A6IP-01A-11D-A31L-08	TCGA-QU-A6IP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8522e5d6-2758-432a-a023-6e6dc07e9893	148f3b38-a40b-4815-a3b4-d00c41470ae4	g.chr10:123659394_123659395insGC	ENST00000224652.6	-	7	1013_1014	c.928_929insGC	c.(928-930)ccafs	p.P310fs	ATE1_ENST00000543447.1_Frame_Shift_Ins_p.P195fs|ATE1_ENST00000369043.3_Intron|ATE1_ENST00000540606.1_Intron|ATE1_ENST00000481784.1_Intron|ATE1_ENST00000369040.3_Intron|ATE1_ENST00000535655.1_Frame_Shift_Ins_p.P11fs	NM_001001976.1	NP_001001976.1	O95260	ATE1_HUMAN	arginyltransferase 1	310					protein arginylation (GO:0016598)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	arginyltransferase activity (GO:0004057)			endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		all_neural(114;0.061)|Lung NSC(174;0.095)|all_lung(145;0.124)|Breast(234;0.212)				GCTTTCGGTTGGCGTATCAGGT	0.431																																						ENST00000535655.1																			0				endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						c.(31-33)aacfs		arginyltransferase 1																																				SO:0001589	frameshift_variant	11101				protein arginylation	cytoplasm|nucleus	acyltransferase activity|arginyltransferase activity	g.chr10:123659394_123659395insGC	AF079098	CCDS31299.1, CCDS31300.1, CCDS73211.1, CCDS73212.1, CCDS73213.1	10q26	2013-05-08			ENSG00000107669	ENSG00000107669	2.3.2.8		782	protein-coding gene	gene with protein product		607103				16002466, 16943202	Standard	XM_005269458		Approved		uc001lfq.3	O95260	OTTHUMG00000019178	ENST00000224652.6:c.927_928dupGC	10.37:g.123659395_123659396dupGC	ENSP00000224652:p.Pro310fs					ATE1_ENST00000540606.1_Intron|ATE1_ENST00000224652.6_Frame_Shift_Ins_p.N310fs|ATE1_ENST00000543447.1_Frame_Shift_Ins_p.N195fs|ATE1_ENST00000369043.3_Intron|ATE1_ENST00000481784.1_Intron|ATE1_ENST00000369040.3_Intron	p.N11fs			O95260	ATE1_HUMAN			5	983_984	-		all_neural(114;0.061)|Lung NSC(174;0.095)|all_lung(145;0.124)|Breast(234;0.212)	310	AGGSPSV -> GGGFAAS (in Ref. 4; AAD12366).				O95261|Q5SQQ3|Q8WW04	Frame_Shift_Ins	INS	ENST00000224652.6	37	c.31_32insGC	CCDS31300.1																																																																																				0.431	ATE1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_001001976		15	71						15	71	---	---	---	---	GC	123659395	-	GC	123659394	7	5	363	1	0	1	1	0	0	0	0	0	1078	1348	47	0	784	0	ATE1	10	123659394	Frame_Shift_Ins	INS	-	TCGA-QU-A6IP-01A-11D-A31L-08	8733902	123659394	11875353	17	18148											
OR10G4	390264	broad.mit.edu	37	chr11	123886915	123886915	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tggcctcaggctgctttgtcCtgatagtgctgtcctatgtg	4	15	12	10	0	1	1	1	1	0	0	3	1	3	1	3	2	2	3	3	2	2	3			TCGA-QU-A6IP-01A-11D-A31L-08	TCGA-QU-A6IP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8522e5d6-2758-432a-a023-6e6dc07e9893	148f3b38-a40b-4815-a3b4-d00c41470ae4	g.chr11:123886915C>T	ENST00000320891.4	+	1	634	c.634C>T	c.(634-636)Ctg>Ttg	p.L212L		NM_001004462.1	NP_001004462.1	Q8NGN3	O10G4_HUMAN	olfactory receptor, family 10, subfamily G, member 4	212						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)|skin(4)|stomach(6)|upper_aerodigestive_tract(1)	48		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401)		CTGCTTTGTCCTGATAGTGCT	0.562																																						ENST00000320891.4																			0				NS(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)|skin(4)|stomach(6)|upper_aerodigestive_tract(1)	48						c.(634-636)Ctg>Ttg		olfactory receptor, family 10, subfamily G, member 4							268	221	237					11																	123886915		2201	4299	6500	SO:0001819	synonymous_variant	390264				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:123886915C>T	AB065757	CCDS31702.1	11q24.1	2012-08-09			ENSG00000254737	ENSG00000254737		"GPCR / Class A : Olfactory receptors"	14809	protein-coding gene	gene with protein product							Standard	NM_001004462		Approved		uc010sac.2	Q8NGN3	OTTHUMG00000165966	ENST00000320891.4:c.634C>T	11.37:g.123886915C>T							p.L212L	NM_001004462.1	NP_001004462.1	Q8NGN3	O10G4_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401)	1	634	+		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	212					Q6IEW0	Silent	SNP	ENST00000320891.4	37	c.634C>T	CCDS31702.1																																																																																				0.562	OR10G4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387268.1	NM_001004462		24	95	0	0	0	1	0	24	95					T	123886915	C	T	123886915	2	4	363	1	0	0	0	0	0	0	0	1	10901	680	24	3		3	OR10G4	11	123886915	Silent	SNP	C	TCGA-QU-A6IP-01A-11D-A31L-08		123886915	11119601	18	18149											
PRB4	5545	broad.mit.edu	37	chr12	11461248	11461248	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtggaggtggcccctggggCtttccagcaggaggtgcctg	4	8	19	10	0	0	0	0	0	0	0	1	2	1	2	4	8	2	2	4	8	0	1			TCGA-QU-A6IP-01A-11D-A31L-08	TCGA-QU-A6IP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8522e5d6-2758-432a-a023-6e6dc07e9893	148f3b38-a40b-4815-a3b4-d00c41470ae4	g.chr12:11461248C>T	ENST00000535904.1	-	3	702	c.669G>A	c.(667-669)aaG>aaA	p.K223K	PRB4_ENST00000279575.1_Silent_p.K223K|PRB4_ENST00000445719.2_Silent_p.K154K			P10163	PRB4_HUMAN	proline-rich protein BstNI subfamily 4	0	9.5 X 21 AA tandem repeats of K-P-[EQ]- [GR]-[PR]-[PR]-P-Q-G-G-N-Q-[PS]-[QH]- [RG]-[PT]-P-P-[PH]-P-G.					extracellular region (GO:0005576)				breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|skin(4)|upper_aerodigestive_tract(3)	30						GCCCCTGGGGCTTTCCAGCAG	0.622										HNSCC(22;0.051)																												ENST00000279575.1																			0				breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|skin(4)|upper_aerodigestive_tract(3)	30						c.(667-669)aaG>aaA		proline-rich protein BstNI subfamily 4							93	104	100					12																	11461248		2203	4300	6503	SO:0001819	synonymous_variant	5545					extracellular region		g.chr12:11461248C>T		CCDS8641.1, CCDS58208.1	12p13.2	2012-10-02			ENSG00000230657	ENSG00000230657			9340	protein-coding gene	gene with protein product		180990					Standard	NM_002723		Approved		uc001qzt.4	P10163	OTTHUMG00000169116	ENST00000535904.1:c.669G>A	12.37:g.11461248C>T		HNSCC(22;0.051)				PRB4_ENST00000445719.2_Silent_p.K154K|PRB4_ENST00000535904.1_Silent_p.K223K	p.K223K	NM_001261399.1|NM_002723.4	NP_001248328.1|NP_002714.2	P10163	PRB4_HUMAN			3	702	-			286			9.5 X 21 AA tandem repeats of K-P-[EQ]- [GR]-[PR]-[PR]-P-Q-G-G-N-Q-[PS]-[QH]- [RG]-[PT]-P-P-[PH]-P-G.		A1L439|O00600|P02813|P10161|P10162|P81489	Silent	SNP	ENST00000535904.1	37	c.669G>A	CCDS8641.1																																																																																				0.622	PRB4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000402308.1	NM_002723		43	132	0	0	0	1	0	43	132					T	11461248	C	T	11461248	2	4	363	1	0	0	0	0	0	0	0	1	12445	796	28	3		3	PRB4	12	11461248	Silent	SNP	C	TCGA-QU-A6IP-01A-11D-A31L-08		11461248	122390647	19	18150											
ITPR2	3709	broad.mit.edu	37	chr12	26564280	26564280	+	Frame_Shift_Del	DEL	A	A	-																															tgaagctggaattgtgggtgAacagttctccttggcacatg																										TCGA-QU-A6IP-01A-11D-A31L-08	TCGA-QU-A6IP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8522e5d6-2758-432a-a023-6e6dc07e9893	148f3b38-a40b-4815-a3b4-d00c41470ae4	g.chr12:26564280delA	ENST00000381340.3	-	52	7788	c.7372delT	c.(7372-7374)tcafs	p.S2458fs	RP11-513G19.1_ENST00000535324.1_RNA	NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	2458					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|cellular response to cAMP (GO:0071320)|cellular response to ethanol (GO:0071361)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|regulation of insulin secretion (GO:0050796)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	cell cortex (GO:0005938)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|receptor complex (GO:0043235)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion transmembrane transporter activity (GO:0015085)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|phosphatidylinositol binding (GO:0035091)		ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)				Caffeine(DB00201)	ATTGTGGGTGAACAGTTCTCC	0.353																																						ENST00000381340.3																		ETV6/ITPR2(2)	0				biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125						c.(7372-7374)cafs		inositol 1,4,5-trisphosphate receptor, type 2							129	120	123					12																	26564280		1878	4110	5988	SO:0001589	frameshift_variant	3709				activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity	g.chr12:26564280delA	D26350	CCDS41764.1	12p11.23	2014-07-18	2011-04-28		ENSG00000123104	ENSG00000123104		"Ion channels / Inositol triphosphate receptors"	6181	protein-coding gene	gene with protein product	"cilia and flagella associated protein 48"	600144	"inositol 1,4,5-triphosphate receptor, type 2"			8081734	Standard	XM_006719064		Approved	IP3R2, CFAP48	uc001rhg.3	Q14571	OTTHUMG00000169181	ENST00000381340.3:c.7372delT	12.37:g.26564280delA	ENSP00000370744:p.Ser2458fs					RP11-513G19.1_ENST00000535324.1_RNA	p.S2458fs	NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN			52	7788	-	Colorectal(261;0.0847)		2458					O94773	Frame_Shift_Del	DEL	ENST00000381340.3	37	c.7372delT	CCDS41764.1																																																																																				0.353	ITPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402732.1	NM_002223		22	58						22	58	---	---	---	---	-	26564280	A	-	26564280	7	5	363	1	0	1	0	1	0	0	0	0	7921	246	9	0	757	0	ITPR2	12	26564280	Frame_Shift_Del	DEL	A	TCGA-QU-A6IP-01A-11D-A31L-08	15103032	26564280	107287615	20	18151											
PTGR2	145482	broad.mit.edu	37	chr14	74346776	74346776	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agatgaatgagaacagccacAtcatcctgtgtggtcaaatt	14	10	9	8	0	2	3	2	2	0	2	3	4	3	3	2	1	2	0	2	1	3	1			TCGA-QU-A6IP-01A-11D-A31L-08	TCGA-QU-A6IP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8522e5d6-2758-432a-a023-6e6dc07e9893	148f3b38-a40b-4815-a3b4-d00c41470ae4	g.chr14:74346776A>G	ENST00000555661.1	+	7	893	c.748A>G	c.(748-750)Atc>Gtc	p.I250V	RP5-1021I20.4_ENST00000556551.2_Missense_Mutation_p.I180V|PTGR2_ENST00000555228.1_Missense_Mutation_p.I250V|PTGR2_ENST00000553813.1_Missense_Mutation_p.I116V|PTGR2_ENST00000267568.4_Missense_Mutation_p.I250V			Q8N8N7	PTGR2_HUMAN	prostaglandin reductase 2	250					prostaglandin metabolic process (GO:0006693)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	13-prostaglandin reductase activity (GO:0036132)|15-oxoprostaglandin 13-oxidase activity (GO:0047522)			NS(1)|large_intestine(3)|lung(2)|prostate(1)|skin(2)	9					Indomethacin(DB00328)	GAACAGCCACATCATCCTGTG	0.413																																					Esophageal Squamous(98;1155 1417 16452 47043 47872)	ENST00000555661.1																			0				NS(1)|large_intestine(3)|lung(2)|prostate(1)|skin(2)	9						c.(748-750)Atc>Gtc		prostaglandin reductase 2							117	108	111					14																	74346776		2203	4300	6503	SO:0001583	missense	145482				prostaglandin metabolic process		15-oxoprostaglandin 13-oxidase activity|zinc ion binding	g.chr14:74346776A>G	AK096410	CCDS9820.1	14q24.1-q24.2	2008-06-04	2008-06-02	2008-06-03		ENSG00000140043			20149	protein-coding gene	gene with protein product		608642	"zinc binding alcohol dehydrogenase domain containing 1"	ZADH1		17449869	Standard	NM_152444		Approved	FLJ39091	uc001xow.3	Q8N8N7		ENST00000555661.1:c.748A>G	14.37:g.74346776A>G	ENSP00000452280:p.Ile250Val					PTGR2_ENST00000267568.4_Missense_Mutation_p.I250V|PTGR2_ENST00000555228.1_Missense_Mutation_p.I250V|RP5-1021I20.4_ENST00000553813.1_Missense_Mutation_p.I116V|PTGR2_ENST00000554885.1_Missense_Mutation_p.I201V	p.I250V			Q8N8N7	PTGR2_HUMAN			7	893	+			250					Q3L8A4|Q6MZH8	Missense_Mutation	SNP	ENST00000555661.1	37	c.748A>G	CCDS9820.1	.	.	.	.	.	.	.	.	.	.	A	10.25	1.297852	0.23650	.	.	ENSG00000140043;ENSG00000140043;ENSG00000140043;ENSG00000140043;ENSG00000258653	ENST00000555228;ENST00000555661;ENST00000267568;ENST00000554885;ENST00000553813	T;T;T;T;T	0.03831	3.79;3.79;3.79;3.79;3.79	5.63	3.3	0.37823	Alcohol dehydrogenase, C-terminal (1);NAD(P)-binding domain (1);	0.215617	0.48767	N	0.000179	T	0.02848	0.0085	N	0.12569	0.235	0.47547	D	0.999455	B	0.06786	0.001	B	0.12156	0.007	T	0.50065	-0.8871	10	0.18710	T	0.47	-6.1229	9.327	0.37999	0.8072:0.0:0.1928:0.0	.	250	Q8N8N7	PTGR2_HUMAN	V	250;250;250;201;116	ENSP00000450975:I250V;ENSP00000452280:I250V;ENSP00000267568:I250V;ENSP00000451158:I201V;ENSP00000450824:I116V	ENSP00000267568:I250V	I	+	1	0	RP5-1021I20.4;PTGR2	73416529	1.000000	0.71417	0.998000	0.56505	0.922000	0.55478	2.557000	0.45871	0.967000	0.38186	0.482000	0.46254	ATC		0.413	PTGR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412575.1			14	33	0	0	0	1	0	14	33					G	74346776	A	G	74346776	3	3	363	1	0	0	0	0	1	0	0	0	12754	217	8	4	770	4	PTGR2	14	74346776	Missense_Mutation	SNP	A	TCGA-QU-A6IP-01A-11D-A31L-08		74346776	33002764	21	18152											
RYR3	6263	broad.mit.edu	37	chr15	34015067	34015067	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tctgagaacccagcgctcgaCctcccctctcaaggatacaa	11	7	7	16	2	2	1	1	1	2	1	5	4	3	2	4	1	3	1	4	1	4	1			TCGA-QU-A6IP-01A-11D-A31L-08	TCGA-QU-A6IP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8522e5d6-2758-432a-a023-6e6dc07e9893	148f3b38-a40b-4815-a3b4-d00c41470ae4	g.chr15:34015067C>T	ENST00000389232.4	+	44	6841	c.6771C>T	c.(6769-6771)gaC>gaT	p.D2257D	RYR3_ENST00000415757.3_Silent_p.D2257D|Y_RNA_ENST00000363138.1_RNA	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	2257	4 X approximate repeats.				calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		CAGCGCTCGACCTCCCCTCTC	0.557																																						ENST00000389232.4																			0				NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311						c.(6769-6771)gaC>gaT		ryanodine receptor 3							82	85	84					15																	34015067		1927	4118	6045	SO:0001819	synonymous_variant	6263				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr15:34015067C>T		CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"Ion channels / Ryanodine receptors", "EF-hand domain containing"	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.6771C>T	15.37:g.34015067C>T						RYR3_ENST00000415757.3_Silent_p.D2257D	p.D2257D	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)	44	6841	+		all_lung(180;7.18e-09)	2257			4 X approximate repeats.		O15175|Q15412	Silent	SNP	ENST00000389232.4	37	c.6771C>T	CCDS45210.1																																																																																				0.557	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1			38	88	0	0	0	1	0	38	88					T	34015067	C	T	34015067	2	4	363	1	0	0	0	0	0	0	0	1	13770	506	18	3		3	RYR3	15	34015067	Silent	SNP	C	TCGA-QU-A6IP-01A-11D-A31L-08		34015067	68516325	22	18153											
ARMC5	79798	broad.mit.edu	37	chr16	31473879	31473881	+	In_Frame_Del	DEL	TAA	TAA	-																															ctccggcagcgccgggatccTaatggagctagcccaacctc																										TCGA-QU-A6IP-01A-11D-A31L-08	TCGA-QU-A6IP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8522e5d6-2758-432a-a023-6e6dc07e9893	148f3b38-a40b-4815-a3b4-d00c41470ae4	g.chr16:31473879_31473881delTAA	ENST00000563544.1	+	4	1557_1559	c.1011_1013delTAA	c.(1009-1014)cctaat>cct	p.N338del	ARMC5_ENST00000268314.4_In_Frame_Del_p.N338del|RP11-452L6.5_ENST00000564629.1_RNA|ARMC5_ENST00000412665.2_Intron|ARMC5_ENST00000538189.1_In_Frame_Del_p.N370del|ARMC5_ENST00000457010.2_In_Frame_Del_p.N338del|ARMC5_ENST00000408912.3_In_Frame_Del_p.N433del			Q96C12	ARMC5_HUMAN	armadillo repeat containing 5	338										central_nervous_system(1)|endometrium(4)|large_intestine(3)|liver(2)|lung(12)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						GCCGGGATCCTAATGGAGCTAGC	0.66																																						ENST00000457010.2																			0				central_nervous_system(1)|endometrium(4)|large_intestine(3)|liver(2)|lung(12)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						c.(1009-1014)cct>cc		armadillo repeat containing 5																																				SO:0001651	inframe_deletion	79798						binding	g.chr16:31473879_31473881delTAA	AY217348	CCDS42155.1, CCDS45472.1, CCDS73874.1	16p11	2013-02-14			ENSG00000140691	ENSG00000140691		"Armadillo repeat containing"	25781	protein-coding gene	gene with protein product		615549					Standard	NM_024742		Approved	FLJ13063	uc002ecc.3	Q96C12	OTTHUMG00000176618	ENST00000563544.1:c.1011_1013delTAA	16.37:g.31473879_31473881delTAA	ENSP00000456877:p.Asn338del					ARMC5_ENST00000268314.4_In_Frame_Del_p.PN337del|ARMC5_ENST00000538189.1_In_Frame_Del_p.PN369del|ARMC5_ENST00000563544.1_In_Frame_Del_p.PN337del|ARMC5_ENST00000412665.2_Intron|ARMC5_ENST00000408912.3_In_Frame_Del_p.PN432del	p.PN337del	NM_024742.2	NP_079018.1	Q96C12	ARMC5_HUMAN			3	1712_1714	+			337					Q86WM9|Q9H7P8|Q9H925	In_Frame_Del	DEL	ENST00000563544.1	37	c.1011_1013delTAA	CCDS45472.1																																																																																				0.66	ARMC5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432847.1	NM_024742		9	69						9	69	---	---	---	---	-	31473881	TAA	-	31473879	7	5	363	1	0	1	0	1	0	0	0	0	954	1509	53	0	1021	0	ARMC5	16	31473879	In_Frame_Del	DEL	TAA	TCGA-QU-A6IP-01A-11D-A31L-08		31473879	58880874	23	18154											
SSH2	85464	broad.mit.edu	37	chr17	27963447	27963447	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccaggctgaattaaggcttTggatgcatggcaattgtcaa	11	12	11	7	0	1	1	1	1	0	0	2	2	2	2	1	4	1	4	1	4	4	3			TCGA-QU-A6IP-01A-11D-A31L-08	TCGA-QU-A6IP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8522e5d6-2758-432a-a023-6e6dc07e9893	148f3b38-a40b-4815-a3b4-d00c41470ae4	g.chr17:27963447T>C	ENST00000269033.3	-	14	1871	c.1720A>G	c.(1720-1722)Aaa>Gaa	p.K574E	RP11-68I3.2_ENST00000581474.1_RNA|SSH2_ENST00000540801.1_Missense_Mutation_p.K601E	NM_001282129.1|NM_033389.2	NP_001269058.1|NP_203747.2	Q76I76	SSH2_HUMAN	slingshot protein phosphatase 2	574					actin cytoskeleton organization (GO:0030036)|protein dephosphorylation (GO:0006470)|regulation of actin polymerization or depolymerization (GO:0008064)|regulation of axonogenesis (GO:0050770)|regulation of lamellipodium assembly (GO:0010591)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular space (GO:0005615)	actin binding (GO:0003779)|DNA binding (GO:0003677)|phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)		SSH2/SUZ12(2)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						ATTAAGGCTTTGGATGCATGG	0.403																																						ENST00000269033.3																		SSH2/SUZ12(2)	0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						c.(1720-1722)Aaa>Gaa		slingshot protein phosphatase 2							98	92	94					17																	27963447		2203	4300	6503	SO:0001583	missense	85464				actin cytoskeleton organization|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly	cytoplasm|cytoskeleton	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr17:27963447T>C	AB072359	CCDS11253.1, CCDS74024.1	17q11.2	2013-03-05	2013-03-05		ENSG00000141298	ENSG00000141298		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Slingshots"	30580	protein-coding gene	gene with protein product		606779	"slingshot homolog 2 (Drosophila)"			11832213, 11214970	Standard	XM_005258059		Approved	KIAA1725	uc002heo.1	Q76I76	OTTHUMG00000132752	ENST00000269033.3:c.1720A>G	17.37:g.27963447T>C	ENSP00000269033:p.Lys574Glu					RP11-68I3.2_ENST00000581474.1_RNA|SSH2_ENST00000540801.1_Missense_Mutation_p.K601E	p.K574E	NM_033389.2	NP_203747.2	Q76I76	SSH2_HUMAN			14	1871	-			574					Q8TDB5|Q8WYL1|Q8WYL2|Q96F40|Q96H36|Q9C0D8	Missense_Mutation	SNP	ENST00000269033.3	37	c.1720A>G	CCDS11253.1	.	.	.	.	.	.	.	.	.	.	T	12.02	1.813490	0.32053	.	.	ENSG00000141298	ENST00000269033;ENST00000540801	T;T	0.20069	2.1;2.1	6.16	5.06	0.68205	.	0.435246	0.25795	N	0.028256	T	0.11580	0.0282	L	0.38838	1.175	0.80722	D	1	B;B	0.11235	0.004;0.002	B;B	0.13407	0.009;0.004	T	0.21724	-1.0237	10	0.02654	T	1	-20.365	3.5276	0.07765	0.0:0.2969:0.0:0.7031	.	601;574	F5H527;Q76I76	.;SSH2_HUMAN	E	574;601	ENSP00000269033:K574E;ENSP00000444743:K601E	ENSP00000269033:K574E	K	-	1	0	SSH2	24987573	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.816000	0.55658	2.367000	0.80283	0.528000	0.53228	AAA		0.403	SSH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256116.1	NM_033389		3	52	0	0	0	1	0	3	52					C	27963447	T	C	27963447	3	2	363	1	0	0	0	0	1	0	0	0	15184	1821	63	4	2559	4	SSH2	17	27963447	Missense_Mutation	SNP	T	TCGA-QU-A6IP-01A-11D-A31L-08		27963447	53231763	24	18155											
NPLOC4	55666	broad.mit.edu	37	chr17	79577247	79577247	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gactctcacctctagagggaCgcagtgcacgcatttcccca	9	8	9	15	2	2	1	1	0	2	1	4	3	3	2	3	1	1	3	3	1	1	2			TCGA-QU-A6IP-01A-11D-A31L-08	TCGA-QU-A6IP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8522e5d6-2758-432a-a023-6e6dc07e9893	148f3b38-a40b-4815-a3b4-d00c41470ae4	g.chr17:79577247C>T	ENST00000331134.6	-	5	639	c.424G>A	c.(424-426)Gtc>Atc	p.V142I	NPLOC4_ENST00000539314.1_Intron|NPLOC4_ENST00000574344.1_5'UTR|NPLOC4_ENST00000374747.5_Missense_Mutation_p.V142I	NM_017921.2	NP_060391.2	Q8TAT6	NPL4_HUMAN	nuclear protein localization 4 homolog (S. cerevisiae)	142					ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|Golgi organization (GO:0007030)|membrane fusion (GO:0061025)	endoplasmic reticulum (GO:0005783)|nuclear outer membrane-endoplasmic reticulum membrane network (GO:0042175)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)	11	all_neural(118;0.0878)|Melanoma(429;0.242)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0739)			TCTAGAGGGACGCAGTGCACG	0.587																																						ENST00000374747.5																			0				central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)	11						c.(424-426)Gtc>Atc		nuclear protein localization 4 homolog (S. cerevisiae)							36	39	38					17																	79577247		2057	4189	6246	SO:0001583	missense	55666				cellular membrane fusion|ER-associated protein catabolic process|Golgi organization	cytosol|endoplasmic reticulum|nuclear outer membrane-endoplasmic reticulum membrane network|nucleus	zinc ion binding	g.chr17:79577247C>T	AB040932	CCDS45812.1	17q25.3	2012-09-20			ENSG00000182446	ENSG00000182446			18261	protein-coding gene	gene with protein product		606590				11574150, 10811609	Standard	NM_017921		Approved	NPL4, FLJ20657, KIAA1499	uc002kas.3	Q8TAT6	OTTHUMG00000177990	ENST00000331134.6:c.424G>A	17.37:g.79577247C>T	ENSP00000331487:p.Val142Ile					NPLOC4_ENST00000539314.1_Intron|NPLOC4_ENST00000574344.1_5'UTR|NPLOC4_ENST00000331134.6_Missense_Mutation_p.V142I	p.V142I			Q8TAT6	NPL4_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0739)		5	553	-	all_neural(118;0.0878)|Melanoma(429;0.242)|all_lung(278;0.246)		142					Q8N3J1|Q9H8V2|Q9H964|Q9NWR5|Q9P229	Missense_Mutation	SNP	ENST00000331134.6	37	c.424G>A	CCDS45812.1	.	.	.	.	.	.	.	.	.	.	C	15.30	2.791497	0.50102	.	.	ENSG00000182446	ENST00000331134;ENST00000374747	.	.	.	5.28	5.28	0.74379	NPL4, zinc-binding putative (1);	0.000000	0.85682	D	0.000000	T	0.47857	0.1468	L	0.38531	1.155	0.80722	D	1	P;B	0.37141	0.584;0.279	B;B	0.34452	0.176;0.183	T	0.40213	-0.9575	9	0.16896	T	0.51	-16.8462	18.9311	0.92566	0.0:1.0:0.0:0.0	.	142;142	Q8TAT6-2;Q8TAT6	.;NPL4_HUMAN	I	142;141	.	ENSP00000331487:V142I	V	-	1	0	NPLOC4	77187689	1.000000	0.71417	0.923000	0.36655	0.351000	0.29236	7.398000	0.79919	2.637000	0.89404	0.650000	0.86243	GTC		0.587	NPLOC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440140.1			3	4	0	0	0	1	0	3	4					T	79577247	C	T	79577247	3	4	363	1	0	0	0	0	1	0	0	0	10586	536	19	1	1454	1	NPLOC4	17	79577247	Missense_Mutation	SNP	C	TCGA-QU-A6IP-01A-11D-A31L-08	51613800	79577247	1617963	25	18156											
RFX1	5989	broad.mit.edu	37	chr19	14083867	14083867	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acctgggtggccgtgcctgcGgcctcgtagtagctggtgct	3	10	16	12	3	0	0	0	0	0	0	1	0	0	0	4	4	4	4	4	4	2	2			TCGA-QU-A6IP-01A-11D-A31L-08	TCGA-QU-A6IP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8522e5d6-2758-432a-a023-6e6dc07e9893	148f3b38-a40b-4815-a3b4-d00c41470ae4	g.chr19:14083867G>A	ENST00000254325.4	-	9	1236	c.1002C>T	c.(1000-1002)gcC>gcT	p.A334A		NM_002918.4	NP_002909.4	P22670	RFX1_HUMAN	regulatory factor X, 1 (influences HLA class II expression)	334					immune response (GO:0006955)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(19;6.67e-23)			CCGTGCCTGCGGCCTCGTAGT	0.667																																						ENST00000254325.4																			0				NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	21						c.(1000-1002)gcC>gcT		regulatory factor X, 1 (influences HLA class II expression)							27	24	25					19																	14083867		2190	4281	6471	SO:0001819	synonymous_variant	5989				immune response	nucleus	DNA binding|protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity	g.chr19:14083867G>A		CCDS12301.1	19p13.1	2008-07-17				ENSG00000132005			9982	protein-coding gene	gene with protein product	"trans-acting regulatory factor 1", "enhancer factor C", "MHC class II regulatory factor RFX"	600006				1505960, 8289803	Standard	NM_002918		Approved	EF-C	uc002mxv.3	P22670		ENST00000254325.4:c.1002C>T	19.37:g.14083867G>A							p.A334A	NM_002918.4	NP_002909.4	P22670	RFX1_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;6.67e-23)		9	1236	-			334						Silent	SNP	ENST00000254325.4	37	c.1002C>T	CCDS12301.1																																																																																				0.667	RFX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458510.1	NM_002918		12	37	0	0	0	1	0	12	37					A	14083867	G	A	14083867	2	1	363	1	0	0	0	0	0	0	0	1	13262	1103	39	2		2	RFX1	19	14083867	Silent	SNP	G	TCGA-QU-A6IP-01A-11D-A31L-08		14083867	45045116	26	18157											
NXF3	56000	broad.mit.edu	37	chrX	102337986	102337986	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttcctgggagacatcacactGttggttcatggccagctgca	8	11	11	11	0	2	1	2	0	0	1	3	2	3	1	2	3	2	4	2	3	0	3			TCGA-QU-A6IP-01A-11D-A31L-08	TCGA-QU-A6IP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8522e5d6-2758-432a-a023-6e6dc07e9893	148f3b38-a40b-4815-a3b4-d00c41470ae4	g.chrX:102337986G>A	ENST00000395065.3	-	7	738	c.637C>T	c.(637-639)Cag>Tag	p.Q213*	NXF3_ENST00000425463.2_Nonsense_Mutation_p.Q124*|NXF3_ENST00000425644.1_5'UTR	NM_022052.1	NP_071335.1	Q9H4D5	NXF3_HUMAN	nuclear RNA export factor 3	213					mRNA export from nucleus (GO:0006406)|poly(A)+ mRNA export from nucleus (GO:0016973)	cytoplasm (GO:0005737)|nuclear RNA export factor complex (GO:0042272)|nucleus (GO:0005634)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)			NS(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(15)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26						ACATCACACTGTTGGTTCATG	0.512																																						ENST00000395065.3																			0				NS(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(15)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26						c.(637-639)Cag>Tag		nuclear RNA export factor 3							200	191	194					X																	102337986		2203	4300	6503	SO:0001587	stop_gained	56000					cytoplasm|nuclear RNA export factor complex	nucleocytoplasmic transporter activity|nucleotide binding|protein binding	g.chrX:102337986G>A	AJ277527	CCDS14503.1	Xq22	2008-02-05			ENSG00000147206	ENSG00000147206			8073	protein-coding gene	gene with protein product		300316				11073998	Standard	NM_022052		Approved		uc004eju.3	Q9H4D5	OTTHUMG00000022088	ENST00000395065.3:c.637C>T	X.37:g.102337986G>A	ENSP00000378504:p.Gln213*					NXF3_ENST00000425644.1_5'UTR|NXF3_ENST00000425463.2_Nonsense_Mutation_p.Q124*	p.Q213*	NM_022052.1	NP_071335.1	Q9H4D5	NXF3_HUMAN			7	738	-			213					B4DYS7|Q5H9I1|Q9H1A9	Nonsense_Mutation	SNP	ENST00000395065.3	37	c.637C>T	CCDS14503.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.1|20.1	3.937525|3.937525	0.73557|0.73557	.|.	.|.	ENSG00000147206|ENSG00000147206	ENST00000395065;ENST00000425463|ENST00000427570	.|.	.|.	.|.	3.64|3.64	-3.0|-3.0	0.05480|0.05480	.|.	2.979100|.	0.02853|.	N|.	0.129352|.	.|T	.|0.17152	.|0.0412	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.22906	.|-1.0203	.|3	0.59425|.	D|.	0.04|.	25.6519|25.6519	0.1422|0.1422	0.00084|0.00084	0.3159:0.1489:0.2298:0.3054|0.3159:0.1489:0.2298:0.3054	.|.	.|.	.|.	.|.	X|I	213;124|89	.|.	ENSP00000378504:Q213X|.	Q|T	-|-	1|2	0|0	NXF3|NXF3	102224642|102224642	0.430000|0.430000	0.25538|0.25538	0.000000|0.000000	0.03702|0.03702	0.000000|0.000000	0.00434|0.00434	0.577000|0.577000	0.23758|0.23758	-0.975000|-0.975000	0.03546|0.03546	-0.881000|-0.881000	0.02953|0.02953	CAG|ACA		0.512	NXF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057684.1	NM_022052		71	71	0	0	0	1	0	71	71					A	102337986	G	A	102337986	4	1	363	1	0	0	0	0	0	1	0	0	10785	1386	48	3	1010	3	NXF3	23	102337986	Nonsense_Mutation	SNP	G	TCGA-QU-A6IP-01A-11D-A31L-08		102337986	52932574	27	18158											
ACTRT1	139741	broad.mit.edu	37	chrX	127185962	127185962	+	Missense_Mutation	SNP	T	T	G																															atcctgttaccagtccacgcTcaatggggtagtgcaaatgt																										TCGA-QU-A6IP-01A-11D-A31L-08	TCGA-QU-A6IP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8522e5d6-2758-432a-a023-6e6dc07e9893	148f3b38-a40b-4815-a3b4-d00c41470ae4	g.chrX:127185962T>G	ENST00000371124.3	-	1	420	c.224A>C	c.(223-225)gAg>gCg	p.E75A		NM_138289.3	NP_612146.1	Q8TDG2	ACTT1_HUMAN	actin-related protein T1	75						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3)	34						CAGTCCACGCTCAATGGGGTA	0.468																																						ENST00000371124.3																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3)	34						c.(223-225)gAg>gCg		actin-related protein T1							166	154	158					X																	127185962		2203	4300	6503	SO:0001583	missense	139741					cytoplasm|cytoskeleton		g.chrX:127185962T>G	AF440739	CCDS14611.1	Xq25	2008-02-05	2005-11-22		ENSG00000123165	ENSG00000123165			24027	protein-coding gene	gene with protein product		300487				12243744	Standard	NM_138289		Approved	AIP1, KIAA0705, ARIP1, Arp-T1	uc004eum.3	Q8TDG2	OTTHUMG00000022359	ENST00000371124.3:c.224A>C	X.37:g.127185962T>G	ENSP00000360165:p.Glu75Ala						p.E75A	NM_138289.3	NP_612146.1	Q8TDG2	ACTT1_HUMAN			1	420	-			75					Q6X7C1|Q96L10	Missense_Mutation	SNP	ENST00000371124.3	37	c.224A>C	CCDS14611.1	.	.	.	.	.	.	.	.	.	.	T	8.026	0.760783	0.15914	.	.	ENSG00000123165	ENST00000371124	D	0.97752	-4.52	3.76	2.57	0.30868	.	0.090484	0.45867	D	0.000339	D	0.97458	0.9168	M	0.86097	2.795	0.34549	D	0.711063	P	0.41366	0.747	P	0.48334	0.574	D	0.98470	1.0600	10	0.87932	D	0	.	7.2364	0.26072	0.2:0.0:0.0:0.7999	.	75	Q8TDG2	ACTT1_HUMAN	A	75	ENSP00000360165:E75A	ENSP00000360165:E75A	E	-	2	0	ACTRT1	127013643	1.000000	0.71417	0.002000	0.10522	0.031000	0.12232	5.462000	0.66707	0.607000	0.29982	0.441000	0.28932	GAG		0.468	ACTRT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058192.1	NM_138289		5	121	0	0	0	1	0	5	121					G	127185962	T	G	127185962	3	3	363	1	0	0	0	0	1	0	0	0	218	1551	54	5	910	5	ACTRT1	23	127185962	Missense_Mutation	SNP	T	TCGA-QU-A6IP-01A-11D-A31L-08	24847976	127185962	28084598	28	18159	92	2									
ACTRT1	139741	broad.mit.edu	37	chrX	127185963	127185963	+	Nonsense_Mutation	SNP	C	C	A																															tcctgttaccagtccacgctCaatggggtagtgcaaatgta																										TCGA-QU-A6IP-01A-11D-A31L-08	TCGA-QU-A6IP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8522e5d6-2758-432a-a023-6e6dc07e9893	148f3b38-a40b-4815-a3b4-d00c41470ae4	g.chrX:127185963C>A	ENST00000371124.3	-	1	419	c.223G>T	c.(223-225)Gag>Tag	p.E75*		NM_138289.3	NP_612146.1	Q8TDG2	ACTT1_HUMAN	actin-related protein T1	75						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3)	34						AGTCCACGCTCAATGGGGTAG	0.463																																						ENST00000371124.3																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3)	34						c.(223-225)Gag>Tag		actin-related protein T1							165	153	157					X																	127185963		2203	4300	6503	SO:0001587	stop_gained	139741					cytoplasm|cytoskeleton		g.chrX:127185963C>A	AF440739	CCDS14611.1	Xq25	2008-02-05	2005-11-22		ENSG00000123165	ENSG00000123165			24027	protein-coding gene	gene with protein product		300487				12243744	Standard	NM_138289		Approved	AIP1, KIAA0705, ARIP1, Arp-T1	uc004eum.3	Q8TDG2	OTTHUMG00000022359	ENST00000371124.3:c.223G>T	X.37:g.127185963C>A	ENSP00000360165:p.Glu75*						p.E75*	NM_138289.3	NP_612146.1	Q8TDG2	ACTT1_HUMAN			1	419	-			75					Q6X7C1|Q96L10	Nonsense_Mutation	SNP	ENST00000371124.3	37	c.223G>T	CCDS14611.1	.	.	.	.	.	.	.	.	.	.	C	16.01	3.000441	0.54147	.	.	ENSG00000123165	ENST00000371124	.	.	.	3.76	1.98	0.26296	.	0.090484	0.45867	D	0.000339	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	6.4851	0.22085	0.0:0.7073:0.1816:0.111	.	.	.	.	X	75	.	ENSP00000360165:E75X	E	-	1	0	ACTRT1	127013644	1.000000	0.71417	0.003000	0.11579	0.022000	0.10575	3.404000	0.52623	0.406000	0.25560	-1.268000	0.01426	GAG		0.463	ACTRT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058192.1	NM_138289		4	115	1	0	0.150653	1	0.150653	4	115					A	127185963	C	A	127185963	4	1	363	1	0	0	0	0	0	1	0	0	218	835	29	5	911	5	ACTRT1	23	127185963	Nonsense_Mutation	SNP	C	TCGA-QU-A6IP-01A-11D-A31L-08	1	127185963	28084597	29	18160	92	2									
PHF13	148479	broad.mit.edu	37	chr1	6680134	6680134	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gaaagaggggtacaggggggGcttgctgaagctggaagccg	10	5	20	6	1	0	2	0	1	0	1	0	4	0	3	1	6	4	4	1	6	4	2			TCGA-SU-A7E7-01A-22D-A33T-08	TCGA-SU-A7E7-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0c3acfc-b0cc-41e0-833d-928662350c68	a31e4ea8-9af6-4430-845c-9eef051c1179	g.chr1:6680134G>C	ENST00000377648.4	+	3	795	c.413G>C	c.(412-414)gGc>gCc	p.G138A	PHF13_ENST00000495385.1_Intron	NM_153812.2	NP_722519.2	Q86YI8	PHF13_HUMAN	PHD finger protein 13	138					chromatin modification (GO:0016568)|chromosome segregation (GO:0007059)|mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)			endometrium(3)|large_intestine(1)|lung(3)	7	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;1.46e-33)|all_epithelial(116;9.26e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Breast(487;0.000353)|Renal(390;0.0007)|Colorectal(325;0.00104)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443)		Colorectal(212;1.19e-07)|COAD - Colon adenocarcinoma(227;1.3e-05)|Kidney(185;4.88e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000501)|KIRC - Kidney renal clear cell carcinoma(229;0.000871)|STAD - Stomach adenocarcinoma(132;0.0165)|READ - Rectum adenocarcinoma(331;0.0642)		TACAGGGGGGGCTTGCTGAAG	0.607																																						ENST00000377648.4																			0				endometrium(3)|large_intestine(1)|lung(3)	7						c.(412-414)gGc>gCc		PHD finger protein 13							37	40	39					1																	6680134		2203	4300	6503	SO:0001583	missense	148479				cell division|chromatin modification|mitotic chromosome condensation	nucleoplasm	chromatin binding|methylated histone residue binding|zinc ion binding	g.chr1:6680134G>C	AK027492	CCDS85.1	1p36.23	2013-01-28			ENSG00000116273	ENSG00000116273		"Zinc fingers, PHD-type"	22983	protein-coding gene	gene with protein product							Standard	NM_153812		Approved	MGC43399	uc001aob.4	Q86YI8	OTTHUMG00000001439	ENST00000377648.4:c.413G>C	1.37:g.6680134G>C	ENSP00000366876:p.Gly138Ala					PHF13_ENST00000495385.1_Intron	p.G138A	NM_153812.2	NP_722519.2	Q86YI8	PHF13_HUMAN		Colorectal(212;1.19e-07)|COAD - Colon adenocarcinoma(227;1.3e-05)|Kidney(185;4.88e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000501)|KIRC - Kidney renal clear cell carcinoma(229;0.000871)|STAD - Stomach adenocarcinoma(132;0.0165)|READ - Rectum adenocarcinoma(331;0.0642)	3	795	+	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;1.46e-33)|all_epithelial(116;9.26e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Breast(487;0.000353)|Renal(390;0.0007)|Colorectal(325;0.00104)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443)	138					B3KUQ7|Q59FB6|Q5TH65|Q8N551|Q9UJP2	Missense_Mutation	SNP	ENST00000377648.4	37	c.413G>C	CCDS85.1	.	.	.	.	.	.	.	.	.	.	G	0.012	-1.680777	0.00745	.	.	ENSG00000116273	ENST00000377648	T	0.39997	1.05	5.47	4.56	0.56223	.	0.902641	0.09796	N	0.754701	T	0.28366	0.0701	N	0.22421	0.69	0.09310	N	0.999999	B	0.12013	0.005	B	0.08055	0.003	T	0.18745	-1.0327	10	0.27785	T	0.31	-5.8892	7.2207	0.25985	0.2623:0.0:0.7376:0.0	.	138	Q86YI8	PHF13_HUMAN	A	138	ENSP00000366876:G138A	ENSP00000366876:G138A	G	+	2	0	PHF13	6602721	0.993000	0.37304	0.208000	0.23602	0.058000	0.15608	3.206000	0.51098	1.307000	0.44944	-0.258000	0.10820	GGC		0.607	PHF13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004201.1	NM_153812		6	62	0	0	0	1	0	6	62					C	6680134	G	C	6680134	3	2	364	1	0	0	0	0	1	0	0	0	11824	1203	42	5	423	5	PHF13	1	6680134	Missense_Mutation	SNP	G	TCGA-SU-A7E7-01A-22D-A33T-08		6680134	242570487	1	18161											
TIE1	7075	broad.mit.edu	37	chr1	43783268	43783268	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aaatgaccatcgtgactttgCgggagaactggaagttctgt	11	11	12	7	2	1	3	0	2	1	1	2	5	1	4	1	2	2	1	1	2	3	2			TCGA-SU-A7E7-01A-22D-A33T-08	TCGA-SU-A7E7-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0c3acfc-b0cc-41e0-833d-928662350c68	a31e4ea8-9af6-4430-845c-9eef051c1179	g.chr1:43783268C>T	ENST00000372476.3	+	16	2733	c.2654C>T	c.(2653-2655)gCg>gTg	p.A885V	TIE1_ENST00000433781.2_Missense_Mutation_p.A530V|TIE1_ENST00000473014.1_3'UTR	NM_001253357.1|NM_005424.4	NP_001240286.1|NP_005415.1	P35590	TIE1_HUMAN	tyrosine kinase with immunoglobulin-like and EGF-like domains 1	885	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				angiogenesis (GO:0001525)|in utero embryonic development (GO:0001701)|mesoderm development (GO:0007498)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell migration (GO:0030336)|peptidyl-tyrosine phosphorylation (GO:0018108)|plasma membrane fusion (GO:0045026)|response to retinoic acid (GO:0032526)|signal transduction (GO:0007165)|vasculogenesis (GO:0001570)	integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	70	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				CGTGACTTTGCGGGAGAACTG	0.502																																						ENST00000372476.3																			0				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	70						c.(2653-2655)gCg>gTg		tyrosine kinase with immunoglobulin-like and EGF-like domains 1							165	180	175					1																	43783268		2203	4300	6503	SO:0001583	missense	7075				mesoderm development	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity	g.chr1:43783268C>T	BC038239	CCDS482.1	1p34-p33	2013-02-11	2004-12-13	2004-12-14	ENSG00000066056	ENSG00000066056	2.7.10.1	"Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	11809	protein-coding gene	gene with protein product		600222	"tyrosine kinase with immunoglobulin and epidermal growth factor homology domains 1"	TIE		1312667	Standard	NM_005424		Approved	JTK14	uc001ciu.3	P35590	OTTHUMG00000007282	ENST00000372476.3:c.2654C>T	1.37:g.43783268C>T	ENSP00000361554:p.Ala885Val					TIE1_ENST00000473014.1_3'UTR|TIE1_ENST00000433781.2_Missense_Mutation_p.A530V	p.A885V	NM_001253357.1|NM_005424.4	NP_001240286.1|NP_005415.1	P35590	TIE1_HUMAN			16	2733	+	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)	885			Protein kinase.		B5A949|B5A950	Missense_Mutation	SNP	ENST00000372476.3	37	c.2654C>T	CCDS482.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.120241	0.77323	.	.	ENSG00000066056	ENST00000372476;ENST00000372475;ENST00000536913;ENST00000433781	D;D	0.82167	-1.58;-1.58	5.66	5.66	0.87406	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.39985	N	0.001216	T	0.67562	0.2906	L	0.28115	0.83	0.80722	D	1	D;P;D	0.58268	0.982;0.908;0.982	B;B;B	0.32928	0.155;0.055;0.155	T	0.72357	-0.4318	10	0.02654	T	1	.	19.7383	0.96217	0.0:1.0:0.0:0.0	.	840;530;885	B4DTW8;B4DKW0;P35590	.;.;TIE1_HUMAN	V	885;288;168;530	ENSP00000361554:A885V;ENSP00000411728:A530V	ENSP00000361553:A288V	A	+	2	0	TIE1	43555855	1.000000	0.71417	0.996000	0.52242	0.998000	0.95712	7.818000	0.86416	2.675000	0.91044	0.655000	0.94253	GCG		0.502	TIE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019011.1	NM_005424		6	209	0	0	0	1	0	6	209					T	43783268	C	T	43783268	3	4	364	1	0	0	0	0	1	0	0	0	15890	768	27	1	2716	1	TIE1	1	43783268	Missense_Mutation	SNP	C	TCGA-SU-A7E7-01A-22D-A33T-08	37103134	43783268	205467353	2	18162											
PTPN7	5778	broad.mit.edu	37	chr1	202127349	202127349	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaagtgtagggtgacctccCggggtgtgttcacagagcag	9	8	16	8	1	1	2	1	1	0	1	2	3	2	2	2	3	1	3	2	3	2	2			TCGA-SU-A7E7-01A-22D-A33T-08	TCGA-SU-A7E7-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0c3acfc-b0cc-41e0-833d-928662350c68	a31e4ea8-9af6-4430-845c-9eef051c1179	g.chr1:202127349C>T	ENST00000308986.5	-	3	333	c.203G>A	c.(202-204)cGg>cAg	p.R68Q	PTPN7_ENST00000492977.1_5'UTR|PTPN7_ENST00000367279.4_Missense_Mutation_p.R107Q|PTPN7_ENST00000544762.1_5'UTR|PTPN7_ENST00000309017.3_Missense_Mutation_p.R173Q|PTPN7_ENST00000543735.1_Intron			P35236	PTN7_HUMAN	protein tyrosine phosphatase, non-receptor type 7	68					peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)	protein tyrosine phosphatase activity (GO:0004725)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(2)|skin(1)|soft_tissue(1)|urinary_tract(1)	13						GGTGACCTCCCGGGGTGTGTT	0.632																																						ENST00000309017.3																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(2)|skin(1)|soft_tissue(1)|urinary_tract(1)	13						c.(517-519)cGg>cAg		protein tyrosine phosphatase, non-receptor type 7							59	60	60					1																	202127349		2203	4300	6503	SO:0001583	missense	5778					cytosol|internal side of plasma membrane	protein binding|protein tyrosine phosphatase activity	g.chr1:202127349C>T	BC001746	CCDS1422.1, CCDS1423.1, CCDS1423.2	1q32.1	2011-06-09			ENSG00000143851	ENSG00000143851		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"	9659	protein-coding gene	gene with protein product		176889				1510684	Standard	NM_002832		Approved	HEPTP, LC-PTP	uc010ppx.2	P35236	OTTHUMG00000035931	ENST00000308986.5:c.203G>A	1.37:g.202127349C>T	ENSP00000311133:p.Arg68Gln					PTPN7_ENST00000543735.1_Intron|PTPN7_ENST00000367279.4_Missense_Mutation_p.R107Q|PTPN7_ENST00000308986.5_Missense_Mutation_p.R68Q|PTPN7_ENST00000492977.1_5'UTR|PTPN7_ENST00000544762.1_5'UTR	p.R173Q	NM_001199797.1|NM_002832.3	NP_001186726.1|NP_002823.3	P35236	PTN7_HUMAN			3	1291	-			68			Tyrosine-protein phosphatase.		B3KXE1|Q53XK4|Q5SXQ0|Q5SXQ1|Q9BV05	Missense_Mutation	SNP	ENST00000308986.5	37	c.518G>A		.	.	.	.	.	.	.	.	.	.	C	15.45	2.836628	0.50951	.	.	ENSG00000143851	ENST00000367279;ENST00000309017;ENST00000308986;ENST00000477554;ENST00000476061;ENST00000467283;ENST00000464870;ENST00000486116;ENST00000492451	T;T;T;T;T;T;T;T;T	0.58652	3.62;3.54;3.66;3.55;2.58;0.99;1.01;0.32;0.33	5.03	4.1	0.47936	.	0.109437	0.41194	N	0.000932	T	0.45337	0.1337	L	0.52823	1.66	0.80722	D	1	P;B;B;P;P	0.47106	0.63;0.081;0.183;0.587;0.89	B;B;B;B;B	0.30401	0.061;0.009;0.014;0.037;0.115	T	0.46843	-0.9162	10	0.39692	T	0.17	.	12.6329	0.56667	0.0:0.917:0.0:0.083	.	142;16;20;68;107	B4DZD9;B4DVF0;Q8NFX3;P35236;P35236-2	.;.;.;PTN7_HUMAN;.	Q	107;173;68;149;67;68;68;68;68	ENSP00000356248:R107Q;ENSP00000309116:R173Q;ENSP00000311133:R68Q;ENSP00000418416:R149Q;ENSP00000419993:R67Q;ENSP00000418837:R68Q;ENSP00000420434:R68Q;ENSP00000417350:R68Q;ENSP00000417410:R68Q	ENSP00000311133:R68Q	R	-	2	0	PTPN7	200393972	0.993000	0.37304	0.994000	0.49952	0.550000	0.35303	2.450000	0.44943	1.071000	0.40834	0.462000	0.41574	CGG		0.632	PTPN7-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_002832		3	47	0	0	0	1	0	3	47					T	202127349	C	T	202127349	3	4	364	1	0	0	0	0	1	0	0	0	12793	652	23	2	911	2	PTPN7	1	202127349	Missense_Mutation	SNP	C	TCGA-SU-A7E7-01A-22D-A33T-08	158344081	202127349	47123272	3	18163											
DISP1	84976	broad.mit.edu	37	chr1	223116655	223116655	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttcagcatcagcctgtgcaaCagcacatagccaacataagg	14	7	8	12	0	2	0	2	0	0	0	2	0	2	0	2	1	7	3	2	1	4	3			TCGA-SU-A7E7-01A-22D-A33T-08	TCGA-SU-A7E7-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0c3acfc-b0cc-41e0-833d-928662350c68	a31e4ea8-9af6-4430-845c-9eef051c1179	g.chr1:223116655C>A	ENST00000284476.6	+	2	654	c.490C>A	c.(490-492)Cag>Aag	p.Q164K	DISP1_ENST00000360254.2_Missense_Mutation_p.Q164K|DISP1_ENST00000495684.1_Intron	NM_032890.3	NP_116279.2	Q96F81	DISP1_HUMAN	dispatched homolog 1 (Drosophila)	164					determination of left/right symmetry (GO:0007368)|diaphragm development (GO:0060539)|dorsal/ventral pattern formation (GO:0009953)|embryonic pattern specification (GO:0009880)|patched ligand maturation (GO:0007225)|peptide transport (GO:0015833)|protein homotrimerization (GO:0070207)|regulation of protein secretion (GO:0050708)|smoothened signaling pathway (GO:0007224)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)	hedgehog receptor activity (GO:0008158)|peptide transporter activity (GO:0015197)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(20)|lung(25)|prostate(4)|skin(1)|stomach(1)|urinary_tract(5)	69				GBM - Glioblastoma multiforme(131;0.102)		GCCTGTGCAACAGCACATAGC	0.458																																						ENST00000284476.6																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(20)|lung(25)|prostate(4)|skin(1)|stomach(1)|urinary_tract(5)	69						c.(490-492)Cag>Aag		dispatched homolog 1 (Drosophila)							118	93	101					1																	223116655		2203	4300	6503	SO:0001583	missense	84976				diaphragm development|protein homotrimerization|regulation of protein secretion|smoothened signaling pathway	basolateral plasma membrane|integral to membrane	hedgehog receptor activity|peptide transporter activity	g.chr1:223116655C>A	AK056569	CCDS1536.1	1q42.12	2008-02-05			ENSG00000154309	ENSG00000154309			19711	protein-coding gene	gene with protein product		607502				10619433	Standard	NM_032890		Approved	DISPA, MGC13130, DKFZP434I0428, MGC16796	uc001hnu.2	Q96F81	OTTHUMG00000037893	ENST00000284476.6:c.490C>A	1.37:g.223116655C>A	ENSP00000284476:p.Gln164Lys					DISP1_ENST00000360254.2_Missense_Mutation_p.Q164K|DISP1_ENST00000495684.1_Intron	p.Q164K	NM_032890.3	NP_116279.2	Q96F81	DISP1_HUMAN		GBM - Glioblastoma multiforme(131;0.102)	2	654	+			164					Q8N7C2|Q96I92|Q9H698|Q9H8H9|Q9UFA2	Missense_Mutation	SNP	ENST00000284476.6	37	c.490C>A	CCDS1536.1	.	.	.	.	.	.	.	.	.	.	C	13.48	2.250013	0.39797	.	.	ENSG00000154309	ENST00000360254;ENST00000284476	T;D	0.91894	0.74;-2.93	5.5	5.5	0.81552	.	0.307430	0.32231	N	0.006384	D	0.88771	0.6527	L	0.38838	1.175	0.39456	D	0.967485	B	0.09022	0.002	B	0.06405	0.002	D	0.84060	0.0374	10	0.30854	T	0.27	-18.2636	19.3812	0.94536	0.0:1.0:0.0:0.0	.	164	Q96F81	DISP1_HUMAN	K	164	ENSP00000355848:Q164K;ENSP00000284476:Q164K	ENSP00000284476:Q164K	Q	+	1	0	DISP1	221183278	1.000000	0.71417	0.953000	0.39169	0.983000	0.72400	5.629000	0.67798	2.579000	0.87056	0.603000	0.83216	CAG		0.458	DISP1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092512.1	NM_032890		10	87	1	0	7.48243e-07	1	8.02992e-07	10	87					A	223116655	C	A	223116655	3	1	364	1	0	0	0	0	1	0	0	0	4539	479	17	5	492	5	DISP1	1	223116655	Missense_Mutation	SNP	C	TCGA-SU-A7E7-01A-22D-A33T-08	20989306	223116655	26133966	4	18164											
TTN	7273	broad.mit.edu	37	chr2	179480436	179480436	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagggccacatttgttacgaGcacaaactttaaataagtac	15	10	7	9	1	0	0	0	0	0	0	0	1	0	0	1	1	4	3	1	1	6	6			TCGA-SU-A7E7-01A-22D-A33T-08	TCGA-SU-A7E7-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0c3acfc-b0cc-41e0-833d-928662350c68	a31e4ea8-9af6-4430-845c-9eef051c1179	g.chr2:179480436G>T	ENST00000591111.1	-	208	43693	c.43469C>A	c.(43468-43470)gCt>gAt	p.A14490D	TTN_ENST00000342992.6_Missense_Mutation_p.A13563D|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.A7191D|RP11-171I2.4_ENST00000605334.1_lincRNA|TTN_ENST00000342175.6_Missense_Mutation_p.A7258D|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.A7066D|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.A16131D			Q8WZ42	TITIN_HUMAN	titin	14490	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTTGTTACGAGCACAAACTTT	0.373																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(48391-48393)gCt>gAt		titin							178	167	171					2																	179480436		1892	4109	6001	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179480436G>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.43469C>A	2.37:g.179480436G>T	ENSP00000465570:p.Ala14490Asp					TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.A7191D|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.A13563D|TTN_ENST00000591111.1_Missense_Mutation_p.A14490D|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.A7258D|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.A7066D	p.A16131D	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		258	48616	-			14490			Fibronectin type-III 17.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.48392C>A		.	.	.	.	.	.	.	.	.	.	G	15.58	2.876685	0.51801	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.69806	-0.43;-0.43;-0.43;-0.43	5.76	5.76	0.90799	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.90769	0.7102	H	0.99454	4.575	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.999;0.999	D	0.94378	0.7602	9	0.87932	D	0	.	19.9601	0.97247	0.0:0.0:1.0:0.0	.	7066;7191;7258;14490	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	D	13563;7066;7258;7191;7066	ENSP00000343764:A13563D;ENSP00000434586:A7066D;ENSP00000340554:A7258D;ENSP00000352154:A7191D	ENSP00000340554:A7258D	A	-	2	0	TTN	179188681	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.696000	0.98695	2.720000	0.93068	0.655000	0.94253	GCT		0.373	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		13	83	1	0	4.3838e-07	1	4.82218e-07	13	83					T	179480436	G	T	179480436	3	4	364	1	0	0	0	0	1	0	0	0	16732	971	34	5	59721	5	TTN	2	179480436	Missense_Mutation	SNP	G	TCGA-SU-A7E7-01A-22D-A33T-08		179480436	63718937	5	18165											
F11	2160	broad.mit.edu	37	chr4	187201675	187201675	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aaacggatctccaactaaaaTacttcacgggagaggaggca	16	6	10	9	2	2	1	1	0	1	1	3	4	2	3	1	4	3	1	1	4	5	3			TCGA-SU-A7E7-01A-22D-A33T-08	TCGA-SU-A7E7-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0c3acfc-b0cc-41e0-833d-928662350c68	a31e4ea8-9af6-4430-845c-9eef051c1179	g.chr4:187201675T>C	ENST00000403665.2	+	10	1428	c.1076T>C	c.(1075-1077)aTa>aCa	p.I359T	F11_ENST00000264692.4_Missense_Mutation_p.I307T	NM_000128.3	NP_000119.1	P03951	FA11_HUMAN	coagulation factor XI	359	Apple 4. {ECO:0000255|PROSITE- ProRule:PRU00315}.				blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|plasminogen activation (GO:0031639)|positive regulation of fibrinolysis (GO:0051919)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|serine-type aminopeptidase activity (GO:0070009)|serine-type endopeptidase activity (GO:0004252)			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(15)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	32		all_cancers(14;6.2e-52)|all_epithelial(14;1.62e-38)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Colorectal(36;0.0161)|all_neural(102;0.202)		OV - Ovarian serous cystadenocarcinoma(60;2.13e-11)|BRCA - Breast invasive adenocarcinoma(30;4.59e-06)|GBM - Glioblastoma multiforme(59;0.000149)|STAD - Stomach adenocarcinoma(60;0.000314)|LUSC - Lung squamous cell carcinoma(40;0.00112)|READ - Rectum adenocarcinoma(43;0.176)	Coagulation Factor IX(DB00100)	CCAACTAAAATACTTCACGGG	0.398																																						ENST00000264692.4																			0				NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(15)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	32						c.(919-921)aTa>aCa		coagulation factor XI	Coagulation Factor IX(DB00100)						106	99	102					4																	187201675		2203	4300	6503	SO:0001583	missense	2160				blood coagulation, intrinsic pathway|plasminogen activation|positive regulation of fibrinolysis	extracellular space|plasma membrane	heparin binding|serine-type endopeptidase activity	g.chr4:187201675T>C	M13142	CCDS3847.1	4q35	2008-08-01	2008-08-01		ENSG00000088926	ENSG00000088926	3.4.21.27		3529	protein-coding gene	gene with protein product	"plasma thromboplastin antecedent"	264900					Standard	NM_000128		Approved	FXI	uc003iza.1	P03951	OTTHUMG00000150311	ENST00000403665.2:c.1076T>C	4.37:g.187201675T>C	ENSP00000384957:p.Ile359Thr					F11_ENST00000403665.2_Missense_Mutation_p.I359T	p.I307T			P03951	FA11_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;2.13e-11)|BRCA - Breast invasive adenocarcinoma(30;4.59e-06)|GBM - Glioblastoma multiforme(59;0.000149)|STAD - Stomach adenocarcinoma(60;0.000314)|LUSC - Lung squamous cell carcinoma(40;0.00112)|READ - Rectum adenocarcinoma(43;0.176)	10	1253	+		all_cancers(14;6.2e-52)|all_epithelial(14;1.62e-38)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Colorectal(36;0.0161)|all_neural(102;0.202)	359			Apple 4.		D3DP64|Q4W5C2|Q9Y495	Missense_Mutation	SNP	ENST00000403665.2	37	c.920T>C	CCDS3847.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	16.03|16.03	3.005796|3.005796	0.54254|0.54254	.|.	.|.	ENSG00000088926|ENSG00000088926	ENST00000403665;ENST00000264692|ENST00000452239	D;D|.	0.89415|.	-2.5;-2.51|.	5.59|5.59	5.59|5.59	0.84812|0.84812	Apple domain (2);PAN-1 domain (1);Apple-like (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.83133|0.83133	0.5188|0.5188	M|M	0.88241|0.88241	2.94|2.94	0.50313|0.50313	D|D	0.999862|0.999862	D|.	0.63046|.	0.992|.	D|.	0.66497|.	0.944|.	D|D	0.85992|0.85992	0.1489|0.1489	10|5	0.54805|.	T|.	0.06|.	.|.	16.0668|16.0668	0.80887|0.80887	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	359|.	P03951|.	FA11_HUMAN|.	T|H	359;307|175	ENSP00000384957:I359T;ENSP00000264692:I307T|.	ENSP00000264692:I307T|.	I|Y	+|+	2|1	0|0	F11|F11	187438669|187438669	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.263000|0.263000	0.26337|0.26337	3.613000|3.613000	0.54152|0.54152	2.246000|2.246000	0.74042|0.74042	0.533000|0.533000	0.62120|0.62120	ATA|TAC		0.398	F11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317519.4			11	50	0	0	0	1	0	11	50					C	187201675	T	C	187201675	3	2	364	1	0	0	0	0	1	0	0	0	5337	1406	49	4	1110	4	F11	4	187201675	Missense_Mutation	SNP	T	TCGA-SU-A7E7-01A-22D-A33T-08		187201675	3952601	6	18166											
C5orf22	55322	broad.mit.edu	37	chr5	31534435	31534435	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	catcttcctgccagtaatgtAagttttttacatttcgactc	9	17	5	10	1	1	0	0	0	1	0	4	1	2	0	2	0	2	3	2	0	3	7			TCGA-SU-A7E7-01A-22D-A33T-08	TCGA-SU-A7E7-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0c3acfc-b0cc-41e0-833d-928662350c68	a31e4ea8-9af6-4430-845c-9eef051c1179	g.chr5:31534435A>T	ENST00000325366.9	+	2	265	c.138A>T	c.(136-138)gtA>gtT	p.V46V	DROSHA_ENST00000511367.2_5'Flank|DROSHA_ENST00000504361.1_5'Flank|DROSHA_ENST00000513349.1_5'Flank|C5orf22_ENST00000355907.3_De_novo_Start_OutOfFrame	NM_018356.2	NP_060826.2	Q49AR2	CE022_HUMAN	chromosome 5 open reading frame 22	46										kidney(3)|large_intestine(2)|lung(10)|ovary(2)|skin(1)	18						CCAGTAATGTAAGTTTTTTAC	0.408																																						ENST00000355907.3																			0				kidney(3)|large_intestine(2)|lung(10)|ovary(2)|skin(1)	18								chromosome 5 open reading frame 22							168	155	159					5																	31534435		2203	4300	6503	SO:0001819	synonymous_variant	55322							g.chr5:31534435A>T	AK002055	CCDS3895.1	5p13.3	2012-02-22			ENSG00000082213	ENSG00000082213			25639	protein-coding gene	gene with protein product							Standard	NM_018356		Approved	FLJ11193	uc003jhj.4	Q49AR2	OTTHUMG00000131067	ENST00000325366.9:c.138A>T	5.37:g.31534435A>T						C5orf22_ENST00000325366.9_Silent_p.V46V				Q49AR2	CE022_HUMAN			0	265	+								Q8ND28|Q8WU61|Q9NUR1	Translation_Start_Site	SNP	ENST00000325366.9	37		CCDS3895.1																																																																																				0.408	C5orf22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253726.2	NM_018356		27	127	0	0	0	1	0	27	127					T	31534435	A	T	31534435	2	4	364	1	0	0	0	0	0	0	0	1	2285	349	13	5		5	C5orf22	5	31534435	Silent	SNP	A	TCGA-SU-A7E7-01A-22D-A33T-08		31534435	149380825	7	18167											
ZNF608	57507	broad.mit.edu	37	chr5	124036776	124036776	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggttcacagggcccaagacActctggctctgtcactactc	9	9	9	14	0	4	1	2	0	2	1	5	1	4	1	1	3	1	2	1	3	2	2	rs558119594		TCGA-SU-A7E7-01A-22D-A33T-08	TCGA-SU-A7E7-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0c3acfc-b0cc-41e0-833d-928662350c68	a31e4ea8-9af6-4430-845c-9eef051c1179	g.chr5:124036776A>T	ENST00000306315.5	-	2	1528	c.1093T>A	c.(1093-1095)Tgt>Agt	p.C365S	ZNF608_ENST00000504926.1_5'UTR	NM_020747.2	NP_065798.2	Q9ULD9	ZN608_HUMAN	zinc finger protein 608	365							metal ion binding (GO:0046872)			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(12)|ovary(3)|skin(6)|urinary_tract(1)	46		all_cancers(142;0.186)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783)		GGCCCAAGACACTCTGGCTCT	0.443																																						ENST00000306315.5																			0				breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(12)|ovary(3)|skin(6)|urinary_tract(1)	46						c.(1093-1095)Tgt>Agt		zinc finger protein 608							114	107	109					5																	124036776		2203	4300	6503	SO:0001583	missense	57507					intracellular	zinc ion binding	g.chr5:124036776A>T	AB033107	CCDS34219.1	5q23.2	2008-05-02			ENSG00000168916	ENSG00000168916		"Zinc fingers, C2H2-type"	29238	protein-coding gene	gene with protein product						10574462, 10508479	Standard	NM_020747		Approved	KIAA1281, DKFZp434M098, NY-REN-36	uc003ktq.1	Q9ULD9	OTTHUMG00000162999	ENST00000306315.5:c.1093T>A	5.37:g.124036776A>T	ENSP00000307746:p.Cys365Ser					ZNF608_ENST00000504926.1_5'UTR	p.C365S	NM_020747.2	NP_065798.2	Q9ULD9	ZN608_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783)	2	1528	-		all_cancers(142;0.186)|Prostate(80;0.081)	365					A7E2W9|Q3SYM6|Q68D12|Q8IY05|Q9Y5A1	Missense_Mutation	SNP	ENST00000306315.5	37	c.1093T>A	CCDS34219.1	.	.	.	.	.	.	.	.	.	.	A	27.7	4.857084	0.91433	.	.	ENSG00000168916	ENST00000306315;ENST00000509799;ENST00000513986	T	0.54071	0.59	5.93	5.93	0.95920	.	0.060137	0.64402	D	0.000002	T	0.68988	0.3061	L	0.53249	1.67	0.58432	D	0.999999	D	0.89917	1.0	D	0.85130	0.997	T	0.69760	-0.5058	10	0.54805	T	0.06	-12.3798	16.3943	0.83563	1.0:0.0:0.0:0.0	.	365	Q9ULD9	ZN608_HUMAN	S	365	ENSP00000307746:C365S	ENSP00000307746:C365S	C	-	1	0	ZNF608	124064675	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.932000	0.92897	2.281000	0.76405	0.533000	0.62120	TGT		0.443	ZNF608-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371300.1	XM_114432		9	73	0	0	0	1	0	9	73					T	124036776	A	T	124036776	3	4	364	1	0	0	0	0	1	0	0	0	18031	159	6	5	3477	5	ZNF608	5	124036776	Missense_Mutation	SNP	A	TCGA-SU-A7E7-01A-22D-A33T-08	92502341	124036776	56878484	8	18168											
KIAA0141	9812	broad.mit.edu	37	chr5	141309245	141309245	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	aggaagaagcctcagctcagCcccggaacttctcacacaac	13	5	8	15	1	3	1	3	0	1	1	4	3	3	3	3	2	5	1	3	2	4	1			TCGA-SU-A7E7-01A-22D-A33T-08	TCGA-SU-A7E7-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0c3acfc-b0cc-41e0-833d-928662350c68	a31e4ea8-9af6-4430-845c-9eef051c1179	g.chr5:141309245C>T	ENST00000432126.2	+	5	645	c.511C>T	c.(511-513)Ccc>Tcc	p.P171S	KIAA0141_ENST00000194118.4_Missense_Mutation_p.P171S	NM_001142603.1|NM_014773.3	NP_001136075.1|NP_055588.3	Q14154	DELE_HUMAN	KIAA0141	171					extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)	mitochondrion (GO:0005739)				endometrium(3)|large_intestine(4)|lung(5)|skin(1)|urinary_tract(3)	16		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTCAGCTCAGCCCCGGAACTT	0.617																																						ENST00000432126.2																			0				endometrium(3)|large_intestine(4)|lung(5)|skin(1)|urinary_tract(3)	16						c.(511-513)Ccc>Tcc		KIAA0141							64	62	63					5																	141309245		2203	4300	6503	SO:0001583	missense	9812				apoptosis|regulation of caspase activity	mitochondrion	protein binding	g.chr5:141309245C>T	BC011269	CCDS4268.1	5q31	2011-05-05			ENSG00000081791	ENSG00000081791			28969	protein-coding gene	gene with protein product	"death ligand signal enhancer"	615741				20563667	Standard	XM_005268549		Approved	DELE	uc003llt.3	Q14154	OTTHUMG00000129662	ENST00000432126.2:c.511C>T	5.37:g.141309245C>T	ENSP00000396225:p.Pro171Ser					KIAA0141_ENST00000194118.4_Missense_Mutation_p.P171S	p.P171S	NM_001142603.1|NM_014773.3	NP_001136075.1|NP_055588.3	Q14154	DELE_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		5	645	+		all_hematologic(541;0.118)	171					Q969R4|Q96EU9	Missense_Mutation	SNP	ENST00000432126.2	37	c.511C>T	CCDS4268.1	.	.	.	.	.	.	.	.	.	.	C	13.95	2.390684	0.42410	.	.	ENSG00000081791	ENST00000432126;ENST00000194118;ENST00000508751	T;T;T	0.18810	2.73;2.73;2.19	4.84	-0.122	0.13531	.	0.862397	0.10228	N	0.700017	T	0.13841	0.0335	L	0.39633	1.23	0.09310	N	1	B	0.12013	0.005	B	0.06405	0.002	T	0.35871	-0.9771	10	0.22109	T	0.4	-2.5812	4.3425	0.11117	0.0:0.4669:0.1644:0.3687	.	171	Q14154	DELE_HUMAN	S	171	ENSP00000396225:P171S;ENSP00000194118:P171S;ENSP00000422686:P171S	ENSP00000194118:P171S	P	+	1	0	KIAA0141	141289429	0.000000	0.05858	0.000000	0.03702	0.930000	0.56654	-0.342000	0.07801	-0.227000	0.09884	0.305000	0.20034	CCC		0.617	KIAA0141-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251863.2	NM_014773		4	57	0	0	0	1	0	4	57					T	141309245	C	T	141309245	3	4	364	1	0	0	0	0	1	0	0	0	8156	739	26	3	529	3	KIAA0141	5	141309245	Missense_Mutation	SNP	C	TCGA-SU-A7E7-01A-22D-A33T-08	17272469	141309245	39606015	9	18169											
FAT2	2196	broad.mit.edu	37	chr5	150908750	150908750	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatccttaccgtgaggatgaCgtcacccacaagggcattct	10	9	10	12	2	2	2	1	2	1	0	3	4	3	3	3	2	1	1	3	2	2	2	rs114070271	byFrequency	TCGA-SU-A7E7-01A-22D-A33T-08	TCGA-SU-A7E7-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0c3acfc-b0cc-41e0-833d-928662350c68	a31e4ea8-9af6-4430-845c-9eef051c1179	g.chr5:150908750C>T	ENST00000261800.5	-	14	10027	c.10015G>A	c.(10015-10017)Gtc>Atc	p.V3339I		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	3339	Cadherin 30. {ECO:0000255|PROSITE- ProRule:PRU00043}.				epithelial cell migration (GO:0010631)|homophilic cell adhesion (GO:0007156)	cell-cell adherens junction (GO:0005913)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GTGAGGATGACGTCACCCACA	0.517													C|||	5	0.000998403	0.0038	0	5008	,	,		21650	0		0	False		,,,				2504	0					ENST00000261800.5																			0				NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196						c.(10015-10017)Gtc>Atc		FAT atypical cadherin 2		C	ILE/VAL	27,4379	34.3+/-65.2	0,27,2176	101	95	97		10015	-1.1	0	5	dbSNP_132	97	0,8600		0,0,4300	yes	missense	FAT2	NM_001447.2	29	0,27,6476	TT,TC,CC		0.0,0.6128,0.2076	benign	3339/4350	150908750	27,12979	2203	4300	6503	SO:0001583	missense	2196				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding	g.chr5:150908750C>T	AF231022	CCDS4317.1	5q33.1	2014-07-21	2013-05-31		ENSG00000086570	ENSG00000086570		"Cadherins / Cadherin-related"	3596	protein-coding gene	gene with protein product	"cadherin-related family member 9"	604269	"FAT tumor suppressor (Drosophila) homolog 2", "FAT tumor suppressor homolog 2 (Drosophila)"			9693030	Standard	NM_001447		Approved	MEGF1, CDHF8, HFAT2, CDHR9	uc003lue.4	Q9NYQ8	OTTHUMG00000130126	ENST00000261800.5:c.10015G>A	5.37:g.150908750C>T	ENSP00000261800:p.Val3339Ile						p.V3339I	NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		14	10027	-		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	3339			Cadherin 30.		O75091|Q9NSR7	Missense_Mutation	SNP	ENST00000261800.5	37	c.10015G>A	CCDS4317.1	2|2	9.157509157509158E-4|9.157509157509158E-4	2|2	0.0040650406504065045|0.0040650406504065045	0|0	0.0|0.0	0|0	0.0|0.0	0|0	0.0|0.0	C|C	2.164|2.164	-0.391589|-0.391589	0.04932|0.04932	0.006128|0.006128	0.0|0.0	ENSG00000086570|ENSG00000086570	ENST00000520200|ENST00000261800	.|T	.|0.51817	.|0.69	5.78|5.78	-1.14|-1.14	0.09741|0.09741	.|Cadherin (3);Cadherin-like (1);	.|1.322540	.|0.04863	.|N	.|0.444558	T|T	0.20373|0.20373	0.0490|0.0490	N|N	0.13235|0.13235	0.315|0.315	0.09310|0.09310	N|N	1|1	.|B;B	.|0.12630	.|0.006;0.002	.|B;B	.|0.08055	.|0.003;0.002	T|T	0.10382|0.10382	-1.0632|-1.0632	5|10	.|0.32370	.|T	.|0.25	.|.	3.8757|3.8757	0.09056|0.09056	0.127:0.1291:0.1269:0.617|0.127:0.1291:0.1269:0.617	.|.	.|3339;530	.|Q9NYQ8;E9PDJ8	.|FAT2_HUMAN;.	H|I	197|3339	.|ENSP00000261800:V3339I	.|ENSP00000261800:V3339I	R|V	-|-	2|1	0|0	FAT2|FAT2	150888943|150888943	0.000000|0.000000	0.05858|0.05858	0.001000|0.001000	0.08648|0.08648	0.100000|0.100000	0.18952|0.18952	-0.166000|-0.166000	0.09954|0.09954	-0.445000|-0.445000	0.07159|0.07159	-0.158000|-0.158000	0.13435|0.13435	CGT|GTC		0.517	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252434.1	NM_001447		18	66	0	0	0	1	0	18	66					T	150908750	C	T	150908750	3	4	364	1	0	0	0	0	1	0	0	0	5690	536	19	1	3074	1	FAT2	5	150908750	Missense_Mutation	SNP	C	TCGA-SU-A7E7-01A-22D-A33T-08	9599505	150908750	30006510	10	18170											
HSP90AB1	3326	broad.mit.edu	37	chr6	44216408	44216409	+	Frame_Shift_Del	DEL	TT	TT	-																															ggagaggaggaggtggagacTtttgcctttcaggcagaaat																										TCGA-SU-A7E7-01A-22D-A33T-08	TCGA-SU-A7E7-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0c3acfc-b0cc-41e0-833d-928662350c68	a31e4ea8-9af6-4430-845c-9eef051c1179	g.chr6:44216408_44216409delTT	ENST00000371554.1	+	2	256_257	c.42_43delTT	c.(40-45)acttttfs	p.F15fs	HSP90AB1_ENST00000353801.3_Frame_Shift_Del_p.F15fs|HSP90AB1_ENST00000371646.5_Frame_Shift_Del_p.F15fs			P08238	HS90B_HUMAN	heat shock protein 90kDa alpha (cytosolic), class B member 1	15					axon guidance (GO:0007411)|cellular response to interleukin-4 (GO:0071353)|cellular response to organic cyclic compound (GO:0071407)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|placenta development (GO:0001890)|positive regulation of cell size (GO:0045793)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of protein binding (GO:0032092)|positive regulation of protein import into nucleus, translocation (GO:0033160)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|protein folding (GO:0006457)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to salt stress (GO:0009651)|response to unfolded protein (GO:0006986)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|inclusion body (GO:0016234)|membrane (GO:0016020)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|CTP binding (GO:0002135)|dATP binding (GO:0032564)|double-stranded RNA binding (GO:0003725)|GTP binding (GO:0005525)|MHC class II protein complex binding (GO:0023026)|nitric-oxide synthase regulator activity (GO:0030235)|poly(A) RNA binding (GO:0044822)|TPR domain binding (GO:0030911)|UTP binding (GO:0002134)			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(12)|prostate(2)|skin(2)|urinary_tract(2)	33	all_cancers(18;1.7e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			AGGTGGAGACTTTTGCCTTTCA	0.411																																						ENST00000371554.1																			0				NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(12)|prostate(2)|skin(2)|urinary_tract(2)	33						c.(40-45)acttfs		heat shock protein 90kDa alpha (cytosolic), class B member 1																																				SO:0001589	frameshift_variant	3326				axon guidance|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of nitric oxide biosynthetic process|protein folding|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to unfolded protein	cytosol|melanosome	ATP binding|nitric-oxide synthase regulator activity|TPR domain binding|unfolded protein binding	g.chr6:44216408_44216409delTT	AF275719	CCDS4909.1	6p12	2011-09-02	2006-02-24	2006-02-24	ENSG00000096384	ENSG00000096384		"Heat shock proteins / HSPC"	5258	protein-coding gene	gene with protein product		140572	"heat shock 90kD protein 1, beta", "heat shock 90kDa protein 1, beta"	HSPC2, HSPCB		2768249, 16269234	Standard	NM_001271969		Approved		uc031sor.1	P08238	OTTHUMG00000014761	ENST00000371554.1:c.42_43delTT	6.37:g.44216410_44216411delTT	ENSP00000360609:p.Phe15fs					HSP90AB1_ENST00000371646.5_Frame_Shift_Del_p.TF14fs|HSP90AB1_ENST00000353801.3_Frame_Shift_Del_p.TF14fs	p.TF14fs			P08238	HS90B_HUMAN	Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		2	256_257	+	all_cancers(18;1.7e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		14					B2R5P0|Q5T9W7|Q9NQW0|Q9NTK6	Frame_Shift_Del	DEL	ENST00000371554.1	37	c.42_43delTT	CCDS4909.1																																																																																				0.411	HSP90AB1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040730.1	NM_007355		11	115						11	115	---	---	---	---	-	44216409	TT	-	44216408	7	5	364	1	0	1	0	1	0	0	0	0	7402	1596	56	0	44	0	HSP90AB1	6	44216408	Frame_Shift_Del	DEL	TT	TCGA-SU-A7E7-01A-22D-A33T-08		44216408	126898659	11	18171											
TOX	9760	broad.mit.edu	37	chr8	59728152	59728152	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gttaggtgaggattcattccCggttgttggtgatagtggga	7	14	16	4	1	1	2	1	2	0	0	2	4	2	4	1	5	0	3	1	5	2	6			TCGA-SU-A7E7-01A-22D-A33T-08	TCGA-SU-A7E7-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0c3acfc-b0cc-41e0-833d-928662350c68	a31e4ea8-9af6-4430-845c-9eef051c1179	g.chr8:59728152C>T	ENST00000361421.1	-	7	1357	c.1137G>A	c.(1135-1137)ccG>ccA	p.P379P	RNU4-50P_ENST00000364361.1_RNA	NM_014729.2	NP_055544.1	O94900	TOX_HUMAN	thymocyte selection-associated high mobility group box	379						nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(13)|prostate(1)|skin(2)|stomach(1)	33		all_cancers(86;0.165)|Myeloproliferative disorder(644;0.00452)|all_lung(136;0.036)|Lung NSC(129;0.0464)|all_epithelial(80;0.0607)				GATTCATTCCCGGTTGTTGGT	0.537																																					Pancreas(161;610 1969 17913 21374 22725)	ENST00000361421.1																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(13)|prostate(1)|skin(2)|stomach(1)	33						c.(1135-1137)ccG>ccA		thymocyte selection-associated high mobility group box							161	149	153					8																	59728152		2203	4300	6503	SO:0001819	synonymous_variant	9760					nucleus	DNA binding	g.chr8:59728152C>T		CCDS34897.1	8q12.2-q12.3	2009-04-17			ENSG00000198846	ENSG00000198846			18988	protein-coding gene	gene with protein product		606863				9872452, 11850626	Standard	NM_014729		Approved	KIAA0808, TOX1	uc003xtw.1	O94900	OTTHUMG00000164331	ENST00000361421.1:c.1137G>A	8.37:g.59728152C>T							p.P379P	NM_014729.2	NP_055544.1	O94900	TOX_HUMAN			7	1357	-		all_cancers(86;0.165)|Myeloproliferative disorder(644;0.00452)|all_lung(136;0.036)|Lung NSC(129;0.0464)|all_epithelial(80;0.0607)	379					Q96AV5	Silent	SNP	ENST00000361421.1	37	c.1137G>A	CCDS34897.1																																																																																				0.537	TOX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378307.1	NM_014729		4	59	0	0	0	1	0	4	59					T	59728152	C	T	59728152	2	4	364	1	0	0	0	0	0	0	0	1	16374	639	23	2		2	TOX	8	59728152	Silent	SNP	C	TCGA-SU-A7E7-01A-22D-A33T-08		59728152	86635870	12	18172											
CA8	767	broad.mit.edu	37	chr8	61137094	61137094	+	Splice_Site	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgcaatcaggtaaatactcAcctggtaataaagtgttagg	15	11	9	6	0	2	0	2	0	0	0	2	0	2	0	1	3	2	4	1	3	8	5			TCGA-SU-A7E7-01A-22D-A33T-08	TCGA-SU-A7E7-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0c3acfc-b0cc-41e0-833d-928662350c68	a31e4ea8-9af6-4430-845c-9eef051c1179	g.chr8:61137094A>C	ENST00000317995.4	-	6	890		c.e6+1		CA8_ENST00000528666.1_Splice_Site	NM_004056.4	NP_004047.3	P35219	CAH8_HUMAN	carbonic anhydrase VIII						one-carbon metabolic process (GO:0006730)|phosphatidylinositol-mediated signaling (GO:0048015)	cytoplasm (GO:0005737)	carbonate dehydratase activity (GO:0004089)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(5)|lung(6)|prostate(2)|skin(1)	16		all_cancers(86;0.172)|all_epithelial(80;0.0383)|all_lung(136;0.0413)|Lung NSC(129;0.0474)			Zonisamide(DB00909)	GTAAATACTCACCTGGTAATA	0.269																																						ENST00000317995.4																			0				endometrium(2)|large_intestine(5)|lung(6)|prostate(2)|skin(1)	16						c.e6+1		carbonic anhydrase VIII							81	91	88					8																	61137094		2203	4297	6500	SO:0001630	splice_region_variant	767				one-carbon metabolic process		carbonate dehydratase activity|zinc ion binding	g.chr8:61137094A>C	L04656	CCDS6174.1	8q12.1	2012-08-21			ENSG00000178538	ENSG00000178538		"Carbonic anhydrases"	1382	protein-coding gene	gene with protein product		114815		CALS		17219437	Standard	NM_004056		Approved	CARP	uc003xtz.1	P35219	OTTHUMG00000165325	ENST00000317995.4:c.625+1T>G	8.37:g.61137094A>C						CA8_ENST00000528666.1_Splice_Site		NM_004056.4	NP_004047.3	P35219	CAH8_HUMAN			6	890	-		all_cancers(86;0.172)|all_epithelial(80;0.0383)|all_lung(136;0.0413)|Lung NSC(129;0.0474)						A8K0A5|B3KQZ7|Q32MY2	Splice_Site	SNP	ENST00000317995.4	37		CCDS6174.1	.	.	.	.	.	.	.	.	.	.	A	20.9	4.073005	0.76415	.	.	ENSG00000178538	ENST00000317995	.	.	.	6.03	6.03	0.97812	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.5582	0.84512	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CA8	61299648	1.000000	0.71417	0.986000	0.45419	0.803000	0.45373	8.491000	0.90468	2.308000	0.77769	0.533000	0.62120	.		0.269	CA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383445.1		Intron	11	101	0	0	0	1	0	11	101					C	61137094	A	C	61137094	5	2	364	1	0	0	0	0	0	0	1	0	2523	173	6	5	257	5	CA8	8	61137094	Splice_Site	SNP	A	TCGA-SU-A7E7-01A-22D-A33T-08	1408942	61137094	85226928	13	18173											
C9orf68	55064	broad.mit.edu	37	chr9	4604231	4604231	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcttcagagggtagcttggTctttcaatgatataatttac	10	17	8	6	0	4	2	2	1	2	1	4	2	4	2	0	2	2	2	0	2	5	9			TCGA-SU-A7E7-01A-22D-A33T-08	TCGA-SU-A7E7-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0c3acfc-b0cc-41e0-833d-928662350c68	a31e4ea8-9af6-4430-845c-9eef051c1179	g.chr9:4604231T>G	ENST00000454239.2	-	12	1373	c.1128A>C	c.(1126-1128)agA>agC	p.R376S	SPATA6L_ENST00000475086.1_Missense_Mutation_p.R318S|SPATA6L_ENST00000381895.5_Missense_Mutation_p.R253S|SPATA6L_ENST00000381890.5_Intron			Q8N4H0	SPA6L_HUMAN	spermatogenesis associated 6-like	376																	GGTAGCTTGGTCTTTCAATGA	0.348																																						ENST00000454239.2																			0											c.(1126-1128)agA>agC		spermatogenesis associated 6-like							136	128	131					9																	4604231		1813	4084	5897	SO:0001583	missense	55064							g.chr9:4604231T>G	AK000920	CCDS43785.1, CCDS43785.2	9p24.2	2012-03-15	2012-03-15	2012-03-15	ENSG00000106686	ENSG00000106686			25472	protein-coding gene	gene with protein product			"chromosome 9 open reading frame 68"	C9orf68			Standard	NM_001039395		Approved	FLJ10058	uc011llz.2	Q8N4H0	OTTHUMG00000019469	ENST00000454239.2:c.1128A>C	9.37:g.4604231T>G	ENSP00000404277:p.Arg376Ser					SPATA6L_ENST00000381895.5_Missense_Mutation_p.R253S|SPATA6L_ENST00000381890.5_Intron|SPATA6L_ENST00000475086.1_Missense_Mutation_p.R318S	p.R376S			B4DIY4	B4DIY4_HUMAN			12	1373	-			318					B4DIY4|Q5JVJ5|Q8IY90	Missense_Mutation	SNP	ENST00000454239.2	37	c.1128A>C		.	.	.	.	.	.	.	.	.	.	T	5.619	0.298892	0.10622	.	.	ENSG00000106686	ENST00000454239;ENST00000475086;ENST00000381895	T;T;T	0.52983	1.07;0.85;0.64	4.99	-0.198	0.13224	.	.	.	.	.	T	0.36276	0.0961	L	0.55481	1.735	0.09310	N	1	B;B;B	0.22746	0.043;0.074;0.028	B;B;B	0.23574	0.029;0.047;0.042	T	0.40739	-0.9547	9	0.54805	T	0.06	-16.2752	0.841	0.01150	0.1574:0.1859:0.1637:0.4929	.	318;253;376	B4DIY4;E7ENB5;Q8N4H0	.;.;CI068_HUMAN	S	376;318;253	ENSP00000404277:R376S;ENSP00000417063:R318S;ENSP00000371319:R253S	ENSP00000371319:R253S	R	-	3	2	C9orf68	4594231	0.773000	0.28580	0.001000	0.08648	0.003000	0.03518	0.782000	0.26788	-0.104000	0.12154	-1.024000	0.02432	AGA		0.348	SPATA6L-202	KNOWN	basic	protein_coding	protein_coding		NM_017985		5	44	0	0	0	1	0	5	44					G	4604231	T	G	4604231	3	3	364	1	0	0	0	0	1	0	0	0	2491	1664	58	5	54	5	C9orf68	9	4604231	Missense_Mutation	SNP	T	TCGA-SU-A7E7-01A-22D-A33T-08		4604231	136609200	14	18174											
BRD3	8019	broad.mit.edu	37	chr9	136915560	136915560	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tggcaggaggaggtggggcgGcagctggggggactgggacc	6	4	24	7	1	0	0	0	0	0	0	0	4	0	4	1	11	1	3	1	11	0	0	rs146285241|rs200754629		TCGA-SU-A7E7-01A-22D-A33T-08	TCGA-SU-A7E7-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0c3acfc-b0cc-41e0-833d-928662350c68	a31e4ea8-9af6-4430-845c-9eef051c1179	g.chr9:136915560G>A	ENST00000303407.7	-	5	835	c.650C>T	c.(649-651)gCc>gTc	p.A217V	BRD3_ENST00000357885.2_Missense_Mutation_p.A217V|BRD3_ENST00000371834.2_Missense_Mutation_p.A217V	NM_007371.3	NP_031397.1	Q15059	BRD3_HUMAN	bromodomain containing 3	217					chromatin modification (GO:0016568)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|lysine-acetylated histone binding (GO:0070577)		BRD3/C15orf55(3)	kidney(1)|skin(1)|stomach(4)	6				OV - Ovarian serous cystadenocarcinoma(145;1.43e-08)|Epithelial(140;8.41e-08)|all cancers(34;5.21e-07)		AGGTGGGGCGGCAGCTGGGGG	0.682			T	C15orf55	lethal midline carcinoma of young people																																	ENST00000303407.7				Dom	yes		9	9q34	8019	T	bromodomain containing 3			E	C15orf55		lethal midline carcinoma of young people	BRD3/C15orf55(3)	0				kidney(1)|skin(1)|stomach(4)	6						c.(649-651)gCc>gTc		bromodomain containing 3							55	62	60					9																	136915560		2203	4300	6503	SO:0001583	missense	8019					nucleus	protein binding	g.chr9:136915560G>A		CCDS6980.1	9q34	2010-12-23	2002-01-14		ENSG00000169925	ENSG00000169925			1104	protein-coding gene	gene with protein product	"RING3-like"	601541	"bromodomain-containing 3"			7584044, 8781126	Standard	NM_007371		Approved	RING3L, ORFX, KIAA0043	uc004cew.3	Q15059	OTTHUMG00000021004	ENST00000303407.7:c.650C>T	9.37:g.136915560G>A	ENSP00000305918:p.Ala217Val					BRD3_ENST00000357885.2_Missense_Mutation_p.A217V|BRD3_ENST00000371834.2_Missense_Mutation_p.A217V	p.A217V	NM_007371.3	NP_031397.1	Q15059	BRD3_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.43e-08)|Epithelial(140;8.41e-08)|all cancers(34;5.21e-07)	5	835	-			217					B1APD9|Q4G5Y3|Q5T1R7|Q8N5M3|Q92645	Missense_Mutation	SNP	ENST00000303407.7	37	c.650C>T	CCDS6980.1	.	.	.	.	.	.	.	.	.	.	G	12.20	1.866916	0.32977	.	.	ENSG00000169925	ENST00000303407;ENST00000371834;ENST00000357885	T;T;T	0.30714	1.52;1.52;1.52	4.88	3.96	0.45880	.	0.147080	0.45126	D	0.000389	T	0.18593	0.0446	N	0.17082	0.46	0.52099	D	0.999943	B;B	0.24426	0.103;0.0	B;B	0.28011	0.085;0.001	T	0.06127	-1.0844	10	0.28530	T	0.3	-9.6547	9.714	0.40263	0.1663:0.0:0.8337:0.0	.	217;217	Q15059-2;Q15059	.;BRD3_HUMAN	V	217	ENSP00000305918:A217V;ENSP00000360900:A217V;ENSP00000350557:A217V	ENSP00000305918:A217V	A	-	2	0	BRD3	135905381	0.997000	0.39634	0.175000	0.22980	0.784000	0.44337	3.159000	0.50731	2.404000	0.81709	0.491000	0.48974	GCC		0.682	BRD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055390.4	NM_007371		4	111	0	0	0	1	0	4	111					A	136915560	G	A	136915560	3	1	364	1	0	0	0	0	1	0	0	0	1503	1203	42	3	1562	3	BRD3	9	136915560	Missense_Mutation	SNP	G	TCGA-SU-A7E7-01A-22D-A33T-08	132311329	136915560	4297871	15	18175											
TRIM8	81603	broad.mit.edu	37	chr10	104414839	104414839	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgccctctgtactcgcaggaGaaagtgaaccaactgaagga	13	7	11	10	1	1	3	0	2	1	1	2	5	1	4	2	2	4	2	2	2	5	1			TCGA-SU-A7E7-01A-22D-A33T-08	TCGA-SU-A7E7-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0c3acfc-b0cc-41e0-833d-928662350c68	a31e4ea8-9af6-4430-845c-9eef051c1179	g.chr10:104414839G>A	ENST00000302424.7	+	3	791	c.669G>A	c.(667-669)gaG>gaA	p.E223E	TRIM8_ENST00000487927.1_3'UTR	NM_030912.2	NP_112174.2	Q9BZR9	TRIM8_HUMAN	tripartite motif containing 8	223					innate immune response (GO:0045087)|negative regulation of viral entry into host cell (GO:0046597)|negative regulation of viral release from host cell (GO:1902187)|negative regulation of viral transcription (GO:0032897)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|PML body (GO:0016605)	identical protein binding (GO:0042802)|ligase activity (GO:0016874)|protein homodimerization activity (GO:0042803)|zinc ion binding (GO:0008270)			endometrium(4)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	15		Colorectal(252;0.122)		Epithelial(162;3.93e-09)|all cancers(201;1.02e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)		ACTCGCAGGAGAAAGTGAACC	0.562																																						ENST00000302424.6																			0				endometrium(4)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	15						c.(667-669)gaG>gaA		tripartite motif containing 8							43	39	40					10																	104414839		2203	4300	6503	SO:0001819	synonymous_variant	81603					cytoplasm|PML body	ligase activity|protein homodimerization activity|zinc ion binding	g.chr10:104414839G>A	AF281046	CCDS31274.1	10q24.3	2013-01-09	2011-01-25	2002-06-14	ENSG00000171206	ENSG00000171206		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	15579	protein-coding gene	gene with protein product	"glioblastoma expressed ring finger protein"	606125	"ring finger protein 27", "tripartite motif-containing 8"	RNF27		11118312, 12163497	Standard	NM_030912		Approved	GERP	uc001kvz.2	Q9BZR9	OTTHUMG00000018964	ENST00000302424.7:c.669G>A	10.37:g.104414839G>A						TRIM8_ENST00000487927.1_3'UTR	p.E223E	NM_030912.2	NP_112174.2	Q9BZR9	TRIM8_HUMAN		Epithelial(162;3.93e-09)|all cancers(201;1.02e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)	3	791	+		Colorectal(252;0.122)	223					A6NI31|Q9C028	Silent	SNP	ENST00000302424.7	37	c.669G>A	CCDS31274.1																																																																																				0.562	TRIM8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050084.3	NM_030912		5	38	0	0	0	1	0	5	38					A	104414839	G	A	104414839	2	1	364	1	0	0	0	0	0	0	0	1	16545	933	33	3		3	TRIM8	10	104414839	Silent	SNP	G	TCGA-SU-A7E7-01A-22D-A33T-08		104414839	31119908	16	18176											
TRPM5	29850	broad.mit.edu	37	chr11	2436267	2436267	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggcccgtgggccgcttggccGggcccttctcctggaggaca	3	7	16	15	3	1	0	0	0	1	0	2	2	1	2	5	6	0	1	5	6	0	2			TCGA-SU-A7E7-01A-22D-A33T-08	TCGA-SU-A7E7-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0c3acfc-b0cc-41e0-833d-928662350c68	a31e4ea8-9af6-4430-845c-9eef051c1179	g.chr11:2436267G>A	ENST00000155858.6	-	10	1498	c.1490C>T	c.(1489-1491)cCg>cTg	p.P497L	TRPM5_ENST00000452833.1_Missense_Mutation_p.P499L|TRPM5_ENST00000528453.1_Missense_Mutation_p.P497L|TRPM5_ENST00000533060.1_Missense_Mutation_p.P497L	NM_014555.3	NP_055370.1			transient receptor potential cation channel, subfamily M, member 5											breast(1)|central_nervous_system(1)|endometrium(4)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(2)|urinary_tract(2)	23		Medulloblastoma(188;0.0049)|Breast(177;0.00586)|all_epithelial(84;0.0075)|Ovarian(85;0.0256)|all_neural(188;0.0311)		BRCA - Breast invasive adenocarcinoma(625;0.00147)|LUSC - Lung squamous cell carcinoma(625;0.191)		CCGCTTGGCCGGGCCCTTCTC	0.726																																					NSCLC(1;49 61 17205 18850 43201)	ENST00000452833.1																			0				breast(1)|central_nervous_system(1)|endometrium(4)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(2)|urinary_tract(2)	23						c.(1495-1497)cCg>cTg		transient receptor potential cation channel, subfamily M, member 5							16	22	20					11																	2436267		2167	4261	6428	SO:0001583	missense	29850					integral to membrane|plasma membrane	receptor activity|voltage-gated ion channel activity	g.chr11:2436267G>A	AF177473	CCDS31340.1	11p15.5	2011-12-14			ENSG00000070985	ENSG00000070985		"Voltage-gated ion channels / Transient receptor potential cation channels"	14323	protein-coding gene	gene with protein product		604600				10607831, 16382100	Standard	NM_014555		Approved	LTRPC5, MTR1	uc001lwm.4	Q9NZQ8	OTTHUMG00000009896	ENST00000155858.6:c.1490C>T	11.37:g.2436267G>A	ENSP00000155858:p.Pro497Leu					TRPM5_ENST00000528453.1_Missense_Mutation_p.P497L|TRPM5_ENST00000155858.6_Missense_Mutation_p.P497L|TRPM5_ENST00000533060.1_Missense_Mutation_p.P497L	p.P499L			Q9NZQ8	TRPM5_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00147)|LUSC - Lung squamous cell carcinoma(625;0.191)	10	1504	-		Medulloblastoma(188;0.0049)|Breast(177;0.00586)|all_epithelial(84;0.0075)|Ovarian(85;0.0256)|all_neural(188;0.0311)	497						Missense_Mutation	SNP	ENST00000155858.6	37	c.1496C>T	CCDS31340.1	.	.	.	.	.	.	.	.	.	.	G	1.252	-0.618234	0.03663	.	.	ENSG00000070985	ENST00000533881;ENST00000155858;ENST00000452833;ENST00000533060;ENST00000528453;ENST00000437542	T;T;T;T;T	0.64260	-0.09;-0.09;-0.09;-0.09;-0.09	3.68	3.68	0.42216	.	0.000000	0.43747	D	0.000524	T	0.48205	0.1487	N	0.26042	0.785	0.26551	N	0.973911	B;B;B	0.14438	0.01;0.01;0.008	B;B;B	0.09377	0.004;0.004;0.004	T	0.47302	-0.9128	10	0.46703	T	0.11	-18.1904	13.2803	0.60210	0.0:0.0:1.0:0.0	.	497;499;497	E9PRW0;Q9NZQ8-2;Q9NZQ8	.;.;TRPM5_HUMAN	L	491;497;499;497;497;497	ENSP00000434383:P491L;ENSP00000155858:P497L;ENSP00000387965:P499L;ENSP00000434121:P497L;ENSP00000436809:P497L	ENSP00000155858:P497L	P	-	2	0	TRPM5	2392843	0.004000	0.15560	0.004000	0.12327	0.025000	0.11179	1.345000	0.33953	2.069000	0.61940	0.491000	0.48974	CCG		0.726	TRPM5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000027378.1	NM_014555		4	33	0	0	0	1	0	4	33					A	2436267	G	A	2436267	3	1	364	1	0	0	0	0	1	0	0	0	16586	1116	39	2	2067	2	TRPM5	11	2436267	Missense_Mutation	SNP	G	TCGA-SU-A7E7-01A-22D-A33T-08		2436267	132570249	17	18177											
OR2AT4	341152	broad.mit.edu	37	chr11	74800536	74800536	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ggttgtggtgaaaaggatgtCcaaggtggagagattgatca	12	10	16	3	0	1	3	1	2	0	1	2	6	2	5	1	5	0	1	1	5	3	2			TCGA-SU-A7E7-01A-22D-A33T-08	TCGA-SU-A7E7-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0c3acfc-b0cc-41e0-833d-928662350c68	a31e4ea8-9af6-4430-845c-9eef051c1179	g.chr11:74800536C>T	ENST00000305159.3	-	1	263	c.223G>A	c.(223-225)Gac>Aac	p.D75N		NM_001005285.1	NP_001005285.1	A6NND4	O2AT4_HUMAN	olfactory receptor, family 2, subfamily AT, member 4	75						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(2)	12						AAAAGGATGTCCAAGGTGGAG	0.522																																						ENST00000305159.3																			0				endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(2)	12						c.(223-225)Gac>Aac		olfactory receptor, family 2, subfamily AT, member 4							166	135	145					11																	74800536		2200	4293	6493	SO:0001583	missense	341152				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:74800536C>T	BK004820	CCDS31639.1	11q13.4	2012-08-09			ENSG00000171561	ENSG00000171561		"GPCR / Class A : Olfactory receptors"	19620	protein-coding gene	gene with protein product							Standard	NM_001005285		Approved		uc010rro.2	A6NND4	OTTHUMG00000165370	ENST00000305159.3:c.223G>A	11.37:g.74800536C>T	ENSP00000304846:p.Asp75Asn						p.D75N	NM_001005285.1	NP_001005285.1	A6NND4	O2AT4_HUMAN			1	263	-			75					B9EGZ8	Missense_Mutation	SNP	ENST00000305159.3	37	c.223G>A	CCDS31639.1	.	.	.	.	.	.	.	.	.	.	C	20.1	3.937986	0.73557	.	.	ENSG00000171561	ENST00000305159	T	0.01165	5.24	4.98	4.98	0.66077	GPCR, rhodopsin-like superfamily (1);	0.000000	0.35151	U	0.003417	T	0.09555	0.0235	M	0.90814	3.15	0.41287	D	0.986953	D	0.89917	1.0	D	0.97110	1.0	T	0.00473	-1.1718	10	0.87932	D	0	.	16.1425	0.81536	0.0:1.0:0.0:0.0	.	75	A6NND4	O2AT4_HUMAN	N	75	ENSP00000304846:D75N	ENSP00000304846:D75N	D	-	1	0	OR2AT4	74478184	1.000000	0.71417	0.978000	0.43139	0.908000	0.53690	6.011000	0.70760	2.488000	0.83962	0.555000	0.69702	GAC		0.522	OR2AT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383734.1	NM_001005285		6	43	0	0	0	1	0	6	43					T	74800536	C	T	74800536	3	4	364	1	0	0	0	0	1	0	0	0	10987	855	30	3	742	3	OR2AT4	11	74800536	Missense_Mutation	SNP	C	TCGA-SU-A7E7-01A-22D-A33T-08	72364269	74800536	60205980	18	18178											
SAMD4A	23034	broad.mit.edu	37	chr14	55227159	55227159	+	Frame_Shift_Del	DEL	C	C	-																															cgatggggagctggccgtcgCccccctgccagagggggacc																										TCGA-SU-A7E7-01A-22D-A33T-08	TCGA-SU-A7E7-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0c3acfc-b0cc-41e0-833d-928662350c68	a31e4ea8-9af6-4430-845c-9eef051c1179	g.chr14:55227159delC	ENST00000554335.1	+	7	2120	c.1457delC	c.(1456-1458)gccfs	p.A486fs	SAMD4A_ENST00000555192.1_Frame_Shift_Del_p.A77fs|SAMD4A_ENST00000392067.3_Frame_Shift_Del_p.A486fs|SAMD4A_ENST00000357634.3_Frame_Shift_Del_p.A485fs|SAMD4A_ENST00000251091.5_Frame_Shift_Del_p.A398fs			Q9UPU9	SMAG1_HUMAN	sterile alpha motif domain containing 4A	486					negative regulation of translation (GO:0017148)|positive regulation of translation (GO:0045727)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|neuron projection (GO:0043005)|synapse (GO:0045202)	poly(A) RNA binding (GO:0044822)|translation repressor activity (GO:0030371)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|prostate(1)|skin(1)	29						CTGGCCGTCGCCCCCCTGCCA	0.687																																						ENST00000251091.5																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|prostate(1)|skin(1)	29						c.(1192-1194)gcfs		sterile alpha motif domain containing 4A							4	6	5					14																	55227159		1978	3900	5878	SO:0001589	frameshift_variant	23034				positive regulation of translation	cell junction|cytoplasm|dendrite|synapse|synaptosome	translation repressor activity	g.chr14:55227159delC	AB028976	CCDS32084.1, CCDS55917.1, CCDS55918.1, CCDS32084.2, CCDS55917.2	14q22.2	2013-01-10	2006-01-27	2006-01-27	ENSG00000020577	ENSG00000020577		"Sterile alpha motif (SAM) domain containing"	23023	protein-coding gene	gene with protein product	"smaug homolog (Drosophila)"	610747	"sterile alpha motif domain containing 4"	SAMD4		16221671	Standard	NM_001161577		Approved	KIAA1053, DKFZP434H0350, Smaug, SMG, SMGA, hSmaug1	uc001xbb.4	Q9UPU9	OTTHUMG00000170999	ENST00000554335.1:c.1457delC	14.37:g.55227159delC	ENSP00000452535:p.Ala486fs					SAMD4A_ENST00000357634.3_Frame_Shift_Del_p.A485fs|SAMD4A_ENST00000554335.1_Frame_Shift_Del_p.A486fs|SAMD4A_ENST00000392067.3_Frame_Shift_Del_p.A486fs|SAMD4A_ENST00000555192.1_Frame_Shift_Del_p.A77fs	p.A398fs	NM_001161576.2	NP_001155048.2	Q9UPU9	SMAG1_HUMAN			5	1498	+			486					A8MPZ5|Q0VA96|Q6PEW4	Frame_Shift_Del	DEL	ENST00000554335.1	37	c.1193delC	CCDS32084.2																																																																																				0.687	SAMD4A-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000411186.1	NM_015589		2	4						2	4	---	---	---	---	-	55227159	C	-	55227159	7	5	364	1	0	1	0	1	0	0	0	0	13821	739	26	0	1476	0	SAMD4A	14	55227159	Frame_Shift_Del	DEL	C	TCGA-SU-A7E7-01A-22D-A33T-08		55227159	52122381	19	18179											
CCNK	8812	broad.mit.edu	37	chr14	99961911	99961911	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atgtaaagatatcatcaaaaCagctcgtagtttattaaatg	17	13	6	5	1	2	1	2	0	0	1	3	1	2	1	0	0	2	4	0	0	9	6			TCGA-SU-A7E7-01A-22D-A33T-08	TCGA-SU-A7E7-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0c3acfc-b0cc-41e0-833d-928662350c68	a31e4ea8-9af6-4430-845c-9eef051c1179	g.chr14:99961911C>T	ENST00000389879.5	+	4	479	c.356C>T	c.(355-357)aCa>aTa	p.T119I	CCNK_ENST00000555049.1_Missense_Mutation_p.T119I|CCNK_ENST00000557165.1_3'UTR	NM_001099402.1	NP_001092872.1	O75909	CCNK_HUMAN	cyclin K	119					cellular response to DNA damage stimulus (GO:0006974)|in utero embryonic development (GO:0001701)|mitotic nuclear division (GO:0007067)|negative regulation of cell cycle arrest (GO:0071157)|protein phosphorylation (GO:0006468)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cyclin K-CDK12 complex (GO:0002944)|cyclin K-CDK13 complex (GO:0002945)|nucleus (GO:0005634)	cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase binding (GO:0019901)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)			NS(1)|endometrium(2)|lung(3)	6		all_cancers(154;0.224)|all_epithelial(191;0.0643)|Melanoma(154;0.0866)				ATCATCAAAACAGCTCGTAGT	0.378																																						ENST00000389879.5																			0				NS(1)|endometrium(2)|lung(3)	6						c.(355-357)aCa>aTa		cyclin K							142	138	140					14																	99961911		1835	4092	5927	SO:0001583	missense	8812				cell division|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter		protein kinase binding	g.chr14:99961911C>T	AF060515	CCDS45160.1	14q32.2	2014-07-03			ENSG00000090061	ENSG00000090061			1596	protein-coding gene	gene with protein product		603544				9632813, 10574912	Standard	NM_001099402		Approved	CPR4	uc001ygi.4	O75909	OTTHUMG00000171495	ENST00000389879.5:c.356C>T	14.37:g.99961911C>T	ENSP00000374529:p.Thr119Ile					CCNK_ENST00000557165.1_3'UTR|CCNK_ENST00000555049.1_Missense_Mutation_p.T119I	p.T119I	NM_001099402.1	NP_001092872.1	O75909	CCNK_HUMAN			4	479	+		all_cancers(154;0.224)|all_epithelial(191;0.0643)|Melanoma(154;0.0866)	119					Q59FT6|Q86U16|Q96B63|Q9NNY9	Missense_Mutation	SNP	ENST00000389879.5	37	c.356C>T	CCDS45160.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.086914	0.76642	.	.	ENSG00000090061	ENST00000437596;ENST00000216279;ENST00000380246;ENST00000389879;ENST00000557441;ENST00000555049	T;T;T	0.08896	3.04;3.04;3.04	6.14	6.14	0.99180	Cyclin, N-terminal (1);Cyclin-like (3);	0.000000	0.85682	D	0.000000	T	0.21387	0.0515	L	0.35854	1.095	0.80722	D	1	P;B	0.41929	0.765;0.307	P;P	0.59056	0.851;0.511	T	0.00078	-1.2114	10	0.36615	T	0.2	-21.9794	20.8597	0.99761	0.0:1.0:0.0:0.0	.	119;119	O75909;O75909-2	CCNK_HUMAN;.	I	119	ENSP00000374529:T119I;ENSP00000450792:T119I;ENSP00000452307:T119I	ENSP00000216279:T119I	T	+	2	0	CCNK	99031664	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.666000	0.83877	2.937000	0.99478	0.650000	0.86243	ACA		0.378	CCNK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413721.1			11	79	0	0	0	1	0	11	79					T	99961911	C	T	99961911	3	4	364	1	0	0	0	0	1	0	0	0	2930	478	17	3	366	3	CCNK	14	99961911	Missense_Mutation	SNP	C	TCGA-SU-A7E7-01A-22D-A33T-08	44734752	99961911	7387629	20	18180											
PHKG2	5261	broad.mit.edu	37	chr16	30768222	30768222	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	actgttgagggacccttatgCgctgcggtcagtgcggcacc	6	9	14	12	3	1	1	1	1	0	0	1	2	1	2	2	3	3	3	2	3	1	2			TCGA-SU-A7E7-01A-22D-A33T-08	TCGA-SU-A7E7-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0c3acfc-b0cc-41e0-833d-928662350c68	a31e4ea8-9af6-4430-845c-9eef051c1179	g.chr16:30768222C>T	ENST00000563588.1	+	10	1264	c.1025C>T	c.(1024-1026)gCg>gTg	p.A342V	PHKG2_ENST00000424889.3_Missense_Mutation_p.A342V|PHKG2_ENST00000328273.7_Missense_Mutation_p.A346V	NM_000294.2	NP_000285.1	P15735	PHKG2_HUMAN	phosphorylase kinase, gamma 2 (testis)	342					carbohydrate metabolic process (GO:0005975)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|glycogen catabolic process (GO:0005980)|glycogen metabolic process (GO:0005977)|positive regulation of glycogen catabolic process (GO:0045819)|protein phosphorylation (GO:0006468)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|phosphorylase kinase complex (GO:0005964)	ATP binding (GO:0005524)|phosphorylase kinase activity (GO:0004689)|protein serine/threonine kinase activity (GO:0004674)|tau-protein kinase activity (GO:0050321)			ovary(1)|skin(1)	2			Colorectal(24;0.198)			GACCCTTATGCGCTGCGGTCA	0.607																																						ENST00000563588.1																			0				ovary(1)|skin(1)	2						c.(1024-1026)gCg>gTg		phosphorylase kinase, gamma 2 (testis)							125	109	114					16																	30768222		2197	4300	6497	SO:0001583	missense	5261				glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol	ATP binding|calmodulin binding|phosphorylase kinase activity	g.chr16:30768222C>T	S73483, M31606	CCDS10690.1, CCDS54002.1	16p11.2	2008-02-05			ENSG00000156873	ENSG00000156873			8931	protein-coding gene	gene with protein product		172471				2915644, 8020963	Standard	NM_000294		Approved		uc021tgo.1	P15735	OTTHUMG00000132400	ENST00000563588.1:c.1025C>T	16.37:g.30768222C>T	ENSP00000455607:p.Ala342Val					PHKG2_ENST00000424889.3_Missense_Mutation_p.A342V|PHKG2_ENST00000328273.7_Missense_Mutation_p.A346V	p.A342V	NM_000294.2	NP_000285.1	P15735	PHKG2_HUMAN	Colorectal(24;0.198)		10	1264	+			342					A8K0C7|B4DEB7|E9PEU3|P11800	Missense_Mutation	SNP	ENST00000563588.1	37	c.1025C>T	CCDS10690.1	.	.	.	.	.	.	.	.	.	.	C	19.99	3.929126	0.73327	.	.	ENSG00000156873	ENST00000328273;ENST00000424889	T	0.31769	1.48	6.07	5.06	0.68205	Protein kinase-like domain (1);	0.145164	0.32357	N	0.006216	T	0.41282	0.1152	M	0.62723	1.935	0.34416	D	0.696906	P;P	0.42993	0.695;0.797	B;P	0.46419	0.317;0.516	T	0.54556	-0.8276	10	0.51188	T	0.08	-15.2995	16.7629	0.85517	0.0:0.7965:0.2035:0.0	.	342;342	P15735;P15735-2	PHKG2_HUMAN;.	V	342	ENSP00000388571:A342V	ENSP00000329968:A342V	A	+	2	0	PHKG2	30675723	0.998000	0.40836	0.321000	0.25320	0.897000	0.52465	4.017000	0.57167	2.884000	0.98904	0.655000	0.94253	GCG		0.607	PHKG2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000255531.2	NM_000294		4	169	0	0	0	1	0	4	169					T	30768222	C	T	30768222	3	4	364	1	0	0	0	0	1	0	0	0	11847	768	27	1	1059	1	PHKG2	16	30768222	Missense_Mutation	SNP	C	TCGA-SU-A7E7-01A-22D-A33T-08		30768222	59586531	21	18181											
CTCF	10664	broad.mit.edu	37	chr16	67654616	67654616	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaggtcagcaaattaaaacGtcacattcgctctcatactg	13	11	6	11	2	4	0	4	0	1	0	6	0	4	0	0	1	3	2	0	1	4	3			TCGA-SU-A7E7-01A-22D-A33T-08	TCGA-SU-A7E7-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0c3acfc-b0cc-41e0-833d-928662350c68	a31e4ea8-9af6-4430-845c-9eef051c1179	g.chr16:67654616G>A	ENST00000264010.4	+	6	1547	c.1103G>A	c.(1102-1104)cGt>cAt	p.R368H	CTCF_ENST00000401394.1_Missense_Mutation_p.R40H	NM_006565.3	NP_006556.1	P49711	CTCF_HUMAN	CCCTC-binding factor (zinc finger protein)	368					chromatin modification (GO:0016568)|chromosome segregation (GO:0007059)|DNA methylation (GO:0006306)|maintenance of DNA methylation (GO:0010216)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome positioning (GO:0016584)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of centromeric sister chromatid cohesion (GO:0070602)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of gene expression, epigenetic (GO:0040029)|regulation of histone acetylation (GO:0035065)|regulation of histone methylation (GO:0031060)|regulation of molecular function, epigenetic (GO:0040030)	chromosome, centromeric region (GO:0000775)|condensed chromosome (GO:0000793)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin insulator sequence binding (GO:0043035)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.R368H(1)		breast(6)|central_nervous_system(2)|cervix(1)|endometrium(34)|haematopoietic_and_lymphoid_tissue(7)|kidney(3)|large_intestine(9)|liver(1)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	79		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0166)|Epithelial(162;0.0577)		AAATTAAAACGTCACATTCGC	0.438																																					Colon(175;1200 1966 6945 23069 27405)	ENST00000264010.4																			1	Substitution - Missense(1)	p.R368H(1)	ovary(1)	breast(6)|central_nervous_system(2)|cervix(1)|endometrium(34)|haematopoietic_and_lymphoid_tissue(7)|kidney(3)|large_intestine(9)|liver(1)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	79						c.(1102-1104)cGt>cAt		CCCTC-binding factor (zinc finger protein)							163	132	143					16																	67654616		2198	4300	6498	SO:0001583	missense	10664				chromatin modification|chromosome segregation|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|regulation of centromeric sister chromatid cohesion|regulation of molecular function, epigenetic	chromosome, centromeric region|condensed chromosome|nucleolus|nucleoplasm	chromatin insulator sequence binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr16:67654616G>A	U25435	CCDS10841.1, CCDS54029.1	16q21-q22.3	2013-01-08			ENSG00000102974	ENSG00000102974		"Zinc fingers, C2H2-type"	13723	protein-coding gene	gene with protein product	"11 zinc finger transcriptional repressor"	604167				8649389, 18550811	Standard	NM_006565		Approved		uc002etl.3	P49711	OTTHUMG00000137539	ENST00000264010.4:c.1103G>A	16.37:g.67654616G>A	ENSP00000264010:p.Arg368His					CTCF_ENST00000401394.1_Missense_Mutation_p.R40H	p.R368H	NM_006565.3	NP_006556.1	P49711	CTCF_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0166)|Epithelial(162;0.0577)	6	1547	+		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)	368					B5MC38|Q53XI7|Q59EL8	Missense_Mutation	SNP	ENST00000264010.4	37	c.1103G>A	CCDS10841.1	.	.	.	.	.	.	.	.	.	.	G	36	5.835727	0.97003	.	.	ENSG00000102974	ENST00000264010;ENST00000401394	T;T	0.26810	1.71;1.71	6.06	6.06	0.98353	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.64402	D	0.000002	T	0.54303	0.1850	M	0.69523	2.12	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.48937	-0.8990	10	0.56958	D	0.05	-2.8807	20.6208	0.99490	0.0:0.0:1.0:0.0	.	368	P49711	CTCF_HUMAN	H	368;40	ENSP00000264010:R368H;ENSP00000384707:R40H	ENSP00000264010:R368H	R	+	2	0	CTCF	66212117	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.882000	0.98803	0.655000	0.94253	CGT		0.438	CTCF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268870.2	NM_006565		5	104	0	0	0	1	0	5	104					A	67654616	G	A	67654616	3	1	364	1	0	0	0	0	1	0	0	0	4000	1145	40	1	1117	1	CTCF	16	67654616	Missense_Mutation	SNP	G	TCGA-SU-A7E7-01A-22D-A33T-08	36886394	67654616	22700137	22	18182											
POLR2A	5430	broad.mit.edu	37	chr17	7405016	7405016	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcaagtctatggtcgtgtccGgagctaaaggttccaagatt	10	12	11	8	2	2	1	1	0	1	1	5	2	4	2	2	3	1	2	2	3	5	4			TCGA-SU-A7E7-01A-22D-A33T-08	TCGA-SU-A7E7-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0c3acfc-b0cc-41e0-833d-928662350c68	a31e4ea8-9af6-4430-845c-9eef051c1179	g.chr17:7405016G>A	ENST00000322644.6	+	14	2716	c.2317G>A	c.(2317-2319)Gga>Aga	p.G773R		NM_000937.4	NP_000928	P24928	RPB1_HUMAN	polymerase (RNA) II (DNA directed) polypeptide A, 220kDa	773					7-methylguanosine mRNA capping (GO:0006370)|DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|nucleotide-excision repair (GO:0006289)|positive regulation of viral transcription (GO:0050434)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032)	DNA-directed RNA polymerase II, core complex (GO:0005665)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|RNA-directed RNA polymerase activity (GO:0003968)|ubiquitin protein ligase binding (GO:0031625)			breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(17)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	50		Prostate(122;0.173)				GGTCGTGTCCGGAGCTAAAGG	0.483																																						ENST00000322644.6																			0				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(17)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	50						c.(2317-2319)Gga>Aga		polymerase (RNA) II (DNA directed) polypeptide A, 220kDa							63	59	61					17																	7405016		2203	4300	6503	SO:0001583	missense	5430				mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|RNA-directed RNA polymerase activity|ubiquitin protein ligase binding	g.chr17:7405016G>A			17p13.1	2013-01-21	2002-08-29		ENSG00000181222	ENSG00000181222	2.7.7.6	"RNA polymerase subunits"	9187	protein-coding gene	gene with protein product	"DNA-directed RNA polymerase II largest subunit, RNA polymerase II 220 kd subunit", "RNA polymerase II subunit B1"	180660	"polymerase (RNA) II (DNA directed) polypeptide A (220kD)"	POLR2			Standard	NM_000937		Approved	POLRA, RPB1	uc002ghf.4	P24928	OTTHUMG00000177594	ENST00000322644.6:c.2317G>A	17.37:g.7405016G>A	ENSP00000314949:p.Gly773Arg						p.G773R	NM_000937.4	NP_000928.1	P24928	RPB1_HUMAN			14	2716	+		Prostate(122;0.173)	773					A6NN93|B9EH88|Q6NX41	Missense_Mutation	SNP	ENST00000322644.6	37	c.2317G>A	CCDS32548.1	.	.	.	.	.	.	.	.	.	.	G	28.8	4.947770	0.92593	.	.	ENSG00000181222	ENST00000535204;ENST00000322644	D	0.97378	-4.36	5.82	5.82	0.92795	RNA polymerase Rpb1, domain 4 (1);	0.000000	0.85682	D	0.000000	D	0.99275	0.9747	H	0.99249	4.485	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98602	1.0659	10	0.87932	D	0	-6.8597	18.8608	0.92271	0.0:0.0:1.0:0.0	.	773	P24928	RPB1_HUMAN	R	729;773	ENSP00000314949:G773R	ENSP00000314949:G773R	G	+	1	0	SLC35G6	7345740	1.000000	0.71417	0.904000	0.35570	0.986000	0.74619	9.627000	0.98412	2.761000	0.94854	0.655000	0.94253	GGA		0.483	POLR2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437967.1	NM_000937		3	50	0	0	0	1	0	3	50					A	7405016	G	A	7405016	3	1	364	1	0	0	0	0	1	0	0	0	12214	1117	39	2	2371	2	POLR2A	17	7405016	Missense_Mutation	SNP	G	TCGA-SU-A7E7-01A-22D-A33T-08		7405016	73790194	23	18183											
CNTROB	116840	broad.mit.edu	37	chr17	7852810	7852810	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ccgagtagcatgaggagccgGgggggagtctggagatgagc	9	5	20	7	2	1	3	0	2	1	1	1	7	1	5	2	5	3	2	2	5	1	1	rs185320189	byFrequency	TCGA-SU-A7E7-01A-22D-A33T-08	TCGA-SU-A7E7-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0c3acfc-b0cc-41e0-833d-928662350c68	a31e4ea8-9af6-4430-845c-9eef051c1179	g.chr17:7852810G>T	ENST00000563694.1	+	19	3619	c.2694G>T	c.(2692-2694)cgG>cgT	p.R898R	CNTROB_ENST00000380262.3_Silent_p.R920R|CNTROB_ENST00000380255.3_3'UTR|CNTROB_ENST00000565740.1_Silent_p.R899R	NM_053051.3	NP_444279.2	Q8N137	CNTRB_HUMAN	centrobin, centrosomal BRCA2 interacting protein	898	Required for centrosome localization.				centriole replication (GO:0007099)|centrosome separation (GO:0051299)|cytokinesis (GO:0000910)	centriole (GO:0005814)|centrosome (GO:0005813)|cytoplasm (GO:0005737)	protein domain specific binding (GO:0019904)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)	25		Prostate(122;0.173)				TGAGGAGCCGGGGGGGAGTCT	0.552													G|||	6	0.00119808	0	0	5008	,	,		15670	0.006		0	False		,,,				2504	0					ENST00000380262.3																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)	25						c.(2758-2760)cgG>cgT		centrobin, centrosomal BRCA2 interacting protein							30	36	34					17																	7852810		2201	4299	6500	SO:0001819	synonymous_variant	116840				centriole replication|centrosome separation|cytokinesis	centriole	protein domain specific binding	g.chr17:7852810G>T	AF331638	CCDS32557.1, CCDS11126.1	17p13.1	2006-03-15				ENSG00000170037			29616	protein-coding gene	gene with protein product	"centrobin"	611425				11984006, 16275750	Standard	NM_001037144		Approved	LIP8, PP1221	uc002gjp.3	Q8N137		ENST00000563694.1:c.2694G>T	17.37:g.7852810G>T						CNTROB_ENST00000380255.3_3'UTR|CNTROB_ENST00000563694.1_Silent_p.R898R|CNTROB_ENST00000565740.1_Silent_p.R899R	p.R920R	NM_001037144.5	NP_001032221.1	Q8N137	CNTRB_HUMAN			19	3685	+		Prostate(122;0.173)	898					A6NHQ1|Q331K3|Q69YV7|Q8NCB8|Q8WXV3|Q96CQ7|Q9C060	Silent	SNP	ENST00000563694.1	37	c.2760G>T	CCDS11126.1																																																																																				0.552	CNTROB-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000421372.1	NM_053051		7	43	1	0	0.000157383	1	0.000161043	7	43					T	7852810	G	T	7852810	2	4	364	1	0	0	0	0	0	0	0	1	3651	1219	43	5		5	CNTROB	17	7852810	Silent	SNP	G	TCGA-SU-A7E7-01A-22D-A33T-08	447794	7852810	73342400	24	18184											
UBB	7314	broad.mit.edu	37	chr17	16285560	16285560	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggataaagaaggcatcccTcccgaccagcagaggctcat	13	5	10	13	1	1	2	1	0	0	2	3	4	3	3	3	3	1	3	3	3	3	1			TCGA-SU-A7E7-01A-22D-A33T-08	TCGA-SU-A7E7-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0c3acfc-b0cc-41e0-833d-928662350c68	a31e4ea8-9af6-4430-845c-9eef051c1179	g.chr17:16285560T>C	ENST00000395837.1	+	2	520	c.339T>C	c.(337-339)ccT>ccC	p.P113P	UBB_ENST00000395839.1_Silent_p.P113P|RP11-138I1.4_ENST00000583934.1_RNA|UBB_ENST00000302182.3_Silent_p.P113P|UBB_ENST00000535788.1_Intron|UBB_ENST00000578649.1_Intron	NM_001281718.1|NM_001281720.1	NP_001268647.1|NP_001268649.1	P0CG47	UBB_HUMAN	ubiquitin B	113	Ubiquitin-like 2. {ECO:0000255|PROSITE- ProRule:PRU00214}.		GMQIFVKTLTGKTITLEVEPSDTIENVKAKIQDKEGIPPDQ QRLIFAGKQLEDGRTLSDYNIQKESTLHLVLRLRGGMQIFV KTLTGKTITLEVEPSDTIENVKAKIQDKEGIPPDQQRLIFA GKQLEDGRTLSDYNIQKESTLHLVLRLRGGC -> YADLRE DPDRQDHHPGSGAQ (in UBB(+1); loss of polyubiquitination; impairs the ubiquitin-proteasome pathway; refractory to disassembly by DUBs; slow degradation by UCHL3).		activation of MAPK activity (GO:0000187)|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|carbohydrate metabolic process (GO:0005975)|cellular response to hypoxia (GO:0071456)|cytokine-mediated signaling pathway (GO:0019221)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|endosomal transport (GO:0016197)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|intracellular transport of virus (GO:0075733)|ion transmembrane transport (GO:0034220)|JNK cascade (GO:0007254)|membrane organization (GO:0061024)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of type I interferon production (GO:0032480)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of apoptotic process (GO:0043065)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of type I interferon production (GO:0032479)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|stress-activated MAPK cascade (GO:0051403)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|transmembrane transport (GO:0055085)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral protein processing (GO:0019082)|virion assembly (GO:0019068)	cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16				UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)		AAGGCATCCCTCCCGACCAGC	0.557																																					Melanoma(163;1126 3406 34901)	ENST00000302182.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						c.(337-339)ccT>ccC		ubiquitin B							115	112	113					17																	16285560		2203	4300	6503	SO:0001819	synonymous_variant	7314				activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|viral reproduction	cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane	protein binding	g.chr17:16285560T>C		CCDS11177.1	17p12-p11.2	2010-11-25			ENSG00000170315	ENSG00000170315			12463	protein-coding gene	gene with protein product	"polyubiquitin B"	191339				2154095	Standard	NM_018955		Approved	MGC8385, FLJ25987	uc002gpx.3	P0CG47	OTTHUMG00000058987	ENST00000395837.1:c.339T>C	17.37:g.16285560T>C						UBB_ENST00000395839.1_Silent_p.P113P|UBB_ENST00000578649.1_Intron|UBB_ENST00000535788.1_Intron|UBB_ENST00000395837.1_Silent_p.P113P|RP11-138I1.4_ENST00000583934.1_RNA	p.P113P	NM_018955.2	NP_061828.1	P0CG47	UBB_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)	2	731	+			113			Ubiquitin-like 2.		P02248|P02249|P02250|P62988|Q29120|Q6LBL4|Q6LDU5|Q8WYN8|Q91887|Q91888|Q9BWD6|Q9BX98|Q9UEF2|Q9UEG1|Q9UEK8|Q9UPK7	Silent	SNP	ENST00000395837.1	37	c.339T>C	CCDS11177.1																																																																																				0.557	UBB-002	NOVEL	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000130459.1	NM_018955		4	105	0	0	0	1	0	4	105					C	16285560	T	C	16285560	2	2	364	1	0	0	0	0	0	0	0	1	16838	1538	54	4		4	UBB	17	16285560	Silent	SNP	T	TCGA-SU-A7E7-01A-22D-A33T-08	8432750	16285560	64909650	25	18185											
EPN2	22905	broad.mit.edu	37	chr17	19215386	19215386	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aagaacgcctcaggcggggtGatgacctcagattacagatg	12	7	13	9	2	2	5	2	2	0	3	2	5	2	5	2	3	2	0	2	3	3	1			TCGA-SU-A7E7-01A-22D-A33T-08	TCGA-SU-A7E7-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0c3acfc-b0cc-41e0-833d-928662350c68	a31e4ea8-9af6-4430-845c-9eef051c1179	g.chr17:19215386G>A	ENST00000314728.5	+	6	1385	c.901G>A	c.(901-903)Gat>Aat	p.D301N	EPN2_ENST00000347697.2_Missense_Mutation_p.D244N|EPN2_ENST00000571254.1_Missense_Mutation_p.D244N|EPN2_ENST00000395620.2_Missense_Mutation_p.D244N|EPN2_ENST00000395626.1_Missense_Mutation_p.D301N|EPN2_ENST00000575595.1_Missense_Mutation_p.D16N|EPN2_ENST00000395618.3_Missense_Mutation_p.D16N	NM_014964.4	NP_055779.2	O95208	EPN2_HUMAN	epsin 2	301					embryonic organ development (GO:0048568)|endocytosis (GO:0006897)|in utero embryonic development (GO:0001701)|Notch signaling pathway (GO:0007219)	clathrin coat of endocytic vesicle (GO:0030128)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	lipid binding (GO:0008289)			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	19	all_cancers(12;3.11e-05)|all_epithelial(12;0.00121)|Hepatocellular(7;0.00345)|Breast(13;0.143)					CAGGCGGGGTGATGACCTCAG	0.458																																						ENST00000314728.5																			0				breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	19						c.(901-903)Gat>Aat		epsin 2							146	152	150					17																	19215386		2203	4300	6503	SO:0001583	missense	22905				endocytosis		lipid binding	g.chr17:19215386G>A	AB028988	CCDS11203.1, CCDS11204.1, CCDS42277.1	17p11.2	2012-11-19			ENSG00000072134	ENSG00000072134			18639	protein-coding gene	gene with protein product	"Eps15 binding protein"	607263				10567358	Standard	NM_014964		Approved	KIAA1065, EHB21	uc002gvd.4	O95208	OTTHUMG00000178447	ENST00000314728.5:c.901G>A	17.37:g.19215386G>A	ENSP00000320543:p.Asp301Asn					EPN2_ENST00000347697.2_Missense_Mutation_p.D244N|EPN2_ENST00000395626.1_Missense_Mutation_p.D301N|EPN2_ENST00000575595.1_Missense_Mutation_p.D16N|EPN2_ENST00000395618.3_Missense_Mutation_p.D16N|EPN2_ENST00000395620.2_Missense_Mutation_p.D244N|EPN2_ENST00000571254.1_Missense_Mutation_p.D244N	p.D301N	NM_014964.4	NP_055779.2	O95208	EPN2_HUMAN			6	1385	+	all_cancers(12;3.11e-05)|all_epithelial(12;0.00121)|Hepatocellular(7;0.00345)|Breast(13;0.143)		301					A8MTV8|B3KRX8|E9PBC2|O95207|Q52LD0|Q9H7Z2|Q9UPT7	Missense_Mutation	SNP	ENST00000314728.5	37	c.901G>A	CCDS11203.1	.	.	.	.	.	.	.	.	.	.	G	29.0	4.969994	0.92855	.	.	ENSG00000072134	ENST00000347697;ENST00000395618;ENST00000314728;ENST00000395628;ENST00000395620;ENST00000395626	T;T;T;T;T;T	0.60548	2.14;0.68;1.38;1.1;2.14;0.18	5.39	4.42	0.53409	Ubiquitin interacting motif (2);	0.083744	0.85682	D	0.000000	T	0.76435	0.3987	M	0.81682	2.555	0.58432	D	0.999999	D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;0.992;0.998;1.0;1.0	D;D;D;D;D;D;D;D	0.97110	0.998;0.998;1.0;1.0;0.914;0.995;0.998;0.989	T	0.80195	-0.1483	10	0.72032	D	0.01	-21.2605	14.278	0.66194	0.0718:0.0:0.9282:0.0	.	244;244;16;16;301;244;244;301	Q52LD0;B7ZKM5;B7Z3A5;A8MTV8;E9PBC1;E7EMC3;E9PBC2;O95208	.;.;.;.;.;.;.;EPN2_HUMAN	N	244;16;301;244;244;301	ENSP00000261495:D244N;ENSP00000378980:D16N;ENSP00000320543:D301N;ENSP00000378990:D244N;ENSP00000378982:D244N;ENSP00000378988:D301N	ENSP00000320543:D301N	D	+	1	0	EPN2	19155979	1.000000	0.71417	0.992000	0.48379	0.993000	0.82548	9.191000	0.94940	1.283000	0.44513	0.655000	0.94253	GAT		0.458	EPN2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000132283.3	NM_014964		8	105	0	0	0	1	0	8	105					A	19215386	G	A	19215386	3	1	364	1	0	0	0	0	1	0	0	0	5186	1290	45	3	915	3	EPN2	17	19215386	Missense_Mutation	SNP	G	TCGA-SU-A7E7-01A-22D-A33T-08	2929826	19215386	61979824	26	18186											
CYTSB	92521	broad.mit.edu	37	chr17	20109180	20109180	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gagctcagacaagaattactAaaggcaaacggtgaaattaa	19	7	9	6	1	1	3	1	1	0	2	1	4	1	3	0	2	3	2	0	2	8	3			TCGA-SU-A7E7-01A-22D-A33T-08	TCGA-SU-A7E7-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0c3acfc-b0cc-41e0-833d-928662350c68	a31e4ea8-9af6-4430-845c-9eef051c1179	g.chr17:20109180A>G	ENST00000261503.5	+	4	1869	c.1818A>G	c.(1816-1818)ctA>ctG	p.L606L	SPECC1_ENST00000536879.1_Intron|SPECC1_ENST00000584527.1_Silent_p.L24L|SPECC1_ENST00000395525.3_Silent_p.L525L|SPECC1_ENST00000395522.2_Silent_p.L525L|SPECC1_ENST00000395530.2_Silent_p.L525L|SPECC1_ENST00000395529.3_Silent_p.L606L|AC004702.2_ENST00000580225.1_lincRNA|SPECC1_ENST00000472876.1_Intron|SPECC1_ENST00000395527.4_Silent_p.L606L	NM_001033553.2	NP_001028725.1	Q5M775	CYTSB_HUMAN	sperm antigen with calponin homology and coiled-coil domains 1	606					cell adhesion (GO:0007155)	nucleus (GO:0005634)				breast(1)|large_intestine(3)|ovary(4)	8				KIRC - Kidney renal clear cell carcinoma(2;0.166)|Kidney(2;0.196)		AAGAATTACTAAAGGCAAACG	0.443																																						ENST00000395530.2																			0				breast(1)|large_intestine(3)|ovary(4)	8						c.(1573-1575)ctA>ctG		sperm antigen with calponin homology and coiled-coil domains 1							85	86	86					17																	20109180		2196	4294	6490	SO:0001819	synonymous_variant	92521					nucleus		g.chr17:20109180A>G	AY816329, AB041533	CCDS32590.1, CCDS42280.1, CCDS42281.1, CCDS45628.1, CCDS58531.1	17p11.2	2012-11-19	2010-09-17	2010-09-17	ENSG00000128487	ENSG00000128487			30615	protein-coding gene	gene with protein product	"sperm antigen HCMOGT 1", "cytokinesis and spindle organization B", "cytospin B"	608793				15602574, 18763323, 15087372	Standard	NM_001033553		Approved	HCMOGT-1, FLJ36955, NSP, CYTSB	uc002gwq.3	Q5M775	OTTHUMG00000179808	ENST00000261503.5:c.1818A>G	17.37:g.20109180A>G						SPECC1_ENST00000472876.1_Intron|SPECC1_ENST00000261503.5_Silent_p.L606L|SPECC1_ENST00000395529.3_Silent_p.L606L|SPECC1_ENST00000395527.4_Silent_p.L606L|SPECC1_ENST00000395522.2_Silent_p.L525L|SPECC1_ENST00000536879.1_Intron|SPECC1_ENST00000584527.1_Silent_p.L24L|SPECC1_ENST00000395525.3_Silent_p.L525L|AC004702.2_ENST00000580225.1_lincRNA	p.L525L	NM_001033555.2	NP_001028727.1	Q5M775	CYTSB_HUMAN		KIRC - Kidney renal clear cell carcinoma(2;0.166)|Kidney(2;0.196)	2	1783	+			606					B4DHH0|B7WNS8|Q5IBP1|Q5IBP2|Q5IBP3|Q5IBP4|Q5M772|Q5M773|Q5M774|Q86XT8|Q8N4U4|Q8WU84|Q9HCQ3	Silent	SNP	ENST00000261503.5	37	c.1575A>G	CCDS32590.1																																																																																				0.443	SPECC1-018	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441206.1	NM_152904		12	93	0	0	0	1	0	12	93					G	20109180	A	G	20109180	2	3	364	1	0	0	0	0	0	0	0	1	4210	349	13	4		4	CYTSB	17	20109180	Silent	SNP	A	TCGA-SU-A7E7-01A-22D-A33T-08	893794	20109180	61086030	27	18187											
ST6GALNAC1	55808	broad.mit.edu	37	chr17	74625601	74625601	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accttgtcctgctcctccggCggtgcctggttggcctcctt	1	13	11	16	2	0	0	0	0	0	0	4	0	4	0	7	4	2	2	7	4	0	3			TCGA-SU-A7E7-01A-22D-A33T-08	TCGA-SU-A7E7-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0c3acfc-b0cc-41e0-833d-928662350c68	a31e4ea8-9af6-4430-845c-9eef051c1179	g.chr17:74625601C>T	ENST00000156626.7	-	2	523	c.324G>A	c.(322-324)ccG>ccA	p.P108P	ST6GALNAC1_ENST00000590878.1_5'UTR	NM_018414.3	NP_060884.1	Q9NSC7	SIA7A_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 1	108					oligosaccharide biosynthetic process (GO:0009312)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase activity (GO:0001665)|sialyltransferase activity (GO:0008373)			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	22						GCTCCTCCGGCGGTGCCTGGT	0.587																																						ENST00000156626.7																			0				breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	22						c.(322-324)ccG>ccA		ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 1							128	117	121					17																	74625601		2203	4300	6503	SO:0001819	synonymous_variant	55808				protein glycosylation	integral to Golgi membrane	alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase activity	g.chr17:74625601C>T	Y11339	CCDS11748.1	17q25.3	2013-03-01	2005-02-07	2005-02-07	ENSG00000070526	ENSG00000070526		"Sialyltransferases"	23614	protein-coding gene	gene with protein product		610138	"sialyltransferase 7 ((alpha-N-acetylneuraminyl-2,3-beta-galactosyl-1,3)-N-acetyl galactosaminide alpha-2,6-sialyltransferase) A"	SIAT7A			Standard	NM_001289107		Approved	ST6GalNAcI	uc002jsh.3	Q9NSC7	OTTHUMG00000180369	ENST00000156626.7:c.324G>A	17.37:g.74625601C>T						ST6GALNAC1_ENST00000590878.1_5'UTR	p.P108P	NM_018414.3	NP_060884.1	Q9NSC7	SIA7A_HUMAN			2	523	-			108					Q6UW90|Q9NSC6	Silent	SNP	ENST00000156626.7	37	c.324G>A	CCDS11748.1																																																																																				0.587	ST6GALNAC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450974.1	NM_018414		8	75	0	0	0	1	0	8	75					T	74625601	C	T	74625601	2	4	364	1	0	0	0	0	0	0	0	1	15222	755	27	1		1	ST6GALNAC1	17	74625601	Silent	SNP	C	TCGA-SU-A7E7-01A-22D-A33T-08	54516421	74625601	6569609	28	18188											
ZNF823	55552	broad.mit.edu	37	chr19	11832577	11832577	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aggaacggagagaactcaatGctttcccacattccttacat	13	10	7	11	1	1	1	1	0	0	1	3	4	3	3	2	2	4	1	2	2	4	3			TCGA-SU-A7E7-01A-22D-A33T-08	TCGA-SU-A7E7-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0c3acfc-b0cc-41e0-833d-928662350c68	a31e4ea8-9af6-4430-845c-9eef051c1179	g.chr19:11832577G>T	ENST00000341191.6	-	4	1925	c.1772C>A	c.(1771-1773)gCa>gAa	p.A591E	ZNF823_ENST00000545749.1_Missense_Mutation_p.A409E	NM_001080493.2	NP_001073962.1	P16415	ZN823_HUMAN	zinc finger protein 823	591					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)	26						AGAACTCAATGCTTTCCCACA	0.403										HNSCC(68;0.2)																												ENST00000341191.6																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)	26						c.(1771-1773)gCa>gAa		zinc finger protein 823							85	86	86					19																	11832577		2203	4300	6503	SO:0001583	missense	55552				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:11832577G>T	X51760	CCDS45981.1	19p13.2	2013-01-08			ENSG00000197933	ENSG00000197933		"Zinc fingers, C2H2-type", "-"	30936	protein-coding gene	gene with protein product	"ZFP 36 for a zinc finger protein"						Standard	XM_006722789		Approved	HSZFP36	uc002msm.2	P16415	OTTHUMG00000156528	ENST00000341191.6:c.1772C>A	19.37:g.11832577G>T	ENSP00000340683:p.Ala591Glu	HNSCC(68;0.2)				ZNF823_ENST00000545749.1_Missense_Mutation_p.A409E	p.A591E	NM_001080493.2	NP_001073962.1	P16415	ZN823_HUMAN			4	1925	-			591					A0PJL4|B7Z8D4|Q6P4A9	Missense_Mutation	SNP	ENST00000341191.6	37	c.1772C>A	CCDS45981.1	.	.	.	.	.	.	.	.	.	.	-	12.17	1.857163	0.32791	.	.	ENSG00000197933	ENST00000545749;ENST00000341191	T;T	0.19669	2.13;2.13	0.672	0.672	0.17935	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.29288	0.0729	L	0.52266	1.64	0.09310	N	1	P	0.52170	0.951	P	0.56434	0.798	T	0.10177	-1.0641	9	0.87932	D	0	.	6.098	0.20031	0.0:0.3251:0.6748:0.0	.	591	P16415	ZN823_HUMAN	E	409;591	ENSP00000440162:A409E;ENSP00000340683:A591E	ENSP00000340683:A591E	A	-	2	0	ZNF823	11693577	0.000000	0.05858	0.002000	0.10522	0.335000	0.28730	-0.048000	0.11944	0.623000	0.30267	0.305000	0.20034	GCA		0.403	ZNF823-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344516.2	NM_001080493		4	75	1	0	0.00024832	1	0.00024832	4	75					T	11832577	G	T	11832577	3	4	364	1	0	0	0	0	1	0	0	0	18176	1319	46	5	64	5	ZNF823	19	11832577	Missense_Mutation	SNP	G	TCGA-SU-A7E7-01A-22D-A33T-08		11832577	47296406	29	18189											
DMRTC2	63946	broad.mit.edu	37	chr19	42351581	42351581	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccagagacccccagagcacaGagctgatccccaggagagcc	12	2	11	16	0	0	5	0	1	0	4	1	7	1	5	6	1	3	2	6	1	0	0			TCGA-SU-A7E7-01A-22D-A33T-08	TCGA-SU-A7E7-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0c3acfc-b0cc-41e0-833d-928662350c68	a31e4ea8-9af6-4430-845c-9eef051c1179	g.chr19:42351581G>C	ENST00000269945.3	+	2	136	c.85G>C	c.(85-87)Gag>Cag	p.E29Q	LYPD4_ENST00000601246.1_5'Flank|DMRTC2_ENST00000596827.1_Missense_Mutation_p.E29Q|LYPD4_ENST00000330743.3_5'Flank|DMRTC2_ENST00000602098.1_3'UTR	NM_001040283.1	NP_001035373.1	Q8IXT2	DMRTD_HUMAN	DMRT-like family C2	29					male meiosis I (GO:0007141)|positive regulation of histone H3-K9 dimethylation (GO:1900111)|positive regulation of histone H3-K9 trimethylation (GO:1900114)|sex differentiation (GO:0007548)|spermatid nucleus elongation (GO:0007290)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|XY body (GO:0001741)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	10						CCAGAGCACAGAGCTGATCCC	0.637																																						ENST00000269945.3																			0				endometrium(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	10						c.(85-87)Gag>Cag		DMRT-like family C2							81	81	81					19																	42351581		2203	4300	6503	SO:0001583	missense	63946				cell differentiation|sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity	g.chr19:42351581G>C	AJ291669	CCDS33034.1	19q13.2	2008-07-16				ENSG00000142025			13911	protein-coding gene	gene with protein product		614806				11863363	Standard	NM_001040283		Approved		uc002ors.3	Q8IXT2		ENST00000269945.3:c.85G>C	19.37:g.42351581G>C	ENSP00000269945:p.Glu29Gln					DMRTC2_ENST00000596827.1_Missense_Mutation_p.E29Q|DMRTC2_ENST00000602098.1_3'UTR	p.E29Q	NM_001040283.1	NP_001035373.1	Q8IXT2	DMRTD_HUMAN			2	136	+			29					Q8N6Q2|Q96M39|Q96SD4	Missense_Mutation	SNP	ENST00000269945.3	37	c.85G>C	CCDS33034.1	.	.	.	.	.	.	.	.	.	.	G	15.13	2.743392	0.49151	.	.	ENSG00000142025	ENST00000269945	.	.	.	4.54	3.5	0.40072	.	0.563509	0.14478	N	0.317122	T	0.49133	0.1539	L	0.36672	1.1	0.20196	N	0.99993	D;D	0.63880	0.993;0.963	D;P	0.72982	0.979;0.527	T	0.21177	-1.0253	9	0.46703	T	0.11	-9.7816	7.5654	0.27876	0.1133:0.0:0.8867:0.0	.	29;29	B4DX56;Q8IXT2	.;DMRTD_HUMAN	Q	29	.	ENSP00000269945:E29Q	E	+	1	0	DMRTC2	47043421	0.998000	0.40836	0.795000	0.32087	0.335000	0.28730	4.055000	0.57441	2.472000	0.83506	0.561000	0.74099	GAG		0.637	DMRTC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463045.1	NM_001040283		15	138	0	0	0	1	0	15	138					C	42351581	G	C	42351581	3	2	364	1	0	0	0	0	1	0	0	0	4591	943	33	5	87	5	DMRTC2	19	42351581	Missense_Mutation	SNP	G	TCGA-SU-A7E7-01A-22D-A33T-08	30519004	42351581	16777402	30	18190											
PRIC285	85441	broad.mit.edu	37	chr20	62203693	62203693	+	Frame_Shift_Del	DEL	C	C	-																															ggcagggggtgtgagcaggtCcccccgctggaggccaccca																										TCGA-SU-A7E7-01A-22D-A33T-08	TCGA-SU-A7E7-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0c3acfc-b0cc-41e0-833d-928662350c68	a31e4ea8-9af6-4430-845c-9eef051c1179	g.chr20:62203693delC	ENST00000467148.1	-	1	115	c.46delG	c.(46-48)gacfs	p.D16fs	HELZ2_ENST00000479540.1_5'UTR	NM_001037335.2	NP_001032412.2	Q9BYK8	HELZ2_HUMAN	helicase with zinc finger 2, transcriptional coactivator	16					cellular lipid metabolic process (GO:0044255)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	membrane (GO:0016020)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)										GTGAGCAGGTCCCCCCGCTGG	0.731																																						ENST00000467148.1																			0											c.(46-48)acfs		helicase with zinc finger 2, transcriptional coactivator							7	8	8					20																	62203693		2147	4230	6377	SO:0001589	frameshift_variant	85441							g.chr20:62203693delC	AB201715	CCDS13527.1, CCDS33508.1	20q13.33	2012-09-26			ENSG00000130589	ENSG00000130589			30021	protein-coding gene	gene with protein product	"peroxisomal proliferator activated receptor A interacting complex 285", "PPARG-DBD-interacting protein 1"	611265				11214970, 12189208, 16239304	Standard	NM_001037335		Approved	PDIP1, PRIC285, KIAA1769	uc002yfm.2	Q9BYK8	OTTHUMG00000032969	ENST00000467148.1:c.46delG	20.37:g.62203693delC	ENSP00000417401:p.Asp16fs					HELZ2_ENST00000479540.1_5'UTR	p.D16fs	NM_001037335.2	NP_001032412.2					1	115	-								Q3C2G2|Q4VXQ1|Q8TEF3|Q96ND3|Q9C094	Frame_Shift_Del	DEL	ENST00000467148.1	37	c.46delG	CCDS33508.1																																																																																				0.731	HELZ2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354127.1	NM_001037335		2	4						2	4	---	---	---	---	-	62203693	C	-	62203693	7	5	364	1	0	1	0	1	0	0	0	0	12485	855	30	0	8002	0	PRIC285	20	62203693	Frame_Shift_Del	DEL	C	TCGA-SU-A7E7-01A-22D-A33T-08		62203693	821827	31	18191											
FAM47B	170062	broad.mit.edu	37	chrX	34960974	34960974	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggaccggaggccacaggaccGgccaaggtcccaaggcatgg	10	2	16	13	2	0	0	0	0	0	0	1	3	1	3	5	8	0	1	5	8	2	0			TCGA-SU-A7E7-01A-22D-A33T-08	TCGA-SU-A7E7-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0c3acfc-b0cc-41e0-833d-928662350c68	a31e4ea8-9af6-4430-845c-9eef051c1179	g.chrX:34960974G>A	ENST00000329357.5	+	1	62	c.26G>A	c.(25-27)cGg>cAg	p.R9Q		NM_152631.2	NP_689844.2	Q8NA70	FA47B_HUMAN	family with sequence similarity 47, member B	9										breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	71						CCACAGGACCGGCCAAGGTCC	0.627																																						ENST00000329357.5																			0				breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	71						c.(25-27)cGg>cAg		family with sequence similarity 47, member B							25	21	22					X																	34960974		2202	4299	6501	SO:0001583	missense	170062							g.chrX:34960974G>A	BC035026	CCDS14236.1	Xp21.1	2004-08-09			ENSG00000189132	ENSG00000189132			26659	protein-coding gene	gene with protein product						14702039	Standard	NM_152631		Approved	FLJ35782	uc004ddi.2	Q8NA70	OTTHUMG00000021345	ENST00000329357.5:c.26G>A	X.37:g.34960974G>A	ENSP00000328307:p.Arg9Gln						p.R9Q	NM_152631.2	NP_689844.2	Q8NA70	FA47B_HUMAN			1	62	+			9					Q5JQN5|Q6PIG3	Missense_Mutation	SNP	ENST00000329357.5	37	c.26G>A	CCDS14236.1	.	.	.	.	.	.	.	.	.	.	G	4.064	0.009606	0.07912	.	.	ENSG00000189132	ENST00000329357	T	0.20598	2.06	0.843	-0.217	0.13149	.	.	.	.	.	T	0.11537	0.0281	L	0.38838	1.175	0.09310	N	1	B	0.33494	0.414	B	0.18263	0.021	T	0.20874	-1.0262	8	0.32370	T	0.25	.	.	.	.	.	9	Q8NA70	FA47B_HUMAN	Q	9	ENSP00000328307:R9Q	ENSP00000328307:R9Q	R	+	2	0	FAM47B	34870895	0.002000	0.14202	0.013000	0.15412	0.020000	0.10135	0.364000	0.20325	-0.147000	0.11254	0.292000	0.19580	CGG		0.627	FAM47B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056211.1	NM_152631		5	13	0	0	0	1	0	5	13					A	34960974	G	A	34960974	3	1	364	1	0	0	0	0	1	0	0	0	5570	1116	39	2	28	2	FAM47B	23	34960974	Missense_Mutation	SNP	G	TCGA-SU-A7E7-01A-22D-A33T-08		34960974	120309586	32	18192											
MAGEC1	9947	broad.mit.edu	37	chrX	140995225	140995225	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cccaatctcctctccagagtCctgagagtgctcctgagggg	7	9	11	14	0	2	3	0	2	2	2	6	4	4	3	5	2	1	1	5	2	1	0			TCGA-SU-A7E7-01A-22D-A33T-08	TCGA-SU-A7E7-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0c3acfc-b0cc-41e0-833d-928662350c68	a31e4ea8-9af6-4430-845c-9eef051c1179	g.chrX:140995225C>A	ENST00000285879.4	+	4	2321	c.2035C>A	c.(2035-2037)Cct>Act	p.P679T	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	679										breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					TCTCCAGAGTCCTGAGAGTGC	0.562										HNSCC(15;0.026)																												ENST00000285879.4																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127						c.(2035-2037)Cct>Act		melanoma antigen family C, 1							71	74	73					X																	140995225		2202	4300	6502	SO:0001583	missense	9947						protein binding	g.chrX:140995225C>A	AF064589	CCDS35417.1	Xq26	2009-03-18			ENSG00000155495	ENSG00000155495			6812	protein-coding gene	gene with protein product	"cancer/testis antigen family 7, member 1"	300223				9485030, 9618514	Standard	NM_005462		Approved	MAGE-C1, CT7, MGC39366, CT7.1	uc004fbt.3	O60732	OTTHUMG00000022569	ENST00000285879.4:c.2035C>A	X.37:g.140995225C>A	ENSP00000285879:p.Pro679Thr	HNSCC(15;0.026)				MAGEC1_ENST00000406005.2_Intron	p.P679T	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN			4	2321	+	Acute lymphoblastic leukemia(192;6.56e-05)		679					A0PK03|O75451|Q8TCV4	Missense_Mutation	SNP	ENST00000285879.4	37	c.2035C>A	CCDS35417.1	.	.	.	.	.	.	.	.	.	.	c	8.243	0.807357	0.16467	.	.	ENSG00000155495	ENST00000285879	T	0.04917	3.53	0.901	-0.382	0.12481	.	.	.	.	.	T	0.03827	0.0108	N	0.14661	0.345	0.39271	D	0.964389	P	0.51933	0.949	P	0.44394	0.448	T	0.54207	-0.8328	9	0.52906	T	0.07	.	4.3326	0.11071	0.0:0.676:0.0:0.324	.	679	O60732	MAGC1_HUMAN	T	679	ENSP00000285879:P679T	ENSP00000285879:P679T	P	+	1	0	MAGEC1	140822891	0.000000	0.05858	0.006000	0.13384	0.006000	0.05464	-0.835000	0.04386	0.158000	0.19367	0.160000	0.16472	CCT		0.562	MAGEC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058604.1	NM_005462		34	69	1	0	1.26612e-14	1	1.42844e-14	34	69					A	140995225	C	A	140995225	3	1	364	1	0	0	0	0	1	0	0	0	9180	855	30	5	2041	5	MAGEC1	23	140995225	Missense_Mutation	SNP	C	TCGA-SU-A7E7-01A-22D-A33T-08	106034251	140995225	14275335	33	18193											
AJAP1	55966	broad.mit.edu	37	chr1	4832547	4832547	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	accgatgagacgctgcactcGacgacgggggagtacaaatc	12	5	13	11	5	0	1	0	1	0	1	2	6	0	2	1	2	2	3	1	2	2	1			TCGA-TK-A8OK-01A-22D-A364-08	TCGA-TK-A8OK-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a5f0491-82d8-49de-8420-fa14d8185bdc	577739c4-abfc-466f-9bce-1bbb1f35040b	g.chr1:4832547G>A	ENST00000378191.4	+	4	1506	c.1125G>A	c.(1123-1125)tcG>tcA	p.S375S	AJAP1_ENST00000378190.3_Silent_p.S375S	NM_018836.3	NP_061324.1	Q9UKB5	AJAP1_HUMAN	adherens junctions associated protein 1	375	Targeting signals.				cell adhesion (GO:0007155)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|urinary_tract(1)	24	all_cancers(77;0.071)|Ovarian(185;0.0721)	all_cancers(23;1.77e-36)|all_epithelial(116;1.26e-21)|all_lung(118;3.51e-08)|Lung NSC(185;3.47e-06)|all_neural(13;8.84e-06)|all_hematologic(16;7.61e-05)|Breast(487;0.000507)|Renal(390;0.0007)|Colorectal(325;0.00117)|Hepatocellular(190;0.0071)|Glioma(11;0.0155)|Myeloproliferative disorder(586;0.0258)|Ovarian(437;0.0409)|Lung SC(97;0.133)|Medulloblastoma(700;0.215)		Epithelial(90;3.89e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.97e-19)|GBM - Glioblastoma multiforme(42;3.71e-19)|Colorectal(212;4.57e-06)|COAD - Colon adenocarcinoma(227;0.00019)|Kidney(185;0.000969)|BRCA - Breast invasive adenocarcinoma(365;0.00122)|STAD - Stomach adenocarcinoma(132;0.00578)|KIRC - Kidney renal clear cell carcinoma(229;0.0126)|READ - Rectum adenocarcinoma(331;0.0689)		CGCTGCACTCGACGACGGGGG	0.582																																						ENST00000378191.4																			0				endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|urinary_tract(1)	24						c.(1123-1125)tcG>tcA		adherens junctions associated protein 1							54	52	53					1																	4832547		2203	4300	6503	SO:0001819	synonymous_variant	55966				cell adhesion	adherens junction|apical plasma membrane|basolateral plasma membrane|integral to membrane		g.chr1:4832547G>A	AF175409	CCDS54.1	1p36.32	2008-02-05	2008-01-08		ENSG00000196581	ENSG00000196581			30801	protein-coding gene	gene with protein product	"transmembrane protein SHREW1"	610972				14595118	Standard	NM_001042478		Approved	SHREW1, SHREW-1, MOT8	uc001aln.3	Q9UKB5	OTTHUMG00000000645	ENST00000378191.4:c.1125G>A	1.37:g.4832547G>A						AJAP1_ENST00000378190.3_Silent_p.S375S	p.S375S	NM_018836.3	NP_061324.1	Q9UKB5	AJAP1_HUMAN		Epithelial(90;3.89e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.97e-19)|GBM - Glioblastoma multiforme(42;3.71e-19)|Colorectal(212;4.57e-06)|COAD - Colon adenocarcinoma(227;0.00019)|Kidney(185;0.000969)|BRCA - Breast invasive adenocarcinoma(365;0.00122)|STAD - Stomach adenocarcinoma(132;0.00578)|KIRC - Kidney renal clear cell carcinoma(229;0.0126)|READ - Rectum adenocarcinoma(331;0.0689)	4	1506	+	all_cancers(77;0.071)|Ovarian(185;0.0721)	all_cancers(23;1.77e-36)|all_epithelial(116;1.26e-21)|all_lung(118;3.51e-08)|Lung NSC(185;3.47e-06)|all_neural(13;8.84e-06)|all_hematologic(16;7.61e-05)|Breast(487;0.000507)|Renal(390;0.0007)|Colorectal(325;0.00117)|Hepatocellular(190;0.0071)|Glioma(11;0.0155)|Myeloproliferative disorder(586;0.0258)|Ovarian(437;0.0409)|Lung SC(97;0.133)|Medulloblastoma(700;0.215)	375			Targeting signals.		Q9Y229	Silent	SNP	ENST00000378191.4	37	c.1125G>A	CCDS54.1																																																																																				0.582	AJAP1-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001542.3	NM_018836		13	20	0	0	0	1	0	13	20					A	4832547	G	A	4832547	2	1	365	1	0	0	0	0	0	0	0	1	438	1045	37	2		2	AJAP1	1	4832547	Silent	SNP	G	TCGA-TK-A8OK-01A-22D-A364-08		4832547	244418074	1	18194											
INADL	10207	broad.mit.edu	37	chr1	62257043	62257043	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agttctctttttgaaacttaTaatgttgagcttgtgagaaa	12	17	8	4	0	1	3	0	3	1	1	2	4	1	3	0	0	2	3	0	0	4	7	rs200802733		TCGA-TK-A8OK-01A-22D-A364-08	TCGA-TK-A8OK-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a5f0491-82d8-49de-8420-fa14d8185bdc	577739c4-abfc-466f-9bce-1bbb1f35040b	g.chr1:62257043T>C	ENST00000371158.2	+	9	1206	c.1092T>C	c.(1090-1092)taT>taC	p.Y364Y	INADL_ENST00000316485.6_Silent_p.Y364Y	NM_176877.2	NP_795352	Q8NI35	INADL_HUMAN	InaD-like (Drosophila)	364					cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|intracellular signal transduction (GO:0035556)|tight junction assembly (GO:0070830)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|tight junction (GO:0005923)				breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)	103						TTGAAACTTATAATGTTGAGC	0.323																																						ENST00000371158.2																			0				breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)	103						c.(1090-1092)taT>taC		InaD-like (Drosophila)							97	102	100					1																	62257043		2203	4300	6503	SO:0001819	synonymous_variant	10207				intracellular signal transduction|tight junction assembly	apical plasma membrane|perinuclear region of cytoplasm|tight junction	protein binding	g.chr1:62257043T>C	AB044807	CCDS617.2	1p31	2008-02-05			ENSG00000132849	ENSG00000132849			28881	protein-coding gene	gene with protein product		603199				9280290, 11374908	Standard	NM_176877		Approved	Cipp, PATJ	uc001dab.3	Q8NI35	OTTHUMG00000008560	ENST00000371158.2:c.1092T>C	1.37:g.62257043T>C						INADL_ENST00000316485.6_Silent_p.Y364Y	p.Y364Y	NM_176877.2	NP_795352.2	Q8NI35	INADL_HUMAN			9	1206	+			364					O15249|O43742|O60833|Q5VUA5|Q5VUA6|Q5VUA7|Q5VUA8|Q5VUA9|Q5VUB0|Q8WU78|Q9H3N9	Silent	SNP	ENST00000371158.2	37	c.1092T>C	CCDS617.2																																																																																				0.323	INADL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023639.2	NM_170605		19	34	0	0	0	1	0	19	34					C	62257043	T	C	62257043	2	2	365	1	0	0	0	0	0	0	0	1	7731	1413	49	4		4	INADL	1	62257043	Silent	SNP	T	TCGA-TK-A8OK-01A-22D-A364-08	57424496	62257043	186993578	2	18195											
RSBN1	54665	broad.mit.edu	37	chr1	114309020	114309020	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aaagctgaattctagcataaCgaatgccttcccgcctcatt	12	11	6	12	2	2	1	1	1	1	0	3	2	3	1	3	0	4	2	3	0	5	5			TCGA-TK-A8OK-01A-22D-A364-08	TCGA-TK-A8OK-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a5f0491-82d8-49de-8420-fa14d8185bdc	577739c4-abfc-466f-9bce-1bbb1f35040b	g.chr1:114309020C>T	ENST00000261441.5	-	7	2054	c.1991G>A	c.(1990-1992)cGt>cAt	p.R664H	RSBN1_ENST00000369581.2_5'UTR	NM_018364.3	NP_060834.2	Q5VWQ0	RSBN1_HUMAN	round spermatid basic protein 1	664						nucleus (GO:0005634)		p.R664H(1)		breast(1)|endometrium(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(3)|urinary_tract(2)	29	Lung SC(450;0.184)	all_cancers(81;3.78e-08)|all_epithelial(167;5.56e-08)|all_lung(203;6.97e-06)|Lung NSC(69;1.18e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TCTAGCATAACGAATGCCTTC	0.398																																						ENST00000261441.5																			1	Substitution - Missense(1)	p.R664H(1)	large_intestine(1)	breast(1)|endometrium(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(3)|urinary_tract(2)	29						c.(1990-1992)cGt>cAt		round spermatid basic protein 1							77	71	73					1																	114309020		2203	4299	6502	SO:0001583	missense	54665					nucleus		g.chr1:114309020C>T	AK002082	CCDS862.1	1p13.1	2008-02-05			ENSG00000081019	ENSG00000081019			25642	protein-coding gene	gene with protein product		615858				12477932	Standard	NM_018364		Approved	FLJ11220, ROSBIN	uc001edq.3	Q5VWQ0	OTTHUMG00000011938	ENST00000261441.5:c.1991G>A	1.37:g.114309020C>T	ENSP00000261441:p.Arg664His					RSBN1_ENST00000369581.2_5'UTR	p.R664H	NM_018364.3	NP_060834.2	Q5VWQ0	RSBN1_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	7	2054	-	Lung SC(450;0.184)	all_cancers(81;3.78e-08)|all_epithelial(167;5.56e-08)|all_lung(203;6.97e-06)|Lung NSC(69;1.18e-05)	664					A8K937|Q6AI21|Q8TC33|Q9HA80|Q9NUP6	Missense_Mutation	SNP	ENST00000261441.5	37	c.1991G>A	CCDS862.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.042533	0.75732	.	.	ENSG00000081019	ENST00000261441	.	.	.	5.56	5.56	0.83823	.	0.000000	0.85682	D	0.000000	T	0.55657	0.1934	M	0.75615	2.305	0.80722	D	1	P	0.36125	0.538	B	0.32211	0.142	T	0.65393	-0.6179	9	0.87932	D	0	-8.6133	19.8965	0.96963	0.0:1.0:0.0:0.0	.	664	Q5VWQ0	RSBN1_HUMAN	H	664	.	ENSP00000261441:R664H	R	-	2	0	RSBN1	114110543	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	6.039000	0.70972	2.771000	0.95319	0.563000	0.77884	CGT		0.398	RSBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033022.2	NM_018364		17	58	0	0	0	1	0	17	58					T	114309020	C	T	114309020	3	4	365	1	0	0	0	0	1	0	0	0	13696	536	19	1	421	1	RSBN1	1	114309020	Missense_Mutation	SNP	C	TCGA-TK-A8OK-01A-22D-A364-08	52051977	114309020	134941601	3	18196											
CELF3	11189	broad.mit.edu	37	chr1	151679766	151679766	+	Frame_Shift_Del	DEL	G	G	-																															gcgatggcaggaggggtgctGgttcctggggaggagaaagc																										TCGA-TK-A8OK-01A-22D-A364-08	TCGA-TK-A8OK-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a5f0491-82d8-49de-8420-fa14d8185bdc	577739c4-abfc-466f-9bce-1bbb1f35040b	g.chr1:151679766delG	ENST00000290583.4	-	8	1570	c.777delC	c.(775-777)accfs	p.T259fs	CELF3_ENST00000392706.3_Frame_Shift_Del_p.T76fs|CELF3_ENST00000470688.1_5'UTR|CELF3_ENST00000290585.4_Intron|RP11-98D18.1_ENST00000457548.1_RNA	NM_001172648.1|NM_007185.4	NP_001166119.1|NP_009116.3	Q5SZQ8	CELF3_HUMAN	CUGBP, Elav-like family member 3	259					mRNA splicing, via spliceosome (GO:0000398)|positive regulation of mRNA splicing, via spliceosome (GO:0048026)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing (GO:0008380)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)	21						GAGGGGTGCTGGTTCCTGGGG	0.652																																						ENST00000290583.4																			0				central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)	21						c.(775-777)acfs		CUGBP, Elav-like family member 3							27	23	24					1																	151679766		2186	4291	6477	SO:0001589	frameshift_variant	11189				nuclear mRNA splicing, via spliceosome|regulation of alternative nuclear mRNA splicing, via spliceosome	cytoplasm|nucleus	mRNA binding|nucleotide binding	g.chr1:151679766delG	U80759	CCDS1002.1, CCDS53367.1	1q21	2013-02-12	2010-02-19	2010-02-19	ENSG00000159409	ENSG00000159409		"Trinucleotide (CAG) repeat containing", "RNA binding motif (RRM) containing"	11967	protein-coding gene	gene with protein product	"expanded repeat domain, CAG/CTG 4", "CAG repeat domain", "CUG-BP and ETR-3 like factor 3"	612678	"trinucleotide repeat containing 4"	TNRC4		9225980	Standard	XM_005244859		Approved	CAGH4, BRUNOL1, ERDA4, MGC57297	uc001eys.2	Q5SZQ8	OTTHUMG00000013064	ENST00000290583.4:c.777delC	1.37:g.151679766delG	ENSP00000290583:p.Thr259fs					CELF3_ENST00000470688.1_5'UTR|RP11-98D18.1_ENST00000457548.1_RNA|CELF3_ENST00000290585.4_Intron|CELF3_ENST00000392706.3_Frame_Shift_Del_p.T76fs	p.T259fs	NM_001172648.1|NM_007185.4	NP_001166119.1|NP_009116.3	Q5SZQ8	CELF3_HUMAN			8	1570	-			259					B7ZKK6|O15414|Q499Y6|Q5SZQ7|Q6NVK0|Q8IZ98|Q9BZC2|Q9HB30	Frame_Shift_Del	DEL	ENST00000290583.4	37	c.777delC	CCDS1002.1																																																																																				0.652	CELF3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000036663.2	NM_007185		2	4						2	4	---	---	---	---	-	151679766	G	-	151679766	7	5	365	1	0	1	0	1	0	0	0	0	3217	1335	47	0	640	0	CELF3	1	151679766	Frame_Shift_Del	DEL	G	TCGA-TK-A8OK-01A-22D-A364-08	37370746	151679766	97570855	4	18197											
HMCN1	83872	broad.mit.edu	37	chr1	186024595	186024595	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acccgagggaagagtatctcCttggagtgtgaggtgcaggg	9	8	17	7	1	1	2	0	1	1	1	2	5	1	4	2	4	1	2	2	4	2	2			TCGA-TK-A8OK-01A-22D-A364-08	TCGA-TK-A8OK-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a5f0491-82d8-49de-8420-fa14d8185bdc	577739c4-abfc-466f-9bce-1bbb1f35040b	g.chr1:186024595C>T	ENST00000271588.4	+	45	7162	c.6933C>T	c.(6931-6933)tcC>tcT	p.S2311S	HMCN1_ENST00000367492.2_Silent_p.S2311S	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	2311	Ig-like C2-type 21.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						AGAGTATCTCCTTGGAGTGTG	0.478																																						ENST00000271588.4																			0				NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						c.(6931-6933)tcC>tcT		hemicentin 1							91	85	87					1																	186024595		2203	4300	6503	SO:0001819	synonymous_variant	83872				response to stimulus|visual perception	basement membrane	calcium ion binding	g.chr1:186024595C>T	AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"Fibulins", "Immunoglobulin superfamily / I-set domain containing"	19194	protein-coding gene	gene with protein product	"fibulin 6"	608548	"age-related macular degeneration 1 (senile macular degeneration)"	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.6933C>T	1.37:g.186024595C>T						HMCN1_ENST00000367492.2_Silent_p.S2311S	p.S2311S	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN			45	7162	+			2311			Ig-like C2-type 21.		A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Silent	SNP	ENST00000271588.4	37	c.6933C>T	CCDS30956.1																																																																																				0.478	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935		10	37	0	0	0	1	0	10	37					T	186024595	C	T	186024595	2	4	365	1	0	0	0	0	0	0	0	1	7220	668	24	3		3	HMCN1	1	186024595	Silent	SNP	C	TCGA-TK-A8OK-01A-22D-A364-08	34344829	186024595	63226026	5	18198											
CFHR1	3078	broad.mit.edu	37	chr1	196794779	196794779	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	acatgcacagaagaaggatgGtcaccaacaccaaagtgtct	16	6	9	10	0	2	2	1	0	1	2	2	3	2	3	2	2	2	1	2	2	4	0			TCGA-TK-A8OK-01A-22D-A364-08	TCGA-TK-A8OK-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a5f0491-82d8-49de-8420-fa14d8185bdc	577739c4-abfc-466f-9bce-1bbb1f35040b	g.chr1:196794779G>T	ENST00000320493.5	+	2	319	c.231G>T	c.(229-231)tgG>tgT	p.W77C	CFHR2_ENST00000367421.3_Intron|CFHR1_ENST00000367424.4_Missense_Mutation_p.W77C	NM_002113.2	NP_002104.2	Q03591	FHR1_HUMAN	complement factor H-related 1	77	Sushi 1. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation (GO:0006956)	blood microparticle (GO:0072562)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				NS(1)|kidney(1)|large_intestine(2)|lung(7)	11						AAGAAGGATGGTCACCAACAC	0.388																																						ENST00000320493.5																			0				NS(1)|kidney(1)|large_intestine(2)|lung(7)	11						c.(229-231)tgG>tgT		complement factor H-related 1							72	72	72					1																	196794779		1873	4113	5986	SO:0001583	missense	3078				complement activation	extracellular space		g.chr1:196794779G>T	M65292	CCDS1386.1	1q32	2014-09-17	2004-08-09	2006-02-28	ENSG00000244414	ENSG00000244414		"Complement system"	4888	protein-coding gene	gene with protein product		134371	"H factor (complement)-like 1", "complement factor H-related 1 pseudogene", "H factor (complement)-like 2"	HFL1, CFHL1, CFHR1P, HFL2, CFHL1P		1711047, 1826708	Standard	NM_002113		Approved	H36-1, FHR1, CFHL, H36-2		Q03591	OTTHUMG00000036276	ENST00000320493.5:c.231G>T	1.37:g.196794779G>T	ENSP00000314299:p.Trp77Cys					CFHR1_ENST00000367424.3_Missense_Mutation_p.W77C|CFHR1_ENST00000498248.1_3'UTR|CFHR2_ENST00000367421.3_Intron	p.W77C	NM_002113.2	NP_002104.2	Q03591	FHR1_HUMAN			2	319	+			77			Sushi 1.		A8K465|Q3B774|Q9UJ17	Missense_Mutation	SNP	ENST00000320493.5	37	c.231G>T	CCDS1386.1	.	.	.	.	.	.	.	.	.	.	.	22.9	4.355367	0.82243	.	.	ENSG00000244414	ENST00000367424;ENST00000320493	D;D	0.88509	-2.39;-2.39	4.18	4.18	0.49190	Complement control module (2);Sushi/SCR/CCP (2);	.	.	.	.	D	0.94637	0.8271	M	0.89287	3.02	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.95228	0.8340	9	0.87932	D	0	.	12.0231	0.53354	0.0:0.0:1.0:0.0	.	77	Q03591	FHR1_HUMAN	C	77	ENSP00000356394:W77C;ENSP00000314299:W77C	ENSP00000314299:W77C	W	+	3	0	CFHR1	195061402	0.997000	0.39634	0.956000	0.39512	0.990000	0.78478	2.134000	0.42102	1.882000	0.54519	0.430000	0.28490	TGG		0.388	CFHR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088251.2	NM_002113		13	50	1	0	2.5808e-16	1	2.62454e-16	13	50					T	196794779	G	T	196794779	3	4	365	1	0	0	0	0	1	0	0	0	3284	1270	44	5	237	5	CFHR1	1	196794779	Missense_Mutation	SNP	G	TCGA-TK-A8OK-01A-22D-A364-08	10770184	196794779	52455842	6	18199											
OBSCN	84033	broad.mit.edu	37	chr1	228444396	228444396	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agcagccagtgcacagggagGtgcaggcccaggcgggggcc	8	2	19	12	1	0	0	0	0	0	0	0	1	0	1	3	6	4	3	3	6	0	0			TCGA-TK-A8OK-01A-22D-A364-08	TCGA-TK-A8OK-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a5f0491-82d8-49de-8420-fa14d8185bdc	577739c4-abfc-466f-9bce-1bbb1f35040b	g.chr1:228444396G>T	ENST00000422127.1	+	15	4398	c.4354G>T	c.(4354-4356)Gtg>Ttg	p.V1452L	OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000359599.6_Missense_Mutation_p.V16L|OBSCN_ENST00000570156.2_Missense_Mutation_p.V1544L|OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000284548.11_Missense_Mutation_p.V1452L	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	1452	Ig-like 15.				apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GCACAGGGAGGTGCAGGCCCA	0.617																																						ENST00000570156.2																			0				NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223						c.(4630-4632)Gtg>Ttg		obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF							44	46	45					1																	228444396		2053	4189	6242	SO:0001583	missense	84033				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	g.chr1:228444396G>T	AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"Rho guanine nucleotide exchange factors", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.4354G>T	1.37:g.228444396G>T	ENSP00000409493:p.Val1452Leu					OBSCN_ENST00000422127.1_Missense_Mutation_p.V1452L|OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000359599.6_Missense_Mutation_p.V16L|OBSCN_ENST00000284548.11_Missense_Mutation_p.V1452L	p.V1544L	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN			16	4704	+		Prostate(94;0.0405)	521			Ig-like 16.		Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Missense_Mutation	SNP	ENST00000422127.1	37	c.4630G>T	CCDS58065.1	.	.	.	.	.	.	.	.	.	.	.	15.56	2.868316	0.51588	.	.	ENSG00000154358	ENST00000284548;ENST00000422127;ENST00000359599	T;T;T	0.69561	-0.41;-0.41;-0.41	4.7	4.7	0.59300	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.181728	0.35179	N	0.003392	T	0.64940	0.2644	L	0.53617	1.68	0.80722	D	1	B;P	0.40638	0.011;0.725	B;B	0.41374	0.022;0.355	T	0.64110	-0.6484	10	0.26408	T	0.33	.	17.6128	0.88059	0.0:0.0:1.0:0.0	.	1452;1452	Q5VST9;Q5VST9-3	OBSCN_HUMAN;.	L	1452;1452;16	ENSP00000284548:V1452L;ENSP00000409493:V1452L;ENSP00000352613:V16L	ENSP00000284548:V1452L	V	+	1	0	OBSCN	226511019	1.000000	0.71417	0.964000	0.40570	0.105000	0.19272	4.030000	0.57260	2.157000	0.67596	0.491000	0.48974	GTG		0.617	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843		15	45	1	0	1.15088e-07	1	1.15088e-07	15	45					T	228444396	G	T	228444396	3	4	365	1	0	0	0	0	1	0	0	0	10812	1261	44	5	4408	5	OBSCN	1	228444396	Missense_Mutation	SNP	G	TCGA-TK-A8OK-01A-22D-A364-08	31649617	228444396	20806225	7	18200											
KCNS3	3790	broad.mit.edu	37	chr2	18112559	18112559	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcatgtcatggaggagctgtGcgtattctcattctgccagg	7	12	13	9	1	3	0	2	0	2	0	4	2	3	2	1	3	3	3	1	3	1	3			TCGA-TK-A8OK-01A-22D-A364-08	TCGA-TK-A8OK-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a5f0491-82d8-49de-8420-fa14d8185bdc	577739c4-abfc-466f-9bce-1bbb1f35040b	g.chr2:18112559G>A	ENST00000403915.1	+	3	735	c.284G>A	c.(283-285)tGc>tAc	p.C95Y	KCNS3_ENST00000465292.1_Intron|KCNS3_ENST00000304101.4_Missense_Mutation_p.C95Y	NM_001282428.1	NP_001269357.1	Q9BQ31	KCNS3_HUMAN	potassium voltage-gated channel, delayed-rectifier, subfamily S, member 3	95					energy reserve metabolic process (GO:0006112)|potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel regulator activity (GO:0015459)			endometrium(5)|kidney(1)|large_intestine(7)|lung(11)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					GAGGAGCTGTGCGTATTCTCA	0.473																																						ENST00000403915.1																			0				endometrium(5)|kidney(1)|large_intestine(7)|lung(11)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(283-285)tGc>tAc		potassium voltage-gated channel, delayed-rectifier, subfamily S, member 3							119	121	120					2																	18112559		2203	4300	6503	SO:0001583	missense	3790				energy reserve metabolic process|regulation of insulin secretion	Golgi apparatus|voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium channel regulator activity	g.chr2:18112559G>A	AF043472	CCDS1692.1	2p24	2011-07-05			ENSG00000170745	ENSG00000170745		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6302	protein-coding gene	gene with protein product		603888				10484328, 16382104	Standard	NM_002252		Approved	Kv9.3	uc002rcw.3	Q9BQ31	OTTHUMG00000044150	ENST00000403915.1:c.284G>A	2.37:g.18112559G>A	ENSP00000385968:p.Cys95Tyr					KCNS3_ENST00000304101.4_Missense_Mutation_p.C95Y|KCNS3_ENST00000465292.1_Intron	p.C95Y			Q9BQ31	KCNS3_HUMAN			3	735	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)		95					D6W520|O43651|Q4ZFY1|Q96B56	Missense_Mutation	SNP	ENST00000403915.1	37	c.284G>A	CCDS1692.1	.	.	.	.	.	.	.	.	.	.	G	14.87	2.664240	0.47572	.	.	ENSG00000170745	ENST00000403915;ENST00000304101	T;T	0.78126	-1.15;-1.15	5.7	5.7	0.88788	BTB/POZ-like (1);BTB/POZ fold (2);Potassium channel, voltage dependent, Kv, tetramerisation (1);	0.042955	0.85682	N	0.000000	D	0.90297	0.6965	M	0.87328	2.875	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	D	0.90962	0.4813	10	0.87932	D	0	.	20.1982	0.98246	0.0:0.0:1.0:0.0	.	95	Q9BQ31	KCNS3_HUMAN	Y	95	ENSP00000385968:C95Y;ENSP00000305824:C95Y	ENSP00000305824:C95Y	C	+	2	0	KCNS3	17976040	1.000000	0.71417	0.995000	0.50966	0.971000	0.66376	9.813000	0.99286	2.848000	0.98002	0.655000	0.94253	TGC		0.473	KCNS3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323808.1	NM_002252		33	84	0	0	0	1	0	33	84					A	18112559	G	A	18112559	3	1	365	1	0	0	0	0	1	0	0	0	8090	1319	46	3	286	3	KCNS3	2	18112559	Missense_Mutation	SNP	G	TCGA-TK-A8OK-01A-22D-A364-08		18112559	225086814	8	18201											
PSD4	23550	broad.mit.edu	37	chr2	113958986	113958986	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cctaagcggaaccgcaatcaGctgtgaagccagcaccacct	12	5	9	15	2	1	1	1	1	0	0	1	2	1	2	5	1	5	3	5	1	4	1			TCGA-TK-A8OK-01A-22D-A364-08	TCGA-TK-A8OK-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a5f0491-82d8-49de-8420-fa14d8185bdc	577739c4-abfc-466f-9bce-1bbb1f35040b	g.chr2:113958986G>A	ENST00000245796.6	+	17	3360	c.3165G>A	c.(3163-3165)caG>caA	p.Q1055Q	PSD4_ENST00000441564.3_Silent_p.Q1026Q	NM_012455.2	NP_036587.2	Q8NDX1	PSD4_HUMAN	pleckstrin and Sec7 domain containing 4	1055					neuron differentiation (GO:0030182)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|phospholipid binding (GO:0005543)			cervix(1)|endometrium(2)|large_intestine(4)|lung(13)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						ACCGCAATCAGCTGTGAAGCC	0.562																																						ENST00000245796.6																			0				cervix(1)|endometrium(2)|large_intestine(4)|lung(13)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(3163-3165)caG>caA		pleckstrin and Sec7 domain containing 4							84	74	78					2																	113958986		2203	4300	6503	SO:0001819	synonymous_variant	23550				regulation of ARF protein signal transduction	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity	g.chr2:113958986G>A	U63127	CCDS33276.1	2q13	2013-01-10			ENSG00000125637	ENSG00000125637		"Pleckstrin homology (PH) domain containing"	19096	protein-coding gene	gene with protein product		614442				12082148	Standard	XM_005263634		Approved	TIC, EFA6B	uc002tjc.3	Q8NDX1	OTTHUMG00000153339	ENST00000245796.6:c.3165G>A	2.37:g.113958986G>A						PSD4_ENST00000441564.2_Silent_p.Q1026Q	p.Q1055Q	NM_012455.2	NP_036587.2	Q8NDX1	PSD4_HUMAN			17	3360	+			1055					A6NEG7|A8K1Y0|O95621|Q4ZG34|Q6GPH8|Q8IYP4	Silent	SNP	ENST00000245796.6	37	c.3165G>A	CCDS33276.1																																																																																				0.562	PSD4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000330789.1	NM_012455		12	24	0	0	0	1	0	12	24					A	113958986	G	A	113958986	2	1	365	1	0	0	0	0	0	0	0	1	12649	962	34	3		3	PSD4	2	113958986	Silent	SNP	G	TCGA-TK-A8OK-01A-22D-A364-08	95846427	113958986	129240387	9	18202											
ASB18	401036	broad.mit.edu	37	chr2	237172857	237172857	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttggccagttctatcacagcGtccacaggcgtgatttcagt	8	12	10	11	2	3	1	2	1	1	0	4	1	4	1	2	2	1	1	2	2	1	4	rs201818790		TCGA-TK-A8OK-01A-22D-A364-08	TCGA-TK-A8OK-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a5f0491-82d8-49de-8420-fa14d8185bdc	577739c4-abfc-466f-9bce-1bbb1f35040b	g.chr2:237172857G>A	ENST00000409749.3	-	1	131	c.132C>T	c.(130-132)gaC>gaT	p.D44D	AC079135.1_ENST00000415226.1_RNA	NM_212556.2	NP_997721.2	Q6ZVZ8	ASB18_HUMAN	ankyrin repeat and SOCS box containing 18	44					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)					large_intestine(1)|lung(3)|ovary(1)|prostate(1)	6		all_hematologic(139;0.00615)|Renal(207;0.00963)|Breast(86;0.0126)|Acute lymphoblastic leukemia(138;0.0815)		Epithelial(121;2.04e-26)|OV - Ovarian serous cystadenocarcinoma(60;1.47e-11)|BRCA - Breast invasive adenocarcinoma(100;2.88e-05)|Lung(119;0.000383)|LUSC - Lung squamous cell carcinoma(224;0.00644)|GBM - Glioblastoma multiforme(43;0.244)		CTATCACAGCGTCCACAGGCG	0.517													G|||	1	0.000199681	0	0.0014	5008	,	,		19851	0		0	False		,,,				2504	0					ENST00000409749.3																			0				large_intestine(1)|lung(3)|ovary(1)|prostate(1)	6						c.(130-132)gaC>gaT		ankyrin repeat and SOCS box containing 18		G		5,4109		0,5,2052	113	109	110		132	1.9	0.7	2		110	0,8414		0,0,4207	no	coding-synonymous	ASB18	NM_212556.2		0,5,6259	AA,AG,GG		0.0,0.1215,0.0399		44/467	237172857	5,12523	2057	4207	6264	SO:0001819	synonymous_variant	401036				intracellular signal transduction			g.chr2:237172857G>A	AK123854	CCDS46548.1	2q37.2	2013-01-10	2011-01-25		ENSG00000182177	ENSG00000182177		"Ankyrin repeat domain containing"	19770	protein-coding gene	gene with protein product			"ankyrin repeat and SOCS box-containing 18"			12076535	Standard	NM_212556		Approved		uc010znh.2	Q6ZVZ8	OTTHUMG00000153086	ENST00000409749.3:c.132C>T	2.37:g.237172857G>A						AC079135.1_ENST00000415226.1_RNA	p.D44D	NM_212556.2	NP_997721.2	Q6ZVZ8	ASB18_HUMAN		Epithelial(121;2.04e-26)|OV - Ovarian serous cystadenocarcinoma(60;1.47e-11)|BRCA - Breast invasive adenocarcinoma(100;2.88e-05)|Lung(119;0.000383)|LUSC - Lung squamous cell carcinoma(224;0.00644)|GBM - Glioblastoma multiforme(43;0.244)	1	131	-		all_hematologic(139;0.00615)|Renal(207;0.00963)|Breast(86;0.0126)|Acute lymphoblastic leukemia(138;0.0815)	44					B6ZDL7	Silent	SNP	ENST00000409749.3	37	c.132C>T	CCDS46548.1																																																																																				0.517	ASB18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329436.1	NM_212556		4	18	0	0	0	1	0	4	18					A	237172857	G	A	237172857	2	1	365	1	0	0	0	0	0	0	0	1	1022	1136	40	1		1	ASB18	2	237172857	Silent	SNP	G	TCGA-TK-A8OK-01A-22D-A364-08	123213871	237172857	6026516	10	18203											
MED12L	116931	broad.mit.edu	37	chr3	151129183	151129183	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	actccagagcctatccggccGcacattccaaccccgtgcta	9	7	7	18	3	0	1	0	0	0	1	3	1	3	1	7	1	3	2	7	1	3	3			TCGA-TK-A8OK-01A-22D-A364-08	TCGA-TK-A8OK-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a5f0491-82d8-49de-8420-fa14d8185bdc	577739c4-abfc-466f-9bce-1bbb1f35040b	g.chr3:151129183G>A	ENST00000474524.1	+	39	5961	c.5923G>A	c.(5923-5925)Gca>Aca	p.A1975T	MED12L_ENST00000273432.4_Intron	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	1975	Gln-rich.					mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)			NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			CTATCCGGCCGCACATTCCAA	0.572																																						ENST00000474524.1																			0				NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128						c.(5923-5925)Gca>Aca		mediator complex subunit 12-like							93	88	90					3																	151129183		2203	4300	6503	SO:0001583	missense	116931				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex		g.chr3:151129183G>A	AB046855, AF388364	CCDS33876.1	3q25.1	2007-07-30	2007-07-30		ENSG00000144893	ENSG00000144893			16050	protein-coding gene	gene with protein product		611318	"mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)-like"			11524702	Standard	XM_006713487		Approved	KIAA1635, TNRC11L, TRALPUSH, TRALP	uc003eyp.3	Q86YW9	OTTHUMG00000159844	ENST00000474524.1:c.5923G>A	3.37:g.151129183G>A	ENSP00000417235:p.Ala1975Thr					MED12L_ENST00000273432.4_Intron	p.A1975T	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)		39	5961	+			1975			Gln-rich.		Q96PC7|Q96PC8|Q9H9M5|Q9HCD7|Q9UI69	Missense_Mutation	SNP	ENST00000474524.1	37	c.5923G>A	CCDS33876.1	.	.	.	.	.	.	.	.	.	.	G	3.420	-0.118393	0.06838	.	.	ENSG00000144893	ENST00000474524	T	0.56444	0.46	5.75	-2.08	0.07254	Mediator complex, subunit Med12, catenin-binding (1);	0.524287	0.22060	N	0.065195	T	0.16727	0.0402	N	0.02142	-0.665	0.28485	N	0.914745	B	0.13145	0.007	B	0.09377	0.004	T	0.29941	-0.9995	10	0.08599	T	0.76	-2.7763	5.7809	0.18306	0.4389:0.0:0.4404:0.1207	.	1975	Q86YW9	MD12L_HUMAN	T	1975	ENSP00000417235:A1975T	ENSP00000417235:A1975T	A	+	1	0	MED12L	152611873	0.000000	0.05858	0.008000	0.14137	0.644000	0.38419	-0.161000	0.10026	-0.135000	0.11495	-0.145000	0.13849	GCA		0.572	MED12L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357707.2	NM_053002		4	92	0	0	0	1	0	4	92					A	151129183	G	A	151129183	3	1	365	1	0	0	0	0	1	0	0	0	9429	1087	38	1	6077	1	MED12L	3	151129183	Missense_Mutation	SNP	G	TCGA-TK-A8OK-01A-22D-A364-08		151129183	46893247	11	18204											
CLCN2	1181	broad.mit.edu	37	chr3	184071129	184071129	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcgctcctgcatgtgctgcCgccggcgggctgggctcagc	2	8	16	15	4	1	0	1	0	0	0	2	0	2	0	3	3	5	5	3	3	0	0	rs115961753	byFrequency	TCGA-TK-A8OK-01A-22D-A364-08	TCGA-TK-A8OK-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a5f0491-82d8-49de-8420-fa14d8185bdc	577739c4-abfc-466f-9bce-1bbb1f35040b	g.chr3:184071129C>T	ENST00000265593.4	-	17	2108	c.1937G>A	c.(1936-1938)cGg>cAg	p.R646Q	CLCN2_ENST00000423355.2_3'UTR|CLCN2_ENST00000344937.7_Missense_Mutation_p.R629Q|CLCN2_ENST00000457512.1_Missense_Mutation_p.R646Q|EIF2B5_ENST00000444495.1_Intron|CLCN2_ENST00000434054.2_Missense_Mutation_p.R602Q|CLCN2_ENST00000475279.1_5'Flank	NM_004366.5	NP_004357.3	P51788	CLCN2_HUMAN	chloride channel, voltage-sensitive 2	646			R -> Q (reduces channel activity; dbSNP:rs115961753). {ECO:0000269|PubMed:17762171}.		cell differentiation involved in salivary gland development (GO:0060689)|ion transmembrane transport (GO:0034220)|regulation of anion transport (GO:0044070)|retina development in camera-type eye (GO:0060041)|transmembrane transport (GO:0055085)|transport (GO:0006810)	chloride channel complex (GO:0034707)|plasma membrane (GO:0005886)	adenyl nucleotide binding (GO:0030554)|voltage-gated chloride channel activity (GO:0005247)			breast(2)|central_nervous_system(4)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	27	all_cancers(143;6.66e-11)|Ovarian(172;0.0339)		Epithelial(37;2.22e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		Lubiprostone(DB01046)	CATGTGCTGCCGCCGGCGGGC	0.627													C|||	5	0.000998403	0.0038	0	5008	,	,		16816	0		0	False		,,,				2504	0					ENST00000265593.4																			0				breast(2)|central_nervous_system(4)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	27	GRCh37	CM074751	CLCN2	M	rs115961753	c.(1936-1938)cGg>cAg		chloride channel, voltage-sensitive 2	Lubiprostone(DB01046)	C	GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG	24,4380	30.8+/-60.4	0,24,2178	43	47	45		1886,1805,1937,1937	5.6	1	3	dbSNP_133	45	0,8600		0,0,4300	yes	missense,missense,missense,missense	CLCN2	NM_001171087.1,NM_001171088.1,NM_001171089.1,NM_004366.4	43,43,43,43	0,24,6478	TT,TC,CC		0.0,0.545,0.1846	benign,benign,benign,benign	629/882,602/855,646/870,646/899	184071129	24,12980	2202	4300	6502	SO:0001583	missense	1181					chloride channel complex	voltage-gated chloride channel activity	g.chr3:184071129C>T	S77770	CCDS3263.1, CCDS54690.1, CCDS54691.1, CCDS54692.1	3q27.1	2013-09-19	2012-02-23		ENSG00000114859	ENSG00000114859		"Ion channels / Chloride channels : Voltage-sensitive"	2020	protein-coding gene	gene with protein product		600570	"chloride channel 2"			7795595	Standard	NM_004366		Approved	CLC2, EJM6, ClC-2	uc003foi.4	P51788	OTTHUMG00000156747	ENST00000265593.4:c.1937G>A	3.37:g.184071129C>T	ENSP00000265593:p.Arg646Gln					EIF2B5_ENST00000444495.1_Intron|CLCN2_ENST00000344937.7_Missense_Mutation_p.R629Q|CLCN2_ENST00000423355.2_3'UTR|CLCN2_ENST00000434054.2_Missense_Mutation_p.R602Q|CLCN2_ENST00000457512.1_Missense_Mutation_p.R646Q	p.R646Q	NM_004366.5	NP_004357.3	P51788	CLCN2_HUMAN	Epithelial(37;2.22e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		17	2108	-	all_cancers(143;6.66e-11)|Ovarian(172;0.0339)		646		R -> Q (reduces channel activity).			B4DQT9|B4DZ58|E9PBD9|E9PCD2|O14864|Q6IPA9|Q8WU13	Missense_Mutation	SNP	ENST00000265593.4	37	c.1937G>A	CCDS3263.1	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	c	14.67	2.605724	0.46527	0.00545	0.0	ENSG00000114859	ENST00000265593;ENST00000344937;ENST00000434054;ENST00000457512	D;D;D;D	0.88046	-2.33;-2.33;-2.33;-2.33	5.62	5.62	0.85841	.	0.066323	0.64402	D	0.000010	T	0.78672	0.4320	M	0.61703	1.905	0.80722	D	1	B;B;B;B;B	0.26400	0.148;0.089;0.145;0.089;0.089	B;B;B;B;B	0.17722	0.011;0.019;0.018;0.011;0.007	T	0.76735	-0.2850	10	0.35671	T	0.21	-23.6705	9.3767	0.38288	0.2582:0.6088:0.133:0.0	.	602;646;629;646;602	E9PBD9;E9PCD2;P51788-3;P51788;B4DZ58	.;.;.;CLCN2_HUMAN;.	Q	646;629;602;646	ENSP00000265593:R646Q;ENSP00000345056:R629Q;ENSP00000400425:R602Q;ENSP00000391928:R646Q	ENSP00000265593:R646Q	R	-	2	0	CLCN2	185553823	1.000000	0.71417	1.000000	0.80357	0.867000	0.49689	3.463000	0.53050	2.651000	0.90000	0.563000	0.77884	CGG		0.627	CLCN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000345571.1			11	69	0	0	0	1	0	11	69					T	184071129	C	T	184071129	3	4	365	1	0	0	0	0	1	0	0	0	3463	652	23	2	791	2	CLCN2	3	184071129	Missense_Mutation	SNP	C	TCGA-TK-A8OK-01A-22D-A364-08	32941946	184071129	13951301	12	18205											
APBB2	323	broad.mit.edu	37	chr4	40892409	40892409	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcgcggcccacgccccacaCgcggatgctgacgatgggct	6	5	14	16	6	0	1	0	1	0	0	1	3	0	2	3	3	1	2	3	3	0	0			TCGA-TK-A8OK-01A-22D-A364-08	TCGA-TK-A8OK-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a5f0491-82d8-49de-8420-fa14d8185bdc	577739c4-abfc-466f-9bce-1bbb1f35040b	g.chr4:40892409C>T	ENST00000295974.8	-	12	2127	c.1498G>A	c.(1498-1500)Gtg>Atg	p.V500M	APBB2_ENST00000506352.1_Missense_Mutation_p.V479M|APBB2_ENST00000508593.1_Missense_Mutation_p.V501M|APBB2_ENST00000513140.1_Missense_Mutation_p.V479M	NM_001166050.1|NM_004307.1	NP_001159522.1|NP_004298.1	Q92870	APBB2_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 2	500	PID 1. {ECO:0000255|PROSITE- ProRule:PRU00148}.				axon guidance (GO:0007411)|cell cycle arrest (GO:0007050)|extracellular matrix organization (GO:0030198)|intracellular signal transduction (GO:0035556)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|neuron migration (GO:0001764)|positive regulation of apoptotic process (GO:0043065)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|membrane (GO:0016020)|nucleus (GO:0005634)|synapse (GO:0045202)	beta-amyloid binding (GO:0001540)|transcription factor binding (GO:0008134)			central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(3)|skin(2)|urinary_tract(1)	34						ACGCCCCACACGCGGATGCTG	0.637																																					Ovarian(3;20 75 16686 49997)	ENST00000295974.8																			0				central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(3)|skin(2)|urinary_tract(1)	34						c.(1498-1500)Gtg>Atg		amyloid beta (A4) precursor protein-binding, family B, member 2							50	53	52					4																	40892409		2144	4262	6406	SO:0001583	missense	323				cell cycle arrest|intracellular signal transduction|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|regulation of transcription, DNA-dependent	growth cone|lamellipodium|membrane|nucleus|synapse	beta-amyloid binding|transcription factor binding	g.chr4:40892409C>T	U62325	CCDS43224.1, CCDS54760.1, CCDS54761.1, CCDS54762.1	4p13	2011-10-10	2008-07-31		ENSG00000163697	ENSG00000163697			582	protein-coding gene	gene with protein product	"Fe65-like"	602710				8955346, 9585438	Standard	NM_173075		Approved	FE65L, FE65L1, MGC35575	uc003gvn.3	Q92870	OTTHUMG00000160416	ENST00000295974.8:c.1498G>A	4.37:g.40892409C>T	ENSP00000295974:p.Val500Met					APBB2_ENST00000513140.1_Missense_Mutation_p.V479M|APBB2_ENST00000508593.1_Missense_Mutation_p.V501M|APBB2_ENST00000506352.1_Missense_Mutation_p.V479M	p.V500M	NM_001166050.1|NM_004307.1	NP_001159522.1|NP_004298.1	Q92870	APBB2_HUMAN			12	2127	-			500			PID 1.		B4DSL4|E9PG87|Q8IUI6	Missense_Mutation	SNP	ENST00000295974.8	37	c.1498G>A	CCDS54761.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	35|35	5.513924|5.513924	0.96402|0.96402	.|.	.|.	ENSG00000163697|ENSG00000163697	ENST00000513611|ENST00000295974;ENST00000316212;ENST00000513140;ENST00000508593;ENST00000506352;ENST00000512510	T|T;T;T;T;T	0.20463|0.20881	2.07|2.04;2.04;2.04;2.04;2.04	5.98|5.98	5.98|5.98	0.97165|0.97165	.|Phosphotyrosine interaction domain (3);Pleckstrin homology-type (1);	.|0.060636	.|0.64402	.|D	.|0.000003	T|T	0.53061|0.53061	0.1773|0.1773	M|M	0.83118|0.83118	2.625|2.625	0.80722|0.80722	D|D	1|1	.|D;D;D;D	.|0.89917	.|0.994;1.0;1.0;1.0	.|P;D;D;D	.|0.71184	.|0.872;0.972;0.952;0.972	T|T	0.55036|0.55036	-0.8203|-0.8203	7|10	0.87932|0.87932	D|D	0|0	-16.733|-16.733	20.452|20.452	0.99131|0.99131	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|462;501;479;500	.|B4DJ88;E9PG87;Q92870-2;Q92870	.|.;.;.;APBB2_HUMAN	H|M	469|500;499;479;501;479;12	ENSP00000427307:R469H|ENSP00000295974:V500M;ENSP00000426018:V479M;ENSP00000427211:V501M;ENSP00000421539:V479M;ENSP00000426429:V12M	ENSP00000427307:R469H|ENSP00000295974:V500M	R|V	-|-	2|1	0|0	APBB2|APBB2	40587166|40587166	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.992000|0.992000	0.81027|0.81027	7.406000|7.406000	0.80017|0.80017	2.838000|2.838000	0.97847|0.97847	0.591000|0.591000	0.81541|0.81541	CGT|GTG		0.637	APBB2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000360523.3	NM_173075		17	47	0	0	0	1	0	17	47					T	40892409	C	T	40892409	3	4	365	1	0	0	0	0	1	0	0	0	761	536	19	1	806	1	APBB2	4	40892409	Missense_Mutation	SNP	C	TCGA-TK-A8OK-01A-22D-A364-08		40892409	150261867	13	18206											
CD14	929	broad.mit.edu	37	chr5	140012472	140012472	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggagaagttgcagacgcagcGgaaatcttcatcgtccagct	11	8	12	10	3	2	2	1	0	1	2	4	4	3	3	1	2	3	4	1	2	2	2			TCGA-TK-A8OK-01A-22D-A364-08	TCGA-TK-A8OK-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a5f0491-82d8-49de-8420-fa14d8185bdc	577739c4-abfc-466f-9bce-1bbb1f35040b	g.chr5:140012472G>A	ENST00000302014.6	-	2	726	c.97C>T	c.(97-99)Cgc>Tgc	p.R33C	CD14_ENST00000401743.2_Missense_Mutation_p.R33C	NM_000591.3	NP_000582.1	P08571	CD14_HUMAN	CD14 molecule	33					apoptotic process (GO:0006915)|cell surface receptor signaling pathway (GO:0007166)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to lipoteichoic acid (GO:0071223)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|phagocytosis (GO:0006909)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of endocytosis (GO:0045807)|positive regulation of tumor necrosis factor production (GO:0032760)|response to ethanol (GO:0045471)|response to heat (GO:0009408)|response to magnesium ion (GO:0032026)|response to tumor necrosis factor (GO:0034612)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	lipopolysaccharide binding (GO:0001530)|lipoteichoic acid binding (GO:0070891)|opsonin receptor activity (GO:0001847)|peptidoglycan receptor activity (GO:0016019)			endometrium(1)|large_intestine(1)|lung(3)|pancreas(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAGACGCAGCGGAAATCTTCA	0.612																																						ENST00000302014.6																			0				endometrium(1)|large_intestine(1)|lung(3)|pancreas(1)	6						c.(97-99)Cgc>Tgc		CD14 molecule							54	53	53					5																	140012472		2203	4300	6503	SO:0001583	missense	929				apoptosis|cellular response to lipopolysaccharide|cellular response to lipoteichoic acid|inflammatory response|innate immune response|phagocytosis|positive regulation of tumor necrosis factor production|Toll signaling pathway	anchored to membrane|plasma membrane	lipopolysaccharide binding|lipoteichoic acid binding|opsonin receptor activity|peptidoglycan receptor activity	g.chr5:140012472G>A		CCDS4232.1	5q31.3	2012-09-20	2006-03-28		ENSG00000170458	ENSG00000170458		"CD molecules"	1628	protein-coding gene	gene with protein product		158120	"CD14 antigen"			2472171, 2462937	Standard	NM_000591		Approved		uc003lgi.2	P08571	OTTHUMG00000129507	ENST00000302014.6:c.97C>T	5.37:g.140012472G>A	ENSP00000304236:p.Arg33Cys					CD14_ENST00000401743.2_Missense_Mutation_p.R33C	p.R33C	NM_000591.3	NP_000582.1	P08571	CD14_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		2	726	-			33					Q53XT5|Q96FR6|Q96L99|Q9UNS3	Missense_Mutation	SNP	ENST00000302014.6	37	c.97C>T	CCDS4232.1	.	.	.	.	.	.	.	.	.	.	G	18.82	3.705119	0.68615	.	.	ENSG00000170458	ENST00000302014;ENST00000401743;ENST00000498971;ENST00000519715;ENST00000512545	D;D;D;D;D	0.92048	-2.96;-2.96;-2.96;-2.96;-2.96	5.78	4.83	0.62350	.	0.429939	0.19444	N	0.114109	D	0.94165	0.8128	L	0.55990	1.75	0.09310	N	1	D	0.89917	1.0	D	0.69654	0.965	D	0.87852	0.2658	10	0.72032	D	0.01	-10.0416	12.7986	0.57573	0.0:0.0:0.8259:0.1741	.	33	P08571	CD14_HUMAN	C	33	ENSP00000304236:R33C;ENSP00000385519:R33C;ENSP00000426543:R33C;ENSP00000430884:R33C;ENSP00000425447:R33C	ENSP00000304236:R33C	R	-	1	0	CD14	139992656	0.216000	0.23585	0.338000	0.25549	0.020000	0.10135	1.044000	0.30329	2.735000	0.93741	0.655000	0.94253	CGC		0.612	CD14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251681.2	NM_000591		3	18	0	0	0	1	0	3	18					A	140012472	G	A	140012472	3	1	365	1	0	0	0	0	1	0	0	0	2964	1116	39	2	1034	2	CD14	5	140012472	Missense_Mutation	SNP	G	TCGA-TK-A8OK-01A-22D-A364-08		140012472	40902788	14	18207											
PCDHA4	56144	broad.mit.edu	37	chr5	140187407	140187407	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccggagatttttttagtgcTcacagccactgatggaggca	9	12	11	9	1	1	2	1	1	0	1	2	4	2	3	2	3	2	2	2	3	1	4			TCGA-TK-A8OK-01A-22D-A364-08	TCGA-TK-A8OK-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a5f0491-82d8-49de-8420-fa14d8185bdc	577739c4-abfc-466f-9bce-1bbb1f35040b	g.chr5:140187407T>C	ENST00000530339.1	+	1	635	c.635T>C	c.(634-636)cTc>cCc	p.L212P	PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000356878.4_Missense_Mutation_p.L212P|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000512229.2_Missense_Mutation_p.L212P|PCDHA1_ENST00000504120.2_Intron	NM_018907.2	NP_061730.1	Q9UN74	PCDA4_HUMAN	protocadherin alpha 4	212	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(6)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTTTTAGTGCTCACAGCCACT	0.468																																						ENST00000530339.1																			0				breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(6)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	78						c.(634-636)cTc>cCc									51	58	55					5																	140187407		2203	4300	6503	SO:0001583	missense	0							g.chr5:140187407T>C	AF152482	CCDS54916.1	5q31	2010-11-26				ENSG00000204967		"Cadherins / Protocadherins : Clustered"	8670	other	complex locus constituent	"ortholog of mouse CNR1, KIAA0345-like 10"	606310				10380929, 10662547	Standard	NM_018907		Approved	CNR1, CRNR1, PCDH-ALPHA4, CNRN1		Q9UN74		ENST00000530339.1:c.635T>C	5.37:g.140187407T>C	ENSP00000435300:p.Leu212Pro					PCDHA4_ENST00000356878.4_Missense_Mutation_p.L212P|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Missense_Mutation_p.L212P|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron	p.L212P	NM_018907.2	NP_061730.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	635	+								O75285|Q2M253	Missense_Mutation	SNP	ENST00000530339.1	37	c.635T>C	CCDS54916.1	.	.	.	.	.	.	.	.	.	.	t	12.79	2.043654	0.36085	.	.	ENSG00000204967	ENST00000512229;ENST00000356878;ENST00000530339	T;T;T	0.42513	0.97;0.97;0.97	4.34	4.34	0.51931	Cadherin (4);Cadherin-like (1);	0.000000	0.36066	U	0.002815	T	0.79240	0.4412	H	0.99507	4.6	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.991;0.997;0.997	D	0.88082	0.2807	10	0.87932	D	0	.	13.8071	0.63238	0.0:0.0:0.0:1.0	.	212;212;212	Q9UN74-2;Q9UN74;D6RA20	.;PCDA4_HUMAN;.	P	212	ENSP00000423470:L212P;ENSP00000349344:L212P;ENSP00000435300:L212P	ENSP00000349344:L212P	L	+	2	0	PCDHA4	140167591	0.992000	0.36948	0.097000	0.21041	0.126000	0.20510	7.997000	0.88414	1.735000	0.51646	0.383000	0.25322	CTC		0.468	PCDHA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372864.2	NM_018907		24	62	0	0	0	1	0	24	62					C	140187407	T	C	140187407	3	2	365	1	0	0	0	0	1	0	0	0	11526	1551	54	4	637	4	PCDHA4	5	140187407	Missense_Mutation	SNP	T	TCGA-TK-A8OK-01A-22D-A364-08	174935	140187407	40727853	15	18208											
PCDHGA12	26025	broad.mit.edu	37	chr5	140811043	140811043	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggatgcgaacgacaacgcAccagcgtttgctcagcccga	10	6	11	14	5	1	0	1	0	0	0	1	4	1	1	2	1	6	3	2	1	2	1			TCGA-TK-A8OK-01A-22D-A364-08	TCGA-TK-A8OK-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a5f0491-82d8-49de-8420-fa14d8185bdc	577739c4-abfc-466f-9bce-1bbb1f35040b	g.chr5:140811043A>G	ENST00000252085.3	+	1	859	c.717A>G	c.(715-717)gcA>gcG	p.A239A	PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA3_ENST00000253812.6_Intron	NM_003735.2|NM_032094.1	NP_003726.1|NP_115265.1	O60330	PCDGC_HUMAN	protocadherin gamma subfamily A, 12	239	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(23)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	58			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACGACAACGCACCAGCGTTTG	0.657																																						ENST00000252085.3																			0				breast(2)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(23)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	58						c.(715-717)gcA>gcG									54	55	55					5																	140811043		2203	4300	6503	SO:0001819	synonymous_variant	0							g.chr5:140811043A>G	AF152506	CCDS4260.1, CCDS75346.1	5q31	2010-01-26	2002-05-23		ENSG00000253159	ENSG00000253159		"Cadherins / Protocadherins : Clustered"	8699	other	protocadherin	"fibroblast cadherin FIB3"	603059	"cadherin 21"	CDH21		10380929	Standard	NM_003735		Approved	KIAA0588, FIB3, PCDH-GAMMA-A12		O60330	OTTHUMG00000129611	ENST00000252085.3:c.717A>G	5.37:g.140811043A>G						PCDHGB7_ENST00000398594.2_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA11_ENST00000398587.2_Intron	p.A239A	NM_003735.2|NM_032094.1	NP_003726.1|NP_115265.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	859	+								O15100|Q6UW70|Q9Y5D7	Silent	SNP	ENST00000252085.3	37	c.717A>G	CCDS4260.1																																																																																				0.657	PCDHGA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251806.2	NM_003735		14	41	0	0	0	1	0	14	41					G	140811043	A	G	140811043	2	3	365	1	0	0	0	0	0	0	0	1	11553	146	6	4		4	PCDHGA12	5	140811043	Silent	SNP	A	TCGA-TK-A8OK-01A-22D-A364-08	623636	140811043	40104217	16	18209											
SLIT3	6586	broad.mit.edu	37	chr5	168093525	168093525	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tctacaaacgaggagccgtcCgtgcactggaagacgtattt	11	9	11	10	4	1	1	0	0	1	1	2	4	2	3	2	2	4	2	2	2	4	3	rs143047334	byFrequency	TCGA-TK-A8OK-01A-22D-A364-08	TCGA-TK-A8OK-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a5f0491-82d8-49de-8420-fa14d8185bdc	577739c4-abfc-466f-9bce-1bbb1f35040b	g.chr5:168093525C>T	ENST00000519560.1	-	36	4925	c.4506G>A	c.(4504-4506)acG>acA	p.T1502T	SLIT3_ENST00000332966.8_Silent_p.T1509T|CTC-558O2.2_ENST00000520041.1_RNA	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053	O75094	SLIT3_HUMAN	slit homolog 3 (Drosophila)	1502	CTCK. {ECO:0000255|PROSITE- ProRule:PRU00039}.				apoptotic process involved in luteolysis (GO:0061364)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|cellular response to hormone stimulus (GO:0032870)|negative chemotaxis (GO:0050919)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of gene expression (GO:0010629)|organ morphogenesis (GO:0009887)|response to cortisol (GO:0051414)|Roundabout signaling pathway (GO:0035385)	extracellular space (GO:0005615)|mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)|Roundabout binding (GO:0048495)			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			AGGAGCCGTCCGTGCACTGGA	0.642													C|||	5	0.000998403	8e-04	0.0043	5008	,	,		14935	0		0.001	False		,,,				2504	0				Ovarian(29;311 847 10864 17279 24903)	ENST00000519560.1																			0				endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100						c.(4504-4506)acG>acA		slit homolog 3 (Drosophila)		C		14,4392	21.2+/-45.6	0,14,2189	47	39	42		4506	-9.4	0.5	5	dbSNP_134	42	44,8556	28.5+/-78.6	1,42,4257	no	coding-synonymous	SLIT3	NM_003062.2		1,56,6446	TT,TC,CC		0.5116,0.3177,0.4459		1502/1524	168093525	58,12948	2203	4300	6503	SO:0001819	synonymous_variant	6586				apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway	extracellular space|mitochondrion	calcium ion binding|Roundabout binding	g.chr5:168093525C>T	AB011538	CCDS4369.1, CCDS64311.1	5q35	2008-07-18	2001-11-28		ENSG00000184347	ENSG00000184347			11087	protein-coding gene	gene with protein product		603745	"slit (Drosophila) homolog 3"	SLIL2		9693030, 9813312	Standard	NM_001271946		Approved	slit2, MEGF5, SLIT1, Slit-3	uc010jjg.4	O75094	OTTHUMG00000130409	ENST00000519560.1:c.4506G>A	5.37:g.168093525C>T						CTC-558O2.2_ENST00000520041.1_RNA|SLIT3_ENST00000332966.8_Silent_p.T1509T	p.T1502T	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053.1	O75094	SLIT3_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		36	4925	-	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	1502			CTCK.		A6H8U9|J3KNP3|O95804|Q9UFH5	Silent	SNP	ENST00000519560.1	37	c.4506G>A	CCDS4369.1																																																																																				0.642	SLIT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252792.4	NM_003062		3	10	0	0	0	1	0	3	10					T	168093525	C	T	168093525	2	4	365	1	0	0	0	0	0	0	0	1	14741	639	23	2		2	SLIT3	5	168093525	Silent	SNP	C	TCGA-TK-A8OK-01A-22D-A364-08	27282482	168093525	12821735	17	18210											
ABCC10	89845	broad.mit.edu	37	chr6	43403887	43403887	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tctgttcagatccccctgcaGagccatctacagtattggag	9	11	9	12	0	3	2	1	0	2	2	4	3	4	3	3	1	3	3	3	1	2	4			TCGA-TK-A8OK-01A-22D-A364-08	TCGA-TK-A8OK-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a5f0491-82d8-49de-8420-fa14d8185bdc	577739c4-abfc-466f-9bce-1bbb1f35040b	g.chr6:43403887G>C	ENST00000372530.4	+	6	1992	c.1777G>C	c.(1777-1779)Gag>Cag	p.E593Q	ABCC10_ENST00000244533.3_Missense_Mutation_p.E565Q	NM_001198934.1	NP_001185863.1	Q5T3U5	MRP7_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 10	593					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(8)|lung(21)|ovary(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)		Cyclosporine(DB00091)|Cytarabine(DB00987)|Daunorubicin(DB00694)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Estradiol(DB00783)|Etoposide(DB00773)|Gemcitabine(DB00441)|Methotrexate(DB00563)|Paclitaxel(DB01229)|Sildenafil(DB00203)|Tenofovir(DB00300)|Verapamil(DB00661)|Vincristine(DB00541)	TCCCCCTGCAGAGCCATCTAC	0.498																																						ENST00000244533.3																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(8)|lung(21)|ovary(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						c.(1693-1695)Gag>Cag		ATP-binding cassette, sub-family C (CFTR/MRP), member 10							117	119	119					6																	43403887		2203	4300	6503	SO:0001583	missense	89845					integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr6:43403887G>C	U66684	CCDS4896.1, CCDS56430.1	6p12.3	2012-03-14			ENSG00000124574	ENSG00000124574		"ATP binding cassette transporters / subfamily C"	52	protein-coding gene	gene with protein product		612509				8894702	Standard	NM_033450		Approved	EST182763, MRP7, SIMRP7	uc003ouy.1	Q5T3U5	OTTHUMG00000014733	ENST00000372530.4:c.1777G>C	6.37:g.43403887G>C	ENSP00000361608:p.Glu593Gln					ABCC10_ENST00000372530.4_Missense_Mutation_p.E593Q	p.E565Q	NM_033450.2	NP_258261.2	Q5T3U5	MRP7_HUMAN	Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)		4	2052	+	all_lung(25;0.00536)		593					Q8NHX7|Q9H7N2|Q9NXY3|Q9UF48	Missense_Mutation	SNP	ENST00000372530.4	37	c.1693G>C	CCDS56430.1	.	.	.	.	.	.	.	.	.	.	G	9.997	1.232514	0.22626	.	.	ENSG00000124574	ENST00000372515;ENST00000372530;ENST00000244533	D;D;D	0.91631	-2.44;-2.88;-2.87	5.63	4.67	0.58626	.	0.420235	0.25052	N	0.033516	T	0.77955	0.4208	L	0.31294	0.92	0.23862	N	0.996633	B;B	0.24132	0.098;0.047	B;B	0.28553	0.091;0.024	T	0.65894	-0.6057	10	0.23302	T	0.38	-18.491	11.9865	0.53151	0.0914:0.0:0.9086:0.0	.	565;593	Q5T3U5-2;Q5T3U5	.;MRP7_HUMAN	Q	149;593;565	ENSP00000361593:E149Q;ENSP00000361608:E593Q;ENSP00000244533:E565Q	ENSP00000244533:E565Q	E	+	1	0	ABCC10	43511865	0.805000	0.28982	0.770000	0.31555	0.369000	0.29798	3.251000	0.51453	1.219000	0.43474	0.462000	0.41574	GAG		0.498	ABCC10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040603.2	NM_033450		42	116	0	0	0	1	0	42	116					C	43403887	G	C	43403887	3	2	365	1	0	0	0	0	1	0	0	0	50	943	33	5	1707	5	ABCC10	6	43403887	Missense_Mutation	SNP	G	TCGA-TK-A8OK-01A-22D-A364-08		43403887	127711180	18	18211											
PKHD1	5314	broad.mit.edu	37	chr6	51935833	51935833	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgccttccacatggcactgcAgagtcccaagaccatggtcc	9	7	9	16	1	0	2	0	0	0	2	3	2	3	2	5	2	1	2	5	2	1	1			TCGA-TK-A8OK-01A-22D-A364-08	TCGA-TK-A8OK-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a5f0491-82d8-49de-8420-fa14d8185bdc	577739c4-abfc-466f-9bce-1bbb1f35040b	g.chr6:51935833A>G	ENST00000371117.3	-	9	913	c.638T>C	c.(637-639)cTg>cCg	p.L213P	PKHD1_ENST00000340994.4_Missense_Mutation_p.L213P	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	213	IPT/TIG 2.				cellular calcium ion homeostasis (GO:0006874)|cilium assembly (GO:0042384)|homeostatic process (GO:0042592)|kidney development (GO:0001822)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular component movement (GO:0051271)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of cell proliferation (GO:0008284)|regulation of centrosome duplication (GO:0010824)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of TOR signaling (GO:0032006)|single organismal cell-cell adhesion (GO:0016337)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|primary cilium (GO:0072372)	receptor activity (GO:0004872)			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					ATGGCACTGCAGAGTCCCAAG	0.413																																						ENST00000371117.3																			0				NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304						c.(637-639)cTg>cCg		polycystic kidney and hepatic disease 1 (autosomal recessive)							99	95	97					6																	51935833		2203	4300	6503	SO:0001583	missense	5314				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity	g.chr6:51935833A>G	AF480064	CCDS4935.1, CCDS4936.1	6p21.2-p12	2012-11-26	2003-04-16		ENSG00000170927	ENSG00000170927			9016	protein-coding gene	gene with protein product	"tigmin", "polyductin", "fibrocystin"	606702	"TIG multiple domains 1"	TIGM1		9503014	Standard	NM_138694		Approved	ARPKD, FCYT	uc003pah.1	P08F94	OTTHUMG00000014841	ENST00000371117.3:c.638T>C	6.37:g.51935833A>G	ENSP00000360158:p.Leu213Pro					PKHD1_ENST00000340994.4_Missense_Mutation_p.L213P	p.L213P	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN			9	913	-	Lung NSC(77;0.0605)		213			IPT/TIG 2.		Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Missense_Mutation	SNP	ENST00000371117.3	37	c.638T>C	CCDS4935.1	.	.	.	.	.	.	.	.	.	.	A	13.33	2.206153	0.39003	.	.	ENSG00000170927	ENST00000371117;ENST00000340994;ENST00000393616	D;D	0.89617	-2.35;-2.54	5.18	5.18	0.71444	.	0.384185	0.21689	N	0.070607	D	0.85609	0.5736	L	0.50333	1.59	0.46654	D	0.99914	P;B	0.36909	0.573;0.437	P;B	0.45071	0.468;0.143	D	0.87631	0.2516	10	0.66056	D	0.02	.	12.957	0.58434	1.0:0.0:0.0:0.0	.	213;213	P08F94-2;P08F94	.;PKHD1_HUMAN	P	213	ENSP00000360158:L213P;ENSP00000341097:L213P	ENSP00000341097:L213P	L	-	2	0	PKHD1	52043792	1.000000	0.71417	0.991000	0.47740	0.015000	0.08874	5.203000	0.65174	2.178000	0.69098	0.529000	0.55759	CTG		0.413	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040893.1	NM_138694		18	62	0	0	0	1	0	18	62					G	51935833	A	G	51935833	3	3	365	1	0	0	0	0	1	0	0	0	11971	188	7	4	11861	4	PKHD1	6	51935833	Missense_Mutation	SNP	A	TCGA-TK-A8OK-01A-22D-A364-08	8531946	51935833	119179234	19	18212											
PHF3	23469	broad.mit.edu	37	chr6	64422424	64422424	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gaggtctccacagtttatcaAcctgaaaagggatcctaggc	12	9	10	10	0	2	1	1	1	1	0	4	3	3	2	3	3	1	1	3	3	5	3			TCGA-TK-A8OK-01A-22D-A364-08	TCGA-TK-A8OK-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a5f0491-82d8-49de-8420-fa14d8185bdc	577739c4-abfc-466f-9bce-1bbb1f35040b	g.chr6:64422424A>G	ENST00000262043.3	+	16	5280	c.4940A>G	c.(4939-4941)aAc>aGc	p.N1647S	PHF3_ENST00000393387.1_Missense_Mutation_p.N1647S			Q92576	PHF3_HUMAN	PHD finger protein 3	1647					multicellular organismal development (GO:0007275)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)			CAGTTTATCAACCTGAAAAGG	0.433																																					GBM(135;136 1820 29512 34071 46235)	ENST00000262043.3																			0				breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75						c.(4939-4941)aAc>aGc		PHD finger protein 3							53	52	52					6																	64422424		2203	4300	6503	SO:0001583	missense	23469				multicellular organismal development|transcription, DNA-dependent	nucleus	zinc ion binding	g.chr6:64422424A>G	AF091622	CCDS4966.1	6q12	2013-09-24			ENSG00000118482	ENSG00000118482		"Zinc fingers, PHD-type"	8921	protein-coding gene	gene with protein product		607789				11856869	Standard	XM_005248701		Approved		uc003pep.1	Q92576	OTTHUMG00000014952	ENST00000262043.3:c.4940A>G	6.37:g.64422424A>G	ENSP00000262043:p.Asn1647Ser					PHF3_ENST00000393387.1_Missense_Mutation_p.N1647S	p.N1647S			Q92576	PHF3_HUMAN	LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)		16	5280	+	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		1647					A3KFI8|Q14CR5|Q5CZI1|Q5T1T6|Q9NQ16|Q9UI45	Missense_Mutation	SNP	ENST00000262043.3	37	c.4940A>G	CCDS4966.1	.	.	.	.	.	.	.	.	.	.	A	11.92	1.782233	0.31502	.	.	ENSG00000118482	ENST00000262043;ENST00000393387	T;T	0.23754	1.89;1.89	6.07	6.07	0.98685	.	0.000000	0.43260	D	0.000593	T	0.06826	0.0174	N	0.24115	0.695	0.41272	D	0.986852	P	0.42692	0.787	B	0.33121	0.158	T	0.18808	-1.0325	9	.	.	.	-18.2361	10.8883	0.46981	0.9305:0.0:0.0695:0.0	.	1647	Q92576	PHF3_HUMAN	S	1647	ENSP00000262043:N1647S;ENSP00000377048:N1647S	.	N	+	2	0	PHF3	64480383	0.999000	0.42202	0.999000	0.59377	0.858000	0.48976	3.718000	0.54919	2.326000	0.78906	0.533000	0.62120	AAC		0.433	PHF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041086.2			5	19	0	0	0	1	0	5	19					G	64422424	A	G	64422424	3	3	365	1	0	0	0	0	1	0	0	0	11836	43	2	4	4998	4	PHF3	6	64422424	Missense_Mutation	SNP	A	TCGA-TK-A8OK-01A-22D-A364-08	12486591	64422424	106692643	20	18213											
SLC17A5	26503	broad.mit.edu	37	chr6	74351528	74351537	+	Frame_Shift_Del	DEL	CATTTTCCCC	CATTTTCCCC	-																															aggatcccaaatcctagcagCattttcccccctattttgct																								rs80338795		TCGA-TK-A8OK-01A-22D-A364-08	TCGA-TK-A8OK-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a5f0491-82d8-49de-8420-fa14d8185bdc	577739c4-abfc-466f-9bce-1bbb1f35040b	g.chr6:74351528_74351537delCATTTTCCCC	ENST00000355773.5	-	3	670_679	c.402_411delGGGGAAAATG	c.(400-411)ggggggaaaatgfs	p.GGKM134fs	SLC17A5_ENST00000393019.3_Frame_Shift_Del_p.GGKM134fs|SLC17A5_ENST00000481996.1_5'UTR	NM_012434.4	NP_036566.1	Q9NRA2	S17A5_HUMAN	solute carrier family 17 (acidic sugar transporter), member 5	134					amino acid transport (GO:0006865)|anion transport (GO:0006820)|ion transport (GO:0006811)|proton transport (GO:0015992)|sialic acid transport (GO:0015739)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|plasma membrane (GO:0005886)|synapse (GO:0045202)	sialic acid transmembrane transporter activity (GO:0015136)|sugar:proton symporter activity (GO:0005351)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						ATCCTAGCAGCATTTTCCCCCCTATTTTGC	0.471																																						ENST00000355773.5																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	GRCh37	CM003476	SLC17A5	M	rs80338795	c.(400-411)ggfs		solute carrier family 17 (acidic sugar transporter), member 5																																				SO:0001589	frameshift_variant	26503				anion transport	integral to plasma membrane|lysosomal membrane|membrane fraction	sialic acid:hydrogen symporter activity	g.chr6:74351528_74351537delCATTTTCCCC	AJ387747	CCDS4981.1	6q13	2013-07-18	2013-07-18		ENSG00000119899	ENSG00000119899		"Solute carriers"	10933	protein-coding gene	gene with protein product		604322	"sialic acid storage disease", "solute carrier family 17 (anion/sugar transporter), member 5"	SIASD		10581036, 8198127	Standard	NM_012434		Approved	AST, SD, ISSD, NSD, SIALIN, SLD	uc003phn.4	Q9NRA2	OTTHUMG00000015039	ENST00000355773.5:c.402_411delGGGGAAAATG	6.37:g.74351528_74351537delCATTTTCCCC	ENSP00000348019:p.Gly134fs					SLC17A5_ENST00000393019.3_Frame_Shift_Del_p.GGKM134fs|SLC17A5_ENST00000481996.1_5'UTR	p.GGKM134fs	NM_012434.4	NP_036566.1	Q9NRA2	S17A5_HUMAN			3	670_679	-			134					Q5SZ76|Q8NBR5|Q9UGH0	Frame_Shift_Del	DEL	ENST00000355773.5	37	c.402_411delGGGGAAAATG	CCDS4981.1																																																																																				0.471	SLC17A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041228.1			29	121						29	121	---	---	---	---	-	74351537	CATTTTCCCC	-	74351528	7	5	365	1	0	1	0	1	0	0	0	0	14420	710	25	0	1112	0	SLC17A5	6	74351528	Frame_Shift_Del	DEL	CATTTTCCCC	TCGA-TK-A8OK-01A-22D-A364-08	9929104	74351528	96763539	21	18214											
RAET1E	135250	broad.mit.edu	37	chr6	150211114	150211114	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtcaattctccccaagtgcTggtggcatataccttcttcc	7	13	8	13	0	3	0	1	0	2	0	5	0	4	0	4	3	2	2	4	3	4	5			TCGA-TK-A8OK-01A-22D-A364-08	TCGA-TK-A8OK-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a5f0491-82d8-49de-8420-fa14d8185bdc	577739c4-abfc-466f-9bce-1bbb1f35040b	g.chr6:150211114T>A	ENST00000357183.4	-	2	385	c.253A>T	c.(253-255)Agc>Tgc	p.S85C	RAET1E_ENST00000529948.1_Missense_Mutation_p.S85C|RAET1E_ENST00000532335.1_Missense_Mutation_p.S85C|RP11-244K5.8_ENST00000606915.1_RNA|RAET1E-AS1_ENST00000446954.2_RNA|RAET1E_ENST00000367363.3_Missense_Mutation_p.S49C|RAET1E-AS1_ENST00000605899.1_RNA	NM_139165.2	NP_631904.1	Q8TD07	N2DL4_HUMAN	retinoic acid early transcript 1E	85	MHC class I alpha-1 like.				antigen processing and presentation (GO:0019882)|natural killer cell mediated cytotoxicity (GO:0042267)|regulation of immune response (GO:0050776)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	natural killer cell lectin-like receptor binding (GO:0046703)			cervix(1)|kidney(2)|large_intestine(3)|lung(3)|skin(1)	10		Ovarian(120;0.0907)	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;2.58e-12)		CCCCAAGTGCTGGTGGCATAT	0.493																																						ENST00000532335.1																			0				cervix(1)|kidney(2)|large_intestine(3)|lung(3)|skin(1)	10						c.(253-255)Agc>Tgc		retinoic acid early transcript 1E							107	98	101					6																	150211114		2203	4300	6503	SO:0001583	missense	135250				antigen processing and presentation|immune response|regulation of immune response	integral to membrane|MHC class I protein complex	protein binding	g.chr6:150211114T>A	AF359243	CCDS5221.1, CCDS59042.1, CCDS59043.1, CCDS59044.1	6q24.3	2011-02-09			ENSG00000164520	ENSG00000164520			16793	protein-coding gene	gene with protein product		609243				11827464	Standard	NM_139165		Approved	LETAL, bA350J20.7, ULBP4	uc003qnl.1	Q8TD07	OTTHUMG00000015796	ENST00000357183.4:c.253A>T	6.37:g.150211114T>A	ENSP00000349709:p.Ser85Cys					RP11-244K5.1_ENST00000605899.1_RNA|RAET1E_ENST00000367363.3_Missense_Mutation_p.S49C|RP11-244K5.8_ENST00000606915.1_RNA|RAET1E_ENST00000529948.1_Missense_Mutation_p.S85C|RAET1E_ENST00000357183.4_Missense_Mutation_p.S85C	p.S85C	NM_001243328.1	NP_001230257.1	Q8TD07	N2DL4_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;2.58e-12)	3	599	-		Ovarian(120;0.0907)	85			MHC class I alpha-1 like.		A6YF59|Q5VYB7|Q5VYB8|Q8TEZ2|Q96L41	Missense_Mutation	SNP	ENST00000357183.4	37	c.253A>T	CCDS5221.1	.	.	.	.	.	.	.	.	.	.	T	14.92	2.679685	0.47886	.	.	ENSG00000164520	ENST00000532335;ENST00000357183;ENST00000367363;ENST00000529948	T;T;T;T	0.07114	3.22;3.22;3.22;3.22	3.73	1.37	0.22104	MHC class I, alpha chain, alpha1/alpha2 (1);MHC classes I/II-like antigen recognition protein (1);MHC class I-like antigen recognition (1);	0.812302	0.10943	N	0.617051	T	0.05823	0.0152	N	0.22421	0.69	0.09310	N	1	D;D;D	0.89917	1.0;0.999;0.999	D;D;D	0.75484	0.986;0.975;0.965	T	0.29941	-0.9995	10	0.72032	D	0.01	-7.3823	5.1791	0.15150	0.0:0.2422:0.0:0.7578	.	85;49;85	Q8TD07;Q8TD07-2;Q8TD07-3	N2DL4_HUMAN;.;.	C	85;85;49;85	ENSP00000437067:S85C;ENSP00000349709:S85C;ENSP00000356332:S49C;ENSP00000432366:S85C	ENSP00000349709:S85C	S	-	1	0	RAET1E	150252807	0.000000	0.05858	0.000000	0.03702	0.090000	0.18270	-0.604000	0.05667	0.300000	0.22699	0.482000	0.46254	AGC		0.493	RAET1E-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042659.1	NM_139165		6	47	0	0	0	1	0	6	47					A	150211114	T	A	150211114	3	1	365	1	0	0	0	0	1	0	0	0	12999	1580	55	5	550	5	RAET1E	6	150211114	Missense_Mutation	SNP	T	TCGA-TK-A8OK-01A-22D-A364-08	75859586	150211114	20903953	22	18215											
TNRC18	84629	broad.mit.edu	37	chr7	5348869	5348869	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	actcccacatgctctggatgCggccgatgtagggcaggttg	7	9	14	11	2	1	0	0	0	1	0	2	2	2	1	2	4	2	4	2	4	1	2	rs367586045		TCGA-TK-A8OK-01A-22D-A364-08	TCGA-TK-A8OK-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a5f0491-82d8-49de-8420-fa14d8185bdc	577739c4-abfc-466f-9bce-1bbb1f35040b	g.chr7:5348869C>T	ENST00000430969.1	-	28	8867	c.8519G>A	c.(8518-8520)cGc>cAc	p.R2840H	TNRC18_ENST00000399537.4_Missense_Mutation_p.R2840H	NM_001080495.2	NP_001073964.2	O15417	TNC18_HUMAN	trinucleotide repeat containing 18	2840	BAH. {ECO:0000255|PROSITE- ProRule:PRU00370}.						chromatin binding (GO:0003682)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)	11		Ovarian(82;0.142)		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)		GCTCTGGATGCGGCCGATGTA	0.632																																						ENST00000399537.4																			0				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)	11						c.(8518-8520)cGc>cAc		trinucleotide repeat containing 18		C	HIS/ARG	0,4010		0,0,2005	41	43	43		8519	4.6	1	7		43	1,8341		0,1,4170	no	missense	TNRC18	NM_001080495.2	29	0,1,6175	TT,TC,CC		0.012,0.0,0.0081	probably-damaging	2840/2969	5348869	1,12351	2005	4171	6176	SO:0001583	missense	84629						DNA binding	g.chr7:5348869C>T	U80753	CCDS47534.1	7p22.1	2012-04-17			ENSG00000182095	ENSG00000182095		"Trinucleotide (CAG) repeat containing"	11962	protein-coding gene	gene with protein product						9225980	Standard	NM_001080495		Approved	CAGL79, TNRC18A, KIAA1856	uc003soi.4	O15417	OTTHUMG00000151831	ENST00000430969.1:c.8519G>A	7.37:g.5348869C>T	ENSP00000395538:p.Arg2840His					TNRC18_ENST00000430969.1_Missense_Mutation_p.R2840H	p.R2840H			O15417	TNC18_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)	28	8867	-		Ovarian(82;0.142)	2840			BAH.		A8MX41|Q96JH1|Q96K91	Missense_Mutation	SNP	ENST00000430969.1	37	c.8519G>A	CCDS47534.1	.	.	.	.	.	.	.	.	.	.	c	18.60	3.658729	0.67586	0.0	1.2E-4	ENSG00000182095	ENST00000399537;ENST00000430969	D;D	0.87729	-2.29;-2.29	5.43	4.55	0.56014	Bromo adjacent homology (BAH) domain (3);	.	.	.	.	D	0.87609	0.6220	L	0.39898	1.24	0.41835	D	0.990099	D	0.61697	0.99	P	0.54629	0.757	D	0.87932	0.2711	9	0.51188	T	0.08	.	14.0679	0.64841	0.0:0.927:0.0:0.073	.	2840	O15417	TNC18_HUMAN	H	2840	ENSP00000382452:R2840H;ENSP00000395538:R2840H	ENSP00000382452:R2840H	R	-	2	0	TNRC18	5315395	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	5.358000	0.66064	1.287000	0.44583	0.561000	0.74099	CGC		0.632	TNRC18-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding				3	28	0	0	0	1	0	3	28					T	5348869	C	T	5348869	3	4	365	1	0	0	0	0	1	0	0	0	16336	768	27	1	399	1	TNRC18	7	5348869	Missense_Mutation	SNP	C	TCGA-TK-A8OK-01A-22D-A364-08		5348869	153789794	23	18216											
ABCA13	154664	broad.mit.edu	37	chr7	48550725	48550725	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtgtgttgccgttattgtcGccttccagttaacagctttt	5	18	9	9	2	0	0	0	0	0	0	2	0	1	0	3	0	3	4	3	0	2	7			TCGA-TK-A8OK-01A-22D-A364-08	TCGA-TK-A8OK-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a5f0491-82d8-49de-8420-fa14d8185bdc	577739c4-abfc-466f-9bce-1bbb1f35040b	g.chr7:48550725G>A	ENST00000435803.1	+	51	13594	c.13570G>A	c.(13570-13572)Gcc>Acc	p.A4524T	ABCA13_ENST00000544596.1_Missense_Mutation_p.A254T	NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	4524					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						CGTTATTGTCGCCTTCCAGTT	0.448																																						ENST00000435803.1																			0				breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						c.(13570-13572)Gcc>Acc		ATP-binding cassette, sub-family A (ABC1), member 13							125	120	122					7																	48550725		1955	4141	6096	SO:0001583	missense	154664				transport	integral to membrane	ATP binding|ATPase activity	g.chr7:48550725G>A	AY204751	CCDS47584.1	7p12.3	2012-03-14			ENSG00000179869	ENSG00000179869		"ATP binding cassette transporters / subfamily A"	14638	protein-coding gene	gene with protein product		607807				12697998	Standard	NM_152701		Approved	FLJ33876, FLJ33951	uc003toq.2	Q86UQ4	OTTHUMG00000155840	ENST00000435803.1:c.13570G>A	7.37:g.48550725G>A	ENSP00000411096:p.Ala4524Thr					ABCA13_ENST00000544596.1_Missense_Mutation_p.A254T	p.A4524T	NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN			51	13594	+			4524					K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Missense_Mutation	SNP	ENST00000435803.1	37	c.13570G>A	CCDS47584.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	21.5|21.5	4.155338|4.155338	0.78114|0.78114	.|.	.|.	ENSG00000179869|ENSG00000179869	ENST00000435803;ENST00000411975;ENST00000544596|ENST00000435451	D;D;D|.	0.88509|.	-2.39;-2.39;-2.39|.	5.17|5.17	4.28|4.28	0.50868|0.50868	.|.	0.000000|.	0.47852|.	D|.	0.000214|.	T|T	0.72748|0.72748	0.3499|0.3499	M|M	0.74881|0.74881	2.28|2.28	0.41380|0.41380	D|D	0.987546|0.987546	D;D;D|.	0.89917|.	1.0;1.0;1.0|.	D;D;D|.	0.91635|.	0.964;0.999;0.999|.	T|T	0.74109|0.74109	-0.3771|-0.3771	10|5	0.51188|.	T|.	0.08|.	.|.	13.6025|13.6025	0.62029|0.62029	0.0:0.155:0.845:0.0|0.0:0.155:0.845:0.0	.|.	254;2226;4524|.	F5H7B7;Q86UQ4-3;Q86UQ4|.	.;.;ABCAD_HUMAN|.	T|H	4524;297;254|44	ENSP00000411096:A4524T;ENSP00000391042:A297T;ENSP00000442634:A254T|.	ENSP00000391042:A297T|.	A|R	+|+	1|2	0|0	ABCA13|ABCA13	48521271|48521271	0.999000|0.999000	0.42202|0.42202	0.848000|0.848000	0.33437|0.33437	0.879000|0.879000	0.50718|0.50718	3.349000|3.349000	0.52217|0.52217	1.251000|1.251000	0.43983|0.43983	0.563000|0.563000	0.77884|0.77884	GCC|CGC		0.448	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341964.2	NM_152701		8	27	0	0	0	1	0	8	27					A	48550725	G	A	48550725	3	1	365	1	0	0	0	0	1	0	0	0	31	1087	38	1	13601	1	ABCA13	7	48550725	Missense_Mutation	SNP	G	TCGA-TK-A8OK-01A-22D-A364-08	43201856	48550725	110587938	24	18217											
FAM83H	286077	broad.mit.edu	37	chr8	144810218	144810218	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ccgcgaagcttctcgaacagGccttgcgggcgcgccggcgt	5	6	15	15	8	1	0	0	0	1	0	2	2	1	0	3	3	3	1	3	3	2	2			TCGA-TK-A8OK-01A-22D-A364-08	TCGA-TK-A8OK-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a5f0491-82d8-49de-8420-fa14d8185bdc	577739c4-abfc-466f-9bce-1bbb1f35040b	g.chr8:144810218G>A	ENST00000388913.3	-	5	1538	c.1413C>T	c.(1411-1413)ggC>ggT	p.G471G		NM_198488.3	NP_940890	Q6ZRV2	FA83H_HUMAN	family with sequence similarity 83, member H	471					biomineral tissue development (GO:0031214)					central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(12)|pancreas(1)|prostate(3)|urinary_tract(1)	21	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			TCTCGAACAGGCCTTGCGGGC	0.716																																						ENST00000388913.3																			0				central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(12)|pancreas(1)|prostate(3)|urinary_tract(1)	21						c.(1411-1413)ggC>ggT		family with sequence similarity 83, member H							23	33	29					8																	144810218		2019	4144	6163	SO:0001819	synonymous_variant	286077				biomineral tissue development			g.chr8:144810218G>A	AK127960	CCDS6410.2	8q24.3	2014-03-13			ENSG00000180921	ENSG00000180921			24797	protein-coding gene	gene with protein product		611927				18252228	Standard	NM_198488		Approved	FLJ46072	uc003yzk.3	Q6ZRV2	OTTHUMG00000133559	ENST00000388913.3:c.1413C>T	8.37:g.144810218G>A							p.G471G	NM_198488.3	NP_940890.3	Q6ZRV2	FA83H_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)		5	1538	-	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		471					A0JLS2|Q8N4W0	Silent	SNP	ENST00000388913.3	37	c.1413C>T	CCDS6410.2																																																																																				0.716	FAM83H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257632.2	NM_198488		3	5	0	0	0	1	0	3	5					A	144810218	G	A	144810218	2	1	365	1	0	0	0	0	0	0	0	1	5640	1190	42	3		3	FAM83H	8	144810218	Silent	SNP	G	TCGA-TK-A8OK-01A-22D-A364-08		144810218	1553804	25	18218											
ZNF169	169841	broad.mit.edu	37	chr9	97062646	97062646	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgtgtcctgagtgtgggcGtcggtttagccagaaggcct	5	11	15	10	2	0	2	0	1	0	1	2	2	1	2	4	3	1	1	4	3	2	2			TCGA-TK-A8OK-01A-22D-A364-08	TCGA-TK-A8OK-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a5f0491-82d8-49de-8420-fa14d8185bdc	577739c4-abfc-466f-9bce-1bbb1f35040b	g.chr9:97062646G>A	ENST00000395395.2	+	5	896	c.806G>A	c.(805-807)cGt>cAt	p.R269H	ZNF169_ENST00000340911.4_3'UTR	NM_194320.2	NP_919301.2	Q14929	ZN169_HUMAN	zinc finger protein 169	269					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	24		Acute lymphoblastic leukemia(62;0.136)				GAGTGTGGGCGTCGGTTTAGC	0.567																																						ENST00000395395.2																			0				endometrium(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	24						c.(805-807)cGt>cAt		zinc finger protein 169							73	77	76					9																	97062646		2203	4300	6503	SO:0001583	missense	169841					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr9:97062646G>A	U28322	CCDS6709.2	9q22.32	2014-07-30			ENSG00000175787	ENSG00000175787		"Zinc fingers, C2H2-type", "-"	12957	protein-coding gene	gene with protein product		603404				9186526, 9071574	Standard	NM_001301275		Approved	MGC51961	uc004aum.1	Q14929	OTTHUMG00000020264	ENST00000395395.2:c.806G>A	9.37:g.97062646G>A	ENSP00000378792:p.Arg269His					ZNF169_ENST00000340911.4_3'UTR	p.R269H	NM_194320.2	NP_919301.2	Q14929	ZN169_HUMAN			5	896	+		Acute lymphoblastic leukemia(62;0.136)	269					A2AGP5|A8K127|Q6PI28	Missense_Mutation	SNP	ENST00000395395.2	37	c.806G>A	CCDS6709.2	.	.	.	.	.	.	.	.	.	.	G	4.896	0.166524	0.09339	.	.	ENSG00000175787	ENST00000395395;ENST00000340911	T	0.19669	2.13	2.73	-2.77	0.05877	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.22322	0.0538	M	0.72479	2.2	0.24261	N	0.995287	P	0.42556	0.783	B	0.42245	0.381	T	0.13872	-1.0493	9	0.87932	D	0	.	5.4657	0.16642	0.6012:0.1697:0.2291:0.0	.	269	Q14929	ZN169_HUMAN	H	269;78	ENSP00000378792:R269H	ENSP00000340711:R78H	R	+	2	0	ZNF169	96102467	0.000000	0.05858	0.001000	0.08648	0.009000	0.06853	-0.004000	0.12878	-0.739000	0.04809	-1.087000	0.02190	CGT		0.567	ZNF169-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253714.1	NM_194320		14	49	0	0	0	1	0	14	49					A	97062646	G	A	97062646	3	1	365	1	0	0	0	0	1	0	0	0	17739	1145	40	1	820	1	ZNF169	9	97062646	Missense_Mutation	SNP	G	TCGA-TK-A8OK-01A-22D-A364-08		97062646	44150785	26	18219											
ADARB2	105	broad.mit.edu	37	chr10	1229245	1229245	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcacagactggtaggtgtgcGcccccagcttggcctcacag	7	8	12	14	1	2	1	2	0	0	1	2	1	2	1	3	3	2	2	3	3	1	2			TCGA-TK-A8OK-01A-22D-A364-08	TCGA-TK-A8OK-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a5f0491-82d8-49de-8420-fa14d8185bdc	577739c4-abfc-466f-9bce-1bbb1f35040b	g.chr10:1229245G>A	ENST00000381312.1	-	10	2433	c.2108C>T	c.(2107-2109)gCg>gTg	p.A703V	ADARB2_ENST00000381310.3_Missense_Mutation_p.A212V|ADARB2_ENST00000381305.1_Missense_Mutation_p.A105V	NM_018702.3	NP_061172.1	Q9NS39	RED2_HUMAN	adenosine deaminase, RNA-specific, B2 (non-functional)	703	A to I editase. {ECO:0000255|PROSITE- ProRule:PRU00240}.				mRNA processing (GO:0006397)	nucleus (GO:0005634)	adenosine deaminase activity (GO:0004000)|double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|single-stranded RNA binding (GO:0003727)			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1)	41		all_epithelial(10;0.059)|Colorectal(49;0.0815)		all cancers(11;0.0224)|GBM - Glioblastoma multiforme(2;0.0414)|Epithelial(11;0.165)		GTAGGTGTGCGCCCCCAGCTT	0.592																																						ENST00000381312.1																			0				breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1)	41						c.(2107-2109)gCg>gTg		adenosine deaminase, RNA-specific, B2 (non-functional)							63	59	60					10																	1229245		2203	4300	6503	SO:0001583	missense	105				mRNA processing	mitochondrion|nucleus	adenosine deaminase activity|double-stranded RNA binding|metal ion binding|single-stranded RNA binding	g.chr10:1229245G>A	AF034837	CCDS7058.1	10p15.3	2013-05-20	2013-05-20		ENSG00000185736	ENSG00000185736	3.5.-.-		227	protein-coding gene	gene with protein product	"RED2 homolog (rat)"	602065	"adenosine deaminase, RNA-specific, B2 (RED2 homolog rat)", "adenosine deaminase, RNA-specific, B2"			9272162, 10836796	Standard	NM_018702		Approved	RED2, hRED2, ADAR3	uc009xhq.3	Q9NS39	OTTHUMG00000017543	ENST00000381312.1:c.2108C>T	10.37:g.1229245G>A	ENSP00000370713:p.Ala703Val					ADARB2_ENST00000381305.1_Missense_Mutation_p.A105V|ADARB2_ENST00000381310.3_Missense_Mutation_p.A212V	p.A703V	NM_018702.3	NP_061172.1	Q9NS39	RED2_HUMAN		all cancers(11;0.0224)|GBM - Glioblastoma multiforme(2;0.0414)|Epithelial(11;0.165)	10	2433	-		all_epithelial(10;0.059)|Colorectal(49;0.0815)	703			A to I editase.		B2RPJ5|Q5VUT6|Q5VW42	Missense_Mutation	SNP	ENST00000381312.1	37	c.2108C>T	CCDS7058.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.049338	0.75846	.	.	ENSG00000185736	ENST00000381312;ENST00000381310;ENST00000381305	D;D;D	0.94862	-3.54;-3.54;-3.54	5.32	5.32	0.75619	Adenosine deaminase/editase (3);	0.104162	0.64402	D	0.000003	D	0.96488	0.8854	M	0.70787	2.145	0.58432	D	0.999998	D;D;D	0.89917	0.995;0.999;1.0	P;P;D	0.87578	0.559;0.622;0.998	D	0.95478	0.8558	10	0.34782	T	0.22	-24.9767	13.9181	0.63914	0.0:0.0:0.8479:0.1521	.	703;105;212	Q9NS39;Q5VW43;Q5VW42	RED2_HUMAN;.;.	V	703;212;105	ENSP00000370713:A703V;ENSP00000370711:A212V;ENSP00000370706:A105V	ENSP00000370706:A105V	A	-	2	0	ADARB2	1219245	1.000000	0.71417	0.961000	0.40146	0.987000	0.75469	6.563000	0.73964	2.502000	0.84385	0.561000	0.74099	GCG		0.592	ADARB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046426.1	NM_018702		12	26	0	0	0	1	0	12	26					A	1229245	G	A	1229245	3	1	365	1	0	0	0	0	1	0	0	0	283	1087	38	1	115	1	ADARB2	10	1229245	Missense_Mutation	SNP	G	TCGA-TK-A8OK-01A-22D-A364-08		1229245	134305502	27	18220											
LGI1	9211	broad.mit.edu	37	chr10	95557115	95557115	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tagttcccagcgtcctgtaaTttatcagtggaacaaagcaa	13	11	8	9	1	1	0	1	0	0	0	3	1	3	1	2	1	3	3	2	1	6	5			TCGA-TK-A8OK-01A-22D-A364-08	TCGA-TK-A8OK-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a5f0491-82d8-49de-8420-fa14d8185bdc	577739c4-abfc-466f-9bce-1bbb1f35040b	g.chr10:95557115T>C	ENST00000371418.4	+	8	1489	c.1229T>C	c.(1228-1230)aTt>aCt	p.I410T	LGI1_ENST00000542308.1_Missense_Mutation_p.I362T|LGI1_ENST00000371413.3_Intron	NM_005097.2	NP_005088.1	O95970	LGI1_HUMAN	leucine-rich, glioma inactivated 1	410					axon guidance (GO:0007411)|cell proliferation (GO:0008283)|nervous system development (GO:0007399)|neuron projection development (GO:0031175)|positive regulation of cell growth (GO:0030307)|positive regulation of synaptic transmission (GO:0050806)|protein homooligomerization (GO:0051260)	cell junction (GO:0030054)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|synapse (GO:0045202)	receptor binding (GO:0005102)	p.I410T(1)		central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(18)|ovary(2)|skin(1)	29		Colorectal(252;0.124)				CGTCCTGTAATTTATCAGTGG	0.423																																						ENST00000371418.4																			1	Substitution - Missense(1)	p.I410T(1)	lung(1)	central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(18)|ovary(2)|skin(1)	29						c.(1228-1230)aTt>aCt		leucine-rich, glioma inactivated 1							110	98	102					10																	95557115		2203	4300	6503	SO:0001583	missense	9211				axon guidance|cell proliferation|positive regulation of cell growth|positive regulation of synaptic transmission	cell junction|extracellular space|synapse	receptor binding	g.chr10:95557115T>C	AF055636	CCDS7431.1	10q24	2008-08-01	2002-06-05		ENSG00000108231	ENSG00000108231			6572	protein-coding gene	gene with protein product		604619	"epilepsy, partial"	EPT		9879993, 11978770, 15079011	Standard	NM_005097		Approved	IB1099, ETL1, EPITEMPIN	uc001kjc.4	O95970	OTTHUMG00000018777	ENST00000371418.4:c.1229T>C	10.37:g.95557115T>C	ENSP00000360472:p.Ile410Thr					LGI1_ENST00000542308.1_Missense_Mutation_p.I362T|LGI1_ENST00000371413.3_Intron	p.I410T	NM_005097.2	NP_005088.1	O95970	LGI1_HUMAN			8	1489	+		Colorectal(252;0.124)	410					A8K0Z1|B4E1S0|Q5W001|Q5W002|Q8NI23|Q96LF5	Missense_Mutation	SNP	ENST00000371418.4	37	c.1229T>C	CCDS7431.1	.	.	.	.	.	.	.	.	.	.	T	17.07	3.296106	0.60086	.	.	ENSG00000108231	ENST00000542308;ENST00000371418	D;D	0.86497	-2.13;-2.13	5.17	5.17	0.71159	.	0.156350	0.56097	D	0.000028	D	0.90317	0.6971	L	0.59436	1.845	0.80722	D	1	P;D	0.59357	0.952;0.985	P;P	0.57009	0.523;0.811	D	0.91483	0.5206	10	0.87932	D	0	-11.7938	15.1922	0.73053	0.0:0.0:0.0:1.0	.	362;410	O95970-3;O95970	.;LGI1_HUMAN	T	362;410	ENSP00000440763:I362T;ENSP00000360472:I410T	ENSP00000360472:I410T	I	+	2	0	LGI1	95547105	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.868000	0.87116	2.168000	0.68352	0.533000	0.62120	ATT		0.423	LGI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049445.1	NM_005097		22	60	0	0	0	1	0	22	60					C	95557115	T	C	95557115	3	2	365	1	0	0	0	0	1	0	0	0	8751	1493	52	4	1259	4	LGI1	10	95557115	Missense_Mutation	SNP	T	TCGA-TK-A8OK-01A-22D-A364-08	94327870	95557115	39977632	28	18221											
NPS	594857	broad.mit.edu	37	chr10	129350860	129350860	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gtcctttcgcaatggagttgGcacagggatgaaaaaaactt	13	10	11	7	1	0	1	0	1	0	0	2	3	1	3	1	3	1	3	1	3	4	3			TCGA-TK-A8OK-01A-22D-A364-08	TCGA-TK-A8OK-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a5f0491-82d8-49de-8420-fa14d8185bdc	577739c4-abfc-466f-9bce-1bbb1f35040b	g.chr10:129350860G>A	ENST00000398023.1	+	3	247	c.227G>A	c.(226-228)gGc>gAc	p.G76D		NM_001030013.1	NP_001025184.1	P0C0P6	NPS_HUMAN	neuropeptide S	76					neuropeptide signaling pathway (GO:0007218)|positive regulation of action potential (GO:0045760)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|visual learning (GO:0008542)	extracellular region (GO:0005576)				haematopoietic_and_lymphoid_tissue(1)|lung(4)	5						AATGGAGTTGGCACAGGGATG	0.418																																						ENST00000398023.1																			0				haematopoietic_and_lymphoid_tissue(1)|lung(4)	5						c.(226-228)gGc>gAc		neuropeptide S							163	160	161					10																	129350860		1861	4103	5964	SO:0001583	missense	594857				neuropeptide signaling pathway	extracellular region		g.chr10:129350860G>A	BC148465	CCDS41577.1	10q26.2	2013-02-26			ENSG00000214285	ENSG00000214285		"Endogenous ligands"	33940	protein-coding gene	gene with protein product	"prepro-neuropeptide S"	609513				18181564, 15312648	Standard	NM_001030013		Approved		uc001ljx.1	P0C0P6		ENST00000398023.1:c.227G>A	10.37:g.129350860G>A	ENSP00000381105:p.Gly76Asp						p.G76D	NM_001030013.1	NP_001025184.1	P0C0P6	NPS_HUMAN			3	247	+			76						Missense_Mutation	SNP	ENST00000398023.1	37	c.227G>A	CCDS41577.1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.501980	0.85176	.	.	ENSG00000214285	ENST00000398023	T	0.69306	-0.39	5.59	5.59	0.84812	.	0.000000	0.31949	U	0.006805	D	0.83538	0.5276	.	.	.	0.48341	D	0.999633	D	0.76494	0.999	D	0.75484	0.986	D	0.85230	0.1032	9	0.87932	D	0	-10.1784	19.5844	0.95485	0.0:0.0:1.0:0.0	.	76	P0C0P6	NPS_HUMAN	D	76	ENSP00000381105:G76D	ENSP00000381105:G76D	G	+	2	0	NPS	129240850	1.000000	0.71417	0.994000	0.49952	0.986000	0.74619	6.210000	0.72176	2.638000	0.89438	0.585000	0.79938	GGC		0.418	NPS-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001030013		39	110	0	0	0	1	0	39	110					A	129350860	G	A	129350860	3	1	365	1	0	0	0	0	1	0	0	0	10599	1203	42	3	237	3	NPS	10	129350860	Missense_Mutation	SNP	G	TCGA-TK-A8OK-01A-22D-A364-08	33793745	129350860	6183887	29	18222											
PRG2	5553	broad.mit.edu	37	chr11	57154994	57154994	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctgaggcagtgggctcgaCgccagtggcctcctgtgaag	6	9	15	11	2	1	2	0	2	1	0	3	3	2	2	3	3	0	2	3	3	1	1	rs146228047		TCGA-TK-A8OK-01A-22D-A364-08	TCGA-TK-A8OK-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a5f0491-82d8-49de-8420-fa14d8185bdc	577739c4-abfc-466f-9bce-1bbb1f35040b	g.chr11:57154994C>T	ENST00000311862.5	-	6	696	c.623G>A	c.(622-624)cGt>cAt	p.R208H	PRG2_ENST00000525955.1_Missense_Mutation_p.R208H|PRG2_ENST00000533605.1_Missense_Mutation_p.R197H	NM_001243245.1|NM_002728.4	NP_001230174.1|NP_002719.3	P13727	PRG2_HUMAN	proteoglycan 2, bone marrow (natural killer cell activator, eosinophil granule major basic protein)	208	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				defense response to bacterium (GO:0042742)|defense response to nematode (GO:0002215)|immune response (GO:0006955)|negative regulation of interleukin-10 production (GO:0032693)|positive regulation of interleukin-4 production (GO:0032753)	cytoplasmic vesicle (GO:0031410)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	carbohydrate binding (GO:0030246)|heparin binding (GO:0008201)			central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(4)	10				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	Sargramostim(DB00020)	GTGGGCTCGACGCCAGTGGCC	0.587																																						ENST00000311862.5																			0				central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(4)	10						c.(622-624)cGt>cAt		proteoglycan 2, bone marrow (natural killer cell activator, eosinophil granule major basic protein)							68	68	68					11																	57154994		2201	4296	6497	SO:0001583	missense	5553							g.chr11:57154994C>T	BC005929	CCDS7955.1, CCDS58133.1	11q12	2005-11-25				ENSG00000186652			9362	protein-coding gene	gene with protein product		605601				1565101	Standard	NM_001243245		Approved	MBP, BMPG		P13727		ENST00000311862.5:c.623G>A	11.37:g.57154994C>T	ENSP00000312134:p.Arg208His					PRG2_ENST00000525955.1_Missense_Mutation_p.R208H|PRG2_ENST00000533605.1_Missense_Mutation_p.R197H	p.R208H	NM_001243245.1|NM_002728.4	NP_001230174.1|NP_002719.3				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	6	696	-								A6XMW0|B2R5I1|P81448|Q14227|Q6ICT2	Missense_Mutation	SNP	ENST00000311862.5	37	c.623G>A	CCDS7955.1	.	.	.	.	.	.	.	.	.	.	C	5.057	0.196159	0.09599	.	.	ENSG00000186652	ENST00000311862;ENST00000533605;ENST00000525955	T;T;T	0.18810	2.19;2.19;2.19	4.81	0.656	0.17844	C-type lectin fold (1);C-type lectin, conserved site (1);C-type lectin-like (1);C-type lectin (3);	0.681378	0.12165	N	0.493585	T	0.18964	0.0455	L	0.58428	1.81	0.09310	N	0.999999	B;B	0.25955	0.017;0.138	B;B	0.26864	0.015;0.074	T	0.28038	-1.0056	10	0.62326	D	0.03	.	4.1936	0.10433	0.0:0.5228:0.1692:0.308	.	197;208	A6XMW0;P13727	.;PRG2_HUMAN	H	208;197;208	ENSP00000312134:R208H;ENSP00000433231:R197H;ENSP00000433016:R208H	ENSP00000312134:R208H	R	-	2	0	PRG2	56911570	0.000000	0.05858	0.008000	0.14137	0.004000	0.04260	-0.638000	0.05452	-0.161000	0.10983	-0.143000	0.13931	CGT		0.587	PRG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392468.1	NM_002728		12	36	0	0	0	1	0	12	36					T	57154994	C	T	57154994	3	4	365	1	0	0	0	0	1	0	0	0	12479	536	19	1	49	1	PRG2	11	57154994	Missense_Mutation	SNP	C	TCGA-TK-A8OK-01A-22D-A364-08		57154994	77851522	30	18223											
C11orf24	53838	broad.mit.edu	37	chr11	68029279	68029279	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggagagttttgtctaccacgGcctgggtgaggggctcagtg	6	10	17	8	1	2	2	1	1	1	1	2	3	2	2	2	5	1	2	2	5	1	3			TCGA-TK-A8OK-01A-22D-A364-08	TCGA-TK-A8OK-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a5f0491-82d8-49de-8420-fa14d8185bdc	577739c4-abfc-466f-9bce-1bbb1f35040b	g.chr11:68029279G>A	ENST00000304271.6	-	4	1586	c.1184C>T	c.(1183-1185)gCc>gTc	p.A395V	C11orf24_ENST00000530166.1_5'Flank|C11orf24_ENST00000533310.1_Intron	NM_022338.3	NP_071733.1	Q96F05	CK024_HUMAN	chromosome 11 open reading frame 24	395						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(3)|kidney(3)|large_intestine(3)|lung(3)|ovary(1)	13						GTCTACCACGGCCTGGGTGAG	0.587																																					NSCLC(21;855 905 4198 36694)	ENST00000304271.6																			0				endometrium(3)|kidney(3)|large_intestine(3)|lung(3)|ovary(1)	13						c.(1183-1185)gCc>gTc		chromosome 11 open reading frame 24							101	92	95					11																	68029279		2200	4294	6494	SO:0001583	missense	53838					integral to membrane		g.chr11:68029279G>A	AF264781	CCDS8180.1, CCDS73338.1	11q13.2	2014-01-08			ENSG00000171067	ENSG00000171067			1174	protein-coding gene	gene with protein product		610880				11401438, 24312644	Standard	NM_022338		Approved	DM4E3	uc001onr.4	Q96F05	OTTHUMG00000167478	ENST00000304271.6:c.1184C>T	11.37:g.68029279G>A	ENSP00000307264:p.Ala395Val					C11orf24_ENST00000533310.1_Intron	p.A395V	NM_022338.3	NP_071733.1	Q96F05	CK024_HUMAN			4	1586	-			395					Q9H2K4	Missense_Mutation	SNP	ENST00000304271.6	37	c.1184C>T	CCDS8180.1	.	.	.	.	.	.	.	.	.	.	G	17.83	3.486281	0.63962	.	.	ENSG00000171067	ENST00000304271	T	0.31769	1.48	4.89	1.63	0.23807	.	0.571965	0.13605	N	0.375588	T	0.19886	0.0478	L	0.43152	1.355	0.09310	N	0.999994	P	0.39311	0.667	B	0.32928	0.155	T	0.09975	-1.0650	10	0.36615	T	0.2	-3.8734	5.7176	0.17968	0.1947:0.0:0.5903:0.2151	.	395	Q96F05	CK024_HUMAN	V	395	ENSP00000307264:A395V	ENSP00000307264:A395V	A	-	2	0	C11orf24	67785855	0.014000	0.17966	0.001000	0.08648	0.010000	0.07245	1.693000	0.37742	0.475000	0.27415	0.484000	0.47621	GCC		0.587	C11orf24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394750.1	NM_022338		16	42	0	0	0	1	0	16	42					A	68029279	G	A	68029279	3	1	365	1	0	0	0	0	1	0	0	0	1635	1203	42	3	169	3	C11orf24	11	68029279	Missense_Mutation	SNP	G	TCGA-TK-A8OK-01A-22D-A364-08	10874285	68029279	66977237	31	18224											
FAT3	120114	broad.mit.edu	37	chr11	92624013	92624013	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctcctcacccattccccaacGaaacggatttggtgggcccg	8	8	9	16	3	1	0	1	0	0	0	3	2	3	1	5	3	2	0	5	3	2	2			TCGA-TK-A8OK-01A-22D-A364-08	TCGA-TK-A8OK-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a5f0491-82d8-49de-8420-fa14d8185bdc	577739c4-abfc-466f-9bce-1bbb1f35040b	g.chr11:92624013G>A	ENST00000298047.6	+	27	13521	c.13504G>A	c.(13504-13506)Gaa>Aaa	p.E4502K	FAT3_ENST00000525166.1_Missense_Mutation_p.E4352K|FAT3_ENST00000409404.2_Missense_Mutation_p.E4470K|FAT3_ENST00000533797.1_Missense_Mutation_p.E805K|FAT3_ENST00000489716.1_3'UTR			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	4502	Pro-rich.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				ATTCCCCAACGAAACGGATTT	0.592										TCGA Ovarian(4;0.039)																												ENST00000298047.6																			0				NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85						c.(13504-13506)Gaa>Aaa		FAT atypical cadherin 3							40	42	41					11																	92624013		1965	4139	6104	SO:0001583	missense	120114				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr11:92624013G>A	AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"Cadherins / Cadherin-related"	23112	protein-coding gene	gene with protein product	"cadherin-related family member 10"	612483	"FAT tumor suppressor homolog 3 (Drosophila)"			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.13504G>A	11.37:g.92624013G>A	ENSP00000298047:p.Glu4502Lys	TCGA Ovarian(4;0.039)				FAT3_ENST00000525166.1_Missense_Mutation_p.E4352K|FAT3_ENST00000489716.1_3'UTR|FAT3_ENST00000533797.1_Missense_Mutation_p.E805K|FAT3_ENST00000409404.2_Missense_Mutation_p.E4470K	p.E4502K			Q8TDW7	FAT3_HUMAN			27	13521	+		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)	4502			Pro-rich.		B5MDB0|Q96AU6	Missense_Mutation	SNP	ENST00000298047.6	37	c.13504G>A		.	.	.	.	.	.	.	.	.	.	G	32	5.126139	0.94429	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000525166;ENST00000533797	T;T;T;T	0.29917	1.55;1.55;1.55;1.55	5.66	5.66	0.87406	.	.	.	.	.	T	0.44117	0.1278	M	0.61703	1.905	0.80722	D	1	D;D	0.57571	0.974;0.98	P;P	0.48738	0.458;0.588	T	0.39921	-0.9590	9	0.62326	D	0.03	.	19.756	0.96291	0.0:0.0:1.0:0.0	.	4470;4502	Q8TDW7-3;Q8TDW7	.;FAT3_HUMAN	K	4502;4470;4352;805	ENSP00000298047:E4502K;ENSP00000387040:E4470K;ENSP00000432586:E4352K;ENSP00000436399:E805K	ENSP00000298047:E4502K	E	+	1	0	FAT3	92263661	1.000000	0.71417	0.953000	0.39169	0.929000	0.56500	4.722000	0.61958	2.665000	0.90641	0.655000	0.94253	GAA		0.592	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781		9	22	0	0	0	1	0	9	22					A	92624013	G	A	92624013	3	1	365	1	0	0	0	0	1	0	0	0	5691	1059	37	2	13506	2	FAT3	11	92624013	Missense_Mutation	SNP	G	TCGA-TK-A8OK-01A-22D-A364-08	24594734	92624013	42382503	32	18225											
FLI1	2313	broad.mit.edu	37	chr11	128680406	128680406	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctggagctgctctccgacagCgccaacgccagctgtatcac	8	7	10	16	3	2	0	1	0	1	0	3	2	2	1	3	1	5	4	3	1	2	1			TCGA-TK-A8OK-01A-22D-A364-08	TCGA-TK-A8OK-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a5f0491-82d8-49de-8420-fa14d8185bdc	577739c4-abfc-466f-9bce-1bbb1f35040b	g.chr11:128680406C>T	ENST00000527786.2	+	9	1371	c.882C>T	c.(880-882)agC>agT	p.S294S	FLI1_ENST00000344954.6_Silent_p.S261S|FLI1_ENST00000534087.2_Silent_p.S261S|FLI1_ENST00000525560.1_Silent_p.S101S|FLI1_ENST00000281428.8_Silent_p.S228S	NM_001271010.1|NM_002017.4	NP_001257939.1|NP_002008.2	Q01543	FLI1_HUMAN	Fli-1 proto-oncogene, ETS transcription factor	294				S -> N (in Ref. 8; BAG61938). {ECO:0000305}.	blood circulation (GO:0008015)|cell differentiation (GO:0030154)|hemostasis (GO:0007599)|megakaryocyte development (GO:0035855)|organ morphogenesis (GO:0009887)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)		EWSR1/FLI1(2569)	NS(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(2)	31	all_hematologic(175;0.0641)	Lung NSC(97;0.00588)|all_lung(97;0.00764)|Breast(109;0.0115)|Medulloblastoma(222;0.0523)|all_neural(223;0.0862)|all_hematologic(192;0.182)		OV - Ovarian serous cystadenocarcinoma(99;0.01)|LUSC - Lung squamous cell carcinoma(976;0.0324)|Lung(977;0.0327)		TCTCCGACAGCGCCAACGCCA	0.627			T	EWSR1	Ewing sarcoma																																	ENST00000344954.6				Dom	yes		11	11q24	2313	T	Friend leukemia virus integration 1			M	EWSR1		Ewing sarcoma	EWSR1/FLI1(2569)	0				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(2)	31						c.(781-783)agC>agT		Fli-1 proto-oncogene, ETS transcription factor							17	19	19					11																	128680406		2180	4292	6472	SO:0001819	synonymous_variant	2313				hemostasis|organ morphogenesis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr11:128680406C>T	M98833	CCDS44768.1, CCDS53725.1, CCDS59230.1, CCDS59231.1	11q24.1-q24.3	2014-09-17	2013-08-07		ENSG00000151702	ENSG00000151702			3749	protein-coding gene	gene with protein product		193067	"Friend leukemia virus integration 1"			1765382	Standard	NM_001167681		Approved	SIC-1, EWSR2	uc010sbu.2	Q01543	OTTHUMG00000165792	ENST00000527786.2:c.882C>T	11.37:g.128680406C>T						FLI1_ENST00000525560.1_Silent_p.S101S|FLI1_ENST00000534087.1_Silent_p.S261S|FLI1_ENST00000281428.8_Silent_p.S228S|FLI1_ENST00000429175.2_Silent_p.S294S	p.S261S			Q01543	FLI1_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.01)|LUSC - Lung squamous cell carcinoma(976;0.0324)|Lung(977;0.0327)	9	1171	+	all_hematologic(175;0.0641)	Lung NSC(97;0.00588)|all_lung(97;0.00764)|Breast(109;0.0115)|Medulloblastoma(222;0.0523)|all_neural(223;0.0862)|all_hematologic(192;0.182)	294					B2R8H2|B4DFV4|B4DTC6|G3V183|Q14319|Q92480|Q9UE07	Silent	SNP	ENST00000527786.2	37	c.783C>T	CCDS44768.1																																																																																				0.627	FLI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386226.2	NM_002017		3	12	0	0	0	1	0	3	12					T	128680406	C	T	128680406	2	4	365	1	0	0	0	0	0	0	0	1	5924	767	27	1		1	FLI1	11	128680406	Silent	SNP	C	TCGA-TK-A8OK-01A-22D-A364-08	36056393	128680406	6326110	33	18226											
NTM	50863	broad.mit.edu	37	chr11	132016375	132016375	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cggtgcagacagacaaccacCcaaagacctctagggtccac	13	4	9	15	1	1	3	0	0	1	3	2	3	2	3	4	2	2	1	4	2	3	1			TCGA-TK-A8OK-01A-22D-A364-08	TCGA-TK-A8OK-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a5f0491-82d8-49de-8420-fa14d8185bdc	577739c4-abfc-466f-9bce-1bbb1f35040b	g.chr11:132016375C>T	ENST00000374786.1	+	2	846	c.367C>T	c.(367-369)Cca>Tca	p.P123S	NTM_ENST00000374791.3_Missense_Mutation_p.P123S|NTM_ENST00000427481.2_Missense_Mutation_p.P114S|NTM_ENST00000539799.1_Missense_Mutation_p.P123S|NTM_ENST00000374784.1_Missense_Mutation_p.P123S|NTM_ENST00000425719.2_Missense_Mutation_p.P123S	NM_001144058.1|NM_016522.2	NP_001137530.1|NP_057606.1	Q9P121	NTRI_HUMAN	neurotrimin	123	Ig-like C2-type 1.				cell adhesion (GO:0007155)|neuron recognition (GO:0008038)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(9)|lung(30)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	56						AGACAACCACCCAAAGACCTC	0.572																																						ENST00000374786.1																			0				breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(9)|lung(30)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	56						c.(367-369)Cca>Tca		neurotrimin							115	84	95					11																	132016375		2201	4297	6498	SO:0001583	missense	50863				cell adhesion|neuron recognition	anchored to membrane|plasma membrane		g.chr11:132016375C>T	AF126426	CCDS8491.1, CCDS41733.1, CCDS44777.1, CCDS44778.1	11q25	2013-01-11			ENSG00000182667	ENSG00000182667		"Immunoglobulin superfamily / I-set domain containing"	17941	protein-coding gene	gene with protein product	"neurotrimin", "IgLON family member 2"	607938				7891157	Standard	NM_001048209		Approved	HNT, NTRI, IGLON2	uc001qgq.3	Q9P121	OTTHUMG00000066364	ENST00000374786.1:c.367C>T	11.37:g.132016375C>T	ENSP00000363918:p.Pro123Ser					NTM_ENST00000539799.1_Missense_Mutation_p.P123S|NTM_ENST00000425719.2_Missense_Mutation_p.P123S|NTM_ENST00000427481.2_Missense_Mutation_p.P114S|NTM_ENST00000374784.1_Missense_Mutation_p.P123S|NTM_ENST00000374791.3_Missense_Mutation_p.P123S	p.P123S	NM_001144058.1|NM_016522.2	NP_001137530.1|NP_057606.1	Q9P121	NTRI_HUMAN			2	846	+			123			Ig-like C2-type 1.		A0MTT2|Q6UXJ3|Q86VJ9	Missense_Mutation	SNP	ENST00000374786.1	37	c.367C>T	CCDS8491.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.144548	0.77888	.	.	ENSG00000182667	ENST00000374791;ENST00000539799;ENST00000550167;ENST00000427481;ENST00000374786;ENST00000425719;ENST00000374784	T;T;T;T;T;T;T	0.64260	-0.09;-0.09;-0.09;-0.09;-0.09;-0.09;-0.09	5.58	5.58	0.84498	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.80717	0.4676	M	0.82132	2.575	0.80722	D	1	D;P;D;P;P;D	0.65815	0.995;0.87;0.958;0.942;0.849;0.984	D;D;P;D;P;P	0.67382	0.951;0.934;0.835;0.919;0.55;0.868	T	0.82372	-0.0490	10	0.66056	D	0.02	-13.4348	19.5604	0.95369	0.0:1.0:0.0:0.0	.	123;114;123;123;123;123	B7Z1Z5;B7Z1I4;Q9P121-4;Q9P121;Q9P121-3;Q9P121-2	.;.;.;NTRI_HUMAN;.;.	S	123;123;114;114;123;123;123	ENSP00000363923:P123S;ENSP00000437668:P123S;ENSP00000448104:P114S;ENSP00000416320:P114S;ENSP00000363918:P123S;ENSP00000396722:P123S;ENSP00000363916:P123S	ENSP00000363916:P123S	P	+	1	0	NTM	131521585	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.024000	0.70857	2.631000	0.89168	0.655000	0.94253	CCA		0.572	NTM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000141937.1	NM_016522		11	35	0	0	0	1	0	11	35					T	132016375	C	T	132016375	3	4	365	1	0	0	0	0	1	0	0	0	10699	623	22	3	459	3	NTM	11	132016375	Missense_Mutation	SNP	C	TCGA-TK-A8OK-01A-22D-A364-08	3335969	132016375	2990141	34	18227											
ARID2	196528	broad.mit.edu	37	chr12	46245717	46245717	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagtcatggagaacccgtccTgccgacgaggagccacaaac	13	4	11	13	3	1	1	1	0	0	1	2	5	2	2	4	2	4	0	4	2	3	0			TCGA-TK-A8OK-01A-22D-A364-08	TCGA-TK-A8OK-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a5f0491-82d8-49de-8420-fa14d8185bdc	577739c4-abfc-466f-9bce-1bbb1f35040b	g.chr12:46245717T>G	ENST00000334344.6	+	15	3983	c.3811T>G	c.(3811-3813)Tgc>Ggc	p.C1271G	ARID2_ENST00000479608.1_3'UTR|ARID2_ENST00000422737.1_Missense_Mutation_p.C1122G|ARID2_ENST00000457135.1_5'Flank|ARID2_ENST00000444670.1_Missense_Mutation_p.C881G	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	1271					chromatin modification (GO:0016568)|nucleosome disassembly (GO:0006337)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		GAACCCGTCCTGCCGACGAGG	0.423			"N, S, F"		hepatocellular carcinoma																																	ENST00000334344.6				Rec	yes		12	12q12	196528	"N, S, F"	AT rich interactive domain 2			E			hepatocellular carcinoma		0				NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116						c.(3811-3813)Tgc>Ggc		AT rich interactive domain 2 (ARID, RFX-like)							52	51	52					12																	46245717		2203	4300	6503	SO:0001583	missense	196528				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr12:46245717T>G		CCDS31783.1	12q13.11	2013-02-07			ENSG00000189079	ENSG00000189079		"-"	18037	protein-coding gene	gene with protein product		609539					Standard	NM_152641		Approved	KIAA1557, DKFZp686G052, FLJ30619, BAF200	uc001ros.1	Q68CP9	OTTHUMG00000150487	ENST00000334344.6:c.3811T>G	12.37:g.46245717T>G	ENSP00000335044:p.Cys1271Gly					ARID2_ENST00000444670.1_Missense_Mutation_p.C881G|ARID2_ENST00000422737.1_Missense_Mutation_p.C1122G|ARID2_ENST00000479608.1_3'UTR	p.C1271G	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)	15	3983	+	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	1271					Q15KG9|Q5EB51|Q645I3|Q6ZRY5|Q7Z3I5|Q86T28|Q96SJ6|Q9HCL5	Missense_Mutation	SNP	ENST00000334344.6	37	c.3811T>G	CCDS31783.1	.	.	.	.	.	.	.	.	.	.	T	12.02	1.811657	0.32053	.	.	ENSG00000189079	ENST00000334344;ENST00000549153;ENST00000338636;ENST00000422737;ENST00000444670	T	0.32988	1.43	6.17	6.17	0.99709	.	0.138871	0.64402	D	0.000002	T	0.35248	0.0925	L	0.27053	0.805	0.80722	D	1	P;D;P	0.56035	0.949;0.974;0.915	P;P;B	0.51415	0.465;0.669;0.217	T	0.11470	-1.0586	10	0.87932	D	0	-3.5913	16.8222	0.85835	0.0:0.0:0.0:1.0	.	1271;881;1271	Q68CP9-3;F8W108;Q68CP9	.;.;ARID2_HUMAN	G	1271;388;388;1122;881	ENSP00000335044:C1271G	ENSP00000335044:C1271G	C	+	1	0	ARID2	44531984	1.000000	0.71417	1.000000	0.80357	0.892000	0.51952	2.321000	0.43805	2.371000	0.80710	0.533000	0.62120	TGC		0.423	ARID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318380.2	XM_350875		15	21	0	0	0	1	0	15	21					G	46245717	T	G	46245717	3	3	365	1	0	0	0	0	1	0	0	0	915	1580	55	5	3869	5	ARID2	12	46245717	Missense_Mutation	SNP	T	TCGA-TK-A8OK-01A-22D-A364-08		46245717	87606178	35	18228											
LETMD1	25875	broad.mit.edu	37	chr12	51442945	51442945	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcatttcccccgcttctatgTcctgtacacaatcttcatga	8	15	4	14	1	4	1	2	1	2	0	6	1	6	1	3	0	1	2	3	0	3	5			TCGA-TK-A8OK-01A-22D-A364-08	TCGA-TK-A8OK-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a5f0491-82d8-49de-8420-fa14d8185bdc	577739c4-abfc-466f-9bce-1bbb1f35040b	g.chr12:51442945T>C	ENST00000262055.4	+	2	290	c.251T>C	c.(250-252)gTc>gCc	p.V84A	LETMD1_ENST00000552739.1_Intron|LETMD1_ENST00000380123.2_Missense_Mutation_p.V84A|LETMD1_ENST00000547008.1_Missense_Mutation_p.V84A|LETMD1_ENST00000548516.1_3'UTR|LETMD1_ENST00000550929.1_Missense_Mutation_p.V28A|LETMD1_ENST00000418425.2_Missense_Mutation_p.V84A	NM_015416.4	NP_056231.3	Q6P1Q0	LTMD1_HUMAN	LETM1 domain containing 1	84	LETM1.|Required and sufficient for mitochondrial import.		V -> I (in dbSNP:rs12379). {ECO:0000269|PubMed:12879013, ECO:0000269|PubMed:17974005, ECO:0000269|Ref.2}.			integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)				central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(4)|skin(1)|urinary_tract(3)	16						CGCTTCTATGTCCTGTACACA	0.398																																						ENST00000418425.2																			0				central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(4)|skin(1)|urinary_tract(3)	16						c.(250-252)gTc>gCc		LETM1 domain containing 1							99	90	93					12																	51442945		2203	4300	6503	SO:0001583	missense	25875					integral to membrane|mitochondrial outer membrane	protein binding	g.chr12:51442945T>C	AF195651	CCDS8806.1, CCDS58231.1, CCDS73469.1	12q13.13	2006-04-12				ENSG00000050426			24241	protein-coding gene	gene with protein product	"cervical cancer 1 protooncogene"					12879013, 12061725	Standard	NM_015416		Approved	HCCR1	uc009zlw.3	Q6P1Q0	OTTHUMG00000169538	ENST00000262055.4:c.251T>C	12.37:g.51442945T>C	ENSP00000262055:p.Val84Ala					LETMD1_ENST00000548516.1_3'UTR|LETMD1_ENST00000552739.1_Intron|LETMD1_ENST00000262055.4_Missense_Mutation_p.V84A|LETMD1_ENST00000550929.1_Missense_Mutation_p.V28A|LETMD1_ENST00000547008.1_Missense_Mutation_p.V84A|LETMD1_ENST00000380123.2_Missense_Mutation_p.V84A	p.V84A	NM_001243689.1	NP_001230618.1	Q6P1Q0	LTMD1_HUMAN			2	270	+			84		V -> I (in dbSNP:rs12379).	LETM1.|Required and sufficient for mitochondrial import.		A6NER7|B3KXK7|Q6X2E4|Q6X2E5|Q7L2G9|Q7L690|Q8WXW6|Q96PK7|Q9BY59|Q9Y3X3	Missense_Mutation	SNP	ENST00000262055.4	37	c.251T>C	CCDS8806.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	9.903|9.903	1.207373|1.207373	0.22205|0.22205	.|.	.|.	ENSG00000050426|ENSG00000050426	ENST00000547256|ENST00000551477;ENST00000550929;ENST00000262055;ENST00000550442;ENST00000549340;ENST00000548209;ENST00000548251;ENST00000380123;ENST00000548401;ENST00000418425;ENST00000448283;ENST00000547008	.|T;T;T;T;T;T;T;T;T;T;T	.|0.45668	.|1.08;1.08;1.08;0.93;0.92;0.89;0.95;0.94;0.93;1.08;0.99	4.78|4.78	2.0|2.0	0.26442|0.26442	.|LETM1-like (1);	.|0.949792	.|0.08768	.|N	.|0.896721	T|T	0.20618|0.20618	0.0496|0.0496	N|N	0.10809|0.10809	0.05|0.05	0.25777|0.25777	N|N	0.98478|0.98478	.|B;B;B;B;B;B	.|0.09022	.|0.002;0.0;0.002;0.001;0.0;0.002	.|B;B;B;B;B;B	.|0.14023	.|0.006;0.002;0.007;0.004;0.002;0.01	T|T	0.29792|0.29792	-1.0000|-1.0000	5|10	.|0.08179	.|T	.|0.78	0.0|0.0	6.7697|6.7697	0.23587|0.23587	0.0:0.2576:0.0:0.7424|0.0:0.2576:0.0:0.7424	.|.	.|84;84;84;84;84;84	.|B7Z9A7;F8VVQ3;B3KXK7;F8W6J0;F8W1Z2;Q6P1Q0	.|.;.;.;.;.;LTMD1_HUMAN	P|A	29|51;28;84;84;84;84;84;84;91;84;84;84	.|ENSP00000446862:V51A;ENSP00000450163:V28A;ENSP00000262055:V84A;ENSP00000448110:V84A;ENSP00000449896:V84A;ENSP00000450275:V84A;ENSP00000447166:V84A;ENSP00000369466:V84A;ENSP00000450082:V91A;ENSP00000389903:V84A;ENSP00000447419:V84A	.|ENSP00000262055:V84A	S|V	+|+	1|2	0|0	LETMD1|LETMD1	49729212|49729212	0.123000|0.123000	0.22298|0.22298	0.973000|0.973000	0.42090|0.42090	0.984000|0.984000	0.73092|0.73092	2.117000|2.117000	0.41939|0.41939	0.277000|0.277000	0.22141|0.22141	0.533000|0.533000	0.62120|0.62120	TCC|GTC		0.398	LETMD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404710.1	NM_015416		12	48	0	0	0	1	0	12	48					C	51442945	T	C	51442945	3	2	365	1	0	0	0	0	1	0	0	0	8736	1667	58	4	257	4	LETMD1	12	51442945	Missense_Mutation	SNP	T	TCGA-TK-A8OK-01A-22D-A364-08	5197228	51442945	82408950	36	18229											
STAB2	55576	broad.mit.edu	37	chr12	104136330	104136330	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagattcgggcctgattgtcTgcgtatgtggcgccgcttct	4	13	14	10	4	2	2	0	1	2	1	3	3	2	2	2	2	1	2	2	2	1	4			TCGA-TK-A8OK-01A-22D-A364-08	TCGA-TK-A8OK-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a5f0491-82d8-49de-8420-fa14d8185bdc	577739c4-abfc-466f-9bce-1bbb1f35040b	g.chr12:104136330T>G	ENST00000388887.2	+	56	6233	c.6029T>G	c.(6028-6030)cTg>cGg	p.L2010R		NM_017564.9	NP_060034.9			stabilin 2											NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						CCTGATTGTCTGCGTATGTGG	0.557																																						ENST00000388887.2																			0				NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						c.(6028-6030)cTg>cGg		stabilin 2							192	171	178					12																	104136330		2203	4300	6503	SO:0001583	missense	55576				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity	g.chr12:104136330T>G	AF160476	CCDS31888.1	12q23.3	2007-01-29				ENSG00000136011			18629	protein-coding gene	gene with protein product	"hyaluronic acid receptor for endocytosis"	608561				11829752, 12077138	Standard	XR_429107		Approved	DKFZP434E0321, FELL, STAB-2, HARE, FEEL-2	uc001tjw.3	Q8WWQ8	OTTHUMG00000170056	ENST00000388887.2:c.6029T>G	12.37:g.104136330T>G	ENSP00000373539:p.Leu2010Arg						p.L2010R	NM_017564.9	NP_060034.9	Q8WWQ8	STAB2_HUMAN			56	6233	+			2010			Laminin EGF-like 2.			Missense_Mutation	SNP	ENST00000388887.2	37	c.6029T>G	CCDS31888.1	.	.	.	.	.	.	.	.	.	.	T	0.664	-0.804725	0.02819	.	.	ENSG00000136011	ENST00000388887;ENST00000258495	T	0.33438	1.41	4.9	3.74	0.42951	EGF-like, laminin (1);Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.356149	0.26331	N	0.024990	T	0.11580	0.0282	N	0.03268	-0.37	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.10613	-1.0622	10	0.15066	T	0.55	.	6.7841	0.23664	0.7826:0.0:0.0769:0.1404	.	2010	Q8WWQ8	STAB2_HUMAN	R	2010;697	ENSP00000373539:L2010R	ENSP00000258495:L697R	L	+	2	0	STAB2	102660460	1.000000	0.71417	0.980000	0.43619	0.046000	0.14306	1.602000	0.36783	0.682000	0.31407	-0.624000	0.04008	CTG		0.557	STAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407089.1			42	115	0	0	0	1	0	42	115					G	104136330	T	G	104136330	3	3	365	1	0	0	0	0	1	0	0	0	15237	1580	55	5	6251	5	STAB2	12	104136330	Missense_Mutation	SNP	T	TCGA-TK-A8OK-01A-22D-A364-08	52693385	104136330	29715565	37	18230											
C14orf159	80017	broad.mit.edu	37	chr14	91639708	91639708	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaggcccattcccaaggacAagctggaagggctggtgcgg	9	6	16	10	1	0	1	0	1	0	0	1	3	1	3	2	6	2	2	2	6	3	1			TCGA-TK-A8OK-01A-22D-A364-08	TCGA-TK-A8OK-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a5f0491-82d8-49de-8420-fa14d8185bdc	577739c4-abfc-466f-9bce-1bbb1f35040b	g.chr14:91639708A>C	ENST00000523771.1	+	6	1120	c.517A>C	c.(517-519)Aag>Cag	p.K173Q	C14orf159_ENST00000428926.2_Missense_Mutation_p.K173Q|C14orf159_ENST00000521077.2_Missense_Mutation_p.K178Q|C14orf159_ENST00000412671.2_Missense_Mutation_p.K178Q|C14orf159_ENST00000523816.1_Missense_Mutation_p.K173Q|C14orf159_ENST00000525393.2_Missense_Mutation_p.K49Q|C14orf159_ENST00000518868.1_Missense_Mutation_p.K178Q|C14orf159_ENST00000256324.10_Missense_Mutation_p.K178Q|C14orf159_ENST00000522322.1_Missense_Mutation_p.K173Q|C14orf159_ENST00000520328.1_Missense_Mutation_p.K173Q			Q7Z3D6	CN159_HUMAN	chromosome 14 open reading frame 159	173						mitochondrion (GO:0005739)				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	21		all_cancers(154;0.0191)|all_epithelial(191;0.241)		Epithelial(152;0.141)|OV - Ovarian serous cystadenocarcinoma(161;0.207)		TCCCAAGGACAAGCTGGAAGG	0.567											OREG0022869	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000518868.1																			0				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	21						c.(532-534)Aag>Cag		chromosome 14 open reading frame 159							59	53	55					14																	91639708		2203	4300	6503	SO:0001583	missense	80017					mitochondrion		g.chr14:91639708A>C	AK097294	CCDS32141.1, CCDS41979.1, CCDS45150.1, CCDS66693.1, CCDS73677.1	14q32.11	2012-09-26			ENSG00000133943	ENSG00000133943			20498	protein-coding gene	gene with protein product							Standard	NM_001102367		Approved	FLJ39975	uc001xze.2	Q7Z3D6	OTTHUMG00000164980	ENST00000523771.1:c.517A>C	14.37:g.91639708A>C	ENSP00000429655:p.Lys173Gln		OREG0022869	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1284	C14orf159_ENST00000520328.1_Missense_Mutation_p.K173Q|C14orf159_ENST00000428926.2_Missense_Mutation_p.K173Q|C14orf159_ENST00000412671.2_Missense_Mutation_p.K178Q|C14orf159_ENST00000256324.10_Missense_Mutation_p.K178Q|C14orf159_ENST00000525393.2_Missense_Mutation_p.K49Q|C14orf159_ENST00000523816.1_Missense_Mutation_p.K173Q|C14orf159_ENST00000523771.1_Missense_Mutation_p.K173Q|C14orf159_ENST00000522322.1_Missense_Mutation_p.K173Q|C14orf159_ENST00000521077.2_Missense_Mutation_p.K178Q	p.K178Q			Q7Z3D6	CN159_HUMAN		Epithelial(152;0.141)|OV - Ovarian serous cystadenocarcinoma(161;0.207)	9	1222	+		all_cancers(154;0.0191)|all_epithelial(191;0.241)	173					B3KUI7|Q86SW3|Q86SX8|Q86SX9|Q86T08|Q86TV5|Q96GW5|Q9H7G0|Q9H8Y9|Q9H9W6	Missense_Mutation	SNP	ENST00000523771.1	37	c.532A>C	CCDS32141.1	.	.	.	.	.	.	.	.	.	.	A	12.63	1.995561	0.35226	.	.	ENSG00000133943	ENST00000520328;ENST00000256324;ENST00000522170;ENST00000519950;ENST00000521077;ENST00000518868;ENST00000523816;ENST00000517518;ENST00000525393;ENST00000428926;ENST00000522322;ENST00000523771;ENST00000412671	T;T;T;T;T;T;T;T;T;T;T;T;T	0.43294	0.95;0.95;0.95;0.95;0.95;0.95;0.95;0.95;0.95;0.95;0.95;0.95;0.95	4.55	0.675	0.17952	.	0.494236	0.21773	N	0.069328	T	0.29524	0.0736	L	0.27975	0.815	0.36398	D	0.862926	B;B;P;P;B;P	0.36412	0.232;0.295;0.552;0.496;0.194;0.496	B;B;B;B;B;B	0.42462	0.172;0.131;0.388;0.269;0.107;0.269	T	0.16748	-1.0392	10	0.32370	T	0.25	.	6.2781	0.20991	0.5771:0.3384:0.0845:0.0	.	173;49;178;173;178;178	Q7Z3D6;Q8NB88;B3KVU6;Q7Z3D6-5;Q7Z3D6-2;Q7Z3D6-3	CN159_HUMAN;.;.;.;.;.	Q	173;178;178;178;178;178;173;178;49;173;173;173;178	ENSP00000429453:K173Q;ENSP00000256324:K178Q;ENSP00000430666:K178Q;ENSP00000428296:K178Q;ENSP00000430137:K178Q;ENSP00000428263:K178Q;ENSP00000428974:K173Q;ENSP00000428652:K178Q;ENSP00000435459:K49Q;ENSP00000404343:K173Q;ENSP00000427953:K173Q;ENSP00000429655:K173Q;ENSP00000404196:K178Q	ENSP00000256324:K178Q	K	+	1	0	C14orf159	90709461	0.989000	0.36119	0.203000	0.23512	0.003000	0.03518	0.490000	0.22403	0.018000	0.15052	-0.441000	0.05720	AAG		0.567	C14orf159-014	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381273.1	NM_024952		4	59	0	0	0	1	0	4	59					C	91639708	A	C	91639708	3	2	365	1	0	0	0	0	1	0	0	0	1755	131	5	5	546	5	C14orf159	14	91639708	Missense_Mutation	SNP	A	TCGA-TK-A8OK-01A-22D-A364-08		91639708	15709832	38	18231											
CCDC88C	440193	broad.mit.edu	37	chr14	91787515	91787515	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agctccccgcacttgaggccGctctcctccaacaccaggga	8	6	9	18	2	1	1	0	1	1	0	4	2	3	2	6	2	2	3	6	2	1	1	rs368539046		TCGA-TK-A8OK-01A-22D-A364-08	TCGA-TK-A8OK-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a5f0491-82d8-49de-8420-fa14d8185bdc	577739c4-abfc-466f-9bce-1bbb1f35040b	g.chr14:91787515G>A	ENST00000389857.6	-	13	1562	c.1476C>T	c.(1474-1476)agC>agT	p.S492S		NM_001080414.3	NP_001073883.2	Q9P219	DAPLE_HUMAN	coiled-coil domain containing 88C	492					protein destabilization (GO:0031648)|protein homooligomerization (GO:0051260)|regulation of protein phosphorylation (GO:0001932)|Wnt signaling pathway (GO:0016055)		PDZ domain binding (GO:0030165)|protein self-association (GO:0043621)			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1)	24		all_cancers(154;0.0468)				ACTTGAGGCCGCTCTCCTCCA	0.627																																						ENST00000389857.6																			0				central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1)	24						c.(1474-1476)agC>agT		coiled-coil domain containing 88C		G		0,4056		0,0,2028	48	49	49		1476	5.4	1	14		49	1,8351		0,1,4175	no	coding-synonymous	CCDC88C	NM_001080414.3		0,1,6203	AA,AG,GG		0.012,0.0,0.0081		492/2029	91787515	1,12407	2028	4176	6204	SO:0001819	synonymous_variant	440193				microtubule cytoskeleton organization|protein destabilization|protein homooligomerization|regulation of protein phosphorylation|Wnt receptor signaling pathway	cytoplasm|insoluble fraction	microtubule binding|PDZ domain binding|protein self-association	g.chr14:91787515G>A		CCDS45151.1	14q32.12	2014-07-30	2007-05-31	2007-05-31		ENSG00000015133			19967	protein-coding gene	gene with protein product	"Dvl-associating protein with a high frequency of leucine residues", "spinocerebellar ataxia 40"	611204	"KIAA1509"	KIAA1509		17185515, 25062847	Standard	NM_001080414		Approved	DAPLE, HkRP2, SCA40	uc010aty.3	Q9P219		ENST00000389857.6:c.1476C>T	14.37:g.91787515G>A							p.S492S	NM_001080414.3	NP_001073883.2	Q9P219	DAPLE_HUMAN			13	1562	-		all_cancers(154;0.0468)	492					Q69YK1|Q7L1M2|Q86SX7|Q8IYG8	Silent	SNP	ENST00000389857.6	37	c.1476C>T	CCDS45151.1																																																																																				0.627	CCDC88C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411650.1	XM_029353		6	18	0	0	0	1	0	6	18					A	91787515	G	A	91787515	2	1	365	1	0	0	0	0	0	0	0	1	2865	1078	38	1		1	CCDC88C	14	91787515	Silent	SNP	G	TCGA-TK-A8OK-01A-22D-A364-08	147807	91787515	15562025	39	18232											
ITGB4	3691	broad.mit.edu	37	chr17	73728052	73728052	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtgatgtgtgcacctgcgagCtggtacaacgcagccccgca	8	7	13	13	3	0	1	0	1	0	0	0	2	0	1	3	1	6	5	3	1	2	1			TCGA-TK-A8OK-01A-22D-A364-08	TCGA-TK-A8OK-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a5f0491-82d8-49de-8420-fa14d8185bdc	577739c4-abfc-466f-9bce-1bbb1f35040b	g.chr17:73728052C>T	ENST00000200181.3	+	11	1562	c.1375C>T	c.(1375-1377)Ctg>Ttg	p.L459L	ITGB4_ENST00000584558.1_3'UTR|ITGB4_ENST00000579662.1_Silent_p.L459L|ITGB4_ENST00000450894.3_Silent_p.L459L|ITGB4_ENST00000449880.2_Silent_p.L459L|ITGB4_ENST00000339591.3_Silent_p.L459L	NM_000213.3	NP_000204.3	P16144	ITB4_HUMAN	integrin, beta 4	459	Cysteine-rich tandem repeats.				amelogenesis (GO:0097186)|autophagy (GO:0006914)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell motility (GO:0048870)|cell-matrix adhesion (GO:0007160)|digestive tract development (GO:0048565)|extracellular matrix organization (GO:0030198)|filopodium assembly (GO:0046847)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|mesodermal cell differentiation (GO:0048333)|nail development (GO:0035878)|renal system development (GO:0072001)|response to wounding (GO:0009611)|skin development (GO:0043588)	basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|hemidesmosome (GO:0030056)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	G-protein coupled receptor binding (GO:0001664)|receptor activity (GO:0004872)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1)	43	all_cancers(13;1.5e-07)		all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			CACCTGCGAGCTGGTACAACG	0.617																																						ENST00000200181.3																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1)	43						c.(1375-1377)Ctg>Ttg		integrin, beta 4							72	60	64					17																	73728052		2203	4300	6503	SO:0001819	synonymous_variant	3691				cell communication|cell motility|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development|response to wounding	cell leading edge|cell surface|hemidesmosome|integrin complex	protein binding|receptor activity	g.chr17:73728052C>T		CCDS11727.1, CCDS32736.1, CCDS58599.1	17q25.1	2013-09-19			ENSG00000132470	ENSG00000132470		"CD molecules", "Integrins", "Fibronectin type III domain containing"	6158	protein-coding gene	gene with protein product		147557				2070796	Standard	XM_005257309		Approved	CD104	uc002jpg.3	P16144	OTTHUMG00000179814	ENST00000200181.3:c.1375C>T	17.37:g.73728052C>T						ITGB4_ENST00000450894.3_Silent_p.L459L|ITGB4_ENST00000579662.1_Silent_p.L459L|ITGB4_ENST00000449880.2_Silent_p.L459L|ITGB4_ENST00000584558.1_3'UTR|ITGB4_ENST00000339591.3_Silent_p.L459L	p.L459L	NM_000213.3	NP_000204.3	P16144	ITB4_HUMAN	all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)		11	1562	+	all_cancers(13;1.5e-07)		459			Cysteine-rich tandem repeats.		A0AVL6|O14690|O14691|O15339|O15340|O15341|Q0VF97|Q9UIQ4	Silent	SNP	ENST00000200181.3	37	c.1375C>T	CCDS11727.1																																																																																				0.617	ITGB4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000448334.1			5	42	0	0	0	1	0	5	42					T	73728052	C	T	73728052	2	4	365	1	0	0	0	0	0	0	0	1	7897	796	28	3		3	ITGB4	17	73728052	Silent	SNP	C	TCGA-TK-A8OK-01A-22D-A364-08		73728052	7467158	40	18233											
RANBP3	8498	broad.mit.edu	37	chr19	5923895	5923895	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgcattttccctgttggcatCtgaactgacctcgtttaatt	7	17	7	10	1	1	2	0	2	1	0	3	2	2	2	2	1	2	4	2	1	2	6	rs202125680		TCGA-TK-A8OK-01A-22D-A364-08	TCGA-TK-A8OK-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a5f0491-82d8-49de-8420-fa14d8185bdc	577739c4-abfc-466f-9bce-1bbb1f35040b	g.chr19:5923895C>G	ENST00000340578.6	-	12	1084	c.1027G>C	c.(1027-1029)Gat>Cat	p.D343H	RANBP3_ENST00000591092.1_Missense_Mutation_p.D270H|RANBP3_ENST00000541471.1_Missense_Mutation_p.D215H|RANBP3_ENST00000439268.2_Missense_Mutation_p.D338H|RANBP3_ENST00000034275.8_Missense_Mutation_p.D275H	NM_003624.2|NM_007320.2|NM_007322.2	NP_003615.2|NP_015559.2|NP_015561.1	Q9H6Z4	RANB3_HUMAN	RAN binding protein 3	343					intracellular transport (GO:0046907)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	R-SMAD binding (GO:0070412)|Ran GTPase binding (GO:0008536)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)	18						CTGTTGGCATCTGAACTGACC	0.557													C|||	1	0.000199681	0	0	5008	,	,		18656	0		0.001	False		,,,				2504	0					ENST00000340578.6																			0				breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)	18						c.(1027-1029)Gat>Cat		RAN binding protein 3		C	HIS/ASP,HIS/ASP,HIS/ASP	0,4274		0,0,2137	67	72	70		1012,823,1027	5.7	0.7	19		70	1,8511		0,1,4255	yes	missense,missense,missense	RANBP3	NM_003624.2,NM_007320.2,NM_007322.2	81,81,81	0,1,6392	GG,GC,CC		0.0117,0.0,0.0078	possibly-damaging,possibly-damaging,possibly-damaging	338/563,275/500,343/568	5923895	1,12785	2137	4256	6393	SO:0001583	missense	8498				intracellular transport|protein transport	cytoplasm|nucleus	Ran GTPase binding	g.chr19:5923895C>G	Y08698	CCDS42477.1, CCDS42478.1, CCDS45935.1, CCDS74268.1	19p13.3	2008-02-05							9850	protein-coding gene	gene with protein product		603327				9637251	Standard	NM_007322		Approved		uc002mdw.3	Q9H6Z4		ENST00000340578.6:c.1027G>C	19.37:g.5923895C>G	ENSP00000341483:p.Asp343His					RANBP3_ENST00000034275.8_Missense_Mutation_p.D275H|RANBP3_ENST00000541471.1_Missense_Mutation_p.D215H|RANBP3_ENST00000439268.2_Missense_Mutation_p.D338H|RANBP3_ENST00000591092.1_Missense_Mutation_p.D270H	p.D343H	NM_003624.2|NM_007320.2|NM_007322.2	NP_003615.2|NP_015559.2|NP_015561.1	Q9H6Z4	RANB3_HUMAN			12	1084	-			343					B2RAT8|O60405|O75759|O75760|Q9BT47|Q9UG74	Missense_Mutation	SNP	ENST00000340578.6	37	c.1027G>C	CCDS42478.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	24.9	4.578487	0.86645	0.0	1.17E-4	ENSG00000031823	ENST00000340578;ENST00000439268;ENST00000034275;ENST00000324807;ENST00000541471	T;T;T;T	0.34472	1.36;1.37;2.11;1.38	5.73	5.73	0.89815	.	0.263772	0.35772	N	0.002989	T	0.54679	0.1873	L	0.53249	1.67	0.58432	D	0.999999	D;D;D;D;D;D;D	0.71674	0.996;0.997;0.977;0.96;0.987;0.998;0.997	D;P;P;P;P;D;P	0.64144	0.914;0.838;0.778;0.778;0.889;0.922;0.838	T	0.52837	-0.8522	10	0.59425	D	0.04	-11.028	17.3865	0.87417	0.0:1.0:0.0:0.0	.	215;338;215;270;275;338;343	F5H4C2;Q53GE1;B7Z5P4;B7Z7F3;Q9H6Z4-3;Q9H6Z4-2;Q9H6Z4	.;.;.;.;.;.;RANB3_HUMAN	H	343;338;275;274;215	ENSP00000341483:D343H;ENSP00000404837:D338H;ENSP00000034275:D275H;ENSP00000445071:D215H	ENSP00000034275:D275H	D	-	1	0	RANBP3	5874895	1.000000	0.71417	0.701000	0.30321	0.892000	0.51952	6.864000	0.75494	2.709000	0.92574	0.563000	0.77884	GAT		0.557	RANBP3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000452304.1	NM_007322		8	69	0	0	0	1	0	8	69					G	5923895	C	G	5923895	3	3	365	1	0	0	0	0	1	0	0	0	13029	913	32	5	700	5	RANBP3	19	5923895	Missense_Mutation	SNP	C	TCGA-TK-A8OK-01A-22D-A364-08		5923895	53205088	41	18234											
NOVA2	4858	broad.mit.edu	37	chr19	46444191	46444191	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcccgccgtgctgttggggaCgatcagcttggcctgcgtgg	3	9	17	12	4	1	0	1	0	0	0	1	2	1	1	3	4	3	3	3	4	0	2			TCGA-TK-A8OK-01A-22D-A364-08	TCGA-TK-A8OK-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a5f0491-82d8-49de-8420-fa14d8185bdc	577739c4-abfc-466f-9bce-1bbb1f35040b	g.chr19:46444191C>T	ENST00000263257.5	-	4	603	c.409G>A	c.(409-411)Gtc>Atc	p.V137I		NM_002516.2	NP_002507.1	Q9UNW9	NOVA2_HUMAN	neuro-oncological ventral antigen 2	137	KH 2. {ECO:0000255|PROSITE- ProRule:PRU00117}.				regulation of RNA metabolic process (GO:0051252)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(3)|large_intestine(5)|lung(13)	21		all_neural(266;0.113)|Ovarian(192;0.127)		OV - Ovarian serous cystadenocarcinoma(262;0.00245)|GBM - Glioblastoma multiforme(486;0.0782)|Epithelial(262;0.179)		CTGTTGGGGACGATCAGCTTG	0.537																																						ENST00000263257.5																			0				endometrium(3)|large_intestine(5)|lung(13)	21						c.(409-411)Gtc>Atc		neuro-oncological ventral antigen 2							23	23	23					19																	46444191		2186	4275	6461	SO:0001583	missense	4858					nucleus	RNA binding	g.chr19:46444191C>T	U70477	CCDS12679.1	19q13.3	2008-07-17				ENSG00000104967			7887	protein-coding gene	gene with protein product	"neuro-oncological ventral antigen 3"	601991		NOVA3		9344654, 10368286	Standard	NM_002516		Approved	ANOVA	uc002pdv.2	Q9UNW9		ENST00000263257.5:c.409G>A	19.37:g.46444191C>T	ENSP00000263257:p.Val137Ile						p.V137I	NM_002516.2	NP_002507.1	Q9UNW9	NOVA2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00245)|GBM - Glioblastoma multiforme(486;0.0782)|Epithelial(262;0.179)	4	603	-		all_neural(266;0.113)|Ovarian(192;0.127)	137			KH 2.		O43267|Q9UEA1	Missense_Mutation	SNP	ENST00000263257.5	37	c.409G>A	CCDS12679.1	.	.	.	.	.	.	.	.	.	.	C	15.99	2.995832	0.54147	.	.	ENSG00000104967	ENST00000263257	T	0.31769	1.48	3.82	3.82	0.43975	K Homology (1);K Homology, type 1, subgroup (1);K Homology, type 1 (1);	0.148584	0.44097	D	0.000490	T	0.42314	0.1197	L	0.36672	1.1	0.58432	D	0.999991	D	0.76494	0.999	D	0.74674	0.984	T	0.17198	-1.0377	10	0.34782	T	0.22	-15.1181	13.2376	0.59979	0.0:1.0:0.0:0.0	.	137	Q9UNW9	NOVA2_HUMAN	I	137	ENSP00000263257:V137I	ENSP00000263257:V137I	V	-	1	0	NOVA2	51136031	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.577000	0.82486	1.994000	0.58287	0.484000	0.47621	GTC		0.537	NOVA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437210.2	NM_002516		8	31	0	0	0	1	0	8	31					T	46444191	C	T	46444191	3	4	365	1	0	0	0	0	1	0	0	0	10555	536	19	1	1073	1	NOVA2	19	46444191	Missense_Mutation	SNP	C	TCGA-TK-A8OK-01A-22D-A364-08	40520296	46444191	12684792	42	18235											
ZNF418	147686	broad.mit.edu	37	chr19	58437682	58437682	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agcaaaggatttcccacattCgctgcactcgtaaggctttc	10	11	8	12	2	0	0	0	0	0	0	4	1	1	1	1	2	2	5	1	2	2	4			TCGA-TK-A8OK-01A-22D-A364-08	TCGA-TK-A8OK-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a5f0491-82d8-49de-8420-fa14d8185bdc	577739c4-abfc-466f-9bce-1bbb1f35040b	g.chr19:58437682C>T	ENST00000396147.1	-	4	2158	c.1867G>A	c.(1867-1869)Gaa>Aaa	p.E623K	ZNF418_ENST00000599852.1_Missense_Mutation_p.E538K|ZNF418_ENST00000599086.1_5'Flank|ZNF418_ENST00000600989.1_Intron|ZNF418_ENST00000595830.1_Missense_Mutation_p.E623K|ZNF418_ENST00000425570.3_Missense_Mutation_p.E644K	NM_133460.1	NP_597717.1	Q8TF45	ZN418_HUMAN	zinc finger protein 418	623					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	31		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0158)		TTCCCACATTCGCTGCACTCG	0.433																																						ENST00000396147.1																			0				cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	31						c.(1867-1869)Gaa>Aaa		zinc finger protein 418							116	119	118					19																	58437682		2201	4299	6500	SO:0001583	missense	147686				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58437682C>T	AB075836, AY695825	CCDS42642.1	19q13.43	2013-01-08				ENSG00000196724		"Zinc fingers, C2H2-type", "-"	20647	protein-coding gene	gene with protein product						11853319	Standard	NM_133460		Approved	KIAA1956, FLJ31551	uc002qqs.1	Q8TF45		ENST00000396147.1:c.1867G>A	19.37:g.58437682C>T	ENSP00000379451:p.Glu623Lys					ZNF418_ENST00000600989.1_Intron|ZNF418_ENST00000599852.1_Missense_Mutation_p.E538K|ZNF418_ENST00000595830.1_Missense_Mutation_p.E623K|ZNF418_ENST00000425570.3_Missense_Mutation_p.E644K	p.E623K	NM_133460.1	NP_597717.1	Q8TF45	ZN418_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0158)	4	2158	-		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)	623					Q2M1S2|Q670L5|Q96N18	Missense_Mutation	SNP	ENST00000396147.1	37	c.1867G>A	CCDS42642.1	.	.	.	.	.	.	.	.	.	.	.	15.37	2.814781	0.50527	.	.	ENSG00000196724	ENST00000396147;ENST00000425570;ENST00000545403	T;T	0.07327	3.2;3.2	2.25	-0.726	0.11170	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.06645	0.0170	L	0.28115	0.83	0.09310	N	1	D	0.61080	0.989	B	0.42771	0.397	T	0.40117	-0.9580	9	0.51188	T	0.08	.	10.2806	0.43537	0.0:0.622:0.3779:0.0	.	623	Q8TF45	ZN418_HUMAN	K	623;644;589	ENSP00000379451:E623K;ENSP00000407039:E644K	ENSP00000379451:E623K	E	-	1	0	ZNF418	63129494	0.000000	0.05858	0.001000	0.08648	0.286000	0.27126	-1.409000	0.02483	0.227000	0.20999	0.305000	0.20034	GAA		0.433	ZNF418-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466693.1	NM_133460		25	80	0	0	0	1	0	25	80					T	58437682	C	T	58437682	3	4	365	1	0	0	0	0	1	0	0	0	17892	893	31	2	167	2	ZNF418	19	58437682	Missense_Mutation	SNP	C	TCGA-TK-A8OK-01A-22D-A364-08	11993491	58437682	691301	43	18236											
NCOA6	23054	broad.mit.edu	37	chr20	33329897	33329897	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cactgttgttaggaaagctcCcaggtacagggggattggcc	9	9	14	9	0	0	0	0	0	0	0	1	2	1	2	2	5	2	4	2	5	3	4			TCGA-TK-A8OK-01A-22D-A364-08	TCGA-TK-A8OK-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a5f0491-82d8-49de-8420-fa14d8185bdc	577739c4-abfc-466f-9bce-1bbb1f35040b	g.chr20:33329897C>T	ENST00000374796.2	-	12	6733	c.4163G>A	c.(4162-4164)gGg>gAg	p.G1388E	NCOA6_ENST00000359003.2_Missense_Mutation_p.G1388E			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	1388					brain development (GO:0007420)|cellular lipid metabolic process (GO:0044255)|cellular response to DNA damage stimulus (GO:0006974)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA-templated transcription, initiation (GO:0006352)|glucocorticoid receptor signaling pathway (GO:0042921)|heart development (GO:0007507)|intracellular estrogen receptor signaling pathway (GO:0030520)|labyrinthine layer blood vessel development (GO:0060716)|myeloid cell differentiation (GO:0030099)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|response to hormone (GO:0009725)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)	histone methyltransferase complex (GO:0035097)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|estrogen receptor binding (GO:0030331)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						AGGAAAGCTCCCAGGTACAGG	0.507																																						ENST00000374796.2																			0				NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						c.(4162-4164)gGg>gAg		nuclear receptor coactivator 6							78	82	81					20																	33329897		2203	4300	6503	SO:0001583	missense	23054				brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding	g.chr20:33329897C>T	AF128458	CCDS13241.1, CCDS74720.1	20q11	2008-08-01			ENSG00000198646	ENSG00000198646			15936	protein-coding gene	gene with protein product	"nuclear receptor coactivator RAP250", "activating signal cointegrator-2", "peroxisome proliferator-activated receptor interacting protein"	605299				8724849, 8263591	Standard	NM_014071		Approved	KIAA0181, RAP250, ASC2, AIB3, PRIP, TRBP, NRC	uc002xaw.3	Q14686	OTTHUMG00000032311	ENST00000374796.2:c.4163G>A	20.37:g.33329897C>T	ENSP00000363929:p.Gly1388Glu					NCOA6_ENST00000359003.2_Missense_Mutation_p.G1388E	p.G1388E			Q14686	NCOA6_HUMAN			12	6733	-			1388					A6NLF1|B2RMN5|E1P5P7|Q9NTZ9|Q9UH74|Q9UK86	Missense_Mutation	SNP	ENST00000374796.2	37	c.4163G>A	CCDS13241.1	.	.	.	.	.	.	.	.	.	.	C	14.35	2.509056	0.44660	.	.	ENSG00000198646	ENST00000374796;ENST00000359003	T;T	0.27557	1.66;1.66	5.33	5.33	0.75918	.	0.166949	0.41823	D	0.000808	T	0.21590	0.0520	N	0.19112	0.55	0.34062	D	0.65745	P	0.45902	0.868	P	0.44860	0.462	T	0.03887	-1.0995	10	0.02654	T	1	-5.1884	15.8349	0.78791	0.0:0.8549:0.1451:0.0	.	1388	Q14686	NCOA6_HUMAN	E	1388	ENSP00000363929:G1388E;ENSP00000351894:G1388E	ENSP00000351894:G1388E	G	-	2	0	NCOA6	32793558	1.000000	0.71417	1.000000	0.80357	0.571000	0.35966	3.915000	0.56409	2.781000	0.95711	0.591000	0.81541	GGG		0.507	NCOA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078811.2	NM_014071		14	40	0	0	0	1	0	14	40					T	33329897	C	T	33329897	3	4	365	1	0	0	0	0	1	0	0	0	10233	623	22	3	2048	3	NCOA6	20	33329897	Missense_Mutation	SNP	C	TCGA-TK-A8OK-01A-22D-A364-08		33329897	29695623	44	18237											
CHD6	84181	broad.mit.edu	37	chr20	40127969	40127969	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tagatgccaggatcttctcaAtgatgtttgcatcatcttct	9	16	7	9	0	5	2	2	1	4	1	6	3	5	3	1	1	2	2	1	1	2	4			TCGA-TK-A8OK-01A-22D-A364-08	TCGA-TK-A8OK-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a5f0491-82d8-49de-8420-fa14d8185bdc	577739c4-abfc-466f-9bce-1bbb1f35040b	g.chr20:40127969A>G	ENST00000373233.3	-	6	1058	c.881T>C	c.(880-882)aTt>aCt	p.I294T	CHD6_ENST00000373222.3_Missense_Mutation_p.I329T|CHD6_ENST00000309279.7_Missense_Mutation_p.I294T	NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	294	Chromo 1. {ECO:0000255|PROSITE- ProRule:PRU00053}.|Required for DNA-dependent ATPase activity.				ATP catabolic process (GO:0006200)|chromatin modification (GO:0016568)|positive regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0036091)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|transcription cofactor binding (GO:0001221)			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				GATCTTCTCAATGATGTTTGC	0.378																																						ENST00000373233.3																			0				breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129						c.(880-882)aTt>aCt		chromodomain helicase DNA binding protein 6							73	60	65					20																	40127969		2203	4300	6503	SO:0001583	missense	0				chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding	g.chr20:40127969A>G	AF525085	CCDS13317.1	20q12	2003-03-07			ENSG00000124177	ENSG00000124177			19057	protein-coding gene	gene with protein product						11889561	Standard	NM_032221		Approved	KIAA1335, FLJ22369, dJ620E11.1, CHD5, RIGB	uc002xka.1	Q8TD26	OTTHUMG00000032487	ENST00000373233.3:c.881T>C	20.37:g.40127969A>G	ENSP00000362330:p.Ile294Thr					CHD6_ENST00000309279.7_Missense_Mutation_p.I294T|CHD6_ENST00000373222.3_Missense_Mutation_p.I329T	p.I294T	NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN			6	1058	-		Myeloproliferative disorder(115;0.00425)	294			Chromo 1.		Q5JYQ0|Q5TGZ9|Q5TH00|Q5TH01|Q8IZR2|Q8WTY0|Q9H4H6|Q9H6D4|Q9NTT7|Q9P2L1	Missense_Mutation	SNP	ENST00000373233.3	37	c.881T>C	CCDS13317.1	.	.	.	.	.	.	.	.	.	.	A	21.4	4.142306	0.77775	.	.	ENSG00000124177	ENST00000373233;ENST00000309279;ENST00000373222	T;T;T	0.74209	-0.82;-0.82;0.44	4.59	4.59	0.56863	Chromo domain (1);Chromo domain-like (1);Chromo domain/shadow (1);	0.097937	0.45126	D	0.000394	D	0.84853	0.5564	M	0.74881	2.28	0.58432	D	0.999999	D;D	0.89917	1.0;0.973	D;D	0.87578	0.998;0.932	D	0.85445	0.1157	10	0.45353	T	0.12	-11.6552	14.4221	0.67190	1.0:0.0:0.0:0.0	.	329;294	Q8TD26-2;Q8TD26	.;CHD6_HUMAN	T	294;294;329	ENSP00000362330:I294T;ENSP00000308684:I294T;ENSP00000362319:I329T	ENSP00000308684:I294T	I	-	2	0	CHD6	39561383	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.667000	0.91153	2.052000	0.61016	0.402000	0.26972	ATT		0.378	CHD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079270.1			8	11	0	0	0	1	0	8	11					G	40127969	A	G	40127969	3	3	365	1	0	0	0	0	1	0	0	0	3329	101	4	4	7394	4	CHD6	20	40127969	Missense_Mutation	SNP	A	TCGA-TK-A8OK-01A-22D-A364-08	6798072	40127969	22897551	45	18238											
ATP5J	522	broad.mit.edu	37	chr21	27101953	27101953	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttcacttactgtcgcttagaTttgtattctctaatcttgtc	7	20	5	9	1	3	1	1	0	2	1	6	1	3	1	0	0	1	2	0	0	4	8			TCGA-TK-A8OK-01A-22D-A364-08	TCGA-TK-A8OK-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a5f0491-82d8-49de-8420-fa14d8185bdc	577739c4-abfc-466f-9bce-1bbb1f35040b	g.chr21:27101953T>G	ENST00000400093.3	-	2	844	c.153A>C	c.(151-153)aaA>aaC	p.K51N	ATP5J_ENST00000284971.3_Missense_Mutation_p.K51N|ATP5J_ENST00000400094.1_Missense_Mutation_p.K51N|ATP5J_ENST00000400099.1_Missense_Mutation_p.K51N|ATP5J_ENST00000457143.2_Missense_Mutation_p.K59N|ATP5J_ENST00000400090.3_Missense_Mutation_p.K51N|ATP5J_ENST00000400087.3_Missense_Mutation_p.K51N	NM_001003701.1|NM_001003703.1|NM_001685.4	NP_001003701.1|NP_001003703.1|NP_001676.2	P18859	ATP5J_HUMAN	ATP synthase, H+ transporting, mitochondrial Fo complex, subunit F6	51					ATP catabolic process (GO:0006200)|cellular metabolic process (GO:0044237)|mitochondrial ATP synthesis coupled proton transport (GO:0042776)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)|substantia nigra development (GO:0021762)	mitochondrial inner membrane (GO:0005743)|mitochondrial proton-transporting ATP synthase complex (GO:0005753)|mitochondrial proton-transporting ATP synthase complex, coupling factor F(o) (GO:0000276)|mitochondrion (GO:0005739)	hydrogen ion transmembrane transporter activity (GO:0015078)|transmembrane transporter activity (GO:0022857)|transporter activity (GO:0005215)			cervix(1)|endometrium(1)|lung(1)|pancreas(1)	4						GTCGCTTAGATTTGTATTCTC	0.328																																					Colon(101;404 1513 9184 32221 46005)	ENST00000400093.3																			0				cervix(1)|endometrium(1)|lung(1)|pancreas(1)	4						c.(151-153)aaA>aaC		ATP synthase, H+ transporting, mitochondrial Fo complex, subunit F6							44	41	42					21																	27101953		2203	4300	6503	SO:0001583	missense	522				ATP catabolic process|respiratory electron transport chain		hydrogen ion transmembrane transporter activity	g.chr21:27101953T>G	M37104	CCDS13574.1, CCDS46637.1	21q21.1	2012-10-12	2010-06-11		ENSG00000154723	ENSG00000154723		"Mitochondrial respiratory chain complex / Complex V", "ATPases / F-type"	847	protein-coding gene	gene with protein product	"coupling factor 6"	603152	"ATP synthase, H+ transporting, mitochondrial F0 complex, subunit F6"	ATP5A, ATP5, ATPM		1830479, 1825642	Standard	NM_001685		Approved	CF6	uc002ylt.3	P18859	OTTHUMG00000078442	ENST00000400093.3:c.153A>C	21.37:g.27101953T>G	ENSP00000382965:p.Lys51Asn					ATP5J_ENST00000400090.3_Missense_Mutation_p.K51N|ATP5J_ENST00000400087.3_Missense_Mutation_p.K51N|ATP5J_ENST00000457143.2_Missense_Mutation_p.K59N|ATP5J_ENST00000400094.1_Missense_Mutation_p.K51N|ATP5J_ENST00000400099.1_Missense_Mutation_p.K51N|ATP5J_ENST00000284971.3_Missense_Mutation_p.K51N	p.K51N	NM_001003701.1|NM_001003703.1|NM_001685.4	NP_001003701.1|NP_001003703.1|NP_001676.2	P18859	ATP5J_HUMAN			2	844	-			51					J3KQ83	Missense_Mutation	SNP	ENST00000400093.3	37	c.153A>C	CCDS13574.1	.	.	.	.	.	.	.	.	.	.	T	15.99	2.994113	0.54041	.	.	ENSG00000154723	ENST00000400099;ENST00000400094;ENST00000284971;ENST00000457143;ENST00000400090;ENST00000400087;ENST00000400093	.	.	.	4.98	3.81	0.43845	.	0.396133	0.31370	N	0.007762	T	0.30070	0.0753	L	0.31420	0.93	0.31465	N	0.669137	B;B	0.09022	0.002;0.002	B;B	0.12156	0.007;0.007	T	0.22521	-1.0214	9	0.19147	T	0.46	-0.9723	5.9436	0.19207	0.0:0.0865:0.268:0.6455	.	51;51	Q6IB54;P18859	.;ATP5J_HUMAN	N	51;51;51;59;51;51;51	.	ENSP00000284971:K51N	K	-	3	2	ATP5J	26023824	0.975000	0.34042	0.752000	0.31206	0.976000	0.68499	0.824000	0.27379	1.015000	0.39444	0.533000	0.62120	AAA		0.328	ATP5J-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171357.1	NM_001685		11	29	0	0	0	1	0	11	29					G	27101953	T	G	27101953	3	3	365	1	0	0	0	0	1	0	0	0	1158	1490	52	5	185	5	ATP5J	21	27101953	Missense_Mutation	SNP	T	TCGA-TK-A8OK-01A-22D-A364-08		27101953	21027942	46	18239											
GNAZ	2781	broad.mit.edu	37	chr22	23438412	23438412	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cactgtcgaggacatcctgcGctcccgggacatgaccacgg	8	6	12	15	4	0	1	0	1	0	0	3	4	2	3	3	3	1	1	3	3	0	0	rs369848697		TCGA-TK-A8OK-01A-22D-A364-08	TCGA-TK-A8OK-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a5f0491-82d8-49de-8420-fa14d8185bdc	577739c4-abfc-466f-9bce-1bbb1f35040b	g.chr22:23438412G>A	ENST00000248996.4	+	2	1196	c.530G>A	c.(529-531)cGc>cAc	p.R177H	RTDR1_ENST00000216036.4_Intron	NM_002073.2	NP_002064.1	P19086	GNAZ_HUMAN	guanine nucleotide binding protein (G protein), alpha z polypeptide	177					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)	G-protein beta/gamma-subunit complex binding (GO:0031683)|G-protein coupled serotonin receptor binding (GO:0031821)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|receptor signaling protein activity (GO:0005057)|signal transducer activity (GO:0004871)	p.R177P(1)		endometrium(3)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(5)|urinary_tract(1)	19	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)			READ - Rectum adenocarcinoma(21;0.166)		GACATCCTGCGCTCCCGGGAC	0.597																																						ENST00000248996.4																			1	Substitution - Missense(1)	p.R177P(1)	lung(1)	endometrium(3)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(5)|urinary_tract(1)	19						c.(529-531)cGc>cAc		guanine nucleotide binding protein (G protein), alpha z polypeptide		G	HIS/ARG,	1,4405	2.1+/-5.4	0,1,2202	113	97	103		530,	3.7	1	22		103	0,8600		0,0,4300	no	missense,intron	GNAZ,RTDR1	NM_002073.2,NM_014433.2	29,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,	177/356,	23438412	1,13005	2203	4300	6503	SO:0001583	missense	2781					endoplasmic reticulum|heterotrimeric G-protein complex|nuclear envelope	G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|metabotropic serotonin receptor binding|receptor signaling protein activity	g.chr22:23438412G>A		CCDS13804.1	22q11.1-q11.2	2008-06-10			ENSG00000128266	ENSG00000128266			4395	protein-coding gene	gene with protein product		139160				2115889	Standard	NM_002073		Approved		uc002zwu.1	P19086	OTTHUMG00000150611	ENST00000248996.4:c.530G>A	22.37:g.23438412G>A	ENSP00000248996:p.Arg177His					RTDR1_ENST00000216036.4_Intron	p.R177H	NM_002073.2	NP_002064.1	P19086	GNAZ_HUMAN		READ - Rectum adenocarcinoma(21;0.166)	2	1196	+	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)		177					B2R6C1|Q4QRJ6	Missense_Mutation	SNP	ENST00000248996.4	37	c.530G>A	CCDS13804.1	.	.	.	.	.	.	.	.	.	.	G	25.9	4.681459	0.88542	2.27E-4	0.0	ENSG00000128266	ENST00000248996;ENST00000456059	D	0.88975	-2.45	4.7	3.68	0.42216	G protein alpha subunit, helical insertion (1);	0.000000	0.85682	D	0.000000	D	0.87200	0.6118	M	0.72118	2.19	0.80722	D	1	B	0.17667	0.023	B	0.04013	0.001	D	0.84701	0.0728	10	0.59425	D	0.04	.	12.0629	0.53572	0.0842:0.0:0.9158:0.0	.	177	P19086	GNAZ_HUMAN	H	177;125	ENSP00000248996:R177H	ENSP00000248996:R177H	R	+	2	0	GNAZ	21768412	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	9.597000	0.98273	1.132000	0.42129	0.655000	0.94253	CGC		0.597	GNAZ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319073.1	NM_002073		17	45	0	0	0	1	0	17	45					A	23438412	G	A	23438412	3	1	365	1	0	0	0	0	1	0	0	0	6514	1087	38	1	532	1	GNAZ	22	23438412	Missense_Mutation	SNP	G	TCGA-TK-A8OK-01A-22D-A364-08		23438412	27866154	47	18240											
XBP1	7494	broad.mit.edu	37	chr22	29195090	29195090	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgttccagctcactcattcgAgccttctttcgatctctggc	5	15	7	14	2	4	0	2	0	2	0	8	2	5	0	2	1	2	2	2	1	0	4			TCGA-TK-A8OK-01A-22D-A364-08	TCGA-TK-A8OK-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a5f0491-82d8-49de-8420-fa14d8185bdc	577739c4-abfc-466f-9bce-1bbb1f35040b	g.chr22:29195090A>C	ENST00000216037.6	-	2	351	c.279T>G	c.(277-279)gcT>gcG	p.A93A	CTA-292E10.6_ENST00000458080.1_RNA|XBP1_ENST00000405219.3_Silent_p.A43A|XBP1_ENST00000403532.3_Silent_p.A93A|CTA-292E10.6_ENST00000451486.1_RNA|XBP1_ENST00000344347.5_Silent_p.A93A|CTA-292E10.6_ENST00000418292.1_RNA|CTA-292E10.6_ENST00000585003.1_RNA	NM_001079539.1|NM_005080.3	NP_001073007.1|NP_005071.2	P17861	XBP1_HUMAN	X-box binding protein 1	93	Basic motif. {ECO:0000255|PROSITE- ProRule:PRU00978}.|bZIP. {ECO:0000255|PROSITE- ProRule:PRU00978}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|cellular response to antibiotic (GO:0071236)|endoplasmic reticulum unfolded protein response (GO:0030968)|epithelial cell maturation involved in salivary gland development (GO:0060691)|exocrine pancreas development (GO:0031017)|glucose homeostasis (GO:0042593)|immune response (GO:0006955)|positive regulation of endoplasmic reticulum unfolded protein response (GO:1900103)|positive regulation of proteasomal protein catabolic process (GO:1901800)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to drug (GO:0042493)|response to electrical stimulus (GO:0051602)|serotonin secretion, neurotransmission (GO:0060096)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(1)|large_intestine(1)|lung(1)	5						CACTCATTCGAGCCTTCTTTC	0.403																																						ENST00000216037.6																			0				breast(2)|endometrium(1)|large_intestine(1)|lung(1)	5						c.(277-279)gcT>gcG		X-box binding protein 1							120	107	111					22																	29195090		2203	4300	6503	SO:0001819	synonymous_variant	7494				immune response	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr22:29195090A>C	M31627	CCDS13847.1	22q12.1	2013-01-10			ENSG00000100219	ENSG00000100219		"basic leucine zipper proteins"	12801	protein-coding gene	gene with protein product		194355		XBP2		1718857, 2196176	Standard	NM_001079539		Approved		uc003aec.3	P17861	OTTHUMG00000151094	ENST00000216037.6:c.279T>G	22.37:g.29195090A>C						XBP1_ENST00000403532.3_Silent_p.A93A|XBP1_ENST00000405219.3_Silent_p.A43A|XBP1_ENST00000344347.5_Silent_p.A93A	p.A93A	NM_001079539.1|NM_005080.3	NP_001073007.1|NP_005071.2	P17861	XBP1_HUMAN			2	351	-			93					Q8WYK6|Q969P1|Q96BD7	Silent	SNP	ENST00000216037.6	37	c.279T>G	CCDS13847.1																																																																																				0.403	XBP1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000321274.1	NM_005080		15	49	0	0	0	1	0	15	49					C	29195090	A	C	29195090	2	2	365	1	0	0	0	0	0	0	0	1	17419	291	11	5		5	XBP1	22	29195090	Silent	SNP	A	TCGA-TK-A8OK-01A-22D-A364-08	5756678	29195090	22109476	48	18241											
SYT11	23208	broad.mit.edu	37	chr1	155837993	155837993	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcctgggagggaaggtggacGtaggaacctgttggtggacg	8	8	19	6	2	0	0	0	0	0	0	1	5	1	5	2	7	1	2	2	7	3	2	rs528248189		TCGA-TP-A8TT-01A-12D-A41K-08	TCGA-TP-A8TT-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8c79fa3-a242-4536-90de-33daeb65c445	34b3bfff-3049-4177-99a4-9ac6332a5ce9	g.chr1:155837993G>A	ENST00000368324.4	+	2	525	c.272G>A	c.(271-273)cGt>cAt	p.R91H	SYT11_ENST00000539162.1_Intron	NM_152280.4	NP_689493.3	Q9BT88	SYT11_HUMAN	synaptotagmin XI	91					negative regulation of neurotransmitter secretion (GO:0046929)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|synaptic vesicle (GO:0008021)	metal ion binding (GO:0046872)|transporter activity (GO:0005215)			breast(2)|central_nervous_system(1)|endometrium(1)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;0.000162)			GAAGGTGGACGTAGGAACCTG	0.522													G|||	1	0.000199681	0	0	5008	,	,		19641	0		0	False		,,,				2504	0.001					ENST00000368324.4																			0				breast(2)|central_nervous_system(1)|endometrium(1)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						c.(271-273)cGt>cAt		synaptotagmin XI							126	116	120					1																	155837993		2203	4300	6503	SO:0001583	missense	23208					cell junction|synaptic vesicle membrane	protein binding|transporter activity	g.chr1:155837993G>A	D38522	CCDS1122.1	1q22	2013-01-21			ENSG00000132718	ENSG00000132718		"Synaptotagmins"	19239	protein-coding gene	gene with protein product		608741				11543631	Standard	NM_152280		Approved	KIAA0080, MGC10881, MGC17226, DKFZp781D015	uc001fmg.3	Q9BT88	OTTHUMG00000014105	ENST00000368324.4:c.272G>A	1.37:g.155837993G>A	ENSP00000357307:p.Arg91His					SYT11_ENST00000539162.1_Intron	p.R91H	NM_152280.4	NP_689493.3	Q9BT88	SYT11_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;0.000162)		2	525	+	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		91					Q14998|Q5W0D4|Q68CT5|Q8IXU3|Q96SU2	Missense_Mutation	SNP	ENST00000368324.4	37	c.272G>A	CCDS1122.1	.	.	.	.	.	.	.	.	.	.	G	14.38	2.516765	0.44763	.	.	ENSG00000132718	ENST00000368324	T	0.51071	0.72	5.76	3.9	0.45041	.	0.113741	0.56097	N	0.000028	T	0.21186	0.0510	L	0.38175	1.15	0.80722	D	1	B	0.11235	0.004	B	0.04013	0.001	T	0.07009	-1.0795	10	0.54805	T	0.06	.	10.6779	0.45797	0.1497:0.0:0.8503:0.0	.	91	Q9BT88	SYT11_HUMAN	H	91	ENSP00000357307:R91H	ENSP00000357307:R91H	R	+	2	0	SYT11	154104617	0.002000	0.14202	0.917000	0.36280	0.991000	0.79684	0.371000	0.20450	0.788000	0.33755	0.655000	0.94253	CGT		0.522	SYT11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039597.1	NM_152280		8	69	0	0	0	1	0	8	69					A	155837993	G	A	155837993	3	1	366	1	0	0	0	0	1	0	0	0	15464	1145	40	1	278	1	SYT11	1	155837993	Missense_Mutation	SNP	G	TCGA-TP-A8TT-01A-12D-A41K-08		155837993	93412628	1	18242											
ZNF804A	91752	broad.mit.edu	37	chr2	185803618	185803618	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaccagccaacttttgttgcTcctcctcagatgccaatcat	10	12	5	14	0	2	1	2	0	0	1	4	1	4	1	5	0	5	2	5	0	3	3			TCGA-TP-A8TT-01A-12D-A41K-08	TCGA-TP-A8TT-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8c79fa3-a242-4536-90de-33daeb65c445	34b3bfff-3049-4177-99a4-9ac6332a5ce9	g.chr2:185803618T>G	ENST00000302277.6	+	4	4089	c.3495T>G	c.(3493-3495)gcT>gcG	p.A1165A		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	1165							metal ion binding (GO:0046872)			NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						CTTTTGTTGCTCCTCCTCAGA	0.512																																						ENST00000302277.6																			0				NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						c.(3493-3495)gcT>gcG		zinc finger protein 804A							232	206	215					2																	185803618		2203	4300	6503	SO:0001819	synonymous_variant	91752					intracellular	zinc ion binding	g.chr2:185803618T>G	AF052145	CCDS2291.1	2q32.1	2012-10-05	2006-10-27	2006-10-27	ENSG00000170396	ENSG00000170396			21711	protein-coding gene	gene with protein product		612282		C2orf10		12970790	Standard	NM_194250		Approved		uc002uph.3	Q7Z570	OTTHUMG00000132625	ENST00000302277.6:c.3495T>G	2.37:g.185803618T>G							p.A1165A	NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN			4	4089	+			1165					A7E253|Q6ZN26	Silent	SNP	ENST00000302277.6	37	c.3495T>G	CCDS2291.1																																																																																				0.512	ZNF804A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255871.1	NM_194250		32	87	0	0	0	1	0	32	87					G	185803618	T	G	185803618	2	3	366	1	0	0	0	0	0	0	0	1	18167	1538	54	5		5	ZNF804A	2	185803618	Silent	SNP	T	TCGA-TP-A8TT-01A-12D-A41K-08		185803618	57395755	2	18243											
SLC39A10	57181	broad.mit.edu	37	chr2	196581641	196581641	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcccctgtcattctggatcCgatctgaaagaaacaggaat	12	9	10	10	1	3	2	1	1	2	1	4	5	4	4	3	3	1	0	3	3	3	1	rs570834233		TCGA-TP-A8TT-01A-12D-A41K-08	TCGA-TP-A8TT-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8c79fa3-a242-4536-90de-33daeb65c445	34b3bfff-3049-4177-99a4-9ac6332a5ce9	g.chr2:196581641C>T	ENST00000409086.3	+	7	2252	c.1977C>T	c.(1975-1977)tcC>tcT	p.S659S	SLC39A10_ENST00000541054.1_Silent_p.S209S|SLC39A10_ENST00000359634.5_Silent_p.S659S	NM_001127257.1	NP_001120729.1	Q9ULF5	S39AA_HUMAN	solute carrier family 39 (zinc transporter), member 10	659					transmembrane transport (GO:0055085)|zinc ion transport (GO:0006829)	integral component of membrane (GO:0016021)	metal ion transmembrane transporter activity (GO:0046873)			breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(16)|pancreas(1)|prostate(1)|skin(2)	34			OV - Ovarian serous cystadenocarcinoma(117;0.221)			ATTCTGGATCCGATCTGAAAG	0.488													C|||	1	0.000199681	0	0	5008	,	,		19196	0		0	False		,,,				2504	0.001					ENST00000409086.3																			0				breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(16)|pancreas(1)|prostate(1)|skin(2)	34						c.(1975-1977)tcC>tcT		solute carrier family 39 (zinc transporter), member 10							135	126	129					2																	196581641		2203	4300	6503	SO:0001819	synonymous_variant	57181				zinc ion transport	integral to membrane	metal ion transmembrane transporter activity	g.chr2:196581641C>T		CCDS33353.1	2q33.1	2013-05-22			ENSG00000196950	ENSG00000196950		"Solute carriers"	20861	protein-coding gene	gene with protein product		608733	"solute carrier family 39 (metal ion transporter), member 10"			12659941	Standard	NM_020342		Approved	KIAA1265, FLJ90515, DKFZp564L2123	uc002utg.4	Q9ULF5	OTTHUMG00000154380	ENST00000409086.3:c.1977C>T	2.37:g.196581641C>T						SLC39A10_ENST00000359634.5_Silent_p.S659S|SLC39A10_ENST00000541054.1_Silent_p.S209S	p.S659S	NM_001127257.1	NP_001120729.1	Q9ULF5	S39AA_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.221)		7	2252	+			659					A8K5C6|B4DGU0|Q3MJA4|Q68CR5|Q6DKH6|Q9Y3Z1	Silent	SNP	ENST00000409086.3	37	c.1977C>T	CCDS33353.1																																																																																				0.488	SLC39A10-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335186.1	XM_047707		17	68	0	0	0	1	0	17	68					T	196581641	C	T	196581641	2	4	366	1	0	0	0	0	0	0	0	1	14613	639	23	2		2	SLC39A10	2	196581641	Silent	SNP	C	TCGA-TP-A8TT-01A-12D-A41K-08	10778023	196581641	46617732	3	18244											
PCDH10	57575	broad.mit.edu	37	chr4	134084436	134084436	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttacaaaccaccatatttGagtaagtattacacaaaggg	16	10	6	9	0	0	1	0	1	0	0	0	1	0	1	3	1	3	2	3	1	7	6			TCGA-TP-A8TT-01A-12D-A41K-08	TCGA-TP-A8TT-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8c79fa3-a242-4536-90de-33daeb65c445	34b3bfff-3049-4177-99a4-9ac6332a5ce9	g.chr4:134084436G>T	ENST00000264360.5	+	4	3928	c.3102G>T	c.(3100-3102)ttG>ttT	p.L1034F		NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	1034					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		CACCATATTTGAGTAAGTATT	0.433																																						ENST00000264360.4																			0				NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136						c.e4+1		protocadherin 10							79	88	85					4																	134084436		2203	4298	6501	SO:0001630	splice_region_variant	57575				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:134084436G>T	AB037821	CCDS34063.1, CCDS75192.1	4q28.3	2010-01-26				ENSG00000138650		"Cadherins / Protocadherins : Non-clustered"	13404	protein-coding gene	gene with protein product		608286				10835267	Standard	NM_020815		Approved	OL-PCDH, KIAA1400	uc003iha.3	Q9P2E7		ENST00000264360.5:c.3103+1G>T	4.37:g.134084436G>T							p.L1034_splice	NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN		LUSC - Lung squamous cell carcinoma(193;0.227)	4	3928	+			1034					Q4W5F6|Q96SF0	Splice_Site	SNP	ENST00000264360.5	37	c.3103_splice	CCDS34063.1	.	.	.	.	.	.	.	.	.	.	G	19.26	3.792778	0.70452	.	.	ENSG00000138650	ENST00000264360;ENST00000394248	T	0.59224	0.28	5.77	5.77	0.91146	.	0.000000	0.32518	N	0.005996	T	0.66896	0.2836	L	0.34521	1.04	0.53688	D	0.999976	D	0.71674	0.998	D	0.78314	0.991	T	0.68949	-0.5274	10	0.87932	D	0	.	15.1149	0.72394	0.0:0.1412:0.8588:0.0	.	1034	Q9P2E7	PCD10_HUMAN	F	1034	ENSP00000264360:L1034F	ENSP00000264360:L1034F	L	+	3	2	PCDH10	134303886	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	4.099000	0.57755	2.717000	0.92951	0.650000	0.86243	TTG		0.433	PCDH10-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000364457.2	NM_032961	Missense_Mutation	20	37	1	0	5.35267e-07	1	6.13326e-07	20	37					T	134084436	G	T	134084436	5	4	366	1	0	0	0	0	0	0	1	0	11507	1304	45	5	3176	5	PCDH10	4	134084436	Splice_Site	SNP	G	TCGA-TP-A8TT-01A-12D-A41K-08		134084436	57069840	4	18245											
TMEM106B	54664	broad.mit.edu	37	chr7	12270040	12270040	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttacacagtacctaccgttaTagcagaggaaatgagttata	15	11	8	7	1	0	2	0	1	0	1	0	3	0	3	2	1	4	4	2	1	8	7			TCGA-TP-A8TT-01A-12D-A41K-08	TCGA-TP-A8TT-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8c79fa3-a242-4536-90de-33daeb65c445	34b3bfff-3049-4177-99a4-9ac6332a5ce9	g.chr7:12270040T>C	ENST00000396667.3	+	7	930	c.608T>C	c.(607-609)aTa>aCa	p.I203T	TMEM106B_ENST00000396668.3_Missense_Mutation_p.I203T	NM_018374.3	NP_060844.2	Q9NUM4	T106B_HUMAN	transmembrane protein 106B	203					cell death (GO:0008219)|dendrite morphogenesis (GO:0048813)|lysosome localization (GO:0032418)|transport (GO:0006810)	endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)				NS(1)|endometrium(8)|large_intestine(2)|lung(7)	18				UCEC - Uterine corpus endometrioid carcinoma (126;0.185)		CCTACCGTTATAGCAGAGGAA	0.274																																						ENST00000396667.2																			0				NS(1)|endometrium(8)|large_intestine(2)|lung(7)	18						c.(607-609)aTa>aCa		transmembrane protein 106B							118	124	122					7																	12270040		2202	4299	6501	SO:0001583	missense	54664					integral to membrane		g.chr7:12270040T>C	BC033901	CCDS5358.1	7p21.3	2012-06-06			ENSG00000106460	ENSG00000106460			22407	protein-coding gene	gene with protein product		613413				20154673, 22511793	Standard	NM_018374		Approved	MGC33727, FLJ11273	uc003ssh.3	Q9NUM4	OTTHUMG00000125537	ENST00000396667.3:c.608T>C	7.37:g.12270040T>C	ENSP00000379901:p.Ile203Thr					TMEM106B_ENST00000396668.3_Missense_Mutation_p.I203T	p.I203T	NM_018374.3	NP_060844.2	Q9NUM4	T106B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.185)	7	930	+			203					A4D108|Q53FL9|Q8N4L0	Missense_Mutation	SNP	ENST00000396667.3	37	c.608T>C	CCDS5358.1	.	.	.	.	.	.	.	.	.	.	T	23.5	4.418261	0.83449	.	.	ENSG00000106460	ENST00000396668;ENST00000396667	T;T	0.27890	1.64;1.64	5.87	5.87	0.94306	.	0.125554	0.64402	D	0.000002	T	0.49592	0.1566	M	0.83483	2.645	0.54753	D	0.999982	P	0.37914	0.611	P	0.46049	0.502	T	0.54629	-0.8265	10	0.72032	D	0.01	.	15.9373	0.79720	0.0:0.0:0.0:1.0	.	203	Q9NUM4	T106B_HUMAN	T	203	ENSP00000379902:I203T;ENSP00000379901:I203T	ENSP00000379901:I203T	I	+	2	0	TMEM106B	12236565	1.000000	0.71417	0.987000	0.45799	0.996000	0.88848	7.318000	0.79029	2.230000	0.72887	0.533000	0.62120	ATA		0.274	TMEM106B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246870.3	NM_018374		16	58	0	0	0	1	0	16	58					C	12270040	T	C	12270040	3	2	366	1	0	0	0	0	1	0	0	0	16018	1406	49	4	626	4	TMEM106B	7	12270040	Missense_Mutation	SNP	T	TCGA-TP-A8TT-01A-12D-A41K-08		12270040	146868623	5	18246											
ZNF398	57541	broad.mit.edu	37	chr7	148873589	148873589	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttcaacatcagatattctgTcttggattaaacaagaagaa	16	13	6	6	0	4	3	2	0	2	3	4	4	4	4	0	1	2	0	0	1	7	5			TCGA-TP-A8TT-01A-12D-A41K-08	TCGA-TP-A8TT-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8c79fa3-a242-4536-90de-33daeb65c445	34b3bfff-3049-4177-99a4-9ac6332a5ce9	g.chr7:148873589T>C	ENST00000475153.1	+	5	958	c.691T>C	c.(691-693)Tct>Cct	p.S231P	ZNF398_ENST00000335901.4_Missense_Mutation_p.S60P|ZNF398_ENST00000540950.1_Missense_Mutation_p.S236P|ZNF398_ENST00000483892.1_Missense_Mutation_p.S60P|ZNF398_ENST00000491174.1_Missense_Mutation_p.S60P|ZNF398_ENST00000426851.2_Missense_Mutation_p.S60P|ZNF398_ENST00000420008.2_Missense_Mutation_p.S60P			Q8TD17	ZN398_HUMAN	zinc finger protein 398	231					positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(14)|ovary(1)	25	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00143)			AGATATTCTGTCTTGGATTAA	0.403																																						ENST00000420008.2																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(14)|ovary(1)	25						c.(178-180)Tct>Cct		zinc finger protein 398							95	107	103					7																	148873589		2203	4300	6503	SO:0001583	missense	0				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:148873589T>C	AB037760	CCDS5894.1, CCDS47739.1	7q35	2013-01-08			ENSG00000197024	ENSG00000197024		"Zinc fingers, C2H2-type", "-"	18373	protein-coding gene	gene with protein product						11779858	Standard	NM_170686		Approved	ZER6, KIAA1339, P51, P71	uc003wfl.3	Q8TD17	OTTHUMG00000158970	ENST00000475153.1:c.691T>C	7.37:g.148873589T>C	ENSP00000420418:p.Ser231Pro					ZNF398_ENST00000491174.1_Missense_Mutation_p.S60P|ZNF398_ENST00000540950.1_Missense_Mutation_p.S236P|ZNF398_ENST00000475153.1_Missense_Mutation_p.S231P|ZNF398_ENST00000335901.4_Missense_Mutation_p.S60P|ZNF398_ENST00000483892.1_Missense_Mutation_p.S60P|ZNF398_ENST00000426851.2_Missense_Mutation_p.S60P	p.S60P	NM_170686.2	NP_733787.1	Q8TD17	ZN398_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00143)		5	966	+	Melanoma(164;0.15)		231					A8K384|B4E377|Q8TD18|Q9P2K7|Q9UDV8	Missense_Mutation	SNP	ENST00000475153.1	37	c.178T>C	CCDS5894.1	.	.	.	.	.	.	.	.	.	.	T	22.8	4.343186	0.82022	.	.	ENSG00000197024	ENST00000426851;ENST00000420008;ENST00000475153;ENST00000483892;ENST00000491174;ENST00000540950;ENST00000335901	T;T;T;T;T;T;T	0.07567	3.18;3.18;3.24;3.18;3.18;3.24;3.18	5.31	5.31	0.75309	.	0.000000	0.47093	D	0.000241	T	0.24509	0.0594	M	0.71581	2.175	0.35506	D	0.800167	D;D	0.67145	0.995;0.996	D;P	0.72982	0.979;0.806	T	0.19386	-1.0307	10	0.29301	T	0.29	-15.5431	11.5786	0.50879	0.0:0.0:0.0:1.0	.	236;231	B4DXA9;Q8TD17	.;ZN398_HUMAN	P	60;60;231;60;60;236;60	ENSP00000389972:S60P;ENSP00000416751:S60P;ENSP00000420418:S231P;ENSP00000418564:S60P;ENSP00000419391:S60P;ENSP00000439340:S236P;ENSP00000338984:S60P	ENSP00000338984:S60P	S	+	1	0	ZNF398	148504522	0.819000	0.29175	1.000000	0.80357	0.981000	0.71138	3.139000	0.50577	2.236000	0.73375	0.533000	0.62120	TCT		0.403	ZNF398-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352722.2			3	38	0	0	0	1	0	3	38					C	148873589	T	C	148873589	3	2	366	1	0	0	0	0	1	0	0	0	17882	1667	58	4	709	4	ZNF398	7	148873589	Missense_Mutation	SNP	T	TCGA-TP-A8TT-01A-12D-A41K-08	136603549	148873589	10265074	6	18247											
ZCCHC7	84186	broad.mit.edu	37	chr9	37304308	37304308	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caaaaaactgccccttaccaCgagtacgtgaaatatgcttt	14	10	6	11	2	0	1	0	1	0	0	0	2	0	1	3	0	5	2	3	0	7	4	rs377509996		TCGA-TP-A8TT-01A-12D-A41K-08	TCGA-TP-A8TT-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8c79fa3-a242-4536-90de-33daeb65c445	34b3bfff-3049-4177-99a4-9ac6332a5ce9	g.chr9:37304308C>T	ENST00000336755.5	+	4	884	c.778C>T	c.(778-780)Cga>Tga	p.R260*	ZCCHC7_ENST00000461038.1_3'UTR|ZCCHC7_ENST00000534928.1_5'UTR	NM_032226.2	NP_115602.2	Q8N3Z6	ZCHC7_HUMAN	zinc finger, CCHC domain containing 7	260						cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	30				GBM - Glioblastoma multiforme(29;0.0137)		CCCCTTACCACGAGTACGTGA	0.438																																						ENST00000336755.5																			0				central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	30						c.(778-780)Cga>Tga		zinc finger, CCHC domain containing 7		C	stop/ARG	1,4405	2.1+/-5.4	0,1,2202	99	94	95		778	5.4	1	9		95	0,8600		0,0,4300	no	stop-gained	ZCCHC7	NM_032226.2		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		260/544	37304308	1,13005	2203	4300	6503	SO:0001587	stop_gained	84186						nucleic acid binding|zinc ion binding	g.chr9:37304308C>T	AK026264	CCDS6608.2	9p13.1	2008-05-02			ENSG00000147905	ENSG00000147905		"Zinc fingers, CCHC domain containing"	26209	protein-coding gene	gene with protein product							Standard	NM_032226		Approved	FLJ22611, AIR1	uc003zzq.3	Q8N3Z6	OTTHUMG00000019915	ENST00000336755.5:c.778C>T	9.37:g.37304308C>T	ENSP00000337839:p.Arg260*					ZCCHC7_ENST00000461038.1_3'UTR|ZCCHC7_ENST00000534928.1_5'UTR	p.R260*	NM_032226.2	NP_115602.2	Q8N3Z6	ZCHC7_HUMAN		GBM - Glioblastoma multiforme(29;0.0137)	4	884	+			260					B2RCI4|D3DRQ0|Q5T0Q8|Q5T0Q9|Q5T0R0|Q8N2M1|Q8N4J2|Q8TBK8|Q9H648|Q9P0F0	Nonsense_Mutation	SNP	ENST00000336755.5	37	c.778C>T	CCDS6608.2	.	.	.	.	.	.	.	.	.	.	C	20.7	4.033203	0.75504	2.27E-4	0.0	ENSG00000147905	ENST00000336755	.	.	.	5.43	5.43	0.79202	.	0.653399	0.14362	N	0.324397	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.32370	T	0.25	-8.8149	11.6721	0.51408	0.2846:0.7154:0.0:0.0	.	.	.	.	X	260	.	ENSP00000337839:R260X	R	+	1	2	ZCCHC7	37294308	1.000000	0.71417	1.000000	0.80357	0.056000	0.15407	2.323000	0.43823	2.552000	0.86080	0.650000	0.86243	CGA		0.438	ZCCHC7-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052453.2	NM_032226		19	73	0	0	0	1	0	19	73					T	37304308	C	T	37304308	4	4	366	1	0	0	0	0	0	1	0	0	17590	528	19	1	788	1	ZCCHC7	9	37304308	Nonsense_Mutation	SNP	C	TCGA-TP-A8TT-01A-12D-A41K-08		37304308	103909123	7	18248											
RNF20	56254	broad.mit.edu	37	chr9	104302620	104302620	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacaggccactgatgatgccTcactattgattgtcaaccga	11	10	9	11	1	2	3	2	3	0	0	2	5	2	3	3	1	2	0	3	1	2	3			TCGA-TP-A8TT-01A-12D-A41K-08	TCGA-TP-A8TT-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8c79fa3-a242-4536-90de-33daeb65c445	34b3bfff-3049-4177-99a4-9ac6332a5ce9	g.chr9:104302620T>A	ENST00000389120.3	+	3	355	c.265T>A	c.(265-267)Tca>Aca	p.S89T		NM_019592.5	NP_062538.5	Q5VTR2	BRE1A_HUMAN	ring finger protein 20, E3 ubiquitin protein ligase	89					histone H2B ubiquitination (GO:0033523)|histone monoubiquitination (GO:0010390)|negative regulation of cell migration (GO:0030336)|positive regulation of histone methylation (GO:0031062)|positive regulation of transcription, DNA-templated (GO:0045893)|protein polyubiquitination (GO:0000209)|regulation of transcription, DNA-templated (GO:0006355)|ubiquitin-dependent protein catabolic process (GO:0006511)	HULC complex (GO:0033503)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	chromatin binding (GO:0003682)|histone binding (GO:0042393)|ligase activity (GO:0016874)|p53 binding (GO:0002039)|transcription coactivator activity (GO:0003713)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|endometrium(3)|kidney(6)|large_intestine(7)|lung(23)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	54		all_hematologic(171;8.99e-06)|Acute lymphoblastic leukemia(62;0.000365)|Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;2.88e-19)|STAD - Stomach adenocarcinoma(157;0.00311)		TGATGATGCCTCACTATTGAT	0.423																																						ENST00000389120.3																			0				breast(3)|endometrium(3)|kidney(6)|large_intestine(7)|lung(23)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						c.(265-267)Tca>Aca		ring finger protein 20, E3 ubiquitin protein ligase							181	166	171					9																	104302620		2203	4300	6503	SO:0001583	missense	56254				histone H2B ubiquitination|histone monoubiquitination|negative regulation of cell migration|positive regulation of transcription, DNA-dependent|protein polyubiquitination|ubiquitin-dependent protein catabolic process	nucleolus|ubiquitin ligase complex	histone binding|p53 binding|transcription coactivator activity|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr9:104302620T>A	AF265230	CCDS35084.1	9q22	2012-02-23	2012-02-23	2008-12-12	ENSG00000155827	ENSG00000155827		"RING-type (C3HC4) zinc fingers"	10062	protein-coding gene	gene with protein product	"BRE1 E3 ubiquitin ligase homolog (S. cerevisiae)"	607699	"ring finger protein 20"			16337599, 12876294, 18832071, 19037095	Standard	NM_019592		Approved	FLJ20382, FLJ11189, KAIA2779, BRE1A, hBRE1, BRE1	uc004bbn.3	Q5VTR2	OTTHUMG00000020385	ENST00000389120.3:c.265T>A	9.37:g.104302620T>A	ENSP00000373772:p.Ser89Thr						p.S89T	NM_019592.5	NP_062538.5	Q5VTR2	BRE1A_HUMAN		OV - Ovarian serous cystadenocarcinoma(323;2.88e-19)|STAD - Stomach adenocarcinoma(157;0.00311)	3	355	+		all_hematologic(171;8.99e-06)|Acute lymphoblastic leukemia(62;0.000365)|Myeloproliferative disorder(762;0.0255)	89					A7MCT5|Q2TB34|Q69YL5|Q6P527|Q8N3J4|Q96JD3|Q9H9Y7|Q9HA51|Q9NUR4|Q9NWQ3|Q9NX83	Missense_Mutation	SNP	ENST00000389120.3	37	c.265T>A	CCDS35084.1	.	.	.	.	.	.	.	.	.	.	T	9.433	1.086080	0.20390	.	.	ENSG00000155827	ENST00000389120;ENST00000478347;ENST00000488264;ENST00000374819;ENST00000479306;ENST00000466817	T	0.26518	1.73	4.17	4.17	0.49024	.	0.113654	0.64402	D	0.000012	T	0.24928	0.0605	N	0.13299	0.325	0.48087	D	0.999583	P	0.52842	0.956	P	0.62184	0.899	T	0.02588	-1.1137	10	0.02654	T	1	-5.337	13.335	0.60512	0.0:0.0:0.0:1.0	.	89	Q5VTR2	BRE1A_HUMAN	T	89;77;75;89;89;89	ENSP00000373772:S89T	ENSP00000363952:S89T	S	+	1	0	RNF20	103342441	1.000000	0.71417	0.992000	0.48379	0.942000	0.58702	5.218000	0.65257	1.895000	0.54865	0.379000	0.24179	TCA		0.423	RNF20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356402.1	NM_019592		4	184	0	0	0	1	0	4	184					A	104302620	T	A	104302620	3	1	366	1	0	0	0	0	1	0	0	0	13473	1551	54	5	271	5	RNF20	9	104302620	Missense_Mutation	SNP	T	TCGA-TP-A8TT-01A-12D-A41K-08	66998312	104302620	36910811	8	18249											
PHYH	5264	broad.mit.edu	37	chr10	13336427	13336427	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aaagcaagggtggtctctgaCctcggggagagtgcagtatc	10	8	15	8	1	1	2	0	1	1	1	4	3	1	2	1	4	2	3	1	4	3	1			TCGA-TP-A8TT-01A-12D-A41K-08	TCGA-TP-A8TT-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8c79fa3-a242-4536-90de-33daeb65c445	34b3bfff-3049-4177-99a4-9ac6332a5ce9	g.chr10:13336427C>T	ENST00000263038.4	-	4	473		c.e4+1		PHYH_ENST00000396913.2_Splice_Site|PHYH_ENST00000396920.3_Splice_Site	NM_006214.3	NP_006205.1	O14832	PAHX_HUMAN	phytanoyl-CoA 2-hydroxylase						cellular lipid metabolic process (GO:0044255)|fatty acid alpha-oxidation (GO:0001561)|isoprenoid metabolic process (GO:0006720)|methyl-branched fatty acid metabolic process (GO:0097089)|small molecule metabolic process (GO:0044281)	mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	cofactor binding (GO:0048037)|electron carrier activity (GO:0009055)|L-ascorbic acid binding (GO:0031418)|metal ion binding (GO:0046872)|phytanoyl-CoA dioxygenase activity (GO:0048244)			NS(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2)	25		Ovarian(717;0.0448)			Antihemophilic Factor(DB00025)|Vitamin C(DB00126)	TGGTCTCTGACCTCGGGGAGA	0.507																																						ENST00000396920.3																			0				NS(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2)	25						c.e4+1		phytanoyl-CoA 2-hydroxylase	Antihemophilic Factor(DB00025)|Vitamin C(DB00126)						118	97	104					10																	13336427		2203	4300	6503	SO:0001630	splice_region_variant	5264				fatty acid alpha-oxidation|nervous system development	peroxisomal matrix	electron carrier activity|L-ascorbic acid binding|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|phytanoyl-CoA dioxygenase activity|protein binding	g.chr10:13336427C>T		CCDS7097.1, CCDS41489.1	10p13	2010-04-27	2006-01-09		ENSG00000107537	ENSG00000107537	1.14.11.18		8940	protein-coding gene	gene with protein product	"Refsum disease", "phytanoyl-CoA dioxygenase"	602026	"phytanoyl-CoA hydroxylase (Refsum disease)", "phytanoyl-CoA hydroxylase"			9326939	Standard	XM_005252469		Approved	PAHX, RD, PHYH1	uc001imf.3	O14832	OTTHUMG00000017693	ENST00000263038.4:c.414+1G>A	10.37:g.13336427C>T						PHYH_ENST00000396913.2_Splice_Site|PHYH_ENST00000263038.4_Splice_Site				O14832	PAHX_HUMAN			4	762	-		Ovarian(717;0.0448)						A8MTS8|B1ALH5	Splice_Site	SNP	ENST00000263038.4	37		CCDS7097.1	.	.	.	.	.	.	.	.	.	.	.	18.16	3.562846	0.65538	.	.	ENSG00000107537	ENST00000396913;ENST00000263038;ENST00000396920;ENST00000453759;ENST00000479604	.	.	.	4.59	4.59	0.56863	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.5992	0.88021	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PHYH	13376433	1.000000	0.71417	0.991000	0.47740	0.666000	0.39218	7.582000	0.82546	2.395000	0.81488	0.650000	0.86243	.		0.507	PHYH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046845.2		Intron	9	29	0	0	0	1	0	9	29					T	13336427	C	T	13336427	5	4	366	1	0	0	0	0	0	0	1	0	11864	521	18	3	625	3	PHYH	10	13336427	Splice_Site	SNP	C	TCGA-TP-A8TT-01A-12D-A41K-08		13336427	122198320	9	18250											
MRGPRX4	117196	broad.mit.edu	37	chr11	18195549	18195549	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gcacctgaatttggaagtctTatattgtcatgtttatctgg	9	17	9	6	0	3	1	1	1	2	0	3	2	3	2	1	2	0	2	1	2	5	6			TCGA-TP-A8TT-01A-12D-A41K-08	TCGA-TP-A8TT-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8c79fa3-a242-4536-90de-33daeb65c445	34b3bfff-3049-4177-99a4-9ac6332a5ce9	g.chr11:18195549T>C	ENST00000314254.3	+	1	1166	c.746T>C	c.(745-747)tTa>tCa	p.L249S	RP11-113D6.6_ENST00000527671.1_Intron	NM_054032.3	NP_473373.2	Q96LA9	MRGX4_HUMAN	MAS-related GPR, member X4	249						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32						TTGGAAGTCTTATATTGTCAT	0.502																																						ENST00000314254.3																			0				central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32						c.(745-747)tTa>tCa		MAS-related GPR, member X4							145	133	137					11																	18195549		2199	4293	6492	SO:0001583	missense	117196					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr11:18195549T>C	AY042216	CCDS7831.1	11p15.1	2013-10-10			ENSG00000179817	ENSG00000179817		"GPCR / Class A : Orphans"	17617	protein-coding gene	gene with protein product		607230				11551509	Standard	NM_054032		Approved	MRGX4	uc001mnv.1	Q96LA9	OTTHUMG00000166442	ENST00000314254.3:c.746T>C	11.37:g.18195549T>C	ENSP00000314042:p.Leu249Ser					RP11-113D6.6_ENST00000527671.1_Intron	p.L249S	NM_054032.3	NP_473373.2	Q96LA9	MRGX4_HUMAN			1	1166	+			249					Q3KNU3|Q3KNU4|Q502W0|Q8TDD6|Q8TDD7	Missense_Mutation	SNP	ENST00000314254.3	37	c.746T>C	CCDS7831.1	.	.	.	.	.	.	.	.	.	.	T	3.008	-0.204464	0.06180	.	.	ENSG00000179817	ENST00000314254	T	0.72835	-0.69	2.32	2.32	0.28847	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.55893	0.1949	L	0.37507	1.11	0.09310	N	1	B	0.17038	0.02	B	0.15870	0.014	T	0.37267	-0.9713	9	0.16420	T	0.52	.	8.4733	0.32999	0.0:0.0:0.0:1.0	.	249	Q96LA9	MRGX4_HUMAN	S	249	ENSP00000314042:L249S	ENSP00000314042:L249S	L	+	2	0	MRGPRX4	18152125	0.000000	0.05858	0.003000	0.11579	0.005000	0.04900	0.105000	0.15333	1.320000	0.45209	0.352000	0.21897	TTA		0.502	MRGPRX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389788.1	NM_054032		25	50	0	0	0	1	0	25	50					C	18195549	T	C	18195549	3	2	366	1	0	0	0	0	1	0	0	0	9769	1764	61	4	748	4	MRGPRX4	11	18195549	Missense_Mutation	SNP	T	TCGA-TP-A8TT-01A-12D-A41K-08		18195549	116810967	10	18251											
INTS4	92105	broad.mit.edu	37	chr11	77635895	77635895	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tggttgaaacattagtacagCataagagttcatgaagagcc	15	10	10	6	0	1	4	1	2	0	2	1	4	1	4	1	1	4	4	1	1	5	5			TCGA-TP-A8TT-01A-12D-A41K-08	TCGA-TP-A8TT-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8c79fa3-a242-4536-90de-33daeb65c445	34b3bfff-3049-4177-99a4-9ac6332a5ce9	g.chr11:77635895C>A	ENST00000534064.1	-	12	1449	c.1415G>T	c.(1414-1416)tGc>tTc	p.C472F	INTS4_ENST00000525931.1_5'UTR|INTS4_ENST00000529807.1_Missense_Mutation_p.C472F	NM_033547.3	NP_291025.3	Q96HW7	INT4_HUMAN	integrator complex subunit 4	472					snRNA processing (GO:0016180)	integrator complex (GO:0032039)			INTS4/GAB2(2)	NS(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|prostate(5)|upper_aerodigestive_tract(1)	32	all_cancers(14;4.53e-19)|all_epithelial(13;1.73e-21)|Breast(9;2.71e-16)|Ovarian(111;0.152)		Epithelial(5;1.13e-46)|all cancers(3;8.92e-44)|BRCA - Breast invasive adenocarcinoma(5;8.4e-26)|OV - Ovarian serous cystadenocarcinoma(8;1.05e-23)			ATTAGTACAGCATAAGAGTTC	0.383																																						ENST00000534064.1																		INTS4/GAB2(2)	0				NS(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|prostate(5)|upper_aerodigestive_tract(1)	32						c.(1414-1416)tGc>tTc		integrator complex subunit 4							23	24	24					11																	77635895		2195	4285	6480	SO:0001583	missense	92105				snRNA processing	integrator complex	protein binding	g.chr11:77635895C>A	BC015664	CCDS31644.1	11q14.1	2006-04-26			ENSG00000149262	ENSG00000149262			25048	protein-coding gene	gene with protein product		611348				16239144	Standard	NM_033547		Approved	INT4, MGC16733, MST093	uc001oys.3	Q96HW7	OTTHUMG00000166629	ENST00000534064.1:c.1415G>T	11.37:g.77635895C>A	ENSP00000434466:p.Cys472Phe					INTS4_ENST00000529807.1_Missense_Mutation_p.C472F|INTS4_ENST00000525931.1_5'UTR	p.C472F	NM_033547.3	NP_291025.3	Q96HW7	INT4_HUMAN	Epithelial(5;1.13e-46)|all cancers(3;8.92e-44)|BRCA - Breast invasive adenocarcinoma(5;8.4e-26)|OV - Ovarian serous cystadenocarcinoma(8;1.05e-23)		12	1449	-	all_cancers(14;4.53e-19)|all_epithelial(13;1.73e-21)|Breast(9;2.71e-16)|Ovarian(111;0.152)		472					Q2YD62|Q6PJG4|Q7Z4E7|Q96G32|Q96GA1|Q9BRC0	Missense_Mutation	SNP	ENST00000534064.1	37	c.1415G>T	CCDS31644.1	.	.	.	.	.	.	.	.	.	.	C	19.67	3.871474	0.72065	.	.	ENSG00000149262	ENST00000534064;ENST00000354849;ENST00000529807	T;T	0.41065	1.01;1.01	4.51	4.51	0.55191	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.53997	0.1831	L	0.29908	0.895	0.80722	D	1	D	0.69078	0.997	D	0.83275	0.996	T	0.58423	-0.7639	10	0.62326	D	0.03	-3.2553	17.7819	0.88526	0.0:1.0:0.0:0.0	.	472	Q96HW7	INT4_HUMAN	F	472;323;472	ENSP00000434466:C472F;ENSP00000433644:C472F	ENSP00000346913:C323F	C	-	2	0	INTS4	77313543	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.171000	0.77595	2.489000	0.83994	0.484000	0.47621	TGC		0.383	INTS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390927.1	NM_033547		3	26	1	0	0.004672	1	0.00494154	3	26					A	77635895	C	A	77635895	3	1	366	1	0	0	0	0	1	0	0	0	7780	710	25	5	1524	5	INTS4	11	77635895	Missense_Mutation	SNP	C	TCGA-TP-A8TT-01A-12D-A41K-08	59440346	77635895	57370621	11	18252											
SOAT2	8435	broad.mit.edu	37	chr12	53512168	53512168	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gcccccagtttctccagctaCctctacttcctcttctgccc	4	13	4	20	0	4	0	0	0	4	0	6	0	5	0	6	0	4	2	6	0	2	5			TCGA-TP-A8TT-01A-12D-A41K-08	TCGA-TP-A8TT-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8c79fa3-a242-4536-90de-33daeb65c445	34b3bfff-3049-4177-99a4-9ac6332a5ce9	g.chr12:53512168C>T	ENST00000301466.3	+	8	873	c.813C>T	c.(811-813)taC>taT	p.Y271Y		NM_003578.3	NP_003569.1	O75908	SOAT2_HUMAN	sterol O-acyltransferase 2	271					cholesterol efflux (GO:0033344)|cholesterol esterification (GO:0034435)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|intestinal cholesterol absorption (GO:0030299)|macrophage derived foam cell differentiation (GO:0010742)|very-low-density lipoprotein particle assembly (GO:0034379)	brush border (GO:0005903)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	cholesterol binding (GO:0015485)|cholesterol O-acyltransferase activity (GO:0034736)|fatty-acyl-CoA binding (GO:0000062)|transferase activity, transferring acyl groups (GO:0016746)			endometrium(5)|kidney(3)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|skin(1)	18					Hesperetin(DB01094)	TCTCCAGCTACCTCTACTTCC	0.572																																						ENST00000301466.3																			0				endometrium(5)|kidney(3)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|skin(1)	18						c.(811-813)taC>taT		sterol O-acyltransferase 2							221	202	208					12																	53512168		2203	4300	6503	SO:0001819	synonymous_variant	8435				cholesterol efflux|cholesterol esterification|cholesterol homeostasis|cholesterol metabolic process|macrophage derived foam cell differentiation|very-low-density lipoprotein particle assembly	brush border|endoplasmic reticulum membrane|integral to membrane|microsome	cholesterol binding|cholesterol O-acyltransferase activity|fatty-acyl-CoA binding	g.chr12:53512168C>T	AF059203	CCDS8847.1	12q13.13	2012-09-20			ENSG00000167780	ENSG00000167780	2.3.1.26		11178	protein-coding gene	gene with protein product		601311				9756920	Standard	NM_003578		Approved	ACAT2	uc001sbv.3	O75908	OTTHUMG00000169774	ENST00000301466.3:c.813C>T	12.37:g.53512168C>T							p.Y271Y	NM_003578.3	NP_003569.1	O75908	SOAT2_HUMAN			8	873	+			271					F5H7W4|I6L9H9|Q4VB99|Q4VBA1|Q96TD4|Q9UNR2	Silent	SNP	ENST00000301466.3	37	c.813C>T	CCDS8847.1																																																																																				0.572	SOAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405817.1			15	51	0	0	0	1	0	15	51					T	53512168	C	T	53512168	2	4	366	1	0	0	0	0	0	0	0	1	14911	518	18	3		3	SOAT2	12	53512168	Silent	SNP	C	TCGA-TP-A8TT-01A-12D-A41K-08		53512168	80339727	12	18253											
GLIPR1	11010	broad.mit.edu	37	chr12	75875623	75875623	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tatttttgcagacttgggacCcagcactagcccaaattgca	11	11	8	11	0	0	1	0	0	0	1	0	2	0	2	2	1	4	3	2	1	3	6	rs201262620		TCGA-TP-A8TT-01A-12D-A41K-08	TCGA-TP-A8TT-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8c79fa3-a242-4536-90de-33daeb65c445	34b3bfff-3049-4177-99a4-9ac6332a5ce9	g.chr12:75875623C>G	ENST00000266659.3	+	2	385	c.184C>G	c.(184-186)Cca>Gca	p.P62A	RP11-585P4.5_ENST00000547326.1_RNA	NM_006851.2	NP_006842.2	P48060	GLIP1_HUMAN	GLI pathogenesis-related 1	62	SCP.				cellular lipid metabolic process (GO:0044255)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)				endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|skin(1)	14						GACTTGGGACCCAGCACTAGC	0.453																																						ENST00000266659.3																			0				endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|skin(1)	14						c.(184-186)Cca>Gca		GLI pathogenesis-related 1							118	117	118					12																	75875623		2203	4300	6503	SO:0001583	missense	11010				cellular lipid metabolic process	extracellular region|integral to membrane		g.chr12:75875623C>G	U16307	CCDS9011.1	12q14.1	2008-08-15	2008-08-15			ENSG00000139278			17001	protein-coding gene	gene with protein product		602692	"GLI pathogenesis-related 1 (glioma)"			7607567, 8973356	Standard	NM_006851		Approved	RTVP1, GliPR	uc001sxs.3	P48060	OTTHUMG00000169757	ENST00000266659.3:c.184C>G	12.37:g.75875623C>G	ENSP00000266659:p.Pro62Ala						p.P62A	NM_006851.2	NP_006842.2	P48060	GLIP1_HUMAN			2	385	+			62					A7YET6|F8VUC2|Q15409|Q969K2	Missense_Mutation	SNP	ENST00000266659.3	37	c.184C>G	CCDS9011.1	.	.	.	.	.	.	.	.	.	.	C	12.67	2.006302	0.35415	.	.	ENSG00000139278	ENST00000266659;ENST00000456650	T;T	0.08370	3.1;3.1	5.92	3.0	0.34707	CAP domain (3);	0.195637	0.46442	D	0.000297	T	0.05456	0.0144	L	0.31420	0.93	0.35081	D	0.763435	B;B	0.15719	0.006;0.014	B;B	0.14578	0.011;0.002	T	0.31668	-0.9935	10	0.15066	T	0.55	.	6.8825	0.24181	0.1305:0.6763:0.1256:0.0676	.	62;62	F6VVE8;P48060	.;GLIP1_HUMAN	A	62	ENSP00000266659:P62A;ENSP00000391144:P62A	ENSP00000266659:P62A	P	+	1	0	GLIPR1	74161890	0.000000	0.05858	0.815000	0.32552	0.912000	0.54170	-0.409000	0.07160	0.813000	0.34350	0.655000	0.94253	CCA		0.453	GLIPR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405722.1	NM_006851		29	131	0	0	0	1	0	29	131					G	75875623	C	G	75875623	3	3	366	1	0	0	0	0	1	0	0	0	6441	623	22	5	190	5	GLIPR1	12	75875623	Missense_Mutation	SNP	C	TCGA-TP-A8TT-01A-12D-A41K-08	22363455	75875623	57976272	13	18254											
UBC	7316	broad.mit.edu	37	chr12	125397652	125397652	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atcccacctctgagacggagTaccaggtgcaaggtggactc	10	7	12	12	1	1	1	0	1	1	1	3	4	2	3	3	4	2	2	3	4	2	1	rs533073686	byFrequency	TCGA-TP-A8TT-01A-12D-A41K-08	TCGA-TP-A8TT-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8c79fa3-a242-4536-90de-33daeb65c445	34b3bfff-3049-4177-99a4-9ac6332a5ce9	g.chr12:125397652T>C	ENST00000536769.1	-	1	2242	c.666A>G	c.(664-666)gtA>gtG	p.V222V	UBC_ENST00000339647.5_Silent_p.V222V|UBC_ENST00000538617.1_Intron|UBC_ENST00000546120.1_Silent_p.V146V|MIR5188_ENST00000583467.1_RNA|UBC_ENST00000536661.1_5'Flank			P0CG48	UBC_HUMAN	ubiquitin C	222	Ubiquitin-like 3. {ECO:0000255|PROSITE- ProRule:PRU00214}.				activation of MAPK activity (GO:0000187)|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|carbohydrate metabolic process (GO:0005975)|cellular response to hypoxia (GO:0071456)|cytokine-mediated signaling pathway (GO:0019221)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|endosomal transport (GO:0016197)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|intracellular transport of virus (GO:0075733)|ion transmembrane transport (GO:0034220)|JNK cascade (GO:0007254)|membrane organization (GO:0061024)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of type I interferon production (GO:0032480)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of apoptotic process (GO:0043065)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of type I interferon production (GO:0032479)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|stress-activated MAPK cascade (GO:0051403)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|transmembrane transport (GO:0055085)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral protein processing (GO:0019082)|virion assembly (GO:0019068)	cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|protease binding (GO:0002020)			breast(3)|endometrium(4)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308)		TGAGACGGAGTACCAGGTGCA	0.512													-|||	5	0.000998403	0	0	5008	,	,		27834	0.004		0	False		,,,				2504	0.001					ENST00000536769.1																			0				breast(3)|endometrium(4)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(664-666)gtA>gtG		ubiquitin C							228	202	211					12																	125397652		2203	4299	6502	SO:0001819	synonymous_variant	7316				activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|viral reproduction	cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane	protein binding	g.chr12:125397652T>C		CCDS9260.1	12q24.3	2008-09-08			ENSG00000150991	ENSG00000150991			12468	protein-coding gene	gene with protein product	"polyubiquitin-C"	191340				1315303, 11872750	Standard	NM_021009		Approved		uc001ugs.4	P0CG48		ENST00000536769.1:c.666A>G	12.37:g.125397652T>C						UBC_ENST00000339647.5_Silent_p.V222V|UBC_ENST00000546120.1_Silent_p.V146V|UBC_ENST00000538617.1_Intron	p.V222V			P0CG48	UBC_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308)	1	2242	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		222			Ubiquitin-like 3.		P02248|P02249|P02250|P62988|Q29120|Q6LBL4|Q6LDU5|Q8WYN8|Q91887|Q91888|Q9BWD6|Q9BX98|Q9UEF2|Q9UEG1|Q9UEK8|Q9UPK7	Silent	SNP	ENST00000536769.1	37	c.666A>G	CCDS9260.1																																																																																				0.512	UBC-007	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400177.1	NM_021009		4	97	0	0	0	1	0	4	97					C	125397652	T	C	125397652	2	2	366	1	0	0	0	0	0	0	0	1	16839	1625	57	4		4	UBC	12	125397652	Silent	SNP	T	TCGA-TP-A8TT-01A-12D-A41K-08	49522029	125397652	8454243	14	18255											
OXA1L	5018	broad.mit.edu	37	chr14	23235889	23235889	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcttactgcgcaggcgcaaaAgcaagtcctcttccgggcaa	10	8	10	13	3	2	0	0	0	2	0	4	0	4	0	2	2	3	4	2	2	5	2			TCGA-TP-A8TT-01A-12D-A41K-08	TCGA-TP-A8TT-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8c79fa3-a242-4536-90de-33daeb65c445	34b3bfff-3049-4177-99a4-9ac6332a5ce9	g.chr14:23235889A>T	ENST00000285848.5	+	1	159	c.159A>T	c.(157-159)aaA>aaT	p.K53N	OXA1L_ENST00000358043.5_5'Flank|OXA1L_ENST00000604262.1_5'UTR|OXA1L_ENST00000412791.1_5'Flank|CTD-2555K7.2_ENST00000554857.1_RNA|CTD-2555K7.2_ENST00000553792.1_RNA|CTD-2555K7.2_ENST00000554730.1_RNA	NM_005015.3	NP_005006.3	Q15070	OXA1L_HUMAN	oxidase (cytochrome c) assembly 1-like	0					aerobic respiration (GO:0009060)|mitochondrial proton-transporting ATP synthase complex assembly (GO:0033615)|mitochondrial respiratory chain complex I assembly (GO:0032981)|mitochondrial respiratory chain complex I biogenesis (GO:0097031)|negative regulation of ATPase activity (GO:0032780)|negative regulation of oxidoreductase activity (GO:0051354)|oxidation-reduction process (GO:0055114)|protein complex assembly (GO:0006461)|protein insertion into membrane (GO:0051205)|protein tetramerization (GO:0051262)	integral component of mitochondrial membrane (GO:0032592)|mitochondrial membrane (GO:0031966)|mitochondrial respiratory chain (GO:0005746)|mitochondrion (GO:0005739)|protein complex (GO:0043234)	mitochondrial ribosome binding (GO:0097177)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(5)|skin(2)	19	all_cancers(95;8.44e-05)			GBM - Glioblastoma multiforme(265;0.0096)		CAGGCGCAAAAGCAAGTCCTC	0.592																																						ENST00000285848.5																			0				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(5)|skin(2)	19						c.(157-159)aaA>aaT		oxidase (cytochrome c) assembly 1-like							98	109	105					14																	23235889		2203	4300	6503	SO:0001583	missense	5018				aerobic respiration|mitochondrial proton-transporting ATP synthase complex assembly|mitochondrial respiratory chain complex I assembly|negative regulation of ATPase activity|negative regulation of oxidoreductase activity|protein insertion into membrane|protein tetramerization	integral to mitochondrial membrane|mitochondrial respiratory chain|protein complex	protein homodimerization activity|ribosome binding	g.chr14:23235889A>T		CCDS9573.1	14q11.2	2009-05-26			ENSG00000155463	ENSG00000155463			8526	protein-coding gene	gene with protein product		601066				8586451, 19349278	Standard	NM_005015		Approved	MGC133129, OXA1	uc001wgn.2	Q15070	OTTHUMG00000028691	ENST00000285848.5:c.159A>T	14.37:g.23235889A>T	ENSP00000285848:p.Lys53Asn					OXA1L_ENST00000604262.1_5'UTR	p.K53N	NM_005015.3	NP_005006.3	Q15070	OXA1L_HUMAN		GBM - Glioblastoma multiforme(265;0.0096)	1	159	+	all_cancers(95;8.44e-05)		0					B4DPA2	Missense_Mutation	SNP	ENST00000285848.5	37	c.159A>T	CCDS9573.1	.	.	.	.	.	.	.	.	.	.	A	9.410	1.080290	0.20309	.	.	ENSG00000155463	ENST00000285848	T	0.31510	1.49	5.05	-6.66	0.01789	.	1.178910	0.06650	N	0.762502	T	0.11324	0.0276	N	0.08118	0	0.09310	N	0.999996	B	0.02656	0.0	B	0.01281	0.0	T	0.21348	-1.0248	10	0.42905	T	0.14	0.7189	1.6716	0.02813	0.4734:0.1888:0.0973:0.2405	.	53	Q2M1J6	.	N	53	ENSP00000285848:K53N	ENSP00000285848:K53N	K	+	3	2	OXA1L	22305729	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.924000	0.03996	-1.098000	0.03038	-1.831000	0.00592	AAA		0.592	OXA1L-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000071630.2	NM_005015		34	85	0	0	0	1	0	34	85					T	23235889	A	T	23235889	3	4	366	1	0	0	0	0	1	0	0	0	11328	69	3	5	161	5	OXA1L	14	23235889	Missense_Mutation	SNP	A	TCGA-TP-A8TT-01A-12D-A41K-08		23235889	84113651	15	18256											
C14orf115	55237	broad.mit.edu	37	chr14	74825278	74825278	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtgggggcttcttcagaaGatgtagagggagggccttcc	7	10	16	8	0	2	3	1	0	1	3	3	4	3	4	2	4	0	2	2	4	2	4			TCGA-TP-A8TT-01A-12D-A41K-08	TCGA-TP-A8TT-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8c79fa3-a242-4536-90de-33daeb65c445	34b3bfff-3049-4177-99a4-9ac6332a5ce9	g.chr14:74825278G>T	ENST00000256362.4	+	2	2033	c.1792G>T	c.(1792-1794)Gat>Tat	p.D598Y		NM_018228.2	NP_060698.2	Q9H8Y1	VRTN_HUMAN	vertebrae development associated	598					transposition, DNA-mediated (GO:0006313)		sequence-specific DNA binding (GO:0043565)|transposase activity (GO:0004803)			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(15)|ovary(5)|prostate(2)|skin(1)|urinary_tract(1)	41						TTCTTCAGAAGATGTAGAGGG	0.662																																						ENST00000256362.4																			0				NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(15)|ovary(5)|prostate(2)|skin(1)|urinary_tract(1)	41						c.(1792-1794)Gat>Tat		vertebrae development associated							28	35	33					14																	74825278		2199	4299	6498	SO:0001583	missense	55237				transposition, DNA-mediated		DNA binding|transposase activity	g.chr14:74825278G>T	AK001673	CCDS9830.1	14q24.2	2012-12-07	2012-12-07	2010-10-20	ENSG00000133980	ENSG00000133980			20223	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 115", "vertebrae development homolog (pig)"	C14orf115		21232157	Standard	NM_018228		Approved	FLJ10811, vertnin	uc001xpw.4	Q9H8Y1	OTTHUMG00000171208	ENST00000256362.4:c.1792G>T	14.37:g.74825278G>T	ENSP00000256362:p.Asp598Tyr						p.D598Y	NM_018228.2	NP_060698.2	Q9H8Y1	VRTN_HUMAN			2	2033	+			598					Q9NVC7	Missense_Mutation	SNP	ENST00000256362.4	37	c.1792G>T	CCDS9830.1	.	.	.	.	.	.	.	.	.	.	G	11.79	1.743367	0.30865	.	.	ENSG00000133980	ENST00000256362	T	0.52983	0.64	4.14	-0.974	0.10293	.	1.597380	0.03856	U	0.273184	T	0.24084	0.0583	N	0.08118	0	0.09310	N	1	B	0.33379	0.41	B	0.25884	0.064	T	0.18398	-1.0338	10	0.59425	D	0.04	0.0513	4.0987	0.10004	0.402:0.1752:0.4229:0.0	.	598	Q9H8Y1	VRTN_HUMAN	Y	598	ENSP00000256362:D598Y	ENSP00000256362:D598Y	D	+	1	0	VRTN	73895031	0.000000	0.05858	0.089000	0.20774	0.147000	0.21601	-0.743000	0.04845	-0.071000	0.12886	0.491000	0.48974	GAT		0.662	VRTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412339.1	NM_018228		11	28	1	0	0.010729	1	0.0111339	11	28					T	74825278	G	T	74825278	3	4	366	1	0	0	0	0	1	0	0	0	1740	942	33	5	1794	5	C14orf115	14	74825278	Missense_Mutation	SNP	G	TCGA-TP-A8TT-01A-12D-A41K-08	51589389	74825278	32524262	16	18257											
CHRM5	1133	broad.mit.edu	37	chr15	34355863	34355863	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcagaggatgaggacaagccCgccactgaccctgtcctcca	10	6	10	15	1	1	3	1	2	0	1	3	5	3	5	5	2	1	0	5	2	1	0	rs151106804		TCGA-TP-A8TT-01A-12D-A41K-08	TCGA-TP-A8TT-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8c79fa3-a242-4536-90de-33daeb65c445	34b3bfff-3049-4177-99a4-9ac6332a5ce9	g.chr15:34355863C>T	ENST00000383263.5	+	3	1615	c.945C>T	c.(943-945)ccC>ccT	p.P315P	CHRM5_ENST00000557872.1_Silent_p.P315P	NM_012125.3	NP_036257.1	P08912	ACM5_HUMAN	cholinergic receptor, muscarinic 5	315					adenylate cyclase-inhibiting G-protein coupled acetylcholine receptor signaling pathway (GO:0007197)|cell proliferation (GO:0008283)|dopamine transport (GO:0015872)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|gastric acid secretion (GO:0001696)|metabolic process (GO:0008152)|regulation of phosphatidylinositol dephosphorylation (GO:0060304)|transmission of nerve impulse (GO:0019226)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	G-protein coupled acetylcholine receptor activity (GO:0016907)|phosphatidylinositol phospholipase C activity (GO:0004435)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|skin(1)	20		all_lung(180;1.76e-08)		all cancers(64;4.82e-17)|GBM - Glioblastoma multiforme(113;2.58e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0262)	Aclidinium(DB08897)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Aripiprazole(DB01238)|Atropine(DB00572)|Brompheniramine(DB00835)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Cryptenamine(DB00785)|Darifenacin(DB00496)|Desipramine(DB01151)|Doxepin(DB01142)|Fesoterodine(DB06702)|Homatropine Methylbromide(DB00725)|Imipramine(DB00458)|Ketamine(DB01221)|Loxapine(DB00408)|Maprotiline(DB00934)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Nicardipine(DB00622)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Paroxetine(DB00715)|Pethidine(DB00454)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Scopolamine(DB00747)|Solifenacin(DB01591)|Tolterodine(DB01036)|Trihexyphenidyl(DB00376)|Trimipramine(DB00726)|Ziprasidone(DB00246)	AGGACAAGCCCGCCACTGACC	0.552																																						ENST00000383263.5																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|skin(1)	20						c.(943-945)ccC>ccT		cholinergic receptor, muscarinic 5	Atropine(DB00572)|Benzquinamide(DB00767)|Cryptenamine(DB00785)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Thiethylperazine(DB00372)	T		0,4402		0,0,2201	73	80	78		945	-0.7	0	15	dbSNP_134	78	1,8595	1.2+/-3.3	0,1,4297	no	coding-synonymous	CHRM5	NM_012125.3		0,1,6498	TT,TC,CC		0.0116,0.0,0.0077		315/533	34355863	1,12997	2201	4298	6499	SO:0001819	synonymous_variant	0				cell proliferation|inhibition of adenylate cyclase activity by muscarinic acetylcholine receptor signaling pathway	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity	g.chr15:34355863C>T		CCDS10031.1	15q26	2012-08-08			ENSG00000184984	ENSG00000184984		"Cholinergic receptors", "GPCR / Class A : Cholinergic receptors, muscarinic"	1954	protein-coding gene	gene with protein product	"acetylcholine receptor, muscarinic 5"	118496					Standard	NM_012125		Approved		uc001zhk.1	P08912	OTTHUMG00000129369	ENST00000383263.5:c.945C>T	15.37:g.34355863C>T						CHRM5_ENST00000557872.1_Silent_p.P315P	p.P315P	NM_012125.3	NP_036257.1	P08912	ACM5_HUMAN		all cancers(64;4.82e-17)|GBM - Glioblastoma multiforme(113;2.58e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0262)	3	1615	+		all_lung(180;1.76e-08)	315					Q96RG7	Silent	SNP	ENST00000383263.5	37	c.945C>T	CCDS10031.1																																																																																				0.552	CHRM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251521.2			12	41	0	0	0	1	0	12	41					T	34355863	C	T	34355863	2	4	366	1	0	0	0	0	0	0	0	1	3380	639	23	2		2	CHRM5	15	34355863	Silent	SNP	C	TCGA-TP-A8TT-01A-12D-A41K-08		34355863	68175529	17	18258											
APH1B	83464	broad.mit.edu	37	chr15	63569916	63569916	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcgccaccgagccgttgcgtAtcatcttcctcatcgccggg	5	10	10	16	6	3	0	2	0	1	0	6	1	4	0	5	1	2	2	5	1	1	3			TCGA-TP-A8TT-01A-12D-A41K-08	TCGA-TP-A8TT-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8c79fa3-a242-4536-90de-33daeb65c445	34b3bfff-3049-4177-99a4-9ac6332a5ce9	g.chr15:63569916A>T	ENST00000261879.5	+	1	164	c.94A>T	c.(94-96)Atc>Ttc	p.I32F	APH1B_ENST00000380343.4_Missense_Mutation_p.I32F	NM_001145646.1|NM_031301.3	NP_001139118.1|NP_112591.2	Q8WW43	APH1B_HUMAN	APH1B gamma secretase subunit	32					apoptotic signaling pathway (GO:0097190)|membrane protein intracellular domain proteolysis (GO:0031293)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|positive regulation of apoptotic process (GO:0043065)|positive regulation of catalytic activity (GO:0043085)|protein processing (GO:0016485)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|transport vesicle (GO:0030133)	peptidase activity (GO:0008233)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|stomach(1)|upper_aerodigestive_tract(1)	12						GCCGTTGCGTATCATCTTCCT	0.692																																						ENST00000261879.5																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|stomach(1)|upper_aerodigestive_tract(1)	12						c.(94-96)Atc>Ttc		APH1B gamma secretase subunit							49	49	49					15																	63569916		2203	4300	6503	SO:0001583	missense	83464				apoptosis|induction of apoptosis by extracellular signals|membrane protein intracellular domain proteolysis|nerve growth factor receptor signaling pathway|Notch receptor processing|Notch signaling pathway|positive regulation of catalytic activity|protein processing	integral to membrane|plasma membrane|transport vesicle	peptidase activity|protein binding	g.chr15:63569916A>T	AY358698	CCDS10184.1, CCDS45276.1	15q22.2	2013-05-01	2013-05-01		ENSG00000138613	ENSG00000138613			24080	protein-coding gene	gene with protein product		607630	"anterior pharynx defective 1 homolog B (C. elegans)"			12110170, 11230166	Standard	NM_031301		Approved	PSFL, APH-1B, DKFZp564D0372	uc002ama.3	Q8WW43	OTTHUMG00000132863	ENST00000261879.5:c.94A>T	15.37:g.63569916A>T	ENSP00000261879:p.Ile32Phe					APH1B_ENST00000380343.4_Missense_Mutation_p.I32F	p.I32F	NM_001145646.1|NM_031301.3	NP_001139118.1|NP_112591.2	Q8WW43	APH1B_HUMAN			1	164	+			32					A8K589|Q564N3|Q6UWQ1|Q9H0S0	Missense_Mutation	SNP	ENST00000261879.5	37	c.94A>T	CCDS10184.1	.	.	.	.	.	.	.	.	.	.	A	12.01	1.810675	0.32053	.	.	ENSG00000138613	ENST00000380343;ENST00000261879;ENST00000380340	T;T;T	0.54479	0.57;0.57;0.57	4.11	-2.96	0.05547	.	0.513806	0.18742	N	0.132428	T	0.62732	0.2452	M	0.84082	2.675	0.32573	N	0.529528	P;P	0.47841	0.901;0.901	P;P	0.52386	0.697;0.697	T	0.70655	-0.4812	10	0.87932	D	0	-3.412	12.2239	0.54449	0.4012:0.0:0.5988:0.0	.	32;32	Q564N3;Q8WW43	.;APH1B_HUMAN	F	32	ENSP00000369700:I32F;ENSP00000261879:I32F;ENSP00000369697:I32F	ENSP00000261879:I32F	I	+	1	0	APH1B	61356969	0.880000	0.30214	0.108000	0.21378	0.087000	0.18053	0.613000	0.24299	-1.129000	0.02918	-1.478000	0.00992	ATC		0.692	APH1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256337.1	NM_031301		27	53	0	0	0	1	0	27	53					T	63569916	A	T	63569916	3	4	366	1	0	0	0	0	1	0	0	0	772	449	16	5	96	5	APH1B	15	63569916	Missense_Mutation	SNP	A	TCGA-TP-A8TT-01A-12D-A41K-08	29214053	63569916	38961476	18	18259											
CARHSP1	23589	broad.mit.edu	37	chr16	8949166	8949169	+	Frame_Shift_Del	DEL	ACAT	ACAT	-																															cctcgtcgccttccactgggAcatactccccttccacacta																										TCGA-TP-A8TT-01A-12D-A41K-08	TCGA-TP-A8TT-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8c79fa3-a242-4536-90de-33daeb65c445	34b3bfff-3049-4177-99a4-9ac6332a5ce9	g.chr16:8949166_8949169delACAT	ENST00000396593.2	-	4	655_658	c.296_299delATGT	c.(295-300)tatgtcfs	p.YV99fs	CARHSP1_ENST00000311052.5_Frame_Shift_Del_p.YV99fs|CARHSP1_ENST00000567554.1_Frame_Shift_Del_p.YV99fs|RP11-77H9.5_ENST00000564919.1_RNA|RP11-77H9.2_ENST00000565934.1_RNA|CARHSP1_ENST00000561530.1_Frame_Shift_Del_p.YV99fs	NM_001042476.1|NM_001278260.1|NM_001278261.1|NM_001278262.1|NM_001278263.1|NM_001278264.1|NM_001278265.1|NM_001278266.1|NM_014316.3	NP_001035941.1|NP_001265189.1|NP_001265190.1|NP_001265191.1|NP_001265192.1|NP_001265193.1|NP_001265194.1|NP_001265195.1|NP_055131.2	Q9Y2V2	CHSP1_HUMAN	calcium regulated heat stable protein 1, 24kDa	99	CSD.				intracellular signal transduction (GO:0035556)|regulation of mRNA stability (GO:0043488)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasmic exosome (RNase complex) (GO:0000177)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|P granule (GO:0043186)	DNA binding (GO:0003677)|mRNA 3'-UTR binding (GO:0003730)|phosphatase binding (GO:0019902)			endometrium(2)|lung(1)	3						TTCCACTGGGACATACTCCCCTTC	0.569																																						ENST00000396593.2																			0				endometrium(2)|lung(1)	3						c.(295-300)tcfs		calcium regulated heat stable protein 1, 24kDa																																				SO:0001589	frameshift_variant	23589				intracellular signal transduction|regulation of mRNA stability|regulation of transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol|P granule	DNA binding|mRNA 3'-UTR binding|phosphatase binding	g.chr16:8949166_8949169delACAT	AF115345	CCDS10537.1	16p13.2	2008-02-05	2002-08-29		ENSG00000153048	ENSG00000153048			17150	protein-coding gene	gene with protein product			"calcium regulated heat stable protein 1 (24kD)"			9712905	Standard	NM_014316		Approved	CRHSP-24, CSDC1	uc031quz.1	Q9Y2V2	OTTHUMG00000129695	ENST00000396593.2:c.296_299delATGT	16.37:g.8949166_8949169delACAT	ENSP00000379838:p.Tyr99fs					RP11-77H9.2_ENST00000565934.1_RNA|CARHSP1_ENST00000561530.1_Frame_Shift_Del_p.YV99fs|CARHSP1_ENST00000311052.5_Frame_Shift_Del_p.YV99fs|CARHSP1_ENST00000567554.1_Frame_Shift_Del_p.YV99fs	p.YV99fs	NM_001042476.1|NM_001278260.1|NM_001278261.1|NM_001278262.1|NM_001278263.1|NM_001278264.1|NM_001278265.1|NM_001278266.1|NM_014316.3	NP_001035941.1|NP_001265189.1|NP_001265190.1|NP_001265191.1|NP_001265192.1|NP_001265193.1|NP_001265194.1|NP_001265195.1|NP_055131.2	Q9Y2V2	CHSP1_HUMAN			4	655_658	-			99			CSD.		B2R4C3|D3DUF5|Q2YDX5|Q9BQ53	Frame_Shift_Del	DEL	ENST00000396593.2	37	c.296_299delATGT	CCDS10537.1																																																																																				0.569	CARHSP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251902.1	NM_014316		7	32						7	32	---	---	---	---	-	8949169	ACAT	-	8949166	7	5	366	1	0	1	0	1	0	0	0	0	2653	275	10	0	148	0	CARHSP1	16	8949166	Frame_Shift_Del	DEL	ACAT	TCGA-TP-A8TT-01A-12D-A41K-08		8949166	81405587	19	18260											
SLC43A2	124935	broad.mit.edu	37	chr17	1486509	1486509	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cacacccacctggagaggcaGgttgggaatgaggcaggtca	11	5	15	10	0	1	2	1	1	0	1	1	4	1	3	2	6	0	3	2	6	1	1			TCGA-TP-A8TT-01A-12D-A41K-08	TCGA-TP-A8TT-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8c79fa3-a242-4536-90de-33daeb65c445	34b3bfff-3049-4177-99a4-9ac6332a5ce9	g.chr17:1486509G>C	ENST00000301335.5	-	11	1427	c.1339C>G	c.(1339-1341)Ctg>Gtg	p.L447V	SLC43A2_ENST00000382147.4_Missense_Mutation_p.L451V|SLC43A2_ENST00000571650.1_Missense_Mutation_p.L451V|SLC43A2_ENST00000412517.3_Missense_Mutation_p.L310V	NM_001284498.1|NM_001284499.1	NP_001271427.1|NP_001271428.1	Q8N370	LAT4_HUMAN	solute carrier family 43 (amino acid system L transporter), member 2	447					amino acid transport (GO:0006865)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	L-amino acid transmembrane transporter activity (GO:0015179)			endometrium(4)|large_intestine(4)|liver(1)|lung(2)|upper_aerodigestive_tract(1)	12				UCEC - Uterine corpus endometrioid carcinoma (25;0.0883)		TGGAGAGGCAGGTTGGGAATG	0.577																																						ENST00000571650.1																			0				endometrium(4)|large_intestine(4)|liver(1)|lung(2)|upper_aerodigestive_tract(1)	12						c.(1351-1353)Ctg>Gtg		solute carrier family 43 (amino acid system L transporter), member 2							71	73	72					17																	1486509		2203	4300	6503	SO:0001583	missense	124935				cellular nitrogen compound metabolic process|ion transport	integral to membrane|plasma membrane		g.chr17:1486509G>C	BC027923	CCDS11006.1, CCDS67107.1, CCDS67108.1	17p13.3	2013-07-17	2013-07-17		ENSG00000167703	ENSG00000167703		"Solute carriers"	23087	protein-coding gene	gene with protein product		610791				23268354	Standard	NM_001284498		Approved	MGC34680	uc002fsv.3	Q8N370	OTTHUMG00000090345	ENST00000301335.5:c.1339C>G	17.37:g.1486509G>C	ENSP00000301335:p.Leu447Val					SLC43A2_ENST00000301335.4_Missense_Mutation_p.L447V|SLC43A2_ENST00000382147.4_Missense_Mutation_p.L451V|SLC43A2_ENST00000412517.3_Missense_Mutation_p.L310V	p.L451V			Q8N370	LAT4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.0883)	12	1657	-			447					B7Z6X9|C9JNU8|D3DTH9|Q5CD75|Q6IPM1|Q8NBX1|Q8NC21|Q8WZ00	Missense_Mutation	SNP	ENST00000301335.5	37	c.1351C>G	CCDS11006.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.941148	0.73557	.	.	ENSG00000167703	ENST00000301335;ENST00000382147;ENST00000412517	D;D;D	0.81659	-1.52;-1.52;-1.52	5.67	3.68	0.42216	Major facilitator superfamily domain, general substrate transporter (1);	0.000000	0.85682	D	0.000000	D	0.88826	0.6542	M	0.83312	2.635	0.54753	D	0.999984	D;D	0.89917	1.0;0.985	D;P	0.80764	0.994;0.747	D	0.87485	0.2423	10	0.33141	T	0.24	-14.1775	12.9678	0.58494	0.1327:0.0:0.8673:0.0	.	447;451	Q8N370;Q8N370-3	LAT4_HUMAN;.	V	447;451;310	ENSP00000301335:L447V;ENSP00000371582:L451V;ENSP00000408284:L310V	ENSP00000301335:L447V	L	-	1	2	SLC43A2	1433259	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	4.797000	0.62503	0.869000	0.35703	-0.150000	0.13652	CTG		0.577	SLC43A2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000206717.4	NM_152346		15	39	0	0	0	1	0	15	39					C	1486509	G	C	1486509	3	2	366	1	0	0	0	0	1	0	0	0	14633	991	35	5	386	5	SLC43A2	17	1486509	Missense_Mutation	SNP	G	TCGA-TP-A8TT-01A-12D-A41K-08		1486509	79708701	20	18261											
DNAH9	1770	broad.mit.edu	37	chr17	11827215	11827215	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggaagtggtggctgaggctgCgctggacctcgctgccaaga	7	7	17	10	2	0	2	0	1	0	1	1	4	0	4	2	5	2	4	2	5	2	0	rs376820901		TCGA-TP-A8TT-01A-12D-A41K-08	TCGA-TP-A8TT-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8c79fa3-a242-4536-90de-33daeb65c445	34b3bfff-3049-4177-99a4-9ac6332a5ce9	g.chr17:11827215C>T	ENST00000262442.4	+	62	11902	c.11834C>T	c.(11833-11835)gCg>gTg	p.A3945V	DNAH9_ENST00000396001.2_3'UTR|DNAH9_ENST00000454412.2_Missense_Mutation_p.A3945V|DNAH9_ENST00000608377.1_Missense_Mutation_p.A257V	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	3945	AAA 6. {ECO:0000250}.				cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		GCTGAGGCTGCGCTGGACCTC	0.493																																						ENST00000262442.3																			0				NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290						c.(11833-11835)gCg>gTg		dynein, axonemal, heavy chain 9		C	VAL/ALA,VAL/ALA	0,4406		0,0,2203	165	134	145		11834,770	0.7	0.6	17		145	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	DNAH9	NM_001372.3,NM_004662.2	64,64	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging	3945/4487,257/799	11827215	1,13005	2203	4300	6503	SO:0001583	missense	1770				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:11827215C>T	U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"Axonemal dyneins"	2953	protein-coding gene	gene with protein product		603330	"dynein, axonemal, heavy polypeptide 17-like", "dynein, axonemal, heavy polypeptide 9"	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.11834C>T	17.37:g.11827215C>T	ENSP00000262442:p.Ala3945Val					DNAH9_ENST00000454412.2_Missense_Mutation_p.A3945V|DNAH9_ENST00000396001.2_Missense_Mutation_p.A257V	p.A3945V	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)	62	11902	+		Breast(5;0.0122)|all_epithelial(5;0.131)	3945			AAA 6 (By similarity).		A2VCQ8|O15064|O95494|Q9NQ28	Missense_Mutation	SNP	ENST00000262442.4	37	c.11834C>T	CCDS11160.1	.	.	.	.	.	.	.	.	.	.	C	17.62	3.434994	0.62955	0.0	1.16E-4	ENSG00000007174	ENST00000262442;ENST00000454412;ENST00000413703;ENST00000396001;ENST00000361801	T;T;T	0.09445	2.98;2.98;2.98	4.98	0.667	0.17907	Dynein heavy chain (1);	0.287190	0.38720	N	0.001595	T	0.13243	0.0321	M	0.78801	2.425	0.48341	D	0.999638	B;P	0.34977	0.113;0.478	B;B	0.37780	0.072;0.258	T	0.04115	-1.0976	10	0.31617	T	0.26	.	6.2195	0.20673	0.0:0.6376:0.1338:0.2286	.	298;3945	B7Z7H0;Q9NYC9	.;DYH9_HUMAN	V	3945;3945;2527;257;298	ENSP00000262442:A3945V;ENSP00000414874:A3945V;ENSP00000379323:A257V	ENSP00000262442:A3945V	A	+	2	0	DNAH9	11767940	0.997000	0.39634	0.552000	0.28243	0.963000	0.63663	3.868000	0.56055	0.013000	0.14918	0.561000	0.74099	GCG		0.493	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2	NM_001372		25	83	0	0	0	1	0	25	83					T	11827215	C	T	11827215	3	4	366	1	0	0	0	0	1	0	0	0	4608	768	27	1	12080	1	DNAH9	17	11827215	Missense_Mutation	SNP	C	TCGA-TP-A8TT-01A-12D-A41K-08	10340706	11827215	69367995	21	18262											
GAS2L2	246176	broad.mit.edu	37	chr17	34072229	34072229	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgggaccctcttgggcttccGgagagttctcctgcccttgc	3	11	12	15	2	2	1	0	0	2	1	4	3	3	2	4	3	2	2	4	3	0	4			TCGA-TP-A8TT-01A-12D-A41K-08	TCGA-TP-A8TT-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8c79fa3-a242-4536-90de-33daeb65c445	34b3bfff-3049-4177-99a4-9ac6332a5ce9	g.chr17:34072229G>A	ENST00000254466.6	-	6	2314	c.2287C>T	c.(2287-2289)Cgg>Tgg	p.R763W	GAS2L2_ENST00000587565.1_Missense_Mutation_p.R747W	NM_139285.3	NP_644814.1	Q8NHY3	GA2L2_HUMAN	growth arrest-specific 2 like 2	763					cell cycle arrest (GO:0007050)|microtubule bundle formation (GO:0001578)|negative regulation of microtubule depolymerization (GO:0007026)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	actin filament binding (GO:0051015)|cytoskeletal adaptor activity (GO:0008093)|microtubule binding (GO:0008017)			central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		TTGGGCTTCCGGAGAGTTCTC	0.607																																						ENST00000254466.6																			0				central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						c.(2287-2289)Cgg>Tgg		growth arrest-specific 2 like 2							92	99	96					17																	34072229		2203	4300	6503	SO:0001583	missense	246176				cell cycle arrest	cytoplasm|cytoskeleton		g.chr17:34072229G>A	AF508784	CCDS11298.1	17q21	2014-05-06			ENSG00000132139	ENSG00000270765			24846	protein-coding gene	gene with protein product		611398				12584248	Standard	NM_139285		Approved	GAR17	uc002hjv.2	Q8NHY3	OTTHUMG00000188386	ENST00000254466.6:c.2287C>T	17.37:g.34072229G>A	ENSP00000254466:p.Arg763Trp					GAS2L2_ENST00000587565.1_Missense_Mutation_p.R747W	p.R763W	NM_139285.3	NP_644814.1	Q8NHY3	GA2L2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)	6	2314	-		Ovarian(249;0.17)	763					Q8NHY4	Missense_Mutation	SNP	ENST00000254466.6	37	c.2287C>T	CCDS11298.1	.	.	.	.	.	.	.	.	.	.	G	14.29	2.490331	0.44249	.	.	ENSG00000132139	ENST00000254466	T	0.23754	1.89	4.56	2.38	0.29361	.	0.265381	0.28712	N	0.014395	T	0.35682	0.0940	L	0.32530	0.975	0.33307	D	0.565625	D	0.89917	1.0	D	0.77004	0.989	T	0.49652	-0.8917	10	0.87932	D	0	-26.056	10.2918	0.43601	0.0:0.0:0.4537:0.5462	.	763	Q8NHY3	GA2L2_HUMAN	W	763	ENSP00000254466:R763W	ENSP00000254466:R763W	R	-	1	2	GAS2L2	31096342	1.000000	0.71417	0.999000	0.59377	0.273000	0.26683	2.800000	0.47900	1.142000	0.42291	0.462000	0.41574	CGG		0.607	GAS2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256497.1	NM_139285		39	99	0	0	0	1	0	39	99					A	34072229	G	A	34072229	3	1	366	1	0	0	0	0	1	0	0	0	6247	1115	39	2	359	2	GAS2L2	17	34072229	Missense_Mutation	SNP	G	TCGA-TP-A8TT-01A-12D-A41K-08	22245014	34072229	47122981	22	18263											
TNS4	84951	broad.mit.edu	37	chr17	38645123	38645123	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aaggaggaggccaccactgcGaagggagccgaagggcgggg	11	1	20	9	3	0	0	0	0	0	0	0	5	0	3	3	7	2	0	3	7	3	0	rs200910076		TCGA-TP-A8TT-01A-12D-A41K-08	TCGA-TP-A8TT-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8c79fa3-a242-4536-90de-33daeb65c445	34b3bfff-3049-4177-99a4-9ac6332a5ce9	g.chr17:38645123G>A	ENST00000254051.6	-	3	696	c.538C>T	c.(538-540)Cgc>Tgc	p.R180C		NM_032865.5	NP_116254.4	Q8IZW8	TENS4_HUMAN	tensin 4	180	Ser-rich.				apoptotic process (GO:0006915)|protein localization (GO:0008104)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	30		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(5;5.91e-05)			CCACCACTGCGAAGGGAGCCG	0.632																																						ENST00000254051.6																			0				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	30						c.(538-540)Cgc>Tgc		tensin 4							50	61	58					17																	38645123		2202	4296	6498	SO:0001583	missense	84951				apoptosis|protein localization	cytoplasm|cytoskeleton|focal adhesion	actin binding	g.chr17:38645123G>A	AF417488	CCDS11368.1	17q21.2	2013-02-14			ENSG00000131746	ENSG00000131746		"SH2 domain containing"	24352	protein-coding gene	gene with protein product	"C terminal tensin like"	608385				12154022, 12711115	Standard	NM_032865		Approved	CTEN	uc010cxb.3	Q8IZW8	OTTHUMG00000133330	ENST00000254051.6:c.538C>T	17.37:g.38645123G>A	ENSP00000254051:p.Arg180Cys						p.R180C	NM_032865.5	NP_116254.4	Q8IZW8	TENS4_HUMAN	STAD - Stomach adenocarcinoma(5;5.91e-05)		3	696	-		Breast(137;0.000496)	180			Ser-rich.		A6NMJ7|Q71RB7|Q8WV64|Q96JV4	Missense_Mutation	SNP	ENST00000254051.6	37	c.538C>T	CCDS11368.1	.	.	.	.	.	.	.	.	.	.	G	12.85	2.062224	0.36373	.	.	ENSG00000131746	ENST00000377816;ENST00000254051	T	0.19105	2.17	5.77	3.76	0.43208	.	0.909290	0.09400	N	0.807418	T	0.17238	0.0414	L	0.29908	0.895	0.09310	N	1	B	0.14438	0.01	B	0.08055	0.003	T	0.23013	-1.0200	10	0.56958	D	0.05	-18.2787	9.3372	0.38058	0.0732:0.0:0.7837:0.143	.	180	Q8IZW8	TENS4_HUMAN	C	180	ENSP00000254051:R180C	ENSP00000254051:R180C	R	-	1	0	TNS4	35898649	0.007000	0.16637	0.025000	0.17156	0.277000	0.26821	1.569000	0.36428	0.771000	0.33359	-0.214000	0.12660	CGC		0.632	TNS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257154.3	NM_032865		28	92	0	0	0	1	0	28	92					A	38645123	G	A	38645123	3	1	366	1	0	0	0	0	1	0	0	0	16342	1058	37	2	1653	2	TNS4	17	38645123	Missense_Mutation	SNP	G	TCGA-TP-A8TT-01A-12D-A41K-08	4572894	38645123	42550087	23	18264											
KRTAP9-3	83900	broad.mit.edu	37	chr17	39389179	39389179	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gagaccacctgctgcaggacCacttgtttccagcccacctg	8	8	9	16	0	0	1	0	0	0	1	1	3	1	2	6	1	3	3	6	1	0	2			TCGA-TP-A8TT-01A-12D-A41K-08	TCGA-TP-A8TT-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8c79fa3-a242-4536-90de-33daeb65c445	34b3bfff-3049-4177-99a4-9ac6332a5ce9	g.chr17:39389179C>A	ENST00000411528.2	+	1	465	c.426C>A	c.(424-426)acC>acA	p.T142T		NM_031962.2	NP_114168.1	Q9BYQ3	KRA93_HUMAN	keratin associated protein 9-3	142	16 X 5 AA repeats of C-C-[RQVSHE]-[SPTN]- [TASPI].					keratin filament (GO:0045095)				breast(1)|endometrium(3)|lung(2)|ovary(1)|prostate(1)	8		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000397)			GCTGCAGGACCACTTGTTTCC	0.567																																						ENST00000411528.2																			0				breast(1)|endometrium(3)|lung(2)|ovary(1)|prostate(1)	8						c.(424-426)acC>acA		keratin associated protein 9-3							132	164	153					17																	39389179		2105	4300	6405	SO:0001819	synonymous_variant	83900					keratin filament	protein binding	g.chr17:39389179C>A	AJ406947	CCDS11385.1	17q21.2	2013-06-25			ENSG00000204873	ENSG00000204873		"Keratin associated proteins"	16927	protein-coding gene	gene with protein product						11279113	Standard	NM_031962		Approved	KAP9.3	uc021txg.1	Q9BYQ3	OTTHUMG00000133427	ENST00000411528.2:c.426C>A	17.37:g.39389179C>A							p.T142T	NM_031962.2	NP_114168.1	Q9BYQ3	KRA93_HUMAN	STAD - Stomach adenocarcinoma(17;0.000397)		1	465	+		Breast(137;0.000496)	142			16 X 5 AA repeats of C-C-[RQVSHE]-[SPTN]- [TASPI].			Silent	SNP	ENST00000411528.2	37	c.426C>A	CCDS11385.1																																																																																				0.567	KRTAP9-3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257290.1			4	148	1	0	3.59834e-05	1	3.88056e-05	4	148					A	39389179	C	A	39389179	2	1	366	1	0	0	0	0	0	0	0	1	8574	581	21	5		5	KRTAP9-3	17	39389179	Silent	SNP	C	TCGA-TP-A8TT-01A-12D-A41K-08	744056	39389179	41806031	24	18265											
DSG3	1830	broad.mit.edu	37	chr18	29046692	29046692	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caacctgtaaagttgcctgcCgtatggagtatcacaaccct	11	10	8	12	1	1	0	1	0	0	0	1	1	1	1	4	1	4	4	4	1	6	4	rs375966622		TCGA-TP-A8TT-01A-12D-A41K-08	TCGA-TP-A8TT-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8c79fa3-a242-4536-90de-33daeb65c445	34b3bfff-3049-4177-99a4-9ac6332a5ce9	g.chr18:29046692C>T	ENST00000257189.4	+	11	1694	c.1611C>T	c.(1609-1611)gcC>gcT	p.A537A		NM_001944.2	NP_001935.2	P32926	DSG3_HUMAN	desmoglein 3	537					apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|homophilic cell adhesion (GO:0007156)	cell junction (GO:0030054)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			AGTTGCCTGCCGTATGGAGTA	0.413																																						ENST00000257189.4																			0				breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	62						c.(1609-1611)gcC>gcT		desmoglein 3		C		0,4406		0,0,2203	88	84	85		1611	-11.5	0	18		85	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	DSG3	NM_001944.2		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		537/1000	29046692	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	1830				cellular component disassembly involved in apoptosis|homophilic cell adhesion	cytosol|desmosome|integral to membrane	calcium ion binding	g.chr18:29046692C>T	M76482	CCDS11898.1	18q12.1	2010-06-24	2010-06-24		ENSG00000134757	ENSG00000134757		"Cadherins / Major cadherins"	3050	protein-coding gene	gene with protein product	"pemphigus vulgaris antigen"	169615	"desmoglein 3 (pemphigus vulgaris antigen)"			1601426	Standard	NM_001944		Approved	CDHF6	uc002kws.3	P32926	OTTHUMG00000131985	ENST00000257189.4:c.1611C>T	18.37:g.29046692C>T							p.A537A	NM_001944.2	NP_001935.2	P32926	DSG3_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.00504)		11	1694	+			537					A8K2V2	Silent	SNP	ENST00000257189.4	37	c.1611C>T	CCDS11898.1																																																																																				0.413	DSG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254949.1	NM_001944		16	55	0	0	0	1	0	16	55					T	29046692	C	T	29046692	2	4	366	1	0	0	0	0	0	0	0	1	4778	639	23	2		2	DSG3	18	29046692	Silent	SNP	C	TCGA-TP-A8TT-01A-12D-A41K-08		29046692	49030556	25	18266											
KIAA1632	57724	broad.mit.edu	37	chr18	43438030	43438030	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agctttgcctcttcctccacGgagctaggggaggcaccgga	7	8	13	13	2	1	0	0	0	1	0	3	3	3	3	4	5	3	3	4	5	1	3	rs556306651		TCGA-TP-A8TT-01A-12D-A41K-08	TCGA-TP-A8TT-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8c79fa3-a242-4536-90de-33daeb65c445	34b3bfff-3049-4177-99a4-9ac6332a5ce9	g.chr18:43438030G>A	ENST00000282041.5	-	42	7264	c.7230C>T	c.(7228-7230)tcC>tcT	p.S2410S	EPG5_ENST00000585906.1_5'UTR	NM_020964.2	NP_066015.2	Q9HCE0	EPG5_HUMAN	ectopic P-granules autophagy protein 5 homolog (C. elegans)	2410					autophagic vacuole maturation (GO:0097352)|autophagy (GO:0006914)|endocytic recycling (GO:0032456)					NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	95						CTTCCTCCACGGAGCTAGGGG	0.468													G|||	1	0.000199681	0	0	5008	,	,		20492	0		0	False		,,,				2504	0.001					ENST00000282041.5																			0				NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	95						c.(7228-7230)tcC>tcT		ectopic P-granules autophagy protein 5 homolog (C. elegans)							49	49	49					18																	43438030		1882	4109	5991	SO:0001819	synonymous_variant	57724				autophagy			g.chr18:43438030G>A	AK023817	CCDS11926.2	18q12.3	2011-03-02	2011-03-02	2011-03-02	ENSG00000152223	ENSG00000152223			29331	protein-coding gene	gene with protein product		615068	"KIAA1632"	KIAA1632		10997877, 20550938	Standard	XM_005258323		Approved	hEPG5	uc002lbm.3	Q9HCE0	OTTHUMG00000132626	ENST00000282041.5:c.7230C>T	18.37:g.43438030G>A						EPG5_ENST00000585906.1_5'UTR	p.S2410S	NM_020964.2	NP_066015.2	Q9HCE0	EPG5_HUMAN			42	7264	-			2410					A2BDF3|Q9H8C8	Silent	SNP	ENST00000282041.5	37	c.7230C>T	CCDS11926.2																																																																																				0.468	EPG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445081.1	NM_020964		3	22	0	0	0	1	0	3	22					A	43438030	G	A	43438030	2	1	366	1	0	0	0	0	0	0	0	1	8249	1103	39	2		2	KIAA1632	18	43438030	Silent	SNP	G	TCGA-TP-A8TT-01A-12D-A41K-08	14391338	43438030	34639218	26	18267											
RGL3	57139	broad.mit.edu	37	chr19	11512789	11512789	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcctctgcagctgctggatgCgggccaggatctcccactcc	5	8	12	16	1	2	0	0	0	2	0	4	2	3	2	4	3	4	3	4	3	0	0			TCGA-TP-A8TT-01A-12D-A41K-08	TCGA-TP-A8TT-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8c79fa3-a242-4536-90de-33daeb65c445	34b3bfff-3049-4177-99a4-9ac6332a5ce9	g.chr19:11512789C>T	ENST00000380456.3	-	13	1445	c.1382G>A	c.(1381-1383)cGc>cAc	p.R461H	RGL3_ENST00000393423.3_Missense_Mutation_p.R461H	NM_001035223.2|NM_001161616.1	NP_001030300.2|NP_001155088.1	Q3MIN7	RGL3_HUMAN	ral guanine nucleotide dissociation stimulator-like 3	461	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				small GTPase mediated signal transduction (GO:0007264)	intracellular (GO:0005622)	Ral guanyl-nucleotide exchange factor activity (GO:0008321)			breast(1)|endometrium(4)|large_intestine(2)|lung(9)|ovary(1)|skin(1)	18						CTGCTGGATGCGGGCCAGGAT	0.667																																					GBM(174;751 2067 17998 27979 33959)	ENST00000380456.3																			0				breast(1)|endometrium(4)|large_intestine(2)|lung(9)|ovary(1)|skin(1)	18						c.(1381-1383)cGc>cAc		ral guanine nucleotide dissociation stimulator-like 3							19	24	22					19																	11512789		2202	4295	6497	SO:0001583	missense	57139				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular		g.chr19:11512789C>T	BC014426	CCDS32910.1, CCDS54221.1	19p13.2	2008-02-05				ENSG00000205517			30282	protein-coding gene	gene with protein product						10869344	Standard	NM_001035223		Approved	FLJ32585	uc002mro.2	Q3MIN7		ENST00000380456.3:c.1382G>A	19.37:g.11512789C>T	ENSP00000369823:p.Arg461His					RGL3_ENST00000393423.3_Missense_Mutation_p.R461H	p.R461H	NM_001035223.2|NM_001161616.1	NP_001030300.2|NP_001155088.1	Q3MIN7	RGL3_HUMAN			13	1445	-			461			Ras-GEF.		B5ME84|B7ZL22|Q0P6G0	Missense_Mutation	SNP	ENST00000380456.3	37	c.1382G>A	CCDS32910.1	.	.	.	.	.	.	.	.	.	.	C	13.61	2.288240	0.40494	.	.	ENSG00000205517	ENST00000342684;ENST00000393423;ENST00000380456	T;T	0.29655	1.56;1.56	4.6	1.14	0.20703	Guanine-nucleotide dissociation stimulator CDC25 (3);Ras guanine nucleotide exchange factor, domain (1);	0.276343	0.36066	N	0.002813	T	0.18383	0.0441	L	0.37561	1.115	0.30920	N	0.728077	B;B;B;B	0.28082	0.169;0.11;0.169;0.2	B;B;B;B	0.19391	0.023;0.011;0.023;0.025	T	0.09509	-1.0671	10	0.62326	D	0.03	.	3.9304	0.09283	0.1565:0.4699:0.0:0.3736	.	461;461;461;258	Q3MIN7;B5ME84;B7ZL22;Q8TEP0	RGL3_HUMAN;.;.;.	H	258;461;461	ENSP00000377075:R461H;ENSP00000369823:R461H	ENSP00000344665:R258H	R	-	2	0	RGL3	11373789	1.000000	0.71417	0.726000	0.30738	0.994000	0.84299	1.686000	0.37669	0.036000	0.15547	0.557000	0.71058	CGC		0.667	RGL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421208.3	XM_290867		11	16	0	0	0	1	0	11	16					T	11512789	C	T	11512789	3	4	366	1	0	0	0	0	1	0	0	0	13278	768	27	1	796	1	RGL3	19	11512789	Missense_Mutation	SNP	C	TCGA-TP-A8TT-01A-12D-A41K-08		11512789	47616194	27	18268											
SIN3B	23309	broad.mit.edu	37	chr19	16973254	16973254	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgagcgacagatccggggacGggataagccgggaaattgat	12	6	16	7	4	0	3	0	2	0	1	1	7	1	6	2	4	2	0	2	4	2	2			TCGA-TP-A8TT-01A-12D-A41K-08	TCGA-TP-A8TT-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8c79fa3-a242-4536-90de-33daeb65c445	34b3bfff-3049-4177-99a4-9ac6332a5ce9	g.chr19:16973254G>A	ENST00000248054.5	+	9	1171	c.1150G>A	c.(1150-1152)Ggg>Agg	p.G384R	SIN3B_ENST00000379803.1_Missense_Mutation_p.G384R|SIN3B_ENST00000595541.1_5'Flank					SIN3 transcription regulator family member B											endometrium(4)|kidney(2)|large_intestine(8)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	26						ATCCGGGGACGGGATAAGCCG	0.542																																						ENST00000379803.1																			0				endometrium(4)|kidney(2)|large_intestine(8)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	26						c.(1150-1152)Ggg>Agg		SIN3 transcription regulator family member B							75	72	73					19																	16973254		2203	4300	6503	SO:0001583	missense	23309				cellular lipid metabolic process|transcription, DNA-dependent	nucleoplasm	protein binding	g.chr19:16973254G>A	AB014600	CCDS32946.1, CCDS74308.1	19p13.12	2013-08-21	2013-08-21						19354	protein-coding gene	gene with protein product		607777	"SIN3 homolog B, transcription regulator (yeast)", "SIN3 transcription regulator homolog B (yeast)"			9734811	Standard	XM_005259832		Approved	KIAA0700	uc002ney.2	O75182		ENST00000248054.5:c.1150G>A	19.37:g.16973254G>A	ENSP00000248054:p.Gly384Arg					SIN3B_ENST00000248054.5_Missense_Mutation_p.G384R	p.G384R	NM_015260.2	NP_056075.1	O75182	SIN3B_HUMAN			9	1164	+			384			Interaction with NCOR1 (By similarity).			Missense_Mutation	SNP	ENST00000248054.5	37	c.1150G>A		.	.	.	.	.	.	.	.	.	.	G	20.5	4.005784	0.74932	.	.	ENSG00000127511	ENST00000379803;ENST00000248054	T;T	0.45668	0.89;0.9	4.73	3.7	0.42460	.	0.105716	0.64402	D	0.000004	T	0.59810	0.2221	M	0.78801	2.425	0.80722	D	1	D;P	0.76494	0.999;0.953	D;P	0.70016	0.967;0.475	T	0.59139	-0.7510	10	0.16420	T	0.52	-9.6331	12.3868	0.55336	0.0823:0.0:0.9177:0.0	.	384;384	O75182-2;O75182	.;SIN3B_HUMAN	R	384	ENSP00000369131:G384R;ENSP00000248054:G384R	ENSP00000248054:G384R	G	+	1	0	SIN3B	16834254	1.000000	0.71417	0.014000	0.15608	0.779000	0.44077	7.773000	0.85462	0.984000	0.38629	0.561000	0.74099	GGG		0.542	SIN3B-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000462846.1	NM_015260		14	34	0	0	0	1	0	14	34					A	16973254	G	A	16973254	3	1	366	1	0	0	0	0	1	0	0	0	14326	1116	39	2	1184	2	SIN3B	19	16973254	Missense_Mutation	SNP	G	TCGA-TP-A8TT-01A-12D-A41K-08	5460465	16973254	42155729	28	18269											
MYH14	79784	broad.mit.edu	37	chr19	50762446	50762446	+	Frame_Shift_Del	DEL	A	A	-																															tgctggaccagcttcgctgcAacggggtcctggagggcatc																										TCGA-TP-A8TT-01A-12D-A41K-08	TCGA-TP-A8TT-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8c79fa3-a242-4536-90de-33daeb65c445	34b3bfff-3049-4177-99a4-9ac6332a5ce9	g.chr19:50762446delA	ENST00000596571.1	+	16	2155	c.2155delA	c.(2155-2157)aacfs	p.N719fs	MYH14_ENST00000440075.2_Frame_Shift_Del_p.N760fs|MYH14_ENST00000262269.8_Frame_Shift_Del_p.N760fs|MYH14_ENST00000598205.1_Frame_Shift_Del_p.N727fs|MYH14_ENST00000376970.2_Frame_Shift_Del_p.N752fs|MYH14_ENST00000601313.1_Frame_Shift_Del_p.N760fs|MYH14_ENST00000425460.1_Frame_Shift_Del_p.N727fs			Q7Z406	MYH14_HUMAN	myosin, heavy chain 14, non-muscle	719	Myosin motor.				actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|mitochondrion morphogenesis (GO:0070584)|neuronal action potential (GO:0019228)|regulation of cell shape (GO:0008360)|sensory perception of sound (GO:0007605)|skeletal muscle atrophy (GO:0014732)|skeletal muscle contraction (GO:0003009)|skeletal muscle tissue development (GO:0007519)|vocalization behavior (GO:0071625)	actomyosin (GO:0042641)|axon (GO:0030424)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|membrane (GO:0016020)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|stress fiber (GO:0001725)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	46		all_neural(266;0.0571)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195)		GCTTCGCTGCAACGGGGTCCT	0.711																																						ENST00000440075.2																			0				central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	46						c.(2278-2280)acfs		myosin, heavy chain 14, non-muscle							11	15	14					19																	50762446		2171	4262	6433	SO:0001589	frameshift_variant	79784				axon guidance|regulation of cell shape	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	g.chr19:50762446delA	AY165122	CCDS46151.1, CCDS54295.1, CCDS59411.1	19q13.33	2011-09-27	2009-11-19			ENSG00000105357		"Myosins / Myosin superfamily : Class II"	23212	protein-coding gene	gene with protein product		608568	"myosin, heavy polypeptide 14", "myosin, heavy chain 14"	DFNA4		12909352, 15015131, 17940200	Standard	NM_024729		Approved	FLJ13881, KIAA2034, MHC16, MYH17	uc010enu.1	Q7Z406		ENST00000596571.1:c.2155delA	19.37:g.50762446delA	ENSP00000472819:p.Asn719fs					MYH14_ENST00000376970.2_Frame_Shift_Del_p.N752fs|MYH14_ENST00000601313.1_Frame_Shift_Del_p.N760fs|MYH14_ENST00000598205.1_Frame_Shift_Del_p.N727fs|MYH14_ENST00000596571.1_Frame_Shift_Del_p.N719fs|MYH14_ENST00000425460.1_Frame_Shift_Del_p.N727fs|MYH14_ENST00000262269.8_Frame_Shift_Del_p.N760fs	p.N760fs			Q7Z406	MYH14_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195)	19	2325	+		all_neural(266;0.0571)|Ovarian(192;0.0728)	719			Myosin head-like.		B0I1S2|C3TTN4|Q5CZ75|Q6XYE4|Q76B62|Q8WV23|Q96I22|Q9BT27|Q9BW35|Q9H882	Frame_Shift_Del	DEL	ENST00000596571.1	37	c.2278delA	CCDS59411.1																																																																																				0.711	MYH14-008	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000464710.2	NM_024729		2	4						2	4	---	---	---	---	-	50762446	A	-	50762446	7	5	366	1	0	1	0	1	0	0	0	0	10033	130	5	0	2348	0	MYH14	19	50762446	Frame_Shift_Del	DEL	A	TCGA-TP-A8TT-01A-12D-A41K-08	33789192	50762446	8366537	29	18270											
ZNF841	284371	broad.mit.edu	37	chr19	52568806	52568806	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atgacgtgcgaggcctgagcGataacggaagaccttgccac	11	6	13	11	4	0	3	0	2	0	1	0	6	0	4	3	2	4	0	3	2	2	2			TCGA-TP-A8TT-01A-12D-A41K-08	TCGA-TP-A8TT-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8c79fa3-a242-4536-90de-33daeb65c445	34b3bfff-3049-4177-99a4-9ac6332a5ce9	g.chr19:52568806G>A	ENST00000426391.2	-	5	2532	c.1981C>T	c.(1981-1983)Cgc>Tgc	p.R661C	ZNF432_ENST00000598446.1_Intron|ZNF841_ENST00000594295.1_Missense_Mutation_p.R777C|CTC-471J1.2_ENST00000569091.1_RNA|ZNF841_ENST00000389534.4_Missense_Mutation_p.R777C|ZNF841_ENST00000359973.2_Missense_Mutation_p.R353C			Q6ZN19	ZN841_HUMAN	zinc finger protein 841	661					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(4)|kidney(3)|lung(3)	11						AGGCCTGAGCGATAACGGAAG	0.428																																						ENST00000389534.4																			0				breast(1)|endometrium(4)|kidney(3)|lung(3)	11						c.(2329-2331)Cgc>Tgc		zinc finger protein 841							49	45	46					19																	52568806		692	1591	2283	SO:0001583	missense	284371				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52568806G>A	AK131409	CCDS46161.1	19q13.41	2013-01-08			ENSG00000197608	ENSG00000197608		"Zinc fingers, C2H2-type", "-"	27611	protein-coding gene	gene with protein product							Standard	NM_001136499		Approved	LOC284371	uc010ydh.1	Q6ZN19		ENST00000426391.2:c.1981C>T	19.37:g.52568806G>A	ENSP00000415453:p.Arg661Cys					ZNF432_ENST00000598446.1_Intron|ZNF841_ENST00000359973.2_Missense_Mutation_p.R353C|ZNF841_ENST00000594295.1_Missense_Mutation_p.R777C|ZNF841_ENST00000426391.2_Missense_Mutation_p.R661C	p.R777C	NM_001136499.1	NP_001129971.1	Q6ZN19	ZN841_HUMAN			7	2788	-			661					B9EG58|Q6ZN82|Q6ZP71|Q8N9U7	Missense_Mutation	SNP	ENST00000426391.2	37	c.2329C>T		.	.	.	.	.	.	.	.	.	.	G	13.62	2.290071	0.40494	.	.	ENSG00000197608	ENST00000389534;ENST00000426391;ENST00000359973	T;T;T	0.16073	2.37;2.37;2.37	2.02	-2.69	0.06022	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.14657	0.0354	L	0.45422	1.42	0.09310	N	1	D;D;D	0.71674	0.998;0.989;0.994	P;P;B	0.49528	0.614;0.513;0.323	T	0.06698	-1.0812	9	0.41790	T	0.15	.	1.2992	0.02076	0.1673:0.1254:0.3729:0.3344	.	777;353;661	Q6ZN19-3;Q6ZN19-2;Q6ZN19	.;.;ZN841_HUMAN	C	777;661;353	ENSP00000374185:R777C;ENSP00000415453:R661C;ENSP00000353060:R353C	ENSP00000353060:R353C	R	-	1	0	ZNF841	57260618	0.000000	0.05858	0.000000	0.03702	0.407000	0.30961	-1.117000	0.03283	-1.000000	0.03438	0.313000	0.20887	CGC		0.428	ZNF841-001	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000462435.1	XM_209155		3	32	0	0	0	1	0	3	32					A	52568806	G	A	52568806	3	1	366	1	0	0	0	0	1	0	0	0	18186	1058	37	2	449	2	ZNF841	19	52568806	Missense_Mutation	SNP	G	TCGA-TP-A8TT-01A-12D-A41K-08	1806360	52568806	6560177	30	18271											
TCF20	6942	broad.mit.edu	37	chr22	42605932	42605932	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccgagggcctccaccacagtCttccgagcggtggcgccgct	5	6	13	17	5	1	0	0	0	1	0	3	2	3	0	6	3	1	1	6	3	0	1			TCGA-TP-A8TT-01A-12D-A41K-08	TCGA-TP-A8TT-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8c79fa3-a242-4536-90de-33daeb65c445	34b3bfff-3049-4177-99a4-9ac6332a5ce9	g.chr22:42605932C>T	ENST00000359486.3	-	1	5516	c.5380G>A	c.(5380-5382)Gac>Aac	p.D1794N	TCF20_ENST00000404876.1_Missense_Mutation_p.D95N|TCF20_ENST00000335626.4_Missense_Mutation_p.D1794N	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN	transcription factor 20 (AR1)	1794					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						CCACCACAGTCTTCCGAGCGG	0.607																																						ENST00000359486.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						c.(5380-5382)Gac>Aac		transcription factor 20 (AR1)							59	65	63					22																	42605932		2203	4300	6503	SO:0001583	missense	6942				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding	g.chr22:42605932C>T	U19345	CCDS14032.1, CCDS14033.1	22q13.3	2011-02-08			ENSG00000100207	ENSG00000100207			11631	protein-coding gene	gene with protein product	"stromelysin-1 platelet-derived growth factor-responsive element binding protein"	603107				9730594, 10995766	Standard	NM_005650		Approved	AR1, SPBP	uc003bcj.1	Q9UGU0	OTTHUMG00000150920	ENST00000359486.3:c.5380G>A	22.37:g.42605932C>T	ENSP00000352463:p.Asp1794Asn					TCF20_ENST00000335626.4_Missense_Mutation_p.D1794N|TCF20_ENST00000404876.1_Missense_Mutation_p.D95N	p.D1794N	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN			1	5516	-			1794					A9JX12|O14528|Q13078|Q4V353|Q9H4M0	Missense_Mutation	SNP	ENST00000359486.3	37	c.5380G>A	CCDS14033.1	.	.	.	.	.	.	.	.	.	.	C	16.35	3.099369	0.56183	.	.	ENSG00000100207	ENST00000359486;ENST00000335626;ENST00000404876	T;T;T	0.68624	0.22;0.22;-0.34	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	T	0.79627	0.4478	L	0.60455	1.87	0.58432	D	0.999999	D;D	0.76494	0.999;0.999	D;D	0.81914	0.995;0.99	T	0.71998	-0.4423	10	0.21014	T	0.42	-26.3829	20.6439	0.99570	0.0:1.0:0.0:0.0	.	1794;1794	Q9UGU0-2;Q9UGU0	.;TCF20_HUMAN	N	1794;1794;95	ENSP00000352463:D1794N;ENSP00000335561:D1794N;ENSP00000385531:D95N	ENSP00000335561:D1794N	D	-	1	0	TCF20	40935876	1.000000	0.71417	1.000000	0.80357	0.907000	0.53573	6.420000	0.73349	2.884000	0.98904	0.655000	0.94253	GAC		0.607	TCF20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320531.1	NM_181492		33	65	0	0	0	1	0	33	65					T	42605932	C	T	42605932	3	4	366	1	0	0	0	0	1	0	0	0	15687	913	32	3	540	3	TCF20	22	42605932	Missense_Mutation	SNP	C	TCGA-TP-A8TT-01A-12D-A41K-08		42605932	8698634	31	18272											
SLC16A2	6567	broad.mit.edu	37	chrX	73745591	73745591	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gctatgcttttcagatgaagTatgtggaggaggagttctca	10	13	13	5	0	2	2	2	1	1	1	3	5	2	5	0	3	1	4	0	3	3	5			TCGA-TP-A8TT-01A-12D-A41K-08	TCGA-TP-A8TT-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8c79fa3-a242-4536-90de-33daeb65c445	34b3bfff-3049-4177-99a4-9ac6332a5ce9	g.chrX:73745591T>C	ENST00000587091.1	+	4	1210	c.1033T>C	c.(1033-1035)Tat>Cat	p.Y345H	SLC16A2_ENST00000276033.5_Missense_Mutation_p.Y419H	NM_006517.4	NP_006508.2	P36021	MOT8_HUMAN	solute carrier family 16, member 2 (thyroid hormone transporter)	345					monocarboxylic acid transport (GO:0015718)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	monocarboxylic acid transmembrane transporter activity (GO:0008028)|symporter activity (GO:0015293)|transporter activity (GO:0005215)			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|skin(2)	21					L-Leucine(DB00149)|L-Tryptophan(DB00150)|L-Tyrosine(DB00135)|Levothyroxine(DB00451)|Liotrix(DB01583)|Pyruvic acid(DB00119)	TCAGATGAAGTATGTGGAGGA	0.507																																						ENST00000276033.5																			0				breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|skin(2)	21						c.(1255-1257)Tat>Cat		solute carrier family 16, member 2 (thyroid hormone transporter)	Pyruvic acid(DB00119)						175	146	156					X																	73745591		2203	4300	6503	SO:0001583	missense	6567					integral to plasma membrane|membrane fraction	monocarboxylic acid transmembrane transporter activity|symporter activity	g.chrX:73745591T>C		CCDS14426.1, CCDS14426.2	Xq13.2	2013-05-22	2012-03-20		ENSG00000147100	ENSG00000147100		"Solute carriers"	10923	protein-coding gene	gene with protein product		300095	"solute carrier family 16 (monocarboxylic acid transporters), member 2 (putative transporter)", "Allan-Herndon-Dudley syndrome", "solute carrier family 16 (monocarboxylic acid transporters), member 2", "mental retardation, X-linked 22", "solute carrier family 16, member 2 (monocarboxylic acid transporter 8)"	DXS128, AHDS, MRX22		7981683, 12871948, 15889350	Standard	NM_006517		Approved	XPCT, MCT8, MCT7	uc031tjy.1	P36021	OTTHUMG00000021857	ENST00000587091.1:c.1033T>C	X.37:g.73745591T>C	ENSP00000465734:p.Tyr345His					SLC16A2_ENST00000587091.1_Missense_Mutation_p.Y345H	p.Y419H			P36021	MOT8_HUMAN			4	1421	+			345					Q7Z797	Missense_Mutation	SNP	ENST00000587091.1	37	c.1255T>C	CCDS14426.2	.	.	.	.	.	.	.	.	.	.	T	1.029	-0.682493	0.03353	.	.	ENSG00000147100	ENST00000276033	T	0.66815	-0.23	4.9	4.9	0.64082	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.063718	0.64402	D	0.000006	T	0.54029	0.1833	L	0.33093	0.98	0.33918	D	0.640553	B	0.13594	0.008	B	0.16289	0.015	T	0.58707	-0.7589	10	0.17832	T	0.49	.	13.7488	0.62894	0.0:0.0:0.0:1.0	.	345	P36021	MOT8_HUMAN	H	419	ENSP00000276033:Y419H	ENSP00000276033:Y419H	Y	+	1	0	SLC16A2	73662316	1.000000	0.71417	1.000000	0.80357	0.316000	0.28119	3.693000	0.54735	1.620000	0.50308	0.486000	0.48141	TAT		0.507	SLC16A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057266.3			23	26	0	0	0	1	0	23	26					C	73745591	T	C	73745591	3	2	366	1	0	0	0	0	1	0	0	0	14408	1638	57	4	1269	4	SLC16A2	23	73745591	Missense_Mutation	SNP	T	TCGA-TP-A8TT-01A-12D-A41K-08		73745591	81524969	32	18273											
CHM	1121	broad.mit.edu	37	chrX	85213927	85213927	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatttttaaactctgcatatCgactaacattagatttgatt	13	18	4	6	1	1	2	0	1	1	1	2	3	1	2	0	0	3	1	0	0	6	9			TCGA-TP-A8TT-01A-12D-A41K-08	TCGA-TP-A8TT-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8c79fa3-a242-4536-90de-33daeb65c445	34b3bfff-3049-4177-99a4-9ac6332a5ce9	g.chrX:85213927C>A	ENST00000357749.2	-	6	787	c.758G>T	c.(757-759)cGa>cTa	p.R253L	CHM_ENST00000467744.2_Intron|CHM_ENST00000537751.1_Missense_Mutation_p.R105L	NM_000390.2	NP_000381.1	P24386	RAE1_HUMAN	choroideremia (Rab escort protein 1)	253					blood vessel development (GO:0001568)|protein geranylgeranylation (GO:0018344)|protein targeting to membrane (GO:0006612)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	cytosol (GO:0005829)|Rab-protein geranylgeranyltransferase complex (GO:0005968)	GTPase activator activity (GO:0005096)|Rab geranylgeranyltransferase activity (GO:0004663)|Rab GTPase binding (GO:0017137)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(12)|ovary(1)|prostate(1)	20		all_lung(315;5.41e-06)				CTCTGCATATCGACTAACATT	0.343																																						ENST00000357749.2																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(12)|ovary(1)|prostate(1)	20						c.(757-759)cGa>cTa		choroideremia (Rab escort protein 1)							74	68	70					X																	85213927		2203	4299	6502	SO:0001583	missense	1121				intracellular protein transport|protein geranylgeranylation|response to stimulus|visual perception	Rab-protein geranylgeranyltransferase complex	GTPase activator activity|Rab geranylgeranyltransferase activity	g.chrX:85213927C>A	X78121	CCDS14454.1, CCDS48139.1	Xq21.1-q21.3	2014-09-17			ENSG00000188419	ENSG00000188419			1940	protein-coding gene	gene with protein product		300390		TCD, DXS540		1373238	Standard	XM_006724615		Approved	REP-1	uc004eet.3	P24386	OTTHUMG00000021937	ENST00000357749.2:c.758G>T	X.37:g.85213927C>A	ENSP00000350386:p.Arg253Leu					CHM_ENST00000537751.1_Missense_Mutation_p.R105L|CHM_ENST00000467744.1_Intron	p.R253L	NM_000390.2	NP_000381.1	P24386	RAE1_HUMAN			6	787	-		all_lung(315;5.41e-06)	253					A1L4D2|O43732	Missense_Mutation	SNP	ENST00000357749.2	37	c.758G>T	CCDS14454.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.063471	0.76187	.	.	ENSG00000188419	ENST00000357749;ENST00000537751	D;D	0.88277	-2.36;-2.36	4.83	3.06	0.35304	.	0.131067	0.52532	D	0.000061	D	0.94598	0.8259	M	0.91354	3.2	0.58432	D	0.999995	D	0.65815	0.995	D	0.70016	0.967	D	0.93626	0.6952	10	0.87932	D	0	-16.5115	10.1654	0.42877	0.0:0.8331:0.0:0.1669	.	253	P24386	RAE1_HUMAN	L	253;105	ENSP00000350386:R253L;ENSP00000441728:R105L	ENSP00000350386:R253L	R	-	2	0	CHM	85100583	1.000000	0.71417	0.825000	0.32803	0.972000	0.66771	4.310000	0.59141	0.306000	0.22856	0.513000	0.50165	CGA		0.343	CHM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057396.3	NM_000390		17	10	1	0	5.3912e-06	1	6.05135e-06	17	10					A	85213927	C	A	85213927	3	1	366	1	0	0	0	0	1	0	0	0	3350	884	31	5	1243	5	CHM	23	85213927	Missense_Mutation	SNP	C	TCGA-TP-A8TT-01A-12D-A41K-08	11468336	85213927	70056633	33	18274											
COL4A6	1288	broad.mit.edu	37	chrX	107423790	107423790	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctggactccctggctctcCtttacttccacttgacccag	5	13	6	17	0	1	1	0	1	1	0	5	2	4	2	5	2	1	1	5	2	1	4			TCGA-TP-A8TT-01A-12D-A41K-08	TCGA-TP-A8TT-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8c79fa3-a242-4536-90de-33daeb65c445	34b3bfff-3049-4177-99a4-9ac6332a5ce9	g.chrX:107423790C>G	ENST00000372216.4	-	25	2189	c.2089G>C	c.(2089-2091)Gga>Cga	p.G697R	COL4A6_ENST00000538570.1_Missense_Mutation_p.G696R|COL4A6_ENST00000545689.1_Missense_Mutation_p.G696R|COL4A6_ENST00000334504.7_Missense_Mutation_p.G696R|COL4A6_ENST00000394872.2_Missense_Mutation_p.G697R	NM_001847.2	NP_001838.2	Q14031	CO4A6_HUMAN	collagen, type IV, alpha 6	697	Triple-helical region.				cell adhesion (GO:0007155)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	92						CCTGGCTCTCCTTTACTTCCA	0.517									Alport syndrome with Diffuse Leiomyomatosis																												Melanoma(87;1895 1945 2589 7165)	ENST00000334504.7																			0				breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	92						c.(2086-2088)Gga>Cga		collagen, type IV, alpha 6							64	50	55					X																	107423790		2203	4300	6503	SO:0001583	missense	1288	Alport syndrome with Diffuse Leiomyomatosis	Familial Cancer Database		cell adhesion|extracellular matrix organization	collagen type IV	extracellular matrix structural constituent|protein binding	g.chrX:107423790C>G	U04845	CCDS14541.1, CCDS14542.1, CCDS76008.1, CCDS76009.1, CCDS76010.1	Xq22	2014-09-17			ENSG00000197565	ENSG00000197565		"Collagens"	2208	protein-coding gene	gene with protein product		303631				8356449	Standard	NM_033641		Approved		uc004env.4	Q14031	OTTHUMG00000022179	ENST00000372216.4:c.2089G>C	X.37:g.107423790C>G	ENSP00000361290:p.Gly697Arg					COL4A6_ENST00000394872.2_Missense_Mutation_p.G697R|COL4A6_ENST00000545689.1_Missense_Mutation_p.G696R|COL4A6_ENST00000372216.4_Missense_Mutation_p.G697R|COL4A6_ENST00000538570.1_Missense_Mutation_p.G696R	p.G696R	NM_033641.2	NP_378667.1	Q14031	CO4A6_HUMAN			25	2319	-			697			Triple-helical region.		Q12823|Q14053|Q5JYH6|Q5JYH8|Q9NQM5|Q9NTX3|Q9UJ76|Q9UMG6|Q9Y4L4	Missense_Mutation	SNP	ENST00000372216.4	37	c.2086G>C	CCDS14541.1	.	.	.	.	.	.	.	.	.	.	C	13.13	2.143860	0.37825	.	.	ENSG00000197565	ENST00000372216;ENST00000334504;ENST00000394872;ENST00000541389;ENST00000545689;ENST00000538570	D;D;D;D;D	0.99353	-5.77;-5.77;-5.77;-5.77;-5.77	5.16	5.16	0.70880	.	0.000000	0.41500	D	0.000878	D	0.99658	0.9873	H	0.96662	3.86	0.53688	D	0.999974	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	D	0.97521	1.0073	10	0.87932	D	0	.	18.4186	0.90579	0.0:1.0:0.0:0.0	.	696;696;697;696	F5H851;F5H3Q5;Q14031;Q14031-2	.;.;CO4A6_HUMAN;.	R	697;696;697;696;696;696	ENSP00000361290:G697R;ENSP00000334733:G696R;ENSP00000378340:G697R;ENSP00000443707:G696R;ENSP00000445236:G696R	ENSP00000334733:G696R	G	-	1	0	COL4A6	107310446	1.000000	0.71417	0.981000	0.43875	0.030000	0.12068	5.001000	0.63946	2.485000	0.83878	0.513000	0.50165	GGA		0.517	COL4A6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057875.2			3	36	0	0	0	1	0	3	36					G	107423790	C	G	107423790	3	3	366	1	0	0	0	0	1	0	0	0	3695	690	24	5	3070	5	COL4A6	23	107423790	Missense_Mutation	SNP	C	TCGA-TP-A8TT-01A-12D-A41K-08	22209863	107423790	47846770	34	18275											
SYDE2	84144	broad.mit.edu	37	chr1	85648608	85648608	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gttcccagagggcagaatatCagtatgatgaacttctcggc	11	10	11	9	1	2	4	1	2	1	2	4	4	3	4	1	2	1	3	1	2	4	4			TCGA-TP-A8TV-01A-11D-A41K-08	TCGA-TP-A8TV-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5e215fa-ef1d-4663-badb-152039afcbad	b6d5714c-04e4-4c50-aa90-47f20ab06b71	g.chr1:85648608C>T	ENST00000341460.5	-	3	1766	c.1717G>A	c.(1717-1719)Gat>Aat	p.D573N		NM_032184.1	NP_115560.1	Q5VT97	SYDE2_HUMAN	synapse defective 1, Rho GTPase, homolog 2 (C. elegans)	573					activation of Rho GTPase activity (GO:0032862)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	Rho GTPase activator activity (GO:0005100)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)	20				all cancers(265;0.0126)|Epithelial(280;0.0336)		GGCAGAATATCAGTATGATGA	0.418																																						ENST00000341460.5																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)	20						c.(1717-1719)Gat>Aat		synapse defective 1, Rho GTPase, homolog 2 (C. elegans)							160	155	157					1																	85648608		1862	4100	5962	SO:0001583	missense	84144				activation of Rho GTPase activity|small GTPase mediated signal transduction	cytosol	Rho GTPase activator activity	g.chr1:85648608C>T	AL834286	CCDS44169.1	1p22.3	2008-02-05		2005-08-09	ENSG00000097096	ENSG00000097096			25841	protein-coding gene	gene with protein product							Standard	NM_032184		Approved	FLJ13815	uc009wcm.3	Q5VT97	OTTHUMG00000009956	ENST00000341460.5:c.1717G>A	1.37:g.85648608C>T	ENSP00000340594:p.Asp573Asn						p.D573N	NM_032184.1	NP_115560.1	Q5VT97	SYDE2_HUMAN		all cancers(265;0.0126)|Epithelial(280;0.0336)	3	1766	-			573					Q5VT96|Q8NDB8|Q9H8A6	Missense_Mutation	SNP	ENST00000341460.5	37	c.1717G>A	CCDS44169.1	.	.	.	.	.	.	.	.	.	.	C	11.29	1.596040	0.28445	.	.	ENSG00000097096	ENST00000341460	T	0.06687	3.27	5.41	4.49	0.54785	.	0.445168	0.23165	N	0.051186	T	0.01523	0.0049	N	0.08118	0	0.23624	N	0.997266	B;B	0.30236	0.18;0.274	B;B	0.28709	0.031;0.093	T	0.45011	-0.9290	10	0.14252	T	0.57	.	14.4003	0.67041	0.0:0.9277:0.0:0.0723	.	573;573	Q5VT97;Q5VT97-2	SYDE2_HUMAN;.	N	573	ENSP00000340594:D573N	ENSP00000340594:D573N	D	-	1	0	SYDE2	85421196	0.001000	0.12720	0.479000	0.27329	0.495000	0.33615	0.272000	0.18644	2.559000	0.86315	0.650000	0.86243	GAT		0.418	SYDE2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127989.2			38	74	0	0	0	1	0	38	74					T	85648608	C	T	85648608	3	4	367	1	0	0	0	0	1	0	0	0	15433	826	29	3	1887	3	SYDE2	1	85648608	Missense_Mutation	SNP	C	TCGA-TP-A8TV-01A-11D-A41K-08		85648608	163602013	1	18276											
RBM15	64783	broad.mit.edu	37	chr1	110883036	110883036	+	Frame_Shift_Del	DEL	G	G	-																															aaagagactacccgttctatGagagagtgcgccctgcatac																										TCGA-TP-A8TV-01A-11D-A41K-08	TCGA-TP-A8TV-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5e215fa-ef1d-4663-badb-152039afcbad	b6d5714c-04e4-4c50-aa90-47f20ab06b71	g.chr1:110883036delG	ENST00000369784.3	+	1	1909	c.1009delG	c.(1009-1011)gagfs	p.E337fs	RBM15_ENST00000487146.2_Frame_Shift_Del_p.E337fs|RBM15_ENST00000602849.1_Frame_Shift_Del_p.E337fs|RP5-1074L1.1_ENST00000449169.1_RNA	NM_022768.4	NP_073605.4	Q96T37	RBM15_HUMAN	RNA binding motif protein 15	337					negative regulation of myeloid cell differentiation (GO:0045638)|patterning of blood vessels (GO:0001569)|placenta blood vessel development (GO:0060674)|positive regulation of transcription of Notch receptor target (GO:0007221)|spleen development (GO:0048536)|ventricular septum morphogenesis (GO:0060412)|viral process (GO:0016032)	membrane (GO:0016020)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			ovary(3)	3		all_cancers(81;2.89e-06)|all_epithelial(167;2.96e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)|Breast(1374;0.0634)		BRCA - Breast invasive adenocarcinoma(282;0.000224)|Epithelial(280;0.000476)|Kidney(133;0.000539)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|all cancers(265;0.00144)|Lung(183;0.0238)|Colorectal(144;0.103)|LUSC - Lung squamous cell carcinoma(189;0.135)		CCCGTTCTATGAGAGAGTGCG	0.582			T	MKL1	acute megakaryocytic leukemia																																	ENST00000369784.3				Dom	yes		1	1p13	64783	T	RNA binding motif protein 15			L	MKL1		acute megakaryocytic leukemia		0				ovary(3)	3						c.(1009-1011)agfs		RNA binding motif protein 15							64	68	67					1																	110883036		2203	4300	6503	SO:0001589	frameshift_variant	64783				interspecies interaction between organisms	nucleus	nucleotide binding|protein binding|RNA binding	g.chr1:110883036delG	AF368063	CCDS822.1, CCDS59198.1	1p13	2013-02-12			ENSG00000162775	ENSG00000162775		"RNA binding motif (RRM) containing"	14959	protein-coding gene	gene with protein product	"one twenty-two"	606077				11431691, 11344311	Standard	NM_001201545		Approved	OTT, OTT1	uc001dzl.1	Q96T37	OTTHUMG00000011284	ENST00000369784.3:c.1009delG	1.37:g.110883036delG	ENSP00000358799:p.Glu337fs					RBM15_ENST00000602849.1_Frame_Shift_Del_p.E337fs|RBM15_ENST00000487146.2_Frame_Shift_Del_p.E337fs	p.E337fs	NM_022768.4	NP_073605.4	Q96T37	RBM15_HUMAN		BRCA - Breast invasive adenocarcinoma(282;0.000224)|Epithelial(280;0.000476)|Kidney(133;0.000539)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|all cancers(265;0.00144)|Lung(183;0.0238)|Colorectal(144;0.103)|LUSC - Lung squamous cell carcinoma(189;0.135)	1	1909	+		all_cancers(81;2.89e-06)|all_epithelial(167;2.96e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)|Breast(1374;0.0634)	337					A1A693|Q3ZB86|Q4V760|Q5D058|Q5T613|Q86VW9|Q96PE4|Q96SC5|Q96SC6|Q96SC9|Q96SD0|Q96T38|Q9BRA5|Q9H6R8|Q9H9Y0	Frame_Shift_Del	DEL	ENST00000369784.3	37	c.1009delG	CCDS822.1																																																																																				0.582	RBM15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000031114.2	NM_022768		13	61						13	61	---	---	---	---	-	110883036	G	-	110883036	7	5	367	1	0	1	0	1	0	0	0	0	13116	1291	45	0	1011	0	RBM15	1	110883036	Frame_Shift_Del	DEL	G	TCGA-TP-A8TV-01A-11D-A41K-08	25234428	110883036	138367585	2	18277											
IGFN1	91156	broad.mit.edu	37	chr1	201185718	201185718	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggagagacggcaggctggCaggagcacttggctgaaggt	9	6	19	7	1	0	2	0	1	0	1	0	5	0	4	0	7	1	5	0	7	1	1			TCGA-TP-A8TV-01A-11D-A41K-08	TCGA-TP-A8TV-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5e215fa-ef1d-4663-badb-152039afcbad	b6d5714c-04e4-4c50-aa90-47f20ab06b71	g.chr1:201185718C>T	ENST00000335211.4	+	16	9562	c.9432C>T	c.(9430-9432)ggC>ggT	p.G3144G	IGFN1_ENST00000295591.8_Silent_p.G304G	NM_001164586.1	NP_001158058.1	Q86VF2	IGFN1_HUMAN	immunoglobulin-like and fibronectin type III domain containing 1	687						nucleus (GO:0005634)|Z disc (GO:0030018)				autonomic_ganglia(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						GGCAGGCTGGCAGGAGCACTT	0.657																																						ENST00000335211.4																			0				autonomic_ganglia(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						c.(9430-9432)ggC>ggT		immunoglobulin-like and fibronectin type III domain containing 1							37	32	34					1																	201185718		2203	4300	6503	SO:0001819	synonymous_variant	91156							g.chr1:201185718C>T	AY245430	CCDS53455.1	1q32.1	2013-02-11			ENSG00000163395	ENSG00000163395		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	24607	protein-coding gene	gene with protein product							Standard	NM_001164586		Approved	DKFZp434B1231, EEF1A2BP1	uc001gwc.3	Q86VF2	OTTHUMG00000035728	ENST00000335211.4:c.9432C>T	1.37:g.201185718C>T						IGFN1_ENST00000295591.8_Silent_p.G304G	p.G3144G	NM_001164586.1	NP_001158058.1					16	9562	+								F8WAI1|Q9NT72	Silent	SNP	ENST00000335211.4	37	c.9432C>T	CCDS53455.1	.	.	.	.	.	.	.	.	.	.	C	9.184	1.024320	0.19433	.	.	ENSG00000163395	ENST00000412892	.	.	.	4.06	-0.584	0.11702	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.4987	0.04628	0.1535:0.5104:0.1414:0.1947	.	.	.	.	X	562	.	.	Q	+	1	0	IGFN1	199452341	0.958000	0.32768	0.981000	0.43875	0.133000	0.20885	0.389000	0.20751	0.018000	0.15052	0.561000	0.74099	CAG		0.657	IGFN1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_178275		5	19	0	0	0	1	0	5	19					T	201185718	C	T	201185718	2	4	367	1	0	0	0	0	0	0	0	1	7590	697	25	3		3	IGFN1	1	201185718	Silent	SNP	C	TCGA-TP-A8TV-01A-11D-A41K-08	90302682	201185718	48064903	3	18278											
CDC42EP3	10602	broad.mit.edu	37	chr2	37873475	37873475	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtccgaggtgctgttggcccGgaagaactcattatgcccag	8	9	13	11	2	1	1	1	0	0	1	2	3	2	2	3	3	3	2	3	3	3	2	rs373325096		TCGA-TP-A8TV-01A-11D-A41K-08	TCGA-TP-A8TV-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5e215fa-ef1d-4663-badb-152039afcbad	b6d5714c-04e4-4c50-aa90-47f20ab06b71	g.chr2:37873475G>A	ENST00000295324.3	-	2	1256	c.256C>T	c.(256-258)Cgg>Tgg	p.R86W	AC006369.2_ENST00000419425.1_RNA	NM_001270436.1|NM_001270437.1|NM_001270438.1|NM_006449.4	NP_001257365.1|NP_001257366.1|NP_001257367.1|NP_006440.2	Q9UKI2	BORG2_HUMAN	CDC42 effector protein (Rho GTPase binding) 3	86					regulation of cell shape (GO:0008360)|signal transduction (GO:0007165)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|membrane (GO:0016020)	cytoskeletal regulatory protein binding (GO:0005519)			endometrium(1)|large_intestine(3)|lung(5)|pancreas(1)|prostate(1)	11		all_hematologic(82;0.172)				CTGTTGGCCCGGAAGAACTCA	0.527																																						ENST00000295324.3																			0				endometrium(1)|large_intestine(3)|lung(5)|pancreas(1)|prostate(1)	11						c.(256-258)Cgg>Tgg		CDC42 effector protein (Rho GTPase binding) 3							104	108	106					2																	37873475		2203	4300	6503	SO:0001583	missense	10602				regulation of cell shape|signal transduction	actin cytoskeleton|cytoplasm|endomembrane system|membrane	cytoskeletal regulatory protein binding	g.chr2:37873475G>A	AF094521	CCDS1791.1	2p21	2008-05-21			ENSG00000163171	ENSG00000163171			16943	protein-coding gene	gene with protein product		606133				9535835, 11035016	Standard	NM_001270436		Approved	CEP3, UB1, BORG2	uc031rnz.1	Q9UKI2	OTTHUMG00000100971	ENST00000295324.3:c.256C>T	2.37:g.37873475G>A	ENSP00000295324:p.Arg86Trp					AC006369.2_ENST00000419425.1_RNA	p.R86W	NM_001270436.1|NM_001270437.1|NM_001270438.1|NM_006449.3	NP_001257365.1|NP_001257366.1|NP_001257367.1|NP_006440.2	Q9UKI2	BORG2_HUMAN			2	1256	-		all_hematologic(82;0.172)	86					B2R8S0|O95353|Q9UQJ0	Missense_Mutation	SNP	ENST00000295324.3	37	c.256C>T	CCDS1791.1	.	.	.	.	.	.	.	.	.	.	G	18.12	3.552303	0.65311	.	.	ENSG00000163171	ENST00000295324;ENST00000457889	T	0.36157	1.27	5.91	4.96	0.65561	.	0.000000	0.85682	D	0.000000	T	0.56717	0.2004	M	0.71581	2.175	0.51482	D	0.999929	D	0.89917	1.0	D	0.91635	0.999	T	0.58526	-0.7621	10	0.87932	D	0	.	10.8898	0.46990	0.0:0.0:0.6973:0.3027	.	86	Q9UKI2	BORG2_HUMAN	W	86	ENSP00000295324:R86W	ENSP00000295324:R86W	R	-	1	2	CDC42EP3	37726979	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	2.939000	0.48995	2.793000	0.96121	0.655000	0.94253	CGG		0.527	CDC42EP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218581.3	NM_006449		3	69	0	0	0	1	0	3	69					A	37873475	G	A	37873475	3	1	367	1	0	0	0	0	1	0	0	0	3077	1115	39	2	512	2	CDC42EP3	2	37873475	Missense_Mutation	SNP	G	TCGA-TP-A8TV-01A-11D-A41K-08		37873475	205325898	4	18279											
EPCAM	4072	broad.mit.edu	37	chr2	47606938	47606938	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatccttgtttcattctaagAaaatggacctgacagtaaat	15	13	6	7	0	2	2	1	1	1	1	3	3	3	3	2	1	0	2	2	1	6	5			TCGA-TP-A8TV-01A-11D-A41K-08	TCGA-TP-A8TV-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5e215fa-ef1d-4663-badb-152039afcbad	b6d5714c-04e4-4c50-aa90-47f20ab06b71	g.chr2:47606938A>C	ENST00000263735.4	+	7	1046	c.688A>C	c.(688-690)Aaa>Caa	p.K230Q	EPCAM_ENST00000405271.1_Missense_Mutation_p.K258Q|MIR559_ENST00000385188.1_RNA	NM_002354.2	NP_002345.2	P16422	EPCAM_HUMAN	epithelial cell adhesion molecule	230					negative regulation of cell-cell adhesion mediated by cadherin (GO:2000048)|positive regulation of cell proliferation (GO:0008284)|positive regulation of stem cell proliferation (GO:2000648)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|signal transduction involved in regulation of gene expression (GO:0023019)|stem cell differentiation (GO:0048863)|ureteric bud development (GO:0001657)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	protein complex binding (GO:0032403)	p.0?(2)|p.?(1)		endometrium(3)|large_intestine(1)|liver(2)|lung(7)|skin(1)|stomach(1)	15						TCATTCTAAGAAAATGGACCT	0.343																																						ENST00000263735.4																			3	Whole gene deletion(2)|Unknown(1)	p.0?(2)|p.?(1)	haematopoietic_and_lymphoid_tissue(3)	endometrium(3)|large_intestine(1)|liver(2)|lung(7)|skin(1)|stomach(1)	15						c.(688-690)Aaa>Caa		epithelial cell adhesion molecule							92	93	92					2																	47606938		2203	4300	6503	SO:0001583	missense	4072				positive regulation of cell proliferation	apical plasma membrane|basolateral plasma membrane|integral to membrane|lateral plasma membrane|tight junction	protein binding	g.chr2:47606938A>C	M33011	CCDS1833.1	2p21	2014-09-17	2008-12-16	2008-12-16	ENSG00000119888	ENSG00000119888		"CD molecules"	11529	protein-coding gene	gene with protein product		185535	"antigen identified by monoclonal antibody AUA1", "tumor-associated calcium signal transducer 1"	M4S1, MIC18, TACSTD1		8382772, 11306819	Standard	NM_002354		Approved	Ly74, TROP1, GA733-2, EGP34, EGP40, EGP-2, KSA, CD326, Ep-CAM, HEA125, KS1/4, MK-1, MH99, MOC31, 323/A3, 17-1A, TACST-1, CO-17A, ESA	uc002rvx.3	P16422	OTTHUMG00000128853	ENST00000263735.4:c.688A>C	2.37:g.47606938A>C	ENSP00000263735:p.Lys230Gln					EPCAM_ENST00000405271.1_Missense_Mutation_p.K258Q	p.K230Q	NM_002354.2	NP_002345.2	P16422	EPCAM_HUMAN			7	1046	+			230					P18180|Q6FG26|Q6FG49|Q96C47|Q9UCD0	Missense_Mutation	SNP	ENST00000263735.4	37	c.688A>C	CCDS1833.1	.	.	.	.	.	.	.	.	.	.	A	9.682	1.149550	0.21288	.	.	ENSG00000119888	ENST00000405271;ENST00000263735	T;T	0.73363	-0.74;-0.72	5.45	3.0	0.34707	.	0.611227	0.19654	N	0.109126	T	0.57577	0.2063	L	0.36672	1.1	0.09310	N	1	P;P	0.45902	0.779;0.868	B;B	0.36666	0.125;0.23	T	0.49476	-0.8936	10	0.34782	T	0.22	-1.0035	7.3608	0.26745	0.7501:0.1211:0.1288:0.0	.	230;258	P16422;B5MCA4	EPCAM_HUMAN;.	Q	258;230	ENSP00000385476:K258Q;ENSP00000263735:K230Q	ENSP00000263735:K230Q	K	+	1	0	EPCAM	47460442	0.000000	0.05858	0.001000	0.08648	0.683000	0.39861	1.171000	0.31896	0.886000	0.36113	-0.478000	0.04885	AAA		0.343	EPCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250792.2			26	35	0	0	0	1	0	26	35					C	47606938	A	C	47606938	3	2	367	1	0	0	0	0	1	0	0	0	5162	247	9	5	714	5	EPCAM	2	47606938	Missense_Mutation	SNP	A	TCGA-TP-A8TV-01A-11D-A41K-08	9733463	47606938	195592435	5	18280											
TSN	7247	broad.mit.edu	37	chr2	122520661	122520661	+	Splice_Site	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	taattcttgccagtgaactgGtaagctcagtaacttgctgg	10	13	10	8	0	2	1	1	1	1	0	2	1	2	1	1	2	5	4	1	2	4	6			TCGA-TP-A8TV-01A-11D-A41K-08	TCGA-TP-A8TV-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5e215fa-ef1d-4663-badb-152039afcbad	b6d5714c-04e4-4c50-aa90-47f20ab06b71	g.chr2:122520661G>C	ENST00000389682.3	+	5	700		c.e5+1		TSN_ENST00000409193.1_Splice_Site|TSN_ENST00000536142.1_Intron|TSN_ENST00000498545.1_Splice_Site	NM_001261401.1|NM_004622.2	NP_001248330.1|NP_004613.1	Q15631	TSN_HUMAN	translin						DNA recombination (GO:0006310)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|endonuclease activity (GO:0004519)|mRNA binding (GO:0003729)|sequence-specific DNA binding (GO:0043565)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|large_intestine(1)|liver(1)|lung(3)|skin(1)	12		Ovarian(717;0.0563)|Prostate(154;0.116)				CAGTGAACTGGTAAGCTCAGT	0.378																																						ENST00000389682.3																			0				NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|large_intestine(1)|liver(1)|lung(3)|skin(1)	12						c.e5+1		translin							81	81	81					2																	122520661		2203	4300	6503	SO:0001630	splice_region_variant	7247				DNA recombination	cytoplasm|nucleus	sequence-specific DNA binding	g.chr2:122520661G>C	X78627	CCDS33284.1, CCDS58723.1	2q21.1	2008-05-23			ENSG00000211460	ENSG00000211460			12379	protein-coding gene	gene with protein product	"recombination hotspot associated factor"	600575				7947454, 9244443	Standard	NM_004622		Approved	TRSLN, BCLF-1, REHF-1	uc002tnl.3	Q15631	OTTHUMG00000153334	ENST00000389682.3:c.453+1G>C	2.37:g.122520661G>C						TSN_ENST00000498545.1_Splice_Site|TSN_ENST00000409193.1_Splice_Site|TSN_ENST00000536142.1_Intron		NM_001261401.1|NM_004622.2	NP_001248330.1|NP_004613.1	Q15631	TSN_HUMAN			5	700	+		Ovarian(717;0.0563)|Prostate(154;0.116)						B7Z3X8|Q5U0K7	Splice_Site	SNP	ENST00000389682.3	37		CCDS33284.1	.	.	.	.	.	.	.	.	.	.	G	24.6	4.551793	0.86127	.	.	ENSG00000211460	ENST00000455432;ENST00000389682;ENST00000413418;ENST00000409193	.	.	.	5.59	5.59	0.84812	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.5843	0.91182	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	TSN	122237131	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	8.950000	0.93019	2.621000	0.88768	0.591000	0.81541	.		0.378	TSN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330767.1	NM_004622	Intron	6	23	0	0	0	1	0	6	23					C	122520661	G	C	122520661	5	2	367	1	0	0	0	0	0	0	1	0	16626	1275	44	5	472	5	TSN	2	122520661	Splice_Site	SNP	G	TCGA-TP-A8TV-01A-11D-A41K-08	74913723	122520661	120678712	6	18281											
ACVR1C	130399	broad.mit.edu	37	chr2	158397662	158397662	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	accaacagaatagatgtcagCtcgtttgaaggactcaaaga	16	8	9	8	1	2	4	2	1	0	3	3	5	2	5	1	1	2	2	1	1	5	2			TCGA-TP-A8TV-01A-11D-A41K-08	TCGA-TP-A8TV-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5e215fa-ef1d-4663-badb-152039afcbad	b6d5714c-04e4-4c50-aa90-47f20ab06b71	g.chr2:158397662C>T	ENST00000243349.8	-	7	1525	c.1165G>A	c.(1165-1167)Gct>Act	p.A389T	ACVR1C_ENST00000335450.7_Missense_Mutation_p.A309T|ACVR1C_ENST00000409680.3_Missense_Mutation_p.A339T|ACVR1C_ENST00000348328.5_Missense_Mutation_p.A232T	NM_001111032.1|NM_145259.2	NP_001104502.1|NP_660302.2			activin A receptor, type IC											NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	42						TAGATGTCAGCTCGTTTGAAG	0.388																																						ENST00000243349.7																			0				NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	42						c.(1165-1167)Gct>Act		activin A receptor, type IC							140	142	141					2																	158397662		2203	4300	6503	SO:0001583	missense	130399				apoptosis|cell differentiation|regulation of apoptosis	activin receptor complex	activin receptor activity, type I|ATP binding|transforming growth factor beta receptor activity	g.chr2:158397662C>T	BC022530	CCDS2205.1, CCDS46432.1, CCDS46433.1, CCDS46434.1	2q24.2	2008-02-05			ENSG00000123612	ENSG00000123612			18123	protein-coding gene	gene with protein product		608981					Standard	NM_145259		Approved	ALK7, ACVRLK7	uc002tzk.4	Q8NER5	OTTHUMG00000131964	ENST00000243349.8:c.1165G>A	2.37:g.158397662C>T	ENSP00000243349:p.Ala389Thr					ACVR1C_ENST00000335450.7_Missense_Mutation_p.A309T|ACVR1C_ENST00000348328.5_Missense_Mutation_p.A232T|ACVR1C_ENST00000409680.3_Missense_Mutation_p.A339T	p.A389T	NM_145259.2	NP_660302.2	Q8NER5	ACV1C_HUMAN			7	1525	-			389			Protein kinase.			Missense_Mutation	SNP	ENST00000243349.8	37	c.1165G>A	CCDS2205.1	.	.	.	.	.	.	.	.	.	.	C	25.8	4.675292	0.88445	.	.	ENSG00000123612	ENST00000243349;ENST00000409680;ENST00000348328;ENST00000335450	D;D;D;D	0.93659	-3.26;-3.26;-3.26;-3.26	5.3	4.37	0.52481	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.117523	0.37530	N	0.002058	D	0.95484	0.8533	M	0.66297	2.02	0.58432	D	0.999996	D;P;D	0.71674	0.998;0.903;0.997	D;B;D	0.67231	0.93;0.303;0.95	D	0.95453	0.8536	10	0.87932	D	0	.	13.4486	0.61155	0.2654:0.7346:0.0:0.0	.	232;309;389	Q8NER5-2;Q8NER5-3;Q8NER5	.;.;ACV1C_HUMAN	T	389;339;232;309	ENSP00000243349:A389T;ENSP00000387168:A339T;ENSP00000335139:A232T;ENSP00000335178:A309T	ENSP00000243349:A389T	A	-	1	0	ACVR1C	158105908	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	4.744000	0.62118	2.630000	0.89119	0.591000	0.81541	GCT		0.388	ACVR1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254924.2	NM_145259		12	65	0	0	0	1	0	12	65					T	158397662	C	T	158397662	3	4	367	1	0	0	0	0	1	0	0	0	222	797	28	3	328	3	ACVR1C	2	158397662	Missense_Mutation	SNP	C	TCGA-TP-A8TV-01A-11D-A41K-08	35877001	158397662	84801711	7	18282											
BBS5	129880	broad.mit.edu	37	chr2	170349443	170349443	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aagaagtgcactaattcagaAcaagcaactaagactgttgc	17	8	8	8	0	1	3	1	0	0	3	1	3	1	3	0	0	5	3	0	0	7	4			TCGA-TP-A8TV-01A-11D-A41K-08	TCGA-TP-A8TV-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5e215fa-ef1d-4663-badb-152039afcbad	b6d5714c-04e4-4c50-aa90-47f20ab06b71	g.chr2:170349443A>G	ENST00000295240.3	+	6	822	c.446A>G	c.(445-447)aAc>aGc	p.N149S	RP11-724O16.1_ENST00000513963.1_Missense_Mutation_p.N149S|BBS5_ENST00000392663.2_Missense_Mutation_p.N149S|BBS5_ENST00000554017.1_Missense_Mutation_p.N149S	NM_152384.2	NP_689597.1	Q8N3I7	BBS5_HUMAN	Bardet-Biedl syndrome 5	149					cilium assembly (GO:0042384)|heart looping (GO:0001947)|melanosome transport (GO:0032402)|motile cilium assembly (GO:0044458)|protein transport (GO:0015031)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	BBSome (GO:0034464)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	phosphatidylinositol-3-phosphate binding (GO:0032266)|RNA polymerase II repressing transcription factor binding (GO:0001103)			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9						CTAATTCAGAACAAGCAACTA	0.313									Bardet-Biedl syndrome																													ENST00000295240.3																			0				endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9						c.(445-447)aAc>aGc		Bardet-Biedl syndrome 5							92	90	91					2																	170349443		2203	4298	6501	SO:0001583	missense	129880	Bardet-Biedl syndrome	Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome				g.chr2:170349443A>G	AY604003	CCDS2233.1	2q31	2011-08-02			ENSG00000163093	ENSG00000163093			970	protein-coding gene	gene with protein product		603650				9888993, 10053027	Standard	NM_152384		Approved	DKFZp762I194		Q8N3I7	OTTHUMG00000132207	ENST00000295240.3:c.446A>G	2.37:g.170349443A>G	ENSP00000295240:p.Asn149Ser					BBS5_ENST00000554017.1_Missense_Mutation_p.N149S|RP11-724O16.1_ENST00000513963.1_Missense_Mutation_p.N149S|BBS5_ENST00000392663.2_Missense_Mutation_p.N149S	p.N149S	NM_152384.2	NP_689597.1					6	822	+								D3DPC3|Q6PKN0	Missense_Mutation	SNP	ENST00000295240.3	37	c.446A>G	CCDS2233.1	.	.	.	.	.	.	.	.	.	.	A	21.5	4.157685	0.78114	.	.	ENSG00000163093;ENSG00000163093;ENSG00000163093;ENSG00000251569	ENST00000295240;ENST00000554017;ENST00000392663;ENST00000513963	T;T;T;T	0.74002	1.4;1.4;-0.8;1.4	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	T	0.77711	0.4171	L	0.45698	1.435	0.80722	D	1	P;B;B	0.50066	0.931;0.29;0.124	P;B;B	0.54270	0.747;0.082;0.133	T	0.74355	-0.3692	10	0.24483	T	0.36	-14.9331	16.099	0.81152	1.0:0.0:0.0:0.0	.	149;149;149	E9PBE3;Q8N3I7-2;Q8N3I7	.;.;BBS5_HUMAN	S	149	ENSP00000295240:N149S;ENSP00000452313:N149S;ENSP00000376431:N149S;ENSP00000424363:N149S	ENSP00000295240:N149S	N	+	2	0	BBS5;RP11-724O16.1	170057689	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.201000	0.95017	2.210000	0.71456	0.482000	0.46254	AAC		0.313	BBS5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000255265.2	NM_152384		5	30	0	0	0	1	0	5	30					G	170349443	A	G	170349443	3	3	367	1	0	0	0	0	1	0	0	0	1340	43	2	4	468	4	BBS5	2	170349443	Missense_Mutation	SNP	A	TCGA-TP-A8TV-01A-11D-A41K-08	11951781	170349443	72849930	8	18283											
PLXNB1	5364	broad.mit.edu	37	chr3	48452351	48452351	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gctggtccagcatcttctccTttgcctgggagatggtgtca	5	13	12	11	0	3	1	1	0	2	1	5	2	4	1	3	3	2	2	3	3	0	2			TCGA-TP-A8TV-01A-11D-A41K-08	TCGA-TP-A8TV-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5e215fa-ef1d-4663-badb-152039afcbad	b6d5714c-04e4-4c50-aa90-47f20ab06b71	g.chr3:48452351T>G	ENST00000358536.4	-	29	5611	c.5342A>C	c.(5341-5343)aAg>aCg	p.K1781T	PLXNB1_ENST00000296440.6_Missense_Mutation_p.K1781T|PLXNB1_ENST00000358459.4_Missense_Mutation_p.K1598T|PLXNB1_ENST00000448774.2_Missense_Mutation_p.K392T|PLXNB1_ENST00000456774.1_Missense_Mutation_p.K1598T|PLXNB1_ENST00000465117.1_5'Flank	NM_002673.4	NP_002664.2	O43157	PLXB1_HUMAN	plexin B1	1781					axon guidance (GO:0007411)|cell migration (GO:0016477)|intracellular signal transduction (GO:0035556)|negative regulation of cell adhesion (GO:0007162)|negative regulation of osteoblast proliferation (GO:0033689)|neuron projection morphogenesis (GO:0048812)|ossification involved in bone maturation (GO:0043931)|positive regulation of axonogenesis (GO:0050772)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell shape (GO:0008360)|regulation of cytoskeleton organization (GO:0051493)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in bone trabecula morphogenesis (GO:1900220)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	GTPase activating protein binding (GO:0032794)|receptor activity (GO:0004872)|semaphorin receptor activity (GO:0017154)|semaphorin receptor binding (GO:0030215)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		CATCTTCTCCTTTGCCTGGGA	0.612																																						ENST00000358536.4																			0				NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47						c.(5341-5343)aAg>aCg		plexin B1							73	64	67					3																	48452351		2203	4300	6503	SO:0001583	missense	5364				axon guidance|cell migration|intracellular signal transduction|regulation of cell shape|regulation of cytoskeleton organization|regulation of small GTPase mediated signal transduction|semaphorin-plexin signaling pathway	extracellular region|integral to plasma membrane|intracellular|semaphorin receptor complex	GTPase activator activity|semaphorin receptor activity|semaphorin receptor binding	g.chr3:48452351T>G	X87904	CCDS2765.1	3p21.31	2008-07-18			ENSG00000164050	ENSG00000164050		"Plexins"	9103	protein-coding gene	gene with protein product		601053		PLXN5		8570614, 11035813	Standard	XM_005265234		Approved	SEP, KIAA0407	uc003csw.2	O43157	OTTHUMG00000133527	ENST00000358536.4:c.5342A>C	3.37:g.48452351T>G	ENSP00000351338:p.Lys1781Thr					PLXNB1_ENST00000296440.6_Missense_Mutation_p.K1781T|PLXNB1_ENST00000358459.4_Missense_Mutation_p.K1598T|PLXNB1_ENST00000456774.1_Missense_Mutation_p.K1598T|PLXNB1_ENST00000448774.2_Missense_Mutation_p.K392T	p.K1781T	NM_002673.4	NP_002664.2	O43157	PLXB1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)	29	5611	-			1781					A6H8Y2|Q6NY20|Q9UIV7|Q9UJ92|Q9UJ93	Missense_Mutation	SNP	ENST00000358536.4	37	c.5342A>C	CCDS2765.1	.	.	.	.	.	.	.	.	.	.	T	27.9	4.873180	0.91664	.	.	ENSG00000164050	ENST00000296440;ENST00000358459;ENST00000358536;ENST00000448774;ENST00000456774	T;T;T;T;T	0.23950	1.88;1.88;1.88;1.88;1.88	4.97	4.97	0.65823	Plexin, cytoplasmic RasGAP domain (1);Rho GTPase activation protein (1);	0.000000	0.85682	D	0.000000	T	0.58004	0.2092	M	0.90814	3.15	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.67983	-0.5529	10	0.87932	D	0	.	13.838	0.63421	0.0:0.0:0.0:1.0	.	1781;1598	O43157;O43157-2	PLXB1_HUMAN;.	T	1781;1598;1781;392;1598	ENSP00000296440:K1781T;ENSP00000351242:K1598T;ENSP00000351338:K1781T;ENSP00000389320:K392T;ENSP00000414199:K1598T	ENSP00000296440:K1781T	K	-	2	0	PLXNB1	48427355	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.981000	0.88123	1.851000	0.53745	0.533000	0.62120	AAG		0.612	PLXNB1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344454.1	NM_002673		10	8	0	0	0	1	0	10	8					G	48452351	T	G	48452351	3	3	367	1	0	0	0	0	1	0	0	0	12123	1609	56	5	1105	5	PLXNB1	3	48452351	Missense_Mutation	SNP	T	TCGA-TP-A8TV-01A-11D-A41K-08		48452351	149570079	9	18284											
ITIH3	3699	broad.mit.edu	37	chr3	52840313	52840313	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctaatgtgtcaccagtggaCggggatccccacttcatcat	9	11	9	12	1	4	0	3	0	1	0	5	2	5	2	3	3	0	0	3	3	1	2	rs201509967		TCGA-TP-A8TV-01A-11D-A41K-08	TCGA-TP-A8TV-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5e215fa-ef1d-4663-badb-152039afcbad	b6d5714c-04e4-4c50-aa90-47f20ab06b71	g.chr3:52840313C>T	ENST00000449956.2	+	18	1953	c.1947C>T	c.(1945-1947)gaC>gaT	p.D649D	ITIH3_ENST00000416872.2_Intron	NM_002217.3	NP_002208.3	Q06033	ITIH3_HUMAN	inter-alpha-trypsin inhibitor heavy chain 3	649					hyaluronan metabolic process (GO:0030212)|negative regulation of endopeptidase activity (GO:0010951)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(6)|ovary(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	25				BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496)		CACCAGTGGACGGGGATCCCC	0.582																																						ENST00000449956.2																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(6)|ovary(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	25						c.(1945-1947)gaC>gaT		inter-alpha-trypsin inhibitor heavy chain 3							47	49	48					3																	52840313		2044	4188	6232	SO:0001819	synonymous_variant	3699				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	g.chr3:52840313C>T		CCDS46845.1	3p21.1	2011-10-26	2011-10-26		ENSG00000162267	ENSG00000162267			6168	protein-coding gene	gene with protein product	"pre-alpha (globulin) inhibitor, H3 polypeptide", "inter-alpha-trypsin inhibitor heavy chain H3"	146650	"inter-alpha (globulin) inhibitor, H3 polypeptide", "inter-alpha (globulin) inhibitor H3"			2465147, 10100603	Standard	NM_002217		Approved	H3P	uc003dfv.2	Q06033	OTTHUMG00000158956	ENST00000449956.2:c.1947C>T	3.37:g.52840313C>T						ITIH3_ENST00000416872.2_Intron	p.D649D	NM_002217.3	NP_002208.3	Q06033	ITIH3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496)	18	1953	+			649					Q3B7H5|Q53F06|Q6LAM2|Q99085	Silent	SNP	ENST00000449956.2	37	c.1947C>T	CCDS46845.1	.	.	.	.	.	.	.	.	.	.	C	2.576	-0.298471	0.05532	.	.	ENSG00000162267	ENST00000398670;ENST00000536431	.	.	.	5.48	-4.01	0.04045	.	.	.	.	.	T	0.69878	0.3160	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.74780	-0.3549	5	0.66056	D	0.02	-26.1627	14.6686	0.68926	0.0:0.5992:0.0:0.4008	.	.	.	.	W	650;638	.	ENSP00000381662:R650W	R	+	1	2	ITIH3	52815353	0.041000	0.20044	0.972000	0.41901	0.326000	0.28443	-1.083000	0.03397	-0.675000	0.05246	-0.415000	0.06103	CGG		0.582	ITIH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352668.2	NM_002217		5	32	0	0	0	1	0	5	32					T	52840313	C	T	52840313	2	4	367	1	0	0	0	0	0	0	0	1	7905	535	19	1		1	ITIH3	3	52840313	Silent	SNP	C	TCGA-TP-A8TV-01A-11D-A41K-08	4387962	52840313	145182117	10	18285											
MECOM	2122	broad.mit.edu	37	chr3	168802820	168802820	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttgtcagacagtgacagcatCatagcatatgcctggggtaa	12	10	11	8	0	2	2	2	1	0	1	2	2	2	2	1	2	3	3	1	2	3	4			TCGA-TP-A8TV-01A-11D-A41K-08	TCGA-TP-A8TV-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5e215fa-ef1d-4663-badb-152039afcbad	b6d5714c-04e4-4c50-aa90-47f20ab06b71	g.chr3:168802820C>T	ENST00000464456.1	-	15	4206	c.3006G>A	c.(3004-3006)atG>atA	p.M1002I	MECOM_ENST00000468789.1_Missense_Mutation_p.M1011I|MECOM_ENST00000494292.1_Missense_Mutation_p.M1190I|MECOM_ENST00000472280.1_Missense_Mutation_p.M1012I|MECOM_ENST00000460814.1_3'UTR|MECOM_ENST00000392736.3_Missense_Mutation_p.M1011I|MECOM_ENST00000433243.2_Missense_Mutation_p.M1012I|MECOM_ENST00000264674.3_Missense_Mutation_p.M1076I	NM_001164000.1	NP_001157472.1	Q13465	MDS1_HUMAN	MDS1 and EVI1 complex locus	0					regulation of transcription, DNA-templated (GO:0006355)		sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						GTGACAGCATCATAGCATATG	0.453																																						ENST00000464456.1																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						c.(3004-3006)atG>atA		MDS1 and EVI1 complex locus							146	126	133					3																	168802820		2203	4300	6503	SO:0001583	missense	2122						sequence-specific DNA binding transcription factor activity	g.chr3:168802820C>T	S82592, AF164154	CCDS3205.1, CCDS54669.1, CCDS54670.1	3q26.2	2013-01-08	2009-08-07	2009-08-07	ENSG00000085276	ENSG00000085276		"Zinc fingers, C2H2-type"	3498	protein-coding gene	gene with protein product		165215	"myelodysplasia syndrome 1", "ecotropic viral integration site 1"	MDS1, EVI1		2115646, 8171026, 8643684	Standard	NM_001105077		Approved	MDS1-EVI1, PRDM3	uc011bpj.1	Q03112	OTTHUMG00000158596	ENST00000464456.1:c.3006G>A	3.37:g.168802820C>T	ENSP00000419770:p.Met1002Ile					MECOM_ENST00000460814.1_3'UTR|MECOM_ENST00000433243.2_Missense_Mutation_p.M1012I|MECOM_ENST00000392736.3_Missense_Mutation_p.M1011I|MECOM_ENST00000264674.3_Missense_Mutation_p.M1076I|MECOM_ENST00000472280.1_Missense_Mutation_p.M1012I|MECOM_ENST00000468789.1_Missense_Mutation_p.M1011I|MECOM_ENST00000494292.1_Missense_Mutation_p.M1190I	p.M1002I	NM_001164000.1	NP_001157472.1	Q13465	MDS1_HUMAN			15	4206	-			0					Q13466|Q6FH90	Missense_Mutation	SNP	ENST00000464456.1	37	c.3006G>A	CCDS54669.1	.	.	.	.	.	.	.	.	.	.	C	17.18	3.322639	0.60634	.	.	ENSG00000085276	ENST00000264674;ENST00000392736;ENST00000464456;ENST00000472280;ENST00000494292;ENST00000468789;ENST00000433243	T;T;T;T;T;T;T	0.08807	3.11;3.09;3.05;3.19;3.06;3.09;3.19	5.79	5.79	0.91817	.	0.000000	0.85682	D	0.000000	T	0.27313	0.0670	L	0.57536	1.79	0.80722	D	1	D;D;D;D	0.58268	0.982;0.982;0.982;0.969	D;D;D;D	0.68943	0.961;0.961;0.961;0.914	T	0.00036	-1.2253	10	0.44086	T	0.13	-14.9983	20.0368	0.97565	0.0:1.0:0.0:0.0	.	1199;1003;1076;1011	Q03112-3;Q03112-6;Q03112-4;Q03112	.;.;.;EVI1_HUMAN	I	1076;1011;1002;1012;1190;1011;1012	ENSP00000264674:M1076I;ENSP00000376493:M1011I;ENSP00000419770:M1002I;ENSP00000420048:M1012I;ENSP00000417899:M1190I;ENSP00000419995:M1011I;ENSP00000394302:M1012I	ENSP00000264674:M1076I	M	-	3	0	MECOM	170285514	1.000000	0.71417	1.000000	0.80357	0.716000	0.41182	7.141000	0.77330	2.735000	0.93741	0.563000	0.77884	ATG		0.453	MECOM-020	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000351519.1	NM_005241, NM_004991		20	40	0	0	0	1	0	20	40					T	168802820	C	T	168802820	3	4	367	1	0	0	0	0	1	0	0	0	9422	826	29	3	126	3	MECOM	3	168802820	Missense_Mutation	SNP	C	TCGA-TP-A8TV-01A-11D-A41K-08	115962507	168802820	29219610	11	18286											
QRFPR	84109	broad.mit.edu	37	chr4	122250475	122250475	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	agatattgttataattaatgCccactgtctaaaggagaatt	15	14	7	5	0	1	2	0	0	1	2	1	3	1	2	1	1	1	1	1	1	7	7			TCGA-TP-A8TV-01A-11D-A41K-08	TCGA-TP-A8TV-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5e215fa-ef1d-4663-badb-152039afcbad	b6d5714c-04e4-4c50-aa90-47f20ab06b71	g.chr4:122250475C>T	ENST00000394427.2	-	6	1701	c.1290G>A	c.(1288-1290)ggG>ggA	p.G430G	QRFPR_ENST00000334383.5_3'UTR|Y_RNA_ENST00000384419.1_RNA	NM_198179.2	NP_937822.2	Q96P65	QRFPR_HUMAN	pyroglutamylated RFamide peptide receptor	430					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|neuropeptide Y receptor activity (GO:0004983)			endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|prostate(2)|skin(3)|stomach(1)	28						ATAATTAATGCCCACTGTCTA	0.343																																						ENST00000394427.2																			0				endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|prostate(2)|skin(3)|stomach(1)	28						c.(1288-1290)ggG>ggA		pyroglutamylated RFamide peptide receptor							83	80	81					4																	122250475		2203	4300	6503	SO:0001819	synonymous_variant	84109					plasma membrane	neuropeptide Y receptor activity	g.chr4:122250475C>T	AF411117	CCDS3719.1	4q27	2012-08-10	2008-12-18	2008-12-18	ENSG00000186867	ENSG00000186867		"GPCR / Class A : RF amide peptide receptors"	15565	protein-coding gene	gene with protein product		606925	"G protein-coupled receptor 103"	GPR103		11574155	Standard	NM_198179		Approved		uc010inj.1	Q96P65	OTTHUMG00000133036	ENST00000394427.2:c.1290G>A	4.37:g.122250475C>T						QRFPR_ENST00000334383.5_3'UTR	p.G430G	NM_198179.2	NP_937822.2	Q96P65	QRFPR_HUMAN			6	1701	-			430						Silent	SNP	ENST00000394427.2	37	c.1290G>A	CCDS3719.1																																																																																				0.343	QRFPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256641.2	NM_198179		13	36	0	0	0	1	0	13	36					T	122250475	C	T	122250475	2	4	367	1	0	0	0	0	0	0	0	1	12878	726	26	3		3	QRFPR	4	122250475	Silent	SNP	C	TCGA-TP-A8TV-01A-11D-A41K-08		122250475	68903801	12	18287											
RAB3C	115827	broad.mit.edu	37	chr5	57913607	57913607	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttccgttatgcagatgactcCtttacatctgcattcgtcag	8	15	7	11	2	2	2	1	1	1	1	5	2	4	2	2	0	3	3	2	0	2	5			TCGA-TP-A8TV-01A-11D-A41K-08	TCGA-TP-A8TV-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5e215fa-ef1d-4663-badb-152039afcbad	b6d5714c-04e4-4c50-aa90-47f20ab06b71	g.chr5:57913607C>T	ENST00000282878.4	+	2	331	c.162C>T	c.(160-162)tcC>tcT	p.S54S		NM_138453.2	NP_612462.1	Q96E17	RAB3C_HUMAN	RAB3C, member RAS oncogene family	54					antigen processing and presentation (GO:0019882)|GTP catabolic process (GO:0006184)|protein transport (GO:0015031)|regulation of exocytosis (GO:0017157)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)|vesicle (GO:0031982)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|myosin V binding (GO:0031489)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(6)|ovary(1)	21		all_cancers(5;9.93e-10)|all_epithelial(5;1.49e-10)|all_lung(5;8.97e-05)|Lung NSC(5;0.000139)|Prostate(74;0.0664)		OV - Ovarian serous cystadenocarcinoma(10;1.8e-34)		CAGATGACTCCTTTACATCTG	0.383																																						ENST00000282878.4																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(6)|ovary(1)	21						c.(160-162)tcC>tcT		RAB3C, member RAS oncogene family							80	72	75					5																	57913607		2203	4299	6502	SO:0001819	synonymous_variant	115827				protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding	g.chr5:57913607C>T	AY026936	CCDS3976.1	5q13	2008-02-05			ENSG00000152932	ENSG00000152932		"RAB, member RAS oncogene"	30269	protein-coding gene	gene with protein product		612829				12296628	Standard	NM_138453		Approved		uc003jrp.3	Q96E17	OTTHUMG00000097053	ENST00000282878.4:c.162C>T	5.37:g.57913607C>T							p.S54S	NM_138453.2	NP_612462.1	Q96E17	RAB3C_HUMAN		OV - Ovarian serous cystadenocarcinoma(10;1.8e-34)	2	331	+		all_cancers(5;9.93e-10)|all_epithelial(5;1.49e-10)|all_lung(5;8.97e-05)|Lung NSC(5;0.000139)|Prostate(74;0.0664)	54						Silent	SNP	ENST00000282878.4	37	c.162C>T	CCDS3976.1																																																																																				0.383	RAB3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214156.2	NM_138453		6	18	0	0	0	1	0	6	18					T	57913607	C	T	57913607	2	4	367	1	0	0	0	0	0	0	0	1	12933	668	24	3		3	RAB3C	5	57913607	Silent	SNP	C	TCGA-TP-A8TV-01A-11D-A41K-08		57913607	123001653	13	18288											
RAPGEF6	51735	broad.mit.edu	37	chr5	130766835	130766835	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gcaatggggtcatccaaatgGgtatgtctgtaagagttcaa	12	11	12	6	0	3	1	2	0	1	1	4	1	4	1	1	3	0	4	1	3	5	3			TCGA-TP-A8TV-01A-11D-A41K-08	TCGA-TP-A8TV-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5e215fa-ef1d-4663-badb-152039afcbad	b6d5714c-04e4-4c50-aa90-47f20ab06b71	g.chr5:130766835G>T	ENST00000509018.1	-	26	4387	c.4182C>A	c.(4180-4182)acC>acA	p.T1394T	CTC-432M15.3_ENST00000514667.1_Silent_p.T1444T|RAPGEF6_ENST00000296859.6_Silent_p.T1402T|RAPGEF6_ENST00000307984.5_Silent_p.T1407T|RAPGEF6_ENST00000507093.1_Silent_p.T1402T	NM_001164386.1|NM_016340.5	NP_001157858.1|NP_057424.3	Q8TEU7	RPGF6_HUMAN	Rap guanine nucleotide exchange factor (GEF) 6	1394	Ser-rich.				positive regulation of GTPase activity (GO:0043547)|Ras protein signal transduction (GO:0007265)|regulation of GTPase activity (GO:0043087)|regulation of small GTPase mediated signal transduction (GO:0051056)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	GTP-dependent protein binding (GO:0030742)|guanyl-nucleotide exchange factor activity (GO:0005085)|Ras GTPase binding (GO:0017016)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|skin(1)|stomach(1)	31			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0721)		CATCCAAATGGGTATGTCTGT	0.468																																					Melanoma(168;435 1955 13113 13877 23213)	ENST00000509018.1																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|skin(1)|stomach(1)	31						c.(4180-4182)acC>acA		Rap guanine nucleotide exchange factor (GEF) 6							127	129	129					5																	130766835		2203	4300	6503	SO:0001819	synonymous_variant	51735				Ras protein signal transduction|regulation of GTPase activity|regulation of small GTPase mediated signal transduction	cytoplasm|plasma membrane	GTP-dependent protein binding|guanyl-nucleotide exchange factor activity|Ras GTPase binding	g.chr5:130766835G>T	AF117947	CCDS34225.1, CCDS54897.1, CCDS54898.1, CCDS54899.1, CCDS54900.1	5q31.1	2008-02-05	2004-03-01	2004-03-02	ENSG00000158987	ENSG00000158987			20655	protein-coding gene	gene with protein product		610499	"PDZ domain containing guanine nucleotide exchange factor (GEF) 2"	PDZGEF2		11524421, 12095257	Standard	NM_016340		Approved	RA-GEF-2, PDZ-GEF2	uc010jdi.2	Q8TEU7	OTTHUMG00000162683	ENST00000509018.1:c.4182C>A	5.37:g.130766835G>T						RAPGEF6_ENST00000307984.5_Silent_p.T1407T|RAPGEF6_ENST00000296859.6_Silent_p.T1402T|RAPGEF6_ENST00000507093.1_Silent_p.T1402T|FNIP1_ENST00000514667.1_Silent_p.T1444T	p.T1394T	NM_001164386.1|NM_016340.5	NP_001157858.1|NP_057424.3	Q8TEU7	RPGF6_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0721)	26	4387	-			1394			Ser-rich.		A3KN82|A5PLL6|B7ZML2|E9PDV7|Q8NI21|Q8TEU6|Q96PC1	Silent	SNP	ENST00000509018.1	37	c.4182C>A	CCDS34225.1																																																																																				0.468	RAPGEF6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000370059.1	NM_016340		7	63	1	0	8.12818e-05	1	8.7632e-05	7	63					T	130766835	G	T	130766835	2	4	367	1	0	0	0	0	0	0	0	1	13048	1219	43	5		5	RAPGEF6	5	130766835	Silent	SNP	G	TCGA-TP-A8TV-01A-11D-A41K-08	72853228	130766835	50148425	14	18289											
HARS	3035	broad.mit.edu	37	chr5	140054664	140054664	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcctctagcagcttcttctGtgcagatgccacaagcacct	8	12	7	14	0	3	1	0	0	3	1	4	1	4	1	3	0	5	4	3	0	2	4			TCGA-TP-A8TV-01A-11D-A41K-08	TCGA-TP-A8TV-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5e215fa-ef1d-4663-badb-152039afcbad	b6d5714c-04e4-4c50-aa90-47f20ab06b71	g.chr5:140054664G>C	ENST00000504156.1	-	11	1968	c.1249C>G	c.(1249-1251)Cag>Gag	p.Q417E	HARS_ENST00000307633.3_Missense_Mutation_p.Q357E|HARS_ENST00000438307.2_Missense_Mutation_p.Q377E|HARS_ENST00000457527.2_Missense_Mutation_p.Q397E|HARS_ENST00000448240.1_Missense_Mutation_p.Q222E|HARS_ENST00000431330.2_Missense_Mutation_p.Q303E|HARS_ENST00000504366.1_Missense_Mutation_p.Q348E|DND1_ENST00000542735.1_5'Flank|HARS_ENST00000415192.2_Missense_Mutation_p.Q343E	NM_002109.4	NP_002100.2	P12081	SYHC_HUMAN	histidyl-tRNA synthetase	417					gene expression (GO:0010467)|histidyl-tRNA aminoacylation (GO:0006427)|translation (GO:0006412)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|histidine-tRNA ligase activity (GO:0004821)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	19			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		L-Histidine(DB00117)	AGCTTCTTCTGTGCAGATGCC	0.537																																						ENST00000504366.1																			0				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	19						c.(1042-1044)Cag>Gag		histidyl-tRNA synthetase	L-Histidine(DB00117)						140	129	133					5																	140054664		2203	4300	6503	SO:0001583	missense	3035				histidyl-tRNA aminoacylation	cytosol	ATP binding|histidine-tRNA ligase activity	g.chr5:140054664G>C	AK000498	CCDS4237.1, CCDS58976.1, CCDS58977.1, CCDS58978.1, CCDS75323.1, CCDS75324.1	5q31.3	2012-10-02			ENSG00000170445	ENSG00000170445	6.1.1.21	"Aminoacyl tRNA synthetases / Class II"	4816	protein-coding gene	gene with protein product	"histidine tRNA ligase 1, cytoplasmic"	142810					Standard	XM_005268428		Approved		uc003lgv.4	P12081	OTTHUMG00000129502	ENST00000504156.1:c.1249C>G	5.37:g.140054664G>C	ENSP00000425634:p.Gln417Glu					HARS_ENST00000431330.2_Missense_Mutation_p.Q303E|HARS_ENST00000457527.2_Missense_Mutation_p.Q397E|HARS_ENST00000438307.2_Missense_Mutation_p.Q377E|HARS_ENST00000448240.1_Missense_Mutation_p.Q222E|HARS_ENST00000307633.3_Missense_Mutation_p.Q357E|HARS_ENST00000504156.1_Missense_Mutation_p.Q417E|HARS_ENST00000415192.2_Missense_Mutation_p.Q343E	p.Q348E			P12081	SYHC_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		10	2861	-			417					B4DHQ1|B4DY73|D6REN6|J3KNE5	Missense_Mutation	SNP	ENST00000504156.1	37	c.1042C>G	CCDS4237.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.335057	0.81801	.	.	ENSG00000170445	ENST00000504156;ENST00000457527;ENST00000431330;ENST00000504366;ENST00000307633;ENST00000448240;ENST00000438307;ENST00000415192	D;D;D;D;D;D;D;D	0.81996	-1.56;-1.56;-1.56;-1.56;-1.56;-1.56;-1.56;-1.56	5.43	5.43	0.79202	Anticodon-binding (3);	0.000000	0.85682	D	0.000000	D	0.91307	0.7259	M	0.79693	2.465	0.80722	D	1	B;B;D;D;D;D	0.65815	0.261;0.42;0.995;0.995;0.985;0.973	B;B;D;D;P;P	0.66196	0.149;0.221;0.942;0.942;0.903;0.903	D	0.91391	0.5135	10	0.56958	D	0.05	-7.1139	19.6058	0.95582	0.0:0.0:1.0:0.0	.	303;343;357;377;397;417	B4E1C5;B4DDD8;B4DHQ1;B4DY73;D6REN6;P12081	.;.;.;.;.;SYHC_HUMAN	E	417;397;303;348;357;222;377;343	ENSP00000425634:Q417E;ENSP00000387893:Q397E;ENSP00000393244:Q303E;ENSP00000430063:Q348E;ENSP00000304668:Q357E;ENSP00000413605:Q222E;ENSP00000411511:Q377E;ENSP00000411085:Q343E	ENSP00000304668:Q357E	Q	-	1	0	HARS	140034848	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.813000	0.99286	2.722000	0.93159	0.655000	0.94253	CAG		0.537	HARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251673.2	NM_002109		22	27	0	0	0	1	0	22	27					C	140054664	G	C	140054664	3	2	367	1	0	0	0	0	1	0	0	0	6959	1386	48	5	292	5	HARS	5	140054664	Missense_Mutation	SNP	G	TCGA-TP-A8TV-01A-11D-A41K-08	9287829	140054664	40860596	15	18290											
REPS1	85021	broad.mit.edu	37	chr6	139262626	139262626	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ttatcaaagtctgagagttcCctagaagataagtttattgt	13	15	8	5	0	2	3	1	1	1	3	3	4	3	3	1	0	0	2	1	0	6	7			TCGA-TP-A8TV-01A-11D-A41K-08	TCGA-TP-A8TV-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5e215fa-ef1d-4663-badb-152039afcbad	b6d5714c-04e4-4c50-aa90-47f20ab06b71	g.chr6:139262626C>A	ENST00000450536.2	-	8	1555	c.981G>T	c.(979-981)tgG>tgT	p.W327C	REPS1_ENST00000367663.4_Splice_Site_p.W327C|REPS1_ENST00000415951.2_Splice_Site_p.W327C|REPS1_ENST00000409812.2_Splice_Site_p.W327C|REPS1_ENST00000258062.5_Splice_Site_p.W327C			Q96D71	REPS1_HUMAN	RALBP1 associated Eps domain containing 1	327	EF-hand. {ECO:0000255|PROSITE- ProRule:PRU00448}.|EH 2. {ECO:0000255|PROSITE- ProRule:PRU00077}.				receptor-mediated endocytosis (GO:0006898)	coated pit (GO:0005905)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|SH3 domain binding (GO:0017124)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(2)	19				GBM - Glioblastoma multiforme(68;0.000434)|OV - Ovarian serous cystadenocarcinoma(155;0.000548)		CTGAGAGTTCCCTAGAAGATA	0.368																																						ENST00000450536.2																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(2)	19						c.e8-1		RALBP1 associated Eps domain containing 1							114	114	114					6																	139262626		2203	4300	6503	SO:0001630	splice_region_variant	85021					coated pit|plasma membrane	calcium ion binding|SH3 domain binding	g.chr6:139262626C>A		CCDS5193.2, CCDS47488.1, CCDS69212.1, CCDS69213.1	6q24.1	2013-01-10			ENSG00000135597	ENSG00000135597		"EF-hand domain containing"	15578	protein-coding gene	gene with protein product		614825					Standard	XM_005267177		Approved		uc011edr.2	Q96D71	OTTHUMG00000015685	ENST00000450536.2:c.981-1G>T	6.37:g.139262626C>A						REPS1_ENST00000258062.5_Splice_Site_p.W327_splice|REPS1_ENST00000415951.2_Splice_Site_p.W327_splice|REPS1_ENST00000367663.4_Splice_Site_p.W327_splice|REPS1_ENST00000409812.2_Splice_Site_p.W327_splice	p.W327_splice			Q96D71	REPS1_HUMAN		GBM - Glioblastoma multiforme(68;0.000434)|OV - Ovarian serous cystadenocarcinoma(155;0.000548)	8	1555	-			327			EF-hand.|EH 2.		B7ZBZ8|B7ZBZ9|B7ZC00|J3KP76|Q5JWJ5|Q5JWJ6|Q5JWJ7|Q8NDR7|Q8WU62|Q9BXY9	Splice_Site	SNP	ENST00000450536.2	37	c.980_splice		.	.	.	.	.	.	.	.	.	.	C	24.5	4.535476	0.85812	.	.	ENSG00000135597	ENST00000450536;ENST00000367663;ENST00000529597;ENST00000409812;ENST00000258062;ENST00000415951;ENST00000367668	T;T;T;T;T;T	0.52526	0.66;0.66;0.66;0.66;0.66;0.66	5.97	5.97	0.96955	EPS15 homology (EH) (2);EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	T	0.79070	0.4384	H	0.96691	3.865	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;0.999;1.0;1.0	D	0.85071	0.0940	10	0.87932	D	0	.	20.4388	0.99107	0.0:1.0:0.0:0.0	.	327;327;327;327	Q96D71-3;Q96D71-2;Q96D71;E9PMG1	.;.;REPS1_HUMAN;.	C	327;327;313;327;327;327;275	ENSP00000392065:W327C;ENSP00000356635:W327C;ENSP00000434251:W313C;ENSP00000386699:W327C;ENSP00000258062:W327C;ENSP00000397941:W327C	ENSP00000258062:W327C	W	-	3	0	REPS1	139304319	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.786000	0.85741	2.836000	0.97738	0.655000	0.94253	TGG		0.368	REPS1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000042447.3		Missense_Mutation	19	35	1	0	1.01871e-10	1	1.17152e-10	19	35					A	139262626	C	A	139262626	5	1	367	1	0	0	0	0	0	0	1	0	13228	637	22	5	1461	5	REPS1	6	139262626	Splice_Site	SNP	C	TCGA-TP-A8TV-01A-11D-A41K-08		139262626	31852441	16	18291											
GNAI1	2770	broad.mit.edu	37	chr7	79818543	79818543	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agactttggtgactcagcccGggcggtaagttattaaattt	10	13	11	7	2	1	2	1	1	0	1	1	2	1	2	1	3	1	2	1	3	4	5			TCGA-TP-A8TV-01A-11D-A41K-08	TCGA-TP-A8TV-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5e215fa-ef1d-4663-badb-152039afcbad	b6d5714c-04e4-4c50-aa90-47f20ab06b71	g.chr7:79818543G>A	ENST00000351004.3	+	3	672	c.299G>A	c.(298-300)cGg>cAg	p.R100Q	GNAI1_ENST00000457358.2_Missense_Mutation_p.R48Q|GNAI1_ENST00000490206.1_3'UTR	NM_002069.5	NP_002060.4	P63096	GNAI1_HUMAN	guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 1	100					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|blood coagulation (GO:0007596)|cell cycle (GO:0007049)|cell division (GO:0051301)|G-protein coupled receptor signaling pathway (GO:0007186)|platelet activation (GO:0030168)|response to peptide hormone (GO:0043434)|synaptic transmission (GO:0007268)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|lysosomal membrane (GO:0005765)|midbody (GO:0030496)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	G-protein beta/gamma-subunit complex binding (GO:0031683)|G-protein coupled serotonin receptor binding (GO:0031821)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)			NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	19						GACTCAGCCCGGGCGGTAAGT	0.403																																						ENST00000351004.3																			0				NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	19						c.(298-300)cGg>cAg		guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 1							118	118	118					7																	79818543		2203	4300	6503	SO:0001583	missense	2770				cell cycle|cell division|inhibition of adenylate cyclase activity by G-protein signaling pathway|platelet activation|synaptic transmission	centrosome|heterotrimeric G-protein complex|midbody|nucleus	G-protein beta/gamma-subunit complex binding|GTP binding|metabotropic serotonin receptor binding|signal transducer activity	g.chr7:79818543G>A	AL049933	CCDS5595.1, CCDS59061.1	7q21-q22	2008-07-18			ENSG00000127955	ENSG00000127955			4384	protein-coding gene	gene with protein product	"Gi1 protein alpha subunit"	139310				3110783	Standard	NM_002069		Approved		uc003uhb.1	P63096	OTTHUMG00000023523	ENST00000351004.3:c.299G>A	7.37:g.79818543G>A	ENSP00000343027:p.Arg100Gln					GNAI1_ENST00000490206.1_3'UTR|GNAI1_ENST00000457358.2_Missense_Mutation_p.R48Q	p.R100Q	NM_002069.5	NP_002060.4	P63096	GNAI1_HUMAN			3	672	+			100					A8KA88|B4E2V1|C9J3A4|P04898|P11015|P31871|Q5U074|Q8TAN5|Q9UGA4	Missense_Mutation	SNP	ENST00000351004.3	37	c.299G>A	CCDS5595.1	.	.	.	.	.	.	.	.	.	.	G	37	6.066145	0.97251	.	.	ENSG00000127955	ENST00000351004;ENST00000418742;ENST00000457358	T;T;T	0.43688	0.94;0.94;0.94	6.04	6.04	0.98038	G protein alpha subunit, helical insertion (2);	0.090424	0.85682	D	0.000000	T	0.45935	0.1367	L	0.38175	1.15	0.80722	D	1	D	0.56287	0.975	P	0.49192	0.602	T	0.11299	-1.0593	9	.	.	.	.	20.6524	0.99598	0.0:0.0:1.0:0.0	.	100	P63096	GNAI1_HUMAN	Q	100;48;48	ENSP00000343027:R100Q;ENSP00000389435:R48Q;ENSP00000410572:R48Q	.	R	+	2	0	GNAI1	79656479	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.869000	0.99810	2.890000	0.99128	0.585000	0.79938	CGG		0.403	GNAI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253254.1	NM_002069		5	38	0	0	0	1	0	5	38					A	79818543	G	A	79818543	3	1	367	1	0	0	0	0	1	0	0	0	6504	1116	39	2	309	2	GNAI1	7	79818543	Missense_Mutation	SNP	G	TCGA-TP-A8TV-01A-11D-A41K-08		79818543	79320120	17	18292											
GIMAP5	55340	broad.mit.edu	37	chr7	150439449	150439449	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtgaaaacaggaacatggaaCgggaggaaagtcctggtggt	14	6	16	5	1	0	1	0	1	0	0	1	5	1	5	1	6	3	0	1	6	5	0	rs142964864		TCGA-TP-A8TV-01A-11D-A41K-08	TCGA-TP-A8TV-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5e215fa-ef1d-4663-badb-152039afcbad	b6d5714c-04e4-4c50-aa90-47f20ab06b71	g.chr7:150439449C>T	ENST00000358647.3	+	3	589	c.222C>T	c.(220-222)aaC>aaT	p.N74N	GIMAP5_ENST00000479556.1_3'UTR	NM_018384.4	NP_060854.2	Q96F15	GIMA5_HUMAN	GTPase, IMAP family member 5	74	AIG1-type G.				myeloid dendritic cell differentiation (GO:0043011)|negative regulation of apoptotic process (GO:0043066)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of lipid catabolic process (GO:0050995)|negative regulation of nitric oxide biosynthetic process (GO:0045019)|negative regulation of T cell activation (GO:0050868)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation (GO:0032831)|positive regulation of gamma-delta T cell differentiation (GO:0045588)|positive regulation of humoral immune response mediated by circulating immunoglobulin (GO:0002925)|positive regulation of membrane potential (GO:0045838)|positive regulation of natural killer cell cytokine production (GO:0002729)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|regulation of mitochondrial membrane permeability (GO:0046902)|T cell differentiation (GO:0030217)|T cell homeostasis (GO:0043029)|temperature homeostasis (GO:0001659)	integral component of membrane (GO:0016021)|lysosome (GO:0005764)|mitochondrial outer membrane (GO:0005741)	GTP binding (GO:0005525)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|urinary_tract(2)	19			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GAACATGGAACGGGAGGAAAG	0.572													C|||	1	0.000199681	8e-04	0	5008	,	,		19167	0		0	False		,,,				2504	0					ENST00000358647.3																			0				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|urinary_tract(2)	19						c.(220-222)aaC>aaT		GTPase, IMAP family member 5							117	97	104					7																	150439449		2203	4300	6503	SO:0001819	synonymous_variant	55340							g.chr7:150439449C>T	AK002158	CCDS5907.1	7q36.1	2014-04-04	2004-10-29	2004-10-30	ENSG00000196329	ENSG00000196329		"GTPases, IMAP"	18005	protein-coding gene	gene with protein product	"immune-associated nucleotide-binding protein 5"	608086	"immune associated nucleotide 4 like 1 (mouse)"	IAN4L1			Standard	NM_018384		Approved	HIMAP3, IAN5		Q96F15	OTTHUMG00000157542	ENST00000358647.3:c.222C>T	7.37:g.150439449C>T						GIMAP5_ENST00000479556.1_3'UTR	p.N74N	NM_018384.4	NP_060854.2			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	3	589	+								D3DWZ5|Q6IA75|Q96NE4|Q9NUK9	Silent	SNP	ENST00000358647.3	37	c.222C>T	CCDS5907.1																																																																																				0.572	GIMAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349108.2	NM_018384		5	48	0	0	0	1	0	5	48					T	150439449	C	T	150439449	2	4	367	1	0	0	0	0	0	0	0	1	6382	535	19	1		1	GIMAP5	7	150439449	Silent	SNP	C	TCGA-TP-A8TV-01A-11D-A41K-08	70620906	150439449	8699214	18	18293											
PKHD1L1	93035	broad.mit.edu	37	chr8	110495238	110495238	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgtttggtgagctggatctTcatggaattccacattcaat	9	15	10	7	0	3	1	2	1	1	0	4	3	4	3	1	3	1	2	1	3	2	4			TCGA-TP-A8TV-01A-11D-A41K-08	TCGA-TP-A8TV-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5e215fa-ef1d-4663-badb-152039afcbad	b6d5714c-04e4-4c50-aa90-47f20ab06b71	g.chr8:110495238T>C	ENST00000378402.5	+	57	9584	c.9480T>C	c.(9478-9480)ctT>ctC	p.L3160L		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	3160	G8 2. {ECO:0000255|PROSITE- ProRule:PRU00817}.				immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			AGCTGGATCTTCATGGAATTC	0.408										HNSCC(38;0.096)																												ENST00000378402.5																			0				NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263						c.(9478-9480)ctT>ctC		polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1							155	149	151					8																	110495238		1842	4095	5937	SO:0001819	synonymous_variant	93035				immune response	cytosol|extracellular space|integral to membrane	receptor activity	g.chr8:110495238T>C	AY219181	CCDS47911.1	8q23	2003-03-28			ENSG00000205038	ENSG00000205038			20313	protein-coding gene	gene with protein product		607843				12620974	Standard	NM_177531		Approved		uc003yne.3	Q86WI1	OTTHUMG00000164934	ENST00000378402.5:c.9480T>C	8.37:g.110495238T>C		HNSCC(38;0.096)					p.L3160L	NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)		57	9584	+			3160			G8 2.		Q567P2|Q9UF27	Silent	SNP	ENST00000378402.5	37	c.9480T>C	CCDS47911.1																																																																																				0.408	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381017.1	NM_177531		3	10	0	0	0	1	0	3	10					C	110495238	T	C	110495238	2	2	367	1	0	0	0	0	0	0	0	1	11972	1770	62	4		4	PKHD1L1	8	110495238	Silent	SNP	T	TCGA-TP-A8TV-01A-11D-A41K-08		110495238	35868784	19	18294											
POU5F1B	5462	broad.mit.edu	37	chr8	128428375	128428375	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggggctagtgccccaaggCggcttggagacctctcagcc	6	7	15	13	1	1	1	1	0	1	1	2	2	1	1	4	5	2	2	4	5	2	2			TCGA-TP-A8TV-01A-11D-A41K-08	TCGA-TP-A8TV-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5e215fa-ef1d-4663-badb-152039afcbad	b6d5714c-04e4-4c50-aa90-47f20ab06b71	g.chr8:128428375C>T	ENST00000465342.2	+	2	1421	c.264C>T	c.(262-264)ggC>ggT	p.G88G	POU5F1B_ENST00000391675.1_Silent_p.G88G|CASC8_ENST00000501396.1_RNA|CASC8_ENST00000502082.1_RNA|CASC8_ENST00000523825.1_RNA			Q06416	P5F1B_HUMAN	POU class 5 homeobox 1B	88					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			lung(1)|prostate(1)|urinary_tract(1)	3						TGCCCCAAGGCGGCTTGGAGA	0.667																																						ENST00000465342.2																			0				lung(1)|prostate(1)|urinary_tract(1)	3						c.(262-264)ggC>ggT		POU class 5 homeobox 1B							2	2	2					8																	128428375		587	1429	2016	SO:0001819	synonymous_variant	5462					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr8:128428375C>T	AF268615	CCDS55274.1	8q24.21	2011-06-20	2009-04-15	2009-04-15	ENSG00000212993	ENSG00000212993		"Homeoboxes / POU class"	9223	protein-coding gene	gene with protein product		615739	"POU domain class 5, transcription factor 1 pseudogene 1", "POU class 5 homeobox 1 pseudogene 1"	OTF3P1, POU5F1P1		1408763	Standard	NM_001159542		Approved	OTF3C	uc003ysf.3	Q06416	OTTHUMG00000157807	ENST00000465342.2:c.264C>T	8.37:g.128428375C>T						CASC8_ENST00000501396.1_RNA|CASC8_ENST00000523825.1_RNA|POU5F1B_ENST00000391675.1_Silent_p.G88G|CASC8_ENST00000502082.1_RNA	p.G88G			Q06416	P5F1B_HUMAN			2	1421	+			88					D5K9S4|D5K9S9|D5K9T0|D5K9T1|D5K9T3|D5K9U3|D5K9U6|D5K9V4|D5K9V6|D5K9W0|D5K9W2|D5K9W7|D5K9X2|D5K9X3|D5K9X5|D5K9X8|D5K9X9|E9LRB1|E9LRB2|E9LRH5|E9LRH6|E9LRH7|E9LRK4|E9LRK5|E9LRK7|E9LRK8|E9LRM7|E9LRM9|E9LRN2|E9LRN4|E9LRN5|E9LRP8|E9LRQ0|E9LRQ2|E9LRQ3|E9LRQ4|E9LRQ5|E9LRS3|Q2VIK6|Q9BZV7|Q9BZV9	Silent	SNP	ENST00000465342.2	37	c.264C>T	CCDS55274.1																																																																																				0.667	POU5F1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349649.2	NM_001159542		9	26	0	0	0	1	0	9	26					T	128428375	C	T	128428375	2	4	367	1	0	0	0	0	0	0	0	1	12282	755	27	1		1	POU5F1B	8	128428375	Silent	SNP	C	TCGA-TP-A8TV-01A-11D-A41K-08	17933137	128428375	17935647	20	18295											
SURF6	6838	broad.mit.edu	37	chr9	136198945	136198945	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	agcaggcgttcgtcgtcacgGatcttcacgccctccgcctt	5	10	10	16	6	3	0	2	0	1	0	6	1	4	1	3	2	1	2	3	2	0	3			TCGA-TP-A8TV-01A-11D-A41K-08	TCGA-TP-A8TV-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5e215fa-ef1d-4663-badb-152039afcbad	b6d5714c-04e4-4c50-aa90-47f20ab06b71	g.chr9:136198945G>A	ENST00000372022.4	-	5	1111	c.846C>T	c.(844-846)atC>atT	p.I282I	SURF6_ENST00000468290.1_5'UTR	NM_006753.4	NP_006744.2	O75683	SURF6_HUMAN	surfeit 6	282					ribosome biogenesis (GO:0042254)	granular component (GO:0001652)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(1)|large_intestine(5)|lung(5)|ovary(1)	12				OV - Ovarian serous cystadenocarcinoma(145;1.16e-06)|Epithelial(140;8.34e-06)|all cancers(34;7.08e-05)		CGTCGTCACGGATCTTCACGC	0.687																																						ENST00000372022.4																			0				endometrium(1)|large_intestine(5)|lung(5)|ovary(1)	12						c.(844-846)atC>atT		surfeit 6							65	60	62					9																	136198945		2203	4300	6503	SO:0001819	synonymous_variant	6838					granular component	DNA binding|RNA binding	g.chr9:136198945G>A	AF186772	CCDS6962.1	9q33-q34	2010-07-06			ENSG00000148296	ENSG00000148296			11478	protein-coding gene	gene with protein product	"surfeit locus protein 6"	185642				9740673, 15629442	Standard	NM_006753		Approved	FLJ30322, RRP14	uc004cdb.4	O75683	OTTHUMG00000020871	ENST00000372022.4:c.846C>T	9.37:g.136198945G>A						SURF6_ENST00000468290.1_5'UTR	p.I282I	NM_006753.4	NP_006744.2	O75683	SURF6_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.16e-06)|Epithelial(140;8.34e-06)|all cancers(34;7.08e-05)	5	1111	-			282					Q5T8U1|Q9BRK9|Q9BTZ5|Q9UK24	Silent	SNP	ENST00000372022.4	37	c.846C>T	CCDS6962.1																																																																																				0.687	SURF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054905.1	NM_006753		8	61	0	0	0	1	0	8	61					A	136198945	G	A	136198945	2	1	367	1	0	0	0	0	0	0	0	1	15403	1164	41	3		3	SURF6	9	136198945	Silent	SNP	G	TCGA-TP-A8TV-01A-11D-A41K-08		136198945	5014486	21	18296											
FBXO18	84893	broad.mit.edu	37	chr10	5966434	5966434	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	attccagagctggtgcaaagGatagaaaaatgccatataga	17	8	10	6	0	0	3	0	0	0	3	1	4	1	4	2	2	3	2	2	2	6	4			TCGA-TP-A8TV-01A-11D-A41K-08	TCGA-TP-A8TV-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5e215fa-ef1d-4663-badb-152039afcbad	b6d5714c-04e4-4c50-aa90-47f20ab06b71	g.chr10:5966434G>T	ENST00000362091.4	+	17	2674	c.2559G>T	c.(2557-2559)agG>agT	p.R853S	FBXO18_ENST00000397269.3_Missense_Mutation_p.R340S|FBXO18_ENST00000379999.5_Missense_Mutation_p.R904S	NM_001258453.1|NM_178150.2	NP_001245382.1|NP_835363.1	Q8NFZ0	FBX18_HUMAN	F-box protein, helicase, 18	853					DNA catabolic process, endonucleolytic (GO:0000737)|positive regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902231)|positive regulation of protein phosphorylation (GO:0001934)|response to intra-S DNA damage checkpoint signaling (GO:0072429)	nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)			NS(2)|breast(2)|kidney(2)|large_intestine(16)|lung(9)|ovary(2)|prostate(3)|skin(3)|stomach(1)	40						TGGTGCAAAGGATAGAAAAAT	0.458																																						ENST00000379999.5																			0				NS(2)|breast(2)|kidney(2)|large_intestine(16)|lung(9)|ovary(2)|prostate(3)|skin(3)|stomach(1)	40						c.(2710-2712)agG>agT		F-box protein, helicase, 18							99	104	102					10																	5966434		2203	4300	6503	SO:0001583	missense	84893				DNA repair	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding	g.chr10:5966434G>T	AK095343	CCDS7072.1, CCDS7073.1, CCDS73064.1	10p15.1	2004-08-24	2004-06-15		ENSG00000134452	ENSG00000134452		"F-boxes /  "other""	13620	protein-coding gene	gene with protein product		607222	"F-box only protein 18"			10531037, 11956208	Standard	NM_032807		Approved	FBH1, FLJ14590, Fbx18	uc001iit.4	Q8NFZ0	OTTHUMG00000017609	ENST00000362091.4:c.2559G>T	10.37:g.5966434G>T	ENSP00000355415:p.Arg853Ser					FBXO18_ENST00000379994.1_Intron|FBXO18_ENST00000397269.3_Missense_Mutation_p.R340S|FBXO18_ENST00000362091.4_Missense_Mutation_p.R853S	p.R904S	NM_032807.4	NP_116196.3	Q8NFZ0	FBX18_HUMAN			18	2816	+			853					Q5JVB0|Q5JVB1|Q7Z4Q6|Q7Z4R0|Q8N1P5|Q8N586|Q96E82|Q96K67|Q96SW7|Q9UFB2	Missense_Mutation	SNP	ENST00000362091.4	37	c.2712G>T	CCDS7072.1	.	.	.	.	.	.	.	.	.	.	G	15.93	2.979238	0.53827	.	.	ENSG00000134452	ENST00000397269;ENST00000362091;ENST00000379999	.	.	.	5.33	4.42	0.53409	.	0.143562	0.64402	D	0.000014	T	0.58466	0.2124	L	0.34521	1.04	0.45452	D	0.99842	P;D;P	0.55605	0.928;0.972;0.619	P;P;P	0.54100	0.546;0.742;0.455	T	0.56703	-0.7935	9	0.32370	T	0.25	-24.9075	15.3785	0.74633	0.0:0.1402:0.8598:0.0	.	904;853;779	Q8NFZ0-2;Q8NFZ0;Q2TAK1	.;FBX18_HUMAN;.	S	340;853;904	.	ENSP00000355415:R853S	R	+	3	2	FBXO18	6006440	1.000000	0.71417	1.000000	0.80357	0.413000	0.31143	1.176000	0.31957	1.378000	0.46305	0.555000	0.69702	AGG		0.458	FBXO18-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046596.1	NM_032807		16	24	1	0	3.52763e-06	1	3.8636e-06	16	24					T	5966434	G	T	5966434	3	4	367	1	0	0	0	0	1	0	0	0	5731	1165	41	5	2787	5	FBXO18	10	5966434	Missense_Mutation	SNP	G	TCGA-TP-A8TV-01A-11D-A41K-08		5966434	129568313	22	18297											
GLUD1	2746	broad.mit.edu	37	chr10	88818951	88818951	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tttcatatttgaaggtcaaaCggccatagctgacatgattt	12	14	8	7	1	2	3	2	3	0	0	2	3	2	3	1	2	2	1	1	2	4	5			TCGA-TP-A8TV-01A-11D-A41K-08	TCGA-TP-A8TV-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5e215fa-ef1d-4663-badb-152039afcbad	b6d5714c-04e4-4c50-aa90-47f20ab06b71	g.chr10:88818951C>T	ENST00000277865.4	-	10	1454	c.1358G>A	c.(1357-1359)cGt>cAt	p.R453H	GLUD1_ENST00000544149.1_Missense_Mutation_p.R320H|GLUD1_ENST00000537649.1_Missense_Mutation_p.R286H|GLUD1_ENST00000465164.1_5'Flank	NM_005271.3	NP_005262.1	P00367	DHE3_HUMAN	glutamate dehydrogenase 1	453					cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|glutamate biosynthetic process (GO:0006537)|glutamate catabolic process (GO:0006538)|glutamine metabolic process (GO:0006541)|positive regulation of insulin secretion (GO:0032024)|small molecule metabolic process (GO:0044281)|substantia nigra development (GO:0021762)|tricarboxylic acid metabolic process (GO:0072350)	cytoplasm (GO:0005737)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|glutamate dehydrogenase (NAD+) activity (GO:0004352)|glutamate dehydrogenase [NAD(P)+] activity (GO:0004353)|GTP binding (GO:0005525)|identical protein binding (GO:0042802)|leucine binding (GO:0070728)|NAD+ binding (GO:0070403)			endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(11)|prostate(1)	22					Hexachlorophene(DB00756)	GAAGGTCAAACGGCCATAGCT	0.403																																						ENST00000277865.4																			0				endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(11)|prostate(1)	22						c.(1357-1359)cGt>cAt		glutamate dehydrogenase 1	L-Glutamic Acid(DB00142)|NADH(DB00157)						183	179	180					10																	88818951		2203	4298	6501	SO:0001583	missense	2746				glutamate biosynthetic process|glutamate catabolic process|positive regulation of insulin secretion	mitochondrial matrix	ADP binding|ATP binding|glutamate dehydrogenase|glutamate dehydrogenase activity|GTP binding|identical protein binding|leucine binding|NAD+ binding	g.chr10:88818951C>T	M20867	CCDS7382.1	10q23.2	2010-03-17			ENSG00000148672	ENSG00000148672	1.4.1.3		4335	protein-coding gene	gene with protein product		138130		GLUD		2757358	Standard	NM_005271		Approved	GDH	uc001keh.3	P00367	OTTHUMG00000018666	ENST00000277865.4:c.1358G>A	10.37:g.88818951C>T	ENSP00000277865:p.Arg453His					GLUD1_ENST00000544149.1_Missense_Mutation_p.R320H|GLUD1_ENST00000537649.1_Missense_Mutation_p.R286H	p.R453H	NM_005271.3	NP_005262.1	P00367	DHE3_HUMAN			10	1454	-			453					B3KV55|B4DGN5|Q5TBU3	Missense_Mutation	SNP	ENST00000277865.4	37	c.1358G>A	CCDS7382.1	.	.	.	.	.	.	.	.	.	.	C	34	5.301047	0.95601	.	.	ENSG00000148672	ENST00000277865;ENST00000394415;ENST00000537649;ENST00000535802;ENST00000513510;ENST00000544149	D;D;D	0.95342	-3.68;-3.68;-3.68	5.72	5.72	0.89469	Glutamate/phenylalanine/leucine/valine dehydrogenase, C-terminal (2);NAD(P)-binding domain (1);	0.049708	0.85682	N	0.000000	D	0.98444	0.9482	H	0.97051	3.93	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.98911	1.0780	10	0.87932	D	0	-2.3173	20.3045	0.98621	0.0:1.0:0.0:0.0	.	320;453	B4DGN5;P00367	.;DHE3_HUMAN	H	453;410;286;152;385;320	ENSP00000277865:R453H;ENSP00000439291:R286H;ENSP00000444732:R320H	ENSP00000277865:R453H	R	-	2	0	GLUD1	88808931	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	7.486000	0.81215	2.878000	0.98634	0.650000	0.86243	CGT		0.403	GLUD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049188.1	NM_005271		4	163	0	0	0	1	0	4	163					T	88818951	C	T	88818951	3	4	367	1	0	0	0	0	1	0	0	0	6476	536	19	1	334	1	GLUD1	10	88818951	Missense_Mutation	SNP	C	TCGA-TP-A8TV-01A-11D-A41K-08	82852517	88818951	46715796	23	18298											
STAMBPL1	57559	broad.mit.edu	37	chr10	90672938	90672938	+	Missense_Mutation	SNP	G	G	A																															aggaagcggattgctcagatGcgccagcagcagctagaatc																										TCGA-TP-A8TV-01A-11D-A41K-08	TCGA-TP-A8TV-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5e215fa-ef1d-4663-badb-152039afcbad	b6d5714c-04e4-4c50-aa90-47f20ab06b71	g.chr10:90672938G>A	ENST00000371926.3	+	6	1459	c.501G>A	c.(499-501)atG>atA	p.M167I	STAMBPL1_ENST00000371924.1_Missense_Mutation_p.M167I|STAMBPL1_ENST00000371922.1_Start_Codon_SNP_p.M1I|STAMBPL1_ENST00000371927.3_Missense_Mutation_p.M167I	NM_020799.3	NP_065850.1	Q96FJ0	STALP_HUMAN	STAM binding protein-like 1	167						membrane (GO:0016020)	metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)			breast(2)|endometrium(1)|large_intestine(2)|liver(2)|lung(2)|ovary(1)|skin(1)	11		Colorectal(252;0.0381)		Colorectal(12;6.38e-05)|COAD - Colon adenocarcinoma(12;7.75e-05)		TTGCTCAGATGCGCCAGCAGC	0.443																																						ENST00000371927.3																			0				breast(2)|endometrium(1)|large_intestine(2)|liver(2)|lung(2)|ovary(1)|skin(1)	11						c.(499-501)atG>atA		STAM binding protein-like 1							76	78	77					10																	90672938		2203	4300	6503	SO:0001583	missense	57559						metal ion binding|metallopeptidase activity|protein binding	g.chr10:90672938G>A	AB037794	CCDS7391.1	10q23.32	2006-11-08			ENSG00000138134	ENSG00000138134			24105	protein-coding gene	gene with protein product	"associated molecule with the SH3 domain of STAM (AMSH) like protein", "associated molecule with the SH3 domain of STAM (AMSH) - Family Protein"	612352				12810066, 12943674	Standard	NM_020799		Approved	AMSH-LP, KIAA1373, AMSH-FP, FLJ31524, ALMalpha, bA399O19.2	uc001kfk.4	Q96FJ0	OTTHUMG00000018702	ENST00000371926.3:c.501G>A	10.37:g.90672938G>A	ENSP00000360994:p.Met167Ile					STAMBPL1_ENST00000371922.1_Start_Codon_SNP_p.M1I|STAMBPL1_ENST00000371924.1_Missense_Mutation_p.M167I|STAMBPL1_ENST00000371926.3_Missense_Mutation_p.M167I	p.M167I			Q96FJ0	STALP_HUMAN		Colorectal(12;6.38e-05)|COAD - Colon adenocarcinoma(12;7.75e-05)	6	1459	+		Colorectal(252;0.0381)	167					B3KPA7|Q5T9N4|Q5T9N9|Q7Z420|Q9P2H4	Missense_Mutation	SNP	ENST00000371926.3	37	c.501G>A	CCDS7391.1	.	.	.	.	.	.	.	.	.	.	G	17.11	3.305715	0.60305	.	.	ENSG00000138134	ENST00000371926;ENST00000371927;ENST00000371924;ENST00000371922	T;T;T;T	0.23348	1.97;1.93;1.97;1.91	5.98	5.98	0.97165	.	0.058289	0.64402	D	0.000001	T	0.28366	0.0701	L	0.46157	1.445	0.80722	D	1	B;B	0.11235	0.004;0.001	B;B	0.15052	0.012;0.002	T	0.01711	-1.1290	10	0.41790	T	0.15	-5.4911	19.0085	0.92863	0.0:0.0:1.0:0.0	.	167;167	Q96FJ0-2;Q96FJ0	.;STALP_HUMAN	I	167;167;167;1	ENSP00000360994:M167I;ENSP00000360995:M167I;ENSP00000360992:M167I;ENSP00000360990:M1I	ENSP00000360990:M1I	M	+	3	0	STAMBPL1	90662918	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.704000	0.54815	2.834000	0.97654	0.655000	0.94253	ATG		0.443	STAMBPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049283.1	NM_020799		12	65	0	0	0	1	0	12	65					A	90672938	G	A	90672938	3	1	367	1	0	0	0	0	1	0	0	0	15250	1319	46	3	519	3	STAMBPL1	10	90672938	Missense_Mutation	SNP	G	TCGA-TP-A8TV-01A-11D-A41K-08	1853987	90672938	44861809	24	18299	93	2									
STAMBPL1	57559	broad.mit.edu	37	chr10	90672939	90672939	+	Missense_Mutation	SNP	C	C	G																															ggaagcggattgctcagatgCgccagcagcagctagaatcg																										TCGA-TP-A8TV-01A-11D-A41K-08	TCGA-TP-A8TV-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5e215fa-ef1d-4663-badb-152039afcbad	b6d5714c-04e4-4c50-aa90-47f20ab06b71	g.chr10:90672939C>G	ENST00000371926.3	+	6	1460	c.502C>G	c.(502-504)Cgc>Ggc	p.R168G	STAMBPL1_ENST00000371924.1_Missense_Mutation_p.R168G|STAMBPL1_ENST00000371922.1_Missense_Mutation_p.R2G|STAMBPL1_ENST00000371927.3_Missense_Mutation_p.R168G	NM_020799.3	NP_065850.1	Q96FJ0	STALP_HUMAN	STAM binding protein-like 1	168						membrane (GO:0016020)	metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)			breast(2)|endometrium(1)|large_intestine(2)|liver(2)|lung(2)|ovary(1)|skin(1)	11		Colorectal(252;0.0381)		Colorectal(12;6.38e-05)|COAD - Colon adenocarcinoma(12;7.75e-05)		TGCTCAGATGCGCCAGCAGCA	0.443																																						ENST00000371927.3																			0				breast(2)|endometrium(1)|large_intestine(2)|liver(2)|lung(2)|ovary(1)|skin(1)	11						c.(502-504)Cgc>Ggc		STAM binding protein-like 1							75	78	77					10																	90672939		2203	4300	6503	SO:0001583	missense	57559						metal ion binding|metallopeptidase activity|protein binding	g.chr10:90672939C>G	AB037794	CCDS7391.1	10q23.32	2006-11-08			ENSG00000138134	ENSG00000138134			24105	protein-coding gene	gene with protein product	"associated molecule with the SH3 domain of STAM (AMSH) like protein", "associated molecule with the SH3 domain of STAM (AMSH) - Family Protein"	612352				12810066, 12943674	Standard	NM_020799		Approved	AMSH-LP, KIAA1373, AMSH-FP, FLJ31524, ALMalpha, bA399O19.2	uc001kfk.4	Q96FJ0	OTTHUMG00000018702	ENST00000371926.3:c.502C>G	10.37:g.90672939C>G	ENSP00000360994:p.Arg168Gly					STAMBPL1_ENST00000371922.1_Missense_Mutation_p.R2G|STAMBPL1_ENST00000371924.1_Missense_Mutation_p.R168G|STAMBPL1_ENST00000371926.3_Missense_Mutation_p.R168G	p.R168G			Q96FJ0	STALP_HUMAN		Colorectal(12;6.38e-05)|COAD - Colon adenocarcinoma(12;7.75e-05)	6	1460	+		Colorectal(252;0.0381)	168					B3KPA7|Q5T9N4|Q5T9N9|Q7Z420|Q9P2H4	Missense_Mutation	SNP	ENST00000371926.3	37	c.502C>G	CCDS7391.1	.	.	.	.	.	.	.	.	.	.	C	18.65	3.668890	0.67814	.	.	ENSG00000138134	ENST00000371926;ENST00000371927;ENST00000371924;ENST00000371922	T;T;T;T	0.26223	1.84;1.82;1.84;1.75	5.98	3.96	0.45880	.	0.000000	0.64402	D	0.000001	T	0.38401	0.1039	L	0.35414	1.06	0.41790	D	0.989865	D;D	0.89917	0.994;1.0	D;D	0.81914	0.931;0.995	T	0.17410	-1.0370	10	0.87932	D	0	-2.7026	13.68	0.62479	0.29:0.71:0.0:0.0	.	168;168	Q96FJ0-2;Q96FJ0	.;STALP_HUMAN	G	168;168;168;2	ENSP00000360994:R168G;ENSP00000360995:R168G;ENSP00000360992:R168G;ENSP00000360990:R2G	ENSP00000360990:R2G	R	+	1	0	STAMBPL1	90662919	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	0.901000	0.28445	2.834000	0.97654	0.655000	0.94253	CGC		0.443	STAMBPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049283.1	NM_020799		12	65	0	0	0	1	0	12	65					G	90672939	C	G	90672939	3	3	367	1	0	0	0	0	1	0	0	0	15250	768	27	5	520	5	STAMBPL1	10	90672939	Missense_Mutation	SNP	C	TCGA-TP-A8TV-01A-11D-A41K-08	1	90672939	44861808	25	18300	93	2									
MUC6	4588	broad.mit.edu	37	chr11	1017661	1017663	+	In_Frame_Del	DEL	TGT	TGT	-																															actggtggggttgggggtgaTgttggtggtagaagttgagg																										TCGA-TP-A8TV-01A-11D-A41K-08	TCGA-TP-A8TV-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5e215fa-ef1d-4663-badb-152039afcbad	b6d5714c-04e4-4c50-aa90-47f20ab06b71	g.chr11:1017661_1017663delTGT	ENST00000421673.2	-	31	5188_5190	c.5138_5140delACA	c.(5137-5142)aacatc>atc	p.N1713del		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	1713	Approximate repeats.|Thr-rich.				cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)	extracellular matrix structural constituent (GO:0005201)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		TTGGGGGTGATGTTGGTGGTAGA	0.527																																						ENST00000421673.2																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						c.(5137-5142)atc>a		mucin 6, oligomeric mucus/gel-forming																																				SO:0001651	inframe_deletion	4588				maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent	g.chr11:1017661_1017663delTGT	U97698, AY312160	CCDS44513.1	11p15.5	2008-02-05	2006-03-14		ENSG00000184956	ENSG00000184956		"Mucins"	7517	protein-coding gene	gene with protein product		158374	"mucin 6, gastric"			7680650	Standard	NM_005961		Approved		uc001lsw.2	Q6W4X9	OTTHUMG00000165140	ENST00000421673.2:c.5138_5140delACA	11.37:g.1017661_1017663delTGT	ENSP00000406861:p.Asn1713del						p.NI1713del	NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	31	5188_5190	-		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	1713			Approximate repeats.|Thr-rich.		O15329|Q14394|Q2TUQ5|Q4L207|Q8N8I1|Q8NAK1	In_Frame_Del	DEL	ENST00000421673.2	37	c.5138_5140delACA	CCDS44513.1																																																																																				0.527	MUC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382120.2	XM_290540		12	505						12	505	---	---	---	---	-	1017663	TGT	-	1017661	7	5	367	1	0	1	0	1	0	0	0	0	9980	1464	51	0	2191	0	MUC6	11	1017661	In_Frame_Del	DEL	TGT	TCGA-TP-A8TV-01A-11D-A41K-08		1017661	133988855	26	18301											
OR52J3	119679	broad.mit.edu	37	chr11	5068392	5068392	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ctttctttgttctgaacctgGtgctcattggcatctcgtat	5	18	8	10	1	4	1	1	1	3	0	5	1	4	1	1	2	2	4	1	2	2	5			TCGA-TP-A8TV-01A-11D-A41K-08	TCGA-TP-A8TV-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5e215fa-ef1d-4663-badb-152039afcbad	b6d5714c-04e4-4c50-aa90-47f20ab06b71	g.chr11:5068392G>C	ENST00000380370.1	+	1	637	c.637G>C	c.(637-639)Gtg>Ctg	p.V213L		NM_001001916.2	NP_001001916.2	Q8NH60	O52J3_HUMAN	olfactory receptor, family 52, subfamily J, member 3	213						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(1)|kidney(6)|large_intestine(6)|lung(19)|ovary(1)|skin(2)	36		Medulloblastoma(188;0.00131)|all_neural(188;0.0189)|Breast(177;0.0204)		Epithelial(150;9.29e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.19)		TCTGAACCTGGTGCTCATTGG	0.458																																						ENST00000380370.1																			0				NS(1)|endometrium(1)|kidney(6)|large_intestine(6)|lung(19)|ovary(1)|skin(2)	36						c.(637-639)Gtg>Ctg		olfactory receptor, family 52, subfamily J, member 3							332	299	310					11																	5068392		2201	4298	6499	SO:0001583	missense	119679				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5068392G>C	AB065530	CCDS31370.1	11p15.4	2012-08-09			ENSG00000205495	ENSG00000205495		"GPCR / Class A : Olfactory receptors"	14799	protein-coding gene	gene with protein product							Standard	NM_001001916		Approved		uc010qyv.2	Q8NH60	OTTHUMG00000066600	ENST00000380370.1:c.637G>C	11.37:g.5068392G>C	ENSP00000369728:p.Val213Leu						p.V213L	NM_001001916.2	NP_001001916.2	Q8NH60	O52J3_HUMAN		Epithelial(150;9.29e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.19)	1	637	+		Medulloblastoma(188;0.00131)|all_neural(188;0.0189)|Breast(177;0.0204)	213					Q6IFE4	Missense_Mutation	SNP	ENST00000380370.1	37	c.637G>C	CCDS31370.1	.	.	.	.	.	.	.	.	.	.	G	0.790	-0.759300	0.03019	.	.	ENSG00000205495	ENST00000380370	T	0.35048	1.33	4.19	1.98	0.26296	GPCR, rhodopsin-like superfamily (1);	0.369709	0.18963	N	0.126352	T	0.19406	0.0466	N	0.20845	0.615	0.09310	N	1	B	0.10296	0.003	B	0.20577	0.03	T	0.24297	-1.0164	10	0.12766	T	0.61	.	7.5485	0.27781	0.31:0.0:0.69:0.0	.	213	Q8NH60	O52J3_HUMAN	L	213	ENSP00000369728:V213L	ENSP00000369728:V213L	V	+	1	0	OR52J3	5024968	0.000000	0.05858	0.002000	0.10522	0.018000	0.09664	-2.536000	0.00940	0.801000	0.34066	0.655000	0.94253	GTG		0.458	OR52J3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142807.1	NM_001001916		4	114	0	0	0	1	0	4	114					C	5068392	G	C	5068392	3	2	367	1	0	0	0	0	1	0	0	0	11122	1261	44	5	639	5	OR52J3	11	5068392	Missense_Mutation	SNP	G	TCGA-TP-A8TV-01A-11D-A41K-08	4050731	5068392	129938124	27	18302											
CSTF3	1479	broad.mit.edu	37	chr11	33129494	33129494	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tttctcggacatatgaaagaTaacacttccataaatcaatg	16	12	5	8	1	2	2	1	1	1	1	4	3	3	3	1	1	1	0	1	1	6	5			TCGA-TP-A8TV-01A-11D-A41K-08	TCGA-TP-A8TV-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5e215fa-ef1d-4663-badb-152039afcbad	b6d5714c-04e4-4c50-aa90-47f20ab06b71	g.chr11:33129494T>A	ENST00000323959.4	-	5	450	c.311A>T	c.(310-312)tAt>tTt	p.Y104F	CSTF3_ENST00000524827.1_Missense_Mutation_p.Y136F	NM_001326.2	NP_001317.1	Q12996	CSTF3_HUMAN	cleavage stimulation factor, 3' pre-RNA, subunit 3, 77kDa	104					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA cleavage (GO:0006379)|mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|prostate(1)|skin(1)|stomach(1)	19						ATATGAAAGATAACACTTCCA	0.338																																						ENST00000323959.4																			0				breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|prostate(1)|skin(1)|stomach(1)	19						c.(310-312)tAt>tTt		cleavage stimulation factor, 3' pre-RNA, subunit 3, 77kDa							155	142	146					11																	33129494		2202	4298	6500	SO:0001583	missense	1479				mRNA cleavage|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nucleoplasm	protein binding|RNA binding	g.chr11:33129494T>A	U15782	CCDS7883.1, CCDS44563.1, CCDS44564.1	11p13	2007-01-05	2002-08-29		ENSG00000176102	ENSG00000176102			2485	protein-coding gene	gene with protein product		600367	"cleavage stimulation factor, 3' pre-RNA, subunit 3, 77kD"			7984242	Standard	XM_006718154		Approved	CstF-77	uc001muh.3	Q12996	OTTHUMG00000166268	ENST00000323959.4:c.311A>T	11.37:g.33129494T>A	ENSP00000315791:p.Tyr104Phe					CSTF3_ENST00000524827.1_Missense_Mutation_p.Y136F	p.Y104F	NM_001326.2	NP_001317.1	Q12996	CSTF3_HUMAN			5	450	-			104					A8K471|D3DR04|E9PB40|Q32P22|Q96FQ8|Q96QD6|Q96QK4	Missense_Mutation	SNP	ENST00000323959.4	37	c.311A>T	CCDS7883.1	.	.	.	.	.	.	.	.	.	.	T	28.0	4.883865	0.91814	.	.	ENSG00000176102	ENST00000323959;ENST00000537832;ENST00000524827	T;T	0.53423	0.62;0.62	5.43	5.43	0.79202	.	0.000000	0.85682	D	0.000000	T	0.73737	0.3625	M	0.89414	3.03	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.79892	-0.1611	10	0.87932	D	0	.	15.4775	0.75497	0.0:0.0:0.0:1.0	.	104	Q12996	CSTF3_HUMAN	F	104;37;136	ENSP00000315791:Y104F;ENSP00000431355:Y136F	ENSP00000315791:Y104F	Y	-	2	0	CSTF3	33086070	1.000000	0.71417	0.997000	0.53966	0.995000	0.86356	8.035000	0.88872	2.066000	0.61787	0.533000	0.62120	TAT		0.338	CSTF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388801.1	NM_001326		25	37	0	0	0	1	0	25	37					A	33129494	T	A	33129494	3	1	367	1	0	0	0	0	1	0	0	0	3986	1406	49	5	1910	5	CSTF3	11	33129494	Missense_Mutation	SNP	T	TCGA-TP-A8TV-01A-11D-A41K-08	28061102	33129494	101877022	28	18303											
SPRYD5	84767	broad.mit.edu	37	chr11	55652923	55652923	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acatgaattctggaatcttgCaagtcttccagagggcactc	11	11	9	10	0	3	2	0	1	3	1	5	3	4	3	1	2	1	2	1	2	3	3			TCGA-TP-A8TV-01A-11D-A41K-08	TCGA-TP-A8TV-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5e215fa-ef1d-4663-badb-152039afcbad	b6d5714c-04e4-4c50-aa90-47f20ab06b71	g.chr11:55652923C>A	ENST00000449290.2	+	2	111	c.19C>A	c.(19-21)Caa>Aaa	p.Q7K	TRIM51_ENST00000244891.3_5'Flank	NM_032681.3	NP_116070.2	Q9BSJ1	TRI51_HUMAN	tripartite motif-containing 51	7						intracellular (GO:0005622)	zinc ion binding (GO:0008270)										TGGAATCTTGCAAGTCTTCCA	0.478																																						ENST00000449290.2																			0											c.(19-21)Caa>Aaa		tripartite motif-containing 51							11	9	9					11																	55652923		691	1586	2277	SO:0001583	missense	84767					intracellular	zinc ion binding	g.chr11:55652923C>A	BC005014		11p11	2013-01-09	2012-05-18	2012-05-18	ENSG00000124900	ENSG00000124900		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	19023	protein-coding gene	gene with protein product			"SPRY domain containing 5"	SPRYD5			Standard	NM_032681		Approved	TRIM51A	uc010rip.2	Q9BSJ1	OTTHUMG00000156437	ENST00000449290.2:c.19C>A	11.37:g.55652923C>A	ENSP00000395086:p.Gln7Lys						p.Q7K	NM_032681.3	NP_116070.2	Q9BSJ1	SPRY5_HUMAN			2	111	+			7					A6NMG2	Missense_Mutation	SNP	ENST00000449290.2	37	c.19C>A		.	.	.	.	.	.	.	.	.	.	.	4.753	0.140013	0.09083	.	.	ENSG00000124900	ENST00000449290	D	0.83591	-1.74	0.803	-1.61	0.08399	Zinc finger, RING/FYVE/PHD-type (1);	.	.	.	.	T	0.66934	0.2840	N	0.26092	0.79	0.09310	N	1	B	0.20671	0.047	B	0.23419	0.046	T	0.52396	-0.8581	9	0.35671	T	0.21	.	1.5847	0.02641	0.3371:0.3888:0.0:0.2741	.	7	Q9BSJ1	SPRY5_HUMAN	K	7	ENSP00000395086:Q7K	ENSP00000395086:Q7K	Q	+	1	0	SPRYD5	55409499	0.048000	0.20356	0.001000	0.08648	0.168000	0.22595	-0.064000	0.11636	-0.245000	0.09625	0.152000	0.16155	CAA		0.478	TRIM51-004	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000391522.1	NM_032681		23	52	1	0	4.22769e-11	1	4.94425e-11	23	52					A	55652923	C	A	55652923	3	1	367	1	0	0	0	0	1	0	0	0	15110	711	25	5	21	5	SPRYD5	11	55652923	Missense_Mutation	SNP	C	TCGA-TP-A8TV-01A-11D-A41K-08	22523429	55652923	79353593	29	18304											
TNKS1BP1	85456	broad.mit.edu	37	chr11	57076312	57076312	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ggactgcagactgcccctggGgccatgtttctcagcccaag	7	8	12	14	0	1	1	1	0	1	1	2	2	1	2	4	3	3	2	4	3	1	1			TCGA-TP-A8TV-01A-11D-A41K-08	TCGA-TP-A8TV-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5e215fa-ef1d-4663-badb-152039afcbad	b6d5714c-04e4-4c50-aa90-47f20ab06b71	g.chr11:57076312G>A	ENST00000532437.1	-	5	4184	c.3873C>T	c.(3871-3873)gcC>gcT	p.A1291A	TNKS1BP1_ENST00000358252.3_Silent_p.A1291A|TNKS1BP1_ENST00000530920.1_5'Flank			Q9C0C2	TB182_HUMAN	tankyrase 1 binding protein 1, 182kDa	1291	Acidic.|Gly-rich.				gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|RNA metabolic process (GO:0016070)|telomere maintenance via telomerase (GO:0007004)	CCR4-NOT complex (GO:0030014)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nuclear telomeric heterochromatin (GO:0005724)|nucleus (GO:0005634)	ankyrin binding (GO:0030506)|enzyme binding (GO:0019899)			breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	64		all_epithelial(135;0.21)				CTGCCCCTGGGGCCATGTTTC	0.587																																						ENST00000532437.1																			0				breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						c.(3871-3873)gcC>gcT		tankyrase 1 binding protein 1, 182kDa							102	105	104					11																	57076312		2201	4296	6497	SO:0001819	synonymous_variant	85456				nuclear-transcribed mRNA poly(A) tail shortening|telomere maintenance via telomerase	cytoskeleton|cytosol|nuclear telomeric heterochromatin	ankyrin binding|enzyme binding	g.chr11:57076312G>A	AB051528	CCDS7951.1	11q12.2	2008-07-21			ENSG00000149115	ENSG00000149115			19081	protein-coding gene	gene with protein product		607104				11854288	Standard	NM_033396		Approved	TAB182, KIAA1741, FLJ45975	uc001njs.3	Q9C0C2	OTTHUMG00000167022	ENST00000532437.1:c.3873C>T	11.37:g.57076312G>A						TNKS1BP1_ENST00000358252.3_Silent_p.A1291A	p.A1291A			Q9C0C2	TB182_HUMAN			5	4184	-		all_epithelial(135;0.21)	1291			Acidic.|Gly-rich.		A7E2F8|Q6PJ35|Q6ZV74	Silent	SNP	ENST00000532437.1	37	c.3873C>T	CCDS7951.1																																																																																				0.587	TNKS1BP1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392455.1	NM_033396		34	69	0	0	0	1	0	34	69					A	57076312	G	A	57076312	2	1	367	1	0	0	0	0	0	0	0	1	16317	1219	43	3		3	TNKS1BP1	11	57076312	Silent	SNP	G	TCGA-TP-A8TV-01A-11D-A41K-08	1423389	57076312	77930204	30	18305											
ELMOD1	55531	broad.mit.edu	37	chr11	107535808	107535808	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaggaccccatggacataaTggaatttaatcgtgtgaggg	13	9	13	6	1	0	2	0	1	0	1	1	5	0	5	2	4	0	0	2	4	3	3			TCGA-TP-A8TV-01A-11D-A41K-08	TCGA-TP-A8TV-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5e215fa-ef1d-4663-badb-152039afcbad	b6d5714c-04e4-4c50-aa90-47f20ab06b71	g.chr11:107535808T>A	ENST00000265840.7	+	12	1155	c.890T>A	c.(889-891)aTg>aAg	p.M297K	ELMOD1_ENST00000443271.2_Missense_Mutation_p.M289K|ELMOD1_ENST00000531234.1_Missense_Mutation_p.M291K	NM_018712.3	NP_061182.3	Q8N336	ELMD1_HUMAN	ELMO/CED-12 domain containing 1	297	ELMO. {ECO:0000255|PROSITE- ProRule:PRU00664}.				phagocytosis (GO:0006909)|positive regulation of GTPase activity (GO:0043547)	cytoskeleton (GO:0005856)	GTPase activator activity (GO:0005096)			endometrium(2)|large_intestine(5)|liver(2)|lung(7)|pancreas(2)|prostate(1)	19		Melanoma(852;0.000288)|Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00301)|all_epithelial(67;0.00304)|Breast(348;0.104)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)|Epithelial(105;0.00027)|all cancers(92;0.00481)		ATGGACATAATGGAATTTAAT	0.433																																						ENST00000265840.7																			0				endometrium(2)|large_intestine(5)|liver(2)|lung(7)|pancreas(2)|prostate(1)	19						c.(889-891)aTg>aAg		ELMO/CED-12 domain containing 1							135	140	138					11																	107535808		1916	4147	6063	SO:0001583	missense	55531				phagocytosis	cytoskeleton	GTPase activator activity	g.chr11:107535808T>A	AL359601	CCDS44723.1, CCDS44724.1	11q23.1	2012-10-15	2006-01-20		ENSG00000110675	ENSG00000110675			25334	protein-coding gene	gene with protein product		615456	"ELMO domain containing 1"			12477932	Standard	NM_018712		Approved	DKFZp547C176	uc010rvs.2	Q8N336	OTTHUMG00000166361	ENST00000265840.7:c.890T>A	11.37:g.107535808T>A	ENSP00000265840:p.Met297Lys					ELMOD1_ENST00000531234.1_Missense_Mutation_p.M291K|ELMOD1_ENST00000443271.2_Missense_Mutation_p.M289K	p.M297K	NM_018712.3	NP_061182.3	Q8N336	ELMD1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)|Epithelial(105;0.00027)|all cancers(92;0.00481)	12	1155	+		Melanoma(852;0.000288)|Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00301)|all_epithelial(67;0.00304)|Breast(348;0.104)	297			ELMO.		B4E167|G5E9S5|Q9NPW3	Missense_Mutation	SNP	ENST00000265840.7	37	c.890T>A	CCDS44723.1	.	.	.	.	.	.	.	.	.	.	T	25.3	4.628987	0.87560	.	.	ENSG00000110675	ENST00000531234;ENST00000265840;ENST00000443271	T;T;T	0.31769	1.48;1.48;1.48	6.04	6.04	0.98038	Engulfment/cell motility, ELMO (2);	0.037674	0.85682	D	0.000000	T	0.64271	0.2583	M	0.90595	3.13	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.81914	0.995;0.991	T	0.72181	-0.4368	10	0.87932	D	0	.	16.5885	0.84745	0.0:0.0:0.0:1.0	.	297;289	Q8N336;G5E9S5	ELMD1_HUMAN;.	K	291;297;289	ENSP00000433232:M291K;ENSP00000265840:M297K;ENSP00000412257:M289K	ENSP00000265840:M297K	M	+	2	0	ELMOD1	107041018	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.503000	0.81632	2.317000	0.78254	0.460000	0.39030	ATG		0.433	ELMOD1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389406.1	NM_018712		17	93	0	0	0	1	0	17	93					A	107535808	T	A	107535808	3	1	367	1	0	0	0	0	1	0	0	0	5068	1464	51	5	932	5	ELMOD1	11	107535808	Missense_Mutation	SNP	T	TCGA-TP-A8TV-01A-11D-A41K-08	50459496	107535808	27470708	31	18306											
KRT72	140807	broad.mit.edu	37	chr12	52981595	52981595	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttcagggcgcagtcccccCgctgttcagcgtcggcgatg	4	9	13	15	5	2	0	2	0	0	0	4	1	3	0	3	2	1	3	3	2	0	2	rs184630537		TCGA-TP-A8TV-01A-11D-A41K-08	TCGA-TP-A8TV-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5e215fa-ef1d-4663-badb-152039afcbad	b6d5714c-04e4-4c50-aa90-47f20ab06b71	g.chr12:52981595C>T	ENST00000537672.2	-	7	1140	c.1130G>A	c.(1129-1131)cGg>cAg	p.R377Q	KRT72_ENST00000293745.2_Missense_Mutation_p.R377Q|KRT72_ENST00000398066.3_Missense_Mutation_p.R189Q|KRT72_ENST00000354310.4_Missense_Mutation_p.R335Q	NM_001146225.1	NP_001139697.1	Q14CN4	K2C72_HUMAN	keratin 72	377	Coil 2.|Rod.					extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	36				BRCA - Breast invasive adenocarcinoma(357;0.195)		GCAGTCCCCCCGCTGTTCAGC	0.627													C|||	1	0.000199681	0	0	5008	,	,		19712	0		0.001	False		,,,				2504	0					ENST00000293745.2																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	36						c.(1129-1131)cGg>cAg		keratin 72							48	46	47					12																	52981595		2203	4300	6503	SO:0001583	missense	140807					keratin filament	structural molecule activity	g.chr12:52981595C>T	AY033495	CCDS8833.1, CCDS53795.1	12q13.13	2013-06-25			ENSG00000170486	ENSG00000170486		"-", "Intermediate filaments type II, keratins (basic)"	28932	protein-coding gene	gene with protein product		608246				12648212, 11703281, 16831889	Standard	NM_080747		Approved	K6IRS2, KRT6IRS2, KRT6, K6irs	uc001saq.2	Q14CN4	OTTHUMG00000169744	ENST00000537672.2:c.1130G>A	12.37:g.52981595C>T	ENSP00000441160:p.Arg377Gln					KRT72_ENST00000354310.4_Missense_Mutation_p.R335Q|KRT72_ENST00000398066.3_Missense_Mutation_p.R189Q|KRT72_ENST00000537672.2_Missense_Mutation_p.R377Q	p.R377Q	NM_080747.2	NP_542785.1	Q14CN4	K2C72_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.195)	7	1215	-			377			Coil 2.|Rod.		B4DEI8|H9KV51|Q8NA87|Q8WWY9|Q8WWZ0	Missense_Mutation	SNP	ENST00000537672.2	37	c.1130G>A	CCDS8833.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	16.19	3.053046	0.55218	.	.	ENSG00000170486	ENST00000537672;ENST00000293745;ENST00000354310;ENST00000398066	D;D;D;D	0.89875	-2.58;-2.58;-2.58;-2.58	4.92	3.1	0.35709	Filament (1);	0.132643	0.33813	N	0.004536	D	0.90635	0.7063	M	0.84326	2.69	0.34984	D	0.75432	D;D	0.55800	0.973;0.973	P;P	0.50537	0.643;0.643	D	0.91001	0.4842	10	0.22706	T	0.39	.	12.0457	0.53479	0.0:0.8621:0.0:0.1379	.	335;377	B4DEI8;Q14CN4	.;K2C72_HUMAN	Q	377;377;335;189	ENSP00000441160:R377Q;ENSP00000293745:R377Q;ENSP00000346269:R335Q;ENSP00000446151:R189Q	ENSP00000293745:R377Q	R	-	2	0	KRT72	51267862	0.001000	0.12720	0.708000	0.30435	0.002000	0.02628	0.754000	0.26390	0.747000	0.32809	-0.806000	0.03193	CGG		0.627	KRT72-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405693.1	NM_080747		4	40	0	0	0	1	0	4	40					T	52981595	C	T	52981595	3	4	367	1	0	0	0	0	1	0	0	0	8485	652	23	2	417	2	KRT72	12	52981595	Missense_Mutation	SNP	C	TCGA-TP-A8TV-01A-11D-A41K-08		52981595	80870300	32	18307											
ZMYM5	9205	broad.mit.edu	37	chr13	20398825	20398825	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cattttcatttttcagttgaTtttttccttccccaaagagt	8	20	4	9	0	2	2	2	1	0	1	4	2	4	2	3	0	0	1	3	0	1	9			TCGA-TP-A8TV-01A-11D-A41K-08	TCGA-TP-A8TV-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5e215fa-ef1d-4663-badb-152039afcbad	b6d5714c-04e4-4c50-aa90-47f20ab06b71	g.chr13:20398825T>C	ENST00000337963.4	-	8	2066	c.1802A>G	c.(1801-1803)aAt>aGt	p.N601S		NM_001142684.1	NP_001136156.1	Q9UJ78	ZMYM5_HUMAN	zinc finger, MYM-type 5	601						nucleus (GO:0005634)	zinc ion binding (GO:0008270)			kidney(1)|large_intestine(5)|lung(9)	15		all_cancers(29;2.96e-22)|all_epithelial(30;3.76e-20)|all_lung(29;4.38e-20)|Lung NSC(5;5.8e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.61e-05)|Epithelial(112;4.89e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00171)|Lung(94;0.00942)|LUSC - Lung squamous cell carcinoma(192;0.0431)		tttcagttgattttttccttc	0.333																																						ENST00000337963.4																			0				kidney(1)|large_intestine(5)|lung(9)	15						c.(1801-1803)aAt>aGt		zinc finger, MYM-type 5							40	32	34					13																	20398825		1567	3581	5148	SO:0001583	missense	9205					nucleus	zinc ion binding	g.chr13:20398825T>C	AF161535	CCDS31942.1, CCDS31943.1	13q12	2013-01-08	2005-09-12	2005-09-12	ENSG00000132950	ENSG00000132950		"Zinc fingers, MYM type"	13029	protein-coding gene	gene with protein product			"zinc finger protein 237"	ZNF237			Standard	NM_001039650		Approved	ZNF198L1, MYM	uc010tcn.1	Q9UJ78	OTTHUMG00000016504	ENST00000337963.4:c.1802A>G	13.37:g.20398825T>C	ENSP00000337034:p.Asn601Ser						p.N601S	NM_001142684.1	NP_001136156.1	Q9UJ78	ZMYM5_HUMAN		all cancers(112;1.61e-05)|Epithelial(112;4.89e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00171)|Lung(94;0.00942)|LUSC - Lung squamous cell carcinoma(192;0.0431)	8	2066	-		all_cancers(29;2.96e-22)|all_epithelial(30;3.76e-20)|all_lung(29;4.38e-20)|Lung NSC(5;5.8e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)	601					B2R6V1|Q5T6E1|Q5T6E2|Q5T6E4|Q96IY6|Q9NZY5|Q9UBW0|Q9UJ77	Missense_Mutation	SNP	ENST00000337963.4	37	c.1802A>G		.	.	.	.	.	.	.	.	.	.	T	11.21	1.572529	0.28092	.	.	ENSG00000132950	ENST00000337963;ENST00000502168	T;T	0.17054	2.3;2.3	2.89	2.89	0.33648	Zinc finger, TTF-type (1);	0.311519	0.30732	N	0.008993	T	0.21550	0.0519	L	0.36672	1.1	0.26821	N	0.968793	D	0.63880	0.993	D	0.70227	0.968	T	0.07139	-1.0788	10	0.06891	T	0.86	.	7.598	0.28058	0.0:0.0:0.0:1.0	.	601	Q9UJ78	ZMYM5_HUMAN	S	601;591	ENSP00000337034:N601S;ENSP00000445779:N591S	ENSP00000337034:N601S	N	-	2	0	ZMYM5	19296825	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	2.838000	0.48199	1.538000	0.49270	0.455000	0.32223	AAT		0.333	ZMYM5-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_014242		3	13	0	0	0	1	0	3	13					C	20398825	T	C	20398825	3	2	367	1	0	0	0	0	1	0	0	0	17700	1493	52	4	211	4	ZMYM5	13	20398825	Missense_Mutation	SNP	T	TCGA-TP-A8TV-01A-11D-A41K-08		20398825	94771053	33	18308											
FANCM	57697	broad.mit.edu	37	chr14	45639819	45639819	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaaagtagcctaaagaaagAttggttcttatcagaagaag	17	9	10	5	0	2	4	1	0	1	4	2	4	2	4	1	1	1	3	1	1	8	5			TCGA-TP-A8TV-01A-11D-A41K-08	TCGA-TP-A8TV-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5e215fa-ef1d-4663-badb-152039afcbad	b6d5714c-04e4-4c50-aa90-47f20ab06b71	g.chr14:45639819A>T	ENST00000267430.5	+	12	2115	c.2030A>T	c.(2029-2031)gAt>gTt	p.D677V	FANCM_ENST00000542564.2_Missense_Mutation_p.D651V	NM_020937.2	NP_065988.1	Q8IYD8	FANCM_HUMAN	Fanconi anemia, complementation group M	677					DNA repair (GO:0006281)|replication fork processing (GO:0031297)|resolution of meiotic recombination intermediates (GO:0000712)	FANCM-MHF complex (GO:0071821)|Fanconi anaemia nuclear complex (GO:0043240)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|nuclease activity (GO:0004518)			breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	85						CTAAAGAAAGATTGGTTCTTA	0.299								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																													ENST00000267430.5																			0				breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	85						c.(2029-2031)gAt>gTt	Involved in tolerance or repair of DNA crosslinks	Fanconi anemia, complementation group M							48	52	51					14																	45639819		2202	4299	6501	SO:0001583	missense	57697	Fanconi Anemia	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	DNA repair	Fanconi anaemia nuclear complex	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|nuclease activity|protein binding	g.chr14:45639819A>T	AK001672	CCDS32070.1	14q21.3	2014-09-17	2005-09-01	2005-09-01		ENSG00000187790		"Fanconi anemia, complementation groups"	23168	protein-coding gene	gene with protein product		609644	"KIAA1596"	KIAA1596		10997877, 16116422	Standard	NM_020937		Approved	FAAP250	uc001wwd.4	Q8IYD8		ENST00000267430.5:c.2030A>T	14.37:g.45639819A>T	ENSP00000267430:p.Asp677Val					FANCM_ENST00000542564.2_Missense_Mutation_p.D651V	p.D677V	NM_020937.2	NP_065988.1	Q8IYD8	FANCM_HUMAN			12	2115	+			677					B2RTQ9|Q3YFH9|Q8N9X6|Q9HCH6	Missense_Mutation	SNP	ENST00000267430.5	37	c.2030A>T	CCDS32070.1	.	.	.	.	.	.	.	.	.	.	A	13.01	2.110453	0.37242	.	.	ENSG00000187790	ENST00000267430;ENST00000542564;ENST00000556250	T;T;T	0.25085	2.59;2.55;1.82	5.35	0.133	0.14766	.	1.530840	0.03024	N	0.151107	T	0.35008	0.0917	M	0.64997	1.995	0.35428	D	0.793807	P;P	0.50156	0.932;0.932	P;B	0.48454	0.578;0.388	T	0.43909	-0.9362	10	0.56958	D	0.05	.	6.5231	0.22287	0.5756:0.1334:0.291:0.0	.	651;677	B2RTQ9;Q8IYD8	.;FANCM_HUMAN	V	677;651;193	ENSP00000267430:D677V;ENSP00000442493:D651V;ENSP00000452033:D193V	ENSP00000267430:D677V	D	+	2	0	FANCM	44709569	0.978000	0.34361	0.930000	0.37139	0.825000	0.46686	0.757000	0.26433	0.333000	0.23563	-0.379000	0.06801	GAT		0.299	FANCM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410474.1	XM_048128		5	44	0	0	0	1	0	5	44					T	45639819	A	T	45639819	3	4	367	1	0	0	0	0	1	0	0	0	5671	333	12	5	2076	5	FANCM	14	45639819	Missense_Mutation	SNP	A	TCGA-TP-A8TV-01A-11D-A41K-08		45639819	61709721	34	18309											
SMOC1	64093	broad.mit.edu	37	chr14	70420250	70420250	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aggatggctcctttacccagGtgaggcctcggacaatcctc	8	9	11	13	1	0	1	0	1	0	0	4	3	2	3	4	5	1	1	4	5	2	2			TCGA-TP-A8TV-01A-11D-A41K-08	TCGA-TP-A8TV-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5e215fa-ef1d-4663-badb-152039afcbad	b6d5714c-04e4-4c50-aa90-47f20ab06b71	g.chr14:70420250G>A	ENST00000381280.4	+	3	631		c.e3+1		SMOC1_ENST00000361956.3_Splice_Site	NM_001034852.2|NM_022137.5	NP_001030024.1|NP_071420.1	Q9H4F8	SMOC1_HUMAN	SPARC related modular calcium binding 1						cell differentiation (GO:0030154)|extracellular matrix organization (GO:0030198)|eye development (GO:0001654)|limb development (GO:0060173)|positive regulation of cell-substrate adhesion (GO:0010811)|regulation of osteoblast differentiation (GO:0045667)|signal transduction (GO:0007165)	basement membrane (GO:0005604)	calcium ion binding (GO:0005509)|extracellular matrix binding (GO:0050840)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	21				all cancers(60;0.00417)|BRCA - Breast invasive adenocarcinoma(234;0.0119)|OV - Ovarian serous cystadenocarcinoma(108;0.028)		CTTTACCCAGGTGAGGCCTCG	0.617																																						ENST00000381280.4																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	21						c.e3+1		SPARC related modular calcium binding 1							98	87	91					14																	70420250		2203	4300	6503	SO:0001630	splice_region_variant	64093				cell differentiation|eye development|limb development|regulation of osteoblast differentiation|signal transduction	basement membrane	calcium ion binding	g.chr14:70420250G>A	AJ249900	CCDS9798.1, CCDS32110.1	14q24.1	2010-08-05			ENSG00000198732	ENSG00000198732			20318	protein-coding gene	gene with protein product		608488				12130637	Standard	NM_001034852		Approved		uc001xlt.2	Q9H4F8		ENST00000381280.4:c.378+1G>A	14.37:g.70420250G>A						SMOC1_ENST00000361956.3_Splice_Site		NM_001034852.2|NM_022137.5	NP_001030024.1|NP_071420.1	Q9H4F8	SMOC1_HUMAN		all cancers(60;0.00417)|BRCA - Breast invasive adenocarcinoma(234;0.0119)|OV - Ovarian serous cystadenocarcinoma(108;0.028)	3	631	+								A8K1S3|B2R7P5|Q96F78	Splice_Site	SNP	ENST00000381280.4	37		CCDS9798.1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.256307	0.80246	.	.	ENSG00000198732	ENST00000361956;ENST00000381280	.	.	.	5.36	5.36	0.76844	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.0713	0.93138	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SMOC1	69490003	1.000000	0.71417	1.000000	0.80357	0.823000	0.46562	9.405000	0.97313	2.484000	0.83849	0.591000	0.81541	.		0.617	SMOC1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000412467.1		Intron	22	25	0	0	0	1	0	22	25					A	70420250	G	A	70420250	5	1	367	1	0	0	0	0	0	0	1	0	14801	1275	44	3	389	3	SMOC1	14	70420250	Splice_Site	SNP	G	TCGA-TP-A8TV-01A-11D-A41K-08	24780431	70420250	36929290	35	18310											
EIF2AK4	440275	broad.mit.edu	37	chr15	40259951	40259951	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caatgctctgccttataaaaCggggaagaaaggagatgttt	14	10	11	6	1	1	2	0	0	1	2	1	4	1	3	1	3	3	2	1	3	6	3			TCGA-TP-A8TV-01A-11D-A41K-08	TCGA-TP-A8TV-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5e215fa-ef1d-4663-badb-152039afcbad	b6d5714c-04e4-4c50-aa90-47f20ab06b71	g.chr15:40259951C>T	ENST00000263791.5	+	9	1467	c.1424C>T	c.(1423-1425)aCg>aTg	p.T475M	EIF2AK4_ENST00000382727.2_Missense_Mutation_p.T475M|EIF2AK4_ENST00000559624.1_Missense_Mutation_p.T475M	NM_001013703.2	NP_001013725.2	Q9P2K8	E2AK4_HUMAN	eukaryotic translation initiation factor 2 alpha kinase 4	475	Protein kinase 1. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular response to starvation (GO:0009267)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of translation (GO:0017148)|protein phosphorylation (GO:0006468)|regulation of translational initiation (GO:0006446)|regulation of translational initiation in response to stress (GO:0043558)	cytosolic ribosome (GO:0022626)	ATP binding (GO:0005524)|eukaryotic translation initiation factor 2alpha kinase activity (GO:0004694)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)	40		all_cancers(109;1.05e-19)|all_epithelial(112;4.38e-17)|Lung NSC(122;1.09e-12)|all_lung(180;3.56e-11)|Melanoma(134;0.0575)|Ovarian(310;0.0826)|Colorectal(260;0.119)		GBM - Glioblastoma multiforme(113;5.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0616)		CCTTATAAAACGGGGAAGAAA	0.493																																						ENST00000263791.5																			0				NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)	40						c.(1423-1425)aCg>aTg		eukaryotic translation initiation factor 2 alpha kinase 4							129	122	124					15																	40259951		1974	4163	6137	SO:0001583	missense	440275				translation	cytosolic ribosome	aminoacyl-tRNA ligase activity|ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|protein homodimerization activity	g.chr15:40259951C>T	AB037759	CCDS42016.1	15q13.3	2008-08-18				ENSG00000128829			19687	protein-coding gene	gene with protein product		609280				10504407	Standard	XM_005254392		Approved	GCN2, KIAA1338	uc001zkm.1	Q9P2K8		ENST00000263791.5:c.1424C>T	15.37:g.40259951C>T	ENSP00000263791:p.Thr475Met					EIF2AK4_ENST00000382727.2_Missense_Mutation_p.T475M|EIF2AK4_ENST00000559624.1_Missense_Mutation_p.T475M	p.T475M	NM_001013703.2	NP_001013725.2	Q9P2K8	E2AK4_HUMAN		GBM - Glioblastoma multiforme(113;5.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0616)	9	1467	+		all_cancers(109;1.05e-19)|all_epithelial(112;4.38e-17)|Lung NSC(122;1.09e-12)|all_lung(180;3.56e-11)|Melanoma(134;0.0575)|Ovarian(310;0.0826)|Colorectal(260;0.119)	475			Protein kinase 1.		C9JEC4|Q69YL7|Q6DC97|Q96GN6|Q9H5K1|Q9NSQ3|Q9NSZ5|Q9UJ56	Missense_Mutation	SNP	ENST00000263791.5	37	c.1424C>T	CCDS42016.1	.	.	.	.	.	.	.	.	.	.	C	18.71	3.682162	0.68042	.	.	ENSG00000128829	ENST00000263791;ENST00000382727	T;T	0.73681	-0.77;-0.77	5.63	4.69	0.59074	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.206560	0.44097	D	0.000482	T	0.74397	0.3711	L	0.28400	0.85	0.31260	N	0.692958	D;D	0.61697	0.99;0.987	P;P	0.56398	0.797;0.681	T	0.75698	-0.3227	10	0.34782	T	0.22	-10.612	15.1109	0.72355	0.0:0.7317:0.2683:0.0	.	475;475	Q9P2K8;Q9P2K8-3	E2AK4_HUMAN;.	M	475	ENSP00000263791:T475M;ENSP00000372174:T475M	ENSP00000263791:T475M	T	+	2	0	EIF2AK4	38047243	0.999000	0.42202	0.906000	0.35671	0.994000	0.84299	3.948000	0.56660	1.468000	0.48064	0.650000	0.86243	ACG		0.493	EIF2AK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418395.1			23	48	0	0	0	1	0	23	48					T	40259951	C	T	40259951	3	4	367	1	0	0	0	0	1	0	0	0	4999	536	19	1	1458	1	EIF2AK4	15	40259951	Missense_Mutation	SNP	C	TCGA-TP-A8TV-01A-11D-A41K-08		40259951	62271441	36	18311											
ZNF598	90850	broad.mit.edu	37	chr16	2049812	2049812	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tttagagggttggatggaggCcagccccagtgtggaggaga	9	8	18	6	0	0	2	0	0	0	2	0	6	0	5	3	6	1	1	3	6	1	3			TCGA-TP-A8TV-01A-11D-A41K-08	TCGA-TP-A8TV-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5e215fa-ef1d-4663-badb-152039afcbad	b6d5714c-04e4-4c50-aa90-47f20ab06b71	g.chr16:2049812C>A	ENST00000563630.1	-	9	1815	c.1573G>T	c.(1573-1575)Gcc>Tcc	p.A525S	ZNF598_ENST00000431526.1_Missense_Mutation_p.A580S|ZNF598_ENST00000562103.1_Missense_Mutation_p.A525S|AC005606.15_ENST00000567515.1_lincRNA			Q86UK7	ZN598_HUMAN	zinc finger protein 598	580							poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|lung(7)|skin(1)|urinary_tract(1)	16						TGGATGGAGGCCAGCCCCAGT	0.667																																						ENST00000563630.1																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|lung(7)|skin(1)|urinary_tract(1)	16						c.(1573-1575)Gcc>Tcc		zinc finger protein 598							14	17	16					16																	2049812		1922	4123	6045	SO:0001583	missense	90850					intracellular	zinc ion binding	g.chr16:2049812C>A	BC029270		16p13.3	2008-05-02				ENSG00000167962		"Zinc fingers, C2H2-type"	28079	protein-coding gene	gene with protein product							Standard	NM_178167		Approved	FLJ00086	uc002cof.2	Q86UK7		ENST00000563630.1:c.1573G>T	16.37:g.2049812C>A	ENSP00000455882:p.Ala525Ser					ZNF598_ENST00000562103.1_Missense_Mutation_p.A525S|ZNF598_ENST00000431526.1_Missense_Mutation_p.A580S	p.A525S			Q86UK7	ZN598_HUMAN			9	1815	-			580					Q8IW49|Q8N3D9|Q96FG3|Q9H7J3	Missense_Mutation	SNP	ENST00000563630.1	37	c.1573G>T		.	.	.	.	.	.	.	.	.	.	.	4.159	0.028031	0.08054	.	.	ENSG00000167962	ENST00000431526	T	0.15834	2.39	4.39	3.36	0.38483	.	0.961429	0.08763	N	0.897420	T	0.09774	0.0240	N	0.21194	0.64	0.09310	N	0.999999	B	0.20988	0.05	B	0.17979	0.02	T	0.35943	-0.9768	10	0.06891	T	0.86	-7.5205	6.6123	0.22759	0.2698:0.5801:0.1501:0.0	.	580	Q86UK7	ZN598_HUMAN	S	580	ENSP00000411409:A580S	ENSP00000411409:A580S	A	-	1	0	ZNF598	1989813	0.156000	0.22821	0.016000	0.15963	0.015000	0.08874	1.554000	0.36266	2.288000	0.76882	0.650000	0.86243	GCC		0.667	ZNF598-001	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000434439.1	NM_178167		6	10	1	0	2.0095e-06	1	2.23638e-06	6	10					A	2049812	C	A	2049812	3	1	367	1	0	0	0	0	1	0	0	0	18025	739	26	5	992	5	ZNF598	16	2049812	Missense_Mutation	SNP	C	TCGA-TP-A8TV-01A-11D-A41K-08		2049812	88304941	37	18312											
DHX38	9785	broad.mit.edu	37	chr16	72134479	72134479	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccctttctggatgggcgcAttgtcttcaccaagcaggtg	6	12	11	12	1	3	0	1	0	2	0	4	1	4	1	2	3	1	2	2	3	1	3			TCGA-TP-A8TV-01A-11D-A41K-08	TCGA-TP-A8TV-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5e215fa-ef1d-4663-badb-152039afcbad	b6d5714c-04e4-4c50-aa90-47f20ab06b71	g.chr16:72134479A>C	ENST00000268482.3	+	9	1770	c.1261A>C	c.(1261-1263)Att>Ctt	p.I421L	DHX38_ENST00000536867.1_Intron	NM_014003.3	NP_054722.2	Q92620	PRP16_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 38	421					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)			endometrium(5)|kidney(1)|large_intestine(16)|lung(15)|pancreas(1)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	48		Ovarian(137;0.125)				GGATGGGCGCATTGTCTTCAC	0.587																																					Melanoma(97;711 1442 7855 13832 28836)	ENST00000268482.3																			0				endometrium(5)|kidney(1)|large_intestine(16)|lung(15)|pancreas(1)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	48						c.(1261-1263)Att>Ctt		DEAH (Asp-Glu-Ala-His) box polypeptide 38							139	109	119					16																	72134479		2198	4300	6498	SO:0001583	missense	9785				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|nucleoplasm	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding	g.chr16:72134479A>C	AF038391	CCDS10907.1	16q22	2008-02-05	2003-06-13	2003-06-20	ENSG00000140829	ENSG00000140829		"DEAH-boxes"	17211	protein-coding gene	gene with protein product		605584	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 38"	DDX38		9524131, 9039502	Standard	NM_014003		Approved	PRP16, KIAA0224, hPrp16, PRPF16	uc002fcb.3	Q92620	OTTHUMG00000137596	ENST00000268482.3:c.1261A>C	16.37:g.72134479A>C	ENSP00000268482:p.Ile421Leu					DHX38_ENST00000536867.1_Intron	p.I421L	NM_014003.3	NP_054722.2	Q92620	PRP16_HUMAN			9	1770	+		Ovarian(137;0.125)	421					B4DVG8|D3DWS7|O75212|Q96HN7	Missense_Mutation	SNP	ENST00000268482.3	37	c.1261A>C	CCDS10907.1	.	.	.	.	.	.	.	.	.	.	A	17.60	3.431050	0.62844	.	.	ENSG00000140829	ENST00000268482	T	0.49432	0.78	5.35	5.35	0.76521	.	0.000000	0.85682	D	0.000000	T	0.44307	0.1287	L	0.49513	1.565	0.80722	D	1	B	0.20780	0.048	B	0.16289	0.015	T	0.33266	-0.9875	10	0.44086	T	0.13	.	15.36	0.74464	1.0:0.0:0.0:0.0	.	421	Q92620	PRP16_HUMAN	L	421	ENSP00000268482:I421L	ENSP00000268482:I421L	I	+	1	0	DHX38	70691980	1.000000	0.71417	0.993000	0.49108	0.957000	0.61999	8.869000	0.92326	2.026000	0.59711	0.459000	0.35465	ATT		0.587	DHX38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269004.3	NM_014003		13	30	0	0	0	1	0	13	30					C	72134479	A	C	72134479	3	2	367	1	0	0	0	0	1	0	0	0	4511	217	8	5	1291	5	DHX38	16	72134479	Missense_Mutation	SNP	A	TCGA-TP-A8TV-01A-11D-A41K-08	70084667	72134479	18220274	38	18313											
CMIP	80790	broad.mit.edu	37	chr16	81740629	81740630	+	Frame_Shift_Del	DEL	TC	TC	-																															tcttgtgcagccatgaagagTctctgcagtttaaacatgaa																										TCGA-TP-A8TV-01A-11D-A41K-08	TCGA-TP-A8TV-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5e215fa-ef1d-4663-badb-152039afcbad	b6d5714c-04e4-4c50-aa90-47f20ab06b71	g.chr16:81740629_81740630delTC	ENST00000537098.3	+	20	2280_2281	c.2208_2209delTC	c.(2206-2211)agtctcfs	p.L737fs	CMIP_ENST00000398040.4_Frame_Shift_Del_p.L584fs|CMIP_ENST00000539778.2_Frame_Shift_Del_p.L643fs|CMIP_ENST00000566513.1_3'UTR	NM_198390.2	NP_938204.2	Q8IY22	CMIP_HUMAN	c-Maf inducing protein	737						cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(5)|kidney(1)|lung(7)	13						CCATGAAGAGTCTCTGCAGTTT	0.515																																						ENST00000537098.3																			0				endometrium(5)|kidney(1)|lung(7)	13						c.(2206-2211)agtcfs		c-Maf inducing protein																																				SO:0001589	frameshift_variant	80790					cytoplasm|nucleus		g.chr16:81740629_81740630delTC	AB051481	CCDS54044.1, CCDS54045.1	16q23	2011-08-04			ENSG00000153815	ENSG00000153815			24319	protein-coding gene	gene with protein product		610112				11214970, 12939343	Standard	NM_030629		Approved		uc002fgp.3	Q8IY22		ENST00000537098.3:c.2208_2209delTC	16.37:g.81740631_81740632delTC	ENSP00000446100:p.Leu737fs					CMIP_ENST00000566513.1_3'UTR|CMIP_ENST00000539778.2_Frame_Shift_Del_p.SL642fs|CMIP_ENST00000398040.4_Frame_Shift_Del_p.SL583fs	p.SL736fs	NM_198390.2	NP_938204.2	Q8IY22	CMIP_HUMAN			20	2280_2281	+			702					Q9C0G9	Frame_Shift_Del	DEL	ENST00000537098.3	37	c.2208_2209delTC	CCDS54044.1																																																																																				0.515	CMIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432399.2	NM_030629		20	141						20	141	---	---	---	---	-	81740630	TC	-	81740629	7	5	367	1	0	1	0	1	0	0	0	0	3578	1664	58	0	2308	0	CMIP	16	81740629	Frame_Shift_Del	DEL	TC	TCGA-TP-A8TV-01A-11D-A41K-08	9606150	81740629	8614124	39	18314											
ZNF778	197320	broad.mit.edu	37	chr16	89294750	89294750	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tgggaaagccttccgtgcctCctctcacctgcataaacatg	9	10	8	14	1	1	0	1	0	1	0	4	1	3	1	5	1	4	1	5	1	3	2			TCGA-TP-A8TV-01A-11D-A41K-08	TCGA-TP-A8TV-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5e215fa-ef1d-4663-badb-152039afcbad	b6d5714c-04e4-4c50-aa90-47f20ab06b71	g.chr16:89294750C>T	ENST00000433976.2	+	6	2302	c.1970C>T	c.(1969-1971)tCc>tTc	p.S657F	ZNF778_ENST00000306502.6_Missense_Mutation_p.S615F|RP11-46C24.6_ENST00000563182.1_RNA	NM_001201407.1|NM_182531.3	NP_001188336.1|NP_872337.2	Q96MU6	ZN778_HUMAN	zinc finger protein 778	657					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|prostate(2)|skin(2)	24				BRCA - Breast invasive adenocarcinoma(80;0.0269)		TTCCGTGCCTCCTCTCACCTG	0.428																																						ENST00000433976.2																			0				endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|prostate(2)|skin(2)	24						c.(1969-1971)tCc>tTc		zinc finger protein 778							56	60	58					16																	89294750		2181	4293	6474	SO:0001583	missense	197320				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:89294750C>T	AK056437	CCDS45550.1, CCDS73928.1	16q24.3	2014-09-17			ENSG00000170100	ENSG00000170100		"Zinc fingers, C2H2-type", "-"	26479	protein-coding gene	gene with protein product							Standard	NM_182531		Approved	FLJ31875	uc021tms.1	Q96MU6		ENST00000433976.2:c.1970C>T	16.37:g.89294750C>T	ENSP00000405289:p.Ser657Phe					ZNF778_ENST00000306502.6_Missense_Mutation_p.S615F|RP11-46C24.6_ENST00000563182.1_RNA	p.S657F	NM_001201407.1|NM_182531.3	NP_001188336.1|NP_872337.2	Q96MU6	ZN778_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0269)	6	2302	+			657					Q08AG0	Missense_Mutation	SNP	ENST00000433976.2	37	c.1970C>T	CCDS45550.1	.	.	.	.	.	.	.	.	.	.	C	10.58	1.389678	0.25118	.	.	ENSG00000170100	ENST00000433976;ENST00000306502	T;T	0.08008	3.14;3.14	1.13	-0.119	0.13543	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.12050	0.0293	L	0.48260	1.515	0.09310	N	1	P;P	0.51537	0.946;0.91	P;P	0.54026	0.74;0.554	T	0.27673	-1.0067	9	0.25106	T	0.35	.	6.6229	0.22812	0.0:0.6972:0.3028:0.0	.	615;657	Q96MU6-2;Q96MU6	.;ZN778_HUMAN	F	657;615	ENSP00000405289:S657F;ENSP00000305203:S615F	ENSP00000305203:S615F	S	+	2	0	ZNF778	87822251	0.001000	0.12720	0.002000	0.10522	0.142000	0.21351	0.878000	0.28126	-0.005000	0.14395	0.558000	0.71614	TCC		0.428	ZNF778-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430383.1	NM_182531		7	16	0	0	0	1	0	7	16					T	89294750	C	T	89294750	3	4	367	1	0	0	0	0	1	0	0	0	18148	855	30	3	1988	3	ZNF778	16	89294750	Missense_Mutation	SNP	C	TCGA-TP-A8TV-01A-11D-A41K-08	7554121	89294750	1060003	40	18315											
IKZF3	22806	broad.mit.edu	37	chr17	37947800	37947800	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggttacctttctgagtaaaaGatgccccacactgattacac	12	11	7	11	0	1	3	0	2	1	1	1	3	1	3	3	1	3	2	3	1	4	4			TCGA-TP-A8TV-01A-11D-A41K-08	TCGA-TP-A8TV-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5e215fa-ef1d-4663-badb-152039afcbad	b6d5714c-04e4-4c50-aa90-47f20ab06b71	g.chr17:37947800G>C	ENST00000346872.3	-	5	522	c.461C>G	c.(460-462)tCt>tGt	p.S154C	IKZF3_ENST00000377952.2_Intron|IKZF3_ENST00000439167.2_Missense_Mutation_p.S120C|IKZF3_ENST00000439016.2_Intron|IKZF3_ENST00000394189.2_Intron|IKZF3_ENST00000377944.3_Intron|IKZF3_ENST00000346243.3_Missense_Mutation_p.S154C|IKZF3_ENST00000467757.1_Intron|IKZF3_ENST00000351680.3_Missense_Mutation_p.S154C|IKZF3_ENST00000377945.3_Intron|IKZF3_ENST00000350532.3_Missense_Mutation_p.S154C|IKZF3_ENST00000377958.2_Missense_Mutation_p.S67C|IKZF3_ENST00000535189.1_Missense_Mutation_p.S120C	NM_012481.4	NP_036613.2	Q9UKT9	IKZF3_HUMAN	IKAROS family zinc finger 3 (Aiolos)	154					B cell activation (GO:0042113)|mesoderm development (GO:0007498)|regulation of apoptotic process (GO:0042981)|regulation of B cell differentiation (GO:0045577)|regulation of B cell proliferation (GO:0030888)|regulation of lymphocyte differentiation (GO:0045619)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(6)|large_intestine(4)|liver(1)|lung(13)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	42	Breast(7;4.5e-103)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			CTGAGTAAAAGATGCCCCACA	0.433																																						ENST00000346872.3																			0				NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(6)|large_intestine(4)|liver(1)|lung(13)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	42						c.(460-462)tCt>tGt		IKAROS family zinc finger 3 (Aiolos)							142	135	137					17																	37947800		2203	4300	6503	SO:0001583	missense	22806				B cell activation|mesoderm development|regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr17:37947800G>C	AF129512	CCDS11346.1, CCDS11347.1, CCDS11348.1, CCDS11349.1, CCDS11350.1, CCDS11351.1, CCDS58539.1, CCDS58540.1, CCDS58541.1, CCDS58542.1, CCDS58543.1, CCDS58544.1, CCDS58545.1, CCDS74055.1	17q11.2	2013-01-08	2006-08-25	2006-08-25	ENSG00000161405	ENSG00000161405		"Zinc fingers, C2H2-type", "IKAROS zinc fingers"	13178	protein-coding gene	gene with protein product		606221	"zinc finger protein, subfamily 1A, 3 (Aiolos)"	ZNFN1A3		9155026, 10552935	Standard	NM_012481		Approved	Aiolos	uc002hsu.4	Q9UKT9	OTTHUMG00000133250	ENST00000346872.3:c.461C>G	17.37:g.37947800G>C	ENSP00000344544:p.Ser154Cys					IKZF3_ENST00000439167.2_Missense_Mutation_p.S120C|IKZF3_ENST00000439016.2_Intron|IKZF3_ENST00000394189.2_Intron|IKZF3_ENST00000377945.3_Intron|IKZF3_ENST00000377958.2_Missense_Mutation_p.S67C|IKZF3_ENST00000351680.3_Missense_Mutation_p.S154C|IKZF3_ENST00000377952.2_Intron|IKZF3_ENST00000350532.3_Missense_Mutation_p.S154C|IKZF3_ENST00000346243.3_Missense_Mutation_p.S154C|IKZF3_ENST00000535189.1_Missense_Mutation_p.S120C|IKZF3_ENST00000467757.1_Intron|IKZF3_ENST00000377944.3_Intron	p.S154C	NM_012481.4	NP_036613.2	Q9UKT9	IKZF3_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)		5	522	-	Breast(7;4.5e-103)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		154					B4DVV5|Q69BL6|Q69BL7|Q69BL8|Q69BL9|Q69BM0|Q69BM1|Q69BM2|Q69BM3|Q69BM5|Q8N574|Q8WWQ9|Q8WWR0|Q8WWR1|Q8WWR2|Q8WWR3	Missense_Mutation	SNP	ENST00000346872.3	37	c.461C>G	CCDS11346.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	28.7|28.7	4.942291|4.942291	0.92526|0.92526	.|.	.|.	ENSG00000161405|ENSG00000161405	ENST00000439167;ENST00000439016|ENST00000488188;ENST00000377958;ENST00000535189;ENST00000351680;ENST00000346243;ENST00000350532	.|T;T;T;T;T	.|0.44881	.|0.91;2.12;2.12;0.91;2.12	5.94|5.94	5.94|5.94	0.96194|0.96194	.|Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.|0.000000	.|0.56097	.|D	.|0.000029	T|T	0.61702|0.61702	0.2368|0.2368	L|L	0.45698|0.45698	1.435|1.435	0.80722|0.80722	D|D	1|1	.|D;D;D;D;D;D;D	.|0.89917	.|1.0;1.0;1.0;1.0;1.0;1.0;1.0	.|D;D;D;D;D;D;D	.|0.97110	.|0.999;1.0;0.999;0.999;0.999;0.997;1.0	T|T	0.60485|0.60485	-0.7254|-0.7254	5|10	.|0.72032	.|D	.|0.01	-14.5825|-14.5825	20.3736|20.3736	0.98901|0.98901	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|67;120;154;154;154;120;154	.|Q9UKT9-9;Q9UKT9-7;Q9UKT9-6;Q9UKT9-4;Q9UKT9-3;Q9UKT9-8;Q9UKT9	.|.;.;.;.;.;.;IKZF3_HUMAN	V|C	108|154;67;120;154;154;154	.|ENSP00000367194:S67C;ENSP00000438972:S120C;ENSP00000345622:S154C;ENSP00000341977:S154C;ENSP00000344471:S154C	.|ENSP00000341977:S154C	L|S	-|-	1|2	0|0	IKZF3|IKZF3	35201326|35201326	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	9.869000|9.869000	0.99810|0.99810	2.820000|2.820000	0.97059|0.97059	0.650000|0.650000	0.86243|0.86243	CTT|TCT		0.433	IKZF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257004.2	NM_012481		4	106	0	0	0	1	0	4	106					C	37947800	G	C	37947800	3	2	367	1	0	0	0	0	1	0	0	0	7616	942	33	5	1084	5	IKZF3	17	37947800	Missense_Mutation	SNP	G	TCGA-TP-A8TV-01A-11D-A41K-08		37947800	43247410	41	18316											
KRT24	192666	broad.mit.edu	37	chr17	38859719	38859719	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	agcctgaagctcccccaaaaCcaccccctactgagcagcta	12	5	6	18	0	0	2	0	2	0	0	1	2	1	2	6	0	6	3	6	0	5	2			TCGA-TP-A8TV-01A-11D-A41K-08	TCGA-TP-A8TV-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5e215fa-ef1d-4663-badb-152039afcbad	b6d5714c-04e4-4c50-aa90-47f20ab06b71	g.chr17:38859719C>A	ENST00000264651.2	-	1	283	c.227G>T	c.(226-228)gGt>gTt	p.G76V		NM_019016.2	NP_061889.2	Q2M2I5	K1C24_HUMAN	keratin 24	76	Gly-rich.|Head.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)	structural molecule activity (GO:0005198)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Breast(137;0.00526)				TCCCCCAAAACCACCCCCTAC	0.602																																					GBM(61;380 1051 14702 23642 31441)	ENST00000264651.2																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(226-228)gGt>gTt		keratin 24							48	62	57					17																	38859719		2203	4300	6503	SO:0001583	missense	192666					cytoplasm|intermediate filament	structural molecule activity	g.chr17:38859719C>A		CCDS11372.1	17q21.2	2013-06-25			ENSG00000167916	ENSG00000167916		"-", "Intermediate filaments type I, keratins (acidic)"	18527	protein-coding gene	gene with protein product		607742				16831889	Standard	NM_019016		Approved	FLJ20261, MGC138169, MGC138173	uc002hvd.3	Q2M2I5	OTTHUMG00000133372	ENST00000264651.2:c.227G>T	17.37:g.38859719C>A	ENSP00000264651:p.Gly76Val						p.G76V	NM_019016.2	NP_061889.2	Q2M2I5	K1C24_HUMAN			1	283	-		Breast(137;0.00526)	76			Gly-rich.|Head.		Q9NXG7	Missense_Mutation	SNP	ENST00000264651.2	37	c.227G>T	CCDS11372.1	.	.	.	.	.	.	.	.	.	.	C	11.64	1.698650	0.30142	.	.	ENSG00000167916	ENST00000264651	D	0.90620	-2.7	5.04	5.04	0.67666	.	.	.	.	.	D	0.89385	0.6700	M	0.66939	2.045	0.26725	N	0.970702	P	0.35745	0.518	B	0.32864	0.154	T	0.82780	-0.0288	9	0.30854	T	0.27	.	17.7473	0.88424	0.0:1.0:0.0:0.0	.	76	Q2M2I5	K1C24_HUMAN	V	76	ENSP00000264651:G76V	ENSP00000264651:G76V	G	-	2	0	KRT24	36113245	0.012000	0.17670	0.005000	0.12908	0.009000	0.06853	2.274000	0.43390	2.501000	0.84356	0.655000	0.94253	GGT		0.602	KRT24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257217.1	NM_019016		4	48	1	0	0.00024832	1	0.000263601	4	48					A	38859719	C	A	38859719	3	1	367	1	0	0	0	0	1	0	0	0	8461	507	18	5	1382	5	KRT24	17	38859719	Missense_Mutation	SNP	C	TCGA-TP-A8TV-01A-11D-A41K-08	911919	38859719	42335491	42	18317											
KRT25	147183	broad.mit.edu	37	chr17	38907296	38907296	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cgggctgaggttgtggctccGacatcctcagagatctgctg	6	10	14	11	2	2	2	1	1	1	1	4	4	4	2	2	3	1	4	2	3	0	1			TCGA-TP-A8TV-01A-11D-A41K-08	TCGA-TP-A8TV-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5e215fa-ef1d-4663-badb-152039afcbad	b6d5714c-04e4-4c50-aa90-47f20ab06b71	g.chr17:38907296G>A	ENST00000312150.4	-	5	927	c.867C>T	c.(865-867)gtC>gtT	p.V289V		NM_181534.3	NP_853512.1			keratin 25											endometrium(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(4)	16		Breast(137;0.00526)				TTGTGGCTCCGACATCCTCAG	0.483																																						ENST00000312150.4																			0				endometrium(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(4)	16						c.(865-867)gtC>gtT		keratin 25							94	91	92					17																	38907296		2203	4300	6503	SO:0001819	synonymous_variant	147183					cytoplasm|intermediate filament	structural molecule activity	g.chr17:38907296G>A	AK129503	CCDS11373.1	17q21.2	2013-01-16	2006-07-17	2006-07-17	ENSG00000204897	ENSG00000204897		"-", "Intermediate filaments type I, keratins (acidic)"	30839	protein-coding gene	gene with protein product			"keratin 25A"	KRT25A		16831889	Standard	NM_181534		Approved		uc002hve.3	Q7Z3Z0	OTTHUMG00000133373	ENST00000312150.4:c.867C>T	17.37:g.38907296G>A							p.V289V	NM_181534.3	NP_853512.1	Q7Z3Z0	K1C25_HUMAN			5	927	-		Breast(137;0.00526)	289			Coil 2.|Rod.			Silent	SNP	ENST00000312150.4	37	c.867C>T	CCDS11373.1																																																																																				0.483	KRT25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257218.1	NM_181534		4	57	0	0	0	1	0	4	57					A	38907296	G	A	38907296	2	1	367	1	0	0	0	0	0	0	0	1	8462	1045	37	2		2	KRT25	17	38907296	Silent	SNP	G	TCGA-TP-A8TV-01A-11D-A41K-08	47577	38907296	42287914	43	18318											
EFTUD2	9343	broad.mit.edu	37	chr17	42941093	42941093	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cggtgtaggtgtgctcaatcTtgggcttggcgcccaccttt	4	13	13	11	2	2	0	1	0	1	0	2	0	2	0	2	4	1	3	2	4	2	4			TCGA-TP-A8TV-01A-11D-A41K-08	TCGA-TP-A8TV-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5e215fa-ef1d-4663-badb-152039afcbad	b6d5714c-04e4-4c50-aa90-47f20ab06b71	g.chr17:42941093T>C	ENST00000426333.2	-	15	1640	c.1343A>G	c.(1342-1344)aAg>aGg	p.K448R	EFTUD2_ENST00000402521.3_Missense_Mutation_p.K413R|EFTUD2_ENST00000591382.1_Missense_Mutation_p.K448R|EFTUD2_ENST00000592576.1_Missense_Mutation_p.K438R	NM_001142605.1|NM_001258354.1|NM_004247.3	NP_001136077.1|NP_001245283.1|NP_004238.3	Q15029	U5S1_HUMAN	elongation factor Tu GTP binding domain containing 2	448					gene expression (GO:0010467)|GTP catabolic process (GO:0006184)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	Cajal body (GO:0015030)|catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	32		Prostate(33;0.109)				GTGCTCAATCTTGGGCTTGGC	0.557																																					Ovarian(10;65 485 10258 29980 30707)	ENST00000426333.2																			0				breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	32						c.(1342-1344)aAg>aGg		elongation factor Tu GTP binding domain containing 2							133	104	113					17																	42941093		2203	4300	6503	SO:0001583	missense	9343					Cajal body|catalytic step 2 spliceosome|cytoplasm|nuclear speck	GTP binding|GTPase activity|protein binding	g.chr17:42941093T>C	D21163	CCDS11489.1, CCDS45707.1, CCDS59295.1	17q21.31	2014-08-12			ENSG00000108883	ENSG00000108883			30858	protein-coding gene	gene with protein product	"U5 snRNP specific protein, 116 kD"	603892				9233818	Standard	NM_004247		Approved	U5-116KD, Snrp116, Snu114, SNRNP116	uc002ihn.2	Q15029	OTTHUMG00000179865	ENST00000426333.2:c.1343A>G	17.37:g.42941093T>C	ENSP00000392094:p.Lys448Arg					EFTUD2_ENST00000592576.1_Missense_Mutation_p.K438R|EFTUD2_ENST00000591382.1_Missense_Mutation_p.K448R|EFTUD2_ENST00000402521.3_Missense_Mutation_p.K413R	p.K448R	NM_001142605.1|NM_001258354.1|NM_004247.3	NP_001136077.1|NP_001245283.1|NP_004238.3	Q15029	U5S1_HUMAN			15	1640	-		Prostate(33;0.109)	448					B4DK30|B4DMC0|D3DX58|K7EJ81|Q9BUR0	Missense_Mutation	SNP	ENST00000426333.2	37	c.1343A>G	CCDS11489.1	.	.	.	.	.	.	.	.	.	.	T	19.77	3.890050	0.72524	.	.	ENSG00000108883	ENST00000426333;ENST00000262414;ENST00000402521	T;T	0.79141	-1.24;-1.24	5.92	5.92	0.95590	Translation elongation/initiation factor/Ribosomal, beta-barrel (1);	0.000000	0.85682	D	0.000000	T	0.65471	0.2694	N	0.17248	0.465	0.80722	D	1	B;B	0.31859	0.343;0.343	B;B	0.37239	0.244;0.244	T	0.62685	-0.6802	10	0.07482	T	0.82	-7.8561	16.3634	0.83296	0.0:0.0:0.0:1.0	.	438;448	B4DMC0;Q15029	.;U5S1_HUMAN	R	448;438;413	ENSP00000392094:K448R;ENSP00000385873:K413R	ENSP00000262414:K438R	K	-	2	0	EFTUD2	40296619	1.000000	0.71417	1.000000	0.80357	0.907000	0.53573	7.698000	0.84413	2.270000	0.75569	0.459000	0.35465	AAG		0.557	EFTUD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448672.1	NM_004247		7	59	0	0	0	1	0	7	59					C	42941093	T	C	42941093	3	2	367	1	0	0	0	0	1	0	0	0	4961	1609	56	4	1631	4	EFTUD2	17	42941093	Missense_Mutation	SNP	T	TCGA-TP-A8TV-01A-11D-A41K-08	4033797	42941093	38254117	44	18319											
SPOP	8405	broad.mit.edu	37	chr17	47696688	47696688	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gacagctgaccagtaacaggTaaagtgacaggtaatctttg	14	9	11	7	0	1	2	0	2	1	0	1	3	1	2	1	2	2	4	1	2	4	4			TCGA-TP-A8TV-01A-11D-A41K-08	TCGA-TP-A8TV-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5e215fa-ef1d-4663-badb-152039afcbad	b6d5714c-04e4-4c50-aa90-47f20ab06b71	g.chr17:47696688T>C	ENST00000393328.2	-	5	625	c.260A>G	c.(259-261)tAc>tGc	p.Y87C	SPOP_ENST00000393331.3_Missense_Mutation_p.Y87C|SPOP_ENST00000513080.1_5'UTR|SPOP_ENST00000347630.2_Missense_Mutation_p.Y87C|SPOP_ENST00000504102.1_Missense_Mutation_p.Y87C|SPOP_ENST00000503676.1_Missense_Mutation_p.Y87C	NM_003563.3	NP_003554.1	O43791	SPOP_HUMAN	speckle-type POZ protein	87	MATH. {ECO:0000255|PROSITE- ProRule:PRU00129}.|Required for nuclear localization.				glucose homeostasis (GO:0042593)|positive regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902237)|positive regulation of type B pancreatic cell apoptotic process (GO:2000676)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	Cul3-RING ubiquitin ligase complex (GO:0031463)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	ubiquitin protein ligase binding (GO:0031625)	p.Y87C(2)|p.Y87S(2)		endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						CAGTAACAGGTAAAGTGACAG	0.403										Prostate(2;0.17)																												ENST00000393331.3																			4	Substitution - Missense(4)	p.Y87C(2)|p.Y87S(2)	prostate(4)	endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						c.(259-261)tAc>tGc		speckle-type POZ protein							114	107	109					17																	47696688		2203	4300	6503	SO:0001583	missense	8405				mRNA processing	nucleus	protein binding	g.chr17:47696688T>C	AJ000644	CCDS11551.1	17q21.33	2013-01-09			ENSG00000121067	ENSG00000121067		"BTB/POZ domain containing"	11254	protein-coding gene	gene with protein product		602650				9414087	Standard	NM_001007227		Approved	TEF2, BTBD32	uc002ipg.3	O43791	OTTHUMG00000161496	ENST00000393328.2:c.260A>G	17.37:g.47696688T>C	ENSP00000377001:p.Tyr87Cys	Prostate(2;0.17)				SPOP_ENST00000347630.2_Missense_Mutation_p.Y87C|SPOP_ENST00000393328.2_Missense_Mutation_p.Y87C|SPOP_ENST00000503676.1_Missense_Mutation_p.Y87C|SPOP_ENST00000504102.1_Missense_Mutation_p.Y87C|SPOP_ENST00000513080.1_5'UTR	p.Y87C	NM_001007226.1|NM_001007227.1	NP_001007227.1|NP_001007228.1	O43791	SPOP_HUMAN			6	730	-			87			MATH.|Required for nuclear localization.		B2R6S3|D3DTW7|Q53HJ1	Missense_Mutation	SNP	ENST00000393328.2	37	c.260A>G	CCDS11551.1	.	.	.	.	.	.	.	.	.	.	T	23.0	4.356797	0.82243	.	.	ENSG00000121067	ENST00000393328;ENST00000393331;ENST00000347630;ENST00000504102;ENST00000503676;ENST00000513872;ENST00000509079;ENST00000505581;ENST00000507970;ENST00000514121;ENST00000515508	T;T;T;T;T;T;T;T;T;T	0.69561	-0.41;-0.41;-0.41;-0.41;-0.41;-0.41;-0.41;-0.41;-0.41;-0.41	5.52	5.52	0.82312	TRAF-type (1);TRAF-like (1);MATH (3);	0.000000	0.85682	D	0.000000	T	0.81346	0.4803	M	0.93550	3.43	0.80722	D	1	P	0.43633	0.813	P	0.49226	0.603	D	0.85384	0.1121	10	0.54805	T	0.06	-9.2801	15.4649	0.75390	0.0:0.0:0.0:1.0	.	87	O43791	SPOP_HUMAN	C	87;87;87;87;87;40;87;87;87;87;87	ENSP00000377001:Y87C;ENSP00000377004:Y87C;ENSP00000240327:Y87C;ENSP00000425905:Y87C;ENSP00000420908:Y87C;ENSP00000426986:Y87C;ENSP00000420960:Y87C;ENSP00000426262:Y87C;ENSP00000424119:Y87C;ENSP00000426537:Y87C	ENSP00000240327:Y87C	Y	-	2	0	SPOP	45051687	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.864000	0.87037	2.317000	0.78254	0.460000	0.39030	TAC		0.403	SPOP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365154.2	NM_003563		32	34	0	0	0	1	0	32	34					C	47696688	T	C	47696688	3	2	367	1	0	0	0	0	1	0	0	0	15083	1638	57	4	892	4	SPOP	17	47696688	Missense_Mutation	SNP	T	TCGA-TP-A8TV-01A-11D-A41K-08	4755595	47696688	33498522	45	18320											
C19orf26	255057	broad.mit.edu	37	chr19	1235783	1235783	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtgggggcctcgcacctgttGaggcgctggtggacgtccca	4	8	17	12	3	0	1	0	1	0	0	2	2	1	2	3	5	0	3	3	5	0	1			TCGA-TP-A8TV-01A-11D-A41K-08	TCGA-TP-A8TV-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5e215fa-ef1d-4663-badb-152039afcbad	b6d5714c-04e4-4c50-aa90-47f20ab06b71	g.chr19:1235783G>A	ENST00000382477.2	-	3	496	c.222C>T	c.(220-222)ctC>ctT	p.L74L	C19orf26_ENST00000215376.6_Silent_p.L74L|C19orf26_ENST00000590083.1_Silent_p.L80L|AC004221.2_ENST00000592843.1_lincRNA			Q8N350	DOS_HUMAN	chromosome 19 open reading frame 26	74						integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	9		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CGCACCTGTTGAGGCGCTGGT	0.662										HNSCC(14;0.022)																												ENST00000590083.1																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	9						c.(238-240)ctC>ctT		chromosome 19 open reading frame 26							68	55	60					19																	1235783		2203	4300	6503	SO:0001819	synonymous_variant	255057					integral to membrane		g.chr19:1235783G>A	BC028156	CCDS12057.1, CCDS12057.2	19p13.3	2012-10-24			ENSG00000099625	ENSG00000099625			28617	protein-coding gene	gene with protein product	"downstream of STK11"					12477932	Standard	NM_152769		Approved	MGC40084, DOS	uc002lrm.3	Q8N350	OTTHUMG00000180141	ENST00000382477.2:c.222C>T	19.37:g.1235783G>A		HNSCC(14;0.022)				C19orf26_ENST00000215376.6_Silent_p.L74L|C19orf26_ENST00000382477.2_Silent_p.L74L	p.L80L			Q8N350	DOS_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	3	532	-		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)	74					O43385	Silent	SNP	ENST00000382477.2	37	c.240C>T																																																																																					0.662	C19orf26-202	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_152769		5	27	0	0	0	1	0	5	27					A	1235783	G	A	1235783	2	1	367	1	0	0	0	0	0	0	0	1	1916	1277	45	3		3	C19orf26	19	1235783	Silent	SNP	G	TCGA-TP-A8TV-01A-11D-A41K-08		1235783	57893200	46	18321											
C3	718	broad.mit.edu	37	chr19	6697481	6697481	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggaacggacaacgaggacttGggggggatggttacggtctg	9	7	19	6	3	1	0	0	0	1	0	1	5	1	4	0	8	3	1	0	8	3	2	rs137956083	byFrequency	TCGA-TP-A8TV-01A-11D-A41K-08	TCGA-TP-A8TV-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5e215fa-ef1d-4663-badb-152039afcbad	b6d5714c-04e4-4c50-aa90-47f20ab06b71	g.chr19:6697481G>A	ENST00000245907.6	-	21	2762	c.2670C>T	c.(2668-2670)ccC>ccT	p.P890P		NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3	890					complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|fatty acid metabolic process (GO:0006631)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of activation of membrane attack complex (GO:0001970)|positive regulation of angiogenesis (GO:0045766)|positive regulation of apoptotic cell clearance (GO:2000427)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)|positive regulation of glucose transport (GO:0010828)|positive regulation of lipid storage (GO:0010884)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of type IIa hypersensitivity (GO:0001798)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of complement activation (GO:0030449)|regulation of immune response (GO:0050776)|regulation of triglyceride biosynthetic process (GO:0010866)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	C5L2 anaphylatoxin chemotactic receptor binding (GO:0031715)|endopeptidase inhibitor activity (GO:0004866)|receptor binding (GO:0005102)			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)	Intravenous Immunoglobulin(DB00028)	ACGAGGACTTGGGGGGGATGG	0.572																																						ENST00000245907.6																			0				breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72						c.(2668-2670)ccC>ccT		complement component 3							122	96	105					19																	6697481		2203	4300	6503	SO:0001819	synonymous_variant	718				complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding	g.chr19:6697481G>A	J04763	CCDS32883.1	19p13.3-p13.2	2014-09-17			ENSG00000125730	ENSG00000125730	3.4.21.43	"Complement system", "Endogenous ligands"	1318	protein-coding gene	gene with protein product	"C3a anaphylatoxin", "complement component C3a", "complement component C3b", "prepro-C3"	120700					Standard	NM_000064		Approved	CPAMD1, ARMD9, C3a, C3b	uc002mfm.3	P01024	OTTHUMG00000150335	ENST00000245907.6:c.2670C>T	19.37:g.6697481G>A							p.P890P	NM_000064.2	NP_000055.2	P01024	CO3_HUMAN		GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)	21	2762	-			890					A7E236	Silent	SNP	ENST00000245907.6	37	c.2670C>T	CCDS32883.1																																																																																				0.572	C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317636.2	NM_000064		7	36	0	0	0	1	0	7	36					A	6697481	G	A	6697481	2	1	367	1	0	0	0	0	0	0	0	1	2204	1335	47	3		3	C3	19	6697481	Silent	SNP	G	TCGA-TP-A8TV-01A-11D-A41K-08	5461698	6697481	52431502	47	18322											
COL5A3	50509	broad.mit.edu	37	chr19	10090686	10090686	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tcacaggggggccctttggcCcagggaatcctggagggcct	6	7	16	12	0	1	0	1	0	0	0	2	2	2	2	4	7	0	0	4	7	1	1			TCGA-TP-A8TV-01A-11D-A41K-08	TCGA-TP-A8TV-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5e215fa-ef1d-4663-badb-152039afcbad	b6d5714c-04e4-4c50-aa90-47f20ab06b71	g.chr19:10090686C>T	ENST00000264828.3	-	36	2727	c.2642G>A	c.(2641-2643)gGg>gAg	p.G881E		NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	collagen, type V, alpha 3	881	Triple-helical region.				axon guidance (GO:0007411)|cell-matrix adhesion (GO:0007160)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skin development (GO:0043588)	collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)			NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116			Epithelial(33;7.11e-05)			GCCCTTTGGCCCAGGGAATCC	0.607																																						ENST00000264828.3																			0				NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116						c.(2641-2643)gGg>gAg		collagen, type V, alpha 3							46	42	43					19																	10090686		2203	4300	6503	SO:0001583	missense	50509				collagen fibril organization|skin development	collagen type V	collagen binding|extracellular matrix structural constituent	g.chr19:10090686C>T	AF177941	CCDS12222.1	19p13.2	2013-01-16			ENSG00000080573	ENSG00000080573		"Collagens"	14864	protein-coding gene	gene with protein product		120216				10722718	Standard	NM_015719		Approved		uc002mmq.1	P25940	OTTHUMG00000150019	ENST00000264828.3:c.2642G>A	19.37:g.10090686C>T	ENSP00000264828:p.Gly881Glu						p.G881E	NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	Epithelial(33;7.11e-05)		36	2727	-			881			Triple-helical region.		Q9NZQ6	Missense_Mutation	SNP	ENST00000264828.3	37	c.2642G>A	CCDS12222.1	.	.	.	.	.	.	.	.	.	.	C	16.30	3.084211	0.55861	.	.	ENSG00000080573	ENST00000264828	D	0.99429	-5.89	4.5	4.5	0.54988	.	0.000000	0.64402	U	0.000002	D	0.99664	0.9875	H	0.96208	3.785	0.58432	D	0.999998	D	0.89917	1.0	D	0.80764	0.994	D	0.97420	1.0008	10	0.87932	D	0	.	14.6968	0.69129	0.0:1.0:0.0:0.0	.	881	P25940	CO5A3_HUMAN	E	881	ENSP00000264828:G881E	ENSP00000264828:G881E	G	-	2	0	COL5A3	9951686	1.000000	0.71417	0.995000	0.50966	0.803000	0.45373	7.190000	0.77755	2.058000	0.61347	0.467000	0.42956	GGG		0.607	COL5A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315788.1	NM_015719		3	26	0	0	0	1	0	3	26					T	10090686	C	T	10090686	3	4	367	1	0	0	0	0	1	0	0	0	3698	623	22	3	2723	3	COL5A3	19	10090686	Missense_Mutation	SNP	C	TCGA-TP-A8TV-01A-11D-A41K-08	3393205	10090686	49038297	48	18323											
SLC27A1	376497	broad.mit.edu	37	chr19	17608156	17608156	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	cgcgtgcgcctggcggtgggGaacgggctgcgtcctgccat	3	7	18	13	6	0	0	0	0	0	0	1	1	1	1	3	5	4	1	3	5	1	0			TCGA-TP-A8TV-01A-11D-A41K-08	TCGA-TP-A8TV-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5e215fa-ef1d-4663-badb-152039afcbad	b6d5714c-04e4-4c50-aa90-47f20ab06b71	g.chr19:17608156G>A	ENST00000252595.7	+	7	1186	c.1089G>A	c.(1087-1089)ggG>ggA	p.G363G	SLC27A1_ENST00000442725.1_Silent_p.G363G|CTD-3131K8.2_ENST00000596643.1_lincRNA|SLC27A1_ENST00000598424.1_Silent_p.G184G	NM_198580.1	NP_940982.1	Q6PCB7	S27A1_HUMAN	solute carrier family 27 (fatty acid transporter), member 1	363	Sufficient for oligomerization. {ECO:0000250}.				adiponectin-activated signaling pathway (GO:0033211)|cardiolipin biosynthetic process (GO:0032049)|cellular lipid metabolic process (GO:0044255)|fatty acid metabolic process (GO:0006631)|long-chain fatty acid transport (GO:0015909)|medium-chain fatty acid transport (GO:0001579)|negative regulation of phospholipid biosynthetic process (GO:0071072)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylcholine biosynthetic process (GO:0006656)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phosphatidylglycerol biosynthetic process (GO:0006655)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylserine biosynthetic process (GO:0006659)|positive regulation of heat generation (GO:0031652)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|response to cold (GO:0009409)|response to insulin (GO:0032868)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	fatty acid transporter activity (GO:0015245)|nucleotide binding (GO:0000166)|very long-chain fatty acid-CoA ligase activity (GO:0031957)			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23						TGGCGGTGGGGAACGGGCTGC	0.667																																						ENST00000252595.7																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23						c.(1087-1089)ggG>ggA		solute carrier family 27 (fatty acid transporter), member 1							56	46	49					19																	17608156		2203	4300	6503	SO:0001819	synonymous_variant	376497				cardiolipin biosynthetic process|fatty acid metabolic process|long-chain fatty acid transport|negative regulation of phospholipid biosynthetic process|phosphatidic acid biosynthetic process|phosphatidylcholine biosynthetic process|phosphatidylethanolamine biosynthetic process|phosphatidylinositol biosynthetic process|phosphatidylserine biosynthetic process|transmembrane transport	endomembrane system|integral to membrane	fatty acid transporter activity|nucleotide binding	g.chr19:17608156G>A	BC059399	CCDS32953.1	19p13.11	2013-07-15			ENSG00000130304	ENSG00000130304		"Acyl-CoA synthetase family", "Solute carriers"	10995	protein-coding gene	gene with protein product		600691				10873384	Standard	NM_198580		Approved	FATP1, FATP, MGC71751, FLJ00336, ACSVL5	uc002ngu.1	Q6PCB7	OTTHUMG00000182878	ENST00000252595.7:c.1089G>A	19.37:g.17608156G>A						SLC27A1_ENST00000442725.1_Silent_p.G363G|CTD-3131K8.2_ENST00000596643.1_lincRNA|SLC27A1_ENST00000598424.1_Silent_p.G184G	p.G363G	NM_198580.1	NP_940982.1	Q6PCB7	S27A1_HUMAN			7	1186	+			363			Sufficient for oligomerization (By similarity).		A6NIH2|B7Z662	Silent	SNP	ENST00000252595.7	37	c.1089G>A	CCDS32953.1																																																																																				0.667	SLC27A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464145.1	NM_198580		15	14	0	0	0	1	0	15	14					A	17608156	G	A	17608156	2	1	367	1	0	0	0	0	0	0	0	1	14525	1161	41	3		3	SLC27A1	19	17608156	Silent	SNP	G	TCGA-TP-A8TV-01A-11D-A41K-08	7517470	17608156	41520827	49	18324											
WDR88	126248	broad.mit.edu	37	chr19	33623274	33623274	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ccctggccttggacagggaaCcaccaccgcatctgttgcct	7	8	10	16	1	1	0	0	0	1	0	1	2	1	2	6	3	2	2	6	3	1	2			TCGA-TP-A8TV-01A-11D-A41K-08	TCGA-TP-A8TV-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5e215fa-ef1d-4663-badb-152039afcbad	b6d5714c-04e4-4c50-aa90-47f20ab06b71	g.chr19:33623274C>T	ENST00000355868.3	+	1	275	c.199C>T	c.(199-201)Cca>Tca	p.P67S	WDR88_ENST00000361680.2_Missense_Mutation_p.P67S|WDR88_ENST00000592765.1_Missense_Mutation_p.P67S	NM_173479.3	NP_775750.3	Q6ZMY6	WDR88_HUMAN	WD repeat domain 88	67										breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	25	Esophageal squamous(110;0.137)					GGACAGGGAACCACCACCGCA	0.652																																						ENST00000361680.2																			0				breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	25						c.(199-201)Cca>Tca		WD repeat domain 88							78	77	78					19																	33623274		2203	4300	6503	SO:0001583	missense	126248							g.chr19:33623274C>T	BC031227	CCDS12429.1	19q13.11	2013-01-09	2007-04-04	2007-04-04		ENSG00000166359		"WD repeat domain containing"	26999	protein-coding gene	gene with protein product			"PQQ repeat and WD repeat domain containing"	PQWD		12477932	Standard	NM_173479		Approved		uc002nui.3	Q6ZMY6		ENST00000355868.3:c.199C>T	19.37:g.33623274C>T	ENSP00000348129:p.Pro67Ser					WDR88_ENST00000592765.1_Missense_Mutation_p.P67S|WDR88_ENST00000355868.3_Missense_Mutation_p.P67S	p.P67S			Q6ZMY6	WDR88_HUMAN			1	277	+	Esophageal squamous(110;0.137)		67					Q8NEF8	Missense_Mutation	SNP	ENST00000355868.3	37	c.199C>T	CCDS12429.1	.	.	.	.	.	.	.	.	.	.	C	0.484	-0.878475	0.02550	.	.	ENSG00000166359	ENST00000355868;ENST00000361680	T;T	0.59502	0.57;0.26	3.52	-4.0	0.04057	.	.	.	.	.	T	0.22704	0.0548	N	0.02539	-0.55	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.10847	-1.0612	9	0.25751	T	0.34	.	2.4097	0.04421	0.1584:0.4511:0.1611:0.2295	.	67	Q6ZMY6	WDR88_HUMAN	S	67	ENSP00000348129:P67S;ENSP00000355148:P67S	ENSP00000348129:P67S	P	+	1	0	WDR88	38315114	0.000000	0.05858	0.000000	0.03702	0.049000	0.14656	-3.732000	0.00380	-0.865000	0.04073	-0.676000	0.03789	CCA		0.652	WDR88-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450840.1	NM_173479		9	74	0	0	0	1	0	9	74					T	33623274	C	T	33623274	3	4	367	1	0	0	0	0	1	0	0	0	17332	507	18	3	201	3	WDR88	19	33623274	Missense_Mutation	SNP	C	TCGA-TP-A8TV-01A-11D-A41K-08	16015118	33623274	25505709	50	18325											
ZNF836	162962	broad.mit.edu	37	chr19	52663765	52663765	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaacatcacatcccagtacAaagctttctgcacagggtcc	12	8	6	15	0	2	0	1	0	1	0	4	0	4	0	3	1	4	3	3	1	3	2			TCGA-TP-A8TV-01A-11D-A41K-08	TCGA-TP-A8TV-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5e215fa-ef1d-4663-badb-152039afcbad	b6d5714c-04e4-4c50-aa90-47f20ab06b71	g.chr19:52663765A>C	ENST00000322146.8	-	4	616	c.95T>G	c.(94-96)tTg>tGg	p.L32W	ZNF836_ENST00000597252.1_Missense_Mutation_p.L32W|ZNF836_ENST00000597065.1_Missense_Mutation_p.L32W|CTC-471J1.8_ENST00000594362.1_RNA	NM_001102657.1	NP_001096127.1	Q6ZNA1	ZN836_HUMAN	zinc finger protein 836	32	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|kidney(2)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						ATCCCAGTACAAAGCTTTCTG	0.433																																						ENST00000322146.8																			0				endometrium(2)|kidney(2)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						c.(94-96)tTg>tGg		zinc finger protein 836							114	121	119					19																	52663765		2203	4300	6503	SO:0001583	missense	162962				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52663765A>C	BC011784	CCDS46162.1	19q13.33	2013-01-08			ENSG00000196267	ENSG00000196267		"Zinc fingers, C2H2-type", "-"	34333	protein-coding gene	gene with protein product							Standard	NM_001102657		Approved	FLJ16287	uc010ydj.2	Q6ZNA1		ENST00000322146.8:c.95T>G	19.37:g.52663765A>C	ENSP00000325038:p.Leu32Trp					ZNF836_ENST00000597065.1_Missense_Mutation_p.L32W|CTC-471J1.8_ENST00000594362.1_RNA|ZNF836_ENST00000597252.1_Missense_Mutation_p.L32W	p.L32W	NM_001102657.1	NP_001096127.1	Q6ZNA1	ZN836_HUMAN			4	616	-			32			KRAB.			Missense_Mutation	SNP	ENST00000322146.8	37	c.95T>G	CCDS46162.1	.	.	.	.	.	.	.	.	.	.	A	14.93	2.682680	0.47991	.	.	ENSG00000196267	ENST00000322146	T	0.05513	3.43	2.06	2.06	0.26882	Krueppel-associated box (4);	.	.	.	.	T	0.38772	0.1053	H	0.99357	4.53	0.23126	N	0.998258	D	0.76494	0.999	D	0.83275	0.996	T	0.29822	-0.9999	9	0.87932	D	0	.	7.677	0.28492	1.0:0.0:0.0:0.0	.	32	Q6ZNA1	ZN836_HUMAN	W	32	ENSP00000325038:L32W	ENSP00000325038:L32W	L	-	2	0	ZNF836	57355577	0.008000	0.16893	0.093000	0.20910	0.846000	0.48090	2.444000	0.44890	0.929000	0.37192	0.402000	0.26972	TTG		0.433	ZNF836-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462456.1	NM_001102657		14	105	0	0	0	1	0	14	105					C	52663765	A	C	52663765	3	2	367	1	0	0	0	0	1	0	0	0	18184	131	5	5	2721	5	ZNF836	19	52663765	Missense_Mutation	SNP	A	TCGA-TP-A8TV-01A-11D-A41K-08	19040491	52663765	6465218	51	18326											
FAM83D	81610	broad.mit.edu	37	chr20	37581078	37581078	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gagaacactctttactgaaaAccaccttggccttcattctg	11	12	6	12	0	3	2	1	1	2	1	3	3	3	2	3	1	3	0	3	1	4	5			TCGA-TP-A8TV-01A-11D-A41K-08	TCGA-TP-A8TV-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5e215fa-ef1d-4663-badb-152039afcbad	b6d5714c-04e4-4c50-aa90-47f20ab06b71	g.chr20:37581078A>G	ENST00000217429.4	+	4	1804	c.1763A>G	c.(1762-1764)aAc>aGc	p.N588S		NM_030919.2	NP_112181.2	Q9H4H8	FA83D_HUMAN	family with sequence similarity 83, member D	558					mitotic nuclear division (GO:0007067)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				endometrium(2)|kidney(2)|large_intestine(7)|lung(12)|ovary(4)|stomach(1)	28		Myeloproliferative disorder(115;0.00878)				TTTACTGAAAACCACCTTGGC	0.458																																						ENST00000217429.4																			0				endometrium(2)|kidney(2)|large_intestine(7)|lung(12)|ovary(4)|stomach(1)	28						c.(1762-1764)aAc>aGc		family with sequence similarity 83, member D							91	95	94					20																	37581078		1951	4148	6099	SO:0001583	missense	81610				cell division|mitosis	cytoplasm|spindle pole		g.chr20:37581078A>G	AL023803	CCDS42872.1	20q11.23	2014-03-13	2006-03-23	2006-03-23	ENSG00000101447	ENSG00000101447			16122	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 129"	C20orf129		23205133	Standard	NM_030919		Approved	dJ616B8.3	uc002xjg.3	Q9H4H8	OTTHUMG00000032462	ENST00000217429.4:c.1763A>G	20.37:g.37581078A>G	ENSP00000217429:p.Asn588Ser						p.N588S	NM_030919.2	NP_112181.2	Q9H4H8	FA83D_HUMAN			4	1804	+		Myeloproliferative disorder(115;0.00878)	558					B4E1I7|Q5THR2|Q68EN1|Q6P457|Q7Z6H0|Q96DF5|Q96N89|Q9BVM8	Missense_Mutation	SNP	ENST00000217429.4	37	c.1763A>G	CCDS42872.1	.	.	.	.	.	.	.	.	.	.	A	1.377	-0.584441	0.03827	.	.	ENSG00000101447	ENST00000217429;ENST00000424027	T	0.10763	2.84	6.17	2.5	0.30297	.	0.740004	0.13942	N	0.352148	T	0.09291	0.0229	M	0.63428	1.95	0.20821	N	0.999848	B	0.13145	0.007	B	0.11329	0.006	T	0.46345	-0.9198	10	0.02654	T	1	-2.2286	6.3975	0.21620	0.4449:0.443:0.1121:0.0	.	558	Q9H4H8	FA83D_HUMAN	S	588;542	ENSP00000217429:N588S	ENSP00000217429:N588S	N	+	2	0	FAM83D	37014492	0.744000	0.28250	0.905000	0.35620	0.020000	0.10135	0.394000	0.20834	1.119000	0.41883	0.533000	0.62120	AAC		0.458	FAM83D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079211.1			26	35	0	0	0	1	0	26	35					G	37581078	A	G	37581078	3	3	367	1	0	0	0	0	1	0	0	0	5636	43	2	4	1777	4	FAM83D	20	37581078	Missense_Mutation	SNP	A	TCGA-TP-A8TV-01A-11D-A41K-08		37581078	25444442	52	18327											
MMP9	4318	broad.mit.edu	37	chr20	44641091	44641091	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agtttgttcctcgtggcggcGcatgagttcggccacgcgct	4	11	14	12	6	0	1	0	1	0	0	3	1	1	1	2	3	0	5	2	3	0	3	rs201927079		TCGA-TP-A8TV-01A-11D-A41K-08	TCGA-TP-A8TV-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5e215fa-ef1d-4663-badb-152039afcbad	b6d5714c-04e4-4c50-aa90-47f20ab06b71	g.chr20:44641091G>A	ENST00000372330.3	+	8	1219	c.1200G>A	c.(1198-1200)gcG>gcA	p.A400A	RP11-465L10.10_ENST00000535913.1_RNA	NM_004994.2	NP_004985.2	P14780	MMP9_HUMAN	matrix metallopeptidase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase)	400					collagen catabolic process (GO:0030574)|embryo implantation (GO:0007566)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|leukocyte migration (GO:0050900)|macrophage differentiation (GO:0030225)|negative regulation of cation channel activity (GO:2001258)|ossification (GO:0001503)|positive regulation of apoptotic process (GO:0043065)|positive regulation of keratinocyte migration (GO:0051549)|positive regulation of receptor binding (GO:1900122)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	collagen binding (GO:0005518)|identical protein binding (GO:0042802)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(2)|endometrium(4)|large_intestine(14)|liver(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(3)	46		Myeloproliferative disorder(115;0.0122)			Captopril(DB01197)|Glucosamine(DB01296)|Marimastat(DB00786)|Minocycline(DB01017)	TCGTGGCGGCGCATGAGTTCG	0.652													G|||	1	0.000199681	0	0	5008	,	,		12827	0		0.001	False		,,,				2504	0					ENST00000372330.3																			0				breast(2)|endometrium(4)|large_intestine(14)|liver(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(3)	46						c.(1198-1200)gcG>gcA		matrix metallopeptidase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase)	Glucosamine(DB01296)|Marimastat(DB00786)|Minocycline(DB01017)|Simvastatin(DB00641)						58	56	57					20																	44641091		2203	4300	6503	SO:0001819	synonymous_variant	4318				collagen catabolic process|macrophage differentiation|positive regulation of keratinocyte migration|proteolysis	extracellular space|proteinaceous extracellular matrix	collagen binding|metalloendopeptidase activity|zinc ion binding	g.chr20:44641091G>A		CCDS13390.1	20q12-q13	2008-01-07	2005-08-08		ENSG00000100985	ENSG00000100985	3.4.24.35		7176	protein-coding gene	gene with protein product		120361	"matrix metalloproteinase 9 (gelatinase B, 92kD gelatinase, 92kD type IV collagenase)", "matrix metalloproteinase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase)"	CLG4B		2158484	Standard	NM_004994		Approved		uc002xqz.3	P14780	OTTHUMG00000033044	ENST00000372330.3:c.1200G>A	20.37:g.44641091G>A							p.A400A	NM_004994.2	NP_004985.2	P14780	MMP9_HUMAN			8	1219	+		Myeloproliferative disorder(115;0.0122)	400					B2R7V9|Q3LR70|Q8N725|Q9H4Z1|Q9UCJ9|Q9UCL1|Q9UDK2	Silent	SNP	ENST00000372330.3	37	c.1200G>A	CCDS13390.1																																																																																				0.652	MMP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080337.1			3	64	0	0	0	1	0	3	64					A	44641091	G	A	44641091	2	1	367	1	0	0	0	0	0	0	0	1	9669	1074	38	1		1	MMP9	20	44641091	Silent	SNP	G	TCGA-TP-A8TV-01A-11D-A41K-08	7060013	44641091	18384429	53	18328											
IFNGR2	3460	broad.mit.edu	37	chr21	34799292	34799292	+	Frame_Shift_Del	DEL	T	T	-																															tcgctgatacctccacggccTttttttgttattatgtccat																								rs375419913		TCGA-TP-A8TV-01A-11D-A41K-08	TCGA-TP-A8TV-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5e215fa-ef1d-4663-badb-152039afcbad	b6d5714c-04e4-4c50-aa90-47f20ab06b71	g.chr21:34799292delT	ENST00000290219.6	+	4	1162	c.514delT	c.(514-516)tttfs	p.F173fs	IFNGR2_ENST00000381995.1_Frame_Shift_Del_p.F192fs|IFNGR2_ENST00000405436.1_Frame_Shift_Del_p.F94fs	NM_005534.3	NP_005525.2	P38484	INGR2_HUMAN	interferon gamma receptor 2 (interferon gamma transducer 1)	173	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell surface receptor signaling pathway (GO:0007166)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|response to virus (GO:0009615)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	interferon-gamma receptor activity (GO:0004906)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|urinary_tract(1)	13					Interferon gamma-1b(DB00033)	CTCCACGGCCTTTTTTTGTTA	0.458																																						ENST00000290219.6																			0				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|urinary_tract(1)	13						c.(514-516)ttfs		interferon gamma receptor 2 (interferon gamma transducer 1)	Interferon gamma-1b(DB00033)						226	232	230					21																	34799292		2203	4300	6503	SO:0001589	frameshift_variant	3460				regulation of interferon-gamma-mediated signaling pathway|response to virus	endoplasmic reticulum|integral to plasma membrane	interferon-gamma receptor activity	g.chr21:34799292delT		CCDS33544.1	21q22.1	2014-09-17			ENSG00000159128	ENSG00000159128		"Interferons", "Fibronectin type III domain containing"	5440	protein-coding gene	gene with protein product		147569		IFNGT1		3136170	Standard	NM_005534		Approved	AF-1	uc002yrp.4	P38484	OTTHUMG00000065188	ENST00000290219.6:c.514delT	21.37:g.34799292delT	ENSP00000290219:p.Phe173fs					IFNGR2_ENST00000381995.1_Frame_Shift_Del_p.F192fs|IFNGR2_ENST00000405436.1_Frame_Shift_Del_p.F94fs	p.F173fs	NM_005534.3	NP_005525.2	P38484	INGR2_HUMAN			4	1162	+			173			Fibronectin type-III 2.		Q9BTL5	Frame_Shift_Del	DEL	ENST00000290219.6	37	c.514delT	CCDS33544.1																																																																																				0.458	IFNGR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139916.1			7	270						7	270	---	---	---	---	-	34799292	T	-	34799292	7	5	367	1	0	1	0	1	0	0	0	0	7550	1609	56	0	528	0	IFNGR2	21	34799292	Frame_Shift_Del	DEL	T	TCGA-TP-A8TV-01A-11D-A41K-08		34799292	13330603	54	18329											
TOB2	10766	broad.mit.edu	37	chr22	41832694	41832694	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgttggtgggtgagcgggccAtgcgaggctgctgtggtggc	3	10	21	7	2	0	1	0	1	0	0	0	2	0	1	1	6	3	3	1	6	0	1			TCGA-TP-A8TV-01A-11D-A41K-08	TCGA-TP-A8TV-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5e215fa-ef1d-4663-badb-152039afcbad	b6d5714c-04e4-4c50-aa90-47f20ab06b71	g.chr22:41832694A>C	ENST00000327492.3	-	2	1362	c.656T>G	c.(655-657)aTg>aGg	p.M219R		NM_016272.3	NP_057356.1	Q14106	TOB2_HUMAN	transducer of ERBB2, 2	219					female gamete generation (GO:0007292)|negative regulation of cell proliferation (GO:0008285)|negative regulation of osteoclast differentiation (GO:0045671)|positive regulation of ossification (GO:0045778)|regulation of gene expression (GO:0010468)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	10						TGAGCGGGCCATGCGAGGCTG	0.627																																						ENST00000327492.3																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	10						c.(655-657)aTg>aGg		transducer of ERBB2, 2							28	23	25					22																	41832694		2203	4300	6503	SO:0001583	missense	10766				female gamete generation|negative regulation of cell proliferation	cytoplasm|nucleus		g.chr22:41832694A>C	D64109	CCDS14015.1	22q13.2	2010-02-26			ENSG00000183864	ENSG00000183864			11980	protein-coding gene	gene with protein product		607396		TROB2		10602502, 10591208	Standard	XM_005261315		Approved	TOBL, TOB4, bK223H9	uc003azz.1	Q14106	OTTHUMG00000150970	ENST00000327492.3:c.656T>G	22.37:g.41832694A>C	ENSP00000331305:p.Met219Arg						p.M219R	NM_016272.3	NP_057356.1	Q14106	TOB2_HUMAN			2	1362	-			219					Q6FHR7|Q6PIT9|Q9BY97|Q9UBI0	Missense_Mutation	SNP	ENST00000327492.3	37	c.656T>G	CCDS14015.1	.	.	.	.	.	.	.	.	.	.	A	10.19	1.282681	0.23392	.	.	ENSG00000183864	ENST00000327492	T	0.42131	0.98	6.08	5.04	0.67666	.	1.146790	0.06372	N	0.713703	T	0.43590	0.1254	L	0.50333	1.59	0.40608	D	0.981649	B	0.21381	0.055	B	0.17722	0.019	T	0.09509	-1.0671	10	0.59425	D	0.04	-16.7425	12.0928	0.53737	0.9332:0.0:0.0668:0.0	.	219	Q14106	TOB2_HUMAN	R	219	ENSP00000331305:M219R	ENSP00000331305:M219R	M	-	2	0	TOB2	40162640	1.000000	0.71417	0.936000	0.37596	0.526000	0.34562	4.917000	0.63369	1.120000	0.41904	0.533000	0.62120	ATG		0.627	TOB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320699.1	NM_016272		3	13	0	0	0	1	0	3	13					C	41832694	A	C	41832694	3	2	367	1	0	0	0	0	1	0	0	0	16345	217	8	5	382	5	TOB2	22	41832694	Missense_Mutation	SNP	A	TCGA-TP-A8TV-01A-11D-A41K-08		41832694	9471872	55	18330											
BMP15	9210	broad.mit.edu	37	chrX	50653913	50653913	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgaggcccctactttgcccCtgattgaggagctgctagaa	8	10	11	12	0	0	4	0	3	0	1	0	5	0	5	4	2	4	2	4	2	3	4			TCGA-TP-A8TV-01A-11D-A41K-08	TCGA-TP-A8TV-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5e215fa-ef1d-4663-badb-152039afcbad	b6d5714c-04e4-4c50-aa90-47f20ab06b71	g.chrX:50653913C>G	ENST00000252677.3	+	1	130	c.130C>G	c.(130-132)Ctg>Gtg	p.L44V		NM_005448.2	NP_005439.2	O95972	BMP15_HUMAN	bone morphogenetic protein 15	44					female gamete generation (GO:0007292)|granulosa cell development (GO:0060016)|ovarian follicle development (GO:0001541)|positive regulation of transcription, DNA-templated (GO:0045893)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)				NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(2)|skin(1)	26	Ovarian(276;0.236)					TACTTTGCCCCTGATTGAGGA	0.557																																						ENST00000252677.3																			0				NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(2)|skin(1)	26						c.(130-132)Ctg>Gtg		bone morphogenetic protein 15							36	32	33					X																	50653913		2203	4298	6501	SO:0001583	missense	9210				female gamete generation|granulosa cell development|ovarian follicle development	extracellular space	cytokine activity|growth factor activity	g.chrX:50653913C>G	AF082349	CCDS14334.1	Xp11.2	2013-02-06			ENSG00000130385	ENSG00000130385		"Bone morphogenetic proteins"	1068	protein-coding gene	gene with protein product		300247				9849956	Standard	NM_005448		Approved	GDF9B	uc011mnw.2	O95972	OTTHUMG00000021525	ENST00000252677.3:c.130C>G	X.37:g.50653913C>G	ENSP00000252677:p.Leu44Val						p.L44V	NM_005448.2	NP_005439.2	O95972	BMP15_HUMAN			1	130	+	Ovarian(276;0.236)		44					Q17RM6|Q5JST1|Q9UMS1	Missense_Mutation	SNP	ENST00000252677.3	37	c.130C>G	CCDS14334.1	.	.	.	.	.	.	.	.	.	.	c	7.892	0.732426	0.15507	.	.	ENSG00000130385	ENST00000252677	D	0.83419	-1.72	5.86	2.11	0.27256	.	0.423165	0.23149	N	0.051370	D	0.82811	0.5118	M	0.71581	2.175	0.09310	N	1	D	0.56968	0.978	P	0.50825	0.651	T	0.72743	-0.4201	10	0.40728	T	0.16	.	6.4818	0.22067	0.0:0.5879:0.0:0.4121	.	44	O95972	BMP15_HUMAN	V	44	ENSP00000252677:L44V	ENSP00000252677:L44V	L	+	1	2	BMP15	50670653	0.179000	0.23135	0.364000	0.25888	0.334000	0.28698	0.090000	0.15025	0.227000	0.20999	0.544000	0.68410	CTG		0.557	BMP15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056572.1	NM_005448		6	0	0	0	0	1	0	6	0					G	50653913	C	G	50653913	3	3	367	1	0	0	0	0	1	0	0	0	1458	680	24	5	132	5	BMP15	23	50653913	Missense_Mutation	SNP	C	TCGA-TP-A8TV-01A-11D-A41K-08		50653913	104616647	56	18331											
TMEM50A	23585	broad.mit.edu	37	chr1	25679432	25679432	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttggatctctgattgcatctAtgtggattctttttggaggt	6	19	11	5	0	3	1	0	1	3	0	4	4	3	4	0	4	1	1	0	4	1	6			TCGA-V1-A8MF-01A-11D-A364-08	TCGA-V1-A8MF-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14569e23-59ef-4c2a-abdc-0c162bdfc721	3b55bcae-8653-48b8-b552-b0368b47bac2	g.chr1:25679432A>G	ENST00000374358.4	+	5	887	c.334A>G	c.(334-336)Atg>Gtg	p.M112V	TMEM50A_ENST00000480937.1_Intron	NM_014313.3	NP_055128.1	O95807	TM50A_HUMAN	transmembrane protein 50A	112						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				endometrium(1)|kidney(1)|large_intestine(3)|lung(1)	6		Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0101)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0422)|OV - Ovarian serous cystadenocarcinoma(117;3.47e-27)|Colorectal(126;1.1e-08)|COAD - Colon adenocarcinoma(152;7.48e-07)|STAD - Stomach adenocarcinoma(196;0.00035)|BRCA - Breast invasive adenocarcinoma(304;0.00047)|KIRC - Kidney renal clear cell carcinoma(1967;0.000755)|GBM - Glioblastoma multiforme(114;0.00106)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.204)		GATTGCATCTATGTGGATTCT	0.343																																						ENST00000374358.4																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(1)	6						c.(334-336)Atg>Gtg		transmembrane protein 50A							165	158	160					1																	25679432		2203	4300	6503	SO:0001583	missense	23585					endoplasmic reticulum|integral to membrane		g.chr1:25679432A>G	AY071927	CCDS264.1	1p36.11	2008-02-05			ENSG00000183726	ENSG00000183726			30590	protein-coding gene	gene with protein product	"small membrane protein 1"	605348				10938938, 10845894	Standard	NM_014313		Approved	SMP1	uc001bke.3	O95807	OTTHUMG00000007651	ENST00000374358.4:c.334A>G	1.37:g.25679432A>G	ENSP00000363478:p.Met112Val					TMEM50A_ENST00000480937.1_Intron	p.M112V	NM_014313.3	NP_055128.1	O95807	TM50A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0422)|OV - Ovarian serous cystadenocarcinoma(117;3.47e-27)|Colorectal(126;1.1e-08)|COAD - Colon adenocarcinoma(152;7.48e-07)|STAD - Stomach adenocarcinoma(196;0.00035)|BRCA - Breast invasive adenocarcinoma(304;0.00047)|KIRC - Kidney renal clear cell carcinoma(1967;0.000755)|GBM - Glioblastoma multiforme(114;0.00106)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.204)	5	887	+		Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0101)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)	112						Missense_Mutation	SNP	ENST00000374358.4	37	c.334A>G	CCDS264.1	.	.	.	.	.	.	.	.	.	.	A	8.716	0.913243	0.17907	.	.	ENSG00000183726	ENST00000374358	T	0.26957	1.7	5.83	4.66	0.58398	.	0.033413	0.85682	D	0.000000	T	0.15782	0.0380	L	0.31420	0.93	0.58432	D	0.999997	B	0.10296	0.003	B	0.16722	0.016	T	0.04537	-1.0944	10	0.02654	T	1	-5.3697	11.3583	0.49627	0.8646:0.0:0.0:0.1354	.	112	O95807	TM50A_HUMAN	V	112	ENSP00000363478:M112V	ENSP00000363478:M112V	M	+	1	0	TMEM50A	25552019	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	6.471000	0.73562	2.228000	0.72767	0.456000	0.33151	ATG		0.343	TMEM50A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000020313.1			28	51	0	0	0	1	0	28	51					G	25679432	A	G	25679432	3	3	368	1	0	0	0	0	1	0	0	0	16172	449	16	4	348	4	TMEM50A	1	25679432	Missense_Mutation	SNP	A	TCGA-V1-A8MF-01A-11D-A364-08		25679432	223571189	1	18332											
SLC2A1	6513	broad.mit.edu	37	chr1	43392795	43392795	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctcccccctgccggaagcCggaagcgatctcatcgaagg	8	5	13	15	4	1	0	1	0	1	0	4	4	2	2	5	4	3	1	5	4	3	0	rs138139624		TCGA-V1-A8MF-01A-11D-A364-08	TCGA-V1-A8MF-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14569e23-59ef-4c2a-abdc-0c162bdfc721	3b55bcae-8653-48b8-b552-b0368b47bac2	g.chr1:43392795C>T	ENST00000426263.3	-	10	1574	c.1396G>A	c.(1396-1398)Ggc>Agc	p.G466S	SLC2A1_ENST00000475162.1_Intron	NM_006516.2	NP_006507.2	P11166	GTR1_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 1	466					carbohydrate metabolic process (GO:0005975)|cellular response to glucose starvation (GO:0042149)|energy reserve metabolic process (GO:0006112)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|L-ascorbic acid metabolic process (GO:0019852)|protein complex assembly (GO:0006461)|regulation of insulin secretion (GO:0050796)|response to osmotic stress (GO:0006970)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	basolateral plasma membrane (GO:0016323)|blood microparticle (GO:0072562)|caveola (GO:0005901)|cell-cell junction (GO:0005911)|cortical actin cytoskeleton (GO:0030864)|extracellular vesicular exosome (GO:0070062)|female pronucleus (GO:0001939)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|midbody (GO:0030496)|plasma membrane (GO:0005886)	D-glucose transmembrane transporter activity (GO:0055056)|dehydroascorbic acid transporter activity (GO:0033300)|glucose transmembrane transporter activity (GO:0005355)|identical protein binding (GO:0042802)|protein self-association (GO:0043621)|xenobiotic transporter activity (GO:0042910)			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(2)|ovary(1)|pancreas(2)	13	Ovarian(52;0.00579)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0122)			Etomidate(DB00292)	TGCCGGAAGCCGGAAGCGATC	0.557																																						ENST00000426263.3																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(2)|ovary(1)|pancreas(2)	13						c.(1396-1398)Ggc>Agc		solute carrier family 2 (facilitated glucose transporter), member 1	Etomidate(DB00292)	C	SER/GLY	0,4406		0,0,2203	71	71	71		1396	5.6	1	1	dbSNP_134	71	1,8599	1.2+/-3.3	0,1,4299	no	missense	SLC2A1	NM_006516.2	56	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	466/493	43392795	1,13005	2203	4300	6503	SO:0001583	missense	6513				carbohydrate metabolic process|energy reserve metabolic process|regulation of insulin secretion|water-soluble vitamin metabolic process	integral to membrane|melanosome|membrane fraction|midbody	D-glucose transmembrane transporter activity|dehydroascorbic acid transporter activity	g.chr1:43392795C>T	K03195	CCDS477.1	1p34.2	2013-05-22			ENSG00000117394	ENSG00000117394		"Solute carriers"	11005	protein-coding gene	gene with protein product		138140	"human T-cell leukemia virus (I and II) receptor"	GLUT1, GLUT, HTLVR		8839927, 14622599, 18451999	Standard	NM_006516		Approved	DYT18	uc001cik.2	P11166	OTTHUMG00000007657	ENST00000426263.3:c.1396G>A	1.37:g.43392795C>T	ENSP00000416293:p.Gly466Ser					SLC2A1_ENST00000475162.1_Intron	p.G466S	NM_006516.2	NP_006507.2	P11166	GTR1_HUMAN			10	1574	-	Ovarian(52;0.00579)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0122)	466					A8K9S6|B2R620|D3DPX0|O75535|Q147X2	Missense_Mutation	SNP	ENST00000426263.3	37	c.1396G>A	CCDS477.1	.	.	.	.	.	.	.	.	.	.	C	11.08	1.533288	0.27387	0.0	1.16E-4	ENSG00000117394	ENST00000426263;ENST00000397019	T	0.74209	-0.82	5.59	5.59	0.84812	.	0.218979	0.48767	D	0.000163	T	0.55417	0.1919	N	0.11064	0.09	0.80722	D	1	B	0.19445	0.036	B	0.13407	0.009	T	0.53961	-0.8364	10	0.09084	T	0.74	.	17.0883	0.86616	0.0:1.0:0.0:0.0	.	466	P11166	GTR1_HUMAN	S	466;408	ENSP00000416293:G466S	ENSP00000380214:G408S	G	-	1	0	SLC2A1	43165382	0.790000	0.28787	0.960000	0.40013	0.898000	0.52572	2.454000	0.44979	2.642000	0.89623	0.561000	0.74099	GGC		0.557	SLC2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000020358.2	NM_006516		23	47	0	0	0	1	0	23	47					T	43392795	C	T	43392795	3	4	368	1	0	0	0	0	1	0	0	0	14538	652	23	2	86	2	SLC2A1	1	43392795	Missense_Mutation	SNP	C	TCGA-V1-A8MF-01A-11D-A364-08	17713363	43392795	205857826	2	18333											
CD5L	922	broad.mit.edu	37	chr1	157805768	157805768	+	Nonsense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttctgctggtggctcatacAaaataccactaggggttccg	9	12	10	10	1	2	0	1	0	1	0	3	0	3	0	2	4	3	3	2	4	5	5			TCGA-V1-A8MF-01A-11D-A364-08	TCGA-V1-A8MF-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14569e23-59ef-4c2a-abdc-0c162bdfc721	3b55bcae-8653-48b8-b552-b0368b47bac2	g.chr1:157805768A>T	ENST00000368174.4	-	3	329	c.233T>A	c.(232-234)tTg>tAg	p.L78*	CD5L_ENST00000484609.1_5'UTR	NM_005894.2	NP_005885.1	O43866	CD5L_HUMAN	CD5 molecule-like	78	SRCR 1. {ECO:0000255|PROSITE- ProRule:PRU00196}.				apoptotic process (GO:0006915)|cellular defense response (GO:0006968)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	scavenger receptor activity (GO:0005044)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	52	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			TGGCTCATACAAAATACCACT	0.527																																						ENST00000368174.4																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	52						c.(232-234)tTg>tAg		CD5 molecule-like							199	207	204					1																	157805768		2203	4300	6503	SO:0001587	stop_gained	922				apoptosis|cellular defense response	extracellular space|membrane	scavenger receptor activity	g.chr1:157805768A>T	U82812	CCDS1171.1	1q21-q23	2008-02-05	2006-03-28		ENSG00000073754	ENSG00000073754			1690	protein-coding gene	gene with protein product		602592	"apoptosis inhibitor 6", "CD5 antigen-like (scavenger receptor cysteine rich family)"	API6		9045627	Standard	NM_005894		Approved	Spalpha	uc001frk.4	O43866	OTTHUMG00000022440	ENST00000368174.4:c.233T>A	1.37:g.157805768A>T	ENSP00000357156:p.Leu78*					CD5L_ENST00000484609.1_5'UTR	p.L78*	NM_005894.2	NP_005885.1	O43866	CD5L_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.24)		3	329	-	all_hematologic(112;0.0378)		78			SRCR 1.		A8K7M5|Q6UX63	Nonsense_Mutation	SNP	ENST00000368174.4	37	c.233T>A	CCDS1171.1	.	.	.	.	.	.	.	.	.	.	A	11.60	1.687226	0.29962	.	.	ENSG00000073754	ENST00000368174	.	.	.	4.85	-5.11	0.02901	.	2.589170	0.01599	N	0.021924	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.10377	T	0.69	.	5.3127	0.15839	0.2624:0.0:0.4538:0.2839	.	.	.	.	X	78	.	ENSP00000357156:L78X	L	-	2	0	CD5L	156072392	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.894000	0.04123	-1.318000	0.02289	-0.371000	0.07208	TTG		0.527	CD5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058346.1	NM_005894		18	141	0	0	0	1	0	18	141					T	157805768	A	T	157805768	4	4	368	1	0	0	0	0	0	1	0	0	3027	131	5	5	826	5	CD5L	1	157805768	Nonsense_Mutation	SNP	A	TCGA-V1-A8MF-01A-11D-A364-08	114412973	157805768	91444853	3	18334											
SH2D1B	117157	broad.mit.edu	37	chr1	162381782	162381782	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acagtcttgcttggtcagacGtccatggtagtaaggcagat	10	11	12	8	1	2	2	1	0	1	2	3	2	3	2	1	3	1	4	1	3	2	4	rs189321084		TCGA-V1-A8MF-01A-11D-A364-08	TCGA-V1-A8MF-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14569e23-59ef-4c2a-abdc-0c162bdfc721	3b55bcae-8653-48b8-b552-b0368b47bac2	g.chr1:162381782G>A	ENST00000367929.2	-	1	134	c.25C>T	c.(25-27)Cgt>Tgt	p.R9C	SH2D1B_ENST00000359567.3_Missense_Mutation_p.R9C|SH2D1B_ENST00000493550.1_5'UTR	NM_053282.4	NP_444512.2	O14796	SH21B_HUMAN	SH2 domain containing 1B	9	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				leukocyte activation involved in immune response (GO:0002366)|negative regulation of natural killer cell mediated cytotoxicity (GO:0045953)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of innate immune response (GO:0045089)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|positive regulation of natural killer cell mediated immunity (GO:0002717)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|regulation of natural killer cell activation (GO:0032814)	intracellular (GO:0005622)	protein binding, bridging (GO:0030674)			kidney(1)|large_intestine(1)|lung(4)|pancreas(1)	7	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.126)			TTGGTCAGACGTCCATGGTAG	0.527													G|||	1	0.000199681	8e-04	0	5008	,	,		22619	0		0	False		,,,				2504	0					ENST00000367929.2																			0				kidney(1)|large_intestine(1)|lung(4)|pancreas(1)	7						c.(25-27)Cgt>Tgt		SH2 domain containing 1B		G	CYS/ARG	0,4406		0,0,2203	144	128	133		25	3.5	1	1		133	1,8599		0,1,4299	no	missense	SH2D1B	NM_053282.4	180	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	9/133	162381782	1,13005	2203	4300	6503	SO:0001583	missense	117157							g.chr1:162381782G>A	AF484964	CCDS30928.1	1q23.3	2013-02-14			ENSG00000198574	ENSG00000198574		"SH2 domain containing"	30416	protein-coding gene	gene with protein product		608510				9000139, 11689425	Standard	NM_053282		Approved	EAT2	uc001gbz.1	O14796	OTTHUMG00000031377	ENST00000367929.2:c.25C>T	1.37:g.162381782G>A	ENSP00000356906:p.Arg9Cys					SH2D1B_ENST00000493550.1_5'UTR|SH2D1B_ENST00000359567.3_Missense_Mutation_p.R9C	p.R9C	NM_053282.4	NP_444512.2	O14796	SH21B_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.126)		1	134	-	all_hematologic(112;0.115)		9			SH2.		B2RBN6|Q5T0L1|Q8NI18|Q969K9	Missense_Mutation	SNP	ENST00000367929.2	37	c.25C>T	CCDS30928.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	9.323	1.058644	0.19987	0.0	1.16E-4	ENSG00000198574	ENST00000367929;ENST00000359567	D;D	0.88896	-2.44;-2.44	5.36	3.49	0.39957	SH2 motif (5);	0.592407	0.17321	N	0.178514	T	0.65354	0.2683	N	0.17564	0.495	0.24915	N	0.992018	B;B	0.09022	0.0;0.002	B;B	0.10450	0.0;0.005	T	0.53063	-0.8491	9	0.38643	T	0.18	-0.017	7.6096	0.28122	0.1917:0.0:0.8083:0.0	.	9;9	O14796-2;O14796	.;SH21B_HUMAN	C	9	ENSP00000356906:R9C;ENSP00000352571:R9C	ENSP00000352571:R9C	R	-	1	0	SH2D1B	160648406	0.629000	0.27146	0.979000	0.43373	0.057000	0.15508	0.684000	0.25364	0.806000	0.34183	-0.123000	0.14984	CGT		0.527	SH2D1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076794.1	NM_053282		18	48	0	0	0	1	0	18	48					A	162381782	G	A	162381782	3	1	368	1	0	0	0	0	1	0	0	0	14231	1145	40	1	389	1	SH2D1B	1	162381782	Missense_Mutation	SNP	G	TCGA-V1-A8MF-01A-11D-A364-08	4576014	162381782	86868839	4	18335											
BCL11A	53335	broad.mit.edu	37	chr2	60688671	60688671	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cggacttgagcgcgctgctgGcgctgcccaccaagtcgctg	5	7	14	15	5	0	1	0	1	0	0	1	2	0	2	2	2	3	4	2	2	1	1			TCGA-V1-A8MF-01A-11D-A364-08	TCGA-V1-A8MF-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14569e23-59ef-4c2a-abdc-0c162bdfc721	3b55bcae-8653-48b8-b552-b0368b47bac2	g.chr2:60688671G>A	ENST00000335712.6	-	4	1603	c.1376C>T	c.(1375-1377)gCc>gTc	p.A459V	BCL11A_ENST00000359629.5_Intron|BCL11A_ENST00000538214.1_Missense_Mutation_p.A425V|BCL11A_ENST00000477659.1_5'UTR|BCL11A_ENST00000356842.4_Missense_Mutation_p.A459V|BCL11A_ENST00000358510.4_Missense_Mutation_p.A425V|BCL11A_ENST00000537768.1_Missense_Mutation_p.A128V	NM_022893.3	NP_075044.2	Q9H165	BC11A_HUMAN	B-cell CLL/lymphoma 11A (zinc finger protein)	459					B cell differentiation (GO:0030183)|negative regulation of axon extension (GO:0030517)|negative regulation of collateral sprouting (GO:0048671)|negative regulation of dendrite development (GO:2000171)|negative regulation of neuron projection development (GO:0010977)|negative regulation of protein homooligomerization (GO:0032463)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of collateral sprouting (GO:0048672)|positive regulation of neuron projection development (GO:0010976)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein sumoylation (GO:0016925)|regulation of dendrite development (GO:0050773)|T cell differentiation (GO:0030217)	cytoplasm (GO:0005737)|nuclear body (GO:0016604)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|transcription corepressor activity (GO:0003714)			NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	59			LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)			CGCGCTGCTGGCGCTGCCCAC	0.647			T	IGH@	B-CLL																																	ENST00000335712.6				Dom	yes		2	2p13	53335	T	B-cell CLL/lymphoma 11A			L	IGH@		B-CLL		0				NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	59						c.(1375-1377)gCc>gTc		B-cell CLL/lymphoma 11A (zinc finger protein)							34	36	35					2																	60688671		2202	4300	6502	SO:0001583	missense	53335				negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding	g.chr2:60688671G>A	AJ404611	CCDS1861.1, CCDS1862.1, CCDS46295.1	2p16.1	2013-01-08	2002-05-08		ENSG00000119866	ENSG00000119866		"Zinc fingers, C2H2-type"	13221	protein-coding gene	gene with protein product		606557	"ecotropic viral integration site 9"	EVI9		11719382, 18245381	Standard	NM_018014		Approved	BCL11A-XL, BCL11A-L, BCL11A-S, CTIP1, HBFQTL5, ZNF856	uc002sae.1	Q9H165	OTTHUMG00000129420	ENST00000335712.6:c.1376C>T	2.37:g.60688671G>A	ENSP00000338774:p.Ala459Val					BCL11A_ENST00000356842.4_Missense_Mutation_p.A459V|BCL11A_ENST00000477659.1_5'UTR|BCL11A_ENST00000358510.4_Missense_Mutation_p.A425V|BCL11A_ENST00000538214.1_Missense_Mutation_p.A425V|BCL11A_ENST00000537768.1_Missense_Mutation_p.A128V|BCL11A_ENST00000359629.5_Intron	p.A459V	NM_022893.3	NP_075044.2	Q9H165	BC11A_HUMAN	LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)		4	1603	-			459					D6W5D7|Q86W14|Q8WU92|Q96JL6|Q9H163|Q9H164|Q9H3G9|Q9NWA7	Missense_Mutation	SNP	ENST00000335712.6	37	c.1376C>T	CCDS1862.1	.	.	.	.	.	.	.	.	.	.	G	15.51	2.854989	0.51376	.	.	ENSG00000119866	ENST00000356842;ENST00000378117;ENST00000538214;ENST00000537768;ENST00000335712;ENST00000358510	T;T;T;T;T	0.09538	2.97;3.25;3.15;3.25;3.18	5.27	5.27	0.74061	.	0.000000	0.52532	D	0.000078	T	0.31263	0.0791	L	0.59436	1.845	0.80722	D	1	D;D;D;D;D	0.69078	0.996;0.993;0.996;0.969;0.997	D;D;D;P;D	0.77557	0.99;0.935;0.971;0.787;0.985	T	0.00785	-1.1567	10	0.46703	T	0.11	-1.7617	18.9015	0.92444	0.0:0.0:1.0:0.0	.	425;128;425;459;459	F5H2Y4;B4DT16;Q9H165-6;Q9H165;D9YZV9	.;.;.;BC11A_HUMAN;.	V	459;495;425;128;459;425	ENSP00000349300:A459V;ENSP00000438303:A425V;ENSP00000443712:A128V;ENSP00000338774:A459V;ENSP00000351307:A425V	ENSP00000338774:A459V	A	-	2	0	BCL11A	60542175	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.876000	0.87215	2.461000	0.83175	0.655000	0.94253	GCC		0.647	BCL11A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251579.2	NM_022893		13	18	0	0	0	1	0	13	18					A	60688671	G	A	60688671	3	1	368	1	0	0	0	0	1	0	0	0	1363	1203	42	3	1241	3	BCL11A	2	60688671	Missense_Mutation	SNP	G	TCGA-V1-A8MF-01A-11D-A364-08		60688671	182510702	5	18336											
LRP1B	53353	broad.mit.edu	37	chr2	141458086	141458086	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcaggcaagtaactccatCttctgccaaatatccatggg	11	10	7	13	0	3	0	1	0	2	0	5	0	5	0	4	2	2	2	4	2	4	3			TCGA-V1-A8MF-01A-11D-A364-08	TCGA-V1-A8MF-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14569e23-59ef-4c2a-abdc-0c162bdfc721	3b55bcae-8653-48b8-b552-b0368b47bac2	g.chr2:141458086C>A	ENST00000389484.3	-	41	7503	c.6532G>T	c.(6532-6534)Gat>Tat	p.D2178Y		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	2178	EGF-like 9. {ECO:0000255|PROSITE- ProRule:PRU00076}.				protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		GTAACTCCATCTTCTGCCAAA	0.408										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	ENST00000389484.3																			0				NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606						c.(6532-6534)Gat>Tat		low density lipoprotein receptor-related protein 1B							97	98	98					2																	141458086		2203	4299	6502	SO:0001583	missense	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141458086C>A	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"Low density lipoprotein receptors"	6693	protein-coding gene	gene with protein product	"LRP-deleted in tumors"	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.6532G>T	2.37:g.141458086C>A	ENSP00000374135:p.Asp2178Tyr	TSP Lung(27;0.18)					p.D2178Y	NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)	41	7503	-		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)	2178			EGF-like 5.		Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	c.6532G>T	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	C	17.89	3.499048	0.64298	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	D	0.96716	-4.1	4.47	4.47	0.54385	Epidermal growth factor-like (1);EGF-like region, conserved site (1);	0.000000	0.64402	U	0.000001	D	0.98327	0.9445	H	0.97240	3.965	0.51482	D	0.999928	D	0.58970	0.984	P	0.57371	0.819	D	0.98860	1.0762	10	0.87932	D	0	.	11.0967	0.48147	0.0:0.9132:0.0:0.0867	.	2178	Q9NZR2	LRP1B_HUMAN	Y	2178;2116	ENSP00000374135:D2178Y	ENSP00000374135:D2178Y	D	-	1	0	LRP1B	141174556	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	4.848000	0.62874	2.176000	0.68965	0.585000	0.79938	GAT		0.408	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		32	89	1	0	2.49534e-26	1	2.76658e-26	32	89					A	141458086	C	A	141458086	3	1	368	1	0	0	0	0	1	0	0	0	8955	913	32	5	7471	5	LRP1B	2	141458086	Missense_Mutation	SNP	C	TCGA-V1-A8MF-01A-11D-A364-08	80769415	141458086	101741287	6	18337											
G6PC2	57818	broad.mit.edu	37	chr2	169758016	169758016	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagttggaaccaagatgataTgggtagcagtcattggggat	12	10	14	5	0	1	2	1	1	0	1	1	4	1	4	1	4	2	3	1	4	4	4	rs369755574		TCGA-V1-A8MF-01A-11D-A364-08	TCGA-V1-A8MF-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14569e23-59ef-4c2a-abdc-0c162bdfc721	3b55bcae-8653-48b8-b552-b0368b47bac2	g.chr2:169758016T>C	ENST00000375363.3	+	1	267	c.175T>C	c.(175-177)Tgg>Cgg	p.W59R	SPC25_ENST00000472216.2_Intron|G6PC2_ENST00000429379.2_Missense_Mutation_p.W59R|G6PC2_ENST00000421979.1_Missense_Mutation_p.W59R	NM_021176.2	NP_066999.1	Q9NQR9	G6PC2_HUMAN	glucose-6-phosphatase, catalytic, 2	59					carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose homeostasis (GO:0042593)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	glucose-6-phosphatase activity (GO:0004346)			breast(1)|endometrium(1)|large_intestine(1)|lung(5)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	13						CAAGATGATATGGGTAGCAGT	0.294																																						ENST00000375363.3																			0				breast(1)|endometrium(1)|large_intestine(1)|lung(5)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	13						c.(175-177)Tgg>Cgg		glucose-6-phosphatase, catalytic, 2		T	ARG/TRP,ARG/TRP	1,4405	2.1+/-5.4	0,1,2202	75	77	76		175,175	4.5	1	2		76	0,8600		0,0,4300	no	missense,missense	G6PC2	NM_001081686.1,NM_021176.2	101,101	0,1,6502	CC,CT,TT		0.0,0.0227,0.0077	benign,benign	59/155,59/356	169758016	1,13005	2203	4300	6503	SO:0001583	missense	57818				gluconeogenesis|glucose homeostasis|glucose transport|regulation of insulin secretion|transmembrane transport	endoplasmic reticulum membrane|integral to membrane	glucose-6-phosphatase activity	g.chr2:169758016T>C	AF283575	CCDS2230.1, CCDS46443.1	2q24-q31	2008-02-05			ENSG00000152254	ENSG00000152254			28906	protein-coding gene	gene with protein product	"islet specific glucose 6 phosphatase catalytic subunit related protein"	608058				10078553, 10078554	Standard	NM_021176		Approved	IGRP	uc002uem.3	Q9NQR9	OTTHUMG00000132182	ENST00000375363.3:c.175T>C	2.37:g.169758016T>C	ENSP00000364512:p.Trp59Arg					G6PC2_ENST00000429379.2_Missense_Mutation_p.W59R|G6PC2_ENST00000421979.1_Missense_Mutation_p.W59R|SPC25_ENST00000472216.2_Intron	p.W59R	NM_021176.2	NP_066999.1	Q9NQR9	G6PC2_HUMAN			1	267	+			59					E9PAX2|Q6AHZ0	Missense_Mutation	SNP	ENST00000375363.3	37	c.175T>C	CCDS2230.1	.	.	.	.	.	.	.	.	.	.	T	13.65	2.301466	0.40694	2.27E-4	0.0	ENSG00000152254	ENST00000375363;ENST00000429379;ENST00000421979	T;T;D	0.86164	-0.83;-0.83;-2.08	5.62	4.46	0.54185	Phosphatidic acid phosphatase/chloroperoxidase, N-terminal (1);	0.000000	0.64402	D	0.000001	D	0.88923	0.6569	M	0.86178	2.8	0.47862	D	0.999532	B;B	0.22909	0.077;0.077	B;B	0.31812	0.136;0.136	D	0.86416	0.1751	10	0.66056	D	0.02	-0.8504	11.6323	0.51183	0.0:0.07:0.0:0.93	.	59;59	E9PAX2;Q9NQR9	.;G6PC2_HUMAN	R	59	ENSP00000364512:W59R;ENSP00000396939:W59R;ENSP00000392183:W59R	ENSP00000282075:W59R	W	+	1	0	G6PC2	169466262	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.954000	0.63631	0.948000	0.37687	-0.274000	0.10170	TGG		0.294	G6PC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255234.2	NM_021176		25	36	0	0	0	1	0	25	36					C	169758016	T	C	169758016	3	2	368	1	0	0	0	0	1	0	0	0	6144	1464	51	4	177	4	G6PC2	2	169758016	Missense_Mutation	SNP	T	TCGA-V1-A8MF-01A-11D-A364-08	28299930	169758016	73441357	7	18338											
TTN	7273	broad.mit.edu	37	chr2	179539084	179539086	+	In_Frame_Del	DEL	TTC	TTC	-																															acttcctctatgctaggtggTtcttctgggatttcttcttc																										TCGA-V1-A8MF-01A-11D-A364-08	TCGA-V1-A8MF-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14569e23-59ef-4c2a-abdc-0c162bdfc721	3b55bcae-8653-48b8-b552-b0368b47bac2	g.chr2:179539084_179539086delTTC	ENST00000591111.1	-	147	33765_33767	c.33541_33543delGAA	c.(33541-33543)gaadel	p.E11181del	TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000589042.1_In_Frame_Del_p.E11555del|TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000342992.6_In_Frame_Del_p.E10254del			Q8WZ42	TITIN_HUMAN	titin	11181	Glu-rich.|Pro-rich.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGCTAGGTGGTTCTTCTGGGATT	0.34																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(34663-34665)del		titin			,,,	0,3506		0,0,1753					,,,	3.2	1			81	5,7825		0,5,3910	no	intron,intron,coding,intron	TTN	NM_133437.3,NM_133432.3,NM_133378.4,NM_003319.4	,,,	0,5,5663	A1A1,A1R,RR		0.0639,0.0,0.0441	,,,	,,,		5,11331				SO:0001651	inframe_deletion	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179539084_179539086delTTC	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.33541_33543delGAA	2.37:g.179539087_179539089delTTC	ENSP00000465570:p.Glu11181del					TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000591111.1_In_Frame_Del_p.E11181del|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_In_Frame_Del_p.E10254del|TTN_ENST00000342175.6_Intron	p.E11555del	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		151	34887_34889	-			11318			Glu-rich.|Pro-rich.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	In_Frame_Del	DEL	ENST00000591111.1	37	c.34663_34665delGAA																																																																																					0.34	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		5	2						5	2	---	---	---	---	-	179539086	TTC	-	179539084	7	5	368	1	0	1	0	1	0	0	0	0	16732	1722	60	0	69891	0	TTN	2	179539084	In_Frame_Del	DEL	TTC	TCGA-V1-A8MF-01A-11D-A364-08	9781068	179539084	63660289	8	18339											
CXCR1	3577	broad.mit.edu	37	chr2	219029019	219029019	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaattttggccgatgaaggCgtagatgatggggttgaggc	11	10	16	4	2	0	4	0	3	0	1	0	5	0	4	1	5	0	2	1	5	4	4	rs201583693		TCGA-V1-A8MF-01A-11D-A364-08	TCGA-V1-A8MF-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14569e23-59ef-4c2a-abdc-0c162bdfc721	3b55bcae-8653-48b8-b552-b0368b47bac2	g.chr2:219029019C>A	ENST00000295683.2	-	2	1036	c.916G>T	c.(916-918)Gcc>Tcc	p.A306S		NM_000634.2	NP_000625.1	P25024	CXCR1_HUMAN	chemokine (C-X-C motif) receptor 1	306			A -> T. {ECO:0000269|PubMed:11196695}.		cell surface receptor signaling pathway (GO:0007166)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|dendritic cell chemotaxis (GO:0002407)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|interleukin-8-mediated signaling pathway (GO:0038112)|receptor internalization (GO:0031623)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	chemokine receptor activity (GO:0004950)|G-protein coupled receptor activity (GO:0004930)|interleukin-8 binding (GO:0019959)|interleukin-8 receptor activity (GO:0004918)			endometrium(1)|large_intestine(2)|lung(7)|prostate(3)	13					Ketoprofen(DB01009)	CCGATGAAGGCGTAGATGATG	0.547																																						ENST00000295683.2																			0				endometrium(1)|large_intestine(2)|lung(7)|prostate(3)	13						c.(916-918)Gcc>Tcc		chemokine (C-X-C motif) receptor 1							94	93	93					2																	219029019		2203	4300	6503	SO:0001583	missense	3577				dendritic cell chemotaxis|inflammatory response	integral to membrane|plasma membrane	interleukin-8 receptor activity	g.chr2:219029019C>A	U11870	CCDS2409.1	2q35	2012-08-08	2009-11-25	2009-11-25	ENSG00000163464	ENSG00000163464		"CD molecules", "GPCR / Class A : Chemokine receptors : C-X-C motif", "Interleukins and interleukin receptors"	6026	protein-coding gene	gene with protein product		146929	"interleukin 8 receptor, alpha"	CMKAR1, IL8RA		1303245, 1427896	Standard	NM_000634		Approved	CKR-1, CDw128a, CD181	uc002vhc.3	P25024	OTTHUMG00000133108	ENST00000295683.2:c.916G>T	2.37:g.219029019C>A	ENSP00000295683:p.Ala306Ser						p.A306S	NM_000634.2	NP_000625.1	P25024	CXCR1_HUMAN			2	1036	-			306		A -> T.			B2R6Q3|Q2YEF8|Q2YEG4|Q2YEG5|Q2YEG7|Q2YEG8|Q53R18|Q6IN95|Q8N6T6|Q9P2T8|Q9P2T9|Q9P2U0|Q9P2U1|Q9P2U2	Missense_Mutation	SNP	ENST00000295683.2	37	c.916G>T	CCDS2409.1	.	.	.	.	.	.	.	.	.	.	C	25.5	4.646092	0.87958	.	.	ENSG00000163464	ENST00000295683;ENST00000421691	T	0.37411	1.2	4.89	4.89	0.63831	.	0.000000	0.85682	D	0.000000	T	0.60728	0.2291	M	0.75777	2.31	0.58432	D	0.999999	D	0.71674	0.998	D	0.71414	0.973	T	0.65598	-0.6129	10	0.72032	D	0.01	.	17.1782	0.86846	0.0:1.0:0.0:0.0	.	306	P25024	CXCR1_HUMAN	S	306;250	ENSP00000295683:A306S	ENSP00000295683:A306S	A	-	1	0	CXCR1	218737264	1.000000	0.71417	0.996000	0.52242	0.895000	0.52256	7.648000	0.83479	2.406000	0.81754	0.561000	0.74099	GCC		0.547	CXCR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256773.2	NM_000634		3	59	1	0	0.004672	1	0.00476544	3	59					A	219029019	C	A	219029019	3	1	368	1	0	0	0	0	1	0	0	0	4090	768	27	5	140	5	CXCR1	2	219029019	Missense_Mutation	SNP	C	TCGA-V1-A8MF-01A-11D-A364-08	39489935	219029019	24170354	9	18340											
COL4A4	1286	broad.mit.edu	37	chr2	227973563	227973563	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctaccttcaaacctggacGccctggttggcccggaggtc	6	8	12	15	2	1	0	1	0	0	0	2	2	1	2	5	5	2	1	5	5	2	3			TCGA-V1-A8MF-01A-11D-A364-08	TCGA-V1-A8MF-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14569e23-59ef-4c2a-abdc-0c162bdfc721	3b55bcae-8653-48b8-b552-b0368b47bac2	g.chr2:227973563G>A	ENST00000396625.3	-	11	886	c.679C>T	c.(679-681)Cgt>Tgt	p.R227C	COL4A4_ENST00000329662.7_Missense_Mutation_p.R227C	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN	collagen, type IV, alpha 4	227	Triple-helical region.				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glomerular basement membrane development (GO:0032836)	basal lamina (GO:0005605)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		AAACCTGGACGCCCTGGTTGG	0.428																																						ENST00000396625.3																			0				breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98						c.(679-681)Cgt>Tgt		collagen, type IV, alpha 4							49	43	45					2																	227973563		1850	4111	5961	SO:0001583	missense	1286				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding	g.chr2:227973563G>A		CCDS42828.1	2q35-q37	2014-09-17			ENSG00000081052	ENSG00000081052		"Collagens"	2206	protein-coding gene	gene with protein product	"collagen of basement membrane, alpha-4 chain"	120131				1639407	Standard	NM_000092		Approved	CA44	uc021vxs.1	P53420	OTTHUMG00000149892	ENST00000396625.3:c.679C>T	2.37:g.227973563G>A	ENSP00000379866:p.Arg227Cys					COL4A4_ENST00000329662.7_Missense_Mutation_p.R227C	p.R227C	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)	11	886	-		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)	227			Triple-helical region.		A8MTZ1|Q53RW9|Q53S42|Q53WR1	Missense_Mutation	SNP	ENST00000396625.3	37	c.679C>T	CCDS42828.1	.	.	.	.	.	.	.	.	.	.	G	12.56	1.975059	0.34848	.	.	ENSG00000081052	ENST00000396625;ENST00000329662	D;D	0.93712	-3.27;-3.27	5.23	1.23	0.21249	.	.	.	.	.	D	0.91683	0.7371	M	0.73962	2.25	0.21147	N	0.999778	D	0.53885	0.963	P	0.48227	0.571	T	0.82936	-0.0210	9	0.37606	T	0.19	.	1.7184	0.02906	0.1553:0.0958:0.208:0.541	.	227	P53420	CO4A4_HUMAN	C	227	ENSP00000379866:R227C;ENSP00000328553:R227C	ENSP00000328553:R227C	R	-	1	0	COL4A4	227681807	0.052000	0.20516	0.934000	0.37439	0.343000	0.28985	0.570000	0.23653	0.374000	0.24650	-0.302000	0.09304	CGT		0.428	COL4A4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313770.1	NM_000092		9	24	0	0	0	1	0	9	24					A	227973563	G	A	227973563	3	1	368	1	0	0	0	0	1	0	0	0	3693	1087	38	1	4545	1	COL4A4	2	227973563	Missense_Mutation	SNP	G	TCGA-V1-A8MF-01A-11D-A364-08	8944544	227973563	15225810	10	18341											
LRRFIP1	9208	broad.mit.edu	37	chr2	238683013	238683013	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccttttaggtaataaggttaGagagtcaagtatcacgttac	13	13	9	6	1	2	1	2	0	0	1	2	2	2	1	1	2	1	4	1	2	7	7			TCGA-V1-A8MF-01A-11D-A364-08	TCGA-V1-A8MF-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14569e23-59ef-4c2a-abdc-0c162bdfc721	3b55bcae-8653-48b8-b552-b0368b47bac2	g.chr2:238683013G>C	ENST00000308482.9	+	23	1789	c.1720G>C	c.(1720-1722)Gag>Cag	p.E574Q		NM_001137550.1	NP_001131022.1	Q32MZ4	LRRF1_HUMAN	leucine rich repeat (in FLII) interacting protein 1	0	DNA-binding.|Lys-rich.				innate immune response (GO:0045087)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of type I interferon production (GO:0032481)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|protein homodimerization activity (GO:0042803)			NS(1)|breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	29		Breast(86;0.00257)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)		Epithelial(121;9.75e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.01e-10)|Kidney(56;4.85e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.31e-07)|BRCA - Breast invasive adenocarcinoma(100;0.000151)|Lung(119;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0325)|COAD - Colon adenocarcinoma(134;0.228)		AATAAGGTTAGAGAGTCAAGT	0.323																																						ENST00000308482.9																			0				NS(1)|breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	29						c.(1720-1722)Gag>Cag		leucine rich repeat (in FLII) interacting protein 1							70	62	65					2																	238683013		1568	3582	5150	SO:0001583	missense	9208				negative regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|cytoskeleton|nucleus	DNA binding|double-stranded RNA binding|protein binding	g.chr2:238683013G>C	AJ223075	CCDS2521.1, CCDS46551.1, CCDS46552.1, CCDS46553.1	2q37.3	2010-09-30			ENSG00000124831	ENSG00000124831			6702	protein-coding gene	gene with protein product	"GC-binding factor 2"	603256				9705290, 9525888, 16199883	Standard	NM_004735		Approved	FLAP-1, FLIIAP1, TRIP, GCF-2, HUFI-1	uc002vxe.3	Q32MZ4	OTTHUMG00000133339	ENST00000308482.9:c.1720G>C	2.37:g.238683013G>C	ENSP00000310109:p.Glu574Gln						p.E574Q	NM_001137550.1	NP_001131022.1	Q32MZ4	LRRF1_HUMAN		Epithelial(121;9.75e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.01e-10)|Kidney(56;4.85e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.31e-07)|BRCA - Breast invasive adenocarcinoma(100;0.000151)|Lung(119;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0325)|COAD - Colon adenocarcinoma(134;0.228)	23	1789	+		Breast(86;0.00257)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)	623			DNA-binding.|Lys-rich.		E9PGZ2|O75766|O75799|Q32MZ5|Q53T49|Q6PKG2|Q9Y607	Missense_Mutation	SNP	ENST00000308482.9	37	c.1720G>C	CCDS46551.1	.	.	.	.	.	.	.	.	.	.	G	26.2	4.712203	0.89112	.	.	ENSG00000124831	ENST00000308482;ENST00000391999	D	0.86297	-2.1	5.29	5.29	0.74685	.	.	.	.	.	D	0.93818	0.8023	M	0.83223	2.63	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.71656	0.974;0.959	D	0.94433	0.7651	9	0.87932	D	0	.	18.2861	0.90114	0.0:0.0:1.0:0.0	.	328;574	B4DPC0;E9PGZ2	.;.	Q	574;564	ENSP00000310109:E574Q	ENSP00000310109:E574Q	E	+	1	0	LRRFIP1	238347752	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	9.296000	0.96104	2.635000	0.89317	0.557000	0.71058	GAG		0.323	LRRFIP1-002	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000257169.3	NM_004735		3	14	0	0	0	1	0	3	14					C	238683013	G	C	238683013	3	2	368	1	0	0	0	0	1	0	0	0	9027	943	33	5	3422	5	LRRFIP1	2	238683013	Missense_Mutation	SNP	G	TCGA-V1-A8MF-01A-11D-A364-08	10709450	238683013	4516360	11	18342											
DLEC1	9940	broad.mit.edu	37	chr3	38155877	38155877	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atcccagtgcacatggcagcGgtgggctgccccatcagctc	7	7	12	15	1	1	0	1	0	0	0	3	0	2	0	3	3	4	4	3	3	0	0	rs377488944		TCGA-V1-A8MF-01A-11D-A364-08	TCGA-V1-A8MF-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14569e23-59ef-4c2a-abdc-0c162bdfc721	3b55bcae-8653-48b8-b552-b0368b47bac2	g.chr3:38155877G>A	ENST00000308059.6	+	26	3732	c.3711G>A	c.(3709-3711)gcG>gcA	p.A1237A	DLEC1_ENST00000452631.2_Silent_p.A1240A|DLEC1_ENST00000346219.3_Silent_p.A1237A					deleted in lung and esophageal cancer 1											NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(3)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	51				KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)		ACATGGCAGCGGTGGGCTGCC	0.617																																						ENST00000308059.6																			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(3)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	51						c.(3709-3711)gcG>gcA		deleted in lung and esophageal cancer 1		A	,	0,4312		0,0,2156	57	69	65		3711,3711	0.2	0.3	3		65	2,8506		0,2,4252	no	coding-synonymous,coding-synonymous	DLEC1	NM_007335.2,NM_007337.2	,	0,2,6408	AA,AG,GG		0.0235,0.0,0.0156	,	1237/1756,1237/1779	38155877	2,12818	2156	4254	6410	SO:0001819	synonymous_variant	9940				negative regulation of cell proliferation	cytoplasm		g.chr3:38155877G>A	AB020522	CCDS2672.2	3p21.3	2014-07-31			ENSG00000008226	ENSG00000008226			2899	protein-coding gene	gene with protein product	"cilia and flagella associated protein 81"	604050				10213508	Standard	XM_005265630		Approved	DLC1, CFAP81	uc003chp.1	Q9Y238	OTTHUMG00000131085	ENST00000308059.6:c.3711G>A	3.37:g.38155877G>A						DLEC1_ENST00000452631.2_Silent_p.A1240A|DLEC1_ENST00000346219.3_Silent_p.A1237A	p.A1237A			Q9Y238	DLEC1_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)	26	3732	+			1237						Silent	SNP	ENST00000308059.6	37	c.3711G>A	CCDS2672.2																																																																																				0.617	DLEC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253745.3	NM_007337		10	20	0	0	0	1	0	10	20					A	38155877	G	A	38155877	2	1	368	1	0	0	0	0	0	0	0	1	4552	1103	39	2		2	DLEC1	3	38155877	Silent	SNP	G	TCGA-V1-A8MF-01A-11D-A364-08		38155877	159866553	12	18343											
ANAPC4	29945	broad.mit.edu	37	chr4	25393993	25393993	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgttgtactctttcttacctGaagtaactcggatggccaga	9	14	9	9	1	2	2	0	1	2	1	3	3	2	3	2	2	3	3	2	2	4	5			TCGA-V1-A8MF-01A-11D-A364-08	TCGA-V1-A8MF-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14569e23-59ef-4c2a-abdc-0c162bdfc721	3b55bcae-8653-48b8-b552-b0368b47bac2	g.chr4:25393993G>T	ENST00000315368.3	+	10	881	c.739G>T	c.(739-741)Gaa>Taa	p.E247*	ANAPC4_ENST00000510092.1_Nonsense_Mutation_p.E247*	NM_013367.2	NP_037499.2	Q9UJX5	APC4_HUMAN	anaphase promoting complex subunit 4	247					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein phosphatase binding (GO:0019903)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)	27		Breast(46;0.0503)				TTTCTTACCTGAAGTAACTCG	0.338																																						ENST00000315368.3																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)	27						c.(739-741)Gaa>Taa		anaphase promoting complex subunit 4							149	142	144					4																	25393993		2202	4300	6502	SO:0001587	stop_gained	29945				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|G2/M transition of mitotic cell cycle|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm	protein phosphatase binding|ubiquitin-protein ligase activity	g.chr4:25393993G>T	AF191338	CCDS3434.1, CCDS68684.1	4p15.31	2011-06-15			ENSG00000053900	ENSG00000053900		"Anaphase promoting complex subunits"	19990	protein-coding gene	gene with protein product		606947				6180011	Standard	NM_013367		Approved	APC4	uc003gro.3	Q9UJX5	OTTHUMG00000097753	ENST00000315368.3:c.739G>T	4.37:g.25393993G>T	ENSP00000318775:p.Glu247*					ANAPC4_ENST00000510092.1_Nonsense_Mutation_p.E247*	p.E247*	NM_013367.2	NP_037499.2	Q9UJX5	APC4_HUMAN			10	881	+		Breast(46;0.0503)	247					A8K8H1|E9PCR4|Q6PCC6|Q9NSH6	Nonsense_Mutation	SNP	ENST00000315368.3	37	c.739G>T	CCDS3434.1	.	.	.	.	.	.	.	.	.	.	G	38	6.869708	0.97901	.	.	ENSG00000053900	ENST00000315368;ENST00000510092	.	.	.	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.40728	T	0.16	-28.3794	19.8753	0.96867	0.0:0.0:1.0:0.0	.	.	.	.	X	247	.	ENSP00000318775:E247X	E	+	1	0	ANAPC4	25003091	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.307000	0.96226	2.711000	0.92665	0.655000	0.94253	GAA		0.338	ANAPC4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000214986.1	NM_013367		15	72	1	0	3.99206e-14	1	4.155e-14	15	72					T	25393993	G	T	25393993	4	4	368	1	0	0	0	0	0	1	0	0	604	1291	45	5	773	5	ANAPC4	4	25393993	Nonsense_Mutation	SNP	G	TCGA-V1-A8MF-01A-11D-A364-08		25393993	165760283	13	18344											
RGS7BP	401190	broad.mit.edu	37	chr5	63890653	63890653	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atagtcagcaacattcctggCaggtttccacagacattgag	12	10	9	10	0	1	2	1	1	0	1	3	2	3	2	2	2	2	3	2	2	2	4			TCGA-V1-A8MF-01A-11D-A364-08	TCGA-V1-A8MF-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14569e23-59ef-4c2a-abdc-0c162bdfc721	3b55bcae-8653-48b8-b552-b0368b47bac2	g.chr5:63890653C>T	ENST00000334025.2	+	4	906	c.580C>T	c.(580-582)Cag>Tag	p.Q194*		NM_001029875.1|NM_001271890.1|NM_001271891.1	NP_001025046.1|NP_001258819.1|NP_001258820.1	Q6MZT1	R7BP_HUMAN	regulator of G-protein signaling 7 binding protein	194					G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of signal transduction (GO:0009968)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|large_intestine(4)|lung(3)|prostate(1)|skin(1)|stomach(1)	11		Lung NSC(810;0.000518)|Prostate(74;0.0435)|Ovarian(174;0.186)		Lung(70;0.147)		ACATTCCTGGCAGGTTTCCAC	0.483																																						ENST00000334025.2																			0				breast(1)|large_intestine(4)|lung(3)|prostate(1)|skin(1)|stomach(1)	11						c.(580-582)Cag>Tag		regulator of G-protein signaling 7 binding protein							91	88	89					5																	63890653		2203	4300	6503	SO:0001587	stop_gained	401190				negative regulation of signal transduction	cytoplasm|nucleus|plasma membrane		g.chr5:63890653C>T	BX640900	CCDS34170.1	5q12.3	2008-02-05	2007-08-14		ENSG00000186479	ENSG00000186479			23271	protein-coding gene	gene with protein product		610890	"regulator of G-protein signalling 7 binding protein"			15632198	Standard	NM_001271890		Approved	R7BP	uc003jtj.4	Q6MZT1	OTTHUMG00000162293	ENST00000334025.2:c.580C>T	5.37:g.63890653C>T	ENSP00000334851:p.Gln194*						p.Q194*	NM_001029875.1|NM_001271890.1|NM_001271891.1	NP_001025046.1|NP_001258819.1|NP_001258820.1	Q6MZT1	R7BP_HUMAN		Lung(70;0.147)	4	906	+		Lung NSC(810;0.000518)|Prostate(74;0.0435)|Ovarian(174;0.186)	194					B7Z3X1	Nonsense_Mutation	SNP	ENST00000334025.2	37	c.580C>T	CCDS34170.1	.	.	.	.	.	.	.	.	.	.	C	39	7.766549	0.98477	.	.	ENSG00000186479	ENST00000334025	.	.	.	5.87	5.87	0.94306	.	0.114307	0.64402	D	0.000008	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.20046	T	0.44	-9.1819	19.3531	0.94398	0.0:1.0:0.0:0.0	.	.	.	.	X	194	.	ENSP00000334851:Q194X	Q	+	1	0	RGS7BP	63926409	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.427000	0.59888	2.941000	0.99782	0.655000	0.94253	CAG		0.483	RGS7BP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368464.1	NM_001029875		13	33	0	0	0	1	0	13	33					T	63890653	C	T	63890653	4	4	368	1	0	0	0	0	0	1	0	0	13311	711	25	3	594	3	RGS7BP	5	63890653	Nonsense_Mutation	SNP	C	TCGA-V1-A8MF-01A-11D-A364-08		63890653	117024607	14	18345											
PCDHAC1	56135	broad.mit.edu	37	chr5	140308857	140308857	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taggactgaatttgccaataTcctgtattcagattcggaat	12	14	8	7	1	1	2	1	1	0	1	3	4	2	4	2	2	1	1	2	2	6	6	rs560527071	byFrequency	TCGA-V1-A8MF-01A-11D-A364-08	TCGA-V1-A8MF-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14569e23-59ef-4c2a-abdc-0c162bdfc721	3b55bcae-8653-48b8-b552-b0368b47bac2	g.chr5:140308857T>A	ENST00000253807.2	+	1	2380	c.2380T>A	c.(2380-2382)Tcc>Acc	p.S794T	PCDHA5_ENST00000529619.1_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHAC1_ENST00000409700.3_Missense_Mutation_p.S794T|PCDHA12_ENST00000398631.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron	NM_018898.3	NP_061721.2	Q9H158	PCDC1_HUMAN	protocadherin alpha subfamily C, 1	794					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(2)|breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|liver(2)|lung(13)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	65			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTTGCCAATATCCTGTATTCA	0.463																																						ENST00000253807.2																			0				NS(2)|breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|liver(2)|lung(13)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	65						c.(2380-2382)Tcc>Acc									121	113	115					5																	140308857		2203	4300	6503	SO:0001583	missense	0							g.chr5:140308857T>A	AF152473	CCDS4241.1	5q31	2010-11-26			ENSG00000248383	ENSG00000248383		"Cadherins / Protocadherins : Clustered"	8676	other	complex locus constituent	"PCDH-ALPHA-C1"	606320				10380929	Standard	NM_018898		Approved			Q9H158	OTTHUMG00000129603	ENST00000253807.2:c.2380T>A	5.37:g.140308857T>A	ENSP00000253807:p.Ser794Thr					PCDHA13_ENST00000289272.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHAC1_ENST00000409700.3_Missense_Mutation_p.S794T|PCDHA8_ENST00000531613.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA5_ENST00000529619.1_Intron	p.S794T	NM_018898.3	NP_061721.2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2380	+								Q9Y5F5|Q9Y5I5	Missense_Mutation	SNP	ENST00000253807.2	37	c.2380T>A	CCDS4241.1	.	.	.	.	.	.	.	.	.	.	T	10.45	1.354025	0.24512	.	.	ENSG00000248383	ENST00000409700;ENST00000253807	T;T	0.53206	0.63;0.64	5.75	4.58	0.56647	.	.	.	.	.	T	0.33265	0.0857	N	0.22421	0.69	0.21652	N	0.9996	P;P	0.41848	0.761;0.763	B;B	0.42282	0.247;0.382	T	0.07558	-1.0766	9	0.12430	T	0.62	.	9.3181	0.37946	0.0:0.1566:0.0:0.8434	.	794;794	Q9H158;Q9H158-2	PCDC1_HUMAN;.	T	794	ENSP00000386356:S794T;ENSP00000253807:S794T	ENSP00000253807:S794T	S	+	1	0	PCDHAC1	140289041	0.998000	0.40836	0.996000	0.52242	0.978000	0.69477	1.263000	0.33004	1.002000	0.39104	0.460000	0.39030	TCC		0.463	PCDHAC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251798.1	NM_018898		24	64	0	0	0	1	0	24	64					A	140308857	T	A	140308857	3	1	368	1	0	0	0	0	1	0	0	0	11532	1435	50	5	2382	5	PCDHAC1	5	140308857	Missense_Mutation	SNP	T	TCGA-V1-A8MF-01A-11D-A364-08	76418204	140308857	40606403	15	18346											
SKIV2L	6499	broad.mit.edu	37	chr6	31937454	31937454	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcggctaccttgctacggCgggacatcgtatttgcggcc	6	9	13	13	5	0	0	0	0	0	0	1	1	0	1	2	4	5	3	2	4	3	5			TCGA-V1-A8MF-01A-11D-A364-08	TCGA-V1-A8MF-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14569e23-59ef-4c2a-abdc-0c162bdfc721	3b55bcae-8653-48b8-b552-b0368b47bac2	g.chr6:31937454C>T	ENST00000375394.2	+	28	3816	c.3703C>T	c.(3703-3705)Cgg>Tgg	p.R1235W	SKIV2L_ENST00000544581.1_Missense_Mutation_p.R1042W|STK19_ENST00000375333.2_5'Flank|STK19_ENST00000375331.2_5'Flank|DXO_ENST00000478221.1_5'Flank	NM_006929.4	NP_008860.4	Q15477	SKIV2_HUMAN	superkiller viralicidic activity 2-like (S. cerevisiae)	1235					ATP catabolic process (GO:0006200)	nucleus (GO:0005634)|Ski complex (GO:0055087)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|RNA binding (GO:0003723)			breast(1)|central_nervous_system(1)|large_intestine(1)|ovary(1)	4						CTTGCTACGGCGGGACATCGT	0.577																																						ENST00000375394.2																			0				breast(1)|central_nervous_system(1)|large_intestine(1)|ovary(1)	4						c.(3703-3705)Cgg>Tgg		superkiller viralicidic activity 2-like (S. cerevisiae)							66	69	68					6																	31937454		1510	2709	4219	SO:0001583	missense	6499					nucleus	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding	g.chr6:31937454C>T		CCDS4731.1	6p21	2010-02-17	2001-11-28		ENSG00000204351	ENSG00000204351			10898	protein-coding gene	gene with protein product		600478	"superkiller viralicidic activity 2 (S. cerevisiae homolog)-like"	SKIV2		7759100, 9799600	Standard	XM_006715168		Approved	HLP, DDX13, SKI2W, 170A	uc003nyn.1	Q15477	OTTHUMG00000031146	ENST00000375394.2:c.3703C>T	6.37:g.31937454C>T	ENSP00000364543:p.Arg1235Trp					SKIV2L_ENST00000544581.1_Missense_Mutation_p.R1042W	p.R1235W	NM_006929.4	NP_008860.4	Q15477	SKIV2_HUMAN			28	3816	+			1235					O15005|Q12902|Q15476|Q5ST66	Missense_Mutation	SNP	ENST00000375394.2	37	c.3703C>T	CCDS4731.1	.	.	.	.	.	.	.	.	.	.	C	15.36	2.811180	0.50527	.	.	ENSG00000204351	ENST00000375394;ENST00000433155;ENST00000544581	T;T	0.58652	0.32;0.32	5.52	0.13	0.14746	DSH, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.76521	0.3999	M	0.93898	3.47	0.49051	D	0.999748	D	0.89917	1.0	D	0.97110	1.0	D	0.84706	0.0731	10	0.87932	D	0	-28.0131	17.9425	0.89029	0.8098:0.1902:0.0:0.0	.	1235	Q15477	SKIV2_HUMAN	W	1235;1077;1042	ENSP00000364543:R1235W;ENSP00000442645:R1042W	ENSP00000364543:R1235W	R	+	1	2	SKIV2L	32045433	0.999000	0.42202	0.620000	0.29132	0.870000	0.49936	0.762000	0.26503	-0.300000	0.08895	-0.181000	0.13052	CGG		0.577	SKIV2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076264.3			4	57	0	0	0	1	0	4	57					T	31937454	C	T	31937454	3	4	368	1	0	0	0	0	1	0	0	0	14359	759	27	1	3813	1	SKIV2L	6	31937454	Missense_Mutation	SNP	C	TCGA-V1-A8MF-01A-11D-A364-08		31937454	139177613	16	18347											
SYNE1	23345	broad.mit.edu	37	chr6	152615148	152615148	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atcacccagtttggcagtagCggatggctccaatcccggtt	8	10	11	12	2	1	0	1	0	0	0	3	1	3	1	3	4	1	5	3	4	2	3	rs113962905		TCGA-V1-A8MF-01A-11D-A364-08	TCGA-V1-A8MF-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14569e23-59ef-4c2a-abdc-0c162bdfc721	3b55bcae-8653-48b8-b552-b0368b47bac2	g.chr6:152615148C>T	ENST00000367255.5	-	94	18398	c.17797G>A	c.(17797-17799)Gct>Act	p.A5933T	SYNE1_ENST00000448038.1_Missense_Mutation_p.A5862T|SYNE1_ENST00000341594.5_Missense_Mutation_p.A5545T|SYNE1_ENST00000265368.4_Missense_Mutation_p.A5933T|SYNE1_ENST00000356820.4_Missense_Mutation_p.A457T|SYNE1_ENST00000423061.1_Missense_Mutation_p.A5862T	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	5933					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TTGGCAGTAGCGGATGGCTCC	0.502										HNSCC(10;0.0054)			C|||	1	0.000199681	8e-04	0	5008	,	,		15680	0		0	False		,,,				2504	0					ENST00000367255.5																			0				NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524						c.(17797-17799)Gct>Act		spectrin repeat containing, nuclear envelope 1		C	THR/ALA,THR/ALA	0,4406		0,0,2203	98	92	94		17584,17797	2.6	0.7	6	dbSNP_132	94	9,8591	7.1+/-27.0	0,9,4291	yes	missense,missense	SYNE1	NM_033071.3,NM_182961.3	58,58	0,9,6494	TT,TC,CC		0.1047,0.0,0.0692	benign,benign	5862/8750,5933/8798	152615148	9,12997	2203	4300	6503	SO:0001583	missense	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152615148C>T	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"myocyte nuclear envelope protein 1", "nuclear envelope spectrin repeat-1"	608441	"chromosome 6 open reading frame 98"	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.17797G>A	6.37:g.152615148C>T	ENSP00000356224:p.Ala5933Thr	HNSCC(10;0.0054)				SYNE1_ENST00000448038.1_Missense_Mutation_p.A5862T|SYNE1_ENST00000423061.1_Missense_Mutation_p.A5862T|SYNE1_ENST00000341594.5_Missense_Mutation_p.A5545T|SYNE1_ENST00000265368.4_Missense_Mutation_p.A5933T|SYNE1_ENST00000356820.4_Missense_Mutation_p.A457T	p.A5933T	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	94	18398	-		Ovarian(120;0.0955)	5933					E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	c.17797G>A	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	C	11.46	1.644603	0.29246	0.0	0.001047	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000356820;ENST00000540663;ENST00000537033	T;T;T;T;T;T;T	0.34275	1.37;1.37;1.37;1.37;1.37;1.37;1.37	4.49	2.58	0.30949	.	0.139342	0.31922	N	0.006843	T	0.10723	0.0262	L	0.35723	1.085	0.35495	D	0.799305	B;B;B;B	0.16396	0.006;0.01;0.01;0.017	B;B;B;B	0.15052	0.003;0.005;0.005;0.012	T	0.09185	-1.0686	10	0.15952	T	0.53	.	9.5183	0.39120	0.0:0.748:0.0:0.252	.	348;5933;5933;5862	B7ZBD0;Q8NF91;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.	T	5933;5862;5933;5862;5545;457;108;155	ENSP00000356224:A5933T;ENSP00000396024:A5862T;ENSP00000265368:A5933T;ENSP00000390975:A5862T;ENSP00000341887:A5545T;ENSP00000349276:A457T;ENSP00000437411:A108T	ENSP00000265368:A5933T	A	-	1	0	SYNE1	152656841	0.929000	0.31497	0.657000	0.29651	0.891000	0.51852	1.088000	0.30877	0.939000	0.37446	0.655000	0.94253	GCT		0.502	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		23	63	0	0	0	1	0	23	63					T	152615148	C	T	152615148	3	4	368	1	0	0	0	0	1	0	0	0	15442	768	27	1	8881	1	SYNE1	6	152615148	Missense_Mutation	SNP	C	TCGA-V1-A8MF-01A-11D-A364-08	120677694	152615148	18499919	17	18348											
SYNE1	23345	broad.mit.edu	37	chr6	152751250	152751250	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttgaagcatactcttaccatAtgttcttgaagaactttgta	12	16	6	7	0	2	3	0	2	2	1	2	3	2	3	1	0	4	3	1	0	7	8			TCGA-V1-A8MF-01A-11D-A364-08	TCGA-V1-A8MF-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14569e23-59ef-4c2a-abdc-0c162bdfc721	3b55bcae-8653-48b8-b552-b0368b47bac2	g.chr6:152751250A>T	ENST00000367255.5	-	36	5386	c.4785T>A	c.(4783-4785)caT>caA	p.H1595Q	SYNE1_ENST00000448038.1_Missense_Mutation_p.H1602Q|SYNE1_ENST00000341594.5_Missense_Mutation_p.H1665Q|SYNE1_ENST00000265368.4_Missense_Mutation_p.H1595Q|SYNE1_ENST00000423061.1_Missense_Mutation_p.H1602Q|SYNE1_ENST00000367253.4_Missense_Mutation_p.H1595Q	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	1595					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CTCTTACCATATGTTCTTGAA	0.289										HNSCC(10;0.0054)																												ENST00000367255.5																			0				NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524						c.(4783-4785)caT>caA		spectrin repeat containing, nuclear envelope 1							47	45	46					6																	152751250		2200	4289	6489	SO:0001583	missense	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152751250A>T	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"myocyte nuclear envelope protein 1", "nuclear envelope spectrin repeat-1"	608441	"chromosome 6 open reading frame 98"	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.4785T>A	6.37:g.152751250A>T	ENSP00000356224:p.His1595Gln	HNSCC(10;0.0054)				SYNE1_ENST00000448038.1_Missense_Mutation_p.H1602Q|SYNE1_ENST00000423061.1_Missense_Mutation_p.H1602Q|SYNE1_ENST00000341594.5_Missense_Mutation_p.H1665Q|SYNE1_ENST00000367253.4_Missense_Mutation_p.H1595Q|SYNE1_ENST00000265368.4_Missense_Mutation_p.H1595Q	p.H1595Q	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	36	5386	-		Ovarian(120;0.0955)	1595					E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	c.4785T>A	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	A	12.66	2.004944	0.35415	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000367253	T;T;T;T;T;T	0.58940	0.3;0.3;0.3;0.3;0.3;0.3	5.97	0.906	0.19314	.	0.189058	0.37530	N	0.002051	T	0.50718	0.1632	M	0.61703	1.905	0.80722	D	1	D;D;D;D;D	0.69078	0.991;0.995;0.986;0.995;0.997	P;P;P;P;D	0.66602	0.559;0.883;0.744;0.883;0.945	T	0.50065	-0.8871	10	0.27082	T	0.32	.	5.527	0.16962	0.5073:0.1439:0.3487:0.0	.	1578;1595;1595;1595;1602	B3W695;Q8NF91;Q8NF91-6;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.;.	Q	1595;1602;1595;1602;1665;1595	ENSP00000356224:H1595Q;ENSP00000396024:H1602Q;ENSP00000265368:H1595Q;ENSP00000390975:H1602Q;ENSP00000341887:H1665Q;ENSP00000356222:H1595Q	ENSP00000265368:H1595Q	H	-	3	2	SYNE1	152792943	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.848000	0.39309	0.141000	0.18875	0.528000	0.53228	CAT		0.289	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		17	31	0	0	0	1	0	17	31					T	152751250	A	T	152751250	3	4	368	1	0	0	0	0	1	0	0	0	15442	446	16	5	22125	5	SYNE1	6	152751250	Missense_Mutation	SNP	A	TCGA-V1-A8MF-01A-11D-A364-08	136102	152751250	18363817	18	18349											
OR2A2	442361	broad.mit.edu	37	chr7	143807097	143807097	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catgagctggagagtgtgcaCgatcctggttctcacgtcct	7	11	12	11	2	1	2	1	1	1	1	4	4	3	2	2	2	2	3	2	2	0	1	rs187987538	byFrequency	TCGA-V1-A8MF-01A-11D-A364-08	TCGA-V1-A8MF-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14569e23-59ef-4c2a-abdc-0c162bdfc721	3b55bcae-8653-48b8-b552-b0368b47bac2	g.chr7:143807097C>T	ENST00000408979.2	+	1	491	c.422C>T	c.(421-423)aCg>aTg	p.T141M		NM_001005480.2	NP_001005480.2	Q6IF42	OR2A2_HUMAN	olfactory receptor, family 2, subfamily A, member 2	141						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)|skin(4)	22	Melanoma(164;0.0783)					AGAGTGTGCACGATCCTGGTT	0.522													.|||	2	0.000399361	0	0	5008	,	,		20161	0		0.002	False		,,,				2504	0					ENST00000408979.2																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)|skin(4)	22						c.(421-423)aCg>aTg		olfactory receptor, family 2, subfamily A, member 2		C	MET/THR	1,4183		0,1,2091	143	134	137		422	-5.4	0	7		137	0,8492		0,0,4246	no	missense	OR2A2	NM_001005480.2	81	0,1,6337	TT,TC,CC		0.0,0.0239,0.0079	benign	141/319	143807097	1,12675	2092	4246	6338	SO:0001583	missense	442361				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr7:143807097C>T		CCDS43671.1	7q35	2013-09-20		2004-03-10	ENSG00000221989	ENSG00000221989		"GPCR / Class A : Olfactory receptors"	8230	protein-coding gene	gene with protein product				OR2A2P, OR2A17P			Standard	NM_001005480		Approved	OST008	uc011ktz.2	Q6IF42	OTTHUMG00000158001	ENST00000408979.2:c.422C>T	7.37:g.143807097C>T	ENSP00000386209:p.Thr141Met						p.T141M	NM_001005480.2	NP_001005480.2	Q6IF42	OR2A2_HUMAN			1	491	+	Melanoma(164;0.0783)		141					B2RN85|Q8NGT6	Missense_Mutation	SNP	ENST00000408979.2	37	c.422C>T	CCDS43671.1	2	9.157509157509158E-4	0	0.0	0	0.0	0	0.0	2	0.002638522427440633	C	0.492	-0.874850	0.02550	2.39E-4	0.0	ENSG00000221989	ENST00000408979	T	0.37411	1.2	3.61	-5.45	0.02616	GPCR, rhodopsin-like superfamily (1);	2.342790	0.03063	N	0.156175	T	0.21145	0.0509	N	0.20610	0.595	0.09310	N	1	B	0.33379	0.41	B	0.32533	0.147	T	0.12372	-1.0550	10	0.36615	T	0.2	4.3335	5.9787	0.19395	0.1276:0.3509:0.0:0.5215	.	141	Q6IF42	OR2A2_HUMAN	M	141	ENSP00000386209:T141M	ENSP00000386209:T141M	T	+	2	0	OR2A2	143438030	0.000000	0.05858	0.000000	0.03702	0.015000	0.08874	-3.114000	0.00598	-1.583000	0.01638	-1.820000	0.00599	ACG		0.522	OR2A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349978.1			15	65	0	0	0	1	0	15	65					T	143807097	C	T	143807097	3	4	368	1	0	0	0	0	1	0	0	0	10977	536	19	1	424	1	OR2A2	7	143807097	Missense_Mutation	SNP	C	TCGA-V1-A8MF-01A-11D-A364-08		143807097	15331566	19	18350											
SSPO	23145	broad.mit.edu	37	chr7	149512845	149512846	+	RNA	INS	-	-	AGGTGGTC																															ggagagcctggaacccggagINSaggtggtcactgggccatgt																								rs377097685|rs146626309	byFrequency	TCGA-V1-A8MF-01A-11D-A364-08	TCGA-V1-A8MF-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14569e23-59ef-4c2a-abdc-0c162bdfc721	3b55bcae-8653-48b8-b552-b0368b47bac2	g.chr7:149512845_149512846insAGGTGGTC	ENST00000378016.2	+	0	10852_10853							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion (GO:0007155)	extracellular space (GO:0005615)	peptidase inhibitor activity (GO:0030414)					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			GGAACCCGGAGAGGTGGTCACT	0.653														123	0.0245607	0.087	0.0101	5008	,	,		13791	0		0	False		,,,				2504	0.001					ENST00000378016.2																			0													SCO-spondin				258,3344		25,208,1568						4.3	0.6		dbSNP_134	26	5,7831		0,5,3913	no	frameshift	SSPO	NM_198455.2		25,213,5481	A1A1,A1R,RR		0.0638,7.1627,2.2994				263,11175						23145				cell adhesion	extracellular space	peptidase inhibitor activity	g.chr7:149512845_149512846insAGGTGGTC	AK093431		7q36.1	2013-08-07	2013-08-06		ENSG00000197558	ENSG00000197558			21998	protein-coding gene	gene with protein product	"subcommissural organ spondin", "SCO protein, thrombospondin domain containing"		"SCO-spondin homolog (Bos taurus)"			8743952, 11008217	Standard	NM_198455		Approved	SCO-spondin, KIAA0543, FLJ36112	uc010lpk.3	A2VEC9	OTTHUMG00000157884		7.37:g.149512846_149512853dupAGGTGGTC										A2VEC9	SSPO_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00625)		0	10852_10853	+	Melanoma(164;0.165)|Ovarian(565;0.177)							Q76B61	RNA	INS	ENST00000378016.2	37																																																																																						0.653	SSPO-202	KNOWN	basic	processed_transcript	processed_transcript				3	5						3	5	---	---	---	---	AGGTGGTC	149512846	-	AGGTGGTC	149512845	6	5	368	0	1	1	1	0	0	0	0	0	15188	943	33	0		0	SSPO	7	149512845	RNA	INS	-	TCGA-V1-A8MF-01A-11D-A364-08	5705748	149512845	9625818	20	18351											
LINGO2	158038	broad.mit.edu	37	chr9	27948877	27948877	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ttttcatgttgaacctcctgGgtccagctacctccccttcc	5	14	6	16	0	1	1	1	1	0	0	5	1	5	1	7	1	3	2	7	1	2	5			TCGA-V1-A8MF-01A-11D-A364-08	TCGA-V1-A8MF-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14569e23-59ef-4c2a-abdc-0c162bdfc721	3b55bcae-8653-48b8-b552-b0368b47bac2	g.chr9:27948877G>T	ENST00000379992.2	-	6	2242	c.1793C>A	c.(1792-1794)cCc>cAc	p.P598H	LINGO2_ENST00000308675.3_Missense_Mutation_p.P598H	NM_152570.2	NP_689783.1	Q7L985	LIGO2_HUMAN	leucine rich repeat and Ig domain containing 2	598						integral component of membrane (GO:0016021)				autonomic_ganglia(1)|breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	44	Melanoma(11;0.242)	all_neural(11;2.78e-09)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0818)|GBM - Glioblastoma multiforme(2;1.31e-34)|all cancers(2;2.37e-25)|Lung(2;7.48e-08)|LUSC - Lung squamous cell carcinoma(38;5.09e-07)|KIRC - Kidney renal clear cell carcinoma(2;0.0465)|Kidney(2;0.0604)		GAACCTCCTGGGTCCAGCTAC	0.463																																						ENST00000379992.2																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	44						c.(1792-1794)cCc>cAc		leucine rich repeat and Ig domain containing 2							138	123	128					9																	27948877		2203	4300	6503	SO:0001583	missense	158038					integral to membrane		g.chr9:27948877G>T	AL353746	CCDS6524.1	9p21.2	2013-01-11	2007-02-01	2007-02-01	ENSG00000174482	ENSG00000174482		"Immunoglobulin superfamily / I-set domain containing"	21207	protein-coding gene	gene with protein product		609793	"leucine rich repeat neuronal 6C"	LRRN6C		14686891	Standard	NM_152570		Approved	LERN3	uc003zqu.2	Q7L985	OTTHUMG00000019721	ENST00000379992.2:c.1793C>A	9.37:g.27948877G>T	ENSP00000369328:p.Pro598His					LINGO2_ENST00000308675.3_Missense_Mutation_p.P598H	p.P598H	NM_152570.2	NP_689783.1	Q7L985	LIGO2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (5;0.0818)|GBM - Glioblastoma multiforme(2;1.31e-34)|all cancers(2;2.37e-25)|Lung(2;7.48e-08)|LUSC - Lung squamous cell carcinoma(38;5.09e-07)|KIRC - Kidney renal clear cell carcinoma(2;0.0465)|Kidney(2;0.0604)	6	2242	-	Melanoma(11;0.242)	all_neural(11;2.78e-09)	598					A8K4K7|B2RPM5|Q6ZMD0	Missense_Mutation	SNP	ENST00000379992.2	37	c.1793C>A	CCDS6524.1	.	.	.	.	.	.	.	.	.	.	G	18.14	3.558690	0.65538	.	.	ENSG00000174482	ENST00000379992;ENST00000308675	T;T	0.58358	0.34;0.34	6.07	6.07	0.98685	.	0.054630	0.85682	D	0.000000	T	0.65933	0.2739	L	0.55481	1.735	0.80722	D	1	D	0.64830	0.994	P	0.58928	0.848	T	0.60890	-0.7173	9	.	.	.	.	18.8245	0.92111	0.0:0.0:1.0:0.0	.	598	Q7L985	LIGO2_HUMAN	H	598	ENSP00000369328:P598H;ENSP00000310126:P598H	.	P	-	2	0	LINGO2	27938877	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.869000	0.99810	2.884000	0.98904	0.655000	0.94253	CCC		0.463	LINGO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051978.2	NM_152570		27	70	1	0	1.32181e-22	1	1.4343e-22	27	70					T	27948877	G	T	27948877	3	4	368	1	0	0	0	0	1	0	0	0	8815	1232	43	5	31	5	LINGO2	9	27948877	Missense_Mutation	SNP	G	TCGA-V1-A8MF-01A-11D-A364-08		27948877	113264554	21	18352											
BAAT	570	broad.mit.edu	37	chr9	104133252	104133252	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aagagagctcctcgaaggcgGccttctcgaaccttaattcg	10	9	10	12	4	1	1	0	0	1	1	5	4	2	1	3	2	2	1	3	2	4	3			TCGA-V1-A8MF-01A-11D-A364-08	TCGA-V1-A8MF-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14569e23-59ef-4c2a-abdc-0c162bdfc721	3b55bcae-8653-48b8-b552-b0368b47bac2	g.chr9:104133252G>A	ENST00000395051.3	-	1	505	c.435C>T	c.(433-435)ggC>ggT	p.G145G	BAAT_ENST00000259407.2_Silent_p.G145G			Q14032	BAAT_HUMAN	bile acid CoA:amino acid N-acyltransferase	145					acyl-CoA metabolic process (GO:0006637)|bile acid and bile salt transport (GO:0015721)|bile acid biosynthetic process (GO:0006699)|bile acid conjugation (GO:0002152)|bile acid metabolic process (GO:0008206)|fatty acid metabolic process (GO:0006631)|glycine metabolic process (GO:0006544)|liver development (GO:0001889)|organ regeneration (GO:0031100)|small molecule metabolic process (GO:0044281)|taurine metabolic process (GO:0019530)	cytosol (GO:0005829)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	carboxylic ester hydrolase activity (GO:0052689)|glycine N-choloyltransferase activity (GO:0047963)|long-chain acyl-CoA hydrolase activity (GO:0052816)|medium-chain acyl-CoA hydrolase activity (GO:0052815)|N-acyltransferase activity (GO:0016410)|palmitoyl-CoA hydrolase activity (GO:0016290)|receptor binding (GO:0005102)|very long chain acyl-CoA hydrolase activity (GO:0052817)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	23		Acute lymphoblastic leukemia(62;0.0559)			Glycine(DB00145)	CTCGAAGGCGGCCTTCTCGAA	0.438																																						ENST00000259407.2																			0				breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	23						c.(433-435)ggC>ggT		bile acid CoA: amino acid N-acyltransferase (glycine N-choloyltransferase)	Glycine(DB00145)						83	83	83					9																	104133252		2203	4300	6503	SO:0001819	synonymous_variant	570				acyl-CoA metabolic process|bile acid and bile salt transport|bile acid biosynthetic process|digestion|fatty acid metabolic process|glycine metabolic process	cytosol|peroxisomal matrix	carboxylesterase activity|glycine N-choloyltransferase activity|N-acyltransferase activity|palmitoyl-CoA hydrolase activity	g.chr9:104133252G>A	L34081	CCDS6752.1	9q22.3	2014-06-24	2014-06-24		ENSG00000136881	ENSG00000136881	2.3.1.65		932	protein-coding gene	gene with protein product	"glycine N-choloyltransferase"	602938	"bile acid Coenzyme A:amino acid N-acyltransferase (glycine N-choloyltransferase)", "bile acid CoA: amino acid N-acyltransferase (glycine N-choloyltransferase)"				Standard	NM_001701		Approved	BAT	uc010mtd.3	Q14032	OTTHUMG00000020377	ENST00000395051.3:c.435C>T	9.37:g.104133252G>A						BAAT_ENST00000395051.3_Silent_p.G145G	p.G145G	NM_001127610.1|NM_001701.3	NP_001121082.1|NP_001692.1	Q14032	BAAT_HUMAN			2	543	-		Acute lymphoblastic leukemia(62;0.0559)	145					Q3B7W9|Q96L31	Silent	SNP	ENST00000395051.3	37	c.435C>T	CCDS6752.1																																																																																				0.438	BAAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053433.1			3	50	0	0	0	1	0	3	50					A	104133252	G	A	104133252	2	1	368	1	0	0	0	0	0	0	0	1	1280	1190	42	3		3	BAAT	9	104133252	Silent	SNP	G	TCGA-V1-A8MF-01A-11D-A364-08	76184375	104133252	37080179	22	18353											
SVEP1	79987	broad.mit.edu	37	chr9	113208175	113208175	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gttatcaactgcataggagaTtggtgttccatagttcatgt	10	15	10	6	0	2	1	2	0	0	1	3	2	3	1	1	2	2	4	1	2	4	6			TCGA-V1-A8MF-01A-11D-A364-08	TCGA-V1-A8MF-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14569e23-59ef-4c2a-abdc-0c162bdfc721	3b55bcae-8653-48b8-b552-b0368b47bac2	g.chr9:113208175T>C	ENST00000401783.2	-	26	4741	c.4405A>G	c.(4405-4407)Atc>Gtc	p.I1469V	SVEP1_ENST00000302728.8_Missense_Mutation_p.I1469V|SVEP1_ENST00000467821.1_5'UTR|SVEP1_ENST00000374469.1_Missense_Mutation_p.I1446V	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	1469	Pentaxin.				cell adhesion (GO:0007155)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|chromatin binding (GO:0003682)			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						GCATAGGAGATTGGTGTTCCA	0.453																																						ENST00000401783.2																			0				NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						c.(4405-4407)Atc>Gtc		sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1							175	168	170					9																	113208175		1964	4168	6132	SO:0001583	missense	79987				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding	g.chr9:113208175T>C	AK027870		9q31-q32	2008-02-05	2005-03-15	2005-03-17	ENSG00000165124	ENSG00000165124			15985	protein-coding gene	gene with protein product		611691	"chromosome 9 open reading frame 13"	C9orf13			Standard	NM_153366		Approved	bA427L11.3, POLYDOM, FLJ13529	uc010mtz.3	Q4LDE5	OTTHUMG00000020482	ENST00000401783.2:c.4405A>G	9.37:g.113208175T>C	ENSP00000384917:p.Ile1469Val					SVEP1_ENST00000467821.1_5'UTR|SVEP1_ENST00000302728.8_Missense_Mutation_p.I1469V|SVEP1_ENST00000374469.1_Missense_Mutation_p.I1446V	p.I1469V	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN			26	4741	-			1469			Pentaxin.		Q0P675|Q5D213|Q5T938|Q5VTE4|Q5VTE5|Q7Z387|Q7Z3G3|Q8NBT9|Q96JU7|Q9H284|Q9H8J9	Missense_Mutation	SNP	ENST00000401783.2	37	c.4405A>G	CCDS48004.1	.	.	.	.	.	.	.	.	.	.	T	11.94	1.788469	0.31685	.	.	ENSG00000165124	ENST00000401783;ENST00000374469;ENST00000302728	T;T;T	0.73897	3.31;3.31;-0.79	5.5	5.5	0.81552	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);	0.099685	0.64402	D	0.000002	T	0.57154	0.2034	N	0.13272	0.32	0.29260	N	0.871389	B;B	0.16166	0.011;0.016	B;B	0.23574	0.047;0.017	T	0.50759	-0.8790	10	0.22109	T	0.4	.	11.0294	0.47763	0.0:0.0728:0.0:0.9272	.	1469;1469	E9PBN8;Q4LDE5	.;SVEP1_HUMAN	V	1469;1446;1469	ENSP00000384917:I1469V;ENSP00000363593:I1446V;ENSP00000304118:I1469V	ENSP00000304118:I1469V	I	-	1	0	SVEP1	112247996	0.998000	0.40836	0.991000	0.47740	0.723000	0.41478	2.983000	0.49345	2.219000	0.72066	0.533000	0.62120	ATC		0.453	SVEP1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				18	49	0	0	0	1	0	18	49					C	113208175	T	C	113208175	3	2	368	1	0	0	0	0	1	0	0	0	15417	1493	52	4	6402	4	SVEP1	9	113208175	Missense_Mutation	SNP	T	TCGA-V1-A8MF-01A-11D-A364-08	9074923	113208175	28005256	23	18354											
DNA2	1763	broad.mit.edu	37	chr10	70231685	70231685	+	5'Flank	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaccgggggtaacacagaaaGcttagaaaagggaaaaaggc	19	3	13	6	1	0	2	0	0	0	2	0	3	0	3	1	4	3	2	1	4	8	2			TCGA-V1-A8MF-01A-11D-A364-08	TCGA-V1-A8MF-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14569e23-59ef-4c2a-abdc-0c162bdfc721	3b55bcae-8653-48b8-b552-b0368b47bac2	g.chr10:70231685G>A	ENST00000358410.3	-	0	0				DNA2_ENST00000399180.2_Silent_p.S65S|DNA2_ENST00000399179.2_5'UTR	NM_001080449.2	NP_001073918.2	P51530	DNA2_HUMAN	DNA replication helicase/nuclease 2						ATP catabolic process (GO:0006200)|base-excision repair (GO:0006284)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA double-strand break processing (GO:0000729)|DNA duplex unwinding (GO:0032508)|DNA replication (GO:0006260)|DNA replication checkpoint (GO:0000076)|DNA replication, Okazaki fragment processing (GO:0033567)|DNA replication, removal of RNA primer (GO:0043137)|DNA strand elongation involved in DNA replication (GO:0006271)|mitochondrial DNA repair (GO:0043504)|mitochondrial DNA replication (GO:0006264)|mitotic cell cycle (GO:0000278)|positive regulation of DNA replication (GO:0045740)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)	mitochondrial nucleoid (GO:0042645)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|5'-3' DNA helicase activity (GO:0043139)|5'-flap endonuclease activity (GO:0017108)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|nuclease activity (GO:0004518)|single-stranded DNA-dependent ATPase activity (GO:0043142)|site-specific endodeoxyribonuclease activity, specific for altered base (GO:0016890)			breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(7)|prostate(1)	20						AACACAGAAAGCTTAGAAAAG	0.617																																						ENST00000399180.2																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(7)|prostate(1)	20						c.(193-195)agC>agT		DNA replication helicase/nuclease 2							31	36	34					10																	70231685		1867	4090	5957	SO:0001631	upstream_gene_variant	1763				base-excision repair|DNA replication, removal of RNA primer|mitochondrial DNA repair|mitochondrial DNA replication|positive regulation of DNA replication|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	mitochondrial nucleoid|nucleoplasm	5'-flap endonuclease activity|ATP binding|ATP-dependent DNA helicase activity|DNA binding|site-specific endodeoxyribonuclease activity, specific for altered base	g.chr10:70231685G>A	D42046	CCDS44415.1, CCDS44415.2	10q21.3-q22.1	2013-05-13	2013-05-13	2008-01-08	ENSG00000138346	ENSG00000138346			2939	protein-coding gene	gene with protein product		601810	"DNA2 DNA replication helicase 2-like (yeast)", "DNA replication helicase 2 homolog (yeast)"	DNA2L		8938459, 17032657, 23352259	Standard	NM_001080449		Approved	KIAA0083	uc031pvh.1	P51530	OTTHUMG00000018352		10.37:g.70231685G>A	Exception_encountered					DNA2_ENST00000399179.2_5'UTR	p.S65S			P51530	DNA2L_HUMAN			1	194	-			0					Q2NKM1|Q5TC49|Q5TC50|Q6P455|Q6PI80|Q7Z6H9|Q8N346	Silent	SNP	ENST00000358410.3	37	c.195C>T																																																																																					0.617	DNA2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000048334.2			6	20	0	0	0	1	0	6	20					A	70231685	G	A	70231685	1	1	368	0	1	0	0	0	0	0	0	0	4596	962	34	3		3	DNA2	10	70231685	5'Flank	SNP	G	TCGA-V1-A8MF-01A-11D-A364-08		70231685	65303062	24	18355											
SORCS1	114815	broad.mit.edu	37	chr10	108367021	108367021	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggtaagccagggagcaccGccaccaggatgtgctggcct	8	6	15	12	1	0	0	0	0	0	0	0	2	0	2	5	4	3	3	5	4	1	1			TCGA-V1-A8MF-01A-11D-A364-08	TCGA-V1-A8MF-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14569e23-59ef-4c2a-abdc-0c162bdfc721	3b55bcae-8653-48b8-b552-b0368b47bac2	g.chr10:108367021G>A	ENST00000263054.6	-	23	3075	c.3068C>T	c.(3067-3069)gCg>gTg	p.A1023V	SORCS1_ENST00000369698.1_Missense_Mutation_p.A558V|SORCS1_ENST00000478809.2_5'UTR|SORCS1_ENST00000344440.6_Missense_Mutation_p.A1023V	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN	sortilin-related VPS10 domain containing receptor 1	1023					neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	neuropeptide receptor activity (GO:0008188)			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		AGGGAGCACCGCCACCAGGAT	0.552																																						ENST00000263054.6																			0				breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127						c.(3067-3069)gCg>gTg		sortilin-related VPS10 domain containing receptor 1							66	63	64					10																	108367021		2203	4300	6503	SO:0001583	missense	114815					integral to membrane	neuropeptide receptor activity|protein binding	g.chr10:108367021G>A	AF284756	CCDS7559.1	10q23-q25	2004-04-20			ENSG00000108018	ENSG00000108018			16697	protein-coding gene	gene with protein product		606283				11499680	Standard	NM_001206570		Approved	sorCS1	uc001kyl.3	Q8WY21	OTTHUMG00000019018	ENST00000263054.6:c.3068C>T	10.37:g.108367021G>A	ENSP00000263054:p.Ala1023Val					SORCS1_ENST00000344440.6_Missense_Mutation_p.A1023V|SORCS1_ENST00000369698.1_Missense_Mutation_p.A558V|SORCS1_ENST00000478809.2_5'UTR	p.A1023V	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN		Epithelial(162;1.66e-05)|all cancers(201;0.000689)	23	3075	-		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)	1023					A2RRF4|Q59GG7|Q5JVT7|Q5JVT8|Q5VY14|Q86WQ1|Q86WQ2|Q9H1Y1|Q9H1Y2	Missense_Mutation	SNP	ENST00000263054.6	37	c.3068C>T	CCDS7559.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.37|13.37	2.217666|2.217666	0.39201|0.39201	.|.	.|.	ENSG00000108018|ENSG00000108018	ENST00000369698;ENST00000263054;ENST00000344440|ENST00000452214	T;T;T|.	0.20881|.	2.04;2.57;2.59|.	5.92|5.92	5.92|5.92	0.95590|0.95590	.|.	0.059080|.	0.64402|.	D|.	0.000002|.	T|T	0.65450|0.65450	0.2692|0.2692	L|L	0.35249|0.35249	1.045|1.045	0.58432|0.58432	D|D	0.999998|0.999998	B;P;P;B;P|.	0.37038|.	0.443;0.579;0.579;0.443;0.579|.	B;B;B;B;B|.	0.31290|.	0.06;0.127;0.127;0.06;0.127|.	T|T	0.58487|0.58487	-0.7628|-0.7628	9|5	.|.	.|.	.|.	-22.0366|-22.0366	19.9164|19.9164	0.97064|0.97064	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	1023;1023;1023;1023;1023|.	A8K182;Q8WY21-4;Q8WY21-3;Q8WY21;Q8WY21-2|.	.;.;.;SORC1_HUMAN;.|.	V|W	558;1023;1023|38	ENSP00000358712:A558V;ENSP00000263054:A1023V;ENSP00000345964:A1023V|.	.|.	A|R	-|-	2|1	0|2	SORCS1|SORCS1	108357011|108357011	1.000000|1.000000	0.71417|0.71417	0.968000|0.968000	0.41197|0.41197	0.742000|0.742000	0.42306|0.42306	8.452000|8.452000	0.90346|0.90346	2.804000|2.804000	0.96469|0.96469	0.655000|0.655000	0.94253|0.94253	GCG|CGG		0.552	SORCS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050232.4	NM_052918		8	20	0	0	0	1	0	8	20					A	108367021	G	A	108367021	3	1	368	1	0	0	0	0	1	0	0	0	14930	1087	38	1	688	1	SORCS1	10	108367021	Missense_Mutation	SNP	G	TCGA-V1-A8MF-01A-11D-A364-08	38135336	108367021	27167726	25	18356											
OR51S1	119692	broad.mit.edu	37	chr11	4870309	4870309	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atttcccagtgcagagagaaGgtagacagcaatgaggggca	14	6	14	7	0	0	4	0	1	0	3	1	5	1	4	1	3	2	4	1	3	3	2			TCGA-V1-A8MF-01A-11D-A364-08	TCGA-V1-A8MF-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14569e23-59ef-4c2a-abdc-0c162bdfc721	3b55bcae-8653-48b8-b552-b0368b47bac2	g.chr11:4870309G>A	ENST00000322101.2	-	1	205	c.130C>T	c.(130-132)Ctt>Ttt	p.L44F	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	NM_001004758.1	NP_001004758.1	Q8NGJ8	O51S1_HUMAN	olfactory receptor, family 51, subfamily S, member 1	44						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(15)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		GCAGAGAGAAGGTAGACAGCA	0.572																																						ENST00000322101.2																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(15)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	33						c.(130-132)Ctt>Ttt		olfactory receptor, family 51, subfamily S, member 1							106	89	95					11																	4870309		2201	4298	6499	SO:0001583	missense	119692				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4870309G>A	AB065796	CCDS31362.1	11p15.4	2012-08-09			ENSG00000176922	ENSG00000176922		"GPCR / Class A : Olfactory receptors"	15204	protein-coding gene	gene with protein product							Standard	NM_001004758		Approved		uc010qyo.2	Q8NGJ8	OTTHUMG00000066506	ENST00000322101.2:c.130C>T	11.37:g.4870309G>A	ENSP00000322754:p.Leu44Phe					MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	p.L44F	NM_001004758.1	NP_001004758.1	Q8NGJ8	O51S1_HUMAN		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)	1	205	-		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)	44					B9EGZ1|Q6IFI2	Missense_Mutation	SNP	ENST00000322101.2	37	c.130C>T	CCDS31362.1	.	.	.	.	.	.	.	.	.	.	G	7.226	0.598292	0.13939	.	.	ENSG00000176922	ENST00000322101	T	0.17213	2.29	5.3	1.1	0.20463	.	0.184221	0.26499	N	0.024036	T	0.07234	0.0183	N	0.08118	0	0.33313	D	0.566299	B	0.19200	0.034	B	0.20384	0.029	T	0.10086	-1.0645	10	0.46703	T	0.11	-5.046	4.6684	0.12676	0.0708:0.2353:0.4527:0.2412	.	44	Q8NGJ8	O51S1_HUMAN	F	44	ENSP00000322754:L44F	ENSP00000322754:L44F	L	-	1	0	OR51S1	4826885	0.003000	0.15002	0.976000	0.42696	0.063000	0.16089	-0.422000	0.07043	0.374000	0.24650	-0.311000	0.09066	CTT		0.572	OR51S1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142179.1	NM_001004758		7	41	0	0	0	1	0	7	41					A	4870309	G	A	4870309	3	1	368	1	0	0	0	0	1	0	0	0	11105	1000	35	3	844	3	OR51S1	11	4870309	Missense_Mutation	SNP	G	TCGA-V1-A8MF-01A-11D-A364-08		4870309	130136207	26	18357											
OR51A7	119687	broad.mit.edu	37	chr11	4928816	4928816	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tggctgtctctgacatgggcCtgtccctctcctcccttcct	2	14	8	17	0	2	1	0	1	2	0	7	1	5	1	5	2	0	1	5	2	0	1			TCGA-V1-A8MF-01A-11D-A364-08	TCGA-V1-A8MF-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14569e23-59ef-4c2a-abdc-0c162bdfc721	3b55bcae-8653-48b8-b552-b0368b47bac2	g.chr11:4928816C>T	ENST00000359350.4	+	1	217	c.217C>T	c.(217-219)Ctg>Ttg	p.L73L	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	NM_001004749.1	NP_001004749.1	Q8NH64	O51A7_HUMAN	olfactory receptor, family 51, subfamily A, member 7	73						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(1)|large_intestine(7)|lung(13)|ovary(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		TGACATGGGCCTGTCCCTCTC	0.468																																						ENST00000359350.4																			0				breast(1)|endometrium(1)|large_intestine(7)|lung(13)|ovary(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33						c.(217-219)Ctg>Ttg		olfactory receptor, family 51, subfamily A, member 7							165	143	151					11																	4928816		2201	4298	6499	SO:0001819	synonymous_variant	119687				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4928816C>T	AB065525	CCDS31364.1	11p15.4	2012-08-09			ENSG00000176895	ENSG00000176895		"GPCR / Class A : Olfactory receptors"	15188	protein-coding gene	gene with protein product							Standard	NM_001004749		Approved		uc010qyq.2	Q8NH64	OTTHUMG00000066502	ENST00000359350.4:c.217C>T	11.37:g.4928816C>T						MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	p.L73L	NM_001004749.1	NP_001004749.1	Q8NH64	O51A7_HUMAN		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)	1	217	+		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)	73					Q6IFH8	Silent	SNP	ENST00000359350.4	37	c.217C>T	CCDS31364.1																																																																																				0.468	OR51A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142175.1	NM_001004749		30	58	0	0	0	1	0	30	58					T	4928816	C	T	4928816	2	4	368	1	0	0	0	0	0	0	0	1	11088	680	24	3		3	OR51A7	11	4928816	Silent	SNP	C	TCGA-V1-A8MF-01A-11D-A364-08	58507	4928816	130077700	27	18358											
OR52H1	390067	broad.mit.edu	37	chr11	5566336	5566336	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gggagtcaagatggtggtatAtctcaagggagaacagatag	14	8	15	4	0	2	3	2	0	1	3	3	5	2	4	0	4	1	1	0	4	6	3			TCGA-V1-A8MF-01A-11D-A364-08	TCGA-V1-A8MF-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14569e23-59ef-4c2a-abdc-0c162bdfc721	3b55bcae-8653-48b8-b552-b0368b47bac2	g.chr11:5566336A>T	ENST00000322653.4	-	1	443	c.418T>A	c.(418-420)Tat>Aat	p.Y140N	HBG2_ENST00000380259.2_Intron	NM_001005289.1	NP_001005289.1	Q8NGJ2	O52H1_HUMAN	olfactory receptor, family 52, subfamily H, member 1	140						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(1)|skin(2)	20		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;5.33e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ATGGTGGTATATCTCAAGGGA	0.438																																						ENST00000322653.4																			0				NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(1)|skin(2)	20						c.(418-420)Tat>Aat		olfactory receptor, family 52, subfamily H, member 1							112	102	106					11																	5566336		2201	4297	6498	SO:0001583	missense	390067				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5566336A>T	AB065802	CCDS31386.1	11p15.4	2012-08-09			ENSG00000181616	ENSG00000181616		"GPCR / Class A : Olfactory receptors"	15218	protein-coding gene	gene with protein product							Standard	NM_001005289		Approved		uc010qzh.2	Q8NGJ2	OTTHUMG00000066909	ENST00000322653.4:c.418T>A	11.37:g.5566336A>T	ENSP00000326259:p.Tyr140Asn					HBG2_ENST00000380259.2_Intron	p.Y140N	NM_001005289.1	NP_001005289.1	Q8NGJ2	O52H1_HUMAN		Epithelial(150;5.33e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	443	-		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)	140					B9EH26|Q6IF79	Missense_Mutation	SNP	ENST00000322653.4	37	c.418T>A	CCDS31386.1	.	.	.	.	.	.	.	.	.	.	A	17.19	3.326609	0.60743	.	.	ENSG00000181616	ENST00000322653	T	0.00388	7.59	5.55	5.55	0.83447	GPCR, rhodopsin-like superfamily (1);	0.000000	0.56097	D	0.000025	T	0.02230	0.0069	H	0.99764	4.76	0.42229	D	0.991889	D	0.89917	1.0	D	0.91635	0.999	T	0.00071	-1.2131	10	0.87932	D	0	.	9.8046	0.40786	0.919:0.0:0.081:0.0	.	140	Q8NGJ2	O52H1_HUMAN	N	140	ENSP00000326259:Y140N	ENSP00000326259:Y140N	Y	-	1	0	OR52H1	5522912	0.976000	0.34144	0.983000	0.44433	0.687000	0.40016	2.803000	0.47924	2.112000	0.64535	0.528000	0.53228	TAT		0.438	OR52H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143400.1	NM_001005289		14	27	0	0	0	1	0	14	27					T	5566336	A	T	5566336	3	4	368	1	0	0	0	0	1	0	0	0	11119	449	16	5	547	5	OR52H1	11	5566336	Missense_Mutation	SNP	A	TCGA-V1-A8MF-01A-11D-A364-08	637520	5566336	129440180	28	18359											
DNAJC4	3338	broad.mit.edu	37	chr11	63999914	63999914	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caccccagctgcacccagacCgggaccctgggaacccaagc	10	2	10	19	1	0	1	0	0	0	1	0	3	0	3	6	2	4	2	6	2	2	0			TCGA-V1-A8MF-01A-11D-A364-08	TCGA-V1-A8MF-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14569e23-59ef-4c2a-abdc-0c162bdfc721	3b55bcae-8653-48b8-b552-b0368b47bac2	g.chr11:63999914C>T	ENST00000321685.3	+	4	658	c.193C>T	c.(193-195)Cgg>Tgg	p.R65W	DNAJC4_ENST00000355040.4_Intron|RP11-783K16.14_ENST00000534988.1_RNA|VEGFB_ENST00000426086.2_5'Flank|DNAJC4_ENST00000321460.5_Missense_Mutation_p.R65W|RP11-783K16.14_ENST00000539963.1_RNA|VEGFB_ENST00000309422.2_5'Flank	NM_005528.3	NP_005519.2	Q9NNZ3	DNJC4_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 4	65	J. {ECO:0000255|PROSITE- ProRule:PRU00286}.				protein folding (GO:0006457)|response to unfolded protein (GO:0006986)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrion (GO:0005739)	unfolded protein binding (GO:0051082)			endometrium(1)|lung(1)|prostate(1)	3						GCACCCAGACCGGGACCCTGG	0.642																																						ENST00000321685.3																			0				endometrium(1)|lung(1)|prostate(1)	3						c.(193-195)Cgg>Tgg		DnaJ (Hsp40) homolog, subfamily C, member 4							30	41	37					11																	63999914		2037	4174	6211	SO:0001583	missense	3338				protein folding|response to unfolded protein	integral to membrane|membrane fraction	heat shock protein binding|unfolded protein binding	g.chr11:63999914C>T	AF012106	CCDS41666.1	11q13	2011-09-02			ENSG00000110011	ENSG00000110011		"Heat shock proteins / DNAJ (HSP40)"	5271	protein-coding gene	gene with protein product		604189		HSPF2		9473517, 11147971	Standard	NM_005528		Approved	MCG18	uc001nys.3	Q9NNZ3	OTTHUMG00000167792	ENST00000321685.3:c.193C>T	11.37:g.63999914C>T	ENSP00000396896:p.Arg65Trp					DNAJC4_ENST00000321460.5_Missense_Mutation_p.R65W|RP11-783K16.14_ENST00000539963.1_RNA|RP11-783K16.14_ENST00000534988.1_RNA|DNAJC4_ENST00000355040.4_Intron	p.R65W	NM_005528.3	NP_005519.2	Q9NNZ3	DNJC4_HUMAN			4	658	+			65			J.		O14716	Missense_Mutation	SNP	ENST00000321685.3	37	c.193C>T	CCDS41666.1	.	.	.	.	.	.	.	.	.	.	C	16.64	3.178307	0.57692	.	.	ENSG00000110011	ENST00000321685;ENST00000321460	T;T	0.33865	1.39;1.39	4.59	1.49	0.22878	Heat shock protein DnaJ, N-terminal (5);	0.148790	0.48767	D	0.000172	T	0.53142	0.1778	M	0.78456	2.415	0.42068	D	0.991199	D;D	0.89917	1.0;1.0	D;D	0.81914	0.991;0.995	T	0.49881	-0.8892	10	0.66056	D	0.02	-18.9823	5.3574	0.16069	0.3522:0.5497:0.0:0.0981	.	65;65	Q6PIN0;Q9NNZ3	.;DNJC4_HUMAN	W	65	ENSP00000396896:R65W;ENSP00000320548:R65W	ENSP00000320548:R65W	R	+	1	2	DNAJC4	63756490	1.000000	0.71417	0.720000	0.30636	0.670000	0.39368	0.863000	0.27913	0.087000	0.17167	0.462000	0.41574	CGG		0.642	DNAJC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396305.1			4	28	0	0	0	1	0	4	28					T	63999914	C	T	63999914	3	4	368	1	0	0	0	0	1	0	0	0	4649	643	23	2	203	2	DNAJC4	11	63999914	Missense_Mutation	SNP	C	TCGA-V1-A8MF-01A-11D-A364-08	58433578	63999914	71006602	29	18360											
FAT3	120114	broad.mit.edu	37	chr11	92087934	92087934	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcaatagctcaactggaatcGtttatgtagccgaccagttg	11	12	9	9	2	2	0	2	0	0	0	3	2	2	1	2	1	3	4	2	1	6	5	rs376814803		TCGA-V1-A8MF-01A-11D-A364-08	TCGA-V1-A8MF-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14569e23-59ef-4c2a-abdc-0c162bdfc721	3b55bcae-8653-48b8-b552-b0368b47bac2	g.chr11:92087934G>A	ENST00000298047.6	+	1	2673	c.2656G>A	c.(2656-2658)Gtt>Att	p.V886I	FAT3_ENST00000525166.1_Missense_Mutation_p.V736I|FAT3_ENST00000409404.2_Missense_Mutation_p.V886I|FAT3_ENST00000541502.1_Missense_Mutation_p.V886I			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	886	Cadherin 8. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				AACTGGAATCGTTTATGTAGC	0.448										TCGA Ovarian(4;0.039)																												ENST00000298047.6																			0				NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85						c.(2656-2658)Gtt>Att		FAT atypical cadherin 3		G	ILE/VAL	2,3848		0,2,1923	107	102	104		2656	1.6	0.1	11		104	0,8272		0,0,4136	no	missense	FAT3	NM_001008781.2	29	0,2,6059	AA,AG,GG		0.0,0.0519,0.0165	benign	886/4558	92087934	2,12120	1925	4136	6061	SO:0001583	missense	120114				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr11:92087934G>A	AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"Cadherins / Cadherin-related"	23112	protein-coding gene	gene with protein product	"cadherin-related family member 10"	612483	"FAT tumor suppressor homolog 3 (Drosophila)"			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.2656G>A	11.37:g.92087934G>A	ENSP00000298047:p.Val886Ile	TCGA Ovarian(4;0.039)				FAT3_ENST00000525166.1_Missense_Mutation_p.V736I|FAT3_ENST00000409404.2_Missense_Mutation_p.V886I|FAT3_ENST00000541502.1_Missense_Mutation_p.V886I	p.V886I			Q8TDW7	FAT3_HUMAN			1	2673	+		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)	886			Cadherin 8.		B5MDB0|Q96AU6	Missense_Mutation	SNP	ENST00000298047.6	37	c.2656G>A		.	.	.	.	.	.	.	.	.	.	G	9.899	1.206477	0.22205	5.19E-4	0.0	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000541502;ENST00000525166	T;T;T;T	0.57107	0.42;0.42;0.42;0.42	5.59	1.64	0.23874	.	.	.	.	.	T	0.30008	0.0751	N	0.13003	0.285	0.31466	N	0.668922	B	0.26577	0.153	B	0.21917	0.037	T	0.31724	-0.9933	9	0.15066	T	0.55	.	8.7649	0.34698	0.3598:0.0:0.6402:0.0	.	886	Q8TDW7-3	.	I	886;886;886;736	ENSP00000298047:V886I;ENSP00000387040:V886I;ENSP00000443786:V886I;ENSP00000432586:V736I	ENSP00000298047:V886I	V	+	1	0	FAT3	91727582	0.739000	0.28196	0.113000	0.21522	0.959000	0.62525	1.106000	0.31098	0.054000	0.16065	0.467000	0.42956	GTT		0.448	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781		18	54	0	0	0	1	0	18	54					A	92087934	G	A	92087934	3	1	368	1	0	0	0	0	1	0	0	0	5691	1145	40	1	2658	1	FAT3	11	92087934	Missense_Mutation	SNP	G	TCGA-V1-A8MF-01A-11D-A364-08	28088020	92087934	42918582	30	18361											
FAM55D	54827	broad.mit.edu	37	chr11	114450889	114450889	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaagtattccatccactggCggatcgtggaatctcccatt	9	12	9	11	2	1	1	0	1	1	0	5	3	3	3	3	3	0	1	3	3	3	3			TCGA-V1-A8MF-01A-11D-A364-08	TCGA-V1-A8MF-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14569e23-59ef-4c2a-abdc-0c162bdfc721	3b55bcae-8653-48b8-b552-b0368b47bac2	g.chr11:114450889C>A	ENST00000375478.3	-	5	1244	c.1064G>T	c.(1063-1065)cGc>cTc	p.R355L	NXPE4_ENST00000424261.2_Missense_Mutation_p.R71L	NM_001077639.1	NP_001071107.1	Q6UWF7	NXPE4_HUMAN	neurexophilin and PC-esterase domain family, member 4	355						extracellular vesicular exosome (GO:0070062)											CATCCACTGGCGGATCGTGGA	0.418																																						ENST00000375478.3																			0											c.(1063-1065)cGc>cTc		neurexophilin and PC-esterase domain family, member 4							195	186	189					11																	114450889		1857	4112	5969	SO:0001583	missense	54827							g.chr11:114450889C>A	AK000134	CCDS41718.1, CCDS44737.1	11q23.3	2012-06-14	2012-06-11	2012-06-11	ENSG00000137634	ENSG00000137634			23117	protein-coding gene	gene with protein product			"chromosome 11 open reading frame 33", "family with sequence similarity 55, member D"	C11orf33, FAM55D		20056006	Standard	NM_017678		Approved	FLJ20127	uc001ppc.3	Q6UWF7	OTTHUMG00000168291	ENST00000375478.3:c.1064G>T	11.37:g.114450889C>A	ENSP00000364627:p.Arg355Leu					NXPE4_ENST00000424261.2_Missense_Mutation_p.R71L	p.R355L	NM_001077639.1	NP_001071107.1					5	1244	-								Q6QDB4|Q9NXP5	Missense_Mutation	SNP	ENST00000375478.3	37	c.1064G>T	CCDS41718.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.055255	0.75960	.	.	ENSG00000137634	ENST00000424261;ENST00000375478	T;T	0.56275	0.47;1.68	5.11	4.19	0.49359	.	0.205226	0.34002	N	0.004343	T	0.63450	0.2512	M	0.85630	2.765	0.40543	D	0.981044	P	0.49447	0.924	P	0.49528	0.614	T	0.71069	-0.4699	10	0.66056	D	0.02	.	10.9604	0.47383	0.0:0.9083:0.0:0.0917	.	355	Q6UWF7	FA55D_HUMAN	L	71;355	ENSP00000401503:R71L;ENSP00000364627:R355L	ENSP00000364627:R355L	R	-	2	0	FAM55D	113956099	0.878000	0.30173	0.981000	0.43875	0.765000	0.43378	2.102000	0.41796	2.534000	0.85438	0.655000	0.94253	CGC		0.418	NXPE4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000399179.1	NM_017678		36	94	1	0	7.04047e-22	1	7.4805e-22	36	94					A	114450889	C	A	114450889	3	1	368	1	0	0	0	0	1	0	0	0	5587	768	27	5	578	5	FAM55D	11	114450889	Missense_Mutation	SNP	C	TCGA-V1-A8MF-01A-11D-A364-08	22362955	114450889	20555627	31	18362											
ABCG4	64137	broad.mit.edu	37	chr11	119031791	119031791	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gctggcctaccttgtgctgcGttaccgggtcaagtcagaga	7	10	13	11	2	2	1	2	0	0	1	2	2	2	1	3	2	4	3	3	2	3	3			TCGA-V1-A8MF-01A-11D-A364-08	TCGA-V1-A8MF-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14569e23-59ef-4c2a-abdc-0c162bdfc721	3b55bcae-8653-48b8-b552-b0368b47bac2	g.chr11:119031791G>A	ENST00000449422.2	+	15	2104	c.1916G>A	c.(1915-1917)cGt>cAt	p.R639H	ABCG4_ENST00000531739.1_Missense_Mutation_p.R639H|ABCG4_ENST00000307417.3_Missense_Mutation_p.R639H	NM_001142505.1	NP_001135977.1	Q9H172	ABCG4_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 4	639	ABC transmembrane type-2.				cholesterol efflux (GO:0033344)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|cholesterol transporter activity (GO:0017127)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(28)|ovary(2)|prostate(1)|skin(1)	44	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)		CTTGTGCTGCGTTACCGGGTC	0.597																																						ENST00000307417.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(28)|ovary(2)|prostate(1)|skin(1)	44						c.(1915-1917)cGt>cAt		ATP-binding cassette, sub-family G (WHITE), member 4							109	86	94					11																	119031791		2200	4295	6495	SO:0001583	missense	64137				cholesterol efflux	integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity|protein homodimerization activity	g.chr11:119031791G>A	AJ300465	CCDS8415.1	11q23	2012-03-14			ENSG00000172350	ENSG00000172350		"ATP binding cassette transporters / subfamily G"	13884	protein-coding gene	gene with protein product	"putative ABC transporter", "ATP-binding cassette, subfamily G, member 4"	607784				11435397	Standard	NM_022169		Approved	WHITE2	uc001pvs.3	Q9H172	OTTHUMG00000166169	ENST00000449422.2:c.1916G>A	11.37:g.119031791G>A	ENSP00000406874:p.Arg639His					ABCG4_ENST00000531739.1_Missense_Mutation_p.R639H|ABCG4_ENST00000449422.2_Missense_Mutation_p.R639H	p.R639H	NM_022169.4	NP_071452.2	Q9H172	ABCG4_HUMAN		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)	15	2280	+	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)	639			ABC transmembrane type-2.		A8K1B5|Q8WWH0|Q8WWH1|Q8WWH2	Missense_Mutation	SNP	ENST00000449422.2	37	c.1916G>A	CCDS8415.1	.	.	.	.	.	.	.	.	.	.	G	26.2	4.710594	0.89112	.	.	ENSG00000172350	ENST00000307417;ENST00000449422;ENST00000531739	T;T;T	0.56776	0.44;0.44;0.44	5.42	5.42	0.78866	.	0.000000	0.85682	D	0.000000	T	0.60728	0.2291	M	0.77820	2.39	0.80722	D	1	P	0.51933	0.949	P	0.47162	0.54	T	0.67526	-0.5648	10	0.72032	D	0.01	-8.2574	13.5055	0.61481	0.0748:0.0:0.9252:0.0	.	639	Q9H172	ABCG4_HUMAN	H	639	ENSP00000304111:R639H;ENSP00000406874:R639H;ENSP00000434318:R639H	ENSP00000304111:R639H	R	+	2	0	ABCG4	118537001	1.000000	0.71417	0.989000	0.46669	0.960000	0.62799	8.021000	0.88750	2.552000	0.86080	0.561000	0.74099	CGT		0.597	ABCG4-002	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388215.1	NM_022169		9	24	0	0	0	1	0	9	24					A	119031791	G	A	119031791	3	1	368	1	0	0	0	0	1	0	0	0	70	1145	40	1	1970	1	ABCG4	11	119031791	Missense_Mutation	SNP	G	TCGA-V1-A8MF-01A-11D-A364-08	4580902	119031791	15974725	32	18363											
LTBP2	4053	broad.mit.edu	37	chr14	74989505	74989505	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gtgaatacctgtgcagtaggCctggctggggtgcagctggt	6	10	17	8	0	0	1	0	1	0	0	0	1	0	1	2	5	4	5	2	5	3	2			TCGA-V1-A8MF-01A-11D-A364-08	TCGA-V1-A8MF-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14569e23-59ef-4c2a-abdc-0c162bdfc721	3b55bcae-8653-48b8-b552-b0368b47bac2	g.chr14:74989505C>T	ENST00000261978.4	-	16	3033	c.2647G>A	c.(2647-2649)Gcc>Acc	p.A883T	LTBP2_ENST00000556690.1_Missense_Mutation_p.A883T	NM_000428.2	NP_000419.1	Q14767	LTBP2_HUMAN	latent transforming growth factor beta binding protein 2	883	Cys-rich.|EGF-like 4. {ECO:0000255|PROSITE- ProRule:PRU00076}.				protein secretion (GO:0009306)|protein targeting (GO:0006605)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)		GTGCAGTAGGCCTGGCTGGGG	0.612																																						ENST00000261978.4																			0				breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						c.(2647-2649)Gcc>Acc		latent transforming growth factor beta binding protein 2							44	32	36					14																	74989505		2203	4300	6503	SO:0001583	missense	4053				protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|growth factor binding	g.chr14:74989505C>T		CCDS9831.1	14q24.3	2011-10-20	2001-12-04			ENSG00000119681		"Latent transforming growth factor, beta binding proteins"	6715	protein-coding gene	gene with protein product		602091	"chromosome 14 open reading frame 141"	LTBP3, C14orf141		7798248	Standard	NM_000428		Approved		uc001xqa.3	Q14767		ENST00000261978.4:c.2647G>A	14.37:g.74989505C>T	ENSP00000261978:p.Ala883Thr					LTBP2_ENST00000556690.1_Missense_Mutation_p.A883T	p.A883T	NM_000428.2	NP_000419.1	Q14767	LTBP2_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)	16	3033	-			883			Cys-rich.|EGF-like 4.		Q99907|Q9NS51	Missense_Mutation	SNP	ENST00000261978.4	37	c.2647G>A	CCDS9831.1	.	.	.	.	.	.	.	.	.	.	C	1.551	-0.539119	0.04053	.	.	ENSG00000119681	ENST00000261978;ENST00000556690	D;D	0.91295	-2.82;-2.82	4.75	0.74	0.18330	Epidermal growth factor-like (1);EGF-like region, conserved site (1);EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	0.568447	0.14658	N	0.306178	T	0.71367	0.3331	N	0.03084	-0.415	0.26632	N	0.972454	B	0.24092	0.097	B	0.21360	0.034	T	0.60939	-0.7163	10	0.12430	T	0.62	.	3.6932	0.08354	0.0:0.4515:0.1837:0.3648	.	883	Q14767	LTBP2_HUMAN	T	883	ENSP00000261978:A883T;ENSP00000451477:A883T	ENSP00000261978:A883T	A	-	1	0	LTBP2	74059258	0.358000	0.24947	0.998000	0.56505	0.475000	0.33008	-0.056000	0.11787	0.622000	0.30249	-0.140000	0.14226	GCC		0.612	LTBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413595.1	NM_000428		8	25	0	0	0	1	0	8	25					T	74989505	C	T	74989505	3	4	368	1	0	0	0	0	1	0	0	0	9074	739	26	3	2902	3	LTBP2	14	74989505	Missense_Mutation	SNP	C	TCGA-V1-A8MF-01A-11D-A364-08		74989505	32360035	33	18364											
SIGLEC10	89790	broad.mit.edu	37	chr19	51919938	51919938	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acaggccacacggagtcggaCggtcctctgtgcgctcacac	8	6	12	15	4	2	0	1	0	1	0	4	2	3	2	2	4	1	1	2	4	0	0	rs557047713		TCGA-V1-A8MF-01A-11D-A364-08	TCGA-V1-A8MF-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14569e23-59ef-4c2a-abdc-0c162bdfc721	3b55bcae-8653-48b8-b552-b0368b47bac2	g.chr19:51919938C>T	ENST00000339313.5	-	3	804	c.688G>A	c.(688-690)Gtc>Atc	p.V230I	SIGLEC10_ENST00000441969.3_Missense_Mutation_p.V172I|SIGLEC10_ENST00000356298.5_Missense_Mutation_p.V230I|SIGLEC10_ENST00000442846.3_Missense_Mutation_p.V172I|SIGLEC10_ENST00000432469.2_Missense_Mutation_p.V147I|SIGLEC10_ENST00000439889.2_Missense_Mutation_p.V172I|SIGLEC10_ENST00000353836.5_Missense_Mutation_p.V230I|SIGLEC10_ENST00000525998.1_Missense_Mutation_p.V230I|CTD-2616J11.3_ENST00000532473.1_RNA|CTD-2616J11.2_ENST00000526996.1_RNA|SIGLEC10_ENST00000436984.2_Missense_Mutation_p.V182I|CTD-2616J11.2_ENST00000532688.1_RNA			Q96LC7	SIG10_HUMAN	sialic acid binding Ig-like lectin 10	230	Ig-like C2-type 1.				cell adhesion (GO:0007155)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(27)|ovary(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000668)|OV - Ovarian serous cystadenocarcinoma(262;0.0101)		CGGAGTCGGACGGTCCTCTGT	0.652																																						ENST00000353836.5																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(27)|ovary(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						c.(688-690)Gtc>Atc		sialic acid binding Ig-like lectin 10							107	86	93					19																	51919938		2203	4298	6501	SO:0001583	missense	89790				cell adhesion	extracellular region|integral to membrane|plasma membrane	sugar binding	g.chr19:51919938C>T	AF310233	CCDS12832.1, CCDS54301.1, CCDS54302.1, CCDS54303.1, CCDS54304.1, CCDS54305.1	19q13.3	2013-01-29			ENSG00000142512	ENSG00000142512		"Sialic acid binding Ig-like lectins", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	15620	protein-coding gene	gene with protein product	"sialic acid binding Ig-like lectin 10 Ig-like lectin 7", "siglec-like gene 2"	606091				11284738	Standard	NM_033130		Approved	SIGLEC-10, SLG2, PRO940, MGC126774	uc002pwo.3	Q96LC7	OTTHUMG00000165521	ENST00000339313.5:c.688G>A	19.37:g.51919938C>T	ENSP00000345243:p.Val230Ile					SIGLEC10_ENST00000442846.3_Missense_Mutation_p.V172I|SIGLEC10_ENST00000436984.2_Missense_Mutation_p.V182I|SIGLEC10_ENST00000525998.1_Missense_Mutation_p.V230I|SIGLEC10_ENST00000339313.5_Missense_Mutation_p.V230I|SIGLEC10_ENST00000439889.2_Missense_Mutation_p.V172I|CTD-2616J11.2_ENST00000532688.1_RNA|SIGLEC10_ENST00000441969.3_Missense_Mutation_p.V172I|SIGLEC10_ENST00000356298.5_Missense_Mutation_p.V230I|SIGLEC10_ENST00000432469.2_Missense_Mutation_p.V147I	p.V230I	NM_001171157.1|NM_001171158.1|NM_001171159.1	NP_001164628.1|NP_001164629.1|NP_001164630.1	Q96LC7	SIG10_HUMAN		GBM - Glioblastoma multiforme(134;0.000668)|OV - Ovarian serous cystadenocarcinoma(262;0.0101)	3	909	-		all_neural(266;0.0199)	230			Ig-like C2-type 1.		A8K1I5|A8K3C7|C9JJ33|C9JM10|F8W917|Q3MIR5|Q6UXI8|Q96G54|Q96LC8	Missense_Mutation	SNP	ENST00000339313.5	37	c.688G>A	CCDS12832.1	.	.	.	.	.	.	.	.	.	.	.	9.550	1.115742	0.20795	.	.	ENSG00000142512	ENST00000353836;ENST00000432469;ENST00000442846;ENST00000356298;ENST00000441969;ENST00000525998;ENST00000439889;ENST00000436984;ENST00000339313;ENST00000529627	T;T;D;T;D;T;D;D;T;D	0.87256	3.81;2.11;-2.23;3.81;-2.23;3.81;-2.23;-2.23;3.81;-2.23	4.69	-2.32	0.06745	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.745961	0.11943	N	0.514481	T	0.79799	0.4508	N	0.17248	0.465	0.09310	N	1	P;D;P;P;D;P;B	0.64830	0.893;0.975;0.698;0.921;0.994;0.664;0.343	B;P;B;P;P;B;B	0.54100	0.268;0.48;0.163;0.456;0.742;0.341;0.044	T	0.70182	-0.4942	10	0.40728	T	0.16	.	5.113	0.14819	0.0:0.4274:0.1535:0.4191	.	182;230;172;230;172;172;230	C9JM10;E9PL79;C9JJ33;Q96LC7-2;Q96LC7-6;Q96LC7-3;Q96LC7	.;.;.;.;.;.;SIG10_HUMAN	I	230;147;172;230;172;230;172;182;230;44	ENSP00000342389:V230I;ENSP00000396742:V147I;ENSP00000395475:V172I;ENSP00000348646:V230I;ENSP00000408387:V172I;ENSP00000431444:V230I;ENSP00000389132:V172I;ENSP00000414324:V182I;ENSP00000345243:V230I;ENSP00000435281:V44I	ENSP00000345243:V230I	V	-	1	0	SIGLEC10	56611750	0.000000	0.05858	0.000000	0.03702	0.132000	0.20833	-0.634000	0.05477	-0.181000	0.10619	0.313000	0.20887	GTC		0.652	SIGLEC10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000384620.2	NM_033130		3	13	0	0	0	1	0	3	13					T	51919938	C	T	51919938	3	4	368	1	0	0	0	0	1	0	0	0	14306	536	19	1	1441	1	SIGLEC10	19	51919938	Missense_Mutation	SNP	C	TCGA-V1-A8MF-01A-11D-A364-08		51919938	7209045	34	18365											
HDAC10	83933	broad.mit.edu	37	chr22	50684778	50684779	+	Frame_Shift_Ins	INS	-	-	C																															atagggcagccgcctccttgINScccctgatgttcagccacag																										TCGA-V1-A8MF-01A-11D-A364-08	TCGA-V1-A8MF-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14569e23-59ef-4c2a-abdc-0c162bdfc721	3b55bcae-8653-48b8-b552-b0368b47bac2	g.chr22:50684778_50684779insC	ENST00000216271.5	-	17	1950_1951	c.1598_1599insG	c.(1597-1599)ggcfs	p.G533fs	TUBGCP6_ENST00000439308.2_5'Flank|HDAC10_ENST00000448072.1_Frame_Shift_Ins_p.G483fs|MAPK12_ENST00000497036.1_5'UTR|TUBGCP6_ENST00000248846.5_5'Flank|HDAC10_ENST00000498366.1_5'UTR|HDAC10_ENST00000349505.4_Frame_Shift_Ins_p.G513fs	NM_001159286.1|NM_032019.5	NP_001152758.1|NP_114408.3	Q969S8	HDA10_HUMAN	histone deacetylase 10	533					chromatin modification (GO:0016568)|histone deacetylation (GO:0016575)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|oligodendrocyte development (GO:0014003)|protein deacetylation (GO:0006476)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|histone deacetylase complex (GO:0000118)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|protein deacetylase activity (GO:0033558)			endometrium(2)|kidney(2)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	8		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		CCGCCTCCTTGCCCCTGATGTT	0.614																																						ENST00000216271.5																			0				endometrium(2)|kidney(2)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	8						c.(1597-1599)gaafs		histone deacetylase 10																																				SO:0001589	frameshift_variant	83933				negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|nucleus	histone deacetylase activity|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)	g.chr22:50684778_50684779insC	AF393962	CCDS14088.1, CCDS54545.1	22q13.31	2008-06-10			ENSG00000100429	ENSG00000100429			18128	protein-coding gene	gene with protein product		608544				11677242, 11726666	Standard	NM_032019		Approved	DKFZP761B039	uc003bkg.3	Q969S8	OTTHUMG00000044647	ENST00000216271.5:c.1599dupG	22.37:g.50684782_50684782dupC	ENSP00000216271:p.Gly533fs					HDAC10_ENST00000349505.4_Frame_Shift_Ins_p.E513fs|HDAC10_ENST00000448072.1_Frame_Shift_Ins_p.E483fs|HDAC10_ENST00000498366.1_5'UTR|MAPK12_ENST00000497036.1_5'UTR	p.E533fs	NM_001159286.1|NM_032019.5	NP_001152758.1|NP_114408.3	Q969S8	HDA10_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)	17	1950_1951	-		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)	533					Q08AP4|Q6STF9|Q96P77|Q96P78|Q9H028|Q9UGX1|Q9UGX2	Frame_Shift_Ins	INS	ENST00000216271.5	37	c.1598_1599insG	CCDS14088.1																																																																																				0.614	HDAC10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000104141.4	NM_032019		19	69						19	69	---	---	---	---	C	50684779	-	C	50684778	7	5	368	1	0	1	1	0	0	0	0	0	7005	1306	46	0	426	0	HDAC10	22	50684778	Frame_Shift_Ins	INS	-	TCGA-V1-A8MF-01A-11D-A364-08		50684778	619788	35	18366											
HMGB3	3149	broad.mit.edu	37	chrX	150156360	150156360	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaagaggaggaggaagaagaGgaggaggaggaggaggagga	17	0	24	0	0	0	3	0	0	0	3	0	14	0	13	0	10	0	0	0	10	3	0			TCGA-V1-A8MF-01A-11D-A364-08	TCGA-V1-A8MF-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14569e23-59ef-4c2a-abdc-0c162bdfc721	3b55bcae-8653-48b8-b552-b0368b47bac2	g.chrX:150156360G>A	ENST00000325307.7	+	5	672	c.576G>A	c.(574-576)gaG>gaA	p.E192E	HMGB3_ENST00000448905.2_Silent_p.E192E	NM_005342.2	NP_005333.2	O15347	HMGB3_HUMAN	high mobility group box 3	192	Asp/Glu-rich (acidic).				DNA recombination (GO:0006310)|multicellular organismal development (GO:0007275)	chromosome (GO:0005694)|nucleus (GO:0005634)	DNA binding, bending (GO:0008301)|double-stranded DNA binding (GO:0003690)|poly(A) RNA binding (GO:0044822)	p.E192E(1)		endometrium(3)|large_intestine(2)|lung(2)|skin(1)	8	Acute lymphoblastic leukemia(192;6.56e-05)					aggaagaagaggaggaggagg	0.443																																						ENST00000325307.7																			1	Substitution - coding silent(1)	p.E192E(1)	large_intestine(1)	endometrium(3)|large_intestine(2)|lung(2)|skin(1)	8						c.(574-576)gaG>gaA		high mobility group box 3							50	48	49					X																	150156360		2202	4299	6501	SO:0001819	synonymous_variant	3149				DNA recombination|multicellular organismal development	chromosome|nucleus	DNA bending activity|double-stranded DNA binding	g.chrX:150156360G>A	AF274572	CCDS35428.1	Xq28	2011-07-01	2011-04-05	2002-08-16	ENSG00000029993	ENSG00000029993		"High-mobility group / Canonical"	5004	protein-coding gene	gene with protein product	"non-histone chromosomal protein"	300193	"high-mobility group (nonhistone chromosomal) protein 4", "high-mobility group box 3"	HMG4		9598312	Standard	XM_005274665		Approved	HMG2A, MGC90319	uc004fep.3	O15347	OTTHUMG00000024162	ENST00000325307.7:c.576G>A	X.37:g.150156360G>A						HMGB3_ENST00000448905.2_Silent_p.E192E	p.E192E	NM_005342.2	NP_005333.2	O15347	HMGB3_HUMAN			5	672	+	Acute lymphoblastic leukemia(192;6.56e-05)		192			Asp/Glu-rich (acidic).		O95556|Q6NS40	Silent	SNP	ENST00000325307.7	37	c.576G>A	CCDS35428.1																																																																																				0.443	HMGB3-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060867.1	NM_005342		3	50	0	0	0	1	0	3	50					A	150156360	G	A	150156360	2	1	368	1	0	0	0	0	0	0	0	1	7227	991	35	3		3	HMGB3	23	150156360	Silent	SNP	G	TCGA-V1-A8MF-01A-11D-A364-08		150156360	5114200	36	18367											
KDM1A	23028	broad.mit.edu	37	chr1	23376958	23376958	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agcagcctgttttccagataTtatcagtggaccacaacaga	13	10	8	10	0	1	2	1	0	0	2	2	3	2	3	3	1	3	2	3	1	3	4			TCGA-V1-A8MG-01A-11D-A364-08	TCGA-V1-A8MG-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c1166ce-10f5-4e3d-93b6-bfdf96fddc4e	335eea2f-41a0-419e-9da3-316bb8514aa2	g.chr1:23376958T>C	ENST00000356634.3	+	3	745	c.596T>C	c.(595-597)aTt>aCt	p.I199T	RP1-184J9.2_ENST00000427154.1_RNA|KDM1A_ENST00000400181.4_Missense_Mutation_p.I219T|KDM1A_ENST00000542151.1_Missense_Mutation_p.I219T	NM_015013.3	NP_055828.2	O60341	KDM1A_HUMAN	lysine (K)-specific demethylase 1A	199	SWIRM. {ECO:0000255|PROSITE- ProRule:PRU00247}.				blood coagulation (GO:0007596)|cell proliferation (GO:0008283)|granulocyte differentiation (GO:0030851)|histone H3-K4 demethylation (GO:0034720)|histone H3-K9 demethylation (GO:0033169)|in utero embryonic development (GO:0001701)|muscle cell development (GO:0055001)|negative regulation of DNA binding (GO:0043392)|negative regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043518)|negative regulation of histone H3-K4 methylation (GO:0051572)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:1902166)|negative regulation of protein binding (GO:0032091)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|pituitary gland development (GO:0021983)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of hormone biosynthetic process (GO:0046886)|positive regulation of megakaryocyte differentiation (GO:0045654)|positive regulation of neural precursor cell proliferation (GO:2000179)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of stem cell proliferation (GO:2000648)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein demethylation (GO:0006482)|regulation of primitive erythrocyte differentiation (GO:0010725)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|demethylase activity (GO:0032451)|enzyme binding (GO:0019899)|flavin adenine dinucleotide binding (GO:0050660)|histone demethylase activity (GO:0032452)|histone demethylase activity (H3-dimethyl-K4 specific) (GO:0034648)|histone demethylase activity (H3-K4 specific) (GO:0032453)|histone demethylase activity (H3-K9 specific) (GO:0032454)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|MRF binding (GO:0043426)|oxidoreductase activity (GO:0016491)|p53 binding (GO:0002039)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|central_nervous_system(2)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23						TTTCCAGATATTATCAGTGGA	0.433																																						ENST00000400181.4																			0				breast(2)|central_nervous_system(2)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23						c.(655-657)aTt>aCt		lysine (K)-specific demethylase 1A							142	135	138					1																	23376958		2203	4300	6503	SO:0001583	missense	23028				blood coagulation|muscle cell development|negative regulation of apoptosis|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of protein binding|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nuclear chromatin	androgen receptor binding|chromatin binding|enzyme binding|flavin adenine dinucleotide binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-K9 specific)|ligand-dependent nuclear receptor transcription coactivator activity|MyoD binding|oxidoreductase activity|p53 binding|transcription regulatory region DNA binding	g.chr1:23376958T>C	AL031428	CCDS30627.1, CCDS53278.1	1p36.12	2011-07-01	2009-09-29	2009-09-29	ENSG00000004487	ENSG00000004487		"Chromatin-modifying enzymes / K-demethylases"	29079	protein-coding gene	gene with protein product		609132	"amine oxidase (flavin containing) domain 2", "lysine (K)-specific demethylase 1"	AOF2, KDM1		9628581, 12493763	Standard	NM_015013		Approved	KIAA0601, BHC110, LSD1	uc001bgj.2	O60341	OTTHUMG00000003220	ENST00000356634.3:c.596T>C	1.37:g.23376958T>C	ENSP00000349049:p.Ile199Thr					RP1-184J9.2_ENST00000427154.1_RNA|KDM1A_ENST00000356634.3_Missense_Mutation_p.I199T|KDM1A_ENST00000542151.1_Missense_Mutation_p.I219T	p.I219T	NM_001009999.2	NP_001009999.1	O60341	KDM1A_HUMAN			4	760	+			199			SWIRM.		A8MWP9|Q5TH94|Q5TH95|Q86VT7|Q8IXK4|Q8NDP6|Q8TAZ3|Q96AW4	Missense_Mutation	SNP	ENST00000356634.3	37	c.656T>C	CCDS30627.1	.	.	.	.	.	.	.	.	.	.	T	26.8	4.771344	0.90108	.	.	ENSG00000004487	ENST00000356634;ENST00000400181;ENST00000542151	T;T;T	0.35236	1.41;1.32;1.33	5.82	5.82	0.92795	Winged helix-turn-helix transcription repressor DNA-binding (1);Homeodomain-like (1);SWIRM (2);	0.046009	0.85682	D	0.000000	T	0.57814	0.2079	M	0.73217	2.22	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.995;0.999	T	0.53982	-0.8361	10	0.20519	T	0.43	-12.113	15.3729	0.74581	0.0:0.0:0.0:1.0	.	219;199	O60341-2;O60341	.;KDM1A_HUMAN	T	199;219;219	ENSP00000349049:I199T;ENSP00000383042:I219T;ENSP00000439072:I219T	ENSP00000349049:I199T	I	+	2	0	KDM1A	23249545	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.999000	0.88496	2.216000	0.71823	0.533000	0.62120	ATT		0.433	KDM1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000008880.3	NM_015013		5	44	0	0	0	1	0	5	44					C	23376958	T	C	23376958	3	2	369	1	0	0	0	0	1	0	0	0	8122	1493	52	4	670	4	KDM1A	1	23376958	Missense_Mutation	SNP	T	TCGA-V1-A8MG-01A-11D-A364-08		23376958	225873663	1	18368											
HIVEP3	59269	broad.mit.edu	37	chr1	41976593	41976593	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acaggcgacacggaggctgaCgagctctcagtgggactcca	10	5	14	12	3	1	1	1	1	1	0	3	5	2	3	1	4	1	2	1	4	0	0	rs139361589		TCGA-V1-A8MG-01A-11D-A364-08	TCGA-V1-A8MG-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c1166ce-10f5-4e3d-93b6-bfdf96fddc4e	335eea2f-41a0-419e-9da3-316bb8514aa2	g.chr1:41976593C>T	ENST00000372583.1	-	9	7635	c.6750G>A	c.(6748-6750)tcG>tcA	p.S2250S	HIVEP3_ENST00000372584.1_Silent_p.S2249S|HIVEP3_ENST00000247584.5_Silent_p.S2250S|HIVEP3_ENST00000429157.2_Silent_p.S2249S|HIVEP3_ENST00000460604.1_5'UTR	NM_024503.4	NP_078779.2	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	2250					positive regulation of transcription, DNA-templated (GO:0045893)|skeletal muscle cell differentiation (GO:0035914)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				CGGAGGCTGACGAGCTCTCAG	0.682													C|||	1	0.000199681	0	0	5008	,	,		13802	0		0	False		,,,				2504	0.001					ENST00000372584.1																			0				NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85						c.(6745-6747)tcG>tcA		human immunodeficiency virus type I enhancer binding protein 3		C	,	1,4405	2.1+/-5.4	0,1,2202	38	42	40		6747,6750	-10.3	0	1	dbSNP_134	40	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	HIVEP3	NM_001127714.2,NM_024503.4	,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,	2249/2406,2250/2407	41976593	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	59269				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding	g.chr1:41976593C>T	AF278765	CCDS463.1, CCDS44124.1	1p34	2013-01-08	2001-11-28		ENSG00000127124	ENSG00000127124		"Zinc fingers, C2H2-type"	13561	protein-coding gene	gene with protein product	"kappabinding protein-1"	606649	"human immunodeficiency virus type I enhancer-binding protein 3"			11161801	Standard	NR_038260		Approved	KRC, KBP1, KBP-1, SHN3, FLJ16752, KIAA1555, ZAS3, Schnurri-3, ZNF40C	uc001cha.4	Q5T1R4	OTTHUMG00000006361	ENST00000372583.1:c.6750G>A	1.37:g.41976593C>T						HIVEP3_ENST00000429157.2_Silent_p.S2249S|HIVEP3_ENST00000372583.1_Silent_p.S2250S|HIVEP3_ENST00000247584.5_Silent_p.S2250S|HIVEP3_ENST00000460604.1_5'UTR	p.S2249S	NM_001127714.2	NP_001121186.1	Q5T1R4	ZEP3_HUMAN			8	7761	-	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)	2250					A7YY91|Q5T1R5|Q9BZS0|Q9HCL7	Silent	SNP	ENST00000372583.1	37	c.6747G>A	CCDS463.1																																																																																				0.682	HIVEP3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000016978.1	NM_024503		4	28	0	0	0	1	0	4	28					T	41976593	C	T	41976593	2	4	369	1	0	0	0	0	0	0	0	1	7188	523	19	1		1	HIVEP3	1	41976593	Silent	SNP	C	TCGA-V1-A8MG-01A-11D-A364-08	18599635	41976593	207274028	2	18369											
CDC7	8317	broad.mit.edu	37	chr1	91977213	91977213	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gaagaatgatcatgtagttaTtgctatgccatatctggagc	12	13	10	6	0	2	2	1	1	1	1	2	4	2	3	1	1	3	3	1	1	6	5			TCGA-V1-A8MG-01A-11D-A364-08	TCGA-V1-A8MG-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c1166ce-10f5-4e3d-93b6-bfdf96fddc4e	335eea2f-41a0-419e-9da3-316bb8514aa2	g.chr1:91977213T>C	ENST00000428239.1	+	5	654	c.395T>C	c.(394-396)aTt>aCt	p.I132T	CDC7_ENST00000234626.6_Missense_Mutation_p.I132T|CDC7_ENST00000430031.2_Missense_Mutation_p.I104T	NM_001134420.1	NP_001127892.1	O00311	CDC7_HUMAN	cell division cycle 7	132	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell cycle phase transition (GO:0044770)|cell division (GO:0051301)|DNA replication (GO:0006260)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|positive regulation of cell proliferation (GO:0008284)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)	cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|microtubule cytoskeleton (GO:0015630)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|stomach(2)	23		all_lung(203;0.0165)|Lung NSC(277;0.0562)		all cancers(265;0.00108)|Epithelial(280;0.0184)|KIRC - Kidney renal clear cell carcinoma(1967;0.124)		CATGTAGTTATTGCTATGCCA	0.323																																						ENST00000428239.1																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|stomach(2)	23						c.(394-396)aTt>aCt		cell division cycle 7							208	209	208					1																	91977213		2203	4300	6503	SO:0001583	missense	8317				cell cycle checkpoint|cell division|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|positive regulation of cell proliferation|regulation of S phase	cytoplasm|nucleoplasm	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr1:91977213T>C	AF015592	CCDS734.1	1p22	2013-01-17	2013-01-17	2003-07-23	ENSG00000097046	ENSG00000097046			1745	protein-coding gene	gene with protein product		603311	"CDC7 (cell division cycle 7, S. cerevisiae, homolog)-like 1", "CDC7 cell division cycle 7 (S. cerevisiae)", "cell division cycle 7 (S. cerevisiae)", "cell division cycle 7 homolog (S. cerevisiae)"	CDC7L1		9405610, 9250678	Standard	NM_003503		Approved	Hsk1, huCdc7, HsCdc7	uc001dof.3	O00311	OTTHUMG00000047810	ENST00000428239.1:c.395T>C	1.37:g.91977213T>C	ENSP00000393139:p.Ile132Thr					CDC7_ENST00000430031.2_Missense_Mutation_p.I104T|CDC7_ENST00000234626.6_Missense_Mutation_p.I132T	p.I132T	NM_001134420.1	NP_001127892.1	O00311	CDC7_HUMAN		all cancers(265;0.00108)|Epithelial(280;0.0184)|KIRC - Kidney renal clear cell carcinoma(1967;0.124)	5	654	+		all_lung(203;0.0165)|Lung NSC(277;0.0562)	132			Protein kinase.		D3DT31|O00558|Q5T5U5	Missense_Mutation	SNP	ENST00000428239.1	37	c.395T>C	CCDS734.1	.	.	.	.	.	.	.	.	.	.	T	22.0	4.232316	0.79688	.	.	ENSG00000097046	ENST00000430031;ENST00000234626;ENST00000428239;ENST00000426137	T;T;T;T	0.68903	-0.36;-0.36;-0.36;-0.36	5.78	5.78	0.91487	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.78910	0.4358	M	0.79123	2.44	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.998	T	0.81920	-0.0712	10	0.66056	D	0.02	-13.2553	16.1082	0.81241	0.0:0.0:0.0:1.0	.	104;132	B7Z5H7;O00311	.;CDC7_HUMAN	T	104;132;132;132	ENSP00000407477:I104T;ENSP00000234626:I132T;ENSP00000393139:I132T;ENSP00000398077:I132T	ENSP00000234626:I132T	I	+	2	0	CDC7	91749801	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.303000	0.78871	2.205000	0.71048	0.482000	0.46254	ATT		0.323	CDC7-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027928.1	NM_003503		5	82	0	0	0	1	0	5	82					C	91977213	T	C	91977213	3	2	369	1	0	0	0	0	1	0	0	0	3084	1493	52	4	409	4	CDC7	1	91977213	Missense_Mutation	SNP	T	TCGA-V1-A8MG-01A-11D-A364-08	50000620	91977213	157273408	3	18370											
CELSR2	1952	broad.mit.edu	37	chr1	109793213	109793213	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agagtccctgggtgggcgtcGgaaaaggaatgtaaatacag	13	7	15	6	2	0	1	0	0	0	1	2	3	1	3	1	4	1	1	1	4	6	2			TCGA-V1-A8MG-01A-11D-A364-08	TCGA-V1-A8MG-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c1166ce-10f5-4e3d-93b6-bfdf96fddc4e	335eea2f-41a0-419e-9da3-316bb8514aa2	g.chr1:109793213G>A	ENST00000271332.3	+	1	573	c.512G>A	c.(511-513)cGg>cAg	p.R171Q		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	171					cerebrospinal fluid secretion (GO:0033326)|cilium assembly (GO:0042384)|cilium movement (GO:0003341)|dendrite morphogenesis (GO:0048813)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neural plate anterior/posterior regionalization (GO:0021999)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of cell-cell adhesion (GO:0022407)|regulation of protein localization (GO:0032880)|regulation of transcription, DNA-templated (GO:0006355)|ventricular system development (GO:0021591)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		GGTGGGCGTCGGAAAAGGAAT	0.632																																					NSCLC(158;1285 2011 34800 34852 42084)	ENST00000271332.3																			0				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82						c.(511-513)cGg>cAg		cadherin, EGF LAG seven-pass G-type receptor 2							52	67	62					1																	109793213		2203	4300	6503	SO:0001583	missense	1952				dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding	g.chr1:109793213G>A	D87469	CCDS796.1	1p13.3	2014-08-08	2013-02-18		ENSG00000143126	ENSG00000143126		"Cadherins / Major cadherins", "-", "GPCR / Class B : Orphans"	3231	protein-coding gene	gene with protein product		604265	"cadherin, EGF LAG seven-pass G-type receptor 2, flamingo (Drosophila) homolog"	EGFL2		9693030, 10907856	Standard	NM_001408		Approved	KIAA0279, MEGF3, Flamingo1, CDHF10	uc001dxa.4	Q9HCU4	OTTHUMG00000012003	ENST00000271332.3:c.512G>A	1.37:g.109793213G>A	ENSP00000271332:p.Arg171Gln						p.R171Q	NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)	1	573	+		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)	171					Q5T2Y7|Q92566	Missense_Mutation	SNP	ENST00000271332.3	37	c.512G>A	CCDS796.1	.	.	.	.	.	.	.	.	.	.	N	13.80	2.346244	0.41599	.	.	ENSG00000143126	ENST00000271332	T	0.68331	-0.32	4.72	4.72	0.59763	.	.	.	.	.	T	0.35799	0.0944	L	0.34521	1.04	0.41235	D	0.986609	B	0.26602	0.154	B	0.09377	0.004	T	0.33033	-0.9884	9	0.35671	T	0.21	.	8.8088	0.34954	0.0996:0.0:0.9004:0.0	.	171	Q9HCU4	CELR2_HUMAN	Q	171	ENSP00000271332:R171Q	ENSP00000271332:R171Q	R	+	2	0	CELSR2	109594736	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	2.984000	0.49353	2.476000	0.83614	0.555000	0.69702	CGG		0.632	CELSR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033200.1	NM_001408		4	23	0	0	0	1	0	4	23					A	109793213	G	A	109793213	3	1	369	1	0	0	0	0	1	0	0	0	3222	1116	39	2	514	2	CELSR2	1	109793213	Missense_Mutation	SNP	G	TCGA-V1-A8MG-01A-11D-A364-08	17816000	109793213	139457408	4	18371											
CELSR2	1952	broad.mit.edu	37	chr1	109801533	109801533	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcctcctccgtgctcttcCggcccatccaccccgtcgga	3	9	7	22	4	1	0	0	0	1	0	7	1	6	1	9	2	1	1	9	2	0	1			TCGA-V1-A8MG-01A-11D-A364-08	TCGA-V1-A8MG-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c1166ce-10f5-4e3d-93b6-bfdf96fddc4e	335eea2f-41a0-419e-9da3-316bb8514aa2	g.chr1:109801533C>T	ENST00000271332.3	+	2	3851	c.3790C>T	c.(3790-3792)Cgg>Tgg	p.R1264W		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	1264	EGF-like 1; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				cerebrospinal fluid secretion (GO:0033326)|cilium assembly (GO:0042384)|cilium movement (GO:0003341)|dendrite morphogenesis (GO:0048813)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neural plate anterior/posterior regionalization (GO:0021999)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of cell-cell adhesion (GO:0022407)|regulation of protein localization (GO:0032880)|regulation of transcription, DNA-templated (GO:0006355)|ventricular system development (GO:0021591)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		CGTGCTCTTCCGGCCCATCCA	0.697																																					NSCLC(158;1285 2011 34800 34852 42084)	ENST00000271332.3																			0				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82						c.(3790-3792)Cgg>Tgg		cadherin, EGF LAG seven-pass G-type receptor 2							32	30	31					1																	109801533		2201	4299	6500	SO:0001583	missense	1952				dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding	g.chr1:109801533C>T	D87469	CCDS796.1	1p13.3	2014-08-08	2013-02-18		ENSG00000143126	ENSG00000143126		"Cadherins / Major cadherins", "-", "GPCR / Class B : Orphans"	3231	protein-coding gene	gene with protein product		604265	"cadherin, EGF LAG seven-pass G-type receptor 2, flamingo (Drosophila) homolog"	EGFL2		9693030, 10907856	Standard	NM_001408		Approved	KIAA0279, MEGF3, Flamingo1, CDHF10	uc001dxa.4	Q9HCU4	OTTHUMG00000012003	ENST00000271332.3:c.3790C>T	1.37:g.109801533C>T	ENSP00000271332:p.Arg1264Trp						p.R1264W	NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)	2	3851	+		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)	1264			EGF-like 1; calcium-binding.		Q5T2Y7|Q92566	Missense_Mutation	SNP	ENST00000271332.3	37	c.3790C>T	CCDS796.1	.	.	.	.	.	.	.	.	.	.	C	15.17	2.753540	0.49362	.	.	ENSG00000143126	ENST00000271332	T	0.54866	0.55	4.68	2.82	0.32997	Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	.	.	.	.	T	0.63943	0.2554	M	0.84511	2.7	0.49687	D	0.999818	D	0.89917	1.0	D	0.70935	0.971	T	0.69569	-0.5110	9	0.72032	D	0.01	.	10.6776	0.45796	0.0:0.8421:0.0:0.1579	.	1264	Q9HCU4	CELR2_HUMAN	W	1264	ENSP00000271332:R1264W	ENSP00000271332:R1264W	R	+	1	2	CELSR2	109603056	1.000000	0.71417	1.000000	0.80357	0.243000	0.25628	2.285000	0.43487	0.709000	0.31976	-0.251000	0.11542	CGG		0.697	CELSR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033200.1	NM_001408		3	17	0	0	0	1	0	3	17					T	109801533	C	T	109801533	3	4	369	1	0	0	0	0	1	0	0	0	3222	643	23	2	3796	2	CELSR2	1	109801533	Missense_Mutation	SNP	C	TCGA-V1-A8MG-01A-11D-A364-08	8320	109801533	139449088	5	18372											
APOB	338	broad.mit.edu	37	chr2	21249774	21249774	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttgttgacactgtctgggaaAaatccttgcttcccaaaaag	12	12	8	9	0	1	1	0	1	1	0	3	2	3	2	2	1	1	2	2	1	4	4			TCGA-V1-A8MG-01A-11D-A364-08	TCGA-V1-A8MG-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c1166ce-10f5-4e3d-93b6-bfdf96fddc4e	335eea2f-41a0-419e-9da3-316bb8514aa2	g.chr2:21249774A>G	ENST00000233242.1	-	15	2257	c.2130T>C	c.(2128-2130)ttT>ttC	p.F710F	APOB_ENST00000399256.4_Silent_p.F710F	NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	710					artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGTCTGGGAAAAATCCTTGCT	0.423																																						ENST00000233242.1																			0				NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305						c.(2128-2130)ttT>ttC		apolipoprotein B	Atorvastatin(DB01076)						110	108	109					2																	21249774		2203	4300	6503	SO:0001819	synonymous_variant	338				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	g.chr2:21249774A>G	M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"Apolipoproteins"	603	protein-coding gene	gene with protein product		107730	"apolipoprotein B (including Ag(x) antigen)"				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.2130T>C	2.37:g.21249774A>G						APOB_ENST00000399256.4_Silent_p.F710F	p.F710F	NM_000384.2	NP_000375.2	P04114	APOB_HUMAN			15	2257	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		710					O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Silent	SNP	ENST00000233242.1	37	c.2130T>C	CCDS1703.1																																																																																				0.423	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1			9	42	0	0	0	1	0	9	42					G	21249774	A	G	21249774	2	3	369	1	0	0	0	0	0	0	0	1	785	11	1	4		4	APOB	2	21249774	Silent	SNP	A	TCGA-V1-A8MG-01A-11D-A364-08		21249774	221949599	6	18373											
IMP4	92856	broad.mit.edu	37	chr2	131103658	131103658	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaccgggtcatcaccttcgCaaaccaggacgactacatat	12	7	7	15	3	2	0	2	0	0	0	3	2	2	1	4	2	2	1	4	2	3	3			TCGA-V1-A8MG-01A-11D-A364-08	TCGA-V1-A8MG-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c1166ce-10f5-4e3d-93b6-bfdf96fddc4e	335eea2f-41a0-419e-9da3-316bb8514aa2	g.chr2:131103658C>T	ENST00000259239.3	+	7	1370	c.662C>T	c.(661-663)gCa>gTa	p.A221V	IMP4_ENST00000409935.1_Missense_Mutation_p.A221V	NM_033416.1	NP_219484.1	Q96G21	IMP4_HUMAN	IMP4, U3 small nucleolar ribonucleoprotein	221	Brix. {ECO:0000255|PROSITE- ProRule:PRU00034}.				rRNA processing (GO:0006364)	nucleolus (GO:0005730)|ribonucleoprotein complex (GO:0030529)				central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|skin(1)|urinary_tract(1)	18	Colorectal(110;0.1)					ATCACCTTCGCAAACCAGGAC	0.572																																						ENST00000259239.3																			0				central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|skin(1)|urinary_tract(1)	18						c.(661-663)gCa>gTa		IMP4, U3 small nucleolar ribonucleoprotein, homolog (yeast)							121	118	119					2																	131103658		2203	4300	6503	SO:0001583	missense	92856				rRNA processing|translation	nucleolus|ribonucleoprotein complex	aminoacyl-tRNA ligase activity|ATP binding|protein binding	g.chr2:131103658C>T	BC010042	CCDS2160.1	2q21.1	2014-02-19	2014-02-19		ENSG00000136718	ENSG00000136718			30856	protein-coding gene	gene with protein product		612981	"IMP4, U3 small nucleolar ribonucleoprotein, homolog (yeast)"			8619474, 9110174, 12655004	Standard	NM_033416		Approved	MGC19606, BXDC4	uc002tra.1	Q96G21	OTTHUMG00000131627	ENST00000259239.3:c.662C>T	2.37:g.131103658C>T	ENSP00000259239:p.Ala221Val					IMP4_ENST00000409935.1_Missense_Mutation_p.A221V	p.A221V	NM_033416.1	NP_219484.1	Q96G21	IMP4_HUMAN			7	1370	+	Colorectal(110;0.1)		221			Brix.		Q3ZTT3	Missense_Mutation	SNP	ENST00000259239.3	37	c.662C>T	CCDS2160.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.47|18.47	3.631789|3.631789	0.67015|0.67015	.|.	.|.	ENSG00000136718|ENSG00000136718	ENST00000259239;ENST00000409935;ENST00000409649;ENST00000428740|ENST00000452955	T;T;T;T|.	0.21932|.	1.98;1.98;1.98;1.98|.	5.74|5.74	5.74|5.74	0.90152|0.90152	Brix domain (3);Anticodon-binding (1);|.	0.047075|.	0.85682|.	D|.	0.000000|.	T|.	0.70780|.	0.3263|.	L|L	0.52823|0.52823	1.66|1.66	0.80722|0.80722	D|D	1|1	B|.	0.16603|.	0.018|.	B|.	0.21360|.	0.034|.	T|.	0.66048|.	-0.6020|.	10|.	0.27082|.	T|.	0.32|.	-22.5451|-22.5451	17.8009|17.8009	0.88586|0.88586	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	221|.	Q96G21|.	IMP4_HUMAN|.	V|X	221;221;136;166|210	ENSP00000259239:A221V;ENSP00000386411:A221V;ENSP00000386716:A136V;ENSP00000389701:A166V|.	ENSP00000259239:A221V|.	A|Q	+|+	2|1	0|0	IMP4|IMP4	130820128|130820128	1.000000|1.000000	0.71417|0.71417	0.476000|0.476000	0.27291|0.27291	0.933000|0.933000	0.57130|0.57130	5.020000|5.020000	0.64066|0.64066	2.884000|2.884000	0.98904|0.98904	0.655000|0.655000	0.94253|0.94253	GCA|CAA		0.572	IMP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254520.2	NM_033416		7	22	0	0	0	1	0	7	22					T	131103658	C	T	131103658	3	4	369	1	0	0	0	0	1	0	0	0	7720	710	25	3	688	3	IMP4	2	131103658	Missense_Mutation	SNP	C	TCGA-V1-A8MG-01A-11D-A364-08	109853884	131103658	112095715	7	18374											
LRP1B	53353	broad.mit.edu	37	chr2	141571318	141571318	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ccaggttgcatctatttatgGttccattccctgaactgatc	8	15	7	11	0	1	2	0	2	1	0	4	2	3	2	3	2	2	3	3	2	3	6			TCGA-V1-A8MG-01A-11D-A364-08	TCGA-V1-A8MG-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c1166ce-10f5-4e3d-93b6-bfdf96fddc4e	335eea2f-41a0-419e-9da3-316bb8514aa2	g.chr2:141571318G>A	ENST00000389484.3	-	32	6238	c.5267C>T	c.(5266-5268)aCc>aTc	p.T1756I		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	1756					protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TCTATTTATGGTTCCATTCCC	0.348										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	ENST00000389484.3																			0				NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606						c.(5266-5268)aCc>aTc		low density lipoprotein receptor-related protein 1B							157	139	145					2																	141571318		2203	4300	6503	SO:0001583	missense	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141571318G>A	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"Low density lipoprotein receptors"	6693	protein-coding gene	gene with protein product	"LRP-deleted in tumors"	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.5267C>T	2.37:g.141571318G>A	ENSP00000374135:p.Thr1756Ile	TSP Lung(27;0.18)					p.T1756I	NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)	32	6238	-		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)	1756					Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	c.5267C>T	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.283654	0.80803	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	D	0.91740	-2.9	5.93	5.93	0.95920	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.85682	D	0.000000	D	0.95408	0.8509	M	0.61703	1.905	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	D	0.93112	0.6517	10	0.27082	T	0.32	.	20.3368	0.98748	0.0:0.0:1.0:0.0	.	1756	Q9NZR2	LRP1B_HUMAN	I	1756;1694	ENSP00000374135:T1756I	ENSP00000374135:T1756I	T	-	2	0	LRP1B	141287788	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.808000	0.99193	2.805000	0.96524	0.655000	0.94253	ACC		0.348	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		3	55	0	0	0	1	0	3	55					A	141571318	G	A	141571318	3	1	369	1	0	0	0	0	1	0	0	0	8955	1261	44	3	8772	3	LRP1B	2	141571318	Missense_Mutation	SNP	G	TCGA-V1-A8MG-01A-11D-A364-08	10467660	141571318	101628055	8	18375											
PER2	8864	broad.mit.edu	37	chr2	239157852	239157852	+	Splice_Site	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cttcaaaaccgcttctaaatTtcttcgcaagatatttagaa	14	14	4	9	2	3	2	1	0	2	2	4	2	3	2	1	0	1	2	1	0	8	8			TCGA-V1-A8MG-01A-11D-A364-08	TCGA-V1-A8MG-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c1166ce-10f5-4e3d-93b6-bfdf96fddc4e	335eea2f-41a0-419e-9da3-316bb8514aa2	g.chr2:239157852T>G	ENST00000254657.3	-	22	3748	c.3469A>C	c.(3469-3471)Aat>Cat	p.N1157H	PER2_ENST00000254658.3_3'UTR|AC096574.4_ENST00000456601.1_RNA	NM_022817.2	NP_073728.1	O15055	PER2_HUMAN	period circadian clock 2	1157	CRY binding domain. {ECO:0000250|UniProtKB:Q9Z301}.				circadian regulation of gene expression (GO:0032922)|circadian regulation of translation (GO:0097167)|circadian rhythm (GO:0007623)|fatty acid metabolic process (GO:0006631)|gluconeogenesis (GO:0006094)|glycogen biosynthetic process (GO:0005978)|histone H3 deacetylation (GO:0070932)|lactate biosynthetic process (GO:0019249)|negative regulation of circadian rhythm (GO:0042754)|negative regulation of DNA-templated transcription, termination (GO:0060567)|negative regulation of fat cell proliferation (GO:0070345)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of cell cycle (GO:0051726)|regulation of circadian rhythm (GO:0042752)|regulation of glutamate uptake involved in transmission of nerve impulse (GO:0051946)|regulation of insulin secretion (GO:0050796)|regulation of neurogenesis (GO:0050767)|regulation of vasoconstriction (GO:0019229)|response to ischemia (GO:0002931)|transcription, DNA-templated (GO:0006351)|white fat cell differentiation (GO:0050872)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	pre-mRNA binding (GO:0036002)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)|transcription factor binding transcription factor activity (GO:0000989)|transcription regulatory region sequence-specific DNA binding (GO:0000976)|ubiquitin binding (GO:0043130)			NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0423)|all_lung(227;0.114)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Lung NSC(271;0.223)|Hepatocellular(293;0.244)		Epithelial(121;6.84e-24)|OV - Ovarian serous cystadenocarcinoma(60;9.73e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;6.77e-05)|Lung(119;0.00941)|LUSC - Lung squamous cell carcinoma(224;0.0161)		GCTTCTAAATTTCTTCGCAAG	0.393																																						ENST00000254657.3																			0				NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						c.e22-1		period circadian clock 2							90	99	96					2																	239157852		2203	4300	6503	SO:0001630	splice_region_variant	8864				circadian rhythm|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	protein binding|signal transducer activity	g.chr2:239157852T>G	AB002345	CCDS2528.1	2q37.3	2012-12-13	2012-12-13		ENSG00000132326	ENSG00000132326			8846	protein-coding gene	gene with protein product		603426	"period (Drosophila) homolog 2", "period homolog 2 (Drosophila)"			9427249, 17218255	Standard	NM_022817		Approved	KIAA0347	uc002vyc.3	O15055	OTTHUMG00000152884	ENST00000254657.3:c.3468-1A>C	2.37:g.239157852T>G						AC096574.4_ENST00000456601.1_RNA|PER2_ENST00000254658.3_3'UTR	p.N1157_splice	NM_022817.2	NP_073728.1	O15055	PER2_HUMAN		Epithelial(121;6.84e-24)|OV - Ovarian serous cystadenocarcinoma(60;9.73e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;6.77e-05)|Lung(119;0.00941)|LUSC - Lung squamous cell carcinoma(224;0.0161)	22	3748	-		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0423)|all_lung(227;0.114)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Lung NSC(271;0.223)|Hepatocellular(293;0.244)	1157			CRY binding domain (By similarity).		A2I2P7|Q4ZG49|Q6DT41|Q9UQ45	Splice_Site	SNP	ENST00000254657.3	37	c.3467_splice	CCDS2528.1	.	.	.	.	.	.	.	.	.	.	T	16.16	3.044630	0.55110	.	.	ENSG00000132326	ENST00000254657	T	0.14144	2.53	5.22	0.512	0.16994	Period circadian-like, C-terminal (1);	0.219012	0.45867	D	0.000335	T	0.25419	0.0618	L	0.56769	1.78	0.58432	D	0.999997	D;D	0.61080	0.989;0.989	P;P	0.61070	0.883;0.837	T	0.00792	-1.1564	10	0.72032	D	0.01	-9.274	10.1282	0.42663	0.0:0.6587:0.0:0.3413	.	1157;1157	B4DH14;O15055	.;PER2_HUMAN	H	1157	ENSP00000254657:N1157H	ENSP00000254657:N1157H	N	-	1	0	PER2	238822591	0.229000	0.23729	0.005000	0.12908	0.023000	0.10783	0.101000	0.15251	-0.073000	0.12842	0.533000	0.62120	AAT		0.393	PER2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257167.1	NM_022817	Missense_Mutation	3	71	0	0	0	1	0	3	71					G	239157852	T	G	239157852	5	3	369	1	0	0	0	0	0	0	1	0	11730	1855	64	5	306	5	PER2	2	239157852	Splice_Site	SNP	T	TCGA-V1-A8MG-01A-11D-A364-08	97586534	239157852	4041521	9	18376											
IGSF10	285313	broad.mit.edu	37	chr3	151164494	151164494	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atgggactctagcaatgtcaGctttggggaaggtgatggga	10	10	16	5	0	2	1	1	1	1	0	2	4	2	4	0	5	2	2	0	5	3	2			TCGA-V1-A8MG-01A-11D-A364-08	TCGA-V1-A8MG-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c1166ce-10f5-4e3d-93b6-bfdf96fddc4e	335eea2f-41a0-419e-9da3-316bb8514aa2	g.chr3:151164494G>A	ENST00000282466.3	-	4	3274	c.3275C>T	c.(3274-3276)gCt>gTt	p.A1092V		NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	1092					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)	extracellular region (GO:0005576)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			AGCAATGTCAGCTTTGGGGAA	0.483																																						ENST00000282466.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116						c.(3274-3276)gCt>gTt		immunoglobulin superfamily, member 10							138	141	140					3																	151164494		2203	4300	6503	SO:0001583	missense	285313				cell differentiation|multicellular organismal development|ossification	extracellular region		g.chr3:151164494G>A	AY273815	CCDS3160.1	3q25.1	2013-01-11			ENSG00000152580	ENSG00000152580		"Immunoglobulin superfamily / I-set domain containing"	26384	protein-coding gene	gene with protein product						12477932	Standard	NM_178822		Approved	FLJ25972, CMF608	uc011bod.2	Q6WRI0	OTTHUMG00000159856	ENST00000282466.3:c.3275C>T	3.37:g.151164494G>A	ENSP00000282466:p.Ala1092Val						p.A1092V	NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)		4	3274	-			1092					Q86YJ9|Q8N772|Q8NA84	Missense_Mutation	SNP	ENST00000282466.3	37	c.3275C>T	CCDS3160.1	.	.	.	.	.	.	.	.	.	.	G	5.226	0.227108	0.09916	.	.	ENSG00000152580	ENST00000282466	T	0.68181	-0.31	5.46	4.47	0.54385	.	0.554242	0.15183	N	0.276013	T	0.48447	0.1500	L	0.29908	0.895	0.09310	N	1	B	0.24721	0.11	B	0.23150	0.044	T	0.22243	-1.0222	10	0.16896	T	0.51	.	6.2437	0.20805	0.1197:0.0:0.6382:0.2421	.	1092	Q6WRI0	IGS10_HUMAN	V	1092	ENSP00000282466:A1092V	ENSP00000282466:A1092V	A	-	2	0	IGSF10	152647184	0.000000	0.05858	0.125000	0.21846	0.021000	0.10359	0.554000	0.23407	2.564000	0.86499	0.591000	0.81541	GCT		0.483	IGSF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357782.1	NM_178822		10	81	0	0	0	1	0	10	81					A	151164494	G	A	151164494	3	1	369	1	0	0	0	0	1	0	0	0	7597	971	34	3	4656	3	IGSF10	3	151164494	Missense_Mutation	SNP	G	TCGA-V1-A8MG-01A-11D-A364-08		151164494	46857936	10	18377											
PRDM5	11107	broad.mit.edu	37	chr4	121702371	121702371	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cacacctatacttcttgtgtCtttcatgaaccacctggaca	10	13	5	13	0	3	1	1	1	2	0	3	2	3	2	3	1	2	0	3	1	3	5			TCGA-V1-A8MG-01A-11D-A364-08	TCGA-V1-A8MG-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c1166ce-10f5-4e3d-93b6-bfdf96fddc4e	335eea2f-41a0-419e-9da3-316bb8514aa2	g.chr4:121702371C>T	ENST00000264808.3	-	12	1610	c.1370G>A	c.(1369-1371)aGa>aAa	p.R457K	PRDM5_ENST00000515109.1_Missense_Mutation_p.R426K|PRDM5_ENST00000428209.2_Missense_Mutation_p.R426K	NM_018699.2	NP_061169.2	Q9NQX1	PRDM5_HUMAN	PR domain containing 5	457					histone deacetylation (GO:0016575)|histone H3-K9 methylation (GO:0051567)|mitotic cell cycle (GO:0000278)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)|repressing transcription factor binding (GO:0070491)|sequence-specific DNA binding (GO:0043565)|transcription regulatory region DNA binding (GO:0044212)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(17)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						CTTCTTGTGTCTTTCATGAAC	0.393																																						ENST00000264808.3																			0				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(17)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						c.(1369-1371)aGa>aAa		PR domain containing 5							176	145	155					4																	121702371		2203	4300	6503	SO:0001583	missense	11107				histone deacetylation|histone H3-K9 methylation|mitotic cell cycle|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	repressing transcription factor binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding	g.chr4:121702371C>T	AF272897	CCDS3716.1, CCDS75187.1, CCDS75188.1	4q25-q26	2013-01-08			ENSG00000138738	ENSG00000138738		"Zinc fingers, C2H2-type"	9349	protein-coding gene	gene with protein product		614161					Standard	XM_005262706		Approved	PFM2	uc003idn.3	Q9NQX1	OTTHUMG00000132970	ENST00000264808.3:c.1370G>A	4.37:g.121702371C>T	ENSP00000264808:p.Arg457Lys					PRDM5_ENST00000428209.2_Missense_Mutation_p.R426K|PRDM5_ENST00000515109.1_Missense_Mutation_p.R426K	p.R457K	NM_018699.2	NP_061169.2	Q9NQX1	PRDM5_HUMAN			12	1610	-			457					Q0VAI9|Q0VAJ0|Q6NXQ7	Missense_Mutation	SNP	ENST00000264808.3	37	c.1370G>A	CCDS3716.1	.	.	.	.	.	.	.	.	.	.	C	24.4	4.530592	0.85706	.	.	ENSG00000138738	ENST00000264808;ENST00000515109;ENST00000428209	T;T;T	0.15487	2.42;2.42;2.42	5.9	5.9	0.94986	Zinc finger, C2H2 (1);	0.048483	0.85682	D	0.000000	T	0.17323	0.0416	N	0.17474	0.49	0.80722	D	1	B;B;B	0.31655	0.334;0.102;0.334	B;B;B	0.36959	0.237;0.054;0.237	T	0.07635	-1.0762	10	0.87932	D	0	-11.0878	20.2704	0.98474	0.0:1.0:0.0:0.0	.	426;426;457	Q0VAI9;Q9NQX1-2;Q9NQX1	.;.;PRDM5_HUMAN	K	457;426;426	ENSP00000264808:R457K;ENSP00000422309:R426K;ENSP00000404832:R426K	ENSP00000264808:R457K	R	-	2	0	PRDM5	121921821	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.669000	0.83911	2.793000	0.96121	0.591000	0.81541	AGA		0.393	PRDM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256528.2			11	41	0	0	0	1	0	11	41					T	121702371	C	T	121702371	3	4	369	1	0	0	0	0	1	0	0	0	12460	913	32	3	542	3	PRDM5	4	121702371	Missense_Mutation	SNP	C	TCGA-V1-A8MG-01A-11D-A364-08		121702371	69451905	11	18378											
C6	729	broad.mit.edu	37	chr5	41201771	41201771	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtctcctgcttgctgcaaatCtgttcacaaaagttttcctg	8	15	7	11	0	3	0	1	0	2	0	5	0	4	0	2	0	3	5	2	0	3	4			TCGA-V1-A8MG-01A-11D-A364-08	TCGA-V1-A8MG-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c1166ce-10f5-4e3d-93b6-bfdf96fddc4e	335eea2f-41a0-419e-9da3-316bb8514aa2	g.chr5:41201771C>G	ENST00000263413.3	-	3	453	c.189G>C	c.(187-189)caG>caC	p.Q63H	C6_ENST00000337836.5_Missense_Mutation_p.Q63H	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	63	TSP type-1 1. {ECO:0000255|PROSITE- ProRule:PRU00210}.				complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane attack complex (GO:0005579)				central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				TGCTGCAAATCTGTTCACAAA	0.423																																						ENST00000263413.3																			0				central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96						c.(187-189)caG>caC		complement component 6							109	107	108					5																	41201771		2203	4300	6503	SO:0001583	missense	729				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding	g.chr5:41201771C>G	J05024	CCDS3936.1	5p13.1	2014-09-17			ENSG00000039537	ENSG00000039537		"Complement system"	1339	protein-coding gene	gene with protein product		217050					Standard	NM_001115131		Approved		uc003jmk.3	P13671	OTTHUMG00000094781	ENST00000263413.3:c.189G>C	5.37:g.41201771C>G	ENSP00000263413:p.Gln63His					C6_ENST00000337836.5_Missense_Mutation_p.Q63H	p.Q63H	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN			3	453	-		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)	63			TSP type-1 1.			Missense_Mutation	SNP	ENST00000263413.3	37	c.189G>C	CCDS3936.1	.	.	.	.	.	.	.	.	.	.	C	9.519	1.107790	0.20714	.	.	ENSG00000039537	ENST00000337836;ENST00000263413;ENST00000417809	T;T;T	0.53423	0.62;0.62;0.62	5.92	2.18	0.27775	.	0.556884	0.21802	N	0.068908	T	0.38665	0.1049	L	0.52266	1.64	0.09310	N	1	B	0.17852	0.024	B	0.25405	0.06	T	0.37384	-0.9708	10	0.62326	D	0.03	-0.0056	5.1103	0.14806	0.0:0.4941:0.139:0.3669	.	63	P13671	CO6_HUMAN	H	63	ENSP00000338861:Q63H;ENSP00000263413:Q63H;ENSP00000396565:Q63H	ENSP00000263413:Q63H	Q	-	3	2	C6	41237528	0.113000	0.22115	0.155000	0.22561	0.577000	0.36160	0.524000	0.22940	0.118000	0.18165	-0.136000	0.14681	CAG		0.423	C6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211592.1			3	55	0	0	0	1	0	3	55					G	41201771	C	G	41201771	3	3	369	1	0	0	0	0	1	0	0	0	2315	912	32	5	2679	5	C6	5	41201771	Missense_Mutation	SNP	C	TCGA-V1-A8MG-01A-11D-A364-08		41201771	139713489	12	18379											
GPR98	84059	broad.mit.edu	37	chr5	89981695	89981695	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gaactcttcagctctcagcaCcaattgtccgagtggcagaa	11	9	9	12	1	3	1	2	0	2	1	5	3	4	1	2	1	3	3	2	1	3	2			TCGA-V1-A8MG-01A-11D-A364-08	TCGA-V1-A8MG-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c1166ce-10f5-4e3d-93b6-bfdf96fddc4e	335eea2f-41a0-419e-9da3-316bb8514aa2	g.chr5:89981695C>T	ENST00000405460.2	+	29	6469	c.6373C>T	c.(6373-6375)Cca>Tca	p.P2125S		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	2125	Calx-beta 15. {ECO:0000255}.				detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		GCTCTCAGCACCAATTGTCCG	0.433																																						ENST00000405460.2																			0				NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269						c.(6373-6375)Cca>Tca		G protein-coupled receptor 98							106	96	99					5																	89981695		1934	4137	6071	SO:0001583	missense	84059				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr5:89981695C>T	AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"-", "GPCR / Class B : Orphans"	17416	protein-coding gene	gene with protein product		602851	"monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.6373C>T	5.37:g.89981695C>T	ENSP00000384582:p.Pro2125Ser						p.P2125S	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)	29	6469	+		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)	2125					O75171|Q8TF58|Q9H0X5|Q9UL61	Missense_Mutation	SNP	ENST00000405460.2	37	c.6373C>T	CCDS47246.1	.	.	.	.	.	.	.	.	.	.	C	3.639	-0.073930	0.07184	.	.	ENSG00000164199	ENST00000405460;ENST00000296619;ENST00000399043	T	0.29655	1.56	5.8	2.01	0.26516	Na-Ca exchanger/integrin-beta4 (2);	0.219986	0.49916	N	0.000134	T	0.07818	0.0196	N	0.00926	-1.1	0.80722	D	1	B	0.16802	0.019	B	0.22753	0.041	T	0.11299	-1.0593	10	0.20519	T	0.43	.	1.6343	0.02739	0.2576:0.4229:0.1257:0.1937	.	2125	Q8WXG9	GPR98_HUMAN	S	2125	ENSP00000384582:P2125S	ENSP00000296619:P2125S	P	+	1	0	GPR98	90017451	0.005000	0.15991	0.013000	0.15412	0.573000	0.36030	0.085000	0.14912	0.345000	0.23873	0.591000	0.81541	CCA		0.433	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2	NM_032119		3	16	0	0	0	1	0	3	16					T	89981695	C	T	89981695	3	4	369	1	0	0	0	0	1	0	0	0	6721	507	18	3	6487	3	GPR98	5	89981695	Missense_Mutation	SNP	C	TCGA-V1-A8MG-01A-11D-A364-08	48779924	89981695	90933565	13	18380											
FAM71B	153745	broad.mit.edu	37	chr5	156590508	156590508	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gctgctcctccttcagcagcCcctggagtgctcgtggatgg	4	10	13	14	1	1	0	1	0	0	0	4	2	3	2	4	3	4	4	4	3	0	1	rs374456009		TCGA-V1-A8MG-01A-11D-A364-08	TCGA-V1-A8MG-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c1166ce-10f5-4e3d-93b6-bfdf96fddc4e	335eea2f-41a0-419e-9da3-316bb8514aa2	g.chr5:156590508C>G	ENST00000302938.4	-	2	863	c.768G>C	c.(766-768)ggG>ggC	p.G256G		NM_130899.2	NP_570969.2	Q8TC56	FA71B_HUMAN	family with sequence similarity 71, member B	256	Ala-rich.					nucleus (GO:0005634)				NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CTTCAGCAGCCCCTGGAGTGC	0.582																																						ENST00000302938.4																			0				NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68						c.(766-768)ggG>ggC		family with sequence similarity 71, member B							91	78	82					5																	156590508		2203	4300	6503	SO:0001819	synonymous_variant	153745					nucleus		g.chr5:156590508C>G		CCDS4335.1	5q33.3	2005-08-09			ENSG00000170613	ENSG00000170613			28397	protein-coding gene	gene with protein product						12477932	Standard	NM_130899		Approved	MGC26988	uc003lwn.3	Q8TC56	OTTHUMG00000130246	ENST00000302938.4:c.768G>C	5.37:g.156590508C>G							p.G256G	NM_130899.2	NP_570969.2	Q8TC56	FA71B_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		2	863	-	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	256			Ala-rich.		Q1EDD9|Q8TC64|Q96LY8	Silent	SNP	ENST00000302938.4	37	c.768G>C	CCDS4335.1																																																																																				0.582	FAM71B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252570.2	NM_130899		7	48	0	0	0	1	0	7	48					G	156590508	C	G	156590508	2	3	369	1	0	0	0	0	0	0	0	1	5608	610	22	5		5	FAM71B	5	156590508	Silent	SNP	C	TCGA-V1-A8MG-01A-11D-A364-08	66608813	156590508	24324752	14	18381											
RSPO3	84870	broad.mit.edu	37	chr6	127469958	127469958	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	aagtggatattatggaactcGatatccagatataaataagt	17	12	8	4	1	0	1	0	0	0	1	2	4	1	3	1	2	1	0	1	2	9	6			TCGA-V1-A8MG-01A-11D-A364-08	TCGA-V1-A8MG-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c1166ce-10f5-4e3d-93b6-bfdf96fddc4e	335eea2f-41a0-419e-9da3-316bb8514aa2	g.chr6:127469958G>C	ENST00000356698.4	+	2	852	c.263G>C	c.(262-264)cGa>cCa	p.R88P	RSPO3_ENST00000368317.3_Missense_Mutation_p.R88P|RSPO3_ENST00000485757.1_3'UTR	NM_032784.3	NP_116173.2	Q9BXY4	RSPO3_HUMAN	R-spondin 3	88					branching involved in labyrinthine layer morphogenesis (GO:0060670)|canonical Wnt signaling pathway (GO:0060070)	extracellular region (GO:0005576)	heparin binding (GO:0008201)|receptor binding (GO:0005102)		PTPRK/RSPO3(10)	breast(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(8)|skin(1)	17				GBM - Glioblastoma multiforme(226;0.0555)		TATGGAACTCGATATCCAGAT	0.363																																						ENST00000356698.4																		PTPRK/RSPO3(10)	0				breast(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(8)|skin(1)	17						c.(262-264)cGa>cCa		R-spondin 3							125	119	121					6																	127469958		2203	4300	6503	SO:0001583	missense	84870					extracellular region	heparin binding	g.chr6:127469958G>C	BC022367	CCDS5135.1	6q22.33	2013-02-28	2011-06-29	2005-08-08	ENSG00000146374	ENSG00000146374		"Endogenous ligands"	20866	protein-coding gene	gene with protein product		610574	"thrombospondin, type I, domain containing 2", "R-spondin 3 homolog (Xenopus laevis)"	THSD2		10842357, 15469841	Standard	NM_032784		Approved	FLJ14440	uc003qar.3	Q9BXY4	OTTHUMG00000015521	ENST00000356698.4:c.263G>C	6.37:g.127469958G>C	ENSP00000349131:p.Arg88Pro					RSPO3_ENST00000485757.1_3'UTR|RSPO3_ENST00000368317.3_Missense_Mutation_p.R88P	p.R88P	NM_032784.3	NP_116173.2	Q9BXY4	RSPO3_HUMAN		GBM - Glioblastoma multiforme(226;0.0555)	2	852	+			88					B2RC27|Q5VTV4|Q96K87	Missense_Mutation	SNP	ENST00000356698.4	37	c.263G>C	CCDS5135.1	.	.	.	.	.	.	.	.	.	.	G	27.5	4.841545	0.91197	.	.	ENSG00000146374	ENST00000356698;ENST00000368317	D;D	0.90676	-2.71;-2.71	5.73	5.73	0.89815	Growth factor, receptor (1);	0.000000	0.85682	D	0.000000	D	0.93061	0.7791	L	0.45228	1.405	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.997	D	0.93324	0.6695	10	0.72032	D	0.01	-15.5343	19.9155	0.97058	0.0:0.0:1.0:0.0	.	88;88	Q9BXY4-2;Q9BXY4	.;RSPO3_HUMAN	P	88	ENSP00000349131:R88P;ENSP00000357300:R88P	ENSP00000349131:R88P	R	+	2	0	RSPO3	127511651	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.476000	0.97823	2.699000	0.92147	0.650000	0.86243	CGA		0.363	RSPO3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042111.1	NM_032784		3	61	0	0	0	1	0	3	61					C	127469958	G	C	127469958	3	2	369	1	0	0	0	0	1	0	0	0	13711	1058	37	5	269	5	RSPO3	6	127469958	Missense_Mutation	SNP	G	TCGA-V1-A8MG-01A-11D-A364-08		127469958	43645109	15	18382											
RSPO3	84870	broad.mit.edu	37	chr6	127471649	127471649	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tggattttacttacaccttgGaaagtgccttgacaattgcc	10	14	8	9	0	0	1	0	1	0	0	0	3	0	3	3	2	4	0	3	2	4	6			TCGA-V1-A8MG-01A-11D-A364-08	TCGA-V1-A8MG-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c1166ce-10f5-4e3d-93b6-bfdf96fddc4e	335eea2f-41a0-419e-9da3-316bb8514aa2	g.chr6:127471649G>A	ENST00000356698.4	+	3	957	c.368G>A	c.(367-369)gGa>gAa	p.G123E	RSPO3_ENST00000368317.3_Missense_Mutation_p.G123E|RSPO3_ENST00000485757.1_3'UTR	NM_032784.3	NP_116173.2	Q9BXY4	RSPO3_HUMAN	R-spondin 3	123					branching involved in labyrinthine layer morphogenesis (GO:0060670)|canonical Wnt signaling pathway (GO:0060070)	extracellular region (GO:0005576)	heparin binding (GO:0008201)|receptor binding (GO:0005102)		PTPRK/RSPO3(10)	breast(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(8)|skin(1)	17				GBM - Glioblastoma multiforme(226;0.0555)		TTACACCTTGGAAAGTGCCTT	0.373																																						ENST00000356698.4																		PTPRK/RSPO3(10)	0				breast(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(8)|skin(1)	17						c.(367-369)gGa>gAa		R-spondin 3							121	116	118					6																	127471649		2203	4300	6503	SO:0001583	missense	84870					extracellular region	heparin binding	g.chr6:127471649G>A	BC022367	CCDS5135.1	6q22.33	2013-02-28	2011-06-29	2005-08-08	ENSG00000146374	ENSG00000146374		"Endogenous ligands"	20866	protein-coding gene	gene with protein product		610574	"thrombospondin, type I, domain containing 2", "R-spondin 3 homolog (Xenopus laevis)"	THSD2		10842357, 15469841	Standard	NM_032784		Approved	FLJ14440	uc003qar.3	Q9BXY4	OTTHUMG00000015521	ENST00000356698.4:c.368G>A	6.37:g.127471649G>A	ENSP00000349131:p.Gly123Glu					RSPO3_ENST00000485757.1_3'UTR|RSPO3_ENST00000368317.3_Missense_Mutation_p.G123E	p.G123E	NM_032784.3	NP_116173.2	Q9BXY4	RSPO3_HUMAN		GBM - Glioblastoma multiforme(226;0.0555)	3	957	+			123					B2RC27|Q5VTV4|Q96K87	Missense_Mutation	SNP	ENST00000356698.4	37	c.368G>A	CCDS5135.1	.	.	.	.	.	.	.	.	.	.	G	29.7	5.030922	0.93575	.	.	ENSG00000146374	ENST00000356698;ENST00000368317	D;D	0.84944	-1.92;-1.92	5.73	5.73	0.89815	Growth factor, receptor (1);Epidermal growth factor-like (1);	0.000000	0.85682	D	0.000000	D	0.91300	0.7257	M	0.68728	2.09	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.91033	0.4865	10	0.87932	D	0	.	20.263	0.98456	0.0:0.0:1.0:0.0	.	123;123	Q9BXY4-2;Q9BXY4	.;RSPO3_HUMAN	E	123	ENSP00000349131:G123E;ENSP00000357300:G123E	ENSP00000349131:G123E	G	+	2	0	RSPO3	127513342	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.813000	0.99286	2.868000	0.98415	0.555000	0.69702	GGA		0.373	RSPO3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042111.1	NM_032784		4	51	0	0	0	1	0	4	51					A	127471649	G	A	127471649	3	1	369	1	0	0	0	0	1	0	0	0	13711	1174	41	3	378	3	RSPO3	6	127471649	Missense_Mutation	SNP	G	TCGA-V1-A8MG-01A-11D-A364-08	1691	127471649	43643418	16	18383											
ATP6V0D2	245972	broad.mit.edu	37	chr8	87126109	87126109	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacatttctcacctatatgaCgtaagtgatgacagaaagcc	14	10	7	10	1	1	4	1	3	1	1	2	4	1	4	2	0	1	1	2	0	4	4			TCGA-V1-A8MG-01A-11D-A364-08	TCGA-V1-A8MG-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c1166ce-10f5-4e3d-93b6-bfdf96fddc4e	335eea2f-41a0-419e-9da3-316bb8514aa2	g.chr8:87126109C>T	ENST00000285393.3	+	2	444	c.302C>T	c.(301-303)aCg>aTg	p.T101M	CTD-3118D11.2_ENST00000522679.1_RNA	NM_152565.1	NP_689778.1	Q8N8Y2	VA0D2_HUMAN	ATPase, H+ transporting, lysosomal 38kDa, V0 subunit d2	101					ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|early endosome (GO:0005769)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|phagocytic vesicle membrane (GO:0030670)|proton-transporting V-type ATPase, V0 domain (GO:0033179)|vacuolar proton-transporting V-type ATPase complex (GO:0016471)	hydrogen ion transmembrane transporter activity (GO:0015078)	p.T101M(1)		breast(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(9)|prostate(1)	27						ACCTATATGACGTAAGTGATG	0.453																																						ENST00000285393.3																			1	Substitution - Missense(1)	p.T101M(1)	large_intestine(1)	breast(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(9)|prostate(1)	27						c.e2+1		ATPase, H+ transporting, lysosomal 38kDa, V0 subunit d2							90	91	91					8																	87126109		2203	4300	6503	SO:0001630	splice_region_variant	245972				ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	apical plasma membrane|endosome membrane|proton-transporting V-type ATPase, V0 domain|vacuolar proton-transporting V-type ATPase complex	hydrogen ion transmembrane transporter activity|protein binding	g.chr8:87126109C>T	AY079172	CCDS6241.1	8q21.3	2014-01-28	2006-01-20	2002-05-24	ENSG00000147614	ENSG00000147614		"ATPases / V-type"	18266	protein-coding gene	gene with protein product			"ATPase, H+ transporting, lysosomal 38kD, V0 subunit d isoform 2", "ATPase, H+ transporting, lysosomal 38kDa, V0 subunit d isoform 2", "ATPase, H+ transporting, lysosomal 38kDa, V0 subunit D2"			12384298	Standard	NM_152565		Approved	FLJ38708, VMA6, ATP6D2	uc003ydp.1	Q8N8Y2	OTTHUMG00000163637	ENST00000285393.3:c.302+1C>T	8.37:g.87126109C>T						CTD-3118D11.2_ENST00000522679.1_RNA	p.T101_splice	NM_152565.1	NP_689778.1	Q8N8Y2	VA0D2_HUMAN			2	444	+			101						Splice_Site	SNP	ENST00000285393.3	37	c.302_splice	CCDS6241.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.097648	0.76870	.	.	ENSG00000147614	ENST00000285393	T	0.33654	1.4	5.42	5.42	0.78866	.	0.000000	0.85682	D	0.000000	T	0.69495	0.3117	M	0.92219	3.285	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.76694	-0.2865	10	0.87932	D	0	-2.781	16.8197	0.85742	0.0:1.0:0.0:0.0	.	101	Q8N8Y2	VA0D2_HUMAN	M	101	ENSP00000285393:T101M	ENSP00000285393:T101M	T	+	2	0	ATP6V0D2	87195225	1.000000	0.71417	1.000000	0.80357	0.687000	0.40016	6.044000	0.71012	2.839000	0.97877	0.644000	0.83932	ACG		0.453	ATP6V0D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374651.1	NM_152565	Missense_Mutation	6	77	0	0	0	1	0	6	77					T	87126109	C	T	87126109	5	4	369	1	0	0	0	0	0	0	1	0	1174	550	19	1	308	1	ATP6V0D2	8	87126109	Splice_Site	SNP	C	TCGA-V1-A8MG-01A-11D-A364-08		87126109	59237913	17	18384											
HAS2	3037	broad.mit.edu	37	chr8	122626638	122626638	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cccacccagctttgtttattGttgcaattgcaaacatcttg	9	15	6	11	0	1	0	0	0	1	0	1	0	1	0	2	0	4	5	2	0	3	7			TCGA-V1-A8MG-01A-11D-A364-08	TCGA-V1-A8MG-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c1166ce-10f5-4e3d-93b6-bfdf96fddc4e	335eea2f-41a0-419e-9da3-316bb8514aa2	g.chr8:122626638G>A	ENST00000303924.4	-	4	1907	c.1370C>T	c.(1369-1371)aCa>aTa	p.T457I		NM_005328.2	NP_005319.1	Q92819	HYAS2_HUMAN	hyaluronan synthase 2	457					atrioventricular canal development (GO:0036302)|bone morphogenesis (GO:0060349)|cellular response to fluid shear stress (GO:0071498)|cellular response to interleukin-1 (GO:0071347)|cellular response to platelet-derived growth factor stimulus (GO:0036120)|cellular response to tumor necrosis factor (GO:0071356)|endocardial cushion to mesenchymal transition (GO:0090500)|extracellular matrix assembly (GO:0085029)|extracellular polysaccharide biosynthetic process (GO:0045226)|hyaluronan biosynthetic process (GO:0030213)|kidney development (GO:0001822)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of monocyte aggregation (GO:1900625)|positive regulation of urine volume (GO:0035810)|renal water absorption (GO:0070295)|vasculogenesis (GO:0001570)	integral component of plasma membrane (GO:0005887)	hyaluronan synthase activity (GO:0050501)		HAS2/PLAG1(10)	breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(19)|ovary(5)|skin(1)	38	Lung NSC(37;3.12e-08)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)|all_neural(195;0.142)		STAD - Stomach adenocarcinoma(47;0.00503)			TTTGTTTATTGTTGCAATTGC	0.428																																						ENST00000303924.4																		HAS2/PLAG1(10)	0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(19)|ovary(5)|skin(1)	38						c.(1369-1371)aCa>aTa		hyaluronan synthase 2							137	135	136					8																	122626638		2203	4300	6503	SO:0001583	missense	3037					integral to plasma membrane	hyaluronan synthase activity	g.chr8:122626638G>A	U54804	CCDS6335.1	8q24.12	2013-02-22			ENSG00000170961	ENSG00000170961	2.4.1.212	"Glycosyltransferase family 2 domain containing"	4819	protein-coding gene	gene with protein product		601636				9169154	Standard	NM_005328		Approved		uc003yph.2	Q92819	OTTHUMG00000164953	ENST00000303924.4:c.1370C>T	8.37:g.122626638G>A	ENSP00000306991:p.Thr457Ile						p.T457I	NM_005328.2	NP_005319.1	Q92819	HAS2_HUMAN	STAD - Stomach adenocarcinoma(47;0.00503)		4	1907	-	Lung NSC(37;3.12e-08)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)|all_neural(195;0.142)		457					Q32MM3	Missense_Mutation	SNP	ENST00000303924.4	37	c.1370C>T	CCDS6335.1	.	.	.	.	.	.	.	.	.	.	G	17.65	3.441407	0.63067	.	.	ENSG00000170961	ENST00000303924	T	0.59772	0.24	6.17	5.3	0.74995	.	0.084915	0.85682	D	0.000000	T	0.81153	0.4763	M	0.91612	3.225	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.85938	0.1456	10	0.87932	D	0	-20.116	15.699	0.77528	0.0652:0.0:0.9348:0.0	.	457	Q92819	HAS2_HUMAN	I	457	ENSP00000306991:T457I	ENSP00000306991:T457I	T	-	2	0	HAS2	122695819	1.000000	0.71417	0.979000	0.43373	0.995000	0.86356	9.856000	0.99531	1.630000	0.50440	0.655000	0.94253	ACA		0.428	HAS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381150.2	NM_005328		9	216	0	0	0	1	0	9	216					A	122626638	G	A	122626638	3	1	369	1	0	0	0	0	1	0	0	0	6962	1377	48	3	292	3	HAS2	8	122626638	Missense_Mutation	SNP	G	TCGA-V1-A8MG-01A-11D-A364-08	35500529	122626638	23737384	18	18385											
TOPORS	10210	broad.mit.edu	37	chr9	32541842	32541842	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cattatctccatggtgtttcTtatgcttcttcttatgtttc	5	22	5	9	0	4	0	0	0	4	0	6	0	4	0	1	1	1	3	1	1	3	7			TCGA-V1-A8MG-01A-11D-A364-08	TCGA-V1-A8MG-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c1166ce-10f5-4e3d-93b6-bfdf96fddc4e	335eea2f-41a0-419e-9da3-316bb8514aa2	g.chr9:32541842T>C	ENST00000360538.2	-	3	2797	c.2681A>G	c.(2680-2682)aAg>aGg	p.K894R	TOPORS_ENST00000379858.1_Missense_Mutation_p.K829R	NM_005802.4	NP_005793.2	Q9NS56	TOPRS_HUMAN	topoisomerase I binding, arginine/serine-rich, E3 ubiquitin protein ligase	894	Interaction with UBE2I.|Lys-rich.				cellular response to DNA damage stimulus (GO:0006974)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|maintenance of protein location in nucleus (GO:0051457)|negative regulation of apoptotic process (GO:0043066)|photoreceptor cell outer segment organization (GO:0035845)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K48-linked ubiquitination (GO:0070936)|protein localization to nucleus (GO:0034504)|protein monoubiquitination (GO:0006513)|protein sumoylation (GO:0016925)|regulation of cell proliferation (GO:0042127)|retina layer formation (GO:0010842)|retinal cone cell development (GO:0046549)|retinal rod cell development (GO:0046548)|transcription, DNA-templated (GO:0006351)|ubiquitin-dependent protein catabolic process (GO:0006511)	centriole (GO:0005814)|ciliary basal body (GO:0036064)|gamma-tubulin complex (GO:0000930)|midbody (GO:0030496)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|photoreceptor connecting cilium (GO:0032391)|PML body (GO:0016605)|spindle pole (GO:0000922)|ubiquitin ligase complex (GO:0000151)	antigen binding (GO:0003823)|DNA binding (GO:0003677)|DNA topoisomerase binding (GO:0044547)|SUMO ligase activity (GO:0019789)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			large_intestine(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.0018)		ATGGTGTttcttatgcttctt	0.373																																						ENST00000360538.2																			0				large_intestine(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12						c.(2680-2682)aAg>aGg		topoisomerase I binding, arginine/serine-rich, E3 ubiquitin protein ligase							170	168	169					9																	32541842		2203	4300	6503	SO:0001583	missense	10210				DNA damage response, signal transduction resulting in induction of apoptosis|maintenance of protein location in nucleus|proteasomal ubiquitin-dependent protein catabolic process|protein sumoylation|transcription, DNA-dependent	nuclear speck|PML body	antigen binding|DNA binding|DNA topoisomerase I binding|SUMO ligase activity|ubiquitin-protein ligase activity|zinc ion binding	g.chr9:32541842T>C	AF098300	CCDS6527.1, CCDS56566.1	9p21	2013-01-09	2010-09-17		ENSG00000197579	ENSG00000197579		"RING-type (C3HC4) zinc fingers"	21653	protein-coding gene	gene with protein product		609507	"retinitis pigmentosa 31 (autosomal dominant)", "topoisomerase I binding, arginine/serine-rich"	RP31		10352183, 12083797, 17924349	Standard	NM_005802		Approved	TP53BPL, LUN	uc003zrb.3	Q9NS56	OTTHUMG00000019743	ENST00000360538.2:c.2681A>G	9.37:g.32541842T>C	ENSP00000353735:p.Lys894Arg					TOPORS_ENST00000379858.1_Missense_Mutation_p.K829R	p.K894R	NM_005802.4	NP_005793.2	Q9NS56	TOPRS_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.0018)	3	2797	-			894			Interaction with UBE2I.|Lys-rich.		O43273|Q6P987|Q9NS55|Q9UNR9	Missense_Mutation	SNP	ENST00000360538.2	37	c.2681A>G	CCDS6527.1	.	.	.	.	.	.	.	.	.	.	T	6.644	0.487395	0.12641	.	.	ENSG00000197579	ENST00000360538;ENST00000379858	T;T	0.16457	2.34;2.36	5.81	-0.509	0.11977	.	0.474446	0.18077	N	0.152424	T	0.07098	0.0180	N	0.11560	0.145	0.27889	N	0.939413	B	0.02656	0.0	B	0.13407	0.009	T	0.38156	-0.9674	10	0.18276	T	0.48	-2.6026	7.2978	0.26403	0.0:0.4632:0.1444:0.3923	.	894	Q9NS56	TOPRS_HUMAN	R	894;829	ENSP00000353735:K894R;ENSP00000369187:K829R	ENSP00000353735:K894R	K	-	2	0	TOPORS	32531842	0.997000	0.39634	0.988000	0.46212	0.973000	0.67179	1.247000	0.32815	-0.096000	0.12329	-0.256000	0.11100	AAG		0.373	TOPORS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052007.1	NM_005802		19	94	0	0	0	1	0	19	94					C	32541842	T	C	32541842	3	2	369	1	0	0	0	0	1	0	0	0	16367	1609	56	4	460	4	TOPORS	9	32541842	Missense_Mutation	SNP	T	TCGA-V1-A8MG-01A-11D-A364-08		32541842	108671589	19	18386											
SEMA4D	10507	broad.mit.edu	37	chr9	91994252	91994252	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gacaaggtgggggccactacGggctttggaaccaccttcac	9	7	13	12	1	1	0	1	0	0	0	1	2	1	1	3	5	2	1	3	5	3	3			TCGA-V1-A8MG-01A-11D-A364-08	TCGA-V1-A8MG-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c1166ce-10f5-4e3d-93b6-bfdf96fddc4e	335eea2f-41a0-419e-9da3-316bb8514aa2	g.chr9:91994252G>A	ENST00000450295.1	-	16	2732	c.1956C>T	c.(1954-1956)ccC>ccT	p.P652P	SEMA4D_ENST00000420987.1_Intron|SEMA4D_ENST00000422704.2_Silent_p.P652P|SEMA4D_ENST00000455551.2_Intron|SEMA4D_ENST00000339861.4_Intron|SEMA4D_ENST00000356444.2_Silent_p.P652P|SEMA4D_ENST00000343780.4_Intron|SEMA4D_ENST00000438547.2_Silent_p.P652P			Q92854	SEM4D_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4D	652					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|immune response (GO:0006955)|leukocyte aggregation (GO:0070486)|negative regulation of alkaline phosphatase activity (GO:0010693)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell adhesion (GO:0007162)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of peptidyl-tyrosine phosphorylation (GO:0050732)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|ossification involved in bone maturation (GO:0043931)|positive regulation of cell migration (GO:0030335)|positive regulation of collateral sprouting (GO:0048672)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell projection organization (GO:0031344)|regulation of cell shape (GO:0008360)|regulation of dendrite morphogenesis (GO:0048814)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in bone trabecula morphogenesis (GO:1900220)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)|receptor binding (GO:0005102)|semaphorin receptor binding (GO:0030215)|transmembrane signaling receptor activity (GO:0004888)	p.P652P(1)		NS(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(8)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	34						GGGCCACTACGGGCTTTGGAA	0.557																																						ENST00000450295.1																			1	Substitution - coding silent(1)	p.P652P(1)	lung(1)	NS(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(8)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	34						c.(1954-1956)ccC>ccT		sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4D							142	148	146					9																	91994252		2203	4300	6503	SO:0001819	synonymous_variant	10507				anti-apoptosis|axon guidance|cell adhesion|immune response	integral to membrane|plasma membrane	receptor activity|receptor binding	g.chr9:91994252G>A	U60800	CCDS6685.1, CCDS47991.1	9q22-q31	2013-01-11			ENSG00000187764	ENSG00000187764		"Semaphorins", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	10732	protein-coding gene	gene with protein product	"M-sema G"	601866	"chromosome 9 open reading frame 164"	SEMAJ, C9orf164		8876214, 8969198	Standard	NM_006378		Approved	CD100, coll-4, FLJ39737	uc004aqo.1	Q92854	OTTHUMG00000020185	ENST00000450295.1:c.1956C>T	9.37:g.91994252G>A						SEMA4D_ENST00000339861.4_Intron|SEMA4D_ENST00000438547.2_Silent_p.P652P|SEMA4D_ENST00000356444.2_Silent_p.P652P|SEMA4D_ENST00000420987.1_Intron|SEMA4D_ENST00000422704.2_Silent_p.P652P|SEMA4D_ENST00000343780.4_Intron|SEMA4D_ENST00000455551.2_Intron	p.P652P			Q92854	SEM4D_HUMAN			16	2732	-			652					B2RPM6|Q7Z5S4|Q8N8B0	Silent	SNP	ENST00000450295.1	37	c.1956C>T	CCDS6685.1																																																																																				0.557	SEMA4D-018	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342411.1	NM_006378		8	137	0	0	0	1	0	8	137					A	91994252	G	A	91994252	2	1	369	1	0	0	0	0	0	0	0	1	14034	1103	39	2		2	SEMA4D	9	91994252	Silent	SNP	G	TCGA-V1-A8MG-01A-11D-A364-08	59452410	91994252	49219179	20	18387											
ABCA1	19	broad.mit.edu	37	chr9	107547843	107547843	+	Missense_Mutation	SNP	C	C	T																															cacttccaggaaatgcaagtCcaaagaaatcctggacaggc																										TCGA-V1-A8MG-01A-11D-A364-08	TCGA-V1-A8MG-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c1166ce-10f5-4e3d-93b6-bfdf96fddc4e	335eea2f-41a0-419e-9da3-316bb8514aa2	g.chr9:107547843C>T	ENST00000374736.3	-	49	6873	c.6479G>A	c.(6478-6480)gGa>gAa	p.G2160E		NM_005502.3	NP_005493.2	O95477	ABCA1_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 1	2160					apolipoprotein A-I-mediated signaling pathway (GO:0038027)|cellular lipid metabolic process (GO:0044255)|cellular response to cholesterol (GO:0071397)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to retinoic acid (GO:0071300)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|endosomal transport (GO:0016197)|G-protein coupled receptor signaling pathway (GO:0007186)|high-density lipoprotein particle assembly (GO:0034380)|interleukin-1 beta secretion (GO:0050702)|intracellular cholesterol transport (GO:0032367)|lipoprotein metabolic process (GO:0042157)|lysosome organization (GO:0007040)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|peptide secretion (GO:0002790)|phagocytosis, engulfment (GO:0006911)|phospholipid efflux (GO:0033700)|phospholipid homeostasis (GO:0055091)|phospholipid translocation (GO:0045332)|platelet dense granule organization (GO:0060155)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cholesterol efflux (GO:0010875)|protein lipidation (GO:0006497)|regulation of Cdc42 protein signal transduction (GO:0032489)|response to drug (GO:0042493)|response to laminar fluid shear stress (GO:0034616)|response to low-density lipoprotein particle (GO:0055098)|response to nutrient (GO:0007584)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)	endocytic vesicle (GO:0030139)|external side of plasma membrane (GO:0009897)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)	anion transmembrane transporter activity (GO:0008509)|apolipoprotein A-I binding (GO:0034186)|apolipoprotein A-I receptor activity (GO:0034188)|apolipoprotein binding (GO:0034185)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase binding (GO:0051117)|cholesterol binding (GO:0015485)|cholesterol transporter activity (GO:0017127)|phospholipid binding (GO:0005543)|phospholipid transporter activity (GO:0005548)|receptor binding (GO:0005102)|small GTPase binding (GO:0031267)|syntaxin binding (GO:0019905)			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	115				OV - Ovarian serous cystadenocarcinoma(323;0.023)	Adenosine triphosphate(DB00171)|Glyburide(DB01016)|Probucol(DB01599)	AAATGCAAGTCCAAAGAAATC	0.438																																						ENST00000374736.3																			0				NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	115						c.(6478-6480)gGa>gAa		ATP-binding cassette, sub-family A (ABC1), member 1	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)						100	102	102					9																	107547843		2203	4300	6503	SO:0001583	missense	19				Cdc42 protein signal transduction|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport	integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle	anion transmembrane transporter activity|apolipoprotein A-I receptor activity|ATP binding|ATPase activity|cholesterol transporter activity|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding	g.chr9:107547843C>T	AJ012376	CCDS6762.1	9q31	2014-03-14			ENSG00000165029	ENSG00000165029		"ATP binding cassette transporters / subfamily A"	29	protein-coding gene	gene with protein product	"Tangier disease"	600046		ABC1, HDLDT1		8088782, 10431236, 10431237, 10431238	Standard	NM_005502		Approved	TGD	uc004bcl.3	O95477	OTTHUMG00000020417	ENST00000374736.3:c.6479G>A	9.37:g.107547843C>T	ENSP00000363868:p.Gly2160Glu						p.G2160E	NM_005502.3	NP_005493.2	O95477	ABCA1_HUMAN		OV - Ovarian serous cystadenocarcinoma(323;0.023)	49	6873	-			2160					Q5VX33|Q96S56|Q96T85|Q9NQV4|Q9UN06|Q9UN07|Q9UN08|Q9UN09	Missense_Mutation	SNP	ENST00000374736.3	37	c.6479G>A	CCDS6762.1	.	.	.	.	.	.	.	.	.	.	C	4.277	0.050491	0.08243	.	.	ENSG00000165029	ENST00000374736	T	0.81330	-1.48	6.0	4.08	0.47627	.	0.215214	0.49916	N	0.000138	T	0.47783	0.1464	N	0.00686	-1.255	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.43410	-0.9393	10	0.07990	T	0.79	.	10.5915	0.45312	0.0:0.7862:0.0:0.2138	.	2160	O95477	ABCA1_HUMAN	E	2160	ENSP00000363868:G2160E	ENSP00000363868:G2160E	G	-	2	0	ABCA1	106587664	0.998000	0.40836	1.000000	0.80357	0.985000	0.73830	1.613000	0.36900	0.794000	0.33899	0.650000	0.86243	GGA		0.438	ABCA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053491.1	NM_005502		4	82	0	0	0	1	0	4	82					T	107547843	C	T	107547843	3	4	369	1	0	0	0	0	1	0	0	0	28	855	30	3	314	3	ABCA1	9	107547843	Missense_Mutation	SNP	C	TCGA-V1-A8MG-01A-11D-A364-08	15553591	107547843	33665588	21	18388	94	2									
ABCA1	19	broad.mit.edu	37	chr9	107547844	107547844	+	Missense_Mutation	SNP	C	C	T																															acttccaggaaatgcaagtcCaaagaaatcctggacaggct																										TCGA-V1-A8MG-01A-11D-A364-08	TCGA-V1-A8MG-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c1166ce-10f5-4e3d-93b6-bfdf96fddc4e	335eea2f-41a0-419e-9da3-316bb8514aa2	g.chr9:107547844C>T	ENST00000374736.3	-	49	6872	c.6478G>A	c.(6478-6480)Gga>Aga	p.G2160R		NM_005502.3	NP_005493.2	O95477	ABCA1_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 1	2160					apolipoprotein A-I-mediated signaling pathway (GO:0038027)|cellular lipid metabolic process (GO:0044255)|cellular response to cholesterol (GO:0071397)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to retinoic acid (GO:0071300)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|endosomal transport (GO:0016197)|G-protein coupled receptor signaling pathway (GO:0007186)|high-density lipoprotein particle assembly (GO:0034380)|interleukin-1 beta secretion (GO:0050702)|intracellular cholesterol transport (GO:0032367)|lipoprotein metabolic process (GO:0042157)|lysosome organization (GO:0007040)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|peptide secretion (GO:0002790)|phagocytosis, engulfment (GO:0006911)|phospholipid efflux (GO:0033700)|phospholipid homeostasis (GO:0055091)|phospholipid translocation (GO:0045332)|platelet dense granule organization (GO:0060155)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cholesterol efflux (GO:0010875)|protein lipidation (GO:0006497)|regulation of Cdc42 protein signal transduction (GO:0032489)|response to drug (GO:0042493)|response to laminar fluid shear stress (GO:0034616)|response to low-density lipoprotein particle (GO:0055098)|response to nutrient (GO:0007584)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)	endocytic vesicle (GO:0030139)|external side of plasma membrane (GO:0009897)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)	anion transmembrane transporter activity (GO:0008509)|apolipoprotein A-I binding (GO:0034186)|apolipoprotein A-I receptor activity (GO:0034188)|apolipoprotein binding (GO:0034185)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase binding (GO:0051117)|cholesterol binding (GO:0015485)|cholesterol transporter activity (GO:0017127)|phospholipid binding (GO:0005543)|phospholipid transporter activity (GO:0005548)|receptor binding (GO:0005102)|small GTPase binding (GO:0031267)|syntaxin binding (GO:0019905)	p.G2160R(1)		NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	115				OV - Ovarian serous cystadenocarcinoma(323;0.023)	Adenosine triphosphate(DB00171)|Glyburide(DB01016)|Probucol(DB01599)	AATGCAAGTCCAAAGAAATCC	0.433																																						ENST00000374736.3																			1	Substitution - Missense(1)	p.G2160R(1)	autonomic_ganglia(1)	NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	115						c.(6478-6480)Gga>Aga		ATP-binding cassette, sub-family A (ABC1), member 1	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)						100	102	101					9																	107547844		2203	4300	6503	SO:0001583	missense	19				Cdc42 protein signal transduction|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport	integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle	anion transmembrane transporter activity|apolipoprotein A-I receptor activity|ATP binding|ATPase activity|cholesterol transporter activity|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding	g.chr9:107547844C>T	AJ012376	CCDS6762.1	9q31	2014-03-14			ENSG00000165029	ENSG00000165029		"ATP binding cassette transporters / subfamily A"	29	protein-coding gene	gene with protein product	"Tangier disease"	600046		ABC1, HDLDT1		8088782, 10431236, 10431237, 10431238	Standard	NM_005502		Approved	TGD	uc004bcl.3	O95477	OTTHUMG00000020417	ENST00000374736.3:c.6478G>A	9.37:g.107547844C>T	ENSP00000363868:p.Gly2160Arg						p.G2160R	NM_005502.3	NP_005493.2	O95477	ABCA1_HUMAN		OV - Ovarian serous cystadenocarcinoma(323;0.023)	49	6872	-			2160					Q5VX33|Q96S56|Q96T85|Q9NQV4|Q9UN06|Q9UN07|Q9UN08|Q9UN09	Missense_Mutation	SNP	ENST00000374736.3	37	c.6478G>A	CCDS6762.1	.	.	.	.	.	.	.	.	.	.	C	12.37	1.916301	0.33815	.	.	ENSG00000165029	ENST00000374736	T	0.81330	-1.48	6.0	6.0	0.97389	.	0.215214	0.49916	D	0.000138	T	0.58708	0.2141	N	0.04203	-0.255	0.80722	D	1	B	0.06786	0.001	B	0.09377	0.004	T	0.56751	-0.7927	10	0.15952	T	0.53	.	10.1396	0.42728	0.0:0.7918:0.1378:0.0704	.	2160	O95477	ABCA1_HUMAN	R	2160	ENSP00000363868:G2160R	ENSP00000363868:G2160R	G	-	1	0	ABCA1	106587665	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	3.269000	0.51592	2.850000	0.98022	0.650000	0.86243	GGA		0.433	ABCA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053491.1	NM_005502		4	83	0	0	0	1	0	4	83					T	107547844	C	T	107547844	3	4	369	1	0	0	0	0	1	0	0	0	28	603	21	3	315	3	ABCA1	9	107547844	Missense_Mutation	SNP	C	TCGA-V1-A8MG-01A-11D-A364-08	1	107547844	33665587	22	18389	94	2									
HK1	3098	broad.mit.edu	37	chr10	71139678	71139678	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcctgggagtggagccgtcCgatgatgactgtgtctcagt	6	10	15	10	3	1	2	1	2	1	0	3	5	2	4	3	2	1	0	3	2	0	0			TCGA-V1-A8MG-01A-11D-A364-08	TCGA-V1-A8MG-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c1166ce-10f5-4e3d-93b6-bfdf96fddc4e	335eea2f-41a0-419e-9da3-316bb8514aa2	g.chr10:71139678C>T	ENST00000359426.6	+	9	1196	c.1092C>T	c.(1090-1092)tcC>tcT	p.S364S	HK1_ENST00000360289.2_Silent_p.S352S|HK1_ENST00000448642.2_Silent_p.S399S|HK1_ENST00000404387.2_Silent_p.S368S|HK1_ENST00000494253.1_3'UTR|HK1_ENST00000298649.3_Silent_p.S363S	NM_000188.2	NP_000179.2	P19367	HXK1_HUMAN	hexokinase 1	364	Hexokinase type-2 1.|Regulatory.				carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|cell death (GO:0008219)|cellular glucose homeostasis (GO:0001678)|glucose 6-phosphate metabolic process (GO:0051156)|glucose transport (GO:0015758)|glycolytic process (GO:0006096)|hexose metabolic process (GO:0019318)|hexose transport (GO:0008645)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|fructokinase activity (GO:0008865)|glucokinase activity (GO:0004340)|hexokinase activity (GO:0004396)|mannokinase activity (GO:0019158)			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(14)|ovary(1)|urinary_tract(2)	35						TGGAGCCGTCCGATGATGACT	0.547																																						ENST00000448642.2																			0				breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(14)|ovary(1)|urinary_tract(2)	35						c.(1195-1197)tcC>tcT		hexokinase 1							188	149	162					10																	71139678		2203	4300	6503	SO:0001819	synonymous_variant	3098				glucose transport|glycolysis|transmembrane transport	cytosol|mitochondrial outer membrane|nucleus	ATP binding|glucokinase activity	g.chr10:71139678C>T	M75126	CCDS7289.1, CCDS7290.1, CCDS7291.1, CCDS7292.1	10q22	2014-09-17			ENSG00000156515	ENSG00000156515	2.7.1.1		4922	protein-coding gene	gene with protein product		142600					Standard	NM_033496		Approved		uc001jpi.4	P19367	OTTHUMG00000018380	ENST00000359426.6:c.1092C>T	10.37:g.71139678C>T						HK1_ENST00000359426.6_Silent_p.S364S|HK1_ENST00000494253.1_3'UTR|HK1_ENST00000404387.2_Silent_p.S368S|HK1_ENST00000298649.3_Silent_p.S363S|HK1_ENST00000360289.2_Silent_p.S352S	p.S399S			P19367	HXK1_HUMAN			14	1586	+			364			Regulatory.		E9PCK0|O43443|O43444|O75574|Q5VTC3|Q96HC8|Q9NNZ4|Q9NNZ5	Silent	SNP	ENST00000359426.6	37	c.1197C>T	CCDS7292.1																																																																																				0.547	HK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048429.2	NM_000188		12	70	0	0	0	1	0	12	70					T	71139678	C	T	71139678	2	4	369	1	0	0	0	0	0	0	0	1	7190	639	23	2		2	HK1	10	71139678	Silent	SNP	C	TCGA-V1-A8MG-01A-11D-A364-08		71139678	64395069	23	18390											
KCNC1	3746	broad.mit.edu	37	chr11	17793787	17793787	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cccagcgccagtgagcacacGcactttaagaacatccccat	12	6	7	16	2	0	2	0	1	0	1	1	2	1	2	4	0	3	2	4	0	2	2			TCGA-V1-A8MG-01A-11D-A364-08	TCGA-V1-A8MG-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c1166ce-10f5-4e3d-93b6-bfdf96fddc4e	335eea2f-41a0-419e-9da3-316bb8514aa2	g.chr11:17793787G>A	ENST00000379472.3	+	2	1176	c.1146G>A	c.(1144-1146)acG>acA	p.T382T	KCNC1_ENST00000265969.6_Silent_p.T382T	NM_004976.4	NP_004967.1	P48547	KCNC1_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 1	382					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|voltage-gated potassium channel activity (GO:0005249)	p.T382T(1)		breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(7)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	33					Dalfampridine(DB06637)	GTGAGCACACGCACTTTAAGA	0.602																																						ENST00000379472.3																			1	Substitution - coding silent(1)	p.T382T(1)	prostate(1)	breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(7)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	33						c.(1144-1146)acG>acA		potassium voltage-gated channel, Shaw-related subfamily, member 1							82	79	80					11																	17793787		2200	4293	6493	SO:0001819	synonymous_variant	3746					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr11:17793787G>A	M96747	CCDS7827.1, CCDS44547.1	11p15	2012-07-05			ENSG00000129159	ENSG00000129159		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6233	protein-coding gene	gene with protein product		176258				8449507, 16382104	Standard	NM_004976		Approved	Kv3.1	uc009yhc.1	P48547	OTTHUMG00000166359	ENST00000379472.3:c.1146G>A	11.37:g.17793787G>A						KCNC1_ENST00000265969.6_Silent_p.T382T	p.T382T	NM_004976.4	NP_004967.1	P48547	KCNC1_HUMAN			2	1176	+			382					K4DI87	Silent	SNP	ENST00000379472.3	37	c.1146G>A	CCDS7827.1																																																																																				0.602	KCNC1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389389.1	NM_004976		3	37	0	0	0	1	0	3	37					A	17793787	G	A	17793787	2	1	369	1	0	0	0	0	0	0	0	1	8014	1074	38	1		1	KCNC1	11	17793787	Silent	SNP	G	TCGA-V1-A8MG-01A-11D-A364-08		17793787	117212729	24	18391											
TMEM132A	54972	broad.mit.edu	37	chr11	60704344	60704344	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgaaggaccctgaggagcttCgcaactacatggagaggatc	12	7	13	9	1	0	3	0	2	0	1	2	7	0	6	1	4	3	2	1	4	3	2			TCGA-V1-A8MG-01A-11D-A364-08	TCGA-V1-A8MG-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c1166ce-10f5-4e3d-93b6-bfdf96fddc4e	335eea2f-41a0-419e-9da3-316bb8514aa2	g.chr11:60704344C>T	ENST00000453848.2	+	11	3195	c.3037C>T	c.(3037-3039)Cgc>Tgc	p.R1013C	TMEM132A_ENST00000005286.4_Missense_Mutation_p.R1014C			Q24JP5	T132A_HUMAN	transmembrane protein 132A	1013	Confers cellular localization similar to full-length form. {ECO:0000250}.					endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)		p.R1014C(1)		breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|prostate(1)|skin(3)	32						TGAGGAGCTTCGCAACTACAT	0.647																																						ENST00000005286.4																			1	Substitution - Missense(1)	p.R1014C(1)	large_intestine(1)	breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|prostate(1)|skin(3)	32						c.(3040-3042)Cgc>Tgc		transmembrane protein 132A							31	38	36					11																	60704344		2201	4294	6495	SO:0001583	missense	54972					endoplasmic reticulum membrane|Golgi membrane|integral to membrane		g.chr11:60704344C>T	AK000546	CCDS7997.1, CCDS44618.1	11q12.2	2006-03-02	2006-03-02	2006-03-02	ENSG00000006118	ENSG00000006118			31092	protein-coding gene	gene with protein product			"heat shock 70kDa protein 5 (glucose-regulated protein, 78kDa) binding protein 1"	HSPA5BP1		12514190, 10997877	Standard	NM_017870		Approved	GBP, FLJ20539	uc001nqi.3	Q24JP5	OTTHUMG00000167803	ENST00000453848.2:c.3037C>T	11.37:g.60704344C>T	ENSP00000405823:p.Arg1013Cys					TMEM132A_ENST00000453848.2_Missense_Mutation_p.R1013C	p.R1014C	NM_017870.3|NM_178031.2	NP_060340.2|NP_821174.1	Q24JP5	T132A_HUMAN			11	3193	+			1013			Confers cellular localization similar to full-length form (By similarity).		Q69YU7|Q86VZ8|Q86W97|Q9H8K3|Q9HCI9|Q9NWY0	Missense_Mutation	SNP	ENST00000453848.2	37	c.3040C>T	CCDS44618.1	.	.	.	.	.	.	.	.	.	.	C	19.73	3.881188	0.72294	.	.	ENSG00000006118	ENST00000444690;ENST00000453848;ENST00000005286	T;T	0.13538	2.59;2.58	4.55	3.56	0.40772	.	0.101149	0.41294	D	0.000905	T	0.35856	0.0946	M	0.75085	2.285	0.52099	D	0.999945	D;D	0.89917	1.0;1.0	D;D	0.72982	0.979;0.979	T	0.22487	-1.0215	10	0.87932	D	0	-16.1454	14.3582	0.66752	0.1482:0.8518:0.0:0.0	.	1013;1014	Q24JP5;Q24JP5-2	T132A_HUMAN;.	C	764;1013;1014	ENSP00000405823:R1013C;ENSP00000005286:R1014C	ENSP00000005286:R1014C	R	+	1	0	TMEM132A	60460920	0.238000	0.23825	0.998000	0.56505	0.994000	0.84299	1.069000	0.30641	2.537000	0.85549	0.655000	0.94253	CGC		0.647	TMEM132A-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000396352.1	NM_017870		3	26	0	0	0	1	0	3	26					T	60704344	C	T	60704344	3	4	369	1	0	0	0	0	1	0	0	0	16042	884	31	2	3082	2	TMEM132A	11	60704344	Missense_Mutation	SNP	C	TCGA-V1-A8MG-01A-11D-A364-08	42910557	60704344	74302172	25	18392											
MTMR2	8898	broad.mit.edu	37	chr11	95571268	95571268	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	catattttacctcttttcctCtctgttgttcactattacag	7	20	3	11	0	3	0	1	0	2	0	5	0	4	0	2	0	2	2	2	0	4	9			TCGA-V1-A8MG-01A-11D-A364-08	TCGA-V1-A8MG-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c1166ce-10f5-4e3d-93b6-bfdf96fddc4e	335eea2f-41a0-419e-9da3-316bb8514aa2	g.chr11:95571268C>G	ENST00000346299.5	-	13	1923	c.1583G>C	c.(1582-1584)aGa>aCa	p.R528T	MTMR2_ENST00000393223.3_Missense_Mutation_p.R456T|RNA5SP345_ENST00000410646.1_RNA|MTMR2_ENST00000352297.7_Missense_Mutation_p.R456T|MTMR2_ENST00000409459.1_Missense_Mutation_p.R456T	NM_016156.5	NP_057240.3	Q13614	MTMR2_HUMAN	myotubularin related protein 2	528	Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}.				cell death (GO:0008219)|dendritic spine maintenance (GO:0097062)|inositol phosphate dephosphorylation (GO:0046855)|myelin assembly (GO:0032288)|negative regulation of endocytosis (GO:0045806)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of myelination (GO:0031642)|negative regulation of receptor catabolic process (GO:2000645)|negative regulation of receptor internalization (GO:0002091)|neuron development (GO:0048666)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|positive regulation of early endosome to late endosome transport (GO:2000643)|protein dephosphorylation (GO:0006470)|protein tetramerization (GO:0051262)|small molecule metabolic process (GO:0044281)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|endosome (GO:0005768)|neuronal postsynaptic density (GO:0097481)|nucleus (GO:0005634)|synaptic membrane (GO:0097060)|synaptic vesicle (GO:0008021)|vacuolar membrane (GO:0005774)	phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity (GO:0052629)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	19		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				CTCTTTTCCTCTCTGTTGTTC	0.368																																						ENST00000393223.3																			0				autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	19						c.(1366-1368)aGa>aCa		myotubularin related protein 2							136	131	133					11																	95571268		2201	4298	6499	SO:0001583	missense	8898					nucleus	inositol or phosphatidylinositol phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr11:95571268C>G	U58033	CCDS8305.1, CCDS8306.1	11q22	2014-09-17			ENSG00000087053	ENSG00000087053		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"	7450	protein-coding gene	gene with protein product		603557		CMT4B		8640223, 9736772	Standard	NM_016156		Approved	KIAA1073	uc001pfu.3	Q13614	OTTHUMG00000153837	ENST00000346299.5:c.1583G>C	11.37:g.95571268C>G	ENSP00000345752:p.Arg528Thr					MTMR2_ENST00000352297.7_Missense_Mutation_p.R456T|MTMR2_ENST00000409459.1_Missense_Mutation_p.R456T|MTMR2_ENST00000346299.5_Missense_Mutation_p.R528T	p.R456T	NM_001243571.1|NM_201278.2	NP_001230500.1|NP_958435.1	Q13614	MTMR2_HUMAN			15	2029	-		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)	528			Myotubularin phosphatase.		A6NN98|Q9UPS9	Missense_Mutation	SNP	ENST00000346299.5	37	c.1367G>C	CCDS8305.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.275015	0.80580	.	.	ENSG00000087053	ENST00000346299;ENST00000393223;ENST00000409459;ENST00000352297;ENST00000444541	D;D;D;D;D	0.96168	-3.93;-3.93;-3.93;-3.93;-3.93	5.52	5.52	0.82312	Myotubularin phosphatase domain (1);	0.043659	0.85682	D	0.000000	D	0.98713	0.9568	H	0.99573	4.635	0.80722	D	1	D	0.67145	0.996	D	0.68943	0.961	D	0.98908	1.0779	10	0.87932	D	0	.	12.7458	0.57280	0.0:0.9251:0.0:0.0749	.	528	Q13614	MTMR2_HUMAN	T	528;456;456;456;456	ENSP00000345752:R528T;ENSP00000376915:R456T;ENSP00000386882:R456T;ENSP00000343737:R456T;ENSP00000396020:R456T	ENSP00000345752:R528T	R	-	2	0	MTMR2	95210916	1.000000	0.71417	1.000000	0.80357	0.909000	0.53808	4.671000	0.61590	2.599000	0.87857	0.563000	0.77884	AGA		0.368	MTMR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332620.1	NM_016156		6	53	0	0	0	1	0	6	53					G	95571268	C	G	95571268	3	3	369	1	0	0	0	0	1	0	0	0	9944	913	32	5	360	5	MTMR2	11	95571268	Missense_Mutation	SNP	C	TCGA-V1-A8MG-01A-11D-A364-08	34866924	95571268	39435248	26	18393											
FAM155A	728215	broad.mit.edu	37	chr13	108518235	108518235	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	aagtgttgggactggacaacCccgagaacaactcccaaagt	14	6	10	11	1	0	1	0	0	0	1	1	4	1	3	3	2	3	1	3	2	5	1			TCGA-V1-A8MG-01A-11D-A364-08	TCGA-V1-A8MG-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c1166ce-10f5-4e3d-93b6-bfdf96fddc4e	335eea2f-41a0-419e-9da3-316bb8514aa2	g.chr13:108518235C>T	ENST00000375915.2	-	1	848	c.710G>A	c.(709-711)gGg>gAg	p.G237E		NM_001080396.2	NP_001073865.1	B1AL88	F155A_HUMAN	family with sequence similarity 155, member A	237						integral component of membrane (GO:0016021)				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						ACTGGACAACCCCGAGAACAA	0.537																																						ENST00000375915.2																			0				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						c.(709-711)gGg>gAg		family with sequence similarity 155, member A							124	121	122					13																	108518235		2203	4300	6503	SO:0001583	missense	728215					integral to membrane	binding	g.chr13:108518235C>T	L10374	CCDS32006.1	13q33.3	2008-04-15			ENSG00000204442	ENSG00000204442			33877	protein-coding gene	gene with protein product							Standard	NM_001080396		Approved		uc001vql.3	B1AL88	OTTHUMG00000017326	ENST00000375915.2:c.710G>A	13.37:g.108518235C>T	ENSP00000365080:p.Gly237Glu						p.G237E	NM_001080396.2	NP_001073865.1	B1AL88	F155A_HUMAN			1	848	-			237					B2RUV1|B7Z334	Missense_Mutation	SNP	ENST00000375915.2	37	c.710G>A	CCDS32006.1	.	.	.	.	.	.	.	.	.	.	C	19.08	3.758222	0.69763	.	.	ENSG00000204442	ENST00000375915	T	0.13089	2.62	5.9	5.03	0.67393	.	0.060839	0.64402	D	0.000005	T	0.28001	0.0690	L	0.38838	1.175	0.49915	D	0.999833	D	0.89917	1.0	D	0.79784	0.993	T	0.01413	-1.1361	10	0.48119	T	0.1	.	15.2876	0.73838	0.141:0.859:0.0:0.0	.	237	B1AL88	F155A_HUMAN	E	237	ENSP00000365080:G237E	ENSP00000365080:G237E	G	-	2	0	FAM155A	107316236	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.435000	0.80391	1.434000	0.47414	0.563000	0.77884	GGG		0.537	FAM155A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045736.2	NM_001080396		3	49	0	0	0	1	0	3	49					T	108518235	C	T	108518235	3	4	369	1	0	0	0	0	1	0	0	0	5465	623	22	3	678	3	FAM155A	13	108518235	Missense_Mutation	SNP	C	TCGA-V1-A8MG-01A-11D-A364-08		108518235	6651643	27	18394											
ZFYVE1	53349	broad.mit.edu	37	chr14	73441529	73441529	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtagcagttgtcacagacccGcactggcgcagggccccagc	8	5	13	15	2	1	1	1	0	0	1	1	1	1	1	3	2	2	5	3	2	1	2			TCGA-V1-A8MG-01A-11D-A364-08	TCGA-V1-A8MG-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c1166ce-10f5-4e3d-93b6-bfdf96fddc4e	335eea2f-41a0-419e-9da3-316bb8514aa2	g.chr14:73441529G>A	ENST00000556143.1	-	10	2665	c.1945C>T	c.(1945-1947)Cgg>Tgg	p.R649W	ZFYVE1_ENST00000554145.1_5'Flank|ZFYVE1_ENST00000553891.1_Missense_Mutation_p.R649W|ZFYVE1_ENST00000394207.2_Missense_Mutation_p.R234W|ZFYVE1_ENST00000318876.5_Missense_Mutation_p.R635W|ZFYVE1_ENST00000555072.1_Missense_Mutation_p.R234W	NM_001281735.1|NM_021260.2	NP_001268664.1|NP_067083.1	Q9HBF4	ZFYV1_HUMAN	zinc finger, FYVE domain containing 1	649					negative regulation of phosphatase activity (GO:0010923)	autophagic vacuole (GO:0005776)|endoplasmic reticulum (GO:0005783)|ER-mitochondrion membrane contact site (GO:0044233)|Golgi stack (GO:0005795)|perinuclear region of cytoplasm (GO:0048471)|pre-autophagosomal structure (GO:0000407)	1-phosphatidylinositol binding (GO:0005545)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|zinc ion binding (GO:0008270)	p.R649W(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(17)|ovary(1)|prostate(2)|skin(1)	35		all_lung(585;1.33e-09)		OV - Ovarian serous cystadenocarcinoma(108;1.6e-46)|BRCA - Breast invasive adenocarcinoma(234;0.00349)		TCACAGACCCGCACTGGCGCA	0.627																																						ENST00000556143.1																			1	Substitution - Missense(1)	p.R649W(1)	large_intestine(1)	breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(17)|ovary(1)|prostate(2)|skin(1)	35						c.(1945-1947)Cgg>Tgg		zinc finger, FYVE domain containing 1							88	85	86					14																	73441529		2203	4300	6503	SO:0001583	missense	53349					endoplasmic reticulum|Golgi stack|perinuclear region of cytoplasm	1-phosphatidylinositol binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|zinc ion binding	g.chr14:73441529G>A	AF251025	CCDS9811.1, CCDS41969.1, CCDS61498.1	14q24.2	2014-06-13	2003-02-28	2003-03-07		ENSG00000165861		"Zinc fingers, FYVE domain containing"	13180	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 172"	605471	"zinc finger protein, subfamily 2A (FYVE domain containing), 1"	ZNFN2A1		11024279, 11256955	Standard	NM_021260		Approved	DFCP1, KIAA1589, TAFF1, PPP1R172	uc001xnm.3	Q9HBF4		ENST00000556143.1:c.1945C>T	14.37:g.73441529G>A	ENSP00000450742:p.Arg649Trp					ZFYVE1_ENST00000555072.1_Missense_Mutation_p.R234W|ZFYVE1_ENST00000553891.1_Missense_Mutation_p.R649W|ZFYVE1_ENST00000394207.2_Missense_Mutation_p.R234W|ZFYVE1_ENST00000318876.5_Missense_Mutation_p.R635W	p.R649W	NM_021260.2	NP_067083.1	Q9HBF4	ZFYV1_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;1.6e-46)|BRCA - Breast invasive adenocarcinoma(234;0.00349)	10	2665	-		all_lung(585;1.33e-09)	649					J3KNL9|Q8WYX7|Q96K57|Q9BXP9|Q9HCI3	Missense_Mutation	SNP	ENST00000556143.1	37	c.1945C>T	CCDS9811.1	.	.	.	.	.	.	.	.	.	.	G	26.8	4.768501	0.90020	.	.	ENSG00000165861	ENST00000553891;ENST00000318876;ENST00000556143;ENST00000394207;ENST00000555072	D;D;D;D;D	0.81739	-1.53;-1.53;-1.53;-1.53;-1.53	6.06	4.21	0.49690	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, FYVE-type (2);Zinc finger, FYVE-related (1);Zinc finger, FYVE/PHD-type (1);	0.110994	0.64402	D	0.000011	D	0.94801	0.8321	H	0.99777	4.77	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.96781	0.9575	10	0.87932	D	0	-22.2587	15.6634	0.77206	0.0:0.0:0.749:0.251	.	649;649	G3V5N8;Q9HBF4	.;ZFYV1_HUMAN	W	649;635;649;234;234	ENSP00000452442:R649W;ENSP00000326921:R635W;ENSP00000450742:R649W;ENSP00000377757:R234W;ENSP00000452232:R234W	ENSP00000326921:R649W	R	-	1	2	ZFYVE1	72511282	1.000000	0.71417	0.995000	0.50966	0.967000	0.64934	1.588000	0.36633	0.863000	0.35553	0.650000	0.86243	CGG		0.627	ZFYVE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413172.1	NM_021260		3	45	0	0	0	1	0	3	45					A	73441529	G	A	73441529	3	1	369	1	0	0	0	0	1	0	0	0	17660	1086	38	1	400	1	ZFYVE1	14	73441529	Missense_Mutation	SNP	G	TCGA-V1-A8MG-01A-11D-A364-08		73441529	33908011	28	18395											
MYO15A	51168	broad.mit.edu	37	chr17	18053797	18053797	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgaaagggggaggccagcccGgtggaggcagcagtagtggt	9	5	20	7	1	0	1	0	1	0	0	0	3	0	3	2	7	2	3	2	7	2	1	rs530783345		TCGA-V1-A8MG-01A-11D-A364-08	TCGA-V1-A8MG-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c1166ce-10f5-4e3d-93b6-bfdf96fddc4e	335eea2f-41a0-419e-9da3-316bb8514aa2	g.chr17:18053797G>A	ENST00000205890.5	+	36	7605	c.7267G>A	c.(7267-7269)Ggt>Agt	p.G2423S	MYO15A_ENST00000418233.3_5'Flank	NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	2423	Tail.				inner ear morphogenesis (GO:0042472)|locomotory behavior (GO:0007626)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|stereocilium (GO:0032420)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					AGGCCAGCCCGGTGGAGGCAG	0.617													G|||	1	0.000199681	0	0	5008	,	,		17268	0.001		0	False		,,,				2504	0					ENST00000205890.5																			0				breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99						c.(7267-7269)Ggt>Agt		myosin XVA							63	79	74					17																	18053797		2126	4246	6372	SO:0001583	missense	51168				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity	g.chr17:18053797G>A	AF144094	CCDS42271.1	17p11.2	2011-09-27			ENSG00000091536	ENSG00000091536		"Myosins / Myosin superfamily : Class XV"	7594	protein-coding gene	gene with protein product		602666		DFNB3, MYO15		9603736	Standard	NM_016239		Approved		uc021trl.1	Q9UKN7	OTTHUMG00000059390	ENST00000205890.5:c.7267G>A	17.37:g.18053797G>A	ENSP00000205890:p.Gly2423Ser						p.G2423S	NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN			36	7605	+	all_neural(463;0.228)		2423			Tail.		B4DFC7	Missense_Mutation	SNP	ENST00000205890.5	37	c.7267G>A	CCDS42271.1	.	.	.	.	.	.	.	.	.	.	G	9.784	1.175990	0.21704	.	.	ENSG00000091536	ENST00000205890	D	0.90324	-2.65	4.67	-0.308	0.12773	.	.	.	.	.	D	0.86393	0.5922	L	0.53249	1.67	0.09310	N	1	B	0.19445	0.036	B	0.12837	0.008	T	0.73569	-0.3941	9	0.33940	T	0.23	.	10.9018	0.47056	0.2928:0.0:0.7072:0.0	.	2423	Q9UKN7	MYO15_HUMAN	S	2423	ENSP00000205890:G2423S	ENSP00000205890:G2423S	G	+	1	0	MYO15A	17994522	0.084000	0.21492	0.185000	0.23176	0.113000	0.19764	1.122000	0.31295	0.078000	0.16900	-1.810000	0.00614	GGT		0.617	MYO15A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132048.1	NM_016239		8	63	0	0	0	1	0	8	63					A	18053797	G	A	18053797	3	1	369	1	0	0	0	0	1	0	0	0	10063	1116	39	2	7401	2	MYO15A	17	18053797	Missense_Mutation	SNP	G	TCGA-V1-A8MG-01A-11D-A364-08		18053797	63141413	29	18396											
DAPK3	1613	broad.mit.edu	37	chr19	3964647	3964647	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accttcaggtcaaagtgtgcGatgcgcttagagtgcaggta	10	10	13	8	2	2	1	2	0	0	1	2	2	2	1	1	2	3	3	1	2	3	3	rs144975421		TCGA-V1-A8MG-01A-11D-A364-08	TCGA-V1-A8MG-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c1166ce-10f5-4e3d-93b6-bfdf96fddc4e	335eea2f-41a0-419e-9da3-316bb8514aa2	g.chr19:3964647G>T	ENST00000545797.2	-	3	648	c.405C>A	c.(403-405)atC>atA	p.I135I	DAPK3_ENST00000301264.3_Silent_p.I135I			O43293	DAPK3_HUMAN	death-associated protein kinase 3	135	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cellular response to interferon-gamma (GO:0071346)|chromatin modification (GO:0016568)|cytokinesis (GO:0000910)|intracellular signal transduction (GO:0035556)|negative regulation of translation (GO:0017148)|neuron differentiation (GO:0030182)|positive regulation of apoptotic process (GO:0043065)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of apoptotic process (GO:0042981)|regulation of autophagy (GO:0010506)|regulation of cell motility (GO:2000145)|regulation of focal adhesion assembly (GO:0051893)|regulation of mitosis (GO:0007088)|regulation of mitotic cell cycle (GO:0007346)|regulation of smooth muscle contraction (GO:0006940)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|PML body (GO:0016605)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|identical protein binding (GO:0042802)|leucine zipper domain binding (GO:0043522)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activity (GO:0004674)|Rho GTPase binding (GO:0017048)			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|skin(2)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)		CAAAGTGTGCGATGCGCTTAG	0.642																																						ENST00000545797.2																			0				breast(2)|central_nervous_system(3)|cervix(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|skin(2)	21						c.(403-405)atC>atA		death-associated protein kinase 3		G		0,4406		0,0,2203	108	110	110		405	-6.2	0.2	19	dbSNP_134	110	9,8591	7.1+/-27.0	0,9,4291	no	coding-synonymous	DAPK3	NM_001348.1		0,9,6494	TT,TG,GG		0.1047,0.0,0.0692		135/455	3964647	9,12997	2203	4300	6503	SO:0001819	synonymous_variant	1613				apoptosis|chromatin modification|induction of apoptosis|intracellular protein kinase cascade	cytoplasm|PML body	ATP binding|leucine zipper domain binding|protein serine/threonine kinase activity	g.chr19:3964647G>T	AB007144	CCDS12116.1	19p13.3	2008-02-05				ENSG00000167657			2676	protein-coding gene	gene with protein product		603289				9488481	Standard	XM_005259508		Approved	ZIP, ZIPK	uc002lzc.1	O43293		ENST00000545797.2:c.405C>A	19.37:g.3964647G>T						DAPK3_ENST00000301264.3_Silent_p.I135I	p.I135I			O43293	DAPK3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)	3	648	-		Hepatocellular(1079;0.137)	135			Protein kinase.		A0AVN4|B3KQE2|Q05JY4	Silent	SNP	ENST00000545797.2	37	c.405C>A	CCDS12116.1																																																																																				0.642	DAPK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457817.2	NM_001348		13	74	1	0	1.05317e-09	1	1.07766e-09	13	74					T	3964647	G	T	3964647	2	4	369	1	0	0	0	0	0	0	0	1	4237	1048	37	5		5	DAPK3	19	3964647	Silent	SNP	G	TCGA-V1-A8MG-01A-11D-A364-08		3964647	55164336	30	18397											
ZNF558	148156	broad.mit.edu	37	chr19	8931882	8931882	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggccaggttcctgcagttcTccagcatcacatccctgtac	8	10	8	15	0	2	0	1	0	1	0	5	0	4	0	4	2	3	5	4	2	1	3			TCGA-V1-A8MG-01A-11D-A364-08	TCGA-V1-A8MG-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c1166ce-10f5-4e3d-93b6-bfdf96fddc4e	335eea2f-41a0-419e-9da3-316bb8514aa2	g.chr19:8931882T>C	ENST00000601372.1	-	7	932	c.221A>G	c.(220-222)gAg>gGg	p.E74G	ZNF558_ENST00000301475.1_Missense_Mutation_p.E74G|ZNF558_ENST00000444186.2_Missense_Mutation_p.E3G|CTD-2529P6.3_ENST00000594006.1_RNA|ZNF558_ENST00000599938.1_5'Flank			Q96NG5	ZN558_HUMAN	zinc finger protein 558	74	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(7)|prostate(1)|skin(1)	15						CCTGCAGTTCTCCAGCATCAC	0.512																																						ENST00000601372.1																			0				central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(7)|prostate(1)|skin(1)	15						c.(220-222)gAg>gGg		zinc finger protein 558							144	122	129					19																	8931882		2203	4300	6503	SO:0001583	missense	148156				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr19:8931882T>C	AK055494	CCDS12208.1	19p13.2	2013-09-20			ENSG00000167785	ENSG00000167785		"Zinc fingers, C2H2-type", "-"	26422	protein-coding gene	gene with protein product							Standard	NM_144693		Approved	FLJ30932	uc002mkn.1	Q96NG5	OTTHUMG00000182196	ENST00000601372.1:c.221A>G	19.37:g.8931882T>C	ENSP00000471277:p.Glu74Gly					ZNF558_ENST00000444186.2_Missense_Mutation_p.E3G|ZNF558_ENST00000301475.1_Missense_Mutation_p.E74G	p.E74G			Q96NG5	ZN558_HUMAN			7	932	-			74			KRAB.		A8K5F0|B7Z798	Missense_Mutation	SNP	ENST00000601372.1	37	c.221A>G	CCDS12208.1	.	.	.	.	.	.	.	.	.	.	T	15.14	2.744984	0.49151	.	.	ENSG00000167785	ENST00000301475;ENST00000444186	T;T	0.04406	3.63;5.01	3.22	3.22	0.36961	Krueppel-associated box (4);	.	.	.	.	T	0.27594	0.0678	H	0.94423	3.535	0.33753	D	0.62092	D	0.69078	0.997	D	0.83275	0.996	T	0.50816	-0.8783	9	0.66056	D	0.02	.	9.7625	0.40541	0.0:0.0:0.0:1.0	.	74	Q96NG5	ZN558_HUMAN	G	74;3	ENSP00000301475:E74G;ENSP00000410703:E3G	ENSP00000301475:E74G	E	-	2	0	ZNF558	8792882	0.998000	0.40836	1.000000	0.80357	0.447000	0.32167	1.720000	0.38022	1.483000	0.48342	0.260000	0.18958	GAG		0.512	ZNF558-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459955.2	NM_144693		4	28	0	0	0	1	0	4	28					C	8931882	T	C	8931882	3	2	369	1	0	0	0	0	1	0	0	0	17986	1551	54	4	1003	4	ZNF558	19	8931882	Missense_Mutation	SNP	T	TCGA-V1-A8MG-01A-11D-A364-08	4967235	8931882	50197101	31	18398											
NCOA3	8202	broad.mit.edu	37	chr20	46279833	46279833	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atgcagcagcagcagcagcaGcaacagcagcagcagcagca	15	1	12	13	0	0	0	0	0	0	0	0	0	0	0	0	0	13	12	0	0	1	0			TCGA-V1-A8MG-01A-11D-A364-08	TCGA-V1-A8MG-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c1166ce-10f5-4e3d-93b6-bfdf96fddc4e	335eea2f-41a0-419e-9da3-316bb8514aa2	g.chr20:46279833G>A	ENST00000371998.3	+	20	3950	c.3759G>A	c.(3757-3759)caG>caA	p.Q1253Q	NCOA3_ENST00000372004.3_Silent_p.Q1249Q|NCOA3_ENST00000371997.3_Silent_p.Q1244Q|NCOA3_ENST00000341724.6_Silent_p.Q1179Q			Q9Y6Q9	NCOA3_HUMAN	nuclear receptor coactivator 3	1253	Acetyltransferase.|Poly-Gln.				androgen receptor signaling pathway (GO:0030521)|developmental growth (GO:0048589)|histone acetylation (GO:0016573)|labyrinthine layer morphogenesis (GO:0060713)|mammary gland branching involved in thelarche (GO:0060744)|multicellular organism growth (GO:0035264)|positive regulation of gene expression (GO:0010628)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|receptor transactivation (GO:0035624)|regulation of RNA biosynthetic process (GO:2001141)|transcription, DNA-templated (GO:0006351)|vagina development (GO:0060068)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|histone acetyltransferase activity (GO:0004402)|ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nuclear hormone receptor binding (GO:0035257)|protein N-terminus binding (GO:0047485)|signal transducer activity (GO:0004871)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)			breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						agcagcagcagcaacagcagc	0.547																																						ENST00000372004.3																			0				breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						c.(3745-3747)caG>caA		nuclear receptor coactivator 3							46	53	50					20																	46279833		2202	4300	6502	SO:0001819	synonymous_variant	8202				androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleoplasm	androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding	g.chr20:46279833G>A	AF012108	CCDS13406.1, CCDS13407.1, CCDS54472.1	20q12	2011-07-01			ENSG00000124151	ENSG00000124151		"Chromatin-modifying enzymes / K-acetyltransferases", "Basic helix-loop-helix proteins"	7670	protein-coding gene	gene with protein product	"receptor-associated coactivator 3", "thyroid hormone receptor activator molecule 1"	601937				9252329, 9346901	Standard	NM_181659		Approved	RAC3, AIB1, ACTR, p/CIP, TRAM-1, CAGH16, TNRC16, KAT13B, bHLHe42, SRC-3, SRC3	uc002xtk.3	Q9Y6Q9	OTTHUMG00000033061	ENST00000371998.3:c.3759G>A	20.37:g.46279833G>A						NCOA3_ENST00000371997.3_Silent_p.Q1244Q|NCOA3_ENST00000371998.3_Silent_p.Q1253Q|NCOA3_ENST00000341724.6_Silent_p.Q1179Q	p.Q1249Q	NM_001174087.1|NM_001174088.1|NM_006534.3|NM_181659.2	NP_001167558.1|NP_001167559.1|NP_006525.2|NP_858045.1	Q9Y6Q9	NCOA3_HUMAN			20	3963	+			1253		Missing.	Acetyltransferase.|Poly-Gln.		A4LAZ5|Q0VF45|Q5JYD9|Q5JYE0|Q9BR49|Q9UPC9|Q9UPG4|Q9UPG7	Silent	SNP	ENST00000371998.3	37	c.3747G>A	CCDS13407.1																																																																																				0.547	NCOA3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080405.1	NM_006534		3	23	0	0	0	1	0	3	23					A	46279833	G	A	46279833	2	1	369	1	0	0	0	0	0	0	0	1	10230	962	34	3		3	NCOA3	20	46279833	Silent	SNP	G	TCGA-V1-A8MG-01A-11D-A364-08		46279833	16745687	32	18399											
PLCXD1	55344	broad.mit.edu	37	chrX	215818	215818	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaacctgcagtacgttctggCgcacccgtccgagtccctgg	6	8	12	15	4	1	0	0	0	1	0	3	2	3	0	4	2	3	4	4	2	2	2			TCGA-V1-A8MG-01A-11D-A364-08	TCGA-V1-A8MG-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c1166ce-10f5-4e3d-93b6-bfdf96fddc4e	335eea2f-41a0-419e-9da3-316bb8514aa2	g.chrX:215818C>T	ENST00000381657.2	+	7	1302	c.788C>T	c.(787-789)gCg>gTg	p.A263V	PLCXD1_ENST00000399012.1_Missense_Mutation_p.A263V|PLCXD1_ENST00000381663.3_Missense_Mutation_p.A263V	NM_018390.3	NP_060860.1	Q9NUJ7	PLCX1_HUMAN	phosphatidylinositol-specific phospholipase C, X domain containing 1	263					lipid metabolic process (GO:0006629)		phosphoric diester hydrolase activity (GO:0008081)			endometrium(3)|large_intestine(1)|lung(7)	11		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				TACGTTCTGGCGCACCCGTCC	0.667																																						ENST00000381657.2																			0				endometrium(3)|large_intestine(1)|lung(7)	11						c.(787-789)gCg>gTg		phosphatidylinositol-specific phospholipase C, X domain containing 1		C	VAL/ALA	0,4406		0,0,2203	124	108	114		788	-0.2	0.2	X		114	1,8591		0,1,4295	no	missense	PLCXD1	NM_018390.3	64	0,1,6498	TT,TC,CC		0.0116,0.0,0.0077	benign	263/324	215818	1,12997	2203	4296	6499	SO:0001583	missense	55344				intracellular signal transduction|lipid metabolic process		phospholipase C activity	g.chrX:215818C>T	AK002185	CCDS14103.1	Xp22.33 and Yp11.32	2010-07-28			ENSG00000182378	ENSG00000182378		"Pseudoautosomal regions / PAR1"	23148	protein-coding gene	gene with protein product							Standard	NM_018390		Approved	FLJ11323	uc004cpc.3	Q9NUJ7	OTTHUMG00000022693	ENST00000381657.2:c.788C>T	X.37:g.215818C>T	ENSP00000371073:p.Ala263Val					PLCXD1_ENST00000399012.1_Missense_Mutation_p.A263V|PLCXD1_ENST00000381663.3_Missense_Mutation_p.A263V	p.A263V	NM_018390.3	NP_060860.1	Q9NUJ7	PLCX1_HUMAN			7	1302	+		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)	263					A2BH51|A2BH52	Missense_Mutation	SNP	ENST00000381657.2	37	c.788C>T	CCDS14103.1	.	.	.	.	.	.	.	.	.	.	.	5.464	0.270589	0.10349	0.0	1.16E-4	ENSG00000182378	ENST00000399012;ENST00000381657;ENST00000381663	T;T;T	0.29917	1.55;1.55;1.55	1.94	-0.148	0.13424	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);	0.926968	0.09164	N	0.839743	T	0.14743	0.0356	.	.	.	0.09310	N	1	B	0.09022	0.002	B	0.01281	0.0	T	0.35500	-0.9786	9	0.13470	T	0.59	-14.9793	6.0164	0.19605	0.0:0.5333:0.0:0.4667	.	263	Q9NUJ7	PLCX1_HUMAN	V	263	ENSP00000381976:A263V;ENSP00000371073:A263V;ENSP00000371079:A263V	ENSP00000371073:A263V	A	+	2	0	PLCXD1	155818	0.241000	0.23857	0.156000	0.22583	0.552000	0.35366	0.551000	0.23361	-0.278000	0.09180	0.414000	0.27820	GCG		0.667	PLCXD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058879.2	NM_018390		6	18	0	0	0	1	0	6	18					T	215818	C	T	215818	3	4	369	1	0	0	0	0	1	0	0	0	12041	768	27	1	810	1	PLCXD1	23	215818	Missense_Mutation	SNP	C	TCGA-V1-A8MG-01A-11D-A364-08		215818	155054742	33	18400											
TLR8	51311	broad.mit.edu	37	chrX	12937492	12937492	+	Frame_Shift_Del	DEL	A	A	-																															ggaaatcccggtatacaatcAaatggcttgaatatcacaga																								rs576185229		TCGA-V1-A8MG-01A-11D-A364-08	TCGA-V1-A8MG-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c1166ce-10f5-4e3d-93b6-bfdf96fddc4e	335eea2f-41a0-419e-9da3-316bb8514aa2	g.chrX:12937492delA	ENST00000218032.6	+	2	420	c.333delA	c.(331-333)tcafs	p.S111fs	TLR8_ENST00000311912.5_Frame_Shift_Del_p.S129fs	NM_138636.4	NP_619542.1	Q9NR97	TLR8_HUMAN	toll-like receptor 8	111					cellular response to mechanical stimulus (GO:0071260)|defense response to virus (GO:0051607)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|immunoglobulin mediated immune response (GO:0016064)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|microglial cell activation involved in immune response (GO:0002282)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of innate immune response (GO:0045089)|positive regulation of interferon-alpha biosynthetic process (GO:0045356)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|positive regulation of interleukin-8 biosynthetic process (GO:0045416)|regulation of cytokine secretion (GO:0050707)|response to virus (GO:0009615)|toll-like receptor 8 signaling pathway (GO:0034158)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	endolysosome membrane (GO:0036020)|endoplasmic reticulum membrane (GO:0005789)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|drug binding (GO:0008144)|receptor activity (GO:0004872)|RNA binding (GO:0003723)|single-stranded RNA binding (GO:0003727)			breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50					Imiquimod(DB00724)	GTATACAATCAAATGGCTTGA	0.418																																						ENST00000218032.6																			0				breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						c.(331-333)tcfs		toll-like receptor 8							127	129	128					X																	12937492		2203	4300	6503	SO:0001589	frameshift_variant	51311				cellular response to mechanical stimulus|defense response to virus|I-kappaB kinase/NF-kappaB cascade|immunoglobulin mediated immune response|inflammatory response|innate immune response|positive regulation of innate immune response|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process	endosome membrane	DNA binding|double-stranded RNA binding|single-stranded RNA binding|transmembrane receptor activity	g.chrX:12937492delA	AF246971	CCDS14152.1, CCDS14153.1	Xp22	2009-11-23			ENSG00000101916	ENSG00000101916		"CD molecules"	15632	protein-coding gene	gene with protein product		300366				11022119	Standard	NM_138636		Approved	CD288	uc004cve.3	Q9NR97	OTTHUMG00000021145	ENST00000218032.6:c.333delA	X.37:g.12937492delA	ENSP00000218032:p.Ser111fs					TLR8_ENST00000311912.5_Frame_Shift_Del_p.S129fs	p.S111fs	NM_138636.4	NP_619542.1	Q9NR97	TLR8_HUMAN			2	420	+			111					B3Y654|D1CS70|D1CS76|Q495P4|Q6UXL6|Q9NYG9	Frame_Shift_Del	DEL	ENST00000218032.6	37	c.333delA	CCDS14152.1																																																																																				0.418	TLR8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055784.2	NM_016610		22	46						22	46	---	---	---	---	-	12937492	A	-	12937492	7	5	369	1	0	1	0	1	0	0	0	0	15954	117	5	0	339	0	TLR8	23	12937492	Frame_Shift_Del	DEL	A	TCGA-V1-A8MG-01A-11D-A364-08	12721674	12937492	142333068	34	18401											
HSPG2	3339	broad.mit.edu	37	chr1	22170669	22170669	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggcagggaggtttcctccaCgcttgtgccacgtgacctgg	5	9	15	12	2	0	1	0	1	0	0	2	2	2	2	4	4	1	3	4	4	0	2			TCGA-V1-A8MJ-01A-11D-A364-08	TCGA-V1-A8MJ-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1613b958-7660-4968-b373-04b00f3f47c3	80182c4a-c41d-454a-bd5a-62ba971b8050	g.chr1:22170669C>T	ENST00000374695.3	-	65	8667	c.8588G>A	c.(8587-8589)cGt>cAt	p.R2863H		NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	2863	Ig-like C2-type 14.				angiogenesis (GO:0001525)|brain development (GO:0007420)|carbohydrate metabolic process (GO:0005975)|cardiac muscle tissue development (GO:0048738)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|chondrocyte differentiation (GO:0002062)|chondroitin sulfate metabolic process (GO:0030204)|embryonic skeletal system morphogenesis (GO:0048704)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|lipoprotein metabolic process (GO:0042157)|phototransduction, visible light (GO:0007603)|protein localization (GO:0008104)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	basal lamina (GO:0005605)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Palifermin(DB00039)	GTTTCCTCCACGCTTGTGCCA	0.642																																						ENST00000374695.3																			0				breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127						c.(8587-8589)cGt>cAt		heparan sulfate proteoglycan 2	Becaplermin(DB00102)|Palifermin(DB00039)						69	63	65					1																	22170669		2203	4300	6503	SO:0001583	missense	3339				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding	g.chr1:22170669C>T	M85289	CCDS30625.1	1p36.1-p35	2013-01-29	2007-02-16	2007-02-16	ENSG00000142798	ENSG00000142798		"Proteoglycans / Extracellular Matrix : Other", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5273	protein-coding gene	gene with protein product	"perlecan proteoglycan"	142461	"Schwartz-Jampel syndrome 1 (chondrodystrophic myotonia)"	SJS1		1685141, 11941538	Standard	XM_005245863		Approved	perlecan, PRCAN	uc001bfj.3	P98160	OTTHUMG00000002674	ENST00000374695.3:c.8588G>A	1.37:g.22170669C>T	ENSP00000363827:p.Arg2863His						p.R2863H	NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	65	8667	-		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)	2863			Ig-like C2-type 14.		Q16287|Q5SZI3|Q9H3V5	Missense_Mutation	SNP	ENST00000374695.3	37	c.8588G>A	CCDS30625.1	.	.	.	.	.	.	.	.	.	.	C	15.94	2.981001	0.53827	.	.	ENSG00000142798	ENST00000374695	T	0.15372	2.43	4.43	3.51	0.40186	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.37348	N	0.002130	T	0.30572	0.0769	L	0.58354	1.805	0.29497	N	0.855191	D;D	0.89917	1.0;1.0	D;D	0.91635	0.994;0.999	T	0.09185	-1.0686	10	0.27785	T	0.31	.	6.1222	0.20159	0.0:0.7034:0.1914:0.1052	.	803;2863	Q59EG0;P98160	.;PGBM_HUMAN	H	2863	ENSP00000363827:R2863H	ENSP00000363827:R2863H	R	-	2	0	HSPG2	22043256	0.928000	0.31464	0.973000	0.42090	0.641000	0.38312	1.719000	0.38011	0.838000	0.34948	0.462000	0.41574	CGT		0.642	HSPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007598.1	NM_005529		6	37	0	0	0	1	0	6	37					T	22170669	C	T	22170669	3	4	370	1	0	0	0	0	1	0	0	0	7430	536	19	1	4719	1	HSPG2	1	22170669	Missense_Mutation	SNP	C	TCGA-V1-A8MJ-01A-11D-A364-08		22170669	227079952	1	18402											
SYNC	81493	broad.mit.edu	37	chr1	33149934	33149934	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttctgttgctggagttgcAccccatttcttaactgcctc	5	16	7	13	0	3	0	0	0	3	0	4	1	3	1	3	1	4	4	3	1	1	5			TCGA-V1-A8MJ-01A-11D-A364-08	TCGA-V1-A8MJ-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1613b958-7660-4968-b373-04b00f3f47c3	80182c4a-c41d-454a-bd5a-62ba971b8050	g.chr1:33149934A>G	ENST00000409190.3	-	3	1741	c.1283T>C	c.(1282-1284)gTg>gCg	p.V428A	RBBP4_ENST00000373493.5_3'UTR|SYNC_ENST00000373484.3_Missense_Mutation_p.V428A	NM_030786.2	NP_110413	Q9H7C4	SYNCI_HUMAN	syncoilin, intermediate filament protein	428	Coil 2.				intermediate filament-based process (GO:0045103)	cytosol (GO:0005829)|intermediate filament (GO:0005882)|neuromuscular junction (GO:0031594)|sarcolemma (GO:0042383)|Z disc (GO:0030018)	structural molecule activity (GO:0005198)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	12						CTGGAGTTGCACCCCATTTCT	0.433																																						ENST00000373484.3																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	12						c.(1282-1284)gTg>gCg		syncoilin, intermediate filament protein							206	183	191					1																	33149934		2203	4300	6503	SO:0001583	missense	81493					intermediate filament|perinuclear region of cytoplasm	structural molecule activity	g.chr1:33149934A>G	AK024707	CCDS367.2, CCDS53294.1	1p35.1	2013-01-16	2008-09-19	2008-09-19	ENSG00000162520	ENSG00000162520		"Intermediate filaments type III"	28897	protein-coding gene	gene with protein product		611750	"syncoilin, intermediate filament 1"	SYNC1		11053421	Standard	NM_030786		Approved	SYNCOILIN	uc001bvt.2	Q9H7C4	OTTHUMG00000008087	ENST00000409190.3:c.1283T>C	1.37:g.33149934A>G	ENSP00000386439:p.Val428Ala					RBBP4_ENST00000373493.5_3'UTR|SYNC_ENST00000409190.3_Missense_Mutation_p.V428A	p.V428A	NM_001161708.1	NP_001155180.1	Q9H7C4	SYNCI_HUMAN			3	1382	-			428			Coil 2.		B4DNK8|B4DY58|C9IY41	Missense_Mutation	SNP	ENST00000409190.3	37	c.1283T>C	CCDS367.2	.	.	.	.	.	.	.	.	.	.	A	23.3	4.400325	0.83120	.	.	ENSG00000162520	ENST00000373484;ENST00000409190	D;D	0.88741	-2.42;-2.42	5.56	5.56	0.83823	Filament (1);	0.091894	0.46145	D	0.000311	D	0.89462	0.6722	N	0.14661	0.345	0.40745	D	0.98286	D;D	0.89917	1.0;0.999	D;D	0.83275	0.996;0.994	D	0.91867	0.5504	10	0.87932	D	0	-15.3955	15.2049	0.73173	1.0:0.0:0.0:0.0	.	428;428	Q9H7C4-2;Q9H7C4	.;SYNCI_HUMAN	A	428	ENSP00000362583:V428A;ENSP00000386439:V428A	ENSP00000362583:V428A	V	-	2	0	SYNC	32922521	1.000000	0.71417	0.997000	0.53966	0.983000	0.72400	6.189000	0.72051	2.257000	0.74773	0.459000	0.35465	GTG		0.433	SYNC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022129.3	NM_030786		6	81	0	0	0	1	0	6	81					G	33149934	A	G	33149934	3	3	370	1	0	0	0	0	1	0	0	0	15440	159	6	4	239	4	SYNC	1	33149934	Missense_Mutation	SNP	A	TCGA-V1-A8MJ-01A-11D-A364-08	10979265	33149934	216100687	2	18403											
TOR3A	64222	broad.mit.edu	37	chr1	179064325	179064325	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ccagggctgcaagtctatttCccagaggattaactacttcc	10	11	8	12	0	1	1	0	0	1	1	3	2	3	2	3	2	3	2	3	2	4	5			TCGA-V1-A8MJ-01A-11D-A364-08	TCGA-V1-A8MJ-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1613b958-7660-4968-b373-04b00f3f47c3	80182c4a-c41d-454a-bd5a-62ba971b8050	g.chr1:179064325C>T	ENST00000367627.3	+	6	1918	c.1166C>T	c.(1165-1167)tCc>tTc	p.S389F	TOR3A_ENST00000352445.6_Intron	NM_022371.3	NP_071766.2	Q9H497	TOR3A_HUMAN	torsin family 3, member A	389					ATP catabolic process (GO:0006200)|chaperone mediated protein folding requiring cofactor (GO:0051085)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|pancreas(1)|urinary_tract(1)	13						AAGTCTATTTCCCAGAGGATT	0.493																																						ENST00000367627.3																			0				endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|pancreas(1)|urinary_tract(1)	13						c.(1165-1167)tCc>tTc		torsin family 3, member A							158	165	163					1																	179064325		2203	4300	6503	SO:0001583	missense	64222				chaperone mediated protein folding requiring cofactor	endoplasmic reticulum	ATP binding	g.chr1:179064325C>T	BC001085	CCDS1329.1	1q25.2	2008-02-05	2003-04-02		ENSG00000186283	ENSG00000186283			11997	protein-coding gene	gene with protein product		607555	"ATP-dependant interferon responsive"	ADIR		10644435	Standard	NM_022371		Approved	FLJ22345, ADIR2	uc001gmd.3	Q9H497	OTTHUMG00000035077	ENST00000367627.3:c.1166C>T	1.37:g.179064325C>T	ENSP00000356599:p.Ser389Phe					TOR3A_ENST00000352445.6_Intron	p.S389F	NM_022371.3	NP_071766.2	Q9H497	TOR3A_HUMAN			6	1918	+			389					B4DSY0|B7ZB65|Q5M7Y7|Q8WVA7|Q8WWM2|Q9H495|Q9H6E7	Missense_Mutation	SNP	ENST00000367627.3	37	c.1166C>T	CCDS1329.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.052770	0.75960	.	.	ENSG00000186283	ENST00000367627	T	0.61742	0.08	5.91	5.91	0.95273	.	0.352416	0.34362	N	0.004024	T	0.75265	0.3826	M	0.76838	2.35	0.80722	D	1	D	0.67145	0.996	P	0.61328	0.887	T	0.73442	-0.3981	10	0.39692	T	0.17	-23.5423	19.2867	0.94077	0.0:1.0:0.0:0.0	.	389	Q9H497	TOR3A_HUMAN	F	389	ENSP00000356599:S389F	ENSP00000356599:S389F	S	+	2	0	TOR3A	177330948	0.961000	0.32948	0.989000	0.46669	0.972000	0.66771	7.456000	0.80751	2.793000	0.96121	0.655000	0.94253	TCC		0.493	TOR3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084927.1	NM_022371		8	131	0	0	0	1	0	8	131					T	179064325	C	T	179064325	3	4	370	1	0	0	0	0	1	0	0	0	16373	855	30	3	1188	3	TOR3A	1	179064325	Missense_Mutation	SNP	C	TCGA-V1-A8MJ-01A-11D-A364-08	145914391	179064325	70186296	3	18404											
DISC1	27185	broad.mit.edu	37	chr1	231906802	231906802	+	Frame_Shift_Del	DEL	G	G	-																															cccttccatgcagagccaccGgaaaccataaggaggtactg																								rs148583596		TCGA-V1-A8MJ-01A-11D-A364-08	TCGA-V1-A8MJ-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1613b958-7660-4968-b373-04b00f3f47c3	80182c4a-c41d-454a-bd5a-62ba971b8050	g.chr1:231906802delG	ENST00000602281.1	+	6	1673	c.1620delG	c.(1618-1620)ccgfs	p.P540fs	DISC1_ENST00000439617.2_Frame_Shift_Del_p.P540fs|DISC1_ENST00000539444.1_Frame_Shift_Del_p.P540fs|DISC1_ENST00000602873.1_Frame_Shift_Del_p.P190fs|DISC1_ENST00000366633.3_Frame_Shift_Del_p.P540fs|DISC1_ENST00000535983.1_Frame_Shift_Del_p.P540fs|DISC1_ENST00000366637.3_5'UTR|DISC1_ENST00000537876.1_Frame_Shift_Del_p.P540fs|TSNAX-DISC1_ENST00000602962.1_3'UTR|DISC1_ENST00000366636.4_Frame_Shift_Del_p.P540fs	NM_001164542.1|NM_001164544.1	NP_001158014.1|NP_001158016.1	Q9NRI5	DISC1_HUMAN	disrupted in schizophrenia 1	540	Interaction with TRAF3IP1.|Necessary and sufficient for interaction with PCNT and localization at the centrosome.|Required for localization to punctate cytoplasmic foci.				canonical Wnt signaling pathway (GO:0060070)|cell proliferation in forebrain (GO:0021846)|cellular protein localization (GO:0034613)|cerebral cortex radially oriented cell migration (GO:0021799)|microtubule cytoskeleton organization (GO:0000226)|mitochondrial calcium ion homeostasis (GO:0051560)|neuron migration (GO:0001764)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of neuron projection development (GO:0010975)|regulation of synapse maturation (GO:0090128)|TOR signaling (GO:0031929)	cell junction (GO:0030054)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|postsynaptic membrane (GO:0045211)				breast(1)|cervix(1)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	15		all_cancers(173;0.0208)|Prostate(94;0.0975)				CAGAGCCACCGGAAACCATAA	0.537																																						ENST00000439617.2																			0				breast(1)|cervix(1)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	15						c.(1618-1620)ccfs		disrupted in schizophrenia 1							38	29	32					1																	231906802		2202	4300	6502	SO:0001589	frameshift_variant	27185				microtubule cytoskeleton organization|neuron migration|positive regulation of neuroblast proliferation|positive regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway	centrosome|microtubule	protein binding	g.chr1:231906802delG	AF222980	CCDS31055.1, CCDS31056.1, CCDS53482.1, CCDS53483.1, CCDS53484.1, CCDS59205.1, CCDS59206.1, CCDS59207.1	1q42.1	2008-02-05			ENSG00000162946	ENSG00000162946			2888	protein-coding gene	gene with protein product		605210				10814723	Standard	NM_001164550		Approved		uc010pxh.2	Q9NRI5	OTTHUMG00000037835	ENST00000602281.1:c.1620delG	1.37:g.231906802delG	ENSP00000473425:p.Pro540fs					DISC1_ENST00000537876.1_Frame_Shift_Del_p.P540fs|DISC1_ENST00000539444.1_Frame_Shift_Del_p.P540fs|DISC1_ENST00000602873.1_Frame_Shift_Del_p.P190fs|DISC1_ENST00000366637.3_5'UTR|DISC1_ENST00000535983.1_Frame_Shift_Del_p.P540fs|TRAX_ENST00000602962.1_3'UTR|DISC1_ENST00000602281.1_Frame_Shift_Del_p.P540fs|DISC1_ENST00000366636.4_Frame_Shift_Del_p.P540fs|DISC1_ENST00000366633.3_Frame_Shift_Del_p.P540fs	p.P540fs	NM_001164537.1|NM_001164540.1|NM_018662.2	NP_001158009.1|NP_001158012.1|NP_061132.2	Q9NRI5	DISC1_HUMAN			6	1673	+		all_cancers(173;0.0208)|Prostate(94;0.0975)	540			Interaction with TRAF3IP1.|Necessary and sufficient for interaction with PCNT and localization at the centrosome.|Required for localization to punctate cytoplasmic foci.		A6NLH2|C4P091|C4P095|C4P0A1|C4P0A3|C4P0B3|C4P0B6|C4P0C1|C9J6D0|O75045|Q5VT44|Q5VT45|Q8IXJ0|Q8IXJ1|Q9BX19|Q9NRI3|Q9NRI4	Frame_Shift_Del	DEL	ENST00000602281.1	37	c.1620delG	CCDS59205.1																																																																																				0.537	DISC1-019	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000467451.1	NM_018662		2	4						2	4	---	---	---	---	-	231906802	G	-	231906802	7	5	370	1	0	1	0	1	0	0	0	0	4538	1103	39	0	2005	0	DISC1	1	231906802	Frame_Shift_Del	DEL	G	TCGA-V1-A8MJ-01A-11D-A364-08	52842477	231906802	17343819	4	18405											
SP3	6670	broad.mit.edu	37	chr2	174820690	174820690	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gcctgtgaaaccaatttgaaCctgctgaccatctgctgact	10	11	8	12	0	1	4	0	4	1	0	1	4	1	4	4	0	4	2	4	0	3	1			TCGA-V1-A8MJ-01A-11D-A364-08	TCGA-V1-A8MJ-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1613b958-7660-4968-b373-04b00f3f47c3	80182c4a-c41d-454a-bd5a-62ba971b8050	g.chr2:174820690C>A	ENST00000310015.6	-	4	1080	c.550G>T	c.(550-552)Gtt>Ttt	p.V184F	SP3_ENST00000483084.1_5'Flank|SP3_ENST00000418194.2_Missense_Mutation_p.V116F|SP3_ENST00000455789.2_Missense_Mutation_p.V131F	NM_001172712.1|NM_003111.4	NP_001166183.1|NP_003102.1	Q02447	SP3_HUMAN	Sp3 transcription factor	184	Transactivation domain (Gln-rich).				B cell differentiation (GO:0030183)|definitive hemopoiesis (GO:0060216)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic placenta development (GO:0001892)|embryonic process involved in female pregnancy (GO:0060136)|embryonic skeletal system development (GO:0048706)|enucleate erythrocyte differentiation (GO:0043353)|granulocyte differentiation (GO:0030851)|liver development (GO:0001889)|lung development (GO:0030324)|megakaryocyte differentiation (GO:0030219)|monocyte differentiation (GO:0030224)|natural killer cell differentiation (GO:0001779)|negative regulation of transcription, DNA-templated (GO:0045892)|ossification (GO:0001503)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|T cell differentiation (GO:0030217)|trophectodermal cell differentiation (GO:0001829)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|double-stranded DNA binding (GO:0003690)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)		EWSR1/SP3(3)	NS(2)|large_intestine(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	9			OV - Ovarian serous cystadenocarcinoma(117;0.185)			CCAATTTGAACCTGCTGACCA	0.413																																						ENST00000310015.6																		EWSR1/SP3(3)	0				NS(2)|large_intestine(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	9						c.(550-552)Gtt>Ttt		Sp3 transcription factor							240	243	242					2																	174820690		2203	4300	6503	SO:0001583	missense	6670				negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	PML body	protein binding|zinc ion binding	g.chr2:174820690C>A	M97191	CCDS2254.1, CCDS46452.1	2q31	2013-01-08			ENSG00000172845	ENSG00000172845		"Specificity protein transcription factors", "Zinc fingers, C2H2-type"	11208	protein-coding gene	gene with protein product		601804				1341900, 1454515	Standard	NM_003111		Approved	SPR-2	uc002uig.3	Q02447	OTTHUMG00000132333	ENST00000310015.6:c.550G>T	2.37:g.174820690C>A	ENSP00000310301:p.Val184Phe					SP3_ENST00000418194.2_Missense_Mutation_p.V116F|SP3_ENST00000455789.2_Missense_Mutation_p.V131F	p.V184F	NM_001172712.1|NM_003111.4	NP_001166183.1|NP_003102.1	Q02447	SP3_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.185)		4	1080	-			184			Transactivation domain (Gln-rich).		A0AVL9|B4E2B7|Q69B26|Q69B27|Q8TD56|Q8WWU4|Q9BQR1	Missense_Mutation	SNP	ENST00000310015.6	37	c.550G>T	CCDS2254.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.68|15.68	2.903941|2.903941	0.52333|0.52333	.|.	.|.	ENSG00000172845|ENSG00000172845	ENST00000416195|ENST00000310015;ENST00000455789;ENST00000418194	.|T;T;T	.|0.05996	.|3.37;3.36;3.36	5.95|5.95	5.95|5.95	0.96441|0.96441	.|.	.|0.000000	.|0.64402	.|D	.|0.000003	T|T	0.09949|0.09949	0.0244|0.0244	L|L	0.43152|0.43152	1.355|1.355	0.46798|0.46798	D|D	0.999207|0.999207	.|B;B;B	.|0.15719	.|0.014;0.014;0.012	.|B;B;B	.|0.10450	.|0.004;0.004;0.005	T|T	0.09207|0.09207	-1.0685|-1.0685	5|10	.|0.87932	.|D	.|0	.|.	20.3748|20.3748	0.98911|0.98911	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|181;184;131	.|B7ZLN9;Q02447;Q02447-6	.|.;SP3_HUMAN;.	S|F	140|184;131;116	.|ENSP00000310301:V184F;ENSP00000388903:V131F;ENSP00000406140:V116F	.|ENSP00000310301:V184F	R|V	-|-	3|1	2|0	SP3|SP3	174528936|174528936	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	4.955000|4.955000	0.63638|0.63638	2.817000|2.817000	0.96982|0.96982	0.563000|0.563000	0.77884|0.77884	AGG|GTT		0.413	SP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255452.1	NM_003111		29	159	1	0	8.16721e-17	1	9.2325e-17	29	159					A	174820690	C	A	174820690	3	1	370	1	0	0	0	0	1	0	0	0	14965	507	18	5	1811	5	SP3	2	174820690	Missense_Mutation	SNP	C	TCGA-V1-A8MJ-01A-11D-A364-08		174820690	68378683	5	18406											
TTN	7273	broad.mit.edu	37	chr2	179403722	179403722	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gaagcagggctggtctcactCaggccaacatcattctgtgc	9	9	11	12	0	4	0	3	0	2	0	5	1	4	0	1	3	3	2	1	3	2	1	rs371041107		TCGA-V1-A8MJ-01A-11D-A364-08	TCGA-V1-A8MJ-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1613b958-7660-4968-b373-04b00f3f47c3	80182c4a-c41d-454a-bd5a-62ba971b8050	g.chr2:179403722C>T	ENST00000591111.1	-	303	94241	c.94017G>A	c.(94015-94017)ctG>ctA	p.L31339L	TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN_ENST00000342992.6_Silent_p.L30412L|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN_ENST00000460472.2_Silent_p.L23915L|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Silent_p.L24040L|TTN-AS1_ENST00000415561.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Silent_p.L24107L|TTN-AS1_ENST00000590807.1_RNA|RP11-65L3.4_ENST00000604692.1_RNA|TTN_ENST00000589042.1_Silent_p.L32980L|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000590932.1_RNA			Q8WZ42	TITIN_HUMAN	titin	31339	Fibronectin type-III 128. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGGTCTCACTCAGGCCAACAT	0.458																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(98938-98940)ctG>ctA		titin		C	,,,	0,4124		0,0,2062	159	157	158		71745,91236,72120,72321	-12.1	0.1	2		158	1,8391		0,1,4195	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	TTN	NM_003319.4,NM_133378.4,NM_133432.3,NM_133437.3	,,,	0,1,6257	TT,TC,CC		0.0119,0.0,0.0080	,,,	23915/26927,30412/33424,24040/27052,24107/27119	179403722	1,12515	2062	4196	6258	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179403722C>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.94017G>A	2.37:g.179403722C>T						TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000591111.1_Silent_p.L31339L|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN_ENST00000342992.6_Silent_p.L30412L|TTN_ENST00000460472.2_Silent_p.L23915L|TTN_ENST00000359218.5_Silent_p.L24040L|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Silent_p.L24107L	p.L32980L	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		353	99164	-			31339					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	ENST00000591111.1	37	c.98940G>A																																																																																					0.458	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		7	31	0	0	0	1	0	7	31					T	179403722	C	T	179403722	2	4	370	1	0	0	0	0	0	0	0	1	16732	813	29	3		3	TTN	2	179403722	Silent	SNP	C	TCGA-V1-A8MJ-01A-11D-A364-08	4583032	179403722	63795651	6	18407											
C4orf19	55286	broad.mit.edu	37	chr4	37591911	37591911	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gatccatgggagccctgctgGcctcaccaagggccgctccc	6	6	12	17	1	1	0	1	0	0	0	3	2	3	1	6	3	2	2	6	3	1	0			TCGA-V1-A8MJ-01A-11D-A364-08	TCGA-V1-A8MJ-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1613b958-7660-4968-b373-04b00f3f47c3	80182c4a-c41d-454a-bd5a-62ba971b8050	g.chr4:37591911G>C	ENST00000284437.6	+	3	412	c.234G>C	c.(232-234)tgG>tgC	p.W78C	RP11-36B15.1_ENST00000503034.1_RNA|C4orf19_ENST00000381980.4_Missense_Mutation_p.W78C|C4orf19_ENST00000508175.1_Intron	NM_018302.2	NP_060772.2	Q8IY42	CD019_HUMAN	chromosome 4 open reading frame 19	78										large_intestine(1)|lung(3)|skin(3)|stomach(1)|urinary_tract(1)	9						AGCCCTGCTGGCCTCACCAAG	0.627																																						ENST00000284437.6																			0				large_intestine(1)|lung(3)|skin(3)|stomach(1)|urinary_tract(1)	9						c.(232-234)tgG>tgC		chromosome 4 open reading frame 19							53	58	56					4																	37591911		2203	4300	6503	SO:0001583	missense	55286							g.chr4:37591911G>C	BC037906	CCDS3442.1	4p14	2008-02-05			ENSG00000154274	ENSG00000154274			25618	protein-coding gene	gene with protein product						12477932	Standard	NM_001104629		Approved	FLJ11017	uc003gsw.4	Q8IY42	OTTHUMG00000128580	ENST00000284437.6:c.234G>C	4.37:g.37591911G>C	ENSP00000284437:p.Trp78Cys					C4orf19_ENST00000508175.1_Intron|C4orf19_ENST00000381980.4_Missense_Mutation_p.W78C	p.W78C	NM_018302.2	NP_060772.2	Q8IY42	CD019_HUMAN			3	412	+			78					Q9NV03	Missense_Mutation	SNP	ENST00000284437.6	37	c.234G>C	CCDS3442.1	.	.	.	.	.	.	.	.	.	.	G	12.05	1.821477	0.32237	.	.	ENSG00000154274	ENST00000381980;ENST00000284437	T;T	0.32753	1.44;1.44	4.29	3.42	0.39159	.	0.974920	0.08400	N	0.951617	T	0.38054	0.1026	L	0.34521	1.04	0.09310	N	0.999996	D	0.69078	0.997	P	0.60473	0.875	T	0.17349	-1.0372	10	0.34782	T	0.22	1.0683	7.1644	0.25683	0.0922:0.1746:0.7332:0.0	.	78	Q8IY42	CD019_HUMAN	C	78	ENSP00000371408:W78C;ENSP00000284437:W78C	ENSP00000284437:W78C	W	+	3	0	C4orf19	37268306	0.084000	0.21492	0.008000	0.14137	0.027000	0.11550	0.968000	0.29357	0.975000	0.38392	0.655000	0.94253	TGG		0.627	C4orf19-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250432.1	NM_018302		6	27	0	0	0	1	0	6	27					C	37591911	G	C	37591911	3	2	370	1	0	0	0	0	1	0	0	0	2253	1212	42	5	240	5	C4orf19	4	37591911	Missense_Mutation	SNP	G	TCGA-V1-A8MJ-01A-11D-A364-08		37591911	153562365	7	18408											
EMCN	51705	broad.mit.edu	37	chr4	101344519	101344519	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	taactggtattgaggttaatGtaccagttttagaaggtgat	12	15	11	3	0	0	3	0	2	0	1	0	3	0	3	1	3	2	4	1	3	6	7			TCGA-V1-A8MJ-01A-11D-A364-08	TCGA-V1-A8MJ-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1613b958-7660-4968-b373-04b00f3f47c3	80182c4a-c41d-454a-bd5a-62ba971b8050	g.chr4:101344519G>C	ENST00000296420.4	-	6	636	c.458C>G	c.(457-459)aCa>aGa	p.T153R	EMCN_ENST00000305864.3_Intron|EMCN_ENST00000511970.1_Missense_Mutation_p.T140R	NM_001159694.1|NM_016242.3	NP_001153166.1|NP_057326.2	Q9ULC0	MUCEN_HUMAN	endomucin	153						extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(1)	13				OV - Ovarian serous cystadenocarcinoma(123;2.49e-08)		TGAGGTTAATGTACCAGTTTT	0.398																																						ENST00000296420.4																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(1)	13						c.(457-459)aCa>aGa		endomucin							220	204	210					4																	101344519		2203	4300	6503	SO:0001583	missense	51705					extracellular region|integral to membrane|plasma membrane		g.chr4:101344519G>C	AF205940	CCDS3655.1, CCDS54782.1	4q22.1	2008-02-05			ENSG00000164035	ENSG00000164035		"Mucins"	16041	protein-coding gene	gene with protein product		608350				11418125, 11594763	Standard	NM_016242		Approved	MUC14	uc003hvr.3	Q9ULC0	OTTHUMG00000131051	ENST00000296420.4:c.458C>G	4.37:g.101344519G>C	ENSP00000296420:p.Thr153Arg					EMCN_ENST00000511970.1_Missense_Mutation_p.T140R|EMCN_ENST00000305864.3_Intron	p.T153R	NM_001159694.1|NM_016242.3	NP_001153166.1|NP_057326.2	Q9ULC0	MUCEN_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;2.49e-08)	6	636	-			153					A8K716|B4E347|Q8NEY5|Q8WWE7|Q9NRM8	Missense_Mutation	SNP	ENST00000296420.4	37	c.458C>G	CCDS3655.1	.	.	.	.	.	.	.	.	.	.	G	8.097	0.775903	0.16051	.	.	ENSG00000164035	ENST00000296420;ENST00000511970	.	.	.	3.52	-4.74	0.03249	.	1.895830	0.03042	N	0.153498	T	0.19525	0.0469	N	0.19112	0.55	0.09310	N	1	P;P	0.46952	0.887;0.887	B;B	0.42738	0.396;0.396	T	0.20638	-1.0269	9	0.59425	D	0.04	4.2992	4.3433	0.11120	0.5182:0.0:0.205:0.2768	.	140;153	B4E347;Q9ULC0	.;MUCEN_HUMAN	R	153;140	.	ENSP00000296420:T153R	T	-	2	0	EMCN	101563542	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-1.381000	0.02549	-1.315000	0.02297	0.484000	0.47621	ACA		0.398	EMCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253699.2	NM_016242		5	41	0	0	0	1	0	5	41					C	101344519	G	C	101344519	3	2	370	1	0	0	0	0	1	0	0	0	5086	1377	48	5	351	5	EMCN	4	101344519	Missense_Mutation	SNP	G	TCGA-V1-A8MJ-01A-11D-A364-08	63752608	101344519	89809757	8	18409											
FAT4	79633	broad.mit.edu	37	chr4	126411435	126411435	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	aaagctggaagtcctgcgggGcatgtctgtgttctgagtca	8	11	14	8	1	3	1	1	1	2	0	4	2	4	2	1	3	2	3	1	3	2	1			TCGA-V1-A8MJ-01A-11D-A364-08	TCGA-V1-A8MJ-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1613b958-7660-4968-b373-04b00f3f47c3	80182c4a-c41d-454a-bd5a-62ba971b8050	g.chr4:126411435G>C	ENST00000394329.3	+	17	13471	c.13458G>C	c.(13456-13458)ggG>ggC	p.G4486G	FAT4_ENST00000335110.5_Silent_p.G2727G	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	4486					branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.G4429G(1)|p.G4486G(1)		NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						GTCCTGCGGGGCATGTCTGTG	0.622																																						ENST00000394329.3																			2	Substitution - coding silent(2)	p.G4429G(1)|p.G4486G(1)	lung(2)	NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						c.(13456-13458)ggG>ggC		FAT atypical cadherin 4							88	86	87					4																	126411435		2203	4300	6503	SO:0001819	synonymous_variant	79633				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:126411435G>C	AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"Cadherins / Cadherin-related"	23109	protein-coding gene	gene with protein product	"cadherin-related family member 11"	612411	"FAT tumor suppressor homolog 4 (Drosophila)"			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.13458G>C	4.37:g.126411435G>C						FAT4_ENST00000335110.5_Silent_p.G2727G	p.G4486G	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN			17	13471	+			4486					A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Silent	SNP	ENST00000394329.3	37	c.13458G>C	CCDS3732.3																																																																																				0.622	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582		7	43	0	0	0	1	0	7	43					C	126411435	G	C	126411435	2	2	370	1	0	0	0	0	0	0	0	1	5692	1190	42	5		5	FAT4	4	126411435	Silent	SNP	G	TCGA-V1-A8MJ-01A-11D-A364-08	25066916	126411435	64742841	9	18410											
TULP1	7287	broad.mit.edu	37	chr6	35471404	35471404	+	Frame_Shift_Del	DEL	G	G	-																															aatgatgacggtcatgcgccGggggccacggaagcccagca																										TCGA-V1-A8MJ-01A-11D-A364-08	TCGA-V1-A8MJ-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1613b958-7660-4968-b373-04b00f3f47c3	80182c4a-c41d-454a-bd5a-62ba971b8050	g.chr6:35471404delG	ENST00000229771.6	-	13	1334	c.1255delC	c.(1255-1257)cggfs	p.R420fs	TULP1_ENST00000322263.4_Frame_Shift_Del_p.R367fs	NM_003322.3	NP_003313.3	O00294	TULP1_HUMAN	tubby like protein 1	420			R -> P (in RP14; no effect on RPE phagocytosis). {ECO:0000269|PubMed:9462750}.		dendrite development (GO:0016358)|detection of light stimulus involved in visual perception (GO:0050908)|eye photoreceptor cell development (GO:0042462)|phagocytosis (GO:0006909)|photoreceptor cell maintenance (GO:0045494)|phototransduction (GO:0007602)|positive regulation of phagocytosis (GO:0050766)|retina development in camera-type eye (GO:0060041)|retina homeostasis (GO:0001895)|visual perception (GO:0007601)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|synapse (GO:0045202)	actin filament binding (GO:0051015)|G-protein coupled photoreceptor activity (GO:0008020)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)	p.R419W(1)		central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	19						GTCATGCGCCGGGGGCCACGG	0.662																																					GBM(55;1027 1091 11115 23439)	ENST00000229771.6																			1	Substitution - Missense(1)	p.R419W(1)	kidney(1)	central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	19						c.(1255-1257)ggfs		tubby like protein 1							21	22	22					6																	35471404		2201	4298	6499	SO:0001589	frameshift_variant	7287				dendrite development|eye photoreceptor cell development|phagocytosis|photoreceptor cell maintenance|positive regulation of phagocytosis	cell junction|cytoplasm|extracellular region|photoreceptor inner segment|photoreceptor outer segment|synapse	actin filament binding|phosphatidylinositol-4,5-bisphosphate binding	g.chr6:35471404delG	U82468	CCDS4807.1, CCDS75436.1	6p21.3	2014-01-28			ENSG00000112041	ENSG00000112041			12423	protein-coding gene	gene with protein product		602280		RP14		9096357, 9521870	Standard	NM_003322		Approved	TUBL1, LCA15	uc003okv.4	O00294	OTTHUMG00000014575	ENST00000229771.6:c.1255delC	6.37:g.35471404delG	ENSP00000229771:p.Arg420fs					TULP1_ENST00000322263.4_Frame_Shift_Del_p.R367fs	p.R420fs	NM_003322.3	NP_003313.3	O00294	TULP1_HUMAN			13	1334	-			420		R -> P (in RP14; no effect on RPE phagocytosis).			O43536|Q5TGM5|Q8N571	Frame_Shift_Del	DEL	ENST00000229771.6	37	c.1255delC	CCDS4807.1																																																																																				0.662	TULP1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040307.2			2	4						2	4	---	---	---	---	-	35471404	G	-	35471404	7	5	370	1	0	1	0	1	0	0	0	0	16770	1115	39	0	385	0	TULP1	6	35471404	Frame_Shift_Del	DEL	G	TCGA-V1-A8MJ-01A-11D-A364-08		35471404	135643663	10	18411											
PGC	5225	broad.mit.edu	37	chr6	41710082	41710082	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gggcgccctcctgcaccatgCcctgcatagctgtggtggcc	4	8	13	16	1	0	0	0	0	0	0	1	0	1	0	5	3	4	3	5	3	1	1			TCGA-V1-A8MJ-01A-11D-A364-08	TCGA-V1-A8MJ-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1613b958-7660-4968-b373-04b00f3f47c3	80182c4a-c41d-454a-bd5a-62ba971b8050	g.chr6:41710082C>T	ENST00000373025.3	-	5	655	c.593G>A	c.(592-594)gGc>gAc	p.G198D	PGC_ENST00000425343.2_Missense_Mutation_p.G198D	NM_002630.3	NP_002621.1	P20142	PEPC_HUMAN	progastricsin (pepsinogen C)	198					digestion (GO:0007586)|proteolysis (GO:0006508)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	aspartic-type endopeptidase activity (GO:0004190)			endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|skin(1)	16	Ovarian(28;0.0355)|Colorectal(47;0.121)		Epithelial(12;0.000132)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00507)			CTGCACCATGCCCTGCATAGC	0.627																																						ENST00000373025.3																			0				endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|skin(1)	16						c.(592-594)gGc>gAc		progastricsin (pepsinogen C)							111	86	94					6																	41710082		2203	4300	6503	SO:0001583	missense	5225				digestion|proteolysis	extracellular space	aspartic-type endopeptidase activity	g.chr6:41710082C>T		CCDS4859.1, CCDS55000.1	6p21.1	2012-10-02			ENSG00000096088	ENSG00000096088	3.4.23.3		8890	protein-coding gene	gene with protein product		169740					Standard	NM_002630		Approved		uc003ora.2	P20142	OTTHUMG00000014683	ENST00000373025.3:c.593G>A	6.37:g.41710082C>T	ENSP00000362116:p.Gly198Asp					PGC_ENST00000425343.2_Missense_Mutation_p.G198D	p.G198D	NM_002630.3	NP_002621.1	P20142	PEPC_HUMAN	Epithelial(12;0.000132)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00507)		5	655	-	Ovarian(28;0.0355)|Colorectal(47;0.121)		198					B4DVZ3|Q5T3D7|Q5T3D8	Missense_Mutation	SNP	ENST00000373025.3	37	c.593G>A	CCDS4859.1	.	.	.	.	.	.	.	.	.	.	C	11.50	1.657371	0.29425	.	.	ENSG00000096088	ENST00000373025;ENST00000424183;ENST00000356667;ENST00000425343	T;T;T	0.56941	0.43;0.43;0.43	4.42	2.63	0.31362	Peptidase aspartic (1);Peptidase aspartic, catalytic (1);	0.490829	0.21463	N	0.074139	T	0.55321	0.1913	M	0.73598	2.24	0.32597	N	0.526407	D	0.62365	0.991	D	0.65443	0.935	T	0.57728	-0.7761	10	0.59425	D	0.04	.	8.9706	0.35903	0.0:0.7466:0.0:0.2533	.	198	P20142	PEPC_HUMAN	D	198;119;119;198	ENSP00000362116:G198D;ENSP00000349094:G119D;ENSP00000405094:G198D	ENSP00000349094:G119D	G	-	2	0	PGC	41818060	0.987000	0.35691	0.848000	0.33437	0.003000	0.03518	0.298000	0.19120	0.496000	0.27904	-0.258000	0.10820	GGC		0.627	PGC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040521.2			3	49	0	0	0	1	0	3	49					T	41710082	C	T	41710082	3	4	370	1	0	0	0	0	1	0	0	0	11785	739	26	3	902	3	PGC	6	41710082	Missense_Mutation	SNP	C	TCGA-V1-A8MJ-01A-11D-A364-08	6238678	41710082	129404985	11	18412											
POLR1C	57510	broad.mit.edu	37	chr6	43497088	43497089	+	Intron	INS	-	-	T																															aagagagcgagaccatcctgINSgctaacatggtgaaaccccg																								rs546413926|rs376916252|rs143794012	byFrequency	TCGA-V1-A8MJ-01A-11D-A364-08	TCGA-V1-A8MJ-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1613b958-7660-4968-b373-04b00f3f47c3	80182c4a-c41d-454a-bd5a-62ba971b8050	g.chr6:43497088_43497089insT	ENST00000265351.7	-	24	2888				POLR1C_ENST00000304004.3_Frame_Shift_Ins_p.G342fs	NM_020750.2	NP_065801.1	Q9HAV4	XPO5_HUMAN	exportin 5						gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|protein export from nucleus (GO:0006611)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|protein transporter activity (GO:0008565)|RNA binding (GO:0003723)|tRNA binding (GO:0000049)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(4)|lung(10)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	34	all_cancers(18;2.08e-05)|Lung NSC(15;0.000907)|all_lung(25;0.00243)		all cancers(41;0.000321)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|OV - Ovarian serous cystadenocarcinoma(102;0.0524)			agaccatcctggctaacatggt	0.495													-|-|T|insertion	29	0.00579073	0.0212	0.0014	5008	,	,		11268	0		0	False		,,,				2504	0					ENST00000304004.3																			0				kidney(1)|large_intestine(2)|lung(1)|prostate(1)	5						c.(1024-1026)ctafs		polymerase (RNA) I polypeptide C, 30kDa				68,4174		1,66,2054						-0.3	0		dbSNP_134	55	2,8224		0,2,4111	no	intron	XPO5	NM_020750.2		1,68,6165	A1A1,A1R,RR		0.0243,1.603,0.5614				70,12398				SO:0001627	intron_variant	9533				termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	DNA-directed RNA polymerase I complex|nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|protein dimerization activity	g.chr6:43497088_43497089insT	AB033117	CCDS47430.1	6p21.1	2011-04-13			ENSG00000124571	ENSG00000124571		"Exportins"	17675	protein-coding gene	gene with protein product		607845				11777942, 12426392	Standard	NM_020750		Approved	KIAA1291	uc003ovp.3	Q9HAV4	OTTHUMG00000014742	ENST00000265351.7:c.2678-425->A	6.37:g.43497088_43497089insT						XPO5_ENST00000265351.7_Intron	p.L342fs			O15160	RPAC1_HUMAN	Colorectal(64;0.00245)|all cancers(41;0.00511)|COAD - Colon adenocarcinoma(64;0.00536)|OV - Ovarian serous cystadenocarcinoma(102;0.0711)		9	1045_1046	+	all_cancers(18;3.79e-05)|Lung NSC(15;0.00217)|all_lung(25;0.00536)		0					Q5JTE6|Q96G48|Q96HN3|Q9BWM6|Q9BZV5|Q9H9M4|Q9NT89|Q9NW39|Q9ULC9	Frame_Shift_Ins	INS	ENST00000265351.7	37	c.1024_1025insT	CCDS47430.1																																																																																				0.495	XPO5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040657.2	NM_020750		4	3						4	3	---	---	---	---	T	43497089	-	T	43497088	6	5	370	0	1	1	1	0	0	0	0	0	12211	1348	47	0		0	POLR1C	6	43497088	Intron	INS	-	TCGA-V1-A8MJ-01A-11D-A364-08	1787006	43497088	127617979	12	18413											
SLC30A8	169026	broad.mit.edu	37	chr8	118169934	118169934	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gtgtttgaattcctagagatCcttggtgccctgctctccat	6	15	9	11	0	1	2	0	1	1	1	4	3	3	2	4	1	2	2	4	1	2	4			TCGA-V1-A8MJ-01A-11D-A364-08	TCGA-V1-A8MJ-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1613b958-7660-4968-b373-04b00f3f47c3	80182c4a-c41d-454a-bd5a-62ba971b8050	g.chr8:118169934C>T	ENST00000456015.2	+	4	423	c.423C>T	c.(421-423)atC>atT	p.I141I	SLC30A8_ENST00000519688.1_Silent_p.I92I|SLC30A8_ENST00000521243.1_Silent_p.I92I|SLC30A8_ENST00000427715.2_Silent_p.I92I	NM_173851.2	NP_776250.2	Q8IWU4	ZNT8_HUMAN	solute carrier family 30 (zinc transporter), member 8	141					cellular zinc ion homeostasis (GO:0006882)|insulin secretion (GO:0030073)|positive regulation of insulin secretion (GO:0032024)|regulation of sequestering of zinc ion (GO:0061088)|regulation of vesicle-mediated transport (GO:0060627)|response to glucose (GO:0009749)|response to interferon-gamma (GO:0034341)|response to interleukin-1 (GO:0070555)|sequestering of zinc ion (GO:0032119)|transmembrane transport (GO:0055085)|zinc ion transmembrane transport (GO:0071577)|zinc ion transport (GO:0006829)	cytoplasmic membrane-bounded vesicle (GO:0016023)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)|secretory granule membrane (GO:0030667)	protein homodimerization activity (GO:0042803)|zinc ion binding (GO:0008270)|zinc ion transmembrane transporter activity (GO:0005385)			breast(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(18)|ovary(2)|pancreas(2)|skin(5)	41	all_cancers(13;2.11e-22)|Lung NSC(37;6.08e-05)|Ovarian(258;0.0173)		STAD - Stomach adenocarcinoma(47;0.203)			TCCTAGAGATCCTTGGTGCCC	0.527																																					Ovarian(162;1202 1922 6011 16223 52092)	ENST00000427715.2																			0				breast(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(18)|ovary(2)|pancreas(2)|skin(5)	41						c.(274-276)atC>atT		solute carrier family 30 (zinc transporter), member 8							309	287	295					8																	118169934		2203	4300	6503	SO:0001819	synonymous_variant	169026				insulin secretion|positive regulation of insulin secretion|regulation of sequestering of zinc ion|regulation of vesicle-mediated transport|response to glucose stimulus|sequestering of zinc ion	integral to membrane|plasma membrane|secretory granule membrane|transport vesicle membrane	protein homodimerization activity|zinc ion transmembrane transporter activity	g.chr8:118169934C>T		CCDS6322.1, CCDS55272.1	8q24.11	2014-08-12			ENSG00000164756			"Solute carriers"	20303	protein-coding gene	gene with protein product		611145					Standard	NM_001172811		Approved		uc003yoh.3	Q8IWU4	OTTHUMG00000164962	ENST00000456015.2:c.423C>T	8.37:g.118169934C>T						SLC30A8_ENST00000521243.1_Silent_p.I92I|SLC30A8_ENST00000519688.1_Silent_p.I92I|SLC30A8_ENST00000456015.2_Silent_p.I141I	p.I92I	NM_001172813.1|NM_001172815.1	NP_001166284.1|NP_001166286.1	Q8IWU4	ZNT8_HUMAN	STAD - Stomach adenocarcinoma(47;0.203)		7	710	+	all_cancers(13;2.11e-22)|Lung NSC(37;6.08e-05)|Ovarian(258;0.0173)		141					A0AVP9|A5YM39|B4DPE0|Q8TCL3	Silent	SNP	ENST00000456015.2	37	c.276C>T	CCDS6322.1																																																																																				0.527	SLC30A8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381205.1	NM_173851		13	103	0	0	0	1	0	13	103					T	118169934	C	T	118169934	2	4	370	1	0	0	0	0	0	0	0	1	14561	845	30	3		3	SLC30A8	8	118169934	Silent	SNP	C	TCGA-V1-A8MJ-01A-11D-A364-08		118169934	28194088	13	18414											
OR8H2	390151	broad.mit.edu	37	chr11	55872975	55872975	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctgggccttatgtgattggcTttatagactcctttgtcaac	7	16	9	9	0	1	2	1	1	0	1	2	2	2	2	2	2	1	1	2	2	4	6			TCGA-V1-A8MJ-01A-11D-A364-08	TCGA-V1-A8MJ-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1613b958-7660-4968-b373-04b00f3f47c3	80182c4a-c41d-454a-bd5a-62ba971b8050	g.chr11:55872975T>C	ENST00000313503.1	+	1	457	c.457T>C	c.(457-459)Ttt>Ctt	p.F153L		NM_001005200.1	NP_001005200.1	Q8N162	OR8H2_HUMAN	olfactory receptor, family 8, subfamily H, member 2	153						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.F153L(1)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(38)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	61	Esophageal squamous(21;0.00693)					TGTGATTGGCTTTATAGACTC	0.443										HNSCC(53;0.14)																												ENST00000313503.1																			1	Substitution - Missense(1)	p.F153L(1)	lung(1)	breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(38)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	61						c.(457-459)Ttt>Ctt		olfactory receptor, family 8, subfamily H, member 2							219	196	203					11																	55872975		2201	4296	6497	SO:0001583	missense	390151				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55872975T>C	AB065657	CCDS31518.1	11q11	2012-08-09			ENSG00000181767	ENSG00000181767		"GPCR / Class A : Olfactory receptors"	15308	protein-coding gene	gene with protein product							Standard	NM_001005200		Approved		uc010riy.2	Q8N162	OTTHUMG00000166832	ENST00000313503.1:c.457T>C	11.37:g.55872975T>C	ENSP00000323982:p.Phe153Leu	HNSCC(53;0.14)					p.F153L	NM_001005200.1	NP_001005200.1	Q8N162	OR8H2_HUMAN			1	457	+	Esophageal squamous(21;0.00693)		153					Q6IFC1	Missense_Mutation	SNP	ENST00000313503.1	37	c.457T>C	CCDS31518.1	.	.	.	.	.	.	.	.	.	.	t	8.864	0.947549	0.18356	.	.	ENSG00000181767	ENST00000313503	T	0.00039	8.85	3.58	1.07	0.20283	GPCR, rhodopsin-like superfamily (1);	0.647404	0.14525	N	0.314244	T	0.00073	0.0002	N	0.16656	0.425	0.09310	N	1	B	0.17038	0.02	B	0.20384	0.029	T	0.17930	-1.0353	10	0.30854	T	0.27	.	1.0023	0.01479	0.154:0.2147:0.1575:0.4737	.	153	Q8N162	OR8H2_HUMAN	L	153	ENSP00000323982:F153L	ENSP00000323982:F153L	F	+	1	0	OR8H2	55629551	0.000000	0.05858	0.002000	0.10522	0.030000	0.12068	-0.946000	0.03905	0.081000	0.16988	0.362000	0.22060	TTT		0.443	OR8H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391540.1	NM_001005200		14	97	0	0	0	1	0	14	97					C	55872975	T	C	55872975	3	2	370	1	0	0	0	0	1	0	0	0	11238	1609	56	4	459	4	OR8H2	11	55872975	Missense_Mutation	SNP	T	TCGA-V1-A8MJ-01A-11D-A364-08		55872975	79133541	14	18415											
OR5M1	390168	broad.mit.edu	37	chr11	56380683	56380683	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgatgaagagaagacactgtGtgaagcatccagcgtaggag	14	6	14	7	2	0	4	0	2	0	2	1	7	1	5	1	1	2	2	1	1	4	1			TCGA-V1-A8MJ-01A-11D-A364-08	TCGA-V1-A8MJ-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1613b958-7660-4968-b373-04b00f3f47c3	80182c4a-c41d-454a-bd5a-62ba971b8050	g.chr11:56380683G>A	ENST00000526538.1	-	1	295	c.296C>T	c.(295-297)aCa>aTa	p.T99I		NM_001004740.1	NP_001004740.1	Q8NGP8	OR5M1_HUMAN	olfactory receptor, family 5, subfamily M, member 1	99						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(7)|upper_aerodigestive_tract(1)	12						AAGACACTGTGTGAAGCATCC	0.443																																						ENST00000526538.1																			0				central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(7)|upper_aerodigestive_tract(1)	12						c.(295-297)aCa>aTa		olfactory receptor, family 5, subfamily M, member 1							161	148	152					11																	56380683		1957	4157	6114	SO:0001583	missense	390168				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56380683G>A	AB065742	CCDS53631.1	11q11	2012-08-09				ENSG00000255012		"GPCR / Class A : Olfactory receptors"	8352	protein-coding gene	gene with protein product							Standard	NM_001004740		Approved	OST050	uc001nja.1	Q8NGP8		ENST00000526538.1:c.296C>T	11.37:g.56380683G>A	ENSP00000435416:p.Thr99Ile						p.T99I	NM_001004740.1	NP_001004740.1	Q8NGP8	OR5M1_HUMAN			1	295	-			99					Q6IF60|Q96RB6	Missense_Mutation	SNP	ENST00000526538.1	37	c.296C>T	CCDS53631.1	.	.	.	.	.	.	.	.	.	.	G	0.323	-0.960634	0.02249	.	.	ENSG00000255012	ENST00000526538	T	0.08807	3.05	3.71	0.182	0.15077	GPCR, rhodopsin-like superfamily (1);	0.174789	0.27406	N	0.019511	T	0.03739	0.0106	N	0.10837	0.055	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.44667	-0.9313	10	0.20519	T	0.43	-10.6668	8.4656	0.32953	0.3587:0.0:0.6413:0.0	.	99	Q8NGP8	OR5M1_HUMAN	I	99	ENSP00000435416:T99I	ENSP00000435416:T99I	T	-	2	0	OR5M1	56137259	0.000000	0.05858	0.696000	0.30242	0.345000	0.29048	-0.032000	0.12266	0.214000	0.20742	0.280000	0.19369	ACA		0.443	OR5M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391610.1	NM_001004740		4	42	0	0	0	1	0	4	42					A	56380683	G	A	56380683	3	1	370	1	0	0	0	0	1	0	0	0	11172	1377	48	3	655	3	OR5M1	11	56380683	Missense_Mutation	SNP	G	TCGA-V1-A8MJ-01A-11D-A364-08	507708	56380683	78625833	15	18416											
RPH3A	22895	broad.mit.edu	37	chr12	113307699	113307699	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ttcatgctcttctttccaggCcctgacccagcctctgctcc	4	13	6	18	0	4	1	1	1	3	0	6	1	6	1	5	1	3	2	5	1	0	3			TCGA-V1-A8MJ-01A-11D-A364-08	TCGA-V1-A8MJ-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1613b958-7660-4968-b373-04b00f3f47c3	80182c4a-c41d-454a-bd5a-62ba971b8050	g.chr12:113307699C>A	ENST00000389385.4	+	10	1148	c.651C>A	c.(649-651)ggC>ggA	p.G217G	RPH3A_ENST00000420983.2_Splice_Site_p.G217G|RPH3A_ENST00000543106.2_Splice_Site_p.G217G|RPH3A_ENST00000551052.1_Splice_Site_p.G213G|RPH3A_ENST00000415485.3_Splice_Site_p.G217G|RPH3A_ENST00000548866.1_Splice_Site_p.G168G|RPH3A_ENST00000447659.2_Splice_Site_p.G168G|RPH3A_ENST00000549913.2_3'UTR	NM_001143854.1|NM_014954.3	NP_001137326.1|NP_055769.2	Q9Y2J0	RP3A_HUMAN	rabphilin 3A	217	Pro-rich.				intracellular protein transport (GO:0006886)	cell junction (GO:0030054)|membrane (GO:0016020)|synaptic vesicle (GO:0008021)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|phosphatidylinositol phosphate binding (GO:1901981)|transporter activity (GO:0005215)			breast(1)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)|ovary(3)|prostate(4)|skin(6)|urinary_tract(1)	47				BRCA - Breast invasive adenocarcinoma(302;0.00453)		TCTTTCCAGGCCCTGACCCAG	0.547																																						ENST00000389385.4																			0				breast(1)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)|ovary(3)|prostate(4)|skin(6)|urinary_tract(1)	47						c.e10-1		rabphilin 3A homolog (mouse)							117	114	115					12																	113307699		2203	4300	6503	SO:0001630	splice_region_variant	22895				intracellular protein transport	cell junction|synaptic vesicle	Rab GTPase binding|transporter activity|zinc ion binding	g.chr12:113307699C>A	AB023202	CCDS31904.1, CCDS44979.1	12q24.13	2014-07-02	2014-07-02		ENSG00000089169	ENSG00000089169		"Synaptotagmins"	17056	protein-coding gene	gene with protein product		612159	"rabphilin 3A homolog (mouse)"			10231032, 7822236	Standard	NM_014954		Approved	KIAA0985, rabphilin, exophilin-1	uc001ttz.3	Q9Y2J0	OTTHUMG00000169713	ENST00000389385.4:c.650-1C>A	12.37:g.113307699C>A						RPH3A_ENST00000551052.1_Splice_Site_p.G213_splice|RPH3A_ENST00000543106.2_Splice_Site_p.G217_splice|RPH3A_ENST00000548866.1_Splice_Site_p.G168_splice|RPH3A_ENST00000420983.2_Splice_Site_p.G217_splice|RPH3A_ENST00000447659.2_Splice_Site_p.G168_splice|RPH3A_ENST00000415485.3_Splice_Site_p.G217_splice|RPH3A_ENST00000549913.2_3'UTR	p.G217_splice	NM_001143854.1|NM_014954.3	NP_001137326.1|NP_055769.2	Q9Y2J0	RP3A_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.00453)	10	1148	+			217			Pro-rich.		B7Z3C3|Q96AE0	Splice_Site	SNP	ENST00000389385.4	37	c.649_splice	CCDS44979.1																																																																																				0.547	RPH3A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000405561.1	NM_014954	Silent	7	38	1	0	0.27861	1	0.289755	7	38					A	113307699	C	A	113307699	5	1	370	1	0	0	0	0	0	0	1	0	13551	753	26	5	681	5	RPH3A	12	113307699	Splice_Site	SNP	C	TCGA-V1-A8MJ-01A-11D-A364-08		113307699	20544196	16	18417											
DNAH3	55567	broad.mit.edu	37	chr16	20974749	20974749	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caatgaactcccggaccgctGgcaccattttgtcaggccgc	8	8	10	15	3	1	1	1	1	0	0	2	2	2	2	4	3	1	2	4	3	2	2			TCGA-V1-A8MJ-01A-11D-A364-08	TCGA-V1-A8MJ-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1613b958-7660-4968-b373-04b00f3f47c3	80182c4a-c41d-454a-bd5a-62ba971b8050	g.chr16:20974749G>A	ENST00000261383.3	-	53	10456	c.10457C>T	c.(10456-10458)cCa>cTa	p.P3486L	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	3486					cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		CCGGACCGCTGGCACCATTTT	0.532																																						ENST00000261383.3																			0				NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202						c.(10456-10458)cCa>cTa		dynein, axonemal, heavy chain 3							92	81	84					16																	20974749		2201	4300	6501	SO:0001583	missense	55567				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr16:20974749G>A	U83574	CCDS10594.1	16p12.2	2008-08-01	2006-09-04		ENSG00000158486	ENSG00000158486		"Axonemal dyneins"	2949	protein-coding gene	gene with protein product		603334	"dynein, axonemal, heavy polypeptide 3"			9256245, 9373155	Standard	NM_017539		Approved	Dnahc3b, DLP3, Hsadhc3, DKFZp434N074	uc010vbe.2	Q8TD57	OTTHUMG00000090677	ENST00000261383.3:c.10457C>T	16.37:g.20974749G>A	ENSP00000261383:p.Pro3486Leu					DNAH3_ENST00000415178.1_3'UTR	p.P3486L	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN		GBM - Glioblastoma multiforme(48;0.207)	53	10456	-			3486					O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Missense_Mutation	SNP	ENST00000261383.3	37	c.10457C>T	CCDS10594.1	.	.	.	.	.	.	.	.	.	.	G	18.29	3.591522	0.66219	.	.	ENSG00000158486	ENST00000261383	T	0.06849	3.25	5.52	5.52	0.82312	Dynein heavy chain (1);	0.000000	0.85682	D	0.000000	T	0.26666	0.0652	M	0.68952	2.095	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.04961	-1.0915	10	0.11485	T	0.65	.	19.4388	0.94809	0.0:0.0:1.0:0.0	.	3486	Q8TD57	DYH3_HUMAN	L	3486	ENSP00000261383:P3486L	ENSP00000261383:P3486L	P	-	2	0	DNAH3	20882250	1.000000	0.71417	0.928000	0.36995	0.074000	0.17049	6.740000	0.74832	2.590000	0.87494	0.655000	0.94253	CCA		0.532	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207361.1	NM_017539		3	31	0	0	0	1	0	3	31					A	20974749	G	A	20974749	3	1	370	1	0	0	0	0	1	0	0	0	4603	1348	47	3	1932	3	DNAH3	16	20974749	Missense_Mutation	SNP	G	TCGA-V1-A8MJ-01A-11D-A364-08		20974749	69380004	17	18418											
ITGAX	3687	broad.mit.edu	37	chr16	31393167	31393167	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caaggaaatgatggaggaggCaaatggacaaattgccccag	16	5	13	7	0	0	1	0	1	0	0	0	5	0	5	2	5	1	1	2	5	4	1			TCGA-V1-A8MJ-01A-11D-A364-08	TCGA-V1-A8MJ-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1613b958-7660-4968-b373-04b00f3f47c3	80182c4a-c41d-454a-bd5a-62ba971b8050	g.chr16:31393167C>A	ENST00000268296.4	+	30	3552	c.3431C>A	c.(3430-3432)gCa>gAa	p.A1144E	ITGAX_ENST00000562522.1_Missense_Mutation_p.A1144E	NM_000887.3	NP_000878.2	P20702	ITAX_HUMAN	integrin, alpha X (complement component 3 receptor 4 subunit)	1144					blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|organ morphogenesis (GO:0009887)	cell surface (GO:0009986)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|receptor activity (GO:0004872)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	77						ATGGAGGAGGCAAATGGACAA	0.527																																						ENST00000268296.4																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	77						c.(3430-3432)gCa>gAa		integrin, alpha X (complement component 3 receptor 4 subunit)							154	159	157					16																	31393167		2197	4300	6497	SO:0001583	missense	3687				blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis	integrin complex	protein binding|receptor activity	g.chr16:31393167C>A	BC038237	CCDS10711.1, CCDS67014.1	16p11.2	2010-03-23	2006-02-10		ENSG00000140678	ENSG00000140678		"CD molecules", "Complement system", "Integrins"	6152	protein-coding gene	gene with protein product		151510	"integrin, alpha X (antigen CD11C (p150), alpha polypeptide)"	CD11C		3284962, 2303426	Standard	NM_001286375		Approved	CD11c	uc002ebu.1	P20702	OTTHUMG00000132465	ENST00000268296.4:c.3431C>A	16.37:g.31393167C>A	ENSP00000268296:p.Ala1144Glu					ITGAX_ENST00000562522.1_Missense_Mutation_p.A1144E	p.A1144E	NM_000887.3	NP_000878.2	P20702	ITAX_HUMAN			30	3552	+			1144					Q8IVA6	Missense_Mutation	SNP	ENST00000268296.4	37	c.3431C>A	CCDS10711.1	.	.	.	.	.	.	.	.	.	.	C	14.83	2.653041	0.47362	.	.	ENSG00000140678	ENST00000268296	T	0.57907	0.37	5.02	0.269	0.15631	.	.	.	.	.	T	0.37652	0.1011	L	0.31804	0.96	0.09310	N	0.999991	P;B	0.45126	0.851;0.409	B;B	0.40165	0.321;0.168	T	0.18808	-1.0325	9	0.25106	T	0.35	.	11.4553	0.50179	0.6369:0.3631:0.0:0.0	.	1144;329	P20702;Q8TES5	ITAX_HUMAN;.	E	1144	ENSP00000268296:A1144E	ENSP00000268296:A1144E	A	+	2	0	ITGAX	31300668	0.002000	0.14202	0.650000	0.29550	0.341000	0.28922	0.047000	0.14056	0.313000	0.23062	0.591000	0.81541	GCA		0.527	ITGAX-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000255628.2	NM_000887		4	56	1	0	0.150653	1	0.163208	4	56					A	31393167	C	A	31393167	3	1	370	1	0	0	0	0	1	0	0	0	7889	710	25	5	3549	5	ITGAX	16	31393167	Missense_Mutation	SNP	C	TCGA-V1-A8MJ-01A-11D-A364-08	10418418	31393167	58961586	18	18419											
TP53	7157	broad.mit.edu	37	chr17	7578389	7578389	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	accatcgctatctgagcagcGctcatggtgggggcagcgcc	7	7	14	13	3	2	1	1	1	1	0	3	1	2	1	2	3	3	4	2	3	1	1	rs587782596		TCGA-V1-A8MJ-01A-11D-A364-08	TCGA-V1-A8MJ-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1613b958-7660-4968-b373-04b00f3f47c3	80182c4a-c41d-454a-bd5a-62ba971b8050	g.chr17:7578389G>A	ENST00000269305.4	-	5	730	c.541C>T	c.(541-543)Cgc>Tgc	p.R181C	TP53_ENST00000420246.2_Missense_Mutation_p.R181C|TP53_ENST00000413465.2_Missense_Mutation_p.R181C|TP53_ENST00000455263.2_Missense_Mutation_p.R181C|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000359597.4_Missense_Mutation_p.R181C|TP53_ENST00000445888.2_Missense_Mutation_p.R181C	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	181	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> L (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R181C(19)|p.0?(8)|p.P177_C182delPHHERC(8)|p.R174fs*24(3)|p.C176_R181delCPHHER(3)|p.H178_S183delHHERCS(3)|p.P177fs*3(2)|p.R49C(2)|p.R88C(2)|p.V173fs*59(2)|p.C176fs*65(1)|p.R181G(1)|p.H85_S90delHHERCS(1)|p.E180_S183del(1)|p.R174fs*3(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.R81fs*24(1)|p.R181>XXXXXXX(1)|p.H46_S51delHHERCS(1)|p.R42fs*24(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	TCTGAGCAGCGCTCATGGTGG	0.637		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"Mis, N, F"	tumor protein p53			"L, E, M, O"		"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"	"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"		63	Substitution - Missense(24)|Deletion - In frame(17)|Deletion - Frameshift(13)|Whole gene deletion(8)|Complex - insertion inframe(1)	p.R181C(19)|p.0?(8)|p.P177_C182delPHHERC(8)|p.R174fs*24(3)|p.C176_R181delCPHHER(3)|p.H178_S183delHHERCS(3)|p.P177fs*3(2)|p.R49C(2)|p.R88C(2)|p.V173fs*59(2)|p.C176fs*65(1)|p.R181G(1)|p.H85_S90delHHERCS(1)|p.E180_S183del(1)|p.R174fs*3(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.R81fs*24(1)|p.R181>XXXXXXX(1)|p.H46_S51delHHERCS(1)|p.R42fs*24(1)	large_intestine(13)|lung(9)|upper_aerodigestive_tract(7)|liver(6)|breast(5)|central_nervous_system(4)|oesophagus(4)|bone(4)|haematopoietic_and_lymphoid_tissue(3)|ovary(3)|stomach(2)|biliary_tract(1)|endometrium(1)|pancreas(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185	GRCh37	CM920672	TP53	M		c.(541-543)Cgc>Tgc	Other conserved DNA damage response genes	tumor protein p53							47	47	47					17																	7578389		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578389G>A	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"Li-Fraumeni syndrome"	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.541C>T	17.37:g.7578389G>A	ENSP00000269305:p.Arg181Cys	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_ENST00000269305.4_Missense_Mutation_p.R181C|TP53_ENST00000359597.4_Missense_Mutation_p.R181C|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000455263.2_Missense_Mutation_p.R181C|TP53_ENST00000413465.2_Missense_Mutation_p.R181C|TP53_ENST00000445888.2_Missense_Mutation_p.R181C	p.R181C	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	5	673	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	181		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> L (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.541C>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	15.02	2.710022	0.48517	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99784	-6.74;-6.74;-6.74;-6.74;-6.74;-6.74;-6.74;-6.74	5.47	5.47	0.80525	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99743	0.9898	M	0.83953	2.67	0.80722	D	1	B;B;D;P;B;B;P	0.71674	0.292;0.143;0.998;0.578;0.183;0.173;0.765	B;B;D;B;B;B;B	0.70227	0.078;0.072;0.968;0.104;0.192;0.144;0.182	D	0.97431	1.0015	10	0.87932	D	0	-14.2374	17.1938	0.86887	0.0:0.0:1.0:0.0	.	142;181;181;88;181;181;181	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	C	181;181;181;181;181;181;170;88;49;88;49	ENSP00000410739:R181C;ENSP00000352610:R181C;ENSP00000269305:R181C;ENSP00000398846:R181C;ENSP00000391127:R181C;ENSP00000391478:R181C;ENSP00000425104:R49C;ENSP00000423862:R88C	ENSP00000269305:R181C	R	-	1	0	TP53	7519114	1.000000	0.71417	0.999000	0.59377	0.822000	0.46500	7.058000	0.76676	2.735000	0.93741	0.563000	0.77884	CGC		0.637	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		6	45	0	0	0	1	0	6	45					A	7578389	G	A	7578389	3	1	370	1	0	0	0	0	1	0	0	0	16378	1087	38	1	757	1	TP53	17	7578389	Missense_Mutation	SNP	G	TCGA-V1-A8MJ-01A-11D-A364-08		7578389	73616821	19	18420											
SLC47A1	55244	broad.mit.edu	37	chr17	19451300	19451300	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tggctgtgtgcaccccagacGtacgggagccagaacctgaa	10	6	13	12	2	0	3	0	1	0	2	0	4	0	4	4	2	4	3	4	2	3	1	rs202097418		TCGA-V1-A8MJ-01A-11D-A364-08	TCGA-V1-A8MJ-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1613b958-7660-4968-b373-04b00f3f47c3	80182c4a-c41d-454a-bd5a-62ba971b8050	g.chr17:19451300G>A	ENST00000270570.4	+	4	395	c.309G>A	c.(307-309)acG>acA	p.T103T	SLC47A1_ENST00000436810.2_Silent_p.T80T|SLC47A1_ENST00000575023.1_Silent_p.T103T|SLC47A1_ENST00000584348.1_3'UTR|SLC47A1_ENST00000542886.1_Silent_p.T103T|SLC47A1_ENST00000457293.1_Silent_p.T103T|SLC47A1_ENST00000395585.1_Silent_p.T103T|SLC47A1_ENST00000571335.1_5'UTR	NM_018242.2	NP_060712.2	Q96FL8	S47A1_HUMAN	solute carrier family 47 (multidrug and toxin extrusion), member 1	103					organic cation transport (GO:0015695)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|membrane-bounded vesicle (GO:0031988)|plasma membrane (GO:0005886)	drug transmembrane transporter activity (GO:0015238)|monovalent cation:proton antiporter activity (GO:0005451)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(5)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	23	all_cancers(12;2.49e-05)|all_epithelial(12;0.00263)|Hepatocellular(7;0.00345)				Aciclovir(DB00787)|Bromodiphenhydramine(DB01237)|Cephalexin(DB00567)|Cimetidine(DB00501)|Metformin(DB00331)|Sirolimus(DB00877)	CACCCCAGACGTACGGGAGCC	0.582													G|||	1	0.000199681	0	0	5008	,	,		19195	0		0	False		,,,				2504	0.001					ENST00000270570.4																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(5)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	23						c.(307-309)acG>acA		solute carrier family 47 (multidrug and toxin extrusion), member 1							111	100	104					17																	19451300		2203	4300	6503	SO:0001819	synonymous_variant	55244					integral to membrane|plasma membrane	drug:hydrogen antiporter activity	g.chr17:19451300G>A		CCDS11209.1	17p11.2	2013-07-17	2013-07-17		ENSG00000142494	ENSG00000142494		"Solute carriers"	25588	protein-coding gene	gene with protein product	"multidrug and toxin extrusion 1"	609832				16330770, 16996621, 16928787	Standard	NM_018242		Approved	FLJ10847, MATE1	uc002gvy.1	Q96FL8	OTTHUMG00000059466	ENST00000270570.4:c.309G>A	17.37:g.19451300G>A						SLC47A1_ENST00000436810.2_Silent_p.T80T|SLC47A1_ENST00000542886.1_Silent_p.T103T|SLC47A1_ENST00000457293.1_Silent_p.T103T|SLC47A1_ENST00000395585.1_Silent_p.T103T|SLC47A1_ENST00000571335.1_5'UTR|SLC47A1_ENST00000575023.1_Silent_p.T103T|SLC47A1_ENST00000584348.1_3'UTR	p.T103T	NM_018242.2	NP_060712.2	Q96FL8	S47A1_HUMAN			4	395	+	all_cancers(12;2.49e-05)|all_epithelial(12;0.00263)|Hepatocellular(7;0.00345)		103					Q53HF5|Q6PD77|Q86VL4|Q9NVA3	Silent	SNP	ENST00000270570.4	37	c.309G>A	CCDS11209.1																																																																																				0.582	SLC47A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132250.1	NM_018242		4	25	0	0	0	1	0	4	25					A	19451300	G	A	19451300	2	1	370	1	0	0	0	0	0	0	0	1	14647	1132	40	1		1	SLC47A1	17	19451300	Silent	SNP	G	TCGA-V1-A8MJ-01A-11D-A364-08	11872911	19451300	61743910	20	18421											
MUC16	94025	broad.mit.edu	37	chr19	9059816	9059816	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtgacttcagtgatggccagTatttcagctgaggtgctgct	7	13	13	8	0	2	3	2	3	0	0	2	3	2	3	1	2	3	4	1	2	1	3			TCGA-V1-A8MJ-01A-11D-A364-08	TCGA-V1-A8MJ-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1613b958-7660-4968-b373-04b00f3f47c3	80182c4a-c41d-454a-bd5a-62ba971b8050	g.chr19:9059816T>C	ENST00000397910.4	-	3	27833	c.27630A>G	c.(27628-27630)atA>atG	p.I9210M		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	9212	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TGATGGCCAGTATTTCAGCTG	0.488																																						ENST00000397910.4																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(27628-27630)atA>atG		mucin 16, cell surface associated							125	118	121					19																	9059816		1973	4160	6133	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9059816T>C	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.27630A>G	19.37:g.9059816T>C	ENSP00000381008:p.Ile9210Met						p.I9210M	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			3	27833	-			9212			Ser-rich.|Thr-rich.		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.27630A>G	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	t	0.254	-1.004128	0.02112	.	.	ENSG00000181143	ENST00000397910	T	0.27256	1.68	2.29	-4.57	0.03421	.	.	.	.	.	T	0.14527	0.0351	N	0.24115	0.695	.	.	.	P	0.43885	0.82	B	0.43950	0.437	T	0.09596	-1.0667	8	0.87932	D	0	.	0.4766	0.00541	0.3399:0.223:0.2598:0.1773	.	9210	B5ME49	.	M	9210	ENSP00000381008:I9210M	ENSP00000381008:I9210M	I	-	3	3	MUC16	8920816	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-1.758000	0.01810	-3.199000	0.00217	-0.682000	0.03756	ATA		0.488	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		3	42	0	0	0	1	0	3	42					C	9059816	T	C	9059816	3	2	370	1	0	0	0	0	1	0	0	0	9973	1628	57	4	16221	4	MUC16	19	9059816	Missense_Mutation	SNP	T	TCGA-V1-A8MJ-01A-11D-A364-08		9059816	50069167	21	18422											
C19orf39	126074	broad.mit.edu	37	chr19	11486247	11486247	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tttccggctcctgtgctctgCccatgaggccccggggccag	3	9	13	16	2	1	1	0	1	1	0	3	1	3	1	6	4	2	2	6	4	0	1			TCGA-V1-A8MJ-01A-11D-A364-08	TCGA-V1-A8MJ-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1613b958-7660-4968-b373-04b00f3f47c3	80182c4a-c41d-454a-bd5a-62ba971b8050	g.chr19:11486247C>A	ENST00000312423.2	+	2	304	c.245C>A	c.(244-246)gCc>gAc	p.A82D	CTD-2342J14.6_ENST00000590399.1_RNA	NM_175871.3	NP_787067.2	Q6NVH7	SWAP1_HUMAN	SWIM-type zinc finger 7 associated protein 1	82					ATP catabolic process (GO:0006200)|double-strand break repair via homologous recombination (GO:0000724)|protein stabilization (GO:0050821)	nucleus (GO:0005634)|Shu complex (GO:0097196)	ATPase activity (GO:0016887)|single-stranded DNA binding (GO:0003697)										CTGTGCTCTGCCCATGAGGCC	0.612																																						ENST00000312423.2																			0											c.(244-246)gCc>gAc		SWIM-type zinc finger 7 associated protein 1							89	106	101					19																	11486247		2203	4300	6503	SO:0001583	missense	126074							g.chr19:11486247C>A	AK092438	CCDS12259.1	19p13.2	2011-11-24	2011-11-24	2011-11-24	ENSG00000173928	ENSG00000173928			26638	protein-coding gene	gene with protein product	"zinc finger, SWIM-type containing 7 associated protein 1", "SWS1-associated protein 1"	614536	"chromosome 19 open reading frame 39"	C19orf39		21965664	Standard	NM_175871		Approved	FLJ35119, ZSWIM7AP1, SWS1AP1	uc002mrg.1	Q6NVH7		ENST00000312423.2:c.245C>A	19.37:g.11486247C>A	ENSP00000310008:p.Ala82Asp						p.A82D	NM_175871.3	NP_787067.2	Q6NVH7	CS039_HUMAN			2	304	+			82					Q8NAM1	Missense_Mutation	SNP	ENST00000312423.2	37	c.245C>A	CCDS12259.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.230514	0.79688	.	.	ENSG00000173928	ENST00000312423	T	0.79033	-1.23	5.17	4.08	0.47627	.	0.277618	0.30060	N	0.010507	D	0.82751	0.5105	M	0.65975	2.015	0.30877	N	0.731801	D	0.76494	0.999	D	0.72338	0.977	T	0.80708	-0.1262	10	0.72032	D	0.01	-18.7388	4.1949	0.10438	0.0:0.6105:0.2413:0.1482	.	82	Q6NVH7	CS039_HUMAN	D	82	ENSP00000310008:A82D	ENSP00000310008:A82D	A	+	2	0	C19orf39	11347247	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	2.120000	0.41968	2.419000	0.82065	0.655000	0.94253	GCC		0.612	SWSAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458789.1	NM_175871		4	108	1	0	1	1	1	4	108					A	11486247	C	A	11486247	3	1	370	1	0	0	0	0	1	0	0	0	1922	739	26	5	251	5	C19orf39	19	11486247	Missense_Mutation	SNP	C	TCGA-V1-A8MJ-01A-11D-A364-08	2426431	11486247	47642736	22	18423											
NLRP12	91662	broad.mit.edu	37	chr19	54314477	54314477	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttgacacattcccctaggcGcgcattgcggtcttccatga	7	11	10	13	3	1	2	0	2	1	0	3	2	3	2	3	2	1	2	3	2	1	5	rs200736514	byFrequency	TCGA-V1-A8MJ-01A-11D-A364-08	TCGA-V1-A8MJ-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1613b958-7660-4968-b373-04b00f3f47c3	80182c4a-c41d-454a-bd5a-62ba971b8050	g.chr19:54314477G>A	ENST00000324134.6	-	3	604	c.436C>T	c.(436-438)Cgc>Tgc	p.R146C	NLRP12_ENST00000535162.1_Missense_Mutation_p.R146C|NLRP12_ENST00000391775.3_Missense_Mutation_p.R146C|NLRP12_ENST00000391772.1_Missense_Mutation_p.R146C|NLRP12_ENST00000345770.5_Missense_Mutation_p.R146C|NLRP12_ENST00000354278.3_Missense_Mutation_p.R146C|NLRP12_ENST00000351894.4_Missense_Mutation_p.R146C|NLRP12_ENST00000391773.1_Missense_Mutation_p.R146C	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12	146					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|cellular response to cytokine stimulus (GO:0071345)|dendritic cell migration (GO:0036336)|negative regulation of cytokine secretion (GO:0050710)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 secretion (GO:0050711)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of NIK/NF-kappaB signaling (GO:1901223)|negative regulation of protein autophosphorylation (GO:0031953)|negative regulation of signal transduction (GO:0009968)|negative regulation of Toll signaling pathway (GO:0045751)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of MHC class I biosynthetic process (GO:0045345)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of interleukin-18 biosynthetic process (GO:0045381)|release of cytoplasmic sequestered NF-kappaB (GO:0008588)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)			NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		TCCCCTAGGCGCGCATTGCGG	0.572																																						ENST00000324134.6																			0				NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80						c.(436-438)Cgc>Tgc		NLR family, pyrin domain containing 12							91	88	89					19																	54314477		2203	4300	6503	SO:0001583	missense	91662				negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding	g.chr19:54314477G>A	AY095146	CCDS12864.1, CCDS62784.1, CCDS62785.1	19q13.42	2014-09-17	2006-12-08	2006-12-08	ENSG00000142405	ENSG00000142405		"Nucleotide-binding domain and leucine rich repeat containing"	22938	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 12"	609648	"NACHT, leucine rich repeat and PYD containing 12"	NALP12		12563287, 12019269	Standard	NM_001277129		Approved	RNO2, PYPAF7, Monarch1, PAN6, CLR19.3	uc002qcj.5	P59046	OTTHUMG00000060776	ENST00000324134.6:c.436C>T	19.37:g.54314477G>A	ENSP00000319377:p.Arg146Cys					NLRP12_ENST00000391773.1_Missense_Mutation_p.R146C|NLRP12_ENST00000535162.1_Missense_Mutation_p.R146C|NLRP12_ENST00000391772.1_Missense_Mutation_p.R146C|NLRP12_ENST00000391775.3_Missense_Mutation_p.R146C|NLRP12_ENST00000354278.3_Missense_Mutation_p.R146C|NLRP12_ENST00000351894.4_Missense_Mutation_p.R146C|NLRP12_ENST00000345770.5_Missense_Mutation_p.R146C	p.R146C	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN		GBM - Glioblastoma multiforme(134;0.026)	3	604	-	Ovarian(34;0.19)		146					A8MTQ2|B3KTE7|Q8NEU4|Q9BY26	Missense_Mutation	SNP	ENST00000324134.6	37	c.436C>T	CCDS12864.1	.	.	.	.	.	.	.	.	.	.	G	13.21	2.168238	0.38315	.	.	ENSG00000142405	ENST00000324134;ENST00000535162;ENST00000351894;ENST00000354278;ENST00000391775;ENST00000391773;ENST00000345770;ENST00000391772	D;D;D;D;D;D;D	0.89343	-2.5;-2.5;-2.5;-2.5;-2.5;-2.5;-2.5	4.47	4.47	0.54385	.	0.000000	0.42294	D	0.000728	D	0.92893	0.7739	M	0.68317	2.08	0.58432	D	0.999997	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.68621	0.925;0.926;0.959;0.945	D	0.92711	0.6183	10	0.45353	T	0.12	.	15.0639	0.71977	0.0:0.0:1.0:0.0	.	146;146;146;146	F2Z321;A8K407;A8MTQ2;P59046	.;.;.;NAL12_HUMAN	C	146	ENSP00000319377:R146C;ENSP00000438030:R146C;ENSP00000340473:R146C;ENSP00000346231:R146C;ENSP00000375655:R146C;ENSP00000375653:R146C;ENSP00000375652:R146C	ENSP00000319377:R146C	R	-	1	0	NLRP12	59006289	0.003000	0.15002	0.713000	0.30519	0.981000	0.71138	0.672000	0.25187	2.228000	0.72767	0.306000	0.20318	CGC		0.572	NLRP12-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000134340.1	NM_144687		13	77	0	0	0	1	0	13	77					A	54314477	G	A	54314477	3	1	370	1	0	0	0	0	1	0	0	0	10474	1087	38	1	2877	1	NLRP12	19	54314477	Missense_Mutation	SNP	G	TCGA-V1-A8MJ-01A-11D-A364-08	42828230	54314477	4814506	23	18424											
CECR2	27443	broad.mit.edu	37	chr22	18020457	18020457	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcccctgcattgtggtgggAcacccagccaggcacccttt	7	9	10	15	0	0	0	0	0	0	0	1	1	1	1	5	3	2	2	5	3	0	2			TCGA-V1-A8MJ-01A-11D-A364-08	TCGA-V1-A8MJ-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1613b958-7660-4968-b373-04b00f3f47c3	80182c4a-c41d-454a-bd5a-62ba971b8050	g.chr22:18020457A>G	ENST00000400585.2	+	14	1801	c.1363A>G	c.(1363-1365)Aca>Gca	p.T455A	CECR2_ENST00000400573.5_Missense_Mutation_p.T596A|CECR2_ENST00000262608.8_Missense_Mutation_p.T597A			Q9BXF3	CECR2_HUMAN	cat eye syndrome chromosome region, candidate 2	638	Bromo. {ECO:0000255|PROSITE- ProRule:PRU00035}.				apoptotic DNA fragmentation (GO:0006309)|ATP-dependent chromatin remodeling (GO:0043044)|cytokinesis (GO:0000910)|cytoskeleton organization (GO:0007010)|execution phase of apoptosis (GO:0097194)|neural tube development (GO:0021915)|vesicle-mediated transport (GO:0016192)	CERF complex (GO:0090537)|nucleus (GO:0005634)				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	59		all_epithelial(15;0.139)		Lung(27;0.146)		TTGTGGTGGGACACCCAGCCA	0.537																																						ENST00000262608.8																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	59						c.(1789-1791)Aca>Gca		cat eye syndrome chromosome region, candidate 2							59	63	62					22																	18020457		1908	4129	6037	SO:0001583	missense	27443				chromatin modification|cytokinesis|cytoskeleton organization|DNA fragmentation involved in apoptotic nuclear change|vesicle-mediated transport		protein binding	g.chr22:18020457A>G	AF336133		22q11.2	2012-04-19			ENSG00000099954	ENSG00000099954			1840	protein-coding gene	gene with protein product		607576				11381032	Standard	XM_006724077		Approved	KIAA1740	uc002zml.2	Q9BXF3	OTTHUMG00000150072	ENST00000400585.2:c.1363A>G	22.37:g.18020457A>G	ENSP00000383428:p.Thr455Ala					CECR2_ENST00000400585.2_Missense_Mutation_p.T455A|CECR2_ENST00000400573.4_Missense_Mutation_p.T596A	p.T597A	NM_031413.3	NP_113601.2	Q9BXF3	CECR2_HUMAN		Lung(27;0.146)	13	1789	+		all_epithelial(15;0.139)	638					A8MS90|A8MX16|Q658Z4|Q96P58|Q9C0C3	Missense_Mutation	SNP	ENST00000400585.2	37	c.1789A>G		.	.	.	.	.	.	.	.	.	.	A	8.526	0.869981	0.17322	.	.	ENSG00000099954	ENST00000400585;ENST00000400573;ENST00000262608	T;T;T	0.24538	1.99;1.98;1.85	5.74	1.24	0.21308	.	0.887861	0.09642	N	0.774865	T	0.14056	0.0340	N	0.14661	0.345	0.20307	N	0.999912	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.36841	-0.9731	10	0.19147	T	0.46	0.0801	8.8703	0.35311	0.6995:0.0:0.3005:0.0	.	638;455;596	Q9BXF3;B7WPH3;E2QRE6	CECR2_HUMAN;.;.	A	455;596;597	ENSP00000383428:T455A;ENSP00000383417:T596A;ENSP00000262608:T597A	ENSP00000262608:T597A	T	+	1	0	CECR2	16400457	0.978000	0.34361	0.032000	0.17829	0.060000	0.15804	1.174000	0.31932	-0.078000	0.12730	0.402000	0.26972	ACA		0.537	CECR2-002	NOVEL	basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000316226.2	NM_031413		4	36	0	0	0	1	0	4	36					G	18020457	A	G	18020457	3	3	370	1	0	0	0	0	1	0	0	0	3206	275	10	4	1838	4	CECR2	22	18020457	Missense_Mutation	SNP	A	TCGA-V1-A8MJ-01A-11D-A364-08		18020457	33284109	24	18425											
FCRL5	83416	broad.mit.edu	37	chr1	157509002	157509002	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cactcctcctgcagagttggCcgacctacgctccagggcag	7	7	11	16	2	0	1	0	0	0	1	3	2	3	1	5	2	2	4	5	2	1	2			TCGA-V1-A8MK-01A-11D-A364-08	TCGA-V1-A8MK-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96303eed-b939-4980-b0c6-c64f4c0c6bf1	7f00368f-9274-4a6d-a253-193feaac3ced	g.chr1:157509002C>T	ENST00000361835.3	-	7	1433	c.1276G>A	c.(1276-1278)Gcc>Acc	p.A426T	FCRL5_ENST00000368189.3_Missense_Mutation_p.A426T|FCRL5_ENST00000356953.4_Missense_Mutation_p.A426T|FCRL5_ENST00000368191.3_Missense_Mutation_p.A341T|FCRL5_ENST00000368190.3_Missense_Mutation_p.A426T	NM_001195388.1|NM_031281.2	NP_001182317.1|NP_112571.2	Q96RD9	FCRL5_HUMAN	Fc receptor-like 5	426	Ig-like C2-type 4.				negative regulation of B cell receptor signaling pathway (GO:0050859)|negative regulation of release of sequestered calcium ion into cytosol (GO:0051280)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)				breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	85	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)				GCAGAGTTGGCCGACCTACGC	0.572																																						ENST00000361835.3																			0				breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	85						c.(1276-1278)Gcc>Acc		Fc receptor-like 5							78	67	71					1																	157509002		2203	4300	6503	SO:0001583	missense	83416					integral to membrane|plasma membrane	receptor activity	g.chr1:157509002C>T	AF369794	CCDS1165.1	1q21	2013-01-11			ENSG00000143297	ENSG00000143297		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	18508	protein-coding gene	gene with protein product		605877				11027651, 11290337	Standard	NM_031281		Approved	FCRH5, IRTA2, BXMAS1, CD307e	uc009wsm.3	Q96RD9	OTTHUMG00000017481	ENST00000361835.3:c.1276G>A	1.37:g.157509002C>T	ENSP00000354691:p.Ala426Thr					FCRL5_ENST00000368189.3_Missense_Mutation_p.A426T|FCRL5_ENST00000356953.4_Missense_Mutation_p.A426T|FCRL5_ENST00000368191.3_Missense_Mutation_p.A341T|FCRL5_ENST00000368190.3_Missense_Mutation_p.A426T	p.A426T	NM_001195388.1|NM_031281.2	NP_001182317.1|NP_112571.2	Q96RD9	FCRL5_HUMAN			7	1433	-	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)	426			Ig-like C2-type 4.		A0N0M2|B7WNT9|B7WP94|Q495Q2|Q495Q4|Q5VYK9|Q6UY46	Missense_Mutation	SNP	ENST00000361835.3	37	c.1276G>A	CCDS1165.1	.	.	.	.	.	.	.	.	.	.	C	10.96	1.498877	0.26861	.	.	ENSG00000143297	ENST00000361835;ENST00000356953;ENST00000368190;ENST00000368191;ENST00000368189	T;T;T;T;T	0.12774	2.65;2.65;2.65;2.65;2.65	3.17	-1.43	0.08884	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.06600	0.0169	M	0.64260	1.97	0.09310	N	1	B;P;B;D;P;D	0.53312	0.302;0.935;0.257;0.959;0.537;0.959	B;P;B;P;B;P	0.47402	0.205;0.546;0.062;0.523;0.155;0.542	T	0.26883	-1.0090	9	0.26408	T	0.33	.	7.7082	0.28663	0.0:0.7254:0.0:0.2746	.	457;341;426;426;426;426	B4DW39;F5GXJ2;Q96RD9-3;A6NJE8;Q96RD9-4;Q96RD9	.;.;.;.;.;FCRL5_HUMAN	T	426;426;426;341;426	ENSP00000354691:A426T;ENSP00000349434:A426T;ENSP00000357173:A426T;ENSP00000357174:A341T;ENSP00000357172:A426T	ENSP00000349434:A426T	A	-	1	0	FCRL5	155775626	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.051000	0.03507	-0.424000	0.07382	-0.379000	0.06801	GCC		0.572	FCRL5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000046263.1	NM_031281		3	21	0	0	0	1	0	3	21					T	157509002	C	T	157509002	3	4	371	1	0	0	0	0	1	0	0	0	5798	739	26	3	1701	3	FCRL5	1	157509002	Missense_Mutation	SNP	C	TCGA-V1-A8MK-01A-11D-A364-08		157509002	91741619	1	18426											
ZIC4	84107	broad.mit.edu	37	chr3	147113841	147113841	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctgttccgggccgccgacGtgctccacggtgacgtgcgt	3	8	15	15	7	0	1	0	1	0	0	2	2	2	1	5	2	2	2	5	2	0	1			TCGA-V1-A8MK-01A-11D-A364-08	TCGA-V1-A8MK-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96303eed-b939-4980-b0c6-c64f4c0c6bf1	7f00368f-9274-4a6d-a253-193feaac3ced	g.chr3:147113841G>C	ENST00000383075.3	-	3	998	c.486C>G	c.(484-486)caC>caG	p.H162Q	ZIC4_ENST00000425731.3_Missense_Mutation_p.H200Q|ZIC4_ENST00000525172.2_Missense_Mutation_p.H212Q|ZIC4_ENST00000484399.1_Missense_Mutation_p.H162Q|ZIC4_ENST00000473123.1_Missense_Mutation_p.H162Q|ZIC4_ENST00000491672.1_Intron	NM_032153.5	NP_115529.2	Q8N9L1	ZIC4_HUMAN	Zic family member 4	162						nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(34)|upper_aerodigestive_tract(4)	57						GGCCGCCGACGTGCTCCACGG	0.602																																						ENST00000383075.3																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(34)|upper_aerodigestive_tract(4)	57						c.(484-486)caC>caG		Zic family member 4							96	106	103					3																	147113841		2203	4300	6503	SO:0001583	missense	84107					nucleus	DNA binding|zinc ion binding	g.chr3:147113841G>C	AF332509	CCDS43160.1, CCDS54652.1, CCDS54653.1, CCDS58857.1	3q24	2013-01-08	2003-02-21		ENSG00000174963	ENSG00000174963		"Zinc fingers, C2H2-type"	20393	protein-coding gene	gene with protein product		608948	"zinc finger protein of the cerebellum 4"				Standard	NM_001168378		Approved		uc011bno.2	Q8N9L1	OTTHUMG00000037281	ENST00000383075.3:c.486C>G	3.37:g.147113841G>C	ENSP00000372553:p.His162Gln					ZIC4_ENST00000491672.1_Intron|ZIC4_ENST00000425731.3_Missense_Mutation_p.H200Q|ZIC4_ENST00000484399.1_Missense_Mutation_p.H162Q|ZIC4_ENST00000525172.2_Missense_Mutation_p.H212Q|ZIC4_ENST00000473123.1_Missense_Mutation_p.H162Q	p.H162Q	NM_032153.5	NP_115529.2	Q8N9L1	ZIC4_HUMAN			3	998	-			162					A0AVA2|B2RMQ8|B4DF89|B7Z2L2|C9J7D5|J3KQG1|Q4G157|Q9BZ94	Missense_Mutation	SNP	ENST00000383075.3	37	c.486C>G	CCDS43160.1	.	.	.	.	.	.	.	.	.	.	G	23.4	4.414089	0.83449	.	.	ENSG00000174963	ENST00000383075;ENST00000425731;ENST00000525172;ENST00000484399;ENST00000473123;ENST00000462748	D;D;D;D;D;D	0.94092	-3.35;-3.35;-3.35;-3.35;-3.35;-3.04	5.2	4.33	0.51752	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);	0.000000	0.48767	D	0.000177	D	0.96800	0.8955	M	0.86805	2.84	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.97211	0.9871	10	0.87932	D	0	.	13.7036	0.62624	0.0746:0.0:0.9254:0.0	.	212;162	B7Z2L2;Q8N9L1	.;ZIC4_HUMAN	Q	162;200;212;162;162;162	ENSP00000372553:H162Q;ENSP00000397695:H200Q;ENSP00000435509:H212Q;ENSP00000417855:H162Q;ENSP00000420775:H162Q;ENSP00000420627:H162Q	ENSP00000372553:H162Q	H	-	3	2	ZIC4	148596531	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.865000	0.62998	1.196000	0.43129	0.511000	0.50034	CAC		0.602	ZIC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355504.1			5	100	0	0	0	1	0	5	100					C	147113841	G	C	147113841	3	2	371	1	0	0	0	0	1	0	0	0	17678	1136	40	5	530	5	ZIC4	3	147113841	Missense_Mutation	SNP	G	TCGA-V1-A8MK-01A-11D-A364-08		147113841	50908589	2	18427											
DSP	1832	broad.mit.edu	37	chr6	7578728	7578728	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcatgctcggtacattgaacTacttacaagatctggagact	12	12	8	9	1	2	3	1	1	1	2	3	4	2	3	0	2	5	2	0	2	5	4			TCGA-V1-A8MK-01A-11D-A364-08	TCGA-V1-A8MK-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96303eed-b939-4980-b0c6-c64f4c0c6bf1	7f00368f-9274-4a6d-a253-193feaac3ced	g.chr6:7578728T>C	ENST00000379802.3	+	22	3358	c.3017T>C	c.(3016-3018)cTa>cCa	p.L1006P	DSP_ENST00000418664.2_Missense_Mutation_p.L1006P	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	1006	Globular 1.				adherens junction organization (GO:0034332)|apoptotic process (GO:0006915)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|desmosome organization (GO:0002934)|epidermis development (GO:0008544)|intermediate filament organization (GO:0045109)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)|protein localization to adherens junction (GO:0071896)|regulation of heart rate by cardiac conduction (GO:0086091)|single organismal cell-cell adhesion (GO:0016337)|ventricular cardiac muscle cell action potential (GO:0086005)|ventricular compact myocardium morphogenesis (GO:0003223)|wound healing (GO:0042060)	basolateral plasma membrane (GO:0016323)|cornified envelope (GO:0001533)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intercalated disc (GO:0014704)|intermediate filament (GO:0005882)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|protein binding, bridging (GO:0030674)|protein kinase C binding (GO:0005080)|scaffold protein binding (GO:0097110)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		TACATTGAACTACTTACAAGA	0.358																																						ENST00000379802.3																			0				biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101						c.(3016-3018)cTa>cCa		desmoplakin							143	147	146					6																	7578728		2203	4300	6503	SO:0001583	missense	1832				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton	g.chr6:7578728T>C	J05211	CCDS4501.1, CCDS47368.1	6p24.3	2014-09-17	2003-05-20		ENSG00000096696	ENSG00000096696			3052	protein-coding gene	gene with protein product		125647	"desmoplakin (DPI, DPII)"			1889810	Standard	NM_004415		Approved	KPPS2, PPKS2, DPI, DPII	uc003mxp.1	P15924	OTTHUMG00000014212	ENST00000379802.3:c.3017T>C	6.37:g.7578728T>C	ENSP00000369129:p.Leu1006Pro					DSP_ENST00000418664.2_Missense_Mutation_p.L1006P	p.L1006P	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN		OV - Ovarian serous cystadenocarcinoma(45;0.000508)	22	3358	+	Ovarian(93;0.0584)	all_hematologic(90;0.236)	1006			Globular 1.		B2RTT2|D7RX09|O75993|Q14189|Q9UHN4	Missense_Mutation	SNP	ENST00000379802.3	37	c.3017T>C	CCDS4501.1	.	.	.	.	.	.	.	.	.	.	T	22.7	4.323232	0.81580	.	.	ENSG00000096696	ENST00000379802;ENST00000418664;ENST00000397483	T;T	0.62788	-0.0;-0.0	5.07	5.07	0.68467	.	0.000000	0.47455	D	0.000226	T	0.63450	0.2512	L	0.32530	0.975	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.85130	0.997;0.997	T	0.70321	-0.4904	10	0.87932	D	0	.	14.8323	0.70156	0.0:0.0:0.0:1.0	.	1053;1006	Q4LE79;P15924	.;DESP_HUMAN	P	1006;1006;811	ENSP00000369129:L1006P;ENSP00000396591:L1006P	ENSP00000369129:L1006P	L	+	2	0	DSP	7523727	1.000000	0.71417	0.977000	0.42913	0.998000	0.95712	7.698000	0.84413	1.918000	0.55548	0.533000	0.62120	CTA		0.358	DSP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039786.2	NM_004415		4	52	0	0	0	1	0	4	52					C	7578728	T	C	7578728	3	2	371	1	0	0	0	0	1	0	0	0	4781	1522	53	4	3103	4	DSP	6	7578728	Missense_Mutation	SNP	T	TCGA-V1-A8MK-01A-11D-A364-08		7578728	163536339	3	18428											
SYCP2L	221711	broad.mit.edu	37	chr6	10894418	10894418	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agatgaacctctgctaattcGgcagggactgatcccaaaga	13	8	10	10	1	1	4	0	2	1	2	3	5	2	5	2	2	2	2	2	2	3	2			TCGA-V1-A8MK-01A-11D-A364-08	TCGA-V1-A8MK-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96303eed-b939-4980-b0c6-c64f4c0c6bf1	7f00368f-9274-4a6d-a253-193feaac3ced	g.chr6:10894418G>A	ENST00000283141.6	+	4	613	c.317G>A	c.(316-318)cGg>cAg	p.R106Q	RP11-637O19.3_ENST00000480294.1_3'UTR|SYCP2L_ENST00000543878.1_5'UTR	NM_001040274.2	NP_001035364.2	Q5T4T6	SYC2L_HUMAN	synaptonemal complex protein 2-like	106						nucleus (GO:0005634)				breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	36	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)	Epithelial(50;0.239)			CTGCTAATTCGGCAGGGACTG	0.378																																						ENST00000283141.6																			0				breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	36						c.(316-318)cGg>cAg		synaptonemal complex protein 2-like							118	116	117					6																	10894418		1847	4095	5942	SO:0001583	missense	221711					nucleus		g.chr6:10894418G>A	AK128130	CCDS43423.1	6p24.2	2008-11-06	2007-07-02	2007-07-02	ENSG00000153157	ENSG00000153157			21537	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 177"	C6orf177			Standard	NM_001040274		Approved	dJ62D2.1, NO145	uc003mzo.3	Q5T4T6	OTTHUMG00000014250	ENST00000283141.6:c.317G>A	6.37:g.10894418G>A	ENSP00000283141:p.Arg106Gln					SYCP2L_ENST00000543878.1_5'UTR|RP11-637O19.3_ENST00000480294.1_3'UTR	p.R106Q	NM_001040274.2	NP_001035364.2	Q5T4T6	SYC2L_HUMAN	Epithelial(50;0.239)		4	613	+	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)	106					A6NDS5|Q08GK5|Q6ZRM2|Q96EJ2	Missense_Mutation	SNP	ENST00000283141.6	37	c.317G>A	CCDS43423.1	.	.	.	.	.	.	.	.	.	.	G	2.647	-0.282940	0.05642	.	.	ENSG00000153157	ENST00000283141	T	0.16457	2.34	5.43	1.68	0.24146	.	0.601453	0.15957	N	0.236460	T	0.00998	0.0033	N	0.00926	-1.1	0.80722	D	1	B	0.13594	0.008	B	0.04013	0.001	T	0.48681	-0.9014	10	0.02654	T	1	-15.4425	4.734	0.12979	0.7012:0.0:0.1578:0.141	.	106	Q5T4T6	SYC2L_HUMAN	Q	106	ENSP00000283141:R106Q	ENSP00000283141:R106Q	R	+	2	0	SYCP2L	11002404	1.000000	0.71417	0.997000	0.53966	0.526000	0.34562	1.543000	0.36147	0.341000	0.23771	-0.340000	0.08031	CGG		0.378	SYCP2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039845.3	NM_194299		6	96	0	0	0	1	0	6	96					A	10894418	G	A	10894418	3	1	371	1	0	0	0	0	1	0	0	0	15430	1116	39	2	331	2	SYCP2L	6	10894418	Missense_Mutation	SNP	G	TCGA-V1-A8MK-01A-11D-A364-08	3315690	10894418	160220649	4	18429											
POM121C	100101267	broad.mit.edu	37	chr7	75068480	75068480	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gggctcaaatgctgaatgtcCactgccactgctatcatggc	9	10	10	12	0	2	1	2	1	0	0	3	1	3	1	2	2	3	3	2	2	3	1			TCGA-V1-A8MK-01A-11D-A364-08	TCGA-V1-A8MK-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96303eed-b939-4980-b0c6-c64f4c0c6bf1	7f00368f-9274-4a6d-a253-193feaac3ced	g.chr7:75068480C>T	ENST00000257665.5	-	4	975	c.976G>A	c.(976-978)Gga>Aga	p.G326R	POM121C_ENST00000453279.2_Missense_Mutation_p.G84R|POM121C_ENST00000473168.1_5'Flank			A8CG34	P121C_HUMAN	POM121 transmembrane nucleoporin C	326	Pore side. {ECO:0000255}.|Required for targeting to the nucleus and nuclear pore complex.|Ser-rich.				mRNA transport (GO:0051028)|protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|nuclear pore (GO:0005643)				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	14						GCTGAATGTCCACTGCCACTG	0.453																																						ENST00000453279.2																			0				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	14						c.(250-252)Gga>Aga		POM121 transmembrane nucleoporin C							192	192	192					7																	75068480		2203	4300	6503	SO:0001583	missense	100101267				mRNA transport|protein transport|transmembrane transport	endoplasmic reticulum membrane|nuclear membrane|nuclear pore	protein binding	g.chr7:75068480C>T		CCDS47617.1	7q11.23	2012-03-13	2012-03-13		ENSG00000135213	ENSG00000272391			34005	protein-coding gene	gene with protein product		615754	"POM121 membrane glycoprotein C"			17900573	Standard	NM_001099415		Approved		uc003udk.4	A8CG34	OTTHUMG00000156238	ENST00000257665.5:c.976G>A	7.37:g.75068480C>T	ENSP00000257665:p.Gly326Arg					POM121C_ENST00000257665.5_Missense_Mutation_p.G326R	p.G84R	NM_001099415.1	NP_001092885.1	A8CG34	P121C_HUMAN			6	1114	-			326			Pore side (Potential).|Required for targeting to the nucleus and nuclear pore complex.		O75115|Q9Y2N3|Q9Y4S7	Missense_Mutation	SNP	ENST00000257665.5	37	c.250G>A		.	.	.	.	.	.	.	.	.	.	C	13.76	2.333126	0.41297	.	.	ENSG00000135213	ENST00000257665;ENST00000453279	T;T	0.14893	2.47;2.47	4.28	4.28	0.50868	.	0.183335	0.26404	N	0.024563	T	0.28499	0.0705	L	0.46947	1.48	0.29471	N	0.857065	D	0.89917	1.0	D	0.79108	0.992	T	0.06499	-1.0823	10	0.02654	T	1	.	14.2459	0.65988	0.0:1.0:0.0:0.0	.	326	A8CG34	P121C_HUMAN	R	326;84	ENSP00000257665:G326R;ENSP00000414208:G84R	ENSP00000257665:G326R	G	-	1	0	POM121C	74906416	1.000000	0.71417	1.000000	0.80357	0.635000	0.38103	4.024000	0.57218	2.101000	0.63845	0.505000	0.49811	GGA		0.453	POM121C-003	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000343919.2	NM_001099415		6	184	0	0	0	1	0	6	184					T	75068480	C	T	75068480	3	4	371	1	0	0	0	0	1	0	0	0	12240	603	21	3	2753	3	POM121C	7	75068480	Missense_Mutation	SNP	C	TCGA-V1-A8MK-01A-11D-A364-08		75068480	84070183	5	18430											
KRTAP5-7	440050	broad.mit.edu	37	chr11	71238615	71238615	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taaggggggctgtggttcttGtggctgctcccagtgcagct	4	12	16	9	0	1	0	0	0	1	0	2	0	2	0	1	5	3	6	1	5	1	3			TCGA-V1-A8MK-01A-11D-A364-08	TCGA-V1-A8MK-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96303eed-b939-4980-b0c6-c64f4c0c6bf1	7f00368f-9274-4a6d-a253-193feaac3ced	g.chr11:71238615G>A	ENST00000398536.4	+	1	303	c.269G>A	c.(268-270)tGt>tAt	p.C90Y		NM_001012503.1	NP_001012521.1	Q6L8G8	KRA57_HUMAN	keratin associated protein 5-7	90	7 X 4 AA repeats of C-C-X-P.					keratin filament (GO:0045095)				breast(1)|endometrium(1)|kidney(3)|lung(6)|ovary(1)	12						TGTGGTTCTTGTGgctgctcc	0.647																																						ENST00000398536.4																			0				breast(1)|endometrium(1)|kidney(3)|lung(6)|ovary(1)	12						c.(268-270)tGt>tAt		keratin associated protein 5-7							74	97	89					11																	71238615		2199	4294	6493	SO:0001583	missense	440050					keratin filament		g.chr11:71238615G>A	AB126076	CCDS41682.1	11q13.4	2008-02-05			ENSG00000244411	ENSG00000244411		"Keratin associated proteins"	23602	protein-coding gene	gene with protein product						15144888	Standard	NM_001012503		Approved	KRTAP5.7, KRTAP5-3	uc001oqq.1	Q6L8G8	OTTHUMG00000057570	ENST00000398536.4:c.269G>A	11.37:g.71238615G>A	ENSP00000417330:p.Cys90Tyr						p.C90Y	NM_001012503.1	NP_001012521.1	Q6L8G8	KRA57_HUMAN			1	303	+			90			7 X 4 AA repeats of C-C-X-P.		B2RNM3|Q701N5	Missense_Mutation	SNP	ENST00000398536.4	37	c.269G>A	CCDS41682.1	.	.	.	.	.	.	.	.	.	.	N	5.324	0.245132	0.10077	.	.	ENSG00000244411	ENST00000398536	T	0.01438	4.89	1.56	-0.879	0.10613	.	.	.	.	.	T	0.02342	0.0072	M	0.83223	2.63	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.40553	-0.9557	9	0.54805	T	0.06	.	2.6036	0.04872	0.3779:0.2657:0.3565:0.0	.	90	Q6L8G8	KRA57_HUMAN	Y	90	ENSP00000417330:C90Y	ENSP00000417330:C90Y	C	+	2	0	KRTAP5-7	70916263	1.000000	0.71417	0.000000	0.03702	0.026000	0.11368	3.535000	0.53575	-0.206000	0.10203	0.162000	0.16502	TGT		0.647	KRTAP5-7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127953.1			6	135	0	0	0	1	0	6	135					A	71238615	G	A	71238615	3	1	371	1	0	0	0	0	1	0	0	0	8566	1377	48	3	271	3	KRTAP5-7	11	71238615	Missense_Mutation	SNP	G	TCGA-V1-A8MK-01A-11D-A364-08		71238615	63767901	6	18431											
C15orf59	388135	broad.mit.edu	37	chr15	74032722	74032722	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgtgccaccattcatgaggcGgtagtcagggccagcccctg	7	7	13	14	2	2	1	2	1	0	0	2	1	2	1	5	3	2	1	5	3	1	2			TCGA-V1-A8MK-01A-11D-A364-08	TCGA-V1-A8MK-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96303eed-b939-4980-b0c6-c64f4c0c6bf1	7f00368f-9274-4a6d-a253-193feaac3ced	g.chr15:74032722G>A	ENST00000569673.1	-	3	1622	c.418C>T	c.(418-420)Cgc>Tgc	p.R140C	C15orf59_ENST00000379822.4_Missense_Mutation_p.R140C|C15orf59_ENST00000558834.1_5'UTR			Q2T9L4	CO059_HUMAN	chromosome 15 open reading frame 59	140										breast(1)|endometrium(2)|large_intestine(2)|lung(6)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						TTCATGAGGCGGTAGTCAGGG	0.647																																						ENST00000569673.1																			0				breast(1)|endometrium(2)|large_intestine(2)|lung(6)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						c.(418-420)Cgc>Tgc		chromosome 15 open reading frame 59							51	55	54					15																	74032722		2198	4297	6495	SO:0001583	missense	388135							g.chr15:74032722G>A		CCDS32289.1	15q24.1	2012-09-27			ENSG00000205363	ENSG00000205363			33753	protein-coding gene	gene with protein product							Standard	XM_005254369		Approved	MGC131524, LOC388135	uc002avy.3	Q2T9L4	OTTHUMG00000172556	ENST00000569673.1:c.418C>T	15.37:g.74032722G>A	ENSP00000457205:p.Arg140Cys					C15orf59_ENST00000558834.1_5'UTR|C15orf59_ENST00000379822.4_Missense_Mutation_p.R140C	p.R140C			Q2T9L4	CO059_HUMAN			3	1622	-			140						Missense_Mutation	SNP	ENST00000569673.1	37	c.418C>T	CCDS32289.1	.	.	.	.	.	.	.	.	.	.	G	16.50	3.140924	0.56936	.	.	ENSG00000205363	ENST00000379822	T	0.48201	0.82	5.15	4.16	0.48862	.	0.273246	0.34338	N	0.004047	T	0.43233	0.1238	L	0.51422	1.61	0.48830	D	0.999713	B	0.15930	0.015	B	0.14023	0.01	T	0.45934	-0.9227	10	0.66056	D	0.02	.	13.5856	0.61928	0.0:0.0:0.7558:0.2442	.	140	Q2T9L4	CO059_HUMAN	C	140	ENSP00000369150:R140C	ENSP00000369150:R140C	R	-	1	0	C15orf59	71819775	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	1.050000	0.30404	2.388000	0.81334	0.561000	0.74099	CGC		0.647	C15orf59-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419077.2	NM_001039614		3	63	0	0	0	1	0	3	63					A	74032722	G	A	74032722	3	1	371	1	0	0	0	0	1	0	0	0	1807	1116	39	2	467	2	C15orf59	15	74032722	Missense_Mutation	SNP	G	TCGA-V1-A8MK-01A-11D-A364-08		74032722	28498670	7	18432											
ADAMTS17	170691	broad.mit.edu	37	chr15	100594119	100594119	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	taccatcaagtgcagcggtaGtttggttggtcccttggcag	7	12	13	9	1	1	0	1	0	0	0	2	0	2	0	2	4	3	5	2	4	3	5			TCGA-V1-A8MK-01A-11D-A364-08	TCGA-V1-A8MK-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96303eed-b939-4980-b0c6-c64f4c0c6bf1	7f00368f-9274-4a6d-a253-193feaac3ced	g.chr15:100594119G>A	ENST00000268070.4	-	16	2383	c.2278C>T	c.(2278-2280)Cta>Tta	p.L760L		NM_139057.2	NP_620688.2	Q8TE56	ATS17_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 17	760	Spacer.					proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)	50	Lung NSC(78;0.00299)|all_lung(78;0.00457)|Melanoma(26;0.00571)		OV - Ovarian serous cystadenocarcinoma(32;0.0013)|LUSC - Lung squamous cell carcinoma(107;0.132)|Lung(145;0.161)	COAD - Colon adenocarcinoma(1;0.111)|all cancers(203;0.219)		TGCAGCGGTAGTTTGGTTGGT	0.527																																						ENST00000268070.4																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)	50						c.(2278-2280)Cta>Tta		ADAM metallopeptidase with thrombospondin type 1 motif, 17							302	287	292					15																	100594119		2203	4300	6503	SO:0001819	synonymous_variant	170691				proteolysis	intracellular|proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr15:100594119G>A	AJ315735	CCDS10383.1	15q24	2014-01-28	2005-08-19		ENSG00000140470	ENSG00000140470		"ADAM metallopeptidases with thrombospondin type 1 motif"	17109	protein-coding gene	gene with protein product		607511	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 17"			11867212	Standard	NM_139057		Approved	FLJ32769, FLJ16363	uc002bvv.1	Q8TE56	OTTHUMG00000149867	ENST00000268070.4:c.2278C>T	15.37:g.100594119G>A							p.L760L	NM_139057.2	NP_620688.2	Q8TE56	ATS17_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.0013)|LUSC - Lung squamous cell carcinoma(107;0.132)|Lung(145;0.161)	COAD - Colon adenocarcinoma(1;0.111)|all cancers(203;0.219)	16	2383	-	Lung NSC(78;0.00299)|all_lung(78;0.00457)|Melanoma(26;0.00571)		760			Spacer.		Q2I7G4|Q6ZN75	Silent	SNP	ENST00000268070.4	37	c.2278C>T	CCDS10383.1																																																																																				0.527	ADAMTS17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313595.1	NM_139057		6	206	0	0	0	1	0	6	206					A	100594119	G	A	100594119	2	1	371	1	0	0	0	0	0	0	0	1	262	1020	36	3		3	ADAMTS17	15	100594119	Silent	SNP	G	TCGA-V1-A8MK-01A-11D-A364-08	26561397	100594119	1937273	8	18433											
C1QTNF8	390664	broad.mit.edu	37	chr16	1143978	1143979	+	Frame_Shift_Ins	INS	-	-	C																															ggcctctgcggccctgcaggINSccccgggcgcctggcggccc																								rs142667444	byFrequency	TCGA-V1-A8MK-01A-11D-A364-08	TCGA-V1-A8MK-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96303eed-b939-4980-b0c6-c64f4c0c6bf1	7f00368f-9274-4a6d-a253-193feaac3ced	g.chr16:1143978_1143979insC	ENST00000328449.5	-	4	554_555	c.281_282insG	c.(280-282)ggcfs	p.G94fs		NM_207419.3	NP_997302.2	P60827	C1QT8_HUMAN	C1q and tumor necrosis factor related protein 8	94	Collagen-like.					collagen trimer (GO:0005581)|extracellular region (GO:0005576)				lung(2)|prostate(1)|skin(1)	4		Hepatocellular(780;0.00369)				GGCCCTGCAGGCCCCGGGCGCC	0.767													CCCC|CCCC|CCCCC|insertion	85	0.0169728	0.0613	0.0058	5008	,	,		9992	0		0	False		,,,				2504	0					ENST00000328449.5																			0				lung(2)|prostate(1)|skin(1)	4						c.(280-282)gctfs		C1q and tumor necrosis factor related protein 8				110,1786		34,42,872						0.2	0.1		dbSNP_134	3	10,4450		1,8,2221	no	frameshift	C1QTNF8	NM_207419.3		35,50,3093	A1A1,A1R,RR		0.2242,5.8017,1.888				120,6236				SO:0001589	frameshift_variant	390664					collagen		g.chr16:1143978_1143979insC	AY358832	CCDS32358.1	16p13.3	2014-08-12			ENSG00000184471	ENSG00000184471			31374	protein-coding gene	gene with protein product		614147				12975309	Standard	NM_207419		Approved	UNQ5829, CTRP8	uc010uuw.1	P60827	OTTHUMG00000167756	ENST00000328449.5:c.282dupG	16.37:g.1143982_1143982dupC	ENSP00000330426:p.Gly94fs						p.A94fs	NM_207419.3	NP_997302.2	P60827	C1QT8_HUMAN			4	554_555	-		Hepatocellular(780;0.00369)	94			Collagen-like.		B7U178	Frame_Shift_Ins	INS	ENST00000328449.5	37	c.281_282insG	CCDS32358.1																																																																																				0.767	C1QTNF8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396120.1	XM_372606		3	5						3	5	---	---	---	---	C	1143979	-	C	1143978	7	5	371	1	0	1	1	0	0	0	0	0	1969	1190	42	0	480	0	C1QTNF8	16	1143978	Frame_Shift_Ins	INS	-	TCGA-V1-A8MK-01A-11D-A364-08		1143978	89210775	9	18434											
MEFV	4210	broad.mit.edu	37	chr16	3297232	3297232	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctctgcacccgctgcttcagCgcttcagtttgtttctgggg	3	14	11	13	2	4	0	2	0	2	0	4	0	4	0	1	2	3	6	1	2	0	4			TCGA-V1-A8MK-01A-11D-A364-08	TCGA-V1-A8MK-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96303eed-b939-4980-b0c6-c64f4c0c6bf1	7f00368f-9274-4a6d-a253-193feaac3ced	g.chr16:3297232C>T	ENST00000219596.1	-	5	1410	c.1371G>A	c.(1369-1371)gcG>gcA	p.A457A	MEFV_ENST00000339854.4_Silent_p.A277A|MEFV_ENST00000536379.1_Silent_p.A246A|MEFV_ENST00000541159.1_Silent_p.A246A	NM_000243.2	NP_000234.1	O15553	MEFV_HUMAN	Mediterranean fever	457	Required for homotrimerization and induction of pyroptosomes.				inflammatory response (GO:0006954)|innate immune response (GO:0045087)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 beta production (GO:0032691)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of macrophage inflammatory protein 1 alpha production (GO:0071641)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of cysteine-type endopeptidase activity (GO:2001056)	cell projection (GO:0042995)|cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|nucleus (GO:0005634)	actin binding (GO:0003779)|zinc ion binding (GO:0008270)			NS(2)|biliary_tract(1)|breast(5)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(3)|prostate(1)|skin(6)	50						GCTGCTTCAGCGCTTCAGTTT	0.597																																						ENST00000219596.1																			0				NS(2)|biliary_tract(1)|breast(5)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(3)|prostate(1)|skin(6)	50						c.(1369-1371)gcG>gcA		Mediterranean fever	Colchicine(DB01394)						73	74	74					16																	3297232		2197	4300	6497	SO:0001819	synonymous_variant	4210				inflammatory response	cytoplasm|microtubule|microtubule associated complex|nucleus	actin binding|zinc ion binding	g.chr16:3297232C>T	AF018080	CCDS10498.1, CCDS55981.1	16p13.3	2014-09-17			ENSG00000103313	ENSG00000103313		"Tripartite motif containing / Tripartite motif containing"	6998	protein-coding gene	gene with protein product	"pyrin"	608107		MEF		9288094	Standard	NM_000243		Approved	FMF, TRIM20	uc002cun.1	O15553	OTTHUMG00000129324	ENST00000219596.1:c.1371G>A	16.37:g.3297232C>T						MEFV_ENST00000541159.1_Silent_p.A246A|MEFV_ENST00000536379.1_Silent_p.A246A|MEFV_ENST00000339854.4_Silent_p.A277A	p.A457A	NM_000243.2	NP_000234.1	O15553	MEFV_HUMAN			5	1410	-			457					D3DUC0|F5H0Q3|Q3MJ84|Q96PN4|Q96PN5	Silent	SNP	ENST00000219596.1	37	c.1371G>A	CCDS10498.1																																																																																				0.597	MEFV-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251464.1	NM_000243		6	74	0	0	0	1	0	6	74					T	3297232	C	T	3297232	2	4	371	1	0	0	0	0	0	0	0	1	9459	755	27	1		1	MEFV	16	3297232	Silent	SNP	C	TCGA-V1-A8MK-01A-11D-A364-08	2153254	3297232	87057521	10	18435											
CACNB1	782	broad.mit.edu	37	chr17	37343159	37343159	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	ccctccttcaccagccgcccGatccaccagtcattattgta	8	10	5	18	2	2	0	2	0	0	0	4	1	4	0	7	0	1	1	7	0	2	4			TCGA-V1-A8MK-01A-11D-A364-08	TCGA-V1-A8MK-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96303eed-b939-4980-b0c6-c64f4c0c6bf1	7f00368f-9274-4a6d-a253-193feaac3ced	g.chr17:37343159G>C	ENST00000394303.3	-	5	645	c.438C>G	c.(436-438)atC>atG	p.I146M	CACNB1_ENST00000344140.5_Missense_Mutation_p.I146M|CACNB1_ENST00000394310.3_Missense_Mutation_p.I146M|CACNB1_ENST00000582877.1_5'UTR	NM_000723.4	NP_000714.3	Q02641	CACB1_HUMAN	calcium channel, voltage-dependent, beta 1 subunit	146	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				axon guidance (GO:0007411)|protein targeting to membrane (GO:0006612)|transport (GO:0006810)	sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|voltage-gated calcium channel activity (GO:0005245)			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(1)	16					Dronedarone(DB04855)|Ibutilide(DB00308)|Magnesium Sulfate(DB00653)|Nimodipine(DB00393)|Spironolactone(DB00421)|Verapamil(DB00661)	CCAGCCGCCCGATCCACCAGT	0.562																																					Esophageal Squamous(5;100 366 38393 41452 45827)	ENST00000394303.3																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(1)	16						c.(436-438)atC>atG		calcium channel, voltage-dependent, beta 1 subunit	Ibutilide(DB00308)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Verapamil(DB00661)						56	54	55					17																	37343159		2203	4300	6503	SO:0001583	missense	782				axon guidance	voltage-gated calcium channel complex		g.chr17:37343159G>C		CCDS11334.1, CCDS42311.1, CCDS45665.1	17q21-q22	2013-03-20			ENSG00000067191	ENSG00000067191		"Calcium channel subunits"	1401	protein-coding gene	gene with protein product		114207		CACNLB1		8381767, 8395940	Standard	NM_000723		Approved		uc002hrm.2	Q02641	OTTHUMG00000133217	ENST00000394303.3:c.438C>G	17.37:g.37343159G>C	ENSP00000377840:p.Ile146Met					CACNB1_ENST00000344140.5_Missense_Mutation_p.I146M|CACNB1_ENST00000394310.3_Missense_Mutation_p.I146M|CACNB1_ENST00000582877.1_5'UTR	p.I146M	NM_000723.4	NP_000714.3	Q02641	CACB1_HUMAN			5	645	-			146			SH3.		A8K114|O15331|Q02639|Q02640|Q8N3X9|Q9C085|Q9UD79	Missense_Mutation	SNP	ENST00000394303.3	37	c.438C>G	CCDS42311.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.971164	0.74246	.	.	ENSG00000067191	ENST00000539338;ENST00000394303;ENST00000344140;ENST00000394310;ENST00000536613	D;D;D	0.83335	-1.71;-1.71;-1.71	5.06	-9.98	0.00438	Src homology-3 domain (3);	0.000000	0.85682	D	0.000000	D	0.86518	0.5952	M	0.87328	2.875	0.58432	D	0.999999	D;D;D;D;D	0.89917	0.995;0.999;1.0;0.995;0.999	D;D;D;D;D	0.81914	0.987;0.995;0.993;0.981;0.995	D	0.85567	0.1231	10	0.87932	D	0	-14.9066	6.3073	0.21145	0.5141:0.0:0.2147:0.2712	.	99;146;146;146;146	F5H6X1;Q6TME4;Q02641-2;Q02641-3;Q02641	.;.;.;.;CACB1_HUMAN	M	96;146;146;146;99	ENSP00000377840:I146M;ENSP00000345461:I146M;ENSP00000377847:I146M	ENSP00000345461:I146M	I	-	3	3	CACNB1	34596685	0.002000	0.14202	0.884000	0.34674	0.963000	0.63663	-1.281000	0.02802	-1.312000	0.02306	0.313000	0.20887	ATC		0.562	CACNB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256945.3			3	38	0	0	0	1	0	3	38					C	37343159	G	C	37343159	3	2	371	1	0	0	0	0	1	0	0	0	2552	1048	37	5	1662	5	CACNB1	17	37343159	Missense_Mutation	SNP	G	TCGA-V1-A8MK-01A-11D-A364-08		37343159	43852051	11	18436											
BIRC5	332	broad.mit.edu	37	chr17	76212096	76212096	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ataccagcactttgggaggcCgaggcgggcggatcacgagg	9	5	17	10	4	1	0	1	0	0	0	1	4	1	2	2	6	2	1	2	6	1	2	rs147848202		TCGA-V1-A8MK-01A-11D-A364-08	TCGA-V1-A8MK-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96303eed-b939-4980-b0c6-c64f4c0c6bf1	7f00368f-9274-4a6d-a253-193feaac3ced	g.chr17:76212096C>T	ENST00000301633.4	+	3	402	c.271C>T	c.(271-273)Cga>Tga	p.R91*	BIRC5_ENST00000374948.2_Intron|BIRC5_ENST00000350051.3_Intron|BIRC5_ENST00000592734.1_Intron|AC087645.1_ENST00000600484.1_Intron	NM_001012271.1	NP_001012271.1	O15392	BIRC5_HUMAN	baculoviral IAP repeat containing 5	74					apoptotic process (GO:0006915)|cell division (GO:0051301)|chromosome segregation (GO:0007059)|cytokinesis (GO:0000910)|establishment of chromosome localization (GO:0051303)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)|positive regulation of exit from mitosis (GO:0031536)|positive regulation of mitotic cell cycle (GO:0045931)|protein complex localization (GO:0031503)|protein phosphorylation (GO:0006468)|spindle checkpoint (GO:0031577)|transcription, DNA-templated (GO:0006351)	centriole (GO:0005814)|chromosome passenger complex (GO:0032133)|chromosome, centromeric region (GO:0000775)|condensed chromosome kinetochore (GO:0000777)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|interphase microtubule organizing center (GO:0031021)|microtubule (GO:0005874)|midbody (GO:0030496)|nuclear chromosome (GO:0000228)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)	chaperone binding (GO:0051087)|cobalt ion binding (GO:0050897)|cofactor binding (GO:0048037)|cysteine-type endopeptidase inhibitor activity (GO:0004869)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|microtubule binding (GO:0008017)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|Ran GTPase binding (GO:0008536)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)			kidney(1)|urinary_tract(1)	2			BRCA - Breast invasive adenocarcinoma(99;0.00269)|OV - Ovarian serous cystadenocarcinoma(97;0.153)			tttgggaggccgaggcgggcg	0.562																																						ENST00000301633.4																			0				kidney(1)|urinary_tract(1)	2						c.(271-273)Cga>Tga		baculoviral IAP repeat containing 5		C	,stop/ARG,	1,4405	2.1+/-5.4	0,1,2202	41	44	43		,271,		0	17	dbSNP_134	43	1,8591	1.2+/-3.3	0,1,4295	no	intron,stop-gained,intron	BIRC5	NM_001012270.1,NM_001012271.1,NM_001168.2	,,	0,2,6497	TT,TC,CC		0.0116,0.0227,0.0154	,,	,91/166,	76212096	2,12996	2203	4296	6499	SO:0001587	stop_gained	332				anti-apoptosis|apoptosis|cell division|chromosome segregation|cytokinesis|establishment of chromosome localization|G2/M transition of mitotic cell cycle|mitosis|mitotic prometaphase|positive regulation of exit from mitosis|positive regulation of mitotic cell cycle|protein complex localization|spindle checkpoint	centriole|chromosome passenger complex|chromosome, centromeric region|cytoplasm|cytoplasmic microtubule|cytosol|interphase microtubule organizing center|midbody|nuclear chromosome|spindle|spindle microtubule	caspase inhibitor activity|chaperone binding|cobalt ion binding|cofactor binding|cysteine-type endopeptidase inhibitor activity|metal ion binding|microtubule binding|protein heterodimerization activity|protein homodimerization activity|Ran GTPase binding|zinc ion binding	g.chr17:76212096C>T	U75285	CCDS11755.1, CCDS32751.1, CCDS32752.1	17q25.3	2013-01-17	2011-01-25		ENSG00000089685	ENSG00000089685		"Baculoviral IAP repeat containing"	593	protein-coding gene	gene with protein product	"survivin variant 3 alpha"	603352	"apoptosis inhibitor 4", "baculoviral IAP repeat-containing 5"	API4		8106347, 7947793	Standard	XR_243654		Approved	EPR-1, survivin	uc002jvf.3	O15392		ENST00000301633.4:c.271C>T	17.37:g.76212096C>T	ENSP00000301633:p.Arg91*					BIRC5_ENST00000350051.3_Intron|AC087645.1_ENST00000600484.1_Intron|BIRC5_ENST00000592734.1_Intron|BIRC5_ENST00000374948.2_Intron	p.R91*	NM_001012271.1	NP_001012271.1	O15392	BIRC5_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.00269)|OV - Ovarian serous cystadenocarcinoma(97;0.153)		3	402	+			74					A2SUH6|B2R4R1|Q2I3N8|Q4VGX0|Q53F61|Q5MGC6|Q6FHL2|Q75SP2|Q9P2W8	Nonsense_Mutation	SNP	ENST00000301633.4	37	c.271C>T	CCDS32752.1	.	.	.	.	.	.	.	.	.	.	C	13.26	2.184083	0.38609	2.27E-4	1.16E-4	ENSG00000089685	ENST00000301633;ENST00000432014	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.08837	T	0.75	.	.	.	.	.	.	.	.	X	91	.	ENSP00000301633:R91X	R	+	1	2	BIRC5	73723691	.	.	0.017000	0.16124	0.018000	0.09664	.	.	-1.495000	0.01831	-1.492000	0.00969	CGA		0.562	BIRC5-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000437234.3	NM_001168		3	27	0	0	0	1	0	3	27					T	76212096	C	T	76212096	4	4	371	1	0	0	0	0	0	1	0	0	1437	644	23	2	281	2	BIRC5	17	76212096	Nonsense_Mutation	SNP	C	TCGA-V1-A8MK-01A-11D-A364-08	38868937	76212096	4983114	12	18437											
RAD23A	5886	broad.mit.edu	37	chr19	13059566	13059566	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggctatgagcgagagcgggTcgtggccgccctgagagcca	7	5	18	11	4	0	3	0	2	0	2	1	5	0	3	3	3	3	1	3	3	1	1			TCGA-V1-A8MK-01A-11D-A364-08	TCGA-V1-A8MK-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96303eed-b939-4980-b0c6-c64f4c0c6bf1	7f00368f-9274-4a6d-a253-193feaac3ced	g.chr19:13059566T>C	ENST00000586534.1	+	5	600	c.539T>C	c.(538-540)gTc>gCc	p.V180A	RAD23A_ENST00000316856.3_Missense_Mutation_p.V180A|RAD23A_ENST00000592268.1_Missense_Mutation_p.V180A|RAD23A_ENST00000588826.2_3'UTR|RAD23A_ENST00000541222.1_Missense_Mutation_p.V15A			P54725	RD23A_HUMAN	RAD23 homolog A (S. cerevisiae)	180	UBA 1. {ECO:0000255|PROSITE- ProRule:PRU00212}.				nucleotide-excision repair (GO:0006289)|positive regulation of viral genome replication (GO:0045070)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032434)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|proteasome complex (GO:0000502)	damaged DNA binding (GO:0003684)|polyubiquitin binding (GO:0031593)|single-stranded DNA binding (GO:0003697)|ubiquitin-specific protease binding (GO:1990381)			central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)|skin(1)	12						CGAGAGCGGGTCGTGGCCGCC	0.632								Nucleotide excision repair (NER)																														ENST00000586534.1																			0				central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)|skin(1)	12						c.(538-540)gTc>gCc	Nucleotide excision repair (NER)	RAD23 homolog A (S. cerevisiae)							103	105	105					19																	13059566		2203	4300	6503	SO:0001583	missense	5886				interspecies interaction between organisms|nucleotide-excision repair|positive regulation of viral genome replication|proteasomal ubiquitin-dependent protein catabolic process|regulation of proteasomal ubiquitin-dependent protein catabolic process	nucleus|proteasome complex	damaged DNA binding|polyubiquitin binding|single-stranded DNA binding	g.chr19:13059566T>C		CCDS12289.1, CCDS59357.1, CCDS59358.1	19p13.2	2008-07-17	2001-11-28			ENSG00000179262			9812	protein-coding gene	gene with protein product	"RAD23, yeast homolog, A"	600061	"RAD23 (S. cerevisiae) homolog A"			7851894	Standard	NM_005053		Approved	HHR23A, MGC111083	uc002mvw.2	P54725		ENST00000586534.1:c.539T>C	19.37:g.13059566T>C	ENSP00000467024:p.Val180Ala					RAD23A_ENST00000541222.1_Missense_Mutation_p.V15A|RAD23A_ENST00000588826.2_3'UTR|RAD23A_ENST00000316856.3_Missense_Mutation_p.V180A|RAD23A_ENST00000592268.1_Missense_Mutation_p.V180A	p.V180A			P54725	RD23A_HUMAN			5	600	+			180			UBA 1.		K7ESE3|Q59EU8|Q5M7Z1	Missense_Mutation	SNP	ENST00000586534.1	37	c.539T>C	CCDS12289.1	.	.	.	.	.	.	.	.	.	.	T	23.0	4.366331	0.82463	.	.	ENSG00000179262	ENST00000316856;ENST00000541222	T;T	0.20598	2.06;2.06	4.61	4.61	0.57282	Ubiquitin-associated/translation elongation factor EF1B, N-terminal, eukaryote (2);Ubiquitin-associated/translation elongation factor EF1B, N-terminal (1);UBA-like (1);	0.000000	0.64402	D	0.000002	T	0.40145	0.1105	L	0.55743	1.74	0.58432	D	0.999999	D;P;D	0.71674	0.998;0.925;0.998	D;D;D	0.83275	0.995;0.932;0.996	T	0.13899	-1.0492	10	0.45353	T	0.12	-33.3681	12.9928	0.58630	0.0:0.0:0.0:1.0	.	180;197;180	A8K1J3;Q59EU8;P54725	.;.;RD23A_HUMAN	A	180;15	ENSP00000321365:V180A;ENSP00000438741:V15A	ENSP00000321365:V180A	V	+	2	0	RAD23A	12920566	1.000000	0.71417	0.841000	0.33234	0.996000	0.88848	7.308000	0.78929	1.715000	0.51383	0.459000	0.35465	GTC		0.632	RAD23A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000452752.1	NM_005053		5	123	0	0	0	1	0	5	123					C	13059566	T	C	13059566	3	2	371	1	0	0	0	0	1	0	0	0	12982	1667	58	4	557	4	RAD23A	19	13059566	Missense_Mutation	SNP	T	TCGA-V1-A8MK-01A-11D-A364-08		13059566	46069417	13	18438											
NCOA3	8202	broad.mit.edu	37	chr20	46279833	46279833	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atgcagcagcagcagcagcaGcaacagcagcagcagcagca	15	1	12	13	0	0	0	0	0	0	0	0	0	0	0	0	0	13	12	0	0	1	0			TCGA-V1-A8MK-01A-11D-A364-08	TCGA-V1-A8MK-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96303eed-b939-4980-b0c6-c64f4c0c6bf1	7f00368f-9274-4a6d-a253-193feaac3ced	g.chr20:46279833G>A	ENST00000371998.3	+	20	3950	c.3759G>A	c.(3757-3759)caG>caA	p.Q1253Q	NCOA3_ENST00000372004.3_Silent_p.Q1249Q|NCOA3_ENST00000341724.6_Silent_p.Q1179Q|NCOA3_ENST00000371997.3_Silent_p.Q1244Q			Q9Y6Q9	NCOA3_HUMAN	nuclear receptor coactivator 3	1253	Acetyltransferase.|Poly-Gln.				androgen receptor signaling pathway (GO:0030521)|developmental growth (GO:0048589)|histone acetylation (GO:0016573)|labyrinthine layer morphogenesis (GO:0060713)|mammary gland branching involved in thelarche (GO:0060744)|multicellular organism growth (GO:0035264)|positive regulation of gene expression (GO:0010628)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|receptor transactivation (GO:0035624)|regulation of RNA biosynthetic process (GO:2001141)|transcription, DNA-templated (GO:0006351)|vagina development (GO:0060068)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|histone acetyltransferase activity (GO:0004402)|ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nuclear hormone receptor binding (GO:0035257)|protein N-terminus binding (GO:0047485)|signal transducer activity (GO:0004871)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)			breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						agcagcagcagcaacagcagc	0.547																																						ENST00000372004.3																			0				breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						c.(3745-3747)caG>caA		nuclear receptor coactivator 3							46	53	50					20																	46279833		2202	4300	6502	SO:0001819	synonymous_variant	8202				androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleoplasm	androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding	g.chr20:46279833G>A	AF012108	CCDS13406.1, CCDS13407.1, CCDS54472.1	20q12	2011-07-01			ENSG00000124151	ENSG00000124151		"Chromatin-modifying enzymes / K-acetyltransferases", "Basic helix-loop-helix proteins"	7670	protein-coding gene	gene with protein product	"receptor-associated coactivator 3", "thyroid hormone receptor activator molecule 1"	601937				9252329, 9346901	Standard	NM_181659		Approved	RAC3, AIB1, ACTR, p/CIP, TRAM-1, CAGH16, TNRC16, KAT13B, bHLHe42, SRC-3, SRC3	uc002xtk.3	Q9Y6Q9	OTTHUMG00000033061	ENST00000371998.3:c.3759G>A	20.37:g.46279833G>A						NCOA3_ENST00000371997.3_Silent_p.Q1244Q|NCOA3_ENST00000371998.3_Silent_p.Q1253Q|NCOA3_ENST00000341724.6_Silent_p.Q1179Q	p.Q1249Q	NM_001174087.1|NM_001174088.1|NM_006534.3|NM_181659.2	NP_001167558.1|NP_001167559.1|NP_006525.2|NP_858045.1	Q9Y6Q9	NCOA3_HUMAN			20	3963	+			1253		Missing.	Acetyltransferase.|Poly-Gln.		A4LAZ5|Q0VF45|Q5JYD9|Q5JYE0|Q9BR49|Q9UPC9|Q9UPG4|Q9UPG7	Silent	SNP	ENST00000371998.3	37	c.3747G>A	CCDS13407.1																																																																																				0.547	NCOA3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080405.1	NM_006534		3	38	0	0	0	1	0	3	38					A	46279833	G	A	46279833	2	1	371	1	0	0	0	0	0	0	0	1	10230	962	34	3		3	NCOA3	20	46279833	Silent	SNP	G	TCGA-V1-A8MK-01A-11D-A364-08		46279833	16745687	14	18439											
SBF1	6305	broad.mit.edu	37	chr22	50905121	50905121	+	Frame_Shift_Del	DEL	C	C	-																															gatgacctgccggtcaccagCccccaaagagatcgtcctct																										TCGA-V1-A8MK-01A-11D-A364-08	TCGA-V1-A8MK-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96303eed-b939-4980-b0c6-c64f4c0c6bf1	7f00368f-9274-4a6d-a253-193feaac3ced	g.chr22:50905121delC	ENST00000390679.3	-	6	752	c.568delG	c.(568-570)gctfs	p.A190fs	SBF1_ENST00000348911.6_Frame_Shift_Del_p.A191fs|SBF1_ENST00000380817.3_Frame_Shift_Del_p.A190fs			O95248	MTMR5_HUMAN	SET binding factor 1	190	DENN. {ECO:0000255|PROSITE- ProRule:PRU00304}.				cell death (GO:0008219)|positive regulation of Rab GTPase activity (GO:0032851)|protein dephosphorylation (GO:0006470)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	protein tyrosine/serine/threonine phosphatase activity (GO:0008138)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(8)|large_intestine(3)|lung(18)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	43		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)		CGGTCACCAGCCCCCAAAGAG	0.637																																						ENST00000380817.2																			0				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(8)|large_intestine(3)|lung(18)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	43						c.(568-570)ctfs		SET binding factor 1							9	12	11					22																	50905121		1912	4031	5943	SO:0001589	frameshift_variant	6305				protein dephosphorylation	integral to membrane|nucleus	protein tyrosine/serine/threonine phosphatase activity	g.chr22:50905121delC	U93181	CCDS14091.1, CCDS14091.2	22q13.33	2013-01-10			ENSG00000100241	ENSG00000100241		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins", "DENN/MADD domain containing", "Pleckstrin homology (PH) domain containing"	10542	protein-coding gene	gene with protein product	"myotubularin related 5", "DENN/MADD domain containing 7A"	603560				9537414, 9736772	Standard	NM_002972		Approved	MTMR5, DENND7A	uc003blh.3	O95248	OTTHUMG00000150204	ENST00000390679.3:c.568delG	22.37:g.50905121delC	ENSP00000375097:p.Ala190fs					SBF1_ENST00000348911.6_Frame_Shift_Del_p.A191fs|SBF1_ENST00000390679.3_Frame_Shift_Del_p.A190fs	p.A190fs	NM_002972.2	NP_002963.2	O95248	MTMR5_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)	6	751	-		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)	190			DENN.		A6PVG9|O60228|Q5JXD8|Q5PPM2|Q96GR9|Q9UGB8	Frame_Shift_Del	DEL	ENST00000390679.3	37	c.568delG																																																																																					0.637	SBF1-201	KNOWN	basic	protein_coding	protein_coding				2	4						2	4	---	---	---	---	-	50905121	C	-	50905121	7	5	371	1	0	1	0	1	0	0	0	0	13858	739	26	0	5257	0	SBF1	22	50905121	Frame_Shift_Del	DEL	C	TCGA-V1-A8MK-01A-11D-A364-08		50905121	399445	15	18440											
FAM47A	158724	broad.mit.edu	37	chrX	34149302	34149302	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cccgacgagtcttgggaggcGctaggcggagacgggacact	8	5	17	11	5	1	1	0	0	1	1	1	6	1	3	1	5	0	1	1	5	1	2			TCGA-V1-A8MK-01A-11D-A364-08	TCGA-V1-A8MK-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96303eed-b939-4980-b0c6-c64f4c0c6bf1	7f00368f-9274-4a6d-a253-193feaac3ced	g.chrX:34149302G>A	ENST00000346193.3	-	1	1145	c.1094C>T	c.(1093-1095)gCg>gTg	p.A365V		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	365										NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						CTTGGGAGGCGCTAGGCGGAG	0.627																																						ENST00000346193.3																			0				NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						c.(1093-1095)gCg>gTg		family with sequence similarity 47, member A							31	33	32					X																	34149302		2199	4297	6496	SO:0001583	missense	158724							g.chrX:34149302G>A	BC026171	CCDS43926.1	Xp21.1	2004-08-09			ENSG00000185448	ENSG00000185448			29962	protein-coding gene	gene with protein product	"similar to hypothetical protein FLJ35782"					12477932	Standard	NM_203408		Approved	MGC27003	uc004ddg.3	Q5JRC9	OTTHUMG00000021339	ENST00000346193.3:c.1094C>T	X.37:g.34149302G>A	ENSP00000345029:p.Ala365Val						p.A365V	NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN			1	1145	-			365					A8K8I9|Q8TAA0	Missense_Mutation	SNP	ENST00000346193.3	37	c.1094C>T	CCDS43926.1	.	.	.	.	.	.	.	.	.	.	g	0.013	-1.639780	0.00799	.	.	ENSG00000185448	ENST00000346193	T	0.14144	2.53	0.226	-0.452	0.12205	.	.	.	.	.	T	0.07007	0.0178	N	0.22421	0.69	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.40515	-0.9559	8	0.30078	T	0.28	.	.	.	.	.	365	Q5JRC9	FA47A_HUMAN	V	365	ENSP00000345029:A365V	ENSP00000345029:A365V	A	-	2	0	FAM47A	34059223	0.007000	0.16637	0.000000	0.03702	0.000000	0.00434	-3.728000	0.00382	-4.179000	0.00067	-4.252000	0.00008	GCG		0.627	FAM47A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056205.1	NM_203408		3	24	0	0	0	1	0	3	24					A	34149302	G	A	34149302	3	1	371	1	0	0	0	0	1	0	0	0	5569	1087	38	1	1285	1	FAM47A	23	34149302	Missense_Mutation	SNP	G	TCGA-V1-A8MK-01A-11D-A364-08		34149302	121121258	16	18441											
MANEAL	149175	broad.mit.edu	37	chr1	38261411	38261411	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctgtgttgcgtctcaggcGtcctggtcctgtcctggtac	2	14	12	13	2	2	0	1	0	2	0	6	0	5	0	3	3	2	2	3	3	1	2	rs559490967		TCGA-V1-A8ML-01A-11D-A377-08	TCGA-V1-A8ML-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cec2fc20-36ef-4bd5-9496-d19a0ff4b6e1	291dc91d-9f58-4a35-8a15-ebbc601c6bdb	g.chr1:38261411G>A	ENST00000373045.6	+	2	934	c.553G>A	c.(553-555)Gtc>Atc	p.V185I	MANEAL_ENST00000525897.1_5'UTR|MANEAL_ENST00000329006.5_5'UTR|MANEAL_ENST00000397631.3_Missense_Mutation_p.V185I	NM_001113482.1	NP_001106954.1	Q5VSG8	MANEL_HUMAN	mannosidase, endo-alpha-like	185						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	hydrolase activity (GO:0016787)			endometrium(1)|large_intestine(1)|liver(1)|lung(1)|prostate(3)	7	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				CGTCTCAGGCGTCCTGGTCCT	0.542													G|||	1	0.000199681	0	0	5008	,	,		16438	0		0	False		,,,				2504	0.001					ENST00000373045.6																			0				endometrium(1)|large_intestine(1)|liver(1)|lung(1)|prostate(3)	7						c.(553-555)Gtc>Atc		mannosidase, endo-alpha-like							106	104	104					1																	38261411		2203	4300	6503	SO:0001583	missense	149175					Golgi membrane|integral to membrane	hydrolase activity	g.chr1:38261411G>A	AK055996	CCDS426.1, CCDS44110.1, CCDS44111.1	1p34.3	2008-02-05			ENSG00000185090	ENSG00000185090			26452	protein-coding gene	gene with protein product							Standard	NM_152496		Approved	FLJ31434	uc001cby.2	Q5VSG8	OTTHUMG00000004317	ENST00000373045.6:c.553G>A	1.37:g.38261411G>A	ENSP00000362136:p.Val185Ile					MANEAL_ENST00000397631.3_Missense_Mutation_p.V185I|MANEAL_ENST00000329006.5_5'UTR|MANEAL_ENST00000525897.1_5'UTR	p.V185I	NM_001113482.1	NP_001106954.1	Q5VSG8	MANEL_HUMAN			2	934	+	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)	185					Q6DD86|Q6P497|Q8N5P8|Q96G55|Q96N42	Missense_Mutation	SNP	ENST00000373045.6	37	c.553G>A	CCDS44110.1	.	.	.	.	.	.	.	.	.	.	G	34	5.393922	0.96009	.	.	ENSG00000185090	ENST00000373045;ENST00000397631;ENST00000532512	.	.	.	5.43	5.43	0.79202	.	0.000000	0.85682	D	0.000000	D	0.83677	0.5306	M	0.87180	2.865	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.81914	0.993;0.995	T	0.82323	-0.0514	9	0.30078	T	0.28	-41.03	18.1688	0.89737	0.0:0.0:1.0:0.0	.	185;185	Q5VSG8;Q5VSG8-3	MANEL_HUMAN;.	I	185;185;85	.	ENSP00000362136:V185I	V	+	1	0	MANEAL	38033998	1.000000	0.71417	0.970000	0.41538	0.929000	0.56500	7.476000	0.81055	2.722000	0.93159	0.655000	0.94253	GTC		0.542	MANEAL-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012469.2	NM_152496		17	64	0	0	0	1	0	17	64					A	38261411	G	A	38261411	3	1	372	1	0	0	0	0	1	0	0	0	9222	1145	40	1	559	1	MANEAL	1	38261411	Missense_Mutation	SNP	G	TCGA-V1-A8ML-01A-11D-A377-08		38261411	210989210	1	18442											
ASH1L	55870	broad.mit.edu	37	chr1	155349888	155349889	+	Frame_Shift_Ins	INS	-	-	T																															gaagctggaagtcaattctcINSttttgtcttagatactttcc																										TCGA-V1-A8ML-01A-11D-A377-08	TCGA-V1-A8ML-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cec2fc20-36ef-4bd5-9496-d19a0ff4b6e1	291dc91d-9f58-4a35-8a15-ebbc601c6bdb	g.chr1:155349888_155349889insT	ENST00000368346.3	-	8	6776_6777	c.6137_6138insA	c.(6136-6138)aagfs	p.K2046fs	ASH1L_ENST00000392403.3_Frame_Shift_Ins_p.K2041fs			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	2046					cell-cell signaling (GO:0007267)|DNA packaging (GO:0006323)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|tight junction (GO:0005923)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			AGTCAATTCTCTTTTGTCTTAG	0.347																																						ENST00000368346.3																			0				autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124						c.(6136-6138)aagfs		ash1 (absent, small, or homeotic)-like (Drosophila)																																				SO:0001589	frameshift_variant	55870				cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|Golgi apparatus|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding	g.chr1:155349888_155349889insT	AB037841	CCDS1113.2	1q22	2013-01-28			ENSG00000116539	ENSG00000116539		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	19088	protein-coding gene	gene with protein product		607999				10860993, 16545939	Standard	NM_018489		Approved	huASH1, ASH1, ASH1L1, KMT2H	uc001fkt.3	Q9NR48	OTTHUMG00000014011	ENST00000368346.3:c.6138dupA	1.37:g.155349892_155349892dupT	ENSP00000357330:p.Lys2046fs					ASH1L_ENST00000392403.3_Frame_Shift_Ins_p.K2041fs	p.K2046fs			Q9NR48	ASH1L_HUMAN	Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)		8	6776_6777	-	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		2046					Q59GP1|Q5T714|Q5T715|Q9P2C7	Frame_Shift_Ins	INS	ENST00000368346.3	37	c.6137_6138insA																																																																																					0.347	ASH1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000039400.1	NM_018489		11	74						11	74	---	---	---	---	T	155349889	-	T	155349888	7	5	372	1	0	1	1	0	0	0	0	0	1041	912	32	0	2855	0	ASH1L	1	155349888	Frame_Shift_Ins	INS	-	TCGA-V1-A8ML-01A-11D-A377-08	117088477	155349888	93900733	2	18443											
CAD	790	broad.mit.edu	37	chr2	27445189	27445189	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatgcccgccccctggtaccAgaggtctccattaaggtaca	10	8	9	14	1	1	1	0	0	1	1	2	1	1	1	5	3	3	2	5	3	4	3			TCGA-V1-A8ML-01A-11D-A377-08	TCGA-V1-A8ML-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cec2fc20-36ef-4bd5-9496-d19a0ff4b6e1	291dc91d-9f58-4a35-8a15-ebbc601c6bdb	g.chr2:27445189A>G	ENST00000403525.1	+	4	624	c.480A>G	c.(478-480)ccA>ccG	p.P160P	CAD_ENST00000264705.4_Silent_p.P160P			O76075	DFFB_HUMAN	carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase	0					apoptotic chromosome condensation (GO:0030263)|apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|brain development (GO:0007420)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)	cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	deoxyribonuclease activity (GO:0004536)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)			NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCCTGGTACCAGAGGTCTCCA	0.542																																						ENST00000264705.4																			0				NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92						c.(478-480)ccA>ccG		carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase	L-Aspartic Acid(DB00128)|L-Glutamine(DB00130)						57	61	60					2																	27445189		2203	4300	6503	SO:0001819	synonymous_variant	790				'de novo' pyrimidine base biosynthetic process|drug metabolic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process	cytosol|neuronal cell body|nuclear matrix|terminal button	aspartate binding|aspartate carbamoyltransferase activity|ATP binding|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|identical protein binding|metal ion binding|protein kinase activity	g.chr2:27445189A>G	D78586	CCDS1742.1	2p22-p21	2012-10-02			ENSG00000084774	ENSG00000084774	2.1.3.2, 3.5.2.-		1424	protein-coding gene	gene with protein product		114010				8619816, 2565865	Standard	NM_004341		Approved		uc002rji.3	P27708	OTTHUMG00000097070	ENST00000403525.1:c.480A>G	2.37:g.27445189A>G						CAD_ENST00000403525.1_Silent_p.P160P	p.P160P	NM_004341.3	NP_004332.2	P27708	PYR1_HUMAN			4	642	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		160			GATase (Glutamine amidotransferase).		O60521|Q5SR22|Q9BYI4|Q9BYI5|Q9BYI6	Silent	SNP	ENST00000403525.1	37	c.480A>G																																																																																					0.542	CAD-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000324970.1			10	53	0	0	0	1	0	10	53					G	27445189	A	G	27445189	2	3	372	1	0	0	0	0	0	0	0	1	2565	175	7	4		4	CAD	2	27445189	Silent	SNP	A	TCGA-V1-A8ML-01A-11D-A377-08		27445189	215754184	3	18444											
FSIP2	401024	broad.mit.edu	37	chr2	186671327	186671327	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	agaggagattaaaagtgaacCcagtaaaccagatgatcctc	17	7	9	8	0	0	5	0	2	0	3	2	6	1	5	3	1	2	1	3	1	5	2			TCGA-V1-A8ML-01A-11D-A377-08	TCGA-V1-A8ML-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cec2fc20-36ef-4bd5-9496-d19a0ff4b6e1	291dc91d-9f58-4a35-8a15-ebbc601c6bdb	g.chr2:186671327C>T	ENST00000424728.1	+	17	17294	c.17294C>T	c.(17293-17295)cCc>cTc	p.P5765L	FSIP2_ENST00000343098.5_Missense_Mutation_p.P5854L			Q5CZC0	FSIP2_HUMAN	fibrous sheath interacting protein 2	5765										NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						AAAAGTGAACCCAGTAAACCA	0.343																																						ENST00000343098.5																			0				NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						c.(17560-17562)cCc>cTc		fibrous sheath interacting protein 2							76	71	72					2																	186671327		1810	4066	5876	SO:0001583	missense	401024							g.chr2:186671327C>T	AK092099	CCDS54426.1	2q32.1	2010-06-18			ENSG00000188738	ENSG00000188738			21675	protein-coding gene	gene with protein product		615796				14702039	Standard	NM_173651		Approved	FLJ34780	uc002upl.3	Q5CZC0	OTTHUMG00000153874	ENST00000424728.1:c.17294C>T	2.37:g.186671327C>T	ENSP00000401306:p.Pro5765Leu					FSIP2_ENST00000424728.1_Missense_Mutation_p.P5765L	p.P5854L	NM_173651.2	NP_775922.2					17	17561	+								Q53TL3|Q53TN5|Q5HYH2|Q6ZTZ5|Q6ZU14|Q6ZU21	Missense_Mutation	SNP	ENST00000424728.1	37	c.17561C>T		.	.	.	.	.	.	.	.	.	.	C	13.20	2.166685	0.38217	.	.	ENSG00000188738	ENST00000343098;ENST00000424728	T;T	0.56941	0.43;0.44	5.06	3.25	0.37280	.	.	.	.	.	T	0.43500	0.1250	L	0.29908	0.895	0.09310	N	1	.	.	.	.	.	.	T	0.33471	-0.9867	7	0.49607	T	0.09	.	7.6852	0.28536	0.0:0.8082:0.0:0.1918	.	.	.	.	L	5854;5765	ENSP00000344403:P5854L;ENSP00000401306:P5765L	ENSP00000344403:P5854L	P	+	2	0	FSIP2	186379572	0.004000	0.15560	0.001000	0.08648	0.339000	0.28857	1.956000	0.40382	0.707000	0.31934	0.591000	0.81541	CCC		0.343	FSIP2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000332778.3	NM_173651		3	62	0	0	0	1	0	3	62					T	186671327	C	T	186671327	3	4	372	1	0	0	0	0	1	0	0	0	6075	623	22	3	17627	3	FSIP2	2	186671327	Missense_Mutation	SNP	C	TCGA-V1-A8ML-01A-11D-A377-08	159226138	186671327	56528046	4	18445											
FRYL	285527	broad.mit.edu	37	chr4	48567706	48567706	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaaaatacttcttctctggtGcactgtgaataaaaaaagat	17	12	6	6	0	2	2	0	1	2	1	3	2	2	2	0	1	2	1	0	1	8	4			TCGA-V1-A8ML-01A-11D-A377-08	TCGA-V1-A8ML-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cec2fc20-36ef-4bd5-9496-d19a0ff4b6e1	291dc91d-9f58-4a35-8a15-ebbc601c6bdb	g.chr4:48567706G>A	ENST00000503238.1	-	26	3171	c.3172C>T	c.(3172-3174)Cac>Tac	p.H1058Y	FRYL_ENST00000507711.1_Missense_Mutation_p.H1058Y|FRYL_ENST00000358350.4_Missense_Mutation_p.H1058Y|FRYL_ENST00000537810.1_Missense_Mutation_p.H1058Y|FRYL_ENST00000264319.7_5'UTR			O94915	FRYL_HUMAN	FRY-like	1058					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)					breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						CTTCTCTGGTGCACTGTGAAT	0.338																																						ENST00000537810.1																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						c.(3172-3174)Cac>Tac		FRY-like							81	75	77					4																	48567706		1836	4084	5920	SO:0001583	missense	285527				regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding	g.chr4:48567706G>A	AL833170	CCDS43227.1	4p12	2011-08-03	2006-11-17	2005-11-24	ENSG00000075539	ENSG00000075539			29127	protein-coding gene	gene with protein product			"KIAA0826", "furry homolog-like (Drosophila)"	KIAA0826		10048485	Standard	NM_015030		Approved	DKFZp686E205	uc003gyh.1	O94915	OTTHUMG00000160608	ENST00000503238.1:c.3172C>T	4.37:g.48567706G>A	ENSP00000426064:p.His1058Tyr					FRYL_ENST00000503238.1_Missense_Mutation_p.H1058Y|FRYL_ENST00000507711.1_Missense_Mutation_p.H1058Y|FRYL_ENST00000264319.7_5'UTR|FRYL_ENST00000358350.4_Missense_Mutation_p.H1058Y	p.H1058Y			O94915	FRYL_HUMAN			29	3776	-			1058					O95640|Q8WTZ5|Q9NT40	Missense_Mutation	SNP	ENST00000503238.1	37	c.3172C>T	CCDS43227.1	.	.	.	.	.	.	.	.	.	.	G	19.21	3.783145	0.70222	.	.	ENSG00000075539	ENST00000503238;ENST00000358350;ENST00000537810;ENST00000507711	T;T;T;T	0.04758	3.56;3.56;3.56;3.56	6.08	6.08	0.98989	Armadillo-type fold (1);	0.130932	0.51477	U	0.000100	T	0.06188	0.0160	N	0.22421	0.69	0.80722	D	1	P;P	0.43662	0.566;0.814	B;B	0.40410	0.209;0.328	T	0.36432	-0.9748	10	0.51188	T	0.08	.	20.6721	0.99693	0.0:0.0:1.0:0.0	.	1058;1058	F2Z2S2;O94915	.;FRYL_HUMAN	Y	1058	ENSP00000426064:H1058Y;ENSP00000351113:H1058Y;ENSP00000441114:H1058Y;ENSP00000421584:H1058Y	ENSP00000351113:H1058Y	H	-	1	0	FRYL	48262463	1.000000	0.71417	1.000000	0.80357	0.752000	0.42762	5.458000	0.66679	2.894000	0.99253	0.591000	0.81541	CAC		0.338	FRYL-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000369265.2			5	42	0	0	0	1	0	5	42					A	48567706	G	A	48567706	3	1	372	1	0	0	0	0	1	0	0	0	6064	1319	46	3	6013	3	FRYL	4	48567706	Missense_Mutation	SNP	G	TCGA-V1-A8ML-01A-11D-A377-08		48567706	142586570	5	18446											
AKAP12	9590	broad.mit.edu	37	chr6	151671704	151671704	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacaaagagacggggacagaCgggatccttgctggttccca	11	6	14	10	2	0	2	0	0	0	2	2	6	2	4	2	4	1	2	2	4	1	2			TCGA-V1-A8ML-01A-11D-A377-08	TCGA-V1-A8ML-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cec2fc20-36ef-4bd5-9496-d19a0ff4b6e1	291dc91d-9f58-4a35-8a15-ebbc601c6bdb	g.chr6:151671704C>T	ENST00000253332.1	+	3	2367	c.2178C>T	c.(2176-2178)gaC>gaT	p.D726D	AKAP12_ENST00000359755.5_Silent_p.D621D|AKAP12_ENST00000402676.2_Silent_p.D726D|AKAP12_ENST00000354675.6_Silent_p.D628D			Q02952	AKA12_HUMAN	A kinase (PRKA) anchor protein 12	726					G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of protein kinase A signaling (GO:0010739)|protein targeting (GO:0006605)|regulation of protein kinase C signaling (GO:0090036)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)	adenylate cyclase binding (GO:0008179)|protein kinase A binding (GO:0051018)			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	68		Ovarian(120;0.125)	BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.98e-11)		CGGGGACAGACGGGATCCTTG	0.587																																					Melanoma(141;1616 1805 10049 24534 51979)	ENST00000402676.2																			0				breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	68						c.(2176-2178)gaC>gaT		A kinase (PRKA) anchor protein 12							101	110	107					6																	151671704		2203	4300	6503	SO:0001819	synonymous_variant	9590				G-protein coupled receptor protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of protein kinase A signaling cascade|protein targeting	cell cortex|cytoskeleton|plasma membrane	adenylate cyclase binding|protein kinase A binding	g.chr6:151671704C>T	U81607	CCDS5229.1, CCDS5230.1	6q24-q25	2011-07-01	2008-08-29		ENSG00000131016	ENSG00000131016		"A-kinase anchor proteins"	370	protein-coding gene	gene with protein product	"gravin", "Src-Suppressed C Kinase Substrate"	604698	"A kinase (PRKA) anchor protein (gravin) 12"			9000000	Standard	NM_144497		Approved	AKAP250, SSeCKS	uc011eep.2	Q02952	OTTHUMG00000015833	ENST00000253332.1:c.2178C>T	6.37:g.151671704C>T						AKAP12_ENST00000253332.1_Silent_p.D726D|AKAP12_ENST00000354675.6_Silent_p.D628D|AKAP12_ENST00000359755.5_Silent_p.D621D	p.D726D	NM_005100.3	NP_005091.2	Q02952	AKA12_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.98e-11)	4	2418	+		Ovarian(120;0.125)	726					O00310|O00498|Q4LE68|Q5SZ80|Q5TGN1|Q68D82|Q99970	Silent	SNP	ENST00000253332.1	37	c.2178C>T	CCDS5229.1																																																																																				0.587	AKAP12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042712.1			19	90	0	0	0	1	0	19	90					T	151671704	C	T	151671704	2	4	372	1	0	0	0	0	0	0	0	1	448	535	19	1		1	AKAP12	6	151671704	Silent	SNP	C	TCGA-V1-A8ML-01A-11D-A377-08		151671704	19443363	6	18447											
PRPS1L1	221823	broad.mit.edu	37	chr7	18067087	18067087	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgcaacaagcttggcagagaTtggggaccggctcttatcct	9	10	12	10	1	1	1	0	0	1	1	2	3	2	2	2	4	3	4	2	4	3	3	rs376402121		TCGA-V1-A8ML-01A-11D-A377-08	TCGA-V1-A8ML-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cec2fc20-36ef-4bd5-9496-d19a0ff4b6e1	291dc91d-9f58-4a35-8a15-ebbc601c6bdb	g.chr7:18067087T>C	ENST00000506618.2	-	1	399	c.319A>G	c.(319-321)Atc>Gtc	p.I107V		NM_175886.2	NP_787082	P21108	PRPS3_HUMAN	phosphoribosyl pyrophosphate synthetase 1-like 1	107					5-phosphoribose 1-diphosphate biosynthetic process (GO:0006015)|nucleotide biosynthetic process (GO:0009165)|ribonucleoside monophosphate biosynthetic process (GO:0009156)		ATP binding (GO:0005524)|kinase activity (GO:0016301)|magnesium ion binding (GO:0000287)|protein homodimerization activity (GO:0042803)|ribose phosphate diphosphokinase activity (GO:0004749)			endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(3)	18	Lung NSC(10;0.0385)|all_lung(11;0.0736)					TTGGCAGAGATTGGGGACCGG	0.463																																						ENST00000506618.2																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(3)	18						c.(319-321)Atc>Gtc		phosphoribosyl pyrophosphate synthetase 1-like 1		T	VAL/ILE	1,4405	2.1+/-5.4	0,1,2202	145	148	147		319	4.5	0.5	7		147	0,8600		0,0,4300	no	missense	PRPS1L1	NM_175886.2	29	0,1,6502	CC,CT,TT		0.0,0.0227,0.0077	benign	107/319	18067087	1,13005	2203	4300	6503	SO:0001583	missense	221823				nucleoside metabolic process|ribonucleoside monophosphate biosynthetic process		ATP binding|kinase activity|magnesium ion binding|protein homodimerization activity|ribose phosphate diphosphokinase activity	g.chr7:18067087T>C	M57423	CCDS47552.1	7p21.1	2010-12-10			ENSG00000229937	ENSG00000229937			9463	protein-coding gene	gene with protein product		611566		PRPSL		2168892	Standard	NM_175886		Approved	PRPS3	uc003stz.3	P21108	OTTHUMG00000152742	ENST00000506618.2:c.319A>G	7.37:g.18067087T>C	ENSP00000424595:p.Ile107Val						p.I107V	NM_175886.2	NP_787082.1	P21108	PRPS3_HUMAN			1	399	-	Lung NSC(10;0.0385)|all_lung(11;0.0736)		107					Q6P5P6	Missense_Mutation	SNP	ENST00000506618.2	37	c.319A>G	CCDS47552.1	.	.	.	.	.	.	.	.	.	.	T	15.27	2.784786	0.49997	2.27E-4	0.0	ENSG00000229937	ENST00000506618	D	0.92699	-3.09	4.47	4.47	0.54385	.	.	.	.	.	D	0.94182	0.8133	M	0.73962	2.25	.	.	.	B	0.28055	0.199	P	0.46275	0.51	D	0.96505	0.9374	8	0.87932	D	0	.	12.0361	0.53425	0.0:0.0:0.0:1.0	.	107	P21108	PRPS3_HUMAN	V	107	ENSP00000424595:I107V	ENSP00000424595:I107V	I	-	1	0	PRPS1L1	18033612	1.000000	0.71417	0.454000	0.27019	0.835000	0.47333	5.212000	0.65225	2.014000	0.59158	0.528000	0.53228	ATC		0.463	PRPS1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327667.1	NM_175886		4	118	0	0	0	1	0	4	118					C	18067087	T	C	18067087	3	2	372	1	0	0	0	0	1	0	0	0	12579	1493	52	4	641	4	PRPS1L1	7	18067087	Missense_Mutation	SNP	T	TCGA-V1-A8ML-01A-11D-A377-08		18067087	141071576	7	18448											
KIAA1984	84960	broad.mit.edu	37	chr9	139700688	139700688	+	Frame_Shift_Del	DEL	C	C	-																															cgccagaagcctagctccatCaggtgccccgggcttccggg																										TCGA-V1-A8ML-01A-11D-A377-08	TCGA-V1-A8ML-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cec2fc20-36ef-4bd5-9496-d19a0ff4b6e1	291dc91d-9f58-4a35-8a15-ebbc601c6bdb	g.chr9:139700688delC	ENST00000338005.6	+	10	1142	c.1107delC	c.(1105-1107)atcfs	p.I369fs	RP11-216L13.18_ENST00000471502.1_RNA|RABL6_ENST00000311502.7_5'Flank|RABL6_ENST00000357466.2_5'Flank|RABL6_ENST00000371663.4_5'Flank|KIAA1984-AS1_ENST00000414656.1_RNA|KIAA1984_ENST00000371682.3_3'UTR|RABL6_ENST00000371671.4_5'Flank|RP11-216L13.19_ENST00000415992.1_RNA	NM_001039374.4	NP_001034463.4	Q5T5S1	CC183_HUMAN		369										biliary_tract(1)|breast(1)|endometrium(1)|kidney(2)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	13	all_cancers(76;0.0882)|all_epithelial(76;0.228)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;9.33e-06)|Epithelial(140;0.000124)		CTAGCTCCATCAGGTGCCCCG	0.672																																						ENST00000338005.6																			0				biliary_tract(1)|breast(1)|endometrium(1)|kidney(2)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	13						c.(1105-1107)atfs		KIAA1984							19	25	23					9																	139700688		1952	4150	6102	SO:0001589	frameshift_variant	84960							g.chr9:139700688delC																												ENST00000338005.6:c.1107delC	9.37:g.139700688delC	ENSP00000338013:p.Ile369fs					KIAA1984_ENST00000371682.3_3'UTR|KIAA1984-AS1_ENST00000414656.1_RNA	p.I369fs	NM_001039374.4	NP_001034463.4	Q5T5S1	K1984_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;9.33e-06)|Epithelial(140;0.000124)	10	1142	+	all_cancers(76;0.0882)|all_epithelial(76;0.228)	Myeloproliferative disorder(178;0.0511)	369					B2RP89|C9JD38|Q6P2D9|Q8NAI4|Q8TF18	Frame_Shift_Del	DEL	ENST00000338005.6	37	c.1107delC	CCDS43906.1																																																																																				0.672	KIAA1984-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354899.1			2	4						2	4	---	---	---	---	-	139700688	C	-	139700688	7	5	372	1	0	1	0	1	0	0	0	0	8266	816	29	0	1145	0	KIAA1984	9	139700688	Frame_Shift_Del	DEL	C	TCGA-V1-A8ML-01A-11D-A377-08		139700688	1512743	8	18449											
NCOA4	8031	broad.mit.edu	37	chr10	51584630	51584630	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgtagacttcttccagagcCtgcaatttcttcaataatgt	10	15	7	9	0	3	2	1	0	2	2	4	2	4	2	2	0	2	2	2	0	4	6			TCGA-V1-A8ML-01A-11D-A377-08	TCGA-V1-A8ML-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cec2fc20-36ef-4bd5-9496-d19a0ff4b6e1	291dc91d-9f58-4a35-8a15-ebbc601c6bdb	g.chr10:51584630C>G	ENST00000443446.1	+	8	958	c.729C>G	c.(727-729)gcC>gcG	p.A243A	NCOA4_ENST00000430396.2_Silent_p.A143A|NCOA4_ENST00000438493.1_Silent_p.A259A|NCOA4_ENST00000498586.1_3'UTR|NCOA4_ENST00000452682.1_Silent_p.A259A|NCOA4_ENST00000374087.4_Silent_p.A243A|NCOA4_ENST00000374082.1_Silent_p.A243A|NCOA4_ENST00000344348.6_Silent_p.A243A|NCOA4_ENST00000414907.2_Silent_p.A77A	NM_001145262.1	NP_001138734.1	Q13772	NCOA4_HUMAN	nuclear receptor coactivator 4	243					androgen receptor signaling pathway (GO:0030521)|male gonad development (GO:0008584)|positive regulation of transcription, DNA-templated (GO:0045893)|response to hormone (GO:0009725)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|transcription coactivator activity (GO:0003713)			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|skin(1)	5						CTTCCAGAGCCTGCAATTTCT	0.383			T	RET	papillary thyroid																																	ENST00000452682.1				Dom	yes		10	10q11.2	8031	T	nuclear receptor coactivator 4 - PTC3 (ELE1)			E	RET		papillary thyroid		0				NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|skin(1)	5						c.(775-777)gcC>gcG		nuclear receptor coactivator 4							51	55	54					10																	51584630		2203	4300	6503	SO:0001819	synonymous_variant	8031				androgen receptor signaling pathway|male gonad development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	androgen receptor binding|transcription coactivator activity	g.chr10:51584630C>G	L49399	CCDS73092.1, CCDS73093.1, CCDS73094.1	10q11.2	2014-04-10			ENSG00000138293	ENSG00000266412			7671	protein-coding gene	gene with protein product	"RET-activating gene ELE1"	601984				8290261, 8643607, 24695223	Standard	NM_001145260		Approved	ARA70, RFG, ELE1, PTC3, DKFZp762E1112	uc009xon.3	Q13772	OTTHUMG00000188314	ENST00000443446.1:c.729C>G	10.37:g.51584630C>G						NCOA4_ENST00000374082.1_Silent_p.A243A|NCOA4_ENST00000443446.1_Silent_p.A243A|NCOA4_ENST00000498586.1_3'UTR|NCOA4_ENST00000344348.6_Silent_p.A243A|NCOA4_ENST00000374087.4_Silent_p.A243A|NCOA4_ENST00000414907.2_Silent_p.A77A|NCOA4_ENST00000430396.2_Silent_p.A143A|NCOA4_ENST00000438493.1_Silent_p.A259A	p.A259A	NM_001145260.1	NP_001138732.1	Q13772	NCOA4_HUMAN			9	1029	+			243					A8K8W5|B4E260|E9PAV7|J3KQN8|Q14239	Silent	SNP	ENST00000443446.1	37	c.777C>G	CCDS7237.1	.	.	.	.	.	.	.	.	.	.	C	0.329	-0.957073	0.02267	.	.	ENSG00000138293	ENST00000431200	.	.	.	6.03	4.16	0.48862	.	.	.	.	.	T	0.37293	0.0998	.	.	.	0.19945	N	0.999948	.	.	.	.	.	.	T	0.20638	-1.0269	4	.	.	.	-16.3573	9.3449	0.38102	0.0:0.652:0.2759:0.0721	.	.	.	.	V	159	.	.	L	+	1	2	NCOA4	51254636	0.278000	0.24230	0.024000	0.17045	0.354000	0.29330	0.226000	0.17776	1.536000	0.49237	0.655000	0.94253	CTG		0.383	NCOA4-204	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048052.1	NM_005437		9	92	0	0	0	1	0	9	92					G	51584630	C	G	51584630	2	3	372	1	0	0	0	0	0	0	0	1	10231	668	24	5		5	NCOA4	10	51584630	Silent	SNP	C	TCGA-V1-A8ML-01A-11D-A377-08		51584630	83950117	9	18450			1	40		2	2	72	C		4.357596e-05
NCOA4	8031	broad.mit.edu	37	chr10	51584701	51584701	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gctcctcaagagtgaaaaatCaagttatcaaaagtgtaaca	18	9	7	7	0	3	2	3	1	0	1	4	2	4	2	1	0	1	3	1	0	8	2			TCGA-V1-A8ML-01A-11D-A377-08	TCGA-V1-A8ML-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cec2fc20-36ef-4bd5-9496-d19a0ff4b6e1	291dc91d-9f58-4a35-8a15-ebbc601c6bdb	g.chr10:51584701C>G	ENST00000443446.1	+	8	1029	c.800C>G	c.(799-801)tCa>tGa	p.S267*	NCOA4_ENST00000430396.2_Nonsense_Mutation_p.S167*|NCOA4_ENST00000438493.1_Nonsense_Mutation_p.S283*|NCOA4_ENST00000498586.1_3'UTR|NCOA4_ENST00000452682.1_Nonsense_Mutation_p.S283*|NCOA4_ENST00000374087.4_Nonsense_Mutation_p.S267*|NCOA4_ENST00000374082.1_Nonsense_Mutation_p.S267*|NCOA4_ENST00000344348.6_Nonsense_Mutation_p.S267*|NCOA4_ENST00000414907.2_Nonsense_Mutation_p.S101*	NM_001145262.1	NP_001138734.1	Q13772	NCOA4_HUMAN	nuclear receptor coactivator 4	267					androgen receptor signaling pathway (GO:0030521)|male gonad development (GO:0008584)|positive regulation of transcription, DNA-templated (GO:0045893)|response to hormone (GO:0009725)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|transcription coactivator activity (GO:0003713)			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|skin(1)	5						AGTGAAAAATCAAGTTATCAA	0.403			T	RET	papillary thyroid																																	ENST00000452682.1				Dom	yes		10	10q11.2	8031	T	nuclear receptor coactivator 4 - PTC3 (ELE1)			E	RET		papillary thyroid		0				NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|skin(1)	5						c.(847-849)tCa>tGa		nuclear receptor coactivator 4							70	73	72					10																	51584701		2203	4300	6503	SO:0001587	stop_gained	8031				androgen receptor signaling pathway|male gonad development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	androgen receptor binding|transcription coactivator activity	g.chr10:51584701C>G	L49399	CCDS73092.1, CCDS73093.1, CCDS73094.1	10q11.2	2014-04-10			ENSG00000138293	ENSG00000266412			7671	protein-coding gene	gene with protein product	"RET-activating gene ELE1"	601984				8290261, 8643607, 24695223	Standard	NM_001145260		Approved	ARA70, RFG, ELE1, PTC3, DKFZp762E1112	uc009xon.3	Q13772	OTTHUMG00000188314	ENST00000443446.1:c.800C>G	10.37:g.51584701C>G	ENSP00000390713:p.Ser267*					NCOA4_ENST00000374082.1_Nonsense_Mutation_p.S267*|NCOA4_ENST00000443446.1_Nonsense_Mutation_p.S267*|NCOA4_ENST00000498586.1_3'UTR|NCOA4_ENST00000344348.6_Nonsense_Mutation_p.S267*|NCOA4_ENST00000374087.4_Nonsense_Mutation_p.S267*|NCOA4_ENST00000414907.2_Nonsense_Mutation_p.S101*|NCOA4_ENST00000430396.2_Nonsense_Mutation_p.S167*|NCOA4_ENST00000438493.1_Nonsense_Mutation_p.S283*	p.S283*	NM_001145260.1	NP_001138732.1	Q13772	NCOA4_HUMAN			9	1100	+			267					A8K8W5|B4E260|E9PAV7|J3KQN8|Q14239	Nonsense_Mutation	SNP	ENST00000443446.1	37	c.848C>G	CCDS7237.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.1|21.1	4.098643|4.098643	0.76870|0.76870	.|.	.|.	ENSG00000138293|ENSG00000138293	ENST00000431200|ENST00000438493;ENST00000452682;ENST00000430396;ENST00000374087;ENST00000414907;ENST00000344348;ENST00000374082;ENST00000443446	.|.	.|.	.|.	6.03|6.03	3.01|3.01	0.34805|0.34805	.|.	.|0.540509	.|0.21291	.|N	.|0.076974	T|.	0.41650|.	0.1168|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.50717|.	-0.8795|.	3|.	.|0.26408	.|T	.|0.33	-18.5738|-18.5738	8.2799|8.2799	0.31894|0.31894	0.0:0.6721:0.1278:0.2001|0.0:0.6721:0.1278:0.2001	.|.	.|.	.|.	.|.	M|X	182|283;283;167;267;101;267;267;267	.|.	.|ENSP00000344552:S267X	I|S	+|+	3|2	3|0	NCOA4|NCOA4	51254707|51254707	0.002000|0.002000	0.14202|0.14202	0.991000|0.991000	0.47740|0.47740	0.985000|0.985000	0.73830|0.73830	1.171000|1.171000	0.31896|0.31896	0.893000|0.893000	0.36288|0.36288	0.655000|0.655000	0.94253|0.94253	ATC|TCA		0.403	NCOA4-204	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048052.1	NM_005437		13	119	0	0	0	1	0	13	119					G	51584701	C	G	51584701	4	3	372	1	0	0	0	0	0	1	0	0	10231	838	29	5	878	5	NCOA4	10	51584701	Nonsense_Mutation	SNP	C	TCGA-V1-A8ML-01A-11D-A377-08	71	51584701	83950046	10	18451			1	40		2	2	72	C		4.357596e-05
FAM13C	220965	broad.mit.edu	37	chr10	61011334	61011334	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	aatctctctgccgacacataCcttcctgtttgtttaaaaaa	12	14	4	11	1	2	0	0	0	2	0	4	1	3	0	3	0	2	2	3	0	5	5	rs557303188		TCGA-V1-A8ML-01A-11D-A377-08	TCGA-V1-A8ML-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cec2fc20-36ef-4bd5-9496-d19a0ff4b6e1	291dc91d-9f58-4a35-8a15-ebbc601c6bdb	g.chr10:61011334C>T	ENST00000373868.2	-	13	1722		c.e13+1		FAM13C_ENST00000373867.3_Splice_Site|FAM13C_ENST00000435852.2_Silent_p.R545R|FAM13C_ENST00000277705.6_Splice_Site|FAM13C_ENST00000468840.2_Splice_Site|FAM13C_ENST00000442566.3_Splice_Site|FAM13C_ENST00000419214.2_Splice_Site	NM_198215.3	NP_937858.2	Q8NE31	FA13C_HUMAN	family with sequence similarity 13, member C											NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						CCGACACATACCTTCCTGTTT	0.378																																						ENST00000373867.3																			0				NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						c.e14+1		family with sequence similarity 13, member C							157	182	174					10																	61011334		2203	4300	6503	SO:0001630	splice_region_variant	220965							g.chr10:61011334C>T	U79304	CCDS31207.1, CCDS44406.1, CCDS7255.1, CCDS53538.1	10q21	2009-09-15	2009-01-20	2009-01-20	ENSG00000148541	ENSG00000148541			19371	protein-coding gene	gene with protein product			"family with sequence similarity 13, member C1"	FAM13C1			Standard	NM_001001971		Approved		uc001jkn.3	Q8NE31	OTTHUMG00000018277	ENST00000373868.2:c.1634+1G>A	10.37:g.61011334C>T						FAM13C_ENST00000442566.3_Splice_Site|FAM13C_ENST00000277705.6_Splice_Site|FAM13C_ENST00000419214.2_Splice_Site|FAM13C_ENST00000373868.2_Splice_Site|FAM13C_ENST00000435852.2_Silent_p.R545R|FAM13C_ENST00000468840.2_Splice_Site		NM_001166698.1	NP_001160170.1	Q8NE31	FA13C_HUMAN			14	1848	-								B7ZB77|Q5T631|Q6P2M3|Q99787	Splice_Site	SNP	ENST00000373868.2	37		CCDS7255.1	.	.	.	.	.	.	.	.	.	.	C	18.87	3.714604	0.68730	.	.	ENSG00000148541	ENST00000373867;ENST00000373868;ENST00000442566;ENST00000277705;ENST00000419214;ENST00000468840	.	.	.	5.74	5.74	0.90152	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.095	0.89487	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	FAM13C	60681340	1.000000	0.71417	1.000000	0.80357	0.623000	0.37688	7.147000	0.77382	2.716000	0.92895	0.491000	0.48974	.		0.378	FAM13C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048162.2		Intron	6	149	0	0	0	1	0	6	149					T	61011334	C	T	61011334	5	4	372	1	0	0	0	0	0	0	1	0	5454	521	18	3	130	3	FAM13C	10	61011334	Splice_Site	SNP	C	TCGA-V1-A8ML-01A-11D-A377-08	9426633	61011334	74523413	11	18452											
RIC3	79608	broad.mit.edu	37	chr11	8159870	8159870	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agtatagcatttcccatcctCtgcagttgttttcccctttg	6	17	6	12	0	1	0	0	0	1	0	4	0	4	0	4	0	2	5	4	0	2	7			TCGA-V1-A8ML-01A-11D-A377-08	TCGA-V1-A8ML-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cec2fc20-36ef-4bd5-9496-d19a0ff4b6e1	291dc91d-9f58-4a35-8a15-ebbc601c6bdb	g.chr11:8159870C>T	ENST00000309737.6	-	3	375	c.376G>A	c.(376-378)Gag>Aag	p.E126K	RIC3_ENST00000335425.7_Intron|RIC3_ENST00000425599.2_Missense_Mutation_p.E126K|RIC3_ENST00000539720.1_Missense_Mutation_p.E77K|RIC3_ENST00000343202.4_Missense_Mutation_p.E126K|RIC3_ENST00000530060.1_5'UTR			Q7Z5B4	RIC3_HUMAN	RIC3 acetylcholine receptor chaperone	126					cellular protein complex assembly (GO:0043623)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|protein folding (GO:0006457)|synaptic transmission, cholinergic (GO:0007271)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)	17				Epithelial(150;2.89e-07)|BRCA - Breast invasive adenocarcinoma(625;0.204)		TTCCCATCCTCTGCAGTTGTT	0.438																																						ENST00000343202.4																			0				breast(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)	17						c.(376-378)Gag>Aag		RIC3 acetylcholine receptor chaperone							251	242	245					11																	8159870		2201	4296	6497	SO:0001583	missense	79608					endoplasmic reticulum membrane|Golgi membrane|integral to membrane		g.chr11:8159870C>T		CCDS7788.1, CCDS44533.1, CCDS55741.1, CCDS55742.1	11p15.4	2013-08-05	2013-08-05		ENSG00000166405	ENSG00000166405			30338	protein-coding gene	gene with protein product		610509	"resistance to inhibitors of cholinesterase 3 homolog (C. elegans)"			12821669	Standard	NM_024557		Approved	FLJ11608, PRO1385, AYST720	uc001mgd.2	Q7Z5B4	OTTHUMG00000165694	ENST00000309737.6:c.376G>A	11.37:g.8159870C>T	ENSP00000308820:p.Glu126Lys					RIC3_ENST00000309737.6_Missense_Mutation_p.E126K|RIC3_ENST00000335425.7_Intron|RIC3_ENST00000530060.1_5'UTR|RIC3_ENST00000539720.1_Missense_Mutation_p.E77K|RIC3_ENST00000425599.2_Missense_Mutation_p.E126K	p.E126K	NM_001206671.2|NM_024557.4	NP_001193600.1|NP_078833.3	Q7Z5B4	RIC3_HUMAN		Epithelial(150;2.89e-07)|BRCA - Breast invasive adenocarcinoma(625;0.204)	3	441	-			126					B0B1U0|B2RD25|D3DQU5|Q6UX78|Q7Z5B3|Q86T94|Q8TBJ9|Q9HAH8	Missense_Mutation	SNP	ENST00000309737.6	37	c.376G>A	CCDS55742.1	.	.	.	.	.	.	.	.	.	.	C	15.63	2.890508	0.52014	.	.	ENSG00000166405	ENST00000343202;ENST00000309737;ENST00000543346;ENST00000539720;ENST00000425599;ENST00000531450	T;T;T;T;T	0.30182	1.54;1.54;1.54;1.54;1.54	5.64	5.64	0.86602	.	0.234249	0.37178	N	0.002210	T	0.31575	0.0801	M	0.62723	1.935	0.80722	D	1	P;P;B;B	0.46859	0.723;0.885;0.328;0.328	B;P;B;B	0.44946	0.251;0.465;0.124;0.124	T	0.09707	-1.0662	10	0.06757	T	0.87	.	12.2355	0.54514	0.0:0.9219:0.0:0.0781	.	126;126;126;126	B7Z1U4;B0B1U0;Q7Z5B4;Q7Z5B4-5	.;.;RIC3_HUMAN;.	K	126;126;126;77;126;126	ENSP00000344904:E126K;ENSP00000308820:E126K;ENSP00000443871:E77K;ENSP00000395320:E126K;ENSP00000431658:E126K	ENSP00000308820:E126K	E	-	1	0	RIC3	8116446	0.361000	0.24972	0.999000	0.59377	0.998000	0.95712	2.532000	0.45659	2.651000	0.90000	0.609000	0.83330	GAG		0.438	RIC3-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000385900.1	NM_024557		38	159	0	0	0	1	0	38	159					T	8159870	C	T	8159870	3	4	372	1	0	0	0	0	1	0	0	0	13354	922	32	3	746	3	RIC3	11	8159870	Missense_Mutation	SNP	C	TCGA-V1-A8ML-01A-11D-A377-08		8159870	126846646	12	18453											
EML3	256364	broad.mit.edu	37	chr11	62375178	62375178	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gggtaagggtcccattcccaGgaacccctactccaccactc	9	7	8	17	0	0	0	0	0	0	0	4	1	3	1	6	3	2	1	6	3	3	3			TCGA-V1-A8ML-01A-11D-A377-08	TCGA-V1-A8ML-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cec2fc20-36ef-4bd5-9496-d19a0ff4b6e1	291dc91d-9f58-4a35-8a15-ebbc601c6bdb	g.chr11:62375178G>A	ENST00000394773.2	-	11	1629	c.1322C>T	c.(1321-1323)cCt>cTt	p.P441L	EML3_ENST00000531557.1_Missense_Mutation_p.P224L|EML3_ENST00000494176.2_Missense_Mutation_p.P413L|EML3_ENST00000529309.1_Missense_Mutation_p.P441L|EML3_ENST00000438258.1_Intron|RP11-831H9.3_ENST00000532626.1_RNA|EML3_ENST00000278845.4_Missense_Mutation_p.P442L	NM_153265.2	NP_694997.2	Q32P44	EMAL3_HUMAN	echinoderm microtubule associated protein like 3	441						cytoplasm (GO:0005737)|microtubule (GO:0005874)				biliary_tract(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						CCCATTCCCAGGAACCCCTAC	0.577																																						ENST00000394773.2																			0				biliary_tract(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						c.(1321-1323)cCt>cTt		echinoderm microtubule associated protein like 3							114	105	108					11																	62375178		2202	4299	6501	SO:0001583	missense	256364					cytoplasm|microtubule	protein binding	g.chr11:62375178G>A	AK093146	CCDS8023.2	11q12.3	2013-01-10			ENSG00000149499	ENSG00000149499		"WD repeat domain containing"	26666	protein-coding gene	gene with protein product						15225882, 14744259	Standard	NM_153265		Approved	FLJ35827, ELP95	uc001ntu.1	Q32P44	OTTHUMG00000149817	ENST00000394773.2:c.1322C>T	11.37:g.62375178G>A	ENSP00000378254:p.Pro441Leu					EML3_ENST00000531557.1_Missense_Mutation_p.P224L|EML3_ENST00000529309.1_Missense_Mutation_p.P441L|EML3_ENST00000278845.4_Missense_Mutation_p.P442L|EML3_ENST00000494176.2_Missense_Mutation_p.P413L|EML3_ENST00000438258.1_Intron	p.P441L	NM_153265.2	NP_694997.2	Q32P44	EMAL3_HUMAN			11	1629	-			441					Q6ZQW7|Q8NA55	Missense_Mutation	SNP	ENST00000394773.2	37	c.1322C>T	CCDS8023.2	.	.	.	.	.	.	.	.	.	.	G	10.20	1.285282	0.23478	.	.	ENSG00000149499	ENST00000394773;ENST00000278845;ENST00000531557;ENST00000494176;ENST00000529309	T;T;T;T;T	0.38722	1.12;1.12;1.53;1.68;1.67	5.2	2.97	0.34412	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	1.080920	0.07173	N	0.852779	T	0.25005	0.0607	N	0.14661	0.345	0.19300	N	0.999977	B;B;B;B;B	0.06786	0.001;0.0;0.0;0.0;0.0	B;B;B;B;B	0.08055	0.003;0.001;0.001;0.001;0.003	T	0.13361	-1.0512	10	0.08179	T	0.78	-0.4249	10.0454	0.42184	0.1971:0.0:0.8029:0.0	.	441;441;224;442;413	Q32P44-2;Q32P44;G3V195;B7WPE2;G3V1D0	.;EMAL3_HUMAN;.;.;.	L	441;442;224;413;441	ENSP00000378254:P441L;ENSP00000278845:P442L;ENSP00000433417:P224L;ENSP00000435064:P413L;ENSP00000434513:P441L	ENSP00000278845:P442L	P	-	2	0	EML3	62131754	0.995000	0.38212	0.818000	0.32626	0.612000	0.37316	1.618000	0.36954	1.208000	0.43306	0.460000	0.39030	CCT		0.577	EML3-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000313432.1	NM_153265		5	84	0	0	0	1	0	5	84					A	62375178	G	A	62375178	3	1	372	1	0	0	0	0	1	0	0	0	5098	1000	35	3	1416	3	EML3	11	62375178	Missense_Mutation	SNP	G	TCGA-V1-A8ML-01A-11D-A377-08	54215308	62375178	72631338	13	18454											
NCKAP1L	3071	broad.mit.edu	37	chr12	54914981	54914981	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaagcagaccagcaattgcGtcctggagatctgtgctgag	10	8	12	11	1	1	3	0	1	1	2	2	4	2	3	3	1	4	3	3	1	2	1			TCGA-V1-A8ML-01A-11D-A377-08	TCGA-V1-A8ML-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cec2fc20-36ef-4bd5-9496-d19a0ff4b6e1	291dc91d-9f58-4a35-8a15-ebbc601c6bdb	g.chr12:54914981G>A	ENST00000293373.6	+	18	1916	c.1837G>A	c.(1837-1839)Gtc>Atc	p.V613I	NCKAP1L_ENST00000545638.2_Missense_Mutation_p.V563I	NM_005337.4	NP_005328.2	P55160	NCKPL_HUMAN	NCK-associated protein 1-like	613					actin polymerization-dependent cell motility (GO:0070358)|B cell homeostasis (GO:0001782)|B cell receptor signaling pathway (GO:0050853)|chemotaxis (GO:0006935)|cortical actin cytoskeleton organization (GO:0030866)|erythrocyte development (GO:0048821)|maintenance of cell polarity (GO:0030011)|myeloid cell homeostasis (GO:0002262)|negative regulation of apoptotic process (GO:0043066)|negative regulation of interleukin-17 production (GO:0032700)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of myosin-light-chain-phosphatase activity (GO:0035509)|neutrophil chemotaxis (GO:0030593)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of CD4-positive, alpha-beta T cell differentiation (GO:0043372)|positive regulation of CD8-positive, alpha-beta T cell differentiation (GO:0043378)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of gamma-delta T cell differentiation (GO:0045588)|positive regulation of lymphocyte differentiation (GO:0045621)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of phagocytosis, engulfment (GO:0060100)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of T cell proliferation (GO:0042102)|protein complex assembly (GO:0006461)|response to drug (GO:0042493)|T cell homeostasis (GO:0043029)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|SCAR complex (GO:0031209)	protein complex binding (GO:0032403)|protein kinase activator activity (GO:0030295)|Rac GTPase activator activity (GO:0030675)			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2)	80						CAGCAATTGCGTCCTGGAGAT	0.567																																						ENST00000293373.6																			0				NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2)	80						c.(1837-1839)Gtc>Atc		NCK-associated protein 1-like							144	127	133					12																	54914981		2203	4300	6503	SO:0001583	missense	3071				actin polymerization-dependent cell motility|B cell homeostasis|B cell receptor signaling pathway|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of actin filament polymerization|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|positive regulation of T cell proliferation|protein complex assembly|response to drug|T cell homeostasis	cytosol|integral to plasma membrane|membrane fraction|SCAR complex	protein complex binding|protein kinase activator activity|Rac GTPase activator activity	g.chr12:54914981G>A	AI924363	CCDS31813.1, CCDS53799.1	12q13.1	2005-10-11	2005-10-11	2005-10-11		ENSG00000123338			4862	protein-coding gene	gene with protein product		141180	"hematopoietic protein 1"	HEM1		1932118	Standard	NM_005337		Approved		uc001sgc.4	P55160	OTTHUMG00000169843	ENST00000293373.6:c.1837G>A	12.37:g.54914981G>A	ENSP00000293373:p.Val613Ile					NCKAP1L_ENST00000545638.2_Missense_Mutation_p.V563I	p.V613I	NM_005337.4	NP_005328.2	P55160	NCKPL_HUMAN			18	1916	+			613					B4DUT5|Q52LW0	Missense_Mutation	SNP	ENST00000293373.6	37	c.1837G>A	CCDS31813.1	.	.	.	.	.	.	.	.	.	.	G	6.969	0.548796	0.13312	.	.	ENSG00000123338	ENST00000293373;ENST00000545638	T;T	0.24723	1.84;1.84	5.14	4.25	0.50352	.	0.065198	0.64402	D	0.000011	T	0.12008	0.0292	N	0.11845	0.185	0.39733	D	0.971636	B	0.10296	0.003	B	0.08055	0.003	T	0.10086	-1.0645	10	0.02654	T	1	-16.2173	11.5517	0.50725	0.0878:0.0:0.9122:0.0	.	613	P55160	NCKPL_HUMAN	I	613;563	ENSP00000293373:V613I;ENSP00000445596:V563I	ENSP00000293373:V613I	V	+	1	0	NCKAP1L	53201248	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	2.866000	0.48420	1.304000	0.44892	0.484000	0.47621	GTC		0.567	NCKAP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406195.1	NM_005337		3	48	0	0	0	1	0	3	48					A	54914981	G	A	54914981	3	1	372	1	0	0	0	0	1	0	0	0	10222	1145	40	1	1907	1	NCKAP1L	12	54914981	Missense_Mutation	SNP	G	TCGA-V1-A8ML-01A-11D-A377-08		54914981	78936914	14	18455											
ANO4	121601	broad.mit.edu	37	chr12	101436230	101436230	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgtatggcgtcaccactctgGatcacagccaagtcaggtac	10	9	10	12	1	4	0	3	0	1	0	4	1	4	1	2	3	2	2	2	3	3	2			TCGA-V1-A8ML-01A-11D-A377-08	TCGA-V1-A8ML-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cec2fc20-36ef-4bd5-9496-d19a0ff4b6e1	291dc91d-9f58-4a35-8a15-ebbc601c6bdb	g.chr12:101436230G>T	ENST00000392977.3	+	12	1348	c.1138G>T	c.(1138-1140)Gat>Tat	p.D380Y	ANO4_ENST00000392979.3_Missense_Mutation_p.D345Y|ANO4_ENST00000299222.9_5'UTR			Q32M45	ANO4_HUMAN	anoctamin 4	380					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)			NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						CACCACTCTGGATCACAGCCA	0.488										HNSCC(74;0.22)																												ENST00000392979.3																			0				NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						c.(1033-1035)Gat>Tat		anoctamin 4							162	145	151					12																	101436230		2203	4300	6503	SO:0001583	missense	121601					chloride channel complex	chloride channel activity	g.chr12:101436230G>T	AK091540	CCDS31884.1, CCDS66445.1	12q23.3	2014-04-09	2008-08-28	2008-08-28	ENSG00000151572	ENSG00000151572		"Ion channels / Chloride channels : Calcium activated : Anoctamins"	23837	protein-coding gene	gene with protein product		610111	"transmembrane protein 16D"	TMEM16D		12739008, 15067359, 24692353	Standard	NM_178826		Approved	FLJ34221, FLJ34272, FLJ35277	uc001thw.2	Q32M45		ENST00000392977.3:c.1138G>T	12.37:g.101436230G>T	ENSP00000376703:p.Asp380Tyr	HNSCC(74;0.22)				ANO4_ENST00000392977.3_Missense_Mutation_p.D380Y|ANO4_ENST00000299222.9_5'UTR	p.D345Y	NM_178826.3	NP_849148.2	Q32M45	ANO4_HUMAN			11	1394	+			380					Q8NAJ0|Q8NB39|Q8NB53	Missense_Mutation	SNP	ENST00000392977.3	37	c.1033G>T		.	.	.	.	.	.	.	.	.	.	G	20.3	3.961255	0.74016	.	.	ENSG00000151572	ENST00000392979;ENST00000392977	T;T	0.70282	-0.47;-0.47	5.85	5.85	0.93711	.	0.117629	0.56097	D	0.000025	T	0.73999	0.3659	L	0.51853	1.615	0.80722	D	1	B;P	0.36048	0.389;0.534	P;P	0.48552	0.553;0.581	T	0.75448	-0.3314	10	0.87932	D	0	.	11.1317	0.48351	0.1105:0.0:0.8895:0.0	.	380;345	Q32M45;Q32M45-2	ANO4_HUMAN;.	Y	345;380	ENSP00000376705:D345Y;ENSP00000376703:D380Y	ENSP00000376703:D380Y	D	+	1	0	ANO4	99960361	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	5.504000	0.66968	2.761000	0.94854	0.655000	0.94253	GAT		0.488	ANO4-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000409295.1	NM_178826		12	93	1	0	2.32078e-09	1	2.55286e-09	12	93					T	101436230	G	T	101436230	3	4	372	1	0	0	0	0	1	0	0	0	699	1174	41	5	1071	5	ANO4	12	101436230	Missense_Mutation	SNP	G	TCGA-V1-A8ML-01A-11D-A377-08	46521249	101436230	32415665	15	18456											
DAAM1	23002	broad.mit.edu	37	chr14	59730213	59730213	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccatggccccaagaaagagAggtggacgaggtatttcatt	12	8	13	8	1	1	2	1	0	0	2	1	5	1	3	3	4	0	1	3	4	3	3			TCGA-V1-A8ML-01A-11D-A377-08	TCGA-V1-A8ML-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cec2fc20-36ef-4bd5-9496-d19a0ff4b6e1	291dc91d-9f58-4a35-8a15-ebbc601c6bdb	g.chr14:59730213A>C	ENST00000395125.1	+	1	41	c.18A>C	c.(16-18)agA>agC	p.R6S	DAAM1_ENST00000351081.1_Missense_Mutation_p.R6S|DAAM1_ENST00000556135.1_Missense_Mutation_p.R6S|DAAM1_ENST00000360909.3_Missense_Mutation_p.R6S	NM_014992.2	NP_055807.1	Q9Y4D1	DAAM1_HUMAN	dishevelled associated activator of morphogenesis 1	6					actin cytoskeleton organization (GO:0030036)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	identical protein binding (GO:0042802)			breast(3)|cervix(3)|endometrium(5)|kidney(5)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	37				OV - Ovarian serous cystadenocarcinoma(108;0.165)		CAAGAAAGAGAGGTGGACGAG	0.413																																						ENST00000395125.1																			0				breast(3)|cervix(3)|endometrium(5)|kidney(5)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	37						c.(16-18)agA>agC		dishevelled associated activator of morphogenesis 1							127	121	123					14																	59730213		2203	4300	6503	SO:0001583	missense	23002				actin cytoskeleton organization	cytoplasm|plasma membrane	actin binding|Rho GTPase binding	g.chr14:59730213A>C	AB014566	CCDS9737.1, CCDS58323.1	14q22.3	2008-08-11			ENSG00000100592	ENSG00000100592			18142	protein-coding gene	gene with protein product		606626				11779461, 18162551	Standard	NM_014992		Approved	KIAA0666	uc031qou.1	Q9Y4D1	OTTHUMG00000140326	ENST00000395125.1:c.18A>C	14.37:g.59730213A>C	ENSP00000378557:p.Arg6Ser					DAAM1_ENST00000556135.1_Missense_Mutation_p.R6S|DAAM1_ENST00000351081.1_Missense_Mutation_p.R6S|DAAM1_ENST00000360909.3_Missense_Mutation_p.R6S	p.R6S	NM_014992.2	NP_055807.1	Q9Y4D1	DAAM1_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.165)	1	41	+			6					Q86U34|Q8N1Z8|Q8TB39	Missense_Mutation	SNP	ENST00000395125.1	37	c.18A>C	CCDS9737.1	.	.	.	.	.	.	.	.	.	.	A	15.47	2.844114	0.51164	.	.	ENSG00000100592	ENST00000360909;ENST00000351081;ENST00000358498;ENST00000556135;ENST00000395125	T;T;T	0.79940	-1.32;-1.31;-1.31	5.68	3.36	0.38483	.	0.000000	0.85682	D	0.000000	D	0.84302	0.5442	L	0.54323	1.7	0.58432	D	0.999999	D;D;D	0.76494	0.981;0.967;0.999	D;P;D	0.80764	0.943;0.879;0.994	T	0.81152	-0.1063	10	0.46703	T	0.11	.	7.1471	0.25589	0.6218:0.0:0.3782:0.0	.	6;6;6	Q9Y4D1-2;Q9Y4D1;A8K6X5	.;DAAM1_HUMAN;.	S	6	ENSP00000354162:R6S;ENSP00000247170:R6S;ENSP00000378557:R6S	ENSP00000247170:R6S	R	+	3	2	DAAM1	58799966	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	1.681000	0.37618	0.442000	0.26555	-0.256000	0.11100	AGA		0.413	DAAM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276942.2	NM_014992		9	36	0	0	0	1	0	9	36					C	59730213	A	C	59730213	3	2	372	1	0	0	0	0	1	0	0	0	4215	301	11	5	20	5	DAAM1	14	59730213	Missense_Mutation	SNP	A	TCGA-V1-A8ML-01A-11D-A377-08		59730213	47619327	16	18457											
TRPV1	7442	broad.mit.edu	37	chr17	3491535	3491535	+	Frame_Shift_Del	DEL	A	A	-																															cagcaccgagttcttctcgcAggtgtcgatgcaggacaggt																										TCGA-V1-A8ML-01A-11D-A377-08	TCGA-V1-A8ML-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cec2fc20-36ef-4bd5-9496-d19a0ff4b6e1	291dc91d-9f58-4a35-8a15-ebbc601c6bdb	g.chr17:3491535delA	ENST00000571088.1	-	7	1384	c.1171delT	c.(1171-1173)tgcfs	p.C391fs	TRPV1_ENST00000174621.6_Frame_Shift_Del_p.C389fs|TRPV1_ENST00000399759.3_Frame_Shift_Del_p.C391fs|TRPV1_ENST00000399756.4_Frame_Shift_Del_p.C391fs|SHPK_ENST00000572705.1_Frame_Shift_Del_p.C391fs|TRPV1_ENST00000425167.2_Frame_Shift_Del_p.C402fs|TRPV1_ENST00000576351.1_Frame_Shift_Del_p.C391fs|TRPV1_ENST00000310522.5_Intron	NM_018727.5	NP_061197.4	Q8NER1	TRPV1_HUMAN	transient receptor potential cation channel, subfamily V, member 1	391					calcium ion transmembrane transport (GO:0070588)|cell surface receptor signaling pathway (GO:0007166)|cellular response to alkaloid (GO:0071312)|cellular response to ATP (GO:0071318)|chemosensory behavior (GO:0007635)|ion transmembrane transport (GO:0034220)|thermoception (GO:0050955)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|cell projection (GO:0042995)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	ATP binding (GO:0005524)|calcium channel activity (GO:0005262)|calcium-release channel activity (GO:0015278)|excitatory extracellular ligand-gated ion channel activity (GO:0005231)|phosphoprotein binding (GO:0051219)|transmembrane signaling receptor activity (GO:0004888)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	17				Lung(1;0.055)|COAD - Colon adenocarcinoma(5;0.0896)|LUAD - Lung adenocarcinoma(1115;0.131)	Alpha-Linolenic Acid(DB00132)|Aspartame(DB00168)|Icosapent(DB00159)	TTCTTCTCGCAGGTGTCGATG	0.657																																					Melanoma(38;962 1762 15789)	ENST00000174621.6																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	17						c.(1165-1167)gcfs		transient receptor potential cation channel, subfamily V, member 1	Alpha-Linolenic Acid(DB00132)|Aspartame(DB00168)|Icosapent(DB00159)						28	34	32					17																	3491535		2097	4234	6331	SO:0001589	frameshift_variant	7442				cell surface receptor linked signaling pathway|chemosensory behavior|thermoception	cell junction|dendritic spine membrane|integral to plasma membrane|postsynaptic membrane	ATP binding|calcium channel activity|calmodulin binding	g.chr17:3491535delA	AJ272063	CCDS45576.1	17p13.2	2014-08-12	2002-01-29	2002-02-01	ENSG00000196689	ENSG00000262304		"Voltage-gated ion channels / Transient receptor potential cation channels", "Ankyrin repeat domain containing"	12716	protein-coding gene	gene with protein product		602076	"vanilloid receptor subtype 1"	VR1		9349813, 11549313, 16382100	Standard	NM_018727		Approved		uc010vrt.2	Q8NER1	OTTHUMG00000177649	ENST00000571088.1:c.1171delT	17.37:g.3491535delA	ENSP00000461007:p.Cys391fs					TRPV1_ENST00000310522.5_Intron|SHPK_ENST00000572705.1_Frame_Shift_Del_p.C391fs|TRPV1_ENST00000576351.1_Frame_Shift_Del_p.C391fs|TRPV1_ENST00000399756.4_Frame_Shift_Del_p.C391fs|TRPV1_ENST00000399759.3_Frame_Shift_Del_p.C391fs|TRPV1_ENST00000571088.1_Frame_Shift_Del_p.C391fs|TRPV1_ENST00000425167.2_Frame_Shift_Del_p.C402fs	p.C389fs			Q8NER1	TRPV1_HUMAN		Lung(1;0.055)|COAD - Colon adenocarcinoma(5;0.0896)|LUAD - Lung adenocarcinoma(1115;0.131)	6	1454	-			391					A2RUA9|Q3LU47|Q9H0G9|Q9H303|Q9H304|Q9NQ74|Q9NY22	Frame_Shift_Del	DEL	ENST00000571088.1	37	c.1165delT	CCDS45576.1																																																																																				0.657	TRPV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438254.1	NM_018727		2	4						2	4	---	---	---	---	-	3491535	A	-	3491535	7	5	372	1	0	1	0	1	0	0	0	0	16592	188	7	0	1061	0	TRPV1	17	3491535	Frame_Shift_Del	DEL	A	TCGA-V1-A8ML-01A-11D-A377-08		3491535	77703675	17	18458											
KDM6A	7403	broad.mit.edu	37	chrX	44938585	44938585	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	accaggcctcctcattccagGaatcattgagagtaagtatt	12	11	8	10	0	2	1	2	1	0	1	4	3	4	2	4	2	0	2	4	2	3	5			TCGA-V1-A8ML-01A-11D-A377-08	TCGA-V1-A8ML-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cec2fc20-36ef-4bd5-9496-d19a0ff4b6e1	291dc91d-9f58-4a35-8a15-ebbc601c6bdb	g.chrX:44938585G>T	ENST00000377967.4	+	20	3174	c.3133G>T	c.(3133-3135)Gaa>Taa	p.E1045*	KDM6A_ENST00000382899.4_Nonsense_Mutation_p.E1052*|KDM6A_ENST00000543216.1_Nonsense_Mutation_p.E966*|KDM6A_ENST00000536777.1_Nonsense_Mutation_p.E1000*	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN	lysine (K)-specific demethylase 6A	1045	Interaction with SUPT6H. {ECO:0000250}.				canonical Wnt signaling pathway (GO:0060070)|heart morphogenesis (GO:0003007)|histone H3-K4 methylation (GO:0051568)|in utero embryonic development (GO:0001701)|mesodermal cell differentiation (GO:0048333)|multicellular organism growth (GO:0035264)|neural tube closure (GO:0001843)|notochord morphogenesis (GO:0048570)|regulation of gene expression (GO:0010468)|respiratory system process (GO:0003016)|somite rostral/caudal axis specification (GO:0032525)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|histone demethylase activity (H3-K27 specific) (GO:0071558)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)	p.0?(6)		NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						CTCATTCCAGGAATCATTGAG	0.338			"D, N, F, S"		"renal, oesophageal SCC, MM"																																Colon(129;1273 1667 15230 27352 52914)	ENST00000377967.4				Rec	yes		X	Xp11.2	7403	"D, N, F, S"	"lysine (K)-specific demethylase 6A, UTX"			"E, L"			"renal, oesophageal SCC, MM"		6	Whole gene deletion(6)	p.0?(6)	oesophagus(2)|breast(2)|pancreas(2)	NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						c.(3133-3135)Gaa>Taa		lysine (K)-specific demethylase 6A							107	87	94					X																	44938585		2203	4300	6503	SO:0001587	stop_gained	7403				histone H3-K4 methylation		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chrX:44938585G>T	AF000992	CCDS14265.1	Xp11.2	2014-09-17	2009-04-17	2009-04-17	ENSG00000147050	ENSG00000147050		"Chromatin-modifying enzymes / K-demethylases", "Tetratricopeptide (TTC) repeat domain containing"	12637	protein-coding gene	gene with protein product		300128	"ubiquitously transcribed tetratricopeptide repeat, X chromosome"	UTX		9499428, 9381176	Standard	XM_005272655		Approved		uc004dge.4	O15550	OTTHUMG00000021402	ENST00000377967.4:c.3133G>T	X.37:g.44938585G>T	ENSP00000367203:p.Glu1045*					KDM6A_ENST00000536777.1_Nonsense_Mutation_p.E1000*|KDM6A_ENST00000543216.1_Nonsense_Mutation_p.E966*|KDM6A_ENST00000382899.4_Nonsense_Mutation_p.E1052*	p.E1045*	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN			20	3174	+			1045					Q52LL9|Q5JVQ7	Nonsense_Mutation	SNP	ENST00000377967.4	37	c.3133G>T	CCDS14265.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	39|39	7.858852|7.858852	0.98528|0.98528	.|.	.|.	ENSG00000147050|ENSG00000147050	ENST00000334516;ENST00000377967;ENST00000536777;ENST00000382899;ENST00000543216|ENST00000414389;ENST00000433797	.|.	.|.	.|.	5.6|5.6	5.6|5.6	0.85130|0.85130	.|.	0.043734|.	0.85682|.	D|.	0.000000|.	.|T	.|0.75803	.|0.3899	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.74822	.|-0.3534	.|3	0.87932|.	D|.	0|.	-17.1392|-17.1392	18.6935|18.6935	0.91592|0.91592	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	X|V	742;1045;1000;1052;966|642;687	.|.	ENSP00000334340:E742X|.	E|G	+|+	1|2	0|0	KDM6A|KDM6A	44823529|44823529	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	9.476000|9.476000	0.97823|0.97823	2.359000|2.359000	0.80004|0.80004	0.594000|0.594000	0.82650|0.82650	GAA|GGA		0.338	KDM6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056324.1	NM_021140		10	17	1	0	9.70103e-10	1	1.10391e-09	10	17					T	44938585	G	T	44938585	4	4	372	1	0	0	0	0	0	1	0	0	8137	1175	41	5	3211	5	KDM6A	23	44938585	Nonsense_Mutation	SNP	G	TCGA-V1-A8ML-01A-11D-A377-08		44938585	110331975	18	18459											
ZC3H12B	340554	broad.mit.edu	37	chrX	64722774	64722774	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagcatgccagctgggacccGctgccctgtacaactgactc	8	7	10	16	1	0	1	0	1	0	0	1	2	0	2	3	1	6	4	3	1	2	1			TCGA-V1-A8ML-01A-11D-A377-08	TCGA-V1-A8ML-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cec2fc20-36ef-4bd5-9496-d19a0ff4b6e1	291dc91d-9f58-4a35-8a15-ebbc601c6bdb	g.chrX:64722774G>A	ENST00000338957.4	+	5	2263	c.2196G>A	c.(2194-2196)ccG>ccA	p.P732P	ZC3H12B_ENST00000423889.3_Silent_p.P721P	NM_001010888.3	NP_001010888.3	Q5HYM0	ZC12B_HUMAN	zinc finger CCCH-type containing 12B	732							endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)			breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GCTGGGACCCGCTGCCCTGTA	0.577																																						ENST00000338957.4																			0				breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(2194-2196)ccG>ccA		zinc finger CCCH-type containing 12B							53	55	54					X																	64722774		2192	4285	6477	SO:0001819	synonymous_variant	340554						endonuclease activity|nucleic acid binding|zinc ion binding	g.chrX:64722774G>A	BX647241	CCDS48131.1, CCDS48131.2	Xq12	2012-07-05	2005-06-14	2005-06-14	ENSG00000102053	ENSG00000102053		"Zinc fingers, CCCH-type domain containing"	17407	protein-coding gene	gene with protein product	"MCP induced protein 2"	300889	"chromosome X open reading frame 32"	CXorf32		18178554	Standard	NM_001010888		Approved	MCPIP2	uc010nko.3	Q5HYM0	OTTHUMG00000021719	ENST00000338957.4:c.2196G>A	X.37:g.64722774G>A						ZC3H12B_ENST00000423889.3_Silent_p.P721P	p.P732P	NM_001010888.3	NP_001010888.3	Q5HYM0	ZC12B_HUMAN			5	2263	+			721					B2RTQ3|E9PAJ6|Q5H9C0	Silent	SNP	ENST00000338957.4	37	c.2196G>A	CCDS48131.2																																																																																				0.577	ZC3H12B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378734.2	XM_293334		3	22	0	0	0	1	0	3	22					A	64722774	G	A	64722774	2	1	372	1	0	0	0	0	0	0	0	1	17559	1074	38	1		1	ZC3H12B	23	64722774	Silent	SNP	G	TCGA-V1-A8ML-01A-11D-A377-08	19784189	64722774	90547786	19	18460											
SPTA1	6708	broad.mit.edu	37	chr1	158651379	158651379	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	atactgctggaacttcagggCccgcagcaactggtcaccct	9	8	10	14	1	2	0	2	0	0	0	2	1	2	1	2	3	5	3	2	3	3	2			TCGA-V1-A8MM-01A-11D-A377-08	TCGA-V1-A8MM-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	508c5ad2-f778-4997-84bb-f8a060fc3286	68397e1f-276f-4831-b395-7aec3cffaf4e	g.chr1:158651379C>A	ENST00000368147.4	-	4	649	c.469G>T	c.(469-471)Gcc>Tcc	p.A157S		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	157					actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					AACTTCAGGGCCCGCAGCAAC	0.527																																						ENST00000368148.3																			0				NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307						c.(469-471)Gcc>Tcc		spectrin, alpha, erythrocytic 1 (elliptocytosis 2)							179	183	182					1																	158651379		2028	4187	6215	SO:0001583	missense	6708				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	g.chr1:158651379C>A	M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"EF-hand domain containing"	11272	protein-coding gene	gene with protein product	"elliptocytosis 2"	182860	"spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.469G>T	1.37:g.158651379C>A	ENSP00000357129:p.Ala157Ser					SPTA1_ENST00000368147.3_Missense_Mutation_p.A157S	p.A157S	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN			4	649	-	all_hematologic(112;0.0378)		157					Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Missense_Mutation	SNP	ENST00000368147.4	37	c.469G>T	CCDS41423.1	.	.	.	.	.	.	.	.	.	.	C	13.64	2.297590	0.40694	.	.	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.37235	1.21;1.21	5.15	4.25	0.50352	.	.	.	.	.	T	0.24624	0.0597	M	0.69823	2.125	0.43512	D	0.995779	B	0.25772	0.134	B	0.34991	0.193	T	0.08289	-1.0729	9	0.18710	T	0.47	.	12.486	0.55872	0.0:0.9191:0.0:0.0809	.	157	P02549	SPTA1_HUMAN	S	157	ENSP00000357130:A157S;ENSP00000357129:A157S	ENSP00000357129:A157S	A	-	1	0	SPTA1	156918003	1.000000	0.71417	0.272000	0.24630	0.114000	0.19823	3.358000	0.52284	1.401000	0.46761	0.563000	0.77884	GCC		0.527	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126		46	57	1	0	2.46787e-29	1	2.6794e-29	46	57					A	158651379	C	A	158651379	3	1	373	1	0	0	0	0	1	0	0	0	15115	739	26	5	6986	5	SPTA1	1	158651379	Missense_Mutation	SNP	C	TCGA-V1-A8MM-01A-11D-A377-08		158651379	90599242	1	18461											
ST6GAL2	84620	broad.mit.edu	37	chr2	107460368	107460368	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tagatgaaaatcagcaaaaaGaggagcccccaagcgaatat	19	5	9	8	1	1	3	1	1	0	2	1	5	1	4	2	1	3	1	2	1	8	2			TCGA-V1-A8MM-01A-11D-A377-08	TCGA-V1-A8MM-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	508c5ad2-f778-4997-84bb-f8a060fc3286	68397e1f-276f-4831-b395-7aec3cffaf4e	g.chr2:107460368G>A	ENST00000409382.3	-	2	676	c.66C>T	c.(64-66)ctC>ctT	p.L22L	ST6GAL2_ENST00000409087.3_Silent_p.L22L|AC016994.2_ENST00000425419.1_RNA|ST6GAL2_ENST00000361686.4_Silent_p.L22L	NM_001142351.1	NP_001135823.1	Q96JF0	SIAT2_HUMAN	ST6 beta-galactosamide alpha-2,6-sialyltranferase 2	22					growth (GO:0040007)|multicellular organismal development (GO:0007275)|oligosaccharide metabolic process (GO:0009311)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	beta-galactoside alpha-2,6-sialyltransferase activity (GO:0003835)			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(30)|ovary(5)|pancreas(6)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	65						TCAGCAAAAAGAGGAGCCCCC	0.537																																						ENST00000409382.3																			0				autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(30)|ovary(5)|pancreas(6)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	65						c.(64-66)ctC>ctT		ST6 beta-galactosamide alpha-2,6-sialyltranferase 2							45	53	51					2																	107460368		2203	4300	6503	SO:0001819	synonymous_variant	84620				growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation	Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,6-sialyltransferase activity	g.chr2:107460368G>A	AB059555	CCDS2073.1, CCDS46380.1	2q11-q12	2008-02-05	2005-02-07	2005-02-07	ENSG00000144057	ENSG00000144057	2.4.99.2		10861	protein-coding gene	gene with protein product		608472	"sialyltransferase 2 (monosialoganglioside sialyltransferase)"	SIAT2			Standard	NM_032528		Approved	KIAA1877, St6gal2, St6GalII	uc002tdr.3	Q96JF0	OTTHUMG00000130923	ENST00000409382.3:c.66C>T	2.37:g.107460368G>A						ST6GAL2_ENST00000409087.3_Silent_p.L22L|ST6GAL2_ENST00000361686.4_Silent_p.L22L	p.L22L	NM_001142351.1	NP_001135823.1	Q96JF0	SIAT2_HUMAN			2	676	-			22					D3DVK3|Q53QP4|Q86Y44|Q8IUG7|Q96HE4	Silent	SNP	ENST00000409382.3	37	c.66C>T	CCDS2073.1																																																																																				0.537	ST6GAL2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330065.1	NM_032528		13	29	0	0	0	1	0	13	29					A	107460368	G	A	107460368	2	1	373	1	0	0	0	0	0	0	0	1	15221	929	33	3		3	ST6GAL2	2	107460368	Silent	SNP	G	TCGA-V1-A8MM-01A-11D-A377-08		107460368	135739005	2	18462											
CCNT2	905	broad.mit.edu	37	chr2	135711337	135711337	+	Frame_Shift_Del	DEL	A	A	-																															ctcagaaaatgtctttagatAaatatagagaaaagcgtaaa																										TCGA-V1-A8MM-01A-11D-A377-08	TCGA-V1-A8MM-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	508c5ad2-f778-4997-84bb-f8a060fc3286	68397e1f-276f-4831-b395-7aec3cffaf4e	g.chr2:135711337delA	ENST00000264157.5	+	9	1342	c.1312delA	c.(1312-1314)aaafs	p.K438fs	CCNT2_ENST00000295238.6_Frame_Shift_Del_p.K438fs|CCNT2_ENST00000537343.1_Frame_Shift_Del_p.K263fs	NM_001241.3|NM_058241.2	NP_001232.1|NP_490595.1	O60583	CCNT2_HUMAN	cyclin T2	438					cell cycle (GO:0007049)|cell division (GO:0051301)|gene expression (GO:0010467)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)				endometrium(2)|kidney(3)|large_intestine(10)|lung(6)|ovary(2)|prostate(1)|skin(1)	25				BRCA - Breast invasive adenocarcinoma(221;0.107)		GTCTTTAGATAAATATAGAGA	0.393																																						ENST00000264157.5																			0				endometrium(2)|kidney(3)|large_intestine(10)|lung(6)|ovary(2)|prostate(1)|skin(1)	25						c.(1312-1314)aafs		cyclin T2							45	49	47					2																	135711337		2202	4299	6501	SO:0001589	frameshift_variant	905				cell cycle|cell division|interspecies interaction between organisms|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction	nucleoplasm	protein kinase binding	g.chr2:135711337delA	AF048731	CCDS2174.1, CCDS2175.1	2q21.3	2010-11-15			ENSG00000082258	ENSG00000082258			1600	protein-coding gene	gene with protein product		603862				9499409, 10465067	Standard	NM_001241		Approved		uc002tuc.2	O60583	OTTHUMG00000131712	ENST00000264157.5:c.1312delA	2.37:g.135711337delA	ENSP00000264157:p.Lys438fs					CCNT2_ENST00000295238.6_Frame_Shift_Del_p.K438fs|CCNT2_ENST00000537343.1_Frame_Shift_Del_p.K263fs	p.K438fs	NM_001241.3|NM_058241.2	NP_001232.1|NP_490595.1	O60583	CCNT2_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.107)	9	1342	+			438					A8KA48|D3DP73|D3DP74|O60582|Q29R66|Q53SR4|Q5I1Y0	Frame_Shift_Del	DEL	ENST00000264157.5	37	c.1312delA	CCDS2174.1																																																																																				0.393	CCNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254629.1	NM_058241		2	4						2	4	---	---	---	---	-	135711337	A	-	135711337	7	5	373	1	0	1	0	1	0	0	0	0	2935	363	13	0	1346	0	CCNT2	2	135711337	Frame_Shift_Del	DEL	A	TCGA-V1-A8MM-01A-11D-A377-08	28250969	135711337	107488036	3	18463											
XIRP2	129446	broad.mit.edu	37	chr2	168100851	168100851	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gagttaaataaatctctcttCgagacaacaccactgtatgc	14	11	6	10	1	2	1	0	0	2	1	4	3	2	1	1	0	2	2	1	0	6	4	rs192182483	byFrequency	TCGA-V1-A8MM-01A-11D-A377-08	TCGA-V1-A8MM-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	508c5ad2-f778-4997-84bb-f8a060fc3286	68397e1f-276f-4831-b395-7aec3cffaf4e	g.chr2:168100851C>T	ENST00000409195.1	+	9	3038	c.2949C>T	c.(2947-2949)ttC>ttT	p.F983F	XIRP2_ENST00000409273.1_Silent_p.F761F|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000295237.9_Silent_p.F983F|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409756.2_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	808					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)		p.F983F(1)		NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						AATCTCTCTTCGAGACAACAC	0.353													C|||	6	0.00119808	0	0	5008	,	,		18426	0.006		0	False		,,,				2504	0					ENST00000409195.1																			1	Substitution - coding silent(1)	p.F983F(1)	large_intestine(1)	NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						c.(2947-2949)ttC>ttT		xin actin-binding repeat containing 2							59	55	56					2																	168100851		1857	4103	5960	SO:0001819	synonymous_variant	129446				actin cytoskeleton organization	cell junction	actin binding	g.chr2:168100851C>T	AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"myomaxin"	609778	"cardiomyopathy associated 3"	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409195.1:c.2949C>T	2.37:g.168100851C>T						XIRP2_ENST00000409273.1_Silent_p.F761F|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000295237.9_Silent_p.F983F|XIRP2_ENST00000409043.1_Intron	p.F983F	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN			9	3038	+			808					A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Silent	SNP	ENST00000409195.1	37	c.2949C>T	CCDS42769.1																																																																																				0.353	XIRP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333547.1	NM_152381		12	22	0	0	0	1	0	12	22					T	168100851	C	T	168100851	2	4	373	1	0	0	0	0	0	0	0	1	17427	883	31	2		2	XIRP2	2	168100851	Silent	SNP	C	TCGA-V1-A8MM-01A-11D-A377-08	32389514	168100851	75098522	4	18464											
CHST13	166012	broad.mit.edu	37	chr3	126260911	126260911	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcctacttggccttcctgttCgtgcgggagcccttcgagcg	3	11	13	14	4	0	0	0	0	0	0	3	2	1	1	4	2	4	1	4	2	1	5			TCGA-V1-A8MM-01A-11D-A377-08	TCGA-V1-A8MM-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	508c5ad2-f778-4997-84bb-f8a060fc3286	68397e1f-276f-4831-b395-7aec3cffaf4e	g.chr3:126260911C>T	ENST00000319340.2	+	3	566	c.516C>T	c.(514-516)ttC>ttT	p.F172F		NM_152889.2	NP_690849.1	Q8NET6	CHSTD_HUMAN	carbohydrate (chondroitin 4) sulfotransferase 13	172					carbohydrate biosynthetic process (GO:0016051)|carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	chondroitin 4-sulfotransferase activity (GO:0047756)|N-acetylgalactosamine 4-O-sulfotransferase activity (GO:0001537)			central_nervous_system(1)|large_intestine(2)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	11				GBM - Glioblastoma multiforme(114;0.151)		CCTTCCTGTTCGTGCGGGAGC	0.706																																						ENST00000319340.2																			0				central_nervous_system(1)|large_intestine(2)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	11						c.(514-516)ttC>ttT		carbohydrate (chondroitin 4) sulfotransferase 13							9	11	10					3																	126260911		2142	4206	6348	SO:0001819	synonymous_variant	166012				chondroitin sulfate biosynthetic process	Golgi membrane|integral to membrane	chondroitin 4-sulfotransferase activity|N-acetylgalactosamine 4-O-sulfotransferase activity	g.chr3:126260911C>T	AY120869	CCDS3039.1	3q21.3	2008-02-05			ENSG00000180767	ENSG00000180767	2.8.2.5	"Sulfotransferases, membrane-bound"	21755	protein-coding gene	gene with protein product		610124				12080076	Standard	NM_152889		Approved	C4ST3	uc003eja.3	Q8NET6	OTTHUMG00000162721	ENST00000319340.2:c.516C>T	3.37:g.126260911C>T							p.F172F	NM_152889.2	NP_690849.1	Q8NET6	CHSTD_HUMAN		GBM - Glioblastoma multiforme(114;0.151)	3	566	+			172					Q3SYA3|Q3SYA5	Silent	SNP	ENST00000319340.2	37	c.516C>T	CCDS3039.1																																																																																				0.706	CHST13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370201.2	NM_152889		6	7	0	0	0	1	0	6	7					T	126260911	C	T	126260911	2	4	373	1	0	0	0	0	0	0	0	1	3401	883	31	2		2	CHST13	3	126260911	Silent	SNP	C	TCGA-V1-A8MM-01A-11D-A377-08		126260911	71761519	5	18465											
CNGA1	1259	broad.mit.edu	37	chr4	47938975	47938975	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ataatgtacatctctcgtccGatatcccctttcttgcaaat	10	15	4	12	2	2	0	0	0	2	0	6	1	4	0	3	0	2	2	3	0	4	5			TCGA-V1-A8MM-01A-11D-A377-08	TCGA-V1-A8MM-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	508c5ad2-f778-4997-84bb-f8a060fc3286	68397e1f-276f-4831-b395-7aec3cffaf4e	g.chr4:47938975G>A	ENST00000514170.1	-	11	1855	c.1536C>T	c.(1534-1536)atC>atT	p.I512I	CNGA1_ENST00000544810.1_Silent_p.I512I|CNGA1_ENST00000358519.4_Silent_p.I512I|CNGA1_ENST00000402813.3_Silent_p.I581I|CNGA1_ENST00000420489.2_Silent_p.I512I			P29973	CNGA1_HUMAN	cyclic nucleotide gated channel alpha 1	512					phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|photoreceptor outer segment membrane (GO:0042622)|plasma membrane (GO:0005886)	cGMP binding (GO:0030553)|intracellular cAMP activated cation channel activity (GO:0005222)|intracellular cGMP activated cation channel activity (GO:0005223)|voltage-gated potassium channel activity (GO:0005249)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|urinary_tract(1)	28						TCTCTCGTCCGATATCCCCTT	0.463																																						ENST00000402813.3																			0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|urinary_tract(1)	28						c.(1741-1743)atC>atT		cyclic nucleotide gated channel alpha 1							109	110	109					4																	47938975		2140	4278	6418	SO:0001819	synonymous_variant	1259				response to stimulus|visual perception	integral to plasma membrane	cGMP binding|ion channel activity	g.chr4:47938975G>A	M84741	CCDS43226.1, CCDS47050.1	4p12	2013-02-14				ENSG00000198515		"Voltage-gated ion channels / Cyclic nucleotide-regulated channels"	2148	protein-coding gene	gene with protein product		123825		CNCG1, CNCG		7683629, 16382102	Standard	NM_000087		Approved	RCNC1, RCNCa, CNG1, RP49	uc003gxu.3	P29973		ENST00000514170.1:c.1536C>T	4.37:g.47938975G>A						CNGA1_ENST00000420489.2_Silent_p.I512I|CNGA1_ENST00000514170.1_Silent_p.I512I|CNGA1_ENST00000358519.4_Silent_p.I512I|CNGA1_ENST00000544810.1_Silent_p.I512I	p.I581I			P29973	CNGA1_HUMAN			10	1885	-			512					A8K7K6|J3KPZ2|Q16279|Q16485|Q4W5E3	Silent	SNP	ENST00000514170.1	37	c.1743C>T	CCDS43226.1																																																																																				0.463	CNGA1-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000372070.2	NM_000087		36	59	0	0	0	1	0	36	59					A	47938975	G	A	47938975	2	1	373	1	0	0	0	0	0	0	0	1	3596	1048	37	2		2	CNGA1	4	47938975	Silent	SNP	G	TCGA-V1-A8MM-01A-11D-A377-08		47938975	143215301	6	18466											
PDE5A	8654	broad.mit.edu	37	chr4	120527915	120527915	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaagcgctgccacatgtccCacaatgcctttgttccattc	8	11	6	16	1	0	0	0	0	0	0	3	0	2	0	5	0	3	2	5	0	2	3			TCGA-V1-A8MM-01A-11D-A377-08	TCGA-V1-A8MM-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	508c5ad2-f778-4997-84bb-f8a060fc3286	68397e1f-276f-4831-b395-7aec3cffaf4e	g.chr4:120527915C>T	ENST00000354960.3	-	2	1009	c.690G>A	c.(688-690)gtG>gtA	p.V230V	PDE5A_ENST00000394439.1_Silent_p.V178V|PDE5A_ENST00000264805.5_Silent_p.V188V	NM_001083.3	NP_001074.2	O76074	PDE5A_HUMAN	phosphodiesterase 5A, cGMP-specific	230	GAF 1.				blood coagulation (GO:0007596)|cGMP catabolic process (GO:0046069)|negative regulation of cardiac muscle contraction (GO:0055118)|negative regulation of T cell proliferation (GO:0042130)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of oocyte development (GO:0060282)|relaxation of cardiac muscle (GO:0055119)|signal transduction (GO:0007165)	cytosol (GO:0005829)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|cGMP binding (GO:0030553)|metal ion binding (GO:0046872)			breast(4)|endometrium(2)|kidney(3)|large_intestine(8)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	27					Avanafil(DB06237)|Caffeine(DB00201)|Dipyridamole(DB00975)|Pentoxifylline(DB00806)|Sildenafil(DB00203)|Tadalafil(DB00820)|Theophylline(DB00277)|Udenafil(DB06267)|Vardenafil(DB00862)	CCACATGTCCCACAATGCCTT	0.478																																						ENST00000354960.3																			0				breast(4)|endometrium(2)|kidney(3)|large_intestine(8)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	27						c.(688-690)gtG>gtA		phosphodiesterase 5A, cGMP-specific	Dipyridamole(DB00975)|Pentoxifylline(DB00806)|Sildenafil(DB00203)|Tadalafil(DB00820)|Theophylline(DB00277)|Vardenafil(DB00862)						145	139	141					4																	120527915		2203	4300	6503	SO:0001819	synonymous_variant	8654				platelet activation|signal transduction	cytosol	3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|zinc ion binding	g.chr4:120527915C>T	D89094	CCDS3713.1, CCDS34055.1	4q27	2008-05-15			ENSG00000138735	ENSG00000138735	3.1.4.17	"Phosphodiesterases"	8784	protein-coding gene	gene with protein product		603310				9714779, 9642111	Standard	NM_033437		Approved		uc003idh.3	O76074	OTTHUMG00000132971	ENST00000354960.3:c.690G>A	4.37:g.120527915C>T						PDE5A_ENST00000394439.1_Silent_p.V178V|PDE5A_ENST00000264805.5_Silent_p.V188V	p.V230V	NM_001083.3	NP_001074.2	O76074	PDE5A_HUMAN			2	1009	-			230			GAF 1.		A0AV69|A8K2C4|O75026|O75887|Q86UI0|Q86V66|Q9Y6Z6	Silent	SNP	ENST00000354960.3	37	c.690G>A	CCDS3713.1																																																																																				0.478	PDE5A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256529.1	NM_001083		8	73	0	0	0	1	0	8	73					T	120527915	C	T	120527915	2	4	373	1	0	0	0	0	0	0	0	1	11644	581	21	3		3	PDE5A	4	120527915	Silent	SNP	C	TCGA-V1-A8MM-01A-11D-A377-08	72588940	120527915	70626361	7	18467											
PCDHA6	56142	broad.mit.edu	37	chr5	140209185	140209185	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cggcgggtgggcgagcgcgcGttgtcgagctacatttcggt	4	9	18	10	8	0	0	0	0	0	0	2	2	0	0	0	4	3	2	0	4	1	3			TCGA-V1-A8MM-01A-11D-A377-08	TCGA-V1-A8MM-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	508c5ad2-f778-4997-84bb-f8a060fc3286	68397e1f-276f-4831-b395-7aec3cffaf4e	g.chr5:140209185G>T	ENST00000529310.1	+	1	1623	c.1509G>T	c.(1507-1509)gcG>gcT	p.A503A	PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000527624.1_Silent_p.A503A|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron	NM_018909.2|NM_031848.2|NM_031849.1	NP_061732.1|NP_114036.1|NP_114037.1	Q9UN73	PCDA6_HUMAN	protocadherin alpha 6	503	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	89			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCGAGCGCGCGTTGTCGAGCT	0.672																																						ENST00000529310.1																			0				NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						c.(1507-1509)gcG>gcT									53	59	57					5																	140209185		2203	4299	6502	SO:0001819	synonymous_variant	0							g.chr5:140209185G>T	AF152484	CCDS47281.1, CCDS47282.1	5q31	2010-11-26			ENSG00000081842	ENSG00000081842		"Cadherins / Protocadherins : Clustered"	8672	other	complex locus constituent	"KIAA0345-like 8"	606312		CNRS2		10380929, 10662547	Standard	NM_018909		Approved	CNR2, CRNR2, PCDH-ALPHA6		Q9UN73	OTTHUMG00000163353	ENST00000529310.1:c.1509G>T	5.37:g.140209185G>T						PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000527624.1_Silent_p.A503A|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529859.1_Intron	p.A503A	NM_018909.2|NM_031848.1|NM_031849.1	NP_061732.1|NP_114036.1|NP_114037.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1623	+								O75283|Q9NRT8	Silent	SNP	ENST00000529310.1	37	c.1509G>T	CCDS47281.1																																																																																				0.672	PCDHA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372829.3	NM_018909		39	51	1	0	1.59361e-14	1	1.68214e-14	39	51					T	140209185	G	T	140209185	2	4	373	1	0	0	0	0	0	0	0	1	11528	1132	40	5		5	PCDHA6	5	140209185	Silent	SNP	G	TCGA-V1-A8MM-01A-11D-A377-08		140209185	40706075	8	18468											
TRIM31	11074	broad.mit.edu	37	chr6	30080303	30080303	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctcctggtgcctcgggcatgTagcctctttccttttggact	3	15	10	13	1	1	0	0	0	1	0	4	1	3	1	4	3	2	2	4	3	1	4			TCGA-V1-A8MM-01A-11D-A377-08	TCGA-V1-A8MM-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	508c5ad2-f778-4997-84bb-f8a060fc3286	68397e1f-276f-4831-b395-7aec3cffaf4e	g.chr6:30080303T>C	ENST00000376734.3	-	2	405	c.280A>G	c.(280-282)Aca>Gca	p.T94A	TRIM31_ENST00000485864.1_5'Flank|TRIM31-AS1_ENST00000440874.1_RNA|TRIM31_ENST00000540829.1_Missense_Mutation_p.T94A	NM_007028.3	NP_008959.3	Q9BZY9	TRI31_HUMAN	tripartite motif containing 31	94					innate immune response (GO:0045087)|negative regulation of viral entry into host cell (GO:0046597)|negative regulation of viral transcription (GO:0032897)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein ubiquitination (GO:0016567)|regulation of viral release from host cell (GO:1902186)	mitochondrion (GO:0005739)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|skin(2)	15						CTCGGGCATGTAGCCTCTTTC	0.488																																						ENST00000376734.3																			0				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|skin(2)	15						c.(280-282)Aca>Gca		tripartite motif containing 31							141	130	134					6																	30080303		1511	2709	4220	SO:0001583	missense	11074					mitochondrion	ligase activity|zinc ion binding	g.chr6:30080303T>C	AF230386	CCDS34374.1	6p21.3	2013-01-09	2011-01-25		ENSG00000204616	ENSG00000204616		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	16289	protein-coding gene	gene with protein product		609316	"tripartite motif-containing 31"			11331580	Standard	XM_006714977		Approved	RNF, HCGI, C6orf13, HCG1	uc003npg.1	Q9BZY9	OTTHUMG00000031064	ENST00000376734.3:c.280A>G	6.37:g.30080303T>C	ENSP00000365924:p.Thr94Ala					TRIM31-AS1_ENST00000440874.1_RNA|TRIM31_ENST00000540829.1_Missense_Mutation_p.T94A	p.T94A	NM_007028.3	NP_008959.3	Q9BZY9	TRI31_HUMAN			2	405	-			94					A6NLX6|A9R9Q4|Q53H52|Q5RI37|Q5SRJ7|Q5SRJ8|Q5SS28|Q96AK4|Q96AP8|Q99579|Q9BZY8	Missense_Mutation	SNP	ENST00000376734.3	37	c.280A>G	CCDS34374.1	.	.	.	.	.	.	.	.	.	.	T	3.252	-0.153057	0.06585	.	.	ENSG00000204616	ENST00000376734;ENST00000376728;ENST00000540829	T;T	0.56941	0.43;0.43	3.43	-1.11	0.09840	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, B-box (3);	0.989207	0.08193	N	0.983503	T	0.07954	0.0199	N	0.13235	0.315	0.09310	N	1	B	0.25486	0.127	B	0.25884	0.064	T	0.19516	-1.0303	10	0.06494	T	0.89	.	0.5206	0.00611	0.229:0.1271:0.1993:0.4446	.	94	Q9BZY9	TRI31_HUMAN	A	94	ENSP00000365924:T94A;ENSP00000444311:T94A	ENSP00000365918:T94A	T	-	1	0	TRIM31	30188282	0.000000	0.05858	0.007000	0.13788	0.002000	0.02628	-0.055000	0.11807	0.027000	0.15297	-1.529000	0.00923	ACA		0.488	TRIM31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076081.2			33	42	0	0	0	1	0	33	42					C	30080303	T	C	30080303	3	2	373	1	0	0	0	0	1	0	0	0	16502	1638	57	4	1029	4	TRIM31	6	30080303	Missense_Mutation	SNP	T	TCGA-V1-A8MM-01A-11D-A377-08		30080303	141034764	9	18469											
NEUROD6	63974	broad.mit.edu	37	chr7	31378732	31378732	+	Frame_Shift_Del	DEL	C	C	-																															ctcggtttcttctccaggggCccttttgatgctctttcctc																								rs201546258		TCGA-V1-A8MM-01A-11D-A377-08	TCGA-V1-A8MM-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	508c5ad2-f778-4997-84bb-f8a060fc3286	68397e1f-276f-4831-b395-7aec3cffaf4e	g.chr7:31378732delC	ENST00000297142.3	-	2	473	c.151delG	c.(151-153)gccfs	p.A51fs		NM_022728.2	NP_073565.2	Q96NK8	NDF6_HUMAN	neuronal differentiation 6	51					cell differentiation (GO:0030154)|dentate gyrus development (GO:0021542)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	32						tctccAGGGGCCCTTTTGATG	0.448																																						ENST00000297142.3																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	32						c.(151-153)ccfs		neuronal differentiation 6							152	155	154					7																	31378732		2203	4300	6503	SO:0001589	frameshift_variant	63974				cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr7:31378732delC	AF248954	CCDS5434.1	7p15.1	2013-05-21	2012-02-22		ENSG00000164600	ENSG00000164600		"Basic helix-loop-helix proteins"	13804	protein-coding gene	gene with protein product		611513	"neurogenic differentiation 6"			12357074	Standard	NM_022728		Approved	Atoh2, NEX1M, Math-2, bHLHa2, Nex1	uc003tch.4	Q96NK8	OTTHUMG00000022865	ENST00000297142.3:c.151delG	7.37:g.31378732delC	ENSP00000297142:p.Ala51fs						p.A51fs	NM_022728.2	NP_073565.2	Q96NK8	NDF6_HUMAN			2	473	-			51					Q548T9|Q9H3H6	Frame_Shift_Del	DEL	ENST00000297142.3	37	c.151delG	CCDS5434.1																																																																																				0.448	NEUROD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215050.1	NM_022728		16	32						16	32	---	---	---	---	-	31378732	C	-	31378732	7	5	373	1	0	1	0	1	0	0	0	0	10351	739	26	0	866	0	NEUROD6	7	31378732	Frame_Shift_Del	DEL	C	TCGA-V1-A8MM-01A-11D-A377-08		31378732	127759931	10	18470											
PMP2	5375	broad.mit.edu	37	chr8	82355665	82355665	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atagattctggtgcacaccaCgcccttcattttacattcct	9	14	5	13	1	2	1	1	0	1	1	3	1	3	1	3	1	2	1	3	1	2	6			TCGA-V1-A8MM-01A-11D-A377-08	TCGA-V1-A8MM-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	508c5ad2-f778-4997-84bb-f8a060fc3286	68397e1f-276f-4831-b395-7aec3cffaf4e	g.chr8:82355665C>T	ENST00000256103.2	-	4	503	c.367G>A	c.(367-369)Gtg>Atg	p.V123M	PMP2_ENST00000519260.1_3'UTR|RP11-157I4.4_ENST00000524085.2_RNA	NM_002677.3	NP_002668.1	P02689	MYP2_HUMAN	peripheral myelin protein 2	123					membrane organization (GO:0061024)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	cholesterol binding (GO:0015485)|fatty acid binding (GO:0005504)|transporter activity (GO:0005215)			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)	6			Epithelial(68;0.186)			GTGCACACCACGCCCTTCATT	0.313																																						ENST00000256103.2																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(3)	6						c.(367-369)Gtg>Atg		peripheral myelin protein 2							103	103	103					8																	82355665		2203	4297	6500	SO:0001583	missense	5375					cytoplasm	cholesterol binding|fatty acid binding|transporter activity	g.chr8:82355665C>T	X62167	CCDS6229.1	8q21.3-q22.1	2013-03-01			ENSG00000147588	ENSG00000147588		"Fatty acid binding protein family"	9117	protein-coding gene	gene with protein product		170715				1720307, 8288226	Standard	NM_002677		Approved	MP2, FABP8, M-FABP	uc003ycb.1	P02689	OTTHUMG00000164600	ENST00000256103.2:c.367G>A	8.37:g.82355665C>T	ENSP00000256103:p.Val123Met					RP11-157I4.4_ENST00000524085.2_RNA|PMP2_ENST00000519260.1_3'UTR	p.V123M	NM_002677.3	NP_002668.1	P02689	MYP2_HUMAN	Epithelial(68;0.186)		4	503	-			123					Q6FHL4	Missense_Mutation	SNP	ENST00000256103.2	37	c.367G>A	CCDS6229.1	.	.	.	.	.	.	.	.	.	.	C	19.35	3.810970	0.70797	.	.	ENSG00000147588	ENST00000256103	T	0.09350	2.99	5.29	4.37	0.52481	Calycin-like (1);Cytosolic fatty-acid binding (1);Lipocalin/cytosolic fatty-acid binding protein domain (1);Calycin (1);	0.062187	0.64402	D	0.000004	T	0.33818	0.0876	M	0.90082	3.085	0.80722	D	1	D	0.58970	0.984	P	0.59643	0.861	T	0.30446	-0.9978	10	0.87932	D	0	.	10.7465	0.46183	0.0:0.9048:0.0:0.0952	.	123	P02689	MYP2_HUMAN	M	123	ENSP00000256103:V123M	ENSP00000256103:V123M	V	-	1	0	PMP2	82518220	0.003000	0.15002	0.977000	0.42913	0.968000	0.65278	0.431000	0.21444	1.302000	0.44855	0.585000	0.79938	GTG		0.313	PMP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379365.1	NM_002677		128	67	0	0	0	1	0	128	67					T	82355665	C	T	82355665	3	4	373	1	0	0	0	0	1	0	0	0	12138	536	19	1	35	1	PMP2	8	82355665	Missense_Mutation	SNP	C	TCGA-V1-A8MM-01A-11D-A377-08		82355665	64008357	11	18471											
PTPRD	5789	broad.mit.edu	37	chr9	8521460	8521460	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ataaggcattggtgaccccaCggccacacaggtgatattaa	13	8	10	10	1	0	2	0	2	0	0	0	2	0	2	3	4	0	1	3	4	3	4			TCGA-V1-A8MM-01A-11D-A377-08	TCGA-V1-A8MM-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	508c5ad2-f778-4997-84bb-f8a060fc3286	68397e1f-276f-4831-b395-7aec3cffaf4e	g.chr9:8521460C>T	ENST00000381196.4	-	17	1321	c.778G>A	c.(778-780)Gtg>Atg	p.V260M	PTPRD_ENST00000358503.5_Missense_Mutation_p.V247M|PTPRD_ENST00000355233.5_Missense_Mutation_p.V260M|PTPRD_ENST00000486161.1_Missense_Mutation_p.V260M|PTPRD_ENST00000397617.3_Missense_Mutation_p.V250M|PTPRD_ENST00000540109.1_Missense_Mutation_p.V260M|PTPRD_ENST00000356435.5_Missense_Mutation_p.V260M|PTPRD_ENST00000397606.3_Missense_Mutation_p.V250M|PTPRD_ENST00000397611.3_Missense_Mutation_p.V257M|PTPRD_ENST00000537002.1_Missense_Mutation_p.V257M|PTPRD_ENST00000360074.4_Missense_Mutation_p.V247M	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	260	Ig-like C2-type 3.				heterophilic cell-cell adhesion (GO:0007157)|neuron differentiation (GO:0030182)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|positive regulation of dendrite morphogenesis (GO:0050775)|presynaptic membrane assembly (GO:0097105)|protein dephosphorylation (GO:0006470)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	cell adhesion molecule binding (GO:0050839)|receptor binding (GO:0005102)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		GGTGACCCCACGGCCACACAG	0.473										TSP Lung(15;0.13)																												ENST00000381196.4																			0				NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168						c.(778-780)Gtg>Atg		protein tyrosine phosphatase, receptor type, D							149	130	136					9																	8521460		2203	4300	6503	SO:0001583	missense	5789				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr9:8521460C>T	X54133	CCDS6472.1, CCDS43786.1, CCDS6472.2, CCDS55288.1, CCDS55289.1, CCDS55290.1, CCDS75813.1	9p24.1-p23	2013-02-11			ENSG00000153707	ENSG00000153707		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	9668	protein-coding gene	gene with protein product		601598				7896816, 8355697	Standard	NM_002839		Approved	PTPD, HPTP	uc003zkk.3	P23468	OTTHUMG00000021005	ENST00000381196.4:c.778G>A	9.37:g.8521460C>T	ENSP00000370593:p.Val260Met	TSP Lung(15;0.13)				PTPRD_ENST00000540109.1_Missense_Mutation_p.V260M|PTPRD_ENST00000360074.4_Missense_Mutation_p.V247M|PTPRD_ENST00000537002.1_Missense_Mutation_p.V257M|PTPRD_ENST00000358503.5_Missense_Mutation_p.V247M|PTPRD_ENST00000486161.1_Missense_Mutation_p.V260M|PTPRD_ENST00000356435.5_Missense_Mutation_p.V260M|PTPRD_ENST00000355233.5_Missense_Mutation_p.V260M|PTPRD_ENST00000397606.3_Missense_Mutation_p.V250M|PTPRD_ENST00000397611.3_Missense_Mutation_p.V257M|PTPRD_ENST00000397617.3_Missense_Mutation_p.V250M	p.V260M	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)	17	1321	-		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)	260			Ig-like C2-type 3.		B1ALA0|F5GWT7|Q3KPJ0|Q3KPJ1|Q3KPJ2	Missense_Mutation	SNP	ENST00000381196.4	37	c.778G>A	CCDS43786.1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.436326	0.83885	.	.	ENSG00000153707	ENST00000381196;ENST00000356435;ENST00000360074;ENST00000358503;ENST00000355233;ENST00000397617;ENST00000397611;ENST00000537002;ENST00000346816;ENST00000540109;ENST00000486161;ENST00000397606	T;T;T;T;T;T;T;T;T;T;T	0.67171	-0.25;-0.25;-0.25;-0.25;-0.25;-0.25;-0.25;-0.25;-0.25;-0.25;-0.25	5.81	5.81	0.92471	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.82577	0.5067	M	0.73962	2.25	0.58432	D	0.999999	D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D	0.91635	0.999;0.999;0.996;0.997;0.973;0.973;0.993;0.999;0.994	T	0.81210	-0.1036	9	.	.	.	.	20.0763	0.97746	0.0:1.0:0.0:0.0	.	250;254;260;260;257;257;247;260;260	Q3KPJ2;Q3KPI9;Q3KPJ0;Q3KPJ1;F5GWT7;F5GWY7;G3XAE2;Q2HXI4;P23468	.;.;.;.;.;.;.;.;PTPRD_HUMAN	M	260;260;247;247;260;250;257;257;260;260;260;250	ENSP00000370593:V260M;ENSP00000348812:V260M;ENSP00000353187:V247M;ENSP00000351293:V247M;ENSP00000347373:V260M;ENSP00000380741:V250M;ENSP00000380735:V257M;ENSP00000440515:V257M;ENSP00000438164:V260M;ENSP00000417093:V260M;ENSP00000380731:V250M	.	V	-	1	0	PTPRD	8511460	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.044000	0.71012	2.756000	0.94617	0.655000	0.94253	GTG		0.473	PTPRD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055395.3			3	58	0	0	0	1	0	3	58					T	8521460	C	T	8521460	3	4	373	1	0	0	0	0	1	0	0	0	12799	536	19	1	5136	1	PTPRD	9	8521460	Missense_Mutation	SNP	C	TCGA-V1-A8MM-01A-11D-A377-08		8521460	132691971	12	18472											
DAPK1	1612	broad.mit.edu	37	chr9	90219898	90219898	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcggttgtgaagaaatgccGtgagaaaagcaccggcctcc	11	7	13	10	3	0	3	0	2	0	2	1	4	1	3	4	2	3	2	4	2	4	1			TCGA-V1-A8MM-01A-11D-A377-08	TCGA-V1-A8MM-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	508c5ad2-f778-4997-84bb-f8a060fc3286	68397e1f-276f-4831-b395-7aec3cffaf4e	g.chr9:90219898G>A	ENST00000408954.3	+	3	427	c.92G>A	c.(91-93)cGt>cAt	p.R31H	DAPK1_ENST00000491893.1_Missense_Mutation_p.R31H|DAPK1_ENST00000358077.5_Missense_Mutation_p.R31H|DAPK1_ENST00000469640.2_Missense_Mutation_p.R31H|DAPK1_ENST00000472284.1_Missense_Mutation_p.R31H	NM_004938.2	NP_004929.2	P53355	DAPK1_HUMAN	death-associated protein kinase 1	31	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cellular response to interferon-gamma (GO:0071346)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|intracellular signal transduction (GO:0035556)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of translation (GO:0017148)|positive regulation of apoptotic process (GO:0043065)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of apoptotic process (GO:0042981)|regulation of autophagy (GO:0010506)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|calmodulin-dependent protein kinase activity (GO:0004683)|identical protein binding (GO:0042802)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.R31H(2)		breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(27)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(3)|stomach(1)	72						AAGAAATGCCGTGAGAAAAGC	0.502									Chronic Lymphocytic Leukemia, Familial Clustering of																													ENST00000469640.2																			2	Substitution - Missense(2)	p.R31H(2)	large_intestine(2)	breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(27)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(3)|stomach(1)	72						c.(91-93)cGt>cAt		death-associated protein kinase 1							34	35	35					9																	90219898		2019	4200	6219	SO:0001583	missense	1612	Chronic Lymphocytic Leukemia, Familial Clustering of	Familial Cancer Database	Familial CLL	apoptosis|induction of apoptosis by extracellular signals|intracellular protein kinase cascade	actin cytoskeleton|cytoplasm	ATP binding|calmodulin binding|protein serine/threonine kinase activity	g.chr9:90219898G>A	X76104	CCDS43842.1	9q34.1	2013-01-10			ENSG00000196730	ENSG00000196730		"Ankyrin repeat domain containing"	2674	protein-coding gene	gene with protein product		600831				8530096	Standard	XM_005251757		Approved	DAPK	uc004apd.3	P53355	OTTHUMG00000020150	ENST00000408954.3:c.92G>A	9.37:g.90219898G>A	ENSP00000386135:p.Arg31His					DAPK1_ENST00000408954.3_Missense_Mutation_p.R31H|DAPK1_ENST00000491893.1_Missense_Mutation_p.R31H|DAPK1_ENST00000358077.5_Missense_Mutation_p.R31H|DAPK1_ENST00000472284.1_Missense_Mutation_p.R31H	p.R31H			P53355	DAPK1_HUMAN			3	467	+			31			Protein kinase.		B7ZLD2|B7ZLE7|Q14CQ7|Q1W5W0|Q68CP8|Q6ZRZ3|Q9BTL8	Missense_Mutation	SNP	ENST00000408954.3	37	c.92G>A	CCDS43842.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.198432	0.79015	.	.	ENSG00000196730	ENST00000358077;ENST00000472284;ENST00000469640;ENST00000408954;ENST00000491893	T;T;T;T;T	0.42900	0.96;0.96;0.96;0.96;0.96	5.04	5.04	0.67666	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.155687	0.30959	N	0.008523	T	0.49047	0.1534	L	0.31578	0.945	0.80722	D	1	D;D;D	0.89917	1.0;0.991;0.986	D;P;P	0.68621	0.959;0.681;0.567	T	0.48043	-0.9069	10	0.62326	D	0.03	.	11.0484	0.47872	0.0843:0.0:0.9157:0.0	.	31;31;31	B7ZLE7;B7Z454;P53355	.;.;DAPK1_HUMAN	H	31	ENSP00000350785:R31H;ENSP00000417076:R31H;ENSP00000418885:R31H;ENSP00000386135:R31H;ENSP00000419026:R31H	ENSP00000350785:R31H	R	+	2	0	DAPK1	89409718	1.000000	0.71417	0.989000	0.46669	0.814000	0.46013	7.676000	0.84012	2.628000	0.89032	0.511000	0.50034	CGT		0.502	DAPK1-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356843.1	NM_004938		4	7	0	0	0	1	0	4	7					A	90219898	G	A	90219898	3	1	373	1	0	0	0	0	1	0	0	0	4235	1145	40	1	98	1	DAPK1	9	90219898	Missense_Mutation	SNP	G	TCGA-V1-A8MM-01A-11D-A377-08	81698438	90219898	50993533	13	18473											
KRTAP5-1	387264	broad.mit.edu	37	chr11	1606150	1606150	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccttggatcccccacaagaGccacagccccccttggagcc	8	5	8	20	0	0	1	0	0	0	1	1	3	1	3	8	2	3	0	8	2	1	2			TCGA-V1-A8MM-01A-11D-A377-08	TCGA-V1-A8MM-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	508c5ad2-f778-4997-84bb-f8a060fc3286	68397e1f-276f-4831-b395-7aec3cffaf4e	g.chr11:1606150G>A	ENST00000382171.2	-	1	363	c.330C>T	c.(328-330)ggC>ggT	p.G110G	KRTAP5-AS1_ENST00000424148.1_RNA|KRTAP5-AS1_ENST00000524947.1_RNA|KRTAP5-AS1_ENST00000534077.1_RNA|KRTAP5-AS1_ENST00000532922.1_RNA	NM_001005922.1	NP_001005922.1	Q6L8H4	KRA51_HUMAN	keratin associated protein 5-1	110	8 X 4 AA repeats of C-C-X-P.					keratin filament (GO:0045095)				endometrium(3)|kidney(1)|lung(9)|skin(2)|upper_aerodigestive_tract(1)	16		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		CCCCACAAGAGCCACAGCCCC	0.667																																						ENST00000382171.2																			0				endometrium(3)|kidney(1)|lung(9)|skin(2)|upper_aerodigestive_tract(1)	16						c.(328-330)ggC>ggT		keratin associated protein 5-1							28	40	36					11																	1606150		2036	4035	6071	SO:0001819	synonymous_variant	387264					keratin filament		g.chr11:1606150G>A	AB126070	CCDS31330.1	11p15.5	2008-02-05			ENSG00000205869	ENSG00000205869		"Keratin associated proteins"	23596	protein-coding gene	gene with protein product		148022	"keratin, cuticle, ultrahigh sulphur 1-like"	KRN1L		15144888	Standard	NM_001005922		Approved	KRTAP5.1	uc001ltu.1	Q6L8H4	OTTHUMG00000057557	ENST00000382171.2:c.330C>T	11.37:g.1606150G>A						KRTAP5-AS1_ENST00000524947.1_RNA|KRTAP5-AS1_ENST00000534077.1_RNA|KRTAP5-AS1_ENST00000532922.1_RNA|KRTAP5-AS1_ENST00000424148.1_RNA	p.G110G	NM_001005922.1	NP_001005922.1	Q6L8H4	KRA51_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)	1	363	-		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	110			8 X 4 AA repeats of C-C-X-P.			Silent	SNP	ENST00000382171.2	37	c.330C>T	CCDS31330.1																																																																																				0.667	KRTAP5-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127922.1	NM_001005922		6	32	0	0	0	1	0	6	32					A	1606150	G	A	1606150	2	1	373	1	0	0	0	0	0	0	0	1	8558	958	34	3		3	KRTAP5-1	11	1606150	Silent	SNP	G	TCGA-V1-A8MM-01A-11D-A377-08		1606150	133400366	14	18474											
OR6X1	390260	broad.mit.edu	37	chr11	123625199	123625199	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aggaaagcctagcaggatgaAttctgtgattactgtgccat	12	11	11	7	0	1	2	0	2	1	0	1	4	1	4	2	2	4	1	2	2	4	3			TCGA-V1-A8MM-01A-11D-A377-08	TCGA-V1-A8MM-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	508c5ad2-f778-4997-84bb-f8a060fc3286	68397e1f-276f-4831-b395-7aec3cffaf4e	g.chr11:123625199A>C	ENST00000327930.2	-	1	54	c.28T>G	c.(28-30)Ttc>Gtc	p.F10V		NM_001005188.1	NP_001005188.1	Q8NH79	OR6X1_HUMAN	olfactory receptor, family 6, subfamily X, member 1	10						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(3)|endometrium(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)	23		Breast(109;0.0109)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		AGCAGGATGAATTCTGTGATT	0.413																																						ENST00000327930.2																			0				breast(3)|endometrium(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)	23						c.(28-30)Ttc>Gtc		olfactory receptor, family 6, subfamily X, member 1							100	93	95					11																	123625199		2199	4287	6486	SO:0001583	missense	390260				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:123625199A>C	AB065510	CCDS31695.1	11q24.1	2012-08-09			ENSG00000221931	ENSG00000221931		"GPCR / Class A : Olfactory receptors"	14737	protein-coding gene	gene with protein product							Standard	NM_001005188		Approved		uc010rzy.2	Q8NH79	OTTHUMG00000166011	ENST00000327930.2:c.28T>G	11.37:g.123625199A>C	ENSP00000333724:p.Phe10Val						p.F10V	NM_001005188.1	NP_001005188.1	Q8NH79	OR6X1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)	1	54	-		Breast(109;0.0109)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)	10					B9EGW9|Q6IFA0	Missense_Mutation	SNP	ENST00000327930.2	37	c.28T>G	CCDS31695.1	.	.	.	.	.	.	.	.	.	.	A	15.76	2.928490	0.52759	.	.	ENSG00000221931	ENST00000327930	T	0.04551	3.6	4.24	4.24	0.50183	.	.	.	.	.	T	0.26629	0.0651	M	0.92317	3.295	0.36974	D	0.89396	D	0.71674	0.998	D	0.78314	0.991	T	0.41288	-0.9517	9	0.87932	D	0	-20.6153	11.3316	0.49479	1.0:0.0:0.0:0.0	.	10	Q8NH79	OR6X1_HUMAN	V	10	ENSP00000333724:F10V	ENSP00000333724:F10V	F	-	1	0	OR6X1	123130409	0.910000	0.30920	0.997000	0.53966	0.576000	0.36127	1.832000	0.39151	1.794000	0.52575	0.477000	0.44152	TTC		0.413	OR6X1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387436.1	NM_001005188		32	41	0	0	0	1	0	32	41					C	123625199	A	C	123625199	3	2	373	1	0	0	0	0	1	0	0	0	11212	101	4	5	912	5	OR6X1	11	123625199	Missense_Mutation	SNP	A	TCGA-V1-A8MM-01A-11D-A377-08	122019049	123625199	11381317	15	18475											
KCNJ5	3762	broad.mit.edu	37	chr11	128786546	128786546	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggggctgtgctgaggcagggCtggatgcagaggctgagcag	7	6	21	7	0	0	3	0	2	0	1	0	4	0	4	0	6	3	7	0	6	0	0			TCGA-V1-A8MM-01A-11D-A377-08	TCGA-V1-A8MM-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	508c5ad2-f778-4997-84bb-f8a060fc3286	68397e1f-276f-4831-b395-7aec3cffaf4e	g.chr11:128786546C>T	ENST00000338350.4	+	4	1532	c.1180C>T	c.(1180-1182)Ctg>Ttg	p.L394L	KCNJ5_ENST00000533599.1_Silent_p.L394L|KCNJ5_ENST00000529694.1_Silent_p.L394L			P48544	KCNJ5_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 5	394					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	G-protein activated inward rectifier potassium channel activity (GO:0015467)			NS(1)|breast(1)|endometrium(4)|large_intestine(4)|liver(2)|lung(9)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	26	all_hematologic(175;0.0641)	Lung NSC(97;0.00038)|all_lung(97;0.000817)|Breast(109;0.00123)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0059)|LUSC - Lung squamous cell carcinoma(976;0.021)|Lung(977;0.0215)	Glyburide(DB01016)	TGAGGCAGGGCTGGATGCAGA	0.652																																					Pancreas(108;2548 5082)|Esophageal Squamous(165;4544 6231)	ENST00000529694.1																			0				NS(1)|breast(1)|endometrium(4)|large_intestine(4)|liver(2)|lung(9)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	26						c.(1180-1182)Ctg>Ttg		potassium inwardly-rectifying channel, subfamily J, member 5	Glibenclamide(DB01016)						25	27	26					11																	128786546		2198	4297	6495	SO:0001819	synonymous_variant	3762				synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding	g.chr11:128786546C>T	D50134	CCDS8479.1	11q24	2014-09-17				ENSG00000120457		"Potassium channels", "Voltage-gated ion channels / Potassium channels, Inwardly rectifying"	6266	protein-coding gene	gene with protein product		600734				16382105	Standard	NM_000890		Approved	Kir3.4, CIR, KATP1, GIRK4, LQT13	uc001qet.3	P48544		ENST00000338350.4:c.1180C>T	11.37:g.128786546C>T						KCNJ5_ENST00000533599.1_Silent_p.L394L|KCNJ5_ENST00000338350.4_Silent_p.L394L	p.L394L	NM_000890.3	NP_000881.3	P48544	IRK5_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.0059)|LUSC - Lung squamous cell carcinoma(976;0.021)|Lung(977;0.0215)	3	1556	+	all_hematologic(175;0.0641)	Lung NSC(97;0.00038)|all_lung(97;0.000817)|Breast(109;0.00123)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)	394					B2R744|Q6DK13|Q6DK14|Q92807	Silent	SNP	ENST00000338350.4	37	c.1180C>T	CCDS8479.1																																																																																				0.652	KCNJ5-003	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000386239.1	NM_000890		5	23	0	0	0	1	0	5	23					T	128786546	C	T	128786546	2	4	373	1	0	0	0	0	0	0	0	1	8054	796	28	3		3	KCNJ5	11	128786546	Silent	SNP	C	TCGA-V1-A8MM-01A-11D-A377-08	5161347	128786546	6219970	16	18476											
PRB3	5544	broad.mit.edu	37	chr12	11420521	11420521	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtccttctggctttcccggaCgaggtgggggaccttgggac	4	10	16	11	2	1	0	0	0	1	0	3	4	3	3	3	6	0	1	3	6	0	3	rs113884749		TCGA-V1-A8MM-01A-11D-A377-08	TCGA-V1-A8MM-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	508c5ad2-f778-4997-84bb-f8a060fc3286	68397e1f-276f-4831-b395-7aec3cffaf4e	g.chr12:11420521C>T	ENST00000279573.7	-	3	797	c.662G>A	c.(661-663)cGt>cAt	p.R221H	PRB3_ENST00000440870.3_Intron|PRB3_ENST00000381842.3_Intron|PRB3_ENST00000538488.1_Missense_Mutation_p.R200H			Q04118	PRB3_HUMAN	proline-rich protein BstNI subfamily 3	221	10 X 21 AA tandem repeats of [RH]-P-G-K- P-[EQ]-G-[PQS]-P-[PS]-Q-[GE]-G-N-[QK]- [SP]-[QR]-[GR]-P-P-P.|Pro-rich.				defense response to Gram-negative bacterium (GO:0050829)	extracellular region (GO:0005576)				breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(5)	25			OV - Ovarian serous cystadenocarcinoma(49;0.201)			CTTTCCCGGACGAGGTGGGGG	0.622																																						ENST00000381842.3																			0				breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(5)	25								proline-rich protein BstNI subfamily 3							68	41	50					12																	11420521		1675	3302	4977	SO:0001583	missense	5544					extracellular region	Gram-negative bacterial cell surface binding	g.chr12:11420521C>T			12p13.2	2012-10-02				ENSG00000197870			9339	protein-coding gene	gene with protein product		168840				1894623	Standard	NM_006249		Approved	PRG	uc001qzs.3	Q04118		ENST00000279573.7:c.662G>A	12.37:g.11420521C>T	ENSP00000279573:p.Arg221His					PRB3_ENST00000279573.6_RNA|PRB3_ENST00000440870.3_RNA|PRB3_ENST00000538488.1_RNA		NM_006249.4	NP_006240.4	Q04118	PRB3_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;0.201)		0	642	-								Q15188|Q4VAY3|Q4VAY4|Q7M4M9|Q9UCT9	RNA	SNP	ENST00000279573.7	37			.	.	.	.	.	.	.	.	.	.	.	0.003	-2.434661	0.00182	.	.	ENSG00000197870	ENST00000538488	T	0.04970	3.52	1.25	-2.5	0.06384	.	.	.	.	.	T	0.04770	0.0129	.	.	.	0.09310	N	1	B	0.09022	0.002	B	0.01281	0.0	T	0.31503	-0.9941	8	0.44086	T	0.13	.	5.2128	0.15327	0.0:0.2923:0.2001:0.5076	.	221	Q04118	PRB3_HUMAN	H	200	ENSP00000442626:R200H	ENSP00000442626:R200H	R	-	2	0	PRB3	11311788	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-1.014000	0.03641	-3.877000	0.00096	-2.888000	0.00096	CGT		0.622	PRB3-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000402119.5	NM_006249		4	110	0	0	0	1	0	4	110					T	11420521	C	T	11420521	3	4	373	1	0	0	0	0	1	0	0	0	12444	536	19	1	275	1	PRB3	12	11420521	Missense_Mutation	SNP	C	TCGA-V1-A8MM-01A-11D-A377-08		11420521	122431374	17	18477											
MLL2	8085	broad.mit.edu	37	chr12	49447049	49447050	+	Frame_Shift_Del	DEL	GG	GG	-																															tggttttaggcagaaagtatGgtatcctttgtcacacgtct																										TCGA-V1-A8MM-01A-11D-A377-08	TCGA-V1-A8MM-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	508c5ad2-f778-4997-84bb-f8a060fc3286	68397e1f-276f-4831-b395-7aec3cffaf4e	g.chr12:49447049_49447050delGG	ENST00000301067.7	-	7	893_894	c.894_895delCC	c.(892-897)taccatfs	p.YH298fs		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	298	Cys-rich.				chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)										CAGAAAGTATGGTATCCTTTGT	0.48																																						ENST00000301067.7																			0											c.(892-897)taatfs		lysine (K)-specific methyltransferase 2D																																				SO:0001589	frameshift_variant	8085							g.chr12:49447049_49447050delGG	AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	7133	protein-coding gene	gene with protein product		602113	"trinucleotide repeat containing 21", "myeloid/lymphoid or mixed-lineage leukemia 2"	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.894_895delCC	12.37:g.49447049_49447050delGG	ENSP00000301067:p.Tyr298fs						p.YH298fs	NM_003482.3	NP_003473.3					7	893_894	-								O14687	Frame_Shift_Del	DEL	ENST00000301067.7	37	c.894_895delCC	CCDS44873.1																																																																																				0.48	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2			25	60						25	60	---	---	---	---	-	49447050	GG	-	49447049	7	5	373	1	0	1	0	1	0	0	0	0	9621	1348	47	0	15910	0	MLL2	12	49447049	Frame_Shift_Del	DEL	GG	TCGA-V1-A8MM-01A-11D-A377-08	38026528	49447049	84404846	18	18478											
FOXA1	3169	broad.mit.edu	37	chr14	38061233	38061241	+	In_Frame_Del	DEL	GTTGCCGGA	GTTGCCGGA	-																															tagcagccgttctcgaacatGttgccggagtccgggtgcag																								rs539948672|rs202209403		TCGA-V1-A8MM-01A-11D-A377-08	TCGA-V1-A8MM-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	508c5ad2-f778-4997-84bb-f8a060fc3286	68397e1f-276f-4831-b395-7aec3cffaf4e	g.chr14:38061233_38061241delGTTGCCGGA	ENST00000250448.2	-	2	809_817	c.748_756delTCCGGCAAC	c.(748-756)tccggcaacdel	p.SGN250del	FOXA1_ENST00000545425.2_5'UTR|FOXA1_ENST00000540786.1_In_Frame_Del_p.SGN217del	NM_004496.3	NP_004487.2	P55317	FOXA1_HUMAN	forkhead box A1	250					anatomical structure formation involved in morphogenesis (GO:0048646)|chromatin remodeling (GO:0006338)|dorsal/ventral neural tube patterning (GO:0021904)|epithelial cell maturation involved in prostate gland development (GO:0060743)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|epithelial-mesenchymal signaling involved in prostate gland development (GO:0060738)|glucose homeostasis (GO:0042593)|hormone metabolic process (GO:0042445)|lung epithelial cell differentiation (GO:0060487)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron fate specification (GO:0048665)|positive regulation of cell-cell adhesion mediated by cadherin (GO:2000049)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prostate gland epithelium morphogenesis (GO:0060740)|prostate gland stromal morphogenesis (GO:0060741)|response to estradiol (GO:0032355)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)	microvillus (GO:0005902)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|endometrium(1)|large_intestine(2)|lung(3)|prostate(12)	19	Breast(36;0.0954)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		Lung(238;5.41e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0454)|LUSC - Lung squamous cell carcinoma(13;0.0917)|all cancers(34;0.0925)|BRCA - Breast invasive adenocarcinoma(188;0.239)	GBM - Glioblastoma multiforme(112;0.0222)		TCTCGAACATGTTGCCGGAGTCCGGGTGC	0.684																																						ENST00000250448.2																			0				breast(1)|endometrium(1)|large_intestine(2)|lung(3)|prostate(12)	19						c.(748-756)del		forkhead box A1																																				SO:0001651	inframe_deletion	3169				chromatin remodeling|embryo development|epithelial cell maturation involved in prostate gland development|epithelial tube branching involved in lung morphogenesis|epithelial-mesenchymal signaling involved in prostate gland development|glucose homeostasis|lung epithelial cell differentiation|negative regulation of survival gene product expression|neuron fate specification|pattern specification process|positive regulation of estrogen receptor signaling pathway|positive regulation of mitotic cell cycle|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|prostate gland epithelium morphogenesis|prostate gland stromal morphogenesis|response to estradiol stimulus|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development	transcription factor complex	DNA bending activity|double-stranded DNA binding|protein domain specific binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding	g.chr14:38061233_38061241delGTTGCCGGA	U39840	CCDS9665.1	14q12-q13	2008-04-10		2002-09-20	ENSG00000129514	ENSG00000129514		"Forkhead boxes"	5021	protein-coding gene	gene with protein product		602294	"hepatocyte nuclear factor 3, alpha"	HNF3A		9119385, 8652662	Standard	NM_004496		Approved		uc001wuf.4	P55317	OTTHUMG00000140253	ENST00000250448.2:c.748_756delTCCGGCAAC	14.37:g.38061233_38061241delGTTGCCGGA	ENSP00000250448:p.Ser250_Asn252del					FOXA1_ENST00000540786.1_In_Frame_Del_p.SGN217del|FOXA1_ENST00000545425.2_5'UTR	p.SGN250del	NM_004496.3	NP_004487.2	P55317	FOXA1_HUMAN	Lung(238;5.41e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0454)|LUSC - Lung squamous cell carcinoma(13;0.0917)|all cancers(34;0.0925)|BRCA - Breast invasive adenocarcinoma(188;0.239)	GBM - Glioblastoma multiforme(112;0.0222)	2	809_817	-	Breast(36;0.0954)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		250					B2R9H6|B7ZAP5|Q9H2A0	In_Frame_Del	DEL	ENST00000250448.2	37	c.748_756delTCCGGCAAC	CCDS9665.1																																																																																				0.684	FOXA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276735.1			9	18						9	18	---	---	---	---	-	38061241	GTTGCCGGA	-	38061233	7	5	373	1	0	1	0	1	0	0	0	0	5989	1368	48	0	666	0	FOXA1	14	38061233	In_Frame_Del	DEL	GTTGCCGGA	TCGA-V1-A8MM-01A-11D-A377-08		38061233	69288307	19	18479											
SMG1	23049	broad.mit.edu	37	chr16	18937330	18937330	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccgccgccgccgccgccgcTgctcagccgagaccccgggg	3	2	15	21	8	1	1	1	0	0	1	1	2	1	1	9	2	2	2	9	2	0	0	rs190057031	byFrequency	TCGA-V1-A8MM-01A-11D-A377-08	TCGA-V1-A8MM-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	508c5ad2-f778-4997-84bb-f8a060fc3286	68397e1f-276f-4831-b395-7aec3cffaf4e	g.chr16:18937330T>C	ENST00000446231.2	-	1	446	c.34A>G	c.(34-36)Agc>Ggc	p.S12G	SMG1_ENST00000567737.1_5'UTR|CTD-2288F12.1_ENST00000565782.1_RNA|SMG1_ENST00000389467.3_Missense_Mutation_p.S12G			Q96Q15	SMG1_HUMAN	SMG1 phosphatidylinositol 3-kinase-related kinase	12	Interaction with SMG8 and SMG9.				DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol phosphorylation (GO:0046854)|protein autophosphorylation (GO:0046777)|response to stress (GO:0006950)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						ccgccgccgctgcTCAGCCGA	0.736													T|||	19	0.00379393	0.0038	0.0072	5008	,	,		9587	0.001		0.006	False		,,,				2504	0.002					ENST00000446231.2																			0				NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						c.(34-36)Agc>Ggc		SMG1 phosphatidylinositol 3-kinase-related kinase							3	5	4					16																	18937330		1189	3103	4292	SO:0001583	missense	23049				DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation	cytoplasm|nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr16:18937330T>C	AB061371	CCDS45430.1	16p12.3	2013-07-02	2013-07-02		ENSG00000157106	ENSG00000157106			30045	protein-coding gene	gene with protein product	"phosphatidylinositol 3-kinase-related kinase"	607032	"smg-1 homolog, phosphatidylinositol 3-kinase-related kinase (C. elegans)"			9455477, 11331269, 17229728	Standard	NM_015092		Approved	LIP, KIAA0421, ATX	uc002dfm.3	Q96Q15	OTTHUMG00000166900	ENST00000446231.2:c.34A>G	16.37:g.18937330T>C	ENSP00000402515:p.Ser12Gly					SMG1_ENST00000567737.1_5'UTR|SMG1_ENST00000389467.3_Missense_Mutation_p.S12G	p.S12G			Q96Q15	SMG1_HUMAN			1	446	-			12			Interaction with SMG8 and SMG9.		O43305|Q13284|Q8NFX2|Q96QV0|Q96RW3	Missense_Mutation	SNP	ENST00000446231.2	37	c.34A>G	CCDS45430.1	56	0.02564102564102564	34	0.06910569105691057	10	0.027624309392265192	3	0.005244755244755245	9	0.011873350923482849	t	16.40	3.112756	0.56398	.	.	ENSG00000157106	ENST00000446231;ENST00000389467	T;T	0.01252	5.1;5.1	4.19	4.19	0.49359	.	0.256528	0.31134	N	0.008187	T	0.00144	0.0004	N	0.19112	0.55	0.30658	N	0.754677	B	0.02656	0.0	B	0.01281	0.0	T	0.32348	-0.9910	10	0.72032	D	0.01	.	6.7847	0.23668	0.0:0.1536:0.0:0.8464	.	12	Q96Q15	SMG1_HUMAN	G	12	ENSP00000402515:S12G;ENSP00000374118:S12G	ENSP00000374118:S12G	S	-	1	0	SMG1	18844831	1.000000	0.71417	0.999000	0.59377	0.967000	0.64934	2.875000	0.48491	1.749000	0.51849	0.374000	0.22700	AGC		0.736	SMG1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000391817.1	NM_015092		3	6	0	0	0	1	0	3	6					C	18937330	T	C	18937330	3	2	373	1	0	0	0	0	1	0	0	0	14795	1580	55	4	11203	4	SMG1	16	18937330	Missense_Mutation	SNP	T	TCGA-V1-A8MM-01A-11D-A377-08		18937330	71417423	20	18480											
MYH1	4619	broad.mit.edu	37	chr17	10397685	10397685	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actcaccgcttcttcagcttGtctcttgtaggatttcacct	6	16	6	13	1	5	0	3	0	2	0	6	1	5	1	2	1	1	3	2	1	1	6	rs140473978		TCGA-V1-A8MM-01A-11D-A377-08	TCGA-V1-A8MM-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	508c5ad2-f778-4997-84bb-f8a060fc3286	68397e1f-276f-4831-b395-7aec3cffaf4e	g.chr17:10397685G>C	ENST00000226207.5	-	39	5747	c.5653C>G	c.(5653-5655)Caa>Gaa	p.Q1885E	RP11-799N11.1_ENST00000399342.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|CTC-297N7.11_ENST00000587182.2_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	1885					muscle contraction (GO:0006936)	A band (GO:0031672)|cytoplasmic ribonucleoprotein granule (GO:0036464)|intercalated disc (GO:0014704)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						TCTTCAGCTTGTCTCTTGTAG	0.428																																						ENST00000226207.5																			0				NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						c.(5653-5655)Caa>Gaa		myosin, heavy chain 1, skeletal muscle, adult							142	146	145					17																	10397685		2203	4300	6503	SO:0001583	missense	4619					muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity	g.chr17:10397685G>C		CCDS11155.1	17p13.1	2013-09-19	2006-09-29		ENSG00000109061	ENSG00000109061		"Myosins / Myosin superfamily : Class II"	7567	protein-coding gene	gene with protein product	"myosin heavy chain IIx/d"	160730	"myosin, heavy polypeptide 1, skeletal muscle, adult"			6304733	Standard	NM_005963		Approved	MYHSA1, MYHa, MyHC-2X/D, MGC133384	uc002gmo.3	P12882	OTTHUMG00000130362	ENST00000226207.5:c.5653C>G	17.37:g.10397685G>C	ENSP00000226207:p.Gln1885Glu					CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	p.Q1885E	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN			39	5747	-			1885					Q14CA4|Q9Y622	Missense_Mutation	SNP	ENST00000226207.5	37	c.5653C>G	CCDS11155.1	.	.	.	.	.	.	.	.	.	.	G	20.5	4.003212	0.74932	.	.	ENSG00000109061	ENST00000226207	D	0.83591	-1.74	5.38	5.38	0.77491	Myosin tail (1);	0.000000	0.41938	U	0.000785	D	0.92538	0.7630	H	0.98068	4.14	0.39793	D	0.972466	P	0.38020	0.615	P	0.45474	0.482	D	0.94763	0.7938	10	0.87932	D	0	.	19.4684	0.94952	0.0:0.0:1.0:0.0	.	1885	P12882	MYH1_HUMAN	E	1885	ENSP00000226207:Q1885E	ENSP00000226207:Q1885E	Q	-	1	0	MYH1	10338410	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	3.841000	0.55850	2.662000	0.90505	0.655000	0.94253	CAA		0.428	MYH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252725.1	NM_005963		26	49	0	0	0	1	0	26	49					C	10397685	G	C	10397685	3	2	373	1	0	0	0	0	1	0	0	0	10029	1386	48	5	174	5	MYH1	17	10397685	Missense_Mutation	SNP	G	TCGA-V1-A8MM-01A-11D-A377-08		10397685	70797525	21	18481											
NF1	4763	broad.mit.edu	37	chr17	29686010	29686010	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttggttttaatggcttgtggCggtttgcaggaccgttttca	5	17	13	6	2	1	0	1	0	0	0	1	1	1	1	1	5	1	5	1	5	1	7			TCGA-V1-A8MM-01A-11D-A377-08	TCGA-V1-A8MM-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	508c5ad2-f778-4997-84bb-f8a060fc3286	68397e1f-276f-4831-b395-7aec3cffaf4e	g.chr17:29686010C>T	ENST00000358273.4	+	56	8520	c.8137C>T	c.(8137-8139)Cgg>Tgg	p.R2713W	NF1_ENST00000417592.2_3'UTR|NF1_ENST00000356175.3_Missense_Mutation_p.R2692W|NF1_ENST00000444181.2_Missense_Mutation_p.R506W	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	2713					actin cytoskeleton organization (GO:0030036)|adrenal gland development (GO:0030325)|artery morphogenesis (GO:0048844)|brain development (GO:0007420)|camera-type eye morphogenesis (GO:0048593)|cell communication (GO:0007154)|cerebral cortex development (GO:0021987)|cognition (GO:0050890)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|forebrain astrocyte development (GO:0021897)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|liver development (GO:0001889)|MAPK cascade (GO:0000165)|metanephros development (GO:0001656)|myelination in peripheral nervous system (GO:0022011)|negative regulation of angiogenesis (GO:0016525)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of neurotransmitter secretion (GO:0046929)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of transcription factor import into nucleus (GO:0042992)|neural tube development (GO:0021915)|osteoblast differentiation (GO:0001649)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|pigmentation (GO:0043473)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of bone resorption (GO:0045124)|regulation of cell-matrix adhesion (GO:0001952)|regulation of glial cell differentiation (GO:0045685)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of Ras GTPase activity (GO:0032318)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to hypoxia (GO:0001666)|Schwann cell development (GO:0014044)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|visual learning (GO:0008542)|wound healing (GO:0042060)	axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)|nucleus (GO:0005634)	phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|Ras GTPase activator activity (GO:0005099)	p.0?(8)|p.?(3)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		TGGCTTGTGGCGGTTTGCAGG	0.308			"D, Mis, N, F, S, O"		"neurofibroma, glioma"	"neurofibroma, glioma"			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)																												ENST00000358273.4			yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	"D, Mis, N, F, S, O"	neurofibromatosis type 1 gene			O		"neurofibroma, glioma"	"neurofibroma, glioma"	NF1/ACCN1(2)	11	Whole gene deletion(8)|Unknown(3)	p.0?(8)|p.?(3)	soft_tissue(7)|autonomic_ganglia(2)|lung(1)|central_nervous_system(1)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599						c.(8137-8139)Cgg>Tgg		neurofibromin 1							83	85	84					17																	29686010		2203	4300	6503	SO:0001583	missense	4763	Neurofibromatosis, type 1	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome	actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	g.chr17:29686010C>T		CCDS11264.1, CCDS42292.1, CCDS45645.1	17q11.2	2014-09-17	2008-07-31		ENSG00000196712	ENSG00000196712			7765	protein-coding gene	gene with protein product	"neurofibromatosis", "von Recklinghausen disease", "Watson disease"	613113				1715669	Standard	NM_000267		Approved		uc002hgg.3	P21359	OTTHUMG00000132871	ENST00000358273.4:c.8137C>T	17.37:g.29686010C>T	ENSP00000351015:p.Arg2713Trp	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)				NF1_ENST00000417592.2_3'UTR|NF1_ENST00000356175.3_Missense_Mutation_p.R2692W|NF1_ENST00000444181.2_Missense_Mutation_p.R506W	p.R2713W	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)	56	8520	+		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)	2713					O00662|Q14284|Q14930|Q14931|Q9UMK3	Missense_Mutation	SNP	ENST00000358273.4	37	c.8137C>T	CCDS42292.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.979881	0.74360	.	.	ENSG00000196712	ENST00000358273;ENST00000356175;ENST00000456735;ENST00000444181	T;T;T;T	0.55052	2.83;2.98;2.66;0.54	5.73	-0.747	0.11091	.	0.000000	0.85682	D	0.000000	T	0.68760	0.3036	M	0.68317	2.08	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.993;0.992;0.999	T	0.74562	-0.3624	10	0.87932	D	0	.	17.4514	0.87593	0.8199:0.1801:0.0:0.0	.	506;2692;2713	B4DXH1;P21359-2;P21359	.;.;NF1_HUMAN	W	2713;2692;2358;506	ENSP00000351015:R2713W;ENSP00000348498:R2692W;ENSP00000389907:R2358W;ENSP00000396481:R506W	ENSP00000348498:R2692W	R	+	1	2	NF1	26710136	1.000000	0.71417	0.998000	0.56505	0.994000	0.84299	1.831000	0.39141	0.017000	0.15025	-0.284000	0.09977	CGG		0.308	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256351.2	NM_000267		16	19	0	0	0	1	0	16	19					T	29686010	C	T	29686010	3	4	373	1	0	0	0	0	1	0	0	0	10356	759	27	1	8420	1	NF1	17	29686010	Missense_Mutation	SNP	C	TCGA-V1-A8MM-01A-11D-A377-08	19288325	29686010	51509200	22	18482											
C19orf28	126321	broad.mit.edu	37	chr19	3551171	3551171	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ggctgaagatgaaggggaagGacagcaggacgcagacggtg	13	3	19	6	2	0	4	0	2	0	2	0	7	0	7	0	6	1	3	0	6	3	0			TCGA-V1-A8MM-01A-11D-A377-08	TCGA-V1-A8MM-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	508c5ad2-f778-4997-84bb-f8a060fc3286	68397e1f-276f-4831-b395-7aec3cffaf4e	g.chr19:3551171G>A	ENST00000355415.2	-	2	489	c.320C>T	c.(319-321)tCc>tTc	p.S107F	AC005786.7_ENST00000589360.1_RNA|MFSD12_ENST00000398558.4_Missense_Mutation_p.S107F|MFSD12_ENST00000389395.3_Missense_Mutation_p.S107F|MFSD12_ENST00000591878.1_5'UTR	NM_174983.3	NP_778148.2	Q6NUT3	MFS12_HUMAN	major facilitator superfamily domain containing 12	107					transport (GO:0006810)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)				cervix(1)|endometrium(2)|lung(4)|urinary_tract(2)	9						GAAGGGGAAGGACAGCAGGAC	0.662																																						ENST00000355415.2																			0				cervix(1)|endometrium(2)|lung(4)|urinary_tract(2)	9						c.(319-321)tCc>tTc		major facilitator superfamily domain containing 12							26	32	30					19																	3551171		2099	4219	6318	SO:0001583	missense	126321				transmembrane transport	integral to membrane		g.chr19:3551171G>A	AF218008	CCDS42465.1, CCDS74256.1	19p13.3	2012-03-09	2011-11-24	2011-11-24	ENSG00000161091	ENSG00000161091			28299	protein-coding gene	gene with protein product			"chromosome 19 open reading frame 28"	C19orf28		12477932	Standard	NM_174983		Approved	MGC20700, PP3501	uc002lxw.3	Q6NUT3		ENST00000355415.2:c.320C>T	19.37:g.3551171G>A	ENSP00000347583:p.Ser107Phe					AC005786.7_ENST00000589360.1_RNA|MFSD12_ENST00000591878.1_5'UTR|MFSD12_ENST00000398558.4_Missense_Mutation_p.S107F|MFSD12_ENST00000389395.3_Missense_Mutation_p.S107F	p.S107F	NM_174983.3	NP_778148.2	Q6NUT3	CS028_HUMAN			2	489	-			107					A8MXP7|D6W615|E9PAJ8|Q8N459	Missense_Mutation	SNP	ENST00000355415.2	37	c.320C>T	CCDS42465.1	.	.	.	.	.	.	.	.	.	.	G	28.9	4.960737	0.92791	.	.	ENSG00000161091	ENST00000389395;ENST00000398558;ENST00000355415	D;D;D	0.87103	-2.21;-2.21;-2.21	5.13	5.13	0.70059	Major facilitator superfamily domain, general substrate transporter (1);	0.000000	0.85682	D	0.000000	D	0.94019	0.8084	M	0.87097	2.86	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.996;0.996;0.998	D	0.93233	0.6619	10	0.32370	T	0.25	-53.4179	17.5569	0.87894	0.0:0.0:1.0:0.0	.	107;98;107	Q6NUT3;Q6NUT3-2;A8MXP7	CS028_HUMAN;.;.	F	107	ENSP00000374046:S107F;ENSP00000381566:S107F;ENSP00000347583:S107F	ENSP00000347583:S107F	S	-	2	0	C19orf28	3502171	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.121000	0.77160	2.393000	0.81446	0.462000	0.41574	TCC		0.662	MFSD12-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000452949.2	NM_174983		6	8	0	0	0	1	0	6	8					A	3551171	G	A	3551171	3	1	373	1	0	0	0	0	1	0	0	0	1917	1174	41	3	1365	3	C19orf28	19	3551171	Missense_Mutation	SNP	G	TCGA-V1-A8MM-01A-11D-A377-08		3551171	55577812	23	18483											
CCDC130	81576	broad.mit.edu	37	chr19	13873213	13873213	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcccgagacggaagatgaccGcaagctggcggctctgctga	9	5	15	12	4	1	4	0	2	1	2	1	6	1	5	2	3	2	4	2	3	2	0			TCGA-V1-A8MM-01A-11D-A377-08	TCGA-V1-A8MM-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	508c5ad2-f778-4997-84bb-f8a060fc3286	68397e1f-276f-4831-b395-7aec3cffaf4e	g.chr19:13873213G>A	ENST00000586600.1	+	10	1177	c.674G>A	c.(673-675)cGc>cAc	p.R225H	MRI1_ENST00000040663.6_5'Flank|CCDC130_ENST00000587019.1_3'UTR|MRI1_ENST00000319545.8_5'Flank|CCDC130_ENST00000221554.8_Missense_Mutation_p.R225H			P13994	CC130_HUMAN	coiled-coil domain containing 130	225					response to virus (GO:0009615)					endometrium(2)|kidney(1)|large_intestine(3)|ovary(1)|skin(2)|urinary_tract(1)	10			OV - Ovarian serous cystadenocarcinoma(19;6.02e-23)|Epithelial(5;2.58e-18)			GAAGATGACCGCAAGCTGGCG	0.622																																						ENST00000586600.1																			0				endometrium(2)|kidney(1)|large_intestine(3)|ovary(1)|skin(2)|urinary_tract(1)	10						c.(673-675)cGc>cAc		coiled-coil domain containing 130							56	59	58					19																	13873213		2203	4300	6503	SO:0001583	missense	81576				response to virus		protein binding	g.chr19:13873213G>A	AF250306	CCDS12296.1	19p13.13	2008-02-05				ENSG00000104957			28118	protein-coding gene	gene with protein product						3203696	Standard	NM_030818		Approved	MGC10471	uc002mxc.1	P13994		ENST00000586600.1:c.674G>A	19.37:g.13873213G>A	ENSP00000465776:p.Arg225His					CCDC130_ENST00000587019.1_3'UTR|CCDC130_ENST00000221554.8_Missense_Mutation_p.R225H	p.R225H			P13994	CC130_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;6.02e-23)|Epithelial(5;2.58e-18)		10	1177	+			225					Q9BQ72	Missense_Mutation	SNP	ENST00000586600.1	37	c.674G>A	CCDS12296.1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.343977	0.82022	.	.	ENSG00000104957	ENST00000221554	T	0.34275	1.37	4.73	4.73	0.59995	.	0.126777	0.52532	D	0.000074	T	0.57066	0.2028	M	0.85462	2.755	0.80722	D	1	D;D	0.71674	0.998;0.995	P;P	0.61722	0.893;0.893	T	0.62680	-0.6803	10	0.62326	D	0.03	-29.9039	8.9977	0.36063	0.1015:0.0:0.8985:0.0	.	225;225	B3KUZ1;P13994	.;CC130_HUMAN	H	225	ENSP00000221554:R225H	ENSP00000221554:R225H	R	+	2	0	CCDC130	13734213	1.000000	0.71417	1.000000	0.80357	0.782000	0.44232	3.871000	0.56077	2.208000	0.71279	0.555000	0.69702	CGC		0.622	CCDC130-001	KNOWN	alternative_5_UTR|upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453216.2	NM_030818		3	38	0	0	0	1	0	3	38					A	13873213	G	A	13873213	3	1	373	1	0	0	0	0	1	0	0	0	2766	1087	38	1	704	1	CCDC130	19	13873213	Missense_Mutation	SNP	G	TCGA-V1-A8MM-01A-11D-A377-08	10322042	13873213	45255770	24	18484											
DPF1	8193	broad.mit.edu	37	chr19	38702939	38702939	+	Frame_Shift_Del	DEL	G	G	-																															ccttccgggggctccgccatGgggggactcaggcagtacat																										TCGA-V1-A8MM-01A-11D-A377-08	TCGA-V1-A8MM-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	508c5ad2-f778-4997-84bb-f8a060fc3286	68397e1f-276f-4831-b395-7aec3cffaf4e	g.chr19:38702939delG	ENST00000420980.2	-	10	1079	c.1053delC	c.(1051-1053)cccfs	p.P351fs	DPF1_ENST00000414789.1_Frame_Shift_Del_p.P303fs|DPF1_ENST00000456296.1_Frame_Shift_Del_p.P359fs|DPF1_ENST00000416611.1_Frame_Shift_Del_p.P369fs|DPF1_ENST00000355526.4_Frame_Shift_Del_p.P385fs|DPF1_ENST00000412732.1_Frame_Shift_Del_p.P303fs	NM_004647.2	NP_004638.2	Q92782	DPF1_HUMAN	D4, zinc and double PHD fingers family 1	351					apoptotic process (GO:0006915)|nervous system development (GO:0007399)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nBAF complex (GO:0071565)	zinc ion binding (GO:0008270)			large_intestine(1)|lung(4)|ovary(1)|skin(1)	7	all_cancers(60;1.24e-06)		Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			GCTCCGCCATGGGGGGACTCA	0.657																																						ENST00000416611.1																			0				large_intestine(1)|lung(4)|ovary(1)|skin(1)	7						c.(1105-1107)ccfs		D4, zinc and double PHD fingers family 1							11	11	11					19																	38702939		2164	4191	6355	SO:0001589	frameshift_variant	0				induction of apoptosis|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nBAF complex	zinc ion binding	g.chr19:38702939delG	U43843	CCDS33008.2, CCDS46064.1, CCDS46065.1	19q13.12	2013-01-28			ENSG00000011332	ENSG00000011332		"Zinc fingers, PHD-type"	20225	protein-coding gene	gene with protein product		601670				8812431	Standard	XM_005259288		Approved	neuro-d4, NEUD4, BAF45b	uc002ohm.3	Q92782	OTTHUMG00000157164	ENST00000420980.2:c.1053delC	19.37:g.38702939delG	ENSP00000397354:p.Pro351fs					DPF1_ENST00000412732.1_Frame_Shift_Del_p.P303fs|DPF1_ENST00000456296.1_Frame_Shift_Del_p.P359fs|DPF1_ENST00000355526.4_Frame_Shift_Del_p.P385fs|DPF1_ENST00000420980.2_Frame_Shift_Del_p.P351fs|DPF1_ENST00000414789.1_Frame_Shift_Del_p.P303fs	p.P369fs			Q92782	DPF1_HUMAN	Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)		11	1230	-	all_cancers(60;1.24e-06)		351					B3KSY8|Q08AJ0	Frame_Shift_Del	DEL	ENST00000420980.2	37	c.1107delC	CCDS33008.2																																																																																				0.657	DPF1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000347721.1			2	4						2	4	---	---	---	---	-	38702939	G	-	38702939	7	5	373	1	0	1	0	1	0	0	0	0	4716	1335	47	0	97	0	DPF1	19	38702939	Frame_Shift_Del	DEL	G	TCGA-V1-A8MM-01A-11D-A377-08	24829726	38702939	20426044	25	18485											
REM1	28954	broad.mit.edu	37	chr20	30064255	30064255	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccccctaccaaagatgacaCtcaacaccgagcaggaagca	15	3	7	16	1	1	2	1	1	0	1	1	4	1	3	5	1	4	2	5	1	4	1			TCGA-V1-A8MM-01A-11D-A377-08	TCGA-V1-A8MM-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	508c5ad2-f778-4997-84bb-f8a060fc3286	68397e1f-276f-4831-b395-7aec3cffaf4e	g.chr20:30064255C>T	ENST00000201979.2	+	2	300	c.7C>T	c.(7-9)Ctc>Ttc	p.L3F	DEFB124_ENST00000481595.1_Intron	NM_014012.4	NP_054731.2	O75628	REM1_HUMAN	RAS (RAD and GEM)-like GTP-binding 1	3					GTP catabolic process (GO:0006184)|small GTPase mediated signal transduction (GO:0007264)	membrane (GO:0016020)	GTP binding (GO:0005525)			kidney(3)|large_intestine(3)|lung(14)|pancreas(2)|upper_aerodigestive_tract(1)	23	all_cancers(5;0.000119)|Lung NSC(7;1.32e-05)|all_lung(7;2.14e-05)|all_hematologic(12;0.158)|Ovarian(7;0.198)		Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)			AAAGATGACACTCAACACCGA	0.577																																						ENST00000201979.2																			0				kidney(3)|large_intestine(3)|lung(14)|pancreas(2)|upper_aerodigestive_tract(1)	23						c.(7-9)Ctc>Ttc		RAS (RAD and GEM)-like GTP-binding 1							103	118	113					20																	30064255		2203	4300	6503	SO:0001583	missense	28954				small GTPase mediated signal transduction	membrane	calmodulin binding|GTP binding|GTPase activity	g.chr20:30064255C>T	AF152863	CCDS13181.1	20q11.21	2014-05-09	2004-04-14	2004-04-16	ENSG00000088320	ENSG00000088320			15922	protein-coding gene	gene with protein product	"GTPase GES"	610388	"RAS (RAD and GEM)-like GTP-binding"	REM		10831614, 14623965	Standard	NM_014012		Approved	GES	uc002wwa.3	O75628	OTTHUMG00000032168	ENST00000201979.2:c.7C>T	20.37:g.30064255C>T	ENSP00000201979:p.Leu3Phe					DEFB124_ENST00000481595.1_Intron	p.L3F	NM_014012.4	NP_054731.2	O75628	REM1_HUMAN	Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)		2	300	+	all_cancers(5;0.000119)|Lung NSC(7;1.32e-05)|all_lung(7;2.14e-05)|all_hematologic(12;0.158)|Ovarian(7;0.198)		3					E1P5L1|Q5TZR7|Q5TZR8|Q9NP57	Missense_Mutation	SNP	ENST00000201979.2	37	c.7C>T	CCDS13181.1	.	.	.	.	.	.	.	.	.	.	C	17.28	3.350891	0.61183	.	.	ENSG00000088320	ENST00000201979	T	0.72725	-0.68	4.44	4.44	0.53790	.	0.000000	0.56097	D	0.000036	T	0.74176	0.3682	L	0.27053	0.805	0.46376	D	0.99901	D	0.89917	1.0	D	0.85130	0.997	T	0.77253	-0.2656	10	0.87932	D	0	.	12.4533	0.55688	0.0:1.0:0.0:0.0	.	3	O75628	REM1_HUMAN	F	3	ENSP00000201979:L3F	ENSP00000201979:L3F	L	+	1	0	REM1	29527916	0.999000	0.42202	1.000000	0.80357	0.424000	0.31475	2.751000	0.47508	2.278000	0.76064	0.655000	0.94253	CTC		0.577	REM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078508.2	NM_014012		3	40	0	0	0	1	0	3	40					T	30064255	C	T	30064255	3	4	373	1	0	0	0	0	1	0	0	0	13222	565	20	3	9	3	REM1	20	30064255	Missense_Mutation	SNP	C	TCGA-V1-A8MM-01A-11D-A377-08		30064255	32961265	26	18486											
MAGEA10	4109	broad.mit.edu	37	chrX	151303817	151303817	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaagcaacgaccgagggggaGgagcaggctatctgagcact	12	4	16	9	2	1	1	0	1	1	0	1	6	1	3	1	4	4	4	1	4	3	1			TCGA-V1-A8MM-01A-11D-A377-08	TCGA-V1-A8MM-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	508c5ad2-f778-4997-84bb-f8a060fc3286	68397e1f-276f-4831-b395-7aec3cffaf4e	g.chrX:151303817G>A	ENST00000370323.4	-	4	592	c.276C>T	c.(274-276)tcC>tcT	p.S92S	MAGEA10_ENST00000244096.3_Silent_p.S92S|RP11-1007I13.4_ENST00000509345.2_RNA	NM_001251828.1|NM_021048.4	NP_001238757.1|NP_066386	P43363	MAGAA_HUMAN	melanoma antigen family A, 10	92						nucleus (GO:0005634)				endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					CCGAGGGGGAGGAGCAGGCTA	0.552																																						ENST00000370323.4																			0				endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						c.(274-276)tcC>tcT		melanoma antigen family A, 10							172	174	174					X																	151303817		2203	4300	6503	SO:0001819	synonymous_variant	4109							g.chrX:151303817G>A		CCDS14705.1	Xq28	2009-03-13			ENSG00000124260	ENSG00000124260			6797	protein-coding gene	gene with protein product	"MAGE-10 antigen", "melanoma-associated antigen 10", "cancer/testis antigen family 1, member 10"	300343		MAGE10		8575766	Standard	NM_001011543		Approved	MGC10599, CT1.10	uc004ffl.3	P43363	OTTHUMG00000024180	ENST00000370323.4:c.276C>T	X.37:g.151303817G>A						MAGEA10_ENST00000244096.3_Silent_p.S92S|RP11-1007I13.4_ENST00000509345.2_RNA	p.S92S	NM_001251828.1|NM_021048.4	NP_001238757.1|NP_066386.2	P43363	MAGAA_HUMAN			4	592	-	Acute lymphoblastic leukemia(192;6.56e-05)		92						Silent	SNP	ENST00000370323.4	37	c.276C>T	CCDS14705.1																																																																																				0.552	MAGEA10-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060916.3	NM_021048		9	79	0	0	0	1	0	9	79					A	151303817	G	A	151303817	2	1	373	1	0	0	0	0	0	0	0	1	9164	987	35	3		3	MAGEA10	23	151303817	Silent	SNP	G	TCGA-V1-A8MM-01A-11D-A377-08		151303817	3966743	27	18487											
BNIPL	149428	broad.mit.edu	37	chr1	151011474	151011474	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccttcagactcggagcagctGgacagtggacatgaatttga	11	9	12	9	1	1	3	1	2	0	1	2	6	1	6	1	3	2	2	1	3	1	2			TCGA-V1-A8MU-01A-11D-A377-08	TCGA-V1-A8MU-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	942a31bd-5417-43df-bc54-b74f9d8745ce	3f2fdbd9-19b0-41e2-87f3-ebc0f5fa5215	g.chr1:151011474G>A	ENST00000368931.3	+	4	561	c.405G>A	c.(403-405)ctG>ctA	p.L135L	BNIPL_ENST00000295294.7_Silent_p.L53L	NM_138278.3	NP_612122.2	Q7Z465	BNIPL_HUMAN	BCL2/adenovirus E1B 19kD interacting protein like	135					apoptotic process (GO:0006915)|negative regulation of cell proliferation (GO:0008285)|regulation of growth rate (GO:0040009)	cytosol (GO:0005829)|nucleus (GO:0005634)	identical protein binding (GO:0042802)			autonomic_ganglia(1)|endometrium(3)|large_intestine(1)|lung(4)|skin(1)	10	Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			CGGAGCAGCTGGACAGTGGAC	0.502																																						ENST00000295294.7																			0				autonomic_ganglia(1)|endometrium(3)|large_intestine(1)|lung(4)|skin(1)	10						c.(157-159)ctG>ctA		BCL2/adenovirus E1B 19kD interacting protein like							81	71	75					1																	151011474		2203	4300	6503	SO:0001819	synonymous_variant	149428				apoptosis|induction of apoptosis|negative regulation of cell proliferation|regulation of growth rate	cytosol|nucleus	identical protein binding	g.chr1:151011474G>A	AF193056	CCDS978.2, CCDS53362.1	1q21.2	2008-02-05			ENSG00000163141	ENSG00000163141			16976	protein-coding gene	gene with protein product		611275				12681488, 11741952	Standard	NM_138278		Approved	BNIPl-1, BNIPL-2, PP753	uc001ewl.2	Q7Z465	OTTHUMG00000035157	ENST00000368931.3:c.405G>A	1.37:g.151011474G>A						BNIPL_ENST00000368931.3_Silent_p.L135L	p.L53L	NM_001159642.1	NP_001153114.1	Q7Z465	BNIPL_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)		4	768	+	Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		135					Q6DK43|Q8TCY7|Q8WYG2	Silent	SNP	ENST00000368931.3	37	c.159G>A	CCDS978.2																																																																																				0.502	BNIPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085092.1	NM_138279		3	17	0	0	0	1	0	3	17					A	151011474	G	A	151011474	2	1	374	1	0	0	0	0	0	0	0	1	1480	1335	47	3		3	BNIPL	1	151011474	Silent	SNP	G	TCGA-V1-A8MU-01A-11D-A377-08		151011474	98239147	1	18488											
NR1I3	9970	broad.mit.edu	37	chr1	161203129	161203129	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcttctgccgacagtatcaCtgtgccaggcaagagatcat	10	9	11	11	1	3	1	2	0	1	1	3	3	3	1	2	2	2	3	2	2	2	2			TCGA-V1-A8MU-01A-11D-A377-08	TCGA-V1-A8MU-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	942a31bd-5417-43df-bc54-b74f9d8745ce	3f2fdbd9-19b0-41e2-87f3-ebc0f5fa5215	g.chr1:161203129C>A	ENST00000367982.4	-	4	394		c.e4-1		NR1I3_ENST00000511944.1_Intron|NR1I3_ENST00000442691.2_Splice_Site|NR1I3_ENST00000515621.1_Splice_Site|NR1I3_ENST00000367981.3_Splice_Site|NR1I3_ENST00000367983.4_Splice_Site|NR1I3_ENST00000505005.1_Splice_Site|NR1I3_ENST00000512372.1_Splice_Site|NR1I3_ENST00000437437.2_Splice_Site|NR1I3_ENST00000511748.1_Intron|NR1I3_ENST00000508740.1_Splice_Site|NR1I3_ENST00000412844.2_Splice_Site|NR1I3_ENST00000367979.2_Splice_Site|NR1I3_ENST00000515452.1_Splice_Site|NR1I3_ENST00000367985.3_Splice_Site|NR1I3_ENST00000502985.1_Intron|NR1I3_ENST00000511676.1_Splice_Site|NR1I3_ENST00000428574.2_Splice_Site|NR1I3_ENST00000367980.2_Splice_Site|NR1I3_ENST00000508387.1_Intron|NR1I3_ENST00000506209.1_Splice_Site|NR1I3_ENST00000504010.1_Splice_Site|NR1I3_ENST00000367984.4_Splice_Site|NR1I3_ENST00000479324.1_5'Flank			Q14994	NR1I3_HUMAN	nuclear receptor subfamily 1, group I, member 3						androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	androgen receptor activity (GO:0004882)|DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|thyroid hormone receptor activity (GO:0004887)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1)	15	all_cancers(52;1.86e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00376)			GACAGTATCACTGTGCCAGGC	0.577																																						ENST00000367983.4																			0				endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1)	15						c.e4-1		nuclear receptor subfamily 1, group I, member 3							75	72	73					1																	161203129		2203	4300	6503	SO:0001630	splice_region_variant	0				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	androgen receptor activity|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|thyroid hormone receptor activity|transcription coactivator activity|zinc ion binding	g.chr1:161203129C>A	Z30425	CCDS1228.1, CCDS41427.1, CCDS41428.1, CCDS41429.1, CCDS41430.1, CCDS44260.1, CCDS44261.1, CCDS44262.1, CCDS53405.1, CCDS53406.1, CCDS53407.1, CCDS53408.1, CCDS53409.1, CCDS53410.1, CCDS53411.1	1q23.3	2013-01-16			ENSG00000143257	ENSG00000143257		"Nuclear hormone receptors"	7969	protein-coding gene	gene with protein product	"constitutive androstane receptor"	603881				8114692	Standard	NM_001077480		Approved	MB67, CAR1, CAR	uc001fzp.3	Q14994	OTTHUMG00000034347	ENST00000367982.4:c.239-1G>T	1.37:g.161203129C>A						NR1I3_ENST00000505005.1_Splice_Site|NR1I3_ENST00000367984.4_Splice_Site|NR1I3_ENST00000504010.1_Splice_Site|NR1I3_ENST00000437437.2_Splice_Site|NR1I3_ENST00000515621.1_Splice_Site|NR1I3_ENST00000515452.1_Splice_Site|NR1I3_ENST00000367981.3_Splice_Site|NR1I3_ENST00000512372.1_Splice_Site|NR1I3_ENST00000511944.1_Intron|NR1I3_ENST00000511676.1_Splice_Site|NR1I3_ENST00000428574.2_Splice_Site|NR1I3_ENST00000511748.1_Intron|NR1I3_ENST00000508740.1_Splice_Site|NR1I3_ENST00000508387.1_Intron|NR1I3_ENST00000506209.1_Splice_Site|NR1I3_ENST00000412844.2_Splice_Site|NR1I3_ENST00000502985.1_Intron|NR1I3_ENST00000367982.4_Splice_Site|NR1I3_ENST00000367979.2_Splice_Site|NR1I3_ENST00000367985.3_Splice_Site|NR1I3_ENST00000367980.2_Splice_Site|NR1I3_ENST00000442691.2_Splice_Site				Q14994	NR1I3_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00376)		4	533	-	all_cancers(52;1.86e-18)|all_hematologic(112;0.093)							E9PB75|E9PC13|E9PDU3|E9PGH6|E9PH10|E9PHC8|E9PHN4|F1D8Q0|F1D8Q1|Q0VAC9|Q4U0F0|Q5VTW5|Q5VTW6|Q6GZ68|Q6GZ76|Q6GZ77|Q6GZ78|Q6GZ79|Q6GZ82|Q6GZ83|Q6GZ84|Q6GZ85|Q6GZ87|Q6GZ89	Splice_Site	SNP	ENST00000367982.4	37		CCDS41430.1	.	.	.	.	.	.	.	.	.	.	C	17.65	3.441459	0.63067	.	.	ENSG00000143257	ENST00000512372;ENST00000367983;ENST00000367980;ENST00000437437;ENST00000442691;ENST00000412844;ENST00000428574;ENST00000505005;ENST00000508740;ENST00000367982;ENST00000504010;ENST00000511676;ENST00000367981;ENST00000515621;ENST00000367984;ENST00000367985;ENST00000367979;ENST00000506209;ENST00000515452	.	.	.	6.17	5.27	0.74061	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.6459	0.62281	0.0:0.9257:0.0:0.0743	.	.	.	.	.	-1	.	.	.	-	.	.	NR1I3	159469753	1.000000	0.71417	1.000000	0.80357	0.867000	0.49689	3.085000	0.50151	1.631000	0.50456	0.655000	0.94253	.		0.577	NR1I3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000083048.2		Intron	20	51	1	0	0.000132079	1	0.00013903	20	51					A	161203129	C	A	161203129	5	1	374	1	0	0	0	0	0	0	1	0	10621	579	20	5	954	5	NR1I3	1	161203129	Splice_Site	SNP	C	TCGA-V1-A8MU-01A-11D-A377-08	10191655	161203129	88047492	2	18489											
NFASC	23114	broad.mit.edu	37	chr1	204937483	204937483	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgctggaatgcatcgcctcCggggtgtatgtgcggtttgc	4	12	15	10	3	0	0	0	0	0	0	2	1	1	1	2	4	4	4	2	4	2	2	rs140997318	byFrequency	TCGA-V1-A8MU-01A-11D-A377-08	TCGA-V1-A8MU-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	942a31bd-5417-43df-bc54-b74f9d8745ce	3f2fdbd9-19b0-41e2-87f3-ebc0f5fa5215	g.chr1:204937483C>T	ENST00000401399.1	+	8	1012	c.813C>T	c.(811-813)tcC>tcT	p.S271S	NFASC_ENST00000367169.4_Silent_p.S271S|NFASC_ENST00000403080.1_Silent_p.S271S|NFASC_ENST00000339876.6_Silent_p.S271S|NFASC_ENST00000367172.4_Silent_p.S271S|NFASC_ENST00000539706.1_Silent_p.S282S|NFASC_ENST00000360049.4_Silent_p.S282S|NFASC_ENST00000367171.4_Silent_p.S271S|NFASC_ENST00000338515.6_Silent_p.S271S|NFASC_ENST00000404076.1_Silent_p.S265S|NFASC_ENST00000404907.1_Silent_p.S282S|NFASC_ENST00000338586.6_Silent_p.S271S|NFASC_ENST00000367170.4_Silent_p.S271S|NFASC_ENST00000513543.1_Silent_p.S282S			O94856	NFASC_HUMAN	neurofascin	271	Ig-like C2-type 3.				axon guidance (GO:0007411)|clustering of voltage-gated sodium channels (GO:0045162)|heterotypic cell-cell adhesion (GO:0034113)|myelination (GO:0042552)|paranodal junction assembly (GO:0030913)|peripheral nervous system development (GO:0007422)|protein localization to juxtaparanode region of axon (GO:0071205)|protein localization to paranode region of axon (GO:0002175)|synapse organization (GO:0050808)|transmission of nerve impulse (GO:0019226)	axon initial segment (GO:0043194)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|node of Ranvier (GO:0033268)|paranodal junction (GO:0033010)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)		p.S282S(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	81	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			GCATCGCCTCCGGGGTGTATG	0.557																																						ENST00000367172.4																			1	Substitution - coding silent(1)	p.S282S(1)	large_intestine(1)	NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	81						c.(811-813)tcC>tcT		neurofascin		C	,,,,,	0,4406		0,0,2203	107	85	93		813,813,846,846,795,846	-9.9	0.9	1	dbSNP_134	93	3,8597	3.0+/-9.4	0,3,4297	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	NFASC	NM_001005388.2,NM_001005389.1,NM_001160331.1,NM_001160332.1,NM_001160333.1,NM_015090.3	,,,,,	0,3,6500	TT,TC,CC		0.0349,0.0,0.0231	,,,,,	271/1241,271/620,282/1190,282/1175,265/614,282/1170	204937483	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	23114				axon guidance|cell adhesion|myelination|peripheral nervous system development	integral to membrane|node of Ranvier|plasma membrane	protein binding	g.chr1:204937483C>T	AK027553	CCDS30982.1, CCDS53460.1, CCDS53461.1, CCDS53462.1	1q32.1	2013-02-11	2010-06-24		ENSG00000163531	ENSG00000163531		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	29866	protein-coding gene	gene with protein product		609145	"neurofascin homolog (chicken)"			1377696, 8672144	Standard	NM_015090		Approved	NRCAML, KIAA0756, FLJ46866, NF	uc001hbj.3	O94856	OTTHUMG00000151697	ENST00000401399.1:c.813C>T	1.37:g.204937483C>T						NFASC_ENST00000338586.6_Silent_p.S271S|NFASC_ENST00000513543.1_Silent_p.S282S|NFASC_ENST00000338515.6_Silent_p.S271S|NFASC_ENST00000360049.4_Silent_p.S282S|NFASC_ENST00000339876.6_Silent_p.S271S|NFASC_ENST00000367170.4_Silent_p.S271S|NFASC_ENST00000367169.4_Silent_p.S271S|NFASC_ENST00000539706.1_Silent_p.S282S|NFASC_ENST00000401399.1_Silent_p.S271S|NFASC_ENST00000404076.1_Silent_p.S265S|NFASC_ENST00000403080.1_Silent_p.S271S|NFASC_ENST00000404907.1_Silent_p.S282S|NFASC_ENST00000367171.4_Silent_p.S271S	p.S271S			O94856	NFASC_HUMAN	KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)		9	1141	+	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		271			Ig-like C2-type 3.		B2RNN8|B3KQZ1|B5MDP6|B5MDR6|B7ZMD8|Q149P5|Q5T2F0|Q5T2F1|Q5T2F2|Q5T2F3|Q5T2F4|Q5T2F5|Q5T2F6|Q5T2F7|Q5T2F9|Q5T2G0|Q5W9F8|Q68DH3|Q6ZQV6|Q7Z3K1|Q96HT1|Q96K50	Silent	SNP	ENST00000401399.1	37	c.813C>T	CCDS53460.1	.	.	.	.	.	.	.	.	.	.	C	10.96	1.497972	0.26861	0.0	3.49E-4	ENSG00000163531	ENST00000367173	.	.	.	4.93	-9.86	0.00473	.	.	.	.	.	T	0.44393	0.1291	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.53222	-0.8469	4	.	.	.	.	7.2635	0.26217	0.2824:0.124:0.0:0.5936	.	.	.	.	L	241	.	.	P	+	2	0	NFASC	203204106	0.000000	0.05858	0.885000	0.34714	0.973000	0.67179	-3.459000	0.00464	-1.434000	0.01975	-0.141000	0.14075	CCG		0.557	NFASC-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000131237.1	NM_001005388		9	29	0	0	0	1	0	9	29					T	204937483	C	T	204937483	2	4	374	1	0	0	0	0	0	0	0	1	10359	639	23	2		2	NFASC	1	204937483	Silent	SNP	C	TCGA-V1-A8MU-01A-11D-A377-08	43734354	204937483	44313138	3	18490											
SNAP47	116841	broad.mit.edu	37	chr1	227935845	227935845	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagaaacgcctggaggacacGgcgagggtcctgcaccacca	11	3	13	14	3	0	1	0	0	0	1	1	4	1	3	4	4	2	1	4	4	1	0	rs139457264		TCGA-V1-A8MU-01A-11D-A377-08	TCGA-V1-A8MU-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	942a31bd-5417-43df-bc54-b74f9d8745ce	3f2fdbd9-19b0-41e2-87f3-ebc0f5fa5215	g.chr1:227935845G>A	ENST00000366759.4	+	2	957	c.543G>A	c.(541-543)acG>acA	p.T181T	SNAP47_ENST00000366760.1_Intron|SNAP47-AS1_ENST00000413347.2_RNA|SNAP47_ENST00000315781.5_Silent_p.T181T	NM_053052.3	NP_444280.2	Q5SQN1	SNP47_HUMAN	synaptosomal-associated protein, 47kDa	181	t-SNARE coiled-coil homology 1. {ECO:0000255|PROSITE-ProRule:PRU00202}.				long-term synaptic potentiation (GO:0060291)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|membrane (GO:0016020)|neuronal cell body (GO:0043025)				endometrium(1)|large_intestine(5)|liver(2)|lung(6)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	17						TGGAGGACACGGCGAGGGTCC	0.652																																						ENST00000366759.4																			0				endometrium(1)|large_intestine(5)|liver(2)|lung(6)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	17						c.(541-543)acG>acA		synaptosomal-associated protein, 47kDa							31	33	32					1																	227935845		2203	4300	6503	SO:0001819	synonymous_variant	116841					endomembrane system|membrane|perinuclear region of cytoplasm		g.chr1:227935845G>A	AY090635	CCDS1562.1	1q42.13	2013-10-11	2008-10-27	2008-10-27	ENSG00000143740	ENSG00000143740			30669	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 142"	C1orf142		16621800	Standard	NM_053052		Approved	SVAP1, SNAP-47	uc001hrf.2	Q5SQN1	OTTHUMG00000037697	ENST00000366759.4:c.543G>A	1.37:g.227935845G>A						SNAP47_ENST00000315781.5_Silent_p.T181T|SNAP47_ENST00000366760.1_Intron	p.T181T	NM_053052.3	NP_444280.2	Q5SQN1	SNP47_HUMAN			2	957	+			181			t-SNARE coiled-coil homology 1.		B6EDE0|Q5HYB5|Q5TBZ3|Q8N558|Q8TB31|Q8TCW8|Q8WV46|Q96CQ3|Q96FE1|Q96I66|Q96NU3|Q9BT10|Q9BVB2	Silent	SNP	ENST00000366759.4	37	c.543G>A	CCDS1562.1	.	.	.	.	.	.	.	.	.	.	G	0.033	-1.322669	0.01320	.	.	ENSG00000143740	ENST00000426344	.	.	.	4.12	-8.25	0.01025	.	.	.	.	.	T	0.46464	0.1394	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.55891	-0.8069	4	.	.	.	-13.7884	6.848	0.23998	0.4204:0.0:0.3929:0.1867	.	.	.	.	S	173	.	.	G	+	1	0	SNAP47	226002468	0.023000	0.18921	0.000000	0.03702	0.017000	0.09413	-0.902000	0.04088	-3.466000	0.00158	-2.409000	0.00222	GGC		0.652	SNAP47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091961.1	NM_053052		6	24	0	0	0	1	0	6	24					A	227935845	G	A	227935845	2	1	374	1	0	0	0	0	0	0	0	1	14832	1103	39	2		2	SNAP47	1	227935845	Silent	SNP	G	TCGA-V1-A8MU-01A-11D-A377-08	22998362	227935845	21314776	4	18491											
TTC7A	57217	broad.mit.edu	37	chr2	47278891	47278891	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctcttgctctgcaggctcccGgcgggcttcgtccatcgccg	2	10	12	17	5	2	0	0	0	2	0	6	0	4	0	3	3	2	4	3	3	0	2	rs532590528		TCGA-V1-A8MU-01A-11D-A377-08	TCGA-V1-A8MU-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	942a31bd-5417-43df-bc54-b74f9d8745ce	3f2fdbd9-19b0-41e2-87f3-ebc0f5fa5215	g.chr2:47278891G>A	ENST00000319190.5	+	18	2392	c.2024G>A	c.(2023-2025)cGg>cAg	p.R675Q	TTC7A_ENST00000263737.6_Missense_Mutation_p.R321Q|TTC7A_ENST00000394850.2_Missense_Mutation_p.R699Q|TTC7A_ENST00000409245.1_Missense_Mutation_p.R641Q	NM_020458.2	NP_065191.2	Q9ULT0	TTC7A_HUMAN	tetratricopeptide repeat domain 7A	675					cellular iron ion homeostasis (GO:0006879)|hemopoiesis (GO:0030097)					breast(4)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	25		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	Lung(47;0.0792)|LUSC - Lung squamous cell carcinoma(58;0.114)			GCAGGCTCCCGGCGGGCTTCG	0.662													G|||	1	0.000199681	8e-04	0	5008	,	,		18178	0		0	False		,,,				2504	0					ENST00000319190.5																			0				breast(4)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	25						c.(2023-2025)cGg>cAg		tetratricopeptide repeat domain 7A							48	51	50					2																	47278891		2172	4238	6410	SO:0001583	missense	57217						binding	g.chr2:47278891G>A	AB032966	CCDS33193.1, CCDS74510.1, CCDS74511.1	2p16.3	2013-01-10	2004-06-02	2004-06-02	ENSG00000068724	ENSG00000068724		"Tetratricopeptide (TTC) repeat domain containing"	19750	protein-coding gene	gene with protein product		609332	"tetratricopeptide repeat domain 7"	TTC7		10574461	Standard	XM_005264439		Approved	KIAA1140	uc002rvo.3	Q9ULT0	OTTHUMG00000153121	ENST00000319190.5:c.2024G>A	2.37:g.47278891G>A	ENSP00000316699:p.Arg675Gln					TTC7A_ENST00000409245.1_Missense_Mutation_p.R641Q|TTC7A_ENST00000394850.2_Missense_Mutation_p.R699Q|TTC7A_ENST00000263737.6_Missense_Mutation_p.R321Q	p.R675Q	NM_020458.2	NP_065191.2	Q9ULT0	TTC7A_HUMAN	Lung(47;0.0792)|LUSC - Lung squamous cell carcinoma(58;0.114)		18	2392	+		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	675					Q6PIX4|Q8ND67|Q9BUS3	Missense_Mutation	SNP	ENST00000319190.5	37	c.2024G>A	CCDS33193.1	.	.	.	.	.	.	.	.	.	.	G	11.19	1.564514	0.27915	.	.	ENSG00000068724	ENST00000409245;ENST00000319190;ENST00000394850;ENST00000263737;ENST00000434093	T;T;T;T	0.30448	1.97;1.98;1.58;1.53	5.18	-1.32	0.09201	.	0.714105	0.14039	N	0.345581	T	0.08358	0.0208	N	0.00926	-1.1	0.09310	N	1	B;B;B;B	0.10296	0.003;0.0;0.0;0.0	B;B;B;B	0.04013	0.001;0.001;0.001;0.0	T	0.32188	-0.9916	10	0.28530	T	0.3	-10.3818	6.2123	0.20636	0.6278:0.0:0.2237:0.1485	.	699;641;675;641	Q2T9J9;B3KPK7;Q9ULT0;G5E9G4	.;.;TTC7A_HUMAN;.	Q	641;675;699;321;502	ENSP00000386307:R641Q;ENSP00000316699:R675Q;ENSP00000378320:R699Q;ENSP00000263737:R321Q	ENSP00000263737:R321Q	R	+	2	0	TTC7A	47132395	0.000000	0.05858	0.989000	0.46669	0.735000	0.41995	0.439000	0.21575	-0.145000	0.11294	-0.136000	0.14681	CGG		0.662	TTC7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329667.2	XM_372927		10	52	0	0	0	1	0	10	52					A	47278891	G	A	47278891	3	1	374	1	0	0	0	0	1	0	0	0	16709	1116	39	2	2094	2	TTC7A	2	47278891	Missense_Mutation	SNP	G	TCGA-V1-A8MU-01A-11D-A377-08		47278891	195920482	5	18492											
ARL13B	200894	broad.mit.edu	37	chr3	93769715	93769715	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gacttccaaaacttgagcctCttggtgaaacacatcataat	14	11	6	10	0	2	2	1	2	1	0	3	3	3	2	2	1	3	0	2	1	4	4			TCGA-V1-A8MU-01A-11D-A377-08	TCGA-V1-A8MU-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	942a31bd-5417-43df-bc54-b74f9d8745ce	3f2fdbd9-19b0-41e2-87f3-ebc0f5fa5215	g.chr3:93769715C>G	ENST00000394222.3	+	9	1464	c.1189C>G	c.(1189-1191)Ctt>Gtt	p.L397V	DHFRL1_ENST00000481631.1_Intron|ARL13B_ENST00000303097.7_Missense_Mutation_p.L290V|ARL13B_ENST00000539730.1_Missense_Mutation_p.L118V|ARL13B_ENST00000471138.1_Missense_Mutation_p.L397V|ARL13B_ENST00000535334.1_Missense_Mutation_p.L294V	NM_001174150.1	NP_001167621.1	Q3SXY8	AR13B_HUMAN	ADP-ribosylation factor-like 13B	397	Pro-rich.				cilium assembly (GO:0042384)|dorsal/ventral pattern formation (GO:0009953)|formation of radial glial scaffolds (GO:0021943)|heart looping (GO:0001947)|interneuron migration from the subpallium to the cortex (GO:0021830)|left/right axis specification (GO:0070986)|neural tube patterning (GO:0021532)|nonmotile primary cilium assembly (GO:0035058)|small GTPase mediated signal transduction (GO:0007264)|smoothened signaling pathway (GO:0007224)	ciliary membrane (GO:0060170)|cilium (GO:0005929)|intracellular (GO:0005622)|primary cilium (GO:0072372)	GTP binding (GO:0005525)			endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|urinary_tract(2)	10						ACTTGAGCCTCTTGGTGAAAC	0.338																																						ENST00000535334.1																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|urinary_tract(2)	10						c.(880-882)Ctt>Gtt		ADP-ribosylation factor-like 13B							91	92	92					3																	93769715		2203	4300	6503	SO:0001583	missense	200894						GTP binding	g.chr3:93769715C>G	AL713789	CCDS2924.1, CCDS2925.1, CCDS54615.1	3q11	2014-05-09	2005-11-18	2005-11-18	ENSG00000169379	ENSG00000169379		"ADP-ribosylation factors-like", "ADP-ribosylation factors"	25419	protein-coding gene	gene with protein product		608922	"ADP-ribosylation factor-like 2-like 1"	ARL2L1		15314642, 18674751	Standard	NR_033427		Approved	DKFZp761H079, JBTS8	uc003drf.3	Q3SXY8	OTTHUMG00000159012	ENST00000394222.3:c.1189C>G	3.37:g.93769715C>G	ENSP00000377769:p.Leu397Val					DHFRL1_ENST00000481631.1_Intron|ARL13B_ENST00000394222.3_Missense_Mutation_p.L397V|ARL13B_ENST00000303097.7_Missense_Mutation_p.L290V|ARL13B_ENST00000471138.1_Missense_Mutation_p.L397V|ARL13B_ENST00000539730.1_Missense_Mutation_p.L118V	p.L294V	NM_001174151.1	NP_001167622.1	Q3SXY8	AR13B_HUMAN			8	1403	+			397					D3DN29|G3V1S8|Q504W8|Q8TCL5	Missense_Mutation	SNP	ENST00000394222.3	37	c.880C>G	CCDS2925.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.208435	0.79240	.	.	ENSG00000169379	ENST00000535334;ENST00000303097;ENST00000394222;ENST00000471138;ENST00000539730	T;T;T;T;T	0.74315	0.99;-0.83;-0.49;-0.49;0.11	5.47	5.47	0.80525	.	0.000000	0.85682	D	0.000000	D	0.85965	0.5820	M	0.70275	2.135	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;0.999	D;D;D;D	0.85130	0.996;0.973;0.997;0.939	D	0.87152	0.2209	10	0.87932	D	0	-6.8424	18.0865	0.89458	0.0:1.0:0.0:0.0	.	294;397;290;397	G3V1S8;B4DLH1;Q3SXY8-2;Q3SXY8	.;.;.;AR13B_HUMAN	V	294;290;397;397;118	ENSP00000445145:L294V;ENSP00000306225:L290V;ENSP00000377769:L397V;ENSP00000420780:L397V;ENSP00000437977:L118V	ENSP00000306225:L290V	L	+	1	0	ARL13B	95252405	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.656000	0.67988	2.583000	0.87209	0.655000	0.94253	CTT		0.338	ARL13B-005	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352904.1	NM_182896		9	36	0	0	0	1	0	9	36					G	93769715	C	G	93769715	3	3	374	1	0	0	0	0	1	0	0	0	929	913	32	5	1223	5	ARL13B	3	93769715	Missense_Mutation	SNP	C	TCGA-V1-A8MU-01A-11D-A377-08		93769715	104252715	6	18493											
TRIM42	287015	broad.mit.edu	37	chr3	140397286	140397286	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtgttgctgctcttgggccaAtgatcccaactgtaagtgct	7	13	11	10	0	1	1	0	1	1	0	2	1	2	1	2	1	4	5	2	1	3	3			TCGA-V1-A8MU-01A-11D-A377-08	TCGA-V1-A8MU-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	942a31bd-5417-43df-bc54-b74f9d8745ce	3f2fdbd9-19b0-41e2-87f3-ebc0f5fa5215	g.chr3:140397286A>G	ENST00000286349.3	+	1	406	c.215A>G	c.(214-216)aAt>aGt	p.N72S		NM_152616.4	NP_689829.3	Q8IWZ5	TRI42_HUMAN	tripartite motif containing 42	72	Cys-rich.					intracellular (GO:0005622)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(11)|lung(33)|ovary(2)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						TCTTGGGCCAATGATCCCAAC	0.537																																						ENST00000286349.3																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(11)|lung(33)|ovary(2)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						c.(214-216)aAt>aGt		tripartite motif containing 42							119	96	104					3																	140397286		2203	4300	6503	SO:0001583	missense	287015					intracellular	zinc ion binding	g.chr3:140397286A>G	AF521868	CCDS3113.1	3q23	2014-02-17	2011-01-25		ENSG00000155890	ENSG00000155890		"Tripartite motif containing / Tripartite motif containing", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "Fibronectin type III domain containing", "RING-type (C3HC4) zinc fingers"	19014	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 40"		"tripartite motif-containing 42"				Standard	NM_152616		Approved	FLJ40097, PPP1R40	uc003eto.2	Q8IWZ5	OTTHUMG00000160170	ENST00000286349.3:c.215A>G	3.37:g.140397286A>G	ENSP00000286349:p.Asn72Ser						p.N72S	NM_152616.4	NP_689829.3	Q8IWZ5	TRI42_HUMAN			1	406	+			72			Cys-rich.		A1L4B4|Q8N832|Q8NDL3	Missense_Mutation	SNP	ENST00000286349.3	37	c.215A>G	CCDS3113.1	.	.	.	.	.	.	.	.	.	.	A	19.38	3.815978	0.70912	.	.	ENSG00000155890	ENST00000286349	T	0.17054	2.3	5.66	5.66	0.87406	.	0.194905	0.35615	N	0.003084	T	0.26159	0.0638	N	0.19112	0.55	0.33408	D	0.578292	D	0.63880	0.993	D	0.72625	0.978	T	0.35475	-0.9787	10	0.62326	D	0.03	-25.7213	12.2977	0.54857	1.0:0.0:0.0:0.0	.	72	Q8IWZ5	TRI42_HUMAN	S	72	ENSP00000286349:N72S	ENSP00000286349:N72S	N	+	2	0	TRIM42	141879976	0.990000	0.36364	1.000000	0.80357	0.996000	0.88848	1.974000	0.40559	2.154000	0.67381	0.533000	0.62120	AAT		0.537	TRIM42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359531.2	NM_152616		17	53	0	0	0	1	0	17	53					G	140397286	A	G	140397286	3	3	374	1	0	0	0	0	1	0	0	0	16514	101	4	4	217	4	TRIM42	3	140397286	Missense_Mutation	SNP	A	TCGA-V1-A8MU-01A-11D-A377-08	46627571	140397286	57625144	7	18494											
EHHADH	1962	broad.mit.edu	37	chr3	184922509	184922509	+	Frame_Shift_Del	DEL	G	G	-																															tgttgggcaagctctgaattGgcttgttgcagagtctacgg																										TCGA-V1-A8MU-01A-11D-A377-08	TCGA-V1-A8MU-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	942a31bd-5417-43df-bc54-b74f9d8745ce	3f2fdbd9-19b0-41e2-87f3-ebc0f5fa5215	g.chr3:184922509delG	ENST00000231887.3	-	6	680	c.605delC	c.(604-606)ccafs	p.P202fs	EHHADH_ENST00000456310.1_Frame_Shift_Del_p.P106fs	NM_001166415.1|NM_001966.3	NP_001159887.1|NP_001957.2	Q08426	ECHP_HUMAN	enoyl-CoA, hydratase/3-hydroxyacyl CoA dehydrogenase	202	Enoyl-CoA hydratase / isomerase.				fatty acid beta-oxidation (GO:0006635)|internal protein amino acid acetylation (GO:0006475)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|peroxisome (GO:0005777)	3-hydroxyacyl-CoA dehydrogenase activity (GO:0003857)|coenzyme binding (GO:0050662)|dodecenoyl-CoA delta-isomerase activity (GO:0004165)|enoyl-CoA hydratase activity (GO:0004300)|enzyme binding (GO:0019899)|receptor binding (GO:0005102)			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|prostate(2)|skin(3)	24	all_cancers(143;4.04e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		Epithelial(37;1.98e-32)|OV - Ovarian serous cystadenocarcinoma(80;5.55e-21)			GCTCTGAATTGGCTTGTTGCA	0.468																																						ENST00000231887.3																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|prostate(2)|skin(3)	24						c.(604-606)cafs		enoyl-CoA, hydratase/3-hydroxyacyl CoA dehydrogenase	NADH(DB00157)						82	79	80					3																	184922509		2203	4300	6503	SO:0001589	frameshift_variant	1962					peroxisome	3-hydroxyacyl-CoA dehydrogenase activity|coenzyme binding|dodecenoyl-CoA delta-isomerase activity|enoyl-CoA hydratase activity	g.chr3:184922509delG	L07077	CCDS33901.1, CCDS54694.1	3q26.3-q28	2012-07-13	2010-04-30		ENSG00000113790	ENSG00000113790	4.2.1.17, 1.1.1.35, 5.3.3.8		3247	protein-coding gene	gene with protein product		607037	"enoyl-Coenzyme A, hydratase/3-hydroxyacyl Coenzyme A dehydrogenase"	ECHD		8188243	Standard	NM_001966		Approved		uc003fpf.3	Q08426	OTTHUMG00000156698	ENST00000231887.3:c.605delC	3.37:g.184922509delG	ENSP00000231887:p.Pro202fs					EHHADH_ENST00000456310.1_Frame_Shift_Del_p.P106fs	p.P202fs	NM_001166415.1|NM_001966.3	NP_001159887.1|NP_001957.2	Q08426	ECHP_HUMAN	Epithelial(37;1.98e-32)|OV - Ovarian serous cystadenocarcinoma(80;5.55e-21)		6	680	-	all_cancers(143;4.04e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		202			Enoyl-CoA hydratase / isomerase.		A8K6Y3|B4DWG3|D3DNU0|Q58EZ5	Frame_Shift_Del	DEL	ENST00000231887.3	37	c.605delC	CCDS33901.1																																																																																				0.468	EHHADH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345326.1			13	79						13	79	---	---	---	---	-	184922509	G	-	184922509	7	5	374	1	0	1	0	1	0	0	0	0	4982	1348	47	0	1574	0	EHHADH	3	184922509	Frame_Shift_Del	DEL	G	TCGA-V1-A8MU-01A-11D-A377-08	44525223	184922509	13099921	8	18495											
KCTD8	386617	broad.mit.edu	37	chr4	44449755	44449755	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aagcgggacgtgtacttctcCggctgccggtcggggtcgcg	4	8	17	12	7	1	0	0	0	1	0	4	1	1	1	2	5	3	2	2	5	2	2			TCGA-V1-A8MU-01A-11D-A377-08	TCGA-V1-A8MU-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	942a31bd-5417-43df-bc54-b74f9d8745ce	3f2fdbd9-19b0-41e2-87f3-ebc0f5fa5215	g.chr4:44449755C>T	ENST00000360029.3	-	1	1069	c.786G>A	c.(784-786)ccG>ccA	p.P262P	AC131951.1_ENST00000584757.1_RNA	NM_198353.2	NP_938167.1	Q6ZWB6	KCTD8_HUMAN	potassium channel tetramerization domain containing 8	262					protein homooligomerization (GO:0051260)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235)				central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(3)|upper_aerodigestive_tract(4)	41						TGTACTTCTCCGGCTGCCGGT	0.647										HNSCC(17;0.042)																												ENST00000360029.3																			0				central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(3)|upper_aerodigestive_tract(4)	41						c.(784-786)ccG>ccA		potassium channel tetramerization domain containing 8							42	37	39					4																	44449755		2203	4300	6503	SO:0001819	synonymous_variant	386617					cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr4:44449755C>T	AK123347	CCDS3467.1	4p13	2013-06-20	2013-06-20		ENSG00000183783	ENSG00000183783			22394	protein-coding gene	gene with protein product			"potassium channel tetramerisation domain containing 8"				Standard	NM_198353		Approved		uc003gwu.3	Q6ZWB6	OTTHUMG00000099409	ENST00000360029.3:c.786G>A	4.37:g.44449755C>T		HNSCC(17;0.042)					p.P262P	NM_198353.2	NP_938167.1	Q6ZWB6	KCTD8_HUMAN			1	1069	-			262					A2RU39	Silent	SNP	ENST00000360029.3	37	c.786G>A	CCDS3467.1																																																																																				0.647	KCTD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216868.1			9	36	0	0	0	1	0	9	36					T	44449755	C	T	44449755	2	4	374	1	0	0	0	0	0	0	0	1	8115	639	23	2		2	KCTD8	4	44449755	Silent	SNP	C	TCGA-V1-A8MU-01A-11D-A377-08		44449755	146704521	9	18496											
ADAMTS19	171019	broad.mit.edu	37	chr5	128994429	128994429	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttaatcacaccagaggagcAggtaatttttctttattttt	11	18	6	6	0	2	1	1	0	1	1	2	2	2	2	1	2	1	2	1	2	3	9			TCGA-V1-A8MU-01A-11D-A377-08	TCGA-V1-A8MU-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	942a31bd-5417-43df-bc54-b74f9d8745ce	3f2fdbd9-19b0-41e2-87f3-ebc0f5fa5215	g.chr5:128994429A>G	ENST00000274487.4	+	15	2551	c.2406A>G	c.(2404-2406)gcA>gcG	p.A802A	CTC-575N7.1_ENST00000503616.1_RNA	NM_133638.3	NP_598377.3	Q8TE59	ATS19_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 19	802	Spacer.					proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)		CCAGAGGAGCAGGTAATTTTT	0.313																																						ENST00000274487.4																			0				NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91						c.e15+1		ADAM metallopeptidase with thrombospondin type 1 motif, 19							97	100	99					5																	128994429		2203	4300	6503	SO:0001630	splice_region_variant	171019				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:128994429A>G	AJ311904	CCDS4146.1	5q23.3	2009-04-27	2005-08-19		ENSG00000145808	ENSG00000145808		"ADAM metallopeptidases with thrombospondin type 1 motif"	17111	protein-coding gene	gene with protein product		607513	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 19"			11867212	Standard	NM_133638		Approved		uc003kvb.1	Q8TE59	OTTHUMG00000128990	ENST00000274487.4:c.2407+1A>G	5.37:g.128994429A>G						CTC-575N7.1_ENST00000503616.1_RNA	p.A802_splice	NM_133638.3	NP_598377.3	Q8TE59	ATS19_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)	15	2551	+		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	802			Spacer.			Splice_Site	SNP	ENST00000274487.4	37	c.2407_splice	CCDS4146.1																																																																																				0.313	ADAMTS19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250979.2	NM_133638	Silent	13	38	0	0	0	1	0	13	38					G	128994429	A	G	128994429	5	3	374	1	0	0	0	0	0	0	1	0	264	202	7	4	2464	4	ADAMTS19	5	128994429	Splice_Site	SNP	A	TCGA-V1-A8MU-01A-11D-A377-08		128994429	51920831	10	18497											
PCDHA7	56141	broad.mit.edu	37	chr5	140215501	140215501	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgagctacgtgtcagtgcaCgcggagagcggcaaggtgta	9	7	16	9	5	1	1	1	0	0	1	2	3	1	1	0	3	4	4	0	3	3	2			TCGA-V1-A8MU-01A-11D-A377-08	TCGA-V1-A8MU-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	942a31bd-5417-43df-bc54-b74f9d8745ce	3f2fdbd9-19b0-41e2-87f3-ebc0f5fa5215	g.chr5:140215501C>T	ENST00000525929.1	+	1	1533	c.1533C>T	c.(1531-1533)caC>caT	p.H511H	PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA7_ENST00000378125.3_Silent_p.H511H|PCDHA3_ENST00000522353.2_Intron	NM_018910.2	NP_061733.1	Q9UN72	PCDA7_HUMAN	protocadherin alpha 7	511	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGTCAGTGCACGCGGAGAGCG	0.706																																					NSCLC(160;258 2013 5070 22440 28951)	ENST00000525929.1																			0				NS(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63						c.(1531-1533)caC>caT									68	73	71					5																	140215501		2203	4296	6499	SO:0001819	synonymous_variant	0							g.chr5:140215501C>T	AF152485	CCDS54918.1	5q31	2010-11-26				ENSG00000204963		"Cadherins / Protocadherins : Clustered"	8673	other	complex locus constituent	"KIAA0345-like 7", "ortholog to mouse CNR4"	606313		CNRS4		10380929, 10662547	Standard	NM_018910		Approved	CNR4, CRNR4		Q9UN72		ENST00000525929.1:c.1533C>T	5.37:g.140215501C>T						PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA7_ENST00000378125.3_Silent_p.H511H	p.H511H	NM_018910.2	NP_061733.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1533	+								O75282	Silent	SNP	ENST00000525929.1	37	c.1533C>T	CCDS54918.1																																																																																				0.706	PCDHA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372887.2	NM_018910		36	97	0	0	0	1	0	36	97					T	140215501	C	T	140215501	2	4	374	1	0	0	0	0	0	0	0	1	11529	535	19	1		1	PCDHA7	5	140215501	Silent	SNP	C	TCGA-V1-A8MU-01A-11D-A377-08	11221072	140215501	40699759	11	18498											
PCDHA8	56140	broad.mit.edu	37	chr5	140222414	140222414	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcggcgggtgggcgagcgctCgctgtcgagctacatttcgg	4	8	18	11	7	0	0	0	0	0	0	3	2	0	0	0	4	3	3	0	4	1	2	rs376777545		TCGA-V1-A8MU-01A-11D-A377-08	TCGA-V1-A8MU-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	942a31bd-5417-43df-bc54-b74f9d8745ce	3f2fdbd9-19b0-41e2-87f3-ebc0f5fa5215	g.chr5:140222414C>A	ENST00000531613.1	+	1	1508	c.1508C>A	c.(1507-1509)tCg>tAg	p.S503*	PCDHA4_ENST00000512229.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA8_ENST00000378123.3_Nonsense_Mutation_p.S503*|PCDHA3_ENST00000522353.2_Intron	NM_018911.2	NP_061734.1	Q9Y5H6	PCDA8_HUMAN	protocadherin alpha 8	503	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(2)|breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(31)|ovary(2)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(6)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGCGAGCGCTCGCTGTCGAGC	0.667																																						ENST00000531613.1																			0				NS(2)|breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(31)|ovary(2)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(6)	78						c.(1507-1509)tCg>tAg									50	56	54					5																	140222414		2194	4263	6457	SO:0001587	stop_gained	0							g.chr5:140222414C>A	AF152486	CCDS54919.1	5q31	2010-11-26				ENSG00000204962		"Cadherins / Protocadherins : Clustered"	8674	other	complex locus constituent	"KIAA0345-like 6"	606314				10380929	Standard	NM_018911		Approved			Q9Y5H6		ENST00000531613.1:c.1508C>A	5.37:g.140222414C>A	ENSP00000434655:p.Ser503*					PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA8_ENST00000378123.3_Nonsense_Mutation_p.S503*	p.S503*	NM_018911.2	NP_061734.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1508	+								B9EGT7|O75281	Nonsense_Mutation	SNP	ENST00000531613.1	37	c.1508C>A	CCDS54919.1	.	.	.	.	.	.	.	.	.	.	C	17.21	3.331333	0.60853	.	.	ENSG00000204962	ENST00000531613;ENST00000378123	.	.	.	3.72	1.85	0.25348	.	1.572370	0.04649	U	0.406814	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.27785	T	0.31	.	8.7965	0.34883	0.0:0.8118:0.0:0.1882	.	.	.	.	X	503	.	ENSP00000367363:S503X	S	+	2	0	PCDHA8	140202598	0.198000	0.23374	0.618000	0.29105	0.207000	0.24258	0.878000	0.28126	0.176000	0.19873	0.306000	0.20318	TCG		0.667	PCDHA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372830.2	NM_018911		18	61	1	0	2.4624e-09	1	2.81417e-09	18	61					A	140222414	C	A	140222414	4	1	374	1	0	0	0	0	0	1	0	0	11530	893	31	5	1510	5	PCDHA8	5	140222414	Nonsense_Mutation	SNP	C	TCGA-V1-A8MU-01A-11D-A377-08	6913	140222414	40692846	12	18499											
PCDHB7	56129	broad.mit.edu	37	chr5	140554104	140554104	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	caactcgcccttcgtgctgtAcccgctgcagaacagctccg	7	8	9	17	4	0	1	0	0	0	1	3	1	1	1	3	0	6	5	3	0	3	2			TCGA-V1-A8MU-01A-11D-A377-08	TCGA-V1-A8MU-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	942a31bd-5417-43df-bc54-b74f9d8745ce	3f2fdbd9-19b0-41e2-87f3-ebc0f5fa5215	g.chr5:140554104A>G	ENST00000231137.3	+	1	1862	c.1688A>G	c.(1687-1689)tAc>tGc	p.Y563C		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN	protocadherin beta 7	563					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.Y563F(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TTCGTGCTGTACCCGCTGCAG	0.736																																						ENST00000231137.3																			1	Substitution - Missense(1)	p.Y563F(1)	large_intestine(1)	NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						c.(1687-1689)tAc>tGc									27	32	31					5																	140554104		2181	4287	6468	SO:0001583	missense	0				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140554104A>G	AF152500	CCDS4249.1	5q31	2010-01-26			ENSG00000113212	ENSG00000113212		"Cadherins / Protocadherins : Clustered"	8692	other	protocadherin		606333				10380929	Standard	NM_018940		Approved	PCDH-BETA7	uc003lit.3	Q9Y5E2	OTTHUMG00000129608	ENST00000231137.3:c.1688A>G	5.37:g.140554104A>G	ENSP00000231137:p.Tyr563Cys						p.Y563C	NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1862	+			563					A1L3Y8	Missense_Mutation	SNP	ENST00000231137.3	37	c.1688A>G	CCDS4249.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	a|a	17.39|17.39	3.376803|3.376803	0.61735|0.61735	.|.	.|.	ENSG00000113212|ENSG00000113212	ENST00000543636|ENST00000231137	.|T	.|0.61040	.|0.14	4.3|4.3	4.3|4.3	0.51218|0.51218	.|Cadherin-like (1);	.|.	.|.	.|.	.|.	T|T	0.80507|0.80507	0.4636|0.4636	M|M	0.92604|0.92604	3.325|3.325	0.37562|0.37562	D|D	0.91911|0.91911	.|D	.|0.89917	.|1.0	.|D	.|0.91635	.|0.999	D|D	0.87367|0.87367	0.2348|0.2348	6|9	0.87932|0.87932	D|D	0|0	.|.	13.4597|13.4597	0.61221|0.61221	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|563	.|Q9Y5E2	.|PCDB7_HUMAN	A|C	346|563	.|ENSP00000231137:Y563C	ENSP00000440828:T346A|ENSP00000231137:Y563C	T|Y	+|+	1|2	0|0	PCDHB7|PCDHB7	140534288|140534288	0.381000|0.381000	0.25140|0.25140	1.000000|1.000000	0.80357|0.80357	0.946000|0.946000	0.59487|0.59487	2.543000|2.543000	0.45752|0.45752	1.705000|1.705000	0.51264|0.51264	0.369000|0.369000	0.22263|0.22263	ACC|TAC		0.736	PCDHB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251803.2	NM_018940		14	32	0	0	0	1	0	14	32					G	140554104	A	G	140554104	3	3	374	1	0	0	0	0	1	0	0	0	11547	391	14	4	1690	4	PCDHB7	5	140554104	Missense_Mutation	SNP	A	TCGA-V1-A8MU-01A-11D-A377-08	331690	140554104	40361156	13	18500											
OR12D3	81797	broad.mit.edu	37	chr6	29342301	29342301	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	caggacgaatatatgtgaagCccacaggtccatagaaaaga	17	6	10	8	1	0	3	0	1	0	2	1	5	1	4	2	2	1	0	2	2	7	3			TCGA-V1-A8MU-01A-11D-A377-08	TCGA-V1-A8MU-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	942a31bd-5417-43df-bc54-b74f9d8745ce	3f2fdbd9-19b0-41e2-87f3-ebc0f5fa5215	g.chr6:29342301C>A	ENST00000396806.3	-	1	767	c.764G>T	c.(763-765)gGc>gTc	p.G255V	OR5V1_ENST00000377154.1_Intron	NM_030959.2	NP_112221.1	Q9UGF7	O12D3_HUMAN	olfactory receptor, family 12, subfamily D, member 3	255						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)	23						ATATGTGAAGCCCACAGGTCC	0.478																																						ENST00000396806.3																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)	23						c.(763-765)gGc>gTc		olfactory receptor, family 12, subfamily D, member 3							73	68	70					6																	29342301		1510	2709	4219	SO:0001583	missense	81797				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr6:29342301C>A		CCDS4658.1	6p22.1	2013-09-24			ENSG00000112462	ENSG00000112462		"GPCR / Class A : Olfactory receptors"	13963	protein-coding gene	gene with protein product							Standard	NM_030959		Approved	hs6M1-27	uc003nme.3	Q9UGF7	OTTHUMG00000031051	ENST00000396806.3:c.764G>T	6.37:g.29342301C>A	ENSP00000380023:p.Gly255Val					OR5V1_ENST00000377154.1_Intron	p.G255V	NM_030959.2	NP_112221.1	Q9UGF7	O12D3_HUMAN			1	767	-			255					A2BDZ1|Q5SQI8|Q6IF23	Missense_Mutation	SNP	ENST00000396806.3	37	c.764G>T	CCDS4658.1	.	.	.	.	.	.	.	.	.	.	c	0.026	-1.371530	0.01225	.	.	ENSG00000112462	ENST00000377143;ENST00000396806	T	0.34472	1.36	4.19	-0.484	0.12071	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.04998	0.0134	N	0.02697	-0.525	0.09310	N	0.999998	B	0.16166	0.016	B	0.16289	0.015	T	0.41574	-0.9501	9	0.35671	T	0.21	-1.7712	8.5676	0.33550	0.6465:0.2389:0.1146:0.0	.	255	Q9UGF7	O12D3_HUMAN	V	255	ENSP00000380023:G255V	ENSP00000366348:G255V	G	-	2	0	OR12D3	29450280	0.000000	0.05858	0.001000	0.08648	0.258000	0.26162	-0.190000	0.09615	0.037000	0.15575	-0.984000	0.02558	GGC		0.478	OR12D3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076056.3			3	40	1	0	0.00024832	1	0.000254687	3	40					A	29342301	C	A	29342301	3	1	374	1	0	0	0	0	1	0	0	0	10932	739	26	5	190	5	OR12D3	6	29342301	Missense_Mutation	SNP	C	TCGA-V1-A8MU-01A-11D-A377-08		29342301	141772766	14	18501											
KIAA0240	23506	broad.mit.edu	37	chr6	42832986	42832986	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gaaaccacatttaagaacatCttggaactcaaaaaggcggg	17	7	9	8	1	2	1	1	0	1	1	2	3	2	2	1	3	3	0	1	3	6	3	rs373499042		TCGA-V1-A8MU-01A-11D-A377-08	TCGA-V1-A8MU-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	942a31bd-5417-43df-bc54-b74f9d8745ce	3f2fdbd9-19b0-41e2-87f3-ebc0f5fa5215	g.chr6:42832986C>G	ENST00000314073.5	+	13	3218	c.3042C>G	c.(3040-3042)atC>atG	p.I1014M	GLTSCR1L_ENST00000394168.1_Missense_Mutation_p.I1014M			Q6AI39	GSC1L_HUMAN	GLTSCR1-like	1014																	TTAAGAACATCTTGGAACTCA	0.493																																						ENST00000314073.5																			0											c.(3040-3042)atC>atG		GLTSCR1-like							52	58	56					6																	42832986		2203	4300	6503	SO:0001583	missense	23506							g.chr6:42832986C>G	AL833540	CCDS34451.1	6p21.1	2012-11-29	2012-11-29	2012-11-29	ENSG00000112624	ENSG00000112624			21111	protein-coding gene	gene with protein product			"KIAA0240"	KIAA0240			Standard	XM_005248972		Approved		uc003osp.1	Q6AI39	OTTHUMG00000014706	ENST00000314073.5:c.3042C>G	6.37:g.42832986C>G	ENSP00000313933:p.Ile1014Met					GLTSCR1L_ENST00000394168.1_Missense_Mutation_p.I1014M	p.I1014M							13	3218	+								A1L3W2|Q5TFZ3|Q92514	Missense_Mutation	SNP	ENST00000314073.5	37	c.3042C>G	CCDS34451.1	.	.	.	.	.	.	.	.	.	.	C	15.97	2.990013	0.54041	.	.	ENSG00000112624	ENST00000394167;ENST00000314073;ENST00000394168	T;T	0.55760	0.5;0.5	5.56	3.77	0.43336	.	0.082573	0.52532	D	0.000075	T	0.17704	0.0425	N	0.24115	0.695	0.35126	D	0.767498	B	0.24368	0.102	B	0.22152	0.038	T	0.08411	-1.0723	10	0.87932	D	0	-19.2535	3.4174	0.07381	0.1403:0.5766:0.1358:0.1473	.	1014	Q6AI39	K0240_HUMAN	M	1014	ENSP00000313933:I1014M;ENSP00000377723:I1014M	ENSP00000313933:I1014M	I	+	3	3	KIAA0240	42940964	0.982000	0.34865	1.000000	0.80357	0.997000	0.91878	0.017000	0.13399	1.346000	0.45694	0.655000	0.94253	ATC		0.493	GLTSCR1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040562.3	NM_015349		11	31	0	0	0	1	0	11	31					G	42832986	C	G	42832986	3	3	374	1	0	0	0	0	1	0	0	0	8164	903	32	5	3084	5	KIAA0240	6	42832986	Missense_Mutation	SNP	C	TCGA-V1-A8MU-01A-11D-A377-08	13490685	42832986	128282081	15	18502											
BRAF	673	broad.mit.edu	37	chr7	140453134	140453134	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggacccactccatcgagattTcactgtagctagaccaaaat	13	9	7	12	1	1	2	1	0	0	2	3	4	2	3	3	1	1	2	3	1	4	3	rs397516897|rs121913364|rs121913226|rs121913377		TCGA-V1-A8MU-01A-11D-A377-08	TCGA-V1-A8MU-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	942a31bd-5417-43df-bc54-b74f9d8745ce	3f2fdbd9-19b0-41e2-87f3-ebc0f5fa5215	g.chr7:140453134T>C	ENST00000288602.6	-	15	1861	c.1801A>G	c.(1801-1803)Aaa>Gaa	p.K601E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	601	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		K -> E (in CRC). {ECO:0000269|PubMed:12198537}.|K -> Q (in CFC1). {ECO:0000269|PubMed:19206169}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.K601E(40)|p.V600_K601>E(12)|p.T599_R603>I(2)|p.K601del(1)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	CATCGAGATTTCACTGTAGCT	0.368		61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	ENST00000288602.6		61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	58	Substitution - Missense(40)|Complex - deletion inframe(17)|Deletion - In frame(1)	p.K601E(40)|p.V600_K601>E(12)|p.T599_R603>I(2)|p.K601del(1)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)	thyroid(30)|skin(15)|large_intestine(5)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|endometrium(1)|lung(1)|NS(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1801-1803)Aaa>Gaa		v-raf murine sarcoma viral oncogene homolog B	Sorafenib(DB00398)						111	103	106					7																	140453134		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453134T>C	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1801A>G	7.37:g.140453134T>C	ENSP00000288602:p.Lys601Glu						p.K601E	NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN			15	1861	-	Melanoma(164;0.00956)		601		K -> E (in colorectal cancer).|K -> Q (in CFC syndrome).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1801A>G	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	23.8|23.8	4.454487|4.454487	0.84209|0.84209	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.82711|.	-1.64|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.54464|.	0.1860|.	N|N	0.25380|0.25380	0.74|0.74	0.80722|0.80722	D|D	1|1	P|.	0.42584|.	0.784|.	P|.	0.49922|.	0.626|.	T|.	0.51108|.	-0.8747|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	601|.	P15056|.	BRAF_HUMAN|.	E|W	601|208	ENSP00000288602:K601E|.	ENSP00000288602:K601E|.	K|X	-|-	1|3	0|0	BRAF|BRAF	140099603|140099603	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	7.921000|7.921000	0.87530|0.87530	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	AAA|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		11	40	0	0	0	1	0	11	40					C	140453134	T	C	140453134	3	2	374	1	0	0	0	0	1	0	0	0	1496	1792	62	4	515	4	BRAF	7	140453134	Missense_Mutation	SNP	T	TCGA-V1-A8MU-01A-11D-A377-08		140453134	18685529	16	18503											
PTCHD3	374308	broad.mit.edu	37	chr10	27702370	27702370	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gttttgttcacctgccaggcGtacaggatcgggttgggggg	5	11	17	8	2	1	0	1	0	0	0	2	1	1	1	2	6	2	4	2	6	1	5	rs376677291		TCGA-V1-A8MU-01A-11D-A377-08	TCGA-V1-A8MU-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	942a31bd-5417-43df-bc54-b74f9d8745ce	3f2fdbd9-19b0-41e2-87f3-ebc0f5fa5215	g.chr10:27702370G>A	ENST00000438700.3	-	1	927	c.810C>T	c.(808-810)taC>taT	p.Y270Y		NM_001034842.3	NP_001030014.2	Q3KNS1	PTHD3_HUMAN	patched domain containing 3	270					spermatid development (GO:0007286)	integral component of membrane (GO:0016021)|sperm midpiece (GO:0097225)	hedgehog receptor activity (GO:0008158)	p.Y270Y(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	55						CCTGCCAGGCGTACAGGATCG	0.627																																						ENST00000438700.3																			1	Substitution - coding silent(1)	p.Y270Y(1)	kidney(1)	NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	55						c.(808-810)taC>taT		patched domain containing 3		A		1,4405	2.1+/-5.4	0,1,2202	52	57	55		810	0.1	0	10		55	0,8600		0,0,4300	no	coding-synonymous	PTCHD3	NM_001034842.3		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		270/768	27702370	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	374308				spermatid development	integral to membrane	hedgehog receptor activity	g.chr10:27702370G>A	AK126025	CCDS31173.1	10p12.1	2006-05-26			ENSG00000182077	ENSG00000182077			24776	protein-coding gene	gene with protein product		611791					Standard	NM_001034842		Approved	FLJ44037, PTR	uc001itu.2	Q3KNS1	OTTHUMG00000017860	ENST00000438700.3:c.810C>T	10.37:g.27702370G>A							p.Y270Y	NM_001034842.3	NP_001030014.2	Q3KNS1	PTHD3_HUMAN			1	927	-			270					I3L499|Q6ZU28	Silent	SNP	ENST00000438700.3	37	c.810C>T	CCDS31173.1																																																																																				0.627	PTCHD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047325.3	XM_370541		7	21	0	0	0	1	0	7	21					A	27702370	G	A	27702370	2	1	374	1	0	0	0	0	0	0	0	1	12734	1140	40	1		1	PTCHD3	10	27702370	Silent	SNP	G	TCGA-V1-A8MU-01A-11D-A377-08		27702370	107832377	17	18504											
ATE1	11101	broad.mit.edu	37	chr10	123658410	123658410	+	Intron	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgtatggccacttgatacttGacatacaaagaaaaggactg	15	10	9	7	0	0	3	0	2	0	1	0	4	0	4	1	2	2	1	1	2	6	5			TCGA-V1-A8MU-01A-11D-A377-08	TCGA-V1-A8MU-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	942a31bd-5417-43df-bc54-b74f9d8745ce	3f2fdbd9-19b0-41e2-87f3-ebc0f5fa5215	g.chr10:123658410G>C	ENST00000224652.6	-	7	1028				ATE1_ENST00000481784.1_Intron|ATE1_ENST00000540606.1_Silent_p.V289V|ATE1_ENST00000543447.1_Intron|ATE1_ENST00000369043.3_Silent_p.V296V|ATE1_ENST00000369040.3_Silent_p.V200V|ATE1_ENST00000535655.1_Intron	NM_001001976.1	NP_001001976.1	O95260	ATE1_HUMAN	arginyltransferase 1						protein arginylation (GO:0016598)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	arginyltransferase activity (GO:0004057)			endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		all_neural(114;0.061)|Lung NSC(174;0.095)|all_lung(145;0.124)|Breast(234;0.212)				CTTGATACTTGACATACAAAG	0.443																																						ENST00000369043.3																			0				endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						c.(886-888)gtC>gtG		arginyltransferase 1							197	163	175					10																	123658410		2203	4300	6503	SO:0001627	intron_variant	11101				protein arginylation	cytoplasm|nucleus	acyltransferase activity|arginyltransferase activity	g.chr10:123658410G>C	AF079098	CCDS31299.1, CCDS31300.1, CCDS73211.1, CCDS73212.1, CCDS73213.1	10q26	2013-05-08			ENSG00000107669	ENSG00000107669	2.3.2.8		782	protein-coding gene	gene with protein product		607103				16002466, 16943202	Standard	XM_005269458		Approved		uc001lfq.3	O95260	OTTHUMG00000019178	ENST00000224652.6:c.942+970C>G	10.37:g.123658410G>C						ATE1_ENST00000543447.1_Intron|ATE1_ENST00000369040.3_Silent_p.V200V|ATE1_ENST00000535655.1_Intron|ATE1_ENST00000481784.1_Intron|ATE1_ENST00000224652.6_Intron|ATE1_ENST00000540606.1_Silent_p.V289V	p.V296V	NM_007041.2	NP_008972.2	O95260	ATE1_HUMAN			7	974	-		all_neural(114;0.061)|Lung NSC(174;0.095)|all_lung(145;0.124)|Breast(234;0.212)	296					O95261|Q5SQQ3|Q8WW04	Silent	SNP	ENST00000224652.6	37	c.888C>G	CCDS31300.1																																																																																				0.443	ATE1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_001001976		9	29	0	0	0	1	0	9	29					C	123658410	G	C	123658410	1	2	374	0	1	0	0	0	0	0	0	0	1078	1277	45	5		5	ATE1	10	123658410	Intron	SNP	G	TCGA-V1-A8MU-01A-11D-A377-08	95956040	123658410	11876337	18	18505											
MUC2	4583	broad.mit.edu	37	chr11	1075772	1075772	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gactacaacttcgcctccgaCtgccgaggctcctacaagga	10	7	9	15	3	0	0	0	0	0	0	3	4	2	1	4	2	4	1	4	2	4	3			TCGA-V1-A8MU-01A-11D-A377-08	TCGA-V1-A8MU-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	942a31bd-5417-43df-bc54-b74f9d8745ce	3f2fdbd9-19b0-41e2-87f3-ebc0f5fa5215	g.chr11:1075772C>G	ENST00000441003.2	+	2	225	c.198C>G	c.(196-198)gaC>gaG	p.D66E	MUC2_ENST00000359061.5_Missense_Mutation_p.D66E	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	66	VWFD 1. {ECO:0000255|PROSITE- ProRule:PRU00580}.				cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi lumen (GO:0005796)|inner mucus layer (GO:0070702)|outer mucus layer (GO:0070703)				NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	TCGCCTCCGACTGCCGAGGCT	0.642																																						ENST00000441003.2																			0				NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102						c.(196-198)gaC>gaG		mucin 2, oligomeric mucus/gel-forming	Pranlukast(DB01411)						21	25	24					11																	1075772		2016	4168	6184	SO:0001583	missense	4583					inner mucus layer|outer mucus layer	protein binding	g.chr11:1075772C>G	L21998		11p15.5	2011-01-28	2006-03-14		ENSG00000198788	ENSG00000198788		"Mucins"	7512	protein-coding gene	gene with protein product		158370	"mucin 2, intestinal/tracheal"			15081123	Standard	NM_002457		Approved		uc001lsx.1	Q02817	OTTHUMG00000156800	ENST00000441003.2:c.198C>G	11.37:g.1075772C>G	ENSP00000415183:p.Asp66Glu					MUC2_ENST00000359061.5_Missense_Mutation_p.D66E	p.D66E	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	2	225	+		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)	66			VWFD 1.		Q14878	Missense_Mutation	SNP	ENST00000441003.2	37	c.198C>G		.	.	.	.	.	.	.	.	.	.	C	8.179	0.793336	0.16327	.	.	ENSG00000198788	ENST00000441003;ENST00000359061	T;T	0.60797	0.16;0.16	3.42	2.49	0.30216	.	0.077095	0.47455	U	0.000230	T	0.70500	0.3231	M	0.80422	2.495	0.32041	N	0.598185	P	0.51057	0.941	P	0.59171	0.853	T	0.74349	-0.3694	10	0.40728	T	0.16	.	11.2041	0.48758	0.0:0.822:0.0:0.178	.	66	E7EUV1	.	E	66	ENSP00000415183:D66E;ENSP00000351956:D66E	ENSP00000351956:D66E	D	+	3	2	MUC2	1065772	1.000000	0.71417	0.801000	0.32222	0.089000	0.18198	1.429000	0.34903	0.175000	0.19841	-1.134000	0.01955	GAC		0.642	MUC2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000345894.2	NM_002457		7	9	0	0	0	1	0	7	9					G	1075772	C	G	1075772	3	3	374	1	0	0	0	0	1	0	0	0	9975	564	20	5	204	5	MUC2	11	1075772	Missense_Mutation	SNP	C	TCGA-V1-A8MU-01A-11D-A377-08		1075772	133930744	19	18506											
MUC5B	727897	broad.mit.edu	37	chr11	1273662	1273662	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acattgaccgcttccagggcGcctgtcccacctccccaccg	6	7	8	20	3	0	1	0	1	0	0	3	1	3	1	8	1	0	1	8	1	0	2	rs372995452	byFrequency	TCGA-V1-A8MU-01A-11D-A377-08	TCGA-V1-A8MU-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	942a31bd-5417-43df-bc54-b74f9d8745ce	3f2fdbd9-19b0-41e2-87f3-ebc0f5fa5215	g.chr11:1273662G>A	ENST00000529681.1	+	32	15011	c.14953G>A	c.(14953-14955)Gcc>Acc	p.A4985T	MUC5B_ENST00000447027.1_Missense_Mutation_p.A4988T|RP11-532E4.2_ENST00000532061.2_RNA	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	4985					cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CTTCCAGGGCGCCTGTCCCAC	0.637													G|||	5	0.000998403	0	0	5008	,	,		15950	0.005		0	False		,,,				2504	0					ENST00000447027.1																			0				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137						c.(14962-14964)Gcc>Acc		mucin 5B, oligomeric mucus/gel-forming							55	70	65					11																	1273662		2118	4216	6334	SO:0001583	missense	727897				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	g.chr11:1273662G>A	U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"Mucins"	7516	protein-coding gene	gene with protein product		600770	"mucin 5, subtype B, tracheobronchial"	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.14953G>A	11.37:g.1273662G>A	ENSP00000436812:p.Ala4985Thr					MUC5B_ENST00000529681.1_Missense_Mutation_p.A4985T	p.A4988T			Q9HC84	MUC5B_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)	32	15020	+		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	4985					O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Missense_Mutation	SNP	ENST00000529681.1	37	c.14962G>A	CCDS44515.2	.	.	.	.	.	.	.	.	.	.	G	2.474	-0.321184	0.05386	.	.	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637;ENST00000406844	T;T	0.16743	2.32;2.51	4.63	-9.26	0.00662	.	.	.	.	.	T	0.05456	0.0144	N	0.02539	-0.55	0.09310	N	1	B;B	0.10296	0.003;0.003	B;B	0.04013	0.001;0.001	T	0.49862	-0.8894	9	0.87932	D	0	.	7.927	0.29880	0.1514:0.3434:0.4375:0.0676	.	5307;4988	A7Y9J9;E9PBJ0	.;.	T	4985;4988;4929;4684	ENSP00000436812:A4985T;ENSP00000415793:A4988T	ENSP00000343037:A4929T	A	+	1	0	MUC5B	1230238	0.000000	0.05858	0.001000	0.08648	0.031000	0.12232	-2.871000	0.00720	-3.543000	0.00144	-1.223000	0.01593	GCC		0.637	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093		9	32	0	0	0	1	0	9	32					A	1273662	G	A	1273662	3	1	374	1	0	0	0	0	1	0	0	0	9979	1087	38	1	15088	1	MUC5B	11	1273662	Missense_Mutation	SNP	G	TCGA-V1-A8MU-01A-11D-A377-08	197890	1273662	133732854	20	18507											
MOGAT2	80168	broad.mit.edu	37	chr11	75442268	75442268	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tatatcaaagagctgtgcaaCctcttcgaggcccacaaact	13	9	7	12	1	2	1	1	0	1	1	3	2	2	1	2	1	4	2	2	1	5	3			TCGA-V1-A8MU-01A-11D-A377-08	TCGA-V1-A8MU-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	942a31bd-5417-43df-bc54-b74f9d8745ce	3f2fdbd9-19b0-41e2-87f3-ebc0f5fa5215	g.chr11:75442268C>A	ENST00000198801.5	+	6	1012	c.942C>A	c.(940-942)aaC>aaA	p.N314K	MOGAT2_ENST00000526712.1_Missense_Mutation_p.N232K	NM_025098.2	NP_079374.2	Q3SYC2	MOGT2_HUMAN	monoacylglycerol O-acyltransferase 2	314					diacylglycerol biosynthetic process (GO:0006651)|glycerol metabolic process (GO:0006071)|intestinal absorption (GO:0050892)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	2-acylglycerol O-acyltransferase activity (GO:0003846)|acetyltransferase activity (GO:0016407)			NS(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	20	Ovarian(111;0.103)					AGCTGTGCAACCTCTTCGAGG	0.567																																						ENST00000526712.1																			0				NS(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	20						c.(694-696)aaC>aaA		monoacylglycerol O-acyltransferase 2							122	106	112					11																	75442268		2200	4293	6493	SO:0001583	missense	80168				glycerol metabolic process	endoplasmic reticulum membrane|integral to membrane	2-acylglycerol O-acyltransferase activity	g.chr11:75442268C>A	AY157608	CCDS8240.1	11q13.5	2008-02-05			ENSG00000166391	ENSG00000166391			23248	protein-coding gene	gene with protein product		610270				14970677	Standard	NM_025098		Approved	MGAT2, DGAT2L5, FLJ22644	uc010rru.2	Q3SYC2	OTTHUMG00000165341	ENST00000198801.5:c.942C>A	11.37:g.75442268C>A	ENSP00000198801:p.Asn314Lys					MOGAT2_ENST00000198801.5_Missense_Mutation_p.N314K	p.N232K			Q3SYC2	MOGT2_HUMAN			5	1469	+	Ovarian(111;0.103)		314					A8K7I3|Q3SYC1|Q6ZQZ2|Q86UH6|Q9H630	Missense_Mutation	SNP	ENST00000198801.5	37	c.696C>A	CCDS8240.1	.	.	.	.	.	.	.	.	.	.	C	3.482	-0.105663	0.06924	.	.	ENSG00000166391	ENST00000198801;ENST00000526712	T;T	0.13196	2.61;2.61	6.17	3.25	0.37280	.	0.940855	0.09223	N	0.831639	T	0.04092	0.0114	N	0.01624	-0.795	0.22127	N	0.999342	B	0.02656	0.0	B	0.11329	0.006	T	0.41520	-0.9504	10	0.02654	T	1	-13.172	6.0048	0.19541	0.124:0.4355:0.3689:0.0716	.	314	Q3SYC2	MOGT2_HUMAN	K	314;232	ENSP00000198801:N314K;ENSP00000436283:N232K	ENSP00000198801:N314K	N	+	3	2	MOGAT2	75119916	0.003000	0.15002	0.677000	0.29947	0.998000	0.95712	-0.190000	0.09615	0.445000	0.26639	0.655000	0.94253	AAC		0.567	MOGAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383520.1	NM_025098		16	44	1	0	0.000566183	1	0.000566183	16	44					A	75442268	C	A	75442268	3	1	374	1	0	0	0	0	1	0	0	0	9695	506	18	5	964	5	MOGAT2	11	75442268	Missense_Mutation	SNP	C	TCGA-V1-A8MU-01A-11D-A377-08	74168606	75442268	59564248	21	18508											
HSPB2	3316	broad.mit.edu	37	chr11	111784196	111784196	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagagatcctgacccccacActctaccatggctactatgt	11	9	7	14	0	1	2	0	1	1	1	2	4	2	2	4	1	2	1	4	1	4	3			TCGA-V1-A8MU-01A-11D-A377-08	TCGA-V1-A8MU-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	942a31bd-5417-43df-bc54-b74f9d8745ce	3f2fdbd9-19b0-41e2-87f3-ebc0f5fa5215	g.chr11:111784196A>G	ENST00000304298.3	+	2	714	c.126A>G	c.(124-126)acA>acG	p.T42T	CRYAB_ENST00000527950.1_Intron|CRYAB_ENST00000533280.1_5'Flank|CRYAB_ENST00000525823.1_5'Flank|CRYAB_ENST00000531198.1_5'Flank|CRYAB_ENST00000533971.1_5'Flank|CRYAB_ENST00000533475.1_Intron|CRYAB_ENST00000526180.1_5'Flank|CRYAB_ENST00000227251.3_5'Flank|HSPB2-C11orf52_ENST00000534100.1_Intron|HSPB2_ENST00000537382.1_Silent_p.T42T	NM_001541.3	NP_001532.1	Q16082	HSPB2_HUMAN	heat shock 27kDa protein 2	42					positive regulation of catalytic activity (GO:0043085)|response to unfolded protein (GO:0006986)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	enzyme activator activity (GO:0008047)			large_intestine(2)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10		all_cancers(61;3.75e-11)|all_epithelial(67;2.33e-06)|Melanoma(852;9.42e-06)|all_hematologic(158;0.000885)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0512)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)		Epithelial(105;3.57e-07)|BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|all cancers(92;6.57e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.051)		TGACCCCCACACTCTACCATG	0.637																																						ENST00000304298.3																			0				large_intestine(2)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10						c.(124-126)acA>acG		heat shock 27kDa protein 2							158	168	165					11																	111784196		2201	4297	6498	SO:0001819	synonymous_variant	3316				response to heat|response to unfolded protein	cytosol|nucleus	enzyme activator activity|protein binding	g.chr11:111784196A>G	U75898	CCDS8352.1	11q22-q23	2011-09-02	2002-08-29			ENSG00000170276		"Heat shock proteins / HSPB"	5247	protein-coding gene	gene with protein product		602179	"heat shock 27kD protein 2"			9344664, 9490724	Standard	NM_001541		Approved	Hs.78846, MKBP	uc001pmg.2	Q16082		ENST00000304298.3:c.126A>G	11.37:g.111784196A>G						CRYAB_ENST00000527950.1_Intron|HSPB2_ENST00000537382.1_Silent_p.T42T|HSPB2-C11orf52_ENST00000534100.1_Intron|CRYAB_ENST00000533475.1_Intron	p.T42T	NM_001541.3	NP_001532.1	Q16082	HSPB2_HUMAN		Epithelial(105;3.57e-07)|BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|all cancers(92;6.57e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.051)	2	714	+		all_cancers(61;3.75e-11)|all_epithelial(67;2.33e-06)|Melanoma(852;9.42e-06)|all_hematologic(158;0.000885)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0512)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)	42					Q6I9U7	Silent	SNP	ENST00000304298.3	37	c.126A>G	CCDS8352.1																																																																																				0.637	HSPB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391669.1			30	108	0	0	0	1	0	30	108					G	111784196	A	G	111784196	2	3	374	1	0	0	0	0	0	0	0	1	7420	146	6	4		4	HSPB2	11	111784196	Silent	SNP	A	TCGA-V1-A8MU-01A-11D-A377-08	36341928	111784196	23222320	22	18509											
MLL	4297	broad.mit.edu	37	chr11	118344075	118344076	+	Frame_Shift_Ins	INS	-	-	A																															tcttcaggagtatccaatagINSaaaaaggaaaagaaaagtgt																								rs11552439		TCGA-V1-A8MU-01A-11D-A377-08	TCGA-V1-A8MU-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	942a31bd-5417-43df-bc54-b74f9d8745ce	3f2fdbd9-19b0-41e2-87f3-ebc0f5fa5215	g.chr11:118344075_118344076insA	ENST00000389506.5	+	3	2201_2202	c.2201_2202insA	c.(2200-2205)agaaaafs	p.RK734fs	KMT2A_ENST00000534358.1_Frame_Shift_Ins_p.RK734fs|KMT2A_ENST00000354520.4_Frame_Shift_Ins_p.RK734fs			Q03164	KMT2A_HUMAN	lysine (K)-specific methyltransferase 2A	734					anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|DNA methylation (GO:0006306)|embryonic hemopoiesis (GO:0035162)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|histone H4-K16 acetylation (GO:0043984)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cellular response to drug (GO:2001040)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transporter activity (GO:0032411)|protein complex assembly (GO:0006461)|regulation of histone H3-K4 methylation (GO:0051569)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|histone methyltransferase complex (GO:0035097)|MLL1 complex (GO:0071339)|nucleus (GO:0005634)	AT DNA binding (GO:0003680)|chromatin binding (GO:0003682)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|identical protein binding (GO:0042802)|lysine-acetylated histone binding (GO:0070577)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|unmethylated CpG binding (GO:0045322)|zinc ion binding (GO:0008270)										GTATCCAATAGAAAAAGGAAAA	0.406																																						ENST00000534358.1																			0											c.(2200-2202)aaafs		lysine (K)-specific methyltransferase 2A																																				SO:0001589	frameshift_variant	4297							g.chr11:118344075_118344076insA	L04284	CCDS31686.1, CCDS55791.1	11q23	2014-09-17	2013-05-09	2013-05-09	ENSG00000118058	ENSG00000118058		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	7132	protein-coding gene	gene with protein product		159555	"myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog)", "myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila)"	MLL		1720549	Standard	NM_001197104		Approved	TRX1, HRX, ALL-1, HTRX1, CXXC7, MLL1A		Q03164	OTTHUMG00000166337	ENST00000389506.5:c.2206dupA	11.37:g.118344080_118344080dupA	ENSP00000374157:p.Arg734fs					KMT2A_ENST00000389506.5_Frame_Shift_Ins_p.K734fs|KMT2A_ENST00000354520.4_Frame_Shift_Ins_p.K734fs	p.K734fs	NM_001197104.1|NM_005933.3	NP_001184033.1|NP_005924.2					3	2224_2225	+								E9PQG7|Q13743|Q13744|Q14845|Q16364|Q59FF2|Q6UBD1|Q9HBJ3|Q9UD94|Q9UMA3	Frame_Shift_Ins	INS	ENST00000389506.5	37	c.2201_2202insA	CCDS31686.1																																																																																				0.406	KMT2A-015	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399085.2	NM_005933		14	47						14	47	---	---	---	---	A	118344076	-	A	118344075	7	5	374	1	0	1	1	0	0	0	0	0	9620	942	33	0	2211	0	MLL	11	118344075	Frame_Shift_Ins	INS	-	TCGA-V1-A8MU-01A-11D-A377-08	6559879	118344075	16662441	23	18510											
NAV3	89795	broad.mit.edu	37	chr12	78400952	78400952	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcaaaccatttcacctggcaGcacagcaagcaaagagtctg	14	6	9	12	0	2	1	1	0	1	1	2	1	2	1	2	1	4	5	2	1	3	1			TCGA-V1-A8MU-01A-11D-A377-08	TCGA-V1-A8MU-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	942a31bd-5417-43df-bc54-b74f9d8745ce	3f2fdbd9-19b0-41e2-87f3-ebc0f5fa5215	g.chr12:78400952G>A	ENST00000397909.2	+	8	1807	c.1634G>A	c.(1633-1635)aGc>aAc	p.S545N	NAV3_ENST00000228327.6_Missense_Mutation_p.S545N|NAV3_ENST00000266692.7_Missense_Mutation_p.S545N|NAV3_ENST00000536525.2_Missense_Mutation_p.S545N			Q8IVL0	NAV3_HUMAN	neuron navigator 3	545						membrane (GO:0016020)|nuclear envelope (GO:0005635)				NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						TCACCTGGCAGCACAGCAAGC	0.453										HNSCC(70;0.22)																												ENST00000397909.2																			0				NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						c.(1633-1635)aGc>aAc		neuron navigator 3							63	64	63					12																	78400952		1910	4126	6036	SO:0001583	missense	89795					nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity	g.chr12:78400952G>A	AB023155	CCDS41815.1, CCDS66432.1	12q14.3	2008-08-05				ENSG00000067798			15998	protein-coding gene	gene with protein product	"pore membrane and/or filament interacting like protein 1", "steerin 3"	611629				12079279, 12062803	Standard	XM_005269215		Approved	KIAA0938, POMFIL1	uc001syo.3	Q8IVL0	OTTHUMG00000170001	ENST00000397909.2:c.1634G>A	12.37:g.78400952G>A	ENSP00000381007:p.Ser545Asn	HNSCC(70;0.22)				NAV3_ENST00000266692.7_Missense_Mutation_p.S545N|NAV3_ENST00000536525.2_Missense_Mutation_p.S545N|NAV3_ENST00000228327.6_Missense_Mutation_p.S545N	p.S545N			Q8IVL0	NAV3_HUMAN			8	1807	+			545					Q8NFW7|Q9Y2E7	Missense_Mutation	SNP	ENST00000397909.2	37	c.1634G>A		.	.	.	.	.	.	.	.	.	.	G	3.783	-0.045209	0.07452	.	.	ENSG00000067798	ENST00000549464;ENST00000536525;ENST00000397909;ENST00000228327;ENST00000266692	T;T;T;T;T	0.13657	2.57;2.57;2.57;2.57;2.57	5.29	1.31	0.21738	.	0.491667	0.16815	N	0.198409	T	0.10508	0.0257	L	0.47716	1.5	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.06405	0.0;0.002	T	0.31024	-0.9958	10	0.29301	T	0.29	-2.762	5.3022	0.15783	0.3138:0.135:0.5513:0.0	.	545;545	Q8IVL0;Q8IVL0-2	NAV3_HUMAN;.	N	545	ENSP00000446628:S545N;ENSP00000446132:S545N;ENSP00000381007:S545N;ENSP00000228327:S545N;ENSP00000266692:S545N	ENSP00000228327:S545N	S	+	2	0	NAV3	76925083	0.000000	0.05858	0.003000	0.11579	0.986000	0.74619	0.261000	0.18442	-0.027000	0.13873	0.650000	0.86243	AGC		0.453	NAV3-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000406812.1	NM_001024383		3	32	0	0	0	1	0	3	32					A	78400952	G	A	78400952	3	1	374	1	0	0	0	0	1	0	0	0	10185	971	34	3	1664	3	NAV3	12	78400952	Missense_Mutation	SNP	G	TCGA-V1-A8MU-01A-11D-A377-08		78400952	55450943	24	18511											
IKBIP	121457	broad.mit.edu	37	chr12	99007629	99007635	+	Frame_Shift_Del	DEL	AGCTTAG	AGCTTAG	-																															tttggctctgtcaccttctaAgcttagaaatctatctgtat																										TCGA-V1-A8MU-01A-11D-A377-08	TCGA-V1-A8MU-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	942a31bd-5417-43df-bc54-b74f9d8745ce	3f2fdbd9-19b0-41e2-87f3-ebc0f5fa5215	g.chr12:99007629_99007635delAGCTTAG	ENST00000342502.2	-	3	1192_1198	c.781_787delCTAAGCT	c.(781-789)ctaagcttafs	p.LSL261fs	IKBIP_ENST00000420861.1_Frame_Shift_Del_p.LSL155fs|IKBIP_ENST00000393042.3_3'UTR	NM_201612.2	NP_963906.1	Q70UQ0	IKIP_HUMAN	IKBKB interacting protein	261					response to X-ray (GO:0010165)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				NS(1)|kidney(1)|large_intestine(1)|lung(1)|prostate(2)	6						TCACCTTCTAAGCTTAGAAATCTATCT	0.377																																						ENST00000342502.2																			0				NS(1)|kidney(1)|large_intestine(1)|lung(1)|prostate(2)	6						c.(781-789)tafs		IKBKB interacting protein																																				SO:0001589	frameshift_variant	121457				induction of apoptosis|response to X-ray	endoplasmic reticulum membrane|integral to membrane	protein binding	g.chr12:99007629_99007635delAGCTTAG	AJ539425	CCDS9067.1, CCDS9068.1, CCDS41822.1	12q23.1	2010-02-17			ENSG00000166130	ENSG00000166130			26430	protein-coding gene	gene with protein product	"I kappa B kinase interacting protein"	609861				15389287	Standard	NM_153687		Approved	FLJ31051, IKIP	uc001tfx.4	Q70UQ0	OTTHUMG00000170213	ENST00000342502.2:c.781_787delCTAAGCT	12.37:g.99007629_99007635delAGCTTAG	ENSP00000343471:p.Leu261fs					IKBIP_ENST00000393042.3_3'UTR|IKBIP_ENST00000420861.1_Frame_Shift_Del_p.LSL155fs	p.LSL261fs	NM_201612.2	NP_963906.1	Q70UQ0	IKIP_HUMAN			3	1192_1198	-			261					Q6ZWH4|Q70UP9|Q86V91|Q96ND2	Frame_Shift_Del	DEL	ENST00000342502.2	37	c.781_787delCTAAGCT	CCDS9067.1																																																																																				0.377	IKBIP-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000408003.2	NM_153687		17	47						17	47	---	---	---	---	-	99007635	AGCTTAG	-	99007629	7	5	374	1	0	1	0	1	0	0	0	0	7609	69	3	0	269	0	IKBIP	12	99007629	Frame_Shift_Del	DEL	AGCTTAG	TCGA-V1-A8MU-01A-11D-A377-08	20606677	99007629	34844266	25	18512											
OR4K2	390431	broad.mit.edu	37	chr14	20344905	20344905	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatgcattcaatgagtcaggTcatatttgccctcacgttac	10	14	7	10	1	4	1	4	1	0	0	4	1	4	1	1	1	3	2	1	1	4	5			TCGA-V1-A8MU-01A-11D-A377-08	TCGA-V1-A8MU-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	942a31bd-5417-43df-bc54-b74f9d8745ce	3f2fdbd9-19b0-41e2-87f3-ebc0f5fa5215	g.chr14:20344905T>G	ENST00000298642.2	+	1	515	c.479T>G	c.(478-480)gTc>gGc	p.V160G		NM_001005501.1	NP_001005501.1	Q8NGD2	OR4K2_HUMAN	olfactory receptor, family 4, subfamily K, member 2	160						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(16)|ovary(2)|skin(9)|upper_aerodigestive_tract(2)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		ATGAGTCAGGTCATATTTGCC	0.483																																						ENST00000298642.2																			0				NS(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(16)|ovary(2)|skin(9)|upper_aerodigestive_tract(2)	43						c.(478-480)gTc>gGc		olfactory receptor, family 4, subfamily K, member 2							391	379	383					14																	20344905		2203	4300	6503	SO:0001583	missense	390431				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20344905T>G		CCDS32023.1	14q11.2	2013-09-23			ENSG00000165762	ENSG00000165762		"GPCR / Class A : Olfactory receptors"	14728	protein-coding gene	gene with protein product							Standard	NM_001005501		Approved		uc001vwh.1	Q8NGD2	OTTHUMG00000170624	ENST00000298642.2:c.479T>G	14.37:g.20344905T>G	ENSP00000298642:p.Val160Gly						p.V160G	NM_001005501.1	NP_001005501.1	Q8NGD2	OR4K2_HUMAN	Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)	1	515	+	all_cancers(95;0.00108)		160					B2RNK8|Q6IFA5	Missense_Mutation	SNP	ENST00000298642.2	37	c.479T>G	CCDS32023.1	.	.	.	.	.	.	.	.	.	.	.	15.48	2.844643	0.51164	.	.	ENSG00000165762	ENST00000298642	T	0.00207	8.55	5.12	5.12	0.69794	GPCR, rhodopsin-like superfamily (1);	0.152787	0.30177	N	0.010234	T	0.00412	0.0013	M	0.74647	2.275	0.25018	N	0.991354	D	0.59357	0.985	P	0.62560	0.904	T	0.44832	-0.9302	10	0.87932	D	0	.	7.5106	0.27571	0.0:0.094:0.0:0.906	.	160	Q8NGD2	OR4K2_HUMAN	G	160	ENSP00000298642:V160G	ENSP00000298642:V160G	V	+	2	0	OR4K2	19414745	0.034000	0.19679	1.000000	0.80357	0.878000	0.50629	1.460000	0.35244	2.148000	0.66965	0.460000	0.39030	GTC		0.483	OR4K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409864.1			50	237	0	0	0	1	0	50	237					G	20344905	T	G	20344905	3	3	374	1	0	0	0	0	1	0	0	0	11072	1667	58	5	481	5	OR4K2	14	20344905	Missense_Mutation	SNP	T	TCGA-V1-A8MU-01A-11D-A377-08		20344905	87004635	26	18513											
ITGAX	3687	broad.mit.edu	37	chr16	31382413	31382413	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcctctggccagcggatcgcGggctcccagctctcctccag	4	8	11	18	3	2	0	0	0	2	0	7	1	5	1	5	3	2	2	5	3	0	0			TCGA-V1-A8MU-01A-11D-A377-08	TCGA-V1-A8MU-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	942a31bd-5417-43df-bc54-b74f9d8745ce	3f2fdbd9-19b0-41e2-87f3-ebc0f5fa5215	g.chr16:31382413G>A	ENST00000268296.4	+	15	1840	c.1719G>A	c.(1717-1719)gcG>gcA	p.A573A	ITGAX_ENST00000562522.1_Silent_p.A573A	NM_000887.3	NP_000878.2	P20702	ITAX_HUMAN	integrin, alpha X (complement component 3 receptor 4 subunit)	573					blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|organ morphogenesis (GO:0009887)	cell surface (GO:0009986)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|receptor activity (GO:0004872)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	77						AGCGGATCGCGGGCTCCCAGC	0.582																																						ENST00000268296.4																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	77						c.(1717-1719)gcG>gcA		integrin, alpha X (complement component 3 receptor 4 subunit)							77	86	83					16																	31382413		2197	4300	6497	SO:0001819	synonymous_variant	3687				blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis	integrin complex	protein binding|receptor activity	g.chr16:31382413G>A	BC038237	CCDS10711.1, CCDS67014.1	16p11.2	2010-03-23	2006-02-10		ENSG00000140678	ENSG00000140678		"CD molecules", "Complement system", "Integrins"	6152	protein-coding gene	gene with protein product		151510	"integrin, alpha X (antigen CD11C (p150), alpha polypeptide)"	CD11C		3284962, 2303426	Standard	NM_001286375		Approved	CD11c	uc002ebu.1	P20702	OTTHUMG00000132465	ENST00000268296.4:c.1719G>A	16.37:g.31382413G>A						ITGAX_ENST00000562522.1_Silent_p.A573A	p.A573A	NM_000887.3	NP_000878.2	P20702	ITAX_HUMAN			15	1840	+			573					Q8IVA6	Silent	SNP	ENST00000268296.4	37	c.1719G>A	CCDS10711.1																																																																																				0.582	ITGAX-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000255628.2	NM_000887		14	50	0	0	0	1	0	14	50					A	31382413	G	A	31382413	2	1	374	1	0	0	0	0	0	0	0	1	7889	1103	39	2		2	ITGAX	16	31382413	Silent	SNP	G	TCGA-V1-A8MU-01A-11D-A377-08		31382413	58972340	27	18514											
CTCF	10664	broad.mit.edu	37	chr16	67645414	67645414	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	atgtagatgtgtctgtctacGattttgaggaagaacagcag	12	12	12	5	1	2	3	0	1	2	2	2	5	2	4	0	1	3	2	0	1	4	4			TCGA-V1-A8MU-01A-11D-A377-08	TCGA-V1-A8MU-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	942a31bd-5417-43df-bc54-b74f9d8745ce	3f2fdbd9-19b0-41e2-87f3-ebc0f5fa5215	g.chr16:67645414G>C	ENST00000264010.4	+	3	1123	c.679G>C	c.(679-681)Gat>Cat	p.D227H	AC009095.4_ENST00000388909.4_RNA|CTCF_ENST00000401394.1_Intron	NM_006565.3	NP_006556.1	P49711	CTCF_HUMAN	CCCTC-binding factor (zinc finger protein)	227					chromatin modification (GO:0016568)|chromosome segregation (GO:0007059)|DNA methylation (GO:0006306)|maintenance of DNA methylation (GO:0010216)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome positioning (GO:0016584)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of centromeric sister chromatid cohesion (GO:0070602)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of gene expression, epigenetic (GO:0040029)|regulation of histone acetylation (GO:0035065)|regulation of histone methylation (GO:0031060)|regulation of molecular function, epigenetic (GO:0040030)	chromosome, centromeric region (GO:0000775)|condensed chromosome (GO:0000793)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin insulator sequence binding (GO:0043035)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			breast(6)|central_nervous_system(2)|cervix(1)|endometrium(34)|haematopoietic_and_lymphoid_tissue(7)|kidney(3)|large_intestine(9)|liver(1)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	79		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0166)|Epithelial(162;0.0577)		GTCTGTCTACGATTTTGAGGA	0.413																																					Colon(175;1200 1966 6945 23069 27405)	ENST00000264010.4																			0				breast(6)|central_nervous_system(2)|cervix(1)|endometrium(34)|haematopoietic_and_lymphoid_tissue(7)|kidney(3)|large_intestine(9)|liver(1)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	79						c.(679-681)Gat>Cat		CCCTC-binding factor (zinc finger protein)							106	107	107					16																	67645414		2197	4300	6497	SO:0001583	missense	10664				chromatin modification|chromosome segregation|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|regulation of centromeric sister chromatid cohesion|regulation of molecular function, epigenetic	chromosome, centromeric region|condensed chromosome|nucleolus|nucleoplasm	chromatin insulator sequence binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr16:67645414G>C	U25435	CCDS10841.1, CCDS54029.1	16q21-q22.3	2013-01-08			ENSG00000102974	ENSG00000102974		"Zinc fingers, C2H2-type"	13723	protein-coding gene	gene with protein product	"11 zinc finger transcriptional repressor"	604167				8649389, 18550811	Standard	NM_006565		Approved		uc002etl.3	P49711	OTTHUMG00000137539	ENST00000264010.4:c.679G>C	16.37:g.67645414G>C	ENSP00000264010:p.Asp227His					CTCF_ENST00000401394.1_Intron	p.D227H	NM_006565.3	NP_006556.1	P49711	CTCF_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0166)|Epithelial(162;0.0577)	3	1123	+		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)	227					B5MC38|Q53XI7|Q59EL8	Missense_Mutation	SNP	ENST00000264010.4	37	c.679G>C	CCDS10841.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.043672	0.75732	.	.	ENSG00000102974	ENST00000264010	T	0.09723	2.95	5.5	5.5	0.81552	.	0.000000	0.64402	D	0.000001	T	0.21062	0.0507	N	0.19112	0.55	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.04140	-1.0974	10	0.30078	T	0.28	-4.1407	19.5916	0.95514	0.0:0.0:1.0:0.0	.	227	P49711	CTCF_HUMAN	H	227	ENSP00000264010:D227H	ENSP00000264010:D227H	D	+	1	0	CTCF	66202915	1.000000	0.71417	0.954000	0.39281	0.970000	0.65996	9.411000	0.97342	2.861000	0.98227	0.655000	0.94253	GAT		0.413	CTCF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268870.2	NM_006565		13	38	0	0	0	1	0	13	38					C	67645414	G	C	67645414	3	2	374	1	0	0	0	0	1	0	0	0	4000	1058	37	5	681	5	CTCF	16	67645414	Missense_Mutation	SNP	G	TCGA-V1-A8MU-01A-11D-A377-08	36263001	67645414	22709339	28	18515											
LLGL1	3996	broad.mit.edu	37	chr17	18138412	18138413	+	Frame_Shift_Ins	INS	-	-	C																															cgtcccacagaatttgatgaINScccccaggccctggctgtgc																								rs572830833		TCGA-V1-A8MU-01A-11D-A377-08	TCGA-V1-A8MU-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	942a31bd-5417-43df-bc54-b74f9d8745ce	3f2fdbd9-19b0-41e2-87f3-ebc0f5fa5215	g.chr17:18138412_18138413insC	ENST00000316843.4	+	10	1166_1167	c.1070_1071insC	c.(1069-1074)gaccccfs	p.DP357fs		NM_004140.3	NP_004131	Q15334	L2GL1_HUMAN	lethal giant larvae homolog 1 (Drosophila)	357					axonogenesis (GO:0007409)|cortical actin cytoskeleton organization (GO:0030866)|exocytosis (GO:0006887)|Golgi to plasma membrane transport (GO:0006893)|maintenance of apical/basal cell polarity (GO:0035090)|positive regulation of Rab GTPase activity (GO:0032851)|protein complex assembly (GO:0006461)	cell projection (GO:0042995)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|early endosome membrane (GO:0031901)|Golgi cis cisterna (GO:0000137)|myelin sheath abaxonal region (GO:0035748)|trans-Golgi network membrane (GO:0032588)	protein kinase binding (GO:0019901)|Rab GTPase activator activity (GO:0005097)|structural molecule activity (GO:0005198)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21	all_neural(463;0.228)					GAATTTGATGACCCCCAGGCCC	0.658																																						ENST00000316843.4																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21						c.(1069-1071)gccfs		lethal giant larvae homolog 1 (Drosophila)																																				SO:0001589	frameshift_variant	3996				cortical actin cytoskeleton organization|exocytosis|protein complex assembly	cortical actin cytoskeleton	protein kinase binding|structural molecule activity	g.chr17:18138412_18138413insC		CCDS32586.1	17p11.2	2013-01-10	2001-11-28		ENSG00000131899	ENSG00000131899		"WD repeat domain containing"	6628	protein-coding gene	gene with protein product		600966	"lethal giant larvae (Drosophila) homolog 1"	DLG4, LLGL, HUGL, HUGL-1		7542763, 8565641	Standard	XM_005256643		Approved		uc002gsp.3	Q15334	OTTHUMG00000059396	ENST00000316843.4:c.1075dupC	17.37:g.18138417_18138417dupC	ENSP00000321537:p.Asp357fs						p.A357fs	NM_004140.3	NP_004131.3	Q15334	L2GL1_HUMAN			10	1166_1167	+	all_neural(463;0.228)		357					A7MBM7|O00188|Q58F11|Q86UK6	Frame_Shift_Ins	INS	ENST00000316843.4	37	c.1070_1071insC	CCDS32586.1																																																																																				0.658	LLGL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132067.3			16	26						16	26	---	---	---	---	C	18138413	-	C	18138412	7	5	374	1	0	1	1	0	0	0	0	0	8833	275	10	0	1108	0	LLGL1	17	18138412	Frame_Shift_Ins	INS	-	TCGA-V1-A8MU-01A-11D-A377-08		18138412	63056798	29	18516											
ERN1	2081	broad.mit.edu	37	chr17	62207360	62207362	+	In_Frame_Del	DEL	CAG	CAG	-																															aggccgggcagcagcagcgtCagcagcagcagcagccgccg																										TCGA-V1-A8MU-01A-11D-A377-08	TCGA-V1-A8MU-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	942a31bd-5417-43df-bc54-b74f9d8745ce	3f2fdbd9-19b0-41e2-87f3-ebc0f5fa5215	g.chr17:62207360_62207362delCAG	ENST00000433197.3	-	1	123_125	c.28_30delCTG	c.(28-30)ctgdel	p.L10del	ERN1_ENST00000606895.1_In_Frame_Del_p.L10del	NM_001433.3	NP_001424.3			endoplasmic reticulum to nucleus signaling 1											central_nervous_system(4)|kidney(1)|lung(2)|ovary(1)|stomach(1)	9						gcagcagcgtcagcagcagcagc	0.793																																						ENST00000433197.2																			0				central_nervous_system(4)|kidney(1)|lung(2)|ovary(1)|stomach(1)	9						c.(28-30)del		endoplasmic reticulum to nucleus signaling 1				5,14,1499		2,0,1,3,8,745						2.7	1			2	0,38,3992		0,0,0,6,26,1983	no	codingComplex	ERN1	NM_001433.3		2,0,1,9,34,2728	A1A1,A1A2,A1R,A2A2,A2R,RR		0.9429,1.2516,1.0274				5,52,5491				SO:0001651	inframe_deletion	2081				activation of signaling protein activity involved in unfolded protein response|apoptosis|cell cycle arrest|induction of apoptosis|mRNA processing|regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to endoplasmic reticulum membrane	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein binding|protein serine/threonine kinase activity	g.chr17:62207360_62207362delCAG	AF059198	CCDS45762.1	17q23	2011-08-12	2007-08-14			ENSG00000178607			3449	protein-coding gene	gene with protein product	"inositol-requiring enzyme 1"	604033	"ER to nucleus signalling 1"			9637683	Standard	NM_001433		Approved	IRE1, IRE1P	uc002jdz.2	O75460		ENST00000433197.3:c.28_30delCTG	17.37:g.62207369_62207371delCAG	ENSP00000401445:p.Leu10del					ERN1_ENST00000606895.1_In_Frame_Del_p.L10del	p.L10del	NM_001433.3	NP_001424.3	O75460	ERN1_HUMAN			1	123_125	-			10						In_Frame_Del	DEL	ENST00000433197.3	37	c.28_30delCTG	CCDS45762.1																																																																																				0.793	ERN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443734.2	NM_001433		2	4						2	4	---	---	---	---	-	62207362	CAG	-	62207360	7	5	374	1	0	1	0	1	0	0	0	0	5237	813	29	0	2991	0	ERN1	17	62207360	In_Frame_Del	DEL	CAG	TCGA-V1-A8MU-01A-11D-A377-08	44068948	62207360	18987850	30	18517											
DNAH17	8632	broad.mit.edu	37	chr17	76482396	76482396	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgggggagtcggggggcacGgtcttctccgtgagcaggca	5	7	19	10	3	2	1	0	1	2	0	4	2	2	2	1	7	1	3	1	7	0	1			TCGA-V1-A8MU-01A-11D-A377-08	TCGA-V1-A8MU-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	942a31bd-5417-43df-bc54-b74f9d8745ce	3f2fdbd9-19b0-41e2-87f3-ebc0f5fa5215	g.chr17:76482396G>A	ENST00000585328.1	-	45	7120	c.6996C>T	c.(6994-6996)acC>acT	p.T2332T	DNAH17_ENST00000389840.5_Silent_p.T2323T|RP11-559N14.5_ENST00000588565.1_RNA|DNAH17_ENST00000586052.1_5'UTR|RP11-559N14.5_ENST00000585969.1_RNA	NM_173628.3	NP_775899.3	Q9UFH2	DYH17_HUMAN	dynein, axonemal, heavy chain 17	2323					cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			CGGGGGGCACGGTCTTCTCCG	0.592																																						ENST00000389840.5																			0				NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116						c.(6967-6969)acC>acT		dynein, axonemal, heavy chain 17							56	62	60					17																	76482396		2144	4247	6391	SO:0001819	synonymous_variant	8632							g.chr17:76482396G>A	AJ000522		17q25.3	2012-04-19	2006-09-04		ENSG00000187775	ENSG00000187775		"Axonemal dyneins"	2946	protein-coding gene	gene with protein product		610063	"dynein, axonemal, heavy polypeptide 17", "dynein, axonemal, heavy chain like 1", "dynein, axonemal, heavy like 1"	DNAHL1		9545504	Standard	NM_173628		Approved	DNEL2, FLJ40457	uc010dhp.2	Q9UFH2		ENST00000585328.1:c.6996C>T	17.37:g.76482396G>A						DNAH17_ENST00000586052.1_5'UTR|RP11-559N14.5_ENST00000585969.1_RNA|DNAH17_ENST00000585328.1_Silent_p.T2332T	p.T2323T					BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)		45	7093	-								O00431|O15206|Q2M2Y1|Q6ZRQ2|Q8N7Q7	Silent	SNP	ENST00000585328.1	37	c.6969C>T																																																																																					0.592	DNAH17-001	PUTATIVE	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000318962.2	NM_173628		6	41	0	0	0	1	0	6	41					A	76482396	G	A	76482396	2	1	374	1	0	0	0	0	0	0	0	1	4601	1103	39	2		2	DNAH17	17	76482396	Silent	SNP	G	TCGA-V1-A8MU-01A-11D-A377-08	14275036	76482396	4712814	31	18518											
ZNF536	9745	broad.mit.edu	37	chr19	31038939	31038939	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tagagcgacaccatcgggagCggcagaacggggctgggccg	9	3	18	11	5	0	2	0	0	0	2	1	4	0	3	2	5	3	2	2	5	2	1			TCGA-V1-A8MU-01A-11D-A377-08	TCGA-V1-A8MU-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	942a31bd-5417-43df-bc54-b74f9d8745ce	3f2fdbd9-19b0-41e2-87f3-ebc0f5fa5215	g.chr19:31038939C>T	ENST00000355537.3	+	4	2560	c.2413C>T	c.(2413-2415)Cgg>Tgg	p.R805W		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	805					negative regulation of neuron differentiation (GO:0045665)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|retinoic acid-responsive element binding (GO:0044323)			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					CCATCGGGAGCGGCAGAACGG	0.537																																						ENST00000355537.3																			0				NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182						c.(2413-2415)Cgg>Tgg		zinc finger protein 536							67	73	71					19																	31038939		2203	4300	6503	SO:0001583	missense	9745				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	g.chr19:31038939C>T		CCDS32984.1	19q13.11	2013-01-08				ENSG00000198597		"Zinc fingers, C2H2-type"	29025	protein-coding gene	gene with protein product						9205841	Standard	XM_005259445		Approved	KIAA0390	uc002nsu.1	O15090		ENST00000355537.3:c.2413C>T	19.37:g.31038939C>T	ENSP00000347730:p.Arg805Trp						p.R805W	NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN			4	2560	+	Esophageal squamous(110;0.0834)		805					A2RU18	Missense_Mutation	SNP	ENST00000355537.3	37	c.2413C>T	CCDS32984.1	.	.	.	.	.	.	.	.	.	.	C	13.31	2.200011	0.38905	.	.	ENSG00000198597	ENST00000355537	T	0.08984	3.03	5.98	2.55	0.30701	Zinc finger, C2H2 (1);	0.000000	0.85682	D	0.000000	T	0.17789	0.0427	L	0.32530	0.975	0.45172	D	0.998183	D;D	0.89917	1.0;1.0	D;D	0.65987	0.94;0.94	T	0.00617	-1.1642	10	0.87932	D	0	-19.5882	15.7677	0.78141	0.5855:0.4145:0.0:0.0	.	805;805	A7E228;O15090	.;ZN536_HUMAN	W	805	ENSP00000347730:R805W	ENSP00000347730:R805W	R	+	1	2	ZNF536	35730779	1.000000	0.71417	0.993000	0.49108	0.690000	0.40134	2.364000	0.44187	0.364000	0.24374	0.591000	0.81541	CGG		0.537	ZNF536-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459667.2	NM_014717		8	33	0	0	0	1	0	8	33					T	31038939	C	T	31038939	3	4	374	1	0	0	0	0	1	0	0	0	17971	759	27	1	2423	1	ZNF536	19	31038939	Missense_Mutation	SNP	C	TCGA-V1-A8MU-01A-11D-A377-08		31038939	28090044	32	18519											
SEC23B	10483	broad.mit.edu	37	chr20	18496338	18496338	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgaggtgaatcaacctgcCgaattgatgccccagttttc	9	12	9	11	1	2	3	1	3	1	0	3	4	2	3	4	1	3	1	4	1	3	3			TCGA-V1-A8MU-01A-11D-A377-08	TCGA-V1-A8MU-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	942a31bd-5417-43df-bc54-b74f9d8745ce	3f2fdbd9-19b0-41e2-87f3-ebc0f5fa5215	g.chr20:18496338C>T	ENST00000336714.3	+	4	756	c.324C>T	c.(322-324)gcC>gcT	p.A108A	SEC23B_ENST00000494645.1_3'UTR|SEC23B_ENST00000377465.1_Silent_p.A108A|SEC23B_ENST00000262544.2_Silent_p.A108A|SEC23B_ENST00000377475.3_Silent_p.A108A	NM_006363.4|NM_032985.4|NM_032986.3	NP_006354.2|NP_116780.1|NP_116781.1	Q15437	SC23B_HUMAN	Sec23 homolog B (S. cerevisiae)	108					ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	COPII vesicle coat (GO:0030127)|endomembrane system (GO:0012505)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	32						ATCAACCTGCCGAATTGATGC	0.348																																						ENST00000336714.3																			0				breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	32						c.(322-324)gcC>gcT		Sec23 homolog B (S. cerevisiae)							171	126	141					20																	18496338		2203	4300	6503	SO:0001819	synonymous_variant	10483				ER to Golgi vesicle-mediated transport|intracellular protein transport	COPII vesicle coat|endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane	zinc ion binding	g.chr20:18496338C>T	X97065	CCDS13137.1	20p11.23	2010-02-09	2001-11-28		ENSG00000101310	ENSG00000101310			10702	protein-coding gene	gene with protein product		610512	"Sec23 (S. cerevisiae) homolog B", "congenital dyserythropoietic anemia, type II"	CDAN2		8898360, 10329445, 19621418	Standard	NM_032985		Approved	CDA-II, CDAII, HEMPAS	uc002wrb.2	Q15437	OTTHUMG00000031976	ENST00000336714.3:c.324C>T	20.37:g.18496338C>T						SEC23B_ENST00000494645.1_3'UTR|SEC23B_ENST00000262544.2_Silent_p.A108A|SEC23B_ENST00000377475.3_Silent_p.A108A|SEC23B_ENST00000377465.1_Silent_p.A108A	p.A108A	NM_006363.4|NM_032985.4|NM_032986.3	NP_006354.2|NP_116780.1|NP_116781.1	Q15437	SC23B_HUMAN			4	756	+			108					D3DW33|Q503A9|Q5W183|Q9BS15|Q9BSI2|Q9H1D7	Silent	SNP	ENST00000336714.3	37	c.324C>T	CCDS13137.1																																																																																				0.348	SEC23B-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078184.5			17	82	0	0	0	1	0	17	82					T	18496338	C	T	18496338	2	4	374	1	0	0	0	0	0	0	0	1	13992	639	23	2		2	SEC23B	20	18496338	Silent	SNP	C	TCGA-V1-A8MU-01A-11D-A377-08		18496338	44529182	33	18520											
KCNB1	3745	broad.mit.edu	37	chr20	48098528	48098528	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctctgcgcagcacgtgttatCgaactcctcgccttcccgct	5	11	8	17	5	1	0	0	0	1	0	5	1	3	0	3	0	3	4	3	0	2	2			TCGA-V1-A8MU-01A-11D-A377-08	TCGA-V1-A8MU-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	942a31bd-5417-43df-bc54-b74f9d8745ce	3f2fdbd9-19b0-41e2-87f3-ebc0f5fa5215	g.chr20:48098528C>T	ENST00000371741.4	-	1	656	c.490G>A	c.(490-492)Gat>Aat	p.D164N		NM_004975.2	NP_004966.1	Q14721	KCNB1_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 1	164					energy reserve metabolic process (GO:0006112)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|dendrite membrane (GO:0032590)|neuronal cell body membrane (GO:0032809)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|outward rectifier potassium channel activity (GO:0015271)			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1)	53			BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		Dalfampridine(DB06637)	CACGTGTTATCGAACTCCTCG	0.592																																						ENST00000371741.4																			0				central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1)	53						c.(490-492)Gat>Aat		potassium voltage-gated channel, Shab-related subfamily, member 1							188	158	168					20																	48098528		2203	4300	6503	SO:0001583	missense	3745				energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity	g.chr20:48098528C>T	AF026005	CCDS13418.1	20q13.2	2012-07-05			ENSG00000158445	ENSG00000158445		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6231	protein-coding gene	gene with protein product		600397				7774931, 16382104	Standard	NM_004975		Approved	Kv2.1	uc002xur.1	Q14721	OTTHUMG00000033051	ENST00000371741.4:c.490G>A	20.37:g.48098528C>T	ENSP00000360806:p.Asp164Asn						p.D164N	NM_004975.2	NP_004966.1	Q14721	KCNB1_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		1	656	-			164					Q14193	Missense_Mutation	SNP	ENST00000371741.4	37	c.490G>A	CCDS13418.1	.	.	.	.	.	.	.	.	.	.	C	18.72	3.683700	0.68157	.	.	ENSG00000158445	ENST00000371741;ENST00000538812	D	0.96619	-4.07	5.15	5.15	0.70609	.	0.109655	0.64402	D	0.000018	D	0.96821	0.8962	L	0.59436	1.845	0.54753	D	0.999988	D	0.61080	0.989	P	0.55055	0.767	D	0.96807	0.9594	10	0.54805	T	0.06	.	18.4287	0.90618	0.0:1.0:0.0:0.0	.	164	Q14721	KCNB1_HUMAN	N	164;119	ENSP00000360806:D164N	ENSP00000360806:D164N	D	-	1	0	KCNB1	47531935	1.000000	0.71417	0.998000	0.56505	0.561000	0.35649	5.780000	0.68956	2.676000	0.91093	0.563000	0.77884	GAT		0.592	KCNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080374.3	NM_004975		12	51	0	0	0	1	0	12	51					T	48098528	C	T	48098528	3	4	374	1	0	0	0	0	1	0	0	0	8012	884	31	2	2094	2	KCNB1	20	48098528	Missense_Mutation	SNP	C	TCGA-V1-A8MU-01A-11D-A377-08	29602190	48098528	14926992	34	18521											
CYP2J2	1573	broad.mit.edu	37	chr1	60377936	60377936	+	Frame_Shift_Del	DEL	T	T	-																															gttccttagtgctgtcagagTgaaccttctttgctccttcc																										TCGA-V1-A8WL-01A-11D-A377-08	TCGA-V1-A8WL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aca1a7-bdad-4b88-88b7-6c6f7bd62490	ea6da482-f7f1-4a1a-8380-b96418427d42	g.chr1:60377936delT	ENST00000371204.3	-	3	464	c.421delA	c.(421-423)actfs	p.T141fs	CYP2J2_ENST00000492633.1_5'UTR	NM_000775.2	NP_000766.2	P51589	CP2J2_HUMAN	cytochrome P450, family 2, subfamily J, polypeptide 2	141					arachidonic acid metabolic process (GO:0019369)|epoxygenase P450 pathway (GO:0019373)|icosanoid metabolic process (GO:0006690)|linoleic acid metabolic process (GO:0043651)|regulation of heart contraction (GO:0008016)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	arachidonic acid 11,12-epoxygenase activity (GO:0008405)|arachidonic acid 14,15-epoxygenase activity (GO:0008404)|arachidonic acid epoxygenase activity (GO:0008392)|aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|linoleic acid epoxygenase activity (GO:0071614)			NS(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|skin(1)	26	all_cancers(7;0.000396)				Apixaban(DB06605)|Astemizole(DB00637)|Cholecalciferol(DB00169)|Levomilnacipran(DB08918)|Masoprocol(DB00179)|Rivaroxaban(DB06228)	GCTGTCAGAGTGAACCTTCTT	0.418																																						ENST00000371204.3																			0				NS(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|skin(1)	26						c.(421-423)ctfs		cytochrome P450, family 2, subfamily J, polypeptide 2							200	169	179					1																	60377936		2203	4300	6503	SO:0001589	frameshift_variant	1573				epoxygenase P450 pathway|linoleic acid metabolic process|regulation of heart contraction|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	arachidonic acid 11,12-epoxygenase activity|arachidonic acid 14,15-epoxygenase activity|aromatase activity|electron carrier activity|heme binding|linoleic acid epoxygenase activity	g.chr1:60377936delT	BC032594	CCDS613.1	1p31.3-p31.2	2008-02-05	2003-01-14		ENSG00000134716	ENSG00000134716		"Cytochrome P450s"	2634	protein-coding gene	gene with protein product		601258	"cytochrome P450, subfamily IIJ (arachidonic acid epoxygenase) polypeptide 2"			9570962	Standard	NM_000775		Approved		uc001czq.3	P51589	OTTHUMG00000008991	ENST00000371204.3:c.421delA	1.37:g.60377936delT	ENSP00000360247:p.Thr141fs					CYP2J2_ENST00000492633.1_5'UTR	p.T141fs	NM_000775.2	NP_000766.2	P51589	CP2J2_HUMAN			3	464	-	all_cancers(7;0.000396)		141					B2RD33|Q8TF13	Frame_Shift_Del	DEL	ENST00000371204.3	37	c.421delA	CCDS613.1																																																																																				0.418	CYP2J2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024940.1	NM_000775		9	124						9	124	---	---	---	---	-	60377936	T	-	60377936	7	5	375	1	0	1	0	1	0	0	0	0	4172	1696	59	0	1115	0	CYP2J2	1	60377936	Frame_Shift_Del	DEL	T	TCGA-V1-A8WL-01A-11D-A377-08		60377936	188872685	1	18522											
FLG2	388698	broad.mit.edu	37	chr1	152328894	152328894	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gattgacttgatgtagactcAtgctggccacaagtttgacc	10	12	10	9	0	1	4	1	3	0	1	1	5	1	4	2	1	1	3	2	1	2	4			TCGA-V1-A8WL-01A-11D-A377-08	TCGA-V1-A8WL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aca1a7-bdad-4b88-88b7-6c6f7bd62490	ea6da482-f7f1-4a1a-8380-b96418427d42	g.chr1:152328894A>T	ENST00000388718.5	-	3	1440	c.1368T>A	c.(1366-1368)caT>caA	p.H456Q	FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	456	Ser-rich.				establishment of skin barrier (GO:0061436)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ATGTAGACTCATGCTGGCCAC	0.493																																						ENST00000388718.5																			0				NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188						c.(1366-1368)caT>caA		filaggrin family member 2							188	181	183					1																	152328894		2203	4300	6503	SO:0001583	missense	388698						calcium ion binding|structural molecule activity	g.chr1:152328894A>T	AY827490	CCDS30861.1	1q21.3	2013-01-10			ENSG00000143520	ENSG00000143520		"EF-hand domain containing"	33276	protein-coding gene	gene with protein product						12477932	Standard	NM_001014342		Approved	IFPS	uc001ezw.4	Q5D862	OTTHUMG00000012245	ENST00000388718.5:c.1368T>A	1.37:g.152328894A>T	ENSP00000373370:p.His456Gln					FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	p.H456Q	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	1440	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		456			Ser-rich.		Q9H4U1	Missense_Mutation	SNP	ENST00000388718.5	37	c.1368T>A	CCDS30861.1	.	.	.	.	.	.	.	.	.	.	A	9.785	1.176370	0.21704	.	.	ENSG00000143520	ENST00000388718	T	0.26518	1.73	3.36	-2.0	0.07433	.	.	.	.	.	T	0.05044	0.0135	L	0.46157	1.445	0.09310	N	1	B	0.34290	0.447	B	0.29440	0.102	T	0.38134	-0.9675	9	0.13470	T	0.59	.	5.5191	0.16923	0.3277:0.5125:0.1597:0.0	.	456	Q5D862	FILA2_HUMAN	Q	456	ENSP00000373370:H456Q	ENSP00000373370:H456Q	H	-	3	2	FLG2	150595518	0.000000	0.05858	0.000000	0.03702	0.028000	0.11728	-1.343000	0.02642	-0.514000	0.06488	0.459000	0.35465	CAT		0.493	FLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034018.5	NM_001014342		4	154	0	0	0	1	0	4	154					T	152328894	A	T	152328894	3	4	375	1	0	0	0	0	1	0	0	0	5923	214	8	5	5811	5	FLG2	1	152328894	Missense_Mutation	SNP	A	TCGA-V1-A8WL-01A-11D-A377-08	91950958	152328894	96921727	2	18523											
OLFML2B	25903	broad.mit.edu	37	chr1	161987210	161987210	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcctccagtttatccactcGccccaccagtttggtggtga	6	12	8	15	1	0	1	0	1	0	0	4	1	3	1	6	2	0	2	6	2	1	3			TCGA-V1-A8WL-01A-11D-A377-08	TCGA-V1-A8WL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aca1a7-bdad-4b88-88b7-6c6f7bd62490	ea6da482-f7f1-4a1a-8380-b96418427d42	g.chr1:161987210G>A	ENST00000294794.3	-	3	949	c.526C>T	c.(526-528)Cga>Tga	p.R176*	OLFML2B_ENST00000367940.2_Nonsense_Mutation_p.R176*	NM_015441.1	NP_056256.1	Q68BL8	OLM2B_HUMAN	olfactomedin-like 2B	176					extracellular matrix organization (GO:0030198)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)	p.R176*(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48	all_hematologic(112;0.156)		BRCA - Breast invasive adenocarcinoma(70;0.0172)			TTATCCACTCGCCCCACCAGT	0.443																																						ENST00000294794.3																			1	Substitution - Nonsense(1)	p.R176*(1)	upper_aerodigestive_tract(1)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						c.(526-528)Cga>Tga		olfactomedin-like 2B							110	109	110					1																	161987210		2203	4300	6503	SO:0001587	stop_gained	25903							g.chr1:161987210G>A	BX648975	CCDS1236.1, CCDS72966.1	1q23.1	2008-02-05			ENSG00000162745	ENSG00000162745			24558	protein-coding gene	gene with protein product							Standard	XM_005245075		Approved	DKFZP586L151	uc001gbu.3	Q68BL8	OTTHUMG00000024047	ENST00000294794.3:c.526C>T	1.37:g.161987210G>A	ENSP00000294794:p.Arg176*					OLFML2B_ENST00000367940.2_Nonsense_Mutation_p.R176*	p.R176*	NM_015441.1	NP_056256.1	Q68BL8	OLM2B_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.0172)		3	949	-	all_hematologic(112;0.156)		176					B7ZA39|Q5VU96|Q6NX46|Q86X11|Q9Y3X6	Nonsense_Mutation	SNP	ENST00000294794.3	37	c.526C>T	CCDS1236.1	.	.	.	.	.	.	.	.	.	.	G	39	7.705661	0.98444	.	.	ENSG00000162745	ENST00000294794;ENST00000367940	.	.	.	5.27	3.38	0.38709	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1.000000	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.4841	0.55861	0.0:0.0:0.6969:0.3031	.	.	.	.	X	176	.	ENSP00000294794:R176X	R	-	1	2	OLFML2B	160253834	1.000000	0.71417	0.985000	0.45067	0.982000	0.71751	6.070000	0.71220	0.770000	0.33336	0.655000	0.94253	CGA		0.443	OLFML2B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000060552.2	NM_015441		4	151	0	0	0	1	0	4	151					A	161987210	G	A	161987210	4	1	375	1	0	0	0	0	0	1	0	0	10858	1095	38	1	1750	1	OLFML2B	1	161987210	Nonsense_Mutation	SNP	G	TCGA-V1-A8WL-01A-11D-A377-08	9658316	161987210	87263411	3	18524											
C1orf26	54823	broad.mit.edu	37	chr1	185159704	185159704	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gattgagtgatgagaacaatGatgatcgagtactaaaatgc	16	10	11	4	1	0	5	0	5	0	1	1	8	0	5	0	0	3	1	0	0	5	3			TCGA-V1-A8WL-01A-11D-A377-08	TCGA-V1-A8WL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aca1a7-bdad-4b88-88b7-6c6f7bd62490	ea6da482-f7f1-4a1a-8380-b96418427d42	g.chr1:185159704G>T	ENST00000367500.4	+	10	1618	c.1453G>T	c.(1453-1455)Gat>Tat	p.D485Y	SWT1_ENST00000367501.3_Missense_Mutation_p.D485Y	NM_017673.6	NP_060143.4	Q5T5J6	SWT1_HUMAN	SWT1 RNA endoribonuclease homolog (S. cerevisiae)	485	PINc.									breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(16)|ovary(1)|prostate(1)|urinary_tract(1)	41						TGAGAACAATGATGATCGAGT	0.363																																						ENST00000367500.4																			0				breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(16)|ovary(1)|prostate(1)|urinary_tract(1)	41						c.(1453-1455)Gat>Tat		SWT1 RNA endoribonuclease homolog (S. cerevisiae)							173	154	160					1																	185159704		2203	4300	6503	SO:0001583	missense	54823							g.chr1:185159704G>T	AF288392	CCDS1367.1	1q25	2013-08-29	2011-01-24	2011-01-24	ENSG00000116668	ENSG00000116668			16785	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 26"	C1orf26		11318611, 19127978, 23768067	Standard	NM_017673		Approved	FLJ20121, HsSwt1	uc001grg.4	Q5T5J6	OTTHUMG00000035390	ENST00000367500.4:c.1453G>T	1.37:g.185159704G>T	ENSP00000356470:p.Asp485Tyr					SWT1_ENST00000367501.3_Missense_Mutation_p.D485Y	p.D485Y	NM_017673.6	NP_060143.4	Q5T5J6	SWT1_HUMAN			10	1618	+			485			PINc.		Q8NEK9|Q9BZQ7|Q9NXQ0	Missense_Mutation	SNP	ENST00000367500.4	37	c.1453G>T	CCDS1367.1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.263229	0.80358	.	.	ENSG00000116668	ENST00000367501;ENST00000367500	T;T	0.81163	-1.46;-1.46	5.65	5.65	0.86999	Nucleotide binding protein, PINc (1);	0.000000	0.85682	D	0.000000	D	0.92551	0.7634	M	0.93594	3.435	0.58432	D	0.999997	D	0.89917	1.0	D	0.97110	1.0	D	0.94051	0.7318	10	0.87932	D	0	.	17.9094	0.88929	0.0:0.0:1.0:0.0	.	485	Q5T5J6	SWT1_HUMAN	Y	485	ENSP00000356471:D485Y;ENSP00000356470:D485Y	ENSP00000356470:D485Y	D	+	1	0	SWT1	183426327	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.205000	0.77881	2.649000	0.89929	0.655000	0.94253	GAT		0.363	SWT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085790.1	NM_017673		10	30	1	0	1.5842e-08	1	1.7728e-08	10	30					T	185159704	G	T	185159704	3	4	375	1	0	0	0	0	1	0	0	0	2035	1290	45	5	1487	5	C1orf26	1	185159704	Missense_Mutation	SNP	G	TCGA-V1-A8WL-01A-11D-A377-08	23172494	185159704	64090917	4	18525											
PROC	5624	broad.mit.edu	37	chr2	128186098	128186098	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	catagtgcccatctgcctccCggacagcggccttgcagagc	7	7	11	16	2	1	1	0	0	1	1	2	2	2	2	4	2	5	1	4	2	1	2			TCGA-V1-A8WL-01A-11D-A377-08	TCGA-V1-A8WL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aca1a7-bdad-4b88-88b7-6c6f7bd62490	ea6da482-f7f1-4a1a-8380-b96418427d42	g.chr2:128186098C>T	ENST00000234071.3	+	9	1049	c.962C>T	c.(961-963)cCg>cTg	p.P321L	PROC_ENST00000453608.2_Missense_Mutation_p.P376L|PROC_ENST00000409048.1_Missense_Mutation_p.P355L|PROC_ENST00000422777.3_Missense_Mutation_p.P321L	NM_000312.3	NP_000303.1	P04070	PROC_HUMAN	protein C (inactivator of coagulation factors Va and VIIIa)	321	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.		P -> L (in THPH3). {ECO:0000269|PubMed:8292730, ECO:0000269|PubMed:8499565}.		blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|leukocyte migration (GO:0050900)|negative regulation of apoptotic process (GO:0043066)|negative regulation of blood coagulation (GO:0030195)|peptidyl-glutamic acid carboxylation (GO:0017187)|post-translational protein modification (GO:0043687)|proteolysis (GO:0006508)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|serine-type endopeptidase activity (GO:0004252)			endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)	15	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0673)	Antihemophilic Factor(DB00025)|Menadione(DB00170)|Sodium Tetradecyl Sulfate(DB00464)	ATCTGCCTCCCGGACAGCGGC	0.652																																						ENST00000453608.2																			0				endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)	15	GRCh37	CM930618	PROC	M		c.(1126-1128)cCg>cTg		protein C (inactivator of coagulation factors Va and VIIIa)	Antihemophilic Factor(DB00025)|Drotrecogin alfa(DB00055)|Menadione(DB00170)|Sodium Tetradecyl Sulfate(DB00464)						97	90	92					2																	128186098		2203	4300	6503	SO:0001583	missense	5624				blood coagulation|leukocyte migration|negative regulation of apoptosis|negative regulation of blood coagulation|peptidyl-glutamic acid carboxylation|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|Golgi lumen|plasma membrane	calcium ion binding|protein binding|serine-type endopeptidase activity	g.chr2:128186098C>T	X02750	CCDS2145.1	2q13-q14	2014-01-30			ENSG00000115718	ENSG00000115718		"Endogenous ligands"	9451	protein-coding gene	gene with protein product	"prepro-protein C"	612283				2991887, 2437584	Standard	NM_000312		Approved		uc002tok.3	P04070	OTTHUMG00000131528	ENST00000234071.3:c.962C>T	2.37:g.128186098C>T	ENSP00000234071:p.Pro321Leu					PROC_ENST00000409048.1_Missense_Mutation_p.P355L|PROC_ENST00000422777.3_Missense_Mutation_p.P321L|PROC_ENST00000234071.3_Missense_Mutation_p.P321L	p.P376L			P04070	PROC_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0673)	8	1135	+	Colorectal(110;0.1)		321			Peptidase S1.		B4DPQ7|Q15189|Q15190|Q16001|Q53S74|Q9UC55	Missense_Mutation	SNP	ENST00000234071.3	37	c.1127C>T	CCDS2145.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	22.0|22.0	4.228254|4.228254	0.79576|0.79576	.|.	.|.	ENSG00000115718|ENSG00000115718	ENST00000234071;ENST00000537436;ENST00000453608;ENST00000409048;ENST00000422777|ENST00000402125	D;D;D;D|.	0.94931|.	-3.56;-3.56;-3.56;-3.56|.	5.55|5.55	5.55|5.55	0.83447|0.83447	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);|.	0.000000|.	0.43416|.	D|.	0.000562|.	D|D	0.83238|0.83238	0.5211|0.5211	M|M	0.85945|0.85945	2.785|2.785	0.80722|0.80722	D|D	1|1	D;D;D;D|.	0.89917|.	1.0;1.0;1.0;1.0|.	D;D;D;D|.	0.97110|.	1.0;1.0;1.0;1.0|.	D|D	0.84545|0.84545	0.0641|0.0641	10|5	0.87932|.	D|.	0|.	.|.	19.5099|19.5099	0.95137|0.95137	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	376;377;355;321|.	B4DPQ7;B4DPQ3;E7END6;P04070|.	.;.;.;PROC_HUMAN|.	L|W	321;280;376;355;321|96	ENSP00000234071:P321L;ENSP00000404030:P376L;ENSP00000386679:P355L;ENSP00000409543:P321L|.	ENSP00000234071:P321L|.	P|R	+|+	2|1	0|2	PROC|PROC	127902568|127902568	1.000000|1.000000	0.71417|0.71417	0.686000|0.686000	0.30086|0.30086	0.251000|0.251000	0.25915|0.25915	7.671000|7.671000	0.83941|0.83941	2.627000|2.627000	0.88993|0.88993	0.561000|0.561000	0.74099|0.74099	CCG|CGG		0.652	PROC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254385.2	NM_000312		22	52	0	0	0	1	0	22	52					T	128186098	C	T	128186098	3	4	375	1	0	0	0	0	1	0	0	0	12545	652	23	2	992	2	PROC	2	128186098	Missense_Mutation	SNP	C	TCGA-V1-A8WL-01A-11D-A377-08		128186098	115013275	5	18526											
SPAG16	79582	broad.mit.edu	37	chr2	215274874	215274874	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tctccctcaggtcgagttttAgctcaggcaagtggcaatgg	8	11	12	10	1	3	0	2	0	1	0	5	1	3	0	1	4	1	4	1	4	3	2			TCGA-V1-A8WL-01A-11D-A377-08	TCGA-V1-A8WL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aca1a7-bdad-4b88-88b7-6c6f7bd62490	ea6da482-f7f1-4a1a-8380-b96418427d42	g.chr2:215274874A>G	ENST00000331683.5	+	16	1826	c.1731A>G	c.(1729-1731)ttA>ttG	p.L577L	AC107218.3_ENST00000412896.1_RNA|SPAG16_ENST00000374309.3_Silent_p.L483L|VWC2L_ENST00000427124.1_5'Flank|VWC2L_ENST00000312504.5_5'Flank|AC107218.3_ENST00000437883.1_RNA	NM_024532.4	NP_078808.3	Q8N0X2	SPG16_HUMAN	sperm associated antigen 16	577					cilium assembly (GO:0042384)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|microtubule cytoskeleton (GO:0015630)|motile cilium (GO:0031514)|nucleus (GO:0005634)				endometrium(4)|kidney(1)|large_intestine(15)|lung(27)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	56		Renal(323;0.00461)		UCEC - Uterine corpus endometrioid carcinoma (47;0.0525)|Epithelial(149;7.07e-07)|all cancers(144;7.96e-05)|Lung(261;0.00255)|LUSC - Lung squamous cell carcinoma(224;0.00599)		GTCGAGTTTTAGCTCAGGCAA	0.413																																						ENST00000331683.5																			0				endometrium(4)|kidney(1)|large_intestine(15)|lung(27)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	56						c.(1729-1731)ttA>ttG		sperm associated antigen 16							79	76	77					2																	215274874		2203	4300	6503	SO:0001819	synonymous_variant	79582				cilium assembly	cilium axoneme|flagellar axoneme		g.chr2:215274874A>G	AF310672	CCDS2396.1, CCDS46508.1	2q34	2013-05-21			ENSG00000144451	ENSG00000144451		"WD repeat domain containing"	23225	protein-coding gene	gene with protein product		612173				12391165, 11867345	Standard	NM_024532		Approved	PF20, FLJ22724, DKFZp666P1710, WDR29	uc002veq.4	Q8N0X2	OTTHUMG00000133015	ENST00000331683.5:c.1731A>G	2.37:g.215274874A>G						AC107218.3_ENST00000437883.1_RNA|AC107218.3_ENST00000412896.1_RNA|SPAG16_ENST00000374309.3_Silent_p.L483L	p.L577L	NM_024532.4	NP_078808.3	Q8N0X2	SPG16_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (47;0.0525)|Epithelial(149;7.07e-07)|all cancers(144;7.96e-05)|Lung(261;0.00255)|LUSC - Lung squamous cell carcinoma(224;0.00599)	16	1826	+		Renal(323;0.00461)	577					Q498B7|Q658W1|Q68DB3|Q6I9Z6|Q8N9C7|Q9H601	Silent	SNP	ENST00000331683.5	37	c.1731A>G	CCDS2396.1																																																																																				0.413	SPAG16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256601.2	NM_024532		3	48	0	0	0	1	0	3	48					G	215274874	A	G	215274874	2	3	375	1	0	0	0	0	0	0	0	1	14978	417	15	4		4	SPAG16	2	215274874	Silent	SNP	A	TCGA-V1-A8WL-01A-11D-A377-08	87088776	215274874	27924499	6	18527											
ST3GAL6	10402	broad.mit.edu	37	chr3	98487336	98487336	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtgctgtcttcctctattatGtactgcattgcatattatgg	7	18	8	8	0	2	0	0	0	2	0	3	0	3	0	1	1	4	4	1	1	5	7			TCGA-V1-A8WL-01A-11D-A377-08	TCGA-V1-A8WL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aca1a7-bdad-4b88-88b7-6c6f7bd62490	ea6da482-f7f1-4a1a-8380-b96418427d42	g.chr3:98487336G>T	ENST00000483910.1	+	2	341	c.52G>T	c.(52-54)Gta>Tta	p.V18L	ST3GAL6_ENST00000462152.1_Intron|ST3GAL6_ENST00000394162.1_Missense_Mutation_p.V18L|ST3GAL6_ENST00000265261.6_5'UTR|ST3GAL6_ENST00000468553.1_Missense_Mutation_p.V18L	NM_001271146.1	NP_001258075.1	Q9Y274	SIA10_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase 6	18					carbohydrate metabolic process (GO:0005975)|cellular protein modification process (GO:0006464)|cellular response to interleukin-6 (GO:0071354)|glycolipid metabolic process (GO:0006664)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|oligosaccharide metabolic process (GO:0009311)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)|integral component of membrane (GO:0016021)	beta-galactoside alpha-2,3-sialyltransferase activity (GO:0052798)			breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(1)	19						CCTCTATTATGTACTGCATTG	0.398																																						ENST00000394162.1																			0				breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(1)	19						c.(52-54)Gta>Tta		ST3 beta-galactoside alpha-2,3-sialyltransferase 6							253	233	239					3																	98487336		2203	4300	6503	SO:0001583	missense	10402				amino sugar metabolic process|glycolipid metabolic process|protein glycosylation|protein lipoylation	integral to Golgi membrane	sialyltransferase activity	g.chr3:98487336G>T	AF119391	CCDS2933.1, CCDS59452.1, CCDS74968.1	3q12.2	2013-03-01	2005-02-07	2005-02-07	ENSG00000064225	ENSG00000064225		"Sialyltransferases"	18080	protein-coding gene	gene with protein product		607156	"sialyltransferase 10 (alpha-2,3-sialyltransferase VI)"	SIAT10		10206952	Standard	NM_006100		Approved	ST3GALVI	uc010hpd.4	Q9Y274	OTTHUMG00000159047	ENST00000483910.1:c.52G>T	3.37:g.98487336G>T	ENSP00000417376:p.Val18Leu					ST3GAL6_ENST00000468553.1_Missense_Mutation_p.V18L|ST3GAL6_ENST00000462152.1_Intron|ST3GAL6_ENST00000265261.6_5'UTR|ST3GAL6_ENST00000483910.1_Missense_Mutation_p.V18L	p.V18L	NM_006100.2	NP_006091.1	Q9Y274	SIA10_HUMAN			3	519	+			18					B2RCH2|B3KMI1|D3DN39|F8W6U0	Missense_Mutation	SNP	ENST00000483910.1	37	c.52G>T	CCDS2933.1	.	.	.	.	.	.	.	.	.	.	G	15.00	2.702759	0.48307	.	.	ENSG00000064225	ENST00000483910;ENST00000460774;ENST00000497008;ENST00000486334;ENST00000394162;ENST00000468553;ENST00000485391;ENST00000492254	T;T;T;T	0.50813	0.89;0.88;0.89;0.73	6.06	5.18	0.71444	.	0.361557	0.24398	N	0.038872	T	0.32224	0.0822	L	0.27053	0.805	0.80722	D	1	B;B	0.09022	0.002;0.002	B;B	0.09377	0.004;0.004	T	0.08743	-1.0707	10	0.15066	T	0.55	-6.9906	11.645	0.51255	0.083:0.0:0.917:0.0	.	41;18	C9J480;Q9Y274	.;SIA10_HUMAN	L	18;18;18;18;18;18;18;41	ENSP00000417376:V18L;ENSP00000418896:V18L;ENSP00000377717:V18L;ENSP00000417201:V41L	ENSP00000377717:V18L	V	+	1	0	ST3GAL6	99970026	0.971000	0.33674	0.996000	0.52242	0.981000	0.71138	1.666000	0.37460	2.882000	0.98803	0.655000	0.94253	GTA		0.398	ST3GAL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353013.2	NM_006100		41	88	1	0	3.76604e-16	1	4.42509e-16	41	88					T	98487336	G	T	98487336	3	4	375	1	0	0	0	0	1	0	0	0	15218	1377	48	5	54	5	ST3GAL6	3	98487336	Missense_Mutation	SNP	G	TCGA-V1-A8WL-01A-11D-A377-08		98487336	99535094	7	18528											
ATR	545	broad.mit.edu	37	chr3	142281238	142281238	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tagcaaatcagacttaagccGcatgagcacaccgtcttcaa	14	8	7	12	2	3	2	2	1	1	1	3	2	3	2	2	0	3	3	2	0	4	3			TCGA-V1-A8WL-01A-11D-A377-08	TCGA-V1-A8WL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aca1a7-bdad-4b88-88b7-6c6f7bd62490	ea6da482-f7f1-4a1a-8380-b96418427d42	g.chr3:142281238G>A	ENST00000350721.4	-	4	1127	c.1006C>T	c.(1006-1008)Cgg>Tgg	p.R336W	ATR_ENST00000383101.3_Missense_Mutation_p.R336W	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ATR serine/threonine kinase	336					cell cycle (GO:0007049)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|cellular response to UV (GO:0034644)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|multicellular organismal development (GO:0007275)|negative regulation of DNA replication (GO:0008156)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|protein autophosphorylation (GO:0046777)|regulation of protein binding (GO:0043393)|replicative senescence (GO:0090399)|response to drug (GO:0042493)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|PML body (GO:0016605)|XY body (GO:0001741)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|MutLalpha complex binding (GO:0032405)|MutSalpha complex binding (GO:0032407)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.R336W(2)		NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						GACTTAAGCCGCATGAGCACA	0.388								Other conserved DNA damage response genes																														ENST00000350721.4																			2	Substitution - Missense(2)	p.R336W(2)	large_intestine(1)|kidney(1)	NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						c.(1006-1008)Cgg>Tgg	Other conserved DNA damage response genes	ataxia telangiectasia and Rad3 related							76	78	78					3																	142281238		2203	4300	6503	SO:0001583	missense	545				cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence	PML body	ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity	g.chr3:142281238G>A	U76308	CCDS3124.1	3q23	2014-06-17	2014-06-17		ENSG00000175054	ENSG00000175054			882	protein-coding gene	gene with protein product	"MEC1, mitosis entry checkpoint 1, homolog (S. cerevisiae)"	601215	"ataxia telangiectasia and Rad3 related"			8978690, 8610130	Standard	NM_001184		Approved	FRP1, SCKL, SCKL1, MEC1	uc003eux.4	Q13535	OTTHUMG00000159234	ENST00000350721.4:c.1006C>T	3.37:g.142281238G>A	ENSP00000343741:p.Arg336Trp					ATR_ENST00000383101.3_Missense_Mutation_p.R336W	p.R336W	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN			4	1127	-			336					Q59HB2|Q7KYL3|Q93051|Q9BXK4	Missense_Mutation	SNP	ENST00000350721.4	37	c.1006C>T	CCDS3124.1	.	.	.	.	.	.	.	.	.	.	G	10.58	1.391280	0.25118	.	.	ENSG00000175054	ENST00000350721;ENST00000383101;ENST00000515149	T;T	0.68479	-0.33;-0.33	5.46	3.47	0.39725	Armadillo-like helical (1);Armadillo-type fold (1);	0.811573	0.10726	N	0.641204	T	0.50446	0.1616	N	0.19112	0.55	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.43294	-0.9400	10	0.56958	D	0.05	0.0107	8.1248	0.30992	0.1544:0.0:0.6422:0.2033	.	336	Q13535	ATR_HUMAN	W	336;336;17	ENSP00000343741:R336W;ENSP00000372581:R336W	ENSP00000343741:R336W	R	-	1	2	ATR	143763928	0.002000	0.14202	0.992000	0.48379	0.950000	0.60333	0.634000	0.24614	1.304000	0.44892	0.591000	0.81541	CGG		0.388	ATR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353995.2	NM_001184		4	75	0	0	0	1	0	4	75					A	142281238	G	A	142281238	3	1	375	1	0	0	0	0	1	0	0	0	1204	1086	38	1	7104	1	ATR	3	142281238	Missense_Mutation	SNP	G	TCGA-V1-A8WL-01A-11D-A377-08	43793902	142281238	55741192	8	18529											
EXOC1	55763	broad.mit.edu	37	chr4	56755065	56755065	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	ccatcacagctacactgcctCgaaaagaaagtgctgtcaaa	15	7	7	12	1	2	1	2	0	0	1	3	2	2	1	2	0	4	2	2	0	5	1			TCGA-V1-A8WL-01A-11D-A377-08	TCGA-V1-A8WL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aca1a7-bdad-4b88-88b7-6c6f7bd62490	ea6da482-f7f1-4a1a-8380-b96418427d42	g.chr4:56755065C>G	ENST00000381295.2	+	11	1690	c.1342C>G	c.(1342-1344)Cga>Gga	p.R448G	EXOC1_ENST00000349598.6_Intron|EXOC1_ENST00000346134.7_Missense_Mutation_p.R448G	NM_001024924.1	NP_001020095.1	Q9NV70	EXOC1_HUMAN	exocyst complex component 1	448					cellular protein metabolic process (GO:0044267)|exocytosis (GO:0006887)|membrane organization (GO:0061024)|protein transport (GO:0015031)	exocyst (GO:0000145)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	35	Glioma(25;0.08)|all_neural(26;0.101)					TACACTGCCTCGAAAAGAAAG	0.373																																						ENST00000381295.2																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	35						c.(1342-1344)Cga>Gga		exocyst complex component 1							189	168	175					4																	56755065		2203	4300	6503	SO:0001583	missense	55763				exocytosis|protein transport	exocyst	protein binding	g.chr4:56755065C>G	AK027047	CCDS3502.1, CCDS3503.1	4q12	2013-01-22	2005-11-01	2005-11-01	ENSG00000090989	ENSG00000090989			30380	protein-coding gene	gene with protein product		607879	"SEC3-like 1 (S. cerevisiae)"	SEC3L1		11042152, 11406615	Standard	XM_005265747		Approved	SEC3, FLJ10893, BM-102, Sec3p	uc003hbf.1	Q9NV70	OTTHUMG00000102165	ENST00000381295.2:c.1342C>G	4.37:g.56755065C>G	ENSP00000370695:p.Arg448Gly					EXOC1_ENST00000349598.6_Intron|EXOC1_ENST00000346134.7_Missense_Mutation_p.R448G	p.R448G	NM_001024924.1	NP_001020095.1	Q9NV70	EXOC1_HUMAN			11	1690	+	Glioma(25;0.08)|all_neural(26;0.101)		448					Q504V4|Q8WUE7|Q96T15|Q9NZE4	Missense_Mutation	SNP	ENST00000381295.2	37	c.1342C>G	CCDS3502.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.026617	0.75390	.	.	ENSG00000090989	ENST00000381295;ENST00000346134	.	.	.	5.48	5.48	0.80851	.	0.000000	0.85682	D	0.000000	T	0.33235	0.0856	N	0.02011	-0.69	0.80722	D	1	B	0.17038	0.02	B	0.15052	0.012	T	0.24225	-1.0166	9	0.15499	T	0.54	.	19.3563	0.94416	0.0:1.0:0.0:0.0	.	448	Q9NV70	EXOC1_HUMAN	G	448	.	ENSP00000326514:R448G	R	+	1	2	EXOC1	56449822	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.337000	0.79256	2.574000	0.86865	0.557000	0.71058	CGA		0.373	EXOC1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361799.1	NM_018261		15	44	0	0	0	1	0	15	44					G	56755065	C	G	56755065	3	3	375	1	0	0	0	0	1	0	0	0	5301	876	31	5	1380	5	EXOC1	4	56755065	Missense_Mutation	SNP	C	TCGA-V1-A8WL-01A-11D-A377-08		56755065	134399211	9	18530											
SPATA5	166378	broad.mit.edu	37	chr4	123848881	123848881	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atatatgtataggtcgaccaGtgttgcttactagtttgaac	11	15	9	6	1	0	1	0	1	0	0	1	2	0	1	1	1	3	4	1	1	7	8			TCGA-V1-A8WL-01A-11D-A377-08	TCGA-V1-A8WL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aca1a7-bdad-4b88-88b7-6c6f7bd62490	ea6da482-f7f1-4a1a-8380-b96418427d42	g.chr4:123848881G>C	ENST00000274008.4	+	2	325	c.256G>C	c.(256-258)Gtg>Ctg	p.V86L	SPATA5_ENST00000422835.2_3'UTR	NM_145207.2	NP_660208.2	Q8NB90	SPAT5_HUMAN	spermatogenesis associated 5	86					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)			endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24						AGGTCGACCAGTGTTGCTTAC	0.343																																						ENST00000274008.3																			0				endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24						c.(256-258)Gtg>Ctg		spermatogenesis associated 5							133	130	131					4																	123848881		2203	4300	6503	SO:0001583	missense	166378				cell differentiation|multicellular organismal development|spermatogenesis	mitochondrion	ATP binding|nucleoside-triphosphatase activity	g.chr4:123848881G>C	AF361489	CCDS3730.1	4q28.1	2010-04-21			ENSG00000145375	ENSG00000145375		"ATPases / AAA-type"	18119	protein-coding gene	gene with protein product	"ATPase family gene 2 homolog (S. cerevisiae)"	613940				16465403	Standard	NM_145207		Approved	SPAF, AFG2	uc003iez.4	Q8NB90	OTTHUMG00000133074	ENST00000274008.4:c.256G>C	4.37:g.123848881G>C	ENSP00000274008:p.Val86Leu					SPATA5_ENST00000422835.2_3'UTR	p.V86L	NM_145207.2	NP_660208.2	Q8NB90	SPAT5_HUMAN			2	325	+			86					C9JT97|Q86XW1|Q8NI20|Q8TDL7	Missense_Mutation	SNP	ENST00000274008.4	37	c.256G>C	CCDS3730.1	.	.	.	.	.	.	.	.	.	.	G	18.38	3.611871	0.66558	.	.	ENSG00000145375	ENST00000274008	D	0.87334	-2.24	4.38	4.38	0.52667	Aspartate decarboxylase-like fold (1);	0.000000	0.64402	D	0.000001	D	0.88112	0.6349	L	0.59436	1.845	0.45867	D	0.998721	D;D	0.61697	0.982;0.99	B;P	0.49301	0.401;0.606	D	0.89810	0.3981	10	0.72032	D	0.01	-15.0092	15.7091	0.77609	0.0:0.0:1.0:0.0	.	86;86	Q8NB90;Q8NB90-3	SPAT5_HUMAN;.	L	86	ENSP00000274008:V86L	ENSP00000274008:V86L	V	+	1	0	SPATA5	124068331	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	5.828000	0.69307	2.459000	0.83118	0.655000	0.94253	GTG		0.343	SPATA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256714.2	NM_145207		34	55	0	0	0	1	0	34	55					C	123848881	G	C	123848881	3	2	375	1	0	0	0	0	1	0	0	0	15010	1029	36	5	262	5	SPATA5	4	123848881	Missense_Mutation	SNP	G	TCGA-V1-A8WL-01A-11D-A377-08	67093816	123848881	67305395	10	18531											
EPB41L4A	64097	broad.mit.edu	37	chr5	111540132	111540132	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggaggggtttcggcgacgcGtgtaagggaactttggcgac	8	8	18	7	5	0	0	0	0	0	0	1	4	0	2	0	6	1	2	0	6	2	3	rs201974109		TCGA-V1-A8WL-01A-11D-A377-08	TCGA-V1-A8WL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aca1a7-bdad-4b88-88b7-6c6f7bd62490	ea6da482-f7f1-4a1a-8380-b96418427d42	g.chr5:111540132G>A	ENST00000261486.5	-	15	1592	c.1316C>T	c.(1315-1317)aCg>aTg	p.T439M	CTC-459M5.2_ENST00000505825.1_RNA|CTC-459M5.2_ENST00000506875.1_RNA|EPB41L4A_ENST00000507810.1_5'UTR	NM_022140.3	NP_071423	Q9HCS5	E41LA_HUMAN	erythrocyte membrane protein band 4.1 like 4A	439						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)				breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(2)|skin(1)	34		all_cancers(142;4.93e-06)|all_epithelial(76;2.28e-08)|Prostate(80;0.000244)|Colorectal(10;0.000788)|Ovarian(225;0.0448)|Lung NSC(167;0.126)|all_lung(232;0.135)		OV - Ovarian serous cystadenocarcinoma(64;6.24e-09)|Epithelial(69;1.43e-07)|all cancers(49;2.78e-05)|COAD - Colon adenocarcinoma(37;0.0467)|Colorectal(14;0.0791)		TCGGCGACGCGTGTAAGGGAA	0.498													G|||	1	0.000199681	8e-04	0	5008	,	,		16066	0		0	False		,,,				2504	0					ENST00000261486.5																			0				breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(2)|skin(1)	34						c.(1315-1317)aCg>aTg		erythrocyte membrane protein band 4.1 like 4A							184	185	185					5																	111540132		1959	4150	6109	SO:0001583	missense	64097					cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding	g.chr5:111540132G>A	AB030240	CCDS43350.1	5q21.3	2008-02-05			ENSG00000129595	ENSG00000129595			13278	protein-coding gene	gene with protein product		612141				10874211	Standard	XM_005272043		Approved	NBL4	uc003kpv.1	Q9HCS5	OTTHUMG00000162902	ENST00000261486.5:c.1316C>T	5.37:g.111540132G>A	ENSP00000261486:p.Thr439Met					EPB41L4A_ENST00000507810.1_5'UTR|CTC-459M5.2_ENST00000506875.1_RNA	p.T439M	NM_022140.3	NP_071423.3	Q9HCS5	E41LA_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;6.24e-09)|Epithelial(69;1.43e-07)|all cancers(49;2.78e-05)|COAD - Colon adenocarcinoma(37;0.0467)|Colorectal(14;0.0791)	15	1592	-		all_cancers(142;4.93e-06)|all_epithelial(76;2.28e-08)|Prostate(80;0.000244)|Colorectal(10;0.000788)|Ovarian(225;0.0448)|Lung NSC(167;0.126)|all_lung(232;0.135)	439					A4FUI6	Missense_Mutation	SNP	ENST00000261486.5	37	c.1316C>T	CCDS43350.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	G	11.51	1.659365	0.29515	.	.	ENSG00000129595	ENST00000261486	D	0.82711	-1.64	5.99	5.12	0.69794	.	0.659430	0.15962	N	0.236182	T	0.67297	0.2878	N	0.08118	0	0.09310	N	1	P;B	0.35793	0.521;0.145	B;B	0.31337	0.128;0.021	T	0.61778	-0.6993	10	0.52906	T	0.07	.	12.5635	0.56295	0.0776:0.0:0.9224:0.0	.	439;66	Q9HCS5;Q8N8X1	E41LA_HUMAN;.	M	439	ENSP00000261486:T439M	ENSP00000261486:T439M	T	-	2	0	EPB41L4A	111568031	0.296000	0.24398	0.002000	0.10522	0.606000	0.37113	3.724000	0.54962	1.538000	0.49270	0.655000	0.94253	ACG		0.498	EPB41L4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370969.1			33	78	0	0	0	1	0	33	78					A	111540132	G	A	111540132	3	1	375	1	0	0	0	0	1	0	0	0	5155	1145	40	1	780	1	EPB41L4A	5	111540132	Missense_Mutation	SNP	G	TCGA-V1-A8WL-01A-11D-A377-08		111540132	69375128	11	18532											
MYOT	9499	broad.mit.edu	37	chr5	137213210	137213210	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcaataaattctctaaagcGtctaacatatgaagagaaga	18	10	6	7	1	3	3	1	1	2	2	4	4	3	3	0	0	2	0	0	0	9	5	rs150293853		TCGA-V1-A8WL-01A-11D-A377-08	TCGA-V1-A8WL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aca1a7-bdad-4b88-88b7-6c6f7bd62490	ea6da482-f7f1-4a1a-8380-b96418427d42	g.chr5:137213210G>A	ENST00000239926.4	+	4	907	c.533G>A	c.(532-534)cGt>cAt	p.R178H	MYOT_ENST00000509812.1_3'UTR|MYOT_ENST00000421631.2_5'UTR|MYOT_ENST00000515645.1_Splice_Site_p.R63H|RP11-381K20.2_ENST00000514616.1_RNA	NM_006790.2	NP_006781	Q9UBF9	MYOTI_HUMAN	myotilin	178					muscle contraction (GO:0006936)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	structural constituent of muscle (GO:0008307)	p.R178H(1)		cervix(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	23			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			TCTCTAAAGCGTCTAACATAT	0.398													G|||	1	0.000199681	0	0	5008	,	,		14939	0		0.001	False		,,,				2504	0					ENST00000239926.4																			1	Substitution - Missense(1)	p.R178H(1)	large_intestine(1)	cervix(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	23						c.e4-1		myotilin		G	,HIS/ARG	0,4406		0,0,2203	77	77	77		,533	5.7	1	5	dbSNP_134	77	4,8596	3.7+/-12.6	0,4,4296	yes	utr-5,missense-near-splice	MYOT	NM_001135940.1,NM_006790.2	,29	0,4,6499	AA,AG,GG		0.0465,0.0,0.0308	,probably-damaging	,178/499	137213210	4,13002	2203	4300	6503	SO:0001630	splice_region_variant	9499				muscle contraction	actin cytoskeleton|sarcolemma|sarcomere	actin binding|structural constituent of muscle	g.chr5:137213210G>A	AF133820	CCDS4194.1, CCDS47268.1, CCDS75309.1	5q31.2	2014-09-17	2005-09-07	2005-09-07	ENSG00000120729	ENSG00000120729		"Immunoglobulin superfamily / I-set domain containing"	12399	protein-coding gene	gene with protein product		604103	"titin immunoglobulin domain protein (myotilin)", "limb-girdle muscular dystrophy 1A (autosomal dominant)"	TTID, LGMD1A, LGMD1		10486214, 10369880	Standard	NM_006790		Approved		uc003lbv.3	Q9UBF9	OTTHUMG00000129154	ENST00000239926.4:c.532-1G>A	5.37:g.137213210G>A						MYOT_ENST00000515645.1_Splice_Site_p.R63_splice|MYOT_ENST00000509812.1_3'UTR|MYOT_ENST00000421631.2_5'UTR|RP11-381K20.2_ENST00000514616.1_RNA	p.R178_splice	NM_006790.2	NP_006781.1	Q9UBF9	MYOTI_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)		4	907	+			178					A0A4R6|B4DT79	Splice_Site	SNP	ENST00000239926.4	37	c.531_splice	CCDS4194.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	18.39	3.614239	0.66672	0.0	4.65E-4	ENSG00000120729	ENST00000239926;ENST00000515645	T;T	0.72942	-0.7;-0.68	5.7	5.7	0.88788	.	0.000000	0.64402	D	0.000004	T	0.76212	0.3956	L	0.27053	0.805	0.40095	D	0.976309	D	0.89917	1.0	D	0.65874	0.939	T	0.76296	-0.3011	10	0.42905	T	0.14	.	19.8298	0.96631	0.0:0.0:1.0:0.0	.	178	Q9UBF9	MYOTI_HUMAN	H	178;63	ENSP00000239926:R178H;ENSP00000426281:R63H	ENSP00000239926:R178H	R	+	2	0	MYOT	137241109	1.000000	0.71417	0.999000	0.59377	0.327000	0.28475	6.020000	0.70826	2.687000	0.91594	0.591000	0.81541	CGT		0.398	MYOT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251219.2	NM_006790	Missense_Mutation	6	59	0	0	0	1	0	6	59					A	137213210	G	A	137213210	5	1	375	1	0	0	0	0	0	0	1	0	10094	1159	40	1	543	1	MYOT	5	137213210	Splice_Site	SNP	G	TCGA-V1-A8WL-01A-11D-A377-08	25673078	137213210	43702050	12	18533											
GCNT2	2651	broad.mit.edu	37	chr6	10556756	10556756	+	Intron	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgggggagatccaagcttcCaaaggctaaatatctcagac	13	9	10	9	0	1	2	1	0	1	2	4	3	3	2	2	3	1	2	2	3	5	4			TCGA-V1-A8WL-01A-11D-A377-08	TCGA-V1-A8WL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aca1a7-bdad-4b88-88b7-6c6f7bd62490	ea6da482-f7f1-4a1a-8380-b96418427d42	g.chr6:10556756C>T	ENST00000379597.3	+	1	1481				GCNT2_ENST00000397423.2_Intron|GCNT2_ENST00000316170.3_Nonsense_Mutation_p.Q34*|GCNT2_ENST00000410107.1_Intron|GCNT2_ENST00000495262.1_Intron			Q8N0V5	GNT2A_HUMAN	glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (I blood group)						maintenance of lens transparency (GO:0036438)|negative regulation of cell-substrate adhesion (GO:0010812)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of protein kinase B signaling (GO:0051897)|posttranscriptional regulation of gene expression (GO:0010608)|protein glycosylation (GO:0006486)|transforming growth factor beta receptor signaling pathway (GO:0007179)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity (GO:0008109)			endometrium(2)|kidney(1)|large_intestine(5)|lung(2)|ovary(2)	12	Ovarian(93;0.107)|Breast(50;0.148)	all_hematologic(90;0.107)		KIRC - Kidney renal clear cell carcinoma(1;0.099)|Kidney(1;0.119)		TCCAAGCTTCCAAAGGCTAAA	0.373																																						ENST00000316170.3																			0				endometrium(2)|kidney(1)|large_intestine(5)|lung(2)|ovary(2)	12						c.(100-102)Caa>Taa		glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (I blood group)							98	98	98					6																	10556756		2203	4300	6503	SO:0001627	intron_variant	2651					Golgi membrane|integral to membrane	N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity	g.chr6:10556756C>T	L41605	CCDS4512.1, CCDS4513.1, CCDS34338.1	6p24.2	2014-07-18	2006-02-23		ENSG00000111846	ENSG00000111846	2.4.1.150	"Blood group antigens", "Glucosaminyl (N-acetyl) transferase and xylosyltransferase family"	4204	protein-coding gene	gene with protein product	"Ii blood group", "unassigned linkage group 3"	600429	"glucosaminyl (N-acetyl) transferase 5", "glucosaminyl (N-acetyl) transferase 2, I-branching enzyme", "glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (Ii blood group)", "cataract, congenital"	NACGT1, II, GCNT5, CCAT		8449405, 9915862	Standard	NM_145649		Approved	IGNT, NAGCT1, bA421M1.1, bA360O19.2, ULG3	uc003mze.3	Q06430	OTTHUMG00000014244	ENST00000379597.3:c.925+26687C>T	6.37:g.10556756C>T						GCNT2_ENST00000397423.2_Intron|GCNT2_ENST00000410107.1_Intron|GCNT2_ENST00000379597.3_Intron|GCNT2_ENST00000495262.1_Intron	p.Q34*	NM_001491.2	NP_001482.1	Q8N0V5	GNT2A_HUMAN		KIRC - Kidney renal clear cell carcinoma(1;0.099)|Kidney(1;0.119)	1	517	+	Ovarian(93;0.107)|Breast(50;0.148)	all_hematologic(90;0.107)	35						Nonsense_Mutation	SNP	ENST00000379597.3	37	c.100C>T	CCDS34338.1	.	.	.	.	.	.	.	.	.	.	C	41	9.059488	0.99051	.	.	ENSG00000111846	ENST00000316170	.	.	.	5.2	5.2	0.72013	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.10377	T	0.69	.	17.669	0.88211	0.0:1.0:0.0:0.0	.	.	.	.	X	34	.	ENSP00000314844:Q34X	Q	+	1	0	GCNT2	10664742	1.000000	0.71417	0.981000	0.43875	0.935000	0.57460	2.868000	0.48436	2.576000	0.86940	0.655000	0.94253	CAA		0.373	GCNT2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000327912.3	NM_145649		36	70	0	0	0	1	0	36	70					T	10556756	C	T	10556756	1	4	375	0	1	0	0	0	0	0	0	0	6301	595	21	3		3	GCNT2	6	10556756	Intron	SNP	C	TCGA-V1-A8WL-01A-11D-A377-08		10556756	160558311	13	18534											
GPX6	257202	broad.mit.edu	37	chr6	28473512	28473512	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaagaccttctgttctttttCtccattcacatcccctttct	7	18	2	14	0	5	1	1	0	4	1	7	1	6	1	4	0	0	1	4	0	1	6			TCGA-V1-A8WL-01A-11D-A377-08	TCGA-V1-A8WL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aca1a7-bdad-4b88-88b7-6c6f7bd62490	ea6da482-f7f1-4a1a-8380-b96418427d42	g.chr6:28473512C>T	ENST00000361902.1	-	4	476	c.427G>A	c.(427-429)Gaa>Aaa	p.E143K	GPX6_ENST00000483058.1_5'Flank|GPX6_ENST00000474923.1_Intron	NM_182701.1	NP_874360.1	P59796	GPX6_HUMAN	glutathione peroxidase 6 (olfactory)	143					response to oxidative stress (GO:0006979)	extracellular region (GO:0005576)	glutathione peroxidase activity (GO:0004602)			NS(1)|kidney(1)|large_intestine(5)|lung(4)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19					Glutathione(DB00143)	TGTTCTTTTTCTCCATTCACA	0.463																																						ENST00000361902.1																			0				NS(1)|kidney(1)|large_intestine(5)|lung(4)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(427-429)Gaa>Aaa		glutathione peroxidase 6 (olfactory)	Glutathione(DB00143)						93	98	96					6																	28473512		2130	4264	6394	SO:0001583	missense	257202				response to oxidative stress	extracellular region	glutathione peroxidase activity	g.chr6:28473512C>T		CCDS43432.1	6p22.1	2012-03-01			ENSG00000198704	ENSG00000198704	1.11.1.9		4558	protein-coding gene	gene with protein product		607913	"glutathione peroxidase pseudogene 3"	GPXP3			Standard	NM_182701		Approved		uc021yrx.1	P59796	OTTHUMG00000044828	ENST00000361902.1:c.427G>A	6.37:g.28473512C>T	ENSP00000354581:p.Glu143Lys					GPX6_ENST00000474923.1_Intron	p.E143K	NM_182701.1	NP_874360.1	P59796	GPX6_HUMAN			4	476	-			143					Q4PJ17	Missense_Mutation	SNP	ENST00000361902.1	37	c.427G>A	CCDS43432.1	.	.	.	.	.	.	.	.	.	.	C	12.60	1.986080	0.35036	.	.	ENSG00000198704	ENST00000361902	T	0.09445	2.98	4.44	3.57	0.40892	Thioredoxin-like fold (2);	0.478704	0.25487	N	0.030338	T	0.03739	0.0106	L	0.46885	1.475	0.80722	D	1	B	0.20164	0.042	B	0.25405	0.06	T	0.19811	-1.0294	10	0.26408	T	0.33	.	6.3379	0.21306	0.0:0.715:0.1865:0.0984	.	143	P59796	GPX6_HUMAN	K	143	ENSP00000354581:E143K	ENSP00000354581:E143K	E	-	1	0	GPX6	28581491	0.990000	0.36364	1.000000	0.80357	0.923000	0.55619	0.869000	0.27996	1.439000	0.47511	0.655000	0.94253	GAA		0.463	GPX6-001	KNOWN	basic|appris_principal|CCDS|seleno	protein_coding	protein_coding	OTTHUMT00000104340.1			17	35	0	0	0	1	0	17	35					T	28473512	C	T	28473512	3	4	375	1	0	0	0	0	1	0	0	0	6744	922	32	3	246	3	GPX6	6	28473512	Missense_Mutation	SNP	C	TCGA-V1-A8WL-01A-11D-A377-08	17916756	28473512	142641555	14	18535											
HTR1E	3354	broad.mit.edu	37	chr6	87725912	87725912	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gatctctagcaccagggaacGgaaggcagcacgcatcctgg	11	5	13	12	2	1	0	0	0	1	0	3	3	2	2	2	4	3	4	2	4	3	1	rs61735411		TCGA-V1-A8WL-01A-11D-A377-08	TCGA-V1-A8WL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aca1a7-bdad-4b88-88b7-6c6f7bd62490	ea6da482-f7f1-4a1a-8380-b96418427d42	g.chr6:87725912G>A	ENST00000305344.5	+	2	1563	c.860G>A	c.(859-861)cGg>cAg	p.R287Q		NM_000865.2	NP_000856.1	P28566	5HT1E_HUMAN	5-hydroxytryptamine (serotonin) receptor 1E, G protein-coupled	287					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|negative regulation of cAMP metabolic process (GO:0030815)|serotonin receptor signaling pathway (GO:0007210)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)	p.R287Q(1)		breast(3)|endometrium(2)|kidney(3)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(3)	41		all_cancers(76;7.11e-06)|Acute lymphoblastic leukemia(125;1.2e-09)|Prostate(29;3.51e-09)|all_hematologic(105;7.43e-06)|all_epithelial(107;0.00819)		BRCA - Breast invasive adenocarcinoma(108;0.055)	Aripiprazole(DB01238)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Ketamine(DB01221)|Loxapine(DB00408)|Methysergide(DB00247)|Olanzapine(DB00334)|Quetiapine(DB01224)|Ziprasidone(DB00246)	ACCAGGGAACGGAAGGCAGCA	0.502																																						ENST00000305344.4																			1	Substitution - Missense(1)	p.R287Q(1)	kidney(1)	breast(3)|endometrium(2)|kidney(3)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(3)	41						c.(859-861)cGg>cAg		5-hydroxytryptamine (serotonin) receptor 1E, G protein-coupled	Eletriptan(DB00216)						175	162	167					6																	87725912		2203	4300	6503	SO:0001583	missense	3354				G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	protein binding|serotonin binding|serotonin receptor activity	g.chr6:87725912G>A		CCDS5006.1	6q14-q15	2013-06-19	2012-02-03		ENSG00000168830	ENSG00000168830		"5-HT (serotonin) receptors", "GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"	5291	protein-coding gene	gene with protein product		182132	"5-hydroxytryptamine (serotonin) receptor 1E"			1608964	Standard	NM_000865		Approved	5-HT1E	uc003pli.3	P28566	OTTHUMG00000015154	ENST00000305344.5:c.860G>A	6.37:g.87725912G>A	ENSP00000307766:p.Arg287Gln					HTR1E_ENST00000369584.1_Missense_Mutation_p.R287Q	p.R287Q	NM_000865.2	NP_000856.1	P28566	5HT1E_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.055)	2	1563	+		all_cancers(76;7.11e-06)|Acute lymphoblastic leukemia(125;1.2e-09)|Prostate(29;3.51e-09)|all_hematologic(105;7.43e-06)|all_epithelial(107;0.00819)	287					E1P503|Q9P1Y1	Missense_Mutation	SNP	ENST00000305344.5	37	c.860G>A	CCDS5006.1	.	.	.	.	.	.	.	.	.	.	G	15.93	2.979157	0.53827	.	.	ENSG00000168830	ENST00000305344;ENST00000369584	T;T	0.72835	-0.69;-0.69	4.44	3.53	0.40419	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	U	0.000016	T	0.75384	0.3842	M	0.68593	2.085	0.47819	D	0.999527	D	0.89917	1.0	D	0.74674	0.984	T	0.77153	-0.2692	10	0.49607	T	0.09	.	13.4304	0.61051	0.0:0.0:0.8416:0.1583	rs61735411	287	P28566	5HT1E_HUMAN	Q	287	ENSP00000307766:R287Q;ENSP00000358597:R287Q	ENSP00000307766:R287Q	R	+	2	0	HTR1E	87782631	1.000000	0.71417	0.997000	0.53966	0.314000	0.28054	9.219000	0.95173	0.821000	0.34540	0.205000	0.17691	CGG		0.502	HTR1E-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000472488.2	NM_000865		31	84	0	0	0	1	0	31	84					A	87725912	G	A	87725912	3	1	375	1	0	0	0	0	1	0	0	0	7439	1116	39	2	862	2	HTR1E	6	87725912	Missense_Mutation	SNP	G	TCGA-V1-A8WL-01A-11D-A377-08	59252400	87725912	83389155	15	18536											
CNR1	1268	broad.mit.edu	37	chr6	88853757	88853757	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	cgcagtgccttcacaagaggGaaacatgctccggaaagcgt	12	6	12	11	3	1	1	1	0	0	1	2	3	2	3	2	2	4	2	2	2	3	1			TCGA-V1-A8WL-01A-11D-A377-08	TCGA-V1-A8WL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aca1a7-bdad-4b88-88b7-6c6f7bd62490	ea6da482-f7f1-4a1a-8380-b96418427d42	g.chr6:88853757G>A	ENST00000537554.1	-	2	4799	c.1237C>T	c.(1237-1239)Ccc>Tcc	p.P413S	CNR1_ENST00000362094.5_3'UTR|CNR1_ENST00000428600.2_Missense_Mutation_p.P413S|CNR1_ENST00000535130.1_Missense_Mutation_p.P413S|CNR1_ENST00000468898.1_Missense_Mutation_p.P380S|CNR1_ENST00000369501.2_Missense_Mutation_p.P413S|CNR1_ENST00000549890.1_Missense_Mutation_p.P413S|CNR1_ENST00000369499.2_Missense_Mutation_p.P413S|CNR1_ENST00000549716.1_Missense_Mutation_p.P352S	NM_001160226.1|NM_001160258.1	NP_001153698.1|NP_001153730.1	P21554	CNR1_HUMAN	cannabinoid receptor 1 (brain)	413					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|aging (GO:0007568)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|glucose homeostasis (GO:0042593)|maternal process involved in female pregnancy (GO:0060135)|memory (GO:0007613)|negative regulation of action potential (GO:0045759)|negative regulation of blood pressure (GO:0045776)|negative regulation of dopamine secretion (GO:0033602)|negative regulation of fatty acid beta-oxidation (GO:0031999)|negative regulation of mast cell activation (GO:0033004)|negative regulation of nitric-oxide synthase activity (GO:0051001)|positive regulation of acute inflammatory response to antigenic stimulus (GO:0002866)|positive regulation of apoptotic process (GO:0043065)|positive regulation of blood pressure (GO:0045777)|positive regulation of fever generation (GO:0031622)|positive regulation of neuron projection development (GO:0010976)|regulation of feeding behavior (GO:0060259)|regulation of insulin secretion (GO:0050796)|regulation of penile erection (GO:0060405)|regulation of synaptic transmission, GABAergic (GO:0032228)|regulation of synaptic transmission, glutamatergic (GO:0051966)|response to cocaine (GO:0042220)|response to ethanol (GO:0045471)|response to lipopolysaccharide (GO:0032496)|response to morphine (GO:0043278)|response to nicotine (GO:0035094)|response to nutrient (GO:0007584)|sensory perception of pain (GO:0019233)|spermatogenesis (GO:0007283)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cannabinoid receptor activity (GO:0004949)|drug binding (GO:0008144)			breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|prostate(1)|skin(10)|urinary_tract(1)	37		all_cancers(76;8.24e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;4.11e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.00011)		BRCA - Breast invasive adenocarcinoma(108;0.15)	Dronabinol(DB00470)|Nabilone(DB00486)|Rimonabant(DB06155)	TCACAAGAGGGAAACATGCTC	0.562																																						ENST00000537554.1																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|prostate(1)|skin(10)|urinary_tract(1)	37						c.(1237-1239)Ccc>Tcc		cannabinoid receptor 1 (brain)	Marinol(DB00470)|Nabilone(DB00486)|Rimonabant(DB06155)						163	147	152					6																	88853757		2203	4300	6503	SO:0001583	missense	0				G-protein signaling, coupled to cAMP nucleotide second messenger	integral to plasma membrane	cannabinoid receptor activity|protein binding	g.chr6:88853757G>A	AF107262	CCDS5015.1, CCDS5016.1, CCDS5016.2	6q14-q15	2012-08-08			ENSG00000118432	ENSG00000118432		"GPCR / Class A : Cannabinoid receptors"	2159	protein-coding gene	gene with protein product		114610		CNR			Standard	NM_016083		Approved	CB1K5, CB-R, CB1, CANN6, CB1A	uc003pmq.4	P21554	OTTHUMG00000015184	ENST00000537554.1:c.1237C>T	6.37:g.88853757G>A	ENSP00000441046:p.Pro413Ser					CNR1_ENST00000549890.1_Missense_Mutation_p.P413S|CNR1_ENST00000362094.5_3'UTR|CNR1_ENST00000369499.2_Missense_Mutation_p.P413S|CNR1_ENST00000369501.2_Missense_Mutation_p.P413S|CNR1_ENST00000468898.1_Missense_Mutation_p.P380S|CNR1_ENST00000535130.1_Missense_Mutation_p.P413S|CNR1_ENST00000428600.2_Missense_Mutation_p.P413S|CNR1_ENST00000549716.1_Missense_Mutation_p.P352S	p.P413S	NM_001160226.1|NM_001160258.1	NP_001153698.1|NP_001153730.1	P21554	CNR1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.15)	2	4799	-		all_cancers(76;8.24e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;4.11e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.00011)	413					B2R9T4|E1P512|Q13949|Q495Z0|Q4PLI4|Q4VBM6|Q5JVL5|Q5UB37|Q9UNN0	Missense_Mutation	SNP	ENST00000537554.1	37	c.1237C>T	CCDS5015.1	.	.	.	.	.	.	.	.	.	.	G	0.006	-2.078093	0.00375	.	.	ENSG00000118432	ENST00000369501;ENST00000535130;ENST00000537554;ENST00000369499;ENST00000549890;ENST00000468898;ENST00000428600;ENST00000549716	T;T;T;T;T;T;T;T	0.36157	1.27;1.27;1.27;1.27;1.27;1.27;1.27;1.27	5.94	5.07	0.68467	.	0.125415	0.53938	D	0.000051	T	0.09423	0.0232	N	0.19112	0.55	0.52099	D	0.999947	B;B	0.24426	0.103;0.008	B;B	0.25140	0.058;0.003	T	0.08310	-1.0728	10	0.02654	T	1	.	15.1709	0.72872	0.0675:0.0:0.9325:0.0	.	380;413	P21554-3;P21554	.;CNR1_HUMAN	S	413;413;413;413;413;380;413;352	ENSP00000358513:P413S;ENSP00000442689:P413S;ENSP00000441046:P413S;ENSP00000358511:P413S;ENSP00000446819:P413S;ENSP00000420188:P380S;ENSP00000412192:P413S;ENSP00000449549:P352S	ENSP00000358511:P413S	P	-	1	0	CNR1	88910476	1.000000	0.71417	1.000000	0.80357	0.015000	0.08874	6.421000	0.73353	1.518000	0.48934	-0.140000	0.14226	CCC		0.562	CNR1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354204.2			33	75	0	0	0	1	0	33	75					A	88853757	G	A	88853757	3	1	375	1	0	0	0	0	1	0	0	0	3631	1174	41	3	185	3	CNR1	6	88853757	Missense_Mutation	SNP	G	TCGA-V1-A8WL-01A-11D-A377-08	1127845	88853757	82261310	16	18537											
SPAM1	6677	broad.mit.edu	37	chr7	123594460	123594460	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agctgctacactctatgtgcGcaatcgagttcgggaagcca	10	9	11	11	3	1	0	0	0	1	0	3	2	1	1	1	1	5	4	1	1	4	3	rs532636427		TCGA-V1-A8WL-01A-11D-A377-08	TCGA-V1-A8WL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aca1a7-bdad-4b88-88b7-6c6f7bd62490	ea6da482-f7f1-4a1a-8380-b96418427d42	g.chr7:123594460G>A	ENST00000439500.1	+	4	1449	c.836G>A	c.(835-837)cGc>cAc	p.R279H	SPAM1_ENST00000340011.5_Missense_Mutation_p.R279H|SPAM1_ENST00000223028.7_Missense_Mutation_p.R279H|SPAM1_ENST00000460182.1_Missense_Mutation_p.R279H|SPAM1_ENST00000402183.2_Missense_Mutation_p.R279H	NM_001174045.1|NM_001174046.1	NP_001167516.1|NP_001167517.1	P38567	HYALP_HUMAN	sperm adhesion molecule 1 (PH-20 hyaluronidase, zona pellucida binding)	279					binding of sperm to zona pellucida (GO:0007339)|carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|fusion of sperm to egg plasma membrane (GO:0007342)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)	hyalurononglucosaminidase activity (GO:0004415)			breast(1)|cervix(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(23)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						CTCTATGTGCGCAATCGAGTT	0.428																																						ENST00000340011.5																			0				breast(1)|cervix(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(23)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						c.(835-837)cGc>cAc		sperm adhesion molecule 1 (PH-20 hyaluronidase, zona pellucida binding)	Hyaluronidase(DB00070)						97	90	92					7																	123594460		2203	4299	6502	SO:0001583	missense	0				binding of sperm to zona pellucida|carbohydrate metabolic process|cell adhesion|fusion of sperm to egg plasma membrane	anchored to membrane|plasma membrane	hyalurononglucosaminidase activity	g.chr7:123594460G>A	L13781	CCDS5790.1, CCDS5791.1	7q31	2008-05-02			ENSG00000106304	ENSG00000106304			11217	protein-coding gene	gene with protein product		600930				8282124, 8575780	Standard	NM_153189		Approved	HYAL5, PH-20, SPAG15	uc003vle.3	P38567	OTTHUMG00000157284	ENST00000439500.1:c.836G>A	7.37:g.123594460G>A	ENSP00000402123:p.Arg279His					SPAM1_ENST00000439500.1_Missense_Mutation_p.R279H|SPAM1_ENST00000402183.2_Missense_Mutation_p.R279H|SPAM1_ENST00000460182.1_Missense_Mutation_p.R279H|SPAM1_ENST00000223028.7_Missense_Mutation_p.R279H	p.R279H	NM_003117.4	NP_003108.2	P38567	HYALP_HUMAN			3	1193	+			279					Q8TC30	Missense_Mutation	SNP	ENST00000439500.1	37	c.836G>A	CCDS5791.1	.	.	.	.	.	.	.	.	.	.	G	34	5.362372	0.95877	.	.	ENSG00000106304	ENST00000402183;ENST00000460182;ENST00000340011;ENST00000439500;ENST00000223028	T;T;T;T;T	0.26223	1.75;1.75;1.75;1.75;1.75	6.17	6.17	0.99709	Aldolase-type TIM barrel (1);Glycoside hydrolase, superfamily (1);	0.000000	0.85682	D	0.000000	T	0.53465	0.1798	M	0.72624	2.21	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.39941	-0.9589	9	.	.	.	-31.722	19.8676	0.96824	0.0:0.0:1.0:0.0	.	279;279	Q8TC30;P38567	.;HYALP_HUMAN	H	279	ENSP00000386028:R279H;ENSP00000417934:R279H;ENSP00000345849:R279H;ENSP00000402123:R279H;ENSP00000223028:R279H	.	R	+	2	0	SPAM1	123381696	1.000000	0.71417	0.021000	0.16686	0.356000	0.29392	7.998000	0.88491	2.941000	0.99782	0.655000	0.94253	CGC		0.428	SPAM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000348309.1			4	104	0	0	0	1	0	4	104					A	123594460	G	A	123594460	3	1	375	1	0	0	0	0	1	0	0	0	14986	1087	38	1	838	1	SPAM1	7	123594460	Missense_Mutation	SNP	G	TCGA-V1-A8WL-01A-11D-A377-08		123594460	35544203	17	18538											
PRKDC	5591	broad.mit.edu	37	chr8	48776073	48776073	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgggaaggcgagaatacatCacgtctagaatcttatagta	14	11	10	6	2	3	2	1	0	2	2	3	4	3	3	0	2	1	1	0	2	8	6			TCGA-V1-A8WL-01A-11D-A377-08	TCGA-V1-A8WL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aca1a7-bdad-4b88-88b7-6c6f7bd62490	ea6da482-f7f1-4a1a-8380-b96418427d42	g.chr8:48776073C>A	ENST00000314191.2	-	43	5690	c.5634G>T	c.(5632-5634)gtG>gtT	p.V1878V	PRKDC_ENST00000338368.3_Silent_p.V1878V|PRKDC_ENST00000523565.1_5'UTR	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	1879					B cell lineage commitment (GO:0002326)|brain development (GO:0007420)|cellular protein modification process (GO:0006464)|cellular response to insulin stimulus (GO:0032869)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|ectopic germ cell programmed cell death (GO:0035234)|heart development (GO:0007507)|immunoglobulin V(D)J recombination (GO:0033152)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of protein phosphorylation (GO:0001933)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|pro-B cell differentiation (GO:0002328)|protein destabilization (GO:0031648)|regulation of circadian rhythm (GO:0042752)|response to gamma radiation (GO:0010332)|rhythmic process (GO:0048511)|signal transduction involved in mitotic G1 DNA damage checkpoint (GO:0072431)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell receptor V(D)J recombination (GO:0033153)|telomere maintenance (GO:0000723)	cytosol (GO:0005829)|DNA-dependent protein kinase-DNA ligase 4 complex (GO:0005958)|membrane (GO:0016020)|nonhomologous end joining complex (GO:0070419)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transcription factor binding (GO:0008134)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)			Caffeine(DB00201)	GAGAATACATCACGTCTAGAA	0.333								Non-homologous end-joining																													Esophageal Squamous(79;1091 1253 12329 31680 40677)	ENST00000314191.2																			0				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147						c.(5632-5634)gtG>gtT	Non-homologous end-joining	protein kinase, DNA-activated, catalytic polypeptide							168	166	166					8																	48776073		1847	4091	5938	SO:0001819	synonymous_variant	5591				cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding	g.chr8:48776073C>A		CCDS75734.1, CCDS75735.1	8q11	2014-09-17				ENSG00000253729	2.7.11.1		9413	protein-coding gene	gene with protein product		600899		HYRC, HYRC1		7638222	Standard	NM_001081640		Approved	DNPK1, p350, DNAPK, XRCC7, DNA-PKcs	uc003xqi.3	P78527		ENST00000314191.2:c.5634G>T	8.37:g.48776073C>A						PRKDC_ENST00000338368.3_Silent_p.V1878V|PRKDC_ENST00000523565.1_5'UTR	p.V1878V	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN			43	5690	-		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)	1879					P78528|Q13327|Q13337|Q14175|Q59H99|Q7Z611|Q96SE6|Q9UME3	Silent	SNP	ENST00000314191.2	37	c.5634G>T																																																																																					0.333	PRKDC-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001081640		35	70	1	0	3.21399e-22	1	3.87328e-22	35	70					A	48776073	C	A	48776073	2	1	375	1	0	0	0	0	0	0	0	1	12521	813	29	5		5	PRKDC	8	48776073	Silent	SNP	C	TCGA-V1-A8WL-01A-11D-A377-08		48776073	97587949	18	18539											
ASB6	140459	broad.mit.edu	37	chr9	132401543	132401543	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcgctgcaggcagggcaggCgctcaggctcctcgctggcc	4	5	17	15	3	1	0	1	0	0	0	3	0	2	0	2	6	1	7	2	6	0	0	rs372239131		TCGA-V1-A8WL-01A-11D-A377-08	TCGA-V1-A8WL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aca1a7-bdad-4b88-88b7-6c6f7bd62490	ea6da482-f7f1-4a1a-8380-b96418427d42	g.chr9:132401543C>T	ENST00000277458.4	-	4	614	c.449G>A	c.(448-450)cGc>cAc	p.R150H	ASB6_ENST00000450050.2_Missense_Mutation_p.R71H|ASB6_ENST00000277459.4_Intron|RP11-483H20.4_ENST00000455074.1_RNA	NM_017873.3	NP_060343.1	Q9NWX5	ASB6_HUMAN	ankyrin repeat and SOCS box containing 6	150					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)				NS(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)	15		Ovarian(14;0.00556)				GCAGGGCAGGCGCTCAGGCTC	0.652																																						ENST00000277458.4																			0				NS(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)	15						c.(448-450)cGc>cAc		ankyrin repeat and SOCS box containing 6		C	HIS/ARG,HIS/ARG,	0,4406		0,0,2203	66	68	67		449,449,	5.3	1	9		67	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,intron	ASB6	NM_001202403.1,NM_017873.3,NM_177999.2	29,29,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging,	150/393,150/422,	132401543	1,13005	2203	4300	6503	SO:0001583	missense	140459				intracellular signal transduction	cytoplasm		g.chr9:132401543C>T		CCDS6924.1, CCDS6925.1, CCDS75919.1	9q34.13	2013-01-10	2011-01-25		ENSG00000148331	ENSG00000148331		"Ankyrin repeat domain containing"	17181	protein-coding gene	gene with protein product		615051	"ankyrin repeat and SOCS box-containing 6"				Standard	NM_017873		Approved		uc004byf.2	Q9NWX5	OTTHUMG00000020787	ENST00000277458.4:c.449G>A	9.37:g.132401543C>T	ENSP00000277458:p.Arg150His					ASB6_ENST00000277459.4_Intron|ASB6_ENST00000450050.2_Missense_Mutation_p.R71H	p.R150H	NM_017873.3	NP_060343.1	Q9NWX5	ASB6_HUMAN			4	614	-		Ovarian(14;0.00556)	150					Q5SZB7|Q9BV15	Missense_Mutation	SNP	ENST00000277458.4	37	c.449G>A	CCDS6924.1	.	.	.	.	.	.	.	.	.	.	C	24.8	4.568431	0.86439	0.0	1.16E-4	ENSG00000148331	ENST00000277458;ENST00000450050	T;T	0.62639	0.01;0.01	5.3	5.3	0.74995	Ankyrin repeat-containing domain (4);	0.049176	0.85682	D	0.000000	T	0.56485	0.1988	N	0.02142	-0.665	0.53005	D	0.999962	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.77557	0.99;0.99;0.984	T	0.66224	-0.5977	10	0.25751	T	0.34	-41.7797	17.942	0.89028	0.0:1.0:0.0:0.0	.	71;150;150	B4DRC4;A8K9U2;Q9NWX5	.;.;ASB6_HUMAN	H	150;71	ENSP00000277458:R150H;ENSP00000416172:R71H	ENSP00000277458:R150H	R	-	2	0	ASB6	131441364	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.696000	0.68287	2.464000	0.83262	0.561000	0.74099	CGC		0.652	ASB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054594.1	NM_017873		25	69	0	0	0	1	0	25	69					T	132401543	C	T	132401543	3	4	375	1	0	0	0	0	1	0	0	0	1027	768	27	1	828	1	ASB6	9	132401543	Missense_Mutation	SNP	C	TCGA-V1-A8WL-01A-11D-A377-08		132401543	8811888	19	18540											
PTGDS	5730	broad.mit.edu	37	chr9	139874417	139874417	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gactggggcagcacctactcCgtgtcagtggtggagaccga	8	7	15	11	2	1	1	1	0	0	1	2	4	2	1	3	4	2	2	3	4	1	1			TCGA-V1-A8WL-01A-11D-A377-08	TCGA-V1-A8WL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aca1a7-bdad-4b88-88b7-6c6f7bd62490	ea6da482-f7f1-4a1a-8380-b96418427d42	g.chr9:139874417C>T	ENST00000371625.3	+	4	425	c.351C>T	c.(349-351)tcC>tcT	p.S117S	RP11-229P13.19_ENST00000413913.2_RNA|PTGDS_ENST00000224167.2_Silent_p.S151S	NM_000954.5	NP_000945.3	P41222	PTGDS_HUMAN	prostaglandin D2 synthase 21kDa (brain)	117					arachidonic acid metabolic process (GO:0019369)|cyclooxygenase pathway (GO:0019371)|prostaglandin biosynthetic process (GO:0001516)|regulation of circadian sleep/wake cycle, sleep (GO:0045187)|response to glucocorticoid (GO:0051384)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|rough endoplasmic reticulum (GO:0005791)	fatty acid binding (GO:0005504)|prostaglandin-D synthase activity (GO:0004667)|retinoid binding (GO:0005501)|transporter activity (GO:0005215)			endometrium(2)|kidney(1)|lung(3)|ovary(1)	7	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.19)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		GCACCTACTCCGTGTCAGTGG	0.632																																						ENST00000224167.2																			0				endometrium(2)|kidney(1)|lung(3)|ovary(1)	7						c.(451-453)tcC>tcT		prostaglandin D2 synthase 21kDa (brain)							96	99	98					9																	139874417		2203	4300	6503	SO:0001819	synonymous_variant	5730				prostaglandin biosynthetic process|regulation of circadian sleep/wake cycle, sleep	Golgi apparatus|nuclear membrane|perinuclear region of cytoplasm|rough endoplasmic reticulum	fatty acid binding|prostaglandin-D synthase activity|retinoid binding|transporter activity	g.chr9:139874417C>T	AA621632	CCDS7019.1	9q34.2-q34.3	2011-11-15	2002-08-29		ENSG00000107317	ENSG00000107317	5.3.99.2	"Lipocalins"	9592	protein-coding gene	gene with protein product	"lipocalin-type prostaglandin D synthase"	176803	"prostaglandin D2 synthase (21kD, brain)"			1902577	Standard	NM_000954		Approved	PGDS, L-PGDS	uc004cke.3	P41222	OTTHUMG00000020957	ENST00000371625.3:c.351C>T	9.37:g.139874417C>T						PTGDS_ENST00000371625.3_Silent_p.S117S	p.S151S			P41222	PTGDS_HUMAN	STAD - Stomach adenocarcinoma(284;0.19)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)	4	528	+	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0511)	117					B2R727|Q5SQ10|Q7M4P3|Q9UC22|Q9UCC9|Q9UCD9	Silent	SNP	ENST00000371625.3	37	c.453C>T	CCDS7019.1	.	.	.	.	.	.	.	.	.	.	c	5.877	0.345893	0.11126	.	.	ENSG00000107317	ENST00000446677	.	.	.	4.83	-9.66	0.00534	.	.	.	.	.	T	0.16769	0.0403	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.08700	-1.0709	4	.	.	.	-2.3179	4.1797	0.10369	0.2255:0.213:0.4371:0.1243	.	.	.	.	C	140	.	.	R	+	1	0	PTGDS	138994238	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.763000	0.01802	-3.482000	0.00155	-1.088000	0.02184	CGT		0.632	PTGDS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055188.1	NM_000954		6	127	0	0	0	1	0	6	127					T	139874417	C	T	139874417	2	4	375	1	0	0	0	0	0	0	0	1	12742	639	23	2		2	PTGDS	9	139874417	Silent	SNP	C	TCGA-V1-A8WL-01A-11D-A377-08	7472874	139874417	1339014	20	18541											
NELF	26012	broad.mit.edu	37	chr9	140347026	140347026	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aaggatgtcctcgaaggttgCgtgctcatggtcctggggac	7	10	15	9	2	1	0	1	0	0	0	4	3	3	2	2	5	2	2	2	5	2	1			TCGA-V1-A8WL-01A-11D-A377-08	TCGA-V1-A8WL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aca1a7-bdad-4b88-88b7-6c6f7bd62490	ea6da482-f7f1-4a1a-8380-b96418427d42	g.chr9:140347026C>T	ENST00000371475.3	-	11	1375	c.1144G>A	c.(1144-1146)Gca>Aca	p.A382T	NSMF_ENST00000371468.1_3'UTR|NSMF_ENST00000541195.1_Missense_Mutation_p.A179T|NSMF_ENST00000371482.1_Missense_Mutation_p.A46T|NSMF_ENST00000437259.1_Missense_Mutation_p.A359T|NSMF_ENST00000371473.3_Missense_Mutation_p.A352T|NSMF_ENST00000371472.2_Missense_Mutation_p.A380T|NSMF_ENST00000392812.4_Missense_Mutation_p.A359T|NSMF_ENST00000265663.7_Missense_Mutation_p.A380T|NSMF_ENST00000339554.3_Missense_Mutation_p.A179T|NSMF_ENST00000484316.1_5'UTR|NSMF_ENST00000371474.3_Missense_Mutation_p.A357T	NM_001130969.1	NP_001124441.1	Q6X4W1	NSMF_HUMAN	NMDA receptor synaptonuclear signaling and neuronal migration factor	382					cellular response to amino acid stimulus (GO:0071230)|cellular response to electrical stimulus (GO:0071257)|cellular response to gonadotropin stimulus (GO:0071371)|positive regulation of neuron migration (GO:2001224)|positive regulation of protein dephosphorylation (GO:0035307)|regulation of dendrite morphogenesis (GO:0048814)|regulation of neuron apoptotic process (GO:0043523)|regulation of neuronal synaptic plasticity (GO:0048168)	apical dendrite (GO:0097440)|cell junction (GO:0030054)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|membrane (GO:0016020)|neuron projection (GO:0043005)|nuclear envelope (GO:0005635)|nuclear euchromatin (GO:0005719)|nuclear matrix (GO:0016363)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|perikaryon (GO:0043204)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	calcium-dependent protein binding (GO:0048306)										TCGAAGGTTGCGTGCTCATGG	0.657																																						ENST00000371475.3																			0											c.(1144-1146)Gca>Aca		NMDA receptor synaptonuclear signaling and neuronal migration factor							60	56	57					9																	140347026		2196	4292	6488	SO:0001583	missense	26012							g.chr9:140347026C>T		CCDS7044.1, CCDS48067.1, CCDS48068.1, CCDS48069.1, CCDS55357.1	9q34.3	2013-01-14	2013-01-14	2013-01-14	ENSG00000165802	ENSG00000165802			29843	protein-coding gene	gene with protein product		608137	"nasal embryonic LHRH factor"	NELF		11230166, 10898796	Standard	NM_015537		Approved		uc004cna.3	Q6X4W1	OTTHUMG00000020989	ENST00000371475.3:c.1144G>A	9.37:g.140347026C>T	ENSP00000360530:p.Ala382Thr					NSMF_ENST00000371482.1_Missense_Mutation_p.A46T|NSMF_ENST00000541195.1_Missense_Mutation_p.A179T|NSMF_ENST00000339554.3_Missense_Mutation_p.A179T|NSMF_ENST00000371474.3_Missense_Mutation_p.A357T|NSMF_ENST00000392812.4_Missense_Mutation_p.A359T|NSMF_ENST00000484316.1_5'UTR|NSMF_ENST00000437259.1_Missense_Mutation_p.A359T|NSMF_ENST00000371473.3_Missense_Mutation_p.A352T|NSMF_ENST00000371472.2_Missense_Mutation_p.A380T|NSMF_ENST00000371468.1_3'UTR|NSMF_ENST00000265663.7_Missense_Mutation_p.A380T	p.A382T	NM_001130969.1	NP_001124441.1					11	1375	-								Q2TB96|Q6X4V7|Q6X4V8|Q6X4V9|Q8N2M2|Q96SY1|Q9NPM4|Q9NPP3|Q9NPS3	Missense_Mutation	SNP	ENST00000371475.3	37	c.1144G>A	CCDS48069.1	.	.	.	.	.	.	.	.	.	.	C	27.7	4.854417	0.91355	.	.	ENSG00000165802	ENST00000339554;ENST00000371475;ENST00000265663;ENST00000437259;ENST00000392812;ENST00000371474;ENST00000371473;ENST00000371482;ENST00000371472;ENST00000541195	T;T;T;T;T;T;T;T;T;T	0.45668	0.89;0.89;0.89;0.89;0.89;0.89;0.89;0.89;0.89;0.89	5.23	5.23	0.72850	.	0.000000	0.85682	D	0.000000	T	0.60327	0.2260	L	0.54323	1.7	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;0.999;0.999;1.0;1.0;1.0;1.0	D;P;D;D;D;D;D	0.81914	0.994;0.901;0.933;0.994;0.995;0.992;0.992	T	0.61520	-0.7046	10	0.59425	D	0.04	-11.0978	16.289	0.82738	0.0:1.0:0.0:0.0	.	359;179;133;357;352;382;380	Q6X4W1-3;F5GZW0;Q9NTU2;Q2TB96;Q6X4W1-4;Q6X4W1;Q6X4W1-2	.;.;.;.;.;NELF_HUMAN;.	T	179;382;380;359;359;357;352;46;380;179	ENSP00000342966:A179T;ENSP00000360530:A382T;ENSP00000265663:A380T;ENSP00000412007:A359T;ENSP00000376559:A359T;ENSP00000360529:A357T;ENSP00000360528:A352T;ENSP00000360537:A46T;ENSP00000360527:A380T;ENSP00000444177:A179T	ENSP00000265663:A380T	A	-	1	0	NELF	139466847	1.000000	0.71417	0.631000	0.29282	0.586000	0.36452	7.439000	0.80444	2.456000	0.83038	0.455000	0.32223	GCA		0.657	NSMF-204	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_015537		7	19	0	0	0	1	0	7	19					T	140347026	C	T	140347026	3	4	375	1	0	0	0	0	1	0	0	0	10332	768	27	1	472	1	NELF	9	140347026	Missense_Mutation	SNP	C	TCGA-V1-A8WL-01A-11D-A377-08	472609	140347026	866405	21	18542											
POLR3A	11128	broad.mit.edu	37	chr10	79781636	79781636	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	accctgttttcccttcaggcGttggacgaagcctctggtcc	5	12	10	14	2	2	0	1	0	1	0	4	2	4	1	4	3	1	2	4	3	1	4			TCGA-V1-A8WL-01A-11D-A377-08	TCGA-V1-A8WL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aca1a7-bdad-4b88-88b7-6c6f7bd62490	ea6da482-f7f1-4a1a-8380-b96418427d42	g.chr10:79781636G>A	ENST00000372371.3	-	7	1167	c.1030C>T	c.(1030-1032)Cgc>Tgc	p.R344C	POLR3A_ENST00000484760.1_5'Flank	NM_007055.3	NP_008986.2	O14802	RPC1_HUMAN	polymerase (RNA) III (DNA directed) polypeptide A, 155kDa	344					defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of type I interferon production (GO:0032481)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|DNA-directed RNA polymerase III complex (GO:0005666)|membrane (GO:0016020)|nucleoplasm (GO:0005654)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|ribonucleoside binding (GO:0032549)|zinc ion binding (GO:0008270)			breast(1)|endometrium(7)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	all_cancers(46;0.0356)|all_epithelial(25;0.00102)|Breast(12;0.00124)|Prostate(51;0.0095)		Epithelial(14;0.00161)|OV - Ovarian serous cystadenocarcinoma(4;0.00323)|all cancers(16;0.00646)			CCCTTCAGGCGTTGGACGAAG	0.527																																						ENST00000372371.3																			0				breast(1)|endometrium(7)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59						c.(1030-1032)Cgc>Tgc		polymerase (RNA) III (DNA directed) polypeptide A, 155kDa							65	65	65					10																	79781636		2203	4300	6503	SO:0001583	missense	11128				innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	DNA-directed RNA polymerase III complex	DNA binding|DNA-directed RNA polymerase activity|ribonucleoside binding|zinc ion binding	g.chr10:79781636G>A	AF021351	CCDS7354.1	10q22-q23	2013-01-21			ENSG00000148606	ENSG00000148606		"RNA polymerase subunits"	30074	protein-coding gene	gene with protein product		614258				9331371, 12391170	Standard	NM_007055		Approved	RPC1, RPC155, hRPC155	uc001jzn.3	O14802	OTTHUMG00000018550	ENST00000372371.3:c.1030C>T	10.37:g.79781636G>A	ENSP00000361446:p.Arg344Cys						p.R344C	NM_007055.3	NP_008986.2	O14802	RPC1_HUMAN	Epithelial(14;0.00161)|OV - Ovarian serous cystadenocarcinoma(4;0.00323)|all cancers(16;0.00646)		7	1167	-	all_cancers(46;0.0356)|all_epithelial(25;0.00102)|Breast(12;0.00124)|Prostate(51;0.0095)		344					Q8IW34|Q8TCW5	Missense_Mutation	SNP	ENST00000372371.3	37	c.1030C>T	CCDS7354.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.303657	0.81136	.	.	ENSG00000148606	ENST00000372371;ENST00000540842	T	0.30182	1.54	5.83	4.88	0.63580	RNA polymerase, N-terminal (1);RNA polymerase Rpb1, domain 1 (1);	0.000000	0.85682	D	0.000000	T	0.68421	0.2999	H	0.97829	4.085	0.80722	D	1	D	0.89917	1.0	D	0.74023	0.982	T	0.78856	-0.2039	9	.	.	.	-21.6339	12.221	0.54433	0.0:0.0:0.6728:0.3272	.	344	O14802	RPC1_HUMAN	C	344	ENSP00000361446:R344C	.	R	-	1	0	POLR3A	79451642	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	5.323000	0.65858	2.755000	0.94549	0.650000	0.86243	CGC		0.527	POLR3A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048923.1	NM_007055		15	29	0	0	0	1	0	15	29					A	79781636	G	A	79781636	3	1	375	1	0	0	0	0	1	0	0	0	12228	1145	40	1	3242	1	POLR3A	10	79781636	Missense_Mutation	SNP	G	TCGA-V1-A8WL-01A-11D-A377-08		79781636	55753111	22	18543											
WAPAL	23063	broad.mit.edu	37	chr10	88260094	88260094	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gatgctccttgggaggatttCgttttattggccctacagta	7	15	11	8	1	0	0	0	0	0	0	2	3	1	2	2	3	2	3	2	3	3	7			TCGA-V1-A8WL-01A-11D-A377-08	TCGA-V1-A8WL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aca1a7-bdad-4b88-88b7-6c6f7bd62490	ea6da482-f7f1-4a1a-8380-b96418427d42	g.chr10:88260094C>T	ENST00000298767.5	-	3	1378	c.906G>A	c.(904-906)acG>acA	p.T302T		NM_015045.2	NP_055860.1	Q7Z5K2	WAPL_HUMAN	wings apart-like homolog (Drosophila)	302	Mediates interaction with the cohesin complex.				mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of chromatin binding (GO:0035562)|negative regulation of DNA replication (GO:0008156)|negative regulation of sister chromatid cohesion (GO:0045875)|positive regulation of fibroblast proliferation (GO:0048146)|protein localization to chromatin (GO:0071168)|regulation of chromosome condensation (GO:0060623)|regulation of cohesin localization to chromatin (GO:0071922)|response to toxic substance (GO:0009636)|viral process (GO:0016032)	chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cohesin complex (GO:0008278)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|microtubule cytoskeleton (GO:0015630)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)				breast(2)|endometrium(2)|kidney(5)|large_intestine(6)|lung(13)|ovary(2)|stomach(1)	31						GGGAGGATTTCGTTTTATTGG	0.428																																						ENST00000298767.5																			0				breast(2)|endometrium(2)|kidney(5)|large_intestine(6)|lung(13)|ovary(2)|stomach(1)	31						c.(904-906)acG>acA		wings apart-like homolog (Drosophila)							139	128	131					10																	88260094		2203	4300	6503	SO:0001819	synonymous_variant	23063				cell division|interspecies interaction between organisms|mitosis|negative regulation of chromatin binding|negative regulation of DNA replication|negative regulation of sister chromatid cohesion|protein localization to chromatin|regulation of cohesin localization to chromatin	chromatin|cohesin complex|cytoplasm	protein binding	g.chr10:88260094C>T	AB065003	CCDS7375.1	10q23.31	2006-12-08	2006-03-16	2006-03-16	ENSG00000062650	ENSG00000062650			23293	protein-coding gene	gene with protein product	"friend of EBNA2"	610754	"KIAA0261"	KIAA0261		9039502, 17112726	Standard	XM_006717726		Approved	FOE, WAPL	uc001kdo.3	Q7Z5K2	OTTHUMG00000018651	ENST00000298767.5:c.906G>A	10.37:g.88260094C>T							p.T302T	NM_015045.2	NP_055860.1	Q7Z5K2	WAPL_HUMAN			3	1378	-			302			Mediates interaction with the cohesin complex.		A7E2B5|Q5VSK5|Q8IX10|Q92549	Silent	SNP	ENST00000298767.5	37	c.906G>A	CCDS7375.1																																																																																				0.428	WAPAL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049151.2	NM_015045		49	91	0	0	0	1	0	49	91					T	88260094	C	T	88260094	2	4	375	1	0	0	0	0	0	0	0	1	17245	871	31	2		2	WAPAL	10	88260094	Silent	SNP	C	TCGA-V1-A8WL-01A-11D-A377-08	8478458	88260094	47274653	23	18544											
GUCY1A2	2977	broad.mit.edu	37	chr11	106810250	106810250	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcacaaacggggtagacagtCgcagcaggaccctttcaaag	13	6	11	11	2	2	1	2	0	0	1	3	2	2	2	1	3	2	3	1	3	3	2			TCGA-V1-A8WL-01A-11D-A377-08	TCGA-V1-A8WL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aca1a7-bdad-4b88-88b7-6c6f7bd62490	ea6da482-f7f1-4a1a-8380-b96418427d42	g.chr11:106810250C>T	ENST00000526355.2	-	4	1610	c.1142G>A	c.(1141-1143)cGa>cAa	p.R381Q	GUCY1A2_ENST00000282249.2_Missense_Mutation_p.R381Q|GUCY1A2_ENST00000347596.2_Missense_Mutation_p.R381Q	NM_000855.2	NP_000846.1	P33402	GCYA2_HUMAN	guanylate cyclase 1, soluble, alpha 2	381					blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|positive regulation of cGMP biosynthetic process (GO:0030828)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|heme binding (GO:0020037)			breast(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(18)|liver(1)|lung(32)|ovary(1)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	74		all_epithelial(67;3.66e-05)|Melanoma(852;0.000382)|Acute lymphoblastic leukemia(157;0.001)|all_hematologic(158;0.0017)|Breast(348;0.026)|all_neural(303;0.068)		BRCA - Breast invasive adenocarcinoma(274;8.04e-05)|Epithelial(105;0.0036)|all cancers(92;0.0476)	Isosorbide Mononitrate(DB01020)|Nitric Oxide(DB00435)	GGTAGACAGTCGCAGCAGGAC	0.463																																						ENST00000526355.1																			0				breast(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(18)|liver(1)|lung(32)|ovary(1)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	74						c.(1141-1143)cGa>cAa		guanylate cyclase 1, soluble, alpha 2							93	94	94					11																	106810250		2201	4298	6499	SO:0001583	missense	2977				intracellular signal transduction|platelet activation	cytoplasm	GTP binding|guanylate cyclase activity|heme binding	g.chr11:106810250C>T	X63282	CCDS8335.1, CCDS58170.1	11q21-q22	2008-03-18			ENSG00000152402	ENSG00000152402	4.6.1.2		4684	protein-coding gene	gene with protein product		601244		GUC1A2		1683630	Standard	NM_000855		Approved	GC-SA2	uc001pjg.2	P33402	OTTHUMG00000166296	ENST00000526355.2:c.1142G>A	11.37:g.106810250C>T	ENSP00000431245:p.Arg381Gln					GUCY1A2_ENST00000347596.2_Missense_Mutation_p.R381Q|GUCY1A2_ENST00000282249.2_Missense_Mutation_p.R381Q	p.R381Q	NM_000855.2	NP_000846.1	P33402	GCYA2_HUMAN		BRCA - Breast invasive adenocarcinoma(274;8.04e-05)|Epithelial(105;0.0036)|all cancers(92;0.0476)	4	1610	-		all_epithelial(67;3.66e-05)|Melanoma(852;0.000382)|Acute lymphoblastic leukemia(157;0.001)|all_hematologic(158;0.0017)|Breast(348;0.026)|all_neural(303;0.068)	381					A1L4C4|B7ZLT5	Missense_Mutation	SNP	ENST00000526355.2	37	c.1142G>A	CCDS8335.1	.	.	.	.	.	.	.	.	.	.	C	28.6	4.936527	0.92458	.	.	ENSG00000152402	ENST00000526355;ENST00000282249;ENST00000347596	D;D;D	0.88664	-2.41;-2.41;-2.41	5.77	5.77	0.91146	Haem NO binding associated (1);	0.000000	0.42682	U	0.000680	D	0.92655	0.7666	L	0.46670	1.46	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.87578	0.995;0.95;0.998	D	0.91264	0.5039	10	0.37606	T	0.19	.	18.9594	0.92671	0.0:1.0:0.0:0.0	.	381;381;381	B7ZLT5;P33402-2;P33402	.;.;GCYA2_HUMAN	Q	381	ENSP00000431245:R381Q;ENSP00000282249:R381Q;ENSP00000344874:R381Q	ENSP00000282249:R381Q	R	-	2	0	GUCY1A2	106315460	1.000000	0.71417	0.997000	0.53966	0.993000	0.82548	7.818000	0.86416	2.726000	0.93360	0.591000	0.81541	CGA		0.463	GUCY1A2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389003.2			31	46	0	0	0	1	0	31	46					T	106810250	C	T	106810250	3	4	375	1	0	0	0	0	1	0	0	0	6893	884	31	2	1076	2	GUCY1A2	11	106810250	Missense_Mutation	SNP	C	TCGA-V1-A8WL-01A-11D-A377-08		106810250	28196266	24	18545											
ATM	472	broad.mit.edu	37	chr11	108199783	108199783	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggaaattatgatggagaaagTagtgatgagctaagaaatgg	17	9	14	1	0	0	5	0	3	0	2	0	7	0	6	0	3	1	2	0	3	6	3			TCGA-V1-A8WL-01A-11D-A377-08	TCGA-V1-A8WL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aca1a7-bdad-4b88-88b7-6c6f7bd62490	ea6da482-f7f1-4a1a-8380-b96418427d42	g.chr11:108199783T>C	ENST00000452508.2	+	50	7314	c.7125T>C	c.(7123-7125)agT>agC	p.S2375S	C11orf65_ENST00000525729.1_Intron|ATM_ENST00000278616.4_Silent_p.S2375S			Q13315	ATM_HUMAN	ATM serine/threonine kinase	2375	FAT. {ECO:0000255|PROSITE- ProRule:PRU00534}.				brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|DNA damage induced protein phosphorylation (GO:0006975)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|heart development (GO:0007507)|histone mRNA catabolic process (GO:0071044)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|lipoprotein catabolic process (GO:0042159)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of B cell proliferation (GO:0030889)|neuron apoptotic process (GO:0051402)|oocyte development (GO:0048599)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of neuron apoptotic process (GO:0043525)|pre-B cell allelic exclusion (GO:0002331)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reciprocal meiotic recombination (GO:0007131)|replicative senescence (GO:0090399)|response to hypoxia (GO:0001666)|response to ionizing radiation (GO:0010212)|signal transduction (GO:0007165)|signal transduction involved in mitotic G2 DNA damage checkpoint (GO:0072434)|somitogenesis (GO:0001756)|telomere maintenance (GO:0000723)	cytoplasmic vesicle (GO:0031410)|nucleoplasm (GO:0005654)|spindle (GO:0005819)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|histone serine kinase activity (GO:0035174)|protein complex binding (GO:0032403)|protein dimerization activity (GO:0046983)|protein N-terminus binding (GO:0047485)|protein serine/threonine kinase activity (GO:0004674)			NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	Caffeine(DB00201)	ATGGAGAAAGTAGTGATGAGC	0.323			"D, Mis, N, F, S"		T-PLL	"leukemia, lymphoma, medulloblastoma, glioma"		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)																												ENST00000278616.4			yes	Rec	yes	Ataxia-telangiectasia	11	11q22.3	472	"D, Mis, N, F, S"	ataxia telangiectasia mutated			"L, O"		"leukemia, lymphoma, medulloblastoma, glioma"	T-PLL		0				NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448						c.(7123-7125)agT>agC	Genes defective in diseases associated with sensitivity to DNA damaging agents	ataxia telangiectasia mutated							67	71	69					11																	108199783		2201	4298	6499	SO:0001819	synonymous_variant	472	Ataxia Telangiectasia	Familial Cancer Database	AT, Louis-Bar syndrome	cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding	g.chr11:108199783T>C	AB209133	CCDS31669.1	11q22-q23	2014-09-17	2014-06-17		ENSG00000149311	ENSG00000149311			795	protein-coding gene	gene with protein product	"TEL1, telomere maintenance 1, homolog (S. cerevisiae)"	607585	"ataxia telangiectasia mutated (includes complementation groups A, C and D)", "ataxia telangiectasia mutated"	ATA, ATDC, ATC, ATD			Standard	XM_005271561		Approved	TEL1, TELO1	uc001pkb.1	Q13315	OTTHUMG00000166480	ENST00000452508.2:c.7125T>C	11.37:g.108199783T>C		TSP Lung(14;0.12)				C11orf65_ENST00000525729.1_Intron|ATM_ENST00000452508.2_Silent_p.S2375S	p.S2375S	NM_000051.3	NP_000042.3	Q13315	ATM_HUMAN		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	49	7510	+		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)	2375			FAT.		B2RNX5|O15429|Q12758|Q16551|Q93007|Q9NP02|Q9UCX7	Silent	SNP	ENST00000452508.2	37	c.7125T>C	CCDS31669.1																																																																																				0.323	ATM-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389938.1	NM_000051		17	27	0	0	0	1	0	17	27					C	108199783	T	C	108199783	2	2	375	1	0	0	0	0	0	0	0	1	1109	1635	57	4		4	ATM	11	108199783	Silent	SNP	T	TCGA-V1-A8WL-01A-11D-A377-08	1389533	108199783	26806733	25	18546											
CUL4A	8451	broad.mit.edu	37	chr13	113887612	113887612	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcggcgaggccgtggaccggAgcctgttgcggagcctcctg	4	6	18	13	5	0	0	0	0	0	0	1	4	1	3	5	5	3	1	5	5	0	1			TCGA-V1-A8WL-01A-11D-A377-08	TCGA-V1-A8WL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aca1a7-bdad-4b88-88b7-6c6f7bd62490	ea6da482-f7f1-4a1a-8380-b96418427d42	g.chr13:113887612A>C	ENST00000375440.4	+	6	718	c.634A>C	c.(634-636)Agc>Cgc	p.S212R	CUL4A_ENST00000451881.1_Missense_Mutation_p.S112R|CUL4A_ENST00000375441.3_Missense_Mutation_p.S112R|CUL4A_ENST00000326335.4_Missense_Mutation_p.S112R	NM_001008895.1	NP_001008895.1	Q13619	CUL4A_HUMAN	cullin 4A	212					cell cycle arrest (GO:0007050)|DNA repair (GO:0006281)|G1/S transition of mitotic cell cycle (GO:0000082)|hemopoiesis (GO:0030097)|intrinsic apoptotic signaling pathway (GO:0097193)|negative regulation of cell proliferation (GO:0008285)|negative regulation of granulocyte differentiation (GO:0030853)|positive regulation of cell proliferation (GO:0008284)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination (GO:0016567)|regulation of DNA damage checkpoint (GO:2000001)|regulation of nucleotide-excision repair (GO:2000819)|regulation of protein metabolic process (GO:0051246)|somatic stem cell maintenance (GO:0035019)|viral process (GO:0016032)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|Cul4A-RING E3 ubiquitin ligase complex (GO:0031464)				NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|large_intestine(5)|lung(5)|skin(1)	17	Lung NSC(43;0.0161)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0482)|all_epithelial(44;0.0148)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188)	all cancers(43;0.112)			CGTGGACCGGAGCCTGTTGCG	0.542																																						ENST00000451881.1																			0				NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|large_intestine(5)|lung(5)|skin(1)	17						c.(334-336)Agc>Cgc		cullin 4A							77	70	72					13																	113887612		2203	4300	6503	SO:0001583	missense	8451				cell cycle arrest|DNA repair|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|ubiquitin-dependent protein catabolic process	Cul4A-RING ubiquitin ligase complex	ubiquitin protein ligase binding	g.chr13:113887612A>C	U58090	CCDS9533.1, CCDS41908.1, CCDS73604.1	13q34	2011-05-24			ENSG00000139842	ENSG00000139842			2554	protein-coding gene	gene with protein product		603137				8681378	Standard	NM_001008895		Approved		uc021rmv.1	Q13619	OTTHUMG00000017384	ENST00000375440.4:c.634A>C	13.37:g.113887612A>C	ENSP00000364589:p.Ser212Arg					CUL4A_ENST00000326335.4_Missense_Mutation_p.S112R|CUL4A_ENST00000375440.4_Missense_Mutation_p.S212R|CUL4A_ENST00000375441.3_Missense_Mutation_p.S112R	p.S112R	NM_001278513.1|NM_003589.2	NP_001265442.1|NP_003580.1	Q13619	CUL4A_HUMAN	all cancers(43;0.112)		6	583	+	Lung NSC(43;0.0161)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0482)|all_epithelial(44;0.0148)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188)	212					A2A2W2|O75834|Q589T6|Q5TC62|Q6UP08|Q9UP17	Missense_Mutation	SNP	ENST00000375440.4	37	c.334A>C	CCDS41908.1	.	.	.	.	.	.	.	.	.	.	A	25.0	4.592169	0.86953	.	.	ENSG00000139842	ENST00000375441;ENST00000451881;ENST00000326335;ENST00000375440	T;T;T;T	0.77750	-1.12;-1.12;-1.12;-1.12	4.5	4.5	0.54988	Cullin, N-terminal (1);Cullin repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.78868	0.4351	M	0.69463	2.115	0.80722	D	1	B;B	0.33022	0.394;0.221	B;B	0.41946	0.371;0.265	T	0.75172	-0.3411	10	0.21014	T	0.42	-30.1722	14.1231	0.65203	1.0:0.0:0.0:0.0	.	212;212	Q13619;A8MSH7	CUL4A_HUMAN;.	R	112;112;112;212	ENSP00000364590:S112R;ENSP00000389118:S112R;ENSP00000322132:S112R;ENSP00000364589:S212R	ENSP00000322132:S112R	S	+	1	0	CUL4A	112935613	1.000000	0.71417	0.922000	0.36590	0.991000	0.79684	9.042000	0.93793	1.781000	0.52344	0.459000	0.35465	AGC		0.542	CUL4A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045888.3	NM_003589		13	41	0	0	0	1	0	13	41					C	113887612	A	C	113887612	3	2	375	1	0	0	0	0	1	0	0	0	4057	304	11	5	656	5	CUL4A	13	113887612	Missense_Mutation	SNP	A	TCGA-V1-A8WL-01A-11D-A377-08		113887612	1282266	26	18547											
TLE3	7090	broad.mit.edu	37	chr15	70352868	70352868	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gccatggcgccttggacgtaCgtatcggctcaagctgtcct	6	10	12	13	4	1	0	1	0	0	0	3	1	2	1	3	3	2	4	3	3	3	3			TCGA-V1-A8WL-01A-11D-A377-08	TCGA-V1-A8WL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aca1a7-bdad-4b88-88b7-6c6f7bd62490	ea6da482-f7f1-4a1a-8380-b96418427d42	g.chr15:70352868C>T	ENST00000558939.1	-	9	2092		c.e9+1		TLE3_ENST00000559048.1_Splice_Site|TLE3_ENST00000451782.2_Splice_Site|TLE3_ENST00000539550.1_Splice_Site|TLE3_ENST00000559191.1_Intron|TLE3_ENST00000317509.8_Splice_Site|TLE3_ENST00000557907.1_Splice_Site|TLE3_ENST00000560939.1_Splice_Site|TLE3_ENST00000560589.1_Splice_Site|TLE3_ENST00000559929.1_Splice_Site|TLE3_ENST00000442299.2_Splice_Site|TLE3_ENST00000557997.1_Splice_Site|TLE3_ENST00000440567.3_Splice_Site|TLE3_ENST00000558379.1_Splice_Site|TLE3_ENST00000558201.1_Splice_Site	NM_001282979.1|NM_001282980.1|NM_001282981.1	NP_001269908.1|NP_001269909.1|NP_001269910.1	Q04726	TLE3_HUMAN	transducin-like enhancer of split 3						Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)				breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						CTTGGACGTACGTATCGGCTC	0.627																																						ENST00000558939.1																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						c.e9+1		transducin-like enhancer of split 3 (E(sp1) homolog, Drosophila)							67	69	69					15																	70352868		2050	4190	6240	SO:0001630	splice_region_variant	7090				organ morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway	nucleus	protein binding	g.chr15:70352868C>T	M99438	CCDS45293.1, CCDS45294.1, CCDS58375.1, CCDS61689.1, CCDS61691.1, CCDS61692.1, CCDS73747.1	15q22	2014-03-07	2014-03-07			ENSG00000140332		"WD repeat domain containing"	11839	protein-coding gene	gene with protein product		600190	"transducin-like enhancer of split 3, homolog of Drosophila E(sp1)", "transducin-like enhancer of split 3 (E(sp1) homolog, Drosophila)"			8365415	Standard	XM_005254623		Approved	ESG, ESG3, KIAA1547, HsT18976, GRG3	uc002asm.2	Q04726		ENST00000558939.1:c.714+1G>A	15.37:g.70352868C>T						TLE3_ENST00000451782.2_Splice_Site|TLE3_ENST00000442299.2_Splice_Site|TLE3_ENST00000560939.1_Splice_Site|TLE3_ENST00000317509.8_Splice_Site|TLE3_ENST00000558379.1_Splice_Site|TLE3_ENST00000557997.1_Splice_Site|TLE3_ENST00000559191.1_Intron|TLE3_ENST00000559048.1_Splice_Site|TLE3_ENST00000559929.1_Splice_Site|TLE3_ENST00000440567.3_Splice_Site|TLE3_ENST00000539550.1_Splice_Site|TLE3_ENST00000560589.1_Splice_Site|TLE3_ENST00000558201.1_Splice_Site|TLE3_ENST00000557907.1_Splice_Site				Q04726	TLE3_HUMAN			9	2092	-								B4DPT0|E9PD64|F8W964|Q6PI57|Q8IVV6|Q8WVR2|Q9HCM5	Splice_Site	SNP	ENST00000558939.1	37		CCDS45293.1	.	.	.	.	.	.	.	.	.	.	C	14.62	2.590025	0.46214	.	.	ENSG00000140332	ENST00000442299;ENST00000451782;ENST00000317509;ENST00000440567;ENST00000539550	.	.	.	5.32	5.32	0.75619	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.6078	0.91272	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TLE3	68139922	1.000000	0.71417	0.986000	0.45419	0.088000	0.18126	7.726000	0.84824	2.481000	0.83766	0.655000	0.94253	.		0.627	TLE3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000416913.1	NM_005078	Intron	21	32	0	0	0	1	0	21	32					T	70352868	C	T	70352868	5	4	375	1	0	0	0	0	0	0	1	0	15937	550	19	1	1651	1	TLE3	15	70352868	Splice_Site	SNP	C	TCGA-V1-A8WL-01A-11D-A377-08		70352868	32178524	27	18548											
KRTAP1-5	83895	broad.mit.edu	37	chr17	39183231	39183231	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cagcagcttggctggcagcaActggagctgcaggtcccact	8	7	13	13	0	0	0	0	0	0	0	1	1	1	1	1	4	6	7	1	4	1	1			TCGA-V1-A8WL-01A-11D-A377-08	TCGA-V1-A8WL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aca1a7-bdad-4b88-88b7-6c6f7bd62490	ea6da482-f7f1-4a1a-8380-b96418427d42	g.chr17:39183231A>G	ENST00000361883.5	-	1	223	c.177T>C	c.(175-177)agT>agC	p.S59S		NM_031957.1	NP_114163.1	Q9BYS1	KRA15_HUMAN	keratin associated protein 1-5	59	15 X 5 AA repeats of C-C-[QEPVRC]- [TPIVLE]-[SRHVP].					keratin filament (GO:0045095)				central_nervous_system(1)|endometrium(2)|kidney(1)|lung(9)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	17		Breast(137;0.00043)	STAD - Stomach adenocarcinoma(17;0.000371)			GCTGGCAGCAACTGGAGCTGC	0.617																																						ENST00000361883.5																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|lung(9)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	17						c.(175-177)agT>agC		keratin associated protein 1-5							35	41	39					17																	39183231		2035	4208	6243	SO:0001819	synonymous_variant	83895					keratin filament		g.chr17:39183231A>G	AJ406928	CCDS42321.1	17q21.2	2013-06-25			ENSG00000221852	ENSG00000221852		"Keratin associated proteins"	16777	protein-coding gene	gene with protein product		608822				11279113	Standard	NM_031957		Approved	KAP1.5	uc002hvu.3	Q9BYS1	OTTHUMG00000133587	ENST00000361883.5:c.177T>C	17.37:g.39183231A>G							p.S59S	NM_031957.1	NP_114163.1	Q9BYS1	KRA15_HUMAN	STAD - Stomach adenocarcinoma(17;0.000371)		1	223	-		Breast(137;0.00043)	59			15 X 5 AA repeats of C-C-[QEPVRC]- [TPIVLE]-[SRHVP].		A6NJW6|A6NLZ6|B6ZDR1|Q52LP6	Silent	SNP	ENST00000361883.5	37	c.177T>C	CCDS42321.1																																																																																				0.617	KRTAP1-5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257691.1			3	55	0	0	0	1	0	3	55					G	39183231	A	G	39183231	2	3	375	1	0	0	0	0	0	0	0	1	8504	40	2	4		4	KRTAP1-5	17	39183231	Silent	SNP	A	TCGA-V1-A8WL-01A-11D-A377-08		39183231	42011979	28	18549											
RTTN	25914	broad.mit.edu	37	chr18	67727116	67727116	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gttctatgagatgagcttgtCgaaaagcctttgcagtgtct	9	14	11	7	1	2	2	0	2	2	1	3	4	2	2	1	0	3	3	1	0	3	4			TCGA-V1-A8WL-01A-11D-A377-08	TCGA-V1-A8WL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aca1a7-bdad-4b88-88b7-6c6f7bd62490	ea6da482-f7f1-4a1a-8380-b96418427d42	g.chr18:67727116C>T	ENST00000255674.6	-	36	5196	c.4910G>A	c.(4909-4911)cGa>cAa	p.R1637Q	RTTN_ENST00000454359.1_3'UTR	NM_173630.3	NP_775901.3	Q86VV8	RTTN_HUMAN	rotatin	1637					determination of left/right symmetry (GO:0007368)	ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)				NS(1)|breast(3)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(35)|ovary(4)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Esophageal squamous(42;0.129)				ATGAGCTTGTCGAAAAGCCTT	0.403																																						ENST00000255674.6																			0				NS(1)|breast(3)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(35)|ovary(4)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	80						c.(4909-4911)cGa>cAa		rotatin							80	82	81					18																	67727116		1885	4112	5997	SO:0001583	missense	25914						binding	g.chr18:67727116C>T	AL117635	CCDS42443.1	18q22.1	2008-08-01				ENSG00000176225			18654	protein-coding gene	gene with protein product		610436				11900971	Standard	NM_173630		Approved	DKFZP434G145	uc002lkp.2	Q86VV8		ENST00000255674.6:c.4910G>A	18.37:g.67727116C>T	ENSP00000255674:p.Arg1637Gln					RTTN_ENST00000454359.1_3'UTR	p.R1637Q	NM_173630.3	NP_775901.3	Q86VV8	RTTN_HUMAN			36	5196	-		Esophageal squamous(42;0.129)	1637					Q68CS9|Q6ZRL8|Q6ZTK3|Q86TG4|Q8N8N8|Q8TBQ4|Q96IN9|Q9UFJ4	Missense_Mutation	SNP	ENST00000255674.6	37	c.4910G>A	CCDS42443.1	.	.	.	.	.	.	.	.	.	.	c	10.12	1.262052	0.23051	.	.	ENSG00000176225	ENST00000255674	T	0.51574	0.7	5.66	-2.24	0.06909	Armadillo-like helical (1);	1.089020	0.06824	N	0.792790	T	0.27349	0.0671	N	0.19112	0.55	0.18873	N	0.999989	B	0.23058	0.079	B	0.14023	0.01	T	0.18808	-1.0325	10	0.20046	T	0.44	.	6.6872	0.23152	0.0:0.1995:0.1493:0.6513	.	1637	Q86VV8	RTTN_HUMAN	Q	1637	ENSP00000255674:R1637Q	ENSP00000255674:R1637Q	R	-	2	0	RTTN	65878096	0.000000	0.05858	0.001000	0.08648	0.035000	0.12851	-0.374000	0.07484	-0.252000	0.09528	-0.127000	0.14921	CGA		0.403	RTTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442988.1	NM_173630		9	10	0	0	0	1	0	9	10					T	67727116	C	T	67727116	3	4	375	1	0	0	0	0	1	0	0	0	13737	884	31	2	1826	2	RTTN	18	67727116	Missense_Mutation	SNP	C	TCGA-V1-A8WL-01A-11D-A377-08		67727116	10350132	29	18550											
LTBP4	8425	broad.mit.edu	37	chr19	41117233	41117233	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cccggccgctgtgacaacacGgcaggctcctttcactgtgc	6	8	11	16	3	1	1	1	1	0	0	2	1	2	1	3	3	2	3	3	3	1	1			TCGA-V1-A8WL-01A-11D-A377-08	TCGA-V1-A8WL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aca1a7-bdad-4b88-88b7-6c6f7bd62490	ea6da482-f7f1-4a1a-8380-b96418427d42	g.chr19:41117233G>T	ENST00000308370.7	+	16	2187	c.2187G>T	c.(2185-2187)acG>acT	p.T729T	LTBP4_ENST00000204005.9_Silent_p.T692T|LTBP4_ENST00000545697.1_Silent_p.T182T|LTBP4_ENST00000243562.9_5'Flank|LTBP4_ENST00000396819.3_Silent_p.T662T|LTBP4_ENST00000602240.1_3'UTR	NM_001042544.1	NP_001036009.1	Q8N2S1	LTBP4_HUMAN	latent transforming growth factor beta binding protein 4	729	Cys-rich.|EGF-like 7; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				extracellular matrix organization (GO:0030198)|growth hormone secretion (GO:0030252)|multicellular organismal development (GO:0007275)|protein folding (GO:0006457)|regulation of cell differentiation (GO:0045595)|regulation of cell growth (GO:0001558)|regulation of proteolysis (GO:0030162)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|glycosaminoglycan binding (GO:0005539)|integrin binding (GO:0005178)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta-activated receptor activity (GO:0005024)			central_nervous_system(1)	1			Lung(22;0.000158)|LUSC - Lung squamous cell carcinoma(20;0.000384)			GTGACAACACGGCAGGCTCCT	0.697																																						ENST00000308370.7																			0				central_nervous_system(1)	1						c.(2185-2187)acG>acT		latent transforming growth factor beta binding protein 4							17	21	19					19																	41117233		1931	4125	6056	SO:0001819	synonymous_variant	8425				growth hormone secretion|multicellular organismal development|protein folding|regulation of cell differentiation|regulation of cell growth|regulation of proteolysis|regulation of transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|glycosaminoglycan binding|integrin binding|transforming growth factor beta binding|transforming growth factor beta receptor activity	g.chr19:41117233G>T	Y13622	CCDS74368.1, CCDS74369.1, CCDS74370.1	19q13.1-q13.2	2011-10-20				ENSG00000090006		"Latent transforming growth factor, beta binding proteins"	6717	protein-coding gene	gene with protein product		604710				9660815, 9271198	Standard	NM_003573		Approved	LTBP-4, LTBP-4L, FLJ46318, FLJ90018	uc002ooh.1	Q8N2S1		ENST00000308370.7:c.2187G>T	19.37:g.41117233G>T						LTBP4_ENST00000545697.1_Silent_p.T182T|LTBP4_ENST00000602240.1_3'UTR|LTBP4_ENST00000204005.9_Silent_p.T692T|LTBP4_ENST00000396819.3_Silent_p.T662T	p.T729T	NM_001042544.1	NP_001036009.1	Q8N2S1	LTBP4_HUMAN	Lung(22;0.000158)|LUSC - Lung squamous cell carcinoma(20;0.000384)		16	2187	+			729			Cys-rich.|EGF-like 7; calcium-binding (Potential).		O00508|O75412|O75413	Silent	SNP	ENST00000308370.7	37	c.2187G>T																																																																																					0.697	LTBP4-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_003573		6	16	1	0	3.59834e-05	1	3.75826e-05	6	16					T	41117233	G	T	41117233	2	4	375	1	0	0	0	0	0	0	0	1	9076	1103	39	5		5	LTBP4	19	41117233	Silent	SNP	G	TCGA-V1-A8WL-01A-11D-A377-08		41117233	18011750	30	18551											
PPP5C	5536	broad.mit.edu	37	chr19	46891954	46891954	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acgaggtggctcacggaggcCgctgtgtcaccgtcttctct	5	10	13	13	4	4	0	2	0	2	0	5	2	4	1	2	4	0	2	2	4	0	1	rs376107784	byFrequency	TCGA-V1-A8WL-01A-11D-A377-08	TCGA-V1-A8WL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aca1a7-bdad-4b88-88b7-6c6f7bd62490	ea6da482-f7f1-4a1a-8380-b96418427d42	g.chr19:46891954C>T	ENST00000012443.4	+	11	1424	c.1321C>T	c.(1321-1323)Cgc>Tgc	p.R441C	AC007193.8_ENST00000598616.1_RNA|PPP5C_ENST00000391919.1_Missense_Mutation_p.R313C	NM_006247.3	NP_006238.1	P53041	PPP5_HUMAN	protein phosphatase 5, catalytic subunit	441	Catalytic.				cell death (GO:0008219)|DNA repair (GO:0006281)|mitotic nuclear division (GO:0007067)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|protein dephosphorylation (GO:0006470)|protein heterooligomerization (GO:0051291)|response to morphine (GO:0043278)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	identical protein binding (GO:0042802)|lipid binding (GO:0008289)|metal ion binding (GO:0046872)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|RNA binding (GO:0003723)|signal transducer activity (GO:0004871)			endometrium(4)|kidney(1)|large_intestine(5)|liver(2)|lung(4)|ovary(1)|pancreas(1)	18		Ovarian(192;0.0731)|all_neural(266;0.196)		OV - Ovarian serous cystadenocarcinoma(262;0.000196)|all cancers(93;0.00192)|GBM - Glioblastoma multiforme(486;0.0499)|Epithelial(262;0.0504)		TCACGGAGGCCGCTGTGTCAC	0.557													C|||	2	0.000399361	0	0	5008	,	,		18294	0.002		0	False		,,,				2504	0					ENST00000012443.4																			0				endometrium(4)|kidney(1)|large_intestine(5)|liver(2)|lung(4)|ovary(1)|pancreas(1)	18						c.(1321-1323)Cgc>Tgc		protein phosphatase 5, catalytic subunit		C	CYS/ARG,CYS/ARG	0,4406		0,0,2203	120	106	111		1255,1321	4	1	19		111	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	PPP5C	NM_001204284.1,NM_006247.3	180,180	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging	419/478,441/500	46891954	1,13005	2203	4300	6503	SO:0001583	missense	5536				mitosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein dephosphorylation|transcription, DNA-dependent	Golgi apparatus|nucleus	metal ion binding|protein binding|protein serine/threonine phosphatase activity|signal transducer activity	g.chr19:46891954C>T		CCDS12684.1	19q13.3	2013-01-10			ENSG00000011485	ENSG00000011485	3.1.3.16	"Serine/threonine phosphatases / Protein phosphatase, catalytic subunits", "Tetratricopeptide (TTC) repeat domain containing"	9322	protein-coding gene	gene with protein product		600658		PPP5		8666404	Standard	NM_006247		Approved	PP5	uc002pem.3	P53041	OTTHUMG00000134287	ENST00000012443.4:c.1321C>T	19.37:g.46891954C>T	ENSP00000012443:p.Arg441Cys					PPP5C_ENST00000391919.1_Missense_Mutation_p.R313C	p.R441C	NM_006247.3	NP_006238.1	P53041	PPP5_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000196)|all cancers(93;0.00192)|GBM - Glioblastoma multiforme(486;0.0499)|Epithelial(262;0.0504)	11	1424	+		Ovarian(192;0.0731)|all_neural(266;0.196)	441			Catalytic.		Q16722|Q53XV2	Missense_Mutation	SNP	ENST00000012443.4	37	c.1321C>T	CCDS12684.1	.	.	.	.	.	.	.	.	.	.	C	16.88	3.245834	0.59103	0.0	1.16E-4	ENSG00000011485	ENST00000012443;ENST00000451918;ENST00000391919	D;D	0.83591	-1.74;-1.74	5.09	4.02	0.46733	Serine/threonine-specific protein phosphatase/bis(5-nucleosyl)-tetraphosphatase (2);	0.220451	0.36482	N	0.002571	D	0.84723	0.5535	M	0.90542	3.125	0.52501	D	0.999955	D;D	0.65815	0.992;0.995	B;P	0.46049	0.433;0.502	D	0.86303	0.1681	10	0.87932	D	0	-19.8029	5.1405	0.14955	0.2563:0.6361:0.0:0.1076	.	441;441	B2R6R6;P53041	.;PPP5_HUMAN	C	441;428;313	ENSP00000012443:R441C;ENSP00000375786:R313C	ENSP00000012443:R441C	R	+	1	0	PPP5C	51583794	1.000000	0.71417	1.000000	0.80357	0.514000	0.34195	3.142000	0.50601	2.367000	0.80283	0.561000	0.74099	CGC		0.557	PPP5C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258969.2	NM_006247		32	55	0	0	0	1	0	32	55					T	46891954	C	T	46891954	3	4	375	1	0	0	0	0	1	0	0	0	12406	652	23	2	1363	2	PPP5C	19	46891954	Missense_Mutation	SNP	C	TCGA-V1-A8WL-01A-11D-A377-08	5774721	46891954	12237029	31	18552											
LAIR1	3903	broad.mit.edu	37	chr19	54872560	54872560	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aggtagtcactctgctcagaCcatttagggggcttataata	11	12	10	8	0	3	1	2	0	1	1	3	1	3	1	1	3	1	3	1	3	5	6			TCGA-V1-A8WL-01A-11D-A377-08	TCGA-V1-A8WL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aca1a7-bdad-4b88-88b7-6c6f7bd62490	ea6da482-f7f1-4a1a-8380-b96418427d42	g.chr19:54872560C>T	ENST00000391742.2	-	3	479	c.327G>A	c.(325-327)tgG>tgA	p.W109*	LAIR1_ENST00000463489.1_Intron|LAIR1_ENST00000313038.6_Nonsense_Mutation_p.W102*|LAIR1_ENST00000474878.1_Nonsense_Mutation_p.W108*|LAIR1_ENST00000348231.4_Nonsense_Mutation_p.W109*|LAIR1_ENST00000434277.2_Nonsense_Mutation_p.W108*|LAIR1_ENST00000391743.3_Nonsense_Mutation_p.W91*			Q6GTX8	LAIR1_HUMAN	leukocyte-associated immunoglobulin-like receptor 1	109	Ig-like C2-type.				immune system process (GO:0002376)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(9)|ovary(4)|prostate(1)|stomach(3)	26	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0573)		TCTGCTCAGACCATTTAGGGG	0.557																																						ENST00000391743.3																			0				breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(9)|ovary(4)|prostate(1)|stomach(3)	26						c.(271-273)tgG>tgA		leukocyte-associated immunoglobulin-like receptor 1							131	125	128					19																	54872560		2203	4300	6503	SO:0001587	stop_gained	3903					integral to membrane|plasma membrane	protein binding|receptor activity	g.chr19:54872560C>T	AF013249	CCDS12891.1, CCDS12892.1, CCDS74448.1, CCDS74449.1, CCDS74450.1	19q13.4	2013-01-29	2006-03-23		ENSG00000167613	ENSG00000167613		"Leukocyte-associated Ig like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6477	protein-coding gene	gene with protein product		602992	"leukocyte-associated Ig-like receptor 1"			9285412	Standard	XM_005258924		Approved	CD305	uc002qfk.1	Q6GTX8	OTTHUMG00000065545	ENST00000391742.2:c.327G>A	19.37:g.54872560C>T	ENSP00000375622:p.Trp109*					LAIR1_ENST00000391742.2_Nonsense_Mutation_p.W109*|LAIR1_ENST00000474878.1_Nonsense_Mutation_p.W108*|LAIR1_ENST00000434277.2_Nonsense_Mutation_p.W108*|LAIR1_ENST00000348231.4_Nonsense_Mutation_p.W109*|LAIR1_ENST00000313038.6_Nonsense_Mutation_p.W102*|LAIR1_ENST00000463489.1_Intron	p.W91*			Q6GTX8	LAIR1_HUMAN		GBM - Glioblastoma multiforme(193;0.0573)	2	553	-	Ovarian(34;0.19)		109			Ig-like C2-type.			Nonsense_Mutation	SNP	ENST00000391742.2	37	c.273G>A	CCDS12891.1	.	.	.	.	.	.	.	.	.	.	.	14.11	2.437406	0.43224	.	.	ENSG00000167613	ENST00000391743;ENST00000391742;ENST00000434277;ENST00000348231;ENST00000313038;ENST00000474878	.	.	.	3.01	0.819	0.18785	.	0.182519	0.27289	N	0.020057	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	5.4557	0.16590	0.2305:0.5457:0.2238:0.0	.	.	.	.	X	91;109;108;109;102;108	.	ENSP00000319204:W102X	W	-	3	0	LAIR1	59564372	0.642000	0.27260	0.070000	0.20053	0.107000	0.19398	0.274000	0.18680	0.316000	0.23135	0.644000	0.83932	TGG		0.557	LAIR1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000140506.1			32	95	0	0	0	1	0	32	95					T	54872560	C	T	54872560	4	4	375	1	0	0	0	0	0	1	0	0	8602	508	18	3	568	3	LAIR1	19	54872560	Nonsense_Mutation	SNP	C	TCGA-V1-A8WL-01A-11D-A377-08	7980606	54872560	4256423	32	18553											
NLRP9	338321	broad.mit.edu	37	chr19	56223890	56223890	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	agtttcagggtcttcagtttCccattgcaaataagaacagc	12	12	8	9	0	3	1	2	0	1	1	4	1	4	1	1	1	3	3	1	1	3	5			TCGA-V1-A8WL-01A-11D-A377-08	TCGA-V1-A8WL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aca1a7-bdad-4b88-88b7-6c6f7bd62490	ea6da482-f7f1-4a1a-8380-b96418427d42	g.chr19:56223890C>A	ENST00000332836.2	-	7	2595	c.2568G>T	c.(2566-2568)ggG>ggT	p.G856G	CTD-2611O12.7_ENST00000597680.1_RNA	NM_176820.2	NP_789790.2	Q7RTR0	NALP9_HUMAN	NLR family, pyrin domain containing 9	856						cytoplasm (GO:0005737)	ATP binding (GO:0005524)			NS(2)|breast(5)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(15)|lung(21)|ovary(2)|prostate(3)|skin(7)|urinary_tract(3)	74		Colorectal(82;0.000133)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.123)		TCTTCAGTTTCCCATTGCAAA	0.448																																						ENST00000332836.2																			0				NS(2)|breast(5)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(15)|lung(21)|ovary(2)|prostate(3)|skin(7)|urinary_tract(3)	74						c.(2566-2568)ggG>ggT		NLR family, pyrin domain containing 9							99	91	94					19																	56223890		2200	4293	6493	SO:0001819	synonymous_variant	338321					cytoplasm	ATP binding	g.chr19:56223890C>A	AY154464	CCDS12934.1	19q13.43	2006-12-08	2006-12-08	2006-12-08				"Nucleotide-binding domain and leucine rich repeat containing"	22941	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 9"	609663	"NACHT, leucine rich repeat and PYD containing 9"	NALP9		12563287	Standard	NM_176820		Approved	NOD6, PAN12, CLR19.1	uc002qly.3	Q7RTR0		ENST00000332836.2:c.2568G>T	19.37:g.56223890C>A							p.G856G	NM_176820.2	NP_789790.2	Q7RTR0	NALP9_HUMAN		GBM - Glioblastoma multiforme(193;0.123)	7	2595	-		Colorectal(82;0.000133)|Ovarian(87;0.133)	856					B2RN12|Q86W27	Silent	SNP	ENST00000332836.2	37	c.2568G>T	CCDS12934.1																																																																																				0.448	NLRP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453653.1	NM_176820		10	25	1	0	7.48243e-07	1	7.99259e-07	10	25					A	56223890	C	A	56223890	2	1	375	1	0	0	0	0	0	0	0	1	10484	842	30	5		5	NLRP9	19	56223890	Silent	SNP	C	TCGA-V1-A8WL-01A-11D-A377-08	1351330	56223890	2905093	33	18554											
DIDO1	11083	broad.mit.edu	37	chr20	61541166	61541166	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgttcctatacttgtacaaTcggtgccatcagcatctcca	9	14	6	12	1	2	0	1	0	1	0	5	0	3	0	3	1	4	3	3	1	4	6			TCGA-V1-A8WL-01A-11D-A377-08	TCGA-V1-A8WL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aca1a7-bdad-4b88-88b7-6c6f7bd62490	ea6da482-f7f1-4a1a-8380-b96418427d42	g.chr20:61541166T>C	ENST00000266070.4	-	4	1371	c.1046A>G	c.(1045-1047)gAt>gGt	p.D349G	DIDO1_ENST00000354665.4_Missense_Mutation_p.D349G|DIDO1_ENST00000370366.1_Missense_Mutation_p.D349G|DIDO1_ENST00000370371.4_Missense_Mutation_p.D349G|DIDO1_ENST00000395335.2_Missense_Mutation_p.D349G|DIDO1_ENST00000395340.1_Missense_Mutation_p.D349G|DIDO1_ENST00000395343.1_Missense_Mutation_p.D349G|DIDO1_ENST00000266071.5_Missense_Mutation_p.D349G|DIDO1_ENST00000370368.1_Missense_Mutation_p.D349G	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	349					apoptotic signaling pathway (GO:0097190)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					ACTTGTACAATCGGTGCCATC	0.463																																					Melanoma(25;381 482 3385 5362 7955 17159 17174 40604 47095)	ENST00000266070.4																			0				NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99						c.(1045-1047)gAt>gGt		death inducer-obliterator 1							205	185	192					20																	61541166		2203	4300	6503	SO:0001583	missense	11083				apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding	g.chr20:61541166T>C	AB002331	CCDS13508.2, CCDS13509.1, CCDS33506.1	20q13.33	2013-01-28	2005-11-11	2005-11-11	ENSG00000101191	ENSG00000101191		"Zinc fingers, PHD-type"	2680	protein-coding gene	gene with protein product		604140	"chromosome 20 open reading frame 158", "death associated transcription factor 1"	C20orf158, DATF1		10393935	Standard	NM_033081		Approved	DIO1, dJ885L7.8, FLJ11265, KIAA0333, DIO-1, BYE1	uc002ydr.2	Q9BTC0	OTTHUMG00000032945	ENST00000266070.4:c.1046A>G	20.37:g.61541166T>C	ENSP00000266070:p.Asp349Gly					DIDO1_ENST00000370371.4_Missense_Mutation_p.D349G|DIDO1_ENST00000370366.1_Missense_Mutation_p.D349G|DIDO1_ENST00000354665.4_Missense_Mutation_p.D349G|DIDO1_ENST00000395335.2_Missense_Mutation_p.D349G|DIDO1_ENST00000266071.5_Missense_Mutation_p.D349G|DIDO1_ENST00000395340.1_Missense_Mutation_p.D349G|DIDO1_ENST00000395343.1_Missense_Mutation_p.D349G|DIDO1_ENST00000370368.1_Missense_Mutation_p.D349G	p.D349G	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN			4	1371	-	Breast(26;5.68e-08)		349					A8MY65|B9EH82|E1P5I1|O15043|Q3ZTL7|Q3ZTL8|Q4VXS1|Q4VXS2|Q4VXV8|Q4VXV9|Q96D72|Q9BQW0|Q9BW03|Q9H4G6|Q9H4G7|Q9NTU8|Q9NUM8|Q9UFB6	Missense_Mutation	SNP	ENST00000266070.4	37	c.1046A>G	CCDS33506.1	.	.	.	.	.	.	.	.	.	.	T	11.19	1.564815	0.27915	.	.	ENSG00000101191	ENST00000266070;ENST00000395343;ENST00000395340;ENST00000395335;ENST00000370371;ENST00000370368;ENST00000354665;ENST00000370366;ENST00000266071	T;T;T;T;T;T;T;T;T	0.19394	2.99;2.99;2.63;2.63;2.15;2.15;2.15;2.15;2.15	5.35	4.22	0.49857	.	0.156070	0.29508	N	0.011958	T	0.19208	0.0461	L	0.57536	1.79	0.09310	N	0.999998	P;B;P;P	0.43826	0.818;0.452;0.573;0.666	B;B;B;B	0.36567	0.228;0.164;0.202;0.162	T	0.09952	-1.0651	10	0.29301	T	0.29	-20.1485	11.2771	0.49174	0.0:0.0:0.1529:0.8471	.	349;349;349;349	Q9BTC0-2;Q9BTC0-3;Q9BTC0-1;Q9BTC0	.;.;.;DIDO1_HUMAN	G	349	ENSP00000266070:D349G;ENSP00000378752:D349G;ENSP00000378749:D349G;ENSP00000378744:D349G;ENSP00000359397:D349G;ENSP00000359394:D349G;ENSP00000346692:D349G;ENSP00000359391:D349G;ENSP00000266071:D349G	ENSP00000266070:D349G	D	-	2	0	DIDO1	61011611	0.981000	0.34729	0.168000	0.22838	0.022000	0.10575	3.455000	0.52993	0.939000	0.37446	0.454000	0.30748	GAT		0.463	DIDO1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080091.2	NM_080796		30	68	0	0	0	1	0	30	68					C	61541166	T	C	61541166	3	2	375	1	0	0	0	0	1	0	0	0	4522	1435	50	4	5858	4	DIDO1	20	61541166	Missense_Mutation	SNP	T	TCGA-V1-A8WL-01A-11D-A377-08		61541166	1484354	34	18555											
ALAS2	212	broad.mit.edu	37	chrX	55039950	55039950	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tccatcatctgagggctgtgGtggggggagggtgccaagcg	6	8	19	8	1	2	1	1	1	1	0	3	2	3	2	2	6	2	1	2	6	1	0			TCGA-V1-A8WL-01A-11D-A377-08	TCGA-V1-A8WL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aca1a7-bdad-4b88-88b7-6c6f7bd62490	ea6da482-f7f1-4a1a-8380-b96418427d42	g.chrX:55039950G>T	ENST00000330807.5	-	10	1706	c.1569C>A	c.(1567-1569)caC>caA	p.H523Q	ALAS2_ENST00000396198.3_Missense_Mutation_p.H510Q|ALAS2_ENST00000335854.4_Missense_Mutation_p.H486Q|ALAS2_ENST00000498636.1_Intron	NM_000032.4	NP_000023.2	P22557	HEM0_HUMAN	aminolevulinate, delta-, synthase 2	523					cellular iron ion homeostasis (GO:0006879)|erythrocyte differentiation (GO:0030218)|heme biosynthetic process (GO:0006783)|hemoglobin biosynthetic process (GO:0042541)|oxygen homeostasis (GO:0032364)|porphyrin-containing compound metabolic process (GO:0006778)|protoporphyrinogen IX biosynthetic process (GO:0006782)|response to hypoxia (GO:0001666)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	5-aminolevulinate synthase activity (GO:0003870)|coenzyme binding (GO:0050662)|glycine binding (GO:0016594)|pyridoxal phosphate binding (GO:0030170)			central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|prostate(2)|skin(1)	17					Glycine(DB00145)	GAGGGCTGTGGTGGGGGGAGG	0.572																																						ENST00000330807.5																			0				central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|prostate(2)|skin(1)	17						c.(1567-1569)caC>caA		aminolevulinate, delta-, synthase 2	Glycine(DB00145)						57	48	51					X																	55039950		2203	4300	6503	SO:0001583	missense	212				cellular iron ion homeostasis|erythrocyte differentiation|heme biosynthetic process|hemoglobin biosynthetic process|oxygen homeostasis|response to hypoxia	mitochondrial inner membrane|mitochondrial matrix	5-aminolevulinate synthase activity|coenzyme binding|glycine binding|protein binding|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups	g.chrX:55039950G>T		CCDS14366.1, CCDS35303.1, CCDS43960.1	Xp11.21	2008-02-05	2008-02-04		ENSG00000158578	ENSG00000158578	2.3.1.37		397	protein-coding gene	gene with protein product	"sideroblastic/hypochromic anemia"	301300	"aminolevulinate, delta-, synthase 2 (sideroblastic/hypochromic anemia)"	ASB		1577484	Standard	NM_000032		Approved		uc004dua.4	P22557	OTTHUMG00000021641	ENST00000330807.5:c.1569C>A	X.37:g.55039950G>T	ENSP00000332369:p.His523Gln					ALAS2_ENST00000396198.3_Missense_Mutation_p.H510Q|ALAS2_ENST00000335854.4_Missense_Mutation_p.H486Q|ALAS2_ENST00000498636.1_Intron	p.H523Q	NM_000032.4	NP_000023.2	P22557	HEM0_HUMAN			10	1706	-			523					A8K3F0|A8K6C4|Q13735|Q5JZF5|Q8N6H3	Missense_Mutation	SNP	ENST00000330807.5	37	c.1569C>A	CCDS14366.1	.	.	.	.	.	.	.	.	.	.	G	15.60	2.880685	0.51801	.	.	ENSG00000158578	ENST00000330807;ENST00000396198;ENST00000335854	D;D;D	0.90324	-2.65;-2.65;-2.65	5.39	3.62	0.41486	Aminotransferase, class I/classII (1);Tetrapyrrole biosynthesis, 5-aminolevulinic acid synthase (1);Pyridoxal phosphate-dependent transferase, major region, subdomain 2 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.096119	0.64402	D	0.000001	D	0.92322	0.7564	L	0.55834	1.745	0.50039	D	0.999843	D;D;D	0.63880	0.958;0.992;0.993	D;D;D	0.69142	0.913;0.949;0.962	D	0.89226	0.3574	10	0.29301	T	0.29	-23.0971	10.4925	0.44758	0.1666:0.0:0.8334:0.0	.	486;510;523	A8K6C4;Q5JZF5;P22557	.;.;HEM0_HUMAN	Q	523;510;486	ENSP00000332369:H523Q;ENSP00000379501:H510Q;ENSP00000337131:H486Q	ENSP00000332369:H523Q	H	-	3	2	ALAS2	55056675	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.984000	0.49353	0.581000	0.29539	0.538000	0.68166	CAC		0.572	ALAS2-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056843.3	NM_000032		12	7	1	0	0.00010058	1	0.00010058	12	7					T	55039950	G	T	55039950	3	4	375	1	0	0	0	0	1	0	0	0	485	1252	44	5	202	5	ALAS2	23	55039950	Missense_Mutation	SNP	G	TCGA-V1-A8WL-01A-11D-A377-08		55039950	100230610	35	18556											
KCNC4	3749	broad.mit.edu	37	chr1	110768696	110768696	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cccgacccccgaggagcgccGggccctgcgacgctccacca	6	2	12	21	6	0	0	0	0	0	0	1	4	1	1	7	2	2	1	7	2	0	0			TCGA-V1-A8WN-01A-11D-A377-08	TCGA-V1-A8WN-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c37c3d52-109b-4aa9-91af-4599adb223f0	c2f36eb3-3972-4616-84d6-c570b24881f2	g.chr1:110768696G>A	ENST00000369787.3	+	3	1742	c.1715G>A	c.(1714-1716)cGg>cAg	p.R572Q	KCNC4_ENST00000438661.2_Missense_Mutation_p.R572Q|KCNC4_ENST00000413138.3_Missense_Mutation_p.R572Q|KCNC4_ENST00000412512.2_Intron	NM_004978.4	NP_004969.2	Q03721	KCNC4_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 4	572					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of neurotransmitter secretion (GO:0046928)|synaptic transmission (GO:0007268)	axon terminus (GO:0043679)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)			central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(2)|lung(11)|ovary(1)|skin(2)	32		all_cancers(81;9.88e-06)|all_epithelial(167;3.23e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0238)|all cancers(265;0.0693)|Epithelial(280;0.0748)|Colorectal(144;0.112)|LUSC - Lung squamous cell carcinoma(189;0.135)		GAGGAGCGCCGGGCCCTGCGA	0.647																																						ENST00000369787.3																			0				central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(2)|lung(11)|ovary(1)|skin(2)	32						c.(1714-1716)cGg>cAg		potassium voltage-gated channel, Shaw-related subfamily, member 4							53	59	57					1																	110768696		2203	4300	6503	SO:0001583	missense	3749				synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr1:110768696G>A	BC101769	CCDS821.1, CCDS44193.1	1p21	2012-07-05			ENSG00000116396	ENSG00000116396		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6236	protein-coding gene	gene with protein product		176265	"chromosome 1 open reading frame 30"	C1orf30		1920536, 1740329, 16382104	Standard	NM_004978		Approved	Kv3.4, HKSHIIIC	uc001dzh.3	Q03721	OTTHUMG00000011037	ENST00000369787.3:c.1715G>A	1.37:g.110768696G>A	ENSP00000358802:p.Arg572Gln					KCNC4_ENST00000413138.3_Missense_Mutation_p.R572Q|KCNC4_ENST00000438661.2_Missense_Mutation_p.R572Q|KCNC4_ENST00000412512.2_Intron	p.R572Q	NM_004978.4	NP_004969.2	Q03721	KCNC4_HUMAN		Lung(183;0.0238)|all cancers(265;0.0693)|Epithelial(280;0.0748)|Colorectal(144;0.112)|LUSC - Lung squamous cell carcinoma(189;0.135)	3	1742	+		all_cancers(81;9.88e-06)|all_epithelial(167;3.23e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)	572					Q3MIM4|Q5TBI6	Missense_Mutation	SNP	ENST00000369787.3	37	c.1715G>A	CCDS821.1	.	.	.	.	.	.	.	.	.	.	G	19.61	3.859885	0.71834	.	.	ENSG00000116396	ENST00000369787;ENST00000413138;ENST00000438661	D;D;D	0.97114	-4.25;-4.25;-4.25	5.19	4.28	0.50868	.	0.117396	0.64402	N	0.000016	D	0.88771	0.6527	L	0.27053	0.805	0.41861	D	0.990222	B;B	0.28584	0.138;0.216	B;B	0.15870	0.006;0.014	D	0.86248	0.1647	10	0.27785	T	0.31	.	13.4337	0.61071	0.0762:0.0:0.9238:0.0	.	572;572	Q03721;Q03721-3	KCNC4_HUMAN;.	Q	572	ENSP00000358802:R572Q;ENSP00000388029:R572Q;ENSP00000393655:R572Q	ENSP00000358802:R572Q	R	+	2	0	KCNC4	110570219	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	5.418000	0.66429	1.185000	0.42971	0.462000	0.41574	CGG		0.647	KCNC4-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000052146.2	NM_001039574		6	50	0	0	0	1	0	6	50					A	110768696	G	A	110768696	3	1	376	1	0	0	0	0	1	0	0	0	8017	1116	39	2	1859	2	KCNC4	1	110768696	Missense_Mutation	SNP	G	TCGA-V1-A8WN-01A-11D-A377-08		110768696	138481925	1	18557											
TCHH	7062	broad.mit.edu	37	chr1	152081869	152081869	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgctcacgatctcgctctTgctgttcacccagcaggtgc	5	12	9	15	2	4	0	2	0	2	0	5	1	4	0	1	1	4	5	1	1	0	3			TCGA-V1-A8WN-01A-11D-A377-08	TCGA-V1-A8WN-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c37c3d52-109b-4aa9-91af-4599adb223f0	c2f36eb3-3972-4616-84d6-c570b24881f2	g.chr1:152081869T>G	ENST00000368804.1	-	2	3823	c.3824A>C	c.(3823-3825)cAa>cCa	p.Q1275P		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	1275					keratinization (GO:0031424)	cytoskeleton (GO:0005856)	calcium ion binding (GO:0005509)			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ATCTCGCTCTTGCTGTTCACC	0.557																																						ENST00000368804.1																			0				NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105						c.(3823-3825)cAa>cCa		trichohyalin							91	92	92					1																	152081869		1999	4162	6161	SO:0001583	missense	7062				keratinization	cytoskeleton	calcium ion binding	g.chr1:152081869T>G	L09190	CCDS41396.1	1q21-q23	2013-01-10		2006-01-27	ENSG00000159450	ENSG00000159450		"EF-hand domain containing"	11791	protein-coding gene	gene with protein product		190370		THH		1431214	Standard	NM_007113		Approved		uc001ezp.3	Q07283	OTTHUMG00000013066	ENST00000368804.1:c.3824A>C	1.37:g.152081869T>G	ENSP00000357794:p.Gln1275Pro						p.Q1275P	NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	3823	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1275					Q5VUI3	Missense_Mutation	SNP	ENST00000368804.1	37	c.3824A>C	CCDS41396.1	.	.	.	.	.	.	.	.	.	.	T	9.525	1.109279	0.20714	.	.	ENSG00000159450	ENST00000368804	T	0.05513	3.43	3.82	3.82	0.43975	.	.	.	.	.	T	0.01156	0.0038	N	0.14661	0.345	0.09310	N	1	P	0.49185	0.92	B	0.34242	0.178	T	0.48186	-0.9057	9	0.30078	T	0.28	.	10.5569	0.45123	0.0:0.0:0.0:1.0	.	1275	Q07283	TRHY_HUMAN	P	1275	ENSP00000357794:Q1275P	ENSP00000357794:Q1275P	Q	-	2	0	TCHH	150348493	0.001000	0.12720	0.004000	0.12327	0.004000	0.04260	0.492000	0.22435	1.385000	0.46445	0.372000	0.22366	CAA		0.557	TCHH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036671.2	NM_007113		4	74	0	0	0	1	0	4	74					G	152081869	T	G	152081869	3	3	376	1	0	0	0	0	1	0	0	0	15697	1812	63	5	2011	5	TCHH	1	152081869	Missense_Mutation	SNP	T	TCGA-V1-A8WN-01A-11D-A377-08	41313173	152081869	97168752	2	18558											
ADCY10	55811	broad.mit.edu	37	chr1	167871270	167871270	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atacctgcaaatttcaggatGtctcctccaaaaatcaacac	15	10	4	12	0	3	0	2	0	1	0	5	1	4	1	3	1	3	1	3	1	5	2			TCGA-V1-A8WN-01A-11D-A377-08	TCGA-V1-A8WN-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c37c3d52-109b-4aa9-91af-4599adb223f0	c2f36eb3-3972-4616-84d6-c570b24881f2	g.chr1:167871270G>A	ENST00000367851.4	-	4	460	c.276C>T	c.(274-276)gaC>gaT	p.D92D	ADCY10_ENST00000545172.1_5'UTR|ADCY10_ENST00000367848.1_5'UTR	NM_018417.4	NP_060887.2	Q96PN6	ADCYA_HUMAN	adenylate cyclase 10 (soluble)	92	Guanylate cyclase 1. {ECO:0000255|PROSITE-ProRule:PRU00099}.				cAMP biosynthetic process (GO:0006171)|intracellular signal transduction (GO:0035556)|positive regulation of apoptotic process (GO:0043065)|spermatogenesis (GO:0007283)	apical part of cell (GO:0045177)|axon (GO:0030424)|basal part of cell (GO:0045178)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite (GO:0030425)|growth cone (GO:0030426)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						ATTTCAGGATGTCTCCTCCAA	0.393																																						ENST00000367851.4																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						c.(274-276)gaC>gaT		adenylate cyclase 10 (soluble)							193	211	204					1																	167871270		2203	4300	6503	SO:0001819	synonymous_variant	55811				intracellular signal transduction|spermatogenesis	cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction	adenylate cyclase activity|ATP binding|magnesium ion binding	g.chr1:167871270G>A	AF271058	CCDS1265.1, CCDS53426.1, CCDS72977.1	1q24	2013-02-04			ENSG00000143199	ENSG00000143199	4.6.1.1	"Adenylate cyclases"	21285	protein-coding gene	gene with protein product	"soluble adenylyl cyclase", "Hypercalciuria, absorptive, 2"	605205					Standard	XM_006711449		Approved	SAC, Sacy, SACI, HCA2, RP1-313L4.2	uc001ger.3	Q96PN6	OTTHUMG00000034573	ENST00000367851.4:c.276C>T	1.37:g.167871270G>A						ADCY10_ENST00000545172.1_5'UTR|ADCY10_ENST00000367848.1_5'UTR	p.D92D	NM_018417.4	NP_060887.2	Q96PN6	ADCYA_HUMAN			4	460	-			92			Guanylate cyclase 1.		B4DZF0|F5GWS5|O95558|Q5R329|Q5R330|Q8WXV4|Q9NNX0	Silent	SNP	ENST00000367851.4	37	c.276C>T	CCDS1265.1																																																																																				0.393	ADCY10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083663.1	NM_018417		40	205	0	0	0	1	0	40	205					A	167871270	G	A	167871270	2	1	376	1	0	0	0	0	0	0	0	1	293	1368	48	3		3	ADCY10	1	167871270	Silent	SNP	G	TCGA-V1-A8WN-01A-11D-A377-08	15789401	167871270	81379351	3	18559											
DHX30	22907	broad.mit.edu	37	chr3	47889987	47889987	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttcctgtccaaggctgtggAcagtccaaacatcaaggcag	11	8	11	11	0	1	0	1	0	0	0	4	1	4	1	3	3	1	3	3	3	3	1			TCGA-V1-A8WN-01A-11D-A377-08	TCGA-V1-A8WN-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c37c3d52-109b-4aa9-91af-4599adb223f0	c2f36eb3-3972-4616-84d6-c570b24881f2	g.chr3:47889987A>T	ENST00000445061.1	+	16	2929	c.2522A>T	c.(2521-2523)gAc>gTc	p.D841V	MIR1226_ENST00000408658.1_RNA|DHX30_ENST00000457607.1_Missense_Mutation_p.D869V|DHX30_ENST00000446256.2_Missense_Mutation_p.D802V|DHX30_ENST00000348968.4_Missense_Mutation_p.D813V	NM_138615.2	NP_619520.1	Q7L2E3	DHX30_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 30	841						cytoplasm (GO:0005737)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|chromatin binding (GO:0003682)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)			endometrium(3)|kidney(1)|large_intestine(11)|lung(13)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	37				BRCA - Breast invasive adenocarcinoma(193;0.000696)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)		AAGGCTGTGGACAGTCCAAAC	0.657																																						ENST00000446256.2																			0				endometrium(3)|kidney(1)|large_intestine(11)|lung(13)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	37						c.(2404-2406)gAc>gTc		DEAH (Asp-Glu-Ala-His) box helicase 30							104	106	106					3																	47889987		2203	4300	6503	SO:0001583	missense	22907					mitochondrial nucleoid	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding	g.chr3:47889987A>T	AB020697	CCDS2759.1	3p24.3-p22.1	2013-07-16	2013-07-16	2003-06-13	ENSG00000132153	ENSG00000132153		"DEAH-boxes"	16716	protein-coding gene	gene with protein product			"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 30", "DEAH (Asp-Glu-Ala-His) box polypeptide 30"	DDX30		10048485, 18022663	Standard	NM_138615		Approved	KIAA0890, FLJ11214	uc003cru.3	Q7L2E3	OTTHUMG00000133522	ENST00000445061.1:c.2522A>T	3.37:g.47889987A>T	ENSP00000405620:p.Asp841Val					DHX30_ENST00000348968.4_Missense_Mutation_p.D813V|DHX30_ENST00000457607.1_Missense_Mutation_p.D869V|DHX30_ENST00000445061.1_Missense_Mutation_p.D841V	p.D802V	NM_014966.3	NP_055781.2	Q7L2E3	DHX30_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000696)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)	17	2977	+			841			Helicase C-terminal.		A8K5F1|O94965|Q7Z753|Q96CH4|Q9NUQ0	Missense_Mutation	SNP	ENST00000445061.1	37	c.2405A>T	CCDS2759.1	.	.	.	.	.	.	.	.	.	.	A	18.35	3.604906	0.66445	.	.	ENSG00000132153	ENST00000446256;ENST00000445061;ENST00000348968;ENST00000457607	T;T;T;T	0.04551	3.6;3.6;3.6;3.6	5.21	4.06	0.47325	.	0.154399	0.56097	D	0.000028	T	0.22437	0.0541	M	0.94021	3.485	0.80722	D	1	P;P	0.48294	0.779;0.908	B;P	0.56823	0.299;0.807	T	0.01977	-1.1236	10	0.87932	D	0	.	9.6665	0.39988	0.9186:0.0:0.0814:0.0	.	841;802	Q7L2E3;Q7L2E3-3	DHX30_HUMAN;.	V	802;841;813;869	ENSP00000392601:D802V;ENSP00000405620:D841V;ENSP00000343442:D813V;ENSP00000394682:D869V	ENSP00000343442:D813V	D	+	2	0	DHX30	47864991	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.915000	0.75770	1.962000	0.57031	0.533000	0.62120	GAC		0.657	DHX30-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257495.2	NM_138615		18	95	0	0	0	1	0	18	95					T	47889987	A	T	47889987	3	4	376	1	0	0	0	0	1	0	0	0	4504	275	10	5	2587	5	DHX30	3	47889987	Missense_Mutation	SNP	A	TCGA-V1-A8WN-01A-11D-A377-08		47889987	150132443	4	18560											
MXD4	10608	broad.mit.edu	37	chr4	2263671	2263671	+	Frame_Shift_Del	DEL	C	C	-																															cctgcgctccaggtactcggCcgcctccagcaggatcagca																										TCGA-V1-A8WN-01A-11D-A377-08	TCGA-V1-A8WN-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c37c3d52-109b-4aa9-91af-4599adb223f0	c2f36eb3-3972-4616-84d6-c570b24881f2	g.chr4:2263671delC	ENST00000337190.2	-	1	350	c.37delG	c.(37-39)gccfs	p.A13fs	MXD4_ENST00000515378.1_5'UTR	NM_006454.2	NP_006445.1	Q14582	MAD4_HUMAN	MAX dimerization protein 4	13	Interaction with SIN3A and SIN3B. {ECO:0000250}.				negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|transcription corepressor activity (GO:0003714)			breast(1)|endometrium(1)|kidney(1)|lung(3)	6						AGGTACTCGGCCGCCTCCAGC	0.801																																						ENST00000337190.2																			0				breast(1)|endometrium(1)|kidney(1)|lung(3)	6						c.(37-39)ccfs		MAX dimerization protein 4							5	6	6					4																	2263671		1637	3171	4808	SO:0001589	frameshift_variant	10608				negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|transcription corepressor activity	g.chr4:2263671delC		CCDS3361.1	4p16.3	2008-08-19			ENSG00000123933	ENSG00000123933		"MAX dimerization proteins", "Basic helix-loop-helix proteins"	13906	protein-coding gene	gene with protein product						8521822	Standard	NM_006454		Approved	MAD4, MSTP149, MST149, bHLHc12	uc003geu.1	Q14582	OTTHUMG00000090243	ENST00000337190.2:c.37delG	4.37:g.2263671delC	ENSP00000337889:p.Ala13fs					MXD4_ENST00000515378.1_5'UTR	p.A13fs	NM_006454.2	NP_006445.1	Q14582	MAD4_HUMAN			1	350	-			13			Interaction with SIN3A and SIN3B (By similarity).		A2A335|Q5TZX4	Frame_Shift_Del	DEL	ENST00000337190.2	37	c.37delG	CCDS3361.1																																																																																				0.801	MXD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206519.1	NM_006454		2	4						2	4	---	---	---	---	-	2263671	C	-	2263671	7	5	376	1	0	1	0	1	0	0	0	0	10001	739	26	0	616	0	MXD4	4	2263671	Frame_Shift_Del	DEL	C	TCGA-V1-A8WN-01A-11D-A377-08		2263671	188890605	5	18561											
S100Z	170591	broad.mit.edu	37	chr5	76171233	76171233	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acaccatgattagaatcttcCaccgctattctggcaaggaa	13	10	7	11	1	2	2	0	1	2	1	3	3	3	3	3	2	0	2	3	2	5	4			TCGA-V1-A8WN-01A-11D-A377-08	TCGA-V1-A8WN-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c37c3d52-109b-4aa9-91af-4599adb223f0	c2f36eb3-3972-4616-84d6-c570b24881f2	g.chr5:76171233C>T	ENST00000317593.4	+	3	281	c.49C>T	c.(49-51)Cac>Tac	p.H17Y	S100Z_ENST00000513010.1_Missense_Mutation_p.H17Y	NM_130772.3	NP_570128.2	Q8WXG8	S100Z_HUMAN	S100 calcium binding protein Z	17	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.						calcium ion binding (GO:0005509)			large_intestine(1)|ovary(1)	2		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)		OV - Ovarian serous cystadenocarcinoma(54;8.91e-51)|Epithelial(54;5.43e-45)|all cancers(79;1.82e-40)		TAGAATCTTCCACCGCTATTC	0.552																																						ENST00000317593.4																			0				large_intestine(1)|ovary(1)	2						c.(49-51)Cac>Tac		S100 calcium binding protein Z							64	67	66					5																	76171233		1969	4156	6125	SO:0001583	missense	170591						calcium ion binding	g.chr5:76171233C>T	AF437876	CCDS43333.1	5q13.3	2014-08-12	2006-09-11		ENSG00000171643	ENSG00000171643		"S100 calcium binding proteins", "EF-hand domain containing"	30367	protein-coding gene	gene with protein product		610103	"S100 calcium binding protein, zeta"			11747429	Standard	NM_130772		Approved	Gm625, S100-zeta	uc003keq.4	Q8WXG8	OTTHUMG00000162441	ENST00000317593.4:c.49C>T	5.37:g.76171233C>T	ENSP00000320430:p.His17Tyr					S100Z_ENST00000513010.1_Missense_Mutation_p.H17Y	p.H17Y	NM_130772.3	NP_570128.2	Q8WXG8	S100Z_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;8.91e-51)|Epithelial(54;5.43e-45)|all cancers(79;1.82e-40)	3	281	+		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)	17			EF-hand 1.			Missense_Mutation	SNP	ENST00000317593.4	37	c.49C>T	CCDS43333.1	.	.	.	.	.	.	.	.	.	.	C	11.29	1.593945	0.28445	.	.	ENSG00000171643	ENST00000513010;ENST00000317593	T;T	0.16743	2.32;2.32	5.69	4.82	0.62117	S100/CaBP-9k-type, calcium binding, subdomain (1);EF-hand-like domain (1);	0.096386	0.64402	D	0.000001	T	0.19525	0.0469	.	.	.	0.41768	D	0.989754	B	0.18863	0.031	B	0.30316	0.114	T	0.02893	-1.1097	9	0.48119	T	0.1	.	14.4293	0.67238	0.0:0.9282:0.0:0.0718	.	17	Q8WXG8	S100Z_HUMAN	Y	17	ENSP00000426768:H17Y;ENSP00000320430:H17Y	ENSP00000320430:H17Y	H	+	1	0	S100Z	76206989	1.000000	0.71417	0.992000	0.48379	0.080000	0.17528	2.924000	0.48876	1.400000	0.46741	0.655000	0.94253	CAC		0.552	S100Z-002	KNOWN	alternative_3_UTR|alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368927.1	NM_130772		3	30	0	0	0	1	0	3	30					T	76171233	C	T	76171233	3	4	376	1	0	0	0	0	1	0	0	0	13792	594	21	3	51	3	S100Z	5	76171233	Missense_Mutation	SNP	C	TCGA-V1-A8WN-01A-11D-A377-08		76171233	104744027	6	18562											
PCDHA6	56142	broad.mit.edu	37	chr5	140207846	140207846	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggacctggggctggagctggCggagctggtgccgcgcctgt	3	7	20	11	3	0	0	0	0	0	0	0	3	0	3	3	7	3	3	3	7	0	0			TCGA-V1-A8WN-01A-11D-A377-08	TCGA-V1-A8WN-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c37c3d52-109b-4aa9-91af-4599adb223f0	c2f36eb3-3972-4616-84d6-c570b24881f2	g.chr5:140207846C>T	ENST00000529310.1	+	1	284	c.170C>T	c.(169-171)gCg>gTg	p.A57V	PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000527624.1_Missense_Mutation_p.A57V|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron	NM_018909.2|NM_031848.2|NM_031849.1	NP_061732.1|NP_114036.1|NP_114037.1	Q9UN73	PCDA6_HUMAN	protocadherin alpha 6	57	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	89			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGGAGCTGGCGGAGCTGGTG	0.617																																						ENST00000529310.1																			0				NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						c.(169-171)gCg>gTg									57	69	65					5																	140207846		2203	4300	6503	SO:0001583	missense	0							g.chr5:140207846C>T	AF152484	CCDS47281.1, CCDS47282.1	5q31	2010-11-26			ENSG00000081842	ENSG00000081842		"Cadherins / Protocadherins : Clustered"	8672	other	complex locus constituent	"KIAA0345-like 8"	606312		CNRS2		10380929, 10662547	Standard	NM_018909		Approved	CNR2, CRNR2, PCDH-ALPHA6		Q9UN73	OTTHUMG00000163353	ENST00000529310.1:c.170C>T	5.37:g.140207846C>T	ENSP00000433378:p.Ala57Val					PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000527624.1_Missense_Mutation_p.A57V|PCDHA4_ENST00000512229.2_Intron	p.A57V	NM_018909.2|NM_031848.1|NM_031849.1	NP_061732.1|NP_114036.1|NP_114037.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	284	+								O75283|Q9NRT8	Missense_Mutation	SNP	ENST00000529310.1	37	c.170C>T	CCDS47281.1	.	.	.	.	.	.	.	.	.	.	C	7.308	0.614444	0.14129	.	.	ENSG00000081842	ENST00000529310;ENST00000527624	T;T	0.38722	1.12;1.12	3.87	0.714	0.18180	Cadherin, N-terminal (1);Cadherin (3);Cadherin-like (1);	0.479872	0.14799	U	0.297775	T	0.33527	0.0866	L	0.55481	1.735	0.09310	N	1	B;P;P	0.41597	0.019;0.486;0.756	B;B;B	0.39258	0.006;0.135;0.295	T	0.15178	-1.0446	10	0.48119	T	0.1	.	6.2636	0.20913	0.3942:0.3396:0.2662:0.0	.	57;57;57	Q9UN73-3;Q9UN73;Q9UN73-2	.;PCDA6_HUMAN;.	V	57	ENSP00000433378:A57V;ENSP00000434113:A57V	ENSP00000434113:A57V	A	+	2	0	PCDHA6	140188030	0.000000	0.05858	0.995000	0.50966	0.217000	0.24651	-1.974000	0.01499	0.372000	0.24591	-0.823000	0.03104	GCG		0.617	PCDHA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372829.3	NM_018909		6	104	0	0	0	1	0	6	104					T	140207846	C	T	140207846	3	4	376	1	0	0	0	0	1	0	0	0	11528	768	27	1	172	1	PCDHA6	5	140207846	Missense_Mutation	SNP	C	TCGA-V1-A8WN-01A-11D-A377-08	64036613	140207846	40707414	7	18563											
TCERG1	10915	broad.mit.edu	37	chr5	145843226	145843226	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtgcaaaccgttccccagccGcaccctcagacgttacctcc	8	7	7	19	3	1	1	1	0	0	1	3	1	3	1	7	0	4	4	7	0	2	2			TCGA-V1-A8WN-01A-11D-A377-08	TCGA-V1-A8WN-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c37c3d52-109b-4aa9-91af-4599adb223f0	c2f36eb3-3972-4616-84d6-c570b24881f2	g.chr5:145843226G>A	ENST00000296702.5	+	5	1043	c.1005G>A	c.(1003-1005)ccG>ccA	p.P335P	TCERG1_ENST00000394421.2_Silent_p.P335P	NM_006706.3	NP_006697.2	O14776	TCRG1_HUMAN	transcription elongation regulator 1	335	Pro-rich.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA polymerase II repressing transcription factor binding (GO:0001103)|RNA polymerase II transcription corepressor activity (GO:0001106)|transcription coactivator activity (GO:0003713)			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(18)|lung(9)|ovary(2)|prostate(3)|skin(1)	46		Lung NSC(249;0.00188)|all_lung(500;0.00307)|all_neural(839;0.0424)|Breast(839;0.0743)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TTCCCCAGCCGCACCCTCAGA	0.517																																						ENST00000296702.5																			0				breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(18)|lung(9)|ovary(2)|prostate(3)|skin(1)	46						c.(1003-1005)ccG>ccA		transcription elongation regulator 1							257	218	231					5																	145843226		2203	4300	6503	SO:0001819	synonymous_variant	10915				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	protein binding|transcription coactivator activity	g.chr5:145843226G>A	AF017789	CCDS4282.1, CCDS43379.1	5q31	2010-01-25	2002-01-24	2002-01-25	ENSG00000113649	ENSG00000113649			15630	protein-coding gene	gene with protein product	"transcription factor CA150", "co-activator of 150 kDa", "TATA box binding protein (TBP)-associated factor, RNA polymerase II, S, 150kD", "TATA box-binding protein-associated factor 2S"	605409	"TATA box binding protein (TBP)-associated factor, RNA polymerase II, S, 150kD"	TAF2S		9315662, 11003711	Standard	XM_005268365		Approved	CA150, Urn1	uc003lob.3	O14776	OTTHUMG00000129683	ENST00000296702.5:c.1005G>A	5.37:g.145843226G>A						TCERG1_ENST00000394421.2_Silent_p.P335P	p.P335P	NM_006706.3	NP_006697.2	O14776	TCRG1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		5	1043	+		Lung NSC(249;0.00188)|all_lung(500;0.00307)|all_neural(839;0.0424)|Breast(839;0.0743)	335			Pro-rich.		Q2NKN2|Q59EA1	Silent	SNP	ENST00000296702.5	37	c.1005G>A	CCDS4282.1																																																																																				0.517	TCERG1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251886.1	NM_001040006		4	131	0	0	0	1	0	4	131					A	145843226	G	A	145843226	2	1	376	1	0	0	0	0	0	0	0	1	15682	1074	38	1		1	TCERG1	5	145843226	Silent	SNP	G	TCGA-V1-A8WN-01A-11D-A377-08	5635380	145843226	35072034	8	18564											
C6orf105	84830	broad.mit.edu	37	chr6	11714718	11714718	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aaatggtgtgcaattacttcCtcttcttccgtggctgcctc	6	15	8	12	1	2	0	0	0	2	0	5	0	4	0	3	2	3	2	3	2	3	4			TCGA-V1-A8WN-01A-11D-A377-08	TCGA-V1-A8WN-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c37c3d52-109b-4aa9-91af-4599adb223f0	c2f36eb3-3972-4616-84d6-c570b24881f2	g.chr6:11714718C>T	ENST00000414691.3	-	6	1096	c.686G>A	c.(685-687)aGg>aAg	p.R229K	ADTRP_ENST00000229583.5_Missense_Mutation_p.R247K|ADTRP_ENST00000514824.1_5'UTR	NM_032744.3	NP_116133.1	Q96IZ2	ADTRP_HUMAN	androgen-dependent TFPI-regulating protein	229						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)											CAATTACTTCCTCTTCTTCCG	0.428																																						ENST00000414691.3																			0											c.(685-687)aGg>aAg		androgen-dependent TFPI-regulating protein							151	144	146					6																	11714718		2203	4300	6503	SO:0001583	missense	84830					integral to membrane		g.chr6:11714718C>T	AJ420520	CCDS4521.1, CCDS47374.1	6p24.1	2012-01-30	2012-01-27	2012-01-27	ENSG00000111863	ENSG00000111863			21214	protein-coding gene	gene with protein product	"androgen-induced 1-like"	614348	"chromosome 6 open reading frame 105"	C6orf105		21868574	Standard	NM_032744		Approved	dJ413H6.1, AIG1L	uc011dip.2	Q96IZ2	OTTHUMG00000014260	ENST00000414691.3:c.686G>A	6.37:g.11714718C>T	ENSP00000404416:p.Arg229Lys					ADTRP_ENST00000229583.5_Missense_Mutation_p.R247K|ADTRP_ENST00000514824.1_5'UTR	p.R229K	NM_032744.3	NP_116133.1	Q96IZ2	CF105_HUMAN			6	1096	-			229					B2R7T9|B4DV39|Q5THW1	Missense_Mutation	SNP	ENST00000414691.3	37	c.686G>A	CCDS4521.1	.	.	.	.	.	.	.	.	.	.	C	4.698	0.129828	0.08981	.	.	ENSG00000111863	ENST00000414691;ENST00000229583	T;T	0.28895	1.59;1.59	5.63	-0.821	0.10822	.	.	.	.	.	T	0.02304	0.0071	N	0.03948	-0.315	0.58432	D	0.999998	B;B	0.19583	0.037;0.002	B;B	0.18561	0.022;0.003	T	0.44636	-0.9315	9	0.02654	T	1	.	3.0657	0.06213	0.3062:0.3093:0.0:0.3846	.	247;229	Q96IZ2-2;Q96IZ2	.;ADTRP_HUMAN	K	229;247	ENSP00000404416:R229K;ENSP00000229583:R247K	ENSP00000229583:R247K	R	-	2	0	C6orf105	11822704	0.039000	0.19947	0.775000	0.31657	0.619000	0.37552	-0.128000	0.10531	-0.376000	0.07943	0.655000	0.94253	AGG		0.428	ADTRP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039864.3	NM_032744		3	63	0	0	0	1	0	3	63					T	11714718	C	T	11714718	3	4	376	1	0	0	0	0	1	0	0	0	2318	681	24	3	10	3	C6orf105	6	11714718	Missense_Mutation	SNP	C	TCGA-V1-A8WN-01A-11D-A377-08		11714718	159400349	9	18565											
KIAA1586	57691	broad.mit.edu	37	chr6	56917924	56917924	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctacgaaaaaaaattagggaAcatgatgtttctaaagccca	18	9	7	7	1	1	1	0	1	1	0	1	3	1	2	1	1	3	1	1	1	9	4			TCGA-V1-A8WN-01A-11D-A377-08	TCGA-V1-A8WN-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c37c3d52-109b-4aa9-91af-4599adb223f0	c2f36eb3-3972-4616-84d6-c570b24881f2	g.chr6:56917924A>G	ENST00000370733.4	+	4	834	c.627A>G	c.(625-627)gaA>gaG	p.E209E	KIAA1586_ENST00000545356.1_Silent_p.E182E	NM_020931.2	NP_065982.1	Q9HCI6	K1586_HUMAN	KIAA1586	209							nucleic acid binding (GO:0003676)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(9)|skin(1)	18	Lung NSC(77;0.0969)		LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)			AAATTAGGGAACATGATGTTT	0.313																																						ENST00000370733.4																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(9)|skin(1)	18						c.(625-627)gaA>gaG		KIAA1586							54	56	55					6																	56917924		2203	4299	6502	SO:0001819	synonymous_variant	57691						nucleic acid binding	g.chr6:56917924A>G	AB046806	CCDS34480.1, CCDS69138.1	6p12.1	2014-03-27			ENSG00000168116	ENSG00000168116			21360	protein-coding gene	gene with protein product						10997877	Standard	NM_001286274		Approved		uc003pdj.3	Q9HCI6	OTTHUMG00000014915	ENST00000370733.4:c.627A>G	6.37:g.56917924A>G						KIAA1586_ENST00000545356.1_Silent_p.E182E	p.E209E	NM_020931.2	NP_065982.1	Q9HCI6	K1586_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)		4	834	+	Lung NSC(77;0.0969)		209					A8K4M3|Q8IW25	Silent	SNP	ENST00000370733.4	37	c.627A>G	CCDS34480.1																																																																																				0.313	KIAA1586-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041033.1	NM_020931		16	41	0	0	0	1	0	16	41					G	56917924	A	G	56917924	2	3	376	1	0	0	0	0	0	0	0	1	8245	40	2	4		4	KIAA1586	6	56917924	Silent	SNP	A	TCGA-V1-A8WN-01A-11D-A377-08	45203206	56917924	114197143	10	18566											
CYP2C9	1559	broad.mit.edu	37	chr10	96701990	96701990	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaaatggaaggagatccggCgtttctccctcatgacgctg	10	9	12	10	3	2	3	1	1	1	2	4	5	3	4	2	3	0	2	2	3	2	1	rs375805362		TCGA-V1-A8WN-01A-11D-A377-08	TCGA-V1-A8WN-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c37c3d52-109b-4aa9-91af-4599adb223f0	c2f36eb3-3972-4616-84d6-c570b24881f2	g.chr10:96701990C>T	ENST00000260682.6	+	3	385	c.373C>T	c.(373-375)Cgt>Tgt	p.R125C	CYP2C9_ENST00000461906.1_3'UTR	NM_000771.3	NP_000762.2	P11712	CP2C9_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 9	125					arachidonic acid metabolic process (GO:0019369)|cellular amide metabolic process (GO:0043603)|drug catabolic process (GO:0042737)|drug metabolic process (GO:0017144)|epoxygenase P450 pathway (GO:0019373)|exogenous drug catabolic process (GO:0042738)|monocarboxylic acid metabolic process (GO:0032787)|monoterpenoid metabolic process (GO:0016098)|omega-hydroxylase P450 pathway (GO:0097267)|oxidation-reduction process (GO:0055114)|oxidative demethylation (GO:0070989)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|urea metabolic process (GO:0019627)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)	(R)-limonene 6-monooxygenase activity (GO:0052741)|(S)-limonene 6-monooxygenase activity (GO:0018675)|(S)-limonene 7-monooxygenase activity (GO:0018676)|caffeine oxidase activity (GO:0034875)|drug binding (GO:0008144)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity (GO:0016491)|steroid hydroxylase activity (GO:0008395)			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	34		Colorectal(252;0.0902)		all cancers(201;6.93e-05)	Acenocoumarol(DB01418)|Acetaminophen(DB00316)|Acetylsalicylic acid(DB00945)|Agomelatine(DB06594)|Alosetron(DB00969)|Alprazolam(DB00404)|Aminophenazone(DB01424)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amodiaquine(DB00613)|Amprenavir(DB00701)|Anastrozole(DB01217)|Antipyrine(DB01435)|Apixaban(DB06605)|Aprepitant(DB00673)|Arformoterol(DB01274)|Artemether(DB06697)|Atazanavir(DB01072)|Atorvastatin(DB01076)|Atovaquone(DB01117)|Azelastine(DB00972)|Bexarotene(DB00307)|Bicalutamide(DB01128)|Bortezomib(DB00188)|Bosentan(DB00559)|Brompheniramine(DB00835)|Buprenorphine(DB00921)|Bupropion(DB01156)|Cabozantinib(DB08875)|Caffeine(DB00201)|Candesartan(DB00796)|Capecitabine(DB01101)|Carbamazepine(DB00564)|Carbinoxamine(DB00748)|Carvedilol(DB01136)|Celecoxib(DB00482)|Chloramphenicol(DB00446)|Chlorpropamide(DB00672)|Cholecalciferol(DB00169)|Cimetidine(DB00501)|Cinnarizine(DB00568)|Cisapride(DB00604)|Cisplatin(DB00515)|Clevidipine(DB04920)|Clopidogrel(DB00758)|Clotrimazole(DB00257)|Clozapine(DB00363)|Cocaine(DB00907)|Colchicine(DB01394)|Cyclizine(DB01176)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dapagliflozin(DB06292)|Dapsone(DB00250)|Delavirdine(DB00705)|Desloratadine(DB00967)|Dexamethasone(DB01234)|Dexfenfluramine(DB01191)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Diazepam(DB00829)|Diclofenac(DB00586)|Diclofenamide(DB01144)|Dicoumarol(DB00266)|Diethylstilbestrol(DB00255)|Diltiazem(DB00343)|Diphenhydramine(DB01075)|Disulfiram(DB00822)|Dolasetron(DB00757)|Donepezil(DB00843)|Dopamine(DB00988)|Dorzolamide(DB00869)|Doxepin(DB01142)|Dronabinol(DB00470)|Efavirenz(DB00625)|Eletriptan(DB00216)|Enzalutamide(DB08899)|Epinephrine(DB00668)|Epoprostenol(DB01240)|Eprosartan(DB00876)|Estradiol(DB00783)|Estrone(DB00655)|Estropipate(DB04574)|Eszopiclone(DB00402)|Ethanol(DB00898)|Etodolac(DB00749)|Etoricoxib(DB01628)|Etravirine(DB06414)|Felodipine(DB01023)|Fenofibrate(DB01039)|Flecainide(DB01195)|Fluconazole(DB00196)|Flunarizine(DB04841)|Flunitrazepam(DB01544)|Fluorouracil(DB00544)|Fluoxetine(DB00472)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Gefitinib(DB00317)|Gemfibrozil(DB01241)|Ginkgo biloba(DB01381)|Gliclazide(DB01120)|Glimepiride(DB00222)|Glipizide(DB01067)|Glyburide(DB01016)|Guanfacine(DB01018)|Haloperidol(DB00502)|Halothane(DB01159)|Hexobarbital(DB01355)|Histamine Phosphate(DB00667)|Human Serum Albumin(DB00062)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Idarubicin(DB01177)|Ifosfamide(DB01181)|Imatinib(DB00619)|Indinavir(DB00224)|Indomethacin(DB00328)|Irbesartan(DB01029)|Isoniazid(DB00951)|Ketamine(DB01221)|Ketobemidone(DB06738)|Ketoconazole(DB01026)|Ketoprofen(DB01009)|Lansoprazole(DB00448)|Leflunomide(DB01097)|Lidocaine(DB00281)|Lopinavir(DB01601)|Loratadine(DB00455)|Lornoxicam(DB06725)|Losartan(DB00678)|Lovastatin(DB00227)|Lumiracoxib(DB01283)|Medroxyprogesterone Acetate(DB00603)|Mefenamic acid(DB00784)|Melatonin(DB01065)|Meloxicam(DB00814)|Mestranol(DB01357)|Methadone(DB00333)|Methazolamide(DB00703)|Methimazole(DB00763)|Methoxyflurane(DB01028)|Metronidazole(DB00916)|Miconazole(DB01110)|Mirtazapine(DB00370)|Moclobemide(DB01171)|Modafinil(DB00745)|Montelukast(DB00471)|Naproxen(DB00788)|Nateglinide(DB00731)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicardipine(DB00622)|Niclosamide(DB06803)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nilutamide(DB00665)|Nilvadipine(DB06712)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Omeprazole(DB00338)|Ondansetron(DB00904)|Ospemifene(DB04938)|Oxaprozin(DB00991)|Paclitaxel(DB01229)|Pantoprazole(DB00213)|Paramethadione(DB00617)|Paroxetine(DB00715)|Perphenazine(DB00850)|Phenobarbital(DB01174)|Phenprocoumon(DB00946)|Phentermine(DB00191)|Phenylbutazone(DB00812)|Phenytoin(DB00252)|Pioglitazone(DB01132)|Piroxicam(DB00554)|Pitavastatin(DB08860)|Pranlukast(DB01411)|Prasugrel(DB06209)|Pravastatin(DB00175)|Primidone(DB00794)|Probenecid(DB01032)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Promethazine(DB01069)|Propafenone(DB01182)|Propofol(DB00818)|Pyrimethamine(DB00205)|Quazepam(DB01589)|Quinidine(DB00908)|Quinine(DB00468)|Rabeprazole(DB01129)|Regorafenib(DB08896)|Rifampicin(DB01045)|Rifapentine(DB01201)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Rosuvastatin(DB01098)|Salicylic acid(DB00936)|Saquinavir(DB01232)|Secobarbital(DB00418)|Selegiline(DB01037)|Sertraline(DB01104)|Sildenafil(DB00203)|Simvastatin(DB00641)|Sitaxentan(DB06268)|Sorafenib(DB00398)|Sulfadiazine(DB00359)|Sulfadimethoxine(DB06150)|Sulfamethizole(DB00576)|Sulfamethoxazole(DB01015)|Sulfamoxole(DB08798)|Sulfanilamide(DB00259)|Sulfaphenazole(DB06729)|Sulfapyridine(DB00891)|Sulfinpyrazone(DB01138)|Sulfisoxazole(DB00263)|Suprofen(DB00870)|Tamoxifen(DB00675)|Tapentadol(DB06204)|Temazepam(DB00231)|Teniposide(DB00444)|Tenoxicam(DB00469)|Terbinafine(DB00857)|Testosterone(DB00624)|Thalidomide(DB01041)|Theophylline(DB00277)|Thiamylal(DB01154)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tioconazole(DB01007)|Tolbutamide(DB01124)|Tolcapone(DB00323)|Tolterodine(DB01036)|Torasemide(DB00214)|Trabectedin(DB05109)|Tranylcypromine(DB00752)|Treprostinil(DB00374)|Tretinoin(DB00755)|Triazolam(DB00897)|Trimethadione(DB00347)|Trimethoprim(DB00440)|Trimipramine(DB00726)|Troleandomycin(DB01361)|Valproic Acid(DB00313)|Valsartan(DB00177)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vismodegib(DB08828)|Voriconazole(DB00582)|Warfarin(DB00682)|Ximelagatran(DB04898)|Zafirlukast(DB00549)|Zalcitabine(DB00943)|Zidovudine(DB00495)|Zileuton(DB00744)|Zolpidem(DB00425)|Zopiclone(DB01198)	GGAGATCCGGCGTTTCTCCCT	0.502																																					Ovarian(54;1266 1406 16072 35076)	ENST00000260682.6																			0				breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						c.(373-375)Cgt>Tgt		cytochrome P450, family 2, subfamily C, polypeptide 9	Acenocoumarol(DB01418)|Alosetron(DB00969)|Amiodarone(DB01118)|Antihemophilic Factor(DB00025)|Aprepitant(DB00673)|Bosentan(DB00559)|Carprofen(DB00821)|Carvedilol(DB01136)|Celecoxib(DB00482)|Clomipramine(DB01242)|Dapsone(DB00250)|Delavirdine(DB00705)|Desloratadine(DB00967)|Desogestrel(DB00304)|Diclofenac(DB00586)|Esomeprazole(DB00736)|Etodolac(DB00749)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Gemfibrozil(DB01241)|Ginkgo biloba(DB01381)|Glibenclamide(DB01016)|Glimepiride(DB00222)|Glipizide(DB01067)|Guanfacine(DB01018)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Imipramine(DB00458)|Irbesartan(DB01029)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Losartan(DB00678)|Lumiracoxib(DB01283)|Marinol(DB00470)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mephenytoin(DB00532)|Metronidazole(DB00916)|Miconazole(DB01110)|Midazolam(DB00683)|Montelukast(DB00471)|Nateglinide(DB00731)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Oxymorphone(DB01192)|Pantoprazole(DB00213)|Paramethadione(DB00617)|Phenprocoumon(DB00946)|Phenytoin(DB00252)|Pravastatin(DB00175)|Quinidine(DB00908)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Sertraline(DB01104)|Sildenafil(DB00203)|Sulfamethoxazole(DB01015)|Suprofen(DB00870)|Tamoxifen(DB00675)|Tenoxicam(DB00469)|Terfenadine(DB00342)|Tolbutamide(DB01124)|Torasemide(DB00214)|Troleandomycin(DB01361)|Valdecoxib(DB00580)|Valsartan(DB00177)|Voriconazole(DB00582)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zileuton(DB00744)	C	CYS/ARG	2,4404		0,2,2201	125	117	120		373	2.4	0.1	10		120	0,8600		0,0,4300	no	missense	CYP2C9	NM_000771.3	180	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	probably-damaging	125/491	96701990	2,13004	2203	4300	6503	SO:0001583	missense	1559				exogenous drug catabolic process|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative demethylation|steroid metabolic process|urea metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|caffeine oxidase activity|drug binding|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity	g.chr10:96701990C>T	M61855	CCDS7437.1	10q24.1	2007-12-14	2003-01-14		ENSG00000138109	ENSG00000138109		"Cytochrome P450s"	2623	protein-coding gene	gene with protein product		601130	"cytochrome P450, subfamily IIC (mephenytoin 4-hydroxylase), polypeptide 9"	CYP2C10		2009263, 7841444	Standard	NM_000771		Approved	P450IIC9	uc001kka.4	P11712	OTTHUMG00000018805	ENST00000260682.6:c.373C>T	10.37:g.96701990C>T	ENSP00000260682:p.Arg125Cys					CYP2C9_ENST00000461906.1_3'UTR	p.R125C	NM_000771.3	NP_000762.2	P11712	CP2C9_HUMAN		all cancers(201;6.93e-05)	3	385	+		Colorectal(252;0.0902)	125					P11713|Q16756|Q16872|Q5VX92|Q6IRV8|Q8WW80	Missense_Mutation	SNP	ENST00000260682.6	37	c.373C>T	CCDS7437.1	.	.	.	.	.	.	.	.	.	.	.	17.50	3.406107	0.62288	4.54E-4	0.0	ENSG00000138109	ENST00000545448;ENST00000260682	T	0.15952	2.38	3.34	2.36	0.29203	.	0.000000	0.64402	U	0.000003	T	0.49779	0.1577	H	0.96720	3.87	0.50632	D	0.999884	D;D;D	0.56521	0.964;0.964;0.976	P;P;D	0.64506	0.857;0.857;0.926	T	0.59542	-0.7435	10	0.87932	D	0	.	9.3002	0.37840	0.217:0.783:0.0:0.0	.	125;125;125	Q5VX92;P11712;Q8WW80	.;CP2C9_HUMAN;.	C	125	ENSP00000260682:R125C	ENSP00000260682:R125C	R	+	1	0	CYP2C9	96691980	0.517000	0.26226	0.122000	0.21767	0.777000	0.43975	1.035000	0.30216	0.641000	0.30601	0.484000	0.47621	CGT		0.502	CYP2C9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049501.1	NM_000771		22	123	0	0	0	1	0	22	123					T	96701990	C	T	96701990	3	4	376	1	0	0	0	0	1	0	0	0	4168	768	27	1	383	1	CYP2C9	10	96701990	Missense_Mutation	SNP	C	TCGA-V1-A8WN-01A-11D-A377-08		96701990	38832757	11	18567											
MUC5B	727897	broad.mit.edu	37	chr11	1269662	1269662	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cagggccaccggctctgtggCcaccccctcttccaccccag	5	6	9	21	1	2	0	0	0	2	0	3	0	3	0	8	3	0	1	8	3	0	1			TCGA-V1-A8WN-01A-11D-A377-08	TCGA-V1-A8WN-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c37c3d52-109b-4aa9-91af-4599adb223f0	c2f36eb3-3972-4616-84d6-c570b24881f2	g.chr11:1269662C>T	ENST00000529681.1	+	31	11610	c.11552C>T	c.(11551-11553)gCc>gTc	p.A3851V	MUC5B_ENST00000447027.1_Missense_Mutation_p.A3854V|RP11-532E4.2_ENST00000532061.2_RNA	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	3851	11 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.				cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		GGCTCTGTGGCCACCCCCTCT	0.637																																						ENST00000447027.1																			0				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137						c.(11560-11562)gCc>gTc		mucin 5B, oligomeric mucus/gel-forming							115	133	127					11																	1269662		2071	4176	6247	SO:0001583	missense	727897				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	g.chr11:1269662C>T	U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"Mucins"	7516	protein-coding gene	gene with protein product		600770	"mucin 5, subtype B, tracheobronchial"	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.11552C>T	11.37:g.1269662C>T	ENSP00000436812:p.Ala3851Val					MUC5B_ENST00000529681.1_Missense_Mutation_p.A3851V|RP11-532E4.2_ENST00000532061.2_RNA	p.A3854V			Q9HC84	MUC5B_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)	31	11619	+		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	3851			11 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.		O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Missense_Mutation	SNP	ENST00000529681.1	37	c.11561C>T	CCDS44515.2	.	.	.	.	.	.	.	.	.	.	C	2.343	-0.350618	0.05173	.	.	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637;ENST00000406844	T;T	0.19669	2.13;2.32	1.83	-3.66	0.04489	.	.	.	.	.	T	0.19725	0.0474	M	0.74258	2.255	0.09310	N	1	B;B	0.22346	0.068;0.03	B;B	0.12837	0.008;0.008	T	0.15954	-1.0419	9	0.87932	D	0	.	3.449	0.07491	0.1586:0.2781:0.4456:0.1176	.	4379;3854	A7Y9J9;E9PBJ0	.;.	V	3851;3854;3795;3756	ENSP00000436812:A3851V;ENSP00000415793:A3854V	ENSP00000343037:A3795V	A	+	2	0	MUC5B	1226238	0.000000	0.05858	0.000000	0.03702	0.036000	0.12997	-0.216000	0.09266	-2.815000	0.00346	0.194000	0.17425	GCC		0.637	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093		4	93	0	0	0	1	0	4	93					T	1269662	C	T	1269662	3	4	376	1	0	0	0	0	1	0	0	0	9979	739	26	3	11683	3	MUC5B	11	1269662	Missense_Mutation	SNP	C	TCGA-V1-A8WN-01A-11D-A377-08		1269662	133736854	12	18568											
POSTN	10631	broad.mit.edu	37	chr13	38164595	38164595	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcctccctcagttttgaggCgtcagaatagcgctgcgttg	6	12	11	12	3	2	2	2	1	0	1	4	2	4	2	2	1	2	3	2	1	2	4			TCGA-V1-A8WN-01A-11D-A377-08	TCGA-V1-A8WN-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c37c3d52-109b-4aa9-91af-4599adb223f0	c2f36eb3-3972-4616-84d6-c570b24881f2	g.chr13:38164595C>T	ENST00000379747.4	-	4	472	c.355G>A	c.(355-357)Gcc>Acc	p.A119T	POSTN_ENST00000379742.4_Missense_Mutation_p.A119T|POSTN_ENST00000541481.1_Missense_Mutation_p.A119T|POSTN_ENST00000379743.4_Missense_Mutation_p.A119T|POSTN_ENST00000541179.1_Missense_Mutation_p.A119T|POSTN_ENST00000379749.4_Missense_Mutation_p.A119T	NM_006475.2	NP_006466.2	Q15063	POSTN_HUMAN	periostin, osteoblast specific factor	119	FAS1 1. {ECO:0000255|PROSITE- ProRule:PRU00082, ECO:0000305}.				cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|regulation of Notch signaling pathway (GO:0008593)|skeletal system development (GO:0001501)|tissue development (GO:0009888)	proteinaceous extracellular matrix (GO:0005578)|trans-Golgi network (GO:0005802)	heparin binding (GO:0008201)	p.A119T(1)		cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(16)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	59		Lung NSC(96;2.09e-05)|Prostate(109;0.0513)|Breast(139;0.0538)|Lung SC(185;0.0743)		all cancers(112;2.48e-08)|Epithelial(112;2.78e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000853)|BRCA - Breast invasive adenocarcinoma(63;0.013)|GBM - Glioblastoma multiforme(144;0.0154)		AGTTTTGAGGCGTCAGAATAG	0.453																																						ENST00000379747.4																			1	Substitution - Missense(1)	p.A119T(1)	large_intestine(1)	cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(16)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	59						c.(355-357)Gcc>Acc		periostin, osteoblast specific factor							113	98	103					13																	38164595		2203	4300	6503	SO:0001583	missense	10631				cell adhesion|skeletal system development	proteinaceous extracellular matrix	heparin binding	g.chr13:38164595C>T	D13665	CCDS9364.1, CCDS45034.1, CCDS53864.1, CCDS66530.1, CCDS66531.1	13q13.3	2008-02-05			ENSG00000133110	ENSG00000133110			16953	protein-coding gene	gene with protein product		608777				8363580, 12235007	Standard	NM_006475		Approved	OSF-2, PN, periostin	uc001uwo.4	Q15063	OTTHUMG00000016751	ENST00000379747.4:c.355G>A	13.37:g.38164595C>T	ENSP00000369071:p.Ala119Thr					POSTN_ENST00000541179.1_Missense_Mutation_p.A119T|POSTN_ENST00000379742.4_Missense_Mutation_p.A119T|POSTN_ENST00000541481.1_Missense_Mutation_p.A119T|POSTN_ENST00000379743.4_Missense_Mutation_p.A119T|POSTN_ENST00000379749.4_Missense_Mutation_p.A119T	p.A119T	NM_006475.2	NP_006466.2	Q15063	POSTN_HUMAN		all cancers(112;2.48e-08)|Epithelial(112;2.78e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000853)|BRCA - Breast invasive adenocarcinoma(63;0.013)|GBM - Glioblastoma multiforme(144;0.0154)	4	472	-		Lung NSC(96;2.09e-05)|Prostate(109;0.0513)|Breast(139;0.0538)|Lung SC(185;0.0743)	119			FAS1 1.		B1ALD8|C0IMJ1|C0IMJ2|C0IMJ4|D2KRH7|F5H628|Q15064|Q29XZ0|Q3KPJ5|Q5VSY5|Q8IZF9	Missense_Mutation	SNP	ENST00000379747.4	37	c.355G>A	CCDS9364.1	.	.	.	.	.	.	.	.	.	.	C	10.29	1.308940	0.23821	.	.	ENSG00000133110	ENST00000541179;ENST00000379749;ENST00000379747;ENST00000379743;ENST00000379742;ENST00000541481;ENST00000538347	D;D;D;D;D;D	0.90788	-2.73;-2.73;-2.73;-2.73;-2.73;-2.73	5.36	4.5	0.54988	FAS1 domain (4);	0.286888	0.37577	N	0.002026	D	0.86389	0.5921	M	0.81112	2.525	0.24986	N	0.99157	B;B;B;B;B;B;B	0.33318	0.408;0.236;0.018;0.236;0.355;0.014;0.018	B;B;B;B;B;B;B	0.27608	0.081;0.049;0.01;0.049;0.049;0.006;0.01	T	0.73126	-0.4081	10	0.13470	T	0.59	.	4.7453	0.13035	0.0:0.6147:0.1959:0.1894	.	119;119;119;119;119;119;119	C0IMJ4;F5H628;B1ALD8;Q15063-3;Q15063-4;Q15063-2;Q15063	.;.;.;.;.;.;POSTN_HUMAN	T	119;119;119;119;119;119;36	ENSP00000437959:A119T;ENSP00000369073:A119T;ENSP00000369071:A119T;ENSP00000369067:A119T;ENSP00000369066:A119T;ENSP00000437953:A119T	ENSP00000369066:A119T	A	-	1	0	POSTN	37062595	1.000000	0.71417	0.986000	0.45419	0.735000	0.41995	2.426000	0.44731	1.224000	0.43551	0.650000	0.86243	GCC		0.453	POSTN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000044566.2	NM_006475		6	19	0	0	0	1	0	6	19					T	38164595	C	T	38164595	3	4	376	1	0	0	0	0	1	0	0	0	12259	768	27	1	2235	1	POSTN	13	38164595	Missense_Mutation	SNP	C	TCGA-V1-A8WN-01A-11D-A377-08		38164595	77005283	13	18569											
RALGAPA1	253959	broad.mit.edu	37	chr14	36064859	36064859	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttttttggtcaaagaatcaTcagaatcagaaggcattctt	13	14	7	7	0	5	3	4	0	1	3	5	3	5	3	0	2	0	1	0	2	4	5			TCGA-V1-A8WN-01A-11D-A377-08	TCGA-V1-A8WN-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c37c3d52-109b-4aa9-91af-4599adb223f0	c2f36eb3-3972-4616-84d6-c570b24881f2	g.chr14:36064859T>C	ENST00000389698.3	-	36	6062	c.5672A>G	c.(5671-5673)gAt>gGt	p.D1891G	RALGAPA1_ENST00000307138.6_Missense_Mutation_p.D1891G|RALGAPA1_ENST00000382366.3_Missense_Mutation_p.D1904G|RALGAPA1_ENST00000258840.6_Missense_Mutation_p.D1938G	NM_014990.1	NP_055805.1	Q6GYQ0	RGPA1_HUMAN	Ral GTPase activating protein, alpha subunit 1 (catalytic)	1891	Minimal domain that binds to TCF3/E12. {ECO:0000250}.|Rap-GAP. {ECO:0000255|PROSITE- ProRule:PRU00165}.				activation of Ral GTPase activity (GO:0032859)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein heterodimerization activity (GO:0046982)|Ral GTPase activator activity (GO:0017123)			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(7)|large_intestine(14)|lung(21)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						CAAAGAATCATCAGAATCAGA	0.338																																						ENST00000258840.6																			0				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(7)|large_intestine(14)|lung(21)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						c.(5812-5814)gAt>gGt		Ral GTPase activating protein, alpha subunit 1 (catalytic)							141	140	140					14																	36064859		2202	4299	6501	SO:0001583	missense	253959				activation of Ral GTPase activity	cytosol|mitochondrion|nucleus	protein heterodimerization activity|Ral GTPase activator activity	g.chr14:36064859T>C	AK126975	CCDS32064.1, CCDS32065.1, CCDS61439.1	14q13.2	2012-01-26	2009-09-09	2009-09-09	ENSG00000174373	ENSG00000174373			17770	protein-coding gene	gene with protein product	"tuberin-like protein 1", "GAP-related interacting protein to E12"	608884	"GTPase activating RANGAP domain-like 1", "GTPase activating Rap/RanGAP domain-like 1"	GARNL1		19520869	Standard	NM_014990		Approved	GRIPE, DKFZp667F074, KIAA0884, Tulip1, RalGAPalpha1	uc001wtj.3	Q6GYQ0	OTTHUMG00000170619	ENST00000389698.3:c.5672A>G	14.37:g.36064859T>C	ENSP00000374348:p.Asp1891Gly					RALGAPA1_ENST00000382366.3_Missense_Mutation_p.D1904G|RALGAPA1_ENST00000307138.6_Missense_Mutation_p.D1891G|RALGAPA1_ENST00000389698.3_Missense_Mutation_p.D1891G	p.D1938G			Q6GYQ0	RGPA1_HUMAN			37	6203	-			1891			Minimal domain that binds to TCF3/E12 (By similarity).|Rap-GAP.		A6NMA4|B9EK38|C5NU19|O94960|Q6GYP9|Q6ZT23|Q86YF3|Q86YF5|Q8ND69	Missense_Mutation	SNP	ENST00000389698.3	37	c.5813A>G	CCDS32065.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	21.8|21.8	4.196015|4.196015	0.78902|0.78902	.|.	.|.	ENSG00000174373|ENSG00000174373	ENST00000389698;ENST00000307138;ENST00000335518;ENST00000258840;ENST00000554259;ENST00000382366;ENST00000553892|ENST00000554573	D;D;D;D;D;D|.	0.96232|.	-3.95;-3.95;-3.95;-3.95;-3.95;-3.95|.	5.23|5.23	5.23|5.23	0.72850|0.72850	Rap/ran-GAP (2);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.63861|0.63861	0.2547|0.2547	L|L	0.49571|0.49571	1.57|1.57	0.58432|0.58432	D|D	0.999994|0.999994	D;D;B;P|.	0.89917|.	0.999;1.0;0.302;0.932|.	D;D;B;P|.	0.87578|.	0.998;0.992;0.234;0.782|.	T|T	0.61584|0.61584	-0.7033|-0.7033	10|5	0.72032|.	D|.	0.01|.	-18.6724|-18.6724	15.4425|15.4425	0.75195|0.75195	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	1938;1904;1891;1891|.	Q6GYQ0-6;B9EK38;Q6GYQ0-2;Q6GYQ0|.	.;.;.;RGPA1_HUMAN|.	G|V	1891;1891;1891;1938;529;1904;1938|174	ENSP00000374348:D1891G;ENSP00000302647:D1891G;ENSP00000258840:D1938G;ENSP00000451133:D529G;ENSP00000371803:D1904G;ENSP00000451877:D1938G|.	ENSP00000258840:D1938G|.	D|M	-|-	2|1	0|0	RALGAPA1|RALGAPA1	35134610|35134610	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	7.997000|7.997000	0.88414|0.88414	2.100000|2.100000	0.63781|0.63781	0.533000|0.533000	0.62120|0.62120	GAT|ATG		0.338	RALGAPA1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000409829.1	XM_210022		20	104	0	0	0	1	0	20	104					C	36064859	T	C	36064859	3	2	376	1	0	0	0	0	1	0	0	0	13013	1435	50	4	611	4	RALGAPA1	14	36064859	Missense_Mutation	SNP	T	TCGA-V1-A8WN-01A-11D-A377-08		36064859	71284681	14	18570											
TRPM7	54822	broad.mit.edu	37	chr15	50920444	50920444	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtcaaatgcagatgcattagTacctaatcgaataaagaaaa	19	9	7	6	1	1	2	1	0	0	2	2	3	1	2	1	0	3	3	1	0	9	4			TCGA-V1-A8WN-01A-11D-A377-08	TCGA-V1-A8WN-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c37c3d52-109b-4aa9-91af-4599adb223f0	c2f36eb3-3972-4616-84d6-c570b24881f2	g.chr15:50920444T>C	ENST00000313478.7	-	11	1488	c.1207A>G	c.(1207-1209)Act>Gct	p.T403A	TRPM7_ENST00000560955.1_Missense_Mutation_p.T403A	NM_017672.4	NP_060142.3	Q96QT4	TRPM7_HUMAN	transient receptor potential cation channel, subfamily M, member 7	403					actomyosin structure organization (GO:0031032)|calcium ion transmembrane transport (GO:0070588)|calcium-dependent cell-matrix adhesion (GO:0016340)|cellular magnesium ion homeostasis (GO:0010961)|ion transmembrane transport (GO:0034220)|necroptotic process (GO:0070266)|protein autophosphorylation (GO:0046777)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	ATP binding (GO:0005524)|calcium channel activity (GO:0005262)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(17)|lung(13)|ovary(4)|pancreas(1)|skin(4)|stomach(3)	52				all cancers(107;0.000819)|GBM - Glioblastoma multiforme(94;0.0045)		GATGCATTAGTACCTAATCGA	0.353																																						ENST00000313478.7																			0				breast(3)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(17)|lung(13)|ovary(4)|pancreas(1)|skin(4)|stomach(3)	52						c.(1207-1209)Act>Gct		transient receptor potential cation channel, subfamily M, member 7							88	80	82					15																	50920444		1833	4078	5911	SO:0001583	missense	54822				cell death	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein serine/threonine kinase activity	g.chr15:50920444T>C	AF346629	CCDS42035.1, CCDS73725.1	15q21	2011-12-14				ENSG00000092439		"Voltage-gated ion channels / Transient receptor potential cation channels"	17994	protein-coding gene	gene with protein product		605692				11161216, 11385574, 16382100	Standard	XM_005254486		Approved	CHAK1, LTRPC7, TRP-PLIK	uc001zyt.4	Q96QT4		ENST00000313478.7:c.1207A>G	15.37:g.50920444T>C	ENSP00000320239:p.Thr403Ala					TRPM7_ENST00000560955.1_Missense_Mutation_p.T403A	p.T403A	NM_017672.4	NP_060142.3	Q96QT4	TRPM7_HUMAN		all cancers(107;0.000819)|GBM - Glioblastoma multiforme(94;0.0045)	11	1488	-			403					Q6ZMF5|Q86VJ4|Q8NBW2|Q9BXB2|Q9NXQ2	Missense_Mutation	SNP	ENST00000313478.7	37	c.1207A>G	CCDS42035.1	.	.	.	.	.	.	.	.	.	.	T	18.10	3.548463	0.65311	.	.	ENSG00000092439	ENST00000313478	T	0.26660	1.72	5.34	5.34	0.76211	.	0.047674	0.85682	D	0.000000	T	0.28928	0.0718	L	0.52364	1.645	0.80722	D	1	P	0.47762	0.9	B	0.44224	0.444	T	0.02226	-1.1192	10	0.32370	T	0.25	-19.6386	15.4845	0.75555	0.0:0.0:0.0:1.0	.	403	Q96QT4	TRPM7_HUMAN	A	403	ENSP00000320239:T403A	ENSP00000320239:T403A	T	-	1	0	TRPM7	48707736	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.841000	0.86834	2.240000	0.73641	0.533000	0.62120	ACT		0.353	TRPM7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000418604.1	NM_017672		19	123	0	0	0	1	0	19	123					C	50920444	T	C	50920444	3	2	376	1	0	0	0	0	1	0	0	0	16588	1638	57	4	4506	4	TRPM7	15	50920444	Missense_Mutation	SNP	T	TCGA-V1-A8WN-01A-11D-A377-08		50920444	51610948	15	18571											
CHD3	1107	broad.mit.edu	37	chr17	7798765	7798765	+	Frame_Shift_Del	DEL	C	C	-																															atggaaatccagatgtcccaCccccccgtcctcttcaaggc																										TCGA-V1-A8WN-01A-11D-A377-08	TCGA-V1-A8WN-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c37c3d52-109b-4aa9-91af-4599adb223f0	c2f36eb3-3972-4616-84d6-c570b24881f2	g.chr17:7798765delC	ENST00000330494.7	+	10	1762	c.1612delC	c.(1612-1614)cccfs	p.P539fs	CHD3_ENST00000380358.4_Frame_Shift_Del_p.P598fs|CHD3_ENST00000358181.4_Frame_Shift_Del_p.P539fs	NM_001005273.2	NP_001005273.1	Q12873	CHD3_HUMAN	chromodomain helicase DNA binding protein 3	539	Chromo 1. {ECO:0000255|PROSITE- ProRule:PRU00053}.				centrosome organization (GO:0051297)|chromatin assembly or disassembly (GO:0006333)|chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|spindle organization (GO:0007051)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|nucleolus (GO:0005730)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65		Prostate(122;0.202)				AGATGTCCCACCCCCCCGTCC	0.577																																						ENST00000380358.4																			0				breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65						c.(1789-1791)ccfs		chromodomain helicase DNA binding protein 3							130	103	112					17																	7798765		2203	4300	6503	SO:0001589	frameshift_variant	1107				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|zinc ion binding	g.chr17:7798765delC	U08379	CCDS32553.2, CCDS32554.1, CCDS32555.1	17p13	2013-01-28			ENSG00000170004	ENSG00000170004		"Zinc fingers, PHD-type"	1918	protein-coding gene	gene with protein product		602120				9326634, 7560064	Standard	NM_001005271		Approved	Mi-2a, ZFH, Mi2-ALPHA	uc002gjd.2	Q12873	OTTHUMG00000150427	ENST00000330494.7:c.1612delC	17.37:g.7798765delC	ENSP00000332628:p.Pro539fs					CHD3_ENST00000358181.4_Frame_Shift_Del_p.P539fs|CHD3_ENST00000330494.7_Frame_Shift_Del_p.P539fs	p.P598fs	NM_001005271.2	NP_001005271.2	Q12873	CHD3_HUMAN			10	1790	+		Prostate(122;0.202)	539					D3DTQ9|E9PG89|Q9Y4I0	Frame_Shift_Del	DEL	ENST00000330494.7	37	c.1789delC	CCDS32554.1																																																																																				0.577	CHD3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318050.1	NM_001005273		15	60						15	60	---	---	---	---	-	7798765	C	-	7798765	7	5	376	1	0	1	0	1	0	0	0	0	3326	507	18	0	1931	0	CHD3	17	7798765	Frame_Shift_Del	DEL	C	TCGA-V1-A8WN-01A-11D-A377-08		7798765	73396445	16	18572											
TUBB4	10382	broad.mit.edu	37	chr19	6496041	6496041	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gatgcggtctgggaactcctCgcggatcttactgatgagca	8	10	13	10	3	2	2	0	2	2	0	4	5	3	4	1	3	4	1	1	3	2	1			TCGA-V1-A8WN-01A-11D-A377-08	TCGA-V1-A8WN-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c37c3d52-109b-4aa9-91af-4599adb223f0	c2f36eb3-3972-4616-84d6-c570b24881f2	g.chr19:6496041C>T	ENST00000264071.2	-	4	840	c.469G>A	c.(469-471)Gag>Aag	p.E157K	TUBB4A_ENST00000601152.1_3'UTR|TUBB4A_ENST00000598006.1_3'UTR|CTD-2396E7.10_ENST00000596027.1_RNA|TUBB4A_ENST00000540257.1_Missense_Mutation_p.E157K|CTD-2396E7.9_ENST00000599292.1_RNA			P04350	TBB4A_HUMAN	tubulin, beta 4A class IVa	157					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based process (GO:0007017)|mitotic cell cycle (GO:0000278)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cilium (GO:0005929)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|internode region of axon (GO:0033269)|microtubule (GO:0005874)|myelin sheath (GO:0043209)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)										GGGAACTCCTCGCGGATCTTA	0.637																																						ENST00000264071.2																			0											c.(469-471)Gag>Aag		tubulin, beta 4A class IVa							168	133	145					19																	6496041		2203	4300	6503	SO:0001583	missense	10382				'de novo' posttranslational protein folding|G2/M transition of mitotic cell cycle|microtubule-based movement|protein polymerization	cytosol|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity	g.chr19:6496041C>T	AK075307	CCDS12168.1	19p13.3	2014-02-05	2011-10-11	2011-10-10	ENSG00000104833	ENSG00000104833		"Tubulins"	20774	protein-coding gene	gene with protein product	"class IVa beta-tubulin"	602662	"tubulin, beta 4", "tubulin, beta 4 class IVa", "dystonia 4, torsion (autosomal dominant)"	TUBB4, DYT4		6865944, 6462917, 23595291	Standard	NM_001289123		Approved	beta-5	uc002mfg.1	P04350		ENST00000264071.2:c.469G>A	19.37:g.6496041C>T	ENSP00000264071:p.Glu157Lys					TUBB4A_ENST00000601152.1_3'UTR|TUBB4A_ENST00000598006.1_3'UTR|TUBB4A_ENST00000540257.1_Missense_Mutation_p.E157K	p.E157K			P04350	TBB4_HUMAN			4	840	-			157					B3KQP4|Q969E5	Missense_Mutation	SNP	ENST00000264071.2	37	c.469G>A	CCDS12168.1	.	.	.	.	.	.	.	.	.	.	C	18.75	3.691610	0.68271	.	.	ENSG00000104833	ENST00000264071;ENST00000540257	T;T	0.70986	-0.53;-0.53	3.98	3.98	0.46160	.	0.000000	0.64402	D	0.000001	D	0.89326	0.6683	H	0.97611	4.04	0.58432	D	0.99999	D	0.89917	1.0	D	0.91635	0.999	D	0.93261	0.6643	10	0.87932	D	0	.	14.999	0.71455	0.0:1.0:0.0:0.0	.	157	P04350	TBB4A_HUMAN	K	157	ENSP00000264071:E157K;ENSP00000443590:E157K	ENSP00000264071:E157K	E	-	1	0	TUBB4	6447041	1.000000	0.71417	0.996000	0.52242	0.995000	0.86356	7.688000	0.84153	1.795000	0.52594	0.549000	0.68633	GAG		0.637	TUBB4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457841.1	NM_006087		17	89	0	0	0	1	0	17	89					T	6496041	C	T	6496041	3	4	376	1	0	0	0	0	1	0	0	0	16755	893	31	2	869	2	TUBB4	19	6496041	Missense_Mutation	SNP	C	TCGA-V1-A8WN-01A-11D-A377-08		6496041	52632942	17	18573											
NCOA3	8202	broad.mit.edu	37	chr20	46279833	46279833	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atgcagcagcagcagcagcaGcaacagcagcagcagcagca	15	1	12	13	0	0	0	0	0	0	0	0	0	0	0	0	0	13	12	0	0	1	0			TCGA-V1-A8WN-01A-11D-A377-08	TCGA-V1-A8WN-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c37c3d52-109b-4aa9-91af-4599adb223f0	c2f36eb3-3972-4616-84d6-c570b24881f2	g.chr20:46279833G>A	ENST00000371998.3	+	20	3950	c.3759G>A	c.(3757-3759)caG>caA	p.Q1253Q	NCOA3_ENST00000341724.6_Silent_p.Q1179Q|NCOA3_ENST00000372004.3_Silent_p.Q1249Q|NCOA3_ENST00000371997.3_Silent_p.Q1244Q			Q9Y6Q9	NCOA3_HUMAN	nuclear receptor coactivator 3	1253	Acetyltransferase.|Poly-Gln.				androgen receptor signaling pathway (GO:0030521)|developmental growth (GO:0048589)|histone acetylation (GO:0016573)|labyrinthine layer morphogenesis (GO:0060713)|mammary gland branching involved in thelarche (GO:0060744)|multicellular organism growth (GO:0035264)|positive regulation of gene expression (GO:0010628)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|receptor transactivation (GO:0035624)|regulation of RNA biosynthetic process (GO:2001141)|transcription, DNA-templated (GO:0006351)|vagina development (GO:0060068)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|histone acetyltransferase activity (GO:0004402)|ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nuclear hormone receptor binding (GO:0035257)|protein N-terminus binding (GO:0047485)|signal transducer activity (GO:0004871)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)			breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						agcagcagcagcaacagcagc	0.547																																						ENST00000372004.3																			0				breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						c.(3745-3747)caG>caA		nuclear receptor coactivator 3							46	53	50					20																	46279833		2202	4300	6502	SO:0001819	synonymous_variant	8202				androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleoplasm	androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding	g.chr20:46279833G>A	AF012108	CCDS13406.1, CCDS13407.1, CCDS54472.1	20q12	2011-07-01			ENSG00000124151	ENSG00000124151		"Chromatin-modifying enzymes / K-acetyltransferases", "Basic helix-loop-helix proteins"	7670	protein-coding gene	gene with protein product	"receptor-associated coactivator 3", "thyroid hormone receptor activator molecule 1"	601937				9252329, 9346901	Standard	NM_181659		Approved	RAC3, AIB1, ACTR, p/CIP, TRAM-1, CAGH16, TNRC16, KAT13B, bHLHe42, SRC-3, SRC3	uc002xtk.3	Q9Y6Q9	OTTHUMG00000033061	ENST00000371998.3:c.3759G>A	20.37:g.46279833G>A						NCOA3_ENST00000371997.3_Silent_p.Q1244Q|NCOA3_ENST00000371998.3_Silent_p.Q1253Q|NCOA3_ENST00000341724.6_Silent_p.Q1179Q	p.Q1249Q	NM_001174087.1|NM_001174088.1|NM_006534.3|NM_181659.2	NP_001167558.1|NP_001167559.1|NP_006525.2|NP_858045.1	Q9Y6Q9	NCOA3_HUMAN			20	3963	+			1253		Missing.	Acetyltransferase.|Poly-Gln.		A4LAZ5|Q0VF45|Q5JYD9|Q5JYE0|Q9BR49|Q9UPC9|Q9UPG4|Q9UPG7	Silent	SNP	ENST00000371998.3	37	c.3747G>A	CCDS13407.1																																																																																				0.547	NCOA3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080405.1	NM_006534		4	62	0	0	0	1	0	4	62					A	46279833	G	A	46279833	2	1	376	1	0	0	0	0	0	0	0	1	10230	962	34	3		3	NCOA3	20	46279833	Silent	SNP	G	TCGA-V1-A8WN-01A-11D-A377-08		46279833	16745687	18	18574											
GAL3ST1	9514	broad.mit.edu	37	chr22	30951159	30951159	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tggatggcggcggcgtccacGgcgtggcccccgtcgatgca	4	6	17	14	7	0	0	0	0	0	0	2	2	1	1	3	6	1	1	3	6	0	0			TCGA-V1-A8WN-01A-11D-A377-08	TCGA-V1-A8WN-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c37c3d52-109b-4aa9-91af-4599adb223f0	c2f36eb3-3972-4616-84d6-c570b24881f2	g.chr22:30951159G>A	ENST00000402321.1	-	3	1370	c.1053C>T	c.(1051-1053)gcC>gcT	p.A351A	GAL3ST1_ENST00000338911.5_Silent_p.A351A|GAL3ST1_ENST00000401975.1_Silent_p.A351A|GAL3ST1_ENST00000443111.2_Silent_p.A351A|GAL3ST1_ENST00000402369.1_Silent_p.A351A|GAL3ST1_ENST00000406361.1_Silent_p.A351A|GAL3ST1_ENST00000406955.1_Silent_p.A351A			Q99999	G3ST1_HUMAN	galactose-3-O-sulfotransferase 1	351					galactosylceramide biosynthetic process (GO:0006682)|glycosphingolipid metabolic process (GO:0006687)|myelination (GO:0042552)|protein N-linked glycosylation (GO:0006487)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)|sphingolipid metabolic process (GO:0006665)	Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	galactosylceramide sulfotransferase activity (GO:0001733)|sulfotransferase activity (GO:0008146)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	21						CGGCGTCCACGGCGTGGCCCC	0.706																																						ENST00000402321.1																			0				NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	21						c.(1051-1053)gcC>gcT		galactose-3-O-sulfotransferase 1							24	25	24					22																	30951159		2200	4295	6495	SO:0001819	synonymous_variant	9514				protein N-linked glycosylation	Golgi membrane|integral to plasma membrane|membrane fraction	galactosylceramide sulfotransferase activity	g.chr22:30951159G>A	D88667	CCDS13879.1	22q12.2	2007-04-02			ENSG00000128242	ENSG00000128242		"Sulfotransferases, membrane-bound"	24240	protein-coding gene	gene with protein product	"cerebroside (3' phosphoadenylylsulfate:galactosylceramide 3') sulfotransferase"	602300				9847074, 9030544	Standard	NM_004861		Approved	CST	uc003aii.1	Q99999	OTTHUMG00000151200	ENST00000402321.1:c.1053C>T	22.37:g.30951159G>A						GAL3ST1_ENST00000406955.1_Silent_p.A351A|GAL3ST1_ENST00000401975.1_Silent_p.A351A|GAL3ST1_ENST00000443111.2_Silent_p.A351A|GAL3ST1_ENST00000338911.5_Silent_p.A351A|GAL3ST1_ENST00000402369.1_Silent_p.A351A|GAL3ST1_ENST00000406361.1_Silent_p.A351A	p.A351A			Q99999	G3ST1_HUMAN			3	1370	-			351					Q96C63	Silent	SNP	ENST00000402321.1	37	c.1053C>T	CCDS13879.1																																																																																				0.706	GAL3ST1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321745.1	NM_004861		6	34	0	0	0	1	0	6	34					A	30951159	G	A	30951159	2	1	376	1	0	0	0	0	0	0	0	1	6197	1103	39	2		2	GAL3ST1	22	30951159	Silent	SNP	G	TCGA-V1-A8WN-01A-11D-A377-08		30951159	20353407	19	18575											
CYSLTR1	10800	broad.mit.edu	37	chrX	77529210	77529210	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatagtgtcatggcatgtggCagaagatactgtcagatttc	12	12	11	6	0	2	3	2	0	0	3	3	3	2	3	0	2	1	2	0	2	4	3			TCGA-V1-A8WN-01A-11D-A377-08	TCGA-V1-A8WN-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c37c3d52-109b-4aa9-91af-4599adb223f0	c2f36eb3-3972-4616-84d6-c570b24881f2	g.chrX:77529210C>A	ENST00000373304.3	-	3	326	c.34G>T	c.(34-36)Gcc>Tcc	p.A12S		NM_001282187.1|NM_001282188.1|NM_006639.3	NP_001269116.1|NP_001269117.1|NP_006630.1	Q9Y271	CLTR1_HUMAN	cysteinyl leukotriene receptor 1	12					defense response (GO:0006952)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|respiratory gaseous exchange (GO:0007585)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	leukotriene receptor activity (GO:0004974)			endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|skin(1)	14					Cinalukast(DB00587)|Montelukast(DB00471)|Nedocromil(DB00716)|Pranlukast(DB01411)|Zafirlukast(DB00549)	TGGCATGTGGCAGAAGATACT	0.378																																						ENST00000373304.3																			0				endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|skin(1)	14						c.(34-36)Gcc>Tcc		cysteinyl leukotriene receptor 1	Amlexanox(DB01025)|Cinalukast(DB00587)|Montelukast(DB00471)|Nedocromil(DB00716)|Pranlukast(DB01411)|Zafirlukast(DB00549)						168	130	143					X																	77529210		2203	4299	6502	SO:0001583	missense	0				elevation of cytosolic calcium ion concentration|respiratory gaseous exchange	integral to plasma membrane|membrane fraction	leukotriene receptor activity	g.chrX:77529210C>A	AF119711	CCDS14439.1	Xq13-q21	2012-08-10			ENSG00000173198	ENSG00000173198		"GPCR / Class A : Leukotriene receptors"	17451	protein-coding gene	gene with protein product		300201				10391245, 10462554	Standard	NM_006639		Approved	CysLT1, CysLT(1), CYSLT1R	uc004edb.3	Q9Y271	OTTHUMG00000021889	ENST00000373304.3:c.34G>T	X.37:g.77529210C>A	ENSP00000362401:p.Ala12Ser						p.A12S	NM_006639.2	NP_006630.1	Q9Y271	CLTR1_HUMAN			3	326	-			12					B2R954|D3DTE4|Q5JS94|Q8IV19	Missense_Mutation	SNP	ENST00000373304.3	37	c.34G>T	CCDS14439.1	.	.	.	.	.	.	.	.	.	.	C	0.008	-1.930316	0.00488	.	.	ENSG00000173198	ENST00000373304	T	0.68479	-0.33	4.15	3.26	0.37387	.	0.928471	0.09074	N	0.852364	T	0.39784	0.1091	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.31475	-0.9942	10	0.07644	T	0.81	.	4.6527	0.12603	0.2196:0.6615:0.0:0.1189	.	12	Q9Y271	CLTR1_HUMAN	S	12	ENSP00000362401:A12S	ENSP00000362401:A12S	A	-	1	0	CYSLTR1	77415866	0.000000	0.05858	0.723000	0.30687	0.389000	0.30415	0.372000	0.20467	0.543000	0.28864	0.456000	0.33151	GCC		0.378	CYSLTR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057315.1			4	73	1	0	0.00909568	1	0.00935556	4	73					A	77529210	C	A	77529210	3	1	376	1	0	0	0	0	1	0	0	0	4201	710	25	5	983	5	CYSLTR1	23	77529210	Missense_Mutation	SNP	C	TCGA-V1-A8WN-01A-11D-A377-08		77529210	77741350	20	18576											
MAMLD1	10046	broad.mit.edu	37	chrX	149642057	149642057	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagatcctcagcctggagacGtgtcaccgtctaacattgtg	10	10	10	11	2	3	2	2	0	1	2	4	3	4	2	3	1	2	0	3	1	2	2			TCGA-V1-A8WN-01A-11D-A377-08	TCGA-V1-A8WN-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c37c3d52-109b-4aa9-91af-4599adb223f0	c2f36eb3-3972-4616-84d6-c570b24881f2	g.chrX:149642057G>A	ENST00000370401.2	+	5	2333	c.2023G>A	c.(2023-2025)Gtg>Atg	p.V675M	MAMLD1_ENST00000432680.2_Intron|MAMLD1_ENST00000426613.2_Missense_Mutation_p.V650M|MAMLD1_ENST00000262858.5_Missense_Mutation_p.V675M|MAMLD1_ENST00000455522.2_Intron			Q13495	MAMD1_HUMAN	mastermind-like domain containing 1	675					male gonad development (GO:0008584)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				breast(1)|endometrium(4)|kidney(3)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)	37	Acute lymphoblastic leukemia(192;6.56e-05)					GCCTGGAGACGTGTCACCGTC	0.488																																						ENST00000370401.2																			0				breast(1)|endometrium(4)|kidney(3)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)	37						c.(2023-2025)Gtg>Atg		mastermind-like domain containing 1							165	134	145					X																	149642057		2203	4300	6503	SO:0001583	missense	10046				male gonad development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chrX:149642057G>A	U46023	CCDS14693.2, CCDS55525.1, CCDS55526.1	Xq28	2008-02-05	2008-01-03	2008-01-03	ENSG00000013619	ENSG00000013619			2568	protein-coding gene	gene with protein product		300120	"chromosome X open reading frame 6"	CXorf6		9169146, 17086185, 18162467	Standard	NM_001177465		Approved	CG1, F18	uc011mxu.2	Q13495	OTTHUMG00000024157	ENST00000370401.2:c.2023G>A	X.37:g.149642057G>A	ENSP00000359428:p.Val675Met					MAMLD1_ENST00000426613.2_Missense_Mutation_p.V650M|MAMLD1_ENST00000455522.2_Intron|MAMLD1_ENST00000432680.2_Intron|MAMLD1_ENST00000262858.5_Missense_Mutation_p.V675M	p.V675M			Q13495	MAMD1_HUMAN			5	2333	+	Acute lymphoblastic leukemia(192;6.56e-05)		675					B2RCQ4|B4DG93|B9EGA5	Missense_Mutation	SNP	ENST00000370401.2	37	c.2023G>A	CCDS14693.2	.	.	.	.	.	.	.	.	.	.	G	4.384	0.070782	0.08436	.	.	ENSG00000013619	ENST00000445612;ENST00000370401;ENST00000262858;ENST00000426613	T;T;T	0.64438	-0.1;-0.1;-0.1	3.89	-6.84	0.01687	.	1.891640	0.03072	N	0.157346	T	0.45875	0.1364	L	0.51422	1.61	0.09310	N	1	B;B	0.32893	0.255;0.389	B;B	0.18871	0.016;0.023	T	0.28427	-1.0044	10	0.52906	T	0.07	.	2.8316	0.05502	0.5087:0.2235:0.1539:0.1139	.	650;675	Q13495-4;Q13495	.;MAMD1_HUMAN	M	547;675;675;650	ENSP00000359428:V675M;ENSP00000262858:V675M;ENSP00000397438:V650M	ENSP00000262858:V675M	V	+	1	0	MAMLD1	149392715	0.000000	0.05858	0.000000	0.03702	0.177000	0.22998	-1.542000	0.02196	-2.307000	0.00653	-0.248000	0.11899	GTG		0.488	MAMLD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000060844.2	NM_005491		25	49	0	0	0	1	0	25	49					A	149642057	G	A	149642057	3	1	376	1	0	0	0	0	1	0	0	0	9208	1145	40	1	2037	1	MAMLD1	23	149642057	Missense_Mutation	SNP	G	TCGA-V1-A8WN-01A-11D-A377-08	72112847	149642057	5628503	21	18577											
AJAP1	55966	broad.mit.edu	37	chr1	4772288	4772288	+	Frame_Shift_Del	DEL	C	C	-																															ccaaggcaggactggccaagCccccagctgctgccaaatcc																										TCGA-V1-A8WS-01A-11D-A377-08	TCGA-V1-A8WS-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8340e524-5498-4243-b80f-416915f3604c	ba0467ad-64f1-43df-81e1-529e66e6e6fe	g.chr1:4772288delC	ENST00000378191.4	+	2	739	c.358delC	c.(358-360)cccfs	p.P121fs	AJAP1_ENST00000378190.3_Frame_Shift_Del_p.P121fs	NM_018836.3	NP_061324.1	Q9UKB5	AJAP1_HUMAN	adherens junctions associated protein 1	121					cell adhesion (GO:0007155)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|urinary_tract(1)	24	all_cancers(77;0.071)|Ovarian(185;0.0721)	all_cancers(23;1.77e-36)|all_epithelial(116;1.26e-21)|all_lung(118;3.51e-08)|Lung NSC(185;3.47e-06)|all_neural(13;8.84e-06)|all_hematologic(16;7.61e-05)|Breast(487;0.000507)|Renal(390;0.0007)|Colorectal(325;0.00117)|Hepatocellular(190;0.0071)|Glioma(11;0.0155)|Myeloproliferative disorder(586;0.0258)|Ovarian(437;0.0409)|Lung SC(97;0.133)|Medulloblastoma(700;0.215)		Epithelial(90;3.89e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.97e-19)|GBM - Glioblastoma multiforme(42;3.71e-19)|Colorectal(212;4.57e-06)|COAD - Colon adenocarcinoma(227;0.00019)|Kidney(185;0.000969)|BRCA - Breast invasive adenocarcinoma(365;0.00122)|STAD - Stomach adenocarcinoma(132;0.00578)|KIRC - Kidney renal clear cell carcinoma(229;0.0126)|READ - Rectum adenocarcinoma(331;0.0689)		ACTGGCCAAGCCCCCAGCTGC	0.726																																						ENST00000378191.4																			0				endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|urinary_tract(1)	24						c.(358-360)ccfs		adherens junctions associated protein 1							9	9	9					1																	4772288		2009	3977	5986	SO:0001589	frameshift_variant	55966				cell adhesion	adherens junction|apical plasma membrane|basolateral plasma membrane|integral to membrane		g.chr1:4772288delC	AF175409	CCDS54.1	1p36.32	2008-02-05	2008-01-08		ENSG00000196581	ENSG00000196581			30801	protein-coding gene	gene with protein product	"transmembrane protein SHREW1"	610972				14595118	Standard	NM_001042478		Approved	SHREW1, SHREW-1, MOT8	uc001aln.3	Q9UKB5	OTTHUMG00000000645	ENST00000378191.4:c.358delC	1.37:g.4772288delC	ENSP00000367433:p.Pro121fs					AJAP1_ENST00000378190.3_Frame_Shift_Del_p.P121fs	p.P121fs	NM_018836.3	NP_061324.1	Q9UKB5	AJAP1_HUMAN		Epithelial(90;3.89e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.97e-19)|GBM - Glioblastoma multiforme(42;3.71e-19)|Colorectal(212;4.57e-06)|COAD - Colon adenocarcinoma(227;0.00019)|Kidney(185;0.000969)|BRCA - Breast invasive adenocarcinoma(365;0.00122)|STAD - Stomach adenocarcinoma(132;0.00578)|KIRC - Kidney renal clear cell carcinoma(229;0.0126)|READ - Rectum adenocarcinoma(331;0.0689)	2	739	+	all_cancers(77;0.071)|Ovarian(185;0.0721)	all_cancers(23;1.77e-36)|all_epithelial(116;1.26e-21)|all_lung(118;3.51e-08)|Lung NSC(185;3.47e-06)|all_neural(13;8.84e-06)|all_hematologic(16;7.61e-05)|Breast(487;0.000507)|Renal(390;0.0007)|Colorectal(325;0.00117)|Hepatocellular(190;0.0071)|Glioma(11;0.0155)|Myeloproliferative disorder(586;0.0258)|Ovarian(437;0.0409)|Lung SC(97;0.133)|Medulloblastoma(700;0.215)	121					Q9Y229	Frame_Shift_Del	DEL	ENST00000378191.4	37	c.358delC	CCDS54.1																																																																																				0.726	AJAP1-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001542.3	NM_018836		2	4						2	4	---	---	---	---	-	4772288	C	-	4772288	7	5	377	1	0	1	0	1	0	0	0	0	438	739	26	0	364	0	AJAP1	1	4772288	Frame_Shift_Del	DEL	C	TCGA-V1-A8WS-01A-11D-A377-08		4772288	244478333	1	18578											
RPL11	6135	broad.mit.edu	37	chr1	24020353	24020353	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgaaaagattgctgtccacTgcacagttcgaggggccaag	12	8	12	9	1	0	2	0	1	0	1	2	3	1	2	2	2	2	3	2	2	3	2			TCGA-V1-A8WS-01A-11D-A377-08	TCGA-V1-A8WS-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8340e524-5498-4243-b80f-416915f3604c	ba0467ad-64f1-43df-81e1-529e66e6e6fe	g.chr1:24020353T>C	ENST00000374550.3	+	3	259	c.214T>C	c.(214-216)Tgc>Cgc	p.C72R	RPL11_ENST00000482370.1_3'UTR	NM_000975.3|NM_001199802.1	NP_000966.2|NP_001186731.1	P62913	RL11_HUMAN	ribosomal protein L11	72					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|protein localization to nucleus (GO:0034504)|protein targeting (GO:0006605)|ribosomal large subunit biogenesis (GO:0042273)|RNA metabolic process (GO:0016070)|rRNA processing (GO:0006364)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|rRNA binding (GO:0019843)|structural constituent of ribosome (GO:0003735)			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(2)	6		Colorectal(325;3.46e-05)|Lung NSC(340;0.000112)|all_lung(284;0.00016)|Renal(390;0.000219)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;2.13e-24)|Colorectal(126;5.06e-08)|COAD - Colon adenocarcinoma(152;2.92e-06)|GBM - Glioblastoma multiforme(114;4.4e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000954)|KIRC - Kidney renal clear cell carcinoma(1967;0.00322)|STAD - Stomach adenocarcinoma(196;0.0124)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0837)|LUSC - Lung squamous cell carcinoma(448;0.185)		TGCTGTCCACTGCACAGTTCG	0.478																																						ENST00000374550.3																			0				central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(2)	6						c.(214-216)Tgc>Cgc		ribosomal protein L11							112	96	102					1																	24020353		2203	4300	6503	SO:0001583	missense	6135				endocrine pancreas development|protein localization to nucleus|protein targeting|ribosomal large subunit biogenesis|rRNA processing|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|nucleolus	protein binding|rRNA binding|structural constituent of ribosome	g.chr1:24020353T>C	L05092	CCDS238.1	1p36.1-p35	2011-04-06			ENSG00000142676	ENSG00000142676		"L ribosomal proteins"	10301	protein-coding gene	gene with protein product		604175				9582194, 10343117	Standard	NM_000975		Approved	L11	uc001bhk.3	P62913	OTTHUMG00000002926	ENST00000374550.3:c.214T>C	1.37:g.24020353T>C	ENSP00000363676:p.Cys72Arg					RPL11_ENST00000482370.1_3'UTR	p.C72R	NM_000975.3|NM_001199802.1	NP_000966.2|NP_001186731.1	P62913	RL11_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;2.13e-24)|Colorectal(126;5.06e-08)|COAD - Colon adenocarcinoma(152;2.92e-06)|GBM - Glioblastoma multiforme(114;4.4e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000954)|KIRC - Kidney renal clear cell carcinoma(1967;0.00322)|STAD - Stomach adenocarcinoma(196;0.0124)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0837)|LUSC - Lung squamous cell carcinoma(448;0.185)	3	259	+		Colorectal(325;3.46e-05)|Lung NSC(340;0.000112)|all_lung(284;0.00016)|Renal(390;0.000219)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)	72					P25121|P39026|Q8TDH2|Q9Y674	Missense_Mutation	SNP	ENST00000374550.3	37	c.214T>C	CCDS238.1	.	.	.	.	.	.	.	.	.	.	T	28.0	4.884457	0.91814	.	.	ENSG00000142676	ENST00000374550;ENST00000443624;ENST00000458455	T;T;T	0.76709	-1.04;-1.04;-1.04	5.29	5.29	0.74685	Ribosomal protein L5 domain (2);	0.000000	0.85682	D	0.000000	D	0.90195	0.6935	H	0.94582	3.555	0.80722	D	1	P;P	0.45672	0.467;0.864	P;P	0.58577	0.754;0.841	D	0.92711	0.6183	10	0.87932	D	0	-5.9348	15.207	0.73186	0.0:0.0:0.0:1.0	.	71;72	P62913-2;P62913	.;RL11_HUMAN	R	72;70;70	ENSP00000363676:C72R;ENSP00000390839:C70R;ENSP00000398888:C70R	ENSP00000363676:C72R	C	+	1	0	RPL11	23892940	1.000000	0.71417	1.000000	0.80357	0.915000	0.54546	7.897000	0.87356	2.006000	0.58801	0.533000	0.62120	TGC		0.478	RPL11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008168.1	NM_000975		15	19	0	0	0	1	0	15	19					C	24020353	T	C	24020353	3	2	377	1	0	0	0	0	1	0	0	0	13557	1580	55	4	224	4	RPL11	1	24020353	Missense_Mutation	SNP	T	TCGA-V1-A8WS-01A-11D-A377-08	19248065	24020353	225230268	2	18579											
HIVEP3	59269	broad.mit.edu	37	chr1	41990537	41990537	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cctcacaaacatatttccctCggccgcggcctcgcacatat	9	9	6	17	4	1	0	1	0	0	0	4	0	2	0	4	2	1	1	4	2	3	3			TCGA-V1-A8WS-01A-11D-A377-08	TCGA-V1-A8WS-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8340e524-5498-4243-b80f-416915f3604c	ba0467ad-64f1-43df-81e1-529e66e6e6fe	g.chr1:41990537C>T	ENST00000372583.1	-	6	6137	c.5252G>A	c.(5251-5253)cGa>cAa	p.R1751Q	HIVEP3_ENST00000372584.1_Missense_Mutation_p.R1751Q|HIVEP3_ENST00000460604.1_Intron|HIVEP3_ENST00000247584.5_Missense_Mutation_p.R1751Q|HIVEP3_ENST00000429157.2_Missense_Mutation_p.R1751Q	NM_024503.4	NP_078779.2	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	1751					positive regulation of transcription, DNA-templated (GO:0045893)|skeletal muscle cell differentiation (GO:0035914)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				ATATTTCCCTCGGCCGCGGCC	0.507																																						ENST00000372584.1																			0				NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85						c.(5251-5253)cGa>cAa		human immunodeficiency virus type I enhancer binding protein 3							146	123	130					1																	41990537		2203	4300	6503	SO:0001583	missense	59269				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding	g.chr1:41990537C>T	AF278765	CCDS463.1, CCDS44124.1	1p34	2013-01-08	2001-11-28		ENSG00000127124	ENSG00000127124		"Zinc fingers, C2H2-type"	13561	protein-coding gene	gene with protein product	"kappabinding protein-1"	606649	"human immunodeficiency virus type I enhancer-binding protein 3"			11161801	Standard	NR_038260		Approved	KRC, KBP1, KBP-1, SHN3, FLJ16752, KIAA1555, ZAS3, Schnurri-3, ZNF40C	uc001cha.4	Q5T1R4	OTTHUMG00000006361	ENST00000372583.1:c.5252G>A	1.37:g.41990537C>T	ENSP00000361664:p.Arg1751Gln					HIVEP3_ENST00000372583.1_Missense_Mutation_p.R1751Q|HIVEP3_ENST00000247584.5_Missense_Mutation_p.R1751Q|HIVEP3_ENST00000460604.1_Intron|HIVEP3_ENST00000429157.2_Missense_Mutation_p.R1751Q	p.R1751Q	NM_001127714.2	NP_001121186.1	Q5T1R4	ZEP3_HUMAN			5	6266	-	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)	1751					A7YY91|Q5T1R5|Q9BZS0|Q9HCL7	Missense_Mutation	SNP	ENST00000372583.1	37	c.5252G>A	CCDS463.1	.	.	.	.	.	.	.	.	.	.	C	35	5.594431	0.96602	.	.	ENSG00000127124	ENST00000372584;ENST00000372583;ENST00000247584;ENST00000429157	T;T;T;T	0.09817	2.95;2.94;2.94;2.95	4.85	4.85	0.62838	.	0.000000	0.39759	N	0.001271	T	0.37073	0.0990	M	0.80183	2.485	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.25257	-1.0137	10	0.72032	D	0.01	-5.7784	17.7486	0.88428	0.0:1.0:0.0:0.0	.	1751;1751	Q5T1R4-2;Q5T1R4	.;ZEP3_HUMAN	Q	1751	ENSP00000361665:R1751Q;ENSP00000361664:R1751Q;ENSP00000247584:R1751Q;ENSP00000410828:R1751Q	ENSP00000247584:R1751Q	R	-	2	0	HIVEP3	41763124	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.609000	0.82925	2.520000	0.84964	0.561000	0.74099	CGA		0.507	HIVEP3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000016978.1	NM_024503		24	41	0	0	0	1	0	24	41					T	41990537	C	T	41990537	3	4	377	1	0	0	0	0	1	0	0	0	7188	884	31	2	1984	2	HIVEP3	1	41990537	Missense_Mutation	SNP	C	TCGA-V1-A8WS-01A-11D-A377-08	17970184	41990537	207260084	3	18580											
SPTA1	6708	broad.mit.edu	37	chr1	158648191	158648191	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agcagtggccagatccatacCttttgaatcgttgtaagttt	10	14	9	8	1	0	2	0	1	0	1	2	2	1	2	3	1	2	4	3	1	3	6			TCGA-V1-A8WS-01A-11D-A377-08	TCGA-V1-A8WS-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8340e524-5498-4243-b80f-416915f3604c	ba0467ad-64f1-43df-81e1-529e66e6e6fe	g.chr1:158648191C>A	ENST00000368147.4	-	6	992	c.812G>T	c.(811-813)aGg>aTg	p.R271M		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	271					actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					AGATCCATACCTTTTGAATCG	0.423																																						ENST00000368148.3																			0				NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307						c.e6+1		spectrin, alpha, erythrocytic 1 (elliptocytosis 2)							125	114	117					1																	158648191		1856	4100	5956	SO:0001630	splice_region_variant	6708				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	g.chr1:158648191C>A	M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"EF-hand domain containing"	11272	protein-coding gene	gene with protein product	"elliptocytosis 2"	182860	"spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.812+1G>T	1.37:g.158648191C>A						SPTA1_ENST00000368147.3_Splice_Site_p.R271_splice	p.R271_splice	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN			6	992	-	all_hematologic(112;0.0378)		271					Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Splice_Site	SNP	ENST00000368147.4	37	c.812_splice	CCDS41423.1	.	.	.	.	.	.	.	.	.	.	C	18.51	3.640599	0.67244	.	.	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.55234	0.53;0.53	4.66	4.66	0.58398	.	0.000000	0.34628	N	0.003817	T	0.74711	0.3752	M	0.91459	3.21	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.80484	-0.1362	9	.	.	.	.	16.6455	0.85176	0.0:1.0:0.0:0.0	.	271	P02549	SPTA1_HUMAN	M	271	ENSP00000357130:R271M;ENSP00000357129:R271M	.	R	-	2	0	SPTA1	156914815	1.000000	0.71417	1.000000	0.80357	0.215000	0.24574	6.719000	0.74718	2.572000	0.86782	0.650000	0.86243	AGG		0.423	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126	Missense_Mutation	4	72	1	0	2.56e-06	1	2.62737e-06	4	72					A	158648191	C	A	158648191	5	1	377	1	0	0	0	0	0	0	1	0	15115	695	24	5	6635	5	SPTA1	1	158648191	Splice_Site	SNP	C	TCGA-V1-A8WS-01A-11D-A377-08	116657654	158648191	90602430	4	18581											
WDR33	55339	broad.mit.edu	37	chr2	128480231	128480231	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaggtacttttttctgatcCttttgcatcacttcctccat	6	19	5	11	0	2	2	1	2	1	0	5	2	5	2	3	1	2	2	3	1	1	7			TCGA-V1-A8WS-01A-11D-A377-08	TCGA-V1-A8WS-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8340e524-5498-4243-b80f-416915f3604c	ba0467ad-64f1-43df-81e1-529e66e6e6fe	g.chr2:128480231C>A	ENST00000322313.4	-	14	1610	c.1452G>T	c.(1450-1452)aaG>aaT	p.K484N		NM_018383.4	NP_060853.3	Q9C0J8	WDR33_HUMAN	WD repeat domain 33	484					mRNA processing (GO:0006397)|postreplication repair (GO:0006301)|spermatogenesis (GO:0007283)	collagen trimer (GO:0005581)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0695)		TTTTCTGATCCTTTTGCATCA	0.408																																						ENST00000322313.4																			0				NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39						c.(1450-1452)aaG>aaT		WD repeat domain 33							226	208	215					2																	128480231		2203	4300	6503	SO:0001583	missense	55339				postreplication repair|spermatogenesis	collagen|nucleus	protein binding	g.chr2:128480231C>A		CCDS2150.1, CCDS42746.1, CCDS46407.1	2q21.1	2013-01-09			ENSG00000136709	ENSG00000136709		"WD repeat domain containing"	25651	protein-coding gene	gene with protein product						11162572	Standard	NM_001006622		Approved	FLJ11294, WDC146, NET14	uc002tpg.2	Q9C0J8	OTTHUMG00000131534	ENST00000322313.4:c.1452G>T	2.37:g.128480231C>A	ENSP00000325377:p.Lys484Asn						p.K484N	NM_018383.4	NP_060853.3	Q9C0J8	WDR33_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0695)	14	1610	-	Colorectal(110;0.1)		484					Q05DP8|Q53FG9|Q587J1|Q69YF7|Q6NUQ0|Q9NUL1	Missense_Mutation	SNP	ENST00000322313.4	37	c.1452G>T	CCDS2150.1	.	.	.	.	.	.	.	.	.	.	C	14.67	2.605356	0.46423	.	.	ENSG00000136709	ENST00000322313	D	0.89810	-2.57	5.52	3.74	0.42951	.	0.107469	0.64402	D	0.000004	T	0.78240	0.4252	N	0.14661	0.345	0.80722	D	1	P	0.37781	0.608	B	0.37943	0.261	T	0.72443	-0.4292	10	0.29301	T	0.29	-14.5444	9.2666	0.37645	0.0:0.7812:0.0:0.2188	.	484	Q9C0J8	WDR33_HUMAN	N	484	ENSP00000325377:K484N	ENSP00000325377:K484N	K	-	3	2	WDR33	128196701	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.038000	0.30254	0.701000	0.31803	0.650000	0.86243	AAG		0.408	WDR33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331141.2	NM_018383		4	62	1	0	0.00909568	1	0.00909568	4	62					A	128480231	C	A	128480231	3	1	377	1	0	0	0	0	1	0	0	0	17284	680	24	5	2594	5	WDR33	2	128480231	Missense_Mutation	SNP	C	TCGA-V1-A8WS-01A-11D-A377-08		128480231	114719142	5	18582											
C4orf17	84103	broad.mit.edu	37	chr4	100434271	100434271	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cccccgacatctgctcttcaGatcgagggcaaaggcagcca	10	6	10	15	2	3	1	1	0	2	1	4	3	3	1	3	2	2	3	3	2	1	1			TCGA-V1-A8WS-01A-11D-A377-08	TCGA-V1-A8WS-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8340e524-5498-4243-b80f-416915f3604c	ba0467ad-64f1-43df-81e1-529e66e6e6fe	g.chr4:100434271G>A	ENST00000326581.4	+	2	395	c.33G>A	c.(31-33)caG>caA	p.Q11Q	C4orf17_ENST00000514652.1_Silent_p.Q11Q	NM_032149.2	NP_115525.2	Q53FE4	CD017_HUMAN	chromosome 4 open reading frame 17	11										central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|prostate(1)|urinary_tract(3)	18				OV - Ovarian serous cystadenocarcinoma(123;2.08e-08)		CTGCTCTTCAGATCGAGGGCA	0.463																																						ENST00000514652.1																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|prostate(1)|urinary_tract(3)	18						c.(31-33)caG>caA		chromosome 4 open reading frame 17							98	81	87					4																	100434271		2203	4300	6503	SO:0001819	synonymous_variant	84103							g.chr4:100434271G>A	AL136838	CCDS3649.1	4q23	2008-02-05			ENSG00000138813	ENSG00000138813			25274	protein-coding gene	gene with protein product						11230166	Standard	NM_032149		Approved	DKFZP434G072	uc003huw.3	Q53FE4	OTTHUMG00000131027	ENST00000326581.4:c.33G>A	4.37:g.100434271G>A						C4orf17_ENST00000326581.4_Silent_p.Q11Q	p.Q11Q			Q53FE4	CD017_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;2.08e-08)	2	387	+			11					Q6FI84|Q6IS77|Q8NA78|Q9H0D9	Silent	SNP	ENST00000326581.4	37	c.33G>A	CCDS3649.1																																																																																				0.463	C4orf17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253670.2	NM_032149		8	51	0	0	0	1	0	8	51					A	100434271	G	A	100434271	2	1	377	1	0	0	0	0	0	0	0	1	2252	933	33	3		3	C4orf17	4	100434271	Silent	SNP	G	TCGA-V1-A8WS-01A-11D-A377-08		100434271	90720005	6	18583											
ANK2	287	broad.mit.edu	37	chr4	114279596	114279596	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gataggggtgatgattctccCgattcttccccagaagaaca	11	10	10	10	1	2	4	0	2	2	2	4	6	3	4	3	2	1	0	3	2	3	4	rs144939151		TCGA-V1-A8WS-01A-11D-A377-08	TCGA-V1-A8WS-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8340e524-5498-4243-b80f-416915f3604c	ba0467ad-64f1-43df-81e1-529e66e6e6fe	g.chr4:114279596C>A	ENST00000357077.4	+	38	9875	c.9822C>A	c.(9820-9822)ccC>ccA	p.P3274P	ANK2_ENST00000394537.3_Intron|ANK2_ENST00000510275.2_Intron|ANK2_ENST00000509550.1_Intron|ANK2_ENST00000264366.6_Silent_p.P3241P|ANK2_ENST00000506722.1_Intron	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	3274					atrial cardiac muscle cell action potential (GO:0086014)|atrial cardiac muscle cell to AV node cell communication (GO:0086066)|atrial septum development (GO:0003283)|axon guidance (GO:0007411)|cardiac muscle contraction (GO:0060048)|cellular calcium ion homeostasis (GO:0006874)|cellular protein localization (GO:0034613)|membrane depolarization during SA node cell action potential (GO:0086046)|paranodal junction assembly (GO:0030913)|positive regulation of calcium ion transmembrane transporter activity (GO:1901021)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cation channel activity (GO:2001259)|positive regulation of gene expression (GO:0010628)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein localization to cell surface (GO:0034394)|protein localization to endoplasmic reticulum (GO:0070972)|protein localization to M-band (GO:0036309)|protein localization to organelle (GO:0033365)|protein localization to plasma membrane (GO:0072659)|protein localization to T-tubule (GO:0036371)|protein stabilization (GO:0050821)|protein targeting to plasma membrane (GO:0072661)|regulation of calcium ion transmembrane transporter activity (GO:1901019)|regulation of calcium ion transport (GO:0051924)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to methylmercury (GO:0051597)|SA node cell action potential (GO:0086015)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|T-tubule organization (GO:0033292)|ventricular cardiac muscle cell action potential (GO:0086005)	A band (GO:0031672)|basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intracellular (GO:0005622)|M band (GO:0031430)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|potassium channel regulator activity (GO:0015459)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)	p.P3274P(1)		NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		ATGATTCTCCCGATTCTTCCC	0.438																																						ENST00000357077.4																			1	Substitution - coding silent(1)	p.P3274P(1)	lung(1)	NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248						c.(9820-9822)ccC>ccA		ankyrin 2, neuronal							102	99	100					4																	114279596		2203	4300	6503	SO:0001819	synonymous_variant	287				axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding	g.chr4:114279596C>A	M37123	CCDS3702.1, CCDS43261.1, CCDS54796.1	4q25-q26	2014-09-17	2003-03-12		ENSG00000145362	ENSG00000145362		"Ankyrin repeat domain containing"	493	protein-coding gene	gene with protein product		106410	"long (electrocardiographic) QT syndrome 4"	LQT4		7485162, 12571597	Standard	NM_001148		Approved		uc003ibe.4	Q01484	OTTHUMG00000132912	ENST00000357077.4:c.9822C>A	4.37:g.114279596C>A						ANK2_ENST00000510275.2_Intron|ANK2_ENST00000506722.1_Intron|ANK2_ENST00000509550.1_Intron|ANK2_ENST00000264366.6_Silent_p.P3241P|ANK2_ENST00000394537.3_Intron	p.P3274P	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)	38	9875	+		Ovarian(17;0.0448)|Hepatocellular(203;0.218)	3241					Q01485|Q08AC7|Q08AC8|Q7Z3L5	Silent	SNP	ENST00000357077.4	37	c.9822C>A	CCDS3702.1																																																																																				0.438	ANK2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256422.2	NM_001148		6	86	1	0	5.9392e-07	1	6.26024e-07	6	86					A	114279596	C	A	114279596	2	1	377	1	0	0	0	0	0	0	0	1	621	639	23	5		5	ANK2	4	114279596	Silent	SNP	C	TCGA-V1-A8WS-01A-11D-A377-08	13845325	114279596	76874680	7	18584											
PCDHGB7	56099	broad.mit.edu	37	chr5	140798188	140798188	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agggttagccttcgggaagaCgtgcctccaggcacctccat	8	8	12	13	2	0	1	0	0	0	1	3	2	2	2	5	3	2	2	5	3	2	2			TCGA-V1-A8WS-01A-11D-A377-08	TCGA-V1-A8WS-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8340e524-5498-4243-b80f-416915f3604c	ba0467ad-64f1-43df-81e1-529e66e6e6fe	g.chr5:140798188C>T	ENST00000398594.2	+	1	762	c.762C>T	c.(760-762)gaC>gaT	p.D254D	PCDHGA8_ENST00000398604.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA11_ENST00000518882.1_5'Flank|PCDHGA4_ENST00000571252.1_Intron|PCDHGA11_ENST00000398587.2_5'Flank|PCDHGB3_ENST00000576222.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA5_ENST00000518069.1_Intron	NM_018927.3	NP_061750.1	Q9Y5F8	PCDGJ_HUMAN	protocadherin gamma subfamily B, 7	254	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(13)|lung(15)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(3)	56			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTCGGGAAGACGTGCCTCCAG	0.537																																						ENST00000398594.2																			0				central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(13)|lung(15)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(3)	56						c.(760-762)gaC>gaT									74	77	76					5																	140798188		2047	4195	6242	SO:0001819	synonymous_variant	0							g.chr5:140798188C>T	AF152523	CCDS47293.1, CCDS75344.1	5q31	2010-01-26			ENSG00000254122	ENSG00000254122		"Cadherins / Protocadherins : Clustered"	8714	other	protocadherin	"cadherin ME6"	606304				10380929	Standard	NM_032101		Approved	ME6, PCDH-GAMMA-B7		Q9Y5F8	OTTHUMG00000164054	ENST00000398594.2:c.762C>T	5.37:g.140798188C>T						PCDHGB6_ENST00000520790.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA9_ENST00000573521.1_Intron	p.D254D	NM_018927.3	NP_061750.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	762	+								Q9UN63	Silent	SNP	ENST00000398594.2	37	c.762C>T	CCDS47293.1																																																																																				0.537	PCDHGB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376973.1	NM_018927		4	39	0	0	0	1	0	4	39					T	140798188	C	T	140798188	2	4	377	1	0	0	0	0	0	0	0	1	11568	535	19	1		1	PCDHGB7	5	140798188	Silent	SNP	C	TCGA-V1-A8WS-01A-11D-A377-08		140798188	40117072	8	18585											
PROP1	5626	broad.mit.edu	37	chr5	177419968	177419968	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggcaagaagctggaaaaggcGgcaggagacagatgggccag	14	2	18	7	1	0	3	0	0	0	3	0	5	0	4	1	6	1	3	1	6	4	0	rs200977367		TCGA-V1-A8WS-01A-11D-A377-08	TCGA-V1-A8WS-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8340e524-5498-4243-b80f-416915f3604c	ba0467ad-64f1-43df-81e1-529e66e6e6fe	g.chr5:177419968G>A	ENST00000308304.2	-	3	731	c.423C>T	c.(421-423)gcC>gcT	p.A141A		NM_006261.4	NP_006252	O75360	PROP1_HUMAN	PROP paired-like homeobox 1	141					blood vessel development (GO:0001568)|canonical Wnt signaling pathway (GO:0060070)|cell migration (GO:0016477)|central nervous system development (GO:0007417)|dorsal/ventral pattern formation (GO:0009953)|hypophysis morphogenesis (GO:0048850)|hypothalamus cell differentiation (GO:0021979)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|somatotropin secreting cell differentiation (GO:0060126)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|sequence-specific DNA binding (GO:0043565)			endometrium(1)|large_intestine(2)|lung(9)|stomach(1)	13	all_cancers(89;0.00176)|Renal(175;0.000269)|Lung NSC(126;0.00858)|all_lung(126;0.0139)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TGGAAAAGGCGGCAGGAGACA	0.587																																						ENST00000308304.2																			0				endometrium(1)|large_intestine(2)|lung(9)|stomach(1)	13						c.(421-423)gcC>gcT		PROP paired-like homeobox 1							154	140	145					5																	177419968		2203	4300	6503	SO:0001819	synonymous_variant	5626				central nervous system development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr5:177419968G>A	AF076215	CCDS4430.1	5q35.3	2011-06-20	2007-07-12		ENSG00000175325	ENSG00000175325		"Homeoboxes / PRD class"	9455	protein-coding gene	gene with protein product		601538	"prophet of Pit1, paired-like homeodomain transcription factor"			9462743	Standard	NM_006261		Approved		uc003mif.1	O75360	OTTHUMG00000130887	ENST00000308304.2:c.423C>T	5.37:g.177419968G>A							p.A141A	NM_006261.4	NP_006252.3	O75360	PROP1_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		3	731	-	all_cancers(89;0.00176)|Renal(175;0.000269)|Lung NSC(126;0.00858)|all_lung(126;0.0139)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	141						Silent	SNP	ENST00000308304.2	37	c.423C>T	CCDS4430.1																																																																																				0.587	PROP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253472.1	NM_006261		3	14	0	0	0	1	0	3	14					A	177419968	G	A	177419968	2	1	377	1	0	0	0	0	0	0	0	1	12557	1103	39	2		2	PROP1	5	177419968	Silent	SNP	G	TCGA-V1-A8WS-01A-11D-A377-08	36621780	177419968	3495292	9	18586											
C6orf165	154313	broad.mit.edu	37	chr6	88120351	88120351	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atggctttaacatggatagaAccctcatgaaaagtgatgtg	14	11	10	6	0	1	3	1	2	0	1	1	4	1	4	1	2	2	1	1	2	5	3			TCGA-V1-A8WS-01A-11D-A377-08	TCGA-V1-A8WS-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8340e524-5498-4243-b80f-416915f3604c	ba0467ad-64f1-43df-81e1-529e66e6e6fe	g.chr6:88120351A>G	ENST00000507897.1	+	3	240	c.157A>G	c.(157-159)Acc>Gcc	p.T53A	C6ORF165_ENST00000369562.4_Missense_Mutation_p.T53A			Q8IYR0	CF165_HUMAN	chromosome 6 open reading frame 165	53										NS(1)|central_nervous_system(1)|large_intestine(5)|lung(8)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575)		BRCA - Breast invasive adenocarcinoma(108;0.0419)		CATGGATAGAACCCTCATGAA	0.353																																						ENST00000507897.1																			0				NS(1)|central_nervous_system(1)|large_intestine(5)|lung(8)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(157-159)Acc>Gcc		chromosome 6 open reading frame 165							167	161	163					6																	88120351		2203	4300	6503	SO:0001583	missense	154313							g.chr6:88120351A>G	BC035083	CCDS34498.1	6q15	2012-02-07			ENSG00000213204	ENSG00000213204			21405	protein-coding gene	gene with protein product							Standard	NM_001031743		Approved	FLJ25974, dJ382I10.1	uc003plv.3	Q8IYR0	OTTHUMG00000015173	ENST00000507897.1:c.157A>G	6.37:g.88120351A>G	ENSP00000426769:p.Thr53Ala					C6ORF165_ENST00000369562.4_Missense_Mutation_p.T53A	p.T53A			Q8IYR0	CF165_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0419)	3	240	+		all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575)	53					A8K969|E1P507|Q8N9U4	Missense_Mutation	SNP	ENST00000507897.1	37	c.157A>G	CCDS34498.1	.	.	.	.	.	.	.	.	.	.	A	10.39	1.337952	0.24253	.	.	ENSG00000213204	ENST00000369562;ENST00000480123	T;T	0.31510	1.49;1.5	5.73	1.97	0.26223	.	0.392990	0.28952	N	0.013612	T	0.07999	0.0200	L	0.33753	1.03	0.37944	D	0.932425	B;B	0.14438	0.01;0.005	B;B	0.12837	0.008;0.004	T	0.18053	-1.0349	10	0.14656	T	0.56	.	9.9455	0.41607	0.8061:0.0:0.1939:0.0	.	53;53	Q8IYR0;E1P509	CF165_HUMAN;.	A	53	ENSP00000358575:T53A;ENSP00000422494:T53A	ENSP00000358575:T53A	T	+	1	0	C6orf165	88177070	0.775000	0.28604	0.778000	0.31720	0.926000	0.56050	2.276000	0.43408	0.155000	0.19261	-0.256000	0.11100	ACC		0.353	C6orf165-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	nonsense_mediated_decay	protein_coding	OTTHUMT00000470406.1	NM_178823		3	44	0	0	0	1	0	3	44					G	88120351	A	G	88120351	3	3	377	1	0	0	0	0	1	0	0	0	2341	43	2	4	163	4	C6orf165	6	88120351	Missense_Mutation	SNP	A	TCGA-V1-A8WS-01A-11D-A377-08		88120351	82994716	10	18587											
ZNF804B	219578	broad.mit.edu	37	chr7	88964899	88964899	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aatgtattacttgaataaaaGcaagagaaatcaagagtctt	19	11	7	4	0	2	3	1	1	1	2	2	4	2	3	0	0	2	2	0	0	9	5			TCGA-V1-A8WS-01A-11D-A377-08	TCGA-V1-A8WS-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8340e524-5498-4243-b80f-416915f3604c	ba0467ad-64f1-43df-81e1-529e66e6e6fe	g.chr7:88964899G>A	ENST00000333190.4	+	4	3212	c.2603G>A	c.(2602-2604)aGc>aAc	p.S868N		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	868							metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			TTGAATAAAAGCAAGAGAAAT	0.428										HNSCC(36;0.09)																												ENST00000333190.4																			0				NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144						c.(2602-2604)aGc>aAc		zinc finger protein 804B							59	61	60					7																	88964899		2203	4299	6502	SO:0001583	missense	219578					intracellular	zinc ion binding	g.chr7:88964899G>A	AK056672	CCDS5613.1	7q21.13	2012-10-05	2006-12-18		ENSG00000182348	ENSG00000182348			21958	protein-coding gene	gene with protein product			"zinc finger 804B"				Standard	NM_181646		Approved	FLJ32110	uc011khi.2	A4D1E1	OTTHUMG00000131037	ENST00000333190.4:c.2603G>A	7.37:g.88964899G>A	ENSP00000329638:p.Ser868Asn	HNSCC(36;0.09)					p.S868N	NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	STAD - Stomach adenocarcinoma(171;0.0513)		4	3212	+	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		868					B2RTV2|Q7Z714|Q96MN7	Missense_Mutation	SNP	ENST00000333190.4	37	c.2603G>A	CCDS5613.1	.	.	.	.	.	.	.	.	.	.	G	0.003	-2.433805	0.00182	.	.	ENSG00000182348	ENST00000333190	T	0.04970	3.52	5.19	-0.156	0.13391	.	0.986976	0.08296	N	0.967700	T	0.03011	0.0089	N	0.12746	0.255	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.48399	-0.9039	10	0.19590	T	0.45	0.3201	2.1747	0.03859	0.4814:0.1313:0.2534:0.1339	.	868	A4D1E1	Z804B_HUMAN	N	868	ENSP00000329638:S868N	ENSP00000329638:S868N	S	+	2	0	ZNF804B	88802835	0.179000	0.23135	0.001000	0.08648	0.007000	0.05969	0.442000	0.21628	-0.210000	0.10140	-0.169000	0.13324	AGC		0.428	ZNF804B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253683.2	NM_181646		15	35	0	0	0	1	0	15	35					A	88964899	G	A	88964899	3	1	377	1	0	0	0	0	1	0	0	0	18168	971	34	3	2617	3	ZNF804B	7	88964899	Missense_Mutation	SNP	G	TCGA-V1-A8WS-01A-11D-A377-08		88964899	70173764	11	18588											
PON2	5445	broad.mit.edu	37	chr7	95039375	95039375	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agtagtggtcatttgtggcaTagaaatgtgccggtccaaca	11	11	12	7	1	1	1	1	0	0	1	2	1	2	1	2	3	2	2	2	3	4	3			TCGA-V1-A8WS-01A-11D-A377-08	TCGA-V1-A8WS-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8340e524-5498-4243-b80f-416915f3604c	ba0467ad-64f1-43df-81e1-529e66e6e6fe	g.chr7:95039375T>C	ENST00000222572.3	-	6	779	c.533A>G	c.(532-534)tAt>tGt	p.Y178C	PON2_ENST00000483292.1_5'UTR|PON2_ENST00000433091.2_Missense_Mutation_p.Y166C|PON2_ENST00000536183.1_Missense_Mutation_p.Y199C			Q15165	PON2_HUMAN	paraoxonase 2	178					aromatic compound catabolic process (GO:0019439)|response to oxidative stress (GO:0006979)	extracellular region (GO:0005576)|lysosome (GO:0005764)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	arylesterase activity (GO:0004064)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)|prostate(1)	9	all_cancers(62;9.35e-11)|all_epithelial(64;3.37e-09)		STAD - Stomach adenocarcinoma(171;0.0151)			ATTTGTGGCATAGAAATGTGC	0.368																																					GBM(42;803 823 13649 23368 31463)	ENST00000536183.1																			0				breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)|prostate(1)	9						c.(595-597)tAt>tGt		paraoxonase 2							97	92	94					7																	95039375		2203	4300	6503	SO:0001583	missense	5445				aromatic compound catabolic process	extracellular region|plasma membrane	arylesterase activity|identical protein binding|metal ion binding	g.chr7:95039375T>C	M63012, AF001601	CCDS5640.1, CCDS47644.1	7q21.3	2014-03-14			ENSG00000105854	ENSG00000105854	3.1.1.2	"Paraoxonases"	9205	protein-coding gene	gene with protein product	"paraoxonase nirs", "arylesterase 2"	602447				8661009, 9714608	Standard	XM_005250453		Approved		uc003unv.3	Q15165	OTTHUMG00000153948	ENST00000222572.3:c.533A>G	7.37:g.95039375T>C	ENSP00000222572:p.Tyr178Cys					PON2_ENST00000483292.1_5'UTR|PON2_ENST00000433091.2_Missense_Mutation_p.Y166C|PON2_ENST00000222572.3_Missense_Mutation_p.Y178C	p.Y199C	NM_000305.2	NP_000296.2	Q15165	PON2_HUMAN	STAD - Stomach adenocarcinoma(171;0.0151)		6	779	-	all_cancers(62;9.35e-11)|all_epithelial(64;3.37e-09)		178					A4D1H7|B2RCP9|B4DJD5|O15114|O15115|O75856|Q5FBX7|Q86YL0	Missense_Mutation	SNP	ENST00000222572.3	37	c.596A>G	CCDS5640.1	.	.	.	.	.	.	.	.	.	.	T	18.97	3.735365	0.69189	.	.	ENSG00000105854	ENST00000536183;ENST00000355659;ENST00000433091;ENST00000222572	T;T;T	0.58506	0.33;0.33;0.33	4.97	4.97	0.65823	Six-bladed beta-propeller, TolB-like (1);	0.056140	0.64402	D	0.000001	T	0.80706	0.4674	M	0.91354	3.2	0.58432	D	0.999997	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.85512	0.1198	10	0.87932	D	0	-3.641	15.1215	0.72447	0.0:0.0:0.0:1.0	.	178;178	A4D1H7;Q15165	.;PON2_HUMAN	C	199;176;166;178	ENSP00000440282:Y199C;ENSP00000404622:Y166C;ENSP00000222572:Y178C	ENSP00000222572:Y178C	Y	-	2	0	PON2	94877311	1.000000	0.71417	1.000000	0.80357	0.931000	0.56810	5.547000	0.67249	2.222000	0.72286	0.528000	0.53228	TAT		0.368	PON2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333142.1	NM_000305		16	21	0	0	0	1	0	16	21					C	95039375	T	C	95039375	3	2	377	1	0	0	0	0	1	0	0	0	12249	1406	49	4	547	4	PON2	7	95039375	Missense_Mutation	SNP	T	TCGA-V1-A8WS-01A-11D-A377-08	6074476	95039375	64099288	12	18589											
C9orf93	203238	broad.mit.edu	37	chr9	15678826	15678826	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aggaacagaagaaagtaattAtagacctttcaaagagactc	19	8	8	6	0	1	4	1	0	0	4	2	6	1	5	1	1	1	1	1	1	7	4			TCGA-V1-A8WS-01A-11D-A377-08	TCGA-V1-A8WS-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8340e524-5498-4243-b80f-416915f3604c	ba0467ad-64f1-43df-81e1-529e66e6e6fe	g.chr9:15678826A>G	ENST00000380701.3	+	10	1475	c.1147A>G	c.(1147-1149)Ata>Gta	p.I383V	CCDC171_ENST00000297641.3_Missense_Mutation_p.I383V	NM_173550.2	NP_775821.2	Q6TFL3	CC171_HUMAN	coiled-coil domain containing 171	383																	GAAAGTAATTATAGACCTTTC	0.313																																						ENST00000380701.3																			0											c.(1147-1149)Ata>Gta		coiled-coil domain containing 171							47	49	48					9																	15678826		2202	4292	6494	SO:0001583	missense	203238							g.chr9:15678826A>G	AY422473	CCDS6481.1	9p22.2	2012-03-26	2012-03-26	2012-03-26	ENSG00000164989	ENSG00000164989			29828	protein-coding gene	gene with protein product	"myosin tail domain containing protein"		"chromosome 9 open reading frame 93"	C9orf93		14702039	Standard	NM_173550		Approved	FLJ39267, FLJ46740, Em:AL513423.1, bA778P13.1, bA536D16.1	uc003zmd.3	Q6TFL3	OTTHUMG00000019584	ENST00000380701.3:c.1147A>G	9.37:g.15678826A>G	ENSP00000370077:p.Ile383Val					CCDC171_ENST00000297641.3_Missense_Mutation_p.I383V	p.I383V	NM_173550.2	NP_775821.2	Q6TFL3	CI093_HUMAN			10	1475	+			383					B7ZM22|Q5SU58|Q6P1W1|Q6ZR13|Q8N1Z4|Q8N8L3|Q8TBR2	Missense_Mutation	SNP	ENST00000380701.3	37	c.1147A>G	CCDS6481.1	.	.	.	.	.	.	.	.	.	.	A	6.884	0.532588	0.13127	.	.	ENSG00000164989	ENST00000297641;ENST00000380701	T;T	0.13778	2.56;2.56	5.06	3.9	0.45041	.	0.896729	0.09937	N	0.736491	T	0.09468	0.0233	N	0.14661	0.345	0.80722	D	1	B;B;B	0.12630	0.006;0.006;0.003	B;B;B	0.16289	0.015;0.009;0.01	T	0.13899	-1.0492	10	0.29301	T	0.29	-0.4233	10.9674	0.47421	0.8431:0.1568:0.0:0.0	.	383;383;383	B7ZM22;Q6TFL3-3;Q6TFL3	.;.;CI093_HUMAN	V	383	ENSP00000297641:I383V;ENSP00000370077:I383V	ENSP00000297641:I383V	I	+	1	0	C9orf93	15668826	1.000000	0.71417	1.000000	0.80357	0.894000	0.52154	2.602000	0.46257	0.847000	0.35167	0.454000	0.30748	ATA		0.313	CCDC171-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051768.4	NM_173550		6	37	0	0	0	1	0	6	37					G	15678826	A	G	15678826	3	3	377	1	0	0	0	0	1	0	0	0	2506	449	16	4	1181	4	C9orf93	9	15678826	Missense_Mutation	SNP	A	TCGA-V1-A8WS-01A-11D-A377-08		15678826	125534605	13	18590											
RASEF	158158	broad.mit.edu	37	chr9	85615158	85615158	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aactagacttccccactgcaGcgtccccagcaagtacaatc	12	7	6	16	1	0	1	0	0	0	1	3	1	2	1	4	0	5	3	4	0	5	3			TCGA-V1-A8WS-01A-11D-A377-08	TCGA-V1-A8WS-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8340e524-5498-4243-b80f-416915f3604c	ba0467ad-64f1-43df-81e1-529e66e6e6fe	g.chr9:85615158G>A	ENST00000376447.3	-	12	1909	c.1649C>T	c.(1648-1650)gCt>gTt	p.A550V		NM_152573.2	NP_689786.2	Q8IZ41	RASEF_HUMAN	RAS and EF-hand domain containing	550					protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|GTP binding (GO:0005525)			NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(4)|liver(1)|lung(15)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	33						CCCCACTGCAGCGTCCCCAGC	0.453																																						ENST00000376447.3																			0				NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(4)|liver(1)|lung(15)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	33						c.(1648-1650)gCt>gTt		RAS and EF-hand domain containing							90	89	90					9																	85615158		2203	4300	6503	SO:0001583	missense	158158				protein transport|small GTPase mediated signal transduction	perinuclear region of cytoplasm	calcium ion binding|GTP binding	g.chr9:85615158G>A	AK056176	CCDS6662.1	9q21.33	2014-05-09	2004-06-11	2004-06-16	ENSG00000165105	ENSG00000165105		"EF-hand domain containing", "RAB, member RAS oncogene"	26464	protein-coding gene	gene with protein product		611344	"RAB45, member RAS oncogene family"	RAB45		17448446	Standard	NM_152573		Approved	FLJ31614	uc004amo.2	Q8IZ41	OTTHUMG00000020100	ENST00000376447.3:c.1649C>T	9.37:g.85615158G>A	ENSP00000365630:p.Ala550Val						p.A550V	NM_152573.2	NP_689786.2	Q8IZ41	RASEF_HUMAN			12	1909	-			550					A6NC29|Q96N04	Missense_Mutation	SNP	ENST00000376447.3	37	c.1649C>T	CCDS6662.1	.	.	.	.	.	.	.	.	.	.	G	27.7	4.857170	0.91433	.	.	ENSG00000165105	ENST00000376447	T	0.77229	-1.08	6.04	6.04	0.98038	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.84188	0.5417	L	0.33189	0.99	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.84828	0.0800	10	0.87932	D	0	.	20.2052	0.98274	0.0:0.0:1.0:0.0	.	550	Q8IZ41	RASEF_HUMAN	V	550	ENSP00000365630:A550V	ENSP00000365630:A550V	A	-	2	0	RASEF	84804978	1.000000	0.71417	0.810000	0.32431	0.529000	0.34654	6.334000	0.72944	2.873000	0.98535	0.563000	0.77884	GCT		0.453	RASEF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052825.1	NM_152573		9	62	0	0	0	1	0	9	62					A	85615158	G	A	85615158	3	1	377	1	0	0	0	0	1	0	0	0	13068	971	34	3	597	3	RASEF	9	85615158	Missense_Mutation	SNP	G	TCGA-V1-A8WS-01A-11D-A377-08	69936332	85615158	55598273	14	18591											
RALGPS1	9649	broad.mit.edu	37	chr9	129977092	129977092	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tactgtggcacaagcatttgGatgatgcatgtaaaagcaac	14	10	10	7	0	0	1	0	1	0	0	0	2	0	2	0	2	5	5	0	2	5	3			TCGA-V1-A8WS-01A-11D-A377-08	TCGA-V1-A8WS-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8340e524-5498-4243-b80f-416915f3604c	ba0467ad-64f1-43df-81e1-529e66e6e6fe	g.chr9:129977092G>T	ENST00000259351.5	+	18	1882	c.1615G>T	c.(1615-1617)Gat>Tat	p.D539Y	RALGPS1_ENST00000373434.1_Missense_Mutation_p.D489Y|RP13-225O21.2_ENST00000453199.1_RNA|RALGPS1_ENST00000424082.2_Missense_Mutation_p.D497Y	NM_014636.2	NP_055451.1	Q5JS13	RGPS1_HUMAN	Ral GEF with PH domain and SH3 binding motif 1	539	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.|Required for stimulation of nucleotide exchange by RALA.				intracellular signal transduction (GO:0035556)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Ral GTPase activity (GO:0032852)|regulation of Ral protein signal transduction (GO:0032485)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|Ral guanyl-nucleotide exchange factor activity (GO:0008321)			kidney(2)|large_intestine(6)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	19						CAAGCATTTGGATGATGCATG	0.438											OREG0019504	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000259351.5																			0				kidney(2)|large_intestine(6)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	19						c.(1615-1617)Gat>Tat		Ral GEF with PH domain and SH3 binding motif 1							172	154	160					9																	129977092		2203	4300	6503	SO:0001583	missense	9649				small GTPase mediated signal transduction	cytoplasm|plasma membrane	guanyl-nucleotide exchange factor activity	g.chr9:129977092G>T	AB002349	CCDS35143.1, CCDS55344.1, CCDS55345.1, CCDS55346.1	9q33.3	2013-01-10			ENSG00000136828	ENSG00000136828		"Pleckstrin homology (PH) domain containing"	16851	protein-coding gene	gene with protein product		614444				9205841, 10747847	Standard	NM_001190728		Approved	RALGPS1A, RALGEF2, KIAA0351	uc004bqo.2	Q5JS13	OTTHUMG00000020696	ENST00000259351.5:c.1615G>T	9.37:g.129977092G>T	ENSP00000259351:p.Asp539Tyr		OREG0019504	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1576	RP13-225O21.2_ENST00000453199.1_RNA|RALGPS1_ENST00000424082.2_Missense_Mutation_p.D497Y|RALGPS1_ENST00000373434.1_Missense_Mutation_p.D489Y	p.D539Y	NM_014636.2	NP_055451.1	Q5JS13	RGPS1_HUMAN			18	1882	+			539			PH.|Required for stimulation of nucleotide exchange by RALA.		B4DR86|E9PBQ5|O15059|Q5JT60|Q5JT65|Q5JUG5|Q8N4S6|Q8N5H4|Q8WUV7|Q9NZ16	Missense_Mutation	SNP	ENST00000259351.5	37	c.1615G>T	CCDS35143.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	28.2|28.2	4.900508|4.900508	0.92035|0.92035	.|.	.|.	ENSG00000136828|ENSG00000136828	ENST00000259351;ENST00000424082;ENST00000373434|ENST00000438723	T;T;T|.	0.75477|.	-0.94;-0.94;-0.94|.	5.7|5.7	5.7|5.7	0.88788|0.88788	Pleckstrin homology-type (1);Pleckstrin homology domain (3);|.	0.096907|.	0.64402|.	D|.	0.000002|.	T|T	0.56790|0.56790	0.2009|0.2009	N|N	0.22421|0.22421	0.69|0.69	0.51482|0.51482	D|D	0.999921|0.999921	D;D;D|.	0.71674|.	0.998;0.997;0.996|.	P;P;P|.	0.60117|.	0.869;0.853;0.845|.	T|T	0.49844|0.49844	-0.8896|-0.8896	10|5	0.66056|.	D|.	0.02|.	.|.	19.8471|19.8471	0.96713|0.96713	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	497;489;539|.	E9PBQ5;Q5JS13-2;Q5JS13|.	.;.;RGPS1_HUMAN|.	Y|C	539;497;489|134	ENSP00000259351:D539Y;ENSP00000415630:D497Y;ENSP00000362533:D489Y|.	ENSP00000259351:D539Y|.	D|W	+|+	1|3	0|0	RALGPS1|RALGPS1	129016913|129016913	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	7.119000|7.119000	0.77145|0.77145	2.688000|2.688000	0.91661|0.91661	0.655000|0.655000	0.94253|0.94253	GAT|TGG		0.438	RALGPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054133.1	NM_014636		23	54	1	0	3.73808e-20	1	4.2878e-20	23	54					T	129977092	G	T	129977092	3	4	377	1	0	0	0	0	1	0	0	0	13017	1174	41	5	1681	5	RALGPS1	9	129977092	Missense_Mutation	SNP	G	TCGA-V1-A8WS-01A-11D-A377-08	44361934	129977092	11236339	15	18592											
CHRNA10	57053	broad.mit.edu	37	chr11	3687407	3687407	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agaagatggccaggaagaagCggtccatcacacgggccagg	13	3	15	10	2	1	3	1	0	0	3	2	4	2	4	3	5	1	0	3	5	3	0			TCGA-V1-A8WS-01A-11D-A377-08	TCGA-V1-A8WS-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8340e524-5498-4243-b80f-416915f3604c	ba0467ad-64f1-43df-81e1-529e66e6e6fe	g.chr11:3687407C>T	ENST00000250699.2	-	5	1354	c.1283G>A	c.(1282-1284)cGc>cAc	p.R428H	Y_RNA_ENST00000364409.1_RNA|CHRNA10_ENST00000534359.1_3'UTR|Y_RNA_ENST00000363331.1_RNA|CHRNA10_ENST00000493827.2_5'Flank	NM_020402.2	NP_065135.2	Q9GZZ6	ACH10_HUMAN	cholinergic receptor, nicotinic, alpha 10 (neuronal)	428					detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|inner ear morphogenesis (GO:0042472)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of cell proliferation (GO:0042127)|synaptic transmission, cholinergic (GO:0007271)	axon (GO:0030424)|cell junction (GO:0030054)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|perikaryon (GO:0043204)|postsynaptic membrane (GO:0045211)	acetylcholine-activated cation-selective channel activity (GO:0004889)|calcium channel activity (GO:0005262)|receptor binding (GO:0005102)			breast(1)|endometrium(2)|lung(3)|ovary(1)	7		Medulloblastoma(188;0.0075)|Breast(177;0.0164)|all_neural(188;0.0577)		BRCA - Breast invasive adenocarcinoma(625;0.0344)|LUSC - Lung squamous cell carcinoma(625;0.192)	Chloroprocaine(DB01161)|Galantamine(DB00674)|Methadone(DB00333)|Nicotine(DB00184)|Pentolinium(DB01090)|Succinylcholine(DB00202)|Trimethaphan(DB01116)	CAGGAAGAAGCGGTCCATCAC	0.622																																					Melanoma(153;17 1869 2949 7120 36888)	ENST00000250699.2																			0				breast(1)|endometrium(2)|lung(3)|ovary(1)	7						c.(1282-1284)cGc>cAc		cholinergic receptor, nicotinic, alpha 10 (neuronal)	Chloroprocaine(DB01161)|Methadone(DB00333)|Nicotine(DB00184)|Pentolinium(DB01090)|Procaine(DB00721)|Trimethaphan(DB01116)						62	62	62					11																	3687407		2201	4298	6499	SO:0001583	missense	57053				elevation of cytosolic calcium ion concentration|regulation of cell proliferation|synaptic transmission, cholinergic	cell junction|postsynaptic membrane	calcium channel activity|receptor activity|receptor binding	g.chr11:3687407C>T	AF199235	CCDS7745.1	11p15.5	2012-02-11	2012-02-07		ENSG00000129749	ENSG00000129749		"Cholinergic receptors", "Ligand-gated ion channels / Acetylcholine receptors, nicotinic"	13800	protein-coding gene	gene with protein product	"acetylcholine receptor, nicotinic, alpha 10 (neuronal)"	606372	"cholinergic receptor, nicotinic, alpha polypeptide 10"				Standard	NM_020402		Approved		uc001lyf.3	Q9GZZ6	OTTHUMG00000011844	ENST00000250699.2:c.1283G>A	11.37:g.3687407C>T	ENSP00000250699:p.Arg428His					CHRNA10_ENST00000534359.1_3'UTR	p.R428H	NM_020402.2	NP_065135.2	Q9GZZ6	ACH10_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.0344)|LUSC - Lung squamous cell carcinoma(625;0.192)	5	1354	-		Medulloblastoma(188;0.0075)|Breast(177;0.0164)|all_neural(188;0.0577)	428						Missense_Mutation	SNP	ENST00000250699.2	37	c.1283G>A	CCDS7745.1	.	.	.	.	.	.	.	.	.	.	C	32	5.149241	0.94645	.	.	ENSG00000129749	ENST00000250699	T	0.76578	-1.03	5.76	5.76	0.90799	Neurotransmitter-gated ion-channel transmembrane domain (1);	0.000000	0.64402	D	0.000014	D	0.89332	0.6685	M	0.82716	2.605	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.89968	0.4091	10	0.66056	D	0.02	.	18.5213	0.90954	0.0:1.0:0.0:0.0	.	428	Q9GZZ6	ACH10_HUMAN	H	428	ENSP00000250699:R428H	ENSP00000250699:R428H	R	-	2	0	CHRNA10	3643983	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.818000	0.86416	2.715000	0.92844	0.561000	0.74099	CGC		0.622	CHRNA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032763.2			6	37	0	0	0	1	0	6	37					T	3687407	C	T	3687407	3	4	377	1	0	0	0	0	1	0	0	0	3382	768	27	1	73	1	CHRNA10	11	3687407	Missense_Mutation	SNP	C	TCGA-V1-A8WS-01A-11D-A377-08		3687407	131319109	16	18593											
GRIA4	2893	broad.mit.edu	37	chr11	105623908	105623908	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagtttgctggatcactacgAatggaactgttttgtcttcc	8	15	10	8	1	2	0	1	0	1	0	3	4	3	2	1	2	3	3	1	2	3	5			TCGA-V1-A8WS-01A-11D-A377-08	TCGA-V1-A8WS-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8340e524-5498-4243-b80f-416915f3604c	ba0467ad-64f1-43df-81e1-529e66e6e6fe	g.chr11:105623908A>G	ENST00000530497.1	+	3	449	c.449A>G	c.(448-450)gAa>gGa	p.E150G	GRIA4_ENST00000525187.1_Missense_Mutation_p.E150G|GRIA4_ENST00000393127.2_Missense_Mutation_p.E150G|GRIA4_ENST00000428631.2_Missense_Mutation_p.E150G|GRIA4_ENST00000282499.5_Missense_Mutation_p.E150G|GRIA4_ENST00000393125.2_Missense_Mutation_p.E150G			P48058	GRIA4_HUMAN	glutamate receptor, ionotropic, AMPA 4	150					glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|vesicle (GO:0031982)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)|ionotropic glutamate receptor activity (GO:0004970)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(24)|liver(2)|lung(25)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	82		Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323)		BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899)		GATCACTACGAATGGAACTGT	0.438																																						ENST00000393127.2																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(24)|liver(2)|lung(25)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	82						c.(448-450)gAa>gGa		glutamate receptor, ionotropic, AMPA 4	L-Glutamic Acid(DB00142)						154	133	140					11																	105623908		2202	4299	6501	SO:0001583	missense	0				glutamate signaling pathway|synaptic transmission	cell junction|endocytic vesicle membrane|integral to membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity	g.chr11:105623908A>G	U16129	CCDS8333.1, CCDS41706.1, CCDS41707.1	11q22	2012-08-29	2012-02-03		ENSG00000152578	ENSG00000152578		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4574	protein-coding gene	gene with protein product		138246	"glutamate receptor, ionotrophic, AMPA 4"	GLUR4			Standard	NM_001077244		Approved	GluA4, GLURD	uc001pix.2	P48058	OTTHUMG00000166236	ENST00000530497.1:c.449A>G	11.37:g.105623908A>G	ENSP00000435775:p.Glu150Gly					GRIA4_ENST00000393125.2_Missense_Mutation_p.E150G|GRIA4_ENST00000525187.1_Missense_Mutation_p.E150G|GRIA4_ENST00000530497.1_Missense_Mutation_p.E150G|GRIA4_ENST00000282499.5_Missense_Mutation_p.E150G|GRIA4_ENST00000428631.2_Missense_Mutation_p.E150G	p.E150G	NM_001077243.2	NP_001070711.2	P48058	GRIA4_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899)	4	895	+		Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323)	150					Q86XE8	Missense_Mutation	SNP	ENST00000530497.1	37	c.449A>G	CCDS8333.1	.	.	.	.	.	.	.	.	.	.	A	5.755	0.323737	0.10900	.	.	ENSG00000152578	ENST00000393125;ENST00000282499;ENST00000393127;ENST00000428631;ENST00000531011;ENST00000530497;ENST00000525187	T;T;T;T;T;T;T	0.79653	-1.29;-1.29;-1.29;-1.29;-1.29;-1.29;-1.29	5.51	5.51	0.81932	Extracellular ligand-binding receptor (1);	0.085998	0.49305	D	0.000157	T	0.52322	0.1727	N	0.00926	-1.1	0.41109	D	0.985724	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.01281	0.0;0.0;0.0;0.0	T	0.53968	-0.8363	10	0.22706	T	0.39	.	10.047	0.42192	0.9252:0.0:0.0748:0.0	.	150;150;180;150	P48058;G3V164;Q59GL7;Q86XE8	GRIA4_HUMAN;.;.;.	G	150	ENSP00000376833:E150G;ENSP00000282499:E150G;ENSP00000376835:E150G;ENSP00000415551:E150G;ENSP00000432443:E150G;ENSP00000435775:E150G;ENSP00000432180:E150G	ENSP00000282499:E150G	E	+	2	0	GRIA4	105129118	1.000000	0.71417	0.998000	0.56505	0.885000	0.51271	7.574000	0.82434	2.103000	0.63969	0.533000	0.62120	GAA		0.438	GRIA4-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000388593.1			9	76	0	0	0	1	0	9	76					G	105623908	A	G	105623908	3	3	377	1	0	0	0	0	1	0	0	0	6770	246	9	4	459	4	GRIA4	11	105623908	Missense_Mutation	SNP	A	TCGA-V1-A8WS-01A-11D-A377-08	101936501	105623908	29382608	17	18594											
SBNO1	55206	broad.mit.edu	37	chr12	123780522	123780522	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atagctgtttctgttggaccGcaagctgttgagactggtct	7	14	12	8	1	2	1	0	1	2	1	2	3	2	2	1	2	2	6	1	2	2	4			TCGA-V1-A8WS-01A-11D-A377-08	TCGA-V1-A8WS-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8340e524-5498-4243-b80f-416915f3604c	ba0467ad-64f1-43df-81e1-529e66e6e6fe	g.chr12:123780522G>A	ENST00000602398.1	-	32	4242	c.4115C>T	c.(4114-4116)gCg>gTg	p.A1372V	SBNO1_ENST00000420886.2_Missense_Mutation_p.A1372V|SBNO1_ENST00000267176.4_Missense_Mutation_p.A1371V|SBNO1_ENST00000602750.1_Missense_Mutation_p.A1371V			A3KN83	SBNO1_HUMAN	strawberry notch homolog 1 (Drosophila)	1372					regulation of transcription, DNA-templated (GO:0006355)			p.A1371V(2)		NS(2)|breast(6)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(11)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(2)	62	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197)		CTGTTGGACCGCAAGCTGTTG	0.433																																						ENST00000420886.2																			2	Substitution - Missense(2)	p.A1371V(2)	lung(1)|prostate(1)	NS(2)|breast(6)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(11)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(2)	62						c.(4114-4116)gCg>gTg		strawberry notch homolog 1 (Drosophila)							340	303	316					12																	123780522		2203	4300	6503	SO:0001583	missense	55206						ATP binding|DNA binding|hydrolase activity	g.chr12:123780522G>A	AK001563	CCDS9246.1, CCDS53844.1	12q24.31	2006-10-06	2006-10-06			ENSG00000139697			22973	protein-coding gene	gene with protein product		614274	"sno, strawberry notch homolog 1 (Drosophila)"				Standard	NM_018183		Approved	MOP3, FLJ10701, FLJ10833, Sno	uc010tap.2	A3KN83		ENST00000602398.1:c.4115C>T	12.37:g.123780522G>A	ENSP00000473665:p.Ala1372Val					SBNO1_ENST00000602398.1_Missense_Mutation_p.A1372V|SBNO1_ENST00000267176.4_Missense_Mutation_p.A1371V|SBNO1_ENST00000602750.1_Missense_Mutation_p.A1371V	p.A1372V	NM_001167856.1	NP_001161328.1	A3KN83	SBNO1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197)	31	4114	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		1372					Q05C06|Q3ZTS3|Q9H3T8|Q9NVB2	Missense_Mutation	SNP	ENST00000602398.1	37	c.4115C>T	CCDS53844.1	.	.	.	.	.	.	.	.	.	.	G	25.3	4.622923	0.87460	.	.	ENSG00000139697	ENST00000420886;ENST00000267176	T;T	0.32515	1.45;1.45	6.04	6.04	0.98038	.	0.000000	0.85682	D	0.000000	T	0.45236	0.1332	L	0.27053	0.805	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.73708	0.959;0.981	T	0.12785	-1.0534	10	0.33940	T	0.23	-19.465	20.5792	0.99380	0.0:0.0:1.0:0.0	.	1372;1371	A3KN83;A3KN83-2	SBNO1_HUMAN;.	V	1372;1371	ENSP00000387361:A1372V;ENSP00000267176:A1371V	ENSP00000267176:A1371V	A	-	2	0	SBNO1	122346475	1.000000	0.71417	0.790000	0.31976	0.976000	0.68499	9.431000	0.97494	2.873000	0.98535	0.561000	0.74099	GCG		0.433	SBNO1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000467684.1	NM_018183		4	186	0	0	0	1	0	4	186					A	123780522	G	A	123780522	3	1	377	1	0	0	0	0	1	0	0	0	13862	1087	38	1	70	1	SBNO1	12	123780522	Missense_Mutation	SNP	G	TCGA-V1-A8WS-01A-11D-A377-08		123780522	10071373	18	18595											
UBC	7316	broad.mit.edu	37	chr12	125397652	125397652	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atcccacctctgagacggagTaccaggtgcaaggtggactc	10	7	12	12	1	1	1	0	1	1	1	3	4	2	3	3	4	2	2	3	4	2	1	rs533073686	byFrequency	TCGA-V1-A8WS-01A-11D-A377-08	TCGA-V1-A8WS-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8340e524-5498-4243-b80f-416915f3604c	ba0467ad-64f1-43df-81e1-529e66e6e6fe	g.chr12:125397652T>C	ENST00000536769.1	-	1	2242	c.666A>G	c.(664-666)gtA>gtG	p.V222V	UBC_ENST00000546120.1_Silent_p.V146V|UBC_ENST00000339647.5_Silent_p.V222V|UBC_ENST00000538617.1_Intron|UBC_ENST00000536661.1_5'Flank|MIR5188_ENST00000583467.1_RNA			P0CG48	UBC_HUMAN	ubiquitin C	222	Ubiquitin-like 3. {ECO:0000255|PROSITE- ProRule:PRU00214}.				activation of MAPK activity (GO:0000187)|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|carbohydrate metabolic process (GO:0005975)|cellular response to hypoxia (GO:0071456)|cytokine-mediated signaling pathway (GO:0019221)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|endosomal transport (GO:0016197)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|intracellular transport of virus (GO:0075733)|ion transmembrane transport (GO:0034220)|JNK cascade (GO:0007254)|membrane organization (GO:0061024)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of type I interferon production (GO:0032480)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of apoptotic process (GO:0043065)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of type I interferon production (GO:0032479)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|stress-activated MAPK cascade (GO:0051403)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|transmembrane transport (GO:0055085)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral protein processing (GO:0019082)|virion assembly (GO:0019068)	cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|protease binding (GO:0002020)			breast(3)|endometrium(4)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308)		TGAGACGGAGTACCAGGTGCA	0.512													-|||	5	0.000998403	0	0	5008	,	,		27834	0.004		0	False		,,,				2504	0.001					ENST00000536769.1																			0				breast(3)|endometrium(4)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(664-666)gtA>gtG		ubiquitin C							228	202	211					12																	125397652		2203	4299	6502	SO:0001819	synonymous_variant	7316				activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|viral reproduction	cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane	protein binding	g.chr12:125397652T>C		CCDS9260.1	12q24.3	2008-09-08			ENSG00000150991	ENSG00000150991			12468	protein-coding gene	gene with protein product	"polyubiquitin-C"	191340				1315303, 11872750	Standard	NM_021009		Approved		uc001ugs.4	P0CG48		ENST00000536769.1:c.666A>G	12.37:g.125397652T>C						UBC_ENST00000339647.5_Silent_p.V222V|UBC_ENST00000538617.1_Intron|UBC_ENST00000546120.1_Silent_p.V146V	p.V222V			P0CG48	UBC_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308)	1	2242	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		222			Ubiquitin-like 3.		P02248|P02249|P02250|P62988|Q29120|Q6LBL4|Q6LDU5|Q8WYN8|Q91887|Q91888|Q9BWD6|Q9BX98|Q9UEF2|Q9UEG1|Q9UEK8|Q9UPK7	Silent	SNP	ENST00000536769.1	37	c.666A>G	CCDS9260.1																																																																																				0.512	UBC-007	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400177.1	NM_021009		4	154	0	0	0	1	0	4	154					C	125397652	T	C	125397652	2	2	377	1	0	0	0	0	0	0	0	1	16839	1625	57	4		4	UBC	12	125397652	Silent	SNP	T	TCGA-V1-A8WS-01A-11D-A377-08	1617130	125397652	8454243	19	18596											
ZNF770	54989	broad.mit.edu	37	chr15	35273990	35273990	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tatagttaacattattacctGaatgattagaaagattgttg	15	16	7	3	0	0	4	0	2	0	2	0	4	0	4	1	0	2	2	1	0	8	8			TCGA-V1-A8WS-01A-11D-A377-08	TCGA-V1-A8WS-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8340e524-5498-4243-b80f-416915f3604c	ba0467ad-64f1-43df-81e1-529e66e6e6fe	g.chr15:35273990G>A	ENST00000356321.4	-	3	1990	c.1646C>T	c.(1645-1647)tCa>tTa	p.S549L		NM_014106.3	NP_054825.2	Q6IQ21	ZN770_HUMAN	zinc finger protein 770	549					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)	29		Lung NSC(122;4.59e-10)|all_lung(180;8.78e-09)		all cancers(64;1.97e-18)|GBM - Glioblastoma multiforme(113;2.11e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0643)		ATTATTACCTGAATGATTAGA	0.368																																						ENST00000356321.4																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)	29						c.(1645-1647)tCa>tTa		zinc finger protein 770							111	114	113					15																	35273990		2201	4298	6499	SO:0001583	missense	54989				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr15:35273990G>A	BC071603	CCDS10042.1	15q14	2013-01-08			ENSG00000198146	ENSG00000198146		"Zinc fingers, C2H2-type"	26061	protein-coding gene	gene with protein product							Standard	NM_014106		Approved	FLJ20582, PRO1914	uc001ziw.3	Q6IQ21	OTTHUMG00000129689	ENST00000356321.4:c.1646C>T	15.37:g.35273990G>A	ENSP00000348673:p.Ser549Leu						p.S549L	NM_014106.3	NP_054825.2	Q6IQ21	ZN770_HUMAN		all cancers(64;1.97e-18)|GBM - Glioblastoma multiforme(113;2.11e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0643)	3	1990	-		Lung NSC(122;4.59e-10)|all_lung(180;8.78e-09)	549					Q6ZMZ6|Q9NWV2	Missense_Mutation	SNP	ENST00000356321.4	37	c.1646C>T	CCDS10042.1	.	.	.	.	.	.	.	.	.	.	G	0.078	-1.188866	0.01607	.	.	ENSG00000198146	ENST00000356321	T	0.08546	3.08	5.1	1.87	0.25490	.	0.484707	0.19415	U	0.114823	T	0.04092	0.0114	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.37454	-0.9705	10	0.48119	T	0.1	-0.2346	7.251	0.26150	0.0877:0.0:0.3206:0.5917	.	549	Q6IQ21	ZN770_HUMAN	L	549	ENSP00000348673:S549L	ENSP00000348673:S549L	S	-	2	0	ZNF770	33061282	0.147000	0.22687	0.003000	0.11579	0.012000	0.07955	0.287000	0.18920	0.688000	0.31529	0.467000	0.42956	TCA		0.368	ZNF770-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251896.2	NM_014106		8	96	0	0	0	1	0	8	96					A	35273990	G	A	35273990	3	1	377	1	0	0	0	0	1	0	0	0	18140	1294	45	3	433	3	ZNF770	15	35273990	Missense_Mutation	SNP	G	TCGA-V1-A8WS-01A-11D-A377-08		35273990	67257402	20	18597											
ATF7IP2	80063	broad.mit.edu	37	chr16	10575982	10575982	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	accactccccatggcctgtaCtttatctcagtttttagctt	7	16	5	13	0	1	0	1	0	1	0	3	0	2	0	4	1	2	3	4	1	3	7			TCGA-V1-A8WS-01A-11D-A377-08	TCGA-V1-A8WS-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8340e524-5498-4243-b80f-416915f3604c	ba0467ad-64f1-43df-81e1-529e66e6e6fe	g.chr16:10575982C>T	ENST00000396560.2	+	12	2152	c.1925C>T	c.(1924-1926)aCt>aTt	p.T642I	ATF7IP2_ENST00000324570.5_3'UTR|ATF7IP2_ENST00000356427.2_Missense_Mutation_p.T642I|ATF7IP2_ENST00000543967.1_Missense_Mutation_p.T186I|ATF7IP2_ENST00000396559.1_3'UTR	NM_024997.3	NP_079273.2	Q5U623	MCAF2_HUMAN	activating transcription factor 7 interacting protein 2	642	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				large_intestine(3)	3						ATGGCCTGTACTTTATCTCAG	0.358																																						ENST00000396560.2																			0				large_intestine(3)	3						c.(1924-1926)aCt>aTt		activating transcription factor 7 interacting protein 2							99	100	100					16																	10575982		2197	4300	6497	SO:0001583	missense	80063				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chr16:10575982C>T	AK022730	CCDS10540.1, CCDS58422.1	16p13.2	2008-02-05			ENSG00000166669	ENSG00000166669			20397	protein-coding gene	gene with protein product		613645					Standard	NM_001256160		Approved	FLJ12668	uc002czu.3	Q5U623	OTTHUMG00000129749	ENST00000396560.2:c.1925C>T	16.37:g.10575982C>T	ENSP00000379808:p.Thr642Ile					ATF7IP2_ENST00000356427.2_Missense_Mutation_p.T642I|ATF7IP2_ENST00000543967.1_Missense_Mutation_p.T186I|ATF7IP2_ENST00000324570.5_3'UTR|ATF7IP2_ENST00000396559.1_3'UTR	p.T642I	NM_024997.3	NP_079273.2	Q5U623	MCAF2_HUMAN			12	2152	+			642			Fibronectin type-III.		B2RNR2|Q53EZ7|Q658U2|Q6IS97|Q8N9X8|Q9H9L6	Missense_Mutation	SNP	ENST00000396560.2	37	c.1925C>T	CCDS10540.1	.	.	.	.	.	.	.	.	.	.	C	27.6	4.842715	0.91197	.	.	ENSG00000166669	ENST00000543967;ENST00000396560;ENST00000356427	T;T;T	0.32023	1.51;1.47;1.47	5.78	5.78	0.91487	.	0.000000	0.64402	D	0.000003	T	0.57021	0.2025	M	0.72353	2.195	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.58092	-0.7697	10	0.87932	D	0	-12.6118	17.4947	0.87714	0.0:1.0:0.0:0.0	.	642	Q5U623	MCAF2_HUMAN	I	186;642;642	ENSP00000446119:T186I;ENSP00000379808:T642I;ENSP00000348799:T642I	ENSP00000348799:T642I	T	+	2	0	ATF7IP2	10483483	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.191000	0.50981	2.736000	0.93811	0.555000	0.69702	ACT		0.358	ATF7IP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251961.1	NM_024997		49	80	0	0	0	1	0	49	80					T	10575982	C	T	10575982	3	4	377	1	0	0	0	0	1	0	0	0	1088	565	20	3	1963	3	ATF7IP2	16	10575982	Missense_Mutation	SNP	C	TCGA-V1-A8WS-01A-11D-A377-08		10575982	79778771	21	18598											
IRX6	79190	broad.mit.edu	37	chr16	55362691	55362691	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaagaggaggaggaggaggaGgaagctgaagacgaggaggt	15	2	22	2	1	0	3	0	1	0	2	0	12	0	10	0	8	1	1	0	8	3	0			TCGA-V1-A8WS-01A-11D-A377-08	TCGA-V1-A8WS-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8340e524-5498-4243-b80f-416915f3604c	ba0467ad-64f1-43df-81e1-529e66e6e6fe	g.chr16:55362691G>A	ENST00000290552.7	+	5	2133	c.801G>A	c.(799-801)gaG>gaA	p.E267E	RP11-26L20.3_ENST00000558730.2_RNA	NM_024335.2	NP_077311.2	P78412	IRX6_HUMAN	iroquois homeobox 6	267					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			breast(2)|central_nervous_system(5)|endometrium(3)|kidney(2)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	33						aggaggaggaggaagctgaag	0.637																																						ENST00000290552.7																			0				breast(2)|central_nervous_system(5)|endometrium(3)|kidney(2)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	33						c.(799-801)gaG>gaA		iroquois homeobox 6							35	38	37					16																	55362691		2197	4298	6495	SO:0001819	synonymous_variant	79190					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr16:55362691G>A	AF319966	CCDS32449.1	16q12.2	2011-06-20	2007-07-13	2003-01-10		ENSG00000159387		"Homeoboxes / TALE class"	14675	protein-coding gene	gene with protein product		606196	"iroquois homeobox protein 7", "iroquois homeobox protein 6"	IRX7			Standard	NM_024335		Approved	IRX-3	uc002ehy.3	P78412		ENST00000290552.7:c.801G>A	16.37:g.55362691G>A						RP11-26L20.3_ENST00000558730.2_RNA	p.E267E	NM_024335.2	NP_077311.2	P78412	IRX6_HUMAN			5	2133	+			267					B2RN06|Q7Z2K0	Silent	SNP	ENST00000290552.7	37	c.801G>A	CCDS32449.1																																																																																				0.637	IRX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417445.4	NM_024335		3	64	0	0	0	1	0	3	64					A	55362691	G	A	55362691	2	1	377	1	0	0	0	0	0	0	0	1	7848	991	35	3		3	IRX6	16	55362691	Silent	SNP	G	TCGA-V1-A8WS-01A-11D-A377-08	44786709	55362691	34992062	22	18599											
SLC38A7	55238	broad.mit.edu	37	chr16	58713793	58713793	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gatgcctgctgccacgccccCcgcagtgctgaaggctgctg	5	7	13	16	2	0	1	0	1	0	0	0	2	0	1	5	1	5	5	5	1	1	0			TCGA-V1-A8WS-01A-11D-A377-08	TCGA-V1-A8WS-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8340e524-5498-4243-b80f-416915f3604c	ba0467ad-64f1-43df-81e1-529e66e6e6fe	g.chr16:58713793C>T	ENST00000570101.1	-	2	1121	c.238G>A	c.(238-240)Ggg>Agg	p.G80R	SLC38A7_ENST00000564010.1_Intron|SLC38A7_ENST00000566953.1_Intron|SLC38A7_ENST00000219320.4_Missense_Mutation_p.G80R|SLC38A7_ENST00000564100.1_Missense_Mutation_p.G80R|SLC38A7_ENST00000564391.1_Missense_Mutation_p.G80R			Q9NVC3	S38A7_HUMAN	solute carrier family 38, member 7	80					sodium ion transport (GO:0006814)	axon (GO:0030424)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)	L-alanine transmembrane transporter activity (GO:0015180)|L-amino acid transmembrane transporter activity (GO:0015179)|L-asparagine transmembrane transporter activity (GO:0015182)|L-aspartate transmembrane transporter activity (GO:0015183)|L-glutamate transmembrane transporter activity (GO:0005313)|L-glutamine transmembrane transporter activity (GO:0015186)|L-histidine transmembrane transporter activity (GO:0005290)|L-leucine transmembrane transporter activity (GO:0015190)|L-methionine transmembrane transporter activity (GO:0015191)|L-serine transmembrane transporter activity (GO:0015194)			endometrium(1)|large_intestine(2)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	13						GCCACGCCCCCCGCAGTGCTG	0.622																																						ENST00000570101.1																			0				endometrium(1)|large_intestine(2)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	13						c.(238-240)Ggg>Agg		solute carrier family 38, member 7							44	42	43					16																	58713793		2198	4300	6498	SO:0001583	missense	55238				amino acid transport|sodium ion transport	integral to membrane		g.chr16:58713793C>T	BC001961	CCDS10800.1	16q21	2013-05-22			ENSG00000103042	ENSG00000103042		"Solute carriers"	25582	protein-coding gene	gene with protein product		614236					Standard	XM_006721229		Approved	FLJ10815	uc002eod.1	Q9NVC3	OTTHUMG00000133491	ENST00000570101.1:c.238G>A	16.37:g.58713793C>T	ENSP00000454646:p.Gly80Arg					SLC38A7_ENST00000564010.1_Intron|SLC38A7_ENST00000564100.1_Missense_Mutation_p.G80R|SLC38A7_ENST00000219320.4_Missense_Mutation_p.G80R|SLC38A7_ENST00000564391.1_Missense_Mutation_p.G80R|SLC38A7_ENST00000566953.1_Intron	p.G80R			Q9NVC3	S38A7_HUMAN			2	1121	-			80					Q53GJ9|Q9H9I5	Missense_Mutation	SNP	ENST00000570101.1	37	c.238G>A	CCDS10800.1	.	.	.	.	.	.	.	.	.	.	C	19.86	3.905326	0.72868	.	.	ENSG00000103042	ENST00000219320	T	0.52295	0.67	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	T	0.72953	0.3525	M	0.82517	2.595	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.986	T	0.73439	-0.3982	9	.	.	.	.	19.2845	0.94065	0.0:1.0:0.0:0.0	.	80;80	Q9NVC3;Q9NVC3-2	S38A7_HUMAN;.	R	80	ENSP00000219320:G80R	.	G	-	1	0	SLC38A7	57271294	1.000000	0.71417	0.972000	0.41901	0.002000	0.02628	7.332000	0.79203	2.813000	0.96785	0.655000	0.94253	GGG		0.622	SLC38A7-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422206.2	NM_018231		8	10	0	0	0	1	0	8	10					T	58713793	C	T	58713793	3	4	377	1	0	0	0	0	1	0	0	0	14609	623	22	3	1190	3	SLC38A7	16	58713793	Missense_Mutation	SNP	C	TCGA-V1-A8WS-01A-11D-A377-08	3351102	58713793	31640960	23	18600											
MAP3K14	100133991	broad.mit.edu	37	chr17	43345071	43345071	+	RNA	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggtaattggcttgatttggCggtggatgtcttggttcttt	4	19	14	4	1	2	1	0	1	2	0	2	2	2	2	0	6	0	3	0	6	1	7			TCGA-V1-A8WS-01A-11D-A377-08	TCGA-V1-A8WS-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8340e524-5498-4243-b80f-416915f3604c	ba0467ad-64f1-43df-81e1-529e66e6e6fe	g.chr17:43345071C>T	ENST00000585780.1	+	0	2120				MAP3K14-AS1_ENST00000591263.1_RNA|MAP3K14-AS1_ENST00000588504.1_RNA|MAP3K14_ENST00000344686.2_RNA|MAP3K14-AS1_ENST00000588698.1_RNA|MAP3K14-AS1_ENST00000586450.1_RNA|MAP3K14-AS1_ENST00000590100.1_RNA|MAP3K14-AS1_ENST00000588160.1_RNA|MAP3K14-AS1_ENST00000585346.1_RNA|MAP3K14-AS1_ENST00000592422.1_RNA|MAP3K14-AS1_ENST00000585351.1_RNA					MAP3K14 antisense RNA 1																		CTTGATTTGGCGGTGGATGTC	0.572																																						ENST00000344686.2																			0				breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	27								mitogen-activated protein kinase kinase kinase 14							121	129	126					17																	43345071		1937	4142	6079			9020				cellular response to mechanical stimulus|I-kappaB kinase/NF-kappaB cascade|immune response|positive regulation of I-kappaB kinase/NF-kappaB cascade|T cell costimulation	cytosol	ATP binding|MAP kinase kinase kinase activity|NF-kappaB-inducing kinase activity|protein binding	g.chr17:43345071C>T	AK311429, BC031942		17q21.31	2014-06-16			ENSG00000267278	ENSG00000267278		"Long non-coding RNAs"	44359	non-coding RNA	RNA, long non-coding							Standard	NR_024435		Approved		uc002iit.4		OTTHUMG00000180362		17.37:g.43345071C>T						MAP3K14-AS1_ENST00000585351.1_RNA|MAP3K14-AS1_ENST00000586450.1_RNA|MAP3K14-AS1_ENST00000590100.1_RNA|MAP3K14-AS1_ENST00000585780.1_RNA|MAP3K14-AS1_ENST00000588698.1_RNA|MAP3K14-AS1_ENST00000592422.1_RNA				Q99558	M3K14_HUMAN			0	2133	-									RNA	SNP	ENST00000585780.1	37																																																																																						0.572	MAP3K14-AS1-008	KNOWN	basic	antisense	antisense	OTTHUMT00000450941.1	NR_024434		6	99	0	0	0	1	0	6	99					T	43345071	C	T	43345071	1	4	377	0	1	0	0	0	0	0	0	0	9248	755	27	1		1	MAP3K14	17	43345071	RNA	SNP	C	TCGA-V1-A8WS-01A-11D-A377-08		43345071	37850139	24	18601											
BPTF	2186	broad.mit.edu	37	chr17	65916199	65916199	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atgttggtccttatggcattCgatctgaatattgtatcagg	9	16	10	6	1	2	1	1	1	1	0	4	2	3	1	1	3	0	3	1	3	4	6			TCGA-V1-A8WS-01A-11D-A377-08	TCGA-V1-A8WS-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8340e524-5498-4243-b80f-416915f3604c	ba0467ad-64f1-43df-81e1-529e66e6e6fe	g.chr17:65916199C>T	ENST00000321892.4	+	15	5936	c.5875C>T	c.(5875-5877)Cga>Tga	p.R1959*	BPTF_ENST00000424123.3_Nonsense_Mutation_p.R1820*|BPTF_ENST00000335221.5_Nonsense_Mutation_p.R1959*|BPTF_ENST00000306378.6_Nonsense_Mutation_p.R1833*			Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	1959					anterior/posterior pattern specification (GO:0009952)|ATP catabolic process (GO:0006200)|brain development (GO:0007420)|chromatin remodeling (GO:0006338)|embryonic placenta development (GO:0001892)|endoderm development (GO:0007492)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)|NURF complex (GO:0016589)	sequence-specific DNA binding (GO:0043565)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			TTATGGCATTCGATCTGAATA	0.318																																						ENST00000321892.4																			0				NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						c.(5875-5877)Cga>Tga		bromodomain PHD finger transcription factor							135	140	138					17																	65916199		2203	4300	6503	SO:0001587	stop_gained	2186				brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NURF complex	sequence-specific DNA binding|transcription factor binding|zinc ion binding	g.chr17:65916199C>T	AY282495	CCDS11673.1	17q24	2013-01-28	2006-12-01	2006-12-01	ENSG00000171634	ENSG00000171634		"Zinc fingers, PHD-type"	3581	protein-coding gene	gene with protein product		601819	"fetal Alzheimer antigen"	FALZ		8975731, 10662542, 16728976	Standard	NM_182641		Approved	FAC1, NURF301	uc002jgf.3	Q12830	OTTHUMG00000132254	ENST00000321892.4:c.5875C>T	17.37:g.65916199C>T	ENSP00000315454:p.Arg1959*					BPTF_ENST00000306378.6_Nonsense_Mutation_p.R1833*|BPTF_ENST00000424123.3_Nonsense_Mutation_p.R1820*|BPTF_ENST00000335221.5_Nonsense_Mutation_p.R1959*	p.R1959*			Q12830	BPTF_HUMAN	BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)		15	5936	+	all_cancers(12;6e-11)		1959					Q6NX67|Q7Z7D6|Q9UIG2	Nonsense_Mutation	SNP	ENST00000321892.4	37	c.5875C>T		.	.	.	.	.	.	.	.	.	.	C	48	14.125943	0.99780	.	.	ENSG00000171634	ENST00000306378;ENST00000335221;ENST00000321892	.	.	.	5.65	4.64	0.57946	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-9.7048	15.9648	0.79961	0.1354:0.8646:0.0:0.0	.	.	.	.	X	1833;1959;1959	.	ENSP00000307208:R1833X	R	+	1	2	BPTF	63346661	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	4.830000	0.62745	2.667000	0.90743	0.655000	0.94253	CGA		0.318	BPTF-201	KNOWN	basic	protein_coding	protein_coding		NM_182641, NM_004459		5	86	0	0	0	1	0	5	86					T	65916199	C	T	65916199	4	4	377	1	0	0	0	0	0	1	0	0	1495	876	31	2	5933	2	BPTF	17	65916199	Nonsense_Mutation	SNP	C	TCGA-V1-A8WS-01A-11D-A377-08	22571128	65916199	15279011	25	18602											
TMIGD2	126259	broad.mit.edu	37	chr19	4292688	4292688	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaccatagagacggggtggcCgggcctggggctggggcagg	6	4	22	9	2	0	1	0	0	0	1	0	3	0	1	3	9	0	2	3	9	1	1	rs538543729		TCGA-V1-A8WS-01A-11D-A377-08	TCGA-V1-A8WS-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8340e524-5498-4243-b80f-416915f3604c	ba0467ad-64f1-43df-81e1-529e66e6e6fe	g.chr19:4292688C>T	ENST00000301272.2	-	5	802	c.757G>A	c.(757-759)Ggc>Agc	p.G253S	TMIGD2_ENST00000595645.1_Missense_Mutation_p.G249S|TMIGD2_ENST00000600114.1_Missense_Mutation_p.G133S|TMIGD2_ENST00000600349.1_Missense_Mutation_p.G81S	NM_001169126.1|NM_144615.2	NP_001162597.1|NP_653216.2	Q96BF3	TMIG2_HUMAN	transmembrane and immunoglobulin domain containing 2	253	Pro-rich.				positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of cytokine production (GO:0001819)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	coreceptor activity (GO:0015026)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|skin(2)	19				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0339)|STAD - Stomach adenocarcinoma(1328;0.18)		ACGGGGTggccgggcctgggg	0.667													C|||	1	0.000199681	0	0	5008	,	,		10251	0.001		0	False		,,,				2504	0					ENST00000301272.2																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|skin(2)	19						c.(757-759)Ggc>Agc		transmembrane and immunoglobulin domain containing 2							37	46	43					19																	4292688		2202	4295	6497	SO:0001583	missense	126259					integral to membrane		g.chr19:4292688C>T	BC015655	CCDS12126.1, CCDS59334.1	19p13.3	2014-02-12	2006-07-05					"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	28324	protein-coding gene	gene with protein product		614715					Standard	NM_144615		Approved	MGC23244	uc002lzx.2	Q96BF3		ENST00000301272.2:c.757G>A	19.37:g.4292688C>T	ENSP00000301272:p.Gly253Ser					TMIGD2_ENST00000600114.1_Missense_Mutation_p.G133S|TMIGD2_ENST00000595645.1_Missense_Mutation_p.G249S|TMIGD2_ENST00000600349.1_Missense_Mutation_p.G81S	p.G253S	NM_001169126.1|NM_144615.2	NP_001162597.1|NP_653216.2	Q96BF3	TMIG2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0339)|STAD - Stomach adenocarcinoma(1328;0.18)	5	802	-			253			Pro-rich.		Q6UW59	Missense_Mutation	SNP	ENST00000301272.2	37	c.757G>A	CCDS12126.1	.	.	.	.	.	.	.	.	.	.	C	4.067	0.010185	0.07912	.	.	ENSG00000167664	ENST00000301272	T	0.28255	1.62	2.64	-3.81	0.04294	.	.	.	.	.	T	0.10680	0.0261	N	0.08118	0	0.09310	N	1	B;B	0.20780	0.048;0.028	B;B	0.16722	0.016;0.007	T	0.35773	-0.9775	9	0.09843	T	0.71	.	4.6444	0.12565	0.0:0.5059:0.2093:0.2847	.	249;253	Q96BF3-2;Q96BF3	.;TMIG2_HUMAN	S	253	ENSP00000301272:G253S	ENSP00000301272:G253S	G	-	1	0	TMIGD2	4243688	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-0.981000	0.03766	-0.508000	0.06540	-0.377000	0.06932	GGC		0.667	TMIGD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000458088.1	NM_144615		13	55	0	0	0	1	0	13	55					T	4292688	C	T	4292688	3	4	377	1	0	0	0	0	1	0	0	0	16228	652	23	2	95	2	TMIGD2	19	4292688	Missense_Mutation	SNP	C	TCGA-V1-A8WS-01A-11D-A377-08		4292688	54836295	26	18603											
GIPR	2696	broad.mit.edu	37	chr19	46177354	46177354	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccaaaggctcatcttggagcGgttgcaggtcatgtacactg	9	10	12	10	1	3	0	2	0	1	0	3	1	3	1	1	4	3	4	1	4	2	3	rs199991013		TCGA-V1-A8WS-01A-11D-A377-08	TCGA-V1-A8WS-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8340e524-5498-4243-b80f-416915f3604c	ba0467ad-64f1-43df-81e1-529e66e6e6fe	g.chr19:46177354G>A	ENST00000590918.1	+	6	506	c.407G>A	c.(406-408)cGg>cAg	p.R136Q	MIR642A_ENST00000385039.1_RNA|GIPR_ENST00000263281.3_Missense_Mutation_p.R136Q|GIPR_ENST00000304207.8_Missense_Mutation_p.R100Q	NM_000164.2	NP_000155.1	P48546	GIPR_HUMAN	gastric inhibitory polypeptide receptor	136			R -> W (in dbSNP:rs13306402).		activation of adenylate cyclase activity (GO:0007190)|cell surface receptor signaling pathway (GO:0007166)|desensitization of G-protein coupled receptor protein signaling pathway (GO:0002029)|endocrine pancreas development (GO:0031018)|generation of precursor metabolites and energy (GO:0006091)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of insulin secretion (GO:0032024)|response to axon injury (GO:0048678)|response to calcium ion (GO:0051592)|response to fatty acid (GO:0070542)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	gastric inhibitory peptide receptor activity (GO:0016519)|peptide hormone binding (GO:0017046)|transmembrane signaling receptor activity (GO:0004888)			endometrium(1)|kidney(2)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	12		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0056)|GBM - Glioblastoma multiforme(486;0.0832)|Epithelial(262;0.199)		ATCTTGGAGCGGTTGCAGGTC	0.582													G|||	1	0.000199681	8e-04	0	5008	,	,		17580	0		0	False		,,,				2504	0					ENST00000590918.1																			0				endometrium(1)|kidney(2)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	12						c.(406-408)cGg>cAg		gastric inhibitory polypeptide receptor							187	157	167					19																	46177354		2203	4300	6503	SO:0001583	missense	2696				generation of precursor metabolites and energy|response to nutrient	integral to membrane|plasma membrane		g.chr19:46177354G>A		CCDS12671.1	19q13.2-q13.3	2012-08-10				ENSG00000010310		"GPCR / Class B : Glucagon receptors"	4271	protein-coding gene	gene with protein product		137241				7490109	Standard	NM_000164		Approved		uc002pcu.1	P48546		ENST00000590918.1:c.407G>A	19.37:g.46177354G>A	ENSP00000467494:p.Arg136Gln					GIPR_ENST00000304207.8_Missense_Mutation_p.R100Q|GIPR_ENST00000263281.3_Missense_Mutation_p.R136Q	p.R136Q	NM_000164.2	NP_000155.1	P48546	GIPR_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0056)|GBM - Glioblastoma multiforme(486;0.0832)|Epithelial(262;0.199)	6	506	+		Ovarian(192;0.051)|all_neural(266;0.112)	136		R -> W (in dbSNP:rs13306402).			B7WP14|B7ZKQ0|Q14401|Q16400|Q52M04|Q9UPI1	Missense_Mutation	SNP	ENST00000590918.1	37	c.407G>A	CCDS12671.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	13.24	2.176822	0.38413	.	.	ENSG00000010310	ENST00000263281;ENST00000304207	T;T	0.44083	0.93;0.93	4.78	3.71	0.42584	.	0.144148	0.31507	N	0.007536	T	0.24005	0.0581	L	0.31926	0.97	0.31240	N	0.695285	B;P;B	0.35844	0.062;0.524;0.056	B;B;B	0.22601	0.016;0.04;0.024	T	0.16660	-1.0395	10	0.24483	T	0.36	.	9.1557	0.36992	0.1027:0.0:0.8973:0.0	.	100;136;136	B7WP14;P48546;P48546-2	.;GIPR_HUMAN;.	Q	136;100	ENSP00000263281:R136Q;ENSP00000305321:R100Q	ENSP00000263281:R136Q	R	+	2	0	GIPR	50869194	0.998000	0.40836	1.000000	0.80357	0.860000	0.49131	2.472000	0.45136	2.471000	0.83476	0.561000	0.74099	CGG		0.582	GIPR-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000459640.1			7	116	0	0	0	1	0	7	116					A	46177354	G	A	46177354	3	1	377	1	0	0	0	0	1	0	0	0	6395	1116	39	2	425	2	GIPR	19	46177354	Missense_Mutation	SNP	G	TCGA-V1-A8WS-01A-11D-A377-08	41884666	46177354	12951629	27	18604											
ZNF468	90333	broad.mit.edu	37	chr19	53343985	53343985	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	actcattacactattaaggcTtctctccactatgaagccta	12	13	4	12	0	2	1	1	1	1	0	4	1	3	1	2	1	2	1	2	1	6	6			TCGA-V1-A8WS-01A-11D-A377-08	TCGA-V1-A8WS-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8340e524-5498-4243-b80f-416915f3604c	ba0467ad-64f1-43df-81e1-529e66e6e6fe	g.chr19:53343985T>G	ENST00000595646.1	-	4	1682	c.1562A>C	c.(1561-1563)aAg>aCg	p.K521T	ZNF468_ENST00000243639.4_3'UTR|ZNF468_ENST00000390651.4_Missense_Mutation_p.K468T|ZNF28_ENST00000594602.1_Intron|ZNF468_ENST00000396409.4_Missense_Mutation_p.K468T			Q5VIY5	ZN468_HUMAN	zinc finger protein 468	521					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(1)|stomach(3)|urinary_tract(1)	23				GBM - Glioblastoma multiforme(134;0.0358)		CTATTAAGGCTTCTCTCCACT	0.413																																						ENST00000595646.1																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(1)|stomach(3)|urinary_tract(1)	23						c.(1561-1563)aAg>aCg		zinc finger protein 468							169	152	158					19																	53343985		2203	4300	6503	SO:0001583	missense	90333				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53343985T>G	AK023558	CCDS33094.1, CCDS62781.1	19q13.41	2013-01-08				ENSG00000204604		"Zinc fingers, C2H2-type", "-"	33105	protein-coding gene	gene with protein product						16144304	Standard	NM_001277120		Approved		uc002qaf.3	Q5VIY5		ENST00000595646.1:c.1562A>C	19.37:g.53343985T>G	ENSP00000470381:p.Lys521Thr					ZNF468_ENST00000243639.4_3'UTR|ZNF28_ENST00000594602.1_Intron|ZNF468_ENST00000396409.4_Missense_Mutation_p.K468T|ZNF468_ENST00000390651.4_Missense_Mutation_p.K468T	p.K521T			Q5VIY5	ZN468_HUMAN		GBM - Glioblastoma multiforme(134;0.0358)	4	1682	-			521					A8MV20|Q5CZB8|Q5VIY4|Q68DI7	Missense_Mutation	SNP	ENST00000595646.1	37	c.1562A>C	CCDS33094.1	.	.	.	.	.	.	.	.	.	.	-	9.278	1.047398	0.19827	.	.	ENSG00000204604	ENST00000243639;ENST00000396409;ENST00000390651	T;T	0.08984	3.03;3.03	1.99	1.99	0.26369	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.26521	0.0648	M	0.83774	2.66	0.23519	N	0.997509	D	0.55800	0.973	D	0.65010	0.931	T	0.02676	-1.1125	9	0.87932	D	0	.	8.6967	0.34301	0.0:0.0:0.0:1.0	.	521	Q5VIY5	ZN468_HUMAN	T	521;468;468	ENSP00000379690:K468T;ENSP00000445669:K468T	ENSP00000243639:K521T	K	-	2	0	ZNF468	58035797	0.006000	0.16342	0.118000	0.21660	0.007000	0.05969	-0.249000	0.08842	0.899000	0.36444	0.386000	0.25728	AAG		0.413	ZNF468-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463098.1	NM_001008801		31	79	0	0	0	1	0	31	79					G	53343985	T	G	53343985	3	3	377	1	0	0	0	0	1	0	0	0	17925	1609	56	5	10	5	ZNF468	19	53343985	Missense_Mutation	SNP	T	TCGA-V1-A8WS-01A-11D-A377-08	7166631	53343985	5784998	28	18605											
GGT7	2686	broad.mit.edu	37	chr20	33447832	33447833	+	Frame_Shift_Del	DEL	GG	GG	-																															tgctgcaaaggccaggacttGggaccatggcagcctggggg																										TCGA-V1-A8WS-01A-11D-A377-08	TCGA-V1-A8WS-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8340e524-5498-4243-b80f-416915f3604c	ba0467ad-64f1-43df-81e1-529e66e6e6fe	g.chr20:33447832_33447833delGG	ENST00000336431.5	-	6	800_801	c.756_757delCC	c.(754-759)tcccaafs	p.Q253fs		NM_178026.2	NP_821158.2	Q9UJ14	GGT7_HUMAN	gamma-glutamyltransferase 7	253					glutathione biosynthetic process (GO:0006750)|glutathione metabolic process (GO:0006749)|leukotriene biosynthetic process (GO:0019370)	anchored component of external side of plasma membrane (GO:0031362)|integral component of membrane (GO:0016021)	gamma-glutamyltransferase activity (GO:0003840)|glutathione hydrolase activity (GO:0036374)			NS(2)|breast(1)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2)	20						GCCAGGACTTGGGACCATGGCA	0.639																																						ENST00000336431.5																			0				NS(2)|breast(1)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2)	20						c.(754-759)tcaafs		gamma-glutamyltransferase 7																																				SO:0001589	frameshift_variant	2686				glutathione biosynthetic process	integral to membrane	acyltransferase activity|gamma-glutamyltransferase activity	g.chr20:33447832_33447833delGG	AL049709	CCDS13242.2	20q11.22	2008-11-24	2008-03-10	2008-03-10	ENSG00000131067	ENSG00000131067		"Gamma-glutamyltransferases"	4259	protein-coding gene	gene with protein product		612342	"gamma-glutamyltransferase-like 3"	GGTL5, GGTL3		8104871, 18357469	Standard	NM_178026		Approved	D20S101, dJ18C9.2	uc002xay.3	Q9UJ14	OTTHUMG00000032314	ENST00000336431.5:c.756_757delCC	20.37:g.33447832_33447833delGG	ENSP00000338964:p.Gln253fs						p.SQ252fs	NM_178026.2	NP_821158.2	Q9UJ14	GGT7_HUMAN			6	800_801	-			252					Q8N899|Q8NF66|Q9BYP5|Q9BYP6	Frame_Shift_Del	DEL	ENST00000336431.5	37	c.756_757delCC	CCDS13242.2																																																																																				0.639	GGT7-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000078816.2	NM_178026		2	4						2	4	---	---	---	---	-	33447833	GG	-	33447832	7	5	377	1	0	1	0	1	0	0	0	0	6364	1357	47	0	1271	0	GGT7	20	33447832	Frame_Shift_Del	DEL	GG	TCGA-V1-A8WS-01A-11D-A377-08		33447832	29577688	29	18606											
FAM83D	81610	broad.mit.edu	37	chr20	37580234	37580234	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtaacttggtaattctgtctGgccaagtggttgaacacttt	9	15	10	7	0	2	1	0	1	2	0	2	1	2	1	1	3	2	3	1	3	4	6			TCGA-V1-A8WS-01A-11D-A377-08	TCGA-V1-A8WS-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8340e524-5498-4243-b80f-416915f3604c	ba0467ad-64f1-43df-81e1-529e66e6e6fe	g.chr20:37580234G>T	ENST00000217429.4	+	4	960	c.919G>T	c.(919-921)Ggc>Tgc	p.G307C		NM_030919.2	NP_112181.2	Q9H4H8	FA83D_HUMAN	family with sequence similarity 83, member D	277					mitotic nuclear division (GO:0007067)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				endometrium(2)|kidney(2)|large_intestine(7)|lung(12)|ovary(4)|stomach(1)	28		Myeloproliferative disorder(115;0.00878)				AATTCTGTCTGGCCAAGTGGT	0.438																																						ENST00000217429.4																			0				endometrium(2)|kidney(2)|large_intestine(7)|lung(12)|ovary(4)|stomach(1)	28						c.(919-921)Ggc>Tgc		family with sequence similarity 83, member D							119	115	116					20																	37580234		1951	4134	6085	SO:0001583	missense	81610				cell division|mitosis	cytoplasm|spindle pole		g.chr20:37580234G>T	AL023803	CCDS42872.1	20q11.23	2014-03-13	2006-03-23	2006-03-23	ENSG00000101447	ENSG00000101447			16122	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 129"	C20orf129		23205133	Standard	NM_030919		Approved	dJ616B8.3	uc002xjg.3	Q9H4H8	OTTHUMG00000032462	ENST00000217429.4:c.919G>T	20.37:g.37580234G>T	ENSP00000217429:p.Gly307Cys						p.G307C	NM_030919.2	NP_112181.2	Q9H4H8	FA83D_HUMAN			4	960	+		Myeloproliferative disorder(115;0.00878)	277					B4E1I7|Q5THR2|Q68EN1|Q6P457|Q7Z6H0|Q96DF5|Q96N89|Q9BVM8	Missense_Mutation	SNP	ENST00000217429.4	37	c.919G>T	CCDS42872.1	.	.	.	.	.	.	.	.	.	.	G	26.9	4.784775	0.90282	.	.	ENSG00000101447	ENST00000217429;ENST00000424027	T	0.52057	0.68	5.81	5.81	0.92471	.	0.000000	0.85682	D	0.000000	T	0.76435	0.3987	M	0.90483	3.12	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.80578	-0.1320	10	0.87932	D	0	.	19.6732	0.95918	0.0:0.0:1.0:0.0	.	277	Q9H4H8	FA83D_HUMAN	C	307;261	ENSP00000217429:G307C	ENSP00000217429:G307C	G	+	1	0	FAM83D	37013648	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.344000	0.97050	2.745000	0.94114	0.655000	0.94253	GGC		0.438	FAM83D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079211.1			33	34	1	0	9.04072e-19	1	1.00739e-18	33	34					T	37580234	G	T	37580234	3	4	377	1	0	0	0	0	1	0	0	0	5636	1348	47	5	933	5	FAM83D	20	37580234	Missense_Mutation	SNP	G	TCGA-V1-A8WS-01A-11D-A377-08	4132402	37580234	25445286	30	18607											
SLC12A5	57468	broad.mit.edu	37	chr20	44670163	44670163	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagggcatccctggtgctgcCagtggcctcatcaaaggtct	7	9	12	13	0	3	0	2	0	1	0	4	0	4	0	3	4	2	2	3	4	1	0			TCGA-V1-A8WS-01A-11D-A377-08	TCGA-V1-A8WS-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8340e524-5498-4243-b80f-416915f3604c	ba0467ad-64f1-43df-81e1-529e66e6e6fe	g.chr20:44670163C>A	ENST00000454036.2	+	8	1168	c.1119C>A	c.(1117-1119)gcC>gcA	p.A373A	SLC12A5_ENST00000243964.3_Silent_p.A350A	NM_001134771.1	NP_001128243.1	Q9H2X9	S12A5_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 5	373					cellular ion homeostasis (GO:0006873)|chloride transmembrane transport (GO:1902476)|ion transport (GO:0006811)|learning (GO:0007612)|multicellular organism growth (GO:0035264)|potassium ion transport (GO:0006813)|response to drug (GO:0042493)|synaptic transmission (GO:0007268)|thermosensory behavior (GO:0040040)|transmembrane transport (GO:0055085)|transport (GO:0006810)	dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	CTGGTGCTGCCAGTGGCCTCA	0.567																																						ENST00000454036.1																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80						c.(1117-1119)gcC>gcA		solute carrier family 12 (potassium/chloride transporter), member 5	Bumetanide(DB00887)|Potassium Chloride(DB00761)						59	56	57					20																	44670163		2203	4300	6503	SO:0001819	synonymous_variant	57468				potassium ion transport|sodium ion transport	integral to membrane	potassium:chloride symporter activity	g.chr20:44670163C>A	AB033002	CCDS13391.1, CCDS46610.1	20q13.12	2013-05-22	2010-04-20		ENSG00000124140	ENSG00000124140		"Solute carriers"	13818	protein-coding gene	gene with protein product		606726					Standard	NM_020708		Approved	KIAA1176, KCC2	uc010zxl.1	Q9H2X9	OTTHUMG00000032638	ENST00000454036.2:c.1119C>A	20.37:g.44670163C>A						SLC12A5_ENST00000243964.3_Silent_p.A350A|SLC12A5_ENST00000539566.1_Intron	p.A373A	NM_001134771.1	NP_001128243.1	Q9H2X9	S12A5_HUMAN			8	1195	+		Myeloproliferative disorder(115;0.0122)	373					A2RTX2|Q5VZ41|Q9H4Z0|Q9ULP4	Silent	SNP	ENST00000454036.2	37	c.1119C>A	CCDS46610.1																																																																																				0.567	SLC12A5-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000471538.1			20	41	1	0	1.50039e-11	1	1.62542e-11	20	41					A	44670163	C	A	44670163	2	1	377	1	0	0	0	0	0	0	0	1	14386	581	21	5		5	SLC12A5	20	44670163	Silent	SNP	C	TCGA-V1-A8WS-01A-11D-A377-08	7089929	44670163	18355357	31	18608											
ZNFX1	57169	broad.mit.edu	37	chr20	47887616	47887616	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gaggagggagatgatgttgcTtatgtgctctggatactggt	8	13	16	4	0	1	2	0	1	1	1	1	6	1	4	0	4	3	3	0	4	2	3			TCGA-V1-A8WS-01A-11D-A377-08	TCGA-V1-A8WS-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8340e524-5498-4243-b80f-416915f3604c	ba0467ad-64f1-43df-81e1-529e66e6e6fe	g.chr20:47887616T>G	ENST00000396105.1	-	3	979	c.733A>C	c.(733-735)Agc>Cgc	p.S245R	ZNFX1_ENST00000371754.4_Missense_Mutation_p.S245R|ZNFX1_ENST00000371752.1_Missense_Mutation_p.S245R	NM_021035.2	NP_066363.1	Q9P2E3	ZNFX1_HUMAN	zinc finger, NFX1-type containing 1	245							metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			cervix(2)|endometrium(8)|kidney(7)|large_intestine(15)|liver(1)|lung(17)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	60			BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			ATGATGTTGCTTATGTGCTCT	0.493																																						ENST00000396105.1																			0				cervix(2)|endometrium(8)|kidney(7)|large_intestine(15)|liver(1)|lung(17)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	60						c.(733-735)Agc>Cgc		zinc finger, NFX1-type containing 1							147	149	148					20																	47887616		2203	4300	6503	SO:0001583	missense	57169						metal ion binding	g.chr20:47887616T>G	AK022641	CCDS13417.1	20q13.13	2014-02-12			ENSG00000124201	ENSG00000124201			29271	protein-coding gene	gene with protein product						10718198	Standard	NM_021035		Approved	KIAA1404, FLJ11277	uc002xui.3	Q9P2E3	OTTHUMG00000032696	ENST00000396105.1:c.733A>C	20.37:g.47887616T>G	ENSP00000379412:p.Ser245Arg					ZNFX1_ENST00000371752.1_Missense_Mutation_p.S245R|ZNFX1_ENST00000371754.4_Missense_Mutation_p.S245R	p.S245R	NM_021035.2	NP_066363.1	Q9P2E3	ZNFX1_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		3	979	-			245					Q9BQM7|Q9BQM8|Q9H8C1|Q9H9S2|Q9NUM1|Q9NWW1	Missense_Mutation	SNP	ENST00000396105.1	37	c.733A>C	CCDS13417.1	.	.	.	.	.	.	.	.	.	.	T	11.12	1.543940	0.27563	.	.	ENSG00000124201	ENST00000396106;ENST00000371754;ENST00000371752;ENST00000396105;ENST00000371744;ENST00000455070	T;T;T;T;D	0.81739	-0.32;-0.32;-0.32;-0.32;-1.53	5.87	2.45	0.29901	.	0.407546	0.31061	N	0.008323	T	0.61060	0.2317	L	0.34521	1.04	0.27756	N	0.944009	B	0.32302	0.363	B	0.24541	0.054	T	0.46048	-0.9219	10	0.15952	T	0.53	-11.4971	3.6568	0.08223	0.1586:0.3085:0.0:0.5328	.	245	Q9P2E3	ZNFX1_HUMAN	R	245;245;245;245;245;49	ENSP00000360819:S245R;ENSP00000360817:S245R;ENSP00000379412:S245R;ENSP00000360809:S245R;ENSP00000413800:S49R	ENSP00000360809:S245R	S	-	1	0	ZNFX1	47321023	0.185000	0.23213	0.993000	0.49108	0.997000	0.91878	0.556000	0.23438	0.494000	0.27859	0.533000	0.62120	AGC		0.493	ZNFX1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079647.2	NM_021035		4	52	0	0	0	1	0	4	52					G	47887616	T	G	47887616	3	3	377	1	0	0	0	0	1	0	0	0	18202	1609	56	5	5071	5	ZNFX1	20	47887616	Missense_Mutation	SNP	T	TCGA-V1-A8WS-01A-11D-A377-08	3217453	47887616	15137904	32	18609											
OPRL1	4987	broad.mit.edu	37	chr20	62730046	62730046	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cttccgcaagttctgctgtgCatctgccctgcgccgggacg	4	10	12	15	4	2	0	0	0	2	0	3	1	3	1	3	1	4	4	3	1	1	2			TCGA-V1-A8WS-01A-11D-A377-08	TCGA-V1-A8WS-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8340e524-5498-4243-b80f-416915f3604c	ba0467ad-64f1-43df-81e1-529e66e6e6fe	g.chr20:62730046C>T	ENST00000349451.3	+	6	1419	c.1007C>T	c.(1006-1008)gCa>gTa	p.A336V	OPRL1_ENST00000355631.4_Missense_Mutation_p.A336V|OPRL1_ENST00000336866.2_Missense_Mutation_p.A336V	NM_001200019.1	NP_001186948.1	P41146	OPRX_HUMAN	opiate receptor-like 1	336					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|behavior (GO:0007610)|opioid receptor signaling pathway (GO:0038003)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|sensory perception (GO:0007600)|sensory perception of pain (GO:0019233)	cytoplasmic vesicle (GO:0031410)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|nociceptin receptor activity (GO:0001626)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(2)|urinary_tract(1)	19	all_cancers(38;4.74e-11)|all_epithelial(29;1.33e-12)|Lung NSC(23;3.27e-09)|all_lung(23;1.02e-08)					TTCTGCTGTGCATCTGCCCTG	0.637																																						ENST00000349451.3																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(2)|urinary_tract(1)	19						c.(1006-1008)gCa>gTa		opiate receptor-like 1							93	81	85					20																	62730046		2202	4299	6501	SO:0001583	missense	4987				elevation of cytosolic calcium ion concentration|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception	integral to plasma membrane	protein binding|X-opioid receptor activity	g.chr20:62730046C>T		CCDS13556.1	20q13.33	2012-08-08			ENSG00000125510	ENSG00000125510		"GPCR / Class A : Opioid receptors"	8155	protein-coding gene	gene with protein product	"LC132 receptor-like", "orphanin FQ receptor", "kappa3-related opioid receptor"	602548				8137918	Standard	NM_000913		Approved	NOCIR, ORL1, OOR, KOR-3	uc021wgs.1	P41146	OTTHUMG00000033027	ENST00000349451.3:c.1007C>T	20.37:g.62730046C>T	ENSP00000336764:p.Ala336Val					OPRL1_ENST00000336866.2_Missense_Mutation_p.A336V|OPRL1_ENST00000355631.4_Missense_Mutation_p.A336V	p.A336V	NM_001200019.1	NP_001186948.1	P41146	OPRX_HUMAN			6	1419	+	all_cancers(38;4.74e-11)|all_epithelial(29;1.33e-12)|Lung NSC(23;3.27e-09)|all_lung(23;1.02e-08)		336					Q8TD34|Q8WYH9|Q9H4K4	Missense_Mutation	SNP	ENST00000349451.3	37	c.1007C>T	CCDS13556.1	.	.	.	.	.	.	.	.	.	.	C	13.52	2.261377	0.39995	.	.	ENSG00000125510	ENST00000336866;ENST00000355631;ENST00000349451	T;T;T	0.36878	1.23;1.23;1.23	5.12	5.12	0.69794	.	1.378430	0.04854	N	0.442891	T	0.33962	0.0881	N	0.22421	0.69	0.37050	D	0.897557	B;B	0.18741	0.03;0.018	B;B	0.21917	0.037;0.016	T	0.06481	-1.0824	10	0.19147	T	0.46	.	18.5716	0.91137	0.0:1.0:0.0:0.0	.	331;336	P41146-2;P41146	.;OPRX_HUMAN	V	336	ENSP00000336843:A336V;ENSP00000347848:A336V;ENSP00000336764:A336V	ENSP00000336843:A336V	A	+	2	0	OPRL1	62200490	0.849000	0.29639	0.149000	0.22428	0.191000	0.23601	5.916000	0.69981	2.381000	0.81170	0.550000	0.68814	GCA		0.637	OPRL1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080295.1	NM_182647		14	30	0	0	0	1	0	14	30					T	62730046	C	T	62730046	3	4	377	1	0	0	0	0	1	0	0	0	10886	710	25	3	1017	3	OPRL1	20	62730046	Missense_Mutation	SNP	C	TCGA-V1-A8WS-01A-11D-A377-08	14842430	62730046	295474	33	18610											
CPT1B	1375	broad.mit.edu	37	chr22	51009403	51009403	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgtcgatccctgccccggTcatggccaggcggtacatat	6	9	11	15	3	1	0	1	0	0	0	3	1	2	0	5	4	2	1	5	4	2	2			TCGA-V1-A8WS-01A-11D-A377-08	TCGA-V1-A8WS-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8340e524-5498-4243-b80f-416915f3604c	ba0467ad-64f1-43df-81e1-529e66e6e6fe	g.chr22:51009403T>C	ENST00000360719.2	-	16	2082	c.1945A>G	c.(1945-1947)Acc>Gcc	p.T649A	CPT1B_ENST00000395650.2_Missense_Mutation_p.T649A|CHKB-CPT1B_ENST00000453634.1_3'UTR|CPT1B_ENST00000440709.1_Missense_Mutation_p.T568A|CPT1B_ENST00000457250.1_Missense_Mutation_p.T615A|CPT1B_ENST00000405237.3_Missense_Mutation_p.T649A|CPT1B_ENST00000434492.2_Missense_Mutation_p.T444A|CPT1B_ENST00000312108.7_Missense_Mutation_p.T649A	NM_001145135.1|NM_152245.2	NP_001138607.1|NP_689451.1	Q92523	CPT1B_HUMAN	carnitine palmitoyltransferase 1B (muscle)	649					carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	carnitine O-palmitoyltransferase activity (GO:0004095)			central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		all cancers(3;3.56e-77)|OV - Ovarian serous cystadenocarcinoma(4;5.39e-74)|Epithelial(4;5.58e-70)|GBM - Glioblastoma multiforme(4;5.59e-08)|LUAD - Lung adenocarcinoma(64;0.0016)|Lung(4;0.00942)|BRCA - Breast invasive adenocarcinoma(115;0.207)		CCTGCCCCGGTCATGGCCAGG	0.547																																					Esophageal Squamous(170;988 1933 25577 30295 48163)	ENST00000360719.2																			0				central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						c.(1945-1947)Acc>Gcc		carnitine palmitoyltransferase 1B (muscle)							170	165	167					22																	51009403		2203	4300	6503	SO:0001583	missense	1375				carnitine shuttle|fatty acid beta-oxidation|regulation of fatty acid oxidation	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity	g.chr22:51009403T>C	U62733	CCDS14098.1, CCDS46734.1	22q13.33	2007-07-26			ENSG00000205560	ENSG00000205560			2329	protein-coding gene	gene with protein product		601987				9070950	Standard	NM_152245		Approved	M-CPT1, CPT1-M	uc003bmm.3	Q92523	OTTHUMG00000137390	ENST00000360719.2:c.1945A>G	22.37:g.51009403T>C	ENSP00000353945:p.Thr649Ala					CHKB-CPT1B_ENST00000453634.1_3'UTR|CPT1B_ENST00000434492.2_Missense_Mutation_p.T444A|CPT1B_ENST00000440709.1_Missense_Mutation_p.T568A|CPT1B_ENST00000405237.3_Missense_Mutation_p.T649A|CPT1B_ENST00000395650.2_Missense_Mutation_p.T649A|CPT1B_ENST00000457250.1_Missense_Mutation_p.T615A|CPT1B_ENST00000312108.7_Missense_Mutation_p.T649A	p.T649A	NM_001145135.1|NM_152245.2	NP_001138607.1|NP_689451.1	Q92523	CPT1B_HUMAN		all cancers(3;3.56e-77)|OV - Ovarian serous cystadenocarcinoma(4;5.39e-74)|Epithelial(4;5.58e-70)|GBM - Glioblastoma multiforme(4;5.59e-08)|LUAD - Lung adenocarcinoma(64;0.0016)|Lung(4;0.00942)|BRCA - Breast invasive adenocarcinoma(115;0.207)	16	2082	-		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)	649					B7Z4U4|B7Z5T8|E9PCP2|Q13389|Q99655|Q9BY90	Missense_Mutation	SNP	ENST00000360719.2	37	c.1945A>G	CCDS14098.1	.	.	.	.	.	.	.	.	.	.	T	18.34	3.602739	0.66445	.	.	ENSG00000205560	ENST00000405237;ENST00000312108;ENST00000360719;ENST00000457250;ENST00000440709;ENST00000434492;ENST00000395650	D;D;D;D;D;D;D	0.89270	-2.49;-2.49;-2.49;-2.49;-2.49;-2.49;-2.49	5.74	5.74	0.90152	.	0.000000	0.85682	D	0.000000	D	0.93442	0.7908	M	0.73372	2.23	0.80722	D	1	D;B;D;D	0.89917	0.999;0.443;1.0;0.999	D;B;D;D	0.83275	0.996;0.304;0.986;0.986	D	0.92972	0.6398	10	0.41790	T	0.15	-15.9475	13.9942	0.64386	0.0:0.0:0.0:1.0	.	568;615;444;649	E9PCP2;B7Z4U4;A2RRE8;Q92523	.;.;.;CPT1B_HUMAN	A	649;649;649;615;568;444;649	ENSP00000385486:T649A;ENSP00000312189:T649A;ENSP00000353945:T649A;ENSP00000409342:T615A;ENSP00000414713:T568A;ENSP00000410966:T444A;ENSP00000379011:T649A	ENSP00000312189:T649A	T	-	1	0	CPT1B	49356269	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.587000	0.82613	2.192000	0.70111	0.533000	0.62120	ACC		0.547	CPT1B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317264.5	NM_152246		4	156	0	0	0	1	0	4	156					C	51009403	T	C	51009403	3	2	377	1	0	0	0	0	1	0	0	0	3832	1667	58	4	389	4	CPT1B	22	51009403	Missense_Mutation	SNP	T	TCGA-V1-A8WS-01A-11D-A377-08		51009403	295163	34	18611											
FAM47B	170062	broad.mit.edu	37	chrX	34961838	34961838	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgcgtatctcatctccaccCggagcctcctgagactggag	7	9	10	15	3	2	1	1	1	2	1	6	4	3	3	4	2	1	1	4	2	1	1	rs370213556		TCGA-V1-A8WS-01A-11D-A377-08	TCGA-V1-A8WS-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8340e524-5498-4243-b80f-416915f3604c	ba0467ad-64f1-43df-81e1-529e66e6e6fe	g.chrX:34961838C>T	ENST00000329357.5	+	1	926	c.890C>T	c.(889-891)cCg>cTg	p.P297L		NM_152631.2	NP_689844.2	Q8NA70	FA47B_HUMAN	family with sequence similarity 47, member B	297	Pro-rich.									breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	71						CATCTCCACCCGGAGCCTCCT	0.632													C|||	1	0.000264901	0	0	3775	,	,		10814	0		0	False		,,,				2504	0.001					ENST00000329357.5																			0				breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	71						c.(889-891)cCg>cTg		family with sequence similarity 47, member B		C	LEU/PRO	1,3832		0,1,1630,571	55	54	54		890	-0.5	0	X		54	0,6728		0,0,2428,1872	no	missense	FAM47B	NM_152631.2	98	0,1,4058,2443	TT,TC,CC,C		0.0,0.0261,0.0095	benign	297/646	34961838	1,10560	2202	4300	6502	SO:0001583	missense	170062							g.chrX:34961838C>T	BC035026	CCDS14236.1	Xp21.1	2004-08-09			ENSG00000189132	ENSG00000189132			26659	protein-coding gene	gene with protein product						14702039	Standard	NM_152631		Approved	FLJ35782	uc004ddi.2	Q8NA70	OTTHUMG00000021345	ENST00000329357.5:c.890C>T	X.37:g.34961838C>T	ENSP00000328307:p.Pro297Leu						p.P297L	NM_152631.2	NP_689844.2	Q8NA70	FA47B_HUMAN			1	926	+			297			Pro-rich.		Q5JQN5|Q6PIG3	Missense_Mutation	SNP	ENST00000329357.5	37	c.890C>T	CCDS14236.1	.	.	.	.	.	.	.	.	.	.	C	4.228	0.041221	0.08196	2.61E-4	0.0	ENSG00000189132	ENST00000329357	T	0.22743	1.94	0.235	-0.47	0.12131	.	.	.	.	.	T	0.10680	0.0261	N	0.16833	0.445	0.31669	N	0.644547	B	0.19583	0.037	B	0.11329	0.006	T	0.17349	-1.0372	9	0.45353	T	0.12	.	4.5926	0.12315	0.0:0.693:0.0:0.307	.	297	Q8NA70	FA47B_HUMAN	L	297	ENSP00000328307:P297L	ENSP00000328307:P297L	P	+	2	0	FAM47B	34871759	0.213000	0.23551	0.014000	0.15608	0.014000	0.08584	-1.801000	0.01743	-0.727000	0.04888	-0.724000	0.03597	CCG		0.632	FAM47B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056211.1	NM_152631		10	37	0	0	0	1	0	10	37					T	34961838	C	T	34961838	3	4	377	1	0	0	0	0	1	0	0	0	5570	652	23	2	892	2	FAM47B	23	34961838	Missense_Mutation	SNP	C	TCGA-V1-A8WS-01A-11D-A377-08		34961838	120308722	35	18612											
CXorf38	159013	broad.mit.edu	37	chrX	40506743	40506743	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttcttgtactcggcgcagttGaggcgcgccgctagctccga	5	10	13	13	6	1	1	0	1	1	0	3	2	2	1	2	2	2	5	2	2	2	5			TCGA-V1-A8WS-01A-11D-A377-08	TCGA-V1-A8WS-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8340e524-5498-4243-b80f-416915f3604c	ba0467ad-64f1-43df-81e1-529e66e6e6fe	g.chrX:40506743G>A	ENST00000327877.5	-	1	56	c.30C>T	c.(28-30)ctC>ctT	p.L10L	CXorf38_ENST00000440784.2_Silent_p.L10L|CXorf38_ENST00000378421.1_5'UTR|CXorf38_ENST00000378426.1_5'UTR|CXorf38_ENST00000378418.2_Silent_p.L10L	NM_144970.2	NP_659407.1	Q8TB03	CX038_HUMAN	chromosome X open reading frame 38	10										NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(1)	12						CGGCGCAGTTGAGGCGCGCCG	0.672																																						ENST00000327877.5																			0				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(1)	12						c.(28-30)ctC>ctT		chromosome X open reading frame 38							23	22	22					X																	40506743		2189	4271	6460	SO:0001819	synonymous_variant	159013							g.chrX:40506743G>A	AL832829	CCDS14253.1	Xp11	2008-02-05			ENSG00000185753	ENSG00000185753			28589	protein-coding gene	gene with protein product							Standard	NM_144970		Approved	MGC39350	uc004dew.3	Q8TB03	OTTHUMG00000024104	ENST00000327877.5:c.30C>T	X.37:g.40506743G>A						CXorf38_ENST00000378421.1_5'UTR|CXorf38_ENST00000440784.2_Silent_p.L10L|CXorf38_ENST00000378418.2_Silent_p.L10L|CXorf38_ENST00000378426.1_5'UTR	p.L10L	NM_144970.2	NP_659407.1	Q8TB03	CX038_HUMAN			1	56	-			10					B3KW28|D3DWB5|Q5JPF5|Q8N941	Silent	SNP	ENST00000327877.5	37	c.30C>T	CCDS14253.1																																																																																				0.672	CXorf38-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060685.3	NM_144970		13	7	0	0	0	1	0	13	7					A	40506743	G	A	40506743	2	1	377	1	0	0	0	0	0	0	0	1	4107	1277	45	3		3	CXorf38	23	40506743	Silent	SNP	G	TCGA-V1-A8WS-01A-11D-A377-08	5544905	40506743	114763817	36	18613											
MACF1	23499	broad.mit.edu	37	chr1	39853372	39853372	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctatgctgaatgaggtggAgaagcgccgctccctgctgg	7	8	16	10	2	0	3	0	2	0	1	1	4	1	3	2	4	3	4	2	4	3	1			TCGA-V1-A8WV-01A-11D-A377-08	TCGA-V1-A8WV-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb3d2a6b-9f91-4cc4-8f42-129e41672023	84819ecf-df76-4072-96dc-6a298f4b3b0c	g.chr1:39853372A>G	ENST00000372915.3	+	57	14960	c.14873A>G	c.(14872-14874)gAg>gGg	p.E4958G	MACF1_ENST00000361689.2_Missense_Mutation_p.E2891G|MACF1_ENST00000564288.1_Missense_Mutation_p.E4953G|MACF1_ENST00000289893.4_Missense_Mutation_p.E3393G|MACF1_ENST00000567887.1_Missense_Mutation_p.E4990G|MACF1_ENST00000317713.7_Missense_Mutation_p.E2891G|MACF1_ENST00000539005.1_Missense_Mutation_p.E2870G|MACF1_ENST00000545844.1_Missense_Mutation_p.E2891G			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	4958					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			AATGAGGTGGAGAAGCGCCGC	0.483																																						ENST00000564288.1																			0				breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203						c.(14857-14859)gAg>gGg		microtubule-actin crosslinking factor 1							51	53	52					1																	39853372		2203	4300	6503	SO:0001583	missense	23499				cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding	g.chr1:39853372A>G	AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"EF-hand domain containing"	13664	protein-coding gene	gene with protein product	"actin cross-linking factor", "620 kDa actin binding protein", "macrophin 1", "trabeculin-alpha", "actin cross-linking family protein 7"	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.14873A>G	1.37:g.39853372A>G	ENSP00000362006:p.Glu4958Gly					MACF1_ENST00000317713.7_Missense_Mutation_p.E2891G|MACF1_ENST00000289893.4_Missense_Mutation_p.E3393G|MACF1_ENST00000567887.1_Missense_Mutation_p.E4990G|MACF1_ENST00000372915.3_Missense_Mutation_p.E4958G|MACF1_ENST00000539005.1_Missense_Mutation_p.E2870G|MACF1_ENST00000545844.1_Missense_Mutation_p.E2891G|MACF1_ENST00000361689.2_Missense_Mutation_p.E2891G	p.E4953G			Q9UPN3	MACF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)		58	15635	+	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	4958					B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Missense_Mutation	SNP	ENST00000372915.3	37	c.14858A>G		.	.	.	.	.	.	.	.	.	.	A	18.38	3.611666	0.66558	.	.	ENSG00000127603	ENST00000545844;ENST00000372915;ENST00000361689;ENST00000317713;ENST00000539005;ENST00000289893	T;T;T;T;T;T	0.51817	0.69;0.69;0.69;0.69;0.69;0.69	6.17	6.17	0.99709	.	0.000000	0.64402	D	0.000005	T	0.60547	0.2277	L	0.54323	1.7	0.80722	D	1	D;P;P	0.60160	0.987;0.916;0.843	P;P;P	0.59424	0.857;0.62;0.62	T	0.55373	-0.8151	10	0.29301	T	0.29	.	16.8222	0.85835	1.0:0.0:0.0:0.0	.	4958;2891;2835	Q9UPN3;F8W8Q1;Q9UPN3-3	MACF1_HUMAN;.;.	G	2891;4958;2891;2891;2870;3393	ENSP00000439537:E2891G;ENSP00000362006:E4958G;ENSP00000354573:E2891G;ENSP00000313438:E2891G;ENSP00000444364:E2870G;ENSP00000289893:E3393G	ENSP00000289893:E3393G	E	+	2	0	MACF1	39625959	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.339000	0.96797	2.371000	0.80710	0.533000	0.62120	GAG		0.483	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1	NM_033044		7	24	0	0	0	1	0	7	24					G	39853372	A	G	39853372	3	3	378	1	0	0	0	0	1	0	0	0	9144	304	11	4	15033	4	MACF1	1	39853372	Missense_Mutation	SNP	A	TCGA-V1-A8WV-01A-11D-A377-08		39853372	209397249	1	18614											
ZCCHC11	23318	broad.mit.edu	37	chr1	52947299	52947319	+	Splice_Site	DEL	GCCTTCAATCTATATAAAAAG	GCCTTCAATCTATATAAAAAG	-																															tccattctttttgggtcaaaGccttcaatctatataaaaag																										TCGA-V1-A8WV-01A-11D-A377-08	TCGA-V1-A8WV-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb3d2a6b-9f91-4cc4-8f42-129e41672023	84819ecf-df76-4072-96dc-6a298f4b3b0c	g.chr1:52947299_52947319delGCCTTCAATCTATATAAAAAG	ENST00000371544.3	-	11	1898_1906	c.1636_1644delCTTTTTATATAGATTGAAGGC	c.(1636-1644)ctttttatadel	p.LFI546del	ZCCHC11_ENST00000257177.4_Splice_Site_p.LFI546del|ZCCHC11_ENST00000371541.1_5'UTR	NM_001009881.2|NM_015269.2	NP_001009881.1|NP_056084.1	Q5TAX3	TUT4_HUMAN	zinc finger, CCHC domain containing 11	546					cytokine production (GO:0001816)|miRNA catabolic process (GO:0010587)|miRNA metabolic process (GO:0010586)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|pre-miRNA processing (GO:0031054)|regulation of lipopolysaccharide-mediated signaling pathway (GO:0031664)|RNA 3'-end processing (GO:0031123)|stem cell maintenance (GO:0019827)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|RNA uridylyltransferase activity (GO:0050265)|zinc ion binding (GO:0008270)	p.E547*(1)		NS(2)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(17)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	58						TTGGGTCAAAGCCTTCAATCTATATAAAAAGGCATTCCAAA	0.335																																						ENST00000371544.3																			1	Substitution - Nonsense(1)	p.E547*(1)	NS(1)	NS(2)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(17)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	58						c.e11-1		zinc finger, CCHC domain containing 11																																				SO:0001630	splice_region_variant	23318				miRNA catabolic process|pre-miRNA processing|RNA 3'-end processing|stem cell maintenance	cytoplasm|nucleolus	nucleic acid binding|protein binding|RNA uridylyltransferase activity|zinc ion binding	g.chr1:52947299_52947319delGCCTTCAATCTATATAAAAAG	D83776	CCDS30715.1, CCDS30716.1	1p32.3	2014-03-05			ENSG00000134744	ENSG00000134744		"Zinc fingers, CCHC domain containing"	28981	protein-coding gene	gene with protein product	"TUTase4"	613692				8724849, 12239557	Standard	NM_015269		Approved	KIAA0191, PAPD3, TUT4	uc001cty.2	Q5TAX3	OTTHUMG00000008200	ENST00000371544.3:c.1636-1CTTTTTATATAGATTGAAGGC>-	1.37:g.52947299_52947319delGCCTTCAATCTATATAAAAAG						ZCCHC11_ENST00000257177.4_Splice_Site_p.546_splice|ZCCHC11_ENST00000371541.1_5'UTR	p.546_splice	NM_001009881.2|NM_015269.2	NP_001009881.1|NP_056084.1	Q5TAX3	TUT4_HUMAN			11	1898_1906	-			546					A2RRP0|B7Z8J5|D3DQ35|Q12764|Q5TAX2|Q5TAX4|Q86XZ3	Splice_Site	DEL	ENST00000371544.3	37	c.1635_splice	CCDS30716.1																																																																																				0.335	ZCCHC11-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000022462.1	XM_038288	In_Frame_Del	12	47						12	47	---	---	---	---	-	52947319	GCCTTCAATCTATATAAAAAG	-	52947299	8	5	378	1	0	1	0	1	0	0	1	0	17577	958	34	0	3373	0	ZCCHC11	1	52947299	Splice_Site	DEL	GCCTTCAATCTATATAAAAAG	TCGA-V1-A8WV-01A-11D-A377-08	13093927	52947299	196303322	2	18615											
DOCK7	85440	broad.mit.edu	37	chr1	63027353	63027353	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acctttgtgattatctacccAtttcatgccaggtagaggaa	11	13	8	9	0	2	2	1	1	1	1	2	3	2	3	3	2	2	1	3	2	4	5			TCGA-V1-A8WV-01A-11D-A377-08	TCGA-V1-A8WV-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb3d2a6b-9f91-4cc4-8f42-129e41672023	84819ecf-df76-4072-96dc-6a298f4b3b0c	g.chr1:63027353A>T	ENST00000340370.5	-	19	2151	c.2134T>A	c.(2134-2136)Tgg>Agg	p.W712R	DOCK7_ENST00000251157.5_Missense_Mutation_p.W712R	NM_033407.2	NP_212132.2	Q96N67	DOCK7_HUMAN	dedicator of cytokinesis 7	712	DHR-1.				activation of Rac GTPase activity (GO:0032863)|axonogenesis (GO:0007409)|establishment of neuroblast polarity (GO:0045200)|hematopoietic progenitor cell differentiation (GO:0002244)|interkinetic nuclear migration (GO:0022027)|microtubule cytoskeleton organization (GO:0000226)|neuron projection development (GO:0031175)|pigmentation (GO:0043473)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of neurogenesis (GO:0050767)|small GTPase mediated signal transduction (GO:0007264)	axon (GO:0030424)|basal part of cell (GO:0045178)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|neuron projection (GO:0043005)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rac GTPase binding (GO:0048365)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(19)|lung(42)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	92						TTATCTACCCATTTCATGCCA	0.289																																						ENST00000251157.5																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(19)|lung(42)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	92						c.(2134-2136)Tgg>Agg		dedicator of cytokinesis 7							65	71	69					1																	63027353		2203	4295	6498	SO:0001583	missense	85440				activation of Rac GTPase activity|axonogenesis|establishment of neuroblast polarity|microtubule cytoskeleton organization|positive regulation of peptidyl-serine phosphorylation	axon|basal part of cell|growth cone	GTP binding|guanyl-nucleotide exchange factor activity|Rac GTPase binding	g.chr1:63027353A>T		CCDS30734.1, CCDS60156.1, CCDS60157.1	1p32.1	2008-02-05			ENSG00000116641	ENSG00000116641			19190	protein-coding gene	gene with protein product		615730				12432077	Standard	NM_033407		Approved	KIAA1771, ZIR2	uc001daq.4	Q96N67	OTTHUMG00000013131	ENST00000340370.5:c.2134T>A	1.37:g.63027353A>T	ENSP00000340742:p.Trp712Arg					DOCK7_ENST00000340370.5_Missense_Mutation_p.W712R	p.W712R	NM_001271999.1	NP_001258928.1	Q96N67	DOCK7_HUMAN			19	2167	-			712			DHR-1.		Q00M63|Q2PPY7|Q45RE8|Q45RE9|Q5T1B9|Q5T1C0|Q6ZV32|Q8TB82|Q96NG6|Q96NI0|Q9C092	Missense_Mutation	SNP	ENST00000340370.5	37	c.2134T>A	CCDS30734.1	.	.	.	.	.	.	.	.	.	.	A	22.6	4.308675	0.81247	.	.	ENSG00000116641	ENST00000371140;ENST00000251157;ENST00000340370	T;T	0.33654	1.4;1.4	4.68	4.68	0.58851	.	0.000000	0.85682	D	0.000000	T	0.67325	0.2881	M	0.91663	3.23	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;0.999;1.0	D;D;D;D	0.97110	1.0;1.0;0.999;1.0	T	0.76329	-0.2999	10	0.87932	D	0	.	14.6036	0.68460	1.0:0.0:0.0:0.0	.	712;712;712;712	Q96N67-2;Q96N67-5;Q96N67-4;Q96N67-3	.;.;.;.	R	712	ENSP00000251157:W712R;ENSP00000340742:W712R	ENSP00000251157:W712R	W	-	1	0	DOCK7	62799941	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.139000	0.94554	2.111000	0.64477	0.477000	0.44152	TGG		0.289	DOCK7-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036806.1	NM_033407		14	59	0	0	0	1	0	14	59					T	63027353	A	T	63027353	3	4	378	1	0	0	0	0	1	0	0	0	4692	217	8	5	4319	5	DOCK7	1	63027353	Missense_Mutation	SNP	A	TCGA-V1-A8WV-01A-11D-A377-08	10080054	63027353	186223268	3	18616											
DEPDC1	55635	broad.mit.edu	37	chr1	68947142	68947142	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccagtgacctcgtacccattGcatcatgaagtttgggcata	10	11	9	11	1	1	2	1	2	0	0	2	2	1	2	3	1	2	4	3	1	3	4			TCGA-V1-A8WV-01A-11D-A377-08	TCGA-V1-A8WV-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb3d2a6b-9f91-4cc4-8f42-129e41672023	84819ecf-df76-4072-96dc-6a298f4b3b0c	g.chr1:68947142G>A	ENST00000456315.2	-	9	2030	c.1916C>T	c.(1915-1917)gCa>gTa	p.A639V	RP4-694A7.2_ENST00000425820.1_RNA|DEPDC1_ENST00000370966.5_Missense_Mutation_p.A355V	NM_001114120.1	NP_001107592.1	Q5TB30	DEP1A_HUMAN	DEP domain containing 1	639	Interaction with ZNF224.				intracellular signal transduction (GO:0035556)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	GTPase activator activity (GO:0005096)			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	13				OV - Ovarian serous cystadenocarcinoma(397;7.21e-36)		CGTACCCATTGCATCATGAAG	0.353																																						ENST00000456315.2																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	13						c.(1915-1917)gCa>gTa		DEP domain containing 1							81	75	77					1																	68947142		2203	4300	6503	SO:0001583	missense	55635				intracellular signal transduction|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	transcriptional repressor complex	GTPase activator activity|protein binding	g.chr1:68947142G>A	AK000361	CCDS644.1, CCDS44159.1	1p31.2	2008-08-19			ENSG00000024526	ENSG00000024526			22949	protein-coding gene	gene with protein product		612002					Standard	NM_001114120		Approved	DEP.8, FLJ20354, SDP35, DEPDC1A	uc001dem.4	Q5TB30	OTTHUMG00000009212	ENST00000456315.2:c.1916C>T	1.37:g.68947142G>A	ENSP00000412292:p.Ala639Val					DEPDC1_ENST00000370966.5_Missense_Mutation_p.A355V|RP4-694A7.2_ENST00000425820.1_RNA	p.A639V	NM_001114120.1	NP_001107592.1	Q5TB30	DEP1A_HUMAN		OV - Ovarian serous cystadenocarcinoma(397;7.21e-36)	9	2030	-			639			Interaction with ZNF224.		A8QXE0|A8QXE1|Q05DU3|Q5TB28|Q9H9I3|Q9NX21|Q9NXZ0	Missense_Mutation	SNP	ENST00000456315.2	37	c.1916C>T	CCDS44159.1	.	.	.	.	.	.	.	.	.	.	G	12.09	1.834718	0.32421	.	.	ENSG00000024526	ENST00000456315;ENST00000370966	T;T	0.42131	0.98;0.98	5.72	2.75	0.32379	Rho GTPase-activating protein domain (1);Rho GTPase activation protein (1);	0.250811	0.46442	N	0.000296	T	0.13114	0.0318	L	0.41027	1.25	0.25209	N	0.989991	B;B	0.29571	0.249;0.001	B;B	0.28784	0.094;0.002	T	0.12372	-1.0550	10	0.32370	T	0.25	-0.0047	6.8595	0.24060	0.1993:0.0:0.6739:0.1267	.	639;355	Q5TB30;Q5TB30-2	DEP1A_HUMAN;.	V	639;355	ENSP00000412292:A639V;ENSP00000360005:A355V	ENSP00000360005:A355V	A	-	2	0	DEPDC1	68719730	0.999000	0.42202	0.996000	0.52242	0.971000	0.66376	2.999000	0.49473	0.722000	0.32252	0.655000	0.94253	GCA		0.353	DEPDC1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000025514.2	NM_017779		3	55	0	0	0	1	0	3	55					A	68947142	G	A	68947142	3	1	378	1	0	0	0	0	1	0	0	0	4439	1319	46	3	535	3	DEPDC1	1	68947142	Missense_Mutation	SNP	G	TCGA-V1-A8WV-01A-11D-A377-08	5919789	68947142	180303479	4	18617											
SEMA6C	10500	broad.mit.edu	37	chr1	151107658	151107658	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctctgacaggccccatgccGggcacaccggctgagaggga	8	4	14	15	2	1	2	0	2	1	1	1	4	1	3	5	4	1	2	5	4	0	0	rs370815350		TCGA-V1-A8WV-01A-11D-A377-08	TCGA-V1-A8WV-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb3d2a6b-9f91-4cc4-8f42-129e41672023	84819ecf-df76-4072-96dc-6a298f4b3b0c	g.chr1:151107658G>A	ENST00000341697.3	-	15	3252	c.1561C>T	c.(1561-1563)Cgg>Tgg	p.R521W	SEMA6C_ENST00000479820.1_5'Flank			Q9H3T2	SEM6C_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6C	521					axon guidance (GO:0007411)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	28	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			GCCCCATGCCGGGCACACCGG	0.612																																						ENST00000341697.3																			0				central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	28						c.(1561-1563)Cgg>Tgg		sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6C		G	TRP/ARG,TRP/ARG,TRP/ARG	0,4406		0,0,2203	84	84	84		1561,1441,1561	2.9	1	1		84	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	SEMA6C	NM_001178061.1,NM_001178062.1,NM_030913.4	101,101,101	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging	521/963,481/923,521/931	151107658	1,13005	2203	4300	6503	SO:0001583	missense	10500					integral to membrane	receptor activity	g.chr1:151107658G>A	AF339154	CCDS984.1, CCDS53363.1, CCDS53364.1	1q21.2	2008-02-05			ENSG00000143434	ENSG00000143434		"Semaphorins"	10740	protein-coding gene	gene with protein product	"m-Sema Y2"	609294				12110693	Standard	NM_030913		Approved	KIAA1869	uc001ewv.3	Q9H3T2	OTTHUMG00000012261	ENST00000341697.3:c.1561C>T	1.37:g.151107658G>A	ENSP00000344148:p.Arg521Trp						p.R521W			Q9H3T2	SEM6C_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)		15	3252	-	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		521					D3DV15|Q5JR71|Q5JR72|Q5JR73|Q8WXT8|Q8WXT9|Q8WXU0|Q96JF8	Missense_Mutation	SNP	ENST00000341697.3	37	c.1561C>T	CCDS984.1	.	.	.	.	.	.	.	.	.	.	G	17.58	3.424464	0.62733	0.0	1.16E-4	ENSG00000143434	ENST00000368914;ENST00000368912;ENST00000368913;ENST00000341697	T;T;T;T	0.19532	2.14;2.14;2.14;2.14	4.82	2.91	0.33838	.	0.471733	0.23112	N	0.051789	T	0.24699	0.0599	M	0.68952	2.095	0.29761	N	0.835537	D;D;D;D	0.76494	0.999;0.987;0.994;0.992	P;P;P;B	0.60789	0.879;0.528;0.634;0.41	T	0.04870	-1.0921	10	0.72032	D	0.01	.	11.6007	0.51001	0.0:0.0:0.6766:0.3234	.	521;481;521;521	B4DZD4;Q9H3T2-2;Q9H3T2-3;Q9H3T2	.;.;.;SEM6C_HUMAN	W	521;481;521;521	ENSP00000357910:R521W;ENSP00000357908:R481W;ENSP00000357909:R521W;ENSP00000344148:R521W	ENSP00000344148:R521W	R	-	1	2	SEMA6C	149374282	0.000000	0.05858	0.997000	0.53966	0.994000	0.84299	0.143000	0.16115	0.621000	0.30232	0.561000	0.74099	CGG		0.612	SEMA6C-004	KNOWN	alternative_5_UTR|mRNA_start_NF|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000034074.1	NM_030913		10	32	0	0	0	1	0	10	32					A	151107658	G	A	151107658	3	1	378	1	0	0	0	0	1	0	0	0	14041	1115	39	2	1351	2	SEMA6C	1	151107658	Missense_Mutation	SNP	G	TCGA-V1-A8WV-01A-11D-A377-08	82160516	151107658	98142963	5	18618											
CD5L	922	broad.mit.edu	37	chr1	157803022	157803022	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttcctggtgggtgcagtcGtgaaacccccaaaatctgtg	8	11	11	11	1	2	1	0	1	2	0	4	1	3	1	3	2	2	1	3	2	3	1	rs528223690		TCGA-V1-A8WV-01A-11D-A377-08	TCGA-V1-A8WV-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb3d2a6b-9f91-4cc4-8f42-129e41672023	84819ecf-df76-4072-96dc-6a298f4b3b0c	g.chr1:157803022G>A	ENST00000368174.4	-	5	1095	c.999C>T	c.(997-999)caC>caT	p.H333H	CD5L_ENST00000484609.1_5'Flank	NM_005894.2	NP_005885.1	O43866	CD5L_HUMAN	CD5 molecule-like	333	SRCR 3. {ECO:0000255|PROSITE- ProRule:PRU00196}.				apoptotic process (GO:0006915)|cellular defense response (GO:0006968)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	scavenger receptor activity (GO:0005044)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	52	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			GGGTGCAGTCGTGAAACCCCC	0.552													G|||	1	0.000199681	0	0.0014	5008	,	,		18706	0		0	False		,,,				2504	0					ENST00000368174.4																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	52						c.(997-999)caC>caT		CD5 molecule-like							98	95	96					1																	157803022		2203	4300	6503	SO:0001819	synonymous_variant	922				apoptosis|cellular defense response	extracellular space|membrane	scavenger receptor activity	g.chr1:157803022G>A	U82812	CCDS1171.1	1q21-q23	2008-02-05	2006-03-28		ENSG00000073754	ENSG00000073754			1690	protein-coding gene	gene with protein product		602592	"apoptosis inhibitor 6", "CD5 antigen-like (scavenger receptor cysteine rich family)"	API6		9045627	Standard	NM_005894		Approved	Spalpha	uc001frk.4	O43866	OTTHUMG00000022440	ENST00000368174.4:c.999C>T	1.37:g.157803022G>A							p.H333H	NM_005894.2	NP_005885.1	O43866	CD5L_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.24)		5	1095	-	all_hematologic(112;0.0378)		333			SRCR 3.		A8K7M5|Q6UX63	Silent	SNP	ENST00000368174.4	37	c.999C>T	CCDS1171.1																																																																																				0.552	CD5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058346.1	NM_005894		31	39	0	0	0	1	0	31	39					A	157803022	G	A	157803022	2	1	378	1	0	0	0	0	0	0	0	1	3027	1136	40	1		1	CD5L	1	157803022	Silent	SNP	G	TCGA-V1-A8WV-01A-11D-A377-08	6695364	157803022	91447599	6	18619											
CACNA1E	777	broad.mit.edu	37	chr1	181701857	181701857	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cccctttgtccctgggccagCgggagccaccatggctggcc	4	7	13	17	1	0	0	0	0	0	0	1	1	1	1	7	4	2	1	7	4	0	1			TCGA-V1-A8WV-01A-11D-A377-08	TCGA-V1-A8WV-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb3d2a6b-9f91-4cc4-8f42-129e41672023	84819ecf-df76-4072-96dc-6a298f4b3b0c	g.chr1:181701857C>T	ENST00000367573.2	+	20	2635	c.2635C>T	c.(2635-2637)Cgg>Tgg	p.R879W	CACNA1E_ENST00000367570.1_Missense_Mutation_p.R879W|CACNA1E_ENST00000360108.3_Missense_Mutation_p.R860W|CACNA1E_ENST00000526775.1_Missense_Mutation_p.R860W|CACNA1E_ENST00000358338.5_Missense_Mutation_p.R811W|CACNA1E_ENST00000367567.4_Missense_Mutation_p.R486W|CACNA1E_ENST00000357570.5_Missense_Mutation_p.R830W	NM_001205293.1	NP_001192222.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	879					calcium ion import (GO:0070509)|energy reserve metabolic process (GO:0006112)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|voltage-gated calcium channel activity (GO:0005245)			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						CCTGGGCCAGCGGGAGCCACC	0.672																																						ENST00000526775.1																			0				NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						c.(2578-2580)Cgg>Tgg		calcium channel, voltage-dependent, R type, alpha 1E subunit							20	24	23					1																	181701857		1992	4161	6153	SO:0001583	missense	777				energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr1:181701857C>T	AK096563	CCDS53443.1, CCDS55664.1, CCDS55665.1	1q25.3	2013-01-10	2007-02-16		ENSG00000198216	ENSG00000198216		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels", "EF-hand domain containing"	1392	protein-coding gene	gene with protein product		601013		CACNL1A6		8388125, 16382099	Standard	NM_001205293		Approved	Cav2.3, BII, CACH6	uc009wxt.3	Q15878	OTTHUMG00000037301	ENST00000367573.2:c.2635C>T	1.37:g.181701857C>T	ENSP00000356545:p.Arg879Trp					CACNA1E_ENST00000367570.1_Missense_Mutation_p.R879W|CACNA1E_ENST00000360108.3_Missense_Mutation_p.R860W|CACNA1E_ENST00000367567.4_Missense_Mutation_p.R486W|CACNA1E_ENST00000358338.5_Missense_Mutation_p.R811W|CACNA1E_ENST00000367573.2_Missense_Mutation_p.R879W|CACNA1E_ENST00000357570.5_Missense_Mutation_p.R830W	p.R860W	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN			19	2743	+			879					B1AM12|B1AM13|B1AM14|Q14580|Q14581	Missense_Mutation	SNP	ENST00000367573.2	37	c.2578C>T	CCDS55664.1	.	.	.	.	.	.	.	.	.	.	C	14.42	2.530862	0.45073	.	.	ENSG00000198216	ENST00000367570;ENST00000526775;ENST00000357570;ENST00000358338;ENST00000367567;ENST00000360108;ENST00000367573	D;D;D;D;D;D;D	0.96427	-3.95;-3.95;-3.95;-3.95;-4.01;-3.96;-3.95	4.13	3.22	0.36961	.	0.864527	0.10403	N	0.678978	D	0.89508	0.6735	N	0.08118	0	0.29857	N	0.827973	D;D;D	0.60575	0.987;0.988;0.987	B;B;B	0.41299	0.319;0.353;0.319	D	0.85618	0.1262	10	0.59425	D	0.04	.	7.3091	0.26465	0.2048:0.7028:0.0:0.0925	.	860;879;879	Q15878-2;Q15878;Q15878-3	.;CAC1E_HUMAN;.	W	879;860;830;811;486;860;879	ENSP00000356542:R879W;ENSP00000434814:R860W;ENSP00000350183:R830W;ENSP00000351101:R811W;ENSP00000356539:R486W;ENSP00000353222:R860W;ENSP00000356545:R879W	ENSP00000350183:R830W	R	+	1	2	CACNA1E	179968480	0.057000	0.20700	0.961000	0.40146	0.421000	0.31385	0.304000	0.19228	1.332000	0.45431	0.555000	0.69702	CGG		0.672	CACNA1E-003	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090793.2	NM_000721		11	17	0	0	0	1	0	11	17					T	181701857	C	T	181701857	3	4	378	1	0	0	0	0	1	0	0	0	2542	759	27	1	2713	1	CACNA1E	1	181701857	Missense_Mutation	SNP	C	TCGA-V1-A8WV-01A-11D-A377-08	23898835	181701857	67548764	7	18620											
ZRANB3	84083	broad.mit.edu	37	chr2	135965348	135965348	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agagggcttcacagtgagatCtgcctggactgtgtatggat	9	11	14	7	0	2	2	1	1	1	2	2	5	2	4	1	3	1	2	1	3	1	2			TCGA-V1-A8WV-01A-11D-A377-08	TCGA-V1-A8WV-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb3d2a6b-9f91-4cc4-8f42-129e41672023	84819ecf-df76-4072-96dc-6a298f4b3b0c	g.chr2:135965348C>A	ENST00000264159.6	-	19	2781	c.2665G>T	c.(2665-2667)Gat>Tat	p.D889Y	ZRANB3_ENST00000401392.1_Missense_Mutation_p.D887Y|ZRANB3_ENST00000412849.1_5'UTR|ZRANB3_ENST00000536680.1_Missense_Mutation_p.D887Y	NM_032143.2	NP_115519.2	Q5FWF4	ZRAB3_HUMAN	zinc finger, RAN-binding domain containing 3	889					cellular response to DNA damage stimulus (GO:0006974)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|DNA rewinding (GO:0036292)|DNA strand renaturation (GO:0000733)|negative regulation of DNA recombination (GO:0045910)|replication fork processing (GO:0031297)|replication fork protection (GO:0048478)|response to UV (GO:0009411)	nuclear replication fork (GO:0043596)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|endodeoxyribonuclease activity (GO:0004520)|helicase activity (GO:0004386)|K63-linked polyubiquitin binding (GO:0070530)|zinc ion binding (GO:0008270)			NS(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|upper_aerodigestive_tract(1)	20				BRCA - Breast invasive adenocarcinoma(221;0.135)		ACAGTGAGATCTGCCTGGACT	0.423																																						ENST00000401392.1																			0				NS(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|upper_aerodigestive_tract(1)	20						c.(2659-2661)Gat>Tat		zinc finger, RAN-binding domain containing 3							103	97	99					2																	135965348		1938	4141	6079	SO:0001583	missense	84083					intracellular	ATP binding|DNA binding|endonuclease activity|helicase activity|zinc ion binding	g.chr2:135965348C>A	AL136824	CCDS46419.1, CCDS67963.1, CCDS74580.1	2q21.3	2013-05-13			ENSG00000121988	ENSG00000121988		"Zinc fingers, RAN-binding domain containing"	25249	protein-coding gene	gene with protein product						11230166	Standard	XM_005263809		Approved	DKFZP434B1727	uc002tum.3	Q5FWF4	OTTHUMG00000150475	ENST00000264159.6:c.2665G>T	2.37:g.135965348C>A	ENSP00000264159:p.Asp889Tyr					ZRANB3_ENST00000412849.1_5'UTR|ZRANB3_ENST00000536680.1_Missense_Mutation_p.D887Y|ZRANB3_ENST00000264159.6_Missense_Mutation_p.D889Y	p.D887Y			Q5FWF4	ZRAB3_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.135)	19	2871	-			889					B3KYA1|B4E375|B5MDI3|D3DP76|E9PBP0|Q53SM1|Q6P2C4|Q8N1P4|Q9H0E8	Missense_Mutation	SNP	ENST00000264159.6	37	c.2659G>T	CCDS46419.1	.	.	.	.	.	.	.	.	.	.	C	15.17	2.753322	0.49362	.	.	ENSG00000121988	ENST00000538542;ENST00000283060;ENST00000401392;ENST00000264159;ENST00000536680	D;D;D	0.91407	-2.84;-2.84;-2.83	6.03	5.15	0.70609	.	0.760681	0.13163	N	0.408903	D	0.91171	0.7219	M	0.63428	1.95	0.24784	N	0.992794	B;P	0.34462	0.325;0.454	B;B	0.38616	0.143;0.277	D	0.85343	0.1097	10	0.72032	D	0.01	-15.9688	17.2362	0.86999	0.0:0.8741:0.1259:0.0	.	889;887	Q5FWF4;Q5FWF4-3	ZRAB3_HUMAN;.	Y	352;352;887;889;887	ENSP00000383979:D887Y;ENSP00000264159:D889Y;ENSP00000441320:D887Y	ENSP00000264159:D889Y	D	-	1	0	ZRANB3	135681818	0.075000	0.21258	0.275000	0.24674	0.021000	0.10359	2.318000	0.43779	1.574000	0.49760	-0.122000	0.15005	GAT		0.423	ZRANB3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318254.1	NM_032143		4	47	1	0	1	1	1	4	47					A	135965348	C	A	135965348	3	1	378	1	0	0	0	0	1	0	0	0	18221	913	32	5	586	5	ZRANB3	2	135965348	Missense_Mutation	SNP	C	TCGA-V1-A8WV-01A-11D-A377-08		135965348	107234025	8	18621											
TMEM198	130612	broad.mit.edu	37	chr2	220412497	220412497	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctactaccagccaggctccGtgtggggtccactggggctg	5	8	14	14	1	0	0	0	0	0	0	2	0	2	0	5	5	3	2	5	5	2	2	rs369931895		TCGA-V1-A8WV-01A-11D-A377-08	TCGA-V1-A8WV-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb3d2a6b-9f91-4cc4-8f42-129e41672023	84819ecf-df76-4072-96dc-6a298f4b3b0c	g.chr2:220412497G>A	ENST00000344458.2	+	4	1021	c.436G>A	c.(436-438)Gtg>Atg	p.V146M	MIR3132_ENST00000581997.1_RNA|TMEM198_ENST00000373883.3_Missense_Mutation_p.V146M|RP11-256I23.1_ENST00000596829.1_RNA			Q66K66	TM198_HUMAN	transmembrane protein 198	146	Leu-rich.				multicellular organismal development (GO:0007275)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|Wnt signaling pathway (GO:0016055)	cytoplasmic membrane-bounded vesicle (GO:0016023)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	16		Renal(207;0.0376)		Epithelial(149;6.49e-08)|all cancers(144;6.45e-06)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802)		GCCAGGCTCCGTGTGGGGTCC	0.721																																						ENST00000344458.2																			0				NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	16						c.(436-438)Gtg>Atg		transmembrane protein 198							16	19	18					2																	220412497		2184	4271	6455	SO:0001583	missense	130612					integral to membrane		g.chr2:220412497G>A	BC068567	CCDS33385.1	2q35	2011-12-06			ENSG00000188760	ENSG00000188760			33704	protein-coding gene	gene with protein product							Standard	NM_001005209		Approved	MGC99813, TMEM198A	uc002vmf.3	Q66K66	OTTHUMG00000059156	ENST00000344458.2:c.436G>A	2.37:g.220412497G>A	ENSP00000343507:p.Val146Met					TMEM198_ENST00000373883.3_Missense_Mutation_p.V146M	p.V146M			Q66K66	TM198_HUMAN		Epithelial(149;6.49e-08)|all cancers(144;6.45e-06)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802)	4	1021	+		Renal(207;0.0376)	146			Leu-rich.			Missense_Mutation	SNP	ENST00000344458.2	37	c.436G>A	CCDS33385.1	.	.	.	.	.	.	.	.	.	.	G	26.2	4.709959	0.89018	.	.	ENSG00000188760	ENST00000344458;ENST00000421791;ENST00000373883	.	.	.	4.05	4.05	0.47172	.	0.202645	0.42420	D	0.000709	T	0.76891	0.4051	M	0.73598	2.24	0.44976	D	0.997998	D	0.89917	1.0	D	0.68353	0.957	T	0.76942	-0.2772	9	0.34782	T	0.22	-24.4146	16.3706	0.83357	0.0:0.0:1.0:0.0	.	146	Q66K66	TM198_HUMAN	M	146	.	ENSP00000343507:V146M	V	+	1	0	TMEM198	220120741	1.000000	0.71417	0.988000	0.46212	0.978000	0.69477	9.219000	0.95173	2.253000	0.74438	0.591000	0.81541	GTG		0.721	TMEM198-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131063.1	NM_001005209		6	21	0	0	0	1	0	6	21					A	220412497	G	A	220412497	3	1	378	1	0	0	0	0	1	0	0	0	16116	1145	40	1	442	1	TMEM198	2	220412497	Missense_Mutation	SNP	G	TCGA-V1-A8WV-01A-11D-A377-08	84447149	220412497	22786876	9	18622											
VGLL3	389136	broad.mit.edu	37	chr3	87018025	87018025	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcatgcatatggctgtaggAtgggctcacctgagatgtca	9	11	13	8	0	3	1	3	1	0	1	3	3	3	2	1	3	1	4	1	3	2	2			TCGA-V1-A8WV-01A-11D-A377-08	TCGA-V1-A8WV-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb3d2a6b-9f91-4cc4-8f42-129e41672023	84819ecf-df76-4072-96dc-6a298f4b3b0c	g.chr3:87018025A>G	ENST00000398399.2	-	3	1015	c.652T>C	c.(652-654)Tcc>Ccc	p.S218P	VGLL3_ENST00000383698.3_Missense_Mutation_p.S218P	NM_016206.2	NP_057290.2			vestigial-like family member 3											NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(11)	19	all_cancers(8;0.109)|Lung SC(3;0.184)	Lung NSC(201;0.0777)		LUSC - Lung squamous cell carcinoma(29;0.00241)|Lung(72;0.00712)		TGGCTGTAGGATGGGCTCACC	0.607																																						ENST00000398399.2																			0				NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(11)	19						c.(652-654)Tcc>Ccc		vestigial like 3 (Drosophila)							86	90	89					3																	87018025		2164	4272	6436	SO:0001583	missense	389136				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chr3:87018025A>G	AF099505	CCDS43110.1	3p12.1	2014-03-03	2014-03-03		ENSG00000206538	ENSG00000206538			24327	protein-coding gene	gene with protein product		609980	"vestigial like 3 (Drosophila)"			12376544	Standard	NM_016206		Approved	VGL-3	uc003dqn.3	A8MV65	OTTHUMG00000158984	ENST00000398399.2:c.652T>C	3.37:g.87018025A>G	ENSP00000381436:p.Ser218Pro					VGLL3_ENST00000383698.3_Missense_Mutation_p.S218P	p.S218P	NM_016206.2	NP_057290.2	A8MV65	VGLL3_HUMAN		LUSC - Lung squamous cell carcinoma(29;0.00241)|Lung(72;0.00712)	3	1015	-	all_cancers(8;0.109)|Lung SC(3;0.184)	Lung NSC(201;0.0777)	218						Missense_Mutation	SNP	ENST00000398399.2	37	c.652T>C	CCDS43110.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	10.79|10.79	1.450550|1.450550	0.26074|0.26074	.|.	.|.	ENSG00000206538|ENSG00000206538	ENST00000494229|ENST00000398399;ENST00000383698	.|T;T	.|0.47869	.|0.83;0.84	5.81|5.81	4.65|4.65	0.58169|0.58169	.|.	.|0.289185	.|0.27917	.|N	.|0.017325	T|T	0.31606|0.31606	0.0802|0.0802	N|N	0.22421|0.22421	0.69|0.69	0.29166|0.29166	N|N	0.877463|0.877463	.|B	.|0.10296	.|0.003	.|B	.|0.08055	.|0.003	T|T	0.17837|0.17837	-1.0356|-1.0356	5|10	.|0.35671	.|T	.|0.21	-6.9328|-6.9328	8.7059|8.7059	0.34354|0.34354	0.8521:0.0:0.1479:0.0|0.8521:0.0:0.1479:0.0	.|.	.|218	.|A8MV65	.|VGLL3_HUMAN	T|P	151|218	.|ENSP00000381436:S218P;ENSP00000373199:S218P	.|ENSP00000373199:S218P	I|S	-|-	2|1	0|0	VGLL3|VGLL3	87100715|87100715	0.929000|0.929000	0.31497|0.31497	0.988000|0.988000	0.46212|0.46212	0.989000|0.989000	0.77384|0.77384	1.361000|1.361000	0.34136|0.34136	1.029000|1.029000	0.39812|0.39812	0.418000|0.418000	0.28097|0.28097	ATC|TCC		0.607	VGLL3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000352805.1	NM_016206		8	48	0	0	0	1	0	8	48					G	87018025	A	G	87018025	3	3	378	1	0	0	0	0	1	0	0	0	17157	333	12	4	336	4	VGLL3	3	87018025	Missense_Mutation	SNP	A	TCGA-V1-A8WV-01A-11D-A377-08		87018025	111004405	10	18623											
CENPE	1062	broad.mit.edu	37	chr4	104044027	104044027	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	attttataagaaattatataCctctgtggttaactgtgtag	13	17	7	4	0	1	1	0	0	1	1	1	1	1	1	1	1	2	2	1	1	8	8			TCGA-V1-A8WV-01A-11D-A377-08	TCGA-V1-A8WV-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb3d2a6b-9f91-4cc4-8f42-129e41672023	84819ecf-df76-4072-96dc-6a298f4b3b0c	g.chr4:104044027C>T	ENST00000265148.3	-	43	7233		c.e43+1		CENPE_ENST00000380026.3_Splice_Site	NM_001813.2	NP_001804.2	Q02224	CENPE_HUMAN	centromere protein E, 312kDa						antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|kinetochore assembly (GO:0051382)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic chromosome movement towards spindle pole (GO:0007079)|mitotic metaphase plate congression (GO:0007080)|multicellular organismal development (GO:0007275)|positive regulation of protein kinase activity (GO:0045860)|regulation of mitotic metaphase/anaphase transition (GO:0030071)	chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|condensed chromosome outer kinetochore (GO:0000940)|condensed chromosome, centromeric region (GO:0000779)|condensed nuclear chromosome kinetochore (GO:0000778)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|midbody (GO:0030496)|mitotic spindle midzone (GO:1990023)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|kinetochore binding (GO:0043515)|microtubule motor activity (GO:0003777)			NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3)	101				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)		AAATTATATACCTCTGTGGTT	0.343																																						ENST00000265148.3																			0				NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3)	101						c.e43+1		centromere protein E, 312kDa							125	132	130					4																	104044027		2203	4300	6503	SO:0001630	splice_region_variant	1062				blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity	condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle	ATP binding|kinetochore binding|microtubule motor activity	g.chr4:104044027C>T	Z15005	CCDS34042.1, CCDS68768.1	4q24-q25	2013-11-05	2002-08-29			ENSG00000138778		"Kinesins", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	1856	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 61"	117143	"centromere protein E (312kD)"			7851898	Standard	NM_001286734		Approved	KIF10, PPP1R61	uc003hxb.1	Q02224		ENST00000265148.3:c.7143+1G>A	4.37:g.104044027C>T						CENPE_ENST00000380026.3_Splice_Site		NM_001813.2	NP_001804.2	Q02224	CENPE_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)	43	7233	-								A6NKY9|A8K2U7|Q4LE75	Splice_Site	SNP	ENST00000265148.3	37		CCDS34042.1	.	.	.	.	.	.	.	.	.	.	C	12.80	2.046657	0.36085	.	.	ENSG00000138778	ENST00000265148;ENST00000380026	.	.	.	4.57	4.57	0.56435	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.8659	0.57939	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CENPE	104263476	1.000000	0.71417	0.984000	0.44739	0.339000	0.28857	3.691000	0.54720	2.070000	0.61991	0.467000	0.42956	.		0.343	CENPE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding			Intron	8	54	0	0	0	1	0	8	54					T	104044027	C	T	104044027	5	4	378	1	0	0	0	0	0	0	1	0	3230	521	18	3	989	3	CENPE	4	104044027	Splice_Site	SNP	C	TCGA-V1-A8WV-01A-11D-A377-08		104044027	87110249	11	18624											
ERBB2IP	55914	broad.mit.edu	37	chr5	65322164	65322164	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaatataactgtgctgtttcTccattccaataaacttgaga	14	14	5	8	0	1	1	0	1	1	1	3	2	2	1	2	0	3	2	2	0	6	6			TCGA-V1-A8WV-01A-11D-A377-08	TCGA-V1-A8WV-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb3d2a6b-9f91-4cc4-8f42-129e41672023	84819ecf-df76-4072-96dc-6a298f4b3b0c	g.chr5:65322164T>C	ENST00000284037.5	+	13	1444	c.1055T>C	c.(1054-1056)cTc>cCc	p.L352P	ERBB2IP_ENST00000508515.1_Missense_Mutation_p.L352P|ERBB2IP_ENST00000380943.2_Missense_Mutation_p.L352P|ERBB2IP_ENST00000506030.1_Missense_Mutation_p.L352P|ERBB2IP_ENST00000380936.1_Missense_Mutation_p.L352P|ERBB2IP_ENST00000380939.2_Missense_Mutation_p.L352P|ERBB2IP_ENST00000380938.2_Missense_Mutation_p.L352P|ERBB2IP_ENST00000380935.1_Missense_Mutation_p.L352P|ERBB2IP_ENST00000416865.2_Missense_Mutation_p.L352P|ERBB2IP_ENST00000511297.1_Missense_Mutation_p.L352P	NM_001253697.1	NP_001240626.1	Q96RT1	LAP2_HUMAN	erbb2 interacting protein	352					basal protein localization (GO:0045175)|cell adhesion (GO:0007155)|cell cycle (GO:0007049)|cell growth (GO:0016049)|epidermal growth factor receptor signaling pathway (GO:0007173)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|signal transduction (GO:0007165)	basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|hemidesmosome (GO:0030056)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ErbB-2 class receptor binding (GO:0005176)|integrin binding (GO:0005178)|structural constituent of cytoskeleton (GO:0005200)			breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|skin(2)	36		Lung NSC(167;9.45e-06)|Prostate(74;0.0139)|Ovarian(174;0.0547)|Breast(144;0.093)|Colorectal(97;0.234)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0767)|Lung(70;0.00191)		GTGCTGTTTCTCCATTCCAAT	0.303																																						ENST00000284037.5																			0				breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|skin(2)	36						c.(1054-1056)cTc>cCc		erbb2 interacting protein							74	79	77					5																	65322164		2203	4293	6496	SO:0001583	missense	55914				basal protein localization|cell adhesion|cell cycle|cell growth|epidermal growth factor receptor signaling pathway|establishment or maintenance of epithelial cell apical/basal polarity|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization	basement membrane|cytoplasm|hemidesmosome|nucleus	ErbB-2 class receptor binding|integrin binding|structural constituent of cytoskeleton	g.chr5:65322164T>C		CCDS3990.1, CCDS34172.1, CCDS58951.1, CCDS58952.1, CCDS58953.1, CCDS58954.1	5p14.3-q12.3	2008-07-18	2001-11-29		ENSG00000112851	ENSG00000112851			15842	protein-coding gene	gene with protein product	"densin-180-like protein", "ERBB2-interacting protein"	606944	"erbb2-interacting protein"			10574462, 10878805	Standard	NM_001253697		Approved	ERBIN, LAP2	uc011cqx.2	Q96RT1	OTTHUMG00000097808	ENST00000284037.5:c.1055T>C	5.37:g.65322164T>C	ENSP00000284037:p.Leu352Pro					ERBB2IP_ENST00000511297.1_Missense_Mutation_p.L352P|ERBB2IP_ENST00000416865.2_Missense_Mutation_p.L352P|ERBB2IP_ENST00000380938.2_Missense_Mutation_p.L352P|ERBB2IP_ENST00000506030.1_Missense_Mutation_p.L352P|ERBB2IP_ENST00000380943.2_Missense_Mutation_p.L352P|ERBB2IP_ENST00000508515.1_Missense_Mutation_p.L352P|ERBB2IP_ENST00000380939.2_Missense_Mutation_p.L352P|ERBB2IP_ENST00000380936.1_Missense_Mutation_p.L352P|ERBB2IP_ENST00000380935.1_Missense_Mutation_p.L352P	p.L352P	NM_001253697.1	NP_001240626.1	Q96RT1	LAP2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;0.0767)|Lung(70;0.00191)	13	1444	+		Lung NSC(167;9.45e-06)|Prostate(74;0.0139)|Ovarian(174;0.0547)|Breast(144;0.093)|Colorectal(97;0.234)	352					A0AVR1|B4E3F1|B7ZLV9|E7EQW9|E9PCR8|Q1RMD0|Q86W38|Q9NR18|Q9NW48|Q9ULJ5	Missense_Mutation	SNP	ENST00000284037.5	37	c.1055T>C	CCDS58953.1	.	.	.	.	.	.	.	.	.	.	T	22.1	4.244709	0.79912	.	.	ENSG00000112851	ENST00000284037;ENST00000380943;ENST00000416865;ENST00000380939;ENST00000380936;ENST00000380935;ENST00000380938;ENST00000511297;ENST00000506030;ENST00000508515	T;T;T;T;T;T;T;T;T;T	0.75821	-0.97;-0.97;-0.97;-0.97;-0.97;-0.97;-0.97;-0.97;-0.97;-0.97	4.93	4.93	0.64822	.	0.000000	0.85682	D	0.000000	D	0.89979	0.6872	H	0.95437	3.67	0.80722	D	1	D;D;D;D;D;D;D;D	0.89917	1.0;1.0;0.999;1.0;0.999;1.0;0.999;0.999	D;D;D;D;D;D;D;D	0.97110	0.996;0.994;0.995;1.0;0.987;1.0;0.993;0.987	D	0.92988	0.6412	10	0.87932	D	0	.	14.8798	0.70522	0.0:0.0:0.0:1.0	.	352;352;352;352;352;352;352;352	B4DIP2;Q96RT1-4;E9PCR8;B7ZLV9;E7EQW9;Q96RT1;Q96RT1-7;Q96RT1-2	.;.;.;.;.;LAP2_HUMAN;.;.	P	352	ENSP00000284037:L352P;ENSP00000370330:L352P;ENSP00000397833:L352P;ENSP00000370326:L352P;ENSP00000370323:L352P;ENSP00000370322:L352P;ENSP00000370325:L352P;ENSP00000422766:L352P;ENSP00000426632:L352P;ENSP00000422015:L352P	ENSP00000284037:L352P	L	+	2	0	ERBB2IP	65357920	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.651000	0.83577	1.975000	0.57531	0.533000	0.62120	CTC		0.303	ERBB2IP-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000215070.1	NM_018695		12	46	0	0	0	1	0	12	46					C	65322164	T	C	65322164	3	2	378	1	0	0	0	0	1	0	0	0	5207	1551	54	4	1097	4	ERBB2IP	5	65322164	Missense_Mutation	SNP	T	TCGA-V1-A8WV-01A-11D-A377-08		65322164	115593096	12	18625											
PCDHGA3	56112	broad.mit.edu	37	chr5	140723618	140723618	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gaaatgaccaattgcctgagTttccgaaatggcagaggact	13	9	11	8	1	0	3	0	2	0	1	1	6	1	4	3	2	1	2	3	2	3	2			TCGA-V1-A8WV-01A-11D-A377-08	TCGA-V1-A8WV-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb3d2a6b-9f91-4cc4-8f42-129e41672023	84819ecf-df76-4072-96dc-6a298f4b3b0c	g.chr5:140723618T>A	ENST00000253812.6	+	1	18	c.18T>A	c.(16-18)agT>agA	p.S6R	PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018916.3|NM_032011.1	NP_061739.2|NP_114400.1	Q9Y5H0	PCDG3_HUMAN	protocadherin gamma subfamily A, 3	6					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATTGCCTGAGTTTCCGAAATG	0.522											OREG0016855	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000253812.6																			0				breast(1)	1						c.(16-18)agT>agA									120	128	126					5																	140723618		2025	4210	6235	SO:0001583	missense	0							g.chr5:140723618T>A	AF152510	CCDS47290.1, CCDS75329.1	5q31	2010-01-26			ENSG00000254245	ENSG00000254245		"Cadherins / Protocadherins : Clustered"	8701	other	protocadherin		606290				10380929	Standard	NM_032011		Approved	PCDH-GAMMA-A3		Q9Y5H0	OTTHUMG00000163680	ENST00000253812.6:c.18T>A	5.37:g.140723618T>A	ENSP00000253812:p.Ser6Arg		OREG0016855	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1658	PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron	p.S6R	NM_018916.3|NM_032011.1	NP_061739.2|NP_114400.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	18	+								Q9Y5D4	Missense_Mutation	SNP	ENST00000253812.6	37	c.18T>A	CCDS47290.1	.	.	.	.	.	.	.	.	.	.	.	3.055	-0.194423	0.06259	.	.	ENSG00000254245	ENST00000253812	T	0.47528	0.84	5.21	-1.4	0.08968	.	.	.	.	.	T	0.08403	0.0209	N	0.00150	-1.985	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.34576	-0.9823	9	0.02654	T	1	.	2.3206	0.04209	0.3269:0.1382:0.3901:0.1448	.	6;6	Q9Y5H0-2;Q9Y5H0	.;PCDG3_HUMAN	R	6	ENSP00000253812:S6R	ENSP00000253812:S6R	S	+	3	2	PCDHGA3	140703802	0.001000	0.12720	0.000000	0.03702	0.079000	0.17450	0.746000	0.26275	-0.169000	0.10834	-1.142000	0.01873	AGT		0.522	PCDHGA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377017.1	NM_018916		33	86	0	0	0	1	0	33	86					A	140723618	T	A	140723618	3	1	378	1	0	0	0	0	1	0	0	0	11555	1722	60	5	20	5	PCDHGA3	5	140723618	Missense_Mutation	SNP	T	TCGA-V1-A8WV-01A-11D-A377-08	75401454	140723618	40191642	13	18626											
SLC26A2	1836	broad.mit.edu	37	chr5	149357907	149357907	+	Frame_Shift_Del	DEL	T	T	-																															tgtaacctttatagctggagTttatcaggtaagcagcaatg																										TCGA-V1-A8WV-01A-11D-A377-08	TCGA-V1-A8WV-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb3d2a6b-9f91-4cc4-8f42-129e41672023	84819ecf-df76-4072-96dc-6a298f4b3b0c	g.chr5:149357907delT	ENST00000286298.4	+	2	960	c.692delT	c.(691-693)gttfs	p.V231fs		NM_000112.3	NP_000103.2	P50443	S26A2_HUMAN	solute carrier family 26 (anion exchanger), member 2	231					3'-phosphoadenosine 5'-phosphosulfate biosynthetic process (GO:0050428)|3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|ion transport (GO:0006811)|ossification (GO:0001503)|small molecule metabolic process (GO:0044281)|sulfate transmembrane transport (GO:1902358)|sulfate transport (GO:0008272)|transmembrane transport (GO:0055085)|xenobiotic metabolic process (GO:0006805)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	secondary active sulfate transmembrane transporter activity (GO:0008271)|sulfate transmembrane transporter activity (GO:0015116)			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(1)|prostate(2)|stomach(1)	18			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			ATAGCTGGAGTTTATCAGGTA	0.343																																						ENST00000286298.4																			0				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(1)|prostate(2)|stomach(1)	18						c.(691-693)gtfs		solute carrier family 26 (anion exchanger), member 2				0,4262		0,0,2131	87	87	87			3.9	1	5		87	2,8252		0,2,4125	no	frameshift	SLC26A2	NM_000112.3		0,2,6256	A1A1,A1R,RR		0.0242,0.0,0.016			149357907	2,12514	2203	4300	6503	SO:0001589	frameshift_variant	1836					integral to plasma membrane|membrane fraction	secondary active sulfate transmembrane transporter activity	g.chr5:149357907delT	U14528	CCDS4300.1	5q31-q34	2014-09-17	2013-07-18		ENSG00000155850	ENSG00000155850		"Solute carriers"	10994	protein-coding gene	gene with protein product		606718	"solute carrier family 26 (sulfate transporter), member 2"	DTD		7923357	Standard	NM_000112		Approved	DTDST	uc003lrh.3	P50443	OTTHUMG00000130054	ENST00000286298.4:c.692delT	5.37:g.149357907delT	ENSP00000286298:p.Val231fs						p.V231fs	NM_000112.3	NP_000103.2	P50443	S26A2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		2	960	+			231					A8K2U3|B2R6J1|Q6N051	Frame_Shift_Del	DEL	ENST00000286298.4	37	c.692delT	CCDS4300.1																																																																																				0.343	SLC26A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252333.2	NM_000112		11	45						11	45	---	---	---	---	-	149357907	T	-	149357907	7	5	378	1	0	1	0	1	0	0	0	0	14517	1725	60	0	694	0	SLC26A2	5	149357907	Frame_Shift_Del	DEL	T	TCGA-V1-A8WV-01A-11D-A377-08	8634289	149357907	31557353	14	18627											
HCRTR2	3062	broad.mit.edu	37	chr6	55120018	55120018	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tctgtcaccctttgatgtttAagagcacagcaaagcgggcc	10	10	10	11	1	2	2	1	1	1	1	2	2	2	2	2	1	3	3	2	1	2	3			TCGA-V1-A8WV-01A-11D-A377-08	TCGA-V1-A8WV-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb3d2a6b-9f91-4cc4-8f42-129e41672023	84819ecf-df76-4072-96dc-6a298f4b3b0c	g.chr6:55120018A>G	ENST00000370862.3	+	3	823	c.487A>G	c.(487-489)Aag>Gag	p.K163E		NM_001526.3	NP_001517.2	O43614	OX2R_HUMAN	hypocretin (orexin) receptor 2	163					circadian sleep/wake cycle process (GO:0022410)|feeding behavior (GO:0007631)|neuropeptide signaling pathway (GO:0007218)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neuropeptide receptor activity (GO:0008188)|orexin receptor activity (GO:0016499)			breast(3)|endometrium(2)|kidney(1)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	46	Lung NSC(77;0.107)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			TTTGATGTTTAAGAGCACAGC	0.493																																						ENST00000370862.3																			0				breast(3)|endometrium(2)|kidney(1)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	46						c.(487-489)Aag>Gag		hypocretin (orexin) receptor 2							166	139	148					6																	55120018		2203	4300	6503	SO:0001583	missense	3062				feeding behavior	integral to plasma membrane	neuropeptide receptor activity	g.chr6:55120018A>G	AF041245	CCDS4956.1	6p12.1	2012-09-20			ENSG00000137252	ENSG00000137252		"GPCR / Class A : Hypocretin (orexin) receptors"	4849	protein-coding gene	gene with protein product		602393				9491897	Standard	NM_001526		Approved	OX2R	uc003pcl.3	O43614	OTTHUMG00000016150	ENST00000370862.3:c.487A>G	6.37:g.55120018A>G	ENSP00000359899:p.Lys163Glu						p.K163E	NM_001526.3	NP_001517.2	O43614	OX2R_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.23)		3	823	+	Lung NSC(77;0.107)|Renal(3;0.122)		163					Q5VTM0	Missense_Mutation	SNP	ENST00000370862.3	37	c.487A>G	CCDS4956.1	.	.	.	.	.	.	.	.	.	.	A	29.2	4.984364	0.93044	.	.	ENSG00000137252	ENST00000370862	T	0.19669	2.13	5.05	5.05	0.67936	GPCR, rhodopsin-like superfamily (1);	0.094715	0.64402	D	0.000001	T	0.42449	0.1203	M	0.84511	2.7	0.80722	D	1	D;D	0.76494	0.997;0.999	D;D	0.79108	0.978;0.992	T	0.52586	-0.8556	10	0.87932	D	0	.	14.7876	0.69816	1.0:0.0:0.0:0.0	.	163;163	Q548Y0;O43614	.;OX2R_HUMAN	E	163	ENSP00000359899:K163E	ENSP00000359899:K163E	K	+	1	0	HCRTR2	55227977	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.962000	0.93254	1.900000	0.55004	0.397000	0.26171	AAG		0.493	HCRTR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043392.1			9	51	0	0	0	1	0	9	51					G	55120018	A	G	55120018	3	3	378	1	0	0	0	0	1	0	0	0	7002	363	13	4	497	4	HCRTR2	6	55120018	Missense_Mutation	SNP	A	TCGA-V1-A8WV-01A-11D-A377-08		55120018	115995049	15	18628											
AMD1	262	broad.mit.edu	37	chr6	111210071	111210071	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caactgcagtgagagtagcaTgtttgtctccaagagacgtt	11	11	11	8	1	1	2	0	1	1	2	2	4	1	2	1	0	3	5	1	0	3	3			TCGA-V1-A8WV-01A-11D-A377-08	TCGA-V1-A8WV-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb3d2a6b-9f91-4cc4-8f42-129e41672023	84819ecf-df76-4072-96dc-6a298f4b3b0c	g.chr6:111210071T>G	ENST00000368885.3	+	3	545	c.209T>G	c.(208-210)aTg>aGg	p.M70R	AMD1_ENST00000451850.2_Intron|AMD1_ENST00000368876.1_Start_Codon_SNP_p.M1R|AMD1_ENST00000368882.3_Intron|AMD1_ENST00000368877.5_Missense_Mutation_p.M41R	NM_001634.4	NP_001625.2	P17707	DCAM_HUMAN	adenosylmethionine decarboxylase 1	70					cellular nitrogen compound metabolic process (GO:0034641)|polyamine metabolic process (GO:0006595)|S-adenosylmethioninamine biosynthetic process (GO:0006557)|small molecule metabolic process (GO:0044281)|spermidine biosynthetic process (GO:0008295)|spermine biosynthetic process (GO:0006597)	cytosol (GO:0005829)	adenosylmethionine decarboxylase activity (GO:0004014)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(2)	8		all_cancers(87;3.83e-05)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.00225)|Colorectal(196;0.0209)		OV - Ovarian serous cystadenocarcinoma(136;0.0522)|Epithelial(106;0.111)|all cancers(137;0.143)	S-Adenosylmethionine(DB00118)	GAGAGTAGCATGTTTGTCTCC	0.388																																						ENST00000368885.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(2)	8						c.(208-210)aTg>aGg		adenosylmethionine decarboxylase 1	S-Adenosylmethionine(DB00118)						92	89	90					6																	111210071		2203	4300	6503	SO:0001583	missense	262				spermidine biosynthetic process|spermine biosynthetic process	cytosol	adenosylmethionine decarboxylase activity	g.chr6:111210071T>G	M88006	CCDS5086.1, CCDS75504.1, CCDS75505.1	6q21	2014-05-13			ENSG00000123505	ENSG00000123505	4.1.1.50		457	protein-coding gene	gene with protein product		180980	"S-adenosylmethionine decarboxylase 1"				Standard	NM_001634		Approved	SAMDC	uc003puk.1	P17707	OTTHUMG00000015369	ENST00000368885.3:c.209T>G	6.37:g.111210071T>G	ENSP00000357880:p.Met70Arg					AMD1_ENST00000451850.2_Intron|AMD1_ENST00000368877.5_Missense_Mutation_p.M41R|AMD1_ENST00000368882.3_Intron|AMD1_ENST00000368876.1_Start_Codon_SNP_p.M1R	p.M70R	NM_001634.4	NP_001625.2	P17707	DCAM_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.0522)|Epithelial(106;0.111)|all cancers(137;0.143)	3	545	+		all_cancers(87;3.83e-05)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.00225)|Colorectal(196;0.0209)	70					E1P5F7|Q5VXN4|Q5VXN6|Q9BWK4	Missense_Mutation	SNP	ENST00000368885.3	37	c.209T>G	CCDS5086.1	.	.	.	.	.	.	.	.	.	.	T	22.8	4.335333	0.81801	.	.	ENSG00000123505	ENST00000368885;ENST00000368877;ENST00000368876	.	.	.	5.55	5.55	0.83447	S-adenosylmethionine decarboxylase, core (2);S-adenosylmethionine decarboxylase, conserved site (1);	0.072279	0.85682	D	0.000000	T	0.81692	0.4876	M	0.88241	2.94	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.81914	0.995;0.982	D	0.85897	0.1432	9	0.87932	D	0	.	15.6973	0.77509	0.0:0.0:0.0:1.0	.	41;70	A6NNH3;P17707	.;DCAM_HUMAN	R	70;41;1	.	ENSP00000357870:M1R	M	+	2	0	AMD1	111316764	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.608000	0.82898	2.110000	0.64415	0.482000	0.46254	ATG		0.388	AMD1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041816.1			18	57	0	0	0	1	0	18	57					G	111210071	T	G	111210071	3	3	378	1	0	0	0	0	1	0	0	0	566	1464	51	5	219	5	AMD1	6	111210071	Missense_Mutation	SNP	T	TCGA-V1-A8WV-01A-11D-A377-08	56090053	111210071	59904996	16	18629											
SHPRH	257218	broad.mit.edu	37	chr6	146242326	146242326	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atattccttcttccatgcttCaaagagatccattgaagtgc	11	14	6	10	0	2	2	1	1	1	1	5	3	5	2	3	0	2	1	3	0	3	6			TCGA-V1-A8WV-01A-11D-A377-08	TCGA-V1-A8WV-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb3d2a6b-9f91-4cc4-8f42-129e41672023	84819ecf-df76-4072-96dc-6a298f4b3b0c	g.chr6:146242326C>T	ENST00000367505.2	-	21	4249	c.3985G>A	c.(3985-3987)Gaa>Aaa	p.E1329K	SHPRH_ENST00000438092.2_Missense_Mutation_p.E1333K|SHPRH_ENST00000275233.7_Missense_Mutation_p.E1329K|SHPRH_ENST00000367503.3_Missense_Mutation_p.E1333K			Q149N8	SHPRH_HUMAN	SNF2 histone linker PHD RING helicase, E3 ubiquitin protein ligase	1329					DNA repair (GO:0006281)|nucleosome assembly (GO:0006334)|protein polyubiquitination (GO:0000209)	nucleosome (GO:0000786)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(33)|ovary(3)|pancreas(2)|prostate(7)|skin(1)|urinary_tract(1)	79		Ovarian(120;0.0365)		OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124)		TTCCATGCTTCAAAGAGATCC	0.303																																						ENST00000367503.3																			0				breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(33)|ovary(3)|pancreas(2)|prostate(7)|skin(1)|urinary_tract(1)	79						c.(3997-3999)Gaa>Aaa		SNF2 histone linker PHD RING helicase, E3 ubiquitin protein ligase							104	91	95					6																	146242326		1823	4082	5905	SO:0001583	missense	257218				DNA repair|nucleosome assembly	nucleosome|nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding	g.chr6:146242326C>T	AB095943	CCDS43513.1, CCDS47496.1, CCDS43513.2	6q24.2	2012-02-23	2012-02-23		ENSG00000146414	ENSG00000146414		"RING-type (C3HC4) zinc fingers"	19336	protein-coding gene	gene with protein product		608048	"SNF2 histone linker PHD RING helicase"			12837266	Standard	NM_001042683		Approved	FLJ90837, KIAA2023, bA545I5.2	uc003qlf.3	Q149N8	OTTHUMG00000015750	ENST00000367505.2:c.3985G>A	6.37:g.146242326C>T	ENSP00000356475:p.Glu1329Lys					SHPRH_ENST00000275233.7_Missense_Mutation_p.E1329K|SHPRH_ENST00000367505.2_Missense_Mutation_p.E1329K|SHPRH_ENST00000438092.2_Missense_Mutation_p.E1333K	p.E1333K	NM_001042683.2	NP_001036148.2	Q149N8	SHPRH_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124)	21	4395	-		Ovarian(120;0.0365)	1329					Q149N9|Q5VV79|Q68DS5|Q7Z5J5|Q8IVE8|Q8IWQ9|Q8N1S8|Q8NBR7	Missense_Mutation	SNP	ENST00000367505.2	37	c.3997G>A	CCDS43513.2	.	.	.	.	.	.	.	.	.	.	C	36	5.763089	0.96906	.	.	ENSG00000146414	ENST00000367505;ENST00000367503;ENST00000438092;ENST00000275233	T;T;T;T	0.77620	-1.09;-1.1;-1.11;-1.09	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	T	0.81721	0.4882	L	0.55481	1.735	0.80722	D	1	P;D;D	0.63046	0.595;0.986;0.992	B;P;P	0.60415	0.192;0.751;0.874	T	0.78907	-0.2019	10	0.39692	T	0.17	-26.7871	20.1099	0.97909	0.0:1.0:0.0:0.0	.	528;1329;1333	B3KX98;Q149N8;Q149N8-4	.;SHPRH_HUMAN;.	K	1329;1333;1333;1329	ENSP00000356475:E1329K;ENSP00000356473:E1333K;ENSP00000412797:E1333K;ENSP00000275233:E1329K	ENSP00000275233:E1329K	E	-	1	0	SHPRH	146284019	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.818000	0.86416	2.753000	0.94483	0.585000	0.79938	GAA		0.303	SHPRH-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000042571.2	NM_173082		4	17	0	0	0	1	0	4	17					T	146242326	C	T	146242326	3	4	378	1	0	0	0	0	1	0	0	0	14291	835	29	3	1123	3	SHPRH	6	146242326	Missense_Mutation	SNP	C	TCGA-V1-A8WV-01A-11D-A377-08	35032255	146242326	24872741	17	18630											
POM121L12	285877	broad.mit.edu	37	chr7	53103908	53103908	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggagactctgctgggggcgCtcagccagtgccccaaggga	7	5	17	12	1	2	1	1	0	1	1	2	3	2	2	3	4	3	2	3	4	1	0			TCGA-V1-A8WV-01A-11D-A377-08	TCGA-V1-A8WV-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb3d2a6b-9f91-4cc4-8f42-129e41672023	84819ecf-df76-4072-96dc-6a298f4b3b0c	g.chr7:53103908C>A	ENST00000408890.4	+	1	560	c.544C>A	c.(544-546)Ctc>Atc	p.L182I		NM_182595.3	NP_872401.3	Q8N7R1	P1L12_HUMAN	POM121 transmembrane nucleoporin-like 12	182										endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						GCTGGGGGCGCTCAGCCAGTG	0.721																																						ENST00000408890.4																			0				endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						c.(544-546)Ctc>Atc		POM121 transmembrane nucleoporin-like 12							29	34	33					7																	53103908		1908	4115	6023	SO:0001583	missense	285877							g.chr7:53103908C>A		CCDS43584.1	7p12.1	2012-03-13	2012-03-13		ENSG00000221900	ENSG00000221900			25369	protein-coding gene	gene with protein product			"POM121 membrane glycoprotein-like 12"				Standard	NM_182595		Approved	DKFZp564N2472	uc003tpz.3	Q8N7R1	OTTHUMG00000155995	ENST00000408890.4:c.544C>A	7.37:g.53103908C>A	ENSP00000386133:p.Leu182Ile						p.L182I	NM_182595.3	NP_872401.3	Q8N7R1	P1L12_HUMAN			1	560	+			182					Q8NDI9	Missense_Mutation	SNP	ENST00000408890.4	37	c.544C>A	CCDS43584.1	.	.	.	.	.	.	.	.	.	.	C	13.31	2.199225	0.38806	.	.	ENSG00000221900	ENST00000408890	T	0.54071	0.59	2.21	1.32	0.21799	.	.	.	.	.	T	0.61702	0.2368	L	0.54323	1.7	0.09310	N	1	D	0.71674	0.998	D	0.80764	0.994	T	0.47394	-0.9121	9	0.87932	D	0	.	4.8079	0.13329	0.0:0.8192:0.0:0.1808	.	182	Q8N7R1	P1L12_HUMAN	I	182	ENSP00000386133:L182I	ENSP00000386133:L182I	L	+	1	0	POM121L12	53071402	0.000000	0.05858	0.002000	0.10522	0.001000	0.01503	-0.117000	0.10708	0.500000	0.27991	0.561000	0.74099	CTC		0.721	POM121L12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342656.1	NM_182595		9	23	1	0	9.70103e-10	1	1.00603e-09	9	23					A	53103908	C	A	53103908	3	1	378	1	0	0	0	0	1	0	0	0	12241	797	28	5	546	5	POM121L12	7	53103908	Missense_Mutation	SNP	C	TCGA-V1-A8WV-01A-11D-A377-08		53103908	106034755	18	18631											
MAGI2	9863	broad.mit.edu	37	chr7	79082369	79082369	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgagccggagggggtcctTgcagtgtttgatcacggcca	6	10	15	10	2	1	2	1	2	0	0	2	3	2	3	3	4	2	2	3	4	0	3			TCGA-V1-A8WV-01A-11D-A377-08	TCGA-V1-A8WV-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb3d2a6b-9f91-4cc4-8f42-129e41672023	84819ecf-df76-4072-96dc-6a298f4b3b0c	g.chr7:79082369T>C	ENST00000354212.4	-	1	521	c.268A>G	c.(268-270)Aag>Gag	p.K90E	MAGI2-AS3_ENST00000451809.1_RNA|MAGI2_ENST00000522391.1_Missense_Mutation_p.K90E|MAGI2-AS3_ENST00000424477.1_RNA|MAGI2-AS3_ENST00000429408.1_RNA|MAGI2-AS3_ENST00000422093.1_RNA|MAGI2_ENST00000419488.1_Missense_Mutation_p.K90E|MAGI2-AS3_ENST00000448195.1_RNA|MAGI2-AS3_ENST00000426835.1_RNA|MAGI2-AS3_ENST00000414797.1_RNA|MAGI2-AS3_ENST00000446159.1_RNA	NM_012301.3	NP_036433.2	Q86UL8	MAGI2_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 2	90	PDZ 1. {ECO:0000255|PROSITE- ProRule:PRU00143}.				cellular response to nerve growth factor stimulus (GO:1990090)|cytoplasmic transport (GO:0016482)|glomerular visceral epithelial cell development (GO:0072015)|mitotic cell cycle arrest (GO:0071850)|negative regulation of activin receptor signaling pathway (GO:0032926)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein kinase B signaling (GO:0051898)|nerve growth factor signaling pathway (GO:0038180)|planar cell polarity pathway involved in axis elongation (GO:0003402)|positive regulation of neuron projection development (GO:0010976)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of receptor internalization (GO:0002092)|protein heterooligomerization (GO:0051291)|receptor clustering (GO:0043113)|SMAD protein signal transduction (GO:0060395)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|late endosome (GO:0005770)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|protein complex (GO:0043234)|slit diaphragm (GO:0036057)|synapse (GO:0045202)|tight junction (GO:0005923)	beta-1 adrenergic receptor binding (GO:0031697)|phosphatase binding (GO:0019902)|receptor signaling complex scaffold activity (GO:0030159)|signal transducer activity (GO:0004871)|SMAD binding (GO:0046332)|type II activin receptor binding (GO:0070699)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				AGGGGGTCCTTGCAGTGTTTG	0.637																																						ENST00000354212.4																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84						c.(268-270)Aag>Gag		membrane associated guanylate kinase, WW and PDZ domain containing 2							50	54	52					7																	79082369		2203	4300	6503	SO:0001583	missense	9863					cell junction|synapse|synaptosome	phosphatase binding	g.chr7:79082369T>C	AB014605	CCDS5594.1, CCDS75623.1	7q21	2005-08-09			ENSG00000187391	ENSG00000187391			18957	protein-coding gene	gene with protein product		606382				10681527, 9734811	Standard	XM_005250725		Approved	AIP1, ARIP1, KIAA0705, ACVRIP1, MAGI-2	uc003ugx.3	Q86UL8	OTTHUMG00000130697	ENST00000354212.4:c.268A>G	7.37:g.79082369T>C	ENSP00000346151:p.Lys90Glu					MAGI2-AS3_ENST00000429408.1_RNA|MAGI2_ENST00000419488.1_Missense_Mutation_p.K90E|MAGI2_ENST00000522391.1_Missense_Mutation_p.K90E	p.K90E	NM_012301.3	NP_036433.2	Q86UL8	MAGI2_HUMAN			1	521	-		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)	90			PDZ 1.		A4D1C1|A7E2C3|O60434|O60510|Q86UI7|Q9NP44|Q9UDQ5|Q9UDU1	Missense_Mutation	SNP	ENST00000354212.4	37	c.268A>G	CCDS5594.1	.	.	.	.	.	.	.	.	.	.	T	26.2	4.711102	0.89112	.	.	ENSG00000187391	ENST00000419488;ENST00000354212;ENST00000536298;ENST00000522391	T;T;T	0.30182	1.54;1.54;1.54	5.39	5.39	0.77823	PDZ/DHR/GLGF (4);	.	.	.	.	T	0.46483	0.1395	L	0.56199	1.76	0.80722	D	1	D;P	0.63046	0.992;0.928	P;B	0.58780	0.845;0.371	T	0.46289	-0.9202	9	0.72032	D	0.01	.	14.5672	0.68185	0.0:0.0:0.0:1.0	.	90;90	Q86UL8-2;Q86UL8	.;MAGI2_HUMAN	E	90	ENSP00000405766:K90E;ENSP00000346151:K90E;ENSP00000428389:K90E	ENSP00000346151:K90E	K	-	1	0	MAGI2	78920305	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.138000	0.71717	2.033000	0.60031	0.402000	0.26972	AAG		0.637	MAGI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253197.3	NM_012301		9	49	0	0	0	1	0	9	49					C	79082369	T	C	79082369	3	2	378	1	0	0	0	0	1	0	0	0	9191	1821	63	4	4187	4	MAGI2	7	79082369	Missense_Mutation	SNP	T	TCGA-V1-A8WV-01A-11D-A377-08	25978461	79082369	80056294	19	18632											
PCM1	5108	broad.mit.edu	37	chr8	17817936	17817936	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	aaattcaagcattgcaaacgGcatgccctgacttacaggta	14	9	8	10	1	1	1	1	1	0	0	1	1	1	1	1	2	5	4	1	2	5	4			TCGA-V1-A8WV-01A-11D-A377-08	TCGA-V1-A8WV-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb3d2a6b-9f91-4cc4-8f42-129e41672023	84819ecf-df76-4072-96dc-6a298f4b3b0c	g.chr8:17817936G>A	ENST00000519253.1	+	15	2556	c.2305G>A	c.(2305-2307)Gca>Aca	p.A769T	PCM1_ENST00000524226.1_Missense_Mutation_p.A770T|PCM1_ENST00000325083.8_Missense_Mutation_p.A769T			Q15154	PCM1_HUMAN	pericentriolar material 1	769					centrosome organization (GO:0051297)|cilium assembly (GO:0042384)|cytoplasmic microtubule organization (GO:0031122)|G2/M transition of mitotic cell cycle (GO:0000086)|interkinetic nuclear migration (GO:0022027)|intraciliary transport involved in cilium morphogenesis (GO:0035735)|microtubule anchoring (GO:0034453)|microtubule anchoring at centrosome (GO:0034454)|mitotic cell cycle (GO:0000278)|negative regulation of neurogenesis (GO:0050768)|neuronal stem cell maintenance (GO:0097150)|positive regulation of intracellular protein transport (GO:0090316)|protein localization to centrosome (GO:0071539)	centriolar satellite (GO:0034451)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nuclear membrane (GO:0031965)|pericentriolar material (GO:0000242)|protein complex (GO:0043234)	identical protein binding (GO:0042802)		PCM1/JAK2(30)	breast(4)|endometrium(8)|kidney(5)|large_intestine(16)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	48				Colorectal(111;0.0789)		ATTGCAAACGGCATGCCCTGA	0.343			T	"RET, JAK2"	"papillary thyroid, CML, MPD"																																	ENST00000325083.8				Dom	yes		8	8p22-p21.3	5108	T	pericentriolar material 1  (PTC4)			"E, L"	"RET, JAK2"		"papillary thyroid, CML, MPD"	PCM1/JAK2(30)	0				breast(4)|endometrium(8)|kidney(5)|large_intestine(16)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	48						c.(2305-2307)Gca>Aca		pericentriolar material 1							60	60	60					8																	17817936		1835	4080	5915	SO:0001583	missense	5108				centrosome organization|cilium assembly|G2/M transition of mitotic cell cycle|interkinetic nuclear migration|microtubule anchoring|negative regulation of neurogenesis|protein localization to centrosome	centriolar satellite|cytosol|nuclear membrane|pericentriolar material	identical protein binding	g.chr8:17817936G>A		CCDS47812.1	8p22-p21.3	2008-08-08			ENSG00000078674	ENSG00000078674			8727	protein-coding gene	gene with protein product		600299				8120099, 15659651	Standard	NM_006197		Approved	PTC4	uc003wyi.4	Q15154	OTTHUMG00000163699	ENST00000519253.1:c.2305G>A	8.37:g.17817936G>A	ENSP00000431099:p.Ala769Thr					PCM1_ENST00000519253.1_Missense_Mutation_p.A769T|PCM1_ENST00000524226.1_Missense_Mutation_p.A770T	p.A769T	NM_006197.3	NP_006188.3	Q15154	PCM1_HUMAN		Colorectal(111;0.0789)	15	2744	+			769					Q58F13|Q6P1K7|Q8NB85|Q9BWC1|Q9H4A2	Missense_Mutation	SNP	ENST00000519253.1	37	c.2305G>A		.	.	.	.	.	.	.	.	.	.	G	27.6	4.843370	0.91197	.	.	ENSG00000078674	ENST00000325083;ENST00000519253;ENST00000524226	T;T;T	0.29397	3.37;1.57;1.57	4.85	4.85	0.62838	.	0.047991	0.85682	D	0.000000	T	0.50854	0.1640	M	0.61703	1.905	0.80722	D	1	D;D;D	0.67145	0.996;0.992;0.996	P;P;P	0.60609	0.877;0.856;0.877	T	0.48768	-0.9006	10	0.46703	T	0.11	-15.8644	18.8588	0.92264	0.0:0.0:1.0:0.0	.	769;770;769	E7ETA6;E7EV56;Q15154	.;.;PCM1_HUMAN	T	769;769;770	ENSP00000327077:A769T;ENSP00000431099:A769T;ENSP00000430521:A770T	ENSP00000327077:A769T	A	+	1	0	PCM1	17862216	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	8.773000	0.91762	2.608000	0.88229	0.650000	0.86243	GCA		0.343	PCM1-003	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000374800.1	NM_006197		3	27	0	0	0	1	0	3	27					A	17817936	G	A	17817936	3	1	378	1	0	0	0	0	1	0	0	0	11584	1203	42	3	2355	3	PCM1	8	17817936	Missense_Mutation	SNP	G	TCGA-V1-A8WV-01A-11D-A377-08		17817936	128546086	20	18633											
CSMD3	114788	broad.mit.edu	37	chr8	113267582	113267582	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	aaaattgcagctgaatgaaaCctctgactggtatataaagc	16	10	8	7	0	1	3	0	3	1	0	1	3	1	3	1	1	4	3	1	1	8	4			TCGA-V1-A8WV-01A-11D-A377-08	TCGA-V1-A8WV-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb3d2a6b-9f91-4cc4-8f42-129e41672023	84819ecf-df76-4072-96dc-6a298f4b3b0c	g.chr8:113267582C>A	ENST00000297405.5	-	62	10181	c.9937G>T	c.(9937-9939)Gtt>Ttt	p.V3313F	CSMD3_ENST00000455883.2_Missense_Mutation_p.V3144F|CSMD3_ENST00000343508.3_Missense_Mutation_p.V3273F|CSMD3_ENST00000352409.3_Missense_Mutation_p.V3243F	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3313	Sushi 26. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						CTGAATGAAACCTCTGACTGG	0.423										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												ENST00000297405.5																			0				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						c.(9937-9939)Gtt>Ttt		CUB and Sushi multiple domains 3							136	122	127					8																	113267582		2203	4300	6503	SO:0001583	missense	114788					integral to membrane|plasma membrane		g.chr8:113267582C>A	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.9937G>T	8.37:g.113267582C>A	ENSP00000297405:p.Val3313Phe	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_ENST00000455883.2_Missense_Mutation_p.V3144F|CSMD3_ENST00000352409.3_Missense_Mutation_p.V3243F|CSMD3_ENST00000343508.3_Missense_Mutation_p.V3273F	p.V3313F	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN			62	10181	-			3313			Sushi 26.		Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	c.9937G>T	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	c	17.20	3.330019	0.60743	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.70986	-0.53;-0.53;-0.53;-0.53;-0.53	5.19	4.32	0.51571	Complement control module (2);Sushi/SCR/CCP (3);	0.086699	0.46145	D	0.000309	D	0.86669	0.5988	M	0.91300	3.195	0.43632	D	0.996024	D;P;P	0.89917	1.0;0.934;0.587	D;P;B	0.91635	0.999;0.794;0.188	D	0.89751	0.3940	10	0.87932	D	0	.	14.1557	0.65417	0.0:0.9284:0.0:0.0716	.	3144;3313;3273	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	F	3273;3313;2583;3144;3243	ENSP00000345799:V3273F;ENSP00000297405:V3313F;ENSP00000341558:V2583F;ENSP00000412263:V3144F;ENSP00000343124:V3243F	ENSP00000297405:V3313F	V	-	1	0	CSMD3	113336758	1.000000	0.71417	1.000000	0.80357	0.370000	0.29829	4.779000	0.62375	1.442000	0.47568	-0.127000	0.14921	GTT		0.423	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		33	36	1	0	2.2171e-23	1	2.38765e-23	33	36					A	113267582	C	A	113267582	3	1	378	1	0	0	0	0	1	0	0	0	3946	507	18	5	1226	5	CSMD3	8	113267582	Missense_Mutation	SNP	C	TCGA-V1-A8WV-01A-11D-A377-08	95449646	113267582	33096440	21	18634											
DSCC1	79075	broad.mit.edu	37	chr8	120865380	120865380	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcaacatattggaagtgtcTgctatcttcaagtcgtatgt	11	14	9	7	1	3	0	1	0	2	0	4	1	3	1	0	1	3	3	0	1	6	5			TCGA-V1-A8WV-01A-11D-A377-08	TCGA-V1-A8WV-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb3d2a6b-9f91-4cc4-8f42-129e41672023	84819ecf-df76-4072-96dc-6a298f4b3b0c	g.chr8:120865380T>C	ENST00000313655.4	-	2	472	c.258A>G	c.(256-258)gcA>gcG	p.A86A		NM_024094.2	NP_076999.2	Q9BVC3	DCC1_HUMAN	DNA replication and sister chromatid cohesion 1	86					DNA replication (GO:0006260)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|post-translational protein acetylation (GO:0034421)|regulation of DNA replication (GO:0006275)	chromatin (GO:0000785)|chromosome, centromeric region (GO:0000775)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)			NS(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(1)|pancreas(1)	9	Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			TGGAAGTGTCTGCTATCTTCA	0.408																																						ENST00000313655.4																			0				NS(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(1)|pancreas(1)	9						c.(256-258)gcA>gcG		DNA replication and sister chromatid cohesion 1							177	157	164					8																	120865380		2203	4300	6503	SO:0001819	synonymous_variant	79075				DNA replication|maintenance of mitotic sister chromatid cohesion|post-translational protein acetylation|regulation of DNA replication	chromatin|chromosome, centromeric region|nucleoplasm	DNA binding|protein binding	g.chr8:120865380T>C		CCDS6330.1	8q24.12	2013-05-24	2013-05-24		ENSG00000136982	ENSG00000136982			24453	protein-coding gene	gene with protein product	"defective in sister chromatid cohesion homolog 1 (S. cerevisiae)"	613203	"defective in sister chromatid cohesion 1 homolog (S. cerevisiae)"			12766176, 20826785	Standard	NM_024094		Approved	DCC1, hDCC1, MGC5528	uc003yov.3	Q9BVC3	OTTHUMG00000165010	ENST00000313655.4:c.258A>G	8.37:g.120865380T>C							p.A86A	NM_024094.2	NP_076999.2	Q9BVC3	DCC1_HUMAN	STAD - Stomach adenocarcinoma(47;0.00185)		2	472	-	Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161)		86					Q969N5	Silent	SNP	ENST00000313655.4	37	c.258A>G	CCDS6330.1																																																																																				0.408	DSCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381443.1	NM_024094		13	92	0	0	0	1	0	13	92					C	120865380	T	C	120865380	2	2	378	1	0	0	0	0	0	0	0	1	4770	1567	55	4		4	DSCC1	8	120865380	Silent	SNP	T	TCGA-V1-A8WV-01A-11D-A377-08	7597798	120865380	25498642	22	18635											
GPR107	57720	broad.mit.edu	37	chr9	132853235	132853235	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgccttggaaaagaattgccAagtgacaagtttacattcag	14	11	9	7	0	1	2	1	1	0	1	1	3	1	3	2	1	3	1	2	1	6	5			TCGA-V1-A8WV-01A-11D-A377-08	TCGA-V1-A8WV-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb3d2a6b-9f91-4cc4-8f42-129e41672023	84819ecf-df76-4072-96dc-6a298f4b3b0c	g.chr9:132853235A>C	ENST00000372406.1	+	8	1209	c.702A>C	c.(700-702)ccA>ccC	p.P234P	GPR107_ENST00000372410.3_Silent_p.P234P|GPR107_ENST00000347136.6_Silent_p.P234P	NM_001136557.1	NP_001130029.1	Q5VW38	GP107_HUMAN	G protein-coupled receptor 107	234						integral component of membrane (GO:0016021)				endometrium(2)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	11		Ovarian(14;0.000531)				AAGAATTGCCAAGTGACAAGT	0.358																																						ENST00000372406.1																			0				endometrium(2)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	11						c.(700-702)ccA>ccC		G protein-coupled receptor 107							97	80	86					9																	132853235		2202	4300	6502	SO:0001819	synonymous_variant	0					integral to membrane		g.chr9:132853235A>C	AF376725	CCDS35162.1, CCDS48041.1, CCDS48042.1	9q34.2	2014-01-30			ENSG00000148358	ENSG00000148358		"GPCR / Unclassified : 7TM orphan receptors"	17830	protein-coding gene	gene with protein product							Standard	NM_020960		Approved	KIAA1624, RP11-88G17, FLJ20998, LUSTR1	uc004bzd.2	Q5VW38	OTTHUMG00000020804	ENST00000372406.1:c.702A>C	9.37:g.132853235A>C						GPR107_ENST00000347136.6_Silent_p.P234P|GPR107_ENST00000372410.3_Silent_p.P234P	p.P234P	NM_001136557.1	NP_001130029.1	Q5VW38	GP107_HUMAN			8	1209	+		Ovarian(14;0.000531)	234					A6NJ53|Q2TB81|Q5JPA3|Q5VW39|Q96T26|Q9H658|Q9HCE8	Silent	SNP	ENST00000372406.1	37	c.702A>C	CCDS48041.1																																																																																				0.358	GPR107-003	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054643.2			7	30	0	0	0	1	0	7	30					C	132853235	A	C	132853235	2	2	378	1	0	0	0	0	0	0	0	1	6623	117	5	5		5	GPR107	9	132853235	Silent	SNP	A	TCGA-V1-A8WV-01A-11D-A377-08		132853235	8360196	23	18636											
C9orf139	401563	broad.mit.edu	37	chr9	139929144	139929144	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaaggaggctgtcctgccaCgcctgcgggtgacccggcct	5	6	16	14	3	0	1	0	1	0	0	1	3	1	3	5	5	2	1	5	5	1	0	rs535490102		TCGA-V1-A8WV-01A-11D-A377-08	TCGA-V1-A8WV-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb3d2a6b-9f91-4cc4-8f42-129e41672023	84819ecf-df76-4072-96dc-6a298f4b3b0c	g.chr9:139929144C>A	ENST00000314330.2	+	3	1725	c.211C>A	c.(211-213)Cgc>Agc	p.R71S	FUT7_ENST00000314412.6_5'Flank|RP11-229P13.20_ENST00000457302.2_lincRNA	NM_207511.1	NP_997394.1	Q6ZV77	CI139_HUMAN	chromosome 9 open reading frame 139	71										cervix(1)|lung(2)	3	all_cancers(76;0.0893)	Myeloproliferative disorder(178;0.0821)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.99e-05)|Epithelial(140;0.000493)		TGTCCTGCCACGCCTGCGGGT	0.657																																						ENST00000314330.2																			0				cervix(1)|lung(2)	3						c.(211-213)Cgc>Agc		chromosome 9 open reading frame 139							42	50	47					9																	139929144		2201	4287	6488	SO:0001583	missense	401563							g.chr9:139929144C>A		CCDS7023.1	9q34.3	2008-02-05			ENSG00000180539	ENSG00000180539			31426	protein-coding gene	gene with protein product							Standard	NM_207511		Approved	FLJ36268, FLJ42909	uc004ckp.1	Q6ZV77	OTTHUMG00000020959	ENST00000314330.2:c.211C>A	9.37:g.139929144C>A	ENSP00000318119:p.Arg71Ser						p.R71S	NM_207511.1	NP_997394.1	Q6ZV77	CI139_HUMAN	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.99e-05)|Epithelial(140;0.000493)	3	1725	+	all_cancers(76;0.0893)	Myeloproliferative disorder(178;0.0821)	71					A2RUA3|B9EGW2|Q5SPY0|Q8N224	Missense_Mutation	SNP	ENST00000314330.2	37	c.211C>A	CCDS7023.1	.	.	.	.	.	.	.	.	.	.	c	4.262	0.047705	0.08243	.	.	ENSG00000180539	ENST00000314330	T	0.55588	0.51	1.68	0.75	0.18387	.	.	.	.	.	T	0.25195	0.0612	N	0.08118	0	0.09310	N	1	B	0.33413	0.411	B	0.28305	0.088	T	0.11470	-1.0586	9	0.37606	T	0.19	.	4.0241	0.09678	0.0:0.7739:0.0:0.2261	.	71	Q6ZV77	CI139_HUMAN	S	71	ENSP00000318119:R71S	ENSP00000318119:R71S	R	+	1	0	C9orf139	139048965	0.000000	0.05858	0.000000	0.03702	0.020000	0.10135	0.354000	0.20146	0.271000	0.22005	0.290000	0.19541	CGC		0.657	C9orf139-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055213.2	NM_207511		21	67	1	0	4.26978e-12	1	4.51146e-12	21	67					A	139929144	C	A	139929144	3	1	378	1	0	0	0	0	1	0	0	0	2459	536	19	5	217	5	C9orf139	9	139929144	Missense_Mutation	SNP	C	TCGA-V1-A8WV-01A-11D-A377-08	7075909	139929144	1284287	24	18637											
NEBL	10529	broad.mit.edu	37	chr10	21169734	21169734	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cttccttacattactctggtGtttattgacctccatggcat	7	17	6	11	0	1	1	0	1	1	0	3	1	3	1	3	2	2	2	3	2	3	6			TCGA-V1-A8WV-01A-11D-A377-08	TCGA-V1-A8WV-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb3d2a6b-9f91-4cc4-8f42-129e41672023	84819ecf-df76-4072-96dc-6a298f4b3b0c	g.chr10:21169734G>A	ENST00000377122.4	-	5	865	c.469C>T	c.(469-471)Cac>Tac	p.H157Y	NEBL_ENST00000377159.4_Intron|NEBL_ENST00000377119.1_Missense_Mutation_p.H157Y|NEBL_ENST00000417816.2_Intron	NM_006393.2	NP_006384.1	O76041	NEBL_HUMAN	nebulette	157					cardiac muscle thin filament assembly (GO:0071691)	extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|cytoskeletal protein binding (GO:0008092)|filamin binding (GO:0031005)|structural constituent of muscle (GO:0008307)|tropomyosin binding (GO:0005523)			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						TTACTCTGGTGTTTATTGACC	0.403																																						ENST00000377122.4																			0				NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						c.(469-471)Cac>Tac		nebulette							132	133	133					10																	21169734		2203	4300	6503	SO:0001583	missense	10529				regulation of actin filament length		actin binding|structural constituent of muscle	g.chr10:21169734G>A	Y16241	CCDS7133.1, CCDS7134.1	10p12	2014-09-17			ENSG00000078114	ENSG00000078114			16932	protein-coding gene	gene with protein product		605491				9733644, 10470015	Standard	NM_213569		Approved		uc001iqi.3	O76041	OTTHUMG00000017788	ENST00000377122.4:c.469C>T	10.37:g.21169734G>A	ENSP00000366326:p.His157Tyr					NEBL_ENST00000377119.1_Missense_Mutation_p.H157Y|NEBL_ENST00000377159.4_Intron|NEBL_ENST00000417816.2_Intron	p.H157Y	NM_006393.2	NP_006384.1	O76041	NEBL_HUMAN			5	865	-			157					B0YJ45|Q2TBD0|Q70I54|Q9UIC4	Missense_Mutation	SNP	ENST00000377122.4	37	c.469C>T	CCDS7134.1	.	.	.	.	.	.	.	.	.	.	G	13.36	2.214098	0.39102	.	.	ENSG00000078114	ENST00000377122;ENST00000377119	T;T	0.16196	3.56;2.36	5.8	2.98	0.34508	.	0.331465	0.33515	N	0.004826	T	0.09774	0.0240	L	0.38838	1.175	0.80722	D	1	B	0.10296	0.003	B	0.09377	0.004	T	0.22487	-1.0215	10	0.02654	T	1	.	6.3427	0.21332	0.2651:0.0:0.6155:0.1194	.	157	O76041	NEBL_HUMAN	Y	157	ENSP00000366326:H157Y;ENSP00000366323:H157Y	ENSP00000366323:H157Y	H	-	1	0	NEBL	21209740	1.000000	0.71417	0.447000	0.26932	0.998000	0.95712	1.269000	0.33074	0.382000	0.24878	0.563000	0.77884	CAC		0.403	NEBL-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000047113.1	NM_006393		7	59	0	0	0	1	0	7	59					A	21169734	G	A	21169734	3	1	378	1	0	0	0	0	1	0	0	0	10303	1377	48	3	2671	3	NEBL	10	21169734	Missense_Mutation	SNP	G	TCGA-V1-A8WV-01A-11D-A377-08		21169734	114365013	25	18638											
C10orf11	83938	broad.mit.edu	37	chr10	77806998	77806998	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtacctcagtctgctgggcaAcgtggcctgtcccaacgagc	7	8	12	14	2	2	0	1	0	1	0	3	1	3	0	3	2	5	3	3	2	3	1			TCGA-V1-A8WV-01A-11D-A377-08	TCGA-V1-A8WV-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb3d2a6b-9f91-4cc4-8f42-129e41672023	84819ecf-df76-4072-96dc-6a298f4b3b0c	g.chr10:77806998A>C	ENST00000372499.1	+	3	466	c.251A>C	c.(250-252)aAc>aCc	p.N84T	C10orf11_ENST00000593699.1_3'UTR	NM_032024.3	NP_114413.1	Q9H2I8	CJ011_HUMAN	chromosome 10 open reading frame 11	84					melanocyte differentiation (GO:0030318)					endometrium(1)|large_intestine(4)|lung(4)|stomach(1)	10	Prostate(51;0.0095)|all_epithelial(25;0.0221)					CTGCTGGGCAACGTGGCCTGT	0.517																																						ENST00000372499.1																			0				endometrium(1)|large_intestine(4)|lung(4)|stomach(1)	10						c.(250-252)aAc>aCc		chromosome 10 open reading frame 11							107	97	100					10																	77806998		2203	4300	6503	SO:0001583	missense	83938							g.chr10:77806998A>C	AF267860	CCDS7351.1	10q22.3	2013-08-22			ENSG00000148655	ENSG00000148655			23405	protein-coding gene	gene with protein product	"oculocutaneous albinism 7, autosomal recessive"	614537				23395477	Standard	NM_032024		Approved	CDA017, OCA7	uc001jxi.3	Q9H2I8	OTTHUMG00000018532	ENST00000372499.1:c.251A>C	10.37:g.77806998A>C	ENSP00000361577:p.Asn84Thr					C10orf11_ENST00000593699.1_3'UTR	p.N84T	NM_032024.3	NP_114413.1	Q9H2I8	CJ011_HUMAN			3	466	+	Prostate(51;0.0095)|all_epithelial(25;0.0221)		84					B1AVW6	Missense_Mutation	SNP	ENST00000372499.1	37	c.251A>C	CCDS7351.1	.	.	.	.	.	.	.	.	.	.	A	25.2	4.611965	0.87258	.	.	ENSG00000148655	ENST00000354343;ENST00000372499	T	0.56611	0.45	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	D	0.82332	0.5014	H	0.96889	3.9	0.58432	D	0.999993	D	0.89917	1.0	D	0.97110	1.0	D	0.88156	0.2854	10	0.72032	D	0.01	-14.8538	16.6406	0.85098	1.0:0.0:0.0:0.0	.	84	Q9H2I8	CJ011_HUMAN	T	112;84	ENSP00000361577:N84T	ENSP00000346310:N112T	N	+	2	0	C10orf11	77477004	1.000000	0.71417	0.620000	0.29132	0.994000	0.84299	8.962000	0.93254	2.326000	0.78906	0.533000	0.62120	AAC		0.517	C10orf11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048839.1	NM_032024		9	55	0	0	0	1	0	9	55					C	77806998	A	C	77806998	3	2	378	1	0	0	0	0	1	0	0	0	1582	43	2	5	261	5	C10orf11	10	77806998	Missense_Mutation	SNP	A	TCGA-V1-A8WV-01A-11D-A377-08	56637264	77806998	57727749	26	18639											
MMP26	56547	broad.mit.edu	37	chr11	5013446	5013446	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttttttctgtttccataggaGaaaaatgttcatctgacata	12	17	6	6	0	3	2	1	1	2	1	4	3	4	2	1	1	0	2	1	1	4	7			TCGA-V1-A8WV-01A-11D-A377-08	TCGA-V1-A8WV-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb3d2a6b-9f91-4cc4-8f42-129e41672023	84819ecf-df76-4072-96dc-6a298f4b3b0c	g.chr11:5013446G>C	ENST00000380390.1	+	7	976	c.760G>C	c.(760-762)Gaa>Caa	p.E254Q	MMP26_ENST00000300762.1_Missense_Mutation_p.E254Q			Q9NRE1	MMP26_HUMAN	matrix metallopeptidase 26	254					collagen catabolic process (GO:0030574)|proteolysis (GO:0006508)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(11)|pancreas(1)|skin(3)|stomach(1)	22		Medulloblastoma(188;0.0025)|Breast(177;0.0204)|all_neural(188;0.0227)		Epithelial(150;1.33e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0287)|LUSC - Lung squamous cell carcinoma(625;0.191)	Marimastat(DB00786)	TTCCATAGGAGAAAAATGTTC	0.383																																						ENST00000380390.1																			0				breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(11)|pancreas(1)|skin(3)|stomach(1)	22						c.(760-762)Gaa>Caa		matrix metallopeptidase 26							90	75	80					11																	5013446		2201	4298	6499	SO:0001583	missense	56547				collagen catabolic process|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr11:5013446G>C	AF230354	CCDS7752.1	11p15	2008-07-18	2005-08-08		ENSG00000167346	ENSG00000167346	3.4.24.1		14249	protein-coding gene	gene with protein product	"matrilysin 2"	605470	"matrix metalloproteinase 26"			10801841, 10824119	Standard	NM_021801		Approved	endometase, MGC126590, MGC126592	uc001lzv.3	Q9NRE1	OTTHUMG00000066442	ENST00000380390.1:c.760G>C	11.37:g.5013446G>C	ENSP00000369753:p.Glu254Gln					MMP26_ENST00000300762.1_Missense_Mutation_p.E254Q	p.E254Q			Q9NRE1	MMP26_HUMAN		Epithelial(150;1.33e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0287)|LUSC - Lung squamous cell carcinoma(625;0.191)	7	976	+		Medulloblastoma(188;0.0025)|Breast(177;0.0204)|all_neural(188;0.0227)	254					Q3MJ78|Q9GZS2|Q9NR87	Missense_Mutation	SNP	ENST00000380390.1	37	c.760G>C	CCDS7752.1	.	.	.	.	.	.	.	.	.	.	G	3.576	-0.086634	0.07097	.	.	ENSG00000167346	ENST00000380390;ENST00000300762	T;T	0.50001	0.76;0.76	2.52	-0.548	0.11833	Peptidase, metallopeptidase (1);Metallopeptidase, catalytic domain (1);	1.778320	0.04117	U	0.315664	T	0.31451	0.0797	L	0.33792	1.035	0.09310	N	1	B	0.30584	0.286	B	0.19148	0.024	T	0.13442	-1.0509	10	0.40728	T	0.16	-0.0036	3.0263	0.06092	0.2915:0.235:0.4735:0.0	.	254	Q9NRE1	MMP26_HUMAN	Q	254	ENSP00000369753:E254Q;ENSP00000300762:E254Q	ENSP00000300762:E254Q	E	+	1	0	MMP26	4970022	0.895000	0.30542	0.179000	0.23059	0.045000	0.14185	0.279000	0.18771	-0.124000	0.11724	0.491000	0.48974	GAA		0.383	MMP26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142058.3	NM_021801		8	35	0	0	0	1	0	8	35					C	5013446	G	C	5013446	3	2	378	1	0	0	0	0	1	0	0	0	9663	943	33	5	782	5	MMP26	11	5013446	Missense_Mutation	SNP	G	TCGA-V1-A8WV-01A-11D-A377-08		5013446	129993070	27	18640											
PRMT3	10196	broad.mit.edu	37	chr11	20424497	20424497	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acagaaagctaccgagatttCatataccaaaatccacatat	18	9	4	10	1	1	2	1	0	0	2	2	3	2	2	3	0	3	1	3	0	7	5			TCGA-V1-A8WV-01A-11D-A377-08	TCGA-V1-A8WV-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb3d2a6b-9f91-4cc4-8f42-129e41672023	84819ecf-df76-4072-96dc-6a298f4b3b0c	g.chr11:20424497C>T	ENST00000331079.6	+	8	955	c.738C>T	c.(736-738)ttC>ttT	p.F246F	PRMT3_ENST00000437750.2_Silent_p.F184F	NM_001145167.1|NM_005788.3	NP_001138639.1|NP_005779	O60678	ANM3_HUMAN	protein arginine methyltransferase 3	246	SAM-dependent MTase PRMT-type. {ECO:0000255|PROSITE-ProRule:PRU01015}.				histone arginine methylation (GO:0034969)|negative regulation of protein ubiquitination (GO:0031397)|peptidyl-arginine methylation, to asymmetrical-dimethyl arginine (GO:0019919)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|ribosome (GO:0005840)	histone-arginine N-methyltransferase activity (GO:0008469)|metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)|modified amino acid binding (GO:0072341)|protein-arginine N-methyltransferase activity (GO:0016274)|protein-arginine omega-N asymmetric methyltransferase activity (GO:0035242)			endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|prostate(1)	17						ACCGAGATTTCATATACCAAA	0.353																																						ENST00000331079.6																			0				endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|prostate(1)	17						c.(736-738)ttC>ttT		protein arginine methyltransferase 3							144	151	148					11																	20424497		2203	4300	6503	SO:0001819	synonymous_variant	10196						zinc ion binding	g.chr11:20424497C>T	AF059531	CCDS7853.1, CCDS44554.1	11p15.1	2008-02-05	2006-02-16	2006-02-16	ENSG00000185238	ENSG00000185238		"Protein arginine methyltransferases"	30163	protein-coding gene	gene with protein product		603190	"HMT1 hnRNP methyltransferase-like 3 (S. cerevisiae)"	HRMT1L3		9642256	Standard	NM_005788		Approved		uc001mqb.3	O60678	OTTHUMG00000166022	ENST00000331079.6:c.738C>T	11.37:g.20424497C>T						PRMT3_ENST00000437750.2_Silent_p.F184F	p.F246F	NM_001145167.1|NM_005788.3	NP_001138639.1|NP_005779.1	O60678	ANM3_HUMAN			8	955	+			246					B4DUC7	Silent	SNP	ENST00000331079.6	37	c.738C>T	CCDS7853.1																																																																																				0.353	PRMT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387489.1	NM_005788		24	53	0	0	0	1	0	24	53					T	20424497	C	T	20424497	2	4	378	1	0	0	0	0	0	0	0	1	12538	825	29	3		3	PRMT3	11	20424497	Silent	SNP	C	TCGA-V1-A8WV-01A-11D-A377-08	15411051	20424497	114582019	28	18641											
TCIRG1	10312	broad.mit.edu	37	chr11	67818000	67818000	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gtgatgcgcataggcctgggCctgggccgggaggtgggcgt	4	7	21	9	3	0	1	0	1	0	0	0	2	0	2	3	6	1	1	3	6	1	1			TCGA-V1-A8WV-01A-11D-A377-08	TCGA-V1-A8WV-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb3d2a6b-9f91-4cc4-8f42-129e41672023	84819ecf-df76-4072-96dc-6a298f4b3b0c	g.chr11:67818000C>T	ENST00000265686.3	+	19	2391	c.2283C>T	c.(2281-2283)ggC>ggT	p.G761G	RP11-802E16.3_ENST00000534517.1_RNA|TCIRG1_ENST00000532635.1_Silent_p.G545G|RP11-802E16.3_ENST00000529934.1_RNA|RP11-802E16.3_ENST00000526897.1_RNA|CHKA_ENST00000533728.1_5'Flank|TCIRG1_ENST00000530802.1_Intron	NM_006019.3	NP_006010.2	Q13488	VPP3_HUMAN	T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 subunit A3	761					ATP hydrolysis coupled proton transport (GO:0015991)|cellular defense response (GO:0006968)|cellular iron ion homeostasis (GO:0006879)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|positive regulation of cell proliferation (GO:0008284)|proton transport (GO:0015992)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|endosome membrane (GO:0010008)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|mitochondrion (GO:0005739)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)|vacuolar proton-transporting V-type ATPase, V0 domain (GO:0000220)	hydrogen ion transmembrane transporter activity (GO:0015078)|transporter activity (GO:0005215)			breast(1)|endometrium(4)|large_intestine(3)|lung(4)|ovary(3)|prostate(1)	16						TAGGCCTGGGCCTGGGCCGGG	0.657																																						ENST00000265686.3																			0				breast(1)|endometrium(4)|large_intestine(3)|lung(4)|ovary(3)|prostate(1)	16						c.(2281-2283)ggC>ggT		T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 subunit A3							104	118	113					11																	67818000		2200	4293	6493	SO:0001819	synonymous_variant	10312				ATP hydrolysis coupled proton transport|cellular defense response|cellular iron ion homeostasis|insulin receptor signaling pathway|positive regulation of cell proliferation|transferrin transport	apical plasma membrane|endosome membrane|integral to plasma membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	hydrogen ion transmembrane transporter activity	g.chr11:67818000C>T	AF025374	CCDS8177.1, CCDS53670.1	11q13.2	2014-09-17	2006-01-20		ENSG00000110719	ENSG00000110719		"ATPases / V-type"	11647	protein-coding gene	gene with protein product	"T-cell immune response cDNA 7"	604592	"T-cell, immune regulator 1", "T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 protein a isoform 3", "T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 protein A3"			8579597, 9806637	Standard	NM_006019		Approved	TIRC7, OC-116, OC116, ATP6N1C, Atp6i, a3, ATP6V0A3	uc001one.3	Q13488	OTTHUMG00000167358	ENST00000265686.3:c.2283C>T	11.37:g.67818000C>T						TCIRG1_ENST00000532635.1_Silent_p.G545G|TCIRG1_ENST00000530802.1_Intron	p.G761G	NM_006019.3	NP_006010.2	Q13488	VPP3_HUMAN			19	2391	+			761					O75877|Q8WVC5	Silent	SNP	ENST00000265686.3	37	c.2283C>T	CCDS8177.1																																																																																				0.657	TCIRG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394305.1	NM_006019		17	126	0	0	0	1	0	17	126					T	67818000	C	T	67818000	2	4	378	1	0	0	0	0	0	0	0	1	15700	726	26	3		3	TCIRG1	11	67818000	Silent	SNP	C	TCGA-V1-A8WV-01A-11D-A377-08	47393503	67818000	67188516	29	18642											
PHLDB1	23187	broad.mit.edu	37	chr11	118514553	118514553	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	atggatggcgaggccaccagCccccttccccggacccgcag	7	4	12	18	3	0	0	0	0	0	0	1	3	1	2	7	4	1	1	7	4	0	1			TCGA-V1-A8WV-01A-11D-A377-08	TCGA-V1-A8WV-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb3d2a6b-9f91-4cc4-8f42-129e41672023	84819ecf-df76-4072-96dc-6a298f4b3b0c	g.chr11:118514553C>T	ENST00000361417.2	+	15	3324	c.2913C>T	c.(2911-2913)agC>agT	p.S971S	PHLDB1_ENST00000356063.5_Silent_p.S924S|PHLDB1_ENST00000524713.1_Silent_p.S114S|PHLDB1_ENST00000527898.1_Silent_p.S7S|PHLDB1_ENST00000534672.1_3'UTR	NM_015157.3	NP_055972.1	Q86UU1	PHLB1_HUMAN	pleckstrin homology-like domain, family B, member 1	971										breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(10)|liver(3)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(1)	46	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)		AGGCCACCAGCCCCCTTCCCC	0.662																																						ENST00000361417.2																			0				breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(10)|liver(3)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(1)	46						c.(2911-2913)agC>agT		pleckstrin homology-like domain, family B, member 1							56	63	61					11																	118514553		2200	4295	6495	SO:0001819	synonymous_variant	23187							g.chr11:118514553C>T		CCDS8401.1, CCDS44750.1	11q23.3	2013-01-10			ENSG00000019144	ENSG00000019144		"Pleckstrin homology (PH) domain containing"	23697	protein-coding gene	gene with protein product		612834				14532993	Standard	NM_015157		Approved	FLJ00141, LL5a, KIAA0638	uc001pts.3	Q86UU1	OTTHUMG00000166341	ENST00000361417.2:c.2913C>T	11.37:g.118514553C>T						PHLDB1_ENST00000527898.1_Silent_p.S7S|PHLDB1_ENST00000534672.1_3'UTR|PHLDB1_ENST00000524713.1_Silent_p.S114S|PHLDB1_ENST00000356063.5_Silent_p.S924S	p.S971S	NM_015157.3	NP_055972.1	Q86UU1	PHLB1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)	15	3324	+	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)|all_neural(223;0.224)	971					B0YJ63|B0YJ64|O75133|Q4KMF8|Q8TEQ2	Silent	SNP	ENST00000361417.2	37	c.2913C>T	CCDS8401.1																																																																																				0.662	PHLDB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389279.1	NM_015157		13	26	0	0	0	1	0	13	26					T	118514553	C	T	118514553	2	4	378	1	0	0	0	0	0	0	0	1	11851	738	26	3		3	PHLDB1	11	118514553	Silent	SNP	C	TCGA-V1-A8WV-01A-11D-A377-08	50696553	118514553	16491963	30	18643											
KIAA1467	57613	broad.mit.edu	37	chr12	13215818	13215818	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aaacccaaactacttgtccaAcggtaccttggctgccccag	11	8	7	15	1	0	0	0	0	0	0	1	0	1	0	5	2	6	2	5	2	5	4	rs371903376		TCGA-V1-A8WV-01A-11D-A377-08	TCGA-V1-A8WV-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb3d2a6b-9f91-4cc4-8f42-129e41672023	84819ecf-df76-4072-96dc-6a298f4b3b0c	g.chr12:13215818A>C	ENST00000197268.8	+	5	881	c.761A>C	c.(760-762)aAc>aCc	p.N254T		NM_020853.1	NP_065904.1	A2RU67	K1467_HUMAN	KIAA1467	254						integral component of membrane (GO:0016021)				NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|prostate(1)|skin(4)	36		Prostate(47;0.184)		BRCA - Breast invasive adenocarcinoma(232;0.157)		TACTTGTCCAACGGTACCTTG	0.493																																						ENST00000197268.8																			0				NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|prostate(1)|skin(4)	36						c.(760-762)aAc>aCc		KIAA1467							247	227	234					12																	13215818		2203	4300	6503	SO:0001583	missense	57613					integral to membrane		g.chr12:13215818A>C	AB040900	CCDS31750.1	12p13.1	2006-01-23				ENSG00000084444			29288	protein-coding gene	gene with protein product						10819331	Standard	XM_005253450		Approved		uc001rbi.3	A2RU67		ENST00000197268.8:c.761A>C	12.37:g.13215818A>C	ENSP00000197268:p.Asn254Thr						p.N254T	NM_020853.1	NP_065904.1	A2RU67	K1467_HUMAN		BRCA - Breast invasive adenocarcinoma(232;0.157)	5	881	+		Prostate(47;0.184)	254					Q49AF2|Q5CZ81|Q6ZUV7|Q9P261	Missense_Mutation	SNP	ENST00000197268.8	37	c.761A>C	CCDS31750.1	.	.	.	.	.	.	.	.	.	.	A	10.56	1.384270	0.25031	.	.	ENSG00000084444	ENST00000197268;ENST00000537625	T;T	0.39229	1.09;1.6	5.57	4.41	0.53225	Quinonprotein alcohol dehydrogenase-like (1);	0.075974	0.56097	D	0.000035	T	0.37237	0.0996	M	0.62723	1.935	0.23101	N	0.998296	B	0.24368	0.102	B	0.27380	0.079	T	0.18085	-1.0348	10	0.20519	T	0.43	-0.2168	8.4763	0.33016	0.7565:0.0:0.2435:0.0	.	254	A2RU67	K1467_HUMAN	T	254;30	ENSP00000197268:N254T;ENSP00000437974:N30T	ENSP00000197268:N254T	N	+	2	0	KIAA1467	13107085	0.942000	0.31987	0.491000	0.27477	0.280000	0.26924	1.859000	0.39418	2.114000	0.64651	0.460000	0.39030	AAC		0.493	KIAA1467-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401007.1	NM_020853		5	143	0	0	0	1	0	5	143					C	13215818	A	C	13215818	3	2	378	1	0	0	0	0	1	0	0	0	8235	43	2	5	779	5	KIAA1467	12	13215818	Missense_Mutation	SNP	A	TCGA-V1-A8WV-01A-11D-A377-08		13215818	120636077	31	18644											
TMTC3	160418	broad.mit.edu	37	chr12	88560143	88560143	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgtaagcccaactcctacAaggcaactaacttttaacta	14	10	5	12	0	0	0	0	0	0	0	1	0	1	0	2	1	6	3	2	1	8	6			TCGA-V1-A8WV-01A-11D-A377-08	TCGA-V1-A8WV-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb3d2a6b-9f91-4cc4-8f42-129e41672023	84819ecf-df76-4072-96dc-6a298f4b3b0c	g.chr12:88560143A>G	ENST00000266712.6	+	7	1054	c.834A>G	c.(832-834)acA>acG	p.T278T		NM_181783.3	NP_861448.2	Q6ZXV5	TMTC3_HUMAN	transmembrane and tetratricopeptide repeat containing 3	278					bud outgrowth involved in lung branching (GO:0060447)|lung alveolus development (GO:0048286)|muscle fiber development (GO:0048747)|post-embryonic development (GO:0009791)|regulation of gene expression (GO:0010468)	integral component of membrane (GO:0016021)				NS(1)|breast(2)|endometrium(1)|kidney(4)|large_intestine(5)|liver(1)|lung(12)|prostate(4)|skin(1)	31						CAACTCCTACAAGGCAACTAA	0.348																																						ENST00000266712.6																			0				NS(1)|breast(2)|endometrium(1)|kidney(4)|large_intestine(5)|liver(1)|lung(12)|prostate(4)|skin(1)	31						c.(832-834)acA>acG		transmembrane and tetratricopeptide repeat containing 3							134	125	128					12																	88560143		2203	4300	6503	SO:0001819	synonymous_variant	160418					integral to membrane	binding	g.chr12:88560143A>G		CCDS9032.1	12q21.32	2014-09-04			ENSG00000139324	ENSG00000139324		"Tetratricopeptide (TTC) repeat domain containing"	26899	protein-coding gene	gene with protein product							Standard	NM_181783		Approved	FLJ90492, SMILE	uc001tau.3	Q6ZXV5	OTTHUMG00000169887	ENST00000266712.6:c.834A>G	12.37:g.88560143A>G							p.T278T	NM_181783.3	NP_861448.2	Q6ZXV5	TMTC3_HUMAN			7	1054	+			278					Q5CZ86|Q5H9T6|Q68DQ6|Q68DX0|Q7Z332|Q8NC50	Silent	SNP	ENST00000266712.6	37	c.834A>G	CCDS9032.1																																																																																				0.348	TMTC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406421.1	NM_181783		4	56	0	0	0	1	0	4	56					G	88560143	A	G	88560143	2	3	378	1	0	0	0	0	0	0	0	1	16259	117	5	4		4	TMTC3	12	88560143	Silent	SNP	A	TCGA-V1-A8WV-01A-11D-A377-08	75344325	88560143	45291752	32	18645											
ACTR6	64431	broad.mit.edu	37	chr12	100617651	100617657	+	Frame_Shift_Del	DEL	AGAAAAT	AGAAAAT	-																															gtaacaagagaagattacgaAgaaaatggacatagcgtctg																										TCGA-V1-A8WV-01A-11D-A377-08	TCGA-V1-A8WV-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb3d2a6b-9f91-4cc4-8f42-129e41672023	84819ecf-df76-4072-96dc-6a298f4b3b0c	g.chr12:100617651_100617657delAGAAAAT	ENST00000188312.2	+	11	1914_1920	c.1149_1155delAGAAAAT	c.(1147-1155)gaagaaaatfs	p.EEN383fs	ACTR6_ENST00000546902.1_Frame_Shift_Del_p.EEN301fs|ACTR6_ENST00000552376.1_Frame_Shift_Del_p.EEN363fs|ACTR6_ENST00000551617.1_Frame_Shift_Del_p.EEN281fs	NM_022496.4	NP_071941.1	Q9GZN1	ARP6_HUMAN	ARP6 actin-related protein 6 homolog (yeast)	383						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)		p.E384K(1)		autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(2)|skin(1)	14						AAGATTACGAAGAAAATGGACATAGCG	0.329																																						ENST00000188312.2																			1	Substitution - Missense(1)	p.E384K(1)	lung(1)	autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(2)|skin(1)	14						c.(1147-1155)gafs		ARP6 actin-related protein 6 homolog (yeast)																																				SO:0001589	frameshift_variant	64431					cytoplasm|cytoskeleton		g.chr12:100617651_100617657delAGAAAAT	AF212251	CCDS9074.1	12q23.1	2012-07-09			ENSG00000075089	ENSG00000075089			24025	protein-coding gene	gene with protein product						11368909	Standard	NM_022496		Approved	ARP6, FLJ13433	uc001thb.2	Q9GZN1	OTTHUMG00000170245	ENST00000188312.2:c.1149_1155delAGAAAAT	12.37:g.100617651_100617657delAGAAAAT	ENSP00000188312:p.Glu383fs					ACTR6_ENST00000546902.1_Frame_Shift_Del_p.EEN301fs|ACTR6_ENST00000551617.1_Frame_Shift_Del_p.EEN281fs|ACTR6_ENST00000552376.1_Frame_Shift_Del_p.EEN363fs	p.EEN383fs	NM_022496.4	NP_071941.1	Q9GZN1	ARP6_HUMAN			11	1914_1920	+			383					B3KW37|B4DLG9|Q53GH2|Q9BY39|Q9H8H6	Frame_Shift_Del	DEL	ENST00000188312.2	37	c.1149_1155delAGAAAAT	CCDS9074.1																																																																																				0.329	ACTR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408159.1	NM_022496		7	46						7	46	---	---	---	---	-	100617657	AGAAAAT	-	100617651	7	5	378	1	0	1	0	1	0	0	0	0	216	69	3	0	1191	0	ACTR6	12	100617651	Frame_Shift_Del	DEL	AGAAAAT	TCGA-V1-A8WV-01A-11D-A377-08	12057508	100617651	33234244	33	18646											
CIT	11113	broad.mit.edu	37	chr12	120288024	120288024	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggcatactgtaattgggggAtccacgggcttgtgcttcga	8	11	14	8	2	0	0	0	0	0	0	2	2	1	1	1	4	2	4	1	4	2	5			TCGA-V1-A8WV-01A-11D-A377-08	TCGA-V1-A8WV-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb3d2a6b-9f91-4cc4-8f42-129e41672023	84819ecf-df76-4072-96dc-6a298f4b3b0c	g.chr12:120288024A>T	ENST00000261833.7	-	5	522	c.470T>A	c.(469-471)aTc>aAc	p.I157N	CIT_ENST00000392521.2_Missense_Mutation_p.I157N	NM_007174.2	NP_009105.1	O14578	CTRO_HUMAN	citron rho-interacting serine/threonine kinase	157	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cytokinesis (GO:0000910)|dendrite development (GO:0016358)|G2/M transition of mitotic cell cycle (GO:0000086)|generation of neurons (GO:0048699)|Golgi organization (GO:0007030)|intracellular signal transduction (GO:0035556)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic nuclear division (GO:0007067)|mitotic sister chromatid segregation (GO:0000070)|negative regulation of dendrite morphogenesis (GO:0050774)|regulation of actin polymerization or depolymerization (GO:0008064)|spermatogenesis (GO:0007283)	actin cytoskeleton (GO:0015629)|Golgi cisterna (GO:0031985)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|vacuole (GO:0005773)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|PDZ domain binding (GO:0030165)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	86	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)		BRCA - Breast invasive adenocarcinoma(302;0.211)		TAATTGGGGGATCCACGGGCT	0.408																																						ENST00000392521.2																			0				breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	86						c.(469-471)aTc>aAc		citron (rho-interacting, serine/threonine kinase 21)							259	265	263					12																	120288024		2203	4300	6503	SO:0001583	missense	11113				intracellular signal transduction		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding|small GTPase regulator activity	g.chr12:120288024A>T	AB023166	CCDS9192.1, CCDS55891.1	12q24.23	2014-04-23	2014-04-23		ENSG00000122966	ENSG00000122966			1985	protein-coding gene	gene with protein product	"serine/threonine kinase 21"	605629	"citron (rho-interacting, serine/threonine kinase 21)"			9792683	Standard	NM_001206999		Approved	KIAA0949, STK21, CRIK	uc001txj.2	O14578	OTTHUMG00000134325	ENST00000261833.7:c.470T>A	12.37:g.120288024A>T	ENSP00000261833:p.Ile157Asn					CIT_ENST00000261833.7_Missense_Mutation_p.I157N	p.I157N	NM_001206999.1	NP_001193928.1	O14578	CTRO_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.211)	5	525	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)	157			Protein kinase.		Q2M5E1|Q6XUH8|Q86UQ9|Q9UPZ7	Missense_Mutation	SNP	ENST00000261833.7	37	c.470T>A	CCDS9192.1	.	.	.	.	.	.	.	.	.	.	A	25.0	4.591498	0.86953	.	.	ENSG00000122966	ENST00000392521;ENST00000261833;ENST00000536325	T;T;T	0.58358	0.34;0.34;2.41	5.28	5.28	0.74379	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	D	0.000001	T	0.81692	0.4876	H	0.96691	3.865	0.80722	D	1	D;D	0.76494	0.999;0.994	D;D	0.87578	0.998;0.997	D	0.88163	0.2859	10	0.87932	D	0	.	15.2206	0.73308	1.0:0.0:0.0:0.0	.	157;157	Q2M5E1;O14578	.;CTRO_HUMAN	N	157;157;74	ENSP00000376306:I157N;ENSP00000261833:I157N;ENSP00000443199:I74N	ENSP00000261833:I157N	I	-	2	0	CIT	118772407	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.079000	0.94032	2.000000	0.58554	0.533000	0.62120	ATC		0.408	CIT-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000259410.4	NM_007174		6	176	0	0	0	1	0	6	176					T	120288024	A	T	120288024	3	4	378	1	0	0	0	0	1	0	0	0	3438	333	12	5	5785	5	CIT	12	120288024	Missense_Mutation	SNP	A	TCGA-V1-A8WV-01A-11D-A377-08	19670373	120288024	13563871	34	18647											
NCOR2	9612	broad.mit.edu	37	chr12	124812062	124812062	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	taaaagcattggcgctgagcGgcggggactcttcccactgg	8	8	14	11	3	1	1	0	1	1	0	2	2	2	2	1	5	2	2	1	5	2	3	rs199616664		TCGA-V1-A8WV-01A-11D-A377-08	TCGA-V1-A8WV-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb3d2a6b-9f91-4cc4-8f42-129e41672023	84819ecf-df76-4072-96dc-6a298f4b3b0c	g.chr12:124812062G>A	ENST00000405201.1	-	45	7076	c.7076C>T	c.(7075-7077)cCg>cTg	p.P2359L	NCOR2_ENST00000397355.1_Intron|NCOR2_ENST00000404121.2_Missense_Mutation_p.P1920L|NCOR2_ENST00000404621.1_Intron|NCOR2_ENST00000429285.2_Missense_Mutation_p.P2349L|NCOR2_ENST00000356219.3_Missense_Mutation_p.P2366L			Q9Y618	NCOR2_HUMAN	nuclear receptor corepressor 2	2370					cellular lipid metabolic process (GO:0044255)|gene expression (GO:0010467)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|regulation of cellular ketone metabolic process by negative regulation of transcription from RNA polymerase II promoter (GO:0072365)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	membrane (GO:0016020)|nuclear body (GO:0016604)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone deacetylase binding (GO:0042826)|Notch binding (GO:0005112)|protein N-terminus binding (GO:0047485)|transcription corepressor activity (GO:0003714)			breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		GGCGCTGAGCGGCGGGGACTC	0.582													G|||	1	0.000199681	0	0	5008	,	,		9392	0		0	False		,,,				2504	0.001					ENST00000356219.3																			0				breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						c.(7096-7098)cCg>cTg		nuclear receptor corepressor 2		G	LEU/PRO,LEU/PRO,	1,4149		0,1,2074	66	75	72		7046,7076,	3.1	1	12		72	3,8401		0,3,4199	yes	missense,missense,intron	NCOR2	NM_001206654.1,NM_006312.5,NM_001077261.3	98,98,	0,4,6273	AA,AG,GG		0.0357,0.0241,0.0319	possibly-damaging,possibly-damaging,	2349/2505,2359/2515,	124812062	4,12550	2075	4202	6277	SO:0001583	missense	9612				cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity	g.chr12:124812062G>A	U37146	CCDS41857.1, CCDS41858.1, CCDS41857.2, CCDS41858.2, CCDS55892.1	12q24	2010-06-10	2010-06-10		ENSG00000196498	ENSG00000196498			7673	protein-coding gene	gene with protein product		600848	"nuclear receptor co-repressor 2"			7566127, 8813722	Standard	NM_001077261		Approved	SMRT, SMRTE, TRAC-1, CTG26, TNRC14	uc010tbb.2	Q9Y618	OTTHUMG00000150455	ENST00000405201.1:c.7076C>T	12.37:g.124812062G>A	ENSP00000384018:p.Pro2359Leu					NCOR2_ENST00000429285.2_Missense_Mutation_p.P2349L|NCOR2_ENST00000405201.1_Missense_Mutation_p.P2359L|NCOR2_ENST00000404621.1_Intron|NCOR2_ENST00000397355.1_Intron|NCOR2_ENST00000404121.2_Missense_Mutation_p.P1920L	p.P2366L	NM_006312.5	NP_006303.4	Q9Y618	NCOR2_HUMAN		Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)	46	7252	-	all_neural(191;0.0804)|Medulloblastoma(191;0.163)		2370					O00613|O15416|O15421|Q13354|Q56D06|Q59GM0|Q9Y5U0	Missense_Mutation	SNP	ENST00000405201.1	37	c.7097C>T	CCDS41858.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.37|13.37	2.215522|2.215522	0.39102|0.39102	2.41E-4|2.41E-4	3.57E-4|3.57E-4	ENSG00000196498|ENSG00000196498	ENST00000405201;ENST00000356219;ENST00000447011;ENST00000404121;ENST00000447675;ENST00000429285|ENST00000413172	T;T;T;T|.	0.17528|.	2.27;2.27;2.27;2.53|.	4.06|4.06	3.12|3.12	0.35913|0.35913	.|.	0.147136|.	0.44688|.	U|.	0.000432|.	T|T	0.54481|0.54481	0.1861|0.1861	L|L	0.36672|0.36672	1.1|1.1	0.44852|0.44852	D|D	0.997864|0.997864	P|.	0.44309|.	0.832|.	B|.	0.39379|.	0.298|.	T|T	0.46133|0.46133	-0.9213|-0.9213	10|5	0.49607|.	T|.	0.09|.	-28.8177|-28.8177	13.1956|13.1956	0.59736|0.59736	0.0:0.1619:0.8381:0.0|0.0:0.1619:0.8381:0.0	.|.	2359|.	C9JFD3|.	.|.	L|C	2359;2366;2358;1920;451;2349|24	ENSP00000384018:P2359L;ENSP00000348551:P2366L;ENSP00000385618:P1920L;ENSP00000400281:P2349L|.	ENSP00000348551:P2366L|.	P|R	-|-	2|1	0|0	NCOR2|NCOR2	123378015|123378015	1.000000|1.000000	0.71417|0.71417	0.979000|0.979000	0.43373|0.43373	0.984000|0.984000	0.73092|0.73092	8.039000|8.039000	0.88947|0.88947	0.602000|0.602000	0.29896|0.29896	0.491000|0.491000	0.48974|0.48974	CCG|CGC		0.582	NCOR2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318173.2	NM_006312		5	58	0	0	0	1	0	5	58					A	124812062	G	A	124812062	3	1	378	1	0	0	0	0	1	0	0	0	10236	1116	39	2	480	2	NCOR2	12	124812062	Missense_Mutation	SNP	G	TCGA-V1-A8WV-01A-11D-A377-08	4524038	124812062	9039833	35	18648											
SALL1	6299	broad.mit.edu	37	chr16	51174514	51174514	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctggtttggtgtctagccagCtggtgactggcttctctgga	4	14	14	9	0	2	1	0	1	2	0	3	2	2	2	1	5	2	3	1	5	1	3			TCGA-V1-A8WV-01A-11D-A377-08	TCGA-V1-A8WV-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb3d2a6b-9f91-4cc4-8f42-129e41672023	84819ecf-df76-4072-96dc-6a298f4b3b0c	g.chr16:51174514C>T	ENST00000251020.4	-	2	1652	c.1619G>A	c.(1618-1620)aGc>aAc	p.S540N	SALL1_ENST00000562674.1_5'Flank|SALL1_ENST00000566102.1_Intron|SALL1_ENST00000440970.1_Missense_Mutation_p.S443N|SALL1_ENST00000541611.1_Intron	NM_002968.2	NP_002959.2	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	540					adrenal gland development (GO:0030325)|branching involved in ureteric bud morphogenesis (GO:0001658)|embryonic digestive tract development (GO:0048566)|embryonic digit morphogenesis (GO:0042733)|forelimb morphogenesis (GO:0035136)|gonad development (GO:0008406)|heart development (GO:0007507)|hindlimb morphogenesis (GO:0035137)|histone deacetylation (GO:0016575)|inductive cell-cell signaling (GO:0031129)|kidney development (GO:0001822)|kidney epithelium development (GO:0072073)|limb development (GO:0060173)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|olfactory bulb interneuron differentiation (GO:0021889)|olfactory bulb mitral cell layer development (GO:0061034)|olfactory nerve development (GO:0021553)|outer ear morphogenesis (GO:0042473)|pituitary gland development (GO:0021983)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of neural precursor cell proliferation (GO:2000177)|transcription, DNA-templated (GO:0006351)|ureteric bud development (GO:0001657)|ureteric bud invasion (GO:0072092)|ventricular septum development (GO:0003281)	chromocenter (GO:0010369)|cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			GTCTAGCCAGCTGGTGACTGG	0.557																																					GBM(103;1352 1446 1855 4775 8890)	ENST00000440970.1																			0				NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126						c.(1327-1329)aGc>aAc		spalt-like transcription factor 1							68	65	66					16																	51174514		2198	4300	6498	SO:0001583	missense	6299				adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr16:51174514C>T	X98833	CCDS10747.1, CCDS45483.1	16q12.1	2014-09-17	2013-10-17		ENSG00000103449	ENSG00000103449		"Zinc fingers, C2H2-type"	10524	protein-coding gene	gene with protein product		602218	"sal (Drosophila)-like 1", "sal-like 1 (Drosophila)"	TBS		9425907	Standard	NM_002968		Approved	Hsal1, ZNF794	uc021tie.1	Q9NSC2	OTTHUMG00000133176	ENST00000251020.4:c.1619G>A	16.37:g.51174514C>T	ENSP00000251020:p.Ser540Asn					SALL1_ENST00000541611.1_Intron|SALL1_ENST00000566102.1_Intron|SALL1_ENST00000251020.4_Missense_Mutation_p.S540N	p.S443N	NM_001127892.1	NP_001121364.1	Q9NSC2	SALL1_HUMAN	COAD - Colon adenocarcinoma(2;0.24)		2	1759	-		all_cancers(37;0.0322)	540					Q99881|Q9NSC3|Q9P1R0	Missense_Mutation	SNP	ENST00000251020.4	37	c.1328G>A	CCDS10747.1	.	.	.	.	.	.	.	.	.	.	C	12.32	1.903024	0.33628	.	.	ENSG00000103449	ENST00000251020;ENST00000440970;ENST00000457559	T;T	0.06768	3.26;3.27	5.33	5.33	0.75918	.	0.037333	0.85682	D	0.000000	T	0.07458	0.0188	N	0.25647	0.755	0.51012	D	0.999905	B	0.17465	0.022	B	0.17433	0.018	T	0.19647	-1.0299	10	0.48119	T	0.1	.	12.3737	0.55269	0.0:0.9229:0.0:0.0771	.	540	Q9NSC2	SALL1_HUMAN	N	540;443;504	ENSP00000251020:S540N;ENSP00000407914:S443N	ENSP00000251020:S540N	S	-	2	0	SALL1	49732015	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.897000	0.63231	2.480000	0.83734	0.563000	0.77884	AGC		0.557	SALL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256883.2	NM_002968		11	31	0	0	0	1	0	11	31					T	51174514	C	T	51174514	3	4	378	1	0	0	0	0	1	0	0	0	13810	797	28	3	2363	3	SALL1	16	51174514	Missense_Mutation	SNP	C	TCGA-V1-A8WV-01A-11D-A377-08		51174514	39180239	36	18649											
ACTG1	71	broad.mit.edu	37	chr17	79479005	79479005	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgggtgctcctccggggccAcgcgcagctcgttgtagaag	5	8	15	13	4	0	1	0	0	0	1	3	1	2	1	3	3	2	5	3	3	2	2			TCGA-V1-A8WV-01A-11D-A377-08	TCGA-V1-A8WV-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb3d2a6b-9f91-4cc4-8f42-129e41672023	84819ecf-df76-4072-96dc-6a298f4b3b0c	g.chr17:79479005A>T	ENST00000575842.1	-	2	713	c.287T>A	c.(286-288)gTg>gAg	p.V96E	ACTG1_ENST00000331925.2_Missense_Mutation_p.V96E|ACTG1_ENST00000573283.1_Missense_Mutation_p.V96E|RP13-766D20.2_ENST00000430912.1_RNA|AC139149.1_ENST00000584254.1_RNA|ACTG1_ENST00000575087.1_Missense_Mutation_p.V96E			P63261	ACTG_HUMAN	actin, gamma 1	96					adherens junction organization (GO:0034332)|axon guidance (GO:0007411)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cellular component movement (GO:0006928)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane organization (GO:0061024)|platelet aggregation (GO:0070527)|retina homeostasis (GO:0001895)|sarcomere organization (GO:0045214)	blood microparticle (GO:0072562)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|membrane (GO:0016020)|myofibril (GO:0030016)|nucleus (GO:0005634)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|structural constituent of cytoskeleton (GO:0005200)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|lung(8)|ovary(2)|prostate(5)|urinary_tract(1)	29	all_neural(118;0.0878)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0547)			CTCCGGGGCCACGCGCAGCTC	0.627																																						ENST00000575842.1																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|lung(8)|ovary(2)|prostate(5)|urinary_tract(1)	29						c.(286-288)gTg>gAg		actin, gamma 1							52	57	55					17																	79479005		2202	4300	6502	SO:0001583	missense	71				adherens junction organization|axon guidance|blood coagulation|cell junction assembly|cellular component movement	cytoskeleton|cytosol	ATP binding|identical protein binding	g.chr17:79479005A>T		CCDS11782.1	17q25	2010-04-23	2004-05-19		ENSG00000184009	ENSG00000184009			144	protein-coding gene	gene with protein product		102560	"deafness, autosomal dominant 20; deafness, autosomal dominant 26"	ACTG, DFNA20, DFNA26		14684684	Standard	NM_001614		Approved		uc002kal.2	P63261		ENST00000575842.1:c.287T>A	17.37:g.79479005A>T	ENSP00000458162:p.Val96Glu					ACTG1_ENST00000575087.1_Missense_Mutation_p.V96E|ACTG1_ENST00000331925.2_Missense_Mutation_p.V96E|ACTG1_ENST00000573283.1_Missense_Mutation_p.V96E	p.V96E			P63261	ACTG_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0547)		2	713	-	all_neural(118;0.0878)|Melanoma(429;0.242)		96					A8K7C2|P02571|P14104|P99022|Q5U032|Q96E67	Missense_Mutation	SNP	ENST00000575842.1	37	c.287T>A	CCDS11782.1	.	.	.	.	.	.	.	.	.	.	A	11.93	1.784429	0.31593	.	.	ENSG00000184009	ENST00000331925;ENST00000447294	D	0.97620	-4.46	3.75	3.75	0.43078	.	0.000000	0.64402	D	0.000006	D	0.98801	0.9596	H	0.96048	3.76	0.52501	D	0.999953	D	0.58268	0.982	D	0.83275	0.996	D	0.99164	1.0862	10	0.87932	D	0	.	11.606	0.51033	1.0:0.0:0.0:0.0	.	96	P63261	ACTG_HUMAN	E	96	ENSP00000331514:V96E	ENSP00000331514:V96E	V	-	2	0	ACTG1	77093600	1.000000	0.71417	0.953000	0.39169	0.128000	0.20619	8.617000	0.90927	1.587000	0.49959	0.460000	0.39030	GTG		0.627	ACTG1-012	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439935.2	NM_001614		9	33	0	0	0	1	0	9	33					T	79479005	A	T	79479005	3	4	378	1	0	0	0	0	1	0	0	0	196	159	6	5	856	5	ACTG1	17	79479005	Missense_Mutation	SNP	A	TCGA-V1-A8WV-01A-11D-A377-08		79479005	1716205	37	18650											
MBD1	4152	broad.mit.edu	37	chr18	47806259	47806260	+	Frame_Shift_Ins	INS	-	-	A																															acccacccagtacctctggtINSaataggtgtctgagcgtcca																										TCGA-V1-A8WV-01A-11D-A377-08	TCGA-V1-A8WV-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb3d2a6b-9f91-4cc4-8f42-129e41672023	84819ecf-df76-4072-96dc-6a298f4b3b0c	g.chr18:47806259_47806260insA	ENST00000591416.1	-	2	534_535	c.103_104insT	c.(103-105)tacfs	p.Y35fs	MBD1_ENST00000457839.2_Frame_Shift_Ins_p.Y35fs|MBD1_ENST00000269471.5_Frame_Shift_Ins_p.Y35fs|MBD1_ENST00000269468.5_Frame_Shift_Ins_p.Y35fs|MBD1_ENST00000585595.1_Frame_Shift_Ins_p.Y35fs|MBD1_ENST00000398495.2_Frame_Shift_Ins_p.Y35fs|MBD1_ENST00000424334.2_Frame_Shift_Ins_p.Y61fs|MBD1_ENST00000347968.3_Frame_Shift_Ins_p.Y35fs|MBD1_ENST00000436910.1_Frame_Shift_Ins_p.Y35fs|MBD1_ENST00000349085.2_Frame_Shift_Ins_p.Y35fs|MBD1_ENST00000398493.1_Frame_Shift_Ins_p.Y35fs|MBD1_ENST00000353909.3_Frame_Shift_Ins_p.Y35fs|MBD1_ENST00000382948.5_Frame_Shift_Ins_p.Y35fs|MBD1_ENST00000588937.1_Frame_Shift_Ins_p.Y35fs|MBD1_ENST00000339998.6_Frame_Shift_Ins_p.Y35fs|MBD1_ENST00000590208.1_Frame_Shift_Ins_p.Y35fs|MBD1_ENST00000587605.1_Frame_Shift_Ins_p.Y35fs|MBD1_ENST00000585672.1_Frame_Shift_Ins_p.Y35fs|MBD1_ENST00000398488.1_Frame_Shift_Ins_p.Y35fs|MBD1_ENST00000591535.1_Frame_Shift_Ins_p.Y35fs			Q9UIS9	MBD1_HUMAN	methyl-CpG binding domain protein 1	35	MBD. {ECO:0000255|PROSITE- ProRule:PRU00338}.				negative regulation of transcription, DNA-templated (GO:0045892)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	DNA binding (GO:0003677)|methyl-CpG binding (GO:0008327)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36						GTACCTCTGGTAATAGGTGTCT	0.554																																						ENST00000591416.1																			0				breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36						c.(103-105)ccafs		methyl-CpG binding domain protein 1																																				SO:0001589	frameshift_variant	4152				negative regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|nuclear speck	methyl-CpG binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding	g.chr18:47806259_47806260insA	Y10746	CCDS11941.1, CCDS11942.1, CCDS11943.1, CCDS11944.1, CCDS32832.1, CCDS56071.1, CCDS56072.1, CCDS56073.1, CCDS59318.1, CCDS59319.1, CCDS59320.1	18q21	2014-02-18			ENSG00000141644	ENSG00000141644			6916	protein-coding gene	gene with protein product		156535				9207790, 10441743	Standard	NM_015844		Approved	PCM1, CXXC3	uc002lem.4	Q9UIS9	OTTHUMG00000132669	ENST00000591416.1:c.104dupT	18.37:g.47806261_47806261dupA	ENSP00000467017:p.Tyr35fs					MBD1_ENST00000587605.1_Frame_Shift_Ins_p.P35fs|MBD1_ENST00000382948.5_Frame_Shift_Ins_p.P35fs|MBD1_ENST00000353909.3_Frame_Shift_Ins_p.P35fs|MBD1_ENST00000349085.2_Frame_Shift_Ins_p.P35fs|MBD1_ENST00000347968.3_Frame_Shift_Ins_p.P35fs|MBD1_ENST00000398495.2_Frame_Shift_Ins_p.P35fs|MBD1_ENST00000269468.5_Frame_Shift_Ins_p.P35fs|MBD1_ENST00000269471.5_Frame_Shift_Ins_p.P35fs|MBD1_ENST00000585672.1_Frame_Shift_Ins_p.P35fs|MBD1_ENST00000585595.1_Frame_Shift_Ins_p.P35fs|MBD1_ENST00000457839.2_Frame_Shift_Ins_p.P35fs|MBD1_ENST00000436910.1_Frame_Shift_Ins_p.P35fs|MBD1_ENST00000424334.2_Frame_Shift_Ins_p.P61fs|MBD1_ENST00000398488.1_Frame_Shift_Ins_p.P35fs|MBD1_ENST00000398493.1_Frame_Shift_Ins_p.P35fs|MBD1_ENST00000590208.1_Frame_Shift_Ins_p.P35fs|MBD1_ENST00000591535.1_Frame_Shift_Ins_p.P35fs|MBD1_ENST00000339998.6_Frame_Shift_Ins_p.P35fs|MBD1_ENST00000588937.1_Frame_Shift_Ins_p.P35fs	p.P35fs			Q9UIS9	MBD1_HUMAN			2	534_535	-			35			MBD.		A4UTZ0|B4DXJ5|E9PEC5|K7ELI2|K7EQZ4|K7ESN0|O15248|O95241|Q7Z7B5|Q8N4W4|Q9UNZ6|Q9UNZ7|Q9UNZ8|Q9UNZ9	Frame_Shift_Ins	INS	ENST00000591416.1	37	c.103_104insT	CCDS11943.1																																																																																				0.554	MBD1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000255926.3	NM_015846		19	21						19	21	---	---	---	---	A	47806260	-	A	47806259	7	5	378	1	0	1	1	0	0	0	0	0	9342	1638	57	0	1967	0	MBD1	18	47806259	Frame_Shift_Ins	INS	-	TCGA-V1-A8WV-01A-11D-A377-08		47806259	30270989	38	18651											
DSEL	92126	broad.mit.edu	37	chr18	65180992	65180992	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aaacatactgtgtgacggatTtagctgtgtagcttccatag	11	13	10	7	1	0	1	0	1	0	0	1	2	1	2	1	1	4	3	1	1	5	6			TCGA-V1-A8WV-01A-11D-A377-08	TCGA-V1-A8WV-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb3d2a6b-9f91-4cc4-8f42-129e41672023	84819ecf-df76-4072-96dc-6a298f4b3b0c	g.chr18:65180992T>G	ENST00000310045.7	-	2	2357	c.884A>C	c.(883-885)aAa>aCa	p.K295T	CTD-2541J13.2_ENST00000583493.1_RNA|CTD-2541J13.2_ENST00000581951.1_RNA|RP11-638L3.1_ENST00000583687.1_lincRNA	NM_032160.2	NP_115536.1	Q8IZU8	DSEL_HUMAN	dermatan sulfate epimerase-like	285					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	isomerase activity (GO:0016853)|sulfotransferase activity (GO:0008146)			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(25)|lung(23)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)				TGTGACGGATTTAGCTGTGTA	0.398																																						ENST00000310045.7																			0				NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(25)|lung(23)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	74						c.(883-885)aAa>aCa		dermatan sulfate epimerase-like							86	87	87					18																	65180992		2203	4300	6503	SO:0001583	missense	92126					integral to membrane	isomerase activity|sulfotransferase activity	g.chr18:65180992T>G	AF480435	CCDS11995.1	18q22.1	2007-01-29	2007-01-29	2007-01-29	ENSG00000171451	ENSG00000171451			18144	protein-coding gene	gene with protein product		611125	"chromosome 18 open reading frame 4"	C18orf4		16505484	Standard	NM_032160		Approved	NCAG1, FLJ11477	uc002lke.1	Q8IZU8	OTTHUMG00000132804	ENST00000310045.7:c.884A>C	18.37:g.65180992T>G	ENSP00000310565:p.Lys295Thr					CTD-2541J13.2_ENST00000583493.1_RNA	p.K295T	NM_032160.2	NP_115536.1	Q8IZU8	DSEL_HUMAN			2	2357	-		Esophageal squamous(42;0.129)	285					Q17RH1|Q6P5Z3	Missense_Mutation	SNP	ENST00000310045.7	37	c.884A>C	CCDS11995.1	.	.	.	.	.	.	.	.	.	.	T	16.20	3.054795	0.55325	.	.	ENSG00000171451	ENST00000310045;ENST00000397964	T	0.23552	1.9	4.75	4.75	0.60458	.	0.000000	0.85682	U	0.000000	T	0.44265	0.1285	M	0.63428	1.95	0.44247	D	0.997094	D	0.69078	0.997	P	0.61397	0.888	T	0.34950	-0.9808	10	0.44086	T	0.13	.	14.5712	0.68213	0.0:0.0:0.0:1.0	.	285	Q8IZU8	DSEL_HUMAN	T	295;285	ENSP00000310565:K295T	ENSP00000310565:K295T	K	-	2	0	DSEL	63331972	1.000000	0.71417	0.994000	0.49952	0.919000	0.55068	4.991000	0.63883	1.922000	0.55676	0.459000	0.35465	AAA		0.398	DSEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256221.1	NM_032160		4	76	0	0	0	1	0	4	76					G	65180992	T	G	65180992	3	3	378	1	0	0	0	0	1	0	0	0	4775	1841	64	5	2788	5	DSEL	18	65180992	Missense_Mutation	SNP	T	TCGA-V1-A8WV-01A-11D-A377-08	17374733	65180992	12896256	39	18652											
ZNF816A	125893	broad.mit.edu	37	chr19	53453374	53453374	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aactctcgtatggtttgcaaGgcatgaatcactccggaaag	12	10	10	9	2	2	1	1	1	1	0	4	2	3	2	1	3	2	4	1	3	5	2			TCGA-V1-A8WV-01A-11D-A377-08	TCGA-V1-A8WV-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb3d2a6b-9f91-4cc4-8f42-129e41672023	84819ecf-df76-4072-96dc-6a298f4b3b0c	g.chr19:53453374G>A	ENST00000357666.4	-	5	1954	c.1654C>T	c.(1654-1656)Ctt>Ttt	p.L552F	ZNF816_ENST00000434371.2_Intron|ZNF816_ENST00000444460.2_Missense_Mutation_p.L552F|ZNF321P_ENST00000391777.3_Intron	NM_001031665.2	NP_001026835.1	Q0VGE8	ZN816_HUMAN	zinc finger protein 816	552					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(10)|lung(9)|stomach(1)|urinary_tract(2)	27						TGGTTTGCAAGGCATGAATCA	0.403																																						ENST00000357666.4																			0				central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(10)|lung(9)|stomach(1)|urinary_tract(2)	27						c.(1654-1656)Ctt>Ttt		zinc finger protein 816							83	84	84					19																	53453374		2203	4300	6503	SO:0001583	missense	125893				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53453374G>A	BC063805	CCDS33096.1	19q13.41	2013-01-08	2010-07-23	2010-07-23		ENSG00000180257		"Zinc fingers, C2H2-type", "-"	26995	protein-coding gene	gene with protein product			"zinc finger protein 816A"	ZNF816A			Standard	NM_001031665		Approved		uc002qam.2	Q0VGE8		ENST00000357666.4:c.1654C>T	19.37:g.53453374G>A	ENSP00000350295:p.Leu552Phe					ZNF816_ENST00000434371.2_Intron|ZNF321P_ENST00000391777.3_Intron|ZNF816_ENST00000444460.2_Missense_Mutation_p.L552F	p.L552F	NM_001031665.2	NP_001026835.1	Q0VGE8	ZN816_HUMAN			5	1954	-			552					A8K7H5|Q3KR39|Q659B3	Missense_Mutation	SNP	ENST00000357666.4	37	c.1654C>T	CCDS33096.1	.	.	.	.	.	.	.	.	.	.	-	11.61	1.689184	0.29962	.	.	ENSG00000180257	ENST00000357666;ENST00000444460	T;T	0.52057	0.68;0.68	1.79	0.678	0.17969	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.63896	0.2550	M	0.77406	2.37	0.09310	N	1	D	0.89917	1.0	D	0.97110	1.0	T	0.50701	-0.8797	9	0.54805	T	0.06	.	6.8209	0.23857	0.164:0.0:0.836:0.0	.	552	Q0VGE8	ZN816_HUMAN	F	552	ENSP00000350295:L552F;ENSP00000403266:L552F	ENSP00000350295:L552F	L	-	1	0	ZNF816	58145186	0.066000	0.20996	0.001000	0.08648	0.105000	0.19272	0.128000	0.15810	0.075000	0.16796	0.205000	0.17691	CTT		0.403	ZNF816-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396132.1	NM_001031665		14	88	0	0	0	1	0	14	88					A	53453374	G	A	53453374	3	1	378	1	0	0	0	0	1	0	0	0	18174	1000	35	3	305	3	ZNF816A	19	53453374	Missense_Mutation	SNP	G	TCGA-V1-A8WV-01A-11D-A377-08		53453374	5675609	40	18653											
MMP9	4318	broad.mit.edu	37	chr20	44644994	44644994	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacctatgacatcctgcagtGccctgaggactagggctccc	8	8	11	14	0	0	2	0	2	0	0	2	4	2	3	4	2	2	2	4	2	2	2			TCGA-V1-A8WV-01A-11D-A377-08	TCGA-V1-A8WV-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb3d2a6b-9f91-4cc4-8f42-129e41672023	84819ecf-df76-4072-96dc-6a298f4b3b0c	g.chr20:44644994G>T	ENST00000372330.3	+	13	2130	c.2111G>T	c.(2110-2112)tGc>tTc	p.C704F	RP11-465L10.10_ENST00000535913.1_RNA	NM_004994.2	NP_004985.2	P14780	MMP9_HUMAN	matrix metallopeptidase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase)	704					collagen catabolic process (GO:0030574)|embryo implantation (GO:0007566)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|leukocyte migration (GO:0050900)|macrophage differentiation (GO:0030225)|negative regulation of cation channel activity (GO:2001258)|ossification (GO:0001503)|positive regulation of apoptotic process (GO:0043065)|positive regulation of keratinocyte migration (GO:0051549)|positive regulation of receptor binding (GO:1900122)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	collagen binding (GO:0005518)|identical protein binding (GO:0042802)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(2)|endometrium(4)|large_intestine(14)|liver(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(3)	46		Myeloproliferative disorder(115;0.0122)			Captopril(DB01197)|Glucosamine(DB01296)|Marimastat(DB00786)|Minocycline(DB01017)	ATCCTGCAGTGCCCTGAGGAC	0.582																																						ENST00000372330.3																			0				breast(2)|endometrium(4)|large_intestine(14)|liver(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(3)	46						c.(2110-2112)tGc>tTc		matrix metallopeptidase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase)	Glucosamine(DB01296)|Marimastat(DB00786)|Minocycline(DB01017)|Simvastatin(DB00641)						122	90	101					20																	44644994		2203	4300	6503	SO:0001583	missense	4318				collagen catabolic process|macrophage differentiation|positive regulation of keratinocyte migration|proteolysis	extracellular space|proteinaceous extracellular matrix	collagen binding|metalloendopeptidase activity|zinc ion binding	g.chr20:44644994G>T		CCDS13390.1	20q12-q13	2008-01-07	2005-08-08		ENSG00000100985	ENSG00000100985	3.4.24.35		7176	protein-coding gene	gene with protein product		120361	"matrix metalloproteinase 9 (gelatinase B, 92kD gelatinase, 92kD type IV collagenase)", "matrix metalloproteinase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase)"	CLG4B		2158484	Standard	NM_004994		Approved		uc002xqz.3	P14780	OTTHUMG00000033044	ENST00000372330.3:c.2111G>T	20.37:g.44644994G>T	ENSP00000361405:p.Cys704Phe					RP11-465L10.10_ENST00000535913.1_RNA	p.C704F	NM_004994.2	NP_004985.2	P14780	MMP9_HUMAN			13	2130	+		Myeloproliferative disorder(115;0.0122)	704			Hemopexin-like 4.		B2R7V9|Q3LR70|Q8N725|Q9H4Z1|Q9UCJ9|Q9UCL1|Q9UDK2	Missense_Mutation	SNP	ENST00000372330.3	37	c.2111G>T	CCDS13390.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.159501	0.78226	.	.	ENSG00000100985	ENST00000372330;ENST00000545925	T	0.41400	1.0	5.12	4.16	0.48862	Hemopexin/matrixin (2);	0.050525	0.85682	N	0.000000	T	0.64114	0.2569	M	0.78456	2.415	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.68469	-0.5400	10	0.87932	D	0	.	12.7045	0.57054	0.0:0.0:0.834:0.166	.	704	P14780	MMP9_HUMAN	F	704;274	ENSP00000361405:C704F	ENSP00000361405:C704F	C	+	2	0	MMP9	44078401	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.936000	0.92931	1.113000	0.41760	0.650000	0.86243	TGC		0.582	MMP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080337.1			9	33	1	0	0.000274275	1	0.000279262	9	33					T	44644994	G	T	44644994	3	4	378	1	0	0	0	0	1	0	0	0	9669	1319	46	5	2161	5	MMP9	20	44644994	Missense_Mutation	SNP	G	TCGA-V1-A8WV-01A-11D-A377-08		44644994	18380526	41	18654											
NCOA5	57727	broad.mit.edu	37	chr20	44693760	44693760	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caaaaggagaacctcccctgCtaacatcctccaaggcttgt	12	8	7	14	0	0	1	0	0	0	1	3	2	3	1	5	2	3	2	5	2	5	2			TCGA-V1-A8WV-01A-11D-A377-08	TCGA-V1-A8WV-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb3d2a6b-9f91-4cc4-8f42-129e41672023	84819ecf-df76-4072-96dc-6a298f4b3b0c	g.chr20:44693760C>T	ENST00000290231.6	-	6	901	c.737G>A	c.(736-738)aGc>aAc	p.S246N		NM_020967.2	NP_066018.1	Q9HCD5	NCOA5_HUMAN	nuclear receptor coactivator 5	246					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	actin cytoskeleton (GO:0015629)|extracellular space (GO:0005615)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|skin(2)|urinary_tract(1)	21		Myeloproliferative disorder(115;0.0122)				ACCTCCCCTGCTAACATCCTC	0.527																																						ENST00000290231.6																			0				central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|skin(2)|urinary_tract(1)	21						c.(736-738)aGc>aAc		nuclear receptor coactivator 5							298	230	253					20																	44693760		2203	4300	6503	SO:0001583	missense	57727				regulation of transcription, DNA-dependent|transcription, DNA-dependent|translation	nucleus	aminoacyl-tRNA ligase activity|ATP binding	g.chr20:44693760C>T		CCDS13392.1	20q12-q13.12	2008-07-02			ENSG00000124160	ENSG00000124160			15909	protein-coding gene	gene with protein product	"coactivator independent of AF-2"					11780052, 11113208	Standard	XM_005260474		Approved	bA465L10.6, CIA	uc002xre.3	Q9HCD5	OTTHUMG00000032639	ENST00000290231.6:c.737G>A	20.37:g.44693760C>T	ENSP00000290231:p.Ser246Asn						p.S246N	NM_020967.2	NP_066018.1	Q9HCD5	NCOA5_HUMAN			6	901	-		Myeloproliferative disorder(115;0.0122)	246					B2RTV9|E1P5R0|Q6HA99|Q9H1F2|Q9H2T2|Q9H4Y9	Missense_Mutation	SNP	ENST00000290231.6	37	c.737G>A	CCDS13392.1	.	.	.	.	.	.	.	.	.	.	C	16.65	3.182978	0.57800	.	.	ENSG00000124160	ENST00000290231	T	0.48522	0.81	5.38	4.44	0.53790	Anticodon-binding (2);	0.268932	0.48767	N	0.000179	T	0.44350	0.1289	M	0.67397	2.05	0.46279	D	0.998966	B	0.02656	0.0	B	0.01281	0.0	T	0.42899	-0.9424	10	0.49607	T	0.09	-9.8741	8.9951	0.36048	0.0:0.774:0.1483:0.0777	.	246	Q9HCD5	NCOA5_HUMAN	N	246	ENSP00000290231:S246N	ENSP00000290231:S246N	S	-	2	0	NCOA5	44127167	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	4.744000	0.62118	1.503000	0.48686	0.462000	0.41574	AGC		0.527	NCOA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079559.1	NM_020967		21	75	0	0	0	1	0	21	75					T	44693760	C	T	44693760	3	4	378	1	0	0	0	0	1	0	0	0	10232	797	28	3	1014	3	NCOA5	20	44693760	Missense_Mutation	SNP	C	TCGA-V1-A8WV-01A-11D-A377-08	48766	44693760	18331760	42	18655											
CDH26	60437	broad.mit.edu	37	chr20	58567470	58567470	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acccagcaaattgggtcagcGtcgacaaaaactccggagtg	13	6	11	11	3	1	0	1	0	0	0	3	2	2	1	2	2	3	1	2	2	3	1	rs566034047		TCGA-V1-A8WV-01A-11D-A377-08	TCGA-V1-A8WV-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb3d2a6b-9f91-4cc4-8f42-129e41672023	84819ecf-df76-4072-96dc-6a298f4b3b0c	g.chr20:58567470G>A	ENST00000244047.5	+	10	1632	c.1321G>A	c.(1321-1323)Gtc>Atc	p.V441I	CDH26_ENST00000348616.4_Missense_Mutation_p.V441I			Q8IXH8	CAD26_HUMAN	cadherin 26	441	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(11)|lung(14)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	44	all_lung(29;0.00963)		BRCA - Breast invasive adenocarcinoma(7;5.58e-09)			TTGGGTCAGCGTCGACAAAAA	0.378																																						ENST00000348616.4																			0				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(11)|lung(14)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	44						c.(1321-1323)Gtc>Atc		cadherin 26							94	85	88					20																	58567470		2203	4300	6503	SO:0001583	missense	60437				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr20:58567470G>A	AF169690, AK055202	CCDS13485.1, CCDS13486.1	20q13.33	2010-01-26	2009-11-20		ENSG00000124215	ENSG00000124215		"Cadherins / Major cadherins"	15902	protein-coding gene	gene with protein product			"cadherin-like 26"				Standard	NM_177980		Approved	VR20	uc002ybe.3	Q8IXH8	OTTHUMG00000032874	ENST00000244047.5:c.1321G>A	20.37:g.58567470G>A	ENSP00000244047:p.Val441Ile					CDH26_ENST00000244047.5_Missense_Mutation_p.V441I	p.V441I	NM_177980.2	NP_817089.1	Q8IXH8	CAD26_HUMAN	BRCA - Breast invasive adenocarcinoma(7;5.58e-09)		10	1621	+	all_lung(29;0.00963)		441			Cadherin 4.		A2A2M5|B3KNX3|Q6P5Y6|Q8TCH3|Q9BQN4|Q9NRU1	Missense_Mutation	SNP	ENST00000244047.5	37	c.1321G>A		.	.	.	.	.	.	.	.	.	.	G	6.503	0.461025	0.12342	.	.	ENSG00000124215	ENST00000244047;ENST00000348616	T;T	0.54675	0.56;0.56	5.15	-0.5	0.12012	.	0.522640	0.18575	N	0.137213	T	0.22166	0.0534	N	0.12637	0.245	0.09310	N	1	B	0.23249	0.082	B	0.24006	0.05	T	0.24048	-1.0171	10	0.02654	T	1	.	2.8523	0.05561	0.1426:0.1223:0.4829:0.2522	.	441	Q8IXH8-4	.	I	441	ENSP00000244047:V441I;ENSP00000339390:V441I	ENSP00000244047:V441I	V	+	1	0	CDH26	58000865	0.161000	0.22892	0.000000	0.03702	0.003000	0.03518	0.726000	0.25984	-0.345000	0.08325	0.650000	0.86243	GTC		0.378	CDH26-201	KNOWN	basic	protein_coding	protein_coding		NM_177980		11	37	0	0	0	1	0	11	37					A	58567470	G	A	58567470	3	1	378	1	0	0	0	0	1	0	0	0	3110	1145	40	1	1359	1	CDH26	20	58567470	Missense_Mutation	SNP	G	TCGA-V1-A8WV-01A-11D-A377-08	13873710	58567470	4458050	43	18656											
DONSON	29980	broad.mit.edu	37	chr21	34951736	34951736	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atacagtactgcagagaaagAtccactctgtgaagatttga	15	10	9	7	0	1	5	0	2	1	3	2	6	2	5	1	0	3	2	1	0	4	3			TCGA-V1-A8WV-01A-11D-A377-08	TCGA-V1-A8WV-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb3d2a6b-9f91-4cc4-8f42-129e41672023	84819ecf-df76-4072-96dc-6a298f4b3b0c	g.chr21:34951736A>G	ENST00000303071.5	-	9	1549	c.1483T>C	c.(1483-1485)Tct>Cct	p.S495P	DONSON_ENST00000453626.1_Intron|DONSON_ENST00000303113.6_Missense_Mutation_p.S481P|DONSON_ENST00000432378.1_Intron	NM_017613.3	NP_060083.1	Q9NYP3	DONS_HUMAN	downstream neighbor of SON	495					multicellular organismal development (GO:0007275)	nucleus (GO:0005634)				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(1)|ovary(1)	11						GCAGAGAAAGATCCACTCTGT	0.428																																						ENST00000303071.5																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(1)|ovary(1)	11						c.(1483-1485)Tct>Cct		downstream neighbor of SON							148	133	139					21																	34951736		2203	4300	6503	SO:0001583	missense	29980				multicellular organismal development	nucleus		g.chr21:34951736A>G	AF000002	CCDS13632.1	21q22.1	2008-07-31			ENSG00000159147	ENSG00000159147			2993	protein-coding gene	gene with protein product		611428		C21orf60		10773462, 10950926	Standard	NM_017613		Approved	B17, C2TA, DKFZP434M035	uc002ysk.4	Q9NYP3	OTTHUMG00000065904	ENST00000303071.5:c.1483T>C	21.37:g.34951736A>G	ENSP00000307143:p.Ser495Pro					DONSON_ENST00000303113.6_Missense_Mutation_p.S481P|DONSON_ENST00000453626.1_Intron|DONSON_ENST00000432378.1_Intron	p.S495P	NM_017613.3	NP_060083.1	Q9NYP3	DONS_HUMAN			9	1549	-			495					Q8NC53|Q9NSR9|Q9NVZ5|Q9NYP1|Q9NYP2	Missense_Mutation	SNP	ENST00000303071.5	37	c.1483T>C	CCDS13632.1	.	.	.	.	.	.	.	.	.	.	A	16.25	3.071195	0.55646	.	.	ENSG00000159147	ENST00000303113;ENST00000303071	.	.	.	5.98	2.12	0.27331	.	0.320709	0.33144	N	0.005224	T	0.58935	0.2157	M	0.76574	2.34	0.19575	N	0.999969	D;D	0.56521	0.976;0.976	P;P	0.57057	0.812;0.812	T	0.53272	-0.8462	9	0.54805	T	0.06	-10.0452	9.9556	0.41663	0.4081:0.4767:0.0:0.1152	.	481;495	F8W8A5;Q9NYP3	.;DONS_HUMAN	P	481;495	.	ENSP00000307143:S495P	S	-	1	0	DONSON	33873606	0.041000	0.20044	0.591000	0.28745	0.642000	0.38348	0.294000	0.19047	0.113000	0.18004	-0.435000	0.05868	TCT		0.428	DONSON-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000141184.1	NM_017613		43	82	0	0	0	1	0	43	82					G	34951736	A	G	34951736	3	3	378	1	0	0	0	0	1	0	0	0	4706	333	12	4	225	4	DONSON	21	34951736	Missense_Mutation	SNP	A	TCGA-V1-A8WV-01A-11D-A377-08		34951736	13178159	44	18657											
IL17REL	400935	broad.mit.edu	37	chr22	50437763	50437763	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atccgcaccgcgtcaggggtCgcagaccagccctgtgggag	7	5	15	14	4	1	1	1	0	0	1	3	2	2	2	4	3	1	2	4	3	0	0	rs148168797		TCGA-V1-A8WV-01A-11D-A377-08	TCGA-V1-A8WV-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb3d2a6b-9f91-4cc4-8f42-129e41672023	84819ecf-df76-4072-96dc-6a298f4b3b0c	g.chr22:50437763C>T	ENST00000389983.2	-	9	822	c.558G>A	c.(556-558)gcG>gcA	p.A186A	IL17REL_ENST00000341280.5_Silent_p.A186A	NM_001001694.2	NP_001001694.2	Q6ZVW7	I17EL_HUMAN	interleukin 17 receptor E-like	186										endometrium(1)|large_intestine(1)|lung(3)|pancreas(1)	6		all_cancers(38;5.53e-07)|all_epithelial(38;3.84e-06)|all_lung(38;0.00208)|Breast(42;0.0104)|Lung NSC(38;0.0199)|Ovarian(80;0.0907)|Lung SC(80;0.236)		BRCA - Breast invasive adenocarcinoma(115;0.2)|LUAD - Lung adenocarcinoma(64;0.247)		CGTCAGGGGTCGCAGACCAGC	0.677																																						ENST00000389983.2																			0				endometrium(1)|large_intestine(1)|lung(3)|pancreas(1)	6						c.(556-558)gcG>gcA		interleukin 17 receptor E-like							57	59	59					22																	50437763		2203	4300	6503	SO:0001819	synonymous_variant	400935							g.chr22:50437763C>T	AK123987	CCDS33679.1	22q13.33	2009-01-13			ENSG00000188263	ENSG00000188263			33808	protein-coding gene	gene with protein product		613414					Standard	NM_001001694		Approved	FLJ41993	uc003bje.1	Q6ZVW7	OTTHUMG00000150242	ENST00000389983.2:c.558G>A	22.37:g.50437763C>T						IL17REL_ENST00000341280.5_Silent_p.A186A	p.A186A	NM_001001694.2	NP_001001694.2	Q6ZVW7	I17EL_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.2)|LUAD - Lung adenocarcinoma(64;0.247)	9	822	-		all_cancers(38;5.53e-07)|all_epithelial(38;3.84e-06)|all_lung(38;0.00208)|Breast(42;0.0104)|Lung NSC(38;0.0199)|Ovarian(80;0.0907)|Lung SC(80;0.236)	186					A6NCN4|A6PVC1	Silent	SNP	ENST00000389983.2	37	c.558G>A	CCDS33679.1																																																																																				0.677	IL17REL-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317011.1	NM_001001694		10	61	0	0	0	1	0	10	61					T	50437763	C	T	50437763	2	4	378	1	0	0	0	0	0	0	0	1	7644	871	31	2		2	IL17REL	22	50437763	Silent	SNP	C	TCGA-V1-A8WV-01A-11D-A377-08		50437763	866803	45	18658											
PLXNA3	55558	broad.mit.edu	37	chrX	153696269	153696269	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acaagcgcaagactcaggacGcggaccgtaccctcaagcgt	12	4	11	14	5	2	1	2	0	0	1	2	3	2	3	2	2	3	2	2	2	4	1			TCGA-V1-A8WV-01A-11D-A377-08	TCGA-V1-A8WV-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb3d2a6b-9f91-4cc4-8f42-129e41672023	84819ecf-df76-4072-96dc-6a298f4b3b0c	g.chrX:153696269G>A	ENST00000369682.3	+	21	3920	c.3745G>A	c.(3745-3747)Gcg>Acg	p.A1249T		NM_017514.3	NP_059984.3	P51805	PLXA3_HUMAN	plexin A3	1249					axon guidance (GO:0007411)|branchiomotor neuron axon guidance (GO:0021785)|facial nerve structural organization (GO:0021612)|hippocampus development (GO:0021766)|multicellular organismal development (GO:0007275)|negative chemotaxis (GO:0050919)|negative regulation of axon extension involved in axon guidance (GO:0048843)|positive regulation of cytoskeleton organization (GO:0051495)|pyramidal neuron development (GO:0021860)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|trigeminal nerve structural organization (GO:0021637)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	48	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GACTCAGGACGCGGACCGTAC	0.677																																						ENST00000369682.3																			0				breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	48						c.(3745-3747)Gcg>Acg		plexin A3							58	57	57					X																	153696269		2203	4300	6503	SO:0001583	missense	55558				axon guidance	integral to membrane|intracellular|plasma membrane	transmembrane receptor activity	g.chrX:153696269G>A	X74609	CCDS14752.1	Xq28	2008-02-05			ENSG00000130827	ENSG00000130827		"Plexins"	9101	protein-coding gene	gene with protein product		300022		PLXN4		8248200, 8733135	Standard	NM_017514		Approved	SEX, XAP-6, 6.3, Plxn3	uc004flm.3	P51805	OTTHUMG00000033290	ENST00000369682.3:c.3745G>A	X.37:g.153696269G>A	ENSP00000358696:p.Ala1249Thr						p.A1249T	NM_017514.3	NP_059984.2	P51805	PLXA3_HUMAN			21	3920	+	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)		1249					Q5HY36	Missense_Mutation	SNP	ENST00000369682.3	37	c.3745G>A	CCDS14752.1	.	.	.	.	.	.	.	.	.	.	G	17.03	3.285354	0.59867	.	.	ENSG00000130827	ENST00000369682	T	0.01145	5.27	4.57	4.57	0.56435	.	0.000000	0.85682	D	0.000000	T	0.02193	0.0068	M	0.77103	2.36	0.58432	D	0.999999	P	0.37636	0.603	B	0.30495	0.116	T	0.58070	-0.7701	10	0.36615	T	0.2	.	15.5445	0.76086	0.0:0.0:1.0:0.0	.	1249	P51805	PLXA3_HUMAN	T	1249	ENSP00000358696:A1249T	ENSP00000358696:A1249T	A	+	1	0	PLXNA3	153349463	0.999000	0.42202	0.932000	0.37286	0.810000	0.45777	4.670000	0.61583	1.998000	0.58463	0.436000	0.28706	GCG		0.677	PLXNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081634.1	NM_017514		12	13	0	0	0	1	0	12	13					A	153696269	G	A	153696269	3	1	378	1	0	0	0	0	1	0	0	0	12121	1087	38	1	3823	1	PLXNA3	23	153696269	Missense_Mutation	SNP	G	TCGA-V1-A8WV-01A-11D-A377-08		153696269	1574291	46	18659											
MTOR	2475	broad.mit.edu	37	chr1	11189830	11189830	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aggttgttgcctcgtgacaaGgagatggaacggaagaagcc	12	7	15	7	2	0	3	0	1	0	2	1	6	0	5	2	4	3	2	2	4	4	2			TCGA-V1-A8WW-01A-11D-A377-08	TCGA-V1-A8WW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	637ce92c-479a-4333-a272-a3bc97468267	362152fc-c864-446f-b73d-3bd9926755b8	g.chr1:11189830G>C	ENST00000361445.4	-	40	5755	c.5679C>G	c.(5677-5679)tcC>tcG	p.S1893S	MTOR_ENST00000376838.1_Silent_p.S98S|MTOR_ENST00000495435.1_5'Flank	NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN	mechanistic target of rapamycin (serine/threonine kinase)	1893	FAT. {ECO:0000255|PROSITE- ProRule:PRU00534}.				cell growth (GO:0016049)|cellular response to hypoxia (GO:0071456)|cellular response to nutrient levels (GO:0031669)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|germ cell development (GO:0007281)|growth (GO:0040007)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|negative regulation of autophagy (GO:0010507)|negative regulation of cell size (GO:0045792)|negative regulation of macroautophagy (GO:0016242)|negative regulation of NFAT protein import into nucleus (GO:0051534)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|phosphatidylinositol-mediated signaling (GO:0048015)|phosphorylation (GO:0016310)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of gene expression (GO:0010628)|positive regulation of lamellipodium assembly (GO:0010592)|positive regulation of lipid biosynthetic process (GO:0046889)|positive regulation of myotube differentiation (GO:0010831)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein catabolic process (GO:0030163)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of carbohydrate utilization (GO:0043610)|regulation of fatty acid beta-oxidation (GO:0031998)|regulation of glycogen biosynthetic process (GO:0005979)|regulation of protein kinase activity (GO:0045859)|regulation of Rac GTPase activity (GO:0032314)|regulation of response to food (GO:0032095)|response to amino acid (GO:0043200)|response to nutrient (GO:0007584)|response to stress (GO:0006950)|ruffle organization (GO:0031529)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endomembrane system (GO:0012505)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|phosphatidylinositol 3-kinase complex (GO:0005942)|PML body (GO:0016605)|TORC1 complex (GO:0031931)|TORC2 complex (GO:0031932)	ATP binding (GO:0005524)|drug binding (GO:0008144)|kinase activity (GO:0016301)|phosphoprotein binding (GO:0051219)|protein serine/threonine kinase activity (GO:0004674)|ribosome binding (GO:0043022)|RNA polymerase III type 1 promoter DNA binding (GO:0001030)|RNA polymerase III type 2 promoter DNA binding (GO:0001031)|RNA polymerase III type 3 promoter DNA binding (GO:0001032)|TFIIIC-class transcription factor binding (GO:0001156)			breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149					Everolimus(DB01590)|Pimecrolimus(DB00337)|Sirolimus(DB00877)|Temsirolimus(DB06287)	CTCGTGACAAGGAGATGGAAC	0.522																																						ENST00000361445.4																			0				breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149						c.(5677-5679)tcC>tcG		mechanistic target of rapamycin (serine/threonine kinase)							176	138	151					1																	11189830		2203	4300	6503	SO:0001819	synonymous_variant	2475				cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient|T cell costimulation|TOR signaling cascade	endoplasmic reticulum membrane|Golgi membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex|PML body|TORC1 complex|TORC2 complex	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity	g.chr1:11189830G>C	L34075	CCDS127.1	1p36	2014-09-17	2009-05-29	2009-05-29	ENSG00000198793	ENSG00000198793			3942	protein-coding gene	gene with protein product	"FK506 binding protein 12-rapamycin associated protein 2", "rapamycin target protein", "FKBP12-rapamycin complex-associated protein 1", "FKBP-rapamycin associated protein", "rapamycin associated protein FRAP2", "dJ576K7.1 (FK506 binding protein 12-rapamycin associated protein 1)", "rapamycin and FKBP12 target 1", "mammalian target of rapamycin"	601231	"FK506 binding protein 12-rapamycin associated protein 1"	FRAP, FRAP2, FRAP1		8008069, 8660990	Standard	NM_004958		Approved	RAFT1, RAPT1, FLJ44809	uc001asd.3	P42345	OTTHUMG00000002001	ENST00000361445.4:c.5679C>G	1.37:g.11189830G>C						MTOR_ENST00000376838.1_Silent_p.S98S	p.S1893S	NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN			40	5755	-			1893			FAT.		Q4LE76|Q5TER1|Q6LE87|Q96QG3|Q9Y4I3	Silent	SNP	ENST00000361445.4	37	c.5679C>G	CCDS127.1																																																																																				0.522	MTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005558.1	NM_004958		7	15	0	0	0	1	0	7	15					C	11189830	G	C	11189830	2	2	379	1	0	0	0	0	0	0	0	1	9954	987	35	5		5	MTOR	1	11189830	Silent	SNP	G	TCGA-V1-A8WW-01A-11D-A377-08		11189830	238060791	1	18660											
OBSCN	84033	broad.mit.edu	37	chr1	228481946	228481946	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgagctgagcaaggcggcacCggtggagtggaggaaggggc	9	4	21	7	2	0	2	0	2	0	0	0	5	0	5	1	8	2	3	1	8	2	0			TCGA-V1-A8WW-01A-11D-A377-08	TCGA-V1-A8WW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	637ce92c-479a-4333-a272-a3bc97468267	362152fc-c864-446f-b73d-3bd9926755b8	g.chr1:228481946C>T	ENST00000422127.1	+	42	11269	c.11225C>T	c.(11224-11226)cCg>cTg	p.P3742L	RP5-1139B12.4_ENST00000602778.1_RNA|OBSCN_ENST00000570156.2_Missense_Mutation_p.P4171L|OBSCN_ENST00000359599.6_Missense_Mutation_p.P2589L|OBSCN_ENST00000366707.4_Missense_Mutation_p.P861L|OBSCN_ENST00000284548.11_Missense_Mutation_p.P3742L|OBSCN_ENST00000366709.4_Missense_Mutation_p.P861L	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	3742	Ig-like 38.				apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				AAGGCGGCACCGGTGGAGTGG	0.622																																						ENST00000570156.2																			0				NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223						c.(12511-12513)cCg>cTg		obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF							144	150	148					1																	228481946		2130	4231	6361	SO:0001583	missense	84033				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	g.chr1:228481946C>T	AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"Rho guanine nucleotide exchange factors", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.11225C>T	1.37:g.228481946C>T	ENSP00000409493:p.Pro3742Leu					OBSCN_ENST00000359599.6_Missense_Mutation_p.P2589L|OBSCN_ENST00000366707.4_Missense_Mutation_p.P861L|OBSCN_ENST00000422127.1_Missense_Mutation_p.P3742L|OBSCN_ENST00000366709.4_Missense_Mutation_p.P861L|OBSCN_ENST00000284548.11_Missense_Mutation_p.P3742L	p.P4171L	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN			47	12586	+		Prostate(94;0.0405)	3214			Ig-like 43.		Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Missense_Mutation	SNP	ENST00000422127.1	37	c.12512C>T	CCDS58065.1	.	.	.	.	.	.	.	.	.	.	C	19.15	3.771689	0.69992	.	.	ENSG00000154358	ENST00000284548;ENST00000422127;ENST00000366707;ENST00000366709;ENST00000359599	T;T;T;T;T	0.67171	-0.25;-0.25;-0.25;-0.25;-0.25	4.83	4.83	0.62350	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.186371	0.34906	N	0.003596	T	0.76800	0.4038	M	0.67625	2.065	0.58432	D	0.999993	D;D	0.69078	0.992;0.997	P;P	0.61477	0.889;0.802	T	0.78339	-0.2242	10	0.56958	D	0.05	.	13.1804	0.59651	0.1595:0.8405:0.0:0.0	.	3742;3742	Q5VST9;Q5VST9-3	OBSCN_HUMAN;.	L	3742;3742;861;861;2589	ENSP00000284548:P3742L;ENSP00000409493:P3742L;ENSP00000355668:P861L;ENSP00000355670:P861L;ENSP00000352613:P2589L	ENSP00000284548:P3742L	P	+	2	0	OBSCN	226548569	0.003000	0.15002	0.940000	0.37924	0.122000	0.20287	1.390000	0.34464	2.531000	0.85337	0.508000	0.49915	CCG		0.622	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843		71	92	0	0	0	1	0	71	92					T	228481946	C	T	228481946	3	4	379	1	0	0	0	0	1	0	0	0	10812	652	23	2	11387	2	OBSCN	1	228481946	Missense_Mutation	SNP	C	TCGA-V1-A8WW-01A-11D-A377-08	217292116	228481946	20768675	2	18661											
LYST	1130	broad.mit.edu	37	chr1	235944227	235944227	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttctctgatttgttcacatcGcaaaatttctttattaatat	11	20	3	7	1	3	1	1	1	2	0	5	1	3	1	0	0	0	2	0	0	5	8			TCGA-V1-A8WW-01A-11D-A377-08	TCGA-V1-A8WW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	637ce92c-479a-4333-a272-a3bc97468267	362152fc-c864-446f-b73d-3bd9926755b8	g.chr1:235944227G>A	ENST00000389794.3	-	16	5326	c.5152C>T	c.(5152-5154)Cga>Tga	p.R1718*	LYST_ENST00000536965.1_3'UTR|LYST_ENST00000389793.2_Nonsense_Mutation_p.R1718*			Q99698	LYST_HUMAN	lysosomal trafficking regulator	1718					blood coagulation (GO:0007596)|defense response to bacterium (GO:0042742)|defense response to protozoan (GO:0042832)|defense response to virus (GO:0051607)|endosome to lysosome transport via multivesicular body sorting pathway (GO:0032510)|leukocyte chemotaxis (GO:0030595)|lysosome organization (GO:0007040)|mast cell secretory granule organization (GO:0033364)|melanosome organization (GO:0032438)|microtubule-based process (GO:0007017)|natural killer cell mediated cytotoxicity (GO:0042267)|neutrophil mediated immunity (GO:0002446)|phospholipid homeostasis (GO:0055091)|phospholipid metabolic process (GO:0006644)|pigmentation (GO:0043473)|positive regulation of natural killer cell activation (GO:0032816)|response to drug (GO:0042493)|secretion of lysosomal enzymes (GO:0033299)|T cell mediated immunity (GO:0002456)	cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)				NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			TGTTCACATCGCAAAATTTCT	0.294																																						ENST00000389794.3																			0				NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162						c.(5152-5154)Cga>Tga		lysosomal trafficking regulator							35	38	37					1																	235944227		2202	4300	6502	SO:0001587	stop_gained	1130				defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding	g.chr1:235944227G>A	U70064	CCDS31062.1	1q42.1-q42.2	2014-09-17	2004-12-09	2004-12-10	ENSG00000143669	ENSG00000143669		"WD repeat domain containing"	1968	protein-coding gene	gene with protein product		606897	"Chediak-Higashi syndrome 1"	CHS1		8717042, 8896560	Standard	NM_000081		Approved	CHS	uc001hxj.3	Q99698	OTTHUMG00000040527	ENST00000389794.3:c.5152C>T	1.37:g.235944227G>A	ENSP00000374444:p.Arg1718*					LYST_ENST00000389793.2_Nonsense_Mutation_p.R1718*|LYST_ENST00000536965.1_3'UTR	p.R1718*			Q99698	LYST_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.000674)		16	5326	-	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	1718					O43274|Q5T2U9|Q96TD7|Q96TD8|Q99709|Q9H133	Nonsense_Mutation	SNP	ENST00000389794.3	37	c.5152C>T	CCDS31062.1	.	.	.	.	.	.	.	.	.	.	G	45	12.019982	0.99627	.	.	ENSG00000143669	ENST00000389794;ENST00000389793	.	.	.	5.05	4.11	0.48088	.	0.354342	0.31872	N	0.006937	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.6163	0.56578	0.0:0.0:0.6889:0.3111	.	.	.	.	X	1718	.	ENSP00000374443:R1718X	R	-	1	2	LYST	234010850	0.998000	0.40836	0.850000	0.33497	0.976000	0.68499	2.716000	0.47219	1.193000	0.43086	0.467000	0.42956	CGA		0.294	LYST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097533.5			3	56	0	0	0	1	0	3	56					A	235944227	G	A	235944227	4	1	379	1	0	0	0	0	0	1	0	0	9128	1095	38	1	6405	1	LYST	1	235944227	Nonsense_Mutation	SNP	G	TCGA-V1-A8WW-01A-11D-A377-08	7462281	235944227	13306394	3	18662											
POMC	5443	broad.mit.edu	37	chr2	25383999	25383999	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgatggcgtttttgaacagcGtcaccaggggcgtctggctc	6	11	14	10	3	2	2	1	2	1	0	3	2	2	2	1	4	2	2	1	4	1	2			TCGA-V1-A8WW-01A-11D-A377-08	TCGA-V1-A8WW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	637ce92c-479a-4333-a272-a3bc97468267	362152fc-c864-446f-b73d-3bd9926755b8	g.chr2:25383999G>A	ENST00000405623.1	-	3	1210	c.755C>T	c.(754-756)aCg>aTg	p.T252M	POMC_ENST00000264708.3_Missense_Mutation_p.T252M|POMC_ENST00000395826.2_Missense_Mutation_p.T252M|POMC_ENST00000380794.1_Missense_Mutation_p.T252M|RP11-509E16.1_ENST00000567599.1_lincRNA			P01189	COLI_HUMAN	proopiomelanocortin	252					cell-cell signaling (GO:0007267)|cellular pigmentation (GO:0033059)|cellular protein metabolic process (GO:0044267)|generation of precursor metabolites and energy (GO:0006091)|glucose homeostasis (GO:0042593)|negative regulation of tumor necrosis factor production (GO:0032720)|neuropeptide signaling pathway (GO:0007218)|peptide hormone processing (GO:0016486)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of appetite (GO:0032098)|regulation of blood pressure (GO:0008217)|regulation of corticosterone secretion (GO:2000852)|regulation of glycogen metabolic process (GO:0070873)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|peroxisomal matrix (GO:0005782)|secretory granule (GO:0030141)|secretory granule lumen (GO:0034774)	G-protein coupled receptor binding (GO:0001664)|hormone activity (GO:0005179)|receptor binding (GO:0005102)|type 1 melanocortin receptor binding (GO:0070996)|type 3 melanocortin receptor binding (GO:0031781)|type 4 melanocortin receptor binding (GO:0031782)	p.T252M(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(5)|ovary(1)	12	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Loperamide(DB00836)	TTTGAACAGCGTCACCAGGGG	0.642																																					Colon(110;1515 1566 8452 10082 43216)	ENST00000405623.1																			1	Substitution - Missense(1)	p.T252M(1)	large_intestine(1)	central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(5)|ovary(1)	12						c.(754-756)aCg>aTg		proopiomelanocortin	Hydrocortisone(DB00741)|Loperamide(DB00836)|Trilostane(DB01108)						45	46	46					2																	25383999		2203	4300	6503	SO:0001583	missense	5443				cell-cell signaling|cellular nitrogen compound metabolic process|cellular pigmentation|generation of precursor metabolites and energy|hormone biosynthetic process|negative regulation of tumor necrosis factor production|neuropeptide signaling pathway|peptide hormone processing|positive regulation of transcription from RNA polymerase II promoter|regulation of appetite|regulation of blood pressure	extracellular space|stored secretory granule	hormone activity|type 1 melanocortin receptor binding|type 3 melanocortin receptor binding|type 4 melanocortin receptor binding	g.chr2:25383999G>A		CCDS1717.1	2p23	2013-02-25	2008-07-31		ENSG00000115138	ENSG00000115138		"Endogenous ligands"	9201	protein-coding gene	gene with protein product	"adrenocorticotropin", "beta-lipotropin", "alpha-melanocyte stimulating hormone", "beta-melanocyte stimulating hormone", "beta-endorphin", "adrenocorticotropic hormone", "opiomelanocortin prepropeptide"	176830				6254047, 9620771	Standard	NM_001035256		Approved	MSH, POC, CLIP, ACTH, NPP, LPH	uc002rfz.1	P01189	OTTHUMG00000094764	ENST00000405623.1:c.755C>T	2.37:g.25383999G>A	ENSP00000384092:p.Thr252Met					POMC_ENST00000380794.1_Missense_Mutation_p.T252M|POMC_ENST00000264708.3_Missense_Mutation_p.T252M|POMC_ENST00000395826.2_Missense_Mutation_p.T252M	p.T252M			P01189	COLI_HUMAN			3	1210	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		252					P78442|Q53T23|Q9UD39|Q9UD40	Missense_Mutation	SNP	ENST00000405623.1	37	c.755C>T	CCDS1717.1	.	.	.	.	.	.	.	.	.	.	G	19.48	3.835222	0.71373	.	.	ENSG00000115138	ENST00000380794;ENST00000405623;ENST00000264708;ENST00000395826	T;T;T;T	0.81247	-1.47;-1.47;-1.47;-1.47	5.15	5.15	0.70609	Opiodes neuropeptide (1);	0.051216	0.85682	D	0.000000	D	0.89719	0.6796	M	0.80332	2.49	0.58432	D	0.999998	D	0.76494	0.999	D	0.68483	0.958	D	0.91189	0.4982	10	0.87932	D	0	-15.7643	17.2122	0.86934	0.0:0.0:1.0:0.0	.	252	P01189	COLI_HUMAN	M	252	ENSP00000370171:T252M;ENSP00000384092:T252M;ENSP00000264708:T252M;ENSP00000379170:T252M	ENSP00000264708:T252M	T	-	2	0	POMC	25237503	1.000000	0.71417	1.000000	0.80357	0.889000	0.51656	4.019000	0.57181	2.409000	0.81822	0.561000	0.74099	ACG		0.642	POMC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211573.3	NM_001035256		10	46	0	0	0	1	0	10	46					A	25383999	G	A	25383999	3	1	379	1	0	0	0	0	1	0	0	0	12242	1145	40	1	52	1	POMC	2	25383999	Missense_Mutation	SNP	G	TCGA-V1-A8WW-01A-11D-A377-08		25383999	217815374	4	18663											
GIGYF2	26058	broad.mit.edu	37	chr2	233655742	233655742	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacagaaagagcctattccaGaagagcaggagatggacttc	15	7	11	8	0	0	5	0	0	0	5	2	7	1	6	2	2	3	1	2	2	4	4			TCGA-V1-A8WW-01A-11D-A377-08	TCGA-V1-A8WW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	637ce92c-479a-4333-a272-a3bc97468267	362152fc-c864-446f-b73d-3bd9926755b8	g.chr2:233655742G>T	ENST00000409547.1	+	13	1266	c.955G>T	c.(955-957)Gaa>Taa	p.E319*	GIGYF2_ENST00000373566.3_Nonsense_Mutation_p.E341*|GIGYF2_ENST00000409480.1_Nonsense_Mutation_p.E341*|GIGYF2_ENST00000452341.2_Nonsense_Mutation_p.E150*|GIGYF2_ENST00000409451.3_Nonsense_Mutation_p.E341*|GIGYF2_ENST00000373563.4_Nonsense_Mutation_p.E319*|GIGYF2_ENST00000409196.3_Nonsense_Mutation_p.E313*	NM_015575.3	NP_056390.2	Q6Y7W6	PERQ2_HUMAN	GRB10 interacting GYF protein 2	319					adult locomotory behavior (GO:0008344)|cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|feeding behavior (GO:0007631)|homeostasis of number of cells within a tissue (GO:0048873)|insulin-like growth factor receptor signaling pathway (GO:0048009)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|musculoskeletal movement (GO:0050881)|negative regulation of translation (GO:0017148)|neuromuscular process controlling balance (GO:0050885)|post-embryonic development (GO:0009791)|spinal cord motor neuron differentiation (GO:0021522)	membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(17)|lung(11)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	63		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145)		GCCTATTCCAGAAGAGCAGGA	0.448																																						ENST00000373566.3																			0				NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(17)|lung(11)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	63						c.(1021-1023)Gaa>Taa		GRB10 interacting GYF protein 2							63	67	66					2																	233655742		2203	4300	6503	SO:0001587	stop_gained	26058				cell death		protein binding	g.chr2:233655742G>T	U80751	CCDS33401.1, CCDS46542.1, CCDS46543.1	2q37.1	2011-07-06	2008-02-11	2008-02-11	ENSG00000204120	ENSG00000204120		"Trinucleotide (CAG) repeat containing"	11960	protein-coding gene	gene with protein product	"GYF domain containing 2"	612003	"PERQ amino acid rich, with GYF domain 2", "PERQ amino acid rich, with GYF domain 3", "trinucleotide repeat containing 15", "Parkinson disease (autosomal recessive, early onset) 11"	PERQ2, PERQ3, TNRC15, PARK11		9225980, 9734811, 12771153, 18358451, 19279319	Standard	NM_015575		Approved	KIAA0642, GYF2	uc002vtk.4	Q6Y7W6	OTTHUMG00000153237	ENST00000409547.1:c.955G>T	2.37:g.233655742G>T	ENSP00000386537:p.Glu319*					GIGYF2_ENST00000409451.3_Nonsense_Mutation_p.E341*|GIGYF2_ENST00000409196.3_Nonsense_Mutation_p.E313*|GIGYF2_ENST00000452341.2_Nonsense_Mutation_p.E150*|GIGYF2_ENST00000409480.1_Nonsense_Mutation_p.E341*|GIGYF2_ENST00000373563.4_Nonsense_Mutation_p.E319*|GIGYF2_ENST00000409547.1_Nonsense_Mutation_p.E319*	p.E341*			Q6Y7W6	PERQ2_HUMAN		Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145)	12	1218	+		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)	319					A6H8W4|B9EG55|E9PBB0|O75137|Q7Z2Z8|Q7Z3I2|Q96HU4|Q9NV82	Nonsense_Mutation	SNP	ENST00000409547.1	37	c.1021G>T	CCDS33401.1	.	.	.	.	.	.	.	.	.	.	G	33	5.219984	0.95139	.	.	ENSG00000204120	ENST00000373566;ENST00000414511;ENST00000373563;ENST00000409480;ENST00000409547;ENST00000535418;ENST00000423659;ENST00000409196;ENST00000409451;ENST00000440945;ENST00000424414;ENST00000452341;ENST00000427649;ENST00000410033	.	.	.	5.37	4.5	0.54988	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	-18.8738	14.0221	0.64563	0.0728:0.0:0.9272:0.0	.	.	.	.	X	341;262;319;341;319;319;262;313;341;313;71;150;71;101	.	ENSP00000362664:E319X	E	+	1	0	GIGYF2	233363986	1.000000	0.71417	0.997000	0.53966	0.967000	0.64934	9.512000	0.98008	1.271000	0.44313	-0.136000	0.14681	GAA		0.448	GIGYF2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000330316.2	NM_001103146		11	20	1	0	6.40141e-05	1	6.65747e-05	11	20					T	233655742	G	T	233655742	4	4	379	1	0	0	0	0	0	1	0	0	6378	943	33	5	1059	5	GIGYF2	2	233655742	Nonsense_Mutation	SNP	G	TCGA-V1-A8WW-01A-11D-A377-08	208271743	233655742	9543631	5	18664											
DGKD	8527	broad.mit.edu	37	chr2	234368918	234368918	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ctccatcctgttccctgcacCcggagatgctgtccgaggag	6	9	11	15	2	0	1	0	0	0	1	4	4	4	2	5	2	2	3	5	2	0	1			TCGA-V1-A8WW-01A-11D-A377-08	TCGA-V1-A8WW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	637ce92c-479a-4333-a272-a3bc97468267	362152fc-c864-446f-b73d-3bd9926755b8	g.chr2:234368918C>T	ENST00000264057.2	+	24	2920	c.2908C>T	c.(2908-2910)Ccg>Tcg	p.P970S	DGKD_ENST00000409813.3_Missense_Mutation_p.P926S	NM_152879.2	NP_690618.2	Q16760	DGKD_HUMAN	diacylglycerol kinase, delta 130kDa	970					blood coagulation (GO:0007596)|cell growth (GO:0016049)|diacylglycerol metabolic process (GO:0046339)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|multicellular organismal development (GO:0007275)|platelet activation (GO:0030168)|protein homooligomerization (GO:0051260)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein transport (GO:0015031)|response to organic substance (GO:0010033)|second-messenger-mediated signaling (GO:0019932)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol binding (GO:0019992)|diacylglycerol kinase activity (GO:0004143)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(13)|lung(15)|ovary(1)|pancreas(1)|skin(1)	38		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0538)		Epithelial(121;1.31e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000416)|Lung(119;0.00285)|LUSC - Lung squamous cell carcinoma(224;0.00655)	Phosphatidylserine(DB00144)	TTCCCTGCACCCGGAGATGCT	0.617																																						ENST00000264057.2																			0				central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(13)|lung(15)|ovary(1)|pancreas(1)|skin(1)	38						c.(2908-2910)Ccg>Tcg		diacylglycerol kinase, delta 130kDa	Phosphatidylserine(DB00144)						88	80	83					2																	234368918		2203	4300	6503	SO:0001583	missense	8527				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell growth|diacylglycerol metabolic process|endocytosis|epidermal growth factor receptor signaling pathway|multicellular organismal development|platelet activation|protein homooligomerization|protein transport|response to organic substance|second-messenger-mediated signaling	cytoplasm|cytoplasmic membrane-bounded vesicle|plasma membrane	ATP binding|diacylglycerol binding|diacylglycerol kinase activity|metal ion binding|protein heterodimerization activity|protein homodimerization activity	g.chr2:234368918C>T	D63479	CCDS2504.1, CCDS46546.1	2q37	2013-01-10	2002-08-29		ENSG00000077044	ENSG00000077044		"Sterile alpha motif (SAM) domain containing", "Pleckstrin homology (PH) domain containing"	2851	protein-coding gene	gene with protein product	"diglyceride kinase"	601826	"diacylglycerol kinase, delta (130kD)"			8626538, 12810723	Standard	NM_003648		Approved	KIAA0145, DGKdelta	uc002vui.1	Q16760	OTTHUMG00000133290	ENST00000264057.2:c.2908C>T	2.37:g.234368918C>T	ENSP00000264057:p.Pro970Ser					DGKD_ENST00000409813.3_Missense_Mutation_p.P926S	p.P970S	NM_152879.2	NP_690618.2	Q16760	DGKD_HUMAN		Epithelial(121;1.31e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000416)|Lung(119;0.00285)|LUSC - Lung squamous cell carcinoma(224;0.00655)	24	2920	+		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0538)	970					Q14158|Q6PK55|Q8NG53	Missense_Mutation	SNP	ENST00000264057.2	37	c.2908C>T	CCDS2504.1	.	.	.	.	.	.	.	.	.	.	C	0.438	-0.900109	0.02472	.	.	ENSG00000077044	ENST00000264057;ENST00000409813	T;T	0.79749	-1.14;-1.3	4.93	4.04	0.47022	.	0.220274	0.38217	N	0.001763	T	0.72859	0.3513	L	0.50919	1.6	0.38418	D	0.946115	B;B	0.25772	0.134;0.029	B;B	0.17098	0.017;0.017	T	0.69312	-0.5178	10	0.08837	T	0.75	.	15.7429	0.77914	0.0:0.863:0.137:0.0	.	926;970	Q16760-2;Q16760	.;DGKD_HUMAN	S	970;926	ENSP00000264057:P970S;ENSP00000386455:P926S	ENSP00000264057:P970S	P	+	1	0	DGKD	234033657	1.000000	0.71417	0.950000	0.38849	0.080000	0.17528	3.913000	0.56394	1.425000	0.47237	0.563000	0.77884	CCG		0.617	DGKD-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257072.2	NM_003648		11	18	0	0	0	1	0	11	18					T	234368918	C	T	234368918	3	4	379	1	0	0	0	0	1	0	0	0	4467	623	22	3	3026	3	DGKD	2	234368918	Missense_Mutation	SNP	C	TCGA-V1-A8WW-01A-11D-A377-08	713176	234368918	8830455	6	18665											
GLB1	2720	broad.mit.edu	37	chr3	33038803	33038803	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gccccgggctggccaatagcGgccaaggttaaagccattaa	11	6	12	12	2	0	0	0	0	0	0	0	0	0	0	5	4	2	2	5	4	6	3			TCGA-V1-A8WW-01A-11D-A377-08	TCGA-V1-A8WW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	637ce92c-479a-4333-a272-a3bc97468267	362152fc-c864-446f-b73d-3bd9926755b8	g.chr3:33038803G>A	ENST00000399402.3	-	16	1809	c.1678C>T	c.(1678-1680)Cgc>Tgc	p.R560C	GLB1_ENST00000307377.8_Missense_Mutation_p.R459C|GLB1_ENST00000307363.5_Missense_Mutation_p.R590C|GLB1_ENST00000445488.2_Missense_Mutation_p.R638C	NM_001079811.1	NP_001073279	P16278	BGAL_HUMAN	galactosidase, beta 1	590					carbohydrate metabolic process (GO:0005975)|galactose catabolic process (GO:0019388)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|glycosphingolipid metabolic process (GO:0006687)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)	beta-galactosidase activity (GO:0004565)|galactoside binding (GO:0016936)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	21		Melanoma(143;0.104)				GGCCAATAGCGGCCAAGGTTA	0.592																																						ENST00000307363.5																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	21	GRCh37	CM064027	GLB1	M		c.(1768-1770)Cgc>Tgc		galactosidase, beta 1							34	36	36					3																	33038803		1913	4118	6031	SO:0001583	missense	2720				carbohydrate metabolic process	lysosome|perinuclear region of cytoplasm	beta-galactosidase activity|cation binding|protein binding	g.chr3:33038803G>A	M22590	CCDS43061.1, CCDS43062.1, CCDS46785.1	3p22.3	2012-10-02			ENSG00000170266	ENSG00000170266	3.2.1.23		4298	protein-coding gene	gene with protein product		611458	"elastin receptor 1, 67kDa", "elastin receptor 1 (67kD)"	ELNR1		110522, 3143362	Standard	NM_000404		Approved	EBP	uc003cfi.1	P16278	OTTHUMG00000155781	ENST00000399402.3:c.1678C>T	3.37:g.33038803G>A	ENSP00000382333:p.Arg560Cys					GLB1_ENST00000307377.8_Missense_Mutation_p.R459C|GLB1_ENST00000445488.2_Missense_Mutation_p.R638C|GLB1_ENST00000399402.3_Missense_Mutation_p.R560C	p.R590C	NM_000404.2	NP_000395.2	P16278	BGAL_HUMAN			16	1912	-		Melanoma(143;0.104)	590		R -> C (in GM1G1).|R -> H (in GM1G2).			B2R7H8|B7Z6B0|P16279	Missense_Mutation	SNP	ENST00000399402.3	37	c.1768C>T	CCDS43062.1	.	.	.	.	.	.	.	.	.	.	G	32	5.178198	0.94846	.	.	ENSG00000170266	ENST00000399402;ENST00000307363;ENST00000445488;ENST00000307377	D;D;D;D	0.91894	-2.93;-2.93;-2.93;-2.93	5.31	5.31	0.75309	Galactose-binding domain-like (1);	0.000000	0.85682	D	0.000000	D	0.97346	0.9132	H	0.94925	3.6	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	D	0.98356	1.0546	10	0.87932	D	0	-16.2636	18.6222	0.91324	0.0:0.0:1.0:0.0	.	590;459;590;638	Q53G40;E7EQ29;P16278;B7Z6Q5	.;.;BGAL_HUMAN;.	C	560;590;638;459	ENSP00000382333:R560C;ENSP00000306920:R590C;ENSP00000393377:R638C;ENSP00000305920:R459C	ENSP00000306920:R590C	R	-	1	0	GLB1	33013807	1.000000	0.71417	0.971000	0.41717	0.983000	0.72400	7.637000	0.83313	2.496000	0.84212	0.456000	0.33151	CGC		0.592	GLB1-002	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000341570.2	NM_000404		14	21	0	0	0	1	0	14	21					A	33038803	G	A	33038803	3	1	379	1	0	0	0	0	1	0	0	0	6427	1116	39	2	269	2	GLB1	3	33038803	Missense_Mutation	SNP	G	TCGA-V1-A8WW-01A-11D-A377-08		33038803	164983627	7	18666											
ANK2	287	broad.mit.edu	37	chr4	114280141	114280141	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tacatcttcctgcaggggggGcacgagccccacaaaagaaa	13	5	11	12	1	1	1	0	0	1	1	2	2	2	1	3	3	3	2	3	3	4	2			TCGA-V1-A8WW-01A-11D-A377-08	TCGA-V1-A8WW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	637ce92c-479a-4333-a272-a3bc97468267	362152fc-c864-446f-b73d-3bd9926755b8	g.chr4:114280141G>A	ENST00000357077.4	+	38	10420	c.10367G>A	c.(10366-10368)gGc>gAc	p.G3456D	ANK2_ENST00000264366.6_Missense_Mutation_p.G3423D|ANK2_ENST00000394537.3_Intron|ANK2_ENST00000510275.2_Intron|ANK2_ENST00000506722.1_Intron|ANK2_ENST00000509550.1_Intron	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	3456					atrial cardiac muscle cell action potential (GO:0086014)|atrial cardiac muscle cell to AV node cell communication (GO:0086066)|atrial septum development (GO:0003283)|axon guidance (GO:0007411)|cardiac muscle contraction (GO:0060048)|cellular calcium ion homeostasis (GO:0006874)|cellular protein localization (GO:0034613)|membrane depolarization during SA node cell action potential (GO:0086046)|paranodal junction assembly (GO:0030913)|positive regulation of calcium ion transmembrane transporter activity (GO:1901021)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cation channel activity (GO:2001259)|positive regulation of gene expression (GO:0010628)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein localization to cell surface (GO:0034394)|protein localization to endoplasmic reticulum (GO:0070972)|protein localization to M-band (GO:0036309)|protein localization to organelle (GO:0033365)|protein localization to plasma membrane (GO:0072659)|protein localization to T-tubule (GO:0036371)|protein stabilization (GO:0050821)|protein targeting to plasma membrane (GO:0072661)|regulation of calcium ion transmembrane transporter activity (GO:1901019)|regulation of calcium ion transport (GO:0051924)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to methylmercury (GO:0051597)|SA node cell action potential (GO:0086015)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|T-tubule organization (GO:0033292)|ventricular cardiac muscle cell action potential (GO:0086005)	A band (GO:0031672)|basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intracellular (GO:0005622)|M band (GO:0031430)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|potassium channel regulator activity (GO:0015459)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		TGCAGGGGGGGCACGAGCCCC	0.438																																						ENST00000357077.4																			0				NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248						c.(10366-10368)gGc>gAc		ankyrin 2, neuronal							50	56	54					4																	114280141		2201	4297	6498	SO:0001583	missense	287				axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding	g.chr4:114280141G>A	M37123	CCDS3702.1, CCDS43261.1, CCDS54796.1	4q25-q26	2014-09-17	2003-03-12		ENSG00000145362	ENSG00000145362		"Ankyrin repeat domain containing"	493	protein-coding gene	gene with protein product		106410	"long (electrocardiographic) QT syndrome 4"	LQT4		7485162, 12571597	Standard	NM_001148		Approved		uc003ibe.4	Q01484	OTTHUMG00000132912	ENST00000357077.4:c.10367G>A	4.37:g.114280141G>A	ENSP00000349588:p.Gly3456Asp					ANK2_ENST00000509550.1_Intron|ANK2_ENST00000506722.1_Intron|ANK2_ENST00000510275.2_Intron|ANK2_ENST00000394537.3_Intron|ANK2_ENST00000264366.6_Missense_Mutation_p.G3423D	p.G3456D	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)	38	10420	+		Ovarian(17;0.0448)|Hepatocellular(203;0.218)	3423					Q01485|Q08AC7|Q08AC8|Q7Z3L5	Missense_Mutation	SNP	ENST00000357077.4	37	c.10367G>A	CCDS3702.1	.	.	.	.	.	.	.	.	.	.	g	0.070	-1.203807	0.01581	.	.	ENSG00000145362	ENST00000357077;ENST00000264366;ENST00000505342	T;T;D	0.95788	-0.15;-0.17;-3.81	5.48	-1.63	0.08345	.	0.745082	0.12057	N	0.503481	D	0.87589	0.6215	N	0.16478	0.41	0.09310	N	0.999999	B;B	0.02656	0.0;0.0	B;B	0.08055	0.0;0.003	T	0.77507	-0.2562	10	0.52906	T	0.07	.	4.639	0.12540	0.156:0.5392:0.1458:0.159	.	3423;3456	Q01484;Q01484-4	ANK2_HUMAN;.	D	3456;3423;466	ENSP00000349588:G3456D;ENSP00000264366:G3423D;ENSP00000422498:G466D	ENSP00000264366:G3423D	G	+	2	0	ANK2	114499590	0.038000	0.19896	0.000000	0.03702	0.129000	0.20672	0.796000	0.26986	-0.143000	0.11334	-0.127000	0.14921	GGC		0.438	ANK2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256422.2	NM_001148		9	26	0	0	0	1	0	9	26					A	114280141	G	A	114280141	3	1	379	1	0	0	0	0	1	0	0	0	621	1203	42	3	10582	3	ANK2	4	114280141	Missense_Mutation	SNP	G	TCGA-V1-A8WW-01A-11D-A377-08		114280141	76874135	8	18667											
ITGA1	3672	broad.mit.edu	37	chr5	52211329	52211329	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggggatggtaagacactgaaAttttttggccagtctatcca	11	12	11	7	0	1	2	0	1	1	1	2	3	2	3	2	4	0	1	2	4	3	5	rs199962878		TCGA-V1-A8WW-01A-11D-A377-08	TCGA-V1-A8WW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	637ce92c-479a-4333-a272-a3bc97468267	362152fc-c864-446f-b73d-3bd9926755b8	g.chr5:52211329A>T	ENST00000282588.6	+	15	2351	c.1893A>T	c.(1891-1893)aaA>aaT	p.K631N		NM_181501.1	NP_852478.1	P56199	ITA1_HUMAN	integrin, alpha 1	631					activation of MAPK activity (GO:0000187)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|cellular extravasation (GO:0045123)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|muscle contraction (GO:0006936)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|neutrophil chemotaxis (GO:0030593)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|vasodilation (GO:0042311)	acrosomal vesicle (GO:0001669)|basal part of cell (GO:0045178)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integrin alpha1-beta1 complex (GO:0034665)|integrin complex (GO:0008305)|membrane (GO:0016020)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)	collagen binding (GO:0005518)|collagen binding involved in cell-matrix adhesion (GO:0098639)|metal ion binding (GO:0046872)|protein phosphatase binding (GO:0019903)			NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(19)|ovary(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Lung NSC(810;5.05e-05)|Breast(144;0.0851)				AGACACTGAAATTTTTTGGCC	0.423																																						ENST00000282588.6																			0				NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(19)|ovary(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						c.(1891-1893)aaA>aaT		integrin, alpha 1							172	172	172					5																	52211329		2203	4300	6503	SO:0001583	missense	3672				axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|muscle contraction	integrin complex	collagen binding|receptor activity	g.chr5:52211329A>T	X68742	CCDS3955.1	5q11.1	2010-03-23			ENSG00000213949	ENSG00000213949		"CD molecules", "Integrins"	6134	protein-coding gene	gene with protein product		192968				8428973, 11937138	Standard	NM_181501		Approved	VLA1, CD49a	uc003jou.3	P56199	OTTHUMG00000131163	ENST00000282588.6:c.1893A>T	5.37:g.52211329A>T	ENSP00000282588:p.Lys631Asn						p.K631N	NM_181501.1	NP_852478.1	P56199	ITA1_HUMAN			15	2351	+		Lung NSC(810;5.05e-05)|Breast(144;0.0851)	631					B2RNU0	Missense_Mutation	SNP	ENST00000282588.6	37	c.1893A>T	CCDS3955.1	.	.	.	.	.	.	.	.	.	.	A	21.0	4.087949	0.76642	.	.	ENSG00000213949	ENST00000282588	T	0.55760	0.5	5.53	-0.868	0.10652	.	0.045906	0.85682	D	0.000000	T	0.43919	0.1269	L	0.45352	1.415	0.51767	D	0.999931	P	0.48640	0.913	P	0.45037	0.467	T	0.40421	-0.9564	10	0.62326	D	0.03	.	9.7755	0.40616	0.6306:0.0:0.3694:0.0	.	631	P56199	ITA1_HUMAN	N	631	ENSP00000282588:K631N	ENSP00000282588:K631N	K	+	3	2	ITGA1	52247086	0.999000	0.42202	0.998000	0.56505	0.998000	0.95712	0.821000	0.27338	-0.079000	0.12707	0.528000	0.53228	AAA		0.423	ITGA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253855.3	NM_181501		9	91	0	0	0	1	0	9	91					T	52211329	A	T	52211329	3	4	379	1	0	0	0	0	1	0	0	0	7872	98	4	5	1951	5	ITGA1	5	52211329	Missense_Mutation	SNP	A	TCGA-V1-A8WW-01A-11D-A377-08		52211329	128703931	9	18668											
C6orf145	221749	broad.mit.edu	37	chr6	3727804	3727804	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caaatgctctgttgggtccaCgcccagctgctggtctcttc	5	12	10	14	1	2	0	0	0	2	0	5	0	3	0	2	2	3	4	2	2	1	2			TCGA-V1-A8WW-01A-11D-A377-08	TCGA-V1-A8WW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	637ce92c-479a-4333-a272-a3bc97468267	362152fc-c864-446f-b73d-3bd9926755b8	g.chr6:3727804C>T	ENST00000380283.4	-	4	1053	c.559G>A	c.(559-561)Gtg>Atg	p.V187M	PXDC1_ENST00000477592.2_5'UTR	NM_183373.3	NP_899229.2	Q5TGL8	PXDC1_HUMAN	PX domain containing 1	187							phosphatidylinositol binding (GO:0035091)										GTTGGGTCCACGCCCAGCTGC	0.428																																						ENST00000380283.4																			0											c.(559-561)Gtg>Atg		PX domain containing 1							122	112	115					6																	3727804		2203	4300	6503	SO:0001583	missense	221749				cell communication		phosphatidylinositol binding	g.chr6:3727804C>T	AJ420534	CCDS4486.1	6p25.1	2011-11-25	2011-11-25	2011-11-25	ENSG00000168994	ENSG00000168994			21361	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 145"	C6orf145			Standard	NM_183373		Approved		uc003mvt.2	Q5TGL8	OTTHUMG00000014146	ENST00000380283.4:c.559G>A	6.37:g.3727804C>T	ENSP00000369636:p.Val187Met					PXDC1_ENST00000477592.2_5'UTR	p.V187M	NM_183373.3	NP_899229.2	Q5TGL8	CF145_HUMAN			4	1053	-			187					A8K0N3|Q6PGP0|Q86XB7	Missense_Mutation	SNP	ENST00000380283.4	37	c.559G>A	CCDS4486.1	.	.	.	.	.	.	.	.	.	.	C	13.80	2.344329	0.41498	.	.	ENSG00000168994	ENST00000380283	T	0.35048	1.33	5.41	3.64	0.41730	.	0.360024	0.31772	N	0.007092	T	0.13286	0.0322	L	0.40543	1.245	0.25272	N	0.989502	B	0.12630	0.006	B	0.08055	0.003	T	0.19484	-1.0304	10	0.62326	D	0.03	-14.4166	10.4036	0.44243	0.1321:0.7959:0.0:0.0719	.	187	Q5TGL8	CF145_HUMAN	M	187	ENSP00000369636:V187M	ENSP00000369636:V187M	V	-	1	0	C6orf145	3672803	0.298000	0.24417	0.102000	0.21198	0.250000	0.25880	2.172000	0.42463	0.635000	0.30488	-0.205000	0.12727	GTG		0.428	PXDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039688.1	NM_183373		10	34	0	0	0	1	0	10	34					T	3727804	C	T	3727804	3	4	379	1	0	0	0	0	1	0	0	0	2334	536	19	1	144	1	C6orf145	6	3727804	Missense_Mutation	SNP	C	TCGA-V1-A8WW-01A-11D-A377-08		3727804	167387263	10	18669											
CD83	9308	broad.mit.edu	37	chr6	14131839	14131839	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcagaaggggcaaaatggttCtttcgacgcccccaatgaaa	13	8	10	10	2	2	2	1	1	1	1	3	3	2	2	2	3	0	2	2	3	5	2			TCGA-V1-A8WW-01A-11D-A377-08	TCGA-V1-A8WW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	637ce92c-479a-4333-a272-a3bc97468267	362152fc-c864-446f-b73d-3bd9926755b8	g.chr6:14131839C>A	ENST00000379153.3	+	3	413	c.242C>A	c.(241-243)tCt>tAt	p.S81Y		NM_001040280.1|NM_001251901.1|NM_004233.3	NP_001035370.1|NP_001238830.1|NP_004224.1	Q01151	CD83_HUMAN	CD83 molecule	81	Ig-like V-type.				defense response (GO:0006952)|humoral immune response (GO:0006959)|negative regulation of interleukin-4 production (GO:0032713)|positive regulation of CD4-positive, alpha-beta T cell differentiation (GO:0043372)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-2 production (GO:0032743)|response to organic cyclic compound (GO:0014070)|signal transduction (GO:0007165)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)	12	Breast(50;0.00245)|Ovarian(93;0.137)	all_hematologic(90;0.117)				CAAAATGGTTCTTTCGACGCC	0.547																																						ENST00000379153.3																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)	12						c.(241-243)tCt>tAt		CD83 molecule							128	118	121					6																	14131839		2203	4300	6503	SO:0001583	missense	9308				defense response|humoral immune response|signal transduction	integral to plasma membrane		g.chr6:14131839C>A	Z11697	CCDS4532.1, CCDS75403.1	6p23	2013-01-11	2006-03-31		ENSG00000112149	ENSG00000112149		"CD molecules", "Immunoglobulin superfamily / V-set domain containing"	1703	protein-coding gene	gene with protein product		604534	"CD83 antigen (activated B lymphocytes, immunoglobulin superfamily)", "CD83 molecule "			1378080, 8422464	Standard	NM_001251901		Approved	HB15, BL11	uc003nbi.3	Q01151	OTTHUMG00000014283	ENST00000379153.3:c.242C>A	6.37:g.14131839C>A	ENSP00000368450:p.Ser81Tyr						p.S81Y	NM_001040280.1|NM_001251901.1|NM_004233.3	NP_001035370.1|NP_001238830.1|NP_004224.1	Q01151	CD83_HUMAN			3	413	+	Breast(50;0.00245)|Ovarian(93;0.137)	all_hematologic(90;0.117)	81			Ig-like V-type.		Q5THX9	Missense_Mutation	SNP	ENST00000379153.3	37	c.242C>A	CCDS4532.1	.	.	.	.	.	.	.	.	.	.	C	17.56	3.419834	0.62622	.	.	ENSG00000112149	ENST00000379153	T	0.67345	-0.26	5.39	5.39	0.77823	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.580155	0.17684	N	0.165503	T	0.73892	0.3645	M	0.66939	2.045	0.09310	N	1	D	0.76494	0.999	D	0.69824	0.966	T	0.68250	-0.5458	10	0.87932	D	0	0.8164	15.0038	0.71495	0.0:1.0:0.0:0.0	.	81	Q01151	CD83_HUMAN	Y	81	ENSP00000368450:S81Y	ENSP00000368450:S81Y	S	+	2	0	CD83	14239818	0.050000	0.20438	0.009000	0.14445	0.006000	0.05464	2.352000	0.44080	2.696000	0.92011	0.655000	0.94253	TCT		0.547	CD83-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039916.1			16	31	1	0	3.45872e-05	1	3.74694e-05	16	31					A	14131839	C	A	14131839	3	1	379	1	0	0	0	0	1	0	0	0	3041	913	32	5	252	5	CD83	6	14131839	Missense_Mutation	SNP	C	TCGA-V1-A8WW-01A-11D-A377-08	10404035	14131839	156983228	11	18670											
UHRF1BP1	54887	broad.mit.edu	37	chr6	34835110	34835110	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tggccaggggtcaccagcagCcaacagttcagtttcaccca	10	7	10	14	0	3	0	3	0	0	0	3	0	3	0	4	3	3	3	4	3	1	2			TCGA-V1-A8WW-01A-11D-A377-08	TCGA-V1-A8WW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	637ce92c-479a-4333-a272-a3bc97468267	362152fc-c864-446f-b73d-3bd9926755b8	g.chr6:34835110C>T	ENST00000192788.5	+	16	3692	c.3521C>T	c.(3520-3522)gCc>gTc	p.A1174V	UHRF1BP1_ENST00000452449.2_Missense_Mutation_p.A1174V	NM_017754.3	NP_060224.3	Q6BDS2	URFB1_HUMAN	UHRF1 binding protein 1	1174							histone deacetylase binding (GO:0042826)|identical protein binding (GO:0042802)			breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(24)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	54						TCACCAGCAGCCAACAGTTCA	0.507																																						ENST00000192788.5																			0				breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(24)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	54						c.(3520-3522)gCc>gTc		UHRF1 binding protein 1							97	96	97					6																	34835110		1921	4114	6035	SO:0001583	missense	54887							g.chr6:34835110C>T	AB126777	CCDS43455.1	6p21.31	2008-10-28	2008-08-15	2007-11-27	ENSG00000065060	ENSG00000065060			21216	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 107"	C6orf107			Standard	NM_017754		Approved	FLJ20302, dJ349A12.1, ICBP90	uc003oju.4	Q6BDS2	OTTHUMG00000014557	ENST00000192788.5:c.3521C>T	6.37:g.34835110C>T	ENSP00000192788:p.Ala1174Val					UHRF1BP1_ENST00000452449.2_Missense_Mutation_p.A1174V	p.A1174V	NM_017754.3	NP_060224.3	Q6BDS2	URFB1_HUMAN			16	3692	+			1174					Q9NXE0	Missense_Mutation	SNP	ENST00000192788.5	37	c.3521C>T	CCDS43455.1	.	.	.	.	.	.	.	.	.	.	C	11.88	1.769789	0.31320	.	.	ENSG00000065060	ENST00000192788;ENST00000452449	T;T	0.08102	3.14;3.13	5.23	4.12	0.48240	.	0.284712	0.34580	N	0.003860	T	0.01189	0.0039	N	0.05383	-0.06	0.21416	N	0.999693	B	0.02656	0.0	B	0.04013	0.001	T	0.49133	-0.8971	10	0.25751	T	0.34	-7.3752	4.4413	0.11575	0.0:0.7542:0.0:0.2458	.	1174	Q6BDS2	URFB1_HUMAN	V	1174	ENSP00000192788:A1174V;ENSP00000400628:A1174V	ENSP00000192788:A1174V	A	+	2	0	UHRF1BP1	34943088	1.000000	0.71417	0.972000	0.41901	0.680000	0.39746	3.045000	0.49838	2.593000	0.87608	0.655000	0.94253	GCC		0.507	UHRF1BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040260.1	NM_017754		8	65	0	0	0	1	0	8	65					T	34835110	C	T	34835110	3	4	379	1	0	0	0	0	1	0	0	0	16965	739	26	3	3583	3	UHRF1BP1	6	34835110	Missense_Mutation	SNP	C	TCGA-V1-A8WW-01A-11D-A377-08	20703271	34835110	136279957	12	18671											
MUC17	140453	broad.mit.edu	37	chr7	100678493	100678493	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctcctacaaccgctgaaggtAccagcttgccaacctcaact	11	8	6	16	1	1	1	1	1	0	0	2	1	2	1	5	1	7	3	5	1	6	3			TCGA-V1-A8WW-01A-11D-A377-08	TCGA-V1-A8WW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	637ce92c-479a-4333-a272-a3bc97468267	362152fc-c864-446f-b73d-3bd9926755b8	g.chr7:100678493A>T	ENST00000306151.4	+	3	3860	c.3796A>T	c.(3796-3798)Acc>Tcc	p.T1266S		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1266	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CGCTGAAGGTACCAGCTTGCC	0.507																																						ENST00000306151.4																			0				NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343						c.(3796-3798)Acc>Tcc		mucin 17, cell surface associated							286	275	279					7																	100678493		2203	4300	6503	SO:0001583	missense	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100678493A>T	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"Mucins"	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.3796A>T	7.37:g.100678493A>T	ENSP00000302716:p.Thr1266Ser						p.T1266S	NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN			3	3860	+	Lung NSC(181;0.136)|all_lung(186;0.182)		1266			59 X approximate tandem repeats.|Ser-rich.		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	c.3796A>T	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	A	0.022	-1.416858	0.01136	.	.	ENSG00000169876	ENST00000306151	T	0.02323	4.34	0.0465	-0.093	0.13652	.	.	.	.	.	T	0.01523	0.0049	N	0.14661	0.345	0.09310	N	1	B	0.18461	0.028	B	0.09377	0.004	T	0.48917	-0.8992	8	0.27082	T	0.32	.	.	.	.	.	1266	Q685J3	MUC17_HUMAN	S	1266	ENSP00000302716:T1266S	ENSP00000302716:T1266S	T	+	1	0	MUC17	100465213	0.000000	0.05858	0.002000	0.10522	0.005000	0.04900	-0.316000	0.08071	-1.569000	0.01668	-1.601000	0.00813	ACC		0.507	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		112	311	0	0	0	1	0	112	311					T	100678493	A	T	100678493	3	4	379	1	0	0	0	0	1	0	0	0	9974	391	14	5	3806	5	MUC17	7	100678493	Missense_Mutation	SNP	A	TCGA-V1-A8WW-01A-11D-A377-08		100678493	58460170	13	18672											
RAD54B	25788	broad.mit.edu	37	chr8	95423537	95423537	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctgctacttctttaggagccGaatgaactacaattaaaaaa	16	11	6	8	1	1	1	0	1	1	0	1	3	1	2	1	1	5	1	1	1	9	6			TCGA-V1-A8WW-01A-11D-A377-08	TCGA-V1-A8WW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	637ce92c-479a-4333-a272-a3bc97468267	362152fc-c864-446f-b73d-3bd9926755b8	g.chr8:95423537G>A	ENST00000336148.5	-	4	435	c.311C>T	c.(310-312)tCg>tTg	p.S104L		NM_012415.3	NP_036547.1	Q9Y620	RA54B_HUMAN	RAD54 homolog B (S. cerevisiae)	104					ATP catabolic process (GO:0006200)|DNA duplex unwinding (GO:0032508)|double-strand break repair via homologous recombination (GO:0000724)|mitotic recombination (GO:0006312)|reciprocal meiotic recombination (GO:0007131)	nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|RNA helicase activity (GO:0003724)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(10)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39	Breast(36;4.5e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00217)			TTTAGGAGCCGAATGAACTAC	0.308								Direct reversal of damage;Homologous recombination																														ENST00000336148.5																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(10)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						c.(310-312)tCg>tTg	Direct reversal of damage;Homologous recombination	RAD54 homolog B (S. cerevisiae)							55	55	55					8																	95423537		2202	4299	6501	SO:0001583	missense	25788				double-strand break repair via homologous recombination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA translocase activity|protein binding	g.chr8:95423537G>A	AF112481	CCDS6262.1, CCDS56546.1, CCDS75768.1	8q22.1	2014-08-08			ENSG00000197275	ENSG00000197275			17228	protein-coding gene	gene with protein product		604289				10362364, 10851248	Standard	NM_012415		Approved	RDH54	uc003ygk.3	Q9Y620	OTTHUMG00000133658	ENST00000336148.5:c.311C>T	8.37:g.95423537G>A	ENSP00000336606:p.Ser104Leu						p.S104L	NM_012415.3	NP_036547.1	O95073	FSBP_HUMAN	BRCA - Breast invasive adenocarcinoma(8;0.00217)		4	435	-	Breast(36;4.5e-05)		0					F6WBS8	Missense_Mutation	SNP	ENST00000336148.5	37	c.311C>T	CCDS6262.1	.	.	.	.	.	.	.	.	.	.	G	8.133	0.783485	0.16189	.	.	ENSG00000197275	ENST00000336148;ENST00000523839	D;T	0.88818	-2.43;1.41	5.32	-2.05	0.07321	.	1.763510	0.02925	N	0.138429	T	0.80984	0.4729	L	0.29908	0.895	0.09310	N	1	B	0.15719	0.014	B	0.08055	0.003	T	0.63849	-0.6544	10	0.22706	T	0.39	-24.7176	6.3534	0.21389	0.5523:0.0:0.3258:0.122	.	104	Q9Y620	RA54B_HUMAN	L	104	ENSP00000336606:S104L;ENSP00000428554:S104L	ENSP00000336606:S104L	S	-	2	0	RAD54B	95492713	0.000000	0.05858	0.001000	0.08648	0.006000	0.05464	0.082000	0.14847	-0.221000	0.09973	-1.641000	0.00772	TCG		0.308	RAD54B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257806.3	NM_012415		3	36	0	0	0	1	0	3	36					A	95423537	G	A	95423537	3	1	379	1	0	0	0	0	1	0	0	0	12992	1059	37	2	2469	2	RAD54B	8	95423537	Missense_Mutation	SNP	G	TCGA-V1-A8WW-01A-11D-A377-08		95423537	50940485	14	18673											
C9orf85	138241	broad.mit.edu	37	chr9	74587611	74587611	+	Intron	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttctttcatctttaggttGaataaagaaacagaaaaaat	17	15	5	4	0	3	3	1	1	2	2	3	3	3	3	0	1	1	1	0	1	8	7	rs370077755		TCGA-V1-A8WW-01A-11D-A377-08	TCGA-V1-A8WW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	637ce92c-479a-4333-a272-a3bc97468267	362152fc-c864-446f-b73d-3bd9926755b8	g.chr9:74587611G>T	ENST00000377031.3	+	3	513				C9orf85_ENST00000334731.2_Missense_Mutation_p.L109F|C9orf85_ENST00000486911.2_Intron			Q96MD7	CI085_HUMAN	chromosome 9 open reading frame 85											kidney(2)|large_intestine(1)|lung(4)	7						TCTTTAGGTTGAATAAAGAAA	0.284																																						ENST00000334731.2																			0				kidney(2)|large_intestine(1)|lung(4)	7						c.(325-327)ttG>ttT		chromosome 9 open reading frame 85							42	46	44					9																	74587611		2201	4295	6496	SO:0001627	intron_variant	138241							g.chr9:74587611G>T	BC010179	CCDS6639.1	9q21.2	2012-03-16			ENSG00000155621	ENSG00000155621			28784	protein-coding gene	gene with protein product						12477932	Standard	NM_182505		Approved	MGC61599	uc004ain.3	Q96MD7	OTTHUMG00000020002	ENST00000377031.3:c.323+1077G>T	9.37:g.74587611G>T						C9orf85_ENST00000486911.2_Intron|C9orf85_ENST00000377031.3_Intron	p.L109F	NM_182505.3	NP_872311.2	Q96MD7	CI085_HUMAN			4	517	+			0					Q5W0N1|Q5W0N3|Q6PJW9|Q86U95	Missense_Mutation	SNP	ENST00000377031.3	37	c.327G>T		.	.	.	.	.	.	.	.	.	.	G	0.034	-1.315134	0.01331	.	.	ENSG00000155621	ENST00000334731	.	.	.	5.08	1.39	0.22231	.	.	.	.	.	T	0.46249	0.1383	M	0.72894	2.215	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.20240	-1.0281	8	0.09590	T	0.72	.	4.1514	0.10240	0.0:0.2408:0.1861:0.5731	.	109	Q96MD7-1	.	F	109	.	ENSP00000334289:L109F	L	+	3	2	C9orf85	73777431	1.000000	0.71417	1.000000	0.80357	0.044000	0.14063	0.584000	0.23864	0.280000	0.22209	-1.064000	0.02280	TTG		0.284	C9orf85-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000052628.2	NM_182505		3	52	1	0	1	1	1	3	52					T	74587611	G	T	74587611	1	4	379	0	1	0	0	0	0	0	0	0	2501	1281	45	5		5	C9orf85	9	74587611	Intron	SNP	G	TCGA-V1-A8WW-01A-11D-A377-08		74587611	66625820	15	18674											
SLC27A4	10999	broad.mit.edu	37	chr9	131112789	131112789	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccgcatggctgccctggtgtActatggattccgcatgcggc	5	10	13	13	3	0	0	0	0	0	0	1	1	1	1	3	4	3	4	3	4	2	3			TCGA-V1-A8WW-01A-11D-A377-08	TCGA-V1-A8WW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	637ce92c-479a-4333-a272-a3bc97468267	362152fc-c864-446f-b73d-3bd9926755b8	g.chr9:131112789A>G	ENST00000300456.4	+	6	929	c.812A>G	c.(811-813)tAc>tGc	p.Y271C	SLC27A4_ENST00000372870.1_Intron	NM_005094.3	NP_005085.2	Q6P1M0	S27A4_HUMAN	solute carrier family 27 (fatty acid transporter), member 4	271					fatty acid transport (GO:0015908)|lipid metabolic process (GO:0006629)|long-chain fatty acid import (GO:0044539)|long-chain fatty acid metabolic process (GO:0001676)|long-chain fatty acid transport (GO:0015909)|medium-chain fatty acid transport (GO:0001579)|response to nutrient (GO:0007584)|skin development (GO:0043588)|transmembrane transport (GO:0055085)|transport (GO:0006810)|very long-chain fatty acid catabolic process (GO:0042760)	brush border membrane (GO:0031526)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	fatty acid transporter activity (GO:0015245)|long-chain fatty acid-CoA ligase activity (GO:0004467)|nucleotide binding (GO:0000166)|very long-chain fatty acid-CoA ligase activity (GO:0031957)			autonomic_ganglia(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(2)	13						GCCCTGGTGTACTATGGATTC	0.617																																					Pancreas(107;1554 2241 10946 12953)	ENST00000300456.3																			0				autonomic_ganglia(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(2)	13						c.(811-813)tAc>tGc		solute carrier family 27 (fatty acid transporter), member 4							75	58	64					9																	131112789		2203	4300	6503	SO:0001583	missense	10999				long-chain fatty acid transport|transmembrane transport	integral to membrane	fatty acid transporter activity|nucleotide binding|protein binding	g.chr9:131112789A>G	AF055899	CCDS6899.1	9q34.13	2013-05-22			ENSG00000167114	ENSG00000167114		"Acyl-CoA synthetase family", "Solute carriers"	10998	protein-coding gene	gene with protein product		604194				9878842	Standard	NM_005094		Approved	FATP4, ACSVL4	uc004but.3	Q6P1M0	OTTHUMG00000020746	ENST00000300456.4:c.812A>G	9.37:g.131112789A>G	ENSP00000300456:p.Tyr271Cys					SLC27A4_ENST00000372870.1_Intron	p.Y271C	NM_005094.3	NP_005085.2	Q6P1M0	S27A4_HUMAN			6	929	+			271					A8K2F7|O95186|Q96G53	Missense_Mutation	SNP	ENST00000300456.4	37	c.812A>G	CCDS6899.1	.	.	.	.	.	.	.	.	.	.	A	14.86	2.660374	0.47572	.	.	ENSG00000167114	ENST00000300456	T	0.40476	1.03	5.08	5.08	0.68730	AMP-dependent synthetase/ligase (1);	0.070349	0.64402	D	0.000014	T	0.58366	0.2117	M	0.72624	2.21	0.53005	D	0.999964	D	0.71674	0.998	D	0.67231	0.95	T	0.58463	-0.7632	10	0.39692	T	0.17	-26.9282	9.868	0.41157	0.8371:0.0:0.0:0.1629	.	271	Q6P1M0	S27A4_HUMAN	C	271	ENSP00000300456:Y271C	ENSP00000300456:Y271C	Y	+	2	0	SLC27A4	130152610	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	5.555000	0.67301	2.132000	0.65825	0.460000	0.39030	TAC		0.617	SLC27A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054432.2			10	16	0	0	0	1	0	10	16					G	131112789	A	G	131112789	3	3	379	1	0	0	0	0	1	0	0	0	14528	391	14	4	830	4	SLC27A4	9	131112789	Missense_Mutation	SNP	A	TCGA-V1-A8WW-01A-11D-A377-08	56525178	131112789	10100642	16	18675											
SIRT1	23411	broad.mit.edu	37	chr10	69666644	69666644	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcgcaactatacccagaacaTagacacgctggaacaggttg	14	7	9	11	2	0	2	0	0	0	2	1	3	0	3	1	2	4	3	1	2	6	4			TCGA-V1-A8WW-01A-11D-A377-08	TCGA-V1-A8WW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	637ce92c-479a-4333-a272-a3bc97468267	362152fc-c864-446f-b73d-3bd9926755b8	g.chr10:69666644T>A	ENST00000212015.6	+	5	1093	c.1040T>A	c.(1039-1041)aTa>aAa	p.I347K	SIRT1_ENST00000403579.1_Missense_Mutation_p.I44K|SIRT1_ENST00000432464.1_Missense_Mutation_p.I52K|SIRT1_ENST00000406900.1_Missense_Mutation_p.I44K	NM_012238.4	NP_036370.2	Q96EB6	SIR1_HUMAN	sirtuin 1	347	Deacetylase sirtuin-type. {ECO:0000255|PROSITE-ProRule:PRU00236}.|Interaction with CCAR2.				angiogenesis (GO:0001525)|cell aging (GO:0007569)|cellular glucose homeostasis (GO:0001678)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to starvation (GO:0009267)|cellular response to tumor necrosis factor (GO:0071356)|cellular triglyceride homeostasis (GO:0035356)|cholesterol homeostasis (GO:0042632)|chromatin organization (GO:0006325)|chromatin silencing (GO:0006342)|chromatin silencing at rDNA (GO:0000183)|circadian regulation of gene expression (GO:0032922)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA synthesis involved in DNA repair (GO:0000731)|establishment of chromatin silencing (GO:0006343)|fatty acid homeostasis (GO:0055089)|histone deacetylation (GO:0016575)|histone H3 deacetylation (GO:0070932)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|maintenance of chromatin silencing (GO:0006344)|methylation-dependent chromatin silencing (GO:0006346)|muscle organ development (GO:0007517)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cAMP-dependent protein kinase activity (GO:2000480)|negative regulation of cell growth (GO:0030308)|negative regulation of cellular response to testosterone stimulus (GO:2000655)|negative regulation of cellular senescence (GO:2000773)|negative regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043518)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of helicase activity (GO:0051097)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:1902166)|negative regulation of neuron death (GO:1901215)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|negative regulation of peptidyl-lysine acetylation (GO:2000757)|negative regulation of phosphorylation (GO:0042326)|negative regulation of prostaglandin biosynthetic process (GO:0031393)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of TOR signaling (GO:0032007)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|ovulation from ovarian follicle (GO:0001542)|peptidyl-lysine acetylation (GO:0018394)|peptidyl-lysine deacetylation (GO:0034983)|positive regulation of adaptive immune response (GO:0002821)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cAMP-dependent protein kinase activity (GO:2000481)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cellular senescence (GO:2000774)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of chromatin silencing (GO:0031937)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of DNA repair (GO:0045739)|positive regulation of histone H3-K9 methylation (GO:0051574)|positive regulation of insulin receptor signaling pathway (GO:0046628)|positive regulation of macroautophagy (GO:0016239)|positive regulation of macrophage apoptotic process (GO:2000111)|positive regulation of MHC class II biosynthetic process (GO:0045348)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein deacetylation (GO:0006476)|protein destabilization (GO:0031648)|protein ubiquitination (GO:0016567)|pyrimidine dimer repair by nucleotide-excision repair (GO:0000720)|regulation of bile acid biosynthetic process (GO:0070857)|regulation of cell proliferation (GO:0042127)|regulation of endodeoxyribonuclease activity (GO:0032071)|regulation of glucose metabolic process (GO:0010906)|regulation of mitotic cell cycle (GO:0007346)|regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035358)|regulation of protein import into nucleus, translocation (GO:0033158)|regulation of smooth muscle cell apoptotic process (GO:0034391)|response to hydrogen peroxide (GO:0042542)|response to insulin (GO:0032868)|response to oxidative stress (GO:0006979)|rRNA processing (GO:0006364)|single strand break repair (GO:0000012)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)|triglyceride mobilization (GO:0006642)|viral process (GO:0016032)|white fat cell differentiation (GO:0050872)	chromatin silencing complex (GO:0005677)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear envelope (GO:0005635)|nuclear euchromatin (GO:0005719)|nuclear heterochromatin (GO:0005720)|nuclear inner membrane (GO:0005637)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|rDNA heterochromatin (GO:0033553)	bHLH transcription factor binding (GO:0043425)|deacetylase activity (GO:0019213)|enzyme binding (GO:0019899)|histone binding (GO:0042393)|histone deacetylase activity (GO:0004407)|HLH domain binding (GO:0043398)|identical protein binding (GO:0042802)|keratin filament binding (GO:1990254)|metal ion binding (GO:0046872)|mitogen-activated protein kinase binding (GO:0051019)|NAD+ binding (GO:0070403)|NAD-dependent histone deacetylase activity (GO:0017136)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent protein deacetylase activity (GO:0034979)|p53 binding (GO:0002039)|protein C-terminus binding (GO:0008022)|protein deacetylase activity (GO:0033558)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(3)|skin(1)	14						ACCCAGAACATAGACACGCTG	0.388																																						ENST00000212015.6																			0				central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(3)|skin(1)	14						c.(1039-1041)aTa>aAa		sirtuin 1							91	93	92					10																	69666644		2203	4300	6503	SO:0001583	missense	23411				apoptosis|cell aging|cellular response to hydrogen peroxide|cellular response to starvation|chromatin silencing at rDNA|DNA repair|DNA replication|establishment of chromatin silencing|histone H3 deacetylation|interspecies interaction between organisms|maintenance of chromatin silencing|muscle organ development|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of fat cell differentiation|negative regulation of helicase activity|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|peptidyl-lysine acetylation|peptidyl-lysine deacetylation|positive regulation of anti-apoptosis|positive regulation of chromatin silencing|positive regulation of DNA repair|regulation of apoptosis|regulation of cell proliferation|regulation of endodeoxyribonuclease activity|regulation of protein import into nucleus, translocation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|rRNA processing|transcription, DNA-dependent|triglyceride mobilization|white fat cell differentiation	chromatin silencing complex|cytoplasm|nuclear euchromatin|nuclear heterochromatin|nuclear inner membrane|nucleolus|PML body|rDNA heterochromatin	bHLH transcription factor binding|histone binding|HLH domain binding|identical protein binding|mitogen-activated protein kinase binding|NAD+ binding|NAD-dependent histone deacetylase activity (H3-K9 specific)|p53 binding|protein C-terminus binding|transcription corepressor activity|zinc ion binding	g.chr10:69666644T>A	AF083106	CCDS7273.1, CCDS44412.1	10q21	2010-06-25	2010-06-25		ENSG00000096717	ENSG00000096717			14929	protein-coding gene	gene with protein product		604479	"sirtuin (silent mating type information regulation 2, S. cerevisiae, homolog) 1", "sirtuin (silent mating type information regulation 2 homolog) 1 (S. cerevisiae)"			10381378	Standard	NM_012238		Approved	SIR2L1	uc001jnd.3	Q96EB6	OTTHUMG00000018340	ENST00000212015.6:c.1040T>A	10.37:g.69666644T>A	ENSP00000212015:p.Ile347Lys					SIRT1_ENST00000406900.1_Missense_Mutation_p.I44K|SIRT1_ENST00000432464.1_Missense_Mutation_p.I52K|SIRT1_ENST00000403579.1_Missense_Mutation_p.I44K	p.I347K	NM_012238.4	NP_036370.2	Q96EB6	SIRT1_HUMAN			5	1093	+			347			Deacetylase sirtuin-type.		Q2XNF6|Q5JVQ0|Q9GZR9|Q9Y6F0	Missense_Mutation	SNP	ENST00000212015.6	37	c.1040T>A	CCDS7273.1	.	.	.	.	.	.	.	.	.	.	T	26.0	4.695195	0.88830	.	.	ENSG00000096717	ENST00000212015;ENST00000432464;ENST00000406900;ENST00000403579	T;T;T;T	0.26660	1.72;1.72;1.72;1.72	5.2	5.2	0.72013	.	0.000000	0.85682	D	0.000000	T	0.69450	0.3112	H	0.99261	4.49	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.83496	0.0072	10	0.87932	D	0	-12.8205	14.726	0.69343	0.0:0.0:0.0:1.0	.	44;347	B0QZ35;Q96EB6	.;SIRT1_HUMAN	K	347;52;44;44	ENSP00000212015:I347K;ENSP00000409208:I52K;ENSP00000384508:I44K;ENSP00000384063:I44K	ENSP00000212015:I347K	I	+	2	0	SIRT1	69336650	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	7.637000	0.83313	1.950000	0.56595	0.477000	0.44152	ATA		0.388	SIRT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048296.1			13	21	0	0	0	1	0	13	21					A	69666644	T	A	69666644	3	1	379	1	0	0	0	0	1	0	0	0	14337	1406	49	5	1058	5	SIRT1	10	69666644	Missense_Mutation	SNP	T	TCGA-V1-A8WW-01A-11D-A377-08		69666644	65868103	17	18676											
C11orf41	25758	broad.mit.edu	37	chr11	33689492	33689492	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctccctccaggcttcctcGtcagtacagccagccagcca	7	8	7	19	1	2	0	1	0	1	0	6	0	4	0	6	1	4	2	6	1	1	2			TCGA-V1-A8WW-01A-11D-A377-08	TCGA-V1-A8WW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	637ce92c-479a-4333-a272-a3bc97468267	362152fc-c864-446f-b73d-3bd9926755b8	g.chr11:33689492G>A	ENST00000321505.4	+	20	5522	c.5342G>A	c.(5341-5343)cGt>cAt	p.R1781H	KIAA1549L_ENST00000389726.3_Missense_Mutation_p.R1787H|RP4-541C22.5_ENST00000534431.1_RNA			Q6ZVL6	K154L_HUMAN	KIAA1549-like	1781						integral component of membrane (GO:0016021)		p.R1781H(1)									AGGCTTCCTCGTCAGTACAGC	0.682																																						ENST00000321505.4																			1	Substitution - Missense(1)	p.R1781H(1)	lung(1)								c.(5341-5343)cGt>cAt		KIAA1549-like							26	33	31					11																	33689492		2040	4190	6230	SO:0001583	missense	25758							g.chr11:33689492G>A	U10991	CCDS44565.1, CCDS44565.2	11p13	2012-08-09	2012-08-09	2012-08-09	ENSG00000110427	ENSG00000110427			24836	protein-coding gene	gene with protein product		612297	"chromosome 11 open reading frame 69", "chromosome 11 open reading frame 41"	C11orf69, C11orf41			Standard	NM_012194		Approved	G2, MGC34830	uc021qfs.1	Q6ZVL6	OTTHUMG00000150410	ENST00000321505.4:c.5342G>A	11.37:g.33689492G>A	ENSP00000315295:p.Arg1781His					KIAA1549L_ENST00000389726.3_Missense_Mutation_p.R1787H|RP4-541C22.5_ENST00000534431.1_RNA	p.R1781H							20	5522	+								B0QYU0	Missense_Mutation	SNP	ENST00000321505.4	37	c.5342G>A	CCDS44565.2	.	.	.	.	.	.	.	.	.	.	G	23.8	4.453960	0.84209	.	.	ENSG00000110427	ENST00000321505;ENST00000389726;ENST00000536568	.	.	.	5.67	5.67	0.87782	.	0.092202	0.45867	D	0.000338	T	0.58466	0.2124	N	0.19112	0.55	0.33925	D	0.641378	D	0.89917	1.0	D	0.79108	0.992	T	0.57808	-0.7747	9	0.14252	T	0.57	-12.5025	19.7607	0.96316	0.0:0.0:1.0:0.0	.	1787	E9PAT2	.	H	1781;1787;1620	.	ENSP00000315295:R1781H	R	+	2	0	C11orf41	33646068	1.000000	0.71417	0.995000	0.50966	0.875000	0.50365	7.166000	0.77553	2.686000	0.91538	0.561000	0.74099	CGT		0.682	KIAA1549L-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317998.1	NM_012194		18	21	0	0	0	1	0	18	21					A	33689492	G	A	33689492	3	1	379	1	0	0	0	0	1	0	0	0	1640	1145	40	1	5438	1	C11orf41	11	33689492	Missense_Mutation	SNP	G	TCGA-V1-A8WW-01A-11D-A377-08		33689492	101317024	18	18677											
OR4C11	219429	broad.mit.edu	37	chr11	55371422	55371422	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	accctatccaggcaagaacaAtcaggatgatgcagacctgc	14	6	9	12	0	1	3	1	1	0	2	2	4	2	4	3	2	3	2	3	2	4	1	rs564428873		TCGA-V1-A8WW-01A-11D-A377-08	TCGA-V1-A8WW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	637ce92c-479a-4333-a272-a3bc97468267	362152fc-c864-446f-b73d-3bd9926755b8	g.chr11:55371422A>T	ENST00000302231.4	-	1	452	c.428T>A	c.(427-429)aTt>aAt	p.I143N		NM_001004700.2	NP_001004700.2	Q6IEV9	OR4CB_HUMAN	olfactory receptor, family 4, subfamily C, member 11	143						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(1)|large_intestine(5)|lung(23)|ovary(1)|prostate(1)|skin(1)	33						GGCAAGAACAATCAGGATGAT	0.453																																						ENST00000302231.4																			0				endometrium(1)|kidney(1)|large_intestine(5)|lung(23)|ovary(1)|prostate(1)|skin(1)	33						c.(427-429)aTt>aAt		olfactory receptor, family 4, subfamily C, member 11							83	69	74					11																	55371422		2176	4011	6187	SO:0001583	missense	219429				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55371422A>T	AB065774	CCDS31503.1	11q11	2012-08-09		2004-03-10	ENSG00000172188	ENSG00000172188		"GPCR / Class A : Olfactory receptors"	15167	protein-coding gene	gene with protein product				OR4C11P			Standard	NM_001004700		Approved		uc010rii.2	Q6IEV9	OTTHUMG00000165290	ENST00000302231.4:c.428T>A	11.37:g.55371422A>T	ENSP00000306651:p.Ile143Asn						p.I143N	NM_001004700.2	NP_001004700.2	Q6IEV9	OR4CB_HUMAN			1	452	-			143					B9EIL4|Q8NGL8	Missense_Mutation	SNP	ENST00000302231.4	37	c.428T>A	CCDS31503.1	.	.	.	.	.	.	.	.	.	.	A	8.960	0.970290	0.18659	.	.	ENSG00000172188	ENST00000302231	T	0.45276	0.9	4.24	3.11	0.35812	GPCR, rhodopsin-like superfamily (1);	0.259655	0.27056	U	0.021146	T	0.59335	0.2186	M	0.81497	2.545	0.09310	N	1	D	0.64830	0.994	D	0.67382	0.951	T	0.51028	-0.8757	10	0.87932	D	0	.	6.4009	0.21638	0.8862:0.0:0.1138:0.0	.	143	Q6IEV9	OR4CB_HUMAN	N	143	ENSP00000306651:I143N	ENSP00000306651:I143N	I	-	2	0	OR4C11	55127998	0.000000	0.05858	0.001000	0.08648	0.003000	0.03518	0.701000	0.25616	0.791000	0.33826	0.391000	0.25812	ATT		0.453	OR4C11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383268.1	NM_001004700		4	52	0	0	0	1	0	4	52					T	55371422	A	T	55371422	3	4	379	1	0	0	0	0	1	0	0	0	11045	101	4	5	506	5	OR4C11	11	55371422	Missense_Mutation	SNP	A	TCGA-V1-A8WW-01A-11D-A377-08	21681930	55371422	79635094	19	18678											
OR5AN1	390195	broad.mit.edu	37	chr11	59132469	59132469	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgtcatcagacatttcttcTgtgacatgccccaactgtta	10	14	6	11	0	4	2	2	1	2	1	4	2	4	2	2	0	2	1	2	0	2	3			TCGA-V1-A8WW-01A-11D-A377-08	TCGA-V1-A8WW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	637ce92c-479a-4333-a272-a3bc97468267	362152fc-c864-446f-b73d-3bd9926755b8	g.chr11:59132469T>G	ENST00000313940.2	+	1	585	c.538T>G	c.(538-540)Tgt>Ggt	p.C180G		NM_001004729.1	NP_001004729.1	Q8NGI8	O5AN1_HUMAN	olfactory receptor, family 5, subfamily AN, member 1	180						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	21						ACATTTCTTCTGTGACATGCC	0.438																																						ENST00000313940.2																			0				breast(1)|endometrium(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	21						c.(538-540)Tgt>Ggt		olfactory receptor, family 5, subfamily AN, member 1							155	142	146					11																	59132469		2201	4295	6496	SO:0001583	missense	390195				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:59132469T>G	AB065806	CCDS31559.1	11q12.1	2012-08-09			ENSG00000176495	ENSG00000176495		"GPCR / Class A : Olfactory receptors"	15255	protein-coding gene	gene with protein product		615702					Standard	NM_001004729		Approved		uc010rks.2	Q8NGI8	OTTHUMG00000167337	ENST00000313940.2:c.538T>G	11.37:g.59132469T>G	ENSP00000320302:p.Cys180Gly						p.C180G	NM_001004729.1	NP_001004729.1	Q8NGI8	O5AN1_HUMAN			1	585	+			180					B9EIS2|Q6IEV4	Missense_Mutation	SNP	ENST00000313940.2	37	c.538T>G	CCDS31559.1	.	.	.	.	.	.	.	.	.	.	T	15.84	2.953256	0.53293	.	.	ENSG00000176495	ENST00000313940	T	0.62788	0.0	3.9	3.9	0.45041	GPCR, rhodopsin-like superfamily (1);	0.000000	0.56097	D	0.000023	D	0.85923	0.5810	H	0.98487	4.245	0.37171	D	0.903066	D	0.89917	1.0	D	0.91635	0.999	D	0.91807	0.5456	10	0.87932	D	0	-32.0251	11.9691	0.53053	0.0:0.0:0.0:1.0	.	180	Q8NGI8	O5AN1_HUMAN	G	180	ENSP00000320302:C180G	ENSP00000320302:C180G	C	+	1	0	OR5AN1	58889045	1.000000	0.71417	1.000000	0.80357	0.826000	0.46750	4.430000	0.59907	1.743000	0.51761	0.533000	0.62120	TGT		0.438	OR5AN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394231.1	NM_001004729		4	180	0	0	0	1	0	4	180					G	59132469	T	G	59132469	3	3	379	1	0	0	0	0	1	0	0	0	11143	1580	55	5	540	5	OR5AN1	11	59132469	Missense_Mutation	SNP	T	TCGA-V1-A8WW-01A-11D-A377-08	3761047	59132469	75874047	20	18679											
SIK2	23235	broad.mit.edu	37	chr11	111558815	111558815	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgttgattattgtcatggtcGgaagattgtgcaccgtgacc	8	14	12	7	2	1	3	1	2	0	1	2	4	1	4	2	2	1	2	2	2	2	4	rs200775925		TCGA-V1-A8WW-01A-11D-A377-08	TCGA-V1-A8WW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	637ce92c-479a-4333-a272-a3bc97468267	362152fc-c864-446f-b73d-3bd9926755b8	g.chr11:111558815G>A	ENST00000304987.3	+	4	580	c.407G>A	c.(406-408)cGg>cAg	p.R136Q		NM_015191.1	NP_056006.1	Q9H0K1	SIK2_HUMAN	salt-inducible kinase 2	136	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				insulin receptor signaling pathway (GO:0008286)|intracellular signal transduction (GO:0035556)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of insulin receptor signaling pathway (GO:0046626)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	30						TGTCATGGTCGGAAGATTGTG	0.423													G|||	1	0.000199681	0	0	5008	,	,		18252	0.001		0	False		,,,				2504	0					ENST00000304987.3																			0				breast(1)|central_nervous_system(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	30						c.(406-408)cGg>cAg		salt-inducible kinase 2							119	110	113					11																	111558815		2201	4297	6498	SO:0001583	missense	23235				intracellular protein kinase cascade|regulation of insulin receptor signaling pathway	Golgi apparatus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity	g.chr11:111558815G>A	AB018324	CCDS8347.1	11q23.1	2008-12-23	2008-12-23	2008-12-23	ENSG00000170145	ENSG00000170145			21680	protein-coding gene	gene with protein product		608973	"SNF1-like kinase 2"	SNF1LK2		15067358	Standard	NM_015191		Approved	KIAA0781, QIK, DKFZp434K1115, LOH11CR1I	uc001plt.3	Q9H0K1	OTTHUMG00000150644	ENST00000304987.3:c.407G>A	11.37:g.111558815G>A	ENSP00000305976:p.Arg136Gln						p.R136Q	NM_015191.1	NP_056006.1	Q9H0K1	SIK2_HUMAN			4	580	+			136			Protein kinase.		A8K5B8|B0YJ94|O94878|Q17RV0|Q6AZE2|Q76N03|Q8NCV7|Q96CZ8	Missense_Mutation	SNP	ENST00000304987.3	37	c.407G>A	CCDS8347.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	27.3	4.814996	0.90790	.	.	ENSG00000170145	ENST00000304987	T	0.64438	-0.1	5.77	3.91	0.45181	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.44685	0.1305	N	0.17082	0.46	0.58432	D	0.999997	P	0.42584	0.784	B	0.38458	0.274	T	0.51911	-0.8645	10	0.66056	D	0.02	.	11.7516	0.51852	0.1436:0.0:0.8564:0.0	.	136	Q9H0K1	SIK2_HUMAN	Q	136	ENSP00000305976:R136Q	ENSP00000305976:R136Q	R	+	2	0	SIK2	111064025	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.345000	0.72995	1.448000	0.47680	0.655000	0.94253	CGG		0.423	SIK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319352.3	NM_015191		27	42	0	0	0	1	0	27	42					A	111558815	G	A	111558815	3	1	379	1	0	0	0	0	1	0	0	0	14318	1116	39	2	421	2	SIK2	11	111558815	Missense_Mutation	SNP	G	TCGA-V1-A8WW-01A-11D-A377-08	52426346	111558815	23447701	21	18680											
ATF7IP	55729	broad.mit.edu	37	chr12	14589075	14589075	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gaaaacgttctaaatcagaaGacatggacaatgtacagtct	17	9	8	7	1	3	2	1	0	2	2	3	4	3	3	0	1	2	2	0	1	7	3			TCGA-V1-A8WW-01A-11D-A377-08	TCGA-V1-A8WW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	637ce92c-479a-4333-a272-a3bc97468267	362152fc-c864-446f-b73d-3bd9926755b8	g.chr12:14589075G>A	ENST00000540793.1	+	3	1836	c.1681G>A	c.(1681-1683)Gac>Aac	p.D561N	ATF7IP_ENST00000261168.4_Missense_Mutation_p.D561N|ATF7IP_ENST00000541654.1_3'UTR|ATF7IP_ENST00000536444.1_Missense_Mutation_p.D560N|ATF7IP_ENST00000543189.1_Missense_Mutation_p.D560N|ATF7IP_ENST00000544627.1_Missense_Mutation_p.D569N			Q6VMQ6	MCAF1_HUMAN	activating transcription factor 7 interacting protein	561	Glu-rich.				DNA methylation (GO:0006306)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of RNA polymerase II transcriptional preinitiation complex assembly (GO:0045898)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	nucleus (GO:0005634)				cervix(1)|endometrium(7)|kidney(5)|large_intestine(10)|liver(2)|lung(22)|ovary(1)|prostate(4)|skin(1)|urinary_tract(1)	54						TAAATCAGAAGACATGGACAA	0.353																																						ENST00000544627.1																			0				cervix(1)|endometrium(7)|kidney(5)|large_intestine(10)|liver(2)|lung(22)|ovary(1)|prostate(4)|skin(1)|urinary_tract(1)	54						c.(1705-1707)Gac>Aac		activating transcription factor 7 interacting protein							99	97	98					12																	14589075		2203	4299	6502	SO:0001583	missense	55729				DNA methylation|interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|regulation of RNA polymerase II transcriptional preinitiation complex assembly|transcription, DNA-dependent		protein binding	g.chr12:14589075G>A	AJ242978	CCDS8663.1, CCDS66326.1, CCDS66327.1, CCDS73449.1	12p13.1	2005-11-18				ENSG00000171681			20092	protein-coding gene	gene with protein product		613644				10976766, 10777215	Standard	XM_005253424		Approved	FLJ10688, p621	uc001rbw.3	Q6VMQ6		ENST00000540793.1:c.1681G>A	12.37:g.14589075G>A	ENSP00000444589:p.Asp561Asn					ATF7IP_ENST00000536444.1_Missense_Mutation_p.D560N|ATF7IP_ENST00000261168.4_Missense_Mutation_p.D561N|ATF7IP_ENST00000543189.1_Missense_Mutation_p.D560N|ATF7IP_ENST00000540793.1_Missense_Mutation_p.D561N|ATF7IP_ENST00000541654.1_3'UTR	p.D569N			Q6VMQ6	MCAF1_HUMAN			4	2025	+			561			Glu-rich.|Interaction with SETDB1.		F5GX74|G3V1U0|Q4G0T9|Q6P3T3|Q86XW5|Q9NVJ9|Q9NWC2|Q9Y4X8	Missense_Mutation	SNP	ENST00000540793.1	37	c.1705G>A	CCDS8663.1	.	.	.	.	.	.	.	.	.	.	G	34	5.336185	0.95758	.	.	ENSG00000171681	ENST00000261168;ENST00000543189;ENST00000536444;ENST00000544627;ENST00000540793	T;T;T;T;T	0.23950	1.92;1.88;1.92;1.92;1.92	5.48	5.48	0.80851	.	0.000000	0.64402	D	0.000013	T	0.50411	0.1614	L	0.56769	1.78	0.51233	D	0.999912	D;D;D;D;D;D	0.89917	1.0;1.0;0.978;0.978;1.0;1.0	D;D;P;P;D;D	0.91635	0.998;0.999;0.851;0.851;0.999;0.999	T	0.48139	-0.9061	10	0.87932	D	0	-18.6408	19.2901	0.94095	0.0:0.0:1.0:0.0	.	569;560;560;561;560;172	B4E2A2;B4DRL6;G3V1U0;Q6VMQ6;Q6VMQ6-2;B3KQF8	.;.;.;MCAF1_HUMAN;.;.	N	561;560;560;569;561	ENSP00000261168:D561N;ENSP00000443179:D560N;ENSP00000445955:D560N;ENSP00000440440:D569N;ENSP00000444589:D561N	ENSP00000261168:D561N	D	+	1	0	ATF7IP	14480342	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.442000	0.73443	2.728000	0.93425	0.585000	0.79938	GAC		0.353	ATF7IP-024	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000401400.1	NM_018179		71	31	0	0	0	1	0	71	31					A	14589075	G	A	14589075	3	1	379	1	0	0	0	0	1	0	0	0	1087	942	33	3	1691	3	ATF7IP	12	14589075	Missense_Mutation	SNP	G	TCGA-V1-A8WW-01A-11D-A377-08		14589075	119262820	22	18681											
ATF7IP	55729	broad.mit.edu	37	chr12	14589162	14589162	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	taaagattacagccaaaggaGacattaaccagaaacttcaa	20	7	6	8	0	1	3	1	0	0	3	1	4	1	3	2	1	4	0	2	1	7	4			TCGA-V1-A8WW-01A-11D-A377-08	TCGA-V1-A8WW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	637ce92c-479a-4333-a272-a3bc97468267	362152fc-c864-446f-b73d-3bd9926755b8	g.chr12:14589162G>C	ENST00000540793.1	+	3	1923	c.1768G>C	c.(1768-1770)Gac>Cac	p.D590H	ATF7IP_ENST00000261168.4_Missense_Mutation_p.D590H|ATF7IP_ENST00000541654.1_3'UTR|ATF7IP_ENST00000536444.1_Missense_Mutation_p.D589H|ATF7IP_ENST00000543189.1_Missense_Mutation_p.D589H|ATF7IP_ENST00000544627.1_Missense_Mutation_p.D598H			Q6VMQ6	MCAF1_HUMAN	activating transcription factor 7 interacting protein	590	Interaction with SETDB1.				DNA methylation (GO:0006306)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of RNA polymerase II transcriptional preinitiation complex assembly (GO:0045898)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	nucleus (GO:0005634)				cervix(1)|endometrium(7)|kidney(5)|large_intestine(10)|liver(2)|lung(22)|ovary(1)|prostate(4)|skin(1)|urinary_tract(1)	54						AGCCAAAGGAGACATTAACCA	0.323																																						ENST00000544627.1																			0				cervix(1)|endometrium(7)|kidney(5)|large_intestine(10)|liver(2)|lung(22)|ovary(1)|prostate(4)|skin(1)|urinary_tract(1)	54						c.(1792-1794)Gac>Cac		activating transcription factor 7 interacting protein							121	130	127					12																	14589162		2203	4300	6503	SO:0001583	missense	55729				DNA methylation|interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|regulation of RNA polymerase II transcriptional preinitiation complex assembly|transcription, DNA-dependent		protein binding	g.chr12:14589162G>C	AJ242978	CCDS8663.1, CCDS66326.1, CCDS66327.1, CCDS73449.1	12p13.1	2005-11-18				ENSG00000171681			20092	protein-coding gene	gene with protein product		613644				10976766, 10777215	Standard	XM_005253424		Approved	FLJ10688, p621	uc001rbw.3	Q6VMQ6		ENST00000540793.1:c.1768G>C	12.37:g.14589162G>C	ENSP00000444589:p.Asp590His					ATF7IP_ENST00000536444.1_Missense_Mutation_p.D589H|ATF7IP_ENST00000261168.4_Missense_Mutation_p.D590H|ATF7IP_ENST00000543189.1_Missense_Mutation_p.D589H|ATF7IP_ENST00000540793.1_Missense_Mutation_p.D590H|ATF7IP_ENST00000541654.1_3'UTR	p.D598H			Q6VMQ6	MCAF1_HUMAN			4	2112	+			590			Interaction with SETDB1.		F5GX74|G3V1U0|Q4G0T9|Q6P3T3|Q86XW5|Q9NVJ9|Q9NWC2|Q9Y4X8	Missense_Mutation	SNP	ENST00000540793.1	37	c.1792G>C	CCDS8663.1	.	.	.	.	.	.	.	.	.	.	G	19.20	3.780826	0.70222	.	.	ENSG00000171681	ENST00000261168;ENST00000538511;ENST00000545723;ENST00000543189;ENST00000536444;ENST00000544627;ENST00000540793	T;T;T;T;T	0.26518	1.85;1.73;1.85;1.85;1.85	5.48	5.48	0.80851	.	0.000000	0.64402	D	0.000001	T	0.47619	0.1455	M	0.61703	1.905	0.48762	D	0.999706	D;D;D;D;D;D	0.89917	1.0;1.0;0.999;0.999;1.0;1.0	D;D;D;D;D;D	0.79108	0.992;0.992;0.964;0.964;0.987;0.992	T	0.41448	-0.9508	10	0.72032	D	0.01	-21.0056	13.6215	0.62140	0.0757:0.0:0.9243:0.0	.	598;589;589;590;589;201	B4E2A2;B4DRL6;G3V1U0;Q6VMQ6;Q6VMQ6-2;B3KQF8	.;.;.;MCAF1_HUMAN;.;.	H	590;29;97;589;589;598;590	ENSP00000261168:D590H;ENSP00000443179:D589H;ENSP00000445955:D589H;ENSP00000440440:D598H;ENSP00000444589:D590H	ENSP00000261168:D590H	D	+	1	0	ATF7IP	14480429	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	4.792000	0.62467	2.728000	0.93425	0.585000	0.79938	GAC		0.323	ATF7IP-024	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000401400.1	NM_018179		101	59	0	0	0	1	0	101	59					C	14589162	G	C	14589162	3	2	379	1	0	0	0	0	1	0	0	0	1087	942	33	5	1778	5	ATF7IP	12	14589162	Missense_Mutation	SNP	G	TCGA-V1-A8WW-01A-11D-A377-08	87	14589162	119262733	23	18682											
KRT79	338785	broad.mit.edu	37	chr12	53217008	53217008	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgcttccgcaatggccgtctGcagctgctgacactgcccag	6	8	11	16	3	1	1	0	1	1	0	2	1	2	1	3	1	4	5	3	1	1	1			TCGA-V1-A8WW-01A-11D-A377-08	TCGA-V1-A8WW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	637ce92c-479a-4333-a272-a3bc97468267	362152fc-c864-446f-b73d-3bd9926755b8	g.chr12:53217008G>A	ENST00000330553.5	-	7	1193	c.1159C>T	c.(1159-1161)Cag>Tag	p.Q387*		NM_175834.2	NP_787028.1	Q5XKE5	K2C79_HUMAN	keratin 79	387	Coil 2.|Rod.					extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	enzyme binding (GO:0019899)|structural molecule activity (GO:0005198)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						ATGGCCGTCTGCAGCTGCTGA	0.597																																						ENST00000330553.5																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						c.(1159-1161)Cag>Tag		keratin 79							52	48	49					12																	53217008		2203	4300	6503	SO:0001587	stop_gained	338785					keratin filament	structural molecule activity	g.chr12:53217008G>A	AJ564105	CCDS8839.1	12q13.13	2014-02-12	2007-07-03		ENSG00000185640	ENSG00000185640		"-", "Intermediate filaments type II, keratins (basic)"	28930	protein-coding gene	gene with protein product	"keratin 6-like"	611160				11683385	Standard	NM_175834		Approved	K6L, KRT6L	uc001sbb.3	Q5XKE5	OTTHUMG00000169878	ENST00000330553.5:c.1159C>T	12.37:g.53217008G>A	ENSP00000328358:p.Gln387*						p.Q387*	NM_175834.2	NP_787028.1	Q5XKE5	K2C79_HUMAN			7	1193	-			387			Coil 2.|Rod.		Q6P465|Q7Z793	Nonsense_Mutation	SNP	ENST00000330553.5	37	c.1159C>T	CCDS8839.1	.	.	.	.	.	.	.	.	.	.	G	36	5.740237	0.96873	.	.	ENSG00000185640	ENST00000330553	.	.	.	4.01	4.01	0.46588	.	0.000000	0.39615	N	0.001304	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	.	13.8713	0.63622	0.0:0.1543:0.8457:0.0	.	.	.	.	X	387	.	ENSP00000328358:Q387X	Q	-	1	0	KRT79	51503275	1.000000	0.71417	1.000000	0.80357	0.837000	0.47467	2.821000	0.48065	2.523000	0.85059	0.555000	0.69702	CAG		0.597	KRT79-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406376.1	NM_175834		6	12	0	0	0	1	0	6	12					A	53217008	G	A	53217008	4	1	379	1	0	0	0	0	0	1	0	0	8492	1328	46	3	460	3	KRT79	12	53217008	Nonsense_Mutation	SNP	G	TCGA-V1-A8WW-01A-11D-A377-08	38627846	53217008	80634887	24	18683											
AKT1	207	broad.mit.edu	37	chr14	105246551	105246551	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ccgccaggtcttgatgtactCccctacagacgtgcgggtgg	6	9	13	13	3	1	2	0	1	1	1	2	2	2	2	4	3	3	1	4	3	2	3	rs34409589|rs121434592		TCGA-V1-A8WW-01A-11D-A377-08	TCGA-V1-A8WW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	637ce92c-479a-4333-a272-a3bc97468267	362152fc-c864-446f-b73d-3bd9926755b8	g.chr14:105246551C>T	ENST00000554581.1	-	2	1529	c.49G>A	c.(49-51)Gag>Aag	p.E17K	AKT1_ENST00000555528.1_Missense_Mutation_p.E17K|AKT1_ENST00000407796.2_Missense_Mutation_p.E17K|AKT1_ENST00000349310.3_Missense_Mutation_p.E17K|AKT1_ENST00000544168.1_5'Flank|AKT1_ENST00000402615.2_Missense_Mutation_p.E17K|AKT1_ENST00000554848.1_Missense_Mutation_p.E17K			P31749	AKT1_HUMAN	v-akt murine thymoma viral oncogene homolog 1	17	Inositol-(1,3,4,5)-tetrakisphosphate binding.|PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.		E -> K (in PROTEUSS and breast cancer; also detected in colorectal and ovarian cancer; somatic mutation; results in increased phosphorylation at T-308 and higher basal ubiquitination; the mutant protein is more efficiently recruited to the plasma membrane; alters phosphatidylinositiol phosphates lipid specificity of the AKT1 PH domain; dbSNP:rs121434592). {ECO:0000269|PubMed:17611497, ECO:0000269|PubMed:21793738}.		activation-induced cell death of T cells (GO:0006924)|aging (GO:0007568)|anagen (GO:0042640)|apoptotic mitochondrial changes (GO:0008637)|apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|cell projection organization (GO:0030030)|cell proliferation (GO:0008283)|cellular protein modification process (GO:0006464)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to granulocyte macrophage colony-stimulating factor stimulus (GO:0097011)|cellular response to hypoxia (GO:0071456)|cellular response to insulin stimulus (GO:0032869)|cellular response to mechanical stimulus (GO:0071260)|endocrine pancreas development (GO:0031018)|epidermal growth factor receptor signaling pathway (GO:0007173)|execution phase of apoptosis (GO:0097194)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|gene expression (GO:0010467)|germ cell development (GO:0007281)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glucose transport (GO:0015758)|glycogen biosynthetic process (GO:0005978)|glycogen cell differentiation involved in embryonic placenta development (GO:0060709)|hyaluronan metabolic process (GO:0030212)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|intracellular signal transduction (GO:0035556)|intrinsic apoptotic signaling pathway (GO:0097193)|labyrinthine layer blood vessel development (GO:0060716)|mammary gland epithelial cell differentiation (GO:0060644)|maternal placenta development (GO:0001893)|membrane organization (GO:0061024)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of autophagy (GO:0010507)|negative regulation of cell size (GO:0045792)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of fatty acid beta-oxidation (GO:0031999)|negative regulation of JNK cascade (GO:0046329)|negative regulation of neuron death (GO:1901215)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|negative regulation of plasma membrane long-chain fatty acid transport (GO:0010748)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of proteolysis (GO:0045861)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nitric oxide biosynthetic process (GO:0006809)|nitric oxide metabolic process (GO:0046209)|osteoblast differentiation (GO:0001649)|peptidyl-serine phosphorylation (GO:0018105)|peripheral nervous system myelin maintenance (GO:0032287)|phosphatidylinositol-mediated signaling (GO:0048015)|phosphorylation (GO:0016310)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell growth (GO:0030307)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of glucose import (GO:0046326)|positive regulation of glucose metabolic process (GO:0010907)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of lipid biosynthetic process (GO:0046889)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of sodium ion transport (GO:0010765)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasoconstriction (GO:0045907)|protein autophosphorylation (GO:0046777)|protein catabolic process (GO:0030163)|protein import into nucleus, translocation (GO:0000060)|protein kinase B signaling (GO:0043491)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cell cycle checkpoint (GO:1901976)|regulation of cell migration (GO:0030334)|regulation of glycogen biosynthetic process (GO:0005979)|regulation of neuron projection development (GO:0010975)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of translation (GO:0006417)|response to fluid shear stress (GO:0034405)|response to food (GO:0032094)|response to heat (GO:0009408)|response to UV-A (GO:0070141)|RNA metabolic process (GO:0016070)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|striated muscle cell differentiation (GO:0051146)|T cell costimulation (GO:0031295)|translation (GO:0006412)	cell-cell junction (GO:0005911)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle (GO:0005819)	14-3-3 protein binding (GO:0071889)|ATP binding (GO:0005524)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|kinase activity (GO:0016301)|nitric-oxide synthase regulator activity (GO:0030235)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)	p.E17K(102)		NS(3)|breast(97)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(7)|lung(10)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|thyroid(10)|urinary_tract(15)	176		all_cancers(154;3.77e-06)|all_lung(585;3.24e-07)|all_epithelial(191;3.45e-05)|all_neural(303;0.0459)|Melanoma(154;0.155)	all cancers(16;0.000486)|OV - Ovarian serous cystadenocarcinoma(23;0.00647)|Epithelial(46;0.0153)|GBM - Glioblastoma multiforme(11;0.116)	all cancers(159;0.0107)|OV - Ovarian serous cystadenocarcinoma(161;0.0132)|Epithelial(152;0.243)	Adenosine triphosphate(DB00171)|Arsenic trioxide(DB01169)	TTGATGTACTCCCCTACAGAC	0.612	E17K(KU1919_URINARY_TRACT)	1	Mis		"breast, colorectal, ovarian, NSCLC"																																	ENST00000554581.1	E17K(KU1919_URINARY_TRACT)	1		Dom	yes		14	14q32.32	207	Mis	v-akt murine thymoma viral oncogene homolog 1			E			"breast, colorectal, ovarian, NSCLC"		102	Substitution - Missense(102)	p.E17K(102)	breast(49)|urinary_tract(14)|thyroid(10)|endometrium(10)|lung(7)|large_intestine(4)|prostate(4)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|ovary(1)|NS(1)	NS(3)|breast(97)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(7)|lung(10)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|thyroid(10)|urinary_tract(15)	176						c.(49-51)Gag>Aag		v-akt murine thymoma viral oncogene homolog 1	Adenosine triphosphate(DB00171)|Arsenic trioxide(DB01169)						130	93	106					14																	105246551		2203	4300	6503	SO:0001583	missense	207				activation of pro-apoptotic gene products|activation-induced cell death of T cells|endocrine pancreas development|G-protein coupled receptor protein signaling pathway|glucose metabolic process|glycogen biosynthetic process|induction of apoptosis by intracellular signals|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|mRNA metabolic process|negative regulation of fatty acid beta-oxidation|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of protein kinase activity|nerve growth factor receptor signaling pathway|nitric oxide biosynthetic process|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of blood vessel endothelial cell migration|positive regulation of cell growth|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of establishment of protein localization in plasma membrane|positive regulation of fat cell differentiation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of lipid biosynthetic process|positive regulation of nitric oxide biosynthetic process|positive regulation of nitric-oxide synthase activity|positive regulation of peptidyl-serine phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|protein autophosphorylation|protein import into nucleus, translocation|regulation of neuron projection development|regulation of translation|response to fluid shear stress|response to heat|response to UV-A|T cell costimulation	cytosol|nucleoplasm|plasma membrane	enzyme binding|identical protein binding|nitric-oxide synthase regulator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|protein serine/threonine kinase activity	g.chr14:105246551C>T	M63167	CCDS9994.1	14q32.33	2014-09-17			ENSG00000142208	ENSG00000142208	2.7.11.1	"Pleckstrin homology (PH) domain containing"	391	protein-coding gene	gene with protein product		164730					Standard	XM_005267401		Approved	RAC, PKB, PRKBA, AKT	uc001ypn.3	P31749	OTTHUMG00000170795	ENST00000554581.1:c.49G>A	14.37:g.105246551C>T	ENSP00000451828:p.Glu17Lys					AKT1_ENST00000555528.1_Missense_Mutation_p.E17K|AKT1_ENST00000554848.1_Missense_Mutation_p.E17K|AKT1_ENST00000407796.2_Missense_Mutation_p.E17K|AKT1_ENST00000402615.2_Missense_Mutation_p.E17K|AKT1_ENST00000349310.3_Missense_Mutation_p.E17K	p.E17K			P31749	AKT1_HUMAN	all cancers(16;0.000486)|OV - Ovarian serous cystadenocarcinoma(23;0.00647)|Epithelial(46;0.0153)|GBM - Glioblastoma multiforme(11;0.116)	all cancers(159;0.0107)|OV - Ovarian serous cystadenocarcinoma(161;0.0132)|Epithelial(152;0.243)	2	1529	-		all_cancers(154;3.77e-06)|all_lung(585;3.24e-07)|all_epithelial(191;3.45e-05)|all_neural(303;0.0459)|Melanoma(154;0.155)	17		E -> K (in breast cancer; also detected in colorectal and ovarian cancer; somatic mutation; alters the PH domain conformation; results in activation of the protein; alters the subcellular location of the protein to the plasma membrane).	PH.		B2RAM5|B7Z5R1|Q9BWB6	Missense_Mutation	SNP	ENST00000554581.1	37	c.49G>A	CCDS9994.1	.	.	.	.	.	.	.	.	.	.	C	23.8	4.458989	0.84317	.	.	ENSG00000142208	ENST00000554581;ENST00000407796;ENST00000349310;ENST00000402615;ENST00000555528;ENST00000554848;ENST00000555926	T;T;T;T;T;T;T	0.37915	1.17;1.17;1.17;1.17;1.17;1.17;1.17	4.61	4.61	0.57282	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.85682	D	0.000000	T	0.59838	0.2223	M	0.71581	2.175	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.64411	-0.6414	10	0.72032	D	0.01	.	16.1757	0.81847	0.0:1.0:0.0:0.0	.	17	P31749	AKT1_HUMAN	K	17	ENSP00000451828:E17K;ENSP00000384293:E17K;ENSP00000270202:E17K;ENSP00000385326:E17K;ENSP00000450688:E17K;ENSP00000451166:E17K;ENSP00000451824:E17K	ENSP00000270202:E17K	E	-	1	0	AKT1	104317596	1.000000	0.71417	0.639000	0.29394	0.296000	0.27459	7.347000	0.79356	2.395000	0.81488	0.462000	0.41574	GAG		0.612	AKT1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410418.1	NM_005163		20	10	0	0	0	1	0	20	10					T	105246551	C	T	105246551	3	4	379	1	0	0	0	0	1	0	0	0	478	864	30	3	1441	3	AKT1	14	105246551	Missense_Mutation	SNP	C	TCGA-V1-A8WW-01A-11D-A377-08		105246551	2102989	25	18684											
TTBK2	146057	broad.mit.edu	37	chr15	43038000	43038000	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgcagcctggctcctatctgCtgagtttactggctggctta	5	14	11	11	0	1	1	0	1	1	0	2	1	2	1	2	3	4	6	2	3	3	4			TCGA-V1-A8WW-01A-11D-A377-08	TCGA-V1-A8WW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	637ce92c-479a-4333-a272-a3bc97468267	362152fc-c864-446f-b73d-3bd9926755b8	g.chr15:43038000C>T	ENST00000267890.6	-	15	3836	c.3728G>A	c.(3727-3729)aGc>aAc	p.S1243N	CTD-2036P10.3_ENST00000500850.2_lincRNA	NM_173500.3	NP_775771.3	Q6IQ55	TTBK2_HUMAN	tau tubulin kinase 2	1243					cell death (GO:0008219)|cilium assembly (GO:0042384)|peptidyl-serine phosphorylation (GO:0018105)|smoothened signaling pathway (GO:0007224)	centriole (GO:0005814)|ciliary basal body (GO:0036064)|ciliary transition zone (GO:0035869)|cytosol (GO:0005829)|extracellular space (GO:0005615)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	43		all_cancers(109;6.11e-16)|all_epithelial(112;5.5e-14)|Lung NSC(122;1.76e-08)|all_lung(180;6.04e-08)|Melanoma(134;0.0179)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;3.23e-07)		CTCCTATCTGCTGAGTTTACT	0.493																																						ENST00000267890.6																			0				NS(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	43						c.(3727-3729)aGc>aAc		tau tubulin kinase 2							110	118	115					15																	43038000		1954	4160	6114	SO:0001583	missense	146057				cell death		ATP binding|protein serine/threonine kinase activity	g.chr15:43038000C>T	AB020654	CCDS42029.1	15q15.2	2014-01-21			ENSG00000128881	ENSG00000128881			19141	protein-coding gene	gene with protein product		611695	"spinocerebellar ataxia 11"	SCA11		10048485	Standard	NM_173500		Approved	KIAA0847	uc001zqo.2	Q6IQ55	OTTHUMG00000175802	ENST00000267890.6:c.3728G>A	15.37:g.43038000C>T	ENSP00000267890:p.Ser1243Asn						p.S1243N	NM_173500.3	NP_775771.3	Q6IQ55	TTBK2_HUMAN		GBM - Glioblastoma multiforme(94;3.23e-07)	15	3836	-		all_cancers(109;6.11e-16)|all_epithelial(112;5.5e-14)|Lung NSC(122;1.76e-08)|all_lung(180;6.04e-08)|Melanoma(134;0.0179)|Colorectal(260;0.216)	1243					O94932|Q6ZN52|Q8IVV1	Missense_Mutation	SNP	ENST00000267890.6	37	c.3728G>A	CCDS42029.1	.	.	.	.	.	.	.	.	.	.	C	24.0	4.484423	0.84854	.	.	ENSG00000128881	ENST00000267890;ENST00000399479;ENST00000263802	T	0.56941	0.43	5.24	5.24	0.73138	.	0.000000	0.85682	D	0.000000	T	0.57242	0.2040	L	0.29908	0.895	0.80722	D	1	D	0.63880	0.993	P	0.54629	0.757	T	0.61377	-0.7075	10	0.87932	D	0	.	19.0161	0.92896	0.0:1.0:0.0:0.0	.	1243	Q6IQ55	TTBK2_HUMAN	N	1243;1173;1648	ENSP00000267890:S1243N	ENSP00000263802:S1648N	S	-	2	0	TTBK2	40825292	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.190000	0.65104	2.726000	0.93360	0.655000	0.94253	AGC		0.493	TTBK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000431106.2	NM_173500		29	56	0	0	0	1	0	29	56					T	43038000	C	T	43038000	3	4	379	1	0	0	0	0	1	0	0	0	16674	797	28	3	10	3	TTBK2	15	43038000	Missense_Mutation	SNP	C	TCGA-V1-A8WW-01A-11D-A377-08		43038000	59493392	26	18685											
STRC	161497	broad.mit.edu	37	chr15	43901532	43901532	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cttcttccagagaaactgtgCctacaagagaaagaaagacg	16	7	9	9	1	1	4	0	0	1	4	2	6	2	4	2	0	3	0	2	0	5	3			TCGA-V1-A8WW-01A-11D-A377-08	TCGA-V1-A8WW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	637ce92c-479a-4333-a272-a3bc97468267	362152fc-c864-446f-b73d-3bd9926755b8	g.chr15:43901532C>A	ENST00000450892.2	-	16	3576	c.3499G>T	c.(3499-3501)Gca>Tca	p.A1167S	STRC_ENST00000541030.1_Splice_Site_p.A394S	NM_153700.2	NP_714544.1	Q7RTU9	STRC_HUMAN	stereocilin	1167					auditory receptor cell stereocilium organization (GO:0060088)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)	kinocilium (GO:0060091)|stereocilium bundle tip (GO:0032426)				skin(4)	4		all_cancers(109;3.26e-15)|all_epithelial(112;1.48e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.56e-07)		AGAAACTGTGCCTACAAGAGA	0.522																																						ENST00000450892.2																			0				skin(4)	4						c.e16-1		stereocilin							86	99	95					15																	43901532		2167	4297	6464	SO:0001630	splice_region_variant	161497				sensory perception of sound	cell surface		g.chr15:43901532C>A	BK000138	CCDS10098.1	15q15.3	2010-02-26			ENSG00000242866	ENSG00000242866			16035	protein-coding gene	gene with protein product		606440		DFNB16		11687802, 9429146	Standard	NM_153700		Approved		uc001zsf.3	Q7RTU9	OTTHUMG00000059899	ENST00000450892.2:c.3499-1G>T	15.37:g.43901532C>A						STRC_ENST00000541030.1_Splice_Site_p.A394_splice	p.A1167_splice	NM_153700.2	NP_714544.1	Q7RTU9	STRC_HUMAN		GBM - Glioblastoma multiforme(94;3.56e-07)	16	3576	-		all_cancers(109;3.26e-15)|all_epithelial(112;1.48e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)	1167						Splice_Site	SNP	ENST00000450892.2	37	c.3498_splice	CCDS10098.1	.	.	.	.	.	.	.	.	.	.	C	15.26	2.780514	0.49891	.	.	ENSG00000242866	ENST00000450892;ENST00000299992;ENST00000541030	D;D	0.83591	-1.74;-1.53	4.51	4.51	0.55191	.	0.000000	0.64402	D	0.000014	D	0.84110	0.5400	L	0.27053	0.805	0.37268	D	0.907265	P;D	0.67145	0.782;0.996	B;D	0.75484	0.223;0.986	D	0.85099	0.0956	10	0.35671	T	0.21	-8.9126	12.748	0.57291	0.0:1.0:0.0:0.0	.	394;1167	F5GXA4;Q7RTU9	.;STRC_HUMAN	S	1167;1167;394	ENSP00000401513:A1167S;ENSP00000440413:A394S	ENSP00000299992:A1167S	A	-	1	0	STRC	41688824	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	1.172000	0.31908	2.061000	0.61500	0.556000	0.70494	GCA		0.522	STRC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133140.1	NM_153700	Missense_Mutation	4	68	1	0	1	1	1	4	68					A	43901532	C	A	43901532	5	1	379	1	0	0	0	0	0	0	1	0	15327	753	26	5	1884	5	STRC	15	43901532	Splice_Site	SNP	C	TCGA-V1-A8WW-01A-11D-A377-08	863532	43901532	58629860	27	18686											
ZNF609	23060	broad.mit.edu	37	chr15	64966530	64966530	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acagaaactgcccctcccccGtcctaattgactgtccccac	9	8	5	19	1	0	2	0	1	0	1	3	2	3	2	7	0	2	0	7	0	2	2	rs200890644		TCGA-V1-A8WW-01A-11D-A377-08	TCGA-V1-A8WW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	637ce92c-479a-4333-a272-a3bc97468267	362152fc-c864-446f-b73d-3bd9926755b8	g.chr15:64966530G>A	ENST00000326648.3	+	4	1605	c.1477G>A	c.(1477-1479)Gtc>Atc	p.V493I	RNU6-549P_ENST00000384433.1_RNA|ZNF609_ENST00000559364.1_3'UTR	NM_015042.1	NP_055857.1	O15014	ZN609_HUMAN	zinc finger protein 609	493						nucleus (GO:0005634)	metal ion binding (GO:0046872)			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						CCCCTCCCCCGTCCTAATTGA	0.522													G|||	1	0.000199681	0	0	5008	,	,		18089	0		0	False		,,,				2504	0.001					ENST00000326648.3																			0				breast(3)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						c.(1477-1479)Gtc>Atc		zinc finger protein 609		G	ILE/VAL	0,4406		0,0,2203	85	70	75		1477	5.6	1	15		75	6,8592	5.0+/-18.6	0,6,4293	yes	missense	ZNF609	NM_015042.1	29	0,6,6496	AA,AG,GG		0.0698,0.0,0.0461	benign	493/1412	64966530	6,12998	2203	4299	6502	SO:0001583	missense	23060					nucleus	zinc ion binding	g.chr15:64966530G>A	BC014251	CCDS32270.1	15q22.1	2008-05-02				ENSG00000180357		"Zinc fingers, C2H2-type"	29003	protein-coding gene	gene with protein product						9205841	Standard	NM_015042		Approved	KIAA0295	uc002ann.3	O15014		ENST00000326648.3:c.1477G>A	15.37:g.64966530G>A	ENSP00000316527:p.Val493Ile					ZNF609_ENST00000559364.1_3'UTR	p.V493I	NM_015042.1	NP_055857.1	O15014	ZN609_HUMAN			4	1605	+			493					Q0D2I2	Missense_Mutation	SNP	ENST00000326648.3	37	c.1477G>A	CCDS32270.1	.	.	.	.	.	.	.	.	.	.	G	11.90	1.775434	0.31411	0.0	6.98E-4	ENSG00000180357	ENST00000326648	T	0.53857	0.6	5.61	5.61	0.85477	.	0.108019	0.64402	D	0.000006	T	0.38558	0.1045	L	0.33093	0.98	0.46849	D	0.999221	B	0.10296	0.003	B	0.13407	0.009	T	0.25676	-1.0125	10	0.33940	T	0.23	-11.9829	7.3316	0.26586	0.2008:0.0:0.7992:0.0	.	493	O15014	ZN609_HUMAN	I	493	ENSP00000316527:V493I	ENSP00000316527:V493I	V	+	1	0	ZNF609	62753583	1.000000	0.71417	0.987000	0.45799	0.989000	0.77384	4.442000	0.59988	2.638000	0.89438	0.650000	0.86243	GTC		0.522	ZNF609-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418130.1	XM_042833		17	20	0	0	0	1	0	17	20					A	64966530	G	A	64966530	3	1	379	1	0	0	0	0	1	0	0	0	18032	1145	40	1	1491	1	ZNF609	15	64966530	Missense_Mutation	SNP	G	TCGA-V1-A8WW-01A-11D-A377-08	21064998	64966530	37564862	28	18687											
SLC28A1	9154	broad.mit.edu	37	chr15	85461836	85461836	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tgcagtgggtgatcctgaagGtaagttcccagtgcccatgg	8	10	14	9	0	0	2	0	2	0	0	2	2	2	2	3	3	2	3	3	3	2	2			TCGA-V1-A8WW-01A-11D-A377-08	TCGA-V1-A8WW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	637ce92c-479a-4333-a272-a3bc97468267	362152fc-c864-446f-b73d-3bd9926755b8	g.chr15:85461836G>T	ENST00000286749.3	+	9	966		c.e9+1		SLC28A1_ENST00000537703.1_Splice_Site|SLC28A1_ENST00000538177.1_Splice_Site|SLC28A1_ENST00000394573.1_Splice_Site|SLC28A1_ENST00000537216.1_Splice_Site|SLC28A1_ENST00000537624.1_Splice_Site			O00337	S28A1_HUMAN	solute carrier family 28 (concentrative nucleoside transporter), member 1						nucleobase-containing compound metabolic process (GO:0006139)|nucleoside transmembrane transport (GO:1901642)|nucleoside transport (GO:0015858)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	nucleoside binding (GO:0001882)|nucleoside transmembrane transporter activity (GO:0005337)|nucleoside:sodium symporter activity (GO:0005415)			breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	41			BRCA - Breast invasive adenocarcinoma(143;0.0587)		Gemcitabine(DB00441)|Stavudine(DB00649)|Zidovudine(DB00495)	GATCCTGAAGGTAAGTTCCCA	0.562																																						ENST00000394573.1																			0				breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	41						c.e10+1		solute carrier family 28 (concentrative nucleoside transporter), member 1							206	180	189					15																	85461836		2203	4299	6502	SO:0001630	splice_region_variant	9154				nucleobase, nucleoside and nucleotide metabolic process	integral to plasma membrane|membrane fraction	nucleoside binding	g.chr15:85461836G>T	U62967	CCDS10334.1, CCDS10335.1, CCDS73777.1	15q25.3	2013-07-17	2013-07-17		ENSG00000156222	ENSG00000156222		"Solute carriers"	11001	protein-coding gene	gene with protein product		606207	"solute carrier family 28 (sodium-coupled nucleoside transporter), member 1"			9124315	Standard	NM_004213		Approved	CNT1	uc002blg.3	O00337	OTTHUMG00000148668	ENST00000286749.3:c.876+1G>T	15.37:g.85461836G>T						SLC28A1_ENST00000537624.1_Splice_Site|SLC28A1_ENST00000537216.1_Splice_Site|SLC28A1_ENST00000538177.1_Splice_Site|SLC28A1_ENST00000537703.1_Splice_Site|SLC28A1_ENST00000286749.3_Splice_Site		NM_004213.3	NP_004204.3	O00337	S28A1_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0587)		10	1078	+								A0AV42|A8K7I2|O00335|O00336|Q5U5S6|Q5U648|Q9UEZ9	Splice_Site	SNP	ENST00000286749.3	37		CCDS10334.1	.	.	.	.	.	.	.	.	.	.	G	19.66	3.868353	0.72065	.	.	ENSG00000156222	ENST00000537216;ENST00000538177;ENST00000537624;ENST00000286749;ENST00000394573;ENST00000537703	.	.	.	4.21	4.21	0.49690	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.1206	0.65184	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SLC28A1	83262840	1.000000	0.71417	1.000000	0.80357	0.867000	0.49689	8.652000	0.91083	2.174000	0.68829	0.655000	0.94253	.		0.562	SLC28A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000308998.2		Intron	26	34	1	0	2.61193e-14	1	3.08683e-14	26	34					T	85461836	G	T	85461836	5	4	379	1	0	0	0	0	0	0	1	0	14531	1275	44	5	978	5	SLC28A1	15	85461836	Splice_Site	SNP	G	TCGA-V1-A8WW-01A-11D-A377-08	20495306	85461836	17069556	29	18688											
RGS11	8786	broad.mit.edu	37	chr16	321439	321439	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttcactcgggtcctgcccagCgctttcctgaagtactcgat	6	12	9	14	3	1	1	1	1	0	0	5	2	3	1	3	1	3	2	3	1	2	3			TCGA-V1-A8WW-01A-11D-A377-08	TCGA-V1-A8WW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	637ce92c-479a-4333-a272-a3bc97468267	362152fc-c864-446f-b73d-3bd9926755b8	g.chr16:321439C>A	ENST00000397770.3	-	11	725	c.708G>T	c.(706-708)gcG>gcT	p.A236A	RGS11_ENST00000359740.5_Silent_p.A225A|ARHGDIG_ENST00000464609.1_Intron|RGS11_ENST00000316163.5_Silent_p.A215A			O94810	RGS11_HUMAN	regulator of G-protein signaling 11	236	G protein gamma.				G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|positive regulation of GTPase activity (GO:0043547)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|dendrite terminus (GO:0044292)|heterotrimeric G-protein complex (GO:0005834)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	G-protein beta-subunit binding (GO:0031681)|GTPase activator activity (GO:0005096)|signal transducer activity (GO:0004871)			endometrium(1)|kidney(1)|lung(4)|ovary(1)|pancreas(1)	8		all_cancers(16;6.71e-07)|all_epithelial(16;1.59e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00769)|all_lung(18;0.0186)				TCCTGCCCAGCGCTTTCCTGA	0.647																																						ENST00000397770.3																			0				endometrium(1)|kidney(1)|lung(4)|ovary(1)|pancreas(1)	8						c.(706-708)gcG>gcT		regulator of G-protein signaling 11							80	75	77					16																	321439		2203	4300	6503	SO:0001819	synonymous_variant	8786				G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|signal transducer activity	g.chr16:321439C>A	AF035153	CCDS10403.1, CCDS42088.1, CCDS66884.1	16p13.3	2008-07-28	2007-08-14		ENSG00000076344	ENSG00000076344		"Regulators of G-protein signaling"	9993	protein-coding gene	gene with protein product		603895	"regulator of G-protein signalling 11"			9789084	Standard	NM_001286486		Approved		uc002cgj.1	O94810	OTTHUMG00000064893	ENST00000397770.3:c.708G>T	16.37:g.321439C>A						ARHGDIG_ENST00000464609.1_Intron|RGS11_ENST00000359740.5_Silent_p.A225A|RGS11_ENST00000316163.5_Silent_p.A215A	p.A236A			O94810	RGS11_HUMAN			11	725	-		all_cancers(16;6.71e-07)|all_epithelial(16;1.59e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00769)|all_lung(18;0.0186)	236			G protein gamma.		O75883|Q4TT71|Q4TT72	Silent	SNP	ENST00000397770.3	37	c.708G>T	CCDS42088.1																																																																																				0.647	RGS11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139325.2			12	16	1	0	4.3838e-07	1	4.9556e-07	12	16					A	321439	C	A	321439	2	1	379	1	0	0	0	0	0	0	0	1	13294	755	27	5		5	RGS11	16	321439	Silent	SNP	C	TCGA-V1-A8WW-01A-11D-A377-08		321439	90033314	30	18689											
ITGAL	3683	broad.mit.edu	37	chr16	30500700	30500700	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acaccagaagtgagagcaggCtatttgggtgagtacttctc	11	10	12	8	0	1	3	0	2	1	2	2	4	1	3	1	2	2	3	1	2	3	4			TCGA-V1-A8WW-01A-11D-A377-08	TCGA-V1-A8WW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	637ce92c-479a-4333-a272-a3bc97468267	362152fc-c864-446f-b73d-3bd9926755b8	g.chr16:30500700C>A	ENST00000356798.6	+	11	1386	c.1206C>A	c.(1204-1206)ggC>ggA	p.G402G	ITGAL_ENST00000568012.1_Intron|ITGAL_ENST00000358164.5_Silent_p.G319G|ITGAL_ENST00000433423.2_Intron|RP11-297C4.2_ENST00000569459.1_RNA	NM_002209.2	NP_002200.2	P20701	ITAL_HUMAN	integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide)	402					activated T cell proliferation (GO:0050798)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|cellular component movement (GO:0006928)|extracellular matrix organization (GO:0030198)|heterophilic cell-cell adhesion (GO:0007157)|inflammatory response (GO:0006954)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of T cell proliferation (GO:0042102)|receptor clustering (GO:0043113)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell (GO:0002291)	cell surface (GO:0009986)|cell-cell junction (GO:0005911)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|integrin alphaL-beta2 complex (GO:0034687)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|ICAM-3 receptor activity (GO:0030369)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	76					Antithymocyte globulin(DB00098)|Efalizumab(DB00095)|Lovastatin(DB00227)	TGAGAGCAGGCTATTTGGGTG	0.488																																					NSCLC(110;1462 1641 3311 33990 49495)	ENST00000356798.6																			0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	76						c.(1204-1206)ggC>ggA		integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide)	Efalizumab(DB00095)						144	135	138					16																	30500700		2197	4300	6497	SO:0001819	synonymous_variant	0				blood coagulation|heterophilic cell-cell adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell	integrin complex	cell adhesion molecule binding|receptor activity	g.chr16:30500700C>A		CCDS32433.1, CCDS45461.1	16p13.1-p11	2010-03-23				ENSG00000005844		"CD molecules", "Integrins"	6148	protein-coding gene	gene with protein product		153370		CD11A		3284962	Standard	NM_002209		Approved	LFA-1	uc002dyi.4	P20701		ENST00000356798.6:c.1206C>A	16.37:g.30500700C>A						ITGAL_ENST00000568012.1_Intron|ITGAL_ENST00000433423.2_Intron|ITGAL_ENST00000358164.5_Silent_p.G319G	p.G402G	NM_002209.2	NP_002200.2	P20701	ITAL_HUMAN			11	1386	+			402					O43746|Q45H73|Q96HB1|Q9UBC8	Silent	SNP	ENST00000356798.6	37	c.1206C>A	CCDS32433.1																																																																																				0.488	ITGAL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434508.2			7	31	1	0	1.06961e-07	1	1.236e-07	7	31					A	30500700	C	A	30500700	2	1	379	1	0	0	0	0	0	0	0	1	7886	784	28	5		5	ITGAL	16	30500700	Silent	SNP	C	TCGA-V1-A8WW-01A-11D-A377-08	30179261	30500700	59854053	31	18690											
SRCAP	10847	broad.mit.edu	37	chr16	30724642	30724642	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tatctcattctggatgaggcGcagaacatcaagaacttcaa	14	10	8	9	1	4	3	3	1	2	2	5	4	4	4	0	2	2	1	0	2	5	3	rs138153762		TCGA-V1-A8WW-01A-11D-A377-08	TCGA-V1-A8WW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	637ce92c-479a-4333-a272-a3bc97468267	362152fc-c864-446f-b73d-3bd9926755b8	g.chr16:30724642G>A	ENST00000262518.4	+	15	2629	c.2244G>A	c.(2242-2244)gcG>gcA	p.A748A	SNORA30_ENST00000384028.1_RNA|SRCAP_ENST00000395059.2_Silent_p.A748A|SRCAP_ENST00000344771.4_Silent_p.A748A	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	748	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				histone acetylation (GO:0016573)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)	p.A748A(1)		NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			TGGATGAGGCGCAGAACATCA	0.522																																						ENST00000262518.4																			1	Substitution - coding silent(1)	p.A748A(1)	large_intestine(1)	NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136						c.(2242-2244)gcG>gcA		Snf2-related CREBBP activator protein		G		1,4393	2.1+/-5.4	0,1,2196	124	110	115		2244	-1.2	1	16	dbSNP_134	115	0,8600		0,0,4300	no	coding-synonymous	SRCAP	NM_006662.2		0,1,6496	AA,AG,GG		0.0,0.0228,0.0077		748/3231	30724642	1,12993	2197	4300	6497	SO:0001819	synonymous_variant	10847				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity	g.chr16:30724642G>A	AB002307	CCDS10689.2	16p11.2	2009-08-06			ENSG00000080603	ENSG00000080603			16974	protein-coding gene	gene with protein product	"Swi2/Snf2-related ATPase homolog (S. cerevisiae)", "domino homolog 1 (Drosophila)"	611421				10347196, 9205841	Standard	NM_006662		Approved	KIAA0309, EAF1, SWR1, DOMO1	uc002dze.1	Q6ZRS2	OTTHUMG00000132393	ENST00000262518.4:c.2244G>A	16.37:g.30724642G>A						SRCAP_ENST00000344771.4_Silent_p.A748A|SRCAP_ENST00000395059.2_Silent_p.A748A	p.A748A	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Colorectal(24;0.198)		15	2629	+			748			Helicase ATP-binding.		B0JZA6|O15026|Q7Z744|Q9Y5L9	Silent	SNP	ENST00000262518.4	37	c.2244G>A	CCDS10689.2																																																																																				0.522	SRCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255523.1	NM_006662		3	73	0	0	0	1	0	3	73					A	30724642	G	A	30724642	2	1	379	1	0	0	0	0	0	0	0	1	15134	1074	38	1		1	SRCAP	16	30724642	Silent	SNP	G	TCGA-V1-A8WW-01A-11D-A377-08	223942	30724642	59630111	32	18691											
ZNF286A	57335	broad.mit.edu	37	chr17	15619875	15619875	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgcaatgaatgtgggaaatcTtttagccacagagctaattt	13	13	9	6	0	1	2	0	1	1	1	1	3	1	3	1	1	3	2	1	1	5	4			TCGA-V1-A8WW-01A-11D-A377-08	TCGA-V1-A8WW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	637ce92c-479a-4333-a272-a3bc97468267	362152fc-c864-446f-b73d-3bd9926755b8	g.chr17:15619875T>G	ENST00000464847.2	+	5	1390	c.837T>G	c.(835-837)tcT>tcG	p.S279S	ZNF286A_ENST00000593105.1_Silent_p.S269S|ZNF286A_ENST00000395894.2_3'UTR|ZNF286A_ENST00000421016.1_Silent_p.S279S|ZNF286A_ENST00000585171.1_Intron|ZNF286A_ENST00000583566.1_Silent_p.S279S|ZNF286A_ENST00000413242.2_Silent_p.S279S			Q9HBT8	Z286A_HUMAN	zinc finger protein 286A	279					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24				UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)|READ - Rectum adenocarcinoma(1115;0.0222)|BRCA - Breast invasive adenocarcinoma(8;0.0781)		GTGGGAAATCTTTTAGCCACA	0.408																																						ENST00000464847.2																			0				central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24						c.(835-837)tcT>tcG		zinc finger protein 286A							42	44	43					17																	15619875		2200	4295	6495	SO:0001819	synonymous_variant	57335				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr17:15619875T>G	AF217226	CCDS11172.1, CCDS73997.1	17p11.2	2013-02-14	2007-01-05	2007-01-05		ENSG00000187607		"Zinc fingers, C2H2-type", "-"	13501	protein-coding gene	gene with protein product			"zinc finger protein 286"	ZNF286		11347906	Standard	NM_020652		Approved	KIAA1874	uc010cot.3	Q9HBT8	OTTHUMG00000166448	ENST00000464847.2:c.837T>G	17.37:g.15619875T>G						ZNF286A_ENST00000413242.2_Silent_p.S279S|ZNF286A_ENST00000593105.1_Silent_p.S269S|ZNF286A_ENST00000585171.1_Intron|ZNF286A_ENST00000583566.1_Silent_p.S279S|ZNF286A_ENST00000421016.1_Silent_p.S279S|ZNF286A_ENST00000395894.2_3'UTR	p.S279S			Q9HBT8	Z286A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)|READ - Rectum adenocarcinoma(1115;0.0222)|BRCA - Breast invasive adenocarcinoma(8;0.0781)	5	1390	+			279					B4DKF9|Q96JF3	Silent	SNP	ENST00000464847.2	37	c.837T>G	CCDS11172.1																																																																																				0.408	ZNF286A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130696.4	NM_020652		21	36	0	0	0	1	0	21	36					G	15619875	T	G	15619875	2	3	379	1	0	0	0	0	0	0	0	1	17820	1596	56	5		5	ZNF286A	17	15619875	Silent	SNP	T	TCGA-V1-A8WW-01A-11D-A377-08		15619875	65575335	33	18692											
TYMS	7298	broad.mit.edu	37	chr18	670815	670815	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcggtgtgcctttcaacaTcgccagctacgccctgctca	6	10	8	17	3	2	0	2	0	0	0	4	0	2	0	4	1	5	2	4	1	2	2			TCGA-V1-A8WW-01A-11D-A377-08	TCGA-V1-A8WW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	637ce92c-479a-4333-a272-a3bc97468267	362152fc-c864-446f-b73d-3bd9926755b8	g.chr18:670815T>A	ENST00000323274.10	+	5	819	c.680T>A	c.(679-681)aTc>aAc	p.I227N	TYMS_ENST00000323250.5_Missense_Mutation_p.I144N|TYMS_ENST00000581920.1_3'UTR|TYMS_ENST00000323224.7_Missense_Mutation_p.I193N	NM_001071.2	NP_001062.1	P04818	TYSY_HUMAN	thymidylate synthetase	227					aging (GO:0007568)|cartilage development (GO:0051216)|circadian rhythm (GO:0007623)|deoxyribonucleoside monophosphate biosynthetic process (GO:0009157)|developmental growth (GO:0048589)|dTMP biosynthetic process (GO:0006231)|dTTP biosynthetic process (GO:0006235)|dUMP metabolic process (GO:0046078)|G1/S transition of mitotic cell cycle (GO:0000082)|immortalization of host cell by virus (GO:0019088)|intestinal epithelial cell maturation (GO:0060574)|mitotic cell cycle (GO:0000278)|nucleobase-containing compound metabolic process (GO:0006139)|nucleobase-containing small molecule metabolic process (GO:0055086)|organ regeneration (GO:0031100)|polysaccharide metabolic process (GO:0005976)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside biosynthetic process (GO:0046134)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to folic acid (GO:0051593)|response to glucocorticoid (GO:0051384)|response to organophosphorus (GO:0046683)|response to progesterone (GO:0032570)|response to toxic substance (GO:0009636)|response to vitamin A (GO:0033189)|small molecule metabolic process (GO:0044281)|tetrahydrofolate metabolic process (GO:0046653)|uracil metabolic process (GO:0019860)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	cofactor binding (GO:0048037)|drug binding (GO:0008144)|folic acid binding (GO:0005542)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|thymidylate synthase activity (GO:0004799)			endometrium(1)|large_intestine(3)|lung(2)|urinary_tract(2)	8					Capecitabine(DB01101)|Floxuridine(DB00322)|Fluorouracil(DB00544)|Gemcitabine(DB00441)|Leucovorin(DB00650)|Methotrexate(DB00563)|Pemetrexed(DB00642)|Pralatrexate(DB06813)|Raltitrexed(DB00293)|Trifluridine(DB00432)|Trimethoprim(DB00440)	CCTTTCAACATCGCCAGCTAC	0.592																																						ENST00000323274.10																			0				endometrium(1)|large_intestine(3)|lung(2)|urinary_tract(2)	8						c.(679-681)aTc>aAc		thymidylate synthetase	Capecitabine(DB01101)|Floxuridine(DB00322)|Fluorouracil(DB00544)|Gemcitabine(DB00441)|Leucovorin(DB00650)|Pemetrexed(DB00642)|Raltitrexed(DB00293)|Trifluridine(DB00432)						167	130	142					18																	670815		2203	4300	6503	SO:0001583	missense	7298				DNA repair|DNA replication|phosphatidylinositol-mediated signaling|pyrimidine base metabolic process|pyrimidine nucleoside biosynthetic process|regulation of transcription involved in G1/S phase of mitotic cell cycle|response to organophosphorus	cytosol	thymidylate synthase activity	g.chr18:670815T>A	X02308	CCDS11821.1	18p11.31-p11.21	2014-09-17			ENSG00000176890	ENSG00000176890	2.1.1.45		12441	protein-coding gene	gene with protein product		188350		TS			Standard	NM_001071		Approved	Tsase, TMS, HsT422	uc010dka.1	P04818	OTTHUMG00000131473	ENST00000323274.10:c.680T>A	18.37:g.670815T>A	ENSP00000315644:p.Ile227Asn					TYMS_ENST00000323250.5_Missense_Mutation_p.I144N|TYMS_ENST00000581920.1_3'UTR|TYMS_ENST00000323224.7_Missense_Mutation_p.I193N	p.I227N	NM_001071.2	NP_001062.1	P04818	TYSY_HUMAN			5	819	+			227					Q8WYK3|Q8WYK4	Missense_Mutation	SNP	ENST00000323274.10	37	c.680T>A	CCDS11821.1	.	.	.	.	.	.	.	.	.	.	T	20.4	3.980825	0.74474	.	.	ENSG00000176890	ENST00000323274;ENST00000323224;ENST00000323250	.	.	.	6.09	4.92	0.64577	Thymidylate synthase/dCMP hydroxymethylase domain (2);	0.044989	0.85682	D	0.000000	D	0.88247	0.6385	H	0.98577	4.27	0.80722	D	1	D;D;D	0.89917	1.0;0.998;1.0	D;D;D	0.97110	1.0;0.983;0.999	D	0.91263	0.5038	9	0.87932	D	0	-1.555	12.3381	0.55079	0.0:0.0659:0.0:0.9341	.	144;193;227	Q8WYK4;Q8WYK3;P04818	.;.;TYSY_HUMAN	N	227;193;144	.	ENSP00000314727:I193N	I	+	2	0	TYMS	660815	1.000000	0.71417	0.916000	0.36221	0.993000	0.82548	7.871000	0.87180	1.110000	0.41699	0.533000	0.62120	ATC		0.592	TYMS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254316.1	NM_001071		38	31	0	0	0	1	0	38	31					A	670815	T	A	670815	3	1	379	1	0	0	0	0	1	0	0	0	16809	1435	50	5	698	5	TYMS	18	670815	Missense_Mutation	SNP	T	TCGA-V1-A8WW-01A-11D-A377-08		670815	77406433	34	18693											
C18orf62	284274	broad.mit.edu	37	chr18	73122856	73122856	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgttcctggatgacttcaaaCgtagaaagctgcaagagaca	14	9	10	8	1	1	3	1	1	0	2	2	5	2	4	1	1	3	4	1	1	4	3	rs148196575		TCGA-V1-A8WW-01A-11D-A377-08	TCGA-V1-A8WW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	637ce92c-479a-4333-a272-a3bc97468267	362152fc-c864-446f-b73d-3bd9926755b8	g.chr18:73122856C>T	ENST00000579022.1	-	3	408	c.269G>A	c.(268-270)cGt>cAt	p.R90H	SMIM21_ENST00000382638.3_Silent_p.T46T|RP11-321M21.3_ENST00000579386.1_Intron|RP11-321M21.3_ENST00000578340.1_Intron	NM_001037331.2	NP_001032408.1	Q3B7S5	SMI21_HUMAN	small integral membrane protein 21	90						integral component of membrane (GO:0016021)											TGACTTCAAACGTAGAAAGCT	0.343																																						ENST00000579022.1																			0											c.(268-270)cGt>cAt		small integral membrane protein 21		C	HIS/ARG	0,4406		0,0,2203	118	114	115		269	-7.4	0	18	dbSNP_134	115	1,8599	1.2+/-3.3	0,1,4299	no	missense	C18orf62	NM_001037331.2	29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging	90/102	73122856	1,13005	2203	4300	6503	SO:0001583	missense	284274							g.chr18:73122856C>T		CCDS32845.1	18q23	2013-03-11	2013-03-11	2013-03-11	ENSG00000206026	ENSG00000206026			27598	protein-coding gene	gene with protein product			"chromosome 18 open reading frame 62"	C18orf62			Standard	NM_001037331		Approved		uc002lma.1	Q3B7S5	OTTHUMG00000179126	ENST00000579022.1:c.269G>A	18.37:g.73122856C>T	ENSP00000462106:p.Arg90His					RP11-321M21.3_ENST00000578340.1_Intron|RP11-321M21.3_ENST00000579386.1_Intron|SMIM21_ENST00000382638.3_Silent_p.T46T	p.R90H	NM_001037331.2	NP_001032408.1					3	408	-									Missense_Mutation	SNP	ENST00000579022.1	37	c.269G>A	CCDS32845.1	.	.	.	.	.	.	.	.	.	.	C	9.076	0.998094	0.19043	0.0	1.16E-4	ENSG00000206026	ENST00000382638	.	.	.	3.68	-7.37	0.01412	.	.	.	.	.	T	0.22126	0.0533	N	0.08118	0	0.80722	D	1	B	0.10296	0.003	B	0.04013	0.001	T	0.19679	-1.0298	8	0.87932	D	0	.	1.9774	0.03418	0.1378:0.4046:0.2394:0.2182	.	90	Q3B7S5	CR062_HUMAN	H	90	.	ENSP00000372083:R90H	R	-	2	0	C18orf62	71251844	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.671000	0.01954	-0.140000	0.11394	-0.457000	0.05445	CGT		0.343	SMIM21-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000444917.1	NM_001037331		3	21	0	0	0	1	0	3	21					T	73122856	C	T	73122856	3	4	379	1	0	0	0	0	1	0	0	0	1906	536	19	1	40	1	C18orf62	18	73122856	Missense_Mutation	SNP	C	TCGA-V1-A8WW-01A-11D-A377-08	72452041	73122856	4954392	35	18694											
MAN2B1	4125	broad.mit.edu	37	chr19	12769127	12769127	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaactggtgggggccatccgCgtaagggaagaagtcgtcat	10	7	16	8	3	1	1	1	0	0	1	3	3	2	2	2	4	1	1	2	4	4	1			TCGA-V1-A8WW-01A-11D-A377-08	TCGA-V1-A8WW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	637ce92c-479a-4333-a272-a3bc97468267	362152fc-c864-446f-b73d-3bd9926755b8	g.chr19:12769127C>T	ENST00000456935.2	-	9	1181	c.1141G>A	c.(1141-1143)Gcg>Acg	p.A381T	MAN2B1_ENST00000495617.1_Intron|MAN2B1_ENST00000221363.4_Missense_Mutation_p.A380T	NM_000528.3|NM_001173498.1	NP_000519.2|NP_001166969.1	O00754	MA2B1_HUMAN	mannosidase, alpha, class 2B, member 1	381					cellular protein modification process (GO:0006464)|mannose metabolic process (GO:0006013)|protein deglycosylation (GO:0006517)	extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	alpha-mannosidase activity (GO:0004559)|carbohydrate binding (GO:0030246)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						GGGCCATCCGCGTAAGGGAAG	0.617																																						ENST00000456935.2																			0				breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						c.(1141-1143)Gcg>Acg		mannosidase, alpha, class 2B, member 1							64	68	67					19																	12769127		2203	4300	6503	SO:0001583	missense	4125				protein deglycosylation	lysosome	alpha-mannosidase activity|zinc ion binding	g.chr19:12769127C>T		CCDS32919.1, CCDS54224.1	19p13.2	2013-09-20			ENSG00000104774	ENSG00000104774	3.2.1.24		6826	protein-coding gene	gene with protein product		609458		MANB			Standard	NM_000528		Approved	LAMAN	uc002mub.2	O00754	OTTHUMG00000156397	ENST00000456935.2:c.1141G>A	19.37:g.12769127C>T	ENSP00000395473:p.Ala381Thr					MAN2B1_ENST00000495617.1_Intron|MAN2B1_ENST00000221363.4_Missense_Mutation_p.A380T	p.A381T	NM_000528.3|NM_001173498.1	NP_000519.2|NP_001166969.1	O00754	MA2B1_HUMAN			9	1181	-			381					G5E928|O15330|Q16680|Q93094|Q9BW13	Missense_Mutation	SNP	ENST00000456935.2	37	c.1141G>A	CCDS32919.1	.	.	.	.	.	.	.	.	.	.	C	34	5.398417	0.96030	.	.	ENSG00000104774	ENST00000456935;ENST00000536796;ENST00000221363	T;T	0.80738	-1.41;-1.41	5.33	5.33	0.75918	Glycoside hydrolase/deacetylase, beta/alpha-barrel (1);Glycoside hydrolase, family 38, core (2);	0.000000	0.42294	D	0.000730	D	0.90222	0.6943	M	0.83312	2.635	0.80722	D	1	D;D	0.89917	1.0;0.994	D;P	0.81914	0.995;0.877	D	0.91550	0.5256	10	0.87932	D	0	-8.818	16.5676	0.84602	0.0:1.0:0.0:0.0	.	380;381	G5E928;O00754	.;MA2B1_HUMAN	T	381;320;380	ENSP00000395473:A381T;ENSP00000221363:A380T	ENSP00000221363:A380T	A	-	1	0	MAN2B1	12630127	1.000000	0.71417	0.786000	0.31890	0.817000	0.46193	5.660000	0.68018	2.503000	0.84419	0.460000	0.39030	GCG		0.617	MAN2B1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000344062.1			21	45	0	0	0	1	0	21	45					T	12769127	C	T	12769127	3	4	379	1	0	0	0	0	1	0	0	0	9216	768	27	1	1958	1	MAN2B1	19	12769127	Missense_Mutation	SNP	C	TCGA-V1-A8WW-01A-11D-A377-08		12769127	46359856	36	18695											
NLRP13	126204	broad.mit.edu	37	chr19	56421986	56421986	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	caagacagagacccttcacaGaggaagcatgaagtttgctg	14	7	11	9	0	1	4	1	1	0	3	1	6	1	5	1	1	2	3	1	1	3	2			TCGA-V1-A8WW-01A-11D-A377-08	TCGA-V1-A8WW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	637ce92c-479a-4333-a272-a3bc97468267	362152fc-c864-446f-b73d-3bd9926755b8	g.chr19:56421986G>A	ENST00000342929.3	-	6	2224	c.2225C>T	c.(2224-2226)tCt>tTt	p.S742F	NLRP13_ENST00000588751.1_Missense_Mutation_p.S742F	NM_176810.2	NP_789780.2	Q86W25	NAL13_HUMAN	NLR family, pyrin domain containing 13	742							ATP binding (GO:0005524)			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		ACCCTTCACAGAGGAAGCATG	0.468																																						ENST00000588751.1																			0				NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109						c.(2224-2226)tCt>tTt		NLR family, pyrin domain containing 13							173	152	159					19																	56421986		2203	4300	6503	SO:0001583	missense	126204						ATP binding	g.chr19:56421986G>A	AY154468	CCDS33119.1	19q13.43	2008-02-05	2006-12-08	2006-12-08	ENSG00000173572	ENSG00000173572		"Nucleotide-binding domain and leucine rich repeat containing"	22937	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 13"	609660	"NACHT, leucine rich repeat and PYD containing 13"	NALP13		12563287	Standard	NM_176810		Approved	NOD14, PAN13, CLR19.7	uc010ygg.2	Q86W25	OTTHUMG00000167839	ENST00000342929.3:c.2225C>T	19.37:g.56421986G>A	ENSP00000343891:p.Ser742Phe					NLRP13_ENST00000342929.3_Missense_Mutation_p.S742F	p.S742F			Q86W25	NAL13_HUMAN		GBM - Glioblastoma multiforme(193;0.0642)	6	2249	-		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)	742					Q7RTR5	Missense_Mutation	SNP	ENST00000342929.3	37	c.2225C>T	CCDS33119.1	.	.	.	.	.	.	.	.	.	.	G	9.040	0.989524	0.18966	.	.	ENSG00000173572	ENST00000342929	T	0.54675	0.56	2.96	1.78	0.24846	.	.	.	.	.	T	0.34890	0.0913	L	0.31476	0.935	0.09310	N	1	B	0.33266	0.404	B	0.28638	0.092	T	0.15122	-1.0448	9	0.37606	T	0.19	.	7.2145	0.25951	0.0:0.2795:0.7205:0.0	.	742	Q86W25	NAL13_HUMAN	F	742	ENSP00000343891:S742F	ENSP00000343891:S742F	S	-	2	0	NLRP13	61113798	0.000000	0.05858	0.007000	0.13788	0.005000	0.04900	-0.000000	0.12993	1.661000	0.50771	0.543000	0.68304	TCT		0.468	NLRP13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396560.1	NM_176810		8	111	0	0	0	1	0	8	111					A	56421986	G	A	56421986	3	1	379	1	0	0	0	0	1	0	0	0	10475	942	33	3	928	3	NLRP13	19	56421986	Missense_Mutation	SNP	G	TCGA-V1-A8WW-01A-11D-A377-08	43652859	56421986	2706997	37	18696											
NLRP13	126204	broad.mit.edu	37	chr19	56422072	56422072	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagcaaatgctgttccatgcGtgcatcctggaatcaaactt	11	11	9	10	1	1	0	1	0	0	0	3	2	3	1	2	1	5	4	2	1	3	2	rs185367421		TCGA-V1-A8WW-01A-11D-A377-08	TCGA-V1-A8WW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	637ce92c-479a-4333-a272-a3bc97468267	362152fc-c864-446f-b73d-3bd9926755b8	g.chr19:56422072G>A	ENST00000342929.3	-	6	2138	c.2139C>T	c.(2137-2139)caC>caT	p.H713H	NLRP13_ENST00000588751.1_Silent_p.H713H	NM_176810.2	NP_789780.2	Q86W25	NAL13_HUMAN	NLR family, pyrin domain containing 13	713							ATP binding (GO:0005524)			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		TGTTCCATGCGTGCATCCTGG	0.463																																						ENST00000588751.1																			0				NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109						c.(2137-2139)caC>caT		NLR family, pyrin domain containing 13							170	148	155					19																	56422072		2203	4300	6503	SO:0001819	synonymous_variant	126204						ATP binding	g.chr19:56422072G>A	AY154468	CCDS33119.1	19q13.43	2008-02-05	2006-12-08	2006-12-08	ENSG00000173572	ENSG00000173572		"Nucleotide-binding domain and leucine rich repeat containing"	22937	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 13"	609660	"NACHT, leucine rich repeat and PYD containing 13"	NALP13		12563287	Standard	NM_176810		Approved	NOD14, PAN13, CLR19.7	uc010ygg.2	Q86W25	OTTHUMG00000167839	ENST00000342929.3:c.2139C>T	19.37:g.56422072G>A						NLRP13_ENST00000342929.3_Silent_p.H713H	p.H713H			Q86W25	NAL13_HUMAN		GBM - Glioblastoma multiforme(193;0.0642)	6	2163	-		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)	713					Q7RTR5	Silent	SNP	ENST00000342929.3	37	c.2139C>T	CCDS33119.1																																																																																				0.463	NLRP13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396560.1	NM_176810		29	78	0	0	0	1	0	29	78					A	56422072	G	A	56422072	2	1	379	1	0	0	0	0	0	0	0	1	10475	1136	40	1		1	NLRP13	19	56422072	Silent	SNP	G	TCGA-V1-A8WW-01A-11D-A377-08	86	56422072	2706911	38	18697											
SLC23A2	9962	broad.mit.edu	37	chr20	4880337	4880337	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagggcactgcgatcgtgcCgctgaagcatgtcaggtagt	9	8	15	9	3	1	1	1	1	0	0	2	3	1	1	1	2	3	4	1	2	3	1			TCGA-V1-A8WW-01A-11D-A377-08	TCGA-V1-A8WW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	637ce92c-479a-4333-a272-a3bc97468267	362152fc-c864-446f-b73d-3bd9926755b8	g.chr20:4880337C>T	ENST00000379333.1	-	6	738	c.346G>A	c.(346-348)Ggc>Agc	p.G116S	SLC23A2_ENST00000424750.2_Missense_Mutation_p.G116S|SLC23A2_ENST00000338244.1_Missense_Mutation_p.G116S|SLC23A2_ENST00000468355.1_5'UTR	NM_203327.1	NP_976072.1	Q9UGH3	S23A2_HUMAN	solute carrier family 23 (ascorbic acid transporter), member 2	116					L-ascorbic acid metabolic process (GO:0019852)|L-ascorbic acid transport (GO:0015882)|molecular hydrogen transport (GO:0015993)|nucleobase transport (GO:0015851)|nucleobase-containing compound metabolic process (GO:0006139)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)|transepithelial L-ascorbic acid transport (GO:0070904)|vitamin metabolic process (GO:0006766)|vitamin transmembrane transport (GO:0035461)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	L-ascorbate:sodium symporter activity (GO:0008520)|L-ascorbic acid transporter activity (GO:0015229)|nucleobase transmembrane transporter activity (GO:0015205)|sodium-dependent L-ascorbate transmembrane transporter activity (GO:0070890)|sodium-dependent multivitamin transmembrane transporter activity (GO:0008523)			endometrium(1)|kidney(3)|large_intestine(9)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						GCGATCGTGCCGCTGAAGCAT	0.522																																						ENST00000379333.1																			0				endometrium(1)|kidney(3)|large_intestine(9)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						c.(346-348)Ggc>Agc		solute carrier family 23 (ascorbic acid transporter), member 2							133	113	120					20																	4880337		2203	4300	6503	SO:0001583	missense	9962				L-ascorbic acid metabolic process|molecular hydrogen transport|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|transepithelial L-ascorbic acid transport	apical plasma membrane|integral to plasma membrane|membrane fraction	nucleobase transmembrane transporter activity|sodium-dependent L-ascorbate transmembrane transporter activity|sodium-dependent multivitamin transmembrane transporter activity	g.chr20:4880337C>T	AF058319	CCDS13085.1	20p13	2013-07-18	2013-07-18	2003-03-21	ENSG00000089057	ENSG00000089057		"Solute carriers"	10973	protein-coding gene	gene with protein product		603791	"solute carrier family 23 (nucleobase transporters), member 1"	SLC23A1		9804989, 10331392	Standard	NM_005116		Approved	SVCT2, KIAA0238, YSPL2	uc002wlh.1	Q9UGH3	OTTHUMG00000031793	ENST00000379333.1:c.346G>A	20.37:g.4880337C>T	ENSP00000368637:p.Gly116Ser					SLC23A2_ENST00000338244.1_Missense_Mutation_p.G116S|SLC23A2_ENST00000424750.2_Missense_Mutation_p.G116S|SLC23A2_ENST00000468355.1_5'UTR	p.G116S	NM_203327.1	NP_976072.1	Q9UGH3	S23A2_HUMAN			6	738	-			116					B4DJZ1|Q8WWR4|Q92512|Q96D54|Q9UNU1|Q9UP85	Missense_Mutation	SNP	ENST00000379333.1	37	c.346G>A	CCDS13085.1	.	.	.	.	.	.	.	.	.	.	C	24.8	4.571848	0.86542	.	.	ENSG00000089057	ENST00000379333;ENST00000338244;ENST00000424750	T;T;T	0.15139	2.45;2.45;2.45	5.25	5.25	0.73442	.	0.000000	0.85682	D	0.000000	T	0.35189	0.0923	L	0.46670	1.46	0.43896	D	0.996527	P;D;D	0.89917	0.695;1.0;1.0	P;D;D	0.97110	0.69;1.0;1.0	T	0.01643	-1.1305	10	0.26408	T	0.33	-16.3418	17.4072	0.87477	0.0:1.0:0.0:0.0	.	116;116;116	B4DJZ1;A0MSJ5;Q9UGH3	.;.;S23A2_HUMAN	S	116	ENSP00000368637:G116S;ENSP00000344322:G116S;ENSP00000406601:G116S	ENSP00000344322:G116S	G	-	1	0	SLC23A2	4828337	1.000000	0.71417	0.986000	0.45419	0.608000	0.37181	7.805000	0.86005	2.417000	0.82017	0.563000	0.77884	GGC		0.522	SLC23A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077832.1			35	39	0	0	0	1	0	35	39					T	4880337	C	T	4880337	3	4	379	1	0	0	0	0	1	0	0	0	14463	652	23	2	1654	2	SLC23A2	20	4880337	Missense_Mutation	SNP	C	TCGA-V1-A8WW-01A-11D-A377-08		4880337	58145183	39	18698											
STAU1	6780	broad.mit.edu	37	chr20	47734393	47734393	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	catggggtacgtggcctgaaGagatgttattctttaaaatg	11	13	12	5	1	1	2	0	1	1	1	1	3	1	2	1	3	1	2	1	3	5	5			TCGA-V1-A8WW-01A-11D-A377-08	TCGA-V1-A8WW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	637ce92c-479a-4333-a272-a3bc97468267	362152fc-c864-446f-b73d-3bd9926755b8	g.chr20:47734393G>C	ENST00000371856.2	-	11	1840	c.1430C>G	c.(1429-1431)tCt>tGt	p.S477C	STAU1_ENST00000347458.5_Missense_Mutation_p.S396C|STAU1_ENST00000340954.7_Missense_Mutation_p.S396C|STAU1_ENST00000360426.4_Missense_Mutation_p.S396C|STAU1_ENST00000371802.1_Missense_Mutation_p.S402C|STAU1_ENST00000371792.1_Missense_Mutation_p.S394C|STAU1_ENST00000371828.3_Missense_Mutation_p.S402C	NM_017453.2	NP_059347.2	O95793	STAU1_HUMAN	staufen double-stranded RNA binding protein 1	477					intracellular mRNA localization (GO:0008298)	cell body (GO:0044297)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytoplasmic stress granule (GO:0010494)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|microtubule associated complex (GO:0005875)|neuronal cell body (GO:0043025)|rough endoplasmic reticulum (GO:0005791)	double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|liver(1)|lung(6)|ovary(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	23			BRCA - Breast invasive adenocarcinoma(12;0.000644)|Colorectal(8;0.198)			GTGGCCTGAAGAGATGTTATT	0.547																																						ENST00000371828.3																			0				breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|liver(1)|lung(6)|ovary(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						c.(1204-1206)tCt>tGt		staufen double-stranded RNA binding protein 1							115	107	110					20																	47734393		2203	4300	6503	SO:0001583	missense	6780					microtubule associated complex|rough endoplasmic reticulum|stress granule	double-stranded RNA binding	g.chr20:47734393G>C		CCDS13414.1, CCDS13415.1, CCDS33481.1	20q13.1	2014-06-13	2013-06-05	2005-11-04	ENSG00000124214	ENSG00000124214			11370	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 150"	601716	"staufen (Drosophila, RNA-binding protein)", "staufen, RNA binding protein (Drosophila)", "staufen, RNA binding protein, homolog 1 (Drosophila)"	STAU		8884277, 15680326	Standard	XM_005260524		Approved	PPP1R150	uc002xud.3	O95793	OTTHUMG00000032691	ENST00000371856.2:c.1430C>G	20.37:g.47734393G>C	ENSP00000360922:p.Ser477Cys					STAU1_ENST00000371802.1_Missense_Mutation_p.S402C|STAU1_ENST00000371856.2_Missense_Mutation_p.S477C|STAU1_ENST00000371792.1_Missense_Mutation_p.S394C|STAU1_ENST00000347458.5_Missense_Mutation_p.S396C|STAU1_ENST00000340954.7_Missense_Mutation_p.S396C|STAU1_ENST00000360426.4_Missense_Mutation_p.S396C	p.S402C	NM_001037328.1|NM_004602.2	NP_001032405.1|NP_004593.2	O95793	STAU1_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.000644)|Colorectal(8;0.198)		11	1692	-			477					A8K9Z4|E1P5Y1|E1P608|Q5JW29|Q6GTM4|Q9H5B4|Q9H5B5|Q9Y3Q2	Missense_Mutation	SNP	ENST00000371856.2	37	c.1205C>G	CCDS13414.1	.	.	.	.	.	.	.	.	.	.	G	19.29	3.799448	0.70567	.	.	ENSG00000124214	ENST00000371828;ENST00000340954;ENST00000371856;ENST00000360426;ENST00000347458;ENST00000371805;ENST00000371802;ENST00000371792	T;T;T;T;T;T;T	0.34072	1.38;1.38;1.38;1.38;1.38;1.38;1.38	5.62	5.62	0.85841	.	0.257134	0.45867	D	0.000330	T	0.44498	0.1296	L	0.54323	1.7	0.50813	D	0.999896	P;P	0.42203	0.773;0.74	P;B	0.44359	0.447;0.353	T	0.35871	-0.9771	10	0.54805	T	0.06	-7.6167	19.6778	0.95943	0.0:0.0:1.0:0.0	.	477;402	O95793;Q5JW29	STAU1_HUMAN;.	C	402;396;477;396;396;396;402;394	ENSP00000360893:S402C;ENSP00000345425:S396C;ENSP00000360922:S477C;ENSP00000353604:S396C;ENSP00000323443:S396C;ENSP00000360867:S402C;ENSP00000360857:S394C	ENSP00000345425:S396C	S	-	2	0	STAU1	47167800	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.054000	0.57434	2.645000	0.89757	0.650000	0.86243	TCT		0.547	STAU1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079633.1	NM_017453		3	67	0	0	0	1	0	3	67					C	47734393	G	C	47734393	3	2	379	1	0	0	0	0	1	0	0	0	15271	942	33	5	319	5	STAU1	20	47734393	Missense_Mutation	SNP	G	TCGA-V1-A8WW-01A-11D-A377-08	42854056	47734393	15291127	40	18699											
FANCB	2187	broad.mit.edu	37	chrX	14863074	14863074	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acacacaacataacgatcttTaggacagttaccactttctc	14	11	4	12	1	2	0	0	0	2	0	3	2	2	1	1	1	3	1	1	1	4	5			TCGA-V1-A8WW-01A-11D-A377-08	TCGA-V1-A8WW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	637ce92c-479a-4333-a272-a3bc97468267	362152fc-c864-446f-b73d-3bd9926755b8	g.chrX:14863074T>C	ENST00000324138.3	-	7	1984	c.1831A>G	c.(1831-1833)Aaa>Gaa	p.K611E	FANCB_ENST00000398334.1_Missense_Mutation_p.K611E	NM_152633.2	NP_689846.1	Q8NB91	FANCB_HUMAN	Fanconi anemia, complementation group B	611					DNA repair (GO:0006281)	Fanconi anaemia nuclear complex (GO:0043240)|nucleoplasm (GO:0005654)				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	24	Hepatocellular(33;0.183)					TAACGATCTTTAGGACAGTTA	0.353								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																													ENST00000398334.1																			0				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	24						c.(1831-1833)Aaa>Gaa	Involved in tolerance or repair of DNA crosslinks	Fanconi anemia, complementation group B							149	150	150					X																	14863074		2203	4299	6502	SO:0001583	missense	2187	Fanconi Anemia	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	DNA repair	nucleoplasm		g.chrX:14863074T>C	AK091383	CCDS14161.1	Xp22.2	2014-09-17			ENSG00000181544	ENSG00000181544		"Fanconi anemia, complementation groups"	3583	protein-coding gene	gene with protein product		300515				9382107, 15502827	Standard	NM_152633		Approved	FAB, FLJ34064, FAAP95	uc004cwh.1	Q8NB91	OTTHUMG00000021168	ENST00000324138.3:c.1831A>G	X.37:g.14863074T>C	ENSP00000326819:p.Lys611Glu					FANCB_ENST00000324138.3_Missense_Mutation_p.K611E	p.K611E	NM_001018113.1	NP_001018123.1	Q8NB91	FANCB_HUMAN			8	2098	-	Hepatocellular(33;0.183)		611					B2RMZ4|Q7Z2U2|Q86XG1	Missense_Mutation	SNP	ENST00000324138.3	37	c.1831A>G	CCDS14161.1	.	.	.	.	.	.	.	.	.	.	T	0	-2.851919	0.00066	.	.	ENSG00000181544	ENST00000324138;ENST00000398334;ENST00000452869	.	.	.	5.5	2.73	0.32206	.	0.736172	0.13513	N	0.382316	T	0.08088	0.0202	N	0.02011	-0.69	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.36335	-0.9752	9	0.02654	T	1	0.1547	1.8489	0.03165	0.1405:0.4718:0.1342:0.2536	.	611	Q8NB91	FANCB_HUMAN	E	611	.	ENSP00000326819:K611E	K	-	1	0	FANCB	14772995	0.001000	0.12720	0.001000	0.08648	0.005000	0.04900	0.120000	0.15647	0.128000	0.18479	-1.318000	0.01297	AAA		0.353	FANCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055835.1	NM_152633		74	12	0	0	0	1	0	74	12					C	14863074	T	C	14863074	3	2	379	1	0	0	0	0	1	0	0	0	5663	1763	61	4	760	4	FANCB	23	14863074	Missense_Mutation	SNP	T	TCGA-V1-A8WW-01A-11D-A377-08		14863074	140407486	41	18700											
GPR3	2827	broad.mit.edu	37	chr1	27720644	27720644	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgagcctggtgctggttggCgtgctggcaatggcctttac	5	12	15	9	1	0	1	0	1	0	0	0	1	0	1	2	5	4	4	2	5	2	3			TCGA-V1-A8X3-01A-11D-A377-08	TCGA-V1-A8X3-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	59cd7fc8-c912-417b-9d55-f0b4918823bb	e25c2cff-eb3c-4e65-8ecd-4e2bf1395062	g.chr1:27720644C>T	ENST00000374024.3	+	2	441	c.342C>T	c.(340-342)ggC>ggT	p.G114G		NM_005281.3	NP_005272.1	P46089	GPR3_HUMAN	G protein-coupled receptor 3	114					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|regulation of meiosis (GO:0040020)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)			endometrium(3)|lung(3)|ovary(1)|skin(1)	8		Breast(348;1.53e-05)|Ovarian(437;0.0606)|all_lung(284;0.157)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0415)|OV - Ovarian serous cystadenocarcinoma(117;2.81e-26)|Colorectal(126;1.24e-08)|KIRC - Kidney renal clear cell carcinoma(1967;3.23e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;4.45e-06)|Lung(427;0.00163)|STAD - Stomach adenocarcinoma(196;0.00303)|LUSC - Lung squamous cell carcinoma(448;0.008)|READ - Rectum adenocarcinoma(331;0.0419)		TGCTGGTTGGCGTGCTGGCAA	0.602																																						ENST00000374024.3																			0				endometrium(3)|lung(3)|ovary(1)|skin(1)	8						c.(340-342)ggC>ggT		G protein-coupled receptor 3							97	89	92					1																	27720644		2203	4300	6503	SO:0001819	synonymous_variant	2827				activation of adenylate cyclase activity by G-protein signaling pathway	integral to plasma membrane		g.chr1:27720644C>T	BC032702	CCDS303.1	1p36.1-p35	2012-08-21			ENSG00000181773	ENSG00000181773		"GPCR / Class A : Orphans"	4484	protein-coding gene	gene with protein product		600241				7851889	Standard	NM_005281		Approved	ACCA	uc001bod.4	P46089	OTTHUMG00000003397	ENST00000374024.3:c.342C>T	1.37:g.27720644C>T							p.G114G	NM_005281.2	NP_005272.1	P46089	GPR3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0415)|OV - Ovarian serous cystadenocarcinoma(117;2.81e-26)|Colorectal(126;1.24e-08)|KIRC - Kidney renal clear cell carcinoma(1967;3.23e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;4.45e-06)|Lung(427;0.00163)|STAD - Stomach adenocarcinoma(196;0.00303)|LUSC - Lung squamous cell carcinoma(448;0.008)|READ - Rectum adenocarcinoma(331;0.0419)	2	441	+		Breast(348;1.53e-05)|Ovarian(437;0.0606)|all_lung(284;0.157)	114					A8K570	Silent	SNP	ENST00000374024.3	37	c.342C>T	CCDS303.1																																																																																				0.602	GPR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009522.1	NM_005281		16	70	0	0	0	1	0	16	70					T	27720644	C	T	27720644	2	4	380	1	0	0	0	0	0	0	0	1	6686	755	27	1		1	GPR3	1	27720644	Silent	SNP	C	TCGA-V1-A8X3-01A-11D-A377-08		27720644	221529977	1	18701											
ASH1L	55870	broad.mit.edu	37	chr1	155449429	155449429	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgctgacccagctgcctgttGagctgtttgctcaagaacag	8	11	11	11	0	1	3	1	2	0	1	1	3	1	3	2	0	6	6	2	0	2	2			TCGA-V1-A8X3-01A-11D-A377-08	TCGA-V1-A8X3-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	59cd7fc8-c912-417b-9d55-f0b4918823bb	e25c2cff-eb3c-4e65-8ecd-4e2bf1395062	g.chr1:155449429G>A	ENST00000368346.3	-	3	3871	c.3232C>T	c.(3232-3234)Caa>Taa	p.Q1078*	ASH1L_ENST00000392403.3_Nonsense_Mutation_p.Q1078*			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	1078					cell-cell signaling (GO:0007267)|DNA packaging (GO:0006323)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|tight junction (GO:0005923)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			GCTGCCTGTTGAGCTGTTTGC	0.433																																						ENST00000368346.3																			0				autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124						c.(3232-3234)Caa>Taa		ash1 (absent, small, or homeotic)-like (Drosophila)							60	59	59					1																	155449429		2203	4300	6503	SO:0001587	stop_gained	55870				cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|Golgi apparatus|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding	g.chr1:155449429G>A	AB037841	CCDS1113.2	1q22	2013-01-28			ENSG00000116539	ENSG00000116539		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	19088	protein-coding gene	gene with protein product		607999				10860993, 16545939	Standard	NM_018489		Approved	huASH1, ASH1, ASH1L1, KMT2H	uc001fkt.3	Q9NR48	OTTHUMG00000014011	ENST00000368346.3:c.3232C>T	1.37:g.155449429G>A	ENSP00000357330:p.Gln1078*					ASH1L_ENST00000392403.3_Nonsense_Mutation_p.Q1078*	p.Q1078*			Q9NR48	ASH1L_HUMAN	Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)		3	3871	-	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		1078					Q59GP1|Q5T714|Q5T715|Q9P2C7	Nonsense_Mutation	SNP	ENST00000368346.3	37	c.3232C>T		.	.	.	.	.	.	.	.	.	.	G	45	11.380312	0.99554	.	.	ENSG00000116539	ENST00000368346;ENST00000392403	.	.	.	5.08	5.08	0.68730	.	0.260096	0.35378	N	0.003247	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.14656	T	0.56	.	11.7164	0.51655	0.0814:0.0:0.9186:0.0	.	.	.	.	X	1078	.	ENSP00000357330:Q1078X	Q	-	1	0	ASH1L	153716053	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	5.924000	0.70054	2.645000	0.89757	0.591000	0.81541	CAA		0.433	ASH1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000039400.1	NM_018489		8	63	0	0	0	1	0	8	63					A	155449429	G	A	155449429	4	1	380	1	0	0	0	0	0	1	0	0	1041	1299	45	3	5766	3	ASH1L	1	155449429	Nonsense_Mutation	SNP	G	TCGA-V1-A8X3-01A-11D-A377-08	127728785	155449429	93801192	2	18702											
C1orf131	128061	broad.mit.edu	37	chr1	231362810	231362810	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caaaccggtgcacttctaaaCgagcctgcggacacaaagca	14	5	9	13	3	1	0	0	0	1	0	1	2	1	1	2	2	6	2	2	2	4	2	rs542541652	byFrequency	TCGA-V1-A8X3-01A-11D-A377-08	TCGA-V1-A8X3-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	59cd7fc8-c912-417b-9d55-f0b4918823bb	e25c2cff-eb3c-4e65-8ecd-4e2bf1395062	g.chr1:231362810C>T	ENST00000366649.2	-	4	540	c.515G>A	c.(514-516)cGt>cAt	p.R172H	C1orf131_ENST00000366651.3_Missense_Mutation_p.R171H|C1orf131_ENST00000318906.2_Missense_Mutation_p.R172H			Q8NDD1	CA131_HUMAN	chromosome 1 open reading frame 131	172							poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1)	8	Breast(184;0.0871)	all_cancers(173;0.2)|Prostate(94;0.183)				CACTTCTAAACGAGCCTGCGG	0.483													C|||	2	0.000399361	0.0015	0	5008	,	,		19287	0		0	False		,,,				2504	0					ENST00000318906.2																			0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1)	8						c.(514-516)cGt>cAt		chromosome 1 open reading frame 131							92	82	86					1																	231362810		2203	4300	6503	SO:0001583	missense	128061							g.chr1:231362810C>T	BC062353	CCDS1591.2, CCDS73049.1	1q42.2	2012-06-27			ENSG00000143633	ENSG00000143633			25332	protein-coding gene	gene with protein product						12975309	Standard	XM_005273051		Approved	DKFZp547B1713	uc001hul.3	Q8NDD1	OTTHUMG00000038023	ENST00000366649.2:c.515G>A	1.37:g.231362810C>T	ENSP00000355609:p.Arg172His					C1orf131_ENST00000366649.2_Missense_Mutation_p.R172H|C1orf131_ENST00000366651.3_Missense_Mutation_p.R171H	p.R172H			Q8NDD1	CA131_HUMAN			4	543	-	Breast(184;0.0871)	all_cancers(173;0.2)|Prostate(94;0.183)	172					Q5TBI0|Q5TBI1|Q6P6B4|Q7Z6H5|Q8N432|Q96NM6	Missense_Mutation	SNP	ENST00000366649.2	37	c.515G>A	CCDS1591.2	.	.	.	.	.	.	.	.	.	.	C	20.2	3.956108	0.73902	.	.	ENSG00000143633	ENST00000366649;ENST00000318906;ENST00000366651;ENST00000366648;ENST00000451322	T;T;T;T	0.63255	-0.03;-0.03;2.57;2.49	5.12	5.12	0.69794	.	0.000000	0.85682	D	0.000000	T	0.80539	0.4642	M	0.83118	2.625	0.58432	D	0.999999	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.998;0.998	T	0.83237	-0.0060	10	0.87932	D	0	-10.1631	15.5804	0.76432	0.0:1.0:0.0:0.0	.	171;172;171;172	B4E0F7;Q8NDD1;Q8NDD1-3;Q8NDD1-2	.;CA131_HUMAN;.;.	H	172;172;171;142;135	ENSP00000355609:R172H;ENSP00000321341:R172H;ENSP00000355611:R171H;ENSP00000401677:R135H	ENSP00000321341:R172H	R	-	2	0	C1orf131	229429433	1.000000	0.71417	0.979000	0.43373	0.223000	0.24884	5.877000	0.69675	2.663000	0.90544	0.585000	0.79938	CGT		0.483	C1orf131-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000092864.1	NM_152379		4	33	0	0	0	1	0	4	33					T	231362810	C	T	231362810	3	4	380	1	0	0	0	0	1	0	0	0	1998	536	19	1	382	1	C1orf131	1	231362810	Missense_Mutation	SNP	C	TCGA-V1-A8X3-01A-11D-A377-08	75913381	231362810	17887811	3	18703											
CNTNAP5	129684	broad.mit.edu	37	chr2	125262091	125262091	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agggtggaatcctgagactcGtgattcagaaaatgacagaa	15	8	12	6	1	1	5	1	3	0	3	3	7	2	6	1	2	0	0	1	2	4	1	rs368773037		TCGA-V1-A8X3-01A-11D-A377-08	TCGA-V1-A8X3-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	59cd7fc8-c912-417b-9d55-f0b4918823bb	e25c2cff-eb3c-4e65-8ecd-4e2bf1395062	g.chr2:125262091G>A	ENST00000431078.1	+	8	1646	c.1282G>A	c.(1282-1284)Gtg>Atg	p.V428M		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	428	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		CCTGAGACTCGTGATTCAGAA	0.507																																						ENST00000431078.1																			0				NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176						c.(1282-1284)Gtg>Atg		contactin associated protein-like 5		G	MET/VAL	0,3928		0,0,1964	66	70	69		1282	-0.8	0	2		69	1,8309		0,1,4154	no	missense	CNTNAP5	NM_130773.2	21	0,1,6118	AA,AG,GG		0.012,0.0,0.0082	benign	428/1307	125262091	1,12237	1964	4155	6119	SO:0001583	missense	129684				cell adhesion|signal transduction	integral to membrane	receptor binding	g.chr2:125262091G>A	AB077881	CCDS46401.1	2q14.1	2008-02-05			ENSG00000155052	ENSG00000155052			18748	protein-coding gene	gene with protein product		610519					Standard	NM_130773		Approved	caspr5, FLJ31966	uc002tno.3	Q8WYK1	OTTHUMG00000153356	ENST00000431078.1:c.1282G>A	2.37:g.125262091G>A	ENSP00000399013:p.Val428Met						p.V428M	NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.248)	8	1646	+			428			Laminin G-like 2.		Q4ZFW2|Q4ZG21|Q53R09|Q53RX1|Q53SG3|Q584P3|Q96MS7	Missense_Mutation	SNP	ENST00000431078.1	37	c.1282G>A	CCDS46401.1	.	.	.	.	.	.	.	.	.	.	G	6.904	0.536338	0.13188	0.0	1.2E-4	ENSG00000155052	ENST00000431078	T	0.79653	-1.29	5.64	-0.832	0.10785	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.808315	0.10287	N	0.692860	T	0.68357	0.2992	L	0.33485	1.01	0.09310	N	1	P	0.37466	0.596	B	0.33620	0.167	T	0.50964	-0.8765	10	0.30854	T	0.27	.	12.1079	0.53823	0.1303:0.5761:0.2936:0.0	.	428	Q8WYK1	CNTP5_HUMAN	M	428	ENSP00000399013:V428M	ENSP00000399013:V428M	V	+	1	0	CNTNAP5	124978561	0.001000	0.12720	0.008000	0.14137	0.516000	0.34256	0.036000	0.13819	-0.510000	0.06523	-0.181000	0.13052	GTG		0.507	CNTNAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330864.3			6	45	0	0	0	1	0	6	45					A	125262091	G	A	125262091	3	1	380	1	0	0	0	0	1	0	0	0	3650	1145	40	1	1312	1	CNTNAP5	2	125262091	Missense_Mutation	SNP	G	TCGA-V1-A8X3-01A-11D-A377-08		125262091	117937282	4	18704											
STK39	27347	broad.mit.edu	37	chr2	169038559	169038559	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tgctacacgttcttgcctggGtttgcatagggctgcctgaa	6	13	12	10	1	1	1	0	1	1	0	1	1	1	1	2	2	5	5	2	2	3	5			TCGA-V1-A8X3-01A-11D-A377-08	TCGA-V1-A8X3-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	59cd7fc8-c912-417b-9d55-f0b4918823bb	e25c2cff-eb3c-4e65-8ecd-4e2bf1395062	g.chr2:169038559G>T	ENST00000355999.4	-	2	955	c.250C>A	c.(250-252)Ccc>Acc	p.P84T		NM_013233.2	NP_037365.2	Q9UEW8	STK39_HUMAN	serine threonine kinase 39	84	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular hypotonic response (GO:0071476)|intracellular signal transduction (GO:0035556)|negative regulation of potassium ion transmembrane transport (GO:1901380)|negative regulation of potassium ion transmembrane transporter activity (GO:1901017)|negative regulation of rubidium ion transmembrane transporter activity (GO:2000687)|negative regulation of rubidium ion transport (GO:2000681)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of potassium ion transport (GO:0043268)|protein phosphorylation (GO:0006468)|regulation of inflammatory response (GO:0050727)|response to stress (GO:0006950)|signal transduction by phosphorylation (GO:0023014)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein serine/threonine kinase activity (GO:0004702)			central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(3)|prostate(2)|skin(2)	13						TCTTGCCTGGGTTTGCATAGG	0.448																																						ENST00000355999.4																			0				central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(3)|prostate(2)|skin(2)	13						c.(250-252)Ccc>Acc		serine threonine kinase 39							205	190	195					2																	169038559		1949	4146	6095	SO:0001583	missense	27347				response to stress	cytoplasm|nucleus	ATP binding|protein binding|receptor signaling protein serine/threonine kinase activity	g.chr2:169038559G>T	AF099989	CCDS42770.1	2q24.3	2010-06-25	2010-06-25		ENSG00000198648	ENSG00000198648			17717	protein-coding gene	gene with protein product	"STE20/SPS1 homolog (yeast)"	607648				10980603	Standard	NM_013233		Approved	DCHT, SPAK	uc002uea.3	Q9UEW8	OTTHUMG00000133745	ENST00000355999.4:c.250C>A	2.37:g.169038559G>T	ENSP00000348278:p.Pro84Thr						p.P84T	NM_013233.2	NP_037365.2	Q9UEW8	STK39_HUMAN			2	955	-			84			Protein kinase.		O14774|Q53S90|Q53SL7|Q53SS1|Q9UER4|X5D9C8	Missense_Mutation	SNP	ENST00000355999.4	37	c.250C>A	CCDS42770.1	.	.	.	.	.	.	.	.	.	.	G	29.6	5.019759	0.93462	.	.	ENSG00000198648	ENST00000355999	T	0.64438	-0.1	6.17	6.17	0.99709	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.69033	0.3066	L	0.31804	0.96	0.80722	D	1	D	0.56521	0.976	P	0.59357	0.856	T	0.69247	-0.5195	10	0.62326	D	0.03	-39.8324	19.6509	0.95805	0.0:0.0:1.0:0.0	.	84	Q9UEW8	STK39_HUMAN	T	84	ENSP00000348278:P84T	ENSP00000348278:P84T	P	-	1	0	STK39	168746805	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	9.322000	0.96357	2.941000	0.99782	0.655000	0.94253	CCC		0.448	STK39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258112.2	NM_013233		10	55	1	0	7.48243e-07	1	7.62914e-07	10	55					T	169038559	G	T	169038559	3	4	380	1	0	0	0	0	1	0	0	0	15304	1261	44	5	1455	5	STK39	2	169038559	Missense_Mutation	SNP	G	TCGA-V1-A8X3-01A-11D-A377-08	43776468	169038559	74160814	5	18705											
PID1	55022	broad.mit.edu	37	chr2	229890709	229890709	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tttccaggagggcattggccGgaaagacatcctctcgggct	8	9	13	11	2	1	1	0	0	1	1	4	3	3	3	3	5	0	2	3	5	1	2	rs200100687		TCGA-V1-A8X3-01A-11D-A377-08	TCGA-V1-A8X3-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	59cd7fc8-c912-417b-9d55-f0b4918823bb	e25c2cff-eb3c-4e65-8ecd-4e2bf1395062	g.chr2:229890709G>A	ENST00000354069.6	-	3	422	c.392C>T	c.(391-393)cCg>cTg	p.P131L	PID1_ENST00000392054.3_Missense_Mutation_p.P129L|PID1_ENST00000392055.3_Missense_Mutation_p.P98L|PID1_ENST00000482518.2_Intron|PID1_ENST00000409462.1_Missense_Mutation_p.P49L			Q7Z2X4	PCLI1_HUMAN	phosphotyrosine interaction domain containing 1	131	PID. {ECO:0000255|PROSITE- ProRule:PRU00148}.				cellular response to cytokine stimulus (GO:0071345)|cellular response to fatty acid (GO:0071398)|cellular response to interleukin-6 (GO:0071354)|cellular response to leptin stimulus (GO:0044320)|cellular response to tumor necrosis factor (GO:0071356)|energy reserve metabolic process (GO:0006112)|mitochondrion morphogenesis (GO:0070584)|negative regulation of ATP biosynthetic process (GO:2001170)|negative regulation of establishment of protein localization to plasma membrane (GO:0090005)|negative regulation of glucose import in response to insulin stimulus (GO:2001274)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of mitochondrial DNA replication (GO:0090298)|negative regulation of protein phosphorylation (GO:0001933)|positive regulation of ATP biosynthetic process (GO:2001171)|positive regulation of fat cell proliferation (GO:0070346)|positive regulation of gene expression (GO:0010628)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of G1/S transition of mitotic cell cycle (GO:2000045)|regulation of mitochondrial fusion (GO:0010635)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of reactive oxygen species metabolic process (GO:2000377)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(4)|endometrium(3)|large_intestine(5)|lung(8)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	26		Renal(207;0.0112)|all_lung(227;0.0191)|Lung NSC(271;0.0851)|all_hematologic(139;0.104)|Acute lymphoblastic leukemia(138;0.171)		Epithelial(121;3.08e-11)|all cancers(144;2.28e-08)|LUSC - Lung squamous cell carcinoma(224;0.0145)|Lung(261;0.0189)		GGCATTGGCCGGAAAGACATC	0.547													G|||	1	0.000199681	0	0	5008	,	,		20200	0		0	False		,,,				2504	0.001					ENST00000392054.3																			0				breast(4)|endometrium(3)|large_intestine(5)|lung(8)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	26						c.(385-387)cCg>cTg		phosphotyrosine interaction domain containing 1							89	86	87					2																	229890709		2203	4300	6503	SO:0001583	missense	55022					cytoplasm		g.chr2:229890709G>A	AK096636	CCDS2471.1, CCDS42830.1	2q36.3	2007-02-02			ENSG00000153823	ENSG00000153823			26084	protein-coding gene	gene with protein product		612930				17124247, 16815647, 15221005	Standard	NM_001100818		Approved	NYGGF4, FLJ20701	uc002vps.4	Q7Z2X4	OTTHUMG00000133191	ENST00000354069.6:c.392C>T	2.37:g.229890709G>A	ENSP00000283937:p.Pro131Leu					PID1_ENST00000409462.1_Missense_Mutation_p.P49L|PID1_ENST00000482518.2_Intron|PID1_ENST00000354069.6_Missense_Mutation_p.P131L|PID1_ENST00000392055.3_Missense_Mutation_p.P98L	p.P129L	NM_017933.4	NP_060403.3	Q7Z2X4	PCLI1_HUMAN		Epithelial(121;3.08e-11)|all cancers(144;2.28e-08)|LUSC - Lung squamous cell carcinoma(224;0.0145)|Lung(261;0.0189)	4	725	-		Renal(207;0.0112)|all_lung(227;0.0191)|Lung NSC(271;0.0851)|all_hematologic(139;0.104)|Acute lymphoblastic leukemia(138;0.171)	131			PID.		B3KU82|Q68CJ2|Q6ZUS3|Q8IXL0|Q9NWP6	Missense_Mutation	SNP	ENST00000354069.6	37	c.386C>T		.	.	.	.	.	.	.	.	.	.	G	18.51	3.639776	0.67244	.	.	ENSG00000153823	ENST00000392054;ENST00000409462;ENST00000392055;ENST00000542363;ENST00000354069	.	.	.	5.3	4.36	0.52297	Pleckstrin homology-type (1);	0.103213	0.64402	D	0.000002	T	0.42944	0.1225	L	0.38175	1.15	0.58432	D	0.999999	P;P;D;D	0.59357	0.873;0.706;0.981;0.985	B;B;B;B	0.42030	0.013;0.013;0.373;0.307	T	0.35301	-0.9794	8	.	.	.	-17.2813	14.8344	0.70172	0.0:0.1443:0.8557:0.0	.	49;98;129;131	Q7Z2X4-3;Q7Z2X4-4;Q7Z2X4-2;Q7Z2X4	.;.;.;PCLI1_HUMAN	L	129;49;98;131;131	.	.	P	-	2	0	PID1	229598953	1.000000	0.71417	0.978000	0.43139	0.926000	0.56050	7.060000	0.76692	2.645000	0.89757	0.655000	0.94253	CCG		0.547	PID1-005	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000331810.2	NM_017933		3	43	0	0	0	1	0	3	43					A	229890709	G	A	229890709	3	1	380	1	0	0	0	0	1	0	0	0	11882	1116	39	2	364	2	PID1	2	229890709	Missense_Mutation	SNP	G	TCGA-V1-A8X3-01A-11D-A377-08	60852150	229890709	13308664	6	18706											
TMEM40	55287	broad.mit.edu	37	chr3	12785418	12785418	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ccgggtgagccgttcccgtgGgggtatccagcccccaggct	4	7	15	15	3	0	1	0	1	0	0	2	1	2	1	6	4	2	3	6	4	1	2			TCGA-V1-A8X3-01A-11D-A377-08	TCGA-V1-A8X3-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	59cd7fc8-c912-417b-9d55-f0b4918823bb	e25c2cff-eb3c-4e65-8ecd-4e2bf1395062	g.chr3:12785418G>A	ENST00000314124.7	-	4	638	c.282C>T	c.(280-282)ccC>ccT	p.P94P	TMEM40_ENST00000435575.1_Intron|TMEM40_ENST00000476331.1_5'Flank|TMEM40_ENST00000264728.8_Silent_p.P94P|TMEM40_ENST00000431022.2_Silent_p.P110P|TMEM40_ENST00000435218.2_Intron	NM_001284406.1|NM_018306.2	NP_001271335.1|NP_060776.2	Q8WWA1	TMM40_HUMAN	transmembrane protein 40	94						integral component of membrane (GO:0016021)				breast(1)|large_intestine(3)|lung(5)|urinary_tract(1)	10						CGTTCCCGTGGGGGTATCCAG	0.542																																						ENST00000314124.7																			0				breast(1)|large_intestine(3)|lung(5)|urinary_tract(1)	10						c.(280-282)ccC>ccT		transmembrane protein 40							83	81	82					3																	12785418		2203	4300	6503	SO:0001819	synonymous_variant	55287					integral to membrane		g.chr3:12785418G>A	BC020658	CCDS2613.1, CCDS68347.1, CCDS68348.1	3p25.2	2005-01-10			ENSG00000088726	ENSG00000088726			25620	protein-coding gene	gene with protein product						12477932	Standard	NM_018306		Approved	FLJ11036	uc003bxg.1	Q8WWA1	OTTHUMG00000129801	ENST00000314124.7:c.282C>T	3.37:g.12785418G>A						TMEM40_ENST00000435218.2_Intron|TMEM40_ENST00000264728.8_Silent_p.P94P|TMEM40_ENST00000431022.2_Silent_p.P110P|TMEM40_ENST00000435575.1_Intron	p.P94P	NM_018306.2	NP_060776.2	Q8WWA1	TMM40_HUMAN			4	638	-			94					C9JID5|Q8NAL4|Q9NUZ4	Silent	SNP	ENST00000314124.7	37	c.282C>T	CCDS2613.1																																																																																				0.542	TMEM40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252029.2	NM_018306		3	56	0	0	0	1	0	3	56					A	12785418	G	A	12785418	2	1	380	1	0	0	0	0	0	0	0	1	16160	1219	43	3		3	TMEM40	3	12785418	Silent	SNP	G	TCGA-V1-A8X3-01A-11D-A377-08		12785418	185237012	7	18707											
HTT	3064	broad.mit.edu	37	chr4	3205828	3205828	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccaaacttggaatgtgcaatAgagaaatagtacgaagaggg	17	7	12	5	1	0	2	0	0	0	2	0	5	0	3	1	2	3	2	1	2	8	4			TCGA-V1-A8X3-01A-11D-A377-08	TCGA-V1-A8X3-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	59cd7fc8-c912-417b-9d55-f0b4918823bb	e25c2cff-eb3c-4e65-8ecd-4e2bf1395062	g.chr4:3205828A>G	ENST00000355072.5	+	42	5816	c.5671A>G	c.(5671-5673)Aga>Gga	p.R1891G		NM_002111.6	NP_002102	P42858	HD_HUMAN	huntingtin	1891					anterior/posterior pattern specification (GO:0009952)|axon cargo transport (GO:0008088)|cell aging (GO:0007569)|citrulline metabolic process (GO:0000052)|determination of adult lifespan (GO:0008340)|dopamine receptor signaling pathway (GO:0007212)|endoplasmic reticulum organization (GO:0007029)|endosomal transport (GO:0016197)|ER to Golgi vesicle-mediated transport (GO:0006888)|establishment of mitotic spindle orientation (GO:0000132)|Golgi organization (GO:0007030)|grooming behavior (GO:0007625)|hormone metabolic process (GO:0042445)|insulin secretion (GO:0030073)|iron ion homeostasis (GO:0055072)|L-glutamate import (GO:0051938)|lactate biosynthetic process from pyruvate (GO:0019244)|locomotory behavior (GO:0007626)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of neuron apoptotic process (GO:0043524)|neural plate formation (GO:0021990)|neuron apoptotic process (GO:0051402)|neuron development (GO:0048666)|olfactory lobe development (GO:0021988)|organ development (GO:0048513)|paraxial mesoderm formation (GO:0048341)|positive regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031587)|protein import into nucleus (GO:0006606)|quinolinate biosynthetic process (GO:0019805)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of protein phosphatase type 2A activity (GO:0034047)|regulation of synaptic plasticity (GO:0048167)|response to calcium ion (GO:0051592)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|social behavior (GO:0035176)|spermatogenesis (GO:0007283)|striatum development (GO:0021756)|urea cycle (GO:0000050)|vesicle transport along microtubule (GO:0047496)|visual learning (GO:0008542)	autophagic vacuole (GO:0005776)|axon (GO:0030424)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|inclusion body (GO:0016234)|late endosome (GO:0005770)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein complex (GO:0043234)	beta-tubulin binding (GO:0048487)|diazepam binding (GO:0050809)|dynactin binding (GO:0034452)|dynein intermediate chain binding (GO:0045505)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|p53 binding (GO:0002039)|transcription factor binding (GO:0008134)			breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		AATGTGCAATAGAGAAATAGT	0.468																																						ENST00000355072.5																			0				breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87						c.(5671-5673)Aga>Gga		huntingtin							124	124	124					4																	3205828		1887	4109	5996	SO:0001583	missense	3064				establishment of mitotic spindle orientation|Golgi organization|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule	autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|Golgi apparatus|late endosome|membrane fraction|nucleus|protein complex	beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding	g.chr4:3205828A>G	L12392	CCDS43206.1	4p16.3	2014-09-17	2007-12-04	2007-12-04	ENSG00000197386	ENSG00000197386		"Endogenous ligands"	4851	protein-coding gene	gene with protein product		613004	"huntingtin (Huntington disease)"	HD		8458085	Standard	NM_002111		Approved	IT15	uc021xkv.1	P42858	OTTHUMG00000159916	ENST00000355072.5:c.5671A>G	4.37:g.3205828A>G	ENSP00000347184:p.Arg1891Gly						p.R1891G	NM_002111.6	NP_002102.4	P42858	HD_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)	42	5816	+		all_epithelial(65;0.18)	1891					Q9UQB7	Missense_Mutation	SNP	ENST00000355072.5	37	c.5671A>G	CCDS43206.1	.	.	.	.	.	.	.	.	.	.	A	18.30	3.593239	0.66219	.	.	ENSG00000197386	ENST00000355072	T	0.06068	3.35	5.45	1.44	0.22558	.	0.000000	0.85682	D	0.000000	T	0.21022	0.0506	M	0.75447	2.3	0.52099	D	0.999943	D	0.64830	0.994	D	0.74348	0.983	T	0.01375	-1.1371	10	0.28530	T	0.3	.	14.1891	0.65625	0.4306:0.5694:0.0:0.0	.	1891	P42858	HD_HUMAN	G	1891	ENSP00000347184:R1891G	ENSP00000347184:R1891G	R	+	1	2	HTT	3175626	0.714000	0.27936	0.875000	0.34327	0.993000	0.82548	1.095000	0.30964	0.357000	0.24183	0.482000	0.46254	AGA		0.468	HTT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358234.2	NM_002111		30	47	0	0	0	1	0	30	47					G	3205828	A	G	3205828	3	3	380	1	0	0	0	0	1	0	0	0	7457	412	15	4	5837	4	HTT	4	3205828	Missense_Mutation	SNP	A	TCGA-V1-A8X3-01A-11D-A377-08		3205828	187948448	8	18708											
FBXO38	81545	broad.mit.edu	37	chr5	147781593	147781593	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	attaaagaagatgccagatgTtgaacagctatatggccttc	14	11	9	7	0	0	4	0	1	0	3	1	4	0	4	2	1	3	2	2	1	6	5			TCGA-V1-A8X3-01A-11D-A377-08	TCGA-V1-A8X3-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	59cd7fc8-c912-417b-9d55-f0b4918823bb	e25c2cff-eb3c-4e65-8ecd-4e2bf1395062	g.chr5:147781593T>C	ENST00000340253.5	+	4	479	c.311T>C	c.(310-312)gTt>gCt	p.V104A	FBXO38_ENST00000296701.6_Missense_Mutation_p.V104A|FBXO38_ENST00000513826.1_Missense_Mutation_p.V104A|FBXO38_ENST00000394370.3_Missense_Mutation_p.V104A|FBXO38_ENST00000509699.2_3'UTR			Q6PIJ6	FBX38_HUMAN	F-box protein 38	104	Interaction with KLF7. {ECO:0000250}.				cell death (GO:0008219)	cytoplasm (GO:0005737)|nucleus (GO:0005634)			ATG4C/FBXO38(2)	NS(1)|breast(2)|endometrium(7)|kidney(5)|large_intestine(9)|lung(15)|ovary(5)|prostate(2)|skin(2)|stomach(2)|urinary_tract(1)	51			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATGCCAGATGTTGAACAGCTA	0.438																																						ENST00000340253.5																		ATG4C/FBXO38(2)	0				NS(1)|breast(2)|endometrium(7)|kidney(5)|large_intestine(9)|lung(15)|ovary(5)|prostate(2)|skin(2)|stomach(2)|urinary_tract(1)	51						c.(310-312)gTt>gCt		F-box protein 38							124	122	123					5																	147781593		2203	4299	6502	SO:0001583	missense	81545					cytoplasm|nucleus		g.chr5:147781593T>C	BC005873	CCDS43384.1, CCDS64285.1	5q33.1	2008-02-05			ENSG00000145868	ENSG00000145868		"F-boxes /  "other""	28844	protein-coding gene	gene with protein product		608533				12477932	Standard	NM_030793		Approved	MOKA, SP329, FLJ13962, Fbx38	uc003lpg.2	Q6PIJ6	OTTHUMG00000129929	ENST00000340253.5:c.311T>C	5.37:g.147781593T>C	ENSP00000342023:p.Val104Ala					FBXO38_ENST00000509699.2_3'UTR|FBXO38_ENST00000394370.3_Missense_Mutation_p.V104A|FBXO38_ENST00000513826.1_Missense_Mutation_p.V104A|FBXO38_ENST00000296701.6_Missense_Mutation_p.V104A	p.V104A			Q6PIJ6	FBX38_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		4	479	+			104			Interaction with KLF7 (By similarity).		Q6PK72|Q7Z2U0|Q86VN3|Q9BXY6|Q9H837|Q9HC40	Missense_Mutation	SNP	ENST00000340253.5	37	c.311T>C		.	.	.	.	.	.	.	.	.	.	T	18.96	3.732914	0.69189	.	.	ENSG00000145868	ENST00000340253;ENST00000296701;ENST00000394370;ENST00000513826	T;T;T;T	0.37235	1.21;1.22;1.21;1.22	5.77	5.77	0.91146	F-box domain, Skp2-like (1);	0.125034	0.53938	D	0.000043	T	0.24661	0.0598	N	0.08118	0	0.40420	D	0.979839	B;B;B	0.33777	0.425;0.152;0.065	B;B;B	0.36335	0.222;0.085;0.059	T	0.22800	-1.0206	10	0.72032	D	0.01	-16.5857	15.2058	0.73177	0.0:0.0:0.0:1.0	.	104;104;104	Q6PIJ6-3;Q6PIJ6-2;Q6PIJ6	.;.;FBX38_HUMAN	A	104	ENSP00000342023:V104A;ENSP00000296701:V104A;ENSP00000377895:V104A;ENSP00000426410:V104A	ENSP00000296701:V104A	V	+	2	0	FBXO38	147761786	1.000000	0.71417	0.842000	0.33263	0.992000	0.81027	7.698000	0.84413	2.326000	0.78906	0.533000	0.62120	GTT		0.438	FBXO38-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000252185.2	NM_030793		20	79	0	0	0	1	0	20	79					C	147781593	T	C	147781593	3	2	380	1	0	0	0	0	1	0	0	0	5746	1725	60	4	321	4	FBXO38	5	147781593	Missense_Mutation	SNP	T	TCGA-V1-A8X3-01A-11D-A377-08		147781593	33133667	9	18709											
NEDD9	4739	broad.mit.edu	37	chr6	11213711	11213711	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cacttgatagagcttctgttGgccaaaggtctgctgcatca	9	12	10	10	0	3	2	1	1	2	1	3	2	3	2	1	2	3	4	1	2	2	4			TCGA-V1-A8X3-01A-11D-A377-08	TCGA-V1-A8X3-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	59cd7fc8-c912-417b-9d55-f0b4918823bb	e25c2cff-eb3c-4e65-8ecd-4e2bf1395062	g.chr6:11213711G>A	ENST00000379446.5	-	2	428	c.262C>T	c.(262-264)Caa>Taa	p.Q88*	NEDD9_ENST00000379433.5_Nonsense_Mutation_p.Q88*|NEDD9_ENST00000504387.1_Nonsense_Mutation_p.Q88*|RP3-510L9.1_ENST00000500636.2_RNA	NM_001271033.1|NM_006403.3	NP_001257962.1|NP_006394.1	Q14511	CASL_HUMAN	neural precursor cell expressed, developmentally down-regulated 9	88					actin filament bundle assembly (GO:0051017)|cell adhesion (GO:0007155)|cytoskeleton organization (GO:0007010)|integrin-mediated signaling pathway (GO:0007229)|mitotic nuclear division (GO:0007067)|regulation of growth (GO:0040008)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|spindle (GO:0005819)|spindle pole (GO:0000922)				endometrium(3)|kidney(2)|large_intestine(8)|liver(1)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	Breast(50;0.0768)|Ovarian(93;0.152)	all_hematologic(90;0.135)	Epithelial(50;0.0647)|all cancers(50;0.179)			AGCTTCTGTTGGCCAAAGGTC	0.557																																						ENST00000379446.5																			0				endometrium(3)|kidney(2)|large_intestine(8)|liver(1)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						c.(262-264)Caa>Taa		neural precursor cell expressed, developmentally down-regulated 9							156	150	152					6																	11213711		2203	4300	6503	SO:0001587	stop_gained	4739				actin filament bundle assembly|cell adhesion|cell division|integrin-mediated signaling pathway|mitosis|regulation of growth	cell cortex|focal adhesion|Golgi apparatus|lamellipodium|nucleus	protein binding	g.chr6:11213711G>A	L43821	CCDS4520.1, CCDS34340.1, CCDS47373.1, CCDS75400.1	6p25-p24	2011-04-13			ENSG00000111859	ENSG00000111859		"Cas scaffolding proteins"	7733	protein-coding gene	gene with protein product	"Cas scaffolding protein family member 2", "Cas-like"	602265					Standard	NM_182966		Approved	HEF1, CAS-L, CASS2	uc003mzv.2	Q14511	OTTHUMG00000014255	ENST00000379446.5:c.262C>T	6.37:g.11213711G>A	ENSP00000368759:p.Gln88*					RP3-510L9.1_ENST00000500636.2_RNA|NEDD9_ENST00000379433.5_Nonsense_Mutation_p.Q88*|NEDD9_ENST00000504387.1_Nonsense_Mutation_p.Q88*	p.Q88*	NM_001271033.1|NM_006403.3	NP_001257962.1|NP_006394.1	Q14511	CASL_HUMAN	Epithelial(50;0.0647)|all cancers(50;0.179)		2	428	-	Breast(50;0.0768)|Ovarian(93;0.152)	all_hematologic(90;0.135)	88					A8K9G7|A8MSJ9|G5E9Y9|Q5T9R4|Q5XKI0	Nonsense_Mutation	SNP	ENST00000379446.5	37	c.262C>T	CCDS4520.1	.	.	.	.	.	.	.	.	.	.	G	39	7.550673	0.98352	.	.	ENSG00000111859	ENST00000379446;ENST00000504387;ENST00000379433	.	.	.	6.08	6.08	0.98989	.	0.240007	0.42053	D	0.000779	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06236	T	0.91	-7.4685	20.6634	0.99662	0.0:0.0:1.0:0.0	.	.	.	.	X	88	.	ENSP00000368745:Q88X	Q	-	1	0	NEDD9	11321697	1.000000	0.71417	0.978000	0.43139	0.976000	0.68499	5.111000	0.64628	2.894000	0.99253	0.655000	0.94253	CAA		0.557	NEDD9-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000039853.2	NM_006403		3	71	0	0	0	1	0	3	71					A	11213711	G	A	11213711	4	1	380	1	0	0	0	0	0	1	0	0	10313	1357	47	3	2336	3	NEDD9	6	11213711	Nonsense_Mutation	SNP	G	TCGA-V1-A8X3-01A-11D-A377-08		11213711	159901356	10	18710											
CITED2	10370	broad.mit.edu	37	chr6	139694303	139694303	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctgggctgctgtttgcacAcgaagtccgtcataaaatca	10	11	10	10	2	2	0	2	0	0	0	3	1	3	0	1	1	3	5	1	1	3	2			TCGA-V1-A8X3-01A-11D-A377-08	TCGA-V1-A8X3-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	59cd7fc8-c912-417b-9d55-f0b4918823bb	e25c2cff-eb3c-4e65-8ecd-4e2bf1395062	g.chr6:139694303A>T	ENST00000367651.2	-	2	994	c.779T>A	c.(778-780)gTg>gAg	p.V260E	CITED2_ENST00000536159.1_Missense_Mutation_p.V260E|CITED2_ENST00000537332.1_Missense_Mutation_p.V260E	NM_006079.4	NP_006070.2	Q99967	CITE2_HUMAN	Cbp/p300-interacting transactivator, with Glu/Asp-rich carboxy-terminal domain, 2	260					adrenal cortex formation (GO:0035802)|bone morphogenesis (GO:0060349)|cardiac neural crest cell development involved in heart development (GO:0061308)|cell aging (GO:0007569)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|cranial nerve morphogenesis (GO:0021602)|decidualization (GO:0046697)|determination of left/right symmetry (GO:0007368)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic heart tube left/right pattern formation (GO:0060971)|embryonic placenta development (GO:0001892)|embryonic process involved in female pregnancy (GO:0060136)|endocardial cushion development (GO:0003197)|erythrocyte development (GO:0048821)|granulocyte differentiation (GO:0030851)|heart development (GO:0007507)|heart looping (GO:0001947)|hematopoietic progenitor cell differentiation (GO:0002244)|left/right axis specification (GO:0070986)|lens morphogenesis in camera-type eye (GO:0002089)|liver development (GO:0001889)|male gonad development (GO:0008584)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell migration (GO:0030336)|negative regulation of gene expression (GO:0010629)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061428)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|nodal signaling pathway involved in determination of lateral mesoderm left/right asymmetry (GO:1900164)|outflow tract morphogenesis (GO:0003151)|peripheral nervous system development (GO:0007422)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of gene expression (GO:0010628)|positive regulation of male gonad development (GO:2000020)|positive regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035360)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|pulmonary artery morphogenesis (GO:0061156)|regulation of organ formation (GO:0003156)|regulation of RNA biosynthetic process (GO:2001141)|response to estrogen (GO:0043627)|response to fluid shear stress (GO:0034405)|response to hypoxia (GO:0001666)|response to mechanical stimulus (GO:0009612)|sex determination (GO:0007530)|skeletal muscle cell differentiation (GO:0035914)|spleen development (GO:0048536)|thymus development (GO:0048538)|transforming growth factor beta receptor signaling pathway (GO:0007179)|trophectodermal cell differentiation (GO:0001829)|vasculogenesis (GO:0001570)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|histone acetyltransferase binding (GO:0035035)|LBD domain binding (GO:0050693)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			large_intestine(1)|lung(4)	5	Breast(32;0.226)			GBM - Glioblastoma multiforme(68;0.000171)|OV - Ovarian serous cystadenocarcinoma(155;0.00134)		CTGTTTGCACACGAAGTCCGT	0.488																																					NSCLC(98;1219 1550 33720 43229 49330)	ENST00000367651.2																			0				large_intestine(1)|lung(4)	5						c.(778-780)gTg>gAg		Cbp/p300-interacting transactivator, with Glu/Asp-rich carboxy-terminal domain, 2							73	78	76					6																	139694303		2203	4300	6503	SO:0001583	missense	10370				adrenal cortex formation|anti-apoptosis|cell proliferation|determination of left/right symmetry|heart development|liver development|negative regulation of cell migration|negative regulation of transcription from RNA polymerase II promoter|positive regulation of cell cycle|positive regulation of cell-cell adhesion|positive regulation of male gonad development|positive regulation of peroxisome proliferator activated receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of organ formation|response to estrogen stimulus|response to fluid shear stress|response to hypoxia|sex determination	cytoplasm|nuclear chromatin|nucleus	chromatin binding|LBD domain binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity	g.chr6:139694303A>T	U65093	CCDS5195.1, CCDS75530.1	6q23.3	2008-08-29			ENSG00000164442	ENSG00000164442			1987	protein-coding gene	gene with protein product		602937				8901575, 10552932	Standard	NM_006079		Approved	MRG1	uc021zfz.2	Q99967	OTTHUMG00000015691	ENST00000367651.2:c.779T>A	6.37:g.139694303A>T	ENSP00000356623:p.Val260Glu					CITED2_ENST00000537332.1_Missense_Mutation_p.V260E|CITED2_ENST00000536159.1_Missense_Mutation_p.V260E	p.V260E	NM_006079.4	NP_006070.2	Q99967	CITE2_HUMAN		GBM - Glioblastoma multiforme(68;0.000171)|OV - Ovarian serous cystadenocarcinoma(155;0.00134)	2	994	-	Breast(32;0.226)		260					O95426|Q5VTF4	Missense_Mutation	SNP	ENST00000367651.2	37	c.779T>A	CCDS5195.1	.	.	.	.	.	.	.	.	.	.	A	19.13	3.768475	0.69878	.	.	ENSG00000164442	ENST00000367651;ENST00000536159;ENST00000537332;ENST00000392312	T;T;T	0.68624	-0.34;-0.34;-0.34	5.67	5.67	0.87782	.	0.000000	0.64402	D	0.000007	T	0.68686	0.3028	L	0.39245	1.2	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.68565	-0.5375	9	.	.	.	-5.7376	15.9141	0.79496	1.0:0.0:0.0:0.0	.	260	Q99967	CITE2_HUMAN	E	260;260;260;204	ENSP00000356623:V260E;ENSP00000442831:V260E;ENSP00000444198:V260E	.	V	-	2	0	CITED2	139735996	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.875000	0.92372	2.156000	0.67533	0.533000	0.62120	GTG		0.488	CITED2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042463.1			4	96	0	0	0	1	0	4	96					T	139694303	A	T	139694303	3	4	380	1	0	0	0	0	1	0	0	0	3440	159	6	5	37	5	CITED2	6	139694303	Missense_Mutation	SNP	A	TCGA-V1-A8X3-01A-11D-A377-08	128480592	139694303	31420764	11	18711											
NOX3	50508	broad.mit.edu	37	chr6	155750120	155750120	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaagatgtactgccctggcGccattttaaagccacgcttt	9	11	8	13	2	0	1	0	0	0	1	0	1	0	1	4	1	3	2	4	1	4	4			TCGA-V1-A8X3-01A-11D-A377-08	TCGA-V1-A8X3-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	59cd7fc8-c912-417b-9d55-f0b4918823bb	e25c2cff-eb3c-4e65-8ecd-4e2bf1395062	g.chr6:155750120G>A	ENST00000159060.2	-	9	1055	c.953C>T	c.(952-954)gCg>gTg	p.A318V		NM_015718.2	NP_056533.1	Q9HBY0	NOX3_HUMAN	NADPH oxidase 3	318	FAD-binding FR-type. {ECO:0000255|PROSITE-ProRule:PRU00716}.				detection of gravity (GO:0009590)|otolith development (GO:0048840)|superoxide anion generation (GO:0042554)|temperature homeostasis (GO:0001659)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|NADPH oxidase complex (GO:0043020)	superoxide-generating NADPH oxidase activity (GO:0016175)			cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	45		Breast(66;0.0183)		OV - Ovarian serous cystadenocarcinoma(155;2.18e-12)|BRCA - Breast invasive adenocarcinoma(81;0.00815)		CTGCCCTGGCGCCATTTTAAA	0.542																																						ENST00000159060.2																			0				cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	45						c.(952-954)gCg>gTg		NADPH oxidase 3							88	88	88					6																	155750120		2203	4300	6503	SO:0001583	missense	50508						electron carrier activity|flavin adenine dinucleotide binding|iron ion binding	g.chr6:155750120G>A	AF190122	CCDS5250.1	6q25.3	2008-05-15			ENSG00000074771	ENSG00000074771			7890	protein-coding gene	gene with protein product		607105				11376945	Standard	NM_015718		Approved	GP91-3	uc003qqm.3	Q9HBY0	OTTHUMG00000015883	ENST00000159060.2:c.953C>T	6.37:g.155750120G>A	ENSP00000159060:p.Ala318Val						p.A318V	NM_015718.2	NP_056533.1	Q9HBY0	NOX3_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;2.18e-12)|BRCA - Breast invasive adenocarcinoma(81;0.00815)	9	1055	-		Breast(66;0.0183)	318			FAD-binding FR-type.		Q9HBJ9	Missense_Mutation	SNP	ENST00000159060.2	37	c.953C>T	CCDS5250.1	.	.	.	.	.	.	.	.	.	.	G	19.74	3.884598	0.72410	.	.	ENSG00000074771	ENST00000159060	D	0.92495	-3.05	5.78	2.64	0.31445	Riboflavin synthase-like beta-barrel (1);FAD-binding 8 (1);Ferredoxin reductase-type FAD-binding domain (1);	0.093860	0.45867	D	0.000332	T	0.77280	0.4107	N	0.17474	0.49	0.35509	D	0.800476	D	0.57257	0.979	B	0.43680	0.427	T	0.78183	-0.2303	10	0.62326	D	0.03	-18.7747	8.198	0.31409	0.0:0.2038:0.2835:0.5127	.	318	Q9HBY0	NOX3_HUMAN	V	318	ENSP00000159060:A318V	ENSP00000159060:A318V	A	-	2	0	NOX3	155791812	0.999000	0.42202	0.485000	0.27403	0.946000	0.59487	2.980000	0.49321	0.729000	0.32403	0.557000	0.71058	GCG		0.542	NOX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042819.1			9	94	0	0	0	1	0	9	94					A	155750120	G	A	155750120	3	1	380	1	0	0	0	0	1	0	0	0	10557	1087	38	1	773	1	NOX3	6	155750120	Missense_Mutation	SNP	G	TCGA-V1-A8X3-01A-11D-A377-08	16055817	155750120	15364947	12	18712											
MAP3K4	4216	broad.mit.edu	37	chr6	161529848	161529848	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gaaaatattcgaaggcatcaAacaccccaatctggttcggt	14	9	8	10	2	2	0	1	0	1	0	4	2	2	0	2	3	1	2	2	3	6	3			TCGA-V1-A8X3-01A-11D-A377-08	TCGA-V1-A8X3-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	59cd7fc8-c912-417b-9d55-f0b4918823bb	e25c2cff-eb3c-4e65-8ecd-4e2bf1395062	g.chr6:161529848A>G	ENST00000392142.4	+	22	4341	c.4193A>G	c.(4192-4194)aAa>aGa	p.K1398R	MAP3K4_ENST00000366919.2_Missense_Mutation_p.K1348R|MAP3K4_ENST00000366920.2_Missense_Mutation_p.K1394R|MAP3K4_ENST00000348824.7_Missense_Mutation_p.K1344R	NM_005922.2	NP_005913	Q9Y6R4	M3K4_HUMAN	mitogen-activated protein kinase kinase kinase 4	1398	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPKK activity (GO:0000186)|chorionic trophoblast cell differentiation (GO:0060718)|intracellular signal transduction (GO:0035556)|male germ-line sex determination (GO:0019100)|MAPK cascade (GO:0000165)|placenta development (GO:0001890)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of p38MAPK cascade (GO:1900745)|regulation of gene expression (GO:0010468)|response to UV-C (GO:0010225)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|metal ion binding (GO:0046872)			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(28)|ovary(3)|skin(2)|stomach(1)	77		Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771)		OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05)		GAAGGCATCAAACACCCCAAT	0.423																																						ENST00000392142.4																			0				breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(28)|ovary(3)|skin(2)|stomach(1)	77						c.(4192-4194)aAa>aGa		mitogen-activated protein kinase kinase kinase 4							180	174	176					6																	161529848		2203	4300	6503	SO:0001583	missense	4216				activation of MAPKK activity|JNK cascade|positive regulation of JUN kinase activity	perinuclear region of cytoplasm	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding	g.chr6:161529848A>G	AF002715	CCDS34565.1, CCDS34566.1, CCDS75544.1	6q26	2012-10-02			ENSG00000085511	ENSG00000085511		"Mitogen-activated protein kinase cascade / Kinase kinase kinases"	6856	protein-coding gene	gene with protein product		602425		MEKK4		9305639	Standard	XM_005266988		Approved	MTK1, MAPKKK4, KIAA0213	uc003qtn.3	Q9Y6R4	OTTHUMG00000015968	ENST00000392142.4:c.4193A>G	6.37:g.161529848A>G	ENSP00000375986:p.Lys1398Arg					MAP3K4_ENST00000366919.2_Missense_Mutation_p.K1348R|MAP3K4_ENST00000366920.2_Missense_Mutation_p.K1394R|MAP3K4_ENST00000348824.7_Missense_Mutation_p.K1344R	p.K1398R	NM_005922.2	NP_005913.2	Q9Y6R4	M3K4_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05)	22	4341	+		Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771)	1398			Protein kinase.		A6H8W0|B7ZLD3|B9EG75|Q5VTT8|Q5VTT9|Q92612|Q9H408	Missense_Mutation	SNP	ENST00000392142.4	37	c.4193A>G	CCDS34565.1	.	.	.	.	.	.	.	.	.	.	A	26.7	4.759849	0.89932	.	.	ENSG00000085511	ENST00000366919;ENST00000392142;ENST00000540111;ENST00000366920;ENST00000348824	T;T;T;T	0.23754	1.89;1.89;1.89;1.89	4.51	4.51	0.55191	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.10294	0.0252	N	0.10916	0.065	0.58432	D	0.999998	B;B;P;P	0.46142	0.026;0.004;0.715;0.873	B;B;B;P	0.48654	0.016;0.012;0.243;0.585	T	0.12116	-1.0560	10	0.30854	T	0.27	-10.7567	12.6724	0.56874	1.0:0.0:0.0:0.0	.	1394;334;1348;1398	F5H538;Q9P1M2;Q9Y6R4-2;Q9Y6R4	.;.;.;M3K4_HUMAN	R	1348;1398;1348;1394;1344	ENSP00000355886:K1348R;ENSP00000375986:K1398R;ENSP00000355887:K1394R;ENSP00000297332:K1344R	ENSP00000297332:K1344R	K	+	2	0	MAP3K4	161449838	1.000000	0.71417	0.990000	0.47175	0.995000	0.86356	9.245000	0.95431	1.800000	0.52685	0.528000	0.53228	AAA		0.423	MAP3K4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042988.3			7	165	0	0	0	1	0	7	165					G	161529848	A	G	161529848	3	3	380	1	0	0	0	0	1	0	0	0	9252	14	1	4	4279	4	MAP3K4	6	161529848	Missense_Mutation	SNP	A	TCGA-V1-A8X3-01A-11D-A377-08	5779728	161529848	9585219	13	18713											
SAMD9L	219285	broad.mit.edu	37	chr7	92763220	92763220	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccaggatactttgccacctcGataaaagtgttcttcttttg	9	15	7	10	1	2	0	0	0	2	0	3	2	2	1	3	1	2	1	3	1	3	7	rs369074740		TCGA-V1-A8X3-01A-11D-A377-08	TCGA-V1-A8X3-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	59cd7fc8-c912-417b-9d55-f0b4918823bb	e25c2cff-eb3c-4e65-8ecd-4e2bf1395062	g.chr7:92763220G>A	ENST00000318238.4	-	5	3281	c.2065C>T	c.(2065-2067)Cga>Tga	p.R689*	SAMD9L_ENST00000411955.1_Nonsense_Mutation_p.R689*|SAMD9L_ENST00000437805.1_Nonsense_Mutation_p.R689*	NM_152703.2	NP_689916.2	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like	689					common myeloid progenitor cell proliferation (GO:0035726)|endosomal vesicle fusion (GO:0034058)|hematopoietic progenitor cell differentiation (GO:0002244)|regulation of protein catabolic process (GO:0042176)|spleen development (GO:0048536)|stem cell division (GO:0017145)	early endosome (GO:0005769)				central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			TTGCCACCTCGATAAAAGTGT	0.333																																						ENST00000318238.4																			0				central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88						c.(2065-2067)Cga>Tga		sterile alpha motif domain containing 9-like		G	stop/ARG	1,4405	2.1+/-5.4	0,1,2202	55	58	57		2065	4.8	1	7		57	0,8598		0,0,4299	no	stop-gained	SAMD9L	NM_152703.2		0,1,6501	AA,AG,GG		0.0,0.0227,0.0077		689/1585	92763220	1,13003	2203	4299	6502	SO:0001587	stop_gained	219285							g.chr7:92763220G>A	AB095926	CCDS34681.1	7q21.2	2013-01-10		2005-04-26	ENSG00000177409	ENSG00000177409		"Sterile alpha motif (SAM) domain containing"	1349	protein-coding gene	gene with protein product		611170	"chromosome 7 open reading frame 6"	C7orf6			Standard	NM_152703		Approved	KIAA2005, FLJ39885	uc003umh.1	Q8IVG5	OTTHUMG00000155807	ENST00000318238.4:c.2065C>T	7.37:g.92763220G>A	ENSP00000326247:p.Arg689*					SAMD9L_ENST00000437805.1_Nonsense_Mutation_p.R689*|SAMD9L_ENST00000411955.1_Nonsense_Mutation_p.R689*	p.R689*	NM_152703.2	NP_689916.2	Q8IVG5	SAM9L_HUMAN	STAD - Stomach adenocarcinoma(171;0.000302)		5	3281	-	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		689					A0JP23|A0JP24|A0PJG8|A4D1G8|D6W5Q6|Q2TV71|Q2TV75|Q2UZV8|Q8IWI4|Q8N3L9|Q8N875	Nonsense_Mutation	SNP	ENST00000318238.4	37	c.2065C>T	CCDS34681.1	.	.	.	.	.	.	.	.	.	.	G	47	13.076947	0.99718	2.27E-4	0.0	ENSG00000177409	ENST00000318238;ENST00000411955;ENST00000437805	.	.	.	4.77	4.77	0.60923	.	0.094899	0.42172	D	0.000760	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-9.4538	17.5752	0.87946	0.0:0.0:1.0:0.0	.	.	.	.	X	689	.	ENSP00000326247:R689X	R	-	1	2	SAMD9L	92601156	0.988000	0.35896	1.000000	0.80357	0.351000	0.29236	2.518000	0.45537	2.490000	0.84030	0.467000	0.42956	CGA		0.333	SAMD9L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341730.1	NM_152703		12	74	0	0	0	1	0	12	74					A	92763220	G	A	92763220	4	1	380	1	0	0	0	0	0	1	0	0	13827	1066	37	2	2693	2	SAMD9L	7	92763220	Nonsense_Mutation	SNP	G	TCGA-V1-A8X3-01A-11D-A377-08		92763220	66375443	14	18714											
FLNC	2318	broad.mit.edu	37	chr7	128484281	128484281	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cacccggtgcctggcagcccGtttgctgtggagggtgtcct	3	10	15	13	2	0	0	0	0	0	0	1	1	1	1	4	4	3	3	4	4	0	1	rs373694043		TCGA-V1-A8X3-01A-11D-A377-08	TCGA-V1-A8X3-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	59cd7fc8-c912-417b-9d55-f0b4918823bb	e25c2cff-eb3c-4e65-8ecd-4e2bf1395062	g.chr7:128484281G>A	ENST00000325888.8	+	20	3414	c.3153G>A	c.(3151-3153)ccG>ccA	p.P1051P	FLNC_ENST00000346177.6_Silent_p.P1051P	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	1051					cell junction assembly (GO:0034329)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|cytoskeletal protein binding (GO:0008092)			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						CTGGCAGCCCGTTTGCTGTGG	0.627																																						ENST00000325888.8																			0				biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						c.(3151-3153)ccG>ccA		filamin C, gamma		C	,	0,4044		0,0,2022	27	30	29		3153,3153	5.1	1	7		29	3,8337		0,3,4167	no	coding-synonymous,coding-synonymous	FLNC	NM_001127487.1,NM_001458.4	,	0,3,6189	AA,AG,GG		0.036,0.0,0.0242	,	1051/2693,1051/2726	128484281	3,12381	2022	4170	6192	SO:0001819	synonymous_variant	2318				cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding	g.chr7:128484281G>A	AB208865	CCDS43644.1, CCDS47705.1	7q32-q35	2014-09-17	2009-07-23		ENSG00000128591	ENSG00000128591			3756	protein-coding gene	gene with protein product	"actin binding protein 280"	102565	"filamin C, gamma (actin binding protein 280)"	FLN2		7689010, 8088838	Standard	NM_001458		Approved	ABP-280, ABPL	uc003vnz.4	Q14315	OTTHUMG00000023627	ENST00000325888.8:c.3153G>A	7.37:g.128484281G>A						FLNC_ENST00000346177.6_Silent_p.P1051P	p.P1051P	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN			20	3414	+			1051					B2ZZ88|O95303|Q07985|Q9NS12|Q9NYE5|Q9UMR8|Q9Y503	Silent	SNP	ENST00000325888.8	37	c.3153G>A	CCDS43644.1																																																																																				0.627	FLNC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059948.3			3	20	0	0	0	1	0	3	20					A	128484281	G	A	128484281	2	1	380	1	0	0	0	0	0	0	0	1	5935	1132	40	1		1	FLNC	7	128484281	Silent	SNP	G	TCGA-V1-A8X3-01A-11D-A377-08	35721061	128484281	30654382	15	18715											
UNC5D	137970	broad.mit.edu	37	chr8	35406946	35406946	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aggtgcaaagcgaggccagcCatgcagatattcttcaaatg	13	8	11	9	1	2	1	1	0	1	1	2	2	2	1	2	2	4	2	2	2	3	3			TCGA-V1-A8X3-01A-11D-A377-08	TCGA-V1-A8X3-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	59cd7fc8-c912-417b-9d55-f0b4918823bb	e25c2cff-eb3c-4e65-8ecd-4e2bf1395062	g.chr8:35406946C>T	ENST00000404895.2	+	2	568	c.240C>T	c.(238-240)gcC>gcT	p.A80A	UNC5D_ENST00000420357.1_Silent_p.A80A|UNC5D_ENST00000416672.1_Silent_p.A80A|UNC5D_ENST00000453357.2_Silent_p.A75A|UNC5D_ENST00000287272.2_Silent_p.A80A	NM_080872.2	NP_543148.2	Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D (C. elegans)	80	Ig-like.				apoptotic process (GO:0006915)|axon guidance (GO:0007411)|pyramidal neuron differentiation (GO:0021859)|regulation of neuron migration (GO:2001222)|signal transduction (GO:0007165)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)				NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		CGAGGCCAGCCATGCAGATAT	0.517																																						ENST00000287272.2																			0				NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112						c.(238-240)gcC>gcT		unc-5 homolog D (C. elegans)							63	57	59					8																	35406946		2203	4300	6503	SO:0001819	synonymous_variant	137970				apoptosis|axon guidance	integral to membrane	receptor activity	g.chr8:35406946C>T	AB055056	CCDS6093.2	8p12	2013-01-11			ENSG00000156687	ENSG00000156687		"Immunoglobulin superfamily / I-set domain containing"	18634	protein-coding gene	gene with protein product						18402767	Standard	NM_080872		Approved	KIAA1777, Unc5h4	uc003xjr.2	Q6UXZ4	OTTHUMG00000157145	ENST00000404895.2:c.240C>T	8.37:g.35406946C>T						UNC5D_ENST00000453357.2_Silent_p.A75A|UNC5D_ENST00000420357.1_Silent_p.A80A|UNC5D_ENST00000416672.1_Silent_p.A80A|UNC5D_ENST00000404895.2_Silent_p.A80A	p.A80A			Q6UXZ4	UNC5D_HUMAN		READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)	2	260	+			80			Ig-like.		Q8WYP7	Silent	SNP	ENST00000404895.2	37	c.240C>T	CCDS6093.2																																																																																				0.517	UNC5D-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000347586.2			11	43	0	0	0	1	0	11	43					T	35406946	C	T	35406946	2	4	380	1	0	0	0	0	0	0	0	1	16992	581	21	3		3	UNC5D	8	35406946	Silent	SNP	C	TCGA-V1-A8X3-01A-11D-A377-08		35406946	110957076	16	18716											
PDE7A	5150	broad.mit.edu	37	chr8	66701169	66701169	+	Intron	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccagacaccagatcaatgtaAttcccattggatcaatcaaa	16	9	5	11	0	3	2	3	0	0	2	4	3	4	3	3	1	0	1	3	1	4	3			TCGA-V1-A8X3-01A-11D-A377-08	TCGA-V1-A8X3-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	59cd7fc8-c912-417b-9d55-f0b4918823bb	e25c2cff-eb3c-4e65-8ecd-4e2bf1395062	g.chr8:66701169A>C	ENST00000401827.3	-	2	582				PDE7A_ENST00000396642.3_Intron|PDE7A_ENST00000379419.4_Missense_Mutation_p.I3S	NM_001242318.2	NP_001229247.1	Q13946	PDE7A_HUMAN	phosphodiesterase 7A						cAMP catabolic process (GO:0006198)|signal transduction (GO:0007165)	cytosol (GO:0005829)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|metal ion binding (GO:0046872)			large_intestine(5)|lung(3)|stomach(1)|urinary_tract(1)	10			Epithelial(68;0.0509)|BRCA - Breast invasive adenocarcinoma(89;0.111)|all cancers(69;0.168)|OV - Ovarian serous cystadenocarcinoma(28;0.238)		Caffeine(DB00201)|Dyphylline(DB00651)|Ketotifen(DB00920)	GATCAATGTAATTCCCATTGG	0.418																																						ENST00000379419.4																			0				large_intestine(5)|lung(3)|stomach(1)|urinary_tract(1)	10						c.(7-9)aTt>aGt		phosphodiesterase 7A	Dyphylline(DB00651)|Ketotifen(DB00920)						127	115	119					8																	66701169		2203	4300	6503	SO:0001627	intron_variant	5150					cell fraction|cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding	g.chr8:66701169A>C	L12052	CCDS34901.1, CCDS56538.1	8q13	2008-03-18				ENSG00000205268	3.1.4.17	"Phosphodiesterases"	8791	protein-coding gene	gene with protein product		171885				8389765, 9521885	Standard	NM_001242318		Approved	HCP1	uc003xvq.3	Q13946		ENST00000401827.3:c.139-6091T>G	8.37:g.66701169A>C						PDE7A_ENST00000396642.3_Intron|PDE7A_ENST00000401827.3_Intron	p.I3S	NM_002603.3	NP_002594.1	Q13946	PDE7A_HUMAN	Epithelial(68;0.0509)|BRCA - Breast invasive adenocarcinoma(89;0.111)|all cancers(69;0.168)|OV - Ovarian serous cystadenocarcinoma(28;0.238)		1	150	-			0					A0AVH6|A8K436|A8K9G5|O15380|Q96T72	Missense_Mutation	SNP	ENST00000401827.3	37	c.8T>G	CCDS56538.1	.	.	.	.	.	.	.	.	.	.	A	22.1	4.250216	0.80024	.	.	ENSG00000205268	ENST00000379419;ENST00000523253	T;T	0.70282	-0.47;0.6	5.62	5.62	0.85841	.	0.780131	0.12652	N	0.450382	T	0.70824	0.3268	.	.	.	0.80722	D	1	P	0.46512	0.879	B	0.42916	0.402	T	0.73496	-0.3964	9	0.87932	D	0	.	15.3002	0.73945	1.0:0.0:0.0:0.0	.	3	Q13946-2	.	S	3	ENSP00000368730:I3S;ENSP00000430262:I3S	ENSP00000368730:I3S	I	-	2	0	PDE7A	66863723	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.555000	0.73928	2.257000	0.74773	0.455000	0.32223	ATT		0.418	PDE7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378905.1			38	87	0	0	0	1	0	38	87					C	66701169	A	C	66701169	1	2	380	0	1	0	0	0	0	0	0	0	11651	101	4	5		5	PDE7A	8	66701169	Intron	SNP	A	TCGA-V1-A8X3-01A-11D-A377-08	31294223	66701169	79662853	17	18717											
UAP1L1	91373	broad.mit.edu	37	chr9	139975261	139975261	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ctgctcacccagcactaccgGtgggctctgcgggccggggc	4	6	15	16	3	2	0	1	0	1	0	2	0	2	0	3	5	4	3	3	5	1	1			TCGA-V1-A8X3-01A-11D-A377-08	TCGA-V1-A8X3-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	59cd7fc8-c912-417b-9d55-f0b4918823bb	e25c2cff-eb3c-4e65-8ecd-4e2bf1395062	g.chr9:139975261G>A	ENST00000409858.3	+	7	1331	c.1299G>A	c.(1297-1299)cgG>cgA	p.R433R	UAP1L1_ENST00000360271.3_Silent_p.R310R	NM_207309.2	NP_997192.2	Q3KQV9	UAP1L_HUMAN	UDP-N-acetylglucosamine pyrophosphorylase 1 like 1	433							uridylyltransferase activity (GO:0070569)			kidney(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	8	all_cancers(76;0.0926)	Myeloproliferative disorder(178;0.0821)	STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;2.96e-05)|Epithelial(140;0.000486)		AGCACTACCGGTGGGCTCTGC	0.687																																						ENST00000409858.3																			0				kidney(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	8						c.(1297-1299)cgG>cgA		UDP-N-acteylglucosamine pyrophosphorylase 1-like 1							27	32	30					9																	139975261		2203	4295	6498	SO:0001819	synonymous_variant	91373						nucleotidyltransferase activity	g.chr9:139975261G>A	AK022632	CCDS7028.2	9q34.3	2014-07-31	2014-07-31		ENSG00000197355	ENSG00000197355			28082	protein-coding gene	gene with protein product							Standard	NM_207309		Approved		uc010ncb.3	Q3KQV9	OTTHUMG00000020962	ENST00000409858.3:c.1299G>A	9.37:g.139975261G>A						UAP1L1_ENST00000360271.3_Silent_p.R310R	p.R433R	NM_207309.2	NP_997192.2	Q3KQV9	UAP1L_HUMAN	STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;2.96e-05)|Epithelial(140;0.000486)	7	1331	+	all_cancers(76;0.0926)	Myeloproliferative disorder(178;0.0821)	433					A2AMJ8|Q5SPZ2|Q69YQ3|Q6ZR38	Silent	SNP	ENST00000409858.3	37	c.1299G>A	CCDS7028.2																																																																																				0.687	UAP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055216.2	XM_038063		10	33	0	0	0	1	0	10	33					A	139975261	G	A	139975261	2	1	380	1	0	0	0	0	0	0	0	1	16823	1248	44	3		3	UAP1L1	9	139975261	Silent	SNP	G	TCGA-V1-A8X3-01A-11D-A377-08		139975261	1238170	18	18718											
RBP3	5949	broad.mit.edu	37	chr10	48388029	48388029	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctcggcagaggcatagttaTcagccaccagcttcccggcc	8	7	11	15	2	1	1	1	0	0	1	3	1	2	1	4	3	2	5	4	3	2	3			TCGA-V1-A8X3-01A-11D-A377-08	TCGA-V1-A8X3-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	59cd7fc8-c912-417b-9d55-f0b4918823bb	e25c2cff-eb3c-4e65-8ecd-4e2bf1395062	g.chr10:48388029T>C	ENST00000224600.4	-	1	2962	c.2849A>G	c.(2848-2850)gAt>gGt	p.D950G	AL731561.2_ENST00000581861.1_RNA	NM_002900.2	NP_002891.1	P10745	RET3_HUMAN	retinol binding protein 3, interstitial	950	4 X approximate tandem repeats.				lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|transport (GO:0006810)|visual perception (GO:0007601)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|interphotoreceptor matrix (GO:0033165)|vesicle (GO:0031982)	retinal binding (GO:0016918)|retinoid binding (GO:0005501)|retinol binding (GO:0019841)|serine-type peptidase activity (GO:0008236)			central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59					Vitamin A(DB00162)	GGCATAGTTATCAGCCACCAG	0.627																																						ENST00000224600.4																			0				central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59						c.(2848-2850)gAt>gGt		retinol binding protein 3, interstitial	Vitamin A(DB00162)						58	58	58					10																	48388029		2202	4300	6502	SO:0001583	missense	5949				lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity	g.chr10:48388029T>C	M22453	CCDS73119.1	10q11.2	2014-05-06	2001-11-28		ENSG00000107618	ENSG00000265203			9921	protein-coding gene	gene with protein product		180290	"retinol-binding protein 3, interstitial"				Standard	NM_002900		Approved	D10S64, D10S65, D10S66, RP66	uc001jez.3	P10745	OTTHUMG00000188321	ENST00000224600.4:c.2849A>G	10.37:g.48388029T>C	ENSP00000224600:p.Asp950Gly						p.D950G	NM_002900.2	NP_002891.1	P10745	RET3_HUMAN			1	2962	-			950			4 X approximate tandem repeats.		Q0QD34|Q5VSR0|Q8IXN0	Missense_Mutation	SNP	ENST00000224600.4	37	c.2849A>G	CCDS7218.1	.	.	.	.	.	.	.	.	.	.	T	12.14	1.847122	0.32606	.	.	ENSG00000107618	ENST00000224600	T	0.65916	-0.18	5.56	5.56	0.83823	.	0.191149	0.53938	D	0.000045	T	0.72309	0.3444	M	0.81497	2.545	0.51233	D	0.999913	D	0.56521	0.976	P	0.50109	0.631	T	0.78079	-0.2344	10	0.87932	D	0	-24.6499	14.9032	0.70696	0.0:0.0:0.0:1.0	.	950	P10745	RET3_HUMAN	G	950	ENSP00000224600:D950G	ENSP00000224600:D950G	D	-	2	0	RBP3	48008035	1.000000	0.71417	0.985000	0.45067	0.172000	0.22775	5.622000	0.67750	2.133000	0.65898	0.533000	0.62120	GAT		0.627	RBP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047888.1	NM_002900		20	38	0	0	0	1	0	20	38					C	48388029	T	C	48388029	3	2	380	1	0	0	0	0	1	0	0	0	13157	1435	50	4	910	4	RBP3	10	48388029	Missense_Mutation	SNP	T	TCGA-V1-A8X3-01A-11D-A377-08		48388029	87146718	19	18719											
CDH23	64072	broad.mit.edu	37	chr10	73326638	73326638	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgcggtatcgtcacagtgaTccgggagctggactacgaga	9	7	14	11	5	1	2	1	1	0	1	3	5	2	4	2	3	2	2	2	3	2	2			TCGA-V1-A8X3-01A-11D-A377-08	TCGA-V1-A8X3-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	59cd7fc8-c912-417b-9d55-f0b4918823bb	e25c2cff-eb3c-4e65-8ecd-4e2bf1395062	g.chr10:73326638T>A	ENST00000224721.6	+	6	589	c.584T>A	c.(583-585)aTc>aAc	p.I195N	CDH23_ENST00000461841.3_Missense_Mutation_p.I235N|CDH23_ENST00000299366.7_Missense_Mutation_p.I235N|CDH23_ENST00000398809.4_Missense_Mutation_p.I190N|CDH23_ENST00000398842.3_Missense_Mutation_p.I190N	NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	190	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium ion transport (GO:0006816)|calcium-dependent cell-cell adhesion (GO:0016339)|cytosolic calcium ion homeostasis (GO:0051480)|equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						GTCACAGTGATCCGGGAGCTG	0.652																																						ENST00000224721.6																			0				NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						c.(583-585)aTc>aAc		cadherin-related 23							44	47	46					10																	73326638		2050	4181	6231	SO:0001583	missense	64072				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding	g.chr10:73326638T>A	AY010111	CCDS53540.1, CCDS73146.1	10q22.1	2014-08-08	2010-01-25		ENSG00000107736	ENSG00000107736		"Cadherins / Cadherin-related"	13733	protein-coding gene	gene with protein product	"cadherin-related family member 23"	605516	"cadherin related 23", "cadherin-like 23"	DFNB12, USH1D		11090341	Standard	NM_022124		Approved	CDHR23	uc001jrx.4	Q9H251	OTTHUMG00000019347	ENST00000224721.6:c.584T>A	10.37:g.73326638T>A	ENSP00000224721:p.Ile195Asn					CDH23_ENST00000461841.3_Missense_Mutation_p.I235N|CDH23_ENST00000398809.4_Missense_Mutation_p.I190N|CDH23_ENST00000398842.3_Missense_Mutation_p.I190N|CDH23_ENST00000299366.7_Missense_Mutation_p.I235N	p.I195N	NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN			6	589	+			190			Cadherin 2.		C4IXS9|F6U049|Q5QGS1|Q5QGS2|Q5QGS5|Q5QGS6|Q5XKN2|Q6UWW1|Q96JL3|Q9H4K9	Missense_Mutation	SNP	ENST00000224721.6	37	c.584T>A		.	.	.	.	.	.	.	.	.	.	T	16.34	3.097059	0.56075	.	.	ENSG00000107736	ENST00000398860;ENST00000398855;ENST00000398828;ENST00000398809;ENST00000398842;ENST00000299366;ENST00000224721;ENST00000416060	T;T	0.01998	4.51;4.51	5.7	0.248	0.15526	Cadherin (4);Cadherin-like (1);	0.255042	0.29660	N	0.011526	T	0.02727	0.0082	N	0.04508	-0.205	0.80722	D	1	B;B;P;D	0.76494	0.181;0.02;0.479;0.999	B;B;B;D	0.81914	0.066;0.027;0.231;0.995	T	0.61893	-0.6969	10	0.20046	T	0.44	.	9.4679	0.38824	0.0:0.3094:0.0:0.6906	.	190;190;190;190	A5D6V9;Q9H251;Q9H251-5;E7ESV7	.;CAD23_HUMAN;.;.	N	195;190;190;190;190;195;195;131	ENSP00000381789:I190N;ENSP00000381822:I190N	ENSP00000224721:I195N	I	+	2	0	CDH23	72996644	0.395000	0.25254	0.986000	0.45419	0.912000	0.54170	0.134000	0.15932	-0.191000	0.10448	0.459000	0.35465	ATC		0.652	CDH23-001	PUTATIVE	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000051227.4	NM_052836		5	36	0	0	0	1	0	5	36					A	73326638	T	A	73326638	3	1	380	1	0	0	0	0	1	0	0	0	3108	1435	50	5	591	5	CDH23	10	73326638	Missense_Mutation	SNP	T	TCGA-V1-A8X3-01A-11D-A377-08	24938609	73326638	62208109	20	18720											
HBD	3045	broad.mit.edu	37	chr11	5255334	5255334	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	atcactaaaggcacctagcaCcttcttgccatgagccttca	11	10	6	14	0	3	1	2	1	1	0	3	1	3	1	4	1	3	2	4	1	3	5			TCGA-V1-A8X3-01A-11D-A377-08	TCGA-V1-A8X3-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	59cd7fc8-c912-417b-9d55-f0b4918823bb	e25c2cff-eb3c-4e65-8ecd-4e2bf1395062	g.chr11:5255334C>T	ENST00000380299.3	-	2	416	c.202G>A	c.(202-204)Gtg>Atg	p.V68M	HBD_ENST00000292901.3_Missense_Mutation_p.V68M	NM_000519.3	NP_000510.1	P02042	HBD_HUMAN	hemoglobin, delta	68					blood coagulation (GO:0007596)	blood microparticle (GO:0072562)|cytosol (GO:0005829)|hemoglobin complex (GO:0005833)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxygen binding (GO:0019825)|oxygen transporter activity (GO:0005344)			endometrium(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)	16		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;5.69e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GCACCTAGCACCTTCTTGCCA	0.542																																						ENST00000380299.3																			0				endometrium(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)	16						c.(202-204)Gtg>Atg		hemoglobin, delta							164	140	148					11																	5255334		2201	4298	6499	SO:0001583	missense	3045				blood coagulation	hemoglobin complex	heme binding|oxygen binding|oxygen transporter activity	g.chr11:5255334C>T	AY034468	CCDS31376.1	11p15.5	2012-10-02			ENSG00000223609	ENSG00000223609			4829	protein-coding gene	gene with protein product		142000				2649166	Standard	NM_000519		Approved		uc001maf.1	P02042	OTTHUMG00000066674	ENST00000380299.3:c.202G>A	11.37:g.5255334C>T	ENSP00000369654:p.Val68Met					HBD_ENST00000292901.3_Missense_Mutation_p.V68M	p.V68M	NM_000519.3	NP_000510.1	P02042	HBD_HUMAN		Epithelial(150;5.69e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)	2	416	-		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)	68					Q3Y5H3|Q8WXT7	Missense_Mutation	SNP	ENST00000380299.3	37	c.202G>A	CCDS31376.1	.	.	.	.	.	.	.	.	.	.	C	17.62	3.435136	0.62955	.	.	ENSG00000223609	ENST00000292901;ENST00000380299;ENST00000429817	D;D;D	0.96992	-3.88;-4.2;-3.88	4.33	2.4	0.29515	Globin-like (1);Globin, structural domain (1);	0.058587	0.64402	D	0.000002	D	0.97914	0.9314	M	0.90705	3.14	0.53688	D	0.999972	D	0.89917	1.0	D	0.70016	0.967	D	0.97526	1.0076	10	0.87932	D	0	-7.611	9.9452	0.41604	0.0:0.8258:0.0:0.1742	.	68	P02042	HBD_HUMAN	M	68	ENSP00000292901:V68M;ENSP00000369654:V68M;ENSP00000393810:V68M	ENSP00000292901:V68M	V	-	1	0	HBD	5211910	0.955000	0.32602	0.998000	0.56505	0.853000	0.48598	2.162000	0.42367	0.545000	0.28902	0.585000	0.79938	GTG		0.542	HBD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142970.1	NM_000519		4	102	0	0	0	1	0	4	102					T	5255334	C	T	5255334	3	4	380	1	0	0	0	0	1	0	0	0	6979	507	18	3	249	3	HBD	11	5255334	Missense_Mutation	SNP	C	TCGA-V1-A8X3-01A-11D-A377-08		5255334	129751182	21	18721											
NOX4	50507	broad.mit.edu	37	chr11	89070616	89070616	+	Splice_Site	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gataacatcaaccacataccTgtatcccatctgtttgactg	12	12	5	12	0	2	1	1	1	1	0	3	2	3	1	3	0	3	2	3	0	4	4			TCGA-V1-A8X3-01A-11D-A377-08	TCGA-V1-A8X3-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	59cd7fc8-c912-417b-9d55-f0b4918823bb	e25c2cff-eb3c-4e65-8ecd-4e2bf1395062	g.chr11:89070616T>A	ENST00000263317.4	-	16	1752	c.1514A>T	c.(1513-1515)cAg>cTg	p.Q505L	NOX4_ENST00000532825.1_Splice_Site_p.Q441L|NOX4_ENST00000525196.1_Splice_Site_p.Q269L|NOX4_ENST00000535633.1_Splice_Site_p.Q481L|NOX4_ENST00000424319.1_Splice_Site_p.Q481L|NOX4_ENST00000343727.5_Splice_Site_p.Q481L|NOX4_ENST00000375979.3_Splice_Site_p.Q198L|NOX4_ENST00000413594.2_Splice_Site_p.Q526L|NOX4_ENST00000531342.1_Splice_Site_p.Q158L|NOX4_ENST00000534731.1_Splice_Site_p.Q465L|NOX4_ENST00000528341.1_Splice_Site_p.Q480L|NOX4_ENST00000527956.1_Splice_Site_p.Q481L|NOX4_ENST00000542487.1_Splice_Site_p.Q481L|NOX4_ENST00000527626.1_Splice_Site_p.Q318L			Q9NPH5	NOX4_HUMAN	NADPH oxidase 4	505	Mediates interaction with TLR4.				bone resorption (GO:0045453)|cardiac muscle cell differentiation (GO:0055007)|cell aging (GO:0007569)|cell morphogenesis (GO:0000902)|cellular response to cAMP (GO:0071320)|cellular response to gamma radiation (GO:0071480)|cellular response to glucose stimulus (GO:0071333)|cellular response to transforming growth factor beta stimulus (GO:0071560)|homocysteine metabolic process (GO:0050667)|inflammatory response (GO:0006954)|negative regulation of cell proliferation (GO:0008285)|oxidation-reduction process (GO:0055114)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of smooth muscle cell migration (GO:0014911)|positive regulation of stress fiber assembly (GO:0051496)|reactive oxygen species metabolic process (GO:0072593)|response to hypoxia (GO:0001666)|superoxide anion generation (GO:0042554)	apical plasma membrane (GO:0016324)|endoplasmic reticulum (GO:0005783)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|NADPH oxidase complex (GO:0043020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|heme binding (GO:0020037)|modified amino acid binding (GO:0072341)|NAD(P)H oxidase activity (GO:0016174)|nucleotide binding (GO:0000166)|oxygen sensor activity (GO:0019826)|superoxide-generating NADPH oxidase activity (GO:0016175)			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(20)|ovary(2)|prostate(3)|skin(2)	44		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.011)				ACCACATACCTGTATCCCATC	0.408																																						ENST00000535633.1																			0				NS(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(20)|ovary(2)|prostate(3)|skin(2)	44						c.e16+1		NADPH oxidase 4							67	59	62					11																	89070616		2201	4298	6499	SO:0001630	splice_region_variant	50507				cell aging|cell morphogenesis|inflammatory response|negative regulation of cell proliferation|superoxide anion generation	endoplasmic reticulum membrane|focal adhesion|integral to membrane|nucleus	electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|nucleotide binding|oxygen sensor activity	g.chr11:89070616T>A	AF254621	CCDS8285.1, CCDS44695.1, CCDS44696.1, CCDS73361.1, CCDS73362.1	11q14.2-q21	2008-02-05			ENSG00000086991	ENSG00000086991			7891	protein-coding gene	gene with protein product		605261					Standard	NM_001143837		Approved	KOX-1, KOX	uc001pct.3	Q9NPH5	OTTHUMG00000167298	ENST00000263317.4:c.1515+1A>T	11.37:g.89070616T>A						NOX4_ENST00000525196.1_Splice_Site_p.Q269_splice|NOX4_ENST00000375979.3_Splice_Site_p.Q198_splice|NOX4_ENST00000263317.4_Splice_Site_p.Q505_splice|NOX4_ENST00000527626.1_Splice_Site_p.Q318_splice|NOX4_ENST00000542487.1_Splice_Site_p.Q481_splice|NOX4_ENST00000424319.1_Splice_Site_p.Q481_splice|NOX4_ENST00000528341.1_Splice_Site_p.Q480_splice|NOX4_ENST00000532825.1_Splice_Site_p.Q441_splice|NOX4_ENST00000534731.1_Splice_Site_p.Q465_splice|NOX4_ENST00000413594.2_Splice_Site_p.Q526_splice|NOX4_ENST00000527956.1_Splice_Site_p.Q481_splice|NOX4_ENST00000531342.1_Splice_Site_p.Q158_splice|NOX4_ENST00000343727.5_Splice_Site_p.Q481_splice	p.Q481_splice	NM_001143836.1|NM_016931.3	NP_001137308.1|NP_058627.1	Q9NPH5	NOX4_HUMAN			16	1752	-		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.011)	505			Mediates interaction with TLR4.		A8K715|B7Z520|E7EMD7|Q5K3R4|Q5K3R5|Q5K3R6|Q5K3R8|Q7Z7G3|Q86V92	Splice_Site	SNP	ENST00000263317.4	37	c.1443_splice	CCDS8285.1	.	.	.	.	.	.	.	.	.	.	T	22.7	4.326565	0.81690	.	.	ENSG00000086991	ENST00000424319;ENST00000535633;ENST00000343727;ENST00000534731;ENST00000525196;ENST00000263317;ENST00000532825;ENST00000527956;ENST00000542487;ENST00000527626;ENST00000528341;ENST00000413594;ENST00000531342;ENST00000375979	D;D;D;T;T;D;T;D;D;D;D;D;T;D	0.95035	-3.59;-3.59;-3.59;-0.05;-0.05;-3.59;-0.05;-3.59;-3.59;-3.41;-3.59;-3.59;-0.05;-3.59	5.18	5.18	0.71444	Ferric reductase, NAD binding (1);	0.260219	0.38548	N	0.001658	D	0.95865	0.8654	L	0.52266	1.64	0.58432	D	0.999999	P;D;D;D;D;P;P;B	0.89917	0.941;0.976;1.0;0.997;0.99;0.473;0.765;0.254	P;D;D;D;D;B;B;B	0.77557	0.856;0.935;0.99;0.973;0.92;0.088;0.378;0.16	D	0.95398	0.8487	9	.	.	.	-5.4174	14.7147	0.69259	0.0:0.0:0.0:1.0	.	441;318;480;269;158;198;465;505	E9PMY6;E9PR43;E9PPP2;E9PI95;Q9NPH5-3;Q9NPH5-4;Q9NPH5-6;Q9NPH5	.;.;.;.;.;.;.;NOX4_HUMAN	L	481;481;481;465;269;505;441;481;481;318;480;526;158;198	ENSP00000412446:Q481L;ENSP00000440172:Q481L;ENSP00000344747:Q481L;ENSP00000436892:Q465L;ENSP00000436716:Q269L;ENSP00000263317:Q505L;ENSP00000434924:Q441L;ENSP00000433797:Q481L;ENSP00000439373:Q481L;ENSP00000436093:Q318L;ENSP00000436970:Q480L;ENSP00000405705:Q526L;ENSP00000435039:Q158L;ENSP00000365146:Q198L	.	Q	-	2	0	NOX4	88710264	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.205000	0.77881	1.947000	0.56498	0.455000	0.32223	CAG		0.408	NOX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394054.1	NM_016931	Missense_Mutation	3	49	0	0	0	1	0	3	49					A	89070616	T	A	89070616	5	1	380	1	0	0	0	0	0	0	1	0	10558	1594	55	5	234	5	NOX4	11	89070616	Splice_Site	SNP	T	TCGA-V1-A8X3-01A-11D-A377-08	83815282	89070616	45935900	22	18722											
ACVRL1	94	broad.mit.edu	37	chr12	52306277	52306277	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatgaccttgggctcccccAggaaaggccttctgatgctg	7	9	11	14	0	1	2	0	2	1	0	2	3	2	3	5	3	1	2	5	3	1	2			TCGA-V1-A8X3-01A-11D-A377-08	TCGA-V1-A8X3-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	59cd7fc8-c912-417b-9d55-f0b4918823bb	e25c2cff-eb3c-4e65-8ecd-4e2bf1395062	g.chr12:52306277A>G	ENST00000388922.4	+	2	302	c.19A>G	c.(19-21)Agg>Ggg	p.R7G	ACVRL1_ENST00000550683.1_Missense_Mutation_p.R21G|ACVRL1_ENST00000419526.2_Missense_Mutation_p.R21G	NM_000020.2	NP_000011.2	P37023	ACVL1_HUMAN	activin A receptor type II-like 1	7					activin receptor signaling pathway (GO:0032924)|angiogenesis (GO:0001525)|artery development (GO:0060840)|blood circulation (GO:0008015)|blood vessel endothelial cell proliferation involved in sprouting angiogenesis (GO:0002043)|blood vessel maturation (GO:0001955)|blood vessel remodeling (GO:0001974)|BMP signaling pathway (GO:0030509)|cellular response to BMP stimulus (GO:0071773)|cellular response to transforming growth factor beta stimulus (GO:0071560)|endothelial tube morphogenesis (GO:0061154)|in utero embryonic development (GO:0001701)|lymphangiogenesis (GO:0001946)|lymphatic endothelial cell differentiation (GO:0060836)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA biosynthetic process (GO:2000279)|negative regulation of endothelial cell differentiation (GO:0045602)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of focal adhesion assembly (GO:0051895)|positive regulation of angiogenesis (GO:0045766)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of blood pressure (GO:0008217)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of DNA replication (GO:0006275)|regulation of endothelial cell proliferation (GO:0001936)|regulation of transcription, DNA-templated (GO:0006355)|retina vasculature development in camera-type eye (GO:0061298)|signal transduction (GO:0007165)|transforming growth factor beta receptor signaling pathway (GO:0007179)|venous blood vessel development (GO:0060841)|wound healing, spreading of epidermal cells (GO:0035313)	cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)	activin binding (GO:0048185)|activin receptor activity, type I (GO:0016361)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|SMAD binding (GO:0046332)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta receptor activity, type I (GO:0005025)|transforming growth factor beta-activated receptor activity (GO:0005024)|transmembrane receptor protein serine/threonine kinase activity (GO:0004675)			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	20				BRCA - Breast invasive adenocarcinoma(357;0.0991)	Adenosine triphosphate(DB00171)	GGGCTCCCCCAGGAAAGGCCT	0.592																																						ENST00000550683.1																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	20						c.(61-63)Agg>Ggg		activin A receptor type II-like 1	Adenosine triphosphate(DB00171)						69	57	61					12																	52306277		2203	4300	6503	SO:0001583	missense	94				blood vessel endothelial cell proliferation involved in sprouting angiogenesis|blood vessel maturation|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of endothelial cell migration|negative regulation of focal adhesion assembly|positive regulation of BMP signaling pathway|positive regulation of transcription, DNA-dependent|regulation of blood pressure|regulation of blood vessel endothelial cell migration|regulation of DNA replication|regulation of endothelial cell proliferation|transforming growth factor beta receptor signaling pathway|wound healing, spreading of epidermal cells	cell surface|integral to plasma membrane	activin binding|activin receptor activity, type I|ATP binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity	g.chr12:52306277A>G	L17075	CCDS31804.1	12q13.13	2014-09-17			ENSG00000139567	ENSG00000139567			175	protein-coding gene	gene with protein product		601284		ACVRLK1, ORW2		8397373, 8640225	Standard	NM_000020		Approved	HHT2, ALK1, HHT	uc001rzk.3	P37023	OTTHUMG00000169507	ENST00000388922.4:c.19A>G	12.37:g.52306277A>G	ENSP00000373574:p.Arg7Gly					ACVRL1_ENST00000388922.4_Missense_Mutation_p.R7G|ACVRL1_ENST00000419526.2_Missense_Mutation_p.R21G	p.R21G	NM_001077401.1	NP_001070869.1	P37023	ACVL1_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.0991)	1	162	+			7					A6NGA8	Missense_Mutation	SNP	ENST00000388922.4	37	c.61A>G	CCDS31804.1	.	.	.	.	.	.	.	.	.	.	A	7.935	0.741447	0.15642	.	.	ENSG00000139567	ENST00000388922;ENST00000267008;ENST00000547400;ENST00000550683;ENST00000548659;ENST00000419526	D;D;D;D	0.91686	-2.04;-2.89;-2.1;-2.19	5.28	0.15	0.14883	.	0.323065	0.22376	N	0.060864	T	0.77948	0.4207	N	0.08118	0	0.09310	N	1	B;B	0.22080	0.064;0.016	B;B	0.12156	0.004;0.007	T	0.66077	-0.6013	10	0.36615	T	0.2	.	4.0475	0.09779	0.533:0.1789:0.288:0.0	.	21;7	E7EN07;P37023	.;ACVL1_HUMAN	G	7;7;21;21;21;21	ENSP00000373574:R7G;ENSP00000446724:R21G;ENSP00000447884:R21G;ENSP00000392492:R21G	ENSP00000267008:R7G	R	+	1	2	ACVRL1	50592544	0.212000	0.23540	0.001000	0.08648	0.016000	0.09150	0.702000	0.25631	0.105000	0.17753	0.533000	0.62120	AGG		0.592	ACVRL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404520.2			5	26	0	0	0	1	0	5	26					G	52306277	A	G	52306277	3	3	380	1	0	0	0	0	1	0	0	0	225	179	7	4	21	4	ACVRL1	12	52306277	Missense_Mutation	SNP	A	TCGA-V1-A8X3-01A-11D-A377-08		52306277	81545618	23	18723											
SLITRK5	26050	broad.mit.edu	37	chr13	88330033	88330033	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccacctgcagcagcagcagcAgccgccgccgccaccgcagc	8	1	11	21	4	0	0	0	0	0	0	0	0	0	0	7	0	7	6	7	0	0	0	rs11840163	byFrequency	TCGA-V1-A8X3-01A-11D-A377-08	TCGA-V1-A8X3-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	59cd7fc8-c912-417b-9d55-f0b4918823bb	e25c2cff-eb3c-4e65-8ecd-4e2bf1395062	g.chr13:88330033A>C	ENST00000325089.6	+	2	2609	c.2390A>C	c.(2389-2391)cAg>cCg	p.Q797P	SLITRK5_ENST00000400028.3_Missense_Mutation_p.Q556P	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5	797					adult behavior (GO:0030534)|axonogenesis (GO:0007409)|cardiovascular system development (GO:0072358)|dendrite morphogenesis (GO:0048813)|grooming behavior (GO:0007625)|response to xenobiotic stimulus (GO:0009410)|skin development (GO:0043588)|striatum development (GO:0021756)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81	all_neural(89;0.101)|Medulloblastoma(90;0.163)					cagcagcagcagccgccgccg	0.667													A|||	11	0.00219649	0.0068	0.0014	5008	,	,		9612	0		0.001	False		,,,				2504	0					ENST00000325089.6																			0				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81						c.(2389-2391)cAg>cCg		SLIT and NTRK-like family, member 5		A	PRO/GLN	12,4100		0,12,2044	10	13	12		2390	-0.5	0	13	dbSNP_120	12	0,8060		0,0,4030	yes	missense	SLITRK5	NM_015567.1	76	0,12,6074	CC,CA,AA		0.0,0.2918,0.0986	possibly-damaging	797/959	88330033	12,12160	2056	4030	6086	SO:0001583	missense	26050					integral to membrane		g.chr13:88330033A>C	AB020725	CCDS9465.1	13q31.1	2004-04-16	2004-01-08		ENSG00000165300	ENSG00000165300			20295	protein-coding gene	gene with protein product		609680	"leucine rich repeat containing 11"	LRRC11		10048485, 14557068	Standard	NM_015567		Approved	bA364G4.2, KIAA0918	uc001vln.3	O94991	OTTHUMG00000017167	ENST00000325089.6:c.2390A>C	13.37:g.88330033A>C	ENSP00000366283:p.Gln797Pro					SLITRK5_ENST00000400028.3_Missense_Mutation_p.Q556P	p.Q797P	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN			2	2609	+	all_neural(89;0.101)|Medulloblastoma(90;0.163)		797					B3KNB8|B4DSH5|Q5VT81	Missense_Mutation	SNP	ENST00000325089.6	37	c.2390A>C	CCDS9465.1	.	.	.	.	.	.	.	.	.	.	A	0.018	-1.475059	0.01035	0.002918	0.0	ENSG00000165300	ENST00000325089;ENST00000400028	T;T	0.58652	0.32;0.64	5.14	-0.494	0.12034	.	.	.	.	.	T	0.31451	0.0797	N	0.08118	0	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.19844	-1.0293	8	.	.	.	.	8.3959	0.32557	0.4972:0.4204:0.0:0.0824	rs11840163	556;797	B4DSH5;O94991	.;SLIK5_HUMAN	P	797;556	ENSP00000366283:Q797P;ENSP00000442244:Q556P	.	Q	+	2	0	SLITRK5	87128034	0.987000	0.35691	0.001000	0.08648	0.263000	0.26337	0.922000	0.28734	-0.048000	0.13401	-1.887000	0.00540	CAG		0.667	SLITRK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045416.3			3	22	0	0	0	1	0	3	22					C	88330033	A	C	88330033	3	2	380	1	0	0	0	0	1	0	0	0	14746	188	7	5	2392	5	SLITRK5	13	88330033	Missense_Mutation	SNP	A	TCGA-V1-A8X3-01A-11D-A377-08		88330033	26839845	24	18724											
CUL4A	8451	broad.mit.edu	37	chr13	113909105	113909105	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaggagataaaaatggccacGgggataggtacgaaaactgc	16	5	14	6	2	0	1	0	0	0	1	0	5	0	2	1	5	3	1	1	5	7	3	rs200453565		TCGA-V1-A8X3-01A-11D-A377-08	TCGA-V1-A8X3-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	59cd7fc8-c912-417b-9d55-f0b4918823bb	e25c2cff-eb3c-4e65-8ecd-4e2bf1395062	g.chr13:113909105G>A	ENST00000375440.4	+	17	1935	c.1851G>A	c.(1849-1851)acG>acA	p.T617T	CUL4A_ENST00000326335.4_Silent_p.T517T|CUL4A_ENST00000375441.3_Silent_p.T517T|CUL4A_ENST00000451881.1_Silent_p.T517T	NM_001008895.1	NP_001008895.1	Q13619	CUL4A_HUMAN	cullin 4A	617					cell cycle arrest (GO:0007050)|DNA repair (GO:0006281)|G1/S transition of mitotic cell cycle (GO:0000082)|hemopoiesis (GO:0030097)|intrinsic apoptotic signaling pathway (GO:0097193)|negative regulation of cell proliferation (GO:0008285)|negative regulation of granulocyte differentiation (GO:0030853)|positive regulation of cell proliferation (GO:0008284)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination (GO:0016567)|regulation of DNA damage checkpoint (GO:2000001)|regulation of nucleotide-excision repair (GO:2000819)|regulation of protein metabolic process (GO:0051246)|somatic stem cell maintenance (GO:0035019)|viral process (GO:0016032)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|Cul4A-RING E3 ubiquitin ligase complex (GO:0031464)				NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|large_intestine(5)|lung(5)|skin(1)	17	Lung NSC(43;0.0161)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0482)|all_epithelial(44;0.0148)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188)	all cancers(43;0.112)			AAATGGCCACGGGGATAGGTA	0.448																																						ENST00000451881.1																			0				NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|large_intestine(5)|lung(5)|skin(1)	17						c.(1549-1551)acG>acA		cullin 4A		G	,	1,4405	2.1+/-5.4	0,1,2202	95	92	93		1851,1551	-10.6	0.2	13		93	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	CUL4A	NM_001008895.1,NM_003589.2	,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,	617/760,517/660	113909105	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	8451				cell cycle arrest|DNA repair|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|ubiquitin-dependent protein catabolic process	Cul4A-RING ubiquitin ligase complex	ubiquitin protein ligase binding	g.chr13:113909105G>A	U58090	CCDS9533.1, CCDS41908.1, CCDS73604.1	13q34	2011-05-24			ENSG00000139842	ENSG00000139842			2554	protein-coding gene	gene with protein product		603137				8681378	Standard	NM_001008895		Approved		uc021rmv.1	Q13619	OTTHUMG00000017384	ENST00000375440.4:c.1851G>A	13.37:g.113909105G>A						CUL4A_ENST00000326335.4_Silent_p.T517T|CUL4A_ENST00000375440.4_Silent_p.T617T|CUL4A_ENST00000375441.3_Silent_p.T517T	p.T517T	NM_001278513.1|NM_003589.2	NP_001265442.1|NP_003580.1	Q13619	CUL4A_HUMAN	all cancers(43;0.112)		17	1800	+	Lung NSC(43;0.0161)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0482)|all_epithelial(44;0.0148)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188)	617					A2A2W2|O75834|Q589T6|Q5TC62|Q6UP08|Q9UP17	Silent	SNP	ENST00000375440.4	37	c.1551G>A	CCDS41908.1																																																																																				0.448	CUL4A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045888.3	NM_003589		27	55	0	0	0	1	0	27	55					A	113909105	G	A	113909105	2	1	380	1	0	0	0	0	0	0	0	1	4057	1103	39	2		2	CUL4A	13	113909105	Silent	SNP	G	TCGA-V1-A8X3-01A-11D-A377-08	25579072	113909105	1260773	25	18725											
ADCY4	196883	broad.mit.edu	37	chr14	24791404	24791404	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ctcagcttcttcttccacagGaagtccaggcggcagtagta	9	10	10	12	1	3	0	1	0	2	0	5	1	5	1	2	3	1	4	2	3	3	5			TCGA-V1-A8X3-01A-11D-A377-08	TCGA-V1-A8X3-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	59cd7fc8-c912-417b-9d55-f0b4918823bb	e25c2cff-eb3c-4e65-8ecd-4e2bf1395062	g.chr14:24791404G>A	ENST00000310677.4	-	21	2567	c.2454C>T	c.(2452-2454)ttC>ttT	p.F818F	ADCY4_ENST00000418030.2_Silent_p.F818F|ADCY4_ENST00000554068.2_Silent_p.F818F	NM_001198568.1|NM_001198592.1|NM_139247.3	NP_001185497.1|NP_001185521.1|NP_640340.2	Q8NFM4	ADCY4_HUMAN	adenylate cyclase 4	818					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cAMP biosynthetic process (GO:0006171)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(265;0.0192)		TCTTCCACAGGAAGTCCAGGC	0.617																																						ENST00000310677.4																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						c.(2452-2454)ttC>ttT		adenylate cyclase 4							92	85	88					14																	24791404		2203	4300	6503	SO:0001819	synonymous_variant	196883				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding|protein binding	g.chr14:24791404G>A	AF497516	CCDS9627.1	14q11.2	2013-02-04			ENSG00000129467	ENSG00000129467	4.6.1.1	"Adenylate cyclases"	235	protein-coding gene	gene with protein product		600292				7766992	Standard	NM_001198592		Approved	AC4	uc001woy.3	Q8NFM4	OTTHUMG00000029347	ENST00000310677.4:c.2454C>T	14.37:g.24791404G>A						ADCY4_ENST00000418030.2_Silent_p.F818F|ADCY4_ENST00000554068.2_Silent_p.F818F	p.F818F	NM_001198568.1|NM_001198592.1|NM_139247.3	NP_001185497.1|NP_001185521.1|NP_640340.2	Q8NFM4	ADCY4_HUMAN		GBM - Glioblastoma multiforme(265;0.0192)	21	2567	-			818					B3KV74|D3DS75|Q17R40|Q6ZTM6|Q96ML7	Silent	SNP	ENST00000310677.4	37	c.2454C>T	CCDS9627.1																																																																																				0.617	ADCY4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073200.4			6	107	0	0	0	1	0	6	107					A	24791404	G	A	24791404	2	1	380	1	0	0	0	0	0	0	0	1	296	1165	41	3		3	ADCY4	14	24791404	Silent	SNP	G	TCGA-V1-A8X3-01A-11D-A377-08		24791404	82558136	26	18726											
KIAA0391	9692	broad.mit.edu	37	chr14	35592719	35592719	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atttttttttagctggagcaGctaaggagagatcacagatg	12	13	11	5	0	1	2	1	0	0	2	1	5	1	4	0	2	3	3	0	2	2	6			TCGA-V1-A8X3-01A-11D-A377-08	TCGA-V1-A8X3-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	59cd7fc8-c912-417b-9d55-f0b4918823bb	e25c2cff-eb3c-4e65-8ecd-4e2bf1395062	g.chr14:35592719G>A	ENST00000557565.1	+	2	649	c.268G>A	c.(268-270)Gct>Act	p.A90T	PPP2R3C_ENST00000261475.5_5'Flank|KIAA0391_ENST00000603588.1_Intron|KIAA0391_ENST00000605870.1_Intron|KIAA0391_ENST00000603544.1_Missense_Mutation_p.A90T|KIAA0391_ENST00000604948.1_5'UTR|KIAA0391_ENST00000321130.10_Missense_Mutation_p.A90T|KIAA0391_ENST00000534898.4_Missense_Mutation_p.A90T|PPP2R3C_ENST00000555644.1_5'Flank|KIAA0391_ENST00000250377.7_5'UTR	NM_001282234.1	NP_001269163.1	O15091	MRRP3_HUMAN	KIAA0391	90					tRNA processing (GO:0008033)	mitochondrion (GO:0005739)				central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	14	Breast(36;0.0545)|Hepatocellular(127;0.158)|Prostate(35;0.184)		Lung(238;2.93e-05)|LUAD - Lung adenocarcinoma(48;3.86e-05)|Epithelial(34;0.0114)|all cancers(34;0.0277)	GBM - Glioblastoma multiforme(112;0.0593)		AGCTGGAGCAGCTAAGGAGAG	0.418																																						ENST00000557565.1																			0				central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	14						c.(268-270)Gct>Act		KIAA0391							48	47	47					14																	35592719		2203	4300	6503	SO:0001583	missense	9692				tRNA processing	mitochondrion		g.chr14:35592719G>A	AB002389	CCDS32063.1, CCDS58312.1, CCDS58313.1, CCDS58314.1	14q13.2	2013-06-18			ENSG00000100890	ENSG00000100890			19958	protein-coding gene	gene with protein product	"mitochondrial RNase P subunit 3", "proteinaceous RNase P"	609947				9205841, 18984158	Standard	NM_001256678		Approved	MRPP3, PRORP	uc001wsy.2	O15091		ENST00000557565.1:c.268G>A	14.37:g.35592719G>A	ENSP00000454657:p.Ala90Thr					KIAA0391_ENST00000534898.4_Missense_Mutation_p.A90T|KIAA0391_ENST00000603588.1_Intron|KIAA0391_ENST00000604948.1_5'UTR|KIAA0391_ENST00000603544.1_Missense_Mutation_p.A90T|KIAA0391_ENST00000321130.10_Missense_Mutation_p.A90T|KIAA0391_ENST00000250377.7_5'UTR|KIAA0391_ENST00000605870.1_Intron	p.A90T			O15091	MRRP3_HUMAN	Lung(238;2.93e-05)|LUAD - Lung adenocarcinoma(48;3.86e-05)|Epithelial(34;0.0114)|all cancers(34;0.0277)	GBM - Glioblastoma multiforme(112;0.0593)	2	649	+	Breast(36;0.0545)|Hepatocellular(127;0.158)|Prostate(35;0.184)		90					B4DXD9|B4E0S8|B4E211|C4AM93|D3DS99|D3DSA1|Q86SZ4|Q86YB5|Q8N5L5	Missense_Mutation	SNP	ENST00000557565.1	37	c.268G>A	CCDS32063.1	.	.	.	.	.	.	.	.	.	.	G	19.31	3.802188	0.70682	.	.	ENSG00000100890	ENST00000321130;ENST00000534898;ENST00000556121	T;T	0.50001	0.77;0.76	5.25	5.25	0.73442	.	0.000000	0.53938	D	0.000046	T	0.61489	0.2351	M	0.74881	2.28	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.68621	0.959;0.959	T	0.60141	-0.7321	10	0.07644	T	0.81	-11.8187	11.9091	0.52729	0.0:0.1299:0.7358:0.1342	.	90;90	O15091-2;O15091	.;MRRP3_HUMAN	T	90	ENSP00000324697:A90T;ENSP00000440915:A90T	ENSP00000324697:A90T	A	+	1	0	KIAA0391	34662470	0.999000	0.42202	0.953000	0.39169	0.885000	0.51271	3.170000	0.50816	2.438000	0.82558	0.563000	0.77884	GCT		0.418	KIAA0391-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	nonsense_mediated_decay	protein_coding	OTTHUMT00000411280.1	NM_014672		3	41	0	0	0	1	0	3	41					A	35592719	G	A	35592719	3	1	380	1	0	0	0	0	1	0	0	0	8172	971	34	3	270	3	KIAA0391	14	35592719	Missense_Mutation	SNP	G	TCGA-V1-A8X3-01A-11D-A377-08	10801315	35592719	71756821	27	18727											
SNRPN	6638	broad.mit.edu	37	chr15	25223426	25223426	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gagggacgccaataggcatgCcgcctccgggaatgagaccc	10	4	14	13	3	0	1	0	1	0	1	1	5	1	3	5	3	1	1	5	3	3	1			TCGA-V1-A8X3-01A-11D-A377-08	TCGA-V1-A8X3-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	59cd7fc8-c912-417b-9d55-f0b4918823bb	e25c2cff-eb3c-4e65-8ecd-4e2bf1395062	g.chr15:25223426C>T	ENST00000400100.1	+	12	1536	c.646C>T	c.(646-648)Ccg>Tcg	p.P216S	SNRPN_ENST00000577565.1_Missense_Mutation_p.P216S|SNURF_ENST00000551312.2_Intron|SNRPN_ENST00000444203.2_Missense_Mutation_p.P220S|SNURF_ENST00000338094.6_3'UTR|SNRPN_ENST00000346403.6_Missense_Mutation_p.P216S|SNRPN_ENST00000400098.1_Missense_Mutation_p.P216S|SNRPN_ENST00000390687.4_Missense_Mutation_p.P216S|SNRPN_ENST00000554227.2_Missense_Mutation_p.P220S|SNRPN_ENST00000400097.1_Missense_Mutation_p.P216S|SNHG14_ENST00000551631.2_RNA	NM_022807.2	NP_073718.1	P63162	RSMN_HUMAN	small nuclear ribonucleoprotein polypeptide N	216	Repeat-rich region.				response to hormone (GO:0009725)|RNA splicing (GO:0008380)	small nuclear ribonucleoprotein complex (GO:0030532)|spliceosomal complex (GO:0005681)|U1 snRNP (GO:0005685)|U2 snRNP (GO:0005686)	RNA binding (GO:0003723)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(14)|ovary(1)|skin(2)	24		all_cancers(20;9.33e-22)|Breast(32;0.000625)		all cancers(64;3.38e-08)|Epithelial(43;3.45e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000207)|GBM - Glioblastoma multiforme(186;0.125)		AATAGGCATGCCGCCTCCGGG	0.562									Prader-Willi syndrome																													ENST00000444203.2																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(14)|ovary(1)|skin(2)	24						c.(658-660)Ccg>Tcg		small nuclear ribonucleoprotein polypeptide N							123	121	122					15																	25223426		1899	4109	6008	SO:0001583	missense	6638	Prader-Willi syndrome	Familial Cancer Database	Prader-Labhart-Willi syndrome	RNA splicing	small nuclear ribonucleoprotein complex|spliceosomal complex	identical protein binding|RNA binding	g.chr15:25223426C>T	L80005	CCDS10017.1	15q11.2	2013-07-16			ENSG00000128739	ENSG00000128739			11164	protein-coding gene	gene with protein product	"tissue-specific splicing protein", "SM protein N", "small nuclear ribonucleoprotein N"	182279	"Prader-Willi syndrome chromosome region"	PWCR		1533223	Standard	NM_022805		Approved	SMN, SM-D, HCERN3, SNRNP-N, SNURF-SNRPN, RT-LI	uc001ywt.1	P63162	OTTHUMG00000129180	ENST00000400100.1:c.646C>T	15.37:g.25223426C>T	ENSP00000382972:p.Pro216Ser					SNRPN_ENST00000400098.1_Missense_Mutation_p.P216S|SNRPN_ENST00000346403.6_Missense_Mutation_p.P216S|SNRPN_ENST00000400097.1_Missense_Mutation_p.P216S|SNRPN_ENST00000577565.1_Missense_Mutation_p.P216S|SNRPN_ENST00000554227.2_Missense_Mutation_p.P220S|SNURF_ENST00000338094.6_3'UTR|SNRPN_ENST00000400100.1_Missense_Mutation_p.P216S|SNRPN_ENST00000390687.4_Missense_Mutation_p.P216S	p.P220S			P63162	RSMN_HUMAN		all cancers(64;3.38e-08)|Epithelial(43;3.45e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000207)|GBM - Glioblastoma multiforme(186;0.125)	7	1697	+		all_cancers(20;9.33e-22)|Breast(32;0.000625)	216			Repeat-rich region.		B3KVR1|P14648|P17135|Q0D2Q5	Missense_Mutation	SNP	ENST00000400100.1	37	c.658C>T	CCDS10017.1	.	.	.	.	.	.	.	.	.	.	C	15.01	2.707243	0.48412	.	.	ENSG00000128739;ENSG00000128739;ENSG00000128739;ENSG00000128739;ENSG00000128739;ENSG00000128739;ENSG00000214265	ENST00000400100;ENST00000400098;ENST00000400097;ENST00000554227;ENST00000390687;ENST00000444203;ENST00000346403	T;T;T;T;T;T	0.51325	0.71;0.71;0.71;0.71;0.71;0.71	3.83	2.92	0.33932	.	0.110578	0.64402	D	0.000006	T	0.46619	0.1402	M	0.75615	2.305	0.80722	D	1	B;B	0.19445	0.036;0.036	B;B	0.19391	0.025;0.025	T	0.52616	-0.8552	10	0.87932	D	0	-1.8552	9.577	0.39463	0.0:0.8941:0.0:0.1059	.	220;216	B3KVR1;P63162	.;RSMN_HUMAN	S	216;216;216;220;216;220;75	ENSP00000382972:P216S;ENSP00000382970:P216S;ENSP00000382969:P216S;ENSP00000452342:P220S;ENSP00000375105:P216S;ENSP00000408767:P220S	ENSP00000306223:P75S	P	+	1	0	SNRPN;SNURF	22774519	1.000000	0.71417	1.000000	0.80357	0.924000	0.55760	6.652000	0.74377	1.203000	0.43233	0.591000	0.81541	CCG		0.562	SNRPN-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413849.10	NM_003097		4	133	0	0	0	1	0	4	133					T	25223426	C	T	25223426	3	4	380	1	0	0	0	0	1	0	0	0	14870	739	26	3	668	3	SNRPN	15	25223426	Missense_Mutation	SNP	C	TCGA-V1-A8X3-01A-11D-A377-08		25223426	77307966	28	18728											
RYR3	6263	broad.mit.edu	37	chr15	34157424	34157424	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caatatgaagatcagcttggAtaaatctgaatcaaagaagc	18	9	8	6	0	3	4	2	2	1	2	3	5	3	5	0	1	2	1	0	1	8	3	rs370824147		TCGA-V1-A8X3-01A-11D-A377-08	TCGA-V1-A8X3-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	59cd7fc8-c912-417b-9d55-f0b4918823bb	e25c2cff-eb3c-4e65-8ecd-4e2bf1395062	g.chr15:34157424A>C	ENST00000389232.4	+	104	14680	c.14610A>C	c.(14608-14610)ggA>ggC	p.G4870G	AVEN_ENST00000558136.1_5'Flank|RYR3_ENST00000415757.3_Silent_p.G4865G|RP11-3D4.2_ENST00000560268.1_RNA	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	4870					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		ATCAGCTTGGATAAATCTGAA	0.393																																						ENST00000389232.4																			0				NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311						c.(14608-14610)ggA>ggC		ryanodine receptor 3							81	83	83					15																	34157424		2123	4268	6391	SO:0001819	synonymous_variant	6263				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr15:34157424A>C		CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"Ion channels / Ryanodine receptors", "EF-hand domain containing"	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.14610A>C	15.37:g.34157424A>C						RYR3_ENST00000415757.3_Silent_p.G4865G	p.G4870G	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)	104	14680	+		all_lung(180;7.18e-09)	4870					O15175|Q15412	Silent	SNP	ENST00000389232.4	37	c.14610A>C	CCDS45210.1																																																																																				0.393	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1			5	28	0	0	0	1	0	5	28					C	34157424	A	C	34157424	2	2	380	1	0	0	0	0	0	0	0	1	13770	320	12	5		5	RYR3	15	34157424	Silent	SNP	A	TCGA-V1-A8X3-01A-11D-A377-08	8933998	34157424	68373968	29	18729											
PYCR1	5831	broad.mit.edu	37	chr17	79892863	79892863	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaggtcctcttccacctccGtgcagaagcccacgctgctc	6	9	8	18	2	2	1	1	0	1	1	6	1	5	1	5	1	3	3	5	1	1	1	rs139869668		TCGA-V1-A8X3-01A-11D-A377-08	TCGA-V1-A8X3-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	59cd7fc8-c912-417b-9d55-f0b4918823bb	e25c2cff-eb3c-4e65-8ecd-4e2bf1395062	g.chr17:79892863G>A	ENST00000329875.8	-	4	543	c.479C>T	c.(478-480)aCg>aTg	p.T160M	PYCR1_ENST00000402252.2_Missense_Mutation_p.T187M|PYCR1_ENST00000337943.5_Missense_Mutation_p.T160M|PYCR1_ENST00000577756.1_Missense_Mutation_p.T160M|PYCR1_ENST00000403172.4_Missense_Mutation_p.T160M|RP11-498C9.13_ENST00000583521.1_RNA	NM_001282280.1|NM_001282281.1|NM_006907.2	NP_001269209.1|NP_001269210.1|NP_008838.2	P32322	P5CR1_HUMAN	pyrroline-5-carboxylate reductase 1	160					cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to oxidative stress (GO:0034599)|L-proline biosynthetic process (GO:0055129)|negative regulation of hydrogen peroxide-induced cell death (GO:1903206)|proline biosynthetic process (GO:0006561)|regulation of mitochondrial membrane potential (GO:0051881)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	identical protein binding (GO:0042802)|pyrroline-5-carboxylate reductase activity (GO:0004735)			endometrium(2)|kidney(1)|lung(1)|prostate(1)	5	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.0165)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)		L-Proline(DB00172)	TTCCACCTCCGTGCAGAAGCC	0.692																																						ENST00000337943.5																			0				endometrium(2)|kidney(1)|lung(1)|prostate(1)	5						c.(478-480)aCg>aTg		pyrroline-5-carboxylate reductase 1	L-Proline(DB00172)|NADH(DB00157)	G	MET/THR,MET/THR	1,4405	2.1+/-5.4	0,1,2202	51	43	45		479,479	4.1	1	17	dbSNP_134	45	0,8598		0,0,4299	no	missense,missense	PYCR1	NM_006907.2,NM_153824.1	81,81	0,1,6501	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging	160/320,160/317	79892863	1,13003	2203	4299	6502	SO:0001583	missense	5831				cellular response to oxidative stress|proline biosynthetic process	mitochondrial matrix	binding|pyrroline-5-carboxylate reductase activity	g.chr17:79892863G>A		CCDS11794.1, CCDS11795.1, CCDS62365.1, CCDS62366.1	17q25.3	2013-09-23			ENSG00000183010	ENSG00000183010	1.5.1.2		9721	protein-coding gene	gene with protein product		179035				1730675	Standard	XM_005256381		Approved	P5C	uc002kcr.1	P32322	OTTHUMG00000178436	ENST00000329875.8:c.479C>T	17.37:g.79892863G>A	ENSP00000328858:p.Thr160Met					PYCR1_ENST00000329875.8_Missense_Mutation_p.T160M|PYCR1_ENST00000402252.2_Missense_Mutation_p.T187M|PYCR1_ENST00000403172.4_Missense_Mutation_p.T160M|PYCR1_ENST00000577756.1_Missense_Mutation_p.T160M	p.T160M	NM_153824.1	NP_722546.1	P32322	P5CR1_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0165)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)		4	921	-	all_neural(118;0.0878)|Ovarian(332;0.12)		160					A6NFM2|B4DMU0|Q6FHI4|Q96DI6|Q9HBQ4	Missense_Mutation	SNP	ENST00000329875.8	37	c.479C>T	CCDS11795.1	.	.	.	.	.	.	.	.	.	.	G	17.62	3.434222	0.62955	2.27E-4	0.0	ENSG00000183010	ENST00000337943;ENST00000329875;ENST00000403172;ENST00000402252;ENST00000405481	T;T;T;T	0.63417	-0.04;-0.04;-0.04;-0.04	4.13	4.13	0.48395	NAD(P)-binding domain (1);	0.049975	0.85682	D	0.000000	T	0.60222	0.2252	N	0.11789	0.175	0.58432	D	0.999996	D;D;D;D;D;D;D	0.89917	0.997;0.996;0.996;1.0;0.996;0.985;0.996	P;P;P;P;P;P;P	0.60286	0.749;0.579;0.579;0.872;0.579;0.46;0.675	T	0.65861	-0.6065	10	0.44086	T	0.13	.	16.0278	0.80555	0.0:0.0:1.0:0.0	.	132;187;160;160;160;160;160	B7Z8T1;B4DMU0;E7D7X9;Q9HBQ4;P32322;E7D7Y0;A6NFM2	.;.;.;.;P5CR1_HUMAN;.;.	M	160;160;160;187;132	ENSP00000336579:T160M;ENSP00000328858:T160M;ENSP00000385483:T160M;ENSP00000384949:T187M	ENSP00000328858:T160M	T	-	2	0	PYCR1	77486154	1.000000	0.71417	0.952000	0.39060	0.919000	0.55068	7.782000	0.85680	1.866000	0.54105	0.555000	0.69702	ACG		0.692	PYCR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441953.1			10	26	0	0	0	1	0	10	26					A	79892863	G	A	79892863	3	1	380	1	0	0	0	0	1	0	0	0	12855	1145	40	1	584	1	PYCR1	17	79892863	Missense_Mutation	SNP	G	TCGA-V1-A8X3-01A-11D-A377-08		79892863	1302347	30	18730											
CDH7	1005	broad.mit.edu	37	chr18	63481745	63481745	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctcagtggtacaagtgacagCgacggatgctgatgatccta	11	9	12	9	2	1	3	1	3	0	0	2	5	2	4	1	2	3	2	1	2	3	2			TCGA-V1-A8X3-01A-11D-A377-08	TCGA-V1-A8X3-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	59cd7fc8-c912-417b-9d55-f0b4918823bb	e25c2cff-eb3c-4e65-8ecd-4e2bf1395062	g.chr18:63481745C>T	ENST00000397968.2	+	4	956	c.530C>T	c.(529-531)gCg>gTg	p.A177V	CDH7_ENST00000536984.2_Missense_Mutation_p.A177V|CDH7_ENST00000323011.3_Missense_Mutation_p.A177V	NM_004361.2	NP_004352.2	Q9ULB5	CADH7_HUMAN	cadherin 7, type 2	177	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	80		Esophageal squamous(42;0.129)				CAAGTGACAGCGACGGATGCT	0.438																																						ENST00000536984.2																			0				NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	80						c.(529-531)gCg>gTg		cadherin 7, type 2							187	174	179					18																	63481745		2203	4300	6503	SO:0001583	missense	1005				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr18:63481745C>T	AB035301	CCDS11993.1	18q22.1	2010-01-26			ENSG00000081138	ENSG00000081138		"Cadherins / Major cadherins"	1766	protein-coding gene	gene with protein product		605806				9615235	Standard	NM_033646		Approved		uc002ljz.3	Q9ULB5	OTTHUMG00000132800	ENST00000397968.2:c.530C>T	18.37:g.63481745C>T	ENSP00000381058:p.Ala177Val					CDH7_ENST00000397968.2_Missense_Mutation_p.A177V|CDH7_ENST00000323011.3_Missense_Mutation_p.A177V	p.A177V			Q9ULB5	CADH7_HUMAN			4	1224	+		Esophageal squamous(42;0.129)	177			Cadherin 2.		Q9H157	Missense_Mutation	SNP	ENST00000397968.2	37	c.530C>T	CCDS11993.1	.	.	.	.	.	.	.	.	.	.	C	35	5.423577	0.96111	.	.	ENSG00000081138	ENST00000323011;ENST00000536984;ENST00000397966;ENST00000397968	T;T;T	0.59364	0.27;0.27;0.27	5.45	5.45	0.79879	Cadherin (5);Cadherin-like (1);	0.000000	0.64402	D	0.000002	T	0.81230	0.4779	M	0.88775	2.98	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	D	0.84301	0.0505	10	0.87932	D	0	.	19.6512	0.95812	0.0:1.0:0.0:0.0	.	177;177	F5H5X9;Q9ULB5	.;CADH7_HUMAN	V	177	ENSP00000319166:A177V;ENSP00000443030:A177V;ENSP00000381058:A177V	ENSP00000319166:A177V	A	+	2	0	CDH7	61632725	1.000000	0.71417	0.963000	0.40424	0.904000	0.53231	7.330000	0.79181	2.712000	0.92718	0.591000	0.81541	GCG		0.438	CDH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256217.2	NM_033646		4	108	0	0	0	1	0	4	108					T	63481745	C	T	63481745	3	4	380	1	0	0	0	0	1	0	0	0	3115	768	27	1	540	1	CDH7	18	63481745	Missense_Mutation	SNP	C	TCGA-V1-A8X3-01A-11D-A377-08		63481745	14595503	31	18731											
FEM1A	55527	broad.mit.edu	37	chr19	4793551	4793551	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggcagattcccctccctgcAcgtggtcaaagtgctgctcg	6	9	12	14	2	1	1	1	0	0	1	4	1	3	1	3	2	3	4	3	2	1	1			TCGA-V1-A8X3-01A-11D-A377-08	TCGA-V1-A8X3-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	59cd7fc8-c912-417b-9d55-f0b4918823bb	e25c2cff-eb3c-4e65-8ecd-4e2bf1395062	g.chr19:4793551A>G	ENST00000269856.3	+	1	1824	c.1685A>G	c.(1684-1686)cAc>cGc	p.H562R	AC005523.3_ENST00000598782.1_lincRNA|AC005523.2_ENST00000596170.1_RNA|AC005523.2_ENST00000601192.1_RNA	NM_018708.2	NP_061178.1	Q9BSK4	FEM1A_HUMAN	fem-1 homolog a (C. elegans)	562					negative regulation of inflammatory response (GO:0050728)|regulation of ubiquitin-protein transferase activity (GO:0051438)	cytoplasm (GO:0005737)	EP4 subtype prostaglandin E2 receptor binding (GO:0031867)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	17		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0139)		CCCTCCCTGCACGTGGTCAAA	0.632																																						ENST00000269856.3																			0				breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	17						c.(1684-1686)cAc>cGc		fem-1 homolog a (C. elegans)							60	59	59					19																	4793551		2203	4300	6503	SO:0001583	missense	55527				regulation of ubiquitin-protein ligase activity	cytoplasm	binding|ubiquitin-protein ligase activity	g.chr19:4793551A>G	BC004988	CCDS12135.1	19p13.3	2013-01-10	2006-11-08		ENSG00000141965	ENSG00000141965		"Ankyrin repeat domain containing"	16934	protein-coding gene	gene with protein product		613538				11441184	Standard	NM_018708		Approved		uc002mbf.3	Q9BSK4		ENST00000269856.3:c.1685A>G	19.37:g.4793551A>G	ENSP00000269856:p.His562Arg					AC005523.2_ENST00000601192.1_RNA	p.H562R	NM_018708.2	NP_061178.1	Q9BSK4	FEM1A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0139)	1	1824	+		Hepatocellular(1079;0.137)	562					B2RDI3|Q711P8|Q9NPN7|Q9NPW8	Missense_Mutation	SNP	ENST00000269856.3	37	c.1685A>G	CCDS12135.1	.	.	.	.	.	.	.	.	.	.	A	4.584	0.108499	0.08780	.	.	ENSG00000141965	ENST00000269856	T	0.70045	-0.45	5.02	2.79	0.32731	Ankyrin repeat-containing domain (4);	0.445972	0.21659	U	0.071046	T	0.44414	0.1292	N	0.05351	-0.065	0.27378	N	0.955486	B	0.02656	0.0	B	0.08055	0.003	T	0.27262	-1.0079	10	0.34782	T	0.22	-4.7827	11.4452	0.50118	0.7129:0.2871:0.0:0.0	.	562	Q9BSK4	FEM1A_HUMAN	R	562	ENSP00000269856:H562R	ENSP00000269856:H562R	H	+	2	0	FEM1A	4744551	0.982000	0.34865	0.621000	0.29145	0.900000	0.52787	2.958000	0.49145	0.200000	0.20447	0.459000	0.35465	CAC		0.632	FEM1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459000.1			8	36	0	0	0	1	0	8	36					G	4793551	A	G	4793551	3	3	380	1	0	0	0	0	1	0	0	0	5809	159	6	4	1687	4	FEM1A	19	4793551	Missense_Mutation	SNP	A	TCGA-V1-A8X3-01A-11D-A377-08		4793551	54335432	32	18732											
DNMT3B	1789	broad.mit.edu	37	chr20	31379479	31379479	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggccaccttcaataagctcGtctcctatcgaaaagccatg	11	10	7	13	2	2	0	1	0	1	0	5	1	2	0	4	1	2	1	4	1	5	3	rs145632647	byFrequency	TCGA-V1-A8X3-01A-11D-A377-08	TCGA-V1-A8X3-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	59cd7fc8-c912-417b-9d55-f0b4918823bb	e25c2cff-eb3c-4e65-8ecd-4e2bf1395062	g.chr20:31379479G>A	ENST00000328111.2	+	8	1207	c.886G>A	c.(886-888)Gtc>Atc	p.V296I	DNMT3B_ENST00000443239.3_Missense_Mutation_p.V254I|DNMT3B_ENST00000348286.2_Missense_Mutation_p.V296I|DNMT3B_ENST00000375623.4_Missense_Mutation_p.V254I|DNMT3B_ENST00000344505.4_Missense_Mutation_p.V296I|DNMT3B_ENST00000201963.3_Missense_Mutation_p.V308I|DNMT3B_ENST00000353855.2_Missense_Mutation_p.V296I|DNMT3B_ENST00000456297.2_Missense_Mutation_p.V220I	NM_006892.3	NP_008823.1	Q9UBC3	DNM3B_HUMAN	DNA (cytosine-5-)-methyltransferase 3 beta	296	Interaction with DNMT1 and DNMT3A.				C-5 methylation of cytosine (GO:0090116)|cellular response to amino acid stimulus (GO:0071230)|DNA methylation (GO:0006306)|DNA methylation involved in embryo development (GO:0043045)|DNA methylation on cytosine within a CG sequence (GO:0010424)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of gene expression (GO:0010628)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of neuron differentiation (GO:0045666)|protein complex localization (GO:0031503)|regulation of gene expression by genetic imprinting (GO:0006349)|response to drug (GO:0042493)|response to ionizing radiation (GO:0010212)|S-adenosylhomocysteine metabolic process (GO:0046498)|S-adenosylmethioninamine metabolic process (GO:0046499)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear heterochromatin (GO:0005720)|nucleus (GO:0005634)	DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA (cytosine-5-)-methyltransferase activity, acting on CpG substrates (GO:0051718)|DNA-methyltransferase activity (GO:0009008)|metal ion binding (GO:0046872)|transcription corepressor activity (GO:0003714)|unmethylated CpG binding (GO:0045322)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(16)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						CAATAAGCTCGTCTCCTATCG	0.498													G|||	3	0.000599042	0.0023	0	5008	,	,		21625	0		0	False		,,,				2504	0					ENST00000328111.2																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(16)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						c.(886-888)Gtc>Atc		DNA (cytosine-5-)-methyltransferase 3 beta		G	ILE/VAL,ILE/VAL,ILE/VAL,ILE/VAL,ILE/VAL,ILE/VAL	6,4400	11.4+/-27.6	0,6,2197	152	115	128		760,658,886,886,886,922	4.9	1	20	dbSNP_134	128	4,8596	3.7+/-12.6	0,4,4296	yes	missense,missense,missense,missense,missense,missense	DNMT3B	NM_001207055.1,NM_001207056.1,NM_006892.3,NM_175848.1,NM_175849.1,NM_175850.2	29,29,29,29,29,29	0,10,6493	AA,AG,GG		0.0465,0.1362,0.0769	benign,benign,benign,benign,benign,benign	254/729,220/695,296/854,296/834,296/771,308/846	31379479	10,12996	2203	4300	6503	SO:0001583	missense	1789				negative regulation of histone H3-K9 methylation|positive regulation of gene expression|positive regulation of histone H3-K4 methylation		metal ion binding|protein binding|transcription corepressor activity	g.chr20:31379479G>A		CCDS13204.1, CCDS13205.1, CCDS13206.1, CCDS13207.1, CCDS56183.1, CCDS56184.1	20q11.2	2014-09-17			ENSG00000088305	ENSG00000088305			2979	protein-coding gene	gene with protein product		602900				9662389, 10433969	Standard	NM_006892		Approved		uc002wyc.3	Q9UBC3	OTTHUMG00000032226	ENST00000328111.2:c.886G>A	20.37:g.31379479G>A	ENSP00000328547:p.Val296Ile					DNMT3B_ENST00000201963.3_Missense_Mutation_p.V308I|DNMT3B_ENST00000456297.2_Missense_Mutation_p.V220I|DNMT3B_ENST00000344505.4_Missense_Mutation_p.V296I|DNMT3B_ENST00000348286.2_Missense_Mutation_p.V296I|DNMT3B_ENST00000353855.2_Missense_Mutation_p.V296I|DNMT3B_ENST00000443239.3_Missense_Mutation_p.V254I|DNMT3B_ENST00000375623.4_Missense_Mutation_p.V254I	p.V296I	NM_006892.3	NP_008823.1	Q9UBC3	DNM3B_HUMAN			8	1207	+			296			Interaction with DNMT1 and DNMT3A.		A2A2E2|B4DSM8|B4DSU1|E1P5M6|E1P5M7|E7EN63|E9PBF2|Q9UBD4|Q9UJQ5|Q9UKA6|Q9UNE5|Q9Y5R9|Q9Y5S0	Missense_Mutation	SNP	ENST00000328111.2	37	c.886G>A	CCDS13205.1	.	.	.	.	.	.	.	.	.	.	G	14.13	2.442671	0.43326	0.001362	4.65E-4	ENSG00000088305	ENST00000328111;ENST00000537219;ENST00000353855;ENST00000348286;ENST00000443239;ENST00000456297;ENST00000344505;ENST00000375623;ENST00000201963	T;T;T;T;T;T;T;T	0.70045	-0.45;-0.45;-0.45;-0.45;-0.45;-0.45;-0.45;-0.45	5.85	4.87	0.63330	.	0.117745	0.56097	D	0.000021	T	0.58438	0.2122	L	0.51422	1.61	0.38983	D	0.958994	B;B;B;B;B;D	0.53885	0.052;0.085;0.252;0.086;0.252;0.963	B;B;B;B;B;B	0.39094	0.01;0.028;0.037;0.039;0.037;0.29	T	0.63541	-0.6614	10	0.35671	T	0.21	-31.6817	14.6059	0.68478	0.0:0.2718:0.7282:0.0	.	220;254;308;296;296;296	E9PBF2;E7EN63;Q9UBC3-6;Q9UBC3-3;Q9UBC3-2;Q9UBC3	.;.;.;.;.;DNM3B_HUMAN	I	296;382;296;296;254;220;296;254;308	ENSP00000328547:V296I;ENSP00000313397:V296I;ENSP00000337764:V296I;ENSP00000403169:V254I;ENSP00000412305:V220I;ENSP00000345105:V296I;ENSP00000364774:V254I;ENSP00000201963:V308I	ENSP00000201963:V308I	V	+	1	0	DNMT3B	30843140	1.000000	0.71417	1.000000	0.80357	0.794000	0.44872	2.958000	0.49145	2.773000	0.95371	0.655000	0.94253	GTC		0.498	DNMT3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078643.2	NM_006892		6	38	0	0	0	1	0	6	38					A	31379479	G	A	31379479	3	1	380	1	0	0	0	0	1	0	0	0	4677	1145	40	1	952	1	DNMT3B	20	31379479	Missense_Mutation	SNP	G	TCGA-V1-A8X3-01A-11D-A377-08		31379479	31646041	33	18733											
C20orf186	149954	broad.mit.edu	37	chr20	31673924	31673924	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atcctcggctggtcattgagCgatgtgacaccctcctaggg	7	10	12	12	2	1	2	1	2	0	0	4	3	3	2	3	3	1	1	3	3	1	2	rs377208700		TCGA-V1-A8X3-01A-11D-A377-08	TCGA-V1-A8X3-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	59cd7fc8-c912-417b-9d55-f0b4918823bb	e25c2cff-eb3c-4e65-8ecd-4e2bf1395062	g.chr20:31673924C>T	ENST00000375483.3	+	5	880	c.880C>T	c.(880-882)Cga>Tga	p.R294*		NM_182519.2	NP_872325.2	P59827	BPIB4_HUMAN	BPI fold containing family B, member 4	294						cytoplasm (GO:0005737)|extracellular region (GO:0005576)	lipid binding (GO:0008289)										GGTCATTGAGCGATGTGACAC	0.572													C|||	1	0.000199681	0	0	5008	,	,		21572	0		0.001	False		,,,				2504	0					ENST00000375483.3																			0											c.(880-882)Cga>Tga		BPI fold containing family B, member 4							97	81	86					20																	31673924		2203	4300	6503	SO:0001587	stop_gained	149954					cytoplasm|extracellular region	lipid binding	g.chr20:31673924C>T	AF549190	CCDS13213.2	20q11.21	2011-08-04	2011-07-29	2011-07-29	ENSG00000186191	ENSG00000186191		"BPI fold containing"	16179	protein-coding gene	gene with protein product		615718	"chromosome 20 open reading frame 186"	C20orf186		11971875, 21787333	Standard	NM_182519		Approved	dJ726C3.5, LPLUNC4	uc010zue.2	P59827	OTTHUMG00000032235	ENST00000375483.3:c.880C>T	20.37:g.31673924C>T	ENSP00000364632:p.Arg294*						p.R294*	NM_182519.2	NP_872325.2	P59827	LPLC4_HUMAN			5	880	+			294					Q5TDX6	Nonsense_Mutation	SNP	ENST00000375483.3	37	c.880C>T	CCDS13213.2	.	.	.	.	.	.	.	.	.	.	C	27.3	4.821236	0.90873	.	.	ENSG00000186191	ENST00000375483	.	.	.	3.94	-1.41	0.08941	.	0.542388	0.16734	N	0.201733	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-9.6924	10.4766	0.44667	0.7144:0.2856:0.0:0.0	.	.	.	.	X	294	.	ENSP00000364632:R294X	R	+	1	2	BPIFB4	31137585	0.716000	0.27956	0.588000	0.28705	0.992000	0.81027	0.276000	0.18716	-0.030000	0.13804	0.491000	0.48974	CGA		0.572	BPIFB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078655.5	NM_182519		23	57	0	0	0	1	0	23	57					T	31673924	C	T	31673924	4	4	380	1	0	0	0	0	0	1	0	0	2098	760	27	1	898	1	C20orf186	20	31673924	Nonsense_Mutation	SNP	C	TCGA-V1-A8X3-01A-11D-A377-08	294445	31673924	31351596	34	18734											
MXRA5	25878	broad.mit.edu	37	chrX	3240659	3240659	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgggacacctggttcccctaTagtagaatcctcaaataact	12	11	7	11	0	1	1	1	0	0	1	3	2	3	2	4	2	1	2	4	2	6	5	rs373344927		TCGA-V1-A8X3-01A-11D-A377-08	TCGA-V1-A8X3-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	59cd7fc8-c912-417b-9d55-f0b4918823bb	e25c2cff-eb3c-4e65-8ecd-4e2bf1395062	g.chrX:3240659T>C	ENST00000217939.6	-	5	3221	c.3067A>G	c.(3067-3069)Ata>Gta	p.I1023V		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	1023						extracellular vesicular exosome (GO:0070062)				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				GGTTCCCCTATAGTAGAATCC	0.448																																						ENST00000217939.6																			0				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157						c.(3067-3069)Ata>Gta		matrix-remodelling associated 5							169	147	155					X																	3240659		2203	4300	6503	SO:0001583	missense	25878					extracellular region		g.chrX:3240659T>C	AF245505	CCDS14124.1	Xp22.33	2013-01-29			ENSG00000101825	ENSG00000101825		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	7539	protein-coding gene	gene with protein product	"adlican"					12101425	Standard	NM_015419		Approved	DKFZp564I1922	uc004crg.4	Q9NR99	OTTHUMG00000021083	ENST00000217939.6:c.3067A>G	X.37:g.3240659T>C	ENSP00000217939:p.Ile1023Val						p.I1023V	NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN			5	3221	-		all_lung(23;0.00031)|Lung NSC(23;0.000946)	1023					Q6P1M7|Q9Y3Y8	Missense_Mutation	SNP	ENST00000217939.6	37	c.3067A>G	CCDS14124.1	.	.	.	.	.	.	.	.	.	.	t	0.012	-1.653701	0.00779	.	.	ENSG00000101825	ENST00000381114;ENST00000217939	T	0.60171	0.21	2.83	-5.66	0.02451	.	2.723000	0.02096	N	0.053499	T	0.25531	0.0621	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.37572	-0.9700	10	0.02654	T	1	.	0.303	0.00276	0.3226:0.1297:0.2479:0.2998	.	1023	Q9NR99	MXRA5_HUMAN	V	1023	ENSP00000217939:I1023V	ENSP00000217939:I1023V	I	-	1	0	MXRA5	3250659	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.591000	0.05753	-1.806000	0.01237	-1.653000	0.00756	ATA		0.448	MXRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055655.2	NM_015419		45	26	0	0	0	1	0	45	26					C	3240659	T	C	3240659	3	2	380	1	0	0	0	0	1	0	0	0	10003	1406	49	4	5431	4	MXRA5	23	3240659	Missense_Mutation	SNP	T	TCGA-V1-A8X3-01A-11D-A377-08		3240659	152029901	35	18735											
FRMPD4	9758	broad.mit.edu	37	chrX	12736537	12736537	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtgactaccacttggccaagCggatgtcatcactgcaaagc	11	8	10	12	1	2	1	2	1	0	0	2	2	2	2	2	2	4	1	2	2	3	2			TCGA-V1-A8X3-01A-11D-A377-08	TCGA-V1-A8X3-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	59cd7fc8-c912-417b-9d55-f0b4918823bb	e25c2cff-eb3c-4e65-8ecd-4e2bf1395062	g.chrX:12736537C>A	ENST00000380682.1	+	16	4098	c.3592C>A	c.(3592-3594)Cgg>Agg	p.R1198R		NM_014728.3	NP_055543.2	Q14CM0	FRPD4_HUMAN	FERM and PDZ domain containing 4	1198					positive regulation of synapse structural plasticity (GO:0051835)	cytoskeleton (GO:0005856)|dendritic spine (GO:0043197)	phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						CTTGGCCAAGCGGATGTCATC	0.582																																						ENST00000380682.1																			0				breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						c.(3592-3594)Cgg>Agg		FERM and PDZ domain containing 4							128	118	121					X																	12736537		2203	4300	6503	SO:0001819	synonymous_variant	9758				positive regulation of synapse structural plasticity	cytoskeleton|dendritic spine	phosphatidylinositol-4,5-bisphosphate binding|protein binding	g.chrX:12736537C>A	AB002314	CCDS35201.1	Xp22.31	2006-02-09	2006-02-09	2006-02-09	ENSG00000169933	ENSG00000169933			29007	protein-coding gene	gene with protein product		300838	"PDZ domain containing 10"	PDZK10, PDZD10		9205841	Standard	NM_014728		Approved	KIAA0316	uc004cuz.2	Q14CM0	OTTHUMG00000021138	ENST00000380682.1:c.3592C>A	X.37:g.12736537C>A							p.R1198R	NM_014728.3	NP_055543.2	Q14CM0	FRPD4_HUMAN			16	4098	+			1198					A8K0X9|O15032	Silent	SNP	ENST00000380682.1	37	c.3592C>A	CCDS35201.1																																																																																				0.582	FRMPD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055771.1	XM_045712		6	97	1	0	0.00307968	1	0.00307968	6	97					A	12736537	C	A	12736537	2	1	380	1	0	0	0	0	0	0	0	1	6059	759	27	5		5	FRMPD4	23	12736537	Silent	SNP	C	TCGA-V1-A8X3-01A-11D-A377-08	9495878	12736537	142534023	36	18736											
MAOA	4128	broad.mit.edu	37	chrX	43590980	43590980	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgatccctccgaccttgactGccaagattcacttcagacca	10	9	6	16	2	2	3	2	1	0	2	4	5	4	3	5	0	1	0	5	0	1	3			TCGA-V1-A8X3-01A-11D-A377-08	TCGA-V1-A8X3-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	59cd7fc8-c912-417b-9d55-f0b4918823bb	e25c2cff-eb3c-4e65-8ecd-4e2bf1395062	g.chrX:43590980G>A	ENST00000338702.3	+	8	958	c.835G>A	c.(835-837)Gcc>Acc	p.A279T	MAOA_ENST00000542639.1_Missense_Mutation_p.A146T	NM_000240.3	NP_000231.1	P21397	AOFA_HUMAN	monoamine oxidase A	279					cellular biogenic amine metabolic process (GO:0006576)|dopamine catabolic process (GO:0042420)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter catabolic process (GO:0042135)|neurotransmitter secretion (GO:0007269)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|xenobiotic metabolic process (GO:0006805)	integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	primary amine oxidase activity (GO:0008131)			NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	18					Almotriptan(DB00918)|Dopamine(DB00988)|Ephedra(DB01363)|Flavin adenine dinucleotide(DB03147)|Furazolidone(DB00614)|Isocarboxazid(DB01247)|Linezolid(DB00601)|Methamphetamine(DB01577)|Minaprine(DB00805)|Moclobemide(DB01171)|Nandrolone decanoate(DB08804)|Naratriptan(DB00952)|Nicotine(DB00184)|Pargyline(DB01626)|Phenelzine(DB00780)|Phentermine(DB00191)|Phenylephrine(DB00388)|Phenylpropanolamine(DB00397)|Procaine(DB00721)|Pseudoephedrine(DB00852)|Riboflavin(DB00140)|Rizatriptan(DB00953)|Selegiline(DB01037)|Sertraline(DB01104)|Sumatriptan(DB00669)|Testosterone(DB00624)|Tranylcypromine(DB00752)|Zolmitriptan(DB00315)|Zonisamide(DB00909)	GACCTTGACTGCCAAGATTCA	0.443																																						ENST00000338702.3																			0				NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	18						c.(835-837)Gcc>Acc		monoamine oxidase A	Almotriptan(DB00918)|Carbidopa(DB00190)|Clonazepam(DB01068)|Dopamine(DB00988)|Fluvoxamine(DB00176)|Ginkgo biloba(DB01381)|Imipramine(DB00458)|Isocarboxazid(DB01247)|Levodopa(DB01235)|Linezolid(DB00601)|Lorazepam(DB00186)|Moclobemide(DB01171)|Nicotine(DB00184)|Norepinephrine(DB00368)|Phenelzine(DB00780)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Phenylephrine(DB00388)|Phenylpropanolamine(DB00397)|Pseudoephedrine(DB00852)|Rasagiline(DB01367)|Riboflavin(DB00140)|Rizatriptan(DB00953)|Selegiline(DB01037)|Sumatriptan(DB00669)|Testosterone(DB00624)|Tranylcypromine(DB00752)|Zolmitriptan(DB00315)						127	101	110					X																	43590980		2203	4300	6503	SO:0001583	missense	4128				behavior|neurotransmitter biosynthetic process|neurotransmitter catabolic process|neurotransmitter secretion|xenobiotic metabolic process	integral to membrane|mitochondrial outer membrane	primary amine oxidase activity|protein binding	g.chrX:43590980G>A		CCDS14260.1, CCDS59163.1	Xp11.4-p11.3	2008-02-05			ENSG00000189221	ENSG00000189221	1.4.3.4		6833	protein-coding gene	gene with protein product		309850					Standard	NM_000240		Approved		uc004dfy.4	P21397	OTTHUMG00000021387	ENST00000338702.3:c.835G>A	X.37:g.43590980G>A	ENSP00000340684:p.Ala279Thr					MAOA_ENST00000542639.1_Missense_Mutation_p.A146T	p.A279T	NM_000240.3	NP_000231.1	P21397	AOFA_HUMAN			8	958	+			279					B4DF46|Q16426	Missense_Mutation	SNP	ENST00000338702.3	37	c.835G>A	CCDS14260.1	.	.	.	.	.	.	.	.	.	.	G	1.800	-0.477359	0.04414	.	.	ENSG00000189221	ENST00000338702;ENST00000542639	D;D	0.92858	-3.12;-3.12	5.8	1.58	0.23477	Amine oxidase (1);	0.848527	0.11044	N	0.605760	T	0.77785	0.4182	N	0.08118	0	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.63093	-0.6714	10	0.07813	T	0.8	.	3.768	0.08630	0.3589:0.0:0.3507:0.2904	.	279	P21397	AOFA_HUMAN	T	279;146	ENSP00000340684:A279T;ENSP00000440846:A146T	ENSP00000340684:A279T	A	+	1	0	MAOA	43475924	0.369000	0.25039	0.218000	0.23776	0.129000	0.20672	0.927000	0.28818	0.219000	0.20840	0.538000	0.68166	GCC		0.443	MAOA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056300.1	NM_000240		17	30	0	0	0	1	0	17	30					A	43590980	G	A	43590980	3	1	380	1	0	0	0	0	1	0	0	0	9225	1319	46	3	865	3	MAOA	23	43590980	Missense_Mutation	SNP	G	TCGA-V1-A8X3-01A-11D-A377-08	30854443	43590980	111679580	37	18737											
RERE	473	broad.mit.edu	37	chr1	8482823	8482825	+	In_Frame_Del	DEL	GAA	GAA	-																															agcagctcctttctaattctGaagaagttcttcccgtactg																										TCGA-V1-A9O5-01A-11D-A41K-08	TCGA-V1-A9O5-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b3d6c97-dfa9-4531-b8b6-7d195c52e25b	478f8c5f-260a-4d8a-a4f2-a07a8931f6a1	g.chr1:8482823_8482825delGAA	ENST00000337907.3	-	13	1880_1882	c.1246_1248delTTC	c.(1246-1248)ttcdel	p.F416del	RERE_ENST00000476556.1_5'UTR|RP5-1115A15.1_ENST00000444276.1_RNA|RP5-1115A15.1_ENST00000449895.1_RNA|RERE_ENST00000400908.2_In_Frame_Del_p.F416del|RERE_ENST00000400907.2_In_Frame_Del_p.F416del|RERE_ENST00000460659.1_5'UTR|RERE_ENST00000377464.1_In_Frame_Del_p.F148del	NM_012102.3	NP_036234.3	Q9P2R6	RERE_HUMAN	arginine-glutamic acid dipeptide (RE) repeats	416	SANT. {ECO:0000255|PROSITE- ProRule:PRU00624}.				chromatin remodeling (GO:0006338)|multicellular organismal development (GO:0007275)|NLS-bearing protein import into nucleus (GO:0006607)|transcription, DNA-templated (GO:0006351)	histone deacetylase complex (GO:0000118)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|poly-glutamine tract binding (GO:0008267)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)		TTCTAATTCTGAAGAAGTTCTTC	0.399																																						ENST00000337907.3																			0				central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						c.(1246-1248)del		arginine-glutamic acid dipeptide (RE) repeats																																				SO:0001651	inframe_deletion	473				multicellular organismal development|NLS-bearing substrate import into nucleus	mitochondrion	poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr1:8482823_8482825delGAA	AF016005	CCDS95.1, CCDS41243.1	1p36.23	2013-01-25			ENSG00000142599	ENSG00000142599		"GATA zinc finger domain containing"	9965	protein-coding gene	gene with protein product		605226		ATN1L		10814707, 10729226	Standard	NM_012102		Approved	KIAA0458, ARP, ARG, DNB1	uc001apf.3	Q9P2R6	OTTHUMG00000001765	ENST00000337907.3:c.1246_1248delTTC	1.37:g.8482826_8482828delGAA	ENSP00000338629:p.Phe416del					RERE_ENST00000460659.1_5'UTR|RERE_ENST00000400907.2_In_Frame_Del_p.F416del|RERE_ENST00000377464.1_In_Frame_Del_p.F148del|RERE_ENST00000476556.1_5'UTR|RERE_ENST00000400908.2_In_Frame_Del_p.F416del	p.F416del	NM_012102.3	NP_036234.3	Q9P2R6	RERE_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)	13	1880_1882	-	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)	416			SANT.		O43393|O75046|O75359|Q5VXL9|Q6P6B9|Q9Y2W4	In_Frame_Del	DEL	ENST00000337907.3	37	c.1246_1248delTTC	CCDS95.1																																																																																				0.399	RERE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004916.1			17	73						17	73	---	---	---	---	-	8482825	GAA	-	8482823	7	5	381	1	0	1	0	1	0	0	0	0	13231	1281	45	0	3500	0	RERE	1	8482823	In_Frame_Del	DEL	GAA	TCGA-V1-A9O5-01A-11D-A41K-08		8482823	240767798	1	18738											
ARHGEF19	128272	broad.mit.edu	37	chr1	16532162	16532162	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gggaacctggggttctccagGctggaaaatggggaggactc	9	7	17	8	0	1	0	0	0	1	0	3	4	1	4	2	8	1	2	2	8	3	1			TCGA-V1-A9O5-01A-11D-A41K-08	TCGA-V1-A9O5-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b3d6c97-dfa9-4531-b8b6-7d195c52e25b	478f8c5f-260a-4d8a-a4f2-a07a8931f6a1	g.chr1:16532162G>A	ENST00000270747.3	-	9	1588	c.1452C>T	c.(1450-1452)ctC>ctT	p.L484L	ARHGEF19_ENST00000478117.1_5'UTR	NM_153213.3	NP_694945.2	Q8IW93	ARHGJ_HUMAN	Rho guanine nucleotide exchange factor (GEF) 19	484	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				regulation of actin cytoskeleton organization (GO:0032956)|wound healing (GO:0042060)		GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			cervix(1)|endometrium(1)|lung(3)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	12		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|Colorectal(212;3.48e-07)|COAD - Colon adenocarcinoma(227;2.19e-05)|BRCA - Breast invasive adenocarcinoma(304;9.46e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.0117)|READ - Rectum adenocarcinoma(331;0.0649)		GGTTCTCCAGGCTGGAAAATG	0.602																																						ENST00000270747.3																			0				cervix(1)|endometrium(1)|lung(3)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	12						c.e9-1		Rho guanine nucleotide exchange factor (GEF) 19							19	17	18					1																	16532162		2202	4298	6500	SO:0001630	splice_region_variant	128272				regulation of actin cytoskeleton organization	intracellular	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	g.chr1:16532162G>A	BC012982	CCDS170.1	1p36.13	2011-11-16			ENSG00000142632	ENSG00000142632		"Rho guanine nucleotide exchange factors"	26604	protein-coding gene	gene with protein product		612496				12477932	Standard	NM_153213		Approved	FLJ33962, WGEF	uc001ayc.1	Q8IW93	OTTHUMG00000002219	ENST00000270747.3:c.1452-1C>T	1.37:g.16532162G>A						ARHGEF19_ENST00000421561.1_Intron|ARHGEF19_ENST00000478117.1_5'UTR	p.L484_splice	NM_153213.3	NP_694945.2	Q8IW93	ARHGJ_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|Colorectal(212;3.48e-07)|COAD - Colon adenocarcinoma(227;2.19e-05)|BRCA - Breast invasive adenocarcinoma(304;9.46e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.0117)|READ - Rectum adenocarcinoma(331;0.0649)	9	1588	-		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)	484			DH.		A6NJ04|Q5TEV2|Q6PJQ4|Q8N244	Splice_Site	SNP	ENST00000270747.3	37	c.1451_splice	CCDS170.1	.	.	.	.	.	.	.	.	.	.	G	11.58	1.680413	0.29872	.	.	ENSG00000142632	ENST00000449495	.	.	.	4.91	2.77	0.32553	.	.	.	.	.	T	0.54481	0.1861	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.48969	-0.8987	4	.	.	.	.	6.1681	0.20402	0.0:0.1709:0.5543:0.2748	.	.	.	.	F	173	.	.	S	-	2	0	ARHGEF19	16404749	1.000000	0.71417	0.999000	0.59377	0.939000	0.58152	1.033000	0.30191	1.007000	0.39238	0.561000	0.74099	TCC		0.602	ARHGEF19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006289.1	NM_153213	Silent	3	10	0	0	0	1	0	3	10					A	16532162	G	A	16532162	5	1	381	1	0	0	0	0	0	0	1	0	902	1217	42	3	988	3	ARHGEF19	1	16532162	Splice_Site	SNP	G	TCGA-V1-A9O5-01A-11D-A41K-08	8049339	16532162	232718459	2	18739											
PYHIN1	149628	broad.mit.edu	37	chr1	158943506	158943506	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tcacctcaccaactgtggccCctcctctttcttctgacact	6	13	4	18	0	5	1	2	1	3	0	6	1	6	1	5	1	1	0	5	1	1	2			TCGA-V1-A9O5-01A-11D-A41K-08	TCGA-V1-A9O5-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b3d6c97-dfa9-4531-b8b6-7d195c52e25b	478f8c5f-260a-4d8a-a4f2-a07a8931f6a1	g.chr1:158943506C>A	ENST00000368140.1	+	8	1674	c.1429C>A	c.(1429-1431)Cct>Act	p.P477T	PYHIN1_ENST00000392252.3_Intron|PYHIN1_ENST00000392254.2_Intron|PYHIN1_ENST00000368138.3_Missense_Mutation_p.P468T	NM_152501.4|NM_198928.4|NM_198929.4	NP_689714.2|NP_945146.1|NP_945147.1	Q6K0P9	IFIX_HUMAN	pyrin and HIN domain family, member 1	477					cell cycle (GO:0007049)	nucleus (GO:0005634)				breast(2)|endometrium(3)|large_intestine(10)|lung(32)|ovary(3)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(112;0.0378)					AACTGTGGCCCCTCCTCTTTC	0.438																																						ENST00000368140.1																			0				breast(2)|endometrium(3)|large_intestine(10)|lung(32)|ovary(3)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						c.(1429-1431)Cct>Act		pyrin and HIN domain family, member 1							163	145	151					1																	158943506		2203	4300	6503	SO:0001583	missense	149628				cell cycle	nuclear speck		g.chr1:158943506C>A	AY185344	CCDS1178.1, CCDS1179.1, CCDS30907.1, CCDS30908.1	1q23.1	2008-02-05			ENSG00000163564	ENSG00000163564			28894	protein-coding gene	gene with protein product		612677				15122330	Standard	NM_152501		Approved	IFIX, MGC23885	uc001ftb.3	Q6K0P9	OTTHUMG00000037109	ENST00000368140.1:c.1429C>A	1.37:g.158943506C>A	ENSP00000357122:p.Pro477Thr					PYHIN1_ENST00000392252.3_Intron|PYHIN1_ENST00000368138.3_Missense_Mutation_p.P468T|PYHIN1_ENST00000392254.2_Intron	p.P477T	NM_152501.4|NM_198928.4|NM_198929.4	NP_689714.2|NP_945146.1|NP_945147.1	Q6K0P9	IFIX_HUMAN			8	1674	+	all_hematologic(112;0.0378)		477					Q5T3W6|Q6K0P6|Q6K0P7|Q6K0P8|Q8WW65	Missense_Mutation	SNP	ENST00000368140.1	37	c.1429C>A	CCDS1178.1	.	.	.	.	.	.	.	.	.	.	C	3.005	-0.205222	0.06180	.	.	ENSG00000163564	ENST00000368140;ENST00000368138	T;T	0.06294	3.34;3.32	1.73	-1.94	0.07571	.	.	.	.	.	T	0.00784	0.0026	N	0.08118	0	0.09310	N	1	B;B	0.22604	0.072;0.043	B;B	0.16289	0.015;0.007	T	0.47649	-0.9101	9	0.87932	D	0	.	0.5922	0.00730	0.2456:0.3343:0.2427:0.1773	.	468;477	Q6K0P9-2;Q6K0P9	.;IFIX_HUMAN	T	477;468	ENSP00000357122:P477T;ENSP00000357120:P468T	ENSP00000357120:P468T	P	+	1	0	PYHIN1	157210130	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.412000	0.01039	-0.552000	0.06167	-0.265000	0.10407	CCT		0.438	PYHIN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000090110.1	NM_152501		19	101	1	0	1.96292e-10	1	2.29008e-10	19	101					A	158943506	C	A	158943506	3	1	381	1	0	0	0	0	1	0	0	0	12865	623	22	5	1455	5	PYHIN1	1	158943506	Missense_Mutation	SNP	C	TCGA-V1-A9O5-01A-11D-A41K-08	142411344	158943506	90307115	3	18740											
KIFAP3	22920	broad.mit.edu	37	chr1	169952443	169952443	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tttagttggtccatcatgctGagaaatgtttctaatcattt	10	18	7	6	0	3	1	2	1	1	1	4	2	4	1	1	1	1	3	1	1	3	6			TCGA-V1-A9O5-01A-11D-A41K-08	TCGA-V1-A9O5-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b3d6c97-dfa9-4531-b8b6-7d195c52e25b	478f8c5f-260a-4d8a-a4f2-a07a8931f6a1	g.chr1:169952443G>A	ENST00000361580.2	-	13	1701	c.1474C>T	c.(1474-1476)Cag>Tag	p.Q492*	KIFAP3_ENST00000538366.1_Nonsense_Mutation_p.Q414*|KIFAP3_ENST00000367767.1_Nonsense_Mutation_p.Q448*|KIFAP3_ENST00000367765.1_Nonsense_Mutation_p.Q452*|KIFAP3_ENST00000540905.1_Nonsense_Mutation_p.Q194*	NM_014970.3	NP_055785.2	Q92845	KIFA3_HUMAN	kinesin-associated protein 3	492					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|blood coagulation (GO:0007596)|membrane organization (GO:0061024)|microtubule-based movement (GO:0007018)|microtubule-based process (GO:0007017)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|plus-end-directed vesicle transport along microtubule (GO:0072383)|positive regulation of calcium-dependent cell-cell adhesion (GO:0046587)|protein complex assembly (GO:0006461)|protein localization (GO:0008104)|signal transduction (GO:0007165)	centrosome (GO:0005813)|condensed nuclear chromosome (GO:0000794)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|intraciliary transport particle (GO:0030990)|kinesin II complex (GO:0016939)|microtubule cytoskeleton (GO:0015630)	kinesin binding (GO:0019894)			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(18)|prostate(2)|skin(3)|urinary_tract(2)	35	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					CCATCATGCTGAGAAATGTTT	0.368																																						ENST00000367765.1																			0				endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(18)|prostate(2)|skin(3)|urinary_tract(2)	35						c.(1354-1356)Cag>Tag		kinesin-associated protein 3							66	63	64					1																	169952443		2203	4300	6503	SO:0001587	stop_gained	22920				blood coagulation|plus-end-directed vesicle transport along microtubule|protein complex assembly|signal transduction	centrosome|condensed nuclear chromosome|cytosol|endoplasmic reticulum|kinesin II complex|spindle microtubule	kinesin binding	g.chr1:169952443G>A	U59919	CCDS1288.1, CCDS55659.1, CCDS55660.1, CCDS55661.1	1q24.2	2012-09-20			ENSG00000075945	ENSG00000075945			17060	protein-coding gene	gene with protein product	"Smg GDS"	601836				8900189	Standard	NM_014970		Approved	SMAP, KAP3, FLA3, KAP-1	uc001ggv.3	Q92845	OTTHUMG00000035947	ENST00000361580.2:c.1474C>T	1.37:g.169952443G>A	ENSP00000354560:p.Gln492*					KIFAP3_ENST00000538366.1_Nonsense_Mutation_p.Q414*|KIFAP3_ENST00000540905.1_Nonsense_Mutation_p.Q194*|KIFAP3_ENST00000367767.1_Nonsense_Mutation_p.Q448*|KIFAP3_ENST00000361580.2_Nonsense_Mutation_p.Q492*	p.Q452*	NM_001204517.1	NP_001191446.1	Q92845	KIFA3_HUMAN			13	2855	-	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)		492					B1AKU4|B1AKU5|B2RDL1|B7Z8A3|F5H591|Q8NHU7|Q9H416	Nonsense_Mutation	SNP	ENST00000361580.2	37	c.1354C>T	CCDS1288.1	.	.	.	.	.	.	.	.	.	.	G	40	8.171232	0.98688	.	.	ENSG00000075945	ENST00000361580;ENST00000367765;ENST00000367767;ENST00000540905;ENST00000538366	.	.	.	5.12	5.12	0.69794	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-11.2772	18.5225	0.90959	0.0:0.0:1.0:0.0	.	.	.	.	X	492;452;448;194;414	.	.	Q	-	1	0	KIFAP3	168219067	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.252000	0.95491	2.522000	0.85027	0.557000	0.71058	CAG		0.368	KIFAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087568.1	NM_014970		13	66	0	0	0	1	0	13	66					A	169952443	G	A	169952443	4	1	381	1	0	0	0	0	0	1	0	0	8311	1299	45	3	936	3	KIFAP3	1	169952443	Nonsense_Mutation	SNP	G	TCGA-V1-A9O5-01A-11D-A41K-08	11008937	169952443	79298178	4	18741											
PAPPA2	60676	broad.mit.edu	37	chr1	176640135	176640135	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagtgtgaaggagctgaaggAggccctgcagctgaacagta	12	6	16	7	0	0	3	0	3	0	0	0	6	0	5	1	3	4	4	1	3	4	1			TCGA-V1-A9O5-01A-11D-A41K-08	TCGA-V1-A9O5-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b3d6c97-dfa9-4531-b8b6-7d195c52e25b	478f8c5f-260a-4d8a-a4f2-a07a8931f6a1	g.chr1:176640135A>G	ENST00000367662.3	+	4	3185	c.2021A>G	c.(2020-2022)gAg>gGg	p.E674G	PAPPA2_ENST00000367661.3_Missense_Mutation_p.E674G	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	674	Metalloprotease.				bone morphogenesis (GO:0060349)|cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|proteolysis (GO:0006508)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						GAGCTGAAGGAGGCCCTGCAG	0.507																																						ENST00000367662.3																			0				NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						c.(2020-2022)gAg>gGg		pappalysin 2							175	175	175					1																	176640135		2019	4184	6203	SO:0001583	missense	60676				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding	g.chr1:176640135A>G	BG354569	CCDS41438.1, CCDS41439.1	1q23-q25	2008-05-23	2004-07-07	2004-07-09	ENSG00000116183	ENSG00000116183			14615	protein-coding gene	gene with protein product			"placenta-specific 3"	PLAC3		11018262, 11264294	Standard	NM_021936		Approved	PAPPE, PAPP-A2	uc001gkz.3	Q9BXP8	OTTHUMG00000035025	ENST00000367662.3:c.2021A>G	1.37:g.176640135A>G	ENSP00000356634:p.Glu674Gly					PAPPA2_ENST00000367661.3_Missense_Mutation_p.E674G	p.E674G	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN			4	3185	+			674			Metalloprotease.		A9Z1Y8|Q96PH7|Q96PH8|Q9H4C9	Missense_Mutation	SNP	ENST00000367662.3	37	c.2021A>G	CCDS41438.1	.	.	.	.	.	.	.	.	.	.	A	28.3	4.908155	0.92107	.	.	ENSG00000116183	ENST00000367662;ENST00000367661	T;T	0.34859	4.61;1.34	5.52	5.52	0.82312	.	0.050092	0.85682	D	0.000000	T	0.57621	0.2066	L	0.61036	1.89	0.51767	D	0.999938	D;D	0.89917	0.994;1.0	D;D	0.77004	0.95;0.989	T	0.59841	-0.7378	10	0.59425	D	0.04	-25.4406	15.3027	0.73966	1.0:0.0:0.0:0.0	.	674;674	Q9BXP8;A9Z1Y8	PAPP2_HUMAN;.	G	674	ENSP00000356634:E674G;ENSP00000356633:E674G	ENSP00000356633:E674G	E	+	2	0	PAPPA2	174906758	1.000000	0.71417	0.989000	0.46669	0.992000	0.81027	9.170000	0.94795	2.092000	0.63282	0.533000	0.62120	GAG		0.507	PAPPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084763.1			34	211	0	0	0	1	0	34	211					G	176640135	A	G	176640135	3	3	381	1	0	0	0	0	1	0	0	0	11433	304	11	4	2031	4	PAPPA2	1	176640135	Missense_Mutation	SNP	A	TCGA-V1-A9O5-01A-11D-A41K-08	6687692	176640135	72610486	5	18742											
GAD1	2571	broad.mit.edu	37	chr2	171693379	171693379	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggagaatggctgacatcaacGgccaataccaacatgtaagt	15	7	10	9	1	1	2	1	1	0	1	1	3	1	2	2	3	3	2	2	3	6	2			TCGA-V1-A9O5-01A-11D-A41K-08	TCGA-V1-A9O5-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b3d6c97-dfa9-4531-b8b6-7d195c52e25b	478f8c5f-260a-4d8a-a4f2-a07a8931f6a1	g.chr2:171693379G>A	ENST00000358196.3	+	6	1174	c.624G>A	c.(622-624)acG>acA	p.T208T	GAD1_ENST00000429023.1_3'UTR|GAD1_ENST00000344257.5_Silent_p.T208T|GAD1_ENST00000375272.1_Silent_p.T208T	NM_000817.2	NP_000808.2	Q99259	DCE1_HUMAN	glutamate decarboxylase 1 (brain, 67kDa)	208					gamma-aminobutyric acid biosynthetic process (GO:0009449)|glutamate catabolic process (GO:0006538)|glutamate decarboxylation to succinate (GO:0006540)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter secretion (GO:0007269)|protein-pyridoxal-5-phosphate linkage (GO:0018352)|response to drug (GO:0042493)|synaptic transmission (GO:0007268)	clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane (GO:0061202)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|vesicle membrane (GO:0012506)	glutamate binding (GO:0016595)|glutamate decarboxylase activity (GO:0004351)|pyridoxal phosphate binding (GO:0030170)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(15)|ovary(1)|urinary_tract(2)	35						TGACATCAACGGCCAATACCA	0.408																																						ENST00000358196.3																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(15)|ovary(1)|urinary_tract(2)	35						c.(622-624)acG>acA		glutamate decarboxylase 1 (brain, 67kDa)	L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)						109	90	96					2																	171693379		2203	4300	6503	SO:0001819	synonymous_variant	2571				glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion|protein-pyridoxal-5-phosphate linkage	clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|plasma membrane	glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding	g.chr2:171693379G>A		CCDS2239.1, CCDS2240.1	2q31	2008-02-05	2002-08-29		ENSG00000128683	ENSG00000128683	4.1.1.15		4092	protein-coding gene	gene with protein product		605363	"glutamate decarboxylase 1 (brain, 67kD)"	GAD		1549570	Standard	XM_005246443		Approved		uc002ugi.3	Q99259	OTTHUMG00000044175	ENST00000358196.3:c.624G>A	2.37:g.171693379G>A						GAD1_ENST00000375272.1_Silent_p.T208T|GAD1_ENST00000429023.1_3'UTR|GAD1_ENST00000344257.5_Silent_p.T208T	p.T208T	NM_000817.2	NP_000808.2	Q99259	DCE1_HUMAN			6	1174	+			208					Q49AK1|Q53TQ7|Q9BU91|Q9UHH4	Silent	SNP	ENST00000358196.3	37	c.624G>A	CCDS2239.1																																																																																				0.408	GAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102664.2			4	68	0	0	0	1	0	4	68					A	171693379	G	A	171693379	2	1	381	1	0	0	0	0	0	0	0	1	6179	1103	39	2		2	GAD1	2	171693379	Silent	SNP	G	TCGA-V1-A9O5-01A-11D-A41K-08		171693379	71505994	6	18743											
EEFSEC	60678	broad.mit.edu	37	chr3	127981001	127981001	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcaccgattatacccgtggcGgccaagccggggggaccaga	9	4	15	13	4	0	1	0	0	0	1	0	3	0	2	5	5	2	1	5	5	3	2	rs7625074	byFrequency	TCGA-V1-A9O5-01A-11D-A41K-08	TCGA-V1-A9O5-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b3d6c97-dfa9-4531-b8b6-7d195c52e25b	478f8c5f-260a-4d8a-a4f2-a07a8931f6a1	g.chr3:127981001G>A	ENST00000254730.6	+	3	609	c.555G>A	c.(553-555)gcG>gcA	p.A185A	EEFSEC_ENST00000483457.1_Silent_p.A185A	NM_021937.3	NP_068756.2	P57772	SELB_HUMAN	eukaryotic elongation factor, selenocysteine-tRNA-specific	185	G5. {ECO:0000255|PROSITE- ProRule:PRU01059}.|tr-type G. {ECO:0000255|PROSITE- ProRule:PRU01059}.				selenocysteine incorporation (GO:0001514)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|ribonucleoprotein complex binding (GO:0043021)|selenocysteine insertion sequence binding (GO:0035368)|translation elongation factor activity (GO:0003746)|tRNA binding (GO:0000049)			NS(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(10)|ovary(1)	25						TACCCGTGGCGGCCAAGCCGG	0.532													G|||	7	0.00139776	0.0053	0	5008	,	,		18267	0		0	False		,,,				2504	0					ENST00000254730.6																			0				NS(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(10)|ovary(1)	25						c.(553-555)gcG>gcA		eukaryotic elongation factor, selenocysteine-tRNA-specific		G		15,4391	23.3+/-48.9	0,15,2188	92	106	101		555	-10.6	0.8	3	dbSNP_116	101	0,8600		0,0,4300	yes	coding-synonymous	EEFSEC	NM_021937.3		0,15,6488	AA,AG,GG		0.0,0.3404,0.1153		185/597	127981001	15,12991	2203	4300	6503	SO:0001819	synonymous_variant	60678					cytoplasm|nucleus	GTP binding|GTPase activity|translation elongation factor activity	g.chr3:127981001G>A		CCDS33849.1	3q21.3	2007-05-25			ENSG00000132394	ENSG00000132394			24614	protein-coding gene	gene with protein product	"elongation factor for selenoprotein translation"	607695				10970870, 15229221	Standard	XM_005247696		Approved	SELB, EFSEC	uc003eki.3	P57772	OTTHUMG00000159659	ENST00000254730.6:c.555G>A	3.37:g.127981001G>A						EEFSEC_ENST00000483457.1_Silent_p.A185A	p.A185A	NM_021937.3	NP_068756.2	P57772	SELB_HUMAN			3	609	+			185					Q96HZ6	Silent	SNP	ENST00000254730.6	37	c.555G>A	CCDS33849.1																																																																																				0.532	EEFSEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356738.2	NM_021937		54	113	0	0	0	1	0	54	113					A	127981001	G	A	127981001	2	1	381	1	0	0	0	0	0	0	0	1	4931	1103	39	2		2	EEFSEC	3	127981001	Silent	SNP	G	TCGA-V1-A9O5-01A-11D-A41K-08		127981001	70041429	7	18744											
AGXT2	64902	broad.mit.edu	37	chr5	35039555	35039555	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggggtttctggaaatatgccGtcaccacaggagaaagatgt	12	9	13	7	1	2	2	1	0	1	2	2	4	2	3	2	4	1	1	2	4	3	2	rs150835438		TCGA-V1-A9O5-01A-11D-A41K-08	TCGA-V1-A9O5-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b3d6c97-dfa9-4531-b8b6-7d195c52e25b	478f8c5f-260a-4d8a-a4f2-a07a8931f6a1	g.chr5:35039555G>A	ENST00000231420.6	-	3	436	c.236C>T	c.(235-237)aCg>aTg	p.T79M		NM_031900.3	NP_114106.1	Q9BYV1	AGT2_HUMAN	alanine--glyoxylate aminotransferase 2	79					cellular nitrogen compound metabolic process (GO:0034641)|glycine biosynthetic process, by transamination of glyoxylate (GO:0019265)|glyoxylate catabolic process (GO:0009436)|glyoxylate metabolic process (GO:0046487)|L-alanine catabolic process, by transamination (GO:0019481)|nucleobase-containing small molecule metabolic process (GO:0055086)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	(R)-3-amino-2-methylpropionate-pyruvate transaminase activity (GO:0047305)|alanine-glyoxylate transaminase activity (GO:0008453)|beta-alanine-pyruvate transaminase activity (GO:0016223)|pyridoxal phosphate binding (GO:0030170)	p.T79M(1)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(18)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	41	all_lung(31;4.52e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)	GBM - Glioblastoma multiforme(108;0.181)	Glycine(DB00145)|L-Alanine(DB00160)|Pyruvic acid(DB00119)	GAAATATGCCGTCACCACAGG	0.473													G|||	1	0.000199681	8e-04	0	5008	,	,		19240	0		0	False		,,,				2504	0					ENST00000231420.6																			1	Substitution - Missense(1)	p.T79M(1)	prostate(1)	NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(18)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	41						c.(235-237)aCg>aTg		alanine--glyoxylate aminotransferase 2	Glycine(DB00145)|L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114)|Pyruvic acid(DB00119)	G	MET/THR	2,4404	4.2+/-10.8	0,2,2201	83	86	85		236	4.6	0	5	dbSNP_134	85	0,8600		0,0,4300	yes	missense	AGXT2	NM_031900.3	81	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	benign	79/515	35039555	2,13004	2203	4300	6503	SO:0001583	missense	64902				glyoxylate metabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	mitochondrial matrix	(R)-3-amino-2-methylpropionate-pyruvate transaminase activity|alanine-glyoxylate transaminase activity|pyridoxal phosphate binding	g.chr5:35039555G>A	AJ292204	CCDS3908.1	5p13	2010-05-07	2010-05-07		ENSG00000113492	ENSG00000113492	2.6.1.44		14412	protein-coding gene	gene with protein product	"beta-alanine-pyruvate aminotransferase", "beta-ALAAT II"	612471	"alanine-glyoxylate aminotransferase 2"			15240345	Standard	NM_031900		Approved	AGT2	uc003jjf.3	Q9BYV1	OTTHUMG00000090788	ENST00000231420.6:c.236C>T	5.37:g.35039555G>A	ENSP00000231420:p.Thr79Met						p.T79M	NM_031900.3	NP_114106.1	Q9BYV1	AGT2_HUMAN	COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)	GBM - Glioblastoma multiforme(108;0.181)	3	436	-	all_lung(31;4.52e-05)		79					B7ZM47|E9PDL7|Q53FB4|Q53FY7|Q53G03|Q5W7Q1	Missense_Mutation	SNP	ENST00000231420.6	37	c.236C>T	CCDS3908.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	G	10.84	1.462948	0.26248	4.54E-4	0.0	ENSG00000113492	ENST00000231420	T	0.19806	2.12	5.45	4.58	0.56647	Pyridoxal phosphate-dependent transferase, major region, subdomain 2 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.583340	0.19101	N	0.122712	T	0.18551	0.0445	M	0.66939	2.045	0.09310	N	1	B;B	0.32573	0.376;0.109	B;B	0.23275	0.045;0.014	T	0.19712	-1.0297	10	0.33940	T	0.23	-14.8511	6.3606	0.21427	0.0753:0.1385:0.6589:0.1274	.	79;79	E9PDL7;Q9BYV1	.;AGT2_HUMAN	M	79	ENSP00000231420:T79M	ENSP00000231420:T79M	T	-	2	0	AGXT2	35075312	0.000000	0.05858	0.016000	0.15963	0.133000	0.20885	0.403000	0.20982	1.301000	0.44836	0.655000	0.94253	ACG		0.473	AGXT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207574.2	NM_031900		18	74	0	0	0	1	0	18	74					A	35039555	G	A	35039555	3	1	381	1	0	0	0	0	1	0	0	0	405	1145	40	1	1356	1	AGXT2	5	35039555	Missense_Mutation	SNP	G	TCGA-V1-A9O5-01A-11D-A41K-08		35039555	145875705	8	18745											
ABCA13	154664	broad.mit.edu	37	chr7	48318152	48318152	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agttatacttgctaatctaaCggatttgcttttctttataa	11	19	5	6	1	2	0	0	0	2	0	2	1	2	1	0	1	4	3	0	1	6	11	rs199809056		TCGA-V1-A9O5-01A-11D-A41K-08	TCGA-V1-A9O5-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b3d6c97-dfa9-4531-b8b6-7d195c52e25b	478f8c5f-260a-4d8a-a4f2-a07a8931f6a1	g.chr7:48318152C>T	ENST00000435803.1	+	18	7385	c.7361C>T	c.(7360-7362)aCg>aTg	p.T2454M		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	2454					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						GCTAATCTAACGGATTTGCTT	0.343																																						ENST00000435803.1																			0				breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						c.(7360-7362)aCg>aTg		ATP-binding cassette, sub-family A (ABC1), member 13		C	MET/THR	1,3641		0,1,1820	92	91	91		7361	0.5	0	7		91	4,8138		0,4,4067	yes	missense	ABCA13	NM_152701.3	81	0,5,5887	TT,TC,CC		0.0491,0.0275,0.0424	probably-damaging	2454/5059	48318152	5,11779	1821	4071	5892	SO:0001583	missense	154664				transport	integral to membrane	ATP binding|ATPase activity	g.chr7:48318152C>T	AY204751	CCDS47584.1	7p12.3	2012-03-14			ENSG00000179869	ENSG00000179869		"ATP binding cassette transporters / subfamily A"	14638	protein-coding gene	gene with protein product		607807				12697998	Standard	NM_152701		Approved	FLJ33876, FLJ33951	uc003toq.2	Q86UQ4	OTTHUMG00000155840	ENST00000435803.1:c.7361C>T	7.37:g.48318152C>T	ENSP00000411096:p.Thr2454Met						p.T2454M	NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN			18	7385	+			2454					K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Missense_Mutation	SNP	ENST00000435803.1	37	c.7361C>T	CCDS47584.1	.	.	.	.	.	.	.	.	.	.	C	17.36	3.369689	0.61624	2.75E-4	4.91E-4	ENSG00000179869	ENST00000435803	T	0.58358	0.34	4.92	0.517	0.17025	.	0.433637	0.19336	N	0.116762	T	0.49270	0.1547	L	0.29908	0.895	0.09310	N	0.99999	D	0.89917	1.0	P	0.61800	0.894	T	0.37009	-0.9724	10	0.45353	T	0.12	.	4.6121	0.12408	0.0:0.4649:0.2551:0.28	.	2454	Q86UQ4	ABCAD_HUMAN	M	2454	ENSP00000411096:T2454M	ENSP00000411096:T2454M	T	+	2	0	ABCA13	48288698	0.001000	0.12720	0.000000	0.03702	0.605000	0.37080	0.209000	0.17435	-0.227000	0.09884	-0.126000	0.14955	ACG		0.343	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341964.2	NM_152701		15	56	0	0	0	1	0	15	56					T	48318152	C	T	48318152	3	4	381	1	0	0	0	0	1	0	0	0	31	536	19	1	7260	1	ABCA13	7	48318152	Missense_Mutation	SNP	C	TCGA-V1-A9O5-01A-11D-A41K-08		48318152	110820511	9	18746											
MLL5	55904	broad.mit.edu	37	chr7	104753181	104753181	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacatgtagtagggcctgttCatgcggtcacccctgggtcg	6	10	13	12	2	2	0	2	0	0	0	3	0	2	0	3	3	1	3	3	3	2	3			TCGA-V1-A9O5-01A-11D-A41K-08	TCGA-V1-A9O5-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b3d6c97-dfa9-4531-b8b6-7d195c52e25b	478f8c5f-260a-4d8a-a4f2-a07a8931f6a1	g.chr7:104753181C>A	ENST00000311117.3	+	27	5523	c.4978C>A	c.(4978-4980)Cat>Aat	p.H1660N	SRPK2_ENST00000493638.1_Intron|KMT2E_ENST00000334877.4_Missense_Mutation_p.H1618N|KMT2E_ENST00000257745.4_Missense_Mutation_p.H1660N	NM_182931.2	NP_891847.1	Q8IZD2	KMT2E_HUMAN	lysine (K)-specific methyltransferase 2E	1660	Pro-rich. {ECO:0000255}.				cell cycle arrest (GO:0007050)|cellular response to retinoic acid (GO:0071300)|DNA methylation (GO:0006306)|erythrocyte differentiation (GO:0030218)|histone H3-K4 methylation (GO:0051568)|neutrophil activation (GO:0042119)|neutrophil mediated immunity (GO:0002446)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of transcription, DNA-templated (GO:0045893)|retinoic acid receptor signaling pathway (GO:0048384)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|MLL5-L complex (GO:0070688)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)										AGGGCCTGTTCATGCGGTCAC	0.597																																						ENST00000334877.4																			0											c.(4852-4854)Cat>Aat		lysine (K)-specific methyltransferase 2E							100	93	95					7																	104753181		2203	4300	6503	SO:0001583	missense	55904							g.chr7:104753181C>A	AF067804	CCDS34723.1	7q22.1	2013-05-09	2013-05-09	2013-05-09	ENSG00000005483	ENSG00000005483		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	18541	protein-coding gene	gene with protein product		608444	"myeloid/lymphoid or mixed-lineage leukemia 5 (trithorax homolog, Drosophila)"	MLL5		9218106, 7672722	Standard	XM_005250493		Approved	HDCMC04P		Q8IZD2	OTTHUMG00000157403	ENST00000311117.3:c.4978C>A	7.37:g.104753181C>A	ENSP00000312379:p.His1660Asn					SRPK2_ENST00000493638.1_Intron|KMT2E_ENST00000311117.3_Missense_Mutation_p.H1660N|KMT2E_ENST00000257745.4_Missense_Mutation_p.H1660N	p.H1618N							26	5386	+								B6ZDE4|B6ZDM3|M4K8J3|Q6P5Y2|Q6PKG4|Q6T316|Q86TI3|Q86W12|Q86WG0|Q86WL2|Q8IV78|Q8IWR5|Q8NFF8|Q9NWE7	Missense_Mutation	SNP	ENST00000311117.3	37	c.4852C>A	CCDS34723.1	.	.	.	.	.	.	.	.	.	.	c	10.37	1.332186	0.24167	.	.	ENSG00000005483	ENST00000311117;ENST00000334877;ENST00000351043;ENST00000257745	D;D;D	0.93712	-3.24;-3.27;-3.24	2.95	2.95	0.34219	.	0.342033	0.20198	N	0.097145	D	0.91945	0.7449	N	0.19112	0.55	0.80722	D	1	P;D	0.57899	0.782;0.981	B;D	0.65140	0.402;0.932	D	0.88558	0.3121	10	0.15952	T	0.53	.	14.3313	0.66559	0.0:1.0:0.0:0.0	.	1580;1660	F8W6H1;Q8IZD2	.;MLL5_HUMAN	N	1660;1618;1580;1660	ENSP00000312379:H1660N;ENSP00000335599:H1618N;ENSP00000257745:H1660N	ENSP00000257745:H1660N	H	+	1	0	MLL5	104540417	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	3.674000	0.54598	1.620000	0.50308	0.298000	0.19748	CAT		0.597	KMT2E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348697.1			3	44	1	0	1	1	1	3	44					A	104753181	C	A	104753181	3	1	381	1	0	0	0	0	1	0	0	0	9624	826	29	5	5076	5	MLL5	7	104753181	Missense_Mutation	SNP	C	TCGA-V1-A9O5-01A-11D-A41K-08	56435029	104753181	54385482	10	18747											
C8orf74	203076	broad.mit.edu	37	chr8	10557913	10557913	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgccccccatcaccagccacGcaggccaggaggaagccctg	9	2	11	19	2	1	0	1	0	0	0	1	2	1	2	7	3	2	1	7	3	1	0	rs374082262		TCGA-V1-A9O5-01A-11D-A41K-08	TCGA-V1-A9O5-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b3d6c97-dfa9-4531-b8b6-7d195c52e25b	478f8c5f-260a-4d8a-a4f2-a07a8931f6a1	g.chr8:10557913G>A	ENST00000304519.5	+	4	846	c.817G>A	c.(817-819)Gca>Aca	p.A273T	RP1L1_ENST00000329335.3_Intron	NM_001040032.1	NP_001035121	Q6P047	CH074_HUMAN	chromosome 8 open reading frame 74	273										central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|urinary_tract(1)	13				COAD - Colon adenocarcinoma(149;0.0811)		CACCAGCCACGCAGGCCAGGA	0.582																																						ENST00000304519.5																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|urinary_tract(1)	13						c.(817-819)Gca>Aca		chromosome 8 open reading frame 74		G	THR/ALA	1,3885		0,1,1942	35	42	40		817	-1.3	0	8		40	0,8284		0,0,4142	no	missense	C8orf74	NM_001040032.1	58	0,1,6084	AA,AG,GG		0.0,0.0257,0.0082	benign	273/295	10557913	1,12169	1943	4142	6085	SO:0001583	missense	203076							g.chr8:10557913G>A	BC038534	CCDS47800.1	8p23.1	2012-04-17			ENSG00000171060	ENSG00000171060			32296	protein-coding gene	gene with protein product							Standard	NM_001040032		Approved		uc003wtd.1	Q6P047	OTTHUMG00000163807	ENST00000304519.5:c.817G>A	8.37:g.10557913G>A	ENSP00000307129:p.Ala273Thr					RP1L1_ENST00000329335.3_Intron	p.A273T	NM_001040032.1	NP_001035121.1	Q6P047	CH074_HUMAN		COAD - Colon adenocarcinoma(149;0.0811)	4	846	+			273					A2RUD6	Missense_Mutation	SNP	ENST00000304519.5	37	c.817G>A	CCDS47800.1	.	.	.	.	.	.	.	.	.	.	G	6.549	0.469567	0.12461	2.57E-4	0.0	ENSG00000171060	ENST00000304519	T	0.31247	1.5	4.71	-1.27	0.09347	.	0.515969	0.18246	N	0.147093	T	0.15609	0.0376	L	0.29908	0.895	0.09310	N	1	P	0.37914	0.611	B	0.28465	0.09	T	0.12630	-1.0540	10	0.66056	D	0.02	.	7.481	0.27404	0.0:0.2914:0.5259:0.1827	.	273	Q6P047	CH074_HUMAN	T	273	ENSP00000307129:A273T	ENSP00000307129:A273T	A	+	1	0	C8orf74	10595323	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.091000	0.03369	-0.037000	0.13646	-0.311000	0.09066	GCA		0.582	C8orf74-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375675.1	NM_001040032		4	22	0	0	0	1	0	4	22					A	10557913	G	A	10557913	3	1	381	1	0	0	0	0	1	0	0	0	2436	1087	38	1	831	1	C8orf74	8	10557913	Missense_Mutation	SNP	G	TCGA-V1-A9O5-01A-11D-A41K-08		10557913	135806109	11	18748											
NAT2	10	broad.mit.edu	37	chr8	18257669	18257669	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	caagccatggagttgggcttAgaggctatttttgatcacat	10	13	11	7	0	1	2	1	1	0	1	1	3	1	3	1	3	1	3	1	3	3	5			TCGA-V1-A9O5-01A-11D-A41K-08	TCGA-V1-A9O5-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b3d6c97-dfa9-4531-b8b6-7d195c52e25b	478f8c5f-260a-4d8a-a4f2-a07a8931f6a1	g.chr8:18257669A>T	ENST00000286479.3	+	2	263	c.156A>T	c.(154-156)ttA>ttT	p.L52F	NAT2_ENST00000520116.1_Intron	NM_000015.2	NP_000006.2	P11245	ARY2_HUMAN	N-acetyltransferase 2 (arylamine N-acetyltransferase)	52					small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	arylamine N-acetyltransferase activity (GO:0004060)			kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(2)	12				Colorectal(111;0.0531)|COAD - Colon adenocarcinoma(73;0.21)	Acetaminophen(DB00316)|Clonazepam(DB01068)|Dapsone(DB00250)|Ezogabine(DB04953)|Isoniazid(DB00951)|Sulfamethoxazole(DB01015)	AGTTGGGCTTAGAGGCTATTT	0.473									Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of																													ENST00000286479.3																			0				kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(2)	12						c.(154-156)ttA>ttT		N-acetyltransferase 2 (arylamine N-acetyltransferase)							109	114	112					8																	18257669		2203	4300	6503	SO:0001583	missense	10	Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of	Familial Cancer Database	incl.: Familial Head and Neck Cancer	xenobiotic metabolic process	cytosol	arylamine N-acetyltransferase activity	g.chr8:18257669A>T	D90042	CCDS6008.1	8p22	2012-01-18			ENSG00000156006	ENSG00000156006	2.3.1.5		7646	protein-coding gene	gene with protein product		612182		AAC2		7773298	Standard	NM_000015		Approved		uc003wyw.1	P11245	OTTHUMG00000130826	ENST00000286479.3:c.156A>T	8.37:g.18257669A>T	ENSP00000286479:p.Leu52Phe					NAT2_ENST00000520116.1_Intron	p.L52F	NM_000015.2	NP_000006.2	P11245	ARY2_HUMAN		Colorectal(111;0.0531)|COAD - Colon adenocarcinoma(73;0.21)	2	263	+			52					O43637|O60654|O60655|Q13146|Q16697|Q2MLE4|Q2MLF5|Q2MLG8|Q2MLJ6|Q2MLK4|Q2MLK6|Q2MLN7|Q6LET4|Q86XS0|Q86XS1|Q96KY8|Q96T64|Q96T65|Q9H220	Missense_Mutation	SNP	ENST00000286479.3	37	c.156A>T	CCDS6008.1	.	.	.	.	.	.	.	.	.	.	A	4.238	0.043019	0.08196	.	.	ENSG00000156006	ENST00000286479	T	0.02395	4.31	2.95	0.967	0.19674	.	0.000000	0.64402	D	0.000007	T	0.05960	0.0155	M	0.88450	2.955	0.37017	D	0.896026	B	0.30526	0.283	B	0.32533	0.147	T	0.04885	-1.0920	10	0.59425	D	0.04	.	4.9409	0.13965	0.7923:0.0:0.2077:0.0	.	52	A4Z6T7	.	F	52	ENSP00000286479:L52F	ENSP00000286479:L52F	L	+	3	2	NAT2	18301949	0.970000	0.33590	0.013000	0.15412	0.087000	0.18053	0.398000	0.20899	0.202000	0.20498	0.358000	0.22013	TTA		0.473	NAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253380.1	NM_000015		63	94	0	0	0	1	0	63	94					T	18257669	A	T	18257669	3	4	381	1	0	0	0	0	1	0	0	0	10177	417	15	5	158	5	NAT2	8	18257669	Missense_Mutation	SNP	A	TCGA-V1-A9O5-01A-11D-A41K-08	7699756	18257669	128106353	12	18749											
UQCRB	7381	broad.mit.edu	37	chr8	97243340	97243340	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cgaataacctctttcagataCggttcaaggtagaaattttc	13	13	7	8	2	3	2	2	0	1	2	4	3	3	2	1	2	2	2	1	2	6	7	rs34142481	byFrequency	TCGA-V1-A9O5-01A-11D-A41K-08	TCGA-V1-A9O5-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b3d6c97-dfa9-4531-b8b6-7d195c52e25b	478f8c5f-260a-4d8a-a4f2-a07a8931f6a1	g.chr8:97243340C>T	ENST00000287022.5	-	4	382	c.279G>A	c.(277-279)ccG>ccA	p.P93P	UQCRB_ENST00000523920.1_3'UTR|UQCRB_ENST00000518406.1_Missense_Mutation_p.R139H|UQCRB_ENST00000517523.1_3'UTR	NM_001199975.2|NM_006294.4	NP_001186904.1|NP_006285.1	P14927	QCR7_HUMAN	ubiquinol-cytochrome c reductase binding protein	93					aerobic respiration (GO:0009060)|cellular metabolic process (GO:0044237)|mitochondrial electron transport, ubiquinol to cytochrome c (GO:0006122)|oxidation-reduction process (GO:0055114)|oxidative phosphorylation (GO:0006119)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain (GO:0005746)|mitochondrial respiratory chain complex III (GO:0005750)				kidney(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	10	Breast(36;5.16e-05)					CTTTCAGATACGGTTCAAGGT	0.353													C|||	4	0.000798722	0.003	0	5008	,	,		17679	0		0	False		,,,				2504	0					ENST00000518406.1																			0				kidney(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	10						c.(415-417)cGt>cAt		ubiquinol-cytochrome c reductase binding protein		C	,	36,4370	37.6+/-69.7	1,34,2168	80	91	87		183,279	-6.4	1	8	dbSNP_126	87	0,8588		0,0,4294	no	coding-synonymous,coding-synonymous	UQCRB	NM_001199975.1,NM_006294.3	,	1,34,6462	TT,TC,CC		0.0,0.8171,0.2771	,	61/80,93/112	97243340	36,12958	2203	4294	6497	SO:0001819	synonymous_variant	7381				aerobic respiration|mitochondrial electron transport, ubiquinol to cytochrome c	mitochondrial respiratory chain	ubiquinol-cytochrome-c reductase activity	g.chr8:97243340C>T	X13585	CCDS6269.1, CCDS59107.1	8q22	2011-07-04			ENSG00000156467	ENSG00000156467		"Mitochondrial respiratory chain complex / Complex III"	12582	protein-coding gene	gene with protein product	"ubiquinol-cytochrome c reductase, complex III subunit VI", "cytochrome b-c1 complex subunit 7"	191330		UQBP		2167087, 2543413, 3056408	Standard	NM_006294		Approved	QP-C, QCR7, UQCR6	uc022ayx.1	P14927	OTTHUMG00000164711	ENST00000287022.5:c.279G>A	8.37:g.97243340C>T						UQCRB_ENST00000523920.1_3'UTR|UQCRB_ENST00000287022.5_Silent_p.P93P|UQCRB_ENST00000517523.1_3'UTR	p.R139H	NM_001254752.1	NP_001241681.1	P14927	QCR7_HUMAN			5	424	-	Breast(36;5.16e-05)		0					E5RJU0|Q6FGD1	Missense_Mutation	SNP	ENST00000287022.5	37	c.416G>A	CCDS6269.1	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	C	11.68	1.709477	0.30322	0.008171	0.0	ENSG00000156467	ENST00000518406	T	0.55760	0.5	5.81	-6.37	0.01963	.	.	.	.	.	T	0.38665	0.1049	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.57745	-0.7758	6	0.87932	D	0	-14.5774	3.1811	0.06584	0.1933:0.4025:0.1033:0.3009	rs34142481	.	.	.	H	139	ENSP00000430494:R139H	ENSP00000430494:R139H	R	-	2	0	UQCRB	97312516	0.393000	0.25237	0.967000	0.41034	0.639000	0.38242	-0.583000	0.05807	-0.797000	0.04450	-0.290000	0.09829	CGT		0.353	UQCRB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379863.1	NM_006294		4	225	0	0	0	1	0	4	225					T	97243340	C	T	97243340	2	4	381	1	0	0	0	0	0	0	0	1	17015	523	19	1		1	UQCRB	8	97243340	Silent	SNP	C	TCGA-V1-A9O5-01A-11D-A41K-08	78985671	97243340	49120682	13	18750											
SCRIB	23513	broad.mit.edu	37	chr8	144893085	144893085	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	caacaacctaccgaggctggGtgggggctgctggggcagca	8	5	17	11	1	0	0	0	0	0	0	0	1	0	0	2	6	5	5	2	6	3	1			TCGA-V1-A9O5-01A-11D-A41K-08	TCGA-V1-A9O5-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b3d6c97-dfa9-4531-b8b6-7d195c52e25b	478f8c5f-260a-4d8a-a4f2-a07a8931f6a1	g.chr8:144893085G>A	ENST00000320476.3	-	11	1270	c.1264C>T	c.(1264-1266)Ccc>Tcc	p.P422S	SCRIB_ENST00000377533.3_Missense_Mutation_p.P341S|SCRIB_ENST00000356994.2_Missense_Mutation_p.P422S|MIR937_ENST00000401271.1_RNA	NM_015356.4	NP_056171	Q14160	SCRIB_HUMAN	scribbled planar cell polarity protein	422	Sufficient for targeting to adherens junction and to inhibit cell proliferation.		P -> L (in dbSNP:rs6558394). {ECO:0000269|PubMed:15649318, ECO:0000269|PubMed:15806148, ECO:0000269|PubMed:8590280, ECO:0000269|Ref.3}.		activation of Rac GTPase activity (GO:0032863)|apoptotic process involved in morphogenesis (GO:0060561)|astrocyte cell migration (GO:0043615)|asymmetric protein localization (GO:0008105)|auditory receptor cell stereocilium organization (GO:0060088)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cochlear nucleus development (GO:0021747)|establishment of apical/basal cell polarity (GO:0035089)|mammary gland duct morphogenesis (GO:0060603)|negative regulation of mitotic cell cycle (GO:0045930)|neural tube closure (GO:0001843)|positive chemotaxis (GO:0050918)|positive regulation of apoptotic process (GO:0043065)|positive regulation of receptor recycling (GO:0001921)|protein localization to adherens junction (GO:0071896)|single organismal cell-cell adhesion (GO:0016337)|synaptic vesicle endocytosis (GO:0048488)|synaptic vesicle targeting (GO:0016080)|viral process (GO:0016032)|wound healing (GO:0042060)	basolateral plasma membrane (GO:0016323)|cell projection (GO:0042995)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|myelin sheath abaxonal region (GO:0035748)|plasma membrane (GO:0005886)|Scrib-APC-beta-catenin complex (GO:0034750)				NS(1)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	42	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			CCGAGGCTGGGTGGGGGCTGC	0.657																																					Pancreas(51;966 1133 10533 14576 29674)	ENST00000356994.2																			0				NS(1)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	42						c.(1264-1266)Ccc>Tcc		scribbled planar cell polarity protein							22	23	23					8																	144893085		2199	4297	6496	SO:0001583	missense	23513				activation of Rac GTPase activity|apoptosis involved in morphogenesis|cell migration|cell proliferation|cell-cell adhesion|establishment of apical/basal cell polarity|interspecies interaction between organisms|mammary gland duct morphogenesis|negative regulation of mitotic cell cycle|positive chemotaxis|positive regulation of apoptosis|positive regulation of receptor recycling|protein localization to adherens junction	cell-cell adherens junction|Scrib-APC-beta-catenin complex	protein binding	g.chr8:144893085G>A	AY062238	CCDS6411.1, CCDS6412.1	8q24.3	2013-03-05	2013-03-05		ENSG00000180900	ENSG00000180900			30377	protein-coding gene	gene with protein product		607733	"scribbled homolog (Drosophila)"			11027293, 14681682	Standard	NM_182706		Approved	KIAA0147, SCRB1, Vartul	uc003yzo.1	Q14160	OTTHUMG00000165154	ENST00000320476.3:c.1264C>T	8.37:g.144893085G>A	ENSP00000322938:p.Pro422Ser					SCRIB_ENST00000377533.3_Missense_Mutation_p.P341S|SCRIB_ENST00000320476.3_Missense_Mutation_p.P422S	p.P422S	NM_182706.4	NP_874365.3	Q14160	SCRIB_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)		11	1270	-	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		422		P -> L (in dbSNP:rs6558394).	Sufficient for targeting to adherens junction and to inhibit cell proliferation.		Q6P496|Q7Z5D1|Q8WWV8|Q96C69|Q96GG1	Missense_Mutation	SNP	ENST00000320476.3	37	c.1264C>T	CCDS6411.1	.	.	.	.	.	.	.	.	.	.	G	2.983	-0.209783	0.06140	.	.	ENSG00000180900	ENST00000356994;ENST00000320476;ENST00000377533	T;T;T	0.76578	-1.03;-1.03;-1.03	4.21	2.19	0.27852	.	.	.	.	.	T	0.55386	0.1917	N	0.14661	0.345	0.31849	N	0.622493	P;B	0.36027	0.533;0.216	B;B	0.32928	0.083;0.155	T	0.54906	-0.8223	9	0.07175	T	0.84	.	10.9074	0.47088	0.0825:0.1317:0.7858:0.0	.	422;422	Q14160;Q14160-3	SCRIB_HUMAN;.	S	422;422;341	ENSP00000349486:P422S;ENSP00000322938:P422S;ENSP00000366756:P341S	ENSP00000322938:P422S	P	-	1	0	SCRIB	144965073	0.998000	0.40836	0.184000	0.23157	0.020000	0.10135	2.513000	0.45494	0.348000	0.23949	-1.598000	0.00824	CCC		0.657	SCRIB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000382215.1	NM_015356		10	38	0	0	0	1	0	10	38					A	144893085	G	A	144893085	3	1	381	1	0	0	0	0	1	0	0	0	13937	1261	44	3	3811	3	SCRIB	8	144893085	Missense_Mutation	SNP	G	TCGA-V1-A9O5-01A-11D-A41K-08	47649745	144893085	1470937	14	18751											
EPPK1	83481	broad.mit.edu	37	chr8	144941923	144941923	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtctctgtttcttcaattgtCgtggtgatgatttccagcaa	7	17	9	8	1	3	2	1	2	2	0	6	2	4	2	1	1	1	2	1	1	2	4			TCGA-V1-A9O5-01A-11D-A41K-08	TCGA-V1-A9O5-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b3d6c97-dfa9-4531-b8b6-7d195c52e25b	478f8c5f-260a-4d8a-a4f2-a07a8931f6a1	g.chr8:144941923C>T	ENST00000525985.1	-	2	5570	c.5499G>A	c.(5497-5499)acG>acA	p.T1833T				P58107	EPIPL_HUMAN	epiplakin 1	1833						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CTTCAATTGTCGTGGTGATGA	0.537																																						ENST00000525985.1																			0				NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						c.(5497-5499)acG>acA		epiplakin 1							266	259	262					8																	144941923		2065	4209	6274	SO:0001819	synonymous_variant	83481					cytoplasm|cytoskeleton	protein binding|structural molecule activity	g.chr8:144941923C>T	AB051895	CCDS75800.1	8q24.3	2014-09-17				ENSG00000261150			15577	protein-coding gene	gene with protein product	"epidermal autoantigen 450K"	607553				11278896, 15671067	Standard	NM_031308		Approved	EPIPL1	uc003zaa.1	P58107		ENST00000525985.1:c.5499G>A	8.37:g.144941923C>T							p.T1833T			P58107	EPIPL_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		2	5570	-	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		1833					Q76E58|Q9NSU9	Silent	SNP	ENST00000525985.1	37	c.5499G>A																																																																																					0.537	EPPK1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000382675.1	NM_031308		235	112	0	0	0	1	0	235	112					T	144941923	C	T	144941923	2	4	381	1	0	0	0	0	0	0	0	1	5190	871	31	2		2	EPPK1	8	144941923	Silent	SNP	C	TCGA-V1-A9O5-01A-11D-A41K-08	48838	144941923	1422099	15	18752											
CPEB3	22849	broad.mit.edu	37	chr10	93902802	93902802	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttacctttaggaggaaaataAgacttgctttcagctttgtg	11	15	9	6	0	1	1	1	0	0	1	1	3	1	3	1	2	3	2	1	2	5	7			TCGA-V1-A9O5-01A-11D-A41K-08	TCGA-V1-A9O5-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b3d6c97-dfa9-4531-b8b6-7d195c52e25b	478f8c5f-260a-4d8a-a4f2-a07a8931f6a1	g.chr10:93902802A>T	ENST00000265997.4	-	6	1609	c.1437T>A	c.(1435-1437)tcT>tcA	p.S479S	CPEB3_ENST00000412050.4_Silent_p.S465S	NM_014912.4	NP_055727.3	Q8NE35	CPEB3_HUMAN	cytoplasmic polyadenylation element binding protein 3	479	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				3'-UTR-mediated mRNA destabilization (GO:0061158)|cellular response to amino acid stimulus (GO:0071230)|long-term memory (GO:0007616)|negative regulation of cytoplasmic translational elongation (GO:1900248)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of translation (GO:0017148)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of mRNA polyadenylation (GO:1900365)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|positive regulation of translation (GO:0045727)|regulation of dendritic spine development (GO:0060998)|regulation of synaptic plasticity (GO:0048167)|translation (GO:0006412)	apical dendrite (GO:0097440)|CCR4-NOT complex (GO:0030014)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|neuron projection (GO:0043005)|nucleus (GO:0005634)|synapse (GO:0045202)	mRNA 3'-UTR AU-rich region binding (GO:0035925)|mRNA 3'-UTR binding (GO:0003730)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|RNA stem-loop binding (GO:0035613)|translation factor activity, nucleic acid binding (GO:0008135)|translation repressor activity, nucleic acid binding (GO:0000900)			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(5)|skin(2)|upper_aerodigestive_tract(2)	18		Colorectal(252;0.0869)				GAGGAAAATAAGACTTGCTTT	0.413																																						ENST00000412050.4																			0				breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(5)|skin(2)|upper_aerodigestive_tract(2)	18						c.(1393-1395)tcT>tcA		cytoplasmic polyadenylation element binding protein 3							104	102	103					10																	93902802		2203	4300	6503	SO:0001819	synonymous_variant	22849						nucleotide binding|RNA binding	g.chr10:93902802A>T	AB023157	CCDS31246.1, CCDS53553.1	10q23.33	2013-02-12			ENSG00000107864	ENSG00000107864		"RNA binding motif (RRM) containing"	21746	protein-coding gene	gene with protein product		610606				10231032, 12672660	Standard	NM_014912		Approved	KIAA0940	uc001khw.2	Q8NE35	OTTHUMG00000018756	ENST00000265997.4:c.1437T>A	10.37:g.93902802A>T						CPEB3_ENST00000265997.4_Silent_p.S479S	p.S465S	NM_001178137.1	NP_001171608.1	Q8NE35	CPEB3_HUMAN			6	1483	-		Colorectal(252;0.0869)	479			RRM 1.		Q5T389|Q9NQJ7|Q9Y2E9	Silent	SNP	ENST00000265997.4	37	c.1395T>A	CCDS31246.1																																																																																				0.413	CPEB3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049387.2	NM_014912		3	37	0	0	0	1	0	3	37					T	93902802	A	T	93902802	2	4	381	1	0	0	0	0	0	0	0	1	3802	59	3	5		5	CPEB3	10	93902802	Silent	SNP	A	TCGA-V1-A9O5-01A-11D-A41K-08		93902802	41631945	16	18753											
CPT1A	1374	broad.mit.edu	37	chr11	68540743	68540743	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagttcttaccttgtagtgcGccagctggagggccagctgc	6	10	13	12	1	1	0	0	0	1	0	1	1	1	1	3	2	5	4	3	2	2	4			TCGA-V1-A9O5-01A-11D-A41K-08	TCGA-V1-A9O5-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b3d6c97-dfa9-4531-b8b6-7d195c52e25b	478f8c5f-260a-4d8a-a4f2-a07a8931f6a1	g.chr11:68540743G>A	ENST00000265641.5	-	14	1884	c.1730C>T	c.(1729-1731)gCg>gTg	p.A577V	CPT1A_ENST00000539743.1_Missense_Mutation_p.A577V|CPT1A_ENST00000540367.1_Missense_Mutation_p.A577V|CPT1A_ENST00000376618.2_Missense_Mutation_p.A577V|CPT1A_ENST00000537756.2_5'UTR	NM_001876.3	NP_001867.2	P50416	CPT1A_HUMAN	carnitine palmitoyltransferase 1A (liver)	577					carnitine metabolic process (GO:0009437)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|cellular response to fatty acid (GO:0071398)|eating behavior (GO:0042755)|epithelial cell differentiation (GO:0030855)|fatty acid beta-oxidation (GO:0006635)|glucose metabolic process (GO:0006006)|long-chain fatty acid metabolic process (GO:0001676)|positive regulation of fatty acid beta-oxidation (GO:0032000)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|triglyceride metabolic process (GO:0006641)	integral component of mitochondrial outer membrane (GO:0031307)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	carnitine O-palmitoyltransferase activity (GO:0004095)			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	Esophageal squamous(3;3.28e-14)		LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.142)		Glyburide(DB01016)|L-Carnitine(DB00583)|Perhexiline(DB01074)	CTTGTAGTGCGCCAGCTGGAG	0.552																																						ENST00000265641.5																			0				NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						c.(1729-1731)gCg>gTg		carnitine palmitoyltransferase 1A (liver)	L-Carnitine(DB00583)|Perhexiline(DB01074)						69	62	65					11																	68540743		2200	4294	6494	SO:0001583	missense	1374				carnitine shuttle|fatty acid beta-oxidation	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity	g.chr11:68540743G>A	L39211	CCDS8185.1, CCDS31624.1	11q13.2	2007-07-26				ENSG00000110090	2.3.1.21		2328	protein-coding gene	gene with protein product		600528		CPT1		7892212, 9070950	Standard	NM_001876		Approved	CPT1-L, L-CPT1	uc001oog.4	P50416		ENST00000265641.5:c.1730C>T	11.37:g.68540743G>A	ENSP00000265641:p.Ala577Val					CPT1A_ENST00000539743.1_Missense_Mutation_p.A577V|CPT1A_ENST00000540367.1_Missense_Mutation_p.A577V|CPT1A_ENST00000537756.2_5'UTR|CPT1A_ENST00000376618.2_Missense_Mutation_p.A577V	p.A577V	NM_001876.3	NP_001867.2	P50416	CPT1A_HUMAN	LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.142)		14	1884	-	Esophageal squamous(3;3.28e-14)		577					Q8TCU0|Q9BWK0	Missense_Mutation	SNP	ENST00000265641.5	37	c.1730C>T	CCDS8185.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.040182	0.75732	.	.	ENSG00000110090	ENST00000540367;ENST00000376618;ENST00000265641;ENST00000538308;ENST00000539743	D;D;D;D	0.97041	-4.22;-4.22;-4.22;-4.22	4.82	3.9	0.45041	.	0.000000	0.85682	D	0.000000	D	0.98861	0.9615	H	0.96633	3.855	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.65874	0.939;0.937	D	0.99490	1.0950	10	0.87932	D	0	.	14.7635	0.69621	0.0:0.0:0.8543:0.1457	.	577;577	P50416;P50416-2	CPT1A_HUMAN;.	V	577	ENSP00000439084:A577V;ENSP00000365803:A577V;ENSP00000265641:A577V;ENSP00000446108:A577V	ENSP00000265641:A577V	A	-	2	0	CPT1A	68297319	1.000000	0.71417	0.816000	0.32577	0.699000	0.40488	9.398000	0.97281	1.145000	0.42336	0.297000	0.19635	GCG		0.552	CPT1A-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397457.2	NM_001876		9	36	0	0	0	1	0	9	36					A	68540743	G	A	68540743	3	1	381	1	0	0	0	0	1	0	0	0	3831	1087	38	1	655	1	CPT1A	11	68540743	Missense_Mutation	SNP	G	TCGA-V1-A9O5-01A-11D-A41K-08		68540743	66465773	17	18754											
PHC1	1911	broad.mit.edu	37	chr12	9086525	9086525	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	ggaggagagagatgatgtctCcacattgggttcaatgcttc	10	11	13	7	0	2	3	1	1	1	2	4	6	2	4	1	3	1	2	1	3	1	3			TCGA-V1-A9O5-01A-11D-A41K-08	TCGA-V1-A9O5-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b3d6c97-dfa9-4531-b8b6-7d195c52e25b	478f8c5f-260a-4d8a-a4f2-a07a8931f6a1	g.chr12:9086525C>G	ENST00000543824.1	+	10	2290	c.1958C>G	c.(1957-1959)tCc>tGc	p.S653C	PHC1_ENST00000536844.1_Missense_Mutation_p.S259C|PHC1_ENST00000544916.1_Missense_Mutation_p.S653C|PHC1_ENST00000433847.2_3'UTR|PHC1_ENST00000433083.2_Missense_Mutation_p.S608C			P78364	PHC1_HUMAN	polyhomeotic homolog 1 (Drosophila)	653					cellular response to retinoic acid (GO:0071300)|histone ubiquitination (GO:0016574)|multicellular organismal development (GO:0007275)	nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)|sex chromatin (GO:0001739)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(5)|large_intestine(8)|liver(2)|lung(3)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	27						GATGATGTCTCCACATTGGGT	0.468																																						ENST00000433083.2																			0				breast(2)|cervix(1)|endometrium(5)|large_intestine(8)|liver(2)|lung(3)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	27						c.(1822-1824)tCc>tGc		polyhomeotic homolog 1 (Drosophila)							100	92	95					12																	9086525		2203	4297	6500	SO:0001583	missense	1911				multicellular organismal development	PcG protein complex	DNA binding|zinc ion binding	g.chr12:9086525C>G	U89277	CCDS8597.1	12p13	2013-01-10	2006-09-12	2002-11-15	ENSG00000111752	ENSG00000111752		"Sterile alpha motif (SAM) domain containing"	3182	protein-coding gene	gene with protein product		602978	"early development regulator 1 (homolog of polyhomeotic 1)", "polyhomeotic-like 1 (Drosophila)"	EDR1		9121482	Standard	XM_005253334		Approved	HPH1, RAE28	uc001qvd.3	P78364	OTTHUMG00000168275	ENST00000543824.1:c.1958C>G	12.37:g.9086525C>G	ENSP00000440674:p.Ser653Cys					PHC1_ENST00000536844.1_Missense_Mutation_p.S259C|PHC1_ENST00000543824.1_Missense_Mutation_p.S653C|PHC1_ENST00000544916.1_Missense_Mutation_p.S653C|PHC1_ENST00000433847.2_3'UTR	p.S608C			P78364	PHC1_HUMAN			8	1968	+			653					D3DUV4|Q8WVM3|Q9BU63	Missense_Mutation	SNP	ENST00000543824.1	37	c.1823C>G	CCDS8597.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.13|11.13	1.548583|1.548583	0.27652|0.27652	.|.	.|.	ENSG00000111752|ENSG00000111752	ENST00000537610|ENST00000543824;ENST00000251757;ENST00000433083;ENST00000544916;ENST00000536844	.|T;T;T;T;D	.|0.89343	.|1.88;1.88;1.88;1.88;-2.5	5.7|5.7	4.76|4.76	0.60689|0.60689	.|.	.|0.313431	.|0.31589	.|N	.|0.007381	T|T	0.81541|0.81541	0.4844|0.4844	N|N	0.14661|0.14661	0.345|0.345	0.09310|0.09310	N|N	1|1	.|D	.|0.54047	.|0.964	.|B	.|0.43783	.|0.431	T|T	0.77259|0.77259	-0.2654|-0.2654	5|10	.|0.62326	.|D	.|0.03	-7.9945|-7.9945	14.1854|14.1854	0.65603|0.65603	0.0:0.8506:0.1493:0.0|0.0:0.8506:0.1493:0.0	.|.	.|653	.|P78364	.|PHC1_HUMAN	A|C	164|653;653;608;653;259	.|ENSP00000440674:S653C;ENSP00000251757:S653C;ENSP00000399194:S608C;ENSP00000437659:S653C;ENSP00000440488:S259C	.|ENSP00000251757:S653C	P|S	+|+	1|2	0|0	PHC1|PHC1	8977792|8977792	0.021000|0.021000	0.18746|0.18746	0.063000|0.063000	0.19743|0.19743	0.785000|0.785000	0.44390|0.44390	2.999000|2.999000	0.49473|0.49473	2.703000|2.703000	0.92315|0.92315	0.655000|0.655000	0.94253|0.94253	CCA|TCC		0.468	PHC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399115.1	NM_004426		12	37	0	0	0	1	0	12	37					G	9086525	C	G	9086525	3	3	381	1	0	0	0	0	1	0	0	0	11816	855	30	5	1988	5	PHC1	12	9086525	Missense_Mutation	SNP	C	TCGA-V1-A9O5-01A-11D-A41K-08		9086525	124765370	18	18755											
IRAK4	51135	broad.mit.edu	37	chr12	44180481	44180481	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tttttttctttctttttaaaAggttcaacagctgctgcaag	9	19	6	7	0	3	0	1	0	2	0	3	0	3	0	0	1	4	4	0	1	4	8			TCGA-V1-A9O5-01A-11D-A41K-08	TCGA-V1-A9O5-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b3d6c97-dfa9-4531-b8b6-7d195c52e25b	478f8c5f-260a-4d8a-a4f2-a07a8931f6a1	g.chr12:44180481A>G	ENST00000448290.2	+	12	1418		c.e12-1		IRAK4_ENST00000431837.1_Splice_Site|IRAK4_ENST00000440781.2_Splice_Site|IRAK4_ENST00000551736.1_Splice_Site	NM_016123.3	NP_057207.2	Q9NWZ3	IRAK4_HUMAN	interleukin-1 receptor-associated kinase 4						cytokine production (GO:0001816)|cytokine-mediated signaling pathway (GO:0019221)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)	cytosol (GO:0005829)|endosome membrane (GO:0010008)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)					all_cancers(12;0.00149)	Lung NSC(34;0.0804)|all_lung(34;0.181)		GBM - Glioblastoma multiforme(48;0.04)		TCTTTTTAAAAGGTTCAACAG	0.308																																						ENST00000431837.1																			0											c.e11-1		interleukin-1 receptor-associated kinase 4							53	61	59					12																	44180481		2202	4297	6499	SO:0001630	splice_region_variant	51135				innate immune response|MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr12:44180481A>G	AF155118	CCDS8744.1, CCDS44862.1	12q12	2014-09-17				ENSG00000198001			17967	protein-coding gene	gene with protein product		606883				3772297, 10508479	Standard	NM_001114182		Approved	NY-REN-64	uc001rnt.3	Q9NWZ3		ENST00000448290.2:c.1348-1A>G	12.37:g.44180481A>G						IRAK4_ENST00000448290.2_Splice_Site|IRAK4_ENST00000440781.2_Splice_Site|IRAK4_ENST00000551736.1_Splice_Site		NM_001145256.1|NM_001145257.1	NP_001138728.1|NP_001138729.1	Q9NWZ3	IRAK4_HUMAN		GBM - Glioblastoma multiforme(48;0.04)	11	1283	+	all_cancers(12;0.00149)	Lung NSC(34;0.0804)|all_lung(34;0.181)						Q69FE1|Q8TDF7|Q9Y589	Splice_Site	SNP	ENST00000448290.2	37		CCDS8744.1	.	.	.	.	.	.	.	.	.	.	A	17.22	3.334158	0.60853	.	.	ENSG00000198001	ENST00000440781;ENST00000431837;ENST00000448290;ENST00000551736	.	.	.	5.78	5.78	0.91487	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.1215	0.81361	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	IRAK4	42466748	1.000000	0.71417	0.984000	0.44739	0.650000	0.38633	6.540000	0.73861	2.208000	0.71279	0.528000	0.53228	.		0.308	IRAK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403947.1		Intron	4	68	0	0	0	1	0	4	68					G	44180481	A	G	44180481	5	3	381	1	0	0	0	0	0	0	1	0	7825	86	3	4	1388	4	IRAK4	12	44180481	Splice_Site	SNP	A	TCGA-V1-A9O5-01A-11D-A41K-08	35093956	44180481	89671414	19	18756											
IRAK3	11213	broad.mit.edu	37	chr12	66597578	66597578	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tggaacaagagaattactttGgtcctgggcacagaaaaaca	16	8	10	7	0	0	2	0	0	0	2	1	4	1	3	1	3	3	1	1	3	6	2	rs561056770		TCGA-V1-A9O5-01A-11D-A41K-08	TCGA-V1-A9O5-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b3d6c97-dfa9-4531-b8b6-7d195c52e25b	478f8c5f-260a-4d8a-a4f2-a07a8931f6a1	g.chr12:66597578G>T	ENST00000261233.4	+	2	642	c.221G>T	c.(220-222)tGg>tTg	p.W74L	IRAK3_ENST00000457197.2_Intron	NM_007199.2	NP_009130.2			interleukin-1 receptor-associated kinase 3											breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(28;0.0203)		GAATTACTTTGGTCCTGGGCA	0.423																																						ENST00000261233.4																			0				breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	36						c.(220-222)tGg>tTg		interleukin-1 receptor-associated kinase 3							108	102	104					12																	66597578		2203	4300	6503	SO:0001583	missense	0				interleukin-1-mediated signaling pathway|MyD88-dependent toll-like receptor signaling pathway|negative regulation of innate immune response|negative regulation of interleukin-12 production|negative regulation of interleukin-6 production|negative regulation of macrophage cytokine production|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein catabolic process|negative regulation of protein complex disassembly|negative regulation of toll-like receptor signaling pathway|negative regulation of tumor necrosis factor production|positive regulation of macrophage tolerance induction|positive regulation of NF-kappaB transcription factor activity|response to exogenous dsRNA|response to lipopolysaccharide|response to peptidoglycan	cytoplasm|nucleus	ATP binding|magnesium ion binding|protein heterodimerization activity|protein homodimerization activity|protein serine/threonine kinase activity	g.chr12:66597578G>T	AF113136	CCDS8975.1, CCDS44937.1	12q13.13	2008-05-02			ENSG00000090376	ENSG00000090376			17020	protein-coding gene	gene with protein product		604459				10383454	Standard	NM_001142523		Approved	IRAK-M	uc001sth.3	Q9Y616	OTTHUMG00000169002	ENST00000261233.4:c.221G>T	12.37:g.66597578G>T	ENSP00000261233:p.Trp74Leu					IRAK3_ENST00000457197.2_Intron	p.W74L	NM_007199.2	NP_009130.2	Q9Y616	IRAK3_HUMAN		GBM - Glioblastoma multiforme(28;0.0203)	2	642	+			74			Death.			Missense_Mutation	SNP	ENST00000261233.4	37	c.221G>T	CCDS8975.1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.446097	0.84101	.	.	ENSG00000090376	ENST00000261233	D	0.84800	-1.9	5.93	5.93	0.95920	Death (3);DEATH-like (2);	0.000000	0.85682	D	0.000000	D	0.90590	0.7050	L	0.56769	1.78	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.89284	0.3614	9	.	.	.	-10.6	15.8335	0.78778	0.0:0.0:1.0:0.0	.	74	Q9Y616	IRAK3_HUMAN	L	74	ENSP00000261233:W74L	.	W	+	2	0	IRAK3	64883845	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	5.613000	0.67688	2.818000	0.97014	0.591000	0.81541	TGG		0.423	IRAK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401908.1			17	68	1	0	1.01871e-10	1	1.21378e-10	17	68					T	66597578	G	T	66597578	3	4	381	1	0	0	0	0	1	0	0	0	7824	1357	47	5	227	5	IRAK3	12	66597578	Missense_Mutation	SNP	G	TCGA-V1-A9O5-01A-11D-A41K-08	22417097	66597578	67254317	20	18757											
KDM2B	84678	broad.mit.edu	37	chr12	121880545	121880545	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctccctggtcttggggggcGcctcgggcagttcgtcctcg	1	11	15	14	4	2	0	0	0	2	0	7	0	3	0	3	5	0	2	3	5	0	2			TCGA-V1-A9O5-01A-11D-A41K-08	TCGA-V1-A9O5-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b3d6c97-dfa9-4531-b8b6-7d195c52e25b	478f8c5f-260a-4d8a-a4f2-a07a8931f6a1	g.chr12:121880545G>A	ENST00000377071.4	-	19	2771	c.2699C>T	c.(2698-2700)gCg>gTg	p.A900V	KDM2B_ENST00000536437.1_Intron|KDM2B_ENST00000542973.1_Missense_Mutation_p.A268V|KDM2B_ENST00000377069.4_Missense_Mutation_p.A831V	NM_032590.4	NP_115979.3	Q8NHM5	KDM2B_HUMAN	lysine (K)-specific demethylase 2B	900					embryonic camera-type eye morphogenesis (GO:0048596)|forebrain development (GO:0030900)|fourth ventricle development (GO:0021592)|hindbrain development (GO:0030902)|histone demethylation (GO:0016577)|histone H2A monoubiquitination (GO:0035518)|initiation of neural tube closure (GO:0021993)|lateral ventricle development (GO:0021670)|midbrain development (GO:0030901)|midbrain-hindbrain boundary morphogenesis (GO:0021555)|negative regulation of neural precursor cell proliferation (GO:2000178)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|spermatogenesis (GO:0007283)|third ventricle development (GO:0021678)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone demethylase activity (GO:0032452)|histone demethylase activity (H3-K36 specific) (GO:0051864)|rRNA binding (GO:0019843)|zinc ion binding (GO:0008270)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	19						CTTGGGGGGCGCCTCGGGCAG	0.706																																						ENST00000377069.4																			0				breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	19						c.(2491-2493)gCg>gTg		lysine (K)-specific demethylase 2B							10	11	11					12																	121880545		1877	4062	5939	SO:0001583	missense	84678				embryonic camera-type eye morphogenesis|fourth ventricle development|histone H2A monoubiquitination|initiation of neural tube closure|lateral ventricle development|midbrain development|midbrain-hindbrain boundary morphogenesis|negative regulation of neural precursor cell proliferation|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|spermatogenesis|third ventricle development|transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|rRNA binding|zinc ion binding	g.chr12:121880545G>A	AJ459424	CCDS41849.1, CCDS41850.1	12q24.31	2014-02-18	2009-04-06	2009-04-06	ENSG00000089094	ENSG00000089094		"F-boxes / Leucine-rich repeats", "Chromatin-modifying enzymes / K-demethylases"	13610	protein-coding gene	gene with protein product	"jumonji C domain-containing histone demethylase 1B"	609078	"F-box and leucine-rich repeat protein 10"	FBXL10		10799292	Standard	NM_032590		Approved	PCCX2, CXXC2, Fbl10, JHDM1B	uc001uat.3	Q8NHM5	OTTHUMG00000169071	ENST00000377071.4:c.2699C>T	12.37:g.121880545G>A	ENSP00000366271:p.Ala900Val					KDM2B_ENST00000536437.1_Intron|KDM2B_ENST00000377071.4_Missense_Mutation_p.A900V|KDM2B_ENST00000542973.1_Missense_Mutation_p.A268V	p.A831V	NM_001005366.1	NP_001005366.1	Q8NHM5	KDM2B_HUMAN			18	2898	-			900					A8MRS1|Q8NCI2|Q96HC7|Q96SL0|Q96T03|Q9NS96|Q9UF75	Missense_Mutation	SNP	ENST00000377071.4	37	c.2492C>T	CCDS41850.1	.	.	.	.	.	.	.	.	.	.	G	14.98	2.696813	0.48202	.	.	ENSG00000089094	ENST00000397480;ENST00000542973;ENST00000377069;ENST00000377071;ENST00000540043;ENST00000261824	T;T;T	0.25579	2.12;2.45;1.79	5.97	5.08	0.68730	.	0.824585	0.10543	N	0.662465	T	0.20901	0.0503	L	0.50333	1.59	0.80722	D	1	P;B;B;B	0.43352	0.804;0.001;0.001;0.0	B;B;B;B	0.28553	0.091;0.001;0.001;0.001	T	0.04885	-1.0920	10	0.48119	T	0.1	-19.8815	10.5991	0.45356	0.0681:0.0:0.7989:0.133	.	340;900;831;343	B7ZB05;Q8NHM5;A8MRS1;B4DSN4	.;KDM2B_HUMAN;.;.	V	888;268;831;900;343;903	ENSP00000437821:A268V;ENSP00000366269:A831V;ENSP00000366271:A900V	ENSP00000261824:A903V	A	-	2	0	KDM2B	120364928	1.000000	0.71417	0.876000	0.34364	0.163000	0.22366	2.614000	0.46359	1.541000	0.49316	0.655000	0.94253	GCG		0.706	KDM2B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000402132.2	NM_032590		8	12	0	0	0	1	0	8	12					A	121880545	G	A	121880545	3	1	381	1	0	0	0	0	1	0	0	0	8125	1087	38	1	1383	1	KDM2B	12	121880545	Missense_Mutation	SNP	G	TCGA-V1-A9O5-01A-11D-A41K-08	55282967	121880545	11971350	21	18758											
IPO4	79711	broad.mit.edu	37	chr14	24651222	24651222	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cccgaagatggcattgcttcGcacctcggggtctgcctctt	5	11	11	14	3	2	1	0	0	2	1	4	2	2	1	3	3	2	3	3	3	1	3			TCGA-V1-A9O5-01A-11D-A41K-08	TCGA-V1-A9O5-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b3d6c97-dfa9-4531-b8b6-7d195c52e25b	478f8c5f-260a-4d8a-a4f2-a07a8931f6a1	g.chr14:24651222G>A	ENST00000354464.6	-	26	2922	c.2746C>T	c.(2746-2748)Cga>Tga	p.R916*	RP11-468E2.2_ENST00000561419.1_3'UTR	NM_024658.3	NP_078934.3	Q8TEX9	IPO4_HUMAN	importin 4	916					DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|intracellular protein transport (GO:0006886)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|protein complex (GO:0043234)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(10)|ovary(1)|stomach(2)|urinary_tract(1)	33				GBM - Glioblastoma multiforme(265;0.0087)		GCATTGCTTCGCACCTCGGGG	0.647																																						ENST00000354464.6																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(10)|ovary(1)|stomach(2)|urinary_tract(1)	33						c.(2746-2748)Cga>Tga		importin 4							40	46	44					14																	24651222		2073	4193	6266	SO:0001587	stop_gained	79711				intracellular protein transport	cytoplasm|nucleus	protein binding|protein transporter activity	g.chr14:24651222G>A	AF411122	CCDS9616.1	14q11.2	2003-03-10			ENSG00000196497	ENSG00000196497		"Importins"	19426	protein-coding gene	gene with protein product						11823430	Standard	NR_051979		Approved	Imp4, FLJ23338	uc001wmv.1	Q8TEX9	OTTHUMG00000028801	ENST00000354464.6:c.2746C>T	14.37:g.24651222G>A	ENSP00000346453:p.Arg916*					RP11-468E2.2_ENST00000561419.1_3'UTR	p.R916*	NM_024658.3	NP_078934.3	Q8TEX9	IPO4_HUMAN		GBM - Glioblastoma multiforme(265;0.0087)	26	2922	-			916					B2RN95|Q2NL96|Q86TZ9|Q8NCG8|Q96SJ3|Q9BTI4|Q9H5L0	Nonsense_Mutation	SNP	ENST00000354464.6	37	c.2746C>T	CCDS9616.1	.	.	.	.	.	.	.	.	.	.	G	27.4	4.832201	0.91036	.	.	ENSG00000196497	ENST00000354464;ENST00000399536	.	.	.	5.84	4.95	0.65309	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-26.3718	11.5134	0.50507	0.0834:0.0:0.9166:0.0	.	.	.	.	X	916;592	.	ENSP00000346453:R916X	R	-	1	2	IPO4	23721062	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	4.472000	0.60189	2.769000	0.95229	0.563000	0.77884	CGA		0.647	IPO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071931.4	NM_024658		10	31	0	0	0	1	0	10	31					A	24651222	G	A	24651222	4	1	381	1	0	0	0	0	0	1	0	0	7795	1095	38	1	519	1	IPO4	14	24651222	Nonsense_Mutation	SNP	G	TCGA-V1-A9O5-01A-11D-A41K-08		24651222	82698318	22	18759											
STRN3	29966	broad.mit.edu	37	chr14	31364637	31364637	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcatacaaatactttggcaaGagcatcagctcctgcactag	13	10	7	11	0	2	1	2	0	0	1	3	1	3	1	1	1	5	4	1	1	5	4	rs369078041		TCGA-V1-A9O5-01A-11D-A41K-08	TCGA-V1-A9O5-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b3d6c97-dfa9-4531-b8b6-7d195c52e25b	478f8c5f-260a-4d8a-a4f2-a07a8931f6a1	g.chr14:31364637G>T	ENST00000357479.5	-	18	2570	c.2374C>A	c.(2374-2376)Ctt>Att	p.L792I	STRN3_ENST00000355683.5_Missense_Mutation_p.L708I	NM_001083893.1	NP_001077362.1	Q13033	STRN3_HUMAN	striatin, calmodulin binding protein 3	792					negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to estradiol (GO:0032355)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|Golgi apparatus (GO:0005794)|neuronal cell body (GO:0043025)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	armadillo repeat domain binding (GO:0070016)|calmodulin binding (GO:0005516)|protein complex binding (GO:0032403)|protein phosphatase 2A binding (GO:0051721)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20	Hepatocellular(127;0.0877)|Breast(36;0.148)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)|BRCA - Breast invasive adenocarcinoma(188;0.0805)	GBM - Glioblastoma multiforme(265;0.0124)		ACTTTGGCAAGAGCATCAGCT	0.388																																						ENST00000355683.5																			0				NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20						c.(2122-2124)Ctt>Att		striatin, calmodulin binding protein 3							81	69	73					14																	31364637		2203	4300	6503	SO:0001583	missense	29966				negative regulation of estrogen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|response to estradiol stimulus	cytoplasm|dendrite|Golgi apparatus|neuronal cell body|nucleoplasm|nucleus|plasma membrane|protein complex	armadillo repeat domain binding|calmodulin binding|protein complex binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity	g.chr14:31364637G>T		CCDS9641.1, CCDS41938.1	14q13-q21	2013-01-10			ENSG00000196792	ENSG00000196792		"WD repeat domain containing"	15720	protein-coding gene	gene with protein product	"cell cycle S/G2 nuclear autoantigen"	614766				7864889, 10681496	Standard	NM_014574		Approved	SG2NA	uc001wqu.2	Q13033	OTTHUMG00000140201	ENST00000357479.5:c.2374C>A	14.37:g.31364637G>T	ENSP00000350071:p.Leu792Ile					STRN3_ENST00000357479.5_Missense_Mutation_p.L792I	p.L708I	NM_014574.3	NP_055389.3	Q13033	STRN3_HUMAN	LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)|BRCA - Breast invasive adenocarcinoma(188;0.0805)	GBM - Glioblastoma multiforme(265;0.0124)	16	2337	-	Hepatocellular(127;0.0877)|Breast(36;0.148)		792					A2RTX7|A6NHZ7|Q9NRA5	Missense_Mutation	SNP	ENST00000357479.5	37	c.2122C>A	CCDS41938.1	.	.	.	.	.	.	.	.	.	.	G	29.4	5.000378	0.93227	.	.	ENSG00000196792	ENST00000355683;ENST00000357479	D;D	0.81499	-1.5;-1.5	5.51	5.51	0.81932	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.87529	0.6200	L	0.52266	1.64	0.80722	D	1	B;D	0.63880	0.207;0.993	B;D	0.70016	0.413;0.967	D	0.87667	0.2538	10	0.59425	D	0.04	-21.5326	19.43	0.94760	0.0:0.0:1.0:0.0	.	708;792	Q13033-2;Q13033	.;STRN3_HUMAN	I	708;792	ENSP00000347909:L708I;ENSP00000350071:L792I	ENSP00000347909:L708I	L	-	1	0	STRN3	30434388	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.814000	0.99346	2.589000	0.87451	0.591000	0.81541	CTT		0.388	STRN3-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409713.1	NM_014574		13	21	1	0	1.49906e-05	1	1.64603e-05	13	21					T	31364637	G	T	31364637	3	4	381	1	0	0	0	0	1	0	0	0	15329	942	33	5	23	5	STRN3	14	31364637	Missense_Mutation	SNP	G	TCGA-V1-A9O5-01A-11D-A41K-08	6713415	31364637	75984903	23	18760											
TTC7B	145567	broad.mit.edu	37	chr14	91252588	91252588	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcagctggggcttggggcctCggggactggccccctgcctc	2	8	16	15	1	1	0	1	0	0	0	3	1	1	1	4	7	2	2	4	7	0	1	rs538272204		TCGA-V1-A9O5-01A-11D-A41K-08	TCGA-V1-A9O5-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b3d6c97-dfa9-4531-b8b6-7d195c52e25b	478f8c5f-260a-4d8a-a4f2-a07a8931f6a1	g.chr14:91252588C>T	ENST00000328459.6	-	2	327	c.206G>A	c.(205-207)cGa>cAa	p.R69Q	TTC7B_ENST00000357056.2_Missense_Mutation_p.R69Q	NM_001010854.1	NP_001010854.1	Q86TV6	TTC7B_HUMAN	tetratricopeptide repeat domain 7B	69										NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	36		Melanoma(154;0.222)				CTTGGGGCCTCGGGGACTGGC	0.622													C|||	1	0.000199681	0	0	5008	,	,		17430	0		0	False		,,,				2504	0.001					ENST00000357056.2																			0				NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	36						c.(205-207)cGa>cAa		tetratricopeptide repeat domain 7B							40	45	43					14																	91252588		2203	4300	6503	SO:0001583	missense	145567						binding	g.chr14:91252588C>T	BC035865	CCDS32140.1	14q32.12	2013-01-11	2004-06-02	2004-06-04		ENSG00000165914		"Tetratricopeptide (TTC) repeat domain containing"	19858	protein-coding gene	gene with protein product			"tetratricopeptide repeat domain 7 like 1"	TTC7L1			Standard	XM_005267367		Approved		uc001xyp.3	Q86TV6		ENST00000328459.6:c.206G>A	14.37:g.91252588C>T	ENSP00000336127:p.Arg69Gln					TTC7B_ENST00000328459.6_Missense_Mutation_p.R69Q	p.R69Q			Q86TV6	TTC7B_HUMAN			2	327	-		Melanoma(154;0.222)	69					Q86U24|Q86VT3	Missense_Mutation	SNP	ENST00000328459.6	37	c.206G>A	CCDS32140.1	.	.	.	.	.	.	.	.	.	.	C	14.66	2.602859	0.46423	.	.	ENSG00000165914	ENST00000357056;ENST00000328459	T;T	0.36699	1.93;1.24	5.41	5.41	0.78517	.	0.000000	0.64402	D	0.000004	T	0.26521	0.0648	L	0.40543	1.245	0.47094	D	0.999315	B	0.31040	0.305	B	0.22753	0.041	T	0.05716	-1.0868	10	0.13470	T	0.59	-2.7211	13.4993	0.61445	0.0:0.9251:0.0:0.0749	.	69	Q86TV6	TTC7B_HUMAN	Q	69	ENSP00000349564:R69Q;ENSP00000336127:R69Q	ENSP00000336127:R69Q	R	-	2	0	TTC7B	90322341	0.998000	0.40836	0.993000	0.49108	0.956000	0.61745	2.862000	0.48388	2.511000	0.84671	0.655000	0.94253	CGA		0.622	TTC7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411364.2			11	33	0	0	0	1	0	11	33					T	91252588	C	T	91252588	3	4	381	1	0	0	0	0	1	0	0	0	16710	884	31	2	2401	2	TTC7B	14	91252588	Missense_Mutation	SNP	C	TCGA-V1-A9O5-01A-11D-A41K-08	59887951	91252588	16096952	24	18761											
FMN1	342184	broad.mit.edu	37	chr15	33202701	33202701	+	Frame_Shift_Del	DEL	C	C	-																															atataaggctgccagggtctCcagatcaaccacggagtcat																										TCGA-V1-A9O5-01A-11D-A41K-08	TCGA-V1-A9O5-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b3d6c97-dfa9-4531-b8b6-7d195c52e25b	478f8c5f-260a-4d8a-a4f2-a07a8931f6a1	g.chr15:33202701delC	ENST00000559047.1	-	8	3261	c.3262delG	c.(3262-3264)gagfs	p.E1088fs	FMN1_ENST00000334528.9_Frame_Shift_Del_p.E865fs|FMN1_ENST00000561249.1_Frame_Shift_Del_p.E990fs			Q68DA7	FMN1_HUMAN	formin 1	1088	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.				actin nucleation (GO:0045010)	actin filament (GO:0005884)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|upper_aerodigestive_tract(3)	29		all_lung(180;1.14e-07)		all cancers(64;3.05e-15)|Epithelial(43;1.67e-10)|GBM - Glioblastoma multiforme(186;4.95e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0262)		GCCAGGGTCTCCAGATCAACC	0.428																																						ENST00000334528.9																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|upper_aerodigestive_tract(3)	29						c.(2593-2595)agfs		formin 1							54	53	53					15																	33202701		1891	4118	6009	SO:0001589	frameshift_variant	342184				actin cytoskeleton organization	actin cytoskeleton|adherens junction|cytoplasm|nucleus	actin binding	g.chr15:33202701delC	AH002864	CCDS45209.1, CCDS61581.1, CCDS61582.1	15q13.3	2013-06-13	2005-01-20	2005-01-22	ENSG00000248905	ENSG00000248905			3768	protein-coding gene	gene with protein product	"limb deformity protein"	136535	"formin (limb deformity)"	LD, FMN		1673046	Standard	NM_001277313		Approved	DKFZP686C2281, FLJ45135, MGC125288, MGC125289	uc031qrh.1	Q68DA7	OTTHUMG00000172201	ENST00000559047.1:c.3262delG	15.37:g.33202701delC	ENSP00000454047:p.Glu1088fs					FMN1_ENST00000561249.1_Frame_Shift_Del_p.E990fs|FMN1_ENST00000559047.1_Frame_Shift_Del_p.E1088fs	p.E865fs	NM_001103184.2	NP_001096654.1	Q68DA7	FMN1_HUMAN		all cancers(64;3.05e-15)|Epithelial(43;1.67e-10)|GBM - Glioblastoma multiforme(186;4.95e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0262)	7	2592	-		all_lung(180;1.14e-07)	1088					Q3B7I6|Q3ZAR4|Q6ZSY1	Frame_Shift_Del	DEL	ENST00000559047.1	37	c.2593delG																																																																																					0.428	FMN1-005	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000417414.1	NM_001103184		2	4						2	4	---	---	---	---	-	33202701	C	-	33202701	7	5	381	1	0	1	0	1	0	0	0	0	5949	864	30	0	1041	0	FMN1	15	33202701	Frame_Shift_Del	DEL	C	TCGA-V1-A9O5-01A-11D-A41K-08		33202701	69328691	25	18762											
SHC4	399694	broad.mit.edu	37	chr15	49254974	49254974	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tcaaggtgcacagtggggtgGggctctcctgcgacggcaag	7	7	17	10	2	2	0	1	0	1	0	3	1	2	0	1	6	2	3	1	6	2	0	rs144103856	byFrequency	TCGA-V1-A9O5-01A-11D-A41K-08	TCGA-V1-A9O5-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b3d6c97-dfa9-4531-b8b6-7d195c52e25b	478f8c5f-260a-4d8a-a4f2-a07a8931f6a1	g.chr15:49254974G>A	ENST00000332408.4	-	1	667	c.239C>T	c.(238-240)cCc>cTc	p.P80L		NM_203349.3	NP_976224.3	Q6S5L8	SHC4_HUMAN	SHC (Src homology 2 domain containing) family, member 4	80	CH2.				apoptotic process (GO:0006915)|intracellular signal transduction (GO:0035556)|positive regulation of cell proliferation (GO:0008284)|regulation of gene expression (GO:0010468)|stem cell differentiation (GO:0048863)	cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)				breast(1)|endometrium(2)|large_intestine(8)|lung(11)|ovary(3)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)	29		all_lung(180;0.00466)		all cancers(107;9.4e-08)|GBM - Glioblastoma multiforme(94;5.94e-07)		CAGTGGGGTGGGGCTCTCCTG	0.637													G|||	2	0.000399361	0.0015	0	5008	,	,		15152	0		0	False		,,,				2504	0					ENST00000332408.4																			0				breast(1)|endometrium(2)|large_intestine(8)|lung(11)|ovary(3)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)	29						c.(238-240)cCc>cTc		SHC (Src homology 2 domain containing) family, member 4		G	LEU/PRO	9,4383		0,9,2187	42	45	44		239	4.9	1	15	dbSNP_134	44	0,8590		0,0,4295	yes	missense	SHC4	NM_203349.3	98	0,9,6482	AA,AG,GG		0.0,0.2049,0.0693	benign	80/631	49254974	9,12973	2196	4295	6491	SO:0001583	missense	399694				intracellular signal transduction	cell junction|postsynaptic membrane		g.chr15:49254974G>A	AY358250	CCDS10130.1	15q21.1-q21.2	2013-02-14			ENSG00000185634	ENSG00000185634		"SH2 domain containing"	16743	protein-coding gene	gene with protein product	"rai-like protein"						Standard	NM_203349		Approved	RaLP	uc001zxb.1	Q6S5L8	OTTHUMG00000131513	ENST00000332408.4:c.239C>T	15.37:g.49254974G>A	ENSP00000329668:p.Pro80Leu						p.P80L	NM_203349.3	NP_976224.3	Q6S5L8	SHC4_HUMAN		all cancers(107;9.4e-08)|GBM - Glioblastoma multiforme(94;5.94e-07)	1	667	-		all_lung(180;0.00466)	80			CH2.		Q6UXQ3|Q8IYW3	Missense_Mutation	SNP	ENST00000332408.4	37	c.239C>T	CCDS10130.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	14.49	2.549982	0.45383	0.002049	0.0	ENSG00000185634	ENST00000332408	T	0.52983	0.64	4.91	4.91	0.64330	.	0.096189	0.45606	D	0.000350	T	0.44095	0.1277	M	0.67397	2.05	0.80722	D	1	P	0.49090	0.919	B	0.35859	0.212	T	0.56547	-0.7961	10	0.72032	D	0.01	-13.4429	14.6827	0.69028	0.0:0.1459:0.8541:0.0	.	80	Q6S5L8	SHC4_HUMAN	L	80	ENSP00000329668:P80L	ENSP00000329668:P80L	P	-	2	0	SHC4	47042266	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	3.808000	0.55598	2.543000	0.85770	0.655000	0.94253	CCC		0.637	SHC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254371.1	NM_203349		5	83	0	0	0	1	0	5	83					A	49254974	G	A	49254974	3	1	381	1	0	0	0	0	1	0	0	0	14273	1232	43	3	1701	3	SHC4	15	49254974	Missense_Mutation	SNP	G	TCGA-V1-A9O5-01A-11D-A41K-08	16052273	49254974	53276418	26	18763											
TP53	7157	broad.mit.edu	37	chr17	7577566	7577566	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gccgcccatgcaggaactgtTacacatgtagttgtagtgga	10	10	12	9	1	0	0	0	0	0	0	0	2	0	2	2	2	3	5	2	2	4	4			TCGA-V1-A9O5-01A-11D-A41K-08	TCGA-V1-A9O5-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b3d6c97-dfa9-4531-b8b6-7d195c52e25b	478f8c5f-260a-4d8a-a4f2-a07a8931f6a1	g.chr17:7577566T>C	ENST00000269305.4	-	7	904	c.715A>G	c.(715-717)Aac>Gac	p.N239D	TP53_ENST00000420246.2_Missense_Mutation_p.N239D|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Missense_Mutation_p.N239D|TP53_ENST00000445888.2_Missense_Mutation_p.N239D|TP53_ENST00000359597.4_Missense_Mutation_p.N239D|TP53_ENST00000413465.2_Missense_Mutation_p.N239D	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	239	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		N -> D (in sporadic cancers; somatic mutation).|N -> H (in a sporadic cancer; somatic mutation).|N -> I (in a sporadic cancer; somatic mutation).|N -> K (in sporadic cancers; somatic mutation).|N -> S (in sporadic cancers; somatic mutation).|N -> T (in sporadic cancers; somatic mutation).|N -> Y (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.N239D(33)|p.N239fs*25(12)|p.0?(8)|p.N239Y(6)|p.N239fs*1(5)|p.?(5)|p.M237_N239delMCN(4)|p.N239_C242delNSSC(3)|p.N239fs*8(2)|p.N239_S240delNS(2)|p.N239fs*26(1)|p.N146D(1)|p.N146fs*1(1)|p.Y236_M243delYMCNSSCM(1)|p.V225fs*23(1)|p.N239fs*6(1)|p.N239fs*4(1)|p.C238_N239insX(1)|p.C238_M246delCNSSCMGGM(1)|p.M144_N146delMCN(1)|p.C238fs*21(1)|p.H233fs*6(1)|p.N239*(1)|p.H233_C242del10(1)|p.N239_C242del(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	CAGGAACTGTTACACATGTAG	0.572		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"Mis, N, F"	tumor protein p53			"L, E, M, O"		"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"	"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"		95	Substitution - Missense(40)|Insertion - Frameshift(18)|Deletion - In frame(14)|Whole gene deletion(8)|Deletion - Frameshift(7)|Unknown(5)|Substitution - Nonsense(1)|Complex - frameshift(1)|Insertion - In frame(1)	p.N239D(33)|p.N239fs*25(12)|p.0?(8)|p.N239Y(6)|p.N239fs*1(5)|p.?(5)|p.M237_N239delMCN(4)|p.N239_C242delNSSC(3)|p.N239fs*8(2)|p.N239_S240delNS(2)|p.N239fs*26(1)|p.N146D(1)|p.N146fs*1(1)|p.Y236_M243delYMCNSSCM(1)|p.V225fs*23(1)|p.N239fs*6(1)|p.N239fs*4(1)|p.C238_N239insX(1)|p.C238_M246delCNSSCMGGM(1)|p.M144_N146delMCN(1)|p.C238fs*21(1)|p.H233fs*6(1)|p.N239*(1)|p.H233_C242del10(1)|p.N239_C242del(1)	ovary(14)|oesophagus(11)|haematopoietic_and_lymphoid_tissue(10)|biliary_tract(7)|central_nervous_system(7)|large_intestine(7)|lung(7)|breast(6)|upper_aerodigestive_tract(5)|endometrium(5)|bone(5)|urinary_tract(4)|stomach(3)|prostate(2)|liver(1)|pancreas(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185						c.(715-717)Aac>Gac	Other conserved DNA damage response genes	tumor protein p53							133	104	114					17																	7577566		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577566T>C	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"Li-Fraumeni syndrome"	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.715A>G	17.37:g.7577566T>C	ENSP00000269305:p.Asn239Asp	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_ENST00000269305.4_Missense_Mutation_p.N239D|TP53_ENST00000455263.2_Missense_Mutation_p.N239D|TP53_ENST00000413465.2_Missense_Mutation_p.N239D|TP53_ENST00000359597.4_Missense_Mutation_p.N239D|TP53_ENST00000445888.2_Missense_Mutation_p.N239D	p.N239D	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	7	847	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	239		N -> D (in sporadic cancers; somatic mutation).|N -> H (in a sporadic cancer; somatic mutation).|N -> I (in a sporadic cancer; somatic mutation).|N -> K (in sporadic cancers; somatic mutation).|N -> S (in sporadic cancers; somatic mutation).|N -> T (in sporadic cancers; somatic mutation).|N -> Y (in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.715A>G	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	T	24.7	4.564934	0.86439	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99748	-6.62;-6.62;-6.62;-6.62;-6.62;-6.62;-6.62;-6.62	4.09	4.09	0.47781	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99648	0.9870	M	0.87381	2.88	0.58432	D	0.99999	D;D;D;D;D;D	0.89917	0.999;0.972;0.999;0.999;0.999;1.0	D;P;D;D;D;D	0.91635	0.993;0.803;0.998;0.993;0.996;0.999	D	0.97636	1.0145	10	0.87932	D	0	-35.9081	11.6823	0.51466	0.0:0.0:0.0:1.0	.	239;239;146;239;239;239	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	D	239;239;239;239;239;239;228;146;107;146	ENSP00000410739:N239D;ENSP00000352610:N239D;ENSP00000269305:N239D;ENSP00000398846:N239D;ENSP00000391127:N239D;ENSP00000391478:N239D;ENSP00000425104:N107D;ENSP00000423862:N146D	ENSP00000269305:N239D	N	-	1	0	TP53	7518291	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.770000	0.85390	2.074000	0.62210	0.379000	0.24179	AAC		0.572	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		29	33	0	0	0	1	0	29	33					C	7577566	T	C	7577566	3	2	381	1	0	0	0	0	1	0	0	0	16378	1754	61	4	575	4	TP53	17	7577566	Missense_Mutation	SNP	T	TCGA-V1-A9O5-01A-11D-A41K-08		7577566	73617644	27	18764											
NF1	4763	broad.mit.edu	37	chr17	29490363	29490363	+	Frame_Shift_Del	DEL	T	T	-																															tttctctcagctgcaacaacTtcaatgcagtctttagtcgc																										TCGA-V1-A9O5-01A-11D-A41K-08	TCGA-V1-A9O5-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b3d6c97-dfa9-4531-b8b6-7d195c52e25b	478f8c5f-260a-4d8a-a4f2-a07a8931f6a1	g.chr17:29490363delT	ENST00000358273.4	+	4	831	c.448delT	c.(448-450)ttcfs	p.F150fs	NF1_ENST00000356175.3_Frame_Shift_Del_p.F150fs|NF1_ENST00000431387.4_Frame_Shift_Del_p.F150fs	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	150					actin cytoskeleton organization (GO:0030036)|adrenal gland development (GO:0030325)|artery morphogenesis (GO:0048844)|brain development (GO:0007420)|camera-type eye morphogenesis (GO:0048593)|cell communication (GO:0007154)|cerebral cortex development (GO:0021987)|cognition (GO:0050890)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|forebrain astrocyte development (GO:0021897)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|liver development (GO:0001889)|MAPK cascade (GO:0000165)|metanephros development (GO:0001656)|myelination in peripheral nervous system (GO:0022011)|negative regulation of angiogenesis (GO:0016525)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of neurotransmitter secretion (GO:0046929)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of transcription factor import into nucleus (GO:0042992)|neural tube development (GO:0021915)|osteoblast differentiation (GO:0001649)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|pigmentation (GO:0043473)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of bone resorption (GO:0045124)|regulation of cell-matrix adhesion (GO:0001952)|regulation of glial cell differentiation (GO:0045685)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of Ras GTPase activity (GO:0032318)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to hypoxia (GO:0001666)|Schwann cell development (GO:0014044)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|visual learning (GO:0008542)|wound healing (GO:0042060)	axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)|nucleus (GO:0005634)	phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|Ras GTPase activator activity (GO:0005099)	p.0?(8)|p.?(4)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		CTGCAACAACTTCAATGCAGT	0.398			"D, Mis, N, F, S, O"		"neurofibroma, glioma"	"neurofibroma, glioma"			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)																												ENST00000358273.4			yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	"D, Mis, N, F, S, O"	neurofibromatosis type 1 gene			O		"neurofibroma, glioma"	"neurofibroma, glioma"	NF1/ACCN1(2)	12	Whole gene deletion(8)|Unknown(4)	p.0?(8)|p.?(4)	soft_tissue(7)|autonomic_ganglia(3)|central_nervous_system(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599						c.(448-450)tcfs		neurofibromin 1							59	58	59					17																	29490363		2203	4300	6503	SO:0001589	frameshift_variant	4763	Neurofibromatosis, type 1	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome	actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	g.chr17:29490363delT		CCDS11264.1, CCDS42292.1, CCDS45645.1	17q11.2	2014-09-17	2008-07-31		ENSG00000196712	ENSG00000196712			7765	protein-coding gene	gene with protein product	"neurofibromatosis", "von Recklinghausen disease", "Watson disease"	613113				1715669	Standard	NM_000267		Approved		uc002hgg.3	P21359	OTTHUMG00000132871	ENST00000358273.4:c.448delT	17.37:g.29490363delT	ENSP00000351015:p.Phe150fs	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)				NF1_ENST00000356175.3_Frame_Shift_Del_p.F150fs|NF1_ENST00000431387.4_Frame_Shift_Del_p.F150fs	p.F150fs	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)	4	831	+		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)	150					O00662|Q14284|Q14930|Q14931|Q9UMK3	Frame_Shift_Del	DEL	ENST00000358273.4	37	c.448delT	CCDS42292.1																																																																																				0.398	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256351.2	NM_000267		15	61						15	61	---	---	---	---	-	29490363	T	-	29490363	7	5	381	1	0	1	0	1	0	0	0	0	10356	1609	56	0	462	0	NF1	17	29490363	Frame_Shift_Del	DEL	T	TCGA-V1-A9O5-01A-11D-A41K-08	21912797	29490363	51704847	28	18765											
PPP1R1B	84152	broad.mit.edu	37	chr17	37792097	37792097	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gaggaacctcagcgcccttcCccctctgagcctggcacata	8	7	9	17	1	2	1	1	1	1	0	3	3	3	2	5	2	3	1	5	2	2	2			TCGA-V1-A9O5-01A-11D-A41K-08	TCGA-V1-A9O5-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b3d6c97-dfa9-4531-b8b6-7d195c52e25b	478f8c5f-260a-4d8a-a4f2-a07a8931f6a1	g.chr17:37792097C>A	ENST00000254079.4	+	7	1063	c.594C>A	c.(592-594)tcC>tcA	p.S198S	STARD3_ENST00000544210.2_5'Flank|PPP1R1B_ENST00000394265.1_Silent_p.S162S|PPP1R1B_ENST00000579000.1_Silent_p.S165S|STARD3_ENST00000580611.1_5'Flank|STARD3_ENST00000394250.4_5'Flank|PPP1R1B_ENST00000580825.1_Silent_p.S198S|STARD3_ENST00000336308.5_5'Flank|PPP1R1B_ENST00000394267.2_Silent_p.S162S	NM_032192.3	NP_115568.2	Q9UD71	PPR1B_HUMAN	protein phosphatase 1, regulatory (inhibitor) subunit 1B	198					intracellular signal transduction (GO:0035556)|negative regulation of catalytic activity (GO:0043086)|negative regulation of female receptivity (GO:0007621)|negative regulation of protein kinase activity (GO:0006469)|regulation of catalytic activity (GO:0050790)|response to amphetamine (GO:0001975)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|visual learning (GO:0008542)	cytosol (GO:0005829)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	protein kinase inhibitor activity (GO:0004860)|protein phosphatase inhibitor activity (GO:0004864)|protein phosphatase type 1 regulator activity (GO:0008599)			kidney(1)|large_intestine(1)|liver(1)|lung(2)	5	Lung NSC(9;1.15e-09)|all_lung(9;6.24e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|BRCA - Breast invasive adenocarcinoma(8;1.04e-44)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			AGCGCCCTTCCCCCTCTGAGC	0.627																																						ENST00000254079.4																			0				kidney(1)|large_intestine(1)|liver(1)|lung(2)	5						c.(592-594)tcC>tcA		protein phosphatase 1, regulatory (inhibitor) subunit 1B							43	41	42					17																	37792097		2203	4300	6503	SO:0001819	synonymous_variant	84152				signal transduction	cytosol	protein kinase inhibitor activity|protein phosphatase inhibitor activity	g.chr17:37792097C>A	AI124650	CCDS11339.1, CCDS11340.1	17q12	2012-04-17	2008-07-31		ENSG00000131771	ENSG00000131771	3.1.3.16	"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	9287	protein-coding gene	gene with protein product	"dopamine and cAMP regulated phosphoprotein"	604399				8120638	Standard	NM_032192		Approved	DARPP-32, FLJ20940	uc002hrz.3	Q9UD71	OTTHUMG00000133210	ENST00000254079.4:c.594C>A	17.37:g.37792097C>A						PPP1R1B_ENST00000580825.1_Silent_p.S198S|PPP1R1B_ENST00000394265.1_Silent_p.S162S|PPP1R1B_ENST00000579000.1_Silent_p.S165S|PPP1R1B_ENST00000394267.2_Silent_p.S162S	p.S198S	NM_032192.3	NP_115568.2	Q9UD71	PPR1B_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|BRCA - Breast invasive adenocarcinoma(8;1.04e-44)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)		7	1063	+	Lung NSC(9;1.15e-09)|all_lung(9;6.24e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		198					Q547V9|Q547W0|Q9H7G1	Silent	SNP	ENST00000254079.4	37	c.594C>A	CCDS11339.1																																																																																				0.627	PPP1R1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256925.2	NM_032192		5	26	1	0	1	1	1	5	26					A	37792097	C	A	37792097	2	1	381	1	0	0	0	0	0	0	0	1	12368	610	22	5		5	PPP1R1B	17	37792097	Silent	SNP	C	TCGA-V1-A9O5-01A-11D-A41K-08	8301734	37792097	43403113	29	18766											
CACNA1G	8913	broad.mit.edu	37	chr17	48703707	48703709	+	In_Frame_Del	DEL	GAA	GAA	-																															cccccatccccacgggacctGaagaagtgctacagcgtgga																										TCGA-V1-A9O5-01A-11D-A41K-08	TCGA-V1-A9O5-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b3d6c97-dfa9-4531-b8b6-7d195c52e25b	478f8c5f-260a-4d8a-a4f2-a07a8931f6a1	g.chr17:48703707_48703709delGAA	ENST00000359106.5	+	38	6729_6731	c.6729_6731delGAA	c.(6727-6732)ctgaag>ctg	p.K2245del	CACNA1G_ENST00000507336.1_In_Frame_Del_p.K2234del|CACNA1G_ENST00000442258.2_In_Frame_Del_p.K2111del|CACNA1G_ENST00000510115.1_In_Frame_Del_p.K2166del|CACNA1G_ENST00000512389.1_In_Frame_Del_p.K2141del|CACNA1G_ENST00000507896.1_In_Frame_Del_p.K2062del|CACNA1G_ENST00000510366.1_In_Frame_Del_p.K2100del|CACNA1G_ENST00000507510.2_In_Frame_Del_p.K2200del|CACNA1G_ENST00000514181.1_In_Frame_Del_p.K2127del|CACNA1G_ENST00000514079.1_In_Frame_Del_p.K2159del|CACNA1G_ENST00000515411.1_In_Frame_Del_p.K2182del|CACNA1G_ENST00000513964.1_In_Frame_Del_p.K2107del|CACNA1G_ENST00000507609.1_In_Frame_Del_p.K2145del|CACNA1G_ENST00000513689.2_In_Frame_Del_p.K2155del|CACNA1G_ENST00000514717.1_In_Frame_Del_p.K2095del|CACNA1G_ENST00000503485.1_In_Frame_Del_p.K2118del|CACNA1G_ENST00000515765.1_In_Frame_Del_p.K2189del|CACNA1G_ENST00000354983.4_In_Frame_Del_p.K2211del|CACNA1G_ENST00000429973.2_In_Frame_Del_p.K2134del|CTB-22K21.2_ENST00000502435.1_RNA|CACNA1G_ENST00000360761.4_In_Frame_Del_p.K2129del|CACNA1G_ENST00000515165.1_In_Frame_Del_p.K2152del|CACNA1G_ENST00000352832.5_In_Frame_Del_p.K2118del|CACNA1G_ENST00000358244.5_In_Frame_Del_p.K2039del|CACNA1G_ENST00000502264.1_In_Frame_Del_p.K2174del|CACNA1G_ENST00000505165.1_In_Frame_Del_p.K2073del	NM_018896.4	NP_061496.2	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit	2245					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|membrane depolarization during action potential (GO:0086010)|positive regulation of calcium ion-dependent exocytosis (GO:0045956)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of heart rate (GO:0002027)|regulation of membrane potential (GO:0042391)|response to nickel cation (GO:0010045)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	low voltage-gated calcium channel activity (GO:0008332)|scaffold protein binding (GO:0097110)			breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Cinnarizine(DB00568)|Ethosuximide(DB00593)|Flunarizine(DB04841)|Methsuximide(DB05246)|Spironolactone(DB00421)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	CACGGGACCTGAAGAAGTGCTAC	0.64											OREG0024569	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000352832.5																			0				breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47						c.(6346-6351)ctg>ct		calcium channel, voltage-dependent, T type, alpha 1G subunit	Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)																																			SO:0001651	inframe_deletion	8913				axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity	g.chr17:48703707_48703709delGAA	AC004590	CCDS45730.1, CCDS45731.1, CCDS45732.1, CCDS45733.1, CCDS45734.1, CCDS45735.1, CCDS45736.1, CCDS45737.1, CCDS54142.1, CCDS54143.1, CCDS54144.1, CCDS54145.1, CCDS54146.1, CCDS58565.1, CCDS58566.1, CCDS58567.1, CCDS58568.1, CCDS58569.1, CCDS58570.1, CCDS58571.1, CCDS58572.1, CCDS58573.1, CCDS58574.1, CCDS58575.1, CCDS58576.1	17q22	2012-03-07	2007-02-16		ENSG00000006283	ENSG00000006283		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1394	protein-coding gene	gene with protein product		604065				9495342, 16382099	Standard	NM_001256334		Approved	Cav3.1, NBR13	uc002irk.2	O43497	OTTHUMG00000162180	ENST00000359106.5:c.6729_6731delGAA	17.37:g.48703710_48703712delGAA	ENSP00000352011:p.Lys2245del		OREG0024569	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	956	CACNA1G_ENST00000358244.5_In_Frame_Del_p.LK2037del|CACNA1G_ENST00000507896.1_In_Frame_Del_p.LK2060del|CACNA1G_ENST00000514717.1_In_Frame_Del_p.LK2093del|CACNA1G_ENST00000514181.1_In_Frame_Del_p.LK2125del|CACNA1G_ENST00000507336.1_In_Frame_Del_p.LK2232del|CACNA1G_ENST00000513964.1_In_Frame_Del_p.LK2105del|CACNA1G_ENST00000513689.2_In_Frame_Del_p.LK2153del|CACNA1G_ENST00000429973.2_In_Frame_Del_p.LK2132del|CACNA1G_ENST00000507510.2_In_Frame_Del_p.LK2198del|CACNA1G_ENST00000359106.5_In_Frame_Del_p.LK2243del|CACNA1G_ENST00000515765.1_In_Frame_Del_p.LK2187del|CACNA1G_ENST00000507609.1_In_Frame_Del_p.LK2143del|CACNA1G_ENST00000515411.1_In_Frame_Del_p.LK2180del|CACNA1G_ENST00000515165.1_In_Frame_Del_p.LK2150del|CACNA1G_ENST00000514079.1_In_Frame_Del_p.LK2157del|CACNA1G_ENST00000505165.1_In_Frame_Del_p.LK2071del|CACNA1G_ENST00000360761.4_In_Frame_Del_p.LK2127del|CACNA1G_ENST00000510366.1_In_Frame_Del_p.LK2098del|CACNA1G_ENST00000354983.4_In_Frame_Del_p.LK2209del|CACNA1G_ENST00000512389.1_In_Frame_Del_p.LK2139del|CACNA1G_ENST00000503485.1_In_Frame_Del_p.LK2116del|CACNA1G_ENST00000442258.2_In_Frame_Del_p.LK2109del|CACNA1G_ENST00000510115.1_In_Frame_Del_p.LK2164del|CACNA1G_ENST00000502264.1_In_Frame_Del_p.LK2172del	p.LK2116del	NM_001256334.1|NM_198376.2|NM_198379.2|NM_198387.2|NM_198388.2	NP_001243263.1|NP_938190.1|NP_938193.1|NP_938201.1|NP_938202.1	O43497	CAC1G_HUMAN	BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		34	6720_6722	+	Breast(11;6.7e-17)		2243					D6RA64|E7EPR0|O43498|O94770|Q19QY8|Q19QY9|Q19QZ0|Q19QZ1|Q19QZ2|Q19QZ3|Q19QZ4|Q19QZ5|Q19QZ6|Q19QZ7|Q19QZ8|Q19QZ9|Q19R00|Q19R01|Q19R02|Q19R03|Q19R04|Q19R05|Q19R06|Q19R07|Q19R08|Q19R09|Q19R10|Q19R11|Q19R12|Q19R13|Q19R15|Q19R16|Q19R17|Q19R18|Q2TAC4|Q9NYU4|Q9NYU5|Q9NYU6|Q9NYU7|Q9NYU8|Q9NYU9|Q9NYV0|Q9NYV1|Q9UHN9|Q9UHP0|Q9ULU6|Q9UNG7|Q9Y5T2|Q9Y5T3	In_Frame_Del	DEL	ENST00000359106.5	37	c.6348_6350delGAA	CCDS45730.1																																																																																				0.64	CACNA1G-013	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000367895.1	NM_018896		10	31						10	31	---	---	---	---	-	48703709	GAA	-	48703707	7	5	381	1	0	1	0	1	0	0	0	0	2544	1277	45	0	7146	0	CACNA1G	17	48703707	In_Frame_Del	DEL	GAA	TCGA-V1-A9O5-01A-11D-A41K-08	10911610	48703707	32491503	30	18767											
KIAA1012	22878	broad.mit.edu	37	chr18	29497560	29497560	+	Frame_Shift_Del	DEL	A	A	-																															catgctaaatagtggttcagAaattcatgatccaatgctgg																										TCGA-V1-A9O5-01A-11D-A41K-08	TCGA-V1-A9O5-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b3d6c97-dfa9-4531-b8b6-7d195c52e25b	478f8c5f-260a-4d8a-a4f2-a07a8931f6a1	g.chr18:29497560delA	ENST00000283351.4	-	3	758	c.423delT	c.(421-423)tttfs	p.F141fs	TRAPPC8_ENST00000582513.1_Frame_Shift_Del_p.F141fs|TRAPPC8_ENST00000582539.1_Frame_Shift_Del_p.F87fs	NM_014939.3	NP_055754	Q9Y2L5	TPPC8_HUMAN	trafficking protein particle complex 8	141					vesicle-mediated transport (GO:0016192)	Golgi apparatus (GO:0005794)				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(7)|liver(2)|lung(13)|ovary(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						AGTGGTTCAGAAATTCATGAT	0.318																																						ENST00000283351.4																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(7)|liver(2)|lung(13)|ovary(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						c.(421-423)ttfs		trafficking protein particle complex 8							149	161	157					18																	29497560		2203	4300	6503	SO:0001589	frameshift_variant	22878				ER to Golgi vesicle-mediated transport	cis-Golgi network		g.chr18:29497560delA	AB023229	CCDS11901.1	18q12.1	2011-10-10	2010-06-29	2010-06-29	ENSG00000153339	ENSG00000153339		"Trafficking protein particle complex"	29169	protein-coding gene	gene with protein product	"general sporulation gene 1 homolog (S. cerevisiae)"	614136	"KIAA1012"	KIAA1012		10231032, 11230166	Standard	NM_014939		Approved	HsT2706, TRS85, GSG1	uc002kxc.4	Q9Y2L5	OTTHUMG00000132267	ENST00000283351.4:c.423delT	18.37:g.29497560delA	ENSP00000283351:p.Phe141fs					TRAPPC8_ENST00000582539.1_Frame_Shift_Del_p.F87fs|TRAPPC8_ENST00000582513.1_Frame_Shift_Del_p.F141fs	p.F141fs	NM_014939.3	NP_055754.2	Q9Y2L5	TPPC8_HUMAN			3	758	-			141					A0JP15|B3KME5|Q9H0L2	Frame_Shift_Del	DEL	ENST00000283351.4	37	c.423delT	CCDS11901.1																																																																																				0.318	TRAPPC8-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255355.1	NM_014939		32	121						32	121	---	---	---	---	-	29497560	A	-	29497560	7	5	381	1	0	1	0	1	0	0	0	0	8204	243	9	0	3992	0	KIAA1012	18	29497560	Frame_Shift_Del	DEL	A	TCGA-V1-A9O5-01A-11D-A41K-08		29497560	48579688	31	18768											
SALL3	27164	broad.mit.edu	37	chr18	76754090	76754090	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgaagatgcactaccggaCgcacacgggggagcggccgt	9	4	16	12	5	0	2	0	1	0	1	0	4	0	4	2	4	3	3	2	4	2	1			TCGA-V1-A9O5-01A-11D-A41K-08	TCGA-V1-A9O5-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b3d6c97-dfa9-4531-b8b6-7d195c52e25b	478f8c5f-260a-4d8a-a4f2-a07a8931f6a1	g.chr18:76754090C>T	ENST00000537592.2	+	2	2099	c.2099C>T	c.(2098-2100)aCg>aTg	p.T700M	SALL3_ENST00000536229.3_Missense_Mutation_p.T567M|SALL3_ENST00000575389.2_Missense_Mutation_p.T700M	NM_171999.3	NP_741996.2	Q9BXA9	SALL3_HUMAN	spalt-like transcription factor 3	700					forelimb morphogenesis (GO:0035136)|hindlimb morphogenesis (GO:0035137)|negative regulation of smoothened signaling pathway (GO:0045879)|olfactory bulb interneuron development (GO:0021891)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)		CACTACCGGACGCACACGGGG	0.632																																						ENST00000536229.3																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	74						c.(1699-1701)aCg>aTg		spalt-like transcription factor 3							32	31	32					18																	76754090		2202	4298	6500	SO:0001583	missense	27164				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr18:76754090C>T	AJ007421	CCDS12013.1	18q23	2013-10-17	2013-10-17		ENSG00000256463	ENSG00000256463		"Zinc fingers, C2H2-type"	10527	protein-coding gene	gene with protein product		605079	"sal (Drosophila)-like 3", "sal-like 3 (Drosophila)"			10610715	Standard	NM_171999		Approved	ZNF796	uc002lmt.3	Q9BXA9	OTTHUMG00000132896	ENST00000537592.2:c.2099C>T	18.37:g.76754090C>T	ENSP00000441823:p.Thr700Met					SALL3_ENST00000575389.2_Missense_Mutation_p.T700M|SALL3_ENST00000537592.2_Missense_Mutation_p.T700M	p.T567M			Q9BXA9	SALL3_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)	1	2409	+		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)	700					Q9UGH1	Missense_Mutation	SNP	ENST00000537592.2	37	c.1700C>T	CCDS12013.1	.	.	.	.	.	.	.	.	.	.	C	9.967	1.224324	0.22457	.	.	ENSG00000256463	ENST00000537592;ENST00000536229;ENST00000543056	T	0.13089	2.62	5.33	5.33	0.75918	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.64402	D	0.000017	T	0.34600	0.0903	L	0.56396	1.775	0.58432	D	0.999993	D;D	0.76494	0.998;0.999	P;D	0.66196	0.804;0.942	T	0.02208	-1.1195	10	0.56958	D	0.05	-41.1366	19.053	0.93053	0.0:1.0:0.0:0.0	.	432;700	F5GXY4;Q9BXA9	.;SALL3_HUMAN	M	700;700;432	ENSP00000441823:T700M	ENSP00000299466:T700M	T	+	2	0	SALL3	74855078	1.000000	0.71417	1.000000	0.80357	0.785000	0.44390	4.822000	0.62686	2.499000	0.84300	0.655000	0.94253	ACG		0.632	SALL3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256397.1	NM_171999		8	30	0	0	0	1	0	8	30					T	76754090	C	T	76754090	3	4	381	1	0	0	0	0	1	0	0	0	13812	536	19	1	2105	1	SALL3	18	76754090	Missense_Mutation	SNP	C	TCGA-V1-A9O5-01A-11D-A41K-08	47256530	76754090	1323158	32	18769											
PCSK4	148223	broad.mit.edu	37	chr19	1481849	1481849	+	5'Flank	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gtgggaggtccatggacatgCcgcagaggacggggcctccg	7	5	18	11	3	0	1	0	0	0	1	2	4	2	4	4	6	1	1	4	6	0	0			TCGA-V1-A9O5-01A-11D-A41K-08	TCGA-V1-A9O5-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b3d6c97-dfa9-4531-b8b6-7d195c52e25b	478f8c5f-260a-4d8a-a4f2-a07a8931f6a1	g.chr19:1481849C>T	ENST00000436106.2	-	0	0				C19orf25_ENST00000427685.2_5'Flank|C19orf25_ENST00000585675.1_5'Flank|C19orf25_ENST00000588871.1_5'Flank|C19orf25_ENST00000586564.1_5'Flank|C19orf25_ENST00000592872.1_5'Flank|C19orf25_ENST00000591027.1_5'Flank|PCSK4_ENST00000300954.5_Missense_Mutation_p.G726D|C19orf25_ENST00000588427.1_5'Flank|C19orf25_ENST00000588849.1_5'Flank|CTB-25B13.6_ENST00000585643.1_RNA			Q9UFG5	CS025_HUMAN	chromosome 19 open reading frame 25														Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CATGGACATGCCGCAGAGGAC	0.687																																						ENST00000300954.5																			0				cervix(2)|endometrium(2)|kidney(1)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	15						c.(2176-2178)gGc>gAc		proprotein convertase subtilisin/kexin type 4							23	25	25					19																	1481849		2199	4296	6495	SO:0001631	upstream_gene_variant	54760				proteolysis	integral to membrane	serine-type endopeptidase activity	g.chr19:1481849C>T	AK075267	CCDS45898.1	19p13.3	2012-10-24			ENSG00000119559	ENSG00000119559			26711	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_152482		Approved	FLJ36666	uc010dsk.3	Q9UFG5	OTTHUMG00000180092		19.37:g.1481849C>T	Exception_encountered						p.G726D	NM_017573.3	NP_060043.2	Q6UW60	PCSK4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	15	2238	-		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)	726					B3KQN6|Q8N9R7|Q8WV94	Missense_Mutation	SNP	ENST00000436106.2	37	c.2177G>A	CCDS45898.1	.	.	.	.	.	.	.	.	.	.	C	8.154	0.788128	0.16258	.	.	ENSG00000115257	ENST00000300954	T	0.69040	-0.37	2.46	2.46	0.29980	.	.	.	.	.	T	0.47746	0.1462	N	0.22421	0.69	0.09310	N	1	B	0.21452	0.056	B	0.15052	0.012	T	0.31052	-0.9957	9	0.35671	T	0.21	.	6.2541	0.20864	0.2973:0.7027:0.0:0.0	.	726	Q6UW60	PCSK4_HUMAN	D	726	ENSP00000300954:G726D	ENSP00000300954:G726D	G	-	2	0	PCSK4	1432849	0.000000	0.05858	0.002000	0.10522	0.014000	0.08584	-1.026000	0.03596	1.228000	0.43614	0.305000	0.20034	GGC		0.687	C19orf25-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449694.1	NM_152482		3	23	0	0	0	1	0	3	23					T	1481849	C	T	1481849	1	4	381	0	1	0	0	0	0	0	0	0	11602	739	26	3		3	PCSK4	19	1481849	5'Flank	SNP	C	TCGA-V1-A9O5-01A-11D-A41K-08		1481849	57647134	33	18770											
TBXA2R	6915	broad.mit.edu	37	chr19	3600596	3600596	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagggtaatgtttgtgggccGgaaacagggccccagggaac	10	6	16	9	1	0	0	0	0	0	0	0	2	0	2	3	5	2	2	3	5	3	2			TCGA-V1-A9O5-01A-11D-A41K-08	TCGA-V1-A9O5-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b3d6c97-dfa9-4531-b8b6-7d195c52e25b	478f8c5f-260a-4d8a-a4f2-a07a8931f6a1	g.chr19:3600596G>A	ENST00000375190.4	-	2	430	c.37C>T	c.(37-39)Cgg>Tgg	p.R13W	TBXA2R_ENST00000587717.1_5'Flank|TBXA2R_ENST00000411851.3_Missense_Mutation_p.R13W|TBXA2R_ENST00000589966.1_Missense_Mutation_p.R13W	NM_001060.5|NM_201636.2	NP_001051.1|NP_963998.2	P21731	TA2R_HUMAN	thromboxane A2 receptor	13					blood coagulation (GO:0007596)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|platelet activation (GO:0030168)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood pressure (GO:0045777)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of GTPase activity (GO:0043547)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of vasoconstriction (GO:0045907)|response to drug (GO:0042493)|response to lipopolysaccharide (GO:0032496)|response to nutrient (GO:0007584)|second-messenger-mediated signaling (GO:0019932)|thromboxane A2 signaling pathway (GO:0038193)	acrosomal vesicle (GO:0001669)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|thromboxane A2 receptor activity (GO:0004961)			kidney(1)|lung(2)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	8		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18)	Ridogrel(DB01207)	TTTGTGGGCCGGAAACAGGGC	0.667																																						ENST00000375190.4																			0				kidney(1)|lung(2)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	8						c.(37-39)Cgg>Tgg		thromboxane A2 receptor	Ridogrel(DB01207)						16	19	18					19																	3600596		1996	4140	6136	SO:0001583	missense	0				platelet activation	integral to plasma membrane	guanyl-nucleotide exchange factor activity|protein binding|thromboxane A2 receptor activity	g.chr19:3600596G>A		CCDS42467.1, CCDS54198.1	19p13.3	2014-09-17						"GPCR / Class A : Prostanoid receptors"	11608	protein-coding gene	gene with protein product		188070				1825698	Standard	NM_001060		Approved		uc021umv.1	P21731		ENST00000375190.4:c.37C>T	19.37:g.3600596G>A	ENSP00000364336:p.Arg13Trp					TBXA2R_ENST00000589966.1_Missense_Mutation_p.R13W|TBXA2R_ENST00000411851.3_Missense_Mutation_p.R13W	p.R13W	NM_001060.5|NM_201636.2	NP_001051.1|NP_963998.2	P21731	TA2R_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18)	2	430	-		Hepatocellular(1079;0.137)	13					O75228|Q6DK52|Q9UCY1|Q9UCY2	Missense_Mutation	SNP	ENST00000375190.4	37	c.37C>T	CCDS42467.1	.	.	.	.	.	.	.	.	.	.	G	15.92	2.976389	0.53720	.	.	ENSG00000006638	ENST00000411851;ENST00000375190	T;T	0.37058	1.22;1.22	4.52	3.44	0.39384	.	0.188498	0.37095	U	0.002250	T	0.44180	0.1281	L	0.29908	0.895	0.36838	D	0.887221	D;D	0.89917	1.0;1.0	D;D	0.69142	0.912;0.962	T	0.50717	-0.8795	10	0.51188	T	0.08	-36.1729	11.6923	0.51523	0.0:0.0:0.8212:0.1788	.	13;13	P21731;E2QRJ2	TA2R_HUMAN;.	W	13	ENSP00000393333:R13W;ENSP00000364336:R13W	ENSP00000364336:R13W	R	-	1	2	TBXA2R	3551596	1.000000	0.71417	0.999000	0.59377	0.317000	0.28152	1.406000	0.34646	0.981000	0.38548	0.298000	0.19748	CGG		0.667	TBXA2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453081.2			3	33	0	0	0	1	0	3	33					A	3600596	G	A	3600596	3	1	381	1	0	0	0	0	1	0	0	0	15660	1115	39	2	1247	2	TBXA2R	19	3600596	Missense_Mutation	SNP	G	TCGA-V1-A9O5-01A-11D-A41K-08	2118747	3600596	55528387	34	18771											
PLIN4	729359	broad.mit.edu	37	chr19	4511994	4511994	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtgttctttgtacctgtcgCgatattttgggtcgttttca	4	19	11	7	3	2	0	1	0	1	0	4	1	2	0	1	2	1	3	1	2	2	8			TCGA-V1-A9O5-01A-11D-A41K-08	TCGA-V1-A9O5-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b3d6c97-dfa9-4531-b8b6-7d195c52e25b	478f8c5f-260a-4d8a-a4f2-a07a8931f6a1	g.chr19:4511994C>T	ENST00000301286.3	-	3	1935	c.1936G>A	c.(1936-1938)Gcg>Acg	p.A646T		NM_001080400.1	NP_001073869.1	Q96Q06	PLIN4_HUMAN	perilipin 4	646	27 X 33 AA approximate tandem repeat.					cytoplasm (GO:0005737)|lipid particle (GO:0005811)|plasma membrane (GO:0005886)				NS(2)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|soft_tissue(1)|stomach(2)	41						GTACCTGTCGCGATATTTTGG	0.572																																						ENST00000301286.3																			0				NS(2)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|soft_tissue(1)|stomach(2)	41						c.(1936-1938)Gcg>Acg		perilipin 4							127	131	130					19																	4511994		2045	4180	6225	SO:0001583	missense	729359					lipid particle|plasma membrane		g.chr19:4511994C>T	AB067468	CCDS45927.1	19p13.3	2009-10-06	2009-08-12	2009-08-12	ENSG00000167676	ENSG00000167676		"Perilipins"	29393	protein-coding gene	gene with protein product		613247	"KIAA1881"	KIAA1881		11572484, 19638644	Standard	NM_001080400		Approved	S3-12	uc002mar.1	Q96Q06	OTTHUMG00000167571	ENST00000301286.3:c.1936G>A	19.37:g.4511994C>T	ENSP00000301286:p.Ala646Thr						p.A646T	NM_001080400.1	NP_001073869.1	Q96Q06	PLIN4_HUMAN			3	1935	-			646			27 X 33 AA approximate tandem repeat.		A6NEI2	Missense_Mutation	SNP	ENST00000301286.3	37	c.1936G>A	CCDS45927.1	.	.	.	.	.	.	.	.	.	.	G	16.68	3.190840	0.58017	.	.	ENSG00000167676	ENST00000301286	T	0.03553	3.89	4.47	-8.95	0.00765	.	3.282780	0.01714	U	0.027918	T	0.03348	0.0097	L	0.51422	1.61	0.09310	N	1	P	0.39131	0.661	B	0.33042	0.157	T	0.29027	-1.0025	10	0.11794	T	0.64	-0.9116	9.9947	0.41891	0.0757:0.6424:0.1204:0.1614	.	646	Q96Q06	PLIN4_HUMAN	T	646	ENSP00000301286:A646T	ENSP00000301286:A646T	A	-	1	0	PLIN4	4462994	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-3.446000	0.00468	-1.903000	0.01093	0.289000	0.19496	GCG		0.572	PLIN4-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395095.1	XM_170901		38	120	0	0	0	1	0	38	120					T	4511994	C	T	4511994	3	4	381	1	0	0	0	0	1	0	0	0	12092	768	27	1	2153	1	PLIN4	19	4511994	Missense_Mutation	SNP	C	TCGA-V1-A9O5-01A-11D-A41K-08	911398	4511994	54616989	35	18772											
TUBB4	10382	broad.mit.edu	37	chr19	6495442	6495442	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	atcttcaggccgcggggcggGatgtcgcacacggccgtctt	5	8	15	13	6	3	0	1	0	2	0	4	1	3	1	2	5	0	1	2	5	0	2			TCGA-V1-A9O5-01A-11D-A41K-08	TCGA-V1-A9O5-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b3d6c97-dfa9-4531-b8b6-7d195c52e25b	478f8c5f-260a-4d8a-a4f2-a07a8931f6a1	g.chr19:6495442G>A	ENST00000264071.2	-	4	1439	c.1068C>T	c.(1066-1068)atC>atT	p.I356I	CTD-2396E7.10_ENST00000596027.1_RNA|CTD-2396E7.9_ENST00000599292.1_RNA|TUBB4A_ENST00000540257.1_Silent_p.I356I			P04350	TBB4A_HUMAN	tubulin, beta 4A class IVa	356					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based process (GO:0007017)|mitotic cell cycle (GO:0000278)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cilium (GO:0005929)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|internode region of axon (GO:0033269)|microtubule (GO:0005874)|myelin sheath (GO:0043209)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)										CGCGGGGCGGGATGTCGCACA	0.612																																						ENST00000264071.2																			0											c.(1066-1068)atC>atT		tubulin, beta 4A class IVa							176	149	158					19																	6495442		2203	4300	6503	SO:0001819	synonymous_variant	10382				'de novo' posttranslational protein folding|G2/M transition of mitotic cell cycle|microtubule-based movement|protein polymerization	cytosol|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity	g.chr19:6495442G>A	AK075307	CCDS12168.1	19p13.3	2014-02-05	2011-10-11	2011-10-10	ENSG00000104833	ENSG00000104833		"Tubulins"	20774	protein-coding gene	gene with protein product	"class IVa beta-tubulin"	602662	"tubulin, beta 4", "tubulin, beta 4 class IVa", "dystonia 4, torsion (autosomal dominant)"	TUBB4, DYT4		6865944, 6462917, 23595291	Standard	NM_001289123		Approved	beta-5	uc002mfg.1	P04350		ENST00000264071.2:c.1068C>T	19.37:g.6495442G>A						TUBB4A_ENST00000540257.1_Silent_p.I356I	p.I356I			P04350	TBB4_HUMAN			4	1439	-			356					B3KQP4|Q969E5	Silent	SNP	ENST00000264071.2	37	c.1068C>T	CCDS12168.1																																																																																				0.612	TUBB4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457841.1	NM_006087		6	223	0	0	0	1	0	6	223					A	6495442	G	A	6495442	2	1	381	1	0	0	0	0	0	0	0	1	16755	1164	41	3		3	TUBB4	19	6495442	Silent	SNP	G	TCGA-V1-A9O5-01A-11D-A41K-08	1983448	6495442	52633541	36	18773											
TUBB4	10382	broad.mit.edu	37	chr19	6496111	6496111	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	cccagcgagtgggtcagctgGaagccctgaaggcagtcgca	9	5	15	12	2	1	1	1	1	0	0	2	3	1	2	2	3	3	3	2	3	2	0			TCGA-V1-A9O5-01A-11D-A41K-08	TCGA-V1-A9O5-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b3d6c97-dfa9-4531-b8b6-7d195c52e25b	478f8c5f-260a-4d8a-a4f2-a07a8931f6a1	g.chr19:6496111G>A	ENST00000264071.2	-	4	770	c.399C>T	c.(397-399)ttC>ttT	p.F133F	CTD-2396E7.10_ENST00000596027.1_RNA|TUBB4A_ENST00000598006.1_3'UTR|TUBB4A_ENST00000601152.1_3'UTR|CTD-2396E7.9_ENST00000599292.1_RNA|TUBB4A_ENST00000540257.1_Silent_p.F133F			P04350	TBB4A_HUMAN	tubulin, beta 4A class IVa	133					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based process (GO:0007017)|mitotic cell cycle (GO:0000278)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cilium (GO:0005929)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|internode region of axon (GO:0033269)|microtubule (GO:0005874)|myelin sheath (GO:0043209)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)										GGGTCAGCTGGAAGCCCTGAA	0.642																																						ENST00000264071.2																			0											c.(397-399)ttC>ttT		tubulin, beta 4A class IVa							76	68	71					19																	6496111		2203	4300	6503	SO:0001819	synonymous_variant	10382				'de novo' posttranslational protein folding|G2/M transition of mitotic cell cycle|microtubule-based movement|protein polymerization	cytosol|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity	g.chr19:6496111G>A	AK075307	CCDS12168.1	19p13.3	2014-02-05	2011-10-11	2011-10-10	ENSG00000104833	ENSG00000104833		"Tubulins"	20774	protein-coding gene	gene with protein product	"class IVa beta-tubulin"	602662	"tubulin, beta 4", "tubulin, beta 4 class IVa", "dystonia 4, torsion (autosomal dominant)"	TUBB4, DYT4		6865944, 6462917, 23595291	Standard	NM_001289123		Approved	beta-5	uc002mfg.1	P04350		ENST00000264071.2:c.399C>T	19.37:g.6496111G>A						TUBB4A_ENST00000601152.1_3'UTR|TUBB4A_ENST00000540257.1_Silent_p.F133F|TUBB4A_ENST00000598006.1_3'UTR	p.F133F			P04350	TBB4_HUMAN			4	770	-			133					B3KQP4|Q969E5	Silent	SNP	ENST00000264071.2	37	c.399C>T	CCDS12168.1																																																																																				0.642	TUBB4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457841.1	NM_006087		4	87	0	0	0	1	0	4	87					A	6496111	G	A	6496111	2	1	381	1	0	0	0	0	0	0	0	1	16755	1165	41	3		3	TUBB4	19	6496111	Silent	SNP	G	TCGA-V1-A9O5-01A-11D-A41K-08	669	6496111	52632872	37	18774											
ICAM1	3383	broad.mit.edu	37	chr19	10385561	10385561	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gttgttgggcatagagacccCgttgcctaaaaaggagttgc	10	10	13	8	1	0	1	0	0	0	1	0	3	0	2	3	2	2	5	3	2	4	6			TCGA-V1-A9O5-01A-11D-A41K-08	TCGA-V1-A9O5-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b3d6c97-dfa9-4531-b8b6-7d195c52e25b	478f8c5f-260a-4d8a-a4f2-a07a8931f6a1	g.chr19:10385561C>T	ENST00000264832.3	+	2	513	c.188C>T	c.(187-189)cCg>cTg	p.P63L	ICAM1_ENST00000423829.2_Intron|CTD-2369P2.5_ENST00000592893.1_RNA	NM_000201.2	NP_000192.2	P05362	ICAM1_HUMAN	intercellular adhesion molecule 1	63	Ig-like C2-type 1.				adhesion of symbiont to host (GO:0044406)|cell adhesion (GO:0007155)|cell adhesion mediated by integrin (GO:0033627)|cell aging (GO:0007569)|cellular response to alkaloid (GO:0071312)|cellular response to glucose stimulus (GO:0071333)|cellular response to hypoxia (GO:0071456)|cellular response to interleukin-1 (GO:0071347)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to nutrient levels (GO:0031669)|cellular response to tumor necrosis factor (GO:0071356)|cytokine-mediated signaling pathway (GO:0019221)|establishment of endothelial barrier (GO:0061028)|extracellular matrix organization (GO:0030198)|heterophilic cell-cell adhesion (GO:0007157)|interferon-gamma-mediated signaling pathway (GO:0060333)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|membrane to membrane docking (GO:0022614)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|ovarian follicle development (GO:0001541)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cellular extravasation (GO:0002693)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of vasoconstriction (GO:0045907)|receptor-mediated virion attachment to host cell (GO:0046813)|regulation of cell adhesion (GO:0030155)|regulation of cell shape (GO:0008360)|regulation of immune response (GO:0050776)|regulation of leukocyte mediated cytotoxicity (GO:0001910)|regulation of ruffle assembly (GO:1900027)|response to amino acid (GO:0043200)|response to amphetamine (GO:0001975)|response to copper ion (GO:0046688)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to gonadotropin (GO:0034698)|response to ionizing radiation (GO:0010212)|response to organic cyclic compound (GO:0014070)|response to sulfur dioxide (GO:0010477)|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell (GO:0002291)|T cell antigen processing and presentation (GO:0002457)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|immunological synapse (GO:0001772)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)|virus receptor activity (GO:0001618)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(20;1.39e-09)|Epithelial(33;2.81e-06)|all cancers(31;6.56e-06)		Hyaluronan(DB08818)|Natalizumab(DB00108)	ATAGAGACCCCGTTGCCTAAA	0.542																																						ENST00000264832.3																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						c.(187-189)cCg>cTg		intercellular adhesion molecule 1	Natalizumab(DB00108)|Simvastatin(DB00641)						106	101	103					19																	10385561		2203	4300	6503	SO:0001583	missense	3383				adhesion to symbiont|heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|membrane to membrane docking|positive regulation of cellular extravasation|regulation of immune response|regulation of leukocyte mediated cytotoxicity|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell|virion attachment, binding of host cell surface receptor	extracellular space|integral to plasma membrane	integrin binding|transmembrane receptor activity	g.chr19:10385561C>T		CCDS12231.1	19p13.3-p13.2	2014-01-30	2008-07-18			ENSG00000090339		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Endogenous ligands"	5344	protein-coding gene	gene with protein product	"human rhinovirus receptor"	147840				2453850, 3871395	Standard	NM_000201		Approved	BB2, CD54	uc002mnq.2	P05362		ENST00000264832.3:c.188C>T	19.37:g.10385561C>T	ENSP00000264832:p.Pro63Leu					ICAM1_ENST00000423829.2_Intron|CTD-2369P2.5_ENST00000592893.1_RNA	p.P63L	NM_000201.2	NP_000192.2	P05362	ICAM1_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;1.39e-09)|Epithelial(33;2.81e-06)|all cancers(31;6.56e-06)		2	513	+			63			Ig-like C2-type 1.		B2R6M3|Q5NKV7|Q96B50	Missense_Mutation	SNP	ENST00000264832.3	37	c.188C>T	CCDS12231.1	.	.	.	.	.	.	.	.	.	.	C	7.936	0.741636	0.15642	.	.	ENSG00000090339	ENST00000264832	T	0.14893	2.47	4.56	-9.12	0.00707	Intercellular adhesion molecule, N-terminal (1);Immunoglobulin-like fold (1);	24.807400	0.00166	N	0.000000	T	0.07369	0.0186	N	0.16903	0.455	0.09310	N	0.999998	B	0.10296	0.003	B	0.06405	0.002	T	0.25117	-1.0141	10	0.10377	T	0.69	5.0099	4.1595	0.10277	0.5861:0.1141:0.0806:0.2193	.	63	P05362	ICAM1_HUMAN	L	63	ENSP00000264832:P63L	ENSP00000264832:P63L	P	+	2	0	ICAM1	10246561	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-2.198000	0.01239	-2.374000	0.00599	-0.169000	0.13324	CCG		0.542	ICAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451207.1			11	56	0	0	0	1	0	11	56					T	10385561	C	T	10385561	3	4	381	1	0	0	0	0	1	0	0	0	7479	652	23	2	194	2	ICAM1	19	10385561	Missense_Mutation	SNP	C	TCGA-V1-A9O5-01A-11D-A41K-08	3889450	10385561	48743422	38	18775											
NFIX	4784	broad.mit.edu	37	chr19	13189499	13189499	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctctcagggcagctccccgcGcatggctttcacccaccacc	6	7	8	20	2	2	0	2	0	1	0	4	0	3	0	5	2	1	4	5	2	0	1			TCGA-V1-A9O5-01A-11D-A41K-08	TCGA-V1-A9O5-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b3d6c97-dfa9-4531-b8b6-7d195c52e25b	478f8c5f-260a-4d8a-a4f2-a07a8931f6a1	g.chr19:13189499G>A	ENST00000592199.1	+	7	1028	c.1028G>A	c.(1027-1029)cGc>cAc	p.R343H	NFIX_ENST00000587760.1_Missense_Mutation_p.R335H|NFIX_ENST00000585575.1_Missense_Mutation_p.R335H|NFIX_ENST00000360105.4_Intron|NFIX_ENST00000397661.2_Missense_Mutation_p.R343H|NFIX_ENST00000358552.3_Intron|NFIX_ENST00000587260.1_Missense_Mutation_p.R342H|NFIX_ENST00000588228.1_Missense_Mutation_p.R296H			Q14938	NFIX_HUMAN	nuclear factor I/X (CCAAT-binding transcription factor)	343					astrocyte differentiation (GO:0048708)|cerebellar granule cell differentiation (GO:0021707)|cerebellar Purkinje cell layer development (GO:0021680)|DNA replication (GO:0006260)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(1)	11			OV - Ovarian serous cystadenocarcinoma(19;8.2e-22)			AGCTCCCCGCGCATGGCTTTC	0.642																																						ENST00000397661.2																			0				NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(1)	11						c.(1027-1029)cGc>cAc		nuclear factor I/X (CCAAT-binding transcription factor)							18	22	20					19																	13189499		1991	4156	6147	SO:0001583	missense	4784				DNA replication|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity	g.chr19:13189499G>A	U18761	CCDS45996.1, CCDS59359.1	19p13.3	2008-02-05				ENSG00000008441			7788	protein-coding gene	gene with protein product		164005				8340106, 7590749	Standard	NM_001271043		Approved	NF1A	uc010xmx.2	Q14938		ENST00000592199.1:c.1028G>A	19.37:g.13189499G>A	ENSP00000467512:p.Arg343His					NFIX_ENST00000587260.1_Missense_Mutation_p.R342H|NFIX_ENST00000588228.1_Missense_Mutation_p.R296H|NFIX_ENST00000592199.1_Missense_Mutation_p.R343H|NFIX_ENST00000587760.1_Missense_Mutation_p.R335H|NFIX_ENST00000360105.4_Intron|NFIX_ENST00000585575.1_Missense_Mutation_p.R335H|NFIX_ENST00000358552.3_Intron	p.R343H	NM_002501.2	NP_002492.2	Q14938	NFIX_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;8.2e-22)		7	1258	+			343					B4DM25|O60413|Q0VG09|Q12859|Q13050|Q13052|Q5U094|Q9UPH1|Q9Y6R8	Missense_Mutation	SNP	ENST00000592199.1	37	c.1028G>A		.	.	.	.	.	.	.	.	.	.	G	20.8	4.044953	0.75846	.	.	ENSG00000008441	ENST00000397661;ENST00000360105	T	0.42513	0.97	5.28	5.28	0.74379	.	0.156005	0.46442	D	0.000282	T	0.46054	0.1373	M	0.66939	2.045	0.80722	D	1	B;B;B;B	0.19583	0.017;0.008;0.037;0.013	B;B;B;B	0.17722	0.008;0.004;0.019;0.004	T	0.44697	-0.9311	10	0.62326	D	0.03	.	17.6817	0.88245	0.0:0.0:1.0:0.0	.	351;342;343;343	B4DHW2;Q14938-5;Q14938;Q14938-3	.;.;NFIX_HUMAN;.	H	343	ENSP00000380781:R343H	ENSP00000353219:R343H	R	+	2	0	NFIX	13050499	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.554000	0.90689	2.464000	0.83262	0.603000	0.83216	CGC		0.642	NFIX-013	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000452763.1	NM_002501		4	7	0	0	0	1	0	4	7					A	13189499	G	A	13189499	3	1	381	1	0	0	0	0	1	0	0	0	10374	1087	38	1	1054	1	NFIX	19	13189499	Missense_Mutation	SNP	G	TCGA-V1-A9O5-01A-11D-A41K-08	2803938	13189499	45939484	39	18776											
DDX39	10212	broad.mit.edu	37	chr19	14523412	14523412	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gggtggccagcacgaagaccGctgtcttgcccatcccggac	7	6	13	15	3	1	1	0	0	1	1	2	3	2	2	4	3	2	2	4	3	1	1	rs374281705		TCGA-V1-A9O5-01A-11D-A41K-08	TCGA-V1-A9O5-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b3d6c97-dfa9-4531-b8b6-7d195c52e25b	478f8c5f-260a-4d8a-a4f2-a07a8931f6a1	g.chr19:14523412G>A	ENST00000242776.4	-	3	388	c.287C>T	c.(286-288)gCg>gTg	p.A96V	DDX39A_ENST00000454233.2_Missense_Mutation_p.A96V|DDX39A_ENST00000592927.1_5'Flank	NM_005804.3	NP_005795.2	O00148	DX39A_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 39A	96	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				mRNA export from nucleus (GO:0006406)|mRNA splicing, via spliceosome (GO:0000398)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)			NS(1)|endometrium(5)|kidney(1)|lung(2)|ovary(1)|pancreas(1)	11						CACGAAGACCGCTGTCTTGCC	0.642																																						ENST00000242776.4																			0				NS(1)|endometrium(5)|kidney(1)|lung(2)|ovary(1)|pancreas(1)	11						c.(286-288)gCg>gTg		DEAD (Asp-Glu-Ala-Asp) box polypeptide 39A		G	VAL/ALA	1,4405	2.1+/-5.4	0,1,2202	87	65	73		287	3.7	0	19		73	0,8600		0,0,4300	no	missense	DDX39A	NM_005804.3	64	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	96/428	14523412	1,13005	2203	4300	6503	SO:0001583	missense	10212				mRNA export from nucleus|nuclear mRNA splicing, via spliceosome	nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding	g.chr19:14523412G>A	U90426	CCDS12308.1	19p13.12	2011-02-08	2011-02-08	2011-02-08	ENSG00000123136	ENSG00000123136		"DEAD-boxes"	17821	protein-coding gene	gene with protein product	"UAP56-related helicase, 49 kDa"		"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 39", "DEAD (Asp-Glu-Ala-Asp) box polypeptide 39"	DDX39		7601445	Standard	NM_005804		Approved	DDXL, BAT1L, URH49	uc002myo.3	O00148		ENST00000242776.4:c.287C>T	19.37:g.14523412G>A	ENSP00000242776:p.Ala96Val					DDX39A_ENST00000454233.2_Missense_Mutation_p.A96V	p.A96V	NM_005804.3	NP_005795.2	O00148	DX39A_HUMAN			3	388	-			96			Helicase ATP-binding.		Q8N5M0|Q9BVP6|Q9H5W0	Missense_Mutation	SNP	ENST00000242776.4	37	c.287C>T	CCDS12308.1	.	.	.	.	.	.	.	.	.	.	G	19.08	3.758792	0.69763	2.27E-4	0.0	ENSG00000123136	ENST00000451994;ENST00000242776;ENST00000324340;ENST00000454233	T;T;T	0.39592	1.07;1.07;1.07	4.75	3.72	0.42706	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.60353	0.2262	M	0.77406	2.37	0.80722	D	1	D;D	0.89917	1.0;0.999	D;P	0.63877	0.919;0.836	T	0.64241	-0.6454	10	0.87932	D	0	-25.0003	10.6783	0.45799	0.095:0.0:0.905:0.0	.	96;96	B1Q2N1;O00148	.;DX39A_HUMAN	V	139;96;96;96	ENSP00000242776:A96V;ENSP00000322749:A96V;ENSP00000392929:A96V	ENSP00000242776:A96V	A	-	2	0	DDX39A	14384412	1.000000	0.71417	0.013000	0.15412	0.606000	0.37113	8.991000	0.93514	0.996000	0.38943	0.491000	0.48974	GCG		0.642	DDX39A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459880.1	NM_138998		3	39	0	0	0	1	0	3	39					A	14523412	G	A	14523412	3	1	381	1	0	0	0	0	1	0	0	0	4357	1087	38	1	1032	1	DDX39	19	14523412	Missense_Mutation	SNP	G	TCGA-V1-A9O5-01A-11D-A41K-08	1333913	14523412	44605571	40	18777											
OSCAR	126014	broad.mit.edu	37	chr19	54600377	54600377	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcccggcatctcaaggtcaCgttgaccccaggggtcacaa	9	7	11	14	2	3	1	3	1	1	0	4	1	3	1	3	4	1	2	3	4	2	1			TCGA-V1-A9O5-01A-11D-A41K-08	TCGA-V1-A9O5-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b3d6c97-dfa9-4531-b8b6-7d195c52e25b	478f8c5f-260a-4d8a-a4f2-a07a8931f6a1	g.chr19:54600377C>T	ENST00000284648.6	-	4	342	c.145G>A	c.(145-147)Gtg>Atg	p.V49M	OSCAR_ENST00000391761.1_Missense_Mutation_p.V38M|OSCAR_ENST00000358375.4_Missense_Mutation_p.V49M|OSCAR_ENST00000351806.4_Missense_Mutation_p.V38M|OSCAR_ENST00000391760.1_Intron|OSCAR_ENST00000359649.4_Missense_Mutation_p.V53M|OSCAR_ENST00000356532.3_Missense_Mutation_p.V53M			Q8IYS5	OSCAR_HUMAN	osteoclast associated, immunoglobulin-like receptor	49	Ig-like 1.					extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				large_intestine(1)|skin(1)	2	all_cancers(19;0.0128)|all_epithelial(19;0.00564)|all_lung(19;0.031)|Lung NSC(19;0.0358)|Ovarian(34;0.19)					CTCAAGGTCACGTTGACCCCA	0.602																																						ENST00000284648.6																			0				large_intestine(1)|skin(1)	2						c.(145-147)Gtg>Atg		osteoclast associated, immunoglobulin-like receptor							68	72	70					19																	54600377		2203	4300	6503	SO:0001583	missense	126014					extracellular region|integral to membrane|plasma membrane	receptor activity	g.chr19:54600377C>T	AK130199	CCDS12873.1, CCDS12874.1, CCDS12875.1, CCDS12876.1, CCDS62789.1, CCDS74444.1	19q13.42	2013-01-29			ENSG00000170909	ENSG00000170909		"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	29960	protein-coding gene	gene with protein product		606862				11805147	Standard	NM_206818		Approved		uc002qda.3	Q8IYS5	OTTHUMG00000064966	ENST00000284648.6:c.145G>A	19.37:g.54600377C>T	ENSP00000365808:p.Val49Met					OSCAR_ENST00000391761.1_Missense_Mutation_p.V38M|OSCAR_ENST00000359649.4_Missense_Mutation_p.V53M|OSCAR_ENST00000356532.3_Missense_Mutation_p.V53M|OSCAR_ENST00000351806.4_Missense_Mutation_p.V38M|OSCAR_ENST00000358375.4_Missense_Mutation_p.V49M|OSCAR_ENST00000391760.1_Intron	p.V49M			Q8IYS5	OSCAR_HUMAN			4	342	-	all_cancers(19;0.0128)|all_epithelial(19;0.00564)|all_lung(19;0.031)|Lung NSC(19;0.0358)|Ovarian(34;0.19)		49			Ig-like 1.		B7WNS2|Q5GRG5|Q8N763|Q8NHL4|Q8WXQ0|Q8WXQ1|Q8WXQ2	Missense_Mutation	SNP	ENST00000284648.6	37	c.145G>A		.	.	.	.	.	.	.	.	.	.	C	15.09	2.728869	0.48833	.	.	ENSG00000170909	ENST00000391761;ENST00000356532;ENST00000359649;ENST00000358375;ENST00000351806;ENST00000284648	T;T;T;T;T;T	0.01215	5.16;5.16;5.16;5.16;5.16;5.16	4.05	2.98	0.34508	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	0.209251	0.22932	U	0.053885	T	0.06188	0.0160	M	0.85859	2.78	0.80722	D	1	D;D;D;D;D;D	0.89917	0.999;0.998;1.0;0.999;1.0;1.0	D;P;D;D;P;D	0.75484	0.923;0.876;0.986;0.912;0.865;0.95	T	0.01448	-1.1352	10	0.87932	D	0	.	8.3272	0.32165	0.0:0.8781:0.0:0.1219	.	49;38;38;53;49;53	Q8IYS5;Q8IYS5-4;Q8IYS5-6;Q8IYS5-7;Q8IYS5-2;Q8IYS5-3	OSCAR_HUMAN;.;.;.;.;.	M	38;53;53;49;38;49	ENSP00000375641:V38M;ENSP00000348927:V53M;ENSP00000352671:V53M;ENSP00000351145:V49M;ENSP00000304523:V38M;ENSP00000365808:V49M	ENSP00000365808:V49M	V	-	1	0	OSCAR	59292189	0.328000	0.24687	0.995000	0.50966	0.530000	0.34684	0.314000	0.19432	2.001000	0.58596	0.585000	0.79938	GTG		0.602	OSCAR-001	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000139493.4	NM_133169		21	54	0	0	0	1	0	21	54					T	54600377	C	T	54600377	3	4	381	1	0	0	0	0	1	0	0	0	11285	536	19	1	852	1	OSCAR	19	54600377	Missense_Mutation	SNP	C	TCGA-V1-A9O5-01A-11D-A41K-08	40076965	54600377	4528606	41	18778											
PCNT	5116	broad.mit.edu	37	chr21	47831939	47831939	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcaccggcgacgtggaggcCtcccatgatgctgctttgga	6	9	14	12	3	1	1	1	1	0	0	2	4	2	3	3	4	2	2	3	4	0	1			TCGA-V1-A9O5-01A-11D-A41K-08	TCGA-V1-A9O5-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b3d6c97-dfa9-4531-b8b6-7d195c52e25b	478f8c5f-260a-4d8a-a4f2-a07a8931f6a1	g.chr21:47831939C>A	ENST00000359568.5	+	28	6059	c.5952C>A	c.(5950-5952)gcC>gcA	p.A1984A	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	1984					brain morphogenesis (GO:0048854)|cerebellar cortex morphogenesis (GO:0021696)|cilium assembly (GO:0042384)|G2/M transition of mitotic cell cycle (GO:0000086)|in utero embryonic development (GO:0001701)|limb morphogenesis (GO:0035108)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|neural precursor cell proliferation (GO:0061351)|neuron migration (GO:0001764)|olfactory bulb development (GO:0021772)|positive regulation of intracellular protein transport (GO:0090316)|spindle organization (GO:0007051)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intercellular bridge (GO:0045171)|membrane (GO:0016020)|microtubule (GO:0005874)|motile cilium (GO:0031514)|pericentriolar material (GO:0000242)				NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					ACGTGGAGGCCTCCCATGATG	0.647																																						ENST00000359568.5																			0				NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104						c.(5950-5952)gcC>gcA		pericentrin							23	26	25					21																	47831939		2191	4265	6456	SO:0001819	synonymous_variant	5116				cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding	g.chr21:47831939C>A	AB007862	CCDS33592.1	21q22.3	2014-02-20	2008-01-30	2005-11-03	ENSG00000160299	ENSG00000160299			16068	protein-coding gene	gene with protein product	"kendrin", "Seckel syndrome 4"	605925	"pericentrin 2 (kendrin)"	PCNT2		8812505, 9455477	Standard	NM_006031		Approved	KEN, KIAA0402, PCN, PCNTB, SCKL4	uc002zji.4	O95613	OTTHUMG00000090665	ENST00000359568.5:c.5952C>A	21.37:g.47831939C>A						PCNT_ENST00000480896.1_3'UTR	p.A1984A	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN			28	6059	+	Breast(49;0.112)		1984					O43152|Q7Z7C9	Silent	SNP	ENST00000359568.5	37	c.5952C>A	CCDS33592.1																																																																																				0.647	PCNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207336.1	NM_006031		5	19	1	0	0.000602214	1	0.000636302	5	19					A	47831939	C	A	47831939	2	1	381	1	0	0	0	0	0	0	0	1	11590	668	24	5		5	PCNT	21	47831939	Silent	SNP	C	TCGA-V1-A9O5-01A-11D-A41K-08		47831939	297956	42	18779											
SSTR3	6753	broad.mit.edu	37	chr22	37603776	37603776	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gcccagggtggcatctggggGccaggccgaggaggcattct	6	6	18	11	1	2	0	0	0	2	0	2	2	2	1	3	7	0	2	3	7	0	1			TCGA-V1-A9O5-01A-11D-A41K-08	TCGA-V1-A9O5-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b3d6c97-dfa9-4531-b8b6-7d195c52e25b	478f8c5f-260a-4d8a-a4f2-a07a8931f6a1	g.chr22:37603776G>A	ENST00000328544.3	-	2	600	c.67C>T	c.(67-69)Ccc>Tcc	p.P23S	SSTR3_ENST00000402501.1_Missense_Mutation_p.P23S	NM_001051.3	NP_001042.1	P32745	SSR3_HUMAN	somatostatin receptor 3	23					cell-cell signaling (GO:0007267)|cellular response to estradiol stimulus (GO:0071392)|cellular response to glucocorticoid stimulus (GO:0071385)|cerebellum development (GO:0021549)|forebrain development (GO:0030900)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|hormone-mediated apoptotic signaling pathway (GO:0008628)|negative regulation of cell proliferation (GO:0008285)|response to starvation (GO:0042594)|somatostatin signaling pathway (GO:0038170)|spermatogenesis (GO:0007283)	ciliary membrane (GO:0060170)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|nonmotile primary cilium (GO:0031513)|plasma membrane (GO:0005886)	somatostatin receptor activity (GO:0004994)			NS(1)|breast(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)	14					Pasireotide(DB06663)	GCATCTGGGGGCCAGGCCGAG	0.637																																						ENST00000328544.3																			0				NS(1)|breast(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)	14						c.(67-69)Ccc>Tcc		somatostatin receptor 3							54	53	53					22																	37603776		2203	4300	6503	SO:0001583	missense	0				G-protein signaling, coupled to cyclic nucleotide second messenger|induction of apoptosis by hormones|negative regulation of cell proliferation	integral to plasma membrane|nonmotile primary cilium	somatostatin receptor activity	g.chr22:37603776G>A		CCDS13944.1	22q13.1	2012-08-08			ENSG00000183473	ENSG00000278195		"GPCR / Class A : Somatostatin receptors"	11332	protein-coding gene	gene with protein product		182453				8449518	Standard	XM_006724311		Approved		uc003arb.3	P32745	OTTHUMG00000150537	ENST00000328544.3:c.67C>T	22.37:g.37603776G>A	ENSP00000330138:p.Pro23Ser					SSTR3_ENST00000402501.1_Missense_Mutation_p.P23S	p.P23S	NM_001051.3	NP_001042.1	P32745	SSR3_HUMAN			2	600	-			23					A8K550|Q53ZR7	Missense_Mutation	SNP	ENST00000328544.3	37	c.67C>T	CCDS13944.1	.	.	.	.	.	.	.	.	.	.	G	3.056	-0.194356	0.06259	.	.	ENSG00000183473	ENST00000328544;ENST00000402501	T;T	0.71698	-0.59;-0.59	5.09	4.08	0.47627	.	1.529280	0.04320	N	0.350542	T	0.55909	0.1950	N	0.22421	0.69	0.31666	N	0.644978	B	0.02656	0.0	B	0.04013	0.001	T	0.50242	-0.8851	10	0.11182	T	0.66	.	6.9643	0.24615	0.0933:0.1918:0.7149:0.0	.	23	P32745	SSR3_HUMAN	S	23	ENSP00000330138:P23S;ENSP00000384904:P23S	ENSP00000330138:P23S	P	-	1	0	SSTR3	35933722	0.904000	0.30761	0.947000	0.38551	0.250000	0.25880	0.571000	0.23669	1.375000	0.46248	0.557000	0.71058	CCC		0.637	SSTR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318802.1			3	42	0	0	0	1	0	3	42					A	37603776	G	A	37603776	3	1	381	1	0	0	0	0	1	0	0	0	15198	1203	42	3	1193	3	SSTR3	22	37603776	Missense_Mutation	SNP	G	TCGA-V1-A9O5-01A-11D-A41K-08		37603776	13700790	43	18780											
DCAF8L1	139425	broad.mit.edu	37	chrX	27997700	27997700	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctcctcctcggatgtatcTgaggtgctggaagactcatc	7	11	10	13	1	2	2	1	1	1	1	6	4	4	4	3	3	1	2	3	3	2	1			TCGA-V1-A9O5-01A-11D-A41K-08	TCGA-V1-A9O5-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b3d6c97-dfa9-4531-b8b6-7d195c52e25b	478f8c5f-260a-4d8a-a4f2-a07a8931f6a1	g.chrX:27997700T>C	ENST00000441525.1	-	1	1866	c.1752A>G	c.(1750-1752)tcA>tcG	p.S584S		NM_001017930.1	NP_001017930.1	A6NGE4	DC8L1_HUMAN	DDB1 and CUL4 associated factor 8-like 1	584										NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(24)|ovary(3)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	56						CGGATGTATCTGAGGTGCTGG	0.522																																						ENST00000441525.1																			0				NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(24)|ovary(3)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	56						c.(1750-1752)tcA>tcG		DDB1 and CUL4 associated factor 8-like 1							120	93	102					X																	27997700		2202	4300	6502	SO:0001819	synonymous_variant	139425							g.chrX:27997700T>C		CCDS35222.1	Xp22.11	2013-01-09	2009-07-17	2009-07-17	ENSG00000226372	ENSG00000226372		"WD repeat domain containing"	31810	protein-coding gene	gene with protein product			"WD repeat domain 42B"	WDR42B			Standard	NM_001017930		Approved		uc004dbx.1	A6NGE4	OTTHUMG00000021312	ENST00000441525.1:c.1752A>G	X.37:g.27997700T>C							p.S584S	NM_001017930.1	NP_001017930.1	A6NGE4	DC8L1_HUMAN			1	1866	-			584					B3KXX1	Silent	SNP	ENST00000441525.1	37	c.1752A>G	CCDS35222.1																																																																																				0.522	DCAF8L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056150.2	XM_066690		40	26	0	0	0	1	0	40	26					C	27997700	T	C	27997700	2	2	381	1	0	0	0	0	0	0	0	1	4277	1567	55	4		4	DCAF8L1	23	27997700	Silent	SNP	T	TCGA-V1-A9O5-01A-11D-A41K-08		27997700	127272860	44	18781											
WNK3	65267	broad.mit.edu	37	chrX	54276007	54276007	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aaagtgcacggtggcatggaTtattttctatagtgagcaat	12	13	11	5	1	1	1	0	1	1	0	1	2	1	2	0	3	2	3	0	3	5	5			TCGA-V1-A9O5-01A-11D-A41K-08	TCGA-V1-A9O5-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b3d6c97-dfa9-4531-b8b6-7d195c52e25b	478f8c5f-260a-4d8a-a4f2-a07a8931f6a1	g.chrX:54276007T>C	ENST00000375159.2	-	16	2773	c.2774A>G	c.(2773-2775)aAt>aGt	p.N925S	WNK3_ENST00000354646.2_Missense_Mutation_p.N925S|WNK3_ENST00000375169.3_Missense_Mutation_p.N925S			Q9BYP7	WNK3_HUMAN	WNK lysine deficient protein kinase 3	925					intracellular signal transduction (GO:0035556)|negative regulation of apoptotic process (GO:0043066)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of ion transmembrane transporter activity (GO:0032414)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of rubidium ion transmembrane transporter activity (GO:2000688)|positive regulation of rubidium ion transport (GO:2000682)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of ion homeostasis (GO:2000021)	adherens junction (GO:0005912)|cytoplasm (GO:0005737)|tight junction (GO:0005923)	ATP binding (GO:0005524)|chloride channel inhibitor activity (GO:0019869)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			autonomic_ganglia(1)|biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(24)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						GTGGCATGGATTATTTTCTAT	0.408																																						ENST00000354646.2																			0				autonomic_ganglia(1)|biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(24)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						c.(2773-2775)aAt>aGt		WNK lysine deficient protein kinase 3							103	100	101					X																	54276007		2203	4300	6503	SO:0001583	missense	65267				intracellular protein kinase cascade|positive regulation of establishment of protein localization in plasma membrane|positive regulation of peptidyl-threonine phosphorylation|positive regulation of rubidium ion transmembrane transporter activity|positive regulation of rubidium ion transport|positive regulation of sodium ion transmembrane transporter activity|positive regulation of sodium ion transport|protein autophosphorylation	adherens junction|tight junction	ATP binding|protein binding|protein serine/threonine kinase activity|rubidium ion transmembrane transporter activity|sodium ion transmembrane transporter activity	g.chrX:54276007T>C	AJ409088	CCDS14357.1, CCDS35302.1	Xp11.22	2008-05-14	2005-01-19	2005-01-22	ENSG00000196632	ENSG00000196632			14543	protein-coding gene	gene with protein product		300358	"protein kinase, lysine deficient 3"	PRKWNK3			Standard	NM_020922		Approved		uc004dtc.2	Q9BYP7	OTTHUMG00000021626	ENST00000375159.2:c.2774A>G	X.37:g.54276007T>C	ENSP00000364301:p.Asn925Ser					WNK3_ENST00000375159.2_Missense_Mutation_p.N925S|WNK3_ENST00000375169.3_Missense_Mutation_p.N925S	p.N925S	NM_020922.4	NP_065973.2	Q9BYP7	WNK3_HUMAN			17	3212	-			925					B1AKG2|Q5JRC1|Q6JP76|Q8TCX6|Q9HCK6	Missense_Mutation	SNP	ENST00000375159.2	37	c.2774A>G	CCDS14357.1	.	.	.	.	.	.	.	.	.	.	T	5.514	0.279878	0.10458	.	.	ENSG00000196632	ENST00000375169;ENST00000354646;ENST00000375159	T;T;T	0.70164	-0.42;-0.46;-0.46	4.72	2.16	0.27623	.	0.574322	0.16726	N	0.202052	T	0.39384	0.1076	N	0.24115	0.695	0.09310	N	1	B;B	0.32467	0.372;0.068	B;B	0.30855	0.121;0.009	T	0.22347	-1.0219	10	0.06757	T	0.87	-4.2947	1.4534	0.02380	0.1761:0.1059:0.1785:0.5396	.	925;925	Q9BYP7-3;Q9BYP7	.;WNK3_HUMAN	S	925	ENSP00000364312:N925S;ENSP00000346667:N925S;ENSP00000364301:N925S	ENSP00000346667:N925S	N	-	2	0	WNK3	54292732	1.000000	0.71417	1.000000	0.80357	0.874000	0.50279	0.837000	0.27558	0.542000	0.28846	0.441000	0.28932	AAT		0.408	WNK3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056799.2	NM_020922		53	16	0	0	0	1	0	53	16					C	54276007	T	C	54276007	3	2	381	1	0	0	0	0	1	0	0	0	17376	1493	52	4	2660	4	WNK3	23	54276007	Missense_Mutation	SNP	T	TCGA-V1-A9O5-01A-11D-A41K-08	26278307	54276007	100994553	45	18782											
PDZD4	57595	broad.mit.edu	37	chrX	153074040	153074040	+	Frame_Shift_Del	DEL	T	T	-																															gagacagcttggagagctccTtcccgttcacctgcggcaga																										TCGA-V1-A9O5-01A-11D-A41K-08	TCGA-V1-A9O5-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b3d6c97-dfa9-4531-b8b6-7d195c52e25b	478f8c5f-260a-4d8a-a4f2-a07a8931f6a1	g.chrX:153074040delT	ENST00000164640.4	-	2	262	c.71delA	c.(70-72)aagfs	p.K24fs	PDZD4_ENST00000393758.2_5'UTR|PDZD4_ENST00000475140.1_5'UTR|PDZD4_ENST00000544474.1_Intron	NM_032512.2	NP_115901.2	Q76G19	PDZD4_HUMAN	PDZ domain containing 4	24						cytoplasm (GO:0005737)				breast(3)|cervix(1)|endometrium(5)|lung(13)|skin(1)	23	all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GGAGAGCTCCTTCCCGTTCAC	0.647																																						ENST00000164640.4																			0				breast(3)|cervix(1)|endometrium(5)|lung(13)|skin(1)	23						c.(70-72)agfs		PDZ domain containing 4							39	31	34					X																	153074040		2198	4295	6493	SO:0001589	frameshift_variant	57595					cell cortex		g.chrX:153074040delT	AK091444	CCDS14732.1	Xq28	2008-02-05		2006-01-24	ENSG00000067840	ENSG00000067840			21167	protein-coding gene	gene with protein product		300634		PDZK4		10819331, 15077175	Standard	NM_032512		Approved	KIAA1444, LU1, FLJ34125, PDZRN4L	uc004fiz.1	Q76G19	OTTHUMG00000024209	ENST00000164640.4:c.71delA	X.37:g.153074040delT	ENSP00000164640:p.Lys24fs					PDZD4_ENST00000475140.1_5'UTR|PDZD4_ENST00000393758.2_5'UTR|PDZD4_ENST00000544474.1_Intron	p.K24fs	NM_032512.2	NP_115901.2	Q76G19	PDZD4_HUMAN			2	262	-	all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		24					B3KXB1|B7ZKY3|Q8NB75|Q9BUH9|Q9P284	Frame_Shift_Del	DEL	ENST00000164640.4	37	c.71delA	CCDS14732.1																																																																																				0.647	PDZD4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061013.3	NM_032512		2	4						2	4	---	---	---	---	-	153074040	T	-	153074040	7	5	381	1	0	1	0	1	0	0	0	0	11703	1609	56	0	2266	0	PDZD4	23	153074040	Frame_Shift_Del	DEL	T	TCGA-V1-A9O5-01A-11D-A41K-08	98798033	153074040	2196520	46	18783											
PDE4DIP	9659	broad.mit.edu	37	chr1	144886148	144886148	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcaatttgagcctttagcTccttcagttcctcctcagct	6	15	5	15	0	3	1	3	1	0	0	6	1	6	1	5	0	3	3	5	0	2	5			TCGA-V1-A9O7-01A-21D-A41K-08	TCGA-V1-A9O7-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d67abdf6-e826-413f-b727-c871fac872c0	e26ab21d-ac72-4d81-b54d-2b6673106efc	g.chr1:144886148T>C	ENST00000369354.3	-	23	3275	c.3086A>G	c.(3085-3087)gAg>gGg	p.E1029G	PDE4DIP_ENST00000313382.9_Missense_Mutation_p.E1095G|PDE4DIP_ENST00000369359.4_Missense_Mutation_p.E1166G|PDE4DIP_ENST00000530740.1_Missense_Mutation_p.E1166G|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.E1029G|PDE4DIP_ENST00000524974.1_5'UTR			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	1029					cellular protein complex assembly (GO:0043623)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|myofibril (GO:0030016)|nucleus (GO:0005634)	enzyme binding (GO:0019899)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		AGCCTTTAGCTCCTTCAGTTC	0.522			T	PDGFRB	MPD																																	ENST00000369359.4				Dom	yes		1	1q12	9659	T	phosphodiesterase 4D interacting protein (myomegalin)			L	PDGFRB		MPD		0				NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176						c.(3496-3498)gAg>gGg		phosphodiesterase 4D interacting protein							206	180	189					1																	144886148		2203	4296	6499	SO:0001583	missense	9659				cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding	g.chr1:144886148T>C	AB007923, AB007946	CCDS72887.1, CCDS72888.1, CCDS72889.1, CCDS72890.1, CCDS72891.1, CCDS72892.1, CCDS72893.1, CCDS72894.1	1q21.1	2008-07-31	2008-07-31		ENSG00000178104	ENSG00000178104			15580	protein-coding gene	gene with protein product	"myomegalin"	608117	"cardiomyopathy associated 2"	CMYA2		9455484, 11134006	Standard	NM_022359		Approved	KIAA0477, KIAA0454, MMGL	uc021ouh.1	Q5VU43	OTTHUMG00000013846	ENST00000369354.3:c.3086A>G	1.37:g.144886148T>C	ENSP00000358360:p.Glu1029Gly					PDE4DIP_ENST00000524974.1_5'UTR|PDE4DIP_ENST00000530740.1_Missense_Mutation_p.E1166G|PDE4DIP_ENST00000369354.3_Missense_Mutation_p.E1029G|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.E1029G|PDE4DIP_ENST00000313382.9_Missense_Mutation_p.E1095G	p.E1166G			Q5VU43	MYOME_HUMAN		Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)	26	3535	-			1029					A2RU15|O75042|O75065|Q2YDC1|Q5VU42|Q5VU44|Q5VU45|Q5VU46|Q5VU47|Q5VU48|Q5VU49|Q68DU2|Q6AZ93|Q6PK88|Q86T40|Q86TB2|Q8N3W0|Q8TAY9|Q9HCP2|Q9HCP3|Q9HCP4|Q9HCP5	Missense_Mutation	SNP	ENST00000369354.3	37	c.3497A>G	CCDS30824.1	.	.	.	.	.	.	.	.	.	.	T	17.47	3.397730	0.62177	.	.	ENSG00000178104	ENST00000313382;ENST00000369354;ENST00000369356;ENST00000530740;ENST00000369359	T;T;T;T;T	0.02067	4.47;4.61;4.61;4.62;4.62	5.56	5.56	0.83823	.	.	.	.	.	T	0.00967	0.0032	N	0.14661	0.345	0.80722	D	1	P;P	0.46395	0.873;0.877	P;B	0.46659	0.523;0.411	T	0.71774	-0.4491	9	0.27082	T	0.32	.	9.0503	0.36372	0.164:0.0:0.0:0.836	.	1095;1029	Q5VU43-3;Q5VU43	.;MYOME_HUMAN	G	1095;1029;1029;1166;1166	ENSP00000327209:E1095G;ENSP00000358360:E1029G;ENSP00000358363:E1029G;ENSP00000435654:E1166G;ENSP00000358366:E1166G	ENSP00000327209:E1095G	E	-	2	0	PDE4DIP	143597505	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.969000	0.63735	2.128000	0.65567	0.459000	0.35465	GAG		0.522	PDE4DIP-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000038858.2	NM_022359		5	219	0	0	0	1	0	5	219					C	144886148	T	C	144886148	3	2	382	1	0	0	0	0	1	0	0	0	11643	1551	54	4	4042	4	PDE4DIP	1	144886148	Missense_Mutation	SNP	T	TCGA-V1-A9O7-01A-21D-A41K-08		144886148	104364473	1	18784											
NUP210L	91181	broad.mit.edu	37	chr1	154113942	154113942	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agttcttctcttgctgactcGttgtcctgggcaatgctcca	5	15	9	12	1	2	1	0	1	2	0	6	1	4	1	2	1	2	5	2	1	1	4			TCGA-V1-A9O7-01A-21D-A41K-08	TCGA-V1-A9O7-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d67abdf6-e826-413f-b727-c871fac872c0	e26ab21d-ac72-4d81-b54d-2b6673106efc	g.chr1:154113942G>A	ENST00000368559.3	-	4	602	c.531C>T	c.(529-531)aaC>aaT	p.N177N	NUP210L_ENST00000271854.3_Silent_p.N177N	NM_207308.2	NP_997191.2	Q5VU65	P210L_HUMAN	nucleoporin 210kDa-like	177					Sertoli cell development (GO:0060009)|spermatid development (GO:0007286)	integral component of membrane (GO:0016021)		p.N177K(1)		NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)			TTGCTGACTCGTTGTCCTGGG	0.413																																						ENST00000368559.3																			1	Substitution - Missense(1)	p.N177K(1)	breast(1)	NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80						c.(529-531)aaC>aaT		nucleoporin 210kDa-like							175	158	164					1																	154113942		1963	4168	6131	SO:0001819	synonymous_variant	91181					integral to membrane		g.chr1:154113942G>A	AK125924	CCDS41399.1, CCDS53370.1	1q21.3	2008-02-05			ENSG00000143552	ENSG00000143552			29915	protein-coding gene	gene with protein product							Standard	NM_207308		Approved		uc001fdw.3	Q5VU65	OTTHUMG00000035852	ENST00000368559.3:c.531C>T	1.37:g.154113942G>A						NUP210L_ENST00000271854.3_Silent_p.N177N	p.N177N	NM_207308.2	NP_997191.2	Q5VU65	P210L_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)		4	602	-	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		177					E7EP56|Q5T4L7|Q6ZRN1|Q6ZRT4|Q6ZU81|Q8NDI6|Q9UF31	Silent	SNP	ENST00000368559.3	37	c.531C>T	CCDS41399.1																																																																																				0.413	NUP210L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087270.3	NM_207308		7	101	0	0	0	1	0	7	101					A	154113942	G	A	154113942	2	1	382	1	0	0	0	0	0	0	0	1	10761	1136	40	1		1	NUP210L	1	154113942	Silent	SNP	G	TCGA-V1-A9O7-01A-21D-A41K-08	9227794	154113942	95136679	2	18785											
OR10J5	127385	broad.mit.edu	37	chr1	159505743	159505743	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tatctgatgctttccaaagcTagaaaatcccaagaaaatga	17	10	6	8	0	1	4	0	2	1	2	3	4	3	4	2	0	2	2	2	0	8	3	rs200510791		TCGA-V1-A9O7-01A-21D-A41K-08	TCGA-V1-A9O7-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d67abdf6-e826-413f-b727-c871fac872c0	e26ab21d-ac72-4d81-b54d-2b6673106efc	g.chr1:159505743T>C	ENST00000334857.2	-	1	99	c.55A>G	c.(55-57)Agc>Ggc	p.S19G		NM_001004469.1	NP_001004469.1	Q8NHC4	O10J5_HUMAN	olfactory receptor, family 10, subfamily J, member 5	19						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	22	all_hematologic(112;0.0429)					TTTCCAAAGCTAGAAAATCCC	0.373																																						ENST00000334857.2																			0				kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	22						c.(55-57)Agc>Ggc		olfactory receptor, family 10, subfamily J, member 5		T	GLY/SER	0,4406		0,0,2203	79	78	78		55	3.3	0.1	1		78	2,8598	2.2+/-6.3	0,2,4298	no	missense	OR10J5	NM_001004469.1	56	0,2,6501	CC,CT,TT		0.0233,0.0,0.0154	benign	19/310	159505743	2,13004	2203	4300	6503	SO:0001583	missense	127385				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:159505743T>C		CCDS30910.1	1q23.2	2012-08-09			ENSG00000184155	ENSG00000184155		"GPCR / Class A : Olfactory receptors"	14993	protein-coding gene	gene with protein product							Standard	NM_001004469		Approved		uc010piw.2	Q8NHC4	OTTHUMG00000022738	ENST00000334857.2:c.55A>G	1.37:g.159505743T>C	ENSP00000334441:p.Ser19Gly						p.S19G	NM_001004469.1	NP_001004469.1	Q8NHC4	O10J5_HUMAN			1	99	-	all_hematologic(112;0.0429)		19					B9EH35|Q6IFH2	Missense_Mutation	SNP	ENST00000334857.2	37	c.55A>G	CCDS30910.1	.	.	.	.	.	.	.	.	.	.	T	6.146	0.395146	0.11638	0.0	2.33E-4	ENSG00000184155	ENST00000334857	T	0.00000	10.25	4.43	3.29	0.37713	.	.	.	.	.	T	0.00012	0.0000	L	0.28776	0.89	0.09310	N	1	B	0.10296	0.003	B	0.10450	0.005	T	0.42816	-0.9429	9	0.40728	T	0.16	.	6.1544	0.20330	0.0:0.2014:0.0:0.7986	.	19	Q8NHC4	O10J5_HUMAN	G	19	ENSP00000334441:S19G	ENSP00000334441:S19G	S	-	1	0	OR10J5	157772367	0.000000	0.05858	0.077000	0.20336	0.259000	0.26198	0.073000	0.14640	0.822000	0.34565	0.455000	0.32223	AGC		0.373	OR10J5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059021.1	NM_001004469		6	103	0	0	0	1	0	6	103					C	159505743	T	C	159505743	3	2	382	1	0	0	0	0	1	0	0	0	10912	1522	53	4	876	4	OR10J5	1	159505743	Missense_Mutation	SNP	T	TCGA-V1-A9O7-01A-21D-A41K-08	5391801	159505743	89744878	3	18786											
ALMS1	7840	broad.mit.edu	37	chr2	73680580	73680580	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttcaaagaaccctcttccaCgggtgtatctaatggtgatt	10	13	8	10	1	3	2	1	1	2	1	4	2	4	2	2	2	1	1	2	2	4	5	rs147001219		TCGA-V1-A9O7-01A-21D-A41K-08	TCGA-V1-A9O7-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d67abdf6-e826-413f-b727-c871fac872c0	e26ab21d-ac72-4d81-b54d-2b6673106efc	g.chr2:73680580C>T	ENST00000264448.6	+	8	7034	c.6923C>T	c.(6922-6924)aCg>aTg	p.T2308M	ALMS1_ENST00000377715.1_Missense_Mutation_p.T2308M|ALMS1_ENST00000409009.1_Missense_Mutation_p.T2266M	NM_015120.4	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	2308					endosomal transport (GO:0016197)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of stress fiber assembly (GO:0051492)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						CCCTCTTCCACGGGTGTATCT	0.438																																						ENST00000264448.6																			0				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						c.(6922-6924)aCg>aTg		Alstrom syndrome 1		C	MET/THR	0,3740		0,0,1870	82	79	80		6923	3.5	0.2	2	dbSNP_134	80	1,8185		0,1,4092	no	missense	ALMS1	NM_015120.4	81	0,1,5962	TT,TC,CC		0.0122,0.0,0.0084	probably-damaging	2308/4168	73680580	1,11925	1870	4093	5963	SO:0001583	missense	7840				G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole		g.chr2:73680580C>T	AB002326	CCDS42697.1	2p13.1	2014-09-17			ENSG00000116127	ENSG00000116127			428	protein-coding gene	gene with protein product		606844				9063741	Standard	NM_015120		Approved	KIAA0328	uc002sje.1	Q8TCU4	OTTHUMG00000152812	ENST00000264448.6:c.6923C>T	2.37:g.73680580C>T	ENSP00000264448:p.Thr2308Met					ALMS1_ENST00000377715.1_Missense_Mutation_p.T2308M|ALMS1_ENST00000409009.1_Missense_Mutation_p.T2266M	p.T2308M	NM_015120.4	NP_055935.4	Q8TCU4	ALMS1_HUMAN			8	7034	+			2308					Q53S05|Q580Q8|Q86VP9|Q9Y4G4	Missense_Mutation	SNP	ENST00000264448.6	37	c.6923C>T	CCDS42697.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	8.660	0.900410	0.17686	0.0	1.22E-4	ENSG00000116127	ENST00000409009;ENST00000264448;ENST00000377715	T;T;T	0.16196	3.24;3.24;2.36	5.36	3.46	0.39613	.	0.670158	0.13854	N	0.358137	T	0.22742	0.0549	L	0.34521	1.04	0.09310	N	1	D;D;D	0.71674	0.998;0.995;0.995	P;P;P	0.58130	0.833;0.799;0.799	T	0.05053	-1.0909	10	0.72032	D	0.01	.	7.2001	0.25877	0.1686:0.7397:0.0:0.0917	.	2308;2266;2308	Q8TCU4-3;B8ZZJ3;Q8TCU4	.;.;ALMS1_HUMAN	M	2266;2308;2308	ENSP00000386627:T2266M;ENSP00000264448:T2308M;ENSP00000366944:T2308M	ENSP00000264448:T2308M	T	+	2	0	ALMS1	73534088	0.003000	0.15002	0.199000	0.23439	0.014000	0.08584	0.426000	0.21363	1.397000	0.46682	0.655000	0.94253	ACG		0.438	ALMS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000327776.1	NM_015120		6	75	0	0	0	1	0	6	75					T	73680580	C	T	73680580	3	4	382	1	0	0	0	0	1	0	0	0	535	536	19	1	6953	1	ALMS1	2	73680580	Missense_Mutation	SNP	C	TCGA-V1-A9O7-01A-21D-A41K-08		73680580	169518793	4	18787											
PLCL1	5334	broad.mit.edu	37	chr2	198949686	198949686	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aaataaatttgcctttgttgCttctgaatacccactcattc	11	16	4	10	0	2	1	1	1	1	0	3	1	2	1	2	0	3	2	2	0	5	7			TCGA-V1-A9O7-01A-21D-A41K-08	TCGA-V1-A9O7-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d67abdf6-e826-413f-b727-c871fac872c0	e26ab21d-ac72-4d81-b54d-2b6673106efc	g.chr2:198949686C>T	ENST00000428675.1	+	2	1843	c.1445C>T	c.(1444-1446)gCt>gTt	p.A482V	PLCL1_ENST00000437704.2_Missense_Mutation_p.A384V	NM_006226.3	NP_006217.3	Q15111	PLCL1_HUMAN	phospholipase C-like 1	482	PI-PLC X-box. {ECO:0000255|PROSITE- ProRule:PRU00270}.				gamma-aminobutyric acid signaling pathway (GO:0007214)|intracellular signal transduction (GO:0035556)|lipid metabolic process (GO:0006629)|positive regulation of receptor binding (GO:1900122)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of synaptic transmission, GABAergic (GO:0032228)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|inositol 1,4,5 trisphosphate binding (GO:0070679)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	80					Quinacrine(DB01103)	GCCTTTGTTGCTTCTGAATAC	0.393																																						ENST00000428675.1																			0				autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	80						c.(1444-1446)gCt>gTt		phospholipase C-like 1	Quinacrine(DB01103)						72	70	71					2																	198949686		2203	4300	6503	SO:0001583	missense	5334				intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr2:198949686C>T	D42108	CCDS2326.1, CCDS2326.2	2q33	2014-06-13	2002-02-18	2002-02-22	ENSG00000115896	ENSG00000115896			9063	protein-coding gene	gene with protein product	"phospholipase C related, but catalytically inactive protein", "protein phosphatase 1, regulatory subunit 127"	600597	"phospholipase C, epsilon"	PLCE		7633416	Standard	NM_006226		Approved	PLC-L, PLCL, PRIP, PPP1R127	uc010fsp.3	Q15111	OTTHUMG00000132750	ENST00000428675.1:c.1445C>T	2.37:g.198949686C>T	ENSP00000402861:p.Ala482Val					PLCL1_ENST00000437704.2_Missense_Mutation_p.A384V	p.A482V	NM_006226.3	NP_006217.3	Q15111	PLCL1_HUMAN			2	1843	+			482			PI-PLC X-box.		Q3MJ90|Q53SD3|Q7Z3S3	Missense_Mutation	SNP	ENST00000428675.1	37	c.1445C>T	CCDS2326.2	.	.	.	.	.	.	.	.	.	.	C	15.91	2.971817	0.53614	.	.	ENSG00000115896	ENST00000428675;ENST00000437704	T;T	0.64260	-0.09;-0.09	5.94	5.94	0.96194	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);Phospholipase C, phosphatidylinositol-specific , X domain (3);	0.000000	0.64402	D	0.000003	T	0.62024	0.2394	L	0.51422	1.61	0.54753	D	0.999988	P;B	0.36837	0.571;0.417	B;B	0.38921	0.285;0.213	T	0.57189	-0.7854	9	.	.	.	.	20.3633	0.98874	0.0:1.0:0.0:0.0	.	482;408	Q15111;B4DYZ4	PLCL1_HUMAN;.	V	482;384	ENSP00000402861:A482V;ENSP00000414138:A384V	.	A	+	2	0	PLCL1	198657931	1.000000	0.71417	0.998000	0.56505	0.861000	0.49209	7.808000	0.86044	2.826000	0.97356	0.561000	0.74099	GCT		0.393	PLCL1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340210.1	NM_006226		6	47	0	0	0	1	0	6	47					T	198949686	C	T	198949686	3	4	382	1	0	0	0	0	1	0	0	0	12039	797	28	3	1451	3	PLCL1	2	198949686	Missense_Mutation	SNP	C	TCGA-V1-A9O7-01A-21D-A41K-08	125269106	198949686	44249687	5	18788											
CYP2U1	113612	broad.mit.edu	37	chr4	108868606	108868606	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tcacagacaaggcccagatgCcctacacagaagccaccatc	14	4	7	16	0	1	3	1	0	0	3	2	3	1	3	4	1	3	0	4	1	3	1			TCGA-V1-A9O7-01A-21D-A41K-08	TCGA-V1-A9O7-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d67abdf6-e826-413f-b727-c871fac872c0	e26ab21d-ac72-4d81-b54d-2b6673106efc	g.chr4:108868606C>T	ENST00000332884.6	+	3	1476	c.1201C>T	c.(1201-1203)Ccc>Tcc	p.P401S	CYP2U1_ENST00000508453.1_Missense_Mutation_p.P192S|RP11-286E11.1_ENST00000513071.1_RNA	NM_183075.2	NP_898898.1	Q7Z449	CP2U1_HUMAN	cytochrome P450, family 2, subfamily U, polypeptide 1	401					arachidonic acid metabolic process (GO:0019369)|cell death (GO:0008219)|omega-hydroxylase P450 pathway (GO:0097267)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			breast(1)|large_intestine(2)|lung(4)|skin(2)|urinary_tract(1)	10		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000128)		GGCCCAGATGCCCTACACAGA	0.488																																						ENST00000332884.6																			0				breast(1)|large_intestine(2)|lung(4)|skin(2)|urinary_tract(1)	10						c.(1201-1203)Ccc>Tcc		cytochrome P450, family 2, subfamily U, polypeptide 1							105	95	98					4																	108868606		2203	4300	6503	SO:0001583	missense	113612				xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding	g.chr4:108868606C>T	BC012027	CCDS34047.1	4q25	2012-11-23			ENSG00000155016	ENSG00000155016		"Cytochrome P450s"	20582	protein-coding gene	gene with protein product	"spastic paraplegia 49"	610670				14975754, 14660610	Standard	XM_005262717		Approved	SPG49	uc003hyp.3	Q7Z449	OTTHUMG00000161084	ENST00000332884.6:c.1201C>T	4.37:g.108868606C>T	ENSP00000333212:p.Pro401Ser					RP11-286E11.1_ENST00000513071.1_RNA|CYP2U1_ENST00000508453.1_Missense_Mutation_p.P192S	p.P401S	NM_183075.2	NP_898898.1	Q7Z449	CP2U1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000128)	3	1476	+		Hepatocellular(203;0.217)	401					B2RMV7|Q96EQ6	Missense_Mutation	SNP	ENST00000332884.6	37	c.1201C>T	CCDS34047.1	.	.	.	.	.	.	.	.	.	.	C	34	5.371092	0.95923	.	.	ENSG00000155016	ENST00000332884;ENST00000424249;ENST00000508453	T;T	0.74842	-0.88;-0.88	6.08	6.08	0.98989	.	0.000000	0.85682	D	0.000000	D	0.90331	0.6975	M	0.92268	3.29	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.91333	0.5091	10	0.87932	D	0	.	20.6721	0.99693	0.0:1.0:0.0:0.0	.	401	Q7Z449	CP2U1_HUMAN	S	401;358;192	ENSP00000333212:P401S;ENSP00000423667:P192S	ENSP00000333212:P401S	P	+	1	0	CYP2U1	109088055	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	7.487000	0.81328	2.894000	0.99253	0.591000	0.81541	CCC		0.488	CYP2U1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363691.2	NM_183075		4	61	0	0	0	1	0	4	61					T	108868606	C	T	108868606	3	4	382	1	0	0	0	0	1	0	0	0	4175	739	26	3	1211	3	CYP2U1	4	108868606	Missense_Mutation	SNP	C	TCGA-V1-A9O7-01A-21D-A41K-08		108868606	82285670	6	18789											
GRIA1	2890	broad.mit.edu	37	chr5	153190676	153190676	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ggcaggagccagcagcggcgGcagtggagagaatggtcggg	9	3	21	8	3	0	1	0	0	0	1	1	4	0	3	1	7	3	3	1	7	1	0			TCGA-V1-A9O7-01A-21D-A41K-08	TCGA-V1-A9O7-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d67abdf6-e826-413f-b727-c871fac872c0	e26ab21d-ac72-4d81-b54d-2b6673106efc	g.chr5:153190676G>T	ENST00000285900.5	+	16	2955	c.2612G>T	c.(2611-2613)gGc>gTc	p.G871V	GRIA1_ENST00000518783.1_Missense_Mutation_p.G881V|GRIA1_ENST00000340592.5_Missense_Mutation_p.G871V|GRIA1_ENST00000518142.1_Missense_Mutation_p.G791V|GRIA1_ENST00000521843.2_Missense_Mutation_p.G802V|GRIA1_ENST00000448073.4_Missense_Mutation_p.G881V	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1	871					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|long-term memory (GO:0007616)|receptor internalization (GO:0031623)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|axonal spine (GO:0044308)|cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|dendrite membrane (GO:0032590)|dendritic spine (GO:0043197)|endocytic vesicle membrane (GO:0030666)|endoplasmic reticulum (GO:0005783)|neuron spine (GO:0044309)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|PDZ domain binding (GO:0030165)			NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Perampanel(DB08883)|Sevoflurane(DB01236)	AGCAGCGGCGGCAGTGGAGAG	0.582																																						ENST00000285900.5																			0				NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81						c.(2611-2613)gGc>gTc		glutamate receptor, ionotropic, AMPA 1	Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)						47	50	49					5																	153190676		2203	4300	6503	SO:0001583	missense	0				synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding	g.chr5:153190676G>T		CCDS4322.1, CCDS47318.1, CCDS58986.1, CCDS58987.1, CCDS58988.1, CCDS58989.1	5q33	2012-08-29			ENSG00000155511	ENSG00000155511		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4571	protein-coding gene	gene with protein product		138248		GLUR1		1652753, 1319477	Standard	NM_000827		Approved	GluA1, GLURA	uc011dcy.2	P42261	OTTHUMG00000130148	ENST00000285900.5:c.2612G>T	5.37:g.153190676G>T	ENSP00000285900:p.Gly871Val					GRIA1_ENST00000340592.5_Missense_Mutation_p.G871V|GRIA1_ENST00000518783.1_Missense_Mutation_p.G881V|GRIA1_ENST00000518142.1_Missense_Mutation_p.G791V|GRIA1_ENST00000521843.2_Missense_Mutation_p.G802V|GRIA1_ENST00000448073.4_Missense_Mutation_p.G881V	p.G871V	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		16	2955	+		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	871					B7Z2S0|B7Z2W8|B7Z3F6|B7Z9G9|D3DQI4|E7ESV8|Q2NKM6	Missense_Mutation	SNP	ENST00000285900.5	37	c.2612G>T	CCDS4322.1	.	.	.	.	.	.	.	.	.	.	G	12.84	2.057991	0.36277	.	.	ENSG00000155511	ENST00000285900;ENST00000544403;ENST00000518142;ENST00000340592;ENST00000521843;ENST00000544794;ENST00000518783;ENST00000448073	T;T;T;T;T;T;T	0.12255	2.75;2.7;2.75;2.7;2.7;2.75;2.75	3.78	3.78	0.43462	.	0.097829	0.64402	D	0.000001	T	0.21267	0.0512	N	0.22421	0.69	0.80722	D	1	B;B;B;D;B	0.69078	0.043;0.043;0.105;0.997;0.032	B;B;B;D;B	0.72982	0.016;0.016;0.022;0.979;0.027	T	0.01448	-1.1352	10	0.72032	D	0.01	.	11.4288	0.50027	0.0:0.0:1.0:0.0	.	881;881;791;871;871	E7ESV8;B7Z9G9;B7Z3F6;P42261-2;P42261	.;.;.;.;GRIA1_HUMAN	V	871;871;791;871;804;802;881;881	ENSP00000285900:G871V;ENSP00000427920:G791V;ENSP00000339343:G871V;ENSP00000427864:G804V;ENSP00000442108:G802V;ENSP00000428994:G881V;ENSP00000415569:G881V	ENSP00000285900:G871V	G	+	2	0	GRIA1	153170869	1.000000	0.71417	0.995000	0.50966	0.991000	0.79684	4.841000	0.62824	2.399000	0.81585	0.655000	0.94253	GGC		0.582	GRIA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252456.3			11	45	1	0	2.80697e-09	1	3.04587e-09	11	45					T	153190676	G	T	153190676	3	4	382	1	0	0	0	0	1	0	0	0	6767	1203	42	5	2793	5	GRIA1	5	153190676	Missense_Mutation	SNP	G	TCGA-V1-A9O7-01A-21D-A41K-08		153190676	27724584	7	18790											
SIRT5	23408	broad.mit.edu	37	chr6	13612065	13612065	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaacgactcttcctgaagccCttgcctgtcatgaaaatgaa	12	10	8	11	1	2	3	1	3	1	0	3	5	3	3	3	0	3	0	3	0	5	2			TCGA-V1-A9O7-01A-21D-A41K-08	TCGA-V1-A9O7-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d67abdf6-e826-413f-b727-c871fac872c0	e26ab21d-ac72-4d81-b54d-2b6673106efc	g.chr6:13612065C>A	ENST00000606117.1	+	10	1197	c.901C>A	c.(901-903)Ctt>Att	p.L301I	SIRT5_ENST00000397350.2_Missense_Mutation_p.L193I|RP1-223E5.4_ENST00000566170.1_RNA|SIRT5_ENST00000359782.3_Missense_Mutation_p.L283I	NM_012241.4	NP_036373.1			sirtuin 5											breast(1)|endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	11	Breast(50;0.00669)|Ovarian(93;0.0634)	all_hematologic(90;0.117)	Epithelial(50;0.176)			TCCTGAAGCCCTTGCCTGTCA	0.423																																						ENST00000606117.1																			0				breast(1)|endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	11						c.(901-903)Ctt>Att		sirtuin 5	Suramin(DB04786)						302	301	301					6																	13612065		2203	4300	6503	SO:0001583	missense	23408				chromatin silencing|protein ADP-ribosylation|protein deacetylation	mitochondrial intermembrane space|mitochondrial matrix	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides|NAD+ ADP-ribosyltransferase activity|NAD+ binding|zinc ion binding	g.chr6:13612065C>A	AF083110	CCDS4526.1, CCDS4527.1, CCDS54966.1, CCDS56398.1	6p23	2010-08-05	2010-06-25		ENSG00000124523	ENSG00000124523			14933	protein-coding gene	gene with protein product		604483	"sirtuin (silent mating type information regulation 2, S.cerevisiae, homolog) 5", "sirtuin (silent mating type information regulation 2 homolog) 5 (S. cerevisiae)"			10381378	Standard	NM_012241		Approved		uc003nay.3	Q9NXA8	OTTHUMG00000014278	ENST00000606117.1:c.901C>A	6.37:g.13612065C>A	ENSP00000476228:p.Leu301Ile					SIRT5_ENST00000397350.2_Missense_Mutation_p.L193I|SIRT5_ENST00000359782.3_Missense_Mutation_p.L283I	p.L301I	NM_012241.4	NP_036373.1	Q9NXA8	SIRT5_HUMAN	Epithelial(50;0.176)		10	1197	+	Breast(50;0.00669)|Ovarian(93;0.0634)	all_hematologic(90;0.117)	301			Deacetylase sirtuin-type.			Missense_Mutation	SNP	ENST00000606117.1	37	c.901C>A	CCDS4526.1	.	.	.	.	.	.	.	.	.	.	C	17.36	3.370525	0.61624	.	.	ENSG00000124523	ENST00000359782;ENST00000397350;ENST00000379250	T;T;T	0.30981	2.06;1.51;2.04	5.5	5.5	0.81552	.	0.067226	0.64402	D	0.000007	T	0.34106	0.0886	M	0.64567	1.98	0.48040	D	0.999576	B;B	0.25809	0.135;0.083	P;B	0.46110	0.504;0.307	T	0.18461	-1.0336	10	0.37606	T	0.19	-24.7139	13.4927	0.61405	0.1566:0.8434:0.0:0.0	.	283;301	F5H5Z9;Q9NXA8	.;SIRT5_HUMAN	I	283;193;301	ENSP00000352830:L283I;ENSP00000380509:L193I;ENSP00000368552:L301I	ENSP00000352830:L283I	L	+	1	0	SIRT5	13720044	1.000000	0.71417	0.996000	0.52242	0.802000	0.45316	3.102000	0.50291	2.729000	0.93468	0.650000	0.86243	CTT		0.423	SIRT5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039908.2			5	320	1	0	8.12818e-05	1	8.6362e-05	5	320					A	13612065	C	A	13612065	3	1	382	1	0	0	0	0	1	0	0	0	14341	681	24	5	978	5	SIRT5	6	13612065	Missense_Mutation	SNP	C	TCGA-V1-A9O7-01A-21D-A41K-08		13612065	157503002	8	18791											
EHMT2	10919	broad.mit.edu	37	chr6	31852259	31852259	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcgcaaaccacacgtcggagCgctcgggagtcaggtcccat	9	5	13	14	5	1	0	1	0	0	0	4	2	2	2	2	3	2	2	2	3	1	0	rs143327875		TCGA-V1-A9O7-01A-21D-A41K-08	TCGA-V1-A9O7-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d67abdf6-e826-413f-b727-c871fac872c0	e26ab21d-ac72-4d81-b54d-2b6673106efc	g.chr6:31852259C>T	ENST00000375537.4	-	21	2687	c.2681G>A	c.(2680-2682)cGc>cAc	p.R894H	EHMT2_ENST00000375530.4_Missense_Mutation_p.R860H|EHMT2-AS1_ENST00000434689.1_RNA|EHMT2_ENST00000395728.3_Missense_Mutation_p.R951H|EHMT2_ENST00000480912.1_5'UTR|EHMT2_ENST00000375528.4_Missense_Mutation_p.R917H	NM_006709.3	NP_006700.3	Q96KQ7	EHMT2_HUMAN	euchromatic histone-lysine N-methyltransferase 2	894					DNA methylation (GO:0006306)|DNA methylation on cytosine within a CG sequence (GO:0010424)|fertilization (GO:0009566)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|organ growth (GO:0035265)|peptidyl-lysine dimethylation (GO:0018027)|regulation of DNA replication (GO:0006275)|spermatid development (GO:0007286)|synaptonemal complex assembly (GO:0007130)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|histone methyltransferase activity (H3-K27 specific) (GO:0046976)|histone methyltransferase activity (H3-K9 specific) (GO:0046974)|histone-lysine N-methyltransferase activity (GO:0018024)|p53 binding (GO:0002039)|protein-lysine N-methyltransferase activity (GO:0016279)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)	21						CACGTCGGAGCGCTCGGGAGT	0.607																																						ENST00000395728.3																			0				central_nervous_system(1)|cervix(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)	21						c.(2851-2853)cGc>cAc		euchromatic histone-lysine N-methyltransferase 2		C	HIS/ARG,HIS/ARG	1,3021		0,1,1510	149	141	144		2681,2579	5.1	1	6	dbSNP_134	144	0,5418		0,0,2709	no	missense,missense	EHMT2	NM_006709.3,NM_025256.5	29,29	0,1,4219	TT,TC,CC		0.0,0.0331,0.0118	possibly-damaging,possibly-damaging	894/1211,860/1177	31852259	1,8439	1511	2709	4220	SO:0001583	missense	10919				DNA methylation|peptidyl-lysine dimethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding	g.chr6:31852259C>T	AF134726	CCDS4725.1, CCDS4726.1, CCDS75425.1	6p21.3	2013-01-10	2004-03-22	2005-06-09	ENSG00000204371	ENSG00000204371	2.1.1.43	"Chromatin-modifying enzymes / K-methyltransferases", "Ankyrin repeat domain containing"	14129	protein-coding gene	gene with protein product		604599	"chromosome 6 open reading frame 30", "HLA-B associated transcript 8"	C6orf30, BAT8		8457211, 11316813	Standard	XM_005274833		Approved	G9A, Em:AF134726.3, NG36/G9a, KMT1C	uc003nxz.1	Q96KQ7	OTTHUMG00000031180	ENST00000375537.4:c.2681G>A	6.37:g.31852259C>T	ENSP00000364687:p.Arg894His					EHMT2_ENST00000480912.1_5'UTR|EHMT2_ENST00000375530.4_Missense_Mutation_p.R860H|EHMT2_ENST00000375528.4_Missense_Mutation_p.R917H|EHMT2_ENST00000375537.4_Missense_Mutation_p.R894H	p.R951H			Q96KQ7	EHMT2_HUMAN			20	2851	-			894					B0UZY2|Q14349|Q5JP83|Q5JQ92|Q5JQA1|Q5JQG3|Q6PK06|Q96MH5|Q96QD0|Q9UQL8|Q9Y331	Missense_Mutation	SNP	ENST00000375537.4	37	c.2852G>A	CCDS4725.1	.	.	.	.	.	.	.	.	.	.	C	12.12	1.841555	0.32513	3.31E-4	0.0	ENSG00000204371	ENST00000395728;ENST00000375528;ENST00000375530;ENST00000375537;ENST00000442298	T;T;T;T	0.70631	-0.5;-0.46;-0.41;-0.5	5.14	5.14	0.70334	Ankyrin repeat-containing domain (1);	0.194881	0.45867	D	0.000333	T	0.32645	0.0836	N	0.12182	0.205	0.35585	D	0.806619	B;B;B;B	0.29646	0.253;0.224;0.055;0.055	B;B;B;B	0.22753	0.034;0.041;0.011;0.004	T	0.37911	-0.9685	10	0.46703	T	0.11	.	7.9586	0.30057	0.0:0.825:0.0:0.175	.	917;860;894;715	A2ABF8;Q96KQ7-2;Q96KQ7;Q59FM7	.;.;EHMT2_HUMAN;.	H	951;917;860;894;715	ENSP00000379078:R951H;ENSP00000364678:R917H;ENSP00000364680:R860H;ENSP00000364687:R894H	ENSP00000364678:R917H	R	-	2	0	EHMT2	31960238	1.000000	0.71417	1.000000	0.80357	0.099000	0.18886	2.721000	0.47260	2.396000	0.81511	0.555000	0.69702	CGC		0.607	EHMT2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000076355.5	NM_006709		12	82	0	0	0	1	0	12	82					T	31852259	C	T	31852259	3	4	382	1	0	0	0	0	1	0	0	0	4984	768	27	1	983	1	EHMT2	6	31852259	Missense_Mutation	SNP	C	TCGA-V1-A9O7-01A-21D-A41K-08	18240194	31852259	139262808	9	18792											
TAAR2	9287	broad.mit.edu	37	chr6	132939003	132939003	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctataataaatcttgcaaaaTgtaagcccaaaataccagca	19	9	4	9	0	1	0	0	0	1	0	1	0	1	0	2	0	4	3	2	0	10	6			TCGA-V1-A9O7-01A-21D-A41K-08	TCGA-V1-A9O7-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d67abdf6-e826-413f-b727-c871fac872c0	e26ab21d-ac72-4d81-b54d-2b6673106efc	g.chr6:132939003T>C	ENST00000367931.1	-	2	341	c.342A>G	c.(340-342)acA>acG	p.T114T	TAAR2_ENST00000275191.2_Silent_p.T69T|TAAR2_ENST00000537809.1_Silent_p.T69T			Q9P1P5	TAAR2_HUMAN	trace amine associated receptor 2	114					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|trace-amine receptor activity (GO:0001594)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(1)	23	Breast(56;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00608)|GBM - Glioblastoma multiforme(226;0.0151)		TCTTGCAAAATGTAAGCCCAA	0.393																																						ENST00000275191.2																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(1)	23						c.(205-207)acA>acG		trace amine associated receptor 2							90	85	86					6																	132939003		2203	4300	6503	SO:0001819	synonymous_variant	9287					plasma membrane	G-protein coupled receptor activity	g.chr6:132939003T>C	AF112460	CCDS34541.1, CCDS5157.1	6q24	2012-08-08	2005-02-23	2005-02-24	ENSG00000146378	ENSG00000146378		"GPCR / Class A : Trace amine associated receptors"	4514	protein-coding gene	gene with protein product		604849	"G protein-coupled receptor 58"	GPR58		10684976, 15718104	Standard	NM_014626		Approved		uc003qdl.1	Q9P1P5	OTTHUMG00000015585	ENST00000367931.1:c.342A>G	6.37:g.132939003T>C						TAAR2_ENST00000537809.1_Silent_p.T69T|TAAR2_ENST00000367931.1_Silent_p.T114T	p.T69T	NM_014626.3	NP_055441.2	Q9P1P5	TAAR2_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.00608)|GBM - Glioblastoma multiforme(226;0.0151)	1	314	-	Breast(56;0.135)		114					Q5QD02|Q6NWS1|Q6NWS2|Q6NWS3	Silent	SNP	ENST00000367931.1	37	c.207A>G	CCDS34541.1																																																																																				0.393	TAAR2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000390735.1	NM_014626		13	64	0	0	0	1	0	13	64					C	132939003	T	C	132939003	2	2	382	1	0	0	0	0	0	0	0	1	15487	1451	51	4		4	TAAR2	6	132939003	Silent	SNP	T	TCGA-V1-A9O7-01A-21D-A41K-08	101086744	132939003	38176064	10	18793											
PEX3	8504	broad.mit.edu	37	chr6	143784112	143784112	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agcaactgaattccgagagcCtcacagctctgctaaaaaac	15	7	7	12	1	2	2	1	1	1	1	3	3	3	2	2	0	6	3	2	0	5	2			TCGA-V1-A9O7-01A-21D-A41K-08	TCGA-V1-A9O7-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d67abdf6-e826-413f-b727-c871fac872c0	e26ab21d-ac72-4d81-b54d-2b6673106efc	g.chr6:143784112C>G	ENST00000367591.4	+	3	328	c.265C>G	c.(265-267)Ctc>Gtc	p.L89V		NM_003630.2	NP_003621.1	P56589	PEX3_HUMAN	peroxisomal biogenesis factor 3	89					peroxisome membrane biogenesis (GO:0016557)|peroxisome organization (GO:0007031)|protein import into peroxisome membrane (GO:0045046)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|integral component of peroxisomal membrane (GO:0005779)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)|protein complex (GO:0043234)|protein-lipid complex (GO:0032994)	lipid binding (GO:0008289)|protein dimerization activity (GO:0046983)			endometrium(1)|large_intestine(9)|lung(4)|ovary(2)|skin(2)	18				OV - Ovarian serous cystadenocarcinoma(155;5.73e-06)|GBM - Glioblastoma multiforme(68;0.0117)		TTCCGAGAGCCTCACAGCTCT	0.358																																						ENST00000367591.4																			0				endometrium(1)|large_intestine(9)|lung(4)|ovary(2)|skin(2)	18						c.(265-267)Ctc>Gtc		peroxisomal biogenesis factor 3							90	88	88					6																	143784112		2203	4300	6503	SO:0001583	missense	8504				protein import into peroxisome membrane|transmembrane transport	integral to peroxisomal membrane	protein binding	g.chr6:143784112C>G	AJ001625	CCDS5199.1	6q24.2	2008-05-15			ENSG00000034693	ENSG00000034693			8858	protein-coding gene	gene with protein product		603164				9657383	Standard	NM_003630		Approved		uc003qjl.3	P56589	OTTHUMG00000015730	ENST00000367591.4:c.265C>G	6.37:g.143784112C>G	ENSP00000356563:p.Leu89Val						p.L89V	NM_003630.2	NP_003621.1	P56589	PEX3_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.73e-06)|GBM - Glioblastoma multiforme(68;0.0117)	3	328	+			89					Q6FGP5	Missense_Mutation	SNP	ENST00000367591.4	37	c.265C>G	CCDS5199.1	.	.	.	.	.	.	.	.	.	.	C	16.77	3.215712	0.58452	.	.	ENSG00000034693	ENST00000344281;ENST00000367592;ENST00000367591	T;T	0.48836	0.8;0.88	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	T	0.48554	0.1506	L	0.52823	1.66	0.80722	D	1	B;D	0.63046	0.303;0.992	B;D	0.63192	0.423;0.912	T	0.35176	-0.9799	10	0.22109	T	0.4	-9.6061	13.0137	0.58745	0.0:0.9266:0.0:0.0734	.	89;89	B4DV31;P56589	.;PEX3_HUMAN	V	45;45;89	ENSP00000356564:L45V;ENSP00000356563:L89V	ENSP00000344195:L45V	L	+	1	0	PEX3	143825805	1.000000	0.71417	0.998000	0.56505	0.965000	0.64279	5.782000	0.68973	2.656000	0.90262	0.655000	0.94253	CTC		0.358	PEX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042525.1			4	39	0	0	0	1	0	4	39					G	143784112	C	G	143784112	3	3	382	1	0	0	0	0	1	0	0	0	11747	681	24	5	275	5	PEX3	6	143784112	Missense_Mutation	SNP	C	TCGA-V1-A9O7-01A-21D-A41K-08	10845109	143784112	27330955	11	18794											
LPA	4018	broad.mit.edu	37	chr6	161016418	161016418	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aagcctctgtgcttggatctGggaccaccgtgagagttgca	8	10	13	10	1	2	1	0	1	2	1	2	4	2	3	3	2	3	3	3	2	1	2			TCGA-V1-A9O7-01A-21D-A41K-08	TCGA-V1-A9O7-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d67abdf6-e826-413f-b727-c871fac872c0	e26ab21d-ac72-4d81-b54d-2b6673106efc	g.chr6:161016418G>T	ENST00000316300.5	-	21	3481	c.3437C>A	c.(3436-3438)cCa>cAa	p.P1146Q	LPA_ENST00000447678.1_Missense_Mutation_p.P1146Q			P08519	APOA_HUMAN	lipoprotein, Lp(a)	3654	Kringle 10. {ECO:0000255|PROSITE- ProRule:PRU00121}.				blood circulation (GO:0008015)|lipid metabolic process (GO:0006629)|lipid transport (GO:0006869)|lipoprotein metabolic process (GO:0042157)|negative regulation of endopeptidase activity (GO:0010951)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|plasma lipoprotein particle (GO:0034358)	apolipoprotein binding (GO:0034185)|endopeptidase inhibitor activity (GO:0004866)|fibronectin binding (GO:0001968)|heparin binding (GO:0008201)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	GCTTGGATCTGGGACCACCGT	0.498																																						ENST00000447678.1																			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107						c.(3436-3438)cCa>cAa		lipoprotein, Lp(a)	Aminocaproic Acid(DB00513)						162	160	160					6																	161016418		2036	4219	6255	SO:0001583	missense	4018				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity	g.chr6:161016418G>T	X06290	CCDS43523.1	6q25-q26	2012-10-02			ENSG00000198670	ENSG00000198670			6667	protein-coding gene	gene with protein product		152200		LP		3670400	Standard	NM_005577		Approved		uc003qtl.3	P08519	OTTHUMG00000015956	ENST00000316300.5:c.3437C>A	6.37:g.161016418G>T	ENSP00000321334:p.Pro1146Gln					LPA_ENST00000316300.5_Missense_Mutation_p.P1146Q	p.P1146Q	NM_005577.2	NP_005568.2	P08519	APOA_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	22	3557	-		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)	3654			Kringle 10.		Q5VTD7|Q9UD88	Missense_Mutation	SNP	ENST00000316300.5	37	c.3437C>A	CCDS43523.1	.	.	.	.	.	.	.	.	.	.	g	8.911	0.958655	0.18507	.	.	ENSG00000198670	ENST00000316300;ENST00000447678	D;D	0.87412	-2.25;-2.25	2.14	-0.414	0.12359	Kringle-like fold (1);	.	.	.	.	T	0.78349	0.4269	L	0.33710	1.025	0.09310	N	1	D	0.67145	0.996	D	0.72982	0.979	T	0.66344	-0.5947	9	0.36615	T	0.2	.	2.4078	0.04417	0.0:0.2038:0.3209:0.4753	.	3654	P08519	APOA_HUMAN	Q	1146	ENSP00000321334:P1146Q;ENSP00000395608:P1146Q	ENSP00000321334:P1146Q	P	-	2	0	LPA	160936408	0.001000	0.12720	0.010000	0.14722	0.484000	0.33280	0.144000	0.16135	0.069000	0.16605	0.205000	0.17691	CCA		0.498	LPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042957.1	NM_005577		21	111	1	0	0.00278032	1	0.0028938	21	111					T	161016418	G	T	161016418	3	4	382	1	0	0	0	0	1	0	0	0	8903	1348	47	5	2761	5	LPA	6	161016418	Missense_Mutation	SNP	G	TCGA-V1-A9O7-01A-21D-A41K-08	17232306	161016418	10098649	12	18795											
MUC17	140453	broad.mit.edu	37	chr7	100684766	100684766	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cgccagtggtcagttctgagGctagcaccctttccacaact	8	10	9	14	1	2	1	1	1	1	0	3	1	3	1	3	2	2	3	3	2	2	3			TCGA-V1-A9O7-01A-21D-A41K-08	TCGA-V1-A9O7-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d67abdf6-e826-413f-b727-c871fac872c0	e26ab21d-ac72-4d81-b54d-2b6673106efc	g.chr7:100684766G>A	ENST00000306151.4	+	3	10133	c.10069G>A	c.(10069-10071)Gct>Act	p.A3357T		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	3357	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CAGTTCTGAGGCTAGCACCCT	0.483																																						ENST00000306151.4																			0				NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343						c.(10069-10071)Gct>Act		mucin 17, cell surface associated							301	312	308					7																	100684766		2203	4300	6503	SO:0001583	missense	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100684766G>A	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"Mucins"	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.10069G>A	7.37:g.100684766G>A	ENSP00000302716:p.Ala3357Thr						p.A3357T	NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN			3	10133	+	Lung NSC(181;0.136)|all_lung(186;0.182)		3357			59 X approximate tandem repeats.|Ser-rich.		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	c.10069G>A	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	g	8.931	0.963562	0.18583	.	.	ENSG00000169876	ENST00000306151	T	0.01902	4.57	1.44	-0.746	0.11095	.	.	.	.	.	T	0.01730	0.0055	N	0.14661	0.345	0.09310	N	1	D	0.54207	0.965	P	0.50314	0.637	T	0.19063	-1.0317	9	0.02654	T	1	.	5.528	0.16968	0.3829:0.0:0.6171:0.0	.	3357	Q685J3	MUC17_HUMAN	T	3357	ENSP00000302716:A3357T	ENSP00000302716:A3357T	A	+	1	0	MUC17	100471486	0.000000	0.05858	0.000000	0.03702	0.014000	0.08584	-0.678000	0.05209	-0.051000	0.13334	0.196000	0.17591	GCT		0.483	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		6	387	0	0	0	1	0	6	387					A	100684766	G	A	100684766	3	1	382	1	0	0	0	0	1	0	0	0	9974	1203	42	3	10079	3	MUC17	7	100684766	Missense_Mutation	SNP	G	TCGA-V1-A9O7-01A-21D-A41K-08		100684766	58453897	13	18796											
PMPCB	9512	broad.mit.edu	37	chr7	102944392	102944392	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gagatgcaggaagttgaaacCaatttacaagaagttgtttt	15	12	10	4	0	0	3	0	1	0	2	0	5	0	4	1	1	3	4	1	1	6	6			TCGA-V1-A9O7-01A-21D-A41K-08	TCGA-V1-A9O7-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d67abdf6-e826-413f-b727-c871fac872c0	e26ab21d-ac72-4d81-b54d-2b6673106efc	g.chr7:102944392C>T	ENST00000249269.4	+	5	599	c.561C>T	c.(559-561)acC>acT	p.T187T	PMPCB_ENST00000420236.2_Silent_p.T82T|PMPCB_ENST00000428154.1_Silent_p.T187T	NM_004279.2	NP_004270.2	O75439	MPPB_HUMAN	peptidase (mitochondrial processing) beta	187					cellular protein metabolic process (GO:0044267)|protein targeting to mitochondrion (GO:0006626)	mitochondrial inner membrane (GO:0005743)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(9)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						AAGTTGAAACCAATTTACAAG	0.378																																						ENST00000249269.4																			0				central_nervous_system(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(9)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(559-561)acC>acT		peptidase (mitochondrial processing) beta							113	109	110					7																	102944392		2203	4300	6503	SO:0001819	synonymous_variant	9512				proteolysis	mitochondrial matrix	metalloendopeptidase activity|zinc ion binding	g.chr7:102944392C>T	AF054182	CCDS5730.1	7q22.1	2007-07-30			ENSG00000105819	ENSG00000105819			9119	protein-coding gene	gene with protein product		603131				9653160	Standard	XM_005250717		Approved	MPPB, MPPP52	uc003vbl.3	O75439	OTTHUMG00000157205	ENST00000249269.4:c.561C>T	7.37:g.102944392C>T						PMPCB_ENST00000420236.2_Silent_p.T82T|PMPCB_ENST00000428154.1_Silent_p.T187T	p.T187T	NM_004279.2	NP_004270.2	O75439	MPPB_HUMAN			5	599	+			187					O60416|Q96FV4	Silent	SNP	ENST00000249269.4	37	c.561C>T	CCDS5730.1																																																																																				0.378	PMPCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347913.1	NM_004279		6	43	0	0	0	1	0	6	43					T	102944392	C	T	102944392	2	4	382	1	0	0	0	0	0	0	0	1	12141	581	21	3		3	PMPCB	7	102944392	Silent	SNP	C	TCGA-V1-A9O7-01A-21D-A41K-08	2259626	102944392	56194271	14	18797											
XRCC2	7516	broad.mit.edu	37	chr7	152373125	152373125	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tcccaacccggcggctctcaCctcggtcccagactcagccc	6	6	8	21	3	2	1	2	0	1	1	6	1	4	1	5	3	2	1	5	3	1	0	rs560785131		TCGA-V1-A9O7-01A-21D-A41K-08	TCGA-V1-A9O7-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d67abdf6-e826-413f-b727-c871fac872c0	e26ab21d-ac72-4d81-b54d-2b6673106efc	g.chr7:152373125C>T	ENST00000359321.1	-	1	125		c.e1+1			NM_005431.1	NP_005422.1	O43543	XRCC2_HUMAN	X-ray repair complementing defective repair in Chinese hamster cells 2						centrosome organization (GO:0051297)|DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|in utero embryonic development (GO:0001701)|meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of neurogenesis (GO:0050769)|response to gamma radiation (GO:0010332)|response to X-ray (GO:0010165)|strand invasion (GO:0042148)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|Rad51B-Rad51C-Rad51D-XRCC2 complex (GO:0033063)|replication fork (GO:0005657)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)			NS(1)|breast(1)|large_intestine(5)|liver(1)|lung(1)|prostate(2)	11		all_hematologic(28;0.0592)|Prostate(32;0.081)	OV - Ovarian serous cystadenocarcinoma(82;0.0423)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0429)		GCGGCTCTCACCTCGGTCCCA	0.672								Homologous recombination					C|||	1	0.000199681	0	0	5008	,	,		13473	0		0.001	False		,,,				2504	0					ENST00000359321.1																			0				NS(1)|breast(1)|large_intestine(5)|liver(1)|lung(1)|prostate(2)	11						c.e1+1	Homologous recombination	X-ray repair complementing defective repair in Chinese hamster cells 2							60	57	58					7																	152373125		2203	4300	6503	SO:0001630	splice_region_variant	7516				meiosis	nucleus	ATP binding|DNA binding|DNA-dependent ATPase activity	g.chr7:152373125C>T	Y08837	CCDS5933.1	7q36	2006-05-04			ENSG00000196584	ENSG00000196584			12829	protein-coding gene	gene with protein product	"RAD51-like"	600375				7607692, 10422536	Standard	NM_005431		Approved		uc003wld.3	O43543	OTTHUMG00000151470	ENST00000359321.1:c.39+1G>A	7.37:g.152373125C>T								NM_005431.1	NP_005422.1	O43543	XRCC2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0423)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0429)	1	125	-		all_hematologic(28;0.0592)|Prostate(32;0.081)						B2R925	Splice_Site	SNP	ENST00000359321.1	37		CCDS5933.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.941776	0.73557	.	.	ENSG00000196584	ENST00000359321	.	.	.	3.84	3.84	0.44239	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.9483	0.58386	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	XRCC2	152004058	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	2.721000	0.47260	2.127000	0.65507	0.555000	0.69702	.		0.672	XRCC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322783.1	NM_005431	Intron	6	35	0	0	0	1	0	6	35					T	152373125	C	T	152373125	5	4	382	1	0	0	0	0	0	0	1	0	17450	521	18	3	814	3	XRCC2	7	152373125	Splice_Site	SNP	C	TCGA-V1-A9O7-01A-21D-A41K-08	49428733	152373125	6765538	15	18798											
RP1	6101	broad.mit.edu	37	chr8	55542654	55542654	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agtcgatgagaataacaactTattaaataacagattccagg	18	10	7	6	1	0	2	0	1	0	2	2	4	1	2	1	1	3	0	1	1	7	5			TCGA-V1-A9O7-01A-21D-A41K-08	TCGA-V1-A9O7-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d67abdf6-e826-413f-b727-c871fac872c0	e26ab21d-ac72-4d81-b54d-2b6673106efc	g.chr8:55542654T>C	ENST00000220676.1	+	4	6360	c.6212T>C	c.(6211-6213)tTa>tCa	p.L2071S		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	2071					axoneme assembly (GO:0035082)|cellular response to light stimulus (GO:0071482)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|photoreceptor cell outer segment organization (GO:0035845)|phototransduction, visible light (GO:0007603)|retinal cone cell development (GO:0046549)|retinal rod cell development (GO:0046548)|visual perception (GO:0007601)	axoneme (GO:0005930)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)	microtubule binding (GO:0008017)			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			AATAACAACTTATTAAATAAC	0.363																																					Colon(91;1014 1389 7634 14542 40420)	ENST00000220676.1																			0				NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169						c.(6211-6213)tTa>tCa		retinitis pigmentosa 1 (autosomal dominant)							46	47	47					8																	55542654		2203	4300	6503	SO:0001583	missense	6101				axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding	g.chr8:55542654T>C	AF146592	CCDS6160.1	8q12.1	2013-01-08				ENSG00000104237			10263	protein-coding gene	gene with protein product		603937				1783394	Standard	NM_006269		Approved	DCDC4A	uc003xsd.1	P56715		ENST00000220676.1:c.6212T>C	8.37:g.55542654T>C	ENSP00000220676:p.Leu2071Ser						p.L2071S	NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)		4	6360	+		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	2071						Missense_Mutation	SNP	ENST00000220676.1	37	c.6212T>C	CCDS6160.1	.	.	.	.	.	.	.	.	.	.	T	14.13	2.443830	0.43429	.	.	ENSG00000104237	ENST00000220676	T	0.35789	1.29	5.76	5.76	0.90799	.	0.699696	0.12421	N	0.470382	T	0.47525	0.1450	L	0.50333	1.59	0.22142	N	0.999332	D	0.57899	0.981	P	0.55161	0.77	T	0.43065	-0.9414	10	0.87932	D	0	.	10.6571	0.45682	0.0:0.0744:0.0:0.9256	.	2071	P56715	RP1_HUMAN	S	2071	ENSP00000220676:L2071S	ENSP00000220676:L2071S	L	+	2	0	RP1	55705207	0.992000	0.36948	0.852000	0.33557	0.458000	0.32498	3.196000	0.51020	2.201000	0.70794	0.533000	0.62120	TTA		0.363	RP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378532.2	NM_006269		4	38	0	0	0	1	0	4	38					C	55542654	T	C	55542654	3	2	382	1	0	0	0	0	1	0	0	0	13532	1764	61	4	6222	4	RP1	8	55542654	Missense_Mutation	SNP	T	TCGA-V1-A9O7-01A-21D-A41K-08		55542654	90821368	16	18799											
LYN	4067	broad.mit.edu	37	chr8	56866508	56866508	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtccatcaagttggtgaaaaGgcttggcgctgggcagtttg	8	11	15	7	1	1	1	1	1	0	0	2	1	2	1	1	4	0	5	1	4	3	3			TCGA-V1-A9O7-01A-21D-A41K-08	TCGA-V1-A9O7-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d67abdf6-e826-413f-b727-c871fac872c0	e26ab21d-ac72-4d81-b54d-2b6673106efc	g.chr8:56866508G>A	ENST00000519728.1	+	8	1051	c.755G>A	c.(754-756)aGg>aAg	p.R252K	LYN_ENST00000520220.2_Missense_Mutation_p.R231K	NM_002350.3	NP_002341.1	P07948	LYN_HUMAN	LYN proto-oncogene, Src family tyrosine kinase	252	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				B cell homeostasis (GO:0001782)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to extracellular stimulus (GO:0031668)|cellular response to heat (GO:0034605)|cellular response to retinoic acid (GO:0071300)|cytokine secretion (GO:0050663)|dendritic cell differentiation (GO:0097028)|erythrocyte differentiation (GO:0030218)|Fc receptor mediated inhibitory signaling pathway (GO:0002774)|Fc receptor mediated stimulatory signaling pathway (GO:0002431)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|histamine secretion by mast cell (GO:0002553)|immune response-regulating cell surface receptor signaling pathway (GO:0002768)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|leukocyte migration (GO:0050900)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of cell proliferation (GO:0008285)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of immune response (GO:0050777)|negative regulation of intracellular signal transduction (GO:1902532)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of mast cell proliferation (GO:0070667)|negative regulation of myeloid leukocyte differentiation (GO:0002762)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of toll-like receptor 2 signaling pathway (GO:0034136)|negative regulation of toll-like receptor 4 signaling pathway (GO:0034144)|neuron projection development (GO:0031175)|oligodendrocyte development (GO:0014003)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of B cell receptor signaling pathway (GO:0050861)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cellular component movement (GO:0051272)|positive regulation of dendritic cell apoptotic process (GO:2000670)|positive regulation of Fc receptor mediated stimulatory signaling pathway (GO:0060369)|positive regulation of glial cell proliferation (GO:0060252)|positive regulation of mast cell proliferation (GO:0070668)|positive regulation of neuron projection development (GO:0010976)|positive regulation of oligodendrocyte progenitor proliferation (GO:0070447)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of stress-activated protein kinase signaling cascade (GO:0070304)|positive regulation of tyrosine phosphorylation of STAT protein (GO:0042531)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of B cell apoptotic process (GO:0002902)|regulation of B cell receptor signaling pathway (GO:0050855)|regulation of cell adhesion mediated by integrin (GO:0033628)|regulation of cytokine production (GO:0001817)|regulation of cytokine secretion (GO:0050707)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of erythrocyte differentiation (GO:0045646)|regulation of inflammatory response (GO:0050727)|regulation of mast cell activation (GO:0033003)|regulation of mast cell degranulation (GO:0043304)|regulation of monocyte chemotaxis (GO:0090025)|regulation of platelet aggregation (GO:0090330)|regulation of protein phosphorylation (GO:0001932)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|response to amino acid (GO:0043200)|response to axon injury (GO:0048678)|response to carbohydrate (GO:0009743)|response to drug (GO:0042493)|response to hormone (GO:0009725)|response to insulin (GO:0032868)|response to organic cyclic compound (GO:0014070)|response to sterol depletion (GO:0006991)|response to toxic substance (GO:0009636)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|T cell costimulation (GO:0031295)|tolerance induction to self antigen (GO:0002513)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integrin alpha2-beta1 complex (GO:0034666)|mast cell granule (GO:0042629)|membrane raft (GO:0045121)|mitochondrial crista (GO:0030061)|mitochondrial intermembrane space (GO:0005758)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|glycosphingolipid binding (GO:0043208)|ion channel binding (GO:0044325)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	22		all_lung(136;0.0555)|Lung NSC(129;0.0726)|all_epithelial(80;0.0772)	Epithelial(17;0.000834)|all cancers(17;0.00598)		Bosutinib(DB06616)|Ponatinib(DB08901)	TTGGTGAAAAGGCTTGGCGCT	0.527																																						ENST00000520220.2																			0				breast(4)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	22						c.(691-693)aGg>aAg		v-yes-1 Yamaguchi sarcoma viral related oncogene homolog							109	107	108					8																	56866508		2203	4300	6503	SO:0001583	missense	4067				erythrocyte differentiation|interspecies interaction between organisms|leukocyte migration|platelet activation|positive regulation of cellular component movement|positive regulation of stress-activated protein kinase signaling cascade|positive regulation of tyrosine phosphorylation of STAT protein|response to DNA damage stimulus|T cell costimulation	cytosol|Golgi apparatus|membrane raft|nucleus|perinuclear region of cytoplasm	ATP binding|ion channel binding|non-membrane spanning protein tyrosine kinase activity|receptor signaling protein tyrosine kinase activity	g.chr8:56866508G>A	M16038	CCDS6162.1, CCDS47859.1	8q13	2014-06-25	2014-06-25		ENSG00000254087	ENSG00000254087		"SH2 domain containing"	6735	protein-coding gene	gene with protein product		165120	"v-yes-1 Yamaguchi sarcoma viral related oncogene homolog"			3561390	Standard	NM_002350		Approved	JTK8	uc003xsk.4	P07948	OTTHUMG00000044345	ENST00000519728.1:c.755G>A	8.37:g.56866508G>A	ENSP00000428924:p.Arg252Lys					LYN_ENST00000519728.1_Missense_Mutation_p.R252K	p.R231K	NM_001111097.2	NP_001104567.1	P07948	LYN_HUMAN	Epithelial(17;0.000834)|all cancers(17;0.00598)		8	966	+		all_lung(136;0.0555)|Lung NSC(129;0.0726)|all_epithelial(80;0.0772)	252					A0AVQ5	Missense_Mutation	SNP	ENST00000519728.1	37	c.692G>A	CCDS6162.1	.	.	.	.	.	.	.	.	.	.	G	1.487	-0.555773	0.03967	.	.	ENSG00000254087	ENST00000519728;ENST00000520220	T;T	0.24151	1.87;1.87	5.08	-0.566	0.11767	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);SH2 motif (1);Protein kinase, catalytic domain (1);	0.354217	0.38217	N	0.001775	T	0.07863	0.0197	N	0.03967	-0.31	0.22601	N	0.998943	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.0	T	0.40213	-0.9575	10	0.02654	T	1	.	9.5292	0.39182	0.7897:0.0:0.2103:0.0	.	322;252	Q6NUK7;P07948	.;LYN_HUMAN	K	252;231	ENSP00000428924:R252K;ENSP00000428424:R231K	ENSP00000428924:R252K	R	+	2	0	LYN	57029062	1.000000	0.71417	0.527000	0.27925	0.324000	0.28378	1.346000	0.33964	0.061000	0.16311	0.650000	0.86243	AGG		0.527	LYN-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378155.1	NM_002350		7	69	0	0	0	1	0	7	69					A	56866508	G	A	56866508	3	1	382	1	0	0	0	0	1	0	0	0	9107	1000	35	3	781	3	LYN	8	56866508	Missense_Mutation	SNP	G	TCGA-V1-A9O7-01A-21D-A41K-08	1323854	56866508	89497514	17	18800											
CHD7	55636	broad.mit.edu	37	chr8	61761625	61761625	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ttcagtgaagccgatgtgtgGatccctgaacctttccatgc	8	12	10	11	1	1	2	1	2	0	0	3	4	3	3	4	1	3	0	4	1	2	2			TCGA-V1-A9O7-01A-21D-A41K-08	TCGA-V1-A9O7-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d67abdf6-e826-413f-b727-c871fac872c0	e26ab21d-ac72-4d81-b54d-2b6673106efc	g.chr8:61761625G>T	ENST00000423902.2	+	25	5795	c.5316G>T	c.(5314-5316)tgG>tgT	p.W1772C	CHD7_ENST00000524602.1_Intron	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	1772					adult heart development (GO:0007512)|adult walking behavior (GO:0007628)|artery morphogenesis (GO:0048844)|blood circulation (GO:0008015)|central nervous system development (GO:0007417)|chromatin modification (GO:0016568)|cognition (GO:0050890)|cranial nerve development (GO:0021545)|embryonic hindlimb morphogenesis (GO:0035116)|epithelium development (GO:0060429)|face development (GO:0060324)|female genitalia development (GO:0030540)|genitalia development (GO:0048806)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|inner ear morphogenesis (GO:0042472)|limb development (GO:0060173)|nose development (GO:0043584)|olfactory behavior (GO:0042048)|olfactory bulb development (GO:0021772)|olfactory nerve development (GO:0021553)|palate development (GO:0060021)|positive regulation of multicellular organism growth (GO:0040018)|regulation of growth hormone secretion (GO:0060123)|regulation of neurogenesis (GO:0050767)|regulation of transcription, DNA-templated (GO:0006355)|retina development in camera-type eye (GO:0060041)|rRNA processing (GO:0006364)|semicircular canal morphogenesis (GO:0048752)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|T cell differentiation (GO:0030217)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			CCGATGTGTGGATCCCTGAAC	0.388																																						ENST00000423902.2																			0				NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123						c.(5314-5316)tgG>tgT		chromodomain helicase DNA binding protein 7							198	188	191					8																	61761625		1872	4110	5982	SO:0001583	missense	55636				central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent	nucleus	ATP binding|chromatin binding|DNA binding|helicase activity	g.chr8:61761625G>T	AB037837	CCDS47865.1	8q12.2	2014-09-17				ENSG00000171316			20626	protein-coding gene	gene with protein product		608892	"CHARGE association"	CRG		15300250, 18834967	Standard	NM_017780		Approved	KIAA1416, FLJ20357, FLJ20361	uc003xue.3	Q9P2D1		ENST00000423902.2:c.5316G>T	8.37:g.61761625G>T	ENSP00000392028:p.Trp1772Cys					CHD7_ENST00000524602.1_Intron	p.W1772C	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.143)		25	5795	+		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	1772					D0VBA5|E9PNZ2|Q05DI5|Q2TAN4|Q66K35|Q7Z6C0|Q7Z7Q2|Q9NXA0|Q9NXA3	Missense_Mutation	SNP	ENST00000423902.2	37	c.5316G>T	CCDS47865.1	.	.	.	.	.	.	.	.	.	.	G	12.35	1.910292	0.33721	.	.	ENSG00000171316	ENST00000307121;ENST00000423902	D	0.94330	-3.4	5.87	5.87	0.94306	.	0.000000	0.64402	D	0.000001	D	0.93572	0.7948	M	0.72118	2.19	0.80722	D	1	B	0.23316	0.083	B	0.27076	0.076	D	0.90365	0.4376	10	0.62326	D	0.03	-8.9556	20.2227	0.98327	0.0:0.0:1.0:0.0	.	1772	Q9P2D1	CHD7_HUMAN	C	1772	ENSP00000392028:W1772C	ENSP00000307304:W1772C	W	+	3	0	CHD7	61924179	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	9.869000	0.99810	2.778000	0.95560	0.650000	0.86243	TGG		0.388	CHD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383468.2	XM_098762		7	113	1	0	0.0477658	1	0.0487211	7	113					T	61761625	G	T	61761625	3	4	382	1	0	0	0	0	1	0	0	0	3330	1183	41	5	5410	5	CHD7	8	61761625	Missense_Mutation	SNP	G	TCGA-V1-A9O7-01A-21D-A41K-08	4895117	61761625	84602397	18	18801											
BAI1	575	broad.mit.edu	37	chr8	143558561	143558561	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agacccgcacgcgcttctgcGtgtcctcctcctacagcacg	6	8	9	18	5	1	1	0	0	1	1	4	1	4	1	4	0	3	3	4	0	1	2			TCGA-V1-A9O7-01A-21D-A41K-08	TCGA-V1-A9O7-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d67abdf6-e826-413f-b727-c871fac872c0	e26ab21d-ac72-4d81-b54d-2b6673106efc	g.chr8:143558561G>A	ENST00000517894.1	+	5	2038	c.1144G>A	c.(1144-1146)Gtg>Atg	p.V382M	BAI1_ENST00000323289.5_Missense_Mutation_p.V382M			O14514	BAI1_HUMAN	brain-specific angiogenesis inhibitor 1	382	TSP type-1 2. {ECO:0000255|PROSITE- ProRule:PRU00210}.				axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell proliferation (GO:0008285)|neuropeptide signaling pathway (GO:0007218)|peripheral nervous system development (GO:0007422)|signal transduction (GO:0007165)	cell-cell junction (GO:0005911)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(28)|ovary(4)|pancreas(1)|prostate(7)	57	all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					GCGCTTCTGCGTGTCCTCCTC	0.701																																						ENST00000517894.1																			0				NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(28)|ovary(4)|pancreas(1)|prostate(7)	57						c.(1144-1146)Gtg>Atg		brain-specific angiogenesis inhibitor 1							17	23	21					8																	143558561		2074	4204	6278	SO:0001583	missense	575				axonogenesis|cell adhesion|negative regulation of angiogenesis|negative regulation of cell proliferation|neuropeptide signaling pathway|peripheral nervous system development	cell-cell junction|integral to plasma membrane	G-protein coupled receptor activity|protein binding	g.chr8:143558561G>A	AB005297	CCDS64985.1	8q24.3	2014-08-08			ENSG00000181790	ENSG00000181790		"-", "GPCR / Class B : Orphans"	943	protein-coding gene	gene with protein product		602682				9533023	Standard	NM_001702		Approved		uc003ywm.3	O14514	OTTHUMG00000164732	ENST00000517894.1:c.1144G>A	8.37:g.143558561G>A	ENSP00000430945:p.Val382Met					BAI1_ENST00000323289.5_Missense_Mutation_p.V382M	p.V382M			O14514	BAI1_HUMAN			5	2038	+	all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)		382			TSP type-1 2.			Missense_Mutation	SNP	ENST00000517894.1	37	c.1144G>A		.	.	.	.	.	.	.	.	.	.	G	21.0	4.084419	0.76642	.	.	ENSG00000181790	ENST00000517894;ENST00000323289	T;T	0.54866	0.55;0.55	4.32	4.32	0.51571	.	0.273875	0.28700	U	0.014432	T	0.53174	0.1780	L	0.31526	0.94	0.40246	D	0.978016	D	0.60160	0.987	P	0.52758	0.708	T	0.59968	-0.7354	10	0.56958	D	0.05	.	16.1259	0.81395	0.0:0.0:1.0:0.0	.	382	E9PBK0	.	M	382	ENSP00000430945:V382M;ENSP00000313046:V382M	ENSP00000313046:V382M	V	+	1	0	BAI1	143555563	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.283000	0.65621	2.082000	0.62665	0.462000	0.41574	GTG		0.701	BAI1-001	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000379963.3	NM_001702		5	29	0	0	0	1	0	5	29					A	143558561	G	A	143558561	3	1	382	1	0	0	0	0	1	0	0	0	1298	1145	40	1	1158	1	BAI1	8	143558561	Missense_Mutation	SNP	G	TCGA-V1-A9O7-01A-21D-A41K-08	81796936	143558561	2805461	19	18802											
FNBP1	23048	broad.mit.edu	37	chr9	132687348	132687348	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggctgttatctgacacagtgCgcttcattggctgagtgtaa	8	13	12	8	1	2	2	1	2	1	0	2	2	2	2	0	2	1	5	0	2	2	4	rs191141789		TCGA-V1-A9O7-01A-21D-A41K-08	TCGA-V1-A9O7-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d67abdf6-e826-413f-b727-c871fac872c0	e26ab21d-ac72-4d81-b54d-2b6673106efc	g.chr9:132687348C>T	ENST00000446176.2	-	9	1064	c.878G>A	c.(877-879)cGc>cAc	p.R293H	FNBP1_ENST00000478129.1_5'UTR|FNBP1_ENST00000355681.3_Missense_Mutation_p.R293H|FNBP1_ENST00000420781.1_Missense_Mutation_p.R293H	NM_015033.2	NP_055848.1	Q96RU3	FNBP1_HUMAN	formin binding protein 1	293	Interaction with microtubules. {ECO:0000250}.|Required for self-association and induction of membrane tubulation.				endocytosis (GO:0006897)	coated pit (GO:0005905)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|lysosome (GO:0005764)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)|lipid binding (GO:0008289)						Ovarian(14;0.000536)		GBM - Glioblastoma multiforme(294;0.0378)		TGACACAGTGCGCTTCATTGG	0.418			T	MLL	AML								C|||	1	0.000199681	8e-04	0	5008	,	,		18208	0		0	False		,,,				2504	0					ENST00000420781.1				Dom	yes		9	9q23	23048	T	formin binding protein 1 (FBP17)			L	MLL		AML		0											c.(877-879)cGc>cAc		formin binding protein 1							147	137	140					9																	132687348		1881	4122	6003	SO:0001583	missense	23048				endocytosis	cell cortex|cytoplasmic membrane-bounded vesicle|cytoskeleton|lysosome|plasma membrane	identical protein binding|lipid binding	g.chr9:132687348C>T	AB011126	CCDS48040.1	9q34	2008-02-05			ENSG00000187239	ENSG00000187239			17069	protein-coding gene	gene with protein product		606191				9628581, 11438682	Standard	XM_005251815		Approved	FBP17, KIAA0554	uc004byw.1	Q96RU3	OTTHUMG00000020800	ENST00000446176.2:c.878G>A	9.37:g.132687348C>T	ENSP00000413625:p.Arg293His					FNBP1_ENST00000355681.3_Missense_Mutation_p.R293H|FNBP1_ENST00000478129.1_5'UTR|FNBP1_ENST00000446176.2_Missense_Mutation_p.R293H	p.R293H			Q96RU3	FNBP1_HUMAN		GBM - Glioblastoma multiforme(294;0.0378)	9	1096	-		Ovarian(14;0.000536)	293			Interaction with microtubules (By similarity).|Required for self-association and induction of membrane tubulation.		O60301|Q3MIN8|Q5TC87|Q5TC88|Q6P658|Q7LGG2|Q9H8H8|Q9NWD1	Missense_Mutation	SNP	ENST00000446176.2	37	c.878G>A	CCDS48040.1	1|1	4.578754578754579E-4|4.578754578754579E-4	1|1	0.0020325203252032522|0.0020325203252032522	0|0	0.0|0.0	0|0	0.0|0.0	0|0	0.0|0.0	C|C	27.2|27.2	4.806903|4.806903	0.90623|0.90623	.|.	.|.	ENSG00000187239|ENSG00000187239	ENST00000449089|ENST00000372416;ENST00000446176;ENST00000420781;ENST00000372415;ENST00000355681	.|T;T;T	.|0.50001	.|0.78;0.76;0.8	5.34|5.34	5.34|5.34	0.76211|0.76211	.|.	.|0.101754	.|0.64402	.|D	.|0.000004	T|T	0.70090|0.70090	0.3184|0.3184	M|M	0.76574|0.76574	2.34|2.34	0.80722|0.80722	D|D	1|1	.|D;D;D;D;D;D;D	.|0.89917	.|0.999;1.0;1.0;1.0;1.0;0.999;1.0	.|D;D;D;D;D;D;D	.|0.91635	.|0.917;0.999;0.919;0.982;0.999;0.949;0.987	T|T	0.72246|0.72246	-0.4349|-0.4349	5|10	.|0.62326	.|D	.|0.03	-25.4201|-25.4201	18.4048|18.4048	0.90532|0.90532	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|293;293;293;293;254;293;293	.|B7ZL12;B7ZL13;B7ZL14;Q96RU3-3;Q5QP69;Q96RU3-2;Q96RU3	.|.;.;.;.;.;.;FNBP1_HUMAN	T|H	255|293	.|ENSP00000413625:R293H;ENSP00000407548:R293H;ENSP00000347907:R293H	.|ENSP00000347907:R293H	A|R	-|-	1|2	0|0	FNBP1|FNBP1	131727169|131727169	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.964000|0.964000	0.63967|0.63967	7.336000|7.336000	0.79245|0.79245	2.655000|2.655000	0.90218|0.90218	0.462000|0.462000	0.41574|0.41574	GCA|CGC		0.418	FNBP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054630.2			4	58	0	0	0	1	0	4	58					T	132687348	C	T	132687348	3	4	382	1	0	0	0	0	1	0	0	0	5965	768	27	1	1011	1	FNBP1	9	132687348	Missense_Mutation	SNP	C	TCGA-V1-A9O7-01A-21D-A41K-08		132687348	8526083	20	18803											
GTF3C4	9329	broad.mit.edu	37	chr9	135553528	135553528	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agctggtctcccatgggttgCgatgctaatggcaggtgcct	6	11	14	10	1	1	0	0	0	1	0	2	1	1	0	2	4	4	4	2	4	1	2	rs372437145		TCGA-V1-A9O7-01A-21D-A41K-08	TCGA-V1-A9O7-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d67abdf6-e826-413f-b727-c871fac872c0	e26ab21d-ac72-4d81-b54d-2b6673106efc	g.chr9:135553528C>T	ENST00000372146.4	+	2	1086	c.522C>T	c.(520-522)tgC>tgT	p.C174C	GTF3C4_ENST00000483873.2_Intron	NM_012204.2	NP_036336.2	Q9UKN8	TF3C4_HUMAN	general transcription factor IIIC, polypeptide 4, 90kDa	174					5S class rRNA transcription from RNA polymerase III type 1 promoter (GO:0042791)|gene expression (GO:0010467)|histone acetylation (GO:0016573)|positive regulation of catalytic activity (GO:0043085)|transcription from RNA polymerase III promoter (GO:0006383)|transcription initiation from RNA polymerase III promoter (GO:0006384)|transcription, DNA-templated (GO:0006351)|tRNA transcription from RNA polymerase III promoter (GO:0042797)	nucleoplasm (GO:0005654)|transcription factor TFIIIC complex (GO:0000127)	DNA binding (GO:0003677)|enzyme activator activity (GO:0008047)|histone acetyltransferase activity (GO:0004402)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1)	20				OV - Ovarian serous cystadenocarcinoma(145;8.15e-07)|Epithelial(140;2.6e-05)		CCATGGGTTGCGATGCTAATG	0.532																																					Pancreas(142;417 1875 11086 31973 47667)	ENST00000372146.4																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1)	20						c.(520-522)tgC>tgT		general transcription factor IIIC, polypeptide 4, 90kDa		C		0,4406		0,0,2203	114	111	112		522	-2.7	1	9		112	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	GTF3C4	NM_012204.2		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		174/823	135553528	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	9329				transcription initiation from RNA polymerase III promoter	transcription factor TFIIIC complex	DNA binding|enzyme activator activity|histone acetyltransferase activity|protein binding	g.chr9:135553528C>T	AF142328	CCDS6953.1	9q34.3	2011-07-01	2002-08-29		ENSG00000125484	ENSG00000125484		"Chromatin-modifying enzymes / K-acetyltransferases", "General transcription factors"	4667	protein-coding gene	gene with protein product		604892	"general transcription factor IIIC, polypeptide 4 (90kD)"			10523658	Standard	NM_012204		Approved	TFIIIC90, KAT12	uc010mzv.3	Q9UKN8	OTTHUMG00000020842	ENST00000372146.4:c.522C>T	9.37:g.135553528C>T						GTF3C4_ENST00000483873.2_Intron	p.C174C	NM_012204.2	NP_036336.2	Q9UKN8	TF3C4_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;8.15e-07)|Epithelial(140;2.6e-05)	2	1086	+			174					Q5VZJ7	Silent	SNP	ENST00000372146.4	37	c.522C>T	CCDS6953.1																																																																																				0.532	GTF3C4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054792.1			7	67	0	0	0	1	0	7	67					T	135553528	C	T	135553528	2	4	382	1	0	0	0	0	0	0	0	1	6875	776	27	1		1	GTF3C4	9	135553528	Silent	SNP	C	TCGA-V1-A9O7-01A-21D-A41K-08	2866180	135553528	5659903	21	18804											
DIP2C	22982	broad.mit.edu	37	chr10	518459	518459	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aggaaggagtgacaggagccCggcgttcttgcggcaaagct	10	6	16	9	3	1	1	0	1	1	0	1	4	1	4	1	5	3	3	1	5	2	2	rs539130064		TCGA-V1-A9O7-01A-21D-A41K-08	TCGA-V1-A9O7-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d67abdf6-e826-413f-b727-c871fac872c0	e26ab21d-ac72-4d81-b54d-2b6673106efc	g.chr10:518459C>A	ENST00000280886.6	-	3	275	c.188G>T	c.(187-189)cGg>cTg	p.R63L	DIP2C_ENST00000381496.3_5'UTR	NM_014974.2	NP_055789.1	Q9Y2E4	DIP2C_HUMAN	DIP2 disco-interacting protein 2 homolog C (Drosophila)	63	DMAP-interaction.					nucleus (GO:0005634)	catalytic activity (GO:0003824)			breast(8)|endometrium(6)|kidney(10)|large_intestine(13)|lung(26)|ovary(3)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	81		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	OV - Ovarian serous cystadenocarcinoma(33;0.136)	Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		GACAGGAGCCCGGCGTTCTTG	0.572																																						ENST00000280886.6																			0				breast(8)|endometrium(6)|kidney(10)|large_intestine(13)|lung(26)|ovary(3)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	81						c.(187-189)cGg>cTg		DIP2 disco-interacting protein 2 homolog C (Drosophila)							154	144	147					10																	518459		2203	4300	6503	SO:0001583	missense	22982					nucleus	catalytic activity|transcription factor binding	g.chr10:518459C>A	BC035216	CCDS7054.1	10p15.3	2006-01-13	2006-01-13	2006-01-13	ENSG00000151240	ENSG00000151240			29150	protein-coding gene	gene with protein product		611380	"KIAA0934"	KIAA0934			Standard	NM_014974		Approved		uc001ifp.3	Q9Y2E4	OTTHUMG00000017532	ENST00000280886.6:c.188G>T	10.37:g.518459C>A	ENSP00000280886:p.Arg63Leu					DIP2C_ENST00000381496.3_5'UTR	p.R63L	NM_014974.2	NP_055789.1	Q9Y2E4	DIP2C_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;0.136)	Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106)	3	275	-		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	63					B4DPI5|Q5SS78	Missense_Mutation	SNP	ENST00000280886.6	37	c.188G>T	CCDS7054.1	.	.	.	.	.	.	.	.	.	.	C	12.78	2.040311	0.35989	.	.	ENSG00000151240	ENST00000280886;ENST00000423550	T;T	0.43294	0.95;0.95	5.53	4.63	0.57726	DMAP1-binding (1);	0.070349	0.56097	D	0.000034	T	0.41971	0.1182	M	0.63843	1.955	0.80722	D	1	P	0.37141	0.584	B	0.36030	0.216	T	0.40831	-0.9542	10	0.51188	T	0.08	-22.0716	13.5991	0.62010	0.0:0.924:0.0:0.076	.	63	Q9Y2E4	DIP2C_HUMAN	L	63;119	ENSP00000280886:R63L;ENSP00000408786:R119L	ENSP00000280886:R63L	R	-	2	0	DIP2C	508459	1.000000	0.71417	0.987000	0.45799	0.041000	0.13682	4.280000	0.58959	1.364000	0.46038	-0.409000	0.06214	CGG		0.572	DIP2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046389.1	NM_014974		12	59	1	0	1.61879e-10	1	1.83463e-10	12	59					A	518459	C	A	518459	3	1	382	1	0	0	0	0	1	0	0	0	4529	652	23	5	4622	5	DIP2C	10	518459	Missense_Mutation	SNP	C	TCGA-V1-A9O7-01A-21D-A41K-08		518459	135016288	22	18805											
ATM	472	broad.mit.edu	37	chr11	108159780	108159784	+	Frame_Shift_Del	DEL	TGTCA	TGTCA	-																															catttgcctatatcagcaatTgtcataaaaccaagttaaaa																										TCGA-V1-A9O7-01A-21D-A41K-08	TCGA-V1-A9O7-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d67abdf6-e826-413f-b727-c871fac872c0	e26ab21d-ac72-4d81-b54d-2b6673106efc	g.chr11:108159780_108159784delTGTCA	ENST00000452508.2	+	29	4375_4379	c.4186_4190delTGTCA	c.(4186-4191)tgtcatfs	p.CH1396fs	ATM_ENST00000278616.4_Frame_Shift_Del_p.CH1396fs			Q13315	ATM_HUMAN	ATM serine/threonine kinase	1396					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|DNA damage induced protein phosphorylation (GO:0006975)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|heart development (GO:0007507)|histone mRNA catabolic process (GO:0071044)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|lipoprotein catabolic process (GO:0042159)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of B cell proliferation (GO:0030889)|neuron apoptotic process (GO:0051402)|oocyte development (GO:0048599)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of neuron apoptotic process (GO:0043525)|pre-B cell allelic exclusion (GO:0002331)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reciprocal meiotic recombination (GO:0007131)|replicative senescence (GO:0090399)|response to hypoxia (GO:0001666)|response to ionizing radiation (GO:0010212)|signal transduction (GO:0007165)|signal transduction involved in mitotic G2 DNA damage checkpoint (GO:0072434)|somitogenesis (GO:0001756)|telomere maintenance (GO:0000723)	cytoplasmic vesicle (GO:0031410)|nucleoplasm (GO:0005654)|spindle (GO:0005819)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|histone serine kinase activity (GO:0035174)|protein complex binding (GO:0032403)|protein dimerization activity (GO:0046983)|protein N-terminus binding (GO:0047485)|protein serine/threonine kinase activity (GO:0004674)			NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	Caffeine(DB00201)	TATCAGCAATTGTCATAAAACCAAG	0.322			"D, Mis, N, F, S"		T-PLL	"leukemia, lymphoma, medulloblastoma, glioma"		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)																												ENST00000278616.4			yes	Rec	yes	Ataxia-telangiectasia	11	11q22.3	472	"D, Mis, N, F, S"	ataxia telangiectasia mutated			"L, O"		"leukemia, lymphoma, medulloblastoma, glioma"	T-PLL		0				NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448						c.(4186-4191)tfs	Genes defective in diseases associated with sensitivity to DNA damaging agents	ataxia telangiectasia mutated																																				SO:0001589	frameshift_variant	472	Ataxia Telangiectasia	Familial Cancer Database	AT, Louis-Bar syndrome	cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding	g.chr11:108159780_108159784delTGTCA	AB209133	CCDS31669.1	11q22-q23	2014-09-17	2014-06-17		ENSG00000149311	ENSG00000149311			795	protein-coding gene	gene with protein product	"TEL1, telomere maintenance 1, homolog (S. cerevisiae)"	607585	"ataxia telangiectasia mutated (includes complementation groups A, C and D)", "ataxia telangiectasia mutated"	ATA, ATDC, ATC, ATD			Standard	XM_005271561		Approved	TEL1, TELO1	uc001pkb.1	Q13315	OTTHUMG00000166480	ENST00000452508.2:c.4186_4190delTGTCA	11.37:g.108159780_108159784delTGTCA	ENSP00000388058:p.Cys1396fs	TSP Lung(14;0.12)				ATM_ENST00000452508.2_Frame_Shift_Del_p.CH1396fs	p.CH1396fs	NM_000051.3	NP_000042.3	Q13315	ATM_HUMAN		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	28	4571_4575	+		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)	1396					B2RNX5|O15429|Q12758|Q16551|Q93007|Q9NP02|Q9UCX7	Frame_Shift_Del	DEL	ENST00000452508.2	37	c.4186_4190delTGTCA	CCDS31669.1																																																																																				0.322	ATM-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389938.1	NM_000051		7	43						7	43	---	---	---	---	-	108159784	TGTCA	-	108159780	7	5	382	1	0	1	0	1	0	0	0	0	1109	1812	63	0	4292	0	ATM	11	108159780	Frame_Shift_Del	DEL	TGTCA	TCGA-V1-A9O7-01A-21D-A41K-08		108159780	26846736	23	18806											
RIMBP2	23504	broad.mit.edu	37	chr12	130926705	130926705	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcccaccagcagcgtgcactGcagctcatccgagctgcccc	7	5	10	19	2	1	0	1	0	0	0	2	1	2	0	5	0	7	5	5	0	0	0			TCGA-V1-A9O7-01A-21D-A41K-08	TCGA-V1-A9O7-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d67abdf6-e826-413f-b727-c871fac872c0	e26ab21d-ac72-4d81-b54d-2b6673106efc	g.chr12:130926705G>A	ENST00000261655.4	-	8	1304	c.1141C>T	c.(1141-1143)Cag>Tag	p.Q381*	RIMBP2_ENST00000535703.1_Nonsense_Mutation_p.Q289*|RIMBP2_ENST00000536002.1_Nonsense_Mutation_p.Q289*	NM_015347.4	NP_056162.4	O15034	RIMB2_HUMAN	RIMS binding protein 2	381	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				negative regulation of phosphatase activity (GO:0010923)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|synapse (GO:0045202)				NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		AGCGTGCACTGCAGCTCATCC	0.637																																						ENST00000261655.4																			0				NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96						c.(1141-1143)Cag>Tag		RIMS binding protein 2							117	105	109					12																	130926705		2203	4300	6503	SO:0001587	stop_gained	23504					cell junction|synapse		g.chr12:130926705G>A	AB002316	CCDS31925.1	12q24.33	2014-06-13				ENSG00000060709			30339	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 133"	611602				10748113	Standard	NM_015347		Approved	KIAA0318, RBP2, MGC15831, RIM-BP2, PPP1R133	uc001uil.2	O15034		ENST00000261655.4:c.1141C>T	12.37:g.130926705G>A	ENSP00000261655:p.Gln381*					RIMBP2_ENST00000536002.1_Nonsense_Mutation_p.Q289*|RIMBP2_ENST00000535703.1_Nonsense_Mutation_p.Q289*	p.Q381*	NM_015347.4	NP_056162.4	O15034	RIMB2_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)	8	1304	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)	381					Q96ID2	Nonsense_Mutation	SNP	ENST00000261655.4	37	c.1141C>T	CCDS31925.1	.	.	.	.	.	.	.	.	.	.	g	47	13.321262	0.99734	.	.	ENSG00000060709	ENST00000261655;ENST00000392375;ENST00000535703;ENST00000536002	.	.	.	4.23	4.23	0.50019	.	0.439306	0.25104	N	0.033118	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.37606	T	0.19	-9.8289	16.6129	0.84899	0.0:0.0:1.0:0.0	.	.	.	.	X	381;289;289;289	.	ENSP00000261655:Q381X	Q	-	1	0	RIMBP2	129492658	1.000000	0.71417	0.996000	0.52242	0.344000	0.29017	7.804000	0.85993	1.867000	0.54127	0.537000	0.68136	CAG		0.637	RIMBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399520.1	NM_015347		9	37	0	0	0	1	0	9	37					A	130926705	G	A	130926705	4	1	382	1	0	0	0	0	0	1	0	0	13363	1328	46	3	2065	3	RIMBP2	12	130926705	Nonsense_Mutation	SNP	G	TCGA-V1-A9O7-01A-21D-A41K-08		130926705	2925190	24	18807											
NRXN3	9369	broad.mit.edu	37	chr14	79746701	79746701	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cctggacgcttgggatctggTtcctgttctggggatgtatc	4	14	14	9	1	2	0	0	0	2	0	4	3	3	3	2	5	0	4	2	5	1	4			TCGA-V1-A9O7-01A-21D-A41K-08	TCGA-V1-A9O7-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d67abdf6-e826-413f-b727-c871fac872c0	e26ab21d-ac72-4d81-b54d-2b6673106efc	g.chr14:79746701T>A	ENST00000557594.1	+	1	1020	c.67T>A	c.(67-69)Ttc>Atc	p.F23I	NRXN3_ENST00000335750.5_Intron|NRXN3_ENST00000428277.2_Missense_Mutation_p.F23I|NRXN3_ENST00000281127.7_Missense_Mutation_p.F23I|NRXN3_ENST00000554719.1_Intron	NM_001272020.1	NP_001258949.1	Q9HDB5	NRX3B_HUMAN	neurexin 3	23					adult behavior (GO:0030534)|angiogenesis (GO:0001525)|learning (GO:0007612)|neuron cell-cell adhesion (GO:0007158)|neurotransmitter secretion (GO:0007269)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synapse maturation (GO:0090129)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|vocalization behavior (GO:0071625)	integral component of membrane (GO:0016021)	cell adhesion molecule binding (GO:0050839)|neuroligin family protein binding (GO:0097109)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		TGGGATCTGGTTCCTGTTCTG	0.592																																						ENST00000281127.7																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104						c.(67-69)Ttc>Atc		neurexin 3							173	164	167					14																	79746701		2203	4300	6503	SO:0001583	missense	9369				angiogenesis|cell adhesion	integral to membrane		g.chr14:79746701T>A	AB018286	CCDS9870.1, CCDS9871.1, CCDS45145.1, CCDS61515.1	14q31	2010-01-19				ENSG00000021645			8010	protein-coding gene	gene with protein product		600567	"chromosome 14 open reading frame 60"	C14orf60		11944992, 12379233	Standard	NM_004796		Approved	KIAA0743	uc001xun.4	Q9HDB5		ENST00000557594.1:c.67T>A	14.37:g.79746701T>A	ENSP00000451672:p.Phe23Ile					NRXN3_ENST00000557594.1_Missense_Mutation_p.F23I|NRXN3_ENST00000335750.5_Intron|NRXN3_ENST00000428277.2_Missense_Mutation_p.F23I|NRXN3_ENST00000554719.1_Intron	p.F23I	NM_138970.3	NP_620426.2	Q9HDB5	NRX3B_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)	1	946	+		Renal(4;0.00876)	23					A5PKW8|A8MPU5|B3KPM7|Q6NUR0|Q8IUD8	Missense_Mutation	SNP	ENST00000557594.1	37	c.67T>A		.	.	.	.	.	.	.	.	.	.	T	15.66	2.899138	0.52227	.	.	ENSG00000021645	ENST00000557594;ENST00000281127;ENST00000428277	T;T;T	0.34072	1.5;1.58;1.38	5.73	4.59	0.56863	.	.	.	.	.	T	0.17831	0.0428	N	0.08118	0	0.80722	D	1	B;B;B	0.18310	0.027;0.027;0.004	B;B;B	0.17722	0.019;0.019;0.008	T	0.09640	-1.0665	8	.	.	.	.	9.8457	0.41026	0.0:0.0769:0.0:0.9231	.	23;23;23	Q9HDB5-4;Q9HDB5-2;Q9HDB5	.;.;NRX3B_HUMAN	I	23	ENSP00000451672:F23I;ENSP00000281127:F23I;ENSP00000394426:F23I	.	F	+	1	0	NRXN3	78816454	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	3.349000	0.52217	2.187000	0.69744	0.460000	0.39030	TTC		0.592	NRXN3-004	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000413790.1	NM_001105250		7	149	0	0	0	1	0	7	149					A	79746701	T	A	79746701	3	1	382	1	0	0	0	0	1	0	0	0	10667	1725	60	5	2252	5	NRXN3	14	79746701	Missense_Mutation	SNP	T	TCGA-V1-A9O7-01A-21D-A41K-08		79746701	27602839	25	18808											
HERC2	8924	broad.mit.edu	37	chr15	28463646	28463646	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attccatacatgtcttgtccGtcgttccgctttccactaac	7	15	5	14	3	1	0	0	0	1	0	6	0	5	0	4	0	2	2	4	0	2	6			TCGA-V1-A9O7-01A-21D-A41K-08	TCGA-V1-A9O7-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d67abdf6-e826-413f-b727-c871fac872c0	e26ab21d-ac72-4d81-b54d-2b6673106efc	g.chr15:28463646G>A	ENST00000261609.7	-	38	6125	c.6017C>T	c.(6016-6018)aCg>aTg	p.T2006M		NM_004667.5	NP_004658.3			HECT and RLD domain containing E3 ubiquitin protein ligase 2											NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		TGTCTTGTCCGTCGTTCCGCT	0.552																																						ENST00000261609.7																			0				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204						c.(6016-6018)aCg>aTg		HECT and RLD domain containing E3 ubiquitin protein ligase 2							80	95	89					15																	28463646		1386	2353	3739	SO:0001583	missense	8924				DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr15:28463646G>A	AF071172	CCDS10021.1	15q13	2012-02-23	2012-02-23		ENSG00000128731	ENSG00000128731			4868	protein-coding gene	gene with protein product		605837	"hect domain and RLD 2"			9949213	Standard	NM_004667		Approved	jdf2, p528, D15F37S1	uc001zbj.4	O95714	OTTHUMG00000129251	ENST00000261609.7:c.6017C>T	15.37:g.28463646G>A	ENSP00000261609:p.Thr2006Met						p.T2006M	NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)	38	6125	-		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)	2006						Missense_Mutation	SNP	ENST00000261609.7	37	c.6017C>T	CCDS10021.1	.	.	.	.	.	.	.	.	.	.	G	8.063	0.768550	0.15983	.	.	ENSG00000128731	ENST00000261609	T	0.37915	1.17	4.4	2.52	0.30459	.	0.384744	0.28067	N	0.016729	T	0.12305	0.0299	N	0.02011	-0.69	0.27403	N	0.954802	B	0.10296	0.003	B	0.08055	0.003	T	0.09552	-1.0669	10	0.46703	T	0.11	.	4.458	0.11652	0.4389:0.0:0.5611:0.0	.	2006	O95714	HERC2_HUMAN	M	2006	ENSP00000261609:T2006M	ENSP00000261609:T2006M	T	-	2	0	HERC2	26137241	0.950000	0.32346	0.508000	0.27688	0.406000	0.30931	2.250000	0.43178	1.213000	0.43380	0.650000	0.86243	ACG		0.552	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251358.2	NM_004667		4	81	0	0	0	1	0	4	81					A	28463646	G	A	28463646	3	1	382	1	0	0	0	0	1	0	0	0	7058	1145	40	1	8711	1	HERC2	15	28463646	Missense_Mutation	SNP	G	TCGA-V1-A9O7-01A-21D-A41K-08		28463646	74067746	26	18809											
USP31	57478	broad.mit.edu	37	chr16	23080594	23080594	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tctttgaacacgccttccatGacagccagaggggcccggcc	8	7	11	15	2	1	3	0	2	1	1	2	3	2	3	5	3	2	0	5	3	1	2			TCGA-V1-A9O7-01A-21D-A41K-08	TCGA-V1-A9O7-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d67abdf6-e826-413f-b727-c871fac872c0	e26ab21d-ac72-4d81-b54d-2b6673106efc	g.chr16:23080594G>A	ENST00000219689.7	-	16	2831	c.2832C>T	c.(2830-2832)gtC>gtT	p.V944V	USP31_ENST00000567975.1_Silent_p.V237V	NM_020718.3	NP_065769.3	Q86UV5	UBP48_HUMAN	ubiquitin specific peptidase 31	0	Ubiquitin-like. {ECO:0000255|PROSITE- ProRule:PRU00214}.				ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ubiquitin-specific protease activity (GO:0004843)			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	57				GBM - Glioblastoma multiforme(48;0.0187)		CGCCTTCCATGACAGCCAGAG	0.567																																						ENST00000219689.7																			0				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	57						c.(2830-2832)gtC>gtT		ubiquitin specific peptidase 31							82	84	83					16																	23080594		2197	4300	6497	SO:0001819	synonymous_variant	57478				ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr16:23080594G>A	AB033029	CCDS10607.1	16p12.3	2008-02-05	2005-08-08		ENSG00000103404	ENSG00000103404		"Ubiquitin-specific peptidases"	20060	protein-coding gene	gene with protein product			"ubiquitin specific protease 31"			12838346	Standard	NM_020718		Approved	KIAA1203	uc002dll.3	Q70CQ4	OTTHUMG00000094793	ENST00000219689.7:c.2832C>T	16.37:g.23080594G>A						USP31_ENST00000567975.1_Silent_p.V237V	p.V944V	NM_020718.3	NP_065769.3	Q70CQ4	UBP31_HUMAN		GBM - Glioblastoma multiforme(48;0.0187)	16	2831	-			944			Ser-rich.		B7ZKS7|Q2M3I4|Q5SZI4|Q5T3T5|Q6NX53|Q8N3F6|Q96F64|Q96IQ3|Q9H5N3|Q9H5T7|Q9NUJ6|Q9NXR0	Silent	SNP	ENST00000219689.7	37	c.2832C>T	CCDS10607.1																																																																																				0.567	USP31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211607.1	NM_020718		8	79	0	0	0	1	0	8	79					A	23080594	G	A	23080594	2	1	382	1	0	0	0	0	0	0	0	1	17059	1277	45	3		3	USP31	16	23080594	Silent	SNP	G	TCGA-V1-A9O7-01A-21D-A41K-08		23080594	67274159	27	18810											
NRN1L	123904	broad.mit.edu	37	chr16	67919731	67919731	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgggggacagcatgggccgCggaggcgagctggagaccat	8	5	19	9	3	0	1	0	0	0	1	0	5	0	3	2	6	2	2	2	6	0	1	rs183334989	byFrequency	TCGA-V1-A9O7-01A-21D-A41K-08	TCGA-V1-A9O7-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d67abdf6-e826-413f-b727-c871fac872c0	e26ab21d-ac72-4d81-b54d-2b6673106efc	g.chr16:67919731C>T	ENST00000339176.3	+	2	285	c.186C>T	c.(184-186)cgC>cgT	p.R62R	NRN1L_ENST00000576147.1_5'UTR|CTC-479C5.10_ENST00000572067.1_lincRNA	NM_198443.1	NP_940845.1	Q496H8	NRN1L_HUMAN	neuritin 1-like	62					nervous system development (GO:0007399)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)	7		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.00415)|Epithelial(162;0.0182)|all cancers(182;0.119)		GCATGGGCCGCGGAGGCGAGC	0.612																																						ENST00000339176.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)	7						c.(184-186)cgC>cgT		neuritin 1-like							63	64	64					16																	67919731		2198	4300	6498	SO:0001819	synonymous_variant	123904					anchored to membrane|plasma membrane		g.chr16:67919731C>T	AY358782	CCDS10850.1	16q22.1	2008-02-05			ENSG00000188038	ENSG00000188038			29811	protein-coding gene	gene with protein product						12975309	Standard	NM_198443		Approved	UNQ2446, MRCC2446	uc002euu.3	Q496H8	OTTHUMG00000137541	ENST00000339176.3:c.186C>T	16.37:g.67919731C>T						CTC-479C5.10_ENST00000572067.1_RNA|NRN1L_ENST00000576147.1_5'UTR	p.R62R	NM_198443.1	NP_940845.1	Q496H8	NRN1L_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00415)|Epithelial(162;0.0182)|all cancers(182;0.119)	2	285	+		Ovarian(137;0.192)	62					Q6UWH7	Silent	SNP	ENST00000339176.3	37	c.186C>T	CCDS10850.1																																																																																				0.612	NRN1L-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000268872.2	NM_198443		5	69	0	0	0	1	0	5	69					T	67919731	C	T	67919731	2	4	382	1	0	0	0	0	0	0	0	1	10659	755	27	1		1	NRN1L	16	67919731	Silent	SNP	C	TCGA-V1-A9O7-01A-21D-A41K-08	44839137	67919731	22435022	28	18811											
RUNDC1	146923	broad.mit.edu	37	chr17	41143701	41143701	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tccctgtagatctggctgtgCgccagctcaaaaacatcaaa	12	9	8	12	1	3	1	2	0	1	1	4	1	4	1	2	1	3	3	2	1	4	1			TCGA-V1-A9O7-01A-21D-A41K-08	TCGA-V1-A9O7-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d67abdf6-e826-413f-b727-c871fac872c0	e26ab21d-ac72-4d81-b54d-2b6673106efc	g.chr17:41143701C>T	ENST00000361677.1	+	5	1822	c.1810C>T	c.(1810-1812)Cgc>Tgc	p.R604C		NM_173079.2	NP_775102	Q96C34	RUND1_HUMAN	RUN domain containing 1	604										breast(1)|large_intestine(2)|lung(4)|prostate(1)	8		Breast(137;0.00499)		BRCA - Breast invasive adenocarcinoma(366;0.161)		TCTGGCTGTGCGCCAGCTCAA	0.522																																						ENST00000361677.1																			0				breast(1)|large_intestine(2)|lung(4)|prostate(1)	8						c.(1810-1812)Cgc>Tgc		RUN domain containing 1							58	54	55					17																	41143701		2203	4300	6503	SO:0001583	missense	146923							g.chr17:41143701C>T	AL831813	CCDS11448.1	17q21.31	2004-02-27				ENSG00000198863			25418	protein-coding gene	gene with protein product						12477932	Standard	NM_173079		Approved	DKFZp761H0421	uc002ici.1	Q96C34		ENST00000361677.1:c.1810C>T	17.37:g.41143701C>T	ENSP00000354622:p.Arg604Cys						p.R604C	NM_173079.2	NP_775102.2	Q96C34	RUND1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.161)	5	1822	+		Breast(137;0.00499)	604					Q6Y2K8|Q8IXT9|Q8N3W1	Missense_Mutation	SNP	ENST00000361677.1	37	c.1810C>T	CCDS11448.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.161777	0.78226	.	.	ENSG00000198863	ENST00000361677	T	0.27256	1.68	5.12	5.12	0.69794	.	0.063724	0.64402	D	0.000006	T	0.49643	0.1569	M	0.62723	1.935	0.80722	D	1	D	0.89917	1.0	D	0.68621	0.959	T	0.50083	-0.8869	10	0.87932	D	0	-19.7529	18.7576	0.91838	0.0:1.0:0.0:0.0	.	604	Q96C34	RUND1_HUMAN	C	604	ENSP00000354622:R604C	ENSP00000354622:R604C	R	+	1	0	RUNDC1	38397227	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.708000	0.68377	2.667000	0.90743	0.655000	0.94253	CGC		0.522	RUNDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452464.1	NM_173079		6	64	0	0	0	1	0	6	64					T	41143701	C	T	41143701	3	4	382	1	0	0	0	0	1	0	0	0	13742	768	27	1	1828	1	RUNDC1	17	41143701	Missense_Mutation	SNP	C	TCGA-V1-A9O7-01A-21D-A41K-08		41143701	40051509	29	18812											
UBTF	7343	broad.mit.edu	37	chr17	42293033	42293033	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tccccccaccttcttcttctCcggaagctccttgtatttct	4	16	4	17	1	4	0	0	0	4	0	7	1	6	1	6	1	1	2	6	1	2	6			TCGA-V1-A9O7-01A-21D-A41K-08	TCGA-V1-A9O7-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d67abdf6-e826-413f-b727-c871fac872c0	e26ab21d-ac72-4d81-b54d-2b6673106efc	g.chr17:42293033C>T	ENST00000302904.4	-	5	955	c.463G>A	c.(463-465)Gag>Aag	p.E155K	UBTF_ENST00000393606.3_Missense_Mutation_p.E155K|UBTF_ENST00000527034.1_Missense_Mutation_p.E155K|UBTF_ENST00000537550.1_5'UTR|CTB-175E5.7_ENST00000586560.1_RNA|UBTF_ENST00000533177.1_Missense_Mutation_p.E155K|UBTF_ENST00000526094.1_Missense_Mutation_p.E155K|UBTF_ENST00000436088.1_Missense_Mutation_p.E155K|UBTF_ENST00000529383.1_Missense_Mutation_p.E155K|UBTF_ENST00000343638.5_Missense_Mutation_p.E155K			P17480	UBF1_HUMAN	upstream binding transcription factor, RNA polymerase I	155					chromatin silencing at rDNA (GO:0000183)|gene expression (GO:0010467)|positive regulation of transcription from RNA polymerase I promoter (GO:0045943)|regulation of transcription from RNA polymerase I promoter (GO:0006356)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(10)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Breast(137;0.00765)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.114)		TTCTTCTTCTCCGGAAGCTCC	0.547																																						ENST00000302904.4																			0				breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(10)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(463-465)Gag>Aag		upstream binding transcription factor, RNA polymerase I							101	105	104					17																	42293033		2203	4300	6503	SO:0001583	missense	7343				positive regulation of transcription from RNA polymerase I promoter|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	nucleolus|nucleoplasm	DNA binding|protein binding	g.chr17:42293033C>T	BC042297	CCDS11480.1, CCDS42346.1	17q21.31	2014-03-25			ENSG00000108312	ENSG00000108312			12511	protein-coding gene	gene with protein product		600673				9126496	Standard	NM_001076683		Approved	UBF, NOR-90, UBF1, UBF2	uc010czs.3	P17480	OTTHUMG00000167585	ENST00000302904.4:c.463G>A	17.37:g.42293033C>T	ENSP00000302640:p.Glu155Lys					UBTF_ENST00000529383.1_Missense_Mutation_p.E155K|UBTF_ENST00000526094.1_Missense_Mutation_p.E155K|CTB-175E5.7_ENST00000586560.1_RNA|UBTF_ENST00000527034.1_Missense_Mutation_p.E155K|UBTF_ENST00000436088.1_Missense_Mutation_p.E155K|UBTF_ENST00000343638.5_Missense_Mutation_p.E155K|UBTF_ENST00000393606.3_Missense_Mutation_p.E155K|UBTF_ENST00000537550.1_5'UTR|UBTF_ENST00000533177.1_Missense_Mutation_p.E155K	p.E155K			P17480	UBF1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.114)	5	955	-		Breast(137;0.00765)|Prostate(33;0.0181)	155					A8K6R8	Missense_Mutation	SNP	ENST00000302904.4	37	c.463G>A	CCDS11480.1	.	.	.	.	.	.	.	.	.	.	c	33	5.203150	0.95033	.	.	ENSG00000108312	ENST00000343638;ENST00000302904;ENST00000527034;ENST00000533177;ENST00000436088;ENST00000393606;ENST00000526094;ENST00000529383;ENST00000530828	D;D;D;D;D;D;D;D;D	0.98221	-4.8;-4.8;-4.8;-4.8;-4.8;-4.8;-4.8;-4.8;-4.8	4.27	4.27	0.50696	High mobility group, superfamily (1);High mobility group, HMG1/HMG2 (4);	0.120227	0.56097	D	0.000039	D	0.98507	0.9502	M	0.84511	2.7	0.58432	D	0.999994	P;P;P	0.46578	0.88;0.551;0.775	P;B;P	0.52454	0.699;0.295;0.689	D	0.99167	1.0863	10	0.49607	T	0.09	-28.6178	16.6665	0.85254	0.0:1.0:0.0:0.0	.	155;155;155	E9PKP7;P17480-2;P17480	.;.;UBF1_HUMAN	K	155;155;155;155;155;155;155;155;127	ENSP00000345297:E155K;ENSP00000302640:E155K;ENSP00000431539:E155K;ENSP00000437180:E155K;ENSP00000390669:E155K;ENSP00000377231:E155K;ENSP00000432925:E155K;ENSP00000435708:E155K;ENSP00000433046:E127K	ENSP00000302640:E155K	E	-	1	0	UBTF	39648559	1.000000	0.71417	0.998000	0.56505	0.990000	0.78478	7.713000	0.84693	2.082000	0.62665	0.467000	0.42956	GAG		0.547	UBTF-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395205.1	NM_014233		21	131	0	0	0	1	0	21	131					T	42293033	C	T	42293033	3	4	382	1	0	0	0	0	1	0	0	0	16906	864	30	3	1899	3	UBTF	17	42293033	Missense_Mutation	SNP	C	TCGA-V1-A9O7-01A-21D-A41K-08	1149332	42293033	38902177	30	18813											
HOXB1	3211	broad.mit.edu	37	chr17	46608026	46608026	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggcaggagcataccccgaggGcgcggagctggggaagggca	9	2	20	10	3	0	0	0	0	0	0	0	4	0	3	2	7	3	4	2	7	2	1			TCGA-V1-A9O7-01A-21D-A41K-08	TCGA-V1-A9O7-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d67abdf6-e826-413f-b727-c871fac872c0	e26ab21d-ac72-4d81-b54d-2b6673106efc	g.chr17:46608026G>T	ENST00000239174.6	-	1	333	c.241C>A	c.(241-243)Ccc>Acc	p.P81T	HOXB1_ENST00000577092.1_Missense_Mutation_p.P81T	NM_002144.3	NP_002135.2	P14653	HXB1_HUMAN	homeobox B1	81					anatomical structure formation involved in morphogenesis (GO:0048646)|anterior/posterior pattern specification (GO:0009952)|embryonic skeletal system morphogenesis (GO:0048704)|facial nerve structural organization (GO:0021612)|facial nucleus development (GO:0021754)|multicellular organismal development (GO:0007275)|pattern specification process (GO:0007389)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|rhombomere 4 development (GO:0021570)|rhombomere 5 development (GO:0021571)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|protein domain specific binding (GO:0019904)|sequence-specific DNA binding (GO:0043565)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						TACCCCGAGGGCGCGGAGCTG	0.657																																						ENST00000239174.6																			0				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						c.(241-243)Ccc>Acc		homeobox B1							39	45	43					17																	46608026		2203	4300	6503	SO:0001583	missense	3211					nucleus	protein domain specific binding|sequence-specific DNA binding transcription factor activity	g.chr17:46608026G>T		CCDS32675.1	17q21.32	2011-06-20	2005-12-22		ENSG00000120094	ENSG00000120094		"Homeoboxes / ANTP class : HOXL subclass"	5111	protein-coding gene	gene with protein product		142968	"homeo box B1"	HOX2, HOX2I		1973146, 1358459	Standard	NM_002144		Approved		uc002ink.1	P14653	OTTHUMG00000159929	ENST00000239174.6:c.241C>A	17.37:g.46608026G>T	ENSP00000355140:p.Pro81Thr					HOXB1_ENST00000577092.1_Missense_Mutation_p.P81T	p.P81T	NM_002144.3	NP_002135.2	P14653	HXB1_HUMAN			1	333	-			81					Q4VB03	Missense_Mutation	SNP	ENST00000239174.6	37	c.241C>A	CCDS32675.1	.	.	.	.	.	.	.	.	.	.	G	0.013	-1.624937	0.00820	.	.	ENSG00000120094	ENST00000239174	D	0.89875	-2.58	4.57	1.39	0.22231	.	0.367561	0.19987	N	0.101645	T	0.73976	0.3656	N	0.12887	0.27	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.54556	-0.8276	10	0.02654	T	1	.	11.6933	0.51529	0.0:0.1177:0.7314:0.1509	.	81	P14653	HXB1_HUMAN	T	81	ENSP00000355140:P81T	ENSP00000355140:P81T	P	-	1	0	HOXB1	43963025	0.000000	0.05858	0.562000	0.28370	0.935000	0.57460	-0.053000	0.11846	0.125000	0.18397	0.551000	0.68910	CCC		0.657	HOXB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358383.3			14	95	1	0	2.32078e-09	1	2.57304e-09	14	95					T	46608026	G	T	46608026	3	4	382	1	0	0	0	0	1	0	0	0	7299	1203	42	5	672	5	HOXB1	17	46608026	Missense_Mutation	SNP	G	TCGA-V1-A9O7-01A-21D-A41K-08	4314993	46608026	34587184	31	18814											
HEXDC	284004	broad.mit.edu	37	chr17	80400435	80400435	+	3'UTR	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggggagagactagaaaacacAgaaggaagcagcacagggag	18	1	16	6	0	0	3	0	0	0	3	0	7	0	6	0	4	3	2	0	4	5	1			TCGA-V1-A9O7-01A-21D-A41K-08	TCGA-V1-A9O7-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d67abdf6-e826-413f-b727-c871fac872c0	e26ab21d-ac72-4d81-b54d-2b6673106efc	g.chr17:80400435A>T	ENST00000327949.9	+	0	1647				HEXDC_ENST00000337014.6_Silent_p.T575T|HEXDC_ENST00000577944.1_3'UTR			Q8WVB3	HEXDC_HUMAN	hexosaminidase (glycosyl hydrolase family 20, catalytic domain) containing						carbohydrate metabolic process (GO:0005975)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	beta-N-acetylhexosaminidase activity (GO:0004563)			breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	16	Breast(20;0.00106)|all_neural(118;0.0804)		OV - Ovarian serous cystadenocarcinoma(97;0.0143)|BRCA - Breast invasive adenocarcinoma(99;0.0369)			TAGAAAACACAGAAGGAAGCA	0.577																																						ENST00000337014.6																			0				breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	16						c.(1723-1725)acA>acT		hexosaminidase (glycosyl hydrolase family 20, catalytic domain) containing							76	86	83					17																	80400435		1981	4168	6149	SO:0001624	3_prime_UTR_variant	284004				carbohydrate metabolic process	cytoplasm|nucleus	beta-N-acetylhexosaminidase activity|cation binding	g.chr17:80400435A>T	AK074405	CCDS42402.1	17q25.3	2011-12-19			ENSG00000169660	ENSG00000169660			26307	protein-coding gene	gene with protein product						12477932	Standard	NM_173620		Approved	FLJ23825	uc002kev.4	Q8WVB3		ENST00000327949.9:c.*175A>T	17.37:g.80400435A>T						HEXDC_ENST00000577944.1_3'UTR|HEXDC_ENST00000327949.9_3'UTR	p.T575T	NM_173620.2	NP_775891.2	Q8WVB3	HEXDC_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0143)|BRCA - Breast invasive adenocarcinoma(99;0.0369)		12	2199	+	Breast(20;0.00106)|all_neural(118;0.0804)		0					B7UUP6|Q8IYN4|Q8TE81	Silent	SNP	ENST00000327949.9	37	c.1725A>T																																																																																					0.577	HEXDC-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000443513.1	NM_173620		11	98	0	0	0	1	0	11	98					T	80400435	A	T	80400435	1	4	382	0	1	0	0	0	0	0	0	0	7075	175	7	5		5	HEXDC	17	80400435	3'UTR	SNP	A	TCGA-V1-A9O7-01A-21D-A41K-08	33792409	80400435	794775	32	18815											
XAB2	56949	broad.mit.edu	37	chr19	7693125	7693125	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aactcgatgtagcgaagccaGcatttgacagagaattggtt	13	10	11	7	2	0	2	0	1	0	1	1	5	0	2	1	1	4	3	1	1	4	4			TCGA-V1-A9O7-01A-21D-A41K-08	TCGA-V1-A9O7-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d67abdf6-e826-413f-b727-c871fac872c0	e26ab21d-ac72-4d81-b54d-2b6673106efc	g.chr19:7693125G>C	ENST00000358368.4	-	2	148	c.111C>G	c.(109-111)tgC>tgG	p.C37W	PET100_ENST00000601406.1_5'Flank|PET100_ENST00000456958.3_5'Flank|CTD-3214H19.4_ENST00000595866.1_5'Flank|PET100_ENST00000594797.1_5'Flank|XAB2_ENST00000534844.1_Missense_Mutation_p.C34W	NM_020196.2	NP_064581.2	Q9HCS7	SYF1_HUMAN	XPA binding protein 2	37					blastocyst development (GO:0001824)|DNA repair (GO:0006281)|mRNA splicing, via spliceosome (GO:0000398)|nucleotide-excision repair (GO:0006289)|transcription, DNA-templated (GO:0006351)|transcription-coupled nucleotide-excision repair (GO:0006283)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				breast(1)|central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	26						AGCGAAGCCAGCATTTGACAG	0.582								Direct reversal of damage;Nucleotide excision repair (NER)																														ENST00000358368.4																			0				breast(1)|central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	26						c.(109-111)tgC>tgG	Direct reversal of damage;Nucleotide excision repair (NER)	XPA binding protein 2							109	94	99					19																	7693125		2203	4300	6503	SO:0001583	missense	56949				transcription, DNA-dependent|transcription-coupled nucleotide-excision repair	catalytic step 2 spliceosome|nucleoplasm	protein binding	g.chr19:7693125G>C	AB026111	CCDS32892.1	19p13.3	2013-08-21				ENSG00000076924			14089	protein-coding gene	gene with protein product	"SYF1 homolog, RNA splicing factor (S. cerevisiae)", "SYF1 pre-mRNA-splicing factor"	610850				10944529	Standard	NM_020196		Approved	HCNP, HCRN, SYF1, NTC90	uc002mgx.3	Q9HCS7		ENST00000358368.4:c.111C>G	19.37:g.7693125G>C	ENSP00000351137:p.Cys37Trp					XAB2_ENST00000534844.1_Missense_Mutation_p.C34W	p.C37W	NM_020196.2	NP_064581.2	Q9HCS7	SYF1_HUMAN			2	148	-			37					Q8TET6|Q96HB0|Q96IW0|Q9NRG6|Q9ULP3	Missense_Mutation	SNP	ENST00000358368.4	37	c.111C>G	CCDS32892.1	.	.	.	.	.	.	.	.	.	.	G	15.94	2.979720	0.53827	.	.	ENSG00000076924	ENST00000358368;ENST00000534844	T;T	0.34275	1.37;1.37	4.91	2.34	0.29019	.	0.054642	0.85682	D	0.000000	T	0.44664	0.1304	M	0.71581	2.175	0.80722	D	1	D	0.65815	0.995	P	0.51193	0.662	T	0.45440	-0.9261	10	0.38643	T	0.18	-41.7195	11.6229	0.51128	0.1814:0.0:0.8186:0.0	.	37	Q9HCS7	SYF1_HUMAN	W	37;34	ENSP00000351137:C37W;ENSP00000438225:C34W	ENSP00000351137:C37W	C	-	3	2	XAB2	7599125	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.261000	0.43276	1.061000	0.40601	0.561000	0.74099	TGC		0.582	XAB2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000461021.1	NM_020196		5	41	0	0	0	1	0	5	41					C	7693125	G	C	7693125	3	2	382	1	0	0	0	0	1	0	0	0	17415	963	34	5	2528	5	XAB2	19	7693125	Missense_Mutation	SNP	G	TCGA-V1-A9O7-01A-21D-A41K-08		7693125	51435858	33	18816											
LILRA3	11026	broad.mit.edu	37	chr19	54802057	54802057	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atggggaattcagcctggtaCttatgagattggcgctttga	9	13	13	6	1	1	2	1	2	0	1	1	4	1	3	1	4	2	2	1	4	3	5			TCGA-V1-A9O7-01A-21D-A41K-08	TCGA-V1-A9O7-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d67abdf6-e826-413f-b727-c871fac872c0	e26ab21d-ac72-4d81-b54d-2b6673106efc	g.chr19:54802057C>T	ENST00000251390.3	-	6	1222	c.1131G>A	c.(1129-1131)aaG>aaA	p.K377K	LILRA3_ENST00000391744.3_Silent_p.K313K|LILRA3_ENST00000391745.1_Silent_p.K394K	NM_006865.3	NP_006856.3	Q8N6C8	LIRA3_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (without TM domain), member 3	377	Ig-like C2-type 4.				defense response (GO:0006952)|immune system process (GO:0002376)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)|receptor activity (GO:0004872)			NS(3)|breast(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		CAGCCTGGTACTTATGAGATT	0.572																																						ENST00000391745.1																			0				NS(3)|breast(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						c.(1180-1182)aaG>aaA		leukocyte immunoglobulin-like receptor, subfamily A (without TM domain), member 3							131	117	122					19																	54802057		2193	4173	6366	SO:0001819	synonymous_variant	0							g.chr19:54802057C>T	U91926		19q13.4	2013-01-11						"Leukocyte immunoglobulin-like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6604	protein-coding gene	gene with protein product		604818				9278324, 9548455	Standard	XM_006710242		Approved	LIR-4, HM43, ILT6, HM31, LIR4, CD85e		Q8N6C8		ENST00000251390.3:c.1131G>A	19.37:g.54802057C>T						LILRA3_ENST00000391744.3_Silent_p.K313K|LILRA3_ENST00000251390.3_Silent_p.K377K	p.K394K						GBM - Glioblastoma multiforme(193;0.105)	10	1498	-	Ovarian(34;0.19)							J3KPM2|O15469|O15470|O75016|Q8N151|Q8N154|Q8NHJ1|Q8NHJ2|Q8NHJ3|Q8NHJ4	Silent	SNP	ENST00000251390.3	37	c.1182G>A	CCDS12887.1																																																																																				0.572	LILRA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000140236.1			12	135	0	0	0	1	0	12	135					T	54802057	C	T	54802057	2	4	382	1	0	0	0	0	0	0	0	1	8786	564	20	3		3	LILRA3	19	54802057	Silent	SNP	C	TCGA-V1-A9O7-01A-21D-A41K-08	47108932	54802057	4326926	34	18817											
IL3RA	3563	broad.mit.edu	37	chrX	1497571	1497571	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagtgcgaccaggaggagggCgcaaacacacgtgcctggcg	10	3	17	11	4	0	0	0	0	0	0	0	4	0	2	2	4	3	1	2	4	1	0			TCGA-V1-A9O7-01A-21D-A41K-08	TCGA-V1-A9O7-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d67abdf6-e826-413f-b727-c871fac872c0	e26ab21d-ac72-4d81-b54d-2b6673106efc	g.chrX:1497571C>A	ENST00000331035.4	+	10	1243	c.894C>A	c.(892-894)ggC>ggA	p.G298G	IL3RA_ENST00000381469.2_Silent_p.G220G	NM_001267713.1|NM_002183.3	NP_001254642.1|NP_002174.1	P26951	IL3RA_HUMAN	interleukin 3 receptor, alpha (low affinity)	298					cellular response to interleukin-3 (GO:0036016)|interleukin-3-mediated signaling pathway (GO:0038156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	interleukin-3 receptor activity (GO:0004912)			lung(1)|skin(2)	3		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Sargramostim(DB00020)	AGGAGGAGGGCGCAAACACAC	0.672																																						ENST00000331035.4																			0				lung(1)|skin(2)	3						c.(892-894)ggC>ggA		interleukin 3 receptor, alpha (low affinity)	Sargramostim(DB00020)						112	89	97					X																	1497571		2200	4295	6495	SO:0001819	synonymous_variant	3563					integral to membrane|plasma membrane	interleukin-3 receptor activity	g.chrX:1497571C>A	M74782	CCDS14113.1, CCDS59158.1	Xp22.3 and Yp13.3	2008-07-21			ENSG00000185291	ENSG00000185291		"Pseudoautosomal regions / PAR1", "Interleukins and interleukin receptors", "CD molecules"	6012	protein-coding gene	gene with protein product		308385, 430000				1833064	Standard	NM_002183		Approved	CD123	uc004cps.3	P26951	OTTHUMG00000021059	ENST00000331035.4:c.894C>A	X.37:g.1497571C>A						IL3RA_ENST00000381469.2_Silent_p.G220G	p.G298G	NM_001267713.1|NM_002183.3	NP_001254642.1|NP_002174.1	P26951	IL3RA_HUMAN			10	1243	+		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)	298					A8K3F3|B9VI81|Q5HYQ7|Q5HYQ8|Q9UEH7	Silent	SNP	ENST00000331035.4	37	c.894C>A	CCDS14113.1																																																																																				0.672	IL3RA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055600.3			3	22	1	0	0.115264	1	0.115264	3	22					A	1497571	C	A	1497571	2	1	382	1	0	0	0	0	0	0	0	1	7695	755	27	5		5	IL3RA	23	1497571	Silent	SNP	C	TCGA-V1-A9O7-01A-21D-A41K-08		1497571	153772989	35	18818											
FMR1	2332	broad.mit.edu	37	chrX	147024667	147024667	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ataggaagtagaccagttgcGtttggagagattacaaattg	14	11	12	4	1	0	2	0	0	0	2	0	5	0	4	1	2	2	3	1	2	5	6			TCGA-V1-A9O7-01A-21D-A41K-08	TCGA-V1-A9O7-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d67abdf6-e826-413f-b727-c871fac872c0	e26ab21d-ac72-4d81-b54d-2b6673106efc	g.chrX:147024667G>A	ENST00000370475.4	+	14	1420	c.1292G>A	c.(1291-1293)cGt>cAt	p.R431H	FMR1_ENST00000218200.8_Missense_Mutation_p.R410H|FMR1_ENST00000440235.2_Missense_Mutation_p.R78H|FMR1_ENST00000439526.2_Missense_Mutation_p.R408H|FMR1_ENST00000370471.3_Intron|FMR1_ENST00000370477.1_Missense_Mutation_p.R410H|FMR1_ENST00000370470.1_Missense_Mutation_p.R431H|FMR1_ENST00000492846.1_3'UTR	NM_002024.5	NP_002015.1	Q06787	FMR1_HUMAN	fragile X mental retardation 1	431	Interaction with RANBP9.				central nervous system development (GO:0007417)|mRNA transport (GO:0051028)|negative regulation of translational initiation (GO:0045947)	cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytoplasmic stress granule (GO:0010494)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|membrane (GO:0016020)|mRNA cap binding complex (GO:0005845)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|synapse (GO:0045202)	mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.R431H(1)		NS(1)|breast(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(13)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	35	Acute lymphoblastic leukemia(192;6.56e-05)					GACCAGTTGCGTTTGGAGAGA	0.323									Fragile X syndrome																													ENST00000218200.8																			1	Substitution - Missense(1)	p.R431H(1)	large_intestine(1)	NS(1)|breast(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(13)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	35						c.(1228-1230)cGt>cAt		fragile X mental retardation 1							125	115	118					X																	147024667		2203	4300	6503	SO:0001583	missense	2332	Fragile X syndrome	Familial Cancer Database	Martin-Bell syndrome, FRAXA syndrome	mRNA transport|negative regulation of translational initiation	cytoplasm|mRNA cap binding complex|nucleolus|nucleoplasm|soluble fraction	mRNA binding|protein binding	g.chrX:147024667G>A	X69962	CCDS14682.1, CCDS55518.1, CCDS55519.1, CCDS76039.1	Xq27.3	2014-09-17			ENSG00000102081	ENSG00000102081			3775	protein-coding gene	gene with protein product		309550	"premature ovarian failure 1"	POF1, POF		1572655	Standard	NM_002024		Approved	FMRP, FRAXA, MGC87458	uc010nst.3	Q06787	OTTHUMG00000022606	ENST00000370475.4:c.1292G>A	X.37:g.147024667G>A	ENSP00000359506:p.Arg431His					FMR1_ENST00000370471.3_Intron|FMR1_ENST00000492846.1_3'UTR|FMR1_ENST00000439526.2_Missense_Mutation_p.R408H|FMR1_ENST00000370477.1_Missense_Mutation_p.R410H|FMR1_ENST00000370470.1_Missense_Mutation_p.R431H|FMR1_ENST00000370475.4_Missense_Mutation_p.R431H|FMR1_ENST00000440235.2_Missense_Mutation_p.R78H	p.R410H	NM_001185076.1|NM_001185082.1	NP_001172005.1|NP_001172011.1	Q06787	FMR1_HUMAN			13	1458	+	Acute lymphoblastic leukemia(192;6.56e-05)		431					A6NNH4|D3DWT0|D3DWT1|D3DWT2|G8JL90|Q16578|Q5PQZ6|Q99054	Missense_Mutation	SNP	ENST00000370475.4	37	c.1229G>A	CCDS14682.1	.	.	.	.	.	.	.	.	.	.	G	17.40	3.380984	0.61845	.	.	ENSG00000102081	ENST00000218200;ENST00000370477;ENST00000370475;ENST00000439526;ENST00000370470;ENST00000440235	T;T;T;T;T;T	0.41065	1.01;1.01;1.01;1.01;1.01;1.01	5.73	5.73	0.89815	.	0.103776	0.64402	D	0.000003	T	0.60843	0.2300	L	0.51422	1.61	0.58432	D	0.999999	D;B;D;P;P	0.89917	1.0;0.428;0.968;0.661;0.471	D;B;P;B;B	0.83275	0.996;0.394;0.749;0.222;0.156	T	0.60964	-0.7158	10	0.56958	D	0.05	-20.9072	17.7241	0.88360	0.0:0.0:1.0:0.0	.	78;431;326;410;408	F8W871;Q06787;Q59GC1;Q06787-8;G3V0J0	.;FMR1_HUMAN;.;.;.	H	410;410;431;408;431;78	ENSP00000218200:R410H;ENSP00000359508:R410H;ENSP00000359506:R431H;ENSP00000395923:R408H;ENSP00000359501:R431H;ENSP00000413764:R78H	ENSP00000218200:R410H	R	+	2	0	FMR1	146832359	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.058000	0.76676	2.404000	0.81709	0.600000	0.82982	CGT		0.323	FMR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058655.1	NM_002024		11	43	0	0	0	1	0	11	43					A	147024667	G	A	147024667	3	1	382	1	0	0	0	0	1	0	0	0	5960	1145	40	1	1346	1	FMR1	23	147024667	Missense_Mutation	SNP	G	TCGA-V1-A9O7-01A-21D-A41K-08	145527096	147024667	8245893	36	18819											
CA6	765	broad.mit.edu	37	chr1	9019055	9019055	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttggctgtactggcagccttCgttgaggtaagcagaaacta	10	11	12	8	1	0	2	0	1	0	1	1	2	0	2	1	3	4	6	1	3	4	6			TCGA-V1-A9O9-01A-11D-A41K-08	TCGA-V1-A9O9-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcad0c26-dab3-4bf0-9ef6-a5be33131a61	8636a67d-a41b-4d6d-ad70-2f28e9aeda6e	g.chr1:9019055C>T	ENST00000377443.2	+	4	499	c.495C>T	c.(493-495)ttC>ttT	p.F165F	CA6_ENST00000377436.3_Silent_p.F165F|CA6_ENST00000476083.1_3'UTR|CA6_ENST00000377442.2_Silent_p.F105F	NM_001215.3	NP_001206.2	P23280	CAH6_HUMAN	carbonic anhydrase VI	165					bicarbonate transport (GO:0015701)|detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|one-carbon metabolic process (GO:0006730)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	carbonate dehydratase activity (GO:0004089)|zinc ion binding (GO:0008270)	p.F165F(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|skin(5)	16	Ovarian(185;0.112)|all_lung(157;0.143)	all_epithelial(116;1.02e-19)|all_lung(118;3.6e-06)|Lung NSC(185;7.94e-06)|Renal(390;0.000147)|Breast(348;0.00123)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.9e-07)|COAD - Colon adenocarcinoma(227;8.28e-05)|Kidney(185;0.000268)|KIRC - Kidney renal clear cell carcinoma(229;0.000971)|STAD - Stomach adenocarcinoma(132;0.00184)|BRCA - Breast invasive adenocarcinoma(304;0.00192)|READ - Rectum adenocarcinoma(331;0.0649)	Mafenide(DB06795)|Zonisamide(DB00909)	TGGCAGCCTTCGTTGAGGTAA	0.408																																						ENST00000377443.2																			1	Substitution - coding silent(1)	p.F165F(1)	ovary(1)	endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|skin(5)	16						c.(493-495)ttC>ttT		carbonic anhydrase VI							136	139	138					1																	9019055		2203	4300	6503	SO:0001819	synonymous_variant	765				one-carbon metabolic process	extracellular region	carbonate dehydratase activity|zinc ion binding	g.chr1:9019055C>T	M57892	CCDS30578.1, CCDS57970.1, CCDS57971.1	1p36.2	2008-02-05			ENSG00000131686	ENSG00000131686	4.2.1.1	"Carbonic anhydrases"	1380	protein-coding gene	gene with protein product		114780				9691177	Standard	NM_001215		Approved		uc031plc.1	P23280	OTTHUMG00000001763	ENST00000377443.2:c.495C>T	1.37:g.9019055C>T						CA6_ENST00000377442.2_Silent_p.F105F|CA6_ENST00000476083.1_3'UTR|CA6_ENST00000377436.3_Silent_p.F165F	p.F165F	NM_001215.3	NP_001206.2	P23280	CAH6_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.9e-07)|COAD - Colon adenocarcinoma(227;8.28e-05)|Kidney(185;0.000268)|KIRC - Kidney renal clear cell carcinoma(229;0.000971)|STAD - Stomach adenocarcinoma(132;0.00184)|BRCA - Breast invasive adenocarcinoma(304;0.00192)|READ - Rectum adenocarcinoma(331;0.0649)	4	499	+	Ovarian(185;0.112)|all_lung(157;0.143)	all_epithelial(116;1.02e-19)|all_lung(118;3.6e-06)|Lung NSC(185;7.94e-06)|Renal(390;0.000147)|Breast(348;0.00123)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)	165					E7EMQ1|Q5FBW3|Q5FC00|Q96QX8|Q9UF03	Silent	SNP	ENST00000377443.2	37	c.495C>T	CCDS30578.1																																																																																				0.408	CA6-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000004911.1			11	121	0	0	0	1	0	11	121					T	9019055	C	T	9019055	2	4	383	1	0	0	0	0	0	0	0	1	2521	883	31	2		2	CA6	1	9019055	Silent	SNP	C	TCGA-V1-A9O9-01A-11D-A41K-08		9019055	240231566	1	18820											
HNRNPR	10236	broad.mit.edu	37	chr1	23637069	23637069	+	Frame_Shift_Del	DEL	A	A	-																															agcgatgggttgggaaccccAgttctgttggttgttggtct																										TCGA-V1-A9O9-01A-11D-A41K-08	TCGA-V1-A9O9-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcad0c26-dab3-4bf0-9ef6-a5be33131a61	8636a67d-a41b-4d6d-ad70-2f28e9aeda6e	g.chr1:23637069delA	ENST00000374612.1	-	11	1903	c.1780delT	c.(1780-1782)tggfs	p.W594fs	HNRNPR_ENST00000427764.2_Frame_Shift_Del_p.W556fs|HNRNPR_ENST00000374616.3_Frame_Shift_Del_p.W597fs|HNRNPR_ENST00000426846.2_Frame_Shift_Del_p.W434fs|HNRNPR_ENST00000478691.1_Frame_Shift_Del_p.W496fs|HNRNPR_ENST00000606561.1_Frame_Shift_Del_p.W455fs|HNRNPR_ENST00000302271.6_Frame_Shift_Del_p.W594fs|HNRNPR_ENST00000476660.1_5'UTR	NM_001102398.1|NM_005826.3	NP_001095868.1|NP_005817.1	O43390	HNRPR_HUMAN	heterogeneous nuclear ribonucleoprotein R	594	Asn/Gln-rich.				gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00394)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;6.83e-27)|Colorectal(126;6.01e-08)|COAD - Colon adenocarcinoma(152;3.32e-06)|GBM - Glioblastoma multiforme(114;6.69e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|KIRC - Kidney renal clear cell carcinoma(1967;0.00357)|STAD - Stomach adenocarcinoma(196;0.0131)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0875)|LUSC - Lung squamous cell carcinoma(448;0.19)		TGGGAACCCCAGTTCTGTTGG	0.502																																						ENST00000478691.1																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(1486-1488)ggfs		heterogeneous nuclear ribonucleoprotein R							202	179	187					1																	23637069		2203	4300	6503	SO:0001589	frameshift_variant	10236					catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|RNA binding	g.chr1:23637069delA	AF000364	CCDS232.1, CCDS44085.1, CCDS60020.1, CCDS72726.1, CCDS72727.1	1p36.12	2013-02-12		2007-08-16	ENSG00000125944	ENSG00000125944		"RNA binding motif (RRM) containing"	5047	protein-coding gene	gene with protein product		607201		HNRPR		9421497	Standard	XM_005245711		Approved	hnRNP-R	uc001bgp.4	O43390	OTTHUMG00000003224	ENST00000374612.1:c.1780delT	1.37:g.23637069delA	ENSP00000363741:p.Trp594fs					HNRNPR_ENST00000427764.2_Frame_Shift_Del_p.W556fs|HNRNPR_ENST00000426846.2_Frame_Shift_Del_p.W434fs|HNRNPR_ENST00000606561.1_Frame_Shift_Del_p.W455fs|HNRNPR_ENST00000374612.1_Frame_Shift_Del_p.W594fs|HNRNPR_ENST00000374616.3_Frame_Shift_Del_p.W597fs|HNRNPR_ENST00000302271.6_Frame_Shift_Del_p.W594fs|HNRNPR_ENST00000476660.1_5'UTR	p.W496fs	NM_001102397.1|NM_001102399.1	NP_001095867.1|NP_001095869.1	O43390	HNRPR_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;6.83e-27)|Colorectal(126;6.01e-08)|COAD - Colon adenocarcinoma(152;3.32e-06)|GBM - Glioblastoma multiforme(114;6.69e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|KIRC - Kidney renal clear cell carcinoma(1967;0.00357)|STAD - Stomach adenocarcinoma(196;0.0131)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0875)|LUSC - Lung squamous cell carcinoma(448;0.19)	10	1757	-		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00394)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)	594			3 X 11 AA approximate repeats of D-D-Y-Y- G-Y-D-Y-H-D-Y.|RNA-binding RGG-box.		Q2L7G6|Q5TEH1|Q9BV64|S4R3J4	Frame_Shift_Del	DEL	ENST00000374612.1	37	c.1486delT	CCDS232.1																																																																																				0.502	HNRNPR-003	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000008889.1	NM_005826		23	145						23	145	---	---	---	---	-	23637069	A	-	23637069	7	5	383	1	0	1	0	1	0	0	0	0	7272	188	7	0	125	0	HNRNPR	1	23637069	Frame_Shift_Del	DEL	A	TCGA-V1-A9O9-01A-11D-A41K-08	14618014	23637069	225613552	2	18821											
PPP1R8	5511	broad.mit.edu	37	chr1	28167550	28167550	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcactttcttgggtcacatTcggttggaacctcacaagcc	8	11	10	12	1	3	0	2	0	1	0	4	1	3	1	2	4	2	2	2	4	2	4			TCGA-V1-A9O9-01A-11D-A41K-08	TCGA-V1-A9O9-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcad0c26-dab3-4bf0-9ef6-a5be33131a61	8636a67d-a41b-4d6d-ad70-2f28e9aeda6e	g.chr1:28167550T>G	ENST00000311772.5	+	4	355	c.297T>G	c.(295-297)atT>atG	p.I99M	PPP1R8_ENST00000373931.4_5'UTR|PPP1R8_ENST00000236412.7_Intron	NM_014110.4	NP_054829.2	Q12972	PP1R8_HUMAN	protein phosphatase 1, regulatory subunit 8	99	FHA. {ECO:0000255|PROSITE- ProRule:PRU00086}.|Interaction with CDC5L, SF3B1 and MELK.				cell proliferation (GO:0008283)|mRNA processing (GO:0006397)|negative regulation of catalytic activity (GO:0043086)|regulation of transcription, DNA-templated (GO:0006355)|RNA catabolic process (GO:0006401)|RNA phosphodiester bond hydrolysis (GO:0090501)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	DNA binding (GO:0003677)|endonuclease activity (GO:0004519)|protein phosphatase type 1 regulator activity (GO:0008599)|protein serine/threonine phosphatase inhibitor activity (GO:0004865)|ribonuclease E activity (GO:0008995)|RNA binding (GO:0003723)			breast(2)|cervix(1)|endometrium(2)|lung(2)|upper_aerodigestive_tract(1)	8		Colorectal(325;3.46e-05)|all_lung(284;0.000129)|Lung NSC(340;0.000259)|Renal(390;0.00121)|Breast(348;0.00345)|Ovarian(437;0.00503)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0419)|OV - Ovarian serous cystadenocarcinoma(117;2.76e-24)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00248)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0649)		TGGGTCACATTCGGTTGGAAC	0.483																																						ENST00000311772.5																			0				breast(2)|cervix(1)|endometrium(2)|lung(2)|upper_aerodigestive_tract(1)	8						c.(295-297)atT>atG		protein phosphatase 1, regulatory subunit 8							140	139	140					1																	28167550		2203	4300	6503	SO:0001583	missense	5511				mRNA processing|regulation of transcription, DNA-dependent|RNA catabolic process|RNA splicing|transcription, DNA-dependent	cytoplasm|nuclear speck|spliceosomal complex	DNA binding|endonuclease activity|protein binding|protein serine/threonine phosphatase inhibitor activity|ribonuclease E activity|RNA binding	g.chr1:28167550T>G	AF061959	CCDS311.1, CCDS312.1, CCDS313.1	1p35.3	2012-04-17	2011-10-04		ENSG00000117751	ENSG00000117751		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	9296	protein-coding gene	gene with protein product	"RNase E", "nuclear subunit of PP-1", "nuclear inhibitor of protein phosphatase-1", "activator of RNA decay", "protein phosphatase 1 regulatory subunit 8"	602636	"protein phosphatase 1, regulatory (inhibitor) subunit 8"			7524097, 8473324	Standard	NM_014110		Approved	ard-1, NIPP-1, PRO2047, ARD1, NIPP1	uc001bov.2	Q12972	OTTHUMG00000003734	ENST00000311772.5:c.297T>G	1.37:g.28167550T>G	ENSP00000311677:p.Ile99Met					PPP1R8_ENST00000236412.7_Intron|PPP1R8_ENST00000373931.4_5'UTR	p.I99M	NM_014110.4	NP_054829.2	Q12972	PP1R8_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0419)|OV - Ovarian serous cystadenocarcinoma(117;2.76e-24)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00248)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0649)	4	355	+		Colorectal(325;3.46e-05)|all_lung(284;0.000129)|Lung NSC(340;0.000259)|Renal(390;0.00121)|Breast(348;0.00345)|Ovarian(437;0.00503)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)	99			FHA.|Interaction with CDC5L, SF3B1 and MELK.		Q5TEJ2|Q5TEJ4|Q5TIF2|Q6PKF6|Q9UBH1|Q9UBZ0	Missense_Mutation	SNP	ENST00000311772.5	37	c.297T>G	CCDS311.1	.	.	.	.	.	.	.	.	.	.	T	15.58	2.875153	0.51695	.	.	ENSG00000117751	ENST00000311772;ENST00000434313	D	0.86432	-2.12	5.58	-0.625	0.11548	Forkhead-associated (FHA) domain (4);SMAD/FHA domain (1);	0.000000	0.85682	D	0.000000	T	0.81375	0.4809	L	0.35644	1.08	0.80722	D	1	B	0.27853	0.191	B	0.37015	0.239	T	0.72481	-0.4280	10	0.42905	T	0.14	-8.473	10.5611	0.45146	0.0:0.4927:0.0:0.5073	.	99	Q12972	PP1R8_HUMAN	M	99	ENSP00000311677:I99M	ENSP00000311677:I99M	I	+	3	3	PPP1R8	28040137	0.932000	0.31603	0.999000	0.59377	0.988000	0.76386	0.039000	0.13884	0.080000	0.16959	0.459000	0.35465	ATT		0.483	PPP1R8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010528.1	NM_014110		10	67	0	0	0	1	0	10	67					G	28167550	T	G	28167550	3	3	383	1	0	0	0	0	1	0	0	0	12377	1771	62	5	311	5	PPP1R8	1	28167550	Missense_Mutation	SNP	T	TCGA-V1-A9O9-01A-11D-A41K-08	4530481	28167550	221083071	3	18822											
C1orf103	55791	broad.mit.edu	37	chr1	111494472	111494472	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taggcatatttttggatcgcGtcccactaggatcgatggta	9	13	11	8	3	0	0	0	0	0	0	3	3	1	2	1	4	0	2	1	4	4	6	rs377597305		TCGA-V1-A9O9-01A-11D-A41K-08	TCGA-V1-A9O9-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcad0c26-dab3-4bf0-9ef6-a5be33131a61	8636a67d-a41b-4d6d-ad70-2f28e9aeda6e	g.chr1:111494472G>A	ENST00000369763.4	-	2	1424	c.1034C>T	c.(1033-1035)aCg>aTg	p.T345M	LRIF1_ENST00000485275.2_Intron|LRIF1_ENST00000494675.1_Intron|RP11-96K19.2_ENST00000440689.1_RNA	NM_018372.3	NP_060842.3	Q5T3J3	LRIF1_HUMAN	ligand dependent nuclear receptor interacting factor 1	345					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	actin cytoskeleton (GO:0015629)|nucleus (GO:0005634)				endometrium(2)|kidney(2)|large_intestine(7)|lung(12)|ovary(2)|skin(1)|urinary_tract(2)	28						TTTGGATCGCGTCCCACTAGG	0.353																																						ENST00000369763.4																			0				endometrium(2)|kidney(2)|large_intestine(7)|lung(12)|ovary(2)|skin(1)|urinary_tract(2)	28						c.(1033-1035)aCg>aTg		ligand dependent nuclear receptor interacting factor 1		G	,MET/THR	0,4406		0,0,2203	81	84	83		,1034	4.7	0.9	1		83	1,8599	1.2+/-3.3	0,1,4299	no	intron,missense	LRIF1	NM_001006945.1,NM_018372.3	,81	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,probably-damaging	,345/770	111494472	1,13005	2203	4300	6503	SO:0001583	missense	55791				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear matrix	protein binding	g.chr1:111494472G>A	AY190122	CCDS30800.1, CCDS41366.1	1p13.3	2011-04-15	2011-04-15	2011-04-15	ENSG00000121931	ENSG00000121931			30299	protein-coding gene	gene with protein product	"receptor interacting factor 1"	615354	"chromosome 1 open reading frame 103"	C1orf103		17455211	Standard	NM_018372		Approved	RIF1, FLJ11269	uc001eaa.3	Q5T3J3	OTTHUMG00000011913	ENST00000369763.4:c.1034C>T	1.37:g.111494472G>A	ENSP00000358778:p.Thr345Met					RP11-96K19.2_ENST00000440689.1_RNA|LRIF1_ENST00000485275.2_Intron|LRIF1_ENST00000494675.1_Intron	p.T345M	NM_018372.3	NP_060842.3	Q5T3J3	LRIF1_HUMAN			2	1424	-			345					Q86XS4|Q8N3B6|Q96HT4|Q9NUM5|Q9NV32	Missense_Mutation	SNP	ENST00000369763.4	37	c.1034C>T	CCDS30800.1	.	.	.	.	.	.	.	.	.	.	G	11.08	1.532950	0.27387	0.0	1.16E-4	ENSG00000121931	ENST00000369763	T	0.38887	1.11	5.7	4.74	0.60224	.	0.459218	0.21624	N	0.071581	T	0.33294	0.0858	L	0.27053	0.805	0.80722	D	1	D	0.69078	0.997	P	0.54100	0.742	T	0.17623	-1.0363	10	0.87932	D	0	0.0321	13.8861	0.63710	0.0:0.1537:0.8462:0.0	.	345	Q5T3J3	LRIF1_HUMAN	M	345	ENSP00000358778:T345M	ENSP00000358778:T345M	T	-	2	0	LRIF1	111295995	0.784000	0.28713	0.881000	0.34555	0.162000	0.22319	1.241000	0.32743	2.705000	0.92388	0.591000	0.81541	ACG		0.353	LRIF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000032932.2	NM_018372		22	64	0	0	0	1	0	22	64					A	111494472	G	A	111494472	3	1	383	1	0	0	0	0	1	0	0	0	1977	1145	40	1	1287	1	C1orf103	1	111494472	Missense_Mutation	SNP	G	TCGA-V1-A9O9-01A-11D-A41K-08	83326922	111494472	137756149	4	18823											
KIF14	9928	broad.mit.edu	37	chr1	200587123	200587123	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cccaacactttgatatccaaCttgctctgagtaggtttcgt	9	14	7	11	1	1	2	0	2	1	0	3	2	2	2	2	1	3	3	2	1	4	5			TCGA-V1-A9O9-01A-11D-A41K-08	TCGA-V1-A9O9-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcad0c26-dab3-4bf0-9ef6-a5be33131a61	8636a67d-a41b-4d6d-ad70-2f28e9aeda6e	g.chr1:200587123C>T	ENST00000367350.4	-	2	1167	c.729G>A	c.(727-729)aaG>aaA	p.K243K		NM_014875.2	NP_055690.1	Q15058	KIF14_HUMAN	kinesin family member 14	243	Required for PRC1-binding.				ATP catabolic process (GO:0006200)|cytoskeleton-dependent intracellular transport (GO:0030705)|establishment of protein localization (GO:0045184)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|negative regulation of integrin activation (GO:0033624)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of Rap protein signal transduction (GO:0032487)|substrate adhesion-dependent cell spreading (GO:0034446)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|PDZ domain binding (GO:0030165)			NS(1)|breast(5)|central_nervous_system(2)|endometrium(8)|kidney(8)|large_intestine(15)|lung(13)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	61						TGATATCCAACTTGCTCTGAG	0.378																																						ENST00000367350.4																			0				NS(1)|breast(5)|central_nervous_system(2)|endometrium(8)|kidney(8)|large_intestine(15)|lung(13)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	61						c.(727-729)aaG>aaA		kinesin family member 14							171	176	174					1																	200587123		2203	4300	6503	SO:0001819	synonymous_variant	9928				microtubule-based movement	cytoplasm|microtubule|nucleus|spindle	ATP binding|microtubule motor activity|protein binding	g.chr1:200587123C>T	D26361	CCDS30963.1	1q32.1	2008-03-03			ENSG00000118193	ENSG00000118193		"Kinesins"	19181	protein-coding gene	gene with protein product		611279				7584044	Standard	NM_014875		Approved	KIAA0042	uc010ppk.1	Q15058	OTTHUMG00000035723	ENST00000367350.4:c.729G>A	1.37:g.200587123C>T							p.K243K	NM_014875.2	NP_055690.1	Q15058	KIF14_HUMAN			2	1167	-			243			Required for PRC1-binding.		Q14CI8|Q4G0A5|Q5T1W3	Silent	SNP	ENST00000367350.4	37	c.729G>A	CCDS30963.1																																																																																				0.378	KIF14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086878.1	NM_014875		6	162	0	0	0	1	0	6	162					T	200587123	C	T	200587123	2	4	383	1	0	0	0	0	0	0	0	1	8276	564	20	3		3	KIF14	1	200587123	Silent	SNP	C	TCGA-V1-A9O9-01A-11D-A41K-08	89092651	200587123	48663498	5	18824											
C4BPA	722	broad.mit.edu	37	chr1	207297289	207297289	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttcttaattggctcaaccActagtcgttgtgaagtccaa	10	15	7	9	1	2	1	1	1	1	0	4	1	3	1	2	1	1	2	2	1	5	6	rs146506452		TCGA-V1-A9O9-01A-11D-A41K-08	TCGA-V1-A9O9-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcad0c26-dab3-4bf0-9ef6-a5be33131a61	8636a67d-a41b-4d6d-ad70-2f28e9aeda6e	g.chr1:207297289A>G	ENST00000367070.3	+	5	645	c.451A>G	c.(451-453)Act>Gct	p.T151A		NM_000715.3	NP_000706.1	P04003	C4BPA_HUMAN	complement component 4 binding protein, alpha	151	Sushi 2. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)|negative regulation of complement activation, classical pathway (GO:0045959)|positive regulation of protein catabolic process (GO:0045732)|regulation of complement activation (GO:0030449)|regulation of opsonization (GO:1903027)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|other organism cell (GO:0044216)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)|skin(1)|urinary_tract(2)	28						TGGCTCAACCACTAGTCGTTG	0.353																																						ENST00000367070.3																			0				breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)|skin(1)|urinary_tract(2)	28						c.(451-453)Act>Gct		complement component 4 binding protein, alpha		A	ALA/THR	1,4405	2.1+/-5.4	0,1,2202	67	65	66		451	4.8	0	1	dbSNP_134	66	0,8600		0,0,4300	no	missense	C4BPA	NM_000715.3	58	0,1,6502	GG,GA,AA		0.0,0.0227,0.0077	probably-damaging	151/598	207297289	1,13005	2203	4300	6503	SO:0001583	missense	722				complement activation, classical pathway|innate immune response	extracellular region	protein binding	g.chr1:207297289A>G	M31452	CCDS1477.1	1q32	2010-09-24	2001-11-28		ENSG00000123838	ENSG00000123838			1325	protein-coding gene	gene with protein product		120830	"complement component 4-binding protein, alpha"	C4BP			Standard	XM_005273251		Approved		uc001hfo.3	P04003	OTTHUMG00000036173	ENST00000367070.3:c.451A>G	1.37:g.207297289A>G	ENSP00000356037:p.Thr151Ala						p.T151A	NM_000715.3	NP_000706.1	P04003	C4BPA_HUMAN			5	645	+			151			Sushi 2.		Q5VVQ8	Missense_Mutation	SNP	ENST00000367070.3	37	c.451A>G	CCDS1477.1	.	.	.	.	.	.	.	.	.	.	A	18.37	3.609298	0.66558	2.27E-4	0.0	ENSG00000123838	ENST00000367070;ENST00000421786	T;T	0.65916	-0.18;1.39	5.9	4.76	0.60689	Complement control module (2);Sushi/SCR/CCP (3);	0.093407	0.47455	D	0.000233	T	0.73473	0.3591	M	0.74389	2.26	0.09310	N	1	D	0.61080	0.989	D	0.66716	0.946	T	0.63919	-0.6528	10	0.23302	T	0.38	.	9.3047	0.37867	0.8401:0.0:0.0:0.1599	.	151	P04003	C4BPA_HUMAN	A	151	ENSP00000356037:T151A;ENSP00000403386:T151A	ENSP00000356037:T151A	T	+	1	0	C4BPA	205363912	0.036000	0.19791	0.003000	0.11579	0.075000	0.17131	2.865000	0.48412	1.028000	0.39785	0.528000	0.53228	ACT		0.353	C4BPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088089.3			3	26	0	0	0	1	0	3	26					G	207297289	A	G	207297289	3	3	383	1	0	0	0	0	1	0	0	0	2249	159	6	4	465	4	C4BPA	1	207297289	Missense_Mutation	SNP	A	TCGA-V1-A9O9-01A-11D-A41K-08	6710166	207297289	41953332	6	18825											
KIDINS220	57498	broad.mit.edu	37	chr2	8910799	8910810	+	Splice_Site	DEL	CCTTTCGTAGAT	CCTTTCGTAGAT	-																															caaagaggtcacaaaaggtaCctttcgtagatggtttttaa																										TCGA-V1-A9O9-01A-11D-A41K-08	TCGA-V1-A9O9-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcad0c26-dab3-4bf0-9ef6-a5be33131a61	8636a67d-a41b-4d6d-ad70-2f28e9aeda6e	g.chr2:8910799_8910810delCCTTTCGTAGAT	ENST00000256707.3	-	22	3182_3193	c.3001_3012delATCTACGAAAGG	c.(3001-3012)atctacgaaaggdel	p.IYER1001del	KIDINS220_ENST00000427284.1_Splice_Site_p.IYER1001del|KIDINS220_ENST00000319688.5_Splice_Site_p.IYER1002del|KIDINS220_ENST00000418530.1_Splice_Site_p.IYER959del|KIDINS220_ENST00000473731.1_Splice_Site_p.IYER1001del	NM_020738.2	NP_065789.1	Q9ULH0	KDIS_HUMAN	kinase D-interacting substrate, 220kDa	1001					activation of MAPKK activity (GO:0000186)|cellular response to nerve growth factor stimulus (GO:1990090)|cytoplasmic transport (GO:0016482)|dendrite morphogenesis (GO:0048813)|in utero embryonic development (GO:0001701)|nerve growth factor signaling pathway (GO:0038180)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of neuron projection development (GO:0010976)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|membrane (GO:0016020)|protein complex (GO:0043234)	PDZ domain binding (GO:0030165)	p.E1003K(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(25)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	60	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					ACAAAAGGTACCTTTCGTAGATGGTTTTTAAT	0.325																																						ENST00000256707.3																			1	Substitution - Missense(1)	p.E1003K(1)	large_intestine(1)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(25)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	60						c.e22+1		kinase D-interacting substrate, 220kDa																																				SO:0001630	splice_region_variant	57498				activation of MAPKK activity|nerve growth factor receptor signaling pathway	cytosol|integral to membrane		g.chr2:8910799_8910810delCCTTTCGTAGAT	AK025528	CCDS42650.1	2p24	2013-01-10			ENSG00000134313	ENSG00000134313		"Ankyrin repeat domain containing"	29508	protein-coding gene	gene with protein product	"ankyrin repeat-rich membrane-spanning protein"	615759				10998417, 10574462	Standard	NM_020738		Approved	ARMS	uc002qzc.2	Q9ULH0	OTTHUMG00000151658	ENST00000256707.3:c.3011+1ATCTACGAAAGG>-	2.37:g.8910799_8910810delCCTTTCGTAGAT						KIDINS220_ENST00000473731.1_Splice_Site_p.1001_splice|KIDINS220_ENST00000427284.1_Splice_Site_p.1001_splice|KIDINS220_ENST00000418530.1_Splice_Site_p.959_splice|KIDINS220_ENST00000319688.5_Splice_Site_p.1002_splice	p.1001_splice	NM_020738.2	NP_065789.1	Q9ULH0	KDIS_HUMAN			22	3182_3193	-	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		1001					A1L4N4|Q4VC08|Q6MZU2|Q9H889|Q9H9E4|Q9NT37|Q9UF42	Splice_Site	DEL	ENST00000256707.3	37	c.3011_splice	CCDS42650.1																																																																																				0.325	KIDINS220-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323408.2	NM_020738	In_Frame_Del	7	34						7	34	---	---	---	---	-	8910810	CCTTTCGTAGAT	-	8910799	8	5	383	1	0	1	0	1	0	0	1	0	8271	521	18	0	2339	0	KIDINS220	2	8910799	Splice_Site	DEL	CCTTTCGTAGAT	TCGA-V1-A9O9-01A-11D-A41K-08		8910799	234288574	7	18826											
UBE2F	140739	broad.mit.edu	37	chr2	238940869	238940869	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cttttttatttcaggatgtcGtttggggattaaactctttg	7	20	9	5	1	2	0	1	0	1	0	3	2	2	2	0	3	1	1	0	3	3	7			TCGA-V1-A9O9-01A-11D-A41K-08	TCGA-V1-A9O9-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcad0c26-dab3-4bf0-9ef6-a5be33131a61	8636a67d-a41b-4d6d-ad70-2f28e9aeda6e	g.chr2:238940869G>A	ENST00000272930.4	+	8	612	c.418G>A	c.(418-420)Gtt>Att	p.V140I	UBE2F_ENST00000409633.1_Missense_Mutation_p.V140I|UBE2F_ENST00000409953.1_Missense_Mutation_p.V116I|UBE2F_ENST00000409332.1_Missense_Mutation_p.V118I|UBE2F-SCLY_ENST00000449191.1_Intron|UBE2F_ENST00000414443.1_Missense_Mutation_p.V108I	NM_001278305.1|NM_080678.2	NP_001265234.1|NP_542409.1	Q969M7	UBE2F_HUMAN	ubiquitin-conjugating enzyme E2F (putative)	140					protein neddylation (GO:0045116)		ATP binding (GO:0005524)|NEDD8 ligase activity (GO:0019788)			endometrium(1)|large_intestine(1)	2		Breast(86;0.0042)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)		Epithelial(121;6.7e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|Kidney(56;3.53e-09)|KIRC - Kidney renal clear cell carcinoma(57;9.79e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000136)|Lung(119;0.0126)|LUSC - Lung squamous cell carcinoma(224;0.0301)		TCAGGATGTCGTTTGGGGATT	0.338																																						ENST00000272930.4																			0				endometrium(1)|large_intestine(1)	2						c.(418-420)Gtt>Att		ubiquitin-conjugating enzyme E2F (putative)							125	115	118					2																	238940869		2203	4299	6502	SO:0001583	missense	140739				protein neddylation		ATP binding|NEDD8 ligase activity|protein binding	g.chr2:238940869G>A	BC010549	CCDS2523.1, CCDS63175.1, CCDS63176.1, CCDS63177.1	2q37.3	2008-02-05	2005-12-15		ENSG00000184182	ENSG00000184182		"Ubiquitin-conjugating enzymes E2"	12480	protein-coding gene	gene with protein product	"NEDD8 conjugating enzyme"					12477932	Standard	NM_080678		Approved	NCE2	uc031rrz.1	Q969M7	OTTHUMG00000133341	ENST00000272930.4:c.418G>A	2.37:g.238940869G>A	ENSP00000272930:p.Val140Ile					UBE2F_ENST00000414443.1_Missense_Mutation_p.V108I|UBE2F_ENST00000409633.1_Missense_Mutation_p.V140I|UBE2F_ENST00000409332.1_Missense_Mutation_p.V118I|UBE2F-SCLY_ENST00000449191.1_Intron|UBE2F_ENST00000409953.1_Missense_Mutation_p.V116I	p.V140I	NM_001278305.1|NM_080678.2	NP_001265234.1|NP_542409.1	Q969M7	UBE2F_HUMAN		Epithelial(121;6.7e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|Kidney(56;3.53e-09)|KIRC - Kidney renal clear cell carcinoma(57;9.79e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000136)|Lung(119;0.0126)|LUSC - Lung squamous cell carcinoma(224;0.0301)	8	612	+		Breast(86;0.0042)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)	140					A8K1Z8|B4DDT9|B4DFI1|B4DMK3|B4DZU2|B8ZZG2|C9J212|H9KVB9	Missense_Mutation	SNP	ENST00000272930.4	37	c.418G>A	CCDS2523.1	.	.	.	.	.	.	.	.	.	.	G	10.11	1.260616	0.23051	.	.	ENSG00000184182	ENST00000272930;ENST00000416292;ENST00000409633;ENST00000414443;ENST00000409953;ENST00000409332;ENST00000434655;ENST00000434137	T;T;T;T;T;T;T;T	0.70631	-0.5;-0.5;-0.5;-0.5;-0.5;-0.5;-0.5;-0.5	4.87	4.87	0.63330	Ubiquitin-conjugating enzyme, E2 (2);Ubiquitin-conjugating enzyme/RWD-like (2);	0.063698	0.64402	N	0.000007	T	0.50514	0.1620	N	0.05554	-0.025	0.44719	D	0.997713	B;B	0.17852	0.024;0.0	B;B	0.16289	0.015;0.004	T	0.47156	-0.9139	10	0.30854	T	0.27	-20.783	13.8838	0.63696	0.0:0.0:1.0:0.0	.	108;140	Q969M7-3;Q969M7	.;UBE2F_HUMAN	I	140;108;140;108;116;118;140;130	ENSP00000272930:V140I;ENSP00000390813:V108I;ENSP00000387299:V140I;ENSP00000399183:V108I;ENSP00000386680:V116I;ENSP00000387060:V118I;ENSP00000406113:V140I;ENSP00000414619:V130I	ENSP00000272930:V140I	V	+	1	0	UBE2F	238605608	1.000000	0.71417	0.998000	0.56505	0.993000	0.82548	7.227000	0.78070	2.419000	0.82065	0.655000	0.94253	GTT		0.338	UBE2F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257171.2	NM_080678		14	29	0	0	0	1	0	14	29					A	238940869	G	A	238940869	3	1	383	1	0	0	0	0	1	0	0	0	16852	1145	40	1	444	1	UBE2F	2	238940869	Missense_Mutation	SNP	G	TCGA-V1-A9O9-01A-11D-A41K-08	230030070	238940869	4258504	8	18827											
ARPP21	10777	broad.mit.edu	37	chr3	35785414	35785414	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atggccccggttcagtacaaCgctcagaggagtcaacagat	12	7	11	11	2	3	2	3	0	0	2	3	3	3	3	2	3	3	3	2	3	3	2	rs550779254		TCGA-V1-A9O9-01A-11D-A41K-08	TCGA-V1-A9O9-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcad0c26-dab3-4bf0-9ef6-a5be33131a61	8636a67d-a41b-4d6d-ad70-2f28e9aeda6e	g.chr3:35785414C>T	ENST00000187397.4	+	18	2445	c.1989C>T	c.(1987-1989)aaC>aaT	p.N663N	MIR128-2_ENST00000384893.1_RNA|ARPP21_ENST00000444190.1_Silent_p.N644N|ARPP21_ENST00000417925.1_Silent_p.N664N|ARPP21_ENST00000458225.1_Silent_p.N664N|ARPP21_ENST00000337271.5_Silent_p.N644N	NM_016300.4	NP_057384.2	Q9UBL0	ARP21_HUMAN	cAMP-regulated phosphoprotein, 21kDa	663	Gln-rich.				cellular response to heat (GO:0034605)	cytoplasm (GO:0005737)	nucleic acid binding (GO:0003676)	p.N663N(1)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	61						TTCAGTACAACGCTCAGAGGA	0.502																																						ENST00000187397.4																			1	Substitution - coding silent(1)	p.N663N(1)	large_intestine(1)	cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	61						c.(1987-1989)aaC>aaT		cAMP-regulated phosphoprotein, 21kDa							120	114	116					3																	35785414		2203	4300	6503	SO:0001819	synonymous_variant	10777					cytoplasm	nucleic acid binding	g.chr3:35785414C>T	AA733082	CCDS2661.1, CCDS43063.1, CCDS58823.1, CCDS58824.1	3p24.3	2010-08-12			ENSG00000172995	ENSG00000172995			16968	protein-coding gene	gene with protein product	"R3H domain containing 3"	605488				8120638	Standard	NM_198399		Approved	ARPP-21, TARPP, R3HDM3	uc011axy.2	Q9UBL0	OTTHUMG00000130795	ENST00000187397.4:c.1989C>T	3.37:g.35785414C>T						ARPP21_ENST00000337271.5_Silent_p.N644N|ARPP21_ENST00000444190.1_Silent_p.N644N|ARPP21_ENST00000458225.1_Silent_p.N664N|ARPP21_ENST00000417925.1_Silent_p.N664N	p.N663N	NM_016300.4	NP_057384.2	Q9UBL0	ARP21_HUMAN			18	2445	+			663			Gln-rich.		B4DG96|Q49AK3|Q49AS6|Q4G0V4|Q6NYC3|Q86V31|Q9UF93	Silent	SNP	ENST00000187397.4	37	c.1989C>T	CCDS2661.1																																																																																				0.502	ARPP21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253334.2	NM_198399		13	73	0	0	0	1	0	13	73					T	35785414	C	T	35785414	2	4	383	1	0	0	0	0	0	0	0	1	978	535	19	1		1	ARPP21	3	35785414	Silent	SNP	C	TCGA-V1-A9O9-01A-11D-A41K-08		35785414	162237016	9	18828											
SCN5A	6331	broad.mit.edu	37	chr3	38595989	38595989	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatcagaaacatgatggtgaCgtcaaaggcctgcttggtca	12	9	12	8	1	3	3	3	2	0	1	3	4	3	3	1	3	2	1	1	3	2	1	rs199473618	byFrequency	TCGA-V1-A9O9-01A-11D-A41K-08	TCGA-V1-A9O9-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcad0c26-dab3-4bf0-9ef6-a5be33131a61	8636a67d-a41b-4d6d-ad70-2f28e9aeda6e	g.chr3:38595989C>T	ENST00000333535.4	-	27	4743	c.4594G>A	c.(4594-4596)Gtc>Atc	p.V1532I	SCN5A_ENST00000450102.2_Missense_Mutation_p.V1478I|SCN5A_ENST00000425664.1_Missense_Mutation_p.V1514I|SCN5A_ENST00000451551.2_Missense_Mutation_p.V1478I|SCN5A_ENST00000413689.1_Missense_Mutation_p.V1532I|SCN5A_ENST00000423572.2_Missense_Mutation_p.V1531I|SCN5A_ENST00000464652.1_5'UTR|SCN5A_ENST00000455624.2_Missense_Mutation_p.V1531I|SCN5A_ENST00000449557.2_Missense_Mutation_p.V1478I|SCN5A_ENST00000443581.1_Missense_Mutation_p.V1531I|SCN5A_ENST00000414099.2_Missense_Mutation_p.V1514I			Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	1532					AV node cell to bundle of His cell communication (GO:0086067)|brainstem development (GO:0003360)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cardiac muscle cell action potential involved in contraction (GO:0086002)|cardiac muscle contraction (GO:0060048)|cardiac ventricle development (GO:0003231)|cellular response to calcium ion (GO:0071277)|cerebellum development (GO:0021549)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane depolarization during SA node cell action potential (GO:0086046)|neuronal action potential (GO:0019228)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of action potential (GO:0045760)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of sodium ion transport (GO:0010765)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of sodium ion transmembrane transport (GO:1902305)|regulation of ventricular cardiac muscle cell membrane depolarization (GO:0060373)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|telencephalon development (GO:0021537)|ventricular cardiac muscle cell action potential (GO:0086005)	caveola (GO:0005901)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	ankyrin binding (GO:0030506)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|fibroblast growth factor binding (GO:0017134)|ion channel binding (GO:0044325)|nitric-oxide synthase binding (GO:0050998)|protein kinase binding (GO:0019901)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)|voltage-gated sodium channel activity (GO:0005248)|voltage-gated sodium channel activity involved in cardiac muscle cell action potential (GO:0086006)			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Ajmaline(DB01426)|Aprindine(DB01429)|Benzonatate(DB00868)|Carbamazepine(DB00564)|Cinchocaine(DB00527)|Cocaine(DB00907)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lidocaine(DB00281)|Mexiletine(DB00379)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine barbiturate(DB01346)|Quinidine(DB00908)|Ranolazine(DB00243)|Riluzole(DB00740)|Tocainide(DB01056)|Valproic Acid(DB00313)|Verapamil(DB00661)|Zonisamide(DB00909)	ATGATGGTGACGTCAAAGGCC	0.483													C|||	3	0.000599042	0	0	5008	,	,		21884	0.001		0	False		,,,				2504	0.002					ENST00000413689.1																			0				NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107						c.(4594-4596)Gtc>Atc		sodium channel, voltage-gated, type V, alpha subunit	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	C	ILE/VAL,ILE/VAL,ILE/VAL,ILE/VAL,ILE/VAL,ILE/VAL	7,4079		0,7,2036	144	145	145		4591,4594,4540,4591,4432,4594	3.7	0.9	3		145	0,8396		0,0,4198	yes	missense,missense,missense,missense,missense,missense	SCN5A	NM_000335.4,NM_001099404.1,NM_001099405.1,NM_001160160.1,NM_001160161.1,NM_198056.2	29,29,29,29,29,29	0,7,6234	TT,TC,CC		0.0,0.1713,0.0561	benign,benign,benign,benign,benign,benign	1531/2016,1532/2017,1514/1999,1531/1984,1478/1963,1532/2017	38595989	7,12475	2043	4198	6241	SO:0001583	missense	6331				blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity	g.chr3:38595989C>T	AJ310893	CCDS46796.1, CCDS46797.1, CCDS46798.1, CCDS46799.1, CCDS54569.1, CCDS54570.1	3p21	2014-09-17	2007-01-23		ENSG00000183873	ENSG00000183873		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10593	protein-coding gene	gene with protein product	"long QT syndrome 3"	600163	"sodium channel, voltage-gated, type V, alpha (long QT syndrome 3)"	CMD1E		7842012, 15466643, 16382098	Standard	NM_198056		Approved	Nav1.5, LQT3, HB1, HBBD, PFHB1, IVF, HB2, HH1, SSS1, CDCD2, CMPD2, ICCD	uc021wvl.1	Q14524	OTTHUMG00000156166	ENST00000333535.4:c.4594G>A	3.37:g.38595989C>T	ENSP00000328968:p.Val1532Ile					SCN5A_ENST00000455624.2_Missense_Mutation_p.V1531I|SCN5A_ENST00000451551.2_Missense_Mutation_p.V1478I|SCN5A_ENST00000443581.1_Missense_Mutation_p.V1531I|SCN5A_ENST00000423572.2_Missense_Mutation_p.V1531I|SCN5A_ENST00000464652.1_5'UTR|SCN5A_ENST00000425664.1_Missense_Mutation_p.V1514I|SCN5A_ENST00000414099.2_Missense_Mutation_p.V1514I|SCN5A_ENST00000333535.4_Missense_Mutation_p.V1532I|SCN5A_ENST00000450102.2_Missense_Mutation_p.V1478I|SCN5A_ENST00000449557.2_Missense_Mutation_p.V1478I	p.V1532I	NM_001099404.1|NM_001160160.1	NP_001092874.1|NP_001153632.1	Q14524	SCN5A_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	27	4787	-	Medulloblastoma(35;0.163)		1532					A5H1P8|A6N922|A6N923|B2RTU0|E7ET19|E9PEF3|E9PEK2|E9PFW7|Q59H93|Q75RX9|Q75RY0|Q86UR3|Q8IZC9|Q96J69	Missense_Mutation	SNP	ENST00000333535.4	37	c.4594G>A	CCDS46796.1	.	.	.	.	.	.	.	.	.	.	C	9.762	1.170236	0.21621	0.001713	0.0	ENSG00000183873	ENST00000414099;ENST00000423572;ENST00000413689;ENST00000451551;ENST00000443581;ENST00000425664;ENST00000333535;ENST00000455624;ENST00000450102;ENST00000449557	D;D;D;D;D;D;D;D;D;D	0.97328	-4.34;-4.34;-4.34;-4.34;-4.34;-4.34;-4.34;-4.34;-4.34;-4.34	3.69	3.69	0.42338	.	0.063063	0.64402	D	0.000006	D	0.89480	0.6727	N	0.00166	-1.94	0.41734	D	0.989574	B;D;P;P;P;B	0.89917	0.391;1.0;0.772;0.739;0.693;0.088	B;D;B;B;B;B	0.81914	0.07;0.995;0.168;0.07;0.184;0.013	D	0.86197	0.1616	10	0.02654	T	1	.	9.4669	0.38817	0.0:0.9023:0.0:0.0977	.	1478;1531;1514;1532;1531;1532	E9PEF3;E9PHB6;E9PG18;Q14524;Q14524-2;E9PEK2	.;.;.;SCN5A_HUMAN;.;.	I	1514;1531;1532;1478;1531;1514;1532;1531;1478;1478	ENSP00000398962:V1514I;ENSP00000398266:V1531I;ENSP00000410257:V1532I;ENSP00000388797:V1478I;ENSP00000397915:V1531I;ENSP00000416634:V1514I;ENSP00000328968:V1532I;ENSP00000399524:V1531I;ENSP00000403355:V1478I;ENSP00000413996:V1478I	ENSP00000328968:V1532I	V	-	1	0	SCN5A	38570993	0.996000	0.38824	0.943000	0.38184	0.910000	0.53928	3.017000	0.49615	1.903000	0.55091	0.462000	0.41574	GTC		0.483	SCN5A-014	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000377958.1	NM_198056		7	60	0	0	0	1	0	7	60					T	38595989	C	T	38595989	3	4	383	1	0	0	0	0	1	0	0	0	13922	536	19	1	1464	1	SCN5A	3	38595989	Missense_Mutation	SNP	C	TCGA-V1-A9O9-01A-11D-A41K-08	2810575	38595989	159426441	10	18829											
CELSR3	1951	broad.mit.edu	37	chr3	48685794	48685794	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cctccaggtgcctcaccagtCccgcgctgcctggggagccc	4	6	12	19	2	1	0	1	0	0	0	3	1	3	1	7	3	3	1	7	3	0	0			TCGA-V1-A9O9-01A-11D-A41K-08	TCGA-V1-A9O9-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcad0c26-dab3-4bf0-9ef6-a5be33131a61	8636a67d-a41b-4d6d-ad70-2f28e9aeda6e	g.chr3:48685794C>A	ENST00000164024.4	-	19	7158	c.6878G>T	c.(6877-6879)gGa>gTa	p.G2293V	CELSR3_ENST00000544264.1_Missense_Mutation_p.G2298V	NM_001407.2	NP_001398.2	Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	2293					axonal fasciculation (GO:0007413)|cilium assembly (GO:0042384)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of protein localization (GO:0032880)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		CCTCACCAGTCCCGCGCTGCC	0.642																																						ENST00000544264.1																			0				NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83						c.(6892-6894)gGa>gTa		cadherin, EGF LAG seven-pass G-type receptor 3							39	38	38					3																	48685794		2198	4296	6494	SO:0001583	missense	1951				homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding	g.chr3:48685794C>A	AF231023	CCDS2775.1	3p21.31	2014-08-08	2013-02-18		ENSG00000008300	ENSG00000008300		"Cadherins / Major cadherins", "-", "GPCR / Class B : Orphans"	3230	protein-coding gene	gene with protein product	"flamingo homolog 1 (Drosophila)"	604264	"cadherin EGF LAG seven-pass G-type receptor 3, flamingo (Drosophila) homolog"	EGFL1		9693030	Standard	NM_001407		Approved	MEGF2, HFMI1, FMI1, CDHF11	uc003cuf.1	Q9NYQ7	OTTHUMG00000133544	ENST00000164024.4:c.6878G>T	3.37:g.48685794C>A	ENSP00000164024:p.Gly2293Val					CELSR3_ENST00000164024.4_Missense_Mutation_p.G2293V	p.G2298V			Q9NYQ7	CELR3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)	20	7173	-			2293					O75092	Missense_Mutation	SNP	ENST00000164024.4	37	c.6893G>T	CCDS2775.1	.	.	.	.	.	.	.	.	.	.	C	7.509	0.654190	0.14580	.	.	ENSG00000008300	ENST00000164024;ENST00000544264	T;T	0.09538	2.97;2.97	5.04	5.04	0.67666	Domain of unknown function DUF3497 (1);	.	.	.	.	T	0.17280	0.0415	L	0.57536	1.79	0.58432	D	0.999993	B;P	0.47841	0.254;0.901	B;P	0.46172	0.139;0.506	T	0.06661	-1.0814	9	0.16896	T	0.51	.	18.3882	0.90473	0.0:1.0:0.0:0.0	.	2293;2363	Q9NYQ7;Q5Y190	CELR3_HUMAN;.	V	2293;2298	ENSP00000164024:G2293V;ENSP00000445694:G2298V	ENSP00000164024:G2293V	G	-	2	0	CELSR3	48660798	1.000000	0.71417	0.857000	0.33713	0.462000	0.32619	3.548000	0.53670	2.352000	0.79861	0.462000	0.41574	GGA		0.642	CELSR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257523.1	NM_001407		11	16	1	0	3.86212e-05	1	3.94429e-05	11	16					A	48685794	C	A	48685794	3	1	383	1	0	0	0	0	1	0	0	0	3223	855	30	5	3128	5	CELSR3	3	48685794	Missense_Mutation	SNP	C	TCGA-V1-A9O9-01A-11D-A41K-08	10089805	48685794	149336636	11	18830											
LAMB2	3913	broad.mit.edu	37	chr3	49162454	49162454	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctcacccgtatagcctgcccGgcagtggcacacaatctgct	8	8	9	16	2	2	0	1	0	1	0	2	0	2	0	3	2	3	4	3	2	3	2	rs372148651		TCGA-V1-A9O9-01A-11D-A41K-08	TCGA-V1-A9O9-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcad0c26-dab3-4bf0-9ef6-a5be33131a61	8636a67d-a41b-4d6d-ad70-2f28e9aeda6e	g.chr3:49162454G>A	ENST00000418109.1	-	21	3033	c.2869C>T	c.(2869-2871)Cgg>Tgg	p.R957W	LAMB2_ENST00000305544.4_Missense_Mutation_p.R957W|LAMB2_ENST00000464891.1_5'UTR	NM_002292.3	NP_002283.3	P55268	LAMB2_HUMAN	laminin, beta 2 (laminin S)	957	Laminin EGF-like 9. {ECO:0000255|PROSITE- ProRule:PRU00460}.				astrocyte development (GO:0014002)|axon extension involved in regeneration (GO:0048677)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|metanephric glomerular basement membrane development (GO:0072274)|metanephric glomerular visceral epithelial cell development (GO:0072249)|neuromuscular junction development (GO:0007528)|retina development in camera-type eye (GO:0060041)|Schwann cell development (GO:0014044)|visual perception (GO:0007601)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-11 complex (GO:0043260)|laminin-3 complex (GO:0005608)|synapse (GO:0045202)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|endometrium(15)|kidney(3)|large_intestine(6)|lung(21)|ovary(4)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		TAGCCTGCCCGGCAGTGGCAC	0.617																																						ENST00000418109.1																			0				NS(1)|breast(1)|endometrium(15)|kidney(3)|large_intestine(6)|lung(21)|ovary(4)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61						c.(2869-2871)Cgg>Tgg		laminin, beta 2 (laminin S)		G	TRP/ARG	0,4406		0,0,2203	62	69	67		2869	2.8	1	3		67	1,8599	1.2+/-3.3	0,1,4299	no	missense	LAMB2	NM_002292.3	101	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	957/1799	49162454	1,13005	2203	4300	6503	SO:0001583	missense	3913				cell adhesion	laminin-11 complex|laminin-3 complex	structural molecule activity	g.chr3:49162454G>A		CCDS2789.1	3p21.3-p21.2	2013-03-01			ENSG00000172037	ENSG00000172037		"Laminins"	6487	protein-coding gene	gene with protein product	"laminin S"	150325		LAMS		2922051, 10393422	Standard	NM_002292		Approved		uc003cwe.3	P55268	OTTHUMG00000156807	ENST00000418109.1:c.2869C>T	3.37:g.49162454G>A	ENSP00000388325:p.Arg957Trp					LAMB2_ENST00000464891.1_5'UTR|LAMB2_ENST00000305544.4_Missense_Mutation_p.R957W	p.R957W	NM_002292.3	NP_002283.3	P55268	LAMB2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	21	3033	-			957			Laminin EGF-like 9.		Q16321	Missense_Mutation	SNP	ENST00000418109.1	37	c.2869C>T	CCDS2789.1	.	.	.	.	.	.	.	.	.	.	G	15.19	2.760549	0.49468	0.0	1.16E-4	ENSG00000172037	ENST00000418109;ENST00000305544	T;T	0.63580	-0.05;-0.05	5.74	2.81	0.32909	EGF-like, laminin (4);EGF-like region, conserved site (1);	0.686963	0.14554	N	0.312507	T	0.60547	0.2277	L	0.52011	1.625	0.25126	N	0.990604	D	0.58620	0.983	P	0.47376	0.545	T	0.52749	-0.8534	10	0.72032	D	0.01	.	10.1593	0.42842	0.0728:0.0:0.5231:0.4041	.	957	P55268	LAMB2_HUMAN	W	957	ENSP00000388325:R957W;ENSP00000307156:R957W	ENSP00000307156:R957W	R	-	1	2	LAMB2	49137458	0.182000	0.23173	0.960000	0.40013	0.705000	0.40729	0.926000	0.28804	0.278000	0.22164	-0.186000	0.12905	CGG		0.617	LAMB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345939.1	NM_002292		3	60	0	0	0	1	0	3	60					A	49162454	G	A	49162454	3	1	383	1	0	0	0	0	1	0	0	0	8611	1115	39	2	2579	2	LAMB2	3	49162454	Missense_Mutation	SNP	G	TCGA-V1-A9O9-01A-11D-A41K-08	476660	49162454	148859976	12	18831											
OSBPL11	114885	broad.mit.edu	37	chr3	125286305	125286305	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atatgaaagcagtcatttaaGcagttcatagttgccatgga	14	12	9	6	0	2	1	2	1	0	0	2	2	2	2	1	1	3	4	1	1	4	6			TCGA-V1-A9O9-01A-11D-A41K-08	TCGA-V1-A9O9-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcad0c26-dab3-4bf0-9ef6-a5be33131a61	8636a67d-a41b-4d6d-ad70-2f28e9aeda6e	g.chr3:125286305G>C	ENST00000296220.5	-	6	1090	c.801C>G	c.(799-801)tgC>tgG	p.C267W		NM_022776.4	NP_073613.2	Q9BXB4	OSB11_HUMAN	oxysterol binding protein-like 11	267					fat cell differentiation (GO:0045444)|lipid transport (GO:0006869)|positive regulation of sequestering of triglyceride (GO:0010890)	endosome (GO:0005768)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	lipid binding (GO:0008289)			NS(1)|breast(1)|cervix(1)|kidney(2)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(1)	27						AGTCATTTAAGCAGTTCATAG	0.418																																						ENST00000296220.5																			0				NS(1)|breast(1)|cervix(1)|kidney(2)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(1)	27						c.(799-801)tgC>tgG		oxysterol binding protein-like 11							227	209	215					3																	125286305		2203	4300	6503	SO:0001583	missense	114885				lipid transport		lipid binding	g.chr3:125286305G>C	AF392454	CCDS3033.1	3q21	2013-01-10			ENSG00000144909	ENSG00000144909		"Oxysterol binding proteins", "Pleckstrin homology (PH) domain containing"	16397	protein-coding gene	gene with protein product		606739					Standard	NM_022776		Approved	ORP-11, ORP11, FLJ13012, FLJ13164	uc003eic.3	Q9BXB4	OTTHUMG00000159571	ENST00000296220.5:c.801C>G	3.37:g.125286305G>C	ENSP00000296220:p.Cys267Trp						p.C267W	NM_022776.4	NP_073613.2	Q9BXB4	OSB11_HUMAN			6	1090	-			267					A8K9I7	Missense_Mutation	SNP	ENST00000296220.5	37	c.801C>G	CCDS3033.1	.	.	.	.	.	.	.	.	.	.	G	17.25	3.340888	0.60963	.	.	ENSG00000144909	ENST00000296220	T	0.47177	0.85	4.68	3.72	0.42706	.	0.232399	0.44688	D	0.000434	T	0.67268	0.2875	M	0.79123	2.44	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	T	0.72043	-0.4409	10	0.72032	D	0.01	-5.0856	13.3846	0.60789	0.0883:0.0:0.9117:0.0	.	267	Q9BXB4	OSB11_HUMAN	W	267	ENSP00000296220:C267W	ENSP00000296220:C267W	C	-	3	2	OSBPL11	126768995	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.982000	0.70532	2.415000	0.81967	0.655000	0.94253	TGC		0.418	OSBPL11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356295.1	NM_022776		8	87	0	0	0	1	0	8	87					C	125286305	G	C	125286305	3	2	383	1	0	0	0	0	1	0	0	0	11276	963	34	5	1474	5	OSBPL11	3	125286305	Missense_Mutation	SNP	G	TCGA-V1-A9O9-01A-11D-A41K-08	76123851	125286305	72736125	13	18832											
LGI2	55203	broad.mit.edu	37	chr4	25005538	25005538	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	atgatggggacctgggagcgGctggacaggatgagatgcga	10	6	19	6	2	0	2	0	2	0	1	0	8	0	6	1	6	2	1	1	6	0	0			TCGA-V1-A9O9-01A-11D-A41K-08	TCGA-V1-A9O9-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcad0c26-dab3-4bf0-9ef6-a5be33131a61	8636a67d-a41b-4d6d-ad70-2f28e9aeda6e	g.chr4:25005538G>A	ENST00000382114.4	-	8	1358	c.1173C>T	c.(1171-1173)agC>agT	p.S391S		NM_018176.3	NP_060646.2	Q8N0V4	LGI2_HUMAN	leucine-rich repeat LGI family, member 2	391						extracellular region (GO:0005576)				breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|prostate(1)|skin(3)|stomach(2)	33		Breast(46;0.173)				CCTGGGAGCGGCTGGACAGGA	0.507																																						ENST00000382114.4																			0				breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|prostate(1)|skin(3)|stomach(2)	33						c.(1171-1173)agC>agT		leucine-rich repeat LGI family, member 2							129	135	133					4																	25005538		2203	4300	6503	SO:0001819	synonymous_variant	55203					extracellular region		g.chr4:25005538G>A	AJ487516	CCDS3431.1	4p15.31	2008-07-28			ENSG00000153012	ENSG00000153012			18710	protein-coding gene	gene with protein product		608301				12023020, 16014869	Standard	NM_018176		Approved	KIAA1916, FLJ10675	uc003grf.2	Q8N0V4	OTTHUMG00000097749	ENST00000382114.4:c.1173C>T	4.37:g.25005538G>A							p.S391S	NM_018176.3	NP_060646.2	Q8N0V4	LGI2_HUMAN			8	1358	-		Breast(46;0.173)	391					Q3MIN2|Q8NDW6|Q96PX2|Q9NVK4	Silent	SNP	ENST00000382114.4	37	c.1173C>T	CCDS3431.1																																																																																				0.507	LGI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214978.1			4	110	0	0	0	1	0	4	110					A	25005538	G	A	25005538	2	1	383	1	0	0	0	0	0	0	0	1	8752	1194	42	3		3	LGI2	4	25005538	Silent	SNP	G	TCGA-V1-A9O9-01A-11D-A41K-08		25005538	166148738	14	18833											
ENAM	10117	broad.mit.edu	37	chr4	71508119	71508119	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atcatccatatcctaatataAgaaattttccttcaggaaga	16	13	4	8	0	2	2	2	0	0	2	5	3	5	3	3	1	0	0	3	1	6	7			TCGA-V1-A9O9-01A-11D-A41K-08	TCGA-V1-A9O9-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcad0c26-dab3-4bf0-9ef6-a5be33131a61	8636a67d-a41b-4d6d-ad70-2f28e9aeda6e	g.chr4:71508119A>C	ENST00000396073.3	+	9	1257	c.976A>C	c.(976-978)Aga>Cga	p.R326R	ENAM_ENST00000472903.1_Intron	NM_031889.2	NP_114095.2	Q9NRM1	ENAM_HUMAN	enamelin	326					amelogenesis (GO:0097186)|biomineral tissue development (GO:0031214)	proteinaceous extracellular matrix (GO:0005578)				haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2)	6			Lung(101;0.235)			TCCTAATATAAGAAATTTTCC	0.453																																						ENST00000396073.3																			0				haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2)	6						c.(976-978)Aga>Cga		enamelin							85	89	88					4																	71508119		2203	4299	6502	SO:0001819	synonymous_variant	10117				bone mineralization|odontogenesis	proteinaceous extracellular matrix	structural constituent of tooth enamel	g.chr4:71508119A>C	AF125373	CCDS3544.2	4q13.3	2008-02-05			ENSG00000132464	ENSG00000132464			3344	protein-coding gene	gene with protein product		606585	"amelogenesis imperfecta 2, hypocalcification (autosomal dominant)"	AIH2		11978766	Standard	NM_031889		Approved		uc011caw.1	Q9NRM1	OTTHUMG00000129914	ENST00000396073.3:c.976A>C	4.37:g.71508119A>C						ENAM_ENST00000472903.1_Intron	p.R326R	NM_031889.2	NP_114095.2	Q9NRM1	ENAM_HUMAN	Lung(101;0.235)		9	1257	+			326					Q17RI5|Q9H3D1	Silent	SNP	ENST00000396073.3	37	c.976A>C	CCDS3544.2																																																																																				0.453	ENAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252166.3	NM_031889		13	64	0	0	0	1	0	13	64					C	71508119	A	C	71508119	2	2	383	1	0	0	0	0	0	0	0	1	5112	64	3	5		5	ENAM	4	71508119	Silent	SNP	A	TCGA-V1-A9O9-01A-11D-A41K-08	46502581	71508119	119646157	15	18834											
SLC38A9	153129	broad.mit.edu	37	chr5	54993715	54993715	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggctcaaactggatattcatAggtccaggatctctttcatg	10	13	9	9	0	4	0	3	0	1	0	6	2	5	2	1	4	1	1	1	4	3	4			TCGA-V1-A9O9-01A-11D-A41K-08	TCGA-V1-A9O9-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcad0c26-dab3-4bf0-9ef6-a5be33131a61	8636a67d-a41b-4d6d-ad70-2f28e9aeda6e	g.chr5:54993715A>T	ENST00000396865.2	-	3	663	c.72T>A	c.(70-72)ccT>ccA	p.P24P	SLC38A9_ENST00000504880.1_5'UTR|SLC38A9_ENST00000416547.2_5'UTR|SLC38A9_ENST00000318672.3_Silent_p.P24P|SLC38A9_ENST00000539768.1_Silent_p.P24P	NM_173514.3	NP_775785.2	Q8NBW4	S38A9_HUMAN	solute carrier family 38, member 9	24					amino acid transport (GO:0006865)|sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)				endometrium(1)|kidney(1)|large_intestine(3)|lung(3)	8		Lung NSC(810;0.00122)|Prostate(74;0.0376)|Breast(144;0.181)				GGATATTCATAGGTCCAGGAT	0.353																																						ENST00000539768.1																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(3)	8						c.(70-72)ccT>ccA		solute carrier family 38, member 9							147	140	143					5																	54993715		2203	4300	6503	SO:0001819	synonymous_variant	153129				amino acid transport|sodium ion transport	integral to membrane		g.chr5:54993715A>T		CCDS3968.1, CCDS58947.1, CCDS58948.1, CCDS75243.1	5q11.2	2013-05-22			ENSG00000177058	ENSG00000177058		"Solute carriers"	26907	protein-coding gene	gene with protein product							Standard	NM_173514		Approved	FLJ90709	uc003jqf.3	Q8NBW4	OTTHUMG00000131189	ENST00000396865.2:c.72T>A	5.37:g.54993715A>T						SLC38A9_ENST00000318672.3_Silent_p.P24P|SLC38A9_ENST00000416547.2_5'UTR|SLC38A9_ENST00000504880.1_5'UTR|SLC38A9_ENST00000396865.2_Silent_p.P24P	p.P24P			Q8NBW4	S38A9_HUMAN			1	71	-		Lung NSC(810;0.00122)|Prostate(74;0.0376)|Breast(144;0.181)	24					B3KXV1|B7Z7D0|Q0P5S0|Q6MZJ8	Silent	SNP	ENST00000396865.2	37	c.72T>A	CCDS3968.1																																																																																				0.353	SLC38A9-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253912.2	NM_173514		14	62	0	0	0	1	0	14	62					T	54993715	A	T	54993715	2	4	383	1	0	0	0	0	0	0	0	1	14611	407	15	5		5	SLC38A9	5	54993715	Silent	SNP	A	TCGA-V1-A9O9-01A-11D-A41K-08		54993715	125921545	16	18835											
CEP120	153241	broad.mit.edu	37	chr5	122720737	122720737	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaacgagttttttctgaagaCaagatgttagaaagctggat	15	12	10	4	1	1	4	0	1	1	3	1	6	1	5	0	1	2	3	0	1	5	4	rs75289011	byFrequency	TCGA-V1-A9O9-01A-11D-A41K-08	TCGA-V1-A9O9-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcad0c26-dab3-4bf0-9ef6-a5be33131a61	8636a67d-a41b-4d6d-ad70-2f28e9aeda6e	g.chr5:122720737C>A	ENST00000306467.5	-	11	1975	c.1671G>T	c.(1669-1671)ttG>ttT	p.L557F	CEP120_ENST00000306481.6_Missense_Mutation_p.L531F|CEP120_ENST00000328236.5_Missense_Mutation_p.L557F			Q8N960	CE120_HUMAN	centrosomal protein 120kDa	557					astral microtubule organization (GO:0030953)|cerebral cortex development (GO:0021987)|interkinetic nuclear migration (GO:0022027)|neurogenesis (GO:0022008)|regulation of microtubule-based process (GO:0032886)|regulation of protein localization (GO:0032880)	centrosome (GO:0005813)|cytoplasm (GO:0005737)				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	29						TTTCTGAAGACAAGATGTTAG	0.388																																						ENST00000306467.5																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	29						c.(1669-1671)ttG>ttT		centrosomal protein 120kDa							123	119	120					5																	122720737		2203	4300	6503	SO:0001583	missense	153241					centrosome		g.chr5:122720737C>A	AK095646	CCDS4134.2, CCDS54890.1	5q23.2	2014-02-20	2008-08-14	2008-08-14	ENSG00000168944	ENSG00000168944			26690	protein-coding gene	gene with protein product		613446	"coiled-coil domain containing 100"	CCDC100		17920017	Standard	NM_153223		Approved	FLJ36090	uc003ktk.3	Q8N960	OTTHUMG00000128922	ENST00000306467.5:c.1671G>T	5.37:g.122720737C>A	ENSP00000303058:p.Leu557Phe					CEP120_ENST00000328236.5_Missense_Mutation_p.L557F|CEP120_ENST00000306481.6_Missense_Mutation_p.L531F	p.L557F			Q8N960	CE120_HUMAN			11	1975	-			557					Q6AI52|Q6AW89|Q8IWB5|Q8N9Y0|Q8NDE8	Missense_Mutation	SNP	ENST00000306467.5	37	c.1671G>T	CCDS4134.2	.	.	.	.	.	.	.	.	.	.	C	14.69	2.609336	0.46527	.	.	ENSG00000168944	ENST00000306467;ENST00000328236;ENST00000306481;ENST00000508442	T;T;T;T	0.61392	0.11;0.11;0.11;0.11	5.62	0.53	0.17102	.	0.000000	0.64402	D	0.000002	T	0.50257	0.1605	M	0.72894	2.215	0.80722	D	1	B	0.28552	0.215	B	0.28709	0.093	T	0.47114	-0.9142	10	0.62326	D	0.03	-3.1615	5.8106	0.18463	0.0:0.5206:0.1267:0.3526	.	557	Q8N960	CE120_HUMAN	F	557;557;531;531	ENSP00000303058:L557F;ENSP00000327504:L557F;ENSP00000307419:L531F;ENSP00000421620:L531F	ENSP00000303058:L557F	L	-	3	2	CEP120	122748636	0.978000	0.34361	1.000000	0.80357	0.956000	0.61745	0.120000	0.15647	0.274000	0.22072	0.650000	0.86243	TTG		0.388	CEP120-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250899.2	NM_153223		6	49	1	0	0.00116845	1	0.00116845	6	49					A	122720737	C	A	122720737	3	1	383	1	0	0	0	0	1	0	0	0	3246	477	17	5	1329	5	CEP120	5	122720737	Missense_Mutation	SNP	C	TCGA-V1-A9O9-01A-11D-A41K-08	67727022	122720737	58194523	17	18836											
HEY2	23493	broad.mit.edu	37	chr6	126080635	126080635	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cacggccacgtttgcccatgCggattcagccctccgaatgc	7	8	10	16	4	1	0	1	0	0	0	2	2	2	1	4	2	4	1	4	2	1	2			TCGA-V1-A9O9-01A-11D-A41K-08	TCGA-V1-A9O9-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcad0c26-dab3-4bf0-9ef6-a5be33131a61	8636a67d-a41b-4d6d-ad70-2f28e9aeda6e	g.chr6:126080635C>T	ENST00000368364.3	+	5	898	c.701C>T	c.(700-702)gCg>gTg	p.A234V	HEY2_ENST00000368365.1_Missense_Mutation_p.A188V	NM_012259.2	NP_036391.1	Q9UBP5	HEY2_HUMAN	hes-related family bHLH transcription factor with YRPW motif 2	234					anterior/posterior axis specification (GO:0009948)|arterial endothelial cell differentiation (GO:0060842)|ascending aorta morphogenesis (GO:0035910)|atrial septum morphogenesis (GO:0060413)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac left ventricle morphogenesis (GO:0003214)|cardiac muscle hypertrophy in response to stress (GO:0014898)|cardiac right ventricle morphogenesis (GO:0003215)|cardiac septum morphogenesis (GO:0060411)|cardiac vascular smooth muscle cell development (GO:0060948)|cardiac ventricle morphogenesis (GO:0003208)|cell fate commitment (GO:0045165)|cochlea development (GO:0090102)|coronary vasculature morphogenesis (GO:0060977)|dorsal aorta morphogenesis (GO:0035912)|endocardial cushion to mesenchymal transition involved in heart valve formation (GO:0003199)|heart trabecula formation (GO:0060347)|labyrinthine layer blood vessel development (GO:0060716)|mesenchymal cell development (GO:0014031)|muscular septum morphogenesis (GO:0003150)|negative regulation of cardiac muscle cell apoptotic process (GO:0010667)|negative regulation of cardiac vascular smooth muscle cell differentiation (GO:2000723)|negative regulation of gene expression (GO:0010629)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of transcription by transcription factor localization (GO:0010621)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation (GO:2000820)|negative regulation of transcription initiation from RNA polymerase II promoter (GO:0060633)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|outflow tract morphogenesis (GO:0003151)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of heart rate (GO:0010460)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein-DNA complex assembly (GO:0065004)|pulmonary artery morphogenesis (GO:0061156)|pulmonary valve morphogenesis (GO:0003184)|regulation of auditory receptor cell differentiation (GO:0045607)|regulation of vasculogenesis (GO:2001212)|smooth muscle cell differentiation (GO:0051145)|tricuspid valve formation (GO:0003195)|tricuspid valve morphogenesis (GO:0003186)|umbilical cord morphogenesis (GO:0036304)|vascular smooth muscle cell development (GO:0097084)|vasculogenesis (GO:0001570)|ventricular cardiac muscle cell development (GO:0055015)|ventricular septum morphogenesis (GO:0060412)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	histone deacetylase binding (GO:0042826)|microsatellite binding (GO:0035939)|protein binding transcription factor activity (GO:0000988)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity (GO:0000983)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			breast(1)|large_intestine(7)|lung(5)|prostate(1)	14				UCEC - Uterine corpus endometrioid carcinoma (4;0.0608)|GBM - Glioblastoma multiforme(226;0.0361)|all cancers(137;0.193)		TTTGCCCATGCGGATTCAGCC	0.647																																						ENST00000368364.3																			0				breast(1)|large_intestine(7)|lung(5)|prostate(1)	14						c.(700-702)gCg>gTg		hes-related family bHLH transcription factor with YRPW motif 2							174	159	164					6																	126080635		2203	4300	6503	SO:0001583	missense	23493				negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription initiation from RNA polymerase II promoter|negative regulation of transcription regulatory region DNA binding|Notch signaling pathway|smooth muscle cell differentiation|transcription, DNA-dependent	transcriptional repressor complex	histone deacetylase binding|RNA polymerase II activating transcription factor binding|sequence-specific DNA binding	g.chr6:126080635C>T	AJ249545	CCDS5131.1	6q	2013-10-17	2013-10-17		ENSG00000135547	ENSG00000135547		"Basic helix-loop-helix proteins"	4881	protein-coding gene	gene with protein product		604674	"hairy/enhancer-of-split related with YRPW motif 2"			10415358	Standard	NM_012259		Approved	bHLHb32, HERP1, HESR2	uc003qad.3	Q9UBP5	OTTHUMG00000015512	ENST00000368364.3:c.701C>T	6.37:g.126080635C>T	ENSP00000357348:p.Ala234Val					HEY2_ENST00000368365.1_Missense_Mutation_p.A188V	p.A234V	NM_012259.2	NP_036391.1	Q9UBP5	HEY2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;0.0608)|GBM - Glioblastoma multiforme(226;0.0361)|all cancers(137;0.193)	5	898	+			234						Missense_Mutation	SNP	ENST00000368364.3	37	c.701C>T	CCDS5131.1	.	.	.	.	.	.	.	.	.	.	C	16.69	3.194167	0.58017	.	.	ENSG00000135547	ENST00000368365;ENST00000368364	T;T	0.58797	0.31;0.31	4.95	4.95	0.65309	.	1.200460	0.05971	N	0.642316	T	0.34337	0.0894	L	0.29908	0.895	0.46376	D	0.999017	P	0.35011	0.48	B	0.26094	0.066	T	0.16276	-1.0408	10	0.30854	T	0.27	-28.093	18.3639	0.90384	0.0:1.0:0.0:0.0	.	234	Q9UBP5	HEY2_HUMAN	V	188;234	ENSP00000357349:A188V;ENSP00000357348:A234V	ENSP00000357348:A234V	A	+	2	0	HEY2	126122328	0.490000	0.26012	0.856000	0.33681	0.961000	0.63080	4.476000	0.60216	2.566000	0.86566	0.561000	0.74099	GCG		0.647	HEY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042077.1			4	184	0	0	0	1	0	4	184					T	126080635	C	T	126080635	3	4	383	1	0	0	0	0	1	0	0	0	7079	768	27	1	719	1	HEY2	6	126080635	Missense_Mutation	SNP	C	TCGA-V1-A9O9-01A-11D-A41K-08		126080635	45034432	18	18837											
TULP4	56995	broad.mit.edu	37	chr6	158924858	158924858	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gaagaaagtgaagagtcagaAagaccaactgaagtcaaaga	21	4	11	5	0	2	7	2	2	0	5	2	8	2	7	1	0	1	0	1	0	7	0			TCGA-V1-A9O9-01A-11D-A41K-08	TCGA-V1-A9O9-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcad0c26-dab3-4bf0-9ef6-a5be33131a61	8636a67d-a41b-4d6d-ad70-2f28e9aeda6e	g.chr6:158924858A>G	ENST00000367097.3	+	13	5520	c.4163A>G	c.(4162-4164)aAa>aGa	p.K1388R	TULP4_ENST00000367094.2_Intron	NM_020245.4	NP_064630.2	Q9NRJ4	TULP4_HUMAN	tubby like protein 4	1388					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)|regulation of transcription, DNA-templated (GO:0006355)|response to nutrient (GO:0007584)	cytoplasm (GO:0005737)	sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(7)|kidney(2)|large_intestine(15)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171)		OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05)		AAGAGTCAGAAAGACCAACTG	0.488																																						ENST00000367097.3																			0				endometrium(7)|kidney(2)|large_intestine(15)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49						c.(4162-4164)aAa>aGa		tubby like protein 4							65	68	67					6																	158924858		2203	4300	6503	SO:0001583	missense	56995				intracellular signal transduction|response to nutrient	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity	g.chr6:158924858A>G		CCDS34561.1, CCDS34562.1	6q25-q26	2013-01-10			ENSG00000130338	ENSG00000130338		"WD repeat domain containing"	15530	protein-coding gene	gene with protein product						11595174	Standard	NM_020245		Approved	TUSP, KIAA1397	uc003qrf.3	Q9NRJ4	OTTHUMG00000015910	ENST00000367097.3:c.4163A>G	6.37:g.158924858A>G	ENSP00000356064:p.Lys1388Arg					TULP4_ENST00000367094.2_Intron	p.K1388R	NM_020245.4	NP_064630.2	Q9NRJ4	TULP4_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05)	13	5520	+		Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171)	1388					Q5T3M2|Q5T3M3|Q9HD22|Q9P2F0	Missense_Mutation	SNP	ENST00000367097.3	37	c.4163A>G	CCDS34561.1	.	.	.	.	.	.	.	.	.	.	A	19.04	3.749873	0.69533	.	.	ENSG00000130338	ENST00000367097	T	0.64438	-0.1	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	T	0.33411	0.0862	N	0.16478	0.41	0.80722	D	1	B	0.21606	0.058	B	0.25405	0.06	T	0.20773	-1.0265	10	0.31617	T	0.26	-8.9843	15.9319	0.79668	1.0:0.0:0.0:0.0	.	1388	Q9NRJ4	TULP4_HUMAN	R	1388	ENSP00000356064:K1388R	ENSP00000356064:K1388R	K	+	2	0	TULP4	158844846	1.000000	0.71417	0.974000	0.42286	0.974000	0.67602	6.912000	0.75753	2.225000	0.72522	0.459000	0.35465	AAA		0.488	TULP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042869.1	NM_020245		3	23	0	0	0	1	0	3	23					G	158924858	A	G	158924858	3	3	383	1	0	0	0	0	1	0	0	0	16773	14	1	4	4213	4	TULP4	6	158924858	Missense_Mutation	SNP	A	TCGA-V1-A9O9-01A-11D-A41K-08	32844223	158924858	12190209	19	18838											
PIK3CG	5294	broad.mit.edu	37	chr7	106515220	106515220	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagctttagagttccatatgAtcctggactgaaagcaggag	13	10	11	7	0	0	3	0	2	0	1	2	5	2	5	2	2	2	3	2	2	4	4			TCGA-V1-A9O9-01A-11D-A41K-08	TCGA-V1-A9O9-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcad0c26-dab3-4bf0-9ef6-a5be33131a61	8636a67d-a41b-4d6d-ad70-2f28e9aeda6e	g.chr7:106515220A>G	ENST00000359195.3	+	5	2673	c.2363A>G	c.(2362-2364)gAt>gGt	p.D788G	PIK3CG_ENST00000440650.2_Missense_Mutation_p.D788G|PIK3CG_ENST00000496166.1_Missense_Mutation_p.D788G	NM_001282427.1|NM_002649.2	NP_001269356.1|NP_002640.2	P48736	PK3CG_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma	788					adaptive immune response (GO:0002250)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cytokine production (GO:0001816)|dendritic cell chemotaxis (GO:0002407)|endocytosis (GO:0006897)|G-protein coupled receptor signaling pathway (GO:0007186)|hepatocyte apoptotic process (GO:0097284)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|mast cell degranulation (GO:0043303)|natural killer cell chemotaxis (GO:0035747)|negative regulation of cardiac muscle contraction (GO:0055118)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of triglyceride catabolic process (GO:0010897)|neutrophil chemotaxis (GO:0030593)|neutrophil extravasation (GO:0072672)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of cell adhesion mediated by integrin (GO:0033628)|respiratory burst involved in defense response (GO:0002679)|secretory granule localization (GO:0032252)|small molecule metabolic process (GO:0044281)|T cell activation (GO:0042110)|T cell chemotaxis (GO:0010818)|T cell proliferation (GO:0042098)	1-phosphatidylinositol-4-phosphate 3-kinase, class IB complex (GO:0005944)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|mast cell granule (GO:0042629)|membrane (GO:0016020)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|ephrin receptor binding (GO:0046875)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						GTTCCATATGATCCTGGACTG	0.433																																						ENST00000359195.3																			0				breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						c.(2362-2364)gAt>gGt		phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma							72	73	73					7																	106515220		2203	4300	6503	SO:0001583	missense	5294				G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding	g.chr7:106515220A>G		CCDS5739.1	7q22	2012-07-13	2012-07-13		ENSG00000105851	ENSG00000105851	2.7.1.153		8978	protein-coding gene	gene with protein product		601232	"phosphoinositide-3-kinase, catalytic, gamma polypeptide"				Standard	XM_005250443		Approved		uc003vdw.3	P48736	OTTHUMG00000157641	ENST00000359195.3:c.2363A>G	7.37:g.106515220A>G	ENSP00000352121:p.Asp788Gly					PIK3CG_ENST00000440650.2_Missense_Mutation_p.D788G|PIK3CG_ENST00000496166.1_Missense_Mutation_p.D788G	p.D788G	NM_002649.2	NP_002640.2	P48736	PK3CG_HUMAN			5	2673	+			788					A4D0Q6|Q8IV23|Q9BZC8	Missense_Mutation	SNP	ENST00000359195.3	37	c.2363A>G	CCDS5739.1	.	.	.	.	.	.	.	.	.	.	A	24.2	4.499595	0.85176	.	.	ENSG00000105851	ENST00000440650;ENST00000496166;ENST00000473541;ENST00000359195	T;T;T;T	0.80994	-1.44;-1.44;-1.44;-1.44	5.11	5.11	0.69529	Protein kinase-like domain (1);	0.000000	0.85682	D	0.000000	D	0.89431	0.6713	M	0.85197	2.74	0.80722	D	1	D	0.67145	0.996	D	0.63703	0.917	D	0.90610	0.4551	10	0.52906	T	0.07	-26.0268	14.909	0.70740	1.0:0.0:0.0:0.0	.	788	P48736	PK3CG_HUMAN	G	788;788;61;788	ENSP00000392258:D788G;ENSP00000419260:D788G;ENSP00000417623:D61G;ENSP00000352121:D788G	ENSP00000352121:D788G	D	+	2	0	PIK3CG	106302456	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.558000	0.90704	1.906000	0.55180	0.528000	0.53228	GAT		0.433	PIK3CG-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349294.1			11	72	0	0	0	1	0	11	72					G	106515220	A	G	106515220	3	3	383	1	0	0	0	0	1	0	0	0	11916	333	12	4	2377	4	PIK3CG	7	106515220	Missense_Mutation	SNP	A	TCGA-V1-A9O9-01A-11D-A41K-08		106515220	52623443	20	18839											
FLNC	2318	broad.mit.edu	37	chr7	128493622	128493622	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	caaagtcacctactgccccaCcgagcccggcacctacatca	11	5	6	19	2	2	0	2	0	0	0	2	1	2	0	6	1	4	1	6	1	3	2			TCGA-V1-A9O9-01A-11D-A41K-08	TCGA-V1-A9O9-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcad0c26-dab3-4bf0-9ef6-a5be33131a61	8636a67d-a41b-4d6d-ad70-2f28e9aeda6e	g.chr7:128493622C>A	ENST00000325888.8	+	38	6569	c.6308C>A	c.(6307-6309)aCc>aAc	p.T2103N	RP11-309L24.2_ENST00000469965.1_RNA|FLNC_ENST00000346177.6_Missense_Mutation_p.T2070N	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	2103					cell junction assembly (GO:0034329)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|cytoskeletal protein binding (GO:0008092)			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						TACTGCCCCACCGAGCCCGGC	0.582																																						ENST00000325888.8																			0				biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						c.(6307-6309)aCc>aAc		filamin C, gamma							99	108	105					7																	128493622		2072	4203	6275	SO:0001583	missense	2318				cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding	g.chr7:128493622C>A	AB208865	CCDS43644.1, CCDS47705.1	7q32-q35	2014-09-17	2009-07-23		ENSG00000128591	ENSG00000128591			3756	protein-coding gene	gene with protein product	"actin binding protein 280"	102565	"filamin C, gamma (actin binding protein 280)"	FLN2		7689010, 8088838	Standard	NM_001458		Approved	ABP-280, ABPL	uc003vnz.4	Q14315	OTTHUMG00000023627	ENST00000325888.8:c.6308C>A	7.37:g.128493622C>A	ENSP00000327145:p.Thr2103Asn					RP11-309L24.2_ENST00000469965.1_RNA|FLNC_ENST00000346177.6_Missense_Mutation_p.T2070N	p.T2103N	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN			38	6569	+			2103					B2ZZ88|O95303|Q07985|Q9NS12|Q9NYE5|Q9UMR8|Q9Y503	Missense_Mutation	SNP	ENST00000325888.8	37	c.6308C>A	CCDS43644.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.053668	0.75960	.	.	ENSG00000128591	ENST00000325888;ENST00000346177	D;D	0.85013	-1.93;-1.93	5.42	4.54	0.55810	Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.93546	0.7940	M	0.91612	3.225	0.53688	D	0.999973	D;D	0.64830	0.994;0.992	D;D	0.85130	0.997;0.99	D	0.94562	0.7763	10	0.72032	D	0.01	.	13.9954	0.64392	0.0:0.9272:0.0:0.0728	.	2070;2103	Q14315-2;Q14315	.;FLNC_HUMAN	N	2103;2070	ENSP00000327145:T2103N;ENSP00000344002:T2070N	ENSP00000327145:T2103N	T	+	2	0	FLNC	128280858	1.000000	0.71417	0.713000	0.30519	0.940000	0.58332	7.792000	0.85828	1.290000	0.44636	0.561000	0.74099	ACC		0.582	FLNC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059948.3			5	26	1	0	1.23904e-05	1	1.29291e-05	5	26					A	128493622	C	A	128493622	3	1	383	1	0	0	0	0	1	0	0	0	5935	507	18	5	6458	5	FLNC	7	128493622	Missense_Mutation	SNP	C	TCGA-V1-A9O9-01A-11D-A41K-08	21978402	128493622	30645041	21	18840											
SLC4A2	6522	broad.mit.edu	37	chr7	150767855	150767855	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gccccaccatggcctttgtgCggctccgggaggctgtggag	4	8	16	13	2	0	0	0	0	0	0	1	2	1	2	5	5	1	2	5	5	0	1			TCGA-V1-A9O9-01A-11D-A41K-08	TCGA-V1-A9O9-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcad0c26-dab3-4bf0-9ef6-a5be33131a61	8636a67d-a41b-4d6d-ad70-2f28e9aeda6e	g.chr7:150767855C>T	ENST00000485713.1	+	12	2646	c.1606C>T	c.(1606-1608)Cgg>Tgg	p.R536W	SLC4A2_ENST00000461735.1_Missense_Mutation_p.R522W|SLC4A2_ENST00000392826.2_Missense_Mutation_p.R527W|SLC4A2_ENST00000310317.5_Missense_Mutation_p.R454W|SLC4A2_ENST00000413384.2_Missense_Mutation_p.R536W	NM_001199692.1	NP_001186621.1	P04920	B3A2_HUMAN	solute carrier family 4 (anion exchanger), member 2	536					anion transport (GO:0006820)|bicarbonate transport (GO:0015701)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	anion transmembrane transporter activity (GO:0008509)|chloride transmembrane transporter activity (GO:0015108)|inorganic anion exchanger activity (GO:0005452)			NS(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(14)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	33			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GGCCTTTGTGCGGCTCCGGGA	0.647																																						ENST00000485713.1																			0				NS(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(14)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	33						c.(1606-1608)Cgg>Tgg		solute carrier family 4 (anion exchanger), member 2							89	84	86					7																	150767855		2203	4300	6503	SO:0001583	missense	6522				bicarbonate transport	integral to membrane|membrane fraction	inorganic anion exchanger activity	g.chr7:150767855C>T		CCDS5917.1, CCDS56520.1, CCDS56521.1	7q36.1	2013-07-19	2013-07-19		ENSG00000164889	ENSG00000164889		"Solute carriers"	11028	protein-coding gene	gene with protein product	"anion exchanger 2 type a", "anion exchanger 2 type b1", "anion exchanger 2 type b2"	109280	"erythrocyte membrane protein band 3-like 1", "solute carrier family 4, anion exchanger, member 2 (erythrocyte membrane protein band 3-like 1)"	EPB3L1, AE2		8434259	Standard	NM_003040		Approved	HKB3, BND3L, NBND3	uc003wit.4	P04920	OTTHUMG00000158443	ENST00000485713.1:c.1606C>T	7.37:g.150767855C>T	ENSP00000419412:p.Arg536Trp					SLC4A2_ENST00000461735.1_Missense_Mutation_p.R522W|SLC4A2_ENST00000392826.2_Missense_Mutation_p.R527W|SLC4A2_ENST00000413384.2_Missense_Mutation_p.R536W|SLC4A2_ENST00000310317.5_Missense_Mutation_p.R454W	p.R536W	NM_001199692.1	NP_001186621.1	P04920	B3A2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	12	2646	+			536					B2R6T0|B4DIT0|D3DX05|F8W682|Q45EY5|Q969L3	Missense_Mutation	SNP	ENST00000485713.1	37	c.1606C>T	CCDS5917.1	.	.	.	.	.	.	.	.	.	.	C	19.55	3.848062	0.71603	.	.	ENSG00000164889	ENST00000485713;ENST00000413384;ENST00000310317;ENST00000392826;ENST00000461735	D;D;D;D;D	0.85088	-1.94;-1.94;-1.94;-1.94;-1.94	5.27	4.3	0.51218	Bicarbonate transporter, cytoplasmic (2);Phosphotransferase/anion transporter (1);	0.000000	0.85682	D	0.000000	D	0.94647	0.8274	H	0.96208	3.785	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.96106	0.9073	10	0.87932	D	0	.	15.4061	0.74881	0.1484:0.8515:0.0:0.0	.	527;522;536	F8W682;P04920-2;P04920	.;.;B3A2_HUMAN	W	536;536;454;527;522	ENSP00000419412:R536W;ENSP00000405600:R536W;ENSP00000311402:R454W;ENSP00000376571:R527W;ENSP00000419164:R522W	ENSP00000311402:R454W	R	+	1	2	SLC4A2	150398788	1.000000	0.71417	1.000000	0.80357	0.893000	0.52053	2.341000	0.43983	2.474000	0.83562	0.650000	0.86243	CGG		0.647	SLC4A2-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000351039.1	NM_003040		3	34	0	0	0	1	0	3	34					T	150767855	C	T	150767855	3	4	383	1	0	0	0	0	1	0	0	0	14654	759	27	1	1648	1	SLC4A2	7	150767855	Missense_Mutation	SNP	C	TCGA-V1-A9O9-01A-11D-A41K-08	22274233	150767855	8370808	22	18841											
TTC35	9694	broad.mit.edu	37	chr8	109489050	109489050	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacttgaaaacctcgaacttTcaagaaagtattttgcacag	15	11	7	8	1	1	2	1	1	0	1	2	4	1	2	1	0	3	2	1	0	6	5			TCGA-V1-A9O9-01A-11D-A41K-08	TCGA-V1-A9O9-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcad0c26-dab3-4bf0-9ef6-a5be33131a61	8636a67d-a41b-4d6d-ad70-2f28e9aeda6e	g.chr8:109489050T>G	ENST00000220853.3	+	9	666	c.631T>G	c.(631-633)Tca>Gca	p.S211A	EMC2_ENST00000520294.1_3'UTR	NM_014673.3	NP_055488.1	Q15006	EMC2_HUMAN	ER membrane protein complex subunit 2	211						cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|ER membrane protein complex (GO:0072546)|mitochondrion (GO:0005739)|nucleus (GO:0005634)											CCTCGAACTTTCAAGAAAGTA	0.333																																						ENST00000220853.3																			0											c.(631-633)Tca>Gca		ER membrane protein complex subunit 2							128	128	128					8																	109489050		2203	4299	6502	SO:0001583	missense	9694							g.chr8:109489050T>G	BC021667	CCDS6309.1	8q23.2	2012-05-23	2012-05-23	2012-05-23	ENSG00000104412	ENSG00000104412			28963	protein-coding gene	gene with protein product		607722	"tetratricopeptide repeat domain 35"	KIAA0103, TTC35		7788527, 22119785	Standard	NM_014673		Approved		uc003ymw.1	Q15006	OTTHUMG00000164873	ENST00000220853.3:c.631T>G	8.37:g.109489050T>G	ENSP00000220853:p.Ser211Ala					EMC2_ENST00000520294.1_3'UTR	p.S211A	NM_014673.3	NP_055488.1					9	666	+								Q8WUE1	Missense_Mutation	SNP	ENST00000220853.3	37	c.631T>G	CCDS6309.1	.	.	.	.	.	.	.	.	.	.	T	0.009	-1.798540	0.00617	.	.	ENSG00000104412	ENST00000220853	T	0.35421	1.31	6.06	4.9	0.64082	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.118551	0.64402	D	0.000017	T	0.12433	0.0302	N	0.01267	-0.92	0.45995	D	0.998804	B	0.02656	0.0	B	0.04013	0.001	T	0.20140	-1.0284	10	0.02654	T	1	-8.4472	13.6216	0.62140	0.0:0.0:0.1293:0.8707	.	211	Q15006	TTC35_HUMAN	A	211	ENSP00000220853:S211A	ENSP00000220853:S211A	S	+	1	0	TTC35	109558226	1.000000	0.71417	1.000000	0.80357	0.032000	0.12392	3.739000	0.55075	1.096000	0.41439	-0.321000	0.08615	TCA		0.333	EMC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380717.1	NM_014673		10	26	0	0	0	1	0	10	26					G	109489050	T	G	109489050	3	3	383	1	0	0	0	0	1	0	0	0	16700	1783	62	5	665	5	TTC35	8	109489050	Missense_Mutation	SNP	T	TCGA-V1-A9O9-01A-11D-A41K-08		109489050	36874972	23	18842											
IFNA14	3448	broad.mit.edu	37	chr9	21239506	21239506	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	attctttggaagtatttcttCacagccaggatggagtcctc	9	14	9	9	0	3	0	1	0	2	0	5	3	4	3	2	3	1	1	2	3	2	5			TCGA-V1-A9O9-01A-11D-A41K-08	TCGA-V1-A9O9-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcad0c26-dab3-4bf0-9ef6-a5be33131a61	8636a67d-a41b-4d6d-ad70-2f28e9aeda6e	g.chr9:21239506C>T	ENST00000380222.2	-	1	472	c.429G>A	c.(427-429)gtG>gtA	p.V143V		NM_002172.2	NP_002163.2	P01570	IFN14_HUMAN	interferon, alpha 14	143					adaptive immune response (GO:0002250)|B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|natural killer cell activation involved in immune response (GO:0002323)|positive regulation of peptidyl-serine phosphorylation of STAT protein (GO:0033141)|regulation of MHC class I biosynthetic process (GO:0045343)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to exogenous dsRNA (GO:0043330)|T cell activation involved in immune response (GO:0002286)|type I interferon signaling pathway (GO:0060337)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	cytokine activity (GO:0005125)|cytokine receptor binding (GO:0005126)|type I interferon receptor binding (GO:0005132)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(7)	11				Lung(24;2.12e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)		AGTATTTCTTCACAGCCAGGA	0.463																																						ENST00000380222.2																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(7)	11						c.(427-429)gtG>gtA		interferon, alpha 14							218	220	219					9																	21239506		2203	4300	6503	SO:0001819	synonymous_variant	3448				blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|cytokine receptor binding	g.chr9:21239506C>T		CCDS6501.1	9p22	2010-08-24			ENSG00000228083	ENSG00000228083		"Interferons"	5420	protein-coding gene	gene with protein product		147579				1385305	Standard	NM_002172		Approved	LEIF2H, IFN-alphaH	uc010mis.3	P01570	OTTHUMG00000019665	ENST00000380222.2:c.429G>A	9.37:g.21239506C>T							p.V143V	NM_002172.2	NP_002163.2	P01570	IFN14_HUMAN		Lung(24;2.12e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)	1	472	-			143					Q5VZ56|Q7M4S1	Silent	SNP	ENST00000380222.2	37	c.429G>A	CCDS6501.1																																																																																				0.463	IFNA14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051894.1	NM_002172		74	229	0	0	0	1	0	74	229					T	21239506	C	T	21239506	2	4	383	1	0	0	0	0	0	0	0	1	7534	813	29	3		3	IFNA14	9	21239506	Silent	SNP	C	TCGA-V1-A9O9-01A-11D-A41K-08		21239506	119973925	24	18843											
ZMYND19	116225	broad.mit.edu	37	chr9	140481540	140481540	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacctggaagcccggggccaCgcccccccggtgccgctccc	4	3	12	22	4	0	0	0	0	0	0	1	1	1	1	8	4	2	1	8	4	1	0			TCGA-V1-A9O9-01A-11D-A41K-08	TCGA-V1-A9O9-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcad0c26-dab3-4bf0-9ef6-a5be33131a61	8636a67d-a41b-4d6d-ad70-2f28e9aeda6e	g.chr9:140481540C>T	ENST00000298585.2	-	4	464	c.238G>A	c.(238-240)Gtg>Atg	p.V80M	ZMYND19_ENST00000471957.1_5'UTR	NM_138462.2	NP_612471.1	Q96E35	ZMY19_HUMAN	zinc finger, MYND-type containing 19	80						cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|synapse (GO:0045202)	metal ion binding (GO:0046872)			endometrium(1)|large_intestine(2)|lung(5)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	13	all_cancers(76;0.106)			OV - Ovarian serous cystadenocarcinoma(145;0.000275)|Epithelial(140;0.00047)		CCCGGGGCCACGCCCCCCCGG	0.632																																						ENST00000298585.2																			0				endometrium(1)|large_intestine(2)|lung(5)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	13						c.(238-240)Gtg>Atg		zinc finger, MYND-type containing 19							52	61	58					9																	140481540		2203	4298	6501	SO:0001583	missense	116225					Golgi apparatus|plasma membrane	zinc ion binding	g.chr9:140481540C>T	BC012948	CCDS7048.1	9q34.3	2008-02-05			ENSG00000165724	ENSG00000165724		"Zinc fingers, MYND-type"	21146	protein-coding gene	gene with protein product		611424					Standard	NM_138462		Approved	MIZIP	uc004cno.1	Q96E35	OTTHUMG00000020992	ENST00000298585.2:c.238G>A	9.37:g.140481540C>T	ENSP00000298585:p.Val80Met					ZMYND19_ENST00000471957.1_5'UTR	p.V80M	NM_138462.2	NP_612471.1	Q96E35	ZMY19_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;0.000275)|Epithelial(140;0.00047)	4	464	-	all_cancers(76;0.106)		80					Q5T366	Missense_Mutation	SNP	ENST00000298585.2	37	c.238G>A	CCDS7048.1	.	.	.	.	.	.	.	.	.	.	C	12.91	2.080651	0.36758	.	.	ENSG00000165724	ENST00000298585	.	.	.	5.06	-1.58	0.08479	.	0.367148	0.30510	N	0.009466	T	0.25901	0.0631	N	0.22421	0.69	0.27044	N	0.963932	B	0.19817	0.039	B	0.14023	0.01	T	0.21143	-1.0254	9	0.87932	D	0	-9.9506	11.331	0.49477	0.0:0.6049:0.0:0.3951	.	80	Q96E35	ZMY19_HUMAN	M	80	.	ENSP00000298585:V80M	V	-	1	0	ZMYND19	139601361	1.000000	0.71417	0.029000	0.17559	0.793000	0.44817	1.220000	0.32491	-0.329000	0.08527	-0.140000	0.14226	GTG		0.632	ZMYND19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055356.1	NM_138462		7	51	0	0	0	1	0	7	51					T	140481540	C	T	140481540	3	4	383	1	0	0	0	0	1	0	0	0	17707	536	19	1	457	1	ZMYND19	9	140481540	Missense_Mutation	SNP	C	TCGA-V1-A9O9-01A-11D-A41K-08	119242034	140481540	731891	25	18844											
LARP4B	23185	broad.mit.edu	37	chr10	871233	871233	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcactaggaatcgcatgcCgcagatgagatttactagga	12	9	11	9	2	0	2	0	1	0	2	1	5	0	4	1	2	3	3	1	2	4	4			TCGA-V1-A9O9-01A-11D-A41K-08	TCGA-V1-A9O9-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcad0c26-dab3-4bf0-9ef6-a5be33131a61	8636a67d-a41b-4d6d-ad70-2f28e9aeda6e	g.chr10:871233C>A	ENST00000316157.3	-	12	1296	c.1256G>T	c.(1255-1257)cGg>cTg	p.R419L		NM_015155.1	NP_055970.1	Q92615	LAR4B_HUMAN	La ribonucleoprotein domain family, member 4B	419					positive regulation of translation (GO:0045727)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleolus (GO:0005730)|polysomal ribosome (GO:0042788)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(2)|skin(2)|urinary_tract(2)	38						AATCGCATGCCGCAGATGAGA	0.378																																						ENST00000316157.3																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(2)|skin(2)|urinary_tract(2)	38						c.(1255-1257)cGg>cTg		La ribonucleoprotein domain family, member 4B							89	96	94					10																	871233		2203	4300	6503	SO:0001583	missense	23185						nucleotide binding|RNA binding	g.chr10:871233C>A	D86971	CCDS31131.1	10p15.3	2011-08-24	2009-06-09	2009-06-09	ENSG00000107929	ENSG00000107929		"La ribonucleoprotein domain containing"	28987	protein-coding gene	gene with protein product			"KIAA0217", "La ribonucleoprotein domain family, member 5"	KIAA0217, LARP5		9039502, 20573744	Standard	NM_015155		Approved		uc031ptb.1	Q92615	OTTHUMG00000017534	ENST00000316157.3:c.1256G>T	10.37:g.871233C>A	ENSP00000326128:p.Arg419Leu						p.R419L	NM_015155.1	NP_055970.1	Q92615	LAR4B_HUMAN			12	1296	-			419					A7MD20|Q5T3R3|Q5T3R4|Q5T3R5|Q68CY4	Missense_Mutation	SNP	ENST00000316157.3	37	c.1256G>T	CCDS31131.1	.	.	.	.	.	.	.	.	.	.	C	26.9	4.782737	0.90282	.	.	ENSG00000107929	ENST00000316157	T	0.37584	1.19	5.57	5.57	0.84162	.	0.000000	0.85682	D	0.000000	T	0.56171	0.1967	L	0.47190	1.495	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.53121	-0.8483	10	0.51188	T	0.08	-3.5475	19.555	0.95342	0.0:1.0:0.0:0.0	.	419	Q92615	LAR4B_HUMAN	L	419	ENSP00000326128:R419L	ENSP00000326128:R419L	R	-	2	0	LARP4B	861233	1.000000	0.71417	1.000000	0.80357	0.875000	0.50365	6.563000	0.73964	2.640000	0.89533	0.655000	0.94253	CGG		0.378	LARP4B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046395.2	NM_015155		13	81	1	0	2.27111e-07	1	2.42252e-07	13	81					A	871233	C	A	871233	3	1	383	1	0	0	0	0	1	0	0	0	8631	652	23	5	984	5	LARP4B	10	871233	Missense_Mutation	SNP	C	TCGA-V1-A9O9-01A-11D-A41K-08		871233	134663514	26	18845											
RPP30	10556	broad.mit.edu	37	chr10	92655210	92655210	+	Splice_Site	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tagtcactttctattttgtaGaatgtaattatatctagtgc	11	19	6	5	0	3	1	1	0	2	1	3	1	3	1	0	0	1	2	0	0	8	10			TCGA-V1-A9O9-01A-11D-A41K-08	TCGA-V1-A9O9-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcad0c26-dab3-4bf0-9ef6-a5be33131a61	8636a67d-a41b-4d6d-ad70-2f28e9aeda6e	g.chr10:92655210G>C	ENST00000371703.3	+	8	820		c.e8-1		RPP30_ENST00000413330.1_Splice_Site|RPP30_ENST00000489806.1_Splice_Site	NM_006413.4	NP_006404.1	P78346	RPP30_HUMAN	ribonuclease P/MRP 30kDa subunit						RNA phosphodiester bond hydrolysis (GO:0090501)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|tRNA processing (GO:0008033)	nucleolar ribonuclease P complex (GO:0005655)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|ribonuclease P activity (GO:0004526)			central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1)	8						CTATTTTGTAGAATGTAATTA	0.274																																						ENST00000413330.1																			0				central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1)	8						c.e8-1		ribonuclease P/MRP 30kDa subunit							72	81	78					10																	92655210		2189	4265	6454	SO:0001630	splice_region_variant	10556				tRNA processing	nucleolar ribonuclease P complex	protein binding|ribonuclease P activity	g.chr10:92655210G>C	BC006991	CCDS7411.1, CCDS44458.1	10q23.32-q23.33	2012-05-21			ENSG00000148688	ENSG00000148688			17688	protein-coding gene	gene with protein product		606115				9037013, 9308968	Standard	NM_006413		Approved	TSG15	uc001khd.2	P78346	OTTHUMG00000018733	ENST00000371703.3:c.550-1G>C	10.37:g.92655210G>C						RPP30_ENST00000489806.1_Splice_Site|RPP30_ENST00000371703.3_Splice_Site		NM_001104546.1	NP_001098016.1	P78346	RPP30_HUMAN			8	584	+								B2R799|E9PB02	Splice_Site	SNP	ENST00000371703.3	37		CCDS7411.1	.	.	.	.	.	.	.	.	.	.	G	16.55	3.154216	0.57259	.	.	ENSG00000148688	ENST00000371703;ENST00000413330;ENST00000277882	.	.	.	5.69	4.78	0.61160	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.5852	0.76475	0.0:0.1386:0.8613:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	RPP30	92645190	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	6.797000	0.75150	1.377000	0.46286	0.557000	0.71058	.		0.274	RPP30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049347.1	NM_006413	Intron	8	125	0	0	0	1	0	8	125					C	92655210	G	C	92655210	5	2	383	1	0	0	0	0	0	0	1	0	13612	956	33	5	579	5	RPP30	10	92655210	Splice_Site	SNP	G	TCGA-V1-A9O9-01A-11D-A41K-08	91783977	92655210	42879537	27	18846											
DPYSL4	10570	broad.mit.edu	37	chr10	134017271	134017271	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccacccccccggcagctggcGgagatccacggtgtgccccg	5	4	13	19	4	0	1	0	0	0	1	1	2	1	1	7	4	2	2	7	4	0	0			TCGA-V1-A9O9-01A-11D-A41K-08	TCGA-V1-A9O9-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcad0c26-dab3-4bf0-9ef6-a5be33131a61	8636a67d-a41b-4d6d-ad70-2f28e9aeda6e	g.chr10:134017271G>A	ENST00000338492.4	+	13	1631	c.1467G>A	c.(1465-1467)gcG>gcA	p.A489A	DPYSL4_ENST00000368629.1_Silent_p.A329A|DPYSL4_ENST00000368627.1_Silent_p.A329A	NM_006426.2	NP_006417.2	O14531	DPYL4_HUMAN	dihydropyrimidinase-like 4	489					axon guidance (GO:0007411)|nervous system development (GO:0007399)|pyrimidine nucleobase catabolic process (GO:0006208)	cytosol (GO:0005829)	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides (GO:0016812)			NS(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		all_cancers(35;4.33e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19)		OV - Ovarian serous cystadenocarcinoma(35;7.21e-05)|Epithelial(32;8.01e-05)|all cancers(32;9.29e-05)|BRCA - Breast invasive adenocarcinoma(275;0.206)		GGCAGCTGGCGGAGATCCACG	0.716																																						ENST00000338492.4																			0				NS(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32						c.(1465-1467)gcG>gcA		dihydropyrimidinase-like 4							30	33	32					10																	134017271		2202	4298	6500	SO:0001819	synonymous_variant	10570				axon guidance|pyrimidine base catabolic process	cytosol	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides	g.chr10:134017271G>A	AB006713	CCDS7665.1	10q25.2-q26	2008-05-14			ENSG00000151640	ENSG00000151640			3016	protein-coding gene	gene with protein product		608407				8973361, 9652388	Standard	NM_006426		Approved	ULIP4, DRP-4	uc009ybb.3	O14531	OTTHUMG00000019283	ENST00000338492.4:c.1467G>A	10.37:g.134017271G>A						DPYSL4_ENST00000368629.1_Silent_p.A329A|DPYSL4_ENST00000368627.1_Silent_p.A329A	p.A489A	NM_006426.2	NP_006417.2	O14531	DPYL4_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;7.21e-05)|Epithelial(32;8.01e-05)|all cancers(32;9.29e-05)|BRCA - Breast invasive adenocarcinoma(275;0.206)	13	1631	+		all_cancers(35;4.33e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19)	489					B2RMQ1|D3DRG5|O00240|Q5T0Q7	Silent	SNP	ENST00000338492.4	37	c.1467G>A	CCDS7665.1																																																																																				0.716	DPYSL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051050.2			3	34	0	0	0	1	0	3	34					A	134017271	G	A	134017271	2	1	383	1	0	0	0	0	0	0	0	1	4749	1103	39	2		2	DPYSL4	10	134017271	Silent	SNP	G	TCGA-V1-A9O9-01A-11D-A41K-08	41362061	134017271	1517476	28	18847											
OR5W2	390148	broad.mit.edu	37	chr11	55681766	55681766	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agaagaccaagaattgcagaGcacagccatagaagggtatt	17	6	11	7	0	0	5	0	0	0	5	0	5	0	5	2	1	3	3	2	1	6	4			TCGA-V1-A9O9-01A-11D-A41K-08	TCGA-V1-A9O9-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcad0c26-dab3-4bf0-9ef6-a5be33131a61	8636a67d-a41b-4d6d-ad70-2f28e9aeda6e	g.chr11:55681766G>T	ENST00000344514.1	-	1	292	c.293C>A	c.(292-294)gCt>gAt	p.A98D		NM_001001960.1	NP_001001960.1	Q8NH69	OR5W2_HUMAN	olfactory receptor, family 5, subfamily W, member 2	98						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(28)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						GAATTGCAGAGCACAGCCATA	0.473																																					Melanoma(48;171 1190 15239 43886 49348)	ENST00000344514.1																			0				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(28)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						c.(292-294)gCt>gAt		olfactory receptor, family 5, subfamily W, member 2							132	127	129					11																	55681766		2201	4296	6497	SO:0001583	missense	390148				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55681766G>T	BK004398	CCDS31513.1	11q11	2012-08-09		2004-03-10	ENSG00000187612	ENSG00000187612		"GPCR / Class A : Olfactory receptors"	15299	protein-coding gene	gene with protein product				OR5W2P, OR5W3P			Standard	NM_001001960		Approved		uc010rir.2	Q8NH69	OTTHUMG00000166818	ENST00000344514.1:c.293C>A	11.37:g.55681766G>T	ENSP00000342448:p.Ala98Asp						p.A98D	NM_001001960.1	NP_001001960.1	Q8NH69	OR5W2_HUMAN			1	292	-			98						Missense_Mutation	SNP	ENST00000344514.1	37	c.293C>A	CCDS31513.1	.	.	.	.	.	.	.	.	.	.	G	18.08	3.544412	0.65198	.	.	ENSG00000187612	ENST00000344514	T	0.00406	7.55	5.01	2.77	0.32553	GPCR, rhodopsin-like superfamily (1);	0.184941	0.26163	N	0.025974	T	0.00936	0.0031	M	0.92604	3.325	0.31371	N	0.680114	P	0.48694	0.914	P	0.52957	0.714	T	0.08006	-1.0743	10	0.72032	D	0.01	.	6.467	0.21987	0.3658:0.0:0.6342:0.0	.	98	Q8NH69	OR5W2_HUMAN	D	98	ENSP00000342448:A98D	ENSP00000342448:A98D	A	-	2	0	OR5W2	55438342	0.000000	0.05858	0.937000	0.37676	0.920000	0.55202	0.349000	0.20055	0.308000	0.22923	0.549000	0.68633	GCT		0.473	OR5W2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391523.1	NM_001001960		9	42	1	0	2.74318e-10	1	3.06215e-10	9	42					T	55681766	G	T	55681766	3	4	383	1	0	0	0	0	1	0	0	0	11185	971	34	5	641	5	OR5W2	11	55681766	Missense_Mutation	SNP	G	TCGA-V1-A9O9-01A-11D-A41K-08		55681766	79324750	29	18848											
OR5T2	219464	broad.mit.edu	37	chr11	56000622	56000622	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atgaacaacaccatgactcaAggggatgttaactgtgctct	13	10	9	9	0	2	2	1	2	1	0	2	3	2	3	1	2	4	2	1	2	4	1			TCGA-V1-A9O9-01A-11D-A41K-08	TCGA-V1-A9O9-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcad0c26-dab3-4bf0-9ef6-a5be33131a61	8636a67d-a41b-4d6d-ad70-2f28e9aeda6e	g.chr11:56000622A>T	ENST00000313264.4	-	1	115	c.40T>A	c.(40-42)Ttg>Atg	p.L14M		NM_001004746.1	NP_001004746.1	Q8NGG2	OR5T2_HUMAN	olfactory receptor, family 5, subfamily T, member 2	14						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(6)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(3)	41	Esophageal squamous(21;0.00448)					CCATGACTCAAGGGGATGTTA	0.358																																						ENST00000313264.4																			0				endometrium(6)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(3)	41						c.(40-42)Ttg>Atg		olfactory receptor, family 5, subfamily T, member 2							131	124	127					11																	56000622		2201	4295	6496	SO:0001583	missense	219464				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56000622A>T	AB065838	CCDS31523.1	11q11	2012-08-09			ENSG00000181718	ENSG00000181718		"GPCR / Class A : Olfactory receptors"	15296	protein-coding gene	gene with protein product							Standard	NM_001004746		Approved		uc010rjc.2	Q8NGG2	OTTHUMG00000166851	ENST00000313264.4:c.40T>A	11.37:g.56000622A>T	ENSP00000323688:p.Leu14Met						p.L14M	NM_001004746.1	NP_001004746.1	Q8NGG2	OR5T2_HUMAN			1	115	-	Esophageal squamous(21;0.00448)		14					B9EGX5|Q6IFC8	Missense_Mutation	SNP	ENST00000313264.4	37	c.40T>A	CCDS31523.1	.	.	.	.	.	.	.	.	.	.	A	6.663	0.490773	0.12702	.	.	ENSG00000181718	ENST00000313264	T	0.00768	5.72	2.57	0.0855	0.14442	.	.	.	.	.	T	0.00496	0.0016	N	0.08118	0	0.09310	N	1	P	0.44578	0.838	B	0.38562	0.276	T	0.51212	-0.8734	9	0.87932	D	0	.	2.9143	0.05748	0.485:0.24:0.275:0.0	.	14	Q8NGG2	OR5T2_HUMAN	M	14	ENSP00000323688:L14M	ENSP00000323688:L14M	L	-	1	2	OR5T2	55757198	0.000000	0.05858	0.000000	0.03702	0.040000	0.13550	-1.596000	0.02091	0.020000	0.15106	0.375000	0.23000	TTG		0.358	OR5T2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391598.1	NM_001004746		16	66	0	0	0	1	0	16	66					T	56000622	A	T	56000622	3	4	383	1	0	0	0	0	1	0	0	0	11182	69	3	5	1038	5	OR5T2	11	56000622	Missense_Mutation	SNP	A	TCGA-V1-A9O9-01A-11D-A41K-08	318856	56000622	79005894	30	18849											
FREM2	341640	broad.mit.edu	37	chr13	39435627	39435627	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agccgttctcagctaaattgCgctacacaggccctgaggat	10	9	10	12	2	1	1	1	1	1	0	2	2	1	2	2	2	4	3	2	2	3	4			TCGA-V1-A9O9-01A-11D-A41K-08	TCGA-V1-A9O9-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcad0c26-dab3-4bf0-9ef6-a5be33131a61	8636a67d-a41b-4d6d-ad70-2f28e9aeda6e	g.chr13:39435627C>A	ENST00000280481.7	+	15	7795	c.7579C>A	c.(7579-7581)Cgc>Agc	p.R2527S		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	2527					cell communication (GO:0007154)|homophilic cell adhesion (GO:0007156)|inner ear development (GO:0048839)|morphogenesis of an epithelium (GO:0002009)	basement membrane (GO:0005604)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		AGCTAAATTGCGCTACACAGG	0.458																																						ENST00000280481.7																			0				NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148						c.(7579-7581)Cgc>Agc		FRAS1 related extracellular matrix protein 2							151	124	133					13																	39435627		2203	4300	6503	SO:0001583	missense	341640				cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr13:39435627C>A	BX538150	CCDS31960.1	13q13.3	2004-12-15			ENSG00000150893	ENSG00000150893			25396	protein-coding gene	gene with protein product		608945				15345741	Standard	NM_207361		Approved	DKFZp686J0811	uc001uwv.3	Q5SZK8	OTTHUMG00000016759	ENST00000280481.7:c.7579C>A	13.37:g.39435627C>A	ENSP00000280481:p.Arg2527Ser						p.R2527S	NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)	15	7795	+		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)	2527					Q4QQG1|Q5H9N8|Q5T6Q1|Q6N057|Q6ZSB4|Q7Z305|Q7Z341	Missense_Mutation	SNP	ENST00000280481.7	37	c.7579C>A	CCDS31960.1	.	.	.	.	.	.	.	.	.	.	C	18.69	3.678172	0.68042	.	.	ENSG00000150893	ENST00000280481	T	0.20200	2.09	4.82	4.82	0.62117	.	0.000000	0.85682	D	0.000000	T	0.45975	0.1369	M	0.74546	2.27	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.91635	0.999;0.948	T	0.46978	-0.9152	10	0.87932	D	0	.	13.2605	0.60102	0.1587:0.8413:0.0:0.0	.	2527;2527	Q5SZK8-2;Q5SZK8	.;FREM2_HUMAN	S	2527	ENSP00000280481:R2527S	ENSP00000280481:R2527S	R	+	1	0	FREM2	38333627	1.000000	0.71417	1.000000	0.80357	0.373000	0.29922	4.684000	0.61686	2.368000	0.80403	0.655000	0.94253	CGC		0.458	FREM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044599.2	NM_207361		15	46	1	0	8.60227e-14	1	1.0071e-13	15	46					A	39435627	C	A	39435627	3	1	383	1	0	0	0	0	1	0	0	0	6045	768	27	5	7637	5	FREM2	13	39435627	Missense_Mutation	SNP	C	TCGA-V1-A9O9-01A-11D-A41K-08		39435627	75734251	31	18850											
EAPP	55837	broad.mit.edu	37	chr14	34993940	34993940	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	aagtgtggtcatgcaggcagGacaattcaagacagcatcac	14	7	11	9	0	3	1	3	0	0	1	3	2	3	2	0	3	2	3	0	3	3	1			TCGA-V1-A9O9-01A-11D-A41K-08	TCGA-V1-A9O9-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcad0c26-dab3-4bf0-9ef6-a5be33131a61	8636a67d-a41b-4d6d-ad70-2f28e9aeda6e	g.chr14:34993940G>A	ENST00000250454.3	-	5	625	c.544C>T	c.(544-546)Cct>Tct	p.P182S		NM_018453.3	NP_060923.2	Q56P03	EAPP_HUMAN	E2F-associated phosphoprotein	182					negative regulation of transcription elongation from RNA polymerase II promoter (GO:0034244)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)				breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|urinary_tract(2)	12	Breast(36;0.0473)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00342)|Epithelial(34;0.18)	GBM - Glioblastoma multiforme(112;0.0196)		ATGCAGGCAGGACAATTCAAG	0.423																																						ENST00000250454.3																			0				breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|urinary_tract(2)	12						c.(544-546)Cct>Tct		E2F-associated phosphoprotein							143	137	139					14																	34993940		2052	4209	6261	SO:0001583	missense	55837				negative regulation of transcription elongation from RNA polymerase II promoter|positive regulation of cell proliferation|positive regulation of transcription elongation from RNA polymerase II promoter	Golgi apparatus|nucleus|plasma membrane		g.chr14:34993940G>A	AF217512	CCDS41941.1	14q13	2007-03-26	2007-03-26	2007-03-26		ENSG00000129518			19312	protein-coding gene	gene with protein product		609486	"chromosome 14 open reading frame 11"	C14orf11		15716352	Standard	NM_018453		Approved	BM036, FLJ20578	uc001wsd.1	Q56P03		ENST00000250454.3:c.544C>T	14.37:g.34993940G>A	ENSP00000250454:p.Pro182Ser						p.P182S	NM_018453.3	NP_060923.2	Q56P03	EAPP_HUMAN	LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00342)|Epithelial(34;0.18)	GBM - Glioblastoma multiforme(112;0.0196)	5	625	-	Breast(36;0.0473)|Hepatocellular(127;0.158)		182					Q9BVF4|Q9NWV5|Q9NZ86	Missense_Mutation	SNP	ENST00000250454.3	37	c.544C>T	CCDS41941.1	.	.	.	.	.	.	.	.	.	.	G	26.7	4.764034	0.89932	.	.	ENSG00000129518	ENST00000250454;ENST00000554792	T;T	0.49432	0.78;0.78	5.49	5.49	0.81192	.	0.000000	0.85682	D	0.000000	T	0.75228	0.3821	M	0.89601	3.045	0.80722	D	1	D	0.69078	0.997	D	0.70016	0.967	T	0.78114	-0.2330	10	0.49607	T	0.09	-14.1141	19.7607	0.96316	0.0:0.0:1.0:0.0	.	182	Q56P03	EAPP_HUMAN	S	182;161	ENSP00000250454:P182S;ENSP00000450908:P161S	ENSP00000250454:P182S	P	-	1	0	EAPP	34063691	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.505000	0.90515	2.756000	0.94617	0.561000	0.74099	CCT		0.423	EAPP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409847.1	NM_018453		3	59	0	0	0	1	0	3	59					A	34993940	G	A	34993940	3	1	383	1	0	0	0	0	1	0	0	0	4877	1174	41	3	321	3	EAPP	14	34993940	Missense_Mutation	SNP	G	TCGA-V1-A9O9-01A-11D-A41K-08		34993940	72355600	32	18851											
UBR7	55148	broad.mit.edu	37	chr14	93684909	93684909	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgaggatgatggattggtgcGgaacattgatggaataggtg	11	11	17	2	1	0	3	0	3	0	0	0	7	0	7	0	6	2	0	0	6	3	3	rs372446489		TCGA-V1-A9O9-01A-11D-A41K-08	TCGA-V1-A9O9-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcad0c26-dab3-4bf0-9ef6-a5be33131a61	8636a67d-a41b-4d6d-ad70-2f28e9aeda6e	g.chr14:93684909G>A	ENST00000013070.6	+	7	874	c.638G>A	c.(637-639)cGg>cAg	p.R213Q	UBR7_ENST00000416753.1_Missense_Mutation_p.R137Q|RP11-371E8.4_ENST00000557048.1_3'UTR	NM_175748.3	NP_786924.2	Q8N806	UBR7_HUMAN	ubiquitin protein ligase E3 component n-recognin 7 (putative)	213							ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|large_intestine(2)|lung(12)|urinary_tract(1)	19						GGATTGGTGCGGAACATTGAT	0.393																																						ENST00000013070.6																			0				breast(2)|endometrium(2)|large_intestine(2)|lung(12)|urinary_tract(1)	19						c.(637-639)cGg>cAg		ubiquitin protein ligase E3 component n-recognin 7 (putative)		G	GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	99	87	91		638	1.1	1	14		91	0,8600		0,0,4300	no	missense	UBR7	NM_175748.3	43	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	213/426	93684909	1,13005	2203	4300	6503	SO:0001583	missense	55148						ubiquitin-protein ligase activity|zinc ion binding	g.chr14:93684909G>A	AK001345	CCDS9909.1	14q32.12	2008-06-23	2008-06-23	2008-06-23		ENSG00000012963		"Ubiquitin protein ligase E3 component n-recognins"	20344	protein-coding gene	gene with protein product		613816	"chromosome 14 open reading frame 130"	C14orf130		18162545	Standard	NM_175748		Approved		uc001ybm.4	Q8N806		ENST00000013070.6:c.638G>A	14.37:g.93684909G>A	ENSP00000013070:p.Arg213Gln					UBR7_ENST00000416753.1_Missense_Mutation_p.R137Q|RP11-371E8.4_ENST00000557048.1_3'UTR	p.R213Q	NM_175748.3	NP_786924.2	Q8N806	UBR7_HUMAN			7	874	+			213					Q86U21|Q86UA9|Q96BY0|Q9NVV6	Missense_Mutation	SNP	ENST00000013070.6	37	c.638G>A	CCDS9909.1	.	.	.	.	.	.	.	.	.	.	G	8.764	0.924363	0.18056	2.27E-4	0.0	ENSG00000012963	ENST00000013070;ENST00000535646;ENST00000416753;ENST00000556871	T;T	0.76186	-0.99;-1.0	6.07	1.12	0.20585	.	0.761213	0.12695	N	0.446879	T	0.41026	0.1141	N	0.08118	0	0.20638	N	0.999875	B;B	0.33940	0.433;0.001	B;B	0.10450	0.005;0.0	T	0.22626	-1.0211	10	0.13470	T	0.59	-0.3848	2.4677	0.04557	0.1142:0.1384:0.1426:0.6048	.	137;213	E9PCJ7;Q8N806	.;UBR7_HUMAN	Q	213;137;137;116	ENSP00000013070:R213Q;ENSP00000391706:R137Q	ENSP00000013070:R213Q	R	+	2	0	UBR7	92754662	0.967000	0.33354	0.977000	0.42913	0.325000	0.28411	0.999000	0.29757	-0.034000	0.13713	-0.145000	0.13849	CGG		0.393	UBR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412693.1	NM_175748		3	51	0	0	0	1	0	3	51					A	93684909	G	A	93684909	3	1	383	1	0	0	0	0	1	0	0	0	16903	1116	39	2	664	2	UBR7	14	93684909	Missense_Mutation	SNP	G	TCGA-V1-A9O9-01A-11D-A41K-08	58690969	93684909	13664631	33	18852											
FBN1	2200	broad.mit.edu	37	chr15	48773910	48773910	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atatcacagtggcagataaaTgagcctttcgtgttttcaca	12	13	8	8	1	2	2	2	1	0	1	3	2	2	2	1	1	1	2	1	1	3	5			TCGA-V1-A9O9-01A-11D-A41K-08	TCGA-V1-A9O9-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcad0c26-dab3-4bf0-9ef6-a5be33131a61	8636a67d-a41b-4d6d-ad70-2f28e9aeda6e	g.chr15:48773910T>C	ENST00000316623.5	-	32	4361	c.3906A>G	c.(3904-3906)tcA>tcG	p.S1302S		NM_000138.4	NP_000129	P35555	FBN1_HUMAN	fibrillin 1	1302	EGF-like 21; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|kidney development (GO:0001822)|sequestering of BMP in extracellular matrix (GO:0035582)|sequestering of TGFbeta in extracellular matrix (GO:0035583)|skeletal system development (GO:0001501)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		GGCAGATAAATGAGCCTTTCG	0.363																																						ENST00000316623.5																			0				NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139						c.(3904-3906)tcA>tcG		fibrillin 1							138	139	139					15																	48773910		2198	4296	6494	SO:0001819	synonymous_variant	2200				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding	g.chr15:48773910T>C	X63556	CCDS32232.1	15q21.1	2014-09-17	2006-04-25			ENSG00000166147			3603	protein-coding gene	gene with protein product	"Marfan syndrome"	134797	"fibrillin 1 (Marfan syndrome)"	FBN, MFS1, WMS		10036187, 12525539	Standard	NM_000138		Approved	MASS, OCTD, SGS	uc001zwx.2	P35555		ENST00000316623.5:c.3906A>G	15.37:g.48773910T>C							p.S1302S	NM_000138.4	NP_000129.3	P35555	FBN1_HUMAN		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)	32	4361	-		all_lung(180;0.00279)	1302			EGF-like 21; calcium-binding.		B2RUU0|D2JYH6|Q15972|Q75N87	Silent	SNP	ENST00000316623.5	37	c.3906A>G	CCDS32232.1																																																																																				0.363	FBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417355.1			26	93	0	0	0	1	0	26	93					C	48773910	T	C	48773910	2	2	383	1	0	0	0	0	0	0	0	1	5702	1451	51	4		4	FBN1	15	48773910	Silent	SNP	T	TCGA-V1-A9O9-01A-11D-A41K-08		48773910	53757482	34	18853											
MAN2A2	4122	broad.mit.edu	37	chr15	91449677	91449677	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggccaattcccactactttgCattgattgaccagctcatcg	9	12	7	13	1	1	2	1	2	0	0	3	2	2	2	3	1	3	2	3	1	2	5			TCGA-V1-A9O9-01A-11D-A41K-08	TCGA-V1-A9O9-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcad0c26-dab3-4bf0-9ef6-a5be33131a61	8636a67d-a41b-4d6d-ad70-2f28e9aeda6e	g.chr15:91449677C>T	ENST00000559717.1	+	6	1244	c.785C>T	c.(784-786)gCa>gTa	p.A262V	MAN2A2_ENST00000431652.2_5'Flank|MAN2A2_ENST00000360468.3_Missense_Mutation_p.A262V			P49641	MA2A2_HUMAN	mannosidase, alpha, class 2A, member 2	262					cellular protein metabolic process (GO:0044267)|mannose metabolic process (GO:0006013)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|hydrolase activity, hydrolyzing N-glycosyl compounds (GO:0016799)|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity (GO:0004572)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.229)			CACTACTTTGCATTGATTGAC	0.557																																						ENST00000360468.3																			0				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47						c.(784-786)gCa>gTa		mannosidase, alpha, class 2A, member 2							125	114	118					15																	91449677		2198	4298	6496	SO:0001583	missense	4122				mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding	g.chr15:91449677C>T	L28821	CCDS32332.1	15q25	2011-06-30			ENSG00000196547	ENSG00000196547			6825	protein-coding gene	gene with protein product		600988				8524845	Standard	NM_006122		Approved	MANA2X, HsT19662	uc002bqc.3	P49641		ENST00000559717.1:c.785C>T	15.37:g.91449677C>T	ENSP00000452948:p.Ala262Val					MAN2A2_ENST00000559717.1_Missense_Mutation_p.A262V	p.A262V	NM_006122.2	NP_006113.2	P49641	MA2A2_HUMAN	Lung(145;0.229)		5	803	+	Lung NSC(78;0.0771)|all_lung(78;0.137)		262					A6NH12|A8K1E8|Q13754	Missense_Mutation	SNP	ENST00000559717.1	37	c.785C>T	CCDS32332.1	.	.	.	.	.	.	.	.	.	.	C	35	5.500848	0.96371	.	.	ENSG00000196547	ENST00000360468	T	0.26067	1.76	5.28	5.28	0.74379	Glycoside hydrolase/deacetylase, beta/alpha-barrel (1);Glycoside hydrolase, family 38, core (2);	0.000000	0.85682	D	0.000000	T	0.58192	0.2105	M	0.85299	2.745	0.80722	D	1	P;D	0.76494	0.918;0.999	P;D	0.83275	0.835;0.996	T	0.65158	-0.6236	10	0.87932	D	0	-20.35	18.9701	0.92711	0.0:1.0:0.0:0.0	.	262;262	P49641-1;P49641	.;MA2A2_HUMAN	V	262	ENSP00000353655:A262V	ENSP00000353655:A262V	A	+	2	0	MAN2A2	89250681	1.000000	0.71417	0.941000	0.38009	0.923000	0.55619	7.818000	0.86416	2.496000	0.84212	0.456000	0.33151	GCA		0.557	MAN2A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418246.5	NM_006122		7	35	0	0	0	1	0	7	35					T	91449677	C	T	91449677	3	4	383	1	0	0	0	0	1	0	0	0	9215	710	25	3	803	3	MAN2A2	15	91449677	Missense_Mutation	SNP	C	TCGA-V1-A9O9-01A-11D-A41K-08	42675767	91449677	11081715	35	18854											
CHD2	1106	broad.mit.edu	37	chr15	93545418	93545418	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtttcctaggatgatggcttGgaaaaaagtccaatgaaaaa	16	10	10	5	0	0	2	0	2	0	0	2	4	2	4	2	3	0	2	2	3	7	3			TCGA-V1-A9O9-01A-11D-A41K-08	TCGA-V1-A9O9-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcad0c26-dab3-4bf0-9ef6-a5be33131a61	8636a67d-a41b-4d6d-ad70-2f28e9aeda6e	g.chr15:93545418G>A	ENST00000394196.4	+	33	5217	c.4149G>A	c.(4147-4149)ttG>ttA	p.L1383L	CHD2_ENST00000557381.1_Silent_p.L1383L	NM_001271.3	NP_001262.3	O14647	CHD2_HUMAN	chromodomain helicase DNA binding protein 2	1383					cellular response to DNA damage stimulus (GO:0006974)|chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|hematopoietic stem cell differentiation (GO:0060218)|muscle organ development (GO:0007517)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|histone binding (GO:0042393)|poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	47	Lung NSC(78;0.00976)|all_lung(78;0.016)		BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)			ATGATGGCTTGGAAAAAAGTC	0.368																																						ENST00000394196.4																			0				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	47						c.(4147-4149)ttG>ttA		chromodomain helicase DNA binding protein 2							98	111	107					15																	93545418		2197	4298	6495	SO:0001819	synonymous_variant	1106				regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding	g.chr15:93545418G>A	AF006514	CCDS10374.2, CCDS45356.1	15q26	2008-07-18			ENSG00000173575	ENSG00000173575			1917	protein-coding gene	gene with protein product		602119				9326634	Standard	NM_001042572		Approved	FLJ38614, DKFZp547I1315, DKFZp781D1727, DKFZp686E01200	uc002bsp.3	O14647	OTTHUMG00000149845	ENST00000394196.4:c.4149G>A	15.37:g.93545418G>A						CHD2_ENST00000557381.1_Silent_p.L1383L	p.L1383L	NM_001271.3	NP_001262.3	O14647	CHD2_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)		33	5217	+	Lung NSC(78;0.00976)|all_lung(78;0.016)		1383					C6G482|Q96IP5	Silent	SNP	ENST00000394196.4	37	c.4149G>A	CCDS10374.2																																																																																				0.368	CHD2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000313528.3	NM_001271		5	115	0	0	0	1	0	5	115					A	93545418	G	A	93545418	2	1	383	1	0	0	0	0	0	0	0	1	3325	1339	47	3		3	CHD2	15	93545418	Silent	SNP	G	TCGA-V1-A9O9-01A-11D-A41K-08	2095741	93545418	8985974	36	18855											
ZSCAN10	84891	broad.mit.edu	37	chr16	3140425	3140425	+	Frame_Shift_Del	DEL	C	C	-																															ccggattgggctcggggacgCcctcagccactttgacctcc																										TCGA-V1-A9O9-01A-11D-A41K-08	TCGA-V1-A9O9-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcad0c26-dab3-4bf0-9ef6-a5be33131a61	8636a67d-a41b-4d6d-ad70-2f28e9aeda6e	g.chr16:3140425delC	ENST00000252463.2	-	5	932	c.845delG	c.(844-846)ggcfs	p.G282fs	ZSCAN10_ENST00000538082.2_Frame_Shift_Del_p.G200fs|ZSCAN10_ENST00000575108.1_5'UTR	NM_032805.1	NP_116194.1	Q96SZ4	ZSC10_HUMAN	zinc finger and SCAN domain containing 10	282					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|cervix(3)|endometrium(3)|kidney(1)|lung(8)|ovary(2)|prostate(1)|skin(4)|urinary_tract(1)	24						CTCGGGGACGCCCTCAGCCAC	0.657																																						ENST00000252463.2																			0				breast(1)|cervix(3)|endometrium(3)|kidney(1)|lung(8)|ovary(2)|prostate(1)|skin(4)|urinary_tract(1)	24						c.(844-846)gcfs		zinc finger and SCAN domain containing 10							71	74	73					16																	3140425		2181	4271	6452	SO:0001589	frameshift_variant	84891				negative regulation of transcription, DNA-dependent|viral reproduction	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr16:3140425delC	AA206569	CCDS10493.1, CCDS61813.1, CCDS61814.1	16p13.3	2013-01-08	2007-02-20	2007-02-20		ENSG00000130182		"-", "Zinc fingers, C2H2-type"	12997	protein-coding gene	gene with protein product			"zinc finger protein 206"	ZNF206		9653642	Standard	NM_032805		Approved		uc002ctv.1	Q96SZ4		ENST00000252463.2:c.845delG	16.37:g.3140425delC	ENSP00000252463:p.Gly282fs					ZSCAN10_ENST00000575108.1_5'UTR|ZSCAN10_ENST00000538082.2_Frame_Shift_Del_p.G200fs	p.G282fs	NM_032805.1	NP_116194.1	Q96SZ4	ZSC10_HUMAN			5	932	-			282					B3KQD3|H0YFS6|Q1WWM2	Frame_Shift_Del	DEL	ENST00000252463.2	37	c.845delG	CCDS10493.1																																																																																				0.657	ZSCAN10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437124.2	NM_032805		9	102						9	102	---	---	---	---	-	3140425	C	-	3140425	7	5	383	1	0	1	0	1	0	0	0	0	18224	739	26	0	1336	0	ZSCAN10	16	3140425	Frame_Shift_Del	DEL	C	TCGA-V1-A9O9-01A-11D-A41K-08		3140425	87214328	37	18856											
ZNF423	23090	broad.mit.edu	37	chr16	49670758	49670758	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcccaggtggctgtgtttgaCgtgcacctgcaggtcagcct	5	10	14	12	1	1	1	1	1	0	0	1	1	1	1	3	3	3	4	3	3	0	1			TCGA-V1-A9O9-01A-11D-A41K-08	TCGA-V1-A9O9-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcad0c26-dab3-4bf0-9ef6-a5be33131a61	8636a67d-a41b-4d6d-ad70-2f28e9aeda6e	g.chr16:49670758C>T	ENST00000561648.1	-	4	2358	c.2305G>A	c.(2305-2307)Gtc>Atc	p.V769I	ZNF423_ENST00000563137.2_Missense_Mutation_p.V709I|ZNF423_ENST00000562871.1_Missense_Mutation_p.V709I|ZNF423_ENST00000262383.2_Missense_Mutation_p.V769I|ZNF423_ENST00000562520.1_Missense_Mutation_p.V709I|ZNF423_ENST00000567169.1_Missense_Mutation_p.V652I|ZNF423_ENST00000535559.1_Missense_Mutation_p.V652I	NM_001271620.1	NP_001258549.1	Q2M1K9	ZN423_HUMAN	zinc finger protein 423	769					cell differentiation (GO:0030154)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	89		all_cancers(37;0.0155)				CTGTGTTTGACGTGCACCTGC	0.607																																						ENST00000561648.1																			0				breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	89						c.(2305-2307)Gtc>Atc		zinc finger protein 423							133	116	122					16																	49670758		2198	4300	6498	SO:0001583	missense	23090				cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	g.chr16:49670758C>T	AB018303	CCDS32445.1, CCDS61930.1	16q12	2014-01-28				ENSG00000102935		"Zinc fingers, C2H2-type"	16762	protein-coding gene	gene with protein product	"OLF-1/EBF associated zinc finger gene", " Smad- and Olf-interacting zinc finger protein", "early B-cell factor associated zinc finger protein"	604557				9872452, 10660046	Standard	NM_001271620		Approved	KIAA0760, OAZ, Roaz, Ebfaz, Zfp104, NPHP14, JBTS19	uc031qwd.1	Q2M1K9		ENST00000561648.1:c.2305G>A	16.37:g.49670758C>T	ENSP00000455426:p.Val769Ile					ZNF423_ENST00000262383.2_Missense_Mutation_p.V769I|ZNF423_ENST00000563137.2_Missense_Mutation_p.V709I|ZNF423_ENST00000535559.1_Missense_Mutation_p.V652I|ZNF423_ENST00000567169.1_Missense_Mutation_p.V652I|ZNF423_ENST00000562871.1_Missense_Mutation_p.V709I|ZNF423_ENST00000562520.1_Missense_Mutation_p.V709I	p.V769I	NM_001271620.1	NP_001258549.1	Q2M1K9	ZN423_HUMAN			4	2358	-		all_cancers(37;0.0155)	769					O94860|Q76N04|Q9NZ13	Missense_Mutation	SNP	ENST00000561648.1	37	c.2305G>A	CCDS32445.1	.	.	.	.	.	.	.	.	.	.	C	16.22	3.062533	0.55432	.	.	ENSG00000102935	ENST00000262383;ENST00000535559	T;T	0.08984	3.03;3.05	4.81	4.81	0.61882	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);	0.061993	0.64402	D	0.000004	T	0.19604	0.0471	L	0.33668	1.02	0.52501	D	0.999954	D	0.76494	0.999	D	0.79784	0.993	T	0.02942	-1.1091	9	.	.	.	-38.336	17.8857	0.88854	0.0:1.0:0.0:0.0	.	769	Q2M1K9	ZN423_HUMAN	I	769;652	ENSP00000262383:V769I;ENSP00000442321:V652I	.	V	-	1	0	ZNF423	48228259	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	5.999000	0.70665	2.234000	0.73211	0.561000	0.74099	GTC		0.607	ZNF423-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000423258.1	NM_015069		3	31	0	0	0	1	0	3	31					T	49670758	C	T	49670758	3	4	383	1	0	0	0	0	1	0	0	0	17895	536	19	1	1569	1	ZNF423	16	49670758	Missense_Mutation	SNP	C	TCGA-V1-A9O9-01A-11D-A41K-08	46530333	49670758	40683995	38	18857											
B3GNT9	80262	broad.mit.edu	37	chr16	67183794	67183794	+	IGR	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cgttaggttaaaaaaggtgtCgtcgaaggcccagagcagga	13	7	14	7	3	0	1	0	0	0	1	2	3	0	2	1	4	1	3	1	4	5	2			TCGA-V1-A9O9-01A-11D-A41K-08	TCGA-V1-A9O9-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcad0c26-dab3-4bf0-9ef6-a5be33131a61	8636a67d-a41b-4d6d-ad70-2f28e9aeda6e	g.chr16:67183794C>T	ENST00000219139.3	+	0	2865				B3GNT9_ENST00000449549.3_Missense_Mutation_p.D199N	NM_025187.3	NP_079463.2	Q9BSU1	CP070_HUMAN	chromosome 16 open reading frame 70											cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(3)|skin(1)	17		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0017)|Epithelial(162;0.00655)|all cancers(182;0.0579)		AAAAAGGTGTCGTCGAAGGCC	0.622																																						ENST00000449549.3																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)	6						c.(595-597)Gac>Aac		UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 9							37	39	38					16																	67183794		2018	4187	6205	SO:0001628	intergenic_variant	84752				protein glycosylation	Golgi membrane|integral to membrane	galactosyltransferase activity	g.chr16:67183794C>T	AK022138	CCDS10828.1	16q22.1	2011-01-25	2006-04-12	2006-04-12	ENSG00000125149	ENSG00000125149			29564	protein-coding gene	gene with protein product			"chromosome 16 open reading frame 6"	C16orf6, LIN10		12477932	Standard	NM_025187		Approved	lin-10, FLJ12076	uc002erd.3	Q9BSU1	OTTHUMG00000137510		16.37:g.67183794C>T							p.D199N	NM_033309.2	NP_171608.2	Q6UX72	B3GN9_HUMAN			2	1130	-			199					Q9HA86	Missense_Mutation	SNP	ENST00000219139.3	37	c.595G>A	CCDS10828.1	.	.	.	.	.	.	.	.	.	.	c	36	5.606646	0.96626	.	.	ENSG00000237172	ENST00000449549	T	0.60299	0.2	4.74	4.74	0.60224	.	.	.	.	.	T	0.82015	0.4945	M	0.94101	3.495	0.52099	D	0.999944	D	0.89917	1.0	D	0.91635	0.999	D	0.87440	0.2394	9	0.87932	D	0	-17.8211	16.3133	0.82905	0.0:1.0:0.0:0.0	.	199	Q6UX72	B3GN9_HUMAN	N	199	ENSP00000400157:D199N	ENSP00000400157:D199N	D	-	1	0	B3GNT9	65741295	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.715000	0.84713	2.188000	0.69820	0.556000	0.70494	GAC		0.622	C16orf70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268829.2	NM_025187		3	17	0	0	0	1	0	3	17					T	67183794	C	T	67183794	1	4	383	0	1	0	0	0	0	0	0	0	1264	884	31	2		2	B3GNT9	16	67183794	IGR	SNP	C	TCGA-V1-A9O9-01A-11D-A41K-08	17513036	67183794	23170959	39	18858											
LSMD1	84316	broad.mit.edu	37	chr17	7760441	7760441	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atctgtcatgcgaatgcgcaTagtcttgttgagcagcgcct	8	12	11	10	3	3	1	1	1	2	0	3	2	3	1	1	0	4	3	1	0	2	3			TCGA-V1-A9O9-01A-11D-A41K-08	TCGA-V1-A9O9-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcad0c26-dab3-4bf0-9ef6-a5be33131a61	8636a67d-a41b-4d6d-ad70-2f28e9aeda6e	g.chr17:7760441T>C	ENST00000335155.5	-	2	156	c.157A>G	c.(157-159)Atg>Gtg	p.M53V	LSMD1_ENST00000570555.1_5'Flank|CYB5D1_ENST00000571846.1_5'Flank|LSMD1_ENST00000576861.1_Missense_Mutation_p.M27V|LSMD1_ENST00000576384.1_Start_Codon_SNP_p.M1V|CYB5D1_ENST00000570446.1_5'Flank|LSMD1_ENST00000575208.1_Start_Codon_SNP_p.M1V|CYB5D1_ENST00000332439.4_5'Flank|LSMD1_ENST00000333775.5_Missense_Mutation_p.M101V|LSMD1_ENST00000575071.1_Start_Codon_SNP_p.M1V|LSMD1_ENST00000575771.1_Start_Codon_SNP_p.M1V			Q9BRA0	LSMD1_HUMAN		53					negative regulation of apoptotic process (GO:0043066)	cytoplasm (GO:0005737)|NatC complex (GO:0031417)|nucleus (GO:0005634)				endometrium(1)|lung(2)|ovary(1)	4		all_cancers(10;0.11)|Prostate(122;0.219)				CGAATGCGCATAGTCTTGTTG	0.622											OREG0024146	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									GBM(66;626 1401 29924 42527)	ENST00000333775.5																			0				endometrium(1)|lung(2)|ovary(1)	4						c.(301-303)Atg>Gtg		LSM domain containing 1							112	111	111					17																	7760441		2203	4300	6503	SO:0001583	missense	84316					cytoplasm|nucleus		g.chr17:7760441T>C																												ENST00000335155.5:c.157A>G	17.37:g.7760441T>C	ENSP00000335611:p.Met53Val		OREG0024146	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	644	LSMD1_ENST00000576861.1_Missense_Mutation_p.M27V|LSMD1_ENST00000335155.5_Missense_Mutation_p.M53V|LSMD1_ENST00000576384.1_Start_Codon_SNP_p.M1V|LSMD1_ENST00000575771.1_Start_Codon_SNP_p.M1V|LSMD1_ENST00000575071.1_Start_Codon_SNP_p.M1V|LSMD1_ENST00000575208.1_Start_Codon_SNP_p.M1V	p.M101V	NM_032356.3	NP_115732.2	Q9BRA0	LSMD1_HUMAN			1	731	-		all_cancers(10;0.11)|Prostate(122;0.219)	53					Q8N4M0	Missense_Mutation	SNP	ENST00000335155.5	37	c.301A>G		.	.	.	.	.	.	.	.	.	.	T	17.97	3.518697	0.64634	.	.	ENSG00000183011	ENST00000333775;ENST00000335155	T;T	0.18960	2.18;2.18	5.39	5.39	0.77823	Like-Sm ribonucleoprotein (LSM) domain, eukaryotic/archaea-type (1);Like-Sm ribonucleoprotein (LSM) domain (1);Like-Sm ribonucleoprotein (LSM)-related domain (1);	0.000000	0.85682	D	0.000000	T	0.15825	0.0381	N	0.16708	0.43	0.58432	D	0.999996	B;B	0.20887	0.04;0.049	B;B	0.26416	0.041;0.069	T	0.05801	-1.0863	10	0.41790	T	0.15	-14.5337	14.3866	0.66949	0.0:0.0:0.0:1.0	.	101;53	Q9BRA0-2;Q9BRA0	.;LSMD1_HUMAN	V	101;53	ENSP00000332103:M101V;ENSP00000335611:M53V	ENSP00000332103:M101V	M	-	1	0	LSMD1	7701166	1.000000	0.71417	0.997000	0.53966	0.959000	0.62525	4.312000	0.59154	2.054000	0.61138	0.368000	0.22195	ATG		0.622	LSMD1-201	KNOWN	basic|appris_principal	protein_coding	protein_coding				6	88	0	0	0	1	0	6	88					C	7760441	T	C	7760441	3	2	383	1	0	0	0	0	1	0	0	0	9062	1406	49	4	228	4	LSMD1	17	7760441	Missense_Mutation	SNP	T	TCGA-V1-A9O9-01A-11D-A41K-08		7760441	73434769	40	18859											
RNF213	57674	broad.mit.edu	37	chr17	78286955	78286955	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggtgcctcattcacatacgtCaaggaaattgaggtaggcat	12	10	11	8	1	3	1	3	1	0	0	3	2	3	2	1	4	2	2	1	4	4	4			TCGA-V1-A9O9-01A-11D-A41K-08	TCGA-V1-A9O9-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcad0c26-dab3-4bf0-9ef6-a5be33131a61	8636a67d-a41b-4d6d-ad70-2f28e9aeda6e	g.chr17:78286955C>T	ENST00000582970.1	+	15	2942	c.2799C>T	c.(2797-2799)gtC>gtT	p.V933V	CTD-2047H16.2_ENST00000576808.1_RNA|RNF213_ENST00000456466.1_Silent_p.V933V|RNF213_ENST00000508628.2_Silent_p.V982V|RNF213_ENST00000319921.4_Silent_p.V933V	NM_001256071.1	NP_001243000.1	Q63HN8	RN213_HUMAN	ring finger protein 213	933					ATP catabolic process (GO:0006200)|protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATPase activity (GO:0016887)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			TCACATACGTCAAGGAAATTG	0.498																																						ENST00000582970.1																			0				NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130						c.(2797-2799)gtC>gtT		ring finger protein 213							118	117	117					17																	78286955		2203	4300	6503	SO:0001819	synonymous_variant	57674							g.chr17:78286955C>T	AK074030	CCDS58606.1	17q25.3	2013-01-09	2007-02-08	2007-02-08		ENSG00000173821		"RING-type (C3HC4) zinc fingers"	14539	protein-coding gene	gene with protein product		613768	"chromosome 17 open reading frame 27", "KIAA1618", "moyamoya disease 2", "Moyamoya disease 2"	C17orf27, KIAA1618, MYMY2		10997877, 21048783, 21799892	Standard	NM_020954		Approved	KIAA1554, NET57	uc021uen.2	Q63HN8		ENST00000582970.1:c.2799C>T	17.37:g.78286955C>T						RNF213_ENST00000319921.4_Silent_p.V933V|RNF213_ENST00000508628.2_Silent_p.V982V|RNF213_ENST00000456466.1_Silent_p.V933V	p.V933V	NM_001256071.1	NP_001243000.1	Q9HCF4	ALO17_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)		15	2942	+	all_neural(118;0.0538)		933					C9JCP4|D6RI12|F8WKS1|Q658P6|Q69YK7|Q6MZR1|Q8IWF4|Q8IZX1|Q8IZX2|Q8N406|Q8TEU0|Q9H6C9|Q9H6H9|Q9H6P3|Q9H8A9|Q9HCF4|Q9HCL8	Silent	SNP	ENST00000582970.1	37	c.2799C>T	CCDS58606.1																																																																																				0.498	RNF213-020	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000443298.1	NM_020914		10	86	0	0	0	1	0	10	86					T	78286955	C	T	78286955	2	4	383	1	0	0	0	0	0	0	0	1	13477	813	29	3		3	RNF213	17	78286955	Silent	SNP	C	TCGA-V1-A9O9-01A-11D-A41K-08	70526514	78286955	2908255	41	18860											
MYH14	79784	broad.mit.edu	37	chr19	50752255	50752255	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtcccacaggctgacttcgcGctggaggccctggccaaggc	6	6	14	15	2	0	1	0	1	0	0	2	2	1	2	3	5	0	2	3	5	1	1			TCGA-V1-A9O9-01A-11D-A41K-08	TCGA-V1-A9O9-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcad0c26-dab3-4bf0-9ef6-a5be33131a61	8636a67d-a41b-4d6d-ad70-2f28e9aeda6e	g.chr19:50752255G>A	ENST00000596571.1	+	11	1317	c.1317G>A	c.(1315-1317)gcG>gcA	p.A439A	MYH14_ENST00000425460.1_Silent_p.A447A|MYH14_ENST00000376970.2_Silent_p.A439A|MYH14_ENST00000601313.1_Silent_p.A447A|MYH14_ENST00000598205.1_Silent_p.A447A|MYH14_ENST00000440075.2_Silent_p.A447A|MYH14_ENST00000262269.8_Silent_p.A447A			Q7Z406	MYH14_HUMAN	myosin, heavy chain 14, non-muscle	439	Myosin motor.				actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|mitochondrion morphogenesis (GO:0070584)|neuronal action potential (GO:0019228)|regulation of cell shape (GO:0008360)|sensory perception of sound (GO:0007605)|skeletal muscle atrophy (GO:0014732)|skeletal muscle contraction (GO:0003009)|skeletal muscle tissue development (GO:0007519)|vocalization behavior (GO:0071625)	actomyosin (GO:0042641)|axon (GO:0030424)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|membrane (GO:0016020)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|stress fiber (GO:0001725)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	46		all_neural(266;0.0571)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195)		CTGACTTCGCGCTGGAGGCCC	0.687																																						ENST00000440075.2																			0				central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	46						c.(1339-1341)gcG>gcA		myosin, heavy chain 14, non-muscle							22	26	25					19																	50752255		2115	4244	6359	SO:0001819	synonymous_variant	79784				axon guidance|regulation of cell shape	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	g.chr19:50752255G>A	AY165122	CCDS46151.1, CCDS54295.1, CCDS59411.1	19q13.33	2011-09-27	2009-11-19			ENSG00000105357		"Myosins / Myosin superfamily : Class II"	23212	protein-coding gene	gene with protein product		608568	"myosin, heavy polypeptide 14", "myosin, heavy chain 14"	DFNA4		12909352, 15015131, 17940200	Standard	NM_024729		Approved	FLJ13881, KIAA2034, MHC16, MYH17	uc010enu.1	Q7Z406		ENST00000596571.1:c.1317G>A	19.37:g.50752255G>A						MYH14_ENST00000601313.1_Silent_p.A447A|MYH14_ENST00000598205.1_Silent_p.A447A|MYH14_ENST00000596571.1_Silent_p.A439A|MYH14_ENST00000425460.1_Silent_p.A447A|MYH14_ENST00000376970.2_Silent_p.A439A|MYH14_ENST00000262269.8_Silent_p.A447A	p.A447A			Q7Z406	MYH14_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195)	13	1388	+		all_neural(266;0.0571)|Ovarian(192;0.0728)	439			Myosin head-like.		B0I1S2|C3TTN4|Q5CZ75|Q6XYE4|Q76B62|Q8WV23|Q96I22|Q9BT27|Q9BW35|Q9H882	Silent	SNP	ENST00000596571.1	37	c.1341G>A	CCDS59411.1																																																																																				0.687	MYH14-008	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000464710.2	NM_024729		3	17	0	0	0	1	0	3	17					A	50752255	G	A	50752255	2	1	383	1	0	0	0	0	0	0	0	1	10033	1074	38	1		1	MYH14	19	50752255	Silent	SNP	G	TCGA-V1-A9O9-01A-11D-A41K-08		50752255	8376728	42	18861											
NRIP1	8204	broad.mit.edu	37	chr21	16339835	16339835	+	Frame_Shift_Del	DEL	T	T	-																															cggttcactcatgacctttgTtccactttgtccaacatgat																										TCGA-V1-A9O9-01A-11D-A41K-08	TCGA-V1-A9O9-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcad0c26-dab3-4bf0-9ef6-a5be33131a61	8636a67d-a41b-4d6d-ad70-2f28e9aeda6e	g.chr21:16339835delT	ENST00000400202.1	-	3	1391	c.679delA	c.(679-681)acafs	p.T227fs	NRIP1_ENST00000318948.4_Frame_Shift_Del_p.T227fs|NRIP1_ENST00000400199.1_Frame_Shift_Del_p.T227fs			P48552	NRIP1_HUMAN	nuclear receptor interacting protein 1	227	Interaction with ZNF366.|Repression domain 1.				androgen receptor signaling pathway (GO:0030521)|lipid storage (GO:0019915)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|ovarian follicle rupture (GO:0001543)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|histone deacetylase complex (GO:0000118)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|estrogen receptor binding (GO:0030331)|glucocorticoid receptor binding (GO:0035259)|nuclear hormone receptor binding (GO:0035257)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			cervix(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(13)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	39				Epithelial(23;1.19e-05)|all cancers(11;4.64e-05)|COAD - Colon adenocarcinoma(22;0.000232)|Colorectal(24;0.0006)|OV - Ovarian serous cystadenocarcinoma(11;0.00418)|Lung(58;0.199)|LUSC - Lung squamous cell carcinoma(23;0.24)		ATGACCTTTGTTCCACTTTGT	0.443																																						ENST00000400202.1																			0				cervix(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(13)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	39						c.(679-681)cafs		nuclear receptor interacting protein 1							189	161	170					21																	16339835		2203	4300	6503	SO:0001589	frameshift_variant	8204				androgen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		androgen receptor binding|estrogen receptor binding|glucocorticoid receptor binding|transcription coactivator activity|transcription corepressor activity	g.chr21:16339835delT	X84373	CCDS13568.1	21q11.2	2008-07-31			ENSG00000180530	ENSG00000180530			8001	protein-coding gene	gene with protein product	"receptor interacting protein 140", "nuclear factor RIP140"	602490				7641693, 9521594	Standard	NM_003489		Approved	RIP140	uc002yjx.2	P48552	OTTHUMG00000074323	ENST00000400202.1:c.679delA	21.37:g.16339835delT	ENSP00000383063:p.Thr227fs					NRIP1_ENST00000318948.4_Frame_Shift_Del_p.T227fs|NRIP1_ENST00000400199.1_Frame_Shift_Del_p.T227fs	p.T227fs			P48552	NRIP1_HUMAN		Epithelial(23;1.19e-05)|all cancers(11;4.64e-05)|COAD - Colon adenocarcinoma(22;0.000232)|Colorectal(24;0.0006)|OV - Ovarian serous cystadenocarcinoma(11;0.00418)|Lung(58;0.199)|LUSC - Lung squamous cell carcinoma(23;0.24)	3	1391	-			227			Repression domain 1.		Q8IWE8	Frame_Shift_Del	DEL	ENST00000400202.1	37	c.679delA	CCDS13568.1																																																																																				0.443	NRIP1-002	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157926.1	NM_003489		39	112						39	112	---	---	---	---	-	16339835	T	-	16339835	7	5	383	1	0	1	0	1	0	0	0	0	10652	1725	60	0	2801	0	NRIP1	21	16339835	Frame_Shift_Del	DEL	T	TCGA-V1-A9O9-01A-11D-A41K-08		16339835	31790060	43	18862											
MAGED1	9500	broad.mit.edu	37	chrX	51637410	51637410	+	Frame_Shift_Del	DEL	A	A	-																															ggacaggagccatggctcagAaaatggactgtggtgcgggc																										TCGA-V1-A9O9-01A-11D-A41K-08	TCGA-V1-A9O9-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcad0c26-dab3-4bf0-9ef6-a5be33131a61	8636a67d-a41b-4d6d-ad70-2f28e9aeda6e	g.chrX:51637410delA	ENST00000375722.1	+	2	262	c.10delA	c.(10-12)aaafs	p.K4fs	MAGED1_ENST00000326587.7_Frame_Shift_Del_p.K4fs|MAGED1_ENST00000375695.2_Frame_Shift_Del_p.K4fs|MAGED1_ENST00000375772.3_Frame_Shift_Del_p.K4fs|MAGED1_ENST00000494718.1_3'UTR			Q9Y5V3	MAGD1_HUMAN	melanoma antigen family D, 1	4					apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|circadian regulation of gene expression (GO:0032922)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of apoptotic process (GO:0042981)|regulation of circadian rhythm (GO:0042752)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	transcription coactivator activity (GO:0003713)			breast(1)|endometrium(4)|large_intestine(10)|lung(13)|ovary(3)|upper_aerodigestive_tract(1)	32	Ovarian(276;0.236)					CATGGCTCAGAAAATGGACTG	0.627										Multiple Myeloma(10;0.10)	OREG0019786	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000375695.2																			0				breast(1)|endometrium(4)|large_intestine(10)|lung(13)|ovary(3)|upper_aerodigestive_tract(1)	32						c.(10-12)aafs		melanoma antigen family D, 1							26	21	23					X																	51637410		2200	4295	6495	SO:0001589	frameshift_variant	9500				apoptosis|induction of apoptosis by extracellular signals|negative regulation of epithelial cell proliferation|nerve growth factor receptor signaling pathway|regulation of transcription, DNA-dependent	cytoplasm|plasma membrane|protein complex	protein binding	g.chrX:51637410delA	AF124440	CCDS14337.1, CCDS35279.1	Xp11.23	2008-08-01			ENSG00000179222	ENSG00000179222			6813	protein-coding gene	gene with protein product		300224				10409427	Standard	NM_006986		Approved	NRAGE, DLXIN-1	uc004dpn.3	Q9Y5V3	OTTHUMG00000021540	ENST00000375722.1:c.10delA	X.37:g.51637410delA	ENSP00000364874:p.Lys4fs	Multiple Myeloma(10;0.10)	OREG0019786	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	978	MAGED1_ENST00000326587.7_Frame_Shift_Del_p.K4fs|MAGED1_ENST00000494718.1_3'UTR|MAGED1_ENST00000375722.1_Frame_Shift_Del_p.K4fs|MAGED1_ENST00000375772.3_Frame_Shift_Del_p.K4fs	p.K4fs	NM_001005333.1	NP_001005333.1	Q9Y5V3	MAGD1_HUMAN			2	163	+	Ovarian(276;0.236)		0					Q5VSH6|Q8IZ84|Q8WY92|Q9H352|Q9HBT4|Q9UF36	Frame_Shift_Del	DEL	ENST00000375722.1	37	c.10delA	CCDS14337.1																																																																																				0.627	MAGED1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056593.1	NM_001005332		2	4						2	4	---	---	---	---	-	51637410	A	-	51637410	7	5	383	1	0	1	0	1	0	0	0	0	9183	247	9	0	12	0	MAGED1	23	51637410	Frame_Shift_Del	DEL	A	TCGA-V1-A9O9-01A-11D-A41K-08		51637410	103633150	44	18863											
DCAF12L1	139170	broad.mit.edu	37	chrX	125685734	125685734	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ctcccggctttccacaggtgGaagtagccgtccaaggacac	9	7	11	14	2	0	0	0	0	0	0	3	2	3	2	4	4	1	2	4	4	3	2			TCGA-V1-A9O9-01A-11D-A41K-08	TCGA-V1-A9O9-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcad0c26-dab3-4bf0-9ef6-a5be33131a61	8636a67d-a41b-4d6d-ad70-2f28e9aeda6e	g.chrX:125685734G>T	ENST00000371126.1	-	1	1100	c.858C>A	c.(856-858)ttC>ttA	p.F286L		NM_178470.4	NP_848565.2	Q5VU92	DC121_HUMAN	DDB1 and CUL4 associated factor 12-like 1	286								p.F286L(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(39)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68						TCCACAGGTGGAAGTAGCCGT	0.607																																						ENST00000371126.1																			1	Substitution - Missense(1)	p.F286L(1)	lung(1)	breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(39)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68						c.(856-858)ttC>ttA		DDB1 and CUL4 associated factor 12-like 1							54	52	53					X																	125685734		2203	4300	6503	SO:0001583	missense	139170							g.chrX:125685734G>T	BC035674	CCDS14610.1	Xq25	2013-01-09	2009-07-17	2009-07-17	ENSG00000198889	ENSG00000198889		"WD repeat domain containing"	29395	protein-coding gene	gene with protein product			"WD repeat domain 40B"	WDR40B		12477932	Standard	NM_178470		Approved	KIAA1892L	uc004eul.3	Q5VU92	OTTHUMG00000022353	ENST00000371126.1:c.858C>A	X.37:g.125685734G>T	ENSP00000360167:p.Phe286Leu						p.F286L	NM_178470.4	NP_848565.2	Q5VU92	DC121_HUMAN			1	1100	-			286					Q8IYK3	Missense_Mutation	SNP	ENST00000371126.1	37	c.858C>A	CCDS14610.1	.	.	.	.	.	.	.	.	.	.	G	15.49	2.847799	0.51164	.	.	ENSG00000198889	ENST00000371126	T	0.58940	0.3	3.9	2.14	0.27477	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.37715	N	0.001966	T	0.65186	0.2667	L	0.60455	1.87	0.30296	N	0.789938	D	0.69078	0.997	D	0.75020	0.985	T	0.60717	-0.7208	10	0.41790	T	0.15	.	5.8106	0.18463	0.2497:0.0:0.7503:0.0	.	286	Q5VU92	DC121_HUMAN	L	286	ENSP00000360167:F286L	ENSP00000360167:F286L	F	-	3	2	DCAF12L1	125513415	1.000000	0.71417	0.976000	0.42696	0.498000	0.33706	1.424000	0.34848	0.462000	0.27095	-0.511000	0.04467	TTC		0.607	DCAF12L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058186.1	NM_178470		12	29	1	0	1.5842e-08	1	1.72822e-08	12	29					T	125685734	G	T	125685734	3	4	383	1	0	0	0	0	1	0	0	0	4264	1165	41	5	537	5	DCAF12L1	23	125685734	Missense_Mutation	SNP	G	TCGA-V1-A9O9-01A-11D-A41K-08	74048324	125685734	29584826	45	18864											
ZIC3	7547	broad.mit.edu	37	chrX	136651109	136651109	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	aggctgtgacagacgctttgCcaacagcagcgaccgtaaga	12	6	12	11	3	0	3	0	1	0	2	0	4	0	3	2	1	4	4	2	1	2	2			TCGA-V1-A9O9-01A-11D-A41K-08	TCGA-V1-A9O9-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcad0c26-dab3-4bf0-9ef6-a5be33131a61	8636a67d-a41b-4d6d-ad70-2f28e9aeda6e	g.chrX:136651109C>T	ENST00000287538.5	+	2	1659	c.1109C>T	c.(1108-1110)gCc>gTc	p.A370V	ZIC3_ENST00000370606.3_Missense_Mutation_p.A370V|ZIC3_ENST00000478471.1_3'UTR	NM_003413.3	NP_003404.1	O60481	ZIC3_HUMAN	Zic family member 3	370					anterior/posterior pattern specification (GO:0009952)|cell differentiation (GO:0030154)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of left/right asymmetry in nervous system (GO:0035545)|determination of left/right symmetry (GO:0007368)|determination of liver left/right asymmetry (GO:0071910)|determination of pancreatic left/right asymmetry (GO:0035469)|heart looping (GO:0001947)|lung development (GO:0030324)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|large_intestine(3)|liver(1)|lung(18)|ovary(3)|soft_tissue(2)|urinary_tract(1)	37	Acute lymphoblastic leukemia(192;0.000127)					AGACGCTTTGCCAACAGCAGC	0.512																																						ENST00000287538.5																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|large_intestine(3)|liver(1)|lung(18)|ovary(3)|soft_tissue(2)|urinary_tract(1)	37						c.(1108-1110)gCc>gTc		Zic family member 3							206	185	192					X																	136651109		2203	4300	6503	SO:0001583	missense	7547				cell differentiation|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chrX:136651109C>T	AF028706	CCDS14663.1	Xq24-q27.1	2013-01-08	2011-05-19		ENSG00000156925	ENSG00000156925		"Zinc fingers, C2H2-type"	12874	protein-coding gene	gene with protein product		300265	"heterotaxy 1", "Zic family member 3 (odd-paired homolog, Drosophila)"	HTX1		8298651, 7747776	Standard	NM_003413		Approved	HTX, ZNF203	uc004fak.3	O60481	OTTHUMG00000022525	ENST00000287538.5:c.1109C>T	X.37:g.136651109C>T	ENSP00000287538:p.Ala370Val					ZIC3_ENST00000478471.1_3'UTR|ZIC3_ENST00000370606.3_Missense_Mutation_p.A370V	p.A370V	NM_003413.3	NP_003404.1	O60481	ZIC3_HUMAN			2	1659	+	Acute lymphoblastic leukemia(192;0.000127)		370					B2CNW4|Q14DE5|Q5JY75	Missense_Mutation	SNP	ENST00000287538.5	37	c.1109C>T	CCDS14663.1	.	.	.	.	.	.	.	.	.	.	C	34	5.386259	0.95967	.	.	ENSG00000156925	ENST00000287538;ENST00000370606	T;T	0.07800	3.16;3.16	5.74	5.74	0.90152	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.24005	0.0581	L	0.42245	1.32	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.00256	-1.1873	10	0.87932	D	0	.	17.7298	0.88374	0.0:1.0:0.0:0.0	.	370	O60481	ZIC3_HUMAN	V	370	ENSP00000287538:A370V;ENSP00000359638:A370V	ENSP00000287538:A370V	A	+	2	0	ZIC3	136478775	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.993000	0.70616	2.405000	0.81733	0.600000	0.82982	GCC		0.512	ZIC3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058526.1			4	171	0	0	0	1	0	4	171					T	136651109	C	T	136651109	3	4	383	1	0	0	0	0	1	0	0	0	17677	739	26	3	1115	3	ZIC3	23	136651109	Missense_Mutation	SNP	C	TCGA-V1-A9O9-01A-11D-A41K-08	10965375	136651109	18619451	46	18865											
GRHL1	29841	broad.mit.edu	37	chr2	10136062	10136062	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgactttgctgtccctcctTctaccaagctggcccggata	7	12	8	14	1	1	1	0	1	1	0	3	2	3	2	4	2	3	2	4	2	3	4			TCGA-V1-A9OA-01A-11D-A41K-08	TCGA-V1-A9OA-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47d4bed8-db46-45d2-8e56-de72205f011d	d84f00dc-8c0d-4a2a-99e3-836a59aba5b7	g.chr2:10136062T>G	ENST00000324907.9	+	13	1691	c.1555T>G	c.(1555-1557)Tct>Gct	p.S519A	GRHL1_ENST00000480736.1_5'UTR|GRHL1_ENST00000324883.5_Missense_Mutation_p.S330A|GRHL1_ENST00000405379.2_Missense_Mutation_p.S519A	NM_198182.2	NP_937825.2	Q9NZI5	GRHL1_HUMAN	grainyhead-like 1 (Drosophila)	519					cellular lipid metabolic process (GO:0044255)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)			cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	17	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.172)|OV - Ovarian serous cystadenocarcinoma(76;0.246)		TGTCCCTCCTTCTACCAAGCT	0.448																																						ENST00000324907.9																			0				cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	17						c.(1555-1557)Tct>Gct		grainyhead-like 1 (Drosophila)							160	163	162					2																	10136062		2203	4300	6503	SO:0001583	missense	29841				cellular lipid metabolic process|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Golgi apparatus|nucleus	DNA binding	g.chr2:10136062T>G	AF198489	CCDS33144.1, CCDS33144.2	2p25.2	2008-02-05	2005-07-11	2005-07-11	ENSG00000134317	ENSG00000134317			17923	protein-coding gene	gene with protein product		609786	"transcription factor CP2-like 2"	TFCP2L2		10644752, 12393799	Standard	NM_198182		Approved	LBP-32, MGR	uc002raa.3	Q9NZI5	OTTHUMG00000151704	ENST00000324907.9:c.1555T>G	2.37:g.10136062T>G	ENSP00000324693:p.Ser519Ala					GRHL1_ENST00000480736.1_5'UTR|GRHL1_ENST00000324883.5_Missense_Mutation_p.S330A|GRHL1_ENST00000405379.2_Missense_Mutation_p.S519A	p.S519A	NM_198182.2	NP_937825.2	Q9NZI5	GRHL1_HUMAN		Epithelial(75;0.172)|OV - Ovarian serous cystadenocarcinoma(76;0.246)	13	1691	+	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		519					A6NLA4|B2R7E4|B5MEC2|Q53T93|Q6NWN7|Q6NWN8|Q6NWN9|Q8NI33	Missense_Mutation	SNP	ENST00000324907.9	37	c.1555T>G	CCDS33144.2	.	.	.	.	.	.	.	.	.	.	T	6.611	0.481199	0.12581	.	.	ENSG00000134317	ENST00000405379;ENST00000324883;ENST00000324907	T;T;T	0.17854	2.73;2.25;2.73	6.03	-0.0261	0.13932	.	0.200542	0.53938	D	0.000051	T	0.07458	0.0188	N	0.11560	0.145	0.23848	N	0.996676	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.38735	-0.9647	10	0.16896	T	0.51	-8.3655	10.1576	0.42831	0.0:0.8259:0.0953:0.0787	.	330;519	Q9NZI5-2;Q9NZI5	.;GRHL1_HUMAN	A	519;330;519	ENSP00000384209:S519A;ENSP00000324494:S330A;ENSP00000324693:S519A	ENSP00000324494:S330A	S	+	1	0	GRHL1	10053513	0.547000	0.26465	0.003000	0.11579	0.038000	0.13279	1.295000	0.33377	-0.297000	0.08934	-0.899000	0.02877	TCT		0.448	GRHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323543.2	NM_014552		43	141	0	0	0	1	0	43	141					G	10136062	T	G	10136062	3	3	384	1	0	0	0	0	1	0	0	0	6763	1783	62	5	1605	5	GRHL1	2	10136062	Missense_Mutation	SNP	T	TCGA-V1-A9OA-01A-11D-A41K-08		10136062	233063311	1	18866											
DPP4	1803	broad.mit.edu	37	chr2	162865117	162865118	+	Frame_Shift_Ins	INS	-	-	G																															gccacggctattccacacttINSgaacacgccacttcccgatc																								rs199755074		TCGA-V1-A9OA-01A-11D-A41K-08	TCGA-V1-A9OA-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47d4bed8-db46-45d2-8e56-de72205f011d	d84f00dc-8c0d-4a2a-99e3-836a59aba5b7	g.chr2:162865117_162865118insG	ENST00000360534.3	-	22	2501_2502	c.1941_1942insC	c.(1939-1944)ttcaagfs	p.K648fs	DPP4_ENST00000491591.1_5'UTR	NM_001935.3	NP_001926.2	P27487	DPP4_HUMAN	dipeptidyl-peptidase 4	648					cell adhesion (GO:0007155)|endothelial cell migration (GO:0043542)|negative regulation of extracellular matrix disassembly (GO:0010716)|positive regulation of cell proliferation (GO:0008284)|regulation of cell-cell adhesion mediated by integrin (GO:0033632)|response to hypoxia (GO:0001666)|T cell activation (GO:0042110)|T cell costimulation (GO:0031295)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|endocytic vesicle (GO:0030139)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intercellular canaliculus (GO:0046581)|invadopodium membrane (GO:0071438)|lamellipodium (GO:0030027)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|plasma membrane (GO:0005886)	dipeptidyl-peptidase activity (GO:0008239)|identical protein binding (GO:0042802)|protease binding (GO:0002020)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	48					Alogliptin(DB06203)|Atorvastatin(DB01076)|Linagliptin(DB08882)|Liraglutide(DB06655)|Saxagliptin(DB06335)|Sitagliptin(DB01261)|Vildagliptin(DB04876)	ATTCCACACTTGAACACGCCAC	0.465																																						ENST00000360534.3																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	48						c.(1939-1944)ttagtgfs		dipeptidyl-peptidase 4	Sitagliptin(DB01261)																																			SO:0001589	frameshift_variant	1803				cell adhesion|endothelial cell migration|negative regulation of extracellular matrix disassembly|positive regulation of cell proliferation|proteolysis|regulation of cell-cell adhesion mediated by integrin|response to hypoxia|T cell activation|T cell costimulation	apical plasma membrane|cell surface|endocytic vesicle|extracellular region|integral to membrane|invadopodium membrane|lamellipodium membrane|membrane raft	aminopeptidase activity|dipeptidyl-peptidase activity|protease binding|protein homodimerization activity|receptor activity|receptor binding|serine-type endopeptidase activity	g.chr2:162865117_162865118insG	M74777	CCDS2216.1	2q24.2	2013-09-19	2008-08-01		ENSG00000197635	ENSG00000197635	3.4.14.5	"CD molecules"	3009	protein-coding gene	gene with protein product		102720	"dipeptidylpeptidase IV (CD26, adenosine deaminase complexing protein 2)", "adenosine deaminase complexing protein 2"	CD26, ADCP2		8101391	Standard	NM_001935		Approved	DPPIV	uc002ubz.3	P27487	OTTHUMG00000132056	ENST00000360534.3:c.1942dupC	2.37:g.162865118_162865118dupG	ENSP00000353731:p.Lys648fs					DPP4_ENST00000491591.1_5'UTR	p.LV647fs	NM_001935.3	NP_001926.2	P27487	DPP4_HUMAN			22	2501_2502	-			647					Q53TN1	Frame_Shift_Ins	INS	ENST00000360534.3	37	c.1941_1942insC	CCDS2216.1																																																																																				0.465	DPP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255079.2			30	70						30	70	---	---	---	---	G	162865118	-	G	162865117	7	5	384	1	0	1	1	0	0	0	0	0	4729	1821	63	0	378	0	DPP4	2	162865117	Frame_Shift_Ins	INS	-	TCGA-V1-A9OA-01A-11D-A41K-08	152729055	162865117	80334256	2	18867											
EPM2AIP1	9852	broad.mit.edu	37	chr3	37032769	37032769	+	Frame_Shift_Del	DEL	T	T	-																															ggattagattcatttctttcTctcacaaggtcatcccaacc																										TCGA-V1-A9OA-01A-11D-A41K-08	TCGA-V1-A9OA-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47d4bed8-db46-45d2-8e56-de72205f011d	d84f00dc-8c0d-4a2a-99e3-836a59aba5b7	g.chr3:37032769delT	ENST00000322716.5	-	1	2026	c.1800delA	c.(1798-1800)agafs	p.R600fs	MLH1_ENST00000539477.1_5'Flank|MLH1_ENST00000455445.2_5'Flank|MLH1_ENST00000536378.1_5'Flank|MLH1_ENST00000435176.1_5'Flank|MLH1_ENST00000231790.2_5'Flank|MLH1_ENST00000458205.2_5'Flank	NM_014805.3	NP_055620.1	Q7L775	EPMIP_HUMAN	EPM2A (laforin) interacting protein 1	600					positive regulation of glycogen (starch) synthase activity (GO:2000467)|positive regulation of glycogen biosynthetic process (GO:0045725)|response to insulin (GO:0032868)	endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)				breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|liver(1)|lung(12)|ovary(2)	27						CATTTCTTTCTCTCACAAGGT	0.388																																						ENST00000322716.5																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|liver(1)|lung(12)|ovary(2)	27						c.(1798-1800)agfs		EPM2A (laforin) interacting protein 1							85	84	84					3																	37032769		1839	4084	5923	SO:0001589	frameshift_variant	9852					endoplasmic reticulum		g.chr3:37032769delT	AB018309	CCDS46790.1	3p22.1	2003-03-26							19735	protein-coding gene	gene with protein product		607911					Standard	NM_014805		Approved	KIAA0766, FLJ11207	uc003cgk.3	Q7L775		ENST00000322716.5:c.1800delA	3.37:g.37032769delT	ENSP00000406027:p.Arg600fs						p.R600fs	NM_014805.3	NP_055620.1	Q7L775	EPMIP_HUMAN			1	2026	-			600					O94866|Q9H3L3	Frame_Shift_Del	DEL	ENST00000322716.5	37	c.1800delA	CCDS46790.1																																																																																				0.388	EPM2AIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000470593.1	NM_014805		42	132						42	132	---	---	---	---	-	37032769	T	-	37032769	7	5	384	1	0	1	0	1	0	0	0	0	5184	1548	54	0	27	0	EPM2AIP1	3	37032769	Frame_Shift_Del	DEL	T	TCGA-V1-A9OA-01A-11D-A41K-08		37032769	160989661	3	18868											
DHX30	22907	broad.mit.edu	37	chr3	47889821	47889821	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccaagtgccagagatcctgcGcacacctcttgagaacctgg	10	7	10	14	1	1	2	0	1	1	2	2	4	2	2	5	1	3	1	5	1	2	1			TCGA-V1-A9OA-01A-11D-A41K-08	TCGA-V1-A9OA-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47d4bed8-db46-45d2-8e56-de72205f011d	d84f00dc-8c0d-4a2a-99e3-836a59aba5b7	g.chr3:47889821G>A	ENST00000445061.1	+	15	2845	c.2438G>A	c.(2437-2439)cGc>cAc	p.R813H	DHX30_ENST00000348968.4_Missense_Mutation_p.R785H|MIR1226_ENST00000408658.1_RNA|DHX30_ENST00000457607.1_Missense_Mutation_p.R841H|DHX30_ENST00000446256.2_Missense_Mutation_p.R774H	NM_138615.2	NP_619520.1	Q7L2E3	DHX30_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 30	813	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.					cytoplasm (GO:0005737)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|chromatin binding (GO:0003682)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)			endometrium(3)|kidney(1)|large_intestine(11)|lung(13)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	37				BRCA - Breast invasive adenocarcinoma(193;0.000696)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)		GAGATCCTGCGCACACCTCTT	0.657																																						ENST00000446256.2																			0				endometrium(3)|kidney(1)|large_intestine(11)|lung(13)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	37						c.(2320-2322)cGc>cAc		DEAH (Asp-Glu-Ala-His) box helicase 30							47	54	52					3																	47889821		2203	4300	6503	SO:0001583	missense	22907					mitochondrial nucleoid	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding	g.chr3:47889821G>A	AB020697	CCDS2759.1	3p24.3-p22.1	2013-07-16	2013-07-16	2003-06-13	ENSG00000132153	ENSG00000132153		"DEAH-boxes"	16716	protein-coding gene	gene with protein product			"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 30", "DEAH (Asp-Glu-Ala-His) box polypeptide 30"	DDX30		10048485, 18022663	Standard	NM_138615		Approved	KIAA0890, FLJ11214	uc003cru.3	Q7L2E3	OTTHUMG00000133522	ENST00000445061.1:c.2438G>A	3.37:g.47889821G>A	ENSP00000405620:p.Arg813His					DHX30_ENST00000457607.1_Missense_Mutation_p.R841H|DHX30_ENST00000445061.1_Missense_Mutation_p.R813H|DHX30_ENST00000348968.4_Missense_Mutation_p.R785H	p.R774H	NM_014966.3	NP_055781.2	Q7L2E3	DHX30_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000696)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)	16	2893	+			813			Helicase C-terminal.		A8K5F1|O94965|Q7Z753|Q96CH4|Q9NUQ0	Missense_Mutation	SNP	ENST00000445061.1	37	c.2321G>A	CCDS2759.1	.	.	.	.	.	.	.	.	.	.	G	26.7	4.759104	0.89843	.	.	ENSG00000132153	ENST00000446256;ENST00000445061;ENST00000348968;ENST00000457607	T;T;T;T	0.03441	3.93;3.93;3.93;3.93	5.72	5.72	0.89469	Helicase, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.23289	0.0563	M	0.84511	2.7	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.83275	0.95;0.996	T	0.00383	-1.1774	10	0.87932	D	0	.	18.8619	0.92276	0.0:0.0:1.0:0.0	.	813;774	Q7L2E3;Q7L2E3-3	DHX30_HUMAN;.	H	774;813;785;841	ENSP00000392601:R774H;ENSP00000405620:R813H;ENSP00000343442:R785H;ENSP00000394682:R841H	ENSP00000343442:R785H	R	+	2	0	DHX30	47864825	1.000000	0.71417	1.000000	0.80357	0.840000	0.47671	9.815000	0.99349	2.687000	0.91594	0.655000	0.94253	CGC		0.657	DHX30-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257495.2	NM_138615		17	32	0	0	0	1	0	17	32					A	47889821	G	A	47889821	3	1	384	1	0	0	0	0	1	0	0	0	4504	1087	38	1	2499	1	DHX30	3	47889821	Missense_Mutation	SNP	G	TCGA-V1-A9OA-01A-11D-A41K-08	10857052	47889821	150132609	4	18869											
DMP1	1758	broad.mit.edu	37	chr4	88583764	88583764	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcatctcagaggaagatgaCagaagcgagcttgatgacaa	15	6	12	8	2	1	6	1	3	1	3	2	8	1	7	0	1	2	2	0	1	3	1			TCGA-V1-A9OA-01A-11D-A41K-08	TCGA-V1-A9OA-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47d4bed8-db46-45d2-8e56-de72205f011d	d84f00dc-8c0d-4a2a-99e3-836a59aba5b7	g.chr4:88583764C>G	ENST00000339673.6	+	6	933	c.834C>G	c.(832-834)gaC>gaG	p.D278E	DMP1_ENST00000282479.7_Missense_Mutation_p.D262E|RP11-742B18.1_ENST00000506814.1_RNA|RP11-742B18.1_ENST00000506480.1_RNA|RP11-742B18.1_ENST00000507894.1_RNA	NM_004407.3	NP_004398.1	Q13316	DMP1_HUMAN	dentin matrix acidic phosphoprotein 1	278					biomineral tissue development (GO:0031214)|extracellular matrix organization (GO:0030198)|ossification (GO:0001503)|positive regulation of cell-substrate adhesion (GO:0010811)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|nucleus (GO:0005634)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix binding (GO:0050840)|integrin binding (GO:0005178)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(1)|stomach(1)	32		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.227)		OV - Ovarian serous cystadenocarcinoma(123;0.000516)		AGGAAGATGACAGAAGCGAGC	0.478																																						ENST00000339673.6																			0				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(1)|stomach(1)	32						c.(832-834)gaC>gaG		dentin matrix acidic phosphoprotein 1							63	64	64					4																	88583764		2203	4300	6503	SO:0001583	missense	1758				biomineral tissue development|ossification	cytoplasm|nucleus|proteinaceous extracellular matrix	calcium ion binding|integrin binding	g.chr4:88583764C>G	U34037	CCDS3623.1, CCDS43249.1	4q21	2008-08-29	2008-08-29		ENSG00000152592	ENSG00000152592			2932	protein-coding gene	gene with protein product		600980	"dentin matrix acidic phosphoprotein"			8586437, 9177774	Standard	NM_001079911		Approved		uc003hqv.3	Q13316	OTTHUMG00000130598	ENST00000339673.6:c.834C>G	4.37:g.88583764C>G	ENSP00000340935:p.Asp278Glu					DMP1_ENST00000282479.7_Missense_Mutation_p.D262E|RP11-742B18.1_ENST00000507894.1_RNA|RP11-742B18.1_ENST00000506480.1_RNA	p.D278E	NM_004407.3	NP_004398.1	Q13316	DMP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000516)	6	933	+		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.227)	278					A1L4L3|O43265	Missense_Mutation	SNP	ENST00000339673.6	37	c.834C>G	CCDS3623.1	.	.	.	.	.	.	.	.	.	.	C	8.763	0.924103	0.18056	.	.	ENSG00000152592	ENST00000339673;ENST00000282479	T;T	0.41758	0.99;0.99	5.13	1.4	0.22301	.	0.443549	0.20824	N	0.085017	T	0.44726	0.1307	L	0.60067	1.865	0.09310	N	1	P;P	0.38048	0.562;0.616	B;P	0.47528	0.413;0.549	T	0.35822	-0.9773	10	0.54805	T	0.06	-2.271	6.8386	0.23951	0.0:0.5684:0.1207:0.311	.	262;278	Q13316-2;Q13316	.;DMP1_HUMAN	E	278;262	ENSP00000340935:D278E;ENSP00000282479:D262E	ENSP00000282479:D262E	D	+	3	2	DMP1	88802788	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.773000	0.04689	-0.025000	0.13918	-0.813000	0.03139	GAC		0.478	DMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253047.1			8	14	0	0	0	1	0	8	14					G	88583764	C	G	88583764	3	3	384	1	0	0	0	0	1	0	0	0	4583	477	17	5	852	5	DMP1	4	88583764	Missense_Mutation	SNP	C	TCGA-V1-A9OA-01A-11D-A41K-08		88583764	102570512	5	18870											
GPR98	84059	broad.mit.edu	37	chr5	90149293	90149293	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaattagtccagtttacagaGtatagcagccaacagtggtt	14	11	9	7	0	0	1	0	0	0	1	1	1	1	1	2	1	4	4	2	1	6	6			TCGA-V1-A9OA-01A-11D-A41K-08	TCGA-V1-A9OA-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47d4bed8-db46-45d2-8e56-de72205f011d	d84f00dc-8c0d-4a2a-99e3-836a59aba5b7	g.chr5:90149293G>A	ENST00000405460.2	+	80	17493	c.17397G>A	c.(17395-17397)gaG>gaA	p.E5799E	GPR98_ENST00000425867.2_Silent_p.E1460E	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	5799					detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		AGTTTACAGAGTATAGCAGCC	0.373																																						ENST00000405460.2																			0				NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269						c.(17395-17397)gaG>gaA		G protein-coupled receptor 98							70	66	67					5																	90149293		1847	4084	5931	SO:0001819	synonymous_variant	84059				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr5:90149293G>A	AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"-", "GPCR / Class B : Orphans"	17416	protein-coding gene	gene with protein product		602851	"monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.17397G>A	5.37:g.90149293G>A						GPR98_ENST00000425867.2_Silent_p.E1460E	p.E5799E	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)	80	17493	+		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)	5799					O75171|Q8TF58|Q9H0X5|Q9UL61	Silent	SNP	ENST00000405460.2	37	c.17397G>A	CCDS47246.1																																																																																				0.373	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2	NM_032119		3	17	0	0	0	1	0	3	17					A	90149293	G	A	90149293	2	1	384	1	0	0	0	0	0	0	0	1	6721	1020	36	3		3	GPR98	5	90149293	Silent	SNP	G	TCGA-V1-A9OA-01A-11D-A41K-08		90149293	90765967	6	18871											
KCNK16	83795	broad.mit.edu	37	chr6	39282878	39282878	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggtctcctgcctggagccGccttggctccacagccttgc	3	10	12	16	1	1	0	0	0	1	0	3	1	2	1	6	3	4	1	6	3	0	2			TCGA-V1-A9OA-01A-11D-A41K-08	TCGA-V1-A9OA-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47d4bed8-db46-45d2-8e56-de72205f011d	d84f00dc-8c0d-4a2a-99e3-836a59aba5b7	g.chr6:39282878G>A	ENST00000373229.5	-	6	843	c.830C>T	c.(829-831)gCg>gTg	p.A277V	KCNK16_ENST00000373227.4_Missense_Mutation_p.A230V|KCNK17_ENST00000453413.2_5'Flank|KCNK16_ENST00000425054.2_3'UTR|KCNK17_ENST00000373231.4_5'Flank|KCNK16_ENST00000507712.1_Missense_Mutation_p.A165V	NM_032115.3	NP_115491.1	Q96T55	KCNKG_HUMAN	potassium channel, subfamily K, member 16	277					potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	potassium channel activity (GO:0005267)|voltage-gated ion channel activity (GO:0005244)			large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)	13						GCCTGGAGCCGCCTTGGCTCC	0.572																																						ENST00000373229.5																			0				large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)	13						c.(829-831)gCg>gTg		potassium channel, subfamily K, member 16							106	104	105					6																	39282878		2203	4300	6503	SO:0001583	missense	83795					integral to membrane	potassium channel activity|voltage-gated ion channel activity	g.chr6:39282878G>A	AF358909	CCDS4843.1, CCDS47420.1, CCDS47421.1, CCDS47422.1	6p21.2-p21.1	2012-03-07			ENSG00000095981	ENSG00000095981		"Potassium channels", "Voltage-gated ion channels / Potassium channels, Two-P"	14464	protein-coding gene	gene with protein product		607369				11263999, 16382106	Standard	NM_032115		Approved	K2p16.1, TALK-1, TALK1	uc003ooq.3	Q96T55	OTTHUMG00000014645	ENST00000373229.5:c.830C>T	6.37:g.39282878G>A	ENSP00000362326:p.Ala277Val					KCNK16_ENST00000425054.2_3'UTR|KCNK16_ENST00000507712.1_Missense_Mutation_p.A165V|KCNK16_ENST00000373227.4_Missense_Mutation_p.A230V	p.A277V	NM_032115.3	NP_115491.1	Q96T55	KCNKG_HUMAN			6	843	-			277					B5TJL9|Q2M2N9|Q5TCF3|Q6X6Z3|Q6X6Z4|Q6X6Z5|Q9H591	Missense_Mutation	SNP	ENST00000373229.5	37	c.830C>T	CCDS4843.1	.	.	.	.	.	.	.	.	.	.	G	8.906	0.957519	0.18507	.	.	ENSG00000095981	ENST00000373229;ENST00000507712;ENST00000373227	T;T;T	0.16196	2.53;2.36;2.95	3.28	-0.489	0.12052	.	450.126000	0.00166	N	0.000000	T	0.02455	0.0075	N	0.08118	0	0.09310	N	1	B;B	0.13594	0.008;0.001	B;B	0.01281	0.0;0.0	T	0.36986	-0.9725	10	0.48119	T	0.1	.	3.2418	0.06783	0.0:0.2433:0.219:0.5377	.	230;277	Q96T55-5;Q96T55	.;KCNKG_HUMAN	V	277;165;230	ENSP00000362326:A277V;ENSP00000423842:A165V;ENSP00000362324:A230V	ENSP00000362324:A230V	A	-	2	0	KCNK16	39390856	0.000000	0.05858	0.000000	0.03702	0.025000	0.11179	-0.786000	0.04623	-0.085000	0.12573	-0.520000	0.04383	GCG		0.572	KCNK16-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000040452.2	NM_032115		4	90	0	0	0	1	0	4	90					A	39282878	G	A	39282878	3	1	384	1	0	0	0	0	1	0	0	0	8063	1087	38	1	103	1	KCNK16	6	39282878	Missense_Mutation	SNP	G	TCGA-V1-A9OA-01A-11D-A41K-08		39282878	131832189	7	18872											
TNRC18	84629	broad.mit.edu	37	chr7	5401259	5401259	+	Frame_Shift_Del	DEL	G	G	-																															gccgctcttccctctcttgcGggggggcgacagggcgctcg																										TCGA-V1-A9OA-01A-11D-A41K-08	TCGA-V1-A9OA-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47d4bed8-db46-45d2-8e56-de72205f011d	d84f00dc-8c0d-4a2a-99e3-836a59aba5b7	g.chr7:5401259delG	ENST00000430969.1	-	14	4975	c.4627delC	c.(4627-4629)cgcfs	p.R1543fs	TNRC18_ENST00000399537.4_Frame_Shift_Del_p.R1543fs	NM_001080495.2	NP_001073964.2	O15417	TNC18_HUMAN	trinucleotide repeat containing 18	1543							chromatin binding (GO:0003682)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)	11		Ovarian(82;0.142)		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)		CCTCTCTTGCGGGGGGGCGAC	0.692																																						ENST00000399537.4																			0				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)	11						c.(4627-4629)gcfs		trinucleotide repeat containing 18				32,3150		10,12,1569						3.9	1			15	35,6719		7,21,3349	no	frameshift	TNRC18	NM_001080495.2		17,33,4918	A1A1,A1R,RR		0.5182,1.0057,0.6743				67,9869				SO:0001589	frameshift_variant	84629						DNA binding	g.chr7:5401259delG	U80753	CCDS47534.1	7p22.1	2012-04-17			ENSG00000182095	ENSG00000182095		"Trinucleotide (CAG) repeat containing"	11962	protein-coding gene	gene with protein product						9225980	Standard	NM_001080495		Approved	CAGL79, TNRC18A, KIAA1856	uc003soi.4	O15417	OTTHUMG00000151831	ENST00000430969.1:c.4627delC	7.37:g.5401259delG	ENSP00000395538:p.Arg1543fs					TNRC18_ENST00000430969.1_Frame_Shift_Del_p.R1543fs	p.R1543fs			O15417	TNC18_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)	14	4975	-		Ovarian(82;0.142)	1543					A8MX41|Q96JH1|Q96K91	Frame_Shift_Del	DEL	ENST00000430969.1	37	c.4627delC	CCDS47534.1																																																																																				0.692	TNRC18-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding				2	4						2	4	---	---	---	---	-	5401259	G	-	5401259	7	5	384	1	0	1	0	1	0	0	0	0	16336	1116	39	0	4347	0	TNRC18	7	5401259	Frame_Shift_Del	DEL	G	TCGA-V1-A9OA-01A-11D-A41K-08		5401259	153737404	8	18873											
POM121C	100101267	broad.mit.edu	37	chr7	75070281	75070281	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatttggtcttcttcctccaCtgtccttttcttcttcttct	2	23	3	13	0	6	0	0	0	6	0	9	0	9	0	3	1	0	0	3	1	1	9			TCGA-V1-A9OA-01A-11D-A41K-08	TCGA-V1-A9OA-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47d4bed8-db46-45d2-8e56-de72205f011d	d84f00dc-8c0d-4a2a-99e3-836a59aba5b7	g.chr7:75070281C>A	ENST00000257665.5	-	3	903	c.904G>T	c.(904-906)Gtg>Ttg	p.V302L	POM121C_ENST00000453279.2_Missense_Mutation_p.V60L			A8CG34	P121C_HUMAN	POM121 transmembrane nucleoporin C	302	Pore side. {ECO:0000255}.|Required for targeting to the nucleus and nuclear pore complex.				mRNA transport (GO:0051028)|protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|nuclear pore (GO:0005643)				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	14						TCTTCCTCCACTGTCCTTTTC	0.473																																						ENST00000453279.2																			0				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	14						c.(178-180)Gtg>Ttg		POM121 transmembrane nucleoporin C							137	151	147					7																	75070281		2202	4281	6483	SO:0001583	missense	100101267				mRNA transport|protein transport|transmembrane transport	endoplasmic reticulum membrane|nuclear membrane|nuclear pore	protein binding	g.chr7:75070281C>A		CCDS47617.1	7q11.23	2012-03-13	2012-03-13		ENSG00000135213	ENSG00000272391			34005	protein-coding gene	gene with protein product		615754	"POM121 membrane glycoprotein C"			17900573	Standard	NM_001099415		Approved		uc003udk.4	A8CG34	OTTHUMG00000156238	ENST00000257665.5:c.904G>T	7.37:g.75070281C>A	ENSP00000257665:p.Val302Leu					POM121C_ENST00000257665.5_Missense_Mutation_p.V302L	p.V60L	NM_001099415.1	NP_001092885.1	A8CG34	P121C_HUMAN			5	1042	-			302			Required for targeting to the nucleus and nuclear pore complex.		O75115|Q9Y2N3|Q9Y4S7	Missense_Mutation	SNP	ENST00000257665.5	37	c.178G>T		.	.	.	.	.	.	.	.	.	.	C	13.90	2.375633	0.42105	.	.	ENSG00000135213	ENST00000257665;ENST00000453279	T;T	0.11604	2.76;2.76	4.27	3.38	0.38709	.	0.195954	0.24978	N	0.034084	T	0.12561	0.0305	M	0.73962	2.25	0.35634	D	0.810419	P	0.41102	0.738	B	0.35413	0.202	T	0.18429	-1.0337	10	0.41790	T	0.15	.	9.3638	0.38212	0.0:0.8968:0.0:0.1032	.	302	A8CG34	P121C_HUMAN	L	302;60	ENSP00000257665:V302L;ENSP00000414208:V60L	ENSP00000257665:V302L	V	-	1	0	POM121C	74908217	0.997000	0.39634	0.317000	0.25265	0.570000	0.35934	3.987000	0.56944	0.923000	0.37045	0.505000	0.49811	GTG		0.473	POM121C-003	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000343919.2	NM_001099415		36	162	1	0	1.67211e-32	1	1.86883e-32	36	162					A	75070281	C	A	75070281	3	1	384	1	0	0	0	0	1	0	0	0	12240	565	20	5	2829	5	POM121C	7	75070281	Missense_Mutation	SNP	C	TCGA-V1-A9OA-01A-11D-A41K-08	69669022	75070281	84068382	9	18874											
FLNC	2318	broad.mit.edu	37	chr7	128481309	128481309	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gatgtgcggtactggcccacGgagcctggggagtacgctgt	6	8	17	10	3	0	0	0	0	0	0	0	3	0	2	2	5	4	3	2	5	2	2	rs553903798		TCGA-V1-A9OA-01A-11D-A41K-08	TCGA-V1-A9OA-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47d4bed8-db46-45d2-8e56-de72205f011d	d84f00dc-8c0d-4a2a-99e3-836a59aba5b7	g.chr7:128481309G>A	ENST00000325888.8	+	12	2160	c.1899G>A	c.(1897-1899)acG>acA	p.T633T	FLNC_ENST00000346177.6_Silent_p.T633T	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	633					cell junction assembly (GO:0034329)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|cytoskeletal protein binding (GO:0008092)			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						ACTGGCCCACGGAGCCTGGGG	0.622													G|||	1	0.000199681	0	0	5008	,	,		18510	0		0	False		,,,				2504	0.001					ENST00000325888.8																			0				biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						c.(1897-1899)acG>acA		filamin C, gamma							172	183	180					7																	128481309		2170	4264	6434	SO:0001819	synonymous_variant	2318				cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding	g.chr7:128481309G>A	AB208865	CCDS43644.1, CCDS47705.1	7q32-q35	2014-09-17	2009-07-23		ENSG00000128591	ENSG00000128591			3756	protein-coding gene	gene with protein product	"actin binding protein 280"	102565	"filamin C, gamma (actin binding protein 280)"	FLN2		7689010, 8088838	Standard	NM_001458		Approved	ABP-280, ABPL	uc003vnz.4	Q14315	OTTHUMG00000023627	ENST00000325888.8:c.1899G>A	7.37:g.128481309G>A						FLNC_ENST00000346177.6_Silent_p.T633T	p.T633T	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN			12	2160	+			633					B2ZZ88|O95303|Q07985|Q9NS12|Q9NYE5|Q9UMR8|Q9Y503	Silent	SNP	ENST00000325888.8	37	c.1899G>A	CCDS43644.1																																																																																				0.622	FLNC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059948.3			5	149	0	0	0	1	0	5	149					A	128481309	G	A	128481309	2	1	384	1	0	0	0	0	0	0	0	1	5935	1103	39	2		2	FLNC	7	128481309	Silent	SNP	G	TCGA-V1-A9OA-01A-11D-A41K-08	53411028	128481309	30657354	10	18875											
CPA4	51200	broad.mit.edu	37	chr7	129962465	129962465	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atccccactgcagaggagacGtggctggggctgaagaccat	10	6	14	11	1	0	4	0	1	0	3	1	5	1	4	3	4	1	3	3	4	1	0			TCGA-V1-A9OA-01A-11D-A41K-08	TCGA-V1-A9OA-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47d4bed8-db46-45d2-8e56-de72205f011d	d84f00dc-8c0d-4a2a-99e3-836a59aba5b7	g.chr7:129962465G>A	ENST00000222482.4	+	11	1243	c.1215G>A	c.(1213-1215)acG>acA	p.T405T	CPA4_ENST00000445470.2_Silent_p.T372T|CPA4_ENST00000493259.1_Silent_p.T301T	NM_016352.3	NP_057436.2	Q9UI42	CBPA4_HUMAN	carboxypeptidase A4	405					histone acetylation (GO:0016573)	extracellular region (GO:0005576)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21	Melanoma(18;0.0435)					CAGAGGAGACGTGGCTGGGGC	0.522																																						ENST00000222482.4																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21						c.(1213-1215)acG>acA		carboxypeptidase A4							187	156	167					7																	129962465		2203	4300	6503	SO:0001819	synonymous_variant	51200				histone acetylation|proteolysis	extracellular region	metallocarboxypeptidase activity|zinc ion binding	g.chr7:129962465G>A	AF095719	CCDS5818.1, CCDS55163.1	7q32	2008-07-18			ENSG00000128510	ENSG00000128510			15740	protein-coding gene	gene with protein product	"carboxypeptidase A3"	607635				10383164, 10860668	Standard	NM_016352		Approved	CPA3	uc003vpr.3	Q9UI42	OTTHUMG00000157825	ENST00000222482.4:c.1215G>A	7.37:g.129962465G>A						CPA4_ENST00000445470.2_Silent_p.T372T|CPA4_ENST00000493259.1_Silent_p.T301T	p.T405T	NM_016352.3	NP_057436.2	Q9UI42	CBPA4_HUMAN			11	1243	+	Melanoma(18;0.0435)		405					B7Z576|Q86UY9	Silent	SNP	ENST00000222482.4	37	c.1215G>A	CCDS5818.1																																																																																				0.522	CPA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349725.1	NM_016352		28	57	0	0	0	1	0	28	57					A	129962465	G	A	129962465	2	1	384	1	0	0	0	0	0	0	0	1	3792	1132	40	1		1	CPA4	7	129962465	Silent	SNP	G	TCGA-V1-A9OA-01A-11D-A41K-08	1481156	129962465	29176198	11	18876											
FAM180A	389558	broad.mit.edu	37	chr7	135418752	135418752	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tactcccggctgtgaggagcGcatcaagtcgtgcctcaggg	7	8	14	12	3	2	1	2	1	0	0	4	2	3	2	2	3	3	2	2	3	2	1	rs554135792		TCGA-V1-A9OA-01A-11D-A41K-08	TCGA-V1-A9OA-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47d4bed8-db46-45d2-8e56-de72205f011d	d84f00dc-8c0d-4a2a-99e3-836a59aba5b7	g.chr7:135418752G>A	ENST00000338588.3	-	3	758	c.493C>T	c.(493-495)Cgc>Tgc	p.R165C	FAM180A_ENST00000435869.1_Intron|FAM180A_ENST00000415751.1_Missense_Mutation_p.R165C	NM_205855.3	NP_995327.1	Q6UWF9	F180A_HUMAN	family with sequence similarity 180, member A	165						extracellular region (GO:0005576)				endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)	14						TGTGAGGAGCGCATCAAGTCG	0.597													G|||	1	0.000199681	0	0	5008	,	,		20056	0		0	False		,,,				2504	0.001					ENST00000338588.3																			0				endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)	14						c.(493-495)Cgc>Tgc		family with sequence similarity 180, member A							67	59	62					7																	135418752		2203	4300	6503	SO:0001583	missense	389558					extracellular region		g.chr7:135418752G>A	AC091736, AK290250, AK310180, AY358803	CCDS5841.1	7q33	2008-07-25			ENSG00000189320	ENSG00000189320			33773	protein-coding gene	gene with protein product						12975309, 12690205	Standard	NM_205855		Approved	HWKM1940, UNQ1940	uc003vtd.3	Q6UWF9	OTTHUMG00000155537	ENST00000338588.3:c.493C>T	7.37:g.135418752G>A	ENSP00000342336:p.Arg165Cys					FAM180A_ENST00000415751.1_Missense_Mutation_p.R165C	p.R165C	NM_205855.3	NP_995327.1	Q6UWF9	F180A_HUMAN			3	758	-			165					B2RP85	Missense_Mutation	SNP	ENST00000338588.3	37	c.493C>T	CCDS5841.1	.	.	.	.	.	.	.	.	.	.	G	19.31	3.803009	0.70682	.	.	ENSG00000189320	ENST00000338588;ENST00000415751	T;T	0.32753	1.44;1.44	5.65	3.64	0.41730	.	0.844010	0.10623	N	0.653115	T	0.40398	0.1115	L	0.44542	1.39	0.41549	D	0.988564	D	0.65815	0.995	P	0.53861	0.736	T	0.26326	-1.0106	10	0.72032	D	0.01	-22.9136	12.1672	0.54138	0.0:0.0:0.6799:0.3201	.	165	Q6UWF9	F180A_HUMAN	C	165	ENSP00000342336:R165C;ENSP00000395467:R165C	ENSP00000342336:R165C	R	-	1	0	FAM180A	135069292	0.904000	0.30761	0.945000	0.38365	0.922000	0.55478	1.270000	0.33086	1.375000	0.46248	0.561000	0.74099	CGC		0.597	FAM180A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340554.2	NM_205855		4	13	0	0	0	1	0	4	13					A	135418752	G	A	135418752	3	1	384	1	0	0	0	0	1	0	0	0	5507	1087	38	1	32	1	FAM180A	7	135418752	Missense_Mutation	SNP	G	TCGA-V1-A9OA-01A-11D-A41K-08	5456287	135418752	23719911	12	18877											
ADCK5	203054	broad.mit.edu	37	chr8	145616370	145616370	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ttgaggacttccaggccctcCcccacgagctcttccaggag	7	8	10	16	1	1	1	0	1	1	0	4	4	4	3	5	3	1	1	5	3	0	3			TCGA-V1-A9OA-01A-11D-A41K-08	TCGA-V1-A9OA-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47d4bed8-db46-45d2-8e56-de72205f011d	d84f00dc-8c0d-4a2a-99e3-836a59aba5b7	g.chr8:145616370C>A	ENST00000308860.6	+	6	624	c.580C>A	c.(580-582)Ccc>Acc	p.P194T	CPSF1_ENST00000531727.1_5'Flank|ADCK5_ENST00000526231.2_3'UTR|MIR939_ENST00000401314.1_RNA	NM_174922.3	NP_777582.4	Q3MIX3	ADCK5_HUMAN	aarF domain containing kinase 5	194	Protein kinase.					integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	protein serine/threonine kinase activity (GO:0004674)			endometrium(1)|lung(2)|prostate(2)|skin(1)|stomach(2)	8	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;8.96e-41)|Epithelial(56;4.08e-40)|all cancers(56;4.51e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055)			CCAGGCCCTCCCCCACGAGCT	0.637																																						ENST00000308860.6																			0				endometrium(1)|lung(2)|prostate(2)|skin(1)|stomach(2)	8						c.(580-582)Ccc>Acc		aarF domain containing kinase 5							63	61	62					8																	145616370		2203	4300	6503	SO:0001583	missense	203054					integral to membrane	protein serine/threonine kinase activity	g.chr8:145616370C>A	BC032402	CCDS34965.1, CCDS34965.2	8q24.3	2004-07-06			ENSG00000173137	ENSG00000173137			21738	protein-coding gene	gene with protein product							Standard	NM_174922		Approved	FLJ35454	uc003zch.3	Q3MIX3	OTTHUMG00000165190	ENST00000308860.6:c.580C>A	8.37:g.145616370C>A	ENSP00000310547:p.Pro194Thr					ADCK5_ENST00000526231.2_3'UTR	p.P194T	NM_174922.3	NP_777582.3	Q3MIX3	ADCK5_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;8.96e-41)|Epithelial(56;4.08e-40)|all cancers(56;4.51e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055)		6	624	+	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		194			Protein kinase.		B3KS46|Q5U4P1|Q6P2S4|Q8N5V3	Missense_Mutation	SNP	ENST00000308860.6	37	c.580C>A	CCDS34965.1	.	.	.	.	.	.	.	.	.	.	C	17.94	3.510652	0.64522	.	.	ENSG00000173137	ENST00000308860	T	0.54866	0.55	5.19	4.32	0.51571	ABC-1 (1);Protein kinase-like domain (1);	0.069635	0.56097	D	0.000024	T	0.67692	0.2920	M	0.87900	2.915	0.80722	D	1	D	0.53885	0.963	P	0.58130	0.833	T	0.67921	-0.5545	10	0.20046	T	0.44	-27.4556	10.2822	0.43545	0.0:0.6293:0.3707:0.0	.	194	Q3MIX3	ADCK5_HUMAN	T	194	ENSP00000310547:P194T	ENSP00000310547:P194T	P	+	1	0	ADCK5	145587178	0.984000	0.35163	0.121000	0.21740	0.958000	0.62258	2.646000	0.46630	1.159000	0.42565	0.462000	0.41574	CCC		0.637	ADCK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382556.2	NM_174922		4	29	1	0	0.00909568	1	0.009601	4	29					A	145616370	C	A	145616370	3	1	384	1	0	0	0	0	1	0	0	0	291	623	22	5	602	5	ADCK5	8	145616370	Missense_Mutation	SNP	C	TCGA-V1-A9OA-01A-11D-A41K-08		145616370	747652	13	18878											
SLC25A25	114789	broad.mit.edu	37	chr9	130868474	130868474	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aggagactctgaggattcacGagaggcttgtggcagggtcc	9	8	16	8	1	2	3	1	1	1	2	3	6	3	4	1	5	0	2	1	5	0	2	rs575643847		TCGA-V1-A9OA-01A-11D-A41K-08	TCGA-V1-A9OA-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47d4bed8-db46-45d2-8e56-de72205f011d	d84f00dc-8c0d-4a2a-99e3-836a59aba5b7	g.chr9:130868474G>A	ENST00000373064.5	+	7	1107	c.844G>A	c.(844-846)Gag>Aag	p.E282K	SLC25A25_ENST00000433501.1_Missense_Mutation_p.E179K|SLC25A25_ENST00000373068.2_Missense_Mutation_p.E316K|SLC25A25_ENST00000373066.5_Missense_Mutation_p.E314K|SLC25A25_ENST00000432073.2_Missense_Mutation_p.E302K|SLC25A25_ENST00000373069.5_Missense_Mutation_p.E328K|RP11-395P17.11_ENST00000602939.1_RNA	NM_052901.4	NP_443133.2	Q6KCM7	SCMC2_HUMAN	solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 25	282					adipose tissue development (GO:0060612)|ATP metabolic process (GO:0046034)|calcium ion transmembrane transport (GO:0070588)|camera-type eye development (GO:0043010)|cellular respiration (GO:0045333)|multicellular organism growth (GO:0035264)|response to activity (GO:0014823)|response to dietary excess (GO:0002021)|response to food (GO:0032094)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)	10						GAGGATTCACGAGAGGCTTGT	0.602													G|||	1	0.000199681	0	0	5008	,	,		19237	0.001		0	False		,,,				2504	0					ENST00000373066.5																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)	10						c.(940-942)Gag>Aag		solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 25							160	172	168					9																	130868474		2203	4300	6503	SO:0001583	missense	114789				transmembrane transport	integral to membrane|mitochondrial inner membrane	calcium ion binding	g.chr9:130868474G>A	AJ619963	CCDS6890.1, CCDS35151.1, CCDS48031.1, CCDS59146.1	9q34	2013-05-22			ENSG00000148339	ENSG00000148339		"Solute carriers", "EF-hand domain containing"	20663	protein-coding gene	gene with protein product		608745				15123600	Standard	NM_052901		Approved	KIAA1896, PCSCL, MCSC	uc004btb.4	Q6KCM7	OTTHUMG00000020736	ENST00000373064.5:c.844G>A	9.37:g.130868474G>A	ENSP00000362155:p.Glu282Lys					SLC25A25_ENST00000432073.2_Missense_Mutation_p.E302K|SLC25A25_ENST00000373068.2_Missense_Mutation_p.E316K|SLC25A25_ENST00000433501.1_Missense_Mutation_p.E179K|SLC25A25_ENST00000373069.5_Missense_Mutation_p.E328K|SLC25A25_ENST00000373064.5_Missense_Mutation_p.E282K	p.E314K	NM_001265614.2	NP_001252543.1	Q6KCM7	SCMC2_HUMAN			8	1347	+			282					Q5SYW7|Q5SYW8|Q5SYX3|Q5VWU2|Q5VWU3|Q5VWU4|Q6KCM4|Q6KCM6|Q6UX48|Q705K2|Q96PZ1|Q9BSA6	Missense_Mutation	SNP	ENST00000373064.5	37	c.940G>A	CCDS6890.1	.	.	.	.	.	.	.	.	.	.	G	36	5.663754	0.96745	.	.	ENSG00000148339	ENST00000373068;ENST00000373069;ENST00000432073;ENST00000373066;ENST00000373064;ENST00000433501	T;T;T;T;T;T	0.78246	-1.16;-1.16;-1.16;-1.16;-1.16;-1.16	5.66	5.66	0.87406	Mitochondrial carrier domain (2);	0.000000	0.85682	D	0.000000	T	0.77877	0.4196	L	0.39692	1.235	0.80722	D	1	D;P;D;P	0.60160	0.987;0.956;0.984;0.724	P;P;P;B	0.49561	0.615;0.481;0.481;0.202	T	0.78663	-0.2116	10	0.49607	T	0.09	-35.8147	18.3036	0.90172	0.0:0.0:1.0:0.0	.	282;314;302;316	Q6KCM7;Q6KCM7-5;Q6KCM7-4;Q6KCM7-2	SCMC2_HUMAN;.;.;.	K	316;328;302;314;282;179	ENSP00000362159:E316K;ENSP00000362160:E328K;ENSP00000410053:E302K;ENSP00000362157:E314K;ENSP00000362155:E282K;ENSP00000401672:E179K	ENSP00000362155:E282K	E	+	1	0	SLC25A25	129908295	1.000000	0.71417	0.991000	0.47740	0.982000	0.71751	5.780000	0.68956	2.665000	0.90641	0.561000	0.74099	GAG		0.602	SLC25A25-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054407.1	NM_052901		12	114	0	0	0	1	0	12	114					A	130868474	G	A	130868474	3	1	384	1	0	0	0	0	1	0	0	0	14488	1059	37	2	1358	2	SLC25A25	9	130868474	Missense_Mutation	SNP	G	TCGA-V1-A9OA-01A-11D-A41K-08		130868474	10344957	14	18879											
FLI1	2313	broad.mit.edu	37	chr11	128642835	128642835	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcctccgcgccaccaccctcTacaacacggaagtgctgttg	8	8	8	17	3	1	0	0	0	1	0	3	1	3	1	5	1	3	2	5	1	3	2			TCGA-V1-A9OA-01A-11D-A41K-08	TCGA-V1-A9OA-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47d4bed8-db46-45d2-8e56-de72205f011d	d84f00dc-8c0d-4a2a-99e3-836a59aba5b7	g.chr11:128642835T>C	ENST00000527786.2	+	4	1033	c.544T>C	c.(544-546)Tac>Cac	p.Y182H	FLI1_ENST00000525560.1_Intron|FLI1_ENST00000534087.2_Missense_Mutation_p.Y149H|FLI1_ENST00000344954.6_Missense_Mutation_p.Y149H|FLI1_ENST00000281428.8_Missense_Mutation_p.Y116H	NM_001271010.1|NM_002017.4	NP_001257939.1|NP_002008.2	Q01543	FLI1_HUMAN	Fli-1 proto-oncogene, ETS transcription factor	182	PNT. {ECO:0000255|PROSITE- ProRule:PRU00762}.				blood circulation (GO:0008015)|cell differentiation (GO:0030154)|hemostasis (GO:0007599)|megakaryocyte development (GO:0035855)|organ morphogenesis (GO:0009887)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)		EWSR1/FLI1(2569)	NS(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(2)	31	all_hematologic(175;0.0641)	Lung NSC(97;0.00588)|all_lung(97;0.00764)|Breast(109;0.0115)|Medulloblastoma(222;0.0523)|all_neural(223;0.0862)|all_hematologic(192;0.182)		OV - Ovarian serous cystadenocarcinoma(99;0.01)|LUSC - Lung squamous cell carcinoma(976;0.0324)|Lung(977;0.0327)		CACCACCCTCTACAACACGGA	0.532			T	EWSR1	Ewing sarcoma																																	ENST00000344954.6				Dom	yes		11	11q24	2313	T	Friend leukemia virus integration 1			M	EWSR1		Ewing sarcoma	EWSR1/FLI1(2569)	0				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(2)	31						c.(445-447)Tac>Cac		Fli-1 proto-oncogene, ETS transcription factor							164	167	166					11																	128642835		2069	4212	6281	SO:0001583	missense	2313				hemostasis|organ morphogenesis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr11:128642835T>C	M98833	CCDS44768.1, CCDS53725.1, CCDS59230.1, CCDS59231.1	11q24.1-q24.3	2014-09-17	2013-08-07		ENSG00000151702	ENSG00000151702			3749	protein-coding gene	gene with protein product		193067	"Friend leukemia virus integration 1"			1765382	Standard	NM_001167681		Approved	SIC-1, EWSR2	uc010sbu.2	Q01543	OTTHUMG00000165792	ENST00000527786.2:c.544T>C	11.37:g.128642835T>C	ENSP00000433488:p.Tyr182His					FLI1_ENST00000281428.8_Missense_Mutation_p.Y116H|FLI1_ENST00000525560.1_Intron|FLI1_ENST00000429175.2_Missense_Mutation_p.Y182H|FLI1_ENST00000534087.1_Missense_Mutation_p.Y149H	p.Y149H			Q01543	FLI1_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.01)|LUSC - Lung squamous cell carcinoma(976;0.0324)|Lung(977;0.0327)	4	833	+	all_hematologic(175;0.0641)	Lung NSC(97;0.00588)|all_lung(97;0.00764)|Breast(109;0.0115)|Medulloblastoma(222;0.0523)|all_neural(223;0.0862)|all_hematologic(192;0.182)	182			PNT.		B2R8H2|B4DFV4|B4DTC6|G3V183|Q14319|Q92480|Q9UE07	Missense_Mutation	SNP	ENST00000527786.2	37	c.445T>C	CCDS44768.1	.	.	.	.	.	.	.	.	.	.	T	18.00	3.524421	0.64747	.	.	ENSG00000151702	ENST00000344954;ENST00000429175;ENST00000534087;ENST00000281428	T;T;T;T	0.30182	1.54;1.54;1.54;1.54	5.1	5.1	0.69264	Sterile alpha motif/pointed domain (2);Pointed domain (3);	0.000000	0.85682	D	0.000000	T	0.38241	0.1033	L	0.51853	1.615	0.80722	D	1	B;B	0.22746	0.074;0.001	B;B	0.40101	0.319;0.101	T	0.19976	-1.0289	9	.	.	.	.	14.9475	0.71044	0.0:0.0:0.0:1.0	.	182;116	Q01543;Q01543-2	FLI1_HUMAN;.	H	149;182;149;116	ENSP00000339627:Y149H;ENSP00000399985:Y182H;ENSP00000432950:Y149H;ENSP00000281428:Y116H	.	Y	+	1	0	FLI1	128148045	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.977000	0.88081	1.927000	0.55829	0.529000	0.55759	TAC		0.532	FLI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386226.2	NM_002017		12	117	0	0	0	1	0	12	117					C	128642835	T	C	128642835	3	2	384	1	0	0	0	0	1	0	0	0	5924	1522	53	4	558	4	FLI1	11	128642835	Missense_Mutation	SNP	T	TCGA-V1-A9OA-01A-11D-A41K-08		128642835	6363681	15	18880											
ACVRL1	94	broad.mit.edu	37	chr12	52312898	52312898	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	taaccggctggctgcagaccCggtgaggcctctgctgggac	6	7	15	13	2	1	2	0	1	1	1	1	3	1	3	3	5	3	4	3	5	1	1			TCGA-V1-A9OA-01A-11D-A41K-08	TCGA-V1-A9OA-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47d4bed8-db46-45d2-8e56-de72205f011d	d84f00dc-8c0d-4a2a-99e3-836a59aba5b7	g.chr12:52312898C>T	ENST00000388922.4	+	9	1659	c.1376C>T	c.(1375-1377)cCg>cTg	p.P459L	ACVRL1_ENST00000550683.1_Splice_Site_p.P473L|ACVRL1_ENST00000419526.2_Splice_Site_p.P285L	NM_000020.2	NP_000011.2	P37023	ACVL1_HUMAN	activin A receptor type II-like 1	459	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activin receptor signaling pathway (GO:0032924)|angiogenesis (GO:0001525)|artery development (GO:0060840)|blood circulation (GO:0008015)|blood vessel endothelial cell proliferation involved in sprouting angiogenesis (GO:0002043)|blood vessel maturation (GO:0001955)|blood vessel remodeling (GO:0001974)|BMP signaling pathway (GO:0030509)|cellular response to BMP stimulus (GO:0071773)|cellular response to transforming growth factor beta stimulus (GO:0071560)|endothelial tube morphogenesis (GO:0061154)|in utero embryonic development (GO:0001701)|lymphangiogenesis (GO:0001946)|lymphatic endothelial cell differentiation (GO:0060836)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA biosynthetic process (GO:2000279)|negative regulation of endothelial cell differentiation (GO:0045602)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of focal adhesion assembly (GO:0051895)|positive regulation of angiogenesis (GO:0045766)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of blood pressure (GO:0008217)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of DNA replication (GO:0006275)|regulation of endothelial cell proliferation (GO:0001936)|regulation of transcription, DNA-templated (GO:0006355)|retina vasculature development in camera-type eye (GO:0061298)|signal transduction (GO:0007165)|transforming growth factor beta receptor signaling pathway (GO:0007179)|venous blood vessel development (GO:0060841)|wound healing, spreading of epidermal cells (GO:0035313)	cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)	activin binding (GO:0048185)|activin receptor activity, type I (GO:0016361)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|SMAD binding (GO:0046332)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta receptor activity, type I (GO:0005025)|transforming growth factor beta-activated receptor activity (GO:0005024)|transmembrane receptor protein serine/threonine kinase activity (GO:0004675)			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	20				BRCA - Breast invasive adenocarcinoma(357;0.0991)	Adenosine triphosphate(DB00171)	GCTGCAGACCCGGTGAGGCCT	0.587																																						ENST00000550683.1																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	20						c.e8+1		activin A receptor type II-like 1	Adenosine triphosphate(DB00171)						70	58	62					12																	52312898		2203	4300	6503	SO:0001630	splice_region_variant	94				blood vessel endothelial cell proliferation involved in sprouting angiogenesis|blood vessel maturation|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of endothelial cell migration|negative regulation of focal adhesion assembly|positive regulation of BMP signaling pathway|positive regulation of transcription, DNA-dependent|regulation of blood pressure|regulation of blood vessel endothelial cell migration|regulation of DNA replication|regulation of endothelial cell proliferation|transforming growth factor beta receptor signaling pathway|wound healing, spreading of epidermal cells	cell surface|integral to plasma membrane	activin binding|activin receptor activity, type I|ATP binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity	g.chr12:52312898C>T	L17075	CCDS31804.1	12q13.13	2014-09-17			ENSG00000139567	ENSG00000139567			175	protein-coding gene	gene with protein product		601284		ACVRLK1, ORW2		8397373, 8640225	Standard	NM_000020		Approved	HHT2, ALK1, HHT	uc001rzk.3	P37023	OTTHUMG00000169507	ENST00000388922.4:c.1377+1C>T	12.37:g.52312898C>T						ACVRL1_ENST00000419526.2_Splice_Site_p.P285_splice|ACVRL1_ENST00000388922.4_Splice_Site_p.P459_splice	p.P473_splice	NM_001077401.1	NP_001070869.1	P37023	ACVL1_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.0991)	8	1519	+			459			Protein kinase.		A6NGA8	Splice_Site	SNP	ENST00000388922.4	37	c.1419_splice	CCDS31804.1	.	.	.	.	.	.	.	.	.	.	C	24.7	4.555030	0.86231	.	.	ENSG00000139567	ENST00000388922;ENST00000267008;ENST00000550683;ENST00000548659;ENST00000419526	T;T;T	0.64803	-0.12;-0.12;-0.12	4.89	4.89	0.63831	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.40302	N	0.001136	T	0.76941	0.4058	M	0.80183	2.485	0.80722	D	1	D;D	0.71674	0.971;0.998	B;D	0.64321	0.424;0.924	T	0.79564	-0.1751	10	0.72032	D	0.01	.	12.4395	0.55617	0.168:0.832:0.0:0.0	.	285;459	E7EN07;P37023	.;ACVL1_HUMAN	L	459;459;473;285;285	ENSP00000373574:P459L;ENSP00000447884:P473L;ENSP00000392492:P285L	ENSP00000267008:P459L	P	+	2	0	ACVRL1	50599165	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	4.486000	0.60286	2.720000	0.93068	0.561000	0.74099	CCG		0.587	ACVRL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404520.2		Missense_Mutation	14	42	0	0	0	1	0	14	42					T	52312898	C	T	52312898	5	4	384	1	0	0	0	0	0	0	1	0	225	666	23	2	1406	2	ACVRL1	12	52312898	Splice_Site	SNP	C	TCGA-V1-A9OA-01A-11D-A41K-08		52312898	81538997	16	18881											
MSLN	10232	broad.mit.edu	37	chr16	814693	814693	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgagccccccgaggacctggAcgccctcccattggacctgc	6	6	11	18	2	0	1	0	1	0	0	1	5	1	4	7	3	2	0	7	3	0	1			TCGA-V1-A9OA-01A-11D-A41K-08	TCGA-V1-A9OA-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47d4bed8-db46-45d2-8e56-de72205f011d	d84f00dc-8c0d-4a2a-99e3-836a59aba5b7	g.chr16:814693A>G	ENST00000382862.3	+	6	442	c.347A>G	c.(346-348)gAc>gGc	p.D116G	MSLN_ENST00000566549.1_Missense_Mutation_p.D116G|MSLN_ENST00000545450.2_Missense_Mutation_p.D116G|MSLN_ENST00000563941.1_Missense_Mutation_p.D116G	NM_013404.4	NP_037536.2	Q13421	MSLN_HUMAN	mesothelin	116					cell adhesion (GO:0007155)|pancreas development (GO:0031016)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(2)|kidney(2)|lung(11)|pancreas(1)|prostate(1)|skin(3)	20		Hepatocellular(780;0.00335)				GAGGACCTGGACGCCCTCCCA	0.682																																						ENST00000566549.1																			0				breast(2)|kidney(2)|lung(11)|pancreas(1)|prostate(1)|skin(3)	20						c.(346-348)gAc>gGc		mesothelin							76	87	83					16																	814693		2199	4292	6491	SO:0001583	missense	10232				cell adhesion	anchored to membrane|extracellular region|Golgi apparatus|plasma membrane		g.chr16:814693A>G	U40434	CCDS32356.1, CCDS45370.1	16p13.3	2008-04-16			ENSG00000102854	ENSG00000102854			7371	protein-coding gene	gene with protein product		601051				7665620, 8552591	Standard	NM_005823		Approved	CAK1, MPF	uc002cjw.2	Q13421	OTTHUMG00000047992	ENST00000382862.3:c.347A>G	16.37:g.814693A>G	ENSP00000372313:p.Asp116Gly					MSLN_ENST00000382862.3_Missense_Mutation_p.D116G|MSLN_ENST00000563941.1_Missense_Mutation_p.D116G|MSLN_ENST00000545450.2_Missense_Mutation_p.D116G	p.D116G			Q13421	MSLN_HUMAN			6	764	+		Hepatocellular(780;0.00335)	116					D3DU65|Q14859|Q4VQD5|Q96GR6|Q96KJ5|Q9BR17|Q9BTR2|Q9UCB2|Q9UK57	Missense_Mutation	SNP	ENST00000382862.3	37	c.347A>G	CCDS32356.1	.	.	.	.	.	.	.	.	.	.	A	9.224	1.034015	0.19590	.	.	ENSG00000102854	ENST00000446427;ENST00000445361;ENST00000545450;ENST00000382862	T;T	0.14766	2.48;2.48	2.36	2.36	0.29203	.	0.418767	0.19531	U	0.112023	T	0.16727	0.0402	L	0.50333	1.59	0.09310	N	1	P;P;D;P	0.54207	0.932;0.945;0.965;0.932	P;P;P;P	0.50136	0.48;0.615;0.632;0.48	T	0.05599	-1.0875	10	0.49607	T	0.09	.	6.2689	0.20943	1.0:0.0:0.0:0.0	.	115;116;116;116	Q13421-4;Q13421;Q13421-2;Q13421-3	.;MSLN_HUMAN;.;.	G	116	ENSP00000442965:D116G;ENSP00000372313:D116G	ENSP00000372313:D116G	D	+	2	0	MSLN	754694	0.000000	0.05858	0.045000	0.18777	0.409000	0.31022	0.109000	0.15417	0.923000	0.37045	0.459000	0.35465	GAC		0.682	MSLN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000109253.2			41	131	0	0	0	1	0	41	131					G	814693	A	G	814693	3	3	384	1	0	0	0	0	1	0	0	0	9881	275	10	4	365	4	MSLN	16	814693	Missense_Mutation	SNP	A	TCGA-V1-A9OA-01A-11D-A41K-08		814693	89540060	17	18882											
SETD6	79918	broad.mit.edu	37	chr16	58552021	58552021	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agattttcaacacttatgggCaaatggctaactggcaactg	13	11	9	8	0	1	1	1	0	0	1	1	1	1	1	0	3	3	3	0	3	5	4			TCGA-V1-A9OA-01A-11D-A41K-08	TCGA-V1-A9OA-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47d4bed8-db46-45d2-8e56-de72205f011d	d84f00dc-8c0d-4a2a-99e3-836a59aba5b7	g.chr16:58552021C>A	ENST00000219315.4	+	6	909	c.859C>A	c.(859-861)Caa>Aaa	p.Q287K	SETD6_ENST00000394266.4_Missense_Mutation_p.Q218K|SETD6_ENST00000310682.2_Missense_Mutation_p.Q263K|SETD6_ENST00000418480.1_Intron			Q8TBK2	SETD6_HUMAN	SET domain containing 6	287					negative regulation of NF-kappaB transcription factor activity (GO:0032088)|peptidyl-lysine monomethylation (GO:0018026)|regulation of inflammatory response (GO:0050727)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	NF-kappaB binding (GO:0051059)|protein-lysine N-methyltransferase activity (GO:0016279)			endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	7						CACTTATGGGCAAATGGCTAA	0.463																																						ENST00000394266.4																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	7						c.(652-654)Caa>Aaa		SET domain containing 6							151	122	132					16																	58552021		2198	4300	6498	SO:0001583	missense	79918				negative regulation of NF-kappaB transcription factor activity|peptidyl-lysine monomethylation|regulation of inflammatory response	nucleus	NF-kappaB binding|protein-lysine N-methyltransferase activity	g.chr16:58552021C>A	AK024801	CCDS10798.1, CCDS54013.1	16q21	2008-02-05			ENSG00000103037	ENSG00000103037			26116	protein-coding gene	gene with protein product						12477932	Standard	NM_024860		Approved	FLJ21148	uc002ens.3	Q8TBK2	OTTHUMG00000150276	ENST00000219315.4:c.859C>A	16.37:g.58552021C>A	ENSP00000219315:p.Gln287Lys					SETD6_ENST00000418480.1_Intron|SETD6_ENST00000219315.4_Missense_Mutation_p.Q287K|SETD6_ENST00000310682.2_Missense_Mutation_p.Q263K	p.Q218K			Q8TBK2	SETD6_HUMAN			7	708	+			287			SET.		A8K380|B5ME38|Q9H787	Missense_Mutation	SNP	ENST00000219315.4	37	c.652C>A	CCDS54013.1	.	.	.	.	.	.	.	.	.	.	C	17.54	3.415138	0.62511	.	.	ENSG00000103037	ENST00000310682;ENST00000394266;ENST00000219315	T;T;T	0.13307	2.6;2.6;2.6	5.72	5.72	0.89469	SET domain (1);	0.000000	0.85682	D	0.000000	T	0.18087	0.0434	M	0.78637	2.42	0.58432	D	0.999997	P;P	0.40834	0.73;0.625	B;B	0.34779	0.189;0.092	T	0.14868	-1.0457	10	0.09338	T	0.73	-10.8187	18.875	0.92331	0.0:1.0:0.0:0.0	.	287;263	Q8TBK2;Q8TBK2-2	SETD6_HUMAN;.	K	263;218;287	ENSP00000310082:Q263K;ENSP00000377809:Q218K;ENSP00000219315:Q287K	ENSP00000219315:Q287K	Q	+	1	0	SETD6	57109522	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.354000	0.59417	2.689000	0.91719	0.650000	0.86243	CAA		0.463	SETD6-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000317274.2	NM_024860		4	82	1	0	0.150653	1	0.150653	4	82					A	58552021	C	A	58552021	3	1	384	1	0	0	0	0	1	0	0	0	14135	711	25	5	881	5	SETD6	16	58552021	Missense_Mutation	SNP	C	TCGA-V1-A9OA-01A-11D-A41K-08	57737328	58552021	31802732	18	18883											
KRT27	342574	broad.mit.edu	37	chr17	38935957	38935957	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	caagcgtggttttaccttttCgttgaaccaggcctccgcgt	6	13	10	12	4	0	1	0	1	0	0	2	1	1	1	4	2	3	2	4	2	3	5			TCGA-V1-A9OA-01A-11D-A41K-08	TCGA-V1-A9OA-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47d4bed8-db46-45d2-8e56-de72205f011d	d84f00dc-8c0d-4a2a-99e3-836a59aba5b7	g.chr17:38935957C>T	ENST00000301656.3	-	4	881	c.841G>A	c.(841-843)Gaa>Aaa	p.E281K	KRT27_ENST00000540723.1_5'Flank	NM_181537.3	NP_853515.2			keratin 27											NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(3)|skin(1)|stomach(1)	21		Breast(137;0.000812)				TTTACCTTTTCGTTGAACCAG	0.657																																						ENST00000301656.3																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(3)|skin(1)|stomach(1)	21						c.(841-843)Gaa>Aaa		keratin 27							35	34	34					17																	38935957		2203	4300	6503	SO:0001583	missense	342574					cytoplasm|intermediate filament	structural molecule activity	g.chr17:38935957C>T	AJ564206	CCDS11375.1	17q21.2	2013-01-16	2006-07-17	2006-07-17	ENSG00000171446	ENSG00000171446		"-", "Intermediate filaments type I, keratins (acidic)"	30841	protein-coding gene	gene with protein product			"keratin 25C"	KRT25C		16831889	Standard	NM_181537		Approved		uc002hvg.3	Q7Z3Y8	OTTHUMG00000133371	ENST00000301656.3:c.841G>A	17.37:g.38935957C>T	ENSP00000301656:p.Glu281Lys						p.E281K	NM_181537.3	NP_853515.2	Q7Z3Y8	K1C27_HUMAN			4	881	-		Breast(137;0.000812)	281			Coil 2.|Rod.			Missense_Mutation	SNP	ENST00000301656.3	37	c.841G>A	CCDS11375.1	.	.	.	.	.	.	.	.	.	.	C	13.29	2.193762	0.38707	.	.	ENSG00000171446	ENST00000301656	D	0.88509	-2.39	5.51	5.51	0.81932	Filament (1);	0.096993	0.44902	D	0.000407	T	0.78007	0.4216	N	0.05487	-0.04	0.09310	N	1	B	0.27068	0.167	B	0.31812	0.136	T	0.66236	-0.5974	10	0.30078	T	0.28	.	10.3483	0.43920	0.0:0.8492:0.0:0.1508	.	281	Q7Z3Y8	K1C27_HUMAN	K	281	ENSP00000301656:E281K	ENSP00000301656:E281K	E	-	1	0	KRT27	36189483	0.000000	0.05858	0.587000	0.28692	0.593000	0.36681	-0.114000	0.10757	2.750000	0.94351	0.585000	0.79938	GAA		0.657	KRT27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257216.1	NM_181537		7	22	0	0	0	1	0	7	22					T	38935957	C	T	38935957	3	4	384	1	0	0	0	0	1	0	0	0	8464	893	31	2	558	2	KRT27	17	38935957	Missense_Mutation	SNP	C	TCGA-V1-A9OA-01A-11D-A41K-08		38935957	42259253	19	18884											
ABCA5	23461	broad.mit.edu	37	chr17	67246065	67246065	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccttcttccagcttaaaaaaAgattgtgaaagggactgaac	15	10	8	8	0	1	3	0	2	1	1	2	4	2	4	2	1	2	1	2	1	6	4			TCGA-V1-A9OA-01A-11D-A41K-08	TCGA-V1-A9OA-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47d4bed8-db46-45d2-8e56-de72205f011d	d84f00dc-8c0d-4a2a-99e3-836a59aba5b7	g.chr17:67246065A>G	ENST00000392676.3	-	37	4810	c.4746T>C	c.(4744-4746)tcT>tcC	p.S1582S	ABCA5_ENST00000392677.2_Silent_p.S1583S|ABCA5_ENST00000588877.1_Silent_p.S1582S			Q8WWZ7	ABCA5_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 5	1582					cholesterol efflux (GO:0033344)|high-density lipoprotein particle remodeling (GO:0034375)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|reverse cholesterol transport (GO:0043691)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|lysosome (GO:0005764)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(18)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	54	Breast(10;3.72e-11)				Tacrolimus(DB00864)	GCTTAAAAAAAGATTGTGAAA	0.284																																						ENST00000392676.3																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(18)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	54						c.(4744-4746)tcT>tcC		ATP-binding cassette, sub-family A (ABC1), member 5							30	32	31					17																	67246065		2199	4282	6481	SO:0001819	synonymous_variant	23461				cholesterol efflux|high-density lipoprotein particle remodeling|negative regulation of macrophage derived foam cell differentiation	Golgi membrane|integral to membrane|late endosome membrane|lysosomal membrane	ATP binding|ATPase activity	g.chr17:67246065A>G	U66672	CCDS11685.1	17q24.3	2012-03-14			ENSG00000154265	ENSG00000154265		"ATP binding cassette transporters / subfamily A"	35	protein-coding gene	gene with protein product		612503				8894702	Standard	NM_172232		Approved	EST90625	uc002jig.2	Q8WWZ7		ENST00000392676.3:c.4746T>C	17.37:g.67246065A>G						ABCA5_ENST00000392677.2_Silent_p.S1583S|ABCA5_ENST00000588877.1_Silent_p.S1582S	p.S1582S			Q8WWZ7	ABCA5_HUMAN			37	4810	-	Breast(10;3.72e-11)		1582					Q8IVJ2|Q96LJ1|Q96MS4|Q96PZ9|Q9NY14	Silent	SNP	ENST00000392676.3	37	c.4746T>C	CCDS11685.1																																																																																				0.284	ABCA5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000450654.1	NM_018672		9	33	0	0	0	1	0	9	33					G	67246065	A	G	67246065	2	3	384	1	0	0	0	0	0	0	0	1	35	59	3	4		4	ABCA5	17	67246065	Silent	SNP	A	TCGA-V1-A9OA-01A-11D-A41K-08	28310108	67246065	13949145	20	18885											
MYOM1	8736	broad.mit.edu	37	chr18	3094169	3094169	+	Splice_Site	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	taaacagtgtaaaacctaccGggccttcaaaaatttccttc	14	11	5	11	1	1	0	1	0	0	0	3	0	2	0	4	1	3	1	4	1	7	6	rs200808890		TCGA-V1-A9OA-01A-11D-A41K-08	TCGA-V1-A9OA-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47d4bed8-db46-45d2-8e56-de72205f011d	d84f00dc-8c0d-4a2a-99e3-836a59aba5b7	g.chr18:3094169G>C	ENST00000356443.4	-	26	4196	c.3863C>G	c.(3862-3864)cCg>cGg	p.P1288R	MYOM1_ENST00000261606.7_Splice_Site_p.P1192R|MYOM1_ENST00000400569.3_Splice_Site_p.P1288R|RNU7-25P_ENST00000516544.1_RNA	NM_003803.3|NM_019856.1	NP_003794.3|NP_062830.1	P52179	MYOM1_HUMAN	myomesin 1	1288					muscle contraction (GO:0006936)	M band (GO:0031430)|striated muscle myosin thick filament (GO:0005863)	identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|structural constituent of muscle (GO:0008307)	p.P1288R(1)		NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						AAAACCTACCGGGCCTTCAAA	0.408																																						ENST00000356443.4																			1	Substitution - Missense(1)	p.P1288R(1)	prostate(1)	NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						c.e26+1		myomesin 1							72	69	70					18																	3094169		1812	4083	5895	SO:0001630	splice_region_variant	8736					striated muscle myosin thick filament	structural constituent of muscle	g.chr18:3094169G>C	AF185573	CCDS45823.1, CCDS45824.1	18p11.31	2014-09-17	2012-10-17		ENSG00000101605	ENSG00000101605		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	7613	protein-coding gene	gene with protein product	"skelemin"	603508	"myomesin 1 (skelemin) (185kD)", "myomesin 1 (skelemin) 185kDa", "myomesin 1, 185kDa"			9806852	Standard	NM_019856		Approved		uc002klp.3	P52179	OTTHUMG00000178209	ENST00000356443.4:c.3864+1C>G	18.37:g.3094169G>C						MYOM1_ENST00000400569.3_Splice_Site_p.P1288_splice|MYOM1_ENST00000261606.7_Splice_Site_p.P1192_splice	p.P1288_splice	NM_003803.3|NM_019856.1	NP_003794.3|NP_062830.1	P52179	MYOM1_HUMAN			26	4196	-			1288					Q14BD6|Q6H969|Q6ZUU0	Splice_Site	SNP	ENST00000356443.4	37	c.3864_splice	CCDS45824.1	.	.	.	.	.	.	.	.	.	.	G	15.39	2.820808	0.50633	.	.	ENSG00000101605	ENST00000356443;ENST00000400569;ENST00000261606	T;T;T	0.04758	3.56;3.56;3.56	5.55	4.66	0.58398	Immunoglobulin-like fold (1);	0.322273	0.36778	N	0.002410	T	0.06050	0.0157	L	0.42245	1.32	0.44918	D	0.997933	P;P	0.45176	0.852;0.769	B;B	0.42462	0.388;0.173	T	0.51196	-0.8736	10	0.20046	T	0.44	.	12.4283	0.55559	0.0:0.0:0.5401:0.4598	.	1192;1288	P52179-2;P52179	.;MYOM1_HUMAN	R	1288;1288;1192	ENSP00000348821:P1288R;ENSP00000383413:P1288R;ENSP00000261606:P1192R	ENSP00000261606:P1192R	P	-	2	0	MYOM1	3084169	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	2.913000	0.48790	1.534000	0.49203	0.655000	0.94253	CCG		0.408	MYOM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000441037.2	NM_003803	Missense_Mutation	4	53	0	0	0	1	0	4	53					C	3094169	G	C	3094169	5	2	384	1	0	0	0	0	0	0	1	0	10091	1130	39	5	1246	5	MYOM1	18	3094169	Splice_Site	SNP	G	TCGA-V1-A9OA-01A-11D-A41K-08		3094169	74983079	21	18886											
CRTC1	23373	broad.mit.edu	37	chr19	18870928	18870928	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccacttcccctccccgctccCgaccccgctggaccccgagg	4	5	8	24	4	0	0	0	0	0	0	3	3	3	1	10	2	0	2	10	2	0	1			TCGA-V1-A9OA-01A-11D-A41K-08	TCGA-V1-A9OA-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47d4bed8-db46-45d2-8e56-de72205f011d	d84f00dc-8c0d-4a2a-99e3-836a59aba5b7	g.chr19:18870928C>T	ENST00000321949.8	+	8	802	c.776C>T	c.(775-777)cCg>cTg	p.P259L	CRTC1_ENST00000338797.6_Missense_Mutation_p.P275L|CRTC1_ENST00000601916.1_Missense_Mutation_p.P184L|CRTC1_ENST00000594658.1_Missense_Mutation_p.P218L	NM_015321.2	NP_056136.2			CREB regulated transcription coactivator 1										CRTC1/MAML2(516)	NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|skin(1)	19						TCCCCGCTCCCGACCCCGCTG	0.682																																						ENST00000338797.6																		CRTC1/MAML2(516)	0				NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|skin(1)	19						c.(823-825)cCg>cTg		CREB regulated transcription coactivator 1							65	76	72					19																	18870928		2203	4300	6503	SO:0001583	missense	23373				interspecies interaction between organisms|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	cAMP response element binding protein binding|protein binding	g.chr19:18870928C>T	AY040323	CCDS32963.1, CCDS42525.1	19p13	2012-07-31	2005-11-24	2005-11-24					16062	protein-coding gene	gene with protein product	"transducer of regulated cAMP response element-binding protein"	607536	"mucoepidermoid carcinoma translocated 1"	MECT1		12539049, 14536081, 14506290	Standard	NM_015321		Approved	KIAA0616, FLJ14027, TORC1	uc010ebv.3	Q6UUV9		ENST00000321949.8:c.776C>T	19.37:g.18870928C>T	ENSP00000323332:p.Pro259Leu					CRTC1_ENST00000594658.1_Missense_Mutation_p.P218L|CRTC1_ENST00000601916.1_Missense_Mutation_p.P184L|CRTC1_ENST00000321949.8_Missense_Mutation_p.P259L	p.P275L	NM_001098482.1	NP_001091952.1	Q6UUV9	CRTC1_HUMAN			9	849	+			259						Missense_Mutation	SNP	ENST00000321949.8	37	c.824C>T	CCDS32963.1	.	.	.	.	.	.	.	.	.	.	C	25.3	4.624746	0.87560	.	.	ENSG00000105662	ENST00000262813;ENST00000338797;ENST00000321949	T;T	0.55413	0.52;0.52	4.6	4.6	0.57074	Transducer of regulated CREB activity, middle domain (1);	0.056150	0.64402	D	0.000001	T	0.74283	0.3696	M	0.83953	2.67	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	P;D;D	0.72075	0.908;0.937;0.976	T	0.79671	-0.1706	10	0.72032	D	0.01	-27.5208	16.4152	0.83731	0.0:1.0:0.0:0.0	.	259;275;259	Q6UUV9-3;Q6UUV9-2;Q6UUV9	.;.;CRTC1_HUMAN	L	259;275;259	ENSP00000345001:P275L;ENSP00000323332:P259L	ENSP00000262813:P259L	P	+	2	0	CRTC1	18731928	0.998000	0.40836	0.946000	0.38457	0.619000	0.37552	7.470000	0.80973	2.119000	0.64992	0.462000	0.41574	CCG		0.682	CRTC1-002	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465151.3	NM_025021		15	38	0	0	0	1	0	15	38					T	18870928	C	T	18870928	3	4	384	1	0	0	0	0	1	0	0	0	3899	652	23	2	858	2	CRTC1	19	18870928	Missense_Mutation	SNP	C	TCGA-V1-A9OA-01A-11D-A41K-08		18870928	40258055	22	18887											
SAPS1	22870	broad.mit.edu	37	chr19	55748179	55748179	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgtagcatatctcaagtaggTtggcgttgggctgcagggca	8	11	15	7	1	1	0	1	0	1	0	2	0	1	0	0	4	2	8	0	4	4	5			TCGA-V1-A9OA-01A-11D-A41K-08	TCGA-V1-A9OA-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47d4bed8-db46-45d2-8e56-de72205f011d	d84f00dc-8c0d-4a2a-99e3-836a59aba5b7	g.chr19:55748179T>C	ENST00000412770.2	-	17	2386	c.1820A>G	c.(1819-1821)aAc>aGc	p.N607S	AC010327.1_ENST00000581390.1_RNA|PPP6R1_ENST00000587283.1_Missense_Mutation_p.N607S	NM_014931.3	NP_055746.3	Q9UPN7	PP6R1_HUMAN	protein phosphatase 6, regulatory subunit 1	607					regulation of phosphoprotein phosphatase activity (GO:0043666)	cytoplasm (GO:0005737)	protein phosphatase binding (GO:0019903)			breast(1)	1						CTCAAGTAGGTTGGCGTTGGG	0.612																																						ENST00000412770.2																			0				breast(1)	1						c.(1819-1821)aAc>aGc		protein phosphatase 6, regulatory subunit 1							93	93	93					19																	55748179		2031	4183	6214	SO:0001583	missense	22870				regulation of phosphoprotein phosphatase activity	cytoplasm	protein phosphatase binding	g.chr19:55748179T>C	AB029038	CCDS46186.1	19q13.42	2012-04-17	2010-06-28	2010-06-28	ENSG00000105063	ENSG00000105063		"Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits"	29195	protein-coding gene	gene with protein product		610875	"KIAA1115", "SAPS domain family, member 1"	KIAA1115, SAPS1		16769727	Standard	NM_014931		Approved	SAP190	uc002qjw.4	Q9UPN7		ENST00000412770.2:c.1820A>G	19.37:g.55748179T>C	ENSP00000414202:p.Asn607Ser					PPP6R1_ENST00000587283.1_Missense_Mutation_p.N607S	p.N607S	NM_014931.3	NP_055746.3	Q9UPN7	PP6R1_HUMAN			17	2386	-			607					Q2M2H3|Q504V2|Q6NVJ6|Q9BU97	Missense_Mutation	SNP	ENST00000412770.2	37	c.1820A>G	CCDS46186.1	.	.	.	.	.	.	.	.	.	.	T	12.42	1.932315	0.34096	.	.	ENSG00000105063	ENST00000412770	T	0.43294	0.95	4.83	3.81	0.43845	.	0.086123	0.45606	D	0.000342	T	0.25680	0.0625	N	0.14661	0.345	0.29639	N	0.844875	P	0.41710	0.76	B	0.44108	0.441	T	0.07443	-1.0772	10	0.09338	T	0.73	-40.4134	10.0229	0.42055	0.0:0.0861:0.0:0.9139	.	607	Q9UPN7	PP6R1_HUMAN	S	607	ENSP00000414202:N607S	ENSP00000414202:N607S	N	-	2	0	PPP6R1	60439991	1.000000	0.71417	1.000000	0.80357	0.889000	0.51656	0.693000	0.25497	2.161000	0.67846	0.460000	0.39030	AAC		0.612	PPP6R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452663.1	NM_014931		19	44	0	0	0	1	0	19	44					C	55748179	T	C	55748179	3	2	384	1	0	0	0	0	1	0	0	0	13836	1725	60	4	857	4	SAPS1	19	55748179	Missense_Mutation	SNP	T	TCGA-V1-A9OA-01A-11D-A41K-08	36877251	55748179	3380804	23	18888											
COL18A1	80781	broad.mit.edu	37	chr21	46888241	46888241	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cagacggatgaccccgacgtCgggctggcctacgtctttgg	6	8	14	13	5	1	2	0	1	1	1	2	4	1	3	3	4	1	1	3	4	1	2	rs551067516	byFrequency	TCGA-V1-A9OA-01A-11D-A41K-08	TCGA-V1-A9OA-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47d4bed8-db46-45d2-8e56-de72205f011d	d84f00dc-8c0d-4a2a-99e3-836a59aba5b7	g.chr21:46888241C>T	ENST00000359759.4	+	2	1458	c.1437C>T	c.(1435-1437)gtC>gtT	p.V479V	COL18A1_ENST00000355480.5_Silent_p.V244V|COL18A1_ENST00000400337.2_Silent_p.V64V			P39060	COIA1_HUMAN	collagen, type XVIII, alpha 1	479	Laminin G-like.				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|endothelial cell morphogenesis (GO:0001886)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of cell proliferation (GO:0008285)|organ morphogenesis (GO:0009887)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell apoptotic process (GO:2000353)|response to drug (GO:0042493)|response to hydrostatic pressure (GO:0051599)|visual perception (GO:0007601)	basement membrane (GO:0005604)|collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|structural molecule activity (GO:0005198)			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25				Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929)		ACCCCGACGTCGGGCTGGCCT	0.627													C|||	2	0.000399361	0.0015	0	5008	,	,		17289	0		0	False		,,,				2504	0					ENST00000359759.4																			0				breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25						c.(1435-1437)gtC>gtT		collagen, type XVIII, alpha 1							54	62	59					21																	46888241		1992	4155	6147	SO:0001819	synonymous_variant	80781				cell adhesion|negative regulation of cell proliferation|organ morphogenesis|visual perception	collagen|extracellular space	extracellular matrix structural constituent|metal ion binding|protein binding	g.chr21:46888241C>T		CCDS42971.1, CCDS42972.1	21q22.3	2013-01-16			ENSG00000182871	ENSG00000182871		"Collagens"	2195	protein-coding gene	gene with protein product	"endostatin"	120328	"Knobloch syndrome, type 1"	KNO		8188291, 8776601, 10942434, 17546652	Standard	NM_130445		Approved	KS, KNO1	uc002zhi.3	P39060	OTTHUMG00000090407	ENST00000359759.4:c.1437C>T	21.37:g.46888241C>T						COL18A1_ENST00000355480.5_Silent_p.V244V|COL18A1_ENST00000400337.2_Silent_p.V64V	p.V479V			P39060	COIA1_HUMAN		Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929)	2	1458	+			479			TSP N-terminal.		A8MVI4|Q58EX6|Q6RZ39|Q6RZ40|Q6RZ41|Q8N4S4|Q8WXI5|Q96T70|Q9UK38|Q9Y6Q7|Q9Y6Q8	Silent	SNP	ENST00000359759.4	37	c.1437C>T																																																																																					0.627	COL18A1-201	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000206827.1			19	48	0	0	0	1	0	19	48					T	46888241	C	T	46888241	2	4	384	1	0	0	0	0	0	0	0	1	3675	871	31	2		2	COL18A1	21	46888241	Silent	SNP	C	TCGA-V1-A9OA-01A-11D-A41K-08		46888241	1241654	24	18889											
ATP2B3	492	broad.mit.edu	37	chrX	152826170	152826170	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	catcgacagcgggaggaatgCgcccctgcactcgccaccct	8	5	11	17	4	0	0	0	0	0	0	2	3	0	2	4	2	3	1	4	2	1	0			TCGA-V1-A9OA-01A-11D-A41K-08	TCGA-V1-A9OA-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47d4bed8-db46-45d2-8e56-de72205f011d	d84f00dc-8c0d-4a2a-99e3-836a59aba5b7	g.chrX:152826170C>T	ENST00000349466.2	+	18	3202	c.2876C>T	c.(2875-2877)gCg>gTg	p.A959V	ATP2B3_ENST00000370186.1_Missense_Mutation_p.A945V|ATP2B3_ENST00000370181.2_Missense_Mutation_p.A945V|ATP2B3_ENST00000460549.1_3'UTR|ATP2B3_ENST00000393842.1_Missense_Mutation_p.A945V|ATP2B3_ENST00000359149.3_Missense_Mutation_p.A959V|ATP2B3_ENST00000263519.4_Missense_Mutation_p.A959V			Q16720	AT2B3_HUMAN	ATPase, Ca++ transporting, plasma membrane 3	959					blood coagulation (GO:0007596)|cell death (GO:0008219)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)|transport (GO:0006810)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|metal ion binding (GO:0046872)	p.A959V(6)|p.A945V(2)		NS(2)|breast(5)|endometrium(7)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(3)	50	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GGGAGGAATGCGCCCCTGCAC	0.562																																						ENST00000370186.1																			8	Substitution - Missense(8)	p.A959V(6)|p.A945V(2)	lung(8)	NS(2)|breast(5)|endometrium(7)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(3)	50						c.(2833-2835)gCg>gTg		ATPase, Ca++ transporting, plasma membrane 3							192	146	161					X																	152826170		2203	4300	6503	SO:0001583	missense	492				ATP biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding	g.chrX:152826170C>T	U60414	CCDS14722.1, CCDS35440.1	Xq28	2014-07-18			ENSG00000067842	ENSG00000067842	3.6.3.8	"ATPases / P-type"	816	protein-coding gene	gene with protein product	"plasma membrane calcium-transporting ATPase 3", "cilia and flagella associated protein 39"	300014	"spinocerebellar ataxia, X-linked 1", "cerebellar ataxia 2 (X-linked)"	SCAX1, CLA2		8187550, 22912398	Standard	NM_021949		Approved	PMCA3, CFAP39	uc004fht.1	Q16720	OTTHUMG00000024202	ENST00000349466.2:c.2876C>T	X.37:g.152826170C>T	ENSP00000343886:p.Ala959Val					ATP2B3_ENST00000349466.2_Missense_Mutation_p.A959V|ATP2B3_ENST00000263519.4_Missense_Mutation_p.A959V|ATP2B3_ENST00000393842.1_Missense_Mutation_p.A945V|ATP2B3_ENST00000370181.2_Missense_Mutation_p.A945V|ATP2B3_ENST00000460549.1_3'UTR|ATP2B3_ENST00000359149.3_Missense_Mutation_p.A959V	p.A945V			Q16720	AT2B3_HUMAN			17	3160	+	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		959					B7WNR8|B7WNY5|Q12995|Q16858	Missense_Mutation	SNP	ENST00000349466.2	37	c.2834C>T	CCDS35440.1	.	.	.	.	.	.	.	.	.	.	C	15.62	2.888376	0.52014	.	.	ENSG00000067842	ENST00000370186;ENST00000349466;ENST00000393842;ENST00000359149;ENST00000263519;ENST00000370181	D;D;D;D;D;D	0.88975	-2.45;-2.45;-2.45;-2.45;-2.45;-2.45	4.99	4.99	0.66335	ATPase, P-type cation-transporter, C-terminal (1);ATPase, P-type,  transmembrane domain (1);	0.057447	0.64402	D	0.000002	D	0.87849	0.6281	M	0.65677	2.01	0.47094	D	0.999311	P;P	0.38167	0.621;0.568	B;B	0.35727	0.209;0.189	D	0.88977	0.3405	10	0.59425	D	0.04	-21.8113	16.126	0.81395	0.0:1.0:0.0:0.0	.	959;959	Q16720;Q16720-2	AT2B3_HUMAN;.	V	945;959;945;959;959;945	ENSP00000359205:A945V;ENSP00000343886:A959V;ENSP00000377425:A945V;ENSP00000352062:A959V;ENSP00000263519:A959V;ENSP00000359200:A945V	ENSP00000263519:A959V	A	+	2	0	ATP2B3	152479364	1.000000	0.71417	0.021000	0.16686	0.027000	0.11550	7.798000	0.85924	2.057000	0.61298	0.519000	0.50382	GCG		0.562	ATP2B3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060957.1	NM_021949		3	35	0	0	0	1	0	3	35					T	152826170	C	T	152826170	3	4	384	1	0	0	0	0	1	0	0	0	1141	768	27	1	2942	1	ATP2B3	23	152826170	Missense_Mutation	SNP	C	TCGA-V1-A9OA-01A-11D-A41K-08		152826170	2444390	25	18890											
CLCN6	1185	broad.mit.edu	37	chr1	11888182	11888182	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gctcttttgttccatgtctgCcaccttcaccctcaacttct	5	16	4	16	0	5	0	2	0	3	0	6	0	6	0	4	0	2	2	4	0	1	5			TCGA-V1-A9OF-01A-11D-A41K-08	TCGA-V1-A9OF-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfdee3c3-dfff-4ca8-9750-946c41e688ee	37744749-dd3a-43dc-b690-4270748f7885	g.chr1:11888182C>T	ENST00000346436.6	+	11	912	c.860C>T	c.(859-861)gCc>gTc	p.A287V	CLCN6_ENST00000376492.3_3'UTR|CLCN6_ENST00000312413.6_Missense_Mutation_p.A287V|CLCN6_ENST00000376496.3_Missense_Mutation_p.A287V|CLCN6_ENST00000376487.3_Missense_Mutation_p.A265V	NM_001286.3	NP_001277	P51797	CLCN6_HUMAN	chloride channel, voltage-sensitive 6	287					cell volume homeostasis (GO:0006884)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|regulation of anion transport (GO:0044070)|response to mechanical stimulus (GO:0009612)|signal transduction (GO:0007165)|transmembrane transport (GO:0055085)	endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	antiporter activity (GO:0015297)|ATP binding (GO:0005524)|voltage-gated chloride channel activity (GO:0005247)			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(4)	36	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000816)|KIRC - Kidney renal clear cell carcinoma(229;0.00268)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)		TCCATGTCTGCCACCTTCACC	0.512																																						ENST00000346436.6																			0				cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(4)	36						c.(859-861)gCc>gTc		chloride channel, voltage-sensitive 6							243	250	248					1																	11888182		2203	4300	6503	SO:0001583	missense	1185				cell volume homeostasis|signal transduction	endosome membrane|integral to membrane	antiporter activity|ATP binding|voltage-gated chloride channel activity	g.chr1:11888182C>T	X83378	CCDS138.1, CCDS57972.1	1p36	2012-09-26	2012-02-23		ENSG00000011021	ENSG00000011021		"Ion channels / Chloride channels : Voltage-sensitive"	2024	protein-coding gene	gene with protein product		602726	"chloride channel 6"			8543009	Standard	NM_001286		Approved	CLC-6, KIAA0046, ClC-6	uc001ate.5	P51797	OTTHUMG00000002299	ENST00000346436.6:c.860C>T	1.37:g.11888182C>T	ENSP00000234488:p.Ala287Val					CLCN6_ENST00000376487.3_Missense_Mutation_p.A265V|CLCN6_ENST00000312413.6_Missense_Mutation_p.A287V|CLCN6_ENST00000376496.3_Missense_Mutation_p.A287V|CLCN6_ENST00000376492.3_3'UTR	p.A287V	NM_001286.3	NP_001277.1	P51797	CLCN6_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000816)|KIRC - Kidney renal clear cell carcinoma(229;0.00268)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)	11	912	+	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)	287					A8K1T4|B4DGT7|F8W9R3|O60818|O60819|O60820|O60821|P78520|P78521|Q17R81|Q5SNW2|Q5SNW3|Q5SNX1|Q5SNX2|Q5SNX3|Q99427|Q99428|Q99429	Missense_Mutation	SNP	ENST00000346436.6	37	c.860C>T	CCDS138.1	.	.	.	.	.	.	.	.	.	.	C	35	5.576306	0.96553	.	.	ENSG00000011021	ENST00000312413;ENST00000346436;ENST00000376487;ENST00000376496;ENST00000376492	D;D;D;D	0.96300	-3.97;-3.97;-3.97;-3.97	5.59	5.59	0.84812	Chloride channel, core (2);	0.045750	0.85682	D	0.000000	D	0.97417	0.9155	.	.	.	0.80722	D	1	D;D;D	0.69078	0.992;0.997;0.994	P;D;P	0.66196	0.801;0.942;0.875	D	0.96180	0.9130	9	0.21540	T	0.41	-36.8339	18.5938	0.91223	0.0:1.0:0.0:0.0	.	265;287;287	F8W9R3;P51797-3;P51797	.;.;CLCN6_HUMAN	V	287;287;265;287;287	ENSP00000308367:A287V;ENSP00000234488:A287V;ENSP00000365670:A265V;ENSP00000365679:A287V	ENSP00000308367:A287V	A	+	2	0	CLCN6	11810769	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.466000	0.80914	2.625000	0.88918	0.655000	0.94253	GCC		0.512	CLCN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006639.2	NM_001286		10	270	0	0	0	1	0	10	270					T	11888182	C	T	11888182	3	4	385	1	0	0	0	0	1	0	0	0	3467	748	26	3	912	3	CLCN6	1	11888182	Missense_Mutation	SNP	C	TCGA-V1-A9OF-01A-11D-A41K-08		11888182	237362439	1	18891											
PRAMEF18	645414	broad.mit.edu	37	chr1	13695960	13695960	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gctcggaggggctcaagacgGatgaagcgcagtgtaccatg	10	6	16	9	3	1	2	1	1	0	1	2	4	1	4	1	4	2	4	1	4	3	1			TCGA-V1-A9OF-01A-11D-A41K-08	TCGA-V1-A9OF-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfdee3c3-dfff-4ca8-9750-946c41e688ee	37744749-dd3a-43dc-b690-4270748f7885	g.chr1:13695960G>T	ENST00000376101.2	-	3	797	c.798C>A	c.(796-798)atC>atA	p.I266I	PRAMEF19_ENST00000540591.1_Silent_p.I335I			Q5SWL8	PRA19_HUMAN	PRAME family member 19	266					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)					lung(3)	3	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GCTCAAGACGGATGAAGCGCA	0.517																																						ENST00000540591.1																			0				lung(3)	3						c.(1003-1005)atC>atA		PRAME family member 19							8	8	8					1																	13695960		1915	3999	5914	SO:0001819	synonymous_variant	645414							g.chr1:13695960G>T			1p36.21	2013-01-17			ENSG00000204480	ENSG00000204480		"-"	24908	protein-coding gene	gene with protein product							Standard	NM_001099790		Approved	OTTHUMG00000007919	uc009vnu.1	Q5SWL8	OTTHUMG00000007919	ENST00000376101.2:c.798C>A	1.37:g.13695960G>T						PRAMEF19_ENST00000376101.2_Silent_p.I266I	p.I335I	NM_001099790.1	NP_001093260.2				UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)	3	1051	-	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)							Silent	SNP	ENST00000376101.2	37	c.1005C>A																																																																																					0.517	PRAMEF19-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000021794.2	NM_001099790		7	180	1	0	0.00448238	1	0.0046484	7	180					T	13695960	G	T	13695960	2	4	385	1	0	0	0	0	0	0	0	1	12433	1164	41	5		5	PRAMEF18	1	13695960	Silent	SNP	G	TCGA-V1-A9OF-01A-11D-A41K-08	1807778	13695960	235554661	2	18892											
KIAA1804	84451	broad.mit.edu	37	chr1	233482217	233482219	+	In_Frame_Del	DEL	GAC	GAC	-																															ttgagaagatagaacatgatGacatctgcaataaaactttg																										TCGA-V1-A9OF-01A-11D-A41K-08	TCGA-V1-A9OF-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfdee3c3-dfff-4ca8-9750-946c41e688ee	37744749-dd3a-43dc-b690-4270748f7885	g.chr1:233482217_233482219delGAC	ENST00000366624.3	+	2	1096_1098	c.835_837delGAC	c.(835-837)gacdel	p.D279del	MLK4_ENST00000366623.3_In_Frame_Del_p.D279del	NM_032435.2	NP_115811.2																					AGAACATGATGACATCTGCAATA	0.394																																						ENST00000366624.3																			0											c.(835-837)del																																						SO:0001651	inframe_deletion	0							g.chr1:233482217_233482219delGAC																												ENST00000366624.3:c.835_837delGAC	1.37:g.233482217_233482219delGAC	ENSP00000355583:p.Asp279del					MLK4_ENST00000366623.3_In_Frame_Del_p.D279del	p.D279del	NM_032435.2	NP_115811.2					2	1096_1098	+									In_Frame_Del	DEL	ENST00000366624.3	37	c.835_837delGAC	CCDS1598.1																																																																																				0.394	MLK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092495.1			19	40						19	40	---	---	---	---	-	233482219	GAC	-	233482217	7	5	385	1	0	1	0	1	0	0	0	0	8259	1290	45	0	841	0	KIAA1804	1	233482217	In_Frame_Del	DEL	GAC	TCGA-V1-A9OF-01A-11D-A41K-08	219786257	233482217	15768404	3	18893											
C2orf73	129852	broad.mit.edu	37	chr2	54587362	54587362	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acacggagcttttgtacagaGagagataaaaccaggcagta	16	7	11	7	1	0	2	0	0	0	2	0	5	0	3	1	2	3	4	1	2	4	5			TCGA-V1-A9OF-01A-11D-A41K-08	TCGA-V1-A9OF-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfdee3c3-dfff-4ca8-9750-946c41e688ee	37744749-dd3a-43dc-b690-4270748f7885	g.chr2:54587362G>C	ENST00000398634.2	+	5	569	c.527G>C	c.(526-528)aGa>aCa	p.R176T	C2orf73_ENST00000405749.1_Intron|C2orf73_ENST00000491538.1_3'UTR	NM_001100396.1	NP_001093866.1	Q8N5S3	CB073_HUMAN	chromosome 2 open reading frame 73	176										breast(2)	2						TTTGTACAGAGAGAGATAAAA	0.448																																						ENST00000398634.2																			0				breast(2)	2						c.(526-528)aGa>aCa		chromosome 2 open reading frame 73							46	45	45					2																	54587362		1907	4133	6040	SO:0001583	missense	129852							g.chr2:54587362G>C	BC031669, AK097617	CCDS46285.1	2p16.2	2008-07-07			ENSG00000177994	ENSG00000177994			26861	protein-coding gene	gene with protein product						14702039	Standard	NM_001100396		Approved	FLJ40298	uc002rxt.1	Q8N5S3	OTTHUMG00000151826	ENST00000398634.2:c.527G>C	2.37:g.54587362G>C	ENSP00000381631:p.Arg176Thr					C2orf73_ENST00000491538.1_3'UTR|C2orf73_ENST00000405749.1_Intron	p.R176T	NM_001100396.1	NP_001093866.1	Q8N5S3	CB073_HUMAN			5	569	+			176					A0AV79|A0AV81|Q8N7V4	Missense_Mutation	SNP	ENST00000398634.2	37	c.527G>C	CCDS46285.1	.	.	.	.	.	.	.	.	.	.	G	9.169	1.020696	0.19433	.	.	ENSG00000177994	ENST00000486488;ENST00000398634;ENST00000447328	T;T;T	0.30182	1.54;1.54;1.54	5.35	1.49	0.22878	.	0.354493	0.26366	N	0.024799	T	0.10551	0.0258	N	0.02391	-0.57	0.27569	N	0.949956	B;B	0.02656	0.0;0.0	B;B	0.06405	0.001;0.002	T	0.32929	-0.9888	10	0.12766	T	0.61	-21.3644	9.6479	0.39879	0.0:0.6598:0.1739:0.1663	.	118;176	B7ZM12;Q8N5S3	.;CB073_HUMAN	T	182;176;118	ENSP00000417971:R182T;ENSP00000381631:R176T;ENSP00000389570:R118T	ENSP00000381631:R176T	R	+	2	0	C2orf73	54440866	1.000000	0.71417	0.988000	0.46212	0.987000	0.75469	1.963000	0.40452	0.057000	0.16193	0.650000	0.86243	AGA		0.448	C2orf73-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324075.2	NM_001100396		3	8	0	0	0	1	0	3	8					C	54587362	G	C	54587362	3	2	385	1	0	0	0	0	1	0	0	0	2192	942	33	5	545	5	C2orf73	2	54587362	Missense_Mutation	SNP	G	TCGA-V1-A9OF-01A-11D-A41K-08		54587362	188612011	4	18894											
FER1L5	90342	broad.mit.edu	37	chr2	97364482	97364483	+	RNA	DEL	AG	AG	-																															ctgcagttcttggtttggccAgagagagaggacttccccca																										TCGA-V1-A9OF-01A-11D-A41K-08	TCGA-V1-A9OF-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfdee3c3-dfff-4ca8-9750-946c41e688ee	37744749-dd3a-43dc-b690-4270748f7885	g.chr2:97364482_97364483delAG	ENST00000457909.1	+	0	3934_3935							A0AVI2	FR1L5_HUMAN	fer-1-like family member 5							integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(9)|large_intestine(9)|lung(6)|ovary(2)|prostate(2)|skin(1)|urinary_tract(2)	38						TGGTTTGGCCAGAGAGAGAGGA	0.604																																						ENST00000457909.1																			0				NS(1)|autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(9)|large_intestine(9)|lung(6)|ovary(2)|prostate(2)|skin(1)|urinary_tract(2)	38								fer-1-like 5 (C. elegans)																																						90342					integral to membrane		g.chr2:97364482_97364483delAG	BC126368		2q11.2	2014-06-27	2014-06-27		ENSG00000249715	ENSG00000249715			19044	protein-coding gene	gene with protein product			"fer-1-like 5 (C. elegans)"				Standard	XM_006712826		Approved	DKFZp434I0121	uc010fia.3	A0AVI2	OTTHUMG00000154929		2.37:g.97364490_97364491delAG										A0AVI2	FR1L5_HUMAN			0	3934_3935	+								Q17RH2|Q6ZU24	RNA	DEL	ENST00000457909.1	37																																																																																						0.604	FER1L5-001	KNOWN	basic|exp_conf	retained_intron	pseudogene	OTTHUMT00000339030.1	NM_001077400		2	4						2	4	---	---	---	---	-	97364483	AG	-	97364482	6	5	385	0	1	1	0	1	0	0	0	0	5814	175	7	0		0	FER1L5	2	97364482	RNA	DEL	AG	TCGA-V1-A9OF-01A-11D-A41K-08	42777120	97364482	145834891	5	18895											
ENTPD3	956	broad.mit.edu	37	chr3	40465423	40465423	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggttacaaattcacagaggAgacttggccccaaatacact	14	8	8	11	1	1	2	1	0	0	2	1	3	1	2	2	3	2	1	2	3	4	4			TCGA-V1-A9OF-01A-11D-A41K-08	TCGA-V1-A9OF-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfdee3c3-dfff-4ca8-9750-946c41e688ee	37744749-dd3a-43dc-b690-4270748f7885	g.chr3:40465423A>C	ENST00000301825.3	+	10	1440	c.1322A>C	c.(1321-1323)gAg>gCg	p.E441A	ENTPD3-AS1_ENST00000425156.1_RNA|ENTPD3_ENST00000456402.1_Missense_Mutation_p.E441A|ENTPD3-AS1_ENST00000439293.1_RNA|ENTPD3-AS1_ENST00000452768.1_RNA|ENTPD3_ENST00000445129.1_Missense_Mutation_p.E441A	NM_001248.2	NP_001239.2	O75355	ENTP3_HUMAN	ectonucleoside triphosphate diphosphohydrolase 3	441					nucleoside diphosphate catabolic process (GO:0009134)|nucleoside triphosphate catabolic process (GO:0009143)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|nucleoside-diphosphatase activity (GO:0017110)|nucleoside-triphosphatase activity (GO:0017111)			endometrium(1)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18				KIRC - Kidney renal clear cell carcinoma(284;0.0605)|Kidney(284;0.0758)		TTCACAGAGGAGACTTGGCCC	0.418																																						ENST00000301825.3																			0				endometrium(1)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						c.(1321-1323)gAg>gCg		ectonucleoside triphosphate diphosphohydrolase 3							120	111	114					3																	40465423		2203	4300	6503	SO:0001583	missense	956					integral to membrane	ATP binding|hydrolase activity	g.chr3:40465423A>C	AF039917	CCDS2691.1, CCDS74919.1	3p21.3	2004-02-26			ENSG00000168032	ENSG00000168032			3365	protein-coding gene	gene with protein product		603161		CD39L3		9676430	Standard	XM_005265605		Approved	NTPDase-3, HB6	uc003ckd.4	O75355	OTTHUMG00000131390	ENST00000301825.3:c.1322A>C	3.37:g.40465423A>C	ENSP00000301825:p.Glu441Ala					ENTPD3_ENST00000456402.1_Missense_Mutation_p.E441A|ENTPD3-AS1_ENST00000425156.1_RNA|ENTPD3_ENST00000445129.1_Missense_Mutation_p.E441A|ENTPD3-AS1_ENST00000439293.1_RNA|ENTPD3-AS1_ENST00000452768.1_RNA	p.E441A	NM_001248.2	NP_001239.2	O75355	ENTP3_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0605)|Kidney(284;0.0758)	10	1440	+			441					B2R8D0|G5E9N0|O60495|Q8N6K2	Missense_Mutation	SNP	ENST00000301825.3	37	c.1322A>C	CCDS2691.1	.	.	.	.	.	.	.	.	.	.	A	11.86	1.766129	0.31228	.	.	ENSG00000168032	ENST00000301825;ENST00000456402;ENST00000445129	T;T;T	0.12039	2.72;2.72;2.72	5.47	3.03	0.35002	.	0.418208	0.29537	N	0.011865	T	0.11281	0.0275	L	0.45228	1.405	0.09310	N	1	B	0.14012	0.009	B	0.14023	0.01	T	0.22765	-1.0207	10	0.41790	T	0.15	-4.7099	7.096	0.25309	0.7728:0.148:0.0793:0.0	.	441	O75355	ENTP3_HUMAN	A	441	ENSP00000301825:E441A;ENSP00000401565:E441A;ENSP00000404671:E441A	ENSP00000301825:E441A	E	+	2	0	ENTPD3	40440427	0.999000	0.42202	0.012000	0.15200	0.830000	0.47004	4.536000	0.60636	0.427000	0.26145	0.482000	0.46254	GAG		0.418	ENTPD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254179.2	NM_001248		31	79	0	0	0	1	0	31	79					C	40465423	A	C	40465423	3	2	385	1	0	0	0	0	1	0	0	0	5140	304	11	5	1356	5	ENTPD3	3	40465423	Missense_Mutation	SNP	A	TCGA-V1-A9OF-01A-11D-A41K-08		40465423	157557007	6	18896											
NCKIPSD	51517	broad.mit.edu	37	chr3	48711990	48711991	+	Frame_Shift_Ins	INS	-	-	C																															aaggtgctagctgggagcctINScccccagcaccaggaattcc																										TCGA-V1-A9OF-01A-11D-A41K-08	TCGA-V1-A9OF-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfdee3c3-dfff-4ca8-9750-946c41e688ee	37744749-dd3a-43dc-b690-4270748f7885	g.chr3:48711990_48711991insC	ENST00000294129.2	-	13	2274_2275	c.2155_2156insG	c.(2155-2157)gagfs	p.E719fs	RP11-572O6.1_ENST00000607025.1_lincRNA|NCKIPSD_ENST00000416649.2_Frame_Shift_Ins_p.E712fs|NCKIPSD_ENST00000341520.4_Intron	NM_016453.2	NP_057537.1	Q9NZQ3	SPN90_HUMAN	NCK interacting protein with SH3 domain	719					cytoskeleton organization (GO:0007010)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|NLS-bearing protein import into nucleus (GO:0006607)|signal transduction (GO:0007165)	cytosol (GO:0005829)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	cytoskeletal protein binding (GO:0008092)			endometrium(1)|large_intestine(3)|lung(6)|prostate(1)	11				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		GCTGGGAGCCTCCCCCAGCACC	0.579																																						ENST00000294129.2																			0				endometrium(1)|large_intestine(3)|lung(6)|prostate(1)	11						c.(2155-2157)ggcfs		NCK interacting protein with SH3 domain																																				SO:0001589	frameshift_variant	51517				cytoskeleton organization|NLS-bearing substrate import into nucleus|signal transduction	intermediate filament|nucleus	cytoskeletal protein binding|SH3 domain binding	g.chr3:48711990_48711991insC	AF178432	CCDS2776.1, CCDS46827.1	3p21	2008-07-18			ENSG00000213672	ENSG00000213672			15486	protein-coding gene	gene with protein product	"dia interacting protein", "diaphanous protein interacting protein", "SH3 protein interacting with Nck, 90 kDa"	606671				10648423, 10619843	Standard	NM_016453		Approved	AF3P21, SPIN90, ORF1, WISH, WASLBP, DIP1	uc003cun.3	Q9NZQ3	OTTHUMG00000133542	ENST00000294129.2:c.2156dupG	3.37:g.48711995_48711995dupC	ENSP00000294129:p.Glu719fs					NCKIPSD_ENST00000341520.4_Intron|NCKIPSD_ENST00000416649.2_Frame_Shift_Ins_p.G712fs	p.G719fs	NM_016453.2	NP_057537.1	Q9NZQ3	SPN90_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)	13	2274_2275	-			719					B4DFL5|Q6GU34|Q6SPF3|Q8TC10|Q9UGM8	Frame_Shift_Ins	INS	ENST00000294129.2	37	c.2155_2156insG	CCDS2776.1																																																																																				0.579	NCKIPSD-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257520.1	NM_016453		2	4						2	4	---	---	---	---	C	48711991	-	C	48711990	7	5	385	1	0	1	1	0	0	0	0	0	10225	1551	54	0	16	0	NCKIPSD	3	48711990	Frame_Shift_Ins	INS	-	TCGA-V1-A9OF-01A-11D-A41K-08	8246567	48711990	149310440	7	18897											
BSN	8927	broad.mit.edu	37	chr3	49693080	49693080	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctgggctttgcggatggaCgctacctagggcagggcttg	5	9	17	10	2	0	0	0	0	0	0	0	2	0	2	2	5	2	4	2	5	2	4			TCGA-V1-A9OF-01A-11D-A41K-08	TCGA-V1-A9OF-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfdee3c3-dfff-4ca8-9750-946c41e688ee	37744749-dd3a-43dc-b690-4270748f7885	g.chr3:49693080C>T	ENST00000296452.4	+	5	6205	c.6091C>T	c.(6091-6093)Cgc>Tgc	p.R2031C		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	2031					synaptic transmission (GO:0007268)	axon (GO:0030424)|cell junction (GO:0030054)|dendrite (GO:0030425)|neuron projection terminus (GO:0044306)|nucleus (GO:0005634)|presynaptic cytoskeletal matrix assembled at active zones (GO:0048788)	metal ion binding (GO:0046872)			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		TGCGGATGGACGCTACCTAGG	0.602																																						ENST00000296452.4																			0				breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106						c.(6091-6093)Cgc>Tgc		bassoon presynaptic cytomatrix protein							164	149	154					3																	49693080		2203	4300	6503	SO:0001583	missense	8927				synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding	g.chr3:49693080C>T	AF052224	CCDS2800.1	3p21	2013-01-07	2013-01-07		ENSG00000164061	ENSG00000164061			1117	protein-coding gene	gene with protein product	"zinc finger protein 231", "neuronal double zinc finger protein"	604020	"bassoon (presynaptic cytomatrix protein)"	ZNF231		9806829, 10329005	Standard	NM_003458		Approved		uc003cxe.4	Q9UPA5	OTTHUMG00000133750	ENST00000296452.4:c.6091C>T	3.37:g.49693080C>T	ENSP00000296452:p.Arg2031Cys						p.R2031C	NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN		BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)	5	6205	+			2031					O43161|Q7LGH3	Missense_Mutation	SNP	ENST00000296452.4	37	c.6091C>T	CCDS2800.1	.	.	.	.	.	.	.	.	.	.	C	11.56	1.675397	0.29783	.	.	ENSG00000164061	ENST00000296452	T	0.19250	2.16	5.1	3.17	0.36434	.	0.114280	0.64402	D	0.000017	T	0.14743	0.0356	L	0.36672	1.1	0.49483	D	0.999791	P	0.50617	0.937	B	0.40565	0.333	T	0.02603	-1.1135	10	0.48119	T	0.1	-7.8515	7.5596	0.27843	0.2536:0.4855:0.2609:0.0	.	2031	Q9UPA5	BSN_HUMAN	C	2031	ENSP00000296452:R2031C	ENSP00000296452:R2031C	R	+	1	0	BSN	49668084	1.000000	0.71417	0.981000	0.43875	0.884000	0.51177	3.922000	0.56462	1.131000	0.42111	0.561000	0.74099	CGC		0.602	BSN-001	KNOWN	NMD_exception|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000258164.1	NM_003458		30	93	0	0	0	1	0	30	93					T	49693080	C	T	49693080	3	4	385	1	0	0	0	0	1	0	0	0	1530	536	19	1	6109	1	BSN	3	49693080	Missense_Mutation	SNP	C	TCGA-V1-A9OF-01A-11D-A41K-08	981090	49693080	148329350	8	18898											
KIAA0922	23240	broad.mit.edu	37	chr4	154544236	154544236	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ccagcacttcctgccggccgGtgagtcctgagcagagcccc	6	6	12	17	2	0	3	0	2	0	1	2	3	2	3	7	2	4	2	7	2	0	1			TCGA-V1-A9OF-01A-11D-A41K-08	TCGA-V1-A9OF-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfdee3c3-dfff-4ca8-9750-946c41e688ee	37744749-dd3a-43dc-b690-4270748f7885	g.chr4:154544236G>A	ENST00000409663.3	+	29	4094		c.e29+1		KIAA0922_ENST00000409959.3_Splice_Site|KIAA0922_ENST00000440693.1_Splice_Site	NM_015196.3	NP_056011.3	A2VDJ0	T131L_HUMAN	KIAA0922							integral component of membrane (GO:0016021)				breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(16)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	63	all_hematologic(180;0.093)	Renal(120;0.118)				CTGCCGGCCGGTGAGTCCTGA	0.672																																						ENST00000409959.3																			0				breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(16)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						c.e29+1		KIAA0922							23	24	24					4																	154544236		2203	4298	6501	SO:0001630	splice_region_variant	23240					integral to membrane		g.chr4:154544236G>A	AK096538	CCDS3783.2, CCDS47148.1	4q31.3	2008-02-05			ENSG00000121210	ENSG00000121210			29146	protein-coding gene	gene with protein product						10231032, 11230166	Standard	NM_015196		Approved	DKFZp586H1322, TMEM131L	uc010ipp.3	A2VDJ0	OTTHUMG00000153244	ENST00000409663.3:c.4042+1G>A	4.37:g.154544236G>A						KIAA0922_ENST00000440693.1_Splice_Site|KIAA0922_ENST00000409663.3_Splice_Site		NM_001131007.1	NP_001124479.1	A2VDJ0	T131L_HUMAN			29	4094	+	all_hematologic(180;0.093)	Renal(120;0.118)						B3KRV3|Q7LGA7|Q86Y92|Q8WU56|Q9H065|Q9Y2D7	Splice_Site	SNP	ENST00000409663.3	37		CCDS3783.2	.	.	.	.	.	.	.	.	.	.	G	12.78	2.039697	0.35989	.	.	ENSG00000121210	ENST00000409663;ENST00000440693;ENST00000409959;ENST00000240487	.	.	.	5.73	5.73	0.89815	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.0789	0.89436	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	KIAA0922	154763686	1.000000	0.71417	0.988000	0.46212	0.048000	0.14542	6.000000	0.70678	2.713000	0.92767	0.655000	0.94253	.		0.672	KIAA0922-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000330370.1	NM_015196	Intron	5	14	0	0	0	1	0	5	14					A	154544236	G	A	154544236	5	1	385	1	0	0	0	0	0	0	1	0	8201	1275	44	3	4160	3	KIAA0922	4	154544236	Splice_Site	SNP	G	TCGA-V1-A9OF-01A-11D-A41K-08		154544236	36610040	9	18899											
DDX41	51428	broad.mit.edu	37	chr5	176943192	176943192	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccttggcagactctttgcGcgctgagaaaagaagtggaa	11	9	12	9	2	1	3	0	1	1	3	2	5	2	4	1	2	1	2	1	2	4	2			TCGA-V1-A9OF-01A-11D-A41K-08	TCGA-V1-A9OF-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfdee3c3-dfff-4ca8-9750-946c41e688ee	37744749-dd3a-43dc-b690-4270748f7885	g.chr5:176943192G>A	ENST00000507955.1	-	4	824	c.301C>T	c.(301-303)Cgc>Tgc	p.R101C	DDX41_ENST00000506965.1_5'UTR	NM_016222.2	NP_057306.2	Q9UJV9	DDX41_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 41	101					apoptotic process (GO:0006915)|cellular response to interferon-beta (GO:0035458)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|mRNA splicing, via spliceosome (GO:0000398)|multicellular organismal development (GO:0007275)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of type I interferon production (GO:0032479)|RNA processing (GO:0006396)	catalytic step 2 spliceosome (GO:0071013)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)					all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.191)			GACTCTTTGCGCGCTGAGAAA	0.537																																						ENST00000507955.1																			0											c.(301-303)Cgc>Tgc		DEAD (Asp-Glu-Ala-Asp) box polypeptide 41							175	178	177					5																	176943192		2203	4300	6503	SO:0001583	missense	51428				apoptosis|multicellular organismal development	catalytic step 2 spliceosome	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding|zinc ion binding	g.chr5:176943192G>A	AF195417	CCDS4427.1	5q35.3	2008-02-05			ENSG00000183258	ENSG00000183258		"DEAD-boxes"	18674	protein-coding gene	gene with protein product		608170				10607561	Standard	NM_016222		Approved	ABS, MGC8828	uc003mho.3	Q9UJV9	OTTHUMG00000130858	ENST00000507955.1:c.301C>T	5.37:g.176943192G>A	ENSP00000422753:p.Arg101Cys					DDX41_ENST00000506965.1_5'UTR	p.R101C	NM_016222.2	NP_057306.2	Q9UJV9	DDX41_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.191)		4	824	-	all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	101					B2RDC8|Q96BK6|Q96K05|Q9NT96|Q9NW04	Missense_Mutation	SNP	ENST00000507955.1	37	c.301C>T	CCDS4427.1	.	.	.	.	.	.	.	.	.	.	G	28.1	4.891001	0.91889	.	.	ENSG00000183258	ENST00000330503;ENST00000507955	T;T	0.28454	1.61;1.62	5.47	5.47	0.80525	.	0.193558	0.45867	D	0.000337	T	0.37293	0.0998	L	0.60455	1.87	0.80722	D	1	D	0.60160	0.987	P	0.46825	0.528	T	0.19877	-1.0292	10	0.56958	D	0.05	-24.415	14.1951	0.65664	0.0:0.0:0.8505:0.1495	.	101	Q9UJV9	DDX41_HUMAN	C	119;101	ENSP00000330349:R119C;ENSP00000422753:R101C	ENSP00000330349:R119C	R	-	1	0	DDX41	176875798	1.000000	0.71417	0.999000	0.59377	0.936000	0.57629	7.288000	0.78691	2.560000	0.86352	0.561000	0.74099	CGC		0.537	DDX41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253432.2	NM_016222		22	161	0	0	0	1	0	22	161					A	176943192	G	A	176943192	3	1	385	1	0	0	0	0	1	0	0	0	4361	1087	38	1	1623	1	DDX41	5	176943192	Missense_Mutation	SNP	G	TCGA-V1-A9OF-01A-11D-A41K-08		176943192	3972068	10	18900											
HNRNPH3	3189	broad.mit.edu	37	chr10	70101423	70101423	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ttctggaatgggaggctacgGaagagatggaatgggtatgt	11	10	17	3	1	1	1	0	0	1	1	1	6	1	5	0	6	1	2	0	6	5	3			TCGA-V1-A9OF-01A-11D-A41K-08	TCGA-V1-A9OF-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfdee3c3-dfff-4ca8-9750-946c41e688ee	37744749-dd3a-43dc-b690-4270748f7885	g.chr10:70101423G>A	ENST00000265866.7	+	8	1022	c.857G>A	c.(856-858)gGa>gAa	p.G286E	HNRNPH3_ENST00000354695.5_Missense_Mutation_p.G271E|HNRNPH3_ENST00000469172.1_3'UTR|HNRNPH3_ENST00000441000.2_Missense_Mutation_p.G178E	NM_012207.2|NM_021644.3	NP_036339.1|NP_067676.2	P31942	HNRH3_HUMAN	heterogeneous nuclear ribonucleoprotein H3 (2H9)	286	Gly-rich.				epithelial cell differentiation (GO:0030855)|mRNA splicing, via spliceosome (GO:0000398)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)	nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(5)|ovary(2)|prostate(2)	11						GGAGGCTACGGAAGAGATGGA	0.368																																						ENST00000265866.7																			0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(5)|ovary(2)|prostate(2)	11						c.(856-858)gGa>gAa		heterogeneous nuclear ribonucleoprotein H3 (2H9)							97	103	101					10																	70101423		2203	4300	6503	SO:0001583	missense	3189				nuclear mRNA splicing, via spliceosome	heterogeneous nuclear ribonucleoprotein complex	nucleotide binding|protein binding|RNA binding	g.chr10:70101423G>A		CCDS7278.1, CCDS7279.1	10q22	2013-02-12		2008-04-18	ENSG00000096746	ENSG00000096746		"RNA binding motif (RRM) containing"	5043	protein-coding gene	gene with protein product		602324		HNRPH3		8999868	Standard	NM_021644		Approved	2H9	uc001jnw.4	P31942	OTTHUMG00000018349	ENST00000265866.7:c.857G>A	10.37:g.70101423G>A	ENSP00000265866:p.Gly286Glu					HNRNPH3_ENST00000469172.1_3'UTR|HNRNPH3_ENST00000441000.2_Missense_Mutation_p.G178E|HNRNPH3_ENST00000354695.5_Missense_Mutation_p.G271E	p.G286E	NM_012207.2|NM_021644.3	NP_036339.1|NP_067676.2	P31942	HNRH3_HUMAN			8	1022	+			286			Gly-rich.		A8K682|B3KRE1|Q9BSX1|Q9NP53|Q9NP96|Q9NPA7|Q9NPI4|Q9UFU4|Q9Y4J5	Missense_Mutation	SNP	ENST00000265866.7	37	c.857G>A	CCDS7278.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.052967	0.75960	.	.	ENSG00000096746	ENST00000265866;ENST00000441000;ENST00000354695	T;T;T	0.14893	2.77;2.47;2.59	5.68	5.68	0.88126	.	0.000000	0.85682	D	0.000000	T	0.20981	0.0505	L	0.58810	1.83	0.80722	D	1	P;P;P	0.48016	0.845;0.904;0.845	B;B;B	0.38683	0.166;0.279;0.166	T	0.01863	-1.1258	10	0.33940	T	0.23	.	19.7939	0.96471	0.0:0.0:1.0:0.0	.	178;271;286	B4DHY1;P31942-2;P31942	.;.;HNRH3_HUMAN	E	286;178;271	ENSP00000265866:G286E;ENSP00000409869:G178E;ENSP00000346726:G271E	ENSP00000265866:G286E	G	+	2	0	HNRNPH3	69771429	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	7.846000	0.86887	2.668000	0.90789	0.563000	0.77884	GGA		0.368	HNRNPH3-012	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090165.1			22	62	0	0	0	1	0	22	62					A	70101423	G	A	70101423	3	1	385	1	0	0	0	0	1	0	0	0	7268	1174	41	3	883	3	HNRNPH3	10	70101423	Missense_Mutation	SNP	G	TCGA-V1-A9OF-01A-11D-A41K-08		70101423	65433324	11	18901											
PTPRJ	5795	broad.mit.edu	37	chr11	48145257	48145257	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaatggcactgcctcctgcCgggttcttcttgaaagcatt	7	12	10	12	1	2	1	0	1	2	0	3	1	3	1	3	2	3	4	3	2	2	4	rs374139660		TCGA-V1-A9OF-01A-11D-A41K-08	TCGA-V1-A9OF-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfdee3c3-dfff-4ca8-9750-946c41e688ee	37744749-dd3a-43dc-b690-4270748f7885	g.chr11:48145257C>A	ENST00000418331.2	+	5	1061	c.709C>A	c.(709-711)Cgg>Agg	p.R237R	PTPRJ_ENST00000440289.2_Silent_p.R237R	NM_002843.3	NP_002834.3	Q12913	PTPRJ_HUMAN	protein tyrosine phosphatase, receptor type, J	237	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				contact inhibition (GO:0060242)|heart development (GO:0007507)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of platelet-derived growth factor receptor signaling pathway (GO:0010642)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of T cell receptor signaling pathway (GO:0050860)|negative regulation of vascular permeability (GO:0043116)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine dephosphorylation (GO:0035335)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive chemotaxis (GO:0050918)|positive regulation of cell adhesion (GO:0045785)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of cell adhesion (GO:0030155)|vasculogenesis (GO:0001570)	cell projection (GO:0042995)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|delta-catenin binding (GO:0070097)|gamma-catenin binding (GO:0045295)|mitogen-activated protein kinase binding (GO:0051019)|phosphatase activity (GO:0016791)|platelet-derived growth factor receptor binding (GO:0005161)|protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)	p.R237W(2)		breast(3)|endometrium(7)|kidney(7)|large_intestine(5)|lung(15)|ovary(1)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						TGCCTCCTGCCGGGTTCTTCT	0.517																																						ENST00000418331.2																			2	Substitution - Missense(2)	p.R237W(2)	endometrium(2)	breast(3)|endometrium(7)|kidney(7)|large_intestine(5)|lung(15)|ovary(1)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						c.(709-711)Cgg>Agg		protein tyrosine phosphatase, receptor type, J							71	66	68					11																	48145257		2201	4298	6499	SO:0001819	synonymous_variant	5795				contact inhibition|negative regulation of cell growth|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of MAP kinase activity|negative regulation of platelet-derived growth factor receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of T cell receptor signaling pathway|negative regulation of vascular permeability|platelet-derived growth factor receptor signaling pathway|positive chemotaxis|positive regulation of focal adhesion assembly|positive regulation of protein kinase B signaling cascade|positive regulation of survival gene product expression	cell surface|cell-cell junction|immunological synapse|integral to plasma membrane|ruffle membrane	beta-catenin binding|delta-catenin binding|gamma-catenin binding|mitogen-activated protein kinase binding|platelet-derived growth factor receptor binding|protein tyrosine phosphatase activity	g.chr11:48145257C>A	U10886	CCDS7945.1, CCDS44596.1	11p11.2	2013-02-11			ENSG00000149177	ENSG00000149177		"CD molecules", "Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Fibronectin type III domain containing"	9673	protein-coding gene	gene with protein product		600925				7937872, 7994032	Standard	NM_001098503		Approved	DEP1, HPTPeta, CD148	uc001ngp.4	Q12913	OTTHUMG00000166573	ENST00000418331.2:c.709C>A	11.37:g.48145257C>A						PTPRJ_ENST00000440289.2_Silent_p.R237R	p.R237R	NM_002843.3	NP_002834.3	Q12913	PTPRJ_HUMAN			5	1061	+			237			Fibronectin type-III 2.		Q15255|Q6P4H4|Q8NHM2|Q9UDA9	Silent	SNP	ENST00000418331.2	37	c.709C>A	CCDS7945.1																																																																																				0.517	PTPRJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390525.1			3	72	1	0	0.150653	1	0.150653	3	72					A	48145257	C	A	48145257	2	1	385	1	0	0	0	0	0	0	0	1	12804	643	23	5		5	PTPRJ	11	48145257	Silent	SNP	C	TCGA-V1-A9OF-01A-11D-A41K-08		48145257	86861259	12	18902											
FOXM1	2305	broad.mit.edu	37	chr12	2983155	2983155	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccacataccacaggtctcccGtttctgctcgcaaagggctc	8	9	8	16	2	2	0	0	0	2	0	5	0	2	0	3	2	2	4	3	2	2	2	rs143720765		TCGA-V1-A9OF-01A-11D-A41K-08	TCGA-V1-A9OF-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfdee3c3-dfff-4ca8-9750-946c41e688ee	37744749-dd3a-43dc-b690-4270748f7885	g.chr12:2983155G>A	ENST00000359843.3	-	2	558	c.490C>T	c.(490-492)Cgg>Tgg	p.R164W	FOXM1_ENST00000537018.1_5'UTR|FOXM1_ENST00000361953.3_Missense_Mutation_p.R164W|FOXM1_ENST00000342628.2_Missense_Mutation_p.R164W	NM_021953.3	NP_068772.2	Q08050	FOXM1_HUMAN	forkhead box M1	164					cell cycle (GO:0007049)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA repair (GO:0006281)|G2/M transition of mitotic cell cycle (GO:0000086)|liver development (GO:0001889)|mitotic cell cycle (GO:0000278)|negative regulation of cell aging (GO:0090344)|negative regulation of stress-activated MAPK cascade (GO:0032873)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)|positive regulation of double-strand break repair (GO:2000781)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell cycle (GO:0051726)|regulation of cell cycle arrest (GO:0071156)|regulation of cell growth (GO:0001558)|regulation of cell proliferation (GO:0042127)|regulation of Ras protein signal transduction (GO:0046578)|regulation of reactive oxygen species metabolic process (GO:2000377)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)|vasculogenesis (GO:0001570)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|protein kinase binding (GO:0019901)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(3)	24			OV - Ovarian serous cystadenocarcinoma(31;0.000622)			CAGGTCTCCCGTTTCTGCTCG	0.537													G|||	1	0.000199681	0	0	5008	,	,		18708	0		0.001	False		,,,				2504	0					ENST00000342628.2																			0				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(3)	24						c.(490-492)Cgg>Tgg		forkhead box M1		G	TRP/ARG,TRP/ARG,TRP/ARG	2,4404	4.2+/-10.8	0,2,2201	113	110	111		490,490,490	-2.5	0	12	dbSNP_134	111	7,8593	5.7+/-21.5	0,7,4293	yes	missense,missense,missense	FOXM1	NM_021953.3,NM_202002.2,NM_202003.2	101,101,101	0,9,6494	AA,AG,GG		0.0814,0.0454,0.0692	benign,benign,benign	164/764,164/802,164/749	2983155	9,12997	2203	4300	6503	SO:0001583	missense	2305				cell cycle|embryo development|liver development|negative regulation of cell aging|negative regulation of stress-activated MAPK cascade|negative regulation of transcription from RNA polymerase II promoter|pattern specification process|positive regulation of cell proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of cell cycle arrest|regulation of cell growth|regulation of cell proliferation|regulation of oxygen and reactive oxygen species metabolic process|regulation of Ras protein signal transduction|regulation of reactive oxygen species metabolic process|regulation of sequence-specific DNA binding transcription factor activity|tissue development|transcription from RNA polymerase II promoter|vasculogenesis	cytoplasm|transcription factor complex	DNA bending activity|DNA binding|double-stranded DNA binding|promoter binding|protein binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|transcription factor binding	g.chr12:2983155G>A	Y12773	CCDS8515.1, CCDS8516.1, CCDS8517.1	12p13	2007-09-18			ENSG00000111206	ENSG00000111206		"Forkhead boxes"	3818	protein-coding gene	gene with protein product	"M-phase phosphoprotein 2"	602341		FKHL16		9032290, 9441747	Standard	NM_202002		Approved	HFH-11, trident, HNF-3, INS-1, MPP2, MPHOSPH2, TGT3	uc001qlf.3	Q08050	OTTHUMG00000168118	ENST00000359843.3:c.490C>T	12.37:g.2983155G>A	ENSP00000352901:p.Arg164Trp					FOXM1_ENST00000359843.3_Missense_Mutation_p.R164W|FOXM1_ENST00000361953.3_Missense_Mutation_p.R164W|FOXM1_ENST00000537018.1_5'UTR	p.R164W	NM_202002.2	NP_973731.1	Q08050	FOXM1_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.000622)		2	603	-			164					O43258|O43259|O43260|Q4ZGG7|Q9BRL2	Missense_Mutation	SNP	ENST00000359843.3	37	c.490C>T	CCDS8515.1	.	.	.	.	.	.	.	.	.	.	G	6.829	0.522032	0.13005	4.54E-4	8.14E-4	ENSG00000111206	ENST00000342628;ENST00000361953;ENST00000359843	D;D;D	0.93019	-3.08;-3.15;-3.07	4.76	-2.5	0.06384	.	1.201950	0.05602	N	0.576586	T	0.71863	0.3390	N	0.00237	-1.79	0.09310	N	1	B;B;B;B;B	0.15141	0.001;0.001;0.002;0.001;0.012	B;B;B;B;B	0.09377	0.001;0.001;0.001;0.001;0.004	T	0.66685	-0.5861	10	0.20046	T	0.44	.	4.1554	0.10258	0.5264:0.0:0.1954:0.2782	.	164;164;164;164;164	A8K591;Q53Y49;Q08050-2;Q08050;Q08050-3	.;.;.;FOXM1_HUMAN;.	W	164	ENSP00000342307:R164W;ENSP00000354492:R164W;ENSP00000352901:R164W	ENSP00000342307:R164W	R	-	1	2	FOXM1	2853416	0.590000	0.26815	0.001000	0.08648	0.011000	0.07611	0.603000	0.24149	-0.365000	0.08076	-0.253000	0.11424	CGG		0.537	FOXM1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000398272.1	NM_021953		24	42	0	0	0	1	0	24	42					A	2983155	G	A	2983155	3	1	385	1	0	0	0	0	1	0	0	0	6018	1144	40	1	1951	1	FOXM1	12	2983155	Missense_Mutation	SNP	G	TCGA-V1-A9OF-01A-11D-A41K-08		2983155	130868740	13	18903											
SNW1	22938	broad.mit.edu	37	chr14	78184773	78184773	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ccttgtccagatttttactgGgcctataaatactctgggcc	8	14	8	11	0	1	1	0	0	1	1	2	1	2	1	4	2	2	0	4	2	5	7			TCGA-V1-A9OF-01A-11D-A41K-08	TCGA-V1-A9OF-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfdee3c3-dfff-4ca8-9750-946c41e688ee	37744749-dd3a-43dc-b690-4270748f7885	g.chr14:78184773G>C	ENST00000261531.7	-	13	1411	c.1349C>G	c.(1348-1350)cCc>cGc	p.P450R	SNW1_ENST00000554775.1_Missense_Mutation_p.P288R|SLIRP_ENST00000557431.1_Intron|SNW1_ENST00000555761.1_Missense_Mutation_p.P450R|SLIRP_ENST00000557623.1_Intron	NM_012245.2	NP_036377.1	Q13573	SNW1_HUMAN	SNW domain containing 1	450					cellular response to retinoic acid (GO:0071300)|gene expression (GO:0010467)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of mRNA splicing, via spliceosome (GO:0048026)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|positive regulation of vitamin D receptor signaling pathway (GO:0070564)|regulation of retinoic acid receptor signaling pathway (GO:0048385)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of vitamin D receptor signaling pathway (GO:0070562)|retinoic acid receptor signaling pathway (GO:0048384)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	catalytic step 2 spliceosome (GO:0071013)|chromatin (GO:0000785)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	Notch binding (GO:0005112)|nuclear hormone receptor binding (GO:0035257)|poly(A) RNA binding (GO:0044822)|retinoic acid receptor binding (GO:0042974)|SMAD binding (GO:0046332)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|vitamin D receptor binding (GO:0042809)			NS(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0291)		ATTTTTACTGGGCCTATAAAT	0.413																																						ENST00000261531.7																			0				NS(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24						c.(1348-1350)cCc>cGc		SNW domain containing 1							117	111	113					14																	78184773		2203	4300	6503	SO:0001583	missense	22938				negative regulation of transcription, DNA-dependent|nuclear mRNA splicing, via spliceosome|regulation of transcription from RNA polymerase II promoter	catalytic step 2 spliceosome|nucleoplasm	Notch binding	g.chr14:78184773G>C	AF045184	CCDS9867.1	14q22.1-q22.3	2005-09-13	2005-09-13	2005-09-13		ENSG00000100603			16696	protein-coding gene	gene with protein product		603055	"SKI interacting protein"	SKIIP		8973337, 9632709	Standard	NM_012245		Approved	NCoA-62, SKIP, Prp45, PRPF45, Bx42	uc001xuf.3	Q13573		ENST00000261531.7:c.1349C>G	14.37:g.78184773G>C	ENSP00000261531:p.Pro450Arg					SNW1_ENST00000555761.1_Missense_Mutation_p.P450R|SLIRP_ENST00000557623.1_Intron|SNW1_ENST00000554775.1_Missense_Mutation_p.P288R|SLIRP_ENST00000557431.1_Intron	p.P450R	NM_012245.2	NP_036377.1	Q13573	SNW1_HUMAN	Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0291)	13	1411	-			450					A8K8A9|Q13483|Q32N03|Q5D0D6	Missense_Mutation	SNP	ENST00000261531.7	37	c.1349C>G	CCDS9867.1	.	.	.	.	.	.	.	.	.	.	G	23.6	4.436936	0.83885	.	.	ENSG00000100603	ENST00000261531;ENST00000554775;ENST00000555761	.	.	.	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	D	0.83732	0.5318	M	0.80847	2.515	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.994	D	0.85008	0.0904	9	0.72032	D	0.01	.	19.7701	0.96359	0.0:0.0:1.0:0.0	.	450;450	G3V3A4;Q13573	.;SNW1_HUMAN	R	450;288;450	.	ENSP00000261531:P450R	P	-	2	0	SNW1	77254526	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.537000	0.98070	2.690000	0.91761	0.460000	0.39030	CCC		0.413	SNW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413912.1	NM_012245		27	48	0	0	0	1	0	27	48					C	78184773	G	C	78184773	3	2	385	1	0	0	0	0	1	0	0	0	14879	1232	43	5	269	5	SNW1	14	78184773	Missense_Mutation	SNP	G	TCGA-V1-A9OF-01A-11D-A41K-08		78184773	29164767	14	18904											
MGA	23269	broad.mit.edu	37	chr15	42035324	42035325	+	Frame_Shift_Del	DEL	TA	TA	-																															tctctgggctctgttcctatTatactctcaggaattaatgg																										TCGA-V1-A9OF-01A-11D-A41K-08	TCGA-V1-A9OF-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfdee3c3-dfff-4ca8-9750-946c41e688ee	37744749-dd3a-43dc-b690-4270748f7885	g.chr15:42035324_42035325delTA	ENST00000570161.1	+	14	5166_5167	c.5166_5167delTA	c.(5164-5169)attatafs	p.II1722fs	MGA_ENST00000219905.7_Frame_Shift_Del_p.II1722fs|MGA_ENST00000566586.1_Intron|MGA_ENST00000389936.4_Frame_Shift_Del_p.II1722fs|MGA_ENST00000545763.1_Intron			O43451	MGA_HUMAN	MGA, MAX dimerization protein	0	Glucoamylase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)			NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)	Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	CTGTTCCTATTATACTCTCAGG	0.465																																						ENST00000219905.7																			0				NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95						c.(5164-5169)attafs		MGA, MAX dimerization protein																																				SO:0001589	frameshift_variant	23269					MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr15:42035324_42035325delTA	AB011090	CCDS55959.1, CCDS55960.1	15q15	2012-11-15	2012-11-15		ENSG00000174197	ENSG00000174197		"MAX dimerization proteins", "T-boxes"	14010	protein-coding gene	gene with protein product			"MAX gene associated"				Standard	NM_001080541		Approved	KIAA0518, MAD5, MXD5, FLJ12634	uc010ucy.2	Q8IWI9		ENST00000570161.1:c.5166_5167delTA	15.37:g.42035326_42035327delTA	ENSP00000457035:p.Ile1722fs					MGA_ENST00000570161.1_Frame_Shift_Del_p.II1722fs|MGA_ENST00000389936.4_Frame_Shift_Del_p.II1722fs|MGA_ENST00000566586.1_Intron|MGA_ENST00000545763.1_Intron	p.II1722fs	NM_001164273.1	NP_001157745.1	Q8IWI9	MGAP_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)	15	5347_5348	+		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)	1722					Q0VAX6|Q75ME7|Q86UM5	Frame_Shift_Del	DEL	ENST00000570161.1	37	c.5166_5167delTA	CCDS55959.1																																																																																				0.465	MGA-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000420229.1	NM_001164273.1		8	15						8	15	---	---	---	---	-	42035325	TA	-	42035324	7	5	385	1	0	1	0	1	0	0	0	0	9540	1742	61	0	5220	0	MGA	15	42035324	Frame_Shift_Del	DEL	TA	TCGA-V1-A9OF-01A-11D-A41K-08		42035324	60496068	15	18905											
ITFG1	81533	broad.mit.edu	37	chr16	47196504	47196504	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gagatggtcaagaaaatttgCgctccgacctaaaccaagca	15	7	9	10	2	1	2	1	0	0	2	2	4	2	2	3	1	3	2	3	1	6	2			TCGA-V1-A9OF-01A-11D-A41K-08	TCGA-V1-A9OF-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfdee3c3-dfff-4ca8-9750-946c41e688ee	37744749-dd3a-43dc-b690-4270748f7885	g.chr16:47196504C>T	ENST00000320640.6	-	15	1753	c.1525G>A	c.(1525-1527)Gca>Aca	p.A509T	ITFG1_ENST00000568047.1_5'UTR|ITFG1_ENST00000544001.2_Missense_Mutation_p.A396T|RP11-329J18.2_ENST00000565694.1_RNA|RP11-329J18.2_ENST00000564705.1_RNA	NM_030790.3	NP_110417.2	Q8TB96	TIP_HUMAN	integrin alpha FG-GAP repeat containing 1	509						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	19		all_cancers(37;0.0613)|all_lung(18;0.0543)|Lung NSC(13;0.227)				AGAAAATTTGCGCTCCGACCT	0.358																																						ENST00000320640.6																			0				breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	19						c.(1525-1527)Gca>Aca		integrin alpha FG-GAP repeat containing 1							101	103	102					16																	47196504		2202	4300	6502	SO:0001583	missense	81533					extracellular region|integral to membrane		g.chr16:47196504C>T	AF503339	CCDS10728.1	16q12.1	2008-02-05			ENSG00000129636	ENSG00000129636			30697	protein-coding gene	gene with protein product	"T cell immunomodulatory protein"	611803				12598909	Standard	NM_030790		Approved	CDA08, TIP	uc002eet.3	Q8TB96	OTTHUMG00000133103	ENST00000320640.6:c.1525G>A	16.37:g.47196504C>T	ENSP00000319918:p.Ala509Thr					RP11-329J18.2_ENST00000564705.1_RNA|ITFG1_ENST00000544001.2_Missense_Mutation_p.A396T|RP11-329J18.2_ENST00000565694.1_RNA|ITFG1_ENST00000568047.1_5'UTR	p.A509T	NM_030790.3	NP_110417.2	Q8TB96	TIP_HUMAN			15	1753	-		all_cancers(37;0.0613)|all_lung(18;0.0543)|Lung NSC(13;0.227)	509					Q96SR4|Q9BRE2|Q9H2V9	Missense_Mutation	SNP	ENST00000320640.6	37	c.1525G>A	CCDS10728.1	.	.	.	.	.	.	.	.	.	.	C	35	5.478197	0.96291	.	.	ENSG00000129636	ENST00000320640;ENST00000537184;ENST00000542691;ENST00000544001	T;T	0.62498	0.02;0.02	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	T	0.69762	0.3147	L	0.45581	1.43	0.80722	D	1	P;D	0.89917	0.953;1.0	B;D	0.66084	0.292;0.941	T	0.62469	-0.6848	10	0.02654	T	1	-17.4271	19.4863	0.95030	0.0:1.0:0.0:0.0	.	396;509	F5GXC5;Q8TB96	.;TIP_HUMAN	T	509;169;254;396	ENSP00000319918:A509T;ENSP00000441062:A396T	ENSP00000319918:A509T	A	-	1	0	ITFG1	45754005	1.000000	0.71417	1.000000	0.80357	0.850000	0.48378	5.177000	0.65032	2.618000	0.88619	0.591000	0.81541	GCA		0.358	ITFG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256768.3	NM_030790		4	110	0	0	0	1	0	4	110					T	47196504	C	T	47196504	3	4	385	1	0	0	0	0	1	0	0	0	7869	768	27	1	329	1	ITFG1	16	47196504	Missense_Mutation	SNP	C	TCGA-V1-A9OF-01A-11D-A41K-08		47196504	43158249	16	18906											
KRT26	353288	broad.mit.edu	37	chr17	38925341	38925341	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	cagccaaggagcattcatagGaatgtttctgaaagaaaagc	16	8	10	7	0	2	2	1	1	1	1	2	4	2	4	1	2	3	2	1	2	6	3			TCGA-V1-A9OF-01A-11D-A41K-08	TCGA-V1-A9OF-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfdee3c3-dfff-4ca8-9750-946c41e688ee	37744749-dd3a-43dc-b690-4270748f7885	g.chr17:38925341G>C	ENST00000335552.4	-	6	1025	c.977C>G	c.(976-978)tCc>tGc	p.S326C		NM_181539.4	NP_853517.2			keratin 26											central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(5)	16		Breast(137;0.00526)				GCATTCATAGGAATGTTTCTG	0.363																																						ENST00000335552.4																			0				central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(5)	16						c.(976-978)tCc>tGc		keratin 26							59	52	54					17																	38925341		2203	4300	6503	SO:0001583	missense	353288					intermediate filament	structural molecule activity	g.chr17:38925341G>C	AJ564205	CCDS11374.1	17q21.2	2013-01-16	2006-07-17	2006-07-17	ENSG00000186393	ENSG00000186393		"-", "Intermediate filaments type I, keratins (acidic)"	30840	protein-coding gene	gene with protein product			"keratin 25B"	KRT25B		16831889	Standard	NM_181539		Approved		uc002hvf.3	Q7Z3Y9	OTTHUMG00000133370	ENST00000335552.4:c.977C>G	17.37:g.38925341G>C	ENSP00000334798:p.Ser326Cys						p.S326C	NM_181539.4	NP_853517.2	Q7Z3Y9	K1C26_HUMAN			6	1025	-		Breast(137;0.00526)	326			Coil 2.|Rod.			Missense_Mutation	SNP	ENST00000335552.4	37	c.977C>G	CCDS11374.1	.	.	.	.	.	.	.	.	.	.	G	16.44	3.124963	0.56613	.	.	ENSG00000186393	ENST00000335552	D	0.91068	-2.78	4.68	4.68	0.58851	Filament (1);	0.000000	0.52532	D	0.000070	D	0.96128	0.8738	M	0.90198	3.095	0.30012	N	0.815059	D	0.89917	1.0	D	0.91635	0.999	D	0.93509	0.6851	10	0.56958	D	0.05	.	17.5233	0.87792	0.0:0.0:1.0:0.0	.	326	Q7Z3Y9	K1C26_HUMAN	C	326	ENSP00000334798:S326C	ENSP00000334798:S326C	S	-	2	0	KRT26	36178867	0.500000	0.26091	0.587000	0.28692	0.900000	0.52787	3.624000	0.54231	2.264000	0.75181	0.591000	0.81541	TCC		0.363	KRT26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257215.1	NM_181539		4	45	0	0	0	1	0	4	45					C	38925341	G	C	38925341	3	2	385	1	0	0	0	0	1	0	0	0	8463	1174	41	5	441	5	KRT26	17	38925341	Missense_Mutation	SNP	G	TCGA-V1-A9OF-01A-11D-A41K-08		38925341	42269869	17	18907											
SPOP	8405	broad.mit.edu	37	chr17	47696432	47696432	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgaatttcttgaatccccAgtctttgccttgcacaaacc	10	13	6	12	0	2	2	0	2	2	0	3	3	3	2	4	0	3	1	4	0	3	4			TCGA-V1-A9OF-01A-11D-A41K-08	TCGA-V1-A9OF-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfdee3c3-dfff-4ca8-9750-946c41e688ee	37744749-dd3a-43dc-b690-4270748f7885	g.chr17:47696432A>C	ENST00000393328.2	-	6	756	c.391T>G	c.(391-393)Tgg>Ggg	p.W131G	SPOP_ENST00000503676.1_Missense_Mutation_p.W131G|SPOP_ENST00000393331.3_Missense_Mutation_p.W131G|SPOP_ENST00000504102.1_Missense_Mutation_p.W131G|SPOP_ENST00000347630.2_Missense_Mutation_p.W131G|SPOP_ENST00000513080.1_5'Flank	NM_003563.3	NP_003554.1	O43791	SPOP_HUMAN	speckle-type POZ protein	131	Important for binding substrate proteins.|MATH. {ECO:0000255|PROSITE- ProRule:PRU00129}.|Required for nuclear localization.				glucose homeostasis (GO:0042593)|positive regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902237)|positive regulation of type B pancreatic cell apoptotic process (GO:2000676)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	Cul3-RING ubiquitin ligase complex (GO:0031463)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	ubiquitin protein ligase binding (GO:0031625)	p.W131G(2)|p.W131R(1)		endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						TTGAATCCCCAGTCTTTGCCT	0.458										Prostate(2;0.17)																												ENST00000393331.3																			3	Substitution - Missense(3)	p.W131G(2)|p.W131R(1)	prostate(3)	endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						c.(391-393)Tgg>Ggg		speckle-type POZ protein							121	124	123					17																	47696432		2203	4300	6503	SO:0001583	missense	8405				mRNA processing	nucleus	protein binding	g.chr17:47696432A>C	AJ000644	CCDS11551.1	17q21.33	2013-01-09			ENSG00000121067	ENSG00000121067		"BTB/POZ domain containing"	11254	protein-coding gene	gene with protein product		602650				9414087	Standard	NM_001007227		Approved	TEF2, BTBD32	uc002ipg.3	O43791	OTTHUMG00000161496	ENST00000393328.2:c.391T>G	17.37:g.47696432A>C	ENSP00000377001:p.Trp131Gly	Prostate(2;0.17)				SPOP_ENST00000503676.1_Missense_Mutation_p.W131G|SPOP_ENST00000347630.2_Missense_Mutation_p.W131G|SPOP_ENST00000393328.2_Missense_Mutation_p.W131G|SPOP_ENST00000504102.1_Missense_Mutation_p.W131G	p.W131G	NM_001007226.1|NM_001007227.1	NP_001007227.1|NP_001007228.1	O43791	SPOP_HUMAN			7	861	-			131			MATH.|Required for nuclear localization.		B2R6S3|D3DTW7|Q53HJ1	Missense_Mutation	SNP	ENST00000393328.2	37	c.391T>G	CCDS11551.1	.	.	.	.	.	.	.	.	.	.	A	20.8	4.058244	0.76074	.	.	ENSG00000121067	ENST00000393328;ENST00000393331;ENST00000347630;ENST00000504102;ENST00000503536;ENST00000503676;ENST00000513872;ENST00000509079;ENST00000505581;ENST00000507970;ENST00000514121	T;T;T;T;T;T;T;T;T	0.70045	-0.45;-0.45;-0.45;-0.45;-0.45;-0.45;-0.45;-0.45;-0.45	5.41	5.41	0.78517	TRAF-type (1);TRAF-like (1);MATH (3);	0.000000	0.85682	D	0.000000	T	0.81851	0.4910	H	0.95402	3.665	0.80722	D	1	P	0.43024	0.798	P	0.47786	0.557	D	0.87031	0.2135	10	0.72032	D	0.01	0.1404	15.258	0.73599	1.0:0.0:0.0:0.0	.	131	O43791	SPOP_HUMAN	G	131;131;131;131;15;131;84;131;131;131;131	ENSP00000377001:W131G;ENSP00000377004:W131G;ENSP00000240327:W131G;ENSP00000425905:W131G;ENSP00000420908:W131G;ENSP00000426986:W131G;ENSP00000420960:W131G;ENSP00000426262:W131G;ENSP00000424119:W131G	ENSP00000240327:W131G	W	-	1	0	SPOP	45051431	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.056000	0.93881	2.261000	0.74972	0.460000	0.39030	TGG		0.458	SPOP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365154.2	NM_003563		55	99	0	0	0	1	0	55	99					C	47696432	A	C	47696432	3	2	385	1	0	0	0	0	1	0	0	0	15083	188	7	5	757	5	SPOP	17	47696432	Missense_Mutation	SNP	A	TCGA-V1-A9OF-01A-11D-A41K-08	8771091	47696432	33498778	18	18908											
MED13	9969	broad.mit.edu	37	chr17	60112846	60112846	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgaaatgggctattagactgTtgagcaagggtgatatgctc	11	12	13	5	0	0	4	0	3	0	1	1	4	0	4	0	2	2	4	0	2	5	4			TCGA-V1-A9OF-01A-11D-A41K-08	TCGA-V1-A9OF-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfdee3c3-dfff-4ca8-9750-946c41e688ee	37744749-dd3a-43dc-b690-4270748f7885	g.chr17:60112846T>C	ENST00000397786.2	-	4	670	c.594A>G	c.(592-594)caA>caG	p.Q198Q	Y_RNA_ENST00000363972.1_RNA	NM_005121.2	NP_005112.2	Q9UHV7	MED13_HUMAN	mediator complex subunit 13	198					androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|receptor activity (GO:0004872)|RNA polymerase II transcription cofactor activity (GO:0001104)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			breast(4)|central_nervous_system(1)|endometrium(10)|kidney(24)|large_intestine(15)|liver(1)|lung(20)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						TATTAGACTGTTGAGCAAGGG	0.343																																						ENST00000397786.2																			0				breast(4)|central_nervous_system(1)|endometrium(10)|kidney(24)|large_intestine(15)|liver(1)|lung(20)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						c.(592-594)caA>caG		mediator complex subunit 13							127	116	119					17																	60112846		1852	4109	5961	SO:0001819	synonymous_variant	9969				androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	g.chr17:60112846T>C	AB011165	CCDS42366.1	17q22-q23	2007-07-30	2007-07-30	2007-07-30		ENSG00000108510			22474	protein-coding gene	gene with protein product		603808	"thyroid hormone receptor associated protein 1"	THRAP1		1019863	Standard	NM_005121		Approved	KIAA0593, TRAP240	uc002izo.3	Q9UHV7		ENST00000397786.2:c.594A>G	17.37:g.60112846T>C							p.Q198Q	NM_005121.2	NP_005112.2	Q9UHV7	MED13_HUMAN			4	670	-			198					B2RU05|O60334	Silent	SNP	ENST00000397786.2	37	c.594A>G	CCDS42366.1																																																																																				0.343	MED13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445461.1	NM_005121		10	71	0	0	0	1	0	10	71					C	60112846	T	C	60112846	2	2	385	1	0	0	0	0	0	0	0	1	9430	1722	60	4		4	MED13	17	60112846	Silent	SNP	T	TCGA-V1-A9OF-01A-11D-A41K-08	12416414	60112846	21082364	19	18909											
MUC16	94025	broad.mit.edu	37	chr19	9087137	9087137	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtgagtaggactcatcgttgCagaaagggtgtcctgtgctt	8	12	14	7	1	1	2	1	1	0	1	3	3	2	3	1	2	2	4	1	2	2	3			TCGA-V1-A9OF-01A-11D-A41K-08	TCGA-V1-A9OF-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfdee3c3-dfff-4ca8-9750-946c41e688ee	37744749-dd3a-43dc-b690-4270748f7885	g.chr19:9087137C>T	ENST00000397910.4	-	1	4881	c.4678G>A	c.(4678-4680)Gca>Aca	p.A1560T		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	1560	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CTCATCGTTGCAGAAAGGGTG	0.498																																						ENST00000397910.4																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(4678-4680)Gca>Aca		mucin 16, cell surface associated							413	390	398					19																	9087137		2087	4228	6315	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9087137C>T	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.4678G>A	19.37:g.9087137C>T	ENSP00000381008:p.Ala1560Thr						p.A1560T	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			1	4881	-			1560			Thr-rich.		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.4678G>A	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	c	4.332	0.060994	0.08339	.	.	ENSG00000181143	ENST00000397910	T	0.02709	4.19	0.235	0.235	0.15431	.	.	.	.	.	T	0.03959	0.0111	N	0.08118	0	.	.	.	D	0.60575	0.988	P	0.62885	0.908	T	0.46105	-0.9215	7	0.87932	D	0	.	.	.	.	.	1560	B5ME49	.	T	1560	ENSP00000381008:A1560T	ENSP00000381008:A1560T	A	-	1	0	MUC16	8948137	0.000000	0.05858	0.115000	0.21578	0.119000	0.20118	-0.918000	0.04021	0.308000	0.22923	0.313000	0.20887	GCA		0.498	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		4	168	0	0	0	1	0	4	168					T	9087137	C	T	9087137	3	4	385	1	0	0	0	0	1	0	0	0	9973	710	25	3	39181	3	MUC16	19	9087137	Missense_Mutation	SNP	C	TCGA-V1-A9OF-01A-11D-A41K-08		9087137	50041846	20	18910											
ZGPAT	84619	broad.mit.edu	37	chr20	62364966	62364966	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	caacggctactacacagtcaAgtttgactcgctgctgctga	10	10	9	12	2	1	2	1	2	0	0	2	2	1	2	0	1	5	5	0	1	4	3			TCGA-V1-A9OF-01A-11D-A41K-08	TCGA-V1-A9OF-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfdee3c3-dfff-4ca8-9750-946c41e688ee	37744749-dd3a-43dc-b690-4270748f7885	g.chr20:62364966A>G	ENST00000328969.5	+	4	873	c.746A>G	c.(745-747)aAg>aGg	p.K249R	RP4-583P15.15_ENST00000490623.2_Missense_Mutation_p.S155G|ZGPAT_ENST00000357119.4_Missense_Mutation_p.K249R|ZGPAT_ENST00000478385.1_3'UTR|ZGPAT_ENST00000369967.3_Missense_Mutation_p.K249R|ZGPAT_ENST00000448100.2_Missense_Mutation_p.K249R|ZGPAT_ENST00000355969.6_Missense_Mutation_p.K249R	NM_032527.4	NP_115916.3	Q8N5A5	ZGPAT_HUMAN	zinc finger, CCCH-type with G patch domain	249					negative regulation of epidermal growth factor-activated receptor activity (GO:0007175)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)	14	all_cancers(38;1.13e-12)|all_epithelial(29;2.64e-14)|Lung NSC(23;4.79e-10)|all_lung(23;1.7e-09)					TACACAGTCAAGTTTGACTCG	0.612																																						ENST00000328969.5																			0				endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)	14						c.(745-747)aAg>aGg		zinc finger, CCCH-type with G patch domain							181	176	178					20																	62364966		2203	4300	6503	SO:0001583	missense	84619				negative regulation of epidermal growth factor receptor activity|negative regulation of transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr20:62364966A>G	AK027878	CCDS13534.1, CCDS13535.1, CCDS56203.1	20q13.3	2013-01-28	2004-12-01	2004-12-01	ENSG00000197114	ENSG00000197114		"Zinc fingers, CCCH-type domain containing", "G patch domain containing"	15948	protein-coding gene	gene with protein product			"KIAA1847"	KIAA1847		16952911	Standard	NM_181485		Approved	dJ583P15.3, MGC44880, FLJ14972, ZC3HDC9, ZC3H9, GPATC6, GPATCH6, ZIP	uc002ygk.3	Q8N5A5	OTTHUMG00000032998	ENST00000328969.5:c.746A>G	20.37:g.62364966A>G	ENSP00000332013:p.Lys249Arg					ZGPAT_ENST00000490623.1_3'UTR|ZGPAT_ENST00000369967.3_Missense_Mutation_p.K249R|ZGPAT_ENST00000448100.1_Missense_Mutation_p.K249R|ZGPAT_ENST00000357119.4_Missense_Mutation_p.K249R|ZGPAT_ENST00000355969.6_Missense_Mutation_p.K249R	p.K249R	NM_032527.4	NP_115916.3	Q8N5A5	ZGPAT_HUMAN			4	873	+	all_cancers(38;1.13e-12)|all_epithelial(29;2.64e-14)|Lung NSC(23;4.79e-10)|all_lung(23;1.7e-09)		249					E1P5K1|Q4VXN9|Q5JWI9|Q5JWJ0|Q8NC55|Q8WUV4|Q96JI0|Q96JU4|Q9H401	Missense_Mutation	SNP	ENST00000328969.5	37	c.746A>G	CCDS13534.1	.	.	.	.	.	.	.	.	.	.	A	24.1	4.489788	0.84962	.	.	ENSG00000197114	ENST00000448100;ENST00000355969;ENST00000357119;ENST00000369967;ENST00000328969	D;D;D;D;D	0.93133	-3.17;-3.17;-3.17;-3.17;-3.17	5.5	3.24	0.37175	.	0.046988	0.85682	D	0.000000	D	0.95452	0.8523	M	0.74258	2.255	0.51012	D	0.999901	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.998;0.998;0.999	D	0.93452	0.6803	10	0.48119	T	0.1	-21.1042	8.4833	0.33057	0.8471:0.0:0.1529:0.0	.	249;249;249	Q8N5A5-3;Q8N5A5;Q8N5A5-2	.;ZGPAT_HUMAN;.	R	249	ENSP00000391176:K249R;ENSP00000348242:K249R;ENSP00000349634:K249R;ENSP00000358984:K249R;ENSP00000332013:K249R	ENSP00000332013:K249R	K	+	2	0	ZGPAT	61835410	1.000000	0.71417	0.996000	0.52242	0.990000	0.78478	4.371000	0.59523	0.394000	0.25230	0.482000	0.46254	AAG		0.612	ZGPAT-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000080214.1	NM_181484		132	195	0	0	0	1	0	132	195					G	62364966	A	G	62364966	3	3	385	1	0	0	0	0	1	0	0	0	17671	72	3	4	756	4	ZGPAT	20	62364966	Missense_Mutation	SNP	A	TCGA-V1-A9OF-01A-11D-A41K-08		62364966	660554	21	18911											
DGKK	139189	broad.mit.edu	37	chrX	50119074	50119074	+	RNA	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcattgccactgtcttggccGtaaaatatatcattcaggat	11	14	7	9	1	4	0	3	0	1	0	4	1	4	1	2	2	1	1	2	2	4	6	rs188642156		TCGA-V1-A9OF-01A-11D-A41K-08	TCGA-V1-A9OF-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfdee3c3-dfff-4ca8-9750-946c41e688ee	37744749-dd3a-43dc-b690-4270748f7885	g.chrX:50119074G>A	ENST00000376025.2	-	0	3421							Q5KSL6	DGKK_HUMAN	diacylglycerol kinase, kappa						blood coagulation (GO:0007596)|diacylglycerol metabolic process (GO:0046339)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|response to oxidative stress (GO:0006979)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)			central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Ovarian(276;0.236)					TGTCTTGGCCGTAAAATATAT	0.428													G|||	1	0.000264901	0	0	3775	,	,		15943	0.001		0	False		,,,				2504	0					ENST00000376025.2																			0				central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45								diacylglycerol kinase, kappa		G		2,3419		0,2,1423,571	64	58	60		3362	0.4	0	X		60	1,6510		0,1,2354,1801	yes	coding-synonymous	DGKK	NM_001013742.2		0,3,3777,2372	AA,AG,GG,G		0.0154,0.0585,0.0302		1121/1272	50119074	3,9929	1996	4156	6152			139189				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress	cytoplasm|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding	g.chrX:50119074G>A	AB183864	CCDS75980.1	Xp11.22	2006-02-08				ENSG00000274588			32395	protein-coding gene	gene with protein product		300837				16210324	Standard	NM_001013742		Approved		uc010njr.2	Q5KSL6			X.37:g.50119074G>A										Q5KSL6	DGKK_HUMAN			0	3421	-	Ovarian(276;0.236)							B2RP91	RNA	SNP	ENST00000376025.2	37																																																																																						0.428	DGKK-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000368187.1	NM_001013742		3	29	0	0	0	1	0	3	29					A	50119074	G	A	50119074	1	1	385	0	1	0	0	0	0	0	0	0	4472	1140	40	1		1	DGKK	23	50119074	RNA	SNP	G	TCGA-V1-A9OF-01A-11D-A41K-08		50119074	105151486	22	18912											
COL16A1	1307	broad.mit.edu	37	chr1	32138057	32138057	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gcaatcccggaggaccaggtAggcctgggctcccaacacag	10	4	13	14	1	0	0	0	0	0	0	2	2	2	2	4	5	1	3	4	5	3	1			TCGA-V1-A9OH-01A-11D-A41K-08	TCGA-V1-A9OH-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	447d759f-3770-49ac-8ff4-80ede8b435cd	ea11e1b5-ed5c-47f0-a320-9b8bffa66a4d	g.chr1:32138057A>T	ENST00000373672.3	-	47	3581	c.3065T>A	c.(3064-3066)cTa>cAa	p.L1022Q	COL16A1_ENST00000271069.6_Missense_Mutation_p.L1022Q	NM_001856.3	NP_001847.3	Q07092	COGA1_HUMAN	collagen, type XVI, alpha 1	1022	Collagen-like 6.|Triple-helical region 2 (COL2) with 2 imperfections.				cell adhesion (GO:0007155)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|female pregnancy (GO:0007565)|integrin-mediated signaling pathway (GO:0007229)	collagen type XVI trimer (GO:0005597)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	integrin binding (GO:0005178)			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(15)|ovary(8)|prostate(4)	48		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0423)|all_neural(195;0.0837)|Breast(348;0.116)		STAD - Stomach adenocarcinoma(196;0.059)		AGGACCAGGTAGGCCTGGGCT	0.607																																					Colon(143;498 1786 21362 25193 36625)	ENST00000373672.3																			0				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(15)|ovary(8)|prostate(4)	48						c.(3064-3066)cTa>cAa		collagen, type XVI, alpha 1							81	89	87					1																	32138057		2045	4179	6224	SO:0001583	missense	1307				cell adhesion|female pregnancy|integrin-mediated signaling pathway	collagen type XVI	integrin binding|structural molecule activity	g.chr1:32138057A>T	M92642	CCDS41297.1	1p35-p34	2013-01-16			ENSG00000084636	ENSG00000084636		"Collagens"	2193	protein-coding gene	gene with protein product		120326				1631157	Standard	NM_001856		Approved		uc001btk.1	Q07092	OTTHUMG00000003883	ENST00000373672.3:c.3065T>A	1.37:g.32138057A>T	ENSP00000362776:p.Leu1022Gln					COL16A1_ENST00000271069.6_Missense_Mutation_p.L1022Q	p.L1022Q	NM_001856.3	NP_001847.3	Q07092	COGA1_HUMAN		STAD - Stomach adenocarcinoma(196;0.059)	47	3581	-		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0423)|all_neural(195;0.0837)|Breast(348;0.116)	1022			Triple-helical region 2 (COL2) with 2 imperfections.		Q16593|Q59F89|Q71RG9	Missense_Mutation	SNP	ENST00000373672.3	37	c.3065T>A	CCDS41297.1	.	.	.	.	.	.	.	.	.	.	A	10.66	1.413592	0.25465	.	.	ENSG00000084636	ENST00000373672;ENST00000271069;ENST00000458715	D;D;D	0.93547	-3.24;-3.17;-2.85	4.45	1.91	0.25777	.	0.600804	0.15496	N	0.259320	D	0.86049	0.5840	L	0.41356	1.27	0.30701	N	0.750304	B;B	0.12630	0.006;0.005	B;B	0.08055	0.003;0.002	T	0.74134	-0.3763	10	0.13108	T	0.6	.	4.7279	0.12950	0.6076:0.2002:0.0:0.1922	.	1022;1022	Q07092;Q07092-2	COGA1_HUMAN;.	Q	1022;1022;227	ENSP00000362776:L1022Q;ENSP00000271069:L1022Q;ENSP00000411457:L227Q	ENSP00000271069:L1022Q	L	-	2	0	COL16A1	31910644	0.991000	0.36638	0.996000	0.52242	0.812000	0.45895	1.789000	0.38724	0.839000	0.34971	0.459000	0.35465	CTA		0.607	COL16A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011057.2	NM_001856		4	64	0	0	0	1	0	4	64					T	32138057	A	T	32138057	3	4	386	1	0	0	0	0	1	0	0	0	3673	420	15	5	1849	5	COL16A1	1	32138057	Missense_Mutation	SNP	A	TCGA-V1-A9OH-01A-11D-A41K-08		32138057	217112564	1	18913											
CTPS	1503	broad.mit.edu	37	chr1	41466743	41466743	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agcccatcacctcgcaagaaGagcccgtgcgctaccacgaa	12	4	9	16	4	1	2	1	0	0	2	2	3	1	2	4	0	4	2	4	0	4	1			TCGA-V1-A9OH-01A-11D-A41K-08	TCGA-V1-A9OH-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	447d759f-3770-49ac-8ff4-80ede8b435cd	ea11e1b5-ed5c-47f0-a320-9b8bffa66a4d	g.chr1:41466743G>C	ENST00000372621.4	+	10	1556	c.1048G>C	c.(1048-1050)Gag>Cag	p.E350Q	CTPS1_ENST00000372616.1_Missense_Mutation_p.E350Q|CTPS1_ENST00000541520.1_Missense_Mutation_p.E119Q	NM_001905.2	NP_001896.2			CTP synthase 1											endometrium(3)|lung(10)	13						CTCGCAAGAAGAGCCCGTGCG	0.517																																						ENST00000372621.4																			0				endometrium(3)|lung(10)	13						c.(1048-1050)Gag>Cag		CTP synthase 1	L-Glutamine(DB00130)						70	66	67					1																	41466743		2203	4300	6503	SO:0001583	missense	1503				CTP biosynthetic process|glutamine metabolic process|nucleobase, nucleoside and nucleotide interconversion|response to drug	cytosol	ATP binding|CTP synthase activity|protein binding	g.chr1:41466743G>C	BC009408	CCDS459.1	1p34.1	2012-05-02	2012-05-02	2012-05-02	ENSG00000171793	ENSG00000171793	6.3.4.2		2519	protein-coding gene	gene with protein product		123860	"CTP synthase"	CTPS		1783378	Standard	XM_005270536		Approved		uc001cgk.4	P17812	OTTHUMG00000005712	ENST00000372621.4:c.1048G>C	1.37:g.41466743G>C	ENSP00000361704:p.Glu350Gln					CTPS1_ENST00000541520.1_Missense_Mutation_p.E119Q|CTPS1_ENST00000372616.1_Missense_Mutation_p.E350Q	p.E350Q	NM_001905.2	NP_001896.2	P17812	PYRG1_HUMAN			10	1556	+			350			Glutamine amidotransferase type-1.			Missense_Mutation	SNP	ENST00000372621.4	37	c.1048G>C	CCDS459.1	.	.	.	.	.	.	.	.	.	.	G	14.36	2.513069	0.44660	.	.	ENSG00000171793	ENST00000372621;ENST00000541520;ENST00000372616	T;T;T	0.46063	0.9;0.88;0.9	5.86	5.86	0.93980	Glutamine amidotransferase type 1 (2);	0.180308	0.64402	D	0.000016	T	0.40839	0.1133	L	0.41906	1.305	0.80722	D	1	B;B	0.18166	0.008;0.026	B;B	0.26416	0.069;0.056	T	0.11446	-1.0587	10	0.39692	T	0.17	.	18.7657	0.91871	0.0:0.0:1.0:0.0	.	119;350	B4DR64;P17812	.;PYRG1_HUMAN	Q	350;119;350	ENSP00000361704:E350Q;ENSP00000442646:E119Q;ENSP00000361699:E350Q	ENSP00000361699:E350Q	E	+	1	0	CTPS	41239330	1.000000	0.71417	0.858000	0.33744	0.015000	0.08874	9.437000	0.97535	2.776000	0.95493	0.655000	0.94253	GAG		0.517	CTPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000015629.1	NM_001905		7	16	0	0	0	1	0	7	16					C	41466743	G	C	41466743	3	2	386	1	0	0	0	0	1	0	0	0	4022	943	33	5	1082	5	CTPS	1	41466743	Missense_Mutation	SNP	G	TCGA-V1-A9OH-01A-11D-A41K-08	9328686	41466743	207783878	2	18914											
C8B	732	broad.mit.edu	37	chr1	57406545	57406548	+	Frame_Shift_Del	DEL	TGTA	TGTA	-																															aactttgatgatggctgggtTgtactgcacagcgtctcccc																										TCGA-V1-A9OH-01A-11D-A41K-08	TCGA-V1-A9OH-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	447d759f-3770-49ac-8ff4-80ede8b435cd	ea11e1b5-ed5c-47f0-a320-9b8bffa66a4d	g.chr1:57406545_57406548delTGTA	ENST00000371237.4	-	9	1438_1441	c.1372_1375delTACA	c.(1372-1377)tacaacfs	p.YN458fs	C8B_ENST00000543257.1_Frame_Shift_Del_p.YN406fs|C8B_ENST00000535057.1_Frame_Shift_Del_p.YN396fs	NM_000066.2	NP_000057	P07358	CO8B_HUMAN	complement component 8, beta polypeptide	458	MACPF. {ECO:0000255|PROSITE- ProRule:PRU00745}.				complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|immune response (GO:0006955)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|membrane attack complex (GO:0005579)|vesicle (GO:0031982)				breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	52						ATGGCTGGGTTGTACTGCACAGCG	0.559																																						ENST00000543257.1																			0				breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	52						c.(1216-1221)acfs		complement component 8, beta polypeptide																																				SO:0001589	frameshift_variant	732				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	membrane attack complex		g.chr1:57406545_57406548delTGTA	M16973	CCDS30730.1, CCDS60151.1, CCDS60152.1	1p32.2	2014-09-17			ENSG00000021852	ENSG00000021852		"Complement system"	1353	protein-coding gene	gene with protein product		120960					Standard	NM_000066		Approved		uc001cyp.3	P07358	OTTHUMG00000008305	ENST00000371237.4:c.1372_1375delTACA	1.37:g.57406545_57406548delTGTA	ENSP00000360281:p.Tyr458fs					C8B_ENST00000535057.1_Frame_Shift_Del_p.YN396fs|C8B_ENST00000371237.4_Frame_Shift_Del_p.YN458fs	p.YN406fs	NM_001278543.1	NP_001265472.1	P07358	CO8B_HUMAN			10	1782_1785	-			458			MACPF.		A1L4K7	Frame_Shift_Del	DEL	ENST00000371237.4	37	c.1216_1219delTACA	CCDS30730.1																																																																																				0.559	C8B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022886.2			18	61						18	61	---	---	---	---	-	57406548	TGTA	-	57406545	7	5	386	1	0	1	0	1	0	0	0	0	2417	1812	63	0	416	0	C8B	1	57406545	Frame_Shift_Del	DEL	TGTA	TCGA-V1-A9OH-01A-11D-A41K-08	15939802	57406545	191844076	3	18915											
HRNR	388697	broad.mit.edu	37	chr1	152191168	152191168	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctgaccatagctggaagaCgaacctgagctagatccatg	12	8	11	10	1	0	4	0	2	0	2	1	6	1	5	3	1	4	3	3	1	4	2	rs146693658	byFrequency	TCGA-V1-A9OH-01A-11D-A41K-08	TCGA-V1-A9OH-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	447d759f-3770-49ac-8ff4-80ede8b435cd	ea11e1b5-ed5c-47f0-a320-9b8bffa66a4d	g.chr1:152191168C>T	ENST00000368801.2	-	3	3012	c.2937G>A	c.(2935-2937)tcG>tcA	p.S979S	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	979					establishment of skin barrier (GO:0061436)|hematopoietic progenitor cell differentiation (GO:0002244)|keratinization (GO:0031424)	cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			AGCTGGAAGACGAACCTGAGC	0.577																																						ENST00000368801.2																			0				autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192						c.(2935-2937)tcG>tcA		hornerin		T		0,4406		0,0,2203	274	260	265		2937	-0.5	0	1	dbSNP_134	265	3,8597	3.0+/-9.4	0,3,4297	no	coding-synonymous	HRNR	NM_001009931.1		0,3,6500	TT,TC,CC		0.0349,0.0,0.0231		979/2851	152191168	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	388697				keratinization		calcium ion binding|protein binding	g.chr1:152191168C>T	AB104446	CCDS30859.1	1q21.3	2013-01-10			ENSG00000197915	ENSG00000197915		"EF-hand domain containing"	20846	protein-coding gene	gene with protein product	"filaggrin family member 3"						Standard	NM_001009931		Approved	S100a18, S100A16, FLG3	uc001ezt.2	Q86YZ3	OTTHUMG00000012243	ENST00000368801.2:c.2937G>A	1.37:g.152191168C>T						FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	p.S979S	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	3012	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		979					Q5DT20|Q5U1F4	Silent	SNP	ENST00000368801.2	37	c.2937G>A	CCDS30859.1																																																																																				0.577	HRNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034016.1	XM_373868		6	243	0	0	0	1	0	6	243					T	152191168	C	T	152191168	2	4	386	1	0	0	0	0	0	0	0	1	7359	523	19	1		1	HRNR	1	152191168	Silent	SNP	C	TCGA-V1-A9OH-01A-11D-A41K-08	94784623	152191168	97059453	4	18916											
CD1D	912	broad.mit.edu	37	chr1	158152720	158152720	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agtcctggccctggccgtctGctgctggtgtgccatgtctc	2	12	13	14	1	2	0	0	0	2	0	4	0	3	0	4	3	3	2	4	3	0	0			TCGA-V1-A9OH-01A-11D-A41K-08	TCGA-V1-A9OH-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	447d759f-3770-49ac-8ff4-80ede8b435cd	ea11e1b5-ed5c-47f0-a320-9b8bffa66a4d	g.chr1:158152720G>A	ENST00000368171.3	+	5	1159	c.660G>A	c.(658-660)ctG>ctA	p.L220L		NM_001766.3	NP_001757.1	P15813	CD1D_HUMAN	CD1d molecule	220	Ig-like.				antigen processing and presentation, endogenous lipid antigen via MHC class Ib (GO:0048006)|detection of bacterium (GO:0016045)|heterotypic cell-cell adhesion (GO:0034113)|innate immune response (GO:0045087)|positive regulation of innate immune response (GO:0045089)|positive regulation of T cell proliferation (GO:0042102)|T cell selection (GO:0045058)|viral process (GO:0016032)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)	beta-2-microglobulin binding (GO:0030881)|cell adhesion molecule binding (GO:0050839)|exogenous lipid antigen binding (GO:0030884)|histone binding (GO:0042393)|lipid antigen binding (GO:0030882)|receptor activity (GO:0004872)			endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(1)|prostate(3)|urinary_tract(2)	30	all_hematologic(112;0.0378)					CTGGCCGTCTGCTGCTGGTGT	0.597																																						ENST00000368171.3																			0				endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(1)|prostate(3)|urinary_tract(2)	30						c.(658-660)ctG>ctA		CD1d molecule							87	86	87					1																	158152720		2203	4300	6503	SO:0001819	synonymous_variant	912				antigen processing and presentation, endogenous lipid antigen via MHC class Ib|detection of bacterium|innate immune response|interspecies interaction between organisms|positive regulation of innate immune response|T cell selection	endosome membrane|integral to plasma membrane|lysosomal membrane	beta-2-microglobulin binding|exogenous lipid antigen binding|histone binding	g.chr1:158152720G>A	BC027926	CCDS1173.1	1q23.1	2014-01-14	2006-03-28		ENSG00000158473	ENSG00000158473		"CD molecules", "Immunoglobulin superfamily / C1-set domain containing"	1637	protein-coding gene	gene with protein product		188410	"CD1D antigen, d polypeptide", "CD1d antigen"			2463622	Standard	NM_001766		Approved		uc001frr.3	P15813	OTTHUMG00000022436	ENST00000368171.3:c.660G>A	1.37:g.158152720G>A							p.L220L	NM_001766.3	NP_001757.1	P15813	CD1D_HUMAN			5	1159	+	all_hematologic(112;0.0378)		220			Ig-like.		D3DVD5|Q5W0J3|Q9UMM3|Q9Y5M4	Silent	SNP	ENST00000368171.3	37	c.660G>A	CCDS1173.1																																																																																				0.597	CD1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058340.1	NM_001766		4	75	0	0	0	1	0	4	75					A	158152720	G	A	158152720	2	1	386	1	0	0	0	0	0	0	0	1	2977	1306	46	3		3	CD1D	1	158152720	Silent	SNP	G	TCGA-V1-A9OH-01A-11D-A41K-08	5961552	158152720	91097901	5	18917											
TNN	63923	broad.mit.edu	37	chr1	175116119	175116119	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attctccattccttacgtggAgttgaaaatccgccctcatg	9	13	7	12	2	2	1	1	1	1	0	5	2	4	2	4	1	1	1	4	1	3	4			TCGA-V1-A9OH-01A-11D-A41K-08	TCGA-V1-A9OH-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	447d759f-3770-49ac-8ff4-80ede8b435cd	ea11e1b5-ed5c-47f0-a320-9b8bffa66a4d	g.chr1:175116119A>G	ENST00000239462.4	+	19	3925	c.3812A>G	c.(3811-3813)gAg>gGg	p.E1271G		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	1271	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				axonogenesis (GO:0007409)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)	cell surface (GO:0009986)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		CCTTACGTGGAGTTGAAAATC	0.517											OREG0013992	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000239462.4																			0				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156						c.(3811-3813)gAg>gGg		tenascin N							66	65	65					1																	175116119		2203	4300	6503	SO:0001583	missense	63923				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix		g.chr1:175116119A>G	AK127044	CCDS30943.1	1q23-q24	2013-02-11			ENSG00000120332	ENSG00000120332		"Fibrinogen C domain containing", "Fibronectin type III domain containing"	22942	protein-coding gene	gene with protein product							Standard	NM_022093		Approved		uc001gkl.1	Q9UQP3	OTTHUMG00000034882	ENST00000239462.4:c.3812A>G	1.37:g.175116119A>G	ENSP00000239462:p.Glu1271Gly		OREG0013992	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1921		p.E1271G	NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)	19	3925	+		Breast(1374;0.000962)	1271			Fibrinogen C-terminal.		B9EGP3|Q5R360	Missense_Mutation	SNP	ENST00000239462.4	37	c.3812A>G	CCDS30943.1	.	.	.	.	.	.	.	.	.	.	A	24.9	4.577548	0.86645	.	.	ENSG00000120332	ENST00000239462;ENST00000539081	T	0.78707	-1.2	5.8	4.68	0.58851	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (4);	0.052405	0.85682	D	0.000000	D	0.91418	0.7292	H	0.97587	4.035	0.54753	D	0.999984	D	0.71674	0.998	D	0.74023	0.982	D	0.92717	0.6188	10	0.87932	D	0	.	11.3331	0.49487	0.9288:0.0:0.0712:0.0	.	1271	Q9UQP3	TENN_HUMAN	G	1271;1094	ENSP00000239462:E1271G	ENSP00000239462:E1271G	E	+	2	0	TNN	173382742	1.000000	0.71417	0.846000	0.33378	0.992000	0.81027	8.612000	0.90909	1.033000	0.39918	0.472000	0.43445	GAG		0.517	TNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084422.1	XM_040527		4	90	0	0	0	1	0	4	90					G	175116119	A	G	175116119	3	3	386	1	0	0	0	0	1	0	0	0	16320	304	11	4	3882	4	TNN	1	175116119	Missense_Mutation	SNP	A	TCGA-V1-A9OH-01A-11D-A41K-08	16963399	175116119	74134502	6	18918											
HMCN1	83872	broad.mit.edu	37	chr1	186017954	186017954	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tggaaaaactgaaaaaaactAcaatgtcaacatttggggta	19	9	8	5	0	1	1	1	1	0	0	1	2	1	2	0	3	4	1	0	3	9	3	rs138702288		TCGA-V1-A9OH-01A-11D-A41K-08	TCGA-V1-A9OH-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	447d759f-3770-49ac-8ff4-80ede8b435cd	ea11e1b5-ed5c-47f0-a320-9b8bffa66a4d	g.chr1:186017954A>G	ENST00000271588.4	+	42	6789	c.6560A>G	c.(6559-6561)tAc>tGc	p.Y2187C	HMCN1_ENST00000367492.2_Missense_Mutation_p.Y2187C	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	2187	Ig-like C2-type 19.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						GAAAAAAACTACAATGTCAAC	0.353																																						ENST00000271588.4																			0				NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						c.(6559-6561)tAc>tGc		hemicentin 1							92	94	93					1																	186017954		2203	4300	6503	SO:0001583	missense	83872				response to stimulus|visual perception	basement membrane	calcium ion binding	g.chr1:186017954A>G	AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"Fibulins", "Immunoglobulin superfamily / I-set domain containing"	19194	protein-coding gene	gene with protein product	"fibulin 6"	608548	"age-related macular degeneration 1 (senile macular degeneration)"	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.6560A>G	1.37:g.186017954A>G	ENSP00000271588:p.Tyr2187Cys					HMCN1_ENST00000367492.2_Missense_Mutation_p.Y2187C	p.Y2187C	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN			42	6789	+			2187			Ig-like C2-type 19.		A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Missense_Mutation	SNP	ENST00000271588.4	37	c.6560A>G	CCDS30956.1	.	.	.	.	.	.	.	.	.	.	A	16.10	3.027116	0.54683	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	T;T	0.66638	-0.22;-0.22	5.26	5.26	0.73747	Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.055731	0.85682	D	0.000000	T	0.73473	0.3591	L	0.42686	1.345	0.58432	D	0.999991	D	0.89917	1.0	D	0.91635	0.999	T	0.72381	-0.4311	10	0.38643	T	0.18	.	10.6852	0.45839	0.8574:0.0:0.0:0.1426	.	2187	Q96RW7	HMCN1_HUMAN	C	2187	ENSP00000271588:Y2187C;ENSP00000356462:Y2187C	ENSP00000271588:Y2187C	Y	+	2	0	HMCN1	184284577	1.000000	0.71417	1.000000	0.80357	0.679000	0.39708	5.747000	0.68689	2.106000	0.64143	0.455000	0.32223	TAC		0.353	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935		7	60	0	0	0	1	0	7	60					G	186017954	A	G	186017954	3	3	386	1	0	0	0	0	1	0	0	0	7220	391	14	4	6726	4	HMCN1	1	186017954	Missense_Mutation	SNP	A	TCGA-V1-A9OH-01A-11D-A41K-08	10901835	186017954	63232667	7	18919											
OR2M2	391194	broad.mit.edu	37	chr1	248343434	248343434	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tctgtcatggttctcctcatCtacctggacacccagctcca	7	12	6	16	0	5	0	2	0	3	0	7	1	6	1	4	2	2	2	4	2	1	2	rs568039481		TCGA-V1-A9OH-01A-11D-A41K-08	TCGA-V1-A9OH-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	447d759f-3770-49ac-8ff4-80ede8b435cd	ea11e1b5-ed5c-47f0-a320-9b8bffa66a4d	g.chr1:248343434C>T	ENST00000359682.2	+	1	147	c.147C>T	c.(145-147)atC>atT	p.I49I		NM_001004688.1	NP_001004688.1	Q96R28	OR2M2_HUMAN	olfactory receptor, family 2, subfamily M, member 2	49						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(45)|ovary(3)|prostate(1)|skin(3)	70	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			TTCTCCTCATCTACCTGGACA	0.532																																						ENST00000359682.2																			0				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(45)|ovary(3)|prostate(1)|skin(3)	70						c.(145-147)atC>atT		olfactory receptor, family 2, subfamily M, member 2							302	289	293					1																	248343434		2203	4300	6503	SO:0001819	synonymous_variant	391194				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248343434C>T	AF399616	CCDS31106.1	1q44	2012-08-09			ENSG00000198601	ENSG00000198601		"GPCR / Class A : Olfactory receptors"	8268	protein-coding gene	gene with protein product						12213199	Standard	NM_001004688		Approved	OST423, OR2M2Q	uc010pzf.2	Q96R28	OTTHUMG00000040460	ENST00000359682.2:c.147C>T	1.37:g.248343434C>T							p.I49I	NM_001004688.1	NP_001004688.1	Q96R28	OR2M2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0245)		1	147	+	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		49					A3KFT4	Silent	SNP	ENST00000359682.2	37	c.147C>T	CCDS31106.1																																																																																				0.532	OR2M2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097356.2	NM_001004688		9	225	0	0	0	1	0	9	225					T	248343434	C	T	248343434	2	4	386	1	0	0	0	0	0	0	0	1	11010	903	32	3		3	OR2M2	1	248343434	Silent	SNP	C	TCGA-V1-A9OH-01A-11D-A41K-08	62325480	248343434	907187	8	18920											
SCTR	6344	broad.mit.edu	37	chr2	120236398	120236398	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agtggttaccatttctgctgGtgagcatccggaggaatctc	8	12	12	9	1	2	1	0	1	2	0	4	3	3	3	2	4	3	3	2	4	2	2			TCGA-V1-A9OH-01A-11D-A41K-08	TCGA-V1-A9OH-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	447d759f-3770-49ac-8ff4-80ede8b435cd	ea11e1b5-ed5c-47f0-a320-9b8bffa66a4d	g.chr2:120236398G>T	ENST00000019103.5	-	3	557	c.290C>A	c.(289-291)aCc>aAc	p.T97N	AC013275.2_ENST00000413602.1_RNA|AC013275.2_ENST00000457436.1_RNA	NM_002980.2	NP_002971.2	P47872	SCTR_HUMAN	secretin receptor	97					digestion (GO:0007586)|excretion (GO:0007588)|G-protein coupled receptor signaling pathway (GO:0007186)	cytoplasmic microtubule (GO:0005881)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	secretin receptor activity (GO:0015055)			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3)	19					Secretin(DB00021)	ATTTCTGCTGGTGAGCATCCG	0.632																																						ENST00000019103.5																			0				central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3)	19						c.(289-291)aCc>aAc		secretin receptor	Secretin(DB00021)						73	64	67					2																	120236398		2203	4300	6503	SO:0001583	missense	6344				digestion|excretion	integral to plasma membrane	secretin receptor activity	g.chr2:120236398G>T		CCDS2127.1	2q14.1	2012-08-10			ENSG00000080293	ENSG00000080293		"GPCR / Class B : Glucagon receptors"	10608	protein-coding gene	gene with protein product		182098				1646711	Standard	NM_002980		Approved		uc002tma.3	P47872	OTTHUMG00000131407	ENST00000019103.5:c.290C>A	2.37:g.120236398G>T	ENSP00000019103:p.Thr97Asn					AC013275.2_ENST00000413602.1_RNA|AC013275.2_ENST00000457436.1_RNA	p.T97N	NM_002980.2	NP_002971.2	P47872	SCTR_HUMAN			3	557	-			97					Q12961|Q13213|Q53T00	Missense_Mutation	SNP	ENST00000019103.5	37	c.290C>A	CCDS2127.1	.	.	.	.	.	.	.	.	.	.	G	1.830	-0.469988	0.04445	.	.	ENSG00000080293	ENST00000019103	T	0.62364	0.03	4.87	3.97	0.46021	GPCR, family 2, extracellular hormone receptor domain (3);	0.310256	0.27618	N	0.018564	T	0.41096	0.1144	N	0.17674	0.51	0.24915	N	0.992014	B	0.12630	0.006	B	0.19666	0.026	T	0.20207	-1.0282	10	0.09590	T	0.72	.	8.5191	0.33264	0.109:0.0:0.891:0.0	.	97	P47872	SCTR_HUMAN	N	97	ENSP00000019103:T97N	ENSP00000019103:T97N	T	-	2	0	SCTR	119952868	0.994000	0.37717	0.267000	0.24556	0.135000	0.20990	2.442000	0.44873	1.374000	0.46228	0.655000	0.94253	ACC		0.632	SCTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254198.2			8	18	1	0	0.000274275	1	0.000297131	8	18					T	120236398	G	T	120236398	3	4	386	1	0	0	0	0	1	0	0	0	13943	1261	44	5	1076	5	SCTR	2	120236398	Missense_Mutation	SNP	G	TCGA-V1-A9OH-01A-11D-A41K-08		120236398	122962975	9	18921											
CCR1	1230	broad.mit.edu	37	chr3	46244884	46244884	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tgccgcaggtacttccggaaCctctcaccaacgaaggcgta	10	7	10	14	4	1	0	1	0	1	0	3	2	2	1	4	3	4	3	4	3	5	3			TCGA-V1-A9OH-01A-11D-A41K-08	TCGA-V1-A9OH-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	447d759f-3770-49ac-8ff4-80ede8b435cd	ea11e1b5-ed5c-47f0-a320-9b8bffa66a4d	g.chr3:46244884C>A	ENST00000296140.3	-	2	1046	c.921G>T	c.(919-921)agG>agT	p.R307S	CCR3_ENST00000357422.2_Intron	NM_001295.2	NP_001286.1	P32246	CCR1_HUMAN	chemokine (C-C motif) receptor 1	307					calcium ion transport (GO:0006816)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|cellular calcium ion homeostasis (GO:0006874)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|cytokine-mediated signaling pathway (GO:0019221)|dendritic cell chemotaxis (GO:0002407)|exocytosis (GO:0006887)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|immune response (GO:0006955)|inflammatory response (GO:0006954)|metabolic process (GO:0008152)|negative regulation of bone mineralization (GO:0030502)|negative regulation of gene expression (GO:0010629)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of monocyte chemotaxis (GO:0090026)|positive regulation of osteoclast differentiation (GO:0045672)|response to wounding (GO:0009611)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	C-C chemokine binding (GO:0019957)|C-C chemokine receptor activity (GO:0016493)|chemokine (C-C motif) ligand 5 binding (GO:0071791)|chemokine (C-C motif) ligand 7 binding (GO:0035717)|chemokine receptor activity (GO:0004950)|phosphatidylinositol phospholipase C activity (GO:0004435)			autonomic_ganglia(1)|large_intestine(6)|lung(6)|pancreas(1)|skin(3)	17				BRCA - Breast invasive adenocarcinoma(193;0.00113)|KIRC - Kidney renal clear cell carcinoma(197;0.0172)|Kidney(197;0.0203)		ACTTCCGGAACCTCTCACCAA	0.582																																						ENST00000296140.3																			0				autonomic_ganglia(1)|large_intestine(6)|lung(6)|pancreas(1)|skin(3)	17						c.(919-921)agG>agT		chemokine (C-C motif) receptor 1							96	82	86					3																	46244884		2203	4300	6503	SO:0001583	missense	1230				cell adhesion|cell-cell signaling|cytokine-mediated signaling pathway|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|G-protein signaling, coupled to cyclic nucleotide second messenger|immune response|inflammatory response	integral to plasma membrane	C-C chemokine receptor activity	g.chr3:46244884C>A		CCDS2737.1	3p21	2012-08-08			ENSG00000163823	ENSG00000163823		"GPCR / Class A : Chemokine receptors : C-C motif", "CD molecules"	1602	protein-coding gene	gene with protein product		601159		SCYAR1, CMKBR1		7679328	Standard	NM_001295		Approved	CKR-1, MIP1aR, CD191	uc003cph.1	P32246	OTTHUMG00000133451	ENST00000296140.3:c.921G>T	3.37:g.46244884C>A	ENSP00000296140:p.Arg307Ser					CCR3_ENST00000357422.2_Intron	p.R307S	NM_001295.2	NP_001286.1	P32246	CCR1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00113)|KIRC - Kidney renal clear cell carcinoma(197;0.0172)|Kidney(197;0.0203)	2	1046	-			307					Q86VA9	Missense_Mutation	SNP	ENST00000296140.3	37	c.921G>T	CCDS2737.1	.	.	.	.	.	.	.	.	.	.	C	13.68	2.309343	0.40895	.	.	ENSG00000163823	ENST00000296140	T	0.37058	1.22	5.41	2.64	0.31445	.	0.473100	0.20208	N	0.096941	T	0.53110	0.1776	M	0.86502	2.82	0.41067	D	0.985428	D	0.58620	0.983	P	0.56127	0.792	T	0.54180	-0.8332	10	0.87932	D	0	.	6.194	0.20540	0.0:0.6026:0.1243:0.2731	.	307	P32246	CCR1_HUMAN	S	307	ENSP00000296140:R307S	ENSP00000296140:R307S	R	-	3	2	CCR1	46219888	0.484000	0.25964	0.557000	0.28306	0.019000	0.09904	-0.154000	0.10130	0.354000	0.24105	-0.304000	0.09214	AGG		0.582	CCR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257325.2	NM_001295		4	21	1	0	0.0215528	1	0.0221199	4	21					A	46244884	C	A	46244884	3	1	386	1	0	0	0	0	1	0	0	0	2939	506	18	5	150	5	CCR1	3	46244884	Missense_Mutation	SNP	C	TCGA-V1-A9OH-01A-11D-A41K-08		46244884	151777546	10	18922											
PRICKLE2	166336	broad.mit.edu	37	chr3	64138975	64138975	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcccagcactgtctcacactCgaagcagcaaaagtgtttca	12	8	8	13	1	2	0	2	0	1	0	4	1	2	0	1	0	3	4	1	0	3	1			TCGA-V1-A9OH-01A-11D-A41K-08	TCGA-V1-A9OH-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	447d759f-3770-49ac-8ff4-80ede8b435cd	ea11e1b5-ed5c-47f0-a320-9b8bffa66a4d	g.chr3:64138975C>T	ENST00000295902.6	-	6	1255	c.670G>A	c.(670-672)Gag>Aag	p.E224K	PRICKLE2_ENST00000564377.1_Missense_Mutation_p.E280K	NM_198859.3	NP_942559.1	Q7Z3G6	PRIC2_HUMAN	prickle homolog 2 (Drosophila)	224	LIM zinc-binding 2. {ECO:0000255|PROSITE- ProRule:PRU00125}.				establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|neuron projection development (GO:0031175)	apicolateral plasma membrane (GO:0016327)|cytoplasm (GO:0005737)|lateral plasma membrane (GO:0016328)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|large_intestine(9)|liver(1)|lung(10)|ovary(4)|prostate(2)|skin(2)|stomach(1)	32		Lung NSC(201;0.136)		BRCA - Breast invasive adenocarcinoma(55;0.000971)|KIRC - Kidney renal clear cell carcinoma(15;0.00443)|Kidney(15;0.00497)		GTCTCACACTCGAAGCAGCAA	0.517																																						ENST00000295902.6																			0				breast(2)|endometrium(1)|large_intestine(9)|liver(1)|lung(10)|ovary(4)|prostate(2)|skin(2)|stomach(1)	32						c.(670-672)Gag>Aag		prickle homolog 2 (Drosophila)							165	145	152					3																	64138975		2203	4300	6503	SO:0001583	missense	166336					cytoplasm|nuclear membrane	zinc ion binding	g.chr3:64138975C>T	AK127839	CCDS2902.1	3p14.3	2006-09-12	2006-09-12		ENSG00000163637	ENSG00000163637			20340	protein-coding gene	gene with protein product		608501	"prickle-like 2 (Drosophila)"			12525887	Standard	NM_198859		Approved	DKFZp686D143	uc003dmf.3	Q7Z3G6	OTTHUMG00000158789	ENST00000295902.6:c.670G>A	3.37:g.64138975C>T	ENSP00000295902:p.Glu224Lys					PRICKLE2_ENST00000564377.1_Missense_Mutation_p.E280K	p.E224K	NM_198859.3	NP_942559.1	Q7Z3G6	PRIC2_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000971)|KIRC - Kidney renal clear cell carcinoma(15;0.00443)|Kidney(15;0.00497)	6	1255	-		Lung NSC(201;0.136)	224			LIM zinc-binding 2.		Q0VF44	Missense_Mutation	SNP	ENST00000295902.6	37	c.670G>A	CCDS2902.1	.	.	.	.	.	.	.	.	.	.	C	37	6.151290	0.97329	.	.	ENSG00000163637	ENST00000295902	D	0.87334	-2.24	5.56	5.56	0.83823	Zinc finger, LIM-type (5);	0.000000	0.64402	D	0.000001	D	0.91331	0.7266	L	0.58925	1.835	0.80722	D	1	D	0.60575	0.988	P	0.58077	0.832	D	0.91577	0.5276	10	0.72032	D	0.01	-40.3549	19.8805	0.96895	0.0:1.0:0.0:0.0	.	224	Q7Z3G6	PRIC2_HUMAN	K	224	ENSP00000295902:E224K	ENSP00000295902:E224K	E	-	1	0	PRICKLE2	64114015	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.776000	0.85560	2.778000	0.95560	0.655000	0.94253	GAG		0.517	PRICKLE2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000352219.1	NM_198859		22	106	0	0	0	1	0	22	106					T	64138975	C	T	64138975	3	4	386	1	0	0	0	0	1	0	0	0	12487	893	31	2	1876	2	PRICKLE2	3	64138975	Missense_Mutation	SNP	C	TCGA-V1-A9OH-01A-11D-A41K-08	17894091	64138975	133883455	11	18923											
KIAA1524	57650	broad.mit.edu	37	chr3	108287155	108287155	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaacagttagcagcatctaTgacatcctggagaattatcc	13	10	9	9	0	1	2	0	1	1	1	3	4	3	3	2	2	3	3	2	2	5	3			TCGA-V1-A9OH-01A-11D-A41K-08	TCGA-V1-A9OH-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	447d759f-3770-49ac-8ff4-80ede8b435cd	ea11e1b5-ed5c-47f0-a320-9b8bffa66a4d	g.chr3:108287155T>C	ENST00000295746.8	-	10	1196	c.1120A>G	c.(1120-1122)Ata>Gta	p.I374V	KIAA1524_ENST00000487834.1_5'UTR|KIAA1524_ENST00000491772.1_Missense_Mutation_p.I215V	NM_020890.2	NP_065941.2	Q8TCG1	CIP2A_HUMAN	KIAA1524	374					positive regulation of neural precursor cell proliferation (GO:2000179)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(21)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						GCAGCATCTATGACATCCTGG	0.373																																						ENST00000295746.8																			0				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(21)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						c.(1120-1122)Ata>Gta		KIAA1524							80	83	82					3																	108287155		2201	4299	6500	SO:0001583	missense	57650					cytoplasm|integral to membrane	protein binding	g.chr3:108287155T>C	AB040957	CCDS33812.1	3q13.13	2014-01-14			ENSG00000163507	ENSG00000163507			29302	protein-coding gene	gene with protein product	"cancerous inhibitor of protein phosphatase 2A"	610643				10819331, 24214971	Standard	NM_020890		Approved	CIP2A	uc003dxb.4	Q8TCG1	OTTHUMG00000159233	ENST00000295746.8:c.1120A>G	3.37:g.108287155T>C	ENSP00000295746:p.Ile374Val					KIAA1524_ENST00000491772.1_Missense_Mutation_p.I215V|KIAA1524_ENST00000487834.1_5'UTR	p.I374V	NM_020890.2	NP_065941.2	Q8TCG1	CIP2A_HUMAN			10	1196	-			374					A1L4J7|B9EGC3|Q6P4G6|Q8WVP8|Q96PI2|Q9H9C6|Q9P204	Missense_Mutation	SNP	ENST00000295746.8	37	c.1120A>G	CCDS33812.1	.	.	.	.	.	.	.	.	.	.	T	14.02	2.409407	0.42715	.	.	ENSG00000163507	ENST00000491772;ENST00000295746	T;T	0.12361	2.69;2.83	5.5	2.95	0.34219	Armadillo-type fold (1);	0.242436	0.42682	N	0.000670	T	0.13030	0.0316	L	0.59436	1.845	0.46478	D	0.999062	B	0.06786	0.001	B	0.10450	0.005	T	0.06197	-1.0840	10	0.31617	T	0.26	-8.3005	7.3775	0.26837	0.0:0.078:0.1427:0.7793	.	374	Q8TCG1	CIP2A_HUMAN	V	215;374	ENSP00000419487:I215V;ENSP00000295746:I374V	ENSP00000295746:I374V	I	-	1	0	KIAA1524	109769845	1.000000	0.71417	0.999000	0.59377	0.937000	0.57800	1.330000	0.33781	0.905000	0.36596	0.533000	0.62120	ATA		0.373	KIAA1524-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353975.2	NM_020890		9	18	0	0	0	1	0	9	18					C	108287155	T	C	108287155	3	2	386	1	0	0	0	0	1	0	0	0	8239	1464	51	4	1645	4	KIAA1524	3	108287155	Missense_Mutation	SNP	T	TCGA-V1-A9OH-01A-11D-A41K-08	44148180	108287155	89735275	12	18924											
CCDC80	151887	broad.mit.edu	37	chr3	112357581	112357581	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagggggcctgtgggagggtGagggggtccagggcctctgc	4	7	22	8	0	1	1	0	1	1	0	2	2	2	2	3	7	1	0	3	7	1	1			TCGA-V1-A9OH-01A-11D-A41K-08	TCGA-V1-A9OH-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	447d759f-3770-49ac-8ff4-80ede8b435cd	ea11e1b5-ed5c-47f0-a320-9b8bffa66a4d	g.chr3:112357581G>T	ENST00000206423.3	-	2	2125	c.1172C>A	c.(1171-1173)tCa>tAa	p.S391*	CCDC80_ENST00000475181.1_5'Flank|CCDC80_ENST00000439685.2_Nonsense_Mutation_p.S391*	NM_199511.1|NM_199512.1	NP_955805.1|NP_955806.1	Q76M96	CCD80_HUMAN	coiled-coil domain containing 80	391	Thr-rich.				extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	basement membrane (GO:0005604)|interstitial matrix (GO:0005614)	heparin binding (GO:0008201)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(21)|ovary(3)|pancreas(2)|prostate(4)	51						GTGGGAGGGTGAGGGGGTCCA	0.602																																						ENST00000206423.3																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(21)|ovary(3)|pancreas(2)|prostate(4)	51						c.(1171-1173)tCa>tAa		coiled-coil domain containing 80							57	56	56					3																	112357581		2203	4300	6503	SO:0001587	stop_gained	151887							g.chr3:112357581G>T	AY333429	CCDS2968.1	3q13.2	2010-12-24			ENSG00000091986	ENSG00000091986			30649	protein-coding gene	gene with protein product	"steroid sensitive gene 1"	608298				15325258, 18178152	Standard	XM_005247135		Approved	URB, SSG1, DRO1	uc003dzf.3	Q76M96	OTTHUMG00000159265	ENST00000206423.3:c.1172C>A	3.37:g.112357581G>T	ENSP00000206423:p.Ser391*					CCDC80_ENST00000439685.2_Nonsense_Mutation_p.S391*	p.S391*	NM_199511.1|NM_199512.1	NP_955805.1|NP_955806.1	Q76M96	CCD80_HUMAN			2	2125	-			391			Thr-rich.		D3DN67|Q5PR20|Q6GPG9|Q8IVT6|Q8NBV1|Q8NHY8	Nonsense_Mutation	SNP	ENST00000206423.3	37	c.1172C>A	CCDS2968.1	.	.	.	.	.	.	.	.	.	.	G	43	10.062193	0.99327	.	.	ENSG00000091986	ENST00000206423;ENST00000439685	.	.	.	4.88	2.82	0.32997	.	1.063170	0.07329	N	0.878889	.	.	.	.	.	.	0.22771	N	0.99875	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	4.3903	8.5808	0.33628	0.2144:0.0:0.7856:0.0	.	.	.	.	X	391	.	ENSP00000206423:S391X	S	-	2	0	CCDC80	113840271	0.253000	0.23982	0.001000	0.08648	0.193000	0.23685	1.353000	0.34045	0.480000	0.27534	0.555000	0.69702	TCA		0.602	CCDC80-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354219.1	NM_199511		4	33	1	0	0.150653	1	0.15261	4	33					T	112357581	G	T	112357581	4	4	386	1	0	0	0	0	0	1	0	0	2854	1294	45	5	1708	5	CCDC80	3	112357581	Nonsense_Mutation	SNP	G	TCGA-V1-A9OH-01A-11D-A41K-08	4070426	112357581	85664849	13	18925											
MUC7	4589	broad.mit.edu	37	chr4	71346917	71346917	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aacacaagctcttctgtagcTacattagcaccagtgaattc	13	11	6	11	0	2	1	0	1	2	0	3	1	2	1	1	0	5	4	1	0	6	5			TCGA-V1-A9OH-01A-11D-A41K-08	TCGA-V1-A9OH-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	447d759f-3770-49ac-8ff4-80ede8b435cd	ea11e1b5-ed5c-47f0-a320-9b8bffa66a4d	g.chr4:71346917T>A	ENST00000304887.5	+	3	646	c.456T>A	c.(454-456)gcT>gcA	p.A152A	MUC7_ENST00000413702.1_Silent_p.A152A|MUC7_ENST00000514512.1_3'UTR|MUC7_ENST00000456088.1_Silent_p.A152A	NM_152291.2	NP_689504.2	Q8TAX7	MUC7_HUMAN	mucin 7, secreted	152	Thr-rich.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(2)|lung(23)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42			Lung(101;0.211)			CTTCTGTAGCTACATTAGCAC	0.483																																						ENST00000413702.1																			0				central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(2)|lung(23)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						c.(454-456)gcT>gcA		mucin 7, secreted							249	222	231					4																	71346917		2203	4300	6503	SO:0001819	synonymous_variant	4589					extracellular region	protein binding	g.chr4:71346917T>A	BC025688	CCDS3541.1	4q13.3	2008-02-05	2006-03-14		ENSG00000171195	ENSG00000171195		"Mucins"	7518	protein-coding gene	gene with protein product		158375	"mucin 7, salivary"			8838308	Standard	NM_152291		Approved	FLJ27047, MG2	uc003hfj.3	Q8TAX7	OTTHUMG00000129916	ENST00000304887.5:c.456T>A	4.37:g.71346917T>A						MUC7_ENST00000456088.1_Silent_p.A152A|MUC7_ENST00000514512.1_3'UTR|MUC7_ENST00000304887.5_Silent_p.A152A	p.A152A	NM_001145006.1	NP_001138478.1	Q8TAX7	MUC7_HUMAN	Lung(101;0.211)		4	744	+			152			Thr-rich.		Q9UCD7|Q9UCD8	Silent	SNP	ENST00000304887.5	37	c.456T>A	CCDS3541.1																																																																																				0.483	MUC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252168.2	NM_152291		4	80	0	0	0	1	0	4	80					A	71346917	T	A	71346917	2	1	386	1	0	0	0	0	0	0	0	1	9981	1509	53	5		5	MUC7	4	71346917	Silent	SNP	T	TCGA-V1-A9OH-01A-11D-A41K-08		71346917	119807359	14	18926											
FGB	2244	broad.mit.edu	37	chr4	155487688	155487688	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttgcaagaggctttgctacaAcaggaaaggccaatcagaaa	16	7	10	8	0	1	2	1	0	0	2	1	3	1	3	1	3	4	3	1	3	6	3			TCGA-V1-A9OH-01A-11D-A41K-08	TCGA-V1-A9OH-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	447d759f-3770-49ac-8ff4-80ede8b435cd	ea11e1b5-ed5c-47f0-a320-9b8bffa66a4d	g.chr4:155487688A>G	ENST00000302068.4	+	3	417	c.354A>G	c.(352-354)caA>caG	p.Q118Q	FGB_ENST00000509493.1_Intron|FGB_ENST00000502545.1_3'UTR	NM_005141.4	NP_005132.2	P02675	FIBB_HUMAN	fibrinogen beta chain	118					blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|cellular protein complex assembly (GO:0043623)|cellular response to interleukin-1 (GO:0071347)|cellular response to leptin stimulus (GO:0044320)|extracellular matrix organization (GO:0030198)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of exocytosis (GO:0045921)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of peptide hormone secretion (GO:0090277)|positive regulation of protein secretion (GO:0050714)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive regulation of vasoconstriction (GO:0045907)|protein polymerization (GO:0051258)|response to calcium ion (GO:0051592)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|cell cortex (GO:0005938)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|plasma membrane (GO:0005886)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|vesicle (GO:0031982)	chaperone binding (GO:0051087)|structural molecule activity (GO:0005198)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(2)|lung(22)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34	all_hematologic(180;0.215)	Renal(120;0.0458)			Sucralfate(DB00364)	CTTTGCTACAACAGGAAAGGC	0.413																																					NSCLC(106;1133 1613 21870 46110 52656)	ENST00000302068.4																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(2)|lung(22)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						c.(352-354)caA>caG		fibrinogen beta chain	Sucralfate(DB00364)						159	146	151					4																	155487688		2203	4300	6503	SO:0001819	synonymous_variant	2244				platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen|soluble fraction	chaperone binding|eukaryotic cell surface binding|protein binding, bridging|receptor binding	g.chr4:155487688A>G		CCDS3786.1	4q28	2014-09-17			ENSG00000171564	ENSG00000171564		"Fibrinogen C domain containing", "Endogenous ligands"	3662	protein-coding gene	gene with protein product		134830	"fibrinogen, B beta polypeptide"				Standard	NM_005141		Approved		uc003ioa.4	P02675	OTTHUMG00000150331	ENST00000302068.4:c.354A>G	4.37:g.155487688A>G						FGB_ENST00000502545.1_3'UTR|FGB_ENST00000509493.1_Intron	p.Q118Q	NM_005141.4	NP_005132.2	P02675	FIBB_HUMAN			3	417	+	all_hematologic(180;0.215)	Renal(120;0.0458)	118					A0JLR9|B2R7G3|Q32Q65|Q3KPF2	Silent	SNP	ENST00000302068.4	37	c.354A>G	CCDS3786.1																																																																																				0.413	FGB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317595.1	NM_005141		8	72	0	0	0	1	0	8	72					G	155487688	A	G	155487688	2	3	386	1	0	0	0	0	0	0	0	1	5831	40	2	4		4	FGB	4	155487688	Silent	SNP	A	TCGA-V1-A9OH-01A-11D-A41K-08	84140771	155487688	35666588	15	18927											
HCN1	348980	broad.mit.edu	37	chr5	45267208	45267208	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacctattcgatctagtcggTcaatggcaactgtctcaaag	11	12	8	10	2	3	0	2	0	2	0	6	1	3	0	1	2	2	1	1	2	6	4			TCGA-V1-A9OH-01A-11D-A41K-08	TCGA-V1-A9OH-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	447d759f-3770-49ac-8ff4-80ede8b435cd	ea11e1b5-ed5c-47f0-a320-9b8bffa66a4d	g.chr5:45267208T>C	ENST00000303230.4	-	7	1823	c.1766A>G	c.(1765-1767)gAc>gGc	p.D589G		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	589					apical protein localization (GO:0045176)|cellular response to cAMP (GO:0071320)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|retinal cone cell development (GO:0046549)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|intracellular cAMP activated cation channel activity (GO:0005222)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated sodium channel activity (GO:0005248)			NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						ATCTAGTCGGTCAATGGCAAC	0.388																																						ENST00000303230.4																			0				NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						c.(1765-1767)gAc>gGc		hyperpolarization activated cyclic nucleotide-gated potassium channel 1							162	149	153					5																	45267208		2203	4300	6503	SO:0001583	missense	348980					integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity	g.chr5:45267208T>C	AF064876	CCDS3952.1	5p12	2011-07-05			ENSG00000164588	ENSG00000164588		"Voltage-gated ion channels / Cyclic nucleotide-regulated channels"	4845	protein-coding gene	gene with protein product		602780		BCNG1		9405696, 9630217, 16382102	Standard	NM_021072		Approved	BCNG-1, HAC-2	uc003jok.3	O60741	OTTHUMG00000131155	ENST00000303230.4:c.1766A>G	5.37:g.45267208T>C	ENSP00000307342:p.Asp589Gly						p.D589G	NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN			7	1823	-			589						Missense_Mutation	SNP	ENST00000303230.4	37	c.1766A>G	CCDS3952.1	.	.	.	.	.	.	.	.	.	.	T	27.9	4.872717	0.91587	.	.	ENSG00000164588	ENST00000303230	T	0.57436	0.4	5.91	5.91	0.95273	Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);Cyclic nucleotide-binding domain (1);	0.000000	0.64402	D	0.000001	T	0.67832	0.2935	M	0.72894	2.215	0.80722	D	1	B	0.31769	0.339	P	0.47891	0.56	T	0.69723	-0.5068	10	0.87932	D	0	.	16.3436	0.83110	0.0:0.0:0.0:1.0	.	589	O60741	HCN1_HUMAN	G	589	ENSP00000307342:D589G	ENSP00000307342:D589G	D	-	2	0	HCN1	45302965	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.698000	0.84413	2.269000	0.75478	0.533000	0.62120	GAC		0.388	HCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253847.1	NM_021072		8	100	0	0	0	1	0	8	100					C	45267208	T	C	45267208	3	2	386	1	0	0	0	0	1	0	0	0	6996	1667	58	4	914	4	HCN1	5	45267208	Missense_Mutation	SNP	T	TCGA-V1-A9OH-01A-11D-A41K-08		45267208	135648052	16	18928											
PCDHA7	56141	broad.mit.edu	37	chr5	140214233	140214233	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcattttgtttgtgaattctCggatcgaccgcgaggagctg	7	13	13	8	4	1	1	0	1	1	0	3	5	1	3	1	2	1	3	1	2	1	4			TCGA-V1-A9OH-01A-11D-A41K-08	TCGA-V1-A9OH-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	447d759f-3770-49ac-8ff4-80ede8b435cd	ea11e1b5-ed5c-47f0-a320-9b8bffa66a4d	g.chr5:140214233C>T	ENST00000525929.1	+	1	265	c.265C>T	c.(265-267)Cgg>Tgg	p.R89W	PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA7_ENST00000378125.3_Missense_Mutation_p.R89W|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron	NM_018910.2	NP_061733.1	Q9UN72	PCDA7_HUMAN	protocadherin alpha 7	89	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGTGAATTCTCGGATCGACCG	0.602																																					NSCLC(160;258 2013 5070 22440 28951)	ENST00000525929.1																			0				NS(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63						c.(265-267)Cgg>Tgg									110	133	125					5																	140214233		2203	4297	6500	SO:0001583	missense	0							g.chr5:140214233C>T	AF152485	CCDS54918.1	5q31	2010-11-26				ENSG00000204963		"Cadherins / Protocadherins : Clustered"	8673	other	complex locus constituent	"KIAA0345-like 7", "ortholog to mouse CNR4"	606313		CNRS4		10380929, 10662547	Standard	NM_018910		Approved	CNR4, CRNR4		Q9UN72		ENST00000525929.1:c.265C>T	5.37:g.140214233C>T	ENSP00000436426:p.Arg89Trp					PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA7_ENST00000378125.3_Missense_Mutation_p.R89W|PCDHA4_ENST00000512229.2_Intron	p.R89W	NM_018910.2	NP_061733.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	265	+								O75282	Missense_Mutation	SNP	ENST00000525929.1	37	c.265C>T	CCDS54918.1	.	.	.	.	.	.	.	.	.	.	C	17.37	3.372811	0.61624	.	.	ENSG00000204963	ENST00000525929;ENST00000378125	T;T	0.36157	1.27;1.27	4.17	4.17	0.49024	Cadherin, N-terminal (1);Cadherin (4);Cadherin-like (1);	1.186040	0.06988	U	0.821100	T	0.70422	0.3222	H	0.98664	4.295	0.21967	N	0.999449	P;D	0.54601	0.929;0.967	P;P	0.56474	0.799;0.708	T	0.60084	-0.7332	10	0.72032	D	0.01	.	8.9613	0.35849	0.1664:0.6724:0.1612:0.0	.	89;89	Q9UN72-2;Q9UN72	.;PCDA7_HUMAN	W	89	ENSP00000436426:R89W;ENSP00000367365:R89W	ENSP00000367365:R89W	R	+	1	2	PCDHA7	140194417	0.000000	0.05858	1.000000	0.80357	0.968000	0.65278	0.181000	0.16880	2.028000	0.59812	0.449000	0.29647	CGG		0.602	PCDHA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372887.2	NM_018910		42	159	0	0	0	1	0	42	159					T	140214233	C	T	140214233	3	4	386	1	0	0	0	0	1	0	0	0	11529	875	31	2	267	2	PCDHA7	5	140214233	Missense_Mutation	SNP	C	TCGA-V1-A9OH-01A-11D-A41K-08	94947025	140214233	40701027	17	18929											
PCDHB2	56133	broad.mit.edu	37	chr5	140476345	140476345	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gagcctccgcgctcggccacCgccacgctgcacgtgctcct	4	6	11	20	6	0	0	0	0	0	0	3	1	2	0	6	1	3	4	6	1	0	0	rs571517800		TCGA-V1-A9OH-01A-11D-A41K-08	TCGA-V1-A9OH-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	447d759f-3770-49ac-8ff4-80ede8b435cd	ea11e1b5-ed5c-47f0-a320-9b8bffa66a4d	g.chr5:140476345C>T	ENST00000194155.4	+	1	2119	c.1971C>T	c.(1969-1971)acC>acT	p.T657T		NM_018936.2	NP_061759.1	Q9Y5E7	PCDB2_HUMAN	protocadherin beta 2	657	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCTCGGCCACCGCCACGCTGC	0.716																																						ENST00000194155.4																			0				NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	71						c.(1969-1971)acC>acT									36	35	35					5																	140476345		1843	3701	5544	SO:0001819	synonymous_variant	0				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	g.chr5:140476345C>T	AF152495	CCDS4244.1	5q31	2010-01-26			ENSG00000112852	ENSG00000112852		"Cadherins / Protocadherins : Clustered"	8687	other	protocadherin		606328				10380929	Standard	NM_018936		Approved	PCDH-BETA2	uc003lil.3	Q9Y5E7	OTTHUMG00000129606	ENST00000194155.4:c.1971C>T	5.37:g.140476345C>T							p.T657T	NM_018936.2	NP_061759.1	Q9Y5E7	PCDB2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	2119	+			657			Cadherin 6.		Q4KMU1	Silent	SNP	ENST00000194155.4	37	c.1971C>T	CCDS4244.1																																																																																				0.716	PCDHB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251801.2	NM_018936		4	73	0	0	0	1	0	4	73					T	140476345	C	T	140476345	2	4	386	1	0	0	0	0	0	0	0	1	11542	639	23	2		2	PCDHB2	5	140476345	Silent	SNP	C	TCGA-V1-A9OH-01A-11D-A41K-08	262112	140476345	40438915	18	18930											
ZNF300	91975	broad.mit.edu	37	chr5	150276300	150276300	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cactcttgaaatattttcccCagtggattatatttatgccc	10	16	5	10	0	1	1	0	1	1	0	2	2	2	2	3	1	1	0	3	1	5	8			TCGA-V1-A9OH-01A-11D-A41K-08	TCGA-V1-A9OH-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	447d759f-3770-49ac-8ff4-80ede8b435cd	ea11e1b5-ed5c-47f0-a320-9b8bffa66a4d	g.chr5:150276300C>A	ENST00000274599.5	-	6	921	c.501G>T	c.(499-501)ctG>ctT	p.L167L	ZNF300_ENST00000446148.2_Silent_p.L183L|ZNF300_ENST00000418587.2_Silent_p.L131L|ZNF300_ENST00000394226.2_Silent_p.L167L|ZNF300_ENST00000427179.1_3'UTR	NM_052860.2	NP_443092.1	Q96RE9	ZN300_HUMAN	zinc finger protein 300	167					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(4)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)	27		Medulloblastoma(196;0.109)|all_hematologic(541;0.131)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ATATTTTCCCCAGTGGATTAT	0.343																																						ENST00000446148.2																			0				endometrium(4)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)	27						c.(547-549)ctG>ctT		zinc finger protein 300							97	98	98					5																	150276300		2203	4300	6503	SO:0001819	synonymous_variant	91975				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr5:150276300C>A	AF395541	CCDS4311.2, CCDS54939.1, CCDS54940.1	5q33.1	2013-01-08			ENSG00000145908	ENSG00000145908		"Zinc fingers, C2H2-type", "-"	13091	protein-coding gene	gene with protein product		612429				14746915	Standard	NM_052860		Approved		uc021yfx.1	Q96RE9	OTTHUMG00000130076	ENST00000274599.5:c.501G>T	5.37:g.150276300C>A						ZNF300_ENST00000418587.2_Silent_p.L131L|ZNF300_ENST00000394226.2_Silent_p.L167L|ZNF300_ENST00000427179.1_3'UTR|ZNF300_ENST00000274599.5_Silent_p.L167L	p.L183L	NM_001172831.1	NP_001166302.1	Q96RE9	ZN300_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		7	976	-		Medulloblastoma(196;0.109)|all_hematologic(541;0.131)	167					A8MY91|B3KU35|B4DU78|F5GWS1|Q06DQ3|Q17RP3|Q5H9N5	Silent	SNP	ENST00000274599.5	37	c.549G>T	CCDS4311.2																																																																																				0.343	ZNF300-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		NM_052860		4	103	1	0	0.00024832	1	0.000272802	4	103					A	150276300	C	A	150276300	2	1	386	1	0	0	0	0	0	0	0	1	17828	581	21	5		5	ZNF300	5	150276300	Silent	SNP	C	TCGA-V1-A9OH-01A-11D-A41K-08	9799955	150276300	30638960	19	18931											
ATP10B	23120	broad.mit.edu	37	chr5	160047362	160047362	+	Frame_Shift_Del	DEL	G	G	-																															ggcaggactcaccgcaggctGggtcttccagcaggtccatg																										TCGA-V1-A9OH-01A-11D-A41K-08	TCGA-V1-A9OH-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	447d759f-3770-49ac-8ff4-80ede8b435cd	ea11e1b5-ed5c-47f0-a320-9b8bffa66a4d	g.chr5:160047362delG	ENST00000327245.5	-	15	3254	c.2408delC	c.(2407-2409)ccafs	p.P803fs	CTC-348L5.1_ENST00000523598.1_RNA	NM_025153.2	NP_079429.2	O94823	AT10B_HUMAN	ATPase, class V, type 10B	803					phospholipid translocation (GO:0045332)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			ACCGCAGGCTGGGTCTTCCAG	0.507																																						ENST00000327245.5																			0				NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75						c.(2407-2409)cafs		ATPase, class V, type 10B							59	62	61					5																	160047362		2033	4191	6224	SO:0001589	frameshift_variant	23120				ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr5:160047362delG	AB018258	CCDS43394.1	5q34	2010-04-20	2007-09-19		ENSG00000118322	ENSG00000118322		"ATPases / P-type"	13543	protein-coding gene	gene with protein product			"ATPase, Class V, type 10B"			9872452, 11015572	Standard	NM_025153		Approved	ATPVB, KIAA0715, FLJ21477	uc003lym.1	O94823	OTTHUMG00000163551	ENST00000327245.5:c.2408delC	5.37:g.160047362delG	ENSP00000313600:p.Pro803fs					CTC-348L5.1_ENST00000523598.1_RNA	p.P803fs	NM_025153.2	NP_079429.2	O94823	AT10B_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		15	3254	-	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	803					Q9H725	Frame_Shift_Del	DEL	ENST00000327245.5	37	c.2408delC	CCDS43394.1																																																																																				0.507	ATP10B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374127.1	NM_025153		8	43						8	43	---	---	---	---	-	160047362	G	-	160047362	7	5	386	1	0	1	0	1	0	0	0	0	1117	1348	47	0	2025	0	ATP10B	5	160047362	Frame_Shift_Del	DEL	G	TCGA-V1-A9OH-01A-11D-A41K-08	9771062	160047362	20867898	20	18932											
DSP	1832	broad.mit.edu	37	chr6	7583265	7583266	+	Frame_Shift_Del	DEL	AC	AC	-																															tggaggattctaccagggagAcacagtcacagttagaaaca																										TCGA-V1-A9OH-01A-11D-A41K-08	TCGA-V1-A9OH-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	447d759f-3770-49ac-8ff4-80ede8b435cd	ea11e1b5-ed5c-47f0-a320-9b8bffa66a4d	g.chr6:7583265_7583266delAC	ENST00000379802.3	+	24	6111_6112	c.5770_5771delAC	c.(5770-5772)acafs	p.T1924fs	DSP_ENST00000418664.2_Frame_Shift_Del_p.T1325fs	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	1924	Central fibrous rod domain.				adherens junction organization (GO:0034332)|apoptotic process (GO:0006915)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|desmosome organization (GO:0002934)|epidermis development (GO:0008544)|intermediate filament organization (GO:0045109)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)|protein localization to adherens junction (GO:0071896)|regulation of heart rate by cardiac conduction (GO:0086091)|single organismal cell-cell adhesion (GO:0016337)|ventricular cardiac muscle cell action potential (GO:0086005)|ventricular compact myocardium morphogenesis (GO:0003223)|wound healing (GO:0042060)	basolateral plasma membrane (GO:0016323)|cornified envelope (GO:0001533)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intercalated disc (GO:0014704)|intermediate filament (GO:0005882)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|protein binding, bridging (GO:0030674)|protein kinase C binding (GO:0005080)|scaffold protein binding (GO:0097110)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		TACCAGGGAGACACAGTCACAG	0.49																																						ENST00000379802.3																			0				biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101						c.(5770-5772)afs		desmoplakin																																				SO:0001589	frameshift_variant	1832				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton	g.chr6:7583265_7583266delAC	J05211	CCDS4501.1, CCDS47368.1	6p24.3	2014-09-17	2003-05-20		ENSG00000096696	ENSG00000096696			3052	protein-coding gene	gene with protein product		125647	"desmoplakin (DPI, DPII)"			1889810	Standard	NM_004415		Approved	KPPS2, PPKS2, DPI, DPII	uc003mxp.1	P15924	OTTHUMG00000014212	ENST00000379802.3:c.5770_5771delAC	6.37:g.7583267_7583268delAC	ENSP00000369129:p.Thr1924fs					DSP_ENST00000418664.2_Frame_Shift_Del_p.T1325fs	p.T1924fs	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN		OV - Ovarian serous cystadenocarcinoma(45;0.000508)	24	6111_6112	+	Ovarian(93;0.0584)	all_hematologic(90;0.236)	1924			Central fibrous rod domain.		B2RTT2|D7RX09|O75993|Q14189|Q9UHN4	Frame_Shift_Del	DEL	ENST00000379802.3	37	c.5770_5771delAC	CCDS4501.1																																																																																				0.49	DSP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039786.2	NM_004415		9	67						9	67	---	---	---	---	-	7583266	AC	-	7583265	7	5	386	1	0	1	0	1	0	0	0	0	4781	275	10	0	5864	0	DSP	6	7583265	Frame_Shift_Del	DEL	AC	TCGA-V1-A9OH-01A-11D-A41K-08		7583265	163531802	21	18933											
DDR1	780	broad.mit.edu	37	chr6	30865883	30865883	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctgcatgtggcagcccagatCgcctccggcatgcgctatct	6	9	11	15	3	1	1	0	0	1	1	3	1	2	1	3	2	3	4	3	2	1	1	rs201248998		TCGA-V1-A9OH-01A-11D-A41K-08	TCGA-V1-A9OH-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	447d759f-3770-49ac-8ff4-80ede8b435cd	ea11e1b5-ed5c-47f0-a320-9b8bffa66a4d	g.chr6:30865883C>T	ENST00000324771.8	+	18	2798	c.2250C>T	c.(2248-2250)atC>atT	p.I750I	DDR1_ENST00000446312.1_3'UTR|DDR1_ENST00000376568.3_Silent_p.I750I|DDR1_ENST00000452441.1_Silent_p.I750I|DDR1_ENST00000454612.2_Silent_p.I713I|DDR1_ENST00000513240.1_Silent_p.I756I|DDR1_ENST00000508312.1_Silent_p.I731I|DDR1_ENST00000376575.3_Silent_p.I756I|DDR1_ENST00000418800.2_Silent_p.I713I|DDR1_ENST00000376567.2_Silent_p.I713I|DDR1_ENST00000376570.4_Silent_p.I713I|DDR1_ENST00000361741.4_Silent_p.I417I|DDR1_ENST00000376569.3_Silent_p.I713I			Q08345	DDR1_HUMAN	discoidin domain receptor tyrosine kinase 1	750	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				branching involved in mammary gland duct morphogenesis (GO:0060444)|cell adhesion (GO:0007155)|collagen-activated tyrosine kinase receptor signaling pathway (GO:0038063)|ear development (GO:0043583)|embryo implantation (GO:0007566)|extracellular matrix organization (GO:0030198)|lactation (GO:0007595)|mammary gland alveolus development (GO:0060749)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine autophosphorylation (GO:0038083)|protein autophosphorylation (GO:0046777)|regulation of cell growth (GO:0001558)|regulation of cell-matrix adhesion (GO:0001952)|regulation of extracellular matrix disassembly (GO:0010715)|smooth muscle cell migration (GO:0014909)|smooth muscle cell-matrix adhesion (GO:0061302)|wound healing, spreading of cells (GO:0044319)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|collagen binding (GO:0005518)|metal ion binding (GO:0046872)|protein tyrosine kinase collagen receptor activity (GO:0038062)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(14)|ovary(1)|prostate(1)|skin(1)	29					Imatinib(DB00619)	CAGCCCAGATCGCCTCCGGCA	0.567																																						ENST00000324771.8																			0				central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(14)|ovary(1)|prostate(1)|skin(1)	29						c.(2248-2250)atC>atT		discoidin domain receptor tyrosine kinase 1	Imatinib(DB00619)						44	44	44					6																	30865883		2203	4300	6503	SO:0001819	synonymous_variant	780				cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular region|integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity	g.chr6:30865883C>T	X99031	CCDS4690.1, CCDS34385.1, CCDS47396.1, CCDS56411.1, CCDS75419.1	6p21.33	2010-02-17	2008-01-23		ENSG00000204580	ENSG00000204580	2.7.10.1	"CD molecules"	2730	protein-coding gene	gene with protein product		600408	"discoidin domain receptor family, member 1"	NTRK4, PTK3A, NEP, CAK, EDDR1		7789998	Standard	NM_001954		Approved	RTK6, CD167	uc003nrv.3	Q08345	OTTHUMG00000031236	ENST00000324771.8:c.2250C>T	6.37:g.30865883C>T						DDR1_ENST00000376569.3_Silent_p.I713I|DDR1_ENST00000376567.2_Silent_p.I713I|DDR1_ENST00000376568.3_Silent_p.I750I|DDR1_ENST00000418800.2_Silent_p.I713I|DDR1_ENST00000454612.2_Silent_p.I713I|DDR1_ENST00000361741.4_Silent_p.I417I|DDR1_ENST00000446312.1_3'UTR|DDR1_ENST00000376570.4_Silent_p.I713I|DDR1_ENST00000376575.3_Silent_p.I756I|DDR1_ENST00000452441.1_Silent_p.I750I|DDR1_ENST00000513240.1_Silent_p.I756I|DDR1_ENST00000508312.1_Silent_p.I731I	p.I750I			Q08345	DDR1_HUMAN			18	2798	+			750			Protein kinase.		B5A975|B5A976|B7Z2K0|Q14196|Q16562|Q2L6H3|Q4LE50|Q5ST11|Q5ST12|Q6NSK4|Q9UD35|Q9UD36|Q9UD37|Q9UD86|Q9UDL2	Silent	SNP	ENST00000324771.8	37	c.2250C>T	CCDS34385.1	.	.	.	.	.	.	.	.	.	.	C	9.665	1.145069	0.21288	.	.	ENSG00000204580	ENST00000484556	.	.	.	4.96	-7.45	0.01374	.	.	.	.	.	T	0.51466	0.1676	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.66606	-0.5881	4	.	.	.	.	17.3859	0.87415	0.0:0.1569:0.0:0.8431	.	.	.	.	L	107	.	.	S	+	2	0	DDR1	30973862	0.000000	0.05858	0.532000	0.27989	0.923000	0.55619	-4.144000	0.00286	-1.779000	0.01280	-0.244000	0.11960	TCG		0.567	DDR1-005	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000076494.3	NM_013994		4	27	0	0	0	1	0	4	27					T	30865883	C	T	30865883	2	4	386	1	0	0	0	0	0	0	0	1	4336	874	31	2		2	DDR1	6	30865883	Silent	SNP	C	TCGA-V1-A9OH-01A-11D-A41K-08	23282618	30865883	140249184	22	18934											
GPSM3	63940	broad.mit.edu	37	chr6	32159588	32159588	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tggggggtgtagaaggtggcCctctgctcctccaggcggcg	4	8	18	11	2	1	1	0	0	1	1	3	1	3	1	3	7	1	2	3	7	2	1			TCGA-V1-A9OH-01A-11D-A41K-08	TCGA-V1-A9OH-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	447d759f-3770-49ac-8ff4-80ede8b435cd	ea11e1b5-ed5c-47f0-a320-9b8bffa66a4d	g.chr6:32159588C>A	ENST00000375040.3	-	3	635	c.243G>T	c.(241-243)agG>agT	p.R81S	GPSM3_ENST00000487761.1_Missense_Mutation_p.R78S|GPSM3_ENST00000375043.3_Missense_Mutation_p.R81S|PBX2_ENST00000375050.4_5'Flank	NM_001276501.1	NP_001263430.1	Q9Y4H4	GPSM3_HUMAN	G-protein signaling modulator 3	81	GoLoco 1. {ECO:0000255|PROSITE- ProRule:PRU00097}.				regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	cytoplasm (GO:0005737)	GDP-dissociation inhibitor activity (GO:0005092)			large_intestine(1)	1						AGAAGGTGGCCCTCTGCTCCT	0.642																																						ENST00000375040.3																			0				large_intestine(1)	1						c.(241-243)agG>agT		G-protein signaling modulator 3							46	59	54					6																	32159588		1507	2707	4214	SO:0001583	missense	63940				signal transduction	cytoplasm	GTPase activator activity|protein binding	g.chr6:32159588C>A	AF155657	CCDS34419.1	6p21.3	2010-06-24	2010-06-24	2004-02-04	ENSG00000213654	ENSG00000213654			13945	protein-coding gene	gene with protein product	"activator of G-protein signaling 4"		"chromosome 6 open reading frame 9", "G-protein signalling modulator 3 (AGS3-like, C. elegans)"	C6orf9		2259622, 15096500	Standard	NM_022107		Approved	NG1, G18, G18.1a, G18.1b, G18.2, AGS4	uc003oaz.3	Q9Y4H4	OTTHUMG00000031244	ENST00000375040.3:c.243G>T	6.37:g.32159588C>A	ENSP00000364180:p.Arg81Ser					GPSM3_ENST00000487761.1_Missense_Mutation_p.R78S|GPSM3_ENST00000375043.3_Missense_Mutation_p.R81S	p.R81S	NM_001276501.1	NP_001263430.1	Q9Y4H4	GPSM3_HUMAN			3	635	-			81			GoLoco 1.		A2BFJ3	Missense_Mutation	SNP	ENST00000375040.3	37	c.243G>T	CCDS34419.1	.	.	.	.	.	.	.	.	.	.	C	13.88	2.368704	0.42003	.	.	ENSG00000213654	ENST00000487761;ENST00000375040;ENST00000375043	.	.	.	4.18	-3.39	0.04868	GoLoco motif (3);	0.000000	0.64402	U	0.000015	T	0.37865	0.1019	L	0.29908	0.895	0.38429	D	0.946386	D;D	0.59767	0.986;0.986	P;P	0.61328	0.887;0.887	T	0.47573	-0.9107	9	0.87932	D	0	-0.6308	9.8788	0.41220	0.0:0.2685:0.0:0.7315	.	81;81	Q9Y4H4;A2BFJ3	GPSM3_HUMAN;.	S	78;81;81	.	ENSP00000364180:R81S	R	-	3	2	GPSM3	32267566	0.994000	0.37717	0.973000	0.42090	0.421000	0.31385	-0.054000	0.11826	-0.601000	0.05783	0.460000	0.39030	AGG		0.642	GPSM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076509.1	NM_022107		7	44	1	0	1.26484e-09	1	1.42982e-09	7	44					A	32159588	C	A	32159588	3	1	386	1	0	0	0	0	1	0	0	0	6736	622	22	5	247	5	GPSM3	6	32159588	Missense_Mutation	SNP	C	TCGA-V1-A9OH-01A-11D-A41K-08	1293705	32159588	138955479	23	18935											
SLC22A7	10864	broad.mit.edu	37	chr6	43271915	43271915	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctgctggctgccggcaccGccctcctgctgccagagacg	4	6	12	19	3	0	1	0	0	0	1	1	2	1	1	6	2	4	4	6	2	0	0			TCGA-V1-A9OH-01A-11D-A41K-08	TCGA-V1-A9OH-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	447d759f-3770-49ac-8ff4-80ede8b435cd	ea11e1b5-ed5c-47f0-a320-9b8bffa66a4d	g.chr6:43271915G>A	ENST00000372585.5	+	10	1620	c.1525G>A	c.(1525-1527)Gcc>Acc	p.A509T	SLC22A7_ENST00000372589.3_Missense_Mutation_p.A507T|SLC22A7_ENST00000372574.3_Missense_Mutation_p.A507T|ZNF318_ENST00000607252.1_5'Flank	NM_153320.2	NP_696961.2	Q9Y694	S22A7_HUMAN	solute carrier family 22 (organic anion transporter), member 7	509					organic anion transport (GO:0015711)|response to stilbenoid (GO:0035634)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	sodium-independent organic anion transmembrane transporter activity (GO:0015347)	p.A509T(1)		NS(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(1)|skin(3)	26			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00998)|OV - Ovarian serous cystadenocarcinoma(102;0.0305)		Acetylsalicylic acid(DB00945)|Allopurinol(DB00437)|Aminohippurate(DB00345)|Bumetanide(DB00887)|Cefalotin(DB00456)|Cefamandole(DB01326)|Cefoperazone(DB01329)|Cefotaxime(DB00493)|Cimetidine(DB00501)|Clarithromycin(DB01211)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Docetaxel(DB01248)|Enalapril(DB00584)|Erythromycin(DB00199)|Fluorouracil(DB00544)|Ganciclovir(DB01004)|Glyburide(DB01016)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Methotrexate(DB00563)|Minocycline(DB01017)|Oxtriphylline(DB01303)|Oxytetracycline(DB00595)|Pravastatin(DB00175)|Probenecid(DB01032)|Rifampicin(DB01045)|Salicylic acid(DB00936)|Testosterone(DB00624)|Tetracycline(DB00759)|Theophylline(DB00277)|Valproic Acid(DB00313)|Zalcitabine(DB00943)|Zidovudine(DB00495)	TGCCGGCACCGCCCTCCTGCT	0.637																																						ENST00000372585.5																			1	Substitution - Missense(1)	p.A509T(1)	NS(1)	NS(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(1)|skin(3)	26						c.(1525-1527)Gcc>Acc		solute carrier family 22 (organic anion transporter), member 7							61	70	67					6																	43271915		2203	4299	6502	SO:0001583	missense	10864					basolateral plasma membrane|integral to plasma membrane|membrane fraction	anion:anion antiporter activity|sodium-independent organic anion transmembrane transporter activity	g.chr6:43271915G>A	AF097518	CCDS4892.1, CCDS4893.2	6p21.1	2013-05-22			ENSG00000137204	ENSG00000137204		"Solute carriers"	10971	protein-coding gene	gene with protein product		604995				9650585, 10773670	Standard	XM_006714970		Approved	NLT, OAT2	uc003out.3	Q9Y694	OTTHUMG00000014726	ENST00000372585.5:c.1525G>A	6.37:g.43271915G>A	ENSP00000361666:p.Ala509Thr					SLC22A7_ENST00000372574.3_Missense_Mutation_p.A507T|SLC22A7_ENST00000372589.3_Missense_Mutation_p.A507T	p.A509T	NM_153320.2	NP_696961.2	Q9Y694	S22A7_HUMAN	Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00998)|OV - Ovarian serous cystadenocarcinoma(102;0.0305)		10	1620	+			509					B2CZX6|Q5T046|Q5T048|Q5T050|Q9H2W5	Missense_Mutation	SNP	ENST00000372585.5	37	c.1525G>A	CCDS4893.2	.	.	.	.	.	.	.	.	.	.	G	32	5.106316	0.94292	.	.	ENSG00000137204	ENST00000372589;ENST00000372585;ENST00000372574;ENST00000436107	T;T;T;T	0.59502	0.26;0.26;0.26;0.26	5.34	5.34	0.76211	.	0.120762	0.56097	D	0.000031	T	0.50497	0.1619	L	0.34521	1.04	0.80722	D	1	D;D	0.71674	0.998;0.998	P;P	0.59115	0.852;0.852	T	0.41215	-0.9521	10	0.20519	T	0.43	.	15.9566	0.79891	0.0:0.0:1.0:0.0	.	507;507	Q9Y694-2;Q9Y694-3	.;.	T	507;509;507;202	ENSP00000361670:A507T;ENSP00000361666:A509T;ENSP00000361655:A507T;ENSP00000393836:A202T	ENSP00000361655:A507T	A	+	1	0	SLC22A7	43379893	0.809000	0.29036	1.000000	0.80357	0.940000	0.58332	4.091000	0.57700	2.497000	0.84241	0.561000	0.74099	GCC		0.637	SLC22A7-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000040588.1			21	55	0	0	0	1	0	21	55					A	43271915	G	A	43271915	3	1	386	1	0	0	0	0	1	0	0	0	14459	1087	38	1	1559	1	SLC22A7	6	43271915	Missense_Mutation	SNP	G	TCGA-V1-A9OH-01A-11D-A41K-08	11112327	43271915	127843152	24	18936											
FAM26E	254228	broad.mit.edu	37	chr6	116833239	116833239	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caatggaactttctatgaatGtgccatgagcgggacgagaa	13	9	12	7	2	1	3	0	2	1	1	1	6	1	5	1	2	3	0	1	2	5	2			TCGA-V1-A9OH-01A-11D-A41K-08	TCGA-V1-A9OH-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	447d759f-3770-49ac-8ff4-80ede8b435cd	ea11e1b5-ed5c-47f0-a320-9b8bffa66a4d	g.chr6:116833239G>C	ENST00000368599.3	+	1	431	c.380G>C	c.(379-381)tGt>tCt	p.C127S	TRAPPC3L_ENST00000356128.4_Intron|TRAPPC3L_ENST00000368602.3_Intron	NM_153711.2	NP_714922.1	Q8N5C1	FA26E_HUMAN	family with sequence similarity 26, member E	127					ion transport (GO:0006811)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1)	7		all_cancers(87;0.0608)|all_epithelial(87;0.05)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0242)|all cancers(137;0.0419)|OV - Ovarian serous cystadenocarcinoma(136;0.0671)|Epithelial(106;0.212)		TTCTATGAATGTGCCATGAGC	0.498																																						ENST00000368599.3																			0				breast(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1)	7						c.(379-381)tGt>tCt		family with sequence similarity 26, member E							57	54	55					6																	116833239		2203	4300	6503	SO:0001583	missense	254228					integral to membrane		g.chr6:116833239G>C	BC032556	CCDS5108.1	6q22.31	2008-02-05	2007-03-19	2007-03-19	ENSG00000178033	ENSG00000178033			21568	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 188"	C6orf188			Standard	NM_153711		Approved	dJ493F7.3, MGC45451	uc003pwy.3	Q8N5C1	OTTHUMG00000015442	ENST00000368599.3:c.380G>C	6.37:g.116833239G>C	ENSP00000357588:p.Cys127Ser					TRAPPC3L_ENST00000356128.4_Intron|TRAPPC3L_ENST00000368602.3_Intron	p.C127S	NM_153711.2	NP_714922.1	Q8N5C1	FA26E_HUMAN		GBM - Glioblastoma multiforme(226;0.0242)|all cancers(137;0.0419)|OV - Ovarian serous cystadenocarcinoma(136;0.0671)|Epithelial(106;0.212)	1	431	+		all_cancers(87;0.0608)|all_epithelial(87;0.05)|Colorectal(196;0.234)	127					B2RDJ9|B3KSR3	Missense_Mutation	SNP	ENST00000368599.3	37	c.380G>C	CCDS5108.1	.	.	.	.	.	.	.	.	.	.	G	24.7	4.557022	0.86231	.	.	ENSG00000178033	ENST00000368599	T	0.65732	-0.17	5.19	5.19	0.71726	.	0.000000	0.85682	D	0.000000	T	0.80592	0.4652	M	0.89287	3.02	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.84184	0.0441	10	0.87932	D	0	-1.1948	18.0519	0.89351	0.0:0.0:1.0:0.0	.	127	Q8N5C1	FA26E_HUMAN	S	127	ENSP00000357588:C127S	ENSP00000357588:C127S	C	+	2	0	FAM26E	116939932	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	9.121000	0.94375	2.576000	0.86940	0.561000	0.74099	TGT		0.498	FAM26E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041956.1	NM_153711		4	56	0	0	0	1	0	4	56					C	116833239	G	C	116833239	3	2	386	1	0	0	0	0	1	0	0	0	5550	1377	48	5	382	5	FAM26E	6	116833239	Missense_Mutation	SNP	G	TCGA-V1-A9OH-01A-11D-A41K-08	73561324	116833239	54281828	25	18937											
ACAT2	39	broad.mit.edu	37	chr6	160198397	160198397	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agaagctgataaacgtgggcTtacacctttagcacggatag	13	9	11	8	2	0	2	0	1	0	1	0	3	0	3	1	2	4	3	1	2	6	5			TCGA-V1-A9OH-01A-11D-A41K-08	TCGA-V1-A9OH-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	447d759f-3770-49ac-8ff4-80ede8b435cd	ea11e1b5-ed5c-47f0-a320-9b8bffa66a4d	g.chr6:160198397T>G	ENST00000367048.4	+	7	2581	c.821T>G	c.(820-822)cTt>cGt	p.L274R	ACAT2_ENST00000541436.1_Missense_Mutation_p.L303R|ACAT2_ENST00000472052.1_3'UTR|SNORA20_ENST00000384662.1_RNA	NM_005891.2	NP_005882.2	Q9BWD1	THIC_HUMAN	acetyl-CoA acetyltransferase 2	274					lipid metabolic process (GO:0006629)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|nucleus (GO:0005634)	acetyl-CoA C-acetyltransferase activity (GO:0003985)			breast(1)|central_nervous_system(1)|large_intestine(2)|lung(3)|ovary(1)|urinary_tract(1)	9		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;1.51e-18)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06)		AAACGTGGGCTTACACCTTTA	0.428																																						ENST00000367048.4																			0				breast(1)|central_nervous_system(1)|large_intestine(2)|lung(3)|ovary(1)|urinary_tract(1)	9						c.(820-822)cTt>cGt		acetyl-CoA acetyltransferase 2							154	141	145					6																	160198397		2203	4300	6503	SO:0001583	missense	39					mitochondrion|nucleolus	acetyl-CoA C-acetyltransferase activity|protein binding	g.chr6:160198397T>G	AF356877	CCDS5268.1	6q25.3	2014-05-19	2010-04-30		ENSG00000120437	ENSG00000120437	2.3.1.9		94	protein-coding gene	gene with protein product	"acetoacetyl Coenzyme A thiolase"	100678	"acetyl-Coenzyme A acetyltransferase 2 (acetoacetyl Coenzyme A thiolase)", "acetyl-Coenzyme A acetyltransferase 2"			2475872	Standard	NM_005891		Approved		uc010kjy.3	Q9BWD1	OTTHUMG00000015935	ENST00000367048.4:c.821T>G	6.37:g.160198397T>G	ENSP00000356015:p.Leu274Arg					ACAT2_ENST00000472052.1_3'UTR|ACAT2_ENST00000541436.1_Missense_Mutation_p.L303R	p.L274R	NM_005891.2	NP_005882.2	Q9BWD1	THIC_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;1.51e-18)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06)	7	2581	+		Breast(66;0.000776)|Ovarian(120;0.0303)	274					B7Z233|E1P5B1|Q16146|Q5TCL7|Q8TDM4	Missense_Mutation	SNP	ENST00000367048.4	37	c.821T>G	CCDS5268.1	.	.	.	.	.	.	.	.	.	.	T	24.4	4.529065	0.85706	.	.	ENSG00000120437	ENST00000367048;ENST00000541436	D;D	0.93659	-3.26;-3.26	5.91	5.91	0.95273	Thiolase-like, subgroup (1);Thiolase, C-terminal (1);	0.194718	0.45126	D	0.000394	D	0.96950	0.9004	M	0.89840	3.065	0.53688	D	0.999976	D;D	0.89917	1.0;1.0	D;D	0.75020	0.985;0.978	D	0.97554	1.0094	10	0.66056	D	0.02	4.5908	16.3432	0.83101	0.0:0.0:0.0:1.0	.	303;274	B7Z233;Q9BWD1	.;THIC_HUMAN	R	274;303	ENSP00000356015:L274R;ENSP00000437850:L303R	ENSP00000356015:L274R	L	+	2	0	ACAT2	160118387	1.000000	0.71417	0.000000	0.03702	0.885000	0.51271	7.635000	0.83286	2.263000	0.75096	0.377000	0.23210	CTT		0.428	ACAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042912.1	NM_005891		19	76	0	0	0	1	0	19	76					G	160198397	T	G	160198397	3	3	386	1	0	0	0	0	1	0	0	0	122	1609	56	5	847	5	ACAT2	6	160198397	Missense_Mutation	SNP	T	TCGA-V1-A9OH-01A-11D-A41K-08	43365158	160198397	10916670	26	18938											
SNX8	29886	broad.mit.edu	37	chr7	2297433	2297433	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	accacgtcgttctcttcctgCttaccctggaaggcgagggg	6	10	12	13	3	1	0	0	0	1	0	4	2	2	1	3	4	2	2	3	4	2	3			TCGA-V1-A9OH-01A-11D-A41K-08	TCGA-V1-A9OH-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	447d759f-3770-49ac-8ff4-80ede8b435cd	ea11e1b5-ed5c-47f0-a320-9b8bffa66a4d	g.chr7:2297433C>A	ENST00000222990.3	-	8	963	c.921G>T	c.(919-921)aaG>aaT	p.K307N		NM_013321.2	NP_037453.1	Q9Y5X2	SNX8_HUMAN	sorting nexin 8	307					early endosome to Golgi transport (GO:0034498)|intracellular protein transport (GO:0006886)	early endosome membrane (GO:0031901)	identical protein binding (GO:0042802)|phosphatidylinositol binding (GO:0035091)			breast(2)|endometrium(5)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(2)|skin(3)	26		Ovarian(82;0.11)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0853)|OV - Ovarian serous cystadenocarcinoma(56;3.79e-14)		TCTCTTCCTGCTTACCCTGGA	0.612																																						ENST00000222990.3																			0				breast(2)|endometrium(5)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(2)|skin(3)	26						c.(919-921)aaG>aaT		sorting nexin 8							252	232	239					7																	2297433		2203	4300	6503	SO:0001583	missense	29886				cell communication|early endosome to Golgi transport|intracellular protein transport	early endosome membrane	phosphatidylinositol binding|protein binding	g.chr7:2297433C>A	AF121858	CCDS5331.1	7p22.3	2010-08-05			ENSG00000106266	ENSG00000106266		"Sorting nexins"	14972	protein-coding gene	gene with protein product		614905					Standard	NM_013321		Approved	Mvp1	uc003slw.3	Q9Y5X2	OTTHUMG00000151512	ENST00000222990.3:c.921G>T	7.37:g.2297433C>A	ENSP00000222990:p.Lys307Asn						p.K307N	NM_013321.2	NP_037453.1	Q9Y5X2	SNX8_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0853)|OV - Ovarian serous cystadenocarcinoma(56;3.79e-14)	8	963	-		Ovarian(82;0.11)	307					A4D207|Q96I67	Missense_Mutation	SNP	ENST00000222990.3	37	c.921G>T	CCDS5331.1	.	.	.	.	.	.	.	.	.	.	C	9.121	1.009039	0.19199	.	.	ENSG00000106266	ENST00000222990	T	0.22539	1.95	5.32	0.404	0.16355	.	0.228456	0.44483	D	0.000441	T	0.12518	0.0304	N	0.25647	0.755	0.35084	D	0.763642	B	0.25007	0.116	B	0.22601	0.04	T	0.14587	-1.0467	10	0.38643	T	0.18	.	8.5897	0.33679	0.0:0.3154:0.0:0.6846	.	307	Q9Y5X2	SNX8_HUMAN	N	307	ENSP00000222990:K307N	ENSP00000222990:K307N	K	-	3	2	SNX8	2263959	0.998000	0.40836	0.807000	0.32361	0.532000	0.34746	0.431000	0.21444	-0.166000	0.10890	-0.312000	0.09012	AAG		0.612	SNX8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322949.2			35	137	1	0	6.29468e-14	1	7.43917e-14	35	137					A	2297433	C	A	2297433	3	1	386	1	0	0	0	0	1	0	0	0	14908	796	28	5	492	5	SNX8	7	2297433	Missense_Mutation	SNP	C	TCGA-V1-A9OH-01A-11D-A41K-08		2297433	156841230	27	18939											
TAX1BP1	8887	broad.mit.edu	37	chr7	27831673	27831673	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ttcgtaaagcagaggaacagGttcaggcaactcggcaagaa	15	6	12	8	2	1	2	1	0	0	2	3	3	1	3	0	4	3	5	0	4	6	3			TCGA-V1-A9OH-01A-11D-A41K-08	TCGA-V1-A9OH-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	447d759f-3770-49ac-8ff4-80ede8b435cd	ea11e1b5-ed5c-47f0-a320-9b8bffa66a4d	g.chr7:27831673G>C	ENST00000396319.2	+	9	1175	c.1087G>C	c.(1087-1089)Gtt>Ctt	p.V363L	TAX1BP1_ENST00000409980.1_Missense_Mutation_p.V363L|TAX1BP1_ENST00000433216.2_Missense_Mutation_p.V206L|TAX1BP1_ENST00000265393.6_Missense_Mutation_p.V363L|TAX1BP1_ENST00000543117.1_Missense_Mutation_p.V363L	NM_006024.6	NP_006015.4	Q86VP1	TAXB1_HUMAN	Tax1 (human T-cell leukemia virus type I) binding protein 1	363	Oligomerization.				apoptotic process (GO:0006915)|innate immune response (GO:0045087)|negative regulation of apoptotic process (GO:0043066)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of type I interferon production (GO:0032480)	cytosol (GO:0005829)	kinase binding (GO:0019900)			breast(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(8)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31			GBM - Glioblastoma multiforme(3;0.0823)			AGAGGAACAGGTTCAGGCAAC	0.408																																						ENST00000396319.2																			0				breast(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(8)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31						c.(1087-1089)Gtt>Ctt		Tax1 (human T-cell leukemia virus type I) binding protein 1							102	95	97					7																	27831673		2203	4300	6503	SO:0001583	missense	8887				anti-apoptosis|apoptosis|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production	cytosol	identical protein binding|kinase binding|zinc ion binding	g.chr7:27831673G>C	U33821	CCDS5415.1, CCDS43561.1, CCDS56471.1	7p15	2010-08-05			ENSG00000106052	ENSG00000106052			11575	protein-coding gene	gene with protein product		605326				10435631	Standard	NM_006024		Approved	TXBP151, CALCOCO3	uc003szl.3	Q86VP1	OTTHUMG00000023377	ENST00000396319.2:c.1087G>C	7.37:g.27831673G>C	ENSP00000379612:p.Val363Leu					TAX1BP1_ENST00000543117.1_Missense_Mutation_p.V363L|TAX1BP1_ENST00000265393.6_Missense_Mutation_p.V363L|TAX1BP1_ENST00000409980.1_Missense_Mutation_p.V363L|TAX1BP1_ENST00000433216.2_Missense_Mutation_p.V206L	p.V363L	NM_006024.6	NP_006015.4	Q86VP1	TAXB1_HUMAN	GBM - Glioblastoma multiforme(3;0.0823)		9	1175	+			363			Oligomerization.		B4DKU7|E7ENV2|O60398|O95770|Q13311|Q9BQG5|Q9UI88	Missense_Mutation	SNP	ENST00000396319.2	37	c.1087G>C	CCDS5415.1	.	.	.	.	.	.	.	.	.	.	G	5.545	0.285486	0.10513	.	.	ENSG00000106052	ENST00000543117;ENST00000265393;ENST00000409980;ENST00000433216;ENST00000396319	T;T;T;T;T	0.06528	3.29;3.29;3.29;3.29;3.29	5.75	3.84	0.44239	.	0.273464	0.25628	N	0.029368	T	0.02047	0.0064	N	0.02708	-0.52	0.28997	N	0.887684	B;B;B	0.13145	0.007;0.0;0.0	B;B;B	0.19148	0.024;0.002;0.002	T	0.43972	-0.9358	10	0.02654	T	1	-9.578	4.7056	0.12848	0.3109:0.1538:0.5353:0.0	.	206;363;363	E7ENV2;Q86VP1;Q86VP1-2	.;TAXB1_HUMAN;.	L	363;363;363;206;363	ENSP00000444811:V363L;ENSP00000265393:V363L;ENSP00000386515:V363L;ENSP00000391907:V206L;ENSP00000379612:V363L	ENSP00000265393:V363L	V	+	1	0	TAX1BP1	27798198	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	1.894000	0.39768	0.795000	0.33922	0.650000	0.86243	GTT		0.408	TAX1BP1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000214142.1	NM_006024		3	63	0	0	0	1	0	3	63					C	27831673	G	C	27831673	3	2	386	1	0	0	0	0	1	0	0	0	15591	1261	44	5	1117	5	TAX1BP1	7	27831673	Missense_Mutation	SNP	G	TCGA-V1-A9OH-01A-11D-A41K-08	25534240	27831673	131306990	28	18940											
ZCWPW1	55063	broad.mit.edu	37	chr7	99998887	99998887	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccaggttctttggcactgttCtaacttcttttccctctgaa	6	17	6	12	0	4	1	0	1	4	0	5	1	5	1	2	2	1	3	2	2	2	7			TCGA-V1-A9OH-01A-11D-A41K-08	TCGA-V1-A9OH-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	447d759f-3770-49ac-8ff4-80ede8b435cd	ea11e1b5-ed5c-47f0-a320-9b8bffa66a4d	g.chr7:99998887C>T	ENST00000398027.2	-	18	1944	c.1697G>A	c.(1696-1698)aGa>aAa	p.R566K	ZCWPW1_ENST00000360951.4_Missense_Mutation_p.E496K|ZCWPW1_ENST00000490721.1_Missense_Mutation_p.R395K|ZCWPW1_ENST00000324725.6_Missense_Mutation_p.R395K	NM_017984.4	NP_060454.3	Q9H0M4	ZCPW1_HUMAN	zinc finger, CW type with PWWP domain 1	566							zinc ion binding (GO:0008270)			breast(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)	16	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					TGGCACTGTTCTAACTTCTTT	0.532																																						ENST00000398027.2																			0				breast(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)	16						c.(1696-1698)aGa>aAa		zinc finger, CW type with PWWP domain 1							55	53	54					7																	99998887		1873	4096	5969	SO:0001583	missense	55063						zinc ion binding	g.chr7:99998887C>T	AK000919	CCDS43623.1, CCDS59067.1	7q22.1	2012-02-10	2004-11-03		ENSG00000078487	ENSG00000078487			23486	protein-coding gene	gene with protein product			"zinc finger, CW-type with PWWP domain 1"			11230166, 14607086, 20826339	Standard	NM_017984		Approved	FLJ10057, DKFZp434N0510, ZCW1	uc003uut.4	Q9H0M4	OTTHUMG00000159537	ENST00000398027.2:c.1697G>A	7.37:g.99998887C>T	ENSP00000381109:p.Arg566Lys					ZCWPW1_ENST00000490721.1_Missense_Mutation_p.R395K|ZCWPW1_ENST00000360951.4_Missense_Mutation_p.E496K|ZCWPW1_ENST00000324725.6_Missense_Mutation_p.R395K	p.R566K	NM_017984.4	NP_060454.3	Q9H0M4	ZCPW1_HUMAN			18	1944	-	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		566					A8MVF5|B4DUQ2|Q8NA98|Q9BUD0|Q9NWF7	Missense_Mutation	SNP	ENST00000398027.2	37	c.1697G>A	CCDS43623.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.77|12.77	2.037593|2.037593	0.35989|0.35989	.|.	.|.	ENSG00000078487|ENSG00000078487	ENST00000360951;ENST00000471336|ENST00000398027;ENST00000490721;ENST00000324725	T;T|T;T;T	0.58060|0.44482	0.81;0.36|0.96;0.92;0.92	5.22|5.22	-0.82|-0.82	0.10826|0.10826	.|.	.|.	.|.	.|.	.|.	T|T	0.19287|0.19287	0.0463|0.0463	N|N	0.16656|0.16656	0.425|0.425	0.09310|0.09310	N|N	1|1	B|B;B;B	0.11235|0.21753	0.004|0.029;0.06;0.023	B|B;B;B	0.08055|0.18263	0.003|0.008;0.021;0.008	T|T	0.20042|0.20042	-1.0287|-1.0287	8|8	.|.	.|.	.|.	-0.9269|-0.9269	0.9296|0.9296	0.01332|0.01332	0.1563:0.3441:0.1522:0.3475|0.1563:0.3441:0.1522:0.3475	.|.	496|527;566;395	B4DUQ2|B4DXS7;Q9H0M4;Q9H0M4-4	.|.;ZCPW1_HUMAN;.	K|K	496;218|566;395;395	ENSP00000354210:E496K;ENSP00000418351:E218K|ENSP00000381109:R566K;ENSP00000419187:R395K;ENSP00000314880:R395K	.|.	E|R	-|-	1|2	0|0	ZCWPW1|ZCWPW1	99836823|99836823	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.008000|0.008000	0.06430|0.06430	-0.890000|-0.890000	0.04140|0.04140	-0.048000|-0.048000	0.13401|0.13401	-0.122000|-0.122000	0.15005|0.15005	GAA|AGA		0.532	ZCWPW1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356083.1	NM_017984		15	55	0	0	0	1	0	15	55					T	99998887	C	T	99998887	3	4	386	1	0	0	0	0	1	0	0	0	17594	913	32	3	253	3	ZCWPW1	7	99998887	Missense_Mutation	SNP	C	TCGA-V1-A9OH-01A-11D-A41K-08	72167214	99998887	59139776	29	18941											
MTDH	92140	broad.mit.edu	37	chr8	98736848	98736848	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	ccaagtctgaaactagctggGaatctcccaaacaaataaaa	18	7	6	10	0	2	1	0	1	2	0	3	2	2	2	2	1	3	1	2	1	8	2			TCGA-V1-A9OH-01A-11D-A41K-08	TCGA-V1-A9OH-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	447d759f-3770-49ac-8ff4-80ede8b435cd	ea11e1b5-ed5c-47f0-a320-9b8bffa66a4d	g.chr8:98736848G>C	ENST00000336273.3	+	12	2027	c.1699G>C	c.(1699-1701)Gaa>Caa	p.E567Q	MTDH_ENST00000519934.1_Missense_Mutation_p.E511Q	NM_178812.3	NP_848927.2	Q86UE4	LYRIC_HUMAN	metadherin	567					lipopolysaccharide-mediated signaling pathway (GO:0031663)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of angiogenesis (GO:0045766)|positive regulation of autophagy (GO:0010508)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein kinase B signaling (GO:0051897)|tight junction assembly (GO:0070830)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intercellular canaliculus (GO:0046581)|nuclear body (GO:0016604)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|tight junction (GO:0005923)	double-stranded RNA binding (GO:0003725)|NF-kappaB binding (GO:0051059)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription factor binding (GO:0001085)|transcription coactivator activity (GO:0003713)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(5)|liver(1)|lung(8)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	Breast(36;2.56e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.178)			AACTAGCTGGGAATCTCCCAA	0.338																																						ENST00000336273.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(5)|liver(1)|lung(8)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32						c.(1699-1701)Gaa>Caa		metadherin							99	100	99					8																	98736848		2203	4300	6503	SO:0001583	missense	92140				lipopolysaccharide-mediated signaling pathway|negative regulation of apoptosis|negative regulation of transcription from RNA polymerase II promoter|positive regulation of angiogenesis|positive regulation of autophagy|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of protein kinase B signaling cascade	apical plasma membrane|endoplasmic reticulum membrane|integral to membrane|intercellular canaliculus|nuclear body|nuclear membrane|nucleolus|perinuclear region of cytoplasm|tight junction	NF-kappaB binding|RNA polymerase II transcription factor binding|transcription coactivator activity	g.chr8:98736848G>C	AF411226	CCDS6274.1	8q22.1	2014-07-14			ENSG00000147649	ENSG00000147649			29608	protein-coding gene	gene with protein product	"astrocyte elevated gene 1"	610323				15093543	Standard	NM_178812		Approved	LYRIC, 3D3, AEG-1	uc003yhz.3	Q86UE4	OTTHUMG00000164692	ENST00000336273.3:c.1699G>C	8.37:g.98736848G>C	ENSP00000338235:p.Glu567Gln					MTDH_ENST00000519934.1_Missense_Mutation_p.E511Q	p.E567Q	NM_178812.3	NP_848927.2	Q86UE4	LYRIC_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.178)		12	2027	+	Breast(36;2.56e-06)		567					Q05DH2|Q52QU9|Q6PK07|Q8TCX3	Missense_Mutation	SNP	ENST00000336273.3	37	c.1699G>C	CCDS6274.1	.	.	.	.	.	.	.	.	.	.	G	16.36	3.101843	0.56183	.	.	ENSG00000147649	ENST00000336273;ENST00000519934	T;T	0.53640	0.61;0.61	5.64	5.64	0.86602	.	0.055748	0.64402	D	0.000001	T	0.64316	0.2587	L	0.46157	1.445	0.50467	D	0.99987	D	0.89917	1.0	D	0.85130	0.997	T	0.65487	-0.6156	10	0.87932	D	0	-13.6384	17.8745	0.88821	0.0:0.0:1.0:0.0	.	567	Q86UE4	LYRIC_HUMAN	Q	567;511	ENSP00000338235:E567Q;ENSP00000428168:E511Q	ENSP00000338235:E567Q	E	+	1	0	MTDH	98806024	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.761000	0.74945	2.660000	0.90430	0.655000	0.94253	GAA		0.338	MTDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379772.2			14	79	0	0	0	1	0	14	79					C	98736848	G	C	98736848	3	2	386	1	0	0	0	0	1	0	0	0	9917	1175	41	5	1745	5	MTDH	8	98736848	Missense_Mutation	SNP	G	TCGA-V1-A9OH-01A-11D-A41K-08		98736848	47627174	30	18942											
EIF2C2	27161	broad.mit.edu	37	chr8	141570542	141570542	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaagccaaaccacacttctcGgcccccgccaagagggttag	11	5	10	15	2	1	1	0	0	1	1	2	2	1	1	5	2	2	1	5	2	4	2			TCGA-V1-A9OH-01A-11D-A41K-08	TCGA-V1-A9OH-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	447d759f-3770-49ac-8ff4-80ede8b435cd	ea11e1b5-ed5c-47f0-a320-9b8bffa66a4d	g.chr8:141570542G>A	ENST00000220592.5	-	5	698	c.586C>T	c.(586-588)Cga>Tga	p.R196*	AGO2_ENST00000519980.1_Nonsense_Mutation_p.R196*	NM_012154.3	NP_036286.2	Q9UKV8	AGO2_HUMAN	argonaute RISC catalytic component 2	196					epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|innate immune response (GO:0045087)|mRNA cleavage involved in gene silencing by miRNA (GO:0035279)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|negative regulation of translational initiation (GO:0045947)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|post-embryonic development (GO:0009791)|pre-miRNA processing (GO:0031054)|regulation of transcription, DNA-templated (GO:0006355)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|transcription, DNA-templated (GO:0006351)|translation (GO:0006412)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|membrane (GO:0016020)|micro-ribonucleoprotein complex (GO:0035068)|mRNA cap binding complex (GO:0005845)|nucleus (GO:0005634)|polysome (GO:0005844)|ribonucleoprotein complex (GO:0030529)|RISC complex (GO:0016442)	endoribonuclease activity (GO:0004521)|endoribonuclease activity, cleaving siRNA-paired mRNA (GO:0070551)|metal ion binding (GO:0046872)|miRNA binding (GO:0035198)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|RNA 7-methylguanosine cap binding (GO:0000340)|siRNA binding (GO:0035197)|translation initiation factor activity (GO:0003743)										CACACTTCTCGGCCCCCGCCA	0.612																																						ENST00000220592.5																			0											c.(586-588)Cga>Tga		argonaute RISC catalytic component 2							72	72	72					8																	141570542		2203	4300	6503	SO:0001587	stop_gained	27161							g.chr8:141570542G>A	AF121255	CCDS6380.1, CCDS55279.1	8q24.3	2013-02-15	2013-02-15	2013-02-15	ENSG00000123908	ENSG00000123908		"Argonaute/PIWI family"	3263	protein-coding gene	gene with protein product	"argonaute 2"	606229	"eukaryotic translation initiation factor 2C, 2"	EIF2C2		10534406, 12906857	Standard	NM_012154		Approved	hAGO2, Q10	uc003yvn.3	Q9UKV8	OTTHUMG00000164232	ENST00000220592.5:c.586C>T	8.37:g.141570542G>A	ENSP00000220592:p.Arg196*					AGO2_ENST00000519980.1_Nonsense_Mutation_p.R196*	p.R196*	NM_012154.3	NP_036286.2					5	698	-								Q8TCZ5|Q8WV58|Q96ID1	Nonsense_Mutation	SNP	ENST00000220592.5	37	c.586C>T	CCDS6380.1	.	.	.	.	.	.	.	.	.	.	G	36	5.749432	0.96882	.	.	ENSG00000123908	ENST00000220592;ENST00000519980	.	.	.	5.02	1.54	0.23209	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.26408	T	0.33	-0.4492	7.043	0.25031	0.094:0.0:0.32:0.586	.	.	.	.	X	196	.	ENSP00000220592:R196X	R	-	1	2	EIF2C2	141639724	1.000000	0.71417	0.994000	0.49952	0.988000	0.76386	3.028000	0.49705	0.577000	0.29470	0.655000	0.94253	CGA		0.612	AGO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377866.4			11	83	0	0	0	1	0	11	83					A	141570542	G	A	141570542	4	1	386	1	0	0	0	0	0	1	0	0	5006	1124	39	2	2053	2	EIF2C2	8	141570542	Nonsense_Mutation	SNP	G	TCGA-V1-A9OH-01A-11D-A41K-08	42833694	141570542	4793480	31	18943											
DDX58	23586	broad.mit.edu	37	chr9	32457378	32457378	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgtggtctactcacaaagcaTtccttaaaagcatctccaag	13	11	6	11	0	3	0	1	0	2	0	5	0	4	0	2	1	3	2	2	1	5	3			TCGA-V1-A9OH-01A-11D-A41K-08	TCGA-V1-A9OH-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	447d759f-3770-49ac-8ff4-80ede8b435cd	ea11e1b5-ed5c-47f0-a320-9b8bffa66a4d	g.chr9:32457378T>C	ENST00000379883.2	-	18	2677	c.2520A>G	c.(2518-2520)gaA>gaG	p.E840E	DDX58_ENST00000379868.1_Silent_p.E637E|DDX58_ENST00000542096.1_Silent_p.E769E|DDX58_ENST00000379882.1_Silent_p.E795E	NM_014314.3	NP_055129.2	O95786	DDX58_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 58	840	Interaction with ZC3HAV1.|Repressor domain.				cytoplasmic pattern recognition receptor signaling pathway in response to virus (GO:0039528)|detection of virus (GO:0009597)|innate immune response (GO:0045087)|negative regulation of type I interferon production (GO:0032480)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription factor import into nucleus (GO:0042993)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell migration (GO:0030334)|regulation of type III interferon production (GO:0034344)|response to exogenous dsRNA (GO:0043330)|response to virus (GO:0009615)|RIG-I signaling pathway (GO:0039529)|viral process (GO:0016032)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)	ATP binding (GO:0005524)|double-stranded DNA binding (GO:0003690)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|identical protein binding (GO:0042802)|single-stranded RNA binding (GO:0003727)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(1)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	27			LUSC - Lung squamous cell carcinoma(29;0.00813)	GBM - Glioblastoma multiforme(74;0.00056)		TCACAAAGCATTCCTTAAAAG	0.418																																						ENST00000379882.1																			0				autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(1)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	27						c.(2383-2385)gaA>gaG		DEAD (Asp-Glu-Ala-Asp) box polypeptide 58							66	62	63					9																	32457378		2203	4300	6503	SO:0001819	synonymous_variant	23586				detection of virus|innate immune response|negative regulation of type I interferon production|positive regulation of defense response to virus by host|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter	cytosol	ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|protein binding|zinc ion binding	g.chr9:32457378T>C	AF038963	CCDS6526.1	9p12	2011-08-05			ENSG00000107201	ENSG00000107201		"DEAD-boxes"	19102	protein-coding gene	gene with protein product	"RNA helicase RIG-I", "retinoic acid inducible gene I"	609631				21690088	Standard	NM_014314		Approved	RIG-I, FLJ13599, DKFZp434J1111	uc003zra.3	O95786	OTTHUMG00000019746	ENST00000379883.2:c.2520A>G	9.37:g.32457378T>C						DDX58_ENST00000379883.2_Silent_p.E840E|DDX58_ENST00000379868.1_Silent_p.E637E|DDX58_ENST00000542096.1_Silent_p.E769E	p.E795E			O95786	DDX58_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.00813)	GBM - Glioblastoma multiforme(74;0.00056)	17	2542	-			840			Repressor domain.		A2RU81|Q5HYE1|Q5VYT1|Q9NT04	Silent	SNP	ENST00000379883.2	37	c.2385A>G	CCDS6526.1																																																																																				0.418	DDX58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052011.1	NM_014314		4	45	0	0	0	1	0	4	45					C	32457378	T	C	32457378	2	2	386	1	0	0	0	0	0	0	0	1	4375	1490	52	4		4	DDX58	9	32457378	Silent	SNP	T	TCGA-V1-A9OH-01A-11D-A41K-08		32457378	108756053	32	18944											
FAM75C1	441452	broad.mit.edu	37	chr9	90535736	90535736	+	RNA	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taccaaaacctggtgcatctTcaactcgtcagtccagcaag	12	9	7	13	1	3	0	2	0	1	0	5	0	4	0	3	1	5	2	3	1	5	2			TCGA-V1-A9OH-01A-11D-A41K-08	TCGA-V1-A9OH-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	447d759f-3770-49ac-8ff4-80ede8b435cd	ea11e1b5-ed5c-47f0-a320-9b8bffa66a4d	g.chr9:90535736T>A	ENST00000602681.1	+	0	1640							P0DKV0	S31C1_HUMAN	SPATA31 subfamily C, member 1						cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											TGGTGCATCTTCAACTCGTCA	0.577																																						ENST00000602681.1																			0																				125	110	114					9																	90535736		692	1591	2283			0							g.chr9:90535736T>A	AK093374		9q22.1	2014-03-18	2012-10-12	2012-10-12	ENSG00000230246	ENSG00000230246			27846	other	unknown			"family with sequence similarity 75, member C1"	FAM75C1			Standard	NM_001145124		Approved	FLJ36055	uc010mqi.3	P0DKV0	OTTHUMG00000020160		9.37:g.90535736T>A														0	1640	+									RNA	SNP	ENST00000602681.1	37																																																																																						0.577	SPATA31C1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000467313.1	NM_001145124		36	93	0	0	0	1	0	36	93					A	90535736	T	A	90535736	1	1	386	0	1	0	0	0	0	0	0	0	5623	1783	62	5		5	FAM75C1	9	90535736	RNA	SNP	T	TCGA-V1-A9OH-01A-11D-A41K-08	58078358	90535736	50677695	33	18945											
GARNL3	84253	broad.mit.edu	37	chr9	130094618	130094618	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagctcactgatgatgagatGttcagcaatggtgagtgatc	11	11	12	7	0	2	5	2	5	0	1	3	6	2	5	0	1	2	3	0	1	1	1			TCGA-V1-A9OH-01A-11D-A41K-08	TCGA-V1-A9OH-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	447d759f-3770-49ac-8ff4-80ede8b435cd	ea11e1b5-ed5c-47f0-a320-9b8bffa66a4d	g.chr9:130094618G>A	ENST00000373387.4	+	8	1012	c.660G>A	c.(658-660)atG>atA	p.M220I	GARNL3_ENST00000314904.5_Missense_Mutation_p.M220I|GARNL3_ENST00000435213.2_Missense_Mutation_p.M198I	NM_032293.4	NP_115669.3	Q5VVW2	GARL3_HUMAN	GTPase activating Rap/RanGAP domain-like 3	220	Rap-GAP. {ECO:0000255|PROSITE- ProRule:PRU00165}.				regulation of small GTPase mediated signal transduction (GO:0051056)		GTPase activator activity (GO:0005096)|small GTPase regulator activity (GO:0005083)			NS(1)|central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(24)|ovary(1)|skin(1)|urinary_tract(2)	41						ATGATGAGATGTTCAGCAATG	0.453																																						ENST00000373387.4																			0				NS(1)|central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(24)|ovary(1)|skin(1)|urinary_tract(2)	41						c.(658-660)atG>atA		GTPase activating Rap/RanGAP domain-like 3							215	212	213					9																	130094618		2203	4300	6503	SO:0001583	missense	84253				regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity|small GTPase regulator activity	g.chr9:130094618G>A	BC034983	CCDS6869.2, CCDS69663.1	9q34.13	2009-09-14	2004-08-09		ENSG00000136895	ENSG00000136895			25425	protein-coding gene	gene with protein product			"GTPase activating RANGAP domain-like 3"			11230166	Standard	NM_032293		Approved	DKFZp761J1523, bA356B19.1	uc011mae.2	Q5VVW2	OTTHUMG00000020700	ENST00000373387.4:c.660G>A	9.37:g.130094618G>A	ENSP00000362485:p.Met220Ile					GARNL3_ENST00000314904.5_Missense_Mutation_p.M220I|GARNL3_ENST00000435213.2_Missense_Mutation_p.M198I	p.M220I	NM_032293.4	NP_115669.3	Q5VVW2	GARL3_HUMAN			8	1012	+			220			Rap-GAP.		B4DEP7|B7Z3Q6|Q8IYU1|Q8N951|Q8ND89|Q9BQH6	Missense_Mutation	SNP	ENST00000373387.4	37	c.660G>A	CCDS6869.2	.	.	.	.	.	.	.	.	.	.	G	26.8	4.775731	0.90195	.	.	ENSG00000136895	ENST00000439286;ENST00000373399;ENST00000435213;ENST00000314904;ENST00000373387	D;D;D;D	0.91407	-2.84;-2.84;-2.84;-2.84	5.8	5.8	0.92144	Rap/ran-GAP (2);	0.037254	0.85682	D	0.000000	D	0.87337	0.6152	N	0.25789	0.76	0.80722	D	1	P;P;B	0.45569	0.861;0.6;0.128	P;B;B	0.44860	0.462;0.364;0.112	D	0.85850	0.1403	9	.	.	.	.	18.6269	0.91344	0.0:0.0:1.0:0.0	.	220;198;161	Q5VVW2;B7Z3Q6;Q5VVW4	GARL3_HUMAN;.;.	I	243;243;198;220;220	ENSP00000400579:M243I;ENSP00000396205:M198I;ENSP00000313970:M220I;ENSP00000362485:M220I	.	M	+	3	0	GARNL3	129134439	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.900000	0.92551	2.735000	0.93741	0.655000	0.94253	ATG		0.453	GARNL3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054151.3	NM_032293		6	154	0	0	0	1	0	6	154					A	130094618	G	A	130094618	3	1	386	1	0	0	0	0	1	0	0	0	6241	1377	48	3	690	3	GARNL3	9	130094618	Missense_Mutation	SNP	G	TCGA-V1-A9OH-01A-11D-A41K-08	39558882	130094618	11118813	34	18946											
TAF3	83860	broad.mit.edu	37	chr10	8051082	8051082	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcccccgaggccaagccggCgccctcgcagaacaggccga	8	2	13	18	5	0	1	0	0	0	1	1	3	0	1	6	3	3	1	6	3	2	0			TCGA-V1-A9OH-01A-11D-A41K-08	TCGA-V1-A9OH-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	447d759f-3770-49ac-8ff4-80ede8b435cd	ea11e1b5-ed5c-47f0-a320-9b8bffa66a4d	g.chr10:8051082C>T	ENST00000344293.5	+	5	2563	c.2357C>T	c.(2356-2358)gCg>gTg	p.A786V		NM_031923.3	NP_114129.1	Q5VWG9	TAF3_HUMAN	TAF3 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 140kDa	786	Pro-rich.				maintenance of protein location in nucleus (GO:0051457)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)	zinc ion binding (GO:0008270)			NS(2)|breast(4)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(3)|prostate(4)|skin(2)	40						GCCAAGCCGGCGCCCTCGCAG	0.667																																						ENST00000344293.5																			0				NS(2)|breast(4)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(3)|prostate(4)|skin(2)	40						c.(2356-2358)gCg>gTg		TAF3 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 140kDa							43	48	46					10																	8051082		1784	3964	5748	SO:0001583	missense	83860				maintenance of protein location in nucleus|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	transcription factor TFIID complex	protein binding|zinc ion binding	g.chr10:8051082C>T	AJ292190	CCDS41487.1	10p15.1	2013-01-28	2002-08-29		ENSG00000165632	ENSG00000165632		"Zinc fingers, PHD-type"	17303	protein-coding gene	gene with protein product		606576	"TAF3 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 140 kD"			11438666, 18549481	Standard	NM_031923		Approved	TAF140, TAFII140	uc010qbd.3	Q5VWG9	OTTHUMG00000017643	ENST00000344293.5:c.2357C>T	10.37:g.8051082C>T	ENSP00000340271:p.Ala786Val						p.A786V	NM_031923.3	NP_114129.1	Q5VWG9	TAF3_HUMAN			5	2563	+			786			Pro-rich.		Q05DA0|Q6GMS5|Q6P6B5|Q86VY6|Q9BQS9|Q9UFI8	Missense_Mutation	SNP	ENST00000344293.5	37	c.2357C>T	CCDS41487.1	.	.	.	.	.	.	.	.	.	.	C	9.109	1.006182	0.19199	.	.	ENSG00000165632	ENST00000344293	T	0.19105	2.17	5.85	2.94	0.34122	.	0.600012	0.14906	N	0.291523	T	0.23094	0.0558	M	0.65975	2.015	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.18366	-1.0339	10	0.29301	T	0.29	-5.2073	11.2585	0.49069	0.0:0.6958:0.2396:0.0646	.	786	Q5VWG9	TAF3_HUMAN	V	786	ENSP00000340271:A786V	ENSP00000340271:A786V	A	+	2	0	TAF3	8091088	0.078000	0.21339	0.000000	0.03702	0.005000	0.04900	3.592000	0.53993	0.359000	0.24239	-0.882000	0.02950	GCG		0.667	TAF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046725.1	NM_031923		4	35	0	0	0	1	0	4	35					T	8051082	C	T	8051082	3	4	386	1	0	0	0	0	1	0	0	0	15522	768	27	1	2375	1	TAF3	10	8051082	Missense_Mutation	SNP	C	TCGA-V1-A9OH-01A-11D-A41K-08		8051082	127483665	35	18947											
SEC24C	9632	broad.mit.edu	37	chr10	75530047	75530047	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cttttgtctagacaaagtctCccgttgagagtactaccgaa	11	12	8	10	2	2	2	0	1	2	2	3	4	2	2	2	0	2	2	2	0	5	6			TCGA-V1-A9OH-01A-11D-A41K-08	TCGA-V1-A9OH-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	447d759f-3770-49ac-8ff4-80ede8b435cd	ea11e1b5-ed5c-47f0-a320-9b8bffa66a4d	g.chr10:75530047C>T	ENST00000339365.2	+	22	3034	c.2872C>T	c.(2872-2874)Ccc>Tcc	p.P958S	SEC24C_ENST00000535742.1_Missense_Mutation_p.P206S|SEC24C_ENST00000540668.1_Missense_Mutation_p.P206S|SEC24C_ENST00000496827.1_3'UTR|SEC24C_ENST00000411652.2_Missense_Mutation_p.P839S|SEC24C_ENST00000345254.4_Missense_Mutation_p.P958S|FUT11_ENST00000372841.3_5'Flank|FUT11_ENST00000394790.1_5'Flank	NM_004922.3	NP_004913.2	P53992	SC24C_HUMAN	SEC24 family member C	958					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular protein metabolic process (GO:0044267)|COPII vesicle coating (GO:0048208)|ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|small molecule metabolic process (GO:0044281)	COPII vesicle coat (GO:0030127)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)	zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(12)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	Prostate(51;0.0112)					GACAAAGTCTCCCGTTGAGAG	0.478																																						ENST00000339365.2																			0				breast(2)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(12)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32						c.(2872-2874)Ccc>Tcc		SEC24 family member C							170	173	172					10																	75530047		2203	4300	6503	SO:0001583	missense	9632				COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	protein binding|zinc ion binding	g.chr10:75530047C>T	D38555	CCDS7332.1	10q22	2013-10-21	2013-10-21		ENSG00000176986	ENSG00000176986			10705	protein-coding gene	gene with protein product		607185	"SEC24 (S. cerevisiae) related gene family, member C", "SEC24 family, member C (S. cerevisiae)"			10214955, 7584044	Standard	NM_004922		Approved	KIAA0079	uc001jux.3	P53992	OTTHUMG00000018476	ENST00000339365.2:c.2872C>T	10.37:g.75530047C>T	ENSP00000343405:p.Pro958Ser					SEC24C_ENST00000411652.2_Missense_Mutation_p.P839S|SEC24C_ENST00000345254.4_Missense_Mutation_p.P958S|SEC24C_ENST00000540668.1_Missense_Mutation_p.P206S|SEC24C_ENST00000535742.1_Missense_Mutation_p.P206S|SEC24C_ENST00000496827.1_3'UTR	p.P958S	NM_004922.3	NP_004913.2	P53992	SC24C_HUMAN			22	3034	+	Prostate(51;0.0112)		958					B4DZT4|Q8WV25	Missense_Mutation	SNP	ENST00000339365.2	37	c.2872C>T	CCDS7332.1	.	.	.	.	.	.	.	.	.	.	C	5.622	0.299443	0.10622	.	.	ENSG00000176986	ENST00000535742;ENST00000345254;ENST00000540668;ENST00000339365;ENST00000411652	T;T;T;T;T	0.30714	1.52;1.52;1.52;1.52;1.52	5.91	4.07	0.47477	.	0.209234	0.46758	D	0.000265	T	0.15176	0.0366	N	0.16201	0.385	0.31958	N	0.608771	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.17289	-1.0374	10	0.13470	T	0.59	-6.8525	8.1259	0.30999	0.0:0.6803:0.1693:0.1504	.	839;958	E7EP00;P53992	.;SC24C_HUMAN	S	206;958;206;958;839	ENSP00000446174:P206S;ENSP00000321845:P958S;ENSP00000445023:P206S;ENSP00000343405:P958S;ENSP00000402913:P839S	ENSP00000343405:P958S	P	+	1	0	SEC24C	75200053	1.000000	0.71417	1.000000	0.80357	0.616000	0.37450	1.504000	0.35726	1.503000	0.48686	0.655000	0.94253	CCC		0.478	SEC24C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048679.1			39	157	0	0	0	1	0	39	157					T	75530047	C	T	75530047	3	4	386	1	0	0	0	0	1	0	0	0	13996	855	30	3	2950	3	SEC24C	10	75530047	Missense_Mutation	SNP	C	TCGA-V1-A9OH-01A-11D-A41K-08	67478965	75530047	60004700	36	18948											
PLCE1	51196	broad.mit.edu	37	chr10	95993938	95993938	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaaggtggtgacacgtgccCtgcacatccctggctgtaag	9	8	13	11	1	0	1	0	1	0	0	1	2	1	1	2	3	2	3	2	3	2	1			TCGA-V1-A9OH-01A-11D-A41K-08	TCGA-V1-A9OH-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	447d759f-3770-49ac-8ff4-80ede8b435cd	ea11e1b5-ed5c-47f0-a320-9b8bffa66a4d	g.chr10:95993938C>G	ENST00000371380.3	+	5	2318	c.2083C>G	c.(2083-2085)Ctg>Gtg	p.L695V	PLCE1_ENST00000260766.3_Missense_Mutation_p.L695V|PLCE1_ENST00000371375.1_Missense_Mutation_p.L387V|PLCE1_ENST00000371385.3_Missense_Mutation_p.L387V			Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1	695	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				activation of MAPK activity (GO:0000187)|calcium-mediated signaling (GO:0019722)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|diacylglycerol biosynthetic process (GO:0006651)|epidermal growth factor receptor signaling pathway (GO:0007173)|glomerulus development (GO:0032835)|heart development (GO:0007507)|inositol phosphate metabolic process (GO:0043647)|inositol phosphate-mediated signaling (GO:0048016)|lipid catabolic process (GO:0016042)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|phospholipid metabolic process (GO:0006644)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of GTPase activity (GO:0043547)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|Ras protein signal transduction (GO:0007265)|regulation of cell growth (GO:0001558)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of protein kinase activity (GO:0045859)|regulation of Ras protein signal transduction (GO:0046578)|regulation of smooth muscle contraction (GO:0006940)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|enzyme binding (GO:0019899)|guanyl-nucleotide exchange factor activity (GO:0005085)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|Ras GTPase binding (GO:0017016)|receptor signaling protein activity (GO:0005057)			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				GACACGTGCCCTGCACATCCC	0.542																																						ENST00000260766.3																			0				liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8						c.(2083-2085)Ctg>Gtg		phospholipase C, epsilon 1							152	157	156					10																	95993938		2067	4201	6268	SO:0001583	missense	51196				activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction	cytosol|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity	g.chr10:95993938C>G		CCDS41552.1, CCDS53555.1	10q23	2010-02-22			ENSG00000138193	ENSG00000138193	3.1.4.11		17175	protein-coding gene	gene with protein product	"nephrosis type 3"	608414				11022047, 11022048	Standard	NM_016341		Approved	KIAA1516, PLCE, NPHS3	uc001kjk.3	Q9P212	OTTHUMG00000018789	ENST00000371380.3:c.2083C>G	10.37:g.95993938C>G	ENSP00000360431:p.Leu695Val					PLCE1_ENST00000371385.3_Missense_Mutation_p.L387V|PLCE1_ENST00000371380.2_Missense_Mutation_p.L695V|PLCE1_ENST00000371375.1_Missense_Mutation_p.L387V	p.L695V	NM_016341.3	NP_057425.3	Q9P212	PLCE1_HUMAN			6	2717	+		Colorectal(252;0.0458)	695			Ras-GEF.		A6NGW0|A6NLA1|A7MBN7|A8K1D7|B9EIJ6|Q1X6H8|Q5VWL4|Q5VWL5|Q9H9X8|Q9HBX6|Q9HC53|Q9UHV3	Missense_Mutation	SNP	ENST00000371380.3	37	c.2083C>G	CCDS41552.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.128543	0.77549	.	.	ENSG00000138193	ENST00000260766;ENST00000371380;ENST00000371385;ENST00000371375	T;T;T;T	0.32023	1.47;1.47;1.48;1.48	5.78	3.72	0.42706	Guanine-nucleotide dissociation stimulator CDC25 (4);Ras guanine nucleotide exchange factor, domain (1);	0.080986	0.50627	D	0.000113	T	0.49695	0.1572	M	0.62723	1.935	0.38191	D	0.939902	D;D;D	0.76494	0.999;0.996;0.999	D;P;D	0.70487	0.969;0.897;0.947	T	0.55636	-0.8110	10	0.87932	D	0	.	11.7524	0.51855	0.0:0.8457:0.0:0.1543	.	695;387;695	B7ZM61;Q9P212-2;Q9P212	.;.;PLCE1_HUMAN	V	695;695;387;387	ENSP00000260766:L695V;ENSP00000360431:L695V;ENSP00000360438:L387V;ENSP00000360426:L387V	ENSP00000260766:L695V	L	+	1	2	PLCE1	95983928	0.993000	0.37304	0.705000	0.30386	0.929000	0.56500	3.061000	0.49963	0.755000	0.32990	0.655000	0.94253	CTG		0.542	PLCE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049469.3	NM_016341		4	73	0	0	0	1	0	4	73					G	95993938	C	G	95993938	3	3	386	1	0	0	0	0	1	0	0	0	12034	680	24	5	2387	5	PLCE1	10	95993938	Missense_Mutation	SNP	C	TCGA-V1-A9OH-01A-11D-A41K-08	20463891	95993938	39540809	37	18949											
BUB3	9184	broad.mit.edu	37	chr10	124920076	124920076	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcatacgagcgtttccaaacAagcaggtattgaactatacc	14	9	8	10	2	0	1	0	1	0	0	1	2	1	1	2	1	6	4	2	1	7	6			TCGA-V1-A9OH-01A-11D-A41K-08	TCGA-V1-A9OH-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	447d759f-3770-49ac-8ff4-80ede8b435cd	ea11e1b5-ed5c-47f0-a320-9b8bffa66a4d	g.chr10:124920076A>G	ENST00000368865.4	+	5	780	c.571A>G	c.(571-573)Aag>Gag	p.K191E	BUB3_ENST00000538238.1_Missense_Mutation_p.K111E|BUB3_ENST00000368858.5_Missense_Mutation_p.K191E|BUB3_ENST00000368859.2_Intron	NM_004725.3	NP_004716.1	O43684	BUB3_HUMAN	BUB3 mitotic checkpoint protein	191					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|attachment of spindle microtubules to kinetochore (GO:0008608)|meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid segregation (GO:0000070)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|regulation of chromosome segregation (GO:0051983)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|spindle assembly checkpoint (GO:0071173)	cytosol (GO:0005829)|kinetochore (GO:0000776)|nucleus (GO:0005634)				endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	9		all_neural(114;0.0765)|Colorectal(57;0.102)|all_lung(145;0.11)|Lung NSC(174;0.163)				GTTTCCAAACAAGCAGGTATT	0.438																																					GBM(161;1111 1985 17553 20049 26037)	ENST00000368865.4																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	9						c.(571-573)Aag>Gag		BUB3 mitotic checkpoint protein							117	112	114					10																	124920076		2203	4300	6503	SO:0001583	missense	9184				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|attachment of spindle microtubules to kinetochore|cell division|meiosis|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle	condensed chromosome kinetochore|cytosol|nucleus	protein binding	g.chr10:124920076A>G	AF053304	CCDS7635.1, CCDS31306.1	10q24	2013-01-17	2013-01-17		ENSG00000154473	ENSG00000154473		"WD repeat domain containing"	1151	protein-coding gene	gene with protein product		603719	"BUB3 (budding uninhibited by benzimidazoles 3, yeast) homolog", "budding uninhibited by benzimidazoles 3 homolog (yeast)"			9660858	Standard	NM_004725		Approved	BUB3L	uc001lhe.2	O43684	OTTHUMG00000019197	ENST00000368865.4:c.571A>G	10.37:g.124920076A>G	ENSP00000357858:p.Lys191Glu					BUB3_ENST00000368858.5_Missense_Mutation_p.K191E|BUB3_ENST00000538238.1_Missense_Mutation_p.K111E|BUB3_ENST00000368859.2_Intron	p.K191E	NM_004725.3	NP_004716.1	O43684	BUB3_HUMAN			5	780	+		all_neural(114;0.0765)|Colorectal(57;0.102)|all_lung(145;0.11)|Lung NSC(174;0.163)	191					A6NJ42|B2R6E7|D3DRE9|O43685	Missense_Mutation	SNP	ENST00000368865.4	37	c.571A>G	CCDS7635.1	.	.	.	.	.	.	.	.	.	.	A	17.55	3.416914	0.62511	.	.	ENSG00000154473	ENST00000368865;ENST00000538238;ENST00000368858;ENST00000407911	T;T;T;T	0.69685	-0.42;1.66;-0.42;-0.42	5.23	5.23	0.72850	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.102270	0.64402	D	0.000003	T	0.62073	0.2398	L	0.51853	1.615	0.80722	D	1	B;B	0.15930	0.003;0.015	B;B	0.17722	0.017;0.019	T	0.58323	-0.7656	10	0.34782	T	0.22	0.7301	15.4116	0.74929	1.0:0.0:0.0:0.0	.	191;191	O43684;O43684-2	BUB3_HUMAN;.	E	191;111;191;191	ENSP00000357858:K191E;ENSP00000444354:K111E;ENSP00000357851:K191E;ENSP00000383941:K191E	ENSP00000357851:K191E	K	+	1	0	BUB3	124910066	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	9.307000	0.96226	2.085000	0.62840	0.533000	0.62120	AAG		0.438	BUB3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050835.1			16	39	0	0	0	1	0	16	39					G	124920076	A	G	124920076	3	3	386	1	0	0	0	0	1	0	0	0	1572	131	5	4	585	4	BUB3	10	124920076	Missense_Mutation	SNP	A	TCGA-V1-A9OH-01A-11D-A41K-08	28926138	124920076	10614671	38	18950											
OR5D14	219436	broad.mit.edu	37	chr11	55563038	55563038	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cattaaaaggaattatgatgAtggttttaaggaatctgagc	15	13	10	3	0	1	3	0	3	1	0	1	5	1	5	0	3	1	1	0	3	6	4			TCGA-V1-A9OH-01A-11D-A41K-08	TCGA-V1-A9OH-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	447d759f-3770-49ac-8ff4-80ede8b435cd	ea11e1b5-ed5c-47f0-a320-9b8bffa66a4d	g.chr11:55563038A>T	ENST00000335605.1	+	1	7	c.7A>T	c.(7-9)Atg>Ttg	p.M3L		NM_001004735.1	NP_001004735.1	Q8NGL3	OR5DE_HUMAN	olfactory receptor, family 5, subfamily D, member 14	3						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(30)|ovary(2)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1)	48		all_epithelial(135;0.196)				AATTATGATGATGGTTTTAAG	0.383																																						ENST00000335605.1																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(30)|ovary(2)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1)	48						c.(7-9)Atg>Ttg		olfactory receptor, family 5, subfamily D, member 14							81	82	82					11																	55563038		2200	4296	6496	SO:0001583	missense	219436				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55563038A>T	AB065779	CCDS31508.1	11q11	2012-08-09			ENSG00000186113	ENSG00000186113		"GPCR / Class A : Olfactory receptors"	15281	protein-coding gene	gene with protein product							Standard	NM_001004735		Approved		uc010rim.2	Q8NGL3	OTTHUMG00000166809	ENST00000335605.1:c.7A>T	11.37:g.55563038A>T	ENSP00000334456:p.Met3Leu						p.M3L	NM_001004735.1	NP_001004735.1	Q8NGL3	OR5DE_HUMAN			1	7	+		all_epithelial(135;0.196)	3					Q6IF69|Q6IFD4|Q96RB5	Missense_Mutation	SNP	ENST00000335605.1	37	c.7A>T	CCDS31508.1	.	.	.	.	.	.	.	.	.	.	a	4.558	0.103566	0.08731	.	.	ENSG00000186113	ENST00000335605	T	0.03772	3.81	4.2	0.507	0.16967	.	0.549939	0.16654	N	0.205090	T	0.04137	0.0115	L	0.39566	1.225	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.36089	-0.9762	10	0.51188	T	0.08	-10.5846	4.8502	0.13533	0.6536:0.1658:0.1806:0.0	.	3	Q8NGL3	OR5DE_HUMAN	L	3	ENSP00000334456:M3L	ENSP00000334456:M3L	M	+	1	0	OR5D14	55319614	0.000000	0.05858	0.001000	0.08648	0.025000	0.11179	-0.274000	0.08537	-0.074000	0.12820	-0.408000	0.06270	ATG		0.383	OR5D14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391513.1	NM_001004735		4	98	0	0	0	1	0	4	98					T	55563038	A	T	55563038	3	4	386	1	0	0	0	0	1	0	0	0	11155	333	12	5	9	5	OR5D14	11	55563038	Missense_Mutation	SNP	A	TCGA-V1-A9OH-01A-11D-A41K-08		55563038	79443478	39	18951											
INTS5	80789	broad.mit.edu	37	chr11	62414553	62414553	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ggaaacggccagagaaaagaCctaggcggtcgatgttgcgg	12	5	16	8	4	0	2	0	0	0	2	1	5	0	3	2	5	2	1	2	5	4	2			TCGA-V1-A9OH-01A-11D-A41K-08	TCGA-V1-A9OH-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	447d759f-3770-49ac-8ff4-80ede8b435cd	ea11e1b5-ed5c-47f0-a320-9b8bffa66a4d	g.chr11:62414553C>G	ENST00000330574.2	-	2	3051	c.2999G>C	c.(2998-3000)gGt>gCt	p.G1000A	GANAB_ENST00000534779.1_5'Flank|GANAB_ENST00000356638.3_5'Flank|GANAB_ENST00000540933.1_5'Flank|GANAB_ENST00000346178.4_5'Flank	NM_030628.1	NP_085131.1	Q6P9B9	INT5_HUMAN	integrator complex subunit 5	1000					snRNA processing (GO:0016180)	integral component of membrane (GO:0016021)|integrator complex (GO:0032039)|membrane (GO:0016020)				breast(1)|endometrium(4)|large_intestine(6)|lung(20)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	36						AGAGAAAAGACCTAGGCGGTC	0.602																																						ENST00000330574.2																			0				breast(1)|endometrium(4)|large_intestine(6)|lung(20)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	36						c.(2998-3000)gGt>gCt		integrator complex subunit 5							99	84	89					11																	62414553		2202	4299	6501	SO:0001583	missense	80789				snRNA processing	integral to membrane|integrator complex	protein binding	g.chr11:62414553C>G	AK123587	CCDS8027.1	11q12.3	2006-04-26	2006-03-15	2006-03-15	ENSG00000185085	ENSG00000185085			29352	protein-coding gene	gene with protein product		611349	"KIAA1698"	KIAA1698		16239144	Standard	NM_030628		Approved	INT5	uc001nud.3	Q6P9B9	OTTHUMG00000167605	ENST00000330574.2:c.2999G>C	11.37:g.62414553C>G	ENSP00000327889:p.Gly1000Ala						p.G1000A	NM_030628.1	NP_085131.1	Q6P9B9	INT5_HUMAN			2	3051	-			1000					Q8N6W5|Q9C0G5	Missense_Mutation	SNP	ENST00000330574.2	37	c.2999G>C	CCDS8027.1	.	.	.	.	.	.	.	.	.	.	C	18.43	3.623190	0.66901	.	.	ENSG00000185085	ENST00000330574	.	.	.	5.96	5.05	0.67936	.	0.000000	0.85682	D	0.000000	T	0.76579	0.4007	M	0.67397	2.05	0.44719	D	0.997717	D	0.76494	0.999	D	0.85130	0.997	T	0.79230	-0.1889	9	0.87932	D	0	-12.1155	13.1348	0.59403	0.0:0.9227:0.0:0.0773	.	1000	Q6P9B9	INT5_HUMAN	A	1000	.	ENSP00000327889:G1000A	G	-	2	0	INTS5	62171129	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	7.041000	0.76558	1.527000	0.49086	-0.157000	0.13467	GGT		0.602	INTS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395327.1	NM_030628		9	52	0	0	0	1	0	9	52					G	62414553	C	G	62414553	3	3	386	1	0	0	0	0	1	0	0	0	7781	507	18	5	64	5	INTS5	11	62414553	Missense_Mutation	SNP	C	TCGA-V1-A9OH-01A-11D-A41K-08	6851515	62414553	72591963	40	18952											
HRASLS5	117245	broad.mit.edu	37	chr11	63257732	63257732	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacccttgctggatgcttctGccctgttctaatgtgcccgg	4	14	10	13	1	2	0	0	0	2	0	2	1	2	1	3	2	5	3	3	2	2	5			TCGA-V1-A9OH-01A-11D-A41K-08	TCGA-V1-A9OH-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	447d759f-3770-49ac-8ff4-80ede8b435cd	ea11e1b5-ed5c-47f0-a320-9b8bffa66a4d	g.chr11:63257732G>T	ENST00000301790.4	-	2	411	c.252C>A	c.(250-252)ggC>ggA	p.G84G	HRASLS5_ENST00000539221.1_Silent_p.G84G|HRASLS5_ENST00000540857.1_Silent_p.G74G			Q96KN8	HRSL5_HUMAN	HRAS-like suppressor family, member 5	84							transferase activity, transferring acyl groups (GO:0016746)			endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|urinary_tract(1)	14						GGATGCTTCTGCCCTGTTCTA	0.483																																						ENST00000540857.1																			0				endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|urinary_tract(1)	14						c.(220-222)ggC>ggA		HRAS-like suppressor family, member 5							196	222	213					11																	63257732		2201	4298	6499	SO:0001819	synonymous_variant	117245							g.chr11:63257732G>T	AJ416558	CCDS8044.1, CCDS53646.1, CCDS53647.1	11q13.2	2006-08-16			ENSG00000168004	ENSG00000168004			24978	protein-coding gene	gene with protein product		611474					Standard	NM_001146729		Approved	HRLP5	uc001nwy.2	Q96KN8	OTTHUMG00000167806	ENST00000301790.4:c.252C>A	11.37:g.63257732G>T						HRASLS5_ENST00000539221.1_Silent_p.G84G|HRASLS5_ENST00000301790.4_Silent_p.G84G	p.G74G	NM_001146728.1|NM_001146729.1|NM_054108.3	NP_001140200.1|NP_001140201.1|NP_473449.1	Q96KN8	HRSL5_HUMAN			2	354	-			84					B7X6T1|F5GZ87|F5H4Y9	Silent	SNP	ENST00000301790.4	37	c.222C>A	CCDS8044.1																																																																																				0.483	HRASLS5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396375.1	NM_054108		5	306	1	0	5.9392e-07	1	6.61797e-07	5	306					T	63257732	G	T	63257732	2	4	386	1	0	0	0	0	0	0	0	1	7351	1306	46	5		5	HRASLS5	11	63257732	Silent	SNP	G	TCGA-V1-A9OH-01A-11D-A41K-08	843179	63257732	71748784	41	18953											
SHANK2	22941	broad.mit.edu	37	chr11	70333013	70333013	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	ctcgtcagcaaaatccccctCctcggggaacatggagggcc	9	6	11	15	2	1	0	1	0	0	0	5	2	3	2	4	4	2	1	4	4	3	0			TCGA-V1-A9OH-01A-11D-A41K-08	TCGA-V1-A9OH-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	447d759f-3770-49ac-8ff4-80ede8b435cd	ea11e1b5-ed5c-47f0-a320-9b8bffa66a4d	g.chr11:70333013C>G	ENST00000423696.2	-	15	2284	c.2248G>C	c.(2248-2250)Gag>Cag	p.E750Q	SHANK2_ENST00000449833.2_Missense_Mutation_p.E534Q|SHANK2_ENST00000409161.1_Missense_Mutation_p.E533Q|SHANK2_ENST00000338508.4_Missense_Mutation_p.E1130Q			Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2	750					adult behavior (GO:0030534)|learning (GO:0007612)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|vocalization behavior (GO:0071625)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|cell junction (GO:0030054)|ciliary membrane (GO:0060170)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|growth cone (GO:0030426)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	GKAP/Homer scaffold activity (GO:0030160)|ionotropic glutamate receptor binding (GO:0035255)			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			AAATCCCCCTCCTCGGGGAAC	0.677																																						ENST00000338508.4																			0				NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62						c.(3388-3390)Gag>Cag		SH3 and multiple ankyrin repeat domains 2							23	28	26					11																	70333013		2199	4287	6486	SO:0001583	missense	22941				intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding	g.chr11:70333013C>G	AF141901		11q13.2	2013-01-10			ENSG00000162105	ENSG00000162105		"Sterile alpha motif (SAM) domain containing", "Ankyrin repeat domain containing"	14295	protein-coding gene	gene with protein product		603290	"cortactin binding protein 1"	CORTBP1		10506216	Standard	XM_005277930		Approved	CTTNBP1, ProSAP1, SHANK, SPANK-3	uc001oqc.3	Q9UPX8	OTTHUMG00000154615	ENST00000423696.2:c.2248G>C	11.37:g.70333013C>G	ENSP00000394536:p.Glu750Gln					SHANK2_ENST00000449833.2_Missense_Mutation_p.E534Q|SHANK2_ENST00000423696.2_Missense_Mutation_p.E750Q|SHANK2_ENST00000409161.1_Missense_Mutation_p.E533Q	p.E1130Q			Q9UPX8	SHAN2_HUMAN	LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)		32	3387	-			750					C0SPG8|C0SPG9|Q3Y8G9|Q52LK2|Q9UKP1	Missense_Mutation	SNP	ENST00000423696.2	37	c.3388G>C		.	.	.	.	.	.	.	.	.	.	C	16.73	3.203135	0.58234	.	.	ENSG00000162105	ENST00000449833;ENST00000409161;ENST00000424924;ENST00000338508;ENST00000423696;ENST00000433693;ENST00000294018	T;T;T;T;T;T	0.50813	0.73;0.73;0.73;0.73;0.73;0.73	5.05	5.05	0.67936	.	0.260668	0.43747	D	0.000540	T	0.71195	0.3311	M	0.82716	2.605	0.80722	D	1	D;P;D	0.65815	0.992;0.954;0.995	P;P;D	0.66497	0.881;0.765;0.944	T	0.76881	-0.2795	10	0.87932	D	0	.	18.4016	0.90518	0.0:1.0:0.0:0.0	.	750;1129;534	Q9UPX8;Q9UPX8-3;Q9UPX8-4	SHAN2_HUMAN;.;.	Q	534;533;408;1130;750;768;753	ENSP00000399423:E534Q;ENSP00000386491:E533Q;ENSP00000402944:E408Q;ENSP00000345193:E1130Q;ENSP00000394536:E750Q;ENSP00000294018:E753Q	ENSP00000294018:E753Q	E	-	1	0	SHANK2	70010661	1.000000	0.71417	1.000000	0.80357	0.543000	0.35085	7.063000	0.76714	2.345000	0.79718	0.561000	0.74099	GAG		0.677	SHANK2-203	KNOWN	basic	protein_coding	protein_coding		NM_012309		4	48	0	0	0	1	0	4	48					G	70333013	C	G	70333013	3	3	386	1	0	0	0	0	1	0	0	0	14265	864	30	5	2172	5	SHANK2	11	70333013	Missense_Mutation	SNP	C	TCGA-V1-A9OH-01A-11D-A41K-08	7075281	70333013	64673503	42	18954											
CWF19L2	143884	broad.mit.edu	37	chr11	107200696	107200696	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cttcaatgacatgggcaaacCctccgtgaaggccaaaatcc	13	7	8	13	1	1	2	1	2	0	0	3	2	3	2	4	2	1	1	4	2	5	1			TCGA-V1-A9OH-01A-11D-A41K-08	TCGA-V1-A9OH-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	447d759f-3770-49ac-8ff4-80ede8b435cd	ea11e1b5-ed5c-47f0-a320-9b8bffa66a4d	g.chr11:107200696C>T	ENST00000282251.5	-	17	2516	c.2489G>A	c.(2488-2490)gGg>gAg	p.G830E		NM_152434.2	NP_689647.2	Q2TBE0	C19L2_HUMAN	CWF19-like 2, cell cycle control (S. pombe)	830							catalytic activity (GO:0003824)			endometrium(4)|kidney(2)|large_intestine(13)|lung(21)	40		Melanoma(852;1.75e-05)|all_epithelial(67;6.27e-05)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0258)		Epithelial(105;7.18e-06)|BRCA - Breast invasive adenocarcinoma(274;1.65e-05)|all cancers(92;1.76e-05)		ATGGGCAAACCCTCCGTGAAG	0.388																																						ENST00000282251.5																			0				endometrium(4)|kidney(2)|large_intestine(13)|lung(21)	40						c.(2488-2490)gGg>gAg		CWF19-like 2, cell cycle control (S. pombe)							70	66	67					11																	107200696		2201	4297	6498	SO:0001583	missense	143884						catalytic activity	g.chr11:107200696C>T	AK056905	CCDS8336.2	11q23.1	2005-09-22			ENSG00000152404	ENSG00000152404			26508	protein-coding gene	gene with protein product						14702039	Standard	NM_152434		Approved	FLJ32343	uc010rvp.2	Q2TBE0	OTTHUMG00000152975	ENST00000282251.5:c.2489G>A	11.37:g.107200696C>T	ENSP00000282251:p.Gly830Glu						p.G830E	NM_152434.2	NP_689647.2	Q2TBE0	C19L2_HUMAN		Epithelial(105;7.18e-06)|BRCA - Breast invasive adenocarcinoma(274;1.65e-05)|all cancers(92;1.76e-05)	17	2516	-		Melanoma(852;1.75e-05)|all_epithelial(67;6.27e-05)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0258)	830					A4FU66|A4FU67|A4FU68|Q6PHW1|Q96MI1	Missense_Mutation	SNP	ENST00000282251.5	37	c.2489G>A	CCDS8336.2	.	.	.	.	.	.	.	.	.	.	C	30	5.052378	0.93793	.	.	ENSG00000152404	ENST00000282251;ENST00000409771	T	0.34472	1.36	5.75	5.75	0.90469	Cwf19-like protein, C-terminal domain-2 (1);	0.000000	0.85682	D	0.000000	T	0.72350	0.3449	H	0.94542	3.55	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.79916	-0.1601	10	0.72032	D	0.01	-17.1159	18.948	0.92628	0.0:1.0:0.0:0.0	.	830	Q2TBE0	C19L2_HUMAN	E	830;88	ENSP00000282251:G830E	ENSP00000282251:G830E	G	-	2	0	CWF19L2	106705906	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.815000	0.86186	2.716000	0.92895	0.655000	0.94253	GGG		0.388	CWF19L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328825.2	NM_152434		3	6	0	0	0	1	0	3	6					T	107200696	C	T	107200696	3	4	386	1	0	0	0	0	1	0	0	0	4072	623	22	3	203	3	CWF19L2	11	107200696	Missense_Mutation	SNP	C	TCGA-V1-A9OH-01A-11D-A41K-08	36867683	107200696	27805820	43	18955											
APOBEC1	339	broad.mit.edu	37	chr12	7805211	7805211	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcccagcagggactccaggAcaagaaccaggtgatggagc	12	5	13	11	0	0	2	0	1	0	1	2	5	2	5	3	4	3	1	3	4	2	1			TCGA-V1-A9OH-01A-11D-A41K-08	TCGA-V1-A9OH-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	447d759f-3770-49ac-8ff4-80ede8b435cd	ea11e1b5-ed5c-47f0-a320-9b8bffa66a4d	g.chr12:7805211A>G	ENST00000229304.4	-	3	285	c.265T>C	c.(265-267)Tcc>Ccc	p.S89P		NM_001644.3	NP_001635.2	P41238	ABEC1_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide 1	89					cellular response to insulin stimulus (GO:0032869)|cytidine deamination (GO:0009972)|cytidine to uridine editing (GO:0016554)|defense response to virus (GO:0051607)|DNA demethylation (GO:0080111)|gene expression (GO:0010467)|lipid metabolic process (GO:0006629)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein transport (GO:0042953)|mRNA modification (GO:0016556)|mRNA processing (GO:0006397)|mRNA stabilization (GO:0048255)|negative regulation of methylation-dependent chromatin silencing (GO:0090310)|regulation of cell proliferation (GO:0042127)|response to calcium ion (GO:0051592)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to gamma radiation (GO:0010332)|response to osmotic stress (GO:0006970)|response to zinc ion (GO:0010043)|RNA processing (GO:0006396)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	AU-rich element binding (GO:0017091)|cytidine deaminase activity (GO:0004126)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			kidney(2)|large_intestine(2)|lung(10)|prostate(1)|skin(1)|stomach(1)	17						GGACTCCAGGACAAGAACCAG	0.458																																					Pancreas(135;929 1826 4531 10527 41012)	ENST00000229304.4																			0				kidney(2)|large_intestine(2)|lung(10)|prostate(1)|skin(1)|stomach(1)	17						c.(265-267)Tcc>Ccc		apolipoprotein B mRNA editing enzyme, catalytic polypeptide 1							48	48	48					12																	7805211		2203	4300	6503	SO:0001583	missense	339				cytidine to uridine editing|DNA demethylation|lipid metabolic process|mRNA modification|mRNA processing|negative regulation of methylation-dependent chromatin silencing	nucleoplasm	cytidine deaminase activity|RNA binding|zinc ion binding	g.chr12:7805211A>G	U72891	CCDS8579.1	12p13.1	2007-02-01			ENSG00000111701	ENSG00000111701		"Apolipoprotein B mRNA editing enzymes"	604	protein-coding gene	gene with protein product		600130					Standard	XM_005253355		Approved	BEDP, CDAR1, APOBEC-1, HEPR	uc001qtb.3	P41238	OTTHUMG00000141288	ENST00000229304.4:c.265T>C	12.37:g.7805211A>G	ENSP00000229304:p.Ser89Pro						p.S89P	NM_001644.3	NP_001635.2	P41238	ABEC1_HUMAN			3	285	-			89					Q9UE64|Q9UM71	Missense_Mutation	SNP	ENST00000229304.4	37	c.265T>C	CCDS8579.1	.	.	.	.	.	.	.	.	.	.	A	19.13	3.766920	0.69878	.	.	ENSG00000111701	ENST00000229304	T	0.69806	-0.43	3.95	3.95	0.45737	APOBEC-like, N-terminal (1);APOBEC/CMP deaminase, zinc-binding (1);	0.000000	0.56097	D	0.000040	T	0.79845	0.4516	M	0.92026	3.265	0.32719	N	0.510619	D	0.52996	0.957	P	0.55785	0.784	D	0.86308	0.1684	10	0.87932	D	0	-31.1576	9.4165	0.38525	1.0:0.0:0.0:0.0	.	89	P41238	ABEC1_HUMAN	P	89	ENSP00000229304:S89P	ENSP00000229304:S89P	S	-	1	0	APOBEC1	7696478	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	2.796000	0.47869	1.805000	0.52779	0.379000	0.24179	TCC		0.458	APOBEC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280523.1	NM_001644		5	27	0	0	0	1	0	5	27					G	7805211	A	G	7805211	3	3	386	1	0	0	0	0	1	0	0	0	787	275	10	4	457	4	APOBEC1	12	7805211	Missense_Mutation	SNP	A	TCGA-V1-A9OH-01A-11D-A41K-08		7805211	126046684	44	18956											
ABCD2	225	broad.mit.edu	37	chr12	40012694	40012694	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggatgtagcagtttgaatgaGtgtataggaggtcagcatta	12	12	14	3	0	1	2	1	2	0	0	1	4	1	4	0	3	2	5	0	3	5	5			TCGA-V1-A9OH-01A-11D-A41K-08	TCGA-V1-A9OH-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	447d759f-3770-49ac-8ff4-80ede8b435cd	ea11e1b5-ed5c-47f0-a320-9b8bffa66a4d	g.chr12:40012694G>T	ENST00000308666.3	-	1	859	c.724C>A	c.(724-726)Ctc>Atc	p.L242I		NM_005164.3	NP_005155.1	Q9UBJ2	ABCD2_HUMAN	ATP-binding cassette, sub-family D (ALD), member 2	242	ABC transmembrane type-1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				fatty acid beta-oxidation (GO:0006635)|positive regulation of fatty acid beta-oxidation (GO:0032000)|transmembrane transport (GO:0055085)|very long-chain fatty acid catabolic process (GO:0042760)|very long-chain fatty acid metabolic process (GO:0000038)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(24)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	52						GTTTGAATGAGTGTATAGGAG	0.443																																						ENST00000308666.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(24)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	52						c.(724-726)Ctc>Atc		ATP-binding cassette, sub-family D (ALD), member 2							126	123	124					12																	40012694		2203	4300	6503	SO:0001583	missense	225				fatty acid metabolic process|transport	ATP-binding cassette (ABC) transporter complex|integral to plasma membrane|peroxisomal membrane	ATP binding|ATPase activity|protein binding	g.chr12:40012694G>T	U28150	CCDS8734.1	12q12	2012-05-16			ENSG00000173208	ENSG00000173208		"ATP binding cassette transporters / subfamily D"	66	protein-coding gene	gene with protein product		601081		ALDL1		8577752	Standard	NM_005164		Approved	ALDR, ALDRP	uc001rmb.2	Q9UBJ2	OTTHUMG00000169337	ENST00000308666.3:c.724C>A	12.37:g.40012694G>T	ENSP00000310688:p.Leu242Ile						p.L242I	NM_005164.3	NP_005155.1	Q9UBJ2	ABCD2_HUMAN			1	859	-			242			ABC transmembrane type-1.		B2RAM3|Q13210|Q2M3H9	Missense_Mutation	SNP	ENST00000308666.3	37	c.724C>A	CCDS8734.1	.	.	.	.	.	.	.	.	.	.	G	18.54	3.645664	0.67358	.	.	ENSG00000173208	ENST00000308666	D	0.99859	-7.23	4.96	4.96	0.65561	ABC transporter, N-terminal (1);ABC transporter, integral membrane type 1 (1);	0.000000	0.85682	D	0.000000	D	0.99883	0.9944	H	0.94183	3.505	0.53005	D	0.999969	D	0.89917	1.0	D	0.83275	0.996	D	0.96516	0.9382	9	.	.	.	-0.7966	11.6865	0.51490	0.0814:0.0:0.9186:0.0	.	242	Q9UBJ2	ABCD2_HUMAN	I	242	ENSP00000310688:L242I	.	L	-	1	0	ABCD2	38298961	1.000000	0.71417	0.939000	0.37840	0.985000	0.73830	6.243000	0.72384	2.280000	0.76307	0.557000	0.71058	CTC		0.443	ABCD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403591.1	NM_005164		17	65	1	0	4.14922e-12	1	4.7594e-12	17	65					T	40012694	G	T	40012694	3	4	386	1	0	0	0	0	1	0	0	0	61	1029	36	5	1538	5	ABCD2	12	40012694	Missense_Mutation	SNP	G	TCGA-V1-A9OH-01A-11D-A41K-08	32207483	40012694	93839201	45	18957											
KRT75	9119	broad.mit.edu	37	chr12	52827742	52827742	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttggatgcctccagggggaCacacggggaagctggggcca	8	5	17	11	1	0	0	0	0	0	0	1	3	1	3	3	7	2	1	3	7	1	1			TCGA-V1-A9OH-01A-11D-A41K-08	TCGA-V1-A9OH-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	447d759f-3770-49ac-8ff4-80ede8b435cd	ea11e1b5-ed5c-47f0-a320-9b8bffa66a4d	g.chr12:52827742C>A	ENST00000252245.5	-	1	567	c.347G>T	c.(346-348)tGt>tTt	p.C116F		NM_004693.2	NP_004684.2	O95678	K2C75_HUMAN	keratin 75	116	Gly-rich.|Head.				hematopoietic progenitor cell differentiation (GO:0002244)	extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(10)|prostate(1)|skin(1)	28				BRCA - Breast invasive adenocarcinoma(357;0.192)		TCCAGGGGGACACACGGGGAA	0.612																																						ENST00000252245.5																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(10)|prostate(1)|skin(1)	28						c.(346-348)tGt>tTt		keratin 75							116	119	118					12																	52827742		2203	4300	6503	SO:0001583	missense	9119					keratin filament	structural molecule activity	g.chr12:52827742C>A	Y19212	CCDS8827.1	12q13.13	2013-06-25			ENSG00000170454	ENSG00000170454		"-", "Intermediate filaments type II, keratins (basic)"	24431	protein-coding gene	gene with protein product		609025				9856802, 10692104, 16831889	Standard	NM_004693		Approved	K6HF	uc001saj.2	O95678	OTTHUMG00000169592	ENST00000252245.5:c.347G>T	12.37:g.52827742C>A	ENSP00000252245:p.Cys116Phe						p.C116F	NM_004693.2	NP_004684.2	O95678	K2C75_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.192)	1	567	-			116			Gly-rich.|Head.		B4DQU4|Q9NSA9	Missense_Mutation	SNP	ENST00000252245.5	37	c.347G>T	CCDS8827.1	.	.	.	.	.	.	.	.	.	.	C	4.110	0.018623	0.07959	.	.	ENSG00000170454	ENST00000252245	T	0.75050	-0.9	5.55	2.7	0.31948	.	0.216427	0.32548	N	0.005952	T	0.69744	0.3145	M	0.69248	2.105	0.09310	N	1	P	0.42483	0.781	B	0.43155	0.41	T	0.63292	-0.6670	10	0.59425	D	0.04	.	4.6034	0.12364	0.1261:0.6125:0.1221:0.1393	.	116	O95678	K2C75_HUMAN	F	116	ENSP00000252245:C116F	ENSP00000252245:C116F	C	-	2	0	KRT75	51114009	0.000000	0.05858	0.001000	0.08648	0.095000	0.18619	-0.222000	0.09190	0.285000	0.22329	0.655000	0.94253	TGT		0.612	KRT75-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404968.1	NM_004693		8	49	1	0	0.00448238	1	0.00466168	8	49					A	52827742	C	A	52827742	3	1	386	1	0	0	0	0	1	0	0	0	8488	478	17	5	1344	5	KRT75	12	52827742	Missense_Mutation	SNP	C	TCGA-V1-A9OH-01A-11D-A41K-08	12815048	52827742	81024153	46	18958											
RARG	5916	broad.mit.edu	37	chr12	53608330	53608330	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	actgagggctcagctcatagCtgtcaggtgacccttcttcc	7	11	10	13	0	4	2	3	2	1	0	5	2	5	2	2	2	2	3	2	2	1	3			TCGA-V1-A9OH-01A-11D-A41K-08	TCGA-V1-A9OH-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	447d759f-3770-49ac-8ff4-80ede8b435cd	ea11e1b5-ed5c-47f0-a320-9b8bffa66a4d	g.chr12:53608330C>T	ENST00000425354.2	-	6	1023	c.536G>A	c.(535-537)aGc>aAc	p.S179N	RARG_ENST00000543762.1_5'UTR|RARG_ENST00000543726.1_Missense_Mutation_p.S157N|RARG_ENST00000327550.3_Missense_Mutation_p.S107N|RARG_ENST00000394426.1_Missense_Mutation_p.S179N|RARG_ENST00000338561.5_Missense_Mutation_p.S168N	NM_000966.5	NP_000957.1	P13631	RARG_HUMAN	retinoic acid receptor, gamma	179	Hinge.				anterior/posterior pattern specification (GO:0009952)|canonical Wnt signaling pathway (GO:0060070)|cellular response to retinoic acid (GO:0071300)|embryonic camera-type eye development (GO:0031076)|embryonic eye morphogenesis (GO:0048048)|embryonic hindlimb morphogenesis (GO:0035116)|face development (GO:0060324)|gene expression (GO:0010467)|glandular epithelial cell development (GO:0002068)|growth plate cartilage chondrocyte growth (GO:0003430)|Harderian gland development (GO:0070384)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cartilage development (GO:0061037)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell proliferation (GO:0008284)|positive regulation of programmed cell death (GO:0043068)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prostate gland epithelium morphogenesis (GO:0060740)|regulation of cell size (GO:0008361)|regulation of myelination (GO:0031641)|response to retinoic acid (GO:0032526)|retinal pigment epithelium development (GO:0003406)|retinoic acid receptor signaling pathway (GO:0048384)|trachea cartilage development (GO:0060534)|transcription initiation from RNA polymerase II promoter (GO:0006367)	integral component of membrane (GO:0016021)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|retinoic acid receptor activity (GO:0003708)|retinoid X receptor binding (GO:0046965)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			breast(3)|endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20					Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Tazarotene(DB00799)|Tretinoin(DB00755)	CAGCTCATAGCTGTCAGGTGA	0.552																																						ENST00000425354.2																			0				breast(3)|endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						c.(535-537)aGc>aAc		retinoic acid receptor, gamma	Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tazarotene(DB00799)|Tretinoin(DB00755)						183	161	169					12																	53608330		2203	4300	6503	SO:0001583	missense	5916				canonical Wnt receptor signaling pathway|embryonic eye morphogenesis|embryonic hindlimb morphogenesis|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter|regulation of cell size|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to retinoic acid	integral to membrane|transcription factor complex	retinoic acid receptor activity|retinoid X receptor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	g.chr12:53608330C>T	M57707	CCDS8850.1, CCDS41790.1, CCDS58236.1, CCDS58237.1	12q13	2013-01-16			ENSG00000172819	ENSG00000172819		"Nuclear hormone receptors"	9866	protein-coding gene	gene with protein product		180190				1849262	Standard	NM_001042728		Approved	RARC, NR1B3	uc001scf.3	P13631	OTTHUMG00000048077	ENST00000425354.2:c.536G>A	12.37:g.53608330C>T	ENSP00000388510:p.Ser179Asn					RARG_ENST00000338561.5_Missense_Mutation_p.S168N|RARG_ENST00000543762.1_5'UTR|RARG_ENST00000543726.1_Missense_Mutation_p.S157N|RARG_ENST00000394426.1_Missense_Mutation_p.S179N|RARG_ENST00000327550.3_Missense_Mutation_p.S107N	p.S179N	NM_000966.5	NP_000957.1	P13631	RARG_HUMAN			6	1023	-			179			Hinge.		B7Z492|B7Z4F1|B7ZAE4|J3KNP6|P22932|Q15281|Q52LZ8|Q9BYX8|Q9H1I3|Q9UJ38	Missense_Mutation	SNP	ENST00000425354.2	37	c.536G>A	CCDS8850.1	.	.	.	.	.	.	.	.	.	.	C	14.95	2.688900	0.48097	.	.	ENSG00000172819	ENST00000425354;ENST00000394426;ENST00000327550;ENST00000338561;ENST00000543726;ENST00000550265	T;T;T;T;T	0.37058	1.22;1.22;1.22;1.22;1.22	4.97	4.07	0.47477	Nuclear hormone receptor, ligand-binding (2);	0.039807	0.85682	N	0.000000	T	0.33411	0.0862	L	0.50333	1.59	0.58432	D	0.999999	B;B;B;B	0.26400	0.148;0.001;0.016;0.01	B;B;B;B	0.25614	0.062;0.004;0.006;0.013	T	0.16541	-1.0399	10	0.46703	T	0.11	.	13.0774	0.59095	0.0:0.9196:0.0:0.0804	.	216;157;179;168	F8VR45;B7Z4F1;P13631;F1D8P1	.;.;RARG_HUMAN;.	N	179;179;107;168;157;216	ENSP00000388510:S179N;ENSP00000377947:S179N;ENSP00000332695:S107N;ENSP00000343698:S168N;ENSP00000444335:S157N	ENSP00000332695:S107N	S	-	2	0	RARG	51894597	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.533000	0.45667	1.440000	0.47531	0.655000	0.94253	AGC		0.552	RARG-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000109404.2	NM_000966		3	37	0	0	0	1	0	3	37					T	53608330	C	T	53608330	3	4	386	1	0	0	0	0	1	0	0	0	13054	797	28	3	848	3	RARG	12	53608330	Missense_Mutation	SNP	C	TCGA-V1-A9OH-01A-11D-A41K-08	780588	53608330	80243565	47	18959											
B4GALNT1	2583	broad.mit.edu	37	chr12	58020596	58020596	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtttggccatctggctctcGtccagtgatcctgggtaacg	5	13	12	11	2	2	1	0	1	2	0	5	1	4	1	3	3	1	3	3	3	1	2	rs368931577		TCGA-V1-A9OH-01A-11D-A41K-08	TCGA-V1-A9OH-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	447d759f-3770-49ac-8ff4-80ede8b435cd	ea11e1b5-ed5c-47f0-a320-9b8bffa66a4d	g.chr12:58020596G>A	ENST00000341156.4	-	11	2117	c.1533C>T	c.(1531-1533)gaC>gaT	p.D511D	B4GALNT1_ENST00000418555.2_Silent_p.D456D	NM_001478.3	NP_001469.1	Q00973	B4GN1_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 1	511					carbohydrate metabolic process (GO:0005975)|cell death (GO:0008219)|ganglioside biosynthetic process (GO:0001574)|glycosphingolipid metabolic process (GO:0006687)|lipid glycosylation (GO:0030259)|lipid storage (GO:0019915)|protein glycosylation (GO:0006486)|spermatogenesis (GO:0007283)	integral component of Golgi membrane (GO:0030173)|membrane (GO:0016020)|plasma membrane (GO:0005886)	(N-acetylneuraminyl)-galactosylglucosylceramide N-acetylgalactosaminyltransferase activity (GO:0003947)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|urinary_tract(1)	20	Melanoma(17;0.122)		BRCA - Breast invasive adenocarcinoma(9;0.109)			TCTGGCTCTCGTCCAGTGATC	0.577																																						ENST00000341156.4																			0				breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|urinary_tract(1)	20						c.(1531-1533)gaC>gaT		beta-1,4-N-acetyl-galactosaminyl transferase 1							180	144	156					12																	58020596		2203	4300	6503	SO:0001819	synonymous_variant	2583				lipid glycosylation	integral to Golgi membrane|membrane fraction	(N-acetylneuraminyl)-galactosylglucosylceramide N-acetylgalactosaminyltransferase activity	g.chr12:58020596G>A	M83651	CCDS8950.1, CCDS61170.1, CCDS61171.1	12q13.3	2013-09-11	2006-01-08	2006-01-08	ENSG00000135454	ENSG00000135454	2.4.1.92	"Beta 4-glycosyltransferases", "Glycosyltransferase family 2 domain containing"	4117	protein-coding gene	gene with protein product	"GD2 synthase, GM2 synthase"	601873	"UDP-N-acetyl-alpha-D-galactosamine:(N-acetylneuraminyl)-galactosylglucosylceramide N-acetylgalactosaminyltransferase (GalNAc-T)", "UDP-Gal:betaGlcNAc beta-1,4-N-acetylgalactosaminyltransferase transferase 1", "spastic paraplegia 26"	GALGT, SPG26		1601877, 23746551	Standard	NM_001478		Approved	beta1-4GalNAc-T	uc001spg.2	Q00973	OTTHUMG00000170190	ENST00000341156.4:c.1533C>T	12.37:g.58020596G>A						B4GALNT1_ENST00000418555.2_Silent_p.D456D	p.D511D	NM_001478.3	NP_001469.1	Q00973	B4GN1_HUMAN	BRCA - Breast invasive adenocarcinoma(9;0.109)		11	2117	-	Melanoma(17;0.122)		511					B4DE26|Q8N636	Silent	SNP	ENST00000341156.4	37	c.1533C>T	CCDS8950.1																																																																																				0.577	B4GALNT1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407853.1	NM_001478		23	77	0	0	0	1	0	23	77					A	58020596	G	A	58020596	2	1	386	1	0	0	0	0	0	0	0	1	1266	1136	40	1		1	B4GALNT1	12	58020596	Silent	SNP	G	TCGA-V1-A9OH-01A-11D-A41K-08	4412266	58020596	75831299	48	18960											
BRCA2	675	broad.mit.edu	37	chr13	32903584	32903584	+	Frame_Shift_Del	DEL	A	A	-																															aatttttatcttacagtcagAaatgaagaagcatctgaaac																										TCGA-V1-A9OH-01A-11D-A41K-08	TCGA-V1-A9OH-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	447d759f-3770-49ac-8ff4-80ede8b435cd	ea11e1b5-ed5c-47f0-a320-9b8bffa66a4d	g.chr13:32903584delA	ENST00000380152.3	+	8	869	c.636delA	c.(634-636)agafs	p.R212fs	BRCA2_ENST00000544455.1_Frame_Shift_Del_p.R212fs			P51587	BRCA2_HUMAN	breast cancer 2, early onset	212					brain development (GO:0007420)|cell aging (GO:0007569)|centrosome duplication (GO:0051298)|cytokinesis (GO:0000910)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|female gonad development (GO:0008585)|hemopoiesis (GO:0030097)|histone H3 acetylation (GO:0043966)|histone H4 acetylation (GO:0043967)|inner cell mass cell proliferation (GO:0001833)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|male meiosis I (GO:0007141)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|nucleotide-excision repair (GO:0006289)|oocyte maturation (GO:0001556)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cytokinesis (GO:0032465)|replication fork protection (GO:0048478)|response to gamma radiation (GO:0010332)|response to UV-C (GO:0010225)|response to X-ray (GO:0010165)|spermatogenesis (GO:0007283)	BRCA2-MAGE-D1 complex (GO:0033593)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)|secretory granule (GO:0030141)	gamma-tubulin binding (GO:0043015)|H3 histone acetyltransferase activity (GO:0010484)|H4 histone acetyltransferase activity (GO:0010485)|protease binding (GO:0002020)|single-stranded DNA binding (GO:0003697)			NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		TTACAGTCAGAAATGAAGAAG	0.284			"D, Mis, N, F, S"		"breast, ovarian, pancreatic"	"breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)																											Esophageal Squamous(138;838 1285 7957 30353 30468 36915 49332)	ENST00000544455.1			yes	Rec	yes	Hereditary breast/ovarian cancer	13	13q12	675	"D, Mis, N, F, S"	familial breast/ovarian cancer gene 2			"L, E"		"breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"	"breast, ovarian, pancreatic"		0				NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183						c.(634-636)agfs	Homologous recombination	breast cancer 2, early onset							54	54	54					13																	32903584		2197	4282	6479	SO:0001589	frameshift_variant	675	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	Familial Cancer Database	incl.: Hereditary Pancreatic Adenocarcinoma, Insulin-Dependent Diabetes Mellitus - Exocrine Insufficiency - Familial Pancreatic Cancer, PNCA1;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;HPC; ;FANCD1;Pancytopenia Dysmelia, FA (several complementation groups)	cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding	g.chr13:32903584delA	U43746	CCDS9344.1	13q12-q13	2014-09-17	2003-10-14		ENSG00000139618	ENSG00000139618		"Fanconi anemia, complementation groups"	1101	protein-coding gene	gene with protein product	"BRCA1/BRCA2-containing complex, subunit 2"	600185	"Fanconi anemia, complementation group D1"	FANCD1, FACD, FANCD		8091231, 7581463, 15057823	Standard	NM_000059		Approved	FAD, FAD1, BRCC2	uc001uub.1	P51587	OTTHUMG00000017411	ENST00000380152.3:c.636delA	13.37:g.32903584delA	ENSP00000369497:p.Arg212fs	TCGA Ovarian(8;0.087)				BRCA2_ENST00000380152.3_Frame_Shift_Del_p.R212fs	p.R212fs	NM_000059.3	NP_000050.2	P51587	BRCA2_HUMAN		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)	8	863	+		Lung SC(185;0.0262)	212					O00183|O15008|Q13879|Q5TBJ7	Frame_Shift_Del	DEL	ENST00000380152.3	37	c.636delA	CCDS9344.1																																																																																				0.284	BRCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046000.2	NM_000059		12	40						12	40	---	---	---	---	-	32903584	A	-	32903584	7	5	386	1	0	1	0	1	0	0	0	0	1499	243	9	0	662	0	BRCA2	13	32903584	Frame_Shift_Del	DEL	A	TCGA-V1-A9OH-01A-11D-A41K-08		32903584	82266294	49	18961											
CTSG	1511	broad.mit.edu	37	chr14	25043530	25043530	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggaaccgaagatgcggaggCactgcctatccctctgcact	10	7	11	13	2	1	1	0	0	1	1	2	4	2	3	3	3	4	2	3	3	3	1			TCGA-V1-A9OH-01A-11D-A41K-08	TCGA-V1-A9OH-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	447d759f-3770-49ac-8ff4-80ede8b435cd	ea11e1b5-ed5c-47f0-a320-9b8bffa66a4d	g.chr14:25043530C>T	ENST00000216336.2	-	4	551	c.515G>A	c.(514-516)tGc>tAc	p.C172Y		NM_001911.2	NP_001902.1	P08311	CATG_HUMAN	cathepsin G	172	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				angiotensin maturation (GO:0002003)|cellular protein metabolic process (GO:0044267)|defense response to fungus (GO:0050832)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|immune response (GO:0006955)|negative regulation of growth of symbiont in host (GO:0044130)|neutrophil mediated killing of gram-positive bacterium (GO:0070946)|positive regulation of immune response (GO:0050778)|proteolysis (GO:0006508)|response to lipopolysaccharide (GO:0032496)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)	heparin binding (GO:0008201)|peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)			autonomic_ganglia(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(1)|urinary_tract(1)	25				GBM - Glioblastoma multiforme(265;0.0269)		GATGCGGAGGCACTGCCTATC	0.627																																						ENST00000216336.2																			0				autonomic_ganglia(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(1)|urinary_tract(1)	25						c.(514-516)tGc>tAc		cathepsin G							121	99	106					14																	25043530		2203	4300	6503	SO:0001583	missense	1511				immune response|proteolysis	cell surface|extracellular space|plasma membrane|stored secretory granule	heparin binding|serine-type endopeptidase activity	g.chr14:25043530C>T	M16117	CCDS9631.1	14q12	2013-02-25			ENSG00000100448	ENSG00000100448		"Cathepsins", "Endogenous ligands"	2532	protein-coding gene	gene with protein product		116830				2569462	Standard	NM_001911		Approved	CG	uc001wpq.3	P08311	OTTHUMG00000140182	ENST00000216336.2:c.515G>A	14.37:g.25043530C>T	ENSP00000216336:p.Cys172Tyr						p.C172Y	NM_001911.2	NP_001902.1	P08311	CATG_HUMAN		GBM - Glioblastoma multiforme(265;0.0269)	4	551	-			172			Peptidase S1.		Q6IBJ6|Q9UCA5|Q9UCU6	Missense_Mutation	SNP	ENST00000216336.2	37	c.515G>A	CCDS9631.1	.	.	.	.	.	.	.	.	.	.	C	18.24	3.580946	0.65992	.	.	ENSG00000100448	ENST00000216336	D	0.96992	-4.2	5.14	5.14	0.70334	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.41605	D	0.000858	D	0.98798	0.9595	H	0.97340	3.985	0.50632	D	0.999884	D	0.89917	1.0	D	0.91635	0.999	D	0.99091	1.0840	10	0.87932	D	0	.	14.8308	0.70146	0.0:1.0:0.0:0.0	.	172	P08311	CATG_HUMAN	Y	172	ENSP00000216336:C172Y	ENSP00000216336:C172Y	C	-	2	0	CTSG	24113370	0.965000	0.33210	0.374000	0.26016	0.003000	0.03518	3.964000	0.56780	2.780000	0.95670	0.655000	0.94253	TGC		0.627	CTSG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276536.2	NM_001911		13	31	0	0	0	1	0	13	31					T	25043530	C	T	25043530	3	4	386	1	0	0	0	0	1	0	0	0	4035	710	25	3	260	3	CTSG	14	25043530	Missense_Mutation	SNP	C	TCGA-V1-A9OH-01A-11D-A41K-08		25043530	82306010	50	18962											
FUT8	2530	broad.mit.edu	37	chr14	66190944	66190944	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agtacatggtgcatgttgaaGaacattttcagcttcttgca	11	14	9	7	0	2	2	1	1	1	1	2	2	2	2	0	1	5	5	0	1	3	6			TCGA-V1-A9OH-01A-11D-A41K-08	TCGA-V1-A9OH-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	447d759f-3770-49ac-8ff4-80ede8b435cd	ea11e1b5-ed5c-47f0-a320-9b8bffa66a4d	g.chr14:66190944G>C	ENST00000360689.5	+	9	2889	c.1162G>C	c.(1162-1164)Gaa>Caa	p.E388Q	FUT8_ENST00000417683.1_Intron|FUT8_ENST00000557164.1_Missense_Mutation_p.E225Q|FUT8_ENST00000394586.2_Missense_Mutation_p.E388Q|FUT8_ENST00000358307.2_Missense_Mutation_p.E259Q|FUT8_ENST00000394585.1_Missense_Mutation_p.E388Q	NM_004480.4|NM_178155.2	NP_004471.4|NP_835368.1	Q9BYC5	FUT8_HUMAN	fucosyltransferase 8 (alpha (1,6) fucosyltransferase)	388	GT23. {ECO:0000255|PROSITE- ProRule:PRU00992}.				cell migration (GO:0016477)|cellular protein metabolic process (GO:0044267)|GDP-L-fucose metabolic process (GO:0046368)|in utero embryonic development (GO:0001701)|integrin-mediated signaling pathway (GO:0007229)|L-fucose catabolic process (GO:0042355)|N-glycan fucosylation (GO:0036071)|N-glycan processing (GO:0006491)|oligosaccharide biosynthetic process (GO:0009312)|post-translational protein modification (GO:0043687)|protein glycosylation in Golgi (GO:0033578)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)|receptor metabolic process (GO:0043112)|respiratory gaseous exchange (GO:0007585)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi cisterna membrane (GO:0032580)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	glycoprotein 6-alpha-L-fucosyltransferase activity (GO:0008424)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)	22				all cancers(60;0.00109)|OV - Ovarian serous cystadenocarcinoma(108;0.00242)|BRCA - Breast invasive adenocarcinoma(234;0.0114)		GCATGTTGAAGAACATTTTCA	0.433																																						ENST00000360689.5																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)	22						c.(1162-1164)Gaa>Caa		fucosyltransferase 8 (alpha (1,6) fucosyltransferase)							128	105	113					14																	66190944		2203	4300	6503	SO:0001583	missense	2530				in utero embryonic development|L-fucose catabolic process|N-glycan processing|oligosaccharide biosynthetic process|post-translational protein modification|protein glycosylation in Golgi|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|integral to membrane	glycoprotein 6-alpha-L-fucosyltransferase activity|SH3 domain binding	g.chr14:66190944G>C	AB049740	CCDS9775.1, CCDS9776.1, CCDS9776.2	14q24.3	2013-02-26			ENSG00000033170	ENSG00000033170		"Fucosyltransferases"	4019	protein-coding gene	gene with protein product		602589				9368041	Standard	NM_178155		Approved		uc001xio.3	Q9BYC5	OTTHUMG00000142818	ENST00000360689.5:c.1162G>C	14.37:g.66190944G>C	ENSP00000353910:p.Glu388Gln					FUT8_ENST00000358307.2_Missense_Mutation_p.E259Q|FUT8_ENST00000417683.1_Intron|FUT8_ENST00000394585.1_Missense_Mutation_p.E388Q|FUT8_ENST00000557164.1_Missense_Mutation_p.E225Q|FUT8_ENST00000394586.2_Missense_Mutation_p.E388Q	p.E388Q	NM_004480.4|NM_178155.2	NP_004471.4|NP_835368.1	Q9BYC5	FUT8_HUMAN		all cancers(60;0.00109)|OV - Ovarian serous cystadenocarcinoma(108;0.00242)|BRCA - Breast invasive adenocarcinoma(234;0.0114)	9	2889	+			388					B4DFS7|G3V5N0|O00235|Q8IUA5|Q9BYC6|Q9P2U5|Q9P2U6	Missense_Mutation	SNP	ENST00000360689.5	37	c.1162G>C	CCDS9775.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.945740	0.73672	.	.	ENSG00000033170	ENST00000360689;ENST00000394586;ENST00000557164;ENST00000394585;ENST00000358307	T;T;T;T;T	0.24151	1.87;1.87;1.87;1.87;1.87	5.81	5.81	0.92471	.	0.046567	0.85682	D	0.000000	T	0.24275	0.0588	L	0.39326	1.205	0.80722	D	1	P;P	0.47762	0.9;0.9	B;B	0.41202	0.263;0.35	T	0.01363	-1.1374	10	0.23302	T	0.38	-13.4837	17.5723	0.87937	0.0:0.0:1.0:0.0	.	259;388	G3XAD2;Q9BYC5	.;FUT8_HUMAN	Q	388;388;225;388;259	ENSP00000353910:E388Q;ENSP00000378087:E388Q;ENSP00000452433:E225Q;ENSP00000378086:E388Q;ENSP00000351057:E259Q	ENSP00000351057:E259Q	E	+	1	0	FUT8	65260697	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.804000	0.99143	2.736000	0.93811	0.655000	0.94253	GAA		0.433	FUT8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286406.1	NM_004480		14	48	0	0	0	1	0	14	48					C	66190944	G	C	66190944	3	2	386	1	0	0	0	0	1	0	0	0	6110	943	33	5	1287	5	FUT8	14	66190944	Missense_Mutation	SNP	G	TCGA-V1-A9OH-01A-11D-A41K-08	41147414	66190944	41158596	51	18963											
WDR20	91833	broad.mit.edu	37	chr14	102675209	102675209	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttctccccagatggcaagttCttagcgtgcgtgagccagga	8	10	12	11	2	2	2	0	1	2	1	3	3	2	3	3	2	3	2	3	2	2	3			TCGA-V1-A9OH-01A-11D-A41K-08	TCGA-V1-A9OH-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	447d759f-3770-49ac-8ff4-80ede8b435cd	ea11e1b5-ed5c-47f0-a320-9b8bffa66a4d	g.chr14:102675209C>T	ENST00000342702.3	+	3	733	c.702C>T	c.(700-702)ttC>ttT	p.F234F	WDR20_ENST00000335263.5_Silent_p.F234F|WDR20_ENST00000499851.2_5'UTR|WDR20_ENST00000322340.5_Intron|WDR20_ENST00000299135.6_3'UTR|WDR20_ENST00000556807.1_Silent_p.F173F|WDR20_ENST00000556511.2_Silent_p.F173F|WDR20_ENST00000454394.2_Silent_p.F265F|WDR20_ENST00000424963.2_Silent_p.F110F|WDR20_ENST00000545563.1_Silent_p.F61F	NM_001242418.1|NM_144574.3	NP_001229347.1|NP_653175.2	Q8TBZ3	WDR20_HUMAN	WD repeat domain 20	234										breast(1)|large_intestine(2)|lung(4)|prostate(1)	8						ATGGCAAGTTCTTAGCGTGCG	0.557																																						ENST00000335263.5																			0				breast(1)|large_intestine(2)|lung(4)|prostate(1)	8						c.(700-702)ttC>ttT		WD repeat domain 20							71	68	69					14																	102675209		2203	4300	6503	SO:0001819	synonymous_variant	91833							g.chr14:102675209C>T	BC028387	CCDS9968.1, CCDS9969.1, CCDS9970.1, CCDS55942.1, CCDS55943.1, CCDS55944.1, CCDS55945.1	14q32.31	2013-01-09				ENSG00000140153		"WD repeat domain containing"	19667	protein-coding gene	gene with protein product							Standard	NM_181291		Approved	DMR, MGC33177, FLJ33659	uc010txu.2	Q8TBZ3		ENST00000342702.3:c.702C>T	14.37:g.102675209C>T						WDR20_ENST00000342702.3_Silent_p.F234F|WDR20_ENST00000556807.1_Silent_p.F173F|WDR20_ENST00000322340.5_Intron|WDR20_ENST00000556511.2_Silent_p.F173F|WDR20_ENST00000424963.2_Silent_p.F110F|WDR20_ENST00000299135.6_3'UTR|WDR20_ENST00000545563.1_Silent_p.F61F|WDR20_ENST00000499851.2_5'UTR|WDR20_ENST00000454394.2_Silent_p.F265F	p.F234F	NM_181291.2	NP_851808.1	Q8TBZ3	WDR20_HUMAN			3	782	+			234					B4DN18|E7EUY8|F8W9S4|G3V2F8|G3V5R0|H0YJJ1|Q86TU2|Q8NCN7|Q8WXX2|Q9UF86	Silent	SNP	ENST00000342702.3	37	c.702C>T	CCDS9969.1	.	.	.	.	.	.	.	.	.	.	C	4.513	0.095245	0.08681	.	.	ENSG00000140153	ENST00000556511	.	.	.	5.83	4.95	0.65309	.	.	.	.	.	T	0.71091	0.3299	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.70532	-0.4846	4	.	.	.	.	15.1418	0.72615	0.0:0.9324:0.0:0.0676	.	.	.	.	F	165	.	.	L	+	1	0	WDR20	101744962	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	3.812000	0.55628	1.486000	0.48398	-0.137000	0.14449	CTT		0.557	WDR20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414963.1	NM_181291		8	34	0	0	0	1	0	8	34					T	102675209	C	T	102675209	2	4	386	1	0	0	0	0	0	0	0	1	17277	912	32	3		3	WDR20	14	102675209	Silent	SNP	C	TCGA-V1-A9OH-01A-11D-A41K-08	36484265	102675209	4674331	52	18964											
ITGAL	3683	broad.mit.edu	37	chr16	30516582	30516582	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcagggcaaggacataccGcccatcctgagaccctccct	10	5	9	17	1	0	1	0	1	0	1	2	3	2	2	5	2	2	2	5	2	2	1	rs573022300		TCGA-V1-A9OH-01A-11D-A41K-08	TCGA-V1-A9OH-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	447d759f-3770-49ac-8ff4-80ede8b435cd	ea11e1b5-ed5c-47f0-a320-9b8bffa66a4d	g.chr16:30516582G>A	ENST00000356798.6	+	19	2433	c.2253G>A	c.(2251-2253)ccG>ccA	p.P751P	ITGAL_ENST00000358164.5_Silent_p.P667P|MIR4518_ENST00000580665.1_RNA|ITGAL_ENST00000433423.2_Intron	NM_002209.2	NP_002200.2	P20701	ITAL_HUMAN	integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide)	751					activated T cell proliferation (GO:0050798)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|cellular component movement (GO:0006928)|extracellular matrix organization (GO:0030198)|heterophilic cell-cell adhesion (GO:0007157)|inflammatory response (GO:0006954)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of T cell proliferation (GO:0042102)|receptor clustering (GO:0043113)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell (GO:0002291)	cell surface (GO:0009986)|cell-cell junction (GO:0005911)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|integrin alphaL-beta2 complex (GO:0034687)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|ICAM-3 receptor activity (GO:0030369)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	76					Antithymocyte globulin(DB00098)|Efalizumab(DB00095)|Lovastatin(DB00227)	AGGACATACCGCCCATCCTGA	0.607													G|||	1	0.000199681	0	0	5008	,	,		19448	0.001		0	False		,,,				2504	0				NSCLC(110;1462 1641 3311 33990 49495)	ENST00000356798.6																			0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	76						c.(2251-2253)ccG>ccA		integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide)	Efalizumab(DB00095)						86	73	77					16																	30516582		2197	4300	6497	SO:0001819	synonymous_variant	0				blood coagulation|heterophilic cell-cell adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell	integrin complex	cell adhesion molecule binding|receptor activity	g.chr16:30516582G>A		CCDS32433.1, CCDS45461.1	16p13.1-p11	2010-03-23				ENSG00000005844		"CD molecules", "Integrins"	6148	protein-coding gene	gene with protein product		153370		CD11A		3284962	Standard	NM_002209		Approved	LFA-1	uc002dyi.4	P20701		ENST00000356798.6:c.2253G>A	16.37:g.30516582G>A						ITGAL_ENST00000433423.2_Intron|ITGAL_ENST00000358164.5_Silent_p.P667P	p.P751P	NM_002209.2	NP_002200.2	P20701	ITAL_HUMAN			19	2433	+			751					O43746|Q45H73|Q96HB1|Q9UBC8	Silent	SNP	ENST00000356798.6	37	c.2253G>A	CCDS32433.1																																																																																				0.607	ITGAL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434508.2			7	26	0	0	0	1	0	7	26					A	30516582	G	A	30516582	2	1	386	1	0	0	0	0	0	0	0	1	7886	1074	38	1		1	ITGAL	16	30516582	Silent	SNP	G	TCGA-V1-A9OH-01A-11D-A41K-08		30516582	59838171	53	18965											
FXR2	9513	broad.mit.edu	37	chr17	7504806	7504806	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcggaaatgcatatcacccAgcagagatgctcgcttcaca	12	9	8	12	2	2	1	2	0	0	1	4	3	2	2	1	1	3	4	1	1	2	3			TCGA-V1-A9OH-01A-11D-A41K-08	TCGA-V1-A9OH-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	447d759f-3770-49ac-8ff4-80ede8b435cd	ea11e1b5-ed5c-47f0-a320-9b8bffa66a4d	g.chr17:7504806A>T	ENST00000250113.7	-	7	915	c.581T>A	c.(580-582)cTg>cAg	p.L194Q		NM_004860.3	NP_004851.2	P51116	FXR2_HUMAN	fragile X mental retardation, autosomal homolog 2	194						cytoplasm (GO:0005737)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.?(1)		NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)	26				READ - Rectum adenocarcinoma(115;0.17)		CATATCACCCAGCAGAGATGC	0.488																																						ENST00000250113.7																			1	Unknown(1)	p.?(1)	haematopoietic_and_lymphoid_tissue(1)	NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)	26						c.(580-582)cTg>cAg		fragile X mental retardation, autosomal homolog 2							202	198	199					17																	7504806		1951	4167	6118	SO:0001583	missense	9513					cytosolic large ribosomal subunit	protein binding|RNA binding	g.chr17:7504806A>T	U31501	CCDS45604.1	17p13.3	2014-09-17				ENSG00000129245			4024	protein-coding gene	gene with protein product		605339		FMR1L2		7489725, 9259278	Standard	NM_004860		Approved		uc002gia.2	P51116		ENST00000250113.7:c.581T>A	17.37:g.7504806A>T	ENSP00000250113:p.Leu194Gln						p.L194Q	NM_004860.3	NP_004851.2	P51116	FXR2_HUMAN		READ - Rectum adenocarcinoma(115;0.17)	7	915	-			194					B2R9M2|D3DTQ1|Q86V09|Q8WUM2	Missense_Mutation	SNP	ENST00000250113.7	37	c.581T>A	CCDS45604.1	.	.	.	.	.	.	.	.	.	.	A	26.4	4.736007	0.89482	.	.	ENSG00000129245	ENST00000250113	T	0.60920	0.15	5.44	5.44	0.79542	.	0.000000	0.64402	D	0.000001	T	0.76744	0.4030	M	0.82823	2.61	0.80722	D	1	D;D	0.76494	0.999;0.997	D;D	0.74674	0.984;0.976	T	0.80723	-0.1255	10	0.87932	D	0	-4.7541	13.4469	0.61146	1.0:0.0:0.0:0.0	.	194;194	Q86V09;P51116	.;FXR2_HUMAN	Q	194	ENSP00000250113:L194Q	ENSP00000250113:L194Q	L	-	2	0	FXR2	7445531	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.092000	0.94157	2.059000	0.61396	0.523000	0.50628	CTG		0.488	FXR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441084.1			12	158	0	0	0	1	0	12	158					T	7504806	A	T	7504806	3	4	386	1	0	0	0	0	1	0	0	0	6116	188	7	5	1384	5	FXR2	17	7504806	Missense_Mutation	SNP	A	TCGA-V1-A9OH-01A-11D-A41K-08		7504806	73690404	54	18966											
ARHGEF15	22899	broad.mit.edu	37	chr17	8218480	8218480	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tccagcaaatgctggagatgCacccaccttcccacgacccc	10	6	7	18	1	0	1	0	0	0	1	2	3	2	1	6	1	3	3	6	1	1	1			TCGA-V1-A9OH-01A-11D-A41K-08	TCGA-V1-A9OH-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	447d759f-3770-49ac-8ff4-80ede8b435cd	ea11e1b5-ed5c-47f0-a320-9b8bffa66a4d	g.chr17:8218480C>T	ENST00000361926.3	+	6	1255	c.1145C>T	c.(1144-1146)gCa>gTa	p.A382V	ARHGEF15_ENST00000421050.1_Missense_Mutation_p.A382V|AC135178.7_ENST00000458568.1_RNA	NM_173728.3	NP_776089.2	O94989	ARHGF_HUMAN	Rho guanine nucleotide exchange factor (GEF) 15	382					negative regulation of synapse maturation (GO:2000297)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of stress fiber assembly (GO:0051496)|regulation of catalytic activity (GO:0050790)|retina vasculature morphogenesis in camera-type eye (GO:0061299)	cytoplasm (GO:0005737)|dendrite (GO:0030425)	GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|endometrium(9)|large_intestine(5)|lung(11)|ovary(5)|prostate(3)|skin(2)|urinary_tract(1)	37						GCTGGAGATGCACCCACCTTC	0.627																																						ENST00000361926.3																			0				breast(1)|endometrium(9)|large_intestine(5)|lung(11)|ovary(5)|prostate(3)|skin(2)|urinary_tract(1)	37						c.(1144-1146)gCa>gTa		Rho guanine nucleotide exchange factor (GEF) 15							37	37	37					17																	8218480		2203	4300	6503	SO:0001583	missense	22899				negative regulation of synapse maturation|regulation of Rho protein signal transduction	dendrite|intracellular	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	g.chr17:8218480C>T	AB020722	CCDS11139.1	17p13.1	2011-11-16			ENSG00000198844	ENSG00000198844		"Rho guanine nucleotide exchange factors"	15590	protein-coding gene	gene with protein product	"Rho guanine exchange factor (GEF) 15"	608504				10048485	Standard	NM_173728		Approved	KIAA0915, Vsm-RhoGEF, ARGEF15, FLJ13791, MGC44868	uc002glc.3	O94989	OTTHUMG00000108187	ENST00000361926.3:c.1145C>T	17.37:g.8218480C>T	ENSP00000355026:p.Ala382Val					ARHGEF15_ENST00000421050.1_Missense_Mutation_p.A382V	p.A382V	NM_173728.3	NP_776089.2	O94989	ARHGF_HUMAN			6	1255	+			382					A8K6G1|Q8N449|Q9H8B4	Missense_Mutation	SNP	ENST00000361926.3	37	c.1145C>T	CCDS11139.1	.	.	.	.	.	.	.	.	.	.	c	7.322	0.617207	0.14129	.	.	ENSG00000198844	ENST00000361926;ENST00000455564;ENST00000421050	T;T	0.71103	-0.54;-0.54	4.88	2.89	0.33648	.	0.813526	0.11594	N	0.548457	T	0.56277	0.1974	L	0.27053	0.805	0.09310	N	1	B;B	0.17465	0.022;0.022	B;B	0.16289	0.015;0.015	T	0.48670	-0.9015	10	0.49607	T	0.09	-0.034	8.3131	0.32084	0.0:0.8112:0.0:0.1888	.	382;382	D3DTR7;O94989	.;ARHGF_HUMAN	V	382;172;382	ENSP00000355026:A382V;ENSP00000412505:A382V	ENSP00000355026:A382V	A	+	2	0	ARHGEF15	8159205	0.006000	0.16342	0.015000	0.15790	0.060000	0.15804	2.165000	0.42396	0.755000	0.32990	-0.215000	0.12644	GCA		0.627	ARHGEF15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226993.2	NM_173728		7	15	0	0	0	1	0	7	15					T	8218480	C	T	8218480	3	4	386	1	0	0	0	0	1	0	0	0	898	710	25	3	1163	3	ARHGEF15	17	8218480	Missense_Mutation	SNP	C	TCGA-V1-A9OH-01A-11D-A41K-08	713674	8218480	72976730	55	18967											
COL1A1	1277	broad.mit.edu	37	chr17	48265275	48265275	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctggaggccagagaagccacGgtgaccctttatgcctctgt	8	9	12	12	1	1	2	0	1	1	1	1	4	1	3	4	3	2	0	4	3	2	2			TCGA-V1-A9OH-01A-11D-A41K-08	TCGA-V1-A9OH-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	447d759f-3770-49ac-8ff4-80ede8b435cd	ea11e1b5-ed5c-47f0-a320-9b8bffa66a4d	g.chr17:48265275G>A	ENST00000225964.5	-	45	3449	c.3331C>T	c.(3331-3333)Cgt>Tgt	p.R1111C		NM_000088.3	NP_000079	P02452	CO1A1_HUMAN	collagen, type I, alpha 1	1111	Triple-helical region.				blood coagulation (GO:0007596)|blood vessel development (GO:0001568)|bone trabecula formation (GO:0060346)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|cellular response to amino acid stimulus (GO:0071230)|cellular response to mechanical stimulus (GO:0071260)|cellular response to retinoic acid (GO:0071300)|cellular response to transforming growth factor beta stimulus (GO:0071560)|collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|embryonic skeletal system development (GO:0048706)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|face morphogenesis (GO:0060325)|intramembranous ossification (GO:0001957)|leukocyte migration (GO:0050900)|negative regulation of cell-substrate adhesion (GO:0010812)|osteoblast differentiation (GO:0001649)|platelet activation (GO:0030168)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of transcription, DNA-templated (GO:0045893)|protein heterotrimerization (GO:0070208)|protein localization to nucleus (GO:0034504)|protein transport (GO:0015031)|response to cAMP (GO:0051591)|response to corticosteroid (GO:0031960)|response to estradiol (GO:0032355)|response to hydrogen peroxide (GO:0042542)|response to nutrient (GO:0007584)|response to peptide hormone (GO:0043434)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|skin morphogenesis (GO:0043589)|tooth mineralization (GO:0034505)|visual perception (GO:0007601)	collagen type I trimer (GO:0005584)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	extracellular matrix structural constituent (GO:0005201)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)		COL1A1/PDGFB(429)	NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	71					Collagenase(DB00048)	GAGAAGCCACGGTGACCCTTT	0.622			T	"PDGFB, USP6"	"dermatofibrosarcoma protuberans, aneurysmal bone cyst "		Osteogenesis imperfecta																															ENST00000225964.5				Dom	yes		17	17q21.31-q22	1277	T	"collagen, type I, alpha 1"	yes	Osteogenesis imperfecta	M	"PDGFB, USP6"		"dermatofibrosarcoma protuberans, aneurysmal bone cyst "	COL1A1/PDGFB(429)	0				NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	71						c.(3331-3333)Cgt>Tgt		collagen, type I, alpha 1	Collagenase(DB00048)|Palifermin(DB00039)						91	82	85					17																	48265275		2203	4300	6503	SO:0001583	missense	1277				axon guidance|blood vessel development|collagen biosynthetic process|collagen fibril organization|embryonic skeletal system development|leukocyte migration|platelet activation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|protein localization to nucleus|sensory perception of sound|skin morphogenesis|tooth mineralization|visual perception	collagen type I|extracellular space|plasma membrane	identical protein binding|platelet-derived growth factor binding	g.chr17:48265275G>A	Z74615	CCDS11561.1	17q21.33	2014-09-17			ENSG00000108821	ENSG00000108821		"Collagens"	2197	protein-coding gene	gene with protein product		120150				3178743, 2857713	Standard	NM_000088		Approved	OI4	uc002iqm.3	P02452	OTTHUMG00000148674	ENST00000225964.5:c.3331C>T	17.37:g.48265275G>A	ENSP00000225964:p.Arg1111Cys						p.R1111C	NM_000088.3	NP_000079.2	P02452	CO1A1_HUMAN			45	3449	-			1111			Triple-helical region.		O76045|P78441|Q13896|Q13902|Q13903|Q14037|Q14992|Q15176|Q15201|Q16050|Q59F64|Q7KZ30|Q7KZ34|Q8IVI5|Q8N473|Q9UML6|Q9UMM7	Missense_Mutation	SNP	ENST00000225964.5	37	c.3331C>T	CCDS11561.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.289915	0.80914	.	.	ENSG00000108821	ENST00000225964	D	0.93426	-3.22	5.0	3.97	0.46021	.	0.000000	0.85682	D	0.000000	D	0.95818	0.8639	M	0.79011	2.435	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.95519	0.8593	10	0.87932	D	0	.	9.8241	0.40901	0.0:0.0:0.5898:0.4102	.	1111	P02452	CO1A1_HUMAN	C	1111	ENSP00000225964:R1111C	ENSP00000225964:R1111C	R	-	1	0	COL1A1	45620274	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.714000	0.47202	2.315000	0.78130	0.462000	0.41574	CGT		0.622	COL1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309036.2			6	128	0	0	0	1	0	6	128					A	48265275	G	A	48265275	3	1	386	1	0	0	0	0	1	0	0	0	3677	1116	39	2	1091	2	COL1A1	17	48265275	Missense_Mutation	SNP	G	TCGA-V1-A9OH-01A-11D-A41K-08	40046795	48265275	32929935	56	18968											
EPB41L3	23136	broad.mit.edu	37	chr18	5397070	5397070	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tagttacctcaaaatgaggtTtttgttccaaagtttctgaa	12	16	7	6	0	2	2	1	2	1	0	3	2	3	2	2	1	1	4	2	1	6	6			TCGA-V1-A9OH-01A-11D-A41K-08	TCGA-V1-A9OH-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	447d759f-3770-49ac-8ff4-80ede8b435cd	ea11e1b5-ed5c-47f0-a320-9b8bffa66a4d	g.chr18:5397070T>A	ENST00000341928.2	-	18	3168	c.2828A>T	c.(2827-2829)aAa>aTa	p.K943I	EPB41L3_ENST00000342933.3_Missense_Mutation_p.K943I|EPB41L3_ENST00000427684.2_Missense_Mutation_p.K240I|EPB41L3_ENST00000400111.3_Missense_Mutation_p.K721I|EPB41L3_ENST00000540638.2_Missense_Mutation_p.K721I|EPB41L3_ENST00000544123.1_Missense_Mutation_p.K774I|EPB41L3_ENST00000542146.1_Missense_Mutation_p.K248I|EPB41L3_ENST00000542652.2_5'UTR	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	943	C-terminal (CTD).				apoptotic process (GO:0006915)|cortical actin cytoskeleton organization (GO:0030866)|cortical cytoskeleton organization (GO:0030865)|cytoskeletal anchoring at plasma membrane (GO:0007016)|myelin maintenance (GO:0043217)|neuron projection morphogenesis (GO:0048812)|paranodal junction assembly (GO:0030913)|protein localization to juxtaparanode region of axon (GO:0071205)|protein localization to paranode region of axon (GO:0002175)|protein localization to plasma membrane (GO:0072659)|regulation of cell shape (GO:0008360)	axolemma (GO:0030673)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)|juxtaparanode region of axon (GO:0044224)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						AAAATGAGGTTTTTGTTCCAA	0.418																																						ENST00000341928.2																			0				breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						c.(2827-2829)aAa>aTa		erythrocyte membrane protein band 4.1-like 3							74	73	73					18																	5397070		2203	4300	6503	SO:0001583	missense	23136				cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity	g.chr18:5397070T>A	AB023204	CCDS11838.1, CCDS62381.1, CCDS62382.1	18p11.32	2006-06-28			ENSG00000082397	ENSG00000082397			3380	protein-coding gene	gene with protein product		605331				9828140, 9892180	Standard	NM_012307		Approved	DAL1, KIAA0987, 4.1B	uc002kmt.1	Q9Y2J2	OTTHUMG00000131562	ENST00000341928.2:c.2828A>T	18.37:g.5397070T>A	ENSP00000343158:p.Lys943Ile					EPB41L3_ENST00000542146.1_Missense_Mutation_p.K248I|EPB41L3_ENST00000427684.2_Missense_Mutation_p.K240I|EPB41L3_ENST00000542652.2_5'UTR|EPB41L3_ENST00000342933.3_Missense_Mutation_p.K943I|EPB41L3_ENST00000544123.1_Missense_Mutation_p.K774I|EPB41L3_ENST00000400111.3_Missense_Mutation_p.K721I|EPB41L3_ENST00000540638.2_Missense_Mutation_p.K721I	p.K943I	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN			18	3168	-			943			Carboxyl-terminal (CTD).		B7Z4I5|F5GX05|O95713|Q9BRP5	Missense_Mutation	SNP	ENST00000341928.2	37	c.2828A>T	CCDS11838.1	.	.	.	.	.	.	.	.	.	.	T	17.24	3.339505	0.60963	.	.	ENSG00000082397	ENST00000341928;ENST00000540638;ENST00000544123;ENST00000545076;ENST00000427684;ENST00000542146;ENST00000342933;ENST00000400111	T;T;T;T;T;T	0.62498	0.02;0.02;0.02;0.02;0.02;0.02	5.76	3.36	0.38483	.	0.307287	0.34652	N	0.003791	T	0.71476	0.3344	M	0.71581	2.175	0.53688	D	0.999976	D;D;B;B;B;B;P;B	0.89917	0.999;1.0;0.38;0.027;0.28;0.053;0.601;0.027	D;D;B;B;B;B;B;B	0.91635	0.997;0.999;0.355;0.019;0.117;0.052;0.288;0.013	T	0.68198	-0.5472	10	0.16896	T	0.51	.	7.3062	0.26449	0.13:0.0697:0.0:0.8003	.	774;240;248;335;612;721;943;178	F5GX05;E7EUF8;F5H7W5;B7Z8M8;A8K968;Q9Y2J2-2;Q9Y2J2;B3KT50	.;.;.;.;.;.;E41L3_HUMAN;.	I	943;612;774;612;240;248;943;721	ENSP00000343158:K943I;ENSP00000441174:K774I;ENSP00000392195:K240I;ENSP00000442233:K248I;ENSP00000341138:K943I;ENSP00000382981:K721I	ENSP00000343158:K943I	K	-	2	0	EPB41L3	5387070	1.000000	0.71417	0.918000	0.36340	0.871000	0.50021	2.149000	0.42244	0.975000	0.38392	0.482000	0.46254	AAA		0.418	EPB41L3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254424.1	NM_012307		13	55	0	0	0	1	0	13	55					A	5397070	T	A	5397070	3	1	386	1	0	0	0	0	1	0	0	0	5154	1841	64	5	455	5	EPB41L3	18	5397070	Missense_Mutation	SNP	T	TCGA-V1-A9OH-01A-11D-A41K-08		5397070	72680178	57	18969											
ZNF20	7568	broad.mit.edu	37	chr19	12244346	12244346	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tttcacaccagtgtgaattcGttcatggataagacataaat	14	13	7	7	1	2	2	2	1	0	1	3	3	2	3	1	1	0	1	1	1	4	5			TCGA-V1-A9OH-01A-11D-A41K-08	TCGA-V1-A9OH-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	447d759f-3770-49ac-8ff4-80ede8b435cd	ea11e1b5-ed5c-47f0-a320-9b8bffa66a4d	g.chr19:12244346G>A	ENST00000334213.5	-	4	879	c.655C>T	c.(655-657)Cga>Tga	p.R219*	ZNF625-ZNF20_ENST00000430024.1_3'UTR|ZNF20_ENST00000600335.1_Intron|ZNF20_ENST00000485451.1_5'Flank	NM_001203250.1|NM_021143.3	NP_001190179.1|NP_066966.2	P17024	ZNF20_HUMAN	zinc finger protein 20	219					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|kidney(1)|lung(6)	8						GTGTGAATTCGTTCATGGATA	0.393																																						ENST00000334213.5																			0				endometrium(1)|kidney(1)|lung(6)	8						c.(655-657)Cga>Tga		zinc finger protein 20							110	119	116					19																	12244346		2197	4296	6493	SO:0001587	stop_gained	7568				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12244346G>A	X52344	CCDS45986.1	19p13.2	2013-01-08	2006-05-10		ENSG00000132010	ENSG00000132010		"Zinc fingers, C2H2-type", "-"	12992	protein-coding gene	gene with protein product		194557	"zinc finger protein 20 (KOX 13)"				Standard	NM_021143		Approved	KOX13	uc002mtf.2	P17024	OTTHUMG00000156409	ENST00000334213.5:c.655C>T	19.37:g.12244346G>A	ENSP00000335437:p.Arg219*					ZNF20_ENST00000600335.1_Intron|ZNF625-ZNF20_ENST00000430024.1_3'UTR	p.R219*	NM_001203250.1|NM_021143.3	NP_001190179.1|NP_066966.2	P17024	ZNF20_HUMAN			4	879	-			219					Q8N457|Q9UG41	Nonsense_Mutation	SNP	ENST00000334213.5	37	c.655C>T	CCDS45986.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.087545	0.76642	.	.	ENSG00000132010	ENST00000334213;ENST00000292241	.	.	.	0.94	-0.343	0.12632	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	4.9302	0.13914	0.0:0.0:0.3388:0.6612	.	.	.	.	X	219	.	ENSP00000292241:R219X	R	-	1	2	ZNF20	12105346	0.000000	0.05858	0.005000	0.12908	0.437000	0.31866	-0.348000	0.07740	-0.157000	0.11059	0.313000	0.20887	CGA		0.393	ZNF20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344101.1	NM_021143		8	129	0	0	0	1	0	8	129					A	12244346	G	A	12244346	4	1	386	1	0	0	0	0	0	1	0	0	17758	1153	40	1	947	1	ZNF20	19	12244346	Nonsense_Mutation	SNP	G	TCGA-V1-A9OH-01A-11D-A41K-08		12244346	46884637	58	18970											
NCOA6	23054	broad.mit.edu	37	chr20	33337295	33337304	+	Frame_Shift_Del	DEL	CCCAAAATGG	CCCAAAATGG	-																															ttattttgcttattgtttacCccaaaatggcctgcagatat																										TCGA-V1-A9OH-01A-11D-A41K-08	TCGA-V1-A9OH-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	447d759f-3770-49ac-8ff4-80ede8b435cd	ea11e1b5-ed5c-47f0-a320-9b8bffa66a4d	g.chr20:33337295_33337304delCCCAAAATGG	ENST00000374796.2	-	10	5264_5273	c.2694_2703delCCATTTTGGG	c.(2692-2703)ggccattttgggfs	p.GHFG898fs	NCOA6_ENST00000359003.2_Frame_Shift_Del_p.GHFG898fs			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	898	CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|NCOA6IP-binding region.|TBP/GTF2A-binding region.				brain development (GO:0007420)|cellular lipid metabolic process (GO:0044255)|cellular response to DNA damage stimulus (GO:0006974)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA-templated transcription, initiation (GO:0006352)|glucocorticoid receptor signaling pathway (GO:0042921)|heart development (GO:0007507)|intracellular estrogen receptor signaling pathway (GO:0030520)|labyrinthine layer blood vessel development (GO:0060716)|myeloid cell differentiation (GO:0030099)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|response to hormone (GO:0009725)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)	histone methyltransferase complex (GO:0035097)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|estrogen receptor binding (GO:0030331)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						TATTGTTTACCCCAAAATGGCCTGCAGATA	0.419																																						ENST00000374796.2																			0				NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						c.(2692-2703)ggfs		nuclear receptor coactivator 6																																				SO:0001589	frameshift_variant	23054				brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding	g.chr20:33337295_33337304delCCCAAAATGG	AF128458	CCDS13241.1, CCDS74720.1	20q11	2008-08-01			ENSG00000198646	ENSG00000198646			15936	protein-coding gene	gene with protein product	"nuclear receptor coactivator RAP250", "activating signal cointegrator-2", "peroxisome proliferator-activated receptor interacting protein"	605299				8724849, 8263591	Standard	NM_014071		Approved	KIAA0181, RAP250, ASC2, AIB3, PRIP, TRBP, NRC	uc002xaw.3	Q14686	OTTHUMG00000032311	ENST00000374796.2:c.2694_2703delCCATTTTGGG	20.37:g.33337295_33337304delCCCAAAATGG	ENSP00000363929:p.Gly898fs					NCOA6_ENST00000359003.2_Frame_Shift_Del_p.GHFG898fs	p.GHFG898fs			Q14686	NCOA6_HUMAN			10	5264_5273	-			898			CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|NCOA6IP-binding region.|TBP/GTF2A-binding region.		A6NLF1|B2RMN5|E1P5P7|Q9NTZ9|Q9UH74|Q9UK86	Frame_Shift_Del	DEL	ENST00000374796.2	37	c.2694_2703delCCATTTTGGG	CCDS13241.1																																																																																				0.419	NCOA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078811.2	NM_014071		7	125						7	125	---	---	---	---	-	33337304	CCCAAAATGG	-	33337295	7	5	386	1	0	1	0	1	0	0	0	0	10233	610	22	0	3516	0	NCOA6	20	33337295	Frame_Shift_Del	DEL	CCCAAAATGG	TCGA-V1-A9OH-01A-11D-A41K-08		33337295	29688225	59	18971											
ARFGEF2	10564	broad.mit.edu	37	chr20	47605037	47605037	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tttaattacaggtaaaaaatAaaatgacgaaagagcagtat	21	10	7	3	1	0	2	0	1	0	1	0	3	0	2	0	1	2	3	0	1	9	6			TCGA-V1-A9OH-01A-11D-A41K-08	TCGA-V1-A9OH-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	447d759f-3770-49ac-8ff4-80ede8b435cd	ea11e1b5-ed5c-47f0-a320-9b8bffa66a4d	g.chr20:47605037A>G	ENST00000371917.4	+	18	2371	c.2371A>G	c.(2371-2373)Aaa>Gaa	p.K791E		NM_006420.2	NP_006411.2	Q9Y6D5	BIG2_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited)	791					endomembrane system organization (GO:0010256)|endosome organization (GO:0007032)|exocytosis (GO:0006887)|Golgi to plasma membrane transport (GO:0006893)|intracellular signal transduction (GO:0035556)|positive regulation of GTPase activity (GO:0043547)|positive regulation of tumor necrosis factor production (GO:0032760)|protein transport (GO:0015031)|receptor recycling (GO:0001881)|regulation of ARF protein signal transduction (GO:0032012)|vesicle-mediated transport (GO:0016192)	asymmetric synapse (GO:0032279)|axonemal microtubule (GO:0005879)|cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|Golgi membrane (GO:0000139)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|recycling endosome (GO:0055037)|symmetric synapse (GO:0032280)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|GABA receptor binding (GO:0050811)|guanyl-nucleotide exchange factor activity (GO:0005085)|protein kinase A regulatory subunit binding (GO:0034237)			breast(7)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	63			BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)			GGTAAAAAATAAAATGACGAA	0.294																																					Esophageal Squamous(176;1738 1974 26285 33069 35354)	ENST00000371917.4																			0				breast(7)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	63						c.(2371-2373)Aaa>Gaa		ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited)							36	40	38					20																	47605037		2172	4284	6456	SO:0001583	missense	10564				exocytosis|intracellular signal transduction|regulation of ARF protein signal transduction	cytosol|Golgi membrane	ARF guanyl-nucleotide exchange factor activity	g.chr20:47605037A>G	AF084521	CCDS13411.1	20q13.13	2010-08-20			ENSG00000124198	ENSG00000124198		"A-kinase anchor proteins"	15853	protein-coding gene	gene with protein product	"Brefeldin A-inhibited guanine nucleotide-exchange protein 2"	605371				10212200	Standard	NM_006420		Approved	BIG2	uc002xtx.4	Q9Y6D5	OTTHUMG00000032687	ENST00000371917.4:c.2371A>G	20.37:g.47605037A>G	ENSP00000360985:p.Lys791Glu						p.K791E	NM_006420.2	NP_006411.2	Q9Y6D5	BIG2_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)		18	2371	+			791					Q5TFT9|Q9NTS1	Missense_Mutation	SNP	ENST00000371917.4	37	c.2371A>G	CCDS13411.1	.	.	.	.	.	.	.	.	.	.	A	28.6	4.935889	0.92458	.	.	ENSG00000124198	ENST00000538445;ENST00000371917	T	0.80738	-1.41	5.73	5.73	0.89815	SEC7-like, alpha orthogonal bundle (1);Armadillo-type fold (1);SEC7-like (4);	0.000000	0.85682	D	0.000000	D	0.92867	0.7731	H	0.97516	4.02	0.80722	D	1	D	0.64830	0.994	P	0.62298	0.9	D	0.95236	0.8347	10	0.87932	D	0	.	16.3265	0.82983	1.0:0.0:0.0:0.0	.	791	Q9Y6D5	BIG2_HUMAN	E	791	ENSP00000360985:K791E	ENSP00000360985:K791E	K	+	1	0	ARFGEF2	47038444	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	9.287000	0.95975	2.313000	0.78055	0.455000	0.32223	AAA		0.294	ARFGEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079627.1	NM_006420		5	67	0	0	0	1	0	5	67					G	47605037	A	G	47605037	3	3	386	1	0	0	0	0	1	0	0	0	853	363	13	4	2441	4	ARFGEF2	20	47605037	Missense_Mutation	SNP	A	TCGA-V1-A9OH-01A-11D-A41K-08	14267742	47605037	15420483	60	18972											
C20orf85	128602	broad.mit.edu	37	chr20	56735827	56735827	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gacgatgcgatcagaagctgCaaaggtgcttttgcacgaga	12	8	13	8	3	1	2	1	0	0	2	1	6	1	2	0	1	5	4	0	1	2	2			TCGA-V1-A9OH-01A-11D-A41K-08	TCGA-V1-A9OH-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	447d759f-3770-49ac-8ff4-80ede8b435cd	ea11e1b5-ed5c-47f0-a320-9b8bffa66a4d	g.chr20:56735827C>T	ENST00000371168.3	+	4	424	c.363C>T	c.(361-363)tgC>tgT	p.C121C		NM_178456.2	NP_848551.1	Q9H1P6	CT085_HUMAN	chromosome 20 open reading frame 85	121										kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	13	all_epithelial(3;5.99e-14)|Lung NSC(12;0.000152)|all_lung(29;0.000518)|Melanoma(10;0.118)		BRCA - Breast invasive adenocarcinoma(13;5.53e-12)|Epithelial(14;7.42e-08)|all cancers(14;7.19e-07)			TCAGAAGCTGCAAAGGTGCTT	0.612																																						ENST00000371168.3																			0				kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	13						c.(361-363)tgC>tgT		chromosome 20 open reading frame 85							67	53	58					20																	56735827		2203	4300	6503	SO:0001819	synonymous_variant	128602							g.chr20:56735827C>T	AL354776	CCDS13465.1	20q13.32	2012-10-29			ENSG00000124237	ENSG00000124237			16216	protein-coding gene	gene with protein product	"Low in Lung Cancer 1"						Standard	NM_178456		Approved	bA196N14.1, LLC1	uc002xyv.3	Q9H1P6	OTTHUMG00000032836	ENST00000371168.3:c.363C>T	20.37:g.56735827C>T							p.C121C	NM_178456.2	NP_848551.1	Q9H1P6	CT085_HUMAN	BRCA - Breast invasive adenocarcinoma(13;5.53e-12)|Epithelial(14;7.42e-08)|all cancers(14;7.19e-07)		4	424	+	all_epithelial(3;5.99e-14)|Lung NSC(12;0.000152)|all_lung(29;0.000518)|Melanoma(10;0.118)		121						Silent	SNP	ENST00000371168.3	37	c.363C>T	CCDS13465.1																																																																																				0.612	C20orf85-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079866.2	NM_178456		9	14	0	0	0	1	0	9	14					T	56735827	C	T	56735827	2	4	386	1	0	0	0	0	0	0	0	1	2120	718	25	3		3	C20orf85	20	56735827	Silent	SNP	C	TCGA-V1-A9OH-01A-11D-A41K-08	9130790	56735827	6289693	61	18973											
SAMSN1	64092	broad.mit.edu	37	chr21	15882767	15882767	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggttacttgtaccatctgaaCagcttgttatgccacctgat	9	14	8	10	0	1	2	0	2	1	0	1	2	1	2	3	1	5	4	3	1	4	5			TCGA-V1-A9OH-01A-11D-A41K-08	TCGA-V1-A9OH-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	447d759f-3770-49ac-8ff4-80ede8b435cd	ea11e1b5-ed5c-47f0-a320-9b8bffa66a4d	g.chr21:15882767C>A	ENST00000400566.1	-	5	506	c.425G>T	c.(424-426)tGt>tTt	p.C142F	SAMSN1_ENST00000285670.2_Missense_Mutation_p.C210F|SAMSN1_ENST00000400564.1_Intron	NM_022136.4	NP_071419.3	Q9NSI8	SAMN1_HUMAN	SAM domain, SH3 domain and nuclear localization signals 1	142					negative regulation of adaptive immune response (GO:0002820)|negative regulation of B cell activation (GO:0050869)|negative regulation of peptidyl-tyrosine phosphorylation (GO:0050732)	cell projection (GO:0042995)|cytosol (GO:0005829)|nucleus (GO:0005634)	phosphotyrosine binding (GO:0001784)|poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	24				Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.00118)|Colorectal(24;0.00961)|Lung(58;0.164)		ACCATCTGAACAGCTTGTTAT	0.453																																						ENST00000285670.2																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	24						c.(628-630)tGt>tTt		SAM domain, SH3 domain and nuclear localization signals 1							98	92	94					21																	15882767		2052	4213	6265	SO:0001583	missense	64092				negative regulation of adaptive immune response|negative regulation of B cell activation|negative regulation of peptidyl-tyrosine phosphorylation	cytoplasm|nucleus|ruffle	phosphotyrosine binding	g.chr21:15882767C>A	AF222927	CCDS42906.1, CCDS58786.1, CCDS74774.1	21q11	2013-01-10	2006-12-13		ENSG00000155307	ENSG00000155307		"SAM and SH3 domain containing", "Sterile alpha motif (SAM) domain containing"	10528	protein-coding gene	gene with protein product	"nuclear localization signals, SAM and SH3 domain containing 1", "SAM and SH3 domain containing 2", "hematopoietic adapter-containing SH3 and sterile &#945;-motif (SAM) domains 1", "Src homology domain 3 (SH3)-containing adapter protein SH3 lymphocyte protein 2"	607978				11536050, 11594764	Standard	NM_022136		Approved	NASH1, SASH2, SH3D6B, HACS1, SLy2	uc002yjv.1	Q9NSI8	OTTHUMG00000074317	ENST00000400566.1:c.425G>T	21.37:g.15882767C>A	ENSP00000383411:p.Cys142Phe					SAMSN1_ENST00000400564.1_Intron|SAMSN1_ENST00000400566.1_Missense_Mutation_p.C142F	p.C210F	NM_001256370.1	NP_001243299.1	Q9NSI8	SAMN1_HUMAN		Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.00118)|Colorectal(24;0.00961)|Lung(58;0.164)	6	803	-			142			SH3.		B3KWJ3|F8WAA1|Q8NFF7|Q9C041	Missense_Mutation	SNP	ENST00000400566.1	37	c.629G>T	CCDS42906.1	.	.	.	.	.	.	.	.	.	.	C	17.50	3.406279	0.62288	.	.	ENSG00000155307	ENST00000285670;ENST00000400566	T;T	0.42513	0.97;0.97	5.78	5.78	0.91487	.	0.104030	0.64402	D	0.000003	T	0.66616	0.2807	M	0.70275	2.135	0.50813	D	0.999894	D;D	0.89917	1.0;0.995	D;D	0.91635	0.999;0.919	T	0.66188	-0.5986	10	0.56958	D	0.05	-14.8723	20.012	0.97458	0.0:1.0:0.0:0.0	.	210;142	F8WAA1;Q9NSI8	.;SAMN1_HUMAN	F	210;142	ENSP00000285670:C210F;ENSP00000383411:C142F	ENSP00000285670:C210F	C	-	2	0	SAMSN1	14804638	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	4.428000	0.59894	2.731000	0.93534	0.655000	0.94253	TGT		0.453	SAMSN1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157914.1			7	64	1	0	0.00307968	1	0.00324615	7	64					A	15882767	C	A	15882767	3	1	386	1	0	0	0	0	1	0	0	0	13830	478	17	5	712	5	SAMSN1	21	15882767	Missense_Mutation	SNP	C	TCGA-V1-A9OH-01A-11D-A41K-08		15882767	32247128	62	18974											
BACE2	25825	broad.mit.edu	37	chr21	42613819	42613819	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccccaacgttttctccatgcAgatgtgtggagccggcttgc	6	11	11	13	2	1	1	0	0	1	1	2	2	1	2	4	2	4	3	4	2	1	3			TCGA-V1-A9OH-01A-11D-A41K-08	TCGA-V1-A9OH-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	447d759f-3770-49ac-8ff4-80ede8b435cd	ea11e1b5-ed5c-47f0-a320-9b8bffa66a4d	g.chr21:42613819A>G	ENST00000330333.6	+	4	1155	c.692A>G	c.(691-693)cAg>cGg	p.Q231R	BACE2_ENST00000328735.6_Missense_Mutation_p.Q231R|BACE2_ENST00000347667.5_Missense_Mutation_p.Q231R|BACE2_ENST00000466122.1_3'UTR	NM_012105.3	NP_036237.2	Q9Y5Z0	BACE2_HUMAN	beta-site APP-cleaving enzyme 2	231					membrane protein ectodomain proteolysis (GO:0006509)|negative regulation of amyloid precursor protein biosynthetic process (GO:0042985)|peptide hormone processing (GO:0016486)|proteolysis (GO:0006508)	endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	aspartic-type endopeptidase activity (GO:0004190)			endometrium(2)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14		Prostate(19;1.57e-07)|all_epithelial(19;0.0251)				TTCTCCATGCAGATGTGTGGA	0.537																																						ENST00000330333.6																			0				endometrium(2)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14						c.(691-693)cAg>cGg		beta-site APP-cleaving enzyme 2							172	175	174					21																	42613819		2203	4300	6503	SO:0001583	missense	25825				membrane protein ectodomain proteolysis|negative regulation of amyloid precursor protein biosynthetic process|peptide hormone processing	cell surface|endoplasmic reticulum|endosome|Golgi apparatus|integral to membrane	aspartic-type endopeptidase activity	g.chr21:42613819A>G	AF117892	CCDS13668.1, CCDS13669.1, CCDS13670.1	21q22.3	2011-08-11			ENSG00000182240	ENSG00000182240			934	protein-coding gene	gene with protein product		605668		AEPLC		10965118, 10830953	Standard	NM_138991		Approved	CEAP1, DRAP, ALP56	uc002yyw.3	Q9Y5Z0	OTTHUMG00000086742	ENST00000330333.6:c.692A>G	21.37:g.42613819A>G	ENSP00000332979:p.Gln231Arg					BACE2_ENST00000328735.6_Missense_Mutation_p.Q231R|BACE2_ENST00000466122.1_3'UTR|BACE2_ENST00000347667.4_Missense_Mutation_p.Q231R	p.Q231R	NM_012105.3	NP_036237.2	Q9Y5Z0	BACE2_HUMAN			4	1155	+		Prostate(19;1.57e-07)|all_epithelial(19;0.0251)	231					A8K7P1|Q5DIH8|Q8N2D4|Q9H2V8|Q9NZL1|Q9NZL2|Q9UJT6	Missense_Mutation	SNP	ENST00000330333.6	37	c.692A>G	CCDS13668.1	.	.	.	.	.	.	.	.	.	.	A	29.2	4.983419	0.93044	.	.	ENSG00000182240	ENST00000330333;ENST00000347667;ENST00000328735;ENST00000544566	T;T;T	0.57595	0.39;0.39;0.39	5.53	5.53	0.82687	Peptidase aspartic (1);Peptidase aspartic, catalytic (1);	0.000000	0.85682	D	0.000000	T	0.68118	0.2966	L	0.56124	1.755	0.80722	D	1	D;D;D	0.71674	0.991;0.997;0.998	D;D;D	0.97110	0.995;0.99;1.0	T	0.70085	-0.4969	10	0.59425	D	0.04	.	14.8727	0.70471	1.0:0.0:0.0:0.0	.	231;231;231	Q9Y5Z0-3;Q9Y5Z0-2;Q9Y5Z0	.;.;BACE2_HUMAN	R	231;231;231;136	ENSP00000332979:Q231R;ENSP00000327528:Q231R;ENSP00000333854:Q231R	ENSP00000333854:Q231R	Q	+	2	0	BACE2	41535689	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	8.381000	0.90152	2.107000	0.64212	0.533000	0.62120	CAG		0.537	BACE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195056.1			31	111	0	0	0	1	0	31	111					G	42613819	A	G	42613819	3	3	386	1	0	0	0	0	1	0	0	0	1282	188	7	4	706	4	BACE2	21	42613819	Missense_Mutation	SNP	A	TCGA-V1-A9OH-01A-11D-A41K-08	26731052	42613819	5516076	63	18975											
KLHDC7B	113730	broad.mit.edu	37	chr22	50988343	50988344	+	Frame_Shift_Del	DEL	CT	CT	-																															cctcagtccattcatcctgaCtctgccccctgaggaccggc																										TCGA-V1-A9OH-01A-11D-A41K-08	TCGA-V1-A9OH-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	447d759f-3770-49ac-8ff4-80ede8b435cd	ea11e1b5-ed5c-47f0-a320-9b8bffa66a4d	g.chr22:50988343_50988344delCT	ENST00000395676.2	+	1	1882_1883	c.1748_1749delCT	c.(1747-1749)actfs	p.T583fs	CTA-384D8.31_ENST00000434237.1_RNA	NM_138433.3	NP_612442.2	Q96G42	KLD7B_HUMAN	kelch domain containing 7B	583										central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	14		all_cancers(38;1.53e-10)|all_epithelial(38;1.82e-09)|Breast(42;0.000448)|all_lung(38;0.000665)|Lung NSC(38;0.0104)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)		OV - Ovarian serous cystadenocarcinoma(4;7.49e-69)|all cancers(3;9.79e-66)|Epithelial(4;1.3e-63)|GBM - Glioblastoma multiforme(4;0.000399)|Lung(4;0.125)|BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		TTCATCCTGACTCTGCCCCCTG	0.649																																						ENST00000395676.2																			0				central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	14						c.(1747-1749)afs		kelch domain containing 7B																																				SO:0001589	frameshift_variant	113730							g.chr22:50988343_50988344delCT	BC009980	CCDS14097.2	22q13.33	2006-11-29		2005-12-13	ENSG00000130487	ENSG00000130487			25145	protein-coding gene	gene with protein product							Standard	NM_138433		Approved	MGC16635	uc003bmi.3	Q96G42	OTTHUMG00000150250	ENST00000395676.2:c.1748_1749delCT	22.37:g.50988345_50988346delCT	ENSP00000379034:p.Thr583fs						p.T583fs	NM_138433.3	NP_612442.2	Q96G42	KLD7B_HUMAN		OV - Ovarian serous cystadenocarcinoma(4;7.49e-69)|all cancers(3;9.79e-66)|Epithelial(4;1.3e-63)|GBM - Glioblastoma multiforme(4;0.000399)|Lung(4;0.125)|BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)	1	1882_1883	+		all_cancers(38;1.53e-10)|all_epithelial(38;1.82e-09)|Breast(42;0.000448)|all_lung(38;0.000665)|Lung NSC(38;0.0104)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)	583						Frame_Shift_Del	DEL	ENST00000395676.2	37	c.1748_1749delCT	CCDS14097.2																																																																																				0.649	KLHDC7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317089.2	NM_138433		5	7						5	7	---	---	---	---	-	50988344	CT	-	50988343	7	5	386	1	0	1	0	1	0	0	0	0	8361	565	20	0	1750	0	KLHDC7B	22	50988343	Frame_Shift_Del	DEL	CT	TCGA-V1-A9OH-01A-11D-A41K-08		50988343	316223	64	18976											
SLC25A6	293	broad.mit.edu	37	chrX	1508388	1508388	+	Missense_Mutation	SNP	C	C	A																															caccgccggaggccaggttgCccgcaaagtacctccagaac																										TCGA-V1-A9OH-01A-11D-A41K-08	TCGA-V1-A9OH-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	447d759f-3770-49ac-8ff4-80ede8b435cd	ea11e1b5-ed5c-47f0-a320-9b8bffa66a4d	g.chrX:1508388C>A	ENST00000381401.5	-	2	1058	c.344G>T	c.(343-345)gGc>gTc	p.G115V	SLC25A6_ENST00000475167.1_5'UTR	NM_001636.3	NP_001627.2	P12236	ADT3_HUMAN	solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 6	115					active induction of host immune response by virus (GO:0046732)|ADP transport (GO:0015866)|apoptotic process (GO:0006915)|ATP transport (GO:0015867)|cellular protein metabolic process (GO:0044267)|energy reserve metabolic process (GO:0006112)|modulation by virus of host morphology or physiology (GO:0019048)|protein targeting to mitochondrion (GO:0006626)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|viral life cycle (GO:0019058)|viral process (GO:0016032)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial inner membrane presequence translocase complex (GO:0005744)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP:ADP antiporter activity (GO:0005471)			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(8)|upper_aerodigestive_tract(1)	11		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Clodronate(DB00720)	GGCCAGGTTGCCCGCAAAGTA	0.622																																						ENST00000381401.5																			0				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(8)|upper_aerodigestive_tract(1)	11						c.(343-345)gGc>gTc		solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 6	Clodronate(DB00720)						163	165	165					X																	1508388		2203	4296	6499	SO:0001583	missense	293				active induction of host immune response by virus|apoptosis|energy reserve metabolic process|regulation of insulin secretion|viral infectious cycle	integral to membrane|mitochondrial inner membrane presequence translocase complex	ATP:ADP antiporter activity|protein binding	g.chrX:1508388C>A	AY007135	CCDS14114.1	Xp22.32 and Yp11.3	2013-05-22			ENSG00000169100	ENSG00000169100		"Pseudoautosomal regions / PAR1", "Solute carriers"	10992	protein-coding gene	gene with protein product		300151, 403000		ANT3			Standard	NM_001636		Approved	ANT3Y, MGC17525	uc004cpt.3	P12236	OTTHUMG00000021058	ENST00000381401.5:c.344G>T	X.37:g.1508388C>A	ENSP00000370808:p.Gly115Val					SLC25A6_ENST00000475167.1_5'UTR	p.G115V	NM_001636.3	NP_001627.2	P12236	ADT3_HUMAN			2	1058	-		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)	115					Q96C49	Missense_Mutation	SNP	ENST00000381401.5	37	c.344G>T	CCDS14114.1	.	.	.	.	.	.	.	.	.	.	.	16.70	3.196215	0.58126	.	.	ENSG00000169100	ENST00000381401;ENST00000447786	T	0.78481	-1.18	1.85	1.85	0.25348	Mitochondrial carrier domain (2);	0.000000	0.56097	D	0.000026	T	0.74397	0.3711	N	0.20807	0.61	0.24886	N	0.992195	D	0.58268	0.982	P	0.59171	0.853	T	0.67511	-0.5652	10	0.51188	T	0.08	.	12.0543	0.53524	0.0:1.0:0.0:0.0	.	115	P12236	ADT3_HUMAN	V	115	ENSP00000370808:G115V	ENSP00000370808:G115V	G	-	2	0	SLC25A6	1468388	1.000000	0.71417	0.780000	0.31762	0.649000	0.38597	5.896000	0.69822	0.982000	0.38575	0.402000	0.26972	GGC		0.622	SLC25A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055596.1	NM_001636		32	102	1	0	2.68265e-12	1	3.12309e-12	32	102					A	1508388	C	A	1508388	3	1	386	1	0	0	0	0	1	0	0	0	14513	739	26	5	564	5	SLC25A6	23	1508388	Missense_Mutation	SNP	C	TCGA-V1-A9OH-01A-11D-A41K-08		1508388	153762172	65	18977	95	2									
SLC25A6	293	broad.mit.edu	37	chrX	1508390	1508390	+	Silent	SNP	C	C	G																															ccgccggaggccaggttgccCgcaaagtacctccagaactg																										TCGA-V1-A9OH-01A-11D-A41K-08	TCGA-V1-A9OH-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	447d759f-3770-49ac-8ff4-80ede8b435cd	ea11e1b5-ed5c-47f0-a320-9b8bffa66a4d	g.chrX:1508390C>G	ENST00000381401.5	-	2	1056	c.342G>C	c.(340-342)gcG>gcC	p.A114A	SLC25A6_ENST00000475167.1_5'UTR	NM_001636.3	NP_001627.2	P12236	ADT3_HUMAN	solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 6	114					active induction of host immune response by virus (GO:0046732)|ADP transport (GO:0015866)|apoptotic process (GO:0006915)|ATP transport (GO:0015867)|cellular protein metabolic process (GO:0044267)|energy reserve metabolic process (GO:0006112)|modulation by virus of host morphology or physiology (GO:0019048)|protein targeting to mitochondrion (GO:0006626)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|viral life cycle (GO:0019058)|viral process (GO:0016032)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial inner membrane presequence translocase complex (GO:0005744)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP:ADP antiporter activity (GO:0005471)			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(8)|upper_aerodigestive_tract(1)	11		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Clodronate(DB00720)	CCAGGTTGCCCGCAAAGTACC	0.622																																						ENST00000381401.5																			0				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(8)|upper_aerodigestive_tract(1)	11						c.(340-342)gcG>gcC		solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 6	Clodronate(DB00720)						165	167	166					X																	1508390		2203	4296	6499	SO:0001819	synonymous_variant	293				active induction of host immune response by virus|apoptosis|energy reserve metabolic process|regulation of insulin secretion|viral infectious cycle	integral to membrane|mitochondrial inner membrane presequence translocase complex	ATP:ADP antiporter activity|protein binding	g.chrX:1508390C>G	AY007135	CCDS14114.1	Xp22.32 and Yp11.3	2013-05-22			ENSG00000169100	ENSG00000169100		"Pseudoautosomal regions / PAR1", "Solute carriers"	10992	protein-coding gene	gene with protein product		300151, 403000		ANT3			Standard	NM_001636		Approved	ANT3Y, MGC17525	uc004cpt.3	P12236	OTTHUMG00000021058	ENST00000381401.5:c.342G>C	X.37:g.1508390C>G						SLC25A6_ENST00000475167.1_5'UTR	p.A114A	NM_001636.3	NP_001627.2	P12236	ADT3_HUMAN			2	1056	-		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)	114					Q96C49	Silent	SNP	ENST00000381401.5	37	c.342G>C	CCDS14114.1																																																																																				0.622	SLC25A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055596.1	NM_001636		32	101	0	0	0	1	0	32	101					G	1508390	C	G	1508390	2	3	386	1	0	0	0	0	0	0	0	1	14513	639	23	5		5	SLC25A6	23	1508390	Silent	SNP	C	TCGA-V1-A9OH-01A-11D-A41K-08	2	1508390	153762170	66	18978	95	2									
GLRA2	2742	broad.mit.edu	37	chrX	14599376	14599383	+	Frame_Shift_Del	DEL	TGACTCCC	TGACTCCC	-																															gcgtacagtgagtacccagaTgactccctggacttggaccc																										TCGA-V1-A9OH-01A-11D-A41K-08	TCGA-V1-A9OH-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	447d759f-3770-49ac-8ff4-80ede8b435cd	ea11e1b5-ed5c-47f0-a320-9b8bffa66a4d	g.chrX:14599376_14599383delTGACTCCC	ENST00000218075.4	+	4	872_879	c.342_349delTGACTCCC	c.(340-351)gatgactccctgfs	p.DSL115fs	GLRA2_ENST00000443437.2_Frame_Shift_Del_p.DSL26fs|GLRA2_ENST00000355020.4_Frame_Shift_Del_p.DSL115fs	NM_002063.3	NP_002054.1	P23416	GLRA2_HUMAN	glycine receptor, alpha 2	115					chloride transmembrane transport (GO:1902476)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|neuropeptide signaling pathway (GO:0007218)|synapse assembly (GO:0007416)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	extracellular-glycine-gated chloride channel activity (GO:0016934)|glycine binding (GO:0016594)|transmitter-gated ion channel activity (GO:0022824)			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(22)|ovary(1)|prostate(1)|skin(2)	37	Hepatocellular(33;0.128)				Ethanol(DB00898)|Glycine(DB00145)|Lindane(DB00431)	AGTACCCAGATGACTCCCTGGACTTGGA	0.471																																						ENST00000218075.4																			0				breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(22)|ovary(1)|prostate(1)|skin(2)	37						c.(340-351)gatgfs		glycine receptor, alpha 2	Ethanol(DB00898)|Glycine(DB00145)																																			SO:0001589	frameshift_variant	2742				neuropeptide signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity	g.chrX:14599376_14599383delTGACTCCC		CCDS14160.1, CCDS48085.1, CCDS55371.1	Xp22.2	2012-02-07			ENSG00000101958	ENSG00000101958		"Ligand-gated ion channels / Glycine receptors"	4327	protein-coding gene	gene with protein product		305990		GLR			Standard	NM_002063		Approved		uc010nep.3	P23416	OTTHUMG00000021166	ENST00000218075.4:c.342_349delTGACTCCC	X.37:g.14599376_14599383delTGACTCCC	ENSP00000218075:p.Asp115fs					GLRA2_ENST00000355020.4_Frame_Shift_Del_p.DDSL114fs|GLRA2_ENST00000443437.2_Frame_Shift_Del_p.DDSL25fs	p.DDSL114fs	NM_002063.3	NP_002054.1	P23416	GLRA2_HUMAN			4	872_879	+	Hepatocellular(33;0.128)		114					A8K0J6|B2R6I8|B7Z4F5|J3KQ59|Q53YX7|Q6ICQ0|Q99862	Frame_Shift_Del	DEL	ENST00000218075.4	37	c.342_349delTGACTCCC	CCDS14160.1																																																																																				0.471	GLRA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055829.1			18	40						18	40	---	---	---	---	-	14599383	TGACTCCC	-	14599376	7	5	386	1	0	1	0	1	0	0	0	0	6455	1461	51	0	428	0	GLRA2	23	14599376	Frame_Shift_Del	DEL	TGACTCCC	TCGA-V1-A9OH-01A-11D-A41K-08	13090986	14599376	140671184	67	18979											
PHKA2	5256	broad.mit.edu	37	chrX	18912456	18912456	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	caccagcagctgccggtactCgggctgcggcacgcggttca	6	6	14	15	5	1	0	1	0	0	0	2	0	1	0	2	4	5	6	2	4	1	2			TCGA-V1-A9OH-01A-11D-A41K-08	TCGA-V1-A9OH-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	447d759f-3770-49ac-8ff4-80ede8b435cd	ea11e1b5-ed5c-47f0-a320-9b8bffa66a4d	g.chrX:18912456C>T	ENST00000379942.4	-	32	4068	c.3403G>A	c.(3403-3405)Gag>Aag	p.E1135K	PHKA2-AS1_ENST00000452900.1_RNA|PHKA2_ENST00000481718.1_5'UTR|PHKA2-AS1_ENST00000439295.1_RNA	NM_000292.2	NP_000283.1	P46019	KPB2_HUMAN	phosphorylase kinase, alpha 2 (liver)	1135					carbohydrate metabolic process (GO:0005975)|cellular protein modification process (GO:0006464)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|protein phosphorylation (GO:0006468)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|phosphorylase kinase complex (GO:0005964)|plasma membrane (GO:0005886)	hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)|phosphorylase kinase activity (GO:0004689)			NS(1)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61	Hepatocellular(33;0.183)					TGCCGGTACTCGGGCTGCGGC	0.602																																						ENST00000379942.4																			0				NS(1)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61						c.(3403-3405)Gag>Aag		phosphorylase kinase, alpha 2 (liver)							84	65	71					X																	18912456		2203	4300	6503	SO:0001583	missense	5256				glucose metabolic process|glycogen catabolic process	cytosol|phosphorylase kinase complex|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity	g.chrX:18912456C>T		CCDS14190.1	Xp22.2-p22.1	2009-07-10			ENSG00000044446	ENSG00000044446	2.7.11.19		8926	protein-coding gene	gene with protein product		300798		PHK, PYK		2387090	Standard	NM_000292		Approved		uc004cyv.4	P46019	OTTHUMG00000021222	ENST00000379942.4:c.3403G>A	X.37:g.18912456C>T	ENSP00000369274:p.Glu1135Lys					PHKA2-AS1_ENST00000439295.1_RNA|PHKA2_ENST00000481718.1_5'UTR	p.E1135K	NM_000292.2	NP_000283.1	P46019	KPB2_HUMAN			32	4068	-	Hepatocellular(33;0.183)		1135					A8K1T1|Q6LAJ5|Q7Z6W0|Q96CR3|Q9UDA1	Missense_Mutation	SNP	ENST00000379942.4	37	c.3403G>A	CCDS14190.1	.	.	.	.	.	.	.	.	.	.	C	36	5.606203	0.96626	.	.	ENSG00000044446	ENST00000379942	D	0.94184	-3.37	5.37	5.37	0.77165	.	0.000000	0.85682	D	0.000000	D	0.96846	0.8970	M	0.85197	2.74	0.80722	D	1	D	0.76494	0.999	D	0.66497	0.944	D	0.97520	1.0072	10	0.87932	D	0	-26.0905	18.2057	0.89853	0.0:1.0:0.0:0.0	.	1135	P46019	KPB2_HUMAN	K	1135	ENSP00000369274:E1135K	ENSP00000369274:E1135K	E	-	1	0	PHKA2	18822377	1.000000	0.71417	0.934000	0.37439	0.720000	0.41350	7.731000	0.84895	2.236000	0.73375	0.529000	0.55759	GAG		0.602	PHKA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055960.1	NM_000292		3	32	0	0	0	1	0	3	32					T	18912456	C	T	18912456	3	4	386	1	0	0	0	0	1	0	0	0	11844	893	31	2	312	2	PHKA2	23	18912456	Missense_Mutation	SNP	C	TCGA-V1-A9OH-01A-11D-A41K-08	4313080	18912456	136358104	68	18980											
CYBB	1536	broad.mit.edu	37	chrX	37641374	37641374	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggttgaacgtcttcctctttGtctggtattaccgggtttat	5	18	10	8	2	3	1	0	1	3	0	4	1	4	1	2	3	2	3	2	3	4	7			TCGA-V1-A9OH-01A-11D-A41K-08	TCGA-V1-A9OH-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	447d759f-3770-49ac-8ff4-80ede8b435cd	ea11e1b5-ed5c-47f0-a320-9b8bffa66a4d	g.chrX:37641374G>C	ENST00000378588.4	+	2	146	c.79G>C	c.(79-81)Gtc>Ctc	p.V27L	CYBB_ENST00000536160.1_5'UTR|CYBB_ENST00000545017.1_Intron|TM4SF2_ENST00000465127.1_Intron	NM_000397.3	NP_000388.2	P04839	CY24B_HUMAN	cytochrome b-245, beta polypeptide	27					antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|hydrogen peroxide biosynthetic process (GO:0050665)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interaction with host (GO:0051701)|oxidation-reduction process (GO:0055114)|phagosome maturation (GO:0090382)|respiratory burst (GO:0045730)|response to drug (GO:0042493)|response to nutrient (GO:0007584)|superoxide anion generation (GO:0042554)|superoxide metabolic process (GO:0006801)	dendrite (GO:0030425)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|NADPH oxidase complex (GO:0043020)|neuronal cell body (GO:0043025)|phagocytic vesicle membrane (GO:0030670)|rough endoplasmic reticulum (GO:0005791)	flavin adenine dinucleotide binding (GO:0050660)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|superoxide-generating NADPH oxidase activity (GO:0016175)|voltage-gated ion channel activity (GO:0005244)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(20)|prostate(2)|skin(2)	32					Dextromethorphan(DB00514)	CTTCCTCTTTGTCTGGTATTA	0.413																																						ENST00000378588.4																			0				central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(20)|prostate(2)|skin(2)	32						c.(79-81)Gtc>Ctc		cytochrome b-245, beta polypeptide							207	166	180					X																	37641374		2202	4300	6502	SO:0001583	missense	1536				electron transport chain|inflammatory response|innate immune response|respiratory burst|superoxide anion generation	NADPH oxidase complex	electron carrier activity|flavin adenine dinucleotide binding|heme binding|protein heterodimerization activity|superoxide-generating NADPH oxidase activity|voltage-gated ion channel activity	g.chrX:37641374G>C	X04011	CCDS14242.1	Xp21.1	2014-09-17	2008-07-29		ENSG00000165168	ENSG00000165168		"Cytochrome b genes"	2578	protein-coding gene	gene with protein product		300481	"chronic granulomatous disease"	CGD			Standard	NM_000397		Approved	GP91-PHOX, NOX2	uc004ddr.2	P04839	OTTHUMG00000033175	ENST00000378588.4:c.79G>C	X.37:g.37641374G>C	ENSP00000367851:p.Val27Leu					CYBB_ENST00000536160.1_5'UTR|CYBB_ENST00000545017.1_Intron|TM4SF2_ENST00000465127.1_Intron	p.V27L	NM_000397.3	NP_000388.2	P04839	CY24B_HUMAN			2	146	+			27					A8K138|Q2PP16	Missense_Mutation	SNP	ENST00000378588.4	37	c.79G>C	CCDS14242.1	.	.	.	.	.	.	.	.	.	.	G	10.11	1.261482	0.23051	.	.	ENSG00000165168	ENST00000378588	D	0.95238	-3.65	5.95	3.23	0.37069	.	0.469052	0.23610	N	0.046355	D	0.89798	0.6819	L	0.53249	1.67	0.53005	D	0.999967	B	0.06786	0.001	B	0.08055	0.003	T	0.79711	-0.1689	10	0.22706	T	0.39	.	4.2892	0.10870	0.238:0.0:0.5175:0.2445	.	27	P04839	CY24B_HUMAN	L	27	ENSP00000367851:V27L	ENSP00000367851:V27L	V	+	1	0	CYBB	37526318	1.000000	0.71417	0.761000	0.31378	0.636000	0.38137	0.947000	0.29082	0.248000	0.21435	0.600000	0.82982	GTC		0.413	CYBB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080881.1			4	39	0	0	0	1	0	4	39					C	37641374	G	C	37641374	3	2	386	1	0	0	0	0	1	0	0	0	4133	1377	48	5	85	5	CYBB	23	37641374	Missense_Mutation	SNP	G	TCGA-V1-A9OH-01A-11D-A41K-08	18728918	37641374	117629186	69	18981											
AWAT1	158833	broad.mit.edu	37	chrX	69458062	69458062	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgctccttgattctctttagGtgtgtgctctgtgagccagc	4	16	11	10	0	2	2	0	2	2	0	4	2	3	2	2	1	4	2	2	1	1	4			TCGA-V1-A9OH-01A-11D-A41K-08	TCGA-V1-A9OH-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	447d759f-3770-49ac-8ff4-80ede8b435cd	ea11e1b5-ed5c-47f0-a320-9b8bffa66a4d	g.chrX:69458062G>T	ENST00000374521.3	+	5	502	c.461G>T	c.(460-462)gGt>gTt	p.G154V		NM_001013579.2	NP_001013597.1	Q58HT5	AWAT1_HUMAN	acyl-CoA wax alcohol acyltransferase 1	154					lipid metabolic process (GO:0006629)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	long-chain-alcohol O-fatty-acyltransferase activity (GO:0047196)			breast(2)|central_nervous_system(1)|large_intestine(4)|lung(3)|ovary(4)|skin(1)	15						TTCTCTTTAGGTGTGTGCTCT	0.512																																						ENST00000374521.3																			0				breast(2)|central_nervous_system(1)|large_intestine(4)|lung(3)|ovary(4)|skin(1)	15						c.e5-1		acyl-CoA wax alcohol acyltransferase 1							94	79	84					X																	69458062		2203	4300	6503	SO:0001630	splice_region_variant	158833				lipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	long-chain-alcohol O-fatty-acyltransferase activity	g.chrX:69458062G>T	BC039181	CCDS35321.1	Xq13.1	2010-01-25	2009-02-23	2009-02-23	ENSG00000204195	ENSG00000204195			23252	protein-coding gene	gene with protein product		300924	"diacylglycerol O-acyltransferase 2-like 3"	DGAT2L3		14970677, 15671038	Standard	NM_001013579		Approved		uc004dxy.3	Q58HT5	OTTHUMG00000021773	ENST00000374521.3:c.461-1G>T	X.37:g.69458062G>T							p.G154_splice	NM_001013579.2	NP_001013597.1	Q58HT5	AWAT1_HUMAN			5	502	+			154					Q5JT21|Q6IEE4	Splice_Site	SNP	ENST00000374521.3	37	c.460_splice	CCDS35321.1	.	.	.	.	.	.	.	.	.	.	G	19.90	3.912759	0.72983	.	.	ENSG00000204195	ENST00000374521	T	0.37584	1.19	4.79	4.79	0.61399	.	0.166320	0.41396	D	0.000890	T	0.68577	0.3016	M	0.92459	3.31	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.77770	-0.2463	9	.	.	.	.	15.4878	0.75582	0.0:0.0:1.0:0.0	.	154	Q58HT5	AWAT1_HUMAN	V	154	ENSP00000363645:G154V	.	G	+	2	0	AWAT1	69374787	1.000000	0.71417	0.985000	0.45067	0.866000	0.49608	8.036000	0.88901	2.213000	0.71641	0.529000	0.55759	GGT		0.512	AWAT1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057066.3	NM_001013579	Missense_Mutation	5	24	1	0	0.000602214	1	0.000643462	5	24					T	69458062	G	T	69458062	5	4	386	1	0	0	0	0	0	0	1	0	1234	1275	44	5	479	5	AWAT1	23	69458062	Splice_Site	SNP	G	TCGA-V1-A9OH-01A-11D-A41K-08	31816688	69458062	85812498	70	18982											
AMOT	154796	broad.mit.edu	37	chrX	112024248	112024248	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	acttcgctggccgcatgcacGacagctgctctgtcttgctc	5	11	10	15	3	2	0	0	0	2	0	4	1	2	0	1	1	4	6	1	1	0	2			TCGA-V1-A9OH-01A-11D-A41K-08	TCGA-V1-A9OH-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	447d759f-3770-49ac-8ff4-80ede8b435cd	ea11e1b5-ed5c-47f0-a320-9b8bffa66a4d	g.chrX:112024248G>A	ENST00000524145.1	-	10	2413	c.2339C>T	c.(2338-2340)tCg>tTg	p.S780L	AMOT_ENST00000371962.1_Missense_Mutation_p.S548L|AMOT_ENST00000304758.1_Missense_Mutation_p.S371L|AMOT_ENST00000371959.3_Missense_Mutation_p.S780L|MIR4329_ENST00000582643.1_RNA|AMOT_ENST00000371958.1_Missense_Mutation_p.S548L			Q4VCS5	AMOT_HUMAN	angiomotin	780					actin cytoskeleton organization (GO:0030036)|blood vessel endothelial cell migration (GO:0043534)|cell migration involved in gastrulation (GO:0042074)|cell-cell junction assembly (GO:0007043)|cellular protein localization (GO:0034613)|chemotaxis (GO:0006935)|establishment of cell polarity involved in ameboidal cell migration (GO:0003365)|gastrulation with mouth forming second (GO:0001702)|hippo signaling (GO:0035329)|in utero embryonic development (GO:0001701)|negative regulation of angiogenesis (GO:0016525)|negative regulation of GTPase activity (GO:0034260)|negative regulation of vascular permeability (GO:0043116)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell size (GO:0045793)|positive regulation of embryonic development (GO:0040019)|positive regulation of stress fiber assembly (GO:0051496)|regulation of cell migration (GO:0030334)|regulation of small GTPase mediated signal transduction (GO:0051056)|vasculogenesis (GO:0001570)	actin filament (GO:0005884)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|ruffle (GO:0001726)|stress fiber (GO:0001725)|tight junction (GO:0005923)	angiostatin binding (GO:0043532)|receptor activity (GO:0004872)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	43						CCGCATGCACGACAGCTGCTC	0.542																																						ENST00000371959.3																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	43						c.(2338-2340)tCg>tTg		angiomotin							210	192	198					X																	112024248		2203	4300	6503	SO:0001583	missense	154796				actin cytoskeleton organization|cell-cell junction assembly|negative regulation of angiogenesis|negative regulation of vascular permeability|positive regulation of blood vessel endothelial cell migration|positive regulation of cell size|positive regulation of stress fiber assembly|regulation of cell migration	actin filament|cell surface|cytoplasm|endocytic vesicle|external side of plasma membrane|integral to membrane|lamellipodium|ruffle|stress fiber|tight junction	angiostatin binding|protein binding|receptor activity	g.chrX:112024248G>A	AB028994	CCDS14563.1, CCDS48154.1	Xq23	2006-02-08			ENSG00000126016	ENSG00000126016			17810	protein-coding gene	gene with protein product		300410				11257124, 16043488, 12406577	Standard	NM_001113490		Approved	KIAA1071	uc004epr.3	Q4VCS5	OTTHUMG00000022216	ENST00000524145.1:c.2339C>T	X.37:g.112024248G>A	ENSP00000429013:p.Ser780Leu					AMOT_ENST00000371962.1_Missense_Mutation_p.S548L|AMOT_ENST00000371958.1_Missense_Mutation_p.S548L|AMOT_ENST00000304758.1_Missense_Mutation_p.S371L|AMOT_ENST00000524145.1_Missense_Mutation_p.S780L	p.S780L	NM_001113490.1	NP_001106962.1	Q4VCS5	AMOT_HUMAN			9	2338	-			780					Q504X5|Q9HD27|Q9UPT1	Missense_Mutation	SNP	ENST00000524145.1	37	c.2339C>T	CCDS48154.1	.	.	.	.	.	.	.	.	.	.	G	31	5.084750	0.94100	.	.	ENSG00000126016	ENST00000304758;ENST00000371959;ENST00000371962;ENST00000524145;ENST00000432214;ENST00000371958	T;T;T;T;T	0.38887	1.11;1.98;2.24;1.98;1.73	5.69	5.69	0.88448	Angiomotin, C-terminal (1);	0.123171	0.56097	D	0.000025	T	0.42787	0.1218	L	0.55990	1.75	0.50813	D	0.99989	D	0.53151	0.958	B	0.41917	0.37	T	0.40175	-0.9577	10	0.44086	T	0.13	-10.5099	17.6377	0.88128	0.0:0.0:1.0:0.0	.	780	Q4VCS5	AMOT_HUMAN	L	371;780;548;780;20;548	ENSP00000305557:S371L;ENSP00000361027:S780L;ENSP00000361030:S548L;ENSP00000429013:S780L;ENSP00000361026:S548L	ENSP00000305557:S371L	S	-	2	0	AMOT	111910904	1.000000	0.71417	1.000000	0.80357	0.874000	0.50279	9.593000	0.98250	2.381000	0.81170	0.600000	0.82982	TCG		0.542	AMOT-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000378570.1	NM_133265		5	94	0	0	0	1	0	5	94					A	112024248	G	A	112024248	3	1	386	1	0	0	0	0	1	0	0	0	582	1059	37	2	927	2	AMOT	23	112024248	Missense_Mutation	SNP	G	TCGA-V1-A9OH-01A-11D-A41K-08	42566186	112024248	43246312	71	18983											
AFF2	2334	broad.mit.edu	37	chrX	147733566	147733566	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttaaaaaaagggaatgggagCggaggaatcaagaagtccag	18	5	14	4	1	1	1	1	0	0	1	2	5	2	5	1	4	1	0	1	4	8	1	rs143135907		TCGA-V1-A9OH-01A-11D-A41K-08	TCGA-V1-A9OH-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	447d759f-3770-49ac-8ff4-80ede8b435cd	ea11e1b5-ed5c-47f0-a320-9b8bffa66a4d	g.chrX:147733566C>A	ENST00000370460.2	+	2	573	c.94C>A	c.(94-96)Cgg>Agg	p.R32R	AFF2_ENST00000342251.3_Silent_p.R32R|AFF2_ENST00000370457.5_Silent_p.R32R|AFF2_ENST00000370458.1_Silent_p.R32R	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN	AF4/FMR2 family, member 2	32					brain development (GO:0007420)|learning or memory (GO:0007611)|mRNA processing (GO:0006397)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nuclear speck (GO:0016607)	G-quadruplex RNA binding (GO:0002151)	p.R32W(2)		breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					GGAATGGGAGCGGAGGAATCA	0.368																																						ENST00000370460.2																			2	Substitution - Missense(2)	p.R32W(2)	breast(2)	breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109						c.(94-96)Cgg>Agg		AF4/FMR2 family, member 2							192	184	187					X																	147733566		2203	4300	6503	SO:0001819	synonymous_variant	2334				brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding	g.chrX:147733566C>A	U48436	CCDS14684.1, CCDS55521.1, CCDS76040.1	Xq28	2008-02-05	2005-06-27	2005-06-27	ENSG00000155966	ENSG00000155966			3776	protein-coding gene	gene with protein product		300806	"fragile X mental retardation 2"	FMR2			Standard	NM_002025		Approved	FRAXE	uc004fcp.3	P51816	OTTHUMG00000022613	ENST00000370460.2:c.94C>A	X.37:g.147733566C>A						AFF2_ENST00000342251.3_Silent_p.R32R|AFF2_ENST00000370457.5_Silent_p.R32R|AFF2_ENST00000370458.1_Silent_p.R32R	p.R32R	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN			2	573	+	Acute lymphoblastic leukemia(192;6.56e-05)		32					A2RTY4|B4DXD5|B7WNQ1|B7ZLD6|B7ZLD9|O43786|O60215|P78407|Q13521|Q14323|Q7Z2F7|Q7Z400|Q9UNA5	Silent	SNP	ENST00000370460.2	37	c.94C>A	CCDS14684.1																																																																																				0.368	AFF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058673.2	NM_002025		32	30	1	0	4.39465e-27	1	5.27358e-27	32	30					A	147733566	C	A	147733566	2	1	386	1	0	0	0	0	0	0	0	1	357	759	27	5		5	AFF2	23	147733566	Silent	SNP	C	TCGA-V1-A9OH-01A-11D-A41K-08	35709318	147733566	7536994	72	18984											
SLC30A2	7780	broad.mit.edu	37	chr1	26371585	26371585	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggtcacagtgactgtcaggAcccttctgagcatggcagtg	8	9	14	10	0	3	2	2	2	1	0	3	3	3	3	1	3	1	2	1	3	0	1			TCGA-V1-A9OL-01A-11D-A41K-08	TCGA-V1-A9OL-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10d212ad-7a3d-4bb9-849e-3bcf4fcdf741	8630a7bf-bde9-4726-ac4d-8641b8365de9	g.chr1:26371585A>G	ENST00000374278.3	-	2	390	c.174T>C	c.(172-174)ggT>ggC	p.G58G	SLC30A2_ENST00000498060.1_5'UTR|SLC30A2_ENST00000374276.3_Silent_p.G58G	NM_032513.3	NP_115902.1	Q9BRI3	ZNT2_HUMAN	solute carrier family 30 (zinc transporter), member 2	58					positive regulation of sequestering of zinc ion (GO:0061090)|transmembrane transport (GO:0055085)|zinc ion transport (GO:0006829)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)	cation transmembrane transporter activity (GO:0008324)			cervix(1)|endometrium(2)|kidney(1)|lung(8)|stomach(1)	13		Colorectal(325;3.46e-05)|Lung NSC(340;6.18e-05)|all_lung(284;9.43e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;7.09e-26)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000728)|BRCA - Breast invasive adenocarcinoma(304;0.000969)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00614)|READ - Rectum adenocarcinoma(331;0.0649)		GACTGTCAGGACCCTTCTGAG	0.592																																						ENST00000374278.3																			0				cervix(1)|endometrium(2)|kidney(1)|lung(8)|stomach(1)	13						c.(172-174)ggT>ggC		solute carrier family 30 (zinc transporter), member 2							143	136	139					1																	26371585		2203	4300	6503	SO:0001819	synonymous_variant	7780				positive regulation of sequestering of zinc ion|zinc ion transport	integral to membrane|late endosome|lysosomal membrane	cation transmembrane transporter activity	g.chr1:26371585A>G	AK023491	CCDS272.1, CCDS30644.1	1p35.3	2013-05-22			ENSG00000158014	ENSG00000158014		"Solute carriers"	11013	protein-coding gene	gene with protein product		609617		ZNT2			Standard	NM_001004434		Approved		uc001blg.1	Q9BRI3	OTTHUMG00000007508	ENST00000374278.3:c.174T>C	1.37:g.26371585A>G						SLC30A2_ENST00000498060.1_5'UTR|SLC30A2_ENST00000374276.3_Silent_p.G58G	p.G58G	NM_032513.3	NP_115902.1	Q9BRI3	ZNT2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;7.09e-26)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000728)|BRCA - Breast invasive adenocarcinoma(304;0.000969)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00614)|READ - Rectum adenocarcinoma(331;0.0649)	2	390	-		Colorectal(325;3.46e-05)|Lung NSC(340;6.18e-05)|all_lung(284;9.43e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)	58					Q71RC8	Silent	SNP	ENST00000374278.3	37	c.174T>C	CCDS272.1																																																																																				0.592	SLC30A2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000019742.1	NM_032513		35	70	0	0	0	1	0	35	70					G	26371585	A	G	26371585	2	3	387	1	0	0	0	0	0	0	0	1	14555	262	10	4		4	SLC30A2	1	26371585	Silent	SNP	A	TCGA-V1-A9OL-01A-11D-A41K-08		26371585	222879036	1	18985											
SPTA1	6708	broad.mit.edu	37	chr1	158632635	158632635	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gctctttcagagcttcaaatCggcataccaaggactcttgc	10	11	8	12	1	4	1	2	0	2	1	5	2	4	2	1	2	3	3	1	2	3	4			TCGA-V1-A9OL-01A-11D-A41K-08	TCGA-V1-A9OL-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10d212ad-7a3d-4bb9-849e-3bcf4fcdf741	8630a7bf-bde9-4726-ac4d-8641b8365de9	g.chr1:158632635C>T	ENST00000368147.4	-	17	2501	c.2321G>A	c.(2320-2322)cGa>cAa	p.R774Q		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	774					actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)	p.R774L(1)		NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					AGCTTCAAATCGGCATACCAA	0.478																																						ENST00000368148.3																			1	Substitution - Missense(1)	p.R774L(1)	lung(1)	NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307						c.(2320-2322)cGa>cAa		spectrin, alpha, erythrocytic 1 (elliptocytosis 2)							96	95	96					1																	158632635		1902	4121	6023	SO:0001583	missense	6708				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	g.chr1:158632635C>T	M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"EF-hand domain containing"	11272	protein-coding gene	gene with protein product	"elliptocytosis 2"	182860	"spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.2321G>A	1.37:g.158632635C>T	ENSP00000357129:p.Arg774Gln					SPTA1_ENST00000368147.3_Missense_Mutation_p.R774Q	p.R774Q	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN			17	2501	-	all_hematologic(112;0.0378)		774					Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Missense_Mutation	SNP	ENST00000368147.4	37	c.2321G>A	CCDS41423.1	.	.	.	.	.	.	.	.	.	.	C	9.200	1.028319	0.19512	.	.	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.38077	1.16;1.16	4.41	1.56	0.23342	.	0.295815	0.18537	N	0.138320	T	0.21022	0.0506	M	0.75447	2.3	0.40599	D	0.981562	P	0.46277	0.875	B	0.42188	0.379	T	0.03077	-1.1075	10	0.38643	T	0.18	.	7.21	0.25929	0.0:0.719:0.0:0.281	.	774	P02549	SPTA1_HUMAN	Q	774	ENSP00000357130:R774Q;ENSP00000357129:R774Q	ENSP00000357129:R774Q	R	-	2	0	SPTA1	156899259	0.007000	0.16637	0.220000	0.23810	0.005000	0.04900	0.496000	0.22499	0.154000	0.19237	-0.136000	0.14681	CGA		0.478	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126		26	36	0	0	0	1	0	26	36					T	158632635	C	T	158632635	3	4	387	1	0	0	0	0	1	0	0	0	15115	884	31	2	5082	2	SPTA1	1	158632635	Missense_Mutation	SNP	C	TCGA-V1-A9OL-01A-11D-A41K-08	132261050	158632635	90617986	2	18986											
TNR	7143	broad.mit.edu	37	chr1	175334155	175334155	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccagcctcacctgtggtgaTggagcccacaatgggctcag	8	8	12	13	0	2	1	2	1	0	0	3	2	3	2	4	3	2	1	4	3	1	0			TCGA-V1-A9OL-01A-11D-A41K-08	TCGA-V1-A9OL-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10d212ad-7a3d-4bb9-849e-3bcf4fcdf741	8630a7bf-bde9-4726-ac4d-8641b8365de9	g.chr1:175334155T>C	ENST00000367674.2	-	12	3286	c.2578A>G	c.(2578-2580)Atc>Gtc	p.I860V	TNR_ENST00000263525.2_Missense_Mutation_p.I860V			Q92752	TENR_HUMAN	tenascin R	860	Fibronectin type-III 6. {ECO:0000255|PROSITE-ProRule:PRU00316}.				associative learning (GO:0008306)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|locomotory exploration behavior (GO:0035641)|long-term synaptic potentiation (GO:0060291)|negative regulation of axon extension involved in regeneration (GO:0048692)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of synaptic transmission (GO:0050805)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transmission of nerve impulse (GO:0051971)|synapse organization (GO:0050808)|telencephalon cell migration (GO:0022029)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perineuronal net (GO:0072534)|proteinaceous extracellular matrix (GO:0005578)				NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					CCTGTGGTGATGGAGCCCACA	0.502																																						ENST00000367674.1																			0				NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177						c.(2578-2580)Atc>Gtc		tenascin R							72	72	72					1																	175334155		2203	4300	6503	SO:0001583	missense	7143				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix		g.chr1:175334155T>C	X98085	CCDS1318.1	1q24	2013-02-11	2012-07-12		ENSG00000116147	ENSG00000116147		"Fibrinogen C domain containing", "Fibronectin type III domain containing"	11953	protein-coding gene	gene with protein product	"restrictin", "janusin"	601995				8626505, 8940128	Standard	NM_003285		Approved		uc009wwu.1	Q92752	OTTHUMG00000034876	ENST00000367674.2:c.2578A>G	1.37:g.175334155T>C	ENSP00000356646:p.Ile860Val					TNR_ENST00000263525.2_Missense_Mutation_p.I860V	p.I860V	NM_003285.2	NP_003276.3	Q92752	TENR_HUMAN			12	3286	-	Renal(580;0.146)		860			Fibronectin type-III 6.		C9J563|Q15568|Q5R3G0	Missense_Mutation	SNP	ENST00000367674.2	37	c.2578A>G	CCDS1318.1	.	.	.	.	.	.	.	.	.	.	T	6.584	0.476141	0.12521	.	.	ENSG00000116147	ENST00000367674;ENST00000263525	T;T	0.50813	0.73;0.73	5.91	5.91	0.95273	Fibronectin, type III (2);Immunoglobulin-like fold (1);	0.113069	0.64402	D	0.000009	T	0.24005	0.0581	N	0.04132	-0.27	0.40078	D	0.976107	B	0.22909	0.077	B	0.15052	0.012	T	0.18461	-1.0336	10	0.22109	T	0.4	.	10.3717	0.44058	0.0:0.0731:0.0:0.9269	.	860	Q92752	TENR_HUMAN	V	860	ENSP00000356646:I860V;ENSP00000263525:I860V	ENSP00000263525:I860V	I	-	1	0	TNR	173600778	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.489000	0.60309	2.254000	0.74563	0.533000	0.62120	ATC		0.502	TNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084414.4	NM_003285		21	29	0	0	0	1	0	21	29					C	175334155	T	C	175334155	3	2	387	1	0	0	0	0	1	0	0	0	16335	1464	51	4	1546	4	TNR	1	175334155	Missense_Mutation	SNP	T	TCGA-V1-A9OL-01A-11D-A41K-08	16701520	175334155	73916466	3	18987											
IARS2	55699	broad.mit.edu	37	chr1	220300180	220300180	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aacttcatggtcttatgttcTtccaggtaattcttaaaaat	12	17	5	7	0	4	0	1	0	3	0	5	0	5	0	1	2	1	2	1	2	6	7			TCGA-V1-A9OL-01A-11D-A41K-08	TCGA-V1-A9OL-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10d212ad-7a3d-4bb9-849e-3bcf4fcdf741	8630a7bf-bde9-4726-ac4d-8641b8365de9	g.chr1:220300180T>G	ENST00000302637.5	+	14	1936	c.1832T>G	c.(1831-1833)cTt>cGt	p.L611R	IARS2_ENST00000366922.1_Missense_Mutation_p.L539R	NM_018060.3	NP_060530.3	Q9NSE4	SYIM_HUMAN	isoleucyl-tRNA synthetase 2, mitochondrial	611					gene expression (GO:0010467)|isoleucyl-tRNA aminoacylation (GO:0006428)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|isoleucine-tRNA ligase activity (GO:0004822)			NS(1)|breast(1)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(17)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	51				GBM - Glioblastoma multiforme(131;0.0554)	L-Isoleucine(DB00167)	TCTTATGTTCTTCCAGGTAAT	0.363																																						ENST00000366922.1																			0				NS(1)|breast(1)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(17)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	51						c.(1615-1617)cTt>cGt		isoleucyl-tRNA synthetase 2, mitochondrial	L-Isoleucine(DB00167)						190	178	182					1																	220300180		2203	4300	6503	SO:0001583	missense	55699				isoleucyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|isoleucine-tRNA ligase activity	g.chr1:220300180T>G	AK022665	CCDS1523.1	1q41	2011-07-01	2007-02-26		ENSG00000067704	ENSG00000067704	6.1.1.5	"Aminoacyl tRNA synthetases / Class I"	29685	protein-coding gene	gene with protein product	"isoleucine tRNA ligase 2, mitochondrial"	612801					Standard	NM_018060		Approved	FLJ10326	uc001hmc.3	Q9NSE4	OTTHUMG00000037287	ENST00000302637.5:c.1832T>G	1.37:g.220300180T>G	ENSP00000303279:p.Leu611Arg					IARS2_ENST00000302637.5_Missense_Mutation_p.L611R	p.L539R			Q9NSE4	SYIM_HUMAN		GBM - Glioblastoma multiforme(131;0.0554)	14	1947	+			611					B2RPG8|Q1M2P9|Q6PI85|Q7L439|Q86WU9|Q96D91|Q9H9Q8|Q9NW42	Missense_Mutation	SNP	ENST00000302637.5	37	c.1616T>G	CCDS1523.1	.	.	.	.	.	.	.	.	.	.	T	20.7	4.037137	0.75617	.	.	ENSG00000067704	ENST00000366922;ENST00000302637	T;T	0.52295	0.67;0.67	5.7	4.58	0.56647	Rossmann-like alpha/beta/alpha sandwich fold (1);Aminoacyl-tRNA synthetase, class Ia (1);	0.000000	0.85682	D	0.000000	T	0.70701	0.3254	M	0.86864	2.845	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.74754	-0.3558	10	0.87932	D	0	-3.5317	11.1953	0.48709	0.0:0.0723:0.0:0.9277	.	611	Q9NSE4	SYIM_HUMAN	R	539;611	ENSP00000355889:L539R;ENSP00000303279:L611R	ENSP00000303279:L611R	L	+	2	0	IARS2	218366803	1.000000	0.71417	0.999000	0.59377	0.912000	0.54170	6.711000	0.74675	1.000000	0.39049	0.460000	0.39030	CTT		0.363	IARS2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_018060		37	28	0	0	0	1	0	37	28					G	220300180	T	G	220300180	3	3	387	1	0	0	0	0	1	0	0	0	7474	1609	56	5	1886	5	IARS2	1	220300180	Missense_Mutation	SNP	T	TCGA-V1-A9OL-01A-11D-A41K-08	44966025	220300180	28950441	4	18988											
TGOLN2	10618	broad.mit.edu	37	chr2	85554607	85554607	+	Missense_Mutation	SNP	T	T	C																															tctttgcctccgcacccgacTtgttgggggtgtcttctggg																										TCGA-V1-A9OL-01A-11D-A41K-08	TCGA-V1-A9OL-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10d212ad-7a3d-4bb9-849e-3bcf4fcdf741	8630a7bf-bde9-4726-ac4d-8641b8365de9	g.chr2:85554607T>C	ENST00000409232.3	-	2	309	c.248A>G	c.(247-249)aAg>aGg	p.K83R	TGOLN2_ENST00000444342.2_Missense_Mutation_p.K83R|TGOLN2_ENST00000282120.2_Intron|TGOLN2_ENST00000398263.2_Missense_Mutation_p.K83R|TGOLN2_ENST00000377386.3_Missense_Mutation_p.K83R|TGOLN2_ENST00000409015.1_Missense_Mutation_p.K83R			O43493	TGON2_HUMAN	trans-golgi network protein 2	83	14 X 14 AA tandem repeats.					Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)|transport vesicle (GO:0030133)											CGCACCCGACTTGTTGGGGGT	0.602																																						ENST00000377386.3																			0											c.(247-249)aAg>aGg		trans-golgi network protein 2							243	238	240					2																	85554607		1924	4137	6061	SO:0001583	missense	10618					integral to membrane|nucleus|plasma membrane|trans-Golgi network|transport vesicle	protein binding	g.chr2:85554607T>C	AF027515	CCDS46351.1, CCDS56126.1, CCDS56127.1	2p11.2	2012-06-25			ENSG00000152291	ENSG00000152291			15450	protein-coding gene	gene with protein product	"trans-Golgi network protein (46, 48, 51kD isoforms)"	603062				9422759, 21994457	Standard	NM_001206840		Approved	TGN51, TGN46, TGN48, TGN38, TTGN2	uc021vjw.1	O43493	OTTHUMG00000153017	ENST00000409232.3:c.248A>G	2.37:g.85554607T>C	ENSP00000386443:p.Lys83Arg					TGOLN2_ENST00000409232.3_Missense_Mutation_p.K83R|TGOLN2_ENST00000409015.1_Missense_Mutation_p.K83R|TGOLN2_ENST00000398263.2_Missense_Mutation_p.K83R|TGOLN2_ENST00000444342.2_Missense_Mutation_p.K83R|TGOLN2_ENST00000282120.2_Intron	p.K83R			O43493	TGON2_HUMAN			2	710	-			83			14 X 14 AA tandem repeats.		B2R686|B8ZZ88|D6W5K3|F8WBK2|O15282|O43492|O43499|O43500|O43501|Q53G68|Q53GV2|Q6MZV1|Q6ZTM7|Q8N6T8|Q92760|Q96QL2	Missense_Mutation	SNP	ENST00000409232.3	37	c.248A>G	CCDS56126.1	.	.	.	.	.	.	.	.	.	.	T	4.674	0.125323	0.08931	.	.	ENSG00000152291	ENST00000377386;ENST00000398263;ENST00000409232;ENST00000409015;ENST00000444342	T;T;T;T;T	0.13538	2.69;2.58;2.63;2.7;2.73	2.35	-3.55	0.04639	.	.	.	.	.	T	0.07503	0.0189	N	0.25647	0.755	0.09310	N	1	B;B;B;B	0.17667	0.005;0.011;0.023;0.005	B;B;B;B	0.16289	0.003;0.005;0.015;0.008	T	0.35748	-0.9776	9	0.34782	T	0.22	.	4.1864	0.10400	0.0:0.2308:0.342:0.4271	.	83;83;83;83	O43493;O43493-5;O43493-4;O43493-2	TGON2_HUMAN;.;.;.	R	83	ENSP00000366603:K83R;ENSP00000381312:K83R;ENSP00000386443:K83R;ENSP00000387035:K83R;ENSP00000391190:K83R	ENSP00000366603:K83R	K	-	2	0	TGOLN2	85408118	0.000000	0.05858	0.000000	0.03702	0.029000	0.11900	-2.021000	0.01440	-0.860000	0.04099	-0.639000	0.03973	AAG		0.602	TGOLN2-006	NOVEL	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000329045.2	NM_006464		6	461	0	0	0	1	0	6	461					C	85554607	T	C	85554607	3	2	387	1	0	0	0	0	1	0	0	0	15833	1609	56	4	1077	4	TGOLN2	2	85554607	Missense_Mutation	SNP	T	TCGA-V1-A9OL-01A-11D-A41K-08		85554607	157644766	5	18989	96	2									
TGOLN2	10618	broad.mit.edu	37	chr2	85554616	85554616	+	Missense_Mutation	SNP	G	G	C																															ccgcacccgacttgttggggGtgtcttctggggtctgcgcc																										TCGA-V1-A9OL-01A-11D-A41K-08	TCGA-V1-A9OL-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10d212ad-7a3d-4bb9-849e-3bcf4fcdf741	8630a7bf-bde9-4726-ac4d-8641b8365de9	g.chr2:85554616G>C	ENST00000409232.3	-	2	300	c.239C>G	c.(238-240)aCc>aGc	p.T80S	TGOLN2_ENST00000444342.2_Missense_Mutation_p.T80S|TGOLN2_ENST00000282120.2_Intron|TGOLN2_ENST00000398263.2_Missense_Mutation_p.T80S|TGOLN2_ENST00000377386.3_Missense_Mutation_p.T80S|TGOLN2_ENST00000409015.1_Missense_Mutation_p.T80S			O43493	TGON2_HUMAN	trans-golgi network protein 2	80	14 X 14 AA tandem repeats.					Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)|transport vesicle (GO:0030133)											CTTGTTGGGGGTGTCTTCTGG	0.597																																						ENST00000377386.3																			0											c.(238-240)aCc>aGc		trans-golgi network protein 2							216	215	215					2																	85554616		1937	4148	6085	SO:0001583	missense	10618					integral to membrane|nucleus|plasma membrane|trans-Golgi network|transport vesicle	protein binding	g.chr2:85554616G>C	AF027515	CCDS46351.1, CCDS56126.1, CCDS56127.1	2p11.2	2012-06-25			ENSG00000152291	ENSG00000152291			15450	protein-coding gene	gene with protein product	"trans-Golgi network protein (46, 48, 51kD isoforms)"	603062				9422759, 21994457	Standard	NM_001206840		Approved	TGN51, TGN46, TGN48, TGN38, TTGN2	uc021vjw.1	O43493	OTTHUMG00000153017	ENST00000409232.3:c.239C>G	2.37:g.85554616G>C	ENSP00000386443:p.Thr80Ser					TGOLN2_ENST00000409232.3_Missense_Mutation_p.T80S|TGOLN2_ENST00000409015.1_Missense_Mutation_p.T80S|TGOLN2_ENST00000398263.2_Missense_Mutation_p.T80S|TGOLN2_ENST00000444342.2_Missense_Mutation_p.T80S|TGOLN2_ENST00000282120.2_Intron	p.T80S			O43493	TGON2_HUMAN			2	701	-			80			14 X 14 AA tandem repeats.		B2R686|B8ZZ88|D6W5K3|F8WBK2|O15282|O43492|O43499|O43500|O43501|Q53G68|Q53GV2|Q6MZV1|Q6ZTM7|Q8N6T8|Q92760|Q96QL2	Missense_Mutation	SNP	ENST00000409232.3	37	c.239C>G	CCDS56126.1	.	.	.	.	.	.	.	.	.	.	T	0.001	-3.387884	0.00014	.	.	ENSG00000152291	ENST00000377386;ENST00000398263;ENST00000409232;ENST00000409015;ENST00000444342	T;T;T;T;T	0.09445	3.07;2.98;3.07;3.07;3.08	2.35	-4.69	0.03299	.	.	.	.	.	T	0.01940	0.0061	N	0.00268	-1.735	0.09310	N	0.999998	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.01281	0.0;0.0;0.0;0.0	T	0.39292	-0.9621	9	0.11485	T	0.65	.	7.7138	0.28692	0.0:0.1391:0.3327:0.5282	.	80;80;80;80	O43493;O43493-5;O43493-4;O43493-2	TGON2_HUMAN;.;.;.	S	80	ENSP00000366603:T80S;ENSP00000381312:T80S;ENSP00000386443:T80S;ENSP00000387035:T80S;ENSP00000391190:T80S	ENSP00000366603:T80S	T	-	2	0	TGOLN2	85408127	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-3.198000	0.00561	-2.955000	0.00292	-1.392000	0.01152	ACC		0.597	TGOLN2-006	NOVEL	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000329045.2	NM_006464		6	414	0	0	0	1	0	6	414					C	85554616	G	C	85554616	3	2	387	1	0	0	0	0	1	0	0	0	15833	1261	44	5	1086	5	TGOLN2	2	85554616	Missense_Mutation	SNP	G	TCGA-V1-A9OL-01A-11D-A41K-08	9	85554616	157644757	6	18990	96	2									
MYO7B	4648	broad.mit.edu	37	chr2	128335755	128335755	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	aacgacgccaaggactacgcCcacatccgctcggccatgaa	12	4	9	16	5	0	1	0	1	0	0	2	3	1	2	4	2	2	1	4	2	4	1			TCGA-V1-A9OL-01A-11D-A41K-08	TCGA-V1-A9OL-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10d212ad-7a3d-4bb9-849e-3bcf4fcdf741	8630a7bf-bde9-4726-ac4d-8641b8365de9	g.chr2:128335755C>T	ENST00000409816.2	+	8	929	c.897C>T	c.(895-897)gcC>gcT	p.A299A	MYO7B_ENST00000389524.4_Silent_p.A299A|MYO7B_ENST00000428314.1_Silent_p.A299A			Q6PIF6	MYO7B_HUMAN	myosin VIIB	299	Myosin motor.					extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		AGGACTACGCCCACATCCGCT	0.627																																						ENST00000389524.4																			0				breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75						c.(895-897)gcC>gcT		myosin VIIB							62	69	67					2																	128335755		2126	4222	6348	SO:0001819	synonymous_variant	4648					apical plasma membrane|myosin complex	actin binding|ATP binding|motor activity	g.chr2:128335755C>T		CCDS46405.1	2q21.1	2011-09-27			ENSG00000169994	ENSG00000169994		"Myosins / Myosin superfamily : Class VII"	7607	protein-coding gene	gene with protein product		606541				8022818, 8884266	Standard	NM_001080527		Approved		uc002top.3	Q6PIF6	OTTHUMG00000153419	ENST00000409816.2:c.897C>T	2.37:g.128335755C>T						MYO7B_ENST00000428314.1_Silent_p.A299A|MYO7B_ENST00000409816.2_Silent_p.A299A	p.A299A			Q6PIF6	MYO7B_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0753)	9	950	+	Colorectal(110;0.1)		299			Myosin head-like.		Q14786|Q8TEE1	Silent	SNP	ENST00000409816.2	37	c.897C>T	CCDS46405.1																																																																																				0.627	MYO7B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000331124.3	XM_291001		5	14	0	0	0	1	0	5	14					T	128335755	C	T	128335755	2	4	387	1	0	0	0	0	0	0	0	1	10083	610	22	3		3	MYO7B	2	128335755	Silent	SNP	C	TCGA-V1-A9OL-01A-11D-A41K-08	42781139	128335755	114863618	7	18991											
NEU4	129807	broad.mit.edu	37	chr2	242757477	242757477	+	Nonsense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cgcgtggaccgccgagagtgTtttggcaagatctgccggac	7	8	15	11	5	1	2	0	0	1	2	1	5	1	4	3	3	1	2	3	3	1	2			TCGA-V1-A9OL-01A-11D-A41K-08	TCGA-V1-A9OL-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10d212ad-7a3d-4bb9-849e-3bcf4fcdf741	8630a7bf-bde9-4726-ac4d-8641b8365de9	g.chr2:242757477T>A	ENST00000391969.2	+	5	1269	c.558T>A	c.(556-558)tgT>tgA	p.C186*	NEU4_ENST00000325935.6_Nonsense_Mutation_p.C199*|NEU4_ENST00000404257.1_Nonsense_Mutation_p.C198*|NEU4_ENST00000405370.1_Nonsense_Mutation_p.C186*|NEU4_ENST00000407683.1_Nonsense_Mutation_p.C186*	NM_001167602.1	NP_001161074.1	Q8WWR8	NEUR4_HUMAN	sialidase 4	186					ganglioside catabolic process (GO:0006689)|glycoprotein catabolic process (GO:0006516)|glycosphingolipid metabolic process (GO:0006687)|oligosaccharide catabolic process (GO:0009313)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	lysosomal lumen (GO:0043202)|lysosome (GO:0005764)|mitochondrion (GO:0005739)|organelle inner membrane (GO:0019866)	exo-alpha-(2->3)-sialidase activity (GO:0052794)|exo-alpha-(2->6)-sialidase activity (GO:0052795)|exo-alpha-(2->8)-sialidase activity (GO:0052796)|exo-alpha-sialidase activity (GO:0004308)			breast(1)|lung(10)|prostate(2)|skin(2)	15		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;3.84e-33)|all cancers(36;8.08e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.41e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0825)		GCCGAGAGTGTTTTGGCAAGA	0.677																																						ENST00000391969.2																			0				breast(1)|lung(10)|prostate(2)|skin(2)	15						c.(556-558)tgT>tgA		sialidase 4							85	56	66					2																	242757477		2199	4300	6499	SO:0001587	stop_gained	129807					lysosomal lumen|organelle inner membrane	exo-alpha-sialidase activity|protein binding	g.chr2:242757477T>A	BC012899	CCDS2553.1, CCDS54441.1, CCDS54442.1	2q37.3	2008-02-05			ENSG00000204099	ENSG00000204099			21328	protein-coding gene	gene with protein product		608527					Standard	NM_001167600		Approved		uc010fzr.3	Q8WWR8	OTTHUMG00000133412	ENST00000391969.2:c.558T>A	2.37:g.242757477T>A	ENSP00000375830:p.Cys186*					NEU4_ENST00000405370.1_Nonsense_Mutation_p.C186*|NEU4_ENST00000404257.1_Nonsense_Mutation_p.C198*|NEU4_ENST00000325935.6_Nonsense_Mutation_p.C199*|NEU4_ENST00000407683.1_Nonsense_Mutation_p.C186*	p.C186*	NM_001167602.1	NP_001161074.1	Q8WWR8	NEUR4_HUMAN		Epithelial(32;3.84e-33)|all cancers(36;8.08e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.41e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0825)	5	1269	+		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)	186					A8K056|J3KNJ5|Q96D64	Nonsense_Mutation	SNP	ENST00000391969.2	37	c.558T>A	CCDS54442.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	38|38	7.232604|7.232604	0.98154|0.98154	.|.	.|.	ENSG00000204099|ENSG00000204099	ENST00000407683;ENST00000405370;ENST00000472793;ENST00000423583;ENST00000404257;ENST00000391969;ENST00000325935;ENST00000420288|ENST00000415936;ENST00000426032	.|T;T	.|0.36699	.|1.24;1.25	4.55|4.55	2.15|2.15	0.27550|0.27550	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	.|T	.|0.44329	.|0.1288	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.27773	.|-1.0064	.|6	0.02654|0.62326	T|D	1|0.03	-30.1584|-30.1584	8.1546|8.1546	0.31160|0.31160	0.0:0.6832:0.0:0.3168|0.0:0.6832:0.0:0.3168	.|.	.|.	.|.	.|.	X|D	186;186;196;186;198;186;199;186|101;113	.|ENSP00000397167:V101D;ENSP00000406678:V113D	ENSP00000320318:C199X|ENSP00000397167:V101D	C|V	+|+	3|2	2|0	NEU4|NEU4	242406150|242406150	1.000000|1.000000	0.71417|0.71417	0.979000|0.979000	0.43373|0.43373	0.930000|0.930000	0.56654|0.56654	0.937000|0.937000	0.28951|0.28951	0.122000|0.122000	0.18314|0.18314	-0.497000|-0.497000	0.04613|0.04613	TGT|GTT		0.677	NEU4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257270.2	NM_080741		8	15	0	0	0	1	0	8	15					A	242757477	T	A	242757477	4	1	387	1	0	0	0	0	0	1	0	0	10344	1731	60	5	611	5	NEU4	2	242757477	Nonsense_Mutation	SNP	T	TCGA-V1-A9OL-01A-11D-A41K-08	114421722	242757477	441896	8	18992											
ITGA9	3680	broad.mit.edu	37	chr3	37792013	37792013	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	tcagcatctctttccctaatCgactctcatctggtggtgca	7	14	7	13	1	4	0	2	0	3	0	8	1	5	0	1	2	2	2	1	2	1	2			TCGA-V1-A9OL-01A-11D-A41K-08	TCGA-V1-A9OL-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10d212ad-7a3d-4bb9-849e-3bcf4fcdf741	8630a7bf-bde9-4726-ac4d-8641b8365de9	g.chr3:37792013C>G	ENST00000264741.5	+	23	2750	c.2494C>G	c.(2494-2496)Cga>Gga	p.R832G	AC093415.2_ENST00000449586.1_RNA	NM_002207.2	NP_002198.2	Q13797	ITA9_HUMAN	integrin, alpha 9	832					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|neutrophil chemotaxis (GO:0030593)|wound healing (GO:0042060)	basal plasma membrane (GO:0009925)|integrin alpha9-beta1 complex (GO:0034679)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)	p.R832*(1)		breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(17)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|urinary_tract(1)	44				KIRC - Kidney renal clear cell carcinoma(284;0.165)|Kidney(284;0.197)		TTTCCCTAATCGACTCTCATC	0.488																																						ENST00000264741.5																			1	Substitution - Nonsense(1)	p.R832*(1)	large_intestine(1)	breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(17)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|urinary_tract(1)	44						c.(2494-2496)Cga>Gga		integrin, alpha 9							194	170	178					3																	37792013		2203	4300	6503	SO:0001583	missense	3680				axon guidance|cell adhesion|integrin-mediated signaling pathway	integrin complex	receptor activity	g.chr3:37792013C>G	L24158	CCDS2669.1	3p21.3	2010-03-23			ENSG00000144668	ENSG00000144668		"Integrins"	6145	protein-coding gene	gene with protein product	"integrin, alpha 4-like"	603963				8245132, 8290272	Standard	NM_002207		Approved	RLC, ITGA4L, ALPHA-RLC	uc003chd.3	Q13797	OTTHUMG00000130815	ENST00000264741.5:c.2494C>G	3.37:g.37792013C>G	ENSP00000264741:p.Arg832Gly					AC093415.2_ENST00000449586.1_RNA	p.R832G	NM_002207.2	NP_002198.2	Q13797	ITA9_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.165)|Kidney(284;0.197)	23	2750	+			832					Q14638	Missense_Mutation	SNP	ENST00000264741.5	37	c.2494C>G	CCDS2669.1	.	.	.	.	.	.	.	.	.	.	C	17.63	3.437156	0.62955	.	.	ENSG00000144668	ENST00000264741	T	0.57107	0.42	5.26	5.26	0.73747	Integrin alpha-2 (1);	0.000000	0.85682	D	0.000000	T	0.53786	0.1818	M	0.63428	1.95	0.58432	D	0.999999	P	0.35208	0.49	B	0.35073	0.195	T	0.56848	-0.7911	10	0.48119	T	0.1	.	18.0056	0.89208	0.0:1.0:0.0:0.0	.	832	Q13797	ITA9_HUMAN	G	832	ENSP00000264741:R832G	ENSP00000264741:R832G	R	+	1	2	ITGA9	37767017	1.000000	0.71417	0.551000	0.28230	0.683000	0.39861	4.712000	0.61888	2.616000	0.88540	0.561000	0.74099	CGA		0.488	ITGA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253361.1	NM_002207		23	50	0	0	0	1	0	23	50					G	37792013	C	G	37792013	3	3	387	1	0	0	0	0	1	0	0	0	7883	876	31	5	2584	5	ITGA9	3	37792013	Missense_Mutation	SNP	C	TCGA-V1-A9OL-01A-11D-A41K-08		37792013	160230417	9	18993											
ANK2	287	broad.mit.edu	37	chr4	114251469	114251469	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgcagacacaatgggctcCgaatcattattccacctcgg	11	9	9	12	2	1	1	1	0	0	1	4	3	3	1	3	2	1	2	3	2	3	2			TCGA-V1-A9OL-01A-11D-A41K-08	TCGA-V1-A9OL-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10d212ad-7a3d-4bb9-849e-3bcf4fcdf741	8630a7bf-bde9-4726-ac4d-8641b8365de9	g.chr4:114251469C>T	ENST00000357077.4	+	27	3021	c.2968C>T	c.(2968-2970)Cga>Tga	p.R990*	ANK2_ENST00000506722.1_Nonsense_Mutation_p.R981*|ANK2_ENST00000509550.1_Nonsense_Mutation_p.R199*|ANK2_ENST00000394537.3_Nonsense_Mutation_p.R990*|ANK2_ENST00000264366.6_Nonsense_Mutation_p.R990*	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	990	Interaction with SPTBN1.|ZU5 1. {ECO:0000255|PROSITE- ProRule:PRU00485}.				atrial cardiac muscle cell action potential (GO:0086014)|atrial cardiac muscle cell to AV node cell communication (GO:0086066)|atrial septum development (GO:0003283)|axon guidance (GO:0007411)|cardiac muscle contraction (GO:0060048)|cellular calcium ion homeostasis (GO:0006874)|cellular protein localization (GO:0034613)|membrane depolarization during SA node cell action potential (GO:0086046)|paranodal junction assembly (GO:0030913)|positive regulation of calcium ion transmembrane transporter activity (GO:1901021)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cation channel activity (GO:2001259)|positive regulation of gene expression (GO:0010628)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein localization to cell surface (GO:0034394)|protein localization to endoplasmic reticulum (GO:0070972)|protein localization to M-band (GO:0036309)|protein localization to organelle (GO:0033365)|protein localization to plasma membrane (GO:0072659)|protein localization to T-tubule (GO:0036371)|protein stabilization (GO:0050821)|protein targeting to plasma membrane (GO:0072661)|regulation of calcium ion transmembrane transporter activity (GO:1901019)|regulation of calcium ion transport (GO:0051924)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to methylmercury (GO:0051597)|SA node cell action potential (GO:0086015)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|T-tubule organization (GO:0033292)|ventricular cardiac muscle cell action potential (GO:0086005)	A band (GO:0031672)|basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intracellular (GO:0005622)|M band (GO:0031430)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|potassium channel regulator activity (GO:0015459)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		CAATGGGCTCCGAATCATTAT	0.473																																						ENST00000357077.4																			0				NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248						c.(2968-2970)Cga>Tga		ankyrin 2, neuronal							77	71	73					4																	114251469		2203	4300	6503	SO:0001587	stop_gained	287				axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding	g.chr4:114251469C>T	M37123	CCDS3702.1, CCDS43261.1, CCDS54796.1	4q25-q26	2014-09-17	2003-03-12		ENSG00000145362	ENSG00000145362		"Ankyrin repeat domain containing"	493	protein-coding gene	gene with protein product		106410	"long (electrocardiographic) QT syndrome 4"	LQT4		7485162, 12571597	Standard	NM_001148		Approved		uc003ibe.4	Q01484	OTTHUMG00000132912	ENST00000357077.4:c.2968C>T	4.37:g.114251469C>T	ENSP00000349588:p.Arg990*					ANK2_ENST00000506722.1_Nonsense_Mutation_p.R981*|ANK2_ENST00000509550.1_Nonsense_Mutation_p.R199*|ANK2_ENST00000264366.6_Nonsense_Mutation_p.R990*|ANK2_ENST00000394537.3_Nonsense_Mutation_p.R990*	p.R990*	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)	27	3021	+		Ovarian(17;0.0448)|Hepatocellular(203;0.218)	990			Interaction with SPTBN1.|ZU5.		Q01485|Q08AC7|Q08AC8|Q7Z3L5	Nonsense_Mutation	SNP	ENST00000357077.4	37	c.2968C>T	CCDS3702.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	41|41	8.705537|8.705537	0.98922|0.98922	.|.	.|.	ENSG00000145362|ENSG00000145362	ENST00000514960|ENST00000503271;ENST00000503423;ENST00000506722;ENST00000431447;ENST00000504454;ENST00000394537;ENST00000357077;ENST00000264366;ENST00000343056;ENST00000509550	.|.	.|.	.|.	5.93|5.93	3.98|3.98	0.46160|0.46160	.|.	.|0.000000	.|0.49916	.|D	.|0.000133	T|.	0.42040|.	0.1185|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.30937|.	-0.9961|.	4|.	.|0.02654	.|T	.|1	.|.	15.6511|15.6511	0.77095|0.77095	0.3331:0.6669:0.0:0.0|0.3331:0.6669:0.0:0.0	.|.	.|.	.|.	.|.	L|X	35|969;936;981;69;1005;990;990;990;981;199	.|.	.|ENSP00000264366:R990X	P|R	+|+	2|1	0|2	ANK2|ANK2	114470918|114470918	0.750000|0.750000	0.28316|0.28316	0.990000|0.990000	0.47175|0.47175	0.948000|0.948000	0.59901|0.59901	1.476000|1.476000	0.35420|0.35420	1.444000|1.444000	0.47605|0.47605	0.563000|0.563000	0.77884|0.77884	CCG|CGA		0.473	ANK2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256422.2	NM_001148		10	31	0	0	0	1	0	10	31					T	114251469	C	T	114251469	4	4	387	1	0	0	0	0	0	1	0	0	621	644	23	2	3139	2	ANK2	4	114251469	Nonsense_Mutation	SNP	C	TCGA-V1-A9OL-01A-11D-A41K-08		114251469	76902807	10	18994											
AQPEP	206338	broad.mit.edu	37	chr5	115298662	115298662	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gagctgtggccgcagctgagGcccgacgagcttccggccgg	5	5	17	14	5	0	1	0	1	0	0	1	4	1	1	4	4	3	4	4	4	0	1			TCGA-V1-A9OL-01A-11D-A41K-08	TCGA-V1-A9OL-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10d212ad-7a3d-4bb9-849e-3bcf4fcdf741	8630a7bf-bde9-4726-ac4d-8641b8365de9	g.chr5:115298662G>T	ENST00000357872.4	+	1	472	c.348G>T	c.(346-348)agG>agT	p.R116S	AQPEP_ENST00000395528.2_5'UTR	NM_173800.4	NP_776161.3	Q6Q4G3	AMPQ_HUMAN		116						integral component of membrane (GO:0016021)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)										CGCAGCTGAGGCCCGACGAGC	0.697																																						ENST00000357872.4																			0											c.(346-348)agG>agT									41	47	45					5																	115298662		2202	4298	6500	SO:0001583	missense	0				proteolysis	integral to membrane	metallopeptidase activity|zinc ion binding	g.chr5:115298662G>T																												ENST00000357872.4:c.348G>T	5.37:g.115298662G>T	ENSP00000350541:p.Arg116Ser					AQPEP_ENST00000395528.2_5'UTR	p.R116S	NM_173800.4	NP_776161.3	Q6Q4G3	AMPQ_HUMAN			1	472	+			116					A8K6J0|C9JGD2|Q32MR1|Q4G0I9|Q4G0V2|Q86XA3|Q8NBZ2	Missense_Mutation	SNP	ENST00000357872.4	37	c.348G>T	CCDS4124.1	.	.	.	.	.	.	.	.	.	.	G	0.811	-0.751909	0.03041	.	.	ENSG00000172901	ENST00000357872;ENST00000379578	T	0.03951	3.75	4.71	1.91	0.25777	Peptidase M1, membrane alanine aminopeptidase, N-terminal (1);	0.399189	0.18435	N	0.141301	T	0.01627	0.0052	N	0.00885	-1.115	0.21527	N	0.99966	P	0.43231	0.801	B	0.41374	0.355	T	0.47355	-0.9124	10	0.27785	T	0.31	.	7.2351	0.26066	0.2948:0.0:0.7052:0.0	.	116	Q6Q4G3	AMPQ_HUMAN	S	116	ENSP00000350541:R116S	ENSP00000350541:R116S	R	+	3	2	AC010282.1	115326561	0.000000	0.05858	0.377000	0.26055	0.048000	0.14542	-0.661000	0.05311	0.431000	0.26258	0.650000	0.86243	AGG		0.697	AQPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250852.1			23	38	1	0	6.12954e-19	1	7.18635e-19	23	38					T	115298662	G	T	115298662	3	4	387	1	0	0	0	0	1	0	0	0	834	1194	42	5	350	5	AQPEP	5	115298662	Missense_Mutation	SNP	G	TCGA-V1-A9OL-01A-11D-A41K-08		115298662	65616598	11	18995											
SEMA6A	57556	broad.mit.edu	37	chr5	115783231	115783231	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgccgttgtgcatgagtggcGtgaggatggcctccggcttt	4	12	16	9	3	0	2	0	2	0	0	1	3	1	3	3	4	2	3	3	4	0	2			TCGA-V1-A9OL-01A-11D-A41K-08	TCGA-V1-A9OL-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10d212ad-7a3d-4bb9-849e-3bcf4fcdf741	8630a7bf-bde9-4726-ac4d-8641b8365de9	g.chr5:115783231G>A	ENST00000343348.6	-	19	2958	c.2171C>T	c.(2170-2172)aCg>aTg	p.T724M	SEMA6A_ENST00000503865.1_Missense_Mutation_p.T103M|CTB-118N6.3_ENST00000508640.1_RNA|SEMA6A_ENST00000510263.1_Missense_Mutation_p.T724M|CTB-118N6.3_ENST00000510682.1_RNA|CTB-118N6.3_ENST00000512128.1_RNA|SEMA6A_ENST00000282394.6_Missense_Mutation_p.T201M|CTB-118N6.3_ENST00000514214.1_RNA|CTB-118N6.3_ENST00000508424.1_RNA|SEMA6A_ENST00000257414.8_Missense_Mutation_p.T741M|SEMA6A_ENST00000513137.1_Missense_Mutation_p.T151M	NM_020796.3	NP_065847	Q9H2E6	SEM6A_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6A	724					apoptotic process (GO:0006915)|axon guidance (GO:0007411)|cell surface receptor signaling pathway (GO:0007166)|centrosome localization (GO:0051642)|cytoskeleton organization (GO:0007010)|nervous system development (GO:0007399)|neuron migration (GO:0001764)|organ morphogenesis (GO:0009887)|positive regulation of neuron migration (GO:2001224)|semaphorin-plexin signaling pathway (GO:0071526)	axon (GO:0030424)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	transmembrane signaling receptor activity (GO:0004888)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31		all_cancers(142;0.00316)|all_epithelial(76;5.71e-05)|Prostate(80;0.00845)|Ovarian(225;0.0796)|Lung NSC(810;0.171)|all_lung(232;0.203)		OV - Ovarian serous cystadenocarcinoma(64;1.59e-08)|Epithelial(69;2e-08)|all cancers(49;5.7e-08)|COAD - Colon adenocarcinoma(49;0.151)		CATGAGTGGCGTGAGGATGGC	0.632																																						ENST00000343348.6																			0				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31						c.(2170-2172)aCg>aTg		sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6A							162	173	169					5																	115783231		2193	4290	6483	SO:0001583	missense	57556				apoptosis|axon guidance|cell surface receptor linked signaling pathway|cytoskeleton organization|organ morphogenesis	axon|integral to membrane|plasma membrane	receptor activity	g.chr5:115783231G>A	AB037789	CCDS47256.1, CCDS75288.1	5q23.1	2014-07-29			ENSG00000092421			"Semaphorins"	10738	protein-coding gene	gene with protein product	"sema VIa"	605885		SEMAQ		9204478, 10993894	Standard	XM_006714663		Approved	KIAA1368, SEMA6A1, SEMA, HT018	uc010jck.3	Q9H2E6	OTTHUMG00000162987	ENST00000343348.6:c.2171C>T	5.37:g.115783231G>A	ENSP00000345512:p.Thr724Met					SEMA6A_ENST00000510263.1_Missense_Mutation_p.T724M|SEMA6A_ENST00000503865.1_Missense_Mutation_p.T103M|SEMA6A_ENST00000282394.6_Missense_Mutation_p.T201M|SEMA6A_ENST00000257414.8_Missense_Mutation_p.T741M|SEMA6A_ENST00000513137.1_Missense_Mutation_p.T151M	p.T724M	NM_020796.3	NP_065847.1	Q9H2E6	SEM6A_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;1.59e-08)|Epithelial(69;2e-08)|all cancers(49;5.7e-08)|COAD - Colon adenocarcinoma(49;0.151)	19	2958	-		all_cancers(142;0.00316)|all_epithelial(76;5.71e-05)|Prostate(80;0.00845)|Ovarian(225;0.0796)|Lung NSC(810;0.171)|all_lung(232;0.203)	724					Q9P2H9	Missense_Mutation	SNP	ENST00000343348.6	37	c.2171C>T	CCDS47256.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.05|18.05	3.536500|3.536500	0.65085|0.65085	.|.	.|.	ENSG00000092421|ENSG00000092421	ENST00000515129|ENST00000343348;ENST00000257414;ENST00000513137;ENST00000282394;ENST00000503865;ENST00000510263	.|T;T;T;T;T;T	.|0.55234	.|2.06;2.09;0.53;2.44;0.61;2.06	4.85|4.85	4.85|4.85	0.62838|0.62838	.|.	.|0.183477	.|0.47852	.|D	.|0.000209	T|T	0.70833|0.70833	0.3269|0.3269	M|M	0.64997|0.64997	1.995|1.995	0.80722|0.80722	D|D	1|1	.|D;D;D;D;D;D	.|0.89917	.|1.0;1.0;1.0;1.0;1.0;1.0	.|D;D;D;D;D;D	.|0.91635	.|0.997;0.977;0.999;0.997;0.999;0.998	T|T	0.74808|0.74808	-0.3539|-0.3539	5|10	.|0.87932	.|D	.|0	.|.	17.5933|17.5933	0.88004|0.88004	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|103;724;268;741;201;151	.|E9PDV9;Q9H2E6;Q96SM8;Q9H2E6-2;E7ERF3;B3KU01	.|.;SEM6A_HUMAN;.;.;.;.	C|M	239|724;741;151;201;103;724	.|ENSP00000345512:T724M;ENSP00000257414:T741M;ENSP00000422997:T151M;ENSP00000282394:T201M;ENSP00000425364:T103M;ENSP00000424388:T724M	.|ENSP00000257414:T741M	R|T	-|-	1|2	0|0	SEMA6A|SEMA6A	115811130|115811130	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.990000|0.990000	0.78478|0.78478	9.372000|9.372000	0.97165|0.97165	2.244000|2.244000	0.73946|0.73946	0.603000|0.603000	0.83216|0.83216	CGC|ACG		0.632	SEMA6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371270.1	NM_020796		5	199	0	0	0	1	0	5	199					A	115783231	G	A	115783231	3	1	387	1	0	0	0	0	1	0	0	0	14039	1145	40	1	925	1	SEMA6A	5	115783231	Missense_Mutation	SNP	G	TCGA-V1-A9OL-01A-11D-A41K-08	484569	115783231	65132029	12	18996											
SLC22A5	6584	broad.mit.edu	37	chr5	131722816	131722816	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaagccaatgggattgttgtGccttccactatctttgaccc	9	13	8	11	0	1	1	0	1	1	0	2	2	2	2	4	1	2	1	4	1	3	5			TCGA-V1-A9OL-01A-11D-A41K-08	TCGA-V1-A9OL-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10d212ad-7a3d-4bb9-849e-3bcf4fcdf741	8630a7bf-bde9-4726-ac4d-8641b8365de9	g.chr5:131722816G>T	ENST00000245407.3	+	5	1145	c.924G>T	c.(922-924)gtG>gtT	p.V308V	SLC22A5_ENST00000435065.2_Silent_p.V332V	NM_003060.3	NP_003051.1	O76082	S22A5_HUMAN	solute carrier family 22 (organic cation/carnitine transporter), member 5	308					carnitine transmembrane transport (GO:1902603)|carnitine transport (GO:0015879)|drug transmembrane transport (GO:0006855)|drug transport (GO:0015893)|positive regulation of intestinal epithelial structure maintenance (GO:0060731)|quaternary ammonium group transport (GO:0015697)|quorum sensing involved in interaction with host (GO:0052106)|sodium ion transport (GO:0006814)|sodium-dependent organic cation transport (GO:0070715)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	antibiotic transporter activity (GO:0042895)|ATP binding (GO:0005524)|carnitine transmembrane transporter activity (GO:0015226)|drug transmembrane transporter activity (GO:0015238)|PDZ domain binding (GO:0030165)|quaternary ammonium group transmembrane transporter activity (GO:0015651)|symporter activity (GO:0015293)			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|stomach(1)	8		all_cancers(142;0.0751)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		Acetylcarnitine(DB08842)|Aminohippurate(DB00345)|Amphetamine(DB00182)|Ampicillin(DB00415)|Azidocillin(DB08795)|Benzylpenicillin(DB01053)|Cefadroxil(DB01140)|Cefalotin(DB00456)|Cefdinir(DB00535)|Cefepime(DB01413)|Cefixime(DB00671)|Cefradine(DB01333)|Ceftazidime(DB00438)|Cephalexin(DB00567)|Cephaloglycin(DB00689)|Choline(DB00122)|Cimetidine(DB00501)|Clonidine(DB00575)|Creatine(DB00148)|Cyclacillin(DB01000)|Dactinomycin(DB00970)|Desipramine(DB01151)|Diphenhydramine(DB01075)|Dopamine(DB00988)|Epinephrine(DB00668)|Furosemide(DB00695)|Guanidine(DB00536)|Histamine Phosphate(DB00667)|Ipratropium bromide(DB00332)|L-Arginine(DB00125)|L-Carnitine(DB00583)|Lidocaine(DB00281)|Lomefloxacin(DB00978)|Mepyramine(DB06691)|Methamphetamine(DB01577)|Niacin(DB00627)|Nicotine(DB00184)|Norepinephrine(DB00368)|Norfloxacin(DB01059)|Ofloxacin(DB01165)|Probenecid(DB01032)|Procainamide(DB01035)|Quinidine(DB00908)|Quinine(DB00468)|Sparfloxacin(DB01208)|Thiamine(DB00152)|Tiotropium(DB01409)|Valproic Acid(DB00313)|Verapamil(DB00661)	GGATTGTTGTGCCTTCCACTA	0.557											OREG0016767	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000245407.3																			0				NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|stomach(1)	8						c.(922-924)gtG>gtT		solute carrier family 22 (organic cation/carnitine transporter), member 5	L-Carnitine(DB00583)						303	256	272					5																	131722816		2203	4300	6503	SO:0001819	synonymous_variant	6584				positive regulation of intestinal epithelial structure maintenance|quorum sensing involved in interaction with host|sodium ion transport|sodium-dependent organic cation transport	apical plasma membrane|brush border membrane|integral to membrane	ATP binding|carnitine transporter activity|PDZ domain binding|symporter activity	g.chr5:131722816G>T	AF057164	CCDS4154.1	5q23.3	2013-05-22	2008-01-11		ENSG00000197375	ENSG00000197375		"Solute carriers"	10969	protein-coding gene	gene with protein product		603377		CDSP		9618255, 9916797, 9685390	Standard	NM_003060		Approved	OCTN2, SCD	uc003kww.4	O76082	OTTHUMG00000059634	ENST00000245407.3:c.924G>T	5.37:g.131722816G>T			OREG0016767	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1589	SLC22A5_ENST00000435065.2_Silent_p.V332V	p.V308V	NM_003060.3	NP_003051.1	O76082	S22A5_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		5	1145	+		all_cancers(142;0.0751)|Breast(839;0.198)	308					A2Q0V1|B2R844|D3DQ87|Q6ZQZ8|Q96EH6	Silent	SNP	ENST00000245407.3	37	c.924G>T	CCDS4154.1																																																																																				0.557	SLC22A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132631.1	NM_003060		9	189	1	0	1.76689e-08	1	1.90712e-08	9	189					T	131722816	G	T	131722816	2	4	387	1	0	0	0	0	0	0	0	1	14457	1306	46	5		5	SLC22A5	5	131722816	Silent	SNP	G	TCGA-V1-A9OL-01A-11D-A41K-08	15939585	131722816	49192444	13	18997											
FAM71B	153745	broad.mit.edu	37	chr5	156592716	156592716	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccgtgtgtcagaagagggaCacaactgcagataaaaagta	16	6	11	8	1	1	3	1	0	0	3	1	4	1	4	1	1	2	2	1	1	6	2			TCGA-V1-A9OL-01A-11D-A41K-08	TCGA-V1-A9OL-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10d212ad-7a3d-4bb9-849e-3bcf4fcdf741	8630a7bf-bde9-4726-ac4d-8641b8365de9	g.chr5:156592716C>A	ENST00000302938.4	-	1	559	c.464G>T	c.(463-465)tGt>tTt	p.C155F		NM_130899.2	NP_570969.2	Q8TC56	FA71B_HUMAN	family with sequence similarity 71, member B	155						nucleus (GO:0005634)				NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			AGAAGAGGGACACAACTGCAG	0.478																																						ENST00000302938.4																			0				NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68						c.(463-465)tGt>tTt		family with sequence similarity 71, member B							118	122	120					5																	156592716		2203	4300	6503	SO:0001583	missense	153745					nucleus		g.chr5:156592716C>A		CCDS4335.1	5q33.3	2005-08-09			ENSG00000170613	ENSG00000170613			28397	protein-coding gene	gene with protein product						12477932	Standard	NM_130899		Approved	MGC26988	uc003lwn.3	Q8TC56	OTTHUMG00000130246	ENST00000302938.4:c.464G>T	5.37:g.156592716C>A	ENSP00000305596:p.Cys155Phe						p.C155F	NM_130899.2	NP_570969.2	Q8TC56	FA71B_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		1	559	-	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	155					Q1EDD9|Q8TC64|Q96LY8	Missense_Mutation	SNP	ENST00000302938.4	37	c.464G>T	CCDS4335.1	.	.	.	.	.	.	.	.	.	.	C	16.73	3.202973	0.58234	.	.	ENSG00000170613	ENST00000302938	T	0.19250	2.16	4.56	4.56	0.56223	.	0.242105	0.37136	N	0.002236	T	0.47746	0.1462	M	0.82056	2.57	0.43798	D	0.996347	D	0.76494	0.999	D	0.85130	0.997	T	0.51236	-0.8731	10	0.66056	D	0.02	-9.0875	13.5619	0.61795	0.0:1.0:0.0:0.0	.	155	Q8TC56	FA71B_HUMAN	F	155	ENSP00000305596:C155F	ENSP00000305596:C155F	C	-	2	0	FAM71B	156525294	0.996000	0.38824	0.998000	0.56505	0.814000	0.46013	2.520000	0.45554	2.469000	0.83416	0.655000	0.94253	TGT		0.478	FAM71B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252570.2	NM_130899		38	63	1	0	1.60099e-16	1	1.8452e-16	38	63					A	156592716	C	A	156592716	3	1	387	1	0	0	0	0	1	0	0	0	5608	478	17	5	1361	5	FAM71B	5	156592716	Missense_Mutation	SNP	C	TCGA-V1-A9OL-01A-11D-A41K-08	24869900	156592716	24322544	14	18998											
COL21A1	81578	broad.mit.edu	37	chr6	55932100	55932100	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gcaaacaacatacctgaataCctttttcaccttgatttcct	12	14	3	12	0	1	2	1	2	0	0	2	2	2	2	4	0	4	1	4	0	5	6			TCGA-V1-A9OL-01A-11D-A41K-08	TCGA-V1-A9OL-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10d212ad-7a3d-4bb9-849e-3bcf4fcdf741	8630a7bf-bde9-4726-ac4d-8641b8365de9	g.chr6:55932100C>A	ENST00000244728.5	-	23	2517	c.2120G>T	c.(2119-2121)gGt>gTt	p.G707V	COL21A1_ENST00000370819.1_Missense_Mutation_p.G704V|COL21A1_ENST00000370808.2_Missense_Mutation_p.G107V|COL21A1_ENST00000535941.1_Missense_Mutation_p.G707V|COL21A1_ENST00000467045.1_5'UTR	NM_030820.3	NP_110447.2	Q96P44	COLA1_HUMAN	collagen, type XXI, alpha 1	707	Collagen-like 4.				extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				breast(1)|endometrium(1)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|prostate(2)	41	Lung NSC(77;0.0483)		LUSC - Lung squamous cell carcinoma(124;0.181)			TACCTGAATACCTTTTTCACC	0.294																																						ENST00000244728.5																			0				breast(1)|endometrium(1)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|prostate(2)	41						c.(2119-2121)gGt>gTt		collagen, type XXI, alpha 1							95	91	92					6																	55932100		1811	4078	5889	SO:0001583	missense	0				cell adhesion	collagen|cytoplasm	structural molecule activity	g.chr6:55932100C>A	AF330693	CCDS55025.1	6p12.3-p11.2	2013-01-16			ENSG00000124749	ENSG00000124749		"Collagens"	17025	protein-coding gene	gene with protein product		610002				11566190	Standard	XR_241922		Approved		uc003pcs.3	Q96P44	OTTHUMG00000014907	ENST00000244728.5:c.2120G>T	6.37:g.55932100C>A	ENSP00000244728:p.Gly707Val					COL21A1_ENST00000370819.1_Missense_Mutation_p.G704V|COL21A1_ENST00000370808.2_Missense_Mutation_p.G107V|COL21A1_ENST00000467045.1_5'UTR|COL21A1_ENST00000535941.1_Missense_Mutation_p.G707V	p.G707V	NM_030820.3	NP_110447.2	Q96P44	COLA1_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.181)		23	2517	-	Lung NSC(77;0.0483)		707			Collagen-like 4.		A6NIX5|B2R8J9|Q49A51|Q71RF4|Q8WXV8|Q9H0V3	Missense_Mutation	SNP	ENST00000244728.5	37	c.2120G>T	CCDS55025.1	.	.	.	.	.	.	.	.	.	.	C	15.33	2.801354	0.50315	.	.	ENSG00000124749	ENST00000244728;ENST00000370819;ENST00000535941;ENST00000370811;ENST00000370808	D;D;D;D	0.99637	-6.29;-5.89;-6.29;-6.29	4.99	4.99	0.66335	.	0.000000	0.52532	U	0.000064	D	0.99854	0.9932	H	0.99011	4.4	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.96344	0.9253	10	0.87932	D	0	.	17.8895	0.88867	0.0:1.0:0.0:0.0	.	107;707	Q96P44-2;Q96P44	.;COLA1_HUMAN	V	707;704;707;704;107	ENSP00000244728:G707V;ENSP00000359855:G704V;ENSP00000444384:G707V;ENSP00000359844:G107V	ENSP00000244728:G707V	G	-	2	0	COL21A1	56040059	1.000000	0.71417	0.999000	0.59377	0.986000	0.74619	5.166000	0.64965	2.302000	0.77476	0.563000	0.77884	GGT		0.294	COL21A1-001	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041004.2			13	22	1	0	2.62699e-14	1	2.92845e-14	13	22					A	55932100	C	A	55932100	3	1	387	1	0	0	0	0	1	0	0	0	3680	507	18	5	785	5	COL21A1	6	55932100	Missense_Mutation	SNP	C	TCGA-V1-A9OL-01A-11D-A41K-08		55932100	115182967	15	18999											
CDK14	5218	broad.mit.edu	37	chr7	90356069	90356069	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatgcttgcattaactttaaGacctcctccactggcaaaga	13	11	6	11	0	0	2	0	0	0	2	2	2	2	2	3	1	3	3	3	1	4	4			TCGA-V1-A9OL-01A-11D-A41K-08	TCGA-V1-A9OL-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10d212ad-7a3d-4bb9-849e-3bcf4fcdf741	8630a7bf-bde9-4726-ac4d-8641b8365de9	g.chr7:90356069G>T	ENST00000380050.3	+	3	443	c.312G>T	c.(310-312)aaG>aaT	p.K104N	CDK14_ENST00000406263.1_Missense_Mutation_p.K58N|CDK14_ENST00000265741.3_Missense_Mutation_p.K86N|CDK14_ENST00000436577.2_Missense_Mutation_p.R7I			O94921	CDK14_HUMAN	cyclin-dependent kinase 14	104					cell division (GO:0051301)|G2/M transition of mitotic cell cycle (GO:0000086)|regulation of canonical Wnt signaling pathway (GO:0060828)|regulation of cell cycle (GO:0051726)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|cytoplasmic cyclin-dependent protein kinase holoenzyme complex (GO:0000308)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cyclin binding (GO:0030332)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)			breast(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(1)|lung(12)|ovary(1)|skin(4)	32						TTAACTTTAAGACCTCCTCCA	0.453																																					GBM(83;1228 1256 8311 16577 31299)	ENST00000406263.1																			0				breast(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(1)|lung(12)|ovary(1)|skin(4)	32						c.(172-174)aaG>aaT		cyclin-dependent kinase 14							108	96	100					7																	90356069		2203	4299	6502	SO:0001583	missense	5218				cell division|G2/M transition of mitotic cell cycle|regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	cytoplasmic cyclin-dependent protein kinase holoenzyme complex|nucleus|plasma membrane	ATP binding|cyclin binding|cyclin-dependent protein kinase activity	g.chr7:90356069G>T		CCDS5619.1, CCDS75626.1, CCDS75627.1, CCDS75628.1	7q21-q22	2011-11-08	2009-12-16	2009-12-16	ENSG00000058091	ENSG00000058091		"Cyclin-dependent kinases"	8883	protein-coding gene	gene with protein product		610679	"PFTAIRE protein kinase 1"	PFTK1		9202329, 11313143, 19884882	Standard	XM_005250436		Approved	PFTAIRE1	uc003ukz.1	O94921	OTTHUMG00000023649	ENST00000380050.3:c.312G>T	7.37:g.90356069G>T	ENSP00000369390:p.Lys104Asn					CDK14_ENST00000265741.3_Missense_Mutation_p.K86N|CDK14_ENST00000380050.3_Missense_Mutation_p.K104N|CDK14_ENST00000436577.2_Missense_Mutation_p.R7I	p.K58N			O94921	CDK14_HUMAN			2	616	+			104					A4D1E6|A6NK51|A8WFP6|B4DHG5|B4DNM2|Q75N06|Q75N22|Q8N764|Q9H3D7|Q9UDR0	Missense_Mutation	SNP	ENST00000380050.3	37	c.174G>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.04|16.04	3.009123|3.009123	0.54361|0.54361	.|.	.|.	ENSG00000058091|ENSG00000058091	ENST00000449528;ENST00000446224;ENST00000430760;ENST00000456689;ENST00000380050;ENST00000446790;ENST00000265741;ENST00000406263|ENST00000436577	T;T;T;T;T;T;T|T	0.71103|0.71934	2.18;2.18;2.18;2.18;-0.54;-0.53;-0.52|-0.61	5.29|5.29	4.39|4.39	0.52855|0.52855	.|.	0.000000|.	0.64402|.	D|.	0.000001|.	T|T	0.56108|0.56108	0.1963|0.1963	N|N	0.24115|0.24115	0.695|0.695	0.41309|0.41309	D|D	0.98709|0.98709	D;D|B	0.61080|0.29085	0.989;0.981|0.232	D;D|B	0.72625|0.26517	0.978;0.966|0.07	T|T	0.57797|0.57797	-0.7749|-0.7749	10|9	0.28530|0.66056	T|D	0.3|0.02	-14.906|-14.906	11.1706|11.1706	0.48569|0.48569	0.163:0.0:0.837:0.0|0.163:0.0:0.837:0.0	.|.	86;104|7	O94921-2;O94921|E7EUK8	.;CDK14_HUMAN|.	N|I	58;58;58;58;104;58;86;58|7	ENSP00000393616:K58N;ENSP00000410770:K58N;ENSP00000394570:K58N;ENSP00000406848:K58N;ENSP00000369390:K104N;ENSP00000265741:K86N;ENSP00000385034:K58N|ENSP00000398936:R7I	ENSP00000265741:K86N|ENSP00000398936:R7I	K|R	+|+	3|2	2|0	CDK14|CDK14	90194005|90194005	1.000000|1.000000	0.71417|0.71417	0.939000|0.939000	0.37840|0.37840	0.993000|0.993000	0.82548|0.82548	3.231000|3.231000	0.51294|0.51294	1.200000|1.200000	0.43188|0.43188	0.563000|0.563000	0.77884|0.77884	AAG|AGA		0.453	CDK14-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000059970.5	NM_012395		22	43	1	0	1.10513e-12	1	1.21208e-12	22	43					T	90356069	G	T	90356069	3	4	387	1	0	0	0	0	1	0	0	0	3130	933	33	5	264	5	CDK14	7	90356069	Missense_Mutation	SNP	G	TCGA-V1-A9OL-01A-11D-A41K-08		90356069	68782594	16	19000											
SSPO	23145	broad.mit.edu	37	chr7	149492709	149492709	+	RNA	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	agcagcaatggtctacactgGcatgactatcgtgacctcct	10	10	9	12	1	1	2	0	2	1	0	3	2	2	2	2	2	3	3	2	2	3	2			TCGA-V1-A9OL-01A-11D-A41K-08	TCGA-V1-A9OL-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10d212ad-7a3d-4bb9-849e-3bcf4fcdf741	8630a7bf-bde9-4726-ac4d-8641b8365de9	g.chr7:149492709G>A	ENST00000378016.2	+	0	6489							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion (GO:0007155)	extracellular space (GO:0005615)	peptidase inhibitor activity (GO:0030414)					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			GTCTACACTGGCATGACTATC	0.617																																						ENST00000378016.2																			0													SCO-spondin							129	140	137					7																	149492709		2128	4244	6372			23145				cell adhesion	extracellular space	peptidase inhibitor activity	g.chr7:149492709G>A	AK093431		7q36.1	2013-08-07	2013-08-06		ENSG00000197558	ENSG00000197558			21998	protein-coding gene	gene with protein product	"subcommissural organ spondin", "SCO protein, thrombospondin domain containing"		"SCO-spondin homolog (Bos taurus)"			8743952, 11008217	Standard	NM_198455		Approved	SCO-spondin, KIAA0543, FLJ36112	uc010lpk.3	A2VEC9	OTTHUMG00000157884		7.37:g.149492709G>A										A2VEC9	SSPO_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00625)		0	6489	+	Melanoma(164;0.165)|Ovarian(565;0.177)							Q76B61	RNA	SNP	ENST00000378016.2	37																																																																																						0.617	SSPO-202	KNOWN	basic	processed_transcript	processed_transcript				4	147	0	0	0	1	0	4	147					A	149492709	G	A	149492709	1	1	387	0	1	0	0	0	0	0	0	0	15188	1212	42	3		3	SSPO	7	149492709	RNA	SNP	G	TCGA-V1-A9OL-01A-11D-A41K-08	59136640	149492709	9645954	17	19001											
FAM83A	84985	broad.mit.edu	37	chr8	124219887	124219887	+	Frame_Shift_Del	DEL	C	C	-																															gcctggtgccgaggctgactCcaacctggaggcccttcctg																										TCGA-V1-A9OL-01A-11D-A41K-08	TCGA-V1-A9OL-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10d212ad-7a3d-4bb9-849e-3bcf4fcdf741	8630a7bf-bde9-4726-ac4d-8641b8365de9	g.chr8:124219887delC	ENST00000518448.1	+	5	3278	c.1264delC	c.(1264-1266)ccafs	p.P422fs	FAM83A_ENST00000522648.1_Intron|FAM83A_ENST00000318462.6_Frame_Shift_Del_p.P422fs|FAM83A_ENST00000276699.6_Intron|FAM83A_ENST00000546351.1_Intron|FAM83A_ENST00000536633.1_Intron			Q86UY5	FA83A_HUMAN	family with sequence similarity 83, member A	422										breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(2)|skin(1)	17	Lung NSC(37;1.55e-09)|Ovarian(258;0.0205)		STAD - Stomach adenocarcinoma(47;0.00527)			GAGGCTGACTCCAACCTGGAG	0.706																																						ENST00000518448.1																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(2)|skin(1)	17						c.(1264-1266)cafs		family with sequence similarity 83, member A							4	4	4					8																	124219887		1820	3737	5557	SO:0001589	frameshift_variant	84985							g.chr8:124219887delC	BC052300	CCDS6339.1, CCDS6340.1, CCDS75784.1	8q24.13	2014-03-13			ENSG00000147689	ENSG00000147689			28210	protein-coding gene	gene with protein product						22886303	Standard	XM_005251087		Approved	MGC14128, BJ-TSA-9	uc003ypx.3	Q86UY5	OTTHUMG00000165083	ENST00000518448.1:c.1264delC	8.37:g.124219887delC	ENSP00000428876:p.Pro422fs					FAM83A_ENST00000546351.1_Intron|FAM83A_ENST00000536633.1_Intron|FAM83A_ENST00000318462.6_Frame_Shift_Del_p.P422fs|FAM83A_ENST00000276699.6_Intron|FAM83A_ENST00000522648.1_Intron	p.P422fs			Q86UY5	FA83A_HUMAN	STAD - Stomach adenocarcinoma(47;0.00527)		5	3278	+	Lung NSC(37;1.55e-09)|Ovarian(258;0.0205)		422					Q71HL2|Q8N7I1|Q96I47	Frame_Shift_Del	DEL	ENST00000518448.1	37	c.1264delC	CCDS6340.1																																																																																				0.706	FAM83A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381737.1	NM_032899		2	4						2	4	---	---	---	---	-	124219887	C	-	124219887	7	5	387	1	0	1	0	1	0	0	0	0	5633	855	30	0	1278	0	FAM83A	8	124219887	Frame_Shift_Del	DEL	C	TCGA-V1-A9OL-01A-11D-A41K-08		124219887	22144135	18	19002											
POU5F1B	5462	broad.mit.edu	37	chr8	128428597	128428597	+	Nonsense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aagaggatcaccctgggataTacacaggccgatgtggggct	11	7	14	9	1	1	1	1	0	0	1	1	4	1	3	2	5	1	1	2	5	3	2			TCGA-V1-A9OL-01A-11D-A41K-08	TCGA-V1-A9OL-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10d212ad-7a3d-4bb9-849e-3bcf4fcdf741	8630a7bf-bde9-4726-ac4d-8641b8365de9	g.chr8:128428597T>G	ENST00000465342.2	+	2	1643	c.486T>G	c.(484-486)taT>taG	p.Y162*	CASC8_ENST00000523825.1_RNA|CASC8_ENST00000502082.1_RNA|POU5F1B_ENST00000391675.1_Nonsense_Mutation_p.Y162*|CASC8_ENST00000501396.1_RNA			Q06416	P5F1B_HUMAN	POU class 5 homeobox 1B	162	POU-specific. {ECO:0000255|PROSITE- ProRule:PRU00530}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			lung(1)|prostate(1)|urinary_tract(1)	3						CCCTGGGATATACACAGGCCG	0.517																																						ENST00000465342.2																			0				lung(1)|prostate(1)|urinary_tract(1)	3						c.(484-486)taT>taG		POU class 5 homeobox 1B							53	59	57					8																	128428597		692	1591	2283	SO:0001587	stop_gained	5462					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr8:128428597T>G	AF268615	CCDS55274.1	8q24.21	2011-06-20	2009-04-15	2009-04-15	ENSG00000212993	ENSG00000212993		"Homeoboxes / POU class"	9223	protein-coding gene	gene with protein product		615739	"POU domain class 5, transcription factor 1 pseudogene 1", "POU class 5 homeobox 1 pseudogene 1"	OTF3P1, POU5F1P1		1408763	Standard	NM_001159542		Approved	OTF3C	uc003ysf.3	Q06416	OTTHUMG00000157807	ENST00000465342.2:c.486T>G	8.37:g.128428597T>G	ENSP00000419298:p.Tyr162*					CASC8_ENST00000501396.1_RNA|CASC8_ENST00000523825.1_RNA|POU5F1B_ENST00000391675.1_Nonsense_Mutation_p.Y162*|CASC8_ENST00000502082.1_RNA	p.Y162*			Q06416	P5F1B_HUMAN			2	1643	+			162			POU-specific.		D5K9S4|D5K9S9|D5K9T0|D5K9T1|D5K9T3|D5K9U3|D5K9U6|D5K9V4|D5K9V6|D5K9W0|D5K9W2|D5K9W7|D5K9X2|D5K9X3|D5K9X5|D5K9X8|D5K9X9|E9LRB1|E9LRB2|E9LRH5|E9LRH6|E9LRH7|E9LRK4|E9LRK5|E9LRK7|E9LRK8|E9LRM7|E9LRM9|E9LRN2|E9LRN4|E9LRN5|E9LRP8|E9LRQ0|E9LRQ2|E9LRQ3|E9LRQ4|E9LRQ5|E9LRS3|Q2VIK6|Q9BZV7|Q9BZV9	Nonsense_Mutation	SNP	ENST00000465342.2	37	c.486T>G	CCDS55274.1	.	.	.	.	.	.	.	.	.	.	T	46	12.484851	0.99671	.	.	ENSG00000212993	ENST00000465342;ENST00000391675	.	.	.	1.14	-2.28	0.06826	.	0.000000	0.37053	N	0.002263	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	2.9159	0.05752	0.2035:0.3107:0.0:0.4857	.	.	.	.	X	162	.	ENSP00000375557:Y162X	Y	+	3	2	POU5F1B	128497779	0.993000	0.37304	0.694000	0.30210	0.725000	0.41563	0.111000	0.15458	-1.377000	0.02123	0.113000	0.15668	TAT		0.517	POU5F1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349649.2	NM_001159542		3	16	0	0	0	1	0	3	16					G	128428597	T	G	128428597	4	3	387	1	0	0	0	0	0	1	0	0	12282	1413	49	5	488	5	POU5F1B	8	128428597	Nonsense_Mutation	SNP	T	TCGA-V1-A9OL-01A-11D-A41K-08	4208710	128428597	17935425	19	19003											
HAUS6	54801	broad.mit.edu	37	chr9	19063090	19063090	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccaaatgcactactctctgtAttctttgcaacatctgataa	12	14	4	11	0	3	1	0	1	3	0	4	1	3	1	1	0	4	3	1	0	5	5			TCGA-V1-A9OL-01A-11D-A41K-08	TCGA-V1-A9OL-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10d212ad-7a3d-4bb9-849e-3bcf4fcdf741	8630a7bf-bde9-4726-ac4d-8641b8365de9	g.chr9:19063090A>T	ENST00000380502.3	-	14	2012	c.1545T>A	c.(1543-1545)aaT>aaA	p.N515K	SCARNA8_ENST00000515924.1_RNA|HAUS6_ENST00000380496.1_Missense_Mutation_p.N379K	NM_001270890.1|NM_017645.4	NP_001257819.1|NP_060115.3	Q7Z4H7	HAUS6_HUMAN	HAUS augmin-like complex, subunit 6	515					centrosome organization (GO:0051297)|mitotic nuclear division (GO:0007067)|spindle assembly (GO:0051225)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|HAUS complex (GO:0070652)|microtubule (GO:0005874)				autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						TACTCTCTGTATTCTTTGCAA	0.358																																						ENST00000380502.3																			0				autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(1543-1545)aaT>aaA		HAUS augmin-like complex, subunit 6							134	124	127					9																	19063090		2203	4300	6503	SO:0001583	missense	54801				cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|nucleus|spindle		g.chr9:19063090A>T	AL832495	CCDS6489.1	9p22.1	2011-10-24	2009-04-20	2009-04-20	ENSG00000147874	ENSG00000147874		"HAUS augmin-like complex subunits"	25948	protein-coding gene	gene with protein product		613433	"family with sequence similarity 29, member A"	FAM29A		10997877, 19427217	Standard	NM_001270890		Approved	FLJ20060, KIAA1574, dgt6	uc003znk.4	Q7Z4H7	OTTHUMG00000019622	ENST00000380502.3:c.1545T>A	9.37:g.19063090A>T	ENSP00000369871:p.Asn515Lys					HAUS6_ENST00000380496.1_Missense_Mutation_p.N379K	p.N515K	NM_017645.3	NP_060115.3	Q7Z4H7	HAUS6_HUMAN			14	2012	-			515					B3KPK4|B4DX82|Q05CG1|Q14CB6|Q14CD9|Q2TA91|Q6IQ10|Q6NZX5|Q8IZQ4|Q96FN0|Q9H950|Q9H998|Q9HCJ8|Q9NXT8	Missense_Mutation	SNP	ENST00000380502.3	37	c.1545T>A	CCDS6489.1	.	.	.	.	.	.	.	.	.	.	A	5.211	0.224406	0.09863	.	.	ENSG00000147874	ENST00000380502;ENST00000380496;ENST00000415524	T;T;T	0.52754	1.89;1.88;0.65	5.49	-1.41	0.08941	.	0.820514	0.11608	N	0.547056	T	0.48114	0.1482	M	0.67953	2.075	0.09310	N	1	B;B;P;B	0.37207	0.225;0.25;0.587;0.112	B;B;B;B	0.41894	0.055;0.066;0.369;0.013	T	0.50338	-0.8840	10	0.72032	D	0.01	-2.3304	10.3439	0.43895	0.6034:0.0:0.3966:0.0	.	480;515;379;515	Q7Z4H7-3;Q7Z4H7-2;Q5VY60;Q7Z4H7	.;.;.;HAUS6_HUMAN	K	515;379;31	ENSP00000369871:N515K;ENSP00000369865:N379K;ENSP00000409615:N31K	ENSP00000369865:N379K	N	-	3	2	HAUS6	19053090	0.000000	0.05858	0.000000	0.03702	0.033000	0.12548	-0.093000	0.11111	-0.142000	0.11354	0.379000	0.24179	AAT		0.358	HAUS6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051825.1	NM_017645		51	78	0	0	0	1	0	51	78					T	19063090	A	T	19063090	3	4	387	1	0	0	0	0	1	0	0	0	6970	446	16	5	1338	5	HAUS6	9	19063090	Missense_Mutation	SNP	A	TCGA-V1-A9OL-01A-11D-A41K-08		19063090	122150341	20	19004											
A1CF	29974	broad.mit.edu	37	chr10	52619638	52619638	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgtgcgctggaccagtgcGcggagggctgcttccttctg	3	10	15	13	3	1	0	0	0	1	0	2	2	2	2	3	3	3	3	3	3	0	2	rs371584214		TCGA-V1-A9OL-01A-11D-A41K-08	TCGA-V1-A9OL-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10d212ad-7a3d-4bb9-849e-3bcf4fcdf741	8630a7bf-bde9-4726-ac4d-8641b8365de9	g.chr10:52619638G>A	ENST00000373993.1	-	1	107	c.63C>T	c.(61-63)cgC>cgT	p.R21R	A1CF_ENST00000373997.3_Silent_p.R21R|A1CF_ENST00000282641.2_Silent_p.R21R|A1CF_ENST00000395489.2_5'UTR|A1CF_ENST00000373995.3_5'UTR|A1CF_ENST00000374001.2_Silent_p.R21R|A1CF_ENST00000395495.1_Silent_p.R21R			Q9NQ94	A1CF_HUMAN	APOBEC1 complementation factor	21					cytidine to uridine editing (GO:0016554)|gene expression (GO:0010467)|mRNA modification (GO:0016556)|mRNA processing (GO:0006397)|protein stabilization (GO:0050821)	apolipoprotein B mRNA editing enzyme complex (GO:0030895)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)|single-stranded RNA binding (GO:0003727)			NS(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(14)|prostate(2)|skin(3)	29						GGACCAGTGCGCGGAGGGCTG	0.483																																						ENST00000282641.2																			0				NS(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(14)|prostate(2)|skin(3)	29						c.(61-63)cgC>cgT		APOBEC1 complementation factor		G	,,,,,	0,4406		0,0,2203	100	90	93		63,,,63,63,	-0.2	1	10		93	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,utr-5,utr-5,coding-synonymous,coding-synonymous,utr-5	A1CF	NM_001198818.1,NM_001198819.1,NM_001198820.1,NM_014576.3,NM_138932.2,NM_138933.2	,,,,,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,,,,,	21/587,,,21/587,21/595,	52619638	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	29974				cytidine to uridine editing|mRNA modification|mRNA processing|protein stabilization	apolipoprotein B mRNA editing enzyme complex|endoplasmic reticulum|nucleoplasm	nucleotide binding|protein binding|single-stranded RNA binding	g.chr10:52619638G>A	AF271790	CCDS7241.1, CCDS7242.1, CCDS7243.1, CCDS73133.1	10q21.1	2013-02-12			ENSG00000148584	ENSG00000148584		"RNA binding motif (RRM) containing"	24086	protein-coding gene	gene with protein product						11815617, 11072063	Standard	NM_014576		Approved	ACF, ASP, ACF64, ACF65, APOBEC1CF	uc001jjj.3	Q9NQ94	OTTHUMG00000018240	ENST00000373993.1:c.63C>T	10.37:g.52619638G>A						A1CF_ENST00000395495.1_Silent_p.R21R|A1CF_ENST00000373997.3_Silent_p.R21R|A1CF_ENST00000373995.3_5'UTR|A1CF_ENST00000395489.2_5'UTR|A1CF_ENST00000374001.1_Silent_p.R21R|A1CF_ENST00000373993.1_Silent_p.R21R	p.R21R	NM_138932.2	NP_620310.1	Q9NQ94	A1CF_HUMAN			3	250	-			21					A1L4F2|A8K7G7|B7ZM14|Q5SZQ0|Q9NQ93|Q9NQX8|Q9NQX9|Q9NXC9|Q9NZD3	Silent	SNP	ENST00000373993.1	37	c.63C>T	CCDS7242.1																																																																																				0.483	A1CF-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048086.2	NM_014576		30	32	0	0	0	1	0	30	32					A	52619638	G	A	52619638	2	1	387	1	0	0	0	0	0	0	0	1	2	1074	38	1		1	A1CF	10	52619638	Silent	SNP	G	TCGA-V1-A9OL-01A-11D-A41K-08		52619638	82915109	21	19005											
CLPB	81570	broad.mit.edu	37	chr11	72006547	72006547	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ccgccatacccaggttttcgGcaatacggttacggctcatc	8	10	9	14	4	1	0	1	0	0	0	3	0	1	0	3	4	3	4	3	4	4	5	rs149985372	byFrequency	TCGA-V1-A9OL-01A-11D-A41K-08	TCGA-V1-A9OL-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10d212ad-7a3d-4bb9-849e-3bcf4fcdf741	8630a7bf-bde9-4726-ac4d-8641b8365de9	g.chr11:72006547G>A	ENST00000294053.3	-	13	1738	c.1565C>T	c.(1564-1566)gCc>gTc	p.A522V	CLPB_ENST00000538021.1_Missense_Mutation_p.A130V|CLPB_ENST00000543042.1_Missense_Mutation_p.A321V|CLPB_ENST00000340729.5_Missense_Mutation_p.A463V|CLPB_ENST00000538039.1_Missense_Mutation_p.A492V|CLPB_ENST00000437826.2_Missense_Mutation_p.A477V	NM_001258394.1|NM_030813.4	NP_001245323.1|NP_110440.1	Q9H078	CLPB_HUMAN	ClpB caseinolytic peptidase B homolog (E. coli)	522					cellular response to heat (GO:0034605)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)			endometrium(3)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	19						CAGGTTTTCGGCAATACGGTT	0.602																																						ENST00000294053.3																			0				endometrium(3)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	19						c.(1564-1566)gCc>gTc		ClpB caseinolytic peptidase B homolog (E. coli)							115	83	93					11																	72006547		2200	4293	6493	SO:0001583	missense	81570				cellular response to heat		ATP binding|nucleoside-triphosphatase activity|protein binding	g.chr11:72006547G>A	BC006404	CCDS8215.1, CCDS58152.1, CCDS58153.1, CCDS58154.1	11q13.4	2013-01-10			ENSG00000162129	ENSG00000162129		"Ankyrin repeat domain containing"	30664	protein-coding gene	gene with protein product	"suppressor of potassium transport defect 3"					11230166, 7835694	Standard	NM_030813		Approved	HSP78, SKD3, FLJ13152	uc010rqy.3	Q9H078	OTTHUMG00000167902	ENST00000294053.3:c.1565C>T	11.37:g.72006547G>A	ENSP00000294053:p.Ala522Val					CLPB_ENST00000437826.2_Missense_Mutation_p.A477V|CLPB_ENST00000538021.1_Missense_Mutation_p.A130V|CLPB_ENST00000340729.5_Missense_Mutation_p.A463V|CLPB_ENST00000543042.1_Missense_Mutation_p.A321V|CLPB_ENST00000538039.1_Missense_Mutation_p.A492V	p.A522V	NM_001258394.1|NM_030813.4	NP_001245323.1|NP_110440.1	Q9H078	CLPB_HUMAN			13	1738	-			522					B4DXJ7|B4DXP7|E7EWN6|F8W7P6|Q8ND11|Q9H8Y0	Missense_Mutation	SNP	ENST00000294053.3	37	c.1565C>T	CCDS8215.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.44|19.44	3.827654|3.827654	0.71143|0.71143	.|.	.|.	ENSG00000162129|ENSG00000162129	ENST00000294053;ENST00000538039;ENST00000535990;ENST00000340729;ENST00000437826;ENST00000543042;ENST00000538021|ENST00000544382	T;T;T;T;T;T|.	0.65732|.	1.91;1.14;2.13;-0.17;2.38;0.43|.	4.8|4.8	4.8|4.8	0.61643|0.61643	ATPase, AAA-2 (1);ATPase, AAA+ type, core (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.68504|0.68504	0.3008|0.3008	L|L	0.52573|0.52573	1.65|1.65	0.80722|0.80722	D|D	1|1	B;B;B;P;D;B|.	0.63880|.	0.064;0.335;0.387;0.539;0.993;0.064|.	B;B;B;B;P;B|.	0.62649|.	0.035;0.084;0.211;0.19;0.905;0.038|.	T|T	0.66806|0.66806	-0.5830|-0.5830	10|5	0.62326|.	D|.	0.03|.	-8.7936|-8.7936	16.4633|16.4633	0.84071|0.84071	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	321;463;477;492;522;130|.	B4DXW4;F8W7P6;E7EWN6;Q9H078-2;Q9H078;Q7Z777|.	.;.;.;.;CLPB_HUMAN;.|.	V|S	522;492;527;463;477;321;130|300	ENSP00000294053:A522V;ENSP00000441518:A492V;ENSP00000443822:A527V;ENSP00000340385:A463V;ENSP00000407296:A477V;ENSP00000439746:A321V|.	ENSP00000294053:A522V|.	A|P	-|-	2|1	0|0	CLPB|CLPB	71684195|71684195	1.000000|1.000000	0.71417|0.71417	0.232000|0.232000	0.24009|0.24009	0.993000|0.993000	0.82548|0.82548	9.434000|9.434000	0.97515|0.97515	2.220000|2.220000	0.72140|0.72140	0.561000|0.561000	0.74099|0.74099	GCC|CCG		0.602	CLPB-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000396889.1	NM_030813		3	40	0	0	0	1	0	3	40					A	72006547	G	A	72006547	3	1	387	1	0	0	0	0	1	0	0	0	3551	1203	42	3	578	3	CLPB	11	72006547	Missense_Mutation	SNP	G	TCGA-V1-A9OL-01A-11D-A41K-08		72006547	62999969	22	19006											
FKBP4	2288	broad.mit.edu	37	chr12	2909556	2909556	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgagcctctctcccattccAggaaggtaaatacaagcaag	13	8	8	12	0	1	1	0	1	1	0	4	2	3	2	3	2	3	2	3	2	6	3			TCGA-V1-A9OL-01A-11D-A41K-08	TCGA-V1-A9OL-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10d212ad-7a3d-4bb9-849e-3bcf4fcdf741	8630a7bf-bde9-4726-ac4d-8641b8365de9	g.chr12:2909556A>G	ENST00000001008.4	+	8	1033		c.e8-1		RP4-816N1.7_ENST00000547042.1_RNA|RP4-816N1.6_ENST00000547834.1_RNA	NM_002014.3	NP_002005.1	Q02790	FKBP4_HUMAN	FK506 binding protein 4, 59kDa						androgen receptor signaling pathway (GO:0030521)|chaperone-mediated protein folding (GO:0061077)|copper ion transport (GO:0006825)|embryo implantation (GO:0007566)|male sex differentiation (GO:0046661)|negative regulation of microtubule polymerization (GO:0031115)|negative regulation of microtubule polymerization or depolymerization (GO:0031111)|negative regulation of neuron projection development (GO:0010977)|prostate gland development (GO:0030850)|protein complex localization (GO:0031503)|protein folding (GO:0006457)|protein peptidyl-prolyl isomerization (GO:0000413)|steroid hormone receptor complex assembly (GO:0006463)	axonal growth cone (GO:0044295)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	ATP binding (GO:0005524)|FK506 binding (GO:0005528)|GTP binding (GO:0005525)|heat shock protein binding (GO:0031072)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|poly(A) RNA binding (GO:0044822)|protein binding, bridging (GO:0030674)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)|skin(1)	14			OV - Ovarian serous cystadenocarcinoma(31;0.00105)			CTCCCATTCCAGGAAGGTAAA	0.468																																						ENST00000001008.4																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)|skin(1)	14						c.e8-1		FK506 binding protein 4, 59kDa	Dimethyl sulfoxide(DB01093)						67	61	63					12																	2909556		2203	4300	6503	SO:0001630	splice_region_variant	2288				negative regulation of microtubule polymerization or depolymerization|negative regulation of neuron projection development|protein folding	axonal growth cone|cytosol|membrane|microtubule|nucleus	FK506 binding|heat shock protein binding|peptidyl-prolyl cis-trans isomerase activity|protein binding, bridging	g.chr12:2909556A>G	M88279	CCDS8512.1	12p13.33	2013-01-10	2002-08-29		ENSG00000004478	ENSG00000004478		"Tetratricopeptide (TTC) repeat domain containing"	3720	protein-coding gene	gene with protein product		600611	"FK506-binding protein 4 (59kD)"			1279700	Standard	NM_002014		Approved	FKBP59, FKBP52	uc001qkz.3	Q02790	OTTHUMG00000090429	ENST00000001008.4:c.847-1A>G	12.37:g.2909556A>G						RP4-816N1.7_ENST00000547042.1_RNA|RP4-816N1.6_ENST00000547834.1_RNA		NM_002014.3	NP_002005.1	Q02790	FKBP4_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00105)		8	1033	+								D3DUQ1|Q9UCP1|Q9UCV7	Splice_Site	SNP	ENST00000001008.4	37		CCDS8512.1	.	.	.	.	.	.	.	.	.	.	A	14.20	2.463963	0.43736	.	.	ENSG00000004478	ENST00000001008	.	.	.	5.38	5.38	0.77491	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.5916	0.68368	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	FKBP4	2779817	1.000000	0.71417	0.912000	0.35992	0.403000	0.30841	6.962000	0.76048	2.046000	0.60703	0.459000	0.35465	.		0.468	FKBP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206861.1		Intron	13	16	0	0	0	1	0	13	16					G	2909556	A	G	2909556	5	3	387	1	0	0	0	0	0	0	1	0	5910	202	7	4	875	4	FKBP4	12	2909556	Splice_Site	SNP	A	TCGA-V1-A9OL-01A-11D-A41K-08		2909556	130942339	23	19007											
CNTN1	1272	broad.mit.edu	37	chr12	41323722	41323722	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttgaggcttccgacaaaggCaattattcctgctttgtttc	8	15	9	9	1	0	1	0	1	0	0	3	2	2	1	2	2	1	5	2	2	3	6			TCGA-V1-A9OL-01A-11D-A41K-08	TCGA-V1-A9OL-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10d212ad-7a3d-4bb9-849e-3bcf4fcdf741	8630a7bf-bde9-4726-ac4d-8641b8365de9	g.chr12:41323722C>A	ENST00000551295.2	+	7	738	c.621C>A	c.(619-621)ggC>ggA	p.G207G	CNTN1_ENST00000547849.1_Silent_p.G207G|CNTN1_ENST00000348761.2_Silent_p.G196G|CNTN1_ENST00000360099.3_Silent_p.G207G|CNTN1_ENST00000547702.1_Silent_p.G207G|CNTN1_ENST00000347616.1_Silent_p.G207G	NM_001843.3	NP_001834.2	Q12860	CNTN1_HUMAN	contactin 1	207	Ig-like C2-type 2.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cerebellum development (GO:0021549)|Notch signaling pathway (GO:0007219)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transport (GO:0010765)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	90	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)				CCGACAAAGGCAATTATTCCT	0.368																																						ENST00000551295.2																			0				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	90						c.(619-621)ggC>ggA		contactin 1							168	165	166					12																	41323722		2203	4300	6503	SO:0001819	synonymous_variant	1272				axon guidance|cell adhesion|Notch signaling pathway	anchored to membrane|membrane fraction|plasma membrane		g.chr12:41323722C>A	Z21488	CCDS8737.1, CCDS8738.1, CCDS58225.1	12q11-q12	2014-01-30				ENSG00000018236		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing", "Endogenous ligands"	2171	protein-coding gene	gene with protein product	"glycoprotein gP135"	600016				7959734, 8586965	Standard	NM_001843		Approved	F3, GP135	uc031qgz.1	Q12860		ENST00000551295.2:c.621C>A	12.37:g.41323722C>A						CNTN1_ENST00000347616.1_Silent_p.G207G|CNTN1_ENST00000547849.1_Silent_p.G207G|CNTN1_ENST00000547702.1_Silent_p.G207G|CNTN1_ENST00000348761.2_Silent_p.G196G|CNTN1_ENST00000360099.3_Silent_p.G207G	p.G207G	NM_001843.3	NP_001834.2	Q12860	CNTN1_HUMAN			7	738	+	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)	207			Ig-like C2-type 2.		A8K0H9|A8K0Y3|Q12861|Q14030|Q7M4P0|Q8N466	Silent	SNP	ENST00000551295.2	37	c.621C>A	CCDS8737.1																																																																																				0.368	CNTN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403692.2	NM_001843		42	130	1	0	6.48837e-15	1	7.35348e-15	42	130					A	41323722	C	A	41323722	2	1	387	1	0	0	0	0	0	0	0	1	3640	697	25	5		5	CNTN1	12	41323722	Silent	SNP	C	TCGA-V1-A9OL-01A-11D-A41K-08	38414166	41323722	92528173	24	19008											
NR4A1	3164	broad.mit.edu	37	chr12	52448435	52448435	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caagttcgaggacttccaggTgtacggctgctaccccggcc	7	8	12	14	3	0	0	0	0	0	0	2	2	1	1	4	4	3	4	4	4	3	4			TCGA-V1-A9OL-01A-11D-A41K-08	TCGA-V1-A9OL-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10d212ad-7a3d-4bb9-849e-3bcf4fcdf741	8630a7bf-bde9-4726-ac4d-8641b8365de9	g.chr12:52448435T>G	ENST00000243050.1	+	3	637	c.323T>G	c.(322-324)gTg>gGg	p.V108G	NR4A1_ENST00000550082.1_Missense_Mutation_p.V121G|NR4A1_ENST00000360284.3_Missense_Mutation_p.V121G|NR4A1_ENST00000547206.1_3'UTR|NR4A1_ENST00000548232.1_Missense_Mutation_p.V108G|NR4A1_ENST00000545748.1_Missense_Mutation_p.V162G|NR4A1_ENST00000394824.2_Missense_Mutation_p.V108G|NR4A1_ENST00000394825.1_Missense_Mutation_p.V108G	NM_002135.4	NP_002126.2	P22736	NR4A1_HUMAN	nuclear receptor subfamily 4, group A, member 1	108					cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|endothelial cell chemotaxis (GO:0035767)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|signal transduction (GO:0007165)|skeletal muscle cell differentiation (GO:0035914)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(2)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(2)	16				BRCA - Breast invasive adenocarcinoma(357;0.0967)		GACTTCCAGGTGTACGGCTGC	0.672																																						ENST00000545748.1																			0				endometrium(2)|kidney(2)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(2)	16						c.(484-486)gTg>gGg		nuclear receptor subfamily 4, group A, member 1							93	84	87					12																	52448435		2203	4300	6503	SO:0001583	missense	0				nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor		steroid hormone receptor activity|zinc ion binding	g.chr12:52448435T>G	L13740	CCDS8818.1, CCDS55828.1, CCDS73471.1	12q13	2013-01-16			ENSG00000123358	ENSG00000123358		"Nuclear hormone receptors"	7980	protein-coding gene	gene with protein product		139139		HMR, GFRP1		2626032	Standard	NM_002135		Approved	TR3, N10, NAK-1, NGFIB, NUR77	uc001rzt.3	P22736	OTTHUMG00000150393	ENST00000243050.1:c.323T>G	12.37:g.52448435T>G	ENSP00000243050:p.Val108Gly					NR4A1_ENST00000360284.3_Missense_Mutation_p.V121G|NR4A1_ENST00000394824.2_Missense_Mutation_p.V108G|NR4A1_ENST00000394825.1_Missense_Mutation_p.V108G|NR4A1_ENST00000550082.1_Missense_Mutation_p.V121G|NR4A1_ENST00000548232.1_Missense_Mutation_p.V108G|NR4A1_ENST00000547206.1_3'UTR|NR4A1_ENST00000243050.1_Missense_Mutation_p.V108G	p.V162G			P22736	NR4A1_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.0967)	3	1480	+			108					B4DML7|Q15627|Q53Y00|Q6IBU8	Missense_Mutation	SNP	ENST00000243050.1	37	c.485T>G	CCDS8818.1	.	.	.	.	.	.	.	.	.	.	T	26.2	4.710626	0.89112	.	.	ENSG00000123358	ENST00000360284;ENST00000545748;ENST00000550082;ENST00000243050;ENST00000394825;ENST00000550763;ENST00000394824;ENST00000548232	D;D;D;D;D;T;D;D	0.93247	-3.13;-3.15;-3.13;-3.12;-3.12;0.53;-3.12;-3.19	4.84	4.84	0.62591	.	1.226840	0.05824	N	0.616326	D	0.94056	0.8095	L	0.29908	0.895	0.80722	D	1	P;D;D	0.71674	0.914;0.977;0.998	P;P;D	0.63597	0.505;0.685;0.916	D	0.86372	0.1724	10	0.20046	T	0.44	.	13.8275	0.63359	0.0:0.0:0.0:1.0	.	121;108;108	B4DML7;P22736;Q15627	.;NR4A1_HUMAN;.	G	121;162;121;108;108;108;108;108	ENSP00000353427:V121G;ENSP00000440864:V162G;ENSP00000449539:V121G;ENSP00000243050:V108G;ENSP00000378302:V108G;ENSP00000449858:V108G;ENSP00000378301:V108G;ENSP00000449587:V108G	ENSP00000243050:V108G	V	+	2	0	NR4A1	50734702	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.477000	0.81069	2.171000	0.68590	0.459000	0.35465	GTG;GTG;GTG;GTG;GTG;GTC;GTG;GTG		0.672	NR4A1-201	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000317922.2			15	45	0	0	0	1	0	15	45					G	52448435	T	G	52448435	3	3	387	1	0	0	0	0	1	0	0	0	10632	1696	59	5	325	5	NR4A1	12	52448435	Missense_Mutation	SNP	T	TCGA-V1-A9OL-01A-11D-A41K-08	11124713	52448435	81403460	25	19009											
KRT6A	3853	broad.mit.edu	37	chr12	52884407	52884407	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttctctgagcaatctcctcAtattgggccttgacctcagc	7	13	7	14	0	4	2	2	2	2	0	6	2	4	2	3	1	2	1	3	1	2	4			TCGA-V1-A9OL-01A-11D-A41K-08	TCGA-V1-A9OL-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10d212ad-7a3d-4bb9-849e-3bcf4fcdf741	8630a7bf-bde9-4726-ac4d-8641b8365de9	g.chr12:52884407A>G	ENST00000330722.6	-	5	1091	c.1023T>C	c.(1021-1023)taT>taC	p.Y341Y		NM_005554.3	NP_005545.1	P02538	K2C6A_HUMAN	keratin 6A	341	Coil 2.|Rod.				cell differentiation (GO:0030154)|positive regulation of cell proliferation (GO:0008284)	extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)|membrane (GO:0016020)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|liver(1)|lung(14)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	39				BRCA - Breast invasive adenocarcinoma(357;0.189)		CAATCTCCTCATATTGGGCCT	0.577																																						ENST00000330722.6																			0				breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|liver(1)|lung(14)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	39						c.(1021-1023)taT>taC		keratin 6A							176	169	172					12																	52884407		2203	4300	6503	SO:0001819	synonymous_variant	3853				cell differentiation|ectoderm development|positive regulation of cell proliferation	keratin filament	protein binding|structural constituent of cytoskeleton	g.chr12:52884407A>G	BC014152, L42593, L42610	CCDS41786.1	12q13.13	2013-01-16			ENSG00000205420	ENSG00000205420		"-", "Intermediate filaments type II, keratins (basic)"	6443	protein-coding gene	gene with protein product		148041	"keratin 6C", "keratin 6D"	KRT6C, KRT6D		1713141, 16831889	Standard	NM_005554		Approved	CK6C, K6C, CK6D, K6D	uc001sam.3	P02538	OTTHUMG00000169597	ENST00000330722.6:c.1023T>C	12.37:g.52884407A>G							p.Y341Y	NM_005554.3	NP_005545.1	P02538	K2C6A_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.189)	5	1091	-			341			Coil 2.|Rod.		A4QPC1|P48667|Q08AR4|Q6NT67|Q96CL4	Silent	SNP	ENST00000330722.6	37	c.1023T>C	CCDS41786.1																																																																																				0.577	KRT6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404978.2	NM_005554		12	143	0	0	0	1	0	12	143					G	52884407	A	G	52884407	2	3	387	1	0	0	0	0	0	0	0	1	8480	224	8	4		4	KRT6A	12	52884407	Silent	SNP	A	TCGA-V1-A9OL-01A-11D-A41K-08	435972	52884407	80967488	26	19010											
NCOR2	9612	broad.mit.edu	37	chr12	124856836	124856836	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cactgccagctcctcagccgCggggggcttctgctcctccc	3	8	11	19	2	2	0	1	0	1	0	5	0	5	0	5	3	4	3	5	3	0	1			TCGA-V1-A9OL-01A-11D-A41K-08	TCGA-V1-A9OL-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10d212ad-7a3d-4bb9-849e-3bcf4fcdf741	8630a7bf-bde9-4726-ac4d-8641b8365de9	g.chr12:124856836C>T	ENST00000405201.1	-	20	2539	c.2539G>A	c.(2539-2541)Gcg>Acg	p.A847T	NCOR2_ENST00000397355.1_Missense_Mutation_p.A830T|NCOR2_ENST00000404621.1_Missense_Mutation_p.A829T|NCOR2_ENST00000429285.2_Missense_Mutation_p.A829T|NCOR2_ENST00000356219.3_Missense_Mutation_p.A847T|NCOR2_ENST00000404121.2_Missense_Mutation_p.A400T			Q9Y618	NCOR2_HUMAN	nuclear receptor corepressor 2	847					cellular lipid metabolic process (GO:0044255)|gene expression (GO:0010467)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|regulation of cellular ketone metabolic process by negative regulation of transcription from RNA polymerase II promoter (GO:0072365)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	membrane (GO:0016020)|nuclear body (GO:0016604)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone deacetylase binding (GO:0042826)|Notch binding (GO:0005112)|protein N-terminus binding (GO:0047485)|transcription corepressor activity (GO:0003714)			breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		TCCTCAGCCGCGGGGGGCTTC	0.697																																						ENST00000356219.3																			0				breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						c.(2539-2541)Gcg>Acg		nuclear receptor corepressor 2							17	21	20					12																	124856836		1966	4124	6090	SO:0001583	missense	9612				cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity	g.chr12:124856836C>T	U37146	CCDS41857.1, CCDS41858.1, CCDS41857.2, CCDS41858.2, CCDS55892.1	12q24	2010-06-10	2010-06-10		ENSG00000196498	ENSG00000196498			7673	protein-coding gene	gene with protein product		600848	"nuclear receptor co-repressor 2"			7566127, 8813722	Standard	NM_001077261		Approved	SMRT, SMRTE, TRAC-1, CTG26, TNRC14	uc010tbb.2	Q9Y618	OTTHUMG00000150455	ENST00000405201.1:c.2539G>A	12.37:g.124856836C>T	ENSP00000384018:p.Ala847Thr					NCOR2_ENST00000429285.2_Missense_Mutation_p.A829T|NCOR2_ENST00000404621.1_Missense_Mutation_p.A829T|NCOR2_ENST00000405201.1_Missense_Mutation_p.A847T|NCOR2_ENST00000404121.2_Missense_Mutation_p.A400T|NCOR2_ENST00000397355.1_Missense_Mutation_p.A830T	p.A847T	NM_006312.5	NP_006303.4	Q9Y618	NCOR2_HUMAN		Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)	21	2694	-	all_neural(191;0.0804)|Medulloblastoma(191;0.163)		847					O00613|O15416|O15421|Q13354|Q56D06|Q59GM0|Q9Y5U0	Missense_Mutation	SNP	ENST00000405201.1	37	c.2539G>A	CCDS41858.2	.	.	.	.	.	.	.	.	.	.	C	12.29	1.894685	0.33442	.	.	ENSG00000196498	ENST00000405201;ENST00000404621;ENST00000356219;ENST00000397355;ENST00000447011;ENST00000404121;ENST00000429285;ENST00000458234	T;T;T;T;T;T;T	0.48836	1.56;1.56;1.56;1.56;1.0;1.56;0.8	4.77	2.89	0.33648	.	1.049870	0.07506	N	0.908109	T	0.33381	0.0861	N	0.22421	0.69	0.09310	N	1	B;B;B	0.17268	0.012;0.012;0.021	B;B;B	0.16722	0.01;0.007;0.016	T	0.26467	-1.0102	10	0.13853	T	0.58	-4.7257	9.7577	0.40513	0.0:0.7806:0.1407:0.0787	.	829;830;847	C9J0Q5;C9J239;C9JFD3	.;.;.	T	847;829;847;830;846;400;829;847	ENSP00000384018:A847T;ENSP00000384202:A829T;ENSP00000348551:A847T;ENSP00000380513:A830T;ENSP00000385618:A400T;ENSP00000400281:A829T;ENSP00000402808:A847T	ENSP00000348551:A847T	A	-	1	0	NCOR2	123422789	0.003000	0.15002	0.002000	0.10522	0.005000	0.04900	1.666000	0.37460	0.408000	0.25621	-0.224000	0.12420	GCG		0.697	NCOR2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318173.2	NM_006312		8	22	0	0	0	1	0	8	22					T	124856836	C	T	124856836	3	4	387	1	0	0	0	0	1	0	0	0	10236	768	27	1	5141	1	NCOR2	12	124856836	Missense_Mutation	SNP	C	TCGA-V1-A9OL-01A-11D-A41K-08	71972429	124856836	8995059	27	19011											
EP400	57634	broad.mit.edu	37	chr12	132547141	132547141	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagcagcagcagcagcaacaGcagcagcagcaacagacgac	16	0	11	14	1	0	1	0	0	0	1	0	2	0	1	0	0	11	9	0	0	2	0			TCGA-V1-A9OL-01A-11D-A41K-08	TCGA-V1-A9OL-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10d212ad-7a3d-4bb9-849e-3bcf4fcdf741	8630a7bf-bde9-4726-ac4d-8641b8365de9	g.chr12:132547141G>A	ENST00000333577.4	+	48	8446	c.8337G>A	c.(8335-8337)caG>caA	p.Q2779Q	EP400_ENST00000389561.2_Silent_p.Q2743Q|EP400_ENST00000389562.2_Silent_p.Q2742Q|EP400_ENST00000332482.4_Silent_p.Q2706Q|EP400_ENST00000330386.6_Silent_p.Q2662Q			Q96L91	EP400_HUMAN	E1A binding protein p400	2779	Interaction with ZNF42. {ECO:0000250}.|Poly-Gln.				chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)	p.Q2742Q(2)		NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		agcagcaacagcagcagcagc	0.597																																						ENST00000333577.4																			2	Substitution - coding silent(2)	p.Q2742Q(2)	kidney(2)	NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161						c.(8335-8337)caG>caA		E1A binding protein p400							52	42	46					12																	132547141		2203	4300	6503	SO:0001819	synonymous_variant	57634				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	g.chr12:132547141G>A	U80743	CCDS31929.1, CCDS31929.2	12q24.33	2008-02-01	2002-02-05	2002-02-08		ENSG00000183495			11958	protein-coding gene	gene with protein product		606265	"trinucleotide repeat containing 12"	TNRC12		9225980, 11509179	Standard	NM_015409		Approved	CAGH32, KIAA1498, P400, KIAA1818, DKFZP434I225	uc001ujn.3	Q96L91		ENST00000333577.4:c.8337G>A	12.37:g.132547141G>A						EP400_ENST00000332482.4_Silent_p.Q2706Q|EP400_ENST00000389562.2_Silent_p.Q2742Q|EP400_ENST00000389561.2_Silent_p.Q2743Q|EP400_ENST00000330386.6_Silent_p.Q2662Q	p.Q2779Q			Q96L91	EP400_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)	48	8446	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)	2779			Interaction with ZNF42 (By similarity).|Poly-Gln.		O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	Silent	SNP	ENST00000333577.4	37	c.8337G>A																																																																																					0.597	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015409		3	29	0	0	0	1	0	3	29					A	132547141	G	A	132547141	2	1	387	1	0	0	0	0	0	0	0	1	5149	962	34	3		3	EP400	12	132547141	Silent	SNP	G	TCGA-V1-A9OL-01A-11D-A41K-08	7690305	132547141	1304754	28	19012											
GPC5	2262	broad.mit.edu	37	chr13	92380805	92380805	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtaaataggatttgtggccGccctgtaagaacacccacac	12	8	10	11	1	0	1	0	0	0	1	0	2	0	2	3	3	1	2	3	3	5	4	rs372530892		TCGA-V1-A9OL-01A-11D-A41K-08	TCGA-V1-A9OL-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10d212ad-7a3d-4bb9-849e-3bcf4fcdf741	8630a7bf-bde9-4726-ac4d-8641b8365de9	g.chr13:92380805G>A	ENST00000377067.3	+	4	1412	c.1040G>A	c.(1039-1041)cGc>cAc	p.R347H	GPC5_ENST00000483422.1_3'UTR	NM_004466.4	NP_004457.1	P78333	GPC5_HUMAN	glypican 5	347					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)		p.R347L(2)|p.R347H(1)		NS(1)|breast(4)|endometrium(6)|kidney(4)|large_intestine(7)|lung(34)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69	all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	Lung NSC(4;0.00454)				ATTTGTGGCCGCCCTGTAAGA	0.418																																						ENST00000377067.3																			3	Substitution - Missense(3)	p.R347L(2)|p.R347H(1)	lung(2)|large_intestine(1)	NS(1)|breast(4)|endometrium(6)|kidney(4)|large_intestine(7)|lung(34)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69						c.(1039-1041)cGc>cAc		glypican 5							110	113	112					13																	92380805		2203	4300	6503	SO:0001583	missense	2262					anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding	g.chr13:92380805G>A	AF001462	CCDS9468.1	13q32	2011-08-01			ENSG00000179399	ENSG00000179399		"Proteoglycans / Cell Surface : Glypicans"	4453	protein-coding gene	gene with protein product	"glypican proteoglycan 5"	602446				9070915, 20304703, 19556317, 15057823	Standard	NM_004466		Approved		uc010tif.2	P78333	OTTHUMG00000017200	ENST00000377067.3:c.1040G>A	13.37:g.92380805G>A	ENSP00000366267:p.Arg347His					GPC5_ENST00000483422.1_3'UTR	p.R347H	NM_004466.4	NP_004457.1	P78333	GPC5_HUMAN			4	1412	+	all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	Lung NSC(4;0.00454)	347					B2R726|O60436|Q9BX27	Missense_Mutation	SNP	ENST00000377067.3	37	c.1040G>A	CCDS9468.1	.	.	.	.	.	.	.	.	.	.	G	2.216	-0.379434	0.05000	.	.	ENSG00000179399	ENST00000377067	T	0.48836	0.8	5.88	-6.19	0.02078	.	0.766929	0.12691	N	0.447174	T	0.16727	0.0402	N	0.05534	-0.03	0.09310	N	0.999995	B	0.06786	0.001	B	0.09377	0.004	T	0.30416	-0.9979	10	0.10377	T	0.69	-8.6529	4.9072	0.13804	0.622:0.1319:0.1513:0.0947	.	347	P78333	GPC5_HUMAN	H	347	ENSP00000366267:R347H	ENSP00000366267:R347H	R	+	2	0	GPC5	91178806	0.020000	0.18652	0.744000	0.31058	0.664000	0.39144	-0.447000	0.06828	-0.706000	0.05028	0.557000	0.71058	CGC		0.418	GPC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045454.1	NM_004466		36	50	0	0	0	1	0	36	50					A	92380805	G	A	92380805	3	1	387	1	0	0	0	0	1	0	0	0	6601	1087	38	1	1054	1	GPC5	13	92380805	Missense_Mutation	SNP	G	TCGA-V1-A9OL-01A-11D-A41K-08		92380805	22789073	29	19013											
PRC1	9055	broad.mit.edu	37	chr15	91513730	91513730	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttggccgtagcattggacatGgtggtagtgttcagctaggg	7	12	16	6	1	1	0	1	0	0	0	1	1	1	1	1	5	2	5	1	5	3	6			TCGA-V1-A9OL-01A-11D-A41K-08	TCGA-V1-A9OL-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10d212ad-7a3d-4bb9-849e-3bcf4fcdf741	8630a7bf-bde9-4726-ac4d-8641b8365de9	g.chr15:91513730G>T	ENST00000361188.5	-	12	2687	c.1476C>A	c.(1474-1476)acC>acA	p.T492T	PRC1-AS1_ENST00000554388.1_RNA|PRC1-AS1_ENST00000556200.1_RNA|PRC1_ENST00000394249.3_Silent_p.T492T|PRC1_ENST00000361919.3_Silent_p.T492T|PRC1_ENST00000442656.2_Silent_p.T451T					protein regulator of cytokinesis 1											endometrium(1)|kidney(2)|large_intestine(7)|lung(9)|ovary(3)|prostate(1)|skin(2)	25	Lung NSC(78;0.0987)|all_lung(78;0.175)					CATTGGACATGGTGGTAGTGT	0.502																																						ENST00000361188.5																			0				endometrium(1)|kidney(2)|large_intestine(7)|lung(9)|ovary(3)|prostate(1)|skin(2)	25						c.(1474-1476)acC>acA		protein regulator of cytokinesis 1							212	155	174					15																	91513730		2198	4298	6496	SO:0001819	synonymous_variant	9055				cytokinesis|mitotic spindle elongation	cytoplasm|nucleus|spindle microtubule|spindle pole	protein binding	g.chr15:91513730G>T	AF044588	CCDS32334.1, CCDS45352.1, CCDS45353.1, CCDS45353.2	15q26.1	2013-05-29		2006-07-07	ENSG00000198901	ENSG00000198901			9341	protein-coding gene	gene with protein product	"anaphase spindle elongation 1 homolog (S. cerevisiae)"	603484				9885575	Standard	NM_003981		Approved	ASE1	uc002bqm.4	O43663	OTTHUMG00000171685	ENST00000361188.5:c.1476C>A	15.37:g.91513730G>T						PRC1_ENST00000442656.2_Silent_p.T451T|PRC1-AS1_ENST00000554388.1_RNA|PRC1_ENST00000361919.3_Silent_p.T492T|PRC1-AS1_ENST00000556200.1_RNA|PRC1_ENST00000394249.3_Silent_p.T492T	p.T492T			O43663	PRC1_HUMAN			12	2687	-	Lung NSC(78;0.0987)|all_lung(78;0.175)		492			Unstructured, Arg/Lys rich.			Silent	SNP	ENST00000361188.5	37	c.1476C>A	CCDS45352.1																																																																																				0.502	PRC1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414760.1	NM_003981		3	53	1	0	0.150653	1	0.150653	3	53					T	91513730	G	T	91513730	2	4	387	1	0	0	0	0	0	0	0	1	12446	1335	47	5		5	PRC1	15	91513730	Silent	SNP	G	TCGA-V1-A9OL-01A-11D-A41K-08		91513730	11017662	30	19014											
ZNF423	23090	broad.mit.edu	37	chr16	49671795	49671795	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tcaggtggatctccagcacgGccaggctgttaaagtcccgc	8	8	12	13	2	2	0	1	0	1	0	4	1	3	1	3	4	1	3	3	4	2	1			TCGA-V1-A9OL-01A-11D-A41K-08	TCGA-V1-A9OL-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10d212ad-7a3d-4bb9-849e-3bcf4fcdf741	8630a7bf-bde9-4726-ac4d-8641b8365de9	g.chr16:49671795G>A	ENST00000561648.1	-	4	1321	c.1268C>T	c.(1267-1269)gCc>gTc	p.A423V	ZNF423_ENST00000535559.1_Missense_Mutation_p.A306V|ZNF423_ENST00000563137.2_Missense_Mutation_p.A363V|ZNF423_ENST00000567169.1_Missense_Mutation_p.A306V|ZNF423_ENST00000562520.1_Missense_Mutation_p.A363V|ZNF423_ENST00000262383.2_Missense_Mutation_p.A423V|ZNF423_ENST00000562871.1_Missense_Mutation_p.A363V	NM_001271620.1	NP_001258549.1	Q2M1K9	ZN423_HUMAN	zinc finger protein 423	423					cell differentiation (GO:0030154)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	89		all_cancers(37;0.0155)				CTCCAGCACGGCCAGGCTGTT	0.607																																						ENST00000561648.1																			0				breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	89						c.(1267-1269)gCc>gTc		zinc finger protein 423							92	81	85					16																	49671795		2198	4300	6498	SO:0001583	missense	23090				cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	g.chr16:49671795G>A	AB018303	CCDS32445.1, CCDS61930.1	16q12	2014-01-28				ENSG00000102935		"Zinc fingers, C2H2-type"	16762	protein-coding gene	gene with protein product	"OLF-1/EBF associated zinc finger gene", " Smad- and Olf-interacting zinc finger protein", "early B-cell factor associated zinc finger protein"	604557				9872452, 10660046	Standard	NM_001271620		Approved	KIAA0760, OAZ, Roaz, Ebfaz, Zfp104, NPHP14, JBTS19	uc031qwd.1	Q2M1K9		ENST00000561648.1:c.1268C>T	16.37:g.49671795G>A	ENSP00000455426:p.Ala423Val					ZNF423_ENST00000562871.1_Missense_Mutation_p.A363V|ZNF423_ENST00000562520.1_Missense_Mutation_p.A363V|ZNF423_ENST00000262383.2_Missense_Mutation_p.A423V|ZNF423_ENST00000563137.2_Missense_Mutation_p.A363V|ZNF423_ENST00000567169.1_Missense_Mutation_p.A306V|ZNF423_ENST00000535559.1_Missense_Mutation_p.A306V	p.A423V	NM_001271620.1	NP_001258549.1	Q2M1K9	ZN423_HUMAN			4	1321	-		all_cancers(37;0.0155)	423					O94860|Q76N04|Q9NZ13	Missense_Mutation	SNP	ENST00000561648.1	37	c.1268C>T	CCDS32445.1	.	.	.	.	.	.	.	.	.	.	G	18.29	3.591664	0.66219	.	.	ENSG00000102935	ENST00000262383;ENST00000535559	T;T	0.28255	1.62;1.62	5.05	5.05	0.67936	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);	0.000000	0.85682	D	0.000000	T	0.47154	0.1430	L	0.46947	1.48	0.54753	D	0.999985	D	0.59767	0.986	P	0.62014	0.897	T	0.30149	-0.9988	9	.	.	.	-20.2911	18.4335	0.90634	0.0:0.0:1.0:0.0	.	423	Q2M1K9	ZN423_HUMAN	V	423;306	ENSP00000262383:A423V;ENSP00000442321:A306V	.	A	-	2	0	ZNF423	48229296	1.000000	0.71417	0.996000	0.52242	0.995000	0.86356	7.863000	0.87023	2.346000	0.79739	0.561000	0.74099	GCC		0.607	ZNF423-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000423258.1	NM_015069		4	76	0	0	0	1	0	4	76					A	49671795	G	A	49671795	3	1	387	1	0	0	0	0	1	0	0	0	17895	1203	42	3	2606	3	ZNF423	16	49671795	Missense_Mutation	SNP	G	TCGA-V1-A9OL-01A-11D-A41K-08		49671795	40682958	31	19015											
ZFHX3	463	broad.mit.edu	37	chr16	72984599	72984599	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgcagctggaagttggccttGagctgggtgttgtagcggca	6	11	17	7	1	0	1	0	1	0	0	0	2	0	2	1	4	4	7	1	4	2	4	rs367709501		TCGA-V1-A9OL-01A-11D-A41K-08	TCGA-V1-A9OL-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10d212ad-7a3d-4bb9-849e-3bcf4fcdf741	8630a7bf-bde9-4726-ac4d-8641b8365de9	g.chr16:72984599G>C	ENST00000268489.5	-	3	3657	c.2985C>G	c.(2983-2985)ctC>ctG	p.L995L	ZFHX3_ENST00000397992.5_Silent_p.L81L	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	995					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|muscle organ development (GO:0007517)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of myoblast differentiation (GO:0045663)|regulation of neuron differentiation (GO:0045664)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	enzyme binding (GO:0019899)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				AGTTGGCCTTGAGCTGGGTGT	0.612																																						ENST00000268489.5																			0				NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153						c.(2983-2985)ctC>ctG		zinc finger homeobox 3		G	,	0,4396		0,0,2198	158	130	140		243,2985	3.2	1	16		140	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	ZFHX3	NM_001164766.1,NM_006885.3	,	0,1,6497	CC,CG,GG		0.0116,0.0,0.0077	,	81/2790,995/3704	72984599	1,12995	2198	4300	6498	SO:0001819	synonymous_variant	463				muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr16:72984599G>C	D10250	CCDS10908.1, CCDS54035.1	16q22.3	2012-03-09	2007-08-09	2007-08-09	ENSG00000140836	ENSG00000140836		"Zinc fingers, C2H2-type", "Homeoboxes / ZF class"	777	protein-coding gene	gene with protein product		104155	"AT-binding transcription factor 1"	ATBF1		1719379, 7592926	Standard	NM_006885		Approved	ZNF927	uc002fck.3	Q15911	OTTHUMG00000137599	ENST00000268489.5:c.2985C>G	16.37:g.72984599G>C						ZFHX3_ENST00000397992.5_Silent_p.L81L	p.L995L	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN			3	3657	-		Ovarian(137;0.13)	995					D3DWS8|O15101|Q13719	Silent	SNP	ENST00000268489.5	37	c.2985C>G	CCDS10908.1																																																																																				0.612	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269008.1	NM_006885		14	13	0	0	0	1	0	14	13					C	72984599	G	C	72984599	2	2	387	1	0	0	0	0	0	0	0	1	17631	1277	45	5		5	ZFHX3	16	72984599	Silent	SNP	G	TCGA-V1-A9OL-01A-11D-A41K-08	23312804	72984599	17370154	32	19016											
VAT1L	57687	broad.mit.edu	37	chr16	77859293	77859293	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcgtcacagcctatgtgatgCtgtttgaagttgccaacctc	8	13	9	11	1	1	2	1	2	0	0	3	2	1	2	3	0	4	3	3	0	3	3			TCGA-V1-A9OL-01A-11D-A41K-08	TCGA-V1-A9OL-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10d212ad-7a3d-4bb9-849e-3bcf4fcdf741	8630a7bf-bde9-4726-ac4d-8641b8365de9	g.chr16:77859293C>T	ENST00000302536.2	+	3	667	c.514C>T	c.(514-516)Ctg>Ttg	p.L172L		NM_020927.1	NP_065978.1	Q9HCJ6	VAT1L_HUMAN	vesicle amine transport 1-like	172							oxidoreductase activity (GO:0016491)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(10)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	24						CTATGTGATGCTGTTTGAAGT	0.527																																						ENST00000302536.2																			0				central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(10)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	24						c.(514-516)Ctg>Ttg		vesicle amine transport 1-like							98	76	83					16																	77859293		2198	4300	6498	SO:0001819	synonymous_variant	57687						oxidoreductase activity|zinc ion binding	g.chr16:77859293C>T	AB046796	CCDS32492.1	16q23.1	2014-09-09	2013-08-23		ENSG00000171724	ENSG00000171724			29315	protein-coding gene	gene with protein product			"vesicle amine transport protein 1 homolog (T. californica)-like"			10997877	Standard	NM_020927		Approved	KIAA1576	uc002ffg.1	Q9HCJ6	OTTHUMG00000176845	ENST00000302536.2:c.514C>T	16.37:g.77859293C>T							p.L172L	NM_020927.1	NP_065978.1	Q9HCJ6	VAT1L_HUMAN			3	667	+			172					Q8IYW8	Silent	SNP	ENST00000302536.2	37	c.514C>T	CCDS32492.1																																																																																				0.527	VAT1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434010.1	NM_020927		10	8	0	0	0	1	0	10	8					T	77859293	C	T	77859293	2	4	387	1	0	0	0	0	0	0	0	1	17127	796	28	3		3	VAT1L	16	77859293	Silent	SNP	C	TCGA-V1-A9OL-01A-11D-A41K-08	4874694	77859293	12495460	33	19017											
ACACA	31	broad.mit.edu	37	chr17	35538216	35538216	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctggaacctctttgattgcaGcaggtctttggtcacatatg	8	14	10	9	0	3	1	1	1	2	0	3	2	3	2	1	3	3	2	1	3	2	4			TCGA-V1-A9OL-01A-11D-A41K-08	TCGA-V1-A9OL-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10d212ad-7a3d-4bb9-849e-3bcf4fcdf741	8630a7bf-bde9-4726-ac4d-8641b8365de9	g.chr17:35538216G>C	ENST00000394406.2	-	40	4937	c.4747C>G	c.(4747-4749)Ctg>Gtg	p.L1583V	ACACA_ENST00000353139.5_Missense_Mutation_p.L1620V|ACACA_ENST00000335166.5_Missense_Mutation_p.L1505V|ACACA_ENST00000360679.3_Missense_Mutation_p.L1525V	NM_198836.1	NP_942133.1	Q13085	ACACA_HUMAN	acetyl-CoA carboxylase alpha	1583					acetyl-CoA metabolic process (GO:0006084)|biotin metabolic process (GO:0006768)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|lipid homeostasis (GO:0055088)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|malonyl-CoA biosynthetic process (GO:2001295)|multicellular organismal protein metabolic process (GO:0044268)|positive regulation of cellular metabolic process (GO:0031325)|protein homotetramerization (GO:0051289)|small molecule metabolic process (GO:0044281)|tissue homeostasis (GO:0001894)|triglyceride biosynthetic process (GO:0019432)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	acetyl-CoA carboxylase activity (GO:0003989)|ATP binding (GO:0005524)|biotin carboxylase activity (GO:0004075)|metal ion binding (GO:0046872)			NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	TTTGATTGCAGCAGGTCTTTG	0.433																																					Colon(23;82 258 739 2117 10493 24037 27661 34815 35438 36249)	ENST00000353139.5																			0				NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83						c.(4858-4860)Ctg>Gtg		acetyl-CoA carboxylase alpha	Biotin(DB00121)						225	204	211					17																	35538216		2203	4300	6503	SO:0001583	missense	31				acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding	g.chr17:35538216G>C	U19822	CCDS11317.1, CCDS11318.1, CCDS42302.1, CCDS42303.1	17q21	2014-05-06	2010-04-30		ENSG00000132142	ENSG00000278540	6.4.1.2		84	protein-coding gene	gene with protein product	"acetyl-CoA carboxylase 1"	200350	"acetyl-Coenzyme A carboxylase alpha"	ACAC, ACC			Standard	NM_198837		Approved	ACC1	uc002hno.3	Q13085	OTTHUMG00000188463	ENST00000394406.2:c.4747C>G	17.37:g.35538216G>C	ENSP00000377928:p.Leu1583Val					ACACA_ENST00000394406.2_Missense_Mutation_p.L1583V|ACACA_ENST00000360679.3_Missense_Mutation_p.L1525V|ACACA_ENST00000335166.5_Missense_Mutation_p.L1505V	p.L1620V	NM_198834.1|NM_198839.1	NP_942131.1|NP_942136.1	Q13085	ACACA_HUMAN			40	5339	-		Breast(25;0.00157)|Ovarian(249;0.15)	1583					B2RP68|Q6KEV6|Q6XDA8|Q7Z2G8|Q7Z561|Q7Z563|Q7Z564|Q86WB2|Q86WB3	Missense_Mutation	SNP	ENST00000394406.2	37	c.4858C>G	CCDS11317.1	.	.	.	.	.	.	.	.	.	.	G	16.62	3.173308	0.57584	.	.	ENSG00000132142	ENST00000353139;ENST00000360679;ENST00000394406;ENST00000452074;ENST00000335166;ENST00000427330	D;D;D;D	0.95853	-3.83;-3.82;-3.83;-3.82	5.37	5.37	0.77165	.	0.000000	0.85682	D	0.000000	D	0.97105	0.9054	M	0.74467	2.265	0.80722	D	1	D;D;P;P	0.71674	0.994;0.998;0.665;0.774	D;D;B;B	0.76575	0.925;0.988;0.114;0.228	D	0.96494	0.9366	10	0.46703	T	0.11	-12.9735	12.7754	0.57443	0.0753:0.0:0.9247:0.0	.	331;1620;1583;1525	F8W6G0;Q13085-4;Q13085;Q13085-2	.;.;ACACA_HUMAN;.	V	1620;1525;1583;1607;1505;331	ENSP00000344789:L1620V;ENSP00000353898:L1525V;ENSP00000377928:L1583V;ENSP00000335323:L1505V	ENSP00000335323:L1505V	L	-	1	2	ACACA	32612329	1.000000	0.71417	0.918000	0.36340	0.986000	0.74619	5.441000	0.66569	2.675000	0.91044	0.650000	0.86243	CTG		0.433	ACACA-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256696.1	NM_198836		48	83	0	0	0	1	0	48	83					C	35538216	G	C	35538216	3	2	387	1	0	0	0	0	1	0	0	0	106	962	34	5	2361	5	ACACA	17	35538216	Missense_Mutation	SNP	G	TCGA-V1-A9OL-01A-11D-A41K-08		35538216	45656994	34	19018											
DUS1L	64118	broad.mit.edu	37	chr17	80019841	80019841	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccccttctgctccttggtgcGtccgtgcaccgtcagcaact	4	11	9	17	3	2	0	1	0	1	0	4	0	4	0	5	1	5	3	5	1	1	2			TCGA-V1-A9OL-01A-11D-A41K-08	TCGA-V1-A9OL-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10d212ad-7a3d-4bb9-849e-3bcf4fcdf741	8630a7bf-bde9-4726-ac4d-8641b8365de9	g.chr17:80019841G>A	ENST00000354321.7	-	5	1014	c.529C>T	c.(529-531)Cgc>Tgc	p.R177C	DUS1L_ENST00000306796.5_Missense_Mutation_p.R177C			Q6P1R4	DUS1L_HUMAN	dihydrouridine synthase 1-like (S. cerevisiae)	177							flavin adenine dinucleotide binding (GO:0050660)|tRNA dihydrouridine synthase activity (GO:0017150)			breast(1)|endometrium(1)|lung(2)|ovary(1)|skin(1)	6	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0211)			TCCTTGGTGCGTCCGTGCACC	0.667																																						ENST00000354321.7																			0				breast(1)|endometrium(1)|lung(2)|ovary(1)|skin(1)	6						c.(529-531)Cgc>Tgc		dihydrouridine synthase 1-like (S. cerevisiae)							101	90	93					17																	80019841		2203	4300	6503	SO:0001583	missense	64118				tRNA processing		flavin adenine dinucleotide binding|tRNA dihydrouridine synthase activity	g.chr17:80019841G>A		CCDS32775.1	17q25.3	2005-08-09				ENSG00000169718			30086	protein-coding gene	gene with protein product						12477932	Standard	NM_022156		Approved	PP3111, DUS1	uc002kdr.4	Q6P1R4		ENST00000354321.7:c.529C>T	17.37:g.80019841G>A	ENSP00000346280:p.Arg177Cys					DUS1L_ENST00000306796.5_Missense_Mutation_p.R177C	p.R177C			Q6P1R4	DUS1L_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0211)		5	1014	-	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		177					A6NHV4|Q96AI3	Missense_Mutation	SNP	ENST00000354321.7	37	c.529C>T	CCDS32775.1	.	.	.	.	.	.	.	.	.	.	G	10.59	1.393786	0.25205	.	.	ENSG00000169718	ENST00000354321;ENST00000306796;ENST00000542088;ENST00000538833	T;T;T	0.76968	-1.06;-1.06;-1.06	4.12	4.12	0.48240	Aldolase-type TIM barrel (1);	0.115474	0.64402	D	0.000018	D	0.93054	0.7789	H	0.99238	4.48	0.80722	D	1	P;D;P	0.76494	0.944;0.999;0.938	P;D;D	0.72625	0.631;0.978;0.912	D	0.96289	0.9212	10	0.87932	D	0	-24.1328	16.5301	0.84355	0.0:0.0:1.0:0.0	.	50;177;46	B4DPG7;Q6P1R4;Q9BTJ3	.;DUS1L_HUMAN;.	C	177;177;50;45	ENSP00000346280:R177C;ENSP00000303515:R177C;ENSP00000445110:R45C	ENSP00000303515:R177C	R	-	1	0	DUS1L	77613130	1.000000	0.71417	1.000000	0.80357	0.420000	0.31355	4.244000	0.58728	2.122000	0.65172	0.557000	0.71058	CGC		0.667	DUS1L-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442347.1	NM_022156		29	40	0	0	0	1	0	29	40					A	80019841	G	A	80019841	3	1	387	1	0	0	0	0	1	0	0	0	4805	1145	40	1	928	1	DUS1L	17	80019841	Missense_Mutation	SNP	G	TCGA-V1-A9OL-01A-11D-A41K-08	44481625	80019841	1175369	35	19019											
FBN3	84467	broad.mit.edu	37	chr19	8196684	8196684	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtacagtggccgttcacgcAgatgccgggcgtctggcact	6	8	15	12	4	2	1	1	0	1	1	2	1	2	1	2	4	2	4	2	4	1	2			TCGA-V1-A9OL-01A-11D-A41K-08	TCGA-V1-A9OL-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10d212ad-7a3d-4bb9-849e-3bcf4fcdf741	8630a7bf-bde9-4726-ac4d-8641b8365de9	g.chr19:8196684A>T	ENST00000600128.1	-	15	2158	c.1744T>A	c.(1744-1746)Tgc>Agc	p.C582S	FBN3_ENST00000270509.2_Missense_Mutation_p.C582S|FBN3_ENST00000601739.1_Missense_Mutation_p.C582S			Q75N90	FBN3_HUMAN	fibrillin 3	582	EGF-like 7; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.					proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						CCGTTCACGCAGATGCCGGGC	0.672																																						ENST00000600128.1																			0				NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						c.(1744-1746)Tgc>Agc		fibrillin 3							24	26	25					19																	8196684		2203	4300	6503	SO:0001583	missense	84467					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent	g.chr19:8196684A>T		CCDS12196.1	19p13	2008-02-05							18794	protein-coding gene	gene with protein product		608529					Standard	NM_032447		Approved		uc002mjf.3	Q75N90		ENST00000600128.1:c.1744T>A	19.37:g.8196684A>T	ENSP00000470498:p.Cys582Ser					FBN3_ENST00000270509.2_Missense_Mutation_p.C582S|FBN3_ENST00000601739.1_Missense_Mutation_p.C582S	p.C582S			Q75N90	FBN3_HUMAN			15	2158	-			582			EGF-like 7; calcium-binding.		Q75N91|Q75N92|Q75N93|Q86SJ5|Q96JP8	Missense_Mutation	SNP	ENST00000600128.1	37	c.1744T>A	CCDS12196.1	.	.	.	.	.	.	.	.	.	.	a	14.45	2.537575	0.45176	.	.	ENSG00000142449	ENST00000270509	D	0.99429	-5.89	2.92	2.92	0.33932	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	U	0.000000	D	0.99680	0.9880	H	0.99042	4.41	0.58432	D	0.999998	D	0.76494	0.999	D	0.81914	0.995	D	0.98364	1.0550	10	0.39692	T	0.17	.	10.9744	0.47456	1.0:0.0:0.0:0.0	.	582	Q75N90	FBN3_HUMAN	S	582	ENSP00000270509:C582S	ENSP00000270509:C582S	C	-	1	0	FBN3	8102684	1.000000	0.71417	0.609000	0.28983	0.036000	0.12997	7.956000	0.87863	0.961000	0.38030	0.155000	0.16302	TGC		0.672	FBN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461428.2	NM_032447		5	6	0	0	0	1	0	5	6					T	8196684	A	T	8196684	3	4	387	1	0	0	0	0	1	0	0	0	5704	188	7	5	6885	5	FBN3	19	8196684	Missense_Mutation	SNP	A	TCGA-V1-A9OL-01A-11D-A41K-08		8196684	50932299	36	19020											
RGL3	57139	broad.mit.edu	37	chr19	11516074	11516074	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	cggacaggatggcgcgcaagGaggagaagttccgcagttct	10	6	16	9	4	1	1	0	0	1	1	2	5	2	4	1	5	0	4	1	5	2	2			TCGA-V1-A9OL-01A-11D-A41K-08	TCGA-V1-A9OL-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10d212ad-7a3d-4bb9-849e-3bcf4fcdf741	8630a7bf-bde9-4726-ac4d-8641b8365de9	g.chr19:11516074G>A	ENST00000380456.3	-	8	1088	c.1025C>T	c.(1024-1026)tCc>tTc	p.S342F	RGL3_ENST00000393423.3_Missense_Mutation_p.S342F	NM_001035223.2|NM_001161616.1	NP_001030300.2|NP_001155088.1	Q3MIN7	RGL3_HUMAN	ral guanine nucleotide dissociation stimulator-like 3	342	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				small GTPase mediated signal transduction (GO:0007264)	intracellular (GO:0005622)	Ral guanyl-nucleotide exchange factor activity (GO:0008321)			breast(1)|endometrium(4)|large_intestine(2)|lung(9)|ovary(1)|skin(1)	18						GGCGCGCAAGGAGGAGAAGTT	0.617																																					GBM(174;751 2067 17998 27979 33959)	ENST00000380456.3																			0				breast(1)|endometrium(4)|large_intestine(2)|lung(9)|ovary(1)|skin(1)	18						c.(1024-1026)tCc>tTc		ral guanine nucleotide dissociation stimulator-like 3							23	22	22					19																	11516074		2203	4299	6502	SO:0001583	missense	57139				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular		g.chr19:11516074G>A	BC014426	CCDS32910.1, CCDS54221.1	19p13.2	2008-02-05				ENSG00000205517			30282	protein-coding gene	gene with protein product						10869344	Standard	NM_001035223		Approved	FLJ32585	uc002mro.2	Q3MIN7		ENST00000380456.3:c.1025C>T	19.37:g.11516074G>A	ENSP00000369823:p.Ser342Phe					RGL3_ENST00000393423.3_Missense_Mutation_p.S342F	p.S342F	NM_001035223.2|NM_001161616.1	NP_001030300.2|NP_001155088.1	Q3MIN7	RGL3_HUMAN			8	1088	-			342			Ras-GEF.		B5ME84|B7ZL22|Q0P6G0	Missense_Mutation	SNP	ENST00000380456.3	37	c.1025C>T	CCDS32910.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.240645	0.79912	.	.	ENSG00000205517	ENST00000342684;ENST00000393423;ENST00000380456	T;T	0.41400	1.0;1.0	5.26	5.26	0.73747	Guanine-nucleotide dissociation stimulator CDC25 (4);Ras guanine nucleotide exchange factor, domain (1);	0.000000	0.85682	D	0.000000	T	0.77116	0.4083	H	0.97023	3.925	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;0.999;1.0;0.999	D	0.85524	0.1205	10	0.87932	D	0	.	17.6326	0.88113	0.0:0.0:1.0:0.0	.	342;342;342;139	Q3MIN7;B5ME84;B7ZL22;Q8TEP0	RGL3_HUMAN;.;.;.	F	139;342;342	ENSP00000377075:S342F;ENSP00000369823:S342F	ENSP00000344665:S139F	S	-	2	0	RGL3	11377074	1.000000	0.71417	0.134000	0.22075	0.585000	0.36419	9.041000	0.93788	2.461000	0.83175	0.563000	0.77884	TCC		0.617	RGL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421208.3	XM_290867		4	2	0	0	0	1	0	4	2					A	11516074	G	A	11516074	3	1	387	1	0	0	0	0	1	0	0	0	13278	1174	41	3	1173	3	RGL3	19	11516074	Missense_Mutation	SNP	G	TCGA-V1-A9OL-01A-11D-A41K-08	3319390	11516074	47612909	37	19021											
OR10H5	284433	broad.mit.edu	37	chr19	15904883	15904883	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggggctaaaccacacctccGtgtctgaattcatcctcgtt	9	11	8	13	2	2	1	1	1	1	0	5	1	4	1	4	2	1	2	4	2	3	3			TCGA-V1-A9OL-01A-11D-A41K-08	TCGA-V1-A9OL-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10d212ad-7a3d-4bb9-849e-3bcf4fcdf741	8630a7bf-bde9-4726-ac4d-8641b8365de9	g.chr19:15904883G>A	ENST00000308940.8	+	1	123	c.25G>A	c.(25-27)Gtg>Atg	p.V9M		NM_001004466.1	NP_001004466.1	Q8NGA6	O10H5_HUMAN	olfactory receptor, family 10, subfamily H, member 5	9						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(9)|ovary(1)	20						CCACACCTCCGTGTCTGAATT	0.572																																						ENST00000308940.8																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(9)|ovary(1)	20						c.(25-27)Gtg>Atg		olfactory receptor, family 10, subfamily H, member 5							215	180	191					19																	15904883		2203	4300	6503	SO:0001583	missense	284433				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr19:15904883G>A	AC011537	CCDS32940.1	19p13.12	2013-09-24			ENSG00000172519	ENSG00000172519		"GPCR / Class A : Olfactory receptors"	15389	protein-coding gene	gene with protein product							Standard	NM_001004466		Approved		uc010xos.2	Q8NGA6	OTTHUMG00000182284	ENST00000308940.8:c.25G>A	19.37:g.15904883G>A	ENSP00000310704:p.Val9Met						p.V9M	NM_001004466.1	NP_001004466.1	Q8NGA6	O10H5_HUMAN			1	123	+			9					Q6IFJ0|Q96R60	Missense_Mutation	SNP	ENST00000308940.8	37	c.25G>A	CCDS32940.1	.	.	.	.	.	.	.	.	.	.	.	10.60	1.396057	0.25205	.	.	ENSG00000172519	ENST00000308940	T	0.00327	8.09	3.48	-6.97	0.01616	.	0.736229	0.11525	N	0.555243	T	0.00300	0.0009	M	0.83692	2.655	0.09310	N	1	B	0.16396	0.017	B	0.21151	0.033	T	0.27640	-1.0068	10	0.66056	D	0.02	.	6.469	0.21997	0.3833:0.1247:0.4921:0.0	.	9	Q8NGA6	O10H5_HUMAN	M	9	ENSP00000310704:V9M	ENSP00000310704:V9M	V	+	1	0	OR10H5	15765883	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.471000	0.06631	-1.766000	0.01302	-1.158000	0.01797	GTG		0.572	OR10H5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460363.1			39	51	0	0	0	1	0	39	51					A	15904883	G	A	15904883	3	1	387	1	0	0	0	0	1	0	0	0	10909	1145	40	1	27	1	OR10H5	19	15904883	Missense_Mutation	SNP	G	TCGA-V1-A9OL-01A-11D-A41K-08	4388809	15904883	43224100	38	19022											
GRAMD1A	57655	broad.mit.edu	37	chr19	35512475	35512475	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgctcattgagaagaactcGtggagcggcattgaagacta	12	9	12	8	3	1	4	1	2	0	3	3	6	1	5	0	2	2	2	0	2	4	3			TCGA-V1-A9OL-01A-11D-A41K-08	TCGA-V1-A9OL-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10d212ad-7a3d-4bb9-849e-3bcf4fcdf741	8630a7bf-bde9-4726-ac4d-8641b8365de9	g.chr19:35512475G>A	ENST00000317991.5	+	14	1737	c.1545G>A	c.(1543-1545)tcG>tcA	p.S515S	GRAMD1A_ENST00000599564.1_Silent_p.S602S|GRAMD1A_ENST00000411896.2_Silent_p.S508S|GRAMD1A_ENST00000504615.2_Silent_p.S281S|CTD-2527I21.14_ENST00000605640.1_RNA	NM_020895.3	NP_065946.2	Q96CP6	GRM1A_HUMAN	GRAM domain containing 1A	515						integral component of membrane (GO:0016021)				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	19	all_lung(56;2.66e-08)|Lung NSC(56;4.13e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)			AGAAGAACTCGTGGAGCGGCA	0.582																																						ENST00000599564.1																			0				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	19						c.(1804-1806)tcG>tcA		GRAM domain containing 1A							69	73	72					19																	35512475		1945	4119	6064	SO:0001819	synonymous_variant	57655					integral to membrane		g.chr19:35512475G>A	AK074864	CCDS42546.1, CCDS46046.1	19q13.13	2008-02-05	2005-11-02	2005-11-02		ENSG00000089351			29305	protein-coding gene	gene with protein product			"KIAA1533"	KIAA1533		10819331	Standard	NM_020895		Approved	FLJ90346	uc010xse.1	Q96CP6		ENST00000317991.5:c.1545G>A	19.37:g.35512475G>A						CTD-2527I21.14_ENST00000605640.1_RNA|GRAMD1A_ENST00000317991.5_Silent_p.S515S|GRAMD1A_ENST00000411896.2_Silent_p.S508S|GRAMD1A_ENST00000504615.2_Silent_p.S281S	p.S602S			Q96CP6	GRM1A_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0849)		15	1877	+	all_lung(56;2.66e-08)|Lung NSC(56;4.13e-08)|Esophageal squamous(110;0.162)		515					A6NKY7|Q8NC77|Q9P1Z5	Silent	SNP	ENST00000317991.5	37	c.1806G>A	CCDS42546.1																																																																																				0.582	GRAMD1A-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000461557.1	NM_020895		26	41	0	0	0	1	0	26	41					A	35512475	G	A	35512475	2	1	387	1	0	0	0	0	0	0	0	1	6747	1132	40	1		1	GRAMD1A	19	35512475	Silent	SNP	G	TCGA-V1-A9OL-01A-11D-A41K-08	19607592	35512475	23616508	39	19023											
CCDC155	147872	broad.mit.edu	37	chr19	49910161	49910161	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agaacgggaagctgcttgccGagcgggatggagtgaaaaag	13	5	17	6	3	0	2	0	1	0	1	0	6	0	5	1	3	5	2	1	3	4	1			TCGA-V1-A9OL-01A-11D-A41K-08	TCGA-V1-A9OL-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10d212ad-7a3d-4bb9-849e-3bcf4fcdf741	8630a7bf-bde9-4726-ac4d-8641b8365de9	g.chr19:49910161G>A	ENST00000447857.3	+	10	1022	c.817G>A	c.(817-819)Gag>Aag	p.E273K		NM_144688.4	NP_653289.3	Q8N6L0	KASH5_HUMAN	coiled-coil domain containing 155	273						chromosome, telomeric region (GO:0000781)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(10)|ovary(1)|stomach(1)	22						GCTGCTTGCCGAGCGGGATGG	0.488																																						ENST00000447857.3																			0				NS(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(10)|ovary(1)|stomach(1)	22						c.(817-819)Gag>Aag		coiled-coil domain containing 155							47	50	50					19																	49910161		1949	4153	6102	SO:0001583	missense	147872					integral to membrane	calcium ion binding	g.chr19:49910161G>A		CCDS46140.1	19q13.33	2014-01-21			ENSG00000161609	ENSG00000161609			26520	protein-coding gene	gene with protein product							Standard	NM_144688		Approved	FLJ32658, KASH5	uc002pnm.2	Q8N6L0	OTTHUMG00000183170	ENST00000447857.3:c.817G>A	19.37:g.49910161G>A	ENSP00000404220:p.Glu273Lys						p.E273K	NM_144688.4	NP_653289.3	Q8N6L0	CC155_HUMAN			10	1022	+			273					Q96MC3	Missense_Mutation	SNP	ENST00000447857.3	37	c.817G>A	CCDS46140.1	.	.	.	.	.	.	.	.	.	.	G	11.63	1.694806	0.30052	.	.	ENSG00000161609	ENST00000447857	T	0.41400	1.0	5.29	4.24	0.50183	.	0.638535	0.15812	N	0.243404	T	0.46132	0.1377	M	0.71581	2.175	0.22648	N	0.998893	P;P	0.52316	0.78;0.952	B;P	0.45138	0.093;0.471	T	0.37934	-0.9684	10	0.33940	T	0.23	-25.3857	12.3251	0.55007	0.0:0.1705:0.8295:0.0	.	273;273	C9JGW3;Q8N6L0	.;CC155_HUMAN	K	273	ENSP00000404220:E273K	ENSP00000404220:E273K	E	+	1	0	CCDC155	54601973	0.942000	0.31987	0.686000	0.30086	0.191000	0.23601	2.264000	0.43302	1.387000	0.46486	0.650000	0.86243	GAG		0.488	CCDC155-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465436.2	NM_144688		4	10	0	0	0	1	0	4	10					A	49910161	G	A	49910161	3	1	387	1	0	0	0	0	1	0	0	0	2788	1059	37	2	851	2	CCDC155	19	49910161	Missense_Mutation	SNP	G	TCGA-V1-A9OL-01A-11D-A41K-08	14397686	49910161	9218822	40	19024											
C20orf79	140856	broad.mit.edu	37	chr20	18794834	18794834	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gttttgggcaaaatgaacccGcagaaggctttccttgccgg	9	10	12	10	2	0	2	0	1	0	1	1	2	1	2	3	3	2	4	3	3	4	4	rs543584703		TCGA-V1-A9OL-01A-11D-A41K-08	TCGA-V1-A9OL-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10d212ad-7a3d-4bb9-849e-3bcf4fcdf741	8630a7bf-bde9-4726-ac4d-8641b8365de9	g.chr20:18794834G>A	ENST00000377428.2	+	1	465	c.375G>A	c.(373-375)ccG>ccA	p.P125P	C20orf78_ENST00000463425.1_5'Flank|C20orf78_ENST00000278779.4_Intron	NM_178483.2	NP_848578.1	Q9UJQ7	SCP2D_HUMAN	SCP2 sterol-binding domain containing 1	125	SCP2.																AAATGAACCCGCAGAAGGCTT	0.498													g|||	1	0.000199681	8e-04	0	5008	,	,		17244	0		0	False		,,,				2504	0					ENST00000377428.2																			0											c.(373-375)ccG>ccA		SCP2 sterol-binding domain containing 1							52	57	55					20																	18794834		2203	4300	6503	SO:0001819	synonymous_variant	140856							g.chr20:18794834G>A	AL035563	CCDS13139.1	20p11.23	2012-10-29	2012-10-29	2012-10-29	ENSG00000132631	ENSG00000132631			16211	protein-coding gene	gene with protein product	"sterol carrier protein 2-like protein"		"chromosome 20 open reading frame 79"	C20orf79		16501878	Standard	NM_178483		Approved	dJ1068E13.2, HSD22	uc002wrk.3	Q9UJQ7	OTTHUMG00000031983	ENST00000377428.2:c.375G>A	20.37:g.18794834G>A						C20orf78_ENST00000278779.4_Intron	p.P125P	NM_178483.2	NP_848578.1					1	465	+								Q548A4	Silent	SNP	ENST00000377428.2	37	c.375G>A	CCDS13139.1																																																																																				0.498	SCP2D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078193.1	NM_178483		3	45	0	0	0	1	0	3	45					A	18794834	G	A	18794834	2	1	387	1	0	0	0	0	0	0	0	1	2119	1074	38	1		1	C20orf79	20	18794834	Silent	SNP	G	TCGA-V1-A9OL-01A-11D-A41K-08		18794834	44230686	41	19025											
EMILIN3	90187	broad.mit.edu	37	chr20	39991122	39991122	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagctgtgacagctcctggcGcagggccagctcccggccat	6	6	13	16	2	0	1	0	1	0	0	2	1	2	1	4	3	3	4	4	3	0	0			TCGA-V1-A9OL-01A-11D-A41K-08	TCGA-V1-A9OL-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10d212ad-7a3d-4bb9-849e-3bcf4fcdf741	8630a7bf-bde9-4726-ac4d-8641b8365de9	g.chr20:39991122G>A	ENST00000332312.3	-	4	1279	c.1087C>T	c.(1087-1089)Cgc>Tgc	p.R363C		NM_052846.1	NP_443078.1	Q9NT22	EMIL3_HUMAN	elastin microfibril interfacer 3	363						cytoplasm (GO:0005737)|proteinaceous extracellular matrix (GO:0005578)				biliary_tract(1)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(15)|ovary(1)|prostate(2)|skin(3)|urinary_tract(2)	30		Myeloproliferative disorder(115;0.00425)				AGCTCCTGGCGCAGGGCCAGC	0.672																																						ENST00000332312.3																			0				biliary_tract(1)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(15)|ovary(1)|prostate(2)|skin(3)|urinary_tract(2)	30						c.(1087-1089)Cgc>Tgc		elastin microfibril interfacer 3							13	15	14					20																	39991122		2202	4292	6494	SO:0001583	missense	90187					proteinaceous extracellular matrix		g.chr20:39991122G>A	AL031667	CCDS13316.1	20q12	2005-11-06	2004-03-02	2004-03-02	ENSG00000183798	ENSG00000183798		"EMI domain containing"	16123	protein-coding gene	gene with protein product	"chromosome 20 open reading frame 130"	608929	"elastin microfibril interfacer 5"	C20orf130, EMILIN5		12221002	Standard	NM_052846		Approved	dJ620E11.4	uc002xjy.1	Q9NT22	OTTHUMG00000046304	ENST00000332312.3:c.1087C>T	20.37:g.39991122G>A	ENSP00000332806:p.Arg363Cys						p.R363C	NM_052846.1	NP_443078.1	Q9NT22	EMIL3_HUMAN			4	1279	-		Myeloproliferative disorder(115;0.00425)	363					Q495S5|Q495S6|Q495S7|Q76KT4	Missense_Mutation	SNP	ENST00000332312.3	37	c.1087C>T	CCDS13316.1	.	.	.	.	.	.	.	.	.	.	G	17.05	3.290897	0.59976	.	.	ENSG00000183798	ENST00000332312	T	0.27720	1.65	5.14	4.12	0.48240	.	0.182769	0.42682	D	0.000673	T	0.46756	0.1409	M	0.64997	1.995	0.51482	D	0.99992	D	0.89917	1.0	D	0.64410	0.925	T	0.36504	-0.9745	9	.	.	.	-20.1125	10.4892	0.44741	0.0:0.0:0.556:0.444	.	363	Q9NT22	EMIL3_HUMAN	C	363	ENSP00000332806:R363C	.	R	-	1	0	EMILIN3	39424536	1.000000	0.71417	1.000000	0.80357	0.909000	0.53808	5.145000	0.64839	2.402000	0.81655	0.561000	0.74099	CGC		0.672	EMILIN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106876.2	XM_029741		4	19	0	0	0	1	0	4	19					A	39991122	G	A	39991122	3	1	387	1	0	0	0	0	1	0	0	0	5095	1087	38	1	1217	1	EMILIN3	20	39991122	Missense_Mutation	SNP	G	TCGA-V1-A9OL-01A-11D-A41K-08	21196288	39991122	23034398	42	19026											
GTSF1L	149699	broad.mit.edu	37	chr20	42354963	42354963	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgtcattttcacaaacaacCttttgaggaaaaaaagtctt	15	13	6	7	0	3	1	2	1	1	0	3	2	3	2	1	1	2	0	1	1	5	5	rs558143560		TCGA-V1-A9OL-01A-11D-A41K-08	TCGA-V1-A9OL-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10d212ad-7a3d-4bb9-849e-3bcf4fcdf741	8630a7bf-bde9-4726-ac4d-8641b8365de9	g.chr20:42354963C>A	ENST00000373003.1	-	1	675	c.372G>T	c.(370-372)aaG>aaT	p.K124N	GTSF1L_ENST00000373005.2_Missense_Mutation_p.K99N	NM_001008901.1|NM_176791.3	NP_001008901.1|NP_789761.1	Q9H1H1	GTSFL_HUMAN	gametocyte specific factor 1-like	124							metal ion binding (GO:0046872)			endometrium(1)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	5		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			CACAAACAACCTTTTGAGGAA	0.502													C|||	1	0.000199681	0	0	5008	,	,		21265	0		0	False		,,,				2504	0.001					ENST00000373003.1																			0				endometrium(1)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	5						c.(370-372)aaG>aaT		gametocyte specific factor 1-like							106	98	101					20																	42354963		2203	4300	6503	SO:0001583	missense	149699						metal ion binding	g.chr20:42354963C>A	AK058060	CCDS13323.1, CCDS33471.1	20q13.12	2007-11-27	2007-11-27	2007-11-27	ENSG00000124196	ENSG00000124196			16198	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 65", "family with sequence similarity 112, member A"	C20orf65, FAM112A			Standard	NM_176791		Approved	dJ1028D15.4	uc002xld.3	Q9H1H1	OTTHUMG00000032510	ENST00000373003.1:c.372G>T	20.37:g.42354963C>A	ENSP00000362094:p.Lys124Asn					GTSF1L_ENST00000373005.2_Missense_Mutation_p.K99N	p.K124N	NM_001008901.1|NM_176791.3	NP_001008901.1|NP_789761.1	Q9H1H1	GTSFL_HUMAN	COAD - Colon adenocarcinoma(18;0.0031)		1	675	-		Myeloproliferative disorder(115;0.00452)	124					Q5JWH5	Missense_Mutation	SNP	ENST00000373003.1	37	c.372G>T	CCDS13323.1	.	.	.	.	.	.	.	.	.	.	C	14.26	2.481734	0.44147	.	.	ENSG00000124196	ENST00000373003;ENST00000373005	T;T	0.54675	0.87;0.56	3.68	2.73	0.32206	.	0.103397	0.41097	D	0.000942	T	0.33847	0.0877	N	0.24115	0.695	0.32581	N	0.528437	P;P	0.47409	0.895;0.808	B;B	0.43754	0.43;0.226	T	0.36383	-0.9750	10	0.16896	T	0.51	-11.5991	6.3979	0.21622	0.0:0.8629:0.0:0.1371	.	124;99	Q9H1H1;Q5JWH5	GTSFL_HUMAN;.	N	124;99	ENSP00000362094:K124N;ENSP00000362096:K99N	ENSP00000362094:K124N	K	-	3	2	GTSF1L	41788377	1.000000	0.71417	1.000000	0.80357	0.782000	0.44232	1.367000	0.34204	1.103000	0.41568	0.430000	0.28490	AAG		0.502	GTSF1L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079313.1	NM_176791		45	60	1	0	3.43241e-23	1	4.09481e-23	45	60					A	42354963	C	A	42354963	3	1	387	1	0	0	0	0	1	0	0	0	6887	680	24	5	78	5	GTSF1L	20	42354963	Missense_Mutation	SNP	C	TCGA-V1-A9OL-01A-11D-A41K-08	2363841	42354963	20670557	43	19027											
AP1B1	162	broad.mit.edu	37	chr22	29750667	29750667	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cacgatgagattgatgttgcGcagggccacatactgcagct	10	9	12	10	2	0	2	0	2	0	1	0	4	0	2	1	1	4	4	1	1	1	3			TCGA-V1-A9OL-01A-11D-A41K-08	TCGA-V1-A9OL-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10d212ad-7a3d-4bb9-849e-3bcf4fcdf741	8630a7bf-bde9-4726-ac4d-8641b8365de9	g.chr22:29750667G>A	ENST00000405198.1	-	6	941	c.910C>T	c.(910-912)Cgc>Tgc	p.R304C	AP1B1_ENST00000415447.1_Missense_Mutation_p.R304C|AP1B1_ENST00000402502.1_Missense_Mutation_p.R304C|AP1B1_ENST00000357586.2_Missense_Mutation_p.R304C|AP1B1_ENST00000432560.2_Missense_Mutation_p.R304C|AP1B1_ENST00000356015.2_Missense_Mutation_p.R304C|AP1B1_ENST00000317368.7_Missense_Mutation_p.R304C			Q10567	AP1B1_HUMAN	adaptor-related protein complex 1, beta 1 subunit	304					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of defense response to virus by virus (GO:0050690)|viral process (GO:0016032)	clathrin adaptor complex (GO:0030131)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|Golgi membrane (GO:0000139)|lysosomal membrane (GO:0005765)|trans-Golgi network membrane (GO:0032588)	protein kinase binding (GO:0019901)|protein transporter activity (GO:0008565)|transporter activity (GO:0005215)			endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						TTGATGTTGCGCAGGGCCACA	0.592																																						ENST00000357586.2																			0				endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						c.(910-912)Cgc>Tgc		adaptor-related protein complex 1, beta 1 subunit							138	108	118					22																	29750667		2203	4300	6503	SO:0001583	missense	162				endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction	clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane	protein binding|protein transporter activity	g.chr22:29750667G>A	L13939	CCDS13855.1, CCDS13856.1, CCDS13856.2, CCDS54515.1	22q12.2	2010-06-18			ENSG00000100280	ENSG00000100280			554	protein-coding gene	gene with protein product		600157		ADTB1, CLAPB2		7987321, 8812422	Standard	NM_145730		Approved	BAM22, AP105A	uc003afj.3	Q10567	OTTHUMG00000151109	ENST00000405198.1:c.910C>T	22.37:g.29750667G>A	ENSP00000384194:p.Arg304Cys					AP1B1_ENST00000432560.2_Missense_Mutation_p.R304C|AP1B1_ENST00000405198.1_Missense_Mutation_p.R304C|AP1B1_ENST00000415447.1_Missense_Mutation_p.R304C|AP1B1_ENST00000402502.1_Missense_Mutation_p.R304C|AP1B1_ENST00000317368.7_Missense_Mutation_p.R304C|AP1B1_ENST00000356015.2_Missense_Mutation_p.R304C	p.R304C	NM_001127.3	NP_001118.3	Q10567	AP1B1_HUMAN			7	1096	-			304					C9JRD1|F8WDL0|P78436|Q20WL3|Q86X54	Missense_Mutation	SNP	ENST00000405198.1	37	c.910C>T	CCDS13855.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.117865	0.77323	.	.	ENSG00000100280	ENST00000357586;ENST00000356015;ENST00000432560;ENST00000405198;ENST00000317368;ENST00000402502;ENST00000415447;ENST00000421126	T;T;T;T;T;T;T;T	0.29397	1.57;1.57;1.57;1.57;1.57;1.57;1.57;1.57	4.75	4.75	0.60458	Clathrin/coatomer adaptor, adaptin-like, N-terminal (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.044900	0.85682	D	0.000000	T	0.59348	0.2187	M	0.82132	2.575	0.80722	D	1	D;D;D;D	0.89917	0.973;0.995;1.0;1.0	B;P;D;D	0.87578	0.388;0.491;0.993;0.998	T	0.65701	-0.6104	10	0.87932	D	0	-14.4935	17.5237	0.87793	0.0:0.0:1.0:0.0	.	304;304;304;304	F8WDL0;Q10567-2;Q10567;Q10567-3	.;.;AP1B1_HUMAN;.	C	304	ENSP00000350199:R304C;ENSP00000348297:R304C;ENSP00000400065:R304C;ENSP00000384194:R304C;ENSP00000319361:R304C;ENSP00000386071:R304C;ENSP00000387612:R304C;ENSP00000400022:R304C	ENSP00000319361:R304C	R	-	1	0	AP1B1	28080667	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.223000	0.51231	2.487000	0.83934	0.591000	0.81541	CGC		0.592	AP1B1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000321374.1	NM_001127		21	13	0	0	0	1	0	21	13					A	29750667	G	A	29750667	3	1	387	1	0	0	0	0	1	0	0	0	731	1087	38	1	2007	1	AP1B1	22	29750667	Missense_Mutation	SNP	G	TCGA-V1-A9OL-01A-11D-A41K-08		29750667	21553899	44	19028											
KAL1	3730	broad.mit.edu	37	chrX	8536357	8536357	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tccccagtacgttatggcttGcaattccacaacatagtcac	11	11	6	13	1	1	0	1	0	0	0	3	0	3	0	3	1	3	4	3	1	5	5			TCGA-V1-A9OL-01A-11D-A41K-08	TCGA-V1-A9OL-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10d212ad-7a3d-4bb9-849e-3bcf4fcdf741	8630a7bf-bde9-4726-ac4d-8641b8365de9	g.chrX:8536357G>A	ENST00000262648.3	-	8	1272	c.1123C>T	c.(1123-1125)Caa>Taa	p.Q375*		NM_000216.2	NP_000207.2	P23352	KALM_HUMAN	Kallmann syndrome 1 sequence	375	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cellular component movement (GO:0006928)|chemotaxis (GO:0006935)	extracellular space (GO:0005615)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|liver(1)|lung(6)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(1)	32						GTTATGGCTTGCAATTCCACA	0.438																																						ENST00000262648.3																			0				breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|liver(1)|lung(6)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(1)	32						c.(1123-1125)Caa>Taa		Kallmann syndrome 1 sequence							172	106	128					X																	8536357		2203	4300	6503	SO:0001587	stop_gained	3730				axon guidance|cell adhesion|cellular component movement	extracellular space|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|heparin binding|serine-type endopeptidase inhibitor activity	g.chrX:8536357G>A		CCDS14130.1	Xp22.32	2013-02-11			ENSG00000011201	ENSG00000011201		"WAP four-disulfide core domain containing", "Fibronectin type III domain containing"	6211	protein-coding gene	gene with protein product	"anosmin-1", "WAP four-disulfide core domain 19"	300836		KAL, ADMLX		11463336	Standard	NM_000216		Approved	KALIG-1, WFDC19	uc004csf.3	P23352	OTTHUMG00000021107	ENST00000262648.3:c.1123C>T	X.37:g.8536357G>A	ENSP00000262648:p.Gln375*						p.Q375*	NM_000216.2	NP_000207.2	P23352	KALM_HUMAN			8	1272	-			375			Fibronectin type-III 2.		B2RPF8	Nonsense_Mutation	SNP	ENST00000262648.3	37	c.1123C>T	CCDS14130.1	.	.	.	.	.	.	.	.	.	.	G	25.2	4.611318	0.87258	.	.	ENSG00000011201	ENST00000262648	.	.	.	3.96	3.96	0.45880	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.19590	T	0.45	-21.7786	14.6012	0.68443	0.0:0.0:1.0:0.0	.	.	.	.	X	375	.	ENSP00000262648:Q375X	Q	-	1	0	KAL1	8496357	1.000000	0.71417	0.451000	0.26982	0.067000	0.16453	7.422000	0.80217	1.608000	0.50180	0.594000	0.82650	CAA		0.438	KAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055692.1	NM_000216		13	19	0	0	0	1	0	13	19					A	8536357	G	A	8536357	4	1	387	1	0	0	0	0	0	1	0	0	7974	1328	46	3	947	3	KAL1	23	8536357	Nonsense_Mutation	SNP	G	TCGA-V1-A9OL-01A-11D-A41K-08		8536357	146734203	45	19029											
TRPC5	7224	broad.mit.edu	37	chrX	111156017	111156017	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggtgtgaattcagagaactgCgtgtccatcatcagagtggg	10	10	14	7	1	3	3	3	1	0	2	4	4	4	3	1	2	2	0	1	2	2	1			TCGA-V1-A9OL-01A-11D-A41K-08	TCGA-V1-A9OL-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10d212ad-7a3d-4bb9-849e-3bcf4fcdf741	8630a7bf-bde9-4726-ac4d-8641b8365de9	g.chrX:111156017C>A	ENST00000262839.2	-	3	1320	c.402G>T	c.(400-402)acG>acT	p.T134T		NM_012471.2	NP_036603.1	Q9UL62	TRPC5_HUMAN	transient receptor potential cation channel, subfamily C, member 5	134					axon guidance (GO:0007411)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|nervous system development (GO:0007399)|transmembrane transport (GO:0055085)	calcium channel complex (GO:0034704)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|inositol 1,4,5 trisphosphate binding (GO:0070679)|store-operated calcium channel activity (GO:0015279)			biliary_tract(1)|breast(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(38)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						CAGAGAACTGCGTGTCCATCA	0.458																																						ENST00000262839.2																			0				biliary_tract(1)|breast(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(38)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						c.(400-402)acG>acT		transient receptor potential cation channel, subfamily C, member 5							94	81	86					X																	111156017		2203	4300	6503	SO:0001819	synonymous_variant	7224				axon guidance	calcium channel complex|integral to plasma membrane	protein binding|store-operated calcium channel activity	g.chrX:111156017C>A	AF054568	CCDS14561.1	Xq23	2014-06-13			ENSG00000072315	ENSG00000072315		"Voltage-gated ion channels / Transient receptor potential cation channels"	12337	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 159"	300334				10493832, 16382100	Standard	NM_012471		Approved	PPP1R159	uc004epl.1	Q9UL62	OTTHUMG00000022212	ENST00000262839.2:c.402G>T	X.37:g.111156017C>A							p.T134T	NM_012471.2	NP_036603.1	Q9UL62	TRPC5_HUMAN			3	1320	-			134					B2RP53|O75233|Q5JXY8|Q9Y514	Silent	SNP	ENST00000262839.2	37	c.402G>T	CCDS14561.1																																																																																				0.458	TRPC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057945.1	NM_012471		5	28	1	0	3.59834e-05	1	3.76441e-05	5	28					A	111156017	C	A	111156017	2	1	387	1	0	0	0	0	0	0	0	1	16579	755	27	5		5	TRPC5	23	111156017	Silent	SNP	C	TCGA-V1-A9OL-01A-11D-A41K-08	102619660	111156017	44114543	46	19030											
MTOR	2475	broad.mit.edu	37	chr1	11190607	11190607	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcagtgaccttcttctgcagCggcgatggggtggggctgtt	4	12	16	9	2	3	1	1	1	2	0	3	2	3	1	1	5	2	3	1	5	0	3			TCGA-V1-A9OQ-01A-11D-A41K-08	TCGA-V1-A9OQ-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b85059c-7e9e-4d42-a942-12cd919eea93	286b7dd0-24eb-48eb-b0f0-f9171d52b85a	g.chr1:11190607C>T	ENST00000361445.4	-	39	5668	c.5592G>A	c.(5590-5592)ccG>ccA	p.P1864P	MTOR_ENST00000376838.1_Silent_p.P69P|MTOR_ENST00000495435.1_5'Flank	NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN	mechanistic target of rapamycin (serine/threonine kinase)	1864	FAT. {ECO:0000255|PROSITE- ProRule:PRU00534}.				cell growth (GO:0016049)|cellular response to hypoxia (GO:0071456)|cellular response to nutrient levels (GO:0031669)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|germ cell development (GO:0007281)|growth (GO:0040007)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|negative regulation of autophagy (GO:0010507)|negative regulation of cell size (GO:0045792)|negative regulation of macroautophagy (GO:0016242)|negative regulation of NFAT protein import into nucleus (GO:0051534)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|phosphatidylinositol-mediated signaling (GO:0048015)|phosphorylation (GO:0016310)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of gene expression (GO:0010628)|positive regulation of lamellipodium assembly (GO:0010592)|positive regulation of lipid biosynthetic process (GO:0046889)|positive regulation of myotube differentiation (GO:0010831)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein catabolic process (GO:0030163)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of carbohydrate utilization (GO:0043610)|regulation of fatty acid beta-oxidation (GO:0031998)|regulation of glycogen biosynthetic process (GO:0005979)|regulation of protein kinase activity (GO:0045859)|regulation of Rac GTPase activity (GO:0032314)|regulation of response to food (GO:0032095)|response to amino acid (GO:0043200)|response to nutrient (GO:0007584)|response to stress (GO:0006950)|ruffle organization (GO:0031529)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endomembrane system (GO:0012505)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|phosphatidylinositol 3-kinase complex (GO:0005942)|PML body (GO:0016605)|TORC1 complex (GO:0031931)|TORC2 complex (GO:0031932)	ATP binding (GO:0005524)|drug binding (GO:0008144)|kinase activity (GO:0016301)|phosphoprotein binding (GO:0051219)|protein serine/threonine kinase activity (GO:0004674)|ribosome binding (GO:0043022)|RNA polymerase III type 1 promoter DNA binding (GO:0001030)|RNA polymerase III type 2 promoter DNA binding (GO:0001031)|RNA polymerase III type 3 promoter DNA binding (GO:0001032)|TFIIIC-class transcription factor binding (GO:0001156)			breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149					Everolimus(DB01590)|Pimecrolimus(DB00337)|Sirolimus(DB00877)|Temsirolimus(DB06287)	TCTTCTGCAGCGGCGATGGGG	0.582																																						ENST00000361445.4																			0				breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149						c.(5590-5592)ccG>ccA		mechanistic target of rapamycin (serine/threonine kinase)							97	88	91					1																	11190607		2203	4300	6503	SO:0001819	synonymous_variant	2475				cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient|T cell costimulation|TOR signaling cascade	endoplasmic reticulum membrane|Golgi membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex|PML body|TORC1 complex|TORC2 complex	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity	g.chr1:11190607C>T	L34075	CCDS127.1	1p36	2014-09-17	2009-05-29	2009-05-29	ENSG00000198793	ENSG00000198793			3942	protein-coding gene	gene with protein product	"FK506 binding protein 12-rapamycin associated protein 2", "rapamycin target protein", "FKBP12-rapamycin complex-associated protein 1", "FKBP-rapamycin associated protein", "rapamycin associated protein FRAP2", "dJ576K7.1 (FK506 binding protein 12-rapamycin associated protein 1)", "rapamycin and FKBP12 target 1", "mammalian target of rapamycin"	601231	"FK506 binding protein 12-rapamycin associated protein 1"	FRAP, FRAP2, FRAP1		8008069, 8660990	Standard	NM_004958		Approved	RAFT1, RAPT1, FLJ44809	uc001asd.3	P42345	OTTHUMG00000002001	ENST00000361445.4:c.5592G>A	1.37:g.11190607C>T						MTOR_ENST00000376838.1_Silent_p.P69P	p.P1864P	NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN			39	5668	-			1864			FAT.		Q4LE76|Q5TER1|Q6LE87|Q96QG3|Q9Y4I3	Silent	SNP	ENST00000361445.4	37	c.5592G>A	CCDS127.1																																																																																				0.582	MTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005558.1	NM_004958		3	31	0	0	0	1	0	3	31					T	11190607	C	T	11190607	2	4	388	1	0	0	0	0	0	0	0	1	9954	755	27	1		1	MTOR	1	11190607	Silent	SNP	C	TCGA-V1-A9OQ-01A-11D-A41K-08		11190607	238060014	1	19031											
PRAMEF4	400735	broad.mit.edu	37	chr1	12943195	12943195	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agctccaggagtctgggtggAgtccagatgctcatcttcat	8	11	12	10	0	4	1	2	0	2	1	6	3	6	3	2	3	2	2	2	3	0	1			TCGA-V1-A9OQ-01A-11D-A41K-08	TCGA-V1-A9OQ-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b85059c-7e9e-4d42-a942-12cd919eea93	286b7dd0-24eb-48eb-b0f0-f9171d52b85a	g.chr1:12943195A>G	ENST00000235349.5	-	2	91	c.21T>C	c.(19-21)acT>acC	p.T7T		NM_001009611.2	NP_001009611.1	O60810	PRAM4_HUMAN	PRAME family member 4	7					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)					breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(3)|skin(1)	24	Ovarian(185;0.249)	Lung NSC(185;3.67e-05)|all_lung(284;4.03e-05)|Renal(390;0.000147)|Breast(348;0.000278)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GTCTGGGTGGAGTCCAGATGC	0.562																																						ENST00000235349.5																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(3)|skin(1)	24						c.(19-21)acT>acC		PRAME family member 4							125	135	132					1																	12943195		2187	4284	6471	SO:0001819	synonymous_variant	400735							g.chr1:12943195A>G		CCDS30592.1	1p36.21	2013-01-17			ENSG00000243073	ENSG00000243073		"-"	31971	protein-coding gene	gene with protein product							Standard	NM_001009611		Approved	RP5-845O24.6	uc001aun.2	O60810	OTTHUMG00000001987	ENST00000235349.5:c.21T>C	1.37:g.12943195A>G							p.T7T	NM_001009611.2	NP_001009611.1	O60810	PRAM4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)	2	91	-	Ovarian(185;0.249)	Lung NSC(185;3.67e-05)|all_lung(284;4.03e-05)|Renal(390;0.000147)|Breast(348;0.000278)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	7					Q5LJB5	Silent	SNP	ENST00000235349.5	37	c.21T>C	CCDS30592.1																																																																																				0.562	PRAMEF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005518.1	NM_001009611		16	149	0	0	0	1	0	16	149					G	12943195	A	G	12943195	2	3	388	1	0	0	0	0	0	0	0	1	12437	291	11	4		4	PRAMEF4	1	12943195	Silent	SNP	A	TCGA-V1-A9OQ-01A-11D-A41K-08	1752588	12943195	236307426	2	19032											
CSMD2	114784	broad.mit.edu	37	chr1	34038130	34038130	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acactgtggtgggacattgcGgttgctccataggcctgtgt	6	12	14	9	1	0	0	0	0	0	0	1	1	1	1	2	4	2	2	2	4	1	3			TCGA-V1-A9OQ-01A-11D-A41K-08	TCGA-V1-A9OQ-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b85059c-7e9e-4d42-a942-12cd919eea93	286b7dd0-24eb-48eb-b0f0-f9171d52b85a	g.chr1:34038130G>A	ENST00000373381.4	-	50	7914	c.7738C>T	c.(7738-7740)Cgc>Tgc	p.R2580C		NM_001281956.1|NM_052896.3	NP_001268885.1|NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	2582	Sushi 15. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				GGGACATTGCGGTTGCTCCAT	0.592																																						ENST00000373381.4																			0				NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246						c.(7738-7740)Cgc>Tgc		CUB and Sushi multiple domains 2							147	128	134					1																	34038130		2203	4300	6503	SO:0001583	missense	114784					integral to membrane|plasma membrane	protein binding	g.chr1:34038130G>A	AY210418	CCDS380.1, CCDS60082.1	1p34.3	2014-01-28			ENSG00000121904	ENSG00000121904			19290	protein-coding gene	gene with protein product		608398				11472063, 11572484	Standard	NM_001281956		Approved	KIAA1884	uc001bxn.1	Q7Z408	OTTHUMG00000011135	ENST00000373381.4:c.7738C>T	1.37:g.34038130G>A	ENSP00000362479:p.Arg2580Cys						p.R2580C	NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN			50	7914	-		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)	2582			Sushi 15.		B1AM50|E7EUA6|Q53TY4|Q5VT59|Q8N963|Q96Q03|Q9H4V7|Q9H4V8|Q9H4V9|Q9H4W0|Q9H4W1|Q9H4W2|Q9H4W3|Q9H4W4|Q9HCY5|Q9HCY6|Q9HCY7	Missense_Mutation	SNP	ENST00000373381.4	37	c.7738C>T		.	.	.	.	.	.	.	.	.	.	G	16.19	3.053000	0.55218	.	.	ENSG00000121904	ENST00000373381	T	0.65732	-0.17	5.65	1.23	0.21249	Complement control module (2);Sushi/SCR/CCP (3);	0.808927	0.11597	N	0.548176	T	0.55737	0.1939	L	0.38175	1.15	0.09310	N	1	P;P	0.42871	0.792;0.507	P;P	0.46144	0.505;0.505	T	0.46775	-0.9167	10	0.56958	D	0.05	.	8.2447	0.31682	0.0:0.4795:0.2893:0.2312	.	2582;2580	Q7Z408;E7EUA6	CSMD2_HUMAN;.	C	2580	ENSP00000362479:R2580C	ENSP00000241312:R2582C	R	-	1	0	CSMD2	33810717	0.004000	0.15560	0.813000	0.32504	0.811000	0.45836	0.535000	0.23114	0.262000	0.21774	0.591000	0.81541	CGC		0.592	CSMD2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_052896		10	63	0	0	0	1	0	10	63					A	34038130	G	A	34038130	3	1	388	1	0	0	0	0	1	0	0	0	3945	1116	39	2	2795	2	CSMD2	1	34038130	Missense_Mutation	SNP	G	TCGA-V1-A9OQ-01A-11D-A41K-08	21094935	34038130	215212491	3	19033											
KIAA0467	23334	broad.mit.edu	37	chr1	43913641	43913641	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aggctgagcggcacgttctgCggtcagcagatcccctacct	7	8	12	14	3	2	2	1	1	1	1	3	2	3	2	3	3	4	4	3	3	1	2			TCGA-V1-A9OQ-01A-11D-A41K-08	TCGA-V1-A9OQ-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b85059c-7e9e-4d42-a942-12cd919eea93	286b7dd0-24eb-48eb-b0f0-f9171d52b85a	g.chr1:43913641C>T	ENST00000562955.1	+	67	9391	c.9391C>T	c.(9391-9393)Cgg>Tgg	p.R3131W	SZT2_ENST00000372442.1_Splice_Site_p.R2289W|SZT2-AS1_ENST00000396885.2_RNA	NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN	seizure threshold 2 homolog (mouse)	3188					central nervous system development (GO:0007417)|corpus callosum morphogenesis (GO:0021540)|embryo development (GO:0009790)|pigmentation (GO:0043473)|post-embryonic development (GO:0009791)|regulation of superoxide dismutase activity (GO:1901668)	extracellular vesicular exosome (GO:0070062)|peroxisome (GO:0005777)				NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						GCACGTTCTGCGGTCAGCAGA	0.582																																						ENST00000562955.1																			0				NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						c.e67+1		seizure threshold 2 homolog (mouse)							83	80	81					1																	43913641		2203	4300	6503	SO:0001630	splice_region_variant	23334					peroxisome		g.chr1:43913641C>T	AB007936	CCDS30694.1, CCDS30694.2	1p34.2	2012-11-19	2011-06-10	2011-06-10	ENSG00000198198	ENSG00000198198			29040	protein-coding gene	gene with protein product	"seizure threshold 2 homolog A (mouse)", "seizure threshold 2 homolog B (mouse)"	615463	"chromosome 1 open reading frame 84", "KIAA0467"	C1orf84, KIAA0467		9455484	Standard	NM_015284		Approved	FLJ10387, SZT2B, RP11-506B15.1, FLJ34502, SZT2A	uc001cjk.3	Q5T011	OTTHUMG00000007423	ENST00000562955.1:c.9392+1C>T	1.37:g.43913641C>T						SZT2-AS1_ENST00000396885.2_RNA|SZT2_ENST00000372442.1_Splice_Site_p.R2289_splice	p.R3131_splice	NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN			67	9391	+			3188					A0PJK5|A7E2X4|O75055|Q5JUY7|Q5T012|Q5XKC7|Q6ZNI8|Q6ZT24|Q7Z636|Q8NAY9|Q9H5H7|Q9UFQ8	Splice_Site	SNP	ENST00000562955.1	37	c.9392_splice	CCDS30694.2	.	.	.	.	.	.	.	.	.	.	C	14.09	2.432693	0.43224	.	.	ENSG00000198198	ENST00000372442	.	.	.	5.39	3.45	0.39498	.	0.097261	0.64402	D	0.000002	T	0.59756	0.2217	L	0.43152	1.355	0.29034	N	0.885548	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.58736	-0.7584	9	0.56958	D	0.05	.	13.8447	0.63459	0.5402:0.4598:0.0:0.0	.	3188;3131	Q5T011;Q5T011-5	SZT2_HUMAN;.	W	2289	.	ENSP00000361519:R2289W	R	+	1	2	SZT2	43686228	0.397000	0.25270	0.975000	0.42487	0.942000	0.58702	0.691000	0.25467	0.692000	0.31613	0.563000	0.77884	CGG		0.582	SZT2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019517.3	NM_015284	Missense_Mutation	3	43	0	0	0	1	0	3	43					T	43913641	C	T	43913641	5	4	388	1	0	0	0	0	0	0	1	0	8178	782	27	1	7067	1	KIAA0467	1	43913641	Splice_Site	SNP	C	TCGA-V1-A9OQ-01A-11D-A41K-08	9875511	43913641	205336980	4	19034											
ATP5F1	515	broad.mit.edu	37	chr1	111996955	111996955	+	Frame_Shift_Del	DEL	T	T	-																															tgaggaattcttccagtttcTttatcctaaaactggtgtaa																										TCGA-V1-A9OQ-01A-11D-A41K-08	TCGA-V1-A9OQ-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b85059c-7e9e-4d42-a942-12cd919eea93	286b7dd0-24eb-48eb-b0f0-f9171d52b85a	g.chr1:111996955delT	ENST00000369722.3	+	3	806	c.200delT	c.(199-201)cttfs	p.L67fs	ATP5F1_ENST00000483994.1_Intron|ATP5F1_ENST00000369721.4_Intron	NM_001688.4	NP_001679.2	P24539	AT5F1_HUMAN	ATP synthase, H+ transporting, mitochondrial Fo complex, subunit B1	67					ATP catabolic process (GO:0006200)|ATP synthesis coupled proton transport (GO:0015986)|cellular metabolic process (GO:0044237)|mitochondrial ATP synthesis coupled proton transport (GO:0042776)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)|substantia nigra development (GO:0021762)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial proton-transporting ATP synthase complex (GO:0005753)|mitochondrial proton-transporting ATP synthase complex, coupling factor F(o) (GO:0000276)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	hydrogen ion transmembrane transporter activity (GO:0015078)|transmembrane transporter activity (GO:0022857)			breast(1)|cervix(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	8		all_cancers(81;8.16e-06)|all_epithelial(167;5.63e-06)|all_lung(203;0.000152)|Lung NSC(277;0.000301)		Lung(183;0.0238)|Colorectal(144;0.0296)|all cancers(265;0.0488)|Epithelial(280;0.0732)|COAD - Colon adenocarcinoma(174;0.114)|LUSC - Lung squamous cell carcinoma(189;0.135)		TTCCAGTTTCTTTATCCTAAA	0.423																																						ENST00000369722.3																			0				breast(1)|cervix(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	8						c.(199-201)ctfs		ATP synthase, H+ transporting, mitochondrial Fo complex, subunit B1							144	142	143					1																	111996955		2203	4300	6503	SO:0001589	frameshift_variant	515				ATP catabolic process|respiratory electron transport chain	mitochondrial matrix|mitochondrial proton-transporting ATP synthase complex, coupling factor F(o)	hydrogen ion transporting ATP synthase activity, rotational mechanism|protein binding	g.chr1:111996955delT	X60221	CCDS836.1	1p13.2	2012-10-12	2010-06-11		ENSG00000116459	ENSG00000116459		"Mitochondrial respiratory chain complex / Complex V", "ATPases / F-type"	840	protein-coding gene	gene with protein product		603270	"ATP synthase, H+ transporting, mitochondrial F0 complex, subunit b, isoform 1", "ATP synthase, H+ transporting, mitochondrial F0 complex, subunit B1"			1831354	Standard	XM_005270929		Approved		uc001ebc.3	P24539	OTTHUMG00000011745	ENST00000369722.3:c.200delT	1.37:g.111996955delT	ENSP00000358737:p.Leu67fs					ATP5F1_ENST00000369721.4_Intron|ATP5F1_ENST00000483994.1_Intron	p.L67fs	NM_001688.4	NP_001679.2	P24539	AT5F1_HUMAN		Lung(183;0.0238)|Colorectal(144;0.0296)|all cancers(265;0.0488)|Epithelial(280;0.0732)|COAD - Colon adenocarcinoma(174;0.114)|LUSC - Lung squamous cell carcinoma(189;0.135)	3	806	+		all_cancers(81;8.16e-06)|all_epithelial(167;5.63e-06)|all_lung(203;0.000152)|Lung NSC(277;0.000301)	67					Q9BQ68|Q9BRU8	Frame_Shift_Del	DEL	ENST00000369722.3	37	c.200delT	CCDS836.1																																																																																				0.423	ATP5F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032455.1	NM_001688		38	88						38	88	---	---	---	---	-	111996955	T	-	111996955	7	5	388	1	0	1	0	1	0	0	0	0	1152	1609	56	0	210	0	ATP5F1	1	111996955	Frame_Shift_Del	DEL	T	TCGA-V1-A9OQ-01A-11D-A41K-08	68083314	111996955	137253666	5	19035											
HIST2H2AC	8338	broad.mit.edu	37	chr1	149858550	149858550	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tggtcgtggcaaacaaggagGcaaggcccgcgccaaggcca	11	3	15	12	3	0	0	0	0	0	0	1	1	0	1	3	6	1	2	3	6	4	0			TCGA-V1-A9OQ-01A-11D-A41K-08	TCGA-V1-A9OQ-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b85059c-7e9e-4d42-a942-12cd919eea93	286b7dd0-24eb-48eb-b0f0-f9171d52b85a	g.chr1:149858550G>T	ENST00000331380.2	+	1	26	c.26G>T	c.(25-27)gGc>gTc	p.G9V	HIST2H2BE_ENST00000369155.2_5'Flank|BOLA1_ENST00000369153.2_5'Flank	NM_003517.2	NP_003508.1	Q16777	H2A2C_HUMAN	histone cluster 2, H2ac	9						extracellular vesicular exosome (GO:0070062)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|ovary(1)|skin(1)	20	Breast(34;0.0124)|all_hematologic(923;0.127)		STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221)			AAACAAGGAGGCAAGGCCCGC	0.567																																						ENST00000331380.2																			0				NS(1)|breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|ovary(1)|skin(1)	20						c.(25-27)gGc>gTc		histone cluster 2, H2ac							81	89	87					1																	149858550		2202	4300	6502	SO:0001583	missense	8338				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr1:149858550G>T	AY131973	CCDS937.1	1q21.2	2011-01-27	2006-10-11	2003-02-21	ENSG00000184260	ENSG00000184260		"Histones / Replication-dependent"	4738	protein-coding gene	gene with protein product		602797	"H2A histone family, member Q", "histone 2, H2ac"	H2A, H2AFQ		1469070, 9439656, 12408966	Standard	NM_003517		Approved	H2A/q	uc001etd.3	Q16777	OTTHUMG00000035825	ENST00000331380.2:c.26G>T	1.37:g.149858550G>T	ENSP00000332194:p.Gly9Val						p.G9V	NM_003517.2	NP_003508.1	Q16777	H2A2C_HUMAN	STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221)		1	26	+	Breast(34;0.0124)|all_hematologic(923;0.127)		9					Q6DRA7|Q8IUE5	Missense_Mutation	SNP	ENST00000331380.2	37	c.26G>T	CCDS937.1	.	.	.	.	.	.	.	.	.	.	G	14.78	2.636691	0.47049	.	.	ENSG00000184260	ENST00000331380	T	0.46451	0.87	5.81	5.81	0.92471	Histone-fold (2);Histone H2A (1);	0.000000	0.45361	D	0.000379	T	0.62146	0.2404	M	0.89601	3.045	0.80722	D	1	D	0.67145	0.996	P	0.56343	0.796	T	0.70741	-0.4789	10	0.87932	D	0	.	18.6409	0.91396	0.0:0.0:1.0:0.0	.	9	Q16777	H2A2C_HUMAN	V	9	ENSP00000332194:G9V	ENSP00000332194:G9V	G	+	2	0	HIST2H2AC	148125174	1.000000	0.71417	1.000000	0.80357	0.929000	0.56500	9.651000	0.98493	2.745000	0.94114	0.655000	0.94253	GGC		0.567	HIST2H2AC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087128.1	NM_003517		5	84	1	0	0.184627	1	0.184627	5	84					T	149858550	G	T	149858550	3	4	388	1	0	0	0	0	1	0	0	0	7178	1203	42	5	28	5	HIST2H2AC	1	149858550	Missense_Mutation	SNP	G	TCGA-V1-A9OQ-01A-11D-A41K-08	37861595	149858550	99392071	6	19036											
GON4L	54856	broad.mit.edu	37	chr1	155735616	155735617	+	Frame_Shift_Ins	INS	-	-	G																															cttcaggggtggatggtataINSggaagattcacagaattgcc																										TCGA-V1-A9OQ-01A-11D-A41K-08	TCGA-V1-A9OQ-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b85059c-7e9e-4d42-a942-12cd919eea93	286b7dd0-24eb-48eb-b0f0-f9171d52b85a	g.chr1:155735616_155735617insG	ENST00000368331.1	-	21	3695_3696	c.3647_3648insC	c.(3646-3648)cctfs	p.P1216fs	GON4L_ENST00000471341.1_5'UTR|GON4L_ENST00000437809.1_Frame_Shift_Ins_p.P1216fs|GON4L_ENST00000361040.5_Frame_Shift_Ins_p.P1216fs|GON4L_ENST00000271883.5_Frame_Shift_Ins_p.P1216fs	NM_001282858.1|NM_001282860.1	NP_001269787.1|NP_001269789.1	Q3T8J9	GON4L_HUMAN	gon-4-like (C. elegans)	1216					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	45	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)					TGGATGGTATAGGAAGATTCAC	0.49																																						ENST00000437809.1																			0				NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	45						c.(3646-3648)catfs		gon-4-like (C. elegans)																																				SO:0001589	frameshift_variant	54856				regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding	g.chr1:155735616_155735617insG	AB046826	CCDS1121.1, CCDS44242.1, CCDS60296.1	1q22	2013-10-31	2006-11-08	2006-02-16	ENSG00000116580	ENSG00000116580			25973	protein-coding gene	gene with protein product		610393	"gon-4 homolog (C.elegans)"	GON4		16545939, 21454521	Standard	XM_005245283		Approved	FLJ20203, GON-4	uc001fly.1	Q3T8J9	OTTHUMG00000014106	ENST00000368331.1:c.3648dupC	1.37:g.155735618_155735618dupG	ENSP00000357315:p.Pro1216fs					GON4L_ENST00000361040.5_Frame_Shift_Ins_p.H1216fs|GON4L_ENST00000271883.5_Frame_Shift_Ins_p.H1216fs|GON4L_ENST00000368331.1_Frame_Shift_Ins_p.H1216fs|GON4L_ENST00000471341.1_5'UTR	p.H1216fs			Q3T8J9	GON4L_HUMAN			21	3769_3770	-	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)		1216					B7ZBL4|Q14C93|Q3T8J8|Q5VYZ5|Q5W0D5|Q6AWA6|Q6P1Q6|Q7Z3L3|Q8IY79|Q9BQI1|Q9HCG6	Frame_Shift_Ins	INS	ENST00000368331.1	37	c.3647_3648insC																																																																																					0.49	GON4L-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_032292		16	42						16	42	---	---	---	---	G	155735617	-	G	155735616	7	5	388	1	0	1	1	0	0	0	0	0	6572	407	15	0	3239	0	GON4L	1	155735616	Frame_Shift_Ins	INS	-	TCGA-V1-A9OQ-01A-11D-A41K-08	5877066	155735616	93515005	7	19037											
VANGL2	57216	broad.mit.edu	37	chr1	160395042	160395042	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gatggcatcgttttcctcttAaaacgccaggacttcagcct	9	12	8	12	2	2	0	1	0	1	0	4	2	3	1	3	2	2	2	3	2	2	4			TCGA-V1-A9OQ-01A-11D-A41K-08	TCGA-V1-A9OQ-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b85059c-7e9e-4d42-a942-12cd919eea93	286b7dd0-24eb-48eb-b0f0-f9171d52b85a	g.chr1:160395042A>G	ENST00000368061.2	+	8	1914	c.1440A>G	c.(1438-1440)ttA>ttG	p.L480L		NM_020335.2	NP_065068.1	Q9ULK5	VANG2_HUMAN	VANGL planar cell polarity protein 2	480					anterior/posterior pattern specification (GO:0009952)|apical protein localization (GO:0045176)|cell migration involved in kidney development (GO:0035787)|cochlea morphogenesis (GO:0090103)|convergent extension involved in axis elongation (GO:0060028)|convergent extension involved in neural plate elongation (GO:0022007)|digestive tract morphogenesis (GO:0048546)|establishment of body hair planar orientation (GO:0048105)|establishment of planar polarity (GO:0001736)|establishment of planar polarity involved in neural tube closure (GO:0090177)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|glomerulus development (GO:0032835)|hair follicle development (GO:0001942)|heart looping (GO:0001947)|inner ear receptor stereocilium organization (GO:0060122)|kidney morphogenesis (GO:0060993)|lateral sprouting involved in lung morphogenesis (GO:0060490)|membranous septum morphogenesis (GO:0003149)|muscular septum morphogenesis (GO:0003150)|neural tube closure (GO:0001843)|nonmotile primary cilium assembly (GO:0035058)|orthogonal dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060488)|planar cell polarity pathway involved in axis elongation (GO:0003402)|planar cell polarity pathway involved in heart morphogenesis (GO:0061346)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|planar dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060489)|positive regulation of JUN kinase activity (GO:0043507)|post-anal tail morphogenesis (GO:0036342)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of Wnt signaling pathway (GO:0030111)|Rho protein signal transduction (GO:0007266)|somatic stem cell division (GO:0048103)|somatic stem cell maintenance (GO:0035019)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell pole (GO:0060187)|cell-cell junction (GO:0005911)|ER to Golgi transport vesicle (GO:0030134)|integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)		p.L480F(1)		biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(1)	37	all_cancers(52;1.08e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			TTTTCCTCTTAAAACGCCAGG	0.527																																						ENST00000368061.2																			1	Substitution - Missense(1)	p.L480F(1)	lung(1)	biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(1)	37						c.(1438-1440)ttA>ttG		VANGL planar cell polarity protein 2							91	79	83					1																	160395042		2203	4300	6503	SO:0001819	synonymous_variant	57216				apical protein localization|heart looping|nonmotile primary cilium assembly	apical plasma membrane|integral to membrane		g.chr1:160395042A>G	AB033041	CCDS30915.1	1q22-q23	2013-03-05	2013-03-05		ENSG00000162738	ENSG00000162738			15511	protein-coding gene	gene with protein product	"vang, van gogh-like 2", "loop-tail-associated protein", "strabismus"	600533	"vang (van gogh, Drosophila)-like 2, vang, van gogh-like 2 (Drosophila)", "vang-like 2 (van gogh, Drosophila)"			11431695	Standard	NM_020335		Approved	KIAA1215, LTAP, LPP1, STBM, STB1, STBM1, MGC119403, MGC119404	uc001fwc.2	Q9ULK5	OTTHUMG00000033122	ENST00000368061.2:c.1440A>G	1.37:g.160395042A>G							p.L480L	NM_020335.2	NP_065068.1	Q9ULK5	VANG2_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)		8	1914	+	all_cancers(52;1.08e-18)|all_hematologic(112;0.093)		480					D3DVE9|Q5T212	Silent	SNP	ENST00000368061.2	37	c.1440A>G	CCDS30915.1																																																																																				0.527	VANGL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080677.1	NM_020335		9	28	0	0	0	1	0	9	28					G	160395042	A	G	160395042	2	3	388	1	0	0	0	0	0	0	0	1	17117	359	13	4		4	VANGL2	1	160395042	Silent	SNP	A	TCGA-V1-A9OQ-01A-11D-A41K-08	4659426	160395042	88855579	8	19038											
TMCC2	9911	broad.mit.edu	37	chr1	205197784	205197784	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcttcccacctgccgggcgCggacctccggcctggggaga	4	5	15	17	5	0	1	0	0	0	1	2	3	2	2	6	5	1	1	6	5	0	1			TCGA-V1-A9OQ-01A-11D-A41K-08	TCGA-V1-A9OQ-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b85059c-7e9e-4d42-a942-12cd919eea93	286b7dd0-24eb-48eb-b0f0-f9171d52b85a	g.chr1:205197784C>T	ENST00000358024.3	+	1	481	c.92C>T	c.(91-93)gCg>gTg	p.A31V	TMCC2_ENST00000545499.1_5'Flank	NM_014858.3	NP_055673.2	O75069	TMCC2_HUMAN	transmembrane and coiled-coil domain family 2	31						integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(3)|pancreas(1)|skin(1)|urinary_tract(1)	20	Breast(84;0.0871)		BRCA - Breast invasive adenocarcinoma(75;0.117)			CTGCCGGGCGCGGACCTCCGG	0.672																																						ENST00000358024.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(3)|pancreas(1)|skin(1)|urinary_tract(1)	20						c.(91-93)gCg>gTg		transmembrane and coiled-coil domain family 2							30	34	33					1																	205197784		2203	4300	6503	SO:0001583	missense	9911					integral to membrane	protein binding	g.chr1:205197784C>T	AB001596	CCDS30984.1, CCDS55676.1, CCDS73010.1	1q32.1	2008-02-05	2005-07-13		ENSG00000133069	ENSG00000133069		"Transmembrane and coiled-coil domain containing"	24239	protein-coding gene	gene with protein product			"transmembrane and coiled-coil domains 2"			9455484	Standard	NM_014858		Approved	HUCEP11, FLJ38497	uc021pia.1	O75069	OTTHUMG00000037195	ENST00000358024.3:c.92C>T	1.37:g.205197784C>T	ENSP00000350718:p.Ala31Val						p.A31V	NM_014858.3	NP_055673.2	O75069	TMCC2_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.117)		1	481	+	Breast(84;0.0871)		31					A2RRH3|B7Z1P7|Q6ZN09	Missense_Mutation	SNP	ENST00000358024.3	37	c.92C>T	CCDS30984.1	.	.	.	.	.	.	.	.	.	.	C	17.08	3.297025	0.60086	.	.	ENSG00000133069	ENST00000358024	T	0.32515	1.45	4.88	3.89	0.44902	.	0.529873	0.17510	N	0.171645	T	0.16471	0.0396	N	0.14661	0.345	0.80722	D	1	B	0.23806	0.091	B	0.15052	0.012	T	0.08330	-1.0727	10	0.87932	D	0	.	6.3718	0.21485	0.0:0.7135:0.1881:0.0983	.	31	O75069	TMCC2_HUMAN	V	31	ENSP00000350718:A31V	ENSP00000350718:A31V	A	+	2	0	TMCC2	203464407	0.359000	0.24955	1.000000	0.80357	0.905000	0.53344	0.005000	0.13129	2.402000	0.81655	0.563000	0.77884	GCG		0.672	TMCC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000090383.1	NM_014858		5	38	0	0	0	1	0	5	38					T	205197784	C	T	205197784	3	4	388	1	0	0	0	0	1	0	0	0	15990	768	27	1	94	1	TMCC2	1	205197784	Missense_Mutation	SNP	C	TCGA-V1-A9OQ-01A-11D-A41K-08	44802742	205197784	44052837	9	19039											
SLC8A1	6546	broad.mit.edu	37	chr2	40656809	40656809	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccaggctgctgtcacaaaGaagacacgcaaatgcttaat	14	8	8	11	1	1	2	1	0	0	2	2	2	2	2	1	1	2	4	1	1	4	1			TCGA-V1-A9OQ-01A-11D-A41K-08	TCGA-V1-A9OQ-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b85059c-7e9e-4d42-a942-12cd919eea93	286b7dd0-24eb-48eb-b0f0-f9171d52b85a	g.chr2:40656809G>T	ENST00000403092.1	-	2	645	c.612C>A	c.(610-612)ttC>ttA	p.F204L	SLC8A1_ENST00000542024.1_Missense_Mutation_p.F204L|SLC8A1_ENST00000402441.1_Missense_Mutation_p.F204L|SLC8A1_ENST00000405269.1_Missense_Mutation_p.F204L|SLC8A1_ENST00000332839.4_Missense_Mutation_p.F204L|SLC8A1_ENST00000405901.3_Missense_Mutation_p.F204L|SLC8A1_ENST00000406391.2_Missense_Mutation_p.F204L|SLC8A1_ENST00000542756.1_Missense_Mutation_p.F204L|SLC8A1_ENST00000406785.2_Missense_Mutation_p.F204L|SLC8A1_ENST00000408028.2_Missense_Mutation_p.F204L			P32418	NAC1_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 1	204					blood coagulation (GO:0007596)|calcium ion export (GO:1901660)|calcium ion homeostasis (GO:0055074)|calcium ion import (GO:0070509)|calcium ion transport into cytosol (GO:0060402)|cardiac muscle cell development (GO:0055013)|cardiac muscle contraction (GO:0060048)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular response to caffeine (GO:0071313)|cellular response to reactive oxygen species (GO:0034614)|cellular sodium ion homeostasis (GO:0006883)|cytosolic calcium ion transport (GO:0060401)|embryonic heart tube development (GO:0035050)|embryonic placenta development (GO:0001892)|heart morphogenesis (GO:0003007)|ion transport (GO:0006811)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|muscle contraction (GO:0006936)|muscle fiber development (GO:0048747)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|post-embryonic development (GO:0009791)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|relaxation of cardiac muscle (GO:0055119)|relaxation of smooth muscle (GO:0044557)|sodium ion export (GO:0071436)|sodium ion import (GO:0097369)|transmembrane transport (GO:0055085)|vascular smooth muscle contraction (GO:0014829)	basolateral plasma membrane (GO:0016323)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|calcium:sodium antiporter activity (GO:0005432)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	CTGTCACAAAGAAGACACGCA	0.448																																						ENST00000406785.1																			0				NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100						c.(610-612)ttC>ttA		solute carrier family 8 (sodium/calcium exchanger), member 1	Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)						79	78	78					2																	40656809		2203	4300	6503	SO:0001583	missense	6546				cell communication|muscle contraction|platelet activation	integral to plasma membrane	calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding	g.chr2:40656809G>T		CCDS1806.1, CCDS46264.1, CCDS46265.1, CCDS59430.1	2p22.1	2013-07-15			ENSG00000183023	ENSG00000183023		"Solute carriers"	11068	protein-coding gene	gene with protein product	"Na+/Ca++ exchanger"	182305		NCX1		1559714	Standard	NM_021097		Approved		uc002rrx.3	P32418	OTTHUMG00000102183	ENST00000403092.1:c.612C>A	2.37:g.40656809G>T	ENSP00000384763:p.Phe204Leu					SLC8A1_ENST00000542756.1_Missense_Mutation_p.F204L|SLC8A1_ENST00000542024.1_Missense_Mutation_p.F204L|SLC8A1_ENST00000408028.2_Missense_Mutation_p.F204L|SLC8A1_ENST00000406391.2_Missense_Mutation_p.F204L|SLC8A1_ENST00000405901.3_Missense_Mutation_p.F204L|SLC8A1_ENST00000405269.1_Missense_Mutation_p.F204L|SLC8A1_ENST00000403092.1_Missense_Mutation_p.F204L|SLC8A1_ENST00000402441.1_Missense_Mutation_p.F204L|SLC8A1_ENST00000332839.4_Missense_Mutation_p.F204L	p.F204L			P32418	NAC1_HUMAN			2	801	-			204					A8K6N1|D6W595|O95849|Q4QQG6|Q587I6|Q59GN4|Q9UBL8|Q9UD55|Q9UDN1|Q9UDN2|Q9UKX6	Missense_Mutation	SNP	ENST00000403092.1	37	c.612C>A	CCDS1806.1	.	.	.	.	.	.	.	.	.	.	G	16.13	3.036937	0.54896	.	.	ENSG00000183023	ENST00000406785;ENST00000378715;ENST00000542756;ENST00000403092;ENST00000405901;ENST00000402441;ENST00000405269;ENST00000332839;ENST00000408028;ENST00000535962;ENST00000406391;ENST00000542024	T;T;T;T;T;T;T;T;T;T	0.62941	-0.01;-0.01;-0.01;-0.01;-0.01;-0.01;-0.01;-0.01;-0.01;-0.01	5.59	4.72	0.59763	Sodium/calcium exchanger membrane region (1);	0.000000	0.85682	D	0.000000	T	0.78142	0.4237	M	0.79011	2.435	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.979;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;0.986;1.0;0.995;1.0	T	0.80804	-0.1219	10	0.87932	D	0	.	12.2536	0.54611	0.0821:0.0:0.9179:0.0	.	204;204;204;204;204	P32418-4;P32418-2;P32418-3;F6VPY9;P32418	.;.;.;.;NAC1_HUMAN	L	204	ENSP00000383886:F204L;ENSP00000440727:F204L;ENSP00000384763:F204L;ENSP00000385678:F204L;ENSP00000385188:F204L;ENSP00000385535:F204L;ENSP00000332931:F204L;ENSP00000384908:F204L;ENSP00000385811:F204L;ENSP00000443515:F204L	ENSP00000332931:F204L	F	-	3	2	SLC8A1	40510313	1.000000	0.71417	1.000000	0.80357	0.828000	0.46876	3.559000	0.53756	1.385000	0.46445	-0.251000	0.11542	TTC		0.448	SLC8A1-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326065.1	NM_021097		13	23	1	0	6.72482e-11	1	7.59656e-11	13	23					T	40656809	G	T	40656809	3	4	388	1	0	0	0	0	1	0	0	0	14706	933	33	5	2457	5	SLC8A1	2	40656809	Missense_Mutation	SNP	G	TCGA-V1-A9OQ-01A-11D-A41K-08		40656809	202542564	10	19040			1	41		2	2	26	N	G_C	4.845353e-05
SLC8A1	6546	broad.mit.edu	37	chr2	40656834	40656834	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cacgcaaatgcttaatcttcCttgtctctccgtcaggcacc	8	12	6	15	2	3	0	1	0	2	0	6	0	5	0	3	1	1	3	3	1	2	3			TCGA-V1-A9OQ-01A-11D-A41K-08	TCGA-V1-A9OQ-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b85059c-7e9e-4d42-a942-12cd919eea93	286b7dd0-24eb-48eb-b0f0-f9171d52b85a	g.chr2:40656834C>G	ENST00000403092.1	-	2	620	c.587G>C	c.(586-588)aGg>aCg	p.R196T	SLC8A1_ENST00000542024.1_Missense_Mutation_p.R196T|SLC8A1_ENST00000402441.1_Missense_Mutation_p.R196T|SLC8A1_ENST00000405269.1_Missense_Mutation_p.R196T|SLC8A1_ENST00000332839.4_Missense_Mutation_p.R196T|SLC8A1_ENST00000405901.3_Missense_Mutation_p.R196T|SLC8A1_ENST00000406391.2_Missense_Mutation_p.R196T|SLC8A1_ENST00000542756.1_Missense_Mutation_p.R196T|SLC8A1_ENST00000406785.2_Missense_Mutation_p.R196T|SLC8A1_ENST00000408028.2_Missense_Mutation_p.R196T			P32418	NAC1_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 1	196					blood coagulation (GO:0007596)|calcium ion export (GO:1901660)|calcium ion homeostasis (GO:0055074)|calcium ion import (GO:0070509)|calcium ion transport into cytosol (GO:0060402)|cardiac muscle cell development (GO:0055013)|cardiac muscle contraction (GO:0060048)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular response to caffeine (GO:0071313)|cellular response to reactive oxygen species (GO:0034614)|cellular sodium ion homeostasis (GO:0006883)|cytosolic calcium ion transport (GO:0060401)|embryonic heart tube development (GO:0035050)|embryonic placenta development (GO:0001892)|heart morphogenesis (GO:0003007)|ion transport (GO:0006811)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|muscle contraction (GO:0006936)|muscle fiber development (GO:0048747)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|post-embryonic development (GO:0009791)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|relaxation of cardiac muscle (GO:0055119)|relaxation of smooth muscle (GO:0044557)|sodium ion export (GO:0071436)|sodium ion import (GO:0097369)|transmembrane transport (GO:0055085)|vascular smooth muscle contraction (GO:0014829)	basolateral plasma membrane (GO:0016323)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|calcium:sodium antiporter activity (GO:0005432)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	CTTAATCTTCCTTGTCTCTCC	0.463																																						ENST00000406785.1																			0				NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100						c.(586-588)aGg>aCg		solute carrier family 8 (sodium/calcium exchanger), member 1	Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)						81	78	79					2																	40656834		2203	4300	6503	SO:0001583	missense	6546				cell communication|muscle contraction|platelet activation	integral to plasma membrane	calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding	g.chr2:40656834C>G		CCDS1806.1, CCDS46264.1, CCDS46265.1, CCDS59430.1	2p22.1	2013-07-15			ENSG00000183023	ENSG00000183023		"Solute carriers"	11068	protein-coding gene	gene with protein product	"Na+/Ca++ exchanger"	182305		NCX1		1559714	Standard	NM_021097		Approved		uc002rrx.3	P32418	OTTHUMG00000102183	ENST00000403092.1:c.587G>C	2.37:g.40656834C>G	ENSP00000384763:p.Arg196Thr					SLC8A1_ENST00000542756.1_Missense_Mutation_p.R196T|SLC8A1_ENST00000542024.1_Missense_Mutation_p.R196T|SLC8A1_ENST00000408028.2_Missense_Mutation_p.R196T|SLC8A1_ENST00000406391.2_Missense_Mutation_p.R196T|SLC8A1_ENST00000405901.3_Missense_Mutation_p.R196T|SLC8A1_ENST00000405269.1_Missense_Mutation_p.R196T|SLC8A1_ENST00000403092.1_Missense_Mutation_p.R196T|SLC8A1_ENST00000402441.1_Missense_Mutation_p.R196T|SLC8A1_ENST00000332839.4_Missense_Mutation_p.R196T	p.R196T			P32418	NAC1_HUMAN			2	776	-			196					A8K6N1|D6W595|O95849|Q4QQG6|Q587I6|Q59GN4|Q9UBL8|Q9UD55|Q9UDN1|Q9UDN2|Q9UKX6	Missense_Mutation	SNP	ENST00000403092.1	37	c.587G>C	CCDS1806.1	.	.	.	.	.	.	.	.	.	.	C	18.58	3.654558	0.67472	.	.	ENSG00000183023	ENST00000406785;ENST00000378715;ENST00000542756;ENST00000403092;ENST00000405901;ENST00000402441;ENST00000405269;ENST00000332839;ENST00000408028;ENST00000535962;ENST00000406391;ENST00000542024	T;T;T;T;T;T;T;T;T;T	0.64618	-0.11;-0.11;-0.11;-0.11;-0.11;-0.11;-0.11;-0.11;-0.11;-0.11	5.59	5.59	0.84812	Sodium/calcium exchanger membrane region (1);	0.000000	0.85682	D	0.000000	D	0.83198	0.5202	M	0.89658	3.05	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.991;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;0.991;1.0;1.0;1.0	D	0.86401	0.1742	10	0.87932	D	0	.	17.1057	0.86662	0.0:1.0:0.0:0.0	.	196;196;196;196;196	P32418-4;P32418-2;P32418-3;F6VPY9;P32418	.;.;.;.;NAC1_HUMAN	T	196	ENSP00000383886:R196T;ENSP00000440727:R196T;ENSP00000384763:R196T;ENSP00000385678:R196T;ENSP00000385188:R196T;ENSP00000385535:R196T;ENSP00000332931:R196T;ENSP00000384908:R196T;ENSP00000385811:R196T;ENSP00000443515:R196T	ENSP00000332931:R196T	R	-	2	0	SLC8A1	40510338	1.000000	0.71417	0.990000	0.47175	0.933000	0.57130	7.663000	0.83820	2.648000	0.89879	0.563000	0.77884	AGG		0.463	SLC8A1-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326065.1	NM_021097		14	27	0	0	0	1	0	14	27					G	40656834	C	G	40656834	3	3	388	1	0	0	0	0	1	0	0	0	14706	681	24	5	2482	5	SLC8A1	2	40656834	Missense_Mutation	SNP	C	TCGA-V1-A9OQ-01A-11D-A41K-08	25	40656834	202542539	11	19041			1	41		2	2	26	N	G_C	4.845353e-05
PELI1	57162	broad.mit.edu	37	chr2	64323320	64323320	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	taaatacatttccacacaccGatatttctctccatattcca	13	14	1	13	1	1	0	0	0	1	0	5	1	4	0	4	0	1	0	4	0	5	7			TCGA-V1-A9OQ-01A-11D-A41K-08	TCGA-V1-A9OQ-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b85059c-7e9e-4d42-a942-12cd919eea93	286b7dd0-24eb-48eb-b0f0-f9171d52b85a	g.chr2:64323320G>A	ENST00000358912.4	-	6	1071	c.629C>T	c.(628-630)tCg>tTg	p.S210L		NM_020651.3	NP_065702.2	Q96FA3	PELI1_HUMAN	pellino E3 ubiquitin protein ligase 1	210					innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of T cell proliferation (GO:0042130)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cytokine production (GO:0001819)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of toll-like receptor 3 signaling pathway (GO:0034141)|positive regulation of toll-like receptor 4 signaling pathway (GO:0034145)|protein K48-linked ubiquitination (GO:0070936)|response to dsRNA (GO:0043331)|response to lipopolysaccharide (GO:0032496)|Toll signaling pathway (GO:0008063)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)	cytosol (GO:0005829)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|urinary_tract(1)	19						TCCACACACCGATATTTCTCT	0.418																																						ENST00000358912.4																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|urinary_tract(1)	19						c.(628-630)tCg>tTg		pellino E3 ubiquitin protein ligase 1							184	167	173					2																	64323320		2203	4300	6503	SO:0001583	missense	57162				innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol		g.chr2:64323320G>A		CCDS1876.1	2p13.3	2012-02-23	2012-02-23		ENSG00000197329	ENSG00000197329		"Pellino homologs"	8827	protein-coding gene	gene with protein product		614797	"pellino (Drosophila) homolog 1", "pellino homolog 1 (Drosophila)"			11306823, 16951688	Standard	NM_020651		Approved		uc002sct.4	Q96FA3	OTTHUMG00000129511	ENST00000358912.4:c.629C>T	2.37:g.64323320G>A	ENSP00000351789:p.Ser210Leu						p.S210L	NM_020651.3	NP_065702.2	Q96FA3	PELI1_HUMAN			6	1071	-			210					Q96SM0|Q9GZY5|Q9HCX0	Missense_Mutation	SNP	ENST00000358912.4	37	c.629C>T	CCDS1876.1	.	.	.	.	.	.	.	.	.	.	G	35	5.438397	0.96168	.	.	ENSG00000197329	ENST00000358912	T	0.59364	0.27	5.65	5.65	0.86999	.	0.052053	0.85682	D	0.000000	T	0.80964	0.4725	M	0.88906	2.99	0.80722	D	1	D	0.89917	1.0	D	0.70227	0.968	D	0.83639	0.0149	10	0.87932	D	0	-13.6183	20.0965	0.97849	0.0:0.0:1.0:0.0	.	210	Q96FA3	PELI1_HUMAN	L	210	ENSP00000351789:S210L	ENSP00000351789:S210L	S	-	2	0	PELI1	64176824	1.000000	0.71417	0.997000	0.53966	0.977000	0.68977	9.813000	0.99286	2.824000	0.97209	0.655000	0.94253	TCG		0.418	PELI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251686.1	NM_020651		25	76	0	0	0	1	0	25	76					A	64323320	G	A	64323320	3	1	388	1	0	0	0	0	1	0	0	0	11721	1059	37	2	635	2	PELI1	2	64323320	Missense_Mutation	SNP	G	TCGA-V1-A9OQ-01A-11D-A41K-08	23666486	64323320	178876053	12	19042											
TET3	200424	broad.mit.edu	37	chr2	74274785	74274785	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacccaaggagaagaagaagAagctcccaacaccagctgga	17	2	10	12	0	0	4	0	0	0	4	1	6	1	5	3	2	3	2	3	2	6	0	rs372872964		TCGA-V1-A9OQ-01A-11D-A41K-08	TCGA-V1-A9OQ-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b85059c-7e9e-4d42-a942-12cd919eea93	286b7dd0-24eb-48eb-b0f0-f9171d52b85a	g.chr2:74274785A>C	ENST00000409262.3	+	1	1336	c.1336A>C	c.(1336-1338)Aag>Cag	p.K446Q		NM_144993.1	NP_659430.1	O43151	TET3_HUMAN	tet methylcytosine dioxygenase 3	446					DNA demethylation (GO:0080111)|DNA demethylation of male pronucleus (GO:0044727)|histone H3-K4 trimethylation (GO:0080182)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein O-linked glycosylation (GO:0006493)	cytoplasm (GO:0005737)|female pronucleus (GO:0001939)|male pronucleus (GO:0001940)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methylcytosine dioxygenase activity (GO:0070579)			NS(1)|breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						GAAGAAGAAGAAGCTCCCAAC	0.597																																						ENST00000409262.3																			0				NS(1)|breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						c.(1336-1338)Aag>Cag		tet methylcytosine dioxygenase 3		A	GLN/LYS	0,3898		0,0,1949	33	40	38		1336	5.6	1	2		38	1,8241		0,1,4120	no	missense	TET3	NM_144993.1	53	0,1,6069	CC,CA,AA		0.0121,0.0,0.0082	probably-damaging	446/1661	74274785	1,12139	1949	4121	6070	SO:0001583	missense	200424						metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr2:74274785A>C		CCDS46339.1, CCDS46339.2	2p13.1	2011-09-30	2011-09-30		ENSG00000187605	ENSG00000187605			28313	protein-coding gene	gene with protein product		613555	"tet oncogene family member 3"			9455477	Standard	XM_005264187		Approved	MGC22014, hCG_40738	uc031roi.1	O43151	OTTHUMG00000152823	ENST00000409262.3:c.1336A>C	2.37:g.74274785A>C	ENSP00000386869:p.Lys446Gln						p.K446Q	NM_144993.1	NP_659430.1	O43151	TET3_HUMAN			1	1336	+			446					A6NEI3|Q86Z24|Q8TBM9	Missense_Mutation	SNP	ENST00000409262.3	37	c.1336A>C	CCDS46339.1	.	.	.	.	.	.	.	.	.	.	A	14.71	2.617028	0.46736	0.0	1.21E-4	ENSG00000187605	ENST00000305799;ENST00000409262;ENST00000233310	T;T	0.30182	1.54;2.42	5.55	5.55	0.83447	.	.	.	.	.	T	0.37517	0.1006	L	0.27053	0.805	0.40471	D	0.980341	D	0.69078	0.997	P	0.58520	0.84	T	0.16660	-1.0395	9	0.41790	T	0.15	.	14.6812	0.69017	1.0:0.0:0.0:0.0	.	446	O43151	TET3_HUMAN	Q	488;446;446	ENSP00000307803:K488Q;ENSP00000386869:K446Q	ENSP00000233310:K446Q	K	+	1	0	TET3	74128293	1.000000	0.71417	1.000000	0.80357	0.346000	0.29079	8.569000	0.90744	2.115000	0.64714	0.482000	0.46254	AAG		0.597	TET3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328141.4			5	11	0	0	0	1	0	5	11					C	74274785	A	C	74274785	3	2	388	1	0	0	0	0	1	0	0	0	15768	247	9	5	1338	5	TET3	2	74274785	Missense_Mutation	SNP	A	TCGA-V1-A9OQ-01A-11D-A41K-08	9951465	74274785	168924588	13	19043											
GALNT3	2591	broad.mit.edu	37	chr2	166626873	166626873	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catttgaatcctgaggtggaCggtcaaggacaggcttcaat	11	10	12	8	1	2	2	2	2	0	0	3	4	3	4	1	5	0	1	1	5	3	2	rs200762567		TCGA-V1-A9OQ-01A-11D-A41K-08	TCGA-V1-A9OQ-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b85059c-7e9e-4d42-a942-12cd919eea93	286b7dd0-24eb-48eb-b0f0-f9171d52b85a	g.chr2:166626873C>T	ENST00000392701.3	-	2	1113	c.338G>A	c.(337-339)cGt>cAt	p.R113H		NM_004482.3	NP_004473.2	Q14435	GALT3_HUMAN	polypeptide N-acetylgalactosaminyltransferase 3	113					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein O-linked glycosylation via serine (GO:0018242)|protein O-linked glycosylation via threonine (GO:0018243)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|manganese ion binding (GO:0030145)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			NS(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|skin(1)	20						CTGAGGTGGACGGTCAAGGAC	0.448																																						ENST00000392701.3																			0				NS(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|skin(1)	20						c.(337-339)cGt>cAt		UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 3 (GalNAc-T3)		C	HIS/ARG	2,4404	4.2+/-10.8	0,2,2201	158	144	149		338	5.7	1	2		149	0,8600		0,0,4300	yes	missense	GALNT3	NM_004482.3	29	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	probably-damaging	113/634	166626873	2,13004	2203	4300	6503	SO:0001583	missense	2591				protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine	Golgi cisterna membrane|integral to membrane|membrane fraction|nucleus|perinuclear region of cytoplasm	calcium ion binding|manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr2:166626873C>T		CCDS2226.1	2q24-q31	2014-03-13	2014-03-13		ENSG00000115339	ENSG00000115339	2.4.1.41	"Glycosyltransferase family 2 domain containing"	4125	protein-coding gene	gene with protein product	"polypeptide GalNAc transferase 3"	601756	"UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 3 (GalNAc-T3)"			9592121, 15133511	Standard	NM_004482		Approved	GalNAc-T3, HHS, HFTC	uc010fph.1	Q14435	OTTHUMG00000132157	ENST00000392701.3:c.338G>A	2.37:g.166626873C>T	ENSP00000376465:p.Arg113His						p.R113H	NM_004482.3	NP_004473.2	Q14435	GALT3_HUMAN			2	1113	-			113					Q53TG9|Q7Z476	Missense_Mutation	SNP	ENST00000392701.3	37	c.338G>A	CCDS2226.1	.	.	.	.	.	.	.	.	.	.	C	32	5.122026	0.94429	4.54E-4	0.0	ENSG00000115339	ENST00000392701;ENST00000412248	T;T	0.63255	0.26;-0.03	5.66	5.66	0.87406	.	0.000000	0.47455	U	0.000228	T	0.79941	0.4533	M	0.69823	2.125	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.985;0.999	T	0.80892	-0.1179	10	0.72032	D	0.01	.	19.7559	0.96291	0.0:1.0:0.0:0.0	.	113;113	Q14435;Q14435-2	GALT3_HUMAN;.	H	113	ENSP00000376465:R113H;ENSP00000412643:R113H	ENSP00000376465:R113H	R	-	2	0	GALNT3	166335119	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.786000	0.85741	2.656000	0.90262	0.655000	0.94253	CGT		0.448	GALNT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255205.2	NM_004482		8	83	0	0	0	1	0	8	83					T	166626873	C	T	166626873	3	4	388	1	0	0	0	0	1	0	0	0	6214	536	19	1	1603	1	GALNT3	2	166626873	Missense_Mutation	SNP	C	TCGA-V1-A9OQ-01A-11D-A41K-08	92352088	166626873	76572500	14	19044											
LRRC2	79442	broad.mit.edu	37	chr3	46586569	46586569	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccagaaagttcaaacacaaaCgcactgctccgtttgcctct	12	9	6	14	2	2	1	1	0	1	1	3	1	3	1	3	0	4	4	3	0	3	2			TCGA-V1-A9OQ-01A-11D-A41K-08	TCGA-V1-A9OQ-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b85059c-7e9e-4d42-a942-12cd919eea93	286b7dd0-24eb-48eb-b0f0-f9171d52b85a	g.chr3:46586569C>T	ENST00000395905.3	-	3	692	c.300G>A	c.(298-300)gcG>gcA	p.A100A	LRRC2_ENST00000496388.1_5'Flank|LRRC2_ENST00000296144.3_Silent_p.A100A	NM_024512.4	NP_078788.2	Q9BYS8	LRRC2_HUMAN	leucine rich repeat containing 2	100										breast(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)	17		Ovarian(412;0.0563)		OV - Ovarian serous cystadenocarcinoma(275;6.37e-05)|BRCA - Breast invasive adenocarcinoma(193;0.00133)|KIRC - Kidney renal clear cell carcinoma(197;0.0214)|Kidney(197;0.0254)		CAAACACAAACGCACTGCTCC	0.552																																						ENST00000395905.3																			0				breast(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)	17						c.(298-300)gcG>gcA		leucine rich repeat containing 2							249	215	227					3																	46586569		2203	4300	6503	SO:0001819	synonymous_variant	79442							g.chr3:46586569C>T	AJ308569	CCDS2741.1	3p21.3	2014-07-30	2003-11-19		ENSG00000163827	ENSG00000163827			14676	protein-coding gene	gene with protein product		607180	"leucine-rich repeat-containing 2"			11896456	Standard	NM_024512		Approved		uc010hji.3	Q9BYS8	OTTHUMG00000133479	ENST00000395905.3:c.300G>A	3.37:g.46586569C>T						LRRC2_ENST00000296144.3_Silent_p.A100A	p.A100A	NM_024512.4	NP_078788.2	Q9BYS8	LRRC2_HUMAN		OV - Ovarian serous cystadenocarcinoma(275;6.37e-05)|BRCA - Breast invasive adenocarcinoma(193;0.00133)|KIRC - Kidney renal clear cell carcinoma(197;0.0214)|Kidney(197;0.0254)	3	692	-		Ovarian(412;0.0563)	100					B2RDQ7|Q96LT5	Silent	SNP	ENST00000395905.3	37	c.300G>A	CCDS2741.1																																																																																				0.552	LRRC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257375.2			5	208	0	0	0	1	0	5	208					T	46586569	C	T	46586569	2	4	388	1	0	0	0	0	0	0	0	1	8976	523	19	1		1	LRRC2	3	46586569	Silent	SNP	C	TCGA-V1-A9OQ-01A-11D-A41K-08		46586569	151435861	15	19045											
SETD2	29072	broad.mit.edu	37	chr3	47161880	47161880	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgaagctcaccatcactttCagaatcactctctatttcct	10	14	3	14	0	5	2	4	1	1	1	7	2	6	2	2	0	1	1	2	0	3	3			TCGA-V1-A9OQ-01A-11D-A41K-08	TCGA-V1-A9OQ-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b85059c-7e9e-4d42-a942-12cd919eea93	286b7dd0-24eb-48eb-b0f0-f9171d52b85a	g.chr3:47161880C>A	ENST00000409792.3	-	3	4288	c.4246G>T	c.(4246-4248)Gaa>Taa	p.E1416*		NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2	1416					angiogenesis (GO:0001525)|cell migration involved in vasculogenesis (GO:0035441)|coronary vasculature morphogenesis (GO:0060977)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic placenta morphogenesis (GO:0060669)|forebrain development (GO:0030900)|histone H3-K36 trimethylation (GO:0097198)|mesoderm morphogenesis (GO:0048332)|mismatch repair (GO:0006298)|morphogenesis of a branching structure (GO:0001763)|neural tube closure (GO:0001843)|nucleosome organization (GO:0034728)|pericardium development (GO:0060039)|regulation of mRNA export from nucleus (GO:0010793)|regulation of transcription, DNA-templated (GO:0006355)|stem cell development (GO:0048864)|transcription elongation from RNA polymerase II promoter (GO:0006368)	chromosome (GO:0005694)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)			breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		CCATCACTTTCAGAATCACTC	0.423			"N, F, S, Mis"		clear cell renal carcinoma																																	ENST00000409792.3				Rec	yes		3	3p21.31	29072	"N, F, S, Mis"	SET domain containing 2			E			clear cell renal carcinoma		0				breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141						c.(4246-4248)Gaa>Taa		SET domain containing 2							171	165	167					3																	47161880		2203	4300	6503	SO:0001587	stop_gained	29072				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding	g.chr3:47161880C>A	AJ238403	CCDS2749.2	3p21.31	2014-09-17			ENSG00000181555	ENSG00000181555		"Chromatin-modifying enzymes / K-methyltransferases"	18420	protein-coding gene	gene with protein product		612778				16118227, 11461154	Standard	NM_014159		Approved	HYPB, HIF-1, KIAA1732, FLJ23184, KMT3A	uc003cqs.3	Q9BYW2	OTTHUMG00000133514	ENST00000409792.3:c.4246G>T	3.37:g.47161880C>A	ENSP00000386759:p.Glu1416*						p.E1416*	NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)	3	4288	-		Acute lymphoblastic leukemia(5;0.0169)	1416					O75397|O75405|Q17RW8|Q5BKS9|Q5QGN2|Q69YI5|Q6IN64|Q6ZN53|Q6ZS25|Q8N3R0|Q8TCN0|Q9C0D1|Q9H696|Q9NZW9	Nonsense_Mutation	SNP	ENST00000409792.3	37	c.4246G>T	CCDS2749.2	.	.	.	.	.	.	.	.	.	.	C	41	8.649670	0.98899	.	.	ENSG00000181555	ENST00000451092;ENST00000543224;ENST00000409792	.	.	.	5.18	5.18	0.71444	.	0.000000	0.56097	D	0.000022	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.51188	T	0.08	.	18.871	0.92315	0.0:1.0:0.0:0.0	.	.	.	.	X	1416	.	ENSP00000386759:E1416X	E	-	1	0	SETD2	47136884	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.642000	0.83385	2.690000	0.91761	0.563000	0.77884	GAA		0.423	SETD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257479.2	NM_014159		16	36	1	0	1.15088e-07	1	1.25363e-07	16	36					A	47161880	C	A	47161880	4	1	388	1	0	0	0	0	0	1	0	0	14131	835	29	5	3524	5	SETD2	3	47161880	Nonsense_Mutation	SNP	C	TCGA-V1-A9OQ-01A-11D-A41K-08	575311	47161880	150860550	16	19046											
RFT1	91869	broad.mit.edu	37	chr3	53126551	53126551	+	Frame_Shift_Del	DEL	A	A	-																															taaagcagttggccaagatgAagcccacgctgccacaccaa																										TCGA-V1-A9OQ-01A-11D-A41K-08	TCGA-V1-A9OQ-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b85059c-7e9e-4d42-a942-12cd919eea93	286b7dd0-24eb-48eb-b0f0-f9171d52b85a	g.chr3:53126551delA	ENST00000296292.3	-	12	1353	c.1292delT	c.(1291-1293)ttcfs	p.F431fs	RFT1_ENST00000394738.3_Frame_Shift_Del_p.F392fs|RP11-894J14.5_ENST00000607203.1_Intron	NM_052859.3	NP_443091.1	Q96AA3	RFT1_HUMAN	RFT1 homolog (S. cerevisiae)	431					carbohydrate transport (GO:0008643)|cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	integral component of membrane (GO:0016021)	lipid transporter activity (GO:0005319)			NS(1)|breast(1)|kidney(1)|lung(5)|skin(2)|urinary_tract(2)	12				BRCA - Breast invasive adenocarcinoma(193;6.98e-05)|Kidney(197;0.0017)|KIRC - Kidney renal clear cell carcinoma(197;0.00192)|OV - Ovarian serous cystadenocarcinoma(275;0.104)		GGCCAAGATGAAGCCCACGCT	0.567																																						ENST00000296292.3																			0				NS(1)|breast(1)|kidney(1)|lung(5)|skin(2)|urinary_tract(2)	12						c.(1291-1293)tcfs		RFT1 homolog (S. cerevisiae)							81	68	72					3																	53126551		2203	4300	6503	SO:0001589	frameshift_variant	91869				carbohydrate transport|dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane	lipid transporter activity	g.chr3:53126551delA	AJ318099	CCDS2869.1	3p21.1	2014-02-06	2005-01-26		ENSG00000163933	ENSG00000163933			30220	protein-coding gene	gene with protein product	"congenital disorder of glycosylation 1N"	611908	"RFT1, requiring fifty three 1 homolog (S. cerevisiae)"			12477932	Standard	NM_052859		Approved	CDG1N	uc003dgj.3	Q96AA3	OTTHUMG00000074035	ENST00000296292.3:c.1292delT	3.37:g.53126551delA	ENSP00000296292:p.Phe431fs					RFT1_ENST00000394738.3_Frame_Shift_Del_p.F392fs|RP11-894J14.5_ENST00000607203.1_Intron	p.F431fs	NM_052859.3	NP_443091.1	Q96AA3	RFT1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;6.98e-05)|Kidney(197;0.0017)|KIRC - Kidney renal clear cell carcinoma(197;0.00192)|OV - Ovarian serous cystadenocarcinoma(275;0.104)	12	1353	-			431					Q96J03	Frame_Shift_Del	DEL	ENST00000296292.3	37	c.1292delT	CCDS2869.1																																																																																				0.567	RFT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157136.2	NM_052859		5	4						5	4	---	---	---	---	-	53126551	A	-	53126551	7	5	388	1	0	1	0	1	0	0	0	0	13257	246	9	0	341	0	RFT1	3	53126551	Frame_Shift_Del	DEL	A	TCGA-V1-A9OQ-01A-11D-A41K-08	5964671	53126551	144895879	17	19047											
SHQ1	55164	broad.mit.edu	37	chr3	72873608	72873608	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	attttcttgttcctgactctTttccaaaaaggccatcattt	9	18	4	10	0	3	1	1	1	2	0	5	1	5	1	3	1	0	1	3	1	2	7			TCGA-V1-A9OQ-01A-11D-A41K-08	TCGA-V1-A9OQ-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b85059c-7e9e-4d42-a942-12cd919eea93	286b7dd0-24eb-48eb-b0f0-f9171d52b85a	g.chr3:72873608T>C	ENST00000325599.8	-	6	833	c.694A>G	c.(694-696)Aag>Gag	p.K232E	SHQ1_ENST00000463369.1_Missense_Mutation_p.K204E	NM_018130.2	NP_060600.2	Q6PI26	SHQ1_HUMAN	SHQ1, H/ACA ribonucleoprotein assembly factor	232					negative regulation of rRNA processing (GO:2000233)|positive regulation of apoptotic process (GO:0043065)|ribonucleoprotein complex assembly (GO:0022618)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	27		Prostate(10;0.00482)|Lung NSC(201;0.0339)|Myeloproliferative disorder(1037;0.204)		BRCA - Breast invasive adenocarcinoma(55;9.68e-05)|Epithelial(33;0.000563)|LUSC - Lung squamous cell carcinoma(21;0.00229)|Lung(16;0.00688)|KIRC - Kidney renal clear cell carcinoma(39;0.018)|Kidney(39;0.0213)		TCCTGACTCTTTTCCAAAAAG	0.353																																						ENST00000325599.8																			0				NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	27						c.(694-696)Aag>Gag		SHQ1, H/ACA ribonucleoprotein assembly factor							94	91	92					3																	72873608		2201	4298	6499	SO:0001583	missense	55164				ribonucleoprotein complex assembly	cytosol|nucleoplasm	protein binding	g.chr3:72873608T>C	BC025270	CCDS33788.1	3p13	2013-01-08	2013-01-08		ENSG00000144736	ENSG00000144736			25543	protein-coding gene	gene with protein product		613663	"SHQ1 homolog (S. cerevisiae)"			12477932	Standard	NM_018130		Approved	FLJ10539, Shq1p	uc003dpf.3	Q6PI26	OTTHUMG00000158814	ENST00000325599.8:c.694A>G	3.37:g.72873608T>C	ENSP00000315182:p.Lys232Glu					SHQ1_ENST00000463369.1_Missense_Mutation_p.K204E	p.K232E	NM_018130.2	NP_060600.2	Q6PI26	SHQ1_HUMAN		BRCA - Breast invasive adenocarcinoma(55;9.68e-05)|Epithelial(33;0.000563)|LUSC - Lung squamous cell carcinoma(21;0.00229)|Lung(16;0.00688)|KIRC - Kidney renal clear cell carcinoma(39;0.018)|Kidney(39;0.0213)	6	833	-		Prostate(10;0.00482)|Lung NSC(201;0.0339)|Myeloproliferative disorder(1037;0.204)	232					B4DL05|Q6MZJ4|Q7Z748|Q9H7E5|Q9NVS8	Missense_Mutation	SNP	ENST00000325599.8	37	c.694A>G	CCDS33788.1	.	.	.	.	.	.	.	.	.	.	T	4.622	0.115518	0.08831	.	.	ENSG00000144736	ENST00000325599;ENST00000463369	T;T	0.33865	1.43;1.39	5.61	1.96	0.26148	.	0.268756	0.37393	N	0.002117	T	0.16896	0.0406	N	0.16478	0.41	0.28889	N	0.893963	B	0.15473	0.013	B	0.14023	0.01	T	0.27434	-1.0074	10	0.07813	T	0.8	-8.0472	7.2291	0.26033	0.0:0.4084:0.0:0.5916	.	232	Q6PI26	SHQ1_HUMAN	E	232;204	ENSP00000315182:K232E;ENSP00000417452:K204E	ENSP00000315182:K232E	K	-	1	0	SHQ1	72956298	0.000000	0.05858	0.954000	0.39281	0.086000	0.17979	-0.151000	0.10175	0.413000	0.25759	0.533000	0.62120	AAG		0.353	SHQ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352310.1	NM_018130		21	29	0	0	0	1	0	21	29					C	72873608	T	C	72873608	3	2	388	1	0	0	0	0	1	0	0	0	14292	1850	64	4	1063	4	SHQ1	3	72873608	Missense_Mutation	SNP	T	TCGA-V1-A9OQ-01A-11D-A41K-08	19747057	72873608	125148822	18	19048											
PVRL3	25945	broad.mit.edu	37	chr3	110845029	110845029	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttttatgcattttaaaatctAggttggatggacaatggcct	11	16	9	5	0	1	0	0	0	1	0	1	2	1	2	1	4	1	2	1	4	5	6			TCGA-V1-A9OQ-01A-11D-A41K-08	TCGA-V1-A9OQ-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b85059c-7e9e-4d42-a942-12cd919eea93	286b7dd0-24eb-48eb-b0f0-f9171d52b85a	g.chr3:110845029A>G	ENST00000485303.1	+	5	1192		c.e5-1		PVRL3_ENST00000493615.1_Splice_Site|PVRL3_ENST00000319792.3_Splice_Site	NM_001243286.1|NM_015480.2	NP_001230215.1|NP_056295.1	Q9NQS3	PVRL3_HUMAN	poliovirus receptor-related 3						adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|fertilization (GO:0009566)|homophilic cell adhesion (GO:0007156)|lens morphogenesis in camera-type eye (GO:0002089)|retina morphogenesis in camera-type eye (GO:0060042)|single organismal cell-cell adhesion (GO:0016337)	apical junction complex (GO:0043296)|cell-cell adherens junction (GO:0005913)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	cell adhesion molecule binding (GO:0050839)|protein homodimerization activity (GO:0042803)			breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(3)	19						TTTAAAATCTAGGTTGGATGG	0.294																																						ENST00000485303.1																			0				breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(3)	19						c.e5-1		poliovirus receptor-related 3							57	55	56					3																	110845029		2202	4297	6499	SO:0001630	splice_region_variant	25945				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane	cell adhesion molecule binding|protein homodimerization activity	g.chr3:110845029A>G	AF282874	CCDS2957.1, CCDS58842.1, CCDS58843.1	3q13	2013-01-29			ENSG00000177707	ENSG00000177707		"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	17664	protein-coding gene	gene with protein product		607147				11024295	Standard	NM_015480		Approved	nectin-3, PPR3, PVRR3, DKFZP566B0846, CDw113, CD113	uc003dxt.2	Q9NQS3	OTTHUMG00000159239	ENST00000485303.1:c.918-1A>G	3.37:g.110845029A>G						PVRL3_ENST00000493615.1_Splice_Site|PVRL3_ENST00000319792.3_Splice_Site		NM_001243286.1|NM_015480.2	NP_001230215.1|NP_056295.1	Q9NQS3	PVRL3_HUMAN			5	1192	+								E9PFR0|Q6NVZ3|Q8NC05|Q8WVU4|Q9BVA9|Q9Y412	Splice_Site	SNP	ENST00000485303.1	37		CCDS2957.1	.	.	.	.	.	.	.	.	.	.	A	20.1	3.940118	0.73557	.	.	ENSG00000177707	ENST00000485303;ENST00000319792;ENST00000486596;ENST00000493615	.	.	.	5.49	5.49	0.81192	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.8259	0.63351	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PVRL3	112327719	1.000000	0.71417	0.997000	0.53966	0.983000	0.72400	7.388000	0.79795	2.205000	0.71048	0.477000	0.44152	.		0.294	PVRL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354045.1	NM_015480	Intron	4	38	0	0	0	1	0	4	38					G	110845029	A	G	110845029	5	3	388	1	0	0	0	0	0	0	1	0	12841	434	15	4	934	4	PVRL3	3	110845029	Splice_Site	SNP	A	TCGA-V1-A9OQ-01A-11D-A41K-08	37971421	110845029	87177401	19	19049											
IGSF10	285313	broad.mit.edu	37	chr3	151165044	151165044	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgctctcttcctcttcccaTctggtcagagtcctgaaatt	7	15	6	13	0	4	2	1	1	3	1	8	2	7	2	3	1	1	1	3	1	1	3			TCGA-V1-A9OQ-01A-11D-A41K-08	TCGA-V1-A9OQ-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b85059c-7e9e-4d42-a942-12cd919eea93	286b7dd0-24eb-48eb-b0f0-f9171d52b85a	g.chr3:151165044T>C	ENST00000282466.3	-	4	2724	c.2725A>G	c.(2725-2727)Atg>Gtg	p.M909V		NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	909					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)	extracellular region (GO:0005576)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			CCTCTTCCCATCTGGTCAGAG	0.433																																						ENST00000282466.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116						c.(2725-2727)Atg>Gtg		immunoglobulin superfamily, member 10							300	300	300					3																	151165044		2203	4300	6503	SO:0001583	missense	285313				cell differentiation|multicellular organismal development|ossification	extracellular region		g.chr3:151165044T>C	AY273815	CCDS3160.1	3q25.1	2013-01-11			ENSG00000152580	ENSG00000152580		"Immunoglobulin superfamily / I-set domain containing"	26384	protein-coding gene	gene with protein product						12477932	Standard	NM_178822		Approved	FLJ25972, CMF608	uc011bod.2	Q6WRI0	OTTHUMG00000159856	ENST00000282466.3:c.2725A>G	3.37:g.151165044T>C	ENSP00000282466:p.Met909Val						p.M909V	NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)		4	2724	-			909					Q86YJ9|Q8N772|Q8NA84	Missense_Mutation	SNP	ENST00000282466.3	37	c.2725A>G	CCDS3160.1	.	.	.	.	.	.	.	.	.	.	T	2.864	-0.235530	0.05944	.	.	ENSG00000152580	ENST00000282466	T	0.66995	-0.24	4.89	-0.606	0.11619	.	2.263860	0.01853	N	0.036025	T	0.37183	0.0994	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.36138	-0.9760	10	0.02654	T	1	.	0.1234	0.00067	0.3488:0.1806:0.1844:0.2861	.	909	Q6WRI0	IGS10_HUMAN	V	909	ENSP00000282466:M909V	ENSP00000282466:M909V	M	-	1	0	IGSF10	152647734	0.000000	0.05858	0.000000	0.03702	0.018000	0.09664	-0.893000	0.04127	-0.032000	0.13758	-0.468000	0.05107	ATG		0.433	IGSF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357782.1	NM_178822		9	177	0	0	0	1	0	9	177					C	151165044	T	C	151165044	3	2	388	1	0	0	0	0	1	0	0	0	7597	1435	50	4	5206	4	IGSF10	3	151165044	Missense_Mutation	SNP	T	TCGA-V1-A9OQ-01A-11D-A41K-08	40320015	151165044	46857386	20	19050											
DDX60	55601	broad.mit.edu	37	chr4	169204662	169204662	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aatagtttgagtcacgatgaTtttcgaagagactgtttcta	12	15	9	5	2	2	3	1	2	1	1	3	6	2	3	0	0	0	2	0	0	4	6			TCGA-V1-A9OQ-01A-11D-A41K-08	TCGA-V1-A9OQ-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b85059c-7e9e-4d42-a942-12cd919eea93	286b7dd0-24eb-48eb-b0f0-f9171d52b85a	g.chr4:169204662T>C	ENST00000393743.3	-	13	1948	c.1657A>G	c.(1657-1659)Atc>Gtc	p.I553V		NM_017631.5	NP_060101.3	Q8IY21	DDX60_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60	553					defense response to virus (GO:0051607)|innate immune response (GO:0045087)|positive regulation of MDA-5 signaling pathway (GO:1900245)|positive regulation of RIG-I signaling pathway (GO:1900246)|response to virus (GO:0009615)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)	ATP binding (GO:0005524)|double-stranded DNA binding (GO:0003690)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|single-stranded RNA binding (GO:0003727)			breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|urinary_tract(4)	63		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.0485)		GTCACGATGATTTTCGAAGAG	0.348																																						ENST00000393743.3																			0				breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|urinary_tract(4)	63						c.(1657-1659)Atc>Gtc		DEAD (Asp-Glu-Ala-Asp) box polypeptide 60							67	69	68					4																	169204662		2203	4300	6503	SO:0001583	missense	55601						ATP binding|ATP-dependent helicase activity|RNA binding	g.chr4:169204662T>C	AK001649	CCDS34097.1	4q32.3	2010-02-17			ENSG00000137628	ENSG00000137628			25942	protein-coding gene	gene with protein product		613974				12477932	Standard	NM_017631		Approved	FLJ20035	uc003irp.3	Q8IY21	OTTHUMG00000161350	ENST00000393743.3:c.1657A>G	4.37:g.169204662T>C	ENSP00000377344:p.Ile553Val						p.I553V	NM_017631.5	NP_060101.3	Q8IY21	DDX60_HUMAN		GBM - Glioblastoma multiforme(119;0.0485)	13	1948	-		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)	553					Q6PK35|Q9NVE3	Missense_Mutation	SNP	ENST00000393743.3	37	c.1657A>G	CCDS34097.1	.	.	.	.	.	.	.	.	.	.	T	0.001	-2.916476	0.00055	.	.	ENSG00000137628	ENST00000393743	T	0.16073	2.37	4.39	-8.79	0.00820	.	1.603320	0.03786	N	0.262129	T	0.02848	0.0085	N	0.00230	-1.795	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.29579	-1.0007	10	0.02654	T	1	.	8.7433	0.34571	0.0633:0.5297:0.1085:0.2985	.	553	Q8IY21	DDX60_HUMAN	V	553	ENSP00000377344:I553V	ENSP00000377344:I553V	I	-	1	0	DDX60	169441237	0.000000	0.05858	0.101000	0.21167	0.133000	0.20885	-2.573000	0.00912	-2.472000	0.00529	-1.516000	0.00938	ATC		0.348	DDX60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364622.1	NM_017631		9	59	0	0	0	1	0	9	59					C	169204662	T	C	169204662	3	2	388	1	0	0	0	0	1	0	0	0	4378	1493	52	4	3585	4	DDX60	4	169204662	Missense_Mutation	SNP	T	TCGA-V1-A9OQ-01A-11D-A41K-08		169204662	21949614	21	19051											
ADAMTS16	170690	broad.mit.edu	37	chr5	5239847	5239847	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cccggagtatccgcatctatGaaatgaacgtctctacctcc	10	10	7	14	3	2	2	0	2	2	0	5	3	4	3	4	1	2	2	4	1	5	3			TCGA-V1-A9OQ-01A-11D-A41K-08	TCGA-V1-A9OQ-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b85059c-7e9e-4d42-a942-12cd919eea93	286b7dd0-24eb-48eb-b0f0-f9171d52b85a	g.chr5:5239847G>C	ENST00000274181.7	+	16	2470	c.2332G>C	c.(2332-2334)Gaa>Caa	p.E778Q		NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	778	Spacer.				branching involved in ureteric bud morphogenesis (GO:0001658)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						CCGCATCTATGAAATGAACGT	0.483																																						ENST00000274181.7																			0				breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						c.(2332-2334)Gaa>Caa		ADAM metallopeptidase with thrombospondin type 1 motif, 16							150	141	144					5																	5239847		1892	4111	6003	SO:0001583	missense	170690				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:5239847G>C	AJ315734	CCDS43299.1	5p15	2008-07-18	2005-08-19		ENSG00000145536	ENSG00000145536		"ADAM metallopeptidases with thrombospondin type 1 motif"	17108	protein-coding gene	gene with protein product		607510	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 16"			11867212	Standard	NM_139056		Approved	ADAMTS16s	uc003jdl.3	Q8TE57	OTTHUMG00000161663	ENST00000274181.7:c.2332G>C	5.37:g.5239847G>C	ENSP00000274181:p.Glu778Gln						p.E778Q	NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN			16	2470	+			778			Spacer.		C6G490|Q8IVE2	Missense_Mutation	SNP	ENST00000274181.7	37	c.2332G>C	CCDS43299.1	.	.	.	.	.	.	.	.	.	.	G	24.3	4.520844	0.85495	.	.	ENSG00000145536	ENST00000274181;ENST00000536857	T	0.55760	0.5	5.56	5.56	0.83823	ADAM-TS Spacer 1 (1);	0.000000	0.85682	D	0.000000	T	0.73690	0.3619	M	0.80746	2.51	0.80722	D	1	D;D	0.89917	1.0;0.998	D;D	0.91635	0.999;0.966	T	0.70260	-0.4921	10	0.24483	T	0.36	.	18.2879	0.90120	0.0:0.0:1.0:0.0	.	778;778	Q8TE57;Q8TE57-2	ATS16_HUMAN;.	Q	778	ENSP00000274181:E778Q	ENSP00000274181:E778Q	E	+	1	0	ADAMTS16	5292847	1.000000	0.71417	0.030000	0.17652	0.870000	0.49936	8.985000	0.93487	2.615000	0.88500	0.655000	0.94253	GAA		0.483	ADAMTS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365657.1	NM_139056		5	104	0	0	0	1	0	5	104					C	5239847	G	C	5239847	3	2	388	1	0	0	0	0	1	0	0	0	261	1291	45	5	2394	5	ADAMTS16	5	5239847	Missense_Mutation	SNP	G	TCGA-V1-A9OQ-01A-11D-A41K-08		5239847	175675413	22	19052											
BAT4	7918	broad.mit.edu	37	chr6	31630284	31630284	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gattggcacggccctcacccCggggtcccagccccattcct	5	7	10	19	2	1	0	1	0	0	0	3	1	3	0	7	4	1	1	7	4	0	2			TCGA-V1-A9OQ-01A-11D-A41K-08	TCGA-V1-A9OQ-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b85059c-7e9e-4d42-a942-12cd919eea93	286b7dd0-24eb-48eb-b0f0-f9171d52b85a	g.chr6:31630284C>T	ENST00000375906.1	-	4	1514	c.830G>A	c.(829-831)cGg>cAg	p.R277Q	GPANK1_ENST00000375895.2_Missense_Mutation_p.R277Q|C6orf47-AS1_ENST00000422049.1_RNA|GPANK1_ENST00000375900.4_Missense_Mutation_p.R277Q|GPANK1_ENST00000375893.2_Missense_Mutation_p.R277Q|C6orf47_ENST00000375911.1_5'Flank|Y_RNA_ENST00000364337.1_RNA|GPANK1_ENST00000375896.4_Missense_Mutation_p.R277Q|CSNK2B_ENST00000375885.4_5'Flank	NM_001199237.1	NP_001186166.1	O95872	GPAN1_HUMAN	G patch domain and ankyrin repeats 1	277	G-patch. {ECO:0000255|PROSITE- ProRule:PRU00092}.						nucleic acid binding (GO:0003676)			central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(7)	12						GCCCTCACCCCGGGGTCCCAG	0.647																																						ENST00000375906.1																			0				central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(7)	12						c.(829-831)cGg>cAg		G patch domain and ankyrin repeats 1							49	53	52					6																	31630284		1510	2709	4219	SO:0001583	missense	7918					intracellular	nucleic acid binding	g.chr6:31630284C>T		CCDS4711.1	6p21.3	2013-01-28	2010-11-24	2010-11-24	ENSG00000204438	ENSG00000204438		"Ankyrin repeat domain containing", "G patch domain containing"	13920	protein-coding gene	gene with protein product	"G patch domain containing 10", "ankyrin repeat domain 59"	142610	"HLA-B associated transcript 4"	BAT4		2911734, 2813433	Standard	NM_001199237		Approved	G5, D6S54E, GPATCH10, ANKRD59	uc021yuu.1	O95872	OTTHUMG00000031174	ENST00000375906.1:c.830G>A	6.37:g.31630284C>T	ENSP00000365071:p.Arg277Gln					GPANK1_ENST00000375900.4_Missense_Mutation_p.R277Q|GPANK1_ENST00000375896.4_Missense_Mutation_p.R277Q|GPANK1_ENST00000375895.2_Missense_Mutation_p.R277Q|GPANK1_ENST00000375893.2_Missense_Mutation_p.R277Q	p.R277Q	NM_001199237.1	NP_001186166.1	O95872	GPAN1_HUMAN			4	1514	-			277			G-patch.		A6NG25|B0UXA2|Q5SQ49	Missense_Mutation	SNP	ENST00000375906.1	37	c.830G>A	CCDS4711.1	.	.	.	.	.	.	.	.	.	.	C	15.58	2.877030	0.51801	.	.	ENSG00000204438	ENST00000375906;ENST00000375896;ENST00000375893;ENST00000375895;ENST00000375900	T;T;T;T;T	0.28895	1.59;1.59;1.59;1.59;1.59	5.0	5.0	0.66597	D111/G-patch (3);	0.340710	0.27206	N	0.020422	T	0.08223	0.0205	N	0.16037	0.36	0.34864	D	0.742897	P	0.48162	0.906	B	0.42771	0.397	T	0.06499	-1.0823	10	0.15499	T	0.54	-6.9137	9.2453	0.37523	0.0:0.9045:0.0:0.0955	.	277	O95872	GPAN1_HUMAN	Q	277	ENSP00000365071:R277Q;ENSP00000365060:R277Q;ENSP00000365057:R277Q;ENSP00000365059:R277Q;ENSP00000365065:R277Q	ENSP00000365057:R277Q	R	-	2	0	GPANK1	31738263	0.997000	0.39634	0.986000	0.45419	0.986000	0.74619	2.663000	0.46774	2.595000	0.87683	0.655000	0.94253	CGG		0.647	GPANK1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000144445.2	NM_033177		11	17	0	0	0	1	0	11	17					T	31630284	C	T	31630284	3	4	388	1	0	0	0	0	1	0	0	0	1323	652	23	2	244	2	BAT4	6	31630284	Missense_Mutation	SNP	C	TCGA-V1-A9OQ-01A-11D-A41K-08		31630284	139484783	23	19053											
RPL10A	4736	broad.mit.edu	37	chr6	35437188	35437188	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actccccgccctaagttctcTgtgtgtgtcctgggggacca	5	11	11	14	1	1	0	0	0	1	0	4	1	3	1	5	2	0	1	5	2	1	2			TCGA-V1-A9OQ-01A-11D-A41K-08	TCGA-V1-A9OQ-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b85059c-7e9e-4d42-a942-12cd919eea93	286b7dd0-24eb-48eb-b0f0-f9171d52b85a	g.chr6:35437188T>A	ENST00000322203.6	+	4	219	c.192T>A	c.(190-192)tcT>tcA	p.S64S	RPL10A_ENST00000467020.1_3'UTR	NM_007104.4	NP_009035.3	P62906	RL10A_HUMAN	ribosomal protein L10a	64					anatomical structure morphogenesis (GO:0009653)|cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			breast(1)|large_intestine(2)|ovary(1)	4						CTAAGTTCTCTGTGTGTGTCC	0.572																																						ENST00000322203.6																			0				breast(1)|large_intestine(2)|ovary(1)	4						c.(190-192)tcT>tcA		ribosomal protein L10a							49	48	48					6																	35437188		2203	4300	6503	SO:0001819	synonymous_variant	4736				anatomical structure morphogenesis|endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosol|large ribosomal subunit	RNA binding|structural constituent of ribosome	g.chr6:35437188T>A	U12404	CCDS4806.1	6p21.31	2011-04-06			ENSG00000198755	ENSG00000198755		"L ribosomal proteins"	10299	protein-coding gene	gene with protein product		615660		NEDD6		7609734, 9647638	Standard	NM_007104		Approved	Csa-19, L10A	uc003okp.1	P62906	OTTHUMG00000014566	ENST00000322203.6:c.192T>A	6.37:g.35437188T>A						RPL10A_ENST00000467020.1_3'UTR	p.S64S	NM_007104.4	NP_009035.3	P62906	RL10A_HUMAN			4	219	+			64					B2R801|P52859|P53025|Q5TZT6|Q8J013	Silent	SNP	ENST00000322203.6	37	c.192T>A	CCDS4806.1																																																																																				0.572	RPL10A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040283.1	NM_007104		12	27	0	0	0	1	0	12	27					A	35437188	T	A	35437188	2	1	388	1	0	0	0	0	0	0	0	1	13555	1567	55	5		5	RPL10A	6	35437188	Silent	SNP	T	TCGA-V1-A9OQ-01A-11D-A41K-08	3806904	35437188	135677879	24	19054											
TPD52L1	7164	broad.mit.edu	37	chr6	125584048	125584048	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcagctccacggcccatgcCagtgcccagagcttggcagg	7	6	12	16	1	1	1	1	0	0	1	2	1	2	1	4	3	4	3	4	3	0	1			TCGA-V1-A9OQ-01A-11D-A41K-08	TCGA-V1-A9OQ-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b85059c-7e9e-4d42-a942-12cd919eea93	286b7dd0-24eb-48eb-b0f0-f9171d52b85a	g.chr6:125584048C>G	ENST00000534000.1	+	7	851	c.555C>G	c.(553-555)gcC>gcG	p.A185A	TPD52L1_ENST00000368402.5_3'UTR|TPD52L1_ENST00000524679.1_3'UTR|TPD52L1_ENST00000368388.2_3'UTR|TPD52L1_ENST00000530868.1_3'UTR|TPD52L1_ENST00000527711.1_Silent_p.A172A|TPD52L1_ENST00000532429.1_Silent_p.A156A|TPD52L1_ENST00000534199.1_3'UTR|TPD52L1_ENST00000304877.13_Silent_p.A190A|TPD52L1_ENST00000392482.2_3'UTR|HDDC2_ENST00000608456.1_Intron|TPD52L1_ENST00000528193.1_3'UTR	NM_003287.2	NP_003278.1	Q16890	TPD53_HUMAN	tumor protein D52-like 1	185					G2/M transition of mitotic cell cycle (GO:0000086)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of JNK cascade (GO:0046330)|positive regulation of MAP kinase activity (GO:0043406)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)	cytoplasm (GO:0005737)|perinuclear region of cytoplasm (GO:0048471)	identical protein binding (GO:0042802)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			endometrium(2)|large_intestine(2)|prostate(1)	5			LUSC - Lung squamous cell carcinoma(4;0.0263)|Lung(4;0.0828)	GBM - Glioblastoma multiforme(226;0.0265)		CGGCCCATGCCAGTGCCCAGA	0.577																																						ENST00000534000.1																			0				endometrium(2)|large_intestine(2)|prostate(1)	5						c.(553-555)gcC>gcG		tumor protein D52-like 1							52	48	49					6																	125584048		2203	4300	6503	SO:0001819	synonymous_variant	0				DNA fragmentation involved in apoptotic nuclear change|G2/M transition of mitotic cell cycle|induction of apoptosis|positive regulation of JNK cascade|positive regulation of MAP kinase activity	perinuclear region of cytoplasm	caspase activator activity|protein heterodimerization activity|protein homodimerization activity	g.chr6:125584048C>G	U44427	CCDS5130.1, CCDS34527.1, CCDS34528.1, CCDS43502.1, CCDS75513.1, CCDS75514.1	6q22-q23	2008-07-29			ENSG00000111907	ENSG00000111907			12006	protein-coding gene	gene with protein product		604069				8812487, 16112108	Standard	NM_003287		Approved	D53, hD53	uc003pzu.1	Q16890	OTTHUMG00000015505	ENST00000534000.1:c.555C>G	6.37:g.125584048C>G						TPD52L1_ENST00000530868.1_3'UTR|TPD52L1_ENST00000368402.5_3'UTR|TPD52L1_ENST00000527711.1_Silent_p.A172A|TPD52L1_ENST00000532429.1_Silent_p.A156A|TPD52L1_ENST00000534199.1_3'UTR|TPD52L1_ENST00000368388.2_3'UTR|TPD52L1_ENST00000392482.2_3'UTR|TPD52L1_ENST00000528193.1_3'UTR|TPD52L1_ENST00000524679.1_3'UTR|TPD52L1_ENST00000304877.13_Silent_p.A190A	p.A185A	NM_003287.2	NP_003278.1	Q16890	TPD53_HUMAN	LUSC - Lung squamous cell carcinoma(4;0.0263)|Lung(4;0.0828)	GBM - Glioblastoma multiforme(226;0.0265)	7	851	+			185					A8K757|A8K772|A8MUD2|A8MUJ7|A8MW70|F6V707|O43397|Q5TC99|Q5TDQ0|Q9BUQ6|Q9C054	Silent	SNP	ENST00000534000.1	37	c.555C>G	CCDS5130.1																																																																																				0.577	TPD52L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042065.2			12	28	0	0	0	1	0	12	28					G	125584048	C	G	125584048	2	3	388	1	0	0	0	0	0	0	0	1	16395	581	21	5		5	TPD52L1	6	125584048	Silent	SNP	C	TCGA-V1-A9OQ-01A-11D-A41K-08	90146860	125584048	45531019	25	19055											
PTPRK	5796	broad.mit.edu	37	chr6	128306873	128306873	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaccaccacttacctgcaatGtacaacgatggggccagcac	12	6	9	14	1	0	0	0	0	0	0	0	2	0	0	4	2	5	3	4	2	4	2			TCGA-V1-A9OQ-01A-11D-A41K-08	TCGA-V1-A9OQ-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b85059c-7e9e-4d42-a942-12cd919eea93	286b7dd0-24eb-48eb-b0f0-f9171d52b85a	g.chr6:128306873G>C	ENST00000368215.3	-	22	3240	c.3241C>G	c.(3241-3243)Cat>Gat	p.H1081D	PTPRK_ENST00000368207.3_Missense_Mutation_p.H1114D|PTPRK_ENST00000532331.1_Missense_Mutation_p.H1104D|PTPRK_ENST00000368210.3_Missense_Mutation_p.H1100D|PTPRK_ENST00000368226.4_Missense_Mutation_p.H1082D|PTPRK_ENST00000368213.5_Missense_Mutation_p.H1088D|PTPRK_ENST00000368227.3_Missense_Mutation_p.H1099D			Q15262	PTPRK_HUMAN	protein tyrosine phosphatase, receptor type, K	1081	Tyrosine-protein phosphatase 1. {ECO:0000255|PROSITE-ProRule:PRU00160}.				cell adhesion (GO:0007155)|cell migration (GO:0016477)|cellular response to reactive oxygen species (GO:0034614)|cellular response to UV (GO:0034644)|focal adhesion assembly (GO:0048041)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of keratinocyte proliferation (GO:0010839)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|protein localization to cell surface (GO:0034394)|signal transduction (GO:0007165)|transforming growth factor beta receptor signaling pathway (GO:0007179)	axon (GO:0030424)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|leading edge membrane (GO:0031256)|neuronal cell body (GO:0043025)|photoreceptor outer segment (GO:0001750)	beta-catenin binding (GO:0008013)|gamma-catenin binding (GO:0045295)|protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)		PTPRK/RSPO3(10)	autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	72				all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)		TACCTGCAATGTACAACGATG	0.473																																						ENST00000368227.3																		PTPRK/RSPO3(10)	0				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	72						c.(3295-3297)Cat>Gat		protein tyrosine phosphatase, receptor type, K							143	131	135					6																	128306873		2203	4300	6503	SO:0001583	missense	5796				cell migration|cellular response to reactive oxygen species|cellular response to UV|focal adhesion assembly|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of keratinocyte proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transforming growth factor beta receptor signaling pathway	adherens junction|cell surface|cell-cell junction|integral to plasma membrane|leading edge membrane	beta-catenin binding|gamma-catenin binding|protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr6:128306873G>C	L77886	CCDS5137.1, CCDS47473.1, CCDS75517.1	6q22.2-q22.3	2013-02-11			ENSG00000152894	ENSG00000152894		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	9674	protein-coding gene	gene with protein product		602545				9047348, 8663237	Standard	NM_002844		Approved	R-PTP-kappa	uc010kfc.3	Q15262	OTTHUMG00000015536	ENST00000368215.3:c.3241C>G	6.37:g.128306873G>C	ENSP00000357198:p.His1081Asp					PTPRK_ENST00000368215.3_Missense_Mutation_p.H1081D|PTPRK_ENST00000368207.3_Missense_Mutation_p.H1114D|PTPRK_ENST00000368210.3_Missense_Mutation_p.H1100D|PTPRK_ENST00000368226.4_Missense_Mutation_p.H1082D|PTPRK_ENST00000368213.5_Missense_Mutation_p.H1088D|PTPRK_ENST00000532331.1_Missense_Mutation_p.H1104D	p.H1099D			Q15262	PTPRK_HUMAN		all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)	23	3661	-			1081			Tyrosine-protein phosphatase 1.		B2RTQ8|B7ZMG0|Q14763|Q5TG10|Q5TG11	Missense_Mutation	SNP	ENST00000368215.3	37	c.3295C>G		.	.	.	.	.	.	.	.	.	.	G	25.2	4.610569	0.87258	.	.	ENSG00000152894	ENST00000368226;ENST00000368227;ENST00000532331;ENST00000368213;ENST00000368210;ENST00000368215;ENST00000368207	T;T;T;T;T;T;T	0.60040	0.22;0.22;0.22;0.22;0.22;0.22;0.22	5.82	5.82	0.92795	Protein-tyrosine phosphatase, receptor/non-receptor type (4);Protein-tyrosine/Dual-specificity phosphatase (1);	0.000000	0.85682	D	0.000000	D	0.88171	0.6365	H	0.99894	4.905	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;0.996;0.995	D;D;D;D	0.97110	1.0;1.0;0.996;0.994	D	0.93401	0.6760	10	0.87932	D	0	.	20.0864	0.97801	0.0:0.0:1.0:0.0	.	1104;1088;1081;1082	B7ZMG0;Q15262-3;Q15262;Q15262-2	.;.;PTPRK_HUMAN;.	D	1082;1099;1104;1088;1100;1081;1114	ENSP00000357209:H1082D;ENSP00000357210:H1099D;ENSP00000432973:H1104D;ENSP00000357196:H1088D;ENSP00000357193:H1100D;ENSP00000357198:H1081D;ENSP00000357190:H1114D	ENSP00000357190:H1114D	H	-	1	0	PTPRK	128348566	1.000000	0.71417	0.998000	0.56505	0.962000	0.63368	9.837000	0.99465	2.753000	0.94483	0.650000	0.86243	CAT		0.473	PTPRK-005	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000042163.1			10	20	0	0	0	1	0	10	20					C	128306873	G	C	128306873	3	2	388	1	0	0	0	0	1	0	0	0	12805	1377	48	5	1114	5	PTPRK	6	128306873	Missense_Mutation	SNP	G	TCGA-V1-A9OQ-01A-11D-A41K-08	2722825	128306873	42808194	26	19056											
IL22RA2	116379	broad.mit.edu	37	chr6	137476210	137476210	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaggtcacaagagagttcttGagtaccccaacagtcttctt	12	11	8	10	0	4	2	1	1	3	1	4	3	4	2	2	1	2	2	2	1	4	5			TCGA-V1-A9OQ-01A-11D-A41K-08	TCGA-V1-A9OQ-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b85059c-7e9e-4d42-a942-12cd919eea93	286b7dd0-24eb-48eb-b0f0-f9171d52b85a	g.chr6:137476210G>T	ENST00000296980.2	-	5	640	c.340C>A	c.(340-342)Caa>Aaa	p.Q114K	IL22RA2_ENST00000349184.4_Missense_Mutation_p.Q82K|IL22RA2_ENST00000339602.3_Missense_Mutation_p.Q82K	NM_052962.2	NP_443194.1	Q969J5	I22R2_HUMAN	interleukin 22 receptor, alpha 2	114	Fibronectin type-III 2.				cytokine-mediated signaling pathway (GO:0019221)|negative regulation of inflammatory response (GO:0050728)|regulation of tyrosine phosphorylation of Stat3 protein (GO:0042516)	cytosol (GO:0005829)|extracellular space (GO:0005615)	interleukin-22 binding (GO:0042017)|interleukin-22 receptor activity (GO:0042018)			endometrium(1)|large_intestine(1)|lung(3)	5	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000313)|OV - Ovarian serous cystadenocarcinoma(155;0.00407)		GAGAGTTCTTGAGTACCCCAA	0.473																																						ENST00000296980.2																			0				endometrium(1)|large_intestine(1)|lung(3)	5						c.(340-342)Caa>Aaa		interleukin 22 receptor, alpha 2							168	164	165					6																	137476210		2203	4300	6503	SO:0001583	missense	0				regulation of tyrosine phosphorylation of Stat3 protein	extracellular space	interleukin-22 receptor activity	g.chr6:137476210G>T	AY044429	CCDS5182.1, CCDS5183.1, CCDS5184.1	6q24.1-q24.2	2008-02-05			ENSG00000164485	ENSG00000164485		"Interleukins and interleukin receptors"	14901	protein-coding gene	gene with protein product		606648				11481447, 11390454	Standard	NM_181309		Approved	CRF2-S1, IL-22BP	uc003qhl.3	Q969J5	OTTHUMG00000015655	ENST00000296980.2:c.340C>A	6.37:g.137476210G>T	ENSP00000296980:p.Gln114Lys					IL22RA2_ENST00000349184.4_Missense_Mutation_p.Q82K|IL22RA2_ENST00000339602.3_Missense_Mutation_p.Q82K	p.Q114K	NM_052962.2	NP_443194.1	Q969J5	I22R2_HUMAN		GBM - Glioblastoma multiforme(68;0.000313)|OV - Ovarian serous cystadenocarcinoma(155;0.00407)	5	640	-	Colorectal(23;0.24)		114			Fibronectin type-III 2.		Q08AH7|Q6UWM1|Q96A41|Q96QR0	Missense_Mutation	SNP	ENST00000296980.2	37	c.340C>A	CCDS5182.1	.	.	.	.	.	.	.	.	.	.	G	4.952	0.176887	0.09443	.	.	ENSG00000164485	ENST00000349184;ENST00000296980;ENST00000339602	T;T;T	0.73469	-0.75;-0.75;-0.75	5.77	3.92	0.45320	Fibronectin, type III (1);Immunoglobulin-like fold (1);	0.955450	0.08816	N	0.889549	T	0.44871	0.1314	L	0.35341	1.055	0.09310	N	1	B;B;B	0.31351	0.149;0.169;0.32	B;B;B	0.34991	0.031;0.079;0.193	T	0.36890	-0.9729	10	0.21014	T	0.42	.	7.6124	0.28137	0.0874:0.0:0.7402:0.1724	.	82;82;114	Q969J5-3;Q969J5-2;Q969J5	.;.;I22R2_HUMAN	K	82;114;82	ENSP00000296979:Q82K;ENSP00000296980:Q114K;ENSP00000340920:Q82K	ENSP00000296980:Q114K	Q	-	1	0	IL22RA2	137517903	0.980000	0.34600	0.006000	0.13384	0.725000	0.41563	1.857000	0.39399	1.515000	0.48885	0.655000	0.94253	CAA		0.473	IL22RA2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000042399.1			32	86	1	0	2.47316e-13	1	2.84646e-13	32	86					T	137476210	G	T	137476210	3	4	388	1	0	0	0	0	1	0	0	0	7674	1299	45	5	463	5	IL22RA2	6	137476210	Missense_Mutation	SNP	G	TCGA-V1-A9OQ-01A-11D-A41K-08	9169337	137476210	33638857	27	19057											
SYNE1	23345	broad.mit.edu	37	chr6	152461140	152461140	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtcagtgctgagttccagaCgctggagctgttccaactcc	7	11	11	12	1	1	2	1	1	0	1	4	3	4	3	3	1	3	5	3	1	1	2	rs143049227		TCGA-V1-A9OQ-01A-11D-A41K-08	TCGA-V1-A9OQ-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b85059c-7e9e-4d42-a942-12cd919eea93	286b7dd0-24eb-48eb-b0f0-f9171d52b85a	g.chr6:152461140C>T	ENST00000367255.5	-	140	26004	c.25403G>A	c.(25402-25404)cGt>cAt	p.R8468H	SYNE1_ENST00000341594.5_Missense_Mutation_p.R8080H|SYNE1_ENST00000265368.4_Missense_Mutation_p.R8468H|SYNE1_ENST00000356820.4_Missense_Mutation_p.R2992H|SYNE1_ENST00000539504.1_Missense_Mutation_p.R623H|SYNE1_ENST00000448038.1_Missense_Mutation_p.R8420H|SYNE1_ENST00000347037.5_5'UTR|SYNE1_ENST00000354674.4_Missense_Mutation_p.R646H|SYNE1_ENST00000423061.1_Missense_Mutation_p.R8420H	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	8468			R -> H (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)	p.R8468H(5)		NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		GAGTTCCAGACGCTGGAGCTG	0.557										HNSCC(10;0.0054)																												ENST00000367255.5																			5	Substitution - Missense(5)	p.R8468H(5)	NS(2)|central_nervous_system(2)|large_intestine(1)	NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524						c.(25402-25404)cGt>cAt		spectrin repeat containing, nuclear envelope 1		C	HIS/ARG,HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	119	97	104		25259,25403	1.6	0	6	dbSNP_134	104	1,8599	1.2+/-3.3	0,1,4299	yes	missense,missense	SYNE1	NM_033071.3,NM_182961.3	29,29	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	benign,benign	8420/8750,8468/8798	152461140	2,13004	2203	4300	6503	SO:0001583	missense	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152461140C>T	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"myocyte nuclear envelope protein 1", "nuclear envelope spectrin repeat-1"	608441	"chromosome 6 open reading frame 98"	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.25403G>A	6.37:g.152461140C>T	ENSP00000356224:p.Arg8468His	HNSCC(10;0.0054)				SYNE1_ENST00000423061.1_Missense_Mutation_p.R8420H|SYNE1_ENST00000347037.5_5'UTR|SYNE1_ENST00000265368.4_Missense_Mutation_p.R8468H|SYNE1_ENST00000354674.4_Missense_Mutation_p.R646H|SYNE1_ENST00000448038.1_Missense_Mutation_p.R8420H|SYNE1_ENST00000341594.5_Missense_Mutation_p.R8080H|SYNE1_ENST00000539504.1_Missense_Mutation_p.R623H|SYNE1_ENST00000356820.4_Missense_Mutation_p.R2992H	p.R8468H	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	140	26004	-		Ovarian(120;0.0955)	8468		R -> H (in a colorectal cancer sample; somatic mutation).			E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	c.25403G>A	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	C	6.556	0.470783	0.12461	2.27E-4	1.16E-4	ENSG00000131018	ENST00000367255;ENST00000539504;ENST00000367257;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000356820;ENST00000313630;ENST00000367247;ENST00000367251;ENST00000354674	T;T;T;T;T;T;T;T;T;T	0.50548	0.74;0.74;0.74;0.74;0.74;0.74;0.74;0.74;0.74;0.74	5.92	1.61	0.23674	.	0.227351	0.31156	N	0.008147	T	0.14442	0.0349	L	0.36672	1.1	0.09310	N	1	B;B;B;B;B	0.15930	0.015;0.015;0.012;0.015;0.008	B;B;B;B;B	0.17433	0.018;0.018;0.011;0.018;0.013	T	0.32481	-0.9905	10	0.21540	T	0.41	.	9.0212	0.36202	0.0:0.6038:0.0:0.3962	.	8468;8468;8420;8420;670	Q8NF91;E7EQI5;Q8NF91-4;E9PEL9;B7Z9Y6	SYNE1_HUMAN;.;.;.;.	H	8468;623;1114;8420;8468;8420;8080;2992;653;648;1413;646	ENSP00000356224:R8468H;ENSP00000441052:R623H;ENSP00000356226:R1114H;ENSP00000396024:R8420H;ENSP00000265368:R8468H;ENSP00000390975:R8420H;ENSP00000341887:R8080H;ENSP00000349276:R2992H;ENSP00000356220:R1413H;ENSP00000346701:R646H	ENSP00000265368:R8468H	R	-	2	0	SYNE1	152502833	0.000000	0.05858	0.037000	0.18230	0.206000	0.24218	-0.096000	0.11059	0.000000	0.14550	-0.254000	0.11334	CGT		0.557	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		11	54	0	0	0	1	0	11	54					T	152461140	C	T	152461140	3	4	388	1	0	0	0	0	1	0	0	0	15442	536	19	1	1018	1	SYNE1	6	152461140	Missense_Mutation	SNP	C	TCGA-V1-A9OQ-01A-11D-A41K-08	14984930	152461140	18653927	28	19058											
C6orf70	55780	broad.mit.edu	37	chr6	170156863	170156863	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cctttcttttaagagatctgCtttcatctgaggagcttgct	7	17	8	9	0	4	2	1	1	3	1	4	4	4	3	1	1	3	3	1	1	1	5			TCGA-V1-A9OQ-01A-11D-A41K-08	TCGA-V1-A9OQ-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b85059c-7e9e-4d42-a942-12cd919eea93	286b7dd0-24eb-48eb-b0f0-f9171d52b85a	g.chr6:170156863C>G	ENST00000366773.3	+	5	499	c.466C>G	c.(466-468)Ctt>Gtt	p.L156V	ERMARD_ENST00000366772.2_Missense_Mutation_p.L156V|ERMARD_ENST00000418781.3_Missense_Mutation_p.L156V|ERMARD_ENST00000588451.1_Missense_Mutation_p.L30V|ERMARD_ENST00000392095.4_Missense_Mutation_p.L30V	NM_001278532.1|NM_018341.1	NP_001265461.1|NP_060811.1	Q5T6L9	EMARD_HUMAN	ER membrane-associated RNA degradation	156					multicellular organismal development (GO:0007275)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)											AAGAGATCTGCTTTCATCTGA	0.358																																						ENST00000588451.1																			0				breast(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(7)|ovary(1)	20						c.(88-90)Ctt>Gtt									190	187	188					6																	170156863		2203	4300	6503	SO:0001583	missense	0					integral to membrane		g.chr6:170156863C>G	AK002014	CCDS34576.1, CCDS64572.1, CCDS64573.1, CCDS64574.1	6q27	2013-08-28	2013-08-28	2013-08-28	ENSG00000130023	ENSG00000130023			21056	protein-coding gene	gene with protein product		615532	"chromosome 6 open reading frame 70"	C6orf70		23768067	Standard	NM_018341		Approved	FLJ11152, dJ266L20.3	uc003qxg.1	Q5T6L9	OTTHUMG00000016067	ENST00000366773.3:c.466C>G	6.37:g.170156863C>G	ENSP00000355735:p.Leu156Val					C6orf70_ENST00000392095.4_Missense_Mutation_p.L30V|C6orf70_ENST00000418781.3_Missense_Mutation_p.L156V|C6orf70_ENST00000366772.2_Missense_Mutation_p.L156V|C6orf70_ENST00000366773.3_Missense_Mutation_p.L156V	p.L30V			Q5T6L9	CF070_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;1.2e-22)|BRCA - Breast invasive adenocarcinoma(81;1.49e-07)|GBM - Glioblastoma multiforme(31;0.00191)	5	601	+		Breast(66;5.08e-05)|Ovarian(120;0.208)	156					B4DFH0|F8WAF1|Q3ZCS8|Q5T6L8|Q9NUT5|Q9NVU2	Missense_Mutation	SNP	ENST00000366773.3	37	c.88C>G	CCDS34576.1	.	.	.	.	.	.	.	.	.	.	C	11.46	1.645947	0.29246	.	.	ENSG00000130023	ENST00000366773;ENST00000366772;ENST00000418781;ENST00000392095	T;T	0.74421	-0.84;-0.74	5.75	2.99	0.34606	.	0.000000	0.56097	D	0.000040	T	0.78898	0.4356	M	0.83483	2.645	0.19945	N	0.999943	P;P;D	0.89917	0.944;0.854;1.0	B;B;D	0.87578	0.441;0.441;0.998	T	0.72404	-0.4304	10	0.87932	D	0	.	9.0749	0.36515	0.2629:0.6673:0.0:0.0697	.	156;156;156	Q5T6L9-3;Q5T6L9-2;Q5T6L9	.;.;CF070_HUMAN	V	156;156;156;30	ENSP00000355735:L156V;ENSP00000375945:L30V	ENSP00000355734:L156V	L	+	1	0	C6orf70	169898788	1.000000	0.71417	0.005000	0.12908	0.039000	0.13416	3.244000	0.51399	0.342000	0.23796	0.563000	0.77884	CTT		0.358	ERMARD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043238.2	NM_018341		4	109	0	0	0	1	0	4	109					G	170156863	C	G	170156863	3	3	388	1	0	0	0	0	1	0	0	0	2370	797	28	5	484	5	C6orf70	6	170156863	Missense_Mutation	SNP	C	TCGA-V1-A9OQ-01A-11D-A41K-08	17695723	170156863	958204	29	19059											
MIOS	54468	broad.mit.edu	37	chr7	7635987	7635987	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcagtatggtgtgagtggcTcaccaacgaaatctaaagtc	12	10	11	8	1	3	1	2	1	1	0	4	2	3	1	1	2	1	2	1	2	5	2			TCGA-V1-A9OQ-01A-11D-A41K-08	TCGA-V1-A9OQ-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b85059c-7e9e-4d42-a942-12cd919eea93	286b7dd0-24eb-48eb-b0f0-f9171d52b85a	g.chr7:7635987T>A	ENST00000340080.4	+	11	2717	c.2296T>A	c.(2296-2298)Tca>Aca	p.S766T	MIOS_ENST00000405785.1_Missense_Mutation_p.S766T	NM_019005.3	NP_061878.3	Q9NXC5	MIO_HUMAN	missing oocyte, meiosis regulator, homolog (Drosophila)	766						lysosomal membrane (GO:0005765)				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(15)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						TGTGAGTGGCTCACCAACGAA	0.463																																						ENST00000340080.4																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(15)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(2296-2298)Tca>Aca		missing oocyte, meiosis regulator, homolog (Drosophila)							190	181	184					7																	7635987		1974	4156	6130	SO:0001583	missense	54468							g.chr7:7635987T>A		CCDS43554.1	7p21.3	2011-09-12			ENSG00000164654	ENSG00000164654			21905	protein-coding gene	gene with protein product	"WD repeat-containing protein mio"	615359				14973288	Standard	NM_019005		Approved	FLJ20323	uc003srf.3	Q9NXC5	OTTHUMG00000152440	ENST00000340080.4:c.2296T>A	7.37:g.7635987T>A	ENSP00000339881:p.Ser766Thr					MIOS_ENST00000405785.1_Missense_Mutation_p.S766T	p.S766T	NM_019005.3	NP_061878.3	Q9NXC5	MIO_HUMAN			11	2717	+			766					B2RTV6|O75216|Q7L551|Q9H092	Missense_Mutation	SNP	ENST00000340080.4	37	c.2296T>A	CCDS43554.1	.	.	.	.	.	.	.	.	.	.	T	9.703	1.154980	0.21371	.	.	ENSG00000164654	ENST00000340080;ENST00000405785	T;T	0.50548	0.74;0.74	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	T	0.31796	0.0808	N	0.13168	0.305	0.80722	D	1	B;B	0.19583	0.037;0.037	B;B	0.22386	0.039;0.039	T	0.13683	-1.0500	10	0.12766	T	0.61	-17.3887	16.085	0.81038	0.0:0.0:0.0:1.0	.	766;766	B4DGE7;Q9NXC5	.;MIO_HUMAN	T	766	ENSP00000339881:S766T;ENSP00000384088:S766T	ENSP00000339881:S766T	S	+	1	0	MIOS	7602512	1.000000	0.71417	1.000000	0.80357	0.750000	0.42670	7.671000	0.83941	2.267000	0.75376	0.383000	0.25322	TCA		0.463	MIOS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326218.1	NM_019005		22	60	0	0	0	1	0	22	60					A	7635987	T	A	7635987	3	1	388	1	0	0	0	0	1	0	0	0	9589	1551	54	5	2326	5	MIOS	7	7635987	Missense_Mutation	SNP	T	TCGA-V1-A9OQ-01A-11D-A41K-08		7635987	151502676	30	19060											
GRM3	2913	broad.mit.edu	37	chr7	86415592	86415592	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cctaggtggcaaacctgctgCggctcttccagatccctcag	7	9	10	15	1	2	1	1	0	1	1	4	1	4	1	4	3	3	3	4	3	2	2			TCGA-V1-A9OQ-01A-11D-A41K-08	TCGA-V1-A9OQ-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b85059c-7e9e-4d42-a942-12cd919eea93	286b7dd0-24eb-48eb-b0f0-f9171d52b85a	g.chr7:86415592C>T	ENST00000361669.2	+	3	1583	c.484C>T	c.(484-486)Cgg>Tgg	p.R162W	AC005009.2_ENST00000452471.1_RNA|GRM3_ENST00000546348.1_Intron|GRM3_ENST00000439827.1_Missense_Mutation_p.R162W|GRM3_ENST00000394720.2_Missense_Mutation_p.R160W|GRM3_ENST00000536043.1_Missense_Mutation_p.R34W|AC005009.2_ENST00000418031.1_RNA	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3	162					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|negative regulation of adenylate cyclase activity (GO:0007194)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)	astrocyte projection (GO:0097449)|axon (GO:0030424)|dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	calcium channel regulator activity (GO:0005246)|G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group II metabotropic glutamate receptor activity (GO:0001641)			NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)					AAACCTGCTGCGGCTCTTCCA	0.517																																					GBM(52;969 1098 3139 52280)	ENST00000361669.2																			0				NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109						c.(484-486)Cgg>Tgg		glutamate receptor, metabotropic 3	Acamprosate(DB00659)|Nicotine(DB00184)						150	162	158					7																	86415592		2203	4300	6503	SO:0001583	missense	0				synaptic transmission	integral to plasma membrane		g.chr7:86415592C>T		CCDS5600.1	7q21.1-q21.2	2012-08-29			ENSG00000198822	ENSG00000198822		"GPCR / Class C : Glutamate receptors, metabotropic", "Glutamate receptors"	4595	protein-coding gene	gene with protein product		601115				8824806	Standard	NM_000840		Approved	GPRC1C, mGlu3, MGLUR3	uc003uid.3	Q14832	OTTHUMG00000022884	ENST00000361669.2:c.484C>T	7.37:g.86415592C>T	ENSP00000355316:p.Arg162Trp					GRM3_ENST00000394720.2_Missense_Mutation_p.R160W|GRM3_ENST00000439827.1_Missense_Mutation_p.R162W|AC005009.2_ENST00000452471.1_RNA|AC005009.2_ENST00000418031.1_RNA|GRM3_ENST00000546348.1_Intron|GRM3_ENST00000536043.1_Missense_Mutation_p.R34W	p.R162W	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN			3	1583	+	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)		162					Q2PNZ6|Q75MV4|Q75N17|Q86YG6|Q8TBH9	Missense_Mutation	SNP	ENST00000361669.2	37	c.484C>T	CCDS5600.1	.	.	.	.	.	.	.	.	.	.	C	16.30	3.084401	0.55861	.	.	ENSG00000198822	ENST00000361669;ENST00000454217;ENST00000536043;ENST00000439827;ENST00000394720	D;D;D;D;D	0.83506	-1.73;-1.73;-1.73;-1.73;-1.73	5.68	-5.47	0.02600	GPCR, family 3, conserved site (1);Extracellular ligand-binding receptor (1);	0.000000	0.85682	D	0.000000	D	0.91583	0.7341	M	0.92317	3.295	0.54753	D	0.999989	D;D;D	0.76494	0.999;0.997;0.999	D;P;D	0.68353	0.957;0.823;0.933	D	0.92091	0.5680	10	0.87932	D	0	.	20.1228	0.97969	0.7697:0.2303:0.0:0.0	.	34;162;162	F5GYZ2;G5E9K2;Q14832	.;.;GRM3_HUMAN	W	162;34;34;162;160	ENSP00000355316:R162W;ENSP00000405427:R34W;ENSP00000441407:R34W;ENSP00000398767:R162W;ENSP00000378209:R160W	ENSP00000355316:R162W	R	+	1	2	GRM3	86253528	0.000000	0.05858	0.010000	0.14722	0.934000	0.57294	-0.195000	0.09546	-0.695000	0.05105	0.655000	0.94253	CGG		0.517	GRM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253362.2			16	137	0	0	0	1	0	16	137					T	86415592	C	T	86415592	3	4	388	1	0	0	0	0	1	0	0	0	6798	759	27	1	490	1	GRM3	7	86415592	Missense_Mutation	SNP	C	TCGA-V1-A9OQ-01A-11D-A41K-08	78779605	86415592	72723071	31	19061											
LY6K	54742	broad.mit.edu	37	chr8	143781999	143781999	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctaccgcgggtgtggacagaCgccaacctgactgcgagaca	10	5	13	13	4	0	3	0	1	0	2	0	5	0	4	3	2	3	0	3	2	2	1	rs375943074		TCGA-V1-A9OQ-01A-11D-A41K-08	TCGA-V1-A9OQ-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b85059c-7e9e-4d42-a942-12cd919eea93	286b7dd0-24eb-48eb-b0f0-f9171d52b85a	g.chr8:143781999C>T	ENST00000292430.6	+	1	471	c.54C>T	c.(52-54)gaC>gaT	p.D18D	LY6K_ENST00000561179.1_Silent_p.D76D|LY6K_ENST00000519387.1_Silent_p.D18D|LY6K_ENST00000522591.1_Silent_p.D18D|LY6K_ENST00000518841.1_Silent_p.D18D|CTD-2292P10.4_ENST00000520572.1_RNA			Q17RY6	LY6K_HUMAN	lymphocyte antigen 6 complex, locus K	18						anchored component of membrane (GO:0031225)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)	10	all_cancers(97;3.96e-12)|all_epithelial(106;1.19e-08)|Lung NSC(106;0.000413)|all_lung(105;0.00106)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)					TGTGGACAGACGCCAACCTGA	0.721																																						ENST00000522591.1																			0				NS(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)	10						c.(52-54)gaC>gaT		lymphocyte antigen 6 complex, locus K		C	,,	0,4386		0,0,2193	17	19	18		54,54,54	-0.1	0	8		18	1,8581		0,1,4290	no	coding-synonymous,coding-synonymous,coding-synonymous	LY6K	NM_001160354.1,NM_001160355.1,NM_017527.3	,,	0,1,6483	TT,TC,CC		0.0117,0.0,0.0077	,,	18/121,18/106,18/166	143781999	1,12967	2193	4291	6484	SO:0001819	synonymous_variant	54742					anchored to membrane|cytoplasm|extracellular region|nucleolus|plasma membrane		g.chr8:143781999C>T	AK092545	CCDS6385.1, CCDS6385.2, CCDS59114.1	8q24.3	2009-08-06				ENSG00000160886			24225	protein-coding gene	gene with protein product	"cancer/testis antigen 97"	615093				12516096	Standard	NM_017527		Approved	HSJ001348, FLJ35226, CT97	uc011ljv.2	Q17RY6		ENST00000292430.6:c.54C>T	8.37:g.143781999C>T						LY6K_ENST00000292430.6_Silent_p.D18D|LY6K_ENST00000561179.1_Silent_p.D76D|LY6K_ENST00000518841.1_Silent_p.D18D|LY6K_ENST00000519387.1_Silent_p.D18D	p.D18D			Q17RY6	LY6K_HUMAN			1	110	+	all_cancers(97;3.96e-12)|all_epithelial(106;1.19e-08)|Lung NSC(106;0.000413)|all_lung(105;0.00106)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)		18					G3V116|O15227|Q9BVD7	Silent	SNP	ENST00000292430.6	37	c.54C>T	CCDS6385.2	.	.	.	.	.	.	.	.	.	.	C	4.414	0.076500	0.08485	0.0	1.17E-4	ENSG00000160886	ENST00000522591	.	.	.	1.81	-0.12	0.13539	.	.	.	.	.	T	0.23370	0.0565	.	.	.	0.09310	N	0.999992	.	.	.	.	.	.	T	0.25572	-1.0128	4	.	.	.	.	4.0594	0.09831	0.0:0.5845:0.0:0.4155	.	.	.	.	M	37	.	.	T	+	2	0	LY6K	143779001	0.000000	0.05858	0.000000	0.03702	0.015000	0.08874	-1.205000	0.03014	-0.052000	0.13311	0.305000	0.20034	ACG		0.721	LY6K-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379893.2	NM_017527		5	9	0	0	0	1	0	5	9					T	143781999	C	T	143781999	2	4	388	1	0	0	0	0	0	0	0	1	9098	535	19	1		1	LY6K	8	143781999	Silent	SNP	C	TCGA-V1-A9OQ-01A-11D-A41K-08		143781999	2582023	32	19062											
PPP1R16A	84988	broad.mit.edu	37	chr8	145726659	145726659	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cgccagacaggcgcagagctCaggccgccgcccccggaggt	7	2	15	17	5	1	2	1	0	0	2	1	3	1	3	5	4	1	2	5	4	0	0			TCGA-V1-A9OQ-01A-11D-A41K-08	TCGA-V1-A9OQ-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b85059c-7e9e-4d42-a942-12cd919eea93	286b7dd0-24eb-48eb-b0f0-f9171d52b85a	g.chr8:145726659C>T	ENST00000292539.4	+	10	2102	c.1185C>T	c.(1183-1185)ctC>ctT	p.L395L	CTD-2517M22.14_ENST00000532766.1_RNA|CTD-2517M14.5_ENST00000569326.1_RNA|PPP1R16A_ENST00000435887.1_Silent_p.L395L|GPT_ENST00000394955.2_5'Flank|GPT_ENST00000528431.1_5'Flank			Q96I34	PP16A_HUMAN	protein phosphatase 1, regulatory subunit 16A	395						plasma membrane (GO:0005886)				NS(1)|endometrium(1)|kidney(2)|lung(3)|prostate(1)	8	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			GCGCAGAGCTCAGGCCGCCGC	0.736																																						ENST00000292539.4																			0				NS(1)|endometrium(1)|kidney(2)|lung(3)|prostate(1)	8						c.(1183-1185)ctC>ctT		protein phosphatase 1, regulatory subunit 16A							11	14	13					8																	145726659		2159	4251	6410	SO:0001819	synonymous_variant	84988					plasma membrane	protein binding	g.chr8:145726659C>T		CCDS6429.1	8q24.3	2013-01-10	2011-10-04		ENSG00000160972	ENSG00000160972		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "Ankyrin repeat domain containing"	14941	protein-coding gene	gene with protein product		609172	"protein phosphatase 1, regulatory (inhibitor) subunit 16A"			11948623	Standard	NM_032902		Approved	MGC14333, MYPT3	uc003zdf.3	Q96I34	OTTHUMG00000165173	ENST00000292539.4:c.1185C>T	8.37:g.145726659C>T						PPP1R16A_ENST00000435887.1_Silent_p.L395L	p.L395L			Q96I34	PP16A_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)		10	2102	+	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		395					D3DWM5	Silent	SNP	ENST00000292539.4	37	c.1185C>T	CCDS6429.1	.	.	.	.	.	.	.	.	.	.	C	5.441	0.266564	0.10294	.	.	ENSG00000160972	ENST00000528430	.	.	.	4.72	0.681	0.17986	.	.	.	.	.	T	0.42494	0.1205	.	.	.	0.46185	D	0.998917	.	.	.	.	.	.	T	0.19679	-1.0298	4	.	.	.	.	1.9091	0.03283	0.1462:0.3628:0.3119:0.1791	.	.	.	.	L	63	.	.	S	+	2	0	PPP1R16A	145697467	0.318000	0.24598	0.004000	0.12327	0.004000	0.04260	0.762000	0.26503	-0.190000	0.10465	-0.379000	0.06801	TCA		0.736	PPP1R16A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382459.1	NM_032902		4	10	0	0	0	1	0	4	10					T	145726659	C	T	145726659	2	4	388	1	0	0	0	0	0	0	0	1	12365	813	29	3		3	PPP1R16A	8	145726659	Silent	SNP	C	TCGA-V1-A9OQ-01A-11D-A41K-08	1944660	145726659	637363	33	19063											
PTPLAD2	401494	broad.mit.edu	37	chr9	21026653	21026653	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caacatatatgtgcagcagtTccaggagagatacggattgg	13	9	12	7	1	0	1	0	0	0	1	1	4	1	3	1	3	4	3	1	3	4	5			TCGA-V1-A9OQ-01A-11D-A41K-08	TCGA-V1-A9OQ-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b85059c-7e9e-4d42-a942-12cd919eea93	286b7dd0-24eb-48eb-b0f0-f9171d52b85a	g.chr9:21026653T>C	ENST00000495827.2	-	3	257	c.212A>G	c.(211-213)gAa>gGa	p.E71G	PTPLAD2_ENST00000488436.1_5'UTR|PTPLAD2_ENST00000513293.2_Missense_Mutation_p.E71G	NM_001010915.3	NP_001010915.2	Q5VWC8	HACD4_HUMAN	protein tyrosine phosphatase-like A domain containing 2	71					fatty acid biosynthetic process (GO:0006633)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	lyase activity (GO:0016829)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1)	10				Lung(24;6.02e-14)|LUSC - Lung squamous cell carcinoma(38;1.29e-10)		GTGCAGCAGTTCCAGGAGAGA	0.378																																						ENST00000495827.1																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1)	10						c.(211-213)gAa>gGa		protein tyrosine phosphatase-like A domain containing 2							158	161	160					9																	21026653		1907	4128	6035	SO:0001583	missense	401494				fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	lyase activity	g.chr9:21026653T>C		CCDS43791.1	9p21.3	2008-02-05			ENSG00000188921	ENSG00000188921			20920	protein-coding gene	gene with protein product		615941					Standard	NM_001010915		Approved	Em:AL662879.1, OTTHUMG00000021016	uc010mir.1	Q5VWC8	OTTHUMG00000021016	ENST00000495827.2:c.212A>G	9.37:g.21026653T>C	ENSP00000419503:p.Glu71Gly					PTPLAD2_ENST00000488436.1_5'UTR|PTPLAD2_ENST00000513293.2_Missense_Mutation_p.E71G	p.E71G	NM_001010915.3	NP_001010915.2	Q5VWC8	HACD4_HUMAN		Lung(24;6.02e-14)|LUSC - Lung squamous cell carcinoma(38;1.29e-10)	3	257	-			71					Q7Z385	Missense_Mutation	SNP	ENST00000495827.2	37	c.212A>G	CCDS43791.1	.	.	.	.	.	.	.	.	.	.	T	19.83	3.901070	0.72754	.	.	ENSG00000188921	ENST00000513293;ENST00000495827	T;T	0.54675	0.56;0.56	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	T	0.75170	0.3813	M	0.84773	2.715	0.52501	D	0.999954	D	0.89917	1.0	D	0.91635	0.999	T	0.79654	-0.1713	10	0.87932	D	0	-20.6028	14.417	0.67158	0.0:0.0:0.0:1.0	.	71	Q5VWC8	HACD4_HUMAN	G	71	ENSP00000426475:E71G;ENSP00000419503:E71G	ENSP00000419503:E71G	E	-	2	0	PTPLAD2	21016653	1.000000	0.71417	0.999000	0.59377	0.562000	0.35680	5.748000	0.68697	2.270000	0.75569	0.533000	0.62120	GAA		0.378	PTPLAD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055434.3	NM_001010915		6	96	0	0	0	1	0	6	96					C	21026653	T	C	21026653	3	2	388	1	0	0	0	0	1	0	0	0	12776	1783	62	4	506	4	PTPLAD2	9	21026653	Missense_Mutation	SNP	T	TCGA-V1-A9OQ-01A-11D-A41K-08		21026653	120186778	34	19064											
NPR2	4882	broad.mit.edu	37	chr9	35800721	35800721	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacagcctgcagcccactacTcgggagctgagaagcagatt	11	7	11	12	1	0	2	0	1	0	2	1	4	0	3	2	1	7	3	2	1	3	3			TCGA-V1-A9OQ-01A-11D-A41K-08	TCGA-V1-A9OQ-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b85059c-7e9e-4d42-a942-12cd919eea93	286b7dd0-24eb-48eb-b0f0-f9171d52b85a	g.chr9:35800721T>G	ENST00000342694.2	+	6	1489	c.1234T>G	c.(1234-1236)Tcg>Gcg	p.S412A		NM_003995.3	NP_003986.2	P20594	ANPRB_HUMAN	natriuretic peptide receptor 2	412					bone development (GO:0060348)|cell surface receptor signaling pathway (GO:0007166)|cellular response to granulocyte macrophage colony-stimulating factor stimulus (GO:0097011)|cGMP biosynthetic process (GO:0006182)|intracellular signal transduction (GO:0035556)|negative regulation of meiotic cell cycle (GO:0051447)|negative regulation of oocyte maturation (GO:1900194)|ossification (GO:0001503)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of blood pressure (GO:0008217)|signal transduction (GO:0007165)|single organism reproductive process (GO:0044702)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|hormone binding (GO:0042562)|natriuretic peptide receptor activity (GO:0016941)|peptide hormone binding (GO:0017046)|protein kinase activity (GO:0004672)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(2)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	45	all_epithelial(49;0.161)		LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194)		Erythrityl Tetranitrate(DB01613)|Nesiritide(DB04899)	AGCCCACTACTCGGGAGCTGA	0.617																																						ENST00000342694.2																			0				NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(2)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	45						c.(1234-1236)Tcg>Gcg		natriuretic peptide receptor B/guanylate cyclase B (atrionatriuretic peptide receptor B)	Erythrityl Tetranitrate(DB01613)|Nesiritide(DB04899)						51	52	52					9																	35800721		2203	4300	6503	SO:0001583	missense	4882				intracellular signal transduction|ossification|receptor guanylyl cyclase signaling pathway|regulation of blood pressure	integral to membrane|plasma membrane	GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|protein kinase activity|transmembrane receptor activity	g.chr9:35800721T>G	AJ005282	CCDS6590.1	9p21-p12	2014-03-03	2014-03-03		ENSG00000159899	ENSG00000159899			7944	protein-coding gene	gene with protein product	"guanylate cyclase B"	108961	"acromesomelic dysplasia, Maroteaux type", "atrionatriuretic peptide receptor B", "natriuretic peptide receptor B"	ANPRB, NPRB, AMDM		9634515, 15146390	Standard	XM_005251478		Approved	GUCY2B, ANPb	uc003zyd.3	P20594	OTTHUMG00000019871	ENST00000342694.2:c.1234T>G	9.37:g.35800721T>G	ENSP00000341083:p.Ser412Ala						p.S412A	NM_003995.3	NP_003986.2	P20594	ANPRB_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194)		6	1489	+	all_epithelial(49;0.161)		412					B0ZBF2|B0ZBF3|D3DRP3|D3DRP4|O60871|Q4VAK7|Q5TCV2|Q8TA93|Q9UQ50	Missense_Mutation	SNP	ENST00000342694.2	37	c.1234T>G	CCDS6590.1	.	.	.	.	.	.	.	.	.	.	T	9.097	1.003271	0.19121	.	.	ENSG00000159899	ENST00000342694	T	0.74842	-0.88	4.71	4.71	0.59529	.	0.000000	0.38111	N	0.001820	T	0.59905	0.2228	L	0.36672	1.1	0.32009	N	0.602389	B;B	0.21753	0.022;0.06	B;B	0.21917	0.037;0.03	T	0.57283	-0.7838	10	0.10377	T	0.69	.	9.0146	0.36161	0.1645:0.0:0.0:0.8355	.	412;412	P20594-2;P20594	.;ANPRB_HUMAN	A	412	ENSP00000341083:S412A	ENSP00000341083:S412A	S	+	1	0	NPR2	35790721	0.992000	0.36948	1.000000	0.80357	0.994000	0.84299	1.830000	0.39131	1.981000	0.57761	0.460000	0.39030	TCG		0.617	NPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052345.1			7	18	0	0	0	1	0	7	18					G	35800721	T	G	35800721	3	3	388	1	0	0	0	0	1	0	0	0	10595	1551	54	5	1256	5	NPR2	9	35800721	Missense_Mutation	SNP	T	TCGA-V1-A9OQ-01A-11D-A41K-08	14774068	35800721	105412710	35	19065											
SHC3	53358	broad.mit.edu	37	chr9	91657077	91657077	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acgtgcagtttcccttctggCgtgctgtagatgtccgagga	6	12	13	10	3	1	1	0	0	1	1	3	3	3	2	2	2	2	4	2	2	1	3	rs369413725		TCGA-V1-A9OQ-01A-11D-A41K-08	TCGA-V1-A9OQ-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b85059c-7e9e-4d42-a942-12cd919eea93	286b7dd0-24eb-48eb-b0f0-f9171d52b85a	g.chr9:91657077C>T	ENST00000375835.4	-	10	1530	c.1224G>A	c.(1222-1224)acG>acA	p.T408T	SHC3_ENST00000375831.1_5'Flank|SHC3_ENST00000375830.1_5'UTR	NM_016848.5	NP_058544.3	Q92529	SHC3_HUMAN	SHC (Src homology 2 domain containing) transforming protein 3	408	CH1.				central nervous system development (GO:0007417)|epidermal growth factor receptor signaling pathway (GO:0007173)|insulin receptor signaling pathway (GO:0008286)|learning or memory (GO:0007611)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Ras protein signal transduction (GO:0007265)|synaptic transmission, glutamatergic (GO:0035249)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytosol (GO:0005829)	signal transducer activity (GO:0004871)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|skin(3)	28						TCCCTTCTGGCGTGCTGTAGA	0.572																																						ENST00000375835.4																			0				breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|skin(3)	28						c.(1222-1224)acG>acA		SHC (Src homology 2 domain containing) transforming protein 3		C		1,4405	2.1+/-5.4	0,1,2202	115	120	118		1224	-0.7	0	9		118	0,8600		0,0,4300	no	coding-synonymous	SHC3	NM_016848.5		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		408/595	91657077	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	53358				central nervous system development|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|Ras protein signal transduction	cytosol	protein binding|signal transducer activity	g.chr9:91657077C>T	D84361	CCDS6681.1	9q22.1	2013-02-14	2005-05-24		ENSG00000148082	ENSG00000148082		"SH2 domain containing"	18181	protein-coding gene	gene with protein product		605263	"src homology 2 domain containing transforming protein C3"			8808684	Standard	NM_016848		Approved	N-Shc, NSHC, SHCC	uc004aqf.2	Q92529	OTTHUMG00000020179	ENST00000375835.4:c.1224G>A	9.37:g.91657077C>T						SHC3_ENST00000375830.1_5'UTR	p.T408T	NM_016848.5	NP_058544.3	Q92529	SHC3_HUMAN			10	1530	-			408			CH1.		Q5T7I7|Q8TAP2|Q9UCX5	Silent	SNP	ENST00000375835.4	37	c.1224G>A	CCDS6681.1																																																																																				0.572	SHC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052986.1	NM_016848		19	64	0	0	0	1	0	19	64					T	91657077	C	T	91657077	2	4	388	1	0	0	0	0	0	0	0	1	14272	755	27	1		1	SHC3	9	91657077	Silent	SNP	C	TCGA-V1-A9OQ-01A-11D-A41K-08	55856356	91657077	49556354	36	19066											
TLR4	7099	broad.mit.edu	37	chr9	120474878	120474878	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ctttgaaagaacttaatgtgGctcacaatcttatccaatct	13	14	5	9	0	3	2	1	1	2	1	4	2	4	2	1	1	1	1	1	1	6	3			TCGA-V1-A9OQ-01A-11D-A41K-08	TCGA-V1-A9OQ-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b85059c-7e9e-4d42-a942-12cd919eea93	286b7dd0-24eb-48eb-b0f0-f9171d52b85a	g.chr9:120474878G>T	ENST00000355622.6	+	3	573	c.472G>T	c.(472-474)Gct>Tct	p.A158S	TLR4_ENST00000394487.4_Missense_Mutation_p.A118S|TLR4_ENST00000472304.1_3'UTR	NM_138554.4|NM_138557.2	NP_612564.1|NP_612567.1	O00206	TLR4_HUMAN	toll-like receptor 4	158					activation of MAPK activity (GO:0000187)|B cell proliferation involved in immune response (GO:0002322)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to lipoteichoic acid (GO:0071223)|cellular response to mechanical stimulus (GO:0071260)|defense response to bacterium (GO:0042742)|defense response to Gram-negative bacterium (GO:0050829)|detection of fungus (GO:0016046)|detection of lipopolysaccharide (GO:0032497)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|I-kappaB phosphorylation (GO:0007252)|immune response (GO:0006955)|innate immune response (GO:0045087)|interferon-gamma production (GO:0032609)|intestinal epithelial structure maintenance (GO:0060729)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|macrophage activation (GO:0042116)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-17 production (GO:0032700)|negative regulation of interleukin-23 production (GO:0032707)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of tumor necrosis factor production (GO:0032720)|nitric oxide production involved in inflammatory response (GO:0002537)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of chemokine production (GO:0032722)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-1 production (GO:0032732)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 biosynthetic process (GO:0045084)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 biosynthetic process (GO:0045416)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of JNK cascade (GO:0046330)|positive regulation of macrophage cytokine production (GO:0060907)|positive regulation of MHC class II biosynthetic process (GO:0045348)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of nucleotide-binding oligomerization domain containing 1 signaling pathway (GO:0070430)|positive regulation of nucleotide-binding oligomerization domain containing 2 signaling pathway (GO:0070434)|positive regulation of platelet activation (GO:0010572)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of cytokine secretion (GO:0050707)|response to lipopolysaccharide (GO:0032496)|T-helper 1 type immune response (GO:0042088)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|endosome membrane (GO:0010008)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|lipopolysaccharide receptor complex (GO:0046696)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	lipopolysaccharide binding (GO:0001530)|lipopolysaccharide receptor activity (GO:0001875)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	103					Naloxone(DB01183)	ACTTAATGTGGCTCACAATCT	0.373																																						ENST00000355622.6																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	103						c.(472-474)Gct>Tct		toll-like receptor 4							95	99	98					9																	120474878		2203	4300	6503	SO:0001583	missense	7099				activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|I-kappaB phosphorylation|innate immune response|intestinal epithelial structure maintenance|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|T-helper 1 type immune response|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm	lipopolysaccharide receptor activity|transmembrane receptor activity	g.chr9:120474878G>T	U88880	CCDS6818.1	9q33.1	2013-01-23			ENSG00000136869	ENSG00000136869		"CD molecules"	11850	protein-coding gene	gene with protein product		603030				9435236, 9237759	Standard	NM_138554		Approved	hToll, CD284, TLR-4, ARMD10	uc004bjz.4	O00206	OTTHUMG00000021046	ENST00000355622.6:c.472G>T	9.37:g.120474878G>T	ENSP00000363089:p.Ala158Ser					TLR4_ENST00000472304.1_3'UTR|TLR4_ENST00000394487.4_Missense_Mutation_p.A118S	p.A158S	NM_138554.4|NM_138557.2	NP_612564.1|NP_612567.1	O00206	TLR4_HUMAN			3	573	+			158					A8K1Y8|A9XLP9|A9XLQ0|A9XLQ1|B4E194|D1CS52|D1CS53|Q5VZI8|Q5VZI9|Q9UK78|Q9UM57	Missense_Mutation	SNP	ENST00000355622.6	37	c.472G>T	CCDS6818.1	.	.	.	.	.	.	.	.	.	.	G	19.26	3.793122	0.70452	.	.	ENSG00000136869	ENST00000394487;ENST00000355622	T;T	0.07800	3.16;3.16	5.08	5.08	0.68730	.	0.093681	0.46442	D	0.000284	T	0.05135	0.0137	N	0.00500	-1.43	0.31806	N	0.627758	B	0.32425	0.371	P	0.49829	0.623	T	0.47923	-0.9079	10	0.13853	T	0.58	.	12.8696	0.57957	0.0783:0.0:0.9217:0.0	.	158	O00206	TLR4_HUMAN	S	118;158	ENSP00000377997:A118S;ENSP00000363089:A158S	ENSP00000363089:A158S	A	+	1	0	TLR4	119514699	1.000000	0.71417	1.000000	0.80357	0.828000	0.46876	4.647000	0.61418	2.360000	0.80028	0.655000	0.94253	GCT		0.373	TLR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055549.3	NM_138554		12	39	1	0	0.010729	1	0.011284	12	39					T	120474878	G	T	120474878	3	4	388	1	0	0	0	0	1	0	0	0	15950	1203	42	5	482	5	TLR4	9	120474878	Missense_Mutation	SNP	G	TCGA-V1-A9OQ-01A-11D-A41K-08	28817801	120474878	20738553	37	19067											
KIAA0913	23053	broad.mit.edu	37	chr10	75561146	75561146	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaatgcgatccggagtgccCgcagcgccttctgcctgacg	6	8	13	14	5	1	2	0	2	1	0	2	4	2	3	4	1	4	1	4	1	1	1			TCGA-V1-A9OQ-01A-11D-A41K-08	TCGA-V1-A9OQ-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b85059c-7e9e-4d42-a942-12cd919eea93	286b7dd0-24eb-48eb-b0f0-f9171d52b85a	g.chr10:75561146C>T	ENST00000605216.1	+	26	5600	c.5383C>T	c.(5383-5385)Cgc>Tgc	p.R1795C	ZSWIM8_ENST00000603114.1_Missense_Mutation_p.R1754C|RP11-574K11.31_ENST00000603027.1_3'UTR|ZSWIM8_ENST00000604729.1_Missense_Mutation_p.R1792C|ZSWIM8_ENST00000604524.1_Missense_Mutation_p.R1613C|ZSWIM8_ENST00000398706.2_Missense_Mutation_p.R1800C|ZSWIM8-AS1_ENST00000456638.2_RNA	NM_001242487.1	NP_001229416.1	A7E2V4	ZSWM8_HUMAN	zinc finger, SWIM-type containing 8	1795							zinc ion binding (GO:0008270)										CCGGAGTGCCCGCAGCGCCTT	0.582																																						ENST00000604729.1																			0											c.(5374-5376)Cgc>Tgc		zinc finger, SWIM-type containing 8							75	81	79					10																	75561146		2197	4284	6481	SO:0001583	missense	23053							g.chr10:75561146C>T	BC151206, BC040726	CCDS44440.1, CCDS60560.1	10q22.3	2012-11-02	2012-11-02	2012-11-02	ENSG00000214655	ENSG00000214655		"Zinc fingers, SWIM-type"	23528	protein-coding gene	gene with protein product			"KIAA0913"	KIAA0913			Standard	NM_015037		Approved	4832404P21Rik	uc001jvj.3	A7E2V4	OTTHUMG00000018486	ENST00000605216.1:c.5383C>T	10.37:g.75561146C>T	ENSP00000474748:p.Arg1795Cys					ZSWIM8_ENST00000604524.1_Missense_Mutation_p.R1613C|ZSWIM8_ENST00000603114.1_Missense_Mutation_p.R1754C|ZSWIM8_ENST00000605216.1_Missense_Mutation_p.R1795C|ZSWIM8_ENST00000398706.2_Missense_Mutation_p.R1800C|NDST2_ENST00000456638.1_5'UTR	p.R1792C							26	5671	+								B2RP37|O94987|Q17RS8|Q2TAB8|Q6P439|Q8IW81|Q8NB34|Q9H8F3	Missense_Mutation	SNP	ENST00000605216.1	37	c.5374C>T		.	.	.	.	.	.	.	.	.	.	C	17.11	3.304957	0.60305	.	.	ENSG00000214655	ENST00000398706	T	0.62788	-0.0	6.17	5.28	0.74379	.	.	.	.	.	T	0.74137	0.3677	.	.	.	0.58432	D	0.999996	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.63113	0.911;0.911;0.911;0.911	T	0.77040	-0.2735	8	0.87932	D	0	-0.0153	8.7648	0.34696	0.239:0.6872:0.0:0.0737	.	1795;1799;1787;1800	A7E2V4;A7E2V4-3;A7E2V4-5;A7E2V4-4	K0913_HUMAN;.;.;.	C	1800	ENSP00000381693:R1800C	ENSP00000381693:R1800C	R	+	1	0	KIAA0913	75231152	1.000000	0.71417	1.000000	0.80357	0.896000	0.52359	2.324000	0.43831	1.636000	0.50526	0.655000	0.94253	CGC		0.582	ZSWIM8-012	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000468545.1	NM_001242487		3	43	0	0	0	1	0	3	43					T	75561146	C	T	75561146	3	4	388	1	0	0	0	0	1	0	0	0	8200	652	23	2	5500	2	KIAA0913	10	75561146	Missense_Mutation	SNP	C	TCGA-V1-A9OQ-01A-11D-A41K-08		75561146	59973601	38	19068											
RPP30	10556	broad.mit.edu	37	chr10	92660334	92660334	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtttgttttacagaaactagAaaaactgcttttggaattat	14	16	7	4	0	0	2	0	0	0	2	0	3	0	3	0	1	4	3	0	1	7	7			TCGA-V1-A9OQ-01A-11D-A41K-08	TCGA-V1-A9OQ-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b85059c-7e9e-4d42-a942-12cd919eea93	286b7dd0-24eb-48eb-b0f0-f9171d52b85a	g.chr10:92660334A>G	ENST00000371703.3	+	11	976	c.705A>G	c.(703-705)agA>agG	p.R235R	RPP30_ENST00000413330.1_Silent_p.R235R|RPP30_ENST00000489806.1_3'UTR	NM_006413.4	NP_006404.1	P78346	RPP30_HUMAN	ribonuclease P/MRP 30kDa subunit	235					RNA phosphodiester bond hydrolysis (GO:0090501)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|tRNA processing (GO:0008033)	nucleolar ribonuclease P complex (GO:0005655)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|ribonuclease P activity (GO:0004526)			central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1)	8						CAGAAACTAGAAAAACTGCTT	0.388																																						ENST00000413330.1																			0				central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1)	8						c.(703-705)agA>agG		ribonuclease P/MRP 30kDa subunit							170	187	181					10																	92660334		2203	4300	6503	SO:0001819	synonymous_variant	10556				tRNA processing	nucleolar ribonuclease P complex	protein binding|ribonuclease P activity	g.chr10:92660334A>G	BC006991	CCDS7411.1, CCDS44458.1	10q23.32-q23.33	2012-05-21			ENSG00000148688	ENSG00000148688			17688	protein-coding gene	gene with protein product		606115				9037013, 9308968	Standard	NM_006413		Approved	TSG15	uc001khd.2	P78346	OTTHUMG00000018733	ENST00000371703.3:c.705A>G	10.37:g.92660334A>G						RPP30_ENST00000489806.1_3'UTR|RPP30_ENST00000371703.3_Silent_p.R235R	p.R235R	NM_001104546.1	NP_001098016.1	P78346	RPP30_HUMAN			11	740	+			235					B2R799|E9PB02	Silent	SNP	ENST00000371703.3	37	c.705A>G	CCDS7411.1																																																																																				0.388	RPP30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049347.1	NM_006413		41	88	0	0	0	1	0	41	88					G	92660334	A	G	92660334	2	3	388	1	0	0	0	0	0	0	0	1	13612	243	9	4		4	RPP30	10	92660334	Silent	SNP	A	TCGA-V1-A9OQ-01A-11D-A41K-08	17099188	92660334	42874413	39	19069											
LCOR	84458	broad.mit.edu	37	chr10	98711871	98711871	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tctctgcagacggtgtacttGatctgtccactaagaaaagt	11	12	9	9	1	2	3	0	1	2	2	4	3	3	3	1	1	2	2	1	1	4	3			TCGA-V1-A9OQ-01A-11D-A41K-08	TCGA-V1-A9OQ-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b85059c-7e9e-4d42-a942-12cd919eea93	286b7dd0-24eb-48eb-b0f0-f9171d52b85a	g.chr10:98711871G>C	ENST00000371097.4	+	7	796	c.250G>C	c.(250-252)Gat>Cat	p.D84H	LCOR_ENST00000356016.3_Missense_Mutation_p.D84H|LCOR_ENST00000540664.1_Missense_Mutation_p.D84H|LCOR_ENST00000498444.1_3'UTR|LCOR_ENST00000371103.3_Missense_Mutation_p.D84H			Q96JN0	LCOR_HUMAN	ligand dependent nuclear receptor corepressor	84					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|kidney(1)|large_intestine(3)|lung(1)|ovary(3)|prostate(1)|urinary_tract(1)	13		Colorectal(252;0.162)		Epithelial(162;4.43e-09)|all cancers(201;2.96e-07)		CGGTGTACTTGATCTGTCCAC	0.438																																						ENST00000540664.1																			0				endometrium(3)|kidney(1)|large_intestine(3)|lung(1)|ovary(3)|prostate(1)|urinary_tract(1)	13						c.(250-252)Gat>Cat		ligand dependent nuclear receptor corepressor							105	104	104					10																	98711871		2203	4300	6503	SO:0001583	missense	84458							g.chr10:98711871G>C		CCDS7451.1, CCDS53561.1	10q24	2006-06-28			ENSG00000196233	ENSG00000196233			29503	protein-coding gene	gene with protein product		607698				12535528, 15193453	Standard	NM_001170765		Approved	MLR2, FLJ38026, KIAA1795		Q96JN0	OTTHUMG00000018841	ENST00000371097.4:c.250G>C	10.37:g.98711871G>C	ENSP00000360138:p.Asp84His					LCOR_ENST00000371103.3_Missense_Mutation_p.D84H|LCOR_ENST00000498444.1_3'UTR|LCOR_ENST00000356016.3_Missense_Mutation_p.D84H|LCOR_ENST00000371097.4_Missense_Mutation_p.D84H	p.D84H	NM_001170765.1|NM_001170766.1	NP_001164236.1|NP_001164237.1				Epithelial(162;4.43e-09)|all cancers(201;2.96e-07)	7	793	+		Colorectal(252;0.162)						D3DR47|Q5VW16|Q7Z723|Q86T32|Q86T33|Q8N3L6	Missense_Mutation	SNP	ENST00000371097.4	37	c.250G>C	CCDS7451.1	.	.	.	.	.	.	.	.	.	.	G	26.0	4.698270	0.88830	.	.	ENSG00000196233	ENST00000540664;ENST00000371103;ENST00000371097;ENST00000356016	.	.	.	5.97	5.97	0.96955	.	0.000000	0.85682	D	0.000000	T	0.78278	0.4258	L	0.60455	1.87	0.54753	D	0.999987	D;D	0.76494	0.998;0.999	D;D	0.79784	0.993;0.984	T	0.78196	-0.2298	9	0.87932	D	0	-3.7524	20.4324	0.99085	0.0:0.0:1.0:0.0	.	84;84	Q96JN0;Q96JN0-2	LCOR_HUMAN;.	H	84	.	ENSP00000348298:D84H	D	+	1	0	LCOR	98701861	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.849000	0.86908	2.833000	0.97629	0.585000	0.79938	GAT		0.438	LCOR-009	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049628.2			10	29	0	0	0	1	0	10	29					C	98711871	G	C	98711871	3	2	388	1	0	0	0	0	1	0	0	0	8689	1290	45	5	256	5	LCOR	10	98711871	Missense_Mutation	SNP	G	TCGA-V1-A9OQ-01A-11D-A41K-08	6051537	98711871	36822876	40	19070											
OR10AG1	282770	broad.mit.edu	37	chr11	55735784	55735784	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agggaaaaattgctaagaaaAaaatacatgggagtctggag	19	7	12	3	0	1	1	0	0	1	1	1	4	1	4	0	3	2	1	0	3	7	3			TCGA-V1-A9OQ-01A-11D-A41K-08	TCGA-V1-A9OQ-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b85059c-7e9e-4d42-a942-12cd919eea93	286b7dd0-24eb-48eb-b0f0-f9171d52b85a	g.chr11:55735784A>C	ENST00000312345.2	-	1	206	c.156T>G	c.(154-156)ttT>ttG	p.F52L		NM_001005491.1	NP_001005491.1	Q8NH19	O10AG_HUMAN	olfactory receptor, family 10, subfamily AG, member 1	52						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(24)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	40	Esophageal squamous(21;0.0137)					TGCTAAGAAAAAAATACATGG	0.323																																						ENST00000312345.2																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(24)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	40						c.(154-156)ttT>ttG		olfactory receptor, family 10, subfamily AG, member 1							52	60	58					11																	55735784		2199	4296	6495	SO:0001583	missense	282770				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55735784A>C	AB065594	CCDS31514.1	11q11	2012-08-09			ENSG00000174970	ENSG00000174970		"GPCR / Class A : Olfactory receptors"	19607	protein-coding gene	gene with protein product							Standard	NM_001005491		Approved		uc010rit.2	Q8NH19	OTTHUMG00000166824	ENST00000312345.2:c.156T>G	11.37:g.55735784A>C	ENSP00000311477:p.Phe52Leu						p.F52L	NM_001005491.1	NP_001005491.1	Q8NH19	O10AG_HUMAN			1	206	-	Esophageal squamous(21;0.0137)		52					B2RNH4|Q6IEU3	Missense_Mutation	SNP	ENST00000312345.2	37	c.156T>G	CCDS31514.1	.	.	.	.	.	.	.	.	.	.	A	14.59	2.579788	0.46006	.	.	ENSG00000174970	ENST00000312345	T	0.00551	6.65	5.36	3.04	0.35103	GPCR, rhodopsin-like superfamily (1);	0.000000	0.51477	D	0.000089	T	0.01421	0.0046	M	0.74647	2.275	0.29709	N	0.839512	D	0.67145	0.996	P	0.62184	0.899	T	0.26052	-1.0114	10	0.72032	D	0.01	.	6.8692	0.24111	0.7338:0.0:0.2662:0.0	.	52	Q8NH19	O10AG_HUMAN	L	52	ENSP00000311477:F52L	ENSP00000311477:F52L	F	-	3	2	OR10AG1	55492360	0.912000	0.30974	0.989000	0.46669	0.282000	0.26991	0.416000	0.21198	0.379000	0.24794	0.391000	0.25812	TTT		0.323	OR10AG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391531.1	NM_001005491		19	37	0	0	0	1	0	19	37					C	55735784	A	C	55735784	3	2	388	1	0	0	0	0	1	0	0	0	10897	11	1	5	752	5	OR10AG1	11	55735784	Missense_Mutation	SNP	A	TCGA-V1-A9OQ-01A-11D-A41K-08		55735784	79270732	41	19071											
GUCY1A2	2977	broad.mit.edu	37	chr11	106810741	106810741	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gatggtgactccagagtggcCtgttttccaaaagaagttct	10	12	11	8	0	1	3	0	1	1	2	3	4	3	3	3	2	0	2	3	2	3	3			TCGA-V1-A9OQ-01A-11D-A41K-08	TCGA-V1-A9OQ-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b85059c-7e9e-4d42-a942-12cd919eea93	286b7dd0-24eb-48eb-b0f0-f9171d52b85a	g.chr11:106810741C>G	ENST00000526355.2	-	4	1119	c.651G>C	c.(649-651)caG>caC	p.Q217H	GUCY1A2_ENST00000282249.2_Missense_Mutation_p.Q217H|GUCY1A2_ENST00000347596.2_Missense_Mutation_p.Q217H	NM_000855.2	NP_000846.1	P33402	GCYA2_HUMAN	guanylate cyclase 1, soluble, alpha 2	217					blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|positive regulation of cGMP biosynthetic process (GO:0030828)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|heme binding (GO:0020037)			breast(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(18)|liver(1)|lung(32)|ovary(1)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	74		all_epithelial(67;3.66e-05)|Melanoma(852;0.000382)|Acute lymphoblastic leukemia(157;0.001)|all_hematologic(158;0.0017)|Breast(348;0.026)|all_neural(303;0.068)		BRCA - Breast invasive adenocarcinoma(274;8.04e-05)|Epithelial(105;0.0036)|all cancers(92;0.0476)	Isosorbide Mononitrate(DB01020)|Nitric Oxide(DB00435)	CCAGAGTGGCCTGTTTTCCAA	0.463																																						ENST00000526355.1																			0				breast(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(18)|liver(1)|lung(32)|ovary(1)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	74						c.(649-651)caG>caC		guanylate cyclase 1, soluble, alpha 2							97	104	101					11																	106810741		2201	4298	6499	SO:0001583	missense	2977				intracellular signal transduction|platelet activation	cytoplasm	GTP binding|guanylate cyclase activity|heme binding	g.chr11:106810741C>G	X63282	CCDS8335.1, CCDS58170.1	11q21-q22	2008-03-18			ENSG00000152402	ENSG00000152402	4.6.1.2		4684	protein-coding gene	gene with protein product		601244		GUC1A2		1683630	Standard	NM_000855		Approved	GC-SA2	uc001pjg.2	P33402	OTTHUMG00000166296	ENST00000526355.2:c.651G>C	11.37:g.106810741C>G	ENSP00000431245:p.Gln217His					GUCY1A2_ENST00000347596.2_Missense_Mutation_p.Q217H|GUCY1A2_ENST00000282249.2_Missense_Mutation_p.Q217H	p.Q217H	NM_000855.2	NP_000846.1	P33402	GCYA2_HUMAN		BRCA - Breast invasive adenocarcinoma(274;8.04e-05)|Epithelial(105;0.0036)|all cancers(92;0.0476)	4	1119	-		all_epithelial(67;3.66e-05)|Melanoma(852;0.000382)|Acute lymphoblastic leukemia(157;0.001)|all_hematologic(158;0.0017)|Breast(348;0.026)|all_neural(303;0.068)	217					A1L4C4|B7ZLT5	Missense_Mutation	SNP	ENST00000526355.2	37	c.651G>C	CCDS8335.1	.	.	.	.	.	.	.	.	.	.	C	13.67	2.306708	0.40795	.	.	ENSG00000152402	ENST00000526355;ENST00000282249;ENST00000347596	D;D;D	0.87179	-1.89;-2.22;-1.89	5.01	4.1	0.47936	Heme-NO binding (1);NO signalling/Golgi transport  ligand-binding domain (1);	0.000000	0.42964	U	0.000622	D	0.89305	0.6677	L	0.43152	1.355	0.48696	D	0.99969	D;D;D	0.67145	0.996;0.987;0.996	D;P;P	0.64877	0.93;0.905;0.897	D	0.88930	0.3372	10	0.52906	T	0.07	.	12.3228	0.54993	0.0:0.9182:0.0:0.0818	.	217;217;217	B7ZLT5;P33402-2;P33402	.;.;GCYA2_HUMAN	H	217	ENSP00000431245:Q217H;ENSP00000282249:Q217H;ENSP00000344874:Q217H	ENSP00000282249:Q217H	Q	-	3	2	GUCY1A2	106315951	1.000000	0.71417	1.000000	0.80357	0.796000	0.44982	2.711000	0.47177	1.108000	0.41662	0.591000	0.81541	CAG		0.463	GUCY1A2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389003.2			16	49	0	0	0	1	0	16	49					G	106810741	C	G	106810741	3	3	388	1	0	0	0	0	1	0	0	0	6893	680	24	5	1567	5	GUCY1A2	11	106810741	Missense_Mutation	SNP	C	TCGA-V1-A9OQ-01A-11D-A41K-08	51074957	106810741	28195775	42	19072											
SLC2A3	6515	broad.mit.edu	37	chr12	8083194	8083194	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atggtaaaacccagtagcagCggccatagctcttcagaccc	12	7	9	13	1	2	1	1	0	1	1	2	1	2	1	3	2	4	4	3	2	4	4			TCGA-V1-A9OQ-01A-11D-A41K-08	TCGA-V1-A9OQ-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b85059c-7e9e-4d42-a942-12cd919eea93	286b7dd0-24eb-48eb-b0f0-f9171d52b85a	g.chr12:8083194C>T	ENST00000075120.7	-	5	795	c.555G>A	c.(553-555)ccG>ccA	p.P185P		NM_006931.2	NP_008862.1	P11169	GTR3_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 3	185					carbohydrate metabolic process (GO:0005975)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|L-ascorbic acid metabolic process (GO:0019852)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	glucose transmembrane transporter activity (GO:0005355)	p.P185P(1)		central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(14)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30				Kidney(36;0.0866)		CCAGTAGCAGCGGCCATAGCT	0.443																																					Colon(96;424 1461 14416 20933 23688)	ENST00000075120.7																			1	Substitution - coding silent(1)	p.P185P(1)	large_intestine(1)	central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(14)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						c.(553-555)ccG>ccA		solute carrier family 2 (facilitated glucose transporter), member 3							104	101	102					12																	8083194		2203	4300	6503	SO:0001819	synonymous_variant	6515				carbohydrate metabolic process|water-soluble vitamin metabolic process	integral to membrane|plasma membrane	D-glucose transmembrane transporter activity|dehydroascorbic acid transporter activity	g.chr12:8083194C>T	M20681	CCDS8586.1	12p13.3	2013-05-22			ENSG00000059804	ENSG00000059804		"Solute carriers"	11007	protein-coding gene	gene with protein product		138170		GLUT3			Standard	NM_006931		Approved		uc001qtr.3	P11169	OTTHUMG00000133685	ENST00000075120.7:c.555G>A	12.37:g.8083194C>T							p.P185P	NM_006931.2	NP_008862.1	P11169	GTR3_HUMAN		Kidney(36;0.0866)	5	795	-			185					B2R606|D3DUU6|Q6I9U2|Q9UG15	Silent	SNP	ENST00000075120.7	37	c.555G>A	CCDS8586.1																																																																																				0.443	SLC2A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257914.1	NM_006931		4	77	0	0	0	1	0	4	77					T	8083194	C	T	8083194	2	4	388	1	0	0	0	0	0	0	0	1	14545	755	27	1		1	SLC2A3	12	8083194	Silent	SNP	C	TCGA-V1-A9OQ-01A-11D-A41K-08		8083194	125768701	43	19073											
CDKN1B	1027	broad.mit.edu	37	chr12	12870888	12870888	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttcggcccggtggaccacGaagagttaacccgggacttg	8	8	13	12	4	1	1	0	0	1	1	2	4	1	3	3	4	1	1	3	4	2	3			TCGA-V1-A9OQ-01A-11D-A41K-08	TCGA-V1-A9OQ-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b85059c-7e9e-4d42-a942-12cd919eea93	286b7dd0-24eb-48eb-b0f0-f9171d52b85a	g.chr12:12870888G>T	ENST00000228872.4	+	1	831	c.115G>T	c.(115-117)Gaa>Taa	p.E39*	CDKN1B_ENST00000396340.1_Nonsense_Mutation_p.E39*|CDKN1B_ENST00000477087.1_Intron	NM_004064.3	NP_004055.1	P46527	CDN1B_HUMAN	cyclin-dependent kinase inhibitor 1B (p27, Kip1)	39					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|autophagic cell death (GO:0048102)|cell cycle arrest (GO:0007050)|cellular response to antibiotic (GO:0071236)|cellular response to lithium ion (GO:0071285)|cellular response to organic cyclic compound (GO:0071407)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G1/S transition of mitotic cell cycle (GO:0000082)|innate immune response (GO:0045087)|inner ear development (GO:0048839)|mitotic cell cycle (GO:0000278)|mitotic cell cycle arrest (GO:0071850)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cellular component movement (GO:0051271)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|negative regulation of kinase activity (GO:0033673)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of phosphorylation (GO:0042326)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell death (GO:0010942)|positive regulation of cell proliferation (GO:0008284)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of protein catabolic process (GO:0045732)|potassium ion transport (GO:0006813)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|response to amino acid (GO:0043200)|response to cadmium ion (GO:0046686)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to glucose (GO:0009749)|response to hypoxia (GO:0001666)|response to peptide hormone (GO:0043434)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|protein phosphatase binding (GO:0019903)|transforming growth factor beta receptor, cytoplasmic mediator activity (GO:0005072)	p.E39Q(1)		breast(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(5)	13		Prostate(47;0.0322)|all_epithelial(100;0.159)		BRCA - Breast invasive adenocarcinoma(232;0.0336)		GGTGGACCACGAAGAGTTAAC	0.602																																						ENST00000228872.4																			1	Substitution - Missense(1)	p.E39Q(1)	lung(1)	breast(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(5)	13						c.(115-117)Gaa>Taa		cyclin-dependent kinase inhibitor 1B (p27, Kip1)							63	73	70					12																	12870888		2203	4300	6503	SO:0001587	stop_gained	1027				autophagic cell death|cell cycle arrest|cellular response to lithium ion|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of transcription, DNA-dependent|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of protein catabolic process|S phase of mitotic cell cycle	cytosol|endosome|nucleoplasm	cyclin-dependent protein kinase inhibitor activity|protein phosphatase binding|transforming growth factor beta receptor, cytoplasmic mediator activity	g.chr12:12870888G>T	AF480891	CCDS8653.1	12p13.1-p12	2008-08-04			ENSG00000111276	ENSG00000111276			1785	protein-coding gene	gene with protein product		600778				8033212	Standard	NM_004064		Approved	KIP1, P27KIP1	uc001rat.2	P46527	OTTHUMG00000149914	ENST00000228872.4:c.115G>T	12.37:g.12870888G>T	ENSP00000228872:p.Glu39*					CDKN1B_ENST00000477087.1_Intron|CDKN1B_ENST00000396340.1_Nonsense_Mutation_p.E39*	p.E39*	NM_004064.3	NP_004055.1	P46527	CDN1B_HUMAN		BRCA - Breast invasive adenocarcinoma(232;0.0336)	1	831	+		Prostate(47;0.0322)|all_epithelial(100;0.159)	39					Q16307|Q5U0H2|Q9BUS6	Nonsense_Mutation	SNP	ENST00000228872.4	37	c.115G>T	CCDS8653.1	.	.	.	.	.	.	.	.	.	.	G	45	11.507607	0.99570	.	.	ENSG00000111276	ENST00000228872;ENST00000396340;ENST00000442489	.	.	.	5.15	4.26	0.50523	.	0.066188	0.64402	D	0.000011	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	-18.9193	13.4138	0.60958	0.077:0.0:0.923:0.0	.	.	.	.	X	39;39;32	.	ENSP00000228872:E39X	E	+	1	0	CDKN1B	12762155	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	9.356000	0.97091	1.176000	0.42840	0.655000	0.94253	GAA		0.602	CDKN1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313878.2	NM_004064		5	70	1	0	4.096e-09	1	4.54284e-09	5	70					T	12870888	G	T	12870888	4	4	388	1	0	0	0	0	0	1	0	0	3159	1059	37	5	117	5	CDKN1B	12	12870888	Nonsense_Mutation	SNP	G	TCGA-V1-A9OQ-01A-11D-A41K-08	4787694	12870888	120981007	44	19074											
DNM1L	10059	broad.mit.edu	37	chr12	32886660	32886660	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tttttctaggtccataacttAgtggcaattgaactggctta	10	16	8	7	0	1	1	0	1	1	0	2	1	2	1	1	3	2	2	1	3	6	7			TCGA-V1-A9OQ-01A-11D-A41K-08	TCGA-V1-A9OQ-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b85059c-7e9e-4d42-a942-12cd919eea93	286b7dd0-24eb-48eb-b0f0-f9171d52b85a	g.chr12:32886660A>T	ENST00000549701.1	+	13	1532	c.1458A>T	c.(1456-1458)ttA>ttT	p.L486F	DNM1L_ENST00000547312.1_Missense_Mutation_p.L486F|DNM1L_ENST00000553257.1_Missense_Mutation_p.L499F|DNM1L_ENST00000452533.2_Missense_Mutation_p.L486F|DNM1L_ENST00000381000.4_Missense_Mutation_p.L499F|DNM1L_ENST00000358214.5_Missense_Mutation_p.L499F|YARS2_ENST00000551673.1_Intron|DNM1L_ENST00000266481.6_Missense_Mutation_p.L486F|DNM1L_ENST00000414834.2_Missense_Mutation_p.L283F			O00429	DNM1L_HUMAN	dynamin 1-like	486	Interaction with GSK3B.|Middle domain.				apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|dynamin polymerization involved in mitochondrial fission (GO:0003374)|endocytosis (GO:0006897)|GTP catabolic process (GO:0006184)|membrane fission involved in mitochondrial fission (GO:0090149)|membrane fusion (GO:0061025)|mitochondrial fission (GO:0000266)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|mitochondrion morphogenesis (GO:0070584)|necroptotic process (GO:0070266)|peroxisome fission (GO:0016559)|positive regulation of apoptotic process (GO:0043065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial fission (GO:0090141)|positive regulation of protein secretion (GO:0050714)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|protein homotetramerization (GO:0051289)|protein localization to mitochondrion (GO:0070585)|regulation of mitochondrion organization (GO:0010821)|regulation of peroxisome organization (GO:1900063)|regulation of protein oligomerization (GO:0032459)|release of cytochrome c from mitochondria (GO:0001836)	cell junction (GO:0030054)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|microtubule (GO:0005874)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|perinuclear region of cytoplasm (GO:0048471)|peroxisome (GO:0005777)|protein complex (GO:0043234)|synapse (GO:0045202)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|lipid binding (GO:0008289)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	23	Lung NSC(5;2.15e-06)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)					TCCATAACTTAGTGGCAATTG	0.289																																						ENST00000452533.2																			0				cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	23						c.(1456-1458)ttA>ttT		dynamin 1-like							201	208	205					12																	32886660		2203	4300	6503	SO:0001583	missense	10059				cellular component disassembly involved in apoptosis|mitochondrial fragmentation involved in apoptosis|mitochondrial membrane organization|positive regulation of mitochondrial fission	cis-Golgi network|cytosol|endomembrane system|endoplasmic reticulum|mitochondrial outer membrane	GTP binding|GTPase activity|ubiquitin protein ligase binding	g.chr12:32886660A>T	AF000430	CCDS8728.1, CCDS8729.1, CCDS8730.1, CCDS61095.1, CCDS61096.1, CCDS61098.1, CCDS61099.1	12p11.21	2012-10-02			ENSG00000087470	ENSG00000087470			2973	protein-coding gene	gene with protein product		603850				9348079, 9731200	Standard	NM_012062		Approved	DRP1, DVLP, HDYNIV, DYMPLE, VPS1	uc001rld.2	O00429	OTTHUMG00000169451	ENST00000549701.1:c.1458A>T	12.37:g.32886660A>T	ENSP00000450399:p.Leu486Phe					DNM1L_ENST00000547312.1_Missense_Mutation_p.L486F|DNM1L_ENST00000414834.2_Missense_Mutation_p.L283F|YARS2_ENST00000551673.1_Intron|DNM1L_ENST00000381000.4_Missense_Mutation_p.L499F|DNM1L_ENST00000358214.5_Missense_Mutation_p.L499F|DNM1L_ENST00000266481.6_Missense_Mutation_p.L486F|DNM1L_ENST00000553257.1_Missense_Mutation_p.L499F|DNM1L_ENST00000549701.1_Missense_Mutation_p.L486F	p.L486F	NM_012062.3|NM_012063.2	NP_036192.2|NP_036193.2	O00429	DNM1L_HUMAN			13	1622	+	Lung NSC(5;2.15e-06)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)		486			Interaction with GSK3B.|Middle domain.		A8K4X9|B4DGC9|B4DSU8|J3KPI2|O14541|O60709|Q59GN9|Q7L6B3|Q8TBT7|Q9BWM1|Q9Y5J2	Missense_Mutation	SNP	ENST00000549701.1	37	c.1458A>T	CCDS8729.1	.	.	.	.	.	.	.	.	.	.	A	19.34	3.809491	0.70797	.	.	ENSG00000087470	ENST00000452533;ENST00000411996;ENST00000266479;ENST00000553257;ENST00000549701;ENST00000358214;ENST00000266481;ENST00000547312;ENST00000414834;ENST00000381000	T;T;T;T;T;T;T;T	0.76578	-1.03;-1.03;-1.03;-1.03;-1.03;-1.03;-1.03;-1.03	5.42	1.89	0.25635	Dynamin central domain (1);	0.133153	0.49916	D	0.000131	D	0.85775	0.5775	M	0.84156	2.68	0.58432	D	0.999996	D;P;P;P;P;P	0.71674	0.998;0.911;0.911;0.936;0.911;0.581	D;P;P;P;P;P	0.70487	0.969;0.782;0.702;0.577;0.702;0.589	D	0.84488	0.0609	10	0.72032	D	0.01	.	8.4264	0.32731	0.5574:0.0:0.4426:0.0	.	283;539;539;552;539;486	B4DGC9;D3DUW6;D3DUW5;F8W8D1;D3DUW7;O00429	.;.;.;.;.;DNM1L_HUMAN	F	486;552;486;499;486;499;486;486;283;499	ENSP00000415131:L486F;ENSP00000449089:L499F;ENSP00000450399:L486F;ENSP00000350948:L499F;ENSP00000266481:L486F;ENSP00000448610:L486F;ENSP00000404160:L283F;ENSP00000370388:L499F	ENSP00000266479:L486F	L	+	3	2	DNM1L	32777927	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.895000	0.48648	0.388000	0.25054	0.460000	0.39030	TTA		0.289	DNM1L-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000404124.1	NM_012062		17	169	0	0	0	1	0	17	169					T	32886660	A	T	32886660	3	4	388	1	0	0	0	0	1	0	0	0	4671	417	15	5	1508	5	DNM1L	12	32886660	Missense_Mutation	SNP	A	TCGA-V1-A9OQ-01A-11D-A41K-08	20015772	32886660	100965235	45	19075											
NT5DC3	51559	broad.mit.edu	37	chr12	104186976	104186976	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	aaagaagtttggcttctcagCctgaacaatgaccacatcga	14	9	8	10	1	1	3	1	2	1	1	3	4	1	3	2	1	2	2	2	1	4	2			TCGA-V1-A9OQ-01A-11D-A41K-08	TCGA-V1-A9OQ-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b85059c-7e9e-4d42-a942-12cd919eea93	286b7dd0-24eb-48eb-b0f0-f9171d52b85a	g.chr12:104186976C>T	ENST00000392876.3	-	9	1025	c.985G>A	c.(985-987)Gct>Act	p.A329T		NM_001031701.2	NP_001026871.1	Q86UY8	NT5D3_HUMAN	5'-nucleotidase domain containing 3	329						cytosol (GO:0005829)|mitochondrion (GO:0005739)|receptor complex (GO:0043235)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(15)|ovary(2)|skin(1)|stomach(2)	30						GGCTTCTCAGCCTGAACAATG	0.428																																						ENST00000392876.3																			0				NS(1)|breast(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(15)|ovary(2)|skin(1)|stomach(2)	30						c.(985-987)Gct>Act		5'-nucleotidase domain containing 3							186	195	192					12																	104186976		2203	4300	6503	SO:0001583	missense	51559						hydrolase activity|metal ion binding	g.chr12:104186976C>T	AB032786	CCDS41824.1	12q22-q23.1	2006-02-03			ENSG00000111696	ENSG00000111696			30826	protein-coding gene	gene with protein product		611076					Standard	NM_001031701		Approved	TU12B1-TY, FLJ11266	uc010swe.1	Q86UY8	OTTHUMG00000157017	ENST00000392876.3:c.985G>A	12.37:g.104186976C>T	ENSP00000376615:p.Ala329Thr						p.A329T	NM_001031701.2	NP_001026871.1	Q86UY8	NT5D3_HUMAN			9	1025	-			329					Q9NUM7|Q9P2T2|Q9P2T3	Missense_Mutation	SNP	ENST00000392876.3	37	c.985G>A	CCDS41824.1	.	.	.	.	.	.	.	.	.	.	C	36	5.720555	0.96839	.	.	ENSG00000111696	ENST00000392876	T	0.47869	0.83	5.99	5.99	0.97316	HAD-like domain (2);	0.000000	0.85682	D	0.000000	T	0.72028	0.3410	M	0.77406	2.37	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.72360	-0.4317	10	0.62326	D	0.03	-28.8242	20.4777	0.99188	0.0:1.0:0.0:0.0	.	329	Q86UY8	NT5D3_HUMAN	T	329	ENSP00000376615:A329T	ENSP00000376615:A329T	A	-	1	0	NT5DC3	102711106	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.776000	0.85560	2.840000	0.97914	0.655000	0.94253	GCT		0.428	NT5DC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347118.2	NM_016575		59	122	0	0	0	1	0	59	122					T	104186976	C	T	104186976	3	4	388	1	0	0	0	0	1	0	0	0	10692	739	26	3	685	3	NT5DC3	12	104186976	Missense_Mutation	SNP	C	TCGA-V1-A9OQ-01A-11D-A41K-08	71300316	104186976	29664919	46	19076											
WBP4	11193	broad.mit.edu	37	chr13	41654831	41654831	+	Frame_Shift_Del	DEL	A	A	-																															tgacccagaaacacagaaagAaaaaagtattcagaaacaga																										TCGA-V1-A9OQ-01A-11D-A41K-08	TCGA-V1-A9OQ-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b85059c-7e9e-4d42-a942-12cd919eea93	286b7dd0-24eb-48eb-b0f0-f9171d52b85a	g.chr13:41654831delA	ENST00000379487.3	+	9	1206	c.806delA	c.(805-807)gaafs	p.E269fs	WBP4_ENST00000542082.1_Frame_Shift_Del_p.E248fs	NM_007187.3	NP_009118.1	O75554	WBP4_HUMAN	WW domain binding protein 4	269					mRNA cis splicing, via spliceosome (GO:0045292)	nuclear speck (GO:0016607)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spliceosomal complex (GO:0005681)	nucleic acid binding (GO:0003676)|proline-rich region binding (GO:0070064)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(2)|lung(2)|prostate(1)|skin(1)	12		Lung NSC(96;3.55e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)		all cancers(112;3.11e-09)|Epithelial(112;3.37e-06)|OV - Ovarian serous cystadenocarcinoma(117;8.3e-05)|GBM - Glioblastoma multiforme(144;0.00102)|BRCA - Breast invasive adenocarcinoma(63;0.07)		ACACAGAAAGAAAAAAGTATT	0.308																																						ENST00000379487.3																			0				breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(2)|lung(2)|prostate(1)|skin(1)	12						c.(805-807)gafs		WW domain binding protein 4							66	68	68					13																	41654831		2203	4299	6502	SO:0001589	frameshift_variant	11193				nuclear mRNA cis splicing, via spliceosome	nuclear speck|spliceosomal complex	nucleic acid binding|proline-rich region binding|zinc ion binding	g.chr13:41654831delA	AF071185	CCDS9375.1	13q13.3	2012-10-17	2012-10-17		ENSG00000120688	ENSG00000120688			12739	protein-coding gene	gene with protein product	"formin binding protein 21"	604981				9724750	Standard	NM_007187		Approved	FBP21, MGC117310	uc001uxt.3	O75554	OTTHUMG00000016784	ENST00000379487.3:c.806delA	13.37:g.41654831delA	ENSP00000368801:p.Glu269fs					WBP4_ENST00000542082.1_Frame_Shift_Del_p.E248fs	p.E269fs	NM_007187.3	NP_009118.1	O75554	WBP4_HUMAN		all cancers(112;3.11e-09)|Epithelial(112;3.37e-06)|OV - Ovarian serous cystadenocarcinoma(117;8.3e-05)|GBM - Glioblastoma multiforme(144;0.00102)|BRCA - Breast invasive adenocarcinoma(63;0.07)	9	1206	+		Lung NSC(96;3.55e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)	269					B7Z4M2|Q32P29	Frame_Shift_Del	DEL	ENST00000379487.3	37	c.806delA	CCDS9375.1																																																																																				0.308	WBP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044655.2	NM_007187		21	22						21	22	---	---	---	---	-	41654831	A	-	41654831	7	5	388	1	0	1	0	1	0	0	0	0	17258	246	9	0	840	0	WBP4	13	41654831	Frame_Shift_Del	DEL	A	TCGA-V1-A9OQ-01A-11D-A41K-08		41654831	73515047	47	19077											
FOXA1	3169	broad.mit.edu	37	chr14	38061191	38061191	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccggctgcttctcgcacttGaagcgcttctggcggcgcaa	5	9	12	15	5	2	1	0	1	2	0	3	1	2	1	1	3	2	5	1	3	2	3			TCGA-V1-A9OQ-01A-11D-A41K-08	TCGA-V1-A9OQ-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b85059c-7e9e-4d42-a942-12cd919eea93	286b7dd0-24eb-48eb-b0f0-f9171d52b85a	g.chr14:38061191G>T	ENST00000250448.2	-	2	859	c.798C>A	c.(796-798)ttC>ttA	p.F266L	FOXA1_ENST00000540786.1_Missense_Mutation_p.F233L|FOXA1_ENST00000545425.2_5'UTR	NM_004496.3	NP_004487.2	P55317	FOXA1_HUMAN	forkhead box A1	266					anatomical structure formation involved in morphogenesis (GO:0048646)|chromatin remodeling (GO:0006338)|dorsal/ventral neural tube patterning (GO:0021904)|epithelial cell maturation involved in prostate gland development (GO:0060743)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|epithelial-mesenchymal signaling involved in prostate gland development (GO:0060738)|glucose homeostasis (GO:0042593)|hormone metabolic process (GO:0042445)|lung epithelial cell differentiation (GO:0060487)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron fate specification (GO:0048665)|positive regulation of cell-cell adhesion mediated by cadherin (GO:2000049)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prostate gland epithelium morphogenesis (GO:0060740)|prostate gland stromal morphogenesis (GO:0060741)|response to estradiol (GO:0032355)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)	microvillus (GO:0005902)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|endometrium(1)|large_intestine(2)|lung(3)|prostate(12)	19	Breast(36;0.0954)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		Lung(238;5.41e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0454)|LUSC - Lung squamous cell carcinoma(13;0.0917)|all cancers(34;0.0925)|BRCA - Breast invasive adenocarcinoma(188;0.239)	GBM - Glioblastoma multiforme(112;0.0222)		TCTCGCACTTGAAGCGCTTCT	0.726																																						ENST00000250448.2																			0				breast(1)|endometrium(1)|large_intestine(2)|lung(3)|prostate(12)	19						c.(796-798)ttC>ttA		forkhead box A1							9	11	10					14																	38061191		2191	4275	6466	SO:0001583	missense	3169				chromatin remodeling|embryo development|epithelial cell maturation involved in prostate gland development|epithelial tube branching involved in lung morphogenesis|epithelial-mesenchymal signaling involved in prostate gland development|glucose homeostasis|lung epithelial cell differentiation|negative regulation of survival gene product expression|neuron fate specification|pattern specification process|positive regulation of estrogen receptor signaling pathway|positive regulation of mitotic cell cycle|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|prostate gland epithelium morphogenesis|prostate gland stromal morphogenesis|response to estradiol stimulus|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development	transcription factor complex	DNA bending activity|double-stranded DNA binding|protein domain specific binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding	g.chr14:38061191G>T	U39840	CCDS9665.1	14q12-q13	2008-04-10		2002-09-20	ENSG00000129514	ENSG00000129514		"Forkhead boxes"	5021	protein-coding gene	gene with protein product		602294	"hepatocyte nuclear factor 3, alpha"	HNF3A		9119385, 8652662	Standard	NM_004496		Approved		uc001wuf.4	P55317	OTTHUMG00000140253	ENST00000250448.2:c.798C>A	14.37:g.38061191G>T	ENSP00000250448:p.Phe266Leu					FOXA1_ENST00000545425.2_5'UTR|FOXA1_ENST00000540786.1_Missense_Mutation_p.F233L	p.F266L	NM_004496.3	NP_004487.2	P55317	FOXA1_HUMAN	Lung(238;5.41e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0454)|LUSC - Lung squamous cell carcinoma(13;0.0917)|all cancers(34;0.0925)|BRCA - Breast invasive adenocarcinoma(188;0.239)	GBM - Glioblastoma multiforme(112;0.0222)	2	859	-	Breast(36;0.0954)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		266					B2R9H6|B7ZAP5|Q9H2A0	Missense_Mutation	SNP	ENST00000250448.2	37	c.798C>A	CCDS9665.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.269078	0.80469	.	.	ENSG00000129514	ENST00000250448;ENST00000540786	D;D	0.93488	-3.22;-3.23	3.92	2.99	0.34606	.	0.000000	0.85682	D	0.000000	D	0.92743	0.7693	L	0.29908	0.895	0.80722	D	1	D	0.89917	1.0	D	0.76575	0.988	D	0.91888	0.5521	10	0.87932	D	0	.	7.7178	0.28715	0.2058:0.0:0.7942:0.0	.	266	P55317	FOXA1_HUMAN	L	266;233	ENSP00000250448:F266L;ENSP00000440178:F233L	ENSP00000250448:F266L	F	-	3	2	FOXA1	37130942	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	3.833000	0.55790	2.029000	0.59856	0.400000	0.26472	TTC		0.726	FOXA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276735.1			3	8	1	0	0.115264	1	0.119171	3	8					T	38061191	G	T	38061191	3	4	388	1	0	0	0	0	1	0	0	0	5989	1281	45	5	624	5	FOXA1	14	38061191	Missense_Mutation	SNP	G	TCGA-V1-A9OQ-01A-11D-A41K-08		38061191	69288349	48	19078											
PPP4R4	57718	broad.mit.edu	37	chr14	94674828	94674828	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caagatgtccaaggaacaagTgtgattgcaaatctcccatt	14	10	8	9	0	1	2	0	1	1	1	3	3	2	3	2	1	2	1	2	1	5	2			TCGA-V1-A9OQ-01A-11D-A41K-08	TCGA-V1-A9OQ-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b85059c-7e9e-4d42-a942-12cd919eea93	286b7dd0-24eb-48eb-b0f0-f9171d52b85a	g.chr14:94674828T>G	ENST00000304338.3	+	3	373	c.219T>G	c.(217-219)agT>agG	p.S73R	PPP4R4_ENST00000555690.1_3'UTR|PPP4R4_ENST00000328839.3_Missense_Mutation_p.S73R	NM_058237.1	NP_478144.1	Q6NUP7	PP4R4_HUMAN	protein phosphatase 4, regulatory subunit 4	73					negative regulation of phosphoprotein phosphatase activity (GO:0032515)|regulation of protein serine/threonine phosphatase activity (GO:0080163)	cytoplasm (GO:0005737)|protein serine/threonine phosphatase complex (GO:0008287)	protein phosphatase regulator activity (GO:0019888)			NS(1)|breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(15)|lung(10)|skin(7)|upper_aerodigestive_tract(2)	40						AAGGAACAAGTGTGATTGCAA	0.368																																						ENST00000304338.3																			0				NS(1)|breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(15)|lung(10)|skin(7)|upper_aerodigestive_tract(2)	40						c.(217-219)agT>agG		protein phosphatase 4, regulatory subunit 4							87	84	85					14																	94674828		2203	4300	6503	SO:0001583	missense	57718					cytoplasm|protein serine/threonine phosphatase complex	protein binding	g.chr14:94674828T>G	AB046842, BC068491	CCDS9921.1, CCDS9922.1	14q32.2	2014-07-18	2008-09-16	2008-09-16	ENSG00000119698	ENSG00000119698		"Serine/threonine phosphatases / Protein phosphatase 4, regulatory subunits"	23788	protein-coding gene	gene with protein product	"cilia and flagella associated protein 14"		"KIAA1622"	KIAA1622		18715871	Standard	NM_020958		Approved	PP4R4, CFAP14	uc001ycs.1	Q6NUP7		ENST00000304338.3:c.219T>G	14.37:g.94674828T>G	ENSP00000305924:p.Ser73Arg					PPP4R4_ENST00000555690.1_3'UTR|PPP4R4_ENST00000328839.3_Missense_Mutation_p.S73R	p.S73R	NM_058237.1	NP_478144.1	Q6NUP7	PP4R4_HUMAN			3	373	+			73					Q9BUF8|Q9HCF0	Missense_Mutation	SNP	ENST00000304338.3	37	c.219T>G	CCDS9921.1	.	.	.	.	.	.	.	.	.	.	T	20.0	3.931340	0.73442	.	.	ENSG00000119698	ENST00000304338;ENST00000328839	.	.	.	5.51	1.73	0.24493	Armadillo-like helical (1);Armadillo-type fold (1);	0.086468	0.85682	D	0.000000	T	0.71074	0.3297	M	0.77103	2.36	0.36510	D	0.86952	D;D	0.89917	1.0;0.983	D;P	0.79108	0.992;0.731	T	0.74259	-0.3723	9	0.87932	D	0	-12.7804	7.6837	0.28528	0.0:0.2728:0.0:0.7272	.	73;73	Q6NUP7;Q6NUP7-2	PP4R4_HUMAN;.	R	73	.	ENSP00000305924:S73R	S	+	3	2	PPP4R4	93744581	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	0.965000	0.29319	0.337000	0.23665	0.402000	0.26972	AGT		0.368	PPP4R4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413056.1	NM_058237		4	17	0	0	0	1	0	4	17					G	94674828	T	G	94674828	3	3	388	1	0	0	0	0	1	0	0	0	12405	1693	59	5	229	5	PPP4R4	14	94674828	Missense_Mutation	SNP	T	TCGA-V1-A9OQ-01A-11D-A41K-08	56613637	94674828	12674712	49	19079											
ZNF48	197407	broad.mit.edu	37	chr16	30410427	30410427	+	Nonstop_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcagcaacaggactggaatGacgcggtccagggagggcgg	10	3	19	9	3	0	1	0	1	0	0	1	4	1	4	1	7	2	2	1	7	2	0			TCGA-V1-A9OQ-01A-11D-A41K-08	TCGA-V1-A9OQ-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b85059c-7e9e-4d42-a942-12cd919eea93	286b7dd0-24eb-48eb-b0f0-f9171d52b85a	g.chr16:30410427G>T	ENST00000320159.2	+	2	2232	c.1856G>T	c.(1855-1857)tGa>tTa	p.*619L		NM_001214906.1|NM_001214907.1|NM_001214909.1|NM_152652.2	NP_001201835.1|NP_001201836.1|NP_001201838.1|NP_689865.2	Q96MX3	ZNF48_HUMAN	zinc finger protein 48	0					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(11)|ovary(2)|pancreas(1)|skin(1)	21						GGACTGGAATGACGCGGTCCA	0.642																																						ENST00000320159.2																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(11)|ovary(2)|pancreas(1)|skin(1)	21						c.(1855-1857)tGa>tTa		zinc finger protein 48							46	47	47					16																	30410427		2197	4300	6497	SO:0001578	stop_lost	197407				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:30410427G>T	M88358, AK056313	CCDS10679.1, CCDS73868.1	16p11.2	2013-01-08			ENSG00000180035	ENSG00000180035		"Zinc fingers, C2H2-type"	13114	protein-coding gene	gene with protein product			"zinc finger protein 553"	ZNF553		1505991	Standard	NM_152652		Approved	DKFZp762K013, FLJ31751, MGC43952	uc021tgi.1	Q96MX3	OTTHUMG00000048195	ENST00000320159.2:c.1856G>T	16.37:g.30410427G>T	ENSP00000324056:p.*619Leuext*19						p.*619L	NM_001214906.1|NM_001214907.1|NM_001214909.1|NM_152652.2	NP_001201835.1|NP_001201836.1|NP_001201838.1|NP_689865.2	Q96MX3	ZNF48_HUMAN			2	2232	+			0					Q15920|Q4G0R3|Q69YP3|Q96IL9	Nonstop_Mutation	SNP	ENST00000320159.2	37	c.1856G>T	CCDS10679.1	.	.	.	.	.	.	.	.	.	.	G	0.736	-0.778217	0.02929	.	.	ENSG00000180035	ENST00000495929;ENST00000320159	.	.	.	4.61	1.54	0.23209	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.7391	0.23424	0.2997:0.0:0.7003:0.0	.	.	.	.	L	744;619	.	.	X	+	2	2	ZNF48	30317928	0.000000	0.05858	0.892000	0.35008	0.224000	0.24922	0.378000	0.20569	0.276000	0.22118	0.563000	0.77884	TGA		0.642	ZNF48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255549.2	NM_152652		4	28	1	0	0.150653	1	0.153164	4	28					T	30410427	G	T	30410427	4	4	388	1	0	0	0	0	0	0	0	0	17931	1285	45	5	1862	5	ZNF48	16	30410427	Nonstop_Mutation	SNP	G	TCGA-V1-A9OQ-01A-11D-A41K-08		30410427	59944326	50	19080											
DBF4B	80174	broad.mit.edu	37	chr17	42828594	42828594	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cctcagccatttctccattgCggcttcctggctgtagactc	5	13	8	15	1	2	1	1	0	1	1	5	1	3	1	4	2	2	3	4	2	1	4	rs368247640		TCGA-V1-A9OQ-01A-11D-A41K-08	TCGA-V1-A9OQ-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b85059c-7e9e-4d42-a942-12cd919eea93	286b7dd0-24eb-48eb-b0f0-f9171d52b85a	g.chr17:42828594C>T	ENST00000315005.3	+	14	1959	c.1821C>T	c.(1819-1821)tgC>tgT	p.C607C	DBF4B_ENST00000393547.2_Intron	NM_145663.2	NP_663696.1	Q8NFT6	DBF4B_HUMAN	DBF4 zinc finger B	607					cell cycle (GO:0007049)|positive regulation of cell proliferation (GO:0008284)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of protein kinase activity (GO:0045860)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|protein kinase activator activity (GO:0030295)|protein kinase binding (GO:0019901)|zinc ion binding (GO:0008270)			kidney(1)|large_intestine(1)|lung(5)	7		Prostate(33;0.0322)				TTCTCCATTGCGGCTTCCTGG	0.542																																						ENST00000315005.3																			0				kidney(1)|large_intestine(1)|lung(5)	7						c.(1819-1821)tgC>tgT		DBF4 homolog B (S. cerevisiae)		C	,	0,4406		0,0,2203	49	49	49		,1821	-3	0	17		49	1,8599	1.2+/-3.3	0,1,4299	no	intron,coding-synonymous	DBF4B	NM_025104.3,NM_145663.2	,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,	,607/616	42828594	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	80174				cell cycle	nucleus	nucleic acid binding|zinc ion binding	g.chr17:42828594C>T	AF465820	CCDS11485.1, CCDS45706.1, CCDS45706.2	17q21.31	2014-02-17	2014-02-17		ENSG00000161692	ENSG00000161692		"Zinc fingers, DBF-type"	17883	protein-coding gene	gene with protein product	"chiffon homolog B (Drosophila)", "zinc finger, DBF-type containing 1B"	611661	"DBF4 homolog B (S. cerevisiae)"			15668232	Standard	NM_145663		Approved	FLJ13087, DRF1, ASKL1, chifb, ZDBF1B	uc002ihf.3	Q8NFT6	OTTHUMG00000165717	ENST00000315005.3:c.1821C>T	17.37:g.42828594C>T						DBF4B_ENST00000393547.2_Intron	p.C607C	NM_145663.2	NP_663696.1	Q8NFT6	DBF4B_HUMAN			14	1959	+		Prostate(33;0.0322)	607					D3DX56|Q8TEX0|Q96B19|Q9H912	Silent	SNP	ENST00000315005.3	37	c.1821C>T	CCDS11485.1																																																																																				0.542	DBF4B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000385930.1	NM_025104		5	46	0	0	0	1	0	5	46					T	42828594	C	T	42828594	2	4	388	1	0	0	0	0	0	0	0	1	4249	776	27	1		1	DBF4B	17	42828594	Silent	SNP	C	TCGA-V1-A9OQ-01A-11D-A41K-08		42828594	38366616	51	19081											
OR7D2	162998	broad.mit.edu	37	chr19	9296635	9296635	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cccacctccacacccccatgTacttcttcctctccaacctg	7	10	2	22	0	2	0	0	0	2	0	5	0	4	0	8	0	2	1	8	0	2	3			TCGA-V1-A9OQ-01A-11D-A41K-08	TCGA-V1-A9OQ-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b85059c-7e9e-4d42-a942-12cd919eea93	286b7dd0-24eb-48eb-b0f0-f9171d52b85a	g.chr19:9296635T>A	ENST00000344248.2	+	1	357	c.178T>A	c.(178-180)Tac>Aac	p.Y60N		NM_175883.2	NP_787079.1	Q96RA2	OR7D2_HUMAN	olfactory receptor, family 7, subfamily D, member 2	60					regulation of transcription, DNA-templated (GO:0006355)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|upper_aerodigestive_tract(2)	20						CACCCCCATGTACTTCTTCCT	0.537																																						ENST00000344248.2																			0				breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|upper_aerodigestive_tract(2)	20						c.(178-180)Tac>Aac		olfactory receptor, family 7, subfamily D, member 2							108	101	103					19																	9296635		2203	4300	6503	SO:0001583	missense	162998				regulation of transcription, DNA-dependent|sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr19:9296635T>A	AK095468	CCDS32900.1	19p13.2	2012-08-09						"GPCR / Class A : Olfactory receptors"	8378	protein-coding gene	gene with protein product							Standard	NM_175883		Approved	OR19-4, HTPCRH03, FLJ38149	uc002mkz.1	Q96RA2		ENST00000344248.2:c.178T>A	19.37:g.9296635T>A	ENSP00000345563:p.Tyr60Asn						p.Y60N	NM_175883.2	NP_787079.1	Q96RA2	OR7D2_HUMAN			1	357	+			60					Q6IFJ7|Q8N133	Missense_Mutation	SNP	ENST00000344248.2	37	c.178T>A	CCDS32900.1	.	.	.	.	.	.	.	.	.	.	T	16.12	3.033767	0.54896	.	.	ENSG00000188000	ENST00000344248	T	0.11821	2.74	2.21	2.21	0.28008	GPCR, rhodopsin-like superfamily (1);	0.000000	0.36338	U	0.002659	T	0.50939	0.1645	H	0.99379	4.54	0.31999	N	0.603628	D	0.76494	0.999	D	0.79108	0.992	T	0.65356	-0.6188	10	0.87932	D	0	.	6.8707	0.24119	0.0:0.0:0.2342:0.7658	.	60	Q96RA2	OR7D2_HUMAN	N	60	ENSP00000345563:Y60N	ENSP00000345563:Y60N	Y	+	1	0	OR7D2	9157635	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	4.930000	0.63462	1.296000	0.44742	0.418000	0.28097	TAC		0.537	OR7D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449002.1			33	51	0	0	0	1	0	33	51					A	9296635	T	A	9296635	3	1	388	1	0	0	0	0	1	0	0	0	11219	1638	57	5	180	5	OR7D2	19	9296635	Missense_Mutation	SNP	T	TCGA-V1-A9OQ-01A-11D-A41K-08		9296635	49832348	52	19082											
ZNF653	115950	broad.mit.edu	37	chr19	11596494	11596494	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aatggatgatcatgtgccgcCgcaggtggttggataaatag	11	10	14	6	2	1	1	1	1	0	0	1	3	1	3	2	4	1	2	2	4	4	3			TCGA-V1-A9OQ-01A-11D-A41K-08	TCGA-V1-A9OQ-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b85059c-7e9e-4d42-a942-12cd919eea93	286b7dd0-24eb-48eb-b0f0-f9171d52b85a	g.chr19:11596494C>T	ENST00000293771.5	-	7	1683	c.1547G>A	c.(1546-1548)cGg>cAg	p.R516Q	CTC-398G3.6_ENST00000585656.1_Intron	NM_138783.3	NP_620138.2	Q96CK0	ZN653_HUMAN	zinc finger protein 653	516					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(2)|kidney(3)|large_intestine(2)|lung(8)|prostate(1)|skin(1)	17						CATGTGCCGCCGCAGGTGGTT	0.592																																					Pancreas(83;980 1446 4542 6441 43352)	ENST00000293771.5																			0				endometrium(2)|kidney(3)|large_intestine(2)|lung(8)|prostate(1)|skin(1)	17						c.(1546-1548)cGg>cAg		zinc finger protein 653							164	144	151					19																	11596494		2203	4300	6503	SO:0001583	missense	115950				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:11596494C>T	AY072704	CCDS12261.1	19p13.2	2013-01-08						"Zinc fingers, C2H2-type"	25196	protein-coding gene	gene with protein product		611371				12477932	Standard	NM_138783		Approved	Zip67	uc002mrz.2	Q96CK0		ENST00000293771.5:c.1547G>A	19.37:g.11596494C>T	ENSP00000293771:p.Arg516Gln					CTC-398G3.6_ENST00000585656.1_Intron	p.R516Q	NM_138783.3	NP_620138.2	Q96CK0	ZN653_HUMAN			7	1683	-			516					Q96AS7	Missense_Mutation	SNP	ENST00000293771.5	37	c.1547G>A	CCDS12261.1	.	.	.	.	.	.	.	.	.	.	C	23.8	4.455365	0.84209	.	.	ENSG00000161914	ENST00000293771	T	0.20598	2.06	4.84	4.84	0.62591	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.067138	0.64402	D	0.000013	T	0.34135	0.0887	L	0.33137	0.985	0.40885	D	0.984026	D	0.67145	0.996	D	0.62955	0.909	T	0.11299	-1.0593	10	0.59425	D	0.04	-29.0679	17.1129	0.86680	0.0:1.0:0.0:0.0	.	516	Q96CK0	ZN653_HUMAN	Q	516	ENSP00000293771:R516Q	ENSP00000293771:R516Q	R	-	2	0	ZNF653	11457494	0.995000	0.38212	1.000000	0.80357	0.998000	0.95712	2.601000	0.46249	2.415000	0.81967	0.561000	0.74099	CGG		0.592	ZNF653-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458836.2	NM_138783		5	53	0	0	0	1	0	5	53					T	11596494	C	T	11596494	3	4	388	1	0	0	0	0	1	0	0	0	18063	652	23	2	312	2	ZNF653	19	11596494	Missense_Mutation	SNP	C	TCGA-V1-A9OQ-01A-11D-A41K-08	2299859	11596494	47532489	53	19083											
NAPSA	9476	broad.mit.edu	37	chr19	50862276	50862276	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atggccacctacctggatgaCgtaatcatgggccgtgaggt	9	9	13	10	2	1	2	1	2	0	0	1	3	1	3	4	4	1	1	4	4	2	2			TCGA-V1-A9OQ-01A-11D-A41K-08	TCGA-V1-A9OQ-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b85059c-7e9e-4d42-a942-12cd919eea93	286b7dd0-24eb-48eb-b0f0-f9171d52b85a	g.chr19:50862276C>T	ENST00000253719.2	-	8	1235	c.1027G>A	c.(1027-1029)Gtc>Atc	p.V343I	NR1H2_ENST00000600978.1_Intron|NR1H2_ENST00000542413.1_Intron	NM_004851.1	NP_004842.1	O96009	NAPSA_HUMAN	napsin A aspartic peptidase	343					membrane protein proteolysis (GO:0033619)|proteolysis (GO:0006508)|surfactant homeostasis (GO:0043129)	alveolar lamellar body (GO:0097208)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	aspartic-type endopeptidase activity (GO:0004190)|endopeptidase activity (GO:0004175)|peptidase activity (GO:0008233)	p.V343I(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|skin(3)	12		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00743)|GBM - Glioblastoma multiforme(134;0.0183)		ACCTGGATGACGTAATCATGG	0.557																																						ENST00000253719.2																			1	Substitution - Missense(1)	p.V343I(1)	kidney(1)	breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|skin(3)	12						c.(1027-1029)Gtc>Atc		napsin A aspartic peptidase							94	91	92					19																	50862276		2203	4300	6503	SO:0001583	missense	9476				proteolysis	extracellular region	aspartic-type endopeptidase activity	g.chr19:50862276C>T	AF090386	CCDS12794.1	19q13.33	2011-08-25				ENSG00000131400			13395	protein-coding gene	gene with protein product	"kidney-derived aspartic protease-like protein"	605631					Standard	NM_004851		Approved	NAP1, NAPA, Kdap, KAP	uc002prx.3	O96009		ENST00000253719.2:c.1027G>A	19.37:g.50862276C>T	ENSP00000253719:p.Val343Ile					NR1H2_ENST00000600978.1_Intron|NR1H2_ENST00000542413.1_Intron	p.V343I	NM_004851.1	NP_004842.1	O96009	NAPSA_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00743)|GBM - Glioblastoma multiforme(134;0.0183)	8	1235	-		all_neural(266;0.057)	343					Q8WWD9	Missense_Mutation	SNP	ENST00000253719.2	37	c.1027G>A	CCDS12794.1	.	.	.	.	.	.	.	.	.	.	C	10.10	1.258115	0.23051	.	.	ENSG00000131400	ENST00000253719	T	0.59638	0.25	3.48	3.48	0.39840	Peptidase aspartic (1);Peptidase aspartic, catalytic (1);	0.268585	0.35870	N	0.002932	T	0.54287	0.1849	N	0.21282	0.65	0.44221	D	0.997051	D	0.76494	0.999	D	0.81914	0.995	T	0.50311	-0.8843	10	0.11794	T	0.64	.	7.083	0.25241	0.0:0.867:0.0:0.133	.	343	O96009	NAPSA_HUMAN	I	343	ENSP00000253719:V343I	ENSP00000253719:V343I	V	-	1	0	NAPSA	55554088	0.954000	0.32549	1.000000	0.80357	0.265000	0.26407	1.492000	0.35594	1.649000	0.50652	0.313000	0.20887	GTC		0.557	NAPSA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464714.1	NM_004851		4	49	0	0	0	1	0	4	49					T	50862276	C	T	50862276	3	4	388	1	0	0	0	0	1	0	0	0	10166	536	19	1	243	1	NAPSA	19	50862276	Missense_Mutation	SNP	C	TCGA-V1-A9OQ-01A-11D-A41K-08	39265782	50862276	8266707	54	19084											
TGM6	343641	broad.mit.edu	37	chr20	2381056	2381056	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatacgtggactccttcgggCggaccctggaggacctgaca	9	7	13	12	3	0	1	0	1	0	0	2	5	1	5	3	5	1	0	3	5	2	2	rs572902669		TCGA-V1-A9OQ-01A-11D-A41K-08	TCGA-V1-A9OQ-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b85059c-7e9e-4d42-a942-12cd919eea93	286b7dd0-24eb-48eb-b0f0-f9171d52b85a	g.chr20:2381056C>T	ENST00000202625.2	+	7	1016	c.955C>T	c.(955-957)Cgg>Tgg	p.R319W	TGM6_ENST00000381423.1_Missense_Mutation_p.R319W|TGM6_ENST00000477505.1_3'UTR	NM_198994.2	NP_945345.2	O95932	TGM3L_HUMAN	transglutaminase 6	319					cell death (GO:0008219)|peptide cross-linking (GO:0018149)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)			breast(1)|endometrium(6)|kidney(2)|large_intestine(2)|lung(32)|ovary(4)|prostate(1)|skin(4)	52					L-Glutamine(DB00130)	CTCCTTCGGGCGGACCCTGGA	0.617																																						ENST00000202625.2																			0				breast(1)|endometrium(6)|kidney(2)|large_intestine(2)|lung(32)|ovary(4)|prostate(1)|skin(4)	52						c.(955-957)Cgg>Tgg		transglutaminase 6	L-Glutamine(DB00130)						109	96	100					20																	2381056		2203	4300	6503	SO:0001583	missense	343641				cell death|peptide cross-linking		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity	g.chr20:2381056C>T	AF540970	CCDS13025.1, CCDS58761.1	20p13	2010-12-19	2004-07-05	2004-07-07	ENSG00000166948	ENSG00000166948		"Transglutaminases"	16255	protein-coding gene	gene with protein product	"spinocerebellar ataxia 35"	613900	"transglutaminase 3-like"	TGM3L		11390390, 21106500	Standard	NM_198994		Approved	dJ734P14.3, TGY, SCA35	uc002wfy.1	O95932	OTTHUMG00000031692	ENST00000202625.2:c.955C>T	20.37:g.2381056C>T	ENSP00000202625:p.Arg319Trp					TGM6_ENST00000381423.1_Missense_Mutation_p.R319W|TGM6_ENST00000477505.1_3'UTR	p.R319W	NM_198994.2	NP_945345.2	O95932	TGM3L_HUMAN			7	1016	+			319					Q5JXU4|Q5JXU5|Q719M2|Q719M3|Q9Y4U8	Missense_Mutation	SNP	ENST00000202625.2	37	c.955C>T	CCDS13025.1	.	.	.	.	.	.	.	.	.	.	C	18.85	3.712286	0.68730	.	.	ENSG00000166948	ENST00000202625;ENST00000381423	D;D	0.95588	-3.75;-3.75	4.4	1.11	0.20524	Transglutaminase-like (2);	0.307457	0.33691	N	0.004641	D	0.95629	0.8579	M	0.68952	2.095	0.30884	N	0.731155	D;D	0.89917	1.0;1.0	D;D	0.76575	0.978;0.988	D	0.91002	0.4843	10	0.87932	D	0	-9.1266	1.5033	0.02481	0.1667:0.4752:0.1623:0.1957	.	319;319	O95932-2;O95932	.;TGM3L_HUMAN	W	319	ENSP00000202625:R319W;ENSP00000370831:R319W	ENSP00000202625:R319W	R	+	1	2	TGM6	2329056	0.109000	0.22037	1.000000	0.80357	0.995000	0.86356	0.570000	0.23653	0.603000	0.29913	0.561000	0.74099	CGG		0.617	TGM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077581.2	NM_198994		6	48	0	0	0	1	0	6	48					T	2381056	C	T	2381056	3	4	388	1	0	0	0	0	1	0	0	0	15831	759	27	1	981	1	TGM6	20	2381056	Missense_Mutation	SNP	C	TCGA-V1-A9OQ-01A-11D-A41K-08		2381056	60644464	55	19085											
NINL	22981	broad.mit.edu	37	chr20	25456887	25456887	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctctcctggcaacctccaCactgtgcttgtgacacccag	7	9	7	18	0	1	1	0	1	1	0	3	1	2	1	5	1	2	2	5	1	1	1	rs563958229		TCGA-V1-A9OQ-01A-11D-A41K-08	TCGA-V1-A9OQ-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b85059c-7e9e-4d42-a942-12cd919eea93	286b7dd0-24eb-48eb-b0f0-f9171d52b85a	g.chr20:25456887C>A	ENST00000278886.6	-	17	3113	c.3040G>T	c.(3040-3042)Gtg>Ttg	p.V1014L	NINL_ENST00000422516.1_Intron	NM_025176.4	NP_079452.3	Q9Y2I6	NINL_HUMAN	ninein-like	1014					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	cytosol (GO:0005829)|microtubule (GO:0005874)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(13)|lung(25)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	57						GCAACCTCCACACTGTGCTTG	0.687																																						ENST00000278886.6																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(13)|lung(25)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	57						c.(3040-3042)Gtg>Ttg		ninein-like							59	63	61					20																	25456887		2203	4300	6503	SO:0001583	missense	22981				G2/M transition of mitotic cell cycle	cytosol|microtubule|microtubule organizing center	calcium ion binding	g.chr20:25456887C>A		CCDS33452.1	20p11.22-p11.1	2013-01-10			ENSG00000101004	ENSG00000101004		"EF-hand domain containing"	29163	protein-coding gene	gene with protein product	"ninein-like protein"	609580				10231032	Standard	XM_005260678		Approved	KIAA0980, NLP	uc002wux.1	Q9Y2I6	OTTHUMG00000032127	ENST00000278886.6:c.3040G>T	20.37:g.25456887C>A	ENSP00000278886:p.Val1014Leu					NINL_ENST00000422516.1_Intron	p.V1014L	NM_025176.4	NP_079452.3	Q9Y2I6	NINL_HUMAN			17	3113	-			1014					A6NJN0|B3V9H6|B7Z1V8|Q5JYP0|Q8NE38|Q9NQE3	Missense_Mutation	SNP	ENST00000278886.6	37	c.3040G>T	CCDS33452.1	.	.	.	.	.	.	.	.	.	.	C	1.343	-0.593535	0.03771	.	.	ENSG00000101004	ENST00000278886	T	0.05786	3.39	0.235	0.235	0.15431	.	12.145900	0.00166	N	0.000000	T	0.05090	0.0136	N	0.19112	0.55	0.09310	N	1	B	0.14438	0.01	B	0.09377	0.004	T	0.36432	-0.9748	9	0.28530	T	0.3	4.3717	.	.	.	.	1014	Q9Y2I6	NINL_HUMAN	L	1014	ENSP00000278886:V1014L	ENSP00000278886:V1014L	V	-	1	0	NINL	25404887	0.000000	0.05858	0.002000	0.10522	0.022000	0.10575	-1.677000	0.01944	0.308000	0.22923	0.313000	0.20887	GTG		0.687	NINL-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078445.3	NM_025176		5	69	1	0	1.23904e-05	1	1.32599e-05	5	69					A	25456887	C	A	25456887	3	1	388	1	0	0	0	0	1	0	0	0	10420	478	17	5	1140	5	NINL	20	25456887	Missense_Mutation	SNP	C	TCGA-V1-A9OQ-01A-11D-A41K-08	23075831	25456887	37568633	56	19086											
RPN2	6185	broad.mit.edu	37	chr20	35833198	35833198	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tgctcgcctggatgaactcgGgggcgtgtatctccagtttg	5	12	14	10	3	1	1	0	1	1	0	4	2	1	2	2	3	2	3	2	3	2	2			TCGA-V1-A9OQ-01A-11D-A41K-08	TCGA-V1-A9OQ-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b85059c-7e9e-4d42-a942-12cd919eea93	286b7dd0-24eb-48eb-b0f0-f9171d52b85a	g.chr20:35833198G>A	ENST00000237530.6	+	6	895	c.584G>A	c.(583-585)gGg>gAg	p.G195E	RPN2_ENST00000373622.5_Missense_Mutation_p.G163E	NM_002951.3	NP_002942.2	P04844	RPN2_HUMAN	ribophorin II	195					aging (GO:0007568)|cellular protein metabolic process (GO:0044267)|cellular protein modification process (GO:0006464)|gene expression (GO:0010467)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|response to drug (GO:0042493)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	autophagic vacuole membrane (GO:0000421)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)|oligosaccharyltransferase complex (GO:0008250)|rough endoplasmic reticulum (GO:0005791)	ribosome binding (GO:0043022)|transferase activity, transferring glycosyl groups (GO:0016757)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|skin(2)|stomach(1)	24		Myeloproliferative disorder(115;0.00878)				GATGAACTCGGGGGCGTGTAT	0.483																																						ENST00000237530.6																			0				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|skin(2)|stomach(1)	24						c.(583-585)gGg>gAg		ribophorin II							145	140	142					20																	35833198		2203	4300	6503	SO:0001583	missense	6185				post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|nucleus|oligosaccharyltransferase complex	dolichyl-diphosphooligosaccharide-protein glycotransferase activity|protein binding	g.chr20:35833198G>A	Y00282	CCDS13291.1, CCDS46599.1	20q12-q13.1	2013-03-06			ENSG00000118705	ENSG00000118705			10382	protein-coding gene	gene with protein product	"oligosaccharyltransferase complex subunit (non-catalytic)"	180490					Standard	NM_002951		Approved	SWP1, RPNII, RIBIIR, RPN-II	uc002xgp.3	P04844	OTTHUMG00000032409	ENST00000237530.6:c.584G>A	20.37:g.35833198G>A	ENSP00000237530:p.Gly195Glu					RPN2_ENST00000373622.5_Missense_Mutation_p.G163E	p.G195E	NM_002951.3	NP_002942.2	P04844	RPN2_HUMAN			6	895	+		Myeloproliferative disorder(115;0.00878)	195					Q5JYR6|Q6IBA5|Q96E21|Q9BUQ3|Q9UBE1	Missense_Mutation	SNP	ENST00000237530.6	37	c.584G>A	CCDS13291.1	.	.	.	.	.	.	.	.	.	.	G	25.5	4.640926	0.87859	.	.	ENSG00000118705	ENST00000456102;ENST00000237530;ENST00000373622;ENST00000373632;ENST00000338768	T;T;T;T	0.42131	0.98;0.98;0.98;0.98	5.4	5.4	0.78164	.	0.000000	0.85682	D	0.000000	T	0.60117	0.2244	M	0.66939	2.045	0.58432	D	0.999999	D;D;D;D	0.89917	1.0;1.0;0.999;0.996	D;D;D;D	0.75484	0.986;0.981;0.981;0.934	T	0.51624	-0.8682	10	0.12430	T	0.62	-14.8384	16.7195	0.85406	0.0:0.0:1.0:0.0	.	70;163;195;195	A6NKT1;Q5JYR6;P04844;B2RE46	.;.;RPN2_HUMAN;.	E	38;195;163;211;211	ENSP00000399137:G38E;ENSP00000237530:G195E;ENSP00000362724:G163E;ENSP00000362735:G211E	ENSP00000237530:G195E	G	+	2	0	RPN2	35266612	1.000000	0.71417	1.000000	0.80357	0.882000	0.50991	8.911000	0.92721	2.814000	0.96858	0.563000	0.77884	GGG		0.483	RPN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079076.2	NM_002951		6	111	0	0	0	1	0	6	111					A	35833198	G	A	35833198	3	1	388	1	0	0	0	0	1	0	0	0	13608	1232	43	3	606	3	RPN2	20	35833198	Missense_Mutation	SNP	G	TCGA-V1-A9OQ-01A-11D-A41K-08	10376311	35833198	27192322	57	19087											
LSS	4047	broad.mit.edu	37	chr21	47641788	47641788	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttcttgtgaagaatgttcCgggctcgtaccaggtcagga	8	12	12	9	2	2	2	1	1	1	1	4	3	3	3	2	3	1	3	2	3	3	4	rs142081800		TCGA-V1-A9OQ-01A-11D-A41K-08	TCGA-V1-A9OQ-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b85059c-7e9e-4d42-a942-12cd919eea93	286b7dd0-24eb-48eb-b0f0-f9171d52b85a	g.chr21:47641788C>T	ENST00000397728.3	-	5	608	c.530G>A	c.(529-531)cGg>cAg	p.R177Q	AP001469.5_ENST00000418029.1_RNA|LSS_ENST00000356396.4_Missense_Mutation_p.R177Q|LSS_ENST00000522411.1_Missense_Mutation_p.R166Q|LSS_ENST00000457828.2_Missense_Mutation_p.R97Q|LSS_ENST00000464357.1_5'UTR	NM_001145436.1|NM_002340.5	NP_001138908.1|NP_002331.3	P48449	ERG7_HUMAN	lanosterol synthase (2,3-oxidosqualene-lanosterol cyclase)	177					cholesterol biosynthetic process (GO:0006695)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)	endoplasmic reticulum membrane (GO:0005789)|lipid particle (GO:0005811)|membrane (GO:0016020)	lanosterol synthase activity (GO:0000250)			cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|skin(1)|urinary_tract(1)	21	Breast(49;0.214)					AAGAATGTTCCGGGCTCGTAC	0.517																																					Pancreas(114;955 2313 34923 50507)	ENST00000397728.3																			0				cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|skin(1)|urinary_tract(1)	21						c.(529-531)cGg>cAg		lanosterol synthase (2,3-oxidosqualene-lanosterol cyclase)		C	GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG	0,4406		0,0,2203	151	129	137		530,497,290,530	4.6	1	21	dbSNP_134	137	1,8599	1.2+/-3.3	0,1,4299	yes	missense,missense,missense,missense	LSS	NM_001001438.2,NM_001145436.1,NM_001145437.1,NM_002340.5	43,43,43,43	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging	177/733,166/722,97/653,177/733	47641788	1,13005	2203	4300	6503	SO:0001583	missense	4047				cholesterol biosynthetic process	endoplasmic reticulum membrane	lanosterol synthase activity	g.chr21:47641788C>T	U22526	CCDS13733.1, CCDS46654.1, CCDS54489.1	21q22.3	1998-05-07			ENSG00000160285	ENSG00000160285	5.4.99.7		6708	protein-coding gene	gene with protein product		600909				7639730, 8655142	Standard	NM_001001438		Approved	OSC	uc002zij.3	P48449	OTTHUMG00000090633	ENST00000397728.3:c.530G>A	21.37:g.47641788C>T	ENSP00000380837:p.Arg177Gln					AP001469.5_ENST00000418029.1_RNA|LSS_ENST00000464357.1_5'UTR|LSS_ENST00000457828.2_Missense_Mutation_p.R97Q|LSS_ENST00000522411.1_Missense_Mutation_p.R166Q|LSS_ENST00000356396.4_Missense_Mutation_p.R177Q	p.R177Q	NM_001145436.1|NM_002340.5	NP_001138908.1|NP_002331.3	P48449	ERG7_HUMAN			5	608	-	Breast(49;0.214)		177					B4DJZ9|D3DSN0|E9PEI9|G5E9Q9|Q8IYL6|Q9UEZ1	Missense_Mutation	SNP	ENST00000397728.3	37	c.530G>A	CCDS13733.1	.	.	.	.	.	.	.	.	.	.	C	32	5.181489	0.94885	0.0	1.16E-4	ENSG00000160285	ENST00000356396;ENST00000457828;ENST00000397728;ENST00000522411;ENST00000450351	T;T;T;T;T	0.64803	-0.12;-0.12;-0.12;-0.12;-0.12	4.58	4.58	0.56647	Terpenoid cylases/protein prenyltransferase alpha-alpha toroid (1);	0.000000	0.85682	D	0.000000	T	0.80914	0.4715	M	0.84219	2.685	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.997	D	0.84349	0.0531	10	0.66056	D	0.02	.	17.3189	0.87231	0.0:1.0:0.0:0.0	.	166;177	E9PEI9;P48449	.;ERG7_HUMAN	Q	177;97;177;166;178	ENSP00000348762:R177Q;ENSP00000409191:R97Q;ENSP00000380837:R177Q;ENSP00000429133:R166Q;ENSP00000391368:R178Q	ENSP00000348762:R177Q	R	-	2	0	LSS	46466216	1.000000	0.71417	0.998000	0.56505	0.568000	0.35870	7.611000	0.82962	2.261000	0.74972	0.643000	0.83706	CGG		0.517	LSS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207274.2			16	32	0	0	0	1	0	16	32					T	47641788	C	T	47641788	3	4	388	1	0	0	0	0	1	0	0	0	9065	652	23	2	1740	2	LSS	21	47641788	Missense_Mutation	SNP	C	TCGA-V1-A9OQ-01A-11D-A41K-08		47641788	488107	58	19088											
KAL1	3730	broad.mit.edu	37	chrX	8555966	8555966	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaccacttaacctccagctGtccagactgcagttctgtaa	10	10	8	13	0	1	1	0	0	1	1	3	2	3	2	4	1	3	4	4	1	2	3			TCGA-V1-A9OQ-01A-11D-A41K-08	TCGA-V1-A9OQ-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b85059c-7e9e-4d42-a942-12cd919eea93	286b7dd0-24eb-48eb-b0f0-f9171d52b85a	g.chrX:8555966G>A	ENST00000262648.3	-	5	744	c.595C>T	c.(595-597)Cag>Tag	p.Q199*		NM_000216.2	NP_000207.2	P23352	KALM_HUMAN	Kallmann syndrome 1 sequence	199	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cellular component movement (GO:0006928)|chemotaxis (GO:0006935)	extracellular space (GO:0005615)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|liver(1)|lung(6)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(1)	32						ACCTCCAGCTGTCCAGACTGC	0.423																																						ENST00000262648.3																			0				breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|liver(1)|lung(6)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(1)	32						c.(595-597)Cag>Tag		Kallmann syndrome 1 sequence							81	68	73					X																	8555966		2203	4300	6503	SO:0001587	stop_gained	3730				axon guidance|cell adhesion|cellular component movement	extracellular space|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|heparin binding|serine-type endopeptidase inhibitor activity	g.chrX:8555966G>A		CCDS14130.1	Xp22.32	2013-02-11			ENSG00000011201	ENSG00000011201		"WAP four-disulfide core domain containing", "Fibronectin type III domain containing"	6211	protein-coding gene	gene with protein product	"anosmin-1", "WAP four-disulfide core domain 19"	300836		KAL, ADMLX		11463336	Standard	NM_000216		Approved	KALIG-1, WFDC19	uc004csf.3	P23352	OTTHUMG00000021107	ENST00000262648.3:c.595C>T	X.37:g.8555966G>A	ENSP00000262648:p.Gln199*						p.Q199*	NM_000216.2	NP_000207.2	P23352	KALM_HUMAN			5	744	-			199			Fibronectin type-III 1.		B2RPF8	Nonsense_Mutation	SNP	ENST00000262648.3	37	c.595C>T	CCDS14130.1	.	.	.	.	.	.	.	.	.	.	G	34	5.360725	0.95877	.	.	ENSG00000011201	ENST00000262648	.	.	.	4.05	3.13	0.36017	.	0.433100	0.25250	N	0.032031	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.44086	T	0.13	.	12.0731	0.53628	0.0:0.319:0.681:0.0	.	.	.	.	X	199	.	ENSP00000262648:Q199X	Q	-	1	0	KAL1	8515966	1.000000	0.71417	0.447000	0.26932	0.972000	0.66771	3.241000	0.51376	1.633000	0.50488	0.600000	0.82982	CAG		0.423	KAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055692.1	NM_000216		12	5	0	0	0	1	0	12	5					A	8555966	G	A	8555966	4	1	388	1	0	0	0	0	0	1	0	0	7974	1386	48	3	1487	3	KAL1	23	8555966	Nonsense_Mutation	SNP	G	TCGA-V1-A9OQ-01A-11D-A41K-08		8555966	146714594	59	19089											
PCDH11X	27328	broad.mit.edu	37	chrX	91133932	91133932	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taaggcagatgatgttgacaGtgatggaaacagagtcacac	15	8	12	6	0	1	5	1	3	0	2	1	6	1	6	0	2	1	2	0	2	2	2			TCGA-V1-A9OQ-01A-11D-A41K-08	TCGA-V1-A9OQ-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b85059c-7e9e-4d42-a942-12cd919eea93	286b7dd0-24eb-48eb-b0f0-f9171d52b85a	g.chrX:91133932G>A	ENST00000373094.1	+	2	3538	c.2693G>A	c.(2692-2694)aGt>aAt	p.S898N	PCDH11X_ENST00000406881.1_Missense_Mutation_p.S898N|PCDH11X_ENST00000361724.1_Missense_Mutation_p.S898N|PCDH11X_ENST00000373097.1_Missense_Mutation_p.S898N|PCDH11X_ENST00000373088.1_Missense_Mutation_p.S898N|PCDH11X_ENST00000504220.2_Missense_Mutation_p.S898N|PCDH11X_ENST00000361655.2_Missense_Mutation_p.S898N|PCDH11X_ENST00000298274.8_Missense_Mutation_p.S898N|PCDH11X_ENST00000395337.2_Missense_Mutation_p.S898N	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	898					homophilic cell adhesion (GO:0007156)|negative regulation of phosphatase activity (GO:0010923)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						GATGTTGACAGTGATGGAAAC	0.378																																					NSCLC(38;925 1092 2571 38200 45895)	ENST00000373094.1																			0				NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						c.(2692-2694)aGt>aAt		protocadherin 11 X-linked							94	86	89					X																	91133932		2203	4300	6503	SO:0001583	missense	27328				homophilic cell adhesion	integral to plasma membrane	calcium ion binding	g.chrX:91133932G>A	AB026187	CCDS14461.1, CCDS14462.1, CCDS55458.1, CCDS55459.1, CCDS55460.1, CCDS55461.1	Xq21.3	2014-06-13	2002-05-22	2002-05-24	ENSG00000102290	ENSG00000102290		"Cadherins / Protocadherins : Non-clustered"	8656	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 119"	300246	"protocadherin 11"	PCDH11		10644456	Standard	NM_001168360		Approved	PCDH-X, PCDHX, PPP1R119	uc004efm.2	Q9BZA7	OTTHUMG00000021965	ENST00000373094.1:c.2693G>A	X.37:g.91133932G>A	ENSP00000362186:p.Ser898Asn					PCDH11X_ENST00000361655.2_Missense_Mutation_p.S898N|PCDH11X_ENST00000395337.2_Missense_Mutation_p.S898N|PCDH11X_ENST00000373097.1_Missense_Mutation_p.S898N|PCDH11X_ENST00000504220.1_Missense_Mutation_p.S898N|PCDH11X_ENST00000298274.8_Missense_Mutation_p.S898N|PCDH11X_ENST00000361724.1_Missense_Mutation_p.S898N|PCDH11X_ENST00000406881.1_Missense_Mutation_p.S898N|PCDH11X_ENST00000373088.1_Missense_Mutation_p.S898N	p.S898N	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN			2	3538	+			898					A6NIQ4|Q2TJH0|Q2TJH1|Q2TJH3|Q5JVZ0|Q70LR8|Q70LS7|Q70LS8|Q70LS9|Q70LT7|Q70LT8|Q70LT9|Q70LU0|Q70LU1|Q96RV4|Q96RW0|Q9BZA6|Q9H4E0|Q9P2M0|Q9P2X5	Missense_Mutation	SNP	ENST00000373094.1	37	c.2693G>A	CCDS14461.1	.	.	.	.	.	.	.	.	.	.	G	0.004	-2.284634	0.00251	.	.	ENSG00000102290	ENST00000395337;ENST00000373094;ENST00000373097;ENST00000361724;ENST00000373088;ENST00000504220;ENST00000361655;ENST00000406881;ENST00000356934;ENST00000298274	T;T;T;T;T;T;T;T;T	0.29655	1.56;1.56;1.56;1.56;1.56;1.56;1.56;1.56;1.56	5.16	2.8	0.32819	Protocadherin (1);	0.221979	0.45361	N	0.000376	T	0.05090	0.0136	N	0.00162	-1.95	0.19300	N	0.999972	B;B;B;B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0	B;B;B;B;B;B;B;B	0.01281	0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0	T	0.40683	-0.9550	10	0.02654	T	1	.	6.5188	0.22262	0.7433:0.1701:0.0866:0.0	.	898;898;898;898;898;898;898;898	Q9BZA7-6;Q9BZA7-5;Q9BZA7-4;Q9BZA7-8;Q9BZA7-3;Q9BZA7;Q9BZA7-7;Q9BZA7-2	.;.;.;.;.;PC11X_HUMAN;.;.	N	898	ENSP00000378746:S898N;ENSP00000362186:S898N;ENSP00000362189:S898N;ENSP00000355040:S898N;ENSP00000362180:S898N;ENSP00000423762:S898N;ENSP00000355105:S898N;ENSP00000384758:S898N;ENSP00000298274:S898N	ENSP00000298274:S898N	S	+	2	0	PCDH11X	91020588	1.000000	0.71417	0.998000	0.56505	0.401000	0.30781	4.602000	0.61098	0.190000	0.20209	-0.296000	0.09543	AGT		0.378	PCDH11X-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057436.1	NM_032969		21	20	0	0	0	1	0	21	20					A	91133932	G	A	91133932	3	1	388	1	0	0	0	0	1	0	0	0	11508	1029	36	3	2699	3	PCDH11X	23	91133932	Missense_Mutation	SNP	G	TCGA-V1-A9OQ-01A-11D-A41K-08	82577966	91133932	64136628	60	19090											
EYA3	2140	broad.mit.edu	37	chr1	28365380	28365380	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acatttgtgaggtataatcaTtggatgagcgagggatgtaa	13	12	13	3	1	1	2	1	2	0	0	1	5	1	4	0	3	1	2	0	3	3	5	rs371072200		TCGA-V1-A9OT-01A-11D-A41K-08	TCGA-V1-A9OT-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a578d0f-5710-413d-a40a-e75f63e7042a	9c425266-08aa-46b4-b0b1-6c33962b10da	g.chr1:28365380T>C	ENST00000373871.3	-	5	434	c.194A>G	c.(193-195)aAt>aGt	p.N65S	EYA3_ENST00000540618.1_Missense_Mutation_p.N65S|EYA3_ENST00000373864.1_Start_Codon_SNP_p.M1V|EYA3_ENST00000471498.1_5'UTR|EYA3_ENST00000545175.1_Missense_Mutation_p.N12S|EYA3_ENST00000373863.3_Missense_Mutation_p.N65S|EYA3_ENST00000436342.2_5'UTR	NM_001282561.1|NM_001282562.1	NP_001269490.1|NP_001269491.1	Q99504	EYA3_HUMAN	EYA transcriptional coactivator and phosphatase 3	65					anatomical structure morphogenesis (GO:0009653)|double-strand break repair (GO:0006302)|histone dephosphorylation (GO:0016576)|multicellular organismal development (GO:0007275)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of DNA repair (GO:0045739)|regulation of transcription, DNA-templated (GO:0006355)|response to ionizing radiation (GO:0010212)|transcription, DNA-templated (GO:0006351)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|metal ion binding (GO:0046872)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			breast(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	15		Colorectal(325;3.46e-05)|all_lung(284;0.000414)|Lung NSC(340;0.000432)|Renal(390;0.00121)|Breast(348;0.00345)|Ovarian(437;0.00503)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0484)|OV - Ovarian serous cystadenocarcinoma(117;1.25e-24)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;2.8e-06)|STAD - Stomach adenocarcinoma(196;0.00364)|KIRC - Kidney renal clear cell carcinoma(1967;0.00378)|BRCA - Breast invasive adenocarcinoma(304;0.00718)|READ - Rectum adenocarcinoma(331;0.0642)		GGTATAATCATTGGATGAGCG	0.303																																						ENST00000373871.3																			0				breast(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	15						c.(193-195)aAt>aGt		eyes absent homolog 3 (Drosophila)							90	90	90					1																	28365380		2203	4300	6503	SO:0001583	missense	2140				anatomical structure morphogenesis|double-strand break repair|histone dephosphorylation|multicellular organismal development|positive regulation of DNA repair|regulation of transcription, DNA-dependent|response to ionizing radiation|transcription, DNA-dependent|visual perception	cytoplasm	metal ion binding|protein binding|protein tyrosine phosphatase activity	g.chr1:28365380T>C	U81602	CCDS316.1, CCDS60050.1, CCDS60051.1, CCDS60052.1	1p36	2014-06-19	2014-06-19		ENSG00000158161	ENSG00000158161		"Protein tyrosine phosphatases / Asp-based PTPs"	3521	protein-coding gene	gene with protein product		601655	"eyes absent (Drosophila) homolog 3", "eyes absent homolog 3 (Drosophila)"			9020840	Standard	NM_001990		Approved	DKFZp686C132	uc001bpi.2	Q99504	OTTHUMG00000003916	ENST00000373871.3:c.194A>G	1.37:g.28365380T>C	ENSP00000362978:p.Asn65Ser					EYA3_ENST00000373863.3_Missense_Mutation_p.N65S|EYA3_ENST00000545175.1_Missense_Mutation_p.N12S|EYA3_ENST00000540618.1_Missense_Mutation_p.N65S|EYA3_ENST00000373864.1_Start_Codon_SNP_p.M1V|EYA3_ENST00000471498.1_5'UTR|EYA3_ENST00000436342.2_5'UTR	p.N65S			Q99504	EYA3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0484)|OV - Ovarian serous cystadenocarcinoma(117;1.25e-24)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;2.8e-06)|STAD - Stomach adenocarcinoma(196;0.00364)|KIRC - Kidney renal clear cell carcinoma(1967;0.00378)|BRCA - Breast invasive adenocarcinoma(304;0.00718)|READ - Rectum adenocarcinoma(331;0.0642)	5	434	-		Colorectal(325;3.46e-05)|all_lung(284;0.000414)|Lung NSC(340;0.000432)|Renal(390;0.00121)|Breast(348;0.00345)|Ovarian(437;0.00503)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)	65					A8K190|B4DIR7|B4DNZ7|O95463|Q8IVX7|Q99813	Missense_Mutation	SNP	ENST00000373871.3	37	c.194A>G	CCDS316.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	10.97|10.97	1.501420|1.501420	0.26861|0.26861	.|.	.|.	ENSG00000158161|ENSG00000158161	ENST00000373864|ENST00000373871;ENST00000540618;ENST00000545175;ENST00000373863	D|D;D;D;D	0.92149|0.91521	-2.98|-2.86;-2.82;-2.81;-2.72	5.11|5.11	2.76|2.76	0.32466|0.32466	.|.	.|0.401124	.|0.29638	.|N	.|0.011594	T|T	0.75413|0.75413	0.3846|0.3846	N|N	0.08118|0.08118	0|0	0.80722|0.80722	D|D	1|1	.|B;B;B	.|0.15930	.|0.008;0.015;0.008	.|B;B;B	.|0.16289	.|0.007;0.015;0.007	T|T	0.61912|0.61912	-0.6965|-0.6965	7|10	0.87932|0.07644	D|T	0|0.81	-8.8268|-8.8268	7.501|7.501	0.27518|0.27518	0.0:0.0747:0.1431:0.7822|0.0:0.0747:0.1431:0.7822	.|.	.|65;65;65	.|B4DIR7;Q8IVX7;Q99504	.|.;.;EYA3_HUMAN	V|S	1|65;65;12;65	ENSP00000362971:M1V|ENSP00000362978:N65S;ENSP00000442558:N65S;ENSP00000442280:N12S;ENSP00000362970:N65S	ENSP00000362971:M1V|ENSP00000362970:N65S	M|N	-|-	1|2	0|0	EYA3|EYA3	28237967|28237967	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	1.348000|1.348000	0.33987|0.33987	0.401000|0.401000	0.25424|0.25424	0.533000|0.533000	0.62120|0.62120	ATG|AAT		0.303	EYA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011184.1	NM_001990		20	31	0	0	0	1	0	20	31					C	28365380	T	C	28365380	3	2	389	1	0	0	0	0	1	0	0	0	5330	1493	52	4	1583	4	EYA3	1	28365380	Missense_Mutation	SNP	T	TCGA-V1-A9OT-01A-11D-A41K-08		28365380	220885241	1	19091											
CPT2	1376	broad.mit.edu	37	chr1	53679183	53679183	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtctcttcctacccaggccgCaatgcccgggagtttctcca	6	10	9	16	2	2	0	0	0	2	0	5	1	3	1	5	2	2	2	5	2	2	3			TCGA-V1-A9OT-01A-11D-A41K-08	TCGA-V1-A9OT-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a578d0f-5710-413d-a40a-e75f63e7042a	9c425266-08aa-46b4-b0b1-6c33962b10da	g.chr1:53679183C>A	ENST00000371486.3	+	5	2408	c.1893C>A	c.(1891-1893)cgC>cgA	p.R631R	RP5-1024G6.2_ENST00000452466.1_RNA|C1orf123_ENST00000470385.1_5'Flank	NM_000098.2	NP_000089.1	P23786	CPT2_HUMAN	carnitine palmitoyltransferase 2	631			R -> C (in CPT2D; early-onset hepatocardiomuscular form). {ECO:0000269|PubMed:1528846}.		carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	carnitine O-palmitoyltransferase activity (GO:0004095)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	15					L-Carnitine(DB00583)|Perhexiline(DB01074)	ACCCAGGCCGCAATGCCCGGG	0.498																																						ENST00000371486.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	15						c.(1891-1893)cgC>cgA		carnitine palmitoyltransferase 2	L-Carnitine(DB00583)|Perhexiline(DB01074)						131	116	121					1																	53679183		2203	4300	6503	SO:0001819	synonymous_variant	1376				carnitine shuttle|fatty acid beta-oxidation|regulation of fatty acid oxidation	mitochondrial inner membrane	carnitine O-palmitoyltransferase activity	g.chr1:53679183C>A	BC002445	CCDS575.1	1p32.3	2014-01-09	2009-03-04		ENSG00000157184	ENSG00000157184	2.3.1.21		2330	protein-coding gene	gene with protein product		600650	"carnitine palmitoyltransferase II"	CPT1		1339389	Standard	NM_000098		Approved	CPTASE	uc001cvb.4	P23786	OTTHUMG00000008942	ENST00000371486.3:c.1893C>A	1.37:g.53679183C>A						RP5-1024G6.2_ENST00000452466.1_RNA	p.R631R	NM_000098.2	NP_000089.1	P23786	CPT2_HUMAN			5	2408	+			631		R -> C (in CPT2D; early-onset hepatocardiomuscular form).			B2R6S0|Q5SW68|Q9BQ26	Silent	SNP	ENST00000371486.3	37	c.1893C>A	CCDS575.1																																																																																				0.498	CPT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024757.1	NM_000098		30	25	1	0	1.38854e-25	1	1.60454e-25	30	25					A	53679183	C	A	53679183	2	1	389	1	0	0	0	0	0	0	0	1	3834	697	25	5		5	CPT2	1	53679183	Silent	SNP	C	TCGA-V1-A9OT-01A-11D-A41K-08	25313803	53679183	195571438	2	19092											
MAGI3	260425	broad.mit.edu	37	chr1	114215328	114215328	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	accttgcacagcctgacaccGcagtaatttcagttgtaggc	10	10	9	12	1	1	1	1	1	0	0	1	1	1	1	3	1	2	5	3	1	2	5			TCGA-V1-A9OT-01A-11D-A41K-08	TCGA-V1-A9OT-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a578d0f-5710-413d-a40a-e75f63e7042a	9c425266-08aa-46b4-b0b1-6c33962b10da	g.chr1:114215328G>A	ENST00000307546.9	+	18	3085	c.3010G>A	c.(3010-3012)Gca>Aca	p.A1004T	MAGI3_ENST00000369617.4_Missense_Mutation_p.A1029T|MAGI3_ENST00000369611.4_Missense_Mutation_p.A1004T|MAGI3_ENST00000369615.1_Missense_Mutation_p.A1004T	NM_001142782.1	NP_001136254.1	Q5TCQ9	MAGI3_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 3	1029					apoptotic process (GO:0006915)|intracellular signal transduction (GO:0035556)|nucleotide phosphorylation (GO:0046939)|positive regulation of JUN kinase activity (GO:0043507)|viral process (GO:0016032)	membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	ATP binding (GO:0005524)|guanylate kinase activity (GO:0004385)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	41	Lung SC(450;0.184)	all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GCCTGACACCGCAGTAATTTC	0.458																																						ENST00000369615.1																			0				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	41						c.(3010-3012)Gca>Aca		membrane associated guanylate kinase, WW and PDZ domain containing 3							217	216	216					1																	114215328		2203	4300	6503	SO:0001583	missense	260425				apoptosis|interspecies interaction between organisms|intracellular signal transduction	nucleus|tight junction	ATP binding|guanylate kinase activity|protein binding	g.chr1:114215328G>A	AF213259	CCDS860.1, CCDS44196.1	1p12-p11.2	2008-02-05			ENSG00000081026	ENSG00000081026			29647	protein-coding gene	gene with protein product		615943				10997877, 10748157	Standard	NM_152900		Approved	MAGI-3	uc001edk.3	Q5TCQ9	OTTHUMG00000011737	ENST00000307546.9:c.3010G>A	1.37:g.114215328G>A	ENSP00000304604:p.Ala1004Thr					MAGI3_ENST00000369617.4_Missense_Mutation_p.A1029T|MAGI3_ENST00000307546.9_Missense_Mutation_p.A1004T|MAGI3_ENST00000369611.4_Missense_Mutation_p.A1004T	p.A1004T	NM_152900.2	NP_690864.2	Q5TCQ9	MAGI3_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	18	3072	+	Lung SC(450;0.184)	all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-05)	1029					Q5TCQ8|Q5TCR0|Q9H2V6|Q9H5Y8|Q9HBC4|Q9HCD8	Missense_Mutation	SNP	ENST00000307546.9	37	c.3010G>A	CCDS44196.1	.	.	.	.	.	.	.	.	.	.	G	5.876	0.345845	0.11126	.	.	ENSG00000081026	ENST00000369617;ENST00000307546;ENST00000369615;ENST00000369611;ENST00000546156	T;T;T;T	0.16597	2.52;2.33;2.52;2.52	5.86	4.94	0.65067	.	0.165882	0.51477	D	0.000097	T	0.03827	0.0108	N	0.16478	0.41	0.09310	N	1	B;B;B	0.17268	0.021;0.0;0.005	B;B;B	0.11329	0.006;0.0;0.004	T	0.31166	-0.9953	10	0.19147	T	0.46	-13.5001	12.3558	0.55174	0.0801:0.0:0.9199:0.0	.	1004;1004;1029	Q5TCQ9-4;Q5TCQ9-3;Q5TCQ9-2	.;.;.	T	1029;1004;1004;1004;44	ENSP00000358630:A1029T;ENSP00000304604:A1004T;ENSP00000358628:A1004T;ENSP00000358624:A1004T	ENSP00000304604:A1004T	A	+	1	0	MAGI3	114016851	0.893000	0.30496	0.069000	0.20011	0.164000	0.22412	3.285000	0.51716	2.776000	0.95493	0.650000	0.86243	GCA		0.458	MAGI3-004	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000032429.1	NM_152900		4	225	0	0	0	1	0	4	225					A	114215328	G	A	114215328	3	1	389	1	0	0	0	0	1	0	0	0	9192	1087	38	1	3080	1	MAGI3	1	114215328	Missense_Mutation	SNP	G	TCGA-V1-A9OT-01A-11D-A41K-08	60536145	114215328	135035293	3	19093											
RPTN	126638	broad.mit.edu	37	chr1	152128186	152128186	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttgtctgtctgtctgaccAtagtgggaactctggccttg	5	14	11	11	0	4	1	0	1	4	0	4	2	4	2	3	2	1	0	3	2	2	3			TCGA-V1-A9OT-01A-11D-A41K-08	TCGA-V1-A9OT-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a578d0f-5710-413d-a40a-e75f63e7042a	9c425266-08aa-46b4-b0b1-6c33962b10da	g.chr1:152128186A>G	ENST00000316073.3	-	3	1453	c.1389T>C	c.(1387-1389)taT>taC	p.Y463Y		NM_001122965.1	NP_001116437.1	Q6XPR3	RPTN_HUMAN	repetin	463	Gln-rich.					cornified envelope (GO:0001533)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						CTGTCTGACCATAGTGGGAAC	0.512																																						ENST00000316073.3																			0				breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						c.(1387-1389)taT>taC		repetin							788	697	725					1																	152128186		1568	3582	5150	SO:0001819	synonymous_variant	126638					proteinaceous extracellular matrix	calcium ion binding	g.chr1:152128186A>G	AK096436	CCDS41397.1	1q21.3	2013-01-10			ENSG00000215853	ENSG00000215853		"EF-hand domain containing"	26809	protein-coding gene	gene with protein product		613259				15854042	Standard	NM_001122965		Approved	FLJ39117	uc001ezs.1	Q6XPR3	OTTHUMG00000154095	ENST00000316073.3:c.1389T>C	1.37:g.152128186A>G							p.Y463Y	NM_001122965.1	NP_001116437.1	Q6XPR3	RPTN_HUMAN			3	1453	-			463			Gln-rich.		B7ZBZ3	Silent	SNP	ENST00000316073.3	37	c.1389T>C	CCDS41397.1																																																																																				0.512	RPTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333867.1	XM_371312		7	631	0	0	0	1	0	7	631					G	152128186	A	G	152128186	2	3	389	1	0	0	0	0	0	0	0	1	13664	224	8	4		4	RPTN	1	152128186	Silent	SNP	A	TCGA-V1-A9OT-01A-11D-A41K-08	37912858	152128186	97122435	4	19094											
ADCY3	109	broad.mit.edu	37	chr2	25064144	25064144	+	Frame_Shift_Del	DEL	T	T	-																															ttacgagatggcctccaccaTggccagccccatgaggatgg																										TCGA-V1-A9OT-01A-11D-A41K-08	TCGA-V1-A9OT-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a578d0f-5710-413d-a40a-e75f63e7042a	9c425266-08aa-46b4-b0b1-6c33962b10da	g.chr2:25064144delT	ENST00000260600.5	-	5	2031	c.1180delA	c.(1180-1182)atgfs	p.M394fs	ADCY3_ENST00000405392.1_Frame_Shift_Del_p.M5fs	NM_004036.3	NP_004027.2	O60266	ADCY3_HUMAN	adenylate cyclase 3	394					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|sensory perception of smell (GO:0007608)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cilium (GO:0005929)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)			NS(1)|breast(5)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(4)|skin(2)	44	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.203)					GCCTCCACCATGGCCAGCCCC	0.657																																						ENST00000260600.5																			0				NS(1)|breast(5)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(4)|skin(2)	44						c.(1180-1182)tgfs		adenylate cyclase 3							31	33	32					2																	25064144		2188	4286	6474	SO:0001589	frameshift_variant	109				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|sensory perception of smell|synaptic transmission|transmembrane transport|water transport	cytoplasm|integral to plasma membrane	ATP binding|calmodulin binding|metal ion binding	g.chr2:25064144delT	AF033861	CCDS1715.1	2p23.3	2013-02-04			ENSG00000138031	ENSG00000138031	4.6.1.1	"Adenylate cyclases"	234	protein-coding gene	gene with protein product		600291				9920776	Standard	NM_004036		Approved	AC3	uc002rfs.4	O60266	OTTHUMG00000094765	ENST00000260600.5:c.1180delA	2.37:g.25064144delT	ENSP00000260600:p.Met394fs					ADCY3_ENST00000405392.1_Frame_Shift_Del_p.M5fs	p.M394fs	NM_004036.3	NP_004027.2	O60266	ADCY3_HUMAN			5	2031	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.203)		394					B3KT86|Q53T54|Q9UDB1	Frame_Shift_Del	DEL	ENST00000260600.5	37	c.1180delA	CCDS1715.1																																																																																				0.657	ADCY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211574.2			2	4						2	4	---	---	---	---	-	25064144	T	-	25064144	7	5	389	1	0	1	0	1	0	0	0	0	295	1464	51	0	2322	0	ADCY3	2	25064144	Frame_Shift_Del	DEL	T	TCGA-V1-A9OT-01A-11D-A41K-08		25064144	218135229	5	19095											
ASXL2	55252	broad.mit.edu	37	chr2	25982350	25982350	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ttaaggagttcaatgacgcaCctgtcgatctacctctggga	10	11	10	10	2	3	1	1	1	2	0	4	4	3	3	2	2	1	2	2	2	3	3			TCGA-V1-A9OT-01A-11D-A41K-08	TCGA-V1-A9OT-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a578d0f-5710-413d-a40a-e75f63e7042a	9c425266-08aa-46b4-b0b1-6c33962b10da	g.chr2:25982350C>T	ENST00000435504.4	-	9	1233		c.e9+1		ASXL2_ENST00000404843.1_Splice_Site|ASXL2_ENST00000336112.4_Splice_Site|ASXL2_ENST00000272341.4_Splice_Site			Q76L83	ASXL2_HUMAN	additional sex combs like transcriptional regulator 2						adult heart development (GO:0007512)|embryonic skeletal system morphogenesis (GO:0048704)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of bone mineralization involved in bone maturation (GO:1900159)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of histone H3-K27 trimethylation (GO:1902466)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035360)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|peroxisome proliferator activated receptor binding (GO:0042975)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(3)	33	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CAATGACGCACCTGTCGATCT	0.373																																						ENST00000435504.4																			0				NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(3)	33						c.e9+1		additional sex combs like 2 (Drosophila)							157	144	148					2																	25982350		1860	4105	5965	SO:0001630	splice_region_variant	55252				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|protein binding	g.chr2:25982350C>T			2p24.1	2014-06-17	2014-06-17		ENSG00000143970	ENSG00000143970			23805	protein-coding gene	gene with protein product		612991	"additional sex combs like 2 (Drosophila)"			12888926	Standard	NM_018263		Approved	ASXH2, FLJ10898, KIAA1685	uc002rgs.2	Q76L83	OTTHUMG00000152176	ENST00000435504.4:c.939+1G>A	2.37:g.25982350C>T						ASXL2_ENST00000272341.4_Splice_Site|ASXL2_ENST00000336112.4_Splice_Site|ASXL2_ENST00000404843.1_Splice_Site				Q76L83	ASXL2_HUMAN			9	1233	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)							Q53TC9|Q5H9U4|Q76L81|Q86XM1|Q9C0H8|Q9NV67	Splice_Site	SNP	ENST00000435504.4	37			.	.	.	.	.	.	.	.	.	.	C	29.4	5.007080	0.93287	.	.	ENSG00000143970	ENST00000435504;ENST00000336112;ENST00000404843;ENST00000272341	.	.	.	5.74	5.74	0.90152	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.4653	0.90752	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ASXL2	25835854	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	7.672000	0.83956	2.704000	0.92352	0.655000	0.94253	.		0.373	ASXL2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000325593.3	NM_018263	Intron	19	42	0	0	0	1	0	19	42					T	25982350	C	T	25982350	5	4	389	1	0	0	0	0	0	0	1	0	1067	521	18	3	3387	3	ASXL2	2	25982350	Splice_Site	SNP	C	TCGA-V1-A9OT-01A-11D-A41K-08	918206	25982350	217217023	6	19096											
KCNH7	90134	broad.mit.edu	37	chr2	163241399	163241399	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaagtgtctcttggaactctGataatgtcttatggtatctg	10	16	9	6	0	4	1	0	1	4	0	5	2	4	2	0	2	1	1	0	2	5	4			TCGA-V1-A9OT-01A-11D-A41K-08	TCGA-V1-A9OT-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a578d0f-5710-413d-a40a-e75f63e7042a	9c425266-08aa-46b4-b0b1-6c33962b10da	g.chr2:163241399G>T	ENST00000332142.5	-	13	2860	c.2761C>A	c.(2761-2763)Cag>Aag	p.Q921K		NM_033272.3	NP_150375.2	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 7	921					circadian rhythm (GO:0007623)|potassium ion transmembrane transport (GO:0071805)|protein heterooligomerization (GO:0051291)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	inward rectifier potassium channel activity (GO:0005242)|signal transducer activity (GO:0004871)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Doxazosin(DB00590)|Ibutilide(DB00308)|Miconazole(DB01110)|Prazosin(DB00457)|Terazosin(DB01162)	TTGGAACTCTGATAATGTCTT	0.343																																					GBM(196;1492 2208 17507 24132 45496)	ENST00000332142.5																			0				NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108						c.(2761-2763)Cag>Aag		potassium voltage-gated channel, subfamily H (eag-related), member 7	Ibutilide(DB00308)						165	157	160					2																	163241399		2203	4300	6503	SO:0001583	missense	90134				regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity	g.chr2:163241399G>T	AF032897	CCDS2219.1, CCDS2220.1	2q24.3	2012-07-05			ENSG00000184611	ENSG00000184611		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	18863	protein-coding gene	gene with protein product		608169				16382104	Standard	NM_173162		Approved	Kv11.3, HERG3, erg3	uc002uch.2	Q9NS40	OTTHUMG00000132069	ENST00000332142.5:c.2761C>A	2.37:g.163241399G>T	ENSP00000331727:p.Gln921Lys						p.Q921K	NM_033272.3	NP_150375.2	Q9NS40	KCNH7_HUMAN			13	2860	-			921					Q53QU4|Q53TB7|Q53TP9|Q8IV15	Missense_Mutation	SNP	ENST00000332142.5	37	c.2761C>A	CCDS2219.1	.	.	.	.	.	.	.	.	.	.	G	4.174	0.030786	0.08101	.	.	ENSG00000184611	ENST00000332142	D	0.98437	-4.93	5.6	5.6	0.85130	.	0.351766	0.30969	N	0.008501	D	0.92773	0.7702	N	0.08118	0	0.80722	D	1	B	0.17667	0.023	B	0.14023	0.01	D	0.89417	0.3707	10	0.06757	T	0.87	.	12.8851	0.58038	0.0741:0.0:0.9259:0.0	.	921	Q9NS40	KCNH7_HUMAN	K	921	ENSP00000331727:Q921K	ENSP00000331727:Q921K	Q	-	1	0	KCNH7	162949645	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	5.212000	0.65225	2.650000	0.89964	0.655000	0.94253	CAG		0.343	KCNH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255093.1	NM_033272		33	58	1	0	7.11191e-15	1	8.03955e-15	33	58					T	163241399	G	T	163241399	3	4	389	1	0	0	0	0	1	0	0	0	8037	1299	45	5	845	5	KCNH7	2	163241399	Missense_Mutation	SNP	G	TCGA-V1-A9OT-01A-11D-A41K-08	137259049	163241399	79957974	7	19097											
CDC25A	993	broad.mit.edu	37	chr3	48200922	48200923	+	Frame_Shift_Del	DEL	TC	TC	-																															ggtattcattacccaggcgaTctctctctctcacataccgg																										TCGA-V1-A9OT-01A-11D-A41K-08	TCGA-V1-A9OT-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a578d0f-5710-413d-a40a-e75f63e7042a	9c425266-08aa-46b4-b0b1-6c33962b10da	g.chr3:48200922_48200923delTC	ENST00000302506.3	-	14	1753_1754	c.1345_1346delGA	c.(1345-1347)gatfs	p.D449fs	CDC25A_ENST00000351231.3_Frame_Shift_Del_p.D409fs	NM_001789.2	NP_001780.2	P30304	MPIP1_HUMAN	cell division cycle 25A	449	Rhodanese. {ECO:0000255|PROSITE- ProRule:PRU00173}.				cell proliferation (GO:0008283)|cellular response to UV (GO:0034644)|DNA replication (GO:0006260)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|regulation of cell cycle (GO:0051726)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|response to radiation (GO:0009314)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(9)|prostate(1)|skin(1)	20				BRCA - Breast invasive adenocarcinoma(193;0.000685)|KIRC - Kidney renal clear cell carcinoma(197;0.00596)|Kidney(197;0.00684)		ACCCAGGCGATCTCTCTCTCTC	0.515																																						ENST00000302506.3																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(9)|prostate(1)|skin(1)	20						c.(1345-1347)tfs		cell division cycle 25A																																				SO:0001589	frameshift_variant	993				cell cycle checkpoint|cell division|cell proliferation|cellular response to UV|DNA replication|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|mitosis|regulation of cyclin-dependent protein kinase activity|S phase of mitotic cell cycle	cytosol|nucleoplasm	protein binding|protein tyrosine phosphatase activity	g.chr3:48200922_48200923delTC	M81933	CCDS2760.1, CCDS2761.1	3p21	2013-01-17	2013-01-17		ENSG00000164045	ENSG00000164045		"Protein tyrosine phosphatases / Class III Cys-based PTPs"	1725	protein-coding gene	gene with protein product		116947	"cell division cycle 25A", "cell division cycle 25 homolog A (S. cerevisiae)", "cell division cycle 25 homolog A (S. pombe)"			1836978	Standard	NM_001789		Approved		uc003csh.1	P30304	OTTHUMG00000133535	ENST00000302506.3:c.1345_1346delGA	3.37:g.48200932_48200933delTC	ENSP00000303706:p.Asp449fs					CDC25A_ENST00000351231.3_Frame_Shift_Del_p.D409fs	p.D449fs	NM_001789.2	NP_001780.2	P30304	MPIP1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000685)|KIRC - Kidney renal clear cell carcinoma(197;0.00596)|Kidney(197;0.00684)	14	1753_1754	-			449			Rhodanese.		Q8IZH5|Q96IL3|Q9H2F2	Frame_Shift_Del	DEL	ENST00000302506.3	37	c.1345_1346delGA	CCDS2760.1																																																																																				0.515	CDC25A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257512.2	NM_001789		7	82						7	82	---	---	---	---	-	48200923	TC	-	48200922	7	5	389	1	0	1	0	1	0	0	0	0	3062	1435	50	0	236	0	CDC25A	3	48200922	Frame_Shift_Del	DEL	TC	TCGA-V1-A9OT-01A-11D-A41K-08		48200922	149821508	8	19098											
TLR2	7097	broad.mit.edu	37	chr4	154624745	154624745	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttccgtggaatgtttggaacTgcgagatactgatttggaca	10	13	12	6	2	0	2	0	1	0	1	1	6	1	5	1	3	3	1	1	3	3	4			TCGA-V1-A9OT-01A-11D-A41K-08	TCGA-V1-A9OT-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a578d0f-5710-413d-a40a-e75f63e7042a	9c425266-08aa-46b4-b0b1-6c33962b10da	g.chr4:154624745T>C	ENST00000260010.6	+	1	2094	c.686T>C	c.(685-687)cTg>cCg	p.L229P		NM_003264.3	NP_003255.2	O60603	TLR2_HUMAN	toll-like receptor 2	229					apoptotic process (GO:0006915)|cell surface pattern recognition receptor signaling pathway (GO:0002752)|cellular response to bacterial lipopeptide (GO:0071221)|cellular response to diacyl bacterial lipopeptide (GO:0071726)|cellular response to lipoteichoic acid (GO:0071223)|cellular response to peptidoglycan (GO:0071224)|cellular response to triacyl bacterial lipopeptide (GO:0071727)|central nervous system myelin formation (GO:0032289)|chloramphenicol transport (GO:0042892)|defense response to Gram-positive bacterium (GO:0050830)|detection of diacyl bacterial lipopeptide (GO:0042496)|detection of triacyl bacterial lipopeptide (GO:0042495)|I-kappaB phosphorylation (GO:0007252)|immune response (GO:0006955)|induction by symbiont of defense-related host nitric oxide production (GO:0052063)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|leukotriene metabolic process (GO:0006691)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|microglial cell activation involved in immune response (GO:0002282)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|negative regulation of cell proliferation (GO:0008285)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of interleukin-17 production (GO:0032700)|nitric oxide metabolic process (GO:0046209)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of chemokine production (GO:0032722)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-18 production (GO:0032741)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of macrophage cytokine production (GO:0060907)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of oligodendrocyte differentiation (GO:0048714)|positive regulation of toll-like receptor signaling pathway (GO:0034123)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of Wnt signaling pathway (GO:0030177)|response to fatty acid (GO:0070542)|response to hypoxia (GO:0001666)|response to insulin (GO:0032868)|response to molecule of fungal origin (GO:0002238)|response to progesterone (GO:0032570)|response to toxic substance (GO:0009636)|signal transduction (GO:0007165)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)	cell body (GO:0044297)|cell projection (GO:0042995)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|Toll-like receptor 1-Toll-like receptor 2 protein complex (GO:0035354)|Toll-like receptor 2-Toll-like receptor 6 protein complex (GO:0035355)	diacyl lipopeptide binding (GO:0042498)|lipopolysaccharide receptor activity (GO:0001875)|lipoteichoic acid binding (GO:0070891)|peptidoglycan binding (GO:0042834)|protein heterodimerization activity (GO:0046982)|receptor activity (GO:0004872)|signaling pattern recognition receptor activity (GO:0008329)|transmembrane signaling receptor activity (GO:0004888)|triacyl lipopeptide binding (GO:0042497)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	29	all_hematologic(180;0.093)	Renal(120;0.117)			OspA lipoprotein(DB00045)	TGTTTGGAACTGCGAGATACT	0.338																																						ENST00000260010.6																			0				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	29						c.(685-687)cTg>cCg		toll-like receptor 2							82	79	80					4																	154624745		2203	4300	6503	SO:0001583	missense	7097				cellular response to diacyl bacterial lipopeptide|cellular response to lipoteichoic acid|cellular response to triacyl bacterial lipopeptide|detection of diacyl bacterial lipopeptide|detection of triacyl bacterial lipopeptide|I-kappaB phosphorylation|induction of apoptosis|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of chemokine production|positive regulation of interferon-beta production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|positive regulation of Wnt receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytoplasm|integral to plasma membrane|Toll-like receptor 1-Toll-like receptor 2 protein complex	Gram-positive bacterial cell surface binding|lipopolysaccharide receptor activity|peptidoglycan binding|protein heterodimerization activity|transmembrane receptor activity|triacyl lipopeptide binding	g.chr4:154624745T>C	U88878	CCDS3784.1	4q32	2008-02-05				ENSG00000137462		"CD molecules"	11848	protein-coding gene	gene with protein product		603028				9435236	Standard	XM_005263193		Approved	TIL4, CD282	uc003inq.3	O60603		ENST00000260010.6:c.686T>C	4.37:g.154624745T>C	ENSP00000260010:p.Leu229Pro						p.L229P	NM_003264.3	NP_003255.2	O60603	TLR2_HUMAN			1	2094	+	all_hematologic(180;0.093)	Renal(120;0.117)	229					B3Y612|D1CS45|D1CS48|D1CS49|O15454|Q8NI00	Missense_Mutation	SNP	ENST00000260010.6	37	c.686T>C	CCDS3784.1	.	.	.	.	.	.	.	.	.	.	T	13.90	2.376247	0.42105	.	.	ENSG00000137462	ENST00000260010	D	0.96745	-4.11	5.61	4.43	0.53597	.	0.326269	0.25958	N	0.027204	D	0.96497	0.8857	L	0.40543	1.245	0.54753	D	0.999989	D	0.89917	1.0	D	0.85130	0.997	D	0.96390	0.9288	10	0.87932	D	0	.	11.2608	0.49083	0.0:0.0715:0.0:0.9285	.	229	O60603	TLR2_HUMAN	P	229	ENSP00000260010:L229P	ENSP00000260010:L229P	L	+	2	0	TLR2	154844195	1.000000	0.71417	0.967000	0.41034	0.082000	0.17680	5.123000	0.64703	2.261000	0.74972	0.533000	0.62120	CTG		0.338	TLR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365205.1			26	49	0	0	0	1	0	26	49					C	154624745	T	C	154624745	3	2	389	1	0	0	0	0	1	0	0	0	15948	1580	55	4	688	4	TLR2	4	154624745	Missense_Mutation	SNP	T	TCGA-V1-A9OT-01A-11D-A41K-08		154624745	36529531	9	19099											
FAT1	2195	broad.mit.edu	37	chr4	187540699	187540699	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cgggactgctcgtaatccagGgttctgagtagtgagatgag	9	10	15	7	2	1	3	0	3	1	1	3	5	2	4	1	2	1	4	1	2	2	3			TCGA-V1-A9OT-01A-11D-A41K-08	TCGA-V1-A9OT-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a578d0f-5710-413d-a40a-e75f63e7042a	9c425266-08aa-46b4-b0b1-6c33962b10da	g.chr4:187540699G>A	ENST00000441802.2	-	10	7250	c.7041C>T	c.(7039-7041)acC>acT	p.T2347T		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	2347	Cadherin 21. {ECO:0000255|PROSITE- ProRule:PRU00043}.				actin filament organization (GO:0007015)|anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						CGTAATCCAGGGTTCTGAGTA	0.488										HNSCC(5;0.00058)																											Colon(197;1040 2055 4143 4984 49344)	ENST00000441802.2																			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						c.(7039-7041)acC>acT		FAT atypical cadherin 1							148	151	150					4																	187540699		2122	4237	6359	SO:0001819	synonymous_variant	2195				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding	g.chr4:187540699G>A	X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857		"Cadherins / Cadherin-related"	3595	protein-coding gene	gene with protein product	"cadherin-related family member 8"	600976	"FAT tumor suppressor (Drosophila) homolog", "FAT tumor suppressor homolog 1 (Drosophila)"	FAT		8586420	Standard	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.7041C>T	4.37:g.187540699G>A		HNSCC(5;0.00058)					p.T2347T	NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN			10	7250	-			2347			Cadherin 21.			Silent	SNP	ENST00000441802.2	37	c.7041C>T	CCDS47177.1																																																																																				0.488	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3	NM_005245		56	87	0	0	0	1	0	56	87					A	187540699	G	A	187540699	2	1	389	1	0	0	0	0	0	0	0	1	5689	1219	43	3		3	FAT1	4	187540699	Silent	SNP	G	TCGA-V1-A9OT-01A-11D-A41K-08	32915954	187540699	3613577	10	19100											
SEMA5A	9037	broad.mit.edu	37	chr5	9066665	9066665	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaatcgttgctcatagtggcCgccgttgtcagagatgttga	8	12	13	8	3	2	2	2	1	0	1	3	4	2	2	2	1	1	4	2	1	2	4	rs151007766		TCGA-V1-A9OT-01A-11D-A41K-08	TCGA-V1-A9OT-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a578d0f-5710-413d-a40a-e75f63e7042a	9c425266-08aa-46b4-b0b1-6c33962b10da	g.chr5:9066665C>T	ENST00000382496.5	-	17	2832	c.2167G>A	c.(2167-2169)Ggc>Agc	p.G723S		NM_003966.2	NP_003957.2	Q13591	SEM5A_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A	723	TSP type-1 4. {ECO:0000255|PROSITE- ProRule:PRU00210}.			G -> D (in Ref. 1; AAC09473). {ECO:0000305}.	axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|blood vessel endothelial cell proliferation involved in sprouting angiogenesis (GO:0002043)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell-cell signaling (GO:0007267)|diencephalon development (GO:0021536)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of cell adhesion (GO:0007162)|negative regulation of endothelial cell apoptotic process (GO:2000352)|nervous system development (GO:0007399)|patterning of blood vessels (GO:0001569)|positive chemotaxis (GO:0050918)|positive regulation of actin filament depolymerization (GO:0030836)|positive regulation of angiogenesis (GO:0045766)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of protein kinase B signaling (GO:0051897)|signal clustering (GO:1990256)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	axon guidance receptor activity (GO:0008046)|chondroitin sulfate proteoglycan binding (GO:0035373)|heparan sulfate proteoglycan binding (GO:0043395)|semaphorin receptor binding (GO:0030215)|syndecan binding (GO:0045545)			biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	81						TCATAGTGGCCGCCGTTGTCA	0.547													C|||	1	0.000199681	0	0	5008	,	,		16419	0		0.001	False		,,,				2504	0					ENST00000382496.5																			0				biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	81						c.(2167-2169)Ggc>Agc		sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A		C	SER/GLY	0,4406		0,0,2203	161	149	153		2167	5.5	0.9	5	dbSNP_134	153	3,8597	3.7+/-12.6	0,3,4297	yes	missense	SEMA5A	NM_003966.2	56	0,3,6500	TT,TC,CC		0.0349,0.0,0.0231	possibly-damaging	723/1075	9066665	3,13003	2203	4300	6503	SO:0001583	missense	9037				cell adhesion|cell-cell signaling	integral to membrane|plasma membrane		g.chr5:9066665C>T	U52840	CCDS3875.1	5p15.2	2008-05-15			ENSG00000112902	ENSG00000112902		"Semaphorins"	10736	protein-coding gene	gene with protein product		609297		SEMAF		8817451, 9464278	Standard	NM_003966		Approved	semF	uc003jek.2	Q13591	OTTHUMG00000090501	ENST00000382496.5:c.2167G>A	5.37:g.9066665C>T	ENSP00000371936:p.Gly723Ser						p.G723S	NM_003966.2	NP_003957.2	Q13591	SEM5A_HUMAN			17	2832	-			723	G -> D (in Ref. 1; AAC09473).		TSP type-1 4.		D3DTC6|O60408|Q1RLL9	Missense_Mutation	SNP	ENST00000382496.5	37	c.2167G>A	CCDS3875.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	16.49	3.137203	0.56936	0.0	3.49E-4	ENSG00000112902	ENST00000382496	T	0.34667	1.35	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	T	0.29850	0.0746	L	0.46157	1.445	0.80722	D	1	P	0.47910	0.902	B	0.32090	0.14	T	0.20538	-1.0272	10	0.52906	T	0.07	.	17.2904	0.87154	0.0:1.0:0.0:0.0	.	723	Q13591	SEM5A_HUMAN	S	723	ENSP00000371936:G723S	ENSP00000371936:G723S	G	-	1	0	SEMA5A	9119665	1.000000	0.71417	0.947000	0.38551	0.187000	0.23431	7.511000	0.81718	2.761000	0.94854	0.591000	0.81541	GGC		0.547	SEMA5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206989.2			12	88	0	0	0	1	0	12	88					T	9066665	C	T	9066665	3	4	389	1	0	0	0	0	1	0	0	0	14037	652	23	2	1085	2	SEMA5A	5	9066665	Missense_Mutation	SNP	C	TCGA-V1-A9OT-01A-11D-A41K-08		9066665	171848595	11	19101											
ALDH7A1	501	broad.mit.edu	37	chr5	125887739	125887739	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	tttaaagacatagagaatcgGagcaaaagtctctgtgtgtg	14	11	11	5	1	1	2	0	0	1	2	3	4	1	3	0	1	1	1	0	1	6	3			TCGA-V1-A9OT-01A-11D-A41K-08	TCGA-V1-A9OT-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a578d0f-5710-413d-a40a-e75f63e7042a	9c425266-08aa-46b4-b0b1-6c33962b10da	g.chr5:125887739G>C	ENST00000409134.3	-	14	1510	c.1291C>G	c.(1291-1293)Ccg>Gcg	p.P431A	RNU6-963P_ENST00000363477.1_RNA|ALDH7A1_ENST00000447989.2_Missense_Mutation_p.P394A|ALDH7A1_ENST00000553117.1_Missense_Mutation_p.P367A	NM_001182.4|NM_001201377.1	NP_001173.2|NP_001188306.1	P49419	AL7A1_HUMAN	aldehyde dehydrogenase 7 family, member A1	431					cellular aldehyde metabolic process (GO:0006081)|cellular nitrogen compound metabolic process (GO:0034641)|glycine betaine biosynthetic process from choline (GO:0019285)|lysine catabolic process (GO:0006554)|sensory perception of sound (GO:0007605)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	aldehyde dehydrogenase (NAD) activity (GO:0004029)|betaine-aldehyde dehydrogenase activity (GO:0008802)|L-aminoadipate-semialdehyde dehydrogenase activity (GO:0004043)			endometrium(1)|kidney(4)|large_intestine(4)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	16		all_cancers(142;0.24)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.0584)|Kidney(363;0.0934)	Epithelial(69;0.0417)|OV - Ovarian serous cystadenocarcinoma(64;0.068)|all cancers(49;0.109)		TAGAGAATCGGAGCAAAAGTC	0.398																																						ENST00000409134.3																			0				endometrium(1)|kidney(4)|large_intestine(4)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	16						c.(1291-1293)Ccg>Gcg		aldehyde dehydrogenase 7 family, member A1	NADH(DB00157)|Pyridoxine(DB00165)						76	68	71					5																	125887739		2203	4300	6503	SO:0001583	missense	501				cellular aldehyde metabolic process|lysine catabolic process|sensory perception of sound	cytosol|mitochondrial matrix|nucleus	aldehyde dehydrogenase (NAD) activity|betaine-aldehyde dehydrogenase activity|L-aminoadipate-semialdehyde dehydrogenase activity	g.chr5:125887739G>C	S74728	CCDS4137.2, CCDS56380.1	5q31	2013-06-03			ENSG00000164904	ENSG00000164904	1.2.1.31	"Aldehyde dehydrogenases"	877	protein-coding gene	gene with protein product	"antiquitin 1", "26g turgor protein homolog", "alpha-aminoadipic semialdehyde dehydrogenase", "alpha-AASA dehydrogenase", "delta1-piperideine-6-carboxylate dehydrogenease", "P6c dehydrogenase"	107323		ATQ1		9417906	Standard	NM_001182		Approved	EPD, PDE	uc003ktx.3	P49419	OTTHUMG00000128942	ENST00000409134.3:c.1291C>G	5.37:g.125887739G>C	ENSP00000387123:p.Pro431Ala					ALDH7A1_ENST00000447989.2_Missense_Mutation_p.P394A|ALDH7A1_ENST00000553117.1_Missense_Mutation_p.P367A	p.P431A	NM_001182.4|NM_001201377.1	NP_001173.2|NP_001188306.1	P49419	AL7A1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0584)|Kidney(363;0.0934)	Epithelial(69;0.0417)|OV - Ovarian serous cystadenocarcinoma(64;0.068)|all cancers(49;0.109)	14	1510	-		all_cancers(142;0.24)|Prostate(80;0.081)	431					B2R669|B4DIC7|B4DMA0|E7EPT3|O14619|Q6IPU8|Q9BUL4	Missense_Mutation	SNP	ENST00000409134.3	37	c.1291C>G	CCDS4137.2	.	.	.	.	.	.	.	.	.	.	G	21.2	4.107058	0.77096	.	.	ENSG00000164904	ENST00000409134;ENST00000553117;ENST00000447989;ENST00000437170	D;D;D	0.95272	-3.66;-3.66;-3.66	4.88	4.01	0.46588	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, C-terminal (1);Aldehyde/histidinol dehydrogenase (1);	0.000000	0.85682	D	0.000000	D	0.98131	0.9383	H	0.98068	4.14	0.49130	D	0.99975	D;D	0.76494	0.984;0.999	D;D	0.69654	0.93;0.965	D	0.98939	1.0790	10	0.87932	D	0	.	13.2222	0.59894	0.0778:0.0:0.9222:0.0	.	394;431	E7EPT3;P49419	.;AL7A1_HUMAN	A	431;367;394;239	ENSP00000387123:P431A;ENSP00000448593:P367A;ENSP00000414132:P394A	ENSP00000387123:P431A	P	-	1	0	ALDH7A1	125915638	1.000000	0.71417	0.988000	0.46212	0.949000	0.60115	9.455000	0.97625	1.416000	0.47057	0.655000	0.94253	CCG		0.398	ALDH7A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250921.2	NM_001182		5	28	0	0	0	1	0	5	28					C	125887739	G	C	125887739	3	2	389	1	0	0	0	0	1	0	0	0	504	1174	41	5	348	5	ALDH7A1	5	125887739	Missense_Mutation	SNP	G	TCGA-V1-A9OT-01A-11D-A41K-08	116821074	125887739	55027521	12	19102											
SYNPO	11346	broad.mit.edu	37	chr5	150029733	150029733	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcccccggccaggacagcctGcagcccactgccgtgagccc	6	4	11	20	2	0	1	0	1	0	0	1	2	1	2	7	2	5	1	7	2	0	0			TCGA-V1-A9OT-01A-11D-A41K-08	TCGA-V1-A9OT-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a578d0f-5710-413d-a40a-e75f63e7042a	9c425266-08aa-46b4-b0b1-6c33962b10da	g.chr5:150029733G>T	ENST00000394243.1	+	3	3002	c.2628G>T	c.(2626-2628)ctG>ctT	p.L876L	SYNPO_ENST00000519664.1_Silent_p.L632L|SYNPO_ENST00000522122.1_Silent_p.L876L|SYNPO_ENST00000307662.4_Silent_p.L632L	NM_001166208.1	NP_001159680.1	Q8N3V7	SYNPO_HUMAN	synaptopodin	876	Pro-rich.				positive regulation of actin filament bundle assembly (GO:0032233)|regulation of stress fiber assembly (GO:0051492)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|postsynaptic membrane (GO:0045211)|stress fiber (GO:0001725)|tight junction (GO:0005923)	actin binding (GO:0003779)			NS(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(4)|prostate(1)|urinary_tract(2)	18		Medulloblastoma(196;0.134)|all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AGGACAGCCTGCAGCCCACTG	0.716																																						ENST00000394243.1																			0				NS(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(4)|prostate(1)|urinary_tract(2)	18						c.(2626-2628)ctG>ctT		synaptopodin							55	61	59					5																	150029733		2203	4299	6502	SO:0001819	synonymous_variant	11346				positive regulation of actin filament bundle assembly|regulation of stress fiber assembly	actin cytoskeleton|cytoplasm|dendritic spine|perikaryon|postsynaptic density|postsynaptic membrane|tight junction	actin binding|protein binding	g.chr5:150029733G>T	AF499137	CCDS4308.1, CCDS54937.1, CCDS54938.1	5q33.1	2008-02-05			ENSG00000171992	ENSG00000171992			30672	protein-coding gene	gene with protein product		608155				9314539, 10470851	Standard	NM_007286		Approved	KIAA1029	uc003lsn.3	Q8N3V7	OTTHUMG00000130078	ENST00000394243.1:c.2628G>T	5.37:g.150029733G>T						SYNPO_ENST00000519664.1_Silent_p.L632L|SYNPO_ENST00000307662.4_Silent_p.L632L|SYNPO_ENST00000522122.1_Silent_p.L876L	p.L876L	NM_001166208.1	NP_001159680.1	Q8N3V7	SYNPO_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		3	3002	+		Medulloblastoma(196;0.134)|all_hematologic(541;0.224)	876			Pro-rich.		A5PKZ8|D3DQG8|O15271|Q9UPX1	Silent	SNP	ENST00000394243.1	37	c.2628G>T	CCDS54937.1																																																																																				0.716	SYNPO-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252371.1	NM_007286		32	54	1	0	5.09552e-08	1	5.40749e-08	32	54					T	150029733	G	T	150029733	2	4	389	1	0	0	0	0	0	0	0	1	15453	1306	46	5		5	SYNPO	5	150029733	Silent	SNP	G	TCGA-V1-A9OT-01A-11D-A41K-08	24141994	150029733	30885527	13	19103											
DLX5	1749	broad.mit.edu	37	chr7	96653671	96653671	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atagtcggcataagctttggCtgggtagctcccggcggagc	7	9	15	10	3	0	0	0	0	0	0	2	1	1	1	1	5	3	5	1	5	3	4			TCGA-V1-A9OT-01A-11D-A41K-08	TCGA-V1-A9OT-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a578d0f-5710-413d-a40a-e75f63e7042a	9c425266-08aa-46b4-b0b1-6c33962b10da	g.chr7:96653671C>T	ENST00000222598.4	-	1	738	c.265G>A	c.(265-267)Gcc>Acc	p.A89T	DLX5_ENST00000486603.2_Missense_Mutation_p.A89T|DLX5_ENST00000493764.1_5'UTR	NM_005221.5	NP_005212.1	P56178	DLX5_HUMAN	distal-less homeobox 5	89					anatomical structure formation involved in morphogenesis (GO:0048646)|axon guidance (GO:0007411)|BMP signaling pathway (GO:0030509)|cell proliferation (GO:0008283)|cellular response to BMP stimulus (GO:0071773)|embryonic limb morphogenesis (GO:0030326)|endochondral ossification (GO:0001958)|epithelial cell differentiation (GO:0030855)|face morphogenesis (GO:0060325)|inner ear morphogenesis (GO:0042472)|nervous system development (GO:0007399)|olfactory pit development (GO:0060166)|osteoblast differentiation (GO:0001649)|palate development (GO:0060021)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus (GO:1901522)|positive regulation of transcription, DNA-templated (GO:0045893)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|transcription regulatory region DNA binding (GO:0044212)			central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)	20	all_cancers(62;9.56e-09)|all_epithelial(64;7.38e-09)|Esophageal squamous(72;0.0125)|all_lung(186;0.0855)|Lung NSC(181;0.0858)					TAAGCTTTGGCTGGGTAGCTC	0.602																																						ENST00000222598.4																			0				central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)	20						c.(265-267)Gcc>Acc		distal-less homeobox 5							56	55	55					7																	96653671		2203	4300	6503	SO:0001583	missense	1749				cell proliferation|endochondral ossification|osteoblast differentiation|positive regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	g.chr7:96653671C>T		CCDS5647.1	7q21.3	2011-06-20	2005-12-22		ENSG00000105880	ENSG00000105880		"Homeoboxes / ANTP class : NKL subclass"	2918	protein-coding gene	gene with protein product		600028	"distal-less homeo box 5"			7907794	Standard	XM_005250185		Approved		uc003uon.3	P56178	OTTHUMG00000154200	ENST00000222598.4:c.265G>A	7.37:g.96653671C>T	ENSP00000222598:p.Ala89Thr					DLX5_ENST00000493764.1_5'UTR|DLX5_ENST00000486603.2_Missense_Mutation_p.A89T	p.A89T	NM_005221.5	NP_005212.1	P56178	DLX5_HUMAN			1	738	-	all_cancers(62;9.56e-09)|all_epithelial(64;7.38e-09)|Esophageal squamous(72;0.0125)|all_lung(186;0.0855)|Lung NSC(181;0.0858)		89					B7Z4P3|Q9UPL1	Missense_Mutation	SNP	ENST00000222598.4	37	c.265G>A	CCDS5647.1	.	.	.	.	.	.	.	.	.	.	C	12.61	1.989172	0.35131	.	.	ENSG00000105880	ENST00000222598	D	0.89746	-2.56	4.97	4.97	0.65823	.	0.240802	0.42294	D	0.000729	D	0.82967	0.5152	N	0.22421	0.69	0.45129	D	0.998144	B;B	0.20368	0.001;0.044	B;B	0.26864	0.002;0.074	T	0.77186	-0.2680	10	0.18276	T	0.48	-8.8541	18.4442	0.90678	0.0:1.0:0.0:0.0	.	89;89	B7Z4P3;P56178	.;DLX5_HUMAN	T	89	ENSP00000222598:A89T	ENSP00000222598:A89T	A	-	1	0	DLX5	96491607	0.998000	0.40836	0.999000	0.59377	0.998000	0.95712	3.758000	0.55220	2.583000	0.87209	0.561000	0.74099	GCC		0.602	DLX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334371.2			20	29	0	0	0	1	0	20	29					T	96653671	C	T	96653671	3	4	389	1	0	0	0	0	1	0	0	0	4574	797	28	3	616	3	DLX5	7	96653671	Missense_Mutation	SNP	C	TCGA-V1-A9OT-01A-11D-A41K-08		96653671	62484992	14	19104											
MLL3	58508	broad.mit.edu	37	chr7	151945083	151945083	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actgagatgtaagttgttggCatgatgtttccagcagagga	11	12	13	5	0	0	3	0	2	0	2	1	5	1	4	1	2	1	6	1	2	1	4			TCGA-V1-A9OT-01A-11D-A41K-08	TCGA-V1-A9OT-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a578d0f-5710-413d-a40a-e75f63e7042a	9c425266-08aa-46b4-b0b1-6c33962b10da	g.chr7:151945083C>T	ENST00000262189.6	-	14	2654	c.2436G>A	c.(2434-2436)atG>atA	p.M812I	KMT2C_ENST00000355193.2_Missense_Mutation_p.M812I	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	812					histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										AAGTTGTTGGCATGATGTTTC	0.448																																						ENST00000355193.2																			0											c.(2434-2436)atG>atA		lysine (K)-specific methyltransferase 2C							425	377	393					7																	151945083		2203	4300	6503	SO:0001583	missense	58508							g.chr7:151945083C>T	AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	13726	protein-coding gene	gene with protein product		606833	"myeloid/lymphoid or mixed-lineage leukemia 3"	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.2436G>A	7.37:g.151945083C>T	ENSP00000262189:p.Met812Ile					KMT2C_ENST00000262189.6_Missense_Mutation_p.M812I	p.M812I							14	2654	-								Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Missense_Mutation	SNP	ENST00000262189.6	37	c.2436G>A	CCDS5931.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.40|11.40	1.627090|1.627090	0.28978|0.28978	.|.	.|.	ENSG00000055609|ENSG00000055609	ENST00000418673|ENST00000262189;ENST00000355193	.|D;D	.|0.82619	.|-1.63;-1.63	5.67|5.67	5.67|5.67	0.87782|0.87782	.|.	.|0.497489	.|0.16641	.|N	.|0.205640	T|T	0.70736|0.70736	0.3258|0.3258	L|L	0.27053|0.27053	0.805|0.805	0.80722|0.80722	D|D	1|1	.|B	.|0.11235	.|0.004	.|B	.|0.04013	.|0.001	T|T	0.62927|0.62927	-0.6750|-0.6750	5|10	.|0.15952	.|T	.|0.53	.|.	9.405|9.405	0.38455|0.38455	0.2476:0.61:0.1424:0.0|0.2476:0.61:0.1424:0.0	.|.	.|812	.|Q8NEZ4	.|MLL3_HUMAN	T|I	8|812	.|ENSP00000262189:M812I;ENSP00000347325:M812I	.|ENSP00000262189:M812I	A|M	-|-	1|3	0|0	MLL3|MLL3	151576016|151576016	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.972000|0.972000	0.66771|0.66771	1.894000|1.894000	0.39768|0.39768	2.658000|2.658000	0.90341|0.90341	0.650000|0.650000	0.86243|0.86243	GCC|ATG		0.448	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3			32	275	0	0	0	1	0	32	275					T	151945083	C	T	151945083	3	4	389	1	0	0	0	0	1	0	0	0	9622	710	25	3	12483	3	MLL3	7	151945083	Missense_Mutation	SNP	C	TCGA-V1-A9OT-01A-11D-A41K-08	55291412	151945083	7193580	15	19105											
MTUS1	57509	broad.mit.edu	37	chr8	17573324	17573324	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	atgagccctggataccaaagGcttcaaataaaaggatcctg	15	8	9	9	0	1	1	1	1	0	0	2	3	2	3	3	3	2	1	3	3	5	3			TCGA-V1-A9OT-01A-11D-A41K-08	TCGA-V1-A9OT-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a578d0f-5710-413d-a40a-e75f63e7042a	9c425266-08aa-46b4-b0b1-6c33962b10da	g.chr8:17573324G>C	ENST00000262102.6	-	5	2760	c.2536C>G	c.(2536-2538)Cct>Gct	p.P846A	MTUS1_ENST00000544260.1_5'UTR|MTUS1_ENST00000381861.3_Missense_Mutation_p.P93A|MTUS1_ENST00000519263.1_Missense_Mutation_p.P792A|MTUS1_ENST00000381869.3_Missense_Mutation_p.P792A	NM_001001924.2	NP_001001924.1	Q9ULD2	MTUS1_HUMAN	microtubule associated tumor suppressor 1	846					cellular response to peptide hormone stimulus (GO:0071375)|regulation of macrophage chemotaxis (GO:0010758)	extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(14)|lung(8)|ovary(1)|skin(2)|urinary_tract(1)	36				Colorectal(111;0.0778)		GATACCAAAGGCTTCAAATAA	0.433																																						ENST00000381869.3																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(14)|lung(8)|ovary(1)|skin(2)|urinary_tract(1)	36						c.(2374-2376)Cct>Gct		microtubule associated tumor suppressor 1							164	158	160					8																	17573324		1839	4087	5926	SO:0001583	missense	57509					Golgi apparatus|microtubule|microtubule organizing center|mitochondrion|nucleus|plasma membrane|spindle		g.chr8:17573324G>C	AL096842	CCDS43716.1, CCDS43717.1, CCDS43718.1, CCDS43719.1, CCDS55204.1	8p22	2013-01-17	2009-10-20		ENSG00000129422	ENSG00000129422			29789	protein-coding gene	gene with protein product	"AT2 receptor-interacting protein", "AT2R binding protein", "mitochondrial tumor suppressor gene 1"	609589	"mitochondrial tumor suppressor 1"			10574462, 12692079	Standard	NM_001001931		Approved	MTSG1, KIAA1288, DKFZp586D1519, FLJ14295, ATIP1, MP44, ATBP, ICIS	uc003wxv.3	Q9ULD2	OTTHUMG00000163756	ENST00000262102.6:c.2536C>G	8.37:g.17573324G>C	ENSP00000262102:p.Pro846Ala					MTUS1_ENST00000544260.1_5'UTR|MTUS1_ENST00000519263.1_Missense_Mutation_p.P792A|MTUS1_ENST00000262102.6_Missense_Mutation_p.P846A|MTUS1_ENST00000381861.3_Missense_Mutation_p.P93A	p.P792A	NM_001001925.2	NP_001001925.1	Q9ULD2	MTUS1_HUMAN		Colorectal(111;0.0778)	4	2847	-			846					A8K135|B2RBJ6|B3KWJ9|B4DH03|B9EGA1|D3DSP8|Q63HJ6|Q659F4|Q6PK49|Q6URW7|Q8N4M6|Q8WTT9|Q9H7T2	Missense_Mutation	SNP	ENST00000262102.6	37	c.2374C>G	CCDS43717.1	.	.	.	.	.	.	.	.	.	.	G	13.88	2.368811	0.42003	.	.	ENSG00000129422	ENST00000381869;ENST00000381861;ENST00000262102;ENST00000519263	T;T;T;T	0.35789	3.22;2.39;1.29;3.22	4.85	3.95	0.45737	.	0.415027	0.24988	N	0.034010	T	0.34687	0.0906	M	0.63428	1.95	0.80722	D	1	B;B;B	0.29862	0.259;0.259;0.001	B;B;B	0.29176	0.099;0.099;0.008	T	0.19778	-1.0295	10	0.48119	T	0.1	-10.1446	10.1337	0.42693	0.0:0.1587:0.6976:0.1437	.	792;846;93	Q9ULD2-2;Q9ULD2;Q9ULD2-6	.;MTUS1_HUMAN;.	A	792;93;846;792	ENSP00000371293:P792A;ENSP00000371285:P93A;ENSP00000262102:P846A;ENSP00000430167:P792A	ENSP00000262102:P846A	P	-	1	0	MTUS1	17617604	1.000000	0.71417	0.995000	0.50966	0.969000	0.65631	2.114000	0.41911	1.313000	0.45069	0.655000	0.94253	CCT		0.433	MTUS1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000375247.1	XM_372031		47	67	0	0	0	1	0	47	67					C	17573324	G	C	17573324	3	2	389	1	0	0	0	0	1	0	0	0	9965	1203	42	5	1445	5	MTUS1	8	17573324	Missense_Mutation	SNP	G	TCGA-V1-A9OT-01A-11D-A41K-08		17573324	128790698	16	19106											
PSD3	23362	broad.mit.edu	37	chr8	18432657	18432665	+	In_Frame_Del	DEL	CCCTCCAGT	CCCTCCAGT	-																															ctgagtttgaaaaagcaagaCcctccagtcggcagttttaa																								rs575649317		TCGA-V1-A9OT-01A-11D-A41K-08	TCGA-V1-A9OT-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a578d0f-5710-413d-a40a-e75f63e7042a	9c425266-08aa-46b4-b0b1-6c33962b10da	g.chr8:18432657_18432665delCCCTCCAGT	ENST00000327040.8	-	13	2714_2722	c.2612_2620delACTGGAGGG	c.(2611-2622)gactggagggtc>gtc	p.DWR871del	PSD3_ENST00000428502.2_In_Frame_Del_p.DWR200del|PSD3_ENST00000440756.2_In_Frame_Del_p.DWR873del|PSD3_ENST00000286485.8_In_Frame_Del_p.DWR337del|PSD3_ENST00000523619.1_In_Frame_Del_p.DWR806del	NM_015310.3	NP_056125.3	Q9NYI0	PSD3_HUMAN	pleckstrin and Sec7 domain containing 3	872	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				neuron differentiation (GO:0030182)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				Colorectal(111;0.0281)|READ - Rectum adenocarcinoma(644;0.183)		AAAAGCAAGACCCTCCAGTCGGCAGTTTT	0.397																																						ENST00000440756.2																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						c.(2617-2628)gtc>g		pleckstrin and Sec7 domain containing 3																																				SO:0001651	inframe_deletion	23362				regulation of ARF protein signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	ARF guanyl-nucleotide exchange factor activity	g.chr8:18432657_18432665delCCCTCCAGT	AF243495	CCDS34854.1, CCDS43720.1	8p21.3	2013-01-10			ENSG00000156011	ENSG00000156011		"Pleckstrin homology (PH) domain containing"	19093	protein-coding gene	gene with protein product		614440					Standard	NM_206909		Approved	KIAA0942, HCA67, EFA6R, DKFZp761K1423	uc003wza.3	Q9NYI0	OTTHUMG00000163711	ENST00000327040.8:c.2612_2620delACTGGAGGG	8.37:g.18432657_18432665delCCCTCCAGT	ENSP00000324127:p.Asp871_Arg873del					PSD3_ENST00000327040.8_In_Frame_Del_p.DWRV871del|PSD3_ENST00000428502.2_In_Frame_Del_p.DWRV200del|PSD3_ENST00000286485.8_In_Frame_Del_p.DWRV337del|PSD3_ENST00000523619.1_In_Frame_Del_p.DWRV806del	p.DWRV873del			Q9NYI0	PSD3_HUMAN		Colorectal(111;0.0281)|READ - Rectum adenocarcinoma(644;0.183)	13	2720_2728	-			872			PH.		A6NFQ4|E9KL50|Q6B003|Q9Y2F1	In_Frame_Del	DEL	ENST00000327040.8	37	c.2618_2626delACTGGAGGG	CCDS43720.1																																																																																				0.397	PSD3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000374867.1	NM_015310		13	90						13	90	---	---	---	---	-	18432665	CCCTCCAGT	-	18432657	7	5	389	1	0	1	0	1	0	0	0	0	12648	507	18	0	539	0	PSD3	8	18432657	In_Frame_Del	DEL	CCCTCCAGT	TCGA-V1-A9OT-01A-11D-A41K-08	859333	18432657	127931365	17	19107											
DOK2	9046	broad.mit.edu	37	chr8	21767171	21767171	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cgaagggcacggcatactccCcctcctggccccgaggccgt	6	5	12	18	4	0	0	0	0	0	0	2	2	2	0	6	4	1	2	6	4	2	1			TCGA-V1-A9OT-01A-11D-A41K-08	TCGA-V1-A9OT-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a578d0f-5710-413d-a40a-e75f63e7042a	9c425266-08aa-46b4-b0b1-6c33962b10da	g.chr8:21767171C>T	ENST00000276420.4	-	5	1148	c.890G>A	c.(889-891)gGg>gAg	p.G297E	DOK2_ENST00000544659.1_Missense_Mutation_p.G143E	NM_003974.2	NP_003965.2	O60496	DOK2_HUMAN	docking protein 2, 56kDa	297					blood coagulation (GO:0007596)|cell surface receptor signaling pathway (GO:0007166)|leukocyte migration (GO:0050900)|Ras protein signal transduction (GO:0007265)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytosol (GO:0005829)	receptor signaling protein activity (GO:0005057)			NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(3)|skin(1)	26				Colorectal(74;0.0145)|COAD - Colon adenocarcinoma(73;0.0608)		GGCATACTCCCCCTCCTGGCC	0.677																																						ENST00000276420.4																			0				NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(3)|skin(1)	26						c.(889-891)gGg>gAg		docking protein 2, 56kDa							51	52	52					8																	21767171		2203	4300	6503	SO:0001583	missense	9046				blood coagulation|leukocyte migration	cytosol	identical protein binding|insulin receptor binding	g.chr8:21767171C>T	AF034970	CCDS6016.1	8p21.3	2008-08-07	2002-08-29		ENSG00000147443	ENSG00000147443			2991	protein-coding gene	gene with protein product		604997	"docking protein 2, 56kD"			9478921, 14645010	Standard	NM_003974		Approved	p56dok-2, Dok-2	uc003wzy.1	O60496	OTTHUMG00000131075	ENST00000276420.4:c.890G>A	8.37:g.21767171C>T	ENSP00000276420:p.Gly297Glu					DOK2_ENST00000544659.1_Missense_Mutation_p.G143E	p.G297E	NM_003974.2	NP_003965.2	O60496	DOK2_HUMAN		Colorectal(74;0.0145)|COAD - Colon adenocarcinoma(73;0.0608)	5	1148	-			297					Q8N5A4	Missense_Mutation	SNP	ENST00000276420.4	37	c.890G>A	CCDS6016.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.941167	0.73557	.	.	ENSG00000147443	ENST00000276420;ENST00000544659;ENST00000518197	T;T;T	0.46819	1.88;1.46;0.86	5.42	5.42	0.78866	.	0.312745	0.31554	N	0.007457	T	0.57315	0.2045	M	0.75447	2.3	0.41784	D	0.989837	D;D	0.59767	0.986;0.986	P;P	0.48304	0.573;0.573	T	0.63134	-0.6705	10	0.51188	T	0.08	.	16.7074	0.85376	0.0:1.0:0.0:0.0	.	297;297	O60496;A8K7W1	DOK2_HUMAN;.	E	297;143;143	ENSP00000276420:G297E;ENSP00000443602:G143E;ENSP00000430729:G143E	ENSP00000276420:G297E	G	-	2	0	DOK2	21823117	0.998000	0.40836	0.997000	0.53966	0.671000	0.39405	2.437000	0.44828	2.541000	0.85698	0.655000	0.94253	GGG		0.677	DOK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253735.3	NM_003974		20	44	0	0	0	1	0	20	44					T	21767171	C	T	21767171	3	4	389	1	0	0	0	0	1	0	0	0	4697	623	22	3	352	3	DOK2	8	21767171	Missense_Mutation	SNP	C	TCGA-V1-A9OT-01A-11D-A41K-08	3334514	21767171	124596851	18	19108											
ESRP1	54845	broad.mit.edu	37	chr8	95680237	95680237	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcaagtcattgtccgcatgcGggggctccctttcacggcca	6	10	11	14	3	3	0	3	0	0	0	5	0	5	0	3	3	1	2	3	3	1	2			TCGA-V1-A9OT-01A-11D-A41K-08	TCGA-V1-A9OT-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a578d0f-5710-413d-a40a-e75f63e7042a	9c425266-08aa-46b4-b0b1-6c33962b10da	g.chr8:95680237G>A	ENST00000433389.2	+	10	1182	c.992G>A	c.(991-993)cGg>cAg	p.R331Q	ESRP1_ENST00000423620.2_Missense_Mutation_p.R331Q|ESRP1_ENST00000454170.2_Missense_Mutation_p.R331Q|ESRP1_ENST00000358397.5_Missense_Mutation_p.R331Q	NM_001034915.2|NM_017697.3	NP_001030087.2|NP_060167.2	Q6NXG1	ESRP1_HUMAN	epithelial splicing regulatory protein 1	331	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA processing (GO:0006397)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)		ESRP1/RAF1(4)	NS(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(6)|prostate(1)|urinary_tract(2)	20						GTCCGCATGCGGGGGCTCCCT	0.493																																						ENST00000433389.2																		ESRP1/RAF1(4)	0				NS(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(6)|prostate(1)|urinary_tract(2)	20						c.(991-993)cGg>cAg		epithelial splicing regulatory protein 1							63	63	63					8																	95680237		1894	4102	5996	SO:0001583	missense	54845				mRNA processing|regulation of RNA splicing|RNA splicing	nucleus|plasma membrane	mRNA binding|nucleotide binding	g.chr8:95680237G>A	AK000178	CCDS47895.1, CCDS47896.1, CCDS47897.1, CCDS47898.1	8q22.1	2013-02-12	2009-03-10	2009-03-10	ENSG00000104413	ENSG00000104413		"RNA binding motif (RRM) containing"	25966	protein-coding gene	gene with protein product		612959	"RNA binding motif protein 35A"	RBM35A		12477932	Standard	NM_017697		Approved	FLJ20171	uc003ygq.4	Q6NXG1	OTTHUMG00000164587	ENST00000433389.2:c.992G>A	8.37:g.95680237G>A	ENSP00000405738:p.Arg331Gln					ESRP1_ENST00000423620.2_Missense_Mutation_p.R331Q|ESRP1_ENST00000358397.5_Missense_Mutation_p.R331Q|ESRP1_ENST00000454170.2_Missense_Mutation_p.R331Q	p.R331Q	NM_001034915.2|NM_017697.3	NP_001030087.2|NP_060167.2	Q6NXG1	ESRP1_HUMAN			10	1182	+			331			RRM 2.		A6NHA8|A8MPX1|E9PB47|Q2M2B0|Q499G3|Q6PJ86|Q9NXL8	Missense_Mutation	SNP	ENST00000433389.2	37	c.992G>A	CCDS47897.1	.	.	.	.	.	.	.	.	.	.	G	34	5.371982	0.95923	.	.	ENSG00000104413	ENST00000423620;ENST00000433389;ENST00000358397;ENST00000454170;ENST00000517610	T;T;T;T;T	0.09723	2.95;2.95;2.95;3.31;2.95	5.78	4.9	0.64082	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (2);	0.000000	0.85682	D	0.000000	T	0.38692	0.1050	M	0.87269	2.87	0.80722	D	1	D;D;D;D;D;D	0.89917	0.997;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.85130	0.951;0.993;0.997;0.994;0.997;0.997	T	0.45086	-0.9285	10	0.87932	D	0	-7.254	14.5728	0.68224	0.0696:0.0:0.9304:0.0	.	331;331;331;331;331;331	D7PBN3;Q6NXG1-4;Q6NXG1-2;E9PB47;Q6NXG1-3;Q6NXG1	.;.;.;.;.;ESRP1_HUMAN	Q	331;331;331;331;190	ENSP00000407349:R331Q;ENSP00000405738:R331Q;ENSP00000351168:R331Q;ENSP00000402766:R331Q;ENSP00000429125:R190Q	ENSP00000351168:R331Q	R	+	2	0	ESRP1	95749413	1.000000	0.71417	0.997000	0.53966	0.998000	0.95712	9.869000	0.99810	1.445000	0.47624	0.563000	0.77884	CGG		0.493	ESRP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379326.1	NM_017697		15	44	0	0	0	1	0	15	44					A	95680237	G	A	95680237	3	1	389	1	0	0	0	0	1	0	0	0	5258	1116	39	2	1030	2	ESRP1	8	95680237	Missense_Mutation	SNP	G	TCGA-V1-A9OT-01A-11D-A41K-08	73913066	95680237	50683785	19	19109											
LAPTM4B	55353	broad.mit.edu	37	chr8	98817641	98817641	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tggctgatccggatcagtatAacttttcaagttctgaactg	10	14	9	8	1	3	2	2	2	1	0	4	3	4	3	1	2	2	3	1	2	4	5			TCGA-V1-A9OT-01A-11D-A41K-08	TCGA-V1-A9OT-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a578d0f-5710-413d-a40a-e75f63e7042a	9c425266-08aa-46b4-b0b1-6c33962b10da	g.chr8:98817641A>G	ENST00000521545.2	+	2	394	c.160A>G	c.(160-162)Aac>Gac	p.N54D	LAPTM4B_ENST00000445593.2_Missense_Mutation_p.N145D			Q86VI4	LAP4B_HUMAN	lysosomal protein transmembrane 4 beta	198					transport (GO:0006810)	integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(2)|skin(1)|stomach(1)	10	Breast(36;1.59e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.149)			GGATCAGTATAACTTTTCAAG	0.378																																						ENST00000445593.2																			0				breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(2)|skin(1)|stomach(1)	10						c.(433-435)Aac>Gac		lysosomal protein transmembrane 4 beta							156	150	152					8																	98817641		2203	4300	6503	SO:0001583	missense	55353				transport	endomembrane system|integral to membrane	protein binding	g.chr8:98817641A>G	AF317417	CCDS6275.1	8q22.1	2008-08-11	2008-08-11		ENSG00000104341	ENSG00000104341			13646	protein-coding gene	gene with protein product		613296					Standard	NM_018407		Approved	LC27	uc003yia.3	Q86VI4	OTTHUMG00000164740	ENST00000521545.2:c.160A>G	8.37:g.98817641A>G	ENSP00000428409:p.Asn54Asp					LAPTM4B_ENST00000521545.2_Missense_Mutation_p.N54D	p.N145D	NM_018407.4	NP_060877.3	Q86VI4	LAP4B_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.149)		2	1113	+	Breast(36;1.59e-06)		198					Q3ZCV5|Q7L909|Q86VH8|Q9H060	Missense_Mutation	SNP	ENST00000521545.2	37	c.433A>G		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.47|17.47	3.396934|3.396934	0.62177|0.62177	.|.	.|.	ENSG00000104341|ENSG00000104341	ENST00000517924|ENST00000445593;ENST00000378722;ENST00000521545	.|T;T	.|0.47177	.|0.85;0.92	5.07|5.07	5.07|5.07	0.68467|0.68467	.|.	.|0.053328	.|0.85682	.|D	.|0.000000	T|T	0.29126|0.29126	0.0724|0.0724	N|N	0.14661|0.14661	0.345|0.345	0.09310|0.09310	N|N	0.999997|0.999997	.|B	.|0.09022	.|0.002	.|B	.|0.06405	.|0.002	T|T	0.13469|0.13469	-1.0508|-1.0508	5|10	.|0.13853	.|T	.|0.58	-15.4479|-15.4479	12.6415|12.6415	0.56712|0.56712	0.1663:0.8337:0.0:0.0|0.1663:0.8337:0.0:0.0	.|.	.|198	.|Q86VI4	.|LAP4B_HUMAN	M|D	107|145;191;54	.|ENSP00000402301:N145D;ENSP00000428409:N54D	.|ENSP00000367995:N191D	I|N	+|+	3|1	3|0	LAPTM4B|LAPTM4B	98886817|98886817	1.000000|1.000000	0.71417|0.71417	0.693000|0.693000	0.30195|0.30195	0.422000|0.422000	0.31414|0.31414	3.801000|3.801000	0.55545|0.55545	1.282000|1.282000	0.44496|0.44496	-0.121000|-0.121000	0.15023|0.15023	ATA|AAC		0.378	LAPTM4B-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000380016.2			43	80	0	0	0	1	0	43	80					G	98817641	A	G	98817641	3	3	389	1	0	0	0	0	1	0	0	0	8625	362	13	4	439	4	LAPTM4B	8	98817641	Missense_Mutation	SNP	A	TCGA-V1-A9OT-01A-11D-A41K-08	3137404	98817641	47546381	20	19110											
NOL8	55035	broad.mit.edu	37	chr9	95064090	95064090	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cagcttcctcccttttctttTttcgttttgctttactgaaa	5	21	4	11	1	1	1	0	1	1	0	4	1	3	1	2	0	3	3	2	0	2	10	rs199815525		TCGA-V1-A9OT-01A-11D-A41K-08	TCGA-V1-A9OT-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a578d0f-5710-413d-a40a-e75f63e7042a	9c425266-08aa-46b4-b0b1-6c33962b10da	g.chr9:95064090T>C	ENST00000535387.1	-	11	2803	c.2804A>G	c.(2803-2805)aAa>aGa	p.K935R	NOL8_ENST00000542053.1_Missense_Mutation_p.K905R|NOL8_ENST00000545558.1_Missense_Mutation_p.K973R|NOL8_ENST00000442668.2_Missense_Mutation_p.K973R|NOL8_ENST00000358855.4_Missense_Mutation_p.K905R					nucleolar protein 8											endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)	16						CCTTTTCTTTTTTCGTTTTGC	0.313													T|||	1	0.000199681	0	0	5008	,	,		16457	0		0.001	False		,,,				2504	0					ENST00000545558.1																			0				endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)	16						c.(2917-2919)aAa>aGa		nucleolar protein 8		T	ARG/LYS	1,3623		0,1,1811	45	37	40		2918	3.3	1	9		40	3,8131		0,3,4064	yes	missense	NOL8	NM_017948.5	26	0,4,5875	CC,CT,TT		0.0369,0.0276,0.034	benign	973/1168	95064090	4,11754	1812	4067	5879	SO:0001583	missense	55035				DNA replication|positive regulation of cell growth	nucleolus	nucleotide binding|protein binding|RNA binding	g.chr9:95064090T>C	AB109030	CCDS47993.1, CCDS59135.1	9q22.32	2013-02-12	2004-01-12	2004-01-14	ENSG00000198000	ENSG00000198000		"RNA binding motif (RRM) containing"	23387	protein-coding gene	gene with protein product		611534	"chromosome 9 open reading frame 34"	C9orf34		12477932	Standard	NM_017948		Approved	FLJ20736, Nop132	uc022bjx.1	Q76FK4	OTTHUMG00000020221	ENST00000535387.1:c.2804A>G	9.37:g.95064090T>C	ENSP00000441300:p.Lys935Arg					NOL8_ENST00000442668.2_Missense_Mutation_p.K973R|NOL8_ENST00000358855.4_Missense_Mutation_p.K905R|NOL8_ENST00000535387.1_Missense_Mutation_p.K935R|NOL8_ENST00000542053.1_Missense_Mutation_p.K905R	p.K973R			Q76FK4	NOL8_HUMAN			13	3410	-			973						Missense_Mutation	SNP	ENST00000535387.1	37	c.2918A>G	CCDS47993.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	T	17.44	3.389746	0.61956	2.76E-4	3.69E-4	ENSG00000198000	ENST00000442668;ENST00000375594;ENST00000358855;ENST00000545558;ENST00000535387;ENST00000542053	T;T;T;T;T	0.19669	2.13;2.13;2.13;2.13;2.13	6.01	3.33	0.38152	.	0.141491	0.64402	N	0.000006	T	0.12603	0.0306	N	0.20685	0.6	0.33851	D	0.632601	B;B	0.24043	0.096;0.058	B;B	0.22152	0.038;0.038	T	0.17868	-1.0355	10	0.23891	T	0.37	-14.4769	10.581	0.45255	0.0:0.1601:0.0:0.8399	.	905;973	Q76FK4-2;Q76FK4	.;NOL8_HUMAN	R	973;937;905;973;935;905	ENSP00000401177:K973R;ENSP00000351723:K905R;ENSP00000441140:K973R;ENSP00000441300:K935R;ENSP00000440709:K905R	ENSP00000351723:K905R	K	-	2	0	NOL8	94103911	1.000000	0.71417	0.998000	0.56505	0.988000	0.76386	2.098000	0.41757	1.083000	0.41159	0.528000	0.53228	AAA		0.313	NOL8-010	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000053082.2	NM_017948		3	3	0	0	0	1	0	3	3					C	95064090	T	C	95064090	3	2	389	1	0	0	0	0	1	0	0	0	10527	1841	64	4	605	4	NOL8	9	95064090	Missense_Mutation	SNP	T	TCGA-V1-A9OT-01A-11D-A41K-08		95064090	46149341	21	19111											
PDCD11	22984	broad.mit.edu	37	chr10	105191973	105191974	+	Frame_Shift_Ins	INS	-	-	A																															accaggccggccagactgttINSacttgcttcttaaagaaagt																										TCGA-V1-A9OT-01A-11D-A41K-08	TCGA-V1-A9OT-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a578d0f-5710-413d-a40a-e75f63e7042a	9c425266-08aa-46b4-b0b1-6c33962b10da	g.chr10:105191973_105191974insA	ENST00000369797.3	+	22	3550_3551	c.3456_3457insA	c.(3457-3459)actfs	p.T1153fs		NM_014976.1	NP_055791.1	Q14690	RRP5_HUMAN	programmed cell death 11	1153	S1 motif 10. {ECO:0000255|PROSITE- ProRule:PRU00180}.				mRNA processing (GO:0006397)|rRNA processing (GO:0006364)	cytosol (GO:0005829)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	64		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)		GCCAGACTGTTACTTGCTTCTT	0.446																																						ENST00000369797.3																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						c.(3454-3459)gtcttgfs		programmed cell death 11																																				SO:0001589	frameshift_variant	22984				mRNA processing|rRNA processing	nucleolus	RNA binding|transcription factor binding	g.chr10:105191973_105191974insA	D80007	CCDS31276.1	10q24.32	2010-07-06			ENSG00000148843	ENSG00000148843			13408	protein-coding gene	gene with protein product		612333				10229231	Standard	XM_005269647		Approved	KIAA0185, ALG-4, RRP5	uc001kwy.1	Q14690	OTTHUMG00000018988	ENST00000369797.3:c.3457dupA	10.37:g.105191974_105191974dupA	ENSP00000358812:p.Thr1153fs						p.VL1152fs	NM_014976.1	NP_055791.1	Q14690	RRP5_HUMAN		Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)	22	3550_3551	+		Colorectal(252;0.0747)|Breast(234;0.128)	1152			S1 motif 10.		Q2TA92|Q5W093|Q6P2J3|Q86VQ8|Q9H4P1	Frame_Shift_Ins	INS	ENST00000369797.3	37	c.3456_3457insA	CCDS31276.1																																																																																				0.446	PDCD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050151.1			41	55						41	55	---	---	---	---	A	105191974	-	A	105191973	7	5	389	1	0	1	1	0	0	0	0	0	11617	1741	61	0	3538	0	PDCD11	10	105191973	Frame_Shift_Ins	INS	-	TCGA-V1-A9OT-01A-11D-A41K-08		105191973	30342774	22	19112											
TAF6L	10629	broad.mit.edu	37	chr11	62546423	62546423	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gctgtgctaggggatgatccGcaactgatgaaggtgagcga	10	8	16	7	2	0	4	0	4	0	0	1	6	1	5	1	3	3	3	1	3	3	1			TCGA-V1-A9OT-01A-11D-A41K-08	TCGA-V1-A9OT-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a578d0f-5710-413d-a40a-e75f63e7042a	9c425266-08aa-46b4-b0b1-6c33962b10da	g.chr11:62546423G>A	ENST00000294168.3	+	6	720	c.519G>A	c.(517-519)ccG>ccA	p.P173P	TMEM223_ENST00000527073.1_Intron	NM_006473.3	NP_006464.1	Q9Y6J9	TAF6L_HUMAN	TAF6-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65kDa	173					chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|DNA-templated transcription, initiation (GO:0006352)|histone H3 acetylation (GO:0043966)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	histone deacetylase complex (GO:0000118)|STAGA complex (GO:0030914)	DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)			endometrium(2)|large_intestine(5)|lung(4)|ovary(3)|prostate(1)|skin(1)	16						GGGATGATCCGCAACTGATGA	0.473																																						ENST00000294168.3																			0				endometrium(2)|large_intestine(5)|lung(4)|ovary(3)|prostate(1)|skin(1)	16						c.(517-519)ccG>ccA		TAF6-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65kDa							143	120	128					11																	62546423		2201	4299	6500	SO:0001819	synonymous_variant	10629				chromatin remodeling|histone H3 acetylation|regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	histone deacetylase complex|STAGA complex	DNA binding|protein binding|transcription coactivator activity	g.chr11:62546423G>A	BC008785	CCDS8035.1	11q12.3	2008-02-01	2002-08-29		ENSG00000162227	ENSG00000162227			17305	protein-coding gene	gene with protein product		602946	"TAF6-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65 kD"			9674425	Standard	NM_006473		Approved	PAF65A	uc001nvc.3	Q9Y6J9	OTTHUMG00000167610	ENST00000294168.3:c.519G>A	11.37:g.62546423G>A						TMEM223_ENST00000527073.1_Intron	p.P173P	NM_006473.3	NP_006464.1	Q9Y6J9	TAF6L_HUMAN			6	720	+			173					B2RAT0|Q96HA6	Silent	SNP	ENST00000294168.3	37	c.519G>A	CCDS8035.1																																																																																				0.473	TAF6L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395352.1	NM_006473		4	81	0	0	0	1	0	4	81					A	62546423	G	A	62546423	2	1	389	1	0	0	0	0	0	0	0	1	15528	1074	38	1		1	TAF6L	11	62546423	Silent	SNP	G	TCGA-V1-A9OT-01A-11D-A41K-08		62546423	72460093	23	19113											
KCNA6	3742	broad.mit.edu	37	chr12	4919742	4919742	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggccaggggcatcgccatcGtctccgtgttggtcattctc	4	11	12	14	4	3	0	1	0	2	0	7	0	3	0	3	4	0	2	3	4	0	2			TCGA-V1-A9OT-01A-11D-A41K-08	TCGA-V1-A9OT-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a578d0f-5710-413d-a40a-e75f63e7042a	9c425266-08aa-46b4-b0b1-6c33962b10da	g.chr12:4919742G>A	ENST00000280684.3	+	1	1401	c.535G>A	c.(535-537)Gtc>Atc	p.V179I	KCNA6_ENST00000433855.1_Missense_Mutation_p.V179I|RP11-234B24.4_ENST00000542988.1_lincRNA			P17658	KCNA6_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 6	179					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|voltage-gated potassium channel activity (GO:0005249)	p.V179I(1)		NS(1)|breast(3)|endometrium(5)|large_intestine(6)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(5)	49					Dalfampridine(DB06637)	CATCGCCATCGTCTCCGTGTT	0.592										HNSCC(72;0.22)																												ENST00000433855.1																			1	Substitution - Missense(1)	p.V179I(1)	large_intestine(1)	NS(1)|breast(3)|endometrium(5)|large_intestine(6)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(5)	49						c.(535-537)Gtc>Atc		potassium voltage-gated channel, shaker-related subfamily, member 6							67	59	62					12																	4919742		2203	4300	6503	SO:0001583	missense	3742					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr12:4919742G>A	X17622	CCDS8534.1	12p13	2014-06-12						"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6225	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 96"	176257				16382104	Standard	NM_002235		Approved	Kv1.6, HBK2, PPP1R96	uc001qng.3	P17658		ENST00000280684.3:c.535G>A	12.37:g.4919742G>A	ENSP00000280684:p.Val179Ile	HNSCC(72;0.22)				KCNA6_ENST00000280684.3_Missense_Mutation_p.V179I	p.V179I	NM_002235.3	NP_002226.1	P17658	KCNA6_HUMAN			1	1401	+			179						Missense_Mutation	SNP	ENST00000280684.3	37	c.535G>A	CCDS8534.1	.	.	.	.	.	.	.	.	.	.	G	14.14	2.446111	0.43429	.	.	ENSG00000151079	ENST00000433855;ENST00000280684	T;T	0.76060	-0.99;-0.99	4.99	4.99	0.66335	.	0.127069	0.52532	D	0.000077	T	0.60560	0.2278	N	0.25647	0.755	0.58432	D	0.999995	B	0.29188	0.236	B	0.19148	0.024	T	0.57670	-0.7771	10	0.16896	T	0.51	.	17.4425	0.87568	0.0:0.0:1.0:0.0	.	179	P17658	KCNA6_HUMAN	I	179	ENSP00000408321:V179I;ENSP00000280684:V179I	ENSP00000280684:V179I	V	+	1	0	KCNA6	4790003	1.000000	0.71417	1.000000	0.80357	0.807000	0.45602	7.798000	0.85924	2.595000	0.87683	0.563000	0.77884	GTC		0.592	KCNA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398909.1	NM_002235		22	28	0	0	0	1	0	22	28					A	4919742	G	A	4919742	3	1	389	1	0	0	0	0	1	0	0	0	8007	1145	40	1	537	1	KCNA6	12	4919742	Missense_Mutation	SNP	G	TCGA-V1-A9OT-01A-11D-A41K-08		4919742	128932153	24	19114											
MYO1A	4640	broad.mit.edu	37	chr12	57435234	57435234	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acctctaatatctcaaaaccGtagatatcaaggactcccat	15	10	4	12	1	3	1	2	0	2	1	5	2	4	2	3	1	1	1	3	1	7	4	rs143507529	byFrequency	TCGA-V1-A9OT-01A-11D-A41K-08	TCGA-V1-A9OT-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a578d0f-5710-413d-a40a-e75f63e7042a	9c425266-08aa-46b4-b0b1-6c33962b10da	g.chr12:57435234G>A	ENST00000442789.2	-	14	1433	c.1146C>T	c.(1144-1146)taC>taT	p.Y382Y	MYO1A_ENST00000476795.1_5'Flank|MYO1A_ENST00000544473.1_Silent_p.Y220Y|MYO1A_ENST00000300119.3_Silent_p.Y382Y	NM_001256041.1	NP_001242970.1	Q9UBC5	MYO1A_HUMAN	myosin IA	382	Myosin motor.				microvillus assembly (GO:0030033)|sensory perception of sound (GO:0007605)|vesicle localization (GO:0051648)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|basolateral plasma membrane (GO:0016323)|brush border (GO:0005903)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|filamentous actin (GO:0031941)|lateral plasma membrane (GO:0016328)|microvillus (GO:0005902)|myosin complex (GO:0016459)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(7)|urinary_tract(3)	50						TCTCAAAACCGTAGATATCAA	0.547													G|||	8	0.00159744	0.0061	0	5008	,	,		20294	0		0	False		,,,				2504	0					ENST00000442789.2																			0				breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(7)|urinary_tract(3)	50						c.(1144-1146)taC>taT		myosin IA		G		7,4399	12.9+/-30.5	0,7,2196	154	144	147		1146	-1.1	1	12	dbSNP_134	147	0,8600		0,0,4300	no	coding-synonymous	MYO1A	NM_005379.2		0,7,6496	AA,AG,GG		0.0,0.1589,0.0538		382/1044	57435234	7,12999	2203	4300	6503	SO:0001819	synonymous_variant	4640				sensory perception of sound|vesicle localization	brush border|cortical actin cytoskeleton|filamentous actin|lateral plasma membrane|microvillus|myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	g.chr12:57435234G>A	L29137	CCDS8929.1	12q13-q15	2011-09-27			ENSG00000166866	ENSG00000166866		"Myosins / Myosin superfamily : Class I"	7595	protein-coding gene	gene with protein product		601478		MYHL, DFNA48		8884266, 12736868	Standard	NM_001256041		Approved		uc009zpd.3	Q9UBC5	OTTHUMG00000149899	ENST00000442789.2:c.1146C>T	12.37:g.57435234G>A						MYO1A_ENST00000544473.1_Silent_p.Y220Y|MYO1A_ENST00000300119.3_Silent_p.Y382Y	p.Y382Y	NM_001256041.1	NP_001242970.1	Q9UBC5	MYO1A_HUMAN			14	1433	-			382			Myosin head-like.		Q9UQD7	Silent	SNP	ENST00000442789.2	37	c.1146C>T	CCDS8929.1																																																																																				0.547	MYO1A-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313833.2	NM_005379		40	61	0	0	0	1	0	40	61					A	57435234	G	A	57435234	2	1	389	1	0	0	0	0	0	0	0	1	10068	1140	40	1		1	MYO1A	12	57435234	Silent	SNP	G	TCGA-V1-A9OT-01A-11D-A41K-08	52515492	57435234	76416661	25	19115											
OAS2	4939	broad.mit.edu	37	chr12	113448256	113448256	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctcatccagaagccatagAatcctgaataataattctaa	16	12	4	9	0	2	3	1	1	2	2	5	3	4	3	3	0	1	0	3	0	7	6			TCGA-V1-A9OT-01A-11D-A41K-08	TCGA-V1-A9OT-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a578d0f-5710-413d-a40a-e75f63e7042a	9c425266-08aa-46b4-b0b1-6c33962b10da	g.chr12:113448256A>T	ENST00000342315.4	+	11	2341	c.2127A>T	c.(2125-2127)agA>agT	p.R709S	OAS2_ENST00000392583.2_3'UTR|RP1-71H24.1_ENST00000552784.1_RNA	NM_016817.2	NP_058197.2	P29728	OAS2_HUMAN	2'-5'-oligoadenylate synthetase 2, 69/71kDa	709					cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)|nucleobase-containing compound metabolic process (GO:0006139)|protein glycosylation (GO:0006486)|protein myristoylation (GO:0018377)|purine nucleotide biosynthetic process (GO:0006164)|response to virus (GO:0009615)|RNA catabolic process (GO:0006401)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	2'-5'-oligoadenylate synthetase activity (GO:0001730)|ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(4)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						GAAGCCATAGAATCCTGAATA	0.403																																					Pancreas(199;709 2232 18410 33584 35052)	ENST00000342315.4																			0				NS(1)|breast(2)|endometrium(4)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						c.(2125-2127)agA>agT		2'-5'-oligoadenylate synthetase 2, 69/71kDa							186	197	193					12																	113448256		2203	4300	6503	SO:0001583	missense	0				interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway	endoplasmic reticulum|membrane|microsome|mitochondrion|nucleus	ATP binding|nucleotidyltransferase activity|RNA binding	g.chr12:113448256A>T	M87284	CCDS31906.1, CCDS41839.1, CCDS44982.1	12q24.2	2008-05-02	2002-08-29			ENSG00000111335			8087	protein-coding gene	gene with protein product		603350	"2'-5'-oligoadenylate synthetase 2 (69-71 kD)"			9790745	Standard	NM_002535		Approved		uc001tuj.3	P29728	OTTHUMG00000169802	ENST00000342315.4:c.2127A>T	12.37:g.113448256A>T	ENSP00000342278:p.Arg709Ser					RP1-71H24.1_ENST00000552784.1_RNA|OAS2_ENST00000392583.2_3'UTR	p.R709S	NM_016817.2	NP_058197.2	P29728	OAS2_HUMAN			11	2341	+			709					A8K9T1|Q6PJ33|Q86XX8	Missense_Mutation	SNP	ENST00000342315.4	37	c.2127A>T	CCDS31906.1	.	.	.	.	.	.	.	.	.	.	.	11.51	1.659441	0.29515	.	.	ENSG00000111335	ENST00000342315	T	0.06849	3.25	3.52	-6.98	0.01611	.	.	.	.	.	T	0.03783	0.0107	L	0.27053	0.805	0.09310	N	1	B	0.33694	0.421	B	0.29942	0.109	T	0.31888	-0.9927	9	0.52906	T	0.07	.	0.49	0.00562	0.2697:0.147:0.2949:0.2884	.	709	P29728	OAS2_HUMAN	S	709	ENSP00000342278:R709S	ENSP00000342278:R709S	R	+	3	2	OAS2	111932639	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.670000	0.05256	-1.424000	0.01999	0.533000	0.62120	AGA		0.403	OAS2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000405937.1			66	131	0	0	0	1	0	66	131					T	113448256	A	T	113448256	3	4	389	1	0	0	0	0	1	0	0	0	10800	243	9	5	2255	5	OAS2	12	113448256	Missense_Mutation	SNP	A	TCGA-V1-A9OT-01A-11D-A41K-08	56013022	113448256	20403639	26	19116											
MTUS2	23281	broad.mit.edu	37	chr13	29598982	29598982	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggtcagctcctctcatgaCgagtccaagacatgtgacct	10	9	10	12	1	2	3	2	2	1	1	5	5	4	3	3	1	1	1	3	1	1	0	rs183635259		TCGA-V1-A9OT-01A-11D-A41K-08	TCGA-V1-A9OT-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a578d0f-5710-413d-a40a-e75f63e7042a	9c425266-08aa-46b4-b0b1-6c33962b10da	g.chr13:29598982C>T	ENST00000431530.3	+	1	235	c.177C>T	c.(175-177)gaC>gaT	p.D59D		NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN	microtubule associated tumor suppressor candidate 2	49						cytoplasm (GO:0005737)|microtubule (GO:0005874)	microtubule binding (GO:0008017)|protein homodimerization activity (GO:0042803)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						CCTCTCATGACGAGTCCAAGA	0.418													c|||	1	0.000199681	0	0.0014	5008	,	,		21607	0		0	False		,,,				2504	0					ENST00000431530.3																			0				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						c.(175-177)gaC>gaT		microtubule associated tumor suppressor candidate 2							54	52	53					13																	29598982		1931	4135	6066	SO:0001819	synonymous_variant	23281					cytoplasm|microtubule	microtubule binding|protein homodimerization activity	g.chr13:29598982C>T	AB018317	CCDS41874.1, CCDS45022.1	13q12.3	2013-01-17	2009-10-20	2009-10-20	ENSG00000132938	ENSG00000132938			20595	protein-coding gene	gene with protein product	"+TIP of 150 kDa", "cardiac zipper protein"		"KIAA0774"	KIAA0774		19543227	Standard	NM_001033602		Approved	TIP150, CAZIP, ICIS	uc001usl.4	Q5JR59	OTTHUMG00000016657	ENST00000431530.3:c.177C>T	13.37:g.29598982C>T							p.D59D	NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN			1	235	+			49					A7E292|B4DF81|O94872|Q08E97|Q5JQR3|Q8N5E2	Silent	SNP	ENST00000431530.3	37	c.177C>T	CCDS45022.1																																																																																				0.418	MTUS2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000044336.3	XM_166270		7	19	0	0	0	1	0	7	19					T	29598982	C	T	29598982	2	4	389	1	0	0	0	0	0	0	0	1	9966	535	19	1		1	MTUS2	13	29598982	Silent	SNP	C	TCGA-V1-A9OT-01A-11D-A41K-08		29598982	85570896	27	19117											
MCF2L	23263	broad.mit.edu	37	chr13	113719371	113719371	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gacaagctcagtgctgtgtgCgcacacagagaagaaggaca	14	5	13	9	1	1	2	1	0	0	2	1	5	1	3	0	1	3	3	0	1	3	0	rs376965246		TCGA-V1-A9OT-01A-11D-A41K-08	TCGA-V1-A9OT-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a578d0f-5710-413d-a40a-e75f63e7042a	9c425266-08aa-46b4-b0b1-6c33962b10da	g.chr13:113719371C>T	ENST00000375608.3	+	8	876	c.818C>T	c.(817-819)gCg>gTg	p.A273V	MCF2L_ENST00000421756.1_Missense_Mutation_p.A247V|MCF2L_ENST00000375601.3_Missense_Mutation_p.A247V|MCF2L_ENST00000375597.4_Missense_Mutation_p.A241V|MCF2L_ENST00000423482.2_Missense_Mutation_p.A241V|MCF2L_ENST00000397030.1_Missense_Mutation_p.A276V|MCF2L_ENST00000434480.2_Missense_Mutation_p.A249V|MCF2L_ENST00000442652.2_Missense_Mutation_p.A273V|MCF2L_ENST00000535094.2_Missense_Mutation_p.A243V|MCF2L_ENST00000375604.2_Missense_Mutation_p.A300V			O15068	MCF2L_HUMAN	MCF.2 cell line derived transforming sequence-like	273					apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|extracellular space (GO:0005615)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)	1-phosphatidylinositol binding (GO:0005545)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			kidney(1)|large_intestine(5)|ovary(1)|stomach(1)	8	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0368)|all_epithelial(44;0.0396)|Lung NSC(25;0.129)|Breast(118;0.188)				GTGCTGTGTGCGCACACAGAG	0.622																																						ENST00000397030.1																			0				kidney(1)|large_intestine(5)|ovary(1)|stomach(1)	8						c.(826-828)gCg>gTg		MCF.2 cell line derived transforming sequence-like		C	VAL/ALA,VAL/ALA	0,4406		0,0,2203	83	75	78		722,728	4.9	0	13		78	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	MCF2L	NM_024979.4,NM_001112732.2	64,64	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign,benign	241/1124,243/1126	113719371	1,13005	2203	4300	6503	SO:0001583	missense	23263				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	Rho guanyl-nucleotide exchange factor activity	g.chr13:113719371C>T	AB002360	CCDS9527.2, CCDS45070.1, CCDS9527.3, CCDS45070.2	13q34	2013-01-10			ENSG00000126217	ENSG00000126217		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	14576	protein-coding gene	gene with protein product		609499				9205841	Standard	NM_001112732		Approved	KIAA0362, DBS, OST, ARHGEF14	uc010tjr.2	O15068	OTTHUMG00000017377	ENST00000375608.3:c.818C>T	13.37:g.113719371C>T	ENSP00000364758:p.Ala273Val					MCF2L_ENST00000375601.3_Missense_Mutation_p.A247V|MCF2L_ENST00000535094.2_Missense_Mutation_p.A243V|MCF2L_ENST00000375604.2_Missense_Mutation_p.A300V|MCF2L_ENST00000423482.2_Missense_Mutation_p.A241V|MCF2L_ENST00000375597.4_Missense_Mutation_p.A241V|MCF2L_ENST00000434480.2_Missense_Mutation_p.A249V|MCF2L_ENST00000442652.2_Missense_Mutation_p.A273V|MCF2L_ENST00000421756.1_Missense_Mutation_p.A247V|MCF2L_ENST00000375608.3_Missense_Mutation_p.A273V	p.A276V			O15068	MCF2L_HUMAN			7	864	+	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0368)|all_epithelial(44;0.0396)|Lung NSC(25;0.129)|Breast(118;0.188)	273					A2A2X1|A2A2X2|A2A3G6|A2A3G8|B4DHD6|B4DIL6|E9PDN8|Q5JU56|Q5VXT1|Q6ZWD4|Q765G8|Q765G9|Q8N679	Missense_Mutation	SNP	ENST00000375608.3	37	c.827C>T		.	.	.	.	.	.	.	.	.	.	C	7.766	0.706475	0.15239	0.0	1.16E-4	ENSG00000126217	ENST00000375608;ENST00000442652;ENST00000375604;ENST00000397030;ENST00000430480;ENST00000535094;ENST00000421756;ENST00000375601;ENST00000434480;ENST00000423482;ENST00000375597;ENST00000423251;ENST00000440749	T;T;T;T;T;T;T;T;T;T;T	0.47177	2.13;2.13;2.13;2.13;2.13;2.13;2.13;2.13;2.13;2.13;0.85	4.89	4.89	0.63831	.	0.294806	0.37261	N	0.002173	T	0.35393	0.0930	L	0.31294	0.92	0.09310	N	0.999993	B;B;B;B;B;B	0.18461	0.027;0.011;0.027;0.028;0.014;0.016	B;B;B;B;B;B	0.17722	0.012;0.012;0.019;0.008;0.016;0.008	T	0.13442	-1.0509	10	0.23302	T	0.38	.	13.4992	0.61445	0.0:0.9221:0.0:0.0779	.	241;243;300;205;241;273	E9PDN8;O15068-9;G5E9A1;E2QRA2;O15068-4;O15068	.;.;.;.;.;MCF2L_HUMAN	V	273;273;300;276;243;243;247;247;249;241;241;163;84	ENSP00000364758:A273V;ENSP00000401422:A273V;ENSP00000364754:A300V;ENSP00000380225:A276V;ENSP00000440374:A243V;ENSP00000397285:A247V;ENSP00000364751:A247V;ENSP00000407722:A249V;ENSP00000405639:A241V;ENSP00000364747:A241V;ENSP00000405996:A163V	ENSP00000364747:A241V	A	+	2	0	MCF2L	112767372	0.001000	0.12720	0.017000	0.16124	0.024000	0.10985	1.385000	0.34408	2.265000	0.75225	0.655000	0.94253	GCG		0.622	MCF2L-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000045849.4			3	53	0	0	0	1	0	3	53					T	113719371	C	T	113719371	3	4	389	1	0	0	0	0	1	0	0	0	9379	768	27	1	1020	1	MCF2L	13	113719371	Missense_Mutation	SNP	C	TCGA-V1-A9OT-01A-11D-A41K-08	84120389	113719371	1450507	28	19118											
BTBD7	55727	broad.mit.edu	37	chr14	93708856	93708856	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tctactgcagttcgtcccctGacatgggctggaccggtact	6	11	11	13	2	1	1	0	1	1	0	3	2	2	2	3	3	3	4	3	3	2	3			TCGA-V1-A9OT-01A-11D-A41K-08	TCGA-V1-A9OT-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a578d0f-5710-413d-a40a-e75f63e7042a	9c425266-08aa-46b4-b0b1-6c33962b10da	g.chr14:93708856G>A	ENST00000334746.5	-	11	3469	c.3162C>T	c.(3160-3162)gtC>gtT	p.V1054V	BTBD7_ENST00000393170.2_Silent_p.V628V|BTBD7_ENST00000554565.1_Silent_p.V703V	NM_001002860.2	NP_001002860.2	Q9P203	BTBD7_HUMAN	BTB (POZ) domain containing 7	1054					multicellular organismal development (GO:0007275)|regulation of branching involved in salivary gland morphogenesis (GO:0060693)	nucleus (GO:0005634)				breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(8)|upper_aerodigestive_tract(1)	35		all_cancers(154;0.08)		Epithelial(152;0.196)|COAD - Colon adenocarcinoma(157;0.212)|all cancers(159;0.223)		TTCGTCCCCTGACATGGGCTG	0.527																																						ENST00000334746.5																			0				breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(8)|upper_aerodigestive_tract(1)	35						c.(3160-3162)gtC>gtT		BTB (POZ) domain containing 7							106	114	112					14																	93708856		2203	4300	6503	SO:0001819	synonymous_variant	55727							g.chr14:93708856G>A	AB040958	CCDS32146.1, CCDS32147.1, CCDS73684.1	14q32.13	2013-01-08			ENSG00000011114	ENSG00000011114		"BTB/POZ domain containing"	18269	protein-coding gene	gene with protein product		610386				10819331, 11527404	Standard	NM_001289133		Approved	FLJ10648, FUP1	uc001ybo.3	Q9P203	OTTHUMG00000171269	ENST00000334746.5:c.3162C>T	14.37:g.93708856G>A						BTBD7_ENST00000393170.2_Silent_p.V628V|BTBD7_ENST00000554565.1_Silent_p.V703V	p.V1054V	NM_001002860.2	NP_001002860.2	Q9P203	BTBD7_HUMAN		Epithelial(152;0.196)|COAD - Colon adenocarcinoma(157;0.212)|all cancers(159;0.223)	11	3469	-		all_cancers(154;0.08)	1054					A8K5V7|Q69Z05|Q7Z308|Q86TS0|Q9HAA4|Q9NVM0	Silent	SNP	ENST00000334746.5	37	c.3162C>T	CCDS32146.1																																																																																				0.527	BTBD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412701.1	NM_001002860		41	77	0	0	0	1	0	41	77					A	93708856	G	A	93708856	2	1	389	1	0	0	0	0	0	0	0	1	1546	1277	45	3		3	BTBD7	14	93708856	Silent	SNP	G	TCGA-V1-A9OT-01A-11D-A41K-08		93708856	13640684	29	19119											
SECISBP2L	9728	broad.mit.edu	37	chr15	49288743	49288743	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatatctttatatgctttcCtggcctcctcagtgagttct	6	17	6	12	0	3	1	1	1	2	0	5	1	5	1	4	1	1	2	4	1	3	6			TCGA-V1-A9OT-01A-11D-A41K-08	TCGA-V1-A9OT-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a578d0f-5710-413d-a40a-e75f63e7042a	9c425266-08aa-46b4-b0b1-6c33962b10da	g.chr15:49288743C>T	ENST00000559471.1	-	17	2707	c.2444G>A	c.(2443-2445)aGg>aAg	p.R815K	SECISBP2L_ENST00000261847.3_Missense_Mutation_p.R770K|Y_RNA_ENST00000384377.1_RNA	NM_001193489.1	NP_001180418.1	Q93073	SBP2L_HUMAN	SECIS binding protein 2-like	815							poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(5)|kidney(8)|large_intestine(12)|lung(11)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	46						ATATGCTTTCCTGGCCTCCTC	0.378																																						ENST00000559471.1																			0				breast(1)|endometrium(5)|kidney(8)|large_intestine(12)|lung(11)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	46						c.(2443-2445)aGg>aAg		SECIS binding protein 2-like							201	194	196					15																	49288743		2197	4295	6492	SO:0001583	missense	9728							g.chr15:49288743C>T	BC033001	CCDS32234.1, CCDS53942.1	15q21.1	2014-02-12				ENSG00000138593			28997	protein-coding gene	gene with protein product		615756					Standard	NM_001193489		Approved	KIAA0256	uc001zxe.2	Q93073		ENST00000559471.1:c.2444G>A	15.37:g.49288743C>T	ENSP00000453854:p.Arg815Lys					SECISBP2L_ENST00000261847.3_Missense_Mutation_p.R770K	p.R815K	NM_001193489.1	NP_001180418.1	Q93073	SBP2L_HUMAN			17	2707	-			815					Q8N767	Missense_Mutation	SNP	ENST00000559471.1	37	c.2444G>A	CCDS53942.1	.	.	.	.	.	.	.	.	.	.	C	33	5.262285	0.95368	.	.	ENSG00000138593	ENST00000261847;ENST00000380927	D	0.93604	-3.25	4.94	4.94	0.65067	.	0.000000	0.85682	D	0.000000	D	0.94463	0.8218	L	0.29908	0.895	0.54753	D	0.999986	D;D	0.71674	0.997;0.998	D;D	0.77557	0.978;0.99	D	0.95035	0.8173	10	0.59425	D	0.04	.	18.3573	0.90362	0.0:1.0:0.0:0.0	.	815;770	Q93073;Q93073-2	SBP2L_HUMAN;.	K	770;815	ENSP00000261847:R770K	ENSP00000261847:R770K	R	-	2	0	SECISBP2L	47076035	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	7.300000	0.78841	2.569000	0.86673	0.650000	0.86243	AGG		0.378	SECISBP2L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417277.1	NM_014701		44	74	0	0	0	1	0	44	74					T	49288743	C	T	49288743	3	4	389	1	0	0	0	0	1	0	0	0	14007	681	24	3	869	3	SECISBP2L	15	49288743	Missense_Mutation	SNP	C	TCGA-V1-A9OT-01A-11D-A41K-08		49288743	53242649	30	19120											
MYOCD	93649	broad.mit.edu	37	chr17	12656007	12656007	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cctcctctgacctgtcagtcGctgggtccctgccggacacc	4	9	10	18	2	2	1	1	1	1	0	5	2	4	2	6	2	1	1	6	2	0	0	rs531377746		TCGA-V1-A9OT-01A-11D-A41K-08	TCGA-V1-A9OT-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a578d0f-5710-413d-a40a-e75f63e7042a	9c425266-08aa-46b4-b0b1-6c33962b10da	g.chr17:12656007G>A	ENST00000343344.4	+	10	1402	c.1402G>A	c.(1402-1404)Gct>Act	p.A468T	MYOCD_ENST00000395988.1_3'UTR|MYOCD_ENST00000425538.1_Missense_Mutation_p.A468T|AC005358.1_ENST00000609971.1_Missense_Mutation_p.A372T			Q8IZQ8	MYCD_HUMAN	myocardin	468	Ser-rich.				cardiac muscle cell differentiation (GO:0055007)|cardiac ventricle development (GO:0003231)|cardiocyte differentiation (GO:0035051)|cell growth involved in cardiac muscle cell development (GO:0061049)|cellular component maintenance (GO:0043954)|cellular response to growth factor stimulus (GO:0071363)|cellular response to hypoxia (GO:0071456)|digestive tract development (GO:0048565)|ductus arteriosus closure (GO:0097070)|hepatic stellate cell activation (GO:0035733)|lung alveolus development (GO:0048286)|negative regulation of beta-amyloid clearance (GO:1900222)|negative regulation of cardiac muscle cell apoptotic process (GO:0010667)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of skeletal muscle cell differentiation (GO:2001015)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cardiac muscle cell differentiation (GO:2000727)|positive regulation of cardiac vascular smooth muscle cell differentiation (GO:2000724)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA binding (GO:0043388)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smooth muscle cell differentiation (GO:0051152)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003257)|positive regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation (GO:2000721)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of cell growth by extracellular stimulus (GO:0001560)|regulation of histone acetylation (GO:0035065)|regulation of myoblast differentiation (GO:0045661)|regulation of smooth muscle cell differentiation (GO:0051150)|response to hypoxia (GO:0001666)|smooth muscle cell differentiation (GO:0051145)|urinary bladder development (GO:0060157)|uterus development (GO:0060065)|vasculogenesis (GO:0001570)|ventricular cardiac muscle cell differentiation (GO:0055012)	nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|protein domain specific binding (GO:0019904)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)	p.A468T(1)		breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		CCTGTCAGTCGCTGGGTCCCT	0.627																																						ENST00000425538.1																			1	Substitution - Missense(1)	p.A468T(1)	prostate(1)	breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70						c.(1402-1404)Gct>Act		myocardin							73	69	71					17																	12656007		2203	4300	6503	SO:0001583	missense	93649				cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation	nucleus	nucleic acid binding|RNA polymerase II transcription factor binding transcription factor activity|transcription factor binding	g.chr17:12656007G>A	AF532596	CCDS11163.1, CCDS54091.1	17p11.2	2004-03-01			ENSG00000141052	ENSG00000141052			16067	protein-coding gene	gene with protein product		606127				11439182, 12397177	Standard	XM_005256863		Approved	MYCD	uc002gno.2	Q8IZQ8	OTTHUMG00000058767	ENST00000343344.4:c.1402G>A	17.37:g.12656007G>A	ENSP00000341835:p.Ala468Thr					MYOCD_ENST00000343344.4_Missense_Mutation_p.A468T|MYOCD_ENST00000395988.1_Missense_Mutation_p.A372T	p.A468T	NM_001146312.1|NM_153604.2	NP_001139784.1|NP_705832.1	Q8IZQ8	MYCD_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)	10	1602	+			468			Ser-rich.		Q5UBU5|Q8N7Q1	Missense_Mutation	SNP	ENST00000343344.4	37	c.1402G>A	CCDS11163.1	.	.	.	.	.	.	.	.	.	.	G	2.498	-0.315834	0.05422	.	.	ENSG00000141052	ENST00000395982;ENST00000425538;ENST00000343344;ENST00000395988;ENST00000443061	T;T	0.43688	0.94;0.94	5.66	-1.8	0.07907	.	0.287999	0.41001	N	0.000978	T	0.23171	0.0560	L	0.34521	1.04	0.09310	N	1	B;B;B;B	0.12013	0.003;0.005;0.005;0.003	B;B;B;B	0.08055	0.001;0.002;0.003;0.001	T	0.12426	-1.0548	10	0.22109	T	0.4	-0.7432	5.8551	0.18714	0.5174:0.0:0.3524:0.1302	.	187;372;468;468	E9PEP9;Q8IZQ8-2;Q8IZQ8-3;Q8IZQ8	.;.;.;MYCD_HUMAN	T	187;468;468;372;173	ENSP00000341835:A468T;ENSP00000400148:A173T	ENSP00000341835:A468T	A	+	1	0	MYOCD	12596732	0.991000	0.36638	0.000000	0.03702	0.378000	0.30076	3.173000	0.50839	-0.129000	0.11620	-0.229000	0.12294	GCT		0.627	MYOCD-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129950.1	NM_153604		17	36	0	0	0	1	0	17	36					A	12656007	G	A	12656007	3	1	389	1	0	0	0	0	1	0	0	0	10087	1087	38	1	1440	1	MYOCD	17	12656007	Missense_Mutation	SNP	G	TCGA-V1-A9OT-01A-11D-A41K-08		12656007	68539203	31	19121											
MPO	4353	broad.mit.edu	37	chr17	56349039	56349039	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcaccatcccggagcttcctGaactgggtaccgatgatgca	9	9	10	13	2	1	2	1	2	0	0	3	4	3	3	4	2	4	3	4	2	2	2			TCGA-V1-A9OT-01A-11D-A41K-08	TCGA-V1-A9OT-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a578d0f-5710-413d-a40a-e75f63e7042a	9c425266-08aa-46b4-b0b1-6c33962b10da	g.chr17:56349039G>A	ENST00000225275.3	-	11	2183	c.2007C>T	c.(2005-2007)ttC>ttT	p.F669F	MPO_ENST00000340482.3_Silent_p.F701F	NM_000250.1	NP_000241.1	P05164	PERM_HUMAN	myeloperoxidase	669					aging (GO:0007568)|defense response (GO:0006952)|defense response to fungus (GO:0050832)|hydrogen peroxide catabolic process (GO:0042744)|hypochlorous acid biosynthetic process (GO:0002149)|low-density lipoprotein particle remodeling (GO:0034374)|negative regulation of apoptotic process (GO:0043066)|negative regulation of growth of symbiont in host (GO:0044130)|oxidation-reduction process (GO:0055114)|removal of superoxide radicals (GO:0019430)|respiratory burst involved in defense response (GO:0002679)|response to food (GO:0032094)|response to lipopolysaccharide (GO:0032496)|response to mechanical stimulus (GO:0009612)|response to oxidative stress (GO:0006979)|response to yeast (GO:0001878)	azurophil granule (GO:0042582)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|secretory granule (GO:0030141)	chromatin binding (GO:0003682)|heme binding (GO:0020037)|heparin binding (GO:0008201)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(13)|ovary(2)|pancreas(1)|skin(4)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	46					Aminosalicylic Acid(DB00233)|Bivalirudin(DB00006)|Calcipotriol(DB02300)|Carboplatin(DB00958)|Cefaclor(DB00833)|Cefdinir(DB00535)|Cisplatin(DB00515)|Cysteamine(DB00847)|Dapsone(DB00250)|Enoxaparin(DB01225)|Human Serum Albumin(DB00062)|L-Carnitine(DB00583)|Melatonin(DB01065)|Mesalazine(DB00244)|Nabumetone(DB00461)|Octreotide(DB00104)|Oxaliplatin(DB00526)|Propylthiouracil(DB00550)|Ticlopidine(DB00208)|Tolmetin(DB00500)	GGAGCTTCCTGAACTGGGTAC	0.642																																						ENST00000340482.3																			0				breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(13)|ovary(2)|pancreas(1)|skin(4)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	46						c.(2101-2103)ttC>ttT		myeloperoxidase	Cefdinir(DB00535)						46	43	44					17																	56349039		2203	4300	6503	SO:0001819	synonymous_variant	4353				anti-apoptosis|hydrogen peroxide catabolic process|low-density lipoprotein particle remodeling	extracellular space|lysosome|nucleus|stored secretory granule	chromatin binding|heme binding|heparin binding|peroxidase activity	g.chr17:56349039G>A		CCDS11604.1	17q21.3-q23	2014-09-17				ENSG00000005381	1.11.1.7		7218	protein-coding gene	gene with protein product		606989					Standard	NM_000250		Approved		uc002ivu.1	P05164		ENST00000225275.3:c.2007C>T	17.37:g.56349039G>A						MPO_ENST00000225275.3_Silent_p.F669F	p.F701F			P05164	PERM_HUMAN			10	2279	-			669					A1L4B8|Q14862|Q4PJH5|Q9UCL7	Silent	SNP	ENST00000225275.3	37	c.2103C>T	CCDS11604.1																																																																																				0.642	MPO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443971.1			8	18	0	0	0	1	0	8	18					A	56349039	G	A	56349039	2	1	389	1	0	0	0	0	0	0	0	1	9732	1281	45	3		3	MPO	17	56349039	Silent	SNP	G	TCGA-V1-A9OT-01A-11D-A41K-08	43693032	56349039	24846171	32	19122											
MTMR4	9110	broad.mit.edu	37	chr17	56572509	56572509	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcactggagaagggcagttCagtggaacgggctttgtgct	8	9	17	7	1	1	1	1	0	0	1	1	3	1	2	0	5	2	5	0	5	2	2			TCGA-V1-A9OT-01A-11D-A41K-08	TCGA-V1-A9OT-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a578d0f-5710-413d-a40a-e75f63e7042a	9c425266-08aa-46b4-b0b1-6c33962b10da	g.chr17:56572509C>A	ENST00000323456.5	-	16	3118	c.2994G>T	c.(2992-2994)ctG>ctT	p.L998L	MTMR4_ENST00000579925.1_Silent_p.L941L	NM_004687.4	NP_004678.3	Q9NYA4	MTMR4_HUMAN	myotubularin related protein 4	998					negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|protein dephosphorylation (GO:0006470)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|small molecule metabolic process (GO:0044281)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytosol (GO:0005829)|early endosome membrane (GO:0031901)|extracellular space (GO:0005615)	metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)			breast(10)|endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|skin(5)	36	Medulloblastoma(34;0.127)|all_neural(34;0.237)					AAGGGCAGTTCAGTGGAACGG	0.507																																						ENST00000323456.5																			0				breast(10)|endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|skin(5)	36						c.(2992-2994)ctG>ctT		myotubularin related protein 4							205	190	195					17																	56572509		2203	4300	6503	SO:0001819	synonymous_variant	9110					cytoplasm|membrane	metal ion binding|protein tyrosine phosphatase activity	g.chr17:56572509C>A	AB014547	CCDS11608.1	17q22-q23	2011-06-09				ENSG00000108389		"Zinc fingers, FYVE domain containing", "Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"	7452	protein-coding gene	gene with protein product		603559				9736772	Standard	NM_004687		Approved	KIAA0647, ZFYVE11	uc002iwj.2	Q9NYA4		ENST00000323456.5:c.2994G>T	17.37:g.56572509C>A						MTMR4_ENST00000579925.1_Silent_p.L941L	p.L998L	NM_004687.4	NP_004678.3	Q9NYA4	MTMR4_HUMAN			16	3118	-	Medulloblastoma(34;0.127)|all_neural(34;0.237)		998					D3DTZ6|Q8IV27|Q9Y4D5	Silent	SNP	ENST00000323456.5	37	c.2994G>T	CCDS11608.1																																																																																				0.507	MTMR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444721.1	NM_004687		4	126	1	0	0.00909568	1	0.00945951	4	126					A	56572509	C	A	56572509	2	1	389	1	0	0	0	0	0	0	0	1	9946	813	29	5		5	MTMR4	17	56572509	Silent	SNP	C	TCGA-V1-A9OT-01A-11D-A41K-08	223470	56572509	24622701	33	19123											
ADNP2	22850	broad.mit.edu	37	chr18	77895268	77895268	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caatggccggttccatgcccGgcatgccctctcctccagtg	5	9	10	17	2	1	0	0	0	1	0	4	0	3	0	6	3	2	2	6	3	1	1	rs572333470		TCGA-V1-A9OT-01A-11D-A41K-08	TCGA-V1-A9OT-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a578d0f-5710-413d-a40a-e75f63e7042a	9c425266-08aa-46b4-b0b1-6c33962b10da	g.chr18:77895268G>A	ENST00000262198.4	+	4	2427	c.1972G>A	c.(1972-1974)Ggc>Agc	p.G658S		NM_014913.3	NP_055728.1	Q6IQ32	ADNP2_HUMAN	ADNP homeobox 2	658					cellular response to oxidative stress (GO:0034599)|cellular response to retinoic acid (GO:0071300)|negative regulation of cell death (GO:0060548)|neuron differentiation (GO:0030182)|positive regulation of cell growth (GO:0030307)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.G658S(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(9)|liver(1)|lung(15)|ovary(5)|prostate(2)	42		all_cancers(4;1.06e-15)|all_epithelial(4;2.36e-10)|all_lung(4;0.000302)|Lung NSC(4;0.000518)|Esophageal squamous(42;0.0212)|Ovarian(4;0.0256)|all_hematologic(56;0.15)|Melanoma(33;0.2)		Epithelial(2;1.1e-11)|OV - Ovarian serous cystadenocarcinoma(15;7.54e-09)|BRCA - Breast invasive adenocarcinoma(31;0.00247)|STAD - Stomach adenocarcinoma(84;0.164)		TTCCATGCCCGGCATGCCCTC	0.632													G|||	1	0.000199681	0	0	5008	,	,		20284	0		0	False		,,,				2504	0.001					ENST00000262198.4																			1	Substitution - Missense(1)	p.G658S(1)	prostate(1)	breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(9)|liver(1)|lung(15)|ovary(5)|prostate(2)	42						c.(1972-1974)Ggc>Agc		ADNP homeobox 2							75	67	69					18																	77895268		2203	4300	6503	SO:0001583	missense	22850				cellular response to oxidative stress|cellular response to retinoic acid|negative regulation of cell death|neuron differentiation|positive regulation of cell growth	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr18:77895268G>A	AB020670	CCDS32853.1	18q23	2013-01-07	2007-07-17	2007-07-17	ENSG00000101544	ENSG00000101544		"Homeoboxes / ZF class", "Zinc fingers, C2H2-type"	23803	protein-coding gene	gene with protein product			"zinc finger protein 508"	ZNF508			Standard	NM_014913		Approved	KIAA0863	uc002lnw.3	Q6IQ32	OTTHUMG00000172535	ENST00000262198.4:c.1972G>A	18.37:g.77895268G>A	ENSP00000262198:p.Gly658Ser						p.G658S	NM_014913.3	NP_055728.1	Q6IQ32	ADNP2_HUMAN		Epithelial(2;1.1e-11)|OV - Ovarian serous cystadenocarcinoma(15;7.54e-09)|BRCA - Breast invasive adenocarcinoma(31;0.00247)|STAD - Stomach adenocarcinoma(84;0.164)	4	2427	+		all_cancers(4;1.06e-15)|all_epithelial(4;2.36e-10)|all_lung(4;0.000302)|Lung NSC(4;0.000518)|Esophageal squamous(42;0.0212)|Ovarian(4;0.0256)|all_hematologic(56;0.15)|Melanoma(33;0.2)	658					A8K951|O94943|Q9H9P3	Missense_Mutation	SNP	ENST00000262198.4	37	c.1972G>A	CCDS32853.1	.	.	.	.	.	.	.	.	.	.	G	0.004	-2.301098	0.00243	.	.	ENSG00000101544	ENST00000262198	.	.	.	4.86	-1.77	0.07982	.	0.507797	0.18998	N	0.125431	T	0.18425	0.0442	N	0.04297	-0.235	0.09310	N	1	B	0.10296	0.003	B	0.08055	0.003	T	0.18555	-1.0333	8	.	.	.	-2.5949	13.93	0.63989	0.8458:0.0:0.1542:0.0	.	658	Q6IQ32	ADNP2_HUMAN	S	658	.	.	G	+	1	0	ADNP2	75996259	0.000000	0.05858	0.009000	0.14445	0.017000	0.09413	0.316000	0.19469	-0.623000	0.05618	-0.142000	0.14014	GGC		0.632	ADNP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418979.1	NM_014913		3	46	0	0	0	1	0	3	46					A	77895268	G	A	77895268	3	1	389	1	0	0	0	0	1	0	0	0	324	1116	39	2	1982	2	ADNP2	18	77895268	Missense_Mutation	SNP	G	TCGA-V1-A9OT-01A-11D-A41K-08		77895268	181980	34	19124											
ZNF577	84765	broad.mit.edu	37	chr19	52383622	52383622	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctcacagacattacaatcGtggcatttttcatgtgtttc	9	16	6	10	1	2	1	2	0	0	1	5	1	3	1	1	1	1	2	1	1	2	4			TCGA-V1-A9OT-01A-11D-A41K-08	TCGA-V1-A9OT-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a578d0f-5710-413d-a40a-e75f63e7042a	9c425266-08aa-46b4-b0b1-6c33962b10da	g.chr19:52383622G>A	ENST00000301399.5	-	4	379	c.14C>T	c.(13-15)aCg>aTg	p.T5M	ZNF577_ENST00000420592.1_Missense_Mutation_p.T5M|ZNF577_ENST00000451628.2_Missense_Mutation_p.T5M|ZNF577_ENST00000485702.1_Intron|ZNF577_ENST00000412216.1_Missense_Mutation_p.T5M	NM_032679.2	NP_116068.2	Q9BSK1	ZN577_HUMAN	zinc finger protein 577	5					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	21		all_neural(266;0.0602)		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.019)		cattacaatcgtggcattttt	0.418																																						ENST00000420592.1																			0				breast(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	21						c.(13-15)aCg>aTg		zinc finger protein 577							202	187	192					19																	52383622		2203	4300	6503	SO:0001583	missense	84765				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52383622G>A	AL832871	CCDS12842.2, CCDS46160.1	19q13.41	2013-09-20			ENSG00000161551	ENSG00000161551		"Zinc fingers, C2H2-type", "-"	28673	protein-coding gene	gene with protein product						12477932	Standard	NM_032679		Approved	MGC4400	uc010yde.2	Q9BSK1	OTTHUMG00000157045	ENST00000301399.5:c.14C>T	19.37:g.52383622G>A	ENSP00000301399:p.Thr5Met					ZNF577_ENST00000412216.1_Missense_Mutation_p.T5M|ZNF577_ENST00000301399.5_Missense_Mutation_p.T5M|ZNF577_ENST00000485702.1_Intron|ZNF577_ENST00000451628.2_Missense_Mutation_p.T5M	p.T5M			Q9BSK1	ZN577_HUMAN		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.019)	3	1347	-		all_neural(266;0.0602)	0					A8K0B4|A8K6Z7|C9JFB9	Missense_Mutation	SNP	ENST00000301399.5	37	c.14C>T	CCDS12842.2	.	.	.	.	.	.	.	.	.	.	.	0.006	-2.092029	0.00364	.	.	ENSG00000161551	ENST00000412216;ENST00000301399;ENST00000420592;ENST00000451628;ENST00000458390;ENST00000453272;ENST00000446514;ENST00000419138	T;T;T;T;T;T;T	0.07216	5.58;3.21;3.26;3.26;3.21;4.26;4.04	1.95	0.774	0.18521	.	.	.	.	.	T	0.04998	0.0134	N	0.19112	0.55	0.09310	N	1	B;B	0.09022	0.001;0.002	B;B	0.04013	0.0;0.001	T	0.39099	-0.9630	9	0.51188	T	0.08	.	3.7084	0.08410	0.7946:0.0:0.2054:0.0	.	5;5	Q9BSK1;Q9BSK1-2	ZN577_HUMAN;.	M	5	ENSP00000394828:T5M;ENSP00000301399:T5M;ENSP00000413476:T5M;ENSP00000389652:T5M;ENSP00000404509:T5M;ENSP00000413560:T5M;ENSP00000415307:T5M	ENSP00000301399:T5M	T	-	2	0	ZNF577	57075434	0.001000	0.12720	0.007000	0.13788	0.013000	0.08279	-0.107000	0.10873	0.198000	0.20407	-0.670000	0.03821	ACG		0.418	ZNF577-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000347243.1	NM_032679		51	67	0	0	0	1	0	51	67					A	52383622	G	A	52383622	3	1	389	1	0	0	0	0	1	0	0	0	18006	1145	40	1	1459	1	ZNF577	19	52383622	Missense_Mutation	SNP	G	TCGA-V1-A9OT-01A-11D-A41K-08		52383622	6745361	35	19125											
CDH4	1002	broad.mit.edu	37	chr20	60419780	60419780	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacagcatcacgggagtgggCgccgaccagccccccatgga	9	4	13	15	3	1	0	1	0	0	0	1	3	1	2	5	3	3	1	5	3	1	1	rs527795069		TCGA-V1-A9OT-01A-11D-A41K-08	TCGA-V1-A9OT-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a578d0f-5710-413d-a40a-e75f63e7042a	9c425266-08aa-46b4-b0b1-6c33962b10da	g.chr20:60419780C>T	ENST00000360469.5	+	5	721	c.633C>T	c.(631-633)ggC>ggT	p.G211G	CDH4_ENST00000543233.1_Silent_p.G137G	NM_001794.3	NP_001785.2	P55283	CADH4_HUMAN	cadherin 4, type 1, R-cadherin (retinal)	211	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74			BRCA - Breast invasive adenocarcinoma(19;2.36e-08)			CGGGAGTGGGCGCCGACCAGC	0.597													C|||	1	0.000199681	0	0	5008	,	,		18268	0		0	False		,,,				2504	0.001					ENST00000360469.5																			0				NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74						c.(631-633)ggC>ggT		cadherin 4, type 1, R-cadherin (retinal)							88	76	80					20																	60419780		2203	4300	6503	SO:0001819	synonymous_variant	1002				adherens junction organization|cell junction assembly		calcium ion binding	g.chr20:60419780C>T	L34059	CCDS13488.1, CCDS58784.1	20q13.3	2010-01-26			ENSG00000179242	ENSG00000179242		"Cadherins / Major cadherins"	1763	protein-coding gene	gene with protein product	"R-Cadherin"	603006				10191097, 10516427	Standard	NM_001794		Approved		uc002ybn.2	P55283	OTTHUMG00000032890	ENST00000360469.5:c.633C>T	20.37:g.60419780C>T						CDH4_ENST00000543233.1_Silent_p.G137G	p.G211G	NM_001794.3	NP_001785.2	P55283	CADH4_HUMAN	BRCA - Breast invasive adenocarcinoma(19;2.36e-08)		5	721	+			211			Cadherin 1.		B3KWB8|G3V1P8|Q2M208|Q5VZ44|Q9BZ05	Silent	SNP	ENST00000360469.5	37	c.633C>T	CCDS13488.1																																																																																				0.597	CDH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079965.2	NM_001794		10	27	0	0	0	1	0	10	27					T	60419780	C	T	60419780	2	4	389	1	0	0	0	0	0	0	0	1	3112	755	27	1		1	CDH4	20	60419780	Silent	SNP	C	TCGA-V1-A9OT-01A-11D-A41K-08		60419780	2605740	36	19126											
NUDT11	55190	broad.mit.edu	37	chrX	51239296	51239309	+	Start_Codon_Del	DEL	TCCTCGAGGCAGCC	TCCTCGAGGCAGCC	-																															ctggttgggtttgcacttcaTcctcgaggcagcctcctcga																								rs78182391		TCGA-V1-A9OT-01A-11D-A41K-08	TCGA-V1-A9OT-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a578d0f-5710-413d-a40a-e75f63e7042a	9c425266-08aa-46b4-b0b1-6c33962b10da	g.chrX:51239296_51239309delTCCTCGAGGCAGCC	ENST00000375992.3	-	0	139_152					NM_018159.3	NP_060629.2	Q96G61	NUD11_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 11						inositol phosphate metabolic process (GO:0043647)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|intracellular (GO:0005622)	diphosphoinositol-polyphosphate diphosphatase activity (GO:0008486)|inositol diphosphate tetrakisphosphate diphosphatase activity (GO:0052840)|inositol-1,5-bisdiphosphate-2,3,4,6-tetrakisphosphate 1-diphosphatase activity (GO:0052846)|inositol-1,5-bisdiphosphate-2,3,4,6-tetrakisphosphate 5-diphosphatase activity (GO:0052847)|inositol-1-diphosphate-2,3,4,5,6-pentakisphosphate diphosphatase activity (GO:0052843)|inositol-3,5-bisdiphosphate-2,3,4,6-tetrakisphosphate 5-diphosphatase activity (GO:0052848)|inositol-3-diphosphate-1,2,4,5,6-pentakisphosphate diphosphatase activity (GO:0052844)|inositol-5-diphosphate-1,2,3,4,6-pentakisphosphate diphosphatase activity (GO:0052845)|metal ion binding (GO:0046872)	p.?(5)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|upper_aerodigestive_tract(2)	9	Ovarian(276;0.236)					TTGCACTTCATCCTCGAGGCAGCCTCCTCGAGGC	0.692										HNSCC(48;0.14)				2406	0.637351	0.497	0.4928	3775	,	,		5662	0.4464		0.4553	False		,,,				2504	0.5102				GBM(38;198 791 1498 11752 13599)	ENST00000375992.3																			5	Unknown(5)	p.?(5)	upper_aerodigestive_tract(2)|prostate(1)|breast(1)|central_nervous_system(1)	breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|upper_aerodigestive_tract(2)	9								nudix (nucleoside diphosphate linked moiety X)-type motif 11				1710,202		758,11,183,87,17						3	1		dbSNP_131	12	3133,173		1220,1,692,66,40	no	frameshift	NUDT11	NM_018159.3		1978,12,875,153,57	A1A1,A1R,A1,RR,R		5.2329,10.5649,7.1867				4843,375				SO:0001582	initiator_codon_variant	0					cytoplasm	diphosphoinositol-polyphosphate diphosphatase activity|metal ion binding	g.chrX:51239296_51239309delTCCTCGAGGCAGCC	AK001490	CCDS43952.1	Xp11.22-p11.1	2014-05-20			ENSG00000196368	ENSG00000196368		"Nudix motif containing"	18011	protein-coding gene	gene with protein product						12105228	Standard	NM_018159		Approved	DIPP3b, FLJ10628, hDIPP3beta	uc010njt.3	Q96G61	OTTHUMG00000021531		X.37:g.51239296_51239309delTCCTCGAGGCAGCC		HNSCC(48;0.14)						NM_018159.3	NP_060629.2	Q96G61	NUD11_HUMAN			0	139_152	-	Ovarian(276;0.236)							Q9NVN0	Translation_Start_Site	DEL	ENST00000375992.3	37		CCDS43952.1																																																																																				0.692	NUDT11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056579.1			2	4						2	4	---	---	---	---	-	51239309	TCCTCGAGGCAGCC	-	51239296	7	5	389	1	0	1	0	1	0	0	0	0	10727	1435	50	0	501	0	NUDT11	23	51239296	Start_Codon_Del	DEL	TCCTCGAGGCAGCC	TCGA-V1-A9OT-01A-11D-A41K-08		51239296	104031264	37	19127											
CPSF3L	54973	broad.mit.edu	37	chr1	1250305	1250305	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcgtacgtggactctgtgaTgagcaggttggggcggcact	6	9	18	8	3	1	2	0	2	1	0	1	3	1	3	0	6	2	4	0	6	1	2			TCGA-V1-A9OX-01A-11D-A41K-08	TCGA-V1-A9OX-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3570cce7-c785-454a-a9bf-95415cc61ddf	23c3b771-9882-4554-9725-6aefa7245627	g.chr1:1250305T>A	ENST00000435064.1	-	7	683	c.601A>T	c.(601-603)Atc>Ttc	p.I201F	CPSF3L_ENST00000545578.1_Missense_Mutation_p.I172F|CPSF3L_ENST00000450926.2_Missense_Mutation_p.I179F|CPSF3L_ENST00000540437.1_Missense_Mutation_p.I207F|CPSF3L_ENST00000462432.1_5'UTR|CPSF3L_ENST00000411962.1_Missense_Mutation_p.I103F|RP5-890O3.9_ENST00000444968.1_RNA|CPSF3L_ENST00000419704.1_Missense_Mutation_p.I100F|CPSF3L_ENST00000421495.2_5'UTR	NM_001256460.1|NM_017871.5	NP_001243389.1|NP_060341.2	Q5TA45	INT11_HUMAN	cleavage and polyadenylation specific factor 3-like	201					snRNA processing (GO:0016180)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|integrator complex (GO:0032039)	hydrolase activity (GO:0016787)			endometrium(4)|kidney(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(3)	13	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;6.71e-35)|OV - Ovarian serous cystadenocarcinoma(86;4.35e-21)|Colorectal(212;0.000166)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.00235)|BRCA - Breast invasive adenocarcinoma(365;0.00255)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0349)|Lung(427;0.201)		GACTCTGTGATGAGCAGGTTG	0.632																																						ENST00000540437.1																			0				endometrium(4)|kidney(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(3)	13						c.(619-621)Atc>Ttc		cleavage and polyadenylation specific factor 3-like							82	70	75					1																	1250305		2201	4297	6498	SO:0001583	missense	54973					Golgi apparatus|nucleus	hydrolase activity	g.chr1:1250305T>A	AL136813	CCDS21.1, CCDS57959.1, CCDS57960.1, CCDS57961.1, CCDS72678.1	1p36.33	2008-02-05			ENSG00000127054	ENSG00000127054			26052	protein-coding gene	gene with protein product	"integrator complex subunit 11"	611354				15684398, 16239144	Standard	NM_001256456		Approved	FLJ20542, RC-68, CPSF73L, INT11, INTS11	uc001aee.2	Q5TA45	OTTHUMG00000003330	ENST00000435064.1:c.601A>T	1.37:g.1250305T>A	ENSP00000413493:p.Ile201Phe					CPSF3L_ENST00000411962.1_Missense_Mutation_p.I103F|CPSF3L_ENST00000462432.1_5'UTR|CPSF3L_ENST00000545578.1_Missense_Mutation_p.I172F|CPSF3L_ENST00000419704.1_Missense_Mutation_p.I100F|CPSF3L_ENST00000450926.2_Missense_Mutation_p.I179F|CPSF3L_ENST00000435064.1_Missense_Mutation_p.I201F|CPSF3L_ENST00000421495.2_5'UTR	p.I207F	NM_001256456.1	NP_001243385.1	Q5TA45	INT11_HUMAN		Epithelial(90;6.71e-35)|OV - Ovarian serous cystadenocarcinoma(86;4.35e-21)|Colorectal(212;0.000166)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.00235)|BRCA - Breast invasive adenocarcinoma(365;0.00255)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0349)|Lung(427;0.201)	9	1074	-	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)	201					A8K5S2|B3KPR3|B4DM87|G3V1S5|Q5TA46|Q5TA48|Q5TA52|Q5TA53|Q5TA54|Q7L3D7|Q96HY1|Q9BW36|Q9H0F9|Q9H8R5|Q9HAA6|Q9NWX9	Missense_Mutation	SNP	ENST00000435064.1	37	c.619A>T	CCDS21.1	.	.	.	.	.	.	.	.	.	.	t	20.9	4.069004	0.76301	.	.	ENSG00000127054	ENST00000435064;ENST00000411962;ENST00000419704;ENST00000540437;ENST00000450926;ENST00000545578;ENST00000434694;ENST00000526332;ENST00000527719;ENST00000530031	T;T;T;T;T;T;T;T;T	0.62105	0.65;0.65;0.65;0.65;0.33;0.65;0.05;0.35;0.28	5.53	5.53	0.82687	Beta-lactamase-like (1);	0.000000	0.85682	D	0.000000	D	0.84763	0.5544	H	0.94808	3.585	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.91635	0.999;0.999;0.996;0.997;0.999;0.999	D	0.89235	0.3580	10	0.87932	D	0	-46.962	15.6581	0.77158	0.0:0.0:0.0:1.0	.	179;172;103;100;207;201	Q5TA45-3;B4DM87;C9IYS7;Q5TA45-2;G3V1S5;Q5TA45	.;.;.;.;.;INT11_HUMAN	F	201;103;100;207;179;172;231;77;207;248	ENSP00000413493:I201F;ENSP00000404886:I100F;ENSP00000445001:I207F;ENSP00000392848:I179F;ENSP00000444672:I172F;ENSP00000411233:I231F;ENSP00000434790:I77F;ENSP00000436743:I207F;ENSP00000432009:I248F	ENSP00000400548:I103F	I	-	1	0	CPSF3L	1240168	1.000000	0.71417	1.000000	0.80357	0.901000	0.52897	7.578000	0.82498	2.102000	0.63906	0.529000	0.55759	ATC		0.632	CPSF3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009360.2	NM_017871		6	29	0	0	0	1	0	6	29					A	1250305	T	A	1250305	3	1	390	1	0	0	0	0	1	0	0	0	3827	1464	51	5	1245	5	CPSF3L	1	1250305	Missense_Mutation	SNP	T	TCGA-V1-A9OX-01A-11D-A41K-08		1250305	248000316	1	19128											
KIAA1324	57535	broad.mit.edu	37	chr1	109742748	109742748	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctctgcctgagcagagagTcaccatctgcaaaaccatag	12	9	8	12	0	3	2	1	1	2	1	4	3	3	2	3	0	4	2	3	0	3	2			TCGA-V1-A9OX-01A-11D-A41K-08	TCGA-V1-A9OX-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3570cce7-c785-454a-a9bf-95415cc61ddf	23c3b771-9882-4554-9725-6aefa7245627	g.chr1:109742748T>G	ENST00000369939.3	+	20	2879	c.2696T>G	c.(2695-2697)gTc>gGc	p.V899G	KIAA1324_ENST00000529753.1_Missense_Mutation_p.V812G|KIAA1324_ENST00000369938.1_3'UTR	NM_020775.4	NP_065826	Q6UXG2	K1324_HUMAN	KIAA1324	899					cellular response to starvation (GO:0009267)|macroautophagy (GO:0016236)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|positive regulation of autophagic vacuole assembly (GO:2000786)|positive regulation of vacuole organization (GO:0044090)	endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34		all_epithelial(167;0.000102)|all_lung(203;0.000323)|Lung NSC(277;0.00063)		Colorectal(144;0.0188)|Lung(183;0.0527)|COAD - Colon adenocarcinoma(174;0.14)|Epithelial(280;0.21)|all cancers(265;0.249)		GAGCAGAGAGTCACCATCTGC	0.498																																						ENST00000369939.3																			0				NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34						c.(2695-2697)gTc>gGc		KIAA1324							84	83	83					1																	109742748		2203	4300	6503	SO:0001583	missense	57535				macroautophagy|positive regulation of vacuole organization|regulation of apoptosis	integral to plasma membrane		g.chr1:109742748T>G	AK057647	CCDS794.1, CCDS58015.1	1p13.3	2008-09-18			ENSG00000116299	ENSG00000116299			29618	protein-coding gene	gene with protein product	"estrogen induced gene 121"	611298				10718198, 16322283	Standard	NM_020775		Approved	maba1, EIG121	uc021orb.1	Q6UXG2	OTTHUMG00000011725	ENST00000369939.3:c.2696T>G	1.37:g.109742748T>G	ENSP00000358955:p.Val899Gly					KIAA1324_ENST00000529753.1_Missense_Mutation_p.V812G|KIAA1324_ENST00000369938.1_3'UTR	p.V899G	NM_020775.4	NP_065826.2	Q6UXG2	K1324_HUMAN		Colorectal(144;0.0188)|Lung(183;0.0527)|COAD - Colon adenocarcinoma(174;0.14)|Epithelial(280;0.21)|all cancers(265;0.249)	20	2879	+		all_epithelial(167;0.000102)|all_lung(203;0.000323)|Lung NSC(277;0.00063)	899					Q08AE6|Q5T5C9|Q5T5D0|Q5T5D1|Q9P2M2	Missense_Mutation	SNP	ENST00000369939.3	37	c.2696T>G	CCDS794.1	.	.	.	.	.	.	.	.	.	.	T	21.7	4.190774	0.78789	.	.	ENSG00000116299	ENST00000369939;ENST00000457623;ENST00000529753	T;T;T	0.16073	2.57;2.37;2.58	5.8	5.8	0.92144	.	0.212100	0.41194	D	0.000938	T	0.29749	0.0743	M	0.63843	1.955	0.80722	D	1	D;D;D;D	0.76494	0.971;0.999;0.971;0.971	P;D;P;P	0.69654	0.879;0.965;0.879;0.815	T	0.03750	-1.1007	10	0.87932	D	0	-32.9064	15.1432	0.72626	0.0:0.0:0.0:1.0	.	899;812;899;899	Q6UXG2-4;Q6UXG2-3;C9J810;Q6UXG2	.;.;.;K1324_HUMAN	G	899;849;812	ENSP00000358955:V899G;ENSP00000393964:V849G;ENSP00000434595:V812G	ENSP00000358955:V899G	V	+	2	0	KIAA1324	109544271	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.185000	0.50934	2.227000	0.72691	0.460000	0.39030	GTC		0.498	KIAA1324-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032389.2	NM_020775		7	69	0	0	0	1	0	7	69					G	109742748	T	G	109742748	3	3	390	1	0	0	0	0	1	0	0	0	8223	1667	58	5	2774	5	KIAA1324	1	109742748	Missense_Mutation	SNP	T	TCGA-V1-A9OX-01A-11D-A41K-08	108492443	109742748	139507873	2	19129											
SV2A	9900	broad.mit.edu	37	chr1	149885042	149885042	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccccttactccagccaggggCgccccatctgccatccgctc	5	7	8	21	2	1	0	0	0	1	0	4	0	3	0	8	2	3	1	8	2	1	1	rs200889129		TCGA-V1-A9OX-01A-11D-A41K-08	TCGA-V1-A9OX-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3570cce7-c785-454a-a9bf-95415cc61ddf	23c3b771-9882-4554-9725-6aefa7245627	g.chr1:149885042C>T	ENST00000369146.3	-	2	841	c.351G>A	c.(349-351)gcG>gcA	p.A117A	SV2A_ENST00000369145.1_Silent_p.A117A	NM_001278719.1|NM_014849.3	NP_001265648.1|NP_055664.3	Q7L0J3	SV2A_HUMAN	synaptic vesicle glycoprotein 2A	117					cellular calcium ion homeostasis (GO:0006874)|neurotransmitter transport (GO:0006836)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuromuscular junction (GO:0031594)|neuron projection (GO:0043005)|presynaptic active zone (GO:0048786)|synaptic vesicle (GO:0008021)|synaptic vesicle membrane (GO:0030672)	protein kinase binding (GO:0019901)|receptor activity (GO:0004872)|transmembrane transporter activity (GO:0022857)			breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(16)|ovary(6)|pancreas(1)|prostate(8)|skin(2)|urinary_tract(2)	55	Breast(34;0.00769)|all_hematologic(923;0.127)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)		Levetiracetam(DB01202)	CAGCCAGGGGCGCCCCATCTG	0.637																																						ENST00000369146.3																			0				breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(16)|ovary(6)|pancreas(1)|prostate(8)|skin(2)|urinary_tract(2)	55						c.(349-351)gcG>gcA		synaptic vesicle glycoprotein 2A	Levetiracetam(DB01202)						76	85	82					1																	149885042		2203	4300	6503	SO:0001819	synonymous_variant	0				neurotransmitter transport	cell junction|endoplasmic reticulum|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity	g.chr1:149885042C>T	AB018279	CCDS940.1	1q21.2	2008-02-05			ENSG00000159164	ENSG00000159164			20566	protein-coding gene	gene with protein product		185860				7681585, 10611374	Standard	NM_014849		Approved	SV2, KIAA0736	uc001etg.3	Q7L0J3	OTTHUMG00000012209	ENST00000369146.3:c.351G>A	1.37:g.149885042C>T						SV2A_ENST00000369145.1_Silent_p.A117A	p.A117A	NM_014849.3	NP_055664.3	Q7L0J3	SV2A_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)		2	841	-	Breast(34;0.00769)|all_hematologic(923;0.127)|Colorectal(459;0.171)		117					D3DUZ7|O94841|Q5QNX8|Q7Z3L6|Q8NBJ6|Q9BVZ9	Silent	SNP	ENST00000369146.3	37	c.351G>A	CCDS940.1																																																																																				0.637	SV2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033754.1			13	75	0	0	0	1	0	13	75					T	149885042	C	T	149885042	2	4	390	1	0	0	0	0	0	0	0	1	15414	755	27	1		1	SV2A	1	149885042	Silent	SNP	C	TCGA-V1-A9OX-01A-11D-A41K-08	40142294	149885042	99365579	3	19130											
CPS1	1373	broad.mit.edu	37	chr2	211518758	211518758	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttcgtgacaggagcacccaGtggtgctgacaaaatttgtt	10	11	11	9	1	0	2	0	2	0	0	1	3	0	3	1	2	2	3	1	2	2	3			TCGA-V1-A9OX-01A-11D-A41K-08	TCGA-V1-A9OX-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3570cce7-c785-454a-a9bf-95415cc61ddf	23c3b771-9882-4554-9725-6aefa7245627	g.chr2:211518758G>A	ENST00000233072.5	+	29	3686	c.3490G>A	c.(3490-3492)Gtg>Atg	p.V1164M	CPS1_ENST00000451903.2_Missense_Mutation_p.V713M|CPS1_ENST00000430249.2_Missense_Mutation_p.V1170M	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN	carbamoyl-phosphate synthase 1, mitochondrial	1164	ATP-grasp 2.				anion homeostasis (GO:0055081)|carbamoyl phosphate biosynthetic process (GO:0070409)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to cAMP (GO:0071320)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to glucagon stimulus (GO:0071377)|cellular response to oleic acid (GO:0071400)|citrulline biosynthetic process (GO:0019240)|glutamine catabolic process (GO:0006543)|glycogen catabolic process (GO:0005980)|hepatocyte differentiation (GO:0070365)|homocysteine metabolic process (GO:0050667)|midgut development (GO:0007494)|nitric oxide metabolic process (GO:0046209)|positive regulation of vasodilation (GO:0045909)|response to amine (GO:0014075)|response to amino acid (GO:0043200)|response to dexamethasone (GO:0071548)|response to drug (GO:0042493)|response to food (GO:0032094)|response to growth hormone (GO:0060416)|response to lipopolysaccharide (GO:0032496)|response to starvation (GO:0042594)|response to toxic substance (GO:0009636)|response to zinc ion (GO:0010043)|small molecule metabolic process (GO:0044281)|triglyceride catabolic process (GO:0019433)|urea cycle (GO:0000050)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|carbamoyl-phosphate synthase (ammonia) activity (GO:0004087)|endopeptidase activity (GO:0004175)|glutamate binding (GO:0016595)|modified amino acid binding (GO:0072341)|phospholipid binding (GO:0005543)			breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)	Carglumic Acid(DB06775)	GGAGCACCCAGTGGTGCTGAC	0.423																																						ENST00000233072.5																			0				breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142						c.(3490-3492)Gtg>Atg		carbamoyl-phosphate synthase 1, mitochondrial							106	106	106					2																	211518758		2203	4300	6503	SO:0001583	missense	1373				carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity	g.chr2:211518758G>A	AF154830	CCDS2393.1, CCDS46505.1, CCDS46506.1	2p	2014-09-17	2010-05-11		ENSG00000021826	ENSG00000021826	6.3.4.16		2323	protein-coding gene	gene with protein product		608307	"carbamoyl-phosphate synthetase 1, mitochondrial"				Standard	NM_001122633		Approved		uc002vee.4	P31327	OTTHUMG00000132994	ENST00000233072.5:c.3490G>A	2.37:g.211518758G>A	ENSP00000233072:p.Val1164Met					CPS1_ENST00000451903.2_Missense_Mutation_p.V713M|CPS1_ENST00000430249.2_Missense_Mutation_p.V1170M	p.V1164M	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN		Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)	29	3686	+			1164			ATP-grasp 2.		B7Z818|J3KQL0|O43774|Q53TL5|Q59HF8|Q7Z5I5	Missense_Mutation	SNP	ENST00000233072.5	37	c.3490G>A	CCDS2393.1	.	.	.	.	.	.	.	.	.	.	G	24.4	4.523441	0.85600	.	.	ENSG00000021826	ENST00000430249;ENST00000539150;ENST00000233072;ENST00000451903	D;D;D	0.97906	-4.6;-4.6;-4.6	5.77	5.77	0.91146	ATP-grasp fold (1);ATP-grasp fold, subdomain 2 (1);Carbamoyl-phosphate synthetase, large subunit, ATP-binding (1);	0.000000	0.85682	D	0.000000	D	0.99217	0.9728	H	0.95611	3.695	0.58432	D	0.999995	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.98979	1.0804	10	0.87932	D	0	-8.651	20.3472	0.98799	0.0:0.0:1.0:0.0	.	1174;1164	Q59HF8;P31327	.;CPSM_HUMAN	M	1170;1172;1164;713	ENSP00000402608:V1170M;ENSP00000233072:V1164M;ENSP00000406136:V713M	ENSP00000233072:V1164M	V	+	1	0	CPS1	211227003	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	8.580000	0.90784	2.890000	0.99128	0.650000	0.86243	GTG		0.423	CPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256569.5			15	73	0	0	0	1	0	15	73					A	211518758	G	A	211518758	3	1	390	1	0	0	0	0	1	0	0	0	3823	1029	36	3	3626	3	CPS1	2	211518758	Missense_Mutation	SNP	G	TCGA-V1-A9OX-01A-11D-A41K-08		211518758	31680615	4	19131											
TMEM39A	55254	broad.mit.edu	37	chr3	119153689	119153689	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atataaacatctgctgtgccGcaccagcaccccttgaggcc	10	8	8	15	1	1	1	0	1	1	0	1	1	1	1	5	1	4	3	5	1	3	3			TCGA-V1-A9OX-01A-11D-A41K-08	TCGA-V1-A9OX-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3570cce7-c785-454a-a9bf-95415cc61ddf	23c3b771-9882-4554-9725-6aefa7245627	g.chr3:119153689G>A	ENST00000319172.5	-	8	1573	c.1153C>T	c.(1153-1155)Cgg>Tgg	p.R385W		NM_018266.1	NP_060736.1	Q9NV64	TM39A_HUMAN	transmembrane protein 39A	385						integral component of membrane (GO:0016021)				NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)	13				GBM - Glioblastoma multiforme(114;0.244)		CTGCTGTGCCGCACCAGCACC	0.438																																						ENST00000319172.5																			0				NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)	13						c.(1153-1155)Cgg>Tgg		transmembrane protein 39A							101	93	96					3																	119153689		2203	4300	6503	SO:0001583	missense	55254					integral to membrane		g.chr3:119153689G>A	BC021277	CCDS2987.1	3q13.33	2005-01-10			ENSG00000176142	ENSG00000176142			25600	protein-coding gene	gene with protein product						12477932	Standard	NM_018266		Approved	FLJ10902	uc003eck.2	Q9NV64	OTTHUMG00000159361	ENST00000319172.5:c.1153C>T	3.37:g.119153689G>A	ENSP00000326063:p.Arg385Trp						p.R385W	NM_018266.1	NP_060736.1	Q9NV64	TM39A_HUMAN		GBM - Glioblastoma multiforme(114;0.244)	8	1573	-			385					D3DN80|Q53FN4|Q53GI1|Q6PKB5	Missense_Mutation	SNP	ENST00000319172.5	37	c.1153C>T	CCDS2987.1	.	.	.	.	.	.	.	.	.	.	G	19.54	3.845922	0.71603	.	.	ENSG00000176142	ENST00000319172	T	0.55234	0.53	4.77	4.77	0.60923	.	0.000000	0.85682	D	0.000000	T	0.72128	0.3422	M	0.71036	2.16	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.75502	-0.3295	10	0.87932	D	0	-7.673	17.3349	0.87277	0.0:0.0:1.0:0.0	.	385	Q9NV64	TM39A_HUMAN	W	385	ENSP00000326063:R385W	ENSP00000326063:R385W	R	-	1	2	TMEM39A	120636379	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.089000	0.64492	2.636000	0.89361	0.655000	0.94253	CGG		0.438	TMEM39A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354941.3	NM_018266		4	80	0	0	0	1	0	4	80					A	119153689	G	A	119153689	3	1	390	1	0	0	0	0	1	0	0	0	16158	1086	38	1	321	1	TMEM39A	3	119153689	Missense_Mutation	SNP	G	TCGA-V1-A9OX-01A-11D-A41K-08		119153689	78868741	5	19132											
CASR	846	broad.mit.edu	37	chr3	121994724	121994724	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagcaggtgacctttgatgaGtgtggtgacctggtggggaa	8	10	18	5	0	0	4	0	4	0	0	0	6	0	5	2	5	1	1	2	5	1	1			TCGA-V1-A9OX-01A-11D-A41K-08	TCGA-V1-A9OX-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3570cce7-c785-454a-a9bf-95415cc61ddf	23c3b771-9882-4554-9725-6aefa7245627	g.chr3:121994724G>A	ENST00000490131.1	+	5	1815	c.1443G>A	c.(1441-1443)gaG>gaA	p.E481E	CASR_ENST00000296154.5_Silent_p.E481E|CASR_ENST00000498619.1_Silent_p.E481E	NM_000388.3	NP_000379	P41180	CASR_HUMAN	calcium-sensing receptor	481					anatomical structure morphogenesis (GO:0009653)|calcium ion import (GO:0070509)|cellular calcium ion homeostasis (GO:0006874)|chemosensory behavior (GO:0007635)|detection of calcium ion (GO:0005513)|G-protein coupled receptor signaling pathway (GO:0007186)|metabolic process (GO:0008152)|ossification (GO:0001503)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|phosphatidylinositol phospholipase C activity (GO:0004435)			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	CCTTTGATGAGTGTGGTGACC	0.493																																						ENST00000498619.1																			0				NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84						c.(1441-1443)gaG>gaA		calcium-sensing receptor	Cinacalcet(DB01012)						146	130	136					3																	121994724		2203	4300	6503	SO:0001819	synonymous_variant	846				anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity	g.chr3:121994724G>A	U20760	CCDS3010.1, CCDS54632.1	3q21.1	2012-08-29	2008-08-01		ENSG00000036828	ENSG00000036828		"GPCR / Class C : Calcium-sensing receptors"	1514	protein-coding gene	gene with protein product	"severe neonatal hyperparathyroidism"	601199	"hypocalciuric hypercalcemia 1"	HHC, HHC1		7677761	Standard	NM_000388		Approved	FHH, NSHPT, GPRC2A	uc003eew.4	P41180	OTTHUMG00000159491	ENST00000490131.1:c.1443G>A	3.37:g.121994724G>A						CASR_ENST00000296154.5_Silent_p.E481E|CASR_ENST00000490131.1_Silent_p.E481E	p.E481E	NM_001178065.1	NP_001171536.1	P41180	CASR_HUMAN		GBM - Glioblastoma multiforme(114;0.226)	5	1881	+			481					Q13912|Q16108|Q16109|Q16110|Q16379|Q2M1T0|Q4PJ19	Silent	SNP	ENST00000490131.1	37	c.1443G>A	CCDS3010.1																																																																																				0.493	CASR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355761.1	NM_000388		20	61	0	0	0	1	0	20	61					A	121994724	G	A	121994724	2	1	390	1	0	0	0	0	0	0	0	1	2682	1020	36	3		3	CASR	3	121994724	Silent	SNP	G	TCGA-V1-A9OX-01A-11D-A41K-08	2841035	121994724	76027706	6	19133											
EPHB1	2047	broad.mit.edu	37	chr3	134977925	134977925	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaacagcattcattctatgaGggtccagataagtcagtcac	13	10	9	9	0	4	2	3	1	1	1	5	3	5	2	1	1	2	1	1	1	3	4			TCGA-V1-A9OX-01A-11D-A41K-08	TCGA-V1-A9OX-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3570cce7-c785-454a-a9bf-95415cc61ddf	23c3b771-9882-4554-9725-6aefa7245627	g.chr3:134977925G>C	ENST00000398015.3	+	16	3288	c.2918G>C	c.(2917-2919)aGg>aCg	p.R973T	EPHB1_ENST00000493838.1_Missense_Mutation_p.R534T	NM_004441.4	NP_004432.1	P54762	EPHB1_HUMAN	EPH receptor B1	973	SAM. {ECO:0000255|PROSITE- ProRule:PRU00184}.		R -> W (in dbSNP:rs1042784). {ECO:0000269|PubMed:9430661}.		angiogenesis (GO:0001525)|axon guidance (GO:0007411)|camera-type eye morphogenesis (GO:0048593)|cell chemotaxis (GO:0060326)|cell-substrate adhesion (GO:0031589)|central nervous system projection neuron axonogenesis (GO:0021952)|dendritic spine development (GO:0060996)|dendritic spine morphogenesis (GO:0060997)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|ephrin receptor signaling pathway (GO:0048013)|establishment of cell polarity (GO:0030010)|neural precursor cell proliferation (GO:0061351)|neurogenesis (GO:0022008)|optic nerve morphogenesis (GO:0021631)|positive regulation of synapse assembly (GO:0051965)|protein autophosphorylation (GO:0046777)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of JNK cascade (GO:0046328)|retinal ganglion cell axon guidance (GO:0031290)	axon (GO:0030424)|early endosome membrane (GO:0031901)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|transmembrane-ephrin receptor activity (GO:0005005)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						CATTCTATGAGGGTCCAGATA	0.502																																						ENST00000398015.3																			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						c.(2917-2919)aGg>aCg		EPH receptor B1							75	68	71					3																	134977925		1947	4156	6103	SO:0001583	missense	2047					integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding	g.chr3:134977925G>C	L40636	CCDS46921.1	3q21-q23	2013-02-11	2004-10-28			ENSG00000154928		"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3392	protein-coding gene	gene with protein product		600600	"EphB1"	EPHT2		8666391	Standard	NM_004441		Approved	Hek6	uc003eqt.3	P54762		ENST00000398015.3:c.2918G>C	3.37:g.134977925G>C	ENSP00000381097:p.Arg973Thr					EPHB1_ENST00000493838.1_Missense_Mutation_p.R534T	p.R973T	NM_004441.4	NP_004432.1	P54762	EPHB1_HUMAN			16	3288	+			973		R -> W (in dbSNP:rs1042784).	SAM.		A8K593|B3KTB2|B5A969|O43569|O95142|O95143|Q0VG87	Missense_Mutation	SNP	ENST00000398015.3	37	c.2918G>C	CCDS46921.1	.	.	.	.	.	.	.	.	.	.	G	18.98	3.737628	0.69304	.	.	ENSG00000154928	ENST00000398015;ENST00000493838	T;T	0.53423	0.62;0.62	5.63	5.63	0.86233	Sterile alpha motif domain (2);Sterile alpha motif/pointed domain (2);Sterile alpha motif, type 1 (1);	0.000000	0.85682	D	0.000000	T	0.61640	0.2363	M	0.84846	2.72	0.53688	D	0.999978	B	0.32653	0.379	B	0.38378	0.272	T	0.66396	-0.5934	10	0.87932	D	0	.	19.6855	0.95978	0.0:0.0:1.0:0.0	.	973	P54762	EPHB1_HUMAN	T	973;534	ENSP00000381097:R973T;ENSP00000419574:R534T	ENSP00000381097:R973T	R	+	2	0	EPHB1	136460615	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.789000	0.85783	2.637000	0.89404	0.561000	0.74099	AGG		0.502	EPHB1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357671.1	NM_004441		3	11	0	0	0	1	0	3	11					C	134977925	G	C	134977925	3	2	390	1	0	0	0	0	1	0	0	0	5174	1000	35	5	2980	5	EPHB1	3	134977925	Missense_Mutation	SNP	G	TCGA-V1-A9OX-01A-11D-A41K-08	12983201	134977925	63044505	7	19134											
GAK	2580	broad.mit.edu	37	chr4	870995	870995	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ccatcttcaatcttaaagtcCctaaggacagaatgacaaga	16	9	6	10	0	3	3	1	1	2	2	4	4	4	4	2	1	0	0	2	1	6	3			TCGA-V1-A9OX-01A-11D-A41K-08	TCGA-V1-A9OX-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3570cce7-c785-454a-a9bf-95415cc61ddf	23c3b771-9882-4554-9725-6aefa7245627	g.chr4:870995C>T	ENST00000314167.4	-	17	1967	c.1857G>A	c.(1855-1857)cgG>cgA	p.R619R	GAK_ENST00000511163.1_Splice_Site_p.R540R	NM_005255.2	NP_005246.2	O14976	GAK_HUMAN	cyclin G associated kinase	619	C2 tensin-type. {ECO:0000255|PROSITE- ProRule:PRU00589}.				cell cycle (GO:0007049)|cell development (GO:0048468)|clathrin coat disassembly (GO:0072318)|clathrin-mediated endocytosis (GO:0072583)|endoplasmic reticulum organization (GO:0007029)|epidermal cell differentiation (GO:0009913)|establishment of skin barrier (GO:0061436)|forebrain morphogenesis (GO:0048853)|Golgi organization (GO:0007030)|intrahepatic bile duct development (GO:0035622)|positive regulation of neural precursor cell proliferation (GO:2000179)	cell junction (GO:0030054)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(16)|skin(7)|urinary_tract(2)	39				Colorectal(103;0.219)		TCTTAAAGTCCCTAAGGACAG	0.443																																						ENST00000314167.4																			0				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(16)|skin(7)|urinary_tract(2)	39						c.e17-1		cyclin G associated kinase							45	47	46					4																	870995		2203	4300	6503	SO:0001630	splice_region_variant	2580				cell cycle	focal adhesion|Golgi apparatus|perinuclear region of cytoplasm	ATP binding|heat shock protein binding|protein serine/threonine kinase activity	g.chr4:870995C>T	D88435	CCDS3340.1	4p16	2011-09-07			ENSG00000178950	ENSG00000178950		"Heat shock proteins / DNAJ (HSP40)"	4113	protein-coding gene	gene with protein product	"auxilin-2"	602052				9299234	Standard	NM_005255		Approved	DNAJC26	uc003gbm.4	O14976	OTTHUMG00000088301	ENST00000314167.4:c.1857-1G>A	4.37:g.870995C>T						GAK_ENST00000511163.1_Splice_Site_p.R540_splice	p.R619_splice	NM_005255.2	NP_005246.2	O14976	GAK_HUMAN		Colorectal(103;0.219)	17	1967	-			619			C2 tensin-type.		Q5U4P5|Q9BVY6	Splice_Site	SNP	ENST00000314167.4	37	c.1856_splice	CCDS3340.1																																																																																				0.443	GAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239188.1	NM_005255	Silent	11	34	0	0	0	1	0	11	34					T	870995	C	T	870995	5	4	390	1	0	0	0	0	0	0	1	0	6195	637	22	3	2126	3	GAK	4	870995	Splice_Site	SNP	C	TCGA-V1-A9OX-01A-11D-A41K-08		870995	190283281	8	19135											
GABRB1	2560	broad.mit.edu	37	chr4	47427842	47427842	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgcaagcccctgagcagccGcgaggcctacgggcgcgccc	6	2	14	19	6	0	1	0	1	0	0	0	2	0	1	6	2	4	2	6	2	2	1			TCGA-V1-A9OX-01A-11D-A41K-08	TCGA-V1-A9OX-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3570cce7-c785-454a-a9bf-95415cc61ddf	23c3b771-9882-4554-9725-6aefa7245627	g.chr4:47427842G>A	ENST00000295454.3	+	9	1524	c.1232G>A	c.(1231-1233)cGc>cAc	p.R411H	GABRB1_ENST00000538619.1_Missense_Mutation_p.R341H	NM_000812.3	NP_000803.2	P18505	GBRB1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 1	411					cellular response to histamine (GO:0071420)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|GABA-A receptor complex (GO:1902711)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)|ligand-gated ion channel activity (GO:0015276)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44					Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Gamma Hydroxybutyric Acid(DB01440)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lindane(DB00431)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	CTGAGCAGCCGCGAGGCCTAC	0.662																																						ENST00000295454.3																			0				central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						c.(1231-1233)cGc>cAc		gamma-aminobutyric acid (GABA) A receptor, beta 1	Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)						37	43	41					4																	47427842		2203	4299	6502	SO:0001583	missense	2560				synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chr4:47427842G>A		CCDS3474.1	4p12	2012-06-22			ENSG00000163288	ENSG00000163288		"GABA receptors", "Ligand-gated ion channels / GABA(A) receptors"	4081	protein-coding gene	gene with protein product	"GABA(A) receptor, beta 1"	137190					Standard	NM_000812		Approved		uc003gxh.3	P18505	OTTHUMG00000044269	ENST00000295454.3:c.1232G>A	4.37:g.47427842G>A	ENSP00000295454:p.Arg411His					GABRB1_ENST00000538619.1_Missense_Mutation_p.R341H	p.R411H	NM_000812.3	NP_000803.2	P18505	GBRB1_HUMAN			9	1524	+			411					B2R6U7|D6REL3|Q16166|Q8TBK3	Missense_Mutation	SNP	ENST00000295454.3	37	c.1232G>A	CCDS3474.1	.	.	.	.	.	.	.	.	.	.	G	14.03	2.413160	0.42817	.	.	ENSG00000163288	ENST00000295454;ENST00000538619	D;D	0.86230	-2.09;-2.09	5.38	5.38	0.77491	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.143817	0.40818	N	0.001013	D	0.90515	0.7028	L	0.56340	1.77	0.48288	D	0.999628	B;D	0.64830	0.043;0.994	B;P	0.56398	0.045;0.797	D	0.90270	0.4307	10	0.52906	T	0.07	-9.3924	19.3205	0.94236	0.0:0.0:1.0:0.0	.	341;411	F5GXV5;P18505	.;GBRB1_HUMAN	H	411;341	ENSP00000295454:R411H;ENSP00000440330:R341H	ENSP00000295454:R411H	R	+	2	0	GABRB1	47122599	1.000000	0.71417	0.997000	0.53966	0.072000	0.16883	6.016000	0.70798	2.803000	0.96430	0.650000	0.86243	CGC		0.662	GABRB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216896.1			3	49	0	0	0	1	0	3	49					A	47427842	G	A	47427842	3	1	390	1	0	0	0	0	1	0	0	0	6166	1087	38	1	1266	1	GABRB1	4	47427842	Missense_Mutation	SNP	G	TCGA-V1-A9OX-01A-11D-A41K-08	46556847	47427842	143726434	9	19136											
PCDHB6	56130	broad.mit.edu	37	chr5	140530897	140530897	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atgtcgttcttcatcagcctCatcccagaaaacttaccaga	12	11	5	13	1	4	2	3	0	1	2	6	2	5	2	3	0	3	1	3	0	3	3			TCGA-V1-A9OX-01A-11D-A41K-08	TCGA-V1-A9OX-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3570cce7-c785-454a-a9bf-95415cc61ddf	23c3b771-9882-4554-9725-6aefa7245627	g.chr5:140530897C>T	ENST00000231136.1	+	1	1059	c.1059C>T	c.(1057-1059)ctC>ctT	p.L353L	PCDHB6_ENST00000543635.1_Silent_p.L217L	NM_018939.2	NP_061762.1	Q9Y5E3	PCDB6_HUMAN	protocadherin beta 6	353	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TCATCAGCCTCATCCCAGAAA	0.458																																						ENST00000231136.1																			0				cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84						c.(1057-1059)ctC>ctT									109	101	104					5																	140530897		2203	4300	6503	SO:0001819	synonymous_variant	0				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	g.chr5:140530897C>T	AF152499	CCDS4248.1	5q31	2010-01-26			ENSG00000113211	ENSG00000113211		"Cadherins / Protocadherins : Clustered"	8691	other	protocadherin		606332				10380929	Standard	NM_018939		Approved	PCDH-BETA6	uc003lir.3	Q9Y5E3	OTTHUMG00000129623	ENST00000231136.1:c.1059C>T	5.37:g.140530897C>T						PCDHB6_ENST00000543635.1_Silent_p.L217L	p.L353L	NM_018939.2	NP_061762.1	Q9Y5E3	PCDB6_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1059	+			353			Cadherin 4.		B2R8R9	Silent	SNP	ENST00000231136.1	37	c.1059C>T	CCDS4248.1																																																																																				0.458	PCDHB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251818.2	NM_018939		13	47	0	0	0	1	0	13	47					T	140530897	C	T	140530897	2	4	390	1	0	0	0	0	0	0	0	1	11546	813	29	3		3	PCDHB6	5	140530897	Silent	SNP	C	TCGA-V1-A9OX-01A-11D-A41K-08		140530897	40384363	10	19137											
SYNGAP1	8831	broad.mit.edu	37	chr6	33411088	33411088	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agacggtgtccctgcccagcAactgcgaatccccctctcct	7	8	8	18	2	1	1	0	0	1	1	4	2	3	1	5	1	4	1	5	1	2	0			TCGA-V1-A9OX-01A-11D-A41K-08	TCGA-V1-A9OX-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3570cce7-c785-454a-a9bf-95415cc61ddf	23c3b771-9882-4554-9725-6aefa7245627	g.chr6:33411088A>C	ENST00000418600.2	+	15	2860	c.2759A>C	c.(2758-2760)cAa>cCa	p.Q920P	SYNGAP1_ENST00000293748.5_Missense_Mutation_p.Q920P|SYNGAP1_ENST00000496374.1_3'UTR|SYNGAP1_ENST00000428982.2_Missense_Mutation_p.Q861P	NM_006772.2	NP_006763.2	Q96PV0	SYGP1_HUMAN	synaptic Ras GTPase activating protein 1	920					dendrite development (GO:0016358)|negative regulation of axonogenesis (GO:0050771)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of Ras protein signal transduction (GO:0046580)|pattern specification process (GO:0007389)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|receptor clustering (GO:0043113)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of MAPK cascade (GO:0043408)|regulation of synapse structure and activity (GO:0050803)|regulation of synaptic plasticity (GO:0048167)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	Rab GTPase activator activity (GO:0005097)|Ras GTPase activator activity (GO:0005099)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(15)|ovary(7)|pancreas(1)|stomach(1)|urinary_tract(1)	43						CCTGCCCAGCAACTGCGAATC	0.677																																						ENST00000418600.2																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(15)|ovary(7)|pancreas(1)|stomach(1)|urinary_tract(1)	43						c.(2758-2760)cAa>cCa		synaptic Ras GTPase activating protein 1							147	141	143					6																	33411088		2203	4300	6503	SO:0001583	missense	8831				negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity|SH3 domain binding	g.chr6:33411088A>C	AB067525	CCDS34434.2	6p21.3	2010-06-25	2010-06-25		ENSG00000197283	ENSG00000197283			11497	protein-coding gene	gene with protein product		603384	"synaptic Ras GTPase activating protein 1 homolog (rat)"			9581761, 18323856	Standard	NM_006772		Approved	SYNGAP, RASA5, KIAA1938	uc011dri.2	Q96PV0	OTTHUMG00000031096	ENST00000418600.2:c.2759A>C	6.37:g.33411088A>C	ENSP00000403636:p.Gln920Pro					SYNGAP1_ENST00000428982.2_Missense_Mutation_p.Q861P|SYNGAP1_ENST00000496374.1_3'UTR|SYNGAP1_ENST00000293748.5_Missense_Mutation_p.Q920P	p.Q920P	NM_006772.2	NP_006763.2	Q96PV0	SYGP1_HUMAN			15	2860	+			920					A2AB17|A2BEL6|A2BEL7|A8MQC4|Q8TCS2|Q9UGE2	Missense_Mutation	SNP	ENST00000418600.2	37	c.2759A>C	CCDS34434.2	.	.	.	.	.	.	.	.	.	.	A	17.90	3.502656	0.64298	.	.	ENSG00000197283	ENST00000293748;ENST00000418600;ENST00000449372;ENST00000428982	T;T;T	0.13538	2.58;2.58;2.58	4.45	4.45	0.53987	.	0.456366	0.20234	N	0.096427	T	0.12347	0.0300	N	0.17082	0.46	0.46131	D	0.998885	D;D;D	0.71674	0.989;0.998;0.998	P;D;D	0.78314	0.834;0.991;0.991	T	0.09058	-1.0692	10	0.52906	T	0.07	.	11.7176	0.51663	1.0:0.0:0.0:0.0	.	920;920;920	Q96PV0;Q96PV0-2;Q96PV0-4	SYGP1_HUMAN;.;.	P	920;920;906;861	ENSP00000293748:Q920P;ENSP00000403636:Q920P;ENSP00000412475:Q861P	ENSP00000293748:Q920P	Q	+	2	0	SYNGAP1	33519066	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	8.323000	0.90002	1.865000	0.54081	0.482000	0.46254	CAA		0.677	SYNGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076151.4	XM_166407		13	178	0	0	0	1	0	13	178					C	33411088	A	C	33411088	3	2	390	1	0	0	0	0	1	0	0	0	15444	130	5	5	2817	5	SYNGAP1	6	33411088	Missense_Mutation	SNP	A	TCGA-V1-A9OX-01A-11D-A41K-08		33411088	137703979	11	19138											
TBX18	9096	broad.mit.edu	37	chr6	85472370	85472370	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gcggcgagggcagaggggtcCcgggccgggccagggagcgc	5	1	23	12	5	0	1	0	0	0	1	1	3	1	2	3	7	1	1	3	7	0	0			TCGA-V1-A9OX-01A-11D-A41K-08	TCGA-V1-A9OX-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3570cce7-c785-454a-a9bf-95415cc61ddf	23c3b771-9882-4554-9725-6aefa7245627	g.chr6:85472370C>G	ENST00000369663.5	-	2	726	c.389G>C	c.(388-390)gGg>gCg	p.G130A	TBX18_ENST00000606521.1_5'UTR|TBX18_ENST00000606784.1_5'UTR	NM_001080508.1	NP_001073977.1	O95935	TBX18_HUMAN	T-box 18	130					anterior/posterior axis specification (GO:0009948)|cochlea morphogenesis (GO:0090103)|morphogenesis of embryonic epithelium (GO:0016331)|negative regulation of canonical Wnt signaling pathway involved in neural plate anterior/posterior pattern formation (GO:0060829)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of mesenchymal cell proliferation involved in ureter development (GO:2000729)|sensory perception of sound (GO:0007605)|sinoatrial node development (GO:0003163)|smooth muscle cell differentiation (GO:0051145)|somitogenesis (GO:0001756)|ureter development (GO:0072189)	nucleus (GO:0005634)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(9)|liver(1)|lung(31)|ovary(2)|pancreas(3)|prostate(6)|skin(3)	61		all_cancers(76;0.000283)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0858)		BRCA - Breast invasive adenocarcinoma(108;0.0267)		CAGAGGGGTCCCGGGCCGGGC	0.697																																						ENST00000369663.5																			0				NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(9)|liver(1)|lung(31)|ovary(2)|pancreas(3)|prostate(6)|skin(3)	61						c.(388-390)gGg>gCg		T-box 18							26	32	30					6																	85472370		2197	4282	6479	SO:0001583	missense	9096				multicellular organismal development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr6:85472370C>G	AJ010278	CCDS34495.1	6q14.1-q15	2012-12-19			ENSG00000112837	ENSG00000112837		"T-boxes"	11595	protein-coding gene	gene with protein product		604613				9888994, 16688725, 23242162	Standard	NM_001080508		Approved		uc003pkl.2	O95935	OTTHUMG00000015129	ENST00000369663.5:c.389G>C	6.37:g.85472370C>G	ENSP00000358677:p.Gly130Ala					TBX18_ENST00000606784.1_5'UTR|TBX18_ENST00000606521.1_5'UTR	p.G130A	NM_001080508.1	NP_001073977.1	O95935	TBX18_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0267)	2	726	-		all_cancers(76;0.000283)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0858)	130					A2RU13|Q7Z6U4|Q9UJI6	Missense_Mutation	SNP	ENST00000369663.5	37	c.389G>C	CCDS34495.1	.	.	.	.	.	.	.	.	.	.	C	2.338	-0.351713	0.05173	.	.	ENSG00000112837	ENST00000416980;ENST00000369663	D	0.86366	-2.11	5.74	3.97	0.46021	.	0.853808	0.10534	N	0.663426	T	0.51736	0.1692	N	0.08118	0	0.19775	N	0.999956	B	0.02656	0.0	B	0.01281	0.0	T	0.41893	-0.9483	10	0.10377	T	0.69	.	9.1127	0.36737	0.1466:0.7765:0.0:0.077	.	130	O95935	TBX18_HUMAN	A	45;130	ENSP00000358677:G130A	ENSP00000358677:G130A	G	-	2	0	TBX18	85529089	0.969000	0.33509	0.985000	0.45067	0.295000	0.27426	0.520000	0.22878	0.789000	0.33779	0.561000	0.74099	GGG		0.697	TBX18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041378.2	NM_001080508		6	19	0	0	0	1	0	6	19					G	85472370	C	G	85472370	3	3	390	1	0	0	0	0	1	0	0	0	15650	623	22	5	1462	5	TBX18	6	85472370	Missense_Mutation	SNP	C	TCGA-V1-A9OX-01A-11D-A41K-08	52061282	85472370	85642697	12	19139											
MUC17	140453	broad.mit.edu	37	chr7	100683876	100683876	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cagcaccacgccagtggccaTtcctgaggctagcacccttt	8	8	9	16	1	0	1	0	1	0	0	1	1	1	1	5	2	2	3	5	2	1	3	rs145514577		TCGA-V1-A9OX-01A-11D-A41K-08	TCGA-V1-A9OX-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3570cce7-c785-454a-a9bf-95415cc61ddf	23c3b771-9882-4554-9725-6aefa7245627	g.chr7:100683876T>G	ENST00000306151.4	+	3	9243	c.9179T>G	c.(9178-9180)aTt>aGt	p.I3060S		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	3060	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CCAGTGGCCATTCCTGAGGCT	0.493													G|||	1	0.000199681	0	0	5008	,	,		25521	0		0.001	False		,,,				2504	0					ENST00000306151.4																			0				NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343						c.(9178-9180)aTt>aGt		mucin 17, cell surface associated							275	283	280					7																	100683876		2203	4300	6503	SO:0001583	missense	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100683876T>G	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"Mucins"	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.9179T>G	7.37:g.100683876T>G	ENSP00000302716:p.Ile3060Ser						p.I3060S	NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN			3	9243	+	Lung NSC(181;0.136)|all_lung(186;0.182)		3060			59 X approximate tandem repeats.|Ser-rich.		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	c.9179T>G	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	N	0.327	-0.958208	0.02267	.	.	ENSG00000169876	ENST00000306151	T	0.02197	4.4	0.814	-0.258	0.12975	.	.	.	.	.	T	0.00998	0.0033	N	0.03608	-0.345	0.09310	N	1	B	0.10296	0.003	B	0.06405	0.002	T	0.48681	-0.9014	9	0.17369	T	0.5	.	3.7091	0.08413	0.0:0.5408:0.2591:0.2001	.	3060	Q685J3	MUC17_HUMAN	S	3060	ENSP00000302716:I3060S	ENSP00000302716:I3060S	I	+	2	0	MUC17	100470596	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-4.610000	0.00209	-0.661000	0.05345	-2.058000	0.00401	ATT		0.493	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		4	188	0	0	0	1	0	4	188					G	100683876	T	G	100683876	3	3	390	1	0	0	0	0	1	0	0	0	9974	1493	52	5	9189	5	MUC17	7	100683876	Missense_Mutation	SNP	T	TCGA-V1-A9OX-01A-11D-A41K-08		100683876	58454787	13	19140											
MLL3	58508	broad.mit.edu	37	chr7	151874265	151874265	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caagttctggatctgtatatGcaatgatatcaaactctcct	12	14	6	9	0	4	1	1	1	3	0	5	2	4	2	1	1	2	3	1	1	6	4			TCGA-V1-A9OX-01A-11D-A41K-08	TCGA-V1-A9OX-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3570cce7-c785-454a-a9bf-95415cc61ddf	23c3b771-9882-4554-9725-6aefa7245627	g.chr7:151874265G>A	ENST00000262189.6	-	38	8491	c.8273C>T	c.(8272-8274)gCa>gTa	p.A2758V	KMT2C_ENST00000355193.2_Missense_Mutation_p.A2758V	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	2758	Asp-rich.				histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										ATCTGTATATGCAATGATATC	0.368																																						ENST00000355193.2																			0											c.(8272-8274)gCa>gTa		lysine (K)-specific methyltransferase 2C							118	117	117					7																	151874265		2203	4299	6502	SO:0001583	missense	58508							g.chr7:151874265G>A	AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	13726	protein-coding gene	gene with protein product		606833	"myeloid/lymphoid or mixed-lineage leukemia 3"	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.8273C>T	7.37:g.151874265G>A	ENSP00000262189:p.Ala2758Val					KMT2C_ENST00000262189.6_Missense_Mutation_p.A2758V	p.A2758V							38	8491	-								Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Missense_Mutation	SNP	ENST00000262189.6	37	c.8273C>T	CCDS5931.1	.	.	.	.	.	.	.	.	.	.	G	19.12	3.766290	0.69878	.	.	ENSG00000055609	ENST00000262189;ENST00000355193	D;D	0.95001	-3.58;-3.52	5.54	5.54	0.83059	.	0.000000	0.46145	D	0.000316	D	0.97303	0.9118	M	0.77103	2.36	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.996;0.997;0.998	D	0.97697	1.0182	10	0.87932	D	0	.	19.4777	0.94995	0.0:0.0:1.0:0.0	.	2758;1819;2758	Q8NEZ4;Q8NEZ4-2;Q8NEZ4-3	MLL3_HUMAN;.;.	V	2758	ENSP00000262189:A2758V;ENSP00000347325:A2758V	ENSP00000262189:A2758V	A	-	2	0	MLL3	151505198	1.000000	0.71417	0.957000	0.39632	0.944000	0.59088	9.869000	0.99810	2.592000	0.87571	0.650000	0.86243	GCA		0.368	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3			7	94	0	0	0	1	0	7	94					A	151874265	G	A	151874265	3	1	390	1	0	0	0	0	1	0	0	0	9622	1319	46	3	6550	3	MLL3	7	151874265	Missense_Mutation	SNP	G	TCGA-V1-A9OX-01A-11D-A41K-08	51190389	151874265	7264398	14	19141											
RP1	6101	broad.mit.edu	37	chr8	55537426	55537426	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaattatttttaatcaagaCggcactatgacagttgagat	14	14	7	6	1	2	3	2	2	0	2	2	4	2	3	0	1	0	2	0	1	5	6			TCGA-V1-A9OX-01A-11D-A41K-08	TCGA-V1-A9OX-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3570cce7-c785-454a-a9bf-95415cc61ddf	23c3b771-9882-4554-9725-6aefa7245627	g.chr8:55537426C>T	ENST00000220676.1	+	4	1132	c.984C>T	c.(982-984)gaC>gaT	p.D328D		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	328					axoneme assembly (GO:0035082)|cellular response to light stimulus (GO:0071482)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|photoreceptor cell outer segment organization (GO:0035845)|phototransduction, visible light (GO:0007603)|retinal cone cell development (GO:0046549)|retinal rod cell development (GO:0046548)|visual perception (GO:0007601)	axoneme (GO:0005930)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)	microtubule binding (GO:0008017)			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			TTAATCAAGACGGCACTATGA	0.323																																					Colon(91;1014 1389 7634 14542 40420)	ENST00000220676.1																			0				NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169						c.(982-984)gaC>gaT		retinitis pigmentosa 1 (autosomal dominant)							64	65	65					8																	55537426		2203	4299	6502	SO:0001819	synonymous_variant	6101				axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding	g.chr8:55537426C>T	AF146592	CCDS6160.1	8q12.1	2013-01-08				ENSG00000104237			10263	protein-coding gene	gene with protein product		603937				1783394	Standard	NM_006269		Approved	DCDC4A	uc003xsd.1	P56715		ENST00000220676.1:c.984C>T	8.37:g.55537426C>T							p.D328D	NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)		4	1132	+		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	328						Silent	SNP	ENST00000220676.1	37	c.984C>T	CCDS6160.1																																																																																				0.323	RP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378532.2	NM_006269		3	39	0	0	0	1	0	3	39					T	55537426	C	T	55537426	2	4	390	1	0	0	0	0	0	0	0	1	13532	535	19	1		1	RP1	8	55537426	Silent	SNP	C	TCGA-V1-A9OX-01A-11D-A41K-08		55537426	90826596	15	19142											
ZNF365	22891	broad.mit.edu	37	chr10	64136655	64136655	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgatagctgtactgaggcaaCgcctgacggaatctgaggag	11	8	14	8	2	1	4	0	4	1	0	1	6	1	6	1	3	3	3	1	3	4	2			TCGA-V1-A9OX-01A-11D-A41K-08	TCGA-V1-A9OX-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3570cce7-c785-454a-a9bf-95415cc61ddf	23c3b771-9882-4554-9725-6aefa7245627	g.chr10:64136655C>T	ENST00000395254.3	+	2	983	c.703C>T	c.(703-705)Cgc>Tgc	p.R235C	ZNF365_ENST00000395255.3_Missense_Mutation_p.R235C|ZNF365_ENST00000410046.3_Missense_Mutation_p.R235C|ZNF365_ENST00000466727.1_Intron	NM_014951.2	NP_055766.2	Q70YC4	TALAN_HUMAN	zinc finger protein 365	0										breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27	Prostate(12;0.0297)|all_hematologic(501;0.228)					ACTGAGGCAACGCCTGACGGA	0.517																																						ENST00000395254.3																			0				breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						c.(703-705)Cgc>Tgc		zinc finger protein 365							74	82	79					10																	64136655		2203	4300	6503	SO:0001583	missense	22891							g.chr10:64136655C>T	AB020651	CCDS7264.1, CCDS7265.1, CCDS31209.1, CCDS41531.1	10q21.2	2008-10-28			ENSG00000138311	ENSG00000138311		"Zinc fingers, C2H2-type"	18194	protein-coding gene	gene with protein product	"Talanin"	607818				10048485, 12740763	Standard	NM_199450		Approved	KIAA0844, UAN	uc001jmc.2	Q70YC4	OTTHUMG00000018302	ENST00000395254.3:c.703C>T	10.37:g.64136655C>T	ENSP00000378674:p.Arg235Cys					ZNF365_ENST00000395255.3_Missense_Mutation_p.R235C|ZNF365_ENST00000466727.1_Intron|ZNF365_ENST00000410046.3_Missense_Mutation_p.R235C	p.R235C	NM_014951.2	NP_055766.2	Q70YC4	TALAN_HUMAN			2	983	+	Prostate(12;0.0297)|all_hematologic(501;0.228)		0						Missense_Mutation	SNP	ENST00000395254.3	37	c.703C>T	CCDS31209.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.121915	0.77436	.	.	ENSG00000138311	ENST00000395254;ENST00000395255;ENST00000410046	T;T;T	0.36157	1.27;1.27;1.27	5.73	4.83	0.62350	.	0.241182	0.37095	N	0.002244	T	0.56572	0.1994	M	0.67953	2.075	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;0.999;0.999	D;P;P;D	0.65773	0.938;0.855;0.87;0.917	T	0.61237	-0.7103	10	0.72032	D	0.01	.	14.5855	0.68320	0.0:0.93:0.0:0.07	.	235;235;235;250	Q70YC5-3;Q70YC5-2;Q70YC5;Q70YC5-4	.;.;ZN365_HUMAN;.	C	235	ENSP00000378674:R235C;ENSP00000378675:R235C;ENSP00000387091:R235C	ENSP00000378674:R235C	R	+	1	0	ZNF365	63806661	1.000000	0.71417	0.981000	0.43875	0.726000	0.41606	4.912000	0.63335	1.426000	0.47256	0.555000	0.69702	CGC		0.517	ZNF365-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048238.2	NM_014951		13	52	0	0	0	1	0	13	52					T	64136655	C	T	64136655	3	4	390	1	0	0	0	0	1	0	0	0	17866	536	19	1	705	1	ZNF365	10	64136655	Missense_Mutation	SNP	C	TCGA-V1-A9OX-01A-11D-A41K-08		64136655	71398092	16	19143											
TRIM5	85363	broad.mit.edu	37	chr11	5686494	5686494	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggatgccagtacaataatTgaaattcacaaatgtctggt	15	11	8	7	0	2	1	1	1	1	0	2	2	2	2	1	2	2	1	1	2	5	4			TCGA-V1-A9OX-01A-11D-A41K-08	TCGA-V1-A9OX-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3570cce7-c785-454a-a9bf-95415cc61ddf	23c3b771-9882-4554-9725-6aefa7245627	g.chr11:5686494T>A	ENST00000380034.3	-	8	1283	c.1027A>T	c.(1027-1029)Aat>Tat	p.N343Y	TRIM5_ENST00000396855.3_Intron|TRIM5_ENST00000396847.3_3'UTR|TRIM5_ENST00000305836.5_Missense_Mutation_p.N343Y|TRIM5_ENST00000380027.1_Intron|TRIM5_ENST00000483835.1_5'UTR|TRIM5_ENST00000396853.4_Intron	NM_033034.2|NM_033092.2	NP_149023.2|NP_149083.2	Q9C035	TRIM5_HUMAN	tripartite motif containing 5	343	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				activation of innate immune response (GO:0002218)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of viral entry into host cell (GO:0046597)|negative regulation of viral release from host cell (GO:1902187)|pattern recognition receptor signaling pathway (GO:0002221)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein K63-linked ubiquitination (GO:0070534)|protein trimerization (GO:0070206)|regulation of lipopolysaccharide-mediated signaling pathway (GO:0031664)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	identical protein binding (GO:0042802)|ligase activity (GO:0016874)|protein homodimerization activity (GO:0042803)|signaling pattern recognition receptor activity (GO:0008329)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)|Lung NSC(207;0.138)|all_lung(207;0.221)		Epithelial(150;7.21e-09)|BRCA - Breast invasive adenocarcinoma(625;0.139)		GTACAATAATTGAAATTCACA	0.443																																						ENST00000305836.5																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21						c.(1027-1029)Aat>Tat		tripartite motif containing 5							98	94	95					11																	5686494		2201	4297	6498	SO:0001583	missense	85363				interspecies interaction between organisms|protein trimerization|response to virus	cytoplasm|cytoplasmic mRNA processing body	ligase activity|protein binding|protein homodimerization activity|zinc ion binding	g.chr11:5686494T>A	AF220025	CCDS31392.1, CCDS31393.1, CCDS31394.1	11p15	2014-06-03	2011-01-25		ENSG00000132256	ENSG00000132256		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	16276	protein-coding gene	gene with protein product	"tripartite motif protein TRIM5", "tripartite motif protein TRIM"	608487	"tripartite motif-containing 5"			11331580	Standard	NM_033034		Approved	RNF88, TRIM5alpha	uc001mbm.2	Q9C035	OTTHUMG00000066893	ENST00000380034.3:c.1027A>T	11.37:g.5686494T>A	ENSP00000369373:p.Asn343Tyr					TRIM5_ENST00000483835.1_5'UTR|TRIM5_ENST00000380027.1_Intron|TRIM5_ENST00000396853.4_Intron|TRIM5_ENST00000396847.3_3'UTR|TRIM5_ENST00000396855.3_Intron|TRIM5_ENST00000380034.3_Missense_Mutation_p.N343Y	p.N343Y			Q9C035	TRIM5_HUMAN		Epithelial(150;7.21e-09)|BRCA - Breast invasive adenocarcinoma(625;0.139)	8	1329	-		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)|Lung NSC(207;0.138)|all_lung(207;0.221)	343			B30.2/SPRY.		A6NGQ1|A8WFA8|D3DQS8|D3DQS9|G3GJY1|Q2MLV4|Q2MLV8|Q2MLV9|Q2MLW1|Q2MLW3|Q2MLW4|Q2MLW6|Q2MLW7|Q2MLX1|Q2MLX2|Q2MLX3|Q2MLX5|Q2MLY3|Q2MLY4|Q2V6Q6|Q6GX26|Q8WU46|Q96SR5|Q9C031|Q9C032|Q9C033|Q9C034	Missense_Mutation	SNP	ENST00000380034.3	37	c.1027A>T	CCDS31393.1	.	.	.	.	.	.	.	.	.	.	T	3.198	-0.164312	0.06502	.	.	ENSG00000132256	ENST00000305836;ENST00000380034	T;T	0.60424	0.19;0.19	1.53	-3.05	0.05396	Concanavalin A-like lectin/glucanase (1);B30.2/SPRY domain (1);	2.123210	0.02827	N	0.126339	T	0.33673	0.0871	N	0.04148	-0.265	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.17715	-1.0360	10	0.30078	T	0.28	.	7.7767	0.29041	0.0:0.6417:0.0:0.3583	.	343	Q9C035	TRIM5_HUMAN	Y	343	ENSP00000307031:N343Y;ENSP00000369373:N343Y	ENSP00000307031:N343Y	N	-	1	0	TRIM5	5643070	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.223000	0.09177	-1.509000	0.01798	-0.464000	0.05259	AAT		0.443	TRIM5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000143360.3	NM_033034		24	98	0	0	0	1	0	24	98					A	5686494	T	A	5686494	3	1	390	1	0	0	0	0	1	0	0	0	16522	1812	63	5	548	5	TRIM5	11	5686494	Missense_Mutation	SNP	T	TCGA-V1-A9OX-01A-11D-A41K-08		5686494	129320022	17	19144											
OR4C11	219429	broad.mit.edu	37	chr11	55371016	55371016	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tagatgagtggattgagaaaGggtgttccaatagtataaaa	16	11	12	2	0	0	3	0	2	0	2	1	5	1	4	1	2	0	2	1	2	7	6			TCGA-V1-A9OX-01A-11D-A41K-08	TCGA-V1-A9OX-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3570cce7-c785-454a-a9bf-95415cc61ddf	23c3b771-9882-4554-9725-6aefa7245627	g.chr11:55371016G>T	ENST00000302231.4	-	1	858	c.834C>A	c.(832-834)ccC>ccA	p.P278P		NM_001004700.2	NP_001004700.2	Q6IEV9	OR4CB_HUMAN	olfactory receptor, family 4, subfamily C, member 11	278						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(1)|large_intestine(5)|lung(23)|ovary(1)|prostate(1)|skin(1)	33						GATTGAGAAAGGGTGTTCCAA	0.393																																						ENST00000302231.4																			0				endometrium(1)|kidney(1)|large_intestine(5)|lung(23)|ovary(1)|prostate(1)|skin(1)	33						c.(832-834)ccC>ccA		olfactory receptor, family 4, subfamily C, member 11							68	60	63					11																	55371016		2178	4002	6180	SO:0001819	synonymous_variant	219429				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55371016G>T	AB065774	CCDS31503.1	11q11	2012-08-09		2004-03-10	ENSG00000172188	ENSG00000172188		"GPCR / Class A : Olfactory receptors"	15167	protein-coding gene	gene with protein product				OR4C11P			Standard	NM_001004700		Approved		uc010rii.2	Q6IEV9	OTTHUMG00000165290	ENST00000302231.4:c.834C>A	11.37:g.55371016G>T							p.P278P	NM_001004700.2	NP_001004700.2	Q6IEV9	OR4CB_HUMAN			1	858	-			278					B9EIL4|Q8NGL8	Silent	SNP	ENST00000302231.4	37	c.834C>A	CCDS31503.1																																																																																				0.393	OR4C11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383268.1	NM_001004700		16	56	1	0	8.00594e-06	1	8.36176e-06	16	56					T	55371016	G	T	55371016	2	4	390	1	0	0	0	0	0	0	0	1	11045	987	35	5		5	OR4C11	11	55371016	Silent	SNP	G	TCGA-V1-A9OX-01A-11D-A41K-08	49684522	55371016	79635500	18	19145											
BTG4	54766	broad.mit.edu	37	chr11	111368082	111368082	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	ttgatatagttcccattcctCccatctgcctttaaaagaag	11	14	5	11	0	1	2	0	1	1	1	4	2	4	2	4	0	1	1	4	0	5	7			TCGA-V1-A9OX-01A-11D-A41K-08	TCGA-V1-A9OX-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3570cce7-c785-454a-a9bf-95415cc61ddf	23c3b771-9882-4554-9725-6aefa7245627	g.chr11:111368082C>G	ENST00000356018.2	-	4	563	c.364G>C	c.(364-366)Gag>Cag	p.E122Q	BTG4_ENST00000525791.1_Missense_Mutation_p.E122Q	NM_017589.3	NP_060059.1	Q9NY30	BTG4_HUMAN	B-cell translocation gene 4	122					cell cycle arrest (GO:0007050)|negative regulation of cell proliferation (GO:0008285)|negative regulation of mitotic cell cycle (GO:0045930)|neuron differentiation (GO:0030182)					large_intestine(2)|upper_aerodigestive_tract(1)	3		all_cancers(61;3.78e-13)|all_epithelial(67;5.29e-08)|Melanoma(852;3.15e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0204)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		Epithelial(105;1.22e-06)|BRCA - Breast invasive adenocarcinoma(274;1.72e-06)|all cancers(92;2.18e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0509)		TCCCATTCCTCCCATCTGCCT	0.393																																						ENST00000525791.1																			0				large_intestine(2)|upper_aerodigestive_tract(1)	3						c.(364-366)Gag>Cag		B-cell translocation gene 4							107	103	104					11																	111368082		2201	4297	6498	SO:0001583	missense	54766				cell cycle arrest|negative regulation of cell proliferation|neuron differentiation			g.chr11:111368082C>G	AJ271351	CCDS8346.1	11q23	2008-05-27				ENSG00000137707			13862	protein-coding gene	gene with protein product		605673				10995567	Standard	NM_017589		Approved	PC3B	uc001plj.3	Q9NY30		ENST00000356018.2:c.364G>C	11.37:g.111368082C>G	ENSP00000348300:p.Glu122Gln					BTG4_ENST00000356018.2_Missense_Mutation_p.E122Q	p.E122Q			Q9NY30	BTG4_HUMAN		Epithelial(105;1.22e-06)|BRCA - Breast invasive adenocarcinoma(274;1.72e-06)|all cancers(92;2.18e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0509)	4	548	-		all_cancers(61;3.78e-13)|all_epithelial(67;5.29e-08)|Melanoma(852;3.15e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0204)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)	122					Q8NEH7	Missense_Mutation	SNP	ENST00000356018.2	37	c.364G>C	CCDS8346.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.013801	0.75161	.	.	ENSG00000137707	ENST00000356018;ENST00000525791;ENST00000456861	.	.	.	5.21	5.21	0.72293	.	10.356700	0.05402	U	0.540893	T	0.72526	0.3471	M	0.73962	2.25	0.29790	N	0.833315	D;D	0.63046	0.992;0.991	P;P	0.58520	0.84;0.606	T	0.63761	-0.6564	9	0.29301	T	0.29	.	17.3406	0.87294	0.0:1.0:0.0:0.0	.	122;122	Q8NEH7;Q9NY30	.;BTG4_HUMAN	Q	122	.	ENSP00000348300:E122Q	E	-	1	0	BTG4	110873292	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	2.239000	0.43079	2.428000	0.82296	0.650000	0.86243	GAG		0.393	BTG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391177.1			8	49	0	0	0	1	0	8	49					G	111368082	C	G	111368082	3	3	390	1	0	0	0	0	1	0	0	0	1556	864	30	5	319	5	BTG4	11	111368082	Missense_Mutation	SNP	C	TCGA-V1-A9OX-01A-11D-A41K-08	55997066	111368082	23638434	19	19146											
A2M	2	broad.mit.edu	37	chr12	9230011	9230011	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agggtcacttcatcttctacTcctccctgtgaatacgagag	9	12	8	12	1	4	2	2	1	2	1	6	3	6	2	2	1	2	0	2	1	3	4			TCGA-V1-A9OX-01A-11D-A41K-08	TCGA-V1-A9OX-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3570cce7-c785-454a-a9bf-95415cc61ddf	23c3b771-9882-4554-9725-6aefa7245627	g.chr12:9230011T>G	ENST00000318602.7	-	27	3589	c.3282A>C	c.(3280-3282)ggA>ggC	p.G1094G	A2M_ENST00000542567.1_5'Flank	NM_000014.4	NP_000005	P01023	A2MG_HUMAN	alpha-2-macroglobulin	1094					blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of complement activation, lectin pathway (GO:0001869)|negative regulation of endopeptidase activity (GO:0010951)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|stem cell differentiation (GO:0048863)	blood microparticle (GO:0072562)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule lumen (GO:0031093)	calcium-dependent protein binding (GO:0048306)|enzyme binding (GO:0019899)|growth factor binding (GO:0019838)|interleukin-1 binding (GO:0019966)|interleukin-8 binding (GO:0019959)|protease binding (GO:0002020)|receptor binding (GO:0005102)|serine-type endopeptidase inhibitor activity (GO:0004867)|tumor necrosis factor binding (GO:0043120)			breast(1)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(17)|lung(30)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	77					Bacitracin(DB00626)|Becaplermin(DB00102)|Ocriplasmin(DB08888)	CATCTTCTACTCCTCCCTGTG	0.448																																						ENST00000318602.7																			0				breast(1)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(17)|lung(30)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	77						c.(3280-3282)ggA>ggC		alpha-2-macroglobulin	Bacitracin(DB00626)|Becaplermin(DB00102)						92	93	93					12																	9230011		2192	4299	6491	SO:0001819	synonymous_variant	2				blood coagulation, intrinsic pathway|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|extracellular space|platelet alpha granule lumen	enzyme binding|GTPase activator activity|interleukin-1 binding|interleukin-8 binding|serine-type endopeptidase inhibitor activity|tumor necrosis factor binding	g.chr12:9230011T>G	BX647329, X68728, M11313	CCDS44827.1	12p13.31	2010-02-24			ENSG00000175899	ENSG00000175899			7	protein-coding gene	gene with protein product		103950					Standard	XM_006719056		Approved	FWP007, S863-7, CPAMD5	uc001qvk.1	P01023	OTTHUMG00000150267	ENST00000318602.7:c.3282A>C	12.37:g.9230011T>G							p.G1094G	NM_000014.4	NP_000005.2	P01023	A2MG_HUMAN			27	3589	-			1094					Q13677|Q59F47|Q5QTS0|Q68DN2|Q6PIY3|Q6PN97	Silent	SNP	ENST00000318602.7	37	c.3282A>C	CCDS44827.1																																																																																				0.448	A2M-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317233.2	NM_000014		3	9	0	0	0	1	0	3	9					G	9230011	T	G	9230011	2	3	390	1	0	0	0	0	0	0	0	1	4	1538	54	5		5	A2M	12	9230011	Silent	SNP	T	TCGA-V1-A9OX-01A-11D-A41K-08		9230011	124621884	20	19147											
CCT2	10576	broad.mit.edu	37	chr12	69981294	69981294	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttccctttaggacaaaattCttctaagcagtggacgagat	12	12	9	8	1	2	1	0	0	2	1	3	4	3	3	1	2	1	2	1	2	4	6			TCGA-V1-A9OX-01A-11D-A41K-08	TCGA-V1-A9OX-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3570cce7-c785-454a-a9bf-95415cc61ddf	23c3b771-9882-4554-9725-6aefa7245627	g.chr12:69981294C>A	ENST00000299300.6	+	4	342	c.154C>A	c.(154-156)Ctt>Att	p.L52I	MIR3913-2_ENST00000577744.1_RNA|CCT2_ENST00000543146.2_Missense_Mutation_p.L5I|CCT2_ENST00000544368.2_Missense_Mutation_p.L52I	NM_006431.2	NP_006422.1	P78371	TCPB_HUMAN	chaperonin containing TCP1, subunit 2 (beta)	52					'de novo' posttranslational protein folding (GO:0051084)|binding of sperm to zona pellucida (GO:0007339)|cellular protein metabolic process (GO:0044267)|chaperone-mediated protein complex assembly (GO:0051131)|protein folding (GO:0006457)	cell body (GO:0044297)|chaperonin-containing T-complex (GO:0005832)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|zona pellucida receptor complex (GO:0002199)	ATP binding (GO:0005524)|unfolded protein binding (GO:0051082)			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(2)|stomach(1)	24	all_cancers(2;7.7e-106)|Breast(13;2.15e-06)|Esophageal squamous(21;0.187)		Epithelial(6;2.72e-18)|GBM - Glioblastoma multiforme(2;2.58e-10)|Lung(24;0.000185)|OV - Ovarian serous cystadenocarcinoma(12;0.00126)|STAD - Stomach adenocarcinoma(21;0.00501)|Kidney(9;0.143)|LUSC - Lung squamous cell carcinoma(43;0.24)			GGACAAAATTCTTCTAAGCAG	0.378																																						ENST00000543146.2																			0				central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(2)|stomach(1)	24						c.(13-15)Ctt>Att		chaperonin containing TCP1, subunit 2 (beta)							92	81	85					12																	69981294		2203	4300	6503	SO:0001583	missense	10576				'de novo' posttranslational protein folding	nucleus	ATP binding|unfolded protein binding	g.chr12:69981294C>A	AF026293	CCDS8991.1, CCDS55843.1	12q14	2011-09-02						"Heat Shock Proteins / Chaperonins"	1615	protein-coding gene	gene with protein product		605139				9819444	Standard	NM_001198842		Approved	Cctb	uc001svb.1	P78371	OTTHUMG00000169383	ENST00000299300.6:c.154C>A	12.37:g.69981294C>A	ENSP00000299300:p.Leu52Ile					CCT2_ENST00000299300.6_Missense_Mutation_p.L52I|CCT2_ENST00000544368.2_Missense_Mutation_p.L52I	p.L5I	NM_001198842.1	NP_001185771.1	P78371	TCPB_HUMAN	Epithelial(6;2.72e-18)|GBM - Glioblastoma multiforme(2;2.58e-10)|Lung(24;0.000185)|OV - Ovarian serous cystadenocarcinoma(12;0.00126)|STAD - Stomach adenocarcinoma(21;0.00501)|Kidney(9;0.143)|LUSC - Lung squamous cell carcinoma(43;0.24)		4	495	+	all_cancers(2;7.7e-106)|Breast(13;2.15e-06)|Esophageal squamous(21;0.187)		52					A8K402|B5BTY7|B7Z243|B7Z7K4|B7ZAT2|Q14D36|Q6IAT3	Missense_Mutation	SNP	ENST00000299300.6	37	c.13C>A	CCDS8991.1	.	.	.	.	.	.	.	.	.	.	C	17.19	3.325473	0.60743	.	.	ENSG00000166226	ENST00000299300;ENST00000544368;ENST00000543146	D;D;D	0.81499	-1.5;-1.5;-1.5	6.06	5.18	0.71444	Chaperonin TCP-1, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.86481	0.5943	L	0.51422	1.61	0.58432	D	0.999999	D;D	0.71674	0.997;0.998	D;D	0.83275	0.996;0.995	D	0.85839	0.1396	9	.	.	.	-24.2385	15.0874	0.72165	0.0:0.9317:0.0:0.0683	.	52;52	F5GWF6;P78371	.;TCPB_HUMAN	I	52;52;5	ENSP00000299300:L52I;ENSP00000441847:L52I;ENSP00000445471:L5I	.	L	+	1	0	CCT2	68267561	1.000000	0.71417	0.991000	0.47740	0.960000	0.62799	2.150000	0.42254	1.582000	0.49881	0.650000	0.86243	CTT		0.378	CCT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403818.1	NM_006431		5	33	1	0	0.184627	1	0.184627	5	33					A	69981294	C	A	69981294	3	1	390	1	0	0	0	0	1	0	0	0	2953	913	32	5	168	5	CCT2	12	69981294	Missense_Mutation	SNP	C	TCGA-V1-A9OX-01A-11D-A41K-08	60751283	69981294	63870601	21	19148											
MYO1H	283446	broad.mit.edu	37	chr12	109874335	109874335	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	caaacgctgcctaggaaggaGagaatacgtgaaaaaaagac	19	4	11	7	2	0	3	0	1	0	2	0	6	0	5	1	2	3	1	1	2	8	2			TCGA-V1-A9OX-01A-11D-A41K-08	TCGA-V1-A9OX-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3570cce7-c785-454a-a9bf-95415cc61ddf	23c3b771-9882-4554-9725-6aefa7245627	g.chr12:109874335G>C	ENST00000431443.2	+	21	2165	c.2165G>C	c.(2164-2166)aGa>aCa	p.R722T	MYO1H_ENST00000310903.5_Missense_Mutation_p.R712T	NM_001101421.3	NP_001094891.3	Q8N1T3	MYO1H_HUMAN	myosin IH	722	IQ 1. {ECO:0000255|PROSITE- ProRule:PRU00116}.					myosin complex (GO:0016459)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(17)|prostate(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	47						CTAGGAAGGAGAGAATACGTG	0.403																																						ENST00000310903.5																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(17)|prostate(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	47						c.(2134-2136)aGa>aCa		myosin IH							68	66	67					12																	109874335		1923	4135	6058	SO:0001583	missense	283446					myosin complex	motor activity	g.chr12:109874335G>C		CCDS53826.1	12q24.11	2011-09-27			ENSG00000174527	ENSG00000174527		"Myosins / Myosin superfamily : Class I"	13879	protein-coding gene	gene with protein product		614636					Standard	NM_001101421		Approved	FLJ37587	uc010sxn.1	Q8N1T3	OTTHUMG00000169252	ENST00000431443.2:c.2165G>C	12.37:g.109874335G>C	ENSP00000444076:p.Arg722Thr					MYO1H_ENST00000431443.2_Missense_Mutation_p.R722T	p.R712T			B4DNW6	B4DNW6_HUMAN			22	2241	+			0					F5H3C6	Missense_Mutation	SNP	ENST00000431443.2	37	c.2135G>C		.	.	.	.	.	.	.	.	.	.	G	10.69	1.422531	0.25639	.	.	ENSG00000174527	ENST00000310903;ENST00000431443	T;T	0.73469	-0.75;-0.75	4.95	4.95	0.65309	.	.	.	.	.	T	0.78723	0.4328	M	0.66939	2.045	0.41095	D	0.985626	P	0.51791	0.948	P	0.50708	0.648	T	0.78427	-0.2208	9	0.33141	T	0.24	.	15.6892	0.77436	0.0:0.0:1.0:0.0	.	712	F5H3C6	.	T	712;722	ENSP00000439182:R712T;ENSP00000444076:R722T	ENSP00000439182:R712T	R	+	2	0	MYO1H	108358718	1.000000	0.71417	0.225000	0.23894	0.044000	0.14063	3.763000	0.55257	2.298000	0.77334	0.655000	0.94253	AGA		0.403	MYO1H-201	KNOWN	basic	protein_coding	protein_coding		NM_173597		4	10	0	0	0	1	0	4	10					C	109874335	G	C	109874335	3	2	390	1	0	0	0	0	1	0	0	0	10075	942	33	5	2217	5	MYO1H	12	109874335	Missense_Mutation	SNP	G	TCGA-V1-A9OX-01A-11D-A41K-08	39893041	109874335	23977560	22	19149											
SMAD9	4093	broad.mit.edu	37	chr13	37453545	37453545	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agatccggccagcgccacacGcgacagtaaatcacatgggg	12	4	12	13	4	1	1	1	0	0	1	2	2	2	1	3	3	1	1	3	3	2	1			TCGA-V1-A9OX-01A-11D-A41K-08	TCGA-V1-A9OX-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3570cce7-c785-454a-a9bf-95415cc61ddf	23c3b771-9882-4554-9725-6aefa7245627	g.chr13:37453545G>A	ENST00000399275.2	-	1	421	c.282C>T	c.(280-282)cgC>cgT	p.R94R	SMAD9_ENST00000350148.5_Silent_p.R94R|SMAD9_ENST00000483941.1_5'Flank|SMAD9_ENST00000379826.4_Silent_p.R94R			O15198	SMAD9_HUMAN	SMAD family member 9	94	MH1. {ECO:0000255|PROSITE- ProRule:PRU00438}.				BMP signaling pathway (GO:0030509)|bone development (GO:0060348)|cartilage development (GO:0051216)|cellular response to organic cyclic compound (GO:0071407)|hindbrain development (GO:0030902)|intracellular signal transduction (GO:0035556)|midbrain development (GO:0030901)|Mullerian duct regression (GO:0001880)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|response to hypoxia (GO:0001666)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ureteric bud development (GO:0001657)	cytosol (GO:0005829)|intracellular (GO:0005622)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity (GO:0030618)			NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)	18		Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.184)		all cancers(112;3.38e-07)|Epithelial(112;1.93e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00804)|BRCA - Breast invasive adenocarcinoma(63;0.0129)|GBM - Glioblastoma multiforme(144;0.026)		AGCGCCACACGCGACAGTAAA	0.632																																						ENST00000379826.4																			0				NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)	18						c.(280-282)cgC>cgT		SMAD family member 9							35	37	36					13																	37453545		2203	4300	6503	SO:0001819	synonymous_variant	4093				BMP signaling pathway|transforming growth factor beta receptor signaling pathway	cytosol|transcription factor complex	sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity	g.chr13:37453545G>A		CCDS9360.1, CCDS45032.1	13q12-q14	2014-09-17	2006-11-06	2004-05-26	ENSG00000120693	ENSG00000120693		"SMADs"	6774	protein-coding gene	gene with protein product		603295	"MAD, mothers against decapentaplegic homolog 9 (Drosophila)", "SMAD, mothers against DPP homolog 9 (Drosophila)"	MADH6, MADH9		9205116	Standard	NM_001127217		Approved		uc001uvw.3	O15198	OTTHUMG00000016740	ENST00000399275.2:c.282C>T	13.37:g.37453545G>A						SMAD9_ENST00000350148.5_Silent_p.R94R|SMAD9_ENST00000399275.2_Silent_p.R94R	p.R94R	NM_001127217.2	NP_001120689.1	O15198	SMAD9_HUMAN		all cancers(112;3.38e-07)|Epithelial(112;1.93e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00804)|BRCA - Breast invasive adenocarcinoma(63;0.0129)|GBM - Glioblastoma multiforme(144;0.026)	2	624	-		Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.184)	94			MH1.		A2A2Y6|O14989|Q5TBA1	Silent	SNP	ENST00000399275.2	37	c.282C>T	CCDS45032.1																																																																																				0.632	SMAD9-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000044525.2	NM_005905		4	13	0	0	0	1	0	4	13					A	37453545	G	A	37453545	2	1	390	1	0	0	0	0	0	0	0	1	14764	1074	38	1		1	SMAD9	13	37453545	Silent	SNP	G	TCGA-V1-A9OX-01A-11D-A41K-08		37453545	77716333	23	19150											
KIAA1409	57578	broad.mit.edu	37	chr14	94089082	94089082	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	aatttaagattcagattgttCccaggcagaggaagcagagg	14	9	12	6	0	1	4	1	0	0	4	2	5	2	5	1	3	1	3	1	3	3	5			TCGA-V1-A9OX-01A-11D-A41K-08	TCGA-V1-A9OX-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3570cce7-c785-454a-a9bf-95415cc61ddf	23c3b771-9882-4554-9725-6aefa7245627	g.chr14:94089082C>G	ENST00000393151.2	+	30	5503	c.5503C>G	c.(5503-5505)Ccc>Gcc	p.P1835A	UNC79_ENST00000553484.1_Missense_Mutation_p.P1857A|UNC79_ENST00000555664.1_Missense_Mutation_p.P1835A|UNC79_ENST00000256339.4_Missense_Mutation_p.P1658A			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	1835					behavioral response to ethanol (GO:0048149)|ion transmembrane transport (GO:0034220)|multicellular organism growth (GO:0035264)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						TCAGATTGTTCCCAGGCAGAG	0.463																																						ENST00000553484.1																			0				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						c.(5569-5571)Ccc>Gcc		unc-79 homolog (C. elegans)							69	65	66					14																	94089082		2203	4300	6503	SO:0001583	missense	57578					integral to membrane		g.chr14:94089082C>G	AB037830	CCDS9911.2	14q32.13	2011-08-18	2011-08-18	2011-08-18	ENSG00000133958	ENSG00000133958			19966	protein-coding gene	gene with protein product			"KIAA1409"	KIAA1409		20714347, 21040849	Standard	NM_020818		Approved		uc001ybs.1	Q9P2D8	OTTHUMG00000029783	ENST00000393151.2:c.5503C>G	14.37:g.94089082C>G	ENSP00000376858:p.Pro1835Ala					UNC79_ENST00000256339.4_Missense_Mutation_p.P1658A|UNC79_ENST00000393151.2_Missense_Mutation_p.P1835A|UNC79_ENST00000555664.1_Missense_Mutation_p.P1835A	p.P1857A			Q9P2D8	UNC79_HUMAN			31	5723	+			1835					B5MDL6|Q6ZUT7	Missense_Mutation	SNP	ENST00000393151.2	37	c.5569C>G		.	.	.	.	.	.	.	.	.	.	C	18.42	3.620292	0.66787	.	.	ENSG00000133958	ENST00000256339;ENST00000555664;ENST00000553484;ENST00000393151;ENST00000393153	T;T;T;T	0.35605	1.42;1.3;1.43;1.42	5.57	5.57	0.84162	.	0.000000	0.85682	D	0.000000	T	0.52224	0.1721	L	0.32530	0.975	0.54753	D	0.999987	D	0.89917	1.0	D	0.85130	0.997	T	0.50988	-0.8762	10	0.54805	T	0.06	-19.8297	19.535	0.95247	0.0:1.0:0.0:0.0	.	1857	C9JQL1	.	A	1658;1835;1857;1835;1857	ENSP00000256339:P1658A;ENSP00000450868:P1835A;ENSP00000451360:P1857A;ENSP00000376858:P1835A	ENSP00000256339:P1658A	P	+	1	0	KIAA1409	93158835	1.000000	0.71417	0.971000	0.41717	0.985000	0.73830	7.487000	0.81328	2.629000	0.89072	0.484000	0.47621	CCC		0.463	UNC79-006	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000412766.1	XM_028395		6	34	0	0	0	1	0	6	34					G	94089082	C	G	94089082	3	3	390	1	0	0	0	0	1	0	0	0	8230	855	30	5	5078	5	KIAA1409	14	94089082	Missense_Mutation	SNP	C	TCGA-V1-A9OX-01A-11D-A41K-08		94089082	13260458	24	19151											
PPP4C	5531	broad.mit.edu	37	chr16	30094161	30094161	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacgttcctcctgctgctggCacttaaggtggcagtccccg	6	10	11	14	2	0	0	0	0	0	0	3	0	3	0	4	3	3	5	4	3	2	2			TCGA-V1-A9OX-01A-11D-A41K-08	TCGA-V1-A9OX-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3570cce7-c785-454a-a9bf-95415cc61ddf	23c3b771-9882-4554-9725-6aefa7245627	g.chr16:30094161C>T	ENST00000279387.7	+	5	464	c.296C>T	c.(295-297)gCa>gTa	p.A99V	PPP4C_ENST00000561610.1_Missense_Mutation_p.A99V	NM_002720.1	NP_002711.1	P60510	PP4C_HUMAN	protein phosphatase 4, catalytic subunit	99					dephosphorylation (GO:0016311)|NIK/NF-kappaB signaling (GO:0038061)|regulation of double-strand break repair via homologous recombination (GO:0010569)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein phosphatase 4 complex (GO:0030289)	metal ion binding (GO:0046872)|NF-kappaB-inducing kinase activity (GO:0004704)|protein serine/threonine phosphatase activity (GO:0004722)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|liver(2)|lung(2)|pancreas(1)|skin(1)|urinary_tract(1)	9						CTGCTGCTGGCACTTAAGGTG	0.617																																						ENST00000279387.7																			0				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|liver(2)|lung(2)|pancreas(1)|skin(1)|urinary_tract(1)	9						c.(295-297)gCa>gTa		protein phosphatase 4, catalytic subunit							96	76	83					16																	30094161		2197	4300	6497	SO:0001583	missense	5531				microtubule cytoskeleton organization|regulation of double-strand break repair via homologous recombination	centrosome|nucleus	metal ion binding|NF-kappaB-inducing kinase activity|protein binding|protein serine/threonine phosphatase activity	g.chr16:30094161C>T		CCDS10669.1	16p11.2	2010-03-17	2010-03-05		ENSG00000149923	ENSG00000149923	3.1.3.16	"Serine/threonine phosphatases / Protein phosphatase, catalytic subunits"	9319	protein-coding gene	gene with protein product	"protein phosphatase X, catalytic subunit"	602035	"protein phosphatase 4 (formerly X), catalytic subunit"			9177794	Standard	NM_002720		Approved	PP4, PPX	uc002dwf.3	P60510	OTTHUMG00000132113	ENST00000279387.7:c.296C>T	16.37:g.30094161C>T	ENSP00000279387:p.Ala99Val					PPP4C_ENST00000561610.1_Missense_Mutation_p.A99V	p.A99V	NM_002720.1	NP_002711.1	P60510	PP4C_HUMAN			5	464	+			99					P33172	Missense_Mutation	SNP	ENST00000279387.7	37	c.296C>T	CCDS10669.1	.	.	.	.	.	.	.	.	.	.	C	37	6.007233	0.97195	.	.	ENSG00000149923	ENST00000279387	T	0.07567	3.18	5.4	5.4	0.78164	Serine/threonine-specific protein phosphatase/bis(5-nucleosyl)-tetraphosphatase (2);Metallophosphoesterase domain (1);	0.000000	0.85682	D	0.000000	T	0.14527	0.0351	M	0.68317	2.08	0.80722	D	1	P	0.46784	0.884	B	0.41374	0.355	T	0.00733	-1.1589	10	0.72032	D	0.01	.	18.0958	0.89489	0.0:1.0:0.0:0.0	.	99	P60510	PP4C_HUMAN	V	99	ENSP00000279387:A99V	ENSP00000279387:A99V	A	+	2	0	PPP4C	30001662	1.000000	0.71417	0.994000	0.49952	0.933000	0.57130	5.767000	0.68850	2.813000	0.96785	0.561000	0.74099	GCA		0.617	PPP4C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255155.2	NM_002720		3	37	0	0	0	1	0	3	37					T	30094161	C	T	30094161	3	4	390	1	0	0	0	0	1	0	0	0	12402	710	25	3	310	3	PPP4C	16	30094161	Missense_Mutation	SNP	C	TCGA-V1-A9OX-01A-11D-A41K-08		30094161	60260592	25	19152											
MYH8	4626	broad.mit.edu	37	chr17	10295860	10295860	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaaggctattccctttaccTggtaggtgagttcttttact	7	16	10	8	0	1	1	0	1	1	0	2	2	2	2	2	4	2	3	2	4	5	8			TCGA-V1-A9OX-01A-11D-A41K-08	TCGA-V1-A9OX-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3570cce7-c785-454a-a9bf-95415cc61ddf	23c3b771-9882-4554-9725-6aefa7245627	g.chr17:10295860T>C	ENST00000403437.2	-	38	5661	c.5567A>G	c.(5566-5568)cAg>cGg	p.Q1856R	RP11-799N11.1_ENST00000581304.1_RNA|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	1856					ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|skeletal muscle contraction (GO:0003009)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|myosin light chain binding (GO:0032027)|structural constituent of muscle (GO:0008307)			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						TCCCTTTACCTGGTAGGTGAG	0.408									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling																													ENST00000403437.2																			0				NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						c.e38+1		myosin, heavy chain 8, skeletal muscle, perinatal							168	156	160					17																	10295860		2202	4300	6502	SO:0001630	splice_region_variant	4626	Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling	Familial Cancer Database	Carney Complex Variant	muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle	g.chr17:10295860T>C		CCDS11153.1	17p13.1	2013-09-19	2006-09-29		ENSG00000133020	ENSG00000133020		"Myosins / Myosin superfamily : Class II"	7578	protein-coding gene	gene with protein product		160741	"myosin, heavy polypeptide 8, skeletal muscle, perinatal"			2373371	Standard	NM_002472		Approved	MyHC-peri, MyHC-pn	uc002gmm.2	P13535	OTTHUMG00000130361	ENST00000403437.2:c.5568+1A>G	17.37:g.10295860T>C						CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	p.Q1856_splice	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN			38	5661	-			1856					Q14910	Splice_Site	SNP	ENST00000403437.2	37	c.5568_splice	CCDS11153.1	.	.	.	.	.	.	.	.	.	.	T	29.4	5.001937	0.93227	.	.	ENSG00000133020	ENST00000252173;ENST00000403437	T	0.81247	-1.47	5.03	5.03	0.67393	Myosin tail (1);	0.000000	0.39759	U	0.001269	D	0.88265	0.6390	M	0.92077	3.27	0.54753	D	0.999985	B	0.32188	0.359	B	0.42653	0.394	D	0.89943	0.4074	10	0.87932	D	0	.	14.9443	0.71016	0.0:0.0:0.0:1.0	.	1856	P13535	MYH8_HUMAN	R	1856	ENSP00000384330:Q1856R	ENSP00000252173:Q1856R	Q	-	2	0	MYH8	10236585	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	7.825000	0.86693	2.110000	0.64415	0.528000	0.53228	CAG		0.408	MYH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252724.2	NM_002472	Missense_Mutation	6	100	0	0	0	1	0	6	100					C	10295860	T	C	10295860	5	2	390	1	0	0	0	0	0	0	1	0	10041	1594	55	4	258	4	MYH8	17	10295860	Splice_Site	SNP	T	TCGA-V1-A9OX-01A-11D-A41K-08		10295860	70899350	26	19153											
GRN	2896	broad.mit.edu	37	chr17	42428524	42428524	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctcctcactaagctgcctgcGcacacaggtaccagaggcag	10	6	10	15	1	1	1	1	0	0	1	2	1	2	1	3	2	4	4	3	2	2	2			TCGA-V1-A9OX-01A-11D-A41K-08	TCGA-V1-A9OX-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3570cce7-c785-454a-a9bf-95415cc61ddf	23c3b771-9882-4554-9725-6aefa7245627	g.chr17:42428524G>A	ENST00000053867.3	+	8	890	c.828G>A	c.(826-828)gcG>gcA	p.A276A	GRN_ENST00000589265.1_Intron|GRN_ENST00000589923.1_Intron	NM_002087.2	NP_002078.1	P28799	GRN_HUMAN	granulin	276					blastocyst hatching (GO:0001835)|cell death (GO:0008219)|embryo implantation (GO:0007566)|positive regulation of epithelial cell proliferation (GO:0050679)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)	growth factor activity (GO:0008083)|poly(A) RNA binding (GO:0044822)	p.A276A(1)		central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.189)		AGCTGCCTGCGCACACAGGTA	0.587											OREG0024459	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000053867.3																			1	Substitution - coding silent(1)	p.A276A(1)	central_nervous_system(1)	central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						c.(826-828)gcG>gcA		granulin							89	88	88					17																	42428524		2203	4300	6503	SO:0001819	synonymous_variant	2896				signal transduction	extracellular space	cytokine activity|growth factor activity	g.chr17:42428524G>A	M75161	CCDS11483.1	17q21.32	2014-09-17				ENSG00000030582			4601	protein-coding gene	gene with protein product	"progranulin"	138945				1417868, 9826678	Standard	XM_005257253		Approved	PCDGF, PGRN, CLN11	uc002igp.1	P28799		ENST00000053867.3:c.828G>A	17.37:g.42428524G>A			OREG0024459	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	908	GRN_ENST00000589265.1_Intron|GRN_ENST00000589923.1_Intron	p.A276A	NM_002087.2	NP_002078.1	P28799	GRN_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.189)	8	890	+		Prostate(33;0.0181)	276					D3DX55|P23781|P23782|P23783|P23784|Q53HQ8|Q53Y88|Q540U8|Q9BWE7|Q9H8S1|Q9UCH0	Silent	SNP	ENST00000053867.3	37	c.828G>A	CCDS11483.1																																																																																				0.587	GRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457766.1	NM_002087		10	42	0	0	0	1	0	10	42					A	42428524	G	A	42428524	2	1	390	1	0	0	0	0	0	0	0	1	6804	1074	38	1		1	GRN	17	42428524	Silent	SNP	G	TCGA-V1-A9OX-01A-11D-A41K-08	32132664	42428524	38766686	27	19154											
SPOP	8405	broad.mit.edu	37	chr17	47696438	47696438	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttcttgaatccccagtcttTgccttgcacaaacctatatg	9	15	5	12	0	2	1	0	1	2	0	3	1	3	1	4	0	3	1	4	0	4	6			TCGA-V1-A9OX-01A-11D-A41K-08	TCGA-V1-A9OX-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3570cce7-c785-454a-a9bf-95415cc61ddf	23c3b771-9882-4554-9725-6aefa7245627	g.chr17:47696438T>C	ENST00000393328.2	-	6	750	c.385A>G	c.(385-387)Aaa>Gaa	p.K129E	SPOP_ENST00000503676.1_Missense_Mutation_p.K129E|SPOP_ENST00000513080.1_5'Flank|SPOP_ENST00000347630.2_Missense_Mutation_p.K129E|SPOP_ENST00000393331.3_Missense_Mutation_p.K129E|SPOP_ENST00000504102.1_Missense_Mutation_p.K129E	NM_003563.3	NP_003554.1	O43791	SPOP_HUMAN	speckle-type POZ protein	129	Important for binding substrate proteins.|MATH. {ECO:0000255|PROSITE- ProRule:PRU00129}.|Required for nuclear localization.				glucose homeostasis (GO:0042593)|positive regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902237)|positive regulation of type B pancreatic cell apoptotic process (GO:2000676)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	Cul3-RING ubiquitin ligase complex (GO:0031463)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	ubiquitin protein ligase binding (GO:0031625)	p.K129E(1)		endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						CCCCAGTCTTTGCCTTGCACA	0.453										Prostate(2;0.17)																												ENST00000393331.3																			1	Substitution - Missense(1)	p.K129E(1)	prostate(1)	endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						c.(385-387)Aaa>Gaa		speckle-type POZ protein							120	123	122					17																	47696438		2203	4300	6503	SO:0001583	missense	8405				mRNA processing	nucleus	protein binding	g.chr17:47696438T>C	AJ000644	CCDS11551.1	17q21.33	2013-01-09			ENSG00000121067	ENSG00000121067		"BTB/POZ domain containing"	11254	protein-coding gene	gene with protein product		602650				9414087	Standard	NM_001007227		Approved	TEF2, BTBD32	uc002ipg.3	O43791	OTTHUMG00000161496	ENST00000393328.2:c.385A>G	17.37:g.47696438T>C	ENSP00000377001:p.Lys129Glu	Prostate(2;0.17)				SPOP_ENST00000504102.1_Missense_Mutation_p.K129E|SPOP_ENST00000503676.1_Missense_Mutation_p.K129E|SPOP_ENST00000347630.2_Missense_Mutation_p.K129E|SPOP_ENST00000393328.2_Missense_Mutation_p.K129E	p.K129E	NM_001007226.1|NM_001007227.1	NP_001007227.1|NP_001007228.1	O43791	SPOP_HUMAN			7	855	-			129			MATH.|Required for nuclear localization.		B2R6S3|D3DTW7|Q53HJ1	Missense_Mutation	SNP	ENST00000393328.2	37	c.385A>G	CCDS11551.1	.	.	.	.	.	.	.	.	.	.	T	24.1	4.496558	0.85069	.	.	ENSG00000121067	ENST00000393328;ENST00000393331;ENST00000347630;ENST00000504102;ENST00000503536;ENST00000503676;ENST00000513872;ENST00000509079;ENST00000505581;ENST00000507970;ENST00000514121	T;T;T;T;T;T;T;T;T	0.43294	0.95;0.95;0.95;0.95;0.95;0.95;0.95;0.95;0.95	5.41	5.41	0.78517	TRAF-type (1);TRAF-like (1);MATH (3);	0.000000	0.85682	D	0.000000	T	0.46367	0.1389	L	0.33245	0.995	0.80722	D	1	P	0.51653	0.947	P	0.57679	0.825	T	0.20907	-1.0261	10	0.15066	T	0.55	-5.7425	15.258	0.73599	0.0:0.0:0.0:1.0	.	129	O43791	SPOP_HUMAN	E	129;129;129;129;13;129;82;129;129;129;129	ENSP00000377001:K129E;ENSP00000377004:K129E;ENSP00000240327:K129E;ENSP00000425905:K129E;ENSP00000420908:K129E;ENSP00000426986:K129E;ENSP00000420960:K129E;ENSP00000426262:K129E;ENSP00000424119:K129E	ENSP00000240327:K129E	K	-	1	0	SPOP	45051437	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.861000	0.87004	2.261000	0.74972	0.460000	0.39030	AAA		0.453	SPOP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365154.2	NM_003563		6	134	0	0	0	1	0	6	134					C	47696438	T	C	47696438	3	2	390	1	0	0	0	0	1	0	0	0	15083	1821	63	4	763	4	SPOP	17	47696438	Missense_Mutation	SNP	T	TCGA-V1-A9OX-01A-11D-A41K-08	5267914	47696438	33498772	28	19155											
PTBP1	5725	broad.mit.edu	37	chr19	808418	808418	+	Frame_Shift_Del	DEL	A	A	-																															aataagaaggagaacgccctAgtgcagatggcggacggcaa																										TCGA-V1-A9OX-01A-11D-A41K-08	TCGA-V1-A9OX-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3570cce7-c785-454a-a9bf-95415cc61ddf	23c3b771-9882-4554-9725-6aefa7245627	g.chr19:808418delA	ENST00000349038.4	+	11	1207	c.1134delA	c.(1132-1134)ctafs	p.L378fs	PTBP1_ENST00000356948.6_Frame_Shift_Del_p.L404fs|PTBP1_ENST00000394601.4_Frame_Shift_Del_p.L397fs|PTBP1_ENST00000350092.4_Frame_Shift_Del_p.L44fs	NM_031991.3	NP_114368.1	P26599	PTBP1_HUMAN	polypyrimidine tract binding protein 1	378	RRM 3. {ECO:0000255|PROSITE- ProRule:PRU00176}.				alternative mRNA splicing, via spliceosome (GO:0000380)|gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|negative regulation of muscle cell differentiation (GO:0051148)|negative regulation of RNA splicing (GO:0033119)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing (GO:0008380)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|poly-pyrimidine tract binding (GO:0008187)|pre-mRNA binding (GO:0036002)|RNA binding (GO:0003723)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(4)	19		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;0.000172)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AGAACGCCCTAGTGCAGATGG	0.677																																						ENST00000356948.6																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(4)	19						c.(1210-1212)ctfs		polypyrimidine tract binding protein 1							23	22	22					19																	808418		2195	4295	6490	SO:0001589	frameshift_variant	5725				negative regulation of muscle cell differentiation|nuclear mRNA splicing, via spliceosome|regulation of alternative nuclear mRNA splicing, via spliceosome	heterogeneous nuclear ribonucleoprotein complex|nucleolus|nucleoplasm	mRNA binding|nucleotide binding|poly-pyrimidine tract binding|protein binding	g.chr19:808418delA	X60648	CCDS32859.1, CCDS42456.1, CCDS45892.1	19p13.3	2013-07-16	2002-01-25	2002-01-25	ENSG00000011304	ENSG00000011304		"RNA binding motif (RRM) containing"	9583	protein-coding gene	gene with protein product	"heterogeneous nuclear ribonucleoprotein I"	600693	"polypyrimidine tract binding protein (heterogeneous nuclear ribonucleoprotein I)"	PTB		1906036, 11024286	Standard	NM_002819		Approved	HNRPI, HNRNP-I, PTB2, PTB3, PTB-1, PTB4, pPTB	uc002lpp.2	P26599		ENST00000349038.4:c.1134delA	19.37:g.808418delA	ENSP00000014112:p.Leu378fs					PTBP1_ENST00000394601.4_Frame_Shift_Del_p.L397fs|PTBP1_ENST00000349038.4_Frame_Shift_Del_p.L378fs|PTBP1_ENST00000350092.4_Frame_Shift_Del_p.L44fs	p.L404fs	NM_002819.4	NP_002810.1	P26599	PTBP1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	12	1635	+		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;0.000172)|Hepatocellular(1079;0.137)|Renal(1328;0.228)	378			RRM 3.		Q9BUQ0	Frame_Shift_Del	DEL	ENST00000349038.4	37	c.1212delA	CCDS32859.1																																																																																				0.677	PTBP1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457605.1			2	4						2	4	---	---	---	---	-	808418	A	-	808418	7	5	390	1	0	1	0	1	0	0	0	0	12725	407	15	0	1258	0	PTBP1	19	808418	Frame_Shift_Del	DEL	A	TCGA-V1-A9OX-01A-11D-A41K-08		808418	58320565	29	19156											
AP1M2	10053	broad.mit.edu	37	chr19	10692007	10692007	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gctctggcattcctgacagaAacaccttgagcttgatggta	10	11	10	10	0	1	4	0	3	1	1	2	4	2	4	2	2	2	4	2	2	2	4			TCGA-V1-A9OX-01A-11D-A41K-08	TCGA-V1-A9OX-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3570cce7-c785-454a-a9bf-95415cc61ddf	23c3b771-9882-4554-9725-6aefa7245627	g.chr19:10692007A>C	ENST00000250244.6	-	6	690	c.608T>G	c.(607-609)tTt>tGt	p.F203C	AP1M2_ENST00000590923.1_Missense_Mutation_p.F203C	NM_005498.4	NP_005489.2	Q9Y6Q5	AP1M2_HUMAN	adaptor-related protein complex 1, mu 2 subunit	203	MHD. {ECO:0000255|PROSITE- ProRule:PRU00404}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)|protein targeting (GO:0006605)|regulation of defense response to virus by virus (GO:0050690)|vesicle targeting (GO:0006903)|viral process (GO:0016032)	clathrin adaptor complex (GO:0030131)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|Golgi membrane (GO:0000139)|lysosomal membrane (GO:0005765)|trans-Golgi network membrane (GO:0032588)				endometrium(4)|large_intestine(1)|lung(1)|ovary(2)|urinary_tract(1)	9			Epithelial(33;1.58e-05)|all cancers(31;6.36e-05)			TCCTGACAGAAACACCTTGAG	0.542											OREG0025241	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000590923.1																			0				endometrium(4)|large_intestine(1)|lung(1)|ovary(2)|urinary_tract(1)	9						c.(607-609)tTt>tGt		adaptor-related protein complex 1, mu 2 subunit							54	57	56					19																	10692007		2061	4213	6274	SO:0001583	missense	10053				cellular membrane organization|post-Golgi vesicle-mediated transport|protein targeting|regulation of defense response to virus by virus|vesicle targeting|viral reproduction	clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane	protein binding	g.chr19:10692007A>C	AF020797	CCDS45964.1	19p13.2	2008-10-07				ENSG00000129354			558	protein-coding gene	gene with protein product		607309				10338135	Standard	NM_005498		Approved	HSMU1B, mu2, AP1-mu2	uc002mpc.3	Q9Y6Q5		ENST00000250244.6:c.608T>G	19.37:g.10692007A>C	ENSP00000250244:p.Phe203Cys		OREG0025241	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	666	AP1M2_ENST00000250244.6_Missense_Mutation_p.F203C	p.F203C			Q9Y6Q5	AP1M2_HUMAN	Epithelial(33;1.58e-05)|all cancers(31;6.36e-05)		6	691	-			203			MHD.		B2RDV5|Q9BSI8	Missense_Mutation	SNP	ENST00000250244.6	37	c.608T>G	CCDS45964.1	.	.	.	.	.	.	.	.	.	.	a	14.52	2.559451	0.45590	.	.	ENSG00000129354	ENST00000250244	T	0.21031	2.03	5.28	4.25	0.50352	Clathrin adaptor, mu subunit, C-terminal (3);	0.108077	0.64402	D	0.000008	T	0.42063	0.1186	M	0.80616	2.505	0.45777	D	0.998667	B;D	0.59767	0.046;0.986	B;P	0.58520	0.047;0.84	T	0.38067	-0.9678	10	0.62326	D	0.03	-16.2973	11.4368	0.50072	0.8485:0.1515:0.0:0.0	.	203;203	Q9Y6Q5-2;Q9Y6Q5	.;AP1M2_HUMAN	C	203	ENSP00000250244:F203C	ENSP00000250244:F203C	F	-	2	0	AP1M2	10553007	1.000000	0.71417	0.990000	0.47175	0.680000	0.39746	9.284000	0.95882	0.832000	0.34804	0.449000	0.29647	TTT		0.542	AP1M2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000452034.1			11	37	0	0	0	1	0	11	37					C	10692007	A	C	10692007	3	2	390	1	0	0	0	0	1	0	0	0	735	14	1	5	691	5	AP1M2	19	10692007	Missense_Mutation	SNP	A	TCGA-V1-A9OX-01A-11D-A41K-08	9883589	10692007	48436976	30	19157											
ZNF799	90576	broad.mit.edu	37	chr19	12502046	12502046	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tgcatttgtgaggtccatctCcagtgtgcattgtcatgtgt	6	16	11	8	0	2	1	1	1	1	0	4	1	3	1	2	1	2	2	2	1	0	2			TCGA-V1-A9OX-01A-11D-A41K-08	TCGA-V1-A9OX-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3570cce7-c785-454a-a9bf-95415cc61ddf	23c3b771-9882-4554-9725-6aefa7245627	g.chr19:12502046C>T	ENST00000430385.3	-	4	1366	c.1166G>A	c.(1165-1167)gGa>gAa	p.G389E	CTD-3105H18.14_ENST00000435033.1_Intron|ZNF799_ENST00000419318.1_Missense_Mutation_p.G357E	NM_001080821.2	NP_001074290.1	Q96GE5	ZN799_HUMAN	zinc finger protein 799	389					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(2)	19						AGGTCCATCTCCAGTGTGCAT	0.423																																						ENST00000419318.1																			0				breast(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(2)	19						c.(1069-1071)gGa>gAa		zinc finger protein 799							183	175	178					19																	12502046		2203	4300	6503	SO:0001583	missense	90576				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12502046C>T	BC009517	CCDS45989.1	19p13.2	2013-01-08			ENSG00000196466	ENSG00000196466		"Zinc fingers, C2H2-type", "-"	28071	protein-coding gene	gene with protein product			"zinc finger protein 842"	ZNF842			Standard	NM_001080821		Approved	HIT-40, MGC71805	uc002mts.4	Q96GE5	OTTHUMG00000156408	ENST00000430385.3:c.1166G>A	19.37:g.12502046C>T	ENSP00000411084:p.Gly389Glu					CTD-3105H18.14_ENST00000435033.1_Intron|ZNF799_ENST00000430385.3_Missense_Mutation_p.G389E	p.G357E			Q96GE5	ZN799_HUMAN			4	1819	-			389						Missense_Mutation	SNP	ENST00000430385.3	37	c.1070G>A	CCDS45989.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.115795	0.77323	.	.	ENSG00000196466	ENST00000419318;ENST00000430385	T;T	0.25749	1.78;1.78	1.31	1.31	0.21738	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.37679	0.1012	L	0.45422	1.42	0.38348	D	0.944251	D	0.89917	1.0	D	0.97110	1.0	T	0.35226	-0.9797	9	0.66056	D	0.02	.	8.5098	0.33211	0.0:1.0:0.0:0.0	.	389	Q96GE5	ZN799_HUMAN	E	357;389	ENSP00000415278:G357E;ENSP00000411084:G389E	ENSP00000415278:G357E	G	-	2	0	ZNF799	12363046	0.003000	0.15002	0.175000	0.22980	0.928000	0.56348	0.883000	0.28200	1.021000	0.39600	0.430000	0.28490	GGA		0.423	ZNF799-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344099.2	NM_001080821		5	198	0	0	0	1	0	5	198					T	12502046	C	T	12502046	3	4	390	1	0	0	0	0	1	0	0	0	18163	855	30	3	769	3	ZNF799	19	12502046	Missense_Mutation	SNP	C	TCGA-V1-A9OX-01A-11D-A41K-08	1810039	12502046	46626937	31	19158											
TSHZ3	57616	broad.mit.edu	37	chr19	31768395	31768395	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tctgccttcttggactgcagGggcggcggggtggccacagc	4	8	17	12	2	2	0	0	0	2	0	2	1	2	1	2	7	3	1	2	7	0	2			TCGA-V1-A9OX-01A-11D-A41K-08	TCGA-V1-A9OX-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3570cce7-c785-454a-a9bf-95415cc61ddf	23c3b771-9882-4554-9725-6aefa7245627	g.chr19:31768395G>A	ENST00000240587.4	-	2	2631	c.2304C>T	c.(2302-2304)ccC>ccT	p.P768P		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	768					in utero embryonic development (GO:0001701)|kidney morphogenesis (GO:0060993)|kidney smooth muscle cell differentiation (GO:0072195)|lung development (GO:0030324)|metanephros development (GO:0001656)|musculoskeletal movement (GO:0050881)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of smooth muscle cell differentiation (GO:0051152)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|sensory perception of touch (GO:0050975)|transcription, DNA-templated (GO:0006351)|ureter smooth muscle cell differentiation (GO:0072193)|ureteric bud development (GO:0001657)|ureteric peristalsis (GO:0072105)	growth cone (GO:0030426)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					TGGACTGCAGGGGCGGCGGGG	0.597																																						ENST00000240587.4																			0				breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123						c.(2302-2304)ccC>ccT		teashirt zinc finger homeobox 3							72	69	70					19																	31768395		2203	4300	6503	SO:0001819	synonymous_variant	57616				negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:31768395G>A	AL136805	CCDS12421.2	19q13.11	2013-11-20	2007-07-16	2006-03-14	ENSG00000121297	ENSG00000121297		"Teashirt zinc fingers", "Homeoboxes / ZF class", "Zinc fingers, C2H2-type"	30700	protein-coding gene	gene with protein product	"teashirt 3"	614119	"zinc finger protein 537", "teashirt family zinc finger 3"	ZNF537			Standard	NM_020856		Approved	KIAA1474, TSH3	uc002nsy.4	Q63HK5	OTTHUMG00000150184	ENST00000240587.4:c.2304C>T	19.37:g.31768395G>A							p.P768P	NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN			2	2631	-	Esophageal squamous(110;0.226)		768					Q9H0G6|Q9P254	Silent	SNP	ENST00000240587.4	37	c.2304C>T	CCDS12421.2																																																																																				0.597	TSHZ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316743.2	NM_020856		14	46	0	0	0	1	0	14	46					A	31768395	G	A	31768395	2	1	390	1	0	0	0	0	0	0	0	1	16622	1219	43	3		3	TSHZ3	19	31768395	Silent	SNP	G	TCGA-V1-A9OX-01A-11D-A41K-08	19266349	31768395	27360588	32	19159											
UBA2	10054	broad.mit.edu	37	chr19	34919386	34919386	+	Frame_Shift_Del	DEL	G	G	-																															agctggctgaggcggtggccGggggccgggtgctggtggtg																										TCGA-V1-A9OX-01A-11D-A41K-08	TCGA-V1-A9OX-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3570cce7-c785-454a-a9bf-95415cc61ddf	23c3b771-9882-4554-9725-6aefa7245627	g.chr19:34919386delG	ENST00000246548.4	+	1	119	c.49delG	c.(49-51)gggfs	p.G18fs	CTD-2588C8.8_ENST00000592220.1_RNA|UBA2_ENST00000439527.2_5'Flank	NM_005499.2	NP_005490.1	Q9UBT2	SAE2_HUMAN	ubiquitin-like modifier activating enzyme 2	18					cellular protein metabolic process (GO:0044267)|positive regulation of catalytic activity (GO:0043085)|post-translational protein modification (GO:0043687)|protein sumoylation (GO:0016925)|SMT3-dependent protein catabolic process (GO:0019950)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|SUMO activating enzyme complex (GO:0031510)	ATP binding (GO:0005524)|enzyme activator activity (GO:0008047)|ligase activity (GO:0016874)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|SUMO activating enzyme activity (GO:0019948)			breast(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	20	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.211)			GGCGGTGGCCGGGGGCCGGGT	0.741																																						ENST00000246548.4																			0				breast(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	20						c.(49-51)ggfs		ubiquitin-like modifier activating enzyme 2							4	6	5					19																	34919386		1665	3480	5145	SO:0001589	frameshift_variant	10054				protein sumoylation	nucleus	ATP binding|enzyme activator activity|ligase activity|metal ion binding|protein heterodimerization activity|SUMO activating enzyme activity	g.chr19:34919386delG	BC003153	CCDS12439.1	19q13.11	2008-02-05	2007-11-30	2007-11-30		ENSG00000126261		"Ubiquitin-like modifier activating enzymes"	30661	protein-coding gene	gene with protein product	"UBA2, ubiquitin-activating enzyme E1 homolog (yeast)"	613295	"SUMO1 activating enzyme subunit 2"	SAE2		10187858, 9920803	Standard	NM_005499		Approved	FLJ13058, HRIHFB2115, ARX	uc002nvk.3	Q9UBT2		ENST00000246548.4:c.49delG	19.37:g.34919386delG	ENSP00000246548:p.Gly18fs						p.G18fs	NM_005499.2	NP_005490.1	Q9UBT2	SAE2_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.211)		1	119	+	Esophageal squamous(110;0.162)		18					B3KWB9|O95605|Q59H87|Q6IBP6|Q9NTJ1|Q9UED2	Frame_Shift_Del	DEL	ENST00000246548.4	37	c.49delG	CCDS12439.1																																																																																				0.741	UBA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459257.3	NM_005499		2	4						2	4	---	---	---	---	-	34919386	G	-	34919386	7	5	390	1	0	1	0	1	0	0	0	0	16825	1116	39	0	51	0	UBA2	19	34919386	Frame_Shift_Del	DEL	G	TCGA-V1-A9OX-01A-11D-A41K-08	3150991	34919386	24209597	33	19160											
PRX	57716	broad.mit.edu	37	chr19	40902691	40902691	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtttcatctccgacactttcAgcagctgtacctctggaagc	8	12	8	13	1	4	0	2	0	2	0	5	2	4	1	2	1	4	4	2	1	2	3	rs550446238	byFrequency	TCGA-V1-A9OX-01A-11D-A41K-08	TCGA-V1-A9OX-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3570cce7-c785-454a-a9bf-95415cc61ddf	23c3b771-9882-4554-9725-6aefa7245627	g.chr19:40902691A>G	ENST00000324001.7	-	7	1838	c.1568T>C	c.(1567-1569)cTg>cCg	p.L523P	PRX_ENST00000291825.7_3'UTR	NM_181882.2	NP_870998.2	Q9BXM0	PRAX_HUMAN	periaxin	523	55 X 5 AA approximate tandem repeats of [LVMAG]-[PSREQC]-[EDKL]-[LIVMAP]- [AQKHRPE]; that may have a tripeptide spacer of [LV]-P-[KER].				axon ensheathment (GO:0008366)|cell death (GO:0008219)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.L523P(1)		breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9)	47			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			CGACACTTTCAGCAGCTGTAC	0.567													A|||	2	0.000399361	0.0015	0	5008	,	,		17189	0		0	False		,,,				2504	0					ENST00000324001.7																			1	Substitution - Missense(1)	p.L523P(1)	endometrium(1)	breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9)	47						c.(1567-1569)cTg>cCg		periaxin							83	96	91					19																	40902691		2202	4300	6502	SO:0001583	missense	57716				axon ensheathment	cytoplasm|nucleus|plasma membrane	protein binding	g.chr19:40902691A>G	AB046840	CCDS12556.1, CCDS33028.1	19q13.2	2014-09-17				ENSG00000105227			13797	protein-coding gene	gene with protein product		605725				10839370, 9143514	Standard	NM_181882		Approved	KIAA1620	uc002onr.3	Q9BXM0		ENST00000324001.7:c.1568T>C	19.37:g.40902691A>G	ENSP00000326018:p.Leu523Pro					PRX_ENST00000291825.7_3'UTR	p.L523P	NM_181882.2	NP_870998.2	Q9BXM0	PRAX_HUMAN	Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)		7	1838	-			523			55 X 5 AA approximate tandem repeats of [LVMAG]-[PSREQC]-[EDKL]-[LIVMAP]- [AQKHRPE]; that may have a tripeptide spacer of [LV]-P-[KER].		Q9BXL9|Q9HCF2	Missense_Mutation	SNP	ENST00000324001.7	37	c.1568T>C	CCDS33028.1	.	.	.	.	.	.	.	.	.	.	A	0.220	-1.029187	0.02045	.	.	ENSG00000105227	ENST00000324001;ENST00000341562	T	0.02121	4.44	4.06	1.9	0.25705	.	0.144240	0.32357	N	0.006204	T	0.00496	0.0016	N	0.00082	-2.215	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.47045	-0.9147	10	0.02654	T	1	.	7.7836	0.29078	0.2047:0.0:0.7953:0.0	.	523	Q9BXM0	PRAX_HUMAN	P	523	ENSP00000326018:L523P	ENSP00000326018:L523P	L	-	2	0	PRX	45594531	0.009000	0.17119	0.401000	0.26359	0.052000	0.14988	0.748000	0.26305	0.370000	0.24538	-0.252000	0.11476	CTG		0.567	PRX-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000462582.1	NM_020956		5	172	0	0	0	1	0	5	172					G	40902691	A	G	40902691	3	3	390	1	0	0	0	0	1	0	0	0	12642	188	7	4	2821	4	PRX	19	40902691	Missense_Mutation	SNP	A	TCGA-V1-A9OX-01A-11D-A41K-08	5983305	40902691	18226292	34	19161											
TMPRSS2	7113	broad.mit.edu	37	chr21	42843897	42843899	+	In_Frame_Del	DEL	TTG	TTG	-																															atgccgtccaatgccatggaTtgttaagaggtctgggagag																										TCGA-V1-A9OX-01A-11D-A41K-08	TCGA-V1-A9OX-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3570cce7-c785-454a-a9bf-95415cc61ddf	23c3b771-9882-4554-9725-6aefa7245627	g.chr21:42843897_42843899delTTG	ENST00000332149.5	-	10	1043_1045	c.909_911delCAA	c.(907-912)aacaat>aat	p.303_304NN>N	TMPRSS2_ENST00000458356.1_In_Frame_Del_p.303_304NN>N|TMPRSS2_ENST00000398585.3_In_Frame_Del_p.340_341NN>N	NM_005656.3	NP_005647.3	O15393	TMPS2_HUMAN	transmembrane protease, serine 2	303	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				positive regulation of viral entry into host cell (GO:0046598)|protein autoprocessing (GO:0016540)|proteolysis (GO:0006508)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)		TMPRSS2/ETV1(34)|TMPRSS2/ETV5_ENST00000306376(5)|TMPRSS2/ERG(3582)|TMPRSS2/ETV4(13)	central_nervous_system(1)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	4		Prostate(19;4.48e-07)|all_epithelial(19;0.031)				ATGCCATGGATTGTTAAGAGGTC	0.443			T	"ERG, ETV1, ETV4, ETV5"	prostate																																	ENST00000398585.3				Dom	yes		21	21q22.3	7113	T	"transmembrane protease, serine 2"			E	"ERG, ETV1, ETV4, ETV5"		prostate	TMPRSS2/ETV1(34)|TMPRSS2/ETV5_ENST00000306376(5)|TMPRSS2/ERG(3582)|TMPRSS2/ETV4(13)	0				central_nervous_system(1)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	4						c.(1018-1023)aat>aa		transmembrane protease, serine 2																																				SO:0001651	inframe_deletion	0				proteolysis	cytoplasm|extracellular region|integral to plasma membrane	scavenger receptor activity|serine-type endopeptidase activity	g.chr21:42843897_42843899delTTG	U75329	CCDS33564.1, CCDS54486.1	21q22.3	2010-04-13			ENSG00000184012	ENSG00000184012		"Serine peptidases / Transmembrane"	11876	protein-coding gene	gene with protein product		602060				9325052	Standard	NM_005656		Approved	PRSS10	uc010gor.3	O15393	OTTHUMG00000086762	ENST00000332149.5:c.909_911delCAA	21.37:g.42843897_42843899delTTG	ENSP00000330330:p.Asn304del					TMPRSS2_ENST00000458356.1_In_Frame_Del_p.NN303del|TMPRSS2_ENST00000332149.5_In_Frame_Del_p.NN303del	p.NN340del	NM_001135099.1	NP_001128571.1	O15393	TMPS2_HUMAN			10	1080_1082	-		Prostate(19;4.48e-07)|all_epithelial(19;0.031)	303			Peptidase S1.		A8K6Z8|B2R8E5|B7Z459|D3DSJ2|F8WES1|Q6GTK7|Q9BXX1	In_Frame_Del	DEL	ENST00000332149.5	37	c.1020_1022delCAA	CCDS33564.1																																																																																				0.443	TMPRSS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195189.1			17	61						17	61	---	---	---	---	-	42843899	TTG	-	42843897	7	5	390	1	0	1	0	1	0	0	0	0	16244	1493	52	0	587	0	TMPRSS2	21	42843897	In_Frame_Del	DEL	TTG	TCGA-V1-A9OX-01A-11D-A41K-08		42843897	5285998	35	19162											
HCFC1	3054	broad.mit.edu	37	chrX	153216312	153216312	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgggaaaccaggcaggcaCgtcttaaaggctgagatttc	11	8	12	10	1	1	1	0	1	1	1	2	3	1	2	2	4	1	3	2	4	3	2			TCGA-V1-A9OX-01A-11D-A41K-08	TCGA-V1-A9OX-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3570cce7-c785-454a-a9bf-95415cc61ddf	23c3b771-9882-4554-9725-6aefa7245627	g.chrX:153216312C>T	ENST00000310441.7	-	23	6621	c.5655G>A	c.(5653-5655)acG>acA	p.T1885T	HCFC1_ENST00000369984.4_Silent_p.T1930T|HCFC1_ENST00000354233.3_Silent_p.T1816T	NM_005334.2	NP_005325.2	P51610	HCFC1_HUMAN	host cell factor C1	1885	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell cycle (GO:0007049)|chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell cycle (GO:0045787)|positive regulation of gene expression (GO:0010628)|protein stabilization (GO:0050821)|regulation of protein complex assembly (GO:0043254)|regulation of transcription, DNA-templated (GO:0006355)|release from viral latency (GO:0019046)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|membrane (GO:0016020)|mitochondrion (GO:0005739)|MLL1 complex (GO:0071339)|MLL5-L complex (GO:0070688)|neuronal cell body (GO:0043025)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)	chromatin binding (GO:0003682)|identical protein binding (GO:0042802)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			NS(1)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(3)|large_intestine(3)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CAGGCAGGCACGTCTTAAAGG	0.572																																						ENST00000310441.7																			0				NS(1)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(3)|large_intestine(3)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						c.(5653-5655)acG>acA		host cell factor C1 (VP16-accessory protein)							105	113	111					X																	153216312		1937	4115	6052	SO:0001819	synonymous_variant	3054				cell cycle|interspecies interaction between organisms|positive regulation of cell cycle|positive regulation of gene expression|protein stabilization|reactivation of latent virus|regulation of protein complex assembly|transcription from RNA polymerase II promoter	mitochondrion|MLL1 complex|MLL5-L complex|Set1C/COMPASS complex	chromatin binding|identical protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chrX:153216312C>T		CCDS44020.1	Xq28	2014-06-12	2014-06-09		ENSG00000172534	ENSG00000172534			4839	protein-coding gene	gene with protein product	"VP16-accessory protein", "protein phosphatase 1, regulatory subunit 89"	300019	"mental retardation, X-linked 3", "host cell factor C1 (VP16-accessory protein)"	HFC1, MRX3		8392914, 23000143	Standard	XM_005274664		Approved	HCF-1, HCF1, CFF, VCAF, MGC70925, PPP1R89	uc004fjp.3	P51610	OTTHUMG00000024222	ENST00000310441.7:c.5655G>A	X.37:g.153216312C>T						HCFC1_ENST00000369984.4_Silent_p.T1930T|HCFC1_ENST00000354233.3_Silent_p.T1816T	p.T1885T	NM_005334.2	NP_005325.2	P51610	HCFC1_HUMAN			23	6621	-	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		1885					Q6P4G5	Silent	SNP	ENST00000310441.7	37	c.5655G>A	CCDS44020.1	.	.	.	.	.	.	.	.	.	.	C	9.109	1.006190	0.19199	.	.	ENSG00000172534	ENST00000444191	.	.	.	5.64	-9.0	0.00747	.	.	.	.	.	T	0.31796	0.0808	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.39143	-0.9628	4	.	.	.	.	0.7064	0.00917	0.207:0.1984:0.2115:0.3831	.	.	.	.	M	461	.	.	V	-	1	0	HCFC1	152869506	0.000000	0.05858	0.449000	0.26957	0.894000	0.52154	-9.255000	0.00012	-1.992000	0.00975	-1.202000	0.01658	GTG		0.572	HCFC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061099.4	NM_005334		42	57	0	0	0	1	0	42	57					T	153216312	C	T	153216312	2	4	390	1	0	0	0	0	0	0	0	1	6991	523	19	1		1	HCFC1	23	153216312	Silent	SNP	C	TCGA-V1-A9OX-01A-11D-A41K-08		153216312	2054248	36	19163											
SPEN	23013	broad.mit.edu	37	chr1	16257885	16257885	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agaagctgccatgatgcctgCgggtgttgaggaaggttcat	9	10	15	7	1	1	3	1	2	0	1	1	4	1	4	2	3	4	3	2	3	2	2			TCGA-V1-A9OY-01A-11D-A41K-08	TCGA-V1-A9OY-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9454b4b6-985f-4e62-bbe9-1e61cf2e786b	7273e5ac-35e8-4188-bc14-ee745c353554	g.chr1:16257885C>T	ENST00000375759.3	+	11	5354	c.5150C>T	c.(5149-5151)gCg>gTg	p.A1717V		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	1717					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription, DNA-templated (GO:0045893)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription corepressor activity (GO:0003714)			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		ATGATGCCTGCGGGTGTTGAG	0.582																																						ENST00000375759.3																			0				NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149						c.(5149-5151)gCg>gTg		spen family transcriptional repressor							131	141	138					1																	16257885		2203	4300	6503	SO:0001583	missense	23013				interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding	g.chr1:16257885C>T		CCDS164.1	1p36	2013-10-17	2013-10-17		ENSG00000065526	ENSG00000065526		"RNA binding motif (RRM) containing"	17575	protein-coding gene	gene with protein product		613484	"SPEN homolog, transcriptional regulator (Drosophila)", "spen homolog, transcriptional regulator (Drosophila)"			10451362, 11331609	Standard	NM_015001		Approved	KIAA0929, MINT, SHARP, RBM15C	uc001axk.1	Q96T58	OTTHUMG00000009376	ENST00000375759.3:c.5150C>T	1.37:g.16257885C>T	ENSP00000364912:p.Ala1717Val						p.A1717V	NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)	11	5354	+		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)	1717					Q9H9A8|Q9NWH5|Q9UQ01|Q9Y556	Missense_Mutation	SNP	ENST00000375759.3	37	c.5150C>T	CCDS164.1	.	.	.	.	.	.	.	.	.	.	C	10.57	1.386326	0.25031	.	.	ENSG00000065526	ENST00000375759	T	0.08458	3.09	5.16	-10.3	0.00346	.	.	.	.	.	T	0.03871	0.0109	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.39292	-0.9621	9	0.24483	T	0.36	13.0822	10.7435	0.46166	0.0:0.2075:0.1581:0.6344	.	1717	Q96T58	MINT_HUMAN	V	1717	ENSP00000364912:A1717V	ENSP00000364912:A1717V	A	+	2	0	SPEN	16130472	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.713000	0.01883	-3.293000	0.00194	-0.444000	0.05651	GCG		0.582	SPEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025993.1	NM_015001		25	109	0	0	0	1	0	25	109					T	16257885	C	T	16257885	3	4	391	1	0	0	0	0	1	0	0	0	15037	768	27	1	5192	1	SPEN	1	16257885	Missense_Mutation	SNP	C	TCGA-V1-A9OY-01A-11D-A41K-08		16257885	232992736	1	19164											
MAP7D1	55700	broad.mit.edu	37	chr1	36641841	36641841	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	catgggagagcagcatcgtgGatcgtctgatgacgcccact	9	8	13	11	3	1	3	0	2	1	1	3	5	1	4	1	2	2	2	1	2	0	0			TCGA-V1-A9OY-01A-11D-A41K-08	TCGA-V1-A9OY-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9454b4b6-985f-4e62-bbe9-1e61cf2e786b	7273e5ac-35e8-4188-bc14-ee745c353554	g.chr1:36641841G>A	ENST00000373151.2	+	7	1108	c.892G>A	c.(892-894)Gat>Aat	p.D298N	MAP7D1_ENST00000373150.4_Missense_Mutation_p.D298N|MAP7D1_ENST00000373148.4_5'Flank|MAP7D1_ENST00000316156.4_Missense_Mutation_p.D261N|MAP7D1_ENST00000474796.1_3'UTR	NM_018067.3	NP_060537.3	Q3KQU3	MA7D1_HUMAN	MAP7 domain containing 1	298					microtubule cytoskeleton organization (GO:0000226)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)				breast(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(3)|skin(1)|urinary_tract(1)	19		Myeloproliferative disorder(586;0.0393)				CAGCATCGTGGATCGTCTGAT	0.677																																						ENST00000316156.4																			0				breast(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(3)|skin(1)|urinary_tract(1)	19						c.(781-783)Gat>Aat		MAP7 domain containing 1							23	26	25					1																	36641841		2164	4285	6449	SO:0001583	missense	55700					cytoplasm|spindle		g.chr1:36641841G>A	AK096341	CCDS30673.1, CCDS65492.1, CCDS65493.1	1p34.3	2008-02-05	2007-02-08	2007-02-08	ENSG00000116871	ENSG00000116871			25514	protein-coding gene	gene with protein product			"proline arginine rich coiled coil 1", "arginine/proline rich coiled-coil 1"	PARCC1, RPRC1		10574461	Standard	XM_005271024		Approved	FLJ10350, FLJ39022	uc001bzz.3	Q3KQU3	OTTHUMG00000007714	ENST00000373151.2:c.892G>A	1.37:g.36641841G>A	ENSP00000362244:p.Asp298Asn					MAP7D1_ENST00000474796.1_3'UTR|MAP7D1_ENST00000373151.2_Missense_Mutation_p.D298N|MAP7D1_ENST00000373150.4_Missense_Mutation_p.D298N	p.D261N			Q3KQU3	MA7D1_HUMAN			6	1234	+		Myeloproliferative disorder(586;0.0393)	298					D3DPS4|Q7L8J5|Q8N905|Q8TAK0|Q9HBQ2|Q9NW29|Q9ULN3	Missense_Mutation	SNP	ENST00000373151.2	37	c.781G>A	CCDS30673.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.310631	0.81358	.	.	ENSG00000116871	ENST00000316156;ENST00000373150;ENST00000373151	T;T;T	0.05580	3.42;3.42;3.42	5.3	5.3	0.74995	.	0.000000	0.39475	N	0.001360	T	0.12390	0.0301	L	0.27053	0.805	0.80722	D	1	D;D;D	0.89917	1.0;0.998;1.0	D;D;D	0.81914	0.993;0.995;0.982	T	0.05305	-1.0893	10	0.02654	T	1	-18.67	17.499	0.87726	0.0:0.0:1.0:0.0	.	261;298;298	Q3KQU3-2;Q3KQU3-4;Q3KQU3	.;.;MA7D1_HUMAN	N	261;298;298	ENSP00000320228:D261N;ENSP00000362243:D298N;ENSP00000362244:D298N	ENSP00000320228:D261N	D	+	1	0	MAP7D1	36414428	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.379000	0.97198	2.454000	0.82982	0.655000	0.94253	GAT		0.677	MAP7D1-009	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382095.1	NM_018067		5	6	0	0	0	1	0	5	6					A	36641841	G	A	36641841	3	1	391	1	0	0	0	0	1	0	0	0	9267	1174	41	3	918	3	MAP7D1	1	36641841	Missense_Mutation	SNP	G	TCGA-V1-A9OY-01A-11D-A41K-08	20383956	36641841	212608780	2	19165											
CAPN2	824	broad.mit.edu	37	chr1	223900386	223900386	+	Frame_Shift_Del	DEL	C	C	-																															ggcgaaggaccgggaggcggCcgaggggctgggctcccacg																										TCGA-V1-A9OY-01A-11D-A41K-08	TCGA-V1-A9OY-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9454b4b6-985f-4e62-bbe9-1e61cf2e786b	7273e5ac-35e8-4188-bc14-ee745c353554	g.chr1:223900386delC	ENST00000295006.5	+	1	353	c.44delC	c.(43-45)gccfs	p.A15fs	CAPN2_ENST00000433674.2_Intron	NM_001748.4	NP_001739	P17655	CAN2_HUMAN	calpain 2, (m/II) large subunit	15					blastocyst development (GO:0001824)|cellular response to amino acid stimulus (GO:0071230)|myoblast fusion (GO:0007520)|protein autoprocessing (GO:0016540)|proteolysis (GO:0006508)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of cytoskeleton organization (GO:0051493)|response to hypoxia (GO:0001666)	chromatin (GO:0000785)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)|pseudopodium (GO:0031143)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|cysteine-type peptidase activity (GO:0008234)|cytoskeletal protein binding (GO:0008092)			breast(3)|endometrium(1)|kidney(1)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|stomach(3)	29				GBM - Glioblastoma multiforme(131;0.109)		CGGGAGGCGGCCGAGGGGCTG	0.711																																						ENST00000295006.5																			0				breast(3)|endometrium(1)|kidney(1)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|stomach(3)	29						c.(43-45)gcfs		calpain 2, (m/II) large subunit							15	17	16					1																	223900386		2176	4265	6441	SO:0001589	frameshift_variant	824				proteolysis	cytoplasm|plasma membrane		g.chr1:223900386delC	J04700	CCDS31035.1, CCDS53478.1	1q41-q42	2013-01-10			ENSG00000162909	ENSG00000162909	3.4.22.52	"EF-hand domain containing"	1479	protein-coding gene	gene with protein product		114230				2852952, 2539381	Standard	NM_001748		Approved	mCANP, CANPml, CANPL2	uc001hob.4	P17655	OTTHUMG00000037376	ENST00000295006.5:c.44delC	1.37:g.223900386delC	ENSP00000295006:p.Ala15fs					CAPN2_ENST00000433674.2_Intron	p.A15fs	NM_001748.4	NP_001739.2	P17655	CAN2_HUMAN		GBM - Glioblastoma multiforme(131;0.109)	1	353	+			15					A6NDG7|B7ZA96|E7ES58|Q16738|Q6PJT3|Q8WU26|Q9HBB1	Frame_Shift_Del	DEL	ENST00000295006.5	37	c.44delC	CCDS31035.1																																																																																				0.711	CAPN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090973.1	NM_001748		2	4						2	4	---	---	---	---	-	223900386	C	-	223900386	7	5	391	1	0	1	0	1	0	0	0	0	2627	739	26	0	53	0	CAPN2	1	223900386	Frame_Shift_Del	DEL	C	TCGA-V1-A9OY-01A-11D-A41K-08	187258545	223900386	25350235	3	19166											
PER2	8864	broad.mit.edu	37	chr2	239181795	239181795	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgctccacaggggtgaccCtcgctggacatcagcagctg	7	8	12	14	1	2	1	1	1	1	0	4	2	3	2	2	3	3	4	2	3	0	0			TCGA-V1-A9OY-01A-11D-A41K-08	TCGA-V1-A9OY-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9454b4b6-985f-4e62-bbe9-1e61cf2e786b	7273e5ac-35e8-4188-bc14-ee745c353554	g.chr2:239181795C>G	ENST00000254657.3	-	5	765	c.486G>C	c.(484-486)gaG>gaC	p.E162D	PER2_ENST00000440245.1_Missense_Mutation_p.E162D|PER2_ENST00000355768.2_Missense_Mutation_p.E162D|PER2_ENST00000254658.3_Missense_Mutation_p.E162D	NM_022817.2	NP_073728.1	O15055	PER2_HUMAN	period circadian clock 2	162					circadian regulation of gene expression (GO:0032922)|circadian regulation of translation (GO:0097167)|circadian rhythm (GO:0007623)|fatty acid metabolic process (GO:0006631)|gluconeogenesis (GO:0006094)|glycogen biosynthetic process (GO:0005978)|histone H3 deacetylation (GO:0070932)|lactate biosynthetic process (GO:0019249)|negative regulation of circadian rhythm (GO:0042754)|negative regulation of DNA-templated transcription, termination (GO:0060567)|negative regulation of fat cell proliferation (GO:0070345)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of cell cycle (GO:0051726)|regulation of circadian rhythm (GO:0042752)|regulation of glutamate uptake involved in transmission of nerve impulse (GO:0051946)|regulation of insulin secretion (GO:0050796)|regulation of neurogenesis (GO:0050767)|regulation of vasoconstriction (GO:0019229)|response to ischemia (GO:0002931)|transcription, DNA-templated (GO:0006351)|white fat cell differentiation (GO:0050872)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	pre-mRNA binding (GO:0036002)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)|transcription factor binding transcription factor activity (GO:0000989)|transcription regulatory region sequence-specific DNA binding (GO:0000976)|ubiquitin binding (GO:0043130)			NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0423)|all_lung(227;0.114)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Lung NSC(271;0.223)|Hepatocellular(293;0.244)		Epithelial(121;6.84e-24)|OV - Ovarian serous cystadenocarcinoma(60;9.73e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;6.77e-05)|Lung(119;0.00941)|LUSC - Lung squamous cell carcinoma(224;0.0161)		AGGGGTGACCCTCGCTGGACA	0.567																																						ENST00000254657.3																			0				NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						c.(484-486)gaG>gaC		period circadian clock 2							83	68	73					2																	239181795		2203	4300	6503	SO:0001583	missense	8864				circadian rhythm|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	protein binding|signal transducer activity	g.chr2:239181795C>G	AB002345	CCDS2528.1	2q37.3	2012-12-13	2012-12-13		ENSG00000132326	ENSG00000132326			8846	protein-coding gene	gene with protein product		603426	"period (Drosophila) homolog 2", "period homolog 2 (Drosophila)"			9427249, 17218255	Standard	NM_022817		Approved	KIAA0347	uc002vyc.3	O15055	OTTHUMG00000152884	ENST00000254657.3:c.486G>C	2.37:g.239181795C>G	ENSP00000254657:p.Glu162Asp					PER2_ENST00000440245.1_Missense_Mutation_p.E162D|PER2_ENST00000355768.2_Missense_Mutation_p.E162D|PER2_ENST00000254658.3_Missense_Mutation_p.E162D	p.E162D	NM_022817.2	NP_073728.1	O15055	PER2_HUMAN		Epithelial(121;6.84e-24)|OV - Ovarian serous cystadenocarcinoma(60;9.73e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;6.77e-05)|Lung(119;0.00941)|LUSC - Lung squamous cell carcinoma(224;0.0161)	5	765	-		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0423)|all_lung(227;0.114)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Lung NSC(271;0.223)|Hepatocellular(293;0.244)	162					A2I2P7|Q4ZG49|Q6DT41|Q9UQ45	Missense_Mutation	SNP	ENST00000254657.3	37	c.486G>C	CCDS2528.1	.	.	.	.	.	.	.	.	.	.	C	10.37	1.331319	0.24167	.	.	ENSG00000132326	ENST00000254657;ENST00000254658;ENST00000440245;ENST00000355768	T;T;T;T	0.50548	2.75;0.74;1.84;0.74	4.81	0.632	0.17705	.	0.470425	0.25189	N	0.032465	T	0.52853	0.1760	L	0.42245	1.32	0.27718	N	0.945222	B;D;B;B	0.64830	0.228;0.994;0.008;0.008	B;D;B;B	0.70716	0.117;0.97;0.044;0.029	T	0.43294	-0.9400	10	0.33141	T	0.24	-18.5789	9.1613	0.37023	0.0:0.4539:0.4559:0.0902	.	162;162;162;162	F5GYD5;B4DH14;O15055-2;O15055	.;.;.;PER2_HUMAN	D	162	ENSP00000254657:E162D;ENSP00000254658:E162D;ENSP00000397516:E162D;ENSP00000348013:E162D	ENSP00000254657:E162D	E	-	3	2	PER2	238846534	0.996000	0.38824	0.101000	0.21167	0.613000	0.37349	0.724000	0.25954	0.529000	0.28599	0.655000	0.94253	GAG		0.567	PER2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257167.1	NM_022817		3	34	0	0	0	1	0	3	34					G	239181795	C	G	239181795	3	3	391	1	0	0	0	0	1	0	0	0	11730	680	24	5	3357	5	PER2	2	239181795	Missense_Mutation	SNP	C	TCGA-V1-A9OY-01A-11D-A41K-08		239181795	4017578	4	19167											
SRGAP3	9901	broad.mit.edu	37	chr3	9032419	9032420	+	Frame_Shift_Ins	INS	-	-	G																															gctggggcaggcagcagcccINSggggtggtgtgtctatgctg																										TCGA-V1-A9OY-01A-11D-A41K-08	TCGA-V1-A9OY-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9454b4b6-985f-4e62-bbe9-1e61cf2e786b	7273e5ac-35e8-4188-bc14-ee745c353554	g.chr3:9032419_9032420insG	ENST00000383836.3	-	21	3089_3090	c.2662_2663insC	c.(2662-2664)cggfs	p.R888fs	SRGAP3_ENST00000360413.3_Frame_Shift_Ins_p.R864fs	NM_014850.3	NP_055665.1	O43295	SRGP3_HUMAN	SLIT-ROBO Rho GTPase activating protein 3	888					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)		SRGAP3/RAF1(6)	breast(1)|endometrium(2)|kidney(21)|large_intestine(7)|lung(13)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	54				OV - Ovarian serous cystadenocarcinoma(96;0.0563)		GGCAGCAGCCCGGGGTGGTGTG	0.703			T	RAF1	pilocytic astrocytoma																																	ENST00000383836.3				Dom	yes		3	3p25.3	9901	T	SLIT-ROBO Rho GTPase activating protein 3			M	RAF1		pilocytic astrocytoma	SRGAP3/RAF1(6)	0				breast(1)|endometrium(2)|kidney(21)|large_intestine(7)|lung(13)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	54						c.(2662-2664)ggcfs		SLIT-ROBO Rho GTPase activating protein 3																																				SO:0001589	frameshift_variant	9901				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding	g.chr3:9032419_9032420insG	AB007871	CCDS2572.1, CCDS33689.1	3p25.3	2011-07-04	2004-11-12	2004-11-12	ENSG00000196220	ENSG00000196220		"Rho GTPase activating proteins"	19744	protein-coding gene	gene with protein product		606525	"SLIT-ROBO Rho GTPase activating protein 2"	SRGAP2		12195014	Standard	NM_014850		Approved	KIAA0411, MEGAP, WRP, ARHGAP14	uc003brf.2	O43295	OTTHUMG00000090589	ENST00000383836.3:c.2663dupC	3.37:g.9032423_9032423dupG	ENSP00000373347:p.Arg888fs					SRGAP3_ENST00000360413.3_Frame_Shift_Ins_p.G864fs	p.G888fs	NM_014850.3	NP_055665.1	O43295	SRGP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(96;0.0563)	21	3089_3090	-			888					Q8IX13|Q8IZV8	Frame_Shift_Ins	INS	ENST00000383836.3	37	c.2662_2663insC	CCDS2572.1																																																																																				0.703	SRGAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207137.3			3	5						3	5	---	---	---	---	G	9032420	-	G	9032419	7	5	391	1	0	1	1	0	0	0	0	0	15146	652	23	0	644	0	SRGAP3	3	9032419	Frame_Shift_Ins	INS	-	TCGA-V1-A9OY-01A-11D-A41K-08		9032419	188990011	5	19168											
CLASP2	23122	broad.mit.edu	37	chr3	33557515	33557515	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttaccggccaggtaacttacCtccttatgaggatctttatg	9	14	8	10	1	1	1	0	1	1	0	2	2	2	2	4	3	3	1	4	3	5	6			TCGA-V1-A9OY-01A-11D-A41K-08	TCGA-V1-A9OY-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9454b4b6-985f-4e62-bbe9-1e61cf2e786b	7273e5ac-35e8-4188-bc14-ee745c353554	g.chr3:33557515C>T	ENST00000468888.2	-	36	4180	c.4134G>A	c.(4132-4134)gaG>gaA	p.E1378E	CLASP2_ENST00000480013.1_Splice_Site_p.E1157E|CLASP2_ENST00000359576.5_Splice_Site_p.E1369E|CLASP2_ENST00000307312.7_Splice_Site_p.E859E|CLASP2_ENST00000461133.3_Splice_Site_p.E1137E|CLASP2_ENST00000399362.4_Splice_Site_p.E1377E|CLASP2_ENST00000539981.1_3'UTR			O75122	CLAP2_HUMAN	cytoplasmic linker associated protein 2	1158					axon guidance (GO:0007411)|establishment or maintenance of cell polarity (GO:0007163)|fucosylation (GO:0036065)|microtubule anchoring (GO:0034453)|microtubule nucleation (GO:0007020)|microtubule organizing center organization (GO:0031023)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of microtubule depolymerization (GO:0007026)|regulation of microtubule polymerization or depolymerization (GO:0031110)|regulation of microtubule-based process (GO:0032886)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|kinetochore (GO:0000776)|kinetochore microtubule (GO:0005828)|membrane (GO:0016020)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|trans-Golgi network (GO:0005802)	galactoside 2-alpha-L-fucosyltransferase activity (GO:0008107)|microtubule plus-end binding (GO:0051010)			breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	48						GGTAACTTACCTCCTTATGAG	0.318																																						ENST00000399362.4																			0				breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	48						c.e36+1		cytoplasmic linker associated protein 2							101	95	97					3																	33557515		1833	4086	5919	SO:0001630	splice_region_variant	23122							g.chr3:33557515C>T	AB014527		3p24.3	2013-01-18			ENSG00000163539	ENSG00000163539			17078	protein-coding gene	gene with protein product		605853				9734811, 10899121	Standard	NM_015097		Approved	KIAA0627	uc021wvc.1	O75122	OTTHUMG00000156489	ENST00000468888.2:c.4134+1G>A	3.37:g.33557515C>T						CLASP2_ENST00000307312.7_Splice_Site_p.E859_splice|CLASP2_ENST00000480013.1_Splice_Site_p.E1157_splice|CLASP2_ENST00000359576.5_Splice_Site_p.E1369_splice|CLASP2_ENST00000539981.1_3'UTR|CLASP2_ENST00000461133.3_Splice_Site_p.E1137_splice|CLASP2_ENST00000468888.2_Splice_Site_p.E1378_splice	p.E1377_splice	NM_015097.2	NP_055912.2	B2RTR1	B2RTR1_HUMAN			36	4484	-			1379					Q7L8F6|Q8N6R6|Q9BQT3|Q9BQT4|Q9H7A3|Q9NSZ2	Splice_Site	SNP	ENST00000468888.2	37	c.4131_splice		.	.	.	.	.	.	.	.	.	.	C	13.53	2.263991	0.39995	.	.	ENSG00000163539	ENST00000487553	.	.	.	5.03	5.03	0.67393	.	.	.	.	.	T	0.74450	0.3718	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.73344	-0.4012	4	.	.	.	-18.7248	18.5544	0.91079	0.0:1.0:0.0:0.0	.	.	.	.	R	153	.	.	G	-	1	0	CLASP2	33532519	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	5.556000	0.67307	2.611000	0.88343	0.563000	0.77884	GGG		0.318	CLASP2-001	NOVEL	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000344320.4	NM_001207044	Silent	4	18	0	0	0	1	0	4	18					T	33557515	C	T	33557515	5	4	391	1	0	0	0	0	0	0	1	0	3455	695	24	3	426	3	CLASP2	3	33557515	Splice_Site	SNP	C	TCGA-V1-A9OY-01A-11D-A41K-08	24525096	33557515	164464915	6	19169											
GMPPB	29925	broad.mit.edu	37	chr3	49759417	49759417	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cccactgacccacgcggcagCgccagcccacaatgcaggac	10	2	10	19	3	0	1	0	1	0	0	0	2	0	2	4	2	3	2	4	2	1	0			TCGA-V1-A9OY-01A-11D-A41K-08	TCGA-V1-A9OY-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9454b4b6-985f-4e62-bbe9-1e61cf2e786b	7273e5ac-35e8-4188-bc14-ee745c353554	g.chr3:49759417C>T	ENST00000480687.1	-	9	1048	c.932G>A	c.(931-933)cGc>cAc	p.R311H	AMIGO3_ENST00000320431.7_5'Flank|GMPPB_ENST00000308388.6_Missense_Mutation_p.R311H|AMIGO3_ENST00000535833.1_5'UTR|GMPPB_ENST00000308375.6_Missense_Mutation_p.R311H			Q9Y5P6	GMPPB_HUMAN	GDP-mannose pyrophosphorylase B	311					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|GDP-mannose biosynthetic process (GO:0009298)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)|mannose-1-phosphate guanylyltransferase activity (GO:0004475)			endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|skin(1)	6				BRCA - Breast invasive adenocarcinoma(193;4.53e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		CACGCGGCAGCGCCAGCCCAC	0.662																																						ENST00000480687.1																			0				endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|skin(1)	6						c.(931-933)cGc>cAc		GDP-mannose pyrophosphorylase B							66	59	62					3																	49759417		2203	4300	6503	SO:0001583	missense	29925				dolichol-linked oligosaccharide biosynthetic process|GDP-mannose biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine		GTP binding|mannose-1-phosphate guanylyltransferase activity	g.chr3:49759417C>T	AF135421	CCDS2802.1, CCDS2803.1	3p21.31	2008-02-05			ENSG00000173540	ENSG00000173540	2.7.7.22		22932	protein-coding gene	gene with protein product		615320					Standard	NM_013334		Approved	KIAA1851	uc003cxl.1	Q9Y5P6	OTTHUMG00000158151	ENST00000480687.1:c.932G>A	3.37:g.49759417C>T	ENSP00000418565:p.Arg311His					GMPPB_ENST00000308388.6_Missense_Mutation_p.R311H|GMPPB_ENST00000308375.6_Missense_Mutation_p.R311H|AMIGO3_ENST00000535833.1_5'UTR	p.R311H			Q9Y5P6	GMPPB_HUMAN		BRCA - Breast invasive adenocarcinoma(193;4.53e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	9	1048	-			311					A8K6N5|Q9H7U3	Missense_Mutation	SNP	ENST00000480687.1	37	c.932G>A	CCDS2803.1	.	.	.	.	.	.	.	.	.	.	C	14.62	2.589875	0.46214	.	.	ENSG00000173540	ENST00000480687;ENST00000308375;ENST00000308388	T;T;T	0.73897	-0.76;-0.79;-0.76	4.98	4.98	0.66077	.	0.042701	0.85682	D	0.000000	T	0.64450	0.2599	N	0.25825	0.765	0.58432	D	0.999997	B;B	0.11235	0.003;0.004	B;B	0.10450	0.005;0.001	T	0.58875	-0.7559	10	0.33940	T	0.23	-28.5085	17.425	0.87524	0.0:1.0:0.0:0.0	.	311;311	Q9Y5P6-2;Q9Y5P6	.;GMPPB_HUMAN	H	311	ENSP00000418565:R311H;ENSP00000309092:R311H;ENSP00000311130:R311H	ENSP00000309092:R311H	R	-	2	0	GMPPB	49734421	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	3.790000	0.55461	2.579000	0.87056	0.561000	0.74099	CGC		0.662	GMPPB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350291.1	NM_013334		6	25	0	0	0	1	0	6	25					T	49759417	C	T	49759417	3	4	391	1	0	0	0	0	1	0	0	0	6495	768	27	1	235	1	GMPPB	3	49759417	Missense_Mutation	SNP	C	TCGA-V1-A9OY-01A-11D-A41K-08	16201902	49759417	148263013	7	19170											
GNL3	26354	broad.mit.edu	37	chr3	52720844	52720845	+	Splice_Site	DNP	GT	GT	TC																															ggtataaaatccaaaaaaagGtaagtgtagtgcttgagaga																										TCGA-V1-A9OY-01A-11D-A41K-08	TCGA-V1-A9OY-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9454b4b6-985f-4e62-bbe9-1e61cf2e786b	7273e5ac-35e8-4188-bc14-ee745c353554	g.chr3:52720844_52720845GT>TC	ENST00000418458.1	+	2	245		c.e2+1		SNORD19_ENST00000391191.1_RNA|GNL3_ENST00000394799.2_Splice_Site|PBRM1_ENST00000394830.3_5'Flank|GNL3_ENST00000460073.1_Intron|SNORD19B_ENST00000516978.1_RNA	NM_014366.4|NM_206826.1	NP_055181.3|NP_996562.1	Q9BVP2	GNL3_HUMAN	guanine nucleotide binding protein-like 3 (nucleolar)						cell proliferation (GO:0008283)|GTP catabolic process (GO:0006184)|regulation of cell proliferation (GO:0042127)|ribosome biogenesis (GO:0042254)	extracellular space (GO:0005615)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)			breast(4)|endometrium(3)|large_intestine(3)|lung(2)	12				BRCA - Breast invasive adenocarcinoma(193;6.75e-05)|Kidney(197;0.000611)|KIRC - Kidney renal clear cell carcinoma(197;0.000773)|OV - Ovarian serous cystadenocarcinoma(275;0.048)		CCAAAAAAAGGTAAGTGTAGTG	0.386																																						ENST00000394799.2																			0				breast(4)|endometrium(3)|large_intestine(3)|lung(2)	12						c.e2+1|c.e2+2		guanine nucleotide binding protein-like 3 (nucleolar)																																				SO:0001630	splice_region_variant	26354				regulation of cell proliferation	nucleolus	GTP binding|protein binding	g.chr3:52720844G>T|g.chr3:52720845T>C	AK027514	CCDS2861.1, CCDS43100.1	3p21.1	2005-01-10			ENSG00000163938	ENSG00000163938			29931	protein-coding gene	gene with protein product		608011				11085516, 12464630	Standard	NM_014366		Approved	C77032, E2IG3, MGC800, NS, nucleostemin	uc003dfd.3	Q9BVP2	OTTHUMG00000158752	Exception_encountered	3.37:g.52720844_52720845delinsTC						GNL3_ENST00000460073.1_Intron|GNL3_ENST00000418458.1_Splice_Site		NM_206825.1	NP_996561.1	Q9BVP2	GNL3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;6.75e-05)|Kidney(197;0.000611)|KIRC - Kidney renal clear cell carcinoma(197;0.000773)|OV - Ovarian serous cystadenocarcinoma(275;0.048)	2	246	+								B2RDC1|Q5PU80|Q96SV6|Q96SV7|Q9UJY0	Splice_Site	SNP	ENST00000418458.1	37		CCDS2861.1																																																																																				0.386	GNL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352032.1	NM_014366	Intron	7	32|30	1|0	0	3.09899e-07|0	1	3.25791e-07|0	7	30					TC	52720845	GT	TC	52720844	5	4	391	1	0	0	0	0	0	0	1	0	6537	1275	44	5	79	5	GNL3	3	52720844	Splice_Site	DNP	GT	TCGA-V1-A9OY-01A-11D-A41K-08	2961427	52720844	145301586	8	19171											
PKHD1	5314	broad.mit.edu	37	chr6	51947999	51947999	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caaaaatgactgtgatccacGttccccctgcaaggctacct	11	9	7	14	1	0	2	0	2	0	0	2	2	2	2	4	1	2	3	4	1	4	2	rs137852944		TCGA-V1-A9OY-01A-11D-A41K-08	TCGA-V1-A9OY-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9454b4b6-985f-4e62-bbe9-1e61cf2e786b	7273e5ac-35e8-4188-bc14-ee745c353554	g.chr6:51947999G>A	ENST00000371117.3	-	3	382	c.107C>T	c.(106-108)aCg>aTg	p.T36M	PKHD1_ENST00000340994.4_Missense_Mutation_p.T36M	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	36	IPT/TIG 1; atypical.		T -> M (in ARPKD; common mutation; dbSNP:rs28939383). {ECO:0000269|PubMed:11898128, ECO:0000269|PubMed:11919560, ECO:0000269|PubMed:12506140, ECO:0000269|PubMed:12846734, ECO:0000269|PubMed:12874454, ECO:0000269|PubMed:15108281}.		cellular calcium ion homeostasis (GO:0006874)|cilium assembly (GO:0042384)|homeostatic process (GO:0042592)|kidney development (GO:0001822)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular component movement (GO:0051271)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of cell proliferation (GO:0008284)|regulation of centrosome duplication (GO:0010824)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of TOR signaling (GO:0032006)|single organismal cell-cell adhesion (GO:0016337)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|primary cilium (GO:0072372)	receptor activity (GO:0004872)			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					TGTGATCCACGTTCCCCCTGC	0.393													G|||	1	0.000199681	0	0	5008	,	,		22118	0		0	False		,,,				2504	0.001					ENST00000371117.3																			0				NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	GRCh37	CM020490	PKHD1	M	rs137852944	c.(106-108)aCg>aTg		polycystic kidney and hepatic disease 1 (autosomal recessive)		G	MET/THR,MET/THR	1,4405	2.1+/-5.4	0,1,2202	141	117	125	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	107,107	5.5	0.9	6	dbSNP_133	125	3,8597	3.0+/-9.4	0,3,4297	yes	missense,missense	PKHD1	NM_138694.3,NM_170724.2	81,81	0,4,6499	AA,AG,GG		0.0349,0.0227,0.0308	probably-damaging,probably-damaging	36/4075,36/3397	51947999	4,13002	2203	4300	6503	SO:0001583	missense	5314				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity	g.chr6:51947999G>A	AF480064	CCDS4935.1, CCDS4936.1	6p21.2-p12	2012-11-26	2003-04-16		ENSG00000170927	ENSG00000170927			9016	protein-coding gene	gene with protein product	"tigmin", "polyductin", "fibrocystin"	606702	"TIG multiple domains 1"	TIGM1		9503014	Standard	NM_138694		Approved	ARPKD, FCYT	uc003pah.1	P08F94	OTTHUMG00000014841	ENST00000371117.3:c.107C>T	6.37:g.51947999G>A	ENSP00000360158:p.Thr36Met					PKHD1_ENST00000340994.4_Missense_Mutation_p.T36M	p.T36M	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN			3	382	-	Lung NSC(77;0.0605)		36		T -> M (in ARPKD; common mutation; dbSNP:rs28939383).	IPT/TIG 1; atypical.		Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Missense_Mutation	SNP	ENST00000371117.3	37	c.107C>T	CCDS4935.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	21.3	4.127301	0.77549	2.27E-4	3.49E-4	ENSG00000170927	ENST00000371117;ENST00000340994;ENST00000393616	D;D	0.91996	-2.75;-2.95	5.51	5.51	0.81932	.	0.000000	0.64402	D	0.000003	D	0.94716	0.8295	M	0.63843	1.955	0.33698	A	0.614121	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.972	D	0.95125	0.8250	9	0.87932	D	0	.	16.5687	0.84605	0.0:0.0:1.0:0.0	rs28939383	36;36	P08F94-2;P08F94	.;PKHD1_HUMAN	M	36	ENSP00000360158:T36M;ENSP00000341097:T36M	ENSP00000341097:T36M	T	-	2	0	PKHD1	52055958	1.000000	0.71417	0.940000	0.37924	0.981000	0.71138	5.608000	0.67654	2.605000	0.88082	0.563000	0.77884	ACG		0.393	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040893.1	NM_138694		4	75	0	0	0	1	0	4	75					A	51947999	G	A	51947999	3	1	391	1	0	0	0	0	1	0	0	0	11971	1145	40	1	12416	1	PKHD1	6	51947999	Missense_Mutation	SNP	G	TCGA-V1-A9OY-01A-11D-A41K-08		51947999	119167068	9	19172											
HTR1E	3354	broad.mit.edu	37	chr6	87725081	87725081	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cacaaactgtaccacagaggCcagcatggctataagaccca	15	5	8	13	0	0	2	0	0	0	2	0	2	0	2	3	2	3	3	3	2	4	3			TCGA-V1-A9OY-01A-11D-A41K-08	TCGA-V1-A9OY-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9454b4b6-985f-4e62-bbe9-1e61cf2e786b	7273e5ac-35e8-4188-bc14-ee745c353554	g.chr6:87725081C>T	ENST00000305344.5	+	2	732	c.29C>T	c.(28-30)gCc>gTc	p.A10V		NM_000865.2	NP_000856.1	P28566	5HT1E_HUMAN	5-hydroxytryptamine (serotonin) receptor 1E, G protein-coupled	10					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|negative regulation of cAMP metabolic process (GO:0030815)|serotonin receptor signaling pathway (GO:0007210)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)			breast(3)|endometrium(2)|kidney(3)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(3)	41		all_cancers(76;7.11e-06)|Acute lymphoblastic leukemia(125;1.2e-09)|Prostate(29;3.51e-09)|all_hematologic(105;7.43e-06)|all_epithelial(107;0.00819)		BRCA - Breast invasive adenocarcinoma(108;0.055)	Aripiprazole(DB01238)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Ketamine(DB01221)|Loxapine(DB00408)|Methysergide(DB00247)|Olanzapine(DB00334)|Quetiapine(DB01224)|Ziprasidone(DB00246)	ACCACAGAGGCCAGCATGGCT	0.468																																						ENST00000305344.4																			0				breast(3)|endometrium(2)|kidney(3)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(3)	41						c.(28-30)gCc>gTc		5-hydroxytryptamine (serotonin) receptor 1E, G protein-coupled	Eletriptan(DB00216)						118	100	106					6																	87725081		2203	4300	6503	SO:0001583	missense	3354				G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	protein binding|serotonin binding|serotonin receptor activity	g.chr6:87725081C>T		CCDS5006.1	6q14-q15	2013-06-19	2012-02-03		ENSG00000168830	ENSG00000168830		"5-HT (serotonin) receptors", "GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"	5291	protein-coding gene	gene with protein product		182132	"5-hydroxytryptamine (serotonin) receptor 1E"			1608964	Standard	NM_000865		Approved	5-HT1E	uc003pli.3	P28566	OTTHUMG00000015154	ENST00000305344.5:c.29C>T	6.37:g.87725081C>T	ENSP00000307766:p.Ala10Val					HTR1E_ENST00000369584.1_Missense_Mutation_p.A10V	p.A10V	NM_000865.2	NP_000856.1	P28566	5HT1E_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.055)	2	732	+		all_cancers(76;7.11e-06)|Acute lymphoblastic leukemia(125;1.2e-09)|Prostate(29;3.51e-09)|all_hematologic(105;7.43e-06)|all_epithelial(107;0.00819)	10					E1P503|Q9P1Y1	Missense_Mutation	SNP	ENST00000305344.5	37	c.29C>T	CCDS5006.1	.	.	.	.	.	.	.	.	.	.	C	3.811	-0.039769	0.07497	.	.	ENSG00000168830	ENST00000305344;ENST00000369584	T;T	0.66815	-0.23;-0.23	3.87	2.96	0.34315	.	0.232319	0.26499	U	0.024026	T	0.23171	0.0560	N	0.08118	0	0.29603	N	0.847498	B	0.17038	0.02	B	0.10450	0.005	T	0.12243	-1.0555	10	0.25106	T	0.35	.	11.2122	0.48806	0.1837:0.8163:0.0:0.0	.	10	P28566	5HT1E_HUMAN	V	10	ENSP00000307766:A10V;ENSP00000358597:A10V	ENSP00000307766:A10V	A	+	2	0	HTR1E	87781800	0.972000	0.33761	0.971000	0.41717	0.270000	0.26580	2.219000	0.42899	0.910000	0.36722	0.508000	0.49915	GCC		0.468	HTR1E-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000472488.2	NM_000865		6	20	0	0	0	1	0	6	20					T	87725081	C	T	87725081	3	4	391	1	0	0	0	0	1	0	0	0	7439	739	26	3	31	3	HTR1E	6	87725081	Missense_Mutation	SNP	C	TCGA-V1-A9OY-01A-11D-A41K-08	35777082	87725081	83389986	10	19173											
L3MBTL3	84456	broad.mit.edu	37	chr6	130387569	130387569	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacttctgggtgaatgcagaCgctctggatatccacccagt	9	10	11	11	1	2	2	0	1	2	1	3	4	3	3	2	2	1	2	2	2	2	2	rs139205810	byFrequency	TCGA-V1-A9OY-01A-11D-A41K-08	TCGA-V1-A9OY-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9454b4b6-985f-4e62-bbe9-1e61cf2e786b	7273e5ac-35e8-4188-bc14-ee745c353554	g.chr6:130387569C>T	ENST00000529410.1	+	13	1415	c.936C>T	c.(934-936)gaC>gaT	p.D312D	L3MBTL3_ENST00000368139.2_Silent_p.D287D|L3MBTL3_ENST00000361794.2_Silent_p.D312D|L3MBTL3_ENST00000368136.2_Silent_p.D312D|L3MBTL3_ENST00000533560.1_Silent_p.D287D|L3MBTL3_ENST00000526019.1_Silent_p.D287D			Q96JM7	LMBL3_HUMAN	l(3)mbt-like 3 (Drosophila)	312					chromatin modification (GO:0016568)|erythrocyte maturation (GO:0043249)|granulocyte differentiation (GO:0030851)|macrophage differentiation (GO:0030225)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				cervix(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|skin(4)|stomach(1)|urinary_tract(1)	43				GBM - Glioblastoma multiforme(226;0.0266)|OV - Ovarian serous cystadenocarcinoma(155;0.154)		TGAATGCAGACGCTCTGGATA	0.403																																						ENST00000529410.1																			0				cervix(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|skin(4)|stomach(1)|urinary_tract(1)	43						c.(934-936)gaC>gaT		l(3)mbt-like 3 (Drosophila)		C	,	2,4404	4.2+/-10.8	0,2,2201	90	90	90		861,936	-10.8	0.4	6	dbSNP_134	90	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	L3MBTL3	NM_001007102.2,NM_032438.2	,	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	,	287/756,312/781	130387569	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	84456				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chr6:130387569C>T	AB058701	CCDS34537.1, CCDS34538.1	6q23	2013-01-10			ENSG00000198945	ENSG00000198945		"Sterile alpha motif (SAM) domain containing"	23035	protein-coding gene	gene with protein product							Standard	NM_032438		Approved	KIAA1798	uc003qbt.3	Q96JM7	OTTHUMG00000015554	ENST00000529410.1:c.936C>T	6.37:g.130387569C>T						L3MBTL3_ENST00000361794.2_Silent_p.D312D|L3MBTL3_ENST00000368136.2_Silent_p.D312D|L3MBTL3_ENST00000368139.2_Silent_p.D287D|L3MBTL3_ENST00000526019.1_Silent_p.D287D|L3MBTL3_ENST00000533560.1_Silent_p.D287D	p.D312D			Q96JM7	LMBL3_HUMAN		GBM - Glioblastoma multiforme(226;0.0266)|OV - Ovarian serous cystadenocarcinoma(155;0.154)	13	1415	+			312					Q4VXE1|Q5VUM9|Q6P9B5	Silent	SNP	ENST00000529410.1	37	c.936C>T	CCDS34537.1																																																																																				0.403	L3MBTL3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042195.2	XM_027074		18	79	0	0	0	1	0	18	79					T	130387569	C	T	130387569	2	4	391	1	0	0	0	0	0	0	0	1	8593	535	19	1		1	L3MBTL3	6	130387569	Silent	SNP	C	TCGA-V1-A9OY-01A-11D-A41K-08	42662488	130387569	40727498	11	19174											
PDP1	54704	broad.mit.edu	37	chr8	94934324	94934324	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aactgttttttcctctcatcCgtaactgtgaactgagcagg	9	14	8	10	1	1	2	1	2	1	0	4	2	3	2	2	1	4	3	2	1	3	4			TCGA-V1-A9OY-01A-11D-A41K-08	TCGA-V1-A9OY-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9454b4b6-985f-4e62-bbe9-1e61cf2e786b	7273e5ac-35e8-4188-bc14-ee745c353554	g.chr8:94934324C>G	ENST00000297598.4	+	2	306	c.37C>G	c.(37-39)Cgt>Ggt	p.R13G	PDP1_ENST00000517764.1_Missense_Mutation_p.R13G|PDP1_ENST00000396200.3_Missense_Mutation_p.R38G|PDP1_ENST00000520728.1_Missense_Mutation_p.R13G	NM_001161781.1|NM_018444.3	NP_001155253.1|NP_060914.2	Q9P0J1	PDP1_HUMAN	pyruvate dehyrogenase phosphatase catalytic subunit 1	13					cellular metabolic process (GO:0044237)|peptidyl-threonine dephosphorylation (GO:0035970)|pyruvate metabolic process (GO:0006090)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)	[pyruvate dehydrogenase (lipoamide)] phosphatase activity (GO:0004741)|metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|liver(1)|lung(5)|ovary(1)|pancreas(1)|skin(2)	18						TCCTCTCATCCGTAACTGTGA	0.473																																						ENST00000396200.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|liver(1)|lung(5)|ovary(1)|pancreas(1)|skin(2)	18						c.(112-114)Cgt>Ggt		pyruvate dehyrogenase phosphatase catalytic subunit 1							167	151	157					8																	94934324		2203	4300	6503	SO:0001583	missense	54704				pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix|protein serine/threonine phosphatase complex	[pyruvate dehydrogenase (lipoamide)] phosphatase activity	g.chr8:94934324C>G	AF155661	CCDS6259.1, CCDS55262.1	8q22.1	2012-04-17	2009-06-12	2009-06-12	ENSG00000164951	ENSG00000164951	3.1.3.43	"Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"	9279	protein-coding gene	gene with protein product		605993	"protein phosphatase 2C, magnesium-dependent, catalytic subunit"	PPM2C		8396421	Standard	NM_001161779		Approved	PDP, PDH	uc003ygf.3	Q9P0J1		ENST00000297598.4:c.37C>G	8.37:g.94934324C>G	ENSP00000297598:p.Arg13Gly					PDP1_ENST00000517764.1_Missense_Mutation_p.R13G|PDP1_ENST00000520728.1_Missense_Mutation_p.R13G|PDP1_ENST00000297598.4_Missense_Mutation_p.R13G	p.R38G	NM_001161779.1	NP_001155251.1	Q9P0J1	PDP1_HUMAN			3	388	+			13					B3KX71|J3KPU0|Q5U5K1	Missense_Mutation	SNP	ENST00000297598.4	37	c.112C>G	CCDS6259.1	.	.	.	.	.	.	.	.	.	.	C	11.55	1.673522	0.29693	.	.	ENSG00000164951	ENST00000297598;ENST00000520614;ENST00000520728;ENST00000518107;ENST00000396200;ENST00000518573;ENST00000517764;ENST00000518827;ENST00000521144	T;T;T;T	0.53423	0.69;0.69;0.62;0.69	6.16	6.16	0.99307	.	0.135816	0.47093	D	0.000251	T	0.39911	0.1096	L	0.44542	1.39	0.44323	D	0.997203	P;B	0.39737	0.685;0.206	B;B	0.32393	0.145;0.019	T	0.40059	-0.9583	10	0.72032	D	0.01	-15.1349	15.5636	0.76269	0.1378:0.8622:0.0:0.0	.	64;13	B4DYX8;Q9P0J1	.;PDP1_HUMAN	G	13;13;13;13;38;13;13;13;13	ENSP00000297598:R13G;ENSP00000428317:R13G;ENSP00000379503:R38G;ENSP00000430380:R13G	ENSP00000297598:R13G	R	+	1	0	PDP1	95003500	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.978000	0.56881	2.937000	0.99478	0.650000	0.86243	CGT		0.473	PDP1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000378415.2	NM_018444		10	56	0	0	0	1	0	10	56					G	94934324	C	G	94934324	3	3	391	1	0	0	0	0	1	0	0	0	11685	652	23	5	220	5	PDP1	8	94934324	Missense_Mutation	SNP	C	TCGA-V1-A9OY-01A-11D-A41K-08		94934324	51429698	12	19175											
MLLT3	4300	broad.mit.edu	37	chr9	20414352	20414352	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgctgctgctactgctgctGctgctgctgctgctgctgct	1	14	12	14	0	0	0	0	0	0	0	0	0	0	0	0	0	13	12	0	0	1	1			TCGA-V1-A9OY-01A-11D-A41K-08	TCGA-V1-A9OY-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9454b4b6-985f-4e62-bbe9-1e61cf2e786b	7273e5ac-35e8-4188-bc14-ee745c353554	g.chr9:20414352G>A	ENST00000380338.4	-	5	778	c.492C>T	c.(490-492)agC>agT	p.S164S	MLLT3_ENST00000429426.2_Silent_p.S161S|MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000475957.1_5'UTR	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	164	Poly-Ser.				anterior/posterior pattern specification (GO:0009952)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|regulation of transcription, DNA-templated (GO:0006355)|segment specification (GO:0007379)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)				central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		tactgctgctgctgctgctgc	0.537			T	MLL	ALL																																	ENST00000380338.4				Dom	yes		9	9p22	4300	T	"myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 (AF9)"			L	MLL		ALL		0				central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66						c.(490-492)agC>agT		myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3																																				SO:0001819	synonymous_variant	4300				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	g.chr9:20414352G>A	L13744	CCDS6494.1	9p22	2008-02-05	2001-11-28		ENSG00000171843	ENSG00000171843			7136	protein-coding gene	gene with protein product		159558	"myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 3"			8506309, 8414510	Standard	NM_001286691		Approved	AF-9, AF9, YEATS3	uc003zoe.2	P42568	OTTHUMG00000019650	ENST00000380338.4:c.492C>T	9.37:g.20414352G>A						MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S161S	p.S164S	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN		GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)	5	778	-			164			Poly-Ser.		B1AMQ2|B2R7B3|B7Z755|D3DRJ8|Q8IVB0	Silent	SNP	ENST00000380338.4	37	c.492C>T	CCDS6494.1																																																																																				0.537	MLLT3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051872.1	NM_004529		5	50	0	0	0	1	0	5	50					A	20414352	G	A	20414352	2	1	391	1	0	0	0	0	0	0	0	1	9628	1310	46	3		3	MLLT3	9	20414352	Silent	SNP	G	TCGA-V1-A9OY-01A-11D-A41K-08		20414352	120799079	13	19176											
PHYH	5264	broad.mit.edu	37	chr10	13325695	13325695	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aatgtgaatgcttaccttccGgaatccctgggttttattct	8	16	8	9	1	1	1	0	1	1	0	3	2	3	2	3	2	2	2	3	2	5	5	rs104894178	byFrequency	TCGA-V1-A9OY-01A-11D-A41K-08	TCGA-V1-A9OY-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9454b4b6-985f-4e62-bbe9-1e61cf2e786b	7273e5ac-35e8-4188-bc14-ee745c353554	g.chr10:13325695G>A	ENST00000263038.4	-	7	881	c.823C>T	c.(823-825)Cgg>Tgg	p.R275W	PHYH_ENST00000396920.3_Missense_Mutation_p.R258W|PHYH_ENST00000396913.2_Missense_Mutation_p.R175W	NM_006214.3	NP_006205.1	O14832	PAHX_HUMAN	phytanoyl-CoA 2-hydroxylase	275			R -> Q (in RD; total loss of activity; dbSNP:rs28939674). {ECO:0000269|PubMed:10767344}.|R -> W (in RD; total loss of activity; dbSNP:rs28939671). {ECO:0000269|PubMed:10767344, ECO:0000269|PubMed:9326939}.		cellular lipid metabolic process (GO:0044255)|fatty acid alpha-oxidation (GO:0001561)|isoprenoid metabolic process (GO:0006720)|methyl-branched fatty acid metabolic process (GO:0097089)|small molecule metabolic process (GO:0044281)	mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	cofactor binding (GO:0048037)|electron carrier activity (GO:0009055)|L-ascorbic acid binding (GO:0031418)|metal ion binding (GO:0046872)|phytanoyl-CoA dioxygenase activity (GO:0048244)			NS(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2)	25		Ovarian(717;0.0448)			Antihemophilic Factor(DB00025)|Vitamin C(DB00126)	CTTACCTTCCGGAATCCCTGG	0.423																																						ENST00000396920.3																			0				NS(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2)	25	GRCh37	CM971176	PHYH	M	rs104894178	c.(772-774)Cgg>Tgg		phytanoyl-CoA 2-hydroxylase	Antihemophilic Factor(DB00025)|Vitamin C(DB00126)	G	TRP/ARG,TRP/ARG	0,4406		0,0,2203	122	120	120	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	523,823	0.6	1	10	dbSNP_132	120	3,8597	3.0+/-9.4	0,3,4297	no	missense,missense	PHYH	NM_001037537.1,NM_006214.3	101,101	0,3,6500	AA,AG,GG		0.0349,0.0,0.0231	probably-damaging,probably-damaging	175/239,275/339	13325695	3,13003	2203	4300	6503	SO:0001583	missense	5264				fatty acid alpha-oxidation|nervous system development	peroxisomal matrix	electron carrier activity|L-ascorbic acid binding|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|phytanoyl-CoA dioxygenase activity|protein binding	g.chr10:13325695G>A		CCDS7097.1, CCDS41489.1	10p13	2010-04-27	2006-01-09		ENSG00000107537	ENSG00000107537	1.14.11.18		8940	protein-coding gene	gene with protein product	"Refsum disease", "phytanoyl-CoA dioxygenase"	602026	"phytanoyl-CoA hydroxylase (Refsum disease)", "phytanoyl-CoA hydroxylase"			9326939	Standard	XM_005252469		Approved	PAHX, RD, PHYH1	uc001imf.3	O14832	OTTHUMG00000017693	ENST00000263038.4:c.823C>T	10.37:g.13325695G>A	ENSP00000263038:p.Arg275Trp					PHYH_ENST00000396913.2_Missense_Mutation_p.R175W|PHYH_ENST00000263038.4_Missense_Mutation_p.R275W	p.R258W			O14832	PAHX_HUMAN			7	1176	-		Ovarian(717;0.0448)	275					A8MTS8|B1ALH5	Missense_Mutation	SNP	ENST00000263038.4	37	c.772C>T	CCDS7097.1	.	.	.	.	.	.	.	.	.	.	G	16.67	3.187110	0.57909	0.0	3.49E-4	ENSG00000107537	ENST00000396913;ENST00000263038;ENST00000396920;ENST00000453759	D;D;D;D	0.99042	-5.36;-5.36;-5.36;-5.36	5.86	0.573	0.17363	.	0.000000	0.85682	D	0.000000	D	0.99245	0.9737	H	0.94808	3.585	0.80722	A	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.99391	1.0925	9	0.87932	D	0	-15.0804	6.327	0.21248	0.0608:0.1057:0.4182:0.4153	rs28939671	258;275	B1ALH6;O14832	.;PAHX_HUMAN	W	175;275;258;175	ENSP00000380121:R175W;ENSP00000263038:R275W;ENSP00000380126:R258W;ENSP00000412525:R175W	ENSP00000263038:R275W	R	-	1	2	PHYH	13365701	1.000000	0.71417	0.965000	0.40720	0.300000	0.27592	2.191000	0.42640	-0.145000	0.11294	0.591000	0.81541	CGG		0.423	PHYH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046845.2			16	96	0	0	0	1	0	16	96					A	13325695	G	A	13325695	3	1	391	1	0	0	0	0	1	0	0	0	11864	1115	39	2	205	2	PHYH	10	13325695	Missense_Mutation	SNP	G	TCGA-V1-A9OY-01A-11D-A41K-08		13325695	122209052	14	19177											
C10orf119	79892	broad.mit.edu	37	chr10	121591577	121591577	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcagtgatgctctgagggtcGttcttccgcatttccacaaa	8	12	10	11	2	2	2	0	2	2	0	5	2	4	2	2	1	1	4	2	1	1	3			TCGA-V1-A9OY-01A-11D-A41K-08	TCGA-V1-A9OY-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9454b4b6-985f-4e62-bbe9-1e61cf2e786b	7273e5ac-35e8-4188-bc14-ee745c353554	g.chr10:121591577G>A	ENST00000360003.3	-	15	1918	c.1749C>T	c.(1747-1749)aaC>aaT	p.N583N	MCMBP_ENST00000466047.1_5'UTR|MCMBP_ENST00000369077.3_Silent_p.N581N	NM_001256378.1|NM_001256379.1|NM_024834.3	NP_001243307.1|NP_001243308.1|NP_079110.1	Q9BTE3	MCMBP_HUMAN	minichromosome maintenance complex binding protein	583					DNA-dependent DNA replication (GO:0006261)|mitotic nuclear division (GO:0007067)|sister chromatid cohesion (GO:0007062)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	chromatin binding (GO:0003682)			breast(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(2)|skin(2)	21						TCTGAGGGTCGTTCTTCCGCA	0.423																																						ENST00000360003.3																			0				breast(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(2)|skin(2)	21						c.(1747-1749)aaC>aaT		minichromosome maintenance complex binding protein							152	122	132					10																	121591577		2203	4300	6503	SO:0001819	synonymous_variant	79892				cell division|DNA-dependent DNA replication|mitosis|S phase of mitotic cell cycle|sister chromatid cohesion	nucleus	chromatin binding	g.chr10:121591577G>A	BC007219	CCDS7617.1, CCDS58099.1	10q26.13	2013-10-11	2011-01-05	2011-01-05	ENSG00000197771	ENSG00000197771			25782	protein-coding gene	gene with protein product		610909	"chromosome 10 open reading frame 119"	C10orf119		17296731	Standard	NM_024834		Approved	FLJ13081, MCM-BP	uc001ler.3	Q9BTE3	OTTHUMG00000019159	ENST00000360003.3:c.1749C>T	10.37:g.121591577G>A						MCMBP_ENST00000466047.1_5'UTR|MCMBP_ENST00000369077.3_Silent_p.N581N	p.N583N	NM_001256378.1|NM_001256379.1|NM_024834.3	NP_001243307.1|NP_001243308.1|NP_079110.1	Q9BTE3	MCMBP_HUMAN			15	1918	-			583					B3KSP7|Q6IA56|Q9BVT9|Q9H916	Silent	SNP	ENST00000360003.3	37	c.1749C>T	CCDS7617.1																																																																																				0.423	MCMBP-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000050684.1	NM_024834		10	44	0	0	0	1	0	10	44					A	121591577	G	A	121591577	2	1	391	1	0	0	0	0	0	0	0	1	1588	1136	40	1		1	C10orf119	10	121591577	Silent	SNP	G	TCGA-V1-A9OY-01A-11D-A41K-08	108265882	121591577	13943170	15	19178											
ADAMTS8	11095	broad.mit.edu	37	chr11	130281313	130281313	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggccctgagtggtaattaccGtcaggggggcattcctccgt	6	10	14	11	2	1	1	1	1	0	0	3	1	3	1	4	5	1	2	4	5	2	3	rs201797398		TCGA-V1-A9OY-01A-11D-A41K-08	TCGA-V1-A9OY-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9454b4b6-985f-4e62-bbe9-1e61cf2e786b	7273e5ac-35e8-4188-bc14-ee745c353554	g.chr11:130281313G>A	ENST00000257359.6	-	6	2455	c.1749C>T	c.(1747-1749)gaC>gaT	p.D583D		NM_007037.4	NP_008968.4	Q9UP79	ATS8_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 8	583	Cys-rich.				negative regulation of cell proliferation (GO:0008285)|phosphate ion transmembrane transport (GO:0035435)	proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)|low-affinity phosphate transmembrane transporter activity (GO:0009673)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.D583D(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	10	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.039)|Lung(977;0.213)		GGTAATTACCGTCAGGGGGGC	0.582													G|||	1	0.000199681	0	0	5008	,	,		17916	0.001		0	False		,,,				2504	0					ENST00000257359.6																			1	Substitution - coding silent(1)	p.D583D(1)	prostate(1)	central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	10						c.e6+1		ADAM metallopeptidase with thrombospondin type 1 motif, 8		G		0,3950		0,0,1975	56	61	59		1749	-3.8	0	11		59	4,8242		0,4,4119	no	coding-synonymous-near-splice	ADAMTS8	NM_007037.4		0,4,6094	AA,AG,GG		0.0485,0.0,0.0328		583/890	130281313	4,12192	1975	4123	6098	SO:0001630	splice_region_variant	11095				negative regulation of cell proliferation|proteolysis	proteinaceous extracellular matrix	heparin binding|integrin binding|low affinity phosphate transmembrane transporter activity|metalloendopeptidase activity|zinc ion binding	g.chr11:130281313G>A	AF060153	CCDS41732.1	11q25	2008-07-18	2005-08-19		ENSG00000134917	ENSG00000134917		"ADAM metallopeptidases with thrombospondin type 1 motif"	224	protein-coding gene	gene with protein product		605175	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 8"			10438512	Standard	NM_007037		Approved	METH2, FLJ41712, ADAM-TS8	uc001qgg.4	Q9UP79	OTTHUMG00000165656	ENST00000257359.6:c.1750+1C>T	11.37:g.130281313G>A							p.D583_splice	NM_007037.4	NP_008968.4	Q9UP79	ATS8_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.039)|Lung(977;0.213)	6	2455	-	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)	583			Cys-rich.		Q9NZS0	Splice_Site	SNP	ENST00000257359.6	37	c.1750_splice	CCDS41732.1																																																																																				0.582	ADAMTS8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385636.1	NM_007037	Silent	3	23	0	0	0	1	0	3	23					A	130281313	G	A	130281313	5	1	391	1	0	0	0	0	0	0	1	0	272	1159	40	1	936	1	ADAMTS8	11	130281313	Splice_Site	SNP	G	TCGA-V1-A9OY-01A-11D-A41K-08		130281313	4725203	16	19179											
GPHN	10243	broad.mit.edu	37	chr14	67555762	67555762	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acaatttaccccccttcccaGcatcagtaaaagatggctat	13	10	5	13	0	1	1	1	0	0	1	2	1	2	1	4	1	2	3	4	1	5	5			TCGA-V1-A9OY-01A-11D-A41K-08	TCGA-V1-A9OY-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9454b4b6-985f-4e62-bbe9-1e61cf2e786b	7273e5ac-35e8-4188-bc14-ee745c353554	g.chr14:67555762G>A	ENST00000315266.5	+	11	2229	c.1108G>A	c.(1108-1110)Gca>Aca	p.A370T	GPHN_ENST00000543237.1_Missense_Mutation_p.A416T|GPHN_ENST00000478722.1_Missense_Mutation_p.A403T|GPHN_ENST00000544752.2_3'UTR|GPHN_ENST00000305960.9_Missense_Mutation_p.A339T	NM_001024218.1	NP_001019389.1	Q9NQX3	GEPH_HUMAN	gephyrin	370	MPT adenylyltransferase.				establishment of synaptic specificity at neuromuscular junction (GO:0007529)|glycine receptor clustering (GO:0072579)|Mo-molybdopterin cofactor biosynthetic process (GO:0006777)|molybdopterin cofactor biosynthetic process (GO:0032324)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|inhibitory synapse (GO:0060077)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|molybdopterin adenylyltransferase activity (GO:0061598)|molybdopterin molybdotransferase activity (GO:0061599)|transferase activity (GO:0016740)			large_intestine(8)|liver(1)|ovary(2)|stomach(1)	12		all_cancers(7;0.0476)|all_hematologic(31;0.0116)		Epithelial(1;1.73e-08)|all cancers(60;3.15e-07)|OV - Ovarian serous cystadenocarcinoma(108;0.000275)|BRCA - Breast invasive adenocarcinoma(234;0.00323)|Colorectal(3;0.0938)|KIRC - Kidney renal clear cell carcinoma(182;0.184)		CCCCTTCCCAGCATCAGTAAA	0.348			T	MLL	AL																																	ENST00000478722.1				Dom	yes		14	14q24	10243	T	gephyrin (GPH)			L	MLL		AL		0				large_intestine(8)|liver(1)|ovary(2)|stomach(1)	12						c.(1207-1209)Gca>Aca		gephyrin							88	83	84					14																	67555762		2203	4300	6503	SO:0001583	missense	10243				Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cell junction|cytoplasm|cytoskeleton|postsynaptic membrane	ATP binding|metal ion binding|nucleotidyltransferase activity	g.chr14:67555762G>A	AB037806	CCDS9777.1, CCDS32103.1	14q23.3	2008-04-22			ENSG00000171723	ENSG00000171723			15465	protein-coding gene	gene with protein product		603930				1319186, 10325225, 18403029	Standard	XM_005267250		Approved	KIAA1385	uc001xix.3	Q9NQX3	OTTHUMG00000029785	ENST00000315266.5:c.1108G>A	14.37:g.67555762G>A	ENSP00000312771:p.Ala370Thr					GPHN_ENST00000543237.1_Missense_Mutation_p.A416T|GPHN_ENST00000315266.5_Missense_Mutation_p.A370T|GPHN_ENST00000544752.2_3'UTR|GPHN_ENST00000305960.9_Missense_Mutation_p.A339T	p.A403T	NM_020806.4	NP_065857.1	Q9NQX3	GEPH_HUMAN		Epithelial(1;1.73e-08)|all cancers(60;3.15e-07)|OV - Ovarian serous cystadenocarcinoma(108;0.000275)|BRCA - Breast invasive adenocarcinoma(234;0.00323)|Colorectal(3;0.0938)|KIRC - Kidney renal clear cell carcinoma(182;0.184)	12	2328	+		all_cancers(7;0.0476)|all_hematologic(31;0.0116)	370			MPT adenylyltransferase.		Q9H4E9|Q9P2G2	Missense_Mutation	SNP	ENST00000315266.5	37	c.1207G>A	CCDS32103.1	.	.	.	.	.	.	.	.	.	.	G	25.0	4.592390	0.86953	.	.	ENSG00000171723	ENST00000315266;ENST00000478722;ENST00000543237;ENST00000305960	.	.	.	5.77	4.88	0.63580	MoeA, N-terminal and linker domain (2);	0.047628	0.85682	D	0.000000	T	0.75302	0.3831	M	0.62016	1.91	0.80722	D	1	P;D;P;D	0.76494	0.826;0.999;0.914;0.996	P;D;P;D	0.71414	0.555;0.973;0.763;0.929	T	0.76138	-0.3069	9	0.46703	T	0.11	-6.3225	14.5922	0.68373	0.0709:0.0:0.9291:0.0	.	339;416;370;403	F8W7D6;F5H039;Q9NQX3;Q9NQX3-2	.;.;GEPH_HUMAN;.	T	370;403;416;339	.	ENSP00000303019:A339T	A	+	1	0	GPHN	66625515	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.054000	0.93866	1.442000	0.47568	0.655000	0.94253	GCA		0.348	GPHN-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000074299.2	NM_020806		16	41	0	0	0	1	0	16	41					A	67555762	G	A	67555762	3	1	391	1	0	0	0	0	1	0	0	0	6610	971	34	3	1253	3	GPHN	14	67555762	Missense_Mutation	SNP	G	TCGA-V1-A9OY-01A-11D-A41K-08		67555762	39793778	17	19180											
DCAF5	8816	broad.mit.edu	37	chr14	69521532	69521532	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggttggggaggaggagaggTcatccactttgatctggggg	8	9	19	5	0	2	2	1	1	1	1	3	5	3	4	1	8	0	1	1	8	0	2			TCGA-V1-A9OY-01A-11D-A41K-08	TCGA-V1-A9OY-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9454b4b6-985f-4e62-bbe9-1e61cf2e786b	7273e5ac-35e8-4188-bc14-ee745c353554	g.chr14:69521532T>C	ENST00000341516.5	-	9	2018	c.1871A>G	c.(1870-1872)gAc>gGc	p.D624G	DCAF5_ENST00000556847.1_Missense_Mutation_p.D542G|DCAF5_ENST00000554215.1_Missense_Mutation_p.D542G|DCAF5_ENST00000553293.1_5'Flank|DCAF5_ENST00000557386.1_Missense_Mutation_p.D623G	NM_001284206.1|NM_001284207.1|NM_003861.2	NP_001271135.1|NP_001271136.1|NP_003852.1	Q96JK2	DCAF5_HUMAN	DDB1 and CUL4 associated factor 5	624					protein ubiquitination (GO:0016567)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|mitochondrion (GO:0005739)				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|upper_aerodigestive_tract(2)	29						GGAGGAGAGGTCATCCACTTT	0.522																																						ENST00000341516.5																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|upper_aerodigestive_tract(2)	29						c.(1870-1872)gAc>gGc		DDB1 and CUL4 associated factor 5							140	133	136					14																	69521532		2203	4300	6503	SO:0001583	missense	8816					CUL4 RING ubiquitin ligase complex		g.chr14:69521532T>C	AB058727	CCDS32106.1, CCDS61480.1, CCDS61481.1, CCDS73646.1	14q23-q24.1	2013-01-09	2009-07-17	2009-07-17				"WD repeat domain containing", "DDB1 and CUL4 associated factors"	20224	protein-coding gene	gene with protein product		603812	"WD repeat domain 22"	WDR22		9740667, 9521877	Standard	NM_003861		Approved	BCRP2, D14S1461E, BCRG2, KIAA1824	uc001xkp.3	Q96JK2		ENST00000341516.5:c.1871A>G	14.37:g.69521532T>C	ENSP00000341351:p.Asp624Gly					DCAF5_ENST00000556847.1_Missense_Mutation_p.D542G|DCAF5_ENST00000557386.1_Missense_Mutation_p.D623G|DCAF5_ENST00000554215.1_Missense_Mutation_p.D542G	p.D624G	NM_003861.2	NP_003852.1	Q96JK2	DCAF5_HUMAN			9	2018	-			624					B2RN31|G3V4J7|O60559|Q8N3V3|Q8N3V5	Missense_Mutation	SNP	ENST00000341516.5	37	c.1871A>G	CCDS32106.1	.	.	.	.	.	.	.	.	.	.	T	19.77	3.888555	0.72524	.	.	ENSG00000139990	ENST00000341516;ENST00000554215;ENST00000556847;ENST00000557386	T;T;T;T	0.76316	-1.01;-0.87;-0.87;-0.45	5.32	5.32	0.75619	.	0.000000	0.85682	D	0.000000	T	0.81098	0.4752	L	0.34521	1.04	0.80722	D	1	D;D	0.65815	0.995;0.991	P;P	0.62089	0.898;0.793	T	0.83299	-0.0029	10	0.66056	D	0.02	-21.0249	15.2825	0.73797	0.0:0.0:0.0:1.0	.	623;624	G3V4J7;Q96JK2	.;DCAF5_HUMAN	G	624;542;542;623	ENSP00000341351:D624G;ENSP00000451551:D542G;ENSP00000452052:D542G;ENSP00000451845:D623G	ENSP00000341351:D624G	D	-	2	0	DCAF5	68591285	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	6.937000	0.75898	2.005000	0.58758	0.459000	0.35465	GAC		0.522	DCAF5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000414806.2	NM_003861		11	88	0	0	0	1	0	11	88					C	69521532	T	C	69521532	3	2	391	1	0	0	0	0	1	0	0	0	4273	1667	58	4	961	4	DCAF5	14	69521532	Missense_Mutation	SNP	T	TCGA-V1-A9OY-01A-11D-A41K-08	1965770	69521532	37828008	18	19181											
NOS2	4843	broad.mit.edu	37	chr17	26106045	26106045	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttggccactgcaggcagggCgtaccactttagctccagtt	7	10	12	12	1	0	0	0	0	0	0	1	0	1	0	3	3	3	6	3	3	2	5	rs200623027		TCGA-V1-A9OY-01A-11D-A41K-08	TCGA-V1-A9OY-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9454b4b6-985f-4e62-bbe9-1e61cf2e786b	7273e5ac-35e8-4188-bc14-ee745c353554	g.chr17:26106045C>T	ENST00000313735.6	-	10	1275	c.1042G>A	c.(1042-1044)Gcc>Acc	p.A348T		NM_000625.4	NP_000616.3	P35228	NOS2_HUMAN	nitric oxide synthase 2, inducible	348					arginine catabolic process (GO:0006527)|blood coagulation (GO:0007596)|cellular response to interferon-gamma (GO:0071346)|cellular response to lipopolysaccharide (GO:0071222)|circadian rhythm (GO:0007623)|defense response to bacterium (GO:0042742)|defense response to Gram-negative bacterium (GO:0050829)|inflammatory response (GO:0006954)|innate immune response in mucosa (GO:0002227)|interaction with host (GO:0051701)|negative regulation of blood pressure (GO:0045776)|negative regulation of gene expression (GO:0010629)|negative regulation of protein catabolic process (GO:0042177)|nitric oxide biosynthetic process (GO:0006809)|nitric oxide mediated signal transduction (GO:0007263)|peptidyl-cysteine S-nitrosylation (GO:0018119)|phagosome maturation (GO:0090382)|positive regulation of guanylate cyclase activity (GO:0031284)|positive regulation of killing of cells of other organism (GO:0051712)|positive regulation of leukocyte mediated cytotoxicity (GO:0001912)|positive regulation of vasodilation (GO:0045909)|regulation of cell proliferation (GO:0042127)|regulation of cellular respiration (GO:0043457)|regulation of insulin secretion (GO:0050796)|response to bacterium (GO:0009617)|response to hypoxia (GO:0001666)|superoxide metabolic process (GO:0006801)	cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular (GO:0005622)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|peroxisome (GO:0005777)	arginine binding (GO:0034618)|flavin adenine dinucleotide binding (GO:0050660)|FMN binding (GO:0010181)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|NADP binding (GO:0050661)|NADPH-hemoprotein reductase activity (GO:0003958)|nitric-oxide synthase activity (GO:0004517)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|tetrahydrobiopterin binding (GO:0034617)			autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(28)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	56					Dexamethasone(DB01234)|Doxorubicin(DB00997)|L-Arginine(DB00125)|L-Citrulline(DB00155)|Miconazole(DB01110)|Triflusal(DB08814)	GCAGGCAGGGCGTACCACTTT	0.502																																						ENST00000313735.6																			0				autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(28)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	56						c.(1042-1044)Gcc>Acc		nitric oxide synthase 2, inducible	Dexamethasone(DB01234)|Hydrocortisone(DB00741)|L-Arginine(DB00125)|L-Citrulline(DB00155)						61	59	60					17																	26106045		2203	4300	6503	SO:0001583	missense	4843				arginine catabolic process|defense response to Gram-negative bacterium|innate immune response in mucosa|nitric oxide biosynthetic process|peptidyl-cysteine S-nitrosylation|platelet activation|positive regulation of killing of cells of other organism|positive regulation of leukocyte mediated cytotoxicity|regulation of cellular respiration|regulation of insulin secretion|superoxide metabolic process	cytosol|nucleus	arginine binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|protein homodimerization activity|tetrahydrobiopterin binding	g.chr17:26106045C>T	U20141	CCDS11223.1	17q11.2	2014-06-12	2008-09-16	2008-09-16	ENSG00000007171	ENSG00000007171	1.14.13.39		7873	protein-coding gene	gene with protein product		163730	"nitric oxide synthase 2A (inducible, hepatocytes)"	NOS2A		7682706	Standard	NM_000625		Approved	iNOS, NOS, HEP-NOS	uc002gzu.3	P35228	OTTHUMG00000132445	ENST00000313735.6:c.1042G>A	17.37:g.26106045C>T	ENSP00000327251:p.Ala348Thr						p.A348T	NM_000625.4	NP_000616.3	P35228	NOS2_HUMAN			10	1275	-			348					A1L3U5|B7ZLY2|O60757|O94994|Q16263|Q16692|Q4TTS5|Q9UD42	Missense_Mutation	SNP	ENST00000313735.6	37	c.1042G>A	CCDS11223.1	.	.	.	.	.	.	.	.	.	.	C	33	5.208239	0.95033	.	.	ENSG00000007171	ENST00000313735;ENST00000379105;ENST00000302153	T	0.35048	1.33	5.68	5.68	0.88126	Nitric oxide synthase, oxygenase domain (2);	0.126462	0.52532	D	0.000069	T	0.59972	0.2233	M	0.90425	3.115	0.54753	D	0.99998	D;D	0.71674	0.998;0.993	P;P	0.56612	0.681;0.802	T	0.68062	-0.5508	10	0.72032	D	0.01	.	12.1439	0.54012	0.0:0.9224:0.0:0.0776	.	348;348	F8WEM3;P35228	.;NOS2_HUMAN	T	348;309;348	ENSP00000327251:A348T	ENSP00000305638:A348T	A	-	1	0	NOS2	23130172	0.999000	0.42202	0.837000	0.33122	0.980000	0.70556	4.073000	0.57570	2.683000	0.91414	0.561000	0.74099	GCC		0.502	NOS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255597.1	NM_000625		19	47	0	0	0	1	0	19	47					T	26106045	C	T	26106045	3	4	391	1	0	0	0	0	1	0	0	0	10543	768	27	1	2491	1	NOS2	17	26106045	Missense_Mutation	SNP	C	TCGA-V1-A9OY-01A-11D-A41K-08		26106045	55089165	19	19182											
SPOP	8405	broad.mit.edu	37	chr17	47679302	47679302	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaggatgagaatttctgcaGcgttctccacggacaggtta	10	10	11	10	2	2	1	0	1	2	1	3	4	2	3	2	3	2	3	2	3	2	3			TCGA-V1-A9OY-01A-11D-A41K-08	TCGA-V1-A9OY-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9454b4b6-985f-4e62-bbe9-1e61cf2e786b	7273e5ac-35e8-4188-bc14-ee745c353554	g.chr17:47679302G>A	ENST00000393328.2	-	10	1270	c.905C>T	c.(904-906)gCt>gTt	p.A302V	SPOP_ENST00000503676.1_Missense_Mutation_p.A302V|SPOP_ENST00000393331.3_Missense_Mutation_p.A302V|SPOP_ENST00000347630.2_Missense_Mutation_p.A302V|SPOP_ENST00000504102.1_Missense_Mutation_p.A302V	NM_003563.3	NP_003554.1	O43791	SPOP_HUMAN	speckle-type POZ protein	302	Important for homodimerization.				glucose homeostasis (GO:0042593)|positive regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902237)|positive regulation of type B pancreatic cell apoptotic process (GO:2000676)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	Cul3-RING ubiquitin ligase complex (GO:0031463)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	ubiquitin protein ligase binding (GO:0031625)			endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						AATTTCTGCAGCGTTCTCCAC	0.488										Prostate(2;0.17)																												ENST00000393331.3																			0				endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						c.(904-906)gCt>gTt		speckle-type POZ protein							134	125	128					17																	47679302		2203	4300	6503	SO:0001583	missense	8405				mRNA processing	nucleus	protein binding	g.chr17:47679302G>A	AJ000644	CCDS11551.1	17q21.33	2013-01-09			ENSG00000121067	ENSG00000121067		"BTB/POZ domain containing"	11254	protein-coding gene	gene with protein product		602650				9414087	Standard	NM_001007227		Approved	TEF2, BTBD32	uc002ipg.3	O43791	OTTHUMG00000161496	ENST00000393328.2:c.905C>T	17.37:g.47679302G>A	ENSP00000377001:p.Ala302Val	Prostate(2;0.17)				SPOP_ENST00000393328.2_Missense_Mutation_p.A302V|SPOP_ENST00000347630.2_Missense_Mutation_p.A302V|SPOP_ENST00000504102.1_Missense_Mutation_p.A302V|SPOP_ENST00000503676.1_Missense_Mutation_p.A302V	p.A302V	NM_001007226.1|NM_001007227.1	NP_001007227.1|NP_001007228.1	O43791	SPOP_HUMAN			11	1375	-			302			Homodimerization.		B2R6S3|D3DTW7|Q53HJ1	Missense_Mutation	SNP	ENST00000393328.2	37	c.905C>T	CCDS11551.1	.	.	.	.	.	.	.	.	.	.	G	15.98	2.993408	0.54041	.	.	ENSG00000121067	ENST00000393328;ENST00000393331;ENST00000347630;ENST00000504102;ENST00000503536;ENST00000503676;ENST00000513872	T;T;T;T;T	0.61980	0.06;0.06;0.06;0.06;0.06	5.4	5.4	0.78164	.	0.000000	0.85682	D	0.000000	T	0.37865	0.1019	N	0.05230	-0.09	0.80722	D	1	B	0.27068	0.167	B	0.15052	0.012	T	0.42548	-0.9445	10	0.02654	T	1	-13.7413	18.9609	0.92677	0.0:0.0:1.0:0.0	.	302	O43791	SPOP_HUMAN	V	302;302;302;302;186;302;255	ENSP00000377001:A302V;ENSP00000377004:A302V;ENSP00000240327:A302V;ENSP00000425905:A302V;ENSP00000420908:A302V	ENSP00000240327:A302V	A	-	2	0	SPOP	45034301	1.000000	0.71417	0.412000	0.26496	0.987000	0.75469	5.217000	0.65252	2.818000	0.97014	0.591000	0.81541	GCT		0.488	SPOP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365154.2	NM_003563		4	92	0	0	0	1	0	4	92					A	47679302	G	A	47679302	3	1	391	1	0	0	0	0	1	0	0	0	15083	971	34	3	227	3	SPOP	17	47679302	Missense_Mutation	SNP	G	TCGA-V1-A9OY-01A-11D-A41K-08	21573257	47679302	33515908	20	19183											
CACNG5	27091	broad.mit.edu	37	chr17	64880940	64880940	+	Intron	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cagaatgtgtcactgtcttaCctttctgggtctcctccggc	5	14	9	13	1	4	1	1	0	3	1	6	1	5	1	3	2	1	0	3	2	2	2			TCGA-V1-A9OY-01A-11D-A41K-08	TCGA-V1-A9OY-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9454b4b6-985f-4e62-bbe9-1e61cf2e786b	7273e5ac-35e8-4188-bc14-ee745c353554	g.chr17:64880940C>A	ENST00000533854.1	+	6	807				CACNG5_ENST00000169565.3_Nonsense_Mutation_p.Y244*|CACNG5_ENST00000307139.3_Intron			Q9UF02	CCG5_HUMAN	calcium channel, voltage-dependent, gamma subunit 5						regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|transport (GO:0006810)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	ion transmembrane transporter activity (GO:0015075)|voltage-gated calcium channel activity (GO:0005245)			NS(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2)	24			BRCA - Breast invasive adenocarcinoma(6;1.61e-08)			CACTGTCTTACCTTTCTGGGT	0.602																																						ENST00000169565.3																			0				NS(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2)	24						c.(730-732)taC>taA		calcium channel, voltage-dependent, gamma subunit 5							97	79	85					17																	64880940		2203	4300	6503	SO:0001627	intron_variant	27091				regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|postsynaptic density|postsynaptic membrane	voltage-gated calcium channel activity	g.chr17:64880940C>A	AF148220	CCDS11665.1	17q24	2004-02-16				ENSG00000075429		"Calcium channel subunits"	1409	protein-coding gene	gene with protein product		606405				10613843	Standard	NM_145811		Approved		uc010wqj.2	Q9UF02		ENST00000533854.1:c.571-160C>A	17.37:g.64880940C>A						CACNG5_ENST00000533854.1_Intron|CACNG5_ENST00000307139.3_Intron	p.Y244*			Q9UF02	CCG5_HUMAN	BRCA - Breast invasive adenocarcinoma(6;1.61e-08)		4	732	+			0	SAGVMSVYLFMKRYTAEDMYRPHPGFYRPRLSNCSDYSGQF LHPDAWVRGRSPSDISSEASLQMNSNYPALLKCPDYDQMSS SPC -> VKPVTLSMDRLGLGTAPLSRGEWGWGRRDIPQPF WTPDHPLYFPSSSQNVSLSYLSGSPPARMSPGPCSCPHVHF PPHSSCVLCRPQPREMRQAPAASPSSAVFSL (in Ref. 1; AAF03089).				A8K2A6|Q547R3|Q8WXS7|Q9UHM3	Nonsense_Mutation	SNP	ENST00000533854.1	37	c.732C>A	CCDS11665.1	.	.	.	.	.	.	.	.	.	.	C	11.60	1.685861	0.29962	.	.	ENSG00000075429	ENST00000169565	.	.	.	2.89	1.85	0.25348	.	1.382030	0.05535	N	0.564742	.	.	.	.	.	.	0.37943	D	0.932394	.	.	.	.	.	.	.	.	.	.	.	.	.	-1.047	7.5936	0.28035	0.0:0.7342:0.2658:0.0	.	.	.	.	X	244	.	.	Y	+	3	2	CACNG5	62311402	0.002000	0.14202	0.001000	0.08648	0.104000	0.19210	0.353000	0.20130	0.731000	0.32448	0.603000	0.83216	TAC		0.602	CACNG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389882.1	NM_014404, NM_145811		17	40	1	0	3.52763e-06	1	3.61582e-06	17	40					A	64880940	C	A	64880940	1	1	391	0	1	0	0	0	0	0	0	0	2560	518	18	5		5	CACNG5	17	64880940	Intron	SNP	C	TCGA-V1-A9OY-01A-11D-A41K-08	17201638	64880940	16314270	21	19184											
SLC16A3	9123	broad.mit.edu	37	chr17	80195392	80195392	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttcgtcccgcccgtgttcgTggtgagctacgccaaggacc	5	9	12	15	5	0	1	0	1	0	0	3	2	1	2	4	2	2	2	4	2	2	3			TCGA-V1-A9OY-01A-11D-A41K-08	TCGA-V1-A9OY-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9454b4b6-985f-4e62-bbe9-1e61cf2e786b	7273e5ac-35e8-4188-bc14-ee745c353554	g.chr17:80195392T>C	ENST00000581287.1	+	3	3068	c.746T>C	c.(745-747)gTg>gCg	p.V249A	SLC16A3_ENST00000582743.1_Missense_Mutation_p.V249A|SLC16A3_ENST00000392341.1_Missense_Mutation_p.V249A|SLC16A3_ENST00000392339.1_Missense_Mutation_p.V249A	NM_001206951.1|NM_001206952.1	NP_001193880.1|NP_001193881.1	O15427	MOT4_HUMAN	solute carrier family 16 (monocarboxylate transporter), member 3	249					blood coagulation (GO:0007596)|cellular metabolic process (GO:0044237)|leukocyte migration (GO:0050900)|monocarboxylic acid transport (GO:0015718)|pyruvate metabolic process (GO:0006090)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	actin cytoskeleton (GO:0015629)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nuclear membrane (GO:0031965)|plasma membrane (GO:0005886)	monocarboxylic acid transmembrane transporter activity (GO:0008028)|poly(A) RNA binding (GO:0044822)|secondary active monocarboxylate transmembrane transporter activity (GO:0015355)|symporter activity (GO:0015293)			endometrium(2)|kidney(1)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	9	Breast(20;0.00285)|all_neural(118;0.0804)|Lung NSC(278;0.128)|all_lung(278;0.145)|Ovarian(332;0.227)		OV - Ovarian serous cystadenocarcinoma(97;0.00463)|BRCA - Breast invasive adenocarcinoma(99;0.0149)		Gamma Hydroxybutyric Acid(DB01440)|Niacin(DB00627)|Pyruvic acid(DB00119)	CCCGTGTTCGTGGTGAGCTAC	0.682																																					Pancreas(52;652 1135 19190 37282 52456)	ENST00000581287.1																			0				endometrium(2)|kidney(1)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	9						c.(745-747)gTg>gCg		solute carrier family 16 (monocarboxylate transporter), member 3	Pyruvic acid(DB00119)						31	35	33					17																	80195392		2202	4298	6500	SO:0001583	missense	9123				blood coagulation|leukocyte migration|organic anion transport|pyruvate metabolic process	actin cytoskeleton|integral to plasma membrane|membrane fraction|nuclear membrane	secondary active monocarboxylate transmembrane transporter activity|symporter activity	g.chr17:80195392T>C	U81800	CCDS11804.1	17q25.3	2013-07-18	2013-07-18		ENSG00000141526	ENSG00000141526		"Solute carriers"	10924	protein-coding gene	gene with protein product		603877	"solute carrier family 16 (monocarboxylic acid transporters), member 3", "solute carrier family 16, member 3 (monocarboxylic acid transporter 4)"			9425115	Standard	NM_004207		Approved	MCT3, MCT4	uc021ufm.1	O15427	OTTHUMG00000178832	ENST00000581287.1:c.746T>C	17.37:g.80195392T>C	ENSP00000463978:p.Val249Ala					SLC16A3_ENST00000392339.1_Missense_Mutation_p.V249A|SLC16A3_ENST00000392341.1_Missense_Mutation_p.V249A|SLC16A3_ENST00000582743.1_Missense_Mutation_p.V249A	p.V249A	NM_001206951.1|NM_001206952.1	NP_001193880.1|NP_001193881.1	O15427	MOT4_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.00463)|BRCA - Breast invasive adenocarcinoma(99;0.0149)		3	3068	+	Breast(20;0.00285)|all_neural(118;0.0804)|Lung NSC(278;0.128)|all_lung(278;0.145)|Ovarian(332;0.227)		249					B3KXG8|Q2M1P8	Missense_Mutation	SNP	ENST00000581287.1	37	c.746T>C	CCDS11804.1	.	.	.	.	.	.	.	.	.	.	T	16.66	3.185724	0.57909	.	.	ENSG00000141526	ENST00000392341;ENST00000392339	T;T	0.58060	0.36;0.36	5.68	5.68	0.88126	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	T	0.63604	0.2525	M	0.76002	2.32	0.58432	D	0.999999	P;P	0.46578	0.866;0.88	P;P	0.49252	0.489;0.604	T	0.69105	-0.5233	10	0.87932	D	0	.	15.1101	0.72349	0.0:0.0:0.0:1.0	.	249;249	Q53G91;O15427	.;MOT4_HUMAN	A	249	ENSP00000376152:V249A;ENSP00000376150:V249A	ENSP00000376150:V249A	V	+	2	0	SLC16A3	77788681	1.000000	0.71417	0.997000	0.53966	0.914000	0.54420	7.956000	0.87863	2.173000	0.68751	0.528000	0.53228	GTG		0.682	SLC16A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443498.1	NM_004207		7	34	0	0	0	1	0	7	34					C	80195392	T	C	80195392	3	2	391	1	0	0	0	0	1	0	0	0	14409	1696	59	4	756	4	SLC16A3	17	80195392	Missense_Mutation	SNP	T	TCGA-V1-A9OY-01A-11D-A41K-08	15314452	80195392	999818	22	19185											
PODNL1	79883	broad.mit.edu	37	chr19	14043545	14043545	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctaactagaatgtttgggacGtggcagggcaggcaggggga	10	7	18	6	1	0	1	0	0	0	1	0	3	0	3	0	6	1	4	0	6	3	3	rs373284026		TCGA-V1-A9OY-01A-11D-A41K-08	TCGA-V1-A9OY-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9454b4b6-985f-4e62-bbe9-1e61cf2e786b	7273e5ac-35e8-4188-bc14-ee745c353554	g.chr19:14043545G>A	ENST00000339560.5	-	8	1785	c.1512C>T	c.(1510-1512)caC>caT	p.H504H	PODNL1_ENST00000538517.2_Silent_p.H413H|PODNL1_ENST00000538371.2_Silent_p.H502H|PODNL1_ENST00000254320.3_Silent_p.H422H	NM_024825.3	NP_079101.3	Q6PEZ8	PONL1_HUMAN	podocan-like 1	504						proteinaceous extracellular matrix (GO:0005578)				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|skin(1)	8			OV - Ovarian serous cystadenocarcinoma(19;5.26e-23)			TGTTTGGGACGTGGCAGGGCA	0.577																																						ENST00000538517.2																			0				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|skin(1)	8						c.(1237-1239)caC>caT		podocan-like 1			,,	0,4298		0,0,2149	54	60	58		1506,1239,1512	-1.8	0	19		58	1,8363		0,1,4181	no	coding-synonymous,coding-synonymous,coding-synonymous	PODNL1	NM_001146254.1,NM_001146255.1,NM_024825.3	,,	0,1,6330	AA,AG,GG		0.012,0.0,0.0079	,,	502/511,413/422,504/513	14043545	1,12661	2149	4182	6331	SO:0001819	synonymous_variant	79883					proteinaceous extracellular matrix		g.chr19:14043545G>A	AK027100	CCDS12300.1, CCDS54225.1, CCDS54226.1	19p13.12	2008-02-05							26275	protein-coding gene	gene with protein product						12477932	Standard	NM_024825		Approved	FLJ23447, SLRR5B	uc010xnj.2	Q6PEZ8		ENST00000339560.5:c.1512C>T	19.37:g.14043545G>A						PODNL1_ENST00000254320.3_Silent_p.H422H|PODNL1_ENST00000538371.2_Silent_p.H502H|PODNL1_ENST00000339560.5_Silent_p.H504H	p.H413H	NM_001146255.1	NP_001139727.1	Q6PEZ8	PONL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;5.26e-23)		6	1483	-			504			Leu-rich.		B7Z564|Q9H5G9	Silent	SNP	ENST00000339560.5	37	c.1239C>T	CCDS12300.1																																																																																				0.577	PODNL1-003	KNOWN	overlapping_uORF|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000457967.1	NM_024825		4	72	0	0	0	1	0	4	72					A	14043545	G	A	14043545	2	1	391	1	0	0	0	0	0	0	0	1	12179	1136	40	1		1	PODNL1	19	14043545	Silent	SNP	G	TCGA-V1-A9OY-01A-11D-A41K-08		14043545	45085438	23	19186											
EMR2	30817	broad.mit.edu	37	chr19	14866467	14866467	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caactccaccagcactcacaCggtgggagaaggtgaaggta	13	5	12	11	1	1	2	1	1	0	1	2	3	2	2	2	4	2	2	2	4	4	1	rs142367407		TCGA-V1-A9OY-01A-11D-A41K-08	TCGA-V1-A9OY-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9454b4b6-985f-4e62-bbe9-1e61cf2e786b	7273e5ac-35e8-4188-bc14-ee745c353554	g.chr19:14866467C>T	ENST00000315576.3	-	13	1866	c.1415G>A	c.(1414-1416)cGt>cAt	p.R472H	EMR2_ENST00000594294.1_Splice_Site_p.R423H|EMR2_ENST00000353005.1_Splice_Site_p.R330H|EMR2_ENST00000346057.1_Splice_Site_p.R423H|EMR2_ENST00000595839.1_Splice_Site_p.R330H|EMR2_ENST00000601345.1_Splice_Site_p.R461H|EMR2_ENST00000596991.2_Splice_Site_p.R461H|EMR2_ENST00000353876.1_Splice_Site_p.R379H|EMR2_ENST00000392965.3_Splice_Site_p.R472H|EMR2_ENST00000392967.2_Splice_Site_p.R461H|EMR2_ENST00000392964.3_Intron|EMR2_ENST00000594076.1_Splice_Site_p.R379H	NM_013447.3	NP_038475.2	Q9UHX3	EMR2_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 2	472					cell adhesion (GO:0007155)|cell migration (GO:0016477)|G-protein coupled receptor signaling pathway (GO:0007186)|granulocyte chemotaxis (GO:0071621)|inflammatory response (GO:0006954)|neuropeptide signaling pathway (GO:0007218)	cell projection (GO:0042995)|integral component of membrane (GO:0016021)|leading edge membrane (GO:0031256)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|chondroitin sulfate binding (GO:0035374)|G-protein coupled receptor activity (GO:0004930)			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	48						AGCACTCACACGGTGGGAGAA	0.577																																						ENST00000315576.3																			0				breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	48						c.e13+1		egf-like module containing, mucin-like, hormone receptor-like 2		C	HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	162	145	151		1415,1268,1136,989,1382,1235,1103	-7.9	0	19	dbSNP_134	151	0,8600		0,0,4300	yes	missense-near-splice,missense-near-splice,missense-near-splice,missense-near-splice,missense-near-splice,missense-near-splice,missense-near-splice	EMR2	NM_013447.2,NM_152916.1,NM_152917.1,NM_152918.1,NM_152919.1,NM_152920.1,NM_152921.1	29,29,29,29,29,29,29	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign,benign,benign,benign,benign,benign,benign	472/824,423/775,379/731,330/682,461/813,412/764,368/720	14866467	1,13005	2203	4300	6503	SO:0001630	splice_region_variant	30817				cell adhesion|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr19:14866467C>T	AF114491	CCDS32935.1, CCDS59361.1	19p13.1	2014-08-08	2003-11-26			ENSG00000127507		"CD molecules", "-", "GPCR / Class B : Orphans"	3337	protein-coding gene	gene with protein product		606100	"egf-like module containing, mucin-like, hormone receptor-like sequence 2"				Standard	NM_013447		Approved	CD312	uc002mzp.2	Q9UHX3		ENST00000315576.3:c.1416+1G>A	19.37:g.14866467C>T						EMR2_ENST00000392967.2_Splice_Site_p.R461_splice|EMR2_ENST00000392964.3_Intron|EMR2_ENST00000353876.1_Splice_Site_p.R379_splice|EMR2_ENST00000595839.1_Splice_Site_p.R330_splice|EMR2_ENST00000596991.2_Splice_Site_p.R461_splice|EMR2_ENST00000594294.1_Splice_Site_p.R423_splice|EMR2_ENST00000594076.1_Splice_Site_p.R379_splice|EMR2_ENST00000353005.1_Splice_Site_p.R330_splice|EMR2_ENST00000346057.1_Splice_Site_p.R423_splice|EMR2_ENST00000392965.3_Splice_Site_p.R472_splice|EMR2_ENST00000601345.1_Splice_Site_p.R461_splice	p.R472_splice	NM_013447.2	NP_038475.2	Q9UHX3	EMR2_HUMAN			13	1866	-			472					B4DQ96|E7ESD7|E9PBR1|E9PEL6|E9PFQ5|E9PG91|Q8NG96|Q9Y4B1	Splice_Site	SNP	ENST00000315576.3	37	c.1416_splice	CCDS32935.1	.	.	.	.	.	.	.	.	.	.	C	7.738	0.700673	0.15106	2.27E-4	0.0	ENSG00000127507	ENST00000315576;ENST00000392967;ENST00000346057;ENST00000353876;ENST00000353005;ENST00000392965	T;T;T;T;T;T	0.77229	-0.95;-1.08;-0.48;0.31;1.04;1.18	3.94	-7.88	0.01178	.	.	.	.	.	T	0.51007	0.1649	N	0.14661	0.345	0.09310	N	1	P;B;D;B;B;B;B;B	0.57899	0.951;0.121;0.981;0.002;0.121;0.037;0.283;0.132	B;B;B;B;B;B;B;B	0.41036	0.197;0.024;0.346;0.008;0.024;0.011;0.018;0.094	T	0.54675	-0.8258	9	0.35671	T	0.21	.	3.5975	0.08012	0.1165:0.3757:0.3524:0.1554	.	472;379;472;330;423;472;472;461	E7ESD7;Q9UHX3-4;A0JNV7;Q9UHX3-5;Q9UHX3-3;A8K6W1;Q9UHX3;Q9UHX3-2	.;.;.;.;.;.;EMR2_HUMAN;.	H	472;461;423;379;330;472	ENSP00000319883:R472H;ENSP00000376694:R461H;ENSP00000263380:R423H;ENSP00000319454:R379H;ENSP00000319838:R330H;ENSP00000376692:R472H	ENSP00000319883:R472H	R	-	2	0	EMR2	14727467	0.000000	0.05858	0.001000	0.08648	0.008000	0.06430	-4.163000	0.00282	-2.001000	0.00964	-1.420000	0.01111	CGT		0.577	EMR2-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000466502.2		Missense_Mutation	12	67	0	0	0	1	0	12	67					T	14866467	C	T	14866467	5	4	391	1	0	0	0	0	0	0	1	0	5105	550	19	1	1092	1	EMR2	19	14866467	Splice_Site	SNP	C	TCGA-V1-A9OY-01A-11D-A41K-08	822922	14866467	44262516	24	19187											
CACNG2	10369	broad.mit.edu	37	chr22	36960572	36960572	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agcgtgtacatggagatctcCgtggacggcagggtgttgaa	9	9	16	7	3	1	2	0	1	1	1	2	4	1	3	1	4	2	3	1	4	2	2			TCGA-V1-A9OY-01A-11D-A41K-08	TCGA-V1-A9OY-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9454b4b6-985f-4e62-bbe9-1e61cf2e786b	7273e5ac-35e8-4188-bc14-ee745c353554	g.chr22:36960572C>T	ENST00000300105.6	-	4	1779	c.798G>A	c.(796-798)acG>acA	p.T266T	RP5-1119A7.17_ENST00000562756.1_RNA	NM_006078.3	NP_006069.1	Q9Y698	CCG2_HUMAN	calcium channel, voltage-dependent, gamma subunit 2	266					membrane depolarization (GO:0051899)|membrane hyperpolarization (GO:0060081)|neuromuscular junction development (GO:0007528)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|synaptic transmission (GO:0007268)|transmission of nerve impulse (GO:0019226)|transport (GO:0006810)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|endocytic vesicle membrane (GO:0030666)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	18						TGGAGATCTCCGTGGACGGCA	0.667																																						ENST00000300105.6																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	18						c.(796-798)acG>acA		calcium channel, voltage-dependent, gamma subunit 2							69	73	72					22																	36960572		2203	4300	6503	SO:0001819	synonymous_variant	10369				membrane depolarization|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity	g.chr22:36960572C>T	AF096322	CCDS13931.1	22q13.1	2006-08-01			ENSG00000166862	ENSG00000166862		"Calcium channel subunits"	1406	protein-coding gene	gene with protein product		602911					Standard	NM_006078		Approved	stargazin, MGC138502, MGC138504	uc003aps.2	Q9Y698	OTTHUMG00000030612	ENST00000300105.6:c.798G>A	22.37:g.36960572C>T							p.T266T	NM_006078.3	NP_006069.1	Q9Y698	CCG2_HUMAN			4	1779	-			266					Q2M1M1|Q5TGT3|Q9UGZ7	Silent	SNP	ENST00000300105.6	37	c.798G>A	CCDS13931.1																																																																																				0.667	CACNG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075500.2			5	72	0	0	0	1	0	5	72					T	36960572	C	T	36960572	2	4	391	1	0	0	0	0	0	0	0	1	2557	639	23	2		2	CACNG2	22	36960572	Silent	SNP	C	TCGA-V1-A9OY-01A-11D-A41K-08		36960572	14343994	25	19188											
PQBP1	10084	broad.mit.edu	37	chrX	48759668	48759669	+	Frame_Shift_Del	DEL	AG	AG	-																															gtggctatgacaaggtagacAgagagagagagcgagacagg																										TCGA-V1-A9OY-01A-11D-A41K-08	TCGA-V1-A9OY-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9454b4b6-985f-4e62-bbe9-1e61cf2e786b	7273e5ac-35e8-4188-bc14-ee745c353554	g.chrX:48759668_48759669delAG	ENST00000376563.1	+	5	651_652	c.451_452delAG	c.(451-453)agafs	p.R151fs	PQBP1_ENST00000473764.1_3'UTR|PQBP1_ENST00000396763.1_Frame_Shift_Del_p.R151fs|PQBP1_ENST00000447146.2_Frame_Shift_Del_p.R151fs|PQBP1_ENST00000218224.4_Frame_Shift_Del_p.R151fs|PQBP1_ENST00000376566.4_Intron|PQBP1_ENST00000247140.4_Intron	NM_001032381.1|NM_001032382.1|NM_001032383.1|NM_001167989.1	NP_001027553.1|NP_001027554.1|NP_001027555.1|NP_001161461.1	O60828	PQBP1_HUMAN	polyglutamine binding protein 1	151	7 X 2 AA tandem repeats of [DE]-R.|Arg-rich.|Intrinsically disordered.				alternative mRNA splicing, via spliceosome (GO:0000380)|neuron projection development (GO:0031175)|regulation of dendrite morphogenesis (GO:0048814)|regulation of RNA splicing (GO:0043484)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|neuronal ribonucleoprotein granule (GO:0071598)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ribonucleoprotein complex binding (GO:0043021)|transcription coactivator activity (GO:0003713)			breast(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(2)	11						CAAGGTAGACAGAGAGAGAGAG	0.619																																						ENST00000218224.4																			0				breast(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(2)	11						c.(451-453)afs		polyglutamine binding protein 1			,,,,,,,,	60,3659		4,23,29,1565,506					,,,,,,,,	-6.6	0			44	111,6368		9,35,58,2312,1709	no	intron,frameshift,intron,frameshift,frameshift,frameshift,frameshift,frameshift,frameshift	PQBP1	NM_144495.2,NM_005710.2,NM_001167992.1,NM_001167990.1,NM_001167989.1,NM_001032384.1,NM_001032383.1,NM_001032382.1,NM_001032381.1	,,,,,,,,	13,58,87,3877,2215	A1A1,A1R,A1,RR,R		1.7132,1.6133,1.6768	,,,,,,,,	,,,,,,,,		171,10027				SO:0001589	frameshift_variant	10084				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|transcription coactivator activity	g.chrX:48759668_48759669delAG	AJ005893	CCDS14309.1, CCDS55412.1	Xp11.23	2014-01-31			ENSG00000102103	ENSG00000102103			9330	protein-coding gene	gene with protein product		300463	"Sutherland-Haan X-linked mental retardation syndrome", "mental retardation, X-linked 55", "mental retardation, X-linked 2 (non-dysmorphic)"	RENS1, MRXS8, SHS, MRX55, MRX2		9875212, 15024694, 14634649	Standard	NM_144495		Approved		uc004dlg.3	O60828	OTTHUMG00000024128	ENST00000376563.1:c.451_452delAG	X.37:g.48759678_48759679delAG	ENSP00000365747:p.Arg151fs					PQBP1_ENST00000396763.1_Frame_Shift_Del_p.R151fs|PQBP1_ENST00000376563.1_Frame_Shift_Del_p.R151fs|PQBP1_ENST00000376566.4_Intron|PQBP1_ENST00000247140.4_Intron|PQBP1_ENST00000447146.2_Frame_Shift_Del_p.R151fs|PQBP1_ENST00000473764.1_3'UTR	p.R151fs	NM_005710.2	NP_005701.1	O60828	PQBP1_HUMAN			4	705_706	+			151			7 X 2 AA tandem repeats of [DE]-R.|Arg-rich.		Q4VY25|Q4VY26|Q4VY27|Q4VY29|Q4VY30|Q4VY34|Q4VY35|Q4VY36|Q4VY37|Q4VY38|Q9GZP2|Q9GZU4|Q9GZZ4	Frame_Shift_Del	DEL	ENST00000376563.1	37	c.451_452delAG	CCDS14309.1																																																																																				0.619	PQBP1-203	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060777.1	NM_001032381.1		2	4						2	4	---	---	---	---	-	48759669	AG	-	48759668	7	5	391	1	0	1	0	1	0	0	0	0	12417	180	7	0	465	0	PQBP1	23	48759668	Frame_Shift_Del	DEL	AG	TCGA-V1-A9OY-01A-11D-A41K-08		48759668	106510892	26	19189											
ATRX	546	broad.mit.edu	37	chrX	76938946	76938956	+	Frame_Shift_Del	DEL	TTAATTGGGGA	TTAATTGGGGA	-																															cttcctgacaatcagcacctTtaattggggaattagaaagg																								rs375129029		TCGA-V1-A9OY-01A-11D-A41K-08	TCGA-V1-A9OY-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9454b4b6-985f-4e62-bbe9-1e61cf2e786b	7273e5ac-35e8-4188-bc14-ee745c353554	g.chrX:76938946_76938956delTTAATTGGGGA	ENST00000373344.5	-	9	2006_2016	c.1792_1802delTCCCCAATTAA	c.(1792-1803)tccccaattaaafs	p.SPIK598fs	ATRX_ENST00000395603.3_Frame_Shift_Del_p.SPIK560fs|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	598					ATP catabolic process (GO:0006200)|cellular response to hydroxyurea (GO:0072711)|chromatin remodeling (GO:0006338)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA methylation (GO:0006306)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication-independent nucleosome assembly (GO:0006336)|forebrain development (GO:0030900)|negative regulation of telomeric RNA transcription from RNA pol II promoter (GO:1901581)|nucleosome assembly (GO:0006334)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|replication fork processing (GO:0031297)|seminiferous tubule development (GO:0072520)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear heterochromatin (GO:0005720)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF superfamily-type complex (GO:0070603)|telomeric heterochromatin (GO:0031933)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|helicase activity (GO:0004386)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						ATCAGCACCTTTAATTGGGGAATTAGAAAGG	0.355			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome																															ENST00000373344.5				Rec	yes		X	Xq21.1	546	"Mis, F, N"	alpha thalassemia/mental retardation syndrome X-linked	yes	ATR-X (alpha thalassemia/mental retardation) syndrome	E			"Pancreatic neuroendocrine tumors, paediatric GBM"		1	Unknown(1)	p.?(1)	bone(1)	bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						c.(1792-1803)afs		alpha thalassemia/mental retardation syndrome X-linked	Phosphatidylserine(DB00144)																																			SO:0001589	frameshift_variant	546				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	g.chrX:76938946_76938956delTTAATTGGGGA	U72937	CCDS14434.1, CCDS14435.1	Xq21.1	2014-06-17	2010-06-24		ENSG00000085224	ENSG00000085224			886	protein-coding gene	gene with protein product	"RAD54 homolog (S. cerevisiae)"	300032	"alpha thalassemia/mental retardation syndrome X-linked (RAD54 (S. cerevisiae) homolog)", "Juberg-Marsidi syndrome"	RAD54, JMS		7874112, 1415255, 8503439, 8630485	Standard	NM_000489		Approved	XH2, XNP	uc004ecp.4	P46100	OTTHUMG00000022686	ENST00000373344.5:c.1792_1802delTCCCCAATTAA	X.37:g.76938946_76938956delTTAATTGGGGA	ENSP00000362441:p.Ser598fs					ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Frame_Shift_Del_p.SPIK560fs	p.SPIK598fs	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN			9	2006_2016	-			598					D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Frame_Shift_Del	DEL	ENST00000373344.5	37	c.1792_1802delTCCCCAATTAA	CCDS14434.1																																																																																				0.355	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489		58	121						58	121	---	---	---	---	-	76938956	TTAATTGGGGA	-	76938946	7	5	391	1	0	1	0	1	0	0	0	0	1208	1841	64	0	5784	0	ATRX	23	76938946	Frame_Shift_Del	DEL	TTAATTGGGGA	TCGA-V1-A9OY-01A-11D-A41K-08	28179278	76938946	78331614	27	19190											
PRDM2	7799	broad.mit.edu	37	chr1	14108529	14108529	+	Silent	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttgagctcagcaaaatgtcGtcgaataagctcaaattaaa	16	10	8	7	2	2	1	2	1	0	0	4	2	2	1	0	0	3	4	0	0	7	3			TCGA-V1-A9Z7-01A-11D-A41K-08	TCGA-V1-A9Z7-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10f30605-2413-49d7-a9e7-042fb7c2c336	87158802-66e8-4c56-9f08-3cb5033e6cb4	g.chr1:14108529G>C	ENST00000235372.7	+	8	5095	c.4239G>C	c.(4237-4239)tcG>tcC	p.S1413S	PRDM2_ENST00000413440.1_Silent_p.S1212S|PRDM2_ENST00000343137.4_Silent_p.S1212S|PRDM2_ENST00000311066.5_Silent_p.S1413S|PRDM2_ENST00000503842.1_Intron|PRDM2_ENST00000376048.5_Intron|PRDM2_ENST00000505823.1_Intron	NM_012231.4	NP_036363.2	Q13029	PRDM2_HUMAN	PR domain containing 2, with ZNF domain	1413	Arg/Lys-rich (basic).				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.S1413S(1)		endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(16)|lung(20)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	55	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145)		GCAAAATGTCGTCGAATAAGC	0.393																																						ENST00000235372.7																			1	Substitution - coding silent(1)	p.S1413S(1)	lung(1)	endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(16)|lung(20)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	55						c.(4237-4239)tcG>tcC		PR domain containing 2, with ZNF domain							69	74	72					1																	14108529		2203	4300	6503	SO:0001819	synonymous_variant	7799					Golgi apparatus|nucleus	DNA binding|histone-lysine N-methyltransferase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr1:14108529G>C	U17838	CCDS150.1, CCDS151.1, CCDS30603.1, CCDS44061.1	1p36	2011-07-01			ENSG00000116731	ENSG00000116731		"Chromatin-modifying enzymes / K-methyltransferases"	9347	protein-coding gene	gene with protein product	"retinoblastoma protein-binding zinc finger protein", "retinoblastoma protein-interacting zinc finger protein", "MTE-binding protein", "zinc-finger DNA-binding protein", "GATA-3 binding protein G3B"	601196				7538672	Standard	NM_012231		Approved	RIZ, RIZ1, RIZ2, KMT8, MTB-ZF, HUMHOXY1	uc001avi.3	Q13029	OTTHUMG00000007917	ENST00000235372.7:c.4239G>C	1.37:g.14108529G>C						PRDM2_ENST00000413440.1_Silent_p.S1212S|PRDM2_ENST00000311066.5_Silent_p.S1413S|PRDM2_ENST00000503842.1_Intron|PRDM2_ENST00000343137.4_Silent_p.S1212S|PRDM2_ENST00000376048.5_Intron|PRDM2_ENST00000505823.1_Intron	p.S1413S	NM_012231.4	NP_036363.2	Q13029	PRDM2_HUMAN	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145)	8	5095	+	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	1413			Arg/Lys-rich (basic).		B1AJZ4|B5MC68|Q13149|Q14550|Q5THJ1|Q5VUL9	Silent	SNP	ENST00000235372.7	37	c.4239G>C	CCDS150.1																																																																																				0.393	PRDM2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000021792.2	NM_012231		30	55	0	0	0	1	0	30	55					C	14108529	G	C	14108529	2	2	392	1	0	0	0	0	0	0	0	1	12458	1132	40	5		5	PRDM2	1	14108529	Silent	SNP	G	TCGA-V1-A9Z7-01A-11D-A41K-08		14108529	235142092	1	19191											
FBXO42	54455	broad.mit.edu	37	chr1	16621337	16621337	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caagtctccagaggtcattgAaagcagcattgcagctgctc	11	9	10	11	0	2	2	1	1	1	1	4	2	2	2	1	1	5	5	1	1	2	2			TCGA-V1-A9Z7-01A-11D-A41K-08	TCGA-V1-A9Z7-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10f30605-2413-49d7-a9e7-042fb7c2c336	87158802-66e8-4c56-9f08-3cb5033e6cb4	g.chr1:16621337A>G	ENST00000375592.3	-	4	659	c.443T>C	c.(442-444)tTc>tCc	p.F148S	FBXO42_ENST00000478089.1_5'UTR	NM_018994.1	NP_061867.1	Q6P3S6	FBX42_HUMAN	F-box protein 42	148										autonomic_ganglia(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	26		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00475)|all_lung(284;0.00671)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0193)|Colorectal(212;3.16e-07)|COAD - Colon adenocarcinoma(227;1.46e-05)|BRCA - Breast invasive adenocarcinoma(304;4.37e-05)|Kidney(64;0.000246)|KIRC - Kidney renal clear cell carcinoma(64;0.00336)|STAD - Stomach adenocarcinoma(313;0.0139)|READ - Rectum adenocarcinoma(331;0.0693)		GAGGTCATTGAAAGCAGCATT	0.433																																						ENST00000375592.3																			0				autonomic_ganglia(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	26						c.(442-444)tTc>tCc		F-box protein 42							131	117	122					1																	16621337		2203	4300	6503	SO:0001583	missense	54455							g.chr1:16621337A>G	BC063864	CCDS30613.1	1p36.23-p36.11	2008-02-05			ENSG00000037637	ENSG00000037637		"F-boxes /  "other""	29249	protein-coding gene	gene with protein product		609109				10718198	Standard	XM_006710698		Approved	KIAA1332, Fbx42	uc001ayg.3	Q6P3S6	OTTHUMG00000002218	ENST00000375592.3:c.443T>C	1.37:g.16621337A>G	ENSP00000364742:p.Phe148Ser					FBXO42_ENST00000478089.1_5'UTR	p.F148S	NM_018994.1	NP_061867.1	Q6P3S6	FBX42_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0193)|Colorectal(212;3.16e-07)|COAD - Colon adenocarcinoma(227;1.46e-05)|BRCA - Breast invasive adenocarcinoma(304;4.37e-05)|Kidney(64;0.000246)|KIRC - Kidney renal clear cell carcinoma(64;0.00336)|STAD - Stomach adenocarcinoma(313;0.0139)|READ - Rectum adenocarcinoma(331;0.0693)	4	659	-		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00475)|all_lung(284;0.00671)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)	148					B3KP30|Q5TEU8|Q86XI0|Q8N3N4|Q8N5F8|Q9BRM0|Q9P2L4	Missense_Mutation	SNP	ENST00000375592.3	37	c.443T>C	CCDS30613.1	.	.	.	.	.	.	.	.	.	.	A	25.4	4.633656	0.87660	.	.	ENSG00000037637	ENST00000375592	T	0.38401	1.14	4.95	4.95	0.65309	Kelch-type beta propeller (1);	0.053638	0.85682	N	0.000000	T	0.58722	0.2142	M	0.71871	2.18	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.62011	-0.6944	10	0.56958	D	0.05	-18.5251	14.0975	0.65032	1.0:0.0:0.0:0.0	.	148	Q6P3S6	FBX42_HUMAN	S	148	ENSP00000364742:F148S	ENSP00000364742:F148S	F	-	2	0	FBXO42	16493924	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	8.987000	0.93497	2.013000	0.59113	0.260000	0.18958	TTC		0.433	FBXO42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006285.1			3	60	0	0	0	1	0	3	60					G	16621337	A	G	16621337	3	3	392	1	0	0	0	0	1	0	0	0	5751	246	9	4	1738	4	FBXO42	1	16621337	Missense_Mutation	SNP	A	TCGA-V1-A9Z7-01A-11D-A41K-08	2512808	16621337	232629284	2	19192											
EIF2C4	192670	broad.mit.edu	37	chr1	36307352	36307352	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gtgcagataaaacagaaaggGtaagaagatataatataagc	21	7	10	3	0	0	4	0	0	0	4	0	4	0	4	0	1	3	2	0	1	9	6			TCGA-V1-A9Z7-01A-11D-A41K-08	TCGA-V1-A9Z7-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10f30605-2413-49d7-a9e7-042fb7c2c336	87158802-66e8-4c56-9f08-3cb5033e6cb4	g.chr1:36307352G>A	ENST00000373210.3	+	15	2420		c.e15+1		AGO4_ENST00000488778.1_Splice_Site	NM_017629.3	NP_060099.2	Q9HCK5	AGO4_HUMAN	argonaute RISC catalytic component 4						epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|mRNA catabolic process (GO:0006402)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|membrane (GO:0016020)|micro-ribonucleoprotein complex (GO:0035068)|RISC complex (GO:0016442)	miRNA binding (GO:0035198)										AACAGAAAGGGTAAGAAGATA	0.313																																						ENST00000373210.3																			0											c.e15+1		argonaute RISC catalytic component 4							63	66	65					1																	36307352		2203	4300	6503	SO:0001630	splice_region_variant	192670							g.chr1:36307352G>A	AB046787	CCDS397.1	1p34	2013-02-15	2013-02-15	2013-02-15	ENSG00000134698	ENSG00000134698		"Argonaute/PIWI family"	18424	protein-coding gene	gene with protein product	"argonaute 4"	607356	"eukaryotic translation initiation factor 2C, 4"	EIF2C4		12906857	Standard	NM_017629		Approved	hAGO4, KIAA1567, FLJ20033	uc001bzj.2	Q9HCK5	OTTHUMG00000004243	ENST00000373210.3:c.2175+1G>A	1.37:g.36307352G>A						AGO4_ENST00000488778.1_Splice_Site		NM_017629.3	NP_060099.2					15	2420	+								A7MD27	Splice_Site	SNP	ENST00000373210.3	37		CCDS397.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.059666	0.76074	.	.	ENSG00000134698	ENST00000373210	.	.	.	5.45	5.45	0.79879	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.2728	0.94018	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	EIF2C4	36079939	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	9.737000	0.98831	2.554000	0.86153	0.563000	0.77884	.		0.313	AGO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012213.3	NM_017629	Intron	13	54	0	0	0	1	0	13	54					A	36307352	G	A	36307352	5	1	392	1	0	0	0	0	0	0	1	0	5008	1275	44	3	2234	3	EIF2C4	1	36307352	Splice_Site	SNP	G	TCGA-V1-A9Z7-01A-11D-A41K-08	19686015	36307352	212943269	3	19193											
FAM102B	284611	broad.mit.edu	37	chr1	109143213	109143213	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggtacaagcaaactgtgttCgctggagaaagaagttctca	13	10	11	7	1	1	2	1	0	1	2	3	3	1	2	0	2	3	5	0	2	5	3			TCGA-V1-A9Z7-01A-11D-A41K-08	TCGA-V1-A9Z7-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10f30605-2413-49d7-a9e7-042fb7c2c336	87158802-66e8-4c56-9f08-3cb5033e6cb4	g.chr1:109143213C>A	ENST00000370035.3	+	2	503	c.163C>A	c.(163-165)Cgc>Agc	p.R55S	FAM102B_ENST00000405454.1_Missense_Mutation_p.R55S	NM_001010883.2	NP_001010883.2	Q5T8I3	F102B_HUMAN	family with sequence similarity 102, member B	55										autonomic_ganglia(1)|kidney(1)|large_intestine(1)|lung(1)|skin(1)	5		all_epithelial(167;5.52e-05)|all_lung(203;0.00026)|Lung NSC(277;0.000508)		Colorectal(144;0.0217)|Lung(183;0.109)|COAD - Colon adenocarcinoma(174;0.141)|Epithelial(280;0.182)		AAACTGTGTTCGCTGGAGAAA	0.398																																						ENST00000370035.3																			0				autonomic_ganglia(1)|kidney(1)|large_intestine(1)|lung(1)|skin(1)	5						c.(163-165)Cgc>Agc		family with sequence similarity 102, member B							122	120	120					1																	109143213		2203	4300	6503	SO:0001583	missense	284611							g.chr1:109143213C>A	CR749397	CCDS30786.2	1p13.3	2012-11-05			ENSG00000162636	ENSG00000162636			27637	protein-coding gene	gene with protein product	"sym-3 homolog B (C. elegans)"						Standard	NM_001010883		Approved	DKFZp779B126, SYM-3B	uc010ouy.2	Q5T8I3	OTTHUMG00000010967	ENST00000370035.3:c.163C>A	1.37:g.109143213C>A	ENSP00000359052:p.Arg55Ser					FAM102B_ENST00000405454.1_Missense_Mutation_p.R55S	p.R55S	NM_001010883.2	NP_001010883.2	Q5T8I3	F102B_HUMAN		Colorectal(144;0.0217)|Lung(183;0.109)|COAD - Colon adenocarcinoma(174;0.141)|Epithelial(280;0.182)	2	503	+		all_epithelial(167;5.52e-05)|all_lung(203;0.00026)|Lung NSC(277;0.000508)	55					A1L1A1|B0QZ46|B0QZ47|Q68DH7	Missense_Mutation	SNP	ENST00000370035.3	37	c.163C>A	CCDS30786.2	.	.	.	.	.	.	.	.	.	.	C	15.50	2.851293	0.51270	.	.	ENSG00000162636	ENST00000370035;ENST00000405454;ENST00000437902	T;T	0.41400	1.0;1.0	5.37	5.37	0.77165	.	0.512727	0.24287	N	0.039845	T	0.16471	0.0396	L	0.34521	1.04	0.28618	N	0.908304	B	0.27594	0.182	B	0.32864	0.154	T	0.10753	-1.0616	10	0.07482	T	0.82	0.0	15.7211	0.77710	0.0:0.863:0.137:0.0	.	55	Q5T8I3	F102B_HUMAN	S	55	ENSP00000359052:R55S;ENSP00000386084:R55S	ENSP00000359052:R55S	R	+	1	0	FAM102B	108944736	0.997000	0.39634	0.995000	0.50966	0.939000	0.58152	3.404000	0.52623	2.671000	0.90904	0.557000	0.71058	CGC		0.398	FAM102B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030188.3	NM_001010883		3	55	1	0	0.115264	1	0.115264	3	55					A	109143213	C	A	109143213	3	1	392	1	0	0	0	0	1	0	0	0	5383	884	31	5	169	5	FAM102B	1	109143213	Missense_Mutation	SNP	C	TCGA-V1-A9Z7-01A-11D-A41K-08	72835861	109143213	140107408	4	19194											
LPGAT1	9926	broad.mit.edu	37	chr1	211923271	211923271	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	caatggtaaaaatactgaatGatgttgtaccacatatagcc	16	11	7	7	0	0	2	0	2	0	0	0	2	0	2	2	1	3	3	2	1	9	6	rs370753583		TCGA-V1-A9Z7-01A-11D-A41K-08	TCGA-V1-A9Z7-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10f30605-2413-49d7-a9e7-042fb7c2c336	87158802-66e8-4c56-9f08-3cb5033e6cb4	g.chr1:211923271G>A	ENST00000366997.4	-	8	1309	c.1083C>T	c.(1081-1083)atC>atT	p.I361I	LPGAT1_ENST00000366996.1_Silent_p.I361I	NM_014873.2	NP_055688.1	Q92604	LGAT1_HUMAN	lysophosphatidylglycerol acyltransferase 1	361					glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	transferase activity, transferring acyl groups (GO:0016746)			breast(1)|endometrium(2)|large_intestine(1)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	16				OV - Ovarian serous cystadenocarcinoma(81;0.00773)|all cancers(67;0.0765)|Epithelial(68;0.114)		AATACTGAATGATGTTGTACC	0.398																																						ENST00000366997.4																			0				breast(1)|endometrium(2)|large_intestine(1)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						c.(1081-1083)atC>atT		lysophosphatidylglycerol acyltransferase 1							144	148	147					1																	211923271		2203	4300	6503	SO:0001819	synonymous_variant	9926				phospholipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	acyltransferase activity	g.chr1:211923271G>A	D86960	CCDS31018.1	1q32.3	2008-05-14	2004-11-25	2004-11-26	ENSG00000123684	ENSG00000123684			28985	protein-coding gene	gene with protein product		610473	"family with sequence similarity 34, member A"	FAM34A		9039502, 15485873	Standard	NM_014873		Approved	KIAA0205, FAM34A1, NET8	uc001hiv.3	Q92604	OTTHUMG00000037120	ENST00000366997.4:c.1083C>T	1.37:g.211923271G>A						LPGAT1_ENST00000366996.1_Silent_p.I361I	p.I361I	NM_014873.2	NP_055688.1	Q92604	LGAT1_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.00773)|all cancers(67;0.0765)|Epithelial(68;0.114)	8	1309	-			361					Q53YL2	Silent	SNP	ENST00000366997.4	37	c.1083C>T	CCDS31018.1																																																																																				0.398	LPGAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090150.1	NM_014873		4	125	0	0	0	1	0	4	125					A	211923271	G	A	211923271	2	1	392	1	0	0	0	0	0	0	0	1	8914	1280	45	3		3	LPGAT1	1	211923271	Silent	SNP	G	TCGA-V1-A9Z7-01A-11D-A41K-08	102780058	211923271	37327350	5	19195											
FH	2271	broad.mit.edu	37	chr1	241671932	241671932	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtaagtggaacagcatcctGagtatgagtacgtccaatct	13	10	10	8	1	1	2	0	2	1	0	3	3	3	3	2	1	3	4	2	1	5	3			TCGA-V1-A9Z7-01A-11D-A41K-08	TCGA-V1-A9Z7-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10f30605-2413-49d7-a9e7-042fb7c2c336	87158802-66e8-4c56-9f08-3cb5033e6cb4	g.chr1:241671932G>T	ENST00000366560.3	-	5	747	c.709C>A	c.(709-711)Cag>Aag	p.Q237K		NM_000143.3	NP_000134.2	P07954	FUMH_HUMAN	fumarate hydratase	237					cellular metabolic process (GO:0044237)|fumarate metabolic process (GO:0006106)|homeostasis of number of cells within a tissue (GO:0048873)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|tricarboxylic acid cycle enzyme complex (GO:0045239)	fumarate hydratase activity (GO:0004333)			biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|skin(2)	26	Ovarian(103;0.103)	all_cancers(173;2.37e-314)|all_epithelial(177;5.17e-286)|Breast(1374;1.06e-10)|Acute lymphoblastic leukemia(190;4.93e-10)|all_neural(198;0.00118)	OV - Ovarian serous cystadenocarcinoma(106;0.0214)	Colorectal(1306;2.33e-53)|COAD - Colon adenocarcinoma(196;1.05e-44)|KIRC - Kidney renal clear cell carcinoma(1967;0.000109)		ACAGCATCCTGAGTATGAGTA	0.398			"Mis, N, F"			"lieomyomatosis, renal"			Hereditary Leiomyomatosis and Renal Cell Cancer																												Melanoma(148;1573 2486 7381 46575)	ENST00000366560.3			yes	Rec		hereditary leiomyomatosis and renal cell cancer	1	1q42.1	2271	"Mis, N, F"	fumarate hydratase			"E, M"		"lieomyomatosis, renal"			0				biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|skin(2)	26						c.(709-711)Cag>Aag		fumarate hydratase							136	127	130					1																	241671932		2203	4300	6503	SO:0001583	missense	2271	Hereditary Leiomyomatosis and Renal Cell Cancer	Familial Cancer Database	HLRCC, Reed syndrome, Hereditary Multiple Leiomyomata of Skin and Uterus	fumarate metabolic process|tricarboxylic acid cycle	cell junction|mitochondrial matrix|tricarboxylic acid cycle enzyme complex	fumarate hydratase activity	g.chr1:241671932G>T	BC003108	CCDS1617.1	1q42.1	2014-09-17			ENSG00000091483	ENSG00000091483	4.2.1.2		3700	protein-coding gene	gene with protein product		136850					Standard	NM_000143		Approved	fumarase	uc001hyx.3	P07954	OTTHUMG00000039597	ENST00000366560.3:c.709C>A	1.37:g.241671932G>T	ENSP00000355518:p.Gln237Lys						p.Q237K	NM_000143.3	NP_000134.2	P07954	FUMH_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0214)	Colorectal(1306;2.33e-53)|COAD - Colon adenocarcinoma(196;1.05e-44)|KIRC - Kidney renal clear cell carcinoma(1967;0.000109)	5	747	-	Ovarian(103;0.103)	all_cancers(173;2.37e-314)|all_epithelial(177;5.17e-286)|Breast(1374;1.06e-10)|Acute lymphoblastic leukemia(190;4.93e-10)|all_neural(198;0.00118)	237					B1ANK7	Missense_Mutation	SNP	ENST00000366560.3	37	c.709C>A	CCDS1617.1	.	.	.	.	.	.	.	.	.	.	G	29.9	5.046699	0.93740	.	.	ENSG00000091483	ENST00000366560	D	0.99685	-6.4	5.65	5.65	0.86999	Lyase 1, N-terminal (1);L-Aspartase-like (1);	0.000000	0.85682	D	0.000000	D	0.99796	0.9913	H	0.96015	3.755	0.80722	D	1	D	0.63880	0.993	P	0.62382	0.901	D	0.97280	0.9917	10	0.87932	D	0	-19.4475	17.5778	0.87956	0.0:0.0:1.0:0.0	.	237	P07954	FUMH_HUMAN	K	237	ENSP00000355518:Q237K	ENSP00000355518:Q237K	Q	-	1	0	FH	239738555	1.000000	0.71417	0.995000	0.50966	0.980000	0.70556	9.420000	0.97426	2.825000	0.97269	0.655000	0.94253	CAG		0.398	FH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095490.1	NM_000143		5	62	1	0	1.23904e-05	1	1.30258e-05	5	62					T	241671932	G	T	241671932	3	4	392	1	0	0	0	0	1	0	0	0	5875	1299	45	5	847	5	FH	1	241671932	Missense_Mutation	SNP	G	TCGA-V1-A9Z7-01A-11D-A41K-08	29748661	241671932	7578689	6	19196											
TTC15	51112	broad.mit.edu	37	chr2	3391659	3391659	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cgggcgacctgggccgagtgCgggacgaagctgagcccgga	7	3	19	12	6	0	1	0	1	0	0	0	6	0	3	3	4	3	1	3	4	1	0			TCGA-V1-A9Z7-01A-11D-A41K-08	TCGA-V1-A9Z7-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10f30605-2413-49d7-a9e7-042fb7c2c336	87158802-66e8-4c56-9f08-3cb5033e6cb4	g.chr2:3391659C>T	ENST00000324266.5	+	2	460	c.265C>T	c.(265-267)Cgg>Tgg	p.R89W	TRAPPC12_ENST00000382110.2_Missense_Mutation_p.R89W	NM_016030.5	NP_057114.5	Q8WVT3	TPC12_HUMAN	trafficking protein particle complex 12	89					vesicle-mediated transport (GO:0016192)												GGGCCGAGTGCGGGACGAAGC	0.711																																						ENST00000324266.5																			0											c.(265-267)Cgg>Tgg		trafficking protein particle complex 12							21	19	20					2																	3391659		2197	4290	6487	SO:0001583	missense	51112						binding	g.chr2:3391659C>T	BC017475	CCDS1652.1	2p25.3	2013-01-10	2011-12-12	2011-12-12	ENSG00000171853	ENSG00000171853		"Trafficking protein particle complex", "Tetratricopeptide (TTC) repeat domain containing"	24284	protein-coding gene	gene with protein product		614139	"tetratricopeptide repeat domain 15"	TTC15		10810093, 21525244, 20562859	Standard	NM_016030		Approved	CGI-87, TTC-15	uc002qxm.1	Q8WVT3	OTTHUMG00000090328	ENST00000324266.5:c.265C>T	2.37:g.3391659C>T	ENSP00000324318:p.Arg89Trp					TRAPPC12_ENST00000382110.2_Missense_Mutation_p.R89W	p.R89W	NM_016030.5	NP_057114.5	Q8WVT3	TTC15_HUMAN			2	460	+			89					B3KV01|D6W4Y2|Q8WVW1|Q9Y395	Missense_Mutation	SNP	ENST00000324266.5	37	c.265C>T	CCDS1652.1	.	.	.	.	.	.	.	.	.	.	C	12.07	1.828161	0.32329	.	.	ENSG00000171853	ENST00000382110;ENST00000304601;ENST00000324266	T;T	0.56275	0.47;0.47	5.21	5.21	0.72293	.	0.500306	0.21370	N	0.075645	T	0.55545	0.1927	N	0.22421	0.69	0.23758	N	0.99692	D;D;D	0.76494	0.997;0.996;0.999	B;B;P	0.57776	0.424;0.424;0.827	T	0.53443	-0.8438	10	0.72032	D	0.01	.	16.057	0.80814	0.0:1.0:0.0:0.0	.	72;89;89	E7ENL7;Q8WVT3;Q53S18	.;TPC12_HUMAN;.	W	89;72;89	ENSP00000371544:R89W;ENSP00000324318:R89W	ENSP00000303612:R72W	R	+	1	2	TTC15	3370666	1.000000	0.71417	0.989000	0.46669	0.009000	0.06853	3.149000	0.50655	2.697000	0.92050	0.563000	0.77884	CGG		0.711	TRAPPC12-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206693.2	NM_016030		2	2	0	0	0	1	0	2	2					T	3391659	C	T	3391659	3	4	392	1	0	0	0	0	1	0	0	0	16679	759	27	1	267	1	TTC15	2	3391659	Missense_Mutation	SNP	C	TCGA-V1-A9Z7-01A-11D-A41K-08		3391659	239807714	7	19197											
LCT	3938	broad.mit.edu	37	chr2	136567051	136567051	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atcggcatccagctggtgatAgctgtcacaggcgatgtctc	8	10	12	11	2	2	1	1	1	1	0	5	2	3	1	1	3	2	3	1	3	1	1			TCGA-V1-A9Z7-01A-11D-A41K-08	TCGA-V1-A9Z7-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10f30605-2413-49d7-a9e7-042fb7c2c336	87158802-66e8-4c56-9f08-3cb5033e6cb4	g.chr2:136567051A>C	ENST00000264162.2	-	8	2876	c.2866T>G	c.(2866-2868)Tat>Gat	p.Y956D	Y_RNA_ENST00000363794.1_RNA	NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	956	4 X approximate repeats.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	glycosylceramidase activity (GO:0017042)|lactase activity (GO:0000016)			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)	Vitamin C(DB00126)	AGCTGGTGATAGCTGTCACAG	0.527																																						ENST00000264162.2																			0				breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124						c.(2866-2868)Tat>Gat		lactase							97	94	95					2																	136567051		2203	4300	6503	SO:0001583	missense	3938				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity	g.chr2:136567051A>C	X07994	CCDS2178.1	2q21	2014-09-17			ENSG00000115850	ENSG00000115850	3.2.1.108, 3.2.1.62		6530	protein-coding gene	gene with protein product		603202					Standard	NM_002299		Approved		uc002tuu.1	P09848	OTTHUMG00000131738	ENST00000264162.2:c.2866T>G	2.37:g.136567051A>C	ENSP00000264162:p.Tyr956Asp						p.Y956D	NM_002299.2	NP_002290.2	P09848	LPH_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.169)	8	2876	-			956			4 X approximate repeats.		Q4ZG58	Missense_Mutation	SNP	ENST00000264162.2	37	c.2866T>G	CCDS2178.1	.	.	.	.	.	.	.	.	.	.	A	21.1	4.097909	0.76870	.	.	ENSG00000115850	ENST00000264162;ENST00000455227	T	0.58060	0.36	5.78	5.78	0.91487	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.000000	0.85682	D	0.000000	D	0.84056	0.5388	H	0.98769	4.325	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.90698	0.4618	10	0.87932	D	0	-19.6265	16.1146	0.81295	1.0:0.0:0.0:0.0	.	956	P09848	LPH_HUMAN	D	956;388	ENSP00000264162:Y956D	ENSP00000264162:Y956D	Y	-	1	0	LCT	136283521	1.000000	0.71417	0.994000	0.49952	0.975000	0.68041	9.339000	0.96797	2.200000	0.70718	0.460000	0.39030	TAT		0.527	LCT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254657.1	NM_002299		25	56	0	0	0	1	0	25	56					C	136567051	A	C	136567051	3	2	392	1	0	0	0	0	1	0	0	0	8693	420	15	5	2957	5	LCT	2	136567051	Missense_Mutation	SNP	A	TCGA-V1-A9Z7-01A-11D-A41K-08	133175392	136567051	106632322	8	19198											
ERBB4	2066	broad.mit.edu	37	chr2	212293169	212293169	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actctgatgggtgaatttccTgtaatgtatacactccagag	11	13	9	8	0	1	3	0	2	1	1	3	3	3	3	2	1	1	2	2	1	4	4			TCGA-V1-A9Z7-01A-11D-A41K-08	TCGA-V1-A9Z7-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10f30605-2413-49d7-a9e7-042fb7c2c336	87158802-66e8-4c56-9f08-3cb5033e6cb4	g.chr2:212293169T>C	ENST00000342788.4	-	22	2993	c.2683A>G	c.(2683-2685)Agg>Ggg	p.R895G	ERBB4_ENST00000402597.1_Missense_Mutation_p.R885G|ERBB4_ENST00000436443.1_Missense_Mutation_p.R895G	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	895	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cardiac muscle tissue regeneration (GO:0061026)|cell fate commitment (GO:0045165)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system morphogenesis (GO:0021551)|embryonic pattern specification (GO:0009880)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|lactation (GO:0007595)|mammary gland alveolus development (GO:0060749)|mammary gland epithelial cell differentiation (GO:0060644)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|neurotrophin TRK receptor signaling pathway (GO:0048011)|olfactory bulb interneuron differentiation (GO:0021889)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of STAT protein import into nucleus (GO:2000366)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|regulation of cell migration (GO:0030334)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	basolateral plasma membrane (GO:0016323)|cytosol (GO:0005829)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|epidermal growth factor receptor binding (GO:0005154)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transcription regulatory region DNA binding (GO:0044212)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)	Afatinib(DB08916)	GTGAATTTCCTGTAATGTATA	0.299										TSP Lung(8;0.080)																												ENST00000342788.4																			0				NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179						c.(2683-2685)Agg>Ggg		v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4							89	91	91					2																	212293169		2203	4295	6498	SO:0001583	missense	2066				cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity	g.chr2:212293169T>C	L07868	CCDS2394.1, CCDS42811.1	2q33.3-q34	2013-10-11	2013-07-09		ENSG00000178568	ENSG00000178568			3432	protein-coding gene	gene with protein product		600543	"v-erb-a avian erythroblastic leukemia viral oncogene homolog-like 4"			7700649, 17018285	Standard	NM_001042599		Approved	ALS19	uc002veg.1	Q15303	OTTHUMG00000133012	ENST00000342788.4:c.2683A>G	2.37:g.212293169T>C	ENSP00000342235:p.Arg895Gly	TSP Lung(8;0.080)				ERBB4_ENST00000402597.1_Missense_Mutation_p.R885G|ERBB4_ENST00000436443.1_Missense_Mutation_p.R895G	p.R895G	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)	22	2993	-		Renal(323;0.06)|Lung NSC(271;0.197)	895			Protein kinase.		B7ZLD7|B7ZLE2|B7ZLE3|Q2M1W1|Q59EW4	Missense_Mutation	SNP	ENST00000342788.4	37	c.2683A>G	CCDS2394.1	.	.	.	.	.	.	.	.	.	.	T	18.21	3.574195	0.65878	.	.	ENSG00000178568	ENST00000342788;ENST00000436443;ENST00000402597	D;D;D	0.82344	-1.6;-1.6;-1.6	5.59	5.59	0.84812	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.040231	0.85682	D	0.000000	T	0.75170	0.3813	N	0.04655	-0.195	0.80722	D	1	D;B;D;D	0.58620	0.979;0.288;0.979;0.983	P;B;P;P	0.52309	0.569;0.347;0.569;0.695	T	0.78463	-0.2194	10	0.33940	T	0.23	.	15.7639	0.78110	0.0:0.0:0.0:1.0	.	885;885;895;895	Q15303-4;Q15303-2;Q15303-3;Q15303	.;.;.;ERBB4_HUMAN	G	895;895;885	ENSP00000342235:R895G;ENSP00000403204:R895G;ENSP00000385565:R885G	ENSP00000342235:R895G	R	-	1	2	ERBB4	212001414	1.000000	0.71417	0.997000	0.53966	0.987000	0.75469	6.019000	0.70818	2.125000	0.65367	0.528000	0.53228	AGG		0.299	ERBB4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256597.1	NM_001042599		29	94	0	0	0	1	0	29	94					C	212293169	T	C	212293169	3	2	392	1	0	0	0	0	1	0	0	0	5209	1579	55	4	1271	4	ERBB4	2	212293169	Missense_Mutation	SNP	T	TCGA-V1-A9Z7-01A-11D-A41K-08	75726118	212293169	30906204	9	19199											
ANKZF1	55139	broad.mit.edu	37	chr2	220098130	220098130	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgctggagccaacctgaggcGctacaatgaagccacactat	12	7	10	12	1	0	2	0	2	0	0	0	3	0	3	3	2	5	2	3	2	5	2			TCGA-V1-A9Z7-01A-11D-A41K-08	TCGA-V1-A9Z7-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10f30605-2413-49d7-a9e7-042fb7c2c336	87158802-66e8-4c56-9f08-3cb5033e6cb4	g.chr2:220098130G>A	ENST00000323348.5	+	7	968	c.794G>A	c.(793-795)cGc>cAc	p.R265H	ANKZF1_ENST00000409849.1_Missense_Mutation_p.R55H|ANKZF1_ENST00000410034.3_Missense_Mutation_p.R265H	NM_018089.2	NP_060559.2	Q9H8Y5	ANKZ1_HUMAN	ankyrin repeat and zinc finger domain containing 1	265						membrane (GO:0016020)	metal ion binding (GO:0046872)	p.R265L(1)		breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	23		Renal(207;0.0474)		Epithelial(149;1.2e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AACCTGAGGCGCTACAATGAA	0.512																																						ENST00000323348.5																			1	Substitution - Missense(1)	p.R265L(1)	lung(1)	breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	23						c.(793-795)cGc>cAc		ankyrin repeat and zinc finger domain containing 1							31	33	32					2																	220098130		1959	4142	6101	SO:0001583	missense	55139					intracellular	zinc ion binding	g.chr2:220098130G>A	AF364318	CCDS42821.1, CCDS63129.1	2q35	2013-01-10			ENSG00000163516	ENSG00000163516		"Zinc fingers, C2H2-type", "Ankyrin repeat domain containing"	25527	protein-coding gene	gene with protein product						12477932	Standard	NM_018089		Approved	FLJ10415, ZNF744	uc002vkg.3	Q9H8Y5	OTTHUMG00000154533	ENST00000323348.5:c.794G>A	2.37:g.220098130G>A	ENSP00000321617:p.Arg265His					ANKZF1_ENST00000409849.1_Missense_Mutation_p.R55H|ANKZF1_ENST00000410034.3_Missense_Mutation_p.R265H	p.R265H	NM_018089.2	NP_060559.2	Q9H8Y5	ANKZ1_HUMAN		Epithelial(149;1.2e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	7	968	+		Renal(207;0.0474)	265					Q9NVZ4	Missense_Mutation	SNP	ENST00000323348.5	37	c.794G>A	CCDS42821.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.343153	0.82022	.	.	ENSG00000163516	ENST00000323348;ENST00000409849;ENST00000410034	T;T;T	0.65732	-0.17;0.46;-0.17	4.87	3.99	0.46301	.	0.052127	0.85682	N	0.000000	D	0.82591	0.5070	M	0.92367	3.3	0.80722	D	1	P;D;P	0.89917	0.76;1.0;0.84	B;D;B	0.91635	0.147;0.999;0.07	D	0.86577	0.1851	10	0.87932	D	0	-6.0856	13.008	0.58717	0.0773:0.0:0.9227:0.0	.	209;55;265	B4DZT1;B4E0V1;Q9H8Y5	.;.;ANKZ1_HUMAN	H	265;55;265	ENSP00000321617:R265H;ENSP00000386815:R55H;ENSP00000386337:R265H	ENSP00000321617:R265H	R	+	2	0	ANKZF1	219806374	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	7.303000	0.78871	1.274000	0.44362	0.655000	0.94253	CGC		0.512	ANKZF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335790.1	NM_018089		8	18	0	0	0	1	0	8	18					A	220098130	G	A	220098130	3	1	392	1	0	0	0	0	1	0	0	0	693	1087	38	1	816	1	ANKZF1	2	220098130	Missense_Mutation	SNP	G	TCGA-V1-A9Z7-01A-11D-A41K-08	7804961	220098130	23101243	10	19200											
CUL3	8452	broad.mit.edu	37	chr2	225371708	225371708	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacgactaaataacttgtacAtgcaaccaaggtctacaaat	17	9	5	10	1	1	0	0	0	1	0	1	1	1	0	1	1	5	2	1	1	8	5			TCGA-V1-A9Z7-01A-11D-A41K-08	TCGA-V1-A9Z7-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10f30605-2413-49d7-a9e7-042fb7c2c336	87158802-66e8-4c56-9f08-3cb5033e6cb4	g.chr2:225371708A>C	ENST00000264414.4	-	7	1234	c.896T>G	c.(895-897)aTg>aGg	p.M299R	CUL3_ENST00000409777.1_Missense_Mutation_p.M275R|CUL3_ENST00000409096.1_Missense_Mutation_p.M275R|CUL3_ENST00000344951.4_Missense_Mutation_p.M233R	NM_003590.4	NP_003581.1	Q13618	CUL3_HUMAN	cullin 3	299					cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|COPII vesicle coating (GO:0048208)|cyclin catabolic process (GO:0008054)|embryonic cleavage (GO:0040016)|ER to Golgi vesicle-mediated transport (GO:0006888)|G1/S transition of mitotic cell cycle (GO:0000082)|gastrulation (GO:0007369)|integrin-mediated signaling pathway (GO:0007229)|intrinsic apoptotic signaling pathway (GO:0097193)|mitotic metaphase plate congression (GO:0007080)|negative regulation of Rho protein signal transduction (GO:0035024)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokinesis (GO:0032467)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|stem cell division (GO:0017145)|stress fiber assembly (GO:0043149)|trophectodermal cellular morphogenesis (GO:0001831)|Wnt signaling pathway (GO:0016055)	Cul3-RING ubiquitin ligase complex (GO:0031463)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|membrane (GO:0016020)|nucleus (GO:0005634)|polar microtubule (GO:0005827)	POZ domain binding (GO:0031208)	p.M299R(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(2)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	46		all_lung(227;0.00877)|Lung NSC(271;0.011)|Renal(207;0.0112)|all_hematologic(139;0.138)		Epithelial(121;1.58e-11)|all cancers(144;1.43e-08)|Lung(261;0.00863)|LUSC - Lung squamous cell carcinoma(224;0.00902)		TAACTTGTACATGCAACCAAG	0.358																																						ENST00000264414.4																			1	Substitution - Missense(1)	p.M299R(1)	prostate(1)	endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(2)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	46						c.(895-897)aTg>aGg		cullin 3							81	71	74					2																	225371708		2203	4300	6503	SO:0001583	missense	8452				cell cycle arrest|cell migration|cyclin catabolic process|cytokinesis|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|mitotic anaphase|negative regulation of Rho protein signal transduction|positive regulation of cell proliferation|protein ubiquitination|stress fiber assembly	Cul3-RING ubiquitin ligase complex|Golgi apparatus|nucleus|polar microtubule	ubiquitin protein ligase binding	g.chr2:225371708A>C	U58089	CCDS2462.1, CCDS58751.1	2q36.2	2011-05-24			ENSG00000036257	ENSG00000036257			2553	protein-coding gene	gene with protein product		603136				8681378, 17192413	Standard	NM_003590		Approved		uc002vny.3	Q13618	OTTHUMG00000133167	ENST00000264414.4:c.896T>G	2.37:g.225371708A>C	ENSP00000264414:p.Met299Arg					CUL3_ENST00000409096.1_Missense_Mutation_p.M275R|CUL3_ENST00000409777.1_Missense_Mutation_p.M275R|CUL3_ENST00000344951.4_Missense_Mutation_p.M233R	p.M299R	NM_003590.4	NP_003581.1	Q13618	CUL3_HUMAN		Epithelial(121;1.58e-11)|all cancers(144;1.43e-08)|Lung(261;0.00863)|LUSC - Lung squamous cell carcinoma(224;0.00902)	7	1234	-		all_lung(227;0.00877)|Lung NSC(271;0.011)|Renal(207;0.0112)|all_hematologic(139;0.138)	299					A8K536|B8ZZC3|O75415|Q569L3|Q9UBI8|Q9UET7	Missense_Mutation	SNP	ENST00000264414.4	37	c.896T>G	CCDS2462.1	.	.	.	.	.	.	.	.	.	.	A	25.9	4.685114	0.88639	.	.	ENSG00000036257	ENST00000264414;ENST00000344951;ENST00000409096;ENST00000409777	T;T;T;T	0.79554	-1.28;-1.28;-1.28;-1.28	5.62	5.62	0.85841	Cullin, N-terminal (1);Cullin repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.91978	0.7459	H	0.95645	3.7	0.80722	D	1	D;D;D	0.56968	0.973;0.978;0.978	P;P;P	0.61397	0.822;0.888;0.888	D	0.94256	0.7498	10	0.87932	D	0	.	15.8227	0.78673	1.0:0.0:0.0:0.0	.	233;277;299	Q13618-3;Q53S54;Q13618	.;.;CUL3_HUMAN	R	299;233;275;275	ENSP00000264414:M299R;ENSP00000343601:M233R;ENSP00000387200:M275R;ENSP00000386525:M275R	ENSP00000264414:M299R	M	-	2	0	CUL3	225079952	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	8.932000	0.92897	2.155000	0.67459	0.482000	0.46254	ATG		0.358	CUL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256871.2			11	29	0	0	0	1	0	11	29					C	225371708	A	C	225371708	3	2	392	1	0	0	0	0	1	0	0	0	4056	217	8	5	1450	5	CUL3	2	225371708	Missense_Mutation	SNP	A	TCGA-V1-A9Z7-01A-11D-A41K-08	5273578	225371708	17827665	11	19201											
CCDC13	152206	broad.mit.edu	37	chr3	42751216	42751216	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	ttgggattccacgggcacatCggagagctgggcaaaggatg	10	7	16	8	2	0	1	0	0	0	1	2	4	1	3	1	5	1	3	1	5	1	2			TCGA-V1-A9Z7-01A-11D-A41K-08	TCGA-V1-A9Z7-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10f30605-2413-49d7-a9e7-042fb7c2c336	87158802-66e8-4c56-9f08-3cb5033e6cb4	g.chr3:42751216C>G	ENST00000310232.6	-	15	2031	c.1948G>C	c.(1948-1950)Gat>Cat	p.D650H		NM_144719.3	NP_653320.3	Q8IYE1	CCD13_HUMAN	coiled-coil domain containing 13	650										endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(11)|ovary(1)|prostate(3)|skin(1)|urinary_tract(1)	25						ACGGGCACATCGGAGAGCTGG	0.592																																						ENST00000310232.6																			0				endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(11)|ovary(1)|prostate(3)|skin(1)|urinary_tract(1)	25						c.(1948-1950)Gat>Cat		coiled-coil domain containing 13							221	193	202					3																	42751216		2203	4300	6503	SO:0001583	missense	152206							g.chr3:42751216C>G	AK058196	CCDS2705.1	3p22.1	2005-01-25			ENSG00000244607	ENSG00000244607			26358	protein-coding gene	gene with protein product						12477932	Standard	NM_144719		Approved	FLJ25467	uc003cly.4	Q8IYE1	OTTHUMG00000133046	ENST00000310232.6:c.1948G>C	3.37:g.42751216C>G	ENSP00000309836:p.Asp650His						p.D650H	NM_144719.3	NP_653320.3	Q8IYE1	CCD13_HUMAN			15	2031	-			650						Missense_Mutation	SNP	ENST00000310232.6	37	c.1948G>C	CCDS2705.1	.	.	.	.	.	.	.	.	.	.	C	10.99	1.506954	0.26949	.	.	ENSG00000244607	ENST00000310232	T	0.12147	2.71	4.6	-0.957	0.10350	.	1.994340	0.02500	N	0.090369	T	0.14098	0.0341	L	0.50333	1.59	0.09310	N	1	B	0.06786	0.001	B	0.09377	0.004	T	0.32587	-0.9901	10	0.56958	D	0.05	.	4.5279	0.11990	0.0:0.3279:0.3464:0.3257	.	650	Q8IYE1	CCD13_HUMAN	H	650	ENSP00000309836:D650H	ENSP00000309836:D650H	D	-	1	0	CCDC13	42726220	0.001000	0.12720	0.004000	0.12327	0.189000	0.23516	-0.207000	0.09384	-0.432000	0.07297	-0.140000	0.14226	GAT		0.592	CCDC13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256652.1	NM_144719		6	81	0	0	0	1	0	6	81					G	42751216	C	G	42751216	3	3	392	1	0	0	0	0	1	0	0	0	2765	884	31	5	207	5	CCDC13	3	42751216	Missense_Mutation	SNP	C	TCGA-V1-A9Z7-01A-11D-A41K-08		42751216	155271214	12	19202											
CCR5	1234	broad.mit.edu	37	chr3	46415244	46415244	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agctatgcaggtgacagagaCtcttgggatgacgcactgct	10	9	13	9	1	1	3	0	2	1	1	1	5	1	4	0	2	3	4	0	2	1	2			TCGA-V1-A9Z7-01A-11D-A41K-08	TCGA-V1-A9Z7-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10f30605-2413-49d7-a9e7-042fb7c2c336	87158802-66e8-4c56-9f08-3cb5033e6cb4	g.chr3:46415244C>G	ENST00000292303.4	+	2	997	c.851C>G	c.(850-852)aCt>aGt	p.T284S	CCR5_ENST00000343801.4_Missense_Mutation_p.T284S|RP11-24F11.2_ENST00000451485.1_RNA|CCR5_ENST00000445772.1_Missense_Mutation_p.T284S	NM_001100168.1	NP_001093638.1	P51681	CCR5_HUMAN	chemokine (C-C motif) receptor 5 (gene/pseudogene)	284					calcium ion transport (GO:0006816)|calcium-mediated signaling (GO:0019722)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|cellular defense response (GO:0006968)|cellular response to lipopolysaccharide (GO:0071222)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|dendritic cell chemotaxis (GO:0002407)|entry into host cell (GO:0030260)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|MAPK cascade (GO:0000165)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to cholesterol (GO:0070723)|signaling (GO:0023052)|viral process (GO:0016032)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|C-C chemokine binding (GO:0019957)|C-C chemokine receptor activity (GO:0016493)|chemokine (C-C motif) ligand 5 binding (GO:0071791)|chemokine receptor activity (GO:0004950)|coreceptor activity (GO:0015026)|phosphatidylinositol phospholipase C activity (GO:0004435)			central_nervous_system(1)|large_intestine(2)|lung(13)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20				BRCA - Breast invasive adenocarcinoma(193;0.00112)|KIRC - Kidney renal clear cell carcinoma(197;0.017)|Kidney(197;0.02)	Maraviroc(DB04835)	GTGACAGAGACTCTTGGGATG	0.468																																						ENST00000343801.4																			0				central_nervous_system(1)|large_intestine(2)|lung(13)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20						c.(850-852)aCt>aGt		chemokine (C-C motif) receptor 5 (gene/pseudogene)	Maraviroc(DB04835)						249	241	244					3																	46415244		2203	4296	6499	SO:0001583	missense	1234				cell-cell signaling|cellular defense response|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|entry into host cell|immune response|inflammatory response|initiation of viral infection	endosome|external side of plasma membrane|integral to plasma membrane	actin binding|C-C chemokine receptor activity|coreceptor activity|phosphatidylinositol phospholipase C activity	g.chr3:46415244C>G		CCDS2739.1	3p21	2012-08-08	2012-01-23		ENSG00000160791	ENSG00000160791		"GPCR / Class A : Chemokine receptors : C-C motif", "CD molecules"	1606	protein-coding gene	gene with protein product		601373	"chemokine (C-C motif) receptor 5"	CMKBR5		8639485	Standard	NM_001100168		Approved	CKR-5, CC-CKR-5, CKR5, CD195, IDDM22	uc003cpo.4	P51681	OTTHUMG00000133481	ENST00000292303.4:c.851C>G	3.37:g.46415244C>G	ENSP00000292303:p.Thr284Ser					CCR5_ENST00000445772.1_Missense_Mutation_p.T284S|CCR5_ENST00000292303.4_Missense_Mutation_p.T284S|RP11-24F11.2_ENST00000451485.1_RNA	p.T284S	NM_000579.3	NP_000570.1	P51681	CCR5_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00112)|KIRC - Kidney renal clear cell carcinoma(197;0.017)|Kidney(197;0.02)	3	1208	+			284					O14692|O14693|O14695|O14696|O14697|O14698|O14699|O14700|O14701|O14702|O14703|O14704|O14705|O14706|O14707|O14708|O15538|Q9UPA4	Missense_Mutation	SNP	ENST00000292303.4	37	c.851C>G	CCDS2739.1	.	.	.	.	.	.	.	.	.	.	C	16.24	3.066934	0.55539	.	.	ENSG00000160791	ENST00000343801;ENST00000400886;ENST00000292303;ENST00000445772	T;T;T	0.71817	-0.6;-0.6;-0.6	5.69	5.69	0.88448	GPCR, rhodopsin-like superfamily (1);	0.118823	0.35739	U	0.003012	T	0.70237	0.3201	L	0.52364	1.645	0.26463	N	0.9754	B	0.30193	0.272	B	0.38056	0.264	T	0.67791	-0.5579	10	0.66056	D	0.02	.	14.6269	0.68626	0.1456:0.8544:0.0:0.0	.	284	P51681	CCR5_HUMAN	S	284;264;284;284	ENSP00000343985:T284S;ENSP00000292303:T284S;ENSP00000404881:T284S	ENSP00000292303:T284S	T	+	2	0	CCR5	46390248	0.312000	0.24545	0.963000	0.40424	0.976000	0.68499	1.172000	0.31908	2.676000	0.91093	0.561000	0.74099	ACT		0.468	CCR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257377.2	NM_000579		26	269	0	0	0	1	0	26	269					G	46415244	C	G	46415244	3	3	392	1	0	0	0	0	1	0	0	0	2944	565	20	5	853	5	CCR5	3	46415244	Missense_Mutation	SNP	C	TCGA-V1-A9Z7-01A-11D-A41K-08	3664028	46415244	151607186	13	19203											
LPP	4026	broad.mit.edu	37	chr3	188242556	188242556	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccttgagtgcagctccccctAtaagcctcggcctccacagg	7	8	9	17	1	0	1	0	1	0	0	3	1	2	1	6	2	3	2	6	2	2	3			TCGA-V1-A9Z7-01A-11D-A41K-08	TCGA-V1-A9Z7-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10f30605-2413-49d7-a9e7-042fb7c2c336	87158802-66e8-4c56-9f08-3cb5033e6cb4	g.chr3:188242556A>G	ENST00000312675.4	+	5	656	c.410A>G	c.(409-411)tAt>tGt	p.Y137C	LPP_ENST00000448637.1_Missense_Mutation_p.Y137C|LPP_ENST00000543006.1_Missense_Mutation_p.Y137C	NM_001167672.1|NM_005578.3	NP_001161144.1|NP_005569.1	Q93052	LPP_HUMAN	LIM domain containing preferred translocation partner in lipoma	137	Pro-rich.				cell adhesion (GO:0007155)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	zinc ion binding (GO:0008270)		HMGA2/LPP(161)	NS(1)|breast(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)	10	all_cancers(143;1.37e-09)|all_hematologic(3;0.0429)|Ovarian(172;0.088)	all_lung(153;0.00139)|Lung NSC(153;0.00202)		GBM - Glioblastoma multiforme(93;0.00602)		AGCTCCCCCTATAAGCCTCGG	0.537			T	"HMGA2, MLL, C12orf9"	"lipoma, leukemia"																																	ENST00000312675.4				Dom	yes		3	3q28	4026	T	LIM domain containing preferred translocation partner in lipoma			"L, M"	"HMGA2, MLL, C12orf9"		"lipoma, leukemia"	HMGA2/LPP(161)	0				NS(1)|breast(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)	10						c.(409-411)tAt>tGt		LIM domain containing preferred translocation partner in lipoma							133	125	127					3																	188242556		2203	4300	6503	SO:0001583	missense	4026				cell adhesion	cytoplasm|focal adhesion|nucleus	protein binding|zinc ion binding	g.chr3:188242556A>G	AL833171	CCDS3291.1	3q27-q28	2004-03-02	2002-01-14		ENSG00000145012	ENSG00000145012			6679	protein-coding gene	gene with protein product		600700	"LIM domain-containing preferred translocation partner in lipoma"			8812423	Standard	XM_005247453		Approved		uc003frs.2	Q93052	OTTHUMG00000156387	ENST00000312675.4:c.410A>G	3.37:g.188242556A>G	ENSP00000318089:p.Tyr137Cys					LPP_ENST00000448637.1_Missense_Mutation_p.Y137C|LPP_ENST00000543006.1_Missense_Mutation_p.Y137C	p.Y137C	NM_001167672.1|NM_005578.3	NP_001161144.1|NP_005569.1	Q93052	LPP_HUMAN		GBM - Glioblastoma multiforme(93;0.00602)	5	656	+	all_cancers(143;1.37e-09)|all_hematologic(3;0.0429)|Ovarian(172;0.088)	all_lung(153;0.00139)|Lung NSC(153;0.00202)	137			Pro-rich.		A1L4L6|D3DNV6|Q8NFX5	Missense_Mutation	SNP	ENST00000312675.4	37	c.410A>G	CCDS3291.1	.	.	.	.	.	.	.	.	.	.	A	19.68	3.873001	0.72180	.	.	ENSG00000145012	ENST00000448637;ENST00000416784;ENST00000312675;ENST00000543006	T;T;T;T	0.57595	1.79;0.61;0.39;0.39	5.62	5.62	0.85841	.	0.225560	0.47455	D	0.000231	T	0.70552	0.3237	M	0.70275	2.135	0.53005	D	0.999963	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.97110	0.99;1.0;0.996	T	0.71909	-0.4450	10	0.48119	T	0.1	.	13.7694	0.63015	1.0:0.0:0.0:0.0	.	137;137;137	B7Z8W0;C9JUT4;Q93052	.;.;LPP_HUMAN	C	137	ENSP00000393602:Y137C;ENSP00000410340:Y137C;ENSP00000318089:Y137C;ENSP00000438891:Y137C	ENSP00000318089:Y137C	Y	+	2	0	LPP	189725250	1.000000	0.71417	0.997000	0.53966	0.991000	0.79684	6.747000	0.74872	2.151000	0.67156	0.533000	0.62120	TAT		0.537	LPP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344030.1	NM_005578		30	110	0	0	0	1	0	30	110					G	188242556	A	G	188242556	3	3	392	1	0	0	0	0	1	0	0	0	8923	449	16	4	420	4	LPP	3	188242556	Missense_Mutation	SNP	A	TCGA-V1-A9Z7-01A-11D-A41K-08	141827312	188242556	9779874	14	19204											
FARS2	10667	broad.mit.edu	37	chr6	5369234	5369234	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	caggaagaagggggacaactAttacctgaatcggactcaca	15	6	11	9	1	1	2	1	1	0	1	2	5	1	5	1	4	2	0	1	4	6	2	rs397514610		TCGA-V1-A9Z7-01A-11D-A41K-08	TCGA-V1-A9Z7-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10f30605-2413-49d7-a9e7-042fb7c2c336	87158802-66e8-4c56-9f08-3cb5033e6cb4	g.chr6:5369234A>G	ENST00000324331.6	+	2	767	c.431A>G	c.(430-432)tAt>tGt	p.Y144C	FARS2_ENST00000274680.4_Missense_Mutation_p.Y144C			O95363	SYFM_HUMAN	phenylalanyl-tRNA synthetase 2, mitochondrial	144			Y -> C (in COXPD14; results in decreased affinity for tRNA causing a decrease in the catalytic efficiency for tRNA charging; does not affect ATP or Phe binding). {ECO:0000269|PubMed:22499341}.		gene expression (GO:0010467)|phenylalanyl-tRNA aminoacylation (GO:0006432)|tRNA aminoacylation for protein translation (GO:0006418)|tRNA processing (GO:0008033)	mitochondrial matrix (GO:0005759)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|phenylalanine-tRNA ligase activity (GO:0004826)|tRNA binding (GO:0000049)			endometrium(3)|kidney(1)|large_intestine(5)|lung(3)|prostate(1)|stomach(2)	15	Ovarian(93;0.11)	all_hematologic(90;0.0104)			L-Phenylalanine(DB00120)	GGGGACAACTATTACCTGAAT	0.572																																						ENST00000324331.6																			0				endometrium(3)|kidney(1)|large_intestine(5)|lung(3)|prostate(1)|stomach(2)	15						c.(430-432)tAt>tGt		phenylalanyl-tRNA synthetase 2, mitochondrial	L-Phenylalanine(DB00120)						106	95	99					6																	5369234		2203	4300	6503	SO:0001583	missense	10667				phenylalanyl-tRNA aminoacylation|tRNA processing	mitochondrial matrix|soluble fraction	ATP binding|magnesium ion binding|phenylalanine-tRNA ligase activity|tRNA binding	g.chr6:5369234A>G	AF097441	CCDS4494.1	6p25.1	2011-07-01	2007-02-23	2004-12-03	ENSG00000145982	ENSG00000145982	6.1.1.20	"Aminoacyl tRNA synthetases / Class II"	21062	protein-coding gene	gene with protein product	"phenylalanine tRNA ligase 2, mitochondrial"	611592	"phenylalanine-tRNA synthetase 1 (mitochondrial)"	FARS1		10329163	Standard	NM_006567		Approved	dJ236A3.1	uc003mwr.2	O95363	OTTHUMG00000014178	ENST00000324331.6:c.431A>G	6.37:g.5369234A>G	ENSP00000316335:p.Tyr144Cys					FARS2_ENST00000274680.4_Missense_Mutation_p.Y144C	p.Y144C			O95363	SYFM_HUMAN			2	767	+	Ovarian(93;0.11)	all_hematologic(90;0.0104)	144					B2R664|Q53F66|Q5TCS3|Q6FG29|Q9NPY7|Q9P062	Missense_Mutation	SNP	ENST00000324331.6	37	c.431A>G	CCDS4494.1	.	.	.	.	.	.	.	.	.	.	A	19.27	3.794677	0.70452	.	.	ENSG00000145982	ENST00000274680;ENST00000324331	T;T	0.65732	-0.17;-0.17	5.38	4.2	0.49525	Phenylalanyl-tRNA synthetase (1);	0.000000	0.85682	D	0.000000	T	0.80581	0.4650	H	0.96111	3.77	0.53688	D	0.999973	D	0.89917	1.0	D	0.97110	1.0	D	0.85364	0.1109	10	0.87932	D	0	-26.1385	11.1146	0.48254	0.8614:0.0:0.0:0.1386	.	144	O95363	SYFM_HUMAN	C	144	ENSP00000274680:Y144C;ENSP00000316335:Y144C	ENSP00000274680:Y144C	Y	+	2	0	FARS2	5314233	1.000000	0.71417	0.995000	0.50966	0.991000	0.79684	7.149000	0.77396	0.945000	0.37605	0.533000	0.62120	TAT		0.572	FARS2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467790.1	NM_006567		18	43	0	0	0	1	0	18	43					G	5369234	A	G	5369234	3	3	392	1	0	0	0	0	1	0	0	0	5678	449	16	4	433	4	FARS2	6	5369234	Missense_Mutation	SNP	A	TCGA-V1-A9Z7-01A-11D-A41K-08		5369234	165745833	15	19205											
MRPS18B	28973	broad.mit.edu	37	chr6	30593484	30593484	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	catctccaagaagagagtggCcccccacctgagtcaatgcc	11	6	9	15	0	2	3	1	1	1	2	3	4	2	3	6	1	1	0	6	1	3	0	rs148815125		TCGA-V1-A9Z7-01A-11D-A41K-08	TCGA-V1-A9Z7-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10f30605-2413-49d7-a9e7-042fb7c2c336	87158802-66e8-4c56-9f08-3cb5033e6cb4	g.chr6:30593484C>T	ENST00000259873.4	+	7	844	c.687C>T	c.(685-687)ggC>ggT	p.G229G	ATAT1_ENST00000319027.5_5'Flank|ATAT1_ENST00000376485.4_5'Flank|ATAT1_ENST00000329992.8_5'Flank|MRPS18B_ENST00000472229.1_3'UTR|ATAT1_ENST00000318999.7_5'Flank|ATAT1_ENST00000376483.4_5'Flank|ATAT1_ENST00000330083.5_5'Flank|MRPS18B_ENST00000506373.2_3'UTR|ATAT1_ENST00000376478.2_5'Flank	NM_014046.3	NP_054765.1	Q9Y676	RT18B_HUMAN	mitochondrial ribosomal protein S18B	229					translation (GO:0006412)	cell junction (GO:0030054)|mitochondrial small ribosomal subunit (GO:0005763)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	structural constituent of ribosome (GO:0003735)			endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|prostate(1)|skin(2)	13						AAGAGAGTGGCCCCCCACCTG	0.592																																						ENST00000259873.4																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|prostate(1)|skin(2)	13						c.(685-687)ggC>ggT		mitochondrial ribosomal protein S18B							93	99	97					6																	30593484		1510	2709	4219	SO:0001819	synonymous_variant	28973				translation	mitochondrial small ribosomal subunit	protein binding|structural constituent of ribosome	g.chr6:30593484C>T	AF100761	CCDS4682.1	6p21	2012-09-13			ENSG00000204568	ENSG00000204568		"Mitochondrial ribosomal proteins / small subunits"	14516	protein-coding gene	gene with protein product		611982				11279123	Standard	NM_014046		Approved	MRPS18-2, PTD017, C6orf14, HSPC183	uc003nqo.2	Q9Y676	OTTHUMG00000031268	ENST00000259873.4:c.687C>T	6.37:g.30593484C>T						MRPS18B_ENST00000506373.2_3'UTR|MRPS18B_ENST00000472229.1_3'UTR	p.G229G	NM_014046.3	NP_054765.1	Q9Y676	RT18B_HUMAN			7	844	+			229					A6NDQ0|Q659G4|Q9BS27	Silent	SNP	ENST00000259873.4	37	c.687C>T	CCDS4682.1																																																																																				0.592	MRPS18B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076584.2			13	67	0	0	0	1	0	13	67					T	30593484	C	T	30593484	2	4	392	1	0	0	0	0	0	0	0	1	9829	726	26	3		3	MRPS18B	6	30593484	Silent	SNP	C	TCGA-V1-A9Z7-01A-11D-A41K-08	25224250	30593484	140521583	16	19206											
FRK	2444	broad.mit.edu	37	chr6	116263608	116263608	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agttatttgcatctgaatatGaagagtctgtttcaaaatag	14	15	8	4	0	3	3	1	2	2	1	3	3	3	3	0	0	1	3	0	0	7	5			TCGA-V1-A9Z7-01A-11D-A41K-08	TCGA-V1-A9Z7-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10f30605-2413-49d7-a9e7-042fb7c2c336	87158802-66e8-4c56-9f08-3cb5033e6cb4	g.chr6:116263608G>A	ENST00000606080.1	-	8	1933	c.1487C>T	c.(1486-1488)tCa>tTa	p.S496L	FRK_ENST00000538210.1_Missense_Mutation_p.S354L	NM_002031.2	NP_002022.1	P42685	FRK_HUMAN	fyn-related Src family tyrosine kinase	496					cell differentiation (GO:0030154)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|skin(1)|urinary_tract(1)	27		all_cancers(87;0.00559)|all_epithelial(87;0.00738)|Colorectal(196;0.0465)		all cancers(137;0.0128)|OV - Ovarian serous cystadenocarcinoma(136;0.0209)|GBM - Glioblastoma multiforme(226;0.0459)|Epithelial(106;0.0625)	Regorafenib(DB08896)	ATCTGAATATGAAGAGTCTGT	0.343																																						ENST00000606080.1																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|skin(1)|urinary_tract(1)	27						c.(1486-1488)tCa>tTa		fyn-related kinase							112	112	112					6																	116263608		2203	4300	6503	SO:0001583	missense	2444				negative regulation of cell proliferation	cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding	g.chr6:116263608G>A	U00803	CCDS5103.1	6q21-q22.3	2014-06-25	2014-06-25		ENSG00000111816	ENSG00000111816	2.7.10.1	"SH2 domain containing"	3955	protein-coding gene	gene with protein product		606573	"PTK5 protein tyrosine kinase 5", "fyn-related kinase"	PTK5		7510261	Standard	NM_002031		Approved	RAK, GTK	uc003pwi.1	P42685	OTTHUMG00000015424	ENST00000606080.1:c.1487C>T	6.37:g.116263608G>A	ENSP00000476145:p.Ser496Leu					FRK_ENST00000538210.1_Missense_Mutation_p.S354L	p.S496L	NM_002031.2	NP_002022.1	P42685	FRK_HUMAN		all cancers(137;0.0128)|OV - Ovarian serous cystadenocarcinoma(136;0.0209)|GBM - Glioblastoma multiforme(226;0.0459)|Epithelial(106;0.0625)	8	1933	-		all_cancers(87;0.00559)|all_epithelial(87;0.00738)|Colorectal(196;0.0465)	496					B4DY49|Q13128|Q9NTR5	Missense_Mutation	SNP	ENST00000606080.1	37	c.1487C>T	CCDS5103.1	.	.	.	.	.	.	.	.	.	.	G	8.170	0.791378	0.16258	.	.	ENSG00000111816	ENST00000368626;ENST00000538210	T;T	0.74209	-0.82;-0.77	5.07	2.31	0.28768	.	0.000000	0.45606	D	0.000347	T	0.48003	0.1476	L	0.46741	1.465	0.58432	D	0.999999	B	0.18310	0.027	B	0.15052	0.012	T	0.50294	-0.8845	10	0.87932	D	0	.	6.4739	0.22024	0.1688:0.1508:0.6804:0.0	.	496	P42685	FRK_HUMAN	L	496;354	ENSP00000357615:S496L;ENSP00000443075:S354L	ENSP00000357615:S496L	S	-	2	0	FRK	116370301	0.189000	0.23263	0.059000	0.19551	0.380000	0.30137	2.620000	0.46410	0.314000	0.23086	-0.229000	0.12294	TCA		0.343	FRK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041924.2	NM_002031		19	56	0	0	0	1	0	19	56					A	116263608	G	A	116263608	3	1	392	1	0	0	0	0	1	0	0	0	6048	1294	45	3	34	3	FRK	6	116263608	Missense_Mutation	SNP	G	TCGA-V1-A9Z7-01A-11D-A41K-08	85670124	116263608	54851459	17	19207											
ABCA13	154664	broad.mit.edu	37	chr7	48411971	48411972	+	Frame_Shift_Ins	INS	-	-	T																															tgagctacctcttgagtgcaINStttttcagccaagctaatac																										TCGA-V1-A9Z7-01A-11D-A41K-08	TCGA-V1-A9Z7-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10f30605-2413-49d7-a9e7-042fb7c2c336	87158802-66e8-4c56-9f08-3cb5033e6cb4	g.chr7:48411971_48411972insT	ENST00000435803.1	+	33	11034_11035	c.11010_11011insT	c.(11011-11013)tttfs	p.F3671fs		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	3671					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						TCTTGAGTGCATTTTTCAGCCA	0.426																																						ENST00000435803.1																			0				breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						c.(11008-11013)gcttttfs		ATP-binding cassette, sub-family A (ABC1), member 13																																				SO:0001589	frameshift_variant	154664				transport	integral to membrane	ATP binding|ATPase activity	g.chr7:48411971_48411972insT	AY204751	CCDS47584.1	7p12.3	2012-03-14			ENSG00000179869	ENSG00000179869		"ATP binding cassette transporters / subfamily A"	14638	protein-coding gene	gene with protein product		607807				12697998	Standard	NM_152701		Approved	FLJ33876, FLJ33951	uc003toq.2	Q86UQ4	OTTHUMG00000155840	ENST00000435803.1:c.11015dupT	7.37:g.48411976_48411976dupT	ENSP00000411096:p.Phe3671fs						p.AF3670fs	NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN			33	11034_11035	+			3670					K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Frame_Shift_Ins	INS	ENST00000435803.1	37	c.11010_11011insT	CCDS47584.1																																																																																				0.426	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341964.2	NM_152701		18	182						18	182	---	---	---	---	T	48411972	-	T	48411971	7	5	392	1	0	1	1	0	0	0	0	0	31	204	8	0	10969	0	ABCA13	7	48411971	Frame_Shift_Ins	INS	-	TCGA-V1-A9Z7-01A-11D-A41K-08		48411971	110726692	18	19208											
ANK1	286	broad.mit.edu	37	chr8	41615618	41615618	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aagctttgtccaagttacctGatcttgctgctctcagaaag	10	13	8	10	0	2	2	1	1	2	1	4	2	3	2	2	0	4	4	2	0	4	3			TCGA-V1-A9Z7-01A-11D-A41K-08	TCGA-V1-A9Z7-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10f30605-2413-49d7-a9e7-042fb7c2c336	87158802-66e8-4c56-9f08-3cb5033e6cb4	g.chr8:41615618G>A	ENST00000347528.4	-	2	148	c.65C>T	c.(64-66)tCa>tTa	p.S22L	ANK1_ENST00000396942.1_Missense_Mutation_p.S22L|ANK1_ENST00000289734.7_Missense_Mutation_p.S22L|ANK1_ENST00000352337.4_Missense_Mutation_p.S22L|ANK1_ENST00000396945.1_Missense_Mutation_p.S22L|ANK1_ENST00000265709.8_Missense_Mutation_p.S55L|ANK1_ENST00000379758.2_Missense_Mutation_p.S22L	NM_020475.2|NM_020476.2|NM_020477.2	NP_065208.2|NP_065209.2|NP_065210.2	P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	22	89 kDa domain.				axon guidance (GO:0007411)|cytoskeleton organization (GO:0007010)|ER to Golgi vesicle-mediated transport (GO:0006888)|erythrocyte development (GO:0048821)|exocytosis (GO:0006887)|maintenance of epithelial cell apical/basal polarity (GO:0045199)|monovalent inorganic cation transport (GO:0015672)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of organelle organization (GO:0010638)|protein targeting to plasma membrane (GO:0072661)|signal transduction (GO:0007165)	axolemma (GO:0030673)|basolateral plasma membrane (GO:0016323)|cortical cytoskeleton (GO:0030863)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|M band (GO:0031430)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|cytoskeletal adaptor activity (GO:0008093)|enzyme binding (GO:0019899)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)	p.S22L(1)|p.S55L(1)		breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			CAAGTTACCTGATCTTGCTGC	0.507																																						ENST00000396942.1																			2	Substitution - Missense(2)	p.S22L(1)|p.S55L(1)	urinary_tract(2)	breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122						c.(64-66)tCa>tTa		ankyrin 1, erythrocytic							290	276	281					8																	41615618		2203	4300	6503	SO:0001583	missense	286				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton	g.chr8:41615618G>A	M28880	CCDS6119.1, CCDS6121.1, CCDS6122.1, CCDS47849.1, CCDS55227.1	8p11.21	2013-01-10			ENSG00000029534	ENSG00000029534		"Ankyrin repeat domain containing"	492	protein-coding gene	gene with protein product		612641		ANK		1689849	Standard	NM_001142445		Approved	SPH1	uc003xom.3	P16157	OTTHUMG00000150281	ENST00000347528.4:c.65C>T	8.37:g.41615618G>A	ENSP00000339620:p.Ser22Leu					ANK1_ENST00000347528.4_Missense_Mutation_p.S22L|ANK1_ENST00000265709.8_Missense_Mutation_p.S55L|ANK1_ENST00000289734.7_Missense_Mutation_p.S22L|ANK1_ENST00000379758.2_Missense_Mutation_p.S22L|ANK1_ENST00000352337.4_Missense_Mutation_p.S22L|ANK1_ENST00000396945.1_Missense_Mutation_p.S22L	p.S22L			P16157	ANK1_HUMAN	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)		2	148	-	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	22			89 kDa domain.		A0PJN8|A6NJ23|E5RFL7|O43400|Q13768|Q53ER1|Q59FP2|Q8N604|Q99407	Missense_Mutation	SNP	ENST00000347528.4	37	c.65C>T	CCDS6119.1	.	.	.	.	.	.	.	.	.	.	G	33	5.232211	0.95207	.	.	ENSG00000029534	ENST00000347528;ENST00000289734;ENST00000379758;ENST00000396945;ENST00000396942;ENST00000352337;ENST00000265709;ENST00000358820	T;T;T;T;T;T;T	0.64803	-0.12;-0.12;-0.12;-0.12;-0.12;-0.12;-0.12	5.54	5.54	0.83059	Ankyrin repeat-containing domain (2);	0.068643	0.64402	D	0.000012	T	0.74068	0.3668	L	0.46670	1.46	0.58432	D	0.999999	P;P;B;D;P	0.65815	0.904;0.913;0.36;0.995;0.951	P;P;B;D;P	0.63488	0.767;0.713;0.128;0.915;0.767	T	0.74538	-0.3632	10	0.62326	D	0.03	.	19.8467	0.96710	0.0:0.0:1.0:0.0	.	55;22;22;22;22	P16157-21;P16157-4;P16157;P16157-5;P16157-3	.;.;ANK1_HUMAN;.;.	L	22;22;22;22;22;22;55;22	ENSP00000339620:S22L;ENSP00000289734:S22L;ENSP00000369082:S22L;ENSP00000380149:S22L;ENSP00000380147:S22L;ENSP00000309131:S22L;ENSP00000265709:S55L	ENSP00000265709:S55L	S	-	2	0	ANK1	41734775	1.000000	0.71417	0.957000	0.39632	0.996000	0.88848	9.050000	0.93843	2.769000	0.95229	0.563000	0.77884	TCA		0.507	ANK1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317297.1	NM_020475		25	807	0	0	0	1	0	25	807					A	41615618	G	A	41615618	3	1	392	1	0	0	0	0	1	0	0	0	620	1294	45	3	6098	3	ANK1	8	41615618	Missense_Mutation	SNP	G	TCGA-V1-A9Z7-01A-11D-A41K-08		41615618	104748404	19	19209											
COL27A1	85301	broad.mit.edu	37	chr9	116931620	116931620	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gccctggtattggccccggcGcaattcctgtcctccagccc	4	9	10	18	2	0	0	0	0	0	0	3	0	3	0	7	3	1	2	7	3	2	3			TCGA-V1-A9Z7-01A-11D-A41K-08	TCGA-V1-A9Z7-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10f30605-2413-49d7-a9e7-042fb7c2c336	87158802-66e8-4c56-9f08-3cb5033e6cb4	g.chr9:116931620G>A	ENST00000356083.3	+	3	2176	c.1785G>A	c.(1783-1785)gcG>gcA	p.A595A		NM_032888.2	NP_116277.2	Q8IZC6	CORA1_HUMAN	collagen, type XXVII, alpha 1	595	Pro-rich.				extracellular matrix organization (GO:0030198)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|fibrillar collagen trimer (GO:0005583)	extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)			central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						TGGCCCCGGCGCAATTCCTGT	0.657																																						ENST00000356083.3																			0				central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						c.(1783-1785)gcG>gcA		collagen, type XXVII, alpha 1							55	65	61					9																	116931620		2203	4300	6503	SO:0001819	synonymous_variant	85301				cell adhesion		extracellular matrix structural constituent	g.chr9:116931620G>A	AB058773	CCDS6802.1	9q33.1	2013-01-16			ENSG00000196739	ENSG00000196739		"Collagens"	22986	protein-coding gene	gene with protein product		608461				12766169	Standard	NM_032888		Approved	KIAA1870, MGC11337, FLJ11895	uc011lxl.2	Q8IZC6	OTTHUMG00000020537	ENST00000356083.3:c.1785G>A	9.37:g.116931620G>A							p.A595A	NM_032888.2	NP_116277.2	Q8IZC6	CORA1_HUMAN			3	2176	+			595			Pro-rich.		Q66K43|Q96JF7	Silent	SNP	ENST00000356083.3	37	c.1785G>A	CCDS6802.1																																																																																				0.657	COL27A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053763.1	NM_032888		23	52	0	0	0	1	0	23	52					A	116931620	G	A	116931620	2	1	392	1	0	0	0	0	0	0	0	1	3685	1074	38	1		1	COL27A1	9	116931620	Silent	SNP	G	TCGA-V1-A9Z7-01A-11D-A41K-08		116931620	24281811	20	19210											
C9orf98	158067	broad.mit.edu	37	chr9	135730299	135730299	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaatcagctggacgagcagcGcgctgggaactgtctgaagg	10	6	16	9	3	2	1	1	1	1	0	2	5	2	3	0	3	4	3	0	3	3	0	rs547319863	byFrequency	TCGA-V1-A9Z7-01A-11D-A41K-08	TCGA-V1-A9Z7-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10f30605-2413-49d7-a9e7-042fb7c2c336	87158802-66e8-4c56-9f08-3cb5033e6cb4	g.chr9:135730299G>A	ENST00000298545.3	-	5	868	c.347C>T	c.(346-348)gCg>gTg	p.A116V	AK8_ENST00000477396.1_5'UTR|RNU6-357P_ENST00000515914.1_RNA	NM_152572.2	NP_689785.1	Q96MA6	KAD8_HUMAN	adenylate kinase 8	116	Adenylate kinase 1.				nucleoside diphosphate phosphorylation (GO:0006165)|nucleoside triphosphate biosynthetic process (GO:0009142)|ventricular system development (GO:0021591)	cytoplasm (GO:0005737)	adenylate kinase activity (GO:0004017)|ATP binding (GO:0005524)|cytidylate kinase activity (GO:0004127)|nucleoside diphosphate kinase activity (GO:0004550)			NS(1)|kidney(2)|large_intestine(4)|lung(11)|pancreas(2)|prostate(1)|urinary_tract(2)	23						GACGAGCAGCGCGCTGGGAAC	0.547													G|||	2	0.000399361	0	0.0014	5008	,	,		20550	0.001		0	False		,,,				2504	0					ENST00000298545.3																			0				NS(1)|kidney(2)|large_intestine(4)|lung(11)|pancreas(2)|prostate(1)|urinary_tract(2)	23						c.(346-348)gCg>gTg		adenylate kinase 8							123	98	106					9																	135730299		2203	4300	6503	SO:0001583	missense	158067					cytosol	adenylate kinase activity|ATP binding|cytidylate kinase activity	g.chr9:135730299G>A	AK093446	CCDS6954.1	9q34.13	2013-04-29	2010-12-07	2010-12-07	ENSG00000165695	ENSG00000165695	2.7.4.3	"Adenylate kinases"	26526	protein-coding gene	gene with protein product		615365	"chromosome 9 open reading frame 98"	C9orf98		21080915	Standard	NM_152572		Approved	FLJ32704	uc004cbu.1	Q96MA6	OTTHUMG00000021009	ENST00000298545.3:c.347C>T	9.37:g.135730299G>A	ENSP00000298545:p.Ala116Val					AK8_ENST00000477396.1_5'UTR	p.A116V	NM_152572.2	NP_689785.1	Q96MA6	KAD8_HUMAN			5	868	-			116					A8K821|Q8N9W9	Missense_Mutation	SNP	ENST00000298545.3	37	c.347C>T	CCDS6954.1	.	.	.	.	.	.	.	.	.	.	G	6.735	0.504413	0.12822	.	.	ENSG00000165695	ENST00000298545	T	0.76968	-1.06	3.49	-6.99	0.01605	.	1.992100	0.03116	N	0.163073	T	0.60958	0.2309	L	0.29908	0.895	0.09310	N	1	B	0.32350	0.366	B	0.31495	0.131	T	0.54443	-0.8293	10	0.62326	D	0.03	-0.0246	2.198	0.03916	0.1502:0.1826:0.4415:0.2256	.	116	Q96MA6	KAD8_HUMAN	V	116	ENSP00000298545:A116V	ENSP00000298545:A116V	A	-	2	0	AK8	134720120	0.000000	0.05858	0.000000	0.03702	0.019000	0.09904	-1.120000	0.03273	-2.493000	0.00515	-0.339000	0.08088	GCG		0.547	AK8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055413.1	NM_152572		13	28	0	0	0	1	0	13	28					A	135730299	G	A	135730299	3	1	392	1	0	0	0	0	1	0	0	0	2509	1087	38	1	1128	1	C9orf98	9	135730299	Missense_Mutation	SNP	G	TCGA-V1-A9Z7-01A-11D-A41K-08	18798679	135730299	5483132	21	19211											
FUT7	2529	broad.mit.edu	37	chr9	139925558	139925558	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtgggcaccaggcagctggcGcacagtggccgtccattggc	6	6	16	13	2	0	0	0	0	0	0	1	0	1	0	3	5	1	4	3	5	0	1			TCGA-V1-A9Z7-01A-11D-A41K-08	TCGA-V1-A9Z7-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10f30605-2413-49d7-a9e7-042fb7c2c336	87158802-66e8-4c56-9f08-3cb5033e6cb4	g.chr9:139925558G>A	ENST00000314412.6	-	2	1651	c.633C>T	c.(631-633)tgC>tgT	p.C211C	ABCA2_ENST00000341511.6_5'Flank|C9orf139_ENST00000314330.2_Intron|ABCA2_ENST00000265662.5_5'Flank|ABCA2_ENST00000371605.3_5'Flank|ABCA2_ENST00000492260.1_5'Flank	NM_004479.3	NP_004470.1	Q11130	FUT7_HUMAN	fucosyltransferase 7 (alpha (1,3) fucosyltransferase)	211					CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation (GO:0002361)|fucosylation (GO:0036065)|L-fucose catabolic process (GO:0042355)|leukocyte migration involved in immune response (GO:0002522)|protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	alpha-(1->3)-fucosyltransferase activity (GO:0046920)|fucosyltransferase activity (GO:0008417)			NS(1)|endometrium(1)|lung(4)|ovary(1)|skin(1)	8	all_cancers(76;0.0893)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.96e-05)|Epithelial(140;0.000486)		GGCAGCTGGCGCACAGTGGCC	0.627																																						ENST00000314412.6																			0				NS(1)|endometrium(1)|lung(4)|ovary(1)|skin(1)	8						c.(631-633)tgC>tgT		fucosyltransferase 7 (alpha (1,3) fucosyltransferase)																																				SO:0001819	synonymous_variant	2529				L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to membrane	alpha(1,3)-fucosyltransferase activity	g.chr9:139925558G>A	X78031, AB012668	CCDS7022.1	9q34.3	2013-02-26			ENSG00000180549	ENSG00000180549		"Fucosyltransferases"	4018	protein-coding gene	gene with protein product		602030				8207002, 8182079	Standard	NM_004479		Approved		uc004ckq.2	Q11130	OTTHUMG00000020964	ENST00000314412.6:c.633C>T	9.37:g.139925558G>A						C9orf139_ENST00000314330.2_Intron	p.C211C	NM_004479.3	NP_004470.1	Q11130	FUT7_HUMAN	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.96e-05)|Epithelial(140;0.000486)	2	1651	-	all_cancers(76;0.0893)	Myeloproliferative disorder(178;0.0511)	211					B2R7U7|Q6DK54	Silent	SNP	ENST00000314412.6	37	c.633C>T	CCDS7022.1																																																																																				0.627	FUT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055220.1	NM_004479		15	146	0	0	0	1	0	15	146					A	139925558	G	A	139925558	2	1	392	1	0	0	0	0	0	0	0	1	6109	1079	38	1		1	FUT7	9	139925558	Silent	SNP	G	TCGA-V1-A9Z7-01A-11D-A41K-08	4195259	139925558	1287873	22	19212											
LGI1	9211	broad.mit.edu	37	chr10	95518093	95518093	+	Silent	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gccagatccattccacgcacCgttcctcctgatgttatctc	7	12	6	16	2	1	2	0	1	1	1	6	2	5	2	6	0	0	3	6	0	1	3	rs556541211		TCGA-V1-A9Z7-01A-11D-A41K-08	TCGA-V1-A9Z7-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10f30605-2413-49d7-a9e7-042fb7c2c336	87158802-66e8-4c56-9f08-3cb5033e6cb4	g.chr10:95518093C>G	ENST00000371418.4	+	1	452	c.192C>G	c.(190-192)acC>acG	p.T64T	LGI1_ENST00000542308.1_Silent_p.T64T|LGI1_ENST00000371413.3_Silent_p.T64T|LGI1_ENST00000478763.1_3'UTR	NM_005097.2	NP_005088.1	O95970	LGI1_HUMAN	leucine-rich, glioma inactivated 1	64	LRRNT.				axon guidance (GO:0007411)|cell proliferation (GO:0008283)|nervous system development (GO:0007399)|neuron projection development (GO:0031175)|positive regulation of cell growth (GO:0030307)|positive regulation of synaptic transmission (GO:0050806)|protein homooligomerization (GO:0051260)	cell junction (GO:0030054)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|synapse (GO:0045202)	receptor binding (GO:0005102)			central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(18)|ovary(2)|skin(1)	29		Colorectal(252;0.124)				TTCCACGCACCGTTCCTCCTG	0.438																																						ENST00000371418.4																			0				central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(18)|ovary(2)|skin(1)	29						c.(190-192)acC>acG		leucine-rich, glioma inactivated 1							159	153	155					10																	95518093		2203	4300	6503	SO:0001819	synonymous_variant	9211				axon guidance|cell proliferation|positive regulation of cell growth|positive regulation of synaptic transmission	cell junction|extracellular space|synapse	receptor binding	g.chr10:95518093C>G	AF055636	CCDS7431.1	10q24	2008-08-01	2002-06-05		ENSG00000108231	ENSG00000108231			6572	protein-coding gene	gene with protein product		604619	"epilepsy, partial"	EPT		9879993, 11978770, 15079011	Standard	NM_005097		Approved	IB1099, ETL1, EPITEMPIN	uc001kjc.4	O95970	OTTHUMG00000018777	ENST00000371418.4:c.192C>G	10.37:g.95518093C>G						LGI1_ENST00000371413.3_Silent_p.T64T|LGI1_ENST00000478763.1_3'UTR|LGI1_ENST00000542308.1_Silent_p.T64T	p.T64T	NM_005097.2	NP_005088.1	O95970	LGI1_HUMAN			1	452	+		Colorectal(252;0.124)	64			LRRNT.		A8K0Z1|B4E1S0|Q5W001|Q5W002|Q8NI23|Q96LF5	Silent	SNP	ENST00000371418.4	37	c.192C>G	CCDS7431.1																																																																																				0.438	LGI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049445.1	NM_005097		7	78	0	0	0	1	0	7	78					G	95518093	C	G	95518093	2	3	392	1	0	0	0	0	0	0	0	1	8751	639	23	5		5	LGI1	10	95518093	Silent	SNP	C	TCGA-V1-A9Z7-01A-11D-A41K-08		95518093	40016654	23	19213											
NPAS4	266743	broad.mit.edu	37	chr11	66190206	66190206	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aggcgccagagtgcaggcaaCaaactcgtgcttattcgagg	11	7	13	10	3	0	1	0	0	0	1	2	2	0	1	1	3	4	3	1	3	3	2			TCGA-V1-A9Z7-01A-11D-A41K-08	TCGA-V1-A9Z7-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10f30605-2413-49d7-a9e7-042fb7c2c336	87158802-66e8-4c56-9f08-3cb5033e6cb4	g.chr11:66190206C>A	ENST00000311034.2	+	4	668	c.492C>A	c.(490-492)aaC>aaA	p.N164K		NM_178864.3	NP_849195.2	Q8IUM7	NPAS4_HUMAN	neuronal PAS domain protein 4	164					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|signal transducer activity (GO:0004871)			breast(4)|endometrium(2)|kidney(3)|large_intestine(11)|liver(2)|lung(20)|ovary(1)|prostate(3)|skin(3)	49						GTGCAGGCAACAAACTCGTGC	0.552																																						ENST00000311034.2																			0				breast(4)|endometrium(2)|kidney(3)|large_intestine(11)|liver(2)|lung(20)|ovary(1)|prostate(3)|skin(3)	49						c.(490-492)aaC>aaA		neuronal PAS domain protein 4							117	112	114					11																	66190206		2200	4295	6495	SO:0001583	missense	266743				transcription, DNA-dependent		DNA binding|signal transducer activity	g.chr11:66190206C>A	AB049469	CCDS8138.1	11q13.2	2013-05-21			ENSG00000174576	ENSG00000174576		"Basic helix-loop-helix proteins"	18983	protein-coding gene	gene with protein product		608554				14701734	Standard	NM_178864		Approved	PASD10, NXF, Le-PAS, bHLHe79	uc001ohx.1	Q8IUM7	OTTHUMG00000167045	ENST00000311034.2:c.492C>A	11.37:g.66190206C>A	ENSP00000311196:p.Asn164Lys						p.N164K	NM_178864.3	NP_849195.2	Q8IUM7	NPAS4_HUMAN			4	668	+			164					B7ZL81|Q8N8S5|Q8N9Q9	Missense_Mutation	SNP	ENST00000311034.2	37	c.492C>A	CCDS8138.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.273798	0.80580	.	.	ENSG00000174576	ENST00000311034	T	0.45276	0.9	5.74	5.74	0.90152	.	0.000000	0.64402	D	0.000005	T	0.50531	0.1621	L	0.43152	1.355	0.80722	D	1	D	0.58620	0.983	P	0.56088	0.791	T	0.26573	-1.0099	10	0.24483	T	0.36	-18.8654	17.4135	0.87493	0.0:1.0:0.0:0.0	.	164	Q8IUM7	NPAS4_HUMAN	K	164	ENSP00000311196:N164K	ENSP00000311196:N164K	N	+	3	2	NPAS4	65946782	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	1.563000	0.36364	2.702000	0.92279	0.655000	0.94253	AAC		0.552	NPAS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392634.1	NM_178864		14	34	1	0	1.15088e-07	1	1.24174e-07	14	34					A	66190206	C	A	66190206	3	1	392	1	0	0	0	0	1	0	0	0	10565	477	17	5	506	5	NPAS4	11	66190206	Missense_Mutation	SNP	C	TCGA-V1-A9Z7-01A-11D-A41K-08		66190206	68816310	24	19214											
KIAA1826	84437	broad.mit.edu	37	chr11	105880318	105880318	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtctttctctacctgtaagcGttccttttcaatctgcagct	6	17	6	12	1	4	0	1	0	3	0	6	0	5	0	2	0	4	4	2	0	3	6			TCGA-V1-A9Z7-01A-11D-A41K-08	TCGA-V1-A9Z7-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10f30605-2413-49d7-a9e7-042fb7c2c336	87158802-66e8-4c56-9f08-3cb5033e6cb4	g.chr11:105880318G>A	ENST00000301919.4	-	3	2397	c.982C>T	c.(982-984)Cgc>Tgc	p.R328C	MSANTD4_ENST00000529805.1_5'UTR	NM_032424.1	NP_115800.1	Q8NCY6	MSD4_HUMAN	Myb/SANT-like DNA-binding domain containing 4 with coiled-coils	328						nucleus (GO:0005634)											ACCTGTAAGCGTTCCTTTTCA	0.393																																						ENST00000301919.4																			0											c.(982-984)Cgc>Tgc		Myb/SANT-like DNA-binding domain containing 4 with coiled-coils							118	112	114					11																	105880318		2201	4298	6499	SO:0001583	missense	84437					nucleus		g.chr11:105880318G>A	AB058729	CCDS31663.1	11q22	2012-03-13	2012-03-13	2012-03-13	ENSG00000170903	ENSG00000170903			29383	protein-coding gene	gene with protein product			"KIAA1826"	KIAA1826			Standard	XM_005271697		Approved		uc001piz.3	Q8NCY6	OTTHUMG00000166240	ENST00000301919.4:c.982C>T	11.37:g.105880318G>A	ENSP00000304713:p.Arg328Cys					MSANTD4_ENST00000529805.1_5'UTR	p.R328C	NM_032424.1	NP_115800.1	Q8NCY6	K1826_HUMAN			3	2397	-			328					Q96JK1|Q96JZ3|Q9H2N4	Missense_Mutation	SNP	ENST00000301919.4	37	c.982C>T	CCDS31663.1	.	.	.	.	.	.	.	.	.	.	G	24.1	4.488479	0.84854	.	.	ENSG00000170903	ENST00000301919	.	.	.	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	T	0.46776	0.1410	L	0.27053	0.805	0.80722	D	1	D	0.54397	0.966	B	0.43225	0.412	T	0.53194	-0.8473	9	0.87932	D	0	-15.4684	19.7501	0.96265	0.0:0.0:1.0:0.0	.	328	Q8NCY6	K1826_HUMAN	C	328	.	ENSP00000304713:R328C	R	-	1	0	KIAA1826	105385528	1.000000	0.71417	0.989000	0.46669	0.898000	0.52572	8.666000	0.91149	2.667000	0.90743	0.491000	0.48974	CGC		0.393	MSANTD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388619.1	NM_032424		17	72	0	0	0	1	0	17	72					A	105880318	G	A	105880318	3	1	392	1	0	0	0	0	1	0	0	0	8260	1145	40	1	59	1	KIAA1826	11	105880318	Missense_Mutation	SNP	G	TCGA-V1-A9Z7-01A-11D-A41K-08	39690112	105880318	29126198	25	19215											
NDUFA9	4704	broad.mit.edu	37	chr12	4771727	4771727	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agagaaagtagtgagagatgCatttccggaagccattatcg	14	9	12	6	2	0	3	0	1	0	2	2	6	1	4	2	1	2	2	2	1	4	3			TCGA-V1-A9Z7-01A-11D-A41K-08	TCGA-V1-A9Z7-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10f30605-2413-49d7-a9e7-042fb7c2c336	87158802-66e8-4c56-9f08-3cb5033e6cb4	g.chr12:4771727C>A	ENST00000266544.5	+	6	601	c.581C>A	c.(580-582)gCa>gAa	p.A194E	RP11-500M8.7_ENST00000536588.1_3'UTR	NM_005002.4	NP_004993.1	Q16795	NDUA9_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 9, 39kDa	194					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)|sodium ion transport (GO:0006814)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrial respiratory chain complex I (GO:0005747)|nucleus (GO:0005634)	coenzyme binding (GO:0050662)|NADH dehydrogenase (ubiquinone) activity (GO:0008137)|NADH dehydrogenase activity (GO:0003954)|protein complex binding (GO:0032403)			NS(1)|breast(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	21						GTGAGAGATGCATTTCCGGAA	0.373																																					Colon(75;996 1244 23946 25294 29232)	ENST00000266544.5																			0				NS(1)|breast(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	21						c.(580-582)gCa>gAa		NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 9, 39kDa	NADH(DB00157)						169	158	162					12																	4771727		2203	4300	6503	SO:0001583	missense	4704				mitochondrial electron transport, NADH to ubiquinone|sodium ion transport	mitochondrial matrix|mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity|protein binding	g.chr12:4771727C>A	AF050641	CCDS8532.1	12p13.3	2011-09-14	2002-08-29		ENSG00000139180	ENSG00000139180		"Mitochondrial respiratory chain complex / Complex I", "Short chain dehydrogenase/reductase superfamily / Extended SDR fold"	7693	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 22E, member 1", "complex I 39kDa subunit"	603834	"NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 9 (39kD)"	NDUFS2L		8486360, 19027726	Standard	NM_005002		Approved	SDR22E1, CI-39k	uc001qnc.3	Q16795		ENST00000266544.5:c.581C>A	12.37:g.4771727C>A	ENSP00000266544:p.Ala194Glu						p.A194E	NM_005002.4	NP_004993.1	Q16795	NDUA9_HUMAN			6	601	+			194					Q14076|Q2NKX0	Missense_Mutation	SNP	ENST00000266544.5	37	c.581C>A	CCDS8532.1	.	.	.	.	.	.	.	.	.	.	C	3.732	-0.055359	0.07362	.	.	ENSG00000139180	ENST00000266544	D	0.93906	-3.31	5.15	2.17	0.27698	NAD(P)-binding domain (1);	0.377682	0.31859	N	0.006949	D	0.83764	0.5325	N	0.17594	0.5	0.20196	N	0.999925	B;B	0.06786	0.001;0.001	B;B	0.12156	0.007;0.007	T	0.70561	-0.4838	10	0.33940	T	0.23	-3.7303	4.6927	0.12788	0.149:0.5742:0.0:0.2769	.	194;194	A8K4V2;Q16795	.;NDUA9_HUMAN	E	194	ENSP00000266544:A194E	ENSP00000266544:A194E	A	+	2	0	NDUFA9	4641988	0.237000	0.23815	0.001000	0.08648	0.669000	0.39330	0.864000	0.27926	0.203000	0.20529	0.555000	0.69702	GCA		0.373	NDUFA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398900.2	NM_005002		4	102	1	0	0.014758	1	0.0151269	4	102					A	4771727	C	A	4771727	3	1	392	1	0	0	0	0	1	0	0	0	10272	710	25	5	603	5	NDUFA9	12	4771727	Missense_Mutation	SNP	C	TCGA-V1-A9Z7-01A-11D-A41K-08		4771727	129080168	26	19216											
OR6S1	341799	broad.mit.edu	37	chr14	21109704	21109704	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cgagtatcagcccttaccacCcccacaatcaacacattgcc	12	7	4	18	1	2	0	2	0	0	0	2	1	2	0	5	0	4	1	5	0	4	3			TCGA-V1-A9Z7-01A-11D-A41K-08	TCGA-V1-A9Z7-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10f30605-2413-49d7-a9e7-042fb7c2c336	87158802-66e8-4c56-9f08-3cb5033e6cb4	g.chr14:21109704C>G	ENST00000320704.3	-	1	146	c.147G>C	c.(145-147)ggG>ggC	p.G49G		NM_001001968.1	NP_001001968.1	Q8NH40	OR6S1_HUMAN	olfactory receptor, family 6, subfamily S, member 1	49						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			kidney(1)|large_intestine(3)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23	all_cancers(95;0.00304)		Epithelial(56;1.23e-06)|all cancers(55;1.01e-05)	GBM - Glioblastoma multiforme(265;0.0135)		CCCTTACCACCCCCACAATCA	0.463																																						ENST00000320704.3																			0				kidney(1)|large_intestine(3)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23						c.(145-147)ggG>ggC		olfactory receptor, family 6, subfamily S, member 1							98	94	95					14																	21109704		2203	4300	6503	SO:0001819	synonymous_variant	341799				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:21109704C>G	AL163636	CCDS32038.1	14q11.2	2013-09-24			ENSG00000181803	ENSG00000181803		"GPCR / Class A : Olfactory receptors"	15363	protein-coding gene	gene with protein product							Standard	NM_001001968		Approved	OR6S1Q	uc001vxv.1	Q8NH40	OTTHUMG00000171010	ENST00000320704.3:c.147G>C	14.37:g.21109704C>G							p.G49G	NM_001001968.1	NP_001001968.1	Q8NH40	OR6S1_HUMAN	Epithelial(56;1.23e-06)|all cancers(55;1.01e-05)	GBM - Glioblastoma multiforme(265;0.0135)	1	146	-	all_cancers(95;0.00304)		49					Q6IFJ9	Silent	SNP	ENST00000320704.3	37	c.147G>C	CCDS32038.1																																																																																				0.463	OR6S1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411227.1			24	64	0	0	0	1	0	24	64					G	21109704	C	G	21109704	2	3	392	1	0	0	0	0	0	0	0	1	11209	610	22	5		5	OR6S1	14	21109704	Silent	SNP	C	TCGA-V1-A9Z7-01A-11D-A41K-08		21109704	86239836	27	19217											
C14orf43	91748	broad.mit.edu	37	chr14	74186068	74186069	+	Frame_Shift_Ins	INS	-	-	T																															ggtcttactgaatgtctctgINStttttttcttcttctctgaa																								rs111577434		TCGA-V1-A9Z7-01A-11D-A41K-08	TCGA-V1-A9Z7-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10f30605-2413-49d7-a9e7-042fb7c2c336	87158802-66e8-4c56-9f08-3cb5033e6cb4	g.chr14:74186068_74186069insT	ENST00000286523.5	-	12	3855_3856	c.3073_3074insA	c.(3073-3075)acafs	p.T1025fs	ELMSAN1_ENST00000394071.2_Frame_Shift_Ins_p.T1025fs	NM_194278.3	NP_919254.2	Q6PJG2	EMSA1_HUMAN	ELM2 and Myb/SANT-like domain containing 1	1025					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)										GAATGTCTCTGTTTTTTTCTTC	0.569																																						ENST00000286523.5																			0											c.(3073-3075)agafs		ELM2 and Myb/SANT-like domain containing 1																																				SO:0001589	frameshift_variant	91748							g.chr14:74186068_74186069insT	BF971739	CCDS9819.1	14q24.3	2012-09-25	2012-09-25	2012-09-25	ENSG00000156030	ENSG00000156030			19853	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 117", "chromosome 14 open reading frame 43"	C14orf117, C14orf43			Standard	NM_194278		Approved	LSR68	uc001xou.3	Q6PJG2	OTTHUMG00000150359	ENST00000286523.5:c.3074dupA	14.37:g.74186075_74186075dupT	ENSP00000286523:p.Thr1025fs					ELMSAN1_ENST00000394071.2_Frame_Shift_Ins_p.R1025fs	p.R1025fs	NM_194278.3	NP_919254.2					12	3855_3856	-								Q6PK13|Q6PK59|Q6ZS23	Frame_Shift_Ins	INS	ENST00000286523.5	37	c.3073_3074insA	CCDS9819.1																																																																																				0.569	ELMSAN1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317793.1	NM_194278		8	21						8	21	---	---	---	---	T	74186069	-	T	74186068	7	5	392	1	0	1	1	0	0	0	0	0	1774	1377	48	0	67	0	C14orf43	14	74186068	Frame_Shift_Ins	INS	-	TCGA-V1-A9Z7-01A-11D-A41K-08	53076364	74186068	33163472	28	19218											
SEMA7A	8482	broad.mit.edu	37	chr15	74703250	74703250	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggcgccatgagtaggtggcGtggcgggattccatggggca	6	8	19	8	3	0	1	0	1	0	0	1	2	1	2	2	7	0	2	2	7	1	2	rs199507109		TCGA-V1-A9Z7-01A-11D-A41K-08	TCGA-V1-A9Z7-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10f30605-2413-49d7-a9e7-042fb7c2c336	87158802-66e8-4c56-9f08-3cb5033e6cb4	g.chr15:74703250G>A	ENST00000261918.4	-	14	2264	c.1716C>T	c.(1714-1716)caC>caT	p.H572H	SEMA7A_ENST00000542748.1_Silent_p.H407H|SEMA7A_ENST00000543145.2_Silent_p.H558H	NM_003612.3	NP_003603.1	O75326	SEM7A_HUMAN	semaphorin 7A, GPI membrane anchor (John Milton Hagen blood group)	572	Ig-like C2-type.				axon extension (GO:0048675)|axon guidance (GO:0007411)|immune response (GO:0006955)|inflammatory response (GO:0006954)|integrin-mediated signaling pathway (GO:0007229)|olfactory lobe development (GO:0021988)|osteoblast differentiation (GO:0001649)|positive regulation of axon extension (GO:0045773)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of macrophage cytokine production (GO:0060907)|positive regulation of protein phosphorylation (GO:0001934)|regulation of inflammatory response (GO:0050727)	anchored component of membrane (GO:0031225)|external side of plasma membrane (GO:0009897)|membrane (GO:0016020)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			breast(3)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(3)|lung(12)|upper_aerodigestive_tract(1)	30						AGTAGGTGGCGTGGCGGGATT	0.622													G|||	1	0.000199681	8e-04	0	5008	,	,		19090	0		0	False		,,,				2504	0					ENST00000261918.4																			0				breast(3)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(3)|lung(12)|upper_aerodigestive_tract(1)	30						c.(1714-1716)caC>caT		semaphorin 7A, GPI membrane anchor (John Milton Hagen blood group)		G	,,	1,4393	2.1+/-5.4	0,1,2196	102	103	103		1674,1221,1716	-3.7	1	15		103	0,8592		0,0,4296	no	coding-synonymous,coding-synonymous,coding-synonymous	SEMA7A	NM_001146029.1,NM_001146030.1,NM_003612.3	,,	0,1,6492	AA,AG,GG		0.0,0.0228,0.0077	,,	558/653,407/502,572/667	74703250	1,12985	2197	4296	6493	SO:0001819	synonymous_variant	8482				axon guidance|immune response|inflammatory response|integrin-mediated signaling pathway|positive regulation of axon extension|positive regulation of ERK1 and ERK2 cascade|positive regulation of macrophage cytokine production|regulation of inflammatory response	anchored to membrane|external side of plasma membrane	receptor activity	g.chr15:74703250G>A	AF069493	CCDS10262.1, CCDS53958.1, CCDS53959.1	15q22.3-q23	2014-07-18	2006-02-23		ENSG00000138623	ENSG00000138623		"Semaphorins", "CD molecules", "Blood group antigens", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	10741	protein-coding gene	gene with protein product	"John Milton Hagen blood group", "H-Sema K1"	607961	"sema domain, immunoglobulin domain (Ig), and GPI membrane anchor, (semaphorin) 7A", "sema domain, immunoglobulin domain (Ig), and GPI membrane anchor, (semaphorin) 7A (JMH blood group)"	SEMAL		9721204	Standard	NM_003612		Approved	H-Sema-L, CD108	uc002axv.3	O75326	OTTHUMG00000139000	ENST00000261918.4:c.1716C>T	15.37:g.74703250G>A						SEMA7A_ENST00000543145.2_Silent_p.H558H|SEMA7A_ENST00000542748.1_Silent_p.H407H	p.H572H	NM_003612.3	NP_003603.1	O75326	SEM7A_HUMAN			14	2264	-			572			Ig-like C2-type.		B4DDP7|F5H1S0|Q1XE81|Q1XE82|Q1XE83|Q1XE84|Q3MIY5	Silent	SNP	ENST00000261918.4	37	c.1716C>T	CCDS10262.1																																																																																				0.622	SEMA7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000272904.3	NM_003612		16	60	0	0	0	1	0	16	60					A	74703250	G	A	74703250	2	1	392	1	0	0	0	0	0	0	0	1	14043	1136	40	1		1	SEMA7A	15	74703250	Silent	SNP	G	TCGA-V1-A9Z7-01A-11D-A41K-08		74703250	27828142	29	19219											
IREB2	3658	broad.mit.edu	37	chr15	78786337	78786337	+	Frame_Shift_Del	DEL	T	T	-																															cacttttgcaaatatcaagcTttttaataagtttattggaa																										TCGA-V1-A9Z7-01A-11D-A41K-08	TCGA-V1-A9Z7-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10f30605-2413-49d7-a9e7-042fb7c2c336	87158802-66e8-4c56-9f08-3cb5033e6cb4	g.chr15:78786337delT	ENST00000258886.8	+	19	2560	c.2411delT	c.(2410-2412)cttfs	p.L804fs		NM_004136.2	NP_004127	P48200	IREB2_HUMAN	iron-responsive element binding protein 2	804					aging (GO:0007568)|cellular iron ion homeostasis (GO:0006879)|cellular response to hypoxia (GO:0071456)|erythrocyte homeostasis (GO:0034101)|intestinal absorption (GO:0050892)|iron ion transport (GO:0006826)|osteoclast differentiation (GO:0030316)|post-embryonic development (GO:0009791)|protoporphyrinogen IX biosynthetic process (GO:0006782)|response to iron(II) ion (GO:0010040)|response to retinoic acid (GO:0032526)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)	4 iron, 4 sulfur cluster binding (GO:0051539)|iron-responsive element binding (GO:0030350)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)|translation repressor activity (GO:0030371)			central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	41				UCEC - Uterine corpus endometrioid carcinoma (272;0.232)		AATATCAAGCTTTTTAATAAG	0.363																																					NSCLC(200;764 2208 35157 49871 50830)	ENST00000258886.8																			0				central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	41						c.(2410-2412)ctfs		iron-responsive element binding protein 2							72	76	74					15																	78786337		2196	4293	6489	SO:0001589	frameshift_variant	3658						4 iron, 4 sulfur cluster binding|metal ion binding|protein binding	g.chr15:78786337delT	M58511	CCDS10302.1	15q25.1	2013-09-20			ENSG00000136381	ENSG00000136381			6115	protein-coding gene	gene with protein product		147582				2172968	Standard	NM_004136		Approved	IRP2	uc002bdr.2	P48200	OTTHUMG00000143861	ENST00000258886.8:c.2411delT	15.37:g.78786337delT	ENSP00000258886:p.Leu804fs						p.L804fs	NM_004136.2	NP_004127.1	P48200	IREB2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (272;0.232)	19	2560	+			804					A8KAC7|E1CJT9|H0YKU0|Q13095|Q1HE21|Q59FQ7|Q8WVK6|Q9UF17	Frame_Shift_Del	DEL	ENST00000258886.8	37	c.2411delT	CCDS10302.1																																																																																				0.363	IREB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000290109.3	NM_004136		25	55						25	55	---	---	---	---	-	78786337	T	-	78786337	7	5	392	1	0	1	0	1	0	0	0	0	7826	1609	56	0	2485	0	IREB2	15	78786337	Frame_Shift_Del	DEL	T	TCGA-V1-A9Z7-01A-11D-A41K-08	4083087	78786337	23745055	30	19220											
WDR93	56964	broad.mit.edu	37	chr15	90258216	90258216	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggtttcccaatgcaggagccGgagatatttggctggatgtg	8	11	15	7	1	0	1	0	0	0	1	1	4	1	3	2	5	2	3	2	5	2	3	rs376704792		TCGA-V1-A9Z7-01A-11D-A41K-08	TCGA-V1-A9Z7-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10f30605-2413-49d7-a9e7-042fb7c2c336	87158802-66e8-4c56-9f08-3cb5033e6cb4	g.chr15:90258216G>A	ENST00000268130.7	+	6	747	c.646G>A	c.(646-648)Gga>Aga	p.G216R	WDR93_ENST00000560294.1_Missense_Mutation_p.G216R|RNU6-132P_ENST00000383863.1_RNA	NM_020212.1	NP_064597.1	Q6P2C0	WDR93_HUMAN	WD repeat domain 93	216					electron transport chain (GO:0022900)		oxidoreductase activity, acting on NAD(P)H (GO:0016651)			NS(1)|breast(3)|endometrium(2)|kidney(4)|large_intestine(5)|liver(2)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	33	Lung NSC(78;0.0237)|all_lung(78;0.0478)		KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|BRCA - Breast invasive adenocarcinoma(143;0.128)			TGCAGGAGCCGGAGATATTTG	0.453																																						ENST00000268130.7																			0				NS(1)|breast(3)|endometrium(2)|kidney(4)|large_intestine(5)|liver(2)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	33						c.(646-648)Gga>Aga		WD repeat domain 93		G	ARG/GLY	0,4400		0,0,2200	65	61	62		646	4.5	1	15		62	1,8597	1.2+/-3.3	0,1,4298	no	missense	WDR93	NM_020212.1	125	0,1,6498	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	216/687	90258216	1,12997	2200	4299	6499	SO:0001583	missense	56964				electron transport chain	mitochondrial inner membrane	oxidoreductase activity, acting on NADH or NADPH	g.chr15:90258216G>A		CCDS32326.1, CCDS66862.1, CCDS73779.1	15q26.1	2012-11-02						"WD repeat domain containing"	26924	protein-coding gene	gene with protein product							Standard	NM_020212		Approved		uc002boj.3	Q6P2C0		ENST00000268130.7:c.646G>A	15.37:g.90258216G>A	ENSP00000268130:p.Gly216Arg					WDR93_ENST00000560294.1_Missense_Mutation_p.G216R	p.G216R	NM_020212.1	NP_064597.1	Q6P2C0	WDR93_HUMAN	KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|BRCA - Breast invasive adenocarcinoma(143;0.128)		6	747	+	Lung NSC(78;0.0237)|all_lung(78;0.0478)		216					Q8N7Y8|Q9NP89	Missense_Mutation	SNP	ENST00000268130.7	37	c.646G>A	CCDS32326.1	.	.	.	.	.	.	.	.	.	.	G	20.1	3.939931	0.73557	0.0	1.16E-4	ENSG00000140527	ENST00000268130	T	0.24151	1.87	5.44	4.53	0.55603	WD40 repeat-like-containing domain (1);	0.065012	0.64402	D	0.000016	T	0.48370	0.1496	M	0.73598	2.24	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.48833	-0.9000	10	0.59425	D	0.04	-12.2058	10.1285	0.42665	0.0926:0.0:0.9074:0.0	.	216;216	Q6P2C0-2;Q6P2C0	.;WDR93_HUMAN	R	216	ENSP00000268130:G216R	ENSP00000268130:G216R	G	+	1	0	WDR93	88059220	0.988000	0.35896	0.964000	0.40570	0.988000	0.76386	3.261000	0.51530	1.294000	0.44707	0.561000	0.74099	GGA		0.453	WDR93-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000416369.1	NM_020212		8	29	0	0	0	1	0	8	29					A	90258216	G	A	90258216	3	1	392	1	0	0	0	0	1	0	0	0	17337	1117	39	2	664	2	WDR93	15	90258216	Missense_Mutation	SNP	G	TCGA-V1-A9Z7-01A-11D-A41K-08	11471879	90258216	12273176	31	19221											
PRSS8	5652	broad.mit.edu	37	chr16	31143854	31143854	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgttgtacaggcagttacAcgtctcacgactgatcagag	11	10	11	9	2	2	2	2	1	1	1	3	4	2	2	0	1	2	4	0	1	2	3			TCGA-V1-A9Z7-01A-11D-A41K-08	TCGA-V1-A9Z7-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10f30605-2413-49d7-a9e7-042fb7c2c336	87158802-66e8-4c56-9f08-3cb5033e6cb4	g.chr16:31143854A>T	ENST00000317508.6	-	5	864	c.601T>A	c.(601-603)Tgt>Agt	p.C201S	PRSS8_ENST00000568261.1_Missense_Mutation_p.C147S|RP11-388M20.2_ENST00000563605.1_RNA	NM_002773.3	NP_002764.1	Q16651	PRSS8_HUMAN	protease, serine, 8	201	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				positive regulation of sodium ion transport (GO:0010765)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|skin(1)|upper_aerodigestive_tract(1)	8						AGGCAGTTACACGTCTCACGA	0.607																																						ENST00000317508.6																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|skin(1)|upper_aerodigestive_tract(1)	8						c.(601-603)Tgt>Agt		protease, serine, 8							106	113	110					16																	31143854		2130	4239	6369	SO:0001583	missense	5652				proteolysis	extracellular space|integral to membrane|plasma membrane	serine-type endopeptidase activity	g.chr16:31143854A>T	U33446	CCDS45469.1	16p11.2	2010-05-07	2007-02-21			ENSG00000052344		"Serine peptidases / Serine peptidases"	9491	protein-coding gene	gene with protein product	"prostasin"	600823				8838796, 7768952	Standard	NM_002773		Approved		uc002ebc.4	Q16651		ENST00000317508.6:c.601T>A	16.37:g.31143854A>T	ENSP00000319730:p.Cys201Ser					PRSS8_ENST00000568261.1_Missense_Mutation_p.C147S	p.C201S	NM_002773.3	NP_002764.1	Q16651	PRSS8_HUMAN			5	864	-			201			Peptidase S1.		B4DWP2|Q9UCA3	Missense_Mutation	SNP	ENST00000317508.6	37	c.601T>A	CCDS45469.1	.	.	.	.	.	.	.	.	.	.	A	18.34	3.602710	0.66445	.	.	ENSG00000052344	ENST00000317508;ENST00000419768	D	0.96967	-4.19	5.43	5.43	0.79202	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.64402	D	0.000005	D	0.98707	0.9566	H	0.95950	3.745	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	D	0.99701	1.1004	10	0.87932	D	0	.	14.4785	0.67564	1.0:0.0:0.0:0.0	.	147;201	B4DWP2;Q16651	.;PRSS8_HUMAN	S	201;119	ENSP00000319730:C201S	ENSP00000319730:C201S	C	-	1	0	PRSS8	31051355	0.988000	0.35896	0.665000	0.29768	0.139000	0.21198	4.566000	0.60843	2.066000	0.61787	0.533000	0.62120	TGT		0.607	PRSS8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433536.1	NM_002773		20	51	0	0	0	1	0	20	51					T	31143854	A	T	31143854	3	4	392	1	0	0	0	0	1	0	0	0	12635	159	6	5	438	5	PRSS8	16	31143854	Missense_Mutation	SNP	A	TCGA-V1-A9Z7-01A-11D-A41K-08		31143854	59210899	32	19222											
SALL1	6299	broad.mit.edu	37	chr16	51175661	51175661	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgccgccgccgccgctgcTgctgctgctgctgctgctgc	0	9	14	18	4	0	0	0	0	0	0	0	0	0	0	4	0	9	9	4	0	0	0	rs139646526	byFrequency	TCGA-V1-A9Z7-01A-11D-A41K-08	TCGA-V1-A9Z7-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10f30605-2413-49d7-a9e7-042fb7c2c336	87158802-66e8-4c56-9f08-3cb5033e6cb4	g.chr16:51175661T>C	ENST00000251020.4	-	2	505	c.472A>G	c.(472-474)Agc>Ggc	p.S158G	SALL1_ENST00000562674.1_5'Flank|SALL1_ENST00000566102.1_Intron|SALL1_ENST00000440970.1_Missense_Mutation_p.S61G|SALL1_ENST00000541611.1_Intron	NM_002968.2	NP_002959.2	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	158	Poly-Ser.				adrenal gland development (GO:0030325)|branching involved in ureteric bud morphogenesis (GO:0001658)|embryonic digestive tract development (GO:0048566)|embryonic digit morphogenesis (GO:0042733)|forelimb morphogenesis (GO:0035136)|gonad development (GO:0008406)|heart development (GO:0007507)|hindlimb morphogenesis (GO:0035137)|histone deacetylation (GO:0016575)|inductive cell-cell signaling (GO:0031129)|kidney development (GO:0001822)|kidney epithelium development (GO:0072073)|limb development (GO:0060173)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|olfactory bulb interneuron differentiation (GO:0021889)|olfactory bulb mitral cell layer development (GO:0061034)|olfactory nerve development (GO:0021553)|outer ear morphogenesis (GO:0042473)|pituitary gland development (GO:0021983)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of neural precursor cell proliferation (GO:2000177)|transcription, DNA-templated (GO:0006351)|ureteric bud development (GO:0001657)|ureteric bud invasion (GO:0072092)|ventricular septum development (GO:0003281)	chromocenter (GO:0010369)|cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			ccgccgctgctgctgctgctg	0.632													t|||	22	0.00439297	0.0113	0.0043	5008	,	,		12583	0.002		0.002	False		,,,				2504	0				GBM(103;1352 1446 1855 4775 8890)	ENST00000440970.1																			0				NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126						c.(181-183)Agc>Ggc		spalt-like transcription factor 1		C	GLY/SER,GLY/SER	15,4347		0,15,2166	22	25	24		472,181	-0.4	0	16	dbSNP_134	24	6,8538		0,6,4266	no	missense,missense	SALL1	NM_002968.2,NM_001127892.1	56,56	0,21,6432	CC,CT,TT		0.0702,0.3439,0.1627	benign,benign	158/1325,61/1228	51175661	21,12885	2181	4272	6453	SO:0001583	missense	6299				adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr16:51175661T>C	X98833	CCDS10747.1, CCDS45483.1	16q12.1	2014-09-17	2013-10-17		ENSG00000103449	ENSG00000103449		"Zinc fingers, C2H2-type"	10524	protein-coding gene	gene with protein product		602218	"sal (Drosophila)-like 1", "sal-like 1 (Drosophila)"	TBS		9425907	Standard	NM_002968		Approved	Hsal1, ZNF794	uc021tie.1	Q9NSC2	OTTHUMG00000133176	ENST00000251020.4:c.472A>G	16.37:g.51175661T>C	ENSP00000251020:p.Ser158Gly					SALL1_ENST00000541611.1_Intron|SALL1_ENST00000251020.4_Missense_Mutation_p.S158G|SALL1_ENST00000566102.1_Intron	p.S61G	NM_001127892.1	NP_001121364.1	Q9NSC2	SALL1_HUMAN	COAD - Colon adenocarcinoma(2;0.24)		2	612	-		all_cancers(37;0.0322)	158					Q99881|Q9NSC3|Q9P1R0	Missense_Mutation	SNP	ENST00000251020.4	37	c.181A>G	CCDS10747.1	.	.	.	.	.	.	.	.	.	.	t	0.001	-4.558861	0.00000	0.003439	7.02E-4	ENSG00000103449	ENST00000251020;ENST00000440970;ENST00000457559	T;T	0.06142	3.35;3.34	0.225	-0.451	0.12214	.	0.955374	0.08430	N	0.947112	T	0.02610	0.0079	N	0.08118	0	0.09310	N	1	B	0.13594	0.008	B	0.12156	0.007	T	0.44390	-0.9331	9	0.16896	T	0.51	.	.	.	.	.	158	Q9NSC2	SALL1_HUMAN	G	158;61;122	ENSP00000251020:S158G;ENSP00000407914:S61G	ENSP00000251020:S158G	S	-	1	0	SALL1	49733162	0.610000	0.26983	0.003000	0.11579	0.002000	0.02628	0.506000	0.22658	-2.764000	0.00368	-2.812000	0.00111	AGC		0.632	SALL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256883.2	NM_002968		4	43	0	0	0	1	0	4	43					C	51175661	T	C	51175661	3	2	392	1	0	0	0	0	1	0	0	0	13810	1580	55	4	3510	4	SALL1	16	51175661	Missense_Mutation	SNP	T	TCGA-V1-A9Z7-01A-11D-A41K-08	20031807	51175661	39179092	33	19223											
TUBG2	27175	broad.mit.edu	37	chr17	40818390	40818390	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acggaagttggccaacttcaTcccgtggggccccgccagca	8	6	12	15	3	1	0	1	0	0	0	2	1	2	1	5	4	2	2	5	4	2	2			TCGA-V1-A9Z7-01A-11D-A41K-08	TCGA-V1-A9Z7-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10f30605-2413-49d7-a9e7-042fb7c2c336	87158802-66e8-4c56-9f08-3cb5033e6cb4	g.chr17:40818390T>G	ENST00000251412.7	+	10	1245	c.1046T>G	c.(1045-1047)aTc>aGc	p.I349S	PLEKHH3_ENST00000456950.2_5'Flank	NM_016437.2	NP_057521.1	Q9NRH3	TBG2_HUMAN	tubulin, gamma 2	349					cytoplasmic microtubule organization (GO:0031122)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)	cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|gamma-tubulin complex (GO:0000930)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|pericentriolar material (GO:0000242)|spindle microtubule (GO:0005876)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)	15		Breast(137;0.00116)		BRCA - Breast invasive adenocarcinoma(366;0.141)		GCCAACTTCATCCCGTGGGGC	0.662																																						ENST00000251412.7																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)	15						c.(1045-1047)aTc>aGc		tubulin, gamma 2							54	55	55					17																	40818390		2203	4300	6503	SO:0001583	missense	27175				G2/M transition of mitotic cell cycle|microtubule-based process|protein polymerization	cytosol	GTP binding|GTPase activity|structural molecule activity	g.chr17:40818390T>G	AF225971	CCDS32658.1	17q21.2	2014-09-04			ENSG00000037042	ENSG00000037042		"Tubulins"	12419	protein-coding gene	gene with protein product		605785					Standard	NM_016437		Approved		uc010wgr.2	Q9NRH3	OTTHUMG00000180640	ENST00000251412.7:c.1046T>G	17.37:g.40818390T>G	ENSP00000251412:p.Ile349Ser						p.I349S	NM_016437.2	NP_057521.1	Q9NRH3	TBG2_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.141)	10	1245	+		Breast(137;0.00116)	349					A6NDI4|Q32NB2	Missense_Mutation	SNP	ENST00000251412.7	37	c.1046T>G	CCDS32658.1	.	.	.	.	.	.	.	.	.	.	T	17.32	3.360288	0.61403	.	.	ENSG00000037042	ENST00000251412	D	0.85171	-1.95	5.85	3.63	0.41609	Tubulin/FtsZ, 2-layer sandwich domain (3);Tubulin/FtsZ, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.92789	0.7707	M	0.93062	3.375	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.91436	0.5170	10	0.87932	D	0	-30.8929	7.8971	0.29712	0.1231:0.0663:0.0:0.8105	.	349	Q9NRH3	TBG2_HUMAN	S	349	ENSP00000251412:I349S	ENSP00000251412:I349S	I	+	2	0	TUBG2	38071916	1.000000	0.71417	1.000000	0.80357	0.513000	0.34164	7.903000	0.87398	0.470000	0.27294	0.533000	0.62120	ATC		0.662	TUBG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452326.1	NM_016437		13	25	0	0	0	1	0	13	25					G	40818390	T	G	40818390	3	3	392	1	0	0	0	0	1	0	0	0	16762	1435	50	5	1084	5	TUBG2	17	40818390	Missense_Mutation	SNP	T	TCGA-V1-A9Z7-01A-11D-A41K-08		40818390	40376820	34	19224											
DPP9	91039	broad.mit.edu	37	chr19	4694806	4694806	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agctcgtcctctccctctgaTtgggggaagggatagaagat	9	10	13	9	1	2	3	0	1	2	2	5	5	3	5	2	3	1	1	2	3	3	2	rs549939671		TCGA-V1-A9Z7-01A-11D-A41K-08	TCGA-V1-A9Z7-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10f30605-2413-49d7-a9e7-042fb7c2c336	87158802-66e8-4c56-9f08-3cb5033e6cb4	g.chr19:4694806T>C	ENST00000598800.1	-	14	1801	c.1296A>G	c.(1294-1296)caA>caG	p.Q432Q	DPP9_ENST00000262960.9_Silent_p.Q461Q|DPP9_ENST00000594671.1_Silent_p.Q432Q|DPP9_ENST00000597849.1_Silent_p.Q461Q			Q86TI2	DPP9_HUMAN	dipeptidyl-peptidase 9	432						cytoplasm (GO:0005737)|membrane (GO:0016020)	aminopeptidase activity (GO:0004177)|identical protein binding (GO:0042802)|serine-type peptidase activity (GO:0008236)			cervix(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00884)		CTCCCTCTGATTGGGGGAAGG	0.532													T|||	1	0.000199681	8e-04	0	5008	,	,		18624	0		0	False		,,,				2504	0					ENST00000262960.9																			0				cervix(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						c.(1381-1383)caA>caG		dipeptidyl-peptidase 9							52	53	53					19																	4694806		1946	4142	6088	SO:0001819	synonymous_variant	91039				proteolysis	cytosol|membrane	aminopeptidase activity|serine-type peptidase activity	g.chr19:4694806T>C	AF452102	CCDS45928.1	19p13.3	2014-06-11	2006-01-12		ENSG00000142002	ENSG00000142002			18648	protein-coding gene	gene with protein product		608258	"dipeptidylpeptidase 9"				Standard	NM_139159		Approved		uc002mba.3	Q86TI2	OTTHUMG00000182040	ENST00000598800.1:c.1296A>G	19.37:g.4694806T>C						DPP9_ENST00000598800.1_Silent_p.Q432Q|DPP9_ENST00000597849.1_Silent_p.Q461Q|DPP9_ENST00000594671.1_Silent_p.Q432Q	p.Q461Q	NM_139159.4	NP_631898.3	Q86TI2	DPP9_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00884)	13	1660	-		Hepatocellular(1079;0.137)	432	L -> F (in Ref. 7; CAD39039).				O75273|O75868|Q1ZZB8|Q6AI37|Q6UAL0|Q6ZMT2|Q6ZNJ5|Q8N2J7|Q8N3F5|Q8WXD8|Q96NT8|Q9BVR3	Silent	SNP	ENST00000598800.1	37	c.1383A>G																																																																																					0.532	DPP9-026	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000459343.2			15	19	0	0	0	1	0	15	19					C	4694806	T	C	4694806	2	2	392	1	0	0	0	0	0	0	0	1	4733	1490	52	4		4	DPP9	19	4694806	Silent	SNP	T	TCGA-V1-A9Z7-01A-11D-A41K-08		4694806	54434177	35	19225											
NOTCH3	4854	broad.mit.edu	37	chr19	15276799	15276799	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gccccctggcagatcaggtcGgagatgatgctagctgatgt	8	9	14	10	1	1	4	1	2	0	2	2	5	1	4	2	3	2	3	2	3	1	1	rs148053028	byFrequency	TCGA-V1-A9Z7-01A-11D-A41K-08	TCGA-V1-A9Z7-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10f30605-2413-49d7-a9e7-042fb7c2c336	87158802-66e8-4c56-9f08-3cb5033e6cb4	g.chr19:15276799G>A	ENST00000263388.2	-	30	5541	c.5466C>T	c.(5464-5466)tcC>tcT	p.S1822S		NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	notch 3	1822					forebrain development (GO:0030900)|gene expression (GO:0010467)|glomerular capillary formation (GO:0072104)|negative regulation of neuron differentiation (GO:0045665)|neuron fate commitment (GO:0048663)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|positive regulation of smooth muscle cell proliferation (GO:0048661)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			AGATCAGGTCGGAGATGATGC	0.602													G|||	2	0.000399361	0	0	5008	,	,		17759	0		0.002	False		,,,				2504	0					ENST00000263388.2																			0				breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93						c.(5464-5466)tcC>tcT		notch 3		G		1,4405	2.1+/-5.4	0,1,2202	77	65	69		5466	-5.1	0.9	19	dbSNP_134	69	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	NOTCH3	NM_000435.2		0,3,6500	AA,AG,GG		0.0233,0.0227,0.0231		1822/2322	15276799	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	4854				Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	g.chr19:15276799G>A	U97669	CCDS12326.1	19p13.2-p13.1	2013-01-10	2010-06-24			ENSG00000074181		"Ankyrin repeat domain containing"	7883	protein-coding gene	gene with protein product		600276	"Notch (Drosophila) homolog 3", "Notch homolog 3 (Drosophila)"	CADASIL		7835890	Standard	NM_000435		Approved	CASIL	uc002nan.3	Q9UM47		ENST00000263388.2:c.5466C>T	19.37:g.15276799G>A							p.S1822S	NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)		30	5541	-			1822					Q9UEB3|Q9UPL3|Q9Y6L8	Silent	SNP	ENST00000263388.2	37	c.5466C>T	CCDS12326.1																																																																																				0.602	NOTCH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465714.1	NM_000435		8	18	0	0	0	1	0	8	18					A	15276799	G	A	15276799	2	1	392	1	0	0	0	0	0	0	0	1	10550	1103	39	2		2	NOTCH3	19	15276799	Silent	SNP	G	TCGA-V1-A9Z7-01A-11D-A41K-08	10581993	15276799	43852184	36	19226											
ZNF91	7644	broad.mit.edu	37	chr19	23544340	23544340	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctctccagtgtgtatcctctTatgtctagttagggttgaag	7	16	10	8	0	3	1	0	1	3	0	5	1	4	1	2	1	0	3	2	1	5	5			TCGA-V1-A9Z7-01A-11D-A41K-08	TCGA-V1-A9Z7-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10f30605-2413-49d7-a9e7-042fb7c2c336	87158802-66e8-4c56-9f08-3cb5033e6cb4	g.chr19:23544340T>C	ENST00000300619.7	-	4	1646	c.1441A>G	c.(1441-1443)Aag>Gag	p.K481E	ZNF91_ENST00000599743.1_Intron|ZNF91_ENST00000596528.1_5'Flank|ZNF91_ENST00000397082.2_Missense_Mutation_p.K449E	NM_003430.2	NP_003421.2	Q05481	ZNF91_HUMAN	zinc finger protein 91	481					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)						all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)				TGTATCCTCTTATGTCTAGTT	0.363																																						ENST00000300619.7																			0											c.(1441-1443)Aag>Gag		zinc finger protein 91							49	53	52					19																	23544340		2135	4253	6388	SO:0001583	missense	7644					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:23544340T>C	M61871	CCDS42541.1, CCDS74322.1	19p12	2014-02-04	2006-05-12		ENSG00000167232	ENSG00000167232		"Zinc fingers, C2H2-type", "-"	13166	protein-coding gene	gene with protein product		603971	"zinc finger protein 91 (HPF7, HTF10)"			2023909, 2505992	Standard	XR_430154		Approved	HPF7, HTF10	uc002nre.3	Q05481	OTTHUMG00000183268	ENST00000300619.7:c.1441A>G	19.37:g.23544340T>C	ENSP00000300619:p.Lys481Glu					ZNF91_ENST00000397082.2_Missense_Mutation_p.K449E|ZNF91_ENST00000599743.1_Intron	p.K481E	NM_003430.2	NP_003421.2	Q05481	ZNF91_HUMAN			4	1646	-		all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)	481					A8K5E1|B7Z6G6	Missense_Mutation	SNP	ENST00000300619.7	37	c.1441A>G	CCDS42541.1	.	.	.	.	.	.	.	.	.	.	T	11.65	1.702047	0.30232	.	.	ENSG00000167232	ENST00000300619;ENST00000397082	T;T	0.18016	2.24;2.24	1.71	-1.32	0.09201	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.09202	0.0227	N	0.01624	-0.795	0.09310	N	0.999997	D;B	0.54207	0.965;0.037	P;B	0.54590	0.756;0.034	T	0.18335	-1.0340	9	0.59425	D	0.04	.	4.1831	0.10385	0.0:0.1885:0.4833:0.3281	.	449;481	Q05481-2;Q05481	.;ZNF91_HUMAN	E	481;449	ENSP00000300619:K481E;ENSP00000380272:K449E	ENSP00000300619:K481E	K	-	1	0	ZNF91	23336180	0.224000	0.23674	0.005000	0.12908	0.103000	0.19146	0.738000	0.26158	-0.043000	0.13513	0.172000	0.16884	AAG		0.363	ZNF91-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465891.1	NM_003430		31	70	0	0	0	1	0	31	70					C	23544340	T	C	23544340	3	2	392	1	0	0	0	0	1	0	0	0	18197	1763	61	4	2138	4	ZNF91	19	23544340	Missense_Mutation	SNP	T	TCGA-V1-A9Z7-01A-11D-A41K-08	8267541	23544340	35584643	37	19227											
DEFB129	140881	broad.mit.edu	37	chr20	207948	207948	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccatgaagctcctttttcctAtctttgccagcctcatgcta	7	15	5	14	0	2	1	1	1	1	0	4	1	4	1	5	0	4	2	5	0	3	5			TCGA-V1-A9Z7-01A-11D-A41K-08	TCGA-V1-A9Z7-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10f30605-2413-49d7-a9e7-042fb7c2c336	87158802-66e8-4c56-9f08-3cb5033e6cb4	g.chr20:207948A>G	ENST00000246105.4	+	1	50	c.19A>G	c.(19-21)Atc>Gtc	p.I7V		NM_080831.3	NP_543021.1	Q9H1M3	DB129_HUMAN	defensin, beta 129	7					defense response to bacterium (GO:0042742)	extracellular region (GO:0005576)				endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(1)|ovary(1)|stomach(1)	9		all_cancers(10;7.65e-05)|Lung NSC(37;0.0417)|all_epithelial(17;0.0676)|all_lung(30;0.0713)|Breast(17;0.231)	OV - Ovarian serous cystadenocarcinoma(29;0.122)			CCTTTTTCCTATCTTTGCCAG	0.498																																						ENST00000246105.4																			0				endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(1)|ovary(1)|stomach(1)	9						c.(19-21)Atc>Gtc		defensin, beta 129							192	159	170					20																	207948		2203	4300	6503	SO:0001583	missense	140881				defense response to bacterium	extracellular region		g.chr20:207948A>G	AY358186	CCDS12992.1	20p13	2010-03-30	2002-05-09	2002-05-10	ENSG00000125903	ENSG00000125903		"Defensins, beta"	16218	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 87"	C20orf87		11854508	Standard	NM_080831		Approved	bA530N10.3, DEFB-29	uc002wda.3	Q9H1M3	OTTHUMG00000031618	ENST00000246105.4:c.19A>G	20.37:g.207948A>G	ENSP00000246105:p.Ile7Val						p.I7V	NM_080831.3	NP_543021.1	Q9H1M3	DB129_HUMAN	OV - Ovarian serous cystadenocarcinoma(29;0.122)		1	50	+		all_cancers(10;7.65e-05)|Lung NSC(37;0.0417)|all_epithelial(17;0.0676)|all_lung(30;0.0713)|Breast(17;0.231)	7					Q8NES7	Missense_Mutation	SNP	ENST00000246105.4	37	c.19A>G	CCDS12992.1	.	.	.	.	.	.	.	.	.	.	A	13.78	2.340046	0.41398	.	.	ENSG00000125903	ENST00000246105	T	0.51325	0.71	4.39	-4.08	0.03963	.	0.554124	0.16543	N	0.209848	T	0.24236	0.0587	N	0.19112	0.55	0.18873	N	0.999986	B	0.24043	0.096	B	0.18263	0.021	T	0.06391	-1.0829	10	0.51188	T	0.08	-9.7204	5.7859	0.18333	0.3031:0.3096:0.3873:0.0	.	7	Q9H1M3	DB129_HUMAN	V	7	ENSP00000246105:I7V	ENSP00000246105:I7V	I	+	1	0	DEFB129	155948	0.972000	0.33761	0.423000	0.26634	0.886000	0.51366	-0.038000	0.12144	-0.812000	0.04363	-1.811000	0.00612	ATC		0.498	DEFB129-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077430.2	NM_080831		11	73	0	0	0	1	0	11	73					G	207948	A	G	207948	3	3	392	1	0	0	0	0	1	0	0	0	4415	449	16	4	21	4	DEFB129	20	207948	Missense_Mutation	SNP	A	TCGA-V1-A9Z7-01A-11D-A41K-08		207948	62817572	38	19228											
DPM1	8813	broad.mit.edu	37	chr20	49557452	49557452	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggtctcagcaagatctgagtTaaaaaattggccccacggct	12	9	10	10	1	2	2	1	1	2	1	3	2	2	2	2	3	1	3	2	3	4	2			TCGA-V1-A9Z7-01A-11D-A41K-08	TCGA-V1-A9Z7-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10f30605-2413-49d7-a9e7-042fb7c2c336	87158802-66e8-4c56-9f08-3cb5033e6cb4	g.chr20:49557452T>A	ENST00000371588.5	-	7	539	c.513A>T	c.(511-513)ttA>ttT	p.L171F	RP5-914P20.5_ENST00000558899.2_RNA|DPM1_ENST00000371583.5_Missense_Mutation_p.L166F|AL034553.1_ENST00000584882.1_RNA|DPM1_ENST00000466152.1_5'UTR|DPM1_ENST00000371582.4_Missense_Mutation_p.L198F	NM_003859.1	NP_003850.1	O60762	DPM1_HUMAN	dolichyl-phosphate mannosyltransferase polypeptide 1, catalytic subunit	171					C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|dolichol metabolic process (GO:0019348)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|GDP-mannose metabolic process (GO:0019673)|GPI anchor biosynthetic process (GO:0006506)|post-translational protein modification (GO:0043687)|protein mannosylation (GO:0035268)|protein N-linked glycosylation via asparagine (GO:0018279)|protein O-linked mannosylation (GO:0035269)	dolichol-phosphate-mannose synthase complex (GO:0033185)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|membrane (GO:0016020)|nucleus (GO:0005634)	alcohol binding (GO:0043178)|dolichyl-phosphate beta-D-mannosyltransferase activity (GO:0004582)|dolichyl-phosphate-mannose-protein mannosyltransferase activity (GO:0004169)|mannose binding (GO:0005537)			endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	7						AGATCTGAGTTAAAAAATTGG	0.343																																						ENST00000371582.4																			0				endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	7						c.(592-594)ttA>ttT		dolichyl-phosphate mannosyltransferase polypeptide 1, catalytic subunit							58	64	62					20																	49557452		2203	4300	6503	SO:0001583	missense	8813				C-terminal protein lipidation|dolichol metabolic process|dolichol-linked oligosaccharide biosynthetic process|GPI anchor biosynthetic process|protein N-linked glycosylation via asparagine|protein O-linked mannosylation	dolichol-phosphate-mannose synthase complex|endoplasmic reticulum membrane|membrane fraction	dolichyl-phosphate beta-D-mannosyltransferase activity|dolichyl-phosphate-mannose-protein mannosyltransferase activity|protein binding	g.chr20:49557452T>A	AF007875	CCDS13434.1	20q13.1	2013-02-26			ENSG00000000419	ENSG00000000419	2.4.1.83	"Glycosyltransferase family 2 domain containing"	3005	protein-coding gene	gene with protein product	"DPM synthase complex, catalytic subunit"	603503				9223280, 9535917	Standard	NM_003859		Approved	MPDS, CDGIE	uc002xvw.1	O60762	OTTHUMG00000032742	ENST00000371588.5:c.513A>T	20.37:g.49557452T>A	ENSP00000360644:p.Leu171Phe					DPM1_ENST00000466152.1_5'UTR|RP5-914P20.5_ENST00000558899.2_RNA|DPM1_ENST00000371588.5_Missense_Mutation_p.L171F|DPM1_ENST00000371583.5_Missense_Mutation_p.L166F	p.L198F			O60762	DPM1_HUMAN			8	625	-			171					O15157|Q6IB78|Q96HK0	Missense_Mutation	SNP	ENST00000371588.5	37	c.594A>T	CCDS13434.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	15.07|15.07	2.723187|2.723187	0.48728|0.48728	.|.	.|.	ENSG00000000419|ENSG00000000419	ENST00000371588;ENST00000371582;ENST00000449701;ENST00000371583;ENST00000413082|ENST00000371584	T;T;T;T|.	0.60171|.	0.21;0.21;0.21;0.21|.	5.93|5.93	2.41|2.41	0.29592|0.29592	Glycosyl transferase, family 2 (1);|.	0.356454|.	0.34245|.	N|.	0.004123|.	T|T	0.57344|0.57344	0.2047|0.2047	M|M	0.62723|0.62723	1.935|1.935	0.39336|0.39336	D|D	0.9655|0.9655	B;B|.	0.28850|.	0.225;0.112|.	B;B|.	0.37387|.	0.248;0.248|.	T|T	0.51826|0.51826	-0.8656|-0.8656	9|5	.|.	.|.	.|.	-5.2211|-5.2211	4.7284|4.7284	0.12952|0.12952	0.1182:0.0658:0.1237:0.6924|0.1182:0.0658:0.1237:0.6924	.|.	171;206|.	O60762;E9PBD4|.	DPM1_HUMAN;.|.	F|Y	171;198;206;166;166|206	ENSP00000360644:L171F;ENSP00000360638:L198F;ENSP00000360639:L166F;ENSP00000394921:L166F|.	.|.	L|N	-|-	3|1	2|0	DPM1|DPM1	48990859|48990859	0.998000|0.998000	0.40836|0.40836	0.995000|0.995000	0.50966|0.50966	0.992000|0.992000	0.81027|0.81027	0.476000|0.476000	0.22180|0.22180	0.134000|0.134000	0.18681|0.18681	0.533000|0.533000	0.62120|0.62120	TTA|AAC		0.343	DPM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079716.1	NM_003859		26	64	0	0	0	1	0	26	64					A	49557452	T	A	49557452	3	1	392	1	0	0	0	0	1	0	0	0	4724	1751	61	5	281	5	DPM1	20	49557452	Missense_Mutation	SNP	T	TCGA-V1-A9Z7-01A-11D-A41K-08	49349504	49557452	13468068	39	19229											
CCNL2	81669	broad.mit.edu	37	chr1	1330837	1330837	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agaactcgtctttccgccttTataatttggttctttaaatt	9	19	5	8	2	2	1	0	0	2	1	4	1	3	1	2	1	1	1	2	1	5	9	rs370460090		TCGA-V1-A9Z8-01A-11D-A41K-08	TCGA-V1-A9Z8-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a82201da-16d7-42b1-860d-3d11fd33f502	9d1b2c85-05c5-4720-bbbc-07aaad25033e	g.chr1:1330837T>C	ENST00000400809.3	-	4	536	c.531A>G	c.(529-531)atA>atG	p.I177M	CCNL2_ENST00000408918.4_Missense_Mutation_p.I177M|CCNL2_ENST00000408952.5_De_novo_Start_OutOfFrame	NM_030937.4	NP_112199.2	Q96S94	CCNL2_HUMAN	cyclin L2	177	Cyclin-like 1.				regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of transcription, DNA-templated (GO:0006355)|RNA processing (GO:0006396)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(3)|ovary(2)|prostate(2)	13	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;2.03e-36)|OV - Ovarian serous cystadenocarcinoma(86;4.17e-22)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.0023)|BRCA - Breast invasive adenocarcinoma(365;0.00465)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.146)		TTTCCGCCTTTATAATTTGGT	0.512																																						ENST00000408952.5																			0				central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(3)|ovary(2)|prostate(2)	13								cyclin L2							121	123	122					1																	1330837		2203	4300	6503	SO:0001583	missense	81669				regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|RNA processing|transcription, DNA-dependent	nuclear speck	protein kinase binding	g.chr1:1330837T>C	AF251294	CCDS30557.1, CCDS30558.1	1p36.33	2014-07-03			ENSG00000221978	ENSG00000221978			20570	protein-coding gene	gene with protein product	"cyclin S"	613482	"cyclin M"	CCNM		14725631	Standard	NM_030937		Approved	ania-6b, PCEE, SB138, HLA-ISO, CCNS	uc001afi.2	Q96S94	OTTHUMG00000002917	ENST00000400809.3:c.531A>G	1.37:g.1330837T>C	ENSP00000383611:p.Ile177Met					CCNL2_ENST00000400809.3_Missense_Mutation_p.I177M|CCNL2_ENST00000408918.4_Missense_Mutation_p.I177M				Q96S94	CCNL2_HUMAN		Epithelial(90;2.03e-36)|OV - Ovarian serous cystadenocarcinoma(86;4.17e-22)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.0023)|BRCA - Breast invasive adenocarcinoma(365;0.00465)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.146)	0	152	-	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)						A8K8A3|B1B152|Q5T2N5|Q5T2N6|Q6IQ12|Q7Z4Z8|Q8N3C9|Q8N3D5|Q8NHE3|Q8TEL0|Q96B00	Translation_Start_Site	SNP	ENST00000400809.3	37		CCDS30557.1	.	.	.	.	.	.	.	.	.	.	T	17.44	3.390972	0.62066	.	.	ENSG00000221978	ENST00000400809;ENST00000408918	T;T	0.11821	2.74;2.74	5.62	1.82	0.25136	Cyclin, N-terminal (1);Cyclin-like (3);	0.000000	0.85682	D	0.000000	T	0.28167	0.0695	M	0.62154	1.92	0.80722	D	1	D;D;D	0.89917	0.985;1.0;0.997	D;D;D	0.91635	0.93;0.999;0.979	T	0.00666	-1.1619	10	0.35671	T	0.21	.	8.0662	0.30661	0.1329:0.0:0.3678:0.4993	.	177;177;177	F2Z3J5;Q96S94;Q96S94-2	.;CCNL2_HUMAN;.	M	177	ENSP00000383611:I177M;ENSP00000386158:I177M	ENSP00000383611:I177M	I	-	3	3	CCNL2	1320700	1.000000	0.71417	0.984000	0.44739	0.846000	0.48090	0.578000	0.23773	0.052000	0.16007	0.533000	0.62120	ATA		0.512	CCNL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008146.2	NM_030937		5	46	0	0	0	1	0	5	46					C	1330837	T	C	1330837	3	2	393	1	0	0	0	0	1	0	0	0	2932	1744	61	4	1089	4	CCNL2	1	1330837	Missense_Mutation	SNP	T	TCGA-V1-A9Z8-01A-11D-A41K-08		1330837	247919784	1	19230											
CCNL2	81669	broad.mit.edu	37	chr1	1334009	1334017	+	In_Frame_Del	DEL	AAAAGAACC	AAAAGAACC	-																															cttcacgaaggacttggtatAaaagaaccgctggaacaaca																										TCGA-V1-A9Z8-01A-11D-A41K-08	TCGA-V1-A9Z8-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a82201da-16d7-42b1-860d-3d11fd33f502	9d1b2c85-05c5-4720-bbbc-07aaad25033e	g.chr1:1334009_1334017delAAAAGAACC	ENST00000400809.3	-	2	328_336	c.323_331delGGTTCTTTT	c.(322-333)cggttcttttat>cat	p.108_111RFFY>H	RP4-758J18.2_ENST00000576232.1_5'Flank|CCNL2_ENST00000408918.4_In_Frame_Del_p.108_111RFFY>H|RP4-758J18.2_ENST00000444362.1_5'Flank|CCNL2_ENST00000408952.5_5'Flank|RP4-758J18.2_ENST00000448629.2_5'Flank	NM_030937.4	NP_112199.2	Q96S94	CCNL2_HUMAN	cyclin L2	108	Cyclin-like 1.				regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of transcription, DNA-templated (GO:0006355)|RNA processing (GO:0006396)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(3)|ovary(2)|prostate(2)	13	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;2.03e-36)|OV - Ovarian serous cystadenocarcinoma(86;4.17e-22)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.0023)|BRCA - Breast invasive adenocarcinoma(365;0.00465)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.146)		GACTTGGTATAAAAGAACCGCTGGAACAA	0.488																																						ENST00000400809.3																			0				central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(3)|ovary(2)|prostate(2)	13						c.(322-333)cat>c		cyclin L2																																				SO:0001651	inframe_deletion	81669				regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|RNA processing|transcription, DNA-dependent	nuclear speck	protein kinase binding	g.chr1:1334009_1334017delAAAAGAACC	AF251294	CCDS30557.1, CCDS30558.1	1p36.33	2014-07-03			ENSG00000221978	ENSG00000221978			20570	protein-coding gene	gene with protein product	"cyclin S"	613482	"cyclin M"	CCNM		14725631	Standard	NM_030937		Approved	ania-6b, PCEE, SB138, HLA-ISO, CCNS	uc001afi.2	Q96S94	OTTHUMG00000002917	ENST00000400809.3:c.323_331delGGTTCTTTT	1.37:g.1334009_1334017delAAAAGAACC	ENSP00000383611:p.Arg108_Tyr111delinsHis					CCNL2_ENST00000408918.4_In_Frame_Del_p.RFFY108del	p.RFFY108del	NM_030937.4	NP_112199.2	Q96S94	CCNL2_HUMAN		Epithelial(90;2.03e-36)|OV - Ovarian serous cystadenocarcinoma(86;4.17e-22)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.0023)|BRCA - Breast invasive adenocarcinoma(365;0.00465)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.146)	2	328_336	-	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)	108			Cyclin-like 1.		A8K8A3|B1B152|Q5T2N5|Q5T2N6|Q6IQ12|Q7Z4Z8|Q8N3C9|Q8N3D5|Q8NHE3|Q8TEL0|Q96B00	In_Frame_Del	DEL	ENST00000400809.3	37	c.323_331delGGTTCTTTT	CCDS30557.1																																																																																				0.488	CCNL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008146.2	NM_030937		8	44						8	44	---	---	---	---	-	1334017	AAAAGAACC	-	1334009	7	5	393	1	0	1	0	1	0	0	0	0	2932	362	13	0	1297	0	CCNL2	1	1334009	In_Frame_Del	DEL	AAAAGAACC	TCGA-V1-A9Z8-01A-11D-A41K-08	3172	1334009	247916612	2	19231											
PRDM16	63976	broad.mit.edu	37	chr1	3342784	3342784	+	Frame_Shift_Del	DEL	G	G	-																															caagcatcaacgcgaacagaGaaacggtaagaaaactatcg																										TCGA-V1-A9Z8-01A-11D-A41K-08	TCGA-V1-A9Z8-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a82201da-16d7-42b1-860d-3d11fd33f502	9d1b2c85-05c5-4720-bbbc-07aaad25033e	g.chr1:3342784delG	ENST00000270722.5	+	14	3328	c.3279delG	c.(3277-3279)gagfs	p.E1093fs	PRDM16_ENST00000511072.1_Frame_Shift_Del_p.E1094fs|PRDM16_ENST00000512462.1_3'UTR|PRDM16_ENST00000441472.2_Frame_Shift_Del_p.E1092fs|PRDM16_ENST00000378398.3_Frame_Shift_Del_p.E1093fs|PRDM16_ENST00000514189.1_Frame_Shift_Del_p.E1093fs|PRDM16_ENST00000378391.2_Frame_Shift_Del_p.E1093fs|PRDM16_ENST00000442529.2_Frame_Shift_Del_p.E1092fs			Q9HAZ2	PRD16_HUMAN	PR domain containing 16	1093	Mediates interaction with SKI and regulation of TGF-beta signaling.				brown fat cell differentiation (GO:0050873)|negative regulation of granulocyte differentiation (GO:0030853)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neurogenesis (GO:0022008)|palate development (GO:0060021)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cellular respiration (GO:0043457)|somatic stem cell maintenance (GO:0035019)|tongue development (GO:0043586)|transcription, DNA-templated (GO:0006351)|white fat cell differentiation (GO:0050872)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)			breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(3)	59	all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111)	all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134)		Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137)		CGCGAACAGAGAAACGGTAAG	0.512			T	EVI1	"MDS, AML"																																	ENST00000378398.3				Dom	yes		1	1p36.23-p33	63976	T	PR domain containing 16			L	EVI1		"MDS, AML"		0				breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(3)	59						c.(3277-3279)gafs		PR domain containing 16							81	85	84					1																	3342784		1945	4146	6091	SO:0001589	frameshift_variant	63976				brown fat cell differentiation|negative regulation of granulocyte differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cellular respiration|transcription, DNA-dependent	transcriptional repressor complex	protein binding|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding	g.chr1:3342784delG	AF294278	CCDS41236.1, CCDS44048.1, CCDS41236.2, CCDS44048.2	1p36.23-p33	2013-01-08			ENSG00000142611	ENSG00000142611		"Zinc fingers, C2H2-type"	14000	protein-coding gene	gene with protein product	"MDS1/EVI1-like", "PR-domain zinc finger protein 16", "transcription factor MEL1"	605557				11050005	Standard	NM_199454		Approved	MEL1, PFM13, KIAA1675, MGC166915	uc001akf.3	Q9HAZ2	OTTHUMG00000000581	ENST00000270722.5:c.3279delG	1.37:g.3342784delG	ENSP00000270722:p.Glu1093fs					PRDM16_ENST00000514189.1_Frame_Shift_Del_p.E1093fs|PRDM16_ENST00000511072.1_Frame_Shift_Del_p.E1094fs|PRDM16_ENST00000512462.1_3'UTR|PRDM16_ENST00000442529.2_Frame_Shift_Del_p.E1092fs|PRDM16_ENST00000441472.2_Frame_Shift_Del_p.E1092fs|PRDM16_ENST00000378391.2_Frame_Shift_Del_p.E1093fs|PRDM16_ENST00000270722.5_Frame_Shift_Del_p.E1093fs	p.E1093fs			Q9HAZ2	PRD16_HUMAN		Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137)	15	3361	+	all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111)	all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134)	1093			Mediates interaction with SKI and regulation of TGF-beta signaling.		A6NHQ8|B1AJP7|B1AJP8|B1AJP9|B1WB48|Q8WYJ9|Q9C0I8	Frame_Shift_Del	DEL	ENST00000270722.5	37	c.3279delG	CCDS41236.2																																																																																				0.512	PRDM16-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000001382.3	NM_022114		8	42						8	42	---	---	---	---	-	3342784	G	-	3342784	7	5	393	1	0	1	0	1	0	0	0	0	12457	933	33	0	3333	0	PRDM16	1	3342784	Frame_Shift_Del	DEL	G	TCGA-V1-A9Z8-01A-11D-A41K-08	2008775	3342784	245907837	3	19232											
KIAA0562	9731	broad.mit.edu	37	chr1	3745933	3745933	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cttctgtagccgcttttctcCgtgcctggtaagaaaattat	8	15	8	10	2	2	1	0	0	2	1	3	1	2	1	3	1	2	3	3	1	5	6	rs140499832		TCGA-V1-A9Z8-01A-11D-A41K-08	TCGA-V1-A9Z8-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a82201da-16d7-42b1-860d-3d11fd33f502	9d1b2c85-05c5-4720-bbbc-07aaad25033e	g.chr1:3745933C>T	ENST00000378230.3	-	15	2372	c.2048G>A	c.(2047-2049)cGg>cAg	p.R683Q	CEP104_ENST00000460038.1_5'Flank	NM_014704.3	NP_055519.1	O60308	CE104_HUMAN	centrosomal protein 104kDa	683						centriole (GO:0005814)	glutamate binding (GO:0016595)|glycine binding (GO:0016594)|thienylcyclohexylpiperidine binding (GO:0016596)			breast(2)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(14)|lung(8)|prostate(1)|skin(3)	39						CGCTTTTCTCCGTGCCTGGTA	0.358													C|||	1	0.000199681	0	0	5008	,	,		17536	0		0	False		,,,				2504	0.001					ENST00000378230.3																			0				breast(2)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(14)|lung(8)|prostate(1)|skin(3)	39						c.(2047-2049)cGg>cAg		centrosomal protein 104kDa		C	GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	48	51	50		2048	4.2	1	1	dbSNP_134	50	1,8599	1.2+/-3.3	0,1,4299	no	missense	CEP104	NM_014704.3	43	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	benign	683/926	3745933	2,13004	2203	4300	6503	SO:0001583	missense	9731					centriole	binding	g.chr1:3745933C>T	AB011134	CCDS30571.1	1p36.32	2014-02-20	2011-05-06	2011-05-06	ENSG00000116198	ENSG00000116198			24866	protein-coding gene	gene with protein product	"glycine, glutamate, thienylcyclohexylpiperidine binding protein"		"KIAA0562"	KIAA0562		7488117, 21399614	Standard	NM_014704		Approved	GlyBP, RP1-286D6.4	uc001aky.2	O60308	OTTHUMG00000003507	ENST00000378230.3:c.2048G>A	1.37:g.3745933C>T	ENSP00000367476:p.Arg683Gln						p.R683Q	NM_014704.3	NP_055519.1	O60308	CE104_HUMAN			15	2372	-			683					Q5JSQ3|Q5SR24|Q5SR25|Q6PKF5|Q86W32|Q86X14	Missense_Mutation	SNP	ENST00000378230.3	37	c.2048G>A	CCDS30571.1	.	.	.	.	.	.	.	.	.	.	C	7.536	0.659764	0.14645	2.27E-4	1.16E-4	ENSG00000116198	ENST00000378230	T	0.35789	1.29	5.42	4.23	0.50019	.	0.401453	0.26362	N	0.024804	T	0.06826	0.0174	N	0.00057	-2.36	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.17258	-1.0375	10	0.07644	T	0.81	.	10.1095	0.42555	0.0:0.0805:0.0:0.9195	.	683	O60308	CE104_HUMAN	Q	683	ENSP00000367476:R683Q	ENSP00000367476:R683Q	R	-	2	0	CEP104	3735793	1.000000	0.71417	1.000000	0.80357	0.638000	0.38207	1.471000	0.35365	0.886000	0.36113	-0.423000	0.05987	CGG		0.358	CEP104-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009747.3	NM_014704		10	35	0	0	0	1	0	10	35					T	3745933	C	T	3745933	3	4	393	1	0	0	0	0	1	0	0	0	8184	652	23	2	761	2	KIAA0562	1	3745933	Missense_Mutation	SNP	C	TCGA-V1-A9Z8-01A-11D-A41K-08	403149	3745933	245504688	4	19233											
RWDD3	25950	broad.mit.edu	37	chr1	95712099	95712099	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtactgatttattatttaggAgtacttgattcttcagaaaa	13	17	7	4	0	2	3	1	2	1	1	2	4	2	4	0	1	2	2	0	1	7	10			TCGA-V1-A9Z8-01A-11D-A41K-08	TCGA-V1-A9Z8-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a82201da-16d7-42b1-860d-3d11fd33f502	9d1b2c85-05c5-4720-bbbc-07aaad25033e	g.chr1:95712099A>G	ENST00000370202.4	+	3	651	c.575A>G	c.(574-576)gAg>gGg	p.E192G	RWDD3_ENST00000263893.6_Intron|RP11-57H12.5_ENST00000444665.1_RNA|RWDD3_ENST00000495272.1_3'UTR|RP11-57H12.5_ENST00000598739.1_RNA	NM_001199682.1|NM_015485.4	NP_001186611.1|NP_056300	Q9Y3V2	RWDD3_HUMAN	RWD domain containing 3	192					negative regulation of NF-kappaB transcription factor activity (GO:0032088)|positive regulation of hypoxia-inducible factor-1alpha signaling pathway (GO:1902073)|positive regulation of protein sumoylation (GO:0033235)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				kidney(1)|large_intestine(2)|lung(6)|ovary(1)	10		all_epithelial(167;5.99e-05)|all_lung(203;0.00168)|Lung NSC(277;0.00769)		all cancers(265;0.112)|Epithelial(280;0.229)		ATTATTTAGGAGTACTTGATT	0.328																																						ENST00000370202.4																			0				kidney(1)|large_intestine(2)|lung(6)|ovary(1)	10						c.e3-1		RWD domain containing 3							76	72	73					1																	95712099		1804	4066	5870	SO:0001630	splice_region_variant	25950					cytoplasm|nucleus	protein binding	g.chr1:95712099A>G	BC010936	CCDS41357.1, CCDS44177.1	1p22.1	2012-12-07			ENSG00000122481	ENSG00000122481			21393	protein-coding gene	gene with protein product		615875				11230166	Standard	NM_015485		Approved	DKFZP566K023	uc009wdu.3	Q9Y3V2	OTTHUMG00000010910	ENST00000370202.4:c.574-1A>G	1.37:g.95712099A>G						RWDD3_ENST00000263893.6_Intron|RWDD3_ENST00000495272.1_3'UTR|RP11-57H12.5_ENST00000444665.1_RNA	p.E192_splice	NM_001199682.1|NM_015485.4	NP_001186611.1|NP_056300.2	Q9Y3V2	RWDD3_HUMAN		all cancers(265;0.112)|Epithelial(280;0.229)	3	651	+		all_epithelial(167;5.99e-05)|all_lung(203;0.00168)|Lung NSC(277;0.00769)	192					A6NP44|A8K9F0|C9J9L7|C9JI45|Q08AJ7|Q6FID3|Q9BX35	Splice_Site	SNP	ENST00000370202.4	37	c.573_splice	CCDS41357.1	.	.	.	.	.	.	.	.	.	.	A	22.2	4.254451	0.80135	.	.	ENSG00000122481	ENST00000370202	T	0.38560	1.13	6.03	6.03	0.97812	.	0.159409	0.53938	D	0.000050	T	0.55878	0.1948	.	.	.	0.80722	D	1	D	0.76494	0.999	P	0.61874	0.895	T	0.62077	-0.6930	9	0.87932	D	0	-9.7209	16.5582	0.84512	1.0:0.0:0.0:0.0	.	192	Q9Y3V2	RWDD3_HUMAN	G	192	ENSP00000359221:E192G	ENSP00000359221:E192G	E	+	2	0	RWDD3	95484687	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	7.049000	0.76613	2.308000	0.77769	0.533000	0.62120	GAG		0.328	RWDD3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030078.1	NM_015485	Missense_Mutation	8	33	0	0	0	1	0	8	33					G	95712099	A	G	95712099	5	3	393	1	0	0	0	0	0	0	1	0	13757	318	11	4	600	4	RWDD3	1	95712099	Splice_Site	SNP	A	TCGA-V1-A9Z8-01A-11D-A41K-08	91966166	95712099	153538522	5	19234											
LRIG2	9860	broad.mit.edu	37	chr1	113636080	113636080	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atataatcccagaaataaatGcacaggcactccagttttac	16	10	5	10	0	0	1	0	0	0	1	2	1	2	1	2	1	2	3	2	1	6	5			TCGA-V1-A9Z8-01A-11D-A41K-08	TCGA-V1-A9Z8-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a82201da-16d7-42b1-860d-3d11fd33f502	9d1b2c85-05c5-4720-bbbc-07aaad25033e	g.chr1:113636080G>A	ENST00000361127.5	+	4	607	c.409G>A	c.(409-411)Gca>Aca	p.A137T		NM_014813.1	NP_055628.1	O94898	LRIG2_HUMAN	leucine-rich repeats and immunoglobulin-like domains 2	137					innervation (GO:0060384)|regulation of platelet-derived growth factor receptor signaling pathway (GO:0010640)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(10)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1)	31	Lung SC(450;0.246)	all_cancers(81;1.56e-05)|all_epithelial(167;2.62e-05)|all_lung(203;0.000665)|Lung NSC(69;0.000986)		Lung(183;0.0279)|Colorectal(144;0.0885)|COAD - Colon adenocarcinoma(174;0.134)|all cancers(265;0.139)|Epithelial(280;0.143)|LUSC - Lung squamous cell carcinoma(189;0.15)		AGAAATAAATGCACAGGCACT	0.388																																						ENST00000361127.4																			0				breast(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(10)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1)	31						c.(409-411)Gca>Aca		leucine-rich repeats and immunoglobulin-like domains 2							73	75	75					1																	113636080		2203	4300	6503	SO:0001583	missense	9860					cytoplasm|integral to membrane|plasma membrane		g.chr1:113636080G>A	AB018349	CCDS30808.1	1p13.1	2013-01-11			ENSG00000198799	ENSG00000198799		"Immunoglobulin superfamily / I-set domain containing"	20889	protein-coding gene	gene with protein product		608869					Standard	XM_005271369		Approved	KIAA0806	uc001edf.1	O94898	OTTHUMG00000012133	ENST00000361127.5:c.409G>A	1.37:g.113636080G>A	ENSP00000355396:p.Ala137Thr						p.A137T	NM_014813.1	NP_055628.1	O94898	LRIG2_HUMAN		Lung(183;0.0279)|Colorectal(144;0.0885)|COAD - Colon adenocarcinoma(174;0.134)|all cancers(265;0.139)|Epithelial(280;0.143)|LUSC - Lung squamous cell carcinoma(189;0.15)	4	607	+	Lung SC(450;0.246)	all_cancers(81;1.56e-05)|all_epithelial(167;2.62e-05)|all_lung(203;0.000665)|Lung NSC(69;0.000986)	137					Q9NSN2	Missense_Mutation	SNP	ENST00000361127.5	37	c.409G>A	CCDS30808.1	.	.	.	.	.	.	.	.	.	.	G	14.49	2.550783	0.45383	.	.	ENSG00000198799	ENST00000361127	T	0.25414	1.8	5.34	4.42	0.53409	.	0.244450	0.41712	D	0.000838	T	0.10465	0.0256	L	0.45744	1.44	0.40720	D	0.982652	B	0.06786	0.001	B	0.09377	0.004	T	0.05599	-1.0875	10	0.25751	T	0.34	.	11.7478	0.51830	0.0:0.1337:0.7274:0.1389	.	137	O94898	LRIG2_HUMAN	T	137	ENSP00000355396:A137T	ENSP00000355396:A137T	A	+	1	0	LRIG2	113437603	1.000000	0.71417	1.000000	0.80357	0.692000	0.40212	1.204000	0.32296	1.240000	0.43803	0.609000	0.83330	GCA		0.388	LRIG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033549.2	NM_014813		4	68	0	0	0	1	0	4	68					A	113636080	G	A	113636080	3	1	393	1	0	0	0	0	1	0	0	0	8945	1319	46	3	423	3	LRIG2	1	113636080	Missense_Mutation	SNP	G	TCGA-V1-A9Z8-01A-11D-A41K-08	17923981	113636080	135614541	6	19235											
FLG	2312	broad.mit.edu	37	chr1	152282031	152282031	+	Frame_Shift_Del	DEL	G	G	-																															ggccctgtgcgtccatgggcGgactcagactgttcatgagt																								rs145158439	byFrequency	TCGA-V1-A9Z8-01A-11D-A41K-08	TCGA-V1-A9Z8-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a82201da-16d7-42b1-860d-3d11fd33f502	9d1b2c85-05c5-4720-bbbc-07aaad25033e	g.chr1:152282031delG	ENST00000368799.1	-	3	5366	c.5331delC	c.(5329-5331)tccfs	p.S1777fs	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1777	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GTCCATGGGCGGACTCAGACT	0.607									Ichthyosis																													ENST00000368799.1																			0				autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424						c.(5329-5331)tcfs		filaggrin							205	212	209					1																	152282031		2203	4300	6503	SO:0001589	frameshift_variant	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152282031delG	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"EF-hand domain containing"	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.5331delC	1.37:g.152282031delG	ENSP00000357789:p.Ser1777fs					FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	p.S1777fs	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	5366	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1777			Ser-rich.		Q01720|Q5T583|Q9UC71	Frame_Shift_Del	DEL	ENST00000368799.1	37	c.5331delC	CCDS30860.1																																																																																				0.607	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		23	202						23	202	---	---	---	---	-	152282031	G	-	152282031	7	5	393	1	0	1	0	1	0	0	0	0	5922	1103	39	0	6858	0	FLG	1	152282031	Frame_Shift_Del	DEL	G	TCGA-V1-A9Z8-01A-11D-A41K-08	38645951	152282031	96968590	7	19236											
FLG2	388698	broad.mit.edu	37	chr1	152327955	152327955	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccagaactgtgttggccataGctagactgacctgatctaga	11	10	10	10	0	1	5	0	2	1	3	1	5	1	5	3	1	2	2	3	1	4	4			TCGA-V1-A9Z8-01A-11D-A41K-08	TCGA-V1-A9Z8-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a82201da-16d7-42b1-860d-3d11fd33f502	9d1b2c85-05c5-4720-bbbc-07aaad25033e	g.chr1:152327955G>A	ENST00000388718.5	-	3	2379	c.2307C>T	c.(2305-2307)agC>agT	p.S769S	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	769	Ser-rich.				establishment of skin barrier (GO:0061436)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)	p.S769S(1)		NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GTTGGCCATAGCTAGACTGAC	0.517																																						ENST00000388718.5																			1	Substitution - coding silent(1)	p.S769S(1)	kidney(1)	NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188						c.(2305-2307)agC>agT		filaggrin family member 2							412	337	362					1																	152327955		2203	4300	6503	SO:0001819	synonymous_variant	388698						calcium ion binding|structural molecule activity	g.chr1:152327955G>A	AY827490	CCDS30861.1	1q21.3	2013-01-10			ENSG00000143520	ENSG00000143520		"EF-hand domain containing"	33276	protein-coding gene	gene with protein product						12477932	Standard	NM_001014342		Approved	IFPS	uc001ezw.4	Q5D862	OTTHUMG00000012245	ENST00000388718.5:c.2307C>T	1.37:g.152327955G>A						FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	p.S769S	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	2379	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		769			Ser-rich.		Q9H4U1	Silent	SNP	ENST00000388718.5	37	c.2307C>T	CCDS30861.1																																																																																				0.517	FLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034018.5	NM_001014342		7	295	0	0	0	1	0	7	295					A	152327955	G	A	152327955	2	1	393	1	0	0	0	0	0	0	0	1	5923	962	34	3		3	FLG2	1	152327955	Silent	SNP	G	TCGA-V1-A9Z8-01A-11D-A41K-08	45924	152327955	96922666	8	19237											
C2orf86	51057	broad.mit.edu	37	chr2	63666959	63666959	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcaccactttctccagctgcGgcccagaaaggcttagagac	10	8	9	14	1	2	2	1	0	1	2	3	3	2	2	3	2	2	2	3	2	2	2			TCGA-V1-A9Z8-01A-11D-A41K-08	TCGA-V1-A9Z8-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a82201da-16d7-42b1-860d-3d11fd33f502	9d1b2c85-05c5-4720-bbbc-07aaad25033e	g.chr2:63666959G>A	ENST00000272321.7	-	7	958	c.431C>T	c.(430-432)cCg>cTg	p.P144L	WDPCP_ENST00000409199.1_Intron|WDPCP_ENST00000409835.1_5'UTR|WDPCP_ENST00000409562.3_Missense_Mutation_p.P144L|WDPCP_ENST00000409120.1_5'UTR|WDPCP_ENST00000398544.3_5'Flank	NM_015910.5	NP_056994.3	O95876	FRITZ_HUMAN	WD repeat containing planar cell polarity effector	144					auditory receptor cell morphogenesis (GO:0002093)|camera-type eye development (GO:0043010)|cardiovascular system development (GO:0072358)|cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|digestive system development (GO:0055123)|embryonic digit morphogenesis (GO:0042733)|establishment of protein localization (GO:0045184)|glomerular visceral epithelial cell migration (GO:0090521)|kidney development (GO:0001822)|palate development (GO:0060021)|regulation of embryonic cell shape (GO:0016476)|regulation of establishment of cell polarity (GO:2000114)|regulation of fibroblast migration (GO:0010762)|regulation of focal adhesion assembly (GO:0051893)|regulation of protein localization (GO:0032880)|regulation of ruffle assembly (GO:1900027)|respiratory system development (GO:0060541)|septin cytoskeleton organization (GO:0032185)|smoothened signaling pathway (GO:0007224)	axonemal basal plate (GO:0097541)|axoneme (GO:0005930)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(19)|ovary(1)|skin(1)	35						CTCCAGCTGCGGCCCAGAAAG	0.493																																						ENST00000409562.3																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(19)|ovary(1)|skin(1)	35						c.(430-432)cCg>cTg		WD repeat containing planar cell polarity effector							116	114	114					2																	63666959		1949	4157	6106	SO:0001583	missense	51057				cilium morphogenesis|regulation of embryonic cell shape|regulation of protein localization|septin cytoskeleton organization	cilium axoneme|cytoplasm|cytoskeleton|plasma membrane		g.chr2:63666959G>A		CCDS42688.1, CCDS46301.1	2p15	2014-04-24	2011-02-01	2011-02-01	ENSG00000143951	ENSG00000143951			28027	protein-coding gene	gene with protein product		613580	"chromosome 2 open reading frame 86"	C2orf86		15654087, 20671153	Standard	NM_015910		Approved	hFrtz, fritz, BBS15	uc002sch.3	O95876	OTTHUMG00000152566	ENST00000272321.7:c.431C>T	2.37:g.63666959G>A	ENSP00000272321:p.Pro144Leu					WDPCP_ENST00000272321.7_Missense_Mutation_p.P144L|WDPCP_ENST00000409835.1_5'UTR|WDPCP_ENST00000409120.1_5'UTR|WDPCP_ENST00000409199.1_Intron	p.P144L			O95876	FRITZ_HUMAN			7	677	-			144					Q53RW4|Q7Z2Z3	Missense_Mutation	SNP	ENST00000272321.7	37	c.431C>T	CCDS42688.1	.	.	.	.	.	.	.	.	.	.	G	16.15	3.040721	0.55003	.	.	ENSG00000143951	ENST00000272321;ENST00000409562	T;T	0.50548	0.74;0.74	5.26	5.26	0.73747	.	0.065060	0.64402	D	0.000009	T	0.58566	0.2131	L	0.53249	1.67	0.51482	D	0.999924	D;P	0.67145	0.996;0.692	P;B	0.54100	0.742;0.142	T	0.59648	-0.7415	10	0.49607	T	0.09	-3.572	18.8672	0.92298	0.0:0.0:1.0:0.0	.	144;144	O95876-2;O95876	.;FRITZ_HUMAN	L	144	ENSP00000272321:P144L;ENSP00000387222:P144L	ENSP00000272321:P144L	P	-	2	0	WDPCP	63520463	1.000000	0.71417	0.936000	0.37596	0.948000	0.59901	7.500000	0.81588	2.462000	0.83206	0.655000	0.94253	CCG		0.493	WDPCP-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326820.1	NM_015910		14	62	0	0	0	1	0	14	62					A	63666959	G	A	63666959	3	1	393	1	0	0	0	0	1	0	0	0	2201	1116	39	2	1883	2	C2orf86	2	63666959	Missense_Mutation	SNP	G	TCGA-V1-A9Z8-01A-11D-A41K-08		63666959	179532414	9	19238											
SLC9A2	6549	broad.mit.edu	37	chr2	103318897	103318897	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaaaaaataaggaaggtcaCgtccagtgaaactgatgaaa	20	6	10	5	1	1	4	1	3	0	1	2	5	2	5	1	2	1	0	1	2	7	1			TCGA-V1-A9Z8-01A-11D-A41K-08	TCGA-V1-A9Z8-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a82201da-16d7-42b1-860d-3d11fd33f502	9d1b2c85-05c5-4720-bbbc-07aaad25033e	g.chr2:103318897C>A	ENST00000233969.2	+	9	1923	c.1781C>A	c.(1780-1782)aCg>aAg	p.T594K	SLC9A2_ENST00000469286.1_3'UTR	NM_003048.3	NP_003039.2	Q9UBY0	SL9A2_HUMAN	solute carrier family 9, subfamily A (NHE2, cation proton antiporter 2), member 2	594					ion transport (GO:0006811)|protein localization (GO:0008104)|regulation of pH (GO:0006885)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium:proton antiporter activity (GO:0015385)			breast(5)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42						AGGAAGGTCACGTCCAGTGAA	0.303																																						ENST00000233969.2																			0				breast(5)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42						c.(1780-1782)aCg>aAg		solute carrier family 9, subfamily A (NHE2, cation proton antiporter 2), member 2							74	81	79					2																	103318897		2203	4300	6503	SO:0001583	missense	6549					integral to membrane|plasma membrane	sodium:hydrogen antiporter activity	g.chr2:103318897C>A		CCDS2062.1	2q11.2	2013-05-22	2012-03-22		ENSG00000115616	ENSG00000115616		"Solute carriers"	11072	protein-coding gene	gene with protein product		600530	"solute carrier family 9 (sodium/hydrogen exchanger), isoform 2", "solute carrier family 9 (sodium/hydrogen exchanger), member 2"	NHE2			Standard	NM_003048		Approved		uc002tca.3	Q9UBY0	OTTHUMG00000130778	ENST00000233969.2:c.1781C>A	2.37:g.103318897C>A	ENSP00000233969:p.Thr594Lys					SLC9A2_ENST00000469286.1_3'UTR	p.T594K	NM_003048.3	NP_003039.2	Q9UBY0	SL9A2_HUMAN			9	1923	+			594					B2RMS2	Missense_Mutation	SNP	ENST00000233969.2	37	c.1781C>A	CCDS2062.1	.	.	.	.	.	.	.	.	.	.	C	8.995	0.978705	0.18812	.	.	ENSG00000115616	ENST00000233969	T	0.50001	0.76	5.73	5.73	0.89815	.	0.526559	0.16735	U	0.201685	T	0.28962	0.0719	N	0.14661	0.345	0.33462	D	0.585048	P	0.40794	0.729	B	0.34873	0.191	T	0.29971	-0.9994	10	0.13470	T	0.59	.	15.4929	0.75624	0.139:0.861:0.0:0.0	.	594	Q9UBY0	SL9A2_HUMAN	K	594	ENSP00000233969:T594K	ENSP00000233969:T594K	T	+	2	0	SLC9A2	102685329	0.979000	0.34478	0.986000	0.45419	0.012000	0.07955	3.672000	0.54583	2.713000	0.92767	0.591000	0.81541	ACG		0.303	SLC9A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253292.2			5	79	1	0	0.000602214	1	0.000627841	5	79					A	103318897	C	A	103318897	3	1	393	1	0	0	0	0	1	0	0	0	14712	536	19	5	1815	5	SLC9A2	2	103318897	Missense_Mutation	SNP	C	TCGA-V1-A9Z8-01A-11D-A41K-08	39651938	103318897	139880476	10	19239											
ST6GAL2	84620	broad.mit.edu	37	chr2	107460268	107460268	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	catgatggcccgctgcttccCctgcaccggcaggagcctcc	5	7	11	18	2	0	1	0	1	0	0	2	2	2	2	6	3	3	4	6	3	0	1			TCGA-V1-A9Z8-01A-11D-A41K-08	TCGA-V1-A9Z8-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a82201da-16d7-42b1-860d-3d11fd33f502	9d1b2c85-05c5-4720-bbbc-07aaad25033e	g.chr2:107460268C>T	ENST00000409382.3	-	2	776	c.166G>A	c.(166-168)Ggg>Agg	p.G56R	ST6GAL2_ENST00000361686.4_Missense_Mutation_p.G56R|ST6GAL2_ENST00000409087.3_Missense_Mutation_p.G56R|AC016994.2_ENST00000425419.1_RNA	NM_001142351.1	NP_001135823.1	Q96JF0	SIAT2_HUMAN	ST6 beta-galactosamide alpha-2,6-sialyltranferase 2	56					growth (GO:0040007)|multicellular organismal development (GO:0007275)|oligosaccharide metabolic process (GO:0009311)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	beta-galactoside alpha-2,6-sialyltransferase activity (GO:0003835)			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(30)|ovary(5)|pancreas(6)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	65						CGCTGCTTCCCCTGCACCGGC	0.672																																						ENST00000409382.3																			0				autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(30)|ovary(5)|pancreas(6)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	65						c.(166-168)Ggg>Agg		ST6 beta-galactosamide alpha-2,6-sialyltranferase 2							15	19	18					2																	107460268		2192	4285	6477	SO:0001583	missense	84620				growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation	Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,6-sialyltransferase activity	g.chr2:107460268C>T	AB059555	CCDS2073.1, CCDS46380.1	2q11-q12	2008-02-05	2005-02-07	2005-02-07	ENSG00000144057	ENSG00000144057	2.4.99.2		10861	protein-coding gene	gene with protein product		608472	"sialyltransferase 2 (monosialoganglioside sialyltransferase)"	SIAT2			Standard	NM_032528		Approved	KIAA1877, St6gal2, St6GalII	uc002tdr.3	Q96JF0	OTTHUMG00000130923	ENST00000409382.3:c.166G>A	2.37:g.107460268C>T	ENSP00000386942:p.Gly56Arg					ST6GAL2_ENST00000361686.4_Missense_Mutation_p.G56R|ST6GAL2_ENST00000409087.3_Missense_Mutation_p.G56R	p.G56R	NM_001142351.1	NP_001135823.1	Q96JF0	SIAT2_HUMAN			2	776	-			56					D3DVK3|Q53QP4|Q86Y44|Q8IUG7|Q96HE4	Missense_Mutation	SNP	ENST00000409382.3	37	c.166G>A	CCDS2073.1	.	.	.	.	.	.	.	.	.	.	C	28.7	4.939125	0.92526	.	.	ENSG00000144057	ENST00000361686;ENST00000409382;ENST00000409087	T;T;T	0.39229	2.15;2.15;1.09	5.74	5.74	0.90152	.	0.098909	0.64402	D	0.000002	T	0.63873	0.2548	M	0.61703	1.905	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.81914	0.995;0.988	T	0.62459	-0.6850	10	0.52906	T	0.07	-38.2183	18.8932	0.92413	0.0:1.0:0.0:0.0	.	56;56	Q96JF0-2;Q96JF0	.;SIAT2_HUMAN	R	56	ENSP00000355273:G56R;ENSP00000386942:G56R;ENSP00000387332:G56R	ENSP00000355273:G56R	G	-	1	0	ST6GAL2	106826700	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	4.207000	0.58480	2.701000	0.92244	0.655000	0.94253	GGG		0.672	ST6GAL2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330065.1	NM_032528		5	19	0	0	0	1	0	5	19					T	107460268	C	T	107460268	3	4	393	1	0	0	0	0	1	0	0	0	15221	623	22	3	1530	3	ST6GAL2	2	107460268	Missense_Mutation	SNP	C	TCGA-V1-A9Z8-01A-11D-A41K-08	4141371	107460268	135739105	11	19240											
RAB6C	84084	broad.mit.edu	37	chr2	130738444	130738444	+	Silent	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcatcattgctgcctgtctcGtggaggtgatctattagctt	6	16	10	9	1	4	1	2	1	2	0	5	2	4	2	1	2	3	2	1	2	2	4			TCGA-V1-A9Z8-01A-11D-A41K-08	TCGA-V1-A9Z8-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a82201da-16d7-42b1-860d-3d11fd33f502	9d1b2c85-05c5-4720-bbbc-07aaad25033e	g.chr2:130738444G>C	ENST00000410061.2	+	1	1210	c.756G>C	c.(754-756)tcG>tcC	p.S252S	AC079776.7_ENST00000412425.1_RNA	NM_032144.2	NP_115520.2	Q9H0N0	RAB6C_HUMAN	RAB6C, member RAS oncogene family	252					cell cycle process (GO:0022402)|GTP catabolic process (GO:0006184)|protein transport (GO:0015031)|regulation of centrosome duplication (GO:0010824)|response to drug (GO:0042493)|small GTPase mediated signal transduction (GO:0007264)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			large_intestine(2)|lung(1)|skin(1)|urinary_tract(1)	5	Colorectal(110;0.1)					TGCCTGTCTCGTGGAGGTGAT	0.368																																						ENST00000410061.2																			0				large_intestine(2)|lung(1)|skin(1)|urinary_tract(1)	5						c.(754-756)tcG>tcC		RAB6C, member RAS oncogene family							84	85	85					2																	130738444		2141	4276	6417	SO:0001819	synonymous_variant	84084				protein transport|response to drug|small GTPase mediated signal transduction		GTP binding|GTPase activity	g.chr2:130738444G>C	AF124200	CCDS46408.1	2q21.1	2012-07-02			ENSG00000222014	ENSG00000222014		"RAB, member RAS oncogene"	16525	protein-coding gene	gene with protein product		612909				11054569, 17426708	Standard	NM_032144		Approved	WTH3	uc002tpx.1	Q9H0N0	OTTHUMG00000153487	ENST00000410061.2:c.756G>C	2.37:g.130738444G>C							p.S252S	NM_032144.2	NP_115520.2	Q9H0N0	RAB6C_HUMAN			1	1210	+	Colorectal(110;0.1)		252					Q53RU3|Q6FIF7|Q9P128	Silent	SNP	ENST00000410061.2	37	c.756G>C	CCDS46408.1																																																																																				0.368	RAB6C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331384.1	NM_032144		5	81	0	0	0	1	0	5	81					C	130738444	G	C	130738444	2	2	393	1	0	0	0	0	0	0	0	1	12953	1132	40	5		5	RAB6C	2	130738444	Silent	SNP	G	TCGA-V1-A9Z8-01A-11D-A41K-08	23278176	130738444	112460929	12	19241											
XIRP2	129446	broad.mit.edu	37	chr2	168104430	168104430	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atgccagttggaggaacttaCgacctttcaggggactttca	10	11	11	9	1	2	0	2	0	0	0	2	4	2	3	2	4	3	1	2	4	2	4			TCGA-V1-A9Z8-01A-11D-A41K-08	TCGA-V1-A9Z8-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a82201da-16d7-42b1-860d-3d11fd33f502	9d1b2c85-05c5-4720-bbbc-07aaad25033e	g.chr2:168104430C>T	ENST00000409195.1	+	9	6617	c.6528C>T	c.(6526-6528)taC>taT	p.Y2176Y	XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000295237.9_Silent_p.Y2176Y|XIRP2_ENST00000409273.1_Silent_p.Y1954Y|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000420519.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	2001	Pro-rich.				actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						GAGGAACTTACGACCTTTCAG	0.363																																						ENST00000409195.1																			0				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						c.(6526-6528)taC>taT		xin actin-binding repeat containing 2							41	39	40					2																	168104430		1843	4087	5930	SO:0001819	synonymous_variant	129446				actin cytoskeleton organization	cell junction	actin binding	g.chr2:168104430C>T	AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"myomaxin"	609778	"cardiomyopathy associated 3"	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409195.1:c.6528C>T	2.37:g.168104430C>T						XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409273.1_Silent_p.Y1954Y|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000295237.9_Silent_p.Y2176Y|XIRP2_ENST00000409728.1_Intron	p.Y2176Y	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN			9	6617	+			2001			Pro-rich.		A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Silent	SNP	ENST00000409195.1	37	c.6528C>T	CCDS42769.1																																																																																				0.363	XIRP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333547.1	NM_152381		12	48	0	0	0	1	0	12	48					T	168104430	C	T	168104430	2	4	393	1	0	0	0	0	0	0	0	1	17427	547	19	1		1	XIRP2	2	168104430	Silent	SNP	C	TCGA-V1-A9Z8-01A-11D-A41K-08	37365986	168104430	75094943	13	19242											
MSTN	2660	broad.mit.edu	37	chr2	190922014	190922014	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccacagcggtctactaccatCgctggaattttcccatatat	10	12	6	13	2	1	0	0	0	1	0	3	1	2	1	3	2	3	1	3	2	5	6			TCGA-V1-A9Z8-01A-11D-A41K-08	TCGA-V1-A9Z8-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a82201da-16d7-42b1-860d-3d11fd33f502	9d1b2c85-05c5-4720-bbbc-07aaad25033e	g.chr2:190922014C>T	ENST00000260950.4	-	3	1230	c.1098G>A	c.(1096-1098)gcG>gcA	p.A366A	C2orf88_ENST00000478197.1_Intron	NM_005259.2	NP_005250.1	O14793	GDF8_HUMAN	myostatin	366					cellular response to dexamethasone stimulus (GO:0071549)|muscle organ development (GO:0007517)|negative regulation of muscle hypertrophy (GO:0014741)|negative regulation of skeletal muscle tissue growth (GO:0048632)|ovulation cycle process (GO:0022602)|positive regulation of transcription, DNA-templated (GO:0045893)|response to electrical stimulus (GO:0051602)|response to estrogen (GO:0043627)|response to ethanol (GO:0045471)|response to gravity (GO:0009629)|response to heat (GO:0009408)|response to muscle activity (GO:0014850)|response to testosterone (GO:0033574)|skeletal muscle atrophy (GO:0014732)|skeletal muscle tissue regeneration (GO:0043403)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	growth factor activity (GO:0008083)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|receptor binding (GO:0005102)			endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|skin(1)	12			OV - Ovarian serous cystadenocarcinoma(117;0.000742)|Epithelial(96;0.0121)|all cancers(119;0.0395)			CTACTACCATCGCTGGAATTT	0.393																																						ENST00000260950.4																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|skin(1)	12						c.(1096-1098)gcG>gcA		myostatin							56	58	58					2																	190922014		2194	4291	6485	SO:0001819	synonymous_variant	2660				muscle organ development|positive regulation of transcription, DNA-dependent	extracellular space	cytokine activity|growth factor activity	g.chr2:190922014C>T	AF019627	CCDS2303.1	2q32.1	2014-09-17	2007-06-21	2007-06-21	ENSG00000138379	ENSG00000138379			4223	protein-coding gene	gene with protein product		601788	"growth differentiation factor 8"	GDF8		9288100, 10610713, 17003236	Standard	NM_005259		Approved		uc002urp.3	O14793	OTTHUMG00000132663	ENST00000260950.4:c.1098G>A	2.37:g.190922014C>T						C2orf88_ENST00000478197.1_Intron	p.A366A	NM_005259.2	NP_005250.1	O14793	GDF8_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.000742)|Epithelial(96;0.0121)|all cancers(119;0.0395)		3	1230	-			366					A1C2J7|A1C2K0|Q6B0H2	Silent	SNP	ENST00000260950.4	37	c.1098G>A	CCDS2303.1																																																																																				0.393	MSTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255917.2	NM_005259		5	43	0	0	0	1	0	5	43					T	190922014	C	T	190922014	2	4	393	1	0	0	0	0	0	0	0	1	9893	871	31	2		2	MSTN	2	190922014	Silent	SNP	C	TCGA-V1-A9Z8-01A-11D-A41K-08	22817584	190922014	52277359	14	19243											
CLK1	1195	broad.mit.edu	37	chr2	201722751	201722751	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cagaacttgtatttctgagcGagcagcttcacagtatctat	11	13	8	9	1	3	2	1	1	2	1	3	3	3	2	0	0	4	4	0	0	4	6			TCGA-V1-A9Z8-01A-11D-A41K-08	TCGA-V1-A9Z8-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a82201da-16d7-42b1-860d-3d11fd33f502	9d1b2c85-05c5-4720-bbbc-07aaad25033e	g.chr2:201722751G>A	ENST00000321356.4	-	6	745	c.610C>T	c.(610-612)Cgc>Tgc	p.R204C	CLK1_ENST00000434813.2_Missense_Mutation_p.R246C|CLK1_ENST00000409769.2_Missense_Mutation_p.R27C|CLK1_ENST00000492793.1_5'Flank	NM_004071.3	NP_004062.2	P49759	CLK1_HUMAN	CDC-like kinase 1	204	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell proliferation (GO:0008283)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|protein autophosphorylation (GO:0046777)|regulation of RNA splicing (GO:0043484)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)			NS(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(12)|ovary(1)|pancreas(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	33						ATTTCTGAGCGAGCAGCTTCA	0.368																																						ENST00000434813.2																			0				NS(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(12)|ovary(1)|pancreas(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	33						c.(736-738)Cgc>Tgc		CDC-like kinase 1							170	162	165					2																	201722751		2202	4300	6502	SO:0001583	missense	1195				cell proliferation	nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein serine/threonine kinase activity	g.chr2:201722751G>A	L29219	CCDS2331.1, CCDS54427.1	2q33	2008-05-02			ENSG00000013441	ENSG00000013441		"CDC-like kinases"	2068	protein-coding gene	gene with protein product		601951				9856501	Standard	NM_004071		Approved		uc002uwe.2	P49759	OTTHUMG00000132784	ENST00000321356.4:c.610C>T	2.37:g.201722751G>A	ENSP00000326830:p.Arg204Cys					CLK1_ENST00000321356.4_Missense_Mutation_p.R204C|CLK1_ENST00000409769.2_Missense_Mutation_p.R27C	p.R246C	NM_001162407.1	NP_001155879.1	P49759	CLK1_HUMAN			6	1070	-			204			Protein kinase.		B4DFW7|Q0P694|Q8N5V8	Missense_Mutation	SNP	ENST00000321356.4	37	c.736C>T	CCDS2331.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.973405	0.74246	.	.	ENSG00000013441	ENST00000321356;ENST00000357369;ENST00000409769;ENST00000434813	T;T;T	0.66995	-0.24;-0.24;-0.24	5.71	4.82	0.62117	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.277896	0.37053	N	0.002263	T	0.74129	0.3676	L	0.58669	1.825	0.38636	D	0.951504	D;D;D;D	0.69078	0.997;0.985;0.985;0.993	P;P;P;P	0.58391	0.838;0.759;0.759;0.587	T	0.78360	-0.2234	10	0.87932	D	0	.	12.6513	0.56764	0.1306:0.0:0.8694:0.0	.	246;174;204;27	B4DFW7;E9PH13;P49759;B8ZZR0	.;.;CLK1_HUMAN;.	C	204;174;27;246	ENSP00000326830:R204C;ENSP00000386358:R27C;ENSP00000394734:R246C	ENSP00000326830:R204C	R	-	1	0	CLK1	201430996	0.447000	0.25673	1.000000	0.80357	0.998000	0.95712	1.051000	0.30417	2.697000	0.92050	0.563000	0.77884	CGC		0.368	CLK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256192.2			4	110	0	0	0	1	0	4	110					A	201722751	G	A	201722751	3	1	393	1	0	0	0	0	1	0	0	0	3536	1058	37	2	876	2	CLK1	2	201722751	Missense_Mutation	SNP	G	TCGA-V1-A9Z8-01A-11D-A41K-08	10800737	201722751	41476622	15	19244											
SP140L	93349	broad.mit.edu	37	chr2	231264887	231264887	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgtgccgggacggaggggagCtgttctgttgcgacacttgt	5	11	17	8	3	1	0	0	0	1	0	1	4	1	3	1	4	3	3	1	4	0	3			TCGA-V1-A9Z8-01A-11D-A41K-08	TCGA-V1-A9Z8-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a82201da-16d7-42b1-860d-3d11fd33f502	9d1b2c85-05c5-4720-bbbc-07aaad25033e	g.chr2:231264887C>G	ENST00000415673.2	+	15	1329	c.1243C>G	c.(1243-1245)Ctg>Gtg	p.L415V	SP140L_ENST00000243810.6_Missense_Mutation_p.L415V|SP140L_ENST00000444636.1_Missense_Mutation_p.L415V|SP140L_ENST00000396563.4_Missense_Mutation_p.L380V	NM_138402.4	NP_612411.4	Q9H930	SP14L_HUMAN	SP140 nuclear body protein-like	415						nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(7)|prostate(1)|skin(1)	20						CGGAGGGGAGCTGTTCTGTTG	0.502																																						ENST00000243810.6																			0				central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(7)|prostate(1)|skin(1)	20						c.(1243-1245)Ctg>Gtg		SP140 nuclear body protein-like							194	200	198					2																	231264887		2091	4242	6333	SO:0001583	missense	93349					nucleus	DNA binding|metal ion binding	g.chr2:231264887C>G	BC004921	CCDS46538.1	2q37.1	2013-01-28			ENSG00000185404	ENSG00000185404		"Zinc fingers, PHD-type"	25105	protein-coding gene	gene with protein product						12477932	Standard	NM_138402		Approved		uc010fxm.1	Q9H930	OTTHUMG00000153730	ENST00000415673.2:c.1243C>G	2.37:g.231264887C>G	ENSP00000397911:p.Leu415Val					SP140L_ENST00000415673.2_Missense_Mutation_p.L415V|SP140L_ENST00000396563.4_Missense_Mutation_p.L380V|SP140L_ENST00000444636.1_Missense_Mutation_p.L415V	p.L415V			Q9H930	LY10L_HUMAN			15	1243	+			415					Q2M375|Q4ZG65|Q9BSP3	Missense_Mutation	SNP	ENST00000415673.2	37	c.1243C>G	CCDS46538.1	.	.	.	.	.	.	.	.	.	.	C	10.19	1.281098	0.23392	.	.	ENSG00000185404	ENST00000444636;ENST00000415673;ENST00000243810;ENST00000396563	D;D;D;D	0.89343	-2.5;-2.5;-2.5;-2.5	3.33	2.44	0.29823	.	.	.	.	.	D	0.91891	0.7433	M	0.72894	2.215	0.22648	N	0.998896	D;D	0.59357	0.965;0.985	P;D	0.64321	0.753;0.924	T	0.82472	-0.0440	9	0.87932	D	0	.	6.8765	0.24149	0.0:0.8657:0.0:0.1343	.	380;415	Q9H930-2;Q9H930-4	.;.	V	415;415;415;380	ENSP00000395195:L415V;ENSP00000397911:L415V;ENSP00000243810:L415V;ENSP00000379811:L380V	ENSP00000243810:L415V	L	+	1	2	SP140L	230973131	0.034000	0.19679	0.290000	0.24890	0.205000	0.24178	0.432000	0.21461	0.729000	0.32403	0.313000	0.20887	CTG		0.502	SP140L-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374538.1	NM_138402		3	55	0	0	0	1	0	3	55					G	231264887	C	G	231264887	3	3	393	1	0	0	0	0	1	0	0	0	14963	796	28	5	1301	5	SP140L	2	231264887	Missense_Mutation	SNP	C	TCGA-V1-A9Z8-01A-11D-A41K-08	29542136	231264887	11934486	16	19245											
MED12L	116931	broad.mit.edu	37	chr3	151095894	151095894	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgctgaaagccgctggggaaGagctggagaagggacagcac	12	4	17	8	1	0	3	0	1	0	2	0	6	0	5	1	4	4	4	1	4	3	0			TCGA-V1-A9Z8-01A-11D-A41K-08	TCGA-V1-A9Z8-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a82201da-16d7-42b1-860d-3d11fd33f502	9d1b2c85-05c5-4720-bbbc-07aaad25033e	g.chr3:151095894G>C	ENST00000474524.1	+	29	4344	c.4306G>C	c.(4306-4308)Gag>Cag	p.E1436Q	MED12L_ENST00000273432.4_Missense_Mutation_p.E1296Q|P2RY12_ENST00000302632.3_Intron	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	1436						mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)			NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			CGCTGGGGAAGAGCTGGAGAA	0.537																																						ENST00000474524.1																			0				NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128						c.(4306-4308)Gag>Cag		mediator complex subunit 12-like							75	70	72					3																	151095894		2203	4300	6503	SO:0001583	missense	116931				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex		g.chr3:151095894G>C	AB046855, AF388364	CCDS33876.1	3q25.1	2007-07-30	2007-07-30		ENSG00000144893	ENSG00000144893			16050	protein-coding gene	gene with protein product		611318	"mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)-like"			11524702	Standard	XM_006713487		Approved	KIAA1635, TNRC11L, TRALPUSH, TRALP	uc003eyp.3	Q86YW9	OTTHUMG00000159844	ENST00000474524.1:c.4306G>C	3.37:g.151095894G>C	ENSP00000417235:p.Glu1436Gln					MED12L_ENST00000273432.4_Missense_Mutation_p.E1296Q|P2RY12_ENST00000302632.3_Intron	p.E1436Q	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)		29	4344	+			1436					Q96PC7|Q96PC8|Q9H9M5|Q9HCD7|Q9UI69	Missense_Mutation	SNP	ENST00000474524.1	37	c.4306G>C	CCDS33876.1	.	.	.	.	.	.	.	.	.	.	G	28.9	4.958620	0.92726	.	.	ENSG00000144893	ENST00000474524;ENST00000273432	T;T	0.29142	1.58;1.58	5.47	5.47	0.80525	.	0.000000	0.85682	D	0.000000	T	0.52386	0.1731	L	0.51422	1.61	0.80722	D	1	D;D;D	0.69078	0.997;0.996;0.993	D;D;D	0.75484	0.947;0.986;0.979	T	0.52586	-0.8556	10	0.87932	D	0	-29.4479	18.9274	0.92550	0.0:0.0:1.0:0.0	.	1296;1435;1436	F8WAE6;Q86YW9-4;Q86YW9	.;.;MD12L_HUMAN	Q	1436;1296	ENSP00000417235:E1436Q;ENSP00000273432:E1296Q	ENSP00000273432:E1296Q	E	+	1	0	MED12L	152578584	1.000000	0.71417	1.000000	0.80357	0.869000	0.49853	9.044000	0.93805	2.571000	0.86741	0.655000	0.94253	GAG		0.537	MED12L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357707.2	NM_053002		6	37	0	0	0	1	0	6	37					C	151095894	G	C	151095894	3	2	393	1	0	0	0	0	1	0	0	0	9429	943	33	5	4420	5	MED12L	3	151095894	Missense_Mutation	SNP	G	TCGA-V1-A9Z8-01A-11D-A41K-08		151095894	46926536	17	19246											
CYFIP2	26999	broad.mit.edu	37	chr5	156734872	156734872	+	Splice_Site	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	caaaattgataaattctttaAggtcagcaactggggctggg	13	11	11	6	0	2	1	1	1	1	0	2	1	2	1	0	4	2	2	0	4	6	5			TCGA-V1-A9Z8-01A-11D-A41K-08	TCGA-V1-A9Z8-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a82201da-16d7-42b1-860d-3d11fd33f502	9d1b2c85-05c5-4720-bbbc-07aaad25033e	g.chr5:156734872A>T	ENST00000521420.1	+	8	912	c.821A>T	c.(820-822)aAg>aTg	p.K274M	CYFIP2_ENST00000377576.3_Splice_Site_p.K300M|CYFIP2_ENST00000522463.1_Splice_Site_p.K104M|CYFIP2_ENST00000347377.6_Splice_Site_p.K300M|CYFIP2_ENST00000318218.6_Splice_Site_p.K300M|CYFIP2_ENST00000442283.2_5'UTR|CYFIP2_ENST00000541131.1_Splice_Site_p.K225M					cytoplasmic FMR1 interacting protein 2											breast(1)|endometrium(12)|kidney(2)|lung(23)	38	Renal(175;0.00212)	Medulloblastoma(196;0.0306)|all_neural(177;0.0897)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			AAATTCTTTAAGGTCAGCAAC	0.453																																						ENST00000347377.6																			0				breast(1)|endometrium(12)|kidney(2)|lung(23)	38						c.e9+1		cytoplasmic FMR1 interacting protein 2							38	37	37					5																	156734872		1828	4080	5908	SO:0001630	splice_region_variant	26999				apoptosis|cell-cell adhesion	cell junction|perinuclear region of cytoplasm|synapse|synaptosome	protein binding	g.chr5:156734872A>T	AF160973	CCDS75364.1	5q34	2008-07-18				ENSG00000055163			13760	protein-coding gene	gene with protein product	"p53 inducible protein"	606323				11438699	Standard	NM_001037333		Approved	PIR121	uc021ygm.1	Q96F07		ENST00000521420.1:c.822+1A>T	5.37:g.156734872A>T						CYFIP2_ENST00000377576.3_Splice_Site_p.K300_splice|CYFIP2_ENST00000318218.6_Splice_Site_p.K300_splice|CYFIP2_ENST00000521420.1_Splice_Site_p.K274_splice|CYFIP2_ENST00000541131.1_Splice_Site_p.K225_splice|CYFIP2_ENST00000442283.2_5'UTR|CYFIP2_ENST00000522463.1_Splice_Site_p.K104_splice	p.K300_splice	NM_001037332.2	NP_001032409.2	Q96F07	CYFP2_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		9	1330	+	Renal(175;0.00212)	Medulloblastoma(196;0.0306)|all_neural(177;0.0897)	300						Splice_Site	SNP	ENST00000521420.1	37	c.900_splice		.	.	.	.	.	.	.	.	.	.	A	28.8	4.953464	0.92660	.	.	ENSG00000055163	ENST00000318218;ENST00000522463;ENST00000521420;ENST00000347377;ENST00000377576;ENST00000541131	T;T;T;T;T;T	0.46451	0.87;1.56;0.87;0.87;0.87;0.87	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	T	0.65144	0.2663	M	0.73962	2.25	0.80722	D	1	D;D;D;D;D;D	0.89917	0.999;0.998;0.959;1.0;0.998;0.98	D;D;P;D;D;D	0.76575	0.988;0.954;0.717;0.98;0.97;0.948	T	0.69639	-0.5091	10	0.87932	D	0	-33.9391	15.6034	0.76642	1.0:0.0:0.0:0.0	.	164;104;274;300;300;300	A8MUM2;E7EW33;E7EVJ5;E7EVF4;Q96F07-2;Q96F07	.;.;.;.;.;CYFP2_HUMAN	M	300;104;274;300;300;225	ENSP00000325817:K300M;ENSP00000428009:K104M;ENSP00000430904:K274M;ENSP00000313567:K300M;ENSP00000366799:K300M;ENSP00000444645:K225M	ENSP00000325817:K300M	K	+	2	0	CYFIP2	156667450	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	9.288000	0.96055	2.094000	0.63399	0.459000	0.35465	AAG		0.453	CYFIP2-001	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000373710.1	NM_001037332	Missense_Mutation	4	4	0	0	0	1	0	4	4					T	156734872	A	T	156734872	5	4	393	1	0	0	0	0	0	0	1	0	4138	86	3	5	929	5	CYFIP2	5	156734872	Splice_Site	SNP	A	TCGA-V1-A9Z8-01A-11D-A41K-08		156734872	24180388	18	19247											
UBR2	23304	broad.mit.edu	37	chr6	42600572	42600572	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aattagcaaaccaactgaatGgtcagatgagctgaggcaga	16	7	11	7	0	1	5	1	3	0	2	1	5	1	5	1	2	4	3	1	2	5	1			TCGA-V1-A9Z8-01A-11D-A41K-08	TCGA-V1-A9Z8-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a82201da-16d7-42b1-860d-3d11fd33f502	9d1b2c85-05c5-4720-bbbc-07aaad25033e	g.chr6:42600572G>A	ENST00000372899.1	+	13	1733	c.1475G>A	c.(1474-1476)tGg>tAg	p.W492*	UBR2_ENST00000372883.3_5'UTR|UBR2_ENST00000372901.1_Nonsense_Mutation_p.W492*	NM_015255.2	NP_056070.1	Q8IWV8	UBR2_HUMAN	ubiquitin protein ligase E3 component n-recognin 2	492					cellular response to leucine (GO:0071233)|chromatin silencing (GO:0006342)|histone H2A ubiquitination (GO:0033522)|male meiosis I (GO:0007141)|negative regulation of TOR signaling (GO:0032007)|spermatogenesis (GO:0007283)|ubiquitin-dependent protein catabolic process (GO:0006511)	chromatin (GO:0000785)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ubiquitin ligase complex (GO:0000151)	leucine binding (GO:0070728)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(10)|kidney(7)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|skin(5)	64	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.004)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.196)			CCAACTGAATGGTCAGATGAG	0.333																																						ENST00000372899.1																			0				breast(1)|central_nervous_system(1)|endometrium(10)|kidney(7)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|skin(5)	64						c.(1474-1476)tGg>tAg		ubiquitin protein ligase E3 component n-recognin 2							89	87	87					6																	42600572		2203	4300	6503	SO:0001587	stop_gained	23304				cellular response to leucine|chromatin silencing|histone H2A ubiquitination|negative regulation of TOR signaling cascade	nucleus|plasma membrane	leucine binding|zinc ion binding	g.chr6:42600572G>A	BC024217	CCDS4870.1, CCDS55001.1	6p21.1	2008-06-23	2005-01-10	2005-01-12	ENSG00000024048	ENSG00000024048		"Ubiquitin protein ligase E3 component n-recognins"	21289	protein-coding gene	gene with protein product		609134	"chromosome 6 open reading frame 133"	C6orf133			Standard	NM_015255		Approved	bA49A4.1, dJ392M17.3, KIAA0349	uc011dur.2	Q8IWV8	OTTHUMG00000014703	ENST00000372899.1:c.1475G>A	6.37:g.42600572G>A	ENSP00000361990:p.Trp492*					UBR2_ENST00000372901.1_Nonsense_Mutation_p.W492*|UBR2_ENST00000372883.3_5'UTR	p.W492*	NM_015255.2	NP_056070.1	Q8IWV8	UBR2_HUMAN	Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.004)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.196)		13	1733	+	Colorectal(47;0.196)		492					O15057|Q4VXK2|Q5TFH6|Q6P2I2|Q6ZUD0	Nonsense_Mutation	SNP	ENST00000372899.1	37	c.1475G>A	CCDS4870.1	.	.	.	.	.	.	.	.	.	.	G	41	8.709232	0.98922	.	.	ENSG00000024048	ENST00000372899;ENST00000372901	.	.	.	5.09	5.09	0.68999	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.48119	T	0.1	-15.0597	18.8498	0.92224	0.0:0.0:1.0:0.0	.	.	.	.	X	492	.	ENSP00000361990:W492X	W	+	2	0	UBR2	42708550	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.416000	0.97383	2.496000	0.84212	0.655000	0.94253	TGG		0.333	UBR2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040558.2	NM_015255		10	27	0	0	0	1	0	10	27					A	42600572	G	A	42600572	4	1	393	1	0	0	0	0	0	1	0	0	16899	1357	47	3	1671	3	UBR2	6	42600572	Nonsense_Mutation	SNP	G	TCGA-V1-A9Z8-01A-11D-A41K-08		42600572	128514495	19	19248											
SIM1	6492	broad.mit.edu	37	chr6	100841761	100841761	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atctttctgtgtgaaatcccGaatactgaaaccgagtaggg	12	11	10	8	2	2	2	0	2	2	0	3	4	3	2	2	1	2	1	2	1	5	3			TCGA-V1-A9Z8-01A-11D-A41K-08	TCGA-V1-A9Z8-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a82201da-16d7-42b1-860d-3d11fd33f502	9d1b2c85-05c5-4720-bbbc-07aaad25033e	g.chr6:100841761G>A	ENST00000369208.3	-	11	1954	c.1172C>T	c.(1171-1173)tCg>tTg	p.S391L	SIM1_ENST00000262901.4_Missense_Mutation_p.S391L			P81133	SIM1_HUMAN	single-minded family bHLH transcription factor 1	391	Single-minded C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00632}.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)|ureteric bud development (GO:0001657)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	79		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0774)		GTGAAATCCCGAATACTGAAA	0.463																																						ENST00000369208.3																			0				breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	79						c.(1171-1173)tCg>tTg		single-minded family bHLH transcription factor 1							28	29	29					6																	100841761		2187	4257	6444	SO:0001583	missense	6492				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr6:100841761G>A	U70212	CCDS5045.1	6q16.3	2013-10-17	2013-10-17		ENSG00000112246	ENSG00000112246		"Basic helix-loop-helix proteins"	10882	protein-coding gene	gene with protein product		603128	"single-minded (Drosophila) homolog 1", "single-minded homolog 1 (Drosophila)"			9199934, 11448938	Standard	NM_005068		Approved	bHLHe14	uc003pqj.4	P81133	OTTHUMG00000015275	ENST00000369208.3:c.1172C>T	6.37:g.100841761G>A	ENSP00000358210:p.Ser391Leu					SIM1_ENST00000262901.4_Missense_Mutation_p.S391L	p.S391L			P81133	SIM1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0774)	11	1954	-		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)	391			Single-minded C-terminal.		Q5TDP7	Missense_Mutation	SNP	ENST00000369208.3	37	c.1172C>T	CCDS5045.1	.	.	.	.	.	.	.	.	.	.	G	35	5.548650	0.96488	.	.	ENSG00000112246	ENST00000369208;ENST00000262901	T;T	0.37915	1.17;1.17	5.6	5.6	0.85130	Single-minded, C-terminal (2);	0.175899	0.52532	D	0.000071	T	0.34164	0.0888	L	0.29908	0.895	0.58432	D	0.999996	D	0.55800	0.973	P	0.55345	0.774	T	0.03576	-1.1023	10	0.42905	T	0.14	.	19.6069	0.95585	0.0:0.0:1.0:0.0	.	391	P81133	SIM1_HUMAN	L	391	ENSP00000358210:S391L;ENSP00000262901:S391L	ENSP00000262901:S391L	S	-	2	0	SIM1	100948482	1.000000	0.71417	0.998000	0.56505	0.994000	0.84299	7.540000	0.82074	2.629000	0.89072	0.655000	0.94253	TCG		0.463	SIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041628.3	NM_005068		3	34	0	0	0	1	0	3	34					A	100841761	G	A	100841761	3	1	393	1	0	0	0	0	1	0	0	0	14323	1059	37	2	1136	2	SIM1	6	100841761	Missense_Mutation	SNP	G	TCGA-V1-A9Z8-01A-11D-A41K-08	58241189	100841761	70273306	20	19249											
PLXNA4	91584	broad.mit.edu	37	chr7	132192946	132192946	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	taggagacgatcactccaaaGactgagccgctctcgttgac	11	8	10	12	3	2	4	1	2	1	2	4	6	3	4	2	1	1	2	2	1	2	2			TCGA-V1-A9Z8-01A-11D-A41K-08	TCGA-V1-A9Z8-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a82201da-16d7-42b1-860d-3d11fd33f502	9d1b2c85-05c5-4720-bbbc-07aaad25033e	g.chr7:132192946G>C	ENST00000359827.3	-	2	1469	c.507C>G	c.(505-507)gtC>gtG	p.V169V	PLXNA4_ENST00000423507.2_Silent_p.V169V|PLXNA4_ENST00000321063.4_Silent_p.V169V|PLXNA4_ENST00000378539.5_Silent_p.V169V			Q9HCM2	PLXA4_HUMAN	plexin A4	169	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				anterior commissure morphogenesis (GO:0021960)|axon guidance (GO:0007411)|chemorepulsion of branchiomotor axon (GO:0021793)|facial nerve structural organization (GO:0021612)|glossopharyngeal nerve morphogenesis (GO:0021615)|postganglionic parasympathetic nervous system development (GO:0021784)|regulation of axon extension involved in axon guidance (GO:0048841)|regulation of negative chemotaxis (GO:0050923)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|sympathetic nervous system development (GO:0048485)|trigeminal nerve structural organization (GO:0021637)|vagus nerve morphogenesis (GO:0021644)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)			NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						TCACTCCAAAGACTGAGCCGC	0.547																																						ENST00000359827.3																			0				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						c.(505-507)gtC>gtG		plexin A4							109	98	102					7																	132192946		2203	4300	6503	SO:0001819	synonymous_variant	91584					integral to membrane|intracellular|plasma membrane		g.chr7:132192946G>C	AB046770, AK123428	CCDS5826.1, CCDS43646.1, CCDS43647.1	7q32.3	2007-09-26	2007-09-26	2007-09-26	ENSG00000221866	ENSG00000221866		"Plexins"	9102	protein-coding gene	gene with protein product		604280	"plexin A4, A", "plexin A4, B"	PLXNA4A, PLXNA4B			Standard	NM_181775		Approved	KIAA1550, DKFZp434G0625PRO34003, FAYV2820	uc003vra.4	Q9HCM2	OTTHUMG00000155108	ENST00000359827.3:c.507C>G	7.37:g.132192946G>C						PLXNA4_ENST00000321063.4_Silent_p.V169V|PLXNA4_ENST00000378539.5_Silent_p.V169V|PLXNA4_ENST00000423507.2_Silent_p.V169V	p.V169V			Q9HCM2	PLXA4_HUMAN			2	1469	-			169			Sema.		A4D1N6|E9PAM2|Q6UWC6|Q6ZW89|Q8N969|Q8ND00|Q8NEN3|Q9NTD4	Silent	SNP	ENST00000359827.3	37	c.507C>G	CCDS43646.1																																																																																				0.547	PLXNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338422.2	NM_181775		8	38	0	0	0	1	0	8	38					C	132192946	G	C	132192946	2	2	393	1	0	0	0	0	0	0	0	1	12122	929	33	5		5	PLXNA4	7	132192946	Silent	SNP	G	TCGA-V1-A9Z8-01A-11D-A41K-08		132192946	26945717	21	19250											
RP1	6101	broad.mit.edu	37	chr8	55541829	55541829	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	taatttggccccaggcccaaCgatggatgaactctcctctt	9	11	8	13	1	2	1	0	1	2	0	3	3	2	2	4	3	2	0	4	3	3	3			TCGA-V1-A9Z8-01A-11D-A41K-08	TCGA-V1-A9Z8-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a82201da-16d7-42b1-860d-3d11fd33f502	9d1b2c85-05c5-4720-bbbc-07aaad25033e	g.chr8:55541829C>T	ENST00000220676.1	+	4	5535	c.5387C>T	c.(5386-5388)aCg>aTg	p.T1796M		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	1796					axoneme assembly (GO:0035082)|cellular response to light stimulus (GO:0071482)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|photoreceptor cell outer segment organization (GO:0035845)|phototransduction, visible light (GO:0007603)|retinal cone cell development (GO:0046549)|retinal rod cell development (GO:0046548)|visual perception (GO:0007601)	axoneme (GO:0005930)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)	microtubule binding (GO:0008017)	p.T1796M(1)		NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			CCAGGCCCAACGATGGATGAA	0.448																																					Colon(91;1014 1389 7634 14542 40420)	ENST00000220676.1																			1	Substitution - Missense(1)	p.T1796M(1)	endometrium(1)	NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169						c.(5386-5388)aCg>aTg		retinitis pigmentosa 1 (autosomal dominant)							77	74	75					8																	55541829		2203	4300	6503	SO:0001583	missense	6101				axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding	g.chr8:55541829C>T	AF146592	CCDS6160.1	8q12.1	2013-01-08				ENSG00000104237			10263	protein-coding gene	gene with protein product		603937				1783394	Standard	NM_006269		Approved	DCDC4A	uc003xsd.1	P56715		ENST00000220676.1:c.5387C>T	8.37:g.55541829C>T	ENSP00000220676:p.Thr1796Met						p.T1796M	NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)		4	5535	+		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	1796						Missense_Mutation	SNP	ENST00000220676.1	37	c.5387C>T	CCDS6160.1	.	.	.	.	.	.	.	.	.	.	C	9.173	1.021724	0.19433	.	.	ENSG00000104237	ENST00000220676	T	0.21191	2.02	5.93	-7.18	0.01505	.	1.642690	0.03391	N	0.201882	T	0.15132	0.0365	L	0.36672	1.1	0.09310	N	1	B	0.31968	0.349	B	0.31191	0.125	T	0.23762	-1.0179	10	0.66056	D	0.02	.	7.0392	0.25010	0.1497:0.3819:0.3642:0.1042	.	1796	P56715	RP1_HUMAN	M	1796	ENSP00000220676:T1796M	ENSP00000220676:T1796M	T	+	2	0	RP1	55704382	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	0.201000	0.17276	-1.915000	0.01077	-2.053000	0.00404	ACG		0.448	RP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378532.2	NM_006269		10	16	0	0	0	1	0	10	16					T	55541829	C	T	55541829	3	4	393	1	0	0	0	0	1	0	0	0	13532	536	19	1	5397	1	RP1	8	55541829	Missense_Mutation	SNP	C	TCGA-V1-A9Z8-01A-11D-A41K-08		55541829	90822193	22	19251											
KCNQ3	3786	broad.mit.edu	37	chr8	133152366	133152366	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cagggtggggatcatgtcttCgatggggaagtcattcccat	8	11	14	8	1	3	0	2	0	1	0	5	3	4	2	1	5	0	0	1	5	1	2			TCGA-V1-A9Z8-01A-11D-A41K-08	TCGA-V1-A9Z8-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a82201da-16d7-42b1-860d-3d11fd33f502	9d1b2c85-05c5-4720-bbbc-07aaad25033e	g.chr8:133152366C>T	ENST00000388996.4	-	11	1945	c.1525G>A	c.(1525-1527)Gaa>Aaa	p.E509K	KCNQ3_ENST00000519445.1_Missense_Mutation_p.E509K|KCNQ3_ENST00000521134.1_Missense_Mutation_p.E389K	NM_004519.3	NP_004510.1	O43525	KCNQ3_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 3	509					axon guidance (GO:0007411)|membrane hyperpolarization (GO:0060081)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	axon initial segment (GO:0043194)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	70	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)		Amitriptyline(DB00321)|Diclofenac(DB00586)|Ezogabine(DB04953)|Meclofenamic acid(DB00939)	ATCATGTCTTCGATGGGGAAG	0.627																																						ENST00000388996.4																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	70						c.(1525-1527)Gaa>Aaa		potassium voltage-gated channel, KQT-like subfamily, member 3							70	72	71					8																	133152366		2203	4300	6503	SO:0001583	missense	3786				axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr8:133152366C>T	AB208890	CCDS34943.1, CCDS56554.1	8q24	2012-07-05			ENSG00000184156	ENSG00000184156		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6297	protein-coding gene	gene with protein product		602232		EBN2		9425900, 16382104	Standard	NM_004519		Approved	Kv7.3	uc003ytj.3	O43525	OTTHUMG00000137472	ENST00000388996.4:c.1525G>A	8.37:g.133152366C>T	ENSP00000373648:p.Glu509Lys					KCNQ3_ENST00000519445.1_Missense_Mutation_p.E509K|KCNQ3_ENST00000521134.1_Missense_Mutation_p.E389K	p.E509K	NM_004519.3	NP_004510.1	O43525	KCNQ3_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000311)		11	1945	-	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		509					A2VCT8|B4DJY4|E7EQ89	Missense_Mutation	SNP	ENST00000388996.4	37	c.1525G>A	CCDS34943.1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.345101	0.82022	.	.	ENSG00000184156	ENST00000388996;ENST00000521134;ENST00000519445;ENST00000542679;ENST00000423790	D;D;D	0.99691	-6.42;-6.42;-6.42	6.03	6.03	0.97812	Potassium channel, voltage dependent, KCNQ, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.99588	0.9851	M	0.72353	2.195	0.58432	D	0.999992	D;D	0.76494	0.999;0.999	P;P	0.61477	0.889;0.889	D	0.98650	1.0679	10	0.72032	D	0.01	-21.4578	19.545	0.95291	0.0:1.0:0.0:0.0	.	509;509	E7ET42;O43525	.;KCNQ3_HUMAN	K	509;389;509;498;388	ENSP00000373648:E509K;ENSP00000429799:E389K;ENSP00000428790:E509K	ENSP00000373648:E509K	E	-	1	0	KCNQ3	133221548	1.000000	0.71417	0.975000	0.42487	0.355000	0.29361	5.732000	0.68563	2.861000	0.98227	0.655000	0.94253	GAA		0.627	KCNQ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268621.2	NM_004519		16	13	0	0	0	1	0	16	13					T	133152366	C	T	133152366	3	4	393	1	0	0	0	0	1	0	0	0	8084	893	31	2	1113	2	KCNQ3	8	133152366	Missense_Mutation	SNP	C	TCGA-V1-A9Z8-01A-11D-A41K-08	77610537	133152366	13211656	23	19252											
RFX3	5991	broad.mit.edu	37	chr9	3330293	3330293	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cccgagttgtgtgtgtcactGagtgaccagaattctccatt	8	13	10	10	1	2	3	1	2	1	1	3	4	2	3	3	0	0	1	3	0	1	3			TCGA-V1-A9Z8-01A-11D-A41K-08	TCGA-V1-A9Z8-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a82201da-16d7-42b1-860d-3d11fd33f502	9d1b2c85-05c5-4720-bbbc-07aaad25033e	g.chr9:3330293G>A	ENST00000382004.3	-	5	751	c.440C>T	c.(439-441)tCa>tTa	p.S147L	RFX3_ENST00000302303.1_Missense_Mutation_p.S147L|RFX3_ENST00000358730.2_Missense_Mutation_p.S147L	NM_001282116.1|NM_134428.1	NP_001269045.1|NP_602304.1	P48380	RFX3_HUMAN	regulatory factor X, 3 (influences HLA class II expression)	147					cell maturation (GO:0048469)|cilium assembly (GO:0042384)|cilium-dependent cell motility (GO:0060285)|endocrine pancreas development (GO:0031018)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type B pancreatic cell development (GO:2000078)|regulation of insulin secretion (GO:0050796)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)|type B pancreatic cell maturation (GO:0072560)	nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(11)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	40				GBM - Glioblastoma multiforme(50;0.00124)|Lung(2;0.0337)		GTGTGTCACTGAGTGACCAGA	0.453																																						ENST00000382004.3																			0				central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(11)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	40						c.(439-441)tCa>tTa		regulatory factor X, 3 (influences HLA class II expression)							110	90	96					9																	3330293		2203	4300	6503	SO:0001583	missense	5991				cell maturation|ciliary cell motility|cilium assembly|cilium movement involved in determination of left/right asymmetry|endocrine pancreas development|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type B pancreatic cell development|regulation of insulin secretion	nuclear chromatin	protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding	g.chr9:3330293G>A	AI811824	CCDS6449.1, CCDS6450.1, CCDS75809.1	9p24.2	2008-02-05			ENSG00000080298	ENSG00000080298			9984	protein-coding gene	gene with protein product		601337				8289803	Standard	XM_005251534		Approved		uc003zhr.3	P48380	OTTHUMG00000019456	ENST00000382004.3:c.440C>T	9.37:g.3330293G>A	ENSP00000371434:p.Ser147Leu					RFX3_ENST00000302303.1_Missense_Mutation_p.S147L|RFX3_ENST00000358730.2_Missense_Mutation_p.S147L	p.S147L	NM_134428.1	NP_602304.1	P48380	RFX3_HUMAN		GBM - Glioblastoma multiforme(50;0.00124)|Lung(2;0.0337)	5	751	-			147					A8K0H5|D3DRH8|D3DRH9|Q5JTL7|Q5JTL8|Q6NW13|Q8WTU4|Q95HL5|Q95HL6	Missense_Mutation	SNP	ENST00000382004.3	37	c.440C>T	CCDS6449.1	.	.	.	.	.	.	.	.	.	.	G	16.92	3.255832	0.59321	.	.	ENSG00000080298	ENST00000382004;ENST00000381992;ENST00000358730;ENST00000302303;ENST00000457373;ENST00000451859;ENST00000442560;ENST00000420720;ENST00000381985	T;T;T;T;T;T;T	0.66638	0.26;0.24;0.24;-0.22;1.3;1.39;1.36	5.37	5.37	0.77165	.	0.319446	0.34411	N	0.003998	T	0.70482	0.3229	L	0.32530	0.975	0.40954	D	0.984564	B;P;B;B	0.50443	0.415;0.935;0.066;0.04	B;P;B;B	0.56042	0.101;0.79;0.048;0.04	T	0.68584	-0.5370	10	0.34782	T	0.22	-1.4531	19.0861	0.93203	0.0:0.0:1.0:0.0	.	147;147;147;147	B1ANP5;P48380-3;P48380-2;P48380	.;.;.;RFX3_HUMAN	L	147;147;147;147;147;147;108;108;147	ENSP00000371434:S147L;ENSP00000351574:S147L;ENSP00000303847:S147L;ENSP00000405664:S147L;ENSP00000411756:S147L;ENSP00000410988:S108L;ENSP00000416189:S108L	ENSP00000303847:S147L	S	-	2	0	RFX3	3320293	1.000000	0.71417	0.996000	0.52242	0.994000	0.84299	7.190000	0.77755	2.673000	0.90976	0.467000	0.42956	TCA		0.453	RFX3-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051545.1	NM_002919		5	50	0	0	0	1	0	5	50					A	3330293	G	A	3330293	3	1	393	1	0	0	0	0	1	0	0	0	13264	1294	45	3	2021	3	RFX3	9	3330293	Missense_Mutation	SNP	G	TCGA-V1-A9Z8-01A-11D-A41K-08		3330293	137883138	24	19253											
SPTAN1	6709	broad.mit.edu	37	chr9	131370160	131370160	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acagaaatcgatgccagggcTggcactttccaggcatttga	11	9	11	10	1	0	2	0	1	0	1	2	3	1	2	2	3	1	3	2	3	1	2			TCGA-V1-A9Z8-01A-11D-A41K-08	TCGA-V1-A9Z8-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a82201da-16d7-42b1-860d-3d11fd33f502	9d1b2c85-05c5-4720-bbbc-07aaad25033e	g.chr9:131370160T>G	ENST00000372731.4	+	33	4286	c.4176T>G	c.(4174-4176)gcT>gcG	p.A1392A	SPTAN1_ENST00000372739.3_Silent_p.A1392A|SPTAN1_ENST00000358161.5_Silent_p.A1392A	NM_001195532.1|NM_003127.3	NP_001182461.1|NP_003118.2	Q13813	SPTN1_HUMAN	spectrin, alpha, non-erythrocytic 1	1392					actin filament capping (GO:0051693)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)	cuticular plate (GO:0032437)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intracellular membrane-bounded organelle (GO:0043231)|lateral plasma membrane (GO:0016328)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|spectrin (GO:0008091)|vesicle (GO:0031982)|Z disc (GO:0030018)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						ATGCCAGGGCTGGCACTTTCC	0.537																																					NSCLC(120;833 1744 2558 35612 37579)	ENST00000372739.3																			0				NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						c.(4174-4176)gcT>gcG		spectrin, alpha, non-erythrocytic 1							71	64	66					9																	131370160		2203	4300	6503	SO:0001819	synonymous_variant	6709				actin filament capping|axon guidance|cellular component disassembly involved in apoptosis	cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin	actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton	g.chr9:131370160T>G	M19725	CCDS6905.1, CCDS48036.1, CCDS75914.1	9q34.11	2013-01-10	2012-06-15		ENSG00000197694	ENSG00000197694		"EF-hand domain containing"	11273	protein-coding gene	gene with protein product	"alpha-fodrin"	182810				3336352	Standard	NM_003127		Approved		uc004bvm.4	Q13813	OTTHUMG00000020754	ENST00000372731.4:c.4176T>G	9.37:g.131370160T>G						SPTAN1_ENST00000372731.4_Silent_p.A1392A|SPTAN1_ENST00000358161.5_Silent_p.A1392A	p.A1392A	NM_001130438.2	NP_001123910.1	Q13813	SPTA2_HUMAN			33	4286	+			1392					Q13186|Q15324|Q16606|Q59EF1|Q5VXV5|Q5VXV6|Q7Z6M5|Q9P0V0	Silent	SNP	ENST00000372731.4	37	c.4176T>G	CCDS6905.1																																																																																				0.537	SPTAN1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054472.1	NM_003127		7	57	0	0	0	1	0	7	57					G	131370160	T	G	131370160	2	3	393	1	0	0	0	0	0	0	0	1	15116	1567	55	5		5	SPTAN1	9	131370160	Silent	SNP	T	TCGA-V1-A9Z8-01A-11D-A41K-08	128039867	131370160	9843271	25	19254											
COL5A1	1289	broad.mit.edu	37	chr9	137622098	137622098	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ccaggagctgaccccgacccCcacggaagctgctcccatgc	8	4	10	19	2	0	1	0	1	0	0	1	4	1	3	6	2	4	3	6	2	1	0			TCGA-V1-A9Z8-01A-11D-A41K-08	TCGA-V1-A9Z8-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a82201da-16d7-42b1-860d-3d11fd33f502	9d1b2c85-05c5-4720-bbbc-07aaad25033e	g.chr9:137622098C>A	ENST00000371817.3	+	7	1355	c.941C>A	c.(940-942)cCc>cAc	p.P314H		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	314	Nonhelical region.				axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular fibril organization (GO:0043206)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|eye morphogenesis (GO:0048592)|heart morphogenesis (GO:0003007)|integrin biosynthetic process (GO:0045112)|negative regulation of endodermal cell differentiation (GO:1903225)|regulation of cellular component organization (GO:0051128)|skin development (GO:0043588)|tendon development (GO:0035989)|wound healing, spreading of epidermal cells (GO:0035313)	basement membrane (GO:0005604)|collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|proteoglycan binding (GO:0043394)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		ACCCCGACCCCCACGGAAGCT	0.642																																						ENST00000371817.3																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115						c.(940-942)cCc>cAc		collagen, type V, alpha 1							89	92	91					9																	137622098		2203	4300	6503	SO:0001583	missense	1289				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding	g.chr9:137622098C>A	D90279	CCDS6982.1, CCDS75932.1	9q34.2-q34.3	2014-09-17			ENSG00000130635	ENSG00000130635		"Collagens"	2209	protein-coding gene	gene with protein product	"alpha 1 type V collagen"	120215				1572660	Standard	NM_001278074		Approved		uc031tfl.1	P20908	OTTHUMG00000020891	ENST00000371817.3:c.941C>A	9.37:g.137622098C>A	ENSP00000360882:p.Pro314His						p.P314H	NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)	7	1355	+		Myeloproliferative disorder(178;0.0341)	314			Nonhelical region.		Q15094|Q5SUX4	Missense_Mutation	SNP	ENST00000371817.3	37	c.941C>A	CCDS6982.1	.	.	.	.	.	.	.	.	.	.	C	9.133	1.011863	0.19277	.	.	ENSG00000130635	ENST00000371817	D	0.90069	-2.61	4.37	3.45	0.39498	.	1.059630	0.07462	U	0.900878	D	0.85575	0.5728	L	0.40543	1.245	0.23577	N	0.997374	B	0.32918	0.39	B	0.33295	0.161	T	0.73858	-0.3850	10	0.51188	T	0.08	.	11.5754	0.50858	0.0:0.9078:0.0:0.0922	.	314	P20908	CO5A1_HUMAN	H	314	ENSP00000360882:P314H	ENSP00000360882:P314H	P	+	2	0	COL5A1	136761919	0.002000	0.14202	0.079000	0.20413	0.126000	0.20510	1.457000	0.35212	0.790000	0.33803	0.563000	0.77884	CCC		0.642	COL5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054954.2	NM_000093		11	87	1	0	3.86212e-05	1	4.301e-05	11	87					A	137622098	C	A	137622098	3	1	393	1	0	0	0	0	1	0	0	0	3696	623	22	5	967	5	COL5A1	9	137622098	Missense_Mutation	SNP	C	TCGA-V1-A9Z8-01A-11D-A41K-08	6251938	137622098	3591333	26	19255											
AGAP6	414189	broad.mit.edu	37	chr10	51754173	51754173	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agttgtagaaataagaagaaGcaactgtacaaaccatgtaa	20	8	8	5	0	0	3	0	0	0	3	0	3	0	3	1	0	4	5	1	0	9	5	rs569602183	byFrequency	TCGA-V1-A9Z8-01A-11D-A41K-08	TCGA-V1-A9Z8-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a82201da-16d7-42b1-860d-3d11fd33f502	9d1b2c85-05c5-4720-bbbc-07aaad25033e	g.chr10:51754173G>T	ENST00000374056.4	+	3	709	c.311G>T	c.(310-312)aGc>aTc	p.S104I	AGAP6_ENST00000412531.3_Missense_Mutation_p.S127I			Q5VW22	AGAP6_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 6	104					regulation of ARF GTPase activity (GO:0032312)		ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)	p.S127I(2)		NS(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(1)|lung(8)|prostate(3)|skin(1)|stomach(2)	29						ATAAGAAGAAGCAACTGTACA	0.269																																						ENST00000374056.4																			2	Substitution - Missense(2)	p.S127I(2)	prostate(1)|kidney(1)	NS(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(1)|lung(8)|prostate(3)|skin(1)|stomach(2)	29						c.(310-312)aGc>aTc		ArfGAP with GTPase domain, ankyrin repeat and PH domain 6							47	39	41					10																	51754173		692	1583	2275	SO:0001583	missense	414189				regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding	g.chr10:51754173G>T		CCDS44397.1	10q11.23	2013-01-10	2008-09-22	2008-09-22	ENSG00000204149	ENSG00000204149		"ADP-ribosylation factor GTPase activating proteins", "Pleckstrin homology (PH) domain containing", "Ankyrin repeat domain containing"	23466	protein-coding gene	gene with protein product			"centaurin, gamma-like family, member 3"	CTGLF3			Standard	NM_001077665		Approved	bA324H6.1	uc001jix.4	Q5VW22	OTTHUMG00000018220	ENST00000374056.4:c.311G>T	10.37:g.51754173G>T	ENSP00000363168:p.Ser104Ile					AGAP6_ENST00000412531.3_Missense_Mutation_p.S127I	p.S104I			C9IYN2	C9IYN2_HUMAN			3	709	+			127						Missense_Mutation	SNP	ENST00000374056.4	37	c.311G>T		.	.	.	.	.	.	.	.	.	.	G	3.288	-0.145481	0.06627	.	.	ENSG00000204149	ENST00000374056;ENST00000412531	D	0.88124	-2.34	1.7	0.742	0.18341	.	0.278236	0.34555	N	0.003870	D	0.82788	0.5113	M	0.75615	2.305	0.21020	N	0.99981	B	0.26935	0.164	B	0.19946	0.027	T	0.74839	-0.3528	10	0.72032	D	0.01	.	6.1199	0.20148	0.1849:0.0:0.8151:0.0	.	127	C9IYN2	.	I	127;104	ENSP00000400972:S104I	ENSP00000363168:S127I	S	+	2	0	AGAP6	51424179	1.000000	0.71417	0.936000	0.37596	0.258000	0.26162	1.038000	0.30254	0.263000	0.21812	0.184000	0.17185	AGC		0.269	AGAP6-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_001077665		4	49	1	0	0.184627	1	0.184627	4	49					T	51754173	G	T	51754173	3	4	393	1	0	0	0	0	1	0	0	0	372	971	34	5	394	5	AGAP6	10	51754173	Missense_Mutation	SNP	G	TCGA-V1-A9Z8-01A-11D-A41K-08		51754173	83780574	27	19256											
ITPRIP	85450	broad.mit.edu	37	chr10	106075183	106075183	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggtgtgaagggcacgaaaagGtggcacagcagtggcctgtc	10	6	17	8	1	0	1	0	1	0	0	1	2	0	1	1	5	1	3	1	5	3	0			TCGA-V1-A9Z8-01A-11D-A41K-08	TCGA-V1-A9Z8-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a82201da-16d7-42b1-860d-3d11fd33f502	9d1b2c85-05c5-4720-bbbc-07aaad25033e	g.chr10:106075183G>T	ENST00000337478.1	-	2	798	c.627C>A	c.(625-627)caC>caA	p.H209Q	ITPRIP_ENST00000358187.2_Missense_Mutation_p.H209Q|RP11-127L20.5_ENST00000472915.2_RNA|ITPRIP_ENST00000278071.2_Missense_Mutation_p.H209Q	NM_001272013.1	NP_001258942.1	Q8IWB1	IPRI_HUMAN	inositol 1,4,5-trisphosphate receptor interacting protein	209						membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(1)|endometrium(3)|large_intestine(5)|liver(1)|lung(9)|upper_aerodigestive_tract(1)	20						GCACGAAAAGGTGGCACAGCA	0.647																																						ENST00000278071.2																			0				breast(1)|endometrium(3)|large_intestine(5)|liver(1)|lung(9)|upper_aerodigestive_tract(1)	20						c.(625-627)caC>caA		inositol 1,4,5-trisphosphate receptor interacting protein							66	70	68					10																	106075183		2203	4300	6503	SO:0001583	missense	85450					plasma membrane		g.chr10:106075183G>T	AB051541	CCDS7557.1	10q25.1	2011-04-28	2011-04-28	2008-08-11	ENSG00000148841	ENSG00000148841			29370	protein-coding gene	gene with protein product			"KIAA1754", "inositol 1,4,5-triphosphate receptor interacting protein"	KIAA1754		11214970, 16990268	Standard	NM_001272012		Approved	bA127L20.2, DANGER	uc001kye.4	Q8IWB1	OTTHUMG00000019003	ENST00000337478.1:c.627C>A	10.37:g.106075183G>T	ENSP00000337178:p.His209Gln					ITPRIP_ENST00000337478.1_Missense_Mutation_p.H209Q|ITPRIP_ENST00000358187.2_Missense_Mutation_p.H209Q	p.H209Q	NM_033397.2	NP_203755.1	Q8IWB1	IPRI_HUMAN			3	1079	-			209					D3DRA5|Q5JU17|Q96MS8|Q9C0A9	Missense_Mutation	SNP	ENST00000337478.1	37	c.627C>A	CCDS7557.1	.	.	.	.	.	.	.	.	.	.	G	11.58	1.682261	0.29872	.	.	ENSG00000148841	ENST00000337478;ENST00000278071;ENST00000358187	T;T;T	0.21191	2.02;2.02;2.02	5.38	2.37	0.29283	.	0.424636	0.28031	N	0.016867	T	0.15782	0.0380	L	0.40543	1.245	0.28168	N	0.928698	B	0.06786	0.001	B	0.04013	0.001	T	0.15009	-1.0452	10	0.72032	D	0.01	-9.9143	6.761	0.23540	0.185:0.3112:0.5039:0.0	.	209	Q8IWB1	IPRI_HUMAN	Q	209	ENSP00000337178:H209Q;ENSP00000278071:H209Q;ENSP00000350915:H209Q	ENSP00000278071:H209Q	H	-	3	2	ITPRIP	106065173	1.000000	0.71417	0.780000	0.31762	0.877000	0.50540	0.739000	0.26173	0.259000	0.21709	0.563000	0.77884	CAC		0.647	ITPRIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050204.1	NM_033397		4	49	1	0	0.00909568	1	0.00928517	4	49					T	106075183	G	T	106075183	3	4	393	1	0	0	0	0	1	0	0	0	7923	1252	44	5	1020	5	ITPRIP	10	106075183	Missense_Mutation	SNP	G	TCGA-V1-A9Z8-01A-11D-A41K-08	54321010	106075183	29459564	28	19257											
NRAP	4892	broad.mit.edu	37	chr10	115391714	115391714	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgtcttctcccagccttcttTatacttaacctgacaaacaa	11	14	3	13	0	3	1	0	1	3	0	4	1	3	1	3	0	4	0	3	0	5	6			TCGA-V1-A9Z8-01A-11D-A41K-08	TCGA-V1-A9Z8-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a82201da-16d7-42b1-860d-3d11fd33f502	9d1b2c85-05c5-4720-bbbc-07aaad25033e	g.chr10:115391714T>C	ENST00000359988.3	-	17	1886	c.1642A>G	c.(1642-1644)Aaa>Gaa	p.K548E	NRAP_ENST00000369358.4_Missense_Mutation_p.K548E|NRAP_ENST00000369360.3_Missense_Mutation_p.K513E|NRAP_ENST00000360478.3_Missense_Mutation_p.K513E	NM_001261463.1|NM_198060.3	NP_001248392.1|NP_932326.2			nebulin-related anchoring protein									p.K548E(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Colorectal(252;0.0233)|Breast(234;0.188)		Epithelial(162;0.00392)|all cancers(201;0.00569)		CAGCCTTCTTTATACTTAACC	0.443																																						ENST00000369358.4																			1	Substitution - Missense(1)	p.K548E(1)	upper_aerodigestive_tract(1)	autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	95						c.(1642-1644)Aaa>Gaa		nebulin-related anchoring protein							105	99	101					10																	115391714		2203	4300	6503	SO:0001583	missense	4892					fascia adherens|muscle tendon junction	actin binding|muscle alpha-actinin binding|zinc ion binding	g.chr10:115391714T>C		CCDS7578.1, CCDS7579.1, CCDS73199.1	10q24-q26	2008-08-01			ENSG00000197893	ENSG00000197893			7988	protein-coding gene	gene with protein product		602873				12789664, 10320340	Standard	NM_006175		Approved		uc001lal.4	Q86VF7	OTTHUMG00000019072	ENST00000359988.3:c.1642A>G	10.37:g.115391714T>C	ENSP00000353078:p.Lys548Glu					NRAP_ENST00000360478.3_Missense_Mutation_p.K513E|NRAP_ENST00000369360.3_Missense_Mutation_p.K513E|NRAP_ENST00000359988.3_Missense_Mutation_p.K548E	p.K548E			Q86VF7	NRAP_HUMAN		Epithelial(162;0.00392)|all cancers(201;0.00569)	17	1886	-		Colorectal(252;0.0233)|Breast(234;0.188)	548						Missense_Mutation	SNP	ENST00000359988.3	37	c.1642A>G	CCDS7579.1	.	.	.	.	.	.	.	.	.	.	T	21.8	4.197781	0.79015	.	.	ENSG00000197893	ENST00000369358;ENST00000369360;ENST00000359988;ENST00000360478;ENST00000369350;ENST00000369343	T;T;T;T	0.69040	-0.37;-0.37;-0.37;-0.37	5.39	5.39	0.77823	.	0.096199	0.64402	D	0.000001	D	0.82669	0.5087	M	0.87547	2.89	0.32147	N	0.584733	P;P;P	0.43231	0.801;0.763;0.801	P;P;P	0.58391	0.73;0.749;0.838	D	0.87885	0.2680	10	0.87932	D	0	.	15.4565	0.75318	0.0:0.0:0.0:1.0	.	548;513;548	A0AVL2;Q86VF7-4;Q86VF7	.;.;NRAP_HUMAN	E	548;513;548;513;277;277	ENSP00000358365:K548E;ENSP00000358367:K513E;ENSP00000353078:K548E;ENSP00000353666:K513E	ENSP00000353078:K548E	K	-	1	0	NRAP	115381704	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.416000	0.80143	2.055000	0.61198	0.392000	0.25879	AAA		0.443	NRAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050425.2	NM_006175		6	24	0	0	0	1	0	6	24					C	115391714	T	C	115391714	3	2	393	1	0	0	0	0	1	0	0	0	10638	1763	61	4	3654	4	NRAP	10	115391714	Missense_Mutation	SNP	T	TCGA-V1-A9Z8-01A-11D-A41K-08	9316531	115391714	20143033	29	19258											
ECHS1	1892	broad.mit.edu	37	chr10	135180423	135180423	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggcgtcctgggctgagatccGgtcaccagtgaggaccatct	7	8	14	12	2	2	2	1	2	1	1	4	4	4	3	4	4	0	1	4	4	0	0			TCGA-V1-A9Z8-01A-11D-A41K-08	TCGA-V1-A9Z8-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a82201da-16d7-42b1-860d-3d11fd33f502	9d1b2c85-05c5-4720-bbbc-07aaad25033e	g.chr10:135180423G>A	ENST00000368547.3	-	5	944	c.589C>T	c.(589-591)Cgg>Tgg	p.R197W		NM_004092.3	NP_004083.3	P30084	ECHM_HUMAN	enoyl CoA hydratase, short chain, 1, mitochondrial	197				R -> A (in Ref. 1; BAA03001). {ECO:0000305}.	cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	enoyl-CoA hydratase activity (GO:0004300)			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|prostate(1)|skin(1)	10		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		all cancers(32;1.62e-06)|OV - Ovarian serous cystadenocarcinoma(35;5.75e-06)|Epithelial(32;7.58e-06)		GCTGAGATCCGGTCACCAGTG	0.667																																					GBM(132;1720 1771 5373 10277 21402)	ENST00000368547.3																			0				NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|prostate(1)|skin(1)	10						c.(589-591)Cgg>Tgg		enoyl CoA hydratase, short chain, 1, mitochondrial							74	59	64					10																	135180423		2203	4299	6502	SO:0001583	missense	1892				fatty acid beta-oxidation	mitochondrial matrix	enoyl-CoA hydratase activity|protein binding	g.chr10:135180423G>A		CCDS7681.1	10q26.2-q26.3	2010-05-04	2010-04-30		ENSG00000127884	ENSG00000127884	4.2.1.17		3151	protein-coding gene	gene with protein product		602292	"enoyl Coenzyme A hydratase, short chain, 1, mitochondrial"			8012501	Standard	NM_004092		Approved	SCEH	uc001lmu.3	P30084	OTTHUMG00000019320	ENST00000368547.3:c.589C>T	10.37:g.135180423G>A	ENSP00000357535:p.Arg197Trp						p.R197W	NM_004092.3	NP_004083.3	P30084	ECHM_HUMAN		all cancers(32;1.62e-06)|OV - Ovarian serous cystadenocarcinoma(35;5.75e-06)|Epithelial(32;7.58e-06)	5	944	-		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)	197	R -> A (in Ref. 1; BAA03001).				O00739|Q5VWY1|Q96H54	Missense_Mutation	SNP	ENST00000368547.3	37	c.589C>T	CCDS7681.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.119903	0.77323	.	.	ENSG00000127884	ENST00000368547	T	0.69685	-0.42	5.92	5.01	0.66863	Crotonase, core (1);	0.000000	0.85682	D	0.000000	T	0.78355	0.4270	M	0.73319	2.225	0.52099	D	0.99994	D	0.89917	1.0	D	0.65773	0.938	T	0.78966	-0.1995	10	0.46703	T	0.11	.	12.4754	0.55809	0.0:0.0:0.8327:0.1673	.	197	P30084	ECHM_HUMAN	W	197	ENSP00000357535:R197W	ENSP00000357535:R197W	R	-	1	2	ECHS1	135030413	1.000000	0.71417	1.000000	0.80357	0.923000	0.55619	1.308000	0.33528	1.489000	0.48450	0.650000	0.86243	CGG		0.667	ECHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051156.1			4	38	0	0	0	1	0	4	38					A	135180423	G	A	135180423	3	1	393	1	0	0	0	0	1	0	0	0	4896	1115	39	2	299	2	ECHS1	10	135180423	Missense_Mutation	SNP	G	TCGA-V1-A9Z8-01A-11D-A41K-08	19788709	135180423	354324	30	19259											
ANO5	203859	broad.mit.edu	37	chr11	22294405	22294405	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcttgctctcataaataataTtgtagagattcgagtggatg	12	15	9	5	1	2	1	1	0	2	1	4	4	2	2	0	1	1	2	0	1	5	7			TCGA-V1-A9Z8-01A-11D-A41K-08	TCGA-V1-A9Z8-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a82201da-16d7-42b1-860d-3d11fd33f502	9d1b2c85-05c5-4720-bbbc-07aaad25033e	g.chr11:22294405T>C	ENST00000324559.8	+	19	2422	c.2105T>C	c.(2104-2106)aTt>aCt	p.I702T	ANO5_ENST00000532043.1_3'UTR	NM_001142649.1|NM_213599.2	NP_001136121.1|NP_998764.1	Q75V66	ANO5_HUMAN	anoctamin 5	702					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	intracellular calcium activated chloride channel activity (GO:0005229)			breast(2)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(12)|lung(36)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						ATAAATAATATTGTAGAGATT	0.378																																						ENST00000324559.8																			0				breast(2)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(12)|lung(36)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						c.(2104-2106)aTt>aCt		anoctamin 5							128	117	121					11																	22294405		2203	4300	6503	SO:0001583	missense	203859					chloride channel complex|endoplasmic reticulum membrane	chloride channel activity	g.chr11:22294405T>C	AL833271	CCDS31444.1	11p15.1	2014-09-17	2008-08-28	2008-08-28	ENSG00000171714	ENSG00000171714		"Ion channels / Chloride channels : Calcium activated : Anoctamins"	27337	protein-coding gene	gene with protein product		608662	"transmembrane protein 16E", "limb girdle muscular dystrophy 2L (autosomal recessive)"	TMEM16E, LGMD2L		15067359, 20096397, 24692353	Standard	NM_213599		Approved	GDD1	uc001mqi.2	Q75V66	OTTHUMG00000166051	ENST00000324559.8:c.2105T>C	11.37:g.22294405T>C	ENSP00000315371:p.Ile702Thr					ANO5_ENST00000532043.1_3'UTR	p.I702T	NM_001142649.1|NM_213599.2	NP_001136121.1|NP_998764.1	Q75V66	ANO5_HUMAN			19	2422	+			702						Missense_Mutation	SNP	ENST00000324559.8	37	c.2105T>C	CCDS31444.1	.	.	.	.	.	.	.	.	.	.	t	25.3	4.624897	0.87560	.	.	ENSG00000171714	ENST00000324559	T	0.68331	-0.32	5.57	5.57	0.84162	.	0.088088	0.85682	D	0.000000	D	0.83691	0.5309	M	0.88105	2.93	0.80722	D	1	P	0.44877	0.845	P	0.61003	0.882	D	0.86288	0.1672	10	0.66056	D	0.02	.	16.0211	0.80493	0.0:0.0:0.0:1.0	.	702	Q75V66	ANO5_HUMAN	T	702	ENSP00000315371:I702T	ENSP00000315371:I702T	I	+	2	0	ANO5	22250981	1.000000	0.71417	0.316000	0.25252	0.993000	0.82548	7.988000	0.88194	2.240000	0.73641	0.529000	0.55759	ATT		0.378	ANO5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387615.1	NM_213599		15	56	0	0	0	1	0	15	56					C	22294405	T	C	22294405	3	2	393	1	0	0	0	0	1	0	0	0	700	1493	52	4	2179	4	ANO5	11	22294405	Missense_Mutation	SNP	T	TCGA-V1-A9Z8-01A-11D-A41K-08		22294405	112712111	31	19260											
CAPRIN2	65981	broad.mit.edu	37	chr12	30904042	30904042	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgctctccacttttcaggCgatccttataatcctccagt	8	14	6	13	1	2	0	1	0	1	0	6	2	5	0	4	1	1	1	4	1	2	4			TCGA-V1-A9Z8-01A-11D-A41K-08	TCGA-V1-A9Z8-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a82201da-16d7-42b1-860d-3d11fd33f502	9d1b2c85-05c5-4720-bbbc-07aaad25033e	g.chr12:30904042C>G	ENST00000395805.2	-	2	993	c.446G>C	c.(445-447)cGc>cCc	p.R149P	CAPRIN2_ENST00000251071.5_Missense_Mutation_p.R149P|CAPRIN2_ENST00000308433.5_5'UTR|CAPRIN2_ENST00000417045.1_Missense_Mutation_p.R149P|CAPRIN2_ENST00000298892.5_Missense_Mutation_p.R149P	NM_001206856.1	NP_001193785.1			caprin family member 2											breast(1)|central_nervous_system(1)|endometrium(8)|kidney(4)|large_intestine(13)|lung(16)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	48	all_lung(12;1.13e-09)|Lung NSC(12;7.98e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)					ACTTTTCAGGCGATCCTTATA	0.358																																						ENST00000251071.5																			0				breast(1)|central_nervous_system(1)|endometrium(8)|kidney(4)|large_intestine(13)|lung(16)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	48						c.(445-447)cGc>cCc		caprin family member 2							117	111	113					12																	30904042		2203	4300	6503	SO:0001583	missense	65981				negative regulation of cell growth|negative regulation of translation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of dendrite morphogenesis|positive regulation of dendritic spine morphogenesis|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein binding|positive regulation of transcription from RNA polymerase II promoter	mitochondrion|receptor complex	receptor binding|RNA binding	g.chr12:30904042C>G	AY074491	CCDS8720.1, CCDS41766.1, CCDS41766.2, CCDS55816.1	12p11	2010-08-03	2007-03-27	2007-03-27	ENSG00000110888	ENSG00000110888			21259	protein-coding gene	gene with protein product		610375	"C1q domain containing 1"	C1QDC1		11347906, 14764709	Standard	NM_001002259		Approved	EEG1, FLJ22569, FLJ11391, caprin-2, RNG140	uc001rji.1	Q6IMN6	OTTHUMG00000169185	ENST00000395805.2:c.446G>C	12.37:g.30904042C>G	ENSP00000379150:p.Arg149Pro					CAPRIN2_ENST00000417045.1_Missense_Mutation_p.R149P|CAPRIN2_ENST00000298892.5_Missense_Mutation_p.R149P|CAPRIN2_ENST00000395805.2_Missense_Mutation_p.R149P|CAPRIN2_ENST00000308433.5_5'UTR	p.R149P	NM_001002259.1|NM_032156.3	NP_001002259.1|NP_115532.3	Q6IMN6	CAPR2_HUMAN			2	1196	-	all_lung(12;1.13e-09)|Lung NSC(12;7.98e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)		149						Missense_Mutation	SNP	ENST00000395805.2	37	c.446G>C	CCDS55816.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.325011	0.81580	.	.	ENSG00000110888	ENST00000298892;ENST00000395805;ENST00000251071;ENST00000417045;ENST00000537108;ENST00000542550;ENST00000540436;ENST00000540584	T;T;T;T;T;T;T;T	0.28255	1.62;1.62;1.62;1.62;1.62;1.62;1.62;1.62	5.22	5.22	0.72569	.	0.054553	0.64402	D	0.000001	T	0.49440	0.1557	L	0.39898	1.24	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.996;1.0;0.997;0.999	T	0.50491	-0.8822	10	0.72032	D	0.01	-0.4236	18.7497	0.91809	0.0:1.0:0.0:0.0	.	149;149;149;149	Q149P6;Q6IMN6-3;Q6IMN6;Q6IMN6-2	.;.;CAPR2_HUMAN;.	P	149;149;149;149;68;68;68;68	ENSP00000298892:R149P;ENSP00000379150:R149P;ENSP00000251071:R149P;ENSP00000391479:R149P;ENSP00000438010:R68P;ENSP00000443353:R68P;ENSP00000442295:R68P;ENSP00000441005:R68P	ENSP00000251071:R149P	R	-	2	0	CAPRIN2	30795309	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.116000	0.64661	2.425000	0.82216	0.462000	0.41574	CGC		0.358	CAPRIN2-004	PUTATIVE	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000403322.2	NM_023925		4	79	0	0	0	1	0	4	79					G	30904042	C	G	30904042	3	3	393	1	0	0	0	0	1	0	0	0	2636	768	27	5	3005	5	CAPRIN2	12	30904042	Missense_Mutation	SNP	C	TCGA-V1-A9Z8-01A-11D-A41K-08		30904042	102947853	32	19261											
TBX3	6926	broad.mit.edu	37	chr12	115118827	115118827	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ggggtcggccttaccagccaCcatccaccgagaattgtgaa	10	7	11	13	2	0	2	0	1	0	1	2	3	1	2	6	3	2	0	6	3	3	2			TCGA-V1-A9Z8-01A-11D-A41K-08	TCGA-V1-A9Z8-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a82201da-16d7-42b1-860d-3d11fd33f502	9d1b2c85-05c5-4720-bbbc-07aaad25033e	g.chr12:115118827C>A	ENST00000257566.3	-	2	903	c.514G>T	c.(514-516)Gtg>Ttg	p.V172L	TBX3_ENST00000349155.2_Missense_Mutation_p.V172L	NM_016569.3	NP_057653.3	O15119	TBX3_HUMAN	T-box 3	172					anterior/posterior axis specification, embryo (GO:0008595)|atrioventricular bundle cell differentiation (GO:0003167)|blood vessel development (GO:0001568)|branching involved in mammary gland duct morphogenesis (GO:0060444)|cardiac muscle cell fate commitment (GO:0060923)|cell aging (GO:0007569)|cellular senescence (GO:0090398)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|female genitalia development (GO:0030540)|follicle-stimulating hormone secretion (GO:0046884)|forelimb morphogenesis (GO:0035136)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|limbic system development (GO:0021761)|luteinizing hormone secretion (GO:0032275)|male genitalia development (GO:0030539)|mammary gland development (GO:0030879)|mammary placode formation (GO:0060596)|mesoderm morphogenesis (GO:0048332)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epithelial cell differentiation (GO:0030857)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|organ morphogenesis (GO:0009887)|outflow tract morphogenesis (GO:0003151)|palate development (GO:0060021)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell proliferation (GO:0008284)|positive regulation of stem cell proliferation (GO:2000648)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|sinoatrial node cell development (GO:0060931)|skeletal system development (GO:0001501)|specification of organ position (GO:0010159)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)|ventricular septum morphogenesis (GO:0060412)	nucleus (GO:0005634)	RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(5)|endometrium(1)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0574)		TTACCAGCCACCATCCACCGA	0.468																																						ENST00000349155.2																			0				breast(5)|endometrium(1)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						c.(514-516)Gtg>Ttg		T-box 3							112	111	112					12																	115118827		2203	4300	6503	SO:0001583	missense	6926				anterior/posterior axis specification, embryo|anti-apoptosis|cell aging|embryonic arm morphogenesis|embryonic digit morphogenesis|female genitalia development|follicle-stimulating hormone secretion|luteinizing hormone secretion|male genitalia development|mesoderm morphogenesis|negative regulation of myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle|positive regulation of cell proliferation|regulation of transcription from RNA polymerase II promoter|skeletal system development	nucleus	sequence-specific DNA binding	g.chr12:115118827C>A	BC025258	CCDS9175.1, CCDS9176.1	12q24.21	2013-09-05	2008-07-31		ENSG00000135111	ENSG00000135111		"T-boxes"	11602	protein-coding gene	gene with protein product		601621	"ulnar mammary syndrome"	UMS		8988164	Standard	NM_005996		Approved	TBX3-ISO, XHL	uc001tvt.1	O15119	OTTHUMG00000169586	ENST00000257566.3:c.514G>T	12.37:g.115118827C>A	ENSP00000257566:p.Val172Leu					TBX3_ENST00000257566.3_Missense_Mutation_p.V172L	p.V172L	NM_005996.3	NP_005987.3	O15119	TBX3_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.0574)	2	1477	-	Medulloblastoma(191;0.163)|all_neural(191;0.178)		172					Q8TB20|Q9UKF8	Missense_Mutation	SNP	ENST00000257566.3	37	c.514G>T	CCDS9176.1	.	.	.	.	.	.	.	.	.	.	C	36	5.947926	0.97134	.	.	ENSG00000135111	ENST00000349155;ENST00000257566;ENST00000361100	D;D	0.89939	-2.59;-2.59	5.81	5.81	0.92471	p53-like transcription factor, DNA-binding (1);	0.000000	0.85682	D	0.000000	D	0.95689	0.8598	M	0.89968	3.075	0.80722	D	1	B;D;D	0.69078	0.451;0.997;0.96	P;D;D	0.79784	0.795;0.993;0.958	D	0.95805	0.8836	10	0.66056	D	0.02	.	19.0715	0.93140	0.0:1.0:0.0:0.0	.	172;172;172	B4E3A6;O15119-2;O15119	.;.;TBX3_HUMAN	L	172	ENSP00000257567:V172L;ENSP00000257566:V172L	ENSP00000257566:V172L	V	-	1	0	TBX3	113603210	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	7.487000	0.81328	2.756000	0.94617	0.655000	0.94253	GTG		0.468	TBX3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000404947.2	NM_016569, NM_005996		14	62	1	0	2.61681e-11	1	2.98195e-11	14	62					A	115118827	C	A	115118827	3	1	393	1	0	0	0	0	1	0	0	0	15656	507	18	5	1745	5	TBX3	12	115118827	Missense_Mutation	SNP	C	TCGA-V1-A9Z8-01A-11D-A41K-08	84214785	115118827	18733068	33	19262											
CIT	11113	broad.mit.edu	37	chr12	120166306	120166306	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tcccaggtatttcacactcaCctcttccagaagcctctgtt	8	13	5	15	0	4	1	2	0	2	1	6	1	6	1	4	1	1	2	4	1	2	4			TCGA-V1-A9Z8-01A-11D-A41K-08	TCGA-V1-A9Z8-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a82201da-16d7-42b1-860d-3d11fd33f502	9d1b2c85-05c5-4720-bbbc-07aaad25033e	g.chr12:120166306C>T	ENST00000261833.7	-	27	3518		c.e27+1		CIT_ENST00000537607.1_Splice_Site|CIT_ENST00000392521.2_Splice_Site	NM_007174.2	NP_009105.1	O14578	CTRO_HUMAN	citron rho-interacting serine/threonine kinase						cytokinesis (GO:0000910)|dendrite development (GO:0016358)|G2/M transition of mitotic cell cycle (GO:0000086)|generation of neurons (GO:0048699)|Golgi organization (GO:0007030)|intracellular signal transduction (GO:0035556)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic nuclear division (GO:0007067)|mitotic sister chromatid segregation (GO:0000070)|negative regulation of dendrite morphogenesis (GO:0050774)|regulation of actin polymerization or depolymerization (GO:0008064)|spermatogenesis (GO:0007283)	actin cytoskeleton (GO:0015629)|Golgi cisterna (GO:0031985)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|vacuole (GO:0005773)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|PDZ domain binding (GO:0030165)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	86	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)		BRCA - Breast invasive adenocarcinoma(302;0.211)		TTCACACTCACCTCTTCCAGA	0.438																																						ENST00000392521.2																			0				breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	86						c.e28+1		citron (rho-interacting, serine/threonine kinase 21)							211	218	215					12																	120166306		2203	4300	6503	SO:0001630	splice_region_variant	11113				intracellular signal transduction		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding|small GTPase regulator activity	g.chr12:120166306C>T	AB023166	CCDS9192.1, CCDS55891.1	12q24.23	2014-04-23	2014-04-23		ENSG00000122966	ENSG00000122966			1985	protein-coding gene	gene with protein product	"serine/threonine kinase 21"	605629	"citron (rho-interacting, serine/threonine kinase 21)"			9792683	Standard	NM_001206999		Approved	KIAA0949, STK21, CRIK	uc001txj.2	O14578	OTTHUMG00000134325	ENST00000261833.7:c.3465+1G>A	12.37:g.120166306C>T						CIT_ENST00000537607.1_Splice_Site|CIT_ENST00000261833.7_Splice_Site		NM_001206999.1	NP_001193928.1	O14578	CTRO_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.211)	28	3647	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)						Q2M5E1|Q6XUH8|Q86UQ9|Q9UPZ7	Splice_Site	SNP	ENST00000261833.7	37		CCDS9192.1	.	.	.	.	.	.	.	.	.	.	C	29.8	5.039417	0.93630	.	.	ENSG00000122966	ENST00000392521;ENST00000261833;ENST00000392520	.	.	.	5.59	5.59	0.84812	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.5949	0.95533	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CIT	118650689	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	7.570000	0.82390	2.641000	0.89580	0.655000	0.94253	.		0.438	CIT-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000259410.4	NM_007174	Intron	8	244	0	0	0	1	0	8	244					T	120166306	C	T	120166306	5	4	393	1	0	0	0	0	0	0	1	0	3438	521	18	3	2701	3	CIT	12	120166306	Splice_Site	SNP	C	TCGA-V1-A9Z8-01A-11D-A41K-08	5047479	120166306	13685589	34	19263											
RB1	5925	broad.mit.edu	37	chr13	48941695	48941696	+	Frame_Shift_Ins	INS	-	-	T																															aagatctagatgcaagattaINStttttggatcatgataaaac																										TCGA-V1-A9Z8-01A-11D-A41K-08	TCGA-V1-A9Z8-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a82201da-16d7-42b1-860d-3d11fd33f502	9d1b2c85-05c5-4720-bbbc-07aaad25033e	g.chr13:48941695_48941696insT	ENST00000267163.4	+	10	1143_1144	c.1005_1006insT	c.(1006-1008)tttfs	p.F336fs		NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1	336					androgen receptor signaling pathway (GO:0030521)|cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|cell morphogenesis involved in neuron differentiation (GO:0048667)|chromatin remodeling (GO:0006338)|digestive tract development (GO:0048565)|enucleate erythrocyte differentiation (GO:0043353)|G1/S transition of mitotic cell cycle (GO:0000082)|glial cell apoptotic process (GO:0034349)|hepatocyte apoptotic process (GO:0097284)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|myoblast differentiation (GO:0045445)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0071930)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron apoptotic process (GO:0051402)|neuron maturation (GO:0042551)|neuron projection development (GO:0031175)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein localization to chromosome, centromeric region (GO:0071459)|Ras protein signal transduction (GO:0007265)|regulation of centromere complex assembly (GO:0090230)|regulation of cohesin localization to chromatin (GO:0071922)|regulation of lipid kinase activity (GO:0043550)|regulation of mitotic cell cycle (GO:0007346)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|sister chromatid biorientation (GO:0031134)|skeletal muscle cell differentiation (GO:0035914)|striated muscle cell differentiation (GO:0051146)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromatin (GO:0000785)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|Rb-E2F complex (GO:0035189)|spindle (GO:0005819)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|phosphoprotein binding (GO:0051219)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)	p.0?(15)|p.?(7)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	"""Insulin(DB00071)|Insulin Regular(DB00030)"	ATGCAAGATTATTTTTGGATCA	0.277		6	"D, Mis, N, F, S"		"retinoblastoma, sarcoma, breast, small cell lung"	"retinoblastoma, sarcoma, breast, small cell lung"			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)																												ENST00000267163.4		6	yes	Rec	yes	Familial retinoblastoma	13	13q14	5925	"D, Mis, N, F, S"	retinoblastoma gene			"L, E, M, O"		"retinoblastoma, sarcoma, breast, small cell lung"	"retinoblastoma, sarcoma, breast, small cell lung"		22	Whole gene deletion(15)|Unknown(7)	p.0?(15)|p.?(7)	bone(11)|breast(5)|adrenal_gland(1)|eye(1)|soft_tissue(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|endometrium(1)	NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496						c.(1003-1008)ttttttfs		retinoblastoma 1	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)																																			SO:0001589	frameshift_variant	5925	Hereditary Retinoblastoma	Familial Cancer Database		androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	g.chr13:48941695_48941696insT	M15400	CCDS31973.1	13q14.2	2014-09-17	2008-07-31		ENSG00000139687	ENSG00000139687		"Endogenous ligands"	9884	protein-coding gene	gene with protein product	"prepro-retinoblastoma-associated protein", "protein phosphatase 1, regulatory subunit 130"	614041	"osteosarcoma"	OSRC		1857421, 15057823	Standard	NM_000321		Approved	RB, PPP1R130	uc001vcb.3	P06400	OTTHUMG00000016900	ENST00000267163.4:c.1010dupT	13.37:g.48941700_48941700dupT	ENSP00000267163:p.Phe336fs	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)					p.FF335fs	NM_000321.2	NP_000312.2	P06400	RB_HUMAN		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	10	1143_1144	+		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)	335					A8K5E3|P78499|Q5VW46|Q8IZL4	Frame_Shift_Ins	INS	ENST00000267163.4	37	c.1005_1006insT	CCDS31973.1																																																																																				0.277	RB1-002	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000044884.1			27	90						27	90	---	---	---	---	T	48941696	-	T	48941695	7	5	393	1	0	1	1	0	0	0	0	0	13098	446	16	0	1043	0	RB1	13	48941695	Frame_Shift_Ins	INS	-	TCGA-V1-A9Z8-01A-11D-A41K-08		48941695	66228183	35	19264											
SIPA1L1	26037	broad.mit.edu	37	chr14	72055491	72055491	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tatttttcgtaaattgcgcaAtgccaaaggtgaagaacttg	13	13	9	6	2	0	2	0	1	0	1	1	2	0	2	1	1	3	2	1	1	7	6			TCGA-V1-A9Z8-01A-11D-A41K-08	TCGA-V1-A9Z8-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a82201da-16d7-42b1-860d-3d11fd33f502	9d1b2c85-05c5-4720-bbbc-07aaad25033e	g.chr14:72055491A>G	ENST00000555818.1	+	2	1250	c.902A>G	c.(901-903)aAt>aGt	p.N301S	SIPA1L1_ENST00000358550.2_Missense_Mutation_p.N301S|SIPA1L1_ENST00000381232.3_Missense_Mutation_p.N301S	NM_001284247.1|NM_015556.1	NP_001271176.1|NP_056371.1	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like 1	301					actin cytoskeleton reorganization (GO:0031532)|activation of Rap GTPase activity (GO:0032861)|ephrin receptor signaling pathway (GO:0048013)|regulation of axonogenesis (GO:0050770)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of Rap GTPase activity (GO:0032317)|regulation of synaptic plasticity (GO:0048167)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	GTPase activator activity (GO:0005096)			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		AAATTGCGCAATGCCAAAGGT	0.438																																						ENST00000555818.1																			0				NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78						c.(901-903)aAt>aGt		signal-induced proliferation-associated 1 like 1							67	71	70					14																	72055491		2203	4300	6503	SO:0001583	missense	26037				actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis	cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome	GTPase activator activity	g.chr14:72055491A>G	AB007900	CCDS9807.1, CCDS61490.1, CCDS61491.1	14q24.1	2003-12-11				ENSG00000197555			20284	protein-coding gene	gene with protein product						9858596	Standard	XM_005267514		Approved	KIAA0440, E6TP1	uc001xmr.1	O43166		ENST00000555818.1:c.902A>G	14.37:g.72055491A>G	ENSP00000450832:p.Asn301Ser					SIPA1L1_ENST00000358550.2_Missense_Mutation_p.N301S|SIPA1L1_ENST00000381232.3_Missense_Mutation_p.N301S	p.N301S	NM_015556.1	NP_056371.1	O43166	SI1L1_HUMAN		all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)	2	1250	+			301					J3KP19|O95321|Q9UDU4|Q9UNU4	Missense_Mutation	SNP	ENST00000555818.1	37	c.902A>G	CCDS9807.1	.	.	.	.	.	.	.	.	.	.	A	2.117	-0.402303	0.04865	.	.	ENSG00000197555	ENST00000381232;ENST00000555818;ENST00000358550	T;T;T	0.39787	1.06;1.06;1.06	6.07	6.07	0.98685	.	0.078520	0.85682	D	0.000000	T	0.23572	0.0570	N	0.05383	-0.06	0.80722	D	1	B;B;B	0.25521	0.025;0.104;0.128	B;B;B	0.24155	0.02;0.051;0.039	T	0.13308	-1.0514	10	0.07175	T	0.84	-34.3801	16.6406	0.85098	1.0:0.0:0.0:0.0	.	301;301;301	A6H8W6;O43166-2;O43166	.;.;SI1L1_HUMAN	S	301	ENSP00000370630:N301S;ENSP00000450832:N301S;ENSP00000351352:N301S	ENSP00000351352:N301S	N	+	2	0	SIPA1L1	71125244	1.000000	0.71417	1.000000	0.80357	0.862000	0.49288	5.638000	0.67861	2.326000	0.78906	0.533000	0.62120	AAT		0.438	SIPA1L1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412806.1	NM_015556		14	40	0	0	0	1	0	14	40					G	72055491	A	G	72055491	3	3	393	1	0	0	0	0	1	0	0	0	14329	101	4	4	904	4	SIPA1L1	14	72055491	Missense_Mutation	SNP	A	TCGA-V1-A9Z8-01A-11D-A41K-08		72055491	35294049	36	19265											
CORO7	79585	broad.mit.edu	37	chr16	4408455	4408455	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agctccacttcccgcacgtcGcactccgtcttaggcaggag	7	8	10	16	4	1	0	0	0	1	0	5	1	4	1	3	2	1	4	3	2	1	2			TCGA-V1-A9Z8-01A-11D-A41K-08	TCGA-V1-A9Z8-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a82201da-16d7-42b1-860d-3d11fd33f502	9d1b2c85-05c5-4720-bbbc-07aaad25033e	g.chr16:4408455G>A	ENST00000251166.4	-	24	2515	c.2370C>T	c.(2368-2370)tgC>tgT	p.C790C	CORO7_ENST00000539968.1_Silent_p.C570C|CORO7-PAM16_ENST00000572467.1_Silent_p.C790C|CORO7-PAM16_ENST00000572274.1_5'UTR|CORO7_ENST00000574025.1_Silent_p.C705C|CORO7_ENST00000537233.2_Silent_p.C772C|PAM16_ENST00000576217.1_5'Flank	NM_024535.4	NP_078811.3	P57737	CORO7_HUMAN	coronin 7	790					actin filament polymerization (GO:0030041)|Golgi to endosome transport (GO:0006895)|protein transport (GO:0015031)	cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|trans-Golgi network (GO:0005802)	actin binding (GO:0003779)	p.C790C(1)		breast(3)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(8)|prostate(2)|skin(2)|urinary_tract(2)	23						CCCGCACGTCGCACTCCGTCT	0.692																																						ENST00000251166.4																			1	Substitution - coding silent(1)	p.C790C(1)	prostate(1)	breast(3)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(8)|prostate(2)|skin(2)|urinary_tract(2)	23						c.(2368-2370)tgC>tgT		coronin 7							37	39	39					16																	4408455		2195	4298	6493	SO:0001819	synonymous_variant	79585							g.chr16:4408455G>A	AK097238	CCDS10513.1, CCDS55982.1, CCDS58417.1	16p13.3	2013-01-10			ENSG00000262246	ENSG00000262246		"Coronins", "WD repeat domain containing"	26161	protein-coding gene	gene with protein product		611668				15327992	Standard	NM_024535		Approved	FLJ22021		P57737	OTTHUMG00000129465	ENST00000251166.4:c.2370C>T	16.37:g.4408455G>A						CORO7-PAM16_ENST00000572274.1_5'UTR|CORO7_ENST00000574025.1_Silent_p.C705C|CORO7_ENST00000537233.2_Silent_p.C772C|CORO7-PAM16_ENST00000572467.1_Silent_p.C790C|CORO7_ENST00000539968.1_Silent_p.C570C	p.C790C	NM_024535.4	NP_078811.3					24	2515	-								B4DFD6|B4DL18|I3L416|Q17RK4	Silent	SNP	ENST00000251166.4	37	c.2370C>T	CCDS10513.1																																																																																				0.692	CORO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251628.2	NM_024535		3	23	0	0	0	1	0	3	23					A	4408455	G	A	4408455	2	1	393	1	0	0	0	0	0	0	0	1	3759	1079	38	1		1	CORO7	16	4408455	Silent	SNP	G	TCGA-V1-A9Z8-01A-11D-A41K-08		4408455	85946298	37	19266											
GEMIN4	50628	broad.mit.edu	37	chr17	650797	650797	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcatcacctcccaccagacGtccaggaagaaggccacgtc	11	6	8	16	2	2	2	2	0	0	2	5	3	4	3	5	2	0	0	5	2	2	1	rs61753061	byFrequency	TCGA-V1-A9Z8-01A-11D-A41K-08	TCGA-V1-A9Z8-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a82201da-16d7-42b1-860d-3d11fd33f502	9d1b2c85-05c5-4720-bbbc-07aaad25033e	g.chr17:650797G>A	ENST00000319004.5	-	2	604	c.486C>T	c.(484-486)gaC>gaT	p.D162D	GEMIN4_ENST00000437269.1_Silent_p.D162D|GEMIN4_ENST00000576778.1_Silent_p.D151D	NM_015721.2	NP_056536.2	P57678	GEMI4_HUMAN	gem (nuclear organelle) associated protein 4	162					gene expression (GO:0010467)|ncRNA metabolic process (GO:0034660)|RNA metabolic process (GO:0016070)|rRNA processing (GO:0006364)|spliceosomal snRNP assembly (GO:0000387)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|small nuclear ribonucleoprotein complex (GO:0030532)|SMN complex (GO:0032797)|SMN-Sm protein complex (GO:0034719)				breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(4)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	22		Myeloproliferative disorder(207;0.204)		UCEC - Uterine corpus endometrioid carcinoma (25;0.022)		CCCACCAGACGTCCAGGAAGA	0.567													G|||	4	0.000798722	0	0	5008	,	,		20007	0		0.004	False		,,,				2504	0					ENST00000576778.1																			0				breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(4)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	22						c.(451-453)gaC>gaT		gem (nuclear organelle) associated protein 4		G		2,4102		0,2,2050	131	137	135		486	-2.7	0.1	17	dbSNP_129	135	25,8339		0,25,4157	no	coding-synonymous	GEMIN4	NM_015721.2		0,27,6207	AA,AG,GG		0.2989,0.0487,0.2166		162/1059	650797	27,12441	2052	4182	6234	SO:0001819	synonymous_variant	50628				rRNA processing|spliceosomal snRNP assembly	Cajal body|cytosol|nucleolus|small nuclear ribonucleoprotein complex|spliceosomal complex	protein binding	g.chr17:650797G>A	AF177341	CCDS45559.1	17p13.3	2008-07-18				ENSG00000179409			15717	protein-coding gene	gene with protein product	"HCC-associated protein 1", "component of gems 4"	606969				10725331	Standard	NM_015721		Approved	HHRF-1, DKFZP434B131, p97, DKFZP434D174, HC56, HCAP1	uc002frs.1	P57678		ENST00000319004.5:c.486C>T	17.37:g.650797G>A						GEMIN4_ENST00000319004.5_Silent_p.D162D|GEMIN4_ENST00000437269.1_Silent_p.D162D	p.D151D			P57678	GEMI4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.022)	1	1794	-		Myeloproliferative disorder(207;0.204)	162					Q9NZS7|Q9UG32|Q9Y4Q2	Silent	SNP	ENST00000319004.5	37	c.453C>T	CCDS45559.1																																																																																				0.567	GEMIN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437181.1	NM_015721		6	98	0	0	0	1	0	6	98					A	650797	G	A	650797	2	1	393	1	0	0	0	0	0	0	0	1	6330	1136	40	1		1	GEMIN4	17	650797	Silent	SNP	G	TCGA-V1-A9Z8-01A-11D-A41K-08		650797	80544413	38	19267											
HEXDC	284004	broad.mit.edu	37	chr17	80395185	80395185	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtgcagtggctgcaggtggCgggcagcgggcccacggact	5	5	19	12	4	0	0	0	0	0	0	0	1	0	1	1	6	3	4	1	6	0	0	rs530533579		TCGA-V1-A9Z8-01A-11D-A41K-08	TCGA-V1-A9Z8-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a82201da-16d7-42b1-860d-3d11fd33f502	9d1b2c85-05c5-4720-bbbc-07aaad25033e	g.chr17:80395185C>T	ENST00000327949.9	+	7	856	c.845C>T	c.(844-846)gCg>gTg	p.A282V	HEXDC_ENST00000577944.1_Missense_Mutation_p.A282V|HEXDC_ENST00000337014.6_Missense_Mutation_p.A282V			Q8WVB3	HEXDC_HUMAN	hexosaminidase (glycosyl hydrolase family 20, catalytic domain) containing	282					carbohydrate metabolic process (GO:0005975)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	beta-N-acetylhexosaminidase activity (GO:0004563)			breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	16	Breast(20;0.00106)|all_neural(118;0.0804)		OV - Ovarian serous cystadenocarcinoma(97;0.0143)|BRCA - Breast invasive adenocarcinoma(99;0.0369)			CTGCAGGTGGCGGGCAGCGGG	0.682													C|||	1	0.000199681	0	0	5008	,	,		15206	0		0	False		,,,				2504	0.001					ENST00000337014.6																			0				breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	16						c.(844-846)gCg>gTg		hexosaminidase (glycosyl hydrolase family 20, catalytic domain) containing							39	44	43					17																	80395185		2047	4185	6232	SO:0001583	missense	284004				carbohydrate metabolic process	cytoplasm|nucleus	beta-N-acetylhexosaminidase activity|cation binding	g.chr17:80395185C>T	AK074405	CCDS42402.1	17q25.3	2011-12-19			ENSG00000169660	ENSG00000169660			26307	protein-coding gene	gene with protein product						12477932	Standard	NM_173620		Approved	FLJ23825	uc002kev.4	Q8WVB3		ENST00000327949.9:c.845C>T	17.37:g.80395185C>T	ENSP00000332634:p.Ala282Val					HEXDC_ENST00000577944.1_Missense_Mutation_p.A282V|HEXDC_ENST00000327949.9_Missense_Mutation_p.A282V	p.A282V	NM_173620.2	NP_775891.2	Q8WVB3	HEXDC_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0143)|BRCA - Breast invasive adenocarcinoma(99;0.0369)		8	1319	+	Breast(20;0.00106)|all_neural(118;0.0804)		282					B7UUP6|Q8IYN4|Q8TE81	Missense_Mutation	SNP	ENST00000327949.9	37	c.845C>T		.	.	.	.	.	.	.	.	.	.	C	10.92	1.486721	0.26686	.	.	ENSG00000169660	ENST00000337014;ENST00000327949	D;D	0.89875	-2.58;-2.58	5.15	4.18	0.49190	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.000000	0.85682	D	0.000000	D	0.89199	0.6647	M	0.70595	2.14	0.58432	D	0.999997	D;B;P	0.61697	0.99;0.446;0.744	P;B;B	0.49192	0.602;0.058;0.115	D	0.86604	0.1868	10	0.21540	T	0.41	-27.4296	12.505	0.55975	0.0:0.9191:0.0:0.0809	.	105;282;282	B7Z2X3;Q8WVB3;Q8WVB3-2	.;HEXDC_HUMAN;.	V	282	ENSP00000337854:A282V;ENSP00000332634:A282V	ENSP00000332634:A282V	A	+	2	0	HEXDC	77988474	0.992000	0.36948	0.805000	0.32314	0.060000	0.15804	3.033000	0.49743	1.175000	0.42826	0.561000	0.74099	GCG		0.682	HEXDC-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000443513.1	NM_173620		3	50	0	0	0	1	0	3	50					T	80395185	C	T	80395185	3	4	393	1	0	0	0	0	1	0	0	0	7075	768	27	1	871	1	HEXDC	17	80395185	Missense_Mutation	SNP	C	TCGA-V1-A9Z8-01A-11D-A41K-08	79744388	80395185	800025	39	19268											
DOCK6	57572	broad.mit.edu	37	chr19	11354024	11354024	+	Frame_Shift_Del	DEL	C	C	-																															ctactcgcccggtcctggggCccccgacggcggcggtctgt																										TCGA-V1-A9Z8-01A-11D-A41K-08	TCGA-V1-A9Z8-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a82201da-16d7-42b1-860d-3d11fd33f502	9d1b2c85-05c5-4720-bbbc-07aaad25033e	g.chr19:11354024delC	ENST00000294618.7	-	12	1307	c.1296delG	c.(1294-1296)gggfs	p.G432fs		NM_020812.3	NP_065863.2	Q96HP0	DOCK6_HUMAN	dedicator of cytokinesis 6	432					blood coagulation (GO:0007596)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(8)|liver(2)|lung(9)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	39						GGTCCTGGGGCCCCCGACGGC	0.627											OREG0025252	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000294618.7																			0				breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(8)|liver(2)|lung(9)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	39						c.(1294-1296)ggfs		dedicator of cytokinesis 6							11	15	14					19																	11354024		1875	4085	5960	SO:0001589	frameshift_variant	57572				blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	g.chr19:11354024delC		CCDS45975.1	19p13.2	2011-08-04			ENSG00000130158	ENSG00000130158			19189	protein-coding gene	gene with protein product		614194				12432077	Standard	NM_020812		Approved	KIAA1395, ZIR1	uc002mqs.5	Q96HP0		ENST00000294618.7:c.1296delG	19.37:g.11354024delC	ENSP00000294618:p.Gly432fs		OREG0025252	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	671		p.G432fs	NM_020812.3	NP_065863.2	Q96HP0	DOCK6_HUMAN			12	1307	-			432					A6H8X5|Q7Z7P4|Q9P2F2	Frame_Shift_Del	DEL	ENST00000294618.7	37	c.1296delG	CCDS45975.1																																																																																				0.627	DOCK6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453155.1	NM_020812		2	4						2	4	---	---	---	---	-	11354024	C	-	11354024	7	5	393	1	0	1	0	1	0	0	0	0	4691	726	26	0	4995	0	DOCK6	19	11354024	Frame_Shift_Del	DEL	C	TCGA-V1-A9Z8-01A-11D-A41K-08		11354024	47774959	40	19269											
MAST3	23031	broad.mit.edu	37	chr19	18255926	18255926	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtcccccgtgtgtggcagcCtgcggccccccatcgttatc	3	9	11	18	4	0	0	0	0	0	0	3	0	1	0	6	2	2	2	6	2	1	1			TCGA-V1-A9Z8-01A-11D-A41K-08	TCGA-V1-A9Z8-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a82201da-16d7-42b1-860d-3d11fd33f502	9d1b2c85-05c5-4720-bbbc-07aaad25033e	g.chr19:18255926C>T	ENST00000262811.6	+	23	2839	c.2839C>T	c.(2839-2841)Ctg>Ttg	p.L947L	AC007192.6_ENST00000600364.2_RNA	NM_015016.1	NP_055831.1	O60307	MAST3_HUMAN	microtubule associated serine/threonine kinase 3	947							ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(6)|ovary(4)|pancreas(1)|stomach(1)	31						GTGTGGCAGCCTGCGGCCCCC	0.657																																						ENST00000262811.5																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(6)|ovary(4)|pancreas(1)|stomach(1)	31						c.(2839-2841)Ctg>Ttg		microtubule associated serine/threonine kinase 3							78	86	83					19																	18255926		2031	4181	6212	SO:0001819	synonymous_variant	23031						ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity	g.chr19:18255926C>T	AB011133	CCDS46014.1	19p13	2008-02-05				ENSG00000099308			19036	protein-coding gene	gene with protein product		612258					Standard	NM_015016		Approved	KIAA0561	uc002nhz.4	O60307		ENST00000262811.6:c.2839C>T	19.37:g.18255926C>T						AC007192.6_ENST00000600364.1_RNA	p.L947L	NM_015016.1	NP_055831.1	O60307	MAST3_HUMAN			23	2839	+			947					Q7LDZ8|Q9UPI0	Silent	SNP	ENST00000262811.6	37	c.2839C>T	CCDS46014.1																																																																																				0.657	MAST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466526.2	XM_038150		9	89	0	0	0	1	0	9	89					T	18255926	C	T	18255926	2	4	393	1	0	0	0	0	0	0	0	1	9326	680	24	3		3	MAST3	19	18255926	Silent	SNP	C	TCGA-V1-A9Z8-01A-11D-A41K-08	6901902	18255926	40873057	41	19270											
LILRA1	11024	broad.mit.edu	37	chr19	55107307	55107307	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaccctgggccctgtgagcCgctcctacgggggccagtac	5	7	13	16	2	1	1	1	1	0	0	2	1	2	1	5	3	3	2	5	3	2	2	rs139230831	byFrequency	TCGA-V1-A9Z8-01A-11D-A41K-08	TCGA-V1-A9Z8-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a82201da-16d7-42b1-860d-3d11fd33f502	9d1b2c85-05c5-4720-bbbc-07aaad25033e	g.chr19:55107307C>A	ENST00000251372.3	+	6	1047	c.865C>A	c.(865-867)Cgc>Agc	p.R289S	LILRA1_ENST00000453777.1_Intron|LILRA1_ENST00000473156.1_3'UTR|LILRB1_ENST00000418536.2_Intron|LILRB1_ENST00000396321.2_Intron|LILRB1_ENST00000448689.1_Intron	NM_006863.2	NP_006854.1	O75019	LIRA1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1	289	Ig-like C2-type 3.				cell surface receptor signaling pathway (GO:0007166)|defense response (GO:0006952)|immune system process (GO:0002376)|regulation of immune response (GO:0050776)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	47				GBM - Glioblastoma multiforme(193;0.0348)		CCCTGTGAGCCGCTCCTACGG	0.642																																						ENST00000251372.3																			0				breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	47						c.(865-867)Cgc>Agc		leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1							43	58	53					19																	55107307		2203	4300	6503	SO:0001583	missense	11024				cell surface receptor linked signaling pathway|defense response|regulation of immune response	integral to membrane|plasma membrane	antigen binding|transmembrane receptor activity	g.chr19:55107307C>A	AF025530	CCDS12901.1, CCDS62802.1	19q13.4	2013-01-11			ENSG00000104974	ENSG00000104974		"Leukocyte immunoglobulin-like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6602	protein-coding gene	gene with protein product		604810				9548455	Standard	NM_006863		Approved	LIR-6, CD85i, LIR6	uc002qgh.2	O75019	OTTHUMG00000065701	ENST00000251372.3:c.865C>A	19.37:g.55107307C>A	ENSP00000251372:p.Arg289Ser					LILRB1_ENST00000418536.2_Intron|LILRB1_ENST00000396321.2_Intron|LILRA1_ENST00000473156.1_3'UTR|LILRA1_ENST00000453777.1_Intron|LILRB1_ENST00000448689.1_Intron	p.R289S	NM_006863.1	NP_006854.1	O75019	LIRA1_HUMAN		GBM - Glioblastoma multiforme(193;0.0348)	6	1047	+			289			Ig-like C2-type 3.		O75018|Q3MJA6	Missense_Mutation	SNP	ENST00000251372.3	37	c.865C>A	CCDS12901.1	.	.	.	.	.	.	.	.	.	.	C	0.005	-2.206522	0.00292	.	.	ENSG00000104974	ENST00000251372	T	0.12039	2.72	1.58	-3.16	0.05217	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	3.535700	0.01092	N	0.005193	T	0.06554	0.0168	N	0.16130	0.375	0.09310	N	1	B	0.15141	0.012	B	0.18561	0.022	T	0.25293	-1.0136	10	0.12766	T	0.61	.	0.1268	0.00070	0.3621:0.2034:0.1823:0.2522	.	289	O75019	LIRA1_HUMAN	S	289	ENSP00000251372:R289S	ENSP00000251372:R289S	R	+	1	0	LILRA1	59799119	0.000000	0.05858	0.000000	0.03702	0.039000	0.13416	-4.438000	0.00234	-2.102000	0.00845	0.194000	0.17425	CGC		0.642	LILRA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000140807.2	NM_006863		7	40	1	0	0.000157383	1	0.000171373	7	40					A	55107307	C	A	55107307	3	1	393	1	0	0	0	0	1	0	0	0	8784	652	23	5	883	5	LILRA1	19	55107307	Missense_Mutation	SNP	C	TCGA-V1-A9Z8-01A-11D-A41K-08	36851381	55107307	4021676	42	19271											
ASMT	438	broad.mit.edu	37	chrX	1748782	1748782	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagcgtcaacgggagaagcgTgctgaccgcctttgacctgt	8	8	14	11	4	1	3	1	2	0	1	1	5	1	3	3	1	4	1	3	1	2	1			TCGA-V1-A9Z8-01A-11D-A41K-08	TCGA-V1-A9Z8-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a82201da-16d7-42b1-860d-3d11fd33f502	9d1b2c85-05c5-4720-bbbc-07aaad25033e	g.chrX:1748782T>G	ENST00000381229.4	+	5	548	c.512T>G	c.(511-513)gTg>gGg	p.V171G	ASMT_ENST00000381241.3_Missense_Mutation_p.V171G|ASMT_ENST00000381233.3_Missense_Mutation_p.V171G|ASMT_ENST00000509780.1_Intron			P46597	ASMT_HUMAN	acetylserotonin O-methyltransferase	171			V -> M (functional polymorphism that nearly abolishes enzyme activity; dbSNP:rs121918820). {ECO:0000269|PubMed:21251267}.		cellular nitrogen compound metabolic process (GO:0034641)|indolalkylamine biosynthetic process (GO:0046219)|melatonin biosynthetic process (GO:0030187)|negative regulation of male gonad development (GO:2000019)|small molecule metabolic process (GO:0044281)|translation (GO:0006412)	cytosol (GO:0005829)	acetylserotonin O-methyltransferase activity (GO:0017096)|identical protein binding (GO:0042802)|O-methyltransferase activity (GO:0008171)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|skin(1)	16		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Melatonin(DB01065)	GGGAGAAGCGTGCTGACCGCC	0.552																																						ENST00000381241.3																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|skin(1)	16						c.(511-513)gTg>gGg		acetylserotonin O-methyltransferase							436	346	377					X																	1748782		2203	4296	6499	SO:0001583	missense	438				melatonin biosynthetic process|translation	cytosol	acetylserotonin O-methyltransferase activity|S-methyltransferase activity	g.chrX:1748782T>G	M83779	CCDS14117.1, CCDS55364.1	Xp22.3 and Yp11.3	2008-02-05			ENSG00000196433	ENSG00000196433	2.1.1.4	"Pseudoautosomal regions / PAR1"	750	protein-coding gene	gene with protein product		300015, 402500				8397829, 7989373	Standard	NM_004043		Approved	HIOMT, ASMTY, HIOMTY	uc010ncy.3	P46597	OTTHUMG00000021065	ENST00000381229.4:c.512T>G	X.37:g.1748782T>G	ENSP00000370627:p.Val171Gly					RP13-297E16.3_ENST00000509780.1_RNA|ASMT_ENST00000381233.3_Missense_Mutation_p.V171G|ASMT_ENST00000381229.4_Missense_Mutation_p.V171G	p.V171G	NM_001171038.1|NM_004043.2	NP_001164509.1|NP_004034.2	P46597	HIOM_HUMAN			5	711	+		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)	171					B2RC33|Q16598|Q5JQ72|Q5JQ73	Missense_Mutation	SNP	ENST00000381229.4	37	c.512T>G		.	.	.	.	.	.	.	.	.	.	t	13.51	2.257285	0.39896	.	.	ENSG00000196433	ENST00000381241;ENST00000381229;ENST00000381233	T;T;T	0.21031	2.03;2.03;2.03	1.45	1.45	0.22620	.	0.075778	0.52532	U	0.000071	T	0.45276	0.1334	M	0.87827	2.91	0.24451	N	0.994486	D;D	0.89917	1.0;1.0	D;D	0.76575	0.988;0.988	T	0.25984	-1.0116	10	0.87932	D	0	.	7.6772	0.28492	0.0:0.0:0.0:1.0	.	171;171	P46597-2;P46597-3	.;.	G	171	ENSP00000370639:V171G;ENSP00000370627:V171G;ENSP00000370631:V171G	ENSP00000370627:V171G	V	+	2	0	ASMT	1708782	1.000000	0.71417	0.099000	0.21106	0.267000	0.26476	5.089000	0.64492	0.365000	0.24400	0.084000	0.15446	GTG		0.552	ASMT-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000055612.1	NM_004043		4	89	0	0	0	1	0	4	89					G	1748782	T	G	1748782	3	3	393	1	0	0	0	0	1	0	0	0	1045	1696	59	5	530	5	ASMT	23	1748782	Missense_Mutation	SNP	T	TCGA-V1-A9Z8-01A-11D-A41K-08		1748782	153521778	43	19272											
PAGE2B	389860	broad.mit.edu	37	chrX	55103899	55103899	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggatgagcctggagatggTcctgatgtcagggaggggat	9	8	19	5	0	1	3	1	2	0	1	2	8	2	6	2	6	1	0	2	6	0	0			TCGA-V1-A9Z8-01A-11D-A41K-08	TCGA-V1-A9Z8-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a82201da-16d7-42b1-860d-3d11fd33f502	9d1b2c85-05c5-4720-bbbc-07aaad25033e	g.chrX:55103899T>A	ENST00000374971.1	+	4	313	c.261T>A	c.(259-261)ggT>ggA	p.G87G	PAGE2B_ENST00000374974.3_Silent_p.G70G	NM_001015038.1	NP_001015038.1	Q5JRK9	GGEE3_HUMAN	P antigen family, member 2B	87										lung(3)	3						CTGGAGATGGTCCTGATGTCA	0.398																																						ENST00000374971.1																			0				lung(3)	3						c.(259-261)ggT>ggA		P antigen family, member 2B							205	155	172					X																	55103899		2202	4300	6502	SO:0001819	synonymous_variant	389860							g.chrX:55103899T>A		CCDS35304.1	Xp11.22	2009-06-17			ENSG00000238269	ENSG00000238269			31805	protein-coding gene	gene with protein product							Standard	NM_001015038		Approved	CT16.5	uc004due.4	Q5JRK9	OTTHUMG00000021645	ENST00000374971.1:c.261T>A	X.37:g.55103899T>A						PAGE2B_ENST00000374974.3_Silent_p.G70G	p.G87G	NM_001015038.1	NP_001015038.1	Q5JRK9	GGEE3_HUMAN			4	313	+			87					A1L414	Silent	SNP	ENST00000374971.1	37	c.261T>A	CCDS35304.1																																																																																				0.398	PAGE2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056849.1	XM_372224		11	93	0	0	0	1	0	11	93					A	55103899	T	A	55103899	2	1	393	1	0	0	0	0	0	0	0	1	11391	1654	58	5		5	PAGE2B	23	55103899	Silent	SNP	T	TCGA-V1-A9Z8-01A-11D-A41K-08	53355117	55103899	100166661	44	19273											
COL24A1	255631	broad.mit.edu	37	chr1	86306932	86306932	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cctcgaggcccaggtggtccTaggactgtgctatcttctcc	5	11	11	14	1	2	0	0	0	2	0	5	2	3	1	4	4	1	1	4	4	2	3	rs368315060		TCGA-V1-A9Z9-01A-21D-A41K-08	TCGA-V1-A9Z9-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc8adf0-d482-4acf-bdec-3b1ec93fa84c	0f9d2e65-a5bb-406e-926b-e7e7d2507d70	g.chr1:86306932T>C	ENST00000370571.2	-	42	3966	c.3600A>G	c.(3598-3600)ctA>ctG	p.L1200L	COL24A1_ENST00000436319.1_Silent_p.L1200L	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1	1200					extracellular matrix organization (GO:0030198)|hematopoietic progenitor cell differentiation (GO:0002244)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)			NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		CAGGTGGTCCTAGGACTGTGC	0.333																																						ENST00000370571.2																			0				NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101						c.(3598-3600)ctA>ctG		collagen, type XXIV, alpha 1		T		0,3622		0,0,1811	49	46	47		3600	0.3	1	1		47	1,8153		0,1,4076	no	coding-synonymous	COL24A1	NM_152890.5		0,1,5887	CC,CT,TT		0.0123,0.0,0.0085		1200/1715	86306932	1,11775	1811	4077	5888	SO:0001819	synonymous_variant	255631				cell adhesion	collagen	extracellular matrix structural constituent	g.chr1:86306932T>C	AF410793	CCDS41353.1	1p22.3-p22.2	2013-01-16			ENSG00000171502	ENSG00000171502		"Collagens"	20821	protein-coding gene	gene with protein product		610025					Standard	NM_152890		Approved		uc001dlj.3	Q17RW2	OTTHUMG00000010629	ENST00000370571.2:c.3600A>G	1.37:g.86306932T>C						COL24A1_ENST00000436319.1_Silent_p.L1200L	p.L1200L	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN		all cancers(265;0.0627)|Epithelial(280;0.0689)	42	3966	-			1200					C9J1X6|Q14BD7|Q59EX5|Q5VY50|Q7Z5L5	Silent	SNP	ENST00000370571.2	37	c.3600A>G	CCDS41353.1																																																																																				0.333	COL24A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029335.4	NM_152890		14	28	0	0	0	1	0	14	28					C	86306932	T	C	86306932	2	2	394	1	0	0	0	0	0	0	0	1	3683	1509	53	4		4	COL24A1	1	86306932	Silent	SNP	T	TCGA-V1-A9Z9-01A-21D-A41K-08		86306932	162943689	1	19274											
ETV3	2117	broad.mit.edu	37	chr1	157105317	157105317	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gtggtttgcatttcctgcggCcccagaggcgggccacctca	5	9	13	14	2	1	1	1	0	0	1	2	1	2	1	5	4	2	2	5	4	0	2			TCGA-V1-A9Z9-01A-21D-A41K-08	TCGA-V1-A9Z9-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc8adf0-d482-4acf-bdec-3b1ec93fa84c	0f9d2e65-a5bb-406e-926b-e7e7d2507d70	g.chr1:157105317C>T	ENST00000368192.4	-	3	294	c.230G>A	c.(229-231)gGc>gAc	p.G77D	ETV3_ENST00000460850.1_5'UTR|ETV3_ENST00000326786.4_Missense_Mutation_p.G77D	NM_001145312.1	NP_001138784.1	P41162	ETV3_HUMAN	ets variant 3	77					cell differentiation (GO:0030154)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|prostate(2)	9	Hepatocellular(266;0.158)	Prostate(1639;0.174)				TTTCCTGCGGCCCCAGAGGCG	0.532																																						ENST00000368192.4																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|prostate(2)	9						c.(229-231)gGc>gAc		ets variant 3							44	48	47					1																	157105317		2202	4297	6499	SO:0001583	missense	2117						sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr1:157105317C>T	BC022868	CCDS1164.1, CCDS44250.1	1q21-q23	2008-09-12	2008-09-12		ENSG00000117036	ENSG00000117036			3492	protein-coding gene	gene with protein product		164873	"ets variant gene 3, ETS family transcriptional repressor", "ets variant gene 3"			8020980	Standard	NM_005240		Approved	PE-1	uc001fqr.2	P41162	OTTHUMG00000034298	ENST00000368192.4:c.230G>A	1.37:g.157105317C>T	ENSP00000357175:p.Gly77Asp					ETV3_ENST00000326786.4_Missense_Mutation_p.G77D|ETV3_ENST00000460850.1_5'UTR	p.G77D	NM_001145312.1	NP_001138784.1	P41162	ETV3_HUMAN			3	294	-	Hepatocellular(266;0.158)	Prostate(1639;0.174)	77					B4E3M7|Q8TAC8|Q9BX30	Missense_Mutation	SNP	ENST00000368192.4	37	c.230G>A	CCDS44250.1	.	.	.	.	.	.	.	.	.	.	C	24.7	4.558204	0.86231	.	.	ENSG00000117036	ENST00000368192;ENST00000326786	D;D	0.84660	-1.88;-1.88	5.32	5.32	0.75619	Winged helix-turn-helix transcription repressor DNA-binding (1);Ets (4);	0.000000	0.64402	D	0.000001	D	0.93697	0.7986	M	0.93420	3.415	0.80722	D	1	P;D	0.55172	0.918;0.97	P;D	0.65573	0.683;0.936	D	0.94786	0.7958	10	0.87932	D	0	.	18.1187	0.89564	0.0:1.0:0.0:0.0	.	77;77	P41162-2;P41162	.;ETV3_HUMAN	D	77	ENSP00000357175:G77D;ENSP00000327316:G77D	ENSP00000327316:G77D	G	-	2	0	ETV3	155371941	1.000000	0.71417	1.000000	0.80357	1.000000	0.99986	7.726000	0.84824	2.647000	0.89833	0.655000	0.94253	GGC		0.532	ETV3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000082843.2	NM_005240		5	32	0	0	0	1	0	5	32					T	157105317	C	T	157105317	3	4	394	1	0	0	0	0	1	0	0	0	5279	739	26	3	1352	3	ETV3	1	157105317	Missense_Mutation	SNP	C	TCGA-V1-A9Z9-01A-21D-A41K-08	70798385	157105317	92145304	2	19275											
FAM98A	25940	broad.mit.edu	37	chr2	33820568	33820568	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttacttactgttagttgcttGcacgttttcctctagtttac	6	20	6	9	1	1	0	0	0	1	0	2	0	2	0	1	0	5	6	1	0	5	10			TCGA-V1-A9Z9-01A-21D-A41K-08	TCGA-V1-A9Z9-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc8adf0-d482-4acf-bdec-3b1ec93fa84c	0f9d2e65-a5bb-406e-926b-e7e7d2507d70	g.chr2:33820568G>A	ENST00000238823.8	-	2	330	c.190C>T	c.(190-192)Caa>Taa	p.Q64*	FAM98A_ENST00000403368.1_Nonsense_Mutation_p.Q64*|FAM98A_ENST00000441530.2_5'UTR|FAM98A_ENST00000498340.1_5'UTR			Q8NCA5	FA98A_HUMAN	family with sequence similarity 98, member A	64							poly(A) RNA binding (GO:0044822)			NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(1)	24	all_hematologic(175;0.115)					TTAGTTGCTTGCACGTTTTCC	0.393																																						ENST00000403368.1																			0				NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(1)	24						c.(190-192)Caa>Taa		family with sequence similarity 98, member A							110	106	108					2																	33820568		2203	4300	6503	SO:0001587	stop_gained	25940							g.chr2:33820568G>A		CCDS33179.1	2p22.3	2006-11-29		2005-11-20	ENSG00000119812	ENSG00000119812			24520	protein-coding gene	gene with protein product						12477932	Standard	NM_015475		Approved	DKFZP564F0522	uc002rpa.1	Q8NCA5	OTTHUMG00000152152	ENST00000238823.8:c.190C>T	2.37:g.33820568G>A	ENSP00000238823:p.Gln64*					FAM98A_ENST00000441530.2_5'UTR|FAM98A_ENST00000498340.1_5'UTR|FAM98A_ENST00000238823.8_Nonsense_Mutation_p.Q64*	p.Q64*	NM_015475.3	NP_056290.3	Q8NCA5	FA98A_HUMAN			2	259	-	all_hematologic(175;0.115)		64					B2RNA2|Q9Y3Y6	Nonsense_Mutation	SNP	ENST00000238823.8	37	c.190C>T	CCDS33179.1	.	.	.	.	.	.	.	.	.	.	G	27.1	4.803359	0.90623	.	.	ENSG00000119812	ENST00000238823;ENST00000395190;ENST00000403368;ENST00000431950	.	.	.	6.16	6.16	0.99307	.	0.118477	0.64402	D	0.000019	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.13108	T	0.6	-9.5393	16.2434	0.82429	0.0:0.1318:0.8682:0.0	.	.	.	.	X	64	.	ENSP00000238823:Q64X	Q	-	1	0	FAM98A	33674072	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.362000	0.73077	2.937000	0.99478	0.650000	0.86243	CAA		0.393	FAM98A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325457.2	NM_015475		20	58	0	0	0	1	0	20	58					A	33820568	G	A	33820568	4	1	394	1	0	0	0	0	0	1	0	0	5656	1328	46	3	1394	3	FAM98A	2	33820568	Nonsense_Mutation	SNP	G	TCGA-V1-A9Z9-01A-21D-A41K-08		33820568	209378805	3	19276											
ZDBF2	57683	broad.mit.edu	37	chr2	207169847	207169847	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctgaaagctctaacgatagaCcagttacagctaatacaact	16	9	6	10	1	1	2	0	1	1	1	1	3	1	2	1	0	6	3	1	0	7	5			TCGA-V1-A9Z9-01A-21D-A41K-08	TCGA-V1-A9Z9-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc8adf0-d482-4acf-bdec-3b1ec93fa84c	0f9d2e65-a5bb-406e-926b-e7e7d2507d70	g.chr2:207169847C>T	ENST00000374423.3	+	5	981	c.595C>T	c.(595-597)Cca>Tca	p.P199S		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	199							nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						TAACGATAGACCAGTTACAGC	0.408																																						ENST00000374423.3																			0				endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						c.(595-597)Cca>Tca		zinc finger, DBF-type containing 2							52	52	52					2																	207169847		1864	4097	5961	SO:0001583	missense	57683						nucleic acid binding|zinc ion binding	g.chr2:207169847C>T	AB046791	CCDS46501.1, CCDS74637.1	2q33.3	2013-01-10			ENSG00000204186	ENSG00000204186		"Zinc fingers, DBF-type"	29313	protein-coding gene	gene with protein product						10997877	Standard	XM_005246711		Approved	FLJ45338, KIAA1571	uc002vbp.2	Q9HCK1	OTTHUMG00000154648	ENST00000374423.3:c.595C>T	2.37:g.207169847C>T	ENSP00000363545:p.Pro199Ser						p.P199S	NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN			5	981	+			199					Q6ZNP7|Q6ZSN8	Missense_Mutation	SNP	ENST00000374423.3	37	c.595C>T	CCDS46501.1	.	.	.	.	.	.	.	.	.	.	C	16.87	3.242051	0.58995	.	.	ENSG00000204186	ENST00000374423	T	0.16743	2.32	5.11	3.3	0.37823	.	0.226054	0.22845	N	0.054930	T	0.16514	0.0397	L	0.53249	1.67	0.09310	N	1	B	0.27997	0.197	B	0.28638	0.092	T	0.13150	-1.0520	10	0.41790	T	0.15	.	9.1561	0.36994	0.0:0.8335:0.0:0.1665	.	199	Q9HCK1	ZDBF2_HUMAN	S	199	ENSP00000363545:P199S	ENSP00000363545:P199S	P	+	1	0	ZDBF2	206878092	0.038000	0.19896	0.890000	0.34922	0.006000	0.05464	1.154000	0.31688	1.148000	0.42385	0.650000	0.86243	CCA		0.408	ZDBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336458.1	NM_020923		14	19	0	0	0	1	0	14	19					T	207169847	C	T	207169847	3	4	394	1	0	0	0	0	1	0	0	0	17596	507	18	3	605	3	ZDBF2	2	207169847	Missense_Mutation	SNP	C	TCGA-V1-A9Z9-01A-21D-A41K-08	173349279	207169847	36029526	4	19277											
CRYGC	1420	broad.mit.edu	37	chr2	208993062	208993062	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggcagctcgtagaggacccaGcagccctccagcacgtggag	9	4	14	14	2	0	1	0	0	0	1	2	3	1	3	3	3	4	5	3	3	1	1			TCGA-V1-A9Z9-01A-21D-A41K-08	TCGA-V1-A9Z9-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc8adf0-d482-4acf-bdec-3b1ec93fa84c	0f9d2e65-a5bb-406e-926b-e7e7d2507d70	g.chr2:208993062G>A	ENST00000282141.3	-	3	427	c.390C>T	c.(388-390)tgC>tgT	p.C130C		NM_020989.3	NP_066269.1	P07315	CRGC_HUMAN	crystallin, gamma C	130	Beta/gamma crystallin 'Greek key' 4. {ECO:0000255|PROSITE-ProRule:PRU00028}.				camera-type eye development (GO:0043010)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	structural constituent of eye lens (GO:0005212)			NS(1)|endometrium(1)|large_intestine(2)|lung(5)	9				LUSC - Lung squamous cell carcinoma(261;0.0703)|Epithelial(149;0.0858)|Lung(261;0.133)		AGAGGACCCAGCAGCCCTCCA	0.632																																						ENST00000282141.3																			0				NS(1)|endometrium(1)|large_intestine(2)|lung(5)	9						c.(388-390)tgC>tgT		crystallin, gamma C							56	54	55					2																	208993062		2203	4300	6503	SO:0001819	synonymous_variant	1420				visual perception	cytoplasm|nucleus	protein binding|structural constituent of eye lens	g.chr2:208993062G>A		CCDS2379.1	2q33.3	2013-02-14			ENSG00000163254	ENSG00000163254			2410	protein-coding gene	gene with protein product		123680		CRYG3			Standard	NM_020989		Approved		uc002vco.4	P07315	OTTHUMG00000132942	ENST00000282141.3:c.390C>T	2.37:g.208993062G>A							p.C130C	NM_020989.3	NP_066269.1	P07315	CRGC_HUMAN		LUSC - Lung squamous cell carcinoma(261;0.0703)|Epithelial(149;0.0858)|Lung(261;0.133)	3	427	-			130			Beta/gamma crystallin 'Greek key' 4.		Q53R50	Silent	SNP	ENST00000282141.3	37	c.390C>T	CCDS2379.1																																																																																				0.632	CRYGC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256474.1	NM_020989		18	35	0	0	0	1	0	18	35					A	208993062	G	A	208993062	2	1	394	1	0	0	0	0	0	0	0	1	3916	963	34	3		3	CRYGC	2	208993062	Silent	SNP	G	TCGA-V1-A9Z9-01A-21D-A41K-08	1823215	208993062	34206311	5	19278											
SETD2	29072	broad.mit.edu	37	chr3	47127717	47127721	+	Frame_Shift_Del	DEL	CGTCA	CGTCA	-																															cttctggttactttcccggcCgtcacctagctctgccatcc																								rs148618471	byFrequency	TCGA-V1-A9Z9-01A-21D-A41K-08	TCGA-V1-A9Z9-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc8adf0-d482-4acf-bdec-3b1ec93fa84c	0f9d2e65-a5bb-406e-926b-e7e7d2507d70	g.chr3:47127717_47127721delCGTCA	ENST00000409792.3	-	11	5403_5407	c.5361_5365delTGACG	c.(5359-5367)ggtgacggcfs	p.GDG1787fs	SETD2_ENST00000492397.1_5'Flank|snoU13_ENST00000516129.1_RNA	NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2	1787					angiogenesis (GO:0001525)|cell migration involved in vasculogenesis (GO:0035441)|coronary vasculature morphogenesis (GO:0060977)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic placenta morphogenesis (GO:0060669)|forebrain development (GO:0030900)|histone H3-K36 trimethylation (GO:0097198)|mesoderm morphogenesis (GO:0048332)|mismatch repair (GO:0006298)|morphogenesis of a branching structure (GO:0001763)|neural tube closure (GO:0001843)|nucleosome organization (GO:0034728)|pericardium development (GO:0060039)|regulation of mRNA export from nucleus (GO:0010793)|regulation of transcription, DNA-templated (GO:0006355)|stem cell development (GO:0048864)|transcription elongation from RNA polymerase II promoter (GO:0006368)	chromosome (GO:0005694)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)			breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		CTTTCCCGGCCGTCACCTAGCTCTG	0.478			"N, F, S, Mis"		clear cell renal carcinoma																																	ENST00000409792.3				Rec	yes		3	3p21.31	29072	"N, F, S, Mis"	SET domain containing 2			E			clear cell renal carcinoma		0				breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141						c.(5359-5367)gggcfs		SET domain containing 2																																				SO:0001589	frameshift_variant	29072				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding	g.chr3:47127717_47127721delCGTCA	AJ238403	CCDS2749.2	3p21.31	2014-09-17			ENSG00000181555	ENSG00000181555		"Chromatin-modifying enzymes / K-methyltransferases"	18420	protein-coding gene	gene with protein product		612778				16118227, 11461154	Standard	NM_014159		Approved	HYPB, HIF-1, KIAA1732, FLJ23184, KMT3A	uc003cqs.3	Q9BYW2	OTTHUMG00000133514	ENST00000409792.3:c.5361_5365delTGACG	3.37:g.47127717_47127721delCGTCA	ENSP00000386759:p.Gly1787fs						p.GDG1787fs	NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)	11	5403_5407	-		Acute lymphoblastic leukemia(5;0.0169)	1787					O75397|O75405|Q17RW8|Q5BKS9|Q5QGN2|Q69YI5|Q6IN64|Q6ZN53|Q6ZS25|Q8N3R0|Q8TCN0|Q9C0D1|Q9H696|Q9NZW9	Frame_Shift_Del	DEL	ENST00000409792.3	37	c.5361_5365delTGACG	CCDS2749.2																																																																																				0.478	SETD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257479.2	NM_014159		14	34						14	34	---	---	---	---	-	47127721	CGTCA	-	47127717	7	5	394	1	0	1	0	1	0	0	0	0	14131	652	23	0	2373	0	SETD2	3	47127717	Frame_Shift_Del	DEL	CGTCA	TCGA-V1-A9Z9-01A-21D-A41K-08		47127717	150894713	6	19279											
USP46	64854	broad.mit.edu	37	chr4	53494320	53494320	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcacggagttacagtagcatGtgtttccaaactgccaaggg	11	9	12	9	1	0	0	0	0	0	0	1	1	1	1	2	2	4	5	2	2	4	3			TCGA-V1-A9Z9-01A-21D-A41K-08	TCGA-V1-A9Z9-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc8adf0-d482-4acf-bdec-3b1ec93fa84c	0f9d2e65-a5bb-406e-926b-e7e7d2507d70	g.chr4:53494320G>C	ENST00000441222.3	-	3	312	c.128C>G	c.(127-129)aCa>aGa	p.T43R	USP46_ENST00000508499.1_Missense_Mutation_p.T36R|USP46_ENST00000451218.2_Missense_Mutation_p.T16R|USP46_ENST00000504078.1_5'Flank	NM_022832.3	NP_073743.2	P62068	UBP46_HUMAN	ubiquitin specific peptidase 46	43	USP.				adult feeding behavior (GO:0008343)|behavioral fear response (GO:0001662)|behavioral response to ethanol (GO:0048149)|protein deubiquitination (GO:0016579)|regulation of synaptic transmission, GABAergic (GO:0032228)|righting reflex (GO:0060013)|ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			breast(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(2)	12			LUSC - Lung squamous cell carcinoma(32;0.0295)			ACAGTAGCATGTGTTTCCAAA	0.517																																						ENST00000441222.2																			0				breast(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(2)	12						c.(127-129)aCa>aGa		ubiquitin specific peptidase 46							72	67	69					4																	53494320		2056	4214	6270	SO:0001583	missense	64854				behavior|protein deubiquitination|regulation of synaptic transmission, GABAergic|ubiquitin-dependent protein catabolic process		protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr4:53494320G>C	AK022614	CCDS47053.1, CCDS47054.1	4q12	2008-02-05	2005-08-08		ENSG00000109189	ENSG00000109189		"Ubiquitin-specific peptidases"	20075	protein-coding gene	gene with protein product		612849	"ubiquitin specific protease 46"			12838346	Standard	NM_022832		Approved	FLJ12552	uc003gzn.3	P62068	OTTHUMG00000160640	ENST00000441222.3:c.128C>G	4.37:g.53494320G>C	ENSP00000407818:p.Thr43Arg					USP46_ENST00000508499.1_Missense_Mutation_p.T36R|USP46_ENST00000451218.2_Missense_Mutation_p.T16R	p.T43R	NM_022832.3	NP_073743.2	P62068	UBP46_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.0295)		3	312	-			43					B7Z3Y7|B7Z675|B7Z7S3|G8ACC7|Q80V95|Q9H7U4|Q9H9T8	Missense_Mutation	SNP	ENST00000441222.3	37	c.128C>G	CCDS47053.1	.	.	.	.	.	.	.	.	.	.	G	25.3	4.624913	0.87560	.	.	ENSG00000109189	ENST00000441222;ENST00000451218;ENST00000508499	T;T;T	0.10668	2.85;2.85;2.85	4.72	4.72	0.59763	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2, conserved site (1);Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.196759	0.35772	N	0.002987	T	0.56761	0.2007	H	0.99877	4.88	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.79027	-0.1971	10	0.87932	D	0	-10.9414	17.2242	0.86965	0.0:0.0:1.0:0.0	.	43;36	P62068;P62068-3	UBP46_HUMAN;.	R	43;16;36	ENSP00000407818:T43R;ENSP00000390102:T16R;ENSP00000423244:T36R	ENSP00000407818:T43R	T	-	2	0	USP46	53189077	1.000000	0.71417	0.995000	0.50966	0.922000	0.55478	9.503000	0.97984	2.618000	0.88619	0.655000	0.94253	ACA		0.517	USP46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361516.2	NM_022832		6	31	0	0	0	1	0	6	31					C	53494320	G	C	53494320	3	2	394	1	0	0	0	0	1	0	0	0	17074	1377	48	5	1000	5	USP46	4	53494320	Missense_Mutation	SNP	G	TCGA-V1-A9Z9-01A-21D-A41K-08		53494320	137659956	7	19280											
DHX29	54505	broad.mit.edu	37	chr5	54557260	54557260	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gctgaacttctatatcaccaCcaaaaagtaaaactggaaaa	19	8	5	9	0	2	1	1	1	1	0	2	2	2	2	2	1	2	2	2	1	9	4			TCGA-V1-A9Z9-01A-21D-A41K-08	TCGA-V1-A9Z9-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc8adf0-d482-4acf-bdec-3b1ec93fa84c	0f9d2e65-a5bb-406e-926b-e7e7d2507d70	g.chr5:54557260C>A	ENST00000251636.5	-	25	4044	c.3896G>T	c.(3895-3897)gGt>gTt	p.G1299V	RP11-506H20.1_ENST00000506435.1_RNA	NM_019030.2	NP_061903.2	Q7Z478	DHX29_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 29	1299						eukaryotic 43S preinitiation complex (GO:0016282)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)|ribosomal small subunit binding (GO:0043024)|translation initiation factor activity (GO:0003743)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|lung(6)|ovary(4)|prostate(1)|skin(3)|urinary_tract(2)	46		Lung NSC(810;4.08e-05)|Breast(144;0.0544)|Prostate(74;0.183)				TATATCACCACCAAAAAGTAA	0.353																																						ENST00000251636.5																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|lung(6)|ovary(4)|prostate(1)|skin(3)|urinary_tract(2)	46						c.(3895-3897)gGt>gTt		DEAH (Asp-Glu-Ala-His) box polypeptide 29							91	95	93					5																	54557260		2203	4300	6503	SO:0001583	missense	54505						ATP binding|ATP-dependent helicase activity|translation initiation factor activity	g.chr5:54557260C>A	AY036974	CCDS34158.1	5q11.2	2008-02-05	2003-06-13	2003-06-20	ENSG00000067248	ENSG00000067248		"DEAH-boxes"	15815	protein-coding gene	gene with protein product		612720	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 29"	DDX29			Standard	XM_005248544		Approved		uc003jpx.3	Q7Z478	OTTHUMG00000162313	ENST00000251636.5:c.3896G>T	5.37:g.54557260C>A	ENSP00000251636:p.Gly1299Val					RP11-506H20.1_ENST00000506435.1_RNA	p.G1299V	NM_019030.2	NP_061903.2	Q7Z478	DHX29_HUMAN			25	4044	-		Lung NSC(810;4.08e-05)|Breast(144;0.0544)|Prostate(74;0.183)	1299					O75549|Q63HN0|Q63HN3|Q8IWW2|Q8N3A1|Q9UMH2	Missense_Mutation	SNP	ENST00000251636.5	37	c.3896G>T	CCDS34158.1	.	.	.	.	.	.	.	.	.	.	C	27.6	4.848342	0.91277	.	.	ENSG00000067248	ENST00000251636	T	0.06933	3.24	5.86	5.86	0.93980	Domain of unknown function DUF1605 (1);	0.000000	0.85682	D	0.000000	T	0.40094	0.1103	M	0.90542	3.125	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.34750	-0.9816	10	0.66056	D	0.02	.	20.5632	0.99335	0.0:1.0:0.0:0.0	.	1299	Q7Z478	DHX29_HUMAN	V	1299	ENSP00000251636:G1299V	ENSP00000251636:G1299V	G	-	2	0	DHX29	54593017	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.993000	0.76245	2.937000	0.99478	0.650000	0.86243	GGT		0.353	DHX29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368532.1	NM_019030		5	88	1	0	0.000602214	1	0.000630224	5	88					A	54557260	C	A	54557260	3	1	394	1	0	0	0	0	1	0	0	0	4503	507	18	5	225	5	DHX29	5	54557260	Missense_Mutation	SNP	C	TCGA-V1-A9Z9-01A-21D-A41K-08		54557260	126358000	8	19281											
LCP2	3937	broad.mit.edu	37	chr5	169677740	169677741	+	Frame_Shift_Del	DEL	CC	CC	-																															tttgaaatccttacctctttCcctcggagtccagttcccaa																										TCGA-V1-A9Z9-01A-21D-A41K-08	TCGA-V1-A9Z9-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc8adf0-d482-4acf-bdec-3b1ec93fa84c	0f9d2e65-a5bb-406e-926b-e7e7d2507d70	g.chr5:169677740_169677741delCC	ENST00000046794.5	-	20	2087_2088	c.1472_1473delGG	c.(1471-1473)gggfs	p.G491fs	LCP2_ENST00000521416.1_Frame_Shift_Del_p.G286fs|C5orf58_ENST00000517575.1_Intron	NM_005565.3	NP_005556.1	Q13094	LCP2_HUMAN	lymphocyte cytosolic protein 2 (SH2 domain containing leukocyte protein of 76kDa)	491	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				blood coagulation (GO:0007596)|cytokine secretion (GO:0050663)|Fc-epsilon receptor signaling pathway (GO:0038095)|immune response (GO:0006955)|innate immune response (GO:0045087)|mast cell activation (GO:0045576)|platelet activation (GO:0030168)|T cell receptor signaling pathway (GO:0050852)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)				cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	23	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0109)|all_neural(177;0.0146)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	OV - Ovarian serous cystadenocarcinoma(192;0.247)		TTACCTCTTTCCCTCGGAGTCC	0.416																																						ENST00000046794.5																			0				cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	23						c.(1471-1473)gfs		lymphocyte cytosolic protein 2 (SH2 domain containing leukocyte protein of 76kDa)																																				SO:0001589	frameshift_variant	3937				immune response|platelet activation|T cell receptor signaling pathway|transmembrane receptor protein tyrosine kinase signaling pathway	cytosol	protein binding	g.chr5:169677740_169677741delCC		CCDS47339.1	5q35.1	2013-02-14	2002-08-29		ENSG00000043462	ENSG00000043462		"SH2 domain containing"	6529	protein-coding gene	gene with protein product	"76 kDa tyrosine phosphoprotein", "SH2 domain-containing leukocyte protein of 76kD"	601603	"lymphocyte cytosolic protein 2 (SH2 domain-containing leukocyte protein of 76kD)"	SLP76		7706237	Standard	NM_005565		Approved	SLP-76	uc003man.1	Q13094	OTTHUMG00000163121	ENST00000046794.5:c.1472_1473delGG	5.37:g.169677740_169677741delCC	ENSP00000046794:p.Gly491fs					LCP2_ENST00000521416.1_Frame_Shift_Del_p.G286fs|C5orf58_ENST00000517575.1_Intron	p.G491fs	NM_005565.3	NP_005556.1	Q13094	LCP2_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	OV - Ovarian serous cystadenocarcinoma(192;0.247)	20	2087_2088	-	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0109)|all_neural(177;0.0146)	491			SH2.		A8KA25|Q53XV4	Frame_Shift_Del	DEL	ENST00000046794.5	37	c.1472_1473delGG	CCDS47339.1																																																																																				0.416	LCP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371727.1	NM_005565		28	69						28	69	---	---	---	---	-	169677741	CC	-	169677740	7	5	394	1	0	1	0	1	0	0	0	0	8692	842	30	0	136	0	LCP2	5	169677740	Frame_Shift_Del	DEL	CC	TCGA-V1-A9Z9-01A-21D-A41K-08	115120480	169677740	11237520	9	19282											
SASH1	23328	broad.mit.edu	37	chr6	148854057	148854057	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gggcgtgccagggtgcacacCgacttcacccccagtcccta	7	6	11	17	2	1	0	1	0	0	0	2	1	2	0	5	2	2	1	5	2	1	2			TCGA-V1-A9Z9-01A-21D-A41K-08	TCGA-V1-A9Z9-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc8adf0-d482-4acf-bdec-3b1ec93fa84c	0f9d2e65-a5bb-406e-926b-e7e7d2507d70	g.chr6:148854057C>T	ENST00000367467.3	+	14	2164	c.1689C>T	c.(1687-1689)acC>acT	p.T563T		NM_015278.3	NP_056093.3	O94885	SASH1_HUMAN	SAM and SH3 domain containing 1	563	SH3.				positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of lipopolysaccharide-mediated signaling pathway (GO:0031666)|positive regulation of NIK/NF-kappaB signaling (GO:1901224)|positive regulation of p38MAPK cascade (GO:1900745)|protein polyubiquitination (GO:0000209)|regulation of protein autoubiquitination (GO:1902498)|regulation of protein K63-linked ubiquitination (GO:1900044)	membrane (GO:0016020)|protein complex (GO:0043234)	mitogen-activated protein kinase kinase kinase binding (GO:0031435)|protein C-terminus binding (GO:0008022)|protein complex scaffold (GO:0032947)|protein kinase binding (GO:0019901)			breast(4)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Ovarian(120;0.0169)		OV - Ovarian serous cystadenocarcinoma(155;5.63e-11)|GBM - Glioblastoma multiforme(68;0.0701)		GGGTGCACACCGACTTCACCC	0.577																																						ENST00000367467.3																			0				breast(4)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						c.(1687-1689)acC>acT		SAM and SH3 domain containing 1							138	131	133					6																	148854057		2203	4300	6503	SO:0001819	synonymous_variant	23328						protein binding	g.chr6:148854057C>T	AB018333	CCDS5212.1	6q24.3	2013-01-10			ENSG00000111961	ENSG00000111961		"SAM and SH3 domain containing", "Sterile alpha motif (SAM) domain containing"	19182	protein-coding gene	gene with protein product		607955				9872452, 12771949	Standard	NM_015278		Approved	KIAA0790, dJ323M4.1, SH3D6A	uc003qme.1	O94885	OTTHUMG00000015773	ENST00000367467.3:c.1689C>T	6.37:g.148854057C>T							p.T563T	NM_015278.3	NP_056093.3	O94885	SASH1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.63e-11)|GBM - Glioblastoma multiforme(68;0.0701)	14	2164	+		Ovarian(120;0.0169)	563			SH3.		Q5TGN5|Q8TAI0|Q9H7R7	Silent	SNP	ENST00000367467.3	37	c.1689C>T	CCDS5212.1																																																																																				0.577	SASH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042619.1	NM_015278		26	72	0	0	0	1	0	26	72					T	148854057	C	T	148854057	2	4	394	1	0	0	0	0	0	0	0	1	13848	639	23	2		2	SASH1	6	148854057	Silent	SNP	C	TCGA-V1-A9Z9-01A-21D-A41K-08		148854057	22261010	10	19283											
AKAP9	10142	broad.mit.edu	37	chr7	91700316	91700316	+	Frame_Shift_Del	DEL	A	A	-																															agatgccatagacagaaaggAaaaagaggtaaggagtttat																										TCGA-V1-A9Z9-01A-21D-A41K-08	TCGA-V1-A9Z9-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc8adf0-d482-4acf-bdec-3b1ec93fa84c	0f9d2e65-a5bb-406e-926b-e7e7d2507d70	g.chr7:91700316delA	ENST00000359028.2	+	29	6866	c.6641delA	c.(6640-6642)gaafs	p.E2214fs	AKAP9_ENST00000356239.3_Frame_Shift_Del_p.E2202fs|AKAP9_ENST00000358100.2_Frame_Shift_Del_p.E2214fs			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	2214	Glu-rich.				G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|Sertoli cell development (GO:0060009)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)|synaptic transmission (GO:0007268)|transport (GO:0006810)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|pericentriolar material (GO:0000242)|voltage-gated potassium channel complex (GO:0008076)	ion channel binding (GO:0044325)|protein complex scaffold (GO:0032947)|receptor binding (GO:0005102)			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			GACAGAAAGGAAAAAGAGGTA	0.353			T	BRAF	papillary thyroid																																	ENST00000359028.2				Dom	yes		7	7q21-q22	10142	T	A kinase (PRKA) anchor protein (yotiao) 9			E	BRAF		papillary thyroid		0				NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155						c.(6640-6642)gafs		A kinase (PRKA) anchor protein 9							73	79	77					7																	91700316		2203	4300	6503	SO:0001589	frameshift_variant	10142				G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding	g.chr7:91700316delA	AF091711	CCDS5622.1	7q21-q22	2014-09-17	2013-09-25		ENSG00000127914	ENSG00000127914		"A-kinase anchor proteins", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	379	protein-coding gene	gene with protein product	"A-kinase anchoring protein 450", "AKAP9-BRAF fusion protein", "AKAP120-like protein", "centrosome- and golgi-localized protein kinase N-associated protein", "protein kinase A anchoring protein 9", "A-kinase anchor protein, 350kDa", "protein phosphatase 1, regulatory subunit 45", "yotiao"	604001				9482789, 10390370, 24475373	Standard	NM_147185		Approved	KIAA0803, AKAP350, AKAP450, CG-NAP, YOTIAO, HYPERION, PRKA9, MU-RMS-40.16A, PPP1R45, LQT11	uc003ulg.3	Q99996	OTTHUMG00000131127	ENST00000359028.2:c.6641delA	7.37:g.91700316delA	ENSP00000351922:p.Glu2214fs					AKAP9_ENST00000356239.3_Frame_Shift_Del_p.E2202fs|AKAP9_ENST00000358100.2_Frame_Shift_Del_p.E2214fs	p.E2214fs			Q99996	AKAP9_HUMAN	STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)		29	6866	+	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		2214			Glu-rich.		A4D1F0|A4D1F2|A4D1F4|O14869|O43355|O94895|Q75N20|Q9UQH3|Q9UQQ4|Q9Y6B8|Q9Y6Y2	Frame_Shift_Del	DEL	ENST00000359028.2	37	c.6641delA																																																																																					0.353	AKAP9-202	KNOWN	basic	protein_coding	protein_coding		NM_005751		15	49						15	49	---	---	---	---	-	91700316	A	-	91700316	7	5	394	1	0	1	0	1	0	0	0	0	459	246	9	0	6715	0	AKAP9	7	91700316	Frame_Shift_Del	DEL	A	TCGA-V1-A9Z9-01A-21D-A41K-08		91700316	67438347	11	19284											
GAL3ST4	79690	broad.mit.edu	37	chr7	99757657	99757658	+	Frame_Shift_Ins	INS	-	-	C																															ctcaggggtagctaggcgctINScacattcctcttggtcttgg																										TCGA-V1-A9Z9-01A-21D-A41K-08	TCGA-V1-A9Z9-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc8adf0-d482-4acf-bdec-3b1ec93fa84c	0f9d2e65-a5bb-406e-926b-e7e7d2507d70	g.chr7:99757657_99757658insC	ENST00000360039.4	-	4	1746_1747	c.1354_1355insG	c.(1354-1356)gagfs	p.E452fs	GAL3ST4_ENST00000413800.1_Frame_Shift_Ins_p.E452fs|C7orf43_ENST00000316937.3_5'Flank|C7orf43_ENST00000419841.1_5'Flank|C7orf43_ENST00000498638.1_5'Flank|GAL3ST4_ENST00000423751.1_3'UTR|C7orf43_ENST00000457641.1_5'Flank|GAL3ST4_ENST00000411994.1_3'UTR|GAL3ST4_ENST00000426974.2_Frame_Shift_Ins_p.E390fs	NM_024637.4	NP_078913.3	Q96RP7	G3ST4_HUMAN	galactose-3-O-sulfotransferase 4	452					cell-cell signaling (GO:0007267)|glycoprotein metabolic process (GO:0009100)|oligosaccharide metabolic process (GO:0009311)|proteoglycan biosynthetic process (GO:0030166)|sulfur compound metabolic process (GO:0006790)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	3'-phosphoadenosine 5'-phosphosulfate binding (GO:0050656)|galactose 3-O-sulfotransferase activity (GO:0050694)|galactosylceramide sulfotransferase activity (GO:0001733)|proteoglycan sulfotransferase activity (GO:0050698)			cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|ovary(5)|prostate(1)|upper_aerodigestive_tract(1)	26	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					AGCTAGGCGCTCACATTCCTCT	0.564																																						ENST00000360039.4																			0				cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|ovary(5)|prostate(1)|upper_aerodigestive_tract(1)	26						c.(1354-1356)gcgfs		galactose-3-O-sulfotransferase 4																																				SO:0001589	frameshift_variant	79690				cell-cell signaling|oligosaccharide metabolic process|proteoglycan biosynthetic process|sulfur compound metabolic process	Golgi cisterna membrane|integral to membrane|membrane fraction	3'-phosphoadenosine 5'-phosphosulfate binding|galactosylceramide sulfotransferase activity|proteoglycan sulfotransferase activity	g.chr7:99757657_99757658insC	AF316113	CCDS5688.1	7q22.1	2007-04-02			ENSG00000197093	ENSG00000197093		"Sulfotransferases, membrane-bound"	24145	protein-coding gene	gene with protein product		608235				11333265	Standard	NM_024637		Approved	FLJ12116	uc003utu.3	Q96RP7	OTTHUMG00000154885	ENST00000360039.4:c.1355dupG	7.37:g.99757658_99757658dupC	ENSP00000353142:p.Glu452fs					GAL3ST4_ENST00000413800.1_Frame_Shift_Ins_p.A452fs|GAL3ST4_ENST00000411994.1_3'UTR|GAL3ST4_ENST00000426974.2_Frame_Shift_Ins_p.A390fs|GAL3ST4_ENST00000423751.1_3'UTR	p.A452fs	NM_024637.4	NP_078913.3	Q96RP7	G3ST4_HUMAN			4	1746_1747	-	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		452					A4D2A8|B4DWL8|D6W5U5|Q8N3P7|Q8WZ17|Q96E33|Q9HA78	Frame_Shift_Ins	INS	ENST00000360039.4	37	c.1354_1355insG	CCDS5688.1																																																																																				0.564	GAL3ST4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337495.2	NM_024637		19	37						19	37	---	---	---	---	C	99757658	-	C	99757657	7	5	394	1	0	1	1	0	0	0	0	0	6200	1551	54	0	109	0	GAL3ST4	7	99757657	Frame_Shift_Ins	INS	-	TCGA-V1-A9Z9-01A-21D-A41K-08	8057341	99757657	59381006	12	19285											
LRCH4	4034	broad.mit.edu	37	chr7	100179757	100179757	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	accctcaggggcagctggcaGatgtagggtggcagcagcga	9	5	17	10	1	1	1	1	0	0	1	1	2	1	1	1	5	3	6	1	5	1	1			TCGA-V1-A9Z9-01A-21D-A41K-08	TCGA-V1-A9Z9-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc8adf0-d482-4acf-bdec-3b1ec93fa84c	0f9d2e65-a5bb-406e-926b-e7e7d2507d70	g.chr7:100179757G>A	ENST00000310300.6	-	3	451	c.399C>T	c.(397-399)atC>atT	p.I133I	LRCH4_ENST00000497245.1_5'UTR	NM_002319.3	NP_002310.2	O75427	LRCH4_HUMAN	leucine-rich repeats and calponin homology (CH) domain containing 4	133					nervous system development (GO:0007399)	PML body (GO:0016605)				NS(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	23	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GCAGCTGGCAGATGTAGGGTG	0.637																																						ENST00000310300.6																			0				NS(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	23						c.(397-399)atC>atT		leucine-rich repeats and calponin homology (CH) domain containing 4							52	56	55					7																	100179757		2203	4300	6503	SO:0001819	synonymous_variant	4034				nervous system development	PML body	protein binding	g.chr7:100179757G>A	AF053356	CCDS34706.1	7q22	2008-05-20	2004-05-27	2004-05-28	ENSG00000077454	ENSG00000077454			6691	protein-coding gene	gene with protein product				LRN, LRRN1		9799793	Standard	XM_005250346		Approved		uc003uvj.3	O75427	OTTHUMG00000159544	ENST00000310300.6:c.399C>T	7.37:g.100179757G>A						LRCH4_ENST00000497245.1_5'UTR	p.I133I	NM_002319.3	NP_002310.2	O75427	LRCH4_HUMAN			3	451	-	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		133					A4D2D5|Q8WV85|Q96ID0	Silent	SNP	ENST00000310300.6	37	c.399C>T	CCDS34706.1																																																																																				0.637	LRCH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356110.1	NM_002319		8	33	0	0	0	1	0	8	33					A	100179757	G	A	100179757	2	1	394	1	0	0	0	0	0	0	0	1	8935	932	33	3		3	LRCH4	7	100179757	Silent	SNP	G	TCGA-V1-A9Z9-01A-21D-A41K-08	422100	100179757	58958906	13	19286											
ORC5L	5001	broad.mit.edu	37	chr7	103844611	103844611	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tctaaagttttcaacaacgtTtgtgttacataggtctttcc	10	17	6	8	1	3	0	1	0	2	0	4	0	4	0	1	1	3	3	1	1	6	7			TCGA-V1-A9Z9-01A-21D-A41K-08	TCGA-V1-A9Z9-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc8adf0-d482-4acf-bdec-3b1ec93fa84c	0f9d2e65-a5bb-406e-926b-e7e7d2507d70	g.chr7:103844611T>C	ENST00000297431.4	-	2	286	c.144A>G	c.(142-144)caA>caG	p.Q48Q	ORC5_ENST00000447452.2_Silent_p.Q48Q|ORC5_ENST00000485726.1_5'UTR|ORC5_ENST00000545943.1_5'UTR	NM_002553.3	NP_002544.1	O43913	ORC5_HUMAN	origin recognition complex, subunit 5	48					DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)	cytoplasm (GO:0005737)|nuclear origin of replication recognition complex (GO:0005664)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|origin recognition complex (GO:0000808)	ATP binding (GO:0005524)|DNA replication origin binding (GO:0003688)|nucleotide binding (GO:0000166)			kidney(1)|large_intestine(2)|lung(9)|pancreas(1)|upper_aerodigestive_tract(1)	14						TCAACAACGTTTGTGTTACAT	0.303																																						ENST00000297431.4																			0				kidney(1)|large_intestine(2)|lung(9)|pancreas(1)|upper_aerodigestive_tract(1)	14						c.(142-144)caA>caG		origin recognition complex, subunit 5							67	68	67					7																	103844611		2201	4299	6500	SO:0001819	synonymous_variant	5001				cell cycle checkpoint|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	cytoplasm|nuclear origin of replication recognition complex|nucleoplasm	ATP binding|DNA replication origin binding|identical protein binding	g.chr7:103844611T>C		CCDS5734.1, CCDS47681.1	7q22.1	2014-06-13	2010-10-12	2010-10-12	ENSG00000164815	ENSG00000164815			8491	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 117"	602331	"origin recognition complex, subunit 5 (yeast homolog)-like", "origin recognition complex, subunit 5-like (yeast)", "origin recognition complex, subunit 5 homolog (yeast)"	ORC5L		9417919, 9829972	Standard	NM_002553		Approved	Orc5p, ORC5T, PPP1R117	uc003vcb.3	O43913	OTTHUMG00000157275	ENST00000297431.4:c.144A>G	7.37:g.103844611T>C						ORC5_ENST00000447452.2_Silent_p.Q48Q|ORC5_ENST00000485726.1_5'UTR|ORC5_ENST00000545943.1_5'UTR	p.Q48Q	NM_002553.3	NP_002544.1	O43913	ORC5_HUMAN			2	286	-			48					A4D0P8|O60590|O95268	Silent	SNP	ENST00000297431.4	37	c.144A>G	CCDS5734.1																																																																																				0.303	ORC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348286.1	NM_002553		23	43	0	0	0	1	0	23	43					C	103844611	T	C	103844611	2	2	394	1	0	0	0	0	0	0	0	1	11265	1838	64	4		4	ORC5L	7	103844611	Silent	SNP	T	TCGA-V1-A9Z9-01A-21D-A41K-08	3664854	103844611	55294052	14	19287											
ZFHX4	79776	broad.mit.edu	37	chr8	77765581	77765581	+	Nonsense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gaattacagatgatcagctaAaaatcctgagggcttatttt	14	13	8	6	0	1	3	1	2	0	1	2	4	2	3	1	1	2	2	1	1	6	5			TCGA-V1-A9Z9-01A-21D-A41K-08	TCGA-V1-A9Z9-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc8adf0-d482-4acf-bdec-3b1ec93fa84c	0f9d2e65-a5bb-406e-926b-e7e7d2507d70	g.chr8:77765581A>T	ENST00000521891.2	+	10	6872	c.6424A>T	c.(6424-6426)Aaa>Taa	p.K2142*	ZFHX4_ENST00000050961.6_Nonsense_Mutation_p.K2097*|ZFHX4_ENST00000518282.1_Nonsense_Mutation_p.K2116*|ZFHX4_ENST00000455469.2_Nonsense_Mutation_p.K2097*	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	2097					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			TGATCAGCTAAAAATCCTGAG	0.423										HNSCC(33;0.089)																												ENST00000521891.2																			0				NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432						c.(6424-6426)Aaa>Taa		zinc finger homeobox 4							43	42	42					8																	77765581		1852	4091	5943	SO:0001587	stop_gained	79776					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:77765581A>T		CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"Homeoboxes / ZF class"	30939	protein-coding gene	gene with protein product		606940	"zinc finger homeodomain 4"			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.6424A>T	8.37:g.77765581A>T	ENSP00000430497:p.Lys2142*	HNSCC(33;0.089)				ZFHX4_ENST00000455469.2_Nonsense_Mutation_p.K2097*|ZFHX4_ENST00000518282.1_Nonsense_Mutation_p.K2116*|ZFHX4_ENST00000050961.6_Nonsense_Mutation_p.K2097*	p.K2142*	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.0895)		10	6872	+			2097					G3V138|Q18PS0|Q6ZN20	Nonsense_Mutation	SNP	ENST00000521891.2	37	c.6424A>T	CCDS47878.2	.	.	.	.	.	.	.	.	.	.	A	48	14.525352	0.99799	.	.	ENSG00000091656	ENST00000521891;ENST00000399468;ENST00000455469;ENST00000050961;ENST00000518282	.	.	.	3.92	2.74	0.32292	.	0.000000	0.45606	U	0.000349	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05721	T	0.95	.	9.1542	0.36983	0.9097:0.0:0.0903:0.0	.	.	.	.	X	2142;2126;2097;2097;2116	.	ENSP00000050961:K2097X	K	+	1	0	ZFHX4	77928136	1.000000	0.71417	0.842000	0.33263	0.961000	0.63080	6.955000	0.76007	0.671000	0.31185	0.374000	0.22700	AAA		0.423	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	NM_024721		5	21	0	0	0	1	0	5	21					T	77765581	A	T	77765581	4	4	394	1	0	0	0	0	0	1	0	0	17632	15	1	5	6458	5	ZFHX4	8	77765581	Nonsense_Mutation	SNP	A	TCGA-V1-A9Z9-01A-21D-A41K-08		77765581	68598441	15	19288											
PTEN	5728	broad.mit.edu	37	chr10	89711899	89711899	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taactattcccagtcagaggCgctatgtgtattattatagc	11	14	8	8	1	1	1	1	0	0	1	2	1	2	1	1	1	2	2	1	1	7	8	rs121913293		TCGA-V1-A9Z9-01A-21D-A41K-08	TCGA-V1-A9Z9-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc8adf0-d482-4acf-bdec-3b1ec93fa84c	0f9d2e65-a5bb-406e-926b-e7e7d2507d70	g.chr10:89711899C>T	ENST00000371953.3	+	6	1874	c.517C>T	c.(517-519)Cgc>Tgc	p.R173C		NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	173	Phosphatase tensin-type. {ECO:0000255|PROSITE-ProRule:PRU00590}.		R -> C (in endometrial hyperplasia; loss of phosphatase activity towards Ins(1,3,4,5)P4 and PtdIns(3,4,5)P3; retains ability to bind phospholipid membranes). {ECO:0000269|PubMed:9635567}.|R -> H (loss of phosphatase activity towards Ins(1,3,4,5)P4).|R -> P (loss of phosphatase activity towards Ins(1,3,4,5)P4).		activation of mitotic anaphase-promoting complex activity (GO:0007092)|aging (GO:0007568)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|brain morphogenesis (GO:0048854)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle tissue development (GO:0048738)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|central nervous system myelin maintenance (GO:0032286)|central nervous system neuron axonogenesis (GO:0021955)|dendritic spine morphogenesis (GO:0060997)|dentate gyrus development (GO:0021542)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|innate immune response (GO:0045087)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|learning or memory (GO:0007611)|locomotor rhythm (GO:0045475)|locomotory behavior (GO:0007626)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|male mating behavior (GO:0060179)|maternal behavior (GO:0042711)|memory (GO:0007613)|multicellular organismal response to stress (GO:0033555)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell aging (GO:0090344)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031658)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myelination (GO:0031642)|negative regulation of organ growth (GO:0046621)|negative regulation of phagocytosis (GO:0050765)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of ribosome biogenesis (GO:0090071)|negative regulation of synaptic vesicle clustering (GO:2000808)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell proliferation (GO:0008284)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|postsynaptic density assembly (GO:0097107)|prepulse inhibition (GO:0060134)|presynaptic membrane assembly (GO:0097105)|prostate gland growth (GO:0060736)|protein dephosphorylation (GO:0006470)|protein kinase B signaling (GO:0043491)|protein stabilization (GO:0050821)|regulation of B cell apoptotic process (GO:0002902)|regulation of cellular component size (GO:0032535)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of neuron projection development (GO:0010975)|regulation of protein stability (GO:0031647)|response to arsenic-containing substance (GO:0046685)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse maturation (GO:0060074)|T cell receptor signaling pathway (GO:0050852)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|myelin sheath adaxonal region (GO:0035749)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)	anaphase-promoting complex binding (GO:0010997)|enzyme binding (GO:0019899)|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity (GO:0051717)|lipid binding (GO:0008289)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity (GO:0051800)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.0?(37)|p.R173C(32)|p.R55fs*1(5)|p.?(4)|p.V166fs*17(3)|p.G165fs*9(3)|p.R173fs*10(2)|p.Y27fs*1(2)|p.G165_*404del(1)|p.R172fs*5(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		CAGTCAGAGGCGCTATGTGTA	0.348	R173C(REH_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	31	"D, Mis, N, F, S"		"glioma,  prostate, endometrial"	"harmartoma, glioma,  prostate, endometrial"			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																												ENST00000371953.3	R173C(REH_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	31	yes	Rec	yes	"Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"	10	10q23.3	5728	"D, Mis, N, F, S"	phosphatase and tensin homolog gene			"L, E, M, O"		"harmartoma, glioma,  prostate, endometrial"	"glioma,  prostate, endometrial"		90	Whole gene deletion(37)|Substitution - Missense(32)|Deletion - Frameshift(13)|Unknown(4)|Complex - frameshift(3)|Deletion - In frame(1)	p.0?(37)|p.R173C(32)|p.R55fs*1(5)|p.?(4)|p.V166fs*17(3)|p.G165fs*9(3)|p.R173fs*10(2)|p.Y27fs*1(2)|p.G165_*404del(1)|p.R172fs*5(1)	central_nervous_system(31)|endometrium(16)|prostate(16)|skin(9)|haematopoietic_and_lymphoid_tissue(4)|lung(4)|breast(3)|ovary(3)|cervix(1)|soft_tissue(1)|urinary_tract(1)|kidney(1)	NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771	GRCh37	CM074467	PTEN	M	rs121913293	c.(517-519)Cgc>Tgc		phosphatase and tensin homolog							126	130	129					10																	89711899		2203	4300	6503	SO:0001583	missense	5728	Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	Familial Cancer Database	Incl.: Encephalocraniocutaneous Lipomatosis, ECCL, Proteus-like s.;incl.: Juvenile Polyposis of the Stomach;HMPS1, Colorectal Adenoma Carcinoma syndrome, CRAC, CRAC1;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;subset of PTEN-Hamartoma Tumor Syndrome; incl.: Ruvalcaba-Myhre-Smith s.	activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr10:89711899C>T	U92436	CCDS31238.1	10q23	2014-09-17	2008-07-31		ENSG00000171862	ENSG00000171862		"Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"	9588	protein-coding gene	gene with protein product	"mutated in multiple advanced cancers 1"	601728		BZS, MHAM		9090379	Standard	NM_000314		Approved	MMAC1, TEP1, PTEN1	uc001kfb.3	P60484	OTTHUMG00000018688	ENST00000371953.3:c.517C>T	10.37:g.89711899C>T	ENSP00000361021:p.Arg173Cys	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)					p.R173C	NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)	6	1874	+		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	173		R -> C (in endometrial hyperplasia; loss of phosphatase activity towards Ins(1,3,4,5)P4 and PtdIns(3,4,5)P3; retains ability to bind phospholipid membranes).|R -> H (loss of phosphatase activity towards Ins(1,3,4,5)P4).|R -> P (loss of phosphatase activity towards Ins(1,3,4,5)P4).	Phosphatase tensin-type.		B2R904|F2YHV0|O00633|O02679|Q6ICT7	Missense_Mutation	SNP	ENST00000371953.3	37	c.517C>T	CCDS31238.1	.	.	.	.	.	.	.	.	.	.	C	33	5.207402	0.95033	.	.	ENSG00000171862	ENST00000371953	D	0.98926	-5.24	5.74	5.74	0.90152	Phosphatase tensin type (1);	0.048960	0.85682	D	0.000000	D	0.99468	0.9811	H	0.96301	3.8	0.80722	D	1	D	0.89917	1.0	D	0.69824	0.966	D	0.98423	1.0578	9	.	.	.	0.9169	19.9308	0.97118	0.0:1.0:0.0:0.0	.	173	P60484	PTEN_HUMAN	C	173	ENSP00000361021:R173C	.	R	+	1	0	PTEN	89701879	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.406000	0.80017	2.722000	0.93159	0.591000	0.81541	CGC		0.348	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1	NM_000314		23	38	0	0	0	1	0	23	38					T	89711899	C	T	89711899	3	4	394	1	0	0	0	0	1	0	0	0	12738	768	27	1	539	1	PTEN	10	89711899	Missense_Mutation	SNP	C	TCGA-V1-A9Z9-01A-21D-A41K-08		89711899	45822848	16	19289											
ARFIP2	23647	broad.mit.edu	37	chr11	6500446	6500447	+	Frame_Shift_Del	DEL	GG	GG	-																															cccgagccacctcatctccaGggccagaaggagtggtgctg																										TCGA-V1-A9Z9-01A-21D-A41K-08	TCGA-V1-A9Z9-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc8adf0-d482-4acf-bdec-3b1ec93fa84c	0f9d2e65-a5bb-406e-926b-e7e7d2507d70	g.chr11:6500446_6500447delGG	ENST00000254584.2	-	4	321_322	c.238_239delCC	c.(238-240)cctfs	p.P80fs	ARFIP2_ENST00000423813.2_Frame_Shift_Del_p.P42fs|ARFIP2_ENST00000445086.2_Intron|TIMM10B_ENST00000254616.6_5'Flank|ARFIP2_ENST00000525235.1_Frame_Shift_Del_p.P80fs|TIMM10B_ENST00000530751.1_5'Flank|TIMM10B_ENST00000472836.1_5'Flank|ARFIP2_ENST00000396777.3_Frame_Shift_Del_p.P80fs	NM_012402.3	NP_036534.1	P53365	ARFP2_HUMAN	ADP-ribosylation factor interacting protein 2	80					actin cytoskeleton organization (GO:0030036)|cellular component movement (GO:0006928)|lamellipodium assembly (GO:0030032)|ruffle organization (GO:0031529)|small GTPase mediated signal transduction (GO:0007264)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	GTP binding (GO:0005525)|GTP-dependent protein binding (GO:0030742)|Rac GTPase binding (GO:0048365)			endometrium(2)|large_intestine(4)|liver(1)|lung(4)|pancreas(1)|prostate(1)|skin(2)	15		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;3.41e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		CTCATCTCCAGGGCCAGAAGGA	0.525																																					Melanoma(119;796 1674 9049 20480 24794)	ENST00000254584.2																			0				endometrium(2)|large_intestine(4)|liver(1)|lung(4)|pancreas(1)|prostate(1)|skin(2)	15						c.(238-240)tfs		ADP-ribosylation factor interacting protein 2																																				SO:0001589	frameshift_variant	23647				actin cytoskeleton organization|cellular component movement|lamellipodium assembly|ruffle organization|small GTPase mediated signal transduction	cell cortex|plasma membrane|ruffle	GTP binding|GTP-dependent protein binding|Rac GTPase binding	g.chr11:6500446_6500447delGG	BC000392	CCDS7765.1, CCDS55739.1, CCDS55740.1, CCDS73250.1	11p15	2008-08-01	2008-08-01		ENSG00000132254	ENSG00000132254			17160	protein-coding gene	gene with protein product	"arfaptin 2"	601638				8670882, 9038142	Standard	NM_012402		Approved	POR1	uc010ran.2	P53365	OTTHUMG00000133406	ENST00000254584.2:c.238_239delCC	11.37:g.6500446_6500447delGG	ENSP00000254584:p.Pro80fs					ARFIP2_ENST00000445086.2_Intron|ARFIP2_ENST00000396777.3_Frame_Shift_Del_p.P80fs|ARFIP2_ENST00000423813.2_Frame_Shift_Del_p.P42fs|ARFIP2_ENST00000525235.1_Frame_Shift_Del_p.P80fs	p.P80fs	NM_012402.3	NP_036534.1	P53365	ARFP2_HUMAN		Epithelial(150;3.41e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)	4	321_322	-		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)	80					B4DX86|B4E306|D3DQT5	Frame_Shift_Del	DEL	ENST00000254584.2	37	c.238_239delCC	CCDS7765.1																																																																																				0.525	ARFIP2-008	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387044.1	NM_012402		9	49						9	49	---	---	---	---	-	6500447	GG	-	6500446	7	5	394	1	0	1	0	1	0	0	0	0	855	1000	35	0	806	0	ARFIP2	11	6500446	Frame_Shift_Del	DEL	GG	TCGA-V1-A9Z9-01A-21D-A41K-08		6500446	128506070	17	19290											
SYT12	91683	broad.mit.edu	37	chr11	66802253	66802253	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cctctccgttccccaattacGactacaggtaccttcagcag	9	10	6	16	2	2	0	1	0	1	0	4	1	3	0	5	1	4	3	5	1	4	5	rs139889939	byFrequency	TCGA-V1-A9Z9-01A-21D-A41K-08	TCGA-V1-A9Z9-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc8adf0-d482-4acf-bdec-3b1ec93fa84c	0f9d2e65-a5bb-406e-926b-e7e7d2507d70	g.chr11:66802253G>A	ENST00000393946.2	+	6	1334	c.172G>A	c.(172-174)Gac>Aac	p.D58N	SYT12_ENST00000526281.1_Intron|SYT12_ENST00000525457.1_Missense_Mutation_p.D58N|SYT12_ENST00000527043.1_Missense_Mutation_p.D58N			Q8IV01	SYT12_HUMAN	synaptotagmin XII	58						cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|synapse (GO:0045202)				NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|urinary_tract(1)	20						CCCCAATTACGACTACAGGTA	0.632													G|||	2	0.000399361	0	0	5008	,	,		15739	0		0.002	False		,,,				2504	0				Ovarian(65;2862 3307)	ENST00000393946.2																			0				NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|urinary_tract(1)	20						c.(172-174)Gac>Aac		synaptotagmin XII		G	ASN/ASP,ASN/ASP	0,4400		0,0,2200	82	84	83		172,172	4	1	11	dbSNP_134	83	4,8586	3.7+/-12.6	0,4,4291	yes	missense,missense	SYT12	NM_001177880.1,NM_177963.3	23,23	0,4,6491	AA,AG,GG		0.0466,0.0,0.0308	possibly-damaging,possibly-damaging	58/422,58/422	66802253	4,12986	2200	4295	6495	SO:0001583	missense	91683					cell junction|integral to membrane|synaptic vesicle membrane		g.chr11:66802253G>A	AK024280	CCDS8154.1	11q13.2	2014-07-02			ENSG00000173227	ENSG00000173227		"Synaptotagmins"	18381	protein-coding gene	gene with protein product		606436				8987811	Standard	NM_177963		Approved	SRG1	uc001oju.3	Q8IV01	OTTHUMG00000167101	ENST00000393946.2:c.172G>A	11.37:g.66802253G>A	ENSP00000377520:p.Asp58Asn					SYT12_ENST00000527043.1_Missense_Mutation_p.D58N|SYT12_ENST00000525457.1_Missense_Mutation_p.D58N|SYT12_ENST00000526281.1_Intron	p.D58N			Q8IV01	SYT12_HUMAN			6	1334	+			58						Missense_Mutation	SNP	ENST00000393946.2	37	c.172G>A	CCDS8154.1	2	9.157509157509158E-4	0	0.0	0	0.0	0	0.0	2	0.002638522427440633	G	16.33	3.093437	0.56075	0.0	4.66E-4	ENSG00000173227	ENST00000393946;ENST00000525457;ENST00000527043;ENST00000533427	T;T;T	0.13778	2.56;2.56;2.56	4.94	4.03	0.46877	.	0.184300	0.46442	N	0.000294	T	0.09423	0.0232	N	0.24115	0.695	0.48632	D	0.999687	B	0.10296	0.003	B	0.04013	0.001	T	0.15896	-1.0421	10	0.28530	T	0.3	.	11.0731	0.48014	0.0916:0.0:0.9084:0.0	.	58	Q8IV01	SYT12_HUMAN	N	58	ENSP00000377520:D58N;ENSP00000431400:D58N;ENSP00000435316:D58N	ENSP00000377520:D58N	D	+	1	0	SYT12	66558829	1.000000	0.71417	0.987000	0.45799	0.985000	0.73830	5.083000	0.64456	1.066000	0.40716	0.563000	0.77884	GAC		0.632	SYT12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393129.1	NM_177963		24	47	0	0	0	1	0	24	47					A	66802253	G	A	66802253	3	1	394	1	0	0	0	0	1	0	0	0	15465	1058	37	2	178	2	SYT12	11	66802253	Missense_Mutation	SNP	G	TCGA-V1-A9Z9-01A-21D-A41K-08	60301807	66802253	68204263	18	19291											
MTMR2	8898	broad.mit.edu	37	chr11	95582869	95582869	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cagcattaacacttggccggGcatcaaatataaagattttg	14	11	8	8	1	1	1	1	0	0	1	1	1	1	1	1	2	2	2	1	2	5	6			TCGA-V1-A9Z9-01A-21D-A41K-08	TCGA-V1-A9Z9-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc8adf0-d482-4acf-bdec-3b1ec93fa84c	0f9d2e65-a5bb-406e-926b-e7e7d2507d70	g.chr11:95582869G>A	ENST00000346299.5	-	9	1302	c.962C>T	c.(961-963)gCc>gTc	p.A321V	MTMR2_ENST00000352297.7_Missense_Mutation_p.A249V|MTMR2_ENST00000409459.1_Missense_Mutation_p.A249V|MTMR2_ENST00000393223.3_Missense_Mutation_p.A249V|MTMR2_ENST00000484818.1_5'Flank	NM_016156.5	NP_057240.3	Q13614	MTMR2_HUMAN	myotubularin related protein 2	321	Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}.				cell death (GO:0008219)|dendritic spine maintenance (GO:0097062)|inositol phosphate dephosphorylation (GO:0046855)|myelin assembly (GO:0032288)|negative regulation of endocytosis (GO:0045806)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of myelination (GO:0031642)|negative regulation of receptor catabolic process (GO:2000645)|negative regulation of receptor internalization (GO:0002091)|neuron development (GO:0048666)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|positive regulation of early endosome to late endosome transport (GO:2000643)|protein dephosphorylation (GO:0006470)|protein tetramerization (GO:0051262)|small molecule metabolic process (GO:0044281)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|endosome (GO:0005768)|neuronal postsynaptic density (GO:0097481)|nucleus (GO:0005634)|synaptic membrane (GO:0097060)|synaptic vesicle (GO:0008021)|vacuolar membrane (GO:0005774)	phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity (GO:0052629)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	19		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				ACTTGGCCGGGCATCAAATAT	0.413																																						ENST00000393223.3																			0				autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	19						c.(745-747)gCc>gTc		myotubularin related protein 2							177	175	176					11																	95582869		2201	4298	6499	SO:0001583	missense	8898					nucleus	inositol or phosphatidylinositol phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr11:95582869G>A	U58033	CCDS8305.1, CCDS8306.1	11q22	2014-09-17			ENSG00000087053	ENSG00000087053		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"	7450	protein-coding gene	gene with protein product		603557		CMT4B		8640223, 9736772	Standard	NM_016156		Approved	KIAA1073	uc001pfu.3	Q13614	OTTHUMG00000153837	ENST00000346299.5:c.962C>T	11.37:g.95582869G>A	ENSP00000345752:p.Ala321Val					MTMR2_ENST00000346299.5_Missense_Mutation_p.A321V|MTMR2_ENST00000352297.7_Missense_Mutation_p.A249V|MTMR2_ENST00000409459.1_Missense_Mutation_p.A249V	p.A249V	NM_001243571.1|NM_201278.2	NP_001230500.1|NP_958435.1	Q13614	MTMR2_HUMAN			11	1408	-		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)	321			Myotubularin phosphatase.		A6NN98|Q9UPS9	Missense_Mutation	SNP	ENST00000346299.5	37	c.746C>T	CCDS8305.1	.	.	.	.	.	.	.	.	.	.	G	34	5.330858	0.95733	.	.	ENSG00000087053	ENST00000346299;ENST00000393223;ENST00000409459;ENST00000352297;ENST00000444541;ENST00000546018	D;D;D;D;D	0.90676	-2.71;-2.71;-2.71;-2.71;-2.71	5.17	5.17	0.71159	Myotubularin phosphatase domain (1);Myotubularin-related (1);	0.000000	0.85682	D	0.000000	D	0.96889	0.8984	H	0.95365	3.66	0.80722	D	1	D;D	0.89917	0.967;1.0	P;D	0.75020	0.735;0.985	D	0.98100	1.0414	10	0.87932	D	0	.	18.666	0.91491	0.0:0.0:1.0:0.0	.	321;321	A8K5G2;Q13614	.;MTMR2_HUMAN	V	321;249;249;249;249;304	ENSP00000345752:A321V;ENSP00000376915:A249V;ENSP00000386882:A249V;ENSP00000343737:A249V;ENSP00000396020:A249V	ENSP00000345752:A321V	A	-	2	0	MTMR2	95222517	1.000000	0.71417	0.998000	0.56505	0.950000	0.60333	9.787000	0.99055	2.402000	0.81655	0.591000	0.81541	GCC		0.413	MTMR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332620.1	NM_016156		4	131	0	0	0	1	0	4	131					A	95582869	G	A	95582869	3	1	394	1	0	0	0	0	1	0	0	0	9944	1203	42	3	997	3	MTMR2	11	95582869	Missense_Mutation	SNP	G	TCGA-V1-A9Z9-01A-21D-A41K-08	28780616	95582869	39423647	19	19292											
OR8D1	283159	broad.mit.edu	37	chr11	124179754	124179754	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	actcattttcctactaagacCttccttaatgctttcttcac	9	17	2	13	0	3	1	2	0	1	1	5	1	5	1	3	0	2	1	3	0	3	8			TCGA-V1-A9Z9-01A-21D-A41K-08	TCGA-V1-A9Z9-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc8adf0-d482-4acf-bdec-3b1ec93fa84c	0f9d2e65-a5bb-406e-926b-e7e7d2507d70	g.chr11:124179754C>T	ENST00000357821.2	-	1	979	c.909G>A	c.(907-909)aaG>aaA	p.K303K		NM_001002917.1	NP_001002917.1	Q8WZ84	OR8D1_HUMAN	olfactory receptor, family 8, subfamily D, member 1	303						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			kidney(1)|large_intestine(1)|lung(7)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0528)		CTACTAAGACCTTCCTTAATG	0.378																																						ENST00000357821.2																			0				kidney(1)|large_intestine(1)|lung(7)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						c.(907-909)aaG>aaA		olfactory receptor, family 8, subfamily D, member 1							99	99	99					11																	124179754		2201	4299	6500	SO:0001819	synonymous_variant	283159				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:124179754C>T	AF238489	CCDS31706.1	11q25	2012-08-09			ENSG00000196341	ENSG00000196341		"GPCR / Class A : Olfactory receptors"	8481	protein-coding gene	gene with protein product				OR8D3			Standard	NM_001002917		Approved	OST004	uc010sag.2	Q8WZ84	OTTHUMG00000165977	ENST00000357821.2:c.909G>A	11.37:g.124179754C>T							p.K303K	NM_001002917.1	NP_001002917.1	Q8WZ84	OR8D1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0528)	1	979	-		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	303					B2RNL4|Q6IEW1|Q8NGH0	Silent	SNP	ENST00000357821.2	37	c.909G>A	CCDS31706.1																																																																																				0.378	OR8D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387285.1	NM_001002917		10	31	0	0	0	1	0	10	31					T	124179754	C	T	124179754	2	4	394	1	0	0	0	0	0	0	0	1	11231	680	24	3		3	OR8D1	11	124179754	Silent	SNP	C	TCGA-V1-A9Z9-01A-21D-A41K-08	28596885	124179754	10826762	20	19293											
LST-3TM12	338821	broad.mit.edu	37	chr12	21207529	21207529	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	caagtcttagatgctttcctCtgtgcagttggacttacctc	7	15	8	11	0	2	1	0	0	2	1	4	2	3	2	2	1	3	3	2	1	3	4			TCGA-V1-A9Z9-01A-21D-A41K-08	TCGA-V1-A9Z9-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc8adf0-d482-4acf-bdec-3b1ec93fa84c	0f9d2e65-a5bb-406e-926b-e7e7d2507d70	g.chr12:21207529C>T	ENST00000421593.2	+	10	1500	c.1500C>T	c.(1498-1500)ctC>ctT	p.L500L	SLCO1B7_ENST00000554957.1_Silent_p.L547L|RP11-125O5.2_ENST00000590779.1_Missense_Mutation_p.S1F|LST3_ENST00000540229.1_Intron|LST3_ENST00000381541.3_Silent_p.L547L|SLCO1B3_ENST00000553473.1_Intron	NM_001009562.4	NP_001009562.3	G3V0H7	SO1B7_HUMAN	solute carrier organic anion transporter family, member 1B7 (non-functional)	500						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(25)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	46						ATGCTTTCCTCTGTGCAGTTG	0.353																																						ENST00000590779.1																			0											c.(1-3)tCt>tTt									86	94	91					12																	21207529		2187	4293	6480	SO:0001819	synonymous_variant	0							g.chr12:21207529C>T	AF401642	CCDS44843.1	12p12.3	2013-05-22			ENSG00000205754	ENSG00000205754		"Solute carriers"	32934	protein-coding gene	gene with protein product							Standard	NM_001009562		Approved	LST3, SLC21A21		G3V0H7	OTTHUMG00000169045	ENST00000421593.2:c.1500C>T	12.37:g.21207529C>T						LST3_ENST00000381541.3_Silent_p.L547L|SLCO1B7_ENST00000421593.2_Silent_p.L500L|SLCO1B7_ENST00000554957.1_Silent_p.L547L|SLCO1B3_ENST00000553473.1_Intron|LST3_ENST00000540229.1_Intron	p.S1F							1	2	+								Q71QF0	Missense_Mutation	SNP	ENST00000421593.2	37	c.2C>T	CCDS44843.1																																																																																				0.353	SLCO1B7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402066.1	NM_001009562		3	66	0	0	0	1	0	3	66					T	21207529	C	T	21207529	2	4	394	1	0	0	0	0	0	0	0	1	9066	900	32	3		3	LST-3TM12	12	21207529	Silent	SNP	C	TCGA-V1-A9Z9-01A-21D-A41K-08		21207529	112644366	21	19294											
MYBPC1	4604	broad.mit.edu	37	chr12	102053480	102053480	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aaggcagtggccggataagaAcagaatcttaccctgatagc	14	7	11	9	1	1	3	0	1	1	2	1	4	1	4	2	3	3	1	2	3	6	3			TCGA-V1-A9Z9-01A-21D-A41K-08	TCGA-V1-A9Z9-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc8adf0-d482-4acf-bdec-3b1ec93fa84c	0f9d2e65-a5bb-406e-926b-e7e7d2507d70	g.chr12:102053480A>G	ENST00000550270.1	+	17	1723	c.1723A>G	c.(1723-1725)Aca>Gca	p.T575A	MYBPC1_ENST00000360610.2_Missense_Mutation_p.T575A|MYBPC1_ENST00000551300.1_Missense_Mutation_p.T476A|MYBPC1_ENST00000361685.2_Missense_Mutation_p.T600A|MYBPC1_ENST00000547405.1_Missense_Mutation_p.T549A|MYBPC1_ENST00000361466.2_Missense_Mutation_p.T600A|MYBPC1_ENST00000553190.1_Missense_Mutation_p.T575A|MYBPC1_ENST00000392934.3_Missense_Mutation_p.T562A|MYBPC1_ENST00000550501.1_Intron|MYBPC1_ENST00000547509.1_Missense_Mutation_p.T561A|MYBPC1_ENST00000452455.2_Missense_Mutation_p.T575A|MYBPC1_ENST00000541119.1_Missense_Mutation_p.T563A|MYBPC1_ENST00000545503.2_Missense_Mutation_p.T575A|MYBPC1_ENST00000536007.1_Missense_Mutation_p.T556A|RP11-755O11.2_ENST00000547027.1_RNA|MYBPC1_ENST00000549145.1_Missense_Mutation_p.T588A|MYBPC1_ENST00000441232.1_Missense_Mutation_p.T575A			Q00872	MYPC1_HUMAN	myosin binding protein C, slow type	575	Ig-like C2-type 5.				cell adhesion (GO:0007155)|muscle filament sliding (GO:0030049)	cytosol (GO:0005829)|myofibril (GO:0030016)|myosin filament (GO:0032982)	structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	57						CCGGATAAGAACAGAATCTTA	0.423																																						ENST00000549145.1																			0				breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	57						c.(1762-1764)Aca>Gca		myosin binding protein C, slow type							125	112	117					12																	102053480		2203	4300	6503	SO:0001583	missense	4604				cell adhesion|muscle filament sliding	cytosol|myofibril|myosin filament	actin binding|structural constituent of muscle|titin binding	g.chr12:102053480A>G		CCDS9083.1, CCDS9084.1, CCDS9085.1, CCDS55877.1, CCDS58268.1, CCDS58269.1, CCDS58270.1, CCDS58271.1, CCDS58272.1, CCDS58273.1	12q23.2	2013-02-11	2001-11-28		ENSG00000196091	ENSG00000196091		"Myosin binding proteins", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	7549	protein-coding gene	gene with protein product		160794	"myosin-binding protein C, slow-type"			8375400, 16918501	Standard	NM_002465		Approved		uc010svs.2	Q00872	OTTHUMG00000170274	ENST00000550270.1:c.1723A>G	12.37:g.102053480A>G	ENSP00000449702:p.Thr575Ala					MYBPC1_ENST00000547509.1_Missense_Mutation_p.T561A|MYBPC1_ENST00000547405.1_Missense_Mutation_p.T549A|RP11-755O11.2_ENST00000547027.1_RNA|MYBPC1_ENST00000545503.2_Missense_Mutation_p.T575A|MYBPC1_ENST00000541119.1_Missense_Mutation_p.T563A|MYBPC1_ENST00000536007.1_Missense_Mutation_p.T556A|MYBPC1_ENST00000553190.1_Missense_Mutation_p.T575A|MYBPC1_ENST00000360610.2_Missense_Mutation_p.T575A|MYBPC1_ENST00000452455.2_Missense_Mutation_p.T575A|MYBPC1_ENST00000441232.1_Missense_Mutation_p.T575A|MYBPC1_ENST00000392934.3_Missense_Mutation_p.T562A|MYBPC1_ENST00000551300.1_Missense_Mutation_p.T476A|MYBPC1_ENST00000361685.2_Missense_Mutation_p.T600A|MYBPC1_ENST00000361466.2_Missense_Mutation_p.T600A|MYBPC1_ENST00000550501.1_Intron|MYBPC1_ENST00000550270.1_Missense_Mutation_p.T575A	p.T588A			Q00872	MYPC1_HUMAN			18	1862	+			575			Ig-like C2-type 5.		B4DKR5|B7Z8G8|B7ZL02|B7ZL09|B7ZL10|E7ESM5|E7EWS6|G3XAE8|Q15497|Q17RR7|Q569K7|Q86T48|Q86TC8|Q8N3L2	Missense_Mutation	SNP	ENST00000550270.1	37	c.1762A>G	CCDS9085.1	.	.	.	.	.	.	.	.	.	.	A	8.036	0.762766	0.15914	.	.	ENSG00000196091	ENST00000547405;ENST00000452455;ENST00000441232;ENST00000360610;ENST00000392934;ENST00000547509;ENST00000361685;ENST00000549145;ENST00000553190;ENST00000540770;ENST00000545503;ENST00000536007;ENST00000541119;ENST00000361466;ENST00000551300;ENST00000550270	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.66280	-0.2;-0.2;-0.2;-0.2;-0.2;-0.2;-0.2;-0.2;-0.2;-0.2;-0.2;-0.2;-0.2;-0.2;-0.2	5.42	0.32	0.15878	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.261294	0.26816	N	0.022348	T	0.26593	0.0650	N	0.02103	-0.685	0.20638	N	0.999871	B;B;B;B;B;B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0	B;B;B;B;B;B;B;B;B;B	0.04013	0.0;0.0;0.0;0.0;0.0;0.001;0.0;0.0;0.0;0.0	T	0.18681	-1.0329	10	0.16420	T	0.52	.	5.4905	0.16773	0.1973:0.0:0.5604:0.2423	.	556;563;575;575;562;549;575;575;600;600	B7ZL02;B7ZL10;E7EWS6;B7ZL09;E7ESM5;Q17RR7;Q00872-3;Q00872;G3XAE8;Q00872-2	.;.;.;.;.;.;.;MYPC1_HUMAN;.;.	A	549;575;575;575;562;561;600;588;575;600;575;556;563;600;476;575	ENSP00000448175:T549A;ENSP00000400908:T575A;ENSP00000388989:T575A;ENSP00000353822:T575A;ENSP00000376665:T562A;ENSP00000447362:T561A;ENSP00000354845:T600A;ENSP00000447660:T588A;ENSP00000447900:T575A;ENSP00000440034:T575A;ENSP00000446128:T556A;ENSP00000442847:T563A;ENSP00000354849:T600A;ENSP00000447116:T476A;ENSP00000449702:T575A	ENSP00000353822:T575A	T	+	1	0	MYBPC1	100577611	0.979000	0.34478	0.835000	0.33067	0.837000	0.47467	2.639000	0.46570	-0.215000	0.10063	-0.132000	0.14878	ACA		0.423	MYBPC1-024	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000408806.1			24	39	0	0	0	1	0	24	39					G	102053480	A	G	102053480	3	3	394	1	0	0	0	0	1	0	0	0	10011	43	2	4	1872	4	MYBPC1	12	102053480	Missense_Mutation	SNP	A	TCGA-V1-A9Z9-01A-21D-A41K-08	80845951	102053480	31798415	22	19295											
PAH	5053	broad.mit.edu	37	chr12	103246691	103246691	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aagaaatcccgagaggaaagCaggccagccacaggtcggag	15	2	14	10	2	0	2	0	0	0	2	2	5	1	4	3	4	2	1	3	4	3	0			TCGA-V1-A9Z9-01A-21D-A41K-08	TCGA-V1-A9Z9-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc8adf0-d482-4acf-bdec-3b1ec93fa84c	0f9d2e65-a5bb-406e-926b-e7e7d2507d70	g.chr12:103246691C>A	ENST00000553106.1	-	7	1216	c.744G>T	c.(742-744)ctG>ctT	p.L248L	PAH_ENST00000551988.1_5'Flank|PAH_ENST00000307000.2_Silent_p.L243L	NM_000277.1	NP_000268.1	P00439	PH4H_HUMAN	phenylalanine hydroxylase	248			L -> P (in PKU).		catecholamine biosynthetic process (GO:0042423)|cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|L-phenylalanine catabolic process (GO:0006559)|neurotransmitter biosynthetic process (GO:0042136)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	amino acid binding (GO:0016597)|iron ion binding (GO:0005506)|phenylalanine 4-monooxygenase activity (GO:0004505)			endometrium(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(5)|skin(2)|urinary_tract(1)	27					Droxidopa(DB06262)|Epinephrine(DB00668)|L-Phenylalanine(DB00120)|Norepinephrine(DB00368)|Tetrahydrobiopterin(DB00360)	GAGAGGAAAGCAGGCCAGCCA	0.537																																						ENST00000553106.1																			0				endometrium(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(5)|skin(2)|urinary_tract(1)	27						c.(742-744)ctG>ctT		phenylalanine hydroxylase	Epinephrine(DB00668)|L-Phenylalanine(DB00120)|Levodopa(DB01235)|Norepinephrine(DB00368)|Tetrahydrobiopterin(DB00360)						73	82	79					12																	103246691		2203	4300	6503	SO:0001819	synonymous_variant	5053				catecholamine biosynthetic process|L-phenylalanine catabolic process|neurotransmitter biosynthetic process	cytosol	phenylalanine 4-monooxygenase activity	g.chr12:103246691C>A	U49897	CCDS9092.1	12q22-q24.2	2010-04-27				ENSG00000171759	1.14.16.1		8582	protein-coding gene	gene with protein product	"phenylalanine 4-monooxygenase"	612349				2063869	Standard	NM_000277		Approved	PH	uc001tjq.1	P00439		ENST00000553106.1:c.744G>T	12.37:g.103246691C>A						PAH_ENST00000307000.2_Silent_p.L243L	p.L248L	NM_000277.1	NP_000268.1	P00439	PH4H_HUMAN			7	1216	-			248		L -> P (in PKU).			Q16717|Q8TC14	Silent	SNP	ENST00000553106.1	37	c.744G>T	CCDS9092.1																																																																																				0.537	PAH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406692.1			15	30	1	0	1.3612e-06	1	1.494e-06	15	30					A	103246691	C	A	103246691	2	1	394	1	0	0	0	0	0	0	0	1	11394	697	25	5		5	PAH	12	103246691	Silent	SNP	C	TCGA-V1-A9Z9-01A-21D-A41K-08	1193211	103246691	30605204	23	19296											
PNP	4860	broad.mit.edu	37	chr14	20942985	20942985	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggtgtggacaccctggtagtCaccaatgcagcaggagggct	9	7	15	10	0	1	0	1	0	0	0	1	2	1	2	2	5	2	4	2	5	2	1			TCGA-V1-A9Z9-01A-21D-A41K-08	TCGA-V1-A9Z9-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc8adf0-d482-4acf-bdec-3b1ec93fa84c	0f9d2e65-a5bb-406e-926b-e7e7d2507d70	g.chr14:20942985C>T	ENST00000361505.5	+	4	485	c.339C>T	c.(337-339)gtC>gtT	p.V113V	RP11-203M5.8_ENST00000554678.1_lincRNA	NM_000270.3	NP_000261.2	P01298	PAHO_HUMAN	purine nucleoside phosphorylase	0					digestion (GO:0007586)|protein secretion (GO:0009306)	extracellular region (GO:0005576)	hormone activity (GO:0005179)|receptor binding (GO:0005102)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|stomach(2)	10						CCCTGGTAGTCACCAATGCAG	0.463																																						ENST00000361505.5																			0				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|stomach(2)	10						c.(337-339)gtC>gtT		purine nucleoside phosphorylase	Aciclovir(DB00787)|Cladribine(DB00242)|Mercaptopurine(DB01033)						57	52	54					14																	20942985		2203	4300	6503	SO:0001819	synonymous_variant	4860				immune response|inosine catabolic process|interleukin-2 secretion|NAD biosynthesis via nicotinamide riboside salvage pathway|nicotinamide riboside catabolic process|positive regulation of alpha-beta T cell differentiation|positive regulation of T cell proliferation|purine base metabolic process|purine nucleotide catabolic process|purine-containing compound salvage|response to drug|urate biosynthetic process	cytoskeleton|cytosol	drug binding|nucleoside binding|phosphate binding|purine base binding|purine-nucleoside phosphorylase activity	g.chr14:20942985C>T		CCDS9552.1	14q11.2	2014-09-17	2009-12-02	2009-12-02	ENSG00000198805	ENSG00000198805	2.4.2.1		7892	protein-coding gene	gene with protein product		164050	"nucleoside phosphorylase"	NP		6087295	Standard	NM_000270		Approved	PUNP	uc001vxo.4	P00491	OTTHUMG00000029546	ENST00000361505.5:c.339C>T	14.37:g.20942985C>T						RP11-203M5.8_ENST00000554678.1_lincRNA	p.V113V	NM_000270.3	NP_000261.2	P00491	PNPH_HUMAN			4	485	+			113						Silent	SNP	ENST00000361505.5	37	c.339C>T	CCDS9552.1																																																																																				0.463	PNP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073646.2	NM_000270.2		10	20	0	0	0	1	0	10	20					T	20942985	C	T	20942985	2	4	394	1	0	0	0	0	0	0	0	1	12163	813	29	3		3	PNP	14	20942985	Silent	SNP	C	TCGA-V1-A9Z9-01A-21D-A41K-08		20942985	86406555	24	19297											
MARK3	4140	broad.mit.edu	37	chr14	103871417	103871417	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtatgctgtattgcagcacaCgtcacatggagatgggcgtc	9	10	13	9	2	1	1	1	0	0	1	2	2	1	1	0	2	3	5	0	2	2	3	rs375599947		TCGA-V1-A9Z9-01A-21D-A41K-08	TCGA-V1-A9Z9-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc8adf0-d482-4acf-bdec-3b1ec93fa84c	0f9d2e65-a5bb-406e-926b-e7e7d2507d70	g.chr14:103871417C>G	ENST00000429436.2	+	2	566	c.56C>G	c.(55-57)aCg>aGg	p.T19R	MARK3_ENST00000416682.2_Missense_Mutation_p.T19R|MARK3_ENST00000440884.3_Missense_Mutation_p.T19R|MARK3_ENST00000553942.1_Missense_Mutation_p.T19R|MARK3_ENST00000303622.9_Missense_Mutation_p.T19R|MARK3_ENST00000335102.5_Missense_Mutation_p.T19R|MARK3_ENST00000216288.7_Missense_Mutation_p.T19R	NM_001128918.1|NM_001128919.1	NP_001122390.1|NP_001122391.1	P27448	MARK3_HUMAN	MAP/microtubule affinity-regulating kinase 3	19						plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30		Melanoma(154;0.155)	Epithelial(46;0.241)			TTGCAGCACACGTCACATGGA	0.448																																						ENST00000429436.2																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						c.(55-57)aCg>aGg		MAP/microtubule affinity-regulating kinase 3							80	78	79					14																	103871417		1888	4117	6005	SO:0001583	missense	4140						ATP binding|protein binding|protein serine/threonine kinase activity	g.chr14:103871417C>G	M80359	CCDS41993.1, CCDS45165.1, CCDS45166.1, CCDS45167.1, CCDS55947.1	14q32.32	2014-04-07			ENSG00000075413	ENSG00000075413			6897	protein-coding gene	gene with protein product		602678				9533022	Standard	NM_002376		Approved	CTAK1, KP78, PAR-1A	uc001ymz.4	P27448	OTTHUMG00000171789	ENST00000429436.2:c.56C>G	14.37:g.103871417C>G	ENSP00000411397:p.Thr19Arg					MARK3_ENST00000440884.3_Missense_Mutation_p.T19R|MARK3_ENST00000216288.7_Missense_Mutation_p.T19R|MARK3_ENST00000553942.1_Missense_Mutation_p.T19R|MARK3_ENST00000416682.2_Missense_Mutation_p.T19R|MARK3_ENST00000335102.5_Missense_Mutation_p.T19R|MARK3_ENST00000303622.9_Missense_Mutation_p.T19R	p.T19R	NM_001128918.1|NM_001128919.1	NP_001122390.1|NP_001122391.1	P27448	MARK3_HUMAN	Epithelial(46;0.241)		2	566	+		Melanoma(154;0.155)	19					O60219|Q86TT8|Q8TB41|Q8WX83|Q96RG1|Q9UMY9|Q9UN34	Missense_Mutation	SNP	ENST00000429436.2	37	c.56C>G	CCDS45165.1	.	.	.	.	.	.	.	.	.	.	C	13.67	2.306610	0.40795	.	.	ENSG00000075413	ENST00000335102;ENST00000440884;ENST00000416682;ENST00000429436;ENST00000303622;ENST00000216288;ENST00000553942	T;T;T;T;T;T;T	0.73152	-0.69;-0.3;-0.63;-0.64;-0.62;-0.72;-0.64	5.23	4.33	0.51752	.	0.101283	0.64402	D	0.000002	T	0.80160	0.4572	M	0.74881	2.28	0.52501	D	0.999956	P;D;B;D;B;P	0.57257	0.601;0.979;0.052;0.967;0.087;0.953	D;P;B;P;B;P	0.63957	0.92;0.831;0.046;0.627;0.076;0.664	T	0.77446	-0.2585	10	0.20046	T	0.44	.	12.8149	0.57658	0.0:0.9199:0.0:0.0801	.	19;19;19;19;19;19	P27448-2;P27448-6;P27448;Q86TT8;P27448-4;P27448-3	.;.;MARK3_HUMAN;.;.;.	R	19	ENSP00000335347:T19R;ENSP00000402104:T19R;ENSP00000408092:T19R;ENSP00000411397:T19R;ENSP00000303698:T19R;ENSP00000216288:T19R;ENSP00000450772:T19R	ENSP00000216288:T19R	T	+	2	0	MARK3	102941170	0.986000	0.35501	1.000000	0.80357	0.926000	0.56050	2.697000	0.47060	1.168000	0.42723	0.650000	0.86243	ACG		0.448	MARK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415144.1	NM_001128918		14	30	0	0	0	1	0	14	30					G	103871417	C	G	103871417	3	3	394	1	0	0	0	0	1	0	0	0	9314	536	19	5	62	5	MARK3	14	103871417	Missense_Mutation	SNP	C	TCGA-V1-A9Z9-01A-21D-A41K-08	82928432	103871417	3478123	25	19298											
ITGAL	3683	broad.mit.edu	37	chr16	30529130	30529130	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cttgtcagccttgtctccccGgagccctgttccgctgccct	2	12	9	18	2	2	0	1	0	1	0	4	1	3	1	6	1	3	2	6	1	0	3	rs557551761		TCGA-V1-A9Z9-01A-21D-A41K-08	TCGA-V1-A9Z9-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc8adf0-d482-4acf-bdec-3b1ec93fa84c	0f9d2e65-a5bb-406e-926b-e7e7d2507d70	g.chr16:30529130G>A	ENST00000356798.6	+	28	3226	c.3046G>A	c.(3046-3048)Gga>Aga	p.G1016R	ITGAL_ENST00000433423.2_Missense_Mutation_p.G250R|ITGAL_ENST00000358164.5_Missense_Mutation_p.G932R	NM_002209.2	NP_002200.2	P20701	ITAL_HUMAN	integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide)	1016					activated T cell proliferation (GO:0050798)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|cellular component movement (GO:0006928)|extracellular matrix organization (GO:0030198)|heterophilic cell-cell adhesion (GO:0007157)|inflammatory response (GO:0006954)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of T cell proliferation (GO:0042102)|receptor clustering (GO:0043113)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell (GO:0002291)	cell surface (GO:0009986)|cell-cell junction (GO:0005911)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|integrin alphaL-beta2 complex (GO:0034687)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|ICAM-3 receptor activity (GO:0030369)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	76					Antithymocyte globulin(DB00098)|Efalizumab(DB00095)|Lovastatin(DB00227)	TTGTCTCCCCGGAGCCCTGTT	0.637													G|||	1	0.000199681	0	0	5008	,	,		17450	0		0.001	False		,,,				2504	0				NSCLC(110;1462 1641 3311 33990 49495)	ENST00000356798.6																			0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	76						c.(3046-3048)Gga>Aga		integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide)	Efalizumab(DB00095)						112	108	110					16																	30529130		2197	4300	6497	SO:0001583	missense	0				blood coagulation|heterophilic cell-cell adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell	integrin complex	cell adhesion molecule binding|receptor activity	g.chr16:30529130G>A		CCDS32433.1, CCDS45461.1	16p13.1-p11	2010-03-23				ENSG00000005844		"CD molecules", "Integrins"	6148	protein-coding gene	gene with protein product		153370		CD11A		3284962	Standard	NM_002209		Approved	LFA-1	uc002dyi.4	P20701		ENST00000356798.6:c.3046G>A	16.37:g.30529130G>A	ENSP00000349252:p.Gly1016Arg					ITGAL_ENST00000358164.5_Missense_Mutation_p.G932R|ITGAL_ENST00000433423.2_Missense_Mutation_p.G250R	p.G1016R	NM_002209.2	NP_002200.2	P20701	ITAL_HUMAN			28	3226	+			1016					O43746|Q45H73|Q96HB1|Q9UBC8	Missense_Mutation	SNP	ENST00000356798.6	37	c.3046G>A	CCDS32433.1	.	.	.	.	.	.	.	.	.	.	G	14.88	2.667397	0.47677	.	.	ENSG00000005844	ENST00000356798;ENST00000358164;ENST00000433423	T;T;T	0.57595	0.39;0.74;1.95	5.13	1.99	0.26369	.	0.399666	0.21424	N	0.074777	T	0.48589	0.1508	L	0.47716	1.5	0.09310	N	1	D;P;P	0.63046	0.992;0.73;0.861	P;B;B	0.51487	0.671;0.282;0.373	T	0.36114	-0.9761	10	0.46703	T	0.11	.	4.6082	0.12389	0.1835:0.0:0.6435:0.173	.	250;932;1016	B4E021;Q96HB1;P20701	.;.;ITAL_HUMAN	R	1016;932;250	ENSP00000349252:G1016R;ENSP00000350886:G932R;ENSP00000409377:G250R	ENSP00000349252:G1016R	G	+	1	0	ITGAL	30436631	0.000000	0.05858	0.003000	0.11579	0.055000	0.15305	0.266000	0.18534	0.283000	0.22279	-0.251000	0.11542	GGA		0.637	ITGAL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434508.2			33	77	0	0	0	1	0	33	77					A	30529130	G	A	30529130	3	1	394	1	0	0	0	0	1	0	0	0	7886	1117	39	2	3156	2	ITGAL	16	30529130	Missense_Mutation	SNP	G	TCGA-V1-A9Z9-01A-21D-A41K-08		30529130	59825623	26	19299											
VTN	7448	broad.mit.edu	37	chr17	26697015	26697015	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taagagcagagctcgtcacaCtggcacttcttgtccacgtt	9	11	9	12	2	2	2	1	0	1	2	4	2	3	2	1	1	2	4	1	1	1	4			TCGA-V1-A9Z9-01A-21D-A41K-08	TCGA-V1-A9Z9-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc8adf0-d482-4acf-bdec-3b1ec93fa84c	0f9d2e65-a5bb-406e-926b-e7e7d2507d70	g.chr17:26697015C>G	ENST00000226218.4	-	2	735	c.117G>C	c.(115-117)caG>caC	p.Q39H	VTN_ENST00000536498.1_5'UTR|CTB-96E2.3_ENST00000591482.1_RNA|VTN_ENST00000438614.1_5'Flank|CTB-96E2.2_ENST00000555059.2_5'Flank|SARM1_ENST00000379061.4_Intron|TMEM199_ENST00000509083.1_Intron|SARM1_ENST00000457710.3_5'Flank	NM_000638.3	NP_000629.3	P04004	VTNC_HUMAN	vitronectin	39	SMB. {ECO:0000255|PROSITE- ProRule:PRU00350}.				cell adhesion (GO:0007155)|cell adhesion mediated by integrin (GO:0033627)|cell-matrix adhesion (GO:0007160)|endodermal cell differentiation (GO:0035987)|extracellular matrix organization (GO:0030198)|immune response (GO:0006955)|innate immune response (GO:0045087)|negative regulation of blood coagulation (GO:0030195)|negative regulation of endopeptidase activity (GO:0010951)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein binding (GO:0032092)|positive regulation of receptor-mediated endocytosis (GO:0048260)|positive regulation of smooth muscle cell migration (GO:0014911)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|positive regulation of wound healing (GO:0090303)|regulation of complement activation (GO:0030449)|smooth muscle cell-matrix adhesion (GO:0061302)	alphav-beta3 integrin-vitronectin complex (GO:0071062)|blood microparticle (GO:0072562)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix binding (GO:0050840)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)			kidney(2)|large_intestine(7)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	13	all_lung(13;0.000533)|Lung NSC(42;0.00171)			UCEC - Uterine corpus endometrioid carcinoma (53;0.153)	Abciximab(DB00054)	GCTCGTCACACTGGCACTTCT	0.592																																						ENST00000226218.4																			0				kidney(2)|large_intestine(7)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	13						c.(115-117)caG>caC		vitronectin	Urokinase(DB00013)						108	106	107					17																	26697015		2203	4300	6503	SO:0001583	missense	7448				cell adhesion mediated by integrin|immune response|negative regulation of endopeptidase activity|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein binding|positive regulation of receptor-mediated endocytosis|positive regulation of smooth muscle cell migration|positive regulation of vascular endothelial growth factor receptor signaling pathway|smooth muscle cell-matrix adhesion	alphav-beta3 integrin-vitronectin complex|extracellular space	heparin binding|integrin binding|scavenger receptor activity	g.chr17:26697015C>G	BC005046	CCDS11229.1	17q11.2	2014-08-08	2006-02-10		ENSG00000109072	ENSG00000109072		"Endogenous ligands"	12724	protein-coding gene	gene with protein product	"serum spreading factor", "somatomedin B", "complement S-protein"	193190	"vitronectin (serum spreading factor, somatomedin B, complement S-protein)"			2447940	Standard	NM_000638		Approved	VN	uc002hbc.3	P04004	OTTHUMG00000132500	ENST00000226218.4:c.117G>C	17.37:g.26697015C>G	ENSP00000226218:p.Gln39His					SARM1_ENST00000379061.4_Intron|CTB-96E2.3_ENST00000591482.1_RNA|TMEM199_ENST00000509083.1_Intron|SEBOX_ENST00000536498.1_5'UTR	p.Q39H	NM_000638.3	NP_000629.3	P04004	VTNC_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (53;0.153)	2	735	-	all_lung(13;0.000533)|Lung NSC(42;0.00171)		39			SMB.		B2R7G0|P01141|Q9BSH7	Missense_Mutation	SNP	ENST00000226218.4	37	c.117G>C	CCDS11229.1	.	.	.	.	.	.	.	.	.	.	C	17.91	3.504182	0.64410	.	.	ENSG00000255604	ENST00000226218;ENST00000542029	T;T	0.45276	0.9;0.9	5.77	2.68	0.31781	Somatomedin B domain (4);Somatomedin B, chordata (1);	0.000000	0.85682	D	0.000000	T	0.54822	0.1882	L	0.49455	1.56	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.53187	-0.8474	10	0.87932	D	0	-26.3686	10.0756	0.42358	0.0:0.7231:0.0:0.2769	.	39	P04004	VTNC_HUMAN	H	39	ENSP00000226218:Q39H;ENSP00000440439:Q39H	ENSP00000226218:Q39H	Q	-	3	2	AC002094.1	23721142	1.000000	0.71417	1.000000	0.80357	0.628000	0.37860	1.955000	0.40372	0.353000	0.24079	0.655000	0.94253	CAG		0.592	VTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255680.2	NM_000638		14	26	0	0	0	1	0	14	26					G	26697015	C	G	26697015	3	3	394	1	0	0	0	0	1	0	0	0	17234	564	20	5	1347	5	VTN	17	26697015	Missense_Mutation	SNP	C	TCGA-V1-A9Z9-01A-21D-A41K-08		26697015	54498195	27	19300											
SYNRG	11276	broad.mit.edu	37	chr17	35900638	35900638	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaaggctcaaactcctcttGtgtgatcctgggagaagggg	9	9	13	10	0	2	2	1	1	1	1	4	3	4	2	3	4	1	1	3	4	3	1			TCGA-V1-A9Z9-01A-21D-A41K-08	TCGA-V1-A9Z9-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc8adf0-d482-4acf-bdec-3b1ec93fa84c	0f9d2e65-a5bb-406e-926b-e7e7d2507d70	g.chr17:35900638G>T	ENST00000339208.6	-	16	3350	c.3210C>A	c.(3208-3210)caC>caA	p.H1070Q	SYNRG_ENST00000585472.1_Missense_Mutation_p.H991Q|SYNRG_ENST00000502449.2_Missense_Mutation_p.H947Q|SYNRG_ENST00000394378.2_Missense_Mutation_p.H992Q|SYNRG_ENST00000591288.1_Missense_Mutation_p.H864Q|SYNRG_ENST00000345615.4_Missense_Mutation_p.H992Q|SYNRG_ENST00000346661.4_Missense_Mutation_p.H1070Q	NM_001163544.1|NM_001163545.1|NM_007247.4	NP_001157016.1|NP_001157017.1|NP_009178.3	Q9UMZ2	SYNRG_HUMAN	synergin, gamma	1070					endocytosis (GO:0006897)|intracellular protein transport (GO:0006886)	AP-1 adaptor complex (GO:0030121)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)	calcium ion binding (GO:0005509)			breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						AACTCCTCTTGTGTGATCCTG	0.463																																						ENST00000339208.6																			0				breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						c.(3208-3210)caC>caA		synergin, gamma							79	83	81					17																	35900638		2203	4300	6503	SO:0001583	missense	11276				endocytosis|intracellular protein transport	AP-1 adaptor complex	calcium ion binding	g.chr17:35900638G>T	AF169548	CCDS11321.1, CCDS11322.1, CCDS11322.2, CCDS54113.1, CCDS54114.1, CCDS59284.1, CCDS59285.1	17q12	2014-04-16	2009-07-20	2009-07-20	ENSG00000006114	ENSG00000275066			557	protein-coding gene	gene with protein product	"gamma-synergin", "adaptor-related protein complex 1 gamma subunit-binding protein 1"	607291	"AP1 gamma subunit binding protein 1"	AP1GBP1		10477754	Standard	XM_005256980		Approved	SYNG, MGC104959	uc010wdf.2	Q9UMZ2	OTTHUMG00000188473	ENST00000339208.6:c.3210C>A	17.37:g.35900638G>T	ENSP00000343610:p.His1070Gln					SYNRG_ENST00000591288.1_Missense_Mutation_p.H864Q|SYNRG_ENST00000346661.4_Missense_Mutation_p.H1070Q|SYNRG_ENST00000585472.1_Missense_Mutation_p.H991Q|SYNRG_ENST00000345615.4_Missense_Mutation_p.H992Q|SYNRG_ENST00000502449.2_Missense_Mutation_p.H947Q|SYNRG_ENST00000394378.2_Missense_Mutation_p.H992Q	p.H1070Q	NM_001163544.1|NM_001163545.1|NM_007247.4	NP_001157016.1|NP_001157017.1|NP_009178.3	Q9UMZ2	SYNRG_HUMAN			16	3350	-			1070					A8MWU4|B7ZKZ2|B7ZKZ3|Q17RI2|Q5BKU5|Q6ZT17	Missense_Mutation	SNP	ENST00000339208.6	37	c.3210C>A	CCDS11321.1	.	.	.	.	.	.	.	.	.	.	G	18.76	3.692252	0.68271	.	.	ENSG00000006114	ENST00000346661;ENST00000339208;ENST00000345615;ENST00000502449;ENST00000394378	T;T	0.53423	1.16;0.62	5.3	4.33	0.51752	.	0.000000	0.85682	D	0.000000	T	0.59865	0.2225	M	0.63843	1.955	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.87578	0.998;0.998;0.998;0.998;0.997;0.997	T	0.61898	-0.6968	10	0.62326	D	0.03	-9.6509	5.6946	0.17849	0.2549:0.0:0.7451:0.0	.	864;992;992;992;1070;1070	B7ZKZ2;Q9UMZ2-3;A8MWU4;Q9UMZ2-4;Q9UMZ2-5;Q9UMZ2	.;.;.;.;.;SYNRG_HUMAN	Q	1070;864;1070;992;992	ENSP00000005279:H1070Q;ENSP00000377903:H992Q	ENSP00000343610:H864Q	H	-	3	2	SYNRG	32974751	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	0.950000	0.29122	2.475000	0.83589	0.563000	0.77884	CAC		0.463	SYNRG-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256811.2	NM_007247		14	52	1	0	1.37285e-15	1	1.54446e-15	14	52					T	35900638	G	T	35900638	3	4	394	1	0	0	0	0	1	0	0	0	15457	1368	48	5	835	5	SYNRG	17	35900638	Missense_Mutation	SNP	G	TCGA-V1-A9Z9-01A-21D-A41K-08	9203623	35900638	45294572	28	19301											
HOXB2	3212	broad.mit.edu	37	chr17	46620856	46620856	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagatgtcctccagggctccCgggcaggcaggctccccatc	6	6	12	17	1	0	1	0	0	0	1	5	1	4	1	5	4	0	4	5	4	0	0			TCGA-V1-A9Z9-01A-21D-A41K-08	TCGA-V1-A9Z9-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc8adf0-d482-4acf-bdec-3b1ec93fa84c	0f9d2e65-a5bb-406e-926b-e7e7d2507d70	g.chr17:46620856C>T	ENST00000330070.4	-	2	1812	c.645G>A	c.(643-645)ccG>ccA	p.P215P	HOXB-AS1_ENST00000504972.3_RNA|HOXB-AS1_ENST00000508688.1_RNA|HOXB-AS1_ENST00000435312.1_RNA|HOXB2_ENST00000504772.3_5'Flank	NM_002145.3	NP_002136.1	P14652	HXB2_HUMAN	homeobox B2	215					anterior/posterior pattern specification (GO:0009952)|blood circulation (GO:0008015)|dorsal/ventral pattern formation (GO:0009953)|embryonic skeletal system morphogenesis (GO:0048704)|facial nerve structural organization (GO:0021612)|morphogenesis of an epithelial sheet (GO:0002011)|multicellular organismal development (GO:0007275)|neural nucleus development (GO:0048857)|rhombomere 3 development (GO:0021569)|rhombomere 4 development (GO:0021570)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	11						CCAGGGCTCCCGGGCAGGCAG	0.711																																						ENST00000330070.4																			0				NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	11						c.(643-645)ccG>ccA		homeobox B2							17	22	20					17																	46620856		1985	3924	5909	SO:0001819	synonymous_variant	3212				blood circulation	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr17:46620856C>T		CCDS11527.1	17q21.32	2012-02-22	2005-12-22		ENSG00000173917	ENSG00000173917		"Homeoboxes / ANTP class : HOXL subclass"	5113	protein-coding gene	gene with protein product		142967	"homeo box B2"	HOX2, HOX2H		1973146, 1358459	Standard	XM_005257276		Approved		uc002inm.3	P14652	OTTHUMG00000159930	ENST00000330070.4:c.645G>A	17.37:g.46620856C>T							p.P215P	NM_002145.3	NP_002136.1	P14652	HXB2_HUMAN			2	1812	-			215					P10913|P17485	Silent	SNP	ENST00000330070.4	37	c.645G>A	CCDS11527.1																																																																																				0.711	HOXB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358384.2			3	24	0	0	0	1	0	3	24					T	46620856	C	T	46620856	2	4	394	1	0	0	0	0	0	0	0	1	7301	639	23	2		2	HOXB2	17	46620856	Silent	SNP	C	TCGA-V1-A9Z9-01A-21D-A41K-08	10720218	46620856	34574354	29	19302											
MYOM1	8736	broad.mit.edu	37	chr18	3094299	3094299	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tgccaactctgatttaactgGgacagctatgaaaagtaaaa	16	10	8	7	0	1	2	0	2	1	0	1	3	1	3	1	1	4	2	1	1	7	4			TCGA-V1-A9Z9-01A-21D-A41K-08	TCGA-V1-A9Z9-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc8adf0-d482-4acf-bdec-3b1ec93fa84c	0f9d2e65-a5bb-406e-926b-e7e7d2507d70	g.chr18:3094299G>C	ENST00000356443.4	-	26	4066	c.3733C>G	c.(3733-3735)Cca>Gca	p.P1245A	MYOM1_ENST00000261606.7_Missense_Mutation_p.P1149A|RNU7-25P_ENST00000516544.1_RNA|MYOM1_ENST00000400569.3_Missense_Mutation_p.P1245A	NM_003803.3|NM_019856.1	NP_003794.3|NP_062830.1	P52179	MYOM1_HUMAN	myomesin 1	1245					muscle contraction (GO:0006936)	M band (GO:0031430)|striated muscle myosin thick filament (GO:0005863)	identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|structural constituent of muscle (GO:0008307)			NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						GATTTAACTGGGACAGCTATG	0.358																																						ENST00000400569.3																			0				NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						c.(3733-3735)Cca>Gca		myomesin 1							45	43	43					18																	3094299		1811	4075	5886	SO:0001583	missense	8736					striated muscle myosin thick filament	structural constituent of muscle	g.chr18:3094299G>C	AF185573	CCDS45823.1, CCDS45824.1	18p11.31	2014-09-17	2012-10-17		ENSG00000101605	ENSG00000101605		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	7613	protein-coding gene	gene with protein product	"skelemin"	603508	"myomesin 1 (skelemin) (185kD)", "myomesin 1 (skelemin) 185kDa", "myomesin 1, 185kDa"			9806852	Standard	NM_019856		Approved		uc002klp.3	P52179	OTTHUMG00000178209	ENST00000356443.4:c.3733C>G	18.37:g.3094299G>C	ENSP00000348821:p.Pro1245Ala					MYOM1_ENST00000261606.7_Missense_Mutation_p.P1149A|MYOM1_ENST00000356443.4_Missense_Mutation_p.P1245A	p.P1245A			P52179	MYOM1_HUMAN			26	4066	-			1245					Q14BD6|Q6H969|Q6ZUU0	Missense_Mutation	SNP	ENST00000356443.4	37	c.3733C>G	CCDS45824.1	.	.	.	.	.	.	.	.	.	.	G	15.93	2.979130	0.53827	.	.	ENSG00000101605	ENST00000356443;ENST00000400569;ENST00000261606	T;T;T	0.04758	3.56;3.56;3.56	5.55	4.67	0.58626	.	0.097634	0.64402	N	0.000001	T	0.11153	0.0272	M	0.80183	2.485	0.80722	D	1	P;B	0.39624	0.681;0.012	B;B	0.38458	0.274;0.016	T	0.02885	-1.1098	10	0.62326	D	0.03	.	16.5653	0.84577	0.0:0.1304:0.8696:0.0	.	1149;1245	P52179-2;P52179	.;MYOM1_HUMAN	A	1245;1245;1149	ENSP00000348821:P1245A;ENSP00000383413:P1245A;ENSP00000261606:P1149A	ENSP00000261606:P1149A	P	-	1	0	MYOM1	3084299	1.000000	0.71417	0.999000	0.59377	0.961000	0.63080	7.758000	0.85224	1.557000	0.49525	0.655000	0.94253	CCA		0.358	MYOM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000441037.2	NM_003803		8	13	0	0	0	1	0	8	13					C	3094299	G	C	3094299	3	2	394	1	0	0	0	0	1	0	0	0	10091	1232	43	5	1376	5	MYOM1	18	3094299	Missense_Mutation	SNP	G	TCGA-V1-A9Z9-01A-21D-A41K-08		3094299	74982949	30	19303											
GATA6	2627	broad.mit.edu	37	chr18	19752073	19752075	+	In_Frame_Del	DEL	ACC	ACC	-																															gcggccgctgaacgggacgtAccaccaccaccaccaccacc																								rs587780342		TCGA-V1-A9Z9-01A-21D-A41K-08	TCGA-V1-A9Z9-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc8adf0-d482-4acf-bdec-3b1ec93fa84c	0f9d2e65-a5bb-406e-926b-e7e7d2507d70	g.chr18:19752073_19752075delACC	ENST00000269216.3	+	2	1245_1247	c.968_970delACC	c.(967-972)taccac>tac	p.H333del	GATA6_ENST00000581694.1_In_Frame_Del_p.H333del	NM_005257.4	NP_005248.2	Q92908	GATA6_HUMAN	GATA binding protein 6	333	Poly-His.				blood coagulation (GO:0007596)|cardiac muscle cell differentiation (GO:0055007)|cardiac muscle hypertrophy in response to stress (GO:0014898)|cardiac vascular smooth muscle cell differentiation (GO:0060947)|cellular response to BMP stimulus (GO:0071773)|cellular response to gonadotropin stimulus (GO:0071371)|cellular response to hypoxia (GO:0071456)|Clara cell differentiation (GO:0060486)|endodermal cell fate determination (GO:0007493)|in utero embryonic development (GO:0001701)|intestinal epithelial cell differentiation (GO:0060575)|liver development (GO:0001889)|lung saccule development (GO:0060430)|male gonad development (GO:0008584)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta1 production (GO:0032911)|negative regulation of transforming growth factor beta2 production (GO:0032912)|organ formation (GO:0048645)|outflow tract septum morphogenesis (GO:0003148)|pancreatic A cell differentiation (GO:0003310)|phospholipid metabolic process (GO:0006644)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cardioblast differentiation (GO:0051891)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to growth factor (GO:0070848)|smooth muscle cell differentiation (GO:0051145)|transcription from RNA polymerase II promoter (GO:0006366)|tube morphogenesis (GO:0035239)|type B pancreatic cell differentiation (GO:0003309)|Type II pneumocyte differentiation (GO:0060510)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|protein kinase binding (GO:0019901)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(8)|prostate(1)|skin(1)	18	all_cancers(21;0.00271)|all_epithelial(16;7.31e-05)|Ovarian(2;0.116)|Lung NSC(20;0.123)|all_lung(20;0.246)		STAD - Stomach adenocarcinoma(5;0.106)			AACGGGACGTaccaccaccacca	0.749																																					Colon(8;48 282 46199 46856)|Melanoma(177;170 2725 12489 26999)	ENST00000269216.3																			0				NS(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(8)|prostate(1)|skin(1)	18						c.(967-972)tac>t		GATA binding protein 6				7,118,1445		1,0,5,26,66,687						2.8	1			1	3,218,2733		1,0,1,71,76,1328	no	codingComplex	GATA6	NM_005257.3		2,0,6,97,142,2015	A1A1,A1A2,A1R,A2A2,A2R,RR		7.4814,7.9618,7.6481				10,336,4178				SO:0001651	inframe_deletion	2627				blood coagulation|cardiac vascular smooth muscle cell differentiation|cellular response to hypoxia|intestinal epithelial cell differentiation|male gonad development|negative regulation of apoptosis|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor-beta1 production|negative regulation of transforming growth factor-beta2 production|outflow tract septum morphogenesis|positive regulation of angiogenesis|positive regulation of cell cycle arrest|positive regulation of transcription from RNA polymerase II promoter|response to drug|response to growth factor stimulus		protein binding|protein kinase binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding	g.chr18:19752073_19752075delACC	U66075	CCDS11872.1	18q11-q12	2013-01-25	2001-11-28		ENSG00000141448	ENSG00000141448		"GATA zinc finger domain containing"	4174	protein-coding gene	gene with protein product		601656	"GATA-binding protein 6"			8975704	Standard	XM_005258248		Approved		uc002ktt.2	Q92908	OTTHUMG00000131767	ENST00000269216.3:c.968_970delACC	18.37:g.19752082_19752084delACC	ENSP00000269216:p.His333del					GATA6_ENST00000581694.1_In_Frame_Del_p.YH323del	p.YH323del	NM_005257.4	NP_005248.2	Q92908	GATA6_HUMAN	STAD - Stomach adenocarcinoma(5;0.106)		2	1245_1247	+	all_cancers(21;0.00271)|all_epithelial(16;7.31e-05)|Ovarian(2;0.116)|Lung NSC(20;0.123)|all_lung(20;0.246)		323					B0YJ17|P78327	In_Frame_Del	DEL	ENST00000269216.3	37	c.968_970delACC	CCDS11872.1																																																																																				0.749	GATA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254696.1	NM_005257		2	4						2	4	---	---	---	---	-	19752075	ACC	-	19752073	7	5	394	1	0	1	0	1	0	0	0	0	6258	391	14	0	970	0	GATA6	18	19752073	In_Frame_Del	DEL	ACC	TCGA-V1-A9Z9-01A-21D-A41K-08	16657774	19752073	58325175	31	19304											
SERPINB5	5268	broad.mit.edu	37	chr18	61156685	61156685	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agatcaacaactcaattaagGatctcacagatggcaagtac	17	8	7	9	0	3	2	3	0	1	2	4	3	3	3	0	2	3	2	0	2	6	2			TCGA-V1-A9Z9-01A-21D-A41K-08	TCGA-V1-A9Z9-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc8adf0-d482-4acf-bdec-3b1ec93fa84c	0f9d2e65-a5bb-406e-926b-e7e7d2507d70	g.chr18:61156685G>T	ENST00000382771.4	+	4	704	c.412G>T	c.(412-414)Gat>Tat	p.D138Y	SERPINB5_ENST00000489441.1_Missense_Mutation_p.D138Y	NM_002639.4	NP_002630.2	P36952	SPB5_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 5	138					cellular component movement (GO:0006928)|extracellular matrix organization (GO:0030198)|morphogenesis of an epithelium (GO:0002009)|negative regulation of endopeptidase activity (GO:0010951)|prostate gland morphogenesis (GO:0060512)|regulation of epithelial cell proliferation (GO:0050678)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase inhibitor activity (GO:0004867)			kidney(3)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)	12						CTCAATTAAGGATCTCACAGA	0.383																																						ENST00000382771.4																			0				kidney(3)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)	12						c.(412-414)Gat>Tat		serpin peptidase inhibitor, clade B (ovalbumin), member 5							120	112	115					18																	61156685		2203	4300	6503	SO:0001583	missense	5268				cellular component movement|regulation of proteolysis	cytoplasm|extracellular space	protein binding|serine-type endopeptidase inhibitor activity	g.chr18:61156685G>T	U04313	CCDS32839.1	18q21.33	2014-02-18	2005-08-18		ENSG00000206075	ENSG00000206075		"Serine (or cysteine) peptidase inhibitors"	8949	protein-coding gene	gene with protein product	"protease inhibitor 5 (maspin)"	154790	"serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 5"	PI5		8290962, 7724531, 16720730, 24172014	Standard	NM_002639		Approved	maspin	uc002liz.4	P36952	OTTHUMG00000141307	ENST00000382771.4:c.412G>T	18.37:g.61156685G>T	ENSP00000372221:p.Asp138Tyr					SERPINB5_ENST00000489441.1_Missense_Mutation_p.D138Y	p.D138Y	NM_002639.4	NP_002630.2	P36952	SPB5_HUMAN			4	704	+			138					B2R6Y4|Q6N0B4|Q8WW89	Missense_Mutation	SNP	ENST00000382771.4	37	c.412G>T	CCDS32839.1	.	.	.	.	.	.	.	.	.	.	G	19.08	3.758263	0.69763	.	.	ENSG00000206075	ENST00000382771	D	0.84873	-1.91	5.75	5.75	0.90469	Serpin domain (3);	0.416076	0.25830	N	0.028037	D	0.91112	0.7202	M	0.73962	2.25	0.45415	D	0.998392	P;D	0.58970	0.885;0.984	P;P	0.57204	0.772;0.815	D	0.91283	0.5053	10	0.72032	D	0.01	.	19.907	0.97012	0.0:0.0:1.0:0.0	.	138;138	P36952;P36952-2	SPB5_HUMAN;.	Y	138	ENSP00000372221:D138Y	ENSP00000372221:D138Y	D	+	1	0	SERPINB5	59307665	1.000000	0.71417	0.998000	0.56505	0.989000	0.77384	3.874000	0.56101	2.880000	0.98712	0.655000	0.94253	GAT		0.383	SERPINB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280629.1	NM_002639		3	44	1	0	0.000602214	1	0.000630224	3	44					T	61156685	G	T	61156685	3	4	394	1	0	0	0	0	1	0	0	0	14104	1174	41	5	422	5	SERPINB5	18	61156685	Missense_Mutation	SNP	G	TCGA-V1-A9Z9-01A-21D-A41K-08	41404612	61156685	16920563	32	19305											
APBA3	9546	broad.mit.edu	37	chr19	3760228	3760228	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ccaagtccatggctggaggcCccgaaggggatcgggaaatt	10	6	15	10	2	0	0	0	0	0	0	2	4	1	3	4	6	0	1	4	6	3	1			TCGA-V1-A9Z9-01A-21D-A41K-08	TCGA-V1-A9Z9-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc8adf0-d482-4acf-bdec-3b1ec93fa84c	0f9d2e65-a5bb-406e-926b-e7e7d2507d70	g.chr19:3760228C>T	ENST00000316757.3	-	2	235	c.35G>A	c.(34-36)gGg>gAg	p.G12E	MRPL54_ENST00000330133.4_5'Flank	NM_004886.3	NP_004877.1	O96018	APBA3_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 3	12					in utero embryonic development (GO:0001701)|negative regulation of catalytic activity (GO:0043086)|protein transport (GO:0015031)|regulation of gene expression (GO:0010468)|synaptic transmission (GO:0007268)	perinuclear region of cytoplasm (GO:0048471)	beta-amyloid binding (GO:0001540)|enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)			endometrium(1)|large_intestine(1)|skin(1)	3		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00467)|STAD - Stomach adenocarcinoma(1328;0.18)		GGCTGGAGGCCCCGAAGGGGA	0.622																																						ENST00000316757.3																			0				endometrium(1)|large_intestine(1)|skin(1)	3						c.(34-36)gGg>gAg		amyloid beta (A4) precursor protein-binding, family A, member 3							20	24	23					19																	3760228		2178	4268	6446	SO:0001583	missense	9546				intracellular signal transduction|protein transport	intracellular|membrane	protein binding	g.chr19:3760228C>T	AB021638	CCDS12110.1	19p13.3	2008-07-18	2008-07-18			ENSG00000011132			580	protein-coding gene	gene with protein product	"X11-like 2"	604262				10049767	Standard	NM_004886		Approved	X11L2, mint3	uc002lyp.1	O96018		ENST00000316757.3:c.35G>A	19.37:g.3760228C>T	ENSP00000315136:p.Gly12Glu						p.G12E	NM_004886.3	NP_004877.1	O96018	APBA3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00467)|STAD - Stomach adenocarcinoma(1328;0.18)	2	235	-		Hepatocellular(1079;0.137)	12					O60483|Q9UPZ2	Missense_Mutation	SNP	ENST00000316757.3	37	c.35G>A	CCDS12110.1	.	.	.	.	.	.	.	.	.	.	C	7.609	0.674440	0.14841	.	.	ENSG00000011132	ENST00000316757	T	0.47528	0.84	4.73	1.04	0.20106	.	0.940149	0.08769	N	0.896650	T	0.29491	0.0735	L	0.27053	0.805	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.21930	-1.0231	10	0.28530	T	0.3	.	3.0292	0.06101	0.0:0.4692:0.2333:0.2976	.	12	O96018	APBA3_HUMAN	E	12	ENSP00000315136:G12E	ENSP00000315136:G12E	G	-	2	0	APBA3	3711228	0.000000	0.05858	0.071000	0.20095	0.047000	0.14425	-0.370000	0.07523	0.414000	0.25790	0.561000	0.74099	GGG		0.622	APBA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453634.2			4	19	0	0	0	1	0	4	19					T	3760228	C	T	3760228	3	4	394	1	0	0	0	0	1	0	0	0	758	623	22	3	1732	3	APBA3	19	3760228	Missense_Mutation	SNP	C	TCGA-V1-A9Z9-01A-21D-A41K-08		3760228	55368755	33	19306											
OR10H3	26532	broad.mit.edu	37	chr19	15852910	15852910	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	attccttctgctgagggccgGcacaagactttctccacttg	7	12	9	13	1	2	2	0	1	2	1	4	2	3	2	3	2	1	2	3	2	1	4			TCGA-V1-A9Z9-01A-21D-A41K-08	TCGA-V1-A9Z9-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc8adf0-d482-4acf-bdec-3b1ec93fa84c	0f9d2e65-a5bb-406e-926b-e7e7d2507d70	g.chr19:15852910G>A	ENST00000305892.1	+	1	708	c.708G>A	c.(706-708)cgG>cgA	p.R236R		NM_013938.1	NP_039226.1	O60404	O10H3_HUMAN	olfactory receptor, family 10, subfamily H, member 3	236						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(2)|endometrium(1)|kidney(2)|large_intestine(1)|liver(1)|lung(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17						CTGAGGGCCGGCACAAGACTT	0.502																																						ENST00000305892.1																			0				cervix(2)|endometrium(1)|kidney(2)|large_intestine(1)|liver(1)|lung(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17						c.(706-708)cgG>cgA		olfactory receptor, family 10, subfamily H, member 3							218	192	201					19																	15852910		2203	4300	6503	SO:0001819	synonymous_variant	26532				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr19:15852910G>A		CCDS12334.1	19p13.1	2012-08-09				ENSG00000171936		"GPCR / Class A : Olfactory receptors"	8174	protein-coding gene	gene with protein product							Standard	NM_013938		Approved		uc010xoq.2	O60404		ENST00000305892.1:c.708G>A	19.37:g.15852910G>A							p.R236R	NM_013938.1	NP_039226.1	O60404	O10H3_HUMAN			1	708	+			236					Q2HIZ3|Q6IFQ0	Silent	SNP	ENST00000305892.1	37	c.708G>A	CCDS12334.1																																																																																				0.502	OR10H3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460918.1			4	117	0	0	0	1	0	4	117					A	15852910	G	A	15852910	2	1	394	1	0	0	0	0	0	0	0	1	10907	1190	42	3		3	OR10H3	19	15852910	Silent	SNP	G	TCGA-V1-A9Z9-01A-21D-A41K-08	12092682	15852910	43276073	34	19307											
FCGBP	8857	broad.mit.edu	37	chr19	40366423	40366423	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacagagagaggccgcgtacGccgccggcacgcgcaggcgc	8	1	16	16	8	0	2	0	0	0	2	0	3	0	2	3	3	1	3	3	3	1	1			TCGA-V1-A9Z9-01A-21D-A41K-08	TCGA-V1-A9Z9-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc8adf0-d482-4acf-bdec-3b1ec93fa84c	0f9d2e65-a5bb-406e-926b-e7e7d2507d70	g.chr19:40366423G>A	ENST00000221347.6	-	30	13818	c.13811C>T	c.(13810-13812)gCg>gTg	p.A4604V		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	4604	VWFD 11. {ECO:0000255|PROSITE- ProRule:PRU00580}.					extracellular vesicular exosome (GO:0070062)				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			GGCCGCGTACGCCGCCGGCAC	0.682																																						ENST00000221347.6																			0				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165						c.(13810-13812)gCg>gTg		Fc fragment of IgG binding protein							49	55	53					19																	40366423		2203	4299	6502	SO:0001583	missense	8857					extracellular region	protein binding	g.chr19:40366423G>A	D84239		19q13.2	2013-09-20			ENSG00000090920	ENSG00000275395			13572	protein-coding gene	gene with protein product	"IgG Fc binding protein", "Human Fc gamma BP"					9182547	Standard	NM_003890		Approved	FC(GAMMA)BP	uc002omp.4	Q9Y6R7	OTTHUMG00000182580	ENST00000221347.6:c.13811C>T	19.37:g.40366423G>A	ENSP00000221347:p.Ala4604Val						p.A4604V	NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)		30	13818	-	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		4604			VWFD 11.		O95784	Missense_Mutation	SNP	ENST00000221347.6	37	c.13811C>T	CCDS12546.1	.	.	.	.	.	.	.	.	.	.	G	10.16	1.274717	0.23307	.	.	ENSG00000090920	ENST00000221347	T	0.59906	0.23	4.32	2.14	0.27477	von Willebrand factor, type D domain (3);	0.351880	0.25487	N	0.030331	T	0.44787	0.1310	L	0.46819	1.47	0.09310	N	1	B	0.30179	0.271	B	0.24006	0.05	T	0.27262	-1.0079	10	0.33940	T	0.23	.	9.4695	0.38833	0.1811:0.0:0.8189:0.0	.	4604	Q9Y6R7	FCGBP_HUMAN	V	4604	ENSP00000221347:A4604V	ENSP00000221347:A4604V	A	-	2	0	FCGBP	45058263	0.000000	0.05858	0.019000	0.16419	0.182000	0.23217	0.418000	0.21230	0.553000	0.29044	0.305000	0.20034	GCG		0.682	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462507.1	NM_003890		18	59	0	0	0	1	0	18	59					A	40366423	G	A	40366423	3	1	394	1	0	0	0	0	1	0	0	0	5778	1087	38	1	2434	1	FCGBP	19	40366423	Missense_Mutation	SNP	G	TCGA-V1-A9Z9-01A-21D-A41K-08	24513513	40366423	18762560	35	19308											
SPTBN4	57731	broad.mit.edu	37	chr19	41077968	41077968	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tgcttagtaagggggaactgGgcttctacaaggactccaag	11	9	13	8	0	1	0	0	0	1	0	2	2	2	2	1	4	3	3	1	4	6	4			TCGA-V1-A9Z9-01A-21D-A41K-08	TCGA-V1-A9Z9-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc8adf0-d482-4acf-bdec-3b1ec93fa84c	0f9d2e65-a5bb-406e-926b-e7e7d2507d70	g.chr19:41077968G>A	ENST00000352632.3	+	34	7449	c.7363G>A	c.(7363-7365)Ggc>Agc	p.G2455S	SPTBN4_ENST00000598249.1_Missense_Mutation_p.G2455S|SPTBN4_ENST00000593816.1_3'UTR|SPTBN4_ENST00000392025.1_Missense_Mutation_p.G1198S			Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4	2455	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				actin filament capping (GO:0051693)|adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cardiac conduction (GO:0061337)|central nervous system projection neuron axonogenesis (GO:0021952)|clustering of voltage-gated sodium channels (GO:0045162)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization to plasma membrane (GO:0090002)|fertilization (GO:0009566)|negative regulation of heart rate (GO:0010459)|positive regulation of multicellular organism growth (GO:0040018)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of sodium ion transport (GO:0002028)|sensory perception of sound (GO:0007605)|transmission of nerve impulse (GO:0019226)|vesicle-mediated transport (GO:0016192)	adherens junction (GO:0005912)|axon hillock (GO:0043203)|axon initial segment (GO:0043194)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|nuclear matrix (GO:0016363)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|PML body (GO:0016605)|spectrin (GO:0008091)	actin binding (GO:0003779)|ankyrin binding (GO:0030506)|phosphatase binding (GO:0019902)|phospholipid binding (GO:0005543)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			GGGGGAACTGGGCTTCTACAA	0.602																																						ENST00000352632.3																			0				breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73						c.(7363-7365)Ggc>Agc		spectrin, beta, non-erythrocytic 4							193	205	201					19																	41077968		2203	4300	6503	SO:0001583	missense	57731				actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport	cytosol|nuclear matrix|PML body|spectrin	actin binding|ankyrin binding|structural constituent of cytoskeleton	g.chr19:41077968G>A	AF082075	CCDS12559.1, CCDS42569.1	19q13.13	2013-01-10				ENSG00000160460		"Pleckstrin homology (PH) domain containing"	14896	protein-coding gene	gene with protein product		606214				11086001	Standard	NM_020971		Approved	SPTBN3, KIAA1642	uc002onz.3	Q9H254		ENST00000352632.3:c.7363G>A	19.37:g.41077968G>A	ENSP00000263373:p.Gly2455Ser					SPTBN4_ENST00000593816.1_3'UTR|SPTBN4_ENST00000392025.1_Missense_Mutation_p.G1198S|SPTBN4_ENST00000598249.1_Missense_Mutation_p.G2455S	p.G2455S			Q9H254	SPTN4_HUMAN	Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)		34	7449	+			2455			PH.		E9PGQ5|Q9H1K7|Q9H1K8|Q9H1K9|Q9H253|Q9H3G8|Q9HCD0	Missense_Mutation	SNP	ENST00000352632.3	37	c.7363G>A	CCDS12559.1	.	.	.	.	.	.	.	.	.	.	G	25.2	4.614597	0.87359	.	.	ENSG00000160460	ENST00000428507;ENST00000352632;ENST00000392025	T;T	0.29142	1.58;1.58	5.16	5.16	0.70880	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.64402	U	0.000007	T	0.44705	0.1306	L	0.35487	1.065	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.10730	-1.0617	10	0.25751	T	0.34	.	17.5798	0.87963	0.0:0.0:1.0:0.0	.	1198;2455	C9JY79;Q9H254	.;SPTN4_HUMAN	S	2455;2455;1198	ENSP00000263373:G2455S;ENSP00000375879:G1198S	ENSP00000263373:G2455S	G	+	1	0	SPTBN4	45769808	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.505000	0.97989	2.692000	0.91855	0.563000	0.77884	GGC		0.602	SPTBN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462559.2			4	251	0	0	0	1	0	4	251					A	41077968	G	A	41077968	3	1	394	1	0	0	0	0	1	0	0	0	15120	1232	43	3	7587	3	SPTBN4	19	41077968	Missense_Mutation	SNP	G	TCGA-V1-A9Z9-01A-21D-A41K-08	711545	41077968	18051015	36	19309											
LAIR2	3904	broad.mit.edu	37	chr19	55019333	55019333	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aaggaaatgccgggctttatCgctgcctctattataagccc	10	11	9	11	2	1	0	0	0	1	0	2	1	1	1	3	2	3	2	3	2	6	5			TCGA-V1-A9Z9-01A-21D-A41K-08	TCGA-V1-A9Z9-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc8adf0-d482-4acf-bdec-3b1ec93fa84c	0f9d2e65-a5bb-406e-926b-e7e7d2507d70	g.chr19:55019333C>T	ENST00000301202.2	+	3	420	c.298C>T	c.(298-300)Cgc>Tgc	p.R100C	LAIR2_ENST00000351841.2_Missense_Mutation_p.R100C	NM_002288.4	NP_002279.2	Q6ISS4	LAIR2_HUMAN	leukocyte-associated immunoglobulin-like receptor 2	100	Ig-like C2-type.					extracellular region (GO:0005576)				central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(1)	18	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0967)		CGGGCTTTATCGCTGCCTCTA	0.502																																						ENST00000301202.2																			0				central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(1)	18						c.(298-300)Cgc>Tgc		leukocyte-associated immunoglobulin-like receptor 2							121	112	115					19																	55019333		2203	4300	6503	SO:0001583	missense	3904					extracellular region	receptor activity	g.chr19:55019333C>T	AF013250	CCDS12897.1, CCDS12898.1	19q13.4	2013-01-29	2006-03-23		ENSG00000167618	ENSG00000167618		"Leukocyte-associated Ig like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6478	protein-coding gene	gene with protein product		602993	"leukocyte-associated Ig-like receptor 2"			9285412	Standard	XM_005277264		Approved	CD306	uc002qgc.3	Q6ISS4	OTTHUMG00000065697	ENST00000301202.2:c.298C>T	19.37:g.55019333C>T	ENSP00000301202:p.Arg100Cys					LAIR2_ENST00000351841.2_Missense_Mutation_p.R100C	p.R100C	NM_002288.4	NP_002279.2	Q6ISS4	LAIR2_HUMAN		GBM - Glioblastoma multiforme(193;0.0967)	3	420	+	Ovarian(34;0.19)		100			Ig-like C2-type.		Q6PEZ4	Missense_Mutation	SNP	ENST00000301202.2	37	c.298C>T	CCDS12897.1	.	.	.	.	.	.	.	.	.	.	C	15.32	2.797964	0.50208	.	.	ENSG00000167618	ENST00000301202;ENST00000351841	T;T	0.14266	2.52;2.52	3.63	-7.25	0.01470	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	1.847140	0.02895	N	0.134581	T	0.30230	0.0758	M	0.86573	2.825	0.09310	N	1	D;D	0.89917	1.0;1.0	P;P	0.62885	0.855;0.908	T	0.56571	-0.7957	9	.	.	.	.	0.1602	0.00102	0.2581:0.176:0.2568:0.3091	.	100;100	Q6ISS4-2;Q6ISS4	.;LAIR2_HUMAN	C	100	ENSP00000301202:R100C;ENSP00000301203:R100C	.	R	+	1	0	LAIR2	59711145	0.000000	0.05858	0.000000	0.03702	0.051000	0.14879	-1.253000	0.02877	-1.354000	0.02188	0.313000	0.20887	CGC		0.502	LAIR2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000140801.1			33	65	0	0	0	1	0	33	65					T	55019333	C	T	55019333	3	4	394	1	0	0	0	0	1	0	0	0	8603	884	31	2	308	2	LAIR2	19	55019333	Missense_Mutation	SNP	C	TCGA-V1-A9Z9-01A-21D-A41K-08	13941365	55019333	4109650	37	19310											
LILRB4	11006	broad.mit.edu	37	chr19	55175919	55175919	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcacaccccagtgacccccTggagctcatagtctcaggtg	8	8	10	15	0	3	1	3	1	1	0	4	2	3	2	4	2	1	1	4	2	1	1			TCGA-V1-A9Z9-01A-21D-A41K-08	TCGA-V1-A9Z9-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc8adf0-d482-4acf-bdec-3b1ec93fa84c	0f9d2e65-a5bb-406e-926b-e7e7d2507d70	g.chr19:55175919T>A	ENST00000391736.1	+	6	953	c.638T>A	c.(637-639)cTg>cAg	p.L213Q	LILRB4_ENST00000391733.3_Missense_Mutation_p.L213Q|LILRB4_ENST00000391734.3_Missense_Mutation_p.L213Q|LILRB4_ENST00000270452.2_Missense_Mutation_p.L213Q|LILRB4_ENST00000430952.2_Missense_Mutation_p.L213Q	NM_001278426.2|NM_001278428.2|NM_001278429.2|NM_001278430.2	NP_001265355.1|NP_001265357.1|NP_001265358.1|NP_001265359.1	Q8NHJ6	LIRB4_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 4	213	Ig-like C2-type 2.				immune system process (GO:0002376)|negative regulation of osteoclast differentiation (GO:0045671)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)|receptor activity (GO:0004872)			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(20)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)	39				GBM - Glioblastoma multiforme(193;0.035)		AGTGACCCCCTGGAGCTCATA	0.617																																						ENST00000391736.1																			0				breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(20)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)	39						c.(637-639)cTg>cAg		leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 4							56	57	57					19																	55175919		2203	4300	6503	SO:0001583	missense	0					integral to membrane|plasma membrane	antigen binding|receptor activity	g.chr19:55175919T>A	U82979	CCDS12902.1, CCDS42618.1	19q13.4	2013-01-11				ENSG00000186818		"Leukocyte immunoglobulin-like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6608	protein-coding gene	gene with protein product		604821				9151699, 9079806	Standard	XM_005277050		Approved	LIR-5, ILT3, HM18, LIR5, CD85k	uc002qgp.3	Q8NHJ6		ENST00000391736.1:c.638T>A	19.37:g.55175919T>A	ENSP00000375616:p.Leu213Gln					LILRB4_ENST00000391733.3_Missense_Mutation_p.L213Q|LILRB4_ENST00000270452.2_Missense_Mutation_p.L213Q|LILRB4_ENST00000391734.3_Missense_Mutation_p.L213Q|LILRB4_ENST00000430952.2_Missense_Mutation_p.L213Q	p.L213Q	NM_001278426.2|NM_001278428.2|NM_001278429.2|NM_001278430.2	NP_001265355.1|NP_001265357.1|NP_001265358.1|NP_001265359.1	Q8NHJ6	LIRB4_HUMAN		GBM - Glioblastoma multiforme(193;0.035)	6	953	+			213			Ig-like C2-type 2.		A8MVL8|O15468|O75021|Q6FGQ9|Q8N1C7|Q8NHL5	Missense_Mutation	SNP	ENST00000391736.1	37	c.638T>A	CCDS12902.1	.	.	.	.	.	.	.	.	.	.	T	11.41	1.629619	0.28978	.	.	ENSG00000186818	ENST00000391736;ENST00000270452;ENST00000430952;ENST00000391734;ENST00000391733;ENST00000434286	T;T;T;T;T;T	0.01034	5.42;5.42;5.42;5.42;5.42;5.42	2.63	1.57	0.23409	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.05502	0.0145	M	0.91090	3.175	0.09310	N	1	D;D;D;D;D	0.89917	0.997;0.998;0.992;1.0;1.0	D;D;D;D;D	0.81914	0.933;0.954;0.943;0.995;0.98	T	0.21793	-1.0235	9	0.56958	D	0.05	.	4.4091	0.11423	0.0:0.1731:0.0:0.8269	.	213;213;213;213;213	A8MUE1;C9JST2;Q8NHJ6-3;Q8NHJ6-2;Q8NHJ6	.;.;.;.;LIRB4_HUMAN	Q	213	ENSP00000375616:L213Q;ENSP00000270452:L213Q;ENSP00000408995:L213Q;ENSP00000375614:L213Q;ENSP00000375613:L213Q;ENSP00000401962:L213Q	ENSP00000270452:L213Q	L	+	2	0	LILRB4	59867731	0.058000	0.20735	0.012000	0.15200	0.013000	0.08279	1.453000	0.35167	0.237000	0.21200	0.329000	0.21502	CTG		0.617	LILRB4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000141127.3			25	48	0	0	0	1	0	25	48					A	55175919	T	A	55175919	3	1	394	1	0	0	0	0	1	0	0	0	8793	1580	55	5	652	5	LILRB4	19	55175919	Missense_Mutation	SNP	T	TCGA-V1-A9Z9-01A-21D-A41K-08	156586	55175919	3953064	38	19311											
ZHX3	23051	broad.mit.edu	37	chr20	39831315	39831315	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcatcctcagggtcacaggCacccagccctggaatctcgt	9	8	9	15	1	4	0	3	0	1	0	6	1	5	1	3	3	1	1	3	3	1	0	rs577676660	byFrequency	TCGA-V1-A9Z9-01A-21D-A41K-08	TCGA-V1-A9Z9-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc8adf0-d482-4acf-bdec-3b1ec93fa84c	0f9d2e65-a5bb-406e-926b-e7e7d2507d70	g.chr20:39831315C>A	ENST00000309060.3	-	4	2657	c.2242G>T	c.(2242-2244)Gcc>Tcc	p.A748S	ZHX3_ENST00000559234.1_Missense_Mutation_p.A748S|ZHX3_ENST00000560361.1_Missense_Mutation_p.A748S|ZHX3_ENST00000432768.2_Missense_Mutation_p.A748S|ZHX3_ENST00000540170.1_Missense_Mutation_p.A748S|ZHX3_ENST00000558993.1_Intron|ZHX3_ENST00000557816.1_Intron|ZHX3_ENST00000544979.2_Missense_Mutation_p.A748S			Q9H4I2	ZHX3_HUMAN	zinc fingers and homeoboxes 3	748					cell differentiation (GO:0030154)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of osteoblast differentiation (GO:0045669)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			endometrium(2)|kidney(5)|large_intestine(8)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	31		Myeloproliferative disorder(115;0.00425)				GGGTCACAGGCACCCAGCCCT	0.547																																						ENST00000309060.3																			0				endometrium(2)|kidney(5)|large_intestine(8)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	31						c.(2242-2244)Gcc>Tcc		zinc fingers and homeoboxes 3							80	79	79					20																	39831315		2203	4300	6503	SO:0001583	missense	23051				negative regulation of transcription, DNA-dependent	cytoplasm|nucleolus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr20:39831315C>A	AB007855	CCDS13315.1	20q12	2012-03-09	2004-01-29	2004-01-30	ENSG00000174306	ENSG00000174306		"Zinc fingers, C2H2-type", "Homeoboxes / ZF class"	15935	protein-coding gene	gene with protein product		609598	"triple homeobox 1"	TIX1		9455477	Standard	XM_005260343		Approved	KIAA0395	uc002xjs.1	Q9H4I2	OTTHUMG00000032481	ENST00000309060.3:c.2242G>T	20.37:g.39831315C>A	ENSP00000312222:p.Ala748Ser					ZHX3_ENST00000558993.1_Intron|ZHX3_ENST00000544979.2_Missense_Mutation_p.A748S|ZHX3_ENST00000560361.1_Missense_Mutation_p.A748S|ZHX3_ENST00000540170.1_Missense_Mutation_p.A748S|ZHX3_ENST00000557816.1_Intron|ZHX3_ENST00000432768.2_Missense_Mutation_p.A748S|ZHX3_ENST00000559234.1_Missense_Mutation_p.A748S	p.A748S			Q9H4I2	ZHX3_HUMAN			4	2657	-		Myeloproliferative disorder(115;0.00425)	748					E1P5W5|F5H820|O43145|Q6NUJ7	Missense_Mutation	SNP	ENST00000309060.3	37	c.2242G>T	CCDS13315.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	0.327|0.327	-0.958205|-0.958205	0.02267|0.02267	.|.	.|.	ENSG00000174306|ENSG00000174306	ENST00000309060;ENST00000373263;ENST00000540170;ENST00000544979;ENST00000373262|ENST00000421422	T;T;T|.	0.11712|.	2.96;2.96;2.75|.	6.07|6.07	-0.654|-0.654	0.11443|0.11443	.|.	1.749050|.	0.02800|.	N|.	0.123043|.	T|T	0.36468|0.36468	0.0968|0.0968	L|L	0.47716|0.47716	1.5|1.5	0.09310|0.09310	N|N	1|1	B;B;B|.	0.22983|.	0.026;0.075;0.078|.	B;B;B|.	0.24394|.	0.008;0.021;0.053|.	T|T	0.33240|0.33240	-0.9876|-0.9876	10|5	0.07482|.	T|.	0.82|.	0.0106|0.0106	6.6797|6.6797	0.23113|0.23113	0.0:0.4888:0.1119:0.3993|0.0:0.4888:0.1119:0.3993	.|.	748;748;748|.	A8K8Q0;Q9H4I2;F5H820|.	.;ZHX3_HUMAN;.|.	S|F	748;748;748;748;526|456	ENSP00000362360:A748S;ENSP00000442290:A748S;ENSP00000443783:A748S|.	ENSP00000312222:A748S|.	A|C	-|-	1|2	0|0	ZHX3|ZHX3	39264729|39264729	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.096000|0.096000	0.18686|0.18686	-1.147000|-1.147000	0.03188|0.03188	-0.326000|-0.326000	0.08564|0.08564	-0.345000|-0.345000	0.07892|0.07892	GCC|TGC		0.547	ZHX3-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079262.3	NM_015035		5	68	1	0	0.0215528	1	0.0220426	5	68					A	39831315	C	A	39831315	3	1	394	1	0	0	0	0	1	0	0	0	17674	710	25	5	636	5	ZHX3	20	39831315	Missense_Mutation	SNP	C	TCGA-V1-A9Z9-01A-21D-A41K-08		39831315	23194205	39	19312											
TP53TG5	27296	broad.mit.edu	37	chr20	44003691	44003691	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	acacccaccttgtatggatgCcacataggcatttcaagtga	12	10	8	11	0	1	1	1	1	0	0	1	2	1	2	3	2	1	2	3	2	3	4			TCGA-V1-A9Z9-01A-21D-A41K-08	TCGA-V1-A9Z9-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc8adf0-d482-4acf-bdec-3b1ec93fa84c	0f9d2e65-a5bb-406e-926b-e7e7d2507d70	g.chr20:44003691C>T	ENST00000372726.3	-	4	912	c.756G>A	c.(754-756)tgG>tgA	p.W252*	TP53TG5_ENST00000494455.1_5'Flank|SYS1-DBNDD2_ENST00000475242.1_Intron|SYS1-DBNDD2_ENST00000452133.1_Intron|TP53TG5_ENST00000537995.1_Nonsense_Mutation_p.W236*|SYS1_ENST00000426004.1_3'UTR	NM_014477.2	NP_055292.1	Q9Y2B4	T53G5_HUMAN	TP53 target 5	252					intracellular signal transduction (GO:0035556)|negative regulation of cell growth (GO:0030308)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(2)|prostate(2)|upper_aerodigestive_tract(1)	12						TGTATGGATGCCACATAGGCA	0.612																																						ENST00000372726.3																			0				central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(2)|prostate(2)|upper_aerodigestive_tract(1)	12						c.(754-756)tgG>tgA		TP53 target 5							70	67	68					20																	44003691		2202	4300	6502	SO:0001587	stop_gained	27296				intracellular signal transduction|negative regulation of cell growth	cytoplasm|nucleus		g.chr20:44003691C>T	AB017802	CCDS13352.1	20q13.12	2008-09-18	2008-09-18	2008-09-18	ENSG00000124251	ENSG00000124251			15856	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 10"	C20orf10			Standard	NM_014477		Approved	CLG01, dJ453C12.5	uc002xny.3	Q9Y2B4	OTTHUMG00000032582	ENST00000372726.3:c.756G>A	20.37:g.44003691C>T	ENSP00000361811:p.Trp252*					SYS1-DBNDD2_ENST00000475242.1_Intron|SYS1-DBNDD2_ENST00000452133.1_Intron|TP53TG5_ENST00000537995.1_Nonsense_Mutation_p.W236*|SYS1_ENST00000426004.1_3'UTR	p.W252*	NM_014477.2	NP_055292.1	Q9Y2B4	T53G5_HUMAN			4	912	-			252						Nonsense_Mutation	SNP	ENST00000372726.3	37	c.756G>A	CCDS13352.1	.	.	.	.	.	.	.	.	.	.	C	16.39	3.110240	0.56398	.	.	ENSG00000124251	ENST00000372726;ENST00000537995	.	.	.	5.46	-0.0299	0.13916	.	1.535550	0.03442	N	0.209457	.	.	.	.	.	.	0.49687	D	0.999818	.	.	.	.	.	.	.	.	.	.	0.38643	T	0.18	8.7704	6.1582	0.20350	0.3184:0.1384:0.5433:0.0	.	.	.	.	X	252;236	.	ENSP00000361811:W252X	W	-	3	0	TP53TG5	43437105	0.206000	0.23470	0.002000	0.10522	0.025000	0.11179	1.440000	0.35024	0.145000	0.18977	-1.085000	0.02201	TGG		0.612	TP53TG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079460.1	NM_014477		3	67	0	0	0	1	0	3	67					T	44003691	C	T	44003691	4	4	394	1	0	0	0	0	0	1	0	0	16388	740	26	3	124	3	TP53TG5	20	44003691	Nonsense_Mutation	SNP	C	TCGA-V1-A9Z9-01A-21D-A41K-08	4172376	44003691	19021829	40	19313											
EWSR1	2130	broad.mit.edu	37	chr22	29682971	29682971	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttactctcagcagaacacctAtgggcaaccgagcagctatg	12	8	9	12	1	1	1	1	0	1	1	2	2	1	1	2	1	6	4	2	1	5	3			TCGA-V1-A9Z9-01A-21D-A41K-08	TCGA-V1-A9Z9-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc8adf0-d482-4acf-bdec-3b1ec93fa84c	0f9d2e65-a5bb-406e-926b-e7e7d2507d70	g.chr22:29682971A>T	ENST00000397938.2	+	7	960	c.641A>T	c.(640-642)tAt>tTt	p.Y214F	EWSR1_ENST00000414183.2_Missense_Mutation_p.Y220F|EWSR1_ENST00000332035.6_Missense_Mutation_p.Y158F|EWSR1_ENST00000332050.6_Missense_Mutation_p.Y214F|EWSR1_ENST00000406548.1_Missense_Mutation_p.Y214F|EWSR1_ENST00000333395.6_Missense_Mutation_p.Y214F|EWSR1_ENST00000331029.7_Missense_Mutation_p.Y214F	NM_001163285.1|NM_001163286.1|NM_005243.3|NM_013986.3	NP_001156757.1|NP_001156758.1|NP_005234.1|NP_053733.2	Q01844	EWS_HUMAN	EWS RNA-binding protein 1	214	31 X approximate tandem repeats.|EAD (Gln/Pro/Thr-rich).				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)		EWSR1/ATF1(347)|EWSR1/POU5F1(10)|EWSR1/PBX1(3)|EWSR1/DDIT3(45)|EWSR1/FEV(11)|EWSR1/CREB1(44)|EWSR1/SMARCA5(2)|EWSR1/ETV4(6)|EWSR1/ERG(178)|EWSR1/ZNF384(4)|EWSR1/ETV1(7)|EWSR1/FLI1(2569)|EWSR1/NR4A3(146)|EWSR1/SP3(3)|EWSR1/PATZ1(2)|EWSR1/WT1(234)|EWSR1/NFATC2(9)	breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|liver(1)|lung(6)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						CAGAACACCTATGGGCAACCG	0.463			T	"FLI1, ERG, ZNF278, NR4A3, FEV, ATF1, ETV1, ETV4, WT1, ZNF384, CREB1, POU5F1,  PBX1"	"Ewing sarcoma,  desmoplastic small round cell tumor , ALL, clear cell sarcoma, sarcoma, myoepithelioma"																																	ENST00000397938.2				Dom	yes		22	22q12	2130	T	Ewing sarcoma breakpoint region 1 (EWS)			"L, M"	"FLI1, ERG, ZNF278, NR4A3, FEV, ATF1, ETV1, ETV4, WT1, ZNF384, CREB1, POU5F1,  PBX1"		"Ewing sarcoma,  desmoplastic small round cell tumor , ALL, clear cell sarcoma, sarcoma, myoepithelioma"	EWSR1/ATF1(347)|EWSR1/POU5F1(10)|EWSR1/PBX1(3)|EWSR1/DDIT3(45)|EWSR1/FEV(11)|EWSR1/CREB1(44)|EWSR1/SMARCA5(2)|EWSR1/ETV4(6)|EWSR1/ERG(178)|EWSR1/ZNF384(4)|EWSR1/ETV1(7)|EWSR1/FLI1(2569)|EWSR1/NR4A3(146)|EWSR1/SP3(3)|EWSR1/PATZ1(2)|EWSR1/WT1(234)|EWSR1/NFATC2(9)	0				breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|liver(1)|lung(6)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						c.(640-642)tAt>tTt		EWS RNA-binding protein 1							98	93	94					22																	29682971		2203	4300	6503	SO:0001583	missense	2130				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	calmodulin binding|nucleotide binding|RNA binding|zinc ion binding	g.chr22:29682971A>T		CCDS13851.1, CCDS13852.1, CCDS13852.2, CCDS54512.1, CCDS54513.1, CCDS54514.1	22q12.2	2013-05-24	2013-05-24		ENSG00000182944	ENSG00000182944		"RNA binding motif (RRM) containing"	3508	protein-coding gene	gene with protein product		133450	"Ewing sarcoma breakpoint region 1"			1522903	Standard	NM_005243		Approved	EWS	uc003aev.3	Q01844	OTTHUMG00000151107	ENST00000397938.2:c.641A>T	22.37:g.29682971A>T	ENSP00000381031:p.Tyr214Phe					EWSR1_ENST00000406548.1_Missense_Mutation_p.Y214F|EWSR1_ENST00000331029.7_Missense_Mutation_p.Y214F|EWSR1_ENST00000332050.6_Missense_Mutation_p.Y214F|EWSR1_ENST00000414183.2_Missense_Mutation_p.Y220F|EWSR1_ENST00000333395.6_Missense_Mutation_p.Y214F|EWSR1_ENST00000332035.6_Missense_Mutation_p.Y158F	p.Y214F	NM_001163285.1|NM_001163286.1|NM_005243.3|NM_013986.3	NP_001156757.1|NP_001156758.1|NP_005234.1|NP_053733.2	Q01844	EWS_HUMAN			7	960	+			214			31 X approximate tandem repeats.|EAD (Gln/Pro/Thr-rich).		B0QYK1|Q5THL0|Q92635|Q96FE8|Q96MN4|Q96MX4|Q9BWA2	Missense_Mutation	SNP	ENST00000397938.2	37	c.641A>T	CCDS13851.1	.	.	.	.	.	.	.	.	.	.	A	20.9	4.059518	0.76074	.	.	ENSG00000182944	ENST00000332050;ENST00000397938;ENST00000406548;ENST00000437155;ENST00000415761;ENST00000331029;ENST00000414183;ENST00000333395;ENST00000455726;ENST00000332035	D;D;D;D;D;D	0.97688	-4.23;-3.74;-3.96;-4.49;-3.9;-3.76	5.7	5.7	0.88788	.	0.000000	0.64402	U	0.000002	D	0.98102	0.9374	M	0.68952	2.095	0.52099	D	0.999947	D;D;D;D;D	0.63880	0.993;0.993;0.993;0.993;0.974	D;D;D;D;D	0.67725	0.935;0.935;0.935;0.935;0.953	D	0.97994	1.0356	10	0.19147	T	0.46	.	15.9662	0.79974	1.0:0.0:0.0:0.0	.	214;158;220;214;214	Q96FE8;B0QYK1;Q96MX4;Q01844;Q9BWA2	.;.;.;EWS_HUMAN;.	F	214;214;214;215;139;214;220;214;158;158	ENSP00000330896:Y214F;ENSP00000381031:Y214F;ENSP00000385726:Y214F;ENSP00000330516:Y214F;ENSP00000400142:Y220F;ENSP00000331699:Y158F	ENSP00000330516:Y214F	Y	+	2	0	EWSR1	28012971	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.753000	0.74904	2.170000	0.68504	0.533000	0.62120	TAT		0.463	EWSR1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000321345.1	NM_005243		17	47	0	0	0	1	0	17	47					T	29682971	A	T	29682971	3	4	394	1	0	0	0	0	1	0	0	0	5296	449	16	5	689	5	EWSR1	22	29682971	Missense_Mutation	SNP	A	TCGA-V1-A9Z9-01A-21D-A41K-08		29682971	21621595	41	19314											
PCYT1B	9468	broad.mit.edu	37	chrX	24690706	24690706	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttgcgccacaattggggaGcgcgattgtcctcttccatg	6	11	11	13	3	1	0	0	0	1	0	3	2	3	1	4	2	2	0	4	2	1	4			TCGA-V1-A9Z9-01A-21D-A41K-08	TCGA-V1-A9Z9-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc8adf0-d482-4acf-bdec-3b1ec93fa84c	0f9d2e65-a5bb-406e-926b-e7e7d2507d70	g.chrX:24690706G>A	ENST00000379145.1	-	1	88	c.44C>T	c.(43-45)gCt>gTt	p.A15V		NM_001163264.1	NP_001156736.1	Q9Y5K3	PCY1B_HUMAN	phosphate cytidylyltransferase 1, choline, beta	34					CDP-choline pathway (GO:0006657)|glycerophospholipid biosynthetic process (GO:0046474)|ovarian follicle development (GO:0001541)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)	choline-phosphate cytidylyltransferase activity (GO:0004105)			breast(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)	17					Choline(DB00122)	CAATTGGGGAGCGCGATTGTC	0.418																																						ENST00000379145.1																			0				breast(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)	17						c.(43-45)gCt>gTt		phosphate cytidylyltransferase 1, choline, beta	Choline(DB00122)						182	142	154					X																	24690706		1568	3582	5150	SO:0001583	missense	9468					endoplasmic reticulum	choline-phosphate cytidylyltransferase activity	g.chrX:24690706G>A	AF052510	CCDS14213.1, CCDS55391.1, CCDS55392.1	Xp22	2008-02-05	2005-09-05		ENSG00000102230	ENSG00000102230	2.7.7.15		8755	protein-coding gene	gene with protein product		604926	"phosphate cytidylyltransferase 1, choline, beta isoform"			9593753	Standard	NM_004845		Approved	CCT-beta, CTB	uc004dbi.3	Q9Y5K3	OTTHUMG00000021270	ENST00000379145.1:c.44C>T	X.37:g.24690706G>A	ENSP00000368440:p.Ala15Val						p.A15V	NM_001163264.1	NP_001156736.1	Q9Y5K3	PCY1B_HUMAN			1	88	-			34					A8IX00|B2RCX8|B4DK10|E9PD84|O60621|Q86XC9	Missense_Mutation	SNP	ENST00000379145.1	37	c.44C>T	CCDS55392.1	.	.	.	.	.	.	.	.	.	.	G	9.930	1.214523	0.22289	.	.	ENSG00000102230	ENST00000379145	.	.	.	4.78	3.91	0.45181	.	.	.	.	.	T	0.21307	0.0513	N	0.08118	0	0.21527	N	0.99966	B	0.06786	0.001	B	0.01281	0.0	T	0.21008	-1.0258	8	0.15066	T	0.55	.	9.1834	0.37156	0.1044:0.0:0.8956:0.0	.	15	E9PD84	.	V	15	.	ENSP00000368440:A15V	A	-	2	0	PCYT1B	24600627	0.242000	0.23868	0.007000	0.13788	0.006000	0.05464	1.239000	0.32719	1.024000	0.39682	0.590000	0.80494	GCT		0.418	PCYT1B-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000056102.2	NM_004845		6	27	0	0	0	1	0	6	27					A	24690706	G	A	24690706	3	1	394	1	0	0	0	0	1	0	0	0	11611	971	34	3	1201	3	PCYT1B	23	24690706	Missense_Mutation	SNP	G	TCGA-V1-A9Z9-01A-21D-A41K-08		24690706	130579854	42	19315											
DMD	1756	broad.mit.edu	37	chrX	31838132	31838132	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccaggagctaggtcaggctgCtttgccctcagctcttgaag	7	10	12	12	0	3	1	2	1	1	0	3	2	3	2	2	3	4	4	2	3	2	3			TCGA-V1-A9Z9-01A-21D-A41K-08	TCGA-V1-A9Z9-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc8adf0-d482-4acf-bdec-3b1ec93fa84c	0f9d2e65-a5bb-406e-926b-e7e7d2507d70	g.chrX:31838132C>G	ENST00000357033.4	-	50	7475	c.7269G>C	c.(7267-7269)aaG>aaC	p.K2423N	DMD_ENST00000359836.1_5'UTR|DMD_ENST00000474231.1_5'UTR|DMD_ENST00000378707.3_5'UTR|DMD_ENST00000343523.2_5'UTR|DMD_ENST00000541735.1_5'UTR|DMD_ENST00000378677.2_Missense_Mutation_p.K2419N	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	2423					cardiac muscle cell action potential (GO:0086001)|cardiac muscle contraction (GO:0060048)|cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|extracellular matrix organization (GO:0030198)|motile cilium assembly (GO:0044458)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|peptide biosynthetic process (GO:0043043)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of heart rate (GO:0002027)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of skeletal muscle contraction (GO:0014819)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|regulation of voltage-gated calcium channel activity (GO:1901385)	cell junction (GO:0030054)|cell surface (GO:0009986)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dystrophin-associated glycoprotein complex (GO:0016010)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|syntrophin complex (GO:0016013)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|dystroglycan binding (GO:0002162)|myosin binding (GO:0017022)|nitric-oxide synthase binding (GO:0050998)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				GGTCAGGCTGCTTTGCCCTCA	0.438																																						ENST00000357033.4																			0				NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77						c.(7267-7269)aaG>aaC		dystrophin							158	124	135					X																	31838132		2202	4300	6502	SO:0001583	missense	1756				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding	g.chrX:31838132C>G	AF047505	CCDS14231.1, CCDS14232.1, CCDS14233.1, CCDS14234.1, CCDS48091.1, CCDS55394.1, CCDS55395.1, CCDS75965.1	Xp21.2	2014-09-17	2008-08-01		ENSG00000198947	ENSG00000198947			2928	protein-coding gene	gene with protein product	"muscular dystrophy, Duchenne and Becker types"	300377	"dystrophin (muscular dystrophy, Duchenne and Becker types), includes DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272", "mental retardation, X-linked 85"	MRX85		3282674, 3607877, 23900271	Standard	NM_004019		Approved	BMD, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272	uc004dda.1	P11532	OTTHUMG00000021336	ENST00000357033.4:c.7269G>C	X.37:g.31838132C>G	ENSP00000354923:p.Lys2423Asn					DMD_ENST00000378677.2_Missense_Mutation_p.K2419N|DMD_ENST00000343523.2_5'UTR|DMD_ENST00000378707.3_5'UTR|DMD_ENST00000474231.1_5'UTR|DMD_ENST00000359836.1_5'UTR|DMD_ENST00000541735.1_5'UTR	p.K2423N	NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN			50	7475	-		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)	2423					E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Missense_Mutation	SNP	ENST00000357033.4	37	c.7269G>C	CCDS14233.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.85|15.85	2.954311|2.954311	0.53293|0.53293	.|.	.|.	ENSG00000198947|ENSG00000198947	ENST00000465285|ENST00000534884;ENST00000378682;ENST00000378684;ENST00000358062;ENST00000378677;ENST00000357033;ENST00000542849;ENST00000535280	.|T;T;T	.|0.62639	.|3.97;0.01;0.01	5.84|5.84	2.17|2.17	0.27698|0.27698	.|.	.|0.000000	.|0.36409	.|U	.|0.002606	T|T	0.60741|0.60741	0.2292|0.2292	N|N	0.19112|0.19112	0.55|0.55	0.80722|0.80722	D|D	1|1	.|D;D;D;D;D	.|0.76494	.|0.999;0.998;0.998;0.998;0.998	.|D;D;D;D;D	.|0.80764	.|0.994;0.987;0.987;0.981;0.981	T|T	0.54370|0.54370	-0.8304|-0.8304	5|10	.|0.33940	.|T	.|0.23	.|.	8.4688|8.4688	0.32973|0.32973	0.0:0.6796:0.0:0.3204|0.0:0.6796:0.0:0.3204	.|.	.|2415;2423;2419;1082;1079	.|P11532-4;P11532;E9PDN5;E7EQS7;E7EQS6	.|.;DMD_HUMAN;.;.;.	P|N	152|2415;1082;1079;119;2419;2423;2423;2300	.|ENSP00000350765:K119N;ENSP00000367948:K2419N;ENSP00000354923:K2423N	.|ENSP00000354923:K2423N	A|K	-|-	1|3	0|2	DMD|DMD	31748053|31748053	0.972000|0.972000	0.33761|0.33761	0.234000|0.234000	0.24042|0.24042	0.958000|0.958000	0.62258|0.62258	0.372000|0.372000	0.20467|0.20467	0.001000|0.001000	0.14605|0.14605	0.600000|0.600000	0.82982|0.82982	GCA|AAG		0.438	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056182.2	NM_004006		27	17	0	0	0	1	0	27	17					G	31838132	C	G	31838132	3	3	394	1	0	0	0	0	1	0	0	0	4580	796	28	5	4056	5	DMD	23	31838132	Missense_Mutation	SNP	C	TCGA-V1-A9Z9-01A-21D-A41K-08	7147426	31838132	123432428	43	19316											
PRAMEF11	440560	broad.mit.edu	37	chr1	12887677	12887677	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctgtaaatccagcacttgAagtttccatctcctgtggga	9	13	8	11	0	1	1	0	1	1	0	5	2	4	2	4	1	1	3	4	1	3	3			TCGA-V1-A9ZG-01A-11D-A41K-08	TCGA-V1-A9ZG-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	463bc174-d782-4e0f-b8ab-e424b330c7f7	05454125-24ef-4c09-b1e9-71cd7a15a98e	g.chr1:12887677A>G	ENST00000535591.1	-	3	375	c.180T>C	c.(178-180)ctT>ctC	p.L60L		NM_001146344.1	NP_001139816.1	O60813	PRA11_HUMAN	PRAME family member 11	60					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)					NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1)	27						CCAGCACTTGAAGTTTCCATC	0.463																																						ENST00000535591.1																			0				NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1)	27						c.(178-180)ctT>ctC		PRAME family member 11																																				SO:0001819	synonymous_variant	440560							g.chr1:12887677A>G	AL049680	CCDS53268.1	1p36.21	2013-01-17			ENSG00000204513	ENSG00000239810		"-"	14086	protein-coding gene	gene with protein product							Standard	XM_006710645		Approved		uc001auk.2	O60813	OTTHUMG00000001929	ENST00000535591.1:c.180T>C	1.37:g.12887677A>G							p.L60L	NM_001146344.1	NP_001139816.1	O60813	PRA11_HUMAN			3	375	-			60						Silent	SNP	ENST00000535591.1	37	c.180T>C	CCDS53268.1																																																																																				0.463	PRAMEF11-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		XM_496341		4	186	0	0	0	1	0	4	186					G	12887677	A	G	12887677	2	3	395	1	0	0	0	0	0	0	0	1	12427	233	9	4		4	PRAMEF11	1	12887677	Silent	SNP	A	TCGA-V1-A9ZG-01A-11D-A41K-08		12887677	236362944	1	19317											
ATP13A2	23400	broad.mit.edu	37	chr1	17314696	17314696	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agagccatgtacttgaagacGctgaacgaagtgtcaaggga	14	7	13	7	2	1	4	1	2	0	2	1	6	1	5	1	1	3	2	1	1	5	2			TCGA-V1-A9ZG-01A-11D-A41K-08	TCGA-V1-A9ZG-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	463bc174-d782-4e0f-b8ab-e424b330c7f7	05454125-24ef-4c09-b1e9-71cd7a15a98e	g.chr1:17314696G>A	ENST00000326735.8	-	25	2829	c.2796C>T	c.(2794-2796)agC>agT	p.S932S	ATP13A2_ENST00000452699.1_Silent_p.S927S|ATP13A2_ENST00000341676.5_Silent_p.S888S|RP1-37C10.3_ENST00000446261.1_RNA			Q9NQ11	AT132_HUMAN	ATPase type 13A2	932					cell death (GO:0008219)|cellular response to manganese ion (GO:0071287)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(11)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Colorectal(325;0.000147)|Breast(348;0.00104)|Renal(390;0.00145)|Lung NSC(340;0.00566)|all_lung(284;0.00797)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|COAD - Colon adenocarcinoma(227;1.11e-05)|BRCA - Breast invasive adenocarcinoma(304;1.99e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182)		ACTTGAAGACGCTGAACGAAG	0.607																																						ENST00000452699.1																			0				central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(11)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32						c.(2779-2781)agC>agT		ATPase type 13A2							145	129	134					1																	17314696		2203	4300	6503	SO:0001819	synonymous_variant	23400				ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding	g.chr1:17314696G>A	AL354615	CCDS175.1, CCDS44072.1, CCDS44073.1	1p36	2014-09-17			ENSG00000159363	ENSG00000159363		"ATPases / P-type", "Parkinson disease"	30213	protein-coding gene	gene with protein product		610513	"Parkinson disease (autosomal recessive) 9 (Kufor-Rakeb syndrome)"	PARK9		15381061, 16964263	Standard	XM_005245809		Approved	HSA9947, CLN12	uc001baa.2	Q9NQ11	OTTHUMG00000002293	ENST00000326735.8:c.2796C>T	1.37:g.17314696G>A						RP1-37C10.3_ENST00000446261.1_RNA|ATP13A2_ENST00000341676.5_Silent_p.S888S|ATP13A2_ENST00000326735.8_Silent_p.S932S	p.S927S	NM_001141973.1|NM_022089.2	NP_001135445.1|NP_071372.1	Q9NQ11	AT132_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|COAD - Colon adenocarcinoma(227;1.11e-05)|BRCA - Breast invasive adenocarcinoma(304;1.99e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182)	25	2970	-		Colorectal(325;0.000147)|Breast(348;0.00104)|Renal(390;0.00145)|Lung NSC(340;0.00566)|all_lung(284;0.00797)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)	932					O75700|Q5JXY1|Q5JXY2|Q6S9Z9	Silent	SNP	ENST00000326735.8	37	c.2781C>T	CCDS175.1																																																																																				0.607	ATP13A2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000006617.1	NM_022089		9	30	0	0	0	1	0	9	30					A	17314696	G	A	17314696	2	1	395	1	0	0	0	0	0	0	0	1	1124	1078	38	1		1	ATP13A2	1	17314696	Silent	SNP	G	TCGA-V1-A9ZG-01A-11D-A41K-08	4427019	17314696	231935925	2	19318											
IL28RA	163702	broad.mit.edu	37	chr1	24483789	24483789	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gtgtctgaagagaaactgggGgtcccccagggaccagattc	10	7	14	10	0	1	3	0	1	1	2	3	5	2	4	3	3	1	0	3	3	2	1			TCGA-V1-A9ZG-01A-11D-A41K-08	TCGA-V1-A9ZG-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	463bc174-d782-4e0f-b8ab-e424b330c7f7	05454125-24ef-4c09-b1e9-71cd7a15a98e	g.chr1:24483789G>A	ENST00000327535.1	-	7	1406	c.1394C>T	c.(1393-1395)cCc>cTc	p.P465L	IFNLR1_ENST00000327575.2_3'UTR|IFNLR1_ENST00000374421.3_Missense_Mutation_p.P436L	NM_170743.3|NM_173064.2	NP_734464.1|NP_775087.1	Q8IU57	INLR1_HUMAN	interferon, lambda receptor 1	465					cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|mucosal immune response (GO:0002385)|negative regulation of cell proliferation (GO:0008285)|regulation of defense response to virus by host (GO:0050691)|response to type III interferon (GO:0034342)	integral component of membrane (GO:0016021)|interleukin-28 receptor complex (GO:0032002)											AGAAACTGGGGGTCCCCCAGG	0.597																																						ENST00000327535.1																			0											c.(1393-1395)cCc>cTc		interferon, lambda receptor 1							58	67	64					1																	24483789		2203	4300	6503	SO:0001583	missense	163702							g.chr1:24483789G>A	AY129153	CCDS248.1, CCDS249.1, CCDS250.1	1p36.11	2012-11-27	2012-11-26	2012-11-26	ENSG00000185436	ENSG00000185436		"Interferons"	18584	protein-coding gene	gene with protein product	"interferon lambda receptor 1"	607404	"interleukin 28 receptor, alpha", "interleukin 28 receptor, alpha (interferon, lambda receptor)"	IL28RA			Standard	NM_173064		Approved	CRF2/12, IFNLR, IL-28R1	uc001bis.3	Q8IU57	OTTHUMG00000003036	ENST00000327535.1:c.1394C>T	1.37:g.24483789G>A	ENSP00000327824:p.Pro465Leu					IFNLR1_ENST00000327575.2_3'UTR|IFNLR1_ENST00000374421.3_Missense_Mutation_p.P436L	p.P465L	NM_170743.3|NM_173064.2	NP_734464.1|NP_775087.1					7	1406	-								Q5VTX5|Q5VTX7|Q5VTX8|Q6ZML8|Q8IV66|Q8IZI7|Q8IZI8	Missense_Mutation	SNP	ENST00000327535.1	37	c.1394C>T	CCDS248.1	.	.	.	.	.	.	.	.	.	.	G	6.425	0.446623	0.12223	.	.	ENSG00000185436	ENST00000327535;ENST00000374421	.	.	.	5.59	3.73	0.42828	.	0.560616	0.17739	N	0.163622	T	0.45657	0.1353	L	0.31926	0.97	0.45747	D	0.998642	B;B	0.20550	0.027;0.046	B;B	0.22601	0.018;0.04	T	0.37776	-0.9691	9	0.56958	D	0.05	-6.3435	9.3044	0.37865	0.1676:0.0:0.8324:0.0	.	465;436	Q8IU57;Q8IU57-2	I28RA_HUMAN;.	L	465;436	.	ENSP00000327824:P465L	P	-	2	0	IL28RA	24356376	0.990000	0.36364	0.514000	0.27761	0.071000	0.16799	1.504000	0.35726	0.841000	0.35020	-0.254000	0.11334	CCC		0.597	IFNLR1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000008402.1	NM_170743		12	67	0	0	0	1	0	12	67					A	24483789	G	A	24483789	3	1	395	1	0	0	0	0	1	0	0	0	7684	1232	43	3	172	3	IL28RA	1	24483789	Missense_Mutation	SNP	G	TCGA-V1-A9ZG-01A-11D-A41K-08	7169093	24483789	224766832	3	19319											
RSPO1	284654	broad.mit.edu	37	chr1	38079477	38079477	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	catgtagcaccctgcgtgtcCgctcctcggagcccctccgg	4	8	11	18	4	0	0	0	0	0	0	4	1	3	1	6	2	3	3	6	2	1	1	rs143117795		TCGA-V1-A9ZG-01A-11D-A41K-08	TCGA-V1-A9ZG-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	463bc174-d782-4e0f-b8ab-e424b330c7f7	05454125-24ef-4c09-b1e9-71cd7a15a98e	g.chr1:38079477C>T	ENST00000401069.1	-	6	1236	c.524G>A	c.(523-525)cGg>cAg	p.R175Q	RSPO1_ENST00000356545.2_Missense_Mutation_p.R175Q|RSPO1_ENST00000401071.2_Intron|RSPO1_ENST00000401070.1_Intron|RSPO1_ENST00000373059.1_Missense_Mutation_p.R148Q|RSPO1_ENST00000401068.1_Missense_Mutation_p.R175Q	NM_001242908.1	NP_001229837.1	Q2MKA7	RSPO1_HUMAN	R-spondin 1	175	TSP type-1. {ECO:0000255|PROSITE- ProRule:PRU00210}.				canonical Wnt signaling pathway (GO:0060070)|male meiosis (GO:0007140)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of non-canonical Wnt signaling pathway (GO:2000052)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of gene expression (GO:0010468)|regulation of male germ cell proliferation (GO:2000254)|regulation of receptor internalization (GO:0002090)	extracellular space (GO:0005615)|nucleus (GO:0005634)	G-protein coupled receptor binding (GO:0001664)|heparin binding (GO:0008201)|receptor binding (GO:0005102)			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)	12		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				CCTGCGTGTCCGCTCCTCGGA	0.637													C|||	1	0.000199681	0	0	5008	,	,		18533	0		0.001	False		,,,				2504	0				GBM(122;680 2230 27822 42821)	ENST00000356545.2																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)	12						c.(523-525)cGg>cAg		R-spondin 1							47	52	50					1																	38079477		2009	4177	6186	SO:0001583	missense	284654				positive regulation of canonical Wnt receptor signaling pathway|regulation of receptor internalization		heparin binding	g.chr1:38079477C>T	AK098225	CCDS41304.1, CCDS55590.1, CCDS55591.1	1p34.2	2014-01-30	2011-06-29		ENSG00000169218	ENSG00000169218		"Endogenous ligands"	21679	protein-coding gene	gene with protein product		609595	"R-spondin homolog (Xenopus laevis)"				Standard	NM_001038633		Approved	FLJ40906, RSPONDIN	uc001cbm.2	Q2MKA7	OTTHUMG00000004321	ENST00000401069.1:c.524G>A	1.37:g.38079477C>T	ENSP00000383847:p.Arg175Gln					RSPO1_ENST00000401071.2_Intron|RSPO1_ENST00000373059.1_Missense_Mutation_p.R148Q|RSPO1_ENST00000401070.1_Intron|RSPO1_ENST00000401068.1_Missense_Mutation_p.R175Q|RSPO1_ENST00000401069.1_Missense_Mutation_p.R175Q	p.R175Q	NM_001038633.3	NP_001033722.1	Q2MKA7	RSPO1_HUMAN			7	1311	-		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)	175			TSP type-1.		A2A420|Q0H8S6|Q14C72|Q5T0F2|Q8N7L5	Missense_Mutation	SNP	ENST00000401069.1	37	c.524G>A	CCDS41304.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	37	5.978209	0.97168	.	.	ENSG00000169218	ENST00000373059;ENST00000356545;ENST00000401069;ENST00000401068	T;T;T;T	0.80738	-1.41;-1.41;-1.41;-1.41	5.42	5.42	0.78866	.	0.129106	0.53938	D	0.000048	D	0.92515	0.7623	M	0.92412	3.305	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.997;0.998	D	0.93768	0.7072	10	0.87932	D	0	.	19.6053	0.95577	0.0:1.0:0.0:0.0	.	148;175	Q2MKA7-2;Q2MKA7	.;RSPO1_HUMAN	Q	148;175;175;175	ENSP00000362150:R148Q;ENSP00000348944:R175Q;ENSP00000383847:R175Q;ENSP00000383846:R175Q	ENSP00000348944:R175Q	R	-	2	0	RSPO1	37852064	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.063000	0.76714	2.711000	0.92665	0.655000	0.94253	CGG		0.637	RSPO1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012477.2	NM_173640		8	49	0	0	0	1	0	8	49					T	38079477	C	T	38079477	3	4	395	1	0	0	0	0	1	0	0	0	13709	652	23	2	275	2	RSPO1	1	38079477	Missense_Mutation	SNP	C	TCGA-V1-A9ZG-01A-11D-A41K-08	13595688	38079477	211171144	4	19320											
CACNA1E	777	broad.mit.edu	37	chr1	181721292	181721292	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgcagaaccaacaaaggaCgggacatcaagaccatcaag	17	3	9	12	1	2	2	2	0	0	2	2	4	2	4	3	2	3	1	3	2	5	0			TCGA-V1-A9ZG-01A-11D-A41K-08	TCGA-V1-A9ZG-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	463bc174-d782-4e0f-b8ab-e424b330c7f7	05454125-24ef-4c09-b1e9-71cd7a15a98e	g.chr1:181721292C>T	ENST00000367573.2	+	27	3745	c.3745C>T	c.(3745-3747)Cgg>Tgg	p.R1249W	CACNA1E_ENST00000367567.4_Missense_Mutation_p.R856W|CACNA1E_ENST00000358338.5_Missense_Mutation_p.R1181W|CACNA1E_ENST00000357570.5_Missense_Mutation_p.R1200W|CACNA1E_ENST00000360108.3_Missense_Mutation_p.R1230W|CACNA1E_ENST00000526775.1_Missense_Mutation_p.R1230W|CACNA1E_ENST00000367570.1_Missense_Mutation_p.R1249W	NM_001205293.1	NP_001192222.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	1249					calcium ion import (GO:0070509)|energy reserve metabolic process (GO:0006112)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|voltage-gated calcium channel activity (GO:0005245)			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						CAACAAAGGACGGGACATCAA	0.483																																						ENST00000526775.1																			0				NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						c.(3688-3690)Cgg>Tgg		calcium channel, voltage-dependent, R type, alpha 1E subunit							108	105	106					1																	181721292		1898	4122	6020	SO:0001583	missense	777				energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr1:181721292C>T	AK096563	CCDS53443.1, CCDS55664.1, CCDS55665.1	1q25.3	2013-01-10	2007-02-16		ENSG00000198216	ENSG00000198216		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels", "EF-hand domain containing"	1392	protein-coding gene	gene with protein product		601013		CACNL1A6		8388125, 16382099	Standard	NM_001205293		Approved	Cav2.3, BII, CACH6	uc009wxt.3	Q15878	OTTHUMG00000037301	ENST00000367573.2:c.3745C>T	1.37:g.181721292C>T	ENSP00000356545:p.Arg1249Trp					CACNA1E_ENST00000358338.5_Missense_Mutation_p.R1181W|CACNA1E_ENST00000367570.1_Missense_Mutation_p.R1249W|CACNA1E_ENST00000367567.4_Missense_Mutation_p.R856W|CACNA1E_ENST00000360108.3_Missense_Mutation_p.R1230W|CACNA1E_ENST00000357570.5_Missense_Mutation_p.R1200W|CACNA1E_ENST00000367573.2_Missense_Mutation_p.R1249W	p.R1230W	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN			26	3853	+			1249			Poly-Val.		B1AM12|B1AM13|B1AM14|Q14580|Q14581	Missense_Mutation	SNP	ENST00000367573.2	37	c.3688C>T	CCDS55664.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.211391	0.79240	.	.	ENSG00000198216	ENST00000367570;ENST00000526775;ENST00000357570;ENST00000358338;ENST00000367567;ENST00000360108;ENST00000367573	D;D;D;D;D;D;D	0.97553	-4.01;-4.01;-4.0;-4.01;-4.43;-4.0;-3.99	5.72	4.8	0.61643	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.97570	0.9204	L	0.46157	1.445	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.74674	0.972;0.983;0.984	D	0.98645	1.0677	10	0.87932	D	0	.	16.3053	0.82846	0.1331:0.8669:0.0:0.0	.	1230;1249;1249	Q15878-2;Q15878;Q15878-3	.;CAC1E_HUMAN;.	W	1249;1230;1200;1181;856;1230;1249	ENSP00000356542:R1249W;ENSP00000434814:R1230W;ENSP00000350183:R1200W;ENSP00000351101:R1181W;ENSP00000356539:R856W;ENSP00000353222:R1230W;ENSP00000356545:R1249W	ENSP00000350183:R1200W	R	+	1	2	CACNA1E	179987915	0.625000	0.27111	0.797000	0.32132	0.992000	0.81027	1.228000	0.32588	1.535000	0.49220	0.655000	0.94253	CGG		0.483	CACNA1E-003	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090793.2	NM_000721		8	53	0	0	0	1	0	8	53					T	181721292	C	T	181721292	3	4	395	1	0	0	0	0	1	0	0	0	2542	527	19	1	3851	1	CACNA1E	1	181721292	Missense_Mutation	SNP	C	TCGA-V1-A9ZG-01A-11D-A41K-08	143641815	181721292	67529329	5	19321											
LYST	1130	broad.mit.edu	37	chr1	235887435	235887435	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtgaacttctttaatttcttCatatgtccaggaaaatgatg	12	16	7	6	0	3	2	1	2	2	0	4	3	4	3	1	1	1	0	1	1	5	6			TCGA-V1-A9ZG-01A-11D-A41K-08	TCGA-V1-A9ZG-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	463bc174-d782-4e0f-b8ab-e424b330c7f7	05454125-24ef-4c09-b1e9-71cd7a15a98e	g.chr1:235887435C>T	ENST00000389794.3	-	39	9382	c.9208G>A	c.(9208-9210)Gaa>Aaa	p.E3070K	LYST_ENST00000473037.1_5'UTR|LYST_ENST00000389793.2_Missense_Mutation_p.E3070K			Q99698	LYST_HUMAN	lysosomal trafficking regulator	3070					blood coagulation (GO:0007596)|defense response to bacterium (GO:0042742)|defense response to protozoan (GO:0042832)|defense response to virus (GO:0051607)|endosome to lysosome transport via multivesicular body sorting pathway (GO:0032510)|leukocyte chemotaxis (GO:0030595)|lysosome organization (GO:0007040)|mast cell secretory granule organization (GO:0033364)|melanosome organization (GO:0032438)|microtubule-based process (GO:0007017)|natural killer cell mediated cytotoxicity (GO:0042267)|neutrophil mediated immunity (GO:0002446)|phospholipid homeostasis (GO:0055091)|phospholipid metabolic process (GO:0006644)|pigmentation (GO:0043473)|positive regulation of natural killer cell activation (GO:0032816)|response to drug (GO:0042493)|secretion of lysosomal enzymes (GO:0033299)|T cell mediated immunity (GO:0002456)	cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)				NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			TTAATTTCTTCATATGTCCAG	0.353																																						ENST00000389794.3																			0				NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162						c.(9208-9210)Gaa>Aaa		lysosomal trafficking regulator							94	93	93					1																	235887435		2203	4300	6503	SO:0001583	missense	1130				defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding	g.chr1:235887435C>T	U70064	CCDS31062.1	1q42.1-q42.2	2014-09-17	2004-12-09	2004-12-10	ENSG00000143669	ENSG00000143669		"WD repeat domain containing"	1968	protein-coding gene	gene with protein product		606897	"Chediak-Higashi syndrome 1"	CHS1		8717042, 8896560	Standard	NM_000081		Approved	CHS	uc001hxj.3	Q99698	OTTHUMG00000040527	ENST00000389794.3:c.9208G>A	1.37:g.235887435C>T	ENSP00000374444:p.Glu3070Lys					LYST_ENST00000389793.2_Missense_Mutation_p.E3070K|LYST_ENST00000473037.1_5'UTR	p.E3070K			Q99698	LYST_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.000674)		39	9382	-	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	3070					O43274|Q5T2U9|Q96TD7|Q96TD8|Q99709|Q9H133	Missense_Mutation	SNP	ENST00000389794.3	37	c.9208G>A	CCDS31062.1	.	.	.	.	.	.	.	.	.	.	C	35	5.571491	0.96553	.	.	ENSG00000143669	ENST00000389794;ENST00000389793	T;T	0.63255	-0.03;-0.03	5.53	5.53	0.82687	PH-BEACH domain (1);	0.000000	0.85682	D	0.000000	T	0.79953	0.4535	M	0.73430	2.235	0.80722	D	1	D	0.76494	0.999	D	0.73380	0.98	T	0.81079	-0.1095	10	0.62326	D	0.03	.	19.4728	0.94969	0.0:1.0:0.0:0.0	.	3070	Q99698	LYST_HUMAN	K	3070	ENSP00000374444:E3070K;ENSP00000374443:E3070K	ENSP00000374443:E3070K	E	-	1	0	LYST	233954058	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.818000	0.86416	2.602000	0.87976	0.467000	0.42956	GAA		0.353	LYST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097533.5			10	46	0	0	0	1	0	10	46					T	235887435	C	T	235887435	3	4	395	1	0	0	0	0	1	0	0	0	9128	835	29	3	2257	3	LYST	1	235887435	Missense_Mutation	SNP	C	TCGA-V1-A9ZG-01A-11D-A41K-08	54166143	235887435	13363186	6	19322											
SMARCAL1	50485	broad.mit.edu	37	chr2	217347605	217347605	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtagttcccagaacatgggaGacaccctggatgaaagctca	13	7	11	10	0	1	3	1	1	0	2	2	5	2	4	2	2	2	3	2	2	3	2			TCGA-V1-A9ZG-01A-11D-A41K-08	TCGA-V1-A9ZG-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	463bc174-d782-4e0f-b8ab-e424b330c7f7	05454125-24ef-4c09-b1e9-71cd7a15a98e	g.chr2:217347605G>A	ENST00000357276.4	+	18	3100	c.2770G>A	c.(2770-2772)Gac>Aac	p.D924N	SMARCAL1_ENST00000358207.5_Missense_Mutation_p.D924N|AC098820.4_ENST00000414135.1_RNA|AC098820.3_ENST00000453157.1_RNA	NM_014140.3	NP_054859.2	Q9NZC9	SMAL1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1	924					cellular response to DNA damage stimulus (GO:0006974)|chromatin modification (GO:0016568)|DNA metabolic process (GO:0006259)|DNA strand renaturation (GO:0000733)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|replication fork processing (GO:0031297)	nucleus (GO:0005634)|site of double-strand break (GO:0035861)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(10)|liver(1)|lung(15)|ovary(3)|prostate(1)|skin(1)	42		Renal(323;0.0458)		Epithelial(149;9.48e-06)|all cancers(144;0.000621)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0111)		GAACATGGGAGACACCCTGGA	0.468									Schimke Immuno-Osseous Dysplasia																													ENST00000357276.4																			0				NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(10)|liver(1)|lung(15)|ovary(3)|prostate(1)|skin(1)	42						c.(2770-2772)Gac>Aac		SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1							109	116	114					2																	217347605		2203	4300	6503	SO:0001583	missense	50485	Schimke Immuno-Osseous Dysplasia	Familial Cancer Database	SIOD	chromatin modification|DNA metabolic process|regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity	g.chr2:217347605G>A	AF210833	CCDS2403.1	2q35	2014-09-17			ENSG00000138375	ENSG00000138375			11102	protein-coding gene	gene with protein product	"HepA-related protein", "ATP-driven annealing helicase"	606622				10713074, 10857751, 18974355	Standard	NM_014140		Approved	HHARP, HARP	uc002vgd.4	Q9NZC9	OTTHUMG00000133055	ENST00000357276.4:c.2770G>A	2.37:g.217347605G>A	ENSP00000349823:p.Asp924Asn					AC098820.3_ENST00000453157.1_RNA|SMARCAL1_ENST00000358207.5_Missense_Mutation_p.D924N	p.D924N	NM_014140.3	NP_054859.2	Q9NZC9	SMAL1_HUMAN		Epithelial(149;9.48e-06)|all cancers(144;0.000621)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0111)	18	3100	+		Renal(323;0.0458)	924					A6NEH0|Q53R00|Q96AY1|Q9NXQ5|Q9UFH3|Q9UI93	Missense_Mutation	SNP	ENST00000357276.4	37	c.2770G>A	CCDS2403.1	.	.	.	.	.	.	.	.	.	.	G	15.89	2.965988	0.53507	.	.	ENSG00000138375	ENST00000357276;ENST00000358207;ENST00000392128	D;D;D	0.85955	-2.05;-2.05;-2.05	4.24	3.34	0.38264	.	0.681387	0.13793	N	0.362400	D	0.88883	0.6558	M	0.68317	2.08	0.09310	N	1	D	0.71674	0.998	P	0.59115	0.852	T	0.79371	-0.1831	10	0.51188	T	0.08	-3.8877	10.6635	0.45717	0.0:0.0:0.8078:0.1922	.	924	Q9NZC9	SMAL1_HUMAN	N	924;924;766	ENSP00000349823:D924N;ENSP00000350940:D924N;ENSP00000375974:D766N	ENSP00000349823:D924N	D	+	1	0	SMARCAL1	217055850	0.002000	0.14202	0.007000	0.13788	0.459000	0.32528	0.931000	0.28871	1.090000	0.41315	0.563000	0.77884	GAC		0.468	SMARCAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256671.2			27	97	0	0	0	1	0	27	97					A	217347605	G	A	217347605	3	1	395	1	0	0	0	0	1	0	0	0	14773	942	33	3	2832	3	SMARCAL1	2	217347605	Missense_Mutation	SNP	G	TCGA-V1-A9ZG-01A-11D-A41K-08		217347605	25851768	7	19323											
COL4A3	1285	broad.mit.edu	37	chr2	228172604	228172604	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttttcttttctttttgtacaAggaaatcaacgagcccacgg	10	15	7	9	2	3	0	1	0	2	0	3	2	3	1	1	2	3	1	1	2	4	7			TCGA-V1-A9ZG-01A-11D-A41K-08	TCGA-V1-A9ZG-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	463bc174-d782-4e0f-b8ab-e424b330c7f7	05454125-24ef-4c09-b1e9-71cd7a15a98e	g.chr2:228172604A>G	ENST00000396578.3	+	48	4593	c.4431A>G	c.(4429-4431)caA>caG	p.Q1477Q	AC097662.2_ENST00000396588.2_RNA|AC097662.2_ENST00000439598.2_RNA|AC097662.2_ENST00000433324.1_RNA	NM_000091.4	NP_000082.2	Q01955	CO4A3_HUMAN	collagen, type IV, alpha 3 (Goodpasture antigen)	1477	Collagen IV NC1. {ECO:0000255|PROSITE- ProRule:PRU00736}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|axon guidance (GO:0007411)|blood circulation (GO:0008015)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|collagen catabolic process (GO:0030574)|endothelial cell apoptotic process (GO:0072577)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glomerular basement membrane development (GO:0032836)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell proliferation (GO:0008285)|negative regulation of endopeptidase activity (GO:0010951)|sensory perception of sound (GO:0007605)	basement membrane (GO:0005604)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)|integrin binding (GO:0005178)|metalloendopeptidase inhibitor activity (GO:0008191)|structural molecule activity (GO:0005198)			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247)		Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187)		TTTTTGTACAAGGAAATCAAC	0.473																																						ENST00000396578.3																			0				NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	55						c.(4429-4431)caA>caG		collagen, type IV, alpha 3 (Goodpasture antigen)							76	72	73					2																	228172604		1893	4111	6004	SO:0001819	synonymous_variant	1285				activation of caspase activity|axon guidance|blood circulation|cell adhesion|cell proliferation|cell surface receptor linked signaling pathway|glomerular basement membrane development|induction of apoptosis|negative regulation of angiogenesis|negative regulation of cell proliferation|sensory perception of sound	collagen type IV	extracellular matrix structural constituent|integrin binding|metalloendopeptidase inhibitor activity	g.chr2:228172604A>G		CCDS42829.1	2q36-q37	2014-09-17			ENSG00000169031	ENSG00000169031		"Collagens"	2204	protein-coding gene	gene with protein product	"tumstatin"	120070				1737849	Standard	NM_000091		Approved		uc002vom.2	Q01955	OTTHUMG00000149891	ENST00000396578.3:c.4431A>G	2.37:g.228172604A>G						AC097662.2_ENST00000396588.2_RNA|AC097662.2_ENST00000433324.1_RNA|AC097662.2_ENST00000439598.2_RNA	p.Q1477Q	NM_000091.4	NP_000082.2	Q01955	CO4A3_HUMAN		Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187)	48	4593	+		all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247)	1477			Collagen IV NC1.		Q53QQ1|Q53R14|Q53RW8|Q9BQT2|Q9NYC4|Q9UDJ9|Q9UDK9|Q9UDL0|Q9UDL1	Silent	SNP	ENST00000396578.3	37	c.4431A>G	CCDS42829.1																																																																																				0.473	COL4A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331409.2	NM_000091		10	34	0	0	0	1	0	10	34					G	228172604	A	G	228172604	2	3	395	1	0	0	0	0	0	0	0	1	3691	69	3	4		4	COL4A3	2	228172604	Silent	SNP	A	TCGA-V1-A9ZG-01A-11D-A41K-08	10824999	228172604	15026769	8	19324											
VEPH1	79674	broad.mit.edu	37	chr3	157081476	157081476	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	agatgctggctggtatgtctCccctgttttcatcttcgccg	4	15	10	12	2	3	1	1	0	2	1	5	1	3	1	3	2	1	4	3	2	1	4			TCGA-V1-A9ZG-01A-11D-A41K-08	TCGA-V1-A9ZG-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	463bc174-d782-4e0f-b8ab-e424b330c7f7	05454125-24ef-4c09-b1e9-71cd7a15a98e	g.chr3:157081476C>T	ENST00000362010.2	-	9	1719	c.1412G>A	c.(1411-1413)gGa>gAa	p.G471E	VEPH1_ENST00000543418.1_Missense_Mutation_p.G471E|VEPH1_ENST00000392832.2_Missense_Mutation_p.G471E|RP11-550I24.2_ENST00000487238.1_RNA|VEPH1_ENST00000392833.2_Missense_Mutation_p.G471E	NM_001167912.1	NP_001161384.1	Q14D04	MELT_HUMAN	ventricular zone expressed PH domain-containing 1	471						plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(5)|cervix(1)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|pancreas(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48			Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461)			TGGTATGTCTCCCCTGTTTTC	0.468																																						ENST00000362010.2																			0				autonomic_ganglia(1)|breast(5)|cervix(1)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|pancreas(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						c.(1411-1413)gGa>gAa		ventricular zone expressed PH domain-containing 1							85	87	86					3																	157081476		2203	4300	6503	SO:0001583	missense	79674					plasma membrane		g.chr3:157081476C>T	AL713656	CCDS3179.1, CCDS54661.1, CCDS54662.1, CCDS54663.1	3q24-q25	2013-01-10	2012-12-10		ENSG00000197415	ENSG00000197415		"Pleckstrin homology (PH) domain containing"	25735	protein-coding gene	gene with protein product		609594	"ventricular zone expressed PH domain homolog 1 (zebrafish)"			11214970, 15388229	Standard	NM_024621		Approved	FLJ12604, KIAA1692	uc003fbk.2	Q14D04	OTTHUMG00000158711	ENST00000362010.2:c.1412G>A	3.37:g.157081476C>T	ENSP00000354919:p.Gly471Glu					VEPH1_ENST00000392832.2_Missense_Mutation_p.G471E|VEPH1_ENST00000392833.2_Missense_Mutation_p.G471E|VEPH1_ENST00000543418.1_Missense_Mutation_p.G471E|RP11-550I24.2_ENST00000487238.1_RNA	p.G471E	NM_001167912.1	NP_001161384.1	Q14D04	MELT_HUMAN	Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461)		9	1719	-			471					D3DNL0|F5GZ91|Q2TAA9|Q3MIX2|Q6PEL3|Q86TL5|Q8TCR3|Q96SP7|Q9C0H1|Q9H9Q7	Missense_Mutation	SNP	ENST00000362010.2	37	c.1412G>A	CCDS3179.1	.	.	.	.	.	.	.	.	.	.	C	9.968	1.224584	0.22457	.	.	ENSG00000197415	ENST00000392833;ENST00000362010;ENST00000543418;ENST00000392832	T;T;T;T	0.08008	3.14;3.15;3.14;3.15	5.37	0.45	0.16624	.	1.248110	0.05256	N	0.514965	T	0.04679	0.0127	N	0.11560	0.145	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.08055	0.003;0.001	T	0.43475	-0.9389	10	0.20519	T	0.43	-37.2348	6.159	0.20354	0.0:0.4499:0.2703:0.2798	.	471;471	Q14D04-2;Q14D04	.;MELT_HUMAN	E	471	ENSP00000376578:G471E;ENSP00000354919:G471E;ENSP00000446258:G471E;ENSP00000376577:G471E	ENSP00000354919:G471E	G	-	2	0	VEPH1	158564170	0.031000	0.19500	0.000000	0.03702	0.015000	0.08874	0.325000	0.19628	0.253000	0.21552	0.650000	0.86243	GGA		0.468	VEPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351845.3	NM_024621		12	64	0	0	0	1	0	12	64					T	157081476	C	T	157081476	3	4	395	1	0	0	0	0	1	0	0	0	17151	855	30	3	1113	3	VEPH1	3	157081476	Missense_Mutation	SNP	C	TCGA-V1-A9ZG-01A-11D-A41K-08		157081476	40940954	9	19325											
ZFYVE28	57732	broad.mit.edu	37	chr4	2306299	2306299	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcgtacgaggcaccaatgaCgcctcccgggctgcacttct	8	7	11	15	4	1	1	0	1	1	0	2	2	2	1	3	2	3	4	3	2	2	2	rs201300192	byFrequency	TCGA-V1-A9ZG-01A-11D-A41K-08	TCGA-V1-A9ZG-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	463bc174-d782-4e0f-b8ab-e424b330c7f7	05454125-24ef-4c09-b1e9-71cd7a15a98e	g.chr4:2306299C>T	ENST00000290974.2	-	8	2107	c.1768G>A	c.(1768-1770)Gtc>Atc	p.V590I	RP11-478C1.7_ENST00000510632.1_RNA|ZFYVE28_ENST00000511071.1_Missense_Mutation_p.V560I|ZFYVE28_ENST00000515312.1_Missense_Mutation_p.V520I	NM_020972.2	NP_066023.2	Q9HCC9	LST2_HUMAN	zinc finger, FYVE domain containing 28	590					negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of epidermal growth factor-activated receptor activity (GO:0007175)	cytosol (GO:0005829)|early endosome membrane (GO:0031901)	metal ion binding (GO:0046872)|phosphatidylinositol-3-phosphate binding (GO:0032266)			NS(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(4)	31						GCACCAATGACGCCTCCCGGG	0.667													C|||	5	0.000998403	0	0	5008	,	,		16836	0.005		0	False		,,,				2504	0					ENST00000290974.2																			0				NS(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(4)	31						c.(1768-1770)Gtc>Atc		zinc finger, FYVE domain containing 28							27	26	26					4																	2306299		2203	4298	6501	SO:0001583	missense	57732				negative regulation of epidermal growth factor receptor activity	cytosol|early endosome membrane	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding	g.chr4:2306299C>T	AK126692	CCDS33942.1, CCDS54708.1, CCDS54709.1, CCDS54710.1, CCDS54711.1, CCDS54712.1	4p16.3	2008-05-02			ENSG00000159733	ENSG00000159733		"Zinc fingers, FYVE domain containing"	29334	protein-coding gene	gene with protein product		614176				10997877	Standard	NM_020972		Approved	KIAA1643	uc003gex.2	Q9HCC9	OTTHUMG00000160292	ENST00000290974.2:c.1768G>A	4.37:g.2306299C>T	ENSP00000290974:p.Val590Ile					RP11-478C1.7_ENST00000510632.1_RNA|ZFYVE28_ENST00000515312.1_Missense_Mutation_p.V520I|ZFYVE28_ENST00000511071.1_Missense_Mutation_p.V560I	p.V590I	NM_020972.2	NP_066023.2	Q9HCC9	LST2_HUMAN			8	2107	-			590					B2RP83|B3KX50|B7Z1Q7|B7Z2G9|B7Z2M2|B7ZB19|E9PB54|E9PB64|E9PG77|Q7Z6J3	Missense_Mutation	SNP	ENST00000290974.2	37	c.1768G>A	CCDS33942.1	2	9.157509157509158E-4	0	0.0	0	0.0	2	0.0034965034965034965	0	0.0	C	15.20	2.764241	0.49574	.	.	ENSG00000159733	ENST00000290974;ENST00000511071;ENST00000515312	T;T;T	0.61510	0.15;0.1;0.15	4.44	-3.19	0.05171	.	0.466058	0.22197	N	0.063297	T	0.36138	0.0956	L	0.41236	1.265	0.09310	N	1	B;B	0.17465	0.022;0.017	B;B	0.09377	0.004;0.003	T	0.11743	-1.0575	10	0.49607	T	0.09	.	1.0861	0.01653	0.2314:0.3964:0.1131:0.2591	.	560;590	Q9HCC9-2;Q9HCC9	.;LST2_HUMAN	I	590;560;520	ENSP00000290974:V590I;ENSP00000425706:V560I;ENSP00000426299:V520I	ENSP00000290974:V590I	V	-	1	0	ZFYVE28	2276097	0.002000	0.14202	0.000000	0.03702	0.122000	0.20287	-0.275000	0.08525	-1.143000	0.02866	-1.430000	0.01095	GTC		0.667	ZFYVE28-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000360078.1	XM_035371		4	19	0	0	0	1	0	4	19					T	2306299	C	T	2306299	3	4	395	1	0	0	0	0	1	0	0	0	17667	536	19	1	919	1	ZFYVE28	4	2306299	Missense_Mutation	SNP	C	TCGA-V1-A9ZG-01A-11D-A41K-08		2306299	188847977	10	19326											
PALLD	23022	broad.mit.edu	37	chr4	169837159	169837159	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gactgttcaagaaggaaaacTctgcagaatggactgcaaag	16	7	11	7	0	2	2	1	0	1	2	2	5	2	4	0	2	3	3	0	2	6	1			TCGA-V1-A9ZG-01A-11D-A41K-08	TCGA-V1-A9ZG-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	463bc174-d782-4e0f-b8ab-e424b330c7f7	05454125-24ef-4c09-b1e9-71cd7a15a98e	g.chr4:169837159T>G	ENST00000505667.1	+	17	3004	c.2831T>G	c.(2830-2832)cTc>cGc	p.L944R	PALLD_ENST00000507735.1_Missense_Mutation_p.L440R|CBR4_ENST00000509108.1_Intron|PALLD_ENST00000335742.7_Missense_Mutation_p.L769R|PALLD_ENST00000512127.1_Missense_Mutation_p.L545R|PALLD_ENST00000261509.6_Missense_Mutation_p.L927R			Q8WX93	PALLD_HUMAN	palladin, cytoskeletal associated protein	1151					cytoskeleton organization (GO:0007010)	actin filament (GO:0005884)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	muscle alpha-actinin binding (GO:0051371)			breast(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(18)|ovary(3)|prostate(3)|skin(4)	48		Prostate(90;0.00996)|Renal(120;0.0203)|Melanoma(52;0.144)		GBM - Glioblastoma multiforme(119;0.204)		GAAGGAAAACTCTGCAGAATG	0.443									Pancreatic Cancer, Familial Clustering of																												Esophageal Squamous(109;1482 1532 18347 40239 51172)	ENST00000335742.7																			0				breast(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(18)|ovary(3)|prostate(3)|skin(4)	48						c.(2305-2307)cTc>cGc		palladin, cytoskeletal associated protein							96	101	99					4																	169837159		2203	4300	6503	SO:0001583	missense	23022	Pancreatic Cancer, Familial Clustering of	Familial Cancer Database	incl.: Hereditary Pancreatic Adenocarcinoma, Insulin-Dependent Diabetes Mellitus - Exocrine Insufficiency - Familial Pancreatic Cancer, PNCA1	cytoskeleton organization	actin filament|focal adhesion|lamellipodium|nucleus|ruffle|sarcomere	actin binding|muscle alpha-actinin binding	g.chr4:169837159T>G	AB023209	CCDS34098.1, CCDS54818.1, CCDS54819.1, CCDS54820.1	4q32.3	2013-01-11			ENSG00000129116	ENSG00000129116		"Immunoglobulin superfamily / I-set domain containing"	17068	protein-coding gene	gene with protein product		608092				10231032, 10931874	Standard	NM_001166108		Approved	KIAA0992, SIH002, CGI-151	uc011cjx.2	Q8WX93	OTTHUMG00000161097	ENST00000505667.1:c.2831T>G	4.37:g.169837159T>G	ENSP00000425556:p.Leu944Arg					CBR4_ENST00000509108.1_Intron|PALLD_ENST00000507735.1_Missense_Mutation_p.L440R|PALLD_ENST00000505667.1_Missense_Mutation_p.L944R|PALLD_ENST00000261509.6_Missense_Mutation_p.L927R|PALLD_ENST00000512127.1_Missense_Mutation_p.L545R	p.L769R			Q8WX93	PALLD_HUMAN		GBM - Glioblastoma multiforme(119;0.204)	17	3663	+		Prostate(90;0.00996)|Renal(120;0.0203)|Melanoma(52;0.144)	1151			Interaction with EPS8 (By similarity).|Pro-rich.		B3KTG2|B5MD56|B7ZMM5|Q7L3E0|Q7Z3W0|Q86WE8|Q8N1M2|Q9UGA0|Q9UQF5|Q9Y2J6|Q9Y3E9	Missense_Mutation	SNP	ENST00000505667.1	37	c.2306T>G	CCDS54818.1	.	.	.	.	.	.	.	.	.	.	T	21.0	4.083535	0.76642	.	.	ENSG00000129116	ENST00000261509;ENST00000335742;ENST00000505667;ENST00000512127;ENST00000507735	T;T;T;T;T	0.65916	-0.18;-0.18;-0.18;-0.18;-0.18	5.43	5.43	0.79202	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.29009	U	0.013422	T	0.51432	0.1674	N	0.01096	-1.015	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	T	0.61992	-0.6948	10	0.16420	T	0.52	.	15.4601	0.75349	0.0:0.0:0.0:1.0	.	944;1151;545;927	B7ZMM5;Q8WX93;B3KTG2;B2RTX2	.;PALLD_HUMAN;.;.	R	927;769;944;545;440	ENSP00000261509:L927R;ENSP00000336735:L769R;ENSP00000425556:L944R;ENSP00000426947:L545R;ENSP00000424016:L440R	ENSP00000261509:L927R	L	+	2	0	PALLD	170073734	1.000000	0.71417	1.000000	0.80357	0.847000	0.48162	8.040000	0.89188	2.061000	0.61500	0.260000	0.18958	CTC		0.443	PALLD-002	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000363762.1	NM_016081		11	36	0	0	0	1	0	11	36					G	169837159	T	G	169837159	3	3	395	1	0	0	0	0	1	0	0	0	11407	1551	54	5	3400	5	PALLD	4	169837159	Missense_Mutation	SNP	T	TCGA-V1-A9ZG-01A-11D-A41K-08	167530860	169837159	21317117	11	19327											
KIAA1430	57587	broad.mit.edu	37	chr4	186085310	186085310	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ataccaactgttggtttcacGgcctcaagccttttcaataa	11	13	6	11	1	3	0	3	0	0	0	3	0	3	0	3	2	3	2	3	2	5	6	rs374532666	byFrequency	TCGA-V1-A9ZG-01A-11D-A41K-08	TCGA-V1-A9ZG-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	463bc174-d782-4e0f-b8ab-e424b330c7f7	05454125-24ef-4c09-b1e9-71cd7a15a98e	g.chr4:186085310G>A	ENST00000458385.2	-	4	1463	c.1344C>T	c.(1342-1344)gcC>gcT	p.A448A		NM_020827.1	NP_065878.1	Q9P2B7	K1430_HUMAN		448										endometrium(3)|kidney(2)|large_intestine(5)|upper_aerodigestive_tract(1)	11		all_lung(41;1.19e-13)|Lung NSC(41;3.16e-13)|Hepatocellular(41;0.00826)|Colorectal(36;0.00872)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.243)		all cancers(43;9.44e-26)|Epithelial(43;2.64e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.66e-11)|Colorectal(24;6.03e-05)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.000331)|COAD - Colon adenocarcinoma(29;0.000427)|STAD - Stomach adenocarcinoma(60;0.000777)|LUSC - Lung squamous cell carcinoma(40;0.00924)|READ - Rectum adenocarcinoma(43;0.165)		TTGGTTTCACGGCCTCAAGCC	0.393													G|||	4	0.000798722	0	0	5008	,	,		18370	0		0	False		,,,				2504	0.0041					ENST00000458385.2																			0				endometrium(3)|kidney(2)|large_intestine(5)|upper_aerodigestive_tract(1)	11						c.(1342-1344)gcC>gcT		KIAA1430		G		0,3780		0,0,1890	117	109	112		1344	1.4	1	4		112	1,8223		0,1,4111	no	coding-synonymous	KIAA1430	NM_020827.1		0,1,6001	AA,AG,GG		0.0122,0.0,0.0083		448/533	186085310	1,12003	1890	4112	6002	SO:0001819	synonymous_variant	57587							g.chr4:186085310G>A																												ENST00000458385.2:c.1344C>T	4.37:g.186085310G>A							p.A448A	NM_020827.1	NP_065878.1	Q9P2B7	K1430_HUMAN		all cancers(43;9.44e-26)|Epithelial(43;2.64e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.66e-11)|Colorectal(24;6.03e-05)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.000331)|COAD - Colon adenocarcinoma(29;0.000427)|STAD - Stomach adenocarcinoma(60;0.000777)|LUSC - Lung squamous cell carcinoma(40;0.00924)|READ - Rectum adenocarcinoma(43;0.165)	4	1463	-		all_lung(41;1.19e-13)|Lung NSC(41;3.16e-13)|Hepatocellular(41;0.00826)|Colorectal(36;0.00872)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.243)	448					B3KRP7|D3DP60|Q05CU1|Q4W5M4|Q8N6E7|Q9UF45	Silent	SNP	ENST00000458385.2	37	c.1344C>T	CCDS47168.1																																																																																				0.393	KIAA1430-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000360717.2			7	26	0	0	0	1	0	7	26					A	186085310	G	A	186085310	2	1	395	1	0	0	0	0	0	0	0	1	8232	1103	39	2		2	KIAA1430	4	186085310	Silent	SNP	G	TCGA-V1-A9ZG-01A-11D-A41K-08	16248151	186085310	5068966	12	19328											
VARS2	57176	broad.mit.edu	37	chr6	30884915	30884915	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctgtgactgaagcttttgtgCggctctacaaggcggggttg	6	12	15	8	2	1	2	0	2	1	0	1	2	1	2	0	4	3	3	0	4	3	4	rs200002496		TCGA-V1-A9ZG-01A-11D-A41K-08	TCGA-V1-A9ZG-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	463bc174-d782-4e0f-b8ab-e424b330c7f7	05454125-24ef-4c09-b1e9-71cd7a15a98e	g.chr6:30884915C>T	ENST00000321897.5	+	8	1419	c.787C>T	c.(787-789)Cgg>Tgg	p.R263W	VARS2_ENST00000541562.1_Missense_Mutation_p.R293W|VARS2_ENST00000416670.2_Missense_Mutation_p.R263W|VARS2_ENST00000542001.1_Missense_Mutation_p.R123W			Q5ST30	SYVM_HUMAN	valyl-tRNA synthetase 2, mitochondrial	263					gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)|valyl-tRNA aminoacylation (GO:0006438)	mitochondrion (GO:0005739)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|valine-tRNA ligase activity (GO:0004832)	p.R263W(1)		central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(3)|prostate(3)|skin(4)|urinary_tract(1)	46						AGCTTTTGTGCGGCTCTACAA	0.557																																						ENST00000321897.5																			1	Substitution - Missense(1)	p.R263W(1)	lung(1)	central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(3)|prostate(3)|skin(4)|urinary_tract(1)	46						c.(787-789)Cgg>Tgg		valyl-tRNA synthetase 2, mitochondrial							163	159	161					6																	30884915		1511	2709	4220	SO:0001583	missense	57176				valyl-tRNA aminoacylation	mitochondrion	ATP binding|valine-tRNA ligase activity	g.chr6:30884915C>T	AB067472	CCDS34387.1, CCDS54980.1	6p21.33	2012-10-26	2012-10-26	2007-02-23	ENSG00000137411	ENSG00000137411	6.1.1.9	"Aminoacyl tRNA synthetases / Class I"	21642	protein-coding gene	gene with protein product	"valine tRNA ligase 2, mitochondrial"	612802	"valyl-tRNA synthetase 2-like", "valyl-tRNA synthetase like", "valyl-tRNA synthetase 2, mitochondrial (putative)"	VARS2L, VARSL		1898367, 11572484, 18400783	Standard	NM_001167734		Approved	DKFZP434L1435, KIAA1885, G7a	uc011dmz.2	Q5ST30	OTTHUMG00000031263	ENST00000321897.5:c.787C>T	6.37:g.30884915C>T	ENSP00000316092:p.Arg263Trp					VARS2_ENST00000542001.1_Missense_Mutation_p.R123W|VARS2_ENST00000541562.1_Missense_Mutation_p.R293W|VARS2_ENST00000416670.2_Missense_Mutation_p.R263W	p.R263W			Q5ST30	SYVM_HUMAN			8	1419	+			263					A2ABL7|B4DET4|B4E3P5|F5GXJ0|F5H323|Q2M2A0|Q59FI1|Q5SQ96|Q5SS98|Q6DKJ5|Q6ZV24|Q96GN2|Q96H77|Q96Q02|Q9H6R2|Q9UFH7	Missense_Mutation	SNP	ENST00000321897.5	37	c.787C>T	CCDS34387.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.202930	0.79127	.	.	ENSG00000137411	ENST00000321897;ENST00000416670;ENST00000542001;ENST00000428017;ENST00000541562	T;T;T;T;T	0.38240	1.15;1.15;1.15;1.15;1.15	4.98	4.98	0.66077	Rossmann-like alpha/beta/alpha sandwich fold (1);Aminoacyl-tRNA synthetase, class Ia (1);	0.137660	0.47852	D	0.000201	T	0.63873	0.2548	M	0.93106	3.38	0.41300	D	0.987033	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.997;0.998	T	0.73388	-0.3998	10	0.87932	D	0	-6.0214	15.7772	0.78232	0.0:1.0:0.0:0.0	.	263;293;263	B7ZL25;F5GXJ0;Q5ST30	.;.;SYVM_HUMAN	W	263;263;123;263;293	ENSP00000316092:R263W;ENSP00000394802:R263W;ENSP00000438200:R123W;ENSP00000403749:R263W;ENSP00000441000:R293W	ENSP00000316092:R263W	R	+	1	2	VARS2	30992894	1.000000	0.71417	1.000000	0.80357	0.843000	0.47879	3.036000	0.49767	2.581000	0.87130	0.655000	0.94253	CGG		0.557	VARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076566.2	NM_020442		4	100	0	0	0	1	0	4	100					T	30884915	C	T	30884915	3	4	395	1	0	0	0	0	1	0	0	0	17121	759	27	1	911	1	VARS2	6	30884915	Missense_Mutation	SNP	C	TCGA-V1-A9ZG-01A-11D-A41K-08		30884915	140230152	13	19329											
FGL2	10875	broad.mit.edu	37	chr7	76828505	76828505	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttattatacatacctggacgTgactgtatttgttcttggct	8	18	8	7	1	1	1	0	1	1	0	1	2	1	2	1	2	2	3	1	2	5	8			TCGA-V1-A9ZG-01A-11D-A41K-08	TCGA-V1-A9ZG-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	463bc174-d782-4e0f-b8ab-e424b330c7f7	05454125-24ef-4c09-b1e9-71cd7a15a98e	g.chr7:76828505T>A	ENST00000248598.5	-	1	638	c.606A>T	c.(604-606)tcA>tcT	p.S202S	RP11-467H10.2_ENST00000459742.1_RNA|CCDC146_ENST00000431197.1_Intron|CCDC146_ENST00000285871.4_Intron	NM_006682.2	NP_006673.1	Q14314	FGL2_HUMAN	fibrinogen-like 2	202						extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)				breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(2)	13						TACCTGGACGTGACTGTATTT	0.318																																						ENST00000248598.5																			0				breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(2)	13						c.(604-606)tcA>tcT		fibrinogen-like 2							116	114	115					7																	76828505		2203	4300	6503	SO:0001819	synonymous_variant	10875				signal transduction	fibrinogen complex	receptor binding	g.chr7:76828505T>A	Z36531	CCDS5591.1	7q11.23	2013-02-06			ENSG00000127951	ENSG00000127951		"Fibrinogen C domain containing"	3696	protein-coding gene	gene with protein product		605351				7642106	Standard	NM_006682		Approved	pT49, T49	uc003ugb.3	Q14314	OTTHUMG00000130681	ENST00000248598.5:c.606A>T	7.37:g.76828505T>A						CCDC146_ENST00000431197.1_Intron|CCDC146_ENST00000285871.4_Intron	p.S202S	NM_006682.2	NP_006673.1	Q14314	FGL2_HUMAN			1	638	-			202						Silent	SNP	ENST00000248598.5	37	c.606A>T	CCDS5591.1																																																																																				0.318	FGL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253176.1	NM_006682		7	55	0	0	0	1	0	7	55					A	76828505	T	A	76828505	2	1	395	1	0	0	0	0	0	0	0	1	5873	1683	59	5		5	FGL2	7	76828505	Silent	SNP	T	TCGA-V1-A9ZG-01A-11D-A41K-08		76828505	82310158	14	19330											
DMBT1	1755	broad.mit.edu	37	chr10	124358571	124358571	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cccacaatggctggctctccCacaactgtggccatagtgaa	10	8	9	14	0	1	1	0	1	1	0	2	1	1	1	3	3	1	2	3	3	4	1			TCGA-V1-A9ZG-01A-11D-A41K-08	TCGA-V1-A9ZG-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	463bc174-d782-4e0f-b8ab-e424b330c7f7	05454125-24ef-4c09-b1e9-71cd7a15a98e	g.chr10:124358571C>T	ENST00000338354.3	+	26	3344	c.3238C>T	c.(3238-3240)Cac>Tac	p.H1080Y	DMBT1_ENST00000330163.4_Missense_Mutation_p.H581Y|DMBT1_ENST00000344338.3_Missense_Mutation_p.H1070Y|DMBT1_ENST00000368955.3_Missense_Mutation_p.H1070Y|DMBT1_ENST00000359586.6_Intron|DMBT1_ENST00000368956.2_Missense_Mutation_p.H581Y|DMBT1_ENST00000368909.3_Missense_Mutation_p.H1080Y			Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	1080	SRCR 8. {ECO:0000255|PROSITE- ProRule:PRU00196}.				defense response to virus (GO:0051607)|epithelial cell differentiation (GO:0030855)|induction of bacterial agglutination (GO:0043152)|innate immune response (GO:0045087)|inner cell mass cell proliferation (GO:0001833)|pattern recognition receptor signaling pathway (GO:0002221)|positive regulation of epithelial cell differentiation (GO:0030858)|protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)|viral process (GO:0016032)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|phagocytic vesicle membrane (GO:0030670)|proteinaceous extracellular matrix (GO:0005578)|zymogen granule membrane (GO:0042589)	calcium-dependent protein binding (GO:0048306)|scavenger receptor activity (GO:0005044)|signaling pattern recognition receptor activity (GO:0008329)|zymogen binding (GO:0035375)			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				CTGGCTCTCCCACAACTGTGG	0.567																																					Ovarian(182;93 2026 18125 22222 38972)	ENST00000368909.3																			0				breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72						c.(3238-3240)Cac>Tac		deleted in malignant brain tumors 1							101	96	97					10																	124358571		1929	4139	6068	SO:0001583	missense	1755				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding	g.chr10:124358571C>T		CCDS44490.1, CCDS44491.1, CCDS44492.1	10q25.3-q26.1	2008-08-01			ENSG00000187908	ENSG00000187908			2926	protein-coding gene	gene with protein product		601969				9288095, 17548659	Standard	NM_004406		Approved	GP340, muclin	uc001lgk.1	Q9UGM3	OTTHUMG00000019185	ENST00000338354.3:c.3238C>T	10.37:g.124358571C>T	ENSP00000342210:p.His1080Tyr					DMBT1_ENST00000344338.3_Missense_Mutation_p.H1070Y|DMBT1_ENST00000359586.6_Intron|DMBT1_ENST00000368956.2_Missense_Mutation_p.H581Y|DMBT1_ENST00000330163.4_Missense_Mutation_p.H581Y|DMBT1_ENST00000368955.3_Missense_Mutation_p.H1070Y|DMBT1_ENST00000338354.3_Missense_Mutation_p.H1080Y	p.H1080Y	NM_007329.2	NP_015568.2	Q9UGM3	DMBT1_HUMAN			26	3344	+		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)	1080			SRCR 8.		A6NDG4|A6NDJ5|A8E4R5|B1ARE7|B1ARE8|B1ARE9|B1ARF0|B7Z8Y2|F8WEF7|Q59EX0|Q5JR26|Q6MZN4|Q96DU4|Q9UGM2|Q9UJ57|Q9UKJ4|Q9Y211|Q9Y4V9	Missense_Mutation	SNP	ENST00000338354.3	37	c.3238C>T		.	.	.	.	.	.	.	.	.	.	C	11.45	1.642087	0.29157	.	.	ENSG00000187908	ENST00000338354;ENST00000368915;ENST00000341278;ENST00000368953;ENST00000339871;ENST00000368942;ENST00000327438;ENST00000344338;ENST00000339712;ENST00000330163;ENST00000368909;ENST00000368955;ENST00000368956	T;T;T;T;T;T	0.47177	0.85;0.85;0.85;0.85;0.85;0.85	3.57	0.434	0.16539	Speract/scavenger receptor (2);Speract/scavenger receptor-related (2);	1.408720	0.04936	N	0.457790	T	0.72479	0.3465	M	0.91663	3.23	0.27430	N	0.954031	D;D;D;B;B	0.76494	0.999;0.983;0.997;0.01;0.049	D;P;D;B;B	0.85130	0.997;0.777;0.983;0.015;0.026	T	0.49457	-0.8938	10	0.44086	T	0.13	.	6.2592	0.20891	0.1474:0.6859:0.0:0.1667	.	587;1080;581;1070;1080	Q9UGM3-8;Q9UGM3-6;Q9UGM3-2;Q9UGM3-3;Q9UGM3	.;.;.;.;DMBT1_HUMAN	Y	1080;1080;1080;1080;1080;1080;581;1070;581;581;1080;1070;581	ENSP00000342210:H1080Y;ENSP00000343175:H1070Y;ENSP00000327747:H581Y;ENSP00000357905:H1080Y;ENSP00000357951:H1070Y;ENSP00000357952:H581Y	ENSP00000331522:H581Y	H	+	1	0	DMBT1	124348561	0.001000	0.12720	0.000000	0.03702	0.008000	0.06430	0.758000	0.26447	-0.147000	0.11254	0.558000	0.71614	CAC		0.567	DMBT1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000050792.2	NM_004406		25	111	0	0	0	1	0	25	111					T	124358571	C	T	124358571	3	4	395	1	0	0	0	0	1	0	0	0	4577	594	21	3	3340	3	DMBT1	10	124358571	Missense_Mutation	SNP	C	TCGA-V1-A9ZG-01A-11D-A41K-08		124358571	11176176	15	19331											
MICAL2	9645	broad.mit.edu	37	chr11	12257790	12257790	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agggcttcaccaacctggacGaggtttgtgtacacagtgtg	9	10	13	9	1	1	0	1	0	0	0	1	2	1	1	2	3	2	3	2	3	2	3			TCGA-V1-A9ZG-01A-11D-A41K-08	TCGA-V1-A9ZG-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	463bc174-d782-4e0f-b8ab-e424b330c7f7	05454125-24ef-4c09-b1e9-71cd7a15a98e	g.chr11:12257790G>A	ENST00000256194.4	+	16	2350	c.2062G>A	c.(2062-2064)Gag>Aag	p.E688K	MICAL2_ENST00000379612.3_Missense_Mutation_p.E688K|MICAL2_ENST00000537344.1_Missense_Mutation_p.E688K|MICAL2_ENST00000342902.5_Missense_Mutation_p.E688K|MICAL2_ENST00000527546.1_Missense_Mutation_p.E688K	NM_001282663.1|NM_014632.2	NP_001269592.1|NP_055447.1	O94851	MICA2_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 2	688					actin filament depolymerization (GO:0030042)|cytoskeleton organization (GO:0007010)|heart development (GO:0007507)|heart looping (GO:0001947)|oxidation-reduction process (GO:0055114)|positive regulation of transcription via serum response element binding (GO:0010735)|sulfur oxidation (GO:0019417)	nucleus (GO:0005634)	actin binding (GO:0003779)|FAD binding (GO:0071949)|NADPH:sulfur oxidoreductase activity (GO:0043914)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen (GO:0016709)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	47				Epithelial(150;0.00552)		CAACCTGGACGAGGTTTGTGT	0.552											OREG0020771	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000256194.4																			0				breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	47						c.(2062-2064)Gag>Aag		microtubule associated monooxygenase, calponin and LIM domain containing 2							155	116	129					11																	12257790		2201	4294	6495	SO:0001583	missense	9645					cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding	g.chr11:12257790G>A	AB018293	CCDS7809.1, CCDS60726.1, CCDS60727.1, CCDS60728.1	11p15.3	2014-08-12	2013-03-26		ENSG00000133816	ENSG00000133816			24693	protein-coding gene	gene with protein product		608881				12110185	Standard	XM_005253249		Approved	KIAA0750	uc001mjz.3	O94851	OTTHUMG00000165744	ENST00000256194.4:c.2062G>A	11.37:g.12257790G>A	ENSP00000256194:p.Glu688Lys		OREG0020771	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	678	MICAL2_ENST00000527546.1_Missense_Mutation_p.E688K|MICAL2_ENST00000342902.5_Missense_Mutation_p.E688K|MICAL2_ENST00000537344.1_Missense_Mutation_p.E688K|MICAL2_ENST00000379612.3_Missense_Mutation_p.E688K	p.E688K	NM_014632.2	NP_055447.1	O94851	MICA2_HUMAN		Epithelial(150;0.00552)	16	2350	+			688					B4DGZ0|B7Z849|D3DQW5|G3XAC8|Q5KTR3|Q5KTR4|Q7Z3A8	Missense_Mutation	SNP	ENST00000256194.4	37	c.2062G>A	CCDS7809.1	.	.	.	.	.	.	.	.	.	.	G	15.53	2.861742	0.51482	.	.	ENSG00000133816	ENST00000537344;ENST00000544073;ENST00000256194;ENST00000527546;ENST00000342902;ENST00000379612	T;T;T;T;T	0.64260	-0.01;-0.07;-0.01;-0.09;0.09	5.39	4.47	0.54385	.	0.000000	0.85682	D	0.000000	T	0.57770	0.2076	L	0.58101	1.795	0.53005	D	0.999968	P;P;P;B;P;P	0.51791	0.525;0.75;0.948;0.017;0.936;0.5	B;B;B;B;B;B	0.41374	0.085;0.165;0.355;0.004;0.242;0.251	T	0.59434	-0.7455	10	0.33141	T	0.24	.	14.3305	0.66553	0.0:0.1495:0.8505:0.0	.	221;688;688;688;688;688	B4DYS3;G3XAC8;B7Z849;Q5KTR3;Q5KTR4;O94851	.;.;.;.;.;MICA2_HUMAN	K	688;221;688;688;688;688	ENSP00000441689:E688K;ENSP00000256194:E688K;ENSP00000433965:E688K;ENSP00000344894:E688K;ENSP00000368932:E688K	ENSP00000256194:E688K	E	+	1	0	MICAL2	12214366	1.000000	0.71417	0.792000	0.32020	0.060000	0.15804	3.480000	0.53172	1.398000	0.46701	-0.150000	0.13652	GAG		0.552	MICAL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385993.1	NM_014632		10	43	0	0	0	1	0	10	43					A	12257790	G	A	12257790	3	1	395	1	0	0	0	0	1	0	0	0	9570	1059	37	2	2116	2	MICAL2	11	12257790	Missense_Mutation	SNP	G	TCGA-V1-A9ZG-01A-11D-A41K-08		12257790	122748726	16	19332											
OR5A1	219982	broad.mit.edu	37	chr11	59210668	59210668	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ataaccaaagcctggaacagCtcatcagtgaccatgttcat	14	9	7	11	0	3	1	3	1	0	0	3	2	3	2	3	1	4	2	3	1	3	2			TCGA-V1-A9ZG-01A-11D-A41K-08	TCGA-V1-A9ZG-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	463bc174-d782-4e0f-b8ab-e424b330c7f7	05454125-24ef-4c09-b1e9-71cd7a15a98e	g.chr11:59210668C>T	ENST00000302030.2	+	1	52	c.27C>T	c.(25-27)agC>agT	p.S9S		NM_001004728.1	NP_001004728.1	Q8NGJ0	OR5A1_HUMAN	olfactory receptor, family 5, subfamily A, member 1	9						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	28						CCTGGAACAGCTCATCAGTGA	0.507																																						ENST00000302030.2																			0				central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	28						c.(25-27)agC>agT		olfactory receptor, family 5, subfamily A, member 1							116	106	109					11																	59210668		2201	4295	6496	SO:0001819	synonymous_variant	219982				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:59210668C>T	AB065804	CCDS31561.1	11q12.1	2012-08-09			ENSG00000172320	ENSG00000172320		"GPCR / Class A : Olfactory receptors"	8319	protein-coding gene	gene with protein product				OR5A1P			Standard	NM_001004728		Approved	OST181	uc001nnx.1	Q8NGJ0	OTTHUMG00000167339	ENST00000302030.2:c.27C>T	11.37:g.59210668C>T							p.S9S	NM_001004728.1	NP_001004728.1	Q8NGJ0	OR5A1_HUMAN			1	52	+			9					B9EH58|Q6IFF2|Q96RB1	Silent	SNP	ENST00000302030.2	37	c.27C>T	CCDS31561.1																																																																																				0.507	OR5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394233.1	NM_001004728		8	34	0	0	0	1	0	8	34					T	59210668	C	T	59210668	2	4	395	1	0	0	0	0	0	0	0	1	11139	796	28	3		3	OR5A1	11	59210668	Silent	SNP	C	TCGA-V1-A9ZG-01A-11D-A41K-08	46952878	59210668	75795848	17	19333											
PRDM10	56980	broad.mit.edu	37	chr11	129807533	129807533	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgtcatgaattttctggttCacgaactcagcataggatgc	11	13	9	8	1	4	1	3	1	1	0	4	3	4	2	0	2	3	2	0	2	3	4			TCGA-V1-A9ZG-01A-11D-A41K-08	TCGA-V1-A9ZG-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	463bc174-d782-4e0f-b8ab-e424b330c7f7	05454125-24ef-4c09-b1e9-71cd7a15a98e	g.chr11:129807533C>A	ENST00000360871.3	-	8	1230	c.999G>T	c.(997-999)gtG>gtT	p.V333V	PRDM10_ENST00000358825.5_Silent_p.V333V|PRDM10_ENST00000304538.6_Silent_p.V247V|PRDM10_ENST00000526082.1_Silent_p.V247V|PRDM10_ENST00000423662.2_Silent_p.V247V|PRDM10_ENST00000528746.1_Silent_p.V307V	NM_199437.1	NP_955469.1	Q9NQV6	PRD10_HUMAN	PR domain containing 10	333					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)			breast(2)|endometrium(6)|kidney(3)|large_intestine(14)|lung(15)|pancreas(2)|skin(1)|stomach(3)|urinary_tract(2)	48	all_hematologic(175;0.0537)	Breast(109;0.000496)|Lung NSC(97;0.000693)|all_lung(97;0.00151)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0174)|Lung(977;0.176)|LUSC - Lung squamous cell carcinoma(976;0.185)		TTTTCTGGTTCACGAACTCAG	0.363																																						ENST00000358825.5																			0				breast(2)|endometrium(6)|kidney(3)|large_intestine(14)|lung(15)|pancreas(2)|skin(1)|stomach(3)|urinary_tract(2)	48						c.(997-999)gtG>gtT		PR domain containing 10							98	89	92					11																	129807533		2201	4297	6498	SO:0001819	synonymous_variant	56980				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr11:129807533C>A	AF275817	CCDS8484.1, CCDS8485.1, CCDS44771.1, CCDS44772.1	11q24.3	2013-01-08			ENSG00000170325	ENSG00000170325		"Zinc fingers, C2H2-type"	13995	protein-coding gene	gene with protein product	"PRDM zinc finger transcription factor", "PR-domain family member 7", "tristanin"					12175877	Standard	NM_020228		Approved	KIAA1231, PFM7, MGC131802	uc001qfm.3	Q9NQV6	OTTHUMG00000165762	ENST00000360871.3:c.999G>T	11.37:g.129807533C>A						PRDM10_ENST00000526082.1_Silent_p.V247V|PRDM10_ENST00000304538.6_Silent_p.V247V|PRDM10_ENST00000360871.3_Silent_p.V333V|PRDM10_ENST00000528746.1_Silent_p.V307V|PRDM10_ENST00000423662.2_Silent_p.V247V	p.V333V	NM_020228.2	NP_064613.2	Q9NQV6	PRD10_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.0174)|Lung(977;0.176)|LUSC - Lung squamous cell carcinoma(976;0.185)	8	1230	-	all_hematologic(175;0.0537)	Breast(109;0.000496)|Lung NSC(97;0.000693)|all_lung(97;0.00151)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)	333					B7ZL71|G3XAE5|J3KP23|Q17R90|Q2KHR4|Q863Z2|Q9NXI4|Q9ULI9	Silent	SNP	ENST00000360871.3	37	c.999G>T	CCDS8484.1																																																																																				0.363	PRDM10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386076.1	NM_199437		7	32	1	0	0.0381472	1	0.0381472	7	32					A	129807533	C	A	129807533	2	1	395	1	0	0	0	0	0	0	0	1	12451	813	29	5		5	PRDM10	11	129807533	Silent	SNP	C	TCGA-V1-A9ZG-01A-11D-A41K-08	70596865	129807533	5198983	18	19334											
ESYT1	23344	broad.mit.edu	37	chr12	56527593	56527593	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtggaattggggagtctcctCtcgaccagatcccccgtcag	7	9	12	13	2	3	1	1	0	2	1	6	4	4	3	4	3	0	0	4	3	1	1			TCGA-V1-A9ZG-01A-11D-A41K-08	TCGA-V1-A9ZG-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	463bc174-d782-4e0f-b8ab-e424b330c7f7	05454125-24ef-4c09-b1e9-71cd7a15a98e	g.chr12:56527593C>T	ENST00000394048.5	+	13	1673	c.1409C>T	c.(1408-1410)tCt>tTt	p.S470F	ESYT1_ENST00000267113.4_Missense_Mutation_p.S470F|ESYT1_ENST00000541590.1_Missense_Mutation_p.S470F	NM_001184796.1|NM_015292.2	NP_001171725.1|NP_056107.1	Q9BSJ8	ESYT1_HUMAN	extended synaptotagmin-like protein 1	470	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				lipid transport (GO:0006869)	integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)|metal ion binding (GO:0046872)			breast(2)|endometrium(2)|large_intestine(4)|lung(10)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1)	28						GGAGTCTCCTCTCGACCAGAT	0.552																																						ENST00000394048.5																			0				breast(2)|endometrium(2)|large_intestine(4)|lung(10)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1)	28						c.(1408-1410)tCt>tTt		extended synaptotagmin-like protein 1							108	103	105					12																	56527593		2203	4300	6503	SO:0001583	missense	23344					integral to membrane		g.chr12:56527593C>T	AK074368	CCDS8904.1, CCDS53801.1	12q13.2	2014-07-02	2009-06-23	2009-06-23		ENSG00000139641		"Synaptotagmins"	29534	protein-coding gene	gene with protein product			"family with sequence similarity 62 (C2 domain containing), member A"	FAM62A		9872452, 10350628, 17672888	Standard	NM_015292		Approved	MBC2, KIAA0747	uc001sjr.3	Q9BSJ8		ENST00000394048.5:c.1409C>T	12.37:g.56527593C>T	ENSP00000377612:p.Ser470Phe					ESYT1_ENST00000267113.4_Missense_Mutation_p.S470F|ESYT1_ENST00000541590.1_Missense_Mutation_p.S470F	p.S470F	NM_001184796.1|NM_015292.2	NP_001171725.1|NP_056107.1	Q9BSJ8	ESYT1_HUMAN			13	1673	+			470			C2 2.		A0FGR7|A8K2S2|O94848|Q6PJN4|Q9H6J1|Q9H6W2|Q9Y416	Missense_Mutation	SNP	ENST00000394048.5	37	c.1409C>T	CCDS8904.1	.	.	.	.	.	.	.	.	.	.	C	17.99	3.523987	0.64747	.	.	ENSG00000139641	ENST00000394048;ENST00000402331;ENST00000267113;ENST00000541590	T;T;T	0.57752	0.38;0.38;0.38	5.39	4.5	0.54988	.	0.330767	0.30890	N	0.008680	T	0.56834	0.2012	N	0.22421	0.69	0.41700	D	0.989398	D;D	0.76494	0.999;0.996	D;P	0.74348	0.983;0.823	T	0.61073	-0.7136	10	0.62326	D	0.03	-15.1881	11.4248	0.50004	0.0:0.9149:0.0:0.0851	.	470;470	Q9BSJ8-2;Q9BSJ8	.;ESYT1_HUMAN	F	470;424;470;470	ENSP00000377612:S470F;ENSP00000267113:S470F;ENSP00000445952:S470F	ENSP00000267113:S470F	S	+	2	0	ESYT1	54813860	0.997000	0.39634	0.992000	0.48379	0.961000	0.63080	4.266000	0.58871	1.422000	0.47177	0.563000	0.77884	TCT		0.552	ESYT1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000407906.1	NM_015292		6	72	0	0	0	1	0	6	72					T	56527593	C	T	56527593	3	4	395	1	0	0	0	0	1	0	0	0	5264	913	32	3	1459	3	ESYT1	12	56527593	Missense_Mutation	SNP	C	TCGA-V1-A9ZG-01A-11D-A41K-08		56527593	77324302	19	19335											
OAS3	4940	broad.mit.edu	37	chr12	113384760	113384760	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gaccctgcagttgggcagttCttgcagcggcagcttaagag	8	9	14	10	1	1	1	0	0	1	1	1	2	1	1	1	2	4	7	1	2	1	4			TCGA-V1-A9ZG-01A-11D-A41K-08	TCGA-V1-A9ZG-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	463bc174-d782-4e0f-b8ab-e424b330c7f7	05454125-24ef-4c09-b1e9-71cd7a15a98e	g.chr12:113384760C>T	ENST00000228928.7	+	4	1028	c.849C>T	c.(847-849)ttC>ttT	p.F283F	RP1-71H24.1_ENST00000552784.1_RNA|OAS3_ENST00000546638.1_3'UTR	NM_006187.2	NP_006178.2	Q9Y6K5	OAS3_HUMAN	2'-5'-oligoadenylate synthetase 3, 100kDa	283	OAS domain 1.				cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of viral genome replication (GO:0045071)|nucleobase-containing compound metabolic process (GO:0006139)|regulation of ribonuclease activity (GO:0060700)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	2'-5'-oligoadenylate synthetase activity (GO:0001730)|ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)			breast(3)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(6)|ovary(1)|skin(2)	27						TTGGGCAGTTCTTGCAGCGGC	0.557																																						ENST00000228928.7																			0				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(6)|ovary(1)|skin(2)	27						c.(847-849)ttC>ttT		2'-5'-oligoadenylate synthetase 3, 100kDa							78	81	80					12																	113384760		1979	4162	6141	SO:0001819	synonymous_variant	4940				interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway	microsome	ATP binding|nucleotidyltransferase activity|RNA binding	g.chr12:113384760C>T	AF063613	CCDS44981.1	12q24.2	2008-05-02	2002-08-29			ENSG00000111331			8088	protein-coding gene	gene with protein product		603351	"2'-5'-oligoadenylate synthetase 3 (100 kD)"			9790745	Standard	NM_006187		Approved		uc001tug.3	Q9Y6K5	OTTHUMG00000169795	ENST00000228928.7:c.849C>T	12.37:g.113384760C>T						RP1-71H24.1_ENST00000552784.1_RNA|OAS3_ENST00000546638.1_3'UTR	p.F283F	NM_006187.2	NP_006178.2	Q9Y6K5	OAS3_HUMAN			4	1028	+			283			OAS domain 1.		Q2HJ14|Q9H3P5	Silent	SNP	ENST00000228928.7	37	c.849C>T	CCDS44981.1																																																																																				0.557	OAS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405920.1			5	27	0	0	0	1	0	5	27					T	113384760	C	T	113384760	2	4	395	1	0	0	0	0	0	0	0	1	10801	912	32	3		3	OAS3	12	113384760	Silent	SNP	C	TCGA-V1-A9ZG-01A-11D-A41K-08	56857167	113384760	20467135	20	19336											
GTF2H3	2967	broad.mit.edu	37	chr12	124139496	124139496	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	taaggctgcagaagacagtgCgttgcagtatatgaacttca	13	10	11	7	1	1	3	1	1	0	2	1	3	1	3	0	1	4	5	0	1	5	5	rs374279157		TCGA-V1-A9ZG-01A-11D-A41K-08	TCGA-V1-A9ZG-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	463bc174-d782-4e0f-b8ab-e424b330c7f7	05454125-24ef-4c09-b1e9-71cd7a15a98e	g.chr12:124139496C>T	ENST00000543341.2	+	8	543	c.512C>T	c.(511-513)gCg>gTg	p.A171V	GTF2H3_ENST00000228955.7_Missense_Mutation_p.A130V	NM_001271867.1|NM_001516.3	NP_001258796.1|NP_001507.2	Q13889	TF2H3_HUMAN	general transcription factor IIH, polypeptide 3, 34kDa	171					7-methylguanosine mRNA capping (GO:0006370)|ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)|gene expression (GO:0010467)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|positive regulation of viral transcription (GO:0050434)|protein phosphorylation (GO:0006468)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|translation (GO:0006412)|viral process (GO:0016032)	core TFIIH complex (GO:0000439)|holo TFIIH complex (GO:0005675)|nucleoplasm (GO:0005654)	damaged DNA binding (GO:0003684)|metal ion binding (GO:0046872)|protein N-terminus binding (GO:0047485)|sequence-specific DNA binding transcription factor activity (GO:0003700)|translation factor activity, nucleic acid binding (GO:0008135)			breast(2)|endometrium(1)|large_intestine(4)|lung(2)|urinary_tract(1)	10	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.1e-05)|Epithelial(86;0.000388)|all cancers(50;0.00362)		GAAGACAGTGCGTTGCAGTAT	0.428								Nucleotide excision repair (NER)																													Melanoma(176;111 2022 3038 14733 36962)	ENST00000543341.2																			0				breast(2)|endometrium(1)|large_intestine(4)|lung(2)|urinary_tract(1)	10						c.(511-513)gCg>gTg	Nucleotide excision repair (NER)	general transcription factor IIH, polypeptide 3, 34kDa							222	183	196					12																	124139496		2203	4300	6503	SO:0001583	missense	2967				mRNA capping|nucleotide-excision repair, DNA damage removal|positive regulation of viral transcription|protein phosphorylation|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	core TFIIH complex|holo TFIIH complex	damaged DNA binding|metal ion binding|protein N-terminus binding|sequence-specific DNA binding transcription factor activity|translation factor activity, nucleic acid binding	g.chr12:124139496C>T	Z30093	CCDS9252.1, CCDS61275.1, CCDS73544.1	12q24.31	2012-11-05	2002-08-29		ENSG00000111358	ENSG00000111358		"General transcription factors", "General transcription factor IIH complex subunits"	4657	protein-coding gene	gene with protein product		601750	"general transcription factor IIH, polypeptide 3 (34kD subunit)"			8194529	Standard	NM_001516		Approved	BTF2, TFIIH, P34	uc001ufo.2	Q13889	OTTHUMG00000168697	ENST00000543341.2:c.512C>T	12.37:g.124139496C>T	ENSP00000445162:p.Ala171Val					GTF2H3_ENST00000228955.7_Missense_Mutation_p.A130V	p.A171V	NM_001271867.1|NM_001516.3	NP_001258796.1|NP_001507.2	Q13889	TF2H3_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;7.1e-05)|Epithelial(86;0.000388)|all cancers(50;0.00362)	8	543	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		171					B2R819|B4DNZ6|Q7L0G0|Q96AT7	Missense_Mutation	SNP	ENST00000543341.2	37	c.512C>T	CCDS9252.1	.	.	.	.	.	.	.	.	.	.	C	35	5.492126	0.96339	.	.	ENSG00000111358	ENST00000539994;ENST00000538845;ENST00000228955;ENST00000543341;ENST00000542231;ENST00000543154	.	.	.	5.91	5.91	0.95273	.	0.057084	0.64402	D	0.000001	T	0.78773	0.4336	M	0.77616	2.38	0.54753	D	0.999985	D	0.69078	0.997	P	0.61658	0.892	T	0.80484	-0.1362	9	0.87932	D	0	.	18.5356	0.91009	0.0:1.0:0.0:0.0	.	171	Q13889	TF2H3_HUMAN	V	161;186;130;171;121;75	.	ENSP00000228955:A130V	A	+	2	0	GTF2H3	122705449	1.000000	0.71417	0.266000	0.24541	0.972000	0.66771	7.445000	0.80570	2.812000	0.96745	0.558000	0.71614	GCG		0.428	GTF2H3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400641.2	NM_001516		15	46	0	0	0	1	0	15	46					T	124139496	C	T	124139496	3	4	395	1	0	0	0	0	1	0	0	0	6864	768	27	1	542	1	GTF2H3	12	124139496	Missense_Mutation	SNP	C	TCGA-V1-A9ZG-01A-11D-A41K-08	10754736	124139496	9712399	21	19337											
GANC	2595	broad.mit.edu	37	chr15	42598785	42598785	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtgggaagagaaatttggAaaatttgtggatatcaaagc	15	11	12	3	0	1	1	1	0	0	1	1	5	1	4	0	3	1	0	0	3	6	3			TCGA-V1-A9ZG-01A-11D-A41K-08	TCGA-V1-A9ZG-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	463bc174-d782-4e0f-b8ab-e424b330c7f7	05454125-24ef-4c09-b1e9-71cd7a15a98e	g.chr15:42598785A>G	ENST00000318010.8	+	7	840	c.600A>G	c.(598-600)ggA>ggG	p.G200G	GANC_ENST00000566442.1_Silent_p.G200G	NM_198141.2	NP_937784.2	Q8TET4	GANC_HUMAN	glucosidase, alpha; neutral C	200					carbohydrate metabolic process (GO:0005975)		alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|maltose alpha-glucosidase activity (GO:0032450)			breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		all_cancers(109;3.08e-16)|all_epithelial(112;7.48e-15)|Lung NSC(122;3.08e-09)|all_lung(180;1.48e-08)|Melanoma(134;0.0574)|Colorectal(260;0.153)		GBM - Glioblastoma multiforme(94;1.06e-06)	Miglitol(DB00491)	AGAAATTTGGAAAATTTGTGG	0.328																																						ENST00000318010.8																			0				breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						c.(598-600)ggA>ggG		glucosidase, alpha; neutral C							87	88	88					15																	42598785		2203	4299	6502	SO:0001819	synonymous_variant	2595				carbohydrate metabolic process		carbohydrate binding|maltose alpha-glucosidase activity	g.chr15:42598785A>G	AF545045	CCDS10084.1	15q15.2	2012-10-02			ENSG00000214013	ENSG00000214013	3.2.1.20		4139	protein-coding gene	gene with protein product		104180				6995030, 12370436	Standard	NM_198141		Approved		uc001zpi.3	Q8TET4	OTTHUMG00000130487	ENST00000318010.8:c.600A>G	15.37:g.42598785A>G						GANC_ENST00000566442.1_Silent_p.G200G	p.G200G	NM_198141.2	NP_937784.2	Q8TET4	GANC_HUMAN		GBM - Glioblastoma multiforme(94;1.06e-06)	7	840	+		all_cancers(109;3.08e-16)|all_epithelial(112;7.48e-15)|Lung NSC(122;3.08e-09)|all_lung(180;1.48e-08)|Melanoma(134;0.0574)|Colorectal(260;0.153)	200					Q52LQ4|Q8IWZ0|Q8IZM4|Q8IZM5	Silent	SNP	ENST00000318010.8	37	c.600A>G	CCDS10084.1																																																																																				0.328	GANC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252887.2	NM_198141		5	24	0	0	0	1	0	5	24					G	42598785	A	G	42598785	2	3	395	1	0	0	0	0	0	0	0	1	6234	233	9	4		4	GANC	15	42598785	Silent	SNP	A	TCGA-V1-A9ZG-01A-11D-A41K-08		42598785	59932607	22	19338											
FAM86A	196483	broad.mit.edu	37	chr16	5140517	5140517	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgaccaggcctgtggtaccgTaggagatgatggccgtgctc	7	9	15	10	2	0	3	0	2	0	1	1	4	0	3	4	4	2	3	4	4	2	2			TCGA-V1-A9ZG-01A-11D-A41K-08	TCGA-V1-A9ZG-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	463bc174-d782-4e0f-b8ab-e424b330c7f7	05454125-24ef-4c09-b1e9-71cd7a15a98e	g.chr16:5140517T>C	ENST00000427587.4	-	5	460	c.392A>G	c.(391-393)tAc>tGc	p.Y131C	FAM86A_ENST00000458008.4_Missense_Mutation_p.Y97C|FAM86A_ENST00000587133.1_Missense_Mutation_p.Y70C	NM_201400.2	NP_958802.1	Q96G04	FA86A_HUMAN	family with sequence similarity 86, member A	131						cytoplasm (GO:0005737)				endometrium(1)|large_intestine(2)|lung(4)|prostate(3)|skin(2)	12						TGTGGTACCGTAGGAGATGAT	0.617																																						ENST00000427587.4																			0				endometrium(1)|large_intestine(2)|lung(4)|prostate(3)|skin(2)	12						c.(391-393)tAc>tGc		family with sequence similarity 86, member A							89	88	88					16																	5140517		2197	4300	6497	SO:0001583	missense	196483							g.chr16:5140517T>C	BC010084	CCDS10529.1, CCDS10530.1, CCDS73823.1	16p13.3	2012-11-07			ENSG00000118894	ENSG00000118894			32221	protein-coding gene	gene with protein product		615263					Standard	NM_201400		Approved	SB153, MGC19636	uc002cyo.2	Q96G04	OTTHUMG00000129527	ENST00000427587.4:c.392A>G	16.37:g.5140517T>C	ENSP00000398502:p.Tyr131Cys					FAM86A_ENST00000587133.1_Missense_Mutation_p.Y70C|FAM86A_ENST00000458008.4_Missense_Mutation_p.Y97C	p.Y131C	NM_201400.2	NP_958802.1	Q96G04	FA86A_HUMAN			5	460	-			131					D3DUF0|Q96S85	Missense_Mutation	SNP	ENST00000427587.4	37	c.392A>G	CCDS10529.1	.	.	.	.	.	.	.	.	.	.	t	7.335	0.619803	0.14193	.	.	ENSG00000118894	ENST00000458008;ENST00000427587	T;T	0.17213	2.29;4.07	5.02	5.02	0.67125	.	0.647410	0.15161	N	0.277161	T	0.20536	0.0494	M	0.80183	2.485	0.09310	N	1	B;P	0.35774	0.05;0.519	B;B	0.31495	0.024;0.131	T	0.26710	-1.0095	10	0.45353	T	0.12	.	7.3965	0.26939	0.0:0.0952:0.0:0.9048	.	97;131	Q96G04-2;Q96G04	.;FA86A_HUMAN	C	97;131	ENSP00000389710:Y97C;ENSP00000398502:Y131C	ENSP00000398502:Y131C	Y	-	2	0	FAM86A	5080518	0.671000	0.27521	0.336000	0.25522	0.013000	0.08279	2.508000	0.45450	2.117000	0.64856	0.370000	0.22315	TAC		0.617	FAM86A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251713.1	NM_201400		11	72	0	0	0	1	0	11	72					C	5140517	T	C	5140517	3	2	395	1	0	0	0	0	1	0	0	0	5643	1638	57	4	616	4	FAM86A	16	5140517	Missense_Mutation	SNP	T	TCGA-V1-A9ZG-01A-11D-A41K-08		5140517	85214236	23	19339											
LRRC36	55282	broad.mit.edu	37	chr16	67384185	67384185	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgctaatgttgacagcaggaTtgaaatgggtaagttttctc	11	14	11	5	0	1	2	0	2	1	0	2	3	1	3	0	2	2	5	0	2	3	6			TCGA-V1-A9ZG-01A-11D-A41K-08	TCGA-V1-A9ZG-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	463bc174-d782-4e0f-b8ab-e424b330c7f7	05454125-24ef-4c09-b1e9-71cd7a15a98e	g.chr16:67384185T>C	ENST00000329956.6	+	5	588	c.569T>C	c.(568-570)aTt>aCt	p.I190T	LRRC36_ENST00000435835.3_Missense_Mutation_p.I69T|LRRC36_ENST00000541146.1_5'UTR|LRRC36_ENST00000563189.1_Missense_Mutation_p.I69T|LRRC36_ENST00000563303.1_3'UTR|LRRC36_ENST00000290940.7_5'UTR	NM_018296.5	NP_060766.5	Q1X8D7	LRC36_HUMAN	leucine rich repeat containing 36	190										endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	24		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0669)|Epithelial(162;0.161)		GACAGCAGGATTGAAATGGGT	0.378																																						ENST00000329956.6																			0				endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	24						c.(568-570)aTt>aCt		leucine rich repeat containing 36							138	144	142					16																	67384185		2198	4300	6498	SO:0001583	missense	55282							g.chr16:67384185T>C	BC026156	CCDS32467.1, CCDS58474.1	16q22.1	2008-02-05				ENSG00000159708			25615	protein-coding gene	gene with protein product						12477932	Standard	NM_001161575		Approved	FLJ11004	uc002esv.3	Q1X8D7		ENST00000329956.6:c.569T>C	16.37:g.67384185T>C	ENSP00000329943:p.Ile190Thr					LRRC36_ENST00000563303.1_3'UTR|LRRC36_ENST00000290940.7_5'UTR|LRRC36_ENST00000541146.1_5'UTR|LRRC36_ENST00000563189.1_Missense_Mutation_p.I69T|LRRC36_ENST00000435835.3_Missense_Mutation_p.I69T	p.I190T	NM_018296.5	NP_060766.5	Q1X8D7	LRC36_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0669)|Epithelial(162;0.161)	5	588	+		Ovarian(137;0.192)	190					A4FTV6|A6NDE9|A8K8E6|Q7Z5K5	Missense_Mutation	SNP	ENST00000329956.6	37	c.569T>C	CCDS32467.1	.	.	.	.	.	.	.	.	.	.	T	13.69	2.313554	0.40996	.	.	ENSG00000159708	ENST00000329956;ENST00000435835	T;T	0.34667	3.16;1.35	5.51	3.27	0.37495	.	0.744519	0.13074	N	0.415893	T	0.19886	0.0478	N	0.22421	0.69	0.80722	D	1	B;B;B	0.30281	0.275;0.002;0.001	B;B;B	0.28232	0.087;0.005;0.003	T	0.03673	-1.1014	10	0.08179	T	0.78	0.115	7.0519	0.25077	0.0:0.1798:0.0:0.8202	.	69;69;190	B7Z7B3;Q1X8D7-2;Q1X8D7	.;.;LRC36_HUMAN	T	190;69	ENSP00000329943:I190T;ENSP00000411122:I69T	ENSP00000329943:I190T	I	+	2	0	LRRC36	65941686	0.818000	0.29161	0.724000	0.30704	0.928000	0.56348	-0.116000	0.10724	0.391000	0.25143	0.459000	0.35465	ATT		0.378	LRRC36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421770.1	NM_018296		14	77	0	0	0	1	0	14	77					C	67384185	T	C	67384185	3	2	395	1	0	0	0	0	1	0	0	0	8990	1493	52	4	615	4	LRRC36	16	67384185	Missense_Mutation	SNP	T	TCGA-V1-A9ZG-01A-11D-A41K-08	62243668	67384185	22970568	24	19340											
ZFHX3	463	broad.mit.edu	37	chr16	72832434	72832434	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggcctcttggcatgcacttCattaaaatgcgtctgaaggg	10	11	11	9	1	3	1	1	1	2	0	3	1	3	1	1	3	2	2	1	3	3	3			TCGA-V1-A9ZG-01A-11D-A41K-08	TCGA-V1-A9ZG-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	463bc174-d782-4e0f-b8ab-e424b330c7f7	05454125-24ef-4c09-b1e9-71cd7a15a98e	g.chr16:72832434C>A	ENST00000268489.5	-	9	4819	c.4147G>T	c.(4147-4149)Gaa>Taa	p.E1383*	ZFHX3_ENST00000397992.5_Nonsense_Mutation_p.E469*	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	1383					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|muscle organ development (GO:0007517)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of myoblast differentiation (GO:0045663)|regulation of neuron differentiation (GO:0045664)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	enzyme binding (GO:0019899)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				GCATGCACTTCATTAAAATGC	0.502																																						ENST00000268489.5																			0				NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153						c.(4147-4149)Gaa>Taa		zinc finger homeobox 3							116	104	108					16																	72832434		2198	4300	6498	SO:0001587	stop_gained	463				muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr16:72832434C>A	D10250	CCDS10908.1, CCDS54035.1	16q22.3	2012-03-09	2007-08-09	2007-08-09	ENSG00000140836	ENSG00000140836		"Zinc fingers, C2H2-type", "Homeoboxes / ZF class"	777	protein-coding gene	gene with protein product		104155	"AT-binding transcription factor 1"	ATBF1		1719379, 7592926	Standard	NM_006885		Approved	ZNF927	uc002fck.3	Q15911	OTTHUMG00000137599	ENST00000268489.5:c.4147G>T	16.37:g.72832434C>A	ENSP00000268489:p.Glu1383*					ZFHX3_ENST00000397992.5_Nonsense_Mutation_p.E469*	p.E1383*	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN			9	4819	-		Ovarian(137;0.13)	1383					D3DWS8|O15101|Q13719	Nonsense_Mutation	SNP	ENST00000268489.5	37	c.4147G>T	CCDS10908.1	.	.	.	.	.	.	.	.	.	.	C	47	13.769619	0.99762	.	.	ENSG00000140836	ENST00000268489;ENST00000397992	.	.	.	5.94	5.94	0.96194	.	0.000000	0.50627	D	0.000118	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	.	20.3633	0.98874	0.0:1.0:0.0:0.0	.	.	.	.	X	1383;469	.	ENSP00000268489:E1383X	E	-	1	0	ZFHX3	71389935	1.000000	0.71417	0.995000	0.50966	0.978000	0.69477	7.818000	0.86416	2.826000	0.97356	0.561000	0.74099	GAA		0.502	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269008.1	NM_006885		18	33	1	0	5.03518e-11	1	5.28694e-11	18	33					A	72832434	C	A	72832434	4	1	395	1	0	0	0	0	0	1	0	0	17631	835	29	5	6972	5	ZFHX3	16	72832434	Nonsense_Mutation	SNP	C	TCGA-V1-A9ZG-01A-11D-A41K-08	5448249	72832434	17522319	25	19341											
ZFP3	124961	broad.mit.edu	37	chr17	4996197	4996197	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cagcattcccaacttatcatAcatcagagaattcacactgg	14	10	5	12	0	3	1	3	0	0	1	4	2	4	1	1	1	3	1	1	1	4	4			TCGA-V1-A9ZG-01A-11D-A41K-08	TCGA-V1-A9ZG-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	463bc174-d782-4e0f-b8ab-e424b330c7f7	05454125-24ef-4c09-b1e9-71cd7a15a98e	g.chr17:4996197A>G	ENST00000318833.3	+	2	1734	c.1398A>G	c.(1396-1398)atA>atG	p.I466M		NM_153018.2	NP_694563.1	Q96NJ6	ZFP3_HUMAN	ZFP3 zinc finger protein	466					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(3)|prostate(1)	20						AACTTATCATACATCAGAGAA	0.423																																						ENST00000318833.3																			0				NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(3)|prostate(1)	20						c.(1396-1398)atA>atG		ZFP3 zinc finger protein							72	73	73					17																	4996197		2203	4300	6503	SO:0001583	missense	124961				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr17:4996197A>G	BX647638	CCDS11067.1	17p13.2	2013-01-08	2012-11-27		ENSG00000180787	ENSG00000180787		"Zinc fingers, C2H2-type"	12861	protein-coding gene	gene with protein product		194480	"zinc finger protein homologous to Zfp-3 in mouse", "zinc finger protein 3 homolog (mouse)"				Standard	NM_153018		Approved	FLJ30726, ZNF752	uc002gaq.3	Q96NJ6		ENST00000318833.3:c.1398A>G	17.37:g.4996197A>G	ENSP00000320347:p.Ile466Met						p.I466M	NM_153018.2	NP_694563.1	Q96NJ6	ZFP3_HUMAN			2	1734	+			466					A5PLL4	Missense_Mutation	SNP	ENST00000318833.3	37	c.1398A>G	CCDS11067.1	.	.	.	.	.	.	.	.	.	.	A	8.133	0.783564	0.16189	.	.	ENSG00000180787	ENST00000318833	T	0.18016	2.24	4.01	-5.51	0.02568	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.39274	N	0.001401	T	0.13927	0.0337	L	0.28504	0.86	0.20196	N	0.999924	P	0.51147	0.942	P	0.50490	0.642	T	0.11299	-1.0593	10	0.48119	T	0.1	-11.2091	10.2871	0.43573	0.1569:0.6348:0.0:0.2083	.	466	Q96NJ6	ZFP3_HUMAN	M	466	ENSP00000320347:I466M	ENSP00000320347:I466M	I	+	3	3	ZFP3	4936921	0.000000	0.05858	0.088000	0.20740	0.998000	0.95712	-3.253000	0.00539	-1.080000	0.03109	0.528000	0.53228	ATA		0.423	ZFP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438979.1	NM_153018		10	48	0	0	0	1	0	10	48					G	4996197	A	G	4996197	3	3	395	1	0	0	0	0	1	0	0	0	17640	381	14	4	1400	4	ZFP3	17	4996197	Missense_Mutation	SNP	A	TCGA-V1-A9ZG-01A-11D-A41K-08		4996197	76199013	26	19342											
EIF5A	1984	broad.mit.edu	37	chr17	7214340	7214340	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgatgcatacatacaggtcCatctggttggtattgacatc	10	13	10	8	0	1	2	0	2	1	0	3	2	2	2	1	3	3	3	1	3	3	5			TCGA-V1-A9ZG-01A-11D-A41K-08	TCGA-V1-A9ZG-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	463bc174-d782-4e0f-b8ab-e424b330c7f7	05454125-24ef-4c09-b1e9-71cd7a15a98e	g.chr17:7214340C>T	ENST00000336458.8	+	3	570	c.169C>T	c.(169-171)Cat>Tat	p.H57Y	EIF5A_ENST00000572815.1_Missense_Mutation_p.H57Y|EIF5A_ENST00000419711.2_Missense_Mutation_p.H57Y|EIF5A_ENST00000336452.7_Missense_Mutation_p.H87Y|EIF5A_ENST00000573542.1_Missense_Mutation_p.H57Y|EIF5A_ENST00000416016.2_Missense_Mutation_p.H57Y|EIF5A_ENST00000571955.1_Missense_Mutation_p.H57Y|EIF5A_ENST00000576930.1_Missense_Mutation_p.H57Y	NM_001970.4	NP_001961.1	P63241	IF5A1_HUMAN	eukaryotic translation initiation factor 5A	57	DOHH-binding.				apoptotic process (GO:0006915)|cellular protein metabolic process (GO:0044267)|mRNA export from nucleus (GO:0006406)|nucleocytoplasmic transport (GO:0006913)|peptidyl-lysine modification to peptidyl-hypusine (GO:0008612)|positive regulation of cell proliferation (GO:0008284)|positive regulation of translational elongation (GO:0045901)|positive regulation of translational termination (GO:0045905)|post-translational protein modification (GO:0043687)|protein export from nucleus (GO:0006611)|translational frameshifting (GO:0006452)	annulate lamellae (GO:0005642)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|protein N-terminus binding (GO:0047485)|ribosome binding (GO:0043022)|RNA binding (GO:0003723)|translation elongation factor activity (GO:0003746)|U6 snRNA binding (GO:0017070)			endometrium(2)|kidney(1)|large_intestine(2)|urinary_tract(1)	6						CATACAGGTCCATCTGGTTGG	0.403																																						ENST00000336458.8																			0				endometrium(2)|kidney(1)|large_intestine(2)|urinary_tract(1)	6						c.(169-171)Cat>Tat		eukaryotic translation initiation factor 5A							106	88	94					17																	7214340		2203	4300	6503	SO:0001583	missense	1984				induction of apoptosis|mRNA export from nucleus|peptidyl-lysine modification to hypusine|positive regulation of cell proliferation|positive regulation of translational elongation|positive regulation of translational termination|post-translational protein modification|protein export from nucleus|translational frameshifting|transmembrane transport	annulate lamellae|cytosol|endoplasmic reticulum membrane|nuclear pore	protein N-terminus binding|ribosome binding|translation elongation factor activity|U6 snRNA binding	g.chr17:7214340C>T		CCDS11099.1, CCDS45601.1	17p13-p12	2009-05-01			ENSG00000132507	ENSG00000132507			3300	protein-coding gene	gene with protein product		600187				7759117	Standard	NM_001143760		Approved	EIF5A1, EIF-5A, MGC99547, MGC104255	uc002gfr.3	P63241	OTTHUMG00000102197	ENST00000336458.8:c.169C>T	17.37:g.7214340C>T	ENSP00000336776:p.His57Tyr					EIF5A_ENST00000571955.1_Missense_Mutation_p.H57Y|EIF5A_ENST00000416016.2_Missense_Mutation_p.H57Y|EIF5A_ENST00000572815.1_Missense_Mutation_p.H57Y|EIF5A_ENST00000419711.2_Missense_Mutation_p.H57Y|EIF5A_ENST00000576930.1_Missense_Mutation_p.H57Y|EIF5A_ENST00000573542.1_Missense_Mutation_p.H57Y|EIF5A_ENST00000336452.7_Missense_Mutation_p.H87Y	p.H57Y	NM_001970.4	NP_001961.1	P63241	IF5A1_HUMAN			3	570	+			57			DOHH-binding.		A8K9A0|D3DTP2|P10159|Q16182|Q7L7L3|Q7Z4L1|Q9D0G2	Missense_Mutation	SNP	ENST00000336458.8	37	c.169C>T	CCDS11099.1	.	.	.	.	.	.	.	.	.	.	C	16.91	3.252498	0.59212	.	.	ENSG00000132507	ENST00000336452;ENST00000336458;ENST00000419711;ENST00000416016	T;T;T;T	0.51574	0.7;0.74;0.74;0.74	4.34	4.34	0.51931	KOW (1);Translation protein SH3-like (1);Translation protein SH3-like, subgroup (1);	0.000000	0.85682	D	0.000000	T	0.55529	0.1926	M	0.83384	2.64	0.80722	D	1	B;B	0.20368	0.027;0.044	B;B	0.27170	0.077;0.045	T	0.61773	-0.6994	10	0.62326	D	0.03	0.4019	16.116	0.81304	0.0:1.0:0.0:0.0	.	57;87	P63241;P63241-2	IF5A1_HUMAN;.	Y	87;57;57;57	ENSP00000336702:H87Y;ENSP00000336776:H57Y;ENSP00000390677:H57Y;ENSP00000396073:H57Y	ENSP00000336702:H87Y	H	+	1	0	EIF5A	7155064	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	7.017000	0.76399	2.424000	0.82194	0.561000	0.74099	CAT		0.403	EIF5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000220047.3	NM_001970		9	74	0	0	0	1	0	9	74					T	7214340	C	T	7214340	3	4	395	1	0	0	0	0	1	0	0	0	5041	594	21	3	269	3	EIF5A	17	7214340	Missense_Mutation	SNP	C	TCGA-V1-A9ZG-01A-11D-A41K-08	2218143	7214340	73980870	27	19343											
ZNF750	79755	broad.mit.edu	37	chr17	80789374	80789374	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gactctggcctgtaaaatccGtaaggaatcggcaggttaga	12	9	12	8	2	1	1	0	0	1	1	3	3	2	2	2	4	0	4	2	4	5	3	rs141585758		TCGA-V1-A9ZG-01A-11D-A41K-08	TCGA-V1-A9ZG-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	463bc174-d782-4e0f-b8ab-e424b330c7f7	05454125-24ef-4c09-b1e9-71cd7a15a98e	g.chr17:80789374G>A	ENST00000269394.3	-	2	1790	c.957C>T	c.(955-957)taC>taT	p.Y319Y	TBCD_ENST00000539345.2_Intron|ZNF750_ENST00000572562.1_Intron|TBCD_ENST00000397466.2_Intron|TBCD_ENST00000355528.4_Intron	NM_024702.2	NP_078978.2	Q32MQ0	ZN750_HUMAN	zinc finger protein 750	319					cell differentiation (GO:0030154)|epidermis development (GO:0008544)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(3)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	31	Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0514)|all_epithelial(8;0.0748)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.149)			TGTAAAATCCGTAAGGAATCG	0.537																																						ENST00000269394.3																			0				NS(3)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	31						c.(955-957)taC>taT		zinc finger protein 750		G	,	2,4404	4.2+/-10.8	0,2,2201	163	177	172		,957	-9.8	0	17	dbSNP_134	172	0,8600		0,0,4300	no	intron,coding-synonymous	TBCD,ZNF750	NM_005993.4,NM_024702.2	,	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	,	,319/724	80789374	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	79755					intracellular	zinc ion binding	g.chr17:80789374G>A	AK023903	CCDS11819.1	17q25.3	2008-05-02				ENSG00000141579			25843	protein-coding gene	gene with protein product		610226				16751772	Standard	NM_024702		Approved	FLJ13841, Zfp750	uc002kga.3	Q32MQ0		ENST00000269394.3:c.957C>T	17.37:g.80789374G>A						ZNF750_ENST00000572562.1_Intron|TBCD_ENST00000397466.2_Intron|TBCD_ENST00000355528.4_Intron|TBCD_ENST00000539345.2_Intron	p.Y319Y	NM_024702.2	NP_078978.2	Q32MQ0	ZN750_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.149)		2	1790	-	Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0514)|all_epithelial(8;0.0748)	319					Q9H899	Silent	SNP	ENST00000269394.3	37	c.957C>T	CCDS11819.1																																																																																				0.537	ZNF750-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439074.2	NM_024702		4	175	0	0	0	1	0	4	175					A	80789374	G	A	80789374	2	1	395	1	0	0	0	0	0	0	0	1	18129	1140	40	1		1	ZNF750	17	80789374	Silent	SNP	G	TCGA-V1-A9ZG-01A-11D-A41K-08	73575034	80789374	405836	28	19344											
NETO1	81832	broad.mit.edu	37	chr18	70526134	70526134	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaaaaaatttaatccatagAaatcttccactggattttat	16	14	4	7	0	1	1	0	0	1	1	3	2	3	2	2	1	0	1	2	1	7	6			TCGA-V1-A9ZG-01A-11D-A41K-08	TCGA-V1-A9ZG-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	463bc174-d782-4e0f-b8ab-e424b330c7f7	05454125-24ef-4c09-b1e9-71cd7a15a98e	g.chr18:70526134A>T	ENST00000327305.6	-	4	1053	c.396T>A	c.(394-396)ttT>ttA	p.F132L	NETO1_ENST00000299430.2_Missense_Mutation_p.F131L|NETO1_ENST00000580049.1_5'UTR|NETO1_ENST00000397929.1_Missense_Mutation_p.F131L|NETO1_ENST00000583169.1_Missense_Mutation_p.F132L	NM_138966.3	NP_620416	Q8TDF5	NETO1_HUMAN	neuropilin (NRP) and tolloid (TLL)-like 1	132	CUB 1. {ECO:0000255|PROSITE- ProRule:PRU00059}.				memory (GO:0007613)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|receptor localization to synapse (GO:0097120)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|visual learning (GO:0008542)	cell junction (GO:0030054)|excitatory synapse (GO:0060076)|extracellular region (GO:0005576)|kainate selective glutamate receptor complex (GO:0032983)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)				NS(3)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(36)|ovary(2)|prostate(3)|skin(3)|stomach(1)	63		Esophageal squamous(42;0.129)		READ - Rectum adenocarcinoma(1;0.0487)		TAATCCATAGAAATCTTCCAC	0.348																																						ENST00000327305.6																			0				NS(3)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(36)|ovary(2)|prostate(3)|skin(3)|stomach(1)	63						c.(394-396)ttT>ttA		neuropilin (NRP) and tolloid (TLL)-like 1							69	73	71					18																	70526134		2203	4300	6503	SO:0001583	missense	81832				memory|regulation of long-term neuronal synaptic plasticity|visual learning	cell junction|excitatory synapse|extracellular region|integral to membrane|postsynaptic density|postsynaptic membrane	receptor activity	g.chr18:70526134A>T	AF448838	CCDS12000.1, CCDS42444.1	18q22.2	2008-08-01			ENSG00000166342	ENSG00000166342			13823	protein-coding gene	gene with protein product		607973				11943477, 12810072	Standard	NM_138999		Approved	BTCL1, BCTL1	uc002lkw.3	Q8TDF5	OTTHUMG00000132834	ENST00000327305.6:c.396T>A	18.37:g.70526134A>T	ENSP00000313088:p.Phe132Leu					NETO1_ENST00000583169.1_Missense_Mutation_p.F132L|NETO1_ENST00000397929.1_Missense_Mutation_p.F131L|NETO1_ENST00000299430.2_Missense_Mutation_p.F131L|NETO1_ENST00000580049.1_5'UTR	p.F132L	NM_138966.3	NP_620416.1	Q8TDF5	NETO1_HUMAN		READ - Rectum adenocarcinoma(1;0.0487)	4	1053	-		Esophageal squamous(42;0.129)	132			CUB 1.		Q86W85|Q8ND78|Q8TDF4	Missense_Mutation	SNP	ENST00000327305.6	37	c.396T>A	CCDS12000.1	.	.	.	.	.	.	.	.	.	.	A	16.79	3.220097	0.58560	.	.	ENSG00000166342	ENST00000327305;ENST00000299430;ENST00000397929	T;T;T	0.16743	2.32;2.32;2.32	5.08	2.4	0.29515	CUB (5);	0.000000	0.64402	D	0.000007	T	0.13030	0.0316	L	0.41356	1.27	0.48632	D	0.999688	P;B;B	0.41673	0.759;0.206;0.372	B;B;B	0.39935	0.186;0.124;0.314	T	0.03898	-1.0994	10	0.56958	D	0.05	0.3703	6.3678	0.21465	0.589:0.0:0.411:0.0	.	131;131;132	Q8TDF5-1;Q8TDF5-2;Q8TDF5	.;.;NETO1_HUMAN	L	132;131;131	ENSP00000313088:F132L;ENSP00000299430:F131L;ENSP00000381024:F131L	ENSP00000299430:F131L	F	-	3	2	NETO1	68677114	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.397000	0.34543	0.882000	0.36016	0.533000	0.62120	TTT		0.348	NETO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256301.2	NM_138999		21	72	0	0	0	1	0	21	72					T	70526134	A	T	70526134	3	4	395	1	0	0	0	0	1	0	0	0	10339	243	9	5	1242	5	NETO1	18	70526134	Missense_Mutation	SNP	A	TCGA-V1-A9ZG-01A-11D-A41K-08		70526134	7551114	29	19345											
TCF3	6929	broad.mit.edu	37	chr19	1611797	1611797	+	Frame_Shift_Del	DEL	T	T	-																															ctccaaccacacctgacaccTtttcctcttctcgccgtttc																										TCGA-V1-A9ZG-01A-11D-A41K-08	TCGA-V1-A9ZG-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	463bc174-d782-4e0f-b8ab-e424b330c7f7	05454125-24ef-4c09-b1e9-71cd7a15a98e	g.chr19:1611797delT	ENST00000262965.5	-	19	2218	c.1874delA	c.(1873-1875)aagfs	p.K625fs	TCF3_ENST00000344749.5_Frame_Shift_Del_p.K622fs|TCF3_ENST00000453954.2_Frame_Shift_Del_p.K537fs|TCF3_ENST00000395423.3_Frame_Shift_Del_p.K629fs|TCF3_ENST00000588136.1_Frame_Shift_Del_p.K622fs	NM_003200.3	NP_003191.1	Q9HCS4	TF7L1_HUMAN	transcription factor 3	0					anterior/posterior axis specification, embryo (GO:0008595)|axial mesoderm morphogenesis (GO:0048319)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|chromatin organization (GO:0006325)|generation of neurons (GO:0048699)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter during mitosis (GO:0046022)|regulation of stem cell maintenance (GO:2000036)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|regulation of Wnt signaling pathway (GO:0030111)|skin development (GO:0043588)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	16		Acute lymphoblastic leukemia(61;5.94e-12)|all_hematologic(61;1.27e-07)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		ACCTGACACCTTTTCCTCTTC	0.607			T	"PBX1, HLF, TFPT"	pre B-ALL																																	ENST00000262965.5				Dom	yes		19	19p13.3	6929	T	transcription factor 3 (E2A immunoglobulin enhancer binding factors E12/E47)			L	"PBX1, HLF, TFPT"		pre B-ALL		0				breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	16						c.(1873-1875)agfs		transcription factor 3							77	61	67					19																	1611797		2203	4300	6503	SO:0001589	frameshift_variant	6929				B cell lineage commitment|G1 phase of mitotic cell cycle|immunoglobulin V(D)J recombination|muscle cell differentiation|positive regulation of B cell proliferation|positive regulation of cell cycle|positive regulation of muscle cell differentiation|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus|protein complex|transcription factor complex	bHLH transcription factor binding|DNA binding|E-box binding|identical protein binding|mitogen-activated protein kinase kinase kinase binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|vitamin D response element binding	g.chr19:1611797delT	M65214	CCDS12074.1, CCDS45899.1	19p13.3	2014-02-13	2013-02-26		ENSG00000071564	ENSG00000071564		"Basic helix-loop-helix proteins"	11633	protein-coding gene	gene with protein product	"transcription factor E2-alpha", "immunoglobulin transcription factor 1", "kappa-E2-binding factor", "E2A immunoglobulin enhancer-binding factor E12/E47", "VDR interacting repressor"	147141				2308859, 1967983	Standard	NM_003200		Approved	E2A, ITF1, MGC129647, MGC129648, bHLHb21, VDIR, E47	uc002ltt.4	P15923	OTTHUMG00000180031	ENST00000262965.5:c.1874delA	19.37:g.1611797delT	ENSP00000262965:p.Lys625fs					TCF3_ENST00000588136.1_Frame_Shift_Del_p.K622fs|TCF3_ENST00000344749.5_Frame_Shift_Del_p.K622fs|TCF3_ENST00000453954.2_Frame_Shift_Del_p.K537fs|TCF3_ENST00000395423.3_Frame_Shift_Del_p.K629fs	p.K625fs	NM_003200.3	NP_003191.1	P15923	TFE2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	19	2218	-		Acute lymphoblastic leukemia(61;5.94e-12)|all_hematologic(61;1.27e-07)	625					Q53R97|Q6PD70|Q9NP00	Frame_Shift_Del	DEL	ENST00000262965.5	37	c.1874delA	CCDS12074.1																																																																																				0.607	TCF3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000449367.1	NM_003200		21	57						21	57	---	---	---	---	-	1611797	T	-	1611797	7	5	395	1	0	1	0	1	0	0	0	0	15691	1609	56	0	94	0	TCF3	19	1611797	Frame_Shift_Del	DEL	T	TCGA-V1-A9ZG-01A-11D-A41K-08		1611797	57517186	30	19346											
TPTE	7179	broad.mit.edu	37	chr21	10933879	10933879	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcctttacagtgaatcgctaCgatgttttcaagatcttgag	10	15	8	8	2	2	3	1	2	1	1	4	4	3	3	1	0	2	2	1	0	4	6	rs149228869		TCGA-V1-A9ZG-01A-11D-A41K-08	TCGA-V1-A9ZG-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	463bc174-d782-4e0f-b8ab-e424b330c7f7	05454125-24ef-4c09-b1e9-71cd7a15a98e	g.chr21:10933879C>T	ENST00000361285.4	-	17	1329	c.1000G>A	c.(1000-1002)Gta>Ata	p.V334I	TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000298232.7_Missense_Mutation_p.V316I|TPTE_ENST00000342420.5_Missense_Mutation_p.V296I	NM_199261.2	NP_954870	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	334	Phosphatase tensin-type. {ECO:0000255|PROSITE-ProRule:PRU00590}.				peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	ion channel activity (GO:0005216)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		TGAATCGCTACGATGTTTTCA	0.313																																						ENST00000298232.7																			0				NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130						c.(946-948)Gta>Ata		transmembrane phosphatase with tensin homology		C	ILE/VAL,ILE/VAL,ILE/VAL	4,4402		0,4,2199	244	243	243		946,886,1000	0.1	0	21	dbSNP_134	243	0,8600		0,0,4300	no	missense,missense,missense	TPTE	NM_199259.2,NM_199260.2,NM_199261.2	29,29,29	0,4,6499	TT,TC,CC		0.0,0.0908,0.0308	benign,benign,benign	316/534,296/514,334/552	10933879	4,13002	2203	4300	6503	SO:0001583	missense	7179				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr21:10933879C>T	AF007118	CCDS74771.1, CCDS74772.1, CCDS74773.1	21p11	2011-06-09			ENSG00000166157	ENSG00000274391		"Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"	12023	protein-coding gene	gene with protein product	"PTEN-related tyrosine phosphatase", "cancer/testis antigen 44"	604336				10830953, 14659893	Standard	NM_001290224		Approved	PTEN2, CT44	uc002yip.1	P56180	OTTHUMG00000074127	ENST00000361285.4:c.1000G>A	21.37:g.10933879C>T	ENSP00000355208:p.Val334Ile					TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000361285.4_Missense_Mutation_p.V334I|TPTE_ENST00000342420.5_Missense_Mutation_p.V296I	p.V316I	NM_199259.2	NP_954868.1	P56180	TPTE_HUMAN	Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	16	1313	-			334			Phosphatase tensin-type.		B2RAP7|C9J6D6|C9JKK8|Q6XPS4|Q6XPS5|Q71JA8|Q8NCS8	Missense_Mutation	SNP	ENST00000361285.4	37	c.946G>A	CCDS13560.2	.	.	.	.	.	.	.	.	.	.	.	0.010	-1.795271	0.00617	9.08E-4	0.0	ENSG00000166157	ENST00000298232;ENST00000361285;ENST00000342420	D;D;D	0.88975	-2.45;-2.45;-2.45	1.97	0.0501	0.14292	Phosphatase tensin type (1);Dual specificity phosphatase, catalytic domain (1);	0.112978	0.56097	N	0.000029	T	0.69260	0.3091	N	0.05124	-0.11	0.26216	N	0.979237	B;B;B	0.18013	0.02;0.02;0.025	B;B;B	0.20955	0.019;0.009;0.032	T	0.56450	-0.7977	10	0.10902	T	0.67	-10.4341	4.9844	0.14182	0.0:0.5035:0.0:0.4965	.	296;316;334	P56180-3;P56180-2;P56180	.;.;TPTE_HUMAN	I	316;334;296	ENSP00000298232:V316I;ENSP00000355208:V334I;ENSP00000344441:V296I	ENSP00000298232:V316I	V	-	1	0	TPTE	9955750	0.093000	0.21703	0.006000	0.13384	0.155000	0.21991	0.193000	0.17116	0.000000	0.14550	-1.111000	0.02071	GTA		0.313	TPTE-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000157413.1			19	280	0	0	0	1	0	19	280					T	10933879	C	T	10933879	3	4	395	1	0	0	0	0	1	0	0	0	16427	536	19	1	687	1	TPTE	21	10933879	Missense_Mutation	SNP	C	TCGA-V1-A9ZG-01A-11D-A41K-08		10933879	37196016	31	19347											
CPT1B	1375	broad.mit.edu	37	chr22	51009808	51009808	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggcggggctcctacccggAagtgagccagctgcagcgcg	7	4	17	13	4	0	1	0	1	0	0	1	3	1	2	3	4	5	3	3	4	2	1			TCGA-V1-A9ZG-01A-11D-A41K-08	TCGA-V1-A9ZG-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	463bc174-d782-4e0f-b8ab-e424b330c7f7	05454125-24ef-4c09-b1e9-71cd7a15a98e	g.chr22:51009808A>C	ENST00000360719.2	-	14	1873	c.1736T>G	c.(1735-1737)tTc>tGc	p.F579C	CPT1B_ENST00000434492.2_Missense_Mutation_p.F374C|CPT1B_ENST00000405237.3_Missense_Mutation_p.F579C|CPT1B_ENST00000457250.1_Missense_Mutation_p.F545C|CHKB-CPT1B_ENST00000453634.1_3'UTR|CPT1B_ENST00000440709.1_Missense_Mutation_p.F498C|CPT1B_ENST00000312108.7_Missense_Mutation_p.F579C|CPT1B_ENST00000395650.2_Missense_Mutation_p.F579C	NM_001145135.1|NM_152245.2	NP_001138607.1|NP_689451.1	Q92523	CPT1B_HUMAN	carnitine palmitoyltransferase 1B (muscle)	579					carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	carnitine O-palmitoyltransferase activity (GO:0004095)			central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		all cancers(3;3.56e-77)|OV - Ovarian serous cystadenocarcinoma(4;5.39e-74)|Epithelial(4;5.58e-70)|GBM - Glioblastoma multiforme(4;5.59e-08)|LUAD - Lung adenocarcinoma(64;0.0016)|Lung(4;0.00942)|BRCA - Breast invasive adenocarcinoma(115;0.207)		TCCTACCCGGAAGTGAGCCAG	0.602																																					Esophageal Squamous(170;988 1933 25577 30295 48163)	ENST00000360719.2																			0				central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						c.(1735-1737)tTc>tGc		carnitine palmitoyltransferase 1B (muscle)							65	60	62					22																	51009808		2203	4300	6503	SO:0001583	missense	1375				carnitine shuttle|fatty acid beta-oxidation|regulation of fatty acid oxidation	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity	g.chr22:51009808A>C	U62733	CCDS14098.1, CCDS46734.1	22q13.33	2007-07-26			ENSG00000205560	ENSG00000205560			2329	protein-coding gene	gene with protein product		601987				9070950	Standard	NM_152245		Approved	M-CPT1, CPT1-M	uc003bmm.3	Q92523	OTTHUMG00000137390	ENST00000360719.2:c.1736T>G	22.37:g.51009808A>C	ENSP00000353945:p.Phe579Cys					CPT1B_ENST00000440709.1_Missense_Mutation_p.F498C|CHKB-CPT1B_ENST00000453634.1_3'UTR|CPT1B_ENST00000457250.1_Missense_Mutation_p.F545C|CPT1B_ENST00000405237.3_Missense_Mutation_p.F579C|CPT1B_ENST00000434492.2_Missense_Mutation_p.F374C|CPT1B_ENST00000395650.2_Missense_Mutation_p.F579C|CPT1B_ENST00000312108.7_Missense_Mutation_p.F579C	p.F579C	NM_001145135.1|NM_152245.2	NP_001138607.1|NP_689451.1	Q92523	CPT1B_HUMAN		all cancers(3;3.56e-77)|OV - Ovarian serous cystadenocarcinoma(4;5.39e-74)|Epithelial(4;5.58e-70)|GBM - Glioblastoma multiforme(4;5.59e-08)|LUAD - Lung adenocarcinoma(64;0.0016)|Lung(4;0.00942)|BRCA - Breast invasive adenocarcinoma(115;0.207)	14	1873	-		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)	579					B7Z4U4|B7Z5T8|E9PCP2|Q13389|Q99655|Q9BY90	Missense_Mutation	SNP	ENST00000360719.2	37	c.1736T>G	CCDS14098.1	.	.	.	.	.	.	.	.	.	.	A	17.57	3.423582	0.62733	.	.	ENSG00000205560	ENST00000405237;ENST00000312108;ENST00000360719;ENST00000457250;ENST00000440709;ENST00000434492;ENST00000395650	D;D;D;D;D;D;D	0.91237	-2.81;-2.81;-2.81;-2.81;-2.81;-2.81;-2.81	5.31	5.31	0.75309	.	0.101651	0.64402	D	0.000001	D	0.95667	0.8591	M	0.92169	3.28	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;0.998;0.999	D;D;D;D	0.75484	0.979;0.986;0.976;0.981	D	0.95827	0.8855	10	0.87932	D	0	-32.5462	8.5639	0.33527	0.8286:0.0:0.0:0.1714	.	498;545;374;579	E9PCP2;B7Z4U4;A2RRE8;Q92523	.;.;.;CPT1B_HUMAN	C	579;579;579;545;498;374;579	ENSP00000385486:F579C;ENSP00000312189:F579C;ENSP00000353945:F579C;ENSP00000409342:F545C;ENSP00000414713:F498C;ENSP00000410966:F374C;ENSP00000379011:F579C	ENSP00000312189:F579C	F	-	2	0	CPT1B	49356674	1.000000	0.71417	1.000000	0.80357	0.873000	0.50193	2.950000	0.49081	2.234000	0.73211	0.459000	0.35465	TTC		0.602	CPT1B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317264.5	NM_152246		16	55	0	0	0	1	0	16	55					C	51009808	A	C	51009808	3	2	395	1	0	0	0	0	1	0	0	0	3832	246	9	5	606	5	CPT1B	22	51009808	Missense_Mutation	SNP	A	TCGA-V1-A9ZG-01A-11D-A41K-08		51009808	294758	32	19348											
USP9X	8239	broad.mit.edu	37	chrX	41075904	41075904	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtttacttaaaccctcctccCggtgagtatcaagagagttt	10	13	8	10	1	1	2	1	1	0	1	3	3	3	2	3	1	2	3	3	1	5	5	rs146661515		TCGA-V1-A9ZG-01A-11D-A41K-08	TCGA-V1-A9ZG-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	463bc174-d782-4e0f-b8ab-e424b330c7f7	05454125-24ef-4c09-b1e9-71cd7a15a98e	g.chrX:41075904C>T	ENST00000324545.8	+	35	6717	c.6084C>T	c.(6082-6084)ccC>ccT	p.P2028P	USP9X_ENST00000378308.2_Splice_Site_p.P2028P	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN	ubiquitin specific peptidase 9, X-linked	2028					axon extension (GO:0048675)|BMP signaling pathway (GO:0030509)|cerebellar cortex structural organization (GO:0021698)|chromosome segregation (GO:0007059)|female gamete generation (GO:0007292)|gene expression (GO:0010467)|hippocampus development (GO:0021766)|in utero embryonic development (GO:0001701)|mitotic nuclear division (GO:0007067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|post-embryonic development (GO:0009791)|protein deubiquitination (GO:0016579)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent protein catabolic process (GO:0006511)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)|membrane (GO:0016020)	co-SMAD binding (GO:0070410)|cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)|ubiquitin thiolesterase activity (GO:0004221)			NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						ACCCTCCTCCCGGTGAGTATC	0.323													C|||	4	0.0010596	0	0	3775	,	,		15887	0		0.004	False		,,,				2504	0				Ovarian(172;1807 2695 35459 49286)	ENST00000324545.7																			0				NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						c.e35+1		ubiquitin specific peptidase 9, X-linked		C	,	0,3343		0,0,0,1386,571	33	30	31		6084,6084	1.7	1	X	dbSNP_134	31	13,6502		0,10,3,2343,1806	yes	coding-synonymous-near-splice,coding-synonymous-near-splice	USP9X	NM_001039590.2,NM_001039591.2	,	0,10,3,3729,2377	TT,TC,T,CC,C		0.1995,0.0,0.1319	,	2028/2571,2028/2555	41075904	13,9845	1957	4162	6119	SO:0001630	splice_region_variant	8239				BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity	g.chrX:41075904C>T	X98296	CCDS43930.1, CCDS55403.1	Xp11.4	2010-08-03	2006-02-14		ENSG00000124486	ENSG00000124486		"Ubiquitin-specific peptidases"	12632	protein-coding gene	gene with protein product		300072	"ubiquitin specific protease 9, X chromosome (fat facets-like Drosophila)", "ubiquitin specific protease 9, X-linked (fat facets-like, Drosophila)", "ubiquitin specific peptidase 9, X-linked (fat facets-like, Drosophila)"			8922996	Standard	NM_001039590		Approved	DFFRX, FAF	uc004dfb.3	Q93008	OTTHUMG00000021367	ENST00000324545.8:c.6085+1C>T	X.37:g.41075904C>T						USP9X_ENST00000378308.2_Splice_Site_p.P2028_splice	p.P2028_splice	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN			35	6717	+			2028					O75550|Q8WWT3|Q8WX12	Splice_Site	SNP	ENST00000324545.8	37	c.6085_splice	CCDS43930.1																																																																																				0.323	USP9X-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000056250.4	NM_004652	Silent	9	15	0	0	0	1	0	9	15					T	41075904	C	T	41075904	5	4	395	1	0	0	0	0	0	0	1	0	17087	666	23	2	6218	2	USP9X	23	41075904	Splice_Site	SNP	C	TCGA-V1-A9ZG-01A-11D-A41K-08		41075904	114194656	33	19349											
MAOB	4129	broad.mit.edu	37	chrX	43652801	43652801	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	cttcatgcccagagtaggagGaatagcactaatcacatatt	14	10	8	9	0	2	1	2	0	0	1	2	3	2	3	1	2	2	2	1	2	5	6			TCGA-V1-A9ZG-01A-11D-A41K-08	TCGA-V1-A9ZG-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	463bc174-d782-4e0f-b8ab-e424b330c7f7	05454125-24ef-4c09-b1e9-71cd7a15a98e	g.chrX:43652801G>C	ENST00000378069.4	-	8	940	c.793C>G	c.(793-795)Cct>Gct	p.P265A	MAOB_ENST00000538942.1_Missense_Mutation_p.P249A|MAOB_ENST00000536181.1_Missense_Mutation_p.P249A	NM_000898.4	NP_000889.3	P27338	AOFB_HUMAN	monoamine oxidase B	265					negative regulation of serotonin secretion (GO:0014063)|positive regulation of dopamine metabolic process (GO:0045964)|response to aluminum ion (GO:0010044)|response to corticosterone (GO:0051412)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to toxic substance (GO:0009636)|small molecule metabolic process (GO:0044281)|substantia nigra development (GO:0021762)|xenobiotic metabolic process (GO:0006805)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitochondrial envelope (GO:0005740)|mitochondrial inner membrane (GO:0005743)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|primary amine oxidase activity (GO:0008131)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|prostate(2)|skin(5)	21					Amantadine(DB00915)|Amphetamine(DB00182)|Dopamine(DB00988)|Ephedra(DB01363)|Flavin adenine dinucleotide(DB03147)|Furazolidone(DB00614)|Isocarboxazid(DB01247)|Linezolid(DB00601)|Methamphetamine(DB01577)|Moclobemide(DB01171)|Nandrolone decanoate(DB08804)|Nicotine(DB00184)|Pargyline(DB01626)|Phenelzine(DB00780)|Phentermine(DB00191)|Procaine(DB00721)|Rasagiline(DB01367)|Selegiline(DB01037)|Sertraline(DB01104)|Tranylcypromine(DB00752)|Zonisamide(DB00909)	AGAGTAGGAGGAATAGCACTA	0.408																																						ENST00000378069.4																			0				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|prostate(2)|skin(5)	21						c.(793-795)Cct>Gct		monoamine oxidase B	Amantadine(DB00915)|Bupropion(DB01156)|Carbidopa(DB00190)|Citalopram(DB00215)|Dopamine(DB00988)|Entacapone(DB00494)|Furazolidone(DB00614)|Ginkgo biloba(DB01381)|Ibuprofen(DB01050)|Imipramine(DB00458)|Iproniazid(DB04818)|Isocarboxazid(DB01247)|Levodopa(DB01235)|Maprotiline(DB00934)|Meclizine(DB00737)|Moclobemide(DB01171)|Nicotine(DB00184)|Pargyline(DB01626)|Phenelzine(DB00780)|Phentermine(DB00191)|Rasagiline(DB01367)|Selegiline(DB01037)|Tranylcypromine(DB00752)						133	112	119					X																	43652801		2203	4300	6503	SO:0001583	missense	4129				xenobiotic metabolic process	integral to membrane|mitochondrial outer membrane	electron carrier activity|primary amine oxidase activity	g.chrX:43652801G>C		CCDS14261.1	Xp11.4-p11.3	2008-02-05			ENSG00000069535	ENSG00000069535	1.4.3.4		6834	protein-coding gene	gene with protein product		309860					Standard	NM_000898		Approved		uc004dfz.4	P27338	OTTHUMG00000021388	ENST00000378069.4:c.793C>G	X.37:g.43652801G>C	ENSP00000367309:p.Pro265Ala					MAOB_ENST00000538942.1_Missense_Mutation_p.P249A|MAOB_ENST00000536181.1_Missense_Mutation_p.P249A	p.P265A	NM_000898.4	NP_000889.3	P27338	AOFB_HUMAN			8	940	-			265					B2R6R3|B7Z5H3|D3DWC3|Q7Z6S2	Missense_Mutation	SNP	ENST00000378069.4	37	c.793C>G	CCDS14261.1	.	.	.	.	.	.	.	.	.	.	G	23.9	4.466050	0.84425	.	.	ENSG00000069535	ENST00000378069;ENST00000536181;ENST00000538942	D;D;D	0.96073	-3.9;-3.9;-3.9	5.97	5.97	0.96955	Amine oxidase (1);	0.000000	0.85682	D	0.000000	D	0.97766	0.9267	M	0.82630	2.6	0.80722	D	1	D;D	0.67145	0.993;0.996	P;D	0.65443	0.894;0.935	D	0.97994	1.0356	10	0.62326	D	0.03	-16.9599	19.371	0.94484	0.0:0.0:1.0:0.0	.	249;265	B7Z5H3;P27338	.;AOFB_HUMAN	A	265;249;249	ENSP00000367309:P265A;ENSP00000441613:P249A;ENSP00000442240:P249A	ENSP00000367309:P265A	P	-	1	0	MAOB	43537745	1.000000	0.71417	0.994000	0.49952	0.948000	0.59901	7.316000	0.79007	2.527000	0.85204	0.600000	0.82982	CCT		0.408	MAOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056303.1	NM_000898		12	15	0	0	0	1	0	12	15					C	43652801	G	C	43652801	3	2	395	1	0	0	0	0	1	0	0	0	9226	1174	41	5	801	5	MAOB	23	43652801	Missense_Mutation	SNP	G	TCGA-V1-A9ZG-01A-11D-A41K-08	2576897	43652801	111617759	34	19350											
C1orf94	84970	broad.mit.edu	37	chr1	34666535	34666537	+	In_Frame_Del	DEL	AGA	AGA	-																															gaaacctacatgtccagccgAgaagaacttgctctatgagt																										TCGA-V1-A9ZI-01A-11D-A41K-08	TCGA-V1-A9ZI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	462042a6-0a40-476a-9ccd-aa55722888da	6162f308-9e45-4bf7-a192-64a636bd36bd	g.chr1:34666535_34666537delAGA	ENST00000488417.1	+	3	1292_1294	c.1172_1174delAGA	c.(1171-1176)gagaag>gag	p.K392del	C1orf94_ENST00000373374.3_In_Frame_Del_p.K202del	NM_001134734.1	NP_001128206.1	Q6P1W5	CA094_HUMAN	chromosome 1 open reading frame 94	392										central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(15)|skin(4)|upper_aerodigestive_tract(2)	32		Myeloproliferative disorder(586;0.0393)				TGTCCAGCCGAGAAGAACTTGCT	0.586																																						ENST00000488417.1																			0				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(15)|skin(4)|upper_aerodigestive_tract(2)	32						c.(1171-1176)gag>g		chromosome 1 open reading frame 94																																				SO:0001651	inframe_deletion	84970						protein binding	g.chr1:34666535_34666537delAGA	AK123355	CCDS381.1, CCDS44108.1	1p34.3	2012-06-26			ENSG00000142698	ENSG00000142698			28250	protein-coding gene	gene with protein product						12477932	Standard	NM_001134734		Approved	MGC15882	uc001bxt.3	Q6P1W5	OTTHUMG00000004012	ENST00000488417.1:c.1172_1174delAGA	1.37:g.34666538_34666540delAGA	ENSP00000435634:p.Lys392del					C1orf94_ENST00000373374.3_In_Frame_Del_p.EK201del	p.EK391del	NM_001134734.1	NP_001128206.1	Q6P1W5	CA094_HUMAN			3	1292_1294	+		Myeloproliferative disorder(586;0.0393)	201					B3KVT1|D3DPR3|E9PJ76|Q96IC8	In_Frame_Del	DEL	ENST00000488417.1	37	c.1172_1174delAGA	CCDS44108.1																																																																																				0.586	C1orf94-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036845.2	NM_032884		10	6						10	6	---	---	---	---	-	34666537	AGA	-	34666535	7	5	396	1	0	1	0	1	0	0	0	0	2071	304	11	0	1182	0	C1orf94	1	34666535	In_Frame_Del	DEL	AGA	TCGA-V1-A9ZI-01A-11D-A41K-08		34666535	214584086	1	19351											
TOR1AIP1	26092	broad.mit.edu	37	chr1	179873145	179873145	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatatatagaatcattttggCagtcatcacaaagtaagtaa	18	12	6	5	0	3	1	3	0	0	1	3	1	3	1	0	1	0	3	0	1	8	7			TCGA-V1-A9ZI-01A-11D-A41K-08	TCGA-V1-A9ZI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	462042a6-0a40-476a-9ccd-aa55722888da	6162f308-9e45-4bf7-a192-64a636bd36bd	g.chr1:179873145C>T	ENST00000606911.2	+	6	975	c.784C>T	c.(784-786)Cag>Tag	p.Q262*	TOR1AIP1_ENST00000271583.3_Nonsense_Mutation_p.Q263*|TOR1AIP1_ENST00000474875.1_3'UTR|TOR1AIP1_ENST00000528443.2_Nonsense_Mutation_p.Q263*|TOR1AIP1_ENST00000435319.4_Nonsense_Mutation_p.Q141*			Q5JTV8	TOIP1_HUMAN	torsin A interacting protein 1	262					positive regulation of ATPase activity (GO:0032781)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	ATPase activator activity (GO:0001671)|ATPase binding (GO:0051117)|cytoskeletal protein binding (GO:0008092)			breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(4)|ovary(2)|skin(1)|urinary_tract(1)	18						ATCATTTTGGCAGTCATCACA	0.303																																						ENST00000435319.3																			0				breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(4)|ovary(2)|skin(1)|urinary_tract(1)	18						c.(784-786)Cag>Tag		torsin A interacting protein 1							117	110	112					1																	179873145		2203	4299	6502	SO:0001587	stop_gained	26092					integral to membrane|nuclear inner membrane		g.chr1:179873145C>T		CCDS1335.1, CCDS65737.1	1q24.2	2008-02-05			ENSG00000143337	ENSG00000143337			29456	protein-coding gene	gene with protein product	"lamina associated polypeptide 1B"	614512				12061773, 15767459	Standard	NM_015602		Approved	LAP1B, FLJ13142	uc001gnp.2	Q5JTV8	OTTHUMG00000035257	ENST00000606911.2:c.784C>T	1.37:g.179873145C>T	ENSP00000476687:p.Gln262*					TOR1AIP1_ENST00000474875.1_3'UTR|TOR1AIP1_ENST00000271583.3_Nonsense_Mutation_p.Q263*	p.Q262*	NM_001267578.1|NM_015602.3	NP_001254507.1|NP_056417.2	Q5JTV8	TOIP1_HUMAN			6	975	+			262					A8K630|B0QZ57|Q5JTV6|Q8IZ65|Q9H8Y6|Q9HAJ1|Q9NV52|Q9Y3X5	Nonsense_Mutation	SNP	ENST00000606911.2	37	c.784C>T	CCDS1335.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	38|38	6.970603|6.970603	0.97971|0.97971	.|.	.|.	ENSG00000143337|ENSG00000143337	ENST00000527391|ENST00000528443;ENST00000325993;ENST00000271583;ENST00000435319	.|.	.|.	.|.	4.21|4.21	1.1|1.1	0.20463|0.20463	.|.	.|1.087270	.|0.07101	.|N	.|0.840484	T|.	0.21801|.	0.0525|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.31194|.	-0.9952|.	3|.	.|.	.|.	.|.	-1.1156|-1.1156	1.8567|1.8567	0.03180|0.03180	0.2569:0.4457:0.1828:0.1146|0.2569:0.4457:0.1828:0.1146	.|.	.|.	.|.	.|.	V|X	138|263;262;263;262	.|.	.|.	A|Q	+|+	2|1	0|0	TOR1AIP1|TOR1AIP1	178139768|178139768	0.993000|0.993000	0.37304|0.37304	0.985000|0.985000	0.45067|0.45067	0.971000|0.971000	0.66376|0.66376	0.643000|0.643000	0.24750|0.24750	0.439000|0.439000	0.26476|0.26476	0.655000|0.655000	0.94253|0.94253	GCA|CAG		0.303	TOR1AIP1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000100313.4	NM_015602		3	37	0	0	0	1	0	3	37					T	179873145	C	T	179873145	4	4	396	1	0	0	0	0	0	1	0	0	16369	711	25	3	806	3	TOR1AIP1	1	179873145	Nonsense_Mutation	SNP	C	TCGA-V1-A9ZI-01A-11D-A41K-08	145206610	179873145	69377476	2	19352											
NLRC4	58484	broad.mit.edu	37	chr2	32476323	32476323	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	accctgggccctgctgagacGgaggaagaagacgaatttga	12	6	14	9	2	0	4	0	2	0	3	0	8	0	6	2	3	1	1	2	3	3	1	rs573520680		TCGA-V1-A9ZI-01A-11D-A41K-08	TCGA-V1-A9ZI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	462042a6-0a40-476a-9ccd-aa55722888da	6162f308-9e45-4bf7-a192-64a636bd36bd	g.chr2:32476323G>A	ENST00000404025.2	-	5	1098	c.610C>T	c.(610-612)Cgt>Tgt	p.R204C	NLRC4_ENST00000402280.1_Missense_Mutation_p.R204C|NLRC4_ENST00000360906.5_Missense_Mutation_p.R204C|NLRC4_ENST00000342905.6_Intron			Q9NPP4	NLRC4_HUMAN	NLR family, CARD domain containing 4	204	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.|Nucleotide-binding domain (NBD). {ECO:0000250}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of innate immune response (GO:0002218)|defense response to bacterium (GO:0042742)|detection of bacterium (GO:0016045)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-1 beta secretion (GO:0050702)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of apoptotic process (GO:0043065)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein homooligomerization (GO:0051260)|pyroptosis (GO:0070269)	cytosol (GO:0005829)|intracellular (GO:0005622)|IPAF inflammasome complex (GO:0072557)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|magnesium ion binding (GO:0000287)|protein homodimerization activity (GO:0042803)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(1)|ovary(3)|skin(2)|stomach(2)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					CTGCTGAGACGGAGGAAGAAG	0.527													G|||	1	0.000199681	0	0.0014	5008	,	,		19511	0		0	False		,,,				2504	0					ENST00000404025.2																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(1)|ovary(3)|skin(2)|stomach(2)	16						c.(610-612)Cgt>Tgt		NLR family, CARD domain containing 4							64	66	65					2																	32476323		2203	4300	6503	SO:0001583	missense	58484				activation of caspase activity|defense response to bacterium|detection of bacterium|interleukin-1 beta secretion|positive regulation of apoptosis	cytoplasm	ATP binding|magnesium ion binding|protein homodimerization activity	g.chr2:32476323G>A	AF376061	CCDS33174.1	2p22-p21	2008-08-27	2006-12-08	2006-12-08	ENSG00000091106	ENSG00000091106		"Nucleotide-binding domain and leucine rich repeat containing"	16412	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 4", "NOD-like receptor C4"	606831	"caspase recruitment domain family, member 12"	CARD12		11374873	Standard	NM_021209		Approved	CLAN1, ipaf, CLANA, CLANB, CLANC, CLAND, CLR2.1, CLAN	uc021vfq.1	Q9NPP4	OTTHUMG00000152107	ENST00000404025.2:c.610C>T	2.37:g.32476323G>A	ENSP00000385090:p.Arg204Cys					NLRC4_ENST00000402280.1_Missense_Mutation_p.R204C|NLRC4_ENST00000360906.5_Missense_Mutation_p.R204C|NLRC4_ENST00000342905.6_Intron	p.R204C			Q9NPP4	NLRC4_HUMAN			5	1098	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)		204			NACHT.		A8K9F8|B2RBQ3|B3KTF0|D6W580|Q96J81|Q96J82|Q96J83	Missense_Mutation	SNP	ENST00000404025.2	37	c.610C>T	CCDS33174.1	.	.	.	.	.	.	.	.	.	.	G	3.229	-0.157927	0.06544	.	.	ENSG00000091106	ENST00000360906;ENST00000402280;ENST00000404025	T;T;T	0.22336	1.96;1.96;1.96	3.27	2.27	0.28462	NACHT nucleoside triphosphatase (1);	0.483859	0.17223	N	0.182254	T	0.15176	0.0366	L	0.38175	1.15	0.29458	N	0.857974	B	0.15141	0.012	B	0.08055	0.003	T	0.07829	-1.0752	9	0.49607	T	0.09	-2.3375	7.9935	0.30254	0.0:0.0:0.553:0.447	.	204	Q9NPP4	NLRC4_HUMAN	C	204	ENSP00000354159:R204C;ENSP00000385428:R204C;ENSP00000385090:R204C	ENSP00000354159:R204C	R	-	1	0	NLRC4	32329827	0.460000	0.25776	0.040000	0.18447	0.078000	0.17371	1.257000	0.32932	1.836000	0.53414	0.543000	0.68304	CGT		0.527	NLRC4-001	KNOWN	non_canonical_other|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325222.2	NM_021209		5	76	0	0	0	1	0	5	76					A	32476323	G	A	32476323	3	1	396	1	0	0	0	0	1	0	0	0	10469	1116	39	2	2488	2	NLRC4	2	32476323	Missense_Mutation	SNP	G	TCGA-V1-A9ZI-01A-11D-A41K-08		32476323	210723050	3	19353											
TUBA4A	7277	broad.mit.edu	37	chr2	220115819	220115819	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cttcgttgtccaccatgaagGcacagtctgagtgctccagg	8	10	11	12	1	1	2	0	2	1	0	4	2	3	2	3	2	1	3	3	2	1	2			TCGA-V1-A9ZI-01A-11D-A41K-08	TCGA-V1-A9ZI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	462042a6-0a40-476a-9ccd-aa55722888da	6162f308-9e45-4bf7-a192-64a636bd36bd	g.chr2:220115819G>C	ENST00000248437.4	-	4	775	c.602C>G	c.(601-603)gCc>gGc	p.A201G	TUBA4A_ENST00000498660.1_5'UTR|TUBA4B_ENST00000490341.1_RNA|TUBA4A_ENST00000392088.2_Missense_Mutation_p.A186G	NM_006000.2	NP_005991.1	P68366	TBA4A_HUMAN	tubulin, alpha 4a	201					'de novo' posttranslational protein folding (GO:0051084)|blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based process (GO:0007017)|mitotic cell cycle (GO:0000278)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	20		Renal(207;0.0474)		Epithelial(149;1.16e-06)|all cancers(144;0.000191)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	Cabazitaxel(DB06772)|Podofilox(DB01179)|Vincristine(DB00541)	CACCATGAAGGCACAGTCTGA	0.552																																						ENST00000392088.2																			0				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	20						c.(556-558)gCc>gGc		tubulin, alpha 4a							113	111	112					2																	220115819		2203	4300	6503	SO:0001583	missense	7277				'de novo' posttranslational protein folding|G2/M transition of mitotic cell cycle|microtubule-based movement|platelet activation|platelet degranulation|protein polymerization	cytosol|extracellular region|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity	g.chr2:220115819G>C	AK054731	CCDS2438.1, CCDS63131.1	2q36.1	2012-10-02	2007-02-12	2007-02-12	ENSG00000127824	ENSG00000127824		"Tubulins"	12407	protein-coding gene	gene with protein product		191110	"tubulin, alpha 1 (testis specific)", "tubulin, alpha 1"	TUBA1		3785200	Standard	NM_006000		Approved	FLJ30169, H2-ALPHA	uc002vkt.1	P68366	OTTHUMG00000133126	ENST00000248437.4:c.602C>G	2.37:g.220115819G>C	ENSP00000248437:p.Ala201Gly					TUBA4A_ENST00000248437.4_Missense_Mutation_p.A201G|TUBA4A_ENST00000498660.1_5'UTR	p.A186G	NM_001278552.1	NP_001265481.1	P68366	TBA4A_HUMAN		Epithelial(149;1.16e-06)|all cancers(144;0.000191)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	4	1112	-		Renal(207;0.0474)	201					A8MUB1|B3KNQ6|P05215	Missense_Mutation	SNP	ENST00000248437.4	37	c.557C>G	CCDS2438.1	.	.	.	.	.	.	.	.	.	.	G	14.10	2.436052	0.43224	.	.	ENSG00000127824	ENST00000248437;ENST00000392088;ENST00000398989	T;T;T	0.70282	-0.47;-0.47;-0.47	5.44	5.44	0.79542	Tubulin/FtsZ, GTPase domain (4);	0.000000	0.85682	D	0.000000	T	0.81009	0.4734	M	0.93898	3.47	0.80722	D	1	B	0.09022	0.002	B	0.23275	0.045	T	0.80303	-0.1439	10	0.72032	D	0.01	.	19.4628	0.94924	0.0:0.0:1.0:0.0	.	201	P68366	TBA4A_HUMAN	G	201;186;48	ENSP00000248437:A201G;ENSP00000375938:A186G;ENSP00000396212:A48G	ENSP00000248437:A201G	A	-	2	0	TUBA4A	219824063	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.510000	0.98004	2.837000	0.97791	0.655000	0.94253	GCC		0.552	TUBA4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256816.3	NM_006000		19	100	0	0	0	1	0	19	100					C	220115819	G	C	220115819	3	2	396	1	0	0	0	0	1	0	0	0	16746	1203	42	5	748	5	TUBA4A	2	220115819	Missense_Mutation	SNP	G	TCGA-V1-A9ZI-01A-11D-A41K-08	187639496	220115819	23083554	4	19354											
ALPPL2	251	broad.mit.edu	37	chr2	233271622	233271622	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gacatgcaggggccctgggtGctgctcctgctgggcctgag	4	8	17	12	0	0	1	0	1	0	0	1	2	1	1	3	4	4	4	3	4	0	0	rs540080227		TCGA-V1-A9ZI-01A-11D-A41K-08	TCGA-V1-A9ZI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	462042a6-0a40-476a-9ccd-aa55722888da	6162f308-9e45-4bf7-a192-64a636bd36bd	g.chr2:233271622G>T	ENST00000295453.3	+	1	70	c.18G>T	c.(16-18)gtG>gtT	p.V6V		NM_031313.2	NP_112603.2	P10696	PPBN_HUMAN	alkaline phosphatase, placental-like 2	6					dephosphorylation (GO:0016311)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)	alkaline phosphatase activity (GO:0004035)|metal ion binding (GO:0046872)			breast(2)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(1)	13		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)	Amifostine(DB01143)	GGCCCTGGGTGCTGCTCCTGC	0.617																																						ENST00000295453.3																			0				breast(2)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(1)	13						c.(16-18)gtG>gtT		alkaline phosphatase, placental-like 2	Amifostine(DB01143)|Levamisole(DB00848)						75	79	78					2																	233271622		2203	4300	6503	SO:0001819	synonymous_variant	251				phosphorylation	anchored to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding	g.chr2:233271622G>T	J04948	CCDS2491.1	2q37	2008-05-20			ENSG00000163286	ENSG00000163286			441	protein-coding gene	gene with protein product		171810					Standard	NM_031313		Approved		uc002vss.4	P10696	OTTHUMG00000133257	ENST00000295453.3:c.18G>T	2.37:g.233271622G>T							p.V6V	NM_031313.2	NP_112603.2	P10696	PPBN_HUMAN		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)	1	70	+		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)	6					A8KAF2|Q16727|Q53S81|Q96CM1	Silent	SNP	ENST00000295453.3	37	c.18G>T	CCDS2491.1																																																																																				0.617	ALPPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257034.2	NM_031313		32	39	1	0	9.04072e-19	1	9.59423e-19	32	39					T	233271622	G	T	233271622	2	4	396	1	0	0	0	0	0	0	0	1	549	1306	46	5		5	ALPPL2	2	233271622	Silent	SNP	G	TCGA-V1-A9ZI-01A-11D-A41K-08	13155803	233271622	9927751	5	19355											
CELSR3	1951	broad.mit.edu	37	chr3	48697516	48697526	+	Frame_Shift_Del	DEL	GCATCTGTGAT	GCATCTGTGAT	-																															agaccggccgatgagtgttgGcatctgtgatgttgatgtgc																										TCGA-V1-A9ZI-01A-11D-A41K-08	TCGA-V1-A9ZI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	462042a6-0a40-476a-9ccd-aa55722888da	6162f308-9e45-4bf7-a192-64a636bd36bd	g.chr3:48697516_48697526delGCATCTGTGAT	ENST00000164024.4	-	1	2822_2832	c.2542_2552delATCACAGATGC	c.(2542-2553)atcacagatgccfs	p.ITDA848fs	CELSR3_ENST00000544264.1_Frame_Shift_Del_p.ITDA848fs	NM_001407.2	NP_001398.2	Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	848	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				axonal fasciculation (GO:0007413)|cilium assembly (GO:0042384)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of protein localization (GO:0032880)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		ATGAGTGTTGGCATCTGTGATGTTGATGTGC	0.507																																						ENST00000544264.1																			0				NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83						c.(2542-2553)cfs		cadherin, EGF LAG seven-pass G-type receptor 3																																				SO:0001589	frameshift_variant	1951				homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding	g.chr3:48697516_48697526delGCATCTGTGAT	AF231023	CCDS2775.1	3p21.31	2014-08-08	2013-02-18		ENSG00000008300	ENSG00000008300		"Cadherins / Major cadherins", "-", "GPCR / Class B : Orphans"	3230	protein-coding gene	gene with protein product	"flamingo homolog 1 (Drosophila)"	604264	"cadherin EGF LAG seven-pass G-type receptor 3, flamingo (Drosophila) homolog"	EGFL1		9693030	Standard	NM_001407		Approved	MEGF2, HFMI1, FMI1, CDHF11	uc003cuf.1	Q9NYQ7	OTTHUMG00000133544	ENST00000164024.4:c.2542_2552delATCACAGATGC	3.37:g.48697516_48697526delGCATCTGTGAT	ENSP00000164024:p.Ile848fs					CELSR3_ENST00000164024.4_Frame_Shift_Del_p.ITDA848fs	p.ITDA848fs			Q9NYQ7	CELR3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)	1	2822_2832	-			848			Cadherin 5.		O75092	Frame_Shift_Del	DEL	ENST00000164024.4	37	c.2542_2552delATCACAGATGC	CCDS2775.1																																																																																				0.507	CELSR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257523.1	NM_001407		28	79						28	79	---	---	---	---	-	48697526	GCATCTGTGAT	-	48697516	7	5	396	1	0	1	0	1	0	0	0	0	3223	1203	42	0	7526	0	CELSR3	3	48697516	Frame_Shift_Del	DEL	GCATCTGTGAT	TCGA-V1-A9ZI-01A-11D-A41K-08		48697516	149324914	6	19356											
IQCF2	389123	broad.mit.edu	37	chr3	51897229	51897229	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccagtctttggtccgtatgtGgcgtgtccgctggcgatact	4	13	13	11	4	1	0	0	0	1	0	3	1	3	0	3	3	1	2	3	3	2	3			TCGA-V1-A9ZI-01A-11D-A41K-08	TCGA-V1-A9ZI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	462042a6-0a40-476a-9ccd-aa55722888da	6162f308-9e45-4bf7-a192-64a636bd36bd	g.chr3:51897229G>A	ENST00000333127.3	+	3	367	c.338G>A	c.(337-339)tGg>tAg	p.W113*	IQCF2_ENST00000429548.1_3'UTR	NM_203424.1	NP_982248.1	Q8IXL9	IQCF2_HUMAN	IQ motif containing F2	113	IQ 2. {ECO:0000255|PROSITE- ProRule:PRU00116}.									endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	10				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		GTCCGTATGTGGCGTGTCCGC	0.597																																						ENST00000333127.3																			0				endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	10						c.(337-339)tGg>tAg		IQ motif containing F2							134	128	130					3																	51897229		2203	4300	6503	SO:0001587	stop_gained	389123							g.chr3:51897229G>A	AK128883	CCDS2835.1	3p21.31	2008-02-05			ENSG00000184345	ENSG00000184345			31815	protein-coding gene	gene with protein product							Standard	NM_203424		Approved		uc003dbt.1	Q8IXL9	OTTHUMG00000156914	ENST00000333127.3:c.338G>A	3.37:g.51897229G>A	ENSP00000329904:p.Trp113*					IQCF2_ENST00000429548.1_3'UTR	p.W113*	NM_203424.1	NP_982248.1	Q8IXL9	IQCF2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	3	367	+			113			IQ 2.			Nonsense_Mutation	SNP	ENST00000333127.3	37	c.338G>A	CCDS2835.1	.	.	.	.	.	.	.	.	.	.	G	19.18	3.777345	0.70107	.	.	ENSG00000184345	ENST00000333127	.	.	.	5.1	5.1	0.69264	.	0.000000	0.52532	D	0.000068	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-10.2738	14.1993	0.65690	0.0:0.0:1.0:0.0	.	.	.	.	X	113	.	ENSP00000329904:W113X	W	+	2	0	IQCF2	51872269	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	4.517000	0.60503	2.802000	0.96397	0.561000	0.74099	TGG		0.597	IQCF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346594.1	NM_203424		22	33	0	0	0	1	0	22	33					A	51897229	G	A	51897229	4	1	396	1	0	0	0	0	0	1	0	0	7808	1357	47	3	348	3	IQCF2	3	51897229	Nonsense_Mutation	SNP	G	TCGA-V1-A9ZI-01A-11D-A41K-08	3199713	51897229	146125201	7	19357											
ACY1	95	broad.mit.edu	37	chr3	52022810	52022810	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ctctggagcctgagatcatgCctgctgccactgacaaccgc	8	8	10	15	1	2	2	1	2	1	1	2	4	2	3	4	1	5	1	4	1	1	0			TCGA-V1-A9ZI-01A-11D-A41K-08	TCGA-V1-A9ZI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	462042a6-0a40-476a-9ccd-aa55722888da	6162f308-9e45-4bf7-a192-64a636bd36bd	g.chr3:52022810C>T	ENST00000404366.2	+	14	1176	c.1030C>T	c.(1030-1032)Cct>Tct	p.P344S	ACY1_ENST00000476854.1_Missense_Mutation_p.P279S|ACY1_ENST00000494103.1_Missense_Mutation_p.P272S|ACY1_ENST00000476351.1_Missense_Mutation_p.P309S|ACY1_ENST00000458031.2_Missense_Mutation_p.P434S|ABHD14A-ACY1_ENST00000463937.1_Missense_Mutation_p.P445S	NM_000666.2|NM_001198895.1	NP_000657.1|NP_001185824.1	Q03154	ACY1_HUMAN	aminoacylase 1	344					cellular amino acid metabolic process (GO:0006520)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	aminoacylase activity (GO:0004046)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)			breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	11				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000534)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	Acetylcysteine(DB06151)|L-Aspartic Acid(DB00128)	TGAGATCATGCCTGCTGCCAC	0.557																																						ENST00000458031.2																			0				breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	11						c.(1300-1302)Cct>Tct		aminoacylase 1	L-Aspartic Acid(DB00128)						159	172	168					3																	52022810		2203	4300	6503	SO:0001583	missense	95				cellular amino acid metabolic process|proteolysis	cytosol	aminoacylase activity|metal ion binding|metallopeptidase activity	g.chr3:52022810C>T	L07548	CCDS2844.1, CCDS56261.1, CCDS56262.1, CCDS56263.1	3p21.2	2006-02-02			ENSG00000243989	ENSG00000243989	3.5.1.14		177	protein-coding gene	gene with protein product		104620				1707030, 6948533	Standard	NM_000666		Approved		uc003dcq.3	Q03154	OTTHUMG00000157815	ENST00000404366.2:c.1030C>T	3.37:g.52022810C>T	ENSP00000384296:p.Pro344Ser					ACY1_ENST00000494103.1_Missense_Mutation_p.P272S|ACY1_ENST00000476351.1_Missense_Mutation_p.P309S|ABHD14A-ACY1_ENST00000463937.1_Missense_Mutation_p.P445S|ACY1_ENST00000476854.1_Missense_Mutation_p.P279S|ACY1_ENST00000404366.2_Missense_Mutation_p.P344S	p.P434S			Q03154	ACY1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000534)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	16	1531	+			344					C9J6I6|C9J9D8|C9JWD4	Missense_Mutation	SNP	ENST00000404366.2	37	c.1300C>T	CCDS2844.1	.	.	.	.	.	.	.	.	.	.	C	14.80	2.644575	0.47258	.	.	ENSG00000114786;ENSG00000114786;ENSG00000114786;ENSG00000243989;ENSG00000243989;ENSG00000243989;ENSG00000243989	ENST00000458031;ENST00000463937;ENST00000232907;ENST00000476854;ENST00000476351;ENST00000494103;ENST00000404366	D;D;D;D;T;D	0.82433	-1.61;-1.61;-1.61;-1.61;0.78;-1.61	5.69	3.73	0.42828	.	0.052306	0.85682	N	0.000000	D	0.86973	0.6062	M	0.76170	2.325	0.80722	D	1	P;B	0.40534	0.72;0.345	P;B	0.50934	0.654;0.367	D	0.86241	0.1643	10	0.62326	D	0.03	-14.4207	11.9042	0.52701	0.0:0.847:0.0:0.153	.	434;344	B4DNW0;Q03154	.;ACY1_HUMAN	S	434;445;344;279;309;272;344	ENSP00000390557:P434S;ENSP00000420487:P445S;ENSP00000419262:P279S;ENSP00000417056:P309S;ENSP00000417618:P272S;ENSP00000384296:P344S	ENSP00000384296:P344S	P	+	1	0	ACY1;RP11-155D18.11	51997850	1.000000	0.71417	0.995000	0.50966	0.048000	0.14542	3.355000	0.52262	0.628000	0.30357	0.655000	0.94253	CCT		0.557	ACY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349657.1	NM_000666		85	141	0	0	0	1	0	85	141					T	52022810	C	T	52022810	3	4	396	1	0	0	0	0	1	0	0	0	226	739	26	3	1080	3	ACY1	3	52022810	Missense_Mutation	SNP	C	TCGA-V1-A9ZI-01A-11D-A41K-08	125581	52022810	145999620	8	19358											
CD200R1	131450	broad.mit.edu	37	chr3	112647723	112647723	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgggagacgtggcaggtcaCggtagacacattgtggacct	10	8	15	8	2	1	2	1	0	0	2	1	4	1	3	1	5	0	2	1	5	1	2			TCGA-V1-A9ZI-01A-11D-A41K-08	TCGA-V1-A9ZI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	462042a6-0a40-476a-9ccd-aa55722888da	6162f308-9e45-4bf7-a192-64a636bd36bd	g.chr3:112647723C>T	ENST00000471858.1	-	4	872	c.640G>A	c.(640-642)Gtg>Atg	p.V214M	CD200R1_ENST00000295863.4_Missense_Mutation_p.V192M|CD200R1_ENST00000308611.3_Missense_Mutation_p.V237M	NM_170780.2	NP_740750.1	Q8TD46	MO2R1_HUMAN	CD200 receptor 1	214	Ig-like C2-type.				regulation of immune response (GO:0050776)|viral process (GO:0016032)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	26						TGGCAGGTCACGGTAGACACA	0.443																																						ENST00000471858.1																			0				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	26						c.(640-642)Gtg>Atg		CD200 receptor 1							92	81	84					3																	112647723		2203	4300	6503	SO:0001583	missense	131450				interspecies interaction between organisms|regulation of immune response	extracellular region|integral to membrane|plasma membrane	receptor activity	g.chr3:112647723C>T	AK126349	CCDS2969.1, CCDS2970.1, CCDS46889.1, CCDS54623.1	3q13	2014-05-15	2004-08-31	2004-09-01	ENSG00000163606	ENSG00000163606		"Immunoglobulin superfamily / C2-set domain containing"	24235	protein-coding gene	gene with protein product		607546	"MOX2 receptor"	MOX2R		10981966, 11133863	Standard	NM_138806		Approved	OX2R, HCRTR2, CD200R	uc003dzj.1	Q8TD46	OTTHUMG00000159298	ENST00000471858.1:c.640G>A	3.37:g.112647723C>T	ENSP00000418928:p.Val214Met					CD200R1_ENST00000295863.4_Missense_Mutation_p.V192M|CD200R1_ENST00000308611.3_Missense_Mutation_p.V237M	p.V214M	NM_170780.2	NP_740750.1	Q8TD46	MO2R1_HUMAN			4	872	-			214			Ig-like C2-type.		B3KWZ9|E9PCM9|Q52LJ7|Q6IS95|Q6UW94|Q6WHB8|Q8TD44|Q8TD45|Q8TD52	Missense_Mutation	SNP	ENST00000471858.1	37	c.640G>A	CCDS2970.1	.	.	.	.	.	.	.	.	.	.	C	14.39	2.521296	0.44866	.	.	ENSG00000163606	ENST00000471858;ENST00000308611;ENST00000295863	T;T;T	0.45668	0.89;0.89;6.15	5.47	4.54	0.55810	CD80-like, immunoglobulin C2-set (1);Immunoglobulin-like (1);	0.380681	0.22475	N	0.059565	T	0.61085	0.2319	M	0.82056	2.57	0.47374	D	0.999402	D;D;D	0.89917	0.965;1.0;1.0	P;D;D	0.77004	0.56;0.989;0.988	T	0.63287	-0.6671	10	0.56958	D	0.05	.	6.975	0.24670	0.0:0.732:0.1769:0.0911	.	192;214;237	B4E2U2;Q8TD46;Q8TD46-4	.;MO2R1_HUMAN;.	M	214;237;192	ENSP00000418928:V214M;ENSP00000311035:V237M;ENSP00000295863:V192M	ENSP00000295863:V192M	V	-	1	0	CD200R1	114130413	0.005000	0.15991	0.946000	0.38457	0.877000	0.50540	0.367000	0.20382	2.559000	0.86315	0.655000	0.94253	GTG		0.443	CD200R1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354467.1	NM_138806		13	37	0	0	0	1	0	13	37					T	112647723	C	T	112647723	3	4	396	1	0	0	0	0	1	0	0	0	2981	536	19	1	353	1	CD200R1	3	112647723	Missense_Mutation	SNP	C	TCGA-V1-A9ZI-01A-11D-A41K-08	60624913	112647723	85374707	9	19359											
IL6ST	3572	broad.mit.edu	37	chr5	55264119	55264119	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtaccattcagattttaaaGtgaagtttgtctccaagtgt	11	15	8	7	1	2	2	1	1	1	1	3	2	2	2	2	0	1	2	2	0	5	5			TCGA-V1-A9ZI-01A-11D-A41K-08	TCGA-V1-A9ZI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	462042a6-0a40-476a-9ccd-aa55722888da	6162f308-9e45-4bf7-a192-64a636bd36bd	g.chr5:55264119G>C	ENST00000381298.2	-	5	788	c.476C>G	c.(475-477)aCt>aGt	p.T159S	IL6ST_ENST00000336909.5_Missense_Mutation_p.T159S|IL6ST_ENST00000522633.2_Missense_Mutation_p.T159S|IL6ST_ENST00000381294.3_Missense_Mutation_p.T159S|IL6ST_ENST00000381286.3_Intron|IL6ST_ENST00000381293.2_Intron|IL6ST_ENST00000502326.3_Missense_Mutation_p.T159S|IL6ST_ENST00000396816.1_Intron|IL6ST_ENST00000381287.4_Missense_Mutation_p.T159S|IL6ST_ENST00000577363.1_Intron|IL6ST_ENST00000536319.1_Missense_Mutation_p.T159S	NM_001190981.1|NM_002184.3|NM_175767.2	NP_001177910.1|NP_002175.2|NP_786943.1	P40189	IL6RB_HUMAN	interleukin 6 signal transducer	159	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				ciliary neurotrophic factor-mediated signaling pathway (GO:0070120)|cytokine-mediated signaling pathway (GO:0019221)|glycogen metabolic process (GO:0005977)|interleukin-27-mediated signaling pathway (GO:0070106)|interleukin-6-mediated signaling pathway (GO:0070102)|leukemia inhibitory factor signaling pathway (GO:0048861)|negative regulation of apoptotic process (GO:0043066)|negative regulation of interleukin-6-mediated signaling pathway (GO:0070104)|oncostatin-M-mediated signaling pathway (GO:0038165)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of adaptive immune response (GO:0002821)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|positive regulation of cell proliferation (GO:0008284)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of Notch signaling pathway (GO:0008593)|response to cytokine (GO:0034097)|viral process (GO:0016032)	ciliary neurotrophic factor receptor complex (GO:0070110)|dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|interleukin-6 receptor complex (GO:0005896)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|oncostatin-M receptor complex (GO:0005900)|plasma membrane (GO:0005886)	ciliary neurotrophic factor receptor activity (GO:0004897)|ciliary neurotrophic factor receptor binding (GO:0005127)|growth factor binding (GO:0019838)|interleukin-11 receptor activity (GO:0004921)|interleukin-27 receptor activity (GO:0045509)|protein homodimerization activity (GO:0042803)			breast(2)|endometrium(5)|kidney(5)|large_intestine(4)|liver(2)|lung(1)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	26		Lung NSC(810;8.69e-05)|Prostate(74;0.00308)|Breast(144;0.0544)|Ovarian(174;0.223)				AGATTTTAAAGTGAAGTTTGT	0.318			O		hepatocellular ca																																	ENST00000381298.2				Dom	yes		5	5q11	3572	O	"interleukin 6 signal transducer (gp130, oncostatin M receptor)"			E			hepatocellular ca		0				breast(2)|endometrium(5)|kidney(5)|large_intestine(4)|liver(2)|lung(1)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	26						c.(475-477)aCt>aGt		interleukin 6 signal transducer (gp130, oncostatin M receptor)							110	108	109					5																	55264119		2202	4300	6502	SO:0001583	missense	3572				interleukin-6-mediated signaling pathway|leukemia inhibitory factor signaling pathway|negative regulation of interleukin-6-mediated signaling pathway|positive regulation of anti-apoptosis|positive regulation of cardiac muscle hypertrophy|positive regulation of osteoblast differentiation|positive regulation of T cell proliferation|positive regulation of tyrosine phosphorylation of Stat1 protein|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation vascular endothelial growth factor production	ciliary neurotrophic factor receptor complex|extracellular region|extracellular space|interleukin-6 receptor complex|oncostatin-M receptor complex	ciliary neurotrophic factor receptor activity|ciliary neurotrophic factor receptor binding|growth factor binding|protein homodimerization activity	g.chr5:55264119G>C	M57230	CCDS3971.1, CCDS47209.1, CCDS54856.1	5q11.2	2014-04-04	2014-04-04		ENSG00000134352	ENSG00000134352		"Interleukins and interleukin receptors", "CD molecules", "Fibronectin type III domain containing"	6021	protein-coding gene	gene with protein product	"gp130, oncostatin M receptor"	600694	"interleukin 6 signal transducer (gp130, oncostatin M receptor)"			2261637	Standard	NM_002184		Approved	GP130, CD130	uc003jqq.3	P40189	OTTHUMG00000097043	ENST00000381298.2:c.476C>G	5.37:g.55264119G>C	ENSP00000370698:p.Thr159Ser					IL6ST_ENST00000396816.1_Intron|IL6ST_ENST00000381294.3_Missense_Mutation_p.T159S|IL6ST_ENST00000536319.1_Missense_Mutation_p.T159S|IL6ST_ENST00000381286.3_Intron|IL6ST_ENST00000577363.1_Intron|IL6ST_ENST00000381287.4_Missense_Mutation_p.T159S|IL6ST_ENST00000502326.3_Missense_Mutation_p.T159S|IL6ST_ENST00000522633.2_Missense_Mutation_p.T159S|IL6ST_ENST00000336909.5_Missense_Mutation_p.T159S|IL6ST_ENST00000381293.2_Intron	p.T159S	NM_001190981.1|NM_002184.3|NM_175767.2	NP_001177910.1|NP_002175.2|NP_786943.1	P40189	IL6RB_HUMAN			5	788	-		Lung NSC(810;8.69e-05)|Prostate(74;0.00308)|Breast(144;0.0544)|Ovarian(174;0.223)	159			Fibronectin type-III 1.		A0N0L4|Q5FC04|Q9UQ41	Missense_Mutation	SNP	ENST00000381298.2	37	c.476C>G	CCDS3971.1	.	.	.	.	.	.	.	.	.	.	G	15.89	2.967255	0.53507	.	.	ENSG00000134352	ENST00000381298;ENST00000336909;ENST00000381294;ENST00000381287;ENST00000536319;ENST00000522633;ENST00000542298	T;T;T;T;T;T	0.21734	1.99;1.99;1.99;1.99;1.99;1.99	5.76	4.88	0.63580	Interleukin-6 receptor alpha chain, binding (1);Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.447894	0.23908	N	0.043378	T	0.31389	0.0795	M	0.67700	2.07	0.80722	D	1	P;P;B	0.51351	0.477;0.944;0.338	B;P;B	0.48815	0.324;0.591;0.1	T	0.02751	-1.1115	10	0.72032	D	0.01	.	12.3006	0.54872	0.0705:0.1304:0.7992:0.0	.	159;159;159	Q5FC04;P40189-2;P40189	.;.;IL6RB_HUMAN	S	159	ENSP00000370698:T159S;ENSP00000338799:T159S;ENSP00000370694:T159S;ENSP00000370687:T159S;ENSP00000444456:T159S;ENSP00000435399:T159S	ENSP00000338799:T159S	T	-	2	0	IL6ST	55299876	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.405000	0.44548	2.880000	0.98712	0.650000	0.86243	ACT		0.318	IL6ST-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000214146.3	NM_002184		10	11	0	0	0	1	0	10	11					C	55264119	G	C	55264119	3	2	396	1	0	0	0	0	1	0	0	0	7703	1029	36	5	2332	5	IL6ST	5	55264119	Missense_Mutation	SNP	G	TCGA-V1-A9ZI-01A-11D-A41K-08		55264119	125651141	10	19360											
PCDHGA2	56113	broad.mit.edu	37	chr5	140720504	140720504	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acggccagccccctctctccGccactgtcacgctcaccgtg	5	7	8	21	4	3	0	2	0	1	0	5	0	4	0	6	1	1	1	6	1	0	0			TCGA-V1-A9ZI-01A-11D-A41K-08	TCGA-V1-A9ZI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	462042a6-0a40-476a-9ccd-aa55722888da	6162f308-9e45-4bf7-a192-64a636bd36bd	g.chr5:140720504G>A	ENST00000394576.2	+	1	1966	c.1966G>A	c.(1966-1968)Gcc>Acc	p.A656T	PCDHGA1_ENST00000517417.1_Intron	NM_018915.2	NP_061738.1	Q9Y5H1	PCDG2_HUMAN	protocadherin gamma subfamily A, 2	656	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.A656T(1)		breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCCTCTCTCCGCCACTGTCAC	0.701																																						ENST00000394576.2																			1	Substitution - Missense(1)	p.A656T(1)	large_intestine(1)	breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77						c.(1966-1968)Gcc>Acc									34	41	39					5																	140720504		2200	4295	6495	SO:0001583	missense	0							g.chr5:140720504G>A	AF152508	CCDS47289.1	5q31	2011-03-28			ENSG00000081853	ENSG00000081853		"Cadherins / Protocadherins : Clustered"	8700	other	protocadherin		606289				10380929	Standard	NM_018915		Approved	PCDH-GAMMA-A2		Q9Y5H1	OTTHUMG00000163679	ENST00000394576.2:c.1966G>A	5.37:g.140720504G>A	ENSP00000378077:p.Ala656Thr					PCDHGA1_ENST00000517417.1_Intron	p.A656T	NM_018915.2	NP_061738.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1966	+								Q52LL6|Q9Y5D5	Missense_Mutation	SNP	ENST00000394576.2	37	c.1966G>A	CCDS47289.1	.	.	.	.	.	.	.	.	.	.	.	11.41	1.630332	0.28978	.	.	ENSG00000081853	ENST00000394576	T	0.51071	0.72	5.14	4.27	0.50696	Cadherin (4);Cadherin-like (1);	0.000000	0.41097	U	0.000956	T	0.42291	0.1196	L	0.39326	1.205	0.28900	N	0.893339	P;P	0.45594	0.709;0.862	B;B	0.41466	0.261;0.358	T	0.44205	-0.9343	10	0.56958	D	0.05	.	15.2028	0.73153	0.0:0.0:0.8582:0.1418	.	656;656	Q9Y5H1-2;Q9Y5H1	.;PCDG2_HUMAN	T	656	ENSP00000378077:A656T	ENSP00000378077:A656T	A	+	1	0	PCDHGA2	140700688	0.417000	0.25432	0.783000	0.31826	0.012000	0.07955	1.220000	0.32491	1.310000	0.45006	0.485000	0.47835	GCC		0.701	PCDHGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374738.1	NM_018915		33	48	0	0	0	1	0	33	48					A	140720504	G	A	140720504	3	1	396	1	0	0	0	0	1	0	0	0	11554	1087	38	1	1968	1	PCDHGA2	5	140720504	Missense_Mutation	SNP	G	TCGA-V1-A9ZI-01A-11D-A41K-08	85456385	140720504	40194756	11	19361											
SH3RF2	153769	broad.mit.edu	37	chr5	145442111	145442111	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgtcccagcctgaagcagcGtccttgggcccagagatgac	8	6	13	14	2	0	3	0	2	0	1	2	4	2	3	4	1	3	1	4	1	1	1	rs201984076	byFrequency	TCGA-V1-A9ZI-01A-11D-A41K-08	TCGA-V1-A9ZI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	462042a6-0a40-476a-9ccd-aa55722888da	6162f308-9e45-4bf7-a192-64a636bd36bd	g.chr5:145442111G>A	ENST00000511217.1	+	9	2089	c.2037G>A	c.(2035-2037)gcG>gcA	p.A679A	SH3RF2_ENST00000511705.1_3'UTR|SH3RF2_ENST00000359120.4_Silent_p.A679A			Q8TEC5	SH3R2_HUMAN	SH3 domain containing ring finger 2	679					negative regulation of phosphatase activity (GO:0010923)|protein ubiquitination (GO:0016567)		ligase activity (GO:0016874)|phosphatase binding (GO:0019902)|protein phosphatase 1 binding (GO:0008157)|protein phosphatase inhibitor activity (GO:0004864)|zinc ion binding (GO:0008270)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1)	22			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CTGAAGCAGCGTCCTTGGGCC	0.597													G|||	3	0.000599042	0	0	5008	,	,		18271	0.001		0	False		,,,				2504	0.002					ENST00000511217.1																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1)	22						c.(2035-2037)gcG>gcA		SH3 domain containing ring finger 2							84	79	81					5																	145442111		2203	4300	6503	SO:0001819	synonymous_variant	153769						ligase activity|protein phosphatase 1 binding|zinc ion binding	g.chr5:145442111G>A	AL833297	CCDS4280.1	5q32	2013-01-09	2011-11-04	2011-11-04	ENSG00000156463	ENSG00000156463		"RING-type (C3HC4) zinc fingers", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	26299	protein-coding gene	gene with protein product	"heart protein phosphatase 1-binding protein", "POSH-eliminating RING protein"	613377	"protein phosphatase 1, regulatory subunit 39"	PPP1R39		22128169	Standard	NM_152550		Approved	FLJ23654, RNF158, Hepp1, POSHER	uc003lnt.3	Q8TEC5	OTTHUMG00000129685	ENST00000511217.1:c.2037G>A	5.37:g.145442111G>A						SH3RF2_ENST00000511705.1_3'UTR|SH3RF2_ENST00000359120.4_Silent_p.A679A	p.A679A			Q8TEC5	SH3R2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		9	2089	+			679					A8K961|Q08AM9|Q6GMR9|Q8N5S8|Q96LP8	Silent	SNP	ENST00000511217.1	37	c.2037G>A	CCDS4280.1																																																																																				0.597	SH3RF2-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372804.1	NM_152550		22	33	0	0	0	1	0	22	33					A	145442111	G	A	145442111	2	1	396	1	0	0	0	0	0	0	0	1	14259	1132	40	1		1	SH3RF2	5	145442111	Silent	SNP	G	TCGA-V1-A9ZI-01A-11D-A41K-08	4721607	145442111	35473149	12	19362											
CSF1R	1436	broad.mit.edu	37	chr5	149441301	149441301	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcaccaaactgcaggttgtTccgggggaactcccacttct	8	10	9	14	1	2	0	1	0	1	0	4	1	4	1	3	3	3	3	3	3	2	3			TCGA-V1-A9ZI-01A-11D-A41K-08	TCGA-V1-A9ZI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	462042a6-0a40-476a-9ccd-aa55722888da	6162f308-9e45-4bf7-a192-64a636bd36bd	g.chr5:149441301T>G	ENST00000286301.3	-	12	2029	c.1738A>C	c.(1738-1740)Aac>Cac	p.N580H	CSF1R_ENST00000515239.1_5'UTR	NM_005211.3	NP_005202.2	P07333	CSF1R_HUMAN	colony stimulating factor 1 receptor	580					cell proliferation (GO:0008283)|cell-cell junction maintenance (GO:0045217)|cellular response to cytokine stimulus (GO:0071345)|cellular response to macrophage colony-stimulating factor stimulus (GO:0036006)|cytokine-mediated signaling pathway (GO:0019221)|hemopoiesis (GO:0030097)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|macrophage differentiation (GO:0030225)|mammary gland duct morphogenesis (GO:0060603)|monocyte differentiation (GO:0030224)|multicellular organismal development (GO:0007275)|osteoclast differentiation (GO:0030316)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol metabolic process (GO:0046488)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell migration (GO:0030335)|positive regulation of cell motility (GO:2000147)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chemokine secretion (GO:0090197)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|protein autophosphorylation (GO:0046777)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of bone resorption (GO:0045124)|regulation of cell shape (GO:0008360)|ruffle organization (GO:0031529)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|cytokine binding (GO:0019955)|macrophage colony-stimulating factor receptor activity (GO:0005011)|protein homodimerization activity (GO:0042803)			NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(38)|kidney(2)|large_intestine(6)|liver(3)|lung(23)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	93			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		Imatinib(DB00619)|Sunitinib(DB01268)	TGCAGGTTGTTCCGGGGGAAC	0.577																																						ENST00000286301.3																			0				NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(38)|kidney(2)|large_intestine(6)|liver(3)|lung(23)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	93						c.(1738-1740)Aac>Cac		colony stimulating factor 1 receptor	Imatinib(DB00619)|Sunitinib(DB01268)						138	133	135					5																	149441301		2203	4300	6503	SO:0001583	missense	1436				cell proliferation|multicellular organismal development|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane|receptor complex	ATP binding|cytokine binding|macrophage colony-stimulating factor receptor activity|protein homodimerization activity	g.chr5:149441301T>G	U63963	CCDS4302.1	5q32	2013-01-11	2008-08-01		ENSG00000182578	ENSG00000182578		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	2433	protein-coding gene	gene with protein product		164770	"McDonough feline sarcoma viral (v-fms) oncogene homolog"	FMS		1611909	Standard	NM_005211		Approved	C-FMS, CSFR, CD115	uc003lrm.3	P07333	OTTHUMG00000130050	ENST00000286301.3:c.1738A>C	5.37:g.149441301T>G	ENSP00000286301:p.Asn580His					CSF1R_ENST00000515239.1_5'UTR	p.N580H	NM_005211.3	NP_005202.2	P07333	CSF1R_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		12	2029	-			580					B5A955|D3DQG2|Q6LDW5|Q6LDY4|Q86VW7	Missense_Mutation	SNP	ENST00000286301.3	37	c.1738A>C	CCDS4302.1	.	.	.	.	.	.	.	.	.	.	T	18.25	3.581859	0.65992	.	.	ENSG00000182578	ENST00000286301;ENST00000394307	D	0.89875	-2.58	4.41	4.41	0.53225	Protein kinase-like domain (1);	0.000000	0.53938	D	0.000051	D	0.93651	0.7972	M	0.78801	2.425	0.80722	D	1	P;D	0.89917	0.863;1.0	B;D	0.70016	0.416;0.967	D	0.94368	0.7593	10	0.72032	D	0.01	.	13.8112	0.63264	0.0:0.0:0.0:1.0	.	432;580	B4E2Y8;P07333	.;CSF1R_HUMAN	H	580;432	ENSP00000286301:N580H	ENSP00000286301:N580H	N	-	1	0	CSF1R	149421494	1.000000	0.71417	0.969000	0.41365	0.935000	0.57460	5.593000	0.67550	1.849000	0.53698	0.368000	0.22195	AAC		0.577	CSF1R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252329.2	NM_005211		8	53	0	0	0	1	0	8	53					G	149441301	T	G	149441301	3	3	396	1	0	0	0	0	1	0	0	0	3932	1783	62	5	1224	5	CSF1R	5	149441301	Missense_Mutation	SNP	T	TCGA-V1-A9ZI-01A-11D-A41K-08	3999190	149441301	31473959	13	19363											
AGER	177	broad.mit.edu	37	chr6	32150159	32150159	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gctggggggaaggggcaaggGcacaccctggtgggggaagg	8	3	23	7	0	0	0	0	0	0	0	0	2	0	2	1	10	0	3	1	10	3	0			TCGA-V1-A9ZI-01A-11D-A41K-08	TCGA-V1-A9ZI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	462042a6-0a40-476a-9ccd-aa55722888da	6162f308-9e45-4bf7-a192-64a636bd36bd	g.chr6:32150159G>A	ENST00000375076.4	-	8	930	c.829C>T	c.(829-831)Ccc>Tcc	p.P277S	AGER_ENST00000438221.2_Missense_Mutation_p.P293S|XXbac-BPG300A18.13_ENST00000559458.1_RNA|AGER_ENST00000375055.2_Missense_Mutation_p.P277S|AGER_ENST00000375065.5_3'UTR|AGER_ENST00000375069.3_Missense_Mutation_p.P176S|AGER_ENST00000375067.3_Intron|AGER_ENST00000375070.3_Missense_Mutation_p.P308S|RNF5_ENST00000427134.2_Intron	NM_001136.4|NM_001206929.1|NM_001206932.1	NP_001127.1|NP_001193858.1|NP_001193861.1	Q15109	RAGE_HUMAN	advanced glycosylation end product-specific receptor	277	Ig-like C2-type 2.				cell surface receptor signaling pathway (GO:0007166)|induction of positive chemotaxis (GO:0050930)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|neuron projection development (GO:0031175)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|response to wounding (GO:0009611)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)|receptor activity (GO:0004872)|S100 protein binding (GO:0044548)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|endometrium(1)|lung(5)|pancreas(2)	9						AGGGGCAAGGGCACACCCTGG	0.587																																						ENST00000375076.4																			0				breast(1)|endometrium(1)|lung(5)|pancreas(2)	9						c.(829-831)Ccc>Tcc		advanced glycosylation end product-specific receptor							51	57	55					6																	32150159		1508	2708	4216	SO:0001583	missense	177				cell surface receptor linked signaling pathway|inflammatory response|innate immune response|neuron projection development|positive regulation of NF-kappaB transcription factor activity	integral to plasma membrane	S100 alpha binding|transmembrane receptor activity	g.chr6:32150159G>A	M91211	CCDS4746.1, CCDS4747.1, CCDS56417.1, CCDS56418.1, CCDS75429.1	6p21.3	2013-01-29			ENSG00000204305	ENSG00000204305		"Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	320	protein-coding gene	gene with protein product		600214				7713518	Standard	NM_001136		Approved	RAGE	uc003oap.2	Q15109	OTTHUMG00000031120	ENST00000375076.4:c.829C>T	6.37:g.32150159G>A	ENSP00000364217:p.Pro277Ser					AGER_ENST00000375065.5_3'UTR|AGER_ENST00000375067.3_Intron|AGER_ENST00000375055.2_Missense_Mutation_p.P277S|AGER_ENST00000438221.2_Missense_Mutation_p.P293S|RNF5_ENST00000427134.2_Intron|AGER_ENST00000375069.3_Missense_Mutation_p.P176S|AGER_ENST00000375070.3_Missense_Mutation_p.P308S	p.P277S	NM_001136.4|NM_001206929.1|NM_001206932.1	NP_001127.1|NP_001193858.1|NP_001193861.1	Q15109	RAGE_HUMAN			8	930	-			277			Ig-like C2-type 2.		A2BFI7|A6NKF0|A7Y2U9|B0V176|Q15279|Q3L1R4|Q3L1R5|Q3L1R6|Q3L1R7|Q3L1R8|Q3L1S0|Q86SN1|Q9H2X7|Q9Y3R3|V5R6A3	Missense_Mutation	SNP	ENST00000375076.4	37	c.829C>T	CCDS4746.1	.	.	.	.	.	.	.	.	.	.	G	6.033	0.374427	0.11409	.	.	ENSG00000204305	ENST00000375055;ENST00000375076;ENST00000375070;ENST00000438221;ENST00000375069;ENST00000375059	T;T;T;T;T	0.12672	2.66;2.66;2.66;2.66;2.66	5.7	3.87	0.44632	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.678056	0.14240	N	0.332166	T	0.04952	0.0133	L	0.46819	1.47	0.20563	N	0.999883	B;B;B;B;B;B;B	0.33448	0.019;0.412;0.063;0.01;0.044;0.044;0.044	B;B;B;B;B;B;B	0.30316	0.05;0.114;0.023;0.018;0.026;0.057;0.04	T	0.26395	-1.0104	10	0.59425	D	0.04	-1.0193	9.7395	0.40409	0.0783:0.1415:0.7802:0.0	.	277;176;277;293;263;293;277	B5A980;A8MS87;Q15109-3;Q3L1R7;Q3L1R5;Q3L1R8;Q15109	.;.;.;.;.;.;RAGE_HUMAN	S	277;277;308;293;176;6	ENSP00000364195:P277S;ENSP00000364217:P277S;ENSP00000364211:P308S;ENSP00000387887:P293S;ENSP00000364210:P176S	ENSP00000364195:P277S	P	-	1	0	AGER	32258137	0.175000	0.23083	0.091000	0.20842	0.074000	0.17049	0.953000	0.29162	0.719000	0.32188	0.467000	0.42956	CCC		0.587	AGER-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076200.1	NM_001136		15	28	0	0	0	1	0	15	28					A	32150159	G	A	32150159	3	1	396	1	0	0	0	0	1	0	0	0	379	1203	42	3	401	3	AGER	6	32150159	Missense_Mutation	SNP	G	TCGA-V1-A9ZI-01A-11D-A41K-08		32150159	138964908	14	19364											
GRM4	2914	broad.mit.edu	37	chr6	34003558	34003558	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcattgaaggtctcgggcaCgccgcgtgtcttgatggcat	6	11	13	11	4	3	2	1	2	2	0	4	2	3	2	1	3	0	2	1	3	1	2			TCGA-V1-A9ZI-01A-11D-A41K-08	TCGA-V1-A9ZI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	462042a6-0a40-476a-9ccd-aa55722888da	6162f308-9e45-4bf7-a192-64a636bd36bd	g.chr6:34003558C>T	ENST00000538487.2	-	9	2772	c.2329G>A	c.(2329-2331)Gtg>Atg	p.V777M	GRM4_ENST00000374181.4_Missense_Mutation_p.V777M|GRM4_ENST00000609222.1_Missense_Mutation_p.V644M|GRM4_ENST00000545715.1_5'UTR|GRM4_ENST00000374177.3_Missense_Mutation_p.V661M|GRM4_ENST00000455714.2_Missense_Mutation_p.V637M|GRM4_ENST00000535756.1_Missense_Mutation_p.V644M|GRM4_ENST00000544773.2_Missense_Mutation_p.V608M	NM_000841.2|NM_001256811.1	NP_000832.1|NP_001243740.1	Q14833	GRM4_HUMAN	glutamate receptor, metabotropic 4	777					activation of MAPK activity (GO:0000187)|adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|learning (GO:0007612)|neurotransmitter secretion (GO:0007269)|positive regulation of MAPK cascade (GO:0043410)|regulation of neuron apoptotic process (GO:0043523)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)	cytoplasmic vesicle (GO:0031410)|dendritic shaft (GO:0043198)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|presynaptic active zone membrane (GO:0048787)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						GTCTCGGGCACGCCGCGTGTC	0.577																																						ENST00000374181.3																			0				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						c.(2329-2331)Gtg>Atg		glutamate receptor, metabotropic 4	L-Glutamic Acid(DB00142)						108	77	87					6																	34003558		2203	4300	6503	SO:0001583	missense	2914				activation of MAPK activity|inhibition of adenylate cyclase activity by metabotropic glutamate receptor signaling pathway|neuroprotection|neurotransmitter secretion|positive regulation of MAPKKK cascade	cytoplasmic vesicle|integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	g.chr6:34003558C>T	U92457	CCDS4787.1, CCDS59010.1, CCDS59011.1, CCDS59012.1, CCDS75432.1	6p21.3	2012-08-29			ENSG00000124493	ENSG00000124493		"GPCR / Class C : Glutamate receptors, metabotropic", "Glutamate receptors"	4596	protein-coding gene	gene with protein product		604100				8738157, 9473604	Standard	NM_000841		Approved	GPRC1D, mGlu4, MGLUR4	uc010jvh.4	Q14833	OTTHUMG00000014538	ENST00000538487.2:c.2329G>A	6.37:g.34003558C>T	ENSP00000440556:p.Val777Met					GRM4_ENST00000535756.1_Missense_Mutation_p.V644M|GRM4_ENST00000374177.3_Missense_Mutation_p.V661M|GRM4_ENST00000544773.1_Missense_Mutation_p.V608M|GRM4_ENST00000538487.1_Missense_Mutation_p.V777M|GRM4_ENST00000545715.1_Missense_Mutation_p.V469M|GRM4_ENST00000455714.2_Missense_Mutation_p.V637M	p.V777M	NM_001256810.1	NP_001243739.1	Q14833	GRM4_HUMAN			8	2498	-			777					B3KVL9|B7Z1T9|B7Z1U6|F5GXM5|Q5SZ84|Q6ZMQ2	Missense_Mutation	SNP	ENST00000538487.2	37	c.2329G>A	CCDS4787.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.017904	0.75275	.	.	ENSG00000124493	ENST00000374181;ENST00000374177;ENST00000545715;ENST00000535756;ENST00000544773;ENST00000538487;ENST00000455714	D;D;D;D;D;D;D	0.89485	-2.52;-2.52;-2.52;-2.52;-2.52;-2.52;-2.52	4.47	4.47	0.54385	GPCR, family 3, C-terminal (2);	0.000000	0.85682	D	0.000000	D	0.94578	0.8253	M	0.86343	2.81	0.80722	D	1	D;D;D;D;D	0.89917	0.999;0.999;1.0;1.0;1.0	D;D;D;D;D	0.87578	0.986;0.99;0.998;0.99;0.99	D	0.95467	0.8548	10	0.87932	D	0	.	17.3286	0.87257	0.0:1.0:0.0:0.0	.	730;608;637;777;644	B7ZLU9;B7Z1T9;F5GXM5;Q14833;B3KVL9	.;.;.;GRM4_HUMAN;.	M	777;661;469;644;608;777;637	ENSP00000363296:V777M;ENSP00000363292:V661M;ENSP00000445533:V469M;ENSP00000437925:V644M;ENSP00000437730:V608M;ENSP00000440556:V777M;ENSP00000398456:V637M	ENSP00000363292:V661M	V	-	1	0	GRM4	34111536	1.000000	0.71417	0.988000	0.46212	0.921000	0.55340	7.580000	0.82523	2.303000	0.77524	0.455000	0.32223	GTG		0.577	GRM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040213.2			7	18	0	0	0	1	0	7	18					T	34003558	C	T	34003558	3	4	396	1	0	0	0	0	1	0	0	0	6799	536	19	1	421	1	GRM4	6	34003558	Missense_Mutation	SNP	C	TCGA-V1-A9ZI-01A-11D-A41K-08	1853399	34003558	137111509	15	19365											
EYS	346007	broad.mit.edu	37	chr6	66115212	66115213	+	Frame_Shift_Ins	INS	-	-	A																															tgggcaaattcctcttttccINSaaaaaagcagagaaacacaa																								rs34676630		TCGA-V1-A9ZI-01A-11D-A41K-08	TCGA-V1-A9ZI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	462042a6-0a40-476a-9ccd-aa55722888da	6162f308-9e45-4bf7-a192-64a636bd36bd	g.chr6:66115212_66115213insA	ENST00000370621.3	-	6	1436_1437	c.910_911insT	c.(910-912)tggfs	p.W304fs	EYS_ENST00000393380.2_Frame_Shift_Ins_p.W304fs|EYS_ENST00000370618.3_Frame_Shift_Ins_p.W304fs|EYS_ENST00000342421.5_Frame_Shift_Ins_p.W304fs|EYS_ENST00000370616.2_Frame_Shift_Ins_p.W304fs|EYS_ENST00000503581.1_Frame_Shift_Ins_p.W304fs			Q5T1H1	EYS_HUMAN	eyes shut homolog (Drosophila)	304					detection of light stimulus involved in visual perception (GO:0050908)|skeletal muscle tissue regeneration (GO:0043403)	extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)	p.W304*(2)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						TCCTCTTTTCCAAAAAAGCAGA	0.371																																						ENST00000503581.1																			2	Substitution - Nonsense(2)	p.W304*(2)	lung(2)	breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						c.(910-912)gaafs		eyes shut homolog (Drosophila)																																				SO:0001589	frameshift_variant	346007				response to stimulus|visual perception	extracellular region	calcium ion binding	g.chr6:66115212_66115213insA		CCDS4967.1, CCDS47445.1, CCDS47446.1	6q12	2014-01-28	2008-10-20	2008-10-20	ENSG00000188107	ENSG00000188107			21555	protein-coding gene	gene with protein product		612424	"chromosome 6 open reading frame 180", "EGF-like-domain, multiple 11", "retinitis pigmentosa 25 (autosomal recessive)", "EGF-like-domain, multiple 10", "chromosome 6 open reading frame 178", "chromosome 6 open reading frame 179"	C6orf180, EGFL11, RP25, EGFL10, C6orf178, C6orf179		18836446, 18976725	Standard	NM_001142800		Approved	dJ1018A4.2, bA166P24.2, SPAM, bA307F22.3, dJ303F19.1, bA74E24.1	uc011dxu.1	Q5T1H1	OTTHUMG00000014971	ENST00000370621.3:c.911dupT	6.37:g.66115218_66115218dupA	ENSP00000359655:p.Trp304fs					EYS_ENST00000370621.3_Frame_Shift_Ins_p.E304fs|EYS_ENST00000393380.2_Frame_Shift_Ins_p.E304fs|EYS_ENST00000370616.2_Frame_Shift_Ins_p.E304fs|EYS_ENST00000370618.3_Frame_Shift_Ins_p.E304fs|EYS_ENST00000342421.5_Frame_Shift_Ins_p.E304fs	p.E304fs	NM_001142800.1	NP_001136272.1	Q5T1H1	EYS_HUMAN			6	1447_1448	-			304					A2RUR2|A8MVE7|B7TYK8|B7UUQ3|B7ZBE7|B7ZBE8|B7ZBR3|B9ZVD2|Q5SZM4|Q5T3C8|Q5T669|Q5TEL3|Q5TEL4|Q5VVG4|Q6UY05|Q9H557|Q9NQ15	Frame_Shift_Ins	INS	ENST00000370621.3	37	c.910_911insT																																																																																					0.371	EYS-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000351351.3	XM_294050		10	126						10	126	---	---	---	---	A	66115213	-	A	66115212	7	5	396	1	0	1	1	0	0	0	0	0	5332	595	21	0	8637	0	EYS	6	66115212	Frame_Shift_Ins	INS	-	TCGA-V1-A9ZI-01A-11D-A41K-08	32111654	66115212	104999855	16	19366											
MDN1	23195	broad.mit.edu	37	chr6	90482337	90482337	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtagaggttttgccagtccCggtctctcccaccagcaaca	8	9	10	14	1	1	1	0	0	1	1	4	1	3	1	4	3	3	3	4	3	2	3			TCGA-V1-A9ZI-01A-11D-A41K-08	TCGA-V1-A9ZI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	462042a6-0a40-476a-9ccd-aa55722888da	6162f308-9e45-4bf7-a192-64a636bd36bd	g.chr6:90482337C>T	ENST00000369393.3	-	14	2153	c.2038G>A	c.(2038-2040)Ggg>Agg	p.G680R	MDN1_ENST00000428876.1_Missense_Mutation_p.G680R			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	680					ATP catabolic process (GO:0006200)|protein complex assembly (GO:0006461)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|unfolded protein binding (GO:0051082)	p.G680W(1)		NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		TTGCCAGTCCCGGTCTCTCCC	0.498																																						ENST00000369393.3																			1	Substitution - Missense(1)	p.G680W(1)	lung(1)	NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218						c.(2038-2040)Ggg>Agg		MDN1, midasin homolog (yeast)							132	133	133					6																	90482337		2203	4300	6503	SO:0001583	missense	23195				protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding	g.chr6:90482337C>T	AF503925	CCDS5024.1	6q15	2014-01-28			ENSG00000112159	ENSG00000112159			18302	protein-coding gene	gene with protein product						9205841, 12102729	Standard	XM_005248699		Approved	KIAA0301	uc003pnn.1	Q9NU22	OTTHUMG00000015213	ENST00000369393.3:c.2038G>A	6.37:g.90482337C>T	ENSP00000358400:p.Gly680Arg					MDN1_ENST00000428876.1_Missense_Mutation_p.G680R	p.G680R			Q9NU22	MDN1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0193)	14	2153	-		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)	680					O15019|Q5T794	Missense_Mutation	SNP	ENST00000369393.3	37	c.2038G>A	CCDS5024.1	.	.	.	.	.	.	.	.	.	.	C	14.77	2.633419	0.47049	.	.	ENSG00000112159	ENST00000369393;ENST00000428876;ENST00000439638	D;D;D	0.96885	-4.16;-4.16;-4.16	5.65	5.65	0.86999	ATPase, AAA+ type, core (1);ATPase, dynein-related, AAA domain (1);	0.000000	0.85682	D	0.000000	D	0.99042	0.9672	H	0.97918	4.105	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.99153	1.0859	10	0.66056	D	0.02	.	19.7199	0.96137	0.0:1.0:0.0:0.0	.	607;680	Q5T795;Q9NU22	.;MDN1_HUMAN	R	680;680;607	ENSP00000358400:G680R;ENSP00000413970:G680R;ENSP00000409664:G607R	ENSP00000358400:G680R	G	-	1	0	MDN1	90539058	1.000000	0.71417	0.245000	0.24217	0.116000	0.19942	7.484000	0.81180	2.665000	0.90641	0.650000	0.86243	GGG		0.498	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041514.2			3	61	0	0	0	1	0	3	61					T	90482337	C	T	90482337	3	4	396	1	0	0	0	0	1	0	0	0	9415	652	23	2	15108	2	MDN1	6	90482337	Missense_Mutation	SNP	C	TCGA-V1-A9ZI-01A-11D-A41K-08	24367125	90482337	80632730	17	19367											
CSMD1	64478	broad.mit.edu	37	chr8	2857534	2857534	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcttgcaggcatatcctcaCggaagttcccacaagccgga	10	8	10	13	2	2	0	1	0	1	0	4	2	4	2	3	3	2	3	3	3	3	3			TCGA-V1-A9ZI-01A-11D-A41K-08	TCGA-V1-A9ZI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	462042a6-0a40-476a-9ccd-aa55722888da	6162f308-9e45-4bf7-a192-64a636bd36bd	g.chr8:2857534C>T	ENST00000520002.1	-	54	8707	c.8152G>A	c.(8152-8154)Gtg>Atg	p.V2718M	CSMD1_ENST00000542608.1_Missense_Mutation_p.V2659M|CSMD1_ENST00000400186.3_Missense_Mutation_p.V2660M|CSMD1_ENST00000537824.1_Missense_Mutation_p.V2717M|CSMD1_ENST00000602557.1_Missense_Mutation_p.V2718M|CSMD1_ENST00000602723.1_Missense_Mutation_p.V2660M			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	2718	Sushi 18. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		CATATCCTCACGGAAGTTCCC	0.507																																						ENST00000520002.1																			0				breast(20)|large_intestine(5)	25						c.(8152-8154)Gtg>Atg		CUB and Sushi multiple domains 1							164	161	162					8																	2857534		1960	4150	6110	SO:0001583	missense	64478					integral to membrane		g.chr8:2857534C>T			8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	14026	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 24"	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.8152G>A	8.37:g.2857534C>T	ENSP00000430733:p.Val2718Met					CSMD1_ENST00000602723.1_Missense_Mutation_p.V2660M|CSMD1_ENST00000400186.3_Missense_Mutation_p.V2660M|CSMD1_ENST00000602557.1_Missense_Mutation_p.V2718M|CSMD1_ENST00000542608.1_Missense_Mutation_p.V2659M|CSMD1_ENST00000537824.1_Missense_Mutation_p.V2717M	p.V2718M			Q96PZ7	CSMD1_HUMAN		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)	54	8707	-		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)	2718			Sushi 18.		Q0H0J5|Q96QU9|Q96RM4	Missense_Mutation	SNP	ENST00000520002.1	37	c.8152G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.2|20.2	3.957086|3.957086	0.73902|0.73902	.|.	.|.	ENSG00000183117|ENSG00000183117	ENST00000335551|ENST00000400186;ENST00000520002;ENST00000318252;ENST00000537824;ENST00000542608	.|T;T;T;T	.|0.67523	.|-0.27;-0.27;-0.27;-0.27	6.07|6.07	6.07|6.07	0.98685|0.98685	.|Complement control module (2);Sushi/SCR/CCP (3);	.|0.000000	.|0.64402	.|D	.|0.000002	T|T	0.80737|0.80737	0.4680|0.4680	L|L	0.58969|0.58969	1.84|1.84	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|1.0;1.0;1.0	.|D;D;D	.|0.91635	.|0.997;0.997;0.999	T|T	0.77164|0.77164	-0.2688|-0.2688	5|10	.|0.41790	.|T	.|0.15	.|.	20.6439|20.6439	0.99570|0.99570	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|2718;2718;2659	.|E5RIG2;Q96PZ7;F5H2I8	.|.;CSMD1_HUMAN;.	H|M	2134|2660;2718;2579;2717;2659	.|ENSP00000383047:V2660M;ENSP00000430733:V2718M;ENSP00000441462:V2717M;ENSP00000446243:V2659M	.|ENSP00000320445:V2579M	R|V	-|-	2|1	0|0	CSMD1|CSMD1	2844941|2844941	1.000000|1.000000	0.71417|0.71417	0.116000|0.116000	0.21606|0.21606	0.122000|0.122000	0.20287|0.20287	7.612000|7.612000	0.82975|0.82975	2.884000|2.884000	0.98904|0.98904	0.655000|0.655000	0.94253|0.94253	CGT|GTG		0.507	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000374500.2	NM_033225		43	27	0	0	0	1	0	43	27					T	2857534	C	T	2857534	3	4	396	1	0	0	0	0	1	0	0	0	3944	536	19	1	2617	1	CSMD1	8	2857534	Missense_Mutation	SNP	C	TCGA-V1-A9ZI-01A-11D-A41K-08		2857534	143506488	18	19368											
SNTG1	54212	broad.mit.edu	37	chr8	51503463	51503463	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aaaaaatcaacagaaactttCctgtaaaccagcaggtaaga	20	7	6	8	0	1	2	1	0	0	2	2	2	2	2	2	1	4	3	2	1	8	3			TCGA-V1-A9ZI-01A-11D-A41K-08	TCGA-V1-A9ZI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	462042a6-0a40-476a-9ccd-aa55722888da	6162f308-9e45-4bf7-a192-64a636bd36bd	g.chr8:51503463C>A	ENST00000522124.1	+	13	1496	c.835C>A	c.(835-837)Cct>Act	p.P279T	SNTG1_ENST00000276467.5_Missense_Mutation_p.P279T|SNTG1_ENST00000517473.1_Missense_Mutation_p.P279T|SNTG1_ENST00000518864.1_Missense_Mutation_p.P279T	NM_018967.2	NP_061840.1	Q9NSN8	SNTG1_HUMAN	syntrophin, gamma 1	279					cell communication (GO:0007154)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|ruffle membrane (GO:0032587)|syntrophin complex (GO:0016013)	protein C-terminus binding (GO:0008022)			NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(36)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	66		all_cancers(86;0.00754)|all_epithelial(80;9.76e-05)|Lung NSC(129;0.000865)|all_lung(136;0.00249)|Colorectal(162;0.22)				CAGAAACTTTCCTGTAAACCA	0.284																																						ENST00000522124.1																			0				NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(36)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	66						c.(835-837)Cct>Act		syntrophin, gamma 1							22	23	23					8																	51503463		2190	4267	6457	SO:0001583	missense	54212				cell communication	cytoplasm|cytoskeleton|nucleus|ruffle membrane|syntrophin complex	actin binding|protein C-terminus binding	g.chr8:51503463C>A	AJ003030	CCDS6147.1, CCDS75737.1	8q11-q12	2008-07-03				ENSG00000147481			13740	protein-coding gene	gene with protein product		608714				10747910	Standard	NM_018967		Approved	SYN4, G1SYN	uc003xqs.1	Q9NSN8		ENST00000522124.1:c.835C>A	8.37:g.51503463C>A	ENSP00000429842:p.Pro279Thr					SNTG1_ENST00000518864.1_Missense_Mutation_p.P279T|SNTG1_ENST00000517473.1_Missense_Mutation_p.P279T|SNTG1_ENST00000276467.5_Missense_Mutation_p.P279T	p.P279T	NM_018967.2	NP_061840.1	Q9NSN8	SNTG1_HUMAN			13	1496	+		all_cancers(86;0.00754)|all_epithelial(80;9.76e-05)|Lung NSC(129;0.000865)|all_lung(136;0.00249)|Colorectal(162;0.22)	279					Q2M3Q0|Q9NY98	Missense_Mutation	SNP	ENST00000522124.1	37	c.835C>A	CCDS6147.1	.	.	.	.	.	.	.	.	.	.	C	11.87	1.768123	0.31320	.	.	ENSG00000147481	ENST00000518864;ENST00000522124;ENST00000517473;ENST00000276467	T;T;T;T	0.29397	1.57;1.57;1.57;1.57	4.78	4.78	0.61160	.	0.163085	0.56097	D	0.000028	T	0.29158	0.0725	L	0.53249	1.67	0.51482	D	0.999927	P;B	0.36010	0.532;0.281	B;B	0.33620	0.167;0.083	T	0.07770	-1.0755	10	0.39692	T	0.17	.	13.3371	0.60524	0.0:1.0:0.0:0.0	.	279;279	Q9NSN8-2;Q9NSN8	.;SNTG1_HUMAN	T	279	ENSP00000429276:P279T;ENSP00000429842:P279T;ENSP00000431123:P279T;ENSP00000276467:P279T	ENSP00000276467:P279T	P	+	1	0	SNTG1	51666016	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	2.556000	0.45862	2.205000	0.71048	0.650000	0.86243	CCT		0.284	SNTG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377964.1			4	72	1	0	0.014758	1	0.014758	4	72					A	51503463	C	A	51503463	3	1	396	1	0	0	0	0	1	0	0	0	14874	855	30	5	877	5	SNTG1	8	51503463	Missense_Mutation	SNP	C	TCGA-V1-A9ZI-01A-11D-A41K-08	48645929	51503463	94860559	19	19369											
ST18	9705	broad.mit.edu	37	chr8	53044633	53044633	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gagggaggctccattgagagGattctccttctgtctcttgg	6	13	13	9	0	3	1	0	1	3	1	6	5	4	3	2	4	0	1	2	4	0	4			TCGA-V1-A9ZI-01A-11D-A41K-08	TCGA-V1-A9ZI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	462042a6-0a40-476a-9ccd-aa55722888da	6162f308-9e45-4bf7-a192-64a636bd36bd	g.chr8:53044633G>T	ENST00000276480.7	-	22	3234	c.2551C>A	c.(2551-2553)Cct>Act	p.P851T		NM_014682.2	NP_055497.1	O60284	ST18_HUMAN	suppression of tumorigenicity 18, zinc finger	851					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				CCATTGAGAGGATTCTCCTTC	0.498																																						ENST00000276480.7																			0				NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85						c.(2551-2553)Cct>Act		suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein)							137	120	126					8																	53044633		2203	4300	6503	SO:0001583	missense	9705					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:53044633G>T	AB011107	CCDS6149.1	8q11.23	2014-03-24	2014-03-24	2002-12-13	ENSG00000147488	ENSG00000147488		"Zinc fingers, C2HC-type containing"	18695	protein-coding gene	gene with protein product	"neural zinc finger transcription factor 3"		"zinc finger protein 387", "suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein)"	ZNF387		15489893	Standard	NM_014682		Approved	KIAA0535, ZC2HC10, NZF3	uc003xra.2	O60284	OTTHUMG00000164233	ENST00000276480.7:c.2551C>A	8.37:g.53044633G>T	ENSP00000276480:p.Pro851Thr						p.P851T	NM_014682.2	NP_055497.1	O60284	ST18_HUMAN			22	3234	-		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)	851					Q17RY1	Missense_Mutation	SNP	ENST00000276480.7	37	c.2551C>A	CCDS6149.1	.	.	.	.	.	.	.	.	.	.	G	12.35	1.912056	0.33721	.	.	ENSG00000147488	ENST00000276480	T	0.43294	0.95	5.37	5.37	0.77165	.	0.169854	0.53938	D	0.000048	T	0.30541	0.0768	L	0.28192	0.835	0.44477	D	0.99741	P	0.37688	0.605	B	0.36134	0.218	T	0.05533	-1.0879	10	0.25106	T	0.35	-5.8098	14.3386	0.66608	0.0:0.0:0.8518:0.1482	.	851	O60284	ST18_HUMAN	T	851	ENSP00000276480:P851T	ENSP00000276480:P851T	P	-	1	0	ST18	53207186	1.000000	0.71417	0.989000	0.46669	0.963000	0.63663	3.595000	0.54016	2.658000	0.90341	0.591000	0.81541	CCT		0.498	ST18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377867.1			10	114	1	0	0.000673444	1	0.000686649	10	114					T	53044633	G	T	53044633	3	4	396	1	0	0	0	0	1	0	0	0	15211	1174	41	5	612	5	ST18	8	53044633	Missense_Mutation	SNP	G	TCGA-V1-A9ZI-01A-11D-A41K-08	1541170	53044633	93319389	20	19370											
RP1	6101	broad.mit.edu	37	chr8	55538977	55538977	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	caagcagaagtggcatctggGtatttgagaggaatggcaaa	14	8	14	5	0	1	2	0	1	1	2	1	4	1	3	0	4	1	4	0	4	5	2			TCGA-V1-A9ZI-01A-11D-A41K-08	TCGA-V1-A9ZI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	462042a6-0a40-476a-9ccd-aa55722888da	6162f308-9e45-4bf7-a192-64a636bd36bd	g.chr8:55538977G>A	ENST00000220676.1	+	4	2683	c.2535G>A	c.(2533-2535)ggG>ggA	p.G845G		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	845					axoneme assembly (GO:0035082)|cellular response to light stimulus (GO:0071482)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|photoreceptor cell outer segment organization (GO:0035845)|phototransduction, visible light (GO:0007603)|retinal cone cell development (GO:0046549)|retinal rod cell development (GO:0046548)|visual perception (GO:0007601)	axoneme (GO:0005930)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)	microtubule binding (GO:0008017)			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			TGGCATCTGGGTATTTGAGAG	0.338																																					Colon(91;1014 1389 7634 14542 40420)	ENST00000220676.1																			0				NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169						c.(2533-2535)ggG>ggA		retinitis pigmentosa 1 (autosomal dominant)							43	46	45					8																	55538977		2203	4298	6501	SO:0001819	synonymous_variant	6101				axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding	g.chr8:55538977G>A	AF146592	CCDS6160.1	8q12.1	2013-01-08				ENSG00000104237			10263	protein-coding gene	gene with protein product		603937				1783394	Standard	NM_006269		Approved	DCDC4A	uc003xsd.1	P56715		ENST00000220676.1:c.2535G>A	8.37:g.55538977G>A							p.G845G	NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)		4	2683	+		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	845						Silent	SNP	ENST00000220676.1	37	c.2535G>A	CCDS6160.1																																																																																				0.338	RP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378532.2	NM_006269		23	109	0	0	0	1	0	23	109					A	55538977	G	A	55538977	2	1	396	1	0	0	0	0	0	0	0	1	13532	1248	44	3		3	RP1	8	55538977	Silent	SNP	G	TCGA-V1-A9ZI-01A-11D-A41K-08	2494344	55538977	90825045	21	19371											
COL22A1	169044	broad.mit.edu	37	chr8	139629181	139629181	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaccgggtgcaccagaatcGcctgtgtgtcccttgaagcc	7	8	13	13	2	0	2	0	1	0	1	2	3	1	3	5	2	2	1	5	2	2	1	rs373967661		TCGA-V1-A9ZI-01A-11D-A41K-08	TCGA-V1-A9ZI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	462042a6-0a40-476a-9ccd-aa55722888da	6162f308-9e45-4bf7-a192-64a636bd36bd	g.chr8:139629181G>A	ENST00000303045.6	-	54	4292	c.3846C>T	c.(3844-3846)ggC>ggT	p.G1282G	COL22A1_ENST00000435777.1_Silent_p.G1262G|COL22A1_ENST00000341807.4_5'UTR	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	1282	Collagen-like 12.|Gly-rich.|Pro-rich.				extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)		p.G1282G(1)		breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			CACCAGAATCGCCTGTGTGTC	0.587										HNSCC(7;0.00092)			G|||	1	0.000199681	0	0	5008	,	,		19342	0.001		0	False		,,,				2504	0					ENST00000303045.6																			1	Substitution - coding silent(1)	p.G1282G(1)	urinary_tract(1)	breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211						c.(3844-3846)ggC>ggT		collagen, type XXII, alpha 1							80	79	79					8																	139629181		2203	4300	6503	SO:0001819	synonymous_variant	169044				cell adhesion	collagen|cytoplasm	structural molecule activity	g.chr8:139629181G>A	AF406780	CCDS6376.1	8q24.3	2013-01-16			ENSG00000169436	ENSG00000169436		"Collagens"	22989	protein-coding gene	gene with protein product		610026					Standard	NM_152888		Approved		uc003yvd.3	Q8NFW1	OTTHUMG00000150035	ENST00000303045.6:c.3846C>T	8.37:g.139629181G>A		HNSCC(7;0.00092)				COL22A1_ENST00000341807.4_5'UTR|COL22A1_ENST00000435777.1_Silent_p.G1262G	p.G1282G	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0517)		54	4292	-	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		1282			Collagen-like 12.|Gly-rich.|Pro-rich.		B7ZMH0|C9K0G4|Q8IVT9	Silent	SNP	ENST00000303045.6	37	c.3846C>T	CCDS6376.1																																																																																				0.587	COL22A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000315905.2	XM_291257		5	148	0	0	0	1	0	5	148					A	139629181	G	A	139629181	2	1	396	1	0	0	0	0	0	0	0	1	3681	1074	38	1		1	COL22A1	8	139629181	Silent	SNP	G	TCGA-V1-A9ZI-01A-11D-A41K-08	84090204	139629181	6734841	22	19372											
GSDMD	79792	broad.mit.edu	37	chr8	144643207	144643207	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	catctgagccagaagaagacGgtcaccatcccctcaggcag	12	5	10	14	1	3	4	2	1	1	3	4	4	4	4	4	2	1	1	4	2	2	0	rs145648319		TCGA-V1-A9ZI-01A-11D-A41K-08	TCGA-V1-A9ZI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	462042a6-0a40-476a-9ccd-aa55722888da	6162f308-9e45-4bf7-a192-64a636bd36bd	g.chr8:144643207G>A	ENST00000526406.1	+	8	1498	c.615G>A	c.(613-615)acG>acA	p.T205T	GSDMD_ENST00000533063.1_Silent_p.T253T|GSDMD_ENST00000262580.4_Silent_p.T205T	NM_001166237.1	NP_001159709.1	P57764	GSDMD_HUMAN	gasdermin D	205					cellular response to extracellular stimulus (GO:0031668)					breast(1)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	12						AGAAGAAGACGGTCACCATCC	0.687													G|||	1	0.000199681	0	0	5008	,	,		12196	0		0.001	False		,,,				2504	0					ENST00000526406.1																			0				breast(1)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	12						c.(613-615)acG>acA		gasdermin D		G	,	0,4406		0,0,2203	68	57	61		615,615	-5.9	0	8	dbSNP_134	61	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous,coding-synonymous	GSDMD	NM_001166237.1,NM_024736.6	,	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	,	205/485,205/485	144643207	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	79792							g.chr8:144643207G>A	AK096216	CCDS34956.1	8q24.3	2008-07-31	2008-07-31	2008-07-31		ENSG00000104518			25697	protein-coding gene	gene with protein product			"gasdermin domain containing 1"	GSDMDC1		15289881, 17350798	Standard	NM_024736		Approved	FLJ12150, DF5L	uc003yyg.3	P57764		ENST00000526406.1:c.615G>A	8.37:g.144643207G>A						GSDMD_ENST00000262580.4_Silent_p.T205T|GSDMD_ENST00000533063.1_Silent_p.T253T	p.T205T	NM_001166237.1	NP_001159709.1	P57764	GSDMD_HUMAN			8	1498	+			205					D3DWJ9|Q96Q98	Silent	SNP	ENST00000526406.1	37	c.615G>A	CCDS34956.1																																																																																				0.687	GSDMD-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382046.3	NM_024736		4	108	0	0	0	1	0	4	108					A	144643207	G	A	144643207	2	1	396	1	0	0	0	0	0	0	0	1	6819	1103	39	2		2	GSDMD	8	144643207	Silent	SNP	G	TCGA-V1-A9ZI-01A-11D-A41K-08	5014026	144643207	1720815	23	19373											
NCBP1	4686	broad.mit.edu	37	chr9	100431229	100431229	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gaatctgctcagagtgaacaAaagaatcttttcctcgttat	13	13	7	8	1	3	3	1	1	2	2	5	4	4	3	1	0	2	2	1	0	6	3			TCGA-V1-A9ZI-01A-11D-A41K-08	TCGA-V1-A9ZI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	462042a6-0a40-476a-9ccd-aa55722888da	6162f308-9e45-4bf7-a192-64a636bd36bd	g.chr9:100431229A>G	ENST00000375147.3	+	21	2374	c.2118A>G	c.(2116-2118)caA>caG	p.Q706Q		NM_002486.4	NP_002477.1	Q09161	NCBP1_HUMAN	nuclear cap binding protein subunit 1, 80kDa	706					7-methylguanosine mRNA capping (GO:0006370)|gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|histone mRNA metabolic process (GO:0008334)|mRNA 3'-end processing (GO:0031124)|mRNA cis splicing, via spliceosome (GO:0045292)|mRNA cleavage (GO:0006379)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|mRNA splicing, via spliceosome (GO:0000398)|ncRNA metabolic process (GO:0034660)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|positive regulation of mRNA 3'-end processing (GO:0031442)|positive regulation of viral transcription (GO:0050434)|regulation of translational initiation (GO:0006446)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|spliceosomal snRNP assembly (GO:0000387)|termination of RNA polymerase II transcription (GO:0006369)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|mRNA cap binding complex (GO:0005845)|nuclear cap binding complex (GO:0005846)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|RNA cap binding (GO:0000339)			NS(1)|central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(4)	19		Acute lymphoblastic leukemia(62;0.158)				AGAGTGAACAAAAGAATCTTT	0.353																																					Ovarian(36;879 898 2893 44212 50307)	ENST00000375147.3																			0				NS(1)|central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(4)	19						c.(2116-2118)caA>caG		nuclear cap binding protein subunit 1, 80kDa							114	117	116					9																	100431229		2203	4300	6503	SO:0001819	synonymous_variant	4686				gene silencing by RNA|histone mRNA metabolic process|mRNA 3'-end processing|mRNA capping|mRNA cleavage|mRNA export from nucleus|ncRNA metabolic process|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of mRNA 3'-end processing|positive regulation of viral transcription|regulation of translational initiation|spliceosomal snRNP assembly|termination of RNA polymerase II transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	cytosol|mRNA cap binding complex|nucleoplasm|ribonucleoprotein complex	protein binding|RNA cap binding	g.chr9:100431229A>G	BC001450	CCDS6728.1	9q34.1	2010-01-26	2002-08-29		ENSG00000136937	ENSG00000136937			7658	protein-coding gene	gene with protein product		600469	"nuclear cap binding protein subunit 1, 80kD"	NCBP		7937105, 8812508	Standard	NM_002486		Approved	CBP80, Sto1	uc004axq.3	Q09161	OTTHUMG00000020332	ENST00000375147.3:c.2118A>G	9.37:g.100431229A>G							p.Q706Q	NM_002486.4	NP_002477.1	Q09161	NCBP1_HUMAN			21	2374	+		Acute lymphoblastic leukemia(62;0.158)	706					B2R718|Q59G76|Q5T1V0|Q5T7X2	Silent	SNP	ENST00000375147.3	37	c.2118A>G	CCDS6728.1																																																																																				0.353	NCBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053337.1	NM_002486		28	47	0	0	0	1	0	28	47					G	100431229	A	G	100431229	2	3	396	1	0	0	0	0	0	0	0	1	10211	11	1	4		4	NCBP1	9	100431229	Silent	SNP	A	TCGA-V1-A9ZI-01A-11D-A41K-08		100431229	40782202	24	19374											
MRGPRX2	117194	broad.mit.edu	37	chr11	19077106	19077106	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcttcctaaaagagcccaCgaagaagtaaatgatggggt	14	8	11	8	1	0	3	0	1	0	2	1	4	1	3	2	2	2	2	2	2	6	3			TCGA-V1-A9ZI-01A-11D-A41K-08	TCGA-V1-A9ZI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	462042a6-0a40-476a-9ccd-aa55722888da	6162f308-9e45-4bf7-a192-64a636bd36bd	g.chr11:19077106C>T	ENST00000329773.2	-	2	931	c.844G>A	c.(844-846)Gtg>Atg	p.V282M		NM_054030.2	NP_473371.1	Q96LB1	MRGX2_HUMAN	MAS-related GPR, member X2	282					positive regulation of cytokinesis (GO:0032467)|sensory perception of pain (GO:0019233)|sleep (GO:0030431)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|neuropeptide binding (GO:0042923)			NS(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	15						AAAGAGCCCACGAAGAAGTAA	0.498																																					GBM(198;1966 2199 4849 37227 49954)	ENST00000329773.2																			0				NS(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	15						c.(844-846)Gtg>Atg		MAS-related GPR, member X2							63	68	66					11																	19077106		2199	4293	6492	SO:0001583	missense	117194				sensory perception of pain|sleep	plasma membrane	G-protein coupled receptor activity|neuropeptide binding	g.chr11:19077106C>T		CCDS7847.1	11p15.1	2013-10-10			ENSG00000183695	ENSG00000183695		"GPCR / Class A : Orphans"	17983	protein-coding gene	gene with protein product		607228				11551509	Standard	NM_054030		Approved	MRGX2	uc001mph.3	Q96LB1	OTTHUMG00000166098	ENST00000329773.2:c.844G>A	11.37:g.19077106C>T	ENSP00000333800:p.Val282Met						p.V282M	NM_054030.2	NP_473371.1	Q96LB1	MRGX2_HUMAN			2	931	-			282					B5B0C7|Q4QXW4|Q4QXW7|Q4QXX0|Q4QXX2|Q4QXX3|Q4QXX4|Q4QXX6|Q4QXX7	Missense_Mutation	SNP	ENST00000329773.2	37	c.844G>A	CCDS7847.1	.	.	.	.	.	.	.	.	.	.	.	22.5	4.301442	0.81136	.	.	ENSG00000183695	ENST00000329773	T	0.36340	1.26	5.25	1.35	0.21983	.	0.224065	0.30686	N	0.009087	T	0.57388	0.2050	M	0.86502	2.82	0.09310	N	1	D	0.76494	0.999	D	0.66979	0.948	T	0.48222	-0.9054	10	0.51188	T	0.08	.	8.7422	0.34564	0.0:0.6716:0.0:0.3284	.	282	Q96LB1	MRGX2_HUMAN	M	282	ENSP00000333800:V282M	ENSP00000333800:V282M	V	-	1	0	MRGPRX2	19033682	0.023000	0.18921	0.023000	0.16930	0.826000	0.46750	0.453000	0.21811	0.471000	0.27319	0.650000	0.86243	GTG		0.498	MRGPRX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387819.1	NM_054030		20	39	0	0	0	1	0	20	39					T	19077106	C	T	19077106	3	4	396	1	0	0	0	0	1	0	0	0	9767	536	19	1	152	1	MRGPRX2	11	19077106	Missense_Mutation	SNP	C	TCGA-V1-A9ZI-01A-11D-A41K-08		19077106	115929410	25	19375											
LRRC4C	57689	broad.mit.edu	37	chr11	40136649	40136649	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acagctatccgcactttgtaCgccccatgtgtcatgactgt	8	12	8	13	2	1	1	1	1	0	0	2	1	2	1	3	0	2	3	3	0	2	3	rs370082164		TCGA-V1-A9ZI-01A-11D-A41K-08	TCGA-V1-A9ZI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	462042a6-0a40-476a-9ccd-aa55722888da	6162f308-9e45-4bf7-a192-64a636bd36bd	g.chr11:40136649C>T	ENST00000278198.2	-	2	3157	c.1194G>A	c.(1192-1194)gcG>gcA	p.A398A	LRRC4C_ENST00000530763.1_Silent_p.A398A|LRRC4C_ENST00000527150.1_Silent_p.A398A|LRRC4C_ENST00000528697.1_Silent_p.A398A			Q9HCJ2	LRC4C_HUMAN	leucine rich repeat containing 4C	398	Ig-like C2-type.				regulation of axonogenesis (GO:0050770)	cell junction (GO:0030054)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|postsynaptic membrane (GO:0045211)				NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86		all_lung(304;0.0575)|Lung NSC(402;0.138)				GCACTTTGTACGCCCCATGTG	0.463													C|||	1	0.000199681	0	0	5008	,	,		23231	0		0	False		,,,				2504	0.001					ENST00000278198.2																			0				NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86						c.(1192-1194)gcG>gcA		leucine rich repeat containing 4C		C		1,4405	2.1+/-5.4	0,1,2202	196	170	179		1194	-11.7	0	11		179	0,8600		0,0,4300	no	coding-synonymous	LRRC4C	NM_020929.1		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		398/641	40136649	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	57689				regulation of axonogenesis	integral to membrane	protein binding	g.chr11:40136649C>T	AB046800	CCDS31464.1	11p12	2013-01-14				ENSG00000148948		"Immunoglobulin superfamily / I-set domain containing"	29317	protein-coding gene	gene with protein product		608817				14595443	Standard	NM_020929		Approved	KIAA1580, NGL-1	uc031pzu.1	Q9HCJ2		ENST00000278198.2:c.1194G>A	11.37:g.40136649C>T						LRRC4C_ENST00000528697.1_Silent_p.A398A|LRRC4C_ENST00000527150.1_Silent_p.A398A|LRRC4C_ENST00000530763.1_Silent_p.A398A	p.A398A			Q9HCJ2	LRC4C_HUMAN			2	3157	-		all_lung(304;0.0575)|Lung NSC(402;0.138)	398			Ig-like C2-type.		A8K0T1|Q7L0N3	Silent	SNP	ENST00000278198.2	37	c.1194G>A	CCDS31464.1																																																																																				0.463	LRRC4C-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389499.1	NM_020929		64	101	0	0	0	1	0	64	101					T	40136649	C	T	40136649	2	4	396	1	0	0	0	0	0	0	0	1	9008	523	19	1		1	LRRC4C	11	40136649	Silent	SNP	C	TCGA-V1-A9ZI-01A-11D-A41K-08	21059543	40136649	94869867	26	19376											
GLYATL2	219970	broad.mit.edu	37	chr11	58602146	58602146	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aggactgttccatcacaatcCaagagacaagctggccctct	12	8	8	13	0	2	1	1	0	1	1	4	3	4	2	3	2	1	2	3	2	3	1			TCGA-V1-A9ZI-01A-11D-A41K-08	TCGA-V1-A9ZI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	462042a6-0a40-476a-9ccd-aa55722888da	6162f308-9e45-4bf7-a192-64a636bd36bd	g.chr11:58602146C>G	ENST00000287275.1	-	6	1031	c.641G>C	c.(640-642)tGg>tCg	p.W214S	GLYATL2_ENST00000532258.1_Missense_Mutation_p.W214S|GLYATL2_ENST00000533636.1_5'Flank	NM_145016.3	NP_659453.3	Q8WU03	GLYL2_HUMAN	glycine-N-acyltransferase-like 2	214						endoplasmic reticulum (GO:0005783)|mitochondrion (GO:0005739)	glycine N-acyltransferase activity (GO:0047961)			breast(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	23		Breast(21;0.0044)|all_epithelial(135;0.0216)			Glycine(DB00145)	CATCACAATCCAAGAGACAAG	0.448																																						ENST00000287275.1																			0				breast(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	23						c.(640-642)tGg>tCg		glycine-N-acyltransferase-like 2	Glycine(DB00145)						75	78	77					11																	58602146		2141	4266	6407	SO:0001583	missense	219970					mitochondrion	glycine N-acyltransferase activity	g.chr11:58602146C>G	AF426250	CCDS41649.1	11q12.1	2008-02-05				ENSG00000156689			24178	protein-coding gene	gene with protein product		614762				12477932	Standard	NM_145016		Approved	BXMAS2-10, MGC24009	uc001nnd.4	Q8WU03		ENST00000287275.1:c.641G>C	11.37:g.58602146C>G	ENSP00000287275:p.Trp214Ser					GLYATL2_ENST00000532258.1_Missense_Mutation_p.W214S	p.W214S	NM_145016.3	NP_659453.3	Q8WU03	GLYL2_HUMAN			6	1031	-		Breast(21;0.0044)|all_epithelial(135;0.0216)	214					A5LGC7|Q86WC3|Q96AT2	Missense_Mutation	SNP	ENST00000287275.1	37	c.641G>C	CCDS41649.1	.	.	.	.	.	.	.	.	.	.	C	16.83	3.230655	0.58777	.	.	ENSG00000156689	ENST00000287275;ENST00000532258	T;T	0.18657	2.2;2.2	4.19	4.19	0.49359	Acyl-CoA N-acyltransferase (2);Glycine N-acyltransferase, C-terminal (1);	0.000000	0.64402	U	0.000007	T	0.46889	0.1416	M	0.80183	2.485	0.21325	N	0.999727	D	0.89917	1.0	D	0.91635	0.999	T	0.37150	-0.9718	10	0.87932	D	0	.	12.1845	0.54229	0.0:1.0:0.0:0.0	.	214	Q8WU03	GLYL2_HUMAN	S	214	ENSP00000287275:W214S;ENSP00000434277:W214S	ENSP00000287275:W214S	W	-	2	0	GLYATL2	58358722	0.913000	0.31002	0.016000	0.15963	0.442000	0.32017	1.305000	0.33493	1.904000	0.55121	0.573000	0.79308	TGG		0.448	GLYATL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394599.1	NM_145016		19	25	0	0	0	1	0	19	25					G	58602146	C	G	58602146	3	3	396	1	0	0	0	0	1	0	0	0	6481	595	21	5	247	5	GLYATL2	11	58602146	Missense_Mutation	SNP	C	TCGA-V1-A9ZI-01A-11D-A41K-08	18465497	58602146	76404370	27	19377											
CD6	923	broad.mit.edu	37	chr11	60739360	60739367	+	Frame_Shift_Del	DEL	CTGGATTG	CTGGATTG	-																															gtggctcttcttcgggatcaCtggattgctgacggcagccc																										TCGA-V1-A9ZI-01A-11D-A41K-08	TCGA-V1-A9ZI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	462042a6-0a40-476a-9ccd-aa55722888da	6162f308-9e45-4bf7-a192-64a636bd36bd	g.chr11:60739360_60739367delCTGGATTG	ENST00000313421.7	+	1	209_216	c.23_30delCTGGATTG	c.(22-30)actggattgfs	p.TGL8fs	CD6_ENST00000545105.1_3'UTR|CD6_ENST00000346437.4_Frame_Shift_Del_p.TGL8fs|CD6_ENST00000452451.2_Frame_Shift_Del_p.TGL8fs|CD6_ENST00000352009.5_Frame_Shift_Del_p.TGL8fs|CD6_ENST00000344028.5_Frame_Shift_Del_p.TGL8fs	NM_006725.4	NP_006716.3	P30203	CD6_HUMAN	CD6 molecule	8					cell adhesion (GO:0007155)	integral component of plasma membrane (GO:0005887)	scavenger receptor activity (GO:0005044)			endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)	18						TTCGGGATCACTGGATTGCTGACGGCAG	0.639																																					Pancreas(169;904 2017 4767 38890 42505)	ENST00000313421.7																			0				endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)	18						c.(22-30)afs		CD6 molecule																																				SO:0001589	frameshift_variant	923				cell adhesion	cell surface|integral to plasma membrane	scavenger receptor activity	g.chr11:60739360_60739367delCTGGATTG		CCDS7999.1, CCDS58137.1, CCDS58138.1	11q12.2	2006-03-28	2006-03-28		ENSG00000013725	ENSG00000013725		"CD molecules"	1691	protein-coding gene	gene with protein product		186720	"CD6 antigen"			9013954	Standard	NM_006725		Approved	Tp120	uc001nqq.3	P30203	OTTHUMG00000167823	ENST00000313421.7:c.23_30delCTGGATTG	11.37:g.60739360_60739367delCTGGATTG	ENSP00000323280:p.Thr8fs					CD6_ENST00000344028.5_Frame_Shift_Del_p.TGL8fs|CD6_ENST00000452451.2_Frame_Shift_Del_p.TGL8fs|CD6_ENST00000352009.5_Frame_Shift_Del_p.TGL8fs|CD6_ENST00000346437.4_Frame_Shift_Del_p.TGL8fs|CD6_ENST00000545105.1_3'UTR	p.TGL8fs	NM_006725.4	NP_006716.3	P30203	CD6_HUMAN			1	209_216	+			8					A4KAD4|A4KAD5|Q9UMF2|Q9Y4K7|Q9Y4K8|Q9Y4K9|Q9Y4L0	Frame_Shift_Del	DEL	ENST00000313421.7	37	c.23_30delCTGGATTG	CCDS7999.1																																																																																				0.639	CD6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396449.1	NM_006725		5	9						5	9	---	---	---	---	-	60739367	CTGGATTG	-	60739360	7	5	396	1	0	1	0	1	0	0	0	0	3028	565	20	0	25	0	CD6	11	60739360	Frame_Shift_Del	DEL	CTGGATTG	TCGA-V1-A9ZI-01A-11D-A41K-08	2137214	60739360	74267156	28	19378											
AHNAK	79026	broad.mit.edu	37	chr11	62296914	62296914	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ggggcctttcaagtgtaagtCcacatcgggcatggagatct	9	10	13	9	1	2	1	1	0	1	1	4	2	3	1	2	4	0	2	2	4	2	2			TCGA-V1-A9ZI-01A-11D-A41K-08	TCGA-V1-A9ZI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	462042a6-0a40-476a-9ccd-aa55722888da	6162f308-9e45-4bf7-a192-64a636bd36bd	g.chr11:62296914C>T	ENST00000378024.4	-	5	5249	c.4975G>A	c.(4975-4977)Gac>Aac	p.D1659N	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	1659					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				AAGTGTAAGTCCACATCGGGC	0.473																																						ENST00000378024.4																			0				NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268						c.(4975-4977)Gac>Aac		AHNAK nucleoprotein							255	265	261					11																	62296914		2202	4299	6501	SO:0001583	missense	79026				nervous system development	nucleus	protein binding	g.chr11:62296914C>T	M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"desmoyokin"	103390	"AHNAK nucleoprotein (desmoyokin)"			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.4975G>A	11.37:g.62296914C>T	ENSP00000367263:p.Asp1659Asn					AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	p.D1659N	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN			5	5249	-		Melanoma(852;0.155)	1659					A1A586	Missense_Mutation	SNP	ENST00000378024.4	37	c.4975G>A	CCDS31584.1	.	.	.	.	.	.	.	.	.	.	C	11.79	1.742364	0.30865	.	.	ENSG00000124942	ENST00000378024	T	0.03330	3.97	3.97	3.04	0.35103	.	1.315100	0.05477	U	0.554043	T	0.09291	0.0229	M	0.72353	2.195	0.32384	N	0.554134	P	0.36183	0.542	B	0.40375	0.327	T	0.24548	-1.0157	10	0.32370	T	0.25	.	11.1644	0.48535	0.0:0.906:0.0:0.094	.	1659	Q09666	AHNK_HUMAN	N	1659	ENSP00000367263:D1659N	ENSP00000367263:D1659N	D	-	1	0	AHNAK	62053490	0.777000	0.28628	0.170000	0.22879	0.023000	0.10783	2.274000	0.43390	0.766000	0.33244	0.195000	0.17529	GAC		0.473	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060		131	172	0	0	0	1	0	131	172					T	62296914	C	T	62296914	3	4	396	1	0	0	0	0	1	0	0	0	414	855	30	3	12817	3	AHNAK	11	62296914	Missense_Mutation	SNP	C	TCGA-V1-A9ZI-01A-11D-A41K-08	1557554	62296914	72709602	29	19379											
C2CD3	26005	broad.mit.edu	37	chr11	73811642	73811643	+	Frame_Shift_Ins	INS	-	-	C																															gtcctgtcctgggctccgcaINSccttattccaagtttcaatt																								rs117535770	byFrequency	TCGA-V1-A9ZI-01A-11D-A41K-08	TCGA-V1-A9ZI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	462042a6-0a40-476a-9ccd-aa55722888da	6162f308-9e45-4bf7-a192-64a636bd36bd	g.chr11:73811642_73811643insC	ENST00000334126.7	-	15	2885_2886	c.2659_2660insG	c.(2659-2661)gtgfs	p.V887fs	C2CD3_ENST00000313663.7_Frame_Shift_Ins_p.V887fs			Q4AC94	C2CD3_HUMAN	C2 calcium-dependent domain containing 3	887					brain development (GO:0007420)|centriole elongation (GO:0061511)|embryonic digit morphogenesis (GO:0042733)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|neural plate axis specification (GO:0021997)|neural tube development (GO:0021915)|nonmotile primary cilium assembly (GO:0035058)|protein localization to centrosome (GO:0071539)|protein processing (GO:0016485)|regulation of proteolysis (GO:0030162)|regulation of smoothened signaling pathway (GO:0008589)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)				NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(26)|ovary(4)|pancreas(2)|prostate(1)|skin(3)	64	Breast(11;4.16e-06)					TGGGCTCCGCACCTTATTCCAA	0.441																																						ENST00000334126.7																			0				NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(26)|ovary(4)|pancreas(2)|prostate(1)|skin(3)	64						c.(2659-2661)gcgfs		C2 calcium-dependent domain containing 3																																				SO:0001589	frameshift_variant	26005					centrosome		g.chr11:73811642_73811643insC	BC035599	CCDS31636.1, CCDS66167.1	11q13.4	2014-02-12	2007-10-17		ENSG00000168014	ENSG00000168014			24564	protein-coding gene	gene with protein product		615944					Standard	XM_005273897		Approved	DKFZP586P0123	uc001ouu.2	Q4AC94	OTTHUMG00000168110	ENST00000334126.7:c.2660dupG	11.37:g.73811644_73811644dupC	ENSP00000334379:p.Val887fs					C2CD3_ENST00000313663.7_Frame_Shift_Ins_p.A887fs	p.A887fs			Q4AC94	C2CD3_HUMAN			15	2885_2886	-	Breast(11;4.16e-06)		887					C9JR55|E2QRD1|Q2NLE1|Q3C1U9|Q6ZU92|Q8IYM4|Q8NB87|Q8NDH7|Q9Y4M2	Frame_Shift_Ins	INS	ENST00000334126.7	37	c.2659_2660insG																																																																																					0.441	C2CD3-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015531		12	21						12	21	---	---	---	---	C	73811643	-	C	73811642	7	5	396	1	0	1	1	0	0	0	0	0	2154	159	6	0	3299	0	C2CD3	11	73811642	Frame_Shift_Ins	INS	-	TCGA-V1-A9ZI-01A-11D-A41K-08	11514728	73811642	61194874	30	19380											
VWF	7450	broad.mit.edu	37	chr12	6061684	6061684	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catcctggagcgtctcatcaCgctggaaggaaagaggagtg	11	7	14	9	2	2	1	2	0	1	1	4	5	3	5	1	4	1	1	1	4	2	0	rs149834874	byFrequency	TCGA-V1-A9ZI-01A-11D-A41K-08	TCGA-V1-A9ZI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	462042a6-0a40-476a-9ccd-aa55722888da	6162f308-9e45-4bf7-a192-64a636bd36bd	g.chr12:6061684C>T	ENST00000261405.5	-	49	8242	c.7988G>A	c.(7987-7989)cGt>cAt	p.R2663H		NM_000552.3	NP_000543	P04275	VWF_HUMAN	von Willebrand factor	2663					blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|cell-substrate adhesion (GO:0031589)|extracellular matrix organization (GO:0030198)|hemostasis (GO:0007599)|liver development (GO:0001889)|placenta development (GO:0001890)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|protein homooligomerization (GO:0051260)|response to wounding (GO:0009611)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|proteinaceous extracellular matrix (GO:0005578)|Weibel-Palade body (GO:0033093)	chaperone binding (GO:0051087)|collagen binding (GO:0005518)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|immunoglobulin binding (GO:0019865)|integrin binding (GO:0005178)|protease binding (GO:0002020)|protein homodimerization activity (GO:0042803)|protein N-terminus binding (GO:0047485)			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	CGTCTCATCACGCTGGAAGGA	0.498																																						ENST00000261405.5																			0				NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129	GRCh37	CM070325	VWF	M	rs149834874	c.e49-1		von Willebrand factor	Antihemophilic Factor(DB00025)						82	71	75					12																	6061684		2203	4300	6503	SO:0001630	splice_region_variant	7450				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding	g.chr12:6061684C>T		CCDS8539.1	12p13.3	2014-09-17			ENSG00000110799	ENSG00000110799		"Endogenous ligands"	12726	protein-coding gene	gene with protein product		613160		F8VWF		2251280	Standard	NM_000552		Approved		uc001qnn.1	P04275	OTTHUMG00000168265	ENST00000261405.5:c.7987-1G>A	12.37:g.6061684C>T							p.R2663_splice	NM_000552.3	NP_000543.2	P04275	VWF_HUMAN			49	8242	-			2663					Q8TCE8|Q99806	Splice_Site	SNP	ENST00000261405.5	37	c.7986_splice	CCDS8539.1	.	.	.	.	.	.	.	.	.	.	C	12.04	1.819694	0.32145	.	.	ENSG00000110799	ENST00000261405	T	0.36157	1.27	5.36	2.2	0.27929	.	0.250565	0.22061	N	0.065177	T	0.33000	0.0848	M	0.75447	2.3	0.80722	D	1	P	0.42973	0.796	B	0.36666	0.23	T	0.15037	-1.0451	10	0.44086	T	0.13	.	8.2295	0.31590	0.0:0.4275:0.4791:0.0934	.	2663	P04275	VWF_HUMAN	H	2663	ENSP00000261405:R2663H	ENSP00000261405:R2663H	R	-	2	0	VWF	5931945	0.999000	0.42202	0.987000	0.45799	0.079000	0.17450	1.336000	0.33850	0.737000	0.32582	0.655000	0.94253	CGT		0.498	VWF-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399020.1	NM_000552	Missense_Mutation	9	10	0	0	0	1	0	9	10					T	6061684	C	T	6061684	5	4	396	1	0	0	0	0	0	0	1	0	17243	550	19	1	469	1	VWF	12	6061684	Splice_Site	SNP	C	TCGA-V1-A9ZI-01A-11D-A41K-08		6061684	127790211	31	19381											
MLL2	8085	broad.mit.edu	37	chr12	49428624	49428633	+	Frame_Shift_Del	DEL	GCCCTGAGCC	GCCCTGAGCC	-																															ccaggtgccaccccaatgctGccctgagccatcactttctt																										TCGA-V1-A9ZI-01A-11D-A41K-08	TCGA-V1-A9ZI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	462042a6-0a40-476a-9ccd-aa55722888da	6162f308-9e45-4bf7-a192-64a636bd36bd	g.chr12:49428624_49428633delGCCCTGAGCC	ENST00000301067.7	-	35	10316_10325	c.10317_10326delGGCTCAGGGC	c.(10315-10326)atggctcagggcfs	p.MAQG3439fs	KMT2D_ENST00000549743.1_5'Flank	NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	3439	Gln-rich.				chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)										CCCCAATGCTGCCCTGAGCCATCACTTTCT	0.524																																						ENST00000301067.7																			0											c.(10315-10326)atfs		lysine (K)-specific methyltransferase 2D																																				SO:0001589	frameshift_variant	8085							g.chr12:49428624_49428633delGCCCTGAGCC	AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	7133	protein-coding gene	gene with protein product		602113	"trinucleotide repeat containing 21", "myeloid/lymphoid or mixed-lineage leukemia 2"	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.10317_10326delGGCTCAGGGC	12.37:g.49428624_49428633delGCCCTGAGCC	ENSP00000301067:p.Met3439fs						p.MAQG3439fs	NM_003482.3	NP_003473.3					35	10316_10325	-								O14687	Frame_Shift_Del	DEL	ENST00000301067.7	37	c.10317_10326delGGCTCAGGGC	CCDS44873.1																																																																																				0.524	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2			14	57						14	57	---	---	---	---	-	49428633	GCCCTGAGCC	-	49428624	7	5	396	1	0	1	0	1	0	0	0	0	9621	1306	46	0	6367	0	MLL2	12	49428624	Frame_Shift_Del	DEL	GCCCTGAGCC	TCGA-V1-A9ZI-01A-11D-A41K-08	43366940	49428624	84423271	32	19382											
SLC6A15	55117	broad.mit.edu	37	chr12	85255473	85255473	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caagtaccctattccataccGtccattgggagcagtatcca	11	10	7	13	1	0	0	0	0	0	0	3	1	3	1	5	1	3	3	5	1	5	6	rs368561170		TCGA-V1-A9ZI-01A-11D-A41K-08	TCGA-V1-A9ZI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	462042a6-0a40-476a-9ccd-aa55722888da	6162f308-9e45-4bf7-a192-64a636bd36bd	g.chr12:85255473G>A	ENST00000266682.5	-	12	2672	c.2131C>T	c.(2131-2133)Cgg>Tgg	p.R711W	SLC6A15_ENST00000309283.7_3'UTR|SLC6A15_ENST00000552192.1_Missense_Mutation_p.R604W	NM_182767.5	NP_877499.1	Q9H2J7	S6A15_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 15	711					amino acid transport (GO:0006865)|ion transport (GO:0006811)|leucine transport (GO:0015820)|neurotransmitter transport (GO:0006836)|neutral amino acid transport (GO:0015804)|proline transport (GO:0015824)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neurotransmitter transporter activity (GO:0005326)|neurotransmitter:sodium symporter activity (GO:0005328)|proline:sodium symporter activity (GO:0005298)			kidney(1)|large_intestine(18)|lung(15)|ovary(1)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	44						ATTCCATACCGTCCATTGGGA	0.413													G|||	1	0.000199681	0	0	5008	,	,		19169	0		0	False		,,,				2504	0.001					ENST00000266682.5																			0				kidney(1)|large_intestine(18)|lung(15)|ovary(1)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	44						c.(2131-2133)Cgg>Tgg		solute carrier family 6 (neutral amino acid transporter), member 15							129	123	125					12																	85255473		2203	4300	6503	SO:0001583	missense	55117				cellular nitrogen compound metabolic process|leucine transport|proline transport	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity	g.chr12:85255473G>A	AF265577	CCDS9026.1, CCDS9027.1, CCDS53816.1	12q21.31	2013-07-15	2008-09-02		ENSG00000072041	ENSG00000072041		"Solute carriers"	13621	protein-coding gene	gene with protein product	"homolog of rat orphan transporter v7-3", "sodium/chloride dependent neurotransmitter transporter Homo sapiens orphan neurotransmitter transporter NTT7"	607971	"solute carrier family 6 (neurotransmitter transporter), member 15"			10471414, 11112352, 16185194	Standard	NM_182767		Approved	hv7-3, NTT73, FLJ10316, V7-3, SBAT1	uc001szv.4	Q9H2J7	OTTHUMG00000169742	ENST00000266682.5:c.2131C>T	12.37:g.85255473G>A	ENSP00000266682:p.Arg711Trp					SLC6A15_ENST00000552192.1_Missense_Mutation_p.R604W|SLC6A15_ENST00000309283.7_3'UTR	p.R711W	NM_182767.5	NP_877499.1	Q9H2J7	S6A15_HUMAN			12	2672	-			711					A8K592|B7Z2P7|E7ESJ5|Q9H9F5	Missense_Mutation	SNP	ENST00000266682.5	37	c.2131C>T	CCDS9026.1	.	.	.	.	.	.	.	.	.	.	G	20.1	3.936088	0.73442	.	.	ENSG00000072041	ENST00000266682;ENST00000552192;ENST00000548267	T;T	0.76060	-0.8;-0.99	5.6	5.6	0.85130	.	0.394161	0.28796	N	0.014112	T	0.81341	0.4802	L	0.46157	1.445	0.80722	D	1	D	0.69078	0.997	P	0.58266	0.836	T	0.82711	-0.0322	10	0.87932	D	0	.	19.6223	0.95663	0.0:0.0:1.0:0.0	.	711	Q9H2J7	S6A15_HUMAN	W	711;604;189	ENSP00000266682:R711W;ENSP00000450145:R604W	ENSP00000266682:R711W	R	-	1	2	SLC6A15	83779604	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.905000	0.69893	2.616000	0.88540	0.655000	0.94253	CGG		0.413	SLC6A15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405678.1	NM_018057, NM_182767		41	77	0	0	0	1	0	41	77					A	85255473	G	A	85255473	3	1	396	1	0	0	0	0	1	0	0	0	14678	1144	40	1	65	1	SLC6A15	12	85255473	Missense_Mutation	SNP	G	TCGA-V1-A9ZI-01A-11D-A41K-08	35826849	85255473	48596422	33	19383											
ARHGAP5	394	broad.mit.edu	37	chr14	32586457	32586457	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctgagaagcccataccactaTttgttgagaaatgtgtggaa	13	11	10	7	0	0	2	0	2	0	2	0	5	0	3	2	1	2	1	2	1	5	4			TCGA-V1-A9ZI-01A-11D-A41K-08	TCGA-V1-A9ZI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	462042a6-0a40-476a-9ccd-aa55722888da	6162f308-9e45-4bf7-a192-64a636bd36bd	g.chr14:32586457T>G	ENST00000345122.3	+	3	4144	c.3829T>G	c.(3829-3831)Ttt>Gtt	p.F1277V	ARHGAP5_ENST00000556611.1_Missense_Mutation_p.F1276V|ARHGAP5_ENST00000539826.2_Missense_Mutation_p.F1277V|ARHGAP5_ENST00000432921.1_Missense_Mutation_p.F1276V|ARHGAP5_ENST00000396582.2_Intron|ARHGAP5_ENST00000433497.1_Missense_Mutation_p.F16V	NM_001030055.1	NP_001025226.1	Q13017	RHG05_HUMAN	Rho GTPase activating protein 5	1277	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				cell adhesion (GO:0007155)|GTP catabolic process (GO:0006184)|mammary gland development (GO:0030879)|positive regulation of cell migration (GO:0030335)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell size (GO:0008361)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|Rho GTPase activator activity (GO:0005100)|SH2 domain binding (GO:0042169)			NS(2)|breast(10)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(12)|ovary(4)|skin(1)|stomach(1)|urinary_tract(4)	55	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00566)		CATACCACTATTTGTTGAGAA	0.368																																					NSCLC(9;77 350 3443 29227 41353)	ENST00000345122.3																			0				NS(2)|breast(10)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(12)|ovary(4)|skin(1)|stomach(1)|urinary_tract(4)	55						c.(3829-3831)Ttt>Gtt		Rho GTPase activating protein 5							83	88	86					14																	32586457		2203	4300	6503	SO:0001583	missense	394				cell adhesion|Rho protein signal transduction	cytosol|membrane	GTP binding|GTPase activity|Rho GTPase activator activity|SH2 domain binding	g.chr14:32586457T>G	U17032	CCDS32062.1, CCDS45095.1	14q12	2010-02-05						"Rho GTPase activating proteins"	675	protein-coding gene	gene with protein product		602680	"growth factor independent 2"	GFI2		8537347	Standard	XM_005267635		Approved	RhoGAP5, p190-B, p190BRhoGAP	uc001wrn.3	Q13017		ENST00000345122.3:c.3829T>G	14.37:g.32586457T>G	ENSP00000371897:p.Phe1277Val					ARHGAP5_ENST00000556611.1_Missense_Mutation_p.F1276V|ARHGAP5_ENST00000433497.1_Missense_Mutation_p.F16V|ARHGAP5_ENST00000432921.1_Missense_Mutation_p.F1276V|ARHGAP5_ENST00000396582.2_Intron|ARHGAP5_ENST00000539826.2_Missense_Mutation_p.F1277V	p.F1277V	NM_001030055.1	NP_001025226.1	Q13017	RHG05_HUMAN	LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00566)	3	4144	+	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186)		1277			Rho-GAP.		A1L375|A1L376|A8KAA1|D3DS89|D3DS90|Q05BE8|Q05BU8|Q59ER0|Q6DHZ3	Missense_Mutation	SNP	ENST00000345122.3	37	c.3829T>G	CCDS32062.1	.	.	.	.	.	.	.	.	.	.	T	24.2	4.507473	0.85282	.	.	ENSG00000100852	ENST00000556611;ENST00000539826;ENST00000345122;ENST00000432921;ENST00000433497;ENST00000554090	T;T;T;T;T;T	0.16597	2.33;2.33;2.33;2.33;2.33;2.33	5.61	5.61	0.85477	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	0.000000	0.85682	D	0.000000	T	0.32585	0.0834	L	0.35249	1.045	0.80722	D	1	D;D	0.71674	0.998;0.998	D;D	0.85130	0.995;0.997	T	0.05616	-1.0874	10	0.87932	D	0	.	15.7955	0.78407	0.0:0.0:0.0:1.0	.	1276;1277	Q13017-2;Q13017	.;RHG05_HUMAN	V	1276;1277;1277;1276;16;16	ENSP00000452222:F1276V;ENSP00000441692:F1277V;ENSP00000371897:F1277V;ENSP00000393307:F1276V;ENSP00000407395:F16V;ENSP00000451061:F16V	ENSP00000216743:F131V	F	+	1	0	ARHGAP5	31656208	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.380000	0.79704	2.133000	0.65898	0.460000	0.39030	TTT		0.368	ARHGAP5-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000409735.1	NM_001030055		23	45	0	0	0	1	0	23	45					G	32586457	T	G	32586457	3	3	396	1	0	0	0	0	1	0	0	0	886	1493	52	5	3835	5	ARHGAP5	14	32586457	Missense_Mutation	SNP	T	TCGA-V1-A9ZI-01A-11D-A41K-08		32586457	74763083	34	19384											
CSPG4	1464	broad.mit.edu	37	chr15	75968987	75968987	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gctgctggctcagtgaggagCgccccaaagcttggggcacc	7	6	15	13	1	1	1	1	1	0	0	1	2	1	2	3	4	3	5	3	4	1	1			TCGA-V1-A9ZI-01A-11D-A41K-08	TCGA-V1-A9ZI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	462042a6-0a40-476a-9ccd-aa55722888da	6162f308-9e45-4bf7-a192-64a636bd36bd	g.chr15:75968987C>T	ENST00000308508.5	-	10	5965	c.5873G>A	c.(5872-5874)cGc>cAc	p.R1958H	AC105020.1_ENST00000435356.1_5'Flank|CTD-2026K11.1_ENST00000569467.1_RNA	NM_001897.4	NP_001888.2	Q6UVK1	CSPG4_HUMAN	chondroitin sulfate proteoglycan 4	1958	Cysteine-containing.|Neurite growth inhibition. {ECO:0000250}.				activation of MAPK activity (GO:0000187)|angiogenesis (GO:0001525)|carbohydrate metabolic process (GO:0005975)|cell proliferation (GO:0008283)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|intracellular signal transduction (GO:0035556)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|small molecule metabolic process (GO:0044281)|tissue remodeling (GO:0048771)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell projection (GO:0042995)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)	protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)			breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4)	48						CAGTGAGGAGCGCCCCAAAGC	0.662																																						ENST00000308508.5																			0				breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4)	48						c.(5872-5874)cGc>cAc		chondroitin sulfate proteoglycan 4							38	47	44					15																	75968987		2197	4292	6489	SO:0001583	missense	1464				angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling	apical plasma membrane|cell surface|integral to plasma membrane|intracellular|lamellipodium membrane	protein kinase binding|signal transducer activity	g.chr15:75968987C>T	X96753, AY359468	CCDS10284.1	15q24.2	2010-04-19	2007-02-16		ENSG00000173546	ENSG00000173546		"Proteoglycans / Cell surface : Other"	2466	protein-coding gene	gene with protein product	"melanoma-associated chondroitin sulfate proteoglycan"	601172	"chondroitin sulfate proteoglycan 4 (melanoma-associated)"			8790396, 16407841	Standard	NM_001897		Approved	MCSPG, MEL-CSPG, MSK16, NG2, MCSP, HMW-MAA	uc002baw.3	Q6UVK1	OTTHUMG00000142836	ENST00000308508.5:c.5873G>A	15.37:g.75968987C>T	ENSP00000312506:p.Arg1958His					CTD-2026K11.1_ENST00000569467.1_RNA	p.R1958H	NM_001897.4	NP_001888.2	Q6UVK1	CSPG4_HUMAN			10	5965	-			1958			Cysteine-containing.|Neurite growth inhibition (By similarity).		D3DW77|Q92675	Missense_Mutation	SNP	ENST00000308508.5	37	c.5873G>A	CCDS10284.1	.	.	.	.	.	.	.	.	.	.	C	11.09	1.536708	0.27475	.	.	ENSG00000173546	ENST00000308508	T	0.17213	2.29	5.15	4.23	0.50019	.	0.307372	0.23708	N	0.045351	T	0.15696	0.0378	L	0.59436	1.845	0.09310	N	1	B	0.16396	0.017	B	0.08055	0.003	T	0.20472	-1.0274	10	0.22706	T	0.39	.	7.8883	0.29663	0.159:0.7596:0.0:0.0814	.	1958	Q6UVK1	CSPG4_HUMAN	H	1958	ENSP00000312506:R1958H	ENSP00000312506:R1958H	R	-	2	0	CSPG4	73756042	0.000000	0.05858	0.011000	0.14972	0.971000	0.66376	0.341000	0.19909	1.169000	0.42739	0.561000	0.74099	CGC		0.662	CSPG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286472.1	NM_001897		4	70	0	0	0	1	0	4	70					T	75968987	C	T	75968987	3	4	396	1	0	0	0	0	1	0	0	0	3960	768	27	1	1099	1	CSPG4	15	75968987	Missense_Mutation	SNP	C	TCGA-V1-A9ZI-01A-11D-A41K-08		75968987	26562405	35	19385											
SNRPA1	6627	broad.mit.edu	37	chr15	101821982	101821982	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcttcttcaccatcatcagTgggccctaaagaaaaccacc	12	9	5	15	0	5	1	3	0	2	1	5	1	5	1	4	1	1	0	4	1	4	3			TCGA-V1-A9ZI-01A-11D-A41K-08	TCGA-V1-A9ZI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	462042a6-0a40-476a-9ccd-aa55722888da	6162f308-9e45-4bf7-a192-64a636bd36bd	g.chr15:101821982T>G	ENST00000254193.6	-	9	787	c.715A>C	c.(715-717)Act>Cct	p.T239P		NM_003090.2	NP_003081.2	P09661	RU2A_HUMAN	small nuclear ribonucleoprotein polypeptide A'	239					gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|small nuclear ribonucleoprotein complex (GO:0030532)|spliceosomal complex (GO:0005681)|U2 snRNP (GO:0005686)	poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)	6	Lung NSC(78;0.00156)|all_lung(78;0.00195)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.00113)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			CCATCATCAGTGGGCCCTAAA	0.433																																						ENST00000254193.6																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(3)	6						c.(715-717)Act>Cct		small nuclear ribonucleoprotein polypeptide A'							102	99	100					15																	101821982		2203	4300	6503	SO:0001583	missense	6627					catalytic step 2 spliceosome|nucleoplasm|U2 snRNP	protein binding|RNA binding	g.chr15:101821982T>G	AJ130971	CCDS10391.1	15q26.3	2011-10-11			ENSG00000131876	ENSG00000131876			11152	protein-coding gene	gene with protein product		603521				2928112	Standard	NM_003090		Approved	Lea1	uc002bww.3	P09661	OTTHUMG00000149871	ENST00000254193.6:c.715A>C	15.37:g.101821982T>G	ENSP00000254193:p.Thr239Pro						p.T239P	NM_003090.2	NP_003081.2	P09661	RU2A_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.00113)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)		9	787	-	Lung NSC(78;0.00156)|all_lung(78;0.00195)|Melanoma(26;0.00505)		239					B2R5I6|Q8TBD2	Missense_Mutation	SNP	ENST00000254193.6	37	c.715A>C	CCDS10391.1	.	.	.	.	.	.	.	.	.	.	T	11.07	1.531813	0.27387	.	.	ENSG00000131876	ENST00000254193	T	0.44881	0.91	4.85	-1.51	0.08664	.	0.810221	0.11669	N	0.541047	T	0.15305	0.0369	N	0.02011	-0.69	0.09310	N	1	B	0.20368	0.044	B	0.23574	0.047	T	0.27088	-1.0084	10	0.28530	T	0.3	.	6.6339	0.22872	0.245:0.5097:0.0:0.2452	.	239	P09661	RU2A_HUMAN	P	239	ENSP00000254193:T239P	ENSP00000254193:T239P	T	-	1	0	SNRPA1	99639505	0.001000	0.12720	0.642000	0.29436	0.994000	0.84299	-0.797000	0.04570	-0.304000	0.08843	0.528000	0.53228	ACT		0.433	SNRPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313621.2	NM_003090		10	27	0	0	0	1	0	10	27					G	101821982	T	G	101821982	3	3	396	1	0	0	0	0	1	0	0	0	14860	1696	59	5	56	5	SNRPA1	15	101821982	Missense_Mutation	SNP	T	TCGA-V1-A9ZI-01A-11D-A41K-08	25852995	101821982	709410	36	19386											
PKD1	5310	broad.mit.edu	37	chr16	2149944	2149944	+	Frame_Shift_Del	DEL	C	C	-																															gaggagaacgcagcaggtggCcctctggatgcgagtgaaac																										TCGA-V1-A9ZI-01A-11D-A41K-08	TCGA-V1-A9ZI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	462042a6-0a40-476a-9ccd-aa55722888da	6162f308-9e45-4bf7-a192-64a636bd36bd	g.chr16:2149944delC	ENST00000262304.4	-	29	10049	c.9841delG	c.(9841-9843)gccfs	p.A3281fs	RP11-304L19.3_ENST00000565937.1_RNA|PKD1_ENST00000423118.1_Frame_Shift_Del_p.A3281fs	NM_001009944.2	NP_001009944	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	3281					anatomical structure morphogenesis (GO:0009653)|branching morphogenesis of an epithelial tube (GO:0048754)|calcium ion transmembrane transport (GO:0070588)|calcium-independent cell-matrix adhesion (GO:0007161)|cartilage condensation (GO:0001502)|cartilage development (GO:0051216)|cation transmembrane transport (GO:0098655)|cell cycle arrest (GO:0007050)|cell-matrix adhesion (GO:0007160)|cytoplasmic sequestering of transcription factor (GO:0042994)|detection of mechanical stimulus (GO:0050982)|digestive tract development (GO:0048565)|embryonic placenta development (GO:0001892)|genitalia development (GO:0048806)|heart development (GO:0007507)|homophilic cell adhesion (GO:0007156)|in utero embryonic development (GO:0001701)|JAK-STAT cascade (GO:0007259)|kidney development (GO:0001822)|liver development (GO:0001889)|lung epithelium development (GO:0060428)|mesonephric duct development (GO:0072177)|mesonephric tubule development (GO:0072164)|metanephric ascending thin limb development (GO:0072218)|metanephric collecting duct development (GO:0072205)|metanephric distal tubule morphogenesis (GO:0072287)|metanephric proximal tubule development (GO:0072237)|neural tube development (GO:0021915)|neuropeptide signaling pathway (GO:0007218)|nitrogen compound metabolic process (GO:0006807)|peptidyl-serine phosphorylation (GO:0018105)|placenta blood vessel development (GO:0060674)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of protein binding (GO:0032092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein export from nucleus (GO:0006611)|regulation of mitotic spindle organization (GO:0060236)|regulation of proteasomal protein catabolic process (GO:0061136)|response to fluid shear stress (GO:0034405)|skin development (GO:0043588)|spinal cord development (GO:0021510)	basolateral plasma membrane (GO:0016323)|cilium (GO:0005929)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|motile primary cilium (GO:0031512)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|polycystin complex (GO:0002133)	calcium channel activity (GO:0005262)|carbohydrate binding (GO:0030246)|cation channel activity (GO:0005261)|ion channel binding (GO:0044325)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						CAGCAGGTGGCCCTCTGGATG	0.637																																						ENST00000262304.4																			0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						c.(9841-9843)ccfs		polycystic kidney disease 1 (autosomal dominant)							15	12	13					16																	2149944		2141	4214	6355	SO:0001589	frameshift_variant	5310				calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding	g.chr16:2149944delC	L33243	CCDS32369.1, CCDS45385.1	16p13.3	2014-01-28			ENSG00000008710	ENSG00000008710		"Voltage-gated ion channels / Transient receptor potential cation channels"	9008	protein-coding gene	gene with protein product	"polycystin 1", "transient receptor potential cation channel, subfamily P, member 1"	601313					Standard	NM_001009944		Approved	PBP, Pc-1, TRPP1	uc002cos.1	P98161	OTTHUMG00000155795	ENST00000262304.4:c.9841delG	16.37:g.2149944delC	ENSP00000262304:p.Ala3281fs					PKD1_ENST00000423118.1_Frame_Shift_Del_p.A3281fs	p.A3281fs	NM_001009944.2	NP_001009944.2	P98161	PKD1_HUMAN			29	10049	-			3281					Q15140|Q15141	Frame_Shift_Del	DEL	ENST00000262304.4	37	c.9841delG	CCDS32369.1																																																																																				0.637	PKD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341688.1			2	4						2	4	---	---	---	---	-	2149944	C	-	2149944	7	5	396	1	0	1	0	1	0	0	0	0	11963	739	26	0	3142	0	PKD1	16	2149944	Frame_Shift_Del	DEL	C	TCGA-V1-A9ZI-01A-11D-A41K-08		2149944	88204809	37	19387											
ABCA3	21	broad.mit.edu	37	chr16	2334347	2334347	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctccgcgtctcgtagttctcGtagaaactgctgactgccat	7	12	9	13	4	2	2	0	1	2	1	5	2	3	2	2	0	3	4	2	0	3	3	rs140948738	byFrequency	TCGA-V1-A9ZI-01A-11D-A41K-08	TCGA-V1-A9ZI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	462042a6-0a40-476a-9ccd-aa55722888da	6162f308-9e45-4bf7-a192-64a636bd36bd	g.chr16:2334347G>A	ENST00000301732.5	-	25	4495	c.3795C>T	c.(3793-3795)taC>taT	p.Y1265Y	ABCA3_ENST00000382381.3_Silent_p.Y1207Y	NM_001089.2	NP_001080.2	Q99758	ABCA3_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 3	1265					response to drug (GO:0042493)|transmembrane transport (GO:0055085)|transport (GO:0006810)	alveolar lamellar body (GO:0097208)|alveolar lamellar body membrane (GO:0097233)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)			breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1)	70		Ovarian(90;0.17)			Imatinib(DB00619)	CGTAGTTCTCGTAGAAACTGC	0.577													G|||	2	0.000399361	0	0	5008	,	,		18296	0.001		0	False		,,,				2504	0.001					ENST00000301732.5																			0				breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1)	70						c.(3793-3795)taC>taT		ATP-binding cassette, sub-family A (ABC1), member 3		G		0,4396		0,0,2198	120	114	116		3795	-6.8	0.9	16	dbSNP_134	116	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	ABCA3	NM_001089.2		0,1,6497	AA,AG,GG		0.0116,0.0,0.0077		1265/1705	2334347	1,12995	2198	4300	6498	SO:0001819	synonymous_variant	21				response to drug	integral to membrane|lamellar body|membrane fraction|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr16:2334347G>A	U78735	CCDS10466.1	16p13.3	2012-03-14			ENSG00000167972	ENSG00000167972		"ATP binding cassette transporters / subfamily A"	33	protein-coding gene	gene with protein product		601615		ABC3		8706931	Standard	NM_001089		Approved	ABC-C, EST111653, LBM180	uc002cpy.1	Q99758	OTTHUMG00000128845	ENST00000301732.5:c.3795C>T	16.37:g.2334347G>A						ABCA3_ENST00000382381.3_Silent_p.Y1207Y	p.Y1265Y	NM_001089.2	NP_001080.2	Q99758	ABCA3_HUMAN			25	4495	-		Ovarian(90;0.17)	1265					B2RU09|Q54A95|Q6P5P9|Q92473	Silent	SNP	ENST00000301732.5	37	c.3795C>T	CCDS10466.1																																																																																				0.577	ABCA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250784.2	NM_001089		40	47	0	0	0	1	0	40	47					A	2334347	G	A	2334347	2	1	396	1	0	0	0	0	0	0	0	1	33	1140	40	1		1	ABCA3	16	2334347	Silent	SNP	G	TCGA-V1-A9ZI-01A-11D-A41K-08	184403	2334347	88020406	38	19388											
GPR97	222487	broad.mit.edu	37	chr16	57718380	57718380	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	catccgtgatagggagaaccGcacctctctggagctgtgag	9	8	13	11	2	1	3	0	2	1	1	3	5	2	4	3	2	2	2	3	2	2	1	rs554076542		TCGA-V1-A9ZI-01A-11D-A41K-08	TCGA-V1-A9ZI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	462042a6-0a40-476a-9ccd-aa55722888da	6162f308-9e45-4bf7-a192-64a636bd36bd	g.chr16:57718380G>A	ENST00000333493.4	+	10	1402	c.1241G>A	c.(1240-1242)cGc>cAc	p.R414H	RP11-405F3.4_ENST00000563062.1_RNA|GPR97_ENST00000450388.3_Missense_Mutation_p.R294H|GPR97_ENST00000327655.6_Missense_Mutation_p.R204H	NM_170776.4	NP_740746.4	Q86Y34	GPR97_HUMAN	G protein-coupled receptor 97	414					neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						AGGGAGAACCGCACCTCTCTG	0.632													.|||	1	0.000199681	0	0	5008	,	,		18404	0.001		0	False		,,,				2504	0					ENST00000333493.4																			0				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						c.(1240-1242)cGc>cAc		G protein-coupled receptor 97							49	44	45					16																	57718380		2198	4300	6498	SO:0001583	missense	222487				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr16:57718380G>A	AY140959	CCDS10786.1	16q13	2014-08-08			ENSG00000182885	ENSG00000182885		"-", "GPCR / Class B : Orphans"	13728	protein-coding gene	gene with protein product						12435584, 222487	Standard	NM_170776		Approved	Pb99, PGR26	uc002emh.3	Q86Y34	OTTHUMG00000133458	ENST00000333493.4:c.1241G>A	16.37:g.57718380G>A	ENSP00000332900:p.Arg414His					GPR97_ENST00000327655.6_Missense_Mutation_p.R204H|RP11-405F3.4_ENST00000563062.1_RNA|GPR97_ENST00000450388.3_Missense_Mutation_p.R294H	p.R414H	NM_170776.4	NP_740746.4	Q86Y34	GPR97_HUMAN			10	1402	+			414					Q6ZMF4|Q86SL9|Q8IZF1	Missense_Mutation	SNP	ENST00000333493.4	37	c.1241G>A	CCDS10786.1	.	.	.	.	.	.	.	.	.	.	G	11.59	1.685345	0.29872	.	.	ENSG00000182885	ENST00000333493;ENST00000327655;ENST00000450388	T;T;T	0.33654	1.58;1.4;1.59	4.76	-3.84	0.04256	GPCR, family 2-like (1);	1.528330	0.03697	N	0.247935	T	0.18257	0.0438	N	0.22421	0.69	0.09310	N	1	B	0.29232	0.238	B	0.20955	0.032	T	0.08229	-1.0732	10	0.33940	T	0.23	.	0.5118	0.00597	0.2444:0.201:0.3246:0.2299	.	414	Q86Y34	GPR97_HUMAN	H	414;204;294	ENSP00000332900:R414H;ENSP00000331199:R204H;ENSP00000404803:R294H	ENSP00000331199:R204H	R	+	2	0	GPR97	56275881	0.000000	0.05858	0.000000	0.03702	0.834000	0.47266	-1.128000	0.03247	-0.465000	0.06953	0.585000	0.79938	CGC		0.632	GPR97-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257333.2	NM_170776		14	10	0	0	0	1	0	14	10					A	57718380	G	A	57718380	3	1	396	1	0	0	0	0	1	0	0	0	6720	1087	38	1	1279	1	GPR97	16	57718380	Missense_Mutation	SNP	G	TCGA-V1-A9ZI-01A-11D-A41K-08	55384033	57718380	32636373	39	19389											
TP53	7157	broad.mit.edu	37	chr17	7578222	7578223	+	Frame_Shift_Del	DEL	TC	TC	-																															acactatgtcgaaaagtgttTctgtcatccaaatactccac																										TCGA-V1-A9ZI-01A-11D-A41K-08	TCGA-V1-A9ZI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	462042a6-0a40-476a-9ccd-aa55722888da	6162f308-9e45-4bf7-a192-64a636bd36bd	g.chr17:7578222_7578223delTC	ENST00000269305.4	-	6	815_816	c.626_627delGA	c.(625-627)agafs	p.R209fs	TP53_ENST00000413465.2_Frame_Shift_Del_p.R209fs|TP53_ENST00000574684.1_Intron|TP53_ENST00000455263.2_Frame_Shift_Del_p.R209fs|TP53_ENST00000420246.2_Frame_Shift_Del_p.R209fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.R209fs|TP53_ENST00000359597.4_Frame_Shift_Del_p.R209fs	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	209	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		R -> I (in sporadic cancers; somatic mutation).|R -> K (in sporadic cancers; somatic mutation).|R -> S (in a sporadic cancer; somatic mutation).|R -> T (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R209fs*6(38)|p.0?(8)|p.R209K(7)|p.?(5)|p.R209T(3)|p.R77fs*6(2)|p.R209fs*35(2)|p.D207fs*6(2)|p.R209fs*38(2)|p.R116fs*6(2)|p.R77K(1)|p.R116K(1)|p.E204_N210delEYLDDRN(1)|p.R209fs*36(1)|p.D207_R213delDDRNTFR(1)|p.D208_V216delDRNTFRHSV(1)|p.D208fs*1(1)|p.N210fs*7(1)|p.R209S(1)|p.R209I(1)|p.R209_R213delRNTFR(1)|p.D207_V216del10(1)|p.R209fs*5(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GAAAAGTGTTTCTGTCATCCAA	0.535		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"Mis, N, F"	tumor protein p53			"L, E, M, O"		"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"	"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"		84	Deletion - Frameshift(51)|Substitution - Missense(14)|Whole gene deletion(8)|Deletion - In frame(5)|Unknown(5)|Insertion - Frameshift(1)	p.R209fs*6(38)|p.0?(8)|p.R209K(7)|p.?(5)|p.R209T(3)|p.R77fs*6(2)|p.R209fs*35(2)|p.D207fs*6(2)|p.R209fs*38(2)|p.R116fs*6(2)|p.R77K(1)|p.R116K(1)|p.E204_N210delEYLDDRN(1)|p.R209fs*36(1)|p.D207_R213delDDRNTFR(1)|p.D208_V216delDRNTFRHSV(1)|p.D208fs*1(1)|p.N210fs*7(1)|p.R209S(1)|p.R209I(1)|p.R209_R213delRNTFR(1)|p.D207_V216del10(1)|p.R209fs*5(1)	biliary_tract(11)|breast(9)|upper_aerodigestive_tract(8)|oesophagus(7)|large_intestine(6)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(5)|prostate(5)|lung(4)|bone(4)|stomach(3)|soft_tissue(3)|ovary(3)|pancreas(3)|salivary_gland(2)|skin(2)|cervix(1)|urinary_tract(1)|liver(1)|thyroid(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185	GRCh37	CD962734	TP53	D		c.(625-627)afs	Other conserved DNA damage response genes	tumor protein p53																																				SO:0001589	frameshift_variant	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578222_7578223delTC	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"Li-Fraumeni syndrome"	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.626_627delGA	17.37:g.7578222_7578223delTC	ENSP00000269305:p.Arg209fs	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_ENST00000269305.4_Frame_Shift_Del_p.R209fs|TP53_ENST00000455263.2_Frame_Shift_Del_p.R209fs|TP53_ENST00000413465.2_Frame_Shift_Del_p.R209fs|TP53_ENST00000359597.4_Frame_Shift_Del_p.R209fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.R209fs|TP53_ENST00000574684.1_Intron	p.R209fs	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	6	758_759	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	209		R -> I (in sporadic cancers; somatic mutation).|R -> K (in sporadic cancers; somatic mutation).|R -> S (in a sporadic cancer; somatic mutation).|R -> T (in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Frame_Shift_Del	DEL	ENST00000269305.4	37	c.626_627delGA	CCDS11118.1																																																																																				0.535	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		17	10						17	10	---	---	---	---	-	7578223	TC	-	7578222	7	5	396	1	0	1	0	1	0	0	0	0	16378	1780	62	0	667	0	TP53	17	7578222	Frame_Shift_Del	DEL	TC	TCGA-V1-A9ZI-01A-11D-A41K-08		7578222	73616988	40	19390											
EMILIN2	84034	broad.mit.edu	37	chr18	2892200	2892200	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggatgcttgtaaggaatgcaCgcagggggtccagagggagg	10	6	19	6	1	0	1	0	0	0	1	1	4	1	4	1	6	2	4	1	6	2	2			TCGA-V1-A9ZI-01A-11D-A41K-08	TCGA-V1-A9ZI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	462042a6-0a40-476a-9ccd-aa55722888da	6162f308-9e45-4bf7-a192-64a636bd36bd	g.chr18:2892200C>T	ENST00000254528.3	+	4	2234	c.2075C>T	c.(2074-2076)aCg>aTg	p.T692M		NM_032048.2	NP_114437.2	Q9BXX0	EMIL2_HUMAN	elastin microfibril interfacer 2	692					cell adhesion (GO:0007155)	collagen trimer (GO:0005581)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix constituent conferring elasticity (GO:0030023)			breast(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(4)	48				READ - Rectum adenocarcinoma(2;0.1)		AAGGAATGCACGCAGGGGGTC	0.577																																						ENST00000254528.3																			0				breast(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(4)	48						c.(2074-2076)aCg>aTg		elastin microfibril interfacer 2							103	109	107					18																	2892200		2203	4300	6503	SO:0001583	missense	84034				cell adhesion	collagen	extracellular matrix constituent conferring elasticity|protein binding	g.chr18:2892200C>T	AF270513	CCDS11828.1	18p11.3	2008-02-05			ENSG00000132205	ENSG00000132205		"EMI domain containing"	19881	protein-coding gene	gene with protein product		608928					Standard	NM_032048		Approved	FLJ33200, FOAP-10	uc002kln.3	Q9BXX0	OTTHUMG00000128525	ENST00000254528.3:c.2075C>T	18.37:g.2892200C>T	ENSP00000254528:p.Thr692Met						p.T692M	NM_032048.2	NP_114437.2	Q9BXX0	EMIL2_HUMAN		READ - Rectum adenocarcinoma(2;0.1)	4	2234	+			692					B2RMY3|Q8NBH3|Q96JQ4	Missense_Mutation	SNP	ENST00000254528.3	37	c.2075C>T	CCDS11828.1	.	.	.	.	.	.	.	.	.	.	C	2.165	-0.391175	0.04932	.	.	ENSG00000132205	ENST00000254528	T	0.34072	1.38	5.48	0.673	0.17941	.	1.012140	0.07909	N	0.973998	T	0.27278	0.0669	N	0.25426	0.745	0.09310	N	1	B	0.29531	0.247	B	0.26094	0.066	T	0.23190	-1.0195	10	0.44086	T	0.13	-1.9919	12.4774	0.55823	0.0:0.7032:0.0:0.2968	.	692	Q9BXX0	EMIL2_HUMAN	M	692	ENSP00000254528:T692M	ENSP00000254528:T692M	T	+	2	0	EMILIN2	2882200	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.676000	0.25247	-0.173000	0.10761	-1.155000	0.01812	ACG		0.577	EMILIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250337.2	NM_032048		3	45	0	0	0	1	0	3	45					T	2892200	C	T	2892200	3	4	396	1	0	0	0	0	1	0	0	0	5094	536	19	1	2089	1	EMILIN2	18	2892200	Missense_Mutation	SNP	C	TCGA-V1-A9ZI-01A-11D-A41K-08		2892200	75185048	41	19391											
LGALS7B	653499	broad.mit.edu	37	chr19	39281377	39281377	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gagcagggctccgatgccgcCctgcatttcaacccccggct	6	7	11	17	3	1	0	1	0	0	0	2	2	2	0	5	2	4	4	5	2	1	1	rs183137923	byFrequency	TCGA-V1-A9ZI-01A-11D-A41K-08	TCGA-V1-A9ZI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	462042a6-0a40-476a-9ccd-aa55722888da	6162f308-9e45-4bf7-a192-64a636bd36bd	g.chr19:39281377C>G	ENST00000314980.4	+	3	160	c.144C>G	c.(142-144)gcC>gcG	p.A48A		NM_001042507.3	NP_001035972.1	P47929	LEG7_HUMAN	lectin, galactoside-binding, soluble, 7B	48	Galectin. {ECO:0000255|PROSITE- ProRule:PRU00639}.				apoptotic process (GO:0006915)|heterophilic cell-cell adhesion (GO:0007157)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	carbohydrate binding (GO:0030246)										CCGATGCCGCCCTGCATTTCA	0.652																																						ENST00000314980.4																			0											c.(142-144)gcC>gcG		lectin, galactoside-binding, soluble, 7B							38	41	40					19																	39281377		2202	4294	6496	SO:0001819	synonymous_variant	653499				apoptosis|heterophilic cell-cell adhesion	cytoplasm|extracellular space|nucleus	sugar binding	g.chr19:39281377C>G		CCDS42565.1	19q13.2	2011-08-04			ENSG00000178934	ENSG00000178934		"Lectins, galactoside-binding"	34447	protein-coding gene	gene with protein product	"galectin 7B"						Standard	NM_001042507		Approved	GAL7	uc002ojf.4	P47929		ENST00000314980.4:c.144C>G	19.37:g.39281377C>G							p.A48A	NM_001042507.3	NP_001035972.1	P47929	LEG7_HUMAN			3	160	+			48			Galectin.		Q6IB87	Silent	SNP	ENST00000314980.4	37	c.144C>G	CCDS42565.1																																																																																				0.652	LGALS7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462638.1			3	50	0	0	0	1	0	3	50					G	39281377	C	G	39281377	2	3	396	1	0	0	0	0	0	0	0	1	8746	610	22	5		5	LGALS7B	19	39281377	Silent	SNP	C	TCGA-V1-A9ZI-01A-11D-A41K-08		39281377	19847606	42	19392											
PPP1R12C	54776	broad.mit.edu	37	chr19	55603825	55603825	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcaccgtcctaaagcctccGtctggctcttccgattctgg	5	11	9	16	4	3	0	0	0	3	0	6	1	6	0	5	2	1	2	5	2	2	3			TCGA-V1-A9ZI-01A-11D-A41K-08	TCGA-V1-A9ZI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	462042a6-0a40-476a-9ccd-aa55722888da	6162f308-9e45-4bf7-a192-64a636bd36bd	g.chr19:55603825G>A	ENST00000263433.3	-	18	2055	c.2040C>T	c.(2038-2040)gaC>gaT	p.D680D	PPP1R12C_ENST00000376393.2_Silent_p.D617D|PPP1R12C_ENST00000435544.2_Silent_p.D605D	NM_001271618.1|NM_017607.2	NP_001258547.1|NP_060077.1			protein phosphatase 1, regulatory subunit 12C											central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	22			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0449)		TAAAGCCTCCGTCTGGCTCTT	0.706																																						ENST00000263433.3																			0				central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	22						c.(2038-2040)gaC>gaT		protein phosphatase 1, regulatory subunit 12C							22	25	24					19																	55603825		2194	4298	6492	SO:0001819	synonymous_variant	54776					cytoplasm		g.chr19:55603825G>A	AF312028	CCDS12916.1	19q13.42	2013-01-10	2011-10-04		ENSG00000125503	ENSG00000125503		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "Ankyrin repeat domain containing"	14947	protein-coding gene	gene with protein product	"myosin-binding subunit 85"	613245	"leukocyte receptor cluster (LRC) member 3", "protein phosphatase 1, regulatory (inhibitor) subunit 12C"	LENG3		11399775	Standard	NM_017607		Approved	DKFZP434D0412, p84, MBS85, p85	uc002qix.4	Q9BZL4		ENST00000263433.3:c.2040C>T	19.37:g.55603825G>A						PPP1R12C_ENST00000376393.2_Silent_p.D617D|PPP1R12C_ENST00000435544.2_Silent_p.D605D	p.D680D	NM_001271618.1|NM_017607.2	NP_001258547.1|NP_060077.1	Q9BZL4	PP12C_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0449)	18	2055	-			680						Silent	SNP	ENST00000263433.3	37	c.2040C>T	CCDS12916.1																																																																																				0.706	PPP1R12C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451814.2	NM_017607		7	5	0	0	0	1	0	7	5					A	55603825	G	A	55603825	2	1	396	1	0	0	0	0	0	0	0	1	12356	1136	40	1		1	PPP1R12C	19	55603825	Silent	SNP	G	TCGA-V1-A9ZI-01A-11D-A41K-08	16322448	55603825	3525158	43	19393											
CDC25B	994	broad.mit.edu	37	chr20	3781733	3781735	+	In_Frame_Del	DEL	ACC	ACC	-																															gagacccagctcggcccccgAcctgatggtacatccagaga																										TCGA-V1-A9ZI-01A-11D-A41K-08	TCGA-V1-A9ZI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	462042a6-0a40-476a-9ccd-aa55722888da	6162f308-9e45-4bf7-a192-64a636bd36bd	g.chr20:3781733_3781735delACC	ENST00000245960.5	+	7	1395_1397	c.698_700delACC	c.(697-702)gacctg>gtg	p.233_234DL>V	CDC25B_ENST00000340833.4_In_Frame_Del_p.192_193DL>V|CDC25B_ENST00000439880.2_In_Frame_Del_p.219_220DL>V|CDC25B_ENST00000379598.5_In_Frame_Del_p.169_170DL>V|CDC25B_ENST00000344256.6_In_Frame_Del_p.169_170DL>V|CDC25B_ENST00000467519.1_3'UTR	NM_004358.3|NM_021872.2|NM_021873.2	NP_004349.1|NP_068658.1|NP_068659.1	P30305	MPIP2_HUMAN	cell division cycle 25B	233					female meiosis I (GO:0007144)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|oocyte maturation (GO:0001556)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokinesis (GO:0032467)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of protein kinase activity (GO:0045860)|protein phosphorylation (GO:0006468)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle pole (GO:0000922)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)			NS(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(1)	18						TCGGCCCCCGACCTGATGGTACA	0.65																																						ENST00000245960.5																			0				NS(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(1)	18						c.(697-702)gtg>g		cell division cycle 25B																																				SO:0001651	inframe_deletion	994				cell division|G2/M transition of mitotic cell cycle|mitosis|positive regulation of cell proliferation	cytosol|microtubule organizing center|nucleoplasm	protein binding|protein tyrosine phosphatase activity	g.chr20:3781733_3781735delACC		CCDS13065.1, CCDS13066.1, CCDS13067.1, CCDS74700.1, CCDS74701.1	20p13	2013-01-17	2013-01-17		ENSG00000101224	ENSG00000101224		"Protein tyrosine phosphatases / Class III Cys-based PTPs"	1726	protein-coding gene	gene with protein product		116949	"cell division cycle 25B", "cell division cycle 25 homolog B (S. cerevisiae)", "cell division cycle 25 homolog B (S. pombe)"			1836978	Standard	NM_021873		Approved		uc002wjn.3	P30305	OTTHUMG00000031764	ENST00000245960.5:c.698_700delACC	20.37:g.3781733_3781735delACC	ENSP00000245960:p.Asp233_Leu234delinsVal					CDC25B_ENST00000467519.1_3'UTR|CDC25B_ENST00000379598.5_In_Frame_Del_p.DL169del|CDC25B_ENST00000340833.4_In_Frame_Del_p.DL192del|CDC25B_ENST00000439880.2_In_Frame_Del_p.DL219del|CDC25B_ENST00000344256.6_In_Frame_Del_p.DL169del	p.DL233del	NM_004358.3|NM_021872.2|NM_021873.2	NP_004349.1|NP_068658.1|NP_068659.1	P30305	MPIP2_HUMAN			7	1395_1397	+			233					D3DVY1|D3DVY2|D3DVY3|D3DVY4|O43551|Q13971|Q5JX77|Q6RSS1|Q9BRA6	In_Frame_Del	DEL	ENST00000245960.5	37	c.698_700delACC	CCDS13067.1																																																																																				0.65	CDC25B-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077779.2	NM_021874		13	30						13	30	---	---	---	---	-	3781735	ACC	-	3781733	7	5	396	1	0	1	0	1	0	0	0	0	3063	275	10	0	724	0	CDC25B	20	3781733	In_Frame_Del	DEL	ACC	TCGA-V1-A9ZI-01A-11D-A41K-08		3781733	59243787	44	19394											
C20orf186	149954	broad.mit.edu	37	chr20	31682956	31682956	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acactgggagccctgatcccCaaggtatgtaaggtgggcag	10	7	14	10	0	0	1	0	1	0	0	1	2	1	2	3	4	1	3	3	4	3	2	rs200712639		TCGA-V1-A9ZI-01A-11D-A41K-08	TCGA-V1-A9ZI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	462042a6-0a40-476a-9ccd-aa55722888da	6162f308-9e45-4bf7-a192-64a636bd36bd	g.chr20:31682956C>A	ENST00000375483.3	+	10	1395	c.1395C>A	c.(1393-1395)ccC>ccA	p.P465P		NM_182519.2	NP_872325.2	P59827	BPIB4_HUMAN	BPI fold containing family B, member 4	465						cytoplasm (GO:0005737)|extracellular region (GO:0005576)	lipid binding (GO:0008289)										CCCTGATCCCCAAGGTATGTA	0.532																																						ENST00000375483.3																			0											c.(1393-1395)ccC>ccA		BPI fold containing family B, member 4							205	193	197					20																	31682956		2203	4300	6503	SO:0001819	synonymous_variant	149954					cytoplasm|extracellular region	lipid binding	g.chr20:31682956C>A	AF549190	CCDS13213.2	20q11.21	2011-08-04	2011-07-29	2011-07-29	ENSG00000186191	ENSG00000186191		"BPI fold containing"	16179	protein-coding gene	gene with protein product		615718	"chromosome 20 open reading frame 186"	C20orf186		11971875, 21787333	Standard	NM_182519		Approved	dJ726C3.5, LPLUNC4	uc010zue.2	P59827	OTTHUMG00000032235	ENST00000375483.3:c.1395C>A	20.37:g.31682956C>A							p.P465P	NM_182519.2	NP_872325.2	P59827	LPLC4_HUMAN			10	1395	+			465					Q5TDX6	Silent	SNP	ENST00000375483.3	37	c.1395C>A	CCDS13213.2																																																																																				0.532	BPIFB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078655.5	NM_182519		6	74	1	0	5.9392e-07	1	6.17677e-07	6	74					A	31682956	C	A	31682956	2	1	396	1	0	0	0	0	0	0	0	1	2098	581	21	5		5	C20orf186	20	31682956	Silent	SNP	C	TCGA-V1-A9ZI-01A-11D-A41K-08	27901223	31682956	31342564	45	19395											
XKR3	150165	broad.mit.edu	37	chr22	17280821	17280821	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcaatctccctttccagcatCgtgtttctctttgtgatgct	5	17	7	12	1	2	1	0	1	2	0	6	1	3	1	2	0	2	4	2	0	1	3			TCGA-V1-A9ZI-01A-11D-A41K-08	TCGA-V1-A9ZI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	462042a6-0a40-476a-9ccd-aa55722888da	6162f308-9e45-4bf7-a192-64a636bd36bd	g.chr22:17280821C>T	ENST00000331428.5	-	3	531	c.429G>A	c.(427-429)acG>acA	p.T143T		NM_175878.3	NP_787074.2	Q5GH77	XKR3_HUMAN	XK, Kell blood group complex subunit-related family, member 3	143			T -> M (in dbSNP:rs5748648).			integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(6)|ovary(1)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				TTTCCAGCATCGTGTTTCTCT	0.403																																						ENST00000331428.5																			0				central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(6)|ovary(1)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(427-429)acG>acA		XK, Kell blood group complex subunit-related family, member 3							228	205	212					22																	17280821		1896	4131	6027	SO:0001819	synonymous_variant	150165					integral to membrane|plasma membrane		g.chr22:17280821C>T	AY989815	CCDS42975.1	22q11.1	2007-01-16	2006-01-12		ENSG00000172967	ENSG00000172967			28778	protein-coding gene	gene with protein product		611674	"X Kell blood group precursor-related family, member 3"			16431037	Standard	NM_175878		Approved	MGC57211, XTES	uc002zlv.3	Q5GH77	OTTHUMG00000143726	ENST00000331428.5:c.429G>A	22.37:g.17280821C>T							p.T143T	NM_175878.3	NP_787074.2	Q5GH77	XKR3_HUMAN			3	531	-	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)	143		T -> M (in dbSNP:rs5748648).			B2RPN1|Q52PG8|Q8N7E1	Silent	SNP	ENST00000331428.5	37	c.429G>A	CCDS42975.1																																																																																				0.403	XKR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000289789.1	NM_175878		22	39	0	0	0	1	0	22	39					T	17280821	C	T	17280821	2	4	396	1	0	0	0	0	0	0	0	1	17429	871	31	2		2	XKR3	22	17280821	Silent	SNP	C	TCGA-V1-A9ZI-01A-11D-A41K-08		17280821	34023745	46	19396											
MYO18B	84700	broad.mit.edu	37	chr22	26222374	26222374	+	Splice_Site	DEL	A	A	-																															ctgattctgtcctctttcccAgggctcaagatgacaggagt																										TCGA-V1-A9ZI-01A-11D-A41K-08	TCGA-V1-A9ZI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	462042a6-0a40-476a-9ccd-aa55722888da	6162f308-9e45-4bf7-a192-64a636bd36bd	g.chr22:26222374delA	ENST00000407587.2	+	14	2864		c.e14-1		MYO18B_ENST00000335473.7_Splice_Site|MYO18B_ENST00000536101.1_Splice_Site			Q8IUG5	MY18B_HUMAN	myosin XVIIIB							cytoplasm (GO:0005737)|nucleus (GO:0005634)|unconventional myosin complex (GO:0016461)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						CCTCTTTCCCAGGGCTCAAGA	0.537																																						ENST00000335473.7																			0				NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						c.e14-1		myosin XVIIIB							134	131	132					22																	26222374		1961	4142	6103	SO:0001630	splice_region_variant	84700					nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity	g.chr22:26222374delA	AJ310931	CCDS54507.1	22q12.1	2011-09-27			ENSG00000133454	ENSG00000133454		"Myosins / Myosin superfamily : Class XVIII"	18150	protein-coding gene	gene with protein product		607295				12209013, 12547197	Standard	NM_032608		Approved	BK125H2.1	uc003abz.1	Q8IUG5	OTTHUMG00000151129	ENST00000407587.2:c.2696-1A>-	22.37:g.26222374delA						MYO18B_ENST00000407587.2_Splice_Site|MYO18B_ENST00000536101.1_Splice_Site		NM_032608.5	NP_115997.5	Q8IUG5	MY18B_HUMAN			14	2945	+								B2RWP3|F5GYU7|Q8NDI8|Q8TE65|Q8WWS0|Q96KH2|Q96KR8|Q96KR9	Splice_Site	DEL	ENST00000407587.2	37																																																																																						0.537	MYO18B-006	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000400691.1	NM_032608	Intron	44	33						44	33	---	---	---	---	-	26222374	A	-	26222374	8	5	396	1	0	1	0	1	0	0	1	0	10066	202	7	0	2744	0	MYO18B	22	26222374	Splice_Site	DEL	A	TCGA-V1-A9ZI-01A-11D-A41K-08	8941553	26222374	25082192	47	19397											
PQLC2	54896	broad.mit.edu	37	chr1	19653727	19653727	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctcctgccccagttcctcCggaagtccacccaggggatc	6	8	9	18	1	0	0	0	0	0	0	6	2	5	2	8	3	1	1	8	3	1	1			TCGA-V1-A9ZK-01A-11D-A41K-08	TCGA-V1-A9ZK-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3bf64ed-fc4c-48cf-bc4a-ade574edd020	e30e3059-aeee-4637-94d2-78520add854e	g.chr1:19653727C>T	ENST00000375153.3	+	7	1265	c.625C>T	c.(625-627)Cgg>Tgg	p.R209W	PQLC2_ENST00000400548.2_Missense_Mutation_p.R144W|PQLC2_ENST00000375155.3_Missense_Mutation_p.R209W	NM_001040125.1	NP_001035214.1	Q6ZP29	LAAT1_HUMAN	PQ loop repeat containing 2	209	PQ-loop 2.				amino acid homeostasis (GO:0080144)|arginine transport (GO:0015809)|lysine transport (GO:0015819)	integral component of organelle membrane (GO:0031301)|lysosomal membrane (GO:0005765)	arginine transmembrane transporter activity (GO:0015181)|basic amino acid transmembrane transporter activity (GO:0015174)|L-lysine transmembrane transporter activity (GO:0015189)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|skin(1)|urinary_tract(1)	10		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00049)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;1.89e-05)|Kidney(64;0.000177)|GBM - Glioblastoma multiforme(114;0.00124)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		CCAGTTCCTCCGGAAGTCCAC	0.597																																						ENST00000375153.3																			0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|skin(1)|urinary_tract(1)	10						c.(625-627)Cgg>Tgg		PQ loop repeat containing 2							64	63	64					1																	19653727		2203	4300	6503	SO:0001583	missense	54896					integral to membrane		g.chr1:19653727C>T	BC015324	CCDS195.2, CCDS30618.1	1p36.13	2013-10-11			ENSG00000040487	ENSG00000040487			26001	protein-coding gene	gene with protein product		614760				23169667	Standard	XM_005245915		Approved	FLJ20320	uc001bby.3	Q6ZP29	OTTHUMG00000002521	ENST00000375153.3:c.625C>T	1.37:g.19653727C>T	ENSP00000364295:p.Arg209Trp					PQLC2_ENST00000400548.2_Missense_Mutation_p.R144W|PQLC2_ENST00000375155.3_Missense_Mutation_p.R209W	p.R209W	NM_001040125.1	NP_001035214.1	Q6ZP29	PQLC2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;1.89e-05)|Kidney(64;0.000177)|GBM - Glioblastoma multiforme(114;0.00124)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	7	1265	+		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00049)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)	209			PQ-loop 2.		B3KWQ5|Q6ZMJ3|Q6ZP27|Q9NXC7	Missense_Mutation	SNP	ENST00000375153.3	37	c.625C>T	CCDS195.2	.	.	.	.	.	.	.	.	.	.	C	15.79	2.936925	0.52972	.	.	ENSG00000040487	ENST00000375155;ENST00000375153;ENST00000400548	D;D;D	0.98876	-5.2;-5.2;-5.2	5.16	3.07	0.35406	.	0.000000	0.85682	D	0.000000	D	0.99272	0.9746	H	0.95611	3.695	0.58432	D	0.999996	D	0.89917	1.0	D	0.97110	1.0	D	0.99066	1.0832	10	0.87932	D	0	-15.7328	10.9793	0.47483	0.604:0.396:0.0:0.0	.	209	Q6ZP29	PQLC2_HUMAN	W	209;209;144	ENSP00000364297:R209W;ENSP00000364295:R209W;ENSP00000383395:R144W	ENSP00000364295:R209W	R	+	1	2	PQLC2	19526314	1.000000	0.71417	1.000000	0.80357	0.295000	0.27426	2.321000	0.43805	1.135000	0.42183	0.484000	0.47621	CGG		0.597	PQLC2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007255.1	NM_017765		7	49	0	0	0	1	0	7	49					T	19653727	C	T	19653727	3	4	397	1	0	0	0	0	1	0	0	0	12419	643	23	2	647	2	PQLC2	1	19653727	Missense_Mutation	SNP	C	TCGA-V1-A9ZK-01A-11D-A41K-08		19653727	229596894	1	19398											
MACF1	23499	broad.mit.edu	37	chr1	39781228	39781228	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	attgaggtcagacttggatgCagtttctatgaaatgtgaca	12	13	11	5	0	2	4	1	3	1	1	2	5	2	5	0	2	1	2	0	2	2	4			TCGA-V1-A9ZK-01A-11D-A41K-08	TCGA-V1-A9ZK-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3bf64ed-fc4c-48cf-bc4a-ade574edd020	e30e3059-aeee-4637-94d2-78520add854e	g.chr1:39781228C>T	ENST00000372915.3	+	26	3416	c.3329C>T	c.(3328-3330)gCa>gTa	p.A1110V	MACF1_ENST00000476350.1_3'UTR|MACF1_ENST00000567887.1_Missense_Mutation_p.A1142V|MACF1_ENST00000564288.1_Missense_Mutation_p.A1105V|MACF1_ENST00000545844.1_Missense_Mutation_p.A1110V|MACF1_ENST00000361689.2_Missense_Mutation_p.A1110V|MACF1_ENST00000539005.1_Missense_Mutation_p.A1110V|MACF1_ENST00000317713.7_Missense_Mutation_p.A1110V			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	1110					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			GACTTGGATGCAGTTTCTATG	0.453																																						ENST00000564288.1																			0				breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203						c.(3313-3315)gCa>gTa		microtubule-actin crosslinking factor 1							167	163	164					1																	39781228		2203	4300	6503	SO:0001583	missense	23499				cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding	g.chr1:39781228C>T	AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"EF-hand domain containing"	13664	protein-coding gene	gene with protein product	"actin cross-linking factor", "620 kDa actin binding protein", "macrophin 1", "trabeculin-alpha", "actin cross-linking family protein 7"	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.3329C>T	1.37:g.39781228C>T	ENSP00000362006:p.Ala1110Val					MACF1_ENST00000317713.7_Missense_Mutation_p.A1110V|MACF1_ENST00000372915.3_Missense_Mutation_p.A1110V|MACF1_ENST00000545844.1_Missense_Mutation_p.A1110V|MACF1_ENST00000539005.1_Missense_Mutation_p.A1110V|MACF1_ENST00000476350.1_3'UTR|MACF1_ENST00000567887.1_Missense_Mutation_p.A1142V|MACF1_ENST00000361689.2_Missense_Mutation_p.A1110V	p.A1105V			Q9UPN3	MACF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)		27	4091	+	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	1110					B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Missense_Mutation	SNP	ENST00000372915.3	37	c.3314C>T		.	.	.	.	.	.	.	.	.	.	C	8.915	0.959730	0.18507	.	.	ENSG00000127603	ENST00000545844;ENST00000372915;ENST00000361689;ENST00000317713;ENST00000539005;ENST00000524432;ENST00000530262	T;T;T;T;T;D;D	0.87966	-0.12;-0.05;-0.12;-0.16;0.04;-2.05;-2.32	6.02	4.0	0.46444	.	.	.	.	.	T	0.66046	0.2750	N	0.03608	-0.345	0.09310	N	0.999999	B;B;B	0.30634	0.106;0.288;0.082	B;B;B	0.27380	0.055;0.079;0.053	T	0.55321	-0.8159	9	0.28530	T	0.3	.	1.0227	0.01521	0.3522:0.2911:0.1936:0.1632	.	1110;1110;1075	F8W8Q1;Q9UPN3-2;Q9UPN3-3	.;.;.	V	1110;1110;1110;1110;1110;1068;1259	ENSP00000439537:A1110V;ENSP00000362006:A1110V;ENSP00000354573:A1110V;ENSP00000313438:A1110V;ENSP00000444364:A1110V;ENSP00000435070:A1068V;ENSP00000437059:A1259V	ENSP00000313438:A1110V	A	+	2	0	MACF1	39553815	0.408000	0.25360	0.998000	0.56505	0.711000	0.40976	1.534000	0.36051	1.477000	0.48234	0.650000	0.86243	GCA		0.453	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1	NM_033044		20	97	0	0	0	1	0	20	97					T	39781228	C	T	39781228	3	4	397	1	0	0	0	0	1	0	0	0	9144	710	25	3	3431	3	MACF1	1	39781228	Missense_Mutation	SNP	C	TCGA-V1-A9ZK-01A-11D-A41K-08	20127501	39781228	209469393	2	19399											
KCNC4	3749	broad.mit.edu	37	chr1	110768691	110768691	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctccccgacccccgaggaGcgccgggccctgcgacgctc	4	4	12	21	6	0	0	0	0	0	0	3	4	2	1	7	2	2	1	7	2	0	0			TCGA-V1-A9ZK-01A-11D-A41K-08	TCGA-V1-A9ZK-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3bf64ed-fc4c-48cf-bc4a-ade574edd020	e30e3059-aeee-4637-94d2-78520add854e	g.chr1:110768691G>A	ENST00000369787.3	+	3	1737	c.1710G>A	c.(1708-1710)gaG>gaA	p.E570E	KCNC4_ENST00000438661.2_Silent_p.E570E|KCNC4_ENST00000413138.3_Silent_p.E570E|KCNC4_ENST00000412512.2_Intron	NM_004978.4	NP_004969.2	Q03721	KCNC4_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 4	570					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of neurotransmitter secretion (GO:0046928)|synaptic transmission (GO:0007268)	axon terminus (GO:0043679)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)			central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(2)|lung(11)|ovary(1)|skin(2)	32		all_cancers(81;9.88e-06)|all_epithelial(167;3.23e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0238)|all cancers(265;0.0693)|Epithelial(280;0.0748)|Colorectal(144;0.112)|LUSC - Lung squamous cell carcinoma(189;0.135)		CCCCCGAGGAGCGCCGGGCCC	0.637																																						ENST00000369787.3																			0				central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(2)|lung(11)|ovary(1)|skin(2)	32						c.(1708-1710)gaG>gaA		potassium voltage-gated channel, Shaw-related subfamily, member 4							51	57	55					1																	110768691		2203	4300	6503	SO:0001819	synonymous_variant	3749				synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr1:110768691G>A	BC101769	CCDS821.1, CCDS44193.1	1p21	2012-07-05			ENSG00000116396	ENSG00000116396		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6236	protein-coding gene	gene with protein product		176265	"chromosome 1 open reading frame 30"	C1orf30		1920536, 1740329, 16382104	Standard	NM_004978		Approved	Kv3.4, HKSHIIIC	uc001dzh.3	Q03721	OTTHUMG00000011037	ENST00000369787.3:c.1710G>A	1.37:g.110768691G>A						KCNC4_ENST00000412512.2_Intron|KCNC4_ENST00000413138.3_Silent_p.E570E|KCNC4_ENST00000438661.2_Silent_p.E570E	p.E570E	NM_004978.4	NP_004969.2	Q03721	KCNC4_HUMAN		Lung(183;0.0238)|all cancers(265;0.0693)|Epithelial(280;0.0748)|Colorectal(144;0.112)|LUSC - Lung squamous cell carcinoma(189;0.135)	3	1737	+		all_cancers(81;9.88e-06)|all_epithelial(167;3.23e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)	570					Q3MIM4|Q5TBI6	Silent	SNP	ENST00000369787.3	37	c.1710G>A	CCDS821.1																																																																																				0.637	KCNC4-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000052146.2	NM_001039574		9	47	0	0	0	1	0	9	47					A	110768691	G	A	110768691	2	1	397	1	0	0	0	0	0	0	0	1	8017	962	34	3		3	KCNC4	1	110768691	Silent	SNP	G	TCGA-V1-A9ZK-01A-11D-A41K-08	70987463	110768691	138481930	3	19400											
SH2D2A	9047	broad.mit.edu	37	chr1	156777073	156777073	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccaggcgggtgggggctggTggggcaggggagggccttgc	3	6	24	8	1	0	0	0	0	0	0	1	1	1	1	2	10	1	2	2	10	0	1			TCGA-V1-A9ZK-01A-11D-A41K-08	TCGA-V1-A9ZK-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3bf64ed-fc4c-48cf-bc4a-ade574edd020	e30e3059-aeee-4637-94d2-78520add854e	g.chr1:156777073T>G	ENST00000368199.3	-	8	1220	c.1067A>C	c.(1066-1068)cAc>cCc	p.H356P	SH2D2A_ENST00000368198.3_Missense_Mutation_p.H338P|SH2D2A_ENST00000392306.2_Missense_Mutation_p.H366P	NM_001161443.1|NM_001161444.1|NM_003975.3	NP_001154915.1|NP_001154916.1|NP_003966.2	Q9NP31	SH22A_HUMAN	SH2 domain containing 2A	356	Pro-rich.				angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|positive regulation of signal transduction (GO:0009967)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	SH3/SH2 adaptor activity (GO:0005070)			endometrium(1)|large_intestine(2)|lung(15)	18	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					TGGGGGCTGGTGGGGCAGGGG	0.597																																						ENST00000392306.2																			0				endometrium(1)|large_intestine(2)|lung(15)	18						c.(1096-1098)cAc>cCc		SH2 domain containing 2A							16	18	17					1																	156777073		2201	4299	6500	SO:0001583	missense	9047				angiogenesis|cell differentiation|signal transduction	cytoplasm|soluble fraction	SH3 domain binding|SH3/SH2 adaptor activity	g.chr1:156777073T>G	AJ000553	CCDS1159.1, CCDS53380.1, CCDS53381.1	1q21	2013-02-14	2010-04-21		ENSG00000027869	ENSG00000027869		"SH2 domain containing"	10821	protein-coding gene	gene with protein product	"T lymphocyte specific adaptor protein", "T cell specific adapter protein TSAd", "T cell specific adpater protein TSAd"	604514	"SH2 domain protein 2A"			9468509	Standard	NM_003975		Approved	TSAd, F2771	uc009wsh.2	Q9NP31	OTTHUMG00000041305	ENST00000368199.3:c.1067A>C	1.37:g.156777073T>G	ENSP00000357182:p.His356Pro					SH2D2A_ENST00000368198.3_Missense_Mutation_p.H338P|SH2D2A_ENST00000368199.3_Missense_Mutation_p.H356P	p.H366P	NM_001161441.1	NP_001154913.1	Q9NP31	SH22A_HUMAN			8	1236	-	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)		356			Pro-rich.		O43817|Q5UBZ1|Q5VZS4|Q5VZS5|Q9UPA7	Missense_Mutation	SNP	ENST00000368199.3	37	c.1097A>C	CCDS1159.1	.	.	.	.	.	.	.	.	.	.	T	7.673	0.687372	0.14973	.	.	ENSG00000027869	ENST00000368199;ENST00000368198;ENST00000392306	T;T;T	0.57107	0.45;0.42;0.87	4.24	1.63	0.23807	.	2.261830	0.01799	N	0.032797	T	0.21761	0.0524	L	0.27053	0.805	0.09310	N	1	P;B;B	0.35982	0.531;0.396;0.396	B;B;B	0.37833	0.259;0.133;0.094	T	0.18650	-1.0330	10	0.49607	T	0.09	-4.3545	4.3832	0.11304	0.2016:0.0:0.2094:0.5889	.	366;338;356	Q9NP31-2;Q5VZS4;Q9NP31	.;.;SH22A_HUMAN	P	356;338;366	ENSP00000357182:H356P;ENSP00000357181:H338P;ENSP00000376123:H366P	ENSP00000357181:H338P	H	-	2	0	SH2D2A	155043697	0.049000	0.20398	0.024000	0.17045	0.664000	0.39144	0.065000	0.14466	0.745000	0.32763	0.374000	0.22700	CAC		0.597	SH2D2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000098982.1	NM_003975		4	12	0	0	0	1	0	4	12					G	156777073	T	G	156777073	3	3	397	1	0	0	0	0	1	0	0	0	14232	1696	59	5	106	5	SH2D2A	1	156777073	Missense_Mutation	SNP	T	TCGA-V1-A9ZK-01A-11D-A41K-08	46008382	156777073	92473548	4	19401											
NUDT12	83594	broad.mit.edu	37	chr5	102887965	102887965	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctctatttcattcttgtcaaCtttaatttctgtagacactg	9	19	4	9	0	5	1	2	0	3	1	5	1	5	1	0	0	1	1	0	0	4	8			TCGA-V1-A9ZK-01A-11D-A41K-08	TCGA-V1-A9ZK-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3bf64ed-fc4c-48cf-bc4a-ade574edd020	e30e3059-aeee-4637-94d2-78520add854e	g.chr5:102887965C>A	ENST00000230792.2	-	6	1327	c.1231G>T	c.(1231-1233)Gtt>Ttt	p.V411F	NUDT12_ENST00000507423.1_Missense_Mutation_p.V393F|NUDT12_ENST00000515407.1_5'Flank	NM_031438.2	NP_113626.1	Q9BQG2	NUD12_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 12	411	Nudix hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00794}.				NAD catabolic process (GO:0019677)|NADP catabolic process (GO:0006742)	nucleus (GO:0005634)|peroxisome (GO:0005777)	metal ion binding (GO:0046872)|NAD+ diphosphatase activity (GO:0000210)|NADH pyrophosphatase activity (GO:0035529)			endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(6)|urinary_tract(1)	12		all_cancers(142;6.38e-08)|all_epithelial(76;1.99e-10)|Prostate(80;0.0138)|Lung NSC(167;0.0212)|Colorectal(57;0.0247)|all_lung(232;0.0283)|Ovarian(225;0.0423)		Epithelial(69;9.3e-13)|COAD - Colon adenocarcinoma(37;0.0221)		TTCTTGTCAACTTTAATTTCT	0.403																																						ENST00000230792.2																			0				endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(6)|urinary_tract(1)	12						c.(1231-1233)Gtt>Ttt		nudix (nucleoside diphosphate linked moiety X)-type motif 12							171	161	164					5																	102887965		2202	4300	6502	SO:0001583	missense	83594					nucleus|peroxisome	metal ion binding|NAD+ diphosphatase activity	g.chr5:102887965C>A	AL136592	CCDS4096.1, CCDS75284.1	5q15	2013-01-10			ENSG00000112874	ENSG00000112874		"Nudix motif containing", "Ankyrin repeat domain containing"	18826	protein-coding gene	gene with protein product	"nucleoside diphosphate linked moiety X-type motif 12"	609232				11230166	Standard	XM_005272095		Approved	DKFZP761I172	uc003koi.3	Q9BQG2	OTTHUMG00000128739	ENST00000230792.2:c.1231G>T	5.37:g.102887965C>A	ENSP00000230792:p.Val411Phe					NUDT12_ENST00000507423.1_Missense_Mutation_p.V393F	p.V411F	NM_031438.2	NP_113626.1	Q9BQG2	NUD12_HUMAN		Epithelial(69;9.3e-13)|COAD - Colon adenocarcinoma(37;0.0221)	6	1327	-		all_cancers(142;6.38e-08)|all_epithelial(76;1.99e-10)|Prostate(80;0.0138)|Lung NSC(167;0.0212)|Colorectal(57;0.0247)|all_lung(232;0.0283)|Ovarian(225;0.0423)	411			Nudix hydrolase.		B3KUW2|Q8TAL7	Missense_Mutation	SNP	ENST00000230792.2	37	c.1231G>T	CCDS4096.1	.	.	.	.	.	.	.	.	.	.	C	28.3	4.905670	0.92107	.	.	ENSG00000112874	ENST00000230792;ENST00000507423	T;T	0.08008	3.14;3.14	5.76	5.76	0.90799	NUDIX hydrolase domain (3);NUDIX hydrolase domain-like (1);	0.051376	0.85682	D	0.000000	T	0.29524	0.0736	M	0.64997	1.995	0.80722	D	1	D;P	0.76494	0.999;0.885	D;P	0.75484	0.986;0.688	T	0.00259	-1.1870	10	0.87932	D	0	-28.9781	19.9664	0.97271	0.0:1.0:0.0:0.0	.	393;411	E7EM93;Q9BQG2	.;NUD12_HUMAN	F	411;393	ENSP00000230792:V411F;ENSP00000424521:V393F	ENSP00000230792:V411F	V	-	1	0	NUDT12	102915864	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.487000	0.81328	2.724000	0.93272	0.650000	0.86243	GTT		0.403	NUDT12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250650.1	NM_031438		3	34	1	0	1	1	1	3	34					A	102887965	C	A	102887965	3	1	397	1	0	0	0	0	1	0	0	0	10728	565	20	5	165	5	NUDT12	5	102887965	Missense_Mutation	SNP	C	TCGA-V1-A9ZK-01A-11D-A41K-08		102887965	78027295	5	19402											
ODZ2	57451	broad.mit.edu	37	chr5	167553796	167553796	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgtggcactcacggcgtctgCatcgggggagcctgccgctg	4	8	16	13	4	2	0	1	0	1	0	3	1	2	1	2	4	3	3	2	4	0	0			TCGA-V1-A9ZK-01A-11D-A41K-08	TCGA-V1-A9ZK-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3bf64ed-fc4c-48cf-bc4a-ade574edd020	e30e3059-aeee-4637-94d2-78520add854e	g.chr5:167553796C>A	ENST00000518659.1	+	12	2286	c.2247C>A	c.(2245-2247)tgC>tgA	p.C749*	TENM2_ENST00000519204.1_Nonsense_Mutation_p.C628*|TENM2_ENST00000545108.1_Nonsense_Mutation_p.C749*|TENM2_ENST00000403607.2_Nonsense_Mutation_p.C582*|CTB-178M22.1_ENST00000517408.1_RNA|TENM2_ENST00000520394.1_Nonsense_Mutation_p.C517*	NM_001122679.1	NP_001116151.1	Q9NT68	TEN2_HUMAN	teneurin transmembrane protein 2	749	EGF-like 6. {ECO:0000255|PROSITE- ProRule:PRU00076}.				axon guidance (GO:0007411)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|heterophilic cell-cell adhesion (GO:0007157)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of filopodium assembly (GO:0051491)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cell-cell junction (GO:0005911)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|endoplasmic reticulum (GO:0005783)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)										ACGGCGTCTGCATCGGGGGAG	0.582																																						ENST00000519204.1																			0											c.(1882-1884)tgC>tgA		teneurin transmembrane protein 2							35	41	39					5																	167553796		2031	4173	6204	SO:0001587	stop_gained	57451							g.chr5:167553796C>A	AB032953		5q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000145934	ENSG00000145934			29943	protein-coding gene	gene with protein product		610119	"odz, odd Oz/ten-m homolog 2 (Drosophila)"	ODZ2		10625539	Standard	NM_001122679		Approved	KIAA1127, Ten-M2	uc010jjd.3	Q9NT68	OTTHUMG00000162928	ENST00000518659.1:c.2247C>A	5.37:g.167553796C>A	ENSP00000429430:p.Cys749*					CTB-178M22.1_ENST00000517408.1_RNA|TENM2_ENST00000545108.1_Nonsense_Mutation_p.C749*|TENM2_ENST00000518659.1_Nonsense_Mutation_p.C749*|TENM2_ENST00000520394.1_Nonsense_Mutation_p.C517*|TENM2_ENST00000403607.2_Nonsense_Mutation_p.C582*	p.C628*							11	2002	+								Q9ULU2	Nonsense_Mutation	SNP	ENST00000518659.1	37	c.1884C>A		.	.	.	.	.	.	.	.	.	.	C	40	7.995026	0.98599	.	.	ENSG00000145934	ENST00000518659;ENST00000545108;ENST00000519204;ENST00000520394;ENST00000403607	.	.	.	5.5	5.5	0.81552	.	0.089045	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.7664	0.96346	0.0:1.0:0.0:0.0	.	.	.	.	X	749;749;628;517;582	.	ENSP00000384905:C582X	C	+	3	2	ODZ2	167486374	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.115000	0.50391	2.735000	0.93741	0.655000	0.94253	TGC		0.582	TENM2-001	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000376096.1	NM_001122679		3	18	1	0	0.115264	1	0.128824	3	18					A	167553796	C	A	167553796	4	1	397	1	0	0	0	0	0	1	0	0	10835	718	25	5	2293	5	ODZ2	5	167553796	Nonsense_Mutation	SNP	C	TCGA-V1-A9ZK-01A-11D-A41K-08	64665831	167553796	13361464	6	19403											
FAM193B	54540	broad.mit.edu	37	chr5	176952083	176952083	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gctgctcaggaagctgttgaCccgatccagttcccggtcgg	6	9	13	13	3	1	1	1	1	0	0	4	3	3	2	3	3	2	5	3	3	1	2	rs563761633		TCGA-V1-A9ZK-01A-11D-A41K-08	TCGA-V1-A9ZK-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3bf64ed-fc4c-48cf-bc4a-ade574edd020	e30e3059-aeee-4637-94d2-78520add854e	g.chr5:176952083C>A	ENST00000514747.1	-	6	1447	c.1399G>T	c.(1399-1401)Gtc>Ttc	p.V467F	FAM193B_ENST00000443375.2_Missense_Mutation_p.V434F|FAM193B_ENST00000329540.5_Missense_Mutation_p.V93F|FAM193B_ENST00000508298.1_5'Flank	NM_001190946.1	NP_001177875.1	Q96PV7	F193B_HUMAN	family with sequence similarity 193, member B	547						cytoplasm (GO:0005737)|nucleus (GO:0005634)				kidney(1)|large_intestine(3)	4						AAGCTGTTGACCCGATCCAGT	0.567																																						ENST00000329540.5																			0				kidney(1)|large_intestine(3)	4						c.(277-279)Gtc>Ttc		family with sequence similarity 193, member B							68	71	70					5																	176952083		1987	4155	6142	SO:0001583	missense	54540							g.chr5:176952083C>A		CCDS54954.1	5q35	2010-02-17			ENSG00000146067	ENSG00000146067			25524	protein-coding gene	gene with protein product		615813				11572484	Standard	NR_024019		Approved	KIAA1931, FLJ10404	uc003mhu.3	Q96PV7	OTTHUMG00000163396	ENST00000514747.1:c.1399G>T	5.37:g.176952083C>A	ENSP00000422131:p.Val467Phe					FAM193B_ENST00000443375.2_Missense_Mutation_p.V434F|FAM193B_ENST00000514747.1_Missense_Mutation_p.V467F	p.V93F			Q6IPW0	Q6IPW0_HUMAN			9	3106	-			143					E9PET5|Q9NW00	Missense_Mutation	SNP	ENST00000514747.1	37	c.277G>T	CCDS54954.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	24.6|24.6	4.548601|4.548601	0.86127|0.86127	.|.	.|.	ENSG00000146067|ENSG00000146067	ENST00000524677|ENST00000514747;ENST00000443375;ENST00000329540	.|T;T;T	.|0.59083	.|0.29;0.35;0.34	5.86|5.86	4.99|4.99	0.66335|0.66335	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.72342|0.72342	0.3448|0.3448	L|L	0.54323|0.54323	1.7|1.7	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|1.0;1.0;1.0	.|D;D;D	.|0.91635	.|0.999;0.999;0.998	T|T	0.74799|0.74799	-0.3542|-0.3542	5|10	.|0.59425	.|D	.|0.04	-19.591|-19.591	16.4156|16.4156	0.83732|0.83732	0.1326:0.8673:0.0:0.0|0.1326:0.8673:0.0:0.0	.|.	.|467;93;434	.|E9PET5;E7ER81;E9PEZ8	.|.;.;.	V|F	152|467;434;93	.|ENSP00000422131:V467F;ENSP00000410098:V434F;ENSP00000332014:V93F	.|ENSP00000332014:V93F	G|V	-|-	2|1	0|0	FAM193B|FAM193B	176884689|176884689	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	7.453000|7.453000	0.80700|0.80700	1.468000|1.468000	0.48064|0.48064	0.563000|0.563000	0.77884|0.77884	GGT|GTC		0.567	FAM193B-003	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373121.1	NM_019057		17	81	1	0	1.67942e-08	1	2.05864e-08	17	81					A	176952083	C	A	176952083	3	1	397	1	0	0	0	0	1	0	0	0	5525	507	18	5	1081	5	FAM193B	5	176952083	Missense_Mutation	SNP	C	TCGA-V1-A9ZK-01A-11D-A41K-08	9398287	176952083	3963177	7	19404											
KLC4	89953	broad.mit.edu	37	chr6	43034071	43034071	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tggtcaaggtgctacagcagCtcagcagggtggatatgaga	11	8	15	7	0	2	1	2	1	0	1	2	3	2	2	0	4	5	4	0	4	3	2			TCGA-V1-A9ZK-01A-11D-A41K-08	TCGA-V1-A9ZK-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3bf64ed-fc4c-48cf-bc4a-ade574edd020	e30e3059-aeee-4637-94d2-78520add854e	g.chr6:43034071C>G	ENST00000394056.2	+	6	1094	c.599C>G	c.(598-600)gCt>gGt	p.A200G	KLC4_ENST00000347162.5_Missense_Mutation_p.A200G|KLC4_ENST00000259708.3_Missense_Mutation_p.A218G|KLC4_ENST00000394058.1_Missense_Mutation_p.A200G|KLC4_ENST00000453940.2_Missense_Mutation_p.A123G|KLC4_ENST00000479388.1_Missense_Mutation_p.A200G|KLC4_ENST00000458460.2_Missense_Mutation_p.A200G			Q9NSK0	KLC4_HUMAN	kinesin light chain 4	200						cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	microtubule motor activity (GO:0003777)			endometrium(2)|large_intestine(7)|lung(5)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(4)	23			all cancers(41;0.00169)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|OV - Ovarian serous cystadenocarcinoma(102;0.0376)|KIRC - Kidney renal clear cell carcinoma(2;0.0453)			GCTACAGCAGCTCAGCAGGGT	0.557																																						ENST00000394056.2																			0				endometrium(2)|large_intestine(7)|lung(5)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(4)	23						c.(598-600)gCt>gGt		kinesin light chain 4							207	176	187					6																	43034071		2203	4300	6503	SO:0001583	missense	89953					cytoplasm|kinesin complex|microtubule	microtubule motor activity|protein binding	g.chr6:43034071C>G	AK055293	CCDS4882.1, CCDS4883.1, CCDS47429.1, CCDS75459.1	6p21.1	2013-01-10	2005-09-13	2005-09-13	ENSG00000137171	ENSG00000137171		"Tetratricopeptide (TTC) repeat domain containing"	21624	protein-coding gene	gene with protein product			"kinesin-like 8"	KNSL8			Standard	NM_001289034		Approved	bA387M24.3	uc003otw.1	Q9NSK0	OTTHUMG00000014720	ENST00000394056.2:c.599C>G	6.37:g.43034071C>G	ENSP00000377620:p.Ala200Gly					KLC4_ENST00000259708.3_Missense_Mutation_p.A218G|KLC4_ENST00000453940.2_Missense_Mutation_p.A123G|KLC4_ENST00000458460.2_Missense_Mutation_p.A200G|KLC4_ENST00000479388.1_Missense_Mutation_p.A200G|KLC4_ENST00000394058.1_Missense_Mutation_p.A200G|KLC4_ENST00000347162.5_Missense_Mutation_p.A200G	p.A200G			Q9NSK0	KLC4_HUMAN	all cancers(41;0.00169)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|OV - Ovarian serous cystadenocarcinoma(102;0.0376)|KIRC - Kidney renal clear cell carcinoma(2;0.0453)		6	1094	+			200					B3KNY4|B3KPI3|B3KSQ3|B4DME9|Q66K28|Q96EG6	Missense_Mutation	SNP	ENST00000394056.2	37	c.599C>G	CCDS4883.1	.	.	.	.	.	.	.	.	.	.	C	16.57	3.160112	0.57368	.	.	ENSG00000137171	ENST00000347162;ENST00000453940;ENST00000479632;ENST00000470728;ENST00000458460;ENST00000259708;ENST00000479388;ENST00000394056;ENST00000394058	T;T;T;T;T;T;T;T;T	0.51071	0.72;0.72;0.72;0.72;0.72;0.72;0.72;0.72;0.72	4.41	3.5	0.40072	Rabaptin, GTPase-Rab5 binding (1);	0.257441	0.27645	N	0.018453	T	0.34337	0.0894	L	0.51422	1.61	0.46725	D	0.999179	P;B;P;P	0.43231	0.801;0.221;0.643;0.477	P;B;B;B	0.46419	0.516;0.057;0.209;0.133	T	0.09530	-1.0670	10	0.27785	T	0.31	1.7439	14.0729	0.64870	0.0:0.8476:0.1524:0.0	.	123;218;200;200	B4DME9;Q9NSK0-3;Q9NSK0;Q96EG6	.;.;KLC4_HUMAN;.	G	200;123;113;178;200;218;200;200;200	ENSP00000340221:A200G;ENSP00000395806:A123G;ENSP00000419784:A113G;ENSP00000417652:A178G;ENSP00000410358:A200G;ENSP00000259708:A218G;ENSP00000418031:A200G;ENSP00000377620:A200G;ENSP00000377622:A200G	ENSP00000259708:A218G	A	+	2	0	KLC4	43142049	1.000000	0.71417	0.998000	0.56505	0.965000	0.64279	4.716000	0.61916	1.137000	0.42214	0.650000	0.86243	GCT		0.557	KLC4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040579.2	NM_138343		3	74	0	0	0	1	0	3	74					G	43034071	C	G	43034071	3	3	397	1	0	0	0	0	1	0	0	0	8336	797	28	5	671	5	KLC4	6	43034071	Missense_Mutation	SNP	C	TCGA-V1-A9ZK-01A-11D-A41K-08		43034071	128080996	8	19405											
SNX13	23161	broad.mit.edu	37	chr7	17838696	17838696	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	taggtttttgatattccttcGcaaccactgatttctttctt	7	20	5	9	1	2	2	0	2	2	0	4	2	3	2	2	1	1	2	2	1	3	9			TCGA-V1-A9ZK-01A-11D-A41K-08	TCGA-V1-A9ZK-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3bf64ed-fc4c-48cf-bc4a-ade574edd020	e30e3059-aeee-4637-94d2-78520add854e	g.chr7:17838696G>A	ENST00000409389.1	-	23	2585	c.2413C>T	c.(2413-2415)Cga>Tga	p.R805*	SNX13_ENST00000496855.1_5'UTR|SNX13_ENST00000428135.3_Nonsense_Mutation_p.R794*			Q9Y5W8	SNX13_HUMAN	sorting nexin 13	805					intracellular protein transport (GO:0006886)|positive regulation of GTPase activity (GO:0043547)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	early endosome (GO:0005769)|membrane (GO:0016020)	phosphatidylinositol binding (GO:0035091)			breast(1)|central_nervous_system(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(13)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38	Lung NSC(10;0.0261)|all_lung(11;0.0521)					ATATTCCTTCGCAACCACTGA	0.358																																						ENST00000409389.1																			0				breast(1)|central_nervous_system(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(13)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38						c.(2413-2415)Cga>Tga		sorting nexin 13							171	158	162					7																	17838696		1846	4087	5933	SO:0001587	stop_gained	23161				cell communication|intracellular protein transport|negative regulation of signal transduction|positive regulation of GTPase activity	early endosome membrane	phosphatidylinositol binding|signal transducer activity	g.chr7:17838696G>A	AF420470	CCDS47551.1	7p21.1	2008-03-11			ENSG00000071189	ENSG00000071189		"Sorting nexins"	21335	protein-coding gene	gene with protein product		606589				11485546, 11729322	Standard	NM_015132		Approved	RGS-PX1, KIAA0713	uc003stv.3	Q9Y5W8	OTTHUMG00000152730	ENST00000409389.1:c.2413C>T	7.37:g.17838696G>A	ENSP00000386705:p.Arg805*					SNX13_ENST00000428135.3_Nonsense_Mutation_p.R794*|SNX13_ENST00000496855.1_5'UTR	p.R805*			Q9Y5W8	SNX13_HUMAN			23	2585	-	Lung NSC(10;0.0261)|all_lung(11;0.0521)		805					B2RCI9|O94821|Q8WVZ2|Q8WXH8	Nonsense_Mutation	SNP	ENST00000409389.1	37	c.2413C>T		.	.	.	.	.	.	.	.	.	.	G	41	8.629015	0.98892	.	.	ENSG00000071189	ENST00000409389;ENST00000428135;ENST00000242044	.	.	.	5.69	4.79	0.61399	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-9.0186	13.5417	0.61679	0.0:0.0:0.5848:0.4152	.	.	.	.	X	805;794;842	.	ENSP00000242044:R842X	R	-	1	2	SNX13	17805221	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.218000	0.51192	1.339000	0.45563	0.563000	0.77884	CGA		0.358	SNX13-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000327608.1	NM_015132		6	53	0	0	0	1	0	6	53					A	17838696	G	A	17838696	4	1	397	1	0	0	0	0	0	1	0	0	14884	1095	38	1	509	1	SNX13	7	17838696	Nonsense_Mutation	SNP	G	TCGA-V1-A9ZK-01A-11D-A41K-08		17838696	141299967	9	19406											
PRKDC	5591	broad.mit.edu	37	chr8	48690415	48690415	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgagttagccgaaaaggcatCaactcagggactggcagaaa	15	5	12	9	2	2	1	2	0	0	1	2	4	2	2	1	3	2	3	1	3	5	1			TCGA-V1-A9ZK-01A-11D-A41K-08	TCGA-V1-A9ZK-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3bf64ed-fc4c-48cf-bc4a-ade574edd020	e30e3059-aeee-4637-94d2-78520add854e	g.chr8:48690415C>A	ENST00000314191.2	-	85	11927	c.11871G>T	c.(11869-11871)ttG>ttT	p.L3957F	PRKDC_ENST00000523565.1_5'UTR|PRKDC_ENST00000338368.3_Missense_Mutation_p.L3926F	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	3958	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.				B cell lineage commitment (GO:0002326)|brain development (GO:0007420)|cellular protein modification process (GO:0006464)|cellular response to insulin stimulus (GO:0032869)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|ectopic germ cell programmed cell death (GO:0035234)|heart development (GO:0007507)|immunoglobulin V(D)J recombination (GO:0033152)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of protein phosphorylation (GO:0001933)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|pro-B cell differentiation (GO:0002328)|protein destabilization (GO:0031648)|regulation of circadian rhythm (GO:0042752)|response to gamma radiation (GO:0010332)|rhythmic process (GO:0048511)|signal transduction involved in mitotic G1 DNA damage checkpoint (GO:0072431)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell receptor V(D)J recombination (GO:0033153)|telomere maintenance (GO:0000723)	cytosol (GO:0005829)|DNA-dependent protein kinase-DNA ligase 4 complex (GO:0005958)|membrane (GO:0016020)|nonhomologous end joining complex (GO:0070419)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transcription factor binding (GO:0008134)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)			Caffeine(DB00201)	GAAAAGGCATCAACTCAGGGA	0.468								Non-homologous end-joining																													Esophageal Squamous(79;1091 1253 12329 31680 40677)	ENST00000314191.2																			0				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147						c.(11869-11871)ttG>ttT	Non-homologous end-joining	protein kinase, DNA-activated, catalytic polypeptide							73	73	73					8																	48690415		1983	4169	6152	SO:0001583	missense	5591				cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding	g.chr8:48690415C>A		CCDS75734.1, CCDS75735.1	8q11	2014-09-17				ENSG00000253729	2.7.11.1		9413	protein-coding gene	gene with protein product		600899		HYRC, HYRC1		7638222	Standard	NM_001081640		Approved	DNPK1, p350, DNAPK, XRCC7, DNA-PKcs	uc003xqi.3	P78527		ENST00000314191.2:c.11871G>T	8.37:g.48690415C>A	ENSP00000313420:p.Leu3957Phe					PRKDC_ENST00000338368.3_Missense_Mutation_p.L3926F|PRKDC_ENST00000523565.1_5'UTR	p.L3957F	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN			85	11927	-		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)	3958			PI3K/PI4K.		P78528|Q13327|Q13337|Q14175|Q59H99|Q7Z611|Q96SE6|Q9UME3	Missense_Mutation	SNP	ENST00000314191.2	37	c.11871G>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.6|20.6	4.016119|4.016119	0.75161|0.75161	.|.	.|.	ENSG00000253729|ENSG00000253729	ENST00000536429|ENST00000314191;ENST00000338368	.|T;T	.|0.77620	.|-1.11;-1.11	5.58|5.58	3.77|3.77	0.43336|0.43336	.|Protein kinase-like domain (1);Phosphatidylinositol 3-/4-kinase, catalytic (4);	.|0.000000	.|0.64402	.|D	.|0.000002	D|D	0.89880|0.89880	0.6843|0.6843	M|M	0.93763|0.93763	3.455|3.455	0.58432|0.58432	D|D	0.999999|0.999999	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.97110	.|1.0;0.999	D|D	0.90363|0.90363	0.4375|0.4375	5|10	.|0.66056	.|D	.|0.02	.|.	11.2422|11.2422	0.48977|0.48977	0.0:0.8034:0.1279:0.0687|0.0:0.8034:0.1279:0.0687	.|.	.|3926;3958	.|E7EUY0;P78527	.|.;PRKDC_HUMAN	Y|F	34|3957;3926	.|ENSP00000313420:L3957F;ENSP00000345182:L3926F	.|ENSP00000313420:L3957F	D|L	-|-	1|3	0|2	PRKDC|PRKDC	48852968|48852968	1.000000|1.000000	0.71417|0.71417	0.996000|0.996000	0.52242|0.52242	0.834000|0.834000	0.47266|0.47266	2.450000|2.450000	0.44943|0.44943	0.700000|0.700000	0.31782|0.31782	0.655000|0.655000	0.94253|0.94253	GAT|TTG		0.468	PRKDC-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001081640		7	14	1	0	0.27861	1	0.28614	7	14					A	48690415	C	A	48690415	3	1	397	1	0	0	0	0	1	0	0	0	12521	825	29	5	524	5	PRKDC	8	48690415	Missense_Mutation	SNP	C	TCGA-V1-A9ZK-01A-11D-A41K-08		48690415	97673607	10	19407											
UBAP1	51271	broad.mit.edu	37	chr9	34249846	34249846	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtccccaggcctattctgaaCtgcagatgctgtcccccagc	7	9	9	16	0	1	2	0	1	1	1	3	2	3	2	5	1	4	2	5	1	2	2			TCGA-V1-A9ZK-01A-11D-A41K-08	TCGA-V1-A9ZK-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3bf64ed-fc4c-48cf-bc4a-ade574edd020	e30e3059-aeee-4637-94d2-78520add854e	g.chr9:34249846C>A	ENST00000297661.4	+	5	1388	c.1153C>A	c.(1153-1155)Ctg>Atg	p.L385M	UBAP1_ENST00000545103.1_Missense_Mutation_p.L449M|UBAP1_ENST00000359544.2_Missense_Mutation_p.L385M|UBAP1_ENST00000379186.4_Intron|UBAP1_ENST00000540348.1_Missense_Mutation_p.L385M|UBAP1_ENST00000536252.1_Missense_Mutation_p.L385M|UBAP1_ENST00000543944.1_Missense_Mutation_p.L421M	NM_016525.4	NP_057609.2	Q9NZ09	UBAP1_HUMAN	ubiquitin associated protein 1	385					protein transport (GO:0015031)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|ESCRT I complex (GO:0000813)	ubiquitin binding (GO:0043130)			endometrium(4)|kidney(2)|lung(6)|upper_aerodigestive_tract(1)	13			LUSC - Lung squamous cell carcinoma(29;0.00272)			CTATTCTGAACTGCAGATGCT	0.527																																					NSCLC(109;1074 1634 14978 20375 39620)	ENST00000536252.1																			0				endometrium(4)|kidney(2)|lung(6)|upper_aerodigestive_tract(1)	13						c.(1153-1155)Ctg>Atg		ubiquitin associated protein 1							122	114	117					9																	34249846		2203	4300	6503	SO:0001583	missense	51271					cytoplasm		g.chr9:34249846C>A	AF222043	CCDS6550.1	9p13.3	2008-05-15	2002-08-27	2002-08-30	ENSG00000165006	ENSG00000165006			12461	protein-coding gene	gene with protein product		609787	"ubiquitin associated protein"	UBAP			Standard	NM_001171201		Approved		uc011loj.2	Q9NZ09	OTTHUMG00000000430	ENST00000297661.4:c.1153C>A	9.37:g.34249846C>A	ENSP00000297661:p.Leu385Met					UBAP1_ENST00000297661.4_Missense_Mutation_p.L385M|UBAP1_ENST00000543944.1_Missense_Mutation_p.L421M|UBAP1_ENST00000540348.1_Missense_Mutation_p.L385M|UBAP1_ENST00000359544.2_Missense_Mutation_p.L385M|UBAP1_ENST00000545103.1_Missense_Mutation_p.L449M|UBAP1_ENST00000379186.4_Intron	p.L385M	NM_001171203.2	NP_001164674.1	Q9NZ09	UBAP1_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.00272)		6	1551	+			385					B7Z348|B7Z8N9|D3DRL7|F5GXE2|F5H0J8|Q4V759|Q53FP7|Q5T7B3|Q6FI75|Q8NC52|Q8NCG6|Q8NCH9	Missense_Mutation	SNP	ENST00000297661.4	37	c.1153C>A	CCDS6550.1	.	.	.	.	.	.	.	.	.	.	C	20.5	4.006285	0.74932	.	.	ENSG00000165006	ENST00000545103;ENST00000543944;ENST00000536252;ENST00000540348;ENST00000297661;ENST00000359544	T;T;T;T;T;T	0.50548	0.74;0.74;0.74;0.74;0.74;0.74	5.37	4.48	0.54585	UBA-like (1);	0.179453	0.37669	N	0.001981	T	0.64472	0.2601	M	0.72894	2.215	0.58432	D	0.999999	D;D;D;D	0.89917	1.0;1.0;1.0;0.996	D;D;D;D	0.72625	0.962;0.978;0.978;0.944	T	0.65689	-0.6107	10	0.48119	T	0.1	-5.648	11.1674	0.48552	0.0:0.8535:0.0:0.1465	.	449;421;449;385	F5GXE2;F5H0J8;B7Z8N9;Q9NZ09	.;.;.;UBAP1_HUMAN	M	449;421;385;385;385;385	ENSP00000441024:L449M;ENSP00000439806:L421M;ENSP00000440456:L385M;ENSP00000439976:L385M;ENSP00000297661:L385M;ENSP00000352541:L385M	ENSP00000297661:L385M	L	+	1	2	UBAP1	34239846	1.000000	0.71417	1.000000	0.80357	0.885000	0.51271	2.002000	0.40835	1.500000	0.48636	0.591000	0.81541	CTG		0.527	UBAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001084.1			19	72	1	0	1.33834e-09	1	1.69523e-09	19	72					A	34249846	C	A	34249846	3	1	397	1	0	0	0	0	1	0	0	0	16833	564	20	5	1404	5	UBAP1	9	34249846	Missense_Mutation	SNP	C	TCGA-V1-A9ZK-01A-11D-A41K-08		34249846	106963585	11	19408											
DOCK1	1793	broad.mit.edu	37	chr10	129209120	129209120	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	acagtttttacagggtgaacGaggtccagcgatttgaatat	12	12	11	6	2	0	2	0	2	0	0	1	4	1	2	1	2	3	1	1	2	4	5			TCGA-V1-A9ZK-01A-11D-A41K-08	TCGA-V1-A9ZK-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3bf64ed-fc4c-48cf-bc4a-ade574edd020	e30e3059-aeee-4637-94d2-78520add854e	g.chr10:129209120G>A	ENST00000280333.6	+	43	4406	c.4297G>A	c.(4297-4299)Gag>Aag	p.E1433K		NM_001380.3	NP_001371.1	Q14185	DOCK1_HUMAN	dedicator of cytokinesis 1	1433	DHR-2.				apoptotic process (GO:0006915)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|hematopoietic progenitor cell differentiation (GO:0002244)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|phagocytosis, engulfment (GO:0006911)|positive regulation of GTPase activity (GO:0043547)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)			NS(2)|breast(1)|central_nervous_system(7)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(10)|lung(15)|ovary(4)|prostate(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	72		all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14)		BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115)		CAGGGTGAACGAGGTCCAGCG	0.428																																						ENST00000280333.6																			0				NS(2)|breast(1)|central_nervous_system(7)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(10)|lung(15)|ovary(4)|prostate(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	72						c.(4297-4299)Gag>Aag		dedicator of cytokinesis 1							73	70	71					10																	129209120		1872	4099	5971	SO:0001583	missense	1793				apoptosis|axon guidance|blood coagulation|integrin-mediated signaling pathway|phagocytosis, engulfment|small GTPase mediated signal transduction	cytosol|membrane	GTP binding|GTPase activator activity|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding	g.chr10:129209120G>A	D50857	CCDS73222.1	10q26.13-q26.3	2009-10-28			ENSG00000150760	ENSG00000150760			2987	protein-coding gene	gene with protein product	"DOwnstream of CrK"	601403	"dedicator of cyto-kinesis 1"			8657152, 8661160	Standard	XM_006717681		Approved	DOCK180, ced5	uc001ljt.3	Q14185	OTTHUMG00000019249	ENST00000280333.6:c.4297G>A	10.37:g.129209120G>A	ENSP00000280333:p.Glu1433Lys						p.E1433K	NM_001380.3	NP_001371.1	Q14185	DOCK1_HUMAN		BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115)	43	4406	+		all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14)	1433			DHR-2.		A9Z1Z5	Missense_Mutation	SNP	ENST00000280333.6	37	c.4297G>A		.	.	.	.	.	.	.	.	.	.	G	25.5	4.644533	0.87859	.	.	ENSG00000150760	ENST00000280333	T	0.16597	2.33	4.9	4.9	0.64082	.	0.000000	0.85682	D	0.000000	T	0.37785	0.1016	M	0.64404	1.975	0.80722	D	1	D;D;D	0.76494	0.957;0.999;0.995	P;P;D	0.63283	0.781;0.829;0.913	T	0.04281	-1.0963	10	0.40728	T	0.16	.	18.3037	0.90172	0.0:0.0:1.0:0.0	.	1433;1499;1433	B2RUU3;A8MU08;Q14185	.;.;DOCK1_HUMAN	K	1433	ENSP00000280333:E1433K	ENSP00000280333:E1433K	E	+	1	0	DOCK1	129099110	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.401000	0.79962	2.546000	0.85860	0.655000	0.94253	GAG		0.428	DOCK1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000050979.2	NM_001380		3	28	0	0	0	1	0	3	28					A	129209120	G	A	129209120	3	1	397	1	0	0	0	0	1	0	0	0	4684	1059	37	2	4467	2	DOCK1	10	129209120	Missense_Mutation	SNP	G	TCGA-V1-A9ZK-01A-11D-A41K-08		129209120	6325627	12	19409											
KRTAP5-7	440050	broad.mit.edu	37	chr11	71238651	71238651	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagctgctataagccctgctGctgctcctcaggctgtgggt	5	11	12	13	0	1	0	1	0	0	0	2	0	2	0	2	2	6	6	2	2	2	2			TCGA-V1-A9ZK-01A-11D-A41K-08	TCGA-V1-A9ZK-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3bf64ed-fc4c-48cf-bc4a-ade574edd020	e30e3059-aeee-4637-94d2-78520add854e	g.chr11:71238651G>A	ENST00000398536.4	+	1	339	c.305G>A	c.(304-306)tGc>tAc	p.C102Y		NM_001012503.1	NP_001012521.1	Q6L8G8	KRA57_HUMAN	keratin associated protein 5-7	102	7 X 4 AA repeats of C-C-X-P.					keratin filament (GO:0045095)				breast(1)|endometrium(1)|kidney(3)|lung(6)|ovary(1)	12						aagccctgctgctgctcctca	0.632																																						ENST00000398536.4																			0				breast(1)|endometrium(1)|kidney(3)|lung(6)|ovary(1)	12						c.(304-306)tGc>tAc		keratin associated protein 5-7							69	88	82					11																	71238651		2197	4292	6489	SO:0001583	missense	440050					keratin filament		g.chr11:71238651G>A	AB126076	CCDS41682.1	11q13.4	2008-02-05			ENSG00000244411	ENSG00000244411		"Keratin associated proteins"	23602	protein-coding gene	gene with protein product						15144888	Standard	NM_001012503		Approved	KRTAP5.7, KRTAP5-3	uc001oqq.1	Q6L8G8	OTTHUMG00000057570	ENST00000398536.4:c.305G>A	11.37:g.71238651G>A	ENSP00000417330:p.Cys102Tyr						p.C102Y	NM_001012503.1	NP_001012521.1	Q6L8G8	KRA57_HUMAN			1	339	+			102			7 X 4 AA repeats of C-C-X-P.		B2RNM3|Q701N5	Missense_Mutation	SNP	ENST00000398536.4	37	c.305G>A	CCDS41682.1	.	.	.	.	.	.	.	.	.	.	N	11.12	1.544557	0.27563	.	.	ENSG00000244411	ENST00000398536	T	0.01438	4.89	1.66	1.66	0.24008	.	.	.	.	.	T	0.04679	0.0127	H	0.94503	3.545	0.28936	N	0.891254	P	0.47910	0.902	B	0.41135	0.348	T	0.11616	-1.0580	9	0.87932	D	0	.	9.311	0.37905	0.0:0.0:1.0:0.0	.	102	Q6L8G8	KRA57_HUMAN	Y	102	ENSP00000417330:C102Y	ENSP00000417330:C102Y	C	+	2	0	KRTAP5-7	70916299	1.000000	0.71417	0.731000	0.30826	0.054000	0.15201	1.883000	0.39658	1.261000	0.44149	0.281000	0.19383	TGC		0.632	KRTAP5-7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127953.1			16	193	0	0	0	1	0	16	193					A	71238651	G	A	71238651	3	1	397	1	0	0	0	0	1	0	0	0	8566	1319	46	3	307	3	KRTAP5-7	11	71238651	Missense_Mutation	SNP	G	TCGA-V1-A9ZK-01A-11D-A41K-08		71238651	63767865	13	19410											
INPPL1	3636	broad.mit.edu	37	chr11	71946489	71946489	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctgggcacccgtgagcggCtctacggtggggactccact	5	7	15	14	3	1	1	0	1	1	0	2	2	2	2	3	5	2	2	3	5	1	1			TCGA-V1-A9ZK-01A-11D-A41K-08	TCGA-V1-A9ZK-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3bf64ed-fc4c-48cf-bc4a-ade574edd020	e30e3059-aeee-4637-94d2-78520add854e	g.chr11:71946489C>T	ENST00000298229.2	+	23	2857	c.2653C>T	c.(2653-2655)Ctc>Ttc	p.L885F	INPPL1_ENST00000538751.1_Missense_Mutation_p.L643F|INPPL1_ENST00000541756.1_Missense_Mutation_p.L643F	NM_001567.3	NP_001558.3	O15357	SHIP2_HUMAN	inositol polyphosphate phosphatase-like 1	885					actin filament organization (GO:0007015)|cell adhesion (GO:0007155)|endochondral ossification (GO:0001958)|endocytosis (GO:0006897)|glucose metabolic process (GO:0006006)|immune system process (GO:0002376)|inositol phosphate metabolic process (GO:0043647)|negative regulation of cell proliferation (GO:0008285)|negative regulation of gene expression (GO:0010629)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|post-embryonic development (GO:0009791)|response to insulin (GO:0032868)|ruffle assembly (GO:0097178)|small molecule metabolic process (GO:0044281)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	hydrolase activity (GO:0016787)|SH2 domain binding (GO:0042169)			breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						CCGTGAGCGGCTCTACGGTGG	0.617																																						ENST00000541756.1																			0				breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						c.(1927-1929)Ctc>Ttc		inositol polyphosphate phosphatase-like 1							60	72	68					11																	71946489		2200	4290	6490	SO:0001583	missense	3636				actin filament organization|cell adhesion|endocytosis	actin cortical patch|cytosol	actin binding|SH2 domain binding|SH3 domain binding	g.chr11:71946489C>T	Y14385	CCDS8213.1	11q23	2013-02-14			ENSG00000165458	ENSG00000165458		"Sterile alpha motif (SAM) domain containing", "SH2 domain containing"	6080	protein-coding gene	gene with protein product	"51C protein"	600829				8530088	Standard	NM_001567		Approved	SHIP2	uc001osf.3	O15357	OTTHUMG00000167879	ENST00000298229.2:c.2653C>T	11.37:g.71946489C>T	ENSP00000298229:p.Leu885Phe					INPPL1_ENST00000538751.1_Missense_Mutation_p.L643F|INPPL1_ENST00000298229.2_Missense_Mutation_p.L885F	p.L643F			O15357	SHIP2_HUMAN			23	2857	+			885					B2RTX5|Q13577|Q13578	Missense_Mutation	SNP	ENST00000298229.2	37	c.1927C>T	CCDS8213.1	.	.	.	.	.	.	.	.	.	.	c	27.8	4.868400	0.91587	.	.	ENSG00000165458	ENST00000298229;ENST00000541756;ENST00000538751	T;T;T	0.35421	1.31;1.31;1.31	5.5	4.59	0.56863	.	0.000000	0.64402	D	0.000001	T	0.46464	0.1394	L	0.55990	1.75	0.49798	D	0.999821	D	0.60160	0.987	P	0.53912	0.737	T	0.46148	-0.9212	10	0.56958	D	0.05	.	13.1668	0.59575	0.0:0.9223:0.0:0.0777	.	885	O15357	SHIP2_HUMAN	F	885;643;643	ENSP00000298229:L885F;ENSP00000446360:L643F;ENSP00000444619:L643F	ENSP00000298229:L885F	L	+	1	0	INPPL1	71624137	1.000000	0.71417	0.996000	0.52242	0.988000	0.76386	4.493000	0.60341	1.307000	0.44944	0.655000	0.94253	CTC		0.617	INPPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396789.1	NM_001567		17	96	0	0	0	1	0	17	96					T	71946489	C	T	71946489	3	4	397	1	0	0	0	0	1	0	0	0	7761	797	28	3	2743	3	INPPL1	11	71946489	Missense_Mutation	SNP	C	TCGA-V1-A9ZK-01A-11D-A41K-08	707838	71946489	63060027	14	19411											
OR8A1	390275	broad.mit.edu	37	chr11	124440636	124440636	+	Frame_Shift_Del	DEL	A	A	-																															tcggctggattcaacatcatAgtcacgagcttaacagttct																										TCGA-V1-A9ZK-01A-11D-A41K-08	TCGA-V1-A9ZK-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3bf64ed-fc4c-48cf-bc4a-ade574edd020	e30e3059-aeee-4637-94d2-78520add854e	g.chr11:124440636delA	ENST00000284287.3	+	1	744	c.672delA	c.(670-672)atafs	p.I224fs		NM_001005194.1	NP_001005194.1	Q8NGG7	OR8A1_HUMAN	olfactory receptor, family 8, subfamily A, member 1	224					axon guidance (GO:0007411)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			haematopoietic_and_lymphoid_tissue(1)|lung(16)|ovary(2)|prostate(1)|skin(2)	22		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0214)		TCAACATCATAGTCACGAGCT	0.483																																						ENST00000284287.3																			0				haematopoietic_and_lymphoid_tissue(1)|lung(16)|ovary(2)|prostate(1)|skin(2)	22						c.(670-672)atfs		olfactory receptor, family 8, subfamily A, member 1							118	114	115					11																	124440636		2201	4299	6500	SO:0001589	frameshift_variant	390275				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:124440636delA	BK004495	CCDS31712.1	11q24.2	2012-08-09			ENSG00000196119	ENSG00000196119		"GPCR / Class A : Olfactory receptors"	8469	protein-coding gene	gene with protein product							Standard	NM_001005194		Approved	OST025	uc010san.2	Q8NGG7	OTTHUMG00000165923	ENST00000284287.3:c.672delA	11.37:g.124440636delA	ENSP00000284287:p.Ile224fs						p.I224fs	NM_001005194.1	NP_001005194.1	Q8NGG7	OR8A1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0214)	1	744	+		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)	224					Q6IEW7|Q96RC6	Frame_Shift_Del	DEL	ENST00000284287.3	37	c.672delA	CCDS31712.1																																																																																				0.483	OR8A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387062.1	NM_001005194		17	45						17	45	---	---	---	---	-	124440636	A	-	124440636	7	5	397	1	0	1	0	1	0	0	0	0	11225	410	15	0	674	0	OR8A1	11	124440636	Frame_Shift_Del	DEL	A	TCGA-V1-A9ZK-01A-11D-A41K-08	52494147	124440636	10565880	15	19412											
C1S	716	broad.mit.edu	37	chr12	7177603	7177603	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	actgatctcaggctggggccGaacagagaagagagatcgtg	12	6	15	8	2	1	4	1	1	1	3	3	7	1	4	1	3	1	1	1	3	2	0			TCGA-V1-A9ZK-01A-11D-A41K-08	TCGA-V1-A9ZK-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3bf64ed-fc4c-48cf-bc4a-ade574edd020	e30e3059-aeee-4637-94d2-78520add854e	g.chr12:7177603G>A	ENST00000406697.1	+	15	2343	c.1715G>A	c.(1714-1716)cGa>cAa	p.R572Q	C1S_ENST00000328916.3_Missense_Mutation_p.R572Q|C1S_ENST00000360817.5_Missense_Mutation_p.R572Q|C1S_ENST00000402681.3_Missense_Mutation_p.R405Q			P09871	C1S_HUMAN	complement component 1, s subcomponent	572	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|serine-type endopeptidase activity (GO:0004252)			breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(4)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33					Abciximab(DB00054)|Adalimumab(DB00051)|Basiliximab(DB00074)|Cetuximab(DB00002)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Muromonab(DB00075)|Rituximab(DB00073)|Trastuzumab(DB00072)	GGCTGGGGCCGAACAGAGAAG	0.537																																					GBM(156;750 1943 12971 24779 31015)	ENST00000406697.1																			0				breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(4)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33						c.(1714-1716)cGa>cAa		complement component 1, s subcomponent	Abciximab(DB00054)|Adalimumab(DB00051)|Basiliximab(DB00074)|Cetuximab(DB00002)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Rituximab(DB00073)|Trastuzumab(DB00072)						59	55	56					12																	7177603		2203	4300	6503	SO:0001583	missense	716				complement activation, classical pathway|innate immune response|proteolysis	extracellular region	calcium ion binding|serine-type endopeptidase activity	g.chr12:7177603G>A		CCDS31735.1	12p13	2014-09-17			ENSG00000182326	ENSG00000182326	3.4.21.42	"Complement system"	1247	protein-coding gene	gene with protein product		120580					Standard	NM_201442		Approved		uc001qsl.3	P09871	OTTHUMG00000150305	ENST00000406697.1:c.1715G>A	12.37:g.7177603G>A	ENSP00000385035:p.Arg572Gln					C1S_ENST00000328916.3_Missense_Mutation_p.R572Q|C1S_ENST00000402681.3_Missense_Mutation_p.R405Q|C1S_ENST00000360817.5_Missense_Mutation_p.R572Q	p.R572Q			P09871	C1S_HUMAN			15	2343	+			572			Peptidase S1.		D3DUT4|Q9UCU7|Q9UCU8|Q9UCU9|Q9UCV0|Q9UCV1|Q9UCV2|Q9UCV3|Q9UCV4|Q9UCV5|Q9UM14	Missense_Mutation	SNP	ENST00000406697.1	37	c.1715G>A	CCDS31735.1	.	.	.	.	.	.	.	.	.	.	G	11.84	1.759080	0.31137	.	.	ENSG00000182326	ENST00000406697;ENST00000328916;ENST00000360817;ENST00000382222;ENST00000402681	D;D;D;D	0.89415	-2.51;-2.51;-2.51;-2.51	5.01	-1.11	0.09840	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.227304	0.21989	N	0.066197	T	0.77738	0.4175	N	0.17901	0.54	0.09310	N	1	B	0.34241	0.444	B	0.34093	0.175	T	0.66428	-0.5926	10	0.28530	T	0.3	.	11.4735	0.50284	0.5517:0.0:0.4483:0.0	.	572	P09871	C1S_HUMAN	Q	572;572;572;566;405	ENSP00000385035:R572Q;ENSP00000328173:R572Q;ENSP00000354057:R572Q;ENSP00000384171:R405Q	ENSP00000328173:R572Q	R	+	2	0	C1S	7047864	0.000000	0.05858	0.000000	0.03702	0.066000	0.16364	-0.340000	0.07821	-0.152000	0.11156	0.561000	0.74099	CGA		0.537	C1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317481.1	NM_001734		4	29	0	0	0	1	0	4	29					A	7177603	G	A	7177603	3	1	397	1	0	0	0	0	1	0	0	0	1974	1058	37	2	1757	2	C1S	12	7177603	Missense_Mutation	SNP	G	TCGA-V1-A9ZK-01A-11D-A41K-08		7177603	126674292	16	19413											
MLL2	8085	broad.mit.edu	37	chr12	49420108	49420108	+	Missense_Mutation	SNP	C	C	A																															tgcggaggctccaatagatgCgcgtggcctcgtagcccacg																								rs398123729		TCGA-V1-A9ZK-01A-11D-A41K-08	TCGA-V1-A9ZK-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3bf64ed-fc4c-48cf-bc4a-ade574edd020	e30e3059-aeee-4637-94d2-78520add854e	g.chr12:49420108C>A	ENST00000301067.7	-	48	15640	c.15641G>T	c.(15640-15642)cGc>cTc	p.R5214L		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	5214	FYR N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00875}.		R -> H (in KABUK1). {ECO:0000269|PubMed:20711175}.		chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)										CCAATAGATGCGCGTGGCCTC	0.577																																						ENST00000301067.7																			0											c.(15640-15642)cGc>cTc		lysine (K)-specific methyltransferase 2D							50	54	53					12																	49420108		2080	4205	6285	SO:0001583	missense	8085							g.chr12:49420108C>A	AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	7133	protein-coding gene	gene with protein product		602113	"trinucleotide repeat containing 21", "myeloid/lymphoid or mixed-lineage leukemia 2"	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.15641G>T	12.37:g.49420108C>A	ENSP00000301067:p.Arg5214Leu						p.R5214L	NM_003482.3	NP_003473.3					48	15640	-								O14687	Missense_Mutation	SNP	ENST00000301067.7	37	c.15641G>T	CCDS44873.1	.	.	.	.	.	.	.	.	.	.	C	15.71	2.915120	0.52546	.	.	ENSG00000167548	ENST00000301067	D	0.89939	-2.59	5.12	5.12	0.69794	FY-rich, N-terminal (1);FY-rich, N-terminal subgroup (1);	0.000000	0.37261	N	0.002172	D	0.95865	0.8654	M	0.92219	3.285	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.96743	0.9548	10	0.87932	D	0	.	17.7186	0.88344	0.0:1.0:0.0:0.0	.	5214	O14686	MLL2_HUMAN	L	5214	ENSP00000301067:R5214L	ENSP00000301067:R5214L	R	-	2	0	MLL2	47706375	1.000000	0.71417	0.998000	0.56505	0.984000	0.73092	7.818000	0.86416	2.565000	0.86533	0.655000	0.94253	CGC		0.577	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2			9	30	1	0	7.48243e-07	1	8.61613e-07	9	30					A	49420108	C	A	49420108	3	1	397	1	0	0	0	0	1	0	0	0	9621	768	27	5	1000	5	MLL2	12	49420108	Missense_Mutation	SNP	C	TCGA-V1-A9ZK-01A-11D-A41K-08	42242505	49420108	84431787	17	19414	97	2									
MLL2	8085	broad.mit.edu	37	chr12	49420109	49420109	+	Missense_Mutation	SNP	G	G	A																															gcggaggctccaatagatgcGcgtggcctcgtagcccacgg																								rs398123728		TCGA-V1-A9ZK-01A-11D-A41K-08	TCGA-V1-A9ZK-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3bf64ed-fc4c-48cf-bc4a-ade574edd020	e30e3059-aeee-4637-94d2-78520add854e	g.chr12:49420109G>A	ENST00000301067.7	-	48	15639	c.15640C>T	c.(15640-15642)Cgc>Tgc	p.R5214C		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	5214	FYR N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00875}.		R -> H (in KABUK1). {ECO:0000269|PubMed:20711175}.		chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.R5214C(1)|p.R4944C(1)									CAATAGATGCGCGTGGCCTCG	0.577																																						ENST00000301067.7																			2	Substitution - Missense(2)	p.R5214C(1)|p.R4944C(1)	haematopoietic_and_lymphoid_tissue(2)								c.(15640-15642)Cgc>Tgc		lysine (K)-specific methyltransferase 2D							49	53	52					12																	49420109		2085	4210	6295	SO:0001583	missense	8085							g.chr12:49420109G>A	AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	7133	protein-coding gene	gene with protein product		602113	"trinucleotide repeat containing 21", "myeloid/lymphoid or mixed-lineage leukemia 2"	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.15640C>T	12.37:g.49420109G>A	ENSP00000301067:p.Arg5214Cys						p.R5214C	NM_003482.3	NP_003473.3					48	15639	-								O14687	Missense_Mutation	SNP	ENST00000301067.7	37	c.15640C>T	CCDS44873.1	.	.	.	.	.	.	.	.	.	.	G	14.88	2.666909	0.47677	.	.	ENSG00000167548	ENST00000301067	D	0.90004	-2.6	5.12	5.12	0.69794	FY-rich, N-terminal (1);FY-rich, N-terminal subgroup (1);	0.000000	0.37261	N	0.002172	D	0.95865	0.8654	M	0.92219	3.285	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.96743	0.9548	10	0.87932	D	0	.	17.7186	0.88344	0.0:0.0:1.0:0.0	.	5214	O14686	MLL2_HUMAN	C	5214	ENSP00000301067:R5214C	ENSP00000301067:R5214C	R	-	1	0	MLL2	47706376	1.000000	0.71417	0.962000	0.40283	0.980000	0.70556	8.008000	0.88588	2.565000	0.86533	0.655000	0.94253	CGC		0.577	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2			8	30	0	0	0	1	0	8	30					A	49420109	G	A	49420109	3	1	397	1	0	0	0	0	1	0	0	0	9621	1087	38	1	1001	1	MLL2	12	49420109	Missense_Mutation	SNP	G	TCGA-V1-A9ZK-01A-11D-A41K-08	1	49420109	84431786	18	19415	97	2									
OR11G2	390439	broad.mit.edu	37	chr14	20666367	20666367	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggtttcactgttctacggCtcagtactggtcatgtatgg	6	15	12	8	1	4	0	3	0	1	0	4	0	4	0	0	4	2	5	0	4	3	5			TCGA-V1-A9ZK-01A-11D-A41K-08	TCGA-V1-A9ZK-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3bf64ed-fc4c-48cf-bc4a-ade574edd020	e30e3059-aeee-4637-94d2-78520add854e	g.chr14:20666367C>A	ENST00000357366.3	+	1	873	c.873C>A	c.(871-873)ggC>ggA	p.G291G		NM_001005503.1	NP_001005503.1	Q8NGC1	O11G2_HUMAN	olfactory receptor, family 11, subfamily G, member 2	291						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	22	all_cancers(95;0.00108)		Epithelial(56;9.76e-07)|all cancers(55;5.61e-06)	GBM - Glioblastoma multiforme(265;0.0144)		TGTTCTACGGCTCAGTACTGG	0.507																																						ENST00000357366.3																			0				endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	22						c.(871-873)ggC>ggA		olfactory receptor, family 11, subfamily G, member 2							158	152	154					14																	20666367		2203	4300	6503	SO:0001819	synonymous_variant	390439				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20666367C>A		CCDS32032.1	14q11.2	2013-09-24			ENSG00000196832	ENSG00000196832		"GPCR / Class A : Olfactory receptors"	15346	protein-coding gene	gene with protein product							Standard	NM_001005503		Approved		uc010tlb.2	Q8NGC1	OTTHUMG00000167700	ENST00000357366.3:c.873C>A	14.37:g.20666367C>A							p.G291G	NM_001005503.1	NP_001005503.1	Q8NGC1	O11G2_HUMAN	Epithelial(56;9.76e-07)|all cancers(55;5.61e-06)	GBM - Glioblastoma multiforme(265;0.0144)	1	873	+	all_cancers(95;0.00108)		291					Q6IF09|Q96R33	Silent	SNP	ENST00000357366.3	37	c.873C>A	CCDS32032.1																																																																																				0.507	OR11G2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395722.1			4	123	1	0	0.150653	1	0.159023	4	123					A	20666367	C	A	20666367	2	1	397	1	0	0	0	0	0	0	0	1	10925	784	28	5		5	OR11G2	14	20666367	Silent	SNP	C	TCGA-V1-A9ZK-01A-11D-A41K-08		20666367	86683173	19	19416											
RABGGTA	5875	broad.mit.edu	37	chr14	24734832	24734832	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagggcctcttaggtgaggaCgctgctaactgaaggcagca	10	7	14	10	1	1	2	0	2	1	0	1	3	1	3	1	4	3	4	1	4	3	2			TCGA-V1-A9ZK-01A-11D-A41K-08	TCGA-V1-A9ZK-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3bf64ed-fc4c-48cf-bc4a-ade574edd020	e30e3059-aeee-4637-94d2-78520add854e	g.chr14:24734832C>T	ENST00000399409.3	-	16	2176	c.1693G>A	c.(1693-1695)Gtc>Atc	p.V565I	RABGGTA_ENST00000560777.1_Missense_Mutation_p.V174I|RABGGTA_ENST00000216840.6_Missense_Mutation_p.V565I|TGM1_ENST00000206765.6_5'Flank|TGM1_ENST00000544573.1_5'Flank	NM_004581.5	NP_004572.3	Q92696	PGTA_HUMAN	Rab geranylgeranyltransferase, alpha subunit	565					cellular protein modification process (GO:0006464)|protein geranylgeranylation (GO:0018344)|visual perception (GO:0007601)	Rab-protein geranylgeranyltransferase complex (GO:0005968)	Rab geranylgeranyltransferase activity (GO:0004663)|Rab GTPase binding (GO:0017137)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)	12				GBM - Glioblastoma multiforme(265;0.0184)		TAGGTGAGGACGCTGCTAACT	0.577																																						ENST00000399409.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)	12						c.(1693-1695)Gtc>Atc		Rab geranylgeranyltransferase, alpha subunit							38	41	40					14																	24734832		2019	4173	6192	SO:0001583	missense	5875				visual perception		Rab geranylgeranyltransferase activity|zinc ion binding	g.chr14:24734832C>T		CCDS45088.1	14q11.2	2011-06-27				ENSG00000100949		"Prenyltransferase alpha subunit repeat containing"	9795	protein-coding gene	gene with protein product	"protein prenyltransferase alpha subunit repeat containing 3"	601905				8954794	Standard	NM_182836		Approved	PTAR3	uc001wog.4	Q92696		ENST00000399409.3:c.1693G>A	14.37:g.24734832C>T	ENSP00000382341:p.Val565Ile					RABGGTA_ENST00000560777.1_Missense_Mutation_p.V174I|RABGGTA_ENST00000216840.6_Missense_Mutation_p.V565I	p.V565I	NM_004581.5	NP_004572.3	Q92696	PGTA_HUMAN		GBM - Glioblastoma multiforme(265;0.0184)	16	2176	-			565					A8K5N2|D3DS69	Missense_Mutation	SNP	ENST00000399409.3	37	c.1693G>A	CCDS45088.1	.	.	.	.	.	.	.	.	.	.	C	0.020	-1.442077	0.01098	.	.	ENSG00000100949	ENST00000216840;ENST00000399409	T;T	0.45276	0.9;0.9	5.67	3.25	0.37280	.	0.216537	0.40222	N	0.001156	T	0.13628	0.0330	N	0.02129	-0.67	0.09310	N	0.999996	B	0.02656	0.0	B	0.01281	0.0	T	0.34254	-0.9836	10	0.02654	T	1	-6.3411	8.5901	0.33682	0.0:0.1576:0.0:0.8424	.	565	Q92696	PGTA_HUMAN	I	565	ENSP00000216840:V565I;ENSP00000382341:V565I	ENSP00000216840:V565I	V	-	1	0	RABGGTA	23804672	1.000000	0.71417	0.994000	0.49952	0.072000	0.16883	0.897000	0.28390	0.391000	0.25143	-0.605000	0.04089	GTC		0.577	RABGGTA-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415308.5	NM_182836		3	21	0	0	0	1	0	3	21					T	24734832	C	T	24734832	3	4	397	1	0	0	0	0	1	0	0	0	12967	536	19	1	14	1	RABGGTA	14	24734832	Missense_Mutation	SNP	C	TCGA-V1-A9ZK-01A-11D-A41K-08	4068465	24734832	82614708	20	19417											
TUBGCP5	114791	broad.mit.edu	37	chr15	22851079	22851079	+	Nonsense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacaaggccattcttgaataTgacaatgttggagaagcctc	13	11	9	8	0	1	3	0	2	1	1	2	4	1	3	2	2	2	1	2	2	6	5			TCGA-V1-A9ZK-01A-11D-A41K-08	TCGA-V1-A9ZK-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3bf64ed-fc4c-48cf-bc4a-ade574edd020	e30e3059-aeee-4637-94d2-78520add854e	g.chr15:22851079T>G	ENST00000283645.4	+	11	1471	c.1341T>G	c.(1339-1341)taT>taG	p.Y447*	TUBGCP5_ENST00000453949.2_Nonsense_Mutation_p.Y447*|TUBGCP5_ENST00000559846.1_3'UTR	NM_052903.4	NP_443135.3	Q96RT8	GCP5_HUMAN	tubulin, gamma complex associated protein 5	447					G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|gamma-tubulin ring complex (GO:0008274)|microtubule (GO:0005874)|nucleus (GO:0005634)|spindle pole (GO:0000922)	microtubule binding (GO:0008017)			breast(5)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(23)|prostate(1)|skin(2)|urinary_tract(1)	46		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;2.86e-06)|Epithelial(43;2.63e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000949)		TTCTTGAATATGACAATGTTG	0.483																																						ENST00000283645.4																			0				breast(5)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(23)|prostate(1)|skin(2)|urinary_tract(1)	46						c.(1339-1341)taT>taG		tubulin, gamma complex associated protein 5							121	121	121					15																	22851079		2203	4300	6503	SO:0001587	stop_gained	114791				G2/M transition of mitotic cell cycle|microtubule nucleation	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	microtubule binding	g.chr15:22851079T>G	AB067486	CCDS73697.1, CCDS73698.1	15q11.1	2014-04-17			ENSG00000153575	ENSG00000275835			18600	protein-coding gene	gene with protein product	"gamma-tubulin complex component GCP5"	608147				11694571	Standard	NM_052903		Approved	GCP5, KIAA1899	uc001yur.4	Q96RT8	OTTHUMG00000188371	ENST00000283645.4:c.1341T>G	15.37:g.22851079T>G	ENSP00000283645:p.Tyr447*					TUBGCP5_ENST00000559846.1_3'UTR|TUBGCP5_ENST00000453949.2_Nonsense_Mutation_p.Y447*	p.Y447*	NM_052903.4	NP_443135.3	Q96RT8	GCP5_HUMAN		all cancers(64;2.86e-06)|Epithelial(43;2.63e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000949)	11	1471	+		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)	447					E9PB12|Q6IQ52|Q96PY8	Nonsense_Mutation	SNP	ENST00000283645.4	37	c.1341T>G	CCDS10008.1	.	.	.	.	.	.	.	.	.	.	.	38	6.981543	0.97979	.	.	ENSG00000153575	ENST00000283645;ENST00000453949	.	.	.	5.62	-2.56	0.06268	.	0.127702	0.56097	D	0.000035	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-23.1597	11.5016	0.50441	0.0:0.437:0.0:0.563	.	.	.	.	X	447	.	ENSP00000283645:Y447X	Y	+	3	2	TUBGCP5	20402520	0.995000	0.38212	0.989000	0.46669	0.912000	0.54170	0.271000	0.18626	-0.396000	0.07703	-0.912000	0.02778	TAT		0.483	TUBGCP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250998.2	NM_052903		9	60	0	0	0	1	0	9	60					G	22851079	T	G	22851079	4	3	397	1	0	0	0	0	0	1	0	0	16766	1471	51	5	1383	5	TUBGCP5	15	22851079	Nonsense_Mutation	SNP	T	TCGA-V1-A9ZK-01A-11D-A41K-08		22851079	79680313	21	19418											
GLCE	26035	broad.mit.edu	37	chr15	69553493	69553493	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atccagattgcacagtatggAttaagtcattacagcaagaa	16	10	8	7	0	1	2	1	0	0	2	2	3	2	3	1	1	3	3	1	1	5	4			TCGA-V1-A9ZK-01A-11D-A41K-08	TCGA-V1-A9ZK-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3bf64ed-fc4c-48cf-bc4a-ade574edd020	e30e3059-aeee-4637-94d2-78520add854e	g.chr15:69553493A>T	ENST00000261858.2	+	4	882	c.654A>T	c.(652-654)ggA>ggT	p.G218G	GLCE_ENST00000559420.2_Silent_p.G154G|GLCE_ENST00000559500.1_3'UTR	NM_015554.1	NP_056369.1	O94923	GLCE_HUMAN	glucuronic acid epimerase	218					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparin biosynthetic process (GO:0030210)|small molecule metabolic process (GO:0044281)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	heparosan-N-sulfate-glucuronate 5-epimerase activity (GO:0047464)|racemase and epimerase activity, acting on carbohydrates and derivatives (GO:0016857)|UDP-glucuronate 5'-epimerase activity (GO:0050379)			NS(1)|breast(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	18						CACAGTATGGATTAAGTCATT	0.373																																						ENST00000261858.2																			0				NS(1)|breast(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	18						c.(652-654)ggA>ggT		glucuronic acid epimerase							120	110	113					15																	69553493		2200	4298	6498	SO:0001819	synonymous_variant	26035				heparan sulfate proteoglycan biosynthetic process|heparin biosynthetic process	Golgi membrane|integral to membrane	UDP-glucuronate 5'-epimerase activity	g.chr15:69553493A>T	AB020643	CCDS32277.1	15q23	2007-01-30	2007-01-30			ENSG00000138604	5.1.3.12		17855	protein-coding gene	gene with protein product	"heparan sulfate epimerase"	612134	"D-glucuronyl C5-epimerase", "UDP-glucuronic acid epimerase"			15853773	Standard	NM_015554		Approved	KIAA0836, HSEPI	uc002ary.1	O94923		ENST00000261858.2:c.654A>T	15.37:g.69553493A>T						GLCE_ENST00000559500.1_3'UTR|GLCE_ENST00000559420.2_Silent_p.G154G	p.G218G	NM_015554.1	NP_056369.1	O94923	GLCE_HUMAN			4	882	+			218					Q6GUQ2	Silent	SNP	ENST00000261858.2	37	c.654A>T	CCDS32277.1																																																																																				0.373	GLCE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_015554		17	78	0	0	0	1	0	17	78					T	69553493	A	T	69553493	2	4	397	1	0	0	0	0	0	0	0	1	6432	320	12	5		5	GLCE	15	69553493	Silent	SNP	A	TCGA-V1-A9ZK-01A-11D-A41K-08	46702414	69553493	32977899	22	19419											
MYO9A	4649	broad.mit.edu	37	chr15	72119078	72119078	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tctttaatttttgtttgcccTtttccgggttgaaggttcct	4	21	8	8	1	1	1	0	1	1	0	3	1	3	1	3	2	1	3	3	2	2	9			TCGA-V1-A9ZK-01A-11D-A41K-08	TCGA-V1-A9ZK-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3bf64ed-fc4c-48cf-bc4a-ade574edd020	e30e3059-aeee-4637-94d2-78520add854e	g.chr15:72119078T>G	ENST00000356056.5	-	42	7962	c.7490A>C	c.(7489-7491)aAg>aCg	p.K2497T	MYO9A_ENST00000424560.1_Missense_Mutation_p.K2568T|MYO9A_ENST00000444904.1_Missense_Mutation_p.K2478T|MYO9A_ENST00000564571.1_3'UTR	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN	myosin IXA	2497	Tail.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|visual perception (GO:0007601)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|unconventional myosin complex (GO:0016461)	ATP binding (GO:0005524)|GTPase activator activity (GO:0005096)|metal ion binding (GO:0046872)|motor activity (GO:0003774)			NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						TTGTTTGCCCTTTTCCGGGTT	0.488																																						ENST00000356056.5																			0				NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						c.(7489-7491)aAg>aCg		myosin IXA							160	164	163					15																	72119078		2199	4297	6496	SO:0001583	missense	4649				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception	cytosol|integral to membrane|unconventional myosin complex	actin binding|ATP binding|GTPase activator activity|metal ion binding|motor activity	g.chr15:72119078T>G	AF117888	CCDS10239.1	15q22-q23	2011-09-27			ENSG00000066933	ENSG00000066933		"Myosins / Myosin superfamily : Class IX"	7608	protein-coding gene	gene with protein product		604875				10409426	Standard	NM_006901		Approved	FLJ11061, FLJ13244, MGC71859	uc002atl.5	B2RTY4	OTTHUMG00000133440	ENST00000356056.5:c.7490A>C	15.37:g.72119078T>G	ENSP00000348349:p.Lys2497Thr					MYO9A_ENST00000424560.1_Missense_Mutation_p.K2568T|MYO9A_ENST00000564571.1_3'UTR|MYO9A_ENST00000444904.1_Missense_Mutation_p.K2478T	p.K2497T	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN			42	7962	-			2497			Tail.		B0I1T5|C9IYB3|C9JA86|Q14787|Q3YLD7|Q3YLD8|Q6P986|Q9H8T5|Q9NTG2|Q9NUY2|Q9UEP3|Q9UNJ2	Missense_Mutation	SNP	ENST00000356056.5	37	c.7490A>C	CCDS10239.1	.	.	.	.	.	.	.	.	.	.	T	14.34	2.506682	0.44558	.	.	ENSG00000066933	ENST00000356056;ENST00000424560;ENST00000444904	D;D;D	0.90444	-2.64;-2.67;-2.63	5.2	2.83	0.33086	.	.	.	.	.	D	0.86209	0.5878	L	0.34521	1.04	0.47698	D	0.999499	P;P	0.46706	0.883;0.836	B;P	0.46758	0.444;0.526	T	0.82715	-0.0320	9	0.72032	D	0.01	.	6.9767	0.24679	0.1332:0.0732:0.0:0.7935	.	2497;2261	B2RTY4;B2RTY4-5	MYO9A_HUMAN;.	T	2497;2568;2478	ENSP00000348349:K2497T;ENSP00000399162:K2568T;ENSP00000398250:K2478T	ENSP00000348349:K2497T	K	-	2	0	MYO9A	69906132	1.000000	0.71417	1.000000	0.80357	0.388000	0.30384	5.802000	0.69122	0.278000	0.22164	-0.490000	0.04691	AAG		0.488	MYO9A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257308.1	NM_006901		14	109	0	0	0	1	0	14	109					G	72119078	T	G	72119078	3	3	397	1	0	0	0	0	1	0	0	0	10084	1609	56	5	160	5	MYO9A	15	72119078	Missense_Mutation	SNP	T	TCGA-V1-A9ZK-01A-11D-A41K-08	2565585	72119078	30412314	23	19420											
ZNF232	7775	broad.mit.edu	37	chr17	5009416	5009416	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgaattctctgatgctgaccGaggtttgagctctgtttgaa	8	15	11	7	1	2	5	0	5	2	0	3	6	2	5	1	1	2	4	1	1	2	3			TCGA-V1-A9ZK-01A-11D-A41K-08	TCGA-V1-A9ZK-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3bf64ed-fc4c-48cf-bc4a-ade574edd020	e30e3059-aeee-4637-94d2-78520add854e	g.chr17:5009416G>A	ENST00000250076.3	-	5	1692	c.1038C>T	c.(1036-1038)ctC>ctT	p.L346L	ZNF232_ENST00000575898.1_Silent_p.L337L|ZNF232_ENST00000575538.1_5'Flank|ZNF232_ENST00000416429.2_3'UTR	NM_014519.2	NP_055334.2	Q9UNY5	ZN232_HUMAN	zinc finger protein 232	319					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			kidney(1)|large_intestine(2)|liver(1)|lung(4)|ovary(1)|prostate(2)	11						GATGCTGACCGAGGTTTGAGC	0.438																																						ENST00000250076.3																			0				kidney(1)|large_intestine(2)|liver(1)|lung(4)|ovary(1)|prostate(2)	11						c.(1036-1038)ctC>ctT		zinc finger protein 232							111	113	112					17																	5009416		2203	4300	6503	SO:0001819	synonymous_variant	7775				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr17:5009416G>A	AF080169	CCDS11068.1	17p13.2	2013-01-09			ENSG00000167840	ENSG00000167840		"-", "Zinc fingers, C2H2-type"	13026	protein-coding gene	gene with protein product						11311944	Standard	NM_014519		Approved	ZSCAN11	uc002gat.3	Q9UNY5	OTTHUMG00000099450	ENST00000250076.3:c.1038C>T	17.37:g.5009416G>A						ZNF232_ENST00000416429.2_3'UTR|ZNF232_ENST00000575898.1_Silent_p.L337L	p.L346L	NM_014519.2	NP_055334.2	Q9UNY5	ZN232_HUMAN			5	1692	-			319						Silent	SNP	ENST00000250076.3	37	c.1038C>T	CCDS11068.1																																																																																				0.438	ZNF232-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216915.1	NM_014519		5	133	0	0	0	1	0	5	133					A	5009416	G	A	5009416	2	1	397	1	0	0	0	0	0	0	0	1	17782	1045	37	2		2	ZNF232	17	5009416	Silent	SNP	G	TCGA-V1-A9ZK-01A-11D-A41K-08		5009416	76185794	24	19421											
SPOP	8405	broad.mit.edu	37	chr17	47696424	47696424	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tctctacggatgaatttcttGaatccccagtctttgccttg	7	16	7	11	1	3	2	0	2	3	0	5	3	4	3	3	1	2	0	3	1	3	5	rs193921065		TCGA-V1-A9ZK-01A-11D-A41K-08	TCGA-V1-A9ZK-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3bf64ed-fc4c-48cf-bc4a-ade574edd020	e30e3059-aeee-4637-94d2-78520add854e	g.chr17:47696424G>C	ENST00000393328.2	-	6	764	c.399C>G	c.(397-399)ttC>ttG	p.F133L	SPOP_ENST00000503676.1_Missense_Mutation_p.F133L|SPOP_ENST00000393331.3_Missense_Mutation_p.F133L|SPOP_ENST00000504102.1_Missense_Mutation_p.F133L|SPOP_ENST00000347630.2_Missense_Mutation_p.F133L|SPOP_ENST00000513080.1_5'Flank	NM_003563.3	NP_003554.1	O43791	SPOP_HUMAN	speckle-type POZ protein	133	Important for binding substrate proteins.|MATH. {ECO:0000255|PROSITE- ProRule:PRU00129}.|Required for nuclear localization.				glucose homeostasis (GO:0042593)|positive regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902237)|positive regulation of type B pancreatic cell apoptotic process (GO:2000676)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	Cul3-RING ubiquitin ligase complex (GO:0031463)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	ubiquitin protein ligase binding (GO:0031625)	p.F133L(7)		endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						TGAATTTCTTGAATCCCCAGT	0.448										Prostate(2;0.17)																												ENST00000393331.3																			7	Substitution - Missense(7)	p.F133L(7)	prostate(7)	endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						c.(397-399)ttC>ttG		speckle-type POZ protein							118	120	119					17																	47696424		2203	4300	6503	SO:0001583	missense	8405				mRNA processing	nucleus	protein binding	g.chr17:47696424G>C	AJ000644	CCDS11551.1	17q21.33	2013-01-09			ENSG00000121067	ENSG00000121067		"BTB/POZ domain containing"	11254	protein-coding gene	gene with protein product		602650				9414087	Standard	NM_001007227		Approved	TEF2, BTBD32	uc002ipg.3	O43791	OTTHUMG00000161496	ENST00000393328.2:c.399C>G	17.37:g.47696424G>C	ENSP00000377001:p.Phe133Leu	Prostate(2;0.17)				SPOP_ENST00000347630.2_Missense_Mutation_p.F133L|SPOP_ENST00000503676.1_Missense_Mutation_p.F133L|SPOP_ENST00000504102.1_Missense_Mutation_p.F133L|SPOP_ENST00000393328.2_Missense_Mutation_p.F133L	p.F133L	NM_001007226.1|NM_001007227.1	NP_001007227.1|NP_001007228.1	O43791	SPOP_HUMAN			7	869	-			133			MATH.|Required for nuclear localization.		B2R6S3|D3DTW7|Q53HJ1	Missense_Mutation	SNP	ENST00000393328.2	37	c.399C>G	CCDS11551.1	.	.	.	.	.	.	.	.	.	.	G	19.95	3.921613	0.73213	.	.	ENSG00000121067	ENST00000393328;ENST00000393331;ENST00000347630;ENST00000504102;ENST00000503536;ENST00000503676;ENST00000513872;ENST00000509079;ENST00000505581;ENST00000507970;ENST00000514121	T;T;T;T;T;T;T;T;T	0.41758	0.99;0.99;0.99;0.99;0.99;0.99;0.99;0.99;0.99	5.41	4.33	0.51752	TRAF-type (1);TRAF-like (1);MATH (3);	0.000000	0.85682	D	0.000000	T	0.58722	0.2142	M	0.80847	2.515	0.80722	D	1	P	0.52692	0.955	P	0.55087	0.768	T	0.62732	-0.6792	10	0.44086	T	0.13	-9.6576	13.4952	0.61421	0.0813:0.0:0.9187:0.0	.	133	O43791	SPOP_HUMAN	L	133;133;133;133;17;133;86;133;133;133;133	ENSP00000377001:F133L;ENSP00000377004:F133L;ENSP00000240327:F133L;ENSP00000425905:F133L;ENSP00000420908:F133L;ENSP00000426986:F133L;ENSP00000420960:F133L;ENSP00000426262:F133L;ENSP00000424119:F133L	ENSP00000240327:F133L	F	-	3	2	SPOP	45051423	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.591000	0.36665	1.345000	0.45676	0.563000	0.77884	TTC		0.448	SPOP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365154.2	NM_003563		19	120	0	0	0	1	0	19	120					C	47696424	G	C	47696424	3	2	397	1	0	0	0	0	1	0	0	0	15083	1281	45	5	749	5	SPOP	17	47696424	Missense_Mutation	SNP	G	TCGA-V1-A9ZK-01A-11D-A41K-08	42687008	47696424	33498786	25	19422											
RPTOR	57521	broad.mit.edu	37	chr17	78831653	78831653	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agagctcggcccgagagctgCggccacttctcgttttcatc	6	10	11	14	4	2	2	1	0	1	2	5	3	2	2	2	2	3	3	2	2	0	3			TCGA-V1-A9ZK-01A-11D-A41K-08	TCGA-V1-A9ZK-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3bf64ed-fc4c-48cf-bc4a-ade574edd020	e30e3059-aeee-4637-94d2-78520add854e	g.chr17:78831653C>G	ENST00000306801.3	+	13	1824	c.1462C>G	c.(1462-1464)Cgg>Ggg	p.R488G	RPTOR_ENST00000537330.1_Missense_Mutation_p.R303G|RPTOR_ENST00000544334.2_Missense_Mutation_p.R488G|RPTOR_ENST00000575542.1_3'UTR	NM_020761.2	NP_065812.1	Q8N122	RPTOR_HUMAN	regulatory associated protein of MTOR, complex 1	488					cell cycle arrest (GO:0007050)|cell growth (GO:0016049)|cellular response to amino acid stimulus (GO:0071230)|cellular response to nutrient levels (GO:0031669)|insulin receptor signaling pathway (GO:0008286)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of TOR signaling (GO:0032008)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|regulation of cell size (GO:0008361)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|TORC1 complex (GO:0031931)	14-3-3 protein binding (GO:0071889)|protein complex binding (GO:0032403)|protein kinase binding (GO:0019901)|RNA polymerase III type 1 promoter DNA binding (GO:0001030)|RNA polymerase III type 2 promoter DNA binding (GO:0001031)|RNA polymerase III type 3 promoter DNA binding (GO:0001032)|TFIIIC-class transcription factor binding (GO:0001156)			breast(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3)	44						CCGAGAGCTGCGGCCACTTCT	0.652																																						ENST00000306801.3																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3)	44						c.(1462-1464)Cgg>Ggg		regulatory associated protein of MTOR, complex 1							72	65	68					17																	78831653		2203	4300	6503	SO:0001583	missense	57521				cell cycle arrest|cell growth|cellular response to amino acid stimulus|cellular response to nutrient levels|insulin receptor signaling pathway|positive regulation of protein serine/threonine kinase activity|positive regulation of TOR signaling cascade|TOR signaling cascade	cytosol|lysosome|TORC1 complex	protein complex binding	g.chr17:78831653C>G		CCDS11773.1, CCDS54175.1	17q25.3	2013-01-10				ENSG00000141564		"WD repeat domain containing"	30287	protein-coding gene	gene with protein product	"regulatory associated protein of mTOR"	607130				10718198, 12150926	Standard	NM_001163034		Approved	KOG1, Mip1, KIAA1303, raptor	uc002jyt.1	Q8N122		ENST00000306801.3:c.1462C>G	17.37:g.78831653C>G	ENSP00000307272:p.Arg488Gly					RPTOR_ENST00000537330.1_Missense_Mutation_p.R303G|RPTOR_ENST00000544334.2_Missense_Mutation_p.R488G|RPTOR_ENST00000575542.1_3'UTR	p.R488G	NM_020761.2	NP_065812.1	Q8N122	RPTOR_HUMAN			13	1824	+			488					B2RN36|C6KEF2|F5H7J5|Q8N4V9|Q8TB32|Q9P2P3	Missense_Mutation	SNP	ENST00000306801.3	37	c.1462C>G	CCDS11773.1	.	.	.	.	.	.	.	.	.	.	C	18.64	3.667593	0.67814	.	.	ENSG00000141564	ENST00000537330;ENST00000306801;ENST00000544334	T;T;T	0.52057	0.68;0.68;0.68	5.19	0.205	0.15204	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.64402	D	0.000002	T	0.70850	0.3271	M	0.90542	3.125	0.58432	D	0.999995	D;D;D	0.89917	0.992;0.999;1.0	D;D;D	0.72982	0.979;0.951;0.979	T	0.77661	-0.2504	10	0.66056	D	0.02	.	14.3938	0.66999	0.6205:0.3795:0.0:0.0	.	488;303;488	F5H7J5;F5GXV9;Q8N122	.;.;RPTOR_HUMAN	G	303;488;488	ENSP00000440947:R303G;ENSP00000307272:R488G;ENSP00000442479:R488G	ENSP00000307272:R488G	R	+	1	2	RPTOR	76446248	1.000000	0.71417	0.999000	0.59377	0.970000	0.65996	1.628000	0.37060	0.160000	0.19432	-0.467000	0.05162	CGG		0.652	RPTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438125.1	NM_020761		5	30	0	0	0	1	0	5	30					G	78831653	C	G	78831653	3	3	397	1	0	0	0	0	1	0	0	0	13665	759	27	5	1512	5	RPTOR	17	78831653	Missense_Mutation	SNP	C	TCGA-V1-A9ZK-01A-11D-A41K-08	31135229	78831653	2363557	26	19423											
ZNF93	81931	broad.mit.edu	37	chr19	20045269	20045270	+	Frame_Shift_Del	DEL	TT	TT	-																															ccttactaaacataagaaaaTtcatactggagagaaaccct																								rs150239312	byFrequency	TCGA-V1-A9ZK-01A-11D-A41K-08	TCGA-V1-A9ZK-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3bf64ed-fc4c-48cf-bc4a-ade574edd020	e30e3059-aeee-4637-94d2-78520add854e	g.chr19:20045269_20045270delTT	ENST00000343769.5	+	4	1533_1534	c.1505_1506delTT	c.(1504-1506)attfs	p.I502fs	AC007204.2_ENST00000592245.1_lincRNA	NM_031218.3	NP_112495.2	P35789	ZNF93_HUMAN	zinc finger protein 93	502					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			endometrium(6)|kidney(2)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	24						CATAAGAAAATTCATACTGGAG	0.347																																						ENST00000343769.5																			0				endometrium(6)|kidney(2)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	24						c.(1504-1506)afs		zinc finger protein 93																																				SO:0001589	frameshift_variant	81931					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:20045269_20045270delTT	M61873	CCDS32973.1	19p12	2014-02-12	2006-05-12		ENSG00000184635	ENSG00000184635		"Zinc fingers, C2H2-type", "-"	13169	protein-coding gene	gene with protein product		603975	"zinc finger protein 505", "zinc finger protein 93 (HTF34)"	ZNF505		8467795, 2023909	Standard	NM_031218		Approved	HPF34, TF34, FLJ12488	uc002non.3	P35789	OTTHUMG00000182371	ENST00000343769.5:c.1505_1506delTT	19.37:g.20045269_20045270delTT	ENSP00000342002:p.Ile502fs					AC007204.2_ENST00000592245.1_lincRNA	p.I502fs	NM_031218.3	NP_112495.2	P35789	ZNF93_HUMAN			4	1533_1534	+			502					A6NMY2|B9EGT2|Q8N8Q4|Q9H9X5|Q9Y2N8	Frame_Shift_Del	DEL	ENST00000343769.5	37	c.1505_1506delTT	CCDS32973.1																																																																																				0.347	ZNF93-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460808.2	NM_031218		19	98						19	98	---	---	---	---	-	20045270	TT	-	20045269	7	5	397	1	0	1	0	1	0	0	0	0	18199	1493	52	0	1519	0	ZNF93	19	20045269	Frame_Shift_Del	DEL	TT	TCGA-V1-A9ZK-01A-11D-A41K-08		20045269	39083714	27	19424											
MED15	51586	broad.mit.edu	37	chr22	20929420	20929420	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	atgatcacggaagccttggcCcaaggtgggatgcacataag	12	7	13	9	1	1	1	1	1	0	0	1	3	1	3	2	4	2	1	2	4	3	2			TCGA-V1-A9ZK-01A-11D-A41K-08	TCGA-V1-A9ZK-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3bf64ed-fc4c-48cf-bc4a-ade574edd020	e30e3059-aeee-4637-94d2-78520add854e	g.chr22:20929420C>G	ENST00000263205.7	+	9	1242	c.1173C>G	c.(1171-1173)gcC>gcG	p.A391A	MED15_ENST00000292733.7_Intron|MED15_ENST00000425759.2_Intron|MED15_ENST00000382974.2_Intron|MED15_ENST00000541476.1_Intron|MED15_ENST00000542773.1_Intron|MED15_ENST00000406969.1_Intron|MED15_ENST00000478831.1_Intron	NM_001003891.1	NP_001003891.1	Q96RN5	MED15_HUMAN	mediator complex subunit 15	391	Pro-rich.				gene expression (GO:0010467)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	RNA polymerase II transcription cofactor activity (GO:0001104)			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	25	all_cancers(11;2.07e-24)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)|Epithelial(17;0.209)			AAGCCTTGGCCCAAGGTGGGA	0.587																																						ENST00000263205.7																			0				central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	25						c.(1171-1173)gcC>gcG		mediator complex subunit 15							168	154	159					22																	20929420		2203	4300	6503	SO:0001819	synonymous_variant	51586				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|mediator complex	protein binding	g.chr22:20929420C>G	AF056191	CCDS13781.1, CCDS33602.1, CCDS74824.1	22q11.2	2007-07-30	2007-07-30	2007-07-30	ENSG00000099917	ENSG00000099917			14248	protein-coding gene	gene with protein product		607372	"trinucleotide repeat containing 7", "PC2 (positive cofactor 2, multiprotein complex) glutamine/Q-rich-associated protein"	TNRC7, PCQAP		11024300, 11414760, 15175163	Standard	XM_005261632		Approved	TIG-1, CAG7A, Arc105	uc002zsp.3	Q96RN5	OTTHUMG00000150810	ENST00000263205.7:c.1173C>G	22.37:g.20929420C>G						MED15_ENST00000382974.2_Intron|MED15_ENST00000425759.2_Intron|MED15_ENST00000406969.1_Intron|MED15_ENST00000542773.1_Intron|MED15_ENST00000292733.7_Intron|MED15_ENST00000541476.1_Intron|MED15_ENST00000478831.1_Intron	p.A391A	NM_001003891.1	NP_001003891.1	Q96RN5	MED15_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)|Epithelial(17;0.209)		9	1242	+	all_cancers(11;2.07e-24)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	391			Pro-rich.		D3DX31|D3DX32|O15413|Q6IC31|Q8NF16|Q96CT0|Q96IH7|Q9P1T3	Silent	SNP	ENST00000263205.7	37	c.1173C>G	CCDS33602.1																																																																																				0.587	MED15-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000320177.2	NM_015889		6	141	0	0	0	1	0	6	141					G	20929420	C	G	20929420	2	3	397	1	0	0	0	0	0	0	0	1	9433	610	22	5		5	MED15	22	20929420	Silent	SNP	C	TCGA-V1-A9ZK-01A-11D-A41K-08		20929420	30375146	28	19425											
FAM120C	54954	broad.mit.edu	37	chrX	54209302	54209303	+	In_Frame_Ins	INS	-	-	GGCGGC																															gggccccgggcagctgagggINSggcggcggcggcggcagcgg																										TCGA-V1-A9ZK-01A-11D-A41K-08	TCGA-V1-A9ZK-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3bf64ed-fc4c-48cf-bc4a-ade574edd020	e30e3059-aeee-4637-94d2-78520add854e	g.chrX:54209302_54209303insGGCGGC	ENST00000375180.2	-	1	385_386	c.329_330insGCCGCC	c.(328-330)ccc>ccGCCGCCc	p.110_110P>PPP	FAM120C_ENST00000497680.1_5'Flank|FAM120C_ENST00000328235.4_In_Frame_Ins_p.110_110P>PPP|FAM120C_ENST00000477084.1_In_Frame_Ins_p.110_110P>PPP	NM_017848.4	NP_060318.3	Q9NX05	F120C_HUMAN	family with sequence similarity 120C	110							poly(A) RNA binding (GO:0044822)			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						GCAGCTGAGGGGGCGGCGGCGG	0.748														77	0.0203974	0.0045	0.0159	3775	,	,		9228	0		0.0467	False		,,,				2504	0.0133					ENST00000375180.2																			0				breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						c.(328-330)ccc>cGCCGCCcc		family with sequence similarity 120C																																				SO:0001652	inframe_insertion	54954							g.chrX:54209302_54209303insGGCGGC	AY150025	CCDS14356.1, CCDS55421.1, CCDS75987.1	Xp11.22	2011-04-13	2006-07-04	2006-07-04	ENSG00000184083	ENSG00000184083			16949	protein-coding gene	gene with protein product		300741	"chromosome X open reading frame 17"	CXorf17		14585507	Standard	XM_006724589		Approved	ORF34, FLJ20506	uc004dsz.4	Q9NX05	OTTHUMG00000021625	ENST00000375180.2:c.324_329dupGCCGCC	X.37:g.54209303_54209308dupGGCGGC	ENSP00000364324:p.ProPro110dup					FAM120C_ENST00000477084.1_In_Frame_Ins_p.109_110insRR|FAM120C_ENST00000328235.4_In_Frame_Ins_p.109_110insRR	p.109_110insRR	NM_017848.4	NP_060318.3	Q9NX05	F120C_HUMAN			1	385_386	-			109					B2RMT7	In_Frame_Ins	INS	ENST00000375180.2	37	c.329_330insGCCGCC	CCDS14356.1																																																																																				0.748	FAM120C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056795.2	NM_017848		5	4						5	4	---	---	---	---	GGCGGC	54209303	-	GGCGGC	54209302	7	5	397	1	0	1	1	0	0	0	0	0	5418	1219	43	0	3046	0	FAM120C	23	54209302	In_Frame_Ins	INS	-	TCGA-V1-A9ZK-01A-11D-A41K-08		54209302	101061258	29	19426											
PUM1	9698	broad.mit.edu	37	chr1	31423093	31423093	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttctgccaaagccagcttctGttcaagactgccaaactaga	12	10	7	12	0	3	2	1	0	2	2	3	2	3	2	3	0	5	2	3	0	4	4			TCGA-V1-A9ZR-01A-11D-A41K-08	TCGA-V1-A9ZR-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1161c64b-4a41-4fce-a9d4-73d4f091c044	a78aaabf-765f-422c-80b1-597ef3a0c26d	g.chr1:31423093G>C	ENST00000257075.5	-	17	2830	c.2737C>G	c.(2737-2739)Cag>Gag	p.Q913E	PUM1_ENST00000373742.2_Missense_Mutation_p.Q854E|SNORD103B_ENST00000365237.1_RNA|PUM1_ENST00000423018.2_Missense_Mutation_p.Q769E|PUM1_ENST00000426105.2_Missense_Mutation_p.Q913E|PUM1_ENST00000373747.3_Missense_Mutation_p.Q914E|PUM1_ENST00000373741.4_Missense_Mutation_p.Q949E|PUM1_ENST00000424085.2_Missense_Mutation_p.Q671E|PUM1_ENST00000440538.2_Missense_Mutation_p.Q887E	NM_014676.2	NP_055491.1	Q14671	PUM1_HUMAN	pumilio RNA-binding family member 1	913	PUM-HD. {ECO:0000255|PROSITE- ProRule:PRU00318}.				membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of translation (GO:0006417)	cytosol (GO:0005829)	poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(17)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	48		Colorectal(325;0.0211)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0381)|Breast(348;0.0848)|Medulloblastoma(700;0.123)		STAD - Stomach adenocarcinoma(196;0.0232)|READ - Rectum adenocarcinoma(331;0.0681)		GCCAGCTTCTGTTCAAGACTG	0.428																																						ENST00000373747.3																			0				breast(1)|central_nervous_system(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(17)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						c.(2740-2742)Cag>Gag		pumilio RNA-binding family member 1							88	83	85					1																	31423093		2203	4300	6503	SO:0001583	missense	9698				cellular membrane organization|post-Golgi vesicle-mediated transport|regulation of translation	cytosol	RNA binding	g.chr1:31423093G>C	AF315592	CCDS338.1, CCDS44099.1	1p35.2	2013-09-02	2013-09-02		ENSG00000134644	ENSG00000134644			14957	protein-coding gene	gene with protein product		607204	"pumilio (Drosophila) homolog 1", "pumilio homolog 1 (Drosophila)"				Standard	NM_001020658		Approved	PUMH1, KIAA0099	uc001bsh.1	Q14671	OTTHUMG00000003795	ENST00000257075.5:c.2737C>G	1.37:g.31423093G>C	ENSP00000257075:p.Gln913Glu					PUM1_ENST00000373742.2_Missense_Mutation_p.Q854E|PUM1_ENST00000440538.2_Missense_Mutation_p.Q887E|PUM1_ENST00000257075.5_Missense_Mutation_p.Q913E|PUM1_ENST00000426105.2_Missense_Mutation_p.Q913E|PUM1_ENST00000424085.2_Missense_Mutation_p.Q671E|PUM1_ENST00000423018.2_Missense_Mutation_p.Q769E|PUM1_ENST00000373741.4_Missense_Mutation_p.Q949E	p.Q914E	NM_001020658.1	NP_001018494.1	Q14671	PUM1_HUMAN		STAD - Stomach adenocarcinoma(196;0.0232)|READ - Rectum adenocarcinoma(331;0.0681)	17	2839	-		Colorectal(325;0.0211)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0381)|Breast(348;0.0848)|Medulloblastoma(700;0.123)	913			PUM-HD.		A8K6W4|B4DG92|D3DPN3|E9PCJ0|Q53HH5|Q5VXY7|Q9HAN1	Missense_Mutation	SNP	ENST00000257075.5	37	c.2740C>G	CCDS338.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	G|G|G	26.8|26.8|26.8	4.769787|4.769787|4.769787	0.90020|0.90020|0.90020	.|.|.	.|.|.	ENSG00000134644|ENSG00000134644|ENSG00000134644	ENST00000525997|ENST00000424085;ENST00000257075;ENST00000373747;ENST00000373749;ENST00000426105;ENST00000440538;ENST00000373741;ENST00000423018;ENST00000373742;ENST00000529846|ENST00000525843;ENST00000498419	.|T;T;T;T;T;T;T;T;T|.	.|0.15952|.	.|2.38;2.38;2.38;2.38;2.38;2.38;2.38;2.38;2.38|.	5.26|5.26|5.26	5.26|5.26|5.26	0.73747|0.73747|0.73747	.|Armadillo-like helical (1);Armadillo-type fold (1);|.	.|0.000000|.	.|0.85682|.	.|D|.	.|0.000000|.	D|D|D	0.82309|0.82309|0.82309	0.5009|0.5009|0.5009	M|M|M	0.83483|0.83483|0.83483	2.645|2.645|2.645	0.80722|0.80722|0.80722	D|D|D	1|1|1	.|D;D;P;D;D;P;D;D|.	.|0.89917|.	.|0.999;1.0;0.71;0.988;0.998;0.909;0.999;0.999|.	.|D;D;B;P;D;P;D;D|.	.|0.78314|.	.|0.991;0.991;0.323;0.759;0.986;0.522;0.991;0.991|.	T|T|T	0.83054|0.83054|0.83054	-0.0151|-0.0151|-0.0151	5|10|5	.|0.66056|.	.|D|.	.|0.02|.	-4.9243|-4.9243|-4.9243	19.0759|19.0759|19.0759	0.93161|0.93161|0.93161	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.|.	.|854;769;949;887;913;913;914;913|.	.|B4DG92;E7EWT3;Q5T1Z8;Q14671-2;Q14671;E9PCJ0;Q5T1Z4;Q53HH5|.	.|.;.;.;.;PUM1_HUMAN;.;.;.|.	K|E|R	59|671;913;914;651;913;887;949;769;854;64|851;624	.|ENSP00000400141:Q671E;ENSP00000257075:Q913E;ENSP00000362852:Q914E;ENSP00000391723:Q913E;ENSP00000401777:Q887E;ENSP00000362846:Q949E;ENSP00000399440:Q769E;ENSP00000362847:Q854E;ENSP00000431213:Q64E|.	.|ENSP00000257075:Q913E|.	N|Q|T	-|-|-	3|1|2	2|0|0	PUM1|PUM1|PUM1	31195680|31195680|31195680	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.998000|0.998000|0.998000	0.95712|0.95712|0.95712	9.657000|9.657000|9.657000	0.98554|0.98554|0.98554	2.739000|2.739000|2.739000	0.93911|0.93911|0.93911	0.655000|0.655000|0.655000	0.94253|0.94253|0.94253	AAC|CAG|ACA		0.428	PUM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000010671.1			8	35	0	0	0	1	0	8	35					C	31423093	G	C	31423093	3	2	398	1	0	0	0	0	1	0	0	0	12825	1386	48	5	853	5	PUM1	1	31423093	Missense_Mutation	SNP	G	TCGA-V1-A9ZR-01A-11D-A41K-08		31423093	217827528	1	19427											
AHCYL1	10768	broad.mit.edu	37	chr1	110563392	110563392	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gcatctgccatcatttgatgCccaccttacagagctgacag	10	10	8	13	0	2	3	1	2	1	1	2	3	2	3	3	0	4	2	3	0	1	2			TCGA-V1-A9ZR-01A-11D-A41K-08	TCGA-V1-A9ZR-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1161c64b-4a41-4fce-a9d4-73d4f091c044	a78aaabf-765f-422c-80b1-597ef3a0c26d	g.chr1:110563392C>T	ENST00000369799.5	+	16	1872	c.1505C>T	c.(1504-1506)gCc>gTc	p.A502V	AHCYL1_ENST00000359172.3_Missense_Mutation_p.A455V|AHCYL1_ENST00000393614.4_Missense_Mutation_p.A455V	NM_001242673.1|NM_001242674.1|NM_006621.5	NP_001229602.1|NP_001229603.1|NP_006612.2	O43865	SAHH2_HUMAN	adenosylhomocysteinase-like 1	502					mRNA polyadenylation (GO:0006378)|one-carbon metabolic process (GO:0006730)|positive regulation of sodium ion transport (GO:0010765)|protein export from nucleus (GO:0006611)|regulation of anion transport (GO:0044070)|regulation of ion transmembrane transporter activity (GO:0032412)|regulation of mRNA 3'-end processing (GO:0031440)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)	adenosylhomocysteinase activity (GO:0004013)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)	18		all_epithelial(167;3.58e-05)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0259)|Colorectal(144;0.123)|all cancers(265;0.134)|Epithelial(280;0.141)|LUSC - Lung squamous cell carcinoma(189;0.143)		TCATTTGATGCCCACCTTACA	0.433																																						ENST00000369799.5																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)	18						c.(1504-1506)gCc>gTc		adenosylhomocysteinase-like 1							155	161	159					1																	110563392		2203	4300	6503	SO:0001583	missense	10768				one-carbon metabolic process	endoplasmic reticulum	adenosylhomocysteinase activity	g.chr1:110563392C>T	U82761	CCDS818.1, CCDS55620.1	1p13	2014-06-12	2009-06-12		ENSG00000168710	ENSG00000168710			344	protein-coding gene	gene with protein product	"inositol 1,4,5-trisphosphate receptor-binding protein", "protein phosphatase 1, regulatory subunit 78"	607826	"S-adenosylhomocysteine hydrolase-like 1"			11904675, 16754674, 12525476	Standard	NM_006621		Approved	XPVKONA, IRBIT, PPP1R78	uc001dyx.3	O43865	OTTHUMG00000011652	ENST00000369799.5:c.1505C>T	1.37:g.110563392C>T	ENSP00000358814:p.Ala502Val					AHCYL1_ENST00000393614.4_Missense_Mutation_p.A455V|AHCYL1_ENST00000359172.3_Missense_Mutation_p.A455V	p.A502V	NM_001242673.1|NM_001242674.1|NM_006621.5	NP_001229602.1|NP_001229603.1|NP_006612.2	O43865	SAHH2_HUMAN		Lung(183;0.0259)|Colorectal(144;0.123)|all cancers(265;0.134)|Epithelial(280;0.141)|LUSC - Lung squamous cell carcinoma(189;0.143)	16	1872	+		all_epithelial(167;3.58e-05)|all_lung(203;0.000116)|Lung NSC(277;0.000233)	502					B4E168|Q2TAJ6|Q502W8|Q5VSM0|Q6P171|Q96PK4|Q9UG84	Missense_Mutation	SNP	ENST00000369799.5	37	c.1505C>T	CCDS818.1	.	.	.	.	.	.	.	.	.	.	C	33	5.241332	0.95272	.	.	ENSG00000168710	ENST00000369799;ENST00000359172;ENST00000393614	T;T;T	0.75367	-0.93;-0.93;-0.93	5.94	5.94	0.96194	.	0.046774	0.85682	D	0.000000	T	0.74298	0.3698	L	0.37800	1.135	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	T	0.66412	-0.5930	10	0.10377	T	0.69	-8.6355	20.3736	0.98901	0.0:1.0:0.0:0.0	.	502	O43865	SAHH2_HUMAN	V	502;455;455	ENSP00000358814:A502V;ENSP00000352092:A455V;ENSP00000377238:A455V	ENSP00000352092:A455V	A	+	2	0	AHCYL1	110364915	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.794000	0.85869	2.820000	0.97059	0.650000	0.86243	GCC		0.433	AHCYL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032243.1			4	153	0	0	0	1	0	4	153					T	110563392	C	T	110563392	3	4	398	1	0	0	0	0	1	0	0	0	410	739	26	3	1567	3	AHCYL1	1	110563392	Missense_Mutation	SNP	C	TCGA-V1-A9ZR-01A-11D-A41K-08	79140299	110563392	138687229	2	19428											
LCE1E	353135	broad.mit.edu	37	chr1	152760036	152760036	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggcaccacaggtcccaccgTcacagaccccagagctctga	11	4	9	17	1	2	3	1	1	1	2	3	3	3	3	5	2	1	2	5	2	0	0			TCGA-V1-A9ZR-01A-11D-A41K-08	TCGA-V1-A9ZR-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1161c64b-4a41-4fce-a9d4-73d4f091c044	a78aaabf-765f-422c-80b1-597ef3a0c26d	g.chr1:152760036T>C	ENST00000368770.3	+	2	314	c.261T>C	c.(259-261)cgT>cgC	p.R87R	LCE1E_ENST00000368771.1_Silent_p.R87R	NM_178353.1	NP_848130.1	Q5T753	LCE1E_HUMAN	late cornified envelope 1E	87	Cys-rich.				keratinization (GO:0031424)					lung(5)|stomach(1)	6	Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			GGTCCCACCGTCACAGACCCC	0.692																																						ENST00000368770.3																			0				lung(5)|stomach(1)	6						c.(259-261)cgT>cgC		late cornified envelope 1E							36	47	43					1																	152760036		2198	4299	6497	SO:0001819	synonymous_variant	353135				keratinization			g.chr1:152760036T>C	BC038391	CCDS1024.1	1q21.3	2008-02-05			ENSG00000186226	ENSG00000186226		"Late cornified envelopes"	29466	protein-coding gene	gene with protein product		612607				11698679	Standard	NM_178353		Approved	LEP5	uc001fan.3	Q5T753	OTTHUMG00000012405	ENST00000368770.3:c.261T>C	1.37:g.152760036T>C						LCE1E_ENST00000368771.1_Silent_p.R87R	p.R87R	NM_178353.1	NP_848130.1	Q5T753	LCE1E_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	314	+	Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		87			Cys-rich.		D3DV30	Silent	SNP	ENST00000368770.3	37	c.261T>C	CCDS1024.1																																																																																				0.692	LCE1E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034525.1	NM_178353		16	47	0	0	0	1	0	16	47					C	152760036	T	C	152760036	2	2	398	1	0	0	0	0	0	0	0	1	8663	1654	58	4		4	LCE1E	1	152760036	Silent	SNP	T	TCGA-V1-A9ZR-01A-11D-A41K-08	42196644	152760036	96490585	3	19429											
ETV3L	440695	broad.mit.edu	37	chr1	157068525	157068525	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgcacacccacgggcaccagCgctggccgacacagggcagg	9	2	14	16	3	0	0	0	0	0	0	0	1	0	0	3	4	2	4	3	4	0	0	rs550855165		TCGA-V1-A9ZR-01A-11D-A41K-08	TCGA-V1-A9ZR-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1161c64b-4a41-4fce-a9d4-73d4f091c044	a78aaabf-765f-422c-80b1-597ef3a0c26d	g.chr1:157068525C>T	ENST00000454449.2	-	3	743	c.459G>A	c.(457-459)gcG>gcA	p.A153A		NM_001004341.2	NP_001004341.1	Q6ZN32	ETV3L_HUMAN	ets variant 3-like	153					cell differentiation (GO:0030154)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24	Hepatocellular(266;0.158)	Prostate(1639;0.184)				CGGGCACCAGCGCTGGCCGAC	0.662																																						ENST00000454449.2																			0				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24						c.(457-459)gcG>gcA		ets variant 3-like							35	39	37					1																	157068525		2202	4300	6502	SO:0001819	synonymous_variant	440695					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr1:157068525C>T	AK131392	CCDS30893.1	1q23.1	2013-09-24	2008-09-12		ENSG00000253831	ENSG00000253831			33834	protein-coding gene	gene with protein product			"ets variant gene 3-like"				Standard	NM_001004341		Approved	FLJ16478	uc001fqq.2	Q6ZN32	OTTHUMG00000041325	ENST00000454449.2:c.459G>A	1.37:g.157068525C>T							p.A153A	NM_001004341.2	NP_001004341.1	Q6ZN32	ETV3L_HUMAN			3	743	-	Hepatocellular(266;0.158)	Prostate(1639;0.184)	153						Silent	SNP	ENST00000454449.2	37	c.459G>A	CCDS30893.1																																																																																				0.662	ETV3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000099024.2	NM_001004341		10	45	0	0	0	1	0	10	45					T	157068525	C	T	157068525	2	4	398	1	0	0	0	0	0	0	0	1	5280	755	27	1		1	ETV3L	1	157068525	Silent	SNP	C	TCGA-V1-A9ZR-01A-11D-A41K-08	4308489	157068525	92182096	4	19430											
C2orf34	79823	broad.mit.edu	37	chr2	44599893	44599893	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggatgattgcctgcgacaTgtatctgtaagaagatttga	11	13	11	6	1	1	4	0	2	1	2	1	6	1	5	1	1	2	2	1	1	3	4	rs369307588		TCGA-V1-A9ZR-01A-11D-A41K-08	TCGA-V1-A9ZR-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1161c64b-4a41-4fce-a9d4-73d4f091c044	a78aaabf-765f-422c-80b1-597ef3a0c26d	g.chr2:44599893T>A	ENST00000378494.3	+	2	221	c.177T>A	c.(175-177)caT>caA	p.H59Q	CAMKMT_ENST00000477623.1_Intron|CAMKMT_ENST00000407131.1_Missense_Mutation_p.H59Q|CAMKMT_ENST00000402247.1_Missense_Mutation_p.H59Q|CAMKMT_ENST00000403853.3_Missense_Mutation_p.H59Q	NM_024766.4	NP_079042.1	Q7Z624	CMKMT_HUMAN	calmodulin-lysine N-methyltransferase	59						Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	calmodulin-lysine N-methyltransferase activity (GO:0018025)			breast(2)|large_intestine(3)|lung(5)	10						GCCTGCGACATGTATCTGTAA	0.358																																						ENST00000378494.3																			0				breast(2)|large_intestine(3)|lung(5)	10						c.(175-177)caT>caA		calmodulin-lysine N-methyltransferase							120	126	124					2																	44599893		2203	4300	6503	SO:0001583	missense	79823					cytoplasm	calmodulin-lysine N-methyltransferase activity	g.chr2:44599893T>A		CCDS1820.1	2p21	2011-06-22	2011-03-10	2011-03-10	ENSG00000143919	ENSG00000143919	2.1.1.60		26276	protein-coding gene	gene with protein product	"CaM KMT"	609559	"chromosome 2 open reading frame 34"	C2orf34		20975703	Standard	NM_024766		Approved	CLNMT	uc002rum.3	Q7Z624	OTTHUMG00000128761	ENST00000378494.3:c.177T>A	2.37:g.44599893T>A	ENSP00000367755:p.His59Gln					CAMKMT_ENST00000407131.1_Missense_Mutation_p.H59Q|CAMKMT_ENST00000402247.1_Missense_Mutation_p.H59Q|CAMKMT_ENST00000403853.3_Missense_Mutation_p.H59Q|CAMKMT_ENST00000477623.1_Intron	p.H59Q	NM_024766.3	NP_079042.1	Q7Z624	CMKMT_HUMAN			2	221	+			59					Q4ZG15|Q53SS6|Q8N6P5|Q9H5G8	Missense_Mutation	SNP	ENST00000378494.3	37	c.177T>A	CCDS1820.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	8.940|8.940	0.965584|0.965584	0.18583|0.18583	.|.	.|.	ENSG00000143919|ENSG00000143919	ENST00000428929|ENST00000402247;ENST00000454848;ENST00000407131;ENST00000378494;ENST00000403853	.|.	.|.	.|.	5.75|5.75	-3.15|-3.15	0.05233|0.05233	.|.	.|0.361231	.|0.23658	.|N	.|0.045854	T|T	0.23688|0.23688	0.0573|0.0573	L|L	0.39898|0.39898	1.24|1.24	0.24802|0.24802	N|N	0.992699|0.992699	.|B;B	.|0.24823	.|0.001;0.112	.|B;B	.|0.20384	.|0.002;0.029	T|T	0.20405|0.20405	-1.0276|-1.0276	5|9	.|0.16896	.|T	.|0.51	-3.0896|-3.0896	6.4483|6.4483	0.21890|0.21890	0.2326:0.4508:0.0:0.3166|0.2326:0.4508:0.0:0.3166	.|.	.|59;59	.|Q7Z624;Q7Z624-2	.|CMKMT_HUMAN;.	S|Q	5|59	.|.	.|ENSP00000367755:H59Q	C|H	+|+	1|3	0|2	CAMKMT|CAMKMT	44453397|44453397	0.818000|0.818000	0.29161|0.29161	0.767000|0.767000	0.31495|0.31495	0.997000|0.997000	0.91878|0.91878	-0.149000|-0.149000	0.10204|0.10204	-0.126000|-0.126000	0.11682|0.11682	0.533000|0.533000	0.62120|0.62120	TGT|CAT		0.358	CAMKMT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250678.2	NM_024766		17	51	0	0	0	1	0	17	51					A	44599893	T	A	44599893	3	1	398	1	0	0	0	0	1	0	0	0	2163	1461	51	5	183	5	C2orf34	2	44599893	Missense_Mutation	SNP	T	TCGA-V1-A9ZR-01A-11D-A41K-08		44599893	198599480	5	19431											
ARMC9	80210	broad.mit.edu	37	chr2	232104723	232104723	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagatgcggcagagcctggCgcatagtgtggacttcacga	9	7	14	11	3	1	2	1	0	0	2	1	4	1	3	2	3	2	2	2	3	1	2			TCGA-V1-A9ZR-01A-11D-A41K-08	TCGA-V1-A9ZR-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1161c64b-4a41-4fce-a9d4-73d4f091c044	a78aaabf-765f-422c-80b1-597ef3a0c26d	g.chr2:232104723C>T	ENST00000349938.4	+	9	1042	c.848C>T	c.(847-849)gCg>gTg	p.A283V	ARMC9_ENST00000483477.1_3'UTR	NM_001271466.1|NM_025139.4	NP_001258395.1|NP_079415	Q7Z3E5	ARMC9_HUMAN	armadillo repeat containing 9	283						extracellular vesicular exosome (GO:0070062)				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22		Renal(207;0.0112)|all_lung(227;0.0744)|all_hematologic(139;0.0749)|Acute lymphoblastic leukemia(138;0.167)|Medulloblastoma(418;0.184)|Lung NSC(271;0.205)		Epithelial(121;1.43e-10)|LUSC - Lung squamous cell carcinoma(224;0.017)|Lung(119;0.0189)		CAGAGCCTGGCGCATAGTGTG	0.552																																						ENST00000349938.4																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						c.(847-849)gCg>gTg		armadillo repeat containing 9							74	59	64					2																	232104723		2203	4300	6503	SO:0001583	missense	80210						binding	g.chr2:232104723C>T	BC004514	CCDS2484.1, CCDS74666.1	2q37.1	2013-02-14			ENSG00000135931	ENSG00000135931		"Armadillo repeat containing"	20730	protein-coding gene	gene with protein product						11347906	Standard	NM_025139		Approved	FLJ12584, KIAA1868, ARM, KU-MEL-1	uc031rrs.1	Q7Z3E5	OTTHUMG00000133229	ENST00000349938.4:c.848C>T	2.37:g.232104723C>T	ENSP00000258417:p.Ala283Val					ARMC9_ENST00000483477.1_3'UTR	p.A283V	NM_001271466.1|NM_025139.3	NP_001258395.1|NP_079415.3	Q7Z3E5	ARMC9_HUMAN		Epithelial(121;1.43e-10)|LUSC - Lung squamous cell carcinoma(224;0.017)|Lung(119;0.0189)	9	1042	+		Renal(207;0.0112)|all_lung(227;0.0744)|all_hematologic(139;0.0749)|Acute lymphoblastic leukemia(138;0.167)|Medulloblastoma(418;0.184)|Lung NSC(271;0.205)	283					Q53TI3|Q6P162|Q7L594|Q86WG2|Q96JF9|Q9H9R8	Missense_Mutation	SNP	ENST00000349938.4	37	c.848C>T	CCDS2484.1	.	.	.	.	.	.	.	.	.	.	C	18.83	3.707894	0.68615	.	.	ENSG00000135931	ENST00000349938;ENST00000359743;ENST00000444285	T	0.18810	2.19	5.03	5.03	0.67393	.	0.064498	0.64402	D	0.000012	T	0.18299	0.0439	L	0.47716	1.5	0.48901	D	0.999721	B	0.33583	0.418	B	0.19666	0.026	T	0.03503	-1.1030	10	0.27785	T	0.31	-3.5845	16.518	0.84306	0.0:1.0:0.0:0.0	.	283	Q7Z3E5	ARMC9_HUMAN	V	283;283;37	ENSP00000258417:A283V	ENSP00000258417:A283V	A	+	2	0	ARMC9	231812967	0.979000	0.34478	0.965000	0.40720	0.968000	0.65278	2.326000	0.43849	2.309000	0.77851	0.561000	0.74099	GCG		0.552	ARMC9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256966.3	NM_025139		8	12	0	0	0	1	0	8	12					T	232104723	C	T	232104723	3	4	398	1	0	0	0	0	1	0	0	0	958	768	27	1	878	1	ARMC9	2	232104723	Missense_Mutation	SNP	C	TCGA-V1-A9ZR-01A-11D-A41K-08	187504830	232104723	11094650	6	19432											
SETD2	29072	broad.mit.edu	37	chr3	47144908	47144908	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tttcctttttgagtggcatcTattatctgggagaagaggat	9	16	11	5	0	2	3	0	1	2	2	3	5	3	4	1	3	0	1	1	3	3	5			TCGA-V1-A9ZR-01A-11D-A41K-08	TCGA-V1-A9ZR-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1161c64b-4a41-4fce-a9d4-73d4f091c044	a78aaabf-765f-422c-80b1-597ef3a0c26d	g.chr3:47144908T>C	ENST00000409792.3	-	7	4887	c.4845A>G	c.(4843-4845)atA>atG	p.I1615M		NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2	1615	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				angiogenesis (GO:0001525)|cell migration involved in vasculogenesis (GO:0035441)|coronary vasculature morphogenesis (GO:0060977)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic placenta morphogenesis (GO:0060669)|forebrain development (GO:0030900)|histone H3-K36 trimethylation (GO:0097198)|mesoderm morphogenesis (GO:0048332)|mismatch repair (GO:0006298)|morphogenesis of a branching structure (GO:0001763)|neural tube closure (GO:0001843)|nucleosome organization (GO:0034728)|pericardium development (GO:0060039)|regulation of mRNA export from nucleus (GO:0010793)|regulation of transcription, DNA-templated (GO:0006355)|stem cell development (GO:0048864)|transcription elongation from RNA polymerase II promoter (GO:0006368)	chromosome (GO:0005694)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)			breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		GAGTGGCATCTATTATCTGGG	0.328			"N, F, S, Mis"		clear cell renal carcinoma																																	ENST00000409792.3				Rec	yes		3	3p21.31	29072	"N, F, S, Mis"	SET domain containing 2			E			clear cell renal carcinoma		0				breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141						c.(4843-4845)atA>atG		SET domain containing 2							135	128	131					3																	47144908		2203	4300	6503	SO:0001583	missense	29072				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding	g.chr3:47144908T>C	AJ238403	CCDS2749.2	3p21.31	2014-09-17			ENSG00000181555	ENSG00000181555		"Chromatin-modifying enzymes / K-methyltransferases"	18420	protein-coding gene	gene with protein product		612778				16118227, 11461154	Standard	NM_014159		Approved	HYPB, HIF-1, KIAA1732, FLJ23184, KMT3A	uc003cqs.3	Q9BYW2	OTTHUMG00000133514	ENST00000409792.3:c.4845A>G	3.37:g.47144908T>C	ENSP00000386759:p.Ile1615Met						p.I1615M	NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)	7	4887	-		Acute lymphoblastic leukemia(5;0.0169)	1615			SET.		O75397|O75405|Q17RW8|Q5BKS9|Q5QGN2|Q69YI5|Q6IN64|Q6ZN53|Q6ZS25|Q8N3R0|Q8TCN0|Q9C0D1|Q9H696|Q9NZW9	Missense_Mutation	SNP	ENST00000409792.3	37	c.4845A>G	CCDS2749.2	.	.	.	.	.	.	.	.	.	.	T	16.95	3.263975	0.59431	.	.	ENSG00000181555	ENST00000451092;ENST00000543224;ENST00000409792	D	0.84370	-1.84	5.83	3.24	0.37175	SET domain (3);	0.000000	0.64402	D	0.000010	D	0.92632	0.7659	M	0.93016	3.37	0.58432	D	0.999999	D;D	0.89917	0.999;1.0	D;D	0.91635	0.997;0.999	D	0.91947	0.5568	10	0.87932	D	0	.	7.6746	0.28478	0.1281:0.0:0.2582:0.6137	.	1615;1615	F2Z317;Q9BYW2	.;SETD2_HUMAN	M	1615	ENSP00000386759:I1615M	ENSP00000386759:I1615M	I	-	3	3	SETD2	47119912	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	0.825000	0.27393	0.989000	0.38761	0.528000	0.53228	ATA		0.328	SETD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257479.2	NM_014159		3	95	0	0	0	1	0	3	95					C	47144908	T	C	47144908	3	2	398	1	0	0	0	0	1	0	0	0	14131	1512	53	4	2909	4	SETD2	3	47144908	Missense_Mutation	SNP	T	TCGA-V1-A9ZR-01A-11D-A41K-08		47144908	150877522	7	19433											
GUF1	60558	broad.mit.edu	37	chr4	44691372	44691372	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaaaaactgactttaaatgAttccagtgtgaccgttcatc	14	12	7	8	1	1	4	1	3	0	1	3	4	2	4	2	0	1	1	2	0	4	4			TCGA-V1-A9ZR-01A-11D-A41K-08	TCGA-V1-A9ZR-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1161c64b-4a41-4fce-a9d4-73d4f091c044	a78aaabf-765f-422c-80b1-597ef3a0c26d	g.chr4:44691372A>C	ENST00000281543.5	+	10	1342	c.1148A>C	c.(1147-1149)gAt>gCt	p.D383A	GUF1_ENST00000506793.1_3'UTR	NM_021927.2	NP_068746.2			GUF1 GTPase homolog (S. cerevisiae)											breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	19						ACTTTAAATGATTCCAGTGTG	0.398																																						ENST00000281543.5																			0				breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	19						c.(1147-1149)gAt>gCt		GUF1 GTPase homolog (S. cerevisiae)							139	142	141					4																	44691372		2203	4300	6503	SO:0001583	missense	60558				translation	mitochondrial inner membrane	GTP binding|GTPase activity	g.chr4:44691372A>C		CCDS3468.1	4p13	2006-02-16			ENSG00000151806	ENSG00000151806			25799	protein-coding gene	gene with protein product						8553703	Standard	NM_021927		Approved	FLJ13220	uc003gww.4	Q8N442	OTTHUMG00000128608	ENST00000281543.5:c.1148A>C	4.37:g.44691372A>C	ENSP00000281543:p.Asp383Ala					GUF1_ENST00000506793.1_3'UTR	p.D383A	NM_021927.2	NP_068746.2	Q8N442	GUF1_HUMAN			10	1342	+			383						Missense_Mutation	SNP	ENST00000281543.5	37	c.1148A>C	CCDS3468.1	.	.	.	.	.	.	.	.	.	.	A	25.9	4.682340	0.88542	.	.	ENSG00000151806	ENST00000281543	D	0.84070	-1.8	5.72	5.72	0.89469	Elongation factor G/III/V (1);	0.047895	0.85682	D	0.000000	D	0.93943	0.8061	H	0.96111	3.77	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.95655	0.8710	10	0.87932	D	0	-6.6814	15.1896	0.73032	1.0:0.0:0.0:0.0	.	383	Q8N442	GUF1_HUMAN	A	383	ENSP00000281543:D383A	ENSP00000281543:D383A	D	+	2	0	GUF1	44386129	1.000000	0.71417	1.000000	0.80357	0.847000	0.48162	8.948000	0.93006	2.172000	0.68678	0.528000	0.53228	GAT		0.398	GUF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250469.3	NM_021927		11	46	0	0	0	1	0	11	46					C	44691372	A	C	44691372	3	2	398	1	0	0	0	0	1	0	0	0	6899	333	12	5	1186	5	GUF1	4	44691372	Missense_Mutation	SNP	A	TCGA-V1-A9ZR-01A-11D-A41K-08		44691372	146462904	8	19434											
UGT2A3	79799	broad.mit.edu	37	chr4	69798438	69798438	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccccagagaaaacaccacaaTaccatcttcccctgaactct	14	7	3	17	0	2	2	0	1	2	1	3	3	3	2	6	0	3	0	6	0	5	2			TCGA-V1-A9ZR-01A-11D-A41K-08	TCGA-V1-A9ZR-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1161c64b-4a41-4fce-a9d4-73d4f091c044	a78aaabf-765f-422c-80b1-597ef3a0c26d	g.chr4:69798438T>A	ENST00000251566.4	-	3	934	c.904A>T	c.(904-906)Att>Ttt	p.I302F	UGT2A3_ENST00000420231.2_Missense_Mutation_p.I13F	NM_024743.3	NP_079019.3	Q6UWM9	UD2A3_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide A3	302					cellular glucuronidation (GO:0052695)	integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)			NS(1)|breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						AACACCACAATACCATCTTCC	0.363																																						ENST00000251566.4																			0				NS(1)|breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						c.(904-906)Att>Ttt		UDP glucuronosyltransferase 2 family, polypeptide A3							137	137	137					4																	69798438		2203	4300	6503	SO:0001583	missense	79799					integral to membrane	glucuronosyltransferase activity	g.chr4:69798438T>A		CCDS3525.1	4q13.2	2010-12-14			ENSG00000135220	ENSG00000135220		"UDP glucuronosyltransferases"	28528	protein-coding gene	gene with protein product							Standard	NM_024743		Approved	FLJ21934	uc003hef.2	Q6UWM9	OTTHUMG00000129408	ENST00000251566.4:c.904A>T	4.37:g.69798438T>A	ENSP00000251566:p.Ile302Phe					UGT2A3_ENST00000420231.2_Missense_Mutation_p.I13F	p.I302F	NM_024743.3	NP_079019.3	Q6UWM9	UD2A3_HUMAN			3	934	-			302					Q9H6S4	Missense_Mutation	SNP	ENST00000251566.4	37	c.904A>T	CCDS3525.1	.	.	.	.	.	.	.	.	.	.	T	9.566	1.119751	0.20877	.	.	ENSG00000135220	ENST00000251566;ENST00000420231	T;T	0.65549	-0.16;-0.16	2.08	-3.03	0.05429	.	0.128596	0.50627	D	0.000103	T	0.60170	0.2248	L	0.41124	1.26	0.24658	N	0.993485	D	0.60575	0.988	D	0.63703	0.917	T	0.56498	-0.7969	10	0.40728	T	0.16	.	6.5087	0.22210	0.0:0.4294:0.0:0.5706	.	302	Q6UWM9	UD2A3_HUMAN	F	302;13	ENSP00000251566:I302F;ENSP00000440115:I13F	ENSP00000251566:I302F	I	-	1	0	UGT2A3	69833027	0.003000	0.15002	0.024000	0.17045	0.272000	0.26649	-0.698000	0.05092	-0.852000	0.04141	-0.441000	0.05720	ATT		0.363	UGT2A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251564.1	NM_024743		44	122	0	0	0	1	0	44	122					A	69798438	T	A	69798438	3	1	398	1	0	0	0	0	1	0	0	0	16952	1406	49	5	695	5	UGT2A3	4	69798438	Missense_Mutation	SNP	T	TCGA-V1-A9ZR-01A-11D-A41K-08	25107066	69798438	121355838	9	19435											
DAPP1	27071	broad.mit.edu	37	chr4	100756895	100756895	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaccgggctgtactctctcTctgtgaggtaaggtgcttca	6	12	11	12	1	3	1	1	1	2	0	5	1	3	1	2	3	2	4	2	3	2	3			TCGA-V1-A9ZR-01A-11D-A41K-08	TCGA-V1-A9ZR-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1161c64b-4a41-4fce-a9d4-73d4f091c044	a78aaabf-765f-422c-80b1-597ef3a0c26d	g.chr4:100756895T>A	ENST00000512369.1	+	2	285	c.217T>A	c.(217-219)Tct>Act	p.S73T	DAPP1_ENST00000296414.7_Missense_Mutation_p.S73T	NM_014395.2	NP_055210.2	Q9UN19	DAPP1_HUMAN	dual adaptor of phosphotyrosine and 3-phosphoinositides	73	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phospholipid binding (GO:0005543)			endometrium(1)|kidney(1)|lung(4)	6				OV - Ovarian serous cystadenocarcinoma(123;7.04e-09)		GTACTCTCTCTCTGTGAGGTA	0.517																																						ENST00000296414.7																			0				endometrium(1)|kidney(1)|lung(4)	6						c.(217-219)Tct>Act		dual adaptor of phosphotyrosine and 3-phosphoinositides							88	87	88					4																	100756895		2013	4170	6183	SO:0001583	missense	27071				signal transduction	cytoplasm|plasma membrane	phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|protein tyrosine phosphatase activity	g.chr4:100756895T>A	AF186022	CCDS47112.1	4q25-q27	2013-02-14			ENSG00000070190	ENSG00000070190		"Pleckstrin homology (PH) domain containing", "SH2 domain containing"	16500	protein-coding gene	gene with protein product		605768				10432293	Standard	NM_014395		Approved	BAM32	uc003hvf.4	Q9UN19	OTTHUMG00000160974	ENST00000512369.1:c.217T>A	4.37:g.100756895T>A	ENSP00000423602:p.Ser73Thr					DAPP1_ENST00000512369.1_Missense_Mutation_p.S73T	p.S73T			Q9UN19	DAPP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;7.04e-09)	2	298	+			73			SH2.		Q8TCK5|Q9UHF2	Missense_Mutation	SNP	ENST00000512369.1	37	c.217T>A	CCDS47112.1	.	.	.	.	.	.	.	.	.	.	T	20.8	4.045278	0.75846	.	.	ENSG00000070190	ENST00000296414;ENST00000512369	D;D	0.92299	-3.01;-3.01	5.9	5.9	0.94986	SH2 motif (5);	0.054300	0.85682	D	0.000000	D	0.95481	0.8532	M	0.69358	2.11	0.58432	D	0.999999	D;D;D	0.89917	1.0;0.997;1.0	D;D;D	0.83275	0.996;0.942;0.987	D	0.95846	0.8870	10	0.87932	D	0	-14.1746	16.0056	0.80359	0.0:0.0:0.0:1.0	.	73;73;73	B4DW38;Q9UN19-2;Q9UN19	.;.;DAPP1_HUMAN	T	73	ENSP00000296414:S73T;ENSP00000423602:S73T	ENSP00000296414:S73T	S	+	1	0	DAPP1	100975918	1.000000	0.71417	0.936000	0.37596	0.425000	0.31504	7.175000	0.77632	2.251000	0.74343	0.528000	0.53228	TCT		0.517	DAPP1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000363215.1			5	50	0	0	0	1	0	5	50					A	100756895	T	A	100756895	3	1	398	1	0	0	0	0	1	0	0	0	4239	1551	54	5	223	5	DAPP1	4	100756895	Missense_Mutation	SNP	T	TCGA-V1-A9ZR-01A-11D-A41K-08	30958457	100756895	90397381	10	19436											
RGNEF	64283	broad.mit.edu	37	chr5	73183506	73183506	+	Splice_Site	DEL	T	T	-																															atacatctttgcagccgttgTaagtatatgactgtgtgatg																										TCGA-V1-A9ZR-01A-11D-A41K-08	TCGA-V1-A9ZR-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1161c64b-4a41-4fce-a9d4-73d4f091c044	a78aaabf-765f-422c-80b1-597ef3a0c26d	g.chr5:73183506delT	ENST00000426542.2	+	25	3407		c.e25+2		ARHGEF28_ENST00000513042.2_Splice_Site|ARHGEF28_ENST00000545377.1_Splice_Site|ARHGEF28_ENST00000512883.1_Splice_Site|ARHGEF28_ENST00000437974.1_Splice_Site|ARHGEF28_ENST00000296799.4_Splice_Site|ARHGEF28_ENST00000287898.5_Splice_Site|ARHGEF28_ENST00000296794.6_Splice_Site			Q8N1W1	ARG28_HUMAN	Rho guanine nucleotide exchange factor (GEF) 28						central nervous system neuron axonogenesis (GO:0021955)|intracellular signal transduction (GO:0035556)|neurofilament cytoskeleton organization (GO:0060052)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|RNA binding (GO:0003723)										GCAGCCGTTGTAAGTATATGA	0.308																																						ENST00000545377.1																			0											c.e26+2		Rho guanine nucleotide exchange factor (GEF) 28							70	62	65					5																	73183506		1806	4071	5877	SO:0001630	splice_region_variant	64283							g.chr5:73183506delT		CCDS47231.1, CCDS47231.2, CCDS54870.1, CCDS58957.1	5q13.2	2012-08-08			ENSG00000214944	ENSG00000214944			30322	protein-coding gene	gene with protein product		612790				9199174, 11058585	Standard	NM_001177693		Approved	RGNEF, p190RhoGEF, RIP2	uc010izf.3	Q8N1W1	OTTHUMG00000162454	ENST00000426542.2:c.3387+2T>-	5.37:g.73183506delT						ARHGEF28_ENST00000296799.4_Splice_Site|ARHGEF28_ENST00000426542.2_Splice_Site|ARHGEF28_ENST00000513042.2_Splice_Site|ARHGEF28_ENST00000287898.5_Splice_Site|ARHGEF28_ENST00000296794.6_Splice_Site|ARHGEF28_ENST00000437974.1_Splice_Site|ARHGEF28_ENST00000512883.1_Splice_Site		NM_001080479.2	NP_001073948.2					26	3563	+								B2RXG7|B4E3K4|B5MDA3|B7ZW32|E9PC75|Q8NCM7|Q96E37|Q9H6L3|Q9H6W0	Splice_Site	DEL	ENST00000426542.2	37		CCDS54870.1																																																																																				0.308	ARHGEF28-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000368975.1		Intron	2	4						2	4	---	---	---	---	-	73183506	T	-	73183506	8	5	398	1	0	1	0	1	0	0	1	0	13283	1652	57	0	3487	0	RGNEF	5	73183506	Splice_Site	DEL	T	TCGA-V1-A9ZR-01A-11D-A41K-08		73183506	107731754	11	19437											
CHSY3	337876	broad.mit.edu	37	chr5	129520132	129520132	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggaaagtgccctgatgagcAagctcagtaacacagaagtg	14	6	13	8	0	1	3	1	2	0	1	1	4	1	4	1	1	4	3	1	1	4	1			TCGA-V1-A9ZR-01A-11D-A41K-08	TCGA-V1-A9ZR-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1161c64b-4a41-4fce-a9d4-73d4f091c044	a78aaabf-765f-422c-80b1-597ef3a0c26d	g.chr5:129520132A>C	ENST00000305031.4	+	3	1655	c.1297A>C	c.(1297-1299)Aag>Cag	p.K433Q	CHSY3_ENST00000507545.1_3'UTR	NM_175856.4	NP_787052.3	Q70JA7	CHSS3_HUMAN	chondroitin sulfate synthase 3	433					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi cisterna membrane (GO:0032580)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity (GO:0047238)|metal ion binding (GO:0046872)|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity (GO:0050510)			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|urinary_tract(1)	28		all_cancers(142;0.0227)|Breast(839;0.198)|Prostate(80;0.215)|Lung NSC(810;0.239)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.136)		CCTGATGAGCAAGCTCAGTAA	0.488																																						ENST00000305031.4																			0				central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|urinary_tract(1)	28						c.(1297-1299)Aag>Cag		chondroitin sulfate synthase 3							73	67	69					5																	129520132		2203	4300	6503	SO:0001583	missense	337876					Golgi cisterna membrane|integral to membrane	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity	g.chr5:129520132A>C	AB086062	CCDS34223.1	5q13	2013-02-19			ENSG00000198108	ENSG00000198108	2.4.1.175, 2.4.1.226	"Beta 3-glycosyltransferases", "Beta 4-glycosyltransferases"	24293	protein-coding gene	gene with protein product		609963				12907687	Standard	XM_005271982		Approved	CSS3, CHSY-2	uc003kvd.3	Q70JA7	OTTHUMG00000163043	ENST00000305031.4:c.1297A>C	5.37:g.129520132A>C	ENSP00000302629:p.Lys433Gln					CHSY3_ENST00000507545.1_3'UTR	p.K433Q	NM_175856.4	NP_787052.3	Q70JA7	CHSS3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.136)	3	1655	+		all_cancers(142;0.0227)|Breast(839;0.198)|Prostate(80;0.215)|Lung NSC(810;0.239)	433					B2RP97|Q76L22|Q86Y52	Missense_Mutation	SNP	ENST00000305031.4	37	c.1297A>C	CCDS34223.1	.	.	.	.	.	.	.	.	.	.	A	14.01	2.408939	0.42715	.	.	ENSG00000198108	ENST00000305031	T	0.16457	2.34	4.5	4.5	0.54988	.	0.000000	0.64402	D	0.000011	T	0.13415	0.0325	N	0.19112	0.55	0.42876	D	0.99415	B	0.26708	0.157	B	0.33568	0.166	T	0.15838	-1.0423	9	.	.	.	-2.7427	14.8652	0.70409	1.0:0.0:0.0:0.0	.	433	Q70JA7	CHSS3_HUMAN	Q	433	ENSP00000302629:K433Q	.	K	+	1	0	CHSY3	129548031	1.000000	0.71417	1.000000	0.80357	0.915000	0.54546	4.289000	0.59013	2.243000	0.73865	0.528000	0.53228	AAG		0.488	CHSY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371453.1	NM_175856		7	53	0	0	0	1	0	7	53					C	129520132	A	C	129520132	3	2	398	1	0	0	0	0	1	0	0	0	3413	131	5	5	1307	5	CHSY3	5	129520132	Missense_Mutation	SNP	A	TCGA-V1-A9ZR-01A-11D-A41K-08	56336626	129520132	51395128	12	19438											
C6orf89	221477	broad.mit.edu	37	chr6	36887390	36887390	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acctatttatcattggcagcGgtgaggccatgttgcagctc	8	12	11	10	1	1	1	1	1	0	0	2	1	1	1	2	3	3	4	2	3	2	5			TCGA-V1-A9ZR-01A-11D-A41K-08	TCGA-V1-A9ZR-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1161c64b-4a41-4fce-a9d4-73d4f091c044	a78aaabf-765f-422c-80b1-597ef3a0c26d	g.chr6:36887390G>A	ENST00000480824.2	+	8	1156	c.862G>A	c.(862-864)Ggt>Agt	p.G288S	C6orf89_ENST00000510325.2_Missense_Mutation_p.G182S|C6orf89_ENST00000355190.3_Missense_Mutation_p.G295S|C6orf89_ENST00000373685.1_Missense_Mutation_p.G288S|C6orf89_ENST00000359359.2_Missense_Mutation_p.G182S			Q6UWU4	CF089_HUMAN	chromosome 6 open reading frame 89	288					epithelial cell proliferation (GO:0050673)|positive regulation of cell cycle (GO:0045787)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|skin(2)	15						CATTGGCAGCGGTGAGGCCAT	0.512																																						ENST00000480824.2																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|skin(2)	15						c.(862-864)Ggt>Agt		chromosome 6 open reading frame 89							125	111	116					6																	36887390		2203	4300	6503	SO:0001583	missense	221477					integral to membrane		g.chr6:36887390G>A	AK058086	CCDS4827.1, CCDS69100.1, CCDS75444.1	6p21.31	2013-03-14			ENSG00000198663	ENSG00000198663			21114	protein-coding gene	gene with protein product	"bombesin receptor activated protein"					21857995, 23460338	Standard	NM_152734		Approved	FLJ25357, BRAP	uc003omw.3	Q6UWU4	OTTHUMG00000014613	ENST00000480824.2:c.862G>A	6.37:g.36887390G>A	ENSP00000475947:p.Gly288Ser					C6orf89_ENST00000510325.2_Missense_Mutation_p.G182S|C6orf89_ENST00000373685.1_Missense_Mutation_p.G288S|C6orf89_ENST00000355190.3_Missense_Mutation_p.G295S|C6orf89_ENST00000359359.2_Missense_Mutation_p.G182S	p.G288S			Q6UWU4	CF089_HUMAN			8	1156	+			288					B4DTT1|F4NAR0|F4NAR1|Q6ZMG5|Q7Z356|Q8IZ35	Missense_Mutation	SNP	ENST00000480824.2	37	c.862G>A		.	.	.	.	.	.	.	.	.	.	G	21.9	4.209424	0.79240	.	.	ENSG00000198663	ENST00000359359;ENST00000510325;ENST00000355190;ENST00000373685	.	.	.	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.74230	0.3689	M	0.66939	2.045	0.52099	D	0.999948	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.75297	-0.3367	9	0.87932	D	0	-0.1201	16.3795	0.83443	0.0:0.0:1.0:0.0	.	288;295	Q6UWU4;Q6UWU4-2	CF089_HUMAN;.	S	182;182;295;288	.	ENSP00000347322:G295S	G	+	1	0	C6orf89	36995368	0.991000	0.36638	0.833000	0.33012	0.426000	0.31534	4.411000	0.59781	2.941000	0.99782	0.655000	0.94253	GGT		0.512	C6orf89-004	KNOWN	alternative_5_UTR|basic	protein_coding	protein_coding	OTTHUMT00000040387.2	NM_152734		35	67	0	0	0	1	0	35	67					A	36887390	G	A	36887390	3	1	398	1	0	0	0	0	1	0	0	0	2373	1116	39	2	909	2	C6orf89	6	36887390	Missense_Mutation	SNP	G	TCGA-V1-A9ZR-01A-11D-A41K-08		36887390	134227677	13	19439											
DOPEY1	23033	broad.mit.edu	37	chr6	83838979	83838979	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctacatcattcagaataactCtttttctcagtctttggcta	10	17	4	10	0	5	1	3	0	3	1	6	1	5	1	0	1	2	1	0	1	4	7			TCGA-V1-A9ZR-01A-11D-A41K-08	TCGA-V1-A9ZR-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1161c64b-4a41-4fce-a9d4-73d4f091c044	a78aaabf-765f-422c-80b1-597ef3a0c26d	g.chr6:83838979C>T	ENST00000349129.2	+	16	2353	c.2093C>T	c.(2092-2094)tCt>tTt	p.S698F	DOPEY1_ENST00000237163.5_Missense_Mutation_p.S679F|DOPEY1_ENST00000369739.3_Missense_Mutation_p.S689F	NM_015018.3	NP_055833.2	Q5JWR5	DOP1_HUMAN	dopey family member 1	698					protein transport (GO:0015031)					breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	67		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)		BRCA - Breast invasive adenocarcinoma(397;0.053)		CAGAATAACTCTTTTTCTCAG	0.418																																						ENST00000349129.2																			0				breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	67						c.(2092-2094)tCt>tTt		dopey family member 1							103	104	104					6																	83838979		2203	4300	6503	SO:0001583	missense	23033				protein transport			g.chr6:83838979C>T	AK027030	CCDS4996.1, CCDS64467.1	6q15	2013-03-05	2006-02-02	2006-02-02	ENSG00000083097	ENSG00000083097			21194	protein-coding gene	gene with protein product			"KIAA1117"	KIAA1117		16301316, 16303751, 10931277	Standard	NM_015018		Approved	dJ202D23.2	uc011dyy.2	Q5JWR5	OTTHUMG00000016365	ENST00000349129.2:c.2093C>T	6.37:g.83838979C>T	ENSP00000195654:p.Ser698Phe					DOPEY1_ENST00000237163.5_Missense_Mutation_p.S679F|DOPEY1_ENST00000369739.3_Missense_Mutation_p.S689F	p.S698F	NM_015018.3	NP_055833.2	Q5JWR5	DOP1_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.053)	16	2353	+		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)	698					Q86XV1|Q9H5J5|Q9NSL4|Q9UPN5|Q9Y414	Missense_Mutation	SNP	ENST00000349129.2	37	c.2093C>T	CCDS4996.1	.	.	.	.	.	.	.	.	.	.	C	5.696	0.313011	0.10789	.	.	ENSG00000083097	ENST00000349129;ENST00000237163;ENST00000369739	T;T	0.24538	1.85;1.85	5.48	3.65	0.41850	.	0.323894	0.26769	N	0.022595	T	0.10981	0.0268	L	0.51422	1.61	0.37683	D	0.923563	B;P;P	0.39665	0.242;0.682;0.682	B;B;B	0.32090	0.094;0.14;0.14	T	0.03335	-1.1047	10	0.66056	D	0.02	.	12.3543	0.55165	0.1345:0.7364:0.1291:0.0	.	589;689;698	E1P545;B2RWN9;Q5JWR5	.;.;DOP1_HUMAN	F	698;679;679	ENSP00000195654:S698F;ENSP00000237163:S679F	ENSP00000237163:S679F	S	+	2	0	DOPEY1	83895698	0.223000	0.23663	0.001000	0.08648	0.000000	0.00434	1.048000	0.30379	0.634000	0.30469	-0.176000	0.13171	TCT		0.418	DOPEY1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043785.2	NM_015018		25	52	0	0	0	1	0	25	52					T	83838979	C	T	83838979	3	4	398	1	0	0	0	0	1	0	0	0	4707	913	32	3	2147	3	DOPEY1	6	83838979	Missense_Mutation	SNP	C	TCGA-V1-A9ZR-01A-11D-A41K-08	46951589	83838979	87276088	14	19440											
DOPEY1	23033	broad.mit.edu	37	chr6	83855351	83855351	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctgtaaaagaagttttaaagCagccaccagccatagccaag	16	7	8	10	0	0	1	0	0	0	1	0	1	0	1	4	0	4	3	4	0	7	4			TCGA-V1-A9ZR-01A-11D-A41K-08	TCGA-V1-A9ZR-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1161c64b-4a41-4fce-a9d4-73d4f091c044	a78aaabf-765f-422c-80b1-597ef3a0c26d	g.chr6:83855351C>T	ENST00000349129.2	+	25	5910	c.5650C>T	c.(5650-5652)Cag>Tag	p.Q1884*	DOPEY1_ENST00000237163.5_Nonsense_Mutation_p.Q1865*|DOPEY1_ENST00000369739.3_Nonsense_Mutation_p.Q1875*|DOPEY1_ENST00000484282.1_3'UTR	NM_015018.3	NP_055833.2	Q5JWR5	DOP1_HUMAN	dopey family member 1	1884					protein transport (GO:0015031)					breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	67		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)		BRCA - Breast invasive adenocarcinoma(397;0.053)		AGTTTTAAAGCAGCCACCAGC	0.368																																						ENST00000349129.2																			0				breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	67						c.(5650-5652)Cag>Tag		dopey family member 1							69	64	66					6																	83855351		2203	4300	6503	SO:0001587	stop_gained	23033				protein transport			g.chr6:83855351C>T	AK027030	CCDS4996.1, CCDS64467.1	6q15	2013-03-05	2006-02-02	2006-02-02	ENSG00000083097	ENSG00000083097			21194	protein-coding gene	gene with protein product			"KIAA1117"	KIAA1117		16301316, 16303751, 10931277	Standard	NM_015018		Approved	dJ202D23.2	uc011dyy.2	Q5JWR5	OTTHUMG00000016365	ENST00000349129.2:c.5650C>T	6.37:g.83855351C>T	ENSP00000195654:p.Gln1884*					DOPEY1_ENST00000237163.5_Nonsense_Mutation_p.Q1865*|DOPEY1_ENST00000484282.1_3'UTR|DOPEY1_ENST00000369739.3_Nonsense_Mutation_p.Q1875*	p.Q1884*	NM_015018.3	NP_055833.2	Q5JWR5	DOP1_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.053)	25	5910	+		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)	1884					Q86XV1|Q9H5J5|Q9NSL4|Q9UPN5|Q9Y414	Nonsense_Mutation	SNP	ENST00000349129.2	37	c.5650C>T	CCDS4996.1	.	.	.	.	.	.	.	.	.	.	C	48	14.315009	0.99789	.	.	ENSG00000083097	ENST00000349129;ENST00000237163;ENST00000369739	.	.	.	6.05	6.05	0.98169	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.14656	T	0.56	.	20.599	0.99451	0.0:1.0:0.0:0.0	.	.	.	.	X	1884;1865;1865	.	ENSP00000237163:Q1865X	Q	+	1	0	DOPEY1	83912070	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	7.463000	0.80869	2.871000	0.98454	0.637000	0.83480	CAG		0.368	DOPEY1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043785.2	NM_015018		8	28	0	0	0	1	0	8	28					T	83855351	C	T	83855351	4	4	398	1	0	0	0	0	0	1	0	0	4707	711	25	3	5740	3	DOPEY1	6	83855351	Nonsense_Mutation	SNP	C	TCGA-V1-A9ZR-01A-11D-A41K-08	16372	83855351	87259716	15	19441											
TIAM2	26230	broad.mit.edu	37	chr6	155451501	155451501	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctcaaagccaggatgcgaCggatcagtgactggacggga	11	5	14	11	3	2	1	2	1	0	0	2	6	2	5	2	4	2	0	2	4	1	0			TCGA-V1-A9ZR-01A-11D-A41K-08	TCGA-V1-A9ZR-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1161c64b-4a41-4fce-a9d4-73d4f091c044	a78aaabf-765f-422c-80b1-597ef3a0c26d	g.chr6:155451501C>T	ENST00000461783.3	+	6	2417	c.1144C>T	c.(1144-1146)Cgg>Tgg	p.R382W	TIAM2_ENST00000529824.2_Missense_Mutation_p.R382W|TIAM2_ENST00000456144.1_Missense_Mutation_p.R382W|TIAM2_ENST00000367174.2_5'UTR|TIAM2_ENST00000360366.4_Missense_Mutation_p.R382W|TIAM2_ENST00000318981.5_Missense_Mutation_p.R382W			Q8IVF5	TIAM2_HUMAN	T-cell lymphoma invasion and metastasis 2	382					apoptotic signaling pathway (GO:0097190)|cellular lipid metabolic process (GO:0044255)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	cell projection (GO:0042995)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)|receptor signaling protein activity (GO:0005057)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)		CAGGATGCGACGGATCAGTGA	0.552																																						ENST00000461783.3																			0				breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65						c.(1144-1146)Cgg>Tgg		T-cell lymphoma invasion and metastasis 2							61	61	61					6																	155451501		2203	4300	6503	SO:0001583	missense	26230				apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|filopodium|growth cone|lamellipodium	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity	g.chr6:155451501C>T		CCDS34558.1, CCDS34559.1	6q25	2013-01-10			ENSG00000146426	ENSG00000146426		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	11806	protein-coding gene	gene with protein product		604709				10512681	Standard	NM_012454		Approved	STEF	uc003qqe.3	Q8IVF5	OTTHUMG00000015880	ENST00000461783.3:c.1144C>T	6.37:g.155451501C>T	ENSP00000437188:p.Arg382Trp					TIAM2_ENST00000456144.1_Missense_Mutation_p.R382W|TIAM2_ENST00000360366.4_Missense_Mutation_p.R382W|TIAM2_ENST00000529824.2_Missense_Mutation_p.R382W|TIAM2_ENST00000318981.5_Missense_Mutation_p.R382W|TIAM2_ENST00000367174.2_5'UTR	p.R382W			Q8IVF5	TIAM2_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)	6	2417	+		Ovarian(120;0.196)	382					B2RP56|C9JZV2|Q6NXN9|Q6ZUP9|Q9UFG6|Q9UKV9|Q9UKW0	Missense_Mutation	SNP	ENST00000461783.3	37	c.1144C>T	CCDS34558.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.148060	0.78001	.	.	ENSG00000146426	ENST00000461783;ENST00000528928;ENST00000528535;ENST00000456144;ENST00000318981;ENST00000360366;ENST00000529824	T;T;T;T;T;T	0.07216	3.32;3.21;3.28;3.32;3.32;3.28	5.29	3.44	0.39384	.	0.000000	0.85682	D	0.000000	T	0.17365	0.0417	M	0.72118	2.19	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.01273	-1.1399	10	0.87932	D	0	.	13.032	0.58847	0.2914:0.7086:0.0:0.0	.	382	Q8IVF5	TIAM2_HUMAN	W	382;628;382;382;382;382;382	ENSP00000437188:R382W;ENSP00000434901:R382W;ENSP00000407746:R382W;ENSP00000327315:R382W;ENSP00000353528:R382W;ENSP00000433348:R382W	ENSP00000327315:R382W	R	+	1	2	TIAM2	155493193	1.000000	0.71417	0.728000	0.30774	0.980000	0.70556	4.329000	0.59260	1.241000	0.43820	-0.152000	0.13540	CGG		0.552	TIAM2-005	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000387980.2	NM_012454		6	47	0	0	0	1	0	6	47					T	155451501	C	T	155451501	3	4	398	1	0	0	0	0	1	0	0	0	15888	527	19	1	1146	1	TIAM2	6	155451501	Missense_Mutation	SNP	C	TCGA-V1-A9ZR-01A-11D-A41K-08	71596150	155451501	15663566	16	19442											
IKZF1	10320	broad.mit.edu	37	chr7	50444412	50444412	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggaggcattcgacttcctaaCggaaaactaaagtgtgatat	14	10	10	7	2	0	1	0	1	0	0	2	4	1	3	1	3	2	1	1	3	6	5	rs185632810		TCGA-V1-A9ZR-01A-11D-A41K-08	TCGA-V1-A9ZR-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1161c64b-4a41-4fce-a9d4-73d4f091c044	a78aaabf-765f-422c-80b1-597ef3a0c26d	g.chr7:50444412C>T	ENST00000331340.3	+	4	497	c.342C>T	c.(340-342)aaC>aaT	p.N114N	IKZF1_ENST00000439701.1_Silent_p.N114N|IKZF1_ENST00000438033.1_Intron|IKZF1_ENST00000349824.4_Silent_p.N114N|IKZF1_ENST00000346667.4_Intron|IKZF1_ENST00000440768.2_Silent_p.N114N|IKZF1_ENST00000343574.5_Intron|IKZF1_ENST00000359197.5_Silent_p.N114N|IKZF1_ENST00000357364.4_Silent_p.N114N	NM_001220769.1|NM_001220772.1|NM_001220773.1|NM_001220775.1|NM_006060.4	NP_001207698.1|NP_001207701.1|NP_001207702.1|NP_001207704.1|NP_006051.1	Q13422	IKZF1_HUMAN	IKAROS family zinc finger 1 (Ikaros)	114					B cell differentiation (GO:0030183)|cell cycle (GO:0007049)|chromatin modification (GO:0016568)|forebrain development (GO:0030900)|lymph node development (GO:0048535)|mesoderm development (GO:0007498)|natural killer cell differentiation (GO:0001779)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Peyer's patch development (GO:0048541)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of neutrophil differentiation (GO:0045660)|positive regulation of NK T cell differentiation (GO:0051138)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|retina development in camera-type eye (GO:0060041)|T cell differentiation (GO:0030217)|thymus development (GO:0048538)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.?(131)		haematopoietic_and_lymphoid_tissue(275)|lung(1)	276	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;7.29e-10)|all_hematologic(4;4.8e-07)				GACTTCCTAACGGAAAACTAA	0.493			"D,T"	BCL6	"ALL, DLBCL"																																	ENST00000331340.3				"Rec,Dom"	yes		7	7p12.2	10320	"D,T"	IKAROS family zinc finger 1			L	BCL6		"ALL, DLBCL"		131	Unknown(131)	p.?(131)	haematopoietic_and_lymphoid_tissue(131)	haematopoietic_and_lymphoid_tissue(275)|lung(1)	276						c.(340-342)aaC>aaT		IKAROS family zinc finger 1 (Ikaros)		C	,,,	1,3887		0,1,1943	79	81	81		182,182,182,182	3.6	1	7		81	0,8296		0,0,4148	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	IKZF1	NM_001220765.1,NM_001220768.1,NM_001220771.1,NM_006060.4	,,,	0,1,6091	TT,TC,CC		0.0,0.0257,0.0082	,,,	114/478,114/433,114/377,114/520	50444412	1,12183	1944	4148	6092	SO:0001819	synonymous_variant	10320				cell cycle|chromatin modification|mesoderm development	cytoplasm|nucleus	zinc ion binding	g.chr7:50444412C>T	U40462	CCDS59055.1, CCDS69299.1, CCDS75596.1, CCDS75597.1	7p12.2	2014-06-12	2006-08-25	2006-08-25	ENSG00000185811	ENSG00000185811		"Zinc fingers, C2H2-type", "IKAROS zinc fingers"	13176	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 92"	603023	"zinc finger protein, subfamily 1A, 1 (Ikaros)"	ZNFN1A1		1439790, 7935426	Standard	NM_006060		Approved	hIk-1, LyF-1, Hs.54452, IKAROS, PPP1R92	uc003tow.4	Q13422	OTTHUMG00000155907	ENST00000331340.3:c.342C>T	7.37:g.50444412C>T						IKZF1_ENST00000357364.4_Silent_p.N114N|IKZF1_ENST00000346667.4_Intron|IKZF1_ENST00000438033.1_Intron|IKZF1_ENST00000359197.5_Silent_p.N114N|IKZF1_ENST00000439701.1_Silent_p.N114N|IKZF1_ENST00000349824.4_Silent_p.N114N|IKZF1_ENST00000343574.5_Intron|IKZF1_ENST00000440768.2_Silent_p.N114N	p.N114N	NM_001220769.1|NM_001220772.1|NM_001220773.1|NM_001220775.1|NM_006060.4	NP_001207698.1|NP_001207701.1|NP_001207702.1|NP_001207704.1|NP_006051.1	Q13422	IKZF1_HUMAN			4	497	+	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;7.29e-10)|all_hematologic(4;4.8e-07)	114					A4D260|B4E0Z1|D3DVM5|O00598|Q53XL2|Q69BM4|Q8WVA3	Silent	SNP	ENST00000331340.3	37	c.342C>T																																																																																					0.493	IKZF1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000342242.1	NM_006060		8	26	0	0	0	1	0	8	26					T	50444412	C	T	50444412	2	4	398	1	0	0	0	0	0	0	0	1	7614	535	19	1		1	IKZF1	7	50444412	Silent	SNP	C	TCGA-V1-A9ZR-01A-11D-A41K-08		50444412	108694251	17	19443											
NUB1	51667	broad.mit.edu	37	chr7	151046260	151046260	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaattgagcgtggaacaggAaatgacaattatagaacaac	18	7	10	6	1	0	3	0	2	0	1	0	5	0	5	0	2	4	1	0	2	8	3			TCGA-V1-A9ZR-01A-11D-A41K-08	TCGA-V1-A9ZR-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1161c64b-4a41-4fce-a9d4-73d4f091c044	a78aaabf-765f-422c-80b1-597ef3a0c26d	g.chr7:151046260A>T	ENST00000355851.4	+	3	296	c.219A>T	c.(217-219)ggA>ggT	p.G73G	NUB1_ENST00000566856.1_Silent_p.G73G|NUB1_ENST00000413040.2_Silent_p.G97G|NUB1_ENST00000568733.1_Silent_p.G97G	NM_001243351.1	NP_001230280.1	Q9Y5A7	NUB1_HUMAN	negative regulator of ubiquitin-like proteins 1	73					positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|protein ubiquitination (GO:0016567)|response to interferon-gamma (GO:0034341)|response to tumor necrosis factor (GO:0034612)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)				endometrium(1)|large_intestine(7)|lung(3)	11			OV - Ovarian serous cystadenocarcinoma(82;0.00569)	UCEC - Uterine corpus endometrioid carcinoma (81;0.172)		GTGGAACAGGAAATGACAATT	0.373																																						ENST00000568733.1																			0				endometrium(1)|large_intestine(7)|lung(3)	11						c.(289-291)ggA>ggT		negative regulator of ubiquitin-like proteins 1							128	125	126					7																	151046260		1860	4102	5962	SO:0001819	synonymous_variant	51667				positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination|response to interferon-gamma|response to tumor necrosis factor|ubiquitin-dependent protein catabolic process	nucleus	protein binding	g.chr7:151046260A>T	AF300717	CCDS47751.1, CCDS47751.2, CCDS59089.1	7q36	2006-07-27			ENSG00000013374	ENSG00000013374			17623	protein-coding gene	gene with protein product	"NEDD8 ultimate buster-1"	607981				10508479, 11259415	Standard	NM_001243351		Approved	BS4, NYREN18	uc003wjx.3	Q9Y5A7	OTTHUMG00000157365	ENST00000355851.4:c.219A>T	7.37:g.151046260A>T						NUB1_ENST00000566856.1_Silent_p.G73G|NUB1_ENST00000355851.4_Silent_p.G73G|NUB1_ENST00000413040.2_Silent_p.G97G	p.G97G			Q9Y5A7	NUB1_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00569)	UCEC - Uterine corpus endometrioid carcinoma (81;0.172)	3	357	+			73					O95422|Q75MR9|Q8IX22|Q9BXR2	Silent	SNP	ENST00000355851.4	37	c.291A>T																																																																																					0.373	NUB1-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_016118		18	42	0	0	0	1	0	18	42					T	151046260	A	T	151046260	2	4	398	1	0	0	0	0	0	0	0	1	10714	233	9	5		5	NUB1	7	151046260	Silent	SNP	A	TCGA-V1-A9ZR-01A-11D-A41K-08	100601848	151046260	8092403	18	19444											
KIF13B	23303	broad.mit.edu	37	chr8	28928273	28928273	+	Frame_Shift_Del	DEL	G	G	-																															tgcttcccgccgatggaaccGtcattcttacctgcggggga																										TCGA-V1-A9ZR-01A-11D-A41K-08	TCGA-V1-A9ZR-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1161c64b-4a41-4fce-a9d4-73d4f091c044	a78aaabf-765f-422c-80b1-597ef3a0c26d	g.chr8:28928273delG	ENST00000524189.1	-	40	5267	c.5229delC	c.(5227-5229)gacfs	p.D1743fs	CTD-2647L4.5_ENST00000560714.1_RNA|KIF13B_ENST00000404075.3_Frame_Shift_Del_p.D262fs	NM_015254.3	NP_056069.2	Q9NQT8	KI13B_HUMAN	kinesin family member 13B	1743	CAP-Gly. {ECO:0000255|PROSITE- ProRule:PRU00045}.				metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|protein targeting (GO:0006605)|regulation of axonogenesis (GO:0050770)|signal transduction (GO:0007165)|T cell activation (GO:0042110)	axon (GO:0030424)|cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	14-3-3 protein binding (GO:0071889)|ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)|protein kinase binding (GO:0019901)			endometrium(6)|kidney(1)|lung(20)|urinary_tract(1)	28		Ovarian(32;0.000536)		KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)		CGATGGAACCGTCATTCTTAC	0.672																																						ENST00000524189.1																			0				endometrium(6)|kidney(1)|lung(20)|urinary_tract(1)	28						c.(5227-5229)gafs		kinesin family member 13B							13	15	15					8																	28928273		1954	4081	6035	SO:0001589	frameshift_variant	23303				microtubule-based movement|protein targeting|signal transduction|T cell activation	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein kinase binding	g.chr8:28928273delG	AB014539	CCDS55217.1	8p21	2008-07-30				ENSG00000197892		"Kinesins"	14405	protein-coding gene	gene with protein product		607350				9734811, 10859302, 16864656	Standard	NM_015254		Approved	GAKIN, KIAA0639	uc003xhh.4	Q9NQT8		ENST00000524189.1:c.5229delC	8.37:g.28928273delG	ENSP00000427900:p.Asp1743fs					KIF13B_ENST00000404075.3_Frame_Shift_Del_p.D262fs	p.D1743fs	NM_015254.3	NP_056069.2	Q9NQT8	KI13B_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)	40	5267	-		Ovarian(32;0.000536)	1743			CAP-Gly.		B4DGY5|B5MC45|F8VPJ2|O75134|Q9BYJ6	Frame_Shift_Del	DEL	ENST00000524189.1	37	c.5229delC	CCDS55217.1																																																																																				0.672	KIF13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376878.1			2	4						2	4	---	---	---	---	-	28928273	G	-	28928273	7	5	398	1	0	1	0	1	0	0	0	0	8275	1136	40	0	255	0	KIF13B	8	28928273	Frame_Shift_Del	DEL	G	TCGA-V1-A9ZR-01A-11D-A41K-08		28928273	117435749	19	19445											
HOOK3	84376	broad.mit.edu	37	chr8	42828436	42828436	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tatctttctgtatcaggtagTagaactacaaaacagattat	15	14	6	6	0	3	2	1	0	2	2	3	2	3	2	0	1	3	3	0	1	9	7			TCGA-V1-A9ZR-01A-11D-A41K-08	TCGA-V1-A9ZR-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1161c64b-4a41-4fce-a9d4-73d4f091c044	a78aaabf-765f-422c-80b1-597ef3a0c26d	g.chr8:42828436T>C	ENST00000307602.4	+	12	1327	c.1127T>C	c.(1126-1128)gTa>gCa	p.V376A		NM_032410.3	NP_115786.1	Q86VS8	HOOK3_HUMAN	hook microtubule-tethering protein 3	376					cytoplasmic microtubule organization (GO:0031122)|early endosome to late endosome transport (GO:0045022)|endosome organization (GO:0007032)|endosome to lysosome transport (GO:0008333)|Golgi localization (GO:0051645)|interkinetic nuclear migration (GO:0022027)|lysosome organization (GO:0007040)|microtubule anchoring at centrosome (GO:0034454)|negative regulation of neurogenesis (GO:0050768)|neuronal stem cell maintenance (GO:0097150)|protein localization to centrosome (GO:0071539)|protein transport (GO:0015031)	centriolar satellite (GO:0034451)|centrosome (GO:0005813)|cis-Golgi network (GO:0005801)|cytoplasm (GO:0005737)|FHF complex (GO:0070695)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|microtubule organizing center (GO:0005815)|pericentriolar material (GO:0000242)	identical protein binding (GO:0042802)|microtubule binding (GO:0008017)			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	31	Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.000105)|Lung NSC(58;0.000419)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	Lung(22;0.048)|LUSC - Lung squamous cell carcinoma(45;0.114)			TATCAGGTAGTAGAACTACAA	0.303			T	RET	papillary thyroid																																	ENST00000307602.4				Dom	yes		8	8p11.21	84376	T	hook homolog 3			E	RET		papillary thyroid		0				NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	31						c.(1126-1128)gTa>gCa		hook microtubule-tethering protein 3							48	52	51					8																	42828436		2202	4295	6497	SO:0001583	missense	84376				cytoplasmic microtubule organization|early endosome to late endosome transport|endosome organization|endosome to lysosome transport|Golgi localization|interkinetic nuclear migration|lysosome organization|microtubule anchoring|negative regulation of neurogenesis|protein localization to centrosome|protein transport	cis-Golgi network|FHF complex|microtubule|pericentriolar material	identical protein binding|microtubule binding	g.chr8:42828436T>C	AK090540	CCDS6139.1	8p11.21	2013-08-21	2013-08-21		ENSG00000168172	ENSG00000168172			23576	protein-coding gene	gene with protein product		607825	"hook homolog 3 (Drosophila)"			9927460	Standard	NM_032410		Approved	HK3	uc003xpr.3	Q86VS8	OTTHUMG00000165278	ENST00000307602.4:c.1127T>C	8.37:g.42828436T>C	ENSP00000305699:p.Val376Ala						p.V376A	NM_032410.3	NP_115786.1	Q86VS8	HOOK3_HUMAN	Lung(22;0.048)|LUSC - Lung squamous cell carcinoma(45;0.114)		12	1327	+	Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.000105)|Lung NSC(58;0.000419)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	376					D3DSY8|Q8NBH0|Q9BY13	Missense_Mutation	SNP	ENST00000307602.4	37	c.1127T>C	CCDS6139.1	.	.	.	.	.	.	.	.	.	.	T	14.51	2.556722	0.45487	.	.	ENSG00000168172	ENST00000307602	T	0.16897	2.31	5.3	5.3	0.74995	.	0.000000	0.85682	D	0.000000	T	0.18509	0.0444	L	0.41824	1.3	0.80722	D	1	B	0.27380	0.177	B	0.37731	0.257	T	0.03545	-1.1026	10	0.08599	T	0.76	-26.9537	15.5356	0.76001	0.0:0.0:0.0:1.0	.	376	Q86VS8	HOOK3_HUMAN	A	376	ENSP00000305699:V376A	ENSP00000305699:V376A	V	+	2	0	HOOK3	42947593	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	7.525000	0.81892	2.125000	0.65367	0.460000	0.39030	GTA		0.303	HOOK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383172.2	NM_032410		14	34	0	0	0	1	0	14	34					C	42828436	T	C	42828436	3	2	398	1	0	0	0	0	1	0	0	0	7284	1638	57	4	1173	4	HOOK3	8	42828436	Missense_Mutation	SNP	T	TCGA-V1-A9ZR-01A-11D-A41K-08	13900163	42828436	103535586	20	19446											
ARHGAP39	80728	broad.mit.edu	37	chr8	145830944	145830944	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgttcgaccctggaatcctcGactccggcaggtcgacatta	8	10	10	13	4	0	0	0	0	0	0	5	4	2	1	3	3	0	2	3	3	2	2			TCGA-V1-A9ZR-01A-11D-A41K-08	TCGA-V1-A9ZR-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1161c64b-4a41-4fce-a9d4-73d4f091c044	a78aaabf-765f-422c-80b1-597ef3a0c26d	g.chr8:145830944G>A	ENST00000276826.5	-	1	257	c.56C>T	c.(55-57)tCg>tTg	p.S19L	ARHGAP39_ENST00000540274.1_Missense_Mutation_p.S19L|ARHGAP39_ENST00000377307.2_Missense_Mutation_p.S19L			Q9C0H5	RHG39_HUMAN	Rho GTPase activating protein 39	19					axon guidance (GO:0007411)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nucleus (GO:0005634)				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22						TGGAATCCTCGACTCCGGCAG	0.612																																						ENST00000276826.5																			0				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22						c.(55-57)tCg>tTg		Rho GTPase activating protein 39							107	86	93					8																	145830944		2203	4300	6503	SO:0001583	missense	80728				axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|nucleus	GTPase activator activity	g.chr8:145830944G>A		CCDS34971.1	8q24.3	2011-06-29			ENSG00000147799	ENSG00000147799		"Rho GTPase activating proteins"	29351	protein-coding gene	gene with protein product	"RhoGAP93B homolog (Drosophila)", "crossGAP homolog (Drosophila)"	615880				15755809	Standard	XM_005272344		Approved	KIAA1688, Vilse, CrGAP	uc003zds.1	Q9C0H5	OTTHUMG00000165182	ENST00000276826.5:c.56C>T	8.37:g.145830944G>A	ENSP00000276826:p.Ser19Leu					ARHGAP39_ENST00000540274.1_Missense_Mutation_p.S19L|ARHGAP39_ENST00000377307.2_Missense_Mutation_p.S19L	p.S19L			Q9C0H5	RHG39_HUMAN			1	257	-			19					B4E1I1	Missense_Mutation	SNP	ENST00000276826.5	37	c.56C>T		.	.	.	.	.	.	.	.	.	.	G	14.17	2.455653	0.43634	.	.	ENSG00000147799	ENST00000276826;ENST00000377307;ENST00000540274	T;T;T	0.23754	1.89;1.89;1.89	4.89	4.89	0.63831	.	0.959827	0.08500	N	0.936527	T	0.21718	0.0523	N	0.22421	0.69	0.09310	N	1	B;B	0.25743	0.082;0.133	B;B	0.21917	0.016;0.037	T	0.15235	-1.0444	10	0.59425	D	0.04	0.3025	13.5484	0.61717	0.0:0.0:1.0:0.0	.	19;19	Q9C0H5;Q9C0H5-2	RHG39_HUMAN;.	L	19	ENSP00000276826:S19L;ENSP00000366522:S19L;ENSP00000445075:S19L	ENSP00000276826:S19L	S	-	2	0	ARHGAP39	145801752	0.111000	0.22076	0.005000	0.12908	0.012000	0.07955	3.337000	0.52120	2.266000	0.75297	0.561000	0.74099	TCG		0.612	ARHGAP39-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000382509.1			23	50	0	0	0	1	0	23	50					A	145830944	G	A	145830944	3	1	398	1	0	0	0	0	1	0	0	0	884	1059	37	2	3332	2	ARHGAP39	8	145830944	Missense_Mutation	SNP	G	TCGA-V1-A9ZR-01A-11D-A41K-08	103002508	145830944	533078	21	19447											
GABBR2	9568	broad.mit.edu	37	chr9	101235478	101235478	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctcaggggctcgaaatccaCgccaatgtagccctccatgg	9	7	11	14	2	1	0	1	0	0	0	4	1	3	0	4	3	1	3	4	3	3	1			TCGA-V1-A9ZR-01A-11D-A41K-08	TCGA-V1-A9ZR-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1161c64b-4a41-4fce-a9d4-73d4f091c044	a78aaabf-765f-422c-80b1-597ef3a0c26d	g.chr9:101235478C>T	ENST00000259455.2	-	6	1408	c.949G>A	c.(949-951)Gtg>Atg	p.V317M	GABBR2_ENST00000477471.1_5'Flank	NM_005458.7	NP_005449.5	O75899	GABR2_HUMAN	gamma-aminobutyric acid (GABA) B receptor, 2	317					G-protein coupled receptor signaling pathway (GO:0007186)|gamma-aminobutyric acid signaling pathway (GO:0007214)|negative regulation of adenylate cyclase activity (GO:0007194)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|G-protein coupled receptor heterodimeric complex (GO:0038039)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	G-protein coupled GABA receptor activity (GO:0004965)		NOTCH1_ENST00000277541/GABBR2(2)	breast(4)|endometrium(4)|large_intestine(12)|lung(21)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	49		Acute lymphoblastic leukemia(62;0.0527)			Baclofen(DB00181)	TCGAAATCCACGCCAATGTAG	0.567																																						ENST00000259455.2																		NOTCH1_ENST00000277541/GABBR2(2)	0				breast(4)|endometrium(4)|large_intestine(12)|lung(21)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	49						c.(949-951)Gtg>Atg		gamma-aminobutyric acid (GABA) B receptor, 2	Baclofen(DB00181)						161	118	133					9																	101235478		2203	4300	6503	SO:0001583	missense	9568				negative regulation of adenylate cyclase activity|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic membrane	G-protein coupled receptor activity|GABA-B receptor activity	g.chr9:101235478C>T	AF069755	CCDS6736.1	9q22.1-q22.3	2012-08-29	2006-02-16	2006-02-16	ENSG00000136928	ENSG00000136928		"GABA receptors", "GPCR / Class C : GABA(B) receptors"	4507	protein-coding gene	gene with protein product		607340	"G protein-coupled receptor 51"	GPR51		10087195	Standard	NM_005458		Approved	HG20, GABABR2, GPRC3B	uc004ays.3	O75899	OTTHUMG00000020345	ENST00000259455.2:c.949G>A	9.37:g.101235478C>T	ENSP00000259455:p.Val317Met						p.V317M	NM_005458.7	NP_005449.5	O75899	GABR2_HUMAN			6	1408	-		Acute lymphoblastic leukemia(62;0.0527)	317					O75974|O75975|Q5VXZ2|Q8WX04|Q9P1R2|Q9UNR1|Q9UNS9	Missense_Mutation	SNP	ENST00000259455.2	37	c.949G>A	CCDS6736.1	.	.	.	.	.	.	.	.	.	.	C	19.36	3.813354	0.70912	.	.	ENSG00000136928	ENST00000259455	T	0.27256	1.68	5.94	5.94	0.96194	Extracellular ligand-binding receptor (1);	0.000000	0.85682	D	0.000000	T	0.47893	0.1470	L	0.52573	1.65	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.33497	-0.9866	10	0.72032	D	0.01	.	17.8674	0.88799	0.0:1.0:0.0:0.0	.	317	O75899	GABR2_HUMAN	M	317	ENSP00000259455:V317M	ENSP00000259455:V317M	V	-	1	0	GABBR2	100275299	1.000000	0.71417	0.969000	0.41365	0.752000	0.42762	7.787000	0.85759	2.820000	0.97059	0.650000	0.86243	GTG		0.567	GABBR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053373.1			7	27	0	0	0	1	0	7	27					T	101235478	C	T	101235478	3	4	398	1	0	0	0	0	1	0	0	0	6156	536	19	1	1932	1	GABBR2	9	101235478	Missense_Mutation	SNP	C	TCGA-V1-A9ZR-01A-11D-A41K-08		101235478	39977953	22	19448											
GSN	2934	broad.mit.edu	37	chr9	124072998	124072998	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	caggattcaagcacgtggtaCccaacgaggtggtggtgcag	10	7	15	9	2	1	0	1	0	0	0	1	2	1	1	1	5	4	3	1	5	3	2			TCGA-V1-A9ZR-01A-11D-A41K-08	TCGA-V1-A9ZR-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1161c64b-4a41-4fce-a9d4-73d4f091c044	a78aaabf-765f-422c-80b1-597ef3a0c26d	g.chr9:124072998C>T	ENST00000373818.4	+	4	610	c.541C>T	c.(541-543)Ccc>Tcc	p.P181S	GSN_ENST00000373807.1_5'Flank|GSN_ENST00000449733.1_Missense_Mutation_p.P130S|GSN_ENST00000485767.1_3'UTR|GSN_ENST00000373823.3_Missense_Mutation_p.P130S|GSN_ENST00000412819.1_Missense_Mutation_p.P130S|GSN_ENST00000436847.1_Missense_Mutation_p.P141S|GSN_ENST00000373808.2_Missense_Mutation_p.P130S|GSN_ENST00000341272.2_Missense_Mutation_p.P130S|GSN_ENST00000545652.1_Missense_Mutation_p.P138S|GSN_ENST00000394353.2_Missense_Mutation_p.P141S	NM_000177.4|NM_001258029.1	NP_000168.1|NP_001244958.1	P06396	GELS_HUMAN	gelsolin	181					actin filament polymerization (GO:0030041)|actin filament severing (GO:0051014)|aging (GO:0007568)|apoptotic process (GO:0006915)|barbed-end actin filament capping (GO:0051016)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to cadmium ion (GO:0071276)|cilium morphogenesis (GO:0060271)|oligodendrocyte development (GO:0014003)|phosphatidylinositol-mediated signaling (GO:0048015)|regulation of cell adhesion (GO:0030155)|response to ethanol (GO:0045471)|response to folic acid (GO:0051593)|tissue regeneration (GO:0042246)|vesicle-mediated transport (GO:0016192)	actin cytoskeleton (GO:0015629)|blood microparticle (GO:0072562)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|perinuclear region of cytoplasm (GO:0048471)|protein complex (GO:0043234)|ruffle (GO:0001726)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)	21						GCACGTGGTACCCAACGAGGT	0.577																																						ENST00000373823.3																			0				NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)	21						c.(388-390)Ccc>Tcc		gelsolin							188	134	152					9																	124072998		2203	4300	6503	SO:0001583	missense	2934				actin filament polymerization|actin filament severing|barbed-end actin filament capping|cellular component disassembly involved in apoptosis|cilium morphogenesis	actin cytoskeleton|cytosol	actin binding|calcium ion binding|protein binding	g.chr9:124072998C>T	X04412	CCDS6828.1, CCDS6829.1, CCDS48011.1, CCDS65118.1, CCDS75890.1, CCDS75891.1	9q33	2010-04-27	2010-04-27		ENSG00000148180	ENSG00000148180			4620	protein-coding gene	gene with protein product	"amyloidosis, Finnish type"	137350	"gelsolin (amyloidosis, Finnish type)"			1652889	Standard	NM_001127662		Approved	DKFZp313L0718	uc004blf.1	P06396	OTTHUMG00000020584	ENST00000373818.4:c.541C>T	9.37:g.124072998C>T	ENSP00000362924:p.Pro181Ser					GSN_ENST00000545652.1_Missense_Mutation_p.P138S|GSN_ENST00000373818.4_Missense_Mutation_p.P181S|GSN_ENST00000412819.1_Missense_Mutation_p.P130S|GSN_ENST00000373808.2_Missense_Mutation_p.P130S|GSN_ENST00000485767.1_3'UTR|GSN_ENST00000436847.1_Missense_Mutation_p.P141S|GSN_ENST00000341272.2_Missense_Mutation_p.P130S|GSN_ENST00000394353.2_Missense_Mutation_p.P141S|GSN_ENST00000449733.1_Missense_Mutation_p.P130S	p.P130S			P06396	GELS_HUMAN			12	1293	+			181			Actin-severing (Potential).		A2A418|A8MUD1|A8MYN7|B7Z373|B7Z5V1|F5H1A8|Q5T0I2|Q8WVV7	Missense_Mutation	SNP	ENST00000373818.4	37	c.388C>T	CCDS6828.1	.	.	.	.	.	.	.	.	.	.	C	16.78	3.217946	0.58560	.	.	ENSG00000148180	ENST00000373823;ENST00000432226;ENST00000449773;ENST00000436847;ENST00000394353;ENST00000449733;ENST00000412819;ENST00000341272;ENST00000373808;ENST00000394352;ENST00000456109;ENST00000545652;ENST00000373818	T;T;T;T;T;T;T;T;T;T;T	0.62105	0.05;0.05;0.05;0.05;0.05;0.05;0.05;0.05;0.05;0.05;0.05	5.33	5.33	0.75918	.	0.096164	0.64402	D	0.000001	T	0.54743	0.1877	L	0.39147	1.195	0.58432	D	0.999992	B;B;B;B	0.18013	0.0;0.025;0.001;0.001	B;B;B;B	0.11329	0.0;0.006;0.001;0.002	T	0.48768	-0.9006	10	0.26408	T	0.33	-17.1482	17.5915	0.87998	0.0:1.0:0.0:0.0	.	154;138;141;181	B7Z9A0;F5H1A8;B7Z373;P06396	.;.;.;GELS_HUMAN	S	130;130;141;141;141;130;130;130;130;114;104;138;181	ENSP00000362929:P130S;ENSP00000404226:P130S;ENSP00000410657:P141S;ENSP00000411293:P141S;ENSP00000377882:P141S;ENSP00000409358:P130S;ENSP00000416586:P130S;ENSP00000340888:P130S;ENSP00000362914:P130S;ENSP00000445823:P138S;ENSP00000362924:P181S	ENSP00000340888:P130S	P	+	1	0	GSN	123112819	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.757000	0.62213	2.492000	0.84095	0.655000	0.94253	CCC		0.577	GSN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000053861.1	NM_000177		8	16	0	0	0	1	0	8	16					T	124072998	C	T	124072998	3	4	398	1	0	0	0	0	1	0	0	0	6825	507	18	3	583	3	GSN	9	124072998	Missense_Mutation	SNP	C	TCGA-V1-A9ZR-01A-11D-A41K-08	22837520	124072998	17140433	23	19449											
GRIN1	2902	broad.mit.edu	37	chr9	140036477	140036477	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtccacaggtctacgccatcCtagttagccatccacctacc	9	9	6	17	1	1	0	0	0	1	0	4	0	4	0	7	1	3	1	7	1	4	4			TCGA-V1-A9ZR-01A-11D-A41K-08	TCGA-V1-A9ZR-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1161c64b-4a41-4fce-a9d4-73d4f091c044	a78aaabf-765f-422c-80b1-597ef3a0c26d	g.chr9:140036477C>A	ENST00000371561.3	+	2	1368	c.271C>A	c.(271-273)Cta>Ata	p.L91I	GRIN1_ENST00000350902.5_Missense_Mutation_p.L91I|GRIN1_ENST00000371553.3_Missense_Mutation_p.L91I|GRIN1_ENST00000471122.1_3'UTR|GRIN1_ENST00000371560.3_Missense_Mutation_p.L91I|GRIN1_ENST00000371555.4_Missense_Mutation_p.L91I|GRIN1_ENST00000371546.4_Missense_Mutation_p.L91I|GRIN1_ENST00000371550.4_Missense_Mutation_p.L91I|GRIN1_ENST00000315048.3_Missense_Mutation_p.L91I|GRIN1_ENST00000371559.4_Missense_Mutation_p.L91I	NM_007327.3	NP_015566.1	Q05586	NMDZ1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 1	91					adult locomotory behavior (GO:0008344)|calcium ion homeostasis (GO:0055074)|calcium ion transmembrane transport (GO:0070588)|cation transport (GO:0006812)|cellular calcium ion homeostasis (GO:0006874)|cellular response to manganese ion (GO:0071287)|cerebral cortex development (GO:0021987)|conditioned taste aversion (GO:0001661)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|long-term memory (GO:0007616)|male mating behavior (GO:0060179)|negative regulation of neuron apoptotic process (GO:0043524)|olfactory learning (GO:0008355)|pons maturation (GO:0021586)|positive regulation of apoptotic process (GO:0043065)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prepulse inhibition (GO:0060134)|propylene metabolic process (GO:0018964)|protein tetramerization (GO:0051262)|regulation of axonogenesis (GO:0050770)|regulation of dendrite morphogenesis (GO:0048814)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of membrane potential (GO:0042391)|regulation of respiratory gaseous exchange (GO:0043576)|regulation of synapse assembly (GO:0051963)|respiratory gaseous exchange (GO:0007585)|response to amphetamine (GO:0001975)|response to calcium ion (GO:0051592)|response to ethanol (GO:0045471)|response to fungicide (GO:0060992)|response to morphine (GO:0043278)|rhythmic process (GO:0048511)|sensory perception of pain (GO:0019233)|social behavior (GO:0035176)|suckling behavior (GO:0001967)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|visual learning (GO:0008542)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|dendrite membrane (GO:0032590)|dendritic spine (GO:0043197)|endoplasmic reticulum (GO:0005783)|excitatory synapse (GO:0060076)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)|synaptic cleft (GO:0043083)|synaptic vesicle (GO:0008021)|terminal bouton (GO:0043195)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate binding (GO:0016595)|glycine binding (GO:0016594)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|neurotransmitter binding (GO:0042165)|voltage-gated cation channel activity (GO:0022843)			NS(1)|breast(1)|endometrium(1)|kidney(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;6.87e-05)|Epithelial(140;0.00095)	Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Gabapentin(DB00996)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Orphenadrine(DB01173)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	CTACGCCATCCTAGTTAGCCA	0.602																																					NSCLC(113;717 1653 2089 20474 37618)	ENST00000371561.3																			0				NS(1)|breast(1)|endometrium(1)|kidney(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						c.(271-273)Cta>Ata		glutamate receptor, ionotropic, N-methyl D-aspartate 1	L-Glutamic Acid(DB00142)|Orphenadrine(DB01173)						421	341	368					9																	140036477		2203	4300	6503	SO:0001583	missense	2902				ionotropic glutamate receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|regulation of excitatory postsynaptic membrane potential|response to ethanol|visual learning	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane|synaptic vesicle|synaptosome	calcium ion binding|calmodulin binding|extracellular-glutamate-gated ion channel activity|glutamate binding|glycine binding	g.chr9:140036477C>A		CCDS7031.1, CCDS7032.1, CCDS43910.1, CCDS55354.1, CCDS55355.1	9q34.3	2013-01-11			ENSG00000176884	ENSG00000176884		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4584	protein-coding gene	gene with protein product		138249	"N-methyl-D-aspartate receptor subunit NR1"	NMDAR1		1350383	Standard	NM_000832		Approved	GluN1	uc004cln.3	Q05586	OTTHUMG00000020976	ENST00000371561.3:c.271C>A	9.37:g.140036477C>A	ENSP00000360616:p.Leu91Ile					GRIN1_ENST00000371546.4_Missense_Mutation_p.L91I|GRIN1_ENST00000371550.4_Missense_Mutation_p.L91I|GRIN1_ENST00000471122.1_3'UTR|GRIN1_ENST00000371559.4_Missense_Mutation_p.L91I|GRIN1_ENST00000350902.5_Missense_Mutation_p.L91I|GRIN1_ENST00000371553.3_Missense_Mutation_p.L91I|GRIN1_ENST00000371555.4_Missense_Mutation_p.L91I|GRIN1_ENST00000315048.3_Missense_Mutation_p.L91I|GRIN1_ENST00000371560.3_Missense_Mutation_p.L91I	p.L91I	NM_007327.3	NP_015566.1	Q05586	NMDZ1_HUMAN	STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;6.87e-05)|Epithelial(140;0.00095)	2	1368	+	all_cancers(76;0.0926)		91					A6NLK7|A6NLR1|C9K0X1|P35437|Q12867|Q12868|Q5VSF3|Q5VSF4|Q5VSF5|Q5VSF6|Q5VSF7|Q5VSF8|Q9UPF8|Q9UPF9	Missense_Mutation	SNP	ENST00000371561.3	37	c.271C>A	CCDS7031.1	.	.	.	.	.	.	.	.	.	.	C	7.829	0.719511	0.15372	.	.	ENSG00000176884	ENST00000371561;ENST00000315048;ENST00000350902;ENST00000371550;ENST00000371546;ENST00000371555;ENST00000371553;ENST00000371559;ENST00000371560	T;T;T;T;T;T;T;T;T	0.79554	-1.28;-1.28;-1.28;-1.28;-1.28;-1.28;-1.28;-1.28;-1.28	3.37	2.09	0.27110	Extracellular ligand-binding receptor (1);	0.000000	0.64402	D	0.000011	T	0.67126	0.2860	N	0.03948	-0.315	0.47476	D	0.999431	D;B;P;P;P;B	0.54397	0.966;0.226;0.904;0.841;0.922;0.025	P;B;P;P;P;B	0.60473	0.869;0.326;0.802;0.802;0.875;0.186	T	0.61912	-0.6965	10	0.21014	T	0.42	.	3.9803	0.09492	0.0:0.4293:0.0:0.5707	.	91;91;91;91;91;91	Q5VSF4;Q5VSF5;Q05586-2;Q05586-3;Q05586;A2AVK2	.;.;.;.;NMDZ1_HUMAN;.	I	91	ENSP00000360616:L91I;ENSP00000316696:L91I;ENSP00000316915:L91I;ENSP00000360605:L91I;ENSP00000360601:L91I;ENSP00000360610:L91I;ENSP00000360608:L91I;ENSP00000360614:L91I;ENSP00000360615:L91I	ENSP00000316696:L91I	L	+	1	2	GRIN1	139156298	1.000000	0.71417	0.999000	0.59377	0.884000	0.51177	1.862000	0.39448	0.682000	0.31407	0.462000	0.41574	CTA		0.602	GRIN1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000055267.3	NM_007327		28	105	1	0	2.80507e-11	1	3.01285e-11	28	105					A	140036477	C	A	140036477	3	1	398	1	0	0	0	0	1	0	0	0	6778	680	24	5	277	5	GRIN1	9	140036477	Missense_Mutation	SNP	C	TCGA-V1-A9ZR-01A-11D-A41K-08	15963479	140036477	1176954	24	19450											
CPXM2	119587	broad.mit.edu	37	chr10	125528231	125528231	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cccgcgatgtagtggaactcGggctcacctttactcaaaga	10	9	10	12	3	2	1	2	0	0	1	3	3	2	2	2	2	2	2	2	2	4	3			TCGA-V1-A9ZR-01A-11D-A41K-08	TCGA-V1-A9ZR-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1161c64b-4a41-4fce-a9d4-73d4f091c044	a78aaabf-765f-422c-80b1-597ef3a0c26d	g.chr10:125528231G>A	ENST00000241305.3	-	9	1264	c.1110C>T	c.(1108-1110)ccC>ccT	p.P370P	CPXM2_ENST00000368854.3_5'UTR	NM_198148.2	NP_937791.2	Q8N436	CPXM2_HUMAN	carboxypeptidase X (M14 family), member 2	370					cell adhesion (GO:0007155)	extracellular space (GO:0005615)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)	47		all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233)		COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237)		AGTGGAACTCGGGCTCACCTT	0.567																																						ENST00000241305.3																			0				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)	47						c.(1108-1110)ccC>ccT		carboxypeptidase X (M14 family), member 2							59	63	61					10																	125528231		2203	4300	6503	SO:0001819	synonymous_variant	119587				cell adhesion|proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding	g.chr10:125528231G>A	AY358565	CCDS7637.1	10q26	2012-02-10			ENSG00000121898	ENSG00000121898			26977	protein-coding gene	gene with protein product	"cytosolic carboxypeptidase"					12975309	Standard	NM_198148		Approved	UNQ676, CPX2	uc001lhk.1	Q8N436	OTTHUMG00000019206	ENST00000241305.3:c.1110C>T	10.37:g.125528231G>A						CPXM2_ENST00000368854.3_5'UTR	p.P370P	NM_198148.2	NP_937791.2	Q8N436	CPXM2_HUMAN		COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237)	9	1264	-		all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233)	370					B4E3Q2	Silent	SNP	ENST00000241305.3	37	c.1110C>T	CCDS7637.1																																																																																				0.567	CPXM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050853.1	NM_198148		16	54	0	0	0	1	0	16	54					A	125528231	G	A	125528231	2	1	398	1	0	0	0	0	0	0	0	1	3838	1103	39	2		2	CPXM2	10	125528231	Silent	SNP	G	TCGA-V1-A9ZR-01A-11D-A41K-08		125528231	10006516	25	19451											
MUC6	4588	broad.mit.edu	37	chr11	1018412	1018412	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atctgtgcgtgggtaggggtGatgactgtgtgagtacttgg	6	13	18	4	1	1	3	0	3	1	0	1	3	1	3	0	4	2	2	0	4	2	3			TCGA-V1-A9ZR-01A-11D-A41K-08	TCGA-V1-A9ZR-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1161c64b-4a41-4fce-a9d4-73d4f091c044	a78aaabf-765f-422c-80b1-597ef3a0c26d	g.chr11:1018412G>T	ENST00000421673.2	-	31	4439	c.4389C>A	c.(4387-4389)atC>atA	p.I1463I		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	1463	Pro-rich.|Thr-rich.				cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)	extracellular matrix structural constituent (GO:0005201)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GGGTAGGGGTGATGACTGTGT	0.572																																						ENST00000421673.2																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						c.(4387-4389)atC>atA		mucin 6, oligomeric mucus/gel-forming							343	330	334					11																	1018412		2198	4288	6486	SO:0001819	synonymous_variant	4588				maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent	g.chr11:1018412G>T	U97698, AY312160	CCDS44513.1	11p15.5	2008-02-05	2006-03-14		ENSG00000184956	ENSG00000184956		"Mucins"	7517	protein-coding gene	gene with protein product		158374	"mucin 6, gastric"			7680650	Standard	NM_005961		Approved		uc001lsw.2	Q6W4X9	OTTHUMG00000165140	ENST00000421673.2:c.4389C>A	11.37:g.1018412G>T							p.I1463I	NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	31	4439	-		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	1463			Pro-rich.|Thr-rich.		O15329|Q14394|Q2TUQ5|Q4L207|Q8N8I1|Q8NAK1	Silent	SNP	ENST00000421673.2	37	c.4389C>A	CCDS44513.1																																																																																				0.572	MUC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382120.2	XM_290540		5	339	1	0	0.0477658	1	0.0494717	5	339					T	1018412	G	T	1018412	2	4	398	1	0	0	0	0	0	0	0	1	9980	1280	45	5		5	MUC6	11	1018412	Silent	SNP	G	TCGA-V1-A9ZR-01A-11D-A41K-08		1018412	133988104	26	19452											
TROAP	10024	broad.mit.edu	37	chr12	49721016	49721016	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctcttcctaaaggagaacGcgaggttgtcactcactcag	10	10	9	12	2	4	1	3	0	1	1	6	3	5	1	1	2	1	1	1	2	3	3	rs138091021		TCGA-V1-A9ZR-01A-11D-A41K-08	TCGA-V1-A9ZR-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1161c64b-4a41-4fce-a9d4-73d4f091c044	a78aaabf-765f-422c-80b1-597ef3a0c26d	g.chr12:49721016G>A	ENST00000257909.3	+	8	870	c.794G>A	c.(793-795)cGc>cAc	p.R265H	RP11-161H23.9_ENST00000553259.1_RNA|TROAP_ENST00000547923.1_5'UTR|TROAP_ENST00000551245.1_Missense_Mutation_p.R265H	NM_005480.3	NP_005471.3	Q12815	TROAP_HUMAN	trophinin associated protein	265					cell adhesion (GO:0007155)	cytoplasm (GO:0005737)				breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	32						AAAGGAGAACGCGAGGTTGTC	0.478																																						ENST00000551245.1																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	32						c.(793-795)cGc>cAc		trophinin associated protein		G	HIS/ARG	0,4406		0,0,2203	130	117	122		794	-6.2	0	12	dbSNP_134	122	1,8599	1.2+/-3.3	0,1,4299	no	missense	TROAP	NM_005480.3	29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	265/779	49721016	1,13005	2203	4300	6503	SO:0001583	missense	10024				cell adhesion	cytoplasm		g.chr12:49721016G>A	U04810	CCDS8784.1, CCDS41779.1, CCDS61117.1	12q13.12	2012-10-17	2012-10-17		ENSG00000135451	ENSG00000135451			12327	protein-coding gene	gene with protein product	"tastin"	603872				7758945	Standard	NM_005480		Approved	TASTIN	uc001rtx.4	Q12815	OTTHUMG00000169486	ENST00000257909.3:c.794G>A	12.37:g.49721016G>A	ENSP00000257909:p.Arg265His					TROAP_ENST00000547923.1_5'UTR|TROAP_ENST00000257909.3_Missense_Mutation_p.R265H	p.R265H			Q12815	TROAP_HUMAN			8	905	+			265					F8VSF9|Q6PJU7|Q8N5B2	Missense_Mutation	SNP	ENST00000257909.3	37	c.794G>A	CCDS8784.1	.	.	.	.	.	.	.	.	.	.	G	3.105	-0.183855	0.06340	0.0	1.16E-4	ENSG00000135451	ENST00000551245;ENST00000550346;ENST00000257909;ENST00000547807	.	.	.	5.13	-6.15	0.02105	.	0.845097	0.10278	N	0.693906	T	0.05547	0.0146	N	0.00554	-1.385	0.22050	N	0.999398	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.39522	-0.9610	9	0.02654	T	1	0.4861	7.3217	0.26531	0.253:0.5098:0.2372:0.0	.	265;265	F8W130;Q12815	.;TROAP_HUMAN	H	265;148;265;259	.	ENSP00000257909:R265H	R	+	2	0	TROAP	48007283	0.103000	0.21917	0.032000	0.17829	0.902000	0.53008	0.282000	0.18829	-0.770000	0.04614	-0.294000	0.09567	CGC		0.478	TROAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000404300.1	NM_005480		25	51	0	0	0	1	0	25	51					A	49721016	G	A	49721016	3	1	398	1	0	0	0	0	1	0	0	0	16572	1087	38	1	922	1	TROAP	12	49721016	Missense_Mutation	SNP	G	TCGA-V1-A9ZR-01A-11D-A41K-08		49721016	84130879	27	19453											
SIP1	8487	broad.mit.edu	37	chr14	39597482	39597482	+	Splice_Site	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	caccccctctttttttttttAggcaacagtaactagtgtct	8	17	5	11	0	2	0	0	0	2	0	2	0	2	0	2	1	2	2	2	1	4	8			TCGA-V1-A9ZR-01A-11D-A41K-08	TCGA-V1-A9ZR-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1161c64b-4a41-4fce-a9d4-73d4f091c044	a78aaabf-765f-422c-80b1-597ef3a0c26d	g.chr14:39597482A>T	ENST00000308317.6	+	7	647		c.e7-1		GEMIN2_ENST00000396249.2_Splice_Site|GEMIN2_ENST00000250379.8_Splice_Site	NM_003616.2	NP_003607.1	O14893	GEMI2_HUMAN	gem (nuclear organelle) associated protein 2						gene expression (GO:0010467)|mRNA processing (GO:0006397)|ncRNA metabolic process (GO:0034660)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)|spliceosomal complex assembly (GO:0000245)|spliceosomal snRNP assembly (GO:0000387)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMN complex (GO:0032797)|SMN-Sm protein complex (GO:0034719)|spliceosomal complex (GO:0005681)											TTTTTTTTTTAGGCAACAGTA	0.308																																						ENST00000308317.6																			0											c.e7-1		gem (nuclear organelle) associated protein 2							66	71	69					14																	39597482		2203	4300	6503	SO:0001630	splice_region_variant	8487				ncRNA metabolic process|spliceosomal snRNP assembly|spliceosome assembly	Cajal body|cytosol|spliceosomal complex	protein binding	g.chr14:39597482A>T	AF027150	CCDS9669.1, CCDS32068.1, CCDS41946.1	14q21.1	2011-08-04	2011-08-04	2011-08-04	ENSG00000092208	ENSG00000092208			10884	protein-coding gene	gene with protein product		602595	"survival of motor neuron protein interacting protein 1"	SIP1		9323130, 9323129, 11121410	Standard	NM_003616		Approved		uc001wuq.3	O14893	OTTHUMG00000028816	ENST00000308317.6:c.565-1A>T	14.37:g.39597482A>T						GEMIN2_ENST00000250379.8_Splice_Site|GEMIN2_ENST00000396249.2_Splice_Site		NM_003616.2	NP_003607.1	O14893	GEMI2_HUMAN			7	647	+								B2R9W8|Q2M3B3|Q9H4F5|Q9NS77|Q9NS78|Q9NS79	Splice_Site	SNP	ENST00000308317.6	37		CCDS9669.1	.	.	.	.	.	.	.	.	.	.	A	21.1	4.100661	0.76983	.	.	ENSG00000092208	ENST00000308317;ENST00000396249;ENST00000250379;ENST00000527381	.	.	.	5.77	5.77	0.91146	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.3281	0.66534	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	GEMIN2	38667233	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	6.625000	0.74248	2.330000	0.79161	0.528000	0.53228	.		0.308	GEMIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276730.2		Intron	4	50	0	0	0	1	0	4	50					T	39597482	A	T	39597482	5	4	398	1	0	0	0	0	0	0	1	0	14327	434	15	5	589	5	SIP1	14	39597482	Splice_Site	SNP	A	TCGA-V1-A9ZR-01A-11D-A41K-08		39597482	67752058	28	19454											
SYNE2	23224	broad.mit.edu	37	chr14	64520265	64520265	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtattaaagctgtgactgctAttgagaaacaaagagaagaa	18	9	10	4	0	0	4	0	2	0	3	0	6	0	4	0	0	3	3	0	0	8	4	rs377100573		TCGA-V1-A9ZR-01A-11D-A41K-08	TCGA-V1-A9ZR-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1161c64b-4a41-4fce-a9d4-73d4f091c044	a78aaabf-765f-422c-80b1-597ef3a0c26d	g.chr14:64520265A>G	ENST00000344113.4	+	48	9846	c.9634A>G	c.(9634-9636)Att>Gtt	p.I3212V	SYNE2_ENST00000358025.3_Missense_Mutation_p.I3212V|SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000554584.1_Missense_Mutation_p.I3245V	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	3212					centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		TGTGACTGCTATTGAGAAACA	0.358																																						ENST00000358025.3																			0				NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224						c.(9634-9636)Att>Gtt		spectrin repeat containing, nuclear envelope 2							85	82	83					14																	64520265		1908	4120	6028	SO:0001583	missense	23224				centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding	g.chr14:64520265A>G	AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"nuclear envelope spectrin repeat-2", "nucleus and actin connecting element"	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.9634A>G	14.37:g.64520265A>G	ENSP00000341781:p.Ile3212Val					SYNE2_ENST00000554584.1_Missense_Mutation_p.I3245V|SYNE2_ENST00000344113.4_Missense_Mutation_p.I3212V|SYNE2_ENST00000357395.3_5'UTR	p.I3212V	NM_182914.2	NP_878918.2	Q8WXH0	SYNE2_HUMAN		all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)	48	9864	+			3212					Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Missense_Mutation	SNP	ENST00000344113.4	37	c.9634A>G	CCDS41963.1	.	.	.	.	.	.	.	.	.	.	A	8.411	0.844127	0.16963	.	.	ENSG00000054654	ENST00000358025;ENST00000344113;ENST00000554584;ENST00000261678	T;T;T	0.32753	1.44;1.44;1.44	5.52	-7.43	0.01383	.	1.203900	0.06163	N	0.676224	T	0.13457	0.0326	N	0.19112	0.55	0.09310	N	0.999998	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.20306	-1.0279	10	0.24483	T	0.36	.	2.5291	0.04698	0.2959:0.3446:0.2571:0.1025	.	3212;3212	Q8WXH0;Q8WXH0-2	SYNE2_HUMAN;.	V	3212;3212;3245;3245	ENSP00000350719:I3212V;ENSP00000341781:I3212V;ENSP00000452570:I3245V	ENSP00000261678:I3245V	I	+	1	0	SYNE2	63590018	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.501000	0.06398	-1.422000	0.02004	-0.376000	0.06991	ATT		0.358	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276994.2	NM_182914		13	41	0	0	0	1	0	13	41					G	64520265	A	G	64520265	3	3	398	1	0	0	0	0	1	0	0	0	15443	449	16	4	9820	4	SYNE2	14	64520265	Missense_Mutation	SNP	A	TCGA-V1-A9ZR-01A-11D-A41K-08	24922783	64520265	42829275	29	19455											
FBN1	2200	broad.mit.edu	37	chr15	48791237	48791237	+	Splice_Site	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagagtgcctgatattccgcTgcaataaattaacagatagt	14	11	8	8	1	0	3	0	1	0	2	1	3	1	3	2	0	3	2	2	0	6	5			TCGA-V1-A9ZR-01A-11D-A41K-08	TCGA-V1-A9ZR-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1161c64b-4a41-4fce-a9d4-73d4f091c044	a78aaabf-765f-422c-80b1-597ef3a0c26d	g.chr15:48791237T>A	ENST00000316623.5	-	18	2569		c.e18-2			NM_000138.4	NP_000129	P35555	FBN1_HUMAN	fibrillin 1						extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|kidney development (GO:0001822)|sequestering of BMP in extracellular matrix (GO:0035582)|sequestering of TGFbeta in extracellular matrix (GO:0035583)|skeletal system development (GO:0001501)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		GATATTCCGCTGCAATAAATT	0.448																																						ENST00000316623.5																			0				NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139	GRCh37	CS077353	FBN1	S		c.e18-2		fibrillin 1							130	124	126					15																	48791237		2197	4296	6493	SO:0001630	splice_region_variant	2200				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding	g.chr15:48791237T>A	X63556	CCDS32232.1	15q21.1	2014-09-17	2006-04-25			ENSG00000166147			3603	protein-coding gene	gene with protein product	"Marfan syndrome"	134797	"fibrillin 1 (Marfan syndrome)"	FBN, MFS1, WMS		10036187, 12525539	Standard	NM_000138		Approved	MASS, OCTD, SGS	uc001zwx.2	P35555		ENST00000316623.5:c.2114-2A>T	15.37:g.48791237T>A								NM_000138.4	NP_000129.3	P35555	FBN1_HUMAN		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)	18	2569	-		all_lung(180;0.00279)						B2RUU0|D2JYH6|Q15972|Q75N87	Splice_Site	SNP	ENST00000316623.5	37		CCDS32232.1	.	.	.	.	.	.	.	.	.	.	T	24.7	4.555517	0.86231	.	.	ENSG00000166147	ENST00000316623	.	.	.	5.62	5.62	0.85841	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.644	0.68745	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	FBN1	46578529	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.122000	0.71608	2.150000	0.67090	0.533000	0.62120	.		0.448	FBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417355.1		Intron	23	84	0	0	0	1	0	23	84					A	48791237	T	A	48791237	5	1	398	1	0	0	0	0	0	0	1	0	5702	1594	55	5	6699	5	FBN1	15	48791237	Splice_Site	SNP	T	TCGA-V1-A9ZR-01A-11D-A41K-08		48791237	53740155	30	19456											
AQP9	366	broad.mit.edu	37	chr15	58465296	58465296	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcaacccagctgtgtctttaGcaatgtgtctctttggacgg	7	14	10	10	1	3	0	1	0	2	0	4	1	3	1	1	2	3	2	1	2	3	3			TCGA-V1-A9ZR-01A-11D-A41K-08	TCGA-V1-A9ZR-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1161c64b-4a41-4fce-a9d4-73d4f091c044	a78aaabf-765f-422c-80b1-597ef3a0c26d	g.chr15:58465296G>A	ENST00000219919.4	+	3	638	c.268G>A	c.(268-270)Gca>Aca	p.A90T	AQP9_ENST00000536493.1_Missense_Mutation_p.A90T|AQP9_ENST00000558772.1_Missense_Mutation_p.A25T|ALDH1A2_ENST00000558231.1_Intron	NM_020980.3	NP_066190.2	O43315	AQP9_HUMAN	aquaporin 9	90					amine transport (GO:0015837)|canalicular bile acid transport (GO:0015722)|carboxylic acid transport (GO:0046942)|cellular response to cAMP (GO:0071320)|excretion (GO:0007588)|glycerol transport (GO:0015793)|immune response (GO:0006955)|metabolic process (GO:0008152)|polyol transport (GO:0015791)|purine nucleobase transport (GO:0006863)|pyrimidine nucleobase transport (GO:0015855)|pyrimidine-containing compound transmembrane transport (GO:0072531)|response to mercury ion (GO:0046689)|response to organic substance (GO:0010033)|response to osmotic stress (GO:0006970)|transmembrane transport (GO:0055085)|transport (GO:0006810)|water homeostasis (GO:0030104)|water transport (GO:0006833)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	amine transmembrane transporter activity (GO:0005275)|carboxylic acid transmembrane transporter activity (GO:0046943)|glycerol channel activity (GO:0015254)|polyol transmembrane transporter activity (GO:0015166)|porin activity (GO:0015288)|purine nucleobase transmembrane transporter activity (GO:0005345)|pyrimidine nucleobase transmembrane transporter activity (GO:0005350)|water channel activity (GO:0015250)|water transmembrane transporter activity (GO:0005372)			endometrium(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)	21				GBM - Glioblastoma multiforme(80;0.16)		TGTGTCTTTAGCAATGTGTCT	0.478																																						ENST00000219919.4																			0				endometrium(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)	21						c.(268-270)Gca>Aca		aquaporin 9							208	200	202					15																	58465296		2192	4292	6484	SO:0001583	missense	366				cellular response to cAMP|excretion|immune response|metabolic process|response to mercury ion|response to osmotic stress|water homeostasis	integral to plasma membrane|intracellular membrane-bounded organelle	amine transmembrane transporter activity|carboxylic acid transmembrane transporter activity|glycerol channel activity|porin activity|purine base transmembrane transporter activity|pyrimidine base transmembrane transporter activity|water channel activity	g.chr15:58465296G>A	AF016495	CCDS10165.1	15q	2005-09-20			ENSG00000103569	ENSG00000103569		"Ion channels / Aquaporins"	643	protein-coding gene	gene with protein product		602914					Standard	NM_020980		Approved	SSC1, HsT17287	uc002aez.2	O43315	OTTHUMG00000132631	ENST00000219919.4:c.268G>A	15.37:g.58465296G>A	ENSP00000219919:p.Ala90Thr					ALDH1A2_ENST00000558231.1_Intron|AQP9_ENST00000536493.1_Missense_Mutation_p.A90T|AQP9_ENST00000558772.1_Missense_Mutation_p.A25T	p.A90T	NM_020980.3	NP_066190.2	O43315	AQP9_HUMAN		GBM - Glioblastoma multiforme(80;0.16)	3	638	+			90					Q9NP32	Missense_Mutation	SNP	ENST00000219919.4	37	c.268G>A	CCDS10165.1	.	.	.	.	.	.	.	.	.	.	G	13.37	2.217171	0.39201	.	.	ENSG00000103569	ENST00000219919;ENST00000536493	D;D	0.89485	-2.52;-2.52	5.46	4.53	0.55603	Major intrinsic protein, conserved site (1);Aquaporin-like (2);	0.067572	0.64402	D	0.000010	D	0.87589	0.6215	L	0.37697	1.125	0.80722	D	1	P	0.36465	0.554	P	0.45946	0.498	D	0.86116	0.1565	10	0.40728	T	0.16	.	14.7054	0.69186	0.0702:0.0:0.9298:0.0	.	90	O43315	AQP9_HUMAN	T	90	ENSP00000219919:A90T;ENSP00000441390:A90T	ENSP00000219919:A90T	A	+	1	0	AQP9	56252588	1.000000	0.71417	0.977000	0.42913	0.371000	0.29859	6.159000	0.71856	2.840000	0.97914	0.655000	0.94253	GCA		0.478	AQP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255878.2	NM_020980		37	118	0	0	0	1	0	37	118					A	58465296	G	A	58465296	3	1	398	1	0	0	0	0	1	0	0	0	833	971	34	3	278	3	AQP9	15	58465296	Missense_Mutation	SNP	G	TCGA-V1-A9ZR-01A-11D-A41K-08	9674059	58465296	44066096	31	19457											
SLCO3A1	28232	broad.mit.edu	37	chr15	92459376	92459376	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggccgcgcctgatcggctgcGgcggcatcgtcatggcgctg	3	7	17	14	7	1	1	1	1	0	0	3	1	1	1	2	5	1	3	2	5	0	0			TCGA-V1-A9ZR-01A-11D-A41K-08	TCGA-V1-A9ZR-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1161c64b-4a41-4fce-a9d4-73d4f091c044	a78aaabf-765f-422c-80b1-597ef3a0c26d	g.chr15:92459376G>A	ENST00000318445.6	+	2	548	c.334G>A	c.(334-336)Ggc>Agc	p.G112S	SLCO3A1_ENST00000424469.2_Missense_Mutation_p.G112S	NM_013272.3	NP_037404.2	Q9UIG8	SO3A1_HUMAN	solute carrier organic anion transporter family, member 3A1	112					sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2)	25	Lung NSC(78;0.0158)|all_lung(78;0.0255)		BRCA - Breast invasive adenocarcinoma(143;0.0841)		Alprostadil(DB00770)|Aminohippurate(DB00345)|Benzylpenicillin(DB01053)|Conjugated Estrogens(DB00286)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Iloprost(DB01088)|Methotrexate(DB00563)	GATCGGCTGCGGCGGCATCGT	0.692																																						ENST00000318445.6																			0				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2)	25						c.(334-336)Ggc>Agc		solute carrier organic anion transporter family, member 3A1							17	15	16					15																	92459376		2119	4135	6254	SO:0001583	missense	28232				sodium-independent organic anion transport	integral to membrane|plasma membrane	sodium-independent organic anion transmembrane transporter activity	g.chr15:92459376G>A	AB031050	CCDS10371.1, CCDS45354.1	15q26	2013-05-22	2003-11-25	2003-11-26	ENSG00000176463	ENSG00000176463		"Solute carriers"	10952	protein-coding gene	gene with protein product		612435	"solute carrier family 21 (organic anion transporter), member 11"	SLC21A11			Standard	NM_001145044		Approved	OATP-D, OATP3A1	uc002bqx.2	Q9UIG8	OTTHUMG00000149846	ENST00000318445.6:c.334G>A	15.37:g.92459376G>A	ENSP00000320634:p.Gly112Ser					SLCO3A1_ENST00000424469.2_Missense_Mutation_p.G112S	p.G112S	NM_013272.3	NP_037404.2	Q9UIG8	SO3A1_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0841)		2	548	+	Lung NSC(78;0.0158)|all_lung(78;0.0255)		112					A8K4A7|B3KPY5|B3KUR7|C6G486|Q9BW73|Q9GZV2	Missense_Mutation	SNP	ENST00000318445.6	37	c.334G>A	CCDS10371.1	.	.	.	.	.	.	.	.	.	.	G	36	5.769967	0.96914	.	.	ENSG00000176463	ENST00000318445;ENST00000424469;ENST00000553304	T;T;T	0.80909	-1.43;-1.43;-1.43	5.22	5.22	0.72569	Major facilitator superfamily domain, general substrate transporter (1);	0.050808	0.85682	D	0.000000	D	0.90518	0.7029	M	0.83118	2.625	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;1.0	D	0.91334	0.5092	10	0.62326	D	0.03	.	18.1361	0.89619	0.0:0.0:1.0:0.0	.	54;112;112	Q9UIG8-3;Q9UIG8-2;Q9UIG8	.;.;SO3A1_HUMAN	S	112;112;54	ENSP00000320634:G112S;ENSP00000387846:G112S;ENSP00000450559:G54S	ENSP00000320634:G112S	G	+	1	0	SLCO3A1	90260380	1.000000	0.71417	0.993000	0.49108	0.952000	0.60782	9.350000	0.97070	2.612000	0.88384	0.655000	0.94253	GGC		0.692	SLCO3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313529.1	NM_013272		3	28	0	0	0	1	0	3	28					A	92459376	G	A	92459376	3	1	398	1	0	0	0	0	1	0	0	0	14728	1116	39	2	340	2	SLCO3A1	15	92459376	Missense_Mutation	SNP	G	TCGA-V1-A9ZR-01A-11D-A41K-08	33994080	92459376	10072016	32	19458											
ZNF205	7755	broad.mit.edu	37	chr16	3170290	3170290	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atgctgggggcggcggcggcGggggctctggccacaccccc	3	4	19	15	4	1	0	0	0	1	0	1	0	1	0	3	8	1	2	3	8	0	0			TCGA-V1-A9ZR-01A-11D-A41K-08	TCGA-V1-A9ZR-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1161c64b-4a41-4fce-a9d4-73d4f091c044	a78aaabf-765f-422c-80b1-597ef3a0c26d	g.chr16:3170290G>A	ENST00000382192.3	+	7	1834	c.1629G>A	c.(1627-1629)gcG>gcA	p.A543A	RP11-473M20.14_ENST00000576490.1_RNA|RP11-473M20.14_ENST00000575139.1_RNA|ZNF205_ENST00000219091.4_Silent_p.A543A	NM_001278158.1|NM_003456.2	NP_001265087.1|NP_003447.2	O95201	ZN205_HUMAN	zinc finger protein 205	543					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of hydrogen peroxide biosynthetic process (GO:0010729)|positive regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway (GO:1901030)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	20						cggcggcggcgggggcTCTGG	0.716																																						ENST00000382192.3																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	20						c.(1627-1629)gcG>gcA		zinc finger protein 205							5	6	6					16																	3170290		1856	3741	5597	SO:0001819	synonymous_variant	7755				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr16:3170290G>A	AF060865	CCDS10494.2	16p13.3	2013-01-08			ENSG00000122386	ENSG00000122386		"Zinc fingers, C2H2-type", "-"	12996	protein-coding gene	gene with protein product		603436		ZNF210		9787081	Standard	NM_003456		Approved	Zfp13	uc002cub.3	O95201	OTTHUMG00000148676	ENST00000382192.3:c.1629G>A	16.37:g.3170290G>A						RP11-473M20.14_ENST00000576490.1_RNA|RP11-473M20.14_ENST00000575139.1_RNA|ZNF205_ENST00000219091.4_Silent_p.A543A	p.A543A	NM_001278158.1|NM_003456.2	NP_001265087.1|NP_003447.2	O95201	ZN205_HUMAN			7	1834	+			543					A8MZK0|D3DUB4|Q9BU95	Silent	SNP	ENST00000382192.3	37	c.1629G>A	CCDS10494.2																																																																																				0.716	ZNF205-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309057.1	NM_003456		6	15	0	0	0	1	0	6	15					A	3170290	G	A	3170290	2	1	398	1	0	0	0	0	0	0	0	1	17761	1103	39	2		2	ZNF205	16	3170290	Silent	SNP	G	TCGA-V1-A9ZR-01A-11D-A41K-08		3170290	87184463	33	19459											
OTOA	146183	broad.mit.edu	37	chr16	21737849	21737849	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cccatctctctccagggcccGctacctggcttctgtcccag	4	10	8	19	1	3	0	0	0	3	0	6	0	4	0	5	2	1	2	5	2	1	2			TCGA-V1-A9ZR-01A-11D-A41K-08	TCGA-V1-A9ZR-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1161c64b-4a41-4fce-a9d4-73d4f091c044	a78aaabf-765f-422c-80b1-597ef3a0c26d	g.chr16:21737849G>A	ENST00000286149.4	+	18	1929	c.1928G>A	c.(1927-1929)cGc>cAc	p.R643H	OTOA_ENST00000388958.3_Missense_Mutation_p.R629H|OTOA_ENST00000388956.4_Missense_Mutation_p.R550H|OTOA_ENST00000388957.3_Missense_Mutation_p.R305H			Q7RTW8	OTOAN_HUMAN	otoancorin	643					cell-matrix adhesion (GO:0007160)|sensory perception of sound (GO:0007605)|transmission of nerve impulse (GO:0019226)	anchored component of membrane (GO:0031225)|apical plasma membrane (GO:0016324)|proteinaceous extracellular matrix (GO:0005578)		p.R629L(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)	46				GBM - Glioblastoma multiforme(48;0.0414)		TCCAGGGCCCGCTACCTGGCT	0.562																																						ENST00000388958.3																			1	Substitution - Missense(1)	p.R629L(1)	lung(1)	breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)	46						c.(1885-1887)cGc>cAc		otoancorin							101	104	103					16																	21737849		2198	4300	6498	SO:0001583	missense	146183				sensory perception of sound	anchored to membrane|apical plasma membrane|proteinaceous extracellular matrix		g.chr16:21737849G>A	AK057335	CCDS10600.2, CCDS32403.1, CCDS53994.1	16p12.2	2009-08-18	2002-07-05		ENSG00000155719	ENSG00000155719			16378	protein-coding gene	gene with protein product	"cancer/testis antigen 108"	607038	"deafness, autosomal recessive 22"	DFNB22		11972037, 19088187	Standard	NM_170664		Approved	CT108	uc002djh.3	Q7RTW8	OTTHUMG00000090721	ENST00000286149.4:c.1928G>A	16.37:g.21737849G>A	ENSP00000286149:p.Arg643His					OTOA_ENST00000388957.3_Missense_Mutation_p.R305H|OTOA_ENST00000388956.4_Missense_Mutation_p.R550H|OTOA_ENST00000286149.4_Missense_Mutation_p.R643H	p.R629H	NM_144672.3	NP_653273.3	Q7RTW8	OTOAN_HUMAN		GBM - Glioblastoma multiforme(48;0.0414)	18	1887	+			643					A1L3A8|A2VDI0|B3KWU3|E9PF51|Q8NA86|Q96M76	Missense_Mutation	SNP	ENST00000286149.4	37	c.1886G>A		.	.	.	.	.	.	.	.	.	.	g	6.205	0.405986	0.11754	.	.	ENSG00000155719	ENST00000388958;ENST00000286149;ENST00000388956;ENST00000388957;ENST00000338456	T;T;T;T	0.79454	-1.27;-1.27;-1.27;-1.27	5.06	-3.33	0.04958	.	0.780907	0.11602	N	0.547630	T	0.59473	0.2196	N	0.17474	0.49	0.22489	N	0.999056	B;B;B;B	0.19445	0.016;0.007;0.036;0.009	B;B;B;B	0.11329	0.006;0.004;0.004;0.006	T	0.39840	-0.9594	10	0.41790	T	0.15	-0.8603	11.5984	0.50988	0.6035:0.0:0.3965:0.0	.	643;550;305;629	Q7RTW8;B3KWU3;Q7RTW8-2;E9PF51	OTOAN_HUMAN;.;.;.	H	629;643;550;305;38	ENSP00000373610:R629H;ENSP00000286149:R643H;ENSP00000373608:R550H;ENSP00000373609:R305H	ENSP00000286149:R643H	R	+	2	0	OTOA	21645350	0.933000	0.31639	0.451000	0.26982	0.110000	0.19582	0.290000	0.18975	-0.857000	0.04115	-3.256000	0.00050	CGC		0.562	OTOA-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000430021.1			21	81	0	0	0	1	0	21	81					A	21737849	G	A	21737849	3	1	398	1	0	0	0	0	1	0	0	0	11302	1087	38	1	2002	1	OTOA	16	21737849	Missense_Mutation	SNP	G	TCGA-V1-A9ZR-01A-11D-A41K-08	18567559	21737849	68616904	34	19460											
TANC2	26115	broad.mit.edu	37	chr17	61417574	61417574	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acctcagctgacagcctatcGggagcagcttcttcgggaac	9	8	11	13	2	2	1	1	1	1	0	4	3	2	3	2	2	5	3	2	2	2	3			TCGA-V1-A9ZR-01A-11D-A41K-08	TCGA-V1-A9ZR-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1161c64b-4a41-4fce-a9d4-73d4f091c044	a78aaabf-765f-422c-80b1-597ef3a0c26d	g.chr17:61417574G>A	ENST00000424789.2	+	10	1470	c.1466G>A	c.(1465-1467)cGg>cAg	p.R489Q	TANC2_ENST00000389520.4_Missense_Mutation_p.R489Q|AC037445.1_ENST00000581421.1_RNA	NM_025185.3	NP_079461.2	Q9HCD6	TANC2_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2	489					in utero embryonic development (GO:0001701)					breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|upper_aerodigestive_tract(3)	44						ACAGCCTATCGGGAGCAGCTT	0.552																																						ENST00000424789.2																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|upper_aerodigestive_tract(3)	44						c.(1465-1467)cGg>cAg		tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2							84	81	82					17																	61417574		2035	4214	6249	SO:0001583	missense	26115						binding	g.chr17:61417574G>A	AB032974	CCDS45754.1	17q23.3	2013-01-11				ENSG00000170921		"Ankyrin repeat domain containing", "Tetratricopeptide (TTC) repeat domain containing"	30212	protein-coding gene	gene with protein product	"rolling pebbles homolog B (Drosophila)"	615047					Standard	NM_025185		Approved	DKFZP564D166, FLJ10215, FLJ11824, KIAA1148, KIAA1636, rols, ROLSA	uc002jal.4	Q9HCD6		ENST00000424789.2:c.1466G>A	17.37:g.61417574G>A	ENSP00000387593:p.Arg489Gln					TANC2_ENST00000389520.4_Missense_Mutation_p.R489Q	p.R489Q	NM_025185.3	NP_079461.2	Q9HCD6	TANC2_HUMAN			10	1470	+			489					Q9HAC3|Q9NW88|Q9NXY9|Q9ULS2	Missense_Mutation	SNP	ENST00000424789.2	37	c.1466G>A	CCDS45754.1	.	.	.	.	.	.	.	.	.	.	G	36	5.665614	0.96745	.	.	ENSG00000170921	ENST00000389520;ENST00000424789	T;T	0.68624	-0.34;-0.34	5.23	5.23	0.72850	.	0.056499	0.64402	D	0.000002	T	0.77705	0.4170	L	0.58302	1.8	0.58432	D	0.999998	D;D	0.67145	0.962;0.996	P;P	0.60236	0.468;0.871	T	0.79332	-0.1847	10	0.59425	D	0.04	.	18.7868	0.91959	0.0:0.0:1.0:0.0	.	489;489	Q9HCD6-2;Q9HCD6	.;TANC2_HUMAN	Q	489	ENSP00000374171:R489Q;ENSP00000387593:R489Q	ENSP00000374171:R489Q	R	+	2	0	TANC2	58771306	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	8.012000	0.88631	2.431000	0.82371	0.563000	0.77884	CGG		0.552	TANC2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444765.1			22	51	0	0	0	1	0	22	51					A	61417574	G	A	61417574	3	1	398	1	0	0	0	0	1	0	0	0	15542	1116	39	2	1504	2	TANC2	17	61417574	Missense_Mutation	SNP	G	TCGA-V1-A9ZR-01A-11D-A41K-08		61417574	19777636	35	19461											
CARD14	79092	broad.mit.edu	37	chr17	78178942	78178942	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtgctcctcgtgcccagggCggttgggaagatcctgagcg	5	9	16	11	3	0	2	0	1	0	1	3	3	2	3	3	3	3	2	3	3	1	1	rs368705564		TCGA-V1-A9ZR-01A-11D-A41K-08	TCGA-V1-A9ZR-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1161c64b-4a41-4fce-a9d4-73d4f091c044	a78aaabf-765f-422c-80b1-597ef3a0c26d	g.chr17:78178942C>T	ENST00000573882.1	+	20	3043	c.2507C>T	c.(2506-2508)gCg>gTg	p.A836V	RP11-334C17.5_ENST00000572730.1_RNA|CARD14_ENST00000344227.2_Missense_Mutation_p.A836V|RP11-334C17.5_ENST00000576824.1_RNA|RP11-334C17.5_ENST00000573346.1_RNA|RP11-334C17.5_ENST00000570309.1_RNA|RP11-334C17.5_ENST00000573935.1_RNA			Q9BXL6	CAR14_HUMAN	caspase recruitment domain family, member 14	836	Guanylate kinase-like. {ECO:0000255|PROSITE-ProRule:PRU00100}.				activation of NF-kappaB-inducing kinase activity (GO:0007250)|apoptotic process (GO:0006915)|negative regulation of apoptotic process (GO:0043066)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein phosphorylation (GO:0001934)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	CARD domain binding (GO:0050700)			NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(5)|prostate(1)|skin(1)	23	all_neural(118;0.0952)		OV - Ovarian serous cystadenocarcinoma(97;0.017)|BRCA - Breast invasive adenocarcinoma(99;0.0908)			GTGCCCAGGGCGGTTGGGAAG	0.647																																						ENST00000573882.1																			0				NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(5)|prostate(1)|skin(1)	23						c.(2506-2508)gCg>gTg		caspase recruitment domain family, member 14		C	VAL/ALA	1,4405	2.1+/-5.4	0,1,2202	80	77	78		2507	3	0	17		78	0,8600		0,0,4300	no	missense	CARD14	NM_024110.3	64	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign	836/1005	78178942	1,13005	2203	4300	6503	SO:0001583	missense	79092				activation of NF-kappaB-inducing kinase activity|positive regulation of protein phosphorylation|regulation of apoptosis	aggresome|cytoplasm|plasma membrane	CARD domain binding	g.chr17:78178942C>T	AF322642	CCDS11768.1, CCDS58605.1	17q25.3	2014-09-04			ENSG00000141527	ENSG00000141527			16446	protein-coding gene	gene with protein product		607211	"psoriasis susceptibility 2"	PSORS2		11278692, 11356195, 22521418	Standard	NM_052819		Approved	CARMA2, BIMP2	uc031res.1	Q9BXL6	OTTHUMG00000177549	ENST00000573882.1:c.2507C>T	17.37:g.78178942C>T	ENSP00000458715:p.Ala836Val					RP11-334C17.5_ENST00000576824.1_RNA|RP11-334C17.5_ENST00000573346.1_RNA|CARD14_ENST00000344227.2_Missense_Mutation_p.A836V	p.A836V			Q9BXL6	CAR14_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.017)|BRCA - Breast invasive adenocarcinoma(99;0.0908)		20	3043	+	all_neural(118;0.0952)		836			Guanylate kinase-like.		B8QQJ3|Q9BVB5	Missense_Mutation	SNP	ENST00000573882.1	37	c.2507C>T	CCDS11768.1	.	.	.	.	.	.	.	.	.	.	C	1.516	-0.548088	0.04024	2.27E-4	0.0	ENSG00000141527	ENST00000344227	T	0.04654	3.58	4.13	3.04	0.35103	Guanylate kinase/L-type calcium channel (1);	0.700731	0.13622	N	0.374359	T	0.01124	0.0037	N	0.00246	-1.78	0.24861	N	0.992344	B	0.02656	0.0	B	0.01281	0.0	T	0.44329	-0.9335	10	0.02654	T	1	-5.183	7.8682	0.29549	0.0:0.1052:0.0:0.8948	.	836	Q9BXL6	CAR14_HUMAN	V	836	ENSP00000344549:A836V	ENSP00000344549:A836V	A	+	2	0	CARD14	75793537	0.914000	0.31030	0.002000	0.10522	0.874000	0.50279	3.612000	0.54142	0.456000	0.26937	-0.573000	0.04149	GCG		0.647	CARD14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437507.1			8	31	0	0	0	1	0	8	31					T	78178942	C	T	78178942	3	4	398	1	0	0	0	0	1	0	0	0	2646	768	27	1	2738	1	CARD14	17	78178942	Missense_Mutation	SNP	C	TCGA-V1-A9ZR-01A-11D-A41K-08	16761368	78178942	3016268	36	19462											
KATNAL2	83473	broad.mit.edu	37	chr18	44579365	44579365	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atggaatatgagagttattaTtttgtaaaatttcagaaata	17	16	7	1	0	1	2	1	1	0	2	1	4	1	3	0	1	0	2	0	1	8	8			TCGA-V1-A9ZR-01A-11D-A41K-08	TCGA-V1-A9ZR-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1161c64b-4a41-4fce-a9d4-73d4f091c044	a78aaabf-765f-422c-80b1-597ef3a0c26d	g.chr18:44579365T>C	ENST00000245121.5	+	2	215	c.21T>C	c.(19-21)taT>taC	p.Y7Y	KATNAL2_ENST00000356157.7_Silent_p.Y79Y|KATNAL2_ENST00000592005.1_Intron	NM_031303.2	NP_112593.2			katanin p60 subunit A-like 2											central_nervous_system(2)|endometrium(3)|large_intestine(8)|lung(8)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(2)	27						AGAGTTATTATTTTGTAAAAT	0.338																																						ENST00000245121.5																			0				central_nervous_system(2)|endometrium(3)|large_intestine(8)|lung(8)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(2)	27						c.(19-21)taT>taC		katanin p60 subunit A-like 2							108	114	112					18																	44579365		2202	4300	6502	SO:0001819	synonymous_variant	83473					cytoplasm|microtubule	ATP binding|microtubule-severing ATPase activity	g.chr18:44579365T>C	BC034999	CCDS32828.1	18q21.1	2010-04-21			ENSG00000167216	ENSG00000167216		"ATPases / AAA-type"	25387	protein-coding gene	gene with protein product		614697				12477932	Standard	NM_031303		Approved	MGC33211, DKFZP667C165	uc002lco.3	Q8IYT4		ENST00000245121.5:c.21T>C	18.37:g.44579365T>C						KATNAL2_ENST00000592005.1_Intron|KATNAL2_ENST00000356157.7_Silent_p.Y79Y	p.Y7Y	NM_031303.2	NP_112593.2	Q8IYT4	KATL2_HUMAN			2	215	+			79						Silent	SNP	ENST00000245121.5	37	c.21T>C	CCDS32828.1																																																																																				0.338	KATNAL2-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446138.2	NM_031303		35	121	0	0	0	1	0	35	121					C	44579365	T	C	44579365	2	2	398	1	0	0	0	0	0	0	0	1	7986	1500	52	4		4	KATNAL2	18	44579365	Silent	SNP	T	TCGA-V1-A9ZR-01A-11D-A41K-08		44579365	33497883	37	19463											
RYR1	6261	broad.mit.edu	37	chr19	38956916	38956916	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cccagcgcgccgaaaccctcGgctggtgccctaccgcctgc	5	5	11	20	5	0	0	0	0	0	0	1	1	0	0	6	2	5	1	6	2	2	1			TCGA-V1-A9ZR-01A-11D-A41K-08	TCGA-V1-A9ZR-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1161c64b-4a41-4fce-a9d4-73d4f091c044	a78aaabf-765f-422c-80b1-597ef3a0c26d	g.chr19:38956916G>A	ENST00000359596.3	+	24	3056	c.3056G>A	c.(3055-3057)cGg>cAg	p.R1019Q	RYR1_ENST00000355481.4_Missense_Mutation_p.R1019Q|RYR1_ENST00000360985.3_Missense_Mutation_p.R1019Q			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	1019	6 X approximate repeats.|B30.2/SPRY 2. {ECO:0000255|PROSITE- ProRule:PRU00548}.				calcium ion transport (GO:0006816)|cellular response to caffeine (GO:0071313)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|ossification involved in bone maturation (GO:0043931)|outflow tract morphogenesis (GO:0003151)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|skeletal muscle fiber development (GO:0048741)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|integral component of plasma membrane (GO:0005887)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|voltage-gated calcium channel activity (GO:0005245)			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	CGAAACCCTCGGCTGGTGCCC	0.672																																						ENST00000355481.4																			0				NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285						c.(3055-3057)cGg>cAg		ryanodine receptor 1 (skeletal)	Dantrolene(DB01219)						39	37	38					19																	38956916		2199	4298	6497	SO:0001583	missense	6261				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr19:38956916G>A	J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"Ion channels / Ryanodine receptors"	10483	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 137"	180901	"central core disease of muscle"	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.3056G>A	19.37:g.38956916G>A	ENSP00000352608:p.Arg1019Gln					RYR1_ENST00000360985.3_Missense_Mutation_p.R1019Q|RYR1_ENST00000359596.3_Missense_Mutation_p.R1019Q	p.R1019Q	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		24	3187	+	all_cancers(60;7.91e-06)		1019			6 X approximate repeats.|B30.2/SPRY 2.		Q16314|Q16368|Q9NPK1|Q9P1U4	Missense_Mutation	SNP	ENST00000359596.3	37	c.3056G>A	CCDS33011.1	.	.	.	.	.	.	.	.	.	.	g	15.28	2.785996	0.49997	.	.	ENSG00000196218	ENST00000359596;ENST00000355481;ENST00000360985	D;D;D	0.91295	-2.82;-2.82;-2.82	3.5	3.5	0.40072	B30.2/SPRY domain (1);Ryanodine receptor Ryr (1);	0.000000	0.64402	U	0.000002	D	0.93976	0.8071	M	0.75085	2.285	0.53005	D	0.999962	D;D	0.89917	1.0;0.994	D;P	0.66979	0.948;0.863	D	0.93015	0.6435	10	0.31617	T	0.26	.	15.24	0.73461	0.0:0.0:1.0:0.0	.	1019;1019	P21817-2;P21817	.;RYR1_HUMAN	Q	1019	ENSP00000352608:R1019Q;ENSP00000347667:R1019Q;ENSP00000354254:R1019Q	ENSP00000347667:R1019Q	R	+	2	0	RYR1	43648756	1.000000	0.71417	0.936000	0.37596	0.231000	0.25187	9.437000	0.97535	1.988000	0.58038	0.444000	0.29173	CGG		0.672	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1			3	15	0	0	0	1	0	3	15					A	38956916	G	A	38956916	3	1	398	1	0	0	0	0	1	0	0	0	13768	1116	39	2	3150	2	RYR1	19	38956916	Missense_Mutation	SNP	G	TCGA-V1-A9ZR-01A-11D-A41K-08		38956916	20172067	38	19464											
ERF	2077	broad.mit.edu	37	chr19	42754061	42754061	+	Frame_Shift_Del	DEL	G	G	-																															taggtgaaccgtttccccttGgtcttgtgcagaatgcgctt																										TCGA-V1-A9ZR-01A-11D-A41K-08	TCGA-V1-A9ZR-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1161c64b-4a41-4fce-a9d4-73d4f091c044	a78aaabf-765f-422c-80b1-597ef3a0c26d	g.chr19:42754061delG	ENST00000222329.4	-	3	448	c.291delC	c.(289-291)accfs	p.T97fs	ERF_ENST00000595941.1_5'Flank|AC006486.9_ENST00000594664.1_Intron|ERF_ENST00000440177.2_Frame_Shift_Del_p.T22fs	NM_006494.2	NP_006485.2	P50548	ERF_HUMAN	Ets2 repressor factor	97					cell cycle (GO:0007049)|cell differentiation (GO:0030154)|chorio-allantoic fusion (GO:0060710)|ectodermal cell differentiation (GO:0010668)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)|trophoblast giant cell differentiation (GO:0060707)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|transcription corepressor activity (GO:0003714)			central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(7)|skin(1)	17		Prostate(69;0.00682)				GTTTCCCCTTGGTCTTGTGCA	0.483																																						ENST00000222329.4																			0				central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(7)|skin(1)	17						c.(289-291)acfs		Ets2 repressor factor							334	292	306					19																	42754061		2203	4300	6503	SO:0001589	frameshift_variant	2077				cell proliferation|regulation of transcription from RNA polymerase II promoter	nucleus	ligand-regulated transcription factor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr19:42754061delG	U58535	CCDS12600.1	19q13	2008-07-16				ENSG00000105722			3444	protein-coding gene	gene with protein product	"Ets2 repressor factor"	611888				7588608, 9192842	Standard	XM_005258644		Approved	PE-2, PE2	uc002ote.4	P50548		ENST00000222329.4:c.291delC	19.37:g.42754061delG	ENSP00000222329:p.Thr97fs					ERF_ENST00000440177.2_Frame_Shift_Del_p.T22fs|AC006486.9_ENST00000594664.1_Intron	p.T97fs	NM_006494.2	NP_006485.2	P50548	ERF_HUMAN			3	448	-		Prostate(69;0.00682)	97					B2RAP1|B7Z4R0|Q59G38|Q9UPI7	Frame_Shift_Del	DEL	ENST00000222329.4	37	c.291delC	CCDS12600.1																																																																																				0.483	ERF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463684.1	NM_006494		34	108						34	108	---	---	---	---	-	42754061	G	-	42754061	7	5	398	1	0	1	0	1	0	0	0	0	5221	1335	47	0	1363	0	ERF	19	42754061	Frame_Shift_Del	DEL	G	TCGA-V1-A9ZR-01A-11D-A41K-08	3797145	42754061	16374922	39	19465											
BPIL1	80341	broad.mit.edu	37	chr20	31607482	31607482	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acacaaacaacgccaccctgCggctgcagcccttcgtggag	10	5	10	16	3	0	0	0	0	0	0	1	1	0	1	3	2	5	2	3	2	2	1	rs144321606	byFrequency	TCGA-V1-A9ZR-01A-11D-A41K-08	TCGA-V1-A9ZR-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1161c64b-4a41-4fce-a9d4-73d4f091c044	a78aaabf-765f-422c-80b1-597ef3a0c26d	g.chr20:31607482C>T	ENST00000170150.3	+	11	1201	c.1006C>T	c.(1006-1008)Cgg>Tgg	p.R336W		NM_025227.1	NP_079503.1	Q8N4F0	BPIB2_HUMAN	BPI fold containing family B, member 2	336						extracellular vesicular exosome (GO:0070062)	lipid binding (GO:0008289)										CGCCACCCTGCGGCTGCAGCC	0.657																																						ENST00000170150.3																			0											c.(1006-1008)Cgg>Tgg		BPI fold containing family B, member 2							43	41	42					20																	31607482		2203	4300	6503	SO:0001583	missense	80341					extracellular region	lipid binding	g.chr20:31607482C>T	AF465765	CCDS13210.1	20q11.21	2011-08-04	2011-07-29	2011-07-29	ENSG00000078898	ENSG00000078898		"BPI fold containing"	16177	protein-coding gene	gene with protein product		614108	"bactericidal/permeability-increasing protein-like 1"	C20orf184, BPIL1		12185532, 21787333	Standard	NM_025227		Approved	dJ726C3.2, LPLUNC2	uc002wyj.4	Q8N4F0	OTTHUMG00000032232	ENST00000170150.3:c.1006C>T	20.37:g.31607482C>T	ENSP00000170150:p.Arg336Trp						p.R336W	NM_025227.1	NP_079503.1	Q8N4F0	BPIL1_HUMAN			11	1201	+			336					Q6UWN3|Q6ZME0|Q8NFQ7	Missense_Mutation	SNP	ENST00000170150.3	37	c.1006C>T	CCDS13210.1	.	.	.	.	.	.	.	.	.	.	C	7.345	0.621700	0.14193	.	.	ENSG00000078898	ENST00000170150	T	0.07021	3.23	4.97	0.471	0.16752	.	1.343280	0.04904	N	0.451930	T	0.05135	0.0137	N	0.08118	0	0.09310	N	1	B	0.13145	0.007	B	0.08055	0.003	T	0.41052	-0.9530	10	0.59425	D	0.04	-0.0145	6.5945	0.22666	0.4288:0.4827:0.0:0.0885	.	336	Q8N4F0	BPIB2_HUMAN	W	336	ENSP00000170150:R336W	ENSP00000170150:R336W	R	+	1	2	BPIFB2	31071143	0.000000	0.05858	0.001000	0.08648	0.275000	0.26752	-0.185000	0.09684	0.166000	0.19597	0.555000	0.69702	CGG		0.657	BPIFB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078652.2	NM_025227		6	8	0	0	0	1	0	6	8					T	31607482	C	T	31607482	3	4	398	1	0	0	0	0	1	0	0	0	1491	759	27	1	1044	1	BPIL1	20	31607482	Missense_Mutation	SNP	C	TCGA-V1-A9ZR-01A-11D-A41K-08		31607482	31418038	40	19466											
ARFGAP3	26286	broad.mit.edu	37	chr22	43204771	43204771	+	Splice_Site	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aagaaactctctggacccttAcatcagcctgggattgtctt	10	12	8	11	0	3	1	1	0	2	1	4	3	3	3	2	2	3	0	2	2	3	3			TCGA-V1-A9ZR-01A-11D-A41K-08	TCGA-V1-A9ZR-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1161c64b-4a41-4fce-a9d4-73d4f091c044	a78aaabf-765f-422c-80b1-597ef3a0c26d	g.chr22:43204771A>T	ENST00000263245.5	-	13	1540		c.e13+1		ARFGAP3_ENST00000429508.2_Splice_Site|ARFGAP3_ENST00000437119.2_Splice_Site	NM_001142293.1|NM_014570.4	NP_001135765.1|NP_055385.3	Q9NP61	ARFG3_HUMAN	ADP-ribosylation factor GTPase activating protein 3						intracellular protein transport (GO:0006886)|positive regulation of GTPase activity (GO:0043547)|protein secretion (GO:0009306)|regulation of ARF GTPase activity (GO:0032312)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	ARF GTPase activator activity (GO:0008060)|protein transporter activity (GO:0008565)|zinc ion binding (GO:0008270)			breast(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)	11						CTGGACCCTTACATCAGCCTG	0.493																																					GBM(58;544 1030 21460 27159 48838)	ENST00000263245.5																			0				breast(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)	11						c.e13+1		ADP-ribosylation factor GTPase activating protein 3							143	132	136					22																	43204771		2203	4300	6503	SO:0001630	splice_region_variant	26286				intracellular protein transport|protein secretion|regulation of ARF GTPase activity|vesicle-mediated transport	cytosol|Golgi membrane	ARF GTPase activator activity|protein transporter activity|zinc ion binding	g.chr22:43204771A>T	AK002083	CCDS14042.1, CCDS46722.1	22q13.2	2009-11-30	2002-08-20	2002-08-23	ENSG00000242247	ENSG00000242247		"ADP-ribosylation factor GTPase activating proteins"	661	protein-coding gene	gene with protein product		612439	"ADP-ribosylation factor GTPase activating protein 1"	ARFGAP1		10704287, 11172815	Standard	NM_014570		Approved		uc003bdd.2	Q9NP61	OTTHUMG00000150718	ENST00000263245.5:c.1320+1T>A	22.37:g.43204771A>T						ARFGAP3_ENST00000437119.2_Splice_Site|ARFGAP3_ENST00000429508.2_Splice_Site		NM_001142293.1|NM_014570.4	NP_001135765.1|NP_055385.3	Q9NP61	ARFG3_HUMAN			13	1540	-								E9PB03|Q9BSC6|Q9H9J0|Q9NT10|Q9NUP5|Q9Y4V3|Q9Y4V4	Splice_Site	SNP	ENST00000263245.5	37		CCDS14042.1	.	.	.	.	.	.	.	.	.	.	A	22.3	4.267093	0.80469	.	.	ENSG00000242247	ENST00000263245;ENST00000429508;ENST00000437119;ENST00000453516	.	.	.	4.95	4.95	0.65309	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.5727	0.61856	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ARFGAP3	41534715	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	6.283000	0.72646	1.851000	0.53745	0.533000	0.62120	.		0.493	ARFGAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319747.2	NM_014570	Intron	25	76	0	0	0	1	0	25	76					T	43204771	A	T	43204771	5	4	398	1	0	0	0	0	0	0	1	0	851	405	14	5	244	5	ARFGAP3	22	43204771	Splice_Site	SNP	A	TCGA-V1-A9ZR-01A-11D-A41K-08		43204771	8099795	41	19467											
RIBC1	158787	broad.mit.edu	37	chrX	53455599	53455599	+	Intron	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcagcccggccctccagacTcagagacctgaggcctagtg	9	5	12	15	1	1	3	1	1	0	2	2	4	2	3	5	2	2	1	5	2	1	1			TCGA-V1-A9ZR-01A-11D-A41K-08	TCGA-V1-A9ZR-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1161c64b-4a41-4fce-a9d4-73d4f091c044	a78aaabf-765f-422c-80b1-597ef3a0c26d	g.chrX:53455599T>G	ENST00000375327.3	+	5	697				RIBC1_ENST00000414955.2_Intron|RIBC1_ENST00000457095.1_Missense_Mutation_p.S190A|RIBC1_ENST00000490702.1_Intron	NM_001031745.2	NP_001026915.1	Q8N443	RIBC1_HUMAN	RIB43A domain with coiled-coils 1											lung(2)	2						CCCTCCAGACTCAGAGACCTG	0.552																																						ENST00000457095.1																			0				lung(2)	2						c.(568-570)Tca>Gca		RIB43A domain with coiled-coils 1							35	34	35					X																	53455599		2203	4299	6502	SO:0001627	intron_variant	158787							g.chrX:53455599T>G	AK057345	CCDS14353.1, CCDS35299.1, CCDS59168.1	Xp11.23	2006-04-12			ENSG00000158423	ENSG00000158423			26537	protein-coding gene	gene with protein product							Standard	NM_144968		Approved	FLJ32783	uc004dsk.4	Q8N443	OTTHUMG00000021615	ENST00000375327.3:c.544+24T>G	X.37:g.53455599T>G						RIBC1_ENST00000490702.1_Intron|RIBC1_ENST00000414955.2_Intron|RIBC1_ENST00000375327.3_Intron	p.S190A	NM_144968.2	NP_659405.1	Q8N443	RIBC1_HUMAN			5	772	+			0					B4E297|E9PDU2|Q5H931|Q96A80	Missense_Mutation	SNP	ENST00000375327.3	37	c.568T>G	CCDS35299.1	.	.	.	.	.	.	.	.	.	.	T	11.05	1.524436	0.27299	.	.	ENSG00000158423	ENST00000457095	.	.	.	3.57	1.14	0.20703	.	.	.	.	.	T	0.15955	0.0384	N	0.08118	0	0.09310	N	1	B	0.20988	0.05	B	0.22601	0.04	T	0.30650	-0.9971	7	.	.	.	.	4.878	0.13665	0.0:0.2693:0.0:0.7307	.	190	Q8N443-2	.	A	190	.	.	S	+	1	0	RIBC1	53472324	0.003000	0.15002	0.002000	0.10522	0.001000	0.01503	0.757000	0.26433	0.137000	0.18759	-0.376000	0.06991	TCA		0.552	RIBC1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056762.1	NM_144968		3	8	0	0	0	1	0	3	8					G	53455599	T	G	53455599	1	3	398	0	1	0	0	0	0	0	0	0	13352	1551	54	5		5	RIBC1	23	53455599	Intron	SNP	T	TCGA-V1-A9ZR-01A-11D-A41K-08		53455599	101814961	42	19468											
HFM1	164045	broad.mit.edu	37	chr1	91859787	91859787	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgagaagcatatgtcagcttGccagcaatatgtgataagtc	13	11	10	7	0	1	2	1	2	0	1	2	3	1	2	1	0	4	3	1	0	5	4			TCGA-VN-A88I-01A-11D-A34U-08	TCGA-VN-A88I-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ddf3f3e-d1b5-40c9-8781-91fc7ad54cb3	bd4e531f-404d-4daa-8842-9718b657a281	g.chr1:91859787G>A	ENST00000370425.3	-	4	455	c.357C>T	c.(355-357)ggC>ggT	p.G119G	HFM1_ENST00000370424.3_Intron|HFM1_ENST00000294696.5_5'UTR	NM_001017975.3	NP_001017975.3	A2PYH4	HFM1_HUMAN	HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae)	119					resolution of meiotic recombination intermediates (GO:0000712)		ATP binding (GO:0005524)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)			breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	75		all_lung(203;0.00961)|Lung NSC(277;0.0351)		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)		ATGTCAGCTTGCCAGCAATAT	0.343																																						ENST00000370425.3																			0				breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	75						c.(355-357)ggC>ggT		HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae)							105	100	102					1																	91859787		2203	4300	6503	SO:0001819	synonymous_variant	164045						ATP binding|ATP-dependent helicase activity|nucleic acid binding	g.chr1:91859787G>A	AB204867	CCDS30769.2	1p22.2	2008-03-26			ENSG00000162669	ENSG00000162669			20193	protein-coding gene	gene with protein product		615684	"SEC63 domain containing 1"	SEC63D1		14702039, 17286053	Standard	XM_006710395		Approved	MER3, FLJ39011, FLJ36760	uc001doa.4	A2PYH4	OTTHUMG00000010093	ENST00000370425.3:c.357C>T	1.37:g.91859787G>A						HFM1_ENST00000294696.5_5'UTR|HFM1_ENST00000370424.3_Intron	p.G119G	NM_001017975.3	NP_001017975.3	A2PYH4	HFM1_HUMAN		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)	4	455	-		all_lung(203;0.00961)|Lung NSC(277;0.0351)	119					B1B0B6|Q8N9Q0	Silent	SNP	ENST00000370425.3	37	c.357C>T	CCDS30769.2																																																																																				0.343	HFM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316716.2	NM_001017975		8	70	0	0	0	1	0	8	70					A	91859787	G	A	91859787	2	1	399	1	0	0	0	0	0	0	0	1	7083	1306	46	3		3	HFM1	1	91859787	Silent	SNP	G	TCGA-VN-A88I-01A-11D-A34U-08		91859787	157390834	1	19469											
GON4L	54856	broad.mit.edu	37	chr1	155732049	155732049	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tggatctcgctcgagaatgtCctcatcatacagcaacagca	12	9	8	12	2	3	1	2	0	1	1	6	3	4	2	1	1	4	3	1	1	3	1			TCGA-VN-A88I-01A-11D-A34U-08	TCGA-VN-A88I-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ddf3f3e-d1b5-40c9-8781-91fc7ad54cb3	bd4e531f-404d-4daa-8842-9718b657a281	g.chr1:155732049C>T	ENST00000368331.1	-	23	4891	c.4843G>A	c.(4843-4845)Gac>Aac	p.D1615N	GON4L_ENST00000471341.1_5'Flank|GON4L_ENST00000437809.1_Missense_Mutation_p.D1615N|GON4L_ENST00000271883.5_Missense_Mutation_p.D1615N	NM_001282858.1|NM_001282860.1	NP_001269787.1|NP_001269789.1	Q3T8J9	GON4L_HUMAN	gon-4-like (C. elegans)	1615					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	45	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)					TCGAGAATGTCCTCATCATAC	0.552																																						ENST00000437809.1																			0				NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	45						c.(4843-4845)Gac>Aac		gon-4-like (C. elegans)							71	69	69					1																	155732049		2022	4180	6202	SO:0001583	missense	54856				regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding	g.chr1:155732049C>T	AB046826	CCDS1121.1, CCDS44242.1, CCDS60296.1	1q22	2013-10-31	2006-11-08	2006-02-16	ENSG00000116580	ENSG00000116580			25973	protein-coding gene	gene with protein product		610393	"gon-4 homolog (C.elegans)"	GON4		16545939, 21454521	Standard	XM_005245283		Approved	FLJ20203, GON-4	uc001fly.1	Q3T8J9	OTTHUMG00000014106	ENST00000368331.1:c.4843G>A	1.37:g.155732049C>T	ENSP00000357315:p.Asp1615Asn					GON4L_ENST00000271883.5_Missense_Mutation_p.D1615N|GON4L_ENST00000368331.1_Missense_Mutation_p.D1615N	p.D1615N			Q3T8J9	GON4L_HUMAN			23	4965	-	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)		1615					B7ZBL4|Q14C93|Q3T8J8|Q5VYZ5|Q5W0D5|Q6AWA6|Q6P1Q6|Q7Z3L3|Q8IY79|Q9BQI1|Q9HCG6	Missense_Mutation	SNP	ENST00000368331.1	37	c.4843G>A		.	.	.	.	.	.	.	.	.	.	C	11.04	1.521621	0.27211	.	.	ENSG00000116580	ENST00000437809;ENST00000368331;ENST00000271883	T;T;T	0.10668	2.85;2.85;2.85	5.13	4.23	0.50019	.	0.190934	0.45606	N	0.000342	T	0.01661	0.0053	N	0.04508	-0.205	0.34584	D	0.714812	B;B;B	0.21606	0.058;0.003;0.005	B;B;B	0.16722	0.007;0.007;0.016	T	0.41875	-0.9484	10	0.34782	T	0.22	.	8.2895	0.31950	0.0:0.7601:0.0:0.2399	.	811;1615;1615	Q1ED43;Q3T8J9;Q3T8J9-3	.;GON4L_HUMAN;.	N	1615	ENSP00000396117:D1615N;ENSP00000357315:D1615N;ENSP00000271883:D1615N	ENSP00000271883:D1615N	D	-	1	0	GON4L	153998673	0.895000	0.30542	1.000000	0.80357	0.826000	0.46750	0.701000	0.25616	1.396000	0.46663	0.305000	0.20034	GAC		0.552	GON4L-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_032292		3	25	0	0	0	1	0	3	25					T	155732049	C	T	155732049	3	4	399	1	0	0	0	0	1	0	0	0	6572	855	30	3	1919	3	GON4L	1	155732049	Missense_Mutation	SNP	C	TCGA-VN-A88I-01A-11D-A34U-08	63872262	155732049	93518572	2	19470											
CR1L	1379	broad.mit.edu	37	chr1	207850913	207850913	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtgctaaggacaagtgcaaaCgtaagtaactctggagtggg	13	8	14	6	1	1	0	0	0	1	0	1	2	1	2	0	3	4	4	0	3	5	3			TCGA-VN-A88I-01A-11D-A34U-08	TCGA-VN-A88I-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ddf3f3e-d1b5-40c9-8781-91fc7ad54cb3	bd4e531f-404d-4daa-8842-9718b657a281	g.chr1:207850913C>T	ENST00000508064.2	+	2	337	c.277C>T	c.(277-279)Cgt>Tgt	p.R93C	CR1L_ENST00000530905.1_3'UTR	NM_175710.1	NP_783641.1	Q2VPA4	CR1L_HUMAN	complement component (3b/4b) receptor 1-like	93	Sushi 1. {ECO:0000255|PROSITE- ProRule:PRU00302}.					cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)|receptor complex (GO:0043235)				endometrium(1)|kidney(1)|large_intestine(2)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						CAAGTGCAAACGTAAGTAACT	0.398																																						ENST00000508064.2																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						c.e2+1		complement component (3b/4b) receptor 1-like							161	146	151					1																	207850913		1853	4092	5945	SO:0001630	splice_region_variant	1379					cytoplasm|extracellular region|membrane		g.chr1:207850913C>T	AY114160	CCDS44310.1	1q32.1	2008-02-05			ENSG00000197721	ENSG00000197721		"Complement system"	2335	protein-coding gene	gene with protein product		605886				2295627	Standard	NM_175710		Approved		uc001hga.4	Q2VPA4	OTTHUMG00000036354	ENST00000508064.2:c.277+1C>T	1.37:g.207850913C>T						CR1L_ENST00000530905.1_3'UTR	p.R93_splice	NM_175710.1	NP_783641.1	Q2VPA4	CR1L_HUMAN			2	337	+			93			Sushi 1.		Q32MC9|Q8NEU7	Splice_Site	SNP	ENST00000508064.2	37	c.277_splice	CCDS44310.1	.	.	.	.	.	.	.	.	.	.	C	16.11	3.030183	0.54790	.	.	ENSG00000197721	ENST00000444269;ENST00000508064	T	0.50813	0.73	2.55	2.55	0.30701	Complement control module (1);Sushi/SCR/CCP (1);	.	.	.	.	T	0.69540	0.3122	M	0.90369	3.11	0.51482	D	0.999926	D	0.89917	1.0	D	0.81914	0.995	T	0.73701	-0.3900	9	0.72032	D	0.01	.	8.7251	0.34465	0.0:1.0:0.0:0.0	.	93	Q2VPA4	CR1L_HUMAN	C	93	ENSP00000421736:R93C	ENSP00000434864:R37C	R	+	1	0	CR1L	205917536	0.951000	0.32395	0.913000	0.36048	0.087000	0.18053	2.440000	0.44855	1.715000	0.51383	0.400000	0.26472	CGT		0.398	CR1L-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390247.1	XM_114735	Missense_Mutation	12	91	0	0	0	1	0	12	91					T	207850913	C	T	207850913	5	4	399	1	0	0	0	0	0	0	1	0	3841	550	19	1	283	1	CR1L	1	207850913	Splice_Site	SNP	C	TCGA-VN-A88I-01A-11D-A34U-08	52118864	207850913	41399708	3	19471											
KYNU	8942	broad.mit.edu	37	chr2	143713791	143713791	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gttatcattttttaagcctaCgccaaaacgatataaaattc	15	14	4	8	2	1	0	1	0	0	0	2	1	1	0	2	0	3	1	2	0	8	8	rs146601376		TCGA-VN-A88I-01A-11D-A34U-08	TCGA-VN-A88I-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ddf3f3e-d1b5-40c9-8781-91fc7ad54cb3	bd4e531f-404d-4daa-8842-9718b657a281	g.chr2:143713791C>T	ENST00000264170.4	+	6	713	c.455C>T	c.(454-456)aCg>aTg	p.T152M	KYNU_ENST00000375773.2_Missense_Mutation_p.T152M|KYNU_ENST00000409512.1_Missense_Mutation_p.T152M	NM_003937.2	NP_003928.1			kynureninase											large_intestine(10)|liver(1)|lung(18)|prostate(3)|skin(4)	36				BRCA - Breast invasive adenocarcinoma(221;0.072)		TTTAAGCCTACGCCAAAACGA	0.294																																						ENST00000264170.4																			0				large_intestine(10)|liver(1)|lung(18)|prostate(3)|skin(4)	36						c.(454-456)aCg>aTg		kynureninase	L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114)	C	MET/THR,MET/THR,MET/THR	0,4406		0,0,2203	88	89	89		455,455,455	4.8	1	2	dbSNP_134	89	1,8597	1.2+/-3.3	0,1,4298	yes	missense,missense,missense	KYNU	NM_001032998.1,NM_001199241.1,NM_003937.2	81,81,81	0,1,6501	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging	152/308,152/466,152/466	143713791	1,13003	2203	4299	6502	SO:0001583	missense	8942				anthranilate metabolic process|NAD biosynthetic process|quinolinate biosynthetic process|response to interferon-gamma|response to vitamin B6	cytosol|mitochondrion|soluble fraction	kynureninase activity|protein homodimerization activity	g.chr2:143713791C>T	U57721	CCDS2183.1, CCDS33299.1	2q22.2	2010-11-23	2010-11-23		ENSG00000115919	ENSG00000115919	3.7.1.3		6469	protein-coding gene	gene with protein product	"L-kynurenine hydrolase"	605197	"kynureninase (L-kynurenine hydrolase)"			8706755, 9180257	Standard	NM_001199241		Approved		uc002tvl.3	Q16719	OTTHUMG00000131829	ENST00000264170.4:c.455C>T	2.37:g.143713791C>T	ENSP00000264170:p.Thr152Met					KYNU_ENST00000375773.2_Missense_Mutation_p.T152M|KYNU_ENST00000409512.1_Missense_Mutation_p.T152M	p.T152M	NM_003937.2	NP_003928.1	Q16719	KYNU_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.072)	6	713	+			152						Missense_Mutation	SNP	ENST00000264170.4	37	c.455C>T	CCDS2183.1	.	.	.	.	.	.	.	.	.	.	C	19.02	3.744918	0.69418	0.0	1.16E-4	ENSG00000115919	ENST00000264170;ENST00000375773;ENST00000409512	D;D;D	0.86562	-2.14;-2.14;-2.14	4.76	4.76	0.60689	Pyridoxal phosphate-dependent transferase, major region, subdomain 2 (1);Pyridoxal phosphate-dependent transferase, major domain (1);Aminotransferase, class V/Cysteine desulfurase (1);	0.000000	0.85682	D	0.000000	D	0.95053	0.8398	M	0.93062	3.375	0.80722	D	1	D;D	0.89917	0.998;1.0	D;D	0.80764	0.939;0.994	D	0.96104	0.9071	10	0.66056	D	0.02	.	18.1028	0.89510	0.0:1.0:0.0:0.0	.	152;152	Q16719;Q9BVW3	KYNU_HUMAN;.	M	152	ENSP00000264170:T152M;ENSP00000364928:T152M;ENSP00000386731:T152M	ENSP00000264170:T152M	T	+	2	0	KYNU	143430261	1.000000	0.71417	0.999000	0.59377	0.885000	0.51271	5.290000	0.65661	2.361000	0.80049	0.591000	0.81541	ACG		0.294	KYNU-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254772.1	NM_001032998		3	43	0	0	0	1	0	3	43					T	143713791	C	T	143713791	3	4	399	1	0	0	0	0	1	0	0	0	8587	536	19	1	473	1	KYNU	2	143713791	Missense_Mutation	SNP	C	TCGA-VN-A88I-01A-11D-A34U-08		143713791	99485582	4	19472											
TM4SF4	7104	broad.mit.edu	37	chr3	149192703	149192703	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gccagatgcctgggggggacCctcattccccttgctttttt	4	13	11	13	0	1	1	1	0	0	1	2	2	2	2	5	3	2	1	5	3	0	5	rs201638815	byFrequency	TCGA-VN-A88I-01A-11D-A34U-08	TCGA-VN-A88I-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ddf3f3e-d1b5-40c9-8781-91fc7ad54cb3	bd4e531f-404d-4daa-8842-9718b657a281	g.chr3:149192703C>G	ENST00000305354.4	+	1	943	c.39C>G	c.(37-39)acC>acG	p.T13T		NM_004617.3	NP_004608.1	P48230	T4S4_HUMAN	transmembrane 4 L six family member 4	13					tissue regeneration (GO:0042246)	integral component of membrane (GO:0016021)				large_intestine(3)|lung(4)|ovary(1)|prostate(1)	9			LUSC - Lung squamous cell carcinoma(72;0.0378)|Lung(72;0.048)			TGGGGGGGACCCTCATTCCCC	0.527																																						ENST00000305354.4																			0				large_intestine(3)|lung(4)|ovary(1)|prostate(1)	9						c.(37-39)acC>acG		transmembrane 4 L six family member 4							72	74	73					3																	149192703		1914	4118	6032	SO:0001819	synonymous_variant	7104					integral to membrane		g.chr3:149192703C>G		CCDS46932.1	3q25	2005-03-21	2005-03-21		ENSG00000169903	ENSG00000169903			11856	protein-coding gene	gene with protein product		606567	"transmembrane 4 superfamily member 4"			7665614	Standard	NM_004617		Approved	il-TMP	uc003exd.2	P48230	OTTHUMG00000159619	ENST00000305354.4:c.39C>G	3.37:g.149192703C>G							p.T13T	NM_004617.3	NP_004608.1	P48230	T4S4_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0378)|Lung(72;0.048)		1	943	+			13					B2RDA4	Silent	SNP	ENST00000305354.4	37	c.39C>G	CCDS46932.1																																																																																				0.527	TM4SF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356528.1			3	36	0	0	0	1	0	3	36					G	149192703	C	G	149192703	2	3	399	1	0	0	0	0	0	0	0	1	15967	610	22	5		5	TM4SF4	3	149192703	Silent	SNP	C	TCGA-VN-A88I-01A-11D-A34U-08		149192703	48829727	5	19473											
PDS5A	23244	broad.mit.edu	37	chr4	39978175	39978175	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cacagagggcagtggcaggcTtgggctgcgcggtgaagtcc	7	6	18	10	2	0	2	0	1	0	1	1	2	1	2	1	5	1	4	1	5	1	1			TCGA-VN-A88I-01A-11D-A34U-08	TCGA-VN-A88I-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ddf3f3e-d1b5-40c9-8781-91fc7ad54cb3	bd4e531f-404d-4daa-8842-9718b657a281	g.chr4:39978175T>C	ENST00000303538.8	-	2	562	c.23A>G	c.(22-24)aAg>aGg	p.K8R	PDS5A_ENST00000503396.1_Missense_Mutation_p.K8R	NM_001100399.1	NP_001093869.1			PDS5, regulator of cohesion maintenance, homolog A (S. cerevisiae)											breast(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(9)|lung(14)|prostate(3)|skin(1)|urinary_tract(1)	39						AGTGGCAGGCTTGGGCTGCGC	0.587											OREG0016159	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000303538.8																			0				breast(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(9)|lung(14)|prostate(3)|skin(1)|urinary_tract(1)	39						c.(22-24)aAg>aGg		PDS5, regulator of cohesion maintenance, homolog A (S. cerevisiae)							74	86	82					4																	39978175		1984	4153	6137	SO:0001583	missense	23244				cell division|mitosis|negative regulation of DNA replication	chromatin|nucleus	identical protein binding	g.chr4:39978175T>C	AF294791	CCDS47045.1, CCDS54759.1	4p14	2007-06-20			ENSG00000121892	ENSG00000121892			29088	protein-coding gene	gene with protein product		613200				11076961, 15855230	Standard	NM_001100399		Approved	KIAA0648, PIG54, SCC-112	uc003guv.4	Q29RF7	OTTHUMG00000160582	ENST00000303538.8:c.23A>G	4.37:g.39978175T>C	ENSP00000303427:p.Lys8Arg		OREG0016159	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	890	PDS5A_ENST00000503396.1_Missense_Mutation_p.K8R	p.K8R	NM_001100399.1	NP_001093869.1	Q29RF7	PDS5A_HUMAN			2	562	-			8						Missense_Mutation	SNP	ENST00000303538.8	37	c.23A>G	CCDS47045.1	.	.	.	.	.	.	.	.	.	.	T	23.3	4.396938	0.83120	.	.	ENSG00000121892	ENST00000303538;ENST00000503396	.	.	.	4.0	4.0	0.46444	.	0.708725	0.12033	U	0.505778	T	0.36799	0.0980	N	0.08118	0	0.39811	D	0.972709	B;B	0.13594	0.003;0.008	B;B	0.11329	0.002;0.006	T	0.14868	-1.0457	8	.	.	.	-6.0951	13.1	0.59214	0.0:0.0:0.0:1.0	.	8;8	Q29RF7-3;Q29RF7	.;PDS5A_HUMAN	R	8	.	.	K	-	2	0	PDS5A	39654570	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.490000	0.60319	1.690000	0.51089	0.482000	0.46254	AAG		0.587	PDS5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361287.1	NM_015200		6	68	0	0	0	1	0	6	68					C	39978175	T	C	39978175	3	2	399	1	0	0	0	0	1	0	0	0	11691	1609	56	4	4151	4	PDS5A	4	39978175	Missense_Mutation	SNP	T	TCGA-VN-A88I-01A-11D-A34U-08		39978175	151176101	6	19474											
FAT4	79633	broad.mit.edu	37	chr4	126367460	126367460	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgctttagttataggatcatCggtggaaactctcagttcac	10	14	9	8	1	3	0	3	0	1	0	5	2	3	2	0	3	2	3	0	3	4	5			TCGA-VN-A88I-01A-11D-A34U-08	TCGA-VN-A88I-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ddf3f3e-d1b5-40c9-8781-91fc7ad54cb3	bd4e531f-404d-4daa-8842-9718b657a281	g.chr4:126367460C>T	ENST00000394329.3	+	8	7219	c.7206C>T	c.(7204-7206)atC>atT	p.I2402I	FAT4_ENST00000335110.5_Silent_p.I700I	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	2402	Cadherin 23. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						ATAGGATCATCGGTGGAAACT	0.343																																						ENST00000394329.3																			0				NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						c.(7204-7206)atC>atT		FAT atypical cadherin 4							87	85	86					4																	126367460		2203	4299	6502	SO:0001819	synonymous_variant	79633				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:126367460C>T	AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"Cadherins / Cadherin-related"	23109	protein-coding gene	gene with protein product	"cadherin-related family member 11"	612411	"FAT tumor suppressor homolog 4 (Drosophila)"			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.7206C>T	4.37:g.126367460C>T						FAT4_ENST00000335110.5_Silent_p.I700I	p.I2402I	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN			8	7219	+			2402			Cadherin 23.		A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Silent	SNP	ENST00000394329.3	37	c.7206C>T	CCDS3732.3																																																																																				0.343	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582		5	95	0	0	0	1	0	5	95					T	126367460	C	T	126367460	2	4	399	1	0	0	0	0	0	0	0	1	5692	874	31	2		2	FAT4	4	126367460	Silent	SNP	C	TCGA-VN-A88I-01A-11D-A34U-08	86389285	126367460	64786816	7	19475											
HDAC3	8841	broad.mit.edu	37	chr5	141005259	141005259	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctgagctgctgacctggcgtGagttctgattctcgatgcgg	5	12	14	10	3	2	4	0	4	2	0	3	5	2	4	1	2	3	3	1	2	0	2			TCGA-VN-A88I-01A-11D-A34U-08	TCGA-VN-A88I-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ddf3f3e-d1b5-40c9-8781-91fc7ad54cb3	bd4e531f-404d-4daa-8842-9718b657a281	g.chr5:141005259G>A	ENST00000305264.3	-	13	1131	c.1052C>T	c.(1051-1053)tCa>tTa	p.S351L	AC008781.7_ENST00000422040.2_RNA|HDAC3_ENST00000469207.1_Intron	NM_003883.3	NP_003874.2	O15379	HDAC3_HUMAN	histone deacetylase 3	351					cellular lipid metabolic process (GO:0044255)|chromatin modification (GO:0016568)|circadian regulation of gene expression (GO:0032922)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell cycle (GO:0045786)|negative regulation of JNK cascade (GO:0046329)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|protein deacetylation (GO:0006476)|regulation of mitotic cell cycle (GO:0007346)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|spindle assembly (GO:0051225)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|histone deacetylase complex (GO:0000118)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|cyclin binding (GO:0030332)|enzyme binding (GO:0019899)|histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|protein deacetylase activity (GO:0033558)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			endometrium(1)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	13			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Vorinostat(DB02546)	GACCTGGCGTGAGTTCTGATT	0.498																																						ENST00000305264.3																			0				endometrium(1)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	13						c.(1051-1053)tCa>tTa		histone deacetylase 3	Vorinostat(DB02546)						114	107	109					5																	141005259		2203	4300	6503	SO:0001583	missense	8841				anti-apoptosis|cellular lipid metabolic process|negative regulation of cell cycle|negative regulation of JNK cascade|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|spindle assembly|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|spindle microtubule|transcriptional repressor complex	histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|transcription corepressor activity|transcription factor binding	g.chr5:141005259G>A	AF059650	CCDS4264.1	5q31.1-q31.2	2008-07-18			ENSG00000171720	ENSG00000171720	3.5.1.98		4854	protein-coding gene	gene with protein product		605166				9501169, 9464271	Standard	NM_003883		Approved	RPD3, HD3, RPD3-2	uc003llf.2	O15379	OTTHUMG00000129629	ENST00000305264.3:c.1052C>T	5.37:g.141005259G>A	ENSP00000302967:p.Ser351Leu					AC008781.7_ENST00000422040.1_RNA|HDAC3_ENST00000469207.1_Intron	p.S351L	NM_003883.3	NP_003874.2	O15379	HDAC3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		13	1131	-			351					D3DQE1|O43268|Q9UEI5|Q9UEV0	Missense_Mutation	SNP	ENST00000305264.3	37	c.1052C>T	CCDS4264.1	.	.	.	.	.	.	.	.	.	.	G	34	5.378737	0.95945	.	.	ENSG00000171720	ENST00000305264	T	0.73047	-0.71	5.43	5.43	0.79202	Histone deacetylase domain (1);	0.000000	0.85682	D	0.000000	T	0.78013	0.4217	M	0.85099	2.735	0.80722	D	1	P	0.41624	0.757	B	0.41813	0.367	T	0.82404	-0.0474	10	0.87932	D	0	-7.9809	19.0206	0.92912	0.0:0.0:1.0:0.0	.	351	O15379	HDAC3_HUMAN	L	351	ENSP00000302967:S351L	ENSP00000302967:S351L	S	-	2	0	HDAC3	140985443	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.419000	0.97397	2.824000	0.97209	0.655000	0.94253	TCA		0.498	HDAC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251824.2	NM_003883		7	43	0	0	0	1	0	7	43					A	141005259	G	A	141005259	3	1	399	1	0	0	0	0	1	0	0	0	7008	1294	45	3	246	3	HDAC3	5	141005259	Missense_Mutation	SNP	G	TCGA-VN-A88I-01A-11D-A34U-08		141005259	39910001	8	19476											
GNL1	2794	broad.mit.edu	37	chr6	30515194	30515194	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gtcacagagcttcacagaggGggtaagaaagtaggtctgaa	14	7	14	6	0	3	4	2	1	1	3	3	4	3	4	0	3	1	3	0	3	4	3			TCGA-VN-A88I-01A-11D-A34U-08	TCGA-VN-A88I-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ddf3f3e-d1b5-40c9-8781-91fc7ad54cb3	bd4e531f-404d-4daa-8842-9718b657a281	g.chr6:30515194G>A	ENST00000376621.3	-	9	2183	c.1213C>T	c.(1213-1215)Ccc>Tcc	p.P405S		NM_005275.3	NP_005266.2	P36915	GNL1_HUMAN	guanine nucleotide binding protein-like 1	405	CP-type G. {ECO:0000255|PROSITE- ProRule:PRU01058}.				cellular response to DNA damage stimulus (GO:0006974)|GTP catabolic process (GO:0006184)|ribosome biogenesis (GO:0042254)|signal transduction (GO:0007165)|T cell mediated immunity (GO:0002456)	cytosol (GO:0005829)|extracellular space (GO:0005615)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural molecule activity (GO:0005198)			cervix(2)|endometrium(4)|large_intestine(1)|lung(10)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	25						TTCACAGAGGGGGTAAGAAAG	0.562																																						ENST00000376621.3																			0				cervix(2)|endometrium(4)|large_intestine(1)|lung(10)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	25						c.(1213-1215)Ccc>Tcc		guanine nucleotide binding protein-like 1							173	173	173					6																	30515194		2203	4300	6503	SO:0001583	missense	2794				response to DNA damage stimulus|signal transduction|T cell mediated immunity	extracellular space|intracellular	GTP binding|structural molecule activity	g.chr6:30515194G>A		CCDS4680.1	6p21.3	2010-02-17			ENSG00000204590	ENSG00000204590			4413	protein-coding gene	gene with protein product		143024				8180467	Standard	NM_005275		Approved	HSR1	uc003nqh.3	P36915	OTTHUMG00000031137	ENST00000376621.3:c.1213C>T	6.37:g.30515194G>A	ENSP00000365806:p.Pro405Ser						p.P405S	NM_005275.3	NP_005266.2	P36915	GNL1_HUMAN			9	2183	-			405			G.		B0S838|Q96CT5	Missense_Mutation	SNP	ENST00000376621.3	37	c.1213C>T	CCDS4680.1	.	.	.	.	.	.	.	.	.	.	G	14.52	2.561233	0.45590	.	.	ENSG00000204590	ENST00000376621;ENST00000426875;ENST00000429126	T	0.15139	2.45	5.19	5.19	0.71726	GTP-binding domain, HSR1-related (1);	0.113676	0.64402	D	0.000013	T	0.05686	0.0149	N	0.17901	0.54	0.58432	D	0.999998	B;P;P	0.40398	0.127;0.716;0.716	B;B;B	0.35039	0.173;0.194;0.194	T	0.35475	-0.9787	10	0.25751	T	0.34	-32.1178	17.6326	0.88113	0.0:0.0:1.0:0.0	.	403;202;405	B4DYK6;B4DWZ0;P36915	.;.;GNL1_HUMAN	S	405;227;202	ENSP00000365806:P405S	ENSP00000365806:P405S	P	-	1	0	GNL1	30623173	1.000000	0.71417	0.907000	0.35723	0.479000	0.33129	6.435000	0.73412	2.698000	0.92095	0.561000	0.74099	CCC		0.562	GNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076241.2			21	197	0	0	0	1	0	21	197					A	30515194	G	A	30515194	3	1	399	1	0	0	0	0	1	0	0	0	6535	1232	43	3	626	3	GNL1	6	30515194	Missense_Mutation	SNP	G	TCGA-VN-A88I-01A-11D-A34U-08		30515194	140599873	9	19477											
OPRM1	4988	broad.mit.edu	37	chr6	154412543	154412543	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgagcaacaaaactccactcGaattcgtcagaacactagag	16	7	7	11	2	1	3	1	1	0	2	4	4	2	3	1	0	4	1	1	0	6	2	rs201516315		TCGA-VN-A88I-01A-11D-A34U-08	TCGA-VN-A88I-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ddf3f3e-d1b5-40c9-8781-91fc7ad54cb3	bd4e531f-404d-4daa-8842-9718b657a281	g.chr6:154412543G>A	ENST00000330432.7	+	3	1337	c.1100G>A	c.(1099-1101)cGa>cAa	p.R367Q	OPRM1_ENST00000414028.2_Missense_Mutation_p.R367Q|OPRM1_ENST00000435918.2_Missense_Mutation_p.R367Q|OPRM1_ENST00000337049.4_Missense_Mutation_p.R367Q|OPRM1_ENST00000518759.1_Missense_Mutation_p.R286Q|OPRM1_ENST00000452687.2_Missense_Mutation_p.R367Q|OPRM1_ENST00000419506.2_Missense_Mutation_p.R367Q|OPRM1_ENST00000520708.1_Missense_Mutation_p.R267Q|OPRM1_ENST00000522236.1_Missense_Mutation_p.R267Q|OPRM1_ENST00000229768.5_Missense_Mutation_p.R367Q|OPRM1_ENST00000522555.1_Missense_Mutation_p.R267Q|OPRM1_ENST00000434900.2_Missense_Mutation_p.R460Q|OPRM1_ENST00000360422.4_Missense_Mutation_p.R367Q|OPRM1_ENST00000524163.1_Missense_Mutation_p.R367Q|OPRM1_ENST00000428397.2_Missense_Mutation_p.R367Q	NM_000914.3	NP_000905.3	P35372	OPRM_HUMAN	opioid receptor, mu 1	367					adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|behavioral response to ethanol (GO:0048149)|calcium ion transmembrane transport (GO:0070588)|cellular response to stress (GO:0033554)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|locomotory behavior (GO:0007626)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of cAMP-mediated signaling (GO:0043951)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|negative regulation of nitric oxide biosynthetic process (GO:0045019)|negative regulation of Wnt protein secretion (GO:0061358)|neuropeptide signaling pathway (GO:0007218)|opioid receptor signaling pathway (GO:0038003)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neurogenesis (GO:0050769)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|sensory perception (GO:0007600)|sensory perception of pain (GO:0019233)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	beta-endorphin receptor activity (GO:0004979)|G-protein alpha-subunit binding (GO:0001965)|G-protein coupled receptor activity (GO:0004930)|morphine receptor activity (GO:0038047)|voltage-gated calcium channel activity (GO:0005245)	p.R367L(2)|p.R460L(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(15)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	33		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;9.26e-11)|BRCA - Breast invasive adenocarcinoma(81;0.0154)	Alfentanil(DB00802)|Alvimopan(DB06274)|Amitriptyline(DB00321)|Anileridine(DB00913)|Buprenorphine(DB00921)|Butorphanol(DB00611)|Codeine(DB00318)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Dezocine(DB01209)|Diphenoxylate(DB01081)|Ethylmorphine(DB01466)|Fentanyl(DB00813)|Heroin(DB01452)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Ketamine(DB01221)|Ketobemidone(DB06738)|Levallorphan(DB00504)|Levomethadyl Acetate(DB01227)|Levorphanol(DB00854)|Loperamide(DB00836)|Methadone(DB00333)|Methadyl Acetate(DB01433)|Methylnaltrexone(DB06800)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Ondansetron(DB00904)|Oxycodone(DB00497)|Oxymorphone(DB01192)|Pentazocine(DB00652)|Pethidine(DB00454)|Remifentanil(DB00899)|Sufentanil(DB00708)|Tapentadol(DB06204)|Tramadol(DB00193)	AACTCCACTCGAATTCGTCAG	0.443																																						ENST00000414028.2																			3	Substitution - Missense(3)	p.R367L(2)|p.R460L(1)	kidney(3)	breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(15)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	33						c.(1099-1101)cGa>cAa		opioid receptor, mu 1	Alfentanil(DB00802)|Anileridine(DB00913)|Buprenorphine(DB00921)|Butorphanol(DB00611)|Codeine(DB00318)|Dezocine(DB01209)|Diphenoxylate(DB01081)|Fentanyl(DB00813)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Levallorphan(DB00504)|Levomethadyl Acetate(DB01227)|Levorphanol(DB00854)|Loperamide(DB00836)|Methadone(DB00333)|Methadyl Acetate(DB01433)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Oxycodone(DB00497)|Oxymorphone(DB01192)|Pentazocine(DB00652)|Propoxyphene(DB00647)|Remifentanil(DB00899)|Sufentanil(DB00708)|Tramadol(DB00193)						59	58	58					6																	154412543		1916	4124	6040	SO:0001583	missense	4988				behavior|negative regulation of cell proliferation|sensory perception	endoplasmic reticulum|Golgi apparatus|integral to plasma membrane	mu-opioid receptor activity|protein binding	g.chr6:154412543G>A	L29301	CCDS43517.1, CCDS43518.1, CCDS47503.1, CCDS47504.1, CCDS47505.1, CCDS47506.1, CCDS47507.1, CCDS47508.1, CCDS55071.1, CCDS55068.1, CCDS55069.1, CCDS55070.1	6q24-q25	2012-08-08			ENSG00000112038	ENSG00000112038		"GPCR / Class A : Opioid receptors"	8156	protein-coding gene	gene with protein product		600018					Standard	NM_001145285		Approved	MOR1	uc003qpo.1	P35372	OTTHUMG00000015870	ENST00000330432.7:c.1100G>A	6.37:g.154412543G>A	ENSP00000328264:p.Arg367Gln					OPRM1_ENST00000229768.5_Missense_Mutation_p.R367Q|OPRM1_ENST00000419506.2_Missense_Mutation_p.R367Q|OPRM1_ENST00000360422.4_Missense_Mutation_p.R367Q|OPRM1_ENST00000518759.1_Missense_Mutation_p.R286Q|OPRM1_ENST00000522555.1_Missense_Mutation_p.R267Q|OPRM1_ENST00000524163.1_Missense_Mutation_p.R367Q|OPRM1_ENST00000337049.4_Missense_Mutation_p.R367Q|OPRM1_ENST00000435918.2_Missense_Mutation_p.R367Q|OPRM1_ENST00000520708.1_Missense_Mutation_p.R267Q|OPRM1_ENST00000434900.2_Missense_Mutation_p.R460Q|OPRM1_ENST00000330432.7_Missense_Mutation_p.R367Q|OPRM1_ENST00000428397.2_Missense_Mutation_p.R367Q|OPRM1_ENST00000522236.1_Missense_Mutation_p.R267Q|OPRM1_ENST00000452687.2_Missense_Mutation_p.R367Q	p.R367Q	NM_001145284.2	NP_001138756.1	P35372	OPRM_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;9.26e-11)|BRCA - Breast invasive adenocarcinoma(81;0.0154)	3	1150	+		Ovarian(120;0.196)	367					B0FXJ1|B2R9S7|B8Q1L7|B8Q1L8|B8Q1L9|E7EWZ3|G8XRH6|G8XRH8|Q12930|Q4VWM1|Q4VWM2|Q4VWM3|Q4VWM4|Q4VWM6|Q4VWX6|Q5TDA1|Q6UPP1|Q6UQ80|Q7Z2D8|Q86V80|Q8IWW3|Q8IWW4|Q9UCZ4|Q9UN57	Missense_Mutation	SNP	ENST00000330432.7	37	c.1100G>A	CCDS55070.1	.	.	.	.	.	.	.	.	.	.	G	28.1	4.889555	0.91889	.	.	ENSG00000112038	ENST00000434900;ENST00000520708;ENST00000518759;ENST00000330432;ENST00000360422;ENST00000428397;ENST00000452687;ENST00000229768;ENST00000419506;ENST00000524163;ENST00000414028;ENST00000435918;ENST00000337049;ENST00000522555;ENST00000522236	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.37058	1.22;1.22;1.22;1.22;1.22;1.22;1.22;1.22;1.22;1.22;1.22;1.22;1.22;1.22;1.22	6.16	5.3	0.74995	.	0.291378	0.34067	N	0.004299	T	0.53417	0.1795	M	0.77616	2.38	0.48696	D	0.999698	D;D;D;D;D;D;D;D;D;D;D;D	0.89917	1.0;0.999;0.999;1.0;1.0;0.997;0.991;1.0;0.999;1.0;1.0;0.999	D;D;D;D;D;P;P;D;D;D;D;D	0.87578	0.998;0.979;0.985;0.998;0.989;0.862;0.781;0.989;0.966;0.983;0.992;0.979	T	0.61574	-0.7035	10	0.66056	D	0.02	.	15.319	0.74105	0.0662:0.0:0.9338:0.0	.	367;367;367;367;460;286;267;367;367;367;367;367	P35372-4;P35372-8;P35372-11;P35372-9;P35372-10;B8Q1L9;Q6UPP1;P35372-5;P35372;P35372-7;P35372-3;P35372-2	.;.;.;.;.;.;.;.;OPRM_HUMAN;.;.;.	Q	460;267;286;367;367;367;367;367;367;367;367;367;367;267;267	ENSP00000394624:R460Q;ENSP00000430876:R267Q;ENSP00000430260:R286Q;ENSP00000328264:R367Q;ENSP00000353598:R367Q;ENSP00000411903:R367Q;ENSP00000410497:R367Q;ENSP00000229768:R367Q;ENSP00000403549:R367Q;ENSP00000430097:R367Q;ENSP00000399359:R367Q;ENSP00000413752:R367Q;ENSP00000338381:R367Q;ENSP00000429719:R267Q;ENSP00000429373:R267Q	ENSP00000229768:R367Q	R	+	2	0	OPRM1	154454236	1.000000	0.71417	0.991000	0.47740	0.992000	0.81027	6.535000	0.73838	1.626000	0.50381	0.650000	0.86243	CGA		0.443	OPRM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042786.2	NM_000914		4	91	0	0	0	1	0	4	91					A	154412543	G	A	154412543	3	1	399	1	0	0	0	0	1	0	0	0	10887	1058	37	2	1444	2	OPRM1	6	154412543	Missense_Mutation	SNP	G	TCGA-VN-A88I-01A-11D-A34U-08	123897349	154412543	16702524	10	19478											
NRG1	3084	broad.mit.edu	37	chr8	32621634	32621634	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaaactcgccaatagccggcGggccaaaagaaccaagccca	15	2	10	14	3	0	1	0	0	0	1	1	2	0	1	5	2	4	0	5	2	7	1	rs141355195	byFrequency	TCGA-VN-A88I-01A-11D-A34U-08	TCGA-VN-A88I-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ddf3f3e-d1b5-40c9-8781-91fc7ad54cb3	bd4e531f-404d-4daa-8842-9718b657a281	g.chr8:32621634G>A	ENST00000405005.3	+	12	1637	c.1637G>A	c.(1636-1638)cGg>cAg	p.R546Q	NRG1_ENST00000338921.4_Missense_Mutation_p.R554Q|NRG1_ENST00000539990.1_Missense_Mutation_p.R389Q|NRG1_ENST00000287842.3_Missense_Mutation_p.R543Q|NRG1_ENST00000519301.1_Missense_Mutation_p.R496Q|NRG1_ENST00000341377.5_3'UTR|NRG1_ENST00000356819.4_Missense_Mutation_p.R551Q|NRG1_ENST00000287845.5_Missense_Mutation_p.R517Q|RP11-1002K11.1_ENST00000607314.1_lincRNA			Q02297	NRG1_HUMAN	neuregulin 1	546					activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|cardiac conduction system development (GO:0003161)|cardiac muscle cell differentiation (GO:0055007)|cardiac muscle cell myoblast differentiation (GO:0060379)|cell communication (GO:0007154)|cell migration (GO:0016477)|cell morphogenesis (GO:0000902)|cell proliferation (GO:0008283)|cellular protein complex disassembly (GO:0043624)|embryo development (GO:0009790)|endocardial cell differentiation (GO:0060956)|epidermal growth factor receptor signaling pathway (GO:0007173)|ERBB signaling pathway (GO:0038127)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glial cell fate commitment (GO:0021781)|innate immune response (GO:0045087)|locomotory behavior (GO:0007626)|mammary gland development (GO:0030879)|MAPK cascade (GO:0000165)|negative regulation of cardiac muscle cell apoptotic process (GO:0010667)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of secretion (GO:0051048)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|neural crest cell development (GO:0014032)|neuron fate commitment (GO:0048663)|neurotransmitter receptor metabolic process (GO:0045213)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peripheral nervous system development (GO:0007422)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell growth (GO:0030307)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of Ras protein signal transduction (GO:0046579)|positive regulation of striated muscle cell differentiation (GO:0051155)|regulation of protein heterodimerization activity (GO:0043497)|regulation of protein homodimerization activity (GO:0043496)|synapse assembly (GO:0007416)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|ventricular cardiac muscle cell differentiation (GO:0055012)|ventricular trabecula myocardium morphogenesis (GO:0003222)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|axon (GO:0030424)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)	cytokine activity (GO:0005125)|ErbB-3 class receptor binding (GO:0043125)|growth factor activity (GO:0008083)|protein tyrosine kinase activator activity (GO:0030296)|receptor binding (GO:0005102)|receptor tyrosine kinase binding (GO:0030971)|transcription cofactor activity (GO:0003712)|transmembrane receptor protein tyrosine kinase activator activity (GO:0030297)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(1)|skin(1)	39		Breast(100;0.203)		KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943)		AATAGCCGGCGGGCCAAAAGA	0.517													G|||	5	0.000998403	0.0015	0	5008	,	,		17415	0		0	False		,,,				2504	0.0031					ENST00000338921.4																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(1)|skin(1)	39						c.(1660-1662)cGg>cAg		neuregulin 1		G	GLN/ARG,,GLN/ARG,GLN/ARG,,GLN/ARG,GLN/ARG,,GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	65	62	63		1538,,1589,1487,,1652,1628,,1637	5.8	1	8	dbSNP_134	63	0,8600		0,0,4300	no	missense,utr-3,missense,missense,utr-3,missense,missense,utr-3,missense	NRG1	NM_001159995.1,NM_001159996.1,NM_001159999.1,NM_001160001.1,NM_001160004.1,NM_013956.3,NM_013957.3,NM_013960.3,NM_013964.3	43,,43,43,,43,43,,43	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,,probably-damaging,probably-damaging,,probably-damaging,probably-damaging,,probably-damaging	513/608,,530/625,496/591,,551/646,543/638,,546/641	32621634	1,13005	2203	4300	6503	SO:0001583	missense	3084				activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|cardiac muscle cell differentiation|cell communication|cell proliferation|cellular protein complex disassembly|embryo development|mammary gland development|negative regulation of cardiac muscle cell apoptosis|negative regulation of secretion|negative regulation of transcription, DNA-dependent|nervous system development|neural crest cell development|Notch signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of striated muscle cell differentiation|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|transmembrane receptor protein tyrosine kinase signaling pathway|ventricular cardiac muscle cell differentiation|wound healing	apical plasma membrane|extracellular region|extracellular space|integral to membrane|nucleus|plasma membrane	cytokine activity|ErbB-3 class receptor binding|growth factor activity|protein binding|protein tyrosine kinase activator activity|receptor tyrosine kinase binding|transcription cofactor activity|transmembrane receptor protein tyrosine kinase activator activity	g.chr8:32621634G>A	L12261	CCDS6084.1, CCDS6085.1, CCDS6086.1, CCDS6087.1, CCDS47836.1, CCDS55218.1, CCDS55219.1, CCDS75727.1	8p21-p12	2014-06-23			ENSG00000157168	ENSG00000157168		"Immunoglobulin superfamily / I-set domain containing"	7997	protein-coding gene	gene with protein product		142445	"NRG1 intronic transcript 2 (non-protein coding)"	HGL, NRG1-IT2		1350381, 8095334	Standard	NM_013962		Approved	HRG, NDF, GGF	uc003xiu.2	Q02297	OTTHUMG00000163918	ENST00000405005.3:c.1637G>A	8.37:g.32621634G>A	ENSP00000384620:p.Arg546Gln					NRG1_ENST00000356819.4_Missense_Mutation_p.R551Q|NRG1_ENST00000341377.5_3'UTR|NRG1_ENST00000287842.3_Missense_Mutation_p.R543Q|NRG1_ENST00000287845.5_Missense_Mutation_p.R517Q|NRG1_ENST00000287840.5_Missense_Mutation_p.R546Q|NRG1_ENST00000539990.1_Missense_Mutation_p.R389Q|NRG1_ENST00000405005.2_Missense_Mutation_p.R546Q|NRG1_ENST00000519301.1_Missense_Mutation_p.R496Q	p.R554Q			Q02297	NRG1_HUMAN		KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943)	13	2178	+		Breast(100;0.203)	546					A5YAK4|A5YAK5|A8K1L2|B7Z4Z3|E9PHH4|O14667|P98202|Q02298|Q02299|Q07110|Q07111|Q12779|Q12780|Q12781|Q12782|Q12783|Q12784|Q15491|Q7RTV9|Q7RTW0|Q7RTW1|Q7RTW2|Q8NFN1|Q8NFN2|Q8NFN3|Q9UPE3	Missense_Mutation	SNP	ENST00000405005.3	37	c.1661G>A	CCDS6085.1	.	.	.	.	.	.	.	.	.	.	G	19.10	3.762607	0.69763	2.27E-4	0.0	ENSG00000157168	ENST00000519301;ENST00000523534;ENST00000338921;ENST00000356819;ENST00000287840;ENST00000287845;ENST00000287842;ENST00000405005;ENST00000539990	T;T;T;T;T;T;T;T;T	0.62498	0.02;0.02;0.02;0.02;0.02;0.02;0.02;0.02;0.02	5.75	5.75	0.90469	Neuregulin 1-related, C-terminal (1);	0.061519	0.64402	D	0.000007	T	0.78947	0.4364	M	0.67397	2.05	0.44092	D	0.996855	D;D;D;D;D;D;D	0.89917	1.0;0.997;0.998;0.996;0.997;0.999;0.997	D;D;D;P;D;D;D	0.85130	0.993;0.925;0.966;0.731;0.925;0.997;0.942	T	0.76653	-0.2880	9	.	.	.	0.3992	19.9364	0.97143	0.0:0.0:1.0:0.0	.	389;517;551;554;543;546;551	B7Z1E3;F8W9E3;Q7RTW4;Q02297-2;Q02297-7;Q02297;Q02297-6	.;.;.;.;.;NRG1_HUMAN;.	Q	496;619;554;551;546;517;543;546;389	ENSP00000429582:R496Q;ENSP00000429067:R619Q;ENSP00000343395:R554Q;ENSP00000349275:R551Q;ENSP00000287840:R546Q;ENSP00000287845:R517Q;ENSP00000287842:R543Q;ENSP00000384620:R546Q;ENSP00000439276:R389Q	.	R	+	2	0	NRG1	32741176	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.403000	0.73264	2.724000	0.93272	0.455000	0.32223	CGG		0.517	NRG1-017	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000472504.1			5	29	0	0	0	1	0	5	29					A	32621634	G	A	32621634	3	1	399	1	0	0	0	0	1	0	0	0	10647	1116	39	2	3408	2	NRG1	8	32621634	Missense_Mutation	SNP	G	TCGA-VN-A88I-01A-11D-A34U-08		32621634	113742388	11	19479											
C9orf9	11092	broad.mit.edu	37	chr9	135765348	135765348	+	3'UTR	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtttttcccttcacaggggaCgacttagcttctgtattatt	7	17	8	9	1	2	0	1	0	1	0	3	2	3	1	1	2	1	3	1	2	3	8	rs2231412		TCGA-VN-A88I-01A-11D-A34U-08	TCGA-VN-A88I-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ddf3f3e-d1b5-40c9-8781-91fc7ad54cb3	bd4e531f-404d-4daa-8842-9718b657a281	g.chr9:135765348C>T	ENST00000372136.3	+	0	2466				C9orf9_ENST00000356311.5_3'UTR|C9orf9_ENST00000350499.6_Missense_Mutation_p.T167M			Q96E40	CI009_HUMAN	chromosome 9 open reading frame 9							cytoplasmic microtubule (GO:0005881)		p.?(1)		cervix(1)|large_intestine(1)|lung(1)|prostate(1)	4				OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|GBM - Glioblastoma multiforme(294;4.84e-07)|Epithelial(140;1.28e-06)		TCACAGGGGACGACTTAGCTT	0.448																																						ENST00000350499.6																			1	Unknown(1)	p.?(1)	bone(1)	cervix(1)|large_intestine(1)|lung(1)|prostate(1)	4						c.(499-501)aCg>aTg		chromosome 9 open reading frame 9		C	MET/THR	1,4405	2.1+/-5.4	0,1,2202	337	313	321		500	3.5	1	9	dbSNP_98	321	0,8600		0,0,4300	no	missense	C9orf9	NM_018956.3	81	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	possibly-damaging	167/169	135765348	1,13005	2203	4300	6503	SO:0001624	3_prime_UTR_variant	11092							g.chr9:135765348C>T		CCDS6955.1	9q34.13	2012-03-06			ENSG00000165698	ENSG00000165698			1367	protein-coding gene	gene with protein product							Standard	NM_018956		Approved		uc004cby.1	Q96E40	OTTHUMG00000020847	ENST00000372136.3:c.*1350C>T	9.37:g.135765348C>T						C9orf9_ENST00000356311.5_3'UTR|C9orf9_ENST00000372136.3_3'UTR	p.T167M	NM_018956.3	NP_061829.3	Q96E40	CI009_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|GBM - Glioblastoma multiforme(294;4.84e-07)|Epithelial(140;1.28e-06)	5	654	+			0					Q9UGQ0	Missense_Mutation	SNP	ENST00000372136.3	37	c.500C>T		.	.	.	.	.	.	.	.	.	.	C	14.44	2.536793	0.45176	2.27E-4	0.0	ENSG00000165698	ENST00000350499	T	0.46063	0.88	5.39	3.49	0.39957	.	.	.	.	.	T	0.29288	0.0729	.	.	.	0.27149	N	0.961464	P	0.45348	0.856	B	0.36885	0.235	T	0.23547	-1.0185	8	0.72032	D	0.01	.	5.7927	0.18369	0.1936:0.7101:0.0:0.0963	rs2231412;rs2231412	167	Q96E40-2	.	M	167	ENSP00000298546:T167M	ENSP00000298546:T167M	T	+	2	0	C9orf9	134755169	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	0.781000	0.26774	1.204000	0.43247	0.462000	0.41574	ACG		0.448	C9orf9-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000054806.1	NM_018956		21	303	0	0	0	1	0	21	303					T	135765348	C	T	135765348	1	4	399	0	1	0	0	0	0	0	0	0	2504	536	19	1		1	C9orf9	9	135765348	3'UTR	SNP	C	TCGA-VN-A88I-01A-11D-A34U-08		135765348	5448083	12	19480											
RRP12	23223	broad.mit.edu	37	chr10	99132862	99132862	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcacagcccggcgaggggCtggagtgtccccggctgcca	6	4	16	15	3	0	0	0	0	0	0	1	2	1	1	4	5	3	3	4	5	0	0			TCGA-VN-A88I-01A-11D-A34U-08	TCGA-VN-A88I-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ddf3f3e-d1b5-40c9-8781-91fc7ad54cb3	bd4e531f-404d-4daa-8842-9718b657a281	g.chr10:99132862C>T	ENST00000370992.4	-	18	2233	c.2122G>A	c.(2122-2124)Gcc>Acc	p.A708T	RRP12_ENST00000315563.6_Missense_Mutation_p.A608T|RRP12_ENST00000479481.1_5'UTR|RRP12_ENST00000414986.1_Missense_Mutation_p.A647T|RRP12_ENST00000536831.1_Missense_Mutation_p.A426T	NM_015179.3	NP_055994.2	Q5JTH9	RRP12_HUMAN	ribosomal RNA processing 12 homolog (S. cerevisiae)	708						integral component of membrane (GO:0016021)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(2)|lung(13)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37		Colorectal(252;0.162)		Epithelial(162;2.72e-09)|all cancers(201;1.76e-07)		CGGCGAGGGGCTGGAGTGTCC	0.607																																						ENST00000370992.4																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(2)|lung(13)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37						c.(2122-2124)Gcc>Acc		ribosomal RNA processing 12 homolog (S. cerevisiae)							42	45	44					10																	99132862		2203	4300	6503	SO:0001583	missense	23223					integral to membrane|nuclear membrane|nucleolus	protein binding	g.chr10:99132862C>T		CCDS7457.1, CCDS44467.1, CCDS60605.1	10q24.2	2006-11-06	2006-11-06	2006-11-06	ENSG00000052749	ENSG00000052749			29100	protein-coding gene	gene with protein product			"KIAA0690"	KIAA0690		9734811	Standard	NM_015179		Approved		uc001knf.3	Q5JTH9	OTTHUMG00000018855	ENST00000370992.4:c.2122G>A	10.37:g.99132862C>T	ENSP00000360031:p.Ala708Thr					RRP12_ENST00000315563.6_Missense_Mutation_p.A608T|RRP12_ENST00000536831.1_Missense_Mutation_p.A426T|RRP12_ENST00000414986.1_Missense_Mutation_p.A647T|RRP12_ENST00000479481.1_5'UTR	p.A708T	NM_015179.3	NP_055994.2	Q5JTH9	RRP12_HUMAN		Epithelial(162;2.72e-09)|all cancers(201;1.76e-07)	18	2233	-		Colorectal(252;0.162)	708					B4DK00|E9PCK7|Q5JTH8|Q69YK4|Q96E87|Q9BUH3|Q9Y4C7	Missense_Mutation	SNP	ENST00000370992.4	37	c.2122G>A	CCDS7457.1	.	.	.	.	.	.	.	.	.	.	C	8.731	0.916725	0.17907	.	.	ENSG00000052749	ENST00000370992;ENST00000315563;ENST00000414986;ENST00000536831	T;T;T;T	0.29655	1.56;1.56;1.56;1.56	5.48	5.48	0.80851	Armadillo-like helical (1);Armadillo-type fold (1);	0.322809	0.38164	N	0.001788	T	0.18130	0.0435	L	0.27053	0.805	0.26947	N	0.966127	B;B;B;B	0.11235	0.004;0.001;0.004;0.001	B;B;B;B	0.12156	0.002;0.007;0.005;0.001	T	0.20472	-1.0274	10	0.12430	T	0.62	-21.5915	7.3308	0.26582	0.1507:0.7264:0.0:0.1229	.	647;608;426;708	E9PCK7;Q5JTH9-2;F5H456;Q5JTH9	.;.;.;RRP12_HUMAN	T	708;608;647;426	ENSP00000360031:A708T;ENSP00000324315:A608T;ENSP00000414863:A647T;ENSP00000446184:A426T	ENSP00000324315:A608T	A	-	1	0	RRP12	99122852	0.674000	0.27549	0.997000	0.53966	0.184000	0.23303	1.207000	0.32333	2.571000	0.86741	0.313000	0.20887	GCC		0.607	RRP12-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049699.4	NM_015179		4	40	0	0	0	1	0	4	40					T	99132862	C	T	99132862	3	4	399	1	0	0	0	0	1	0	0	0	13686	797	28	3	1839	3	RRP12	10	99132862	Missense_Mutation	SNP	C	TCGA-VN-A88I-01A-11D-A34U-08		99132862	36401885	13	19481											
C10orf26	54838	broad.mit.edu	37	chr10	104572793	104572793	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gacgcctgggagacatcgccGcttcacaggtgactcgggca	8	6	14	13	4	1	2	1	1	0	1	3	4	1	2	2	3	0	2	2	3	0	1			TCGA-VN-A88I-01A-11D-A34U-08	TCGA-VN-A88I-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ddf3f3e-d1b5-40c9-8781-91fc7ad54cb3	bd4e531f-404d-4daa-8842-9718b657a281	g.chr10:104572793G>A	ENST00000369889.4	+	4	876	c.734G>A	c.(733-735)cGc>cAc	p.R245H	WBP1L_ENST00000448841.1_Missense_Mutation_p.R266H	NM_017787.4	NP_060257.4	Q9NX94	WBP1L_HUMAN	WW domain binding protein 1-like	245						integral component of membrane (GO:0016021)											AGACATCGCCGCTTCACAGGT	0.542																																						ENST00000369889.4																			0											c.(733-735)cGc>cAc		WW domain binding protein 1-like							69	62	64					10																	104572793		2203	4300	6503	SO:0001583	missense	54838					integral to membrane		g.chr10:104572793G>A	AK056285	CCDS7540.1, CCDS44473.1	10q24.33	2012-05-02	2012-05-02	2012-05-02	ENSG00000166272	ENSG00000166272			23510	protein-coding gene	gene with protein product	"outcome predictor in acute leukemia 1"	611129	"chromosome 10 open reading frame 26"	C10orf26			Standard	NM_017787		Approved	FLJ20154, OPAL1	uc001kwf.4	Q9NX94	OTTHUMG00000018968	ENST00000369889.4:c.734G>A	10.37:g.104572793G>A	ENSP00000358905:p.Arg245His					WBP1L_ENST00000448841.1_Missense_Mutation_p.R266H	p.R245H	NM_017787.4	NP_060257.4	Q9NX94	OPA1L_HUMAN			4	876	+			245					B3KPF4|B7Z6S7|D3DR90|Q1EG70|Q2HIY7|Q5F2G6	Missense_Mutation	SNP	ENST00000369889.4	37	c.734G>A	CCDS7540.1	.	.	.	.	.	.	.	.	.	.	g	19.02	3.745056	0.69418	.	.	ENSG00000166272	ENST00000448841;ENST00000369889	T;T	0.47177	0.85;0.94	6.16	6.16	0.99307	.	0.000000	0.85682	D	0.000000	T	0.39682	0.1087	L	0.35414	1.06	0.80722	D	1	P;P	0.37688	0.605;0.47	B;B	0.28011	0.085;0.039	T	0.35025	-0.9805	10	0.66056	D	0.02	-15.1545	20.8645	0.99794	0.0:0.0:1.0:0.0	.	266;245	Q9NX94-2;Q9NX94	.;OPA1L_HUMAN	H	266;245	ENSP00000414721:R266H;ENSP00000358905:R245H	ENSP00000358905:R245H	R	+	2	0	C10orf26	104562783	1.000000	0.71417	1.000000	0.80357	0.782000	0.44232	7.813000	0.86123	2.937000	0.99478	0.651000	0.88453	CGC		0.542	WBP1L-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000050100.1	NM_017787		4	77	0	0	0	1	0	4	77					A	104572793	G	A	104572793	3	1	399	1	0	0	0	0	1	0	0	0	1599	1087	38	1	842	1	C10orf26	10	104572793	Missense_Mutation	SNP	G	TCGA-VN-A88I-01A-11D-A34U-08	5439931	104572793	30961954	14	19482											
GLI1	2735	broad.mit.edu	37	chr12	57864213	57864213	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gccgctcctccctggcctctCctttcccccctggctcccca	1	10	6	24	1	1	0	0	0	1	0	6	0	5	0	10	2	0	2	10	2	0	1			TCGA-VN-A88I-01A-11D-A34U-08	TCGA-VN-A88I-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ddf3f3e-d1b5-40c9-8781-91fc7ad54cb3	bd4e531f-404d-4daa-8842-9718b657a281	g.chr12:57864213C>T	ENST00000228682.2	+	12	1781	c.1690C>T	c.(1690-1692)Cct>Tct	p.P564S	GLI1_ENST00000543426.1_Missense_Mutation_p.P436S|GLI1_ENST00000546141.1_Missense_Mutation_p.P523S	NM_005269.2	NP_005260.1	P08151	GLI1_HUMAN	GLI family zinc finger 1	564					cerebellar cortex morphogenesis (GO:0021696)|digestive tract morphogenesis (GO:0048546)|dorsal/ventral pattern formation (GO:0009953)|epidermal cell differentiation (GO:0009913)|lung development (GO:0030324)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|notochord regression (GO:0060032)|osteoblast differentiation (GO:0001649)|pituitary gland development (GO:0021983)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|proximal/distal pattern formation (GO:0009954)|regulation of smoothened signaling pathway (GO:0008589)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation (GO:0021938)|spermatogenesis (GO:0007283)|ventral midline development (GO:0007418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|primary cilium (GO:0072372)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(8)|lung(22)|ovary(6)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69			GBM - Glioblastoma multiforme(3;3.99e-32)			CCTGGCCTCTCCTTTCCCCCC	0.647																																					Pancreas(157;841 1936 10503 41495 50368)	ENST00000228682.2																			0				NS(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(8)|lung(22)|ovary(6)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69						c.(1690-1692)Cct>Tct		GLI family zinc finger 1							59	60	60					12																	57864213		2203	4300	6503	SO:0001583	missense	2735				epidermal cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|osteoblast differentiation|positive regulation of DNA replication|positive regulation of smoothened signaling pathway|positive regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	transcription regulatory region DNA binding|zinc ion binding	g.chr12:57864213C>T		CCDS8940.1, CCDS53806.1, CCDS53807.1	12q13.2-q13.3	2013-01-25	2009-03-05	2005-01-14		ENSG00000111087		"Zinc fingers, C2H2-type"	4317	protein-coding gene	gene with protein product		165220	"glioma-associated oncogene homolog 1 (zinc finger protein)", "glioma-associated oncogene family zinc finger 1"	GLI		2850480	Standard	NM_005269		Approved		uc001snx.3	P08151		ENST00000228682.2:c.1690C>T	12.37:g.57864213C>T	ENSP00000228682:p.Pro564Ser					GLI1_ENST00000546141.1_Missense_Mutation_p.P523S|GLI1_ENST00000543426.1_Missense_Mutation_p.P436S	p.P564S	NM_005269.2	NP_005260.1	P08151	GLI1_HUMAN	GBM - Glioblastoma multiforme(3;3.99e-32)		12	1781	+			564					D0EUY3|E9PQQ9|F5H6H8|Q8TDN9	Missense_Mutation	SNP	ENST00000228682.2	37	c.1690C>T	CCDS8940.1	.	.	.	.	.	.	.	.	.	.	C	17.60	3.430113	0.62844	.	.	ENSG00000111087	ENST00000543426;ENST00000228682;ENST00000546141;ENST00000528467	T;T;T;T	0.15372	2.51;2.43;2.53;2.53	3.86	3.86	0.44501	.	0.000000	0.45867	D	0.000332	T	0.34542	0.0901	L	0.56199	1.76	0.80722	D	1	D	0.76494	0.999	D	0.66084	0.941	T	0.05321	-1.0892	10	0.46703	T	0.11	.	15.7645	0.78114	0.0:1.0:0.0:0.0	.	564	P08151	GLI1_HUMAN	S	436;564;523;523	ENSP00000437607:P436S;ENSP00000228682:P564S;ENSP00000441006:P523S;ENSP00000434408:P523S	ENSP00000228682:P564S	P	+	1	0	GLI1	56150480	1.000000	0.71417	0.999000	0.59377	0.827000	0.46813	5.356000	0.66052	2.436000	0.82500	0.491000	0.48974	CCT		0.647	GLI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394197.1	NM_005269		5	42	0	0	0	1	0	5	42					T	57864213	C	T	57864213	3	4	399	1	0	0	0	0	1	0	0	0	6437	855	30	3	1732	3	GLI1	12	57864213	Missense_Mutation	SNP	C	TCGA-VN-A88I-01A-11D-A34U-08		57864213	75987682	15	19483											
TMEM5	10329	broad.mit.edu	37	chr12	64199185	64199186	+	Splice_Site	INS	-	-	T																															gggtttcagcaagagaacagINStaagttctatgcttatttaa																										TCGA-VN-A88I-01A-11D-A34U-08	TCGA-VN-A88I-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ddf3f3e-d1b5-40c9-8781-91fc7ad54cb3	bd4e531f-404d-4daa-8842-9718b657a281	g.chr12:64199185_64199186insT	ENST00000261234.6	+	5	1072		c.e5+1		TMEM5_ENST00000537373.1_Splice_Site	NM_014254.1	NP_055069.1	Q9Y2B1	TMEM5_HUMAN	transmembrane protein 5							integral component of plasma membrane (GO:0005887)				breast(1)|large_intestine(3)|liver(2)|lung(7)|prostate(1)|skin(1)	15		Myeloproliferative disorder(1001;0.0255)	BRCA - Breast invasive adenocarcinoma(9;0.0985)	GBM - Glioblastoma multiforme(28;9e-08)|BRCA - Breast invasive adenocarcinoma(357;0.000175)		CAAGAGAACAGTAAGTTCTATG	0.347																																						ENST00000537373.1																			0				breast(1)|large_intestine(3)|liver(2)|lung(7)|prostate(1)|skin(1)	15						c.e5+1		transmembrane protein 5																																				SO:0001630	splice_region_variant	10329					integral to plasma membrane		g.chr12:64199185_64199186insT	AB015633	CCDS8966.1, CCDS61179.1	12q14.1	2013-05-07			ENSG00000118600	ENSG00000118600			13530	protein-coding gene	gene with protein product		605862				10072769, 23217329	Standard	NM_014254		Approved	HP10481	uc001srq.2	Q9Y2B1	OTTHUMG00000168730	ENST00000261234.6:c.914+1->T	12.37:g.64199186_64199186dupT						TMEM5_ENST00000261234.6_Splice_Site		NM_001278237.1	NP_001265166.1	Q9Y2B1	TMEM5_HUMAN	BRCA - Breast invasive adenocarcinoma(9;0.0985)	GBM - Glioblastoma multiforme(28;9e-08)|BRCA - Breast invasive adenocarcinoma(357;0.000175)	5	1082	+		Myeloproliferative disorder(1001;0.0255)						A8K017|Q6PKD6	Splice_Site	INS	ENST00000261234.6	37		CCDS8966.1																																																																																				0.347	TMEM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400821.1	NM_014254	Intron	7	82						7	82	---	---	---	---	T	64199186	-	T	64199185	8	5	399	1	0	1	1	0	0	0	1	0	16171	1043	36	0	933	0	TMEM5	12	64199185	Splice_Site	INS	-	TCGA-VN-A88I-01A-11D-A34U-08	6334972	64199185	69652710	16	19484											
ZC3H13	23091	broad.mit.edu	37	chr13	46554093	46554093	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cagctgtcatgatagttgctAttactactgtgactatcaat	11	15	7	8	0	2	2	2	2	0	0	2	2	2	2	0	0	4	3	0	0	6	6			TCGA-VN-A88I-01A-11D-A34U-08	TCGA-VN-A88I-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ddf3f3e-d1b5-40c9-8781-91fc7ad54cb3	bd4e531f-404d-4daa-8842-9718b657a281	g.chr13:46554093A>C	ENST00000242848.4	-	11	2115	c.1767T>G	c.(1765-1767)aaT>aaG	p.N589K	ZC3H13_ENST00000282007.3_Missense_Mutation_p.N589K			Q5T200	ZC3HD_HUMAN	zinc finger CCCH-type containing 13	589	Arg/Ser-rich.						metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|lung(25)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	79		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;4.18e-05)		GATAGTTGCTATTACTACTGT	0.383																																					Esophageal Squamous(187;747 2077 11056 31291 44172)	ENST00000242848.4																			0				cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|lung(25)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	79						c.(1765-1767)aaT>aaG		zinc finger CCCH-type containing 13							129	110	117					13																	46554093		2203	4300	6503	SO:0001583	missense	23091						nucleic acid binding|zinc ion binding	g.chr13:46554093A>C	AB020660	CCDS9400.1	13q14.11	2012-07-05	2006-05-15	2006-05-15	ENSG00000123200	ENSG00000123200		"Zinc fingers, CCCH-type domain containing"	20368	protein-coding gene	gene with protein product			"KIAA0853"	KIAA0853		10048485	Standard	XM_005266301		Approved	DKFZp434D1812	uc001vas.1	Q5T200	OTTHUMG00000016863	ENST00000242848.4:c.1767T>G	13.37:g.46554093A>C	ENSP00000242848:p.Asn589Lys					ZC3H13_ENST00000282007.3_Missense_Mutation_p.N589K	p.N589K			Q5T200	ZC3HD_HUMAN	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;4.18e-05)	11	2115	-		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	589			Arg/Ser-rich.		A2A323|O94936|Q5T1Z9|Q7Z7J3|Q8NDT6|Q9H0L6	Missense_Mutation	SNP	ENST00000242848.4	37	c.1767T>G		.	.	.	.	.	.	.	.	.	.	A	12.46	1.945521	0.34377	.	.	ENSG00000123200	ENST00000242848;ENST00000282007;ENST00000431251	T;T	0.28666	2.62;1.6	5.52	4.35	0.52113	.	0.358239	0.26975	N	0.021554	T	0.13286	0.0322	N	0.08118	0	0.80722	D	1	B;B	0.11235	0.002;0.004	B;B	0.13407	0.004;0.009	T	0.08411	-1.0723	10	0.08837	T	0.75	.	8.0314	0.30467	0.8422:0.0:0.1578:0.0	.	589;589	Q5T200;Q5T200-2	ZC3HD_HUMAN;.	K	589;589;405	ENSP00000242848:N589K;ENSP00000282007:N589K	ENSP00000242848:N589K	N	-	3	2	ZC3H13	45452094	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	3.246000	0.51414	0.949000	0.37715	0.528000	0.53228	AAT		0.383	ZC3H13-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000044789.1	NM_015070		4	58	0	0	0	1	0	4	58					C	46554093	A	C	46554093	3	2	399	1	0	0	0	0	1	0	0	0	17562	446	16	5	2955	5	ZC3H13	13	46554093	Missense_Mutation	SNP	A	TCGA-VN-A88I-01A-11D-A34U-08		46554093	68615785	17	19485											
MGA	23269	broad.mit.edu	37	chr15	42003250	42003250	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtttcaccaaagcagaaataCtctcatgtgattctaggaga	14	11	8	8	0	3	3	2	1	2	2	4	4	3	3	1	1	2	2	1	1	4	4			TCGA-VN-A88I-01A-11D-A34U-08	TCGA-VN-A88I-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ddf3f3e-d1b5-40c9-8781-91fc7ad54cb3	bd4e531f-404d-4daa-8842-9718b657a281	g.chr15:42003250C>G	ENST00000570161.1	+	7	2787	c.2787C>G	c.(2785-2787)taC>taG	p.Y929*	MGA_ENST00000389936.4_Nonsense_Mutation_p.Y929*|MGA_ENST00000566586.1_Nonsense_Mutation_p.Y929*|MGA_ENST00000219905.7_Nonsense_Mutation_p.Y929*|MGA_ENST00000545763.1_Nonsense_Mutation_p.Y929*			O43451	MGA_HUMAN	MGA, MAX dimerization protein	0					carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)			NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)	Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	AGCAGAAATACTCTCATGTGA	0.378																																						ENST00000219905.7																			0				NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95						c.(2785-2787)taC>taG		MGA, MAX dimerization protein							144	141	142					15																	42003250		1869	4112	5981	SO:0001587	stop_gained	23269					MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr15:42003250C>G	AB011090	CCDS55959.1, CCDS55960.1	15q15	2012-11-15	2012-11-15		ENSG00000174197	ENSG00000174197		"MAX dimerization proteins", "T-boxes"	14010	protein-coding gene	gene with protein product			"MAX gene associated"				Standard	NM_001080541		Approved	KIAA0518, MAD5, MXD5, FLJ12634	uc010ucy.2	Q8IWI9		ENST00000570161.1:c.2787C>G	15.37:g.42003250C>G	ENSP00000457035:p.Tyr929*					MGA_ENST00000545763.1_Nonsense_Mutation_p.Y929*|MGA_ENST00000566586.1_Nonsense_Mutation_p.Y929*|MGA_ENST00000570161.1_Nonsense_Mutation_p.Y929*|MGA_ENST00000389936.4_Nonsense_Mutation_p.Y929*	p.Y929*	NM_001164273.1	NP_001157745.1	Q8IWI9	MGAP_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)	8	2968	+		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)	929					Q0VAX6|Q75ME7|Q86UM5	Nonsense_Mutation	SNP	ENST00000570161.1	37	c.2787C>G	CCDS55959.1	.	.	.	.	.	.	.	.	.	.	C	37	6.051819	0.97236	.	.	ENSG00000174197	ENST00000219905;ENST00000389936;ENST00000545763	.	.	.	5.84	-6.25	0.02039	.	1.098990	0.06789	N	0.786718	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06891	T	0.86	.	5.9871	0.19440	0.3916:0.1545:0.0:0.4538	.	.	.	.	X	929	.	ENSP00000219905:Y929X	Y	+	3	2	MGA	39790542	0.000000	0.05858	0.005000	0.12908	0.818000	0.46254	-1.633000	0.02022	-0.710000	0.05001	0.655000	0.94253	TAC		0.378	MGA-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000420229.1	NM_001164273.1		12	100	0	0	0	1	0	12	100					G	42003250	C	G	42003250	4	3	399	1	0	0	0	0	0	1	0	0	9540	576	20	5	2813	5	MGA	15	42003250	Nonsense_Mutation	SNP	C	TCGA-VN-A88I-01A-11D-A34U-08		42003250	60528142	18	19486											
TNRC6A	27327	broad.mit.edu	37	chr16	24801953	24801953	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	atgagcaaagcagtgtgtggGccaaaacaggaggtacagtg	14	6	15	6	0	0	1	0	1	0	0	0	2	0	2	1	3	4	3	1	3	4	1			TCGA-VN-A88I-01A-11D-A34U-08	TCGA-VN-A88I-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ddf3f3e-d1b5-40c9-8781-91fc7ad54cb3	bd4e531f-404d-4daa-8842-9718b657a281	g.chr16:24801953G>A	ENST00000395799.3	+	6	2119	c.1990G>A	c.(1990-1992)Gcc>Acc	p.A664T	TNRC6A_ENST00000315183.7_Missense_Mutation_p.A664T	NM_014494.2	NP_055309.2	Q8NDV7	TNR6A_HUMAN	trinucleotide repeat containing 6A	664	Interaction with argonaute family proteins.|Sufficient for interaction with AGO1 and AGO4.|Sufficient for interaction with AGO2.				cellular response to starvation (GO:0009267)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|micro-ribonucleoprotein complex (GO:0035068)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|liver(1)|lung(20)|ovary(3)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64				GBM - Glioblastoma multiforme(48;0.0394)		CAGTGTGTGGGCCAAAACAGG	0.463																																						ENST00000395799.3																			0				breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|liver(1)|lung(20)|ovary(3)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64						c.(1990-1992)Gcc>Acc		trinucleotide repeat containing 6A							88	79	82					16																	24801953		2197	4300	6497	SO:0001583	missense	27327				negative regulation of translation involved in gene silencing by miRNA	cytoplasmic mRNA processing body|micro-ribonucleoprotein complex	nucleotide binding|RNA binding	g.chr16:24801953G>A	U80739	CCDS10624.2	16p11.2	2009-09-22	2004-12-17	2004-12-17	ENSG00000090905	ENSG00000090905		"Trinucleotide (CAG) repeat containing"	11969	protein-coding gene	gene with protein product		610739	"trinucleotide repeat containing 6"	TNRC6		9225980	Standard	NM_014494		Approved	CAGH26, KIAA1460, GW182	uc002dmm.3	Q8NDV7	OTTHUMG00000096999	ENST00000395799.3:c.1990G>A	16.37:g.24801953G>A	ENSP00000379144:p.Ala664Thr					TNRC6A_ENST00000315183.7_Missense_Mutation_p.A664T	p.A664T	NM_014494.2	NP_055309.2	Q8NDV7	TNR6A_HUMAN		GBM - Glioblastoma multiforme(48;0.0394)	6	2119	+			664			Sufficient for interaction with EIF2C1 and EIF2C4.|Sufficient for interaction with EIF2C2.		C9JAR8|O15408|Q658L5|Q6NVB5|Q8NEZ0|Q8TBT8|Q8TCR0|Q9NV59|Q9P268	Missense_Mutation	SNP	ENST00000395799.3	37	c.1990G>A	CCDS10624.2	.	.	.	.	.	.	.	.	.	.	G	20.4	3.984666	0.74474	.	.	ENSG00000090905	ENST00000315183;ENST00000395799	T;T	0.14516	2.5;2.54	5.67	5.67	0.87782	.	0.060017	0.64402	D	0.000002	T	0.37100	0.0991	M	0.63843	1.955	0.80722	D	1	P;D;D	0.89917	0.941;1.0;0.979	P;D;P	0.87578	0.888;0.998;0.604	T	0.00907	-1.1519	10	0.34782	T	0.22	-6.1225	19.7587	0.96304	0.0:0.0:1.0:0.0	.	411;664;664	Q8NDV7-2;Q8NDV7-6;Q8NDV7	.;.;TNR6A_HUMAN	T	664	ENSP00000326900:A664T;ENSP00000379144:A664T	ENSP00000326900:A664T	A	+	1	0	TNRC6A	24709454	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.756000	0.62205	2.672000	0.90937	0.557000	0.71058	GCC		0.463	TNRC6A-001	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214081.1	NM_020847		3	33	0	0	0	1	0	3	33					A	24801953	G	A	24801953	3	1	399	1	0	0	0	0	1	0	0	0	16337	1203	42	3	2012	3	TNRC6A	16	24801953	Missense_Mutation	SNP	G	TCGA-VN-A88I-01A-11D-A34U-08		24801953	65552800	19	19487											
ATP2A1	487	broad.mit.edu	37	chr16	28911948	28911948	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gggcatgctggaccctccgcGcaaggaggtcacgggctcca	7	5	15	14	3	1	0	1	0	0	0	3	2	3	2	3	5	1	4	3	5	1	0			TCGA-VN-A88I-01A-11D-A34U-08	TCGA-VN-A88I-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ddf3f3e-d1b5-40c9-8781-91fc7ad54cb3	bd4e531f-404d-4daa-8842-9718b657a281	g.chr16:28911948G>A	ENST00000357084.3	+	15	2078	c.1811G>A	c.(1810-1812)cGc>cAc	p.R604H	ATP2A1_ENST00000395503.4_Missense_Mutation_p.R604H|ATP2A1_ENST00000536376.1_Missense_Mutation_p.R479H	NM_173201.3	NP_775293.1	O14983	AT2A1_HUMAN	ATPase, Ca++ transporting, cardiac muscle, fast twitch 1	604					apoptotic mitochondrial changes (GO:0008637)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|ion transmembrane transport (GO:0034220)|maintenance of mitochondrion location (GO:0051659)|negative regulation of endoplasmic reticulum calcium ion concentration (GO:0032471)|negative regulation of striated muscle contraction (GO:0045988)|positive regulation of endoplasmic reticulum calcium ion concentration (GO:0032470)|positive regulation of fast-twitch skeletal muscle fiber contraction (GO:0031448)|positive regulation of mitochondrial calcium ion concentration (GO:0051561)|regulation of striated muscle contraction (GO:0006942)|relaxation of skeletal muscle (GO:0090076)|response to endoplasmic reticulum stress (GO:0034976)|transmembrane transport (GO:0055085)	calcium channel complex (GO:0034704)|endoplasmic reticulum membrane (GO:0005789)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|H zone (GO:0031673)|I band (GO:0031674)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|platelet dense tubular network membrane (GO:0031095)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calcium-transporting ATPase activity (GO:0005388)|protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	38						GACCCTCCGCGCAAGGAGGTC	0.622																																						ENST00000395503.4																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	38						c.(1810-1812)cGc>cAc		ATPase, Ca++ transporting, cardiac muscle, fast twitch 1							84	71	76					16																	28911948		2197	4300	6497	SO:0001583	missense	487				apoptosis in response to endoplasmic reticulum stress|apoptotic mitochondrial changes|ATP biosynthetic process|calcium ion import|elevation of endoplasmic reticulum calcium ion concentration|elevation of mitochondrial calcium ion concentration|maintenance of mitochondrion location|negative regulation of striated muscle contraction|platelet activation|positive regulation of fast-twitch skeletal muscle fiber contraction|reduction of endoplasmic reticulum calcium ion concentration|relaxation of skeletal muscle|response to endoplasmic reticulum stress	endoplasmic reticulum membrane|ER-Golgi intermediate compartment|H zone|I band|microsome|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum|sarcoplasmic reticulum membrane	ATP binding|calcium ion binding|calcium-transporting ATPase activity|protein homodimerization activity	g.chr16:28911948G>A		CCDS10643.1, CCDS42139.1, CCDS66997.1	16p12.1	2012-10-22			ENSG00000196296	ENSG00000196296	3.6.3.8	"ATPases / P-type"	811	protein-coding gene	gene with protein product	"sarcoplasmic/endoplasmic reticulum calcium ATPase 1", "calcium pump 1"	108730		ATP2A			Standard	NM_004320		Approved	SERCA1	uc002dro.1	O14983	OTTHUMG00000131760	ENST00000357084.3:c.1811G>A	16.37:g.28911948G>A	ENSP00000349595:p.Arg604His					ATP2A1_ENST00000536376.1_Missense_Mutation_p.R479H|ATP2A1_ENST00000357084.3_Missense_Mutation_p.R604H	p.R604H	NM_004320.4	NP_004311.1	O14983	AT2A1_HUMAN			15	1995	+			604					A8K5J9|B3KY17|O14984	Missense_Mutation	SNP	ENST00000357084.3	37	c.1811G>A	CCDS10643.1	.	.	.	.	.	.	.	.	.	.	G	29.8	5.036396	0.93630	.	.	ENSG00000196296	ENST00000357084;ENST00000395503;ENST00000395498;ENST00000536376	D;D;D	0.96427	-4.01;-4.01;-4.01	5.31	5.31	0.75309	Haloacid dehalogenase-like hydrolase (1);HAD-like domain (1);	0.000000	0.85682	D	0.000000	D	0.98994	0.9657	H	0.98333	4.205	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.995;0.98	D	0.99331	1.0909	10	0.87932	D	0	.	17.7855	0.88536	0.0:0.0:1.0:0.0	.	479;604;604	B3KY17;O14983;O14983-2	.;AT2A1_HUMAN;.	H	604;604;641;479	ENSP00000349595:R604H;ENSP00000378879:R604H;ENSP00000443101:R479H	ENSP00000349595:R604H	R	+	2	0	ATP2A1	28819449	1.000000	0.71417	0.450000	0.26969	0.713000	0.41058	9.783000	0.99037	2.493000	0.84123	0.485000	0.47835	CGC		0.622	ATP2A1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254686.2	NM_004320		3	56	0	0	0	1	0	3	56					A	28911948	G	A	28911948	3	1	399	1	0	0	0	0	1	0	0	0	1136	1087	38	1	1869	1	ATP2A1	16	28911948	Missense_Mutation	SNP	G	TCGA-VN-A88I-01A-11D-A34U-08	4109995	28911948	61442805	20	19488											
UBB	7314	broad.mit.edu	37	chr17	16285560	16285560	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggataaagaaggcatcccTcccgaccagcagaggctcat	13	5	10	13	1	1	2	1	0	0	2	3	4	3	3	3	3	1	3	3	3	3	1			TCGA-VN-A88I-01A-11D-A34U-08	TCGA-VN-A88I-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ddf3f3e-d1b5-40c9-8781-91fc7ad54cb3	bd4e531f-404d-4daa-8842-9718b657a281	g.chr17:16285560T>C	ENST00000395837.1	+	2	520	c.339T>C	c.(337-339)ccT>ccC	p.P113P	UBB_ENST00000395839.1_Silent_p.P113P|RP11-138I1.4_ENST00000583934.1_RNA|UBB_ENST00000578649.1_Intron|UBB_ENST00000535788.1_Intron|UBB_ENST00000302182.3_Silent_p.P113P	NM_001281718.1|NM_001281720.1	NP_001268647.1|NP_001268649.1	P0CG47	UBB_HUMAN	ubiquitin B	113	Ubiquitin-like 2. {ECO:0000255|PROSITE- ProRule:PRU00214}.		GMQIFVKTLTGKTITLEVEPSDTIENVKAKIQDKEGIPPDQ QRLIFAGKQLEDGRTLSDYNIQKESTLHLVLRLRGGMQIFV KTLTGKTITLEVEPSDTIENVKAKIQDKEGIPPDQQRLIFA GKQLEDGRTLSDYNIQKESTLHLVLRLRGGC -> YADLRE DPDRQDHHPGSGAQ (in UBB(+1); loss of polyubiquitination; impairs the ubiquitin-proteasome pathway; refractory to disassembly by DUBs; slow degradation by UCHL3).		activation of MAPK activity (GO:0000187)|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|carbohydrate metabolic process (GO:0005975)|cellular response to hypoxia (GO:0071456)|cytokine-mediated signaling pathway (GO:0019221)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|endosomal transport (GO:0016197)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|intracellular transport of virus (GO:0075733)|ion transmembrane transport (GO:0034220)|JNK cascade (GO:0007254)|membrane organization (GO:0061024)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of type I interferon production (GO:0032480)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of apoptotic process (GO:0043065)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of type I interferon production (GO:0032479)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|stress-activated MAPK cascade (GO:0051403)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|transmembrane transport (GO:0055085)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral protein processing (GO:0019082)|virion assembly (GO:0019068)	cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16				UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)		AAGGCATCCCTCCCGACCAGC	0.557																																					Melanoma(163;1126 3406 34901)	ENST00000302182.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						c.(337-339)ccT>ccC		ubiquitin B							115	112	113					17																	16285560		2203	4300	6503	SO:0001819	synonymous_variant	7314				activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|viral reproduction	cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane	protein binding	g.chr17:16285560T>C		CCDS11177.1	17p12-p11.2	2010-11-25			ENSG00000170315	ENSG00000170315			12463	protein-coding gene	gene with protein product	"polyubiquitin B"	191339				2154095	Standard	NM_018955		Approved	MGC8385, FLJ25987	uc002gpx.3	P0CG47	OTTHUMG00000058987	ENST00000395837.1:c.339T>C	17.37:g.16285560T>C						RP11-138I1.4_ENST00000583934.1_RNA|UBB_ENST00000395837.1_Silent_p.P113P|UBB_ENST00000395839.1_Silent_p.P113P|UBB_ENST00000535788.1_Intron|UBB_ENST00000578649.1_Intron	p.P113P	NM_018955.2	NP_061828.1	P0CG47	UBB_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)	2	731	+			113			Ubiquitin-like 2.		P02248|P02249|P02250|P62988|Q29120|Q6LBL4|Q6LDU5|Q8WYN8|Q91887|Q91888|Q9BWD6|Q9BX98|Q9UEF2|Q9UEG1|Q9UEK8|Q9UPK7	Silent	SNP	ENST00000395837.1	37	c.339T>C	CCDS11177.1																																																																																				0.557	UBB-002	NOVEL	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000130459.1	NM_018955		4	114	0	0	0	1	0	4	114					C	16285560	T	C	16285560	2	2	399	1	0	0	0	0	0	0	0	1	16838	1538	54	4		4	UBB	17	16285560	Silent	SNP	T	TCGA-VN-A88I-01A-11D-A34U-08		16285560	64909650	21	19489											
TCEB3C	728929	broad.mit.edu	37	chr18	44549171	44549171	+	Silent	SNP	G	G	A																															gcattgtctttctctgtgcgGtacggctgatcgggcgtcca																										TCGA-VN-A88I-01A-11D-A34U-08	TCGA-VN-A88I-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ddf3f3e-d1b5-40c9-8781-91fc7ad54cb3	bd4e531f-404d-4daa-8842-9718b657a281	g.chr18:44549171G>A	ENST00000451265.1	-	1	1363	c.1128C>T	c.(1126-1128)taC>taT	p.Y376Y	KATNAL2_ENST00000245121.5_Intron|KATNAL2_ENST00000356157.7_Intron|KATNAL2_ENST00000592005.1_Intron	NM_001100817.1	NP_001094287.1	Q3SY89	EA3L1_HUMAN	transcription elongation factor B polypeptide 3C-like	376	Activation domain. {ECO:0000250}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)			central_nervous_system(1)|lung(1)|prostate(1)	3						TCTCTGTGCGGTACGGCTGAT	0.577																																						ENST00000451265.1																			0				central_nervous_system(1)|lung(1)|prostate(1)	3						c.(1126-1128)taC>taT		transcription elongation factor B polypeptide 3C-like							234	199	211					18																	44549171		1723	3422	5145	SO:0001819	synonymous_variant	728929							g.chr18:44549171G>A			18q21.1	2007-07-10				ENSG00000275553			31007	protein-coding gene	gene with protein product							Standard	NM_001100817		Approved	HsT828		Q3SY89		ENST00000451265.1:c.1128C>T	18.37:g.44549171G>A						KATNAL2_ENST00000245121.5_Intron|KATNAL2_ENST00000592005.1_Intron|KATNAL2_ENST00000356157.7_Intron	p.Y376Y	NM_001100817.1	NP_001094287.1					1	1363	-								Q3MI93	Silent	SNP	ENST00000451265.1	37	c.1128C>T	CCDS42433.1																																																																																				0.577	TCEB3CL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451071.1	XM_001132059		12	397	0	0	0	1	0	12	397					A	44549171	G	A	44549171	2	1	399	1	0	0	0	0	0	0	0	1	15680	1256	44	3		3	TCEB3C	18	44549171	Silent	SNP	G	TCGA-VN-A88I-01A-11D-A34U-08		44549171	33528077	22	19490	98	2									
TCEB3C	728929	broad.mit.edu	37	chr18	44549172	44549172	+	Missense_Mutation	SNP	T	T	C																															cattgtctttctctgtgcggTacggctgatcgggcgtccac																										TCGA-VN-A88I-01A-11D-A34U-08	TCGA-VN-A88I-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ddf3f3e-d1b5-40c9-8781-91fc7ad54cb3	bd4e531f-404d-4daa-8842-9718b657a281	g.chr18:44549172T>C	ENST00000451265.1	-	1	1362	c.1127A>G	c.(1126-1128)tAc>tGc	p.Y376C	KATNAL2_ENST00000245121.5_Intron|KATNAL2_ENST00000356157.7_Intron|KATNAL2_ENST00000592005.1_Intron	NM_001100817.1	NP_001094287.1	Q3SY89	EA3L1_HUMAN	transcription elongation factor B polypeptide 3C-like	376	Activation domain. {ECO:0000250}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)			central_nervous_system(1)|lung(1)|prostate(1)	3						CTCTGTGCGGTACGGCTGATC	0.577																																						ENST00000451265.1																			0				central_nervous_system(1)|lung(1)|prostate(1)	3						c.(1126-1128)tAc>tGc		transcription elongation factor B polypeptide 3C-like							238	203	214					18																	44549172		1725	3426	5151	SO:0001583	missense	728929							g.chr18:44549172T>C			18q21.1	2007-07-10				ENSG00000275553			31007	protein-coding gene	gene with protein product							Standard	NM_001100817		Approved	HsT828		Q3SY89		ENST00000451265.1:c.1127A>G	18.37:g.44549172T>C	ENSP00000409932:p.Tyr376Cys					KATNAL2_ENST00000245121.5_Intron|KATNAL2_ENST00000592005.1_Intron|KATNAL2_ENST00000356157.7_Intron	p.Y376C	NM_001100817.1	NP_001094287.1					1	1362	-								Q3MI93	Missense_Mutation	SNP	ENST00000451265.1	37	c.1127A>G	CCDS42433.1	.	.	.	.	.	.	.	.	.	.	T	11.03	1.519461	0.27211	.	.	ENSG00000234298	ENST00000451265	T	0.31247	1.5	1.5	-1.56	0.08532	.	0.747399	0.11440	N	0.563885	T	0.22166	0.0534	L	0.42487	1.325	0.23685	N	0.997116	B	0.24132	0.098	B	0.30716	0.119	T	0.33189	-0.9878	10	0.48119	T	0.1	0.0182	2.4922	0.04613	0.234:0.1674:0.0:0.5986	.	376	Q3SY89	EA3L1_HUMAN	C	376	ENSP00000409932:Y376C	ENSP00000409932:Y376C	Y	-	2	0	TCEB3CL	42803170	1.000000	0.71417	0.000000	0.03702	0.000000	0.00434	3.346000	0.52190	-0.383000	0.07858	-0.451000	0.05528	TAC		0.577	TCEB3CL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451071.1	XM_001132059		12	404	0	0	0	1	0	12	404					C	44549172	T	C	44549172	3	2	399	1	0	0	0	0	1	0	0	0	15680	1638	57	4	517	4	TCEB3C	18	44549172	Missense_Mutation	SNP	T	TCGA-VN-A88I-01A-11D-A34U-08	1	44549172	33528076	23	19491	98	2									
ZNF99	7652	broad.mit.edu	37	chr19	22940632	22940632	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gtatgaattatcttatgtttCctaagggctgagaaatggtt	11	16	10	4	0	1	2	0	2	1	1	2	3	2	2	1	2	0	4	1	2	6	6	rs544144025		TCGA-VN-A88I-01A-11D-A34U-08	TCGA-VN-A88I-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ddf3f3e-d1b5-40c9-8781-91fc7ad54cb3	bd4e531f-404d-4daa-8842-9718b657a281	g.chr19:22940632C>T	ENST00000596209.1	-	4	2169	c.2079G>A	c.(2077-2079)agG>agA	p.R693R	ZNF99_ENST00000397104.3_Silent_p.R602R|CTC-451A6.4_ENST00000442497.2_lincRNA	NM_001080409.2	NP_001073878.2	A8MXY4	ZNF99_HUMAN	zinc finger protein 99	693					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				TCTTATGTTTCCTAAGGGCTG	0.373																																						ENST00000397104.3																			0				NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124						c.(1804-1806)agG>agA		zinc finger protein 99							45	47	46					19																	22940632		2063	4220	6283	SO:0001819	synonymous_variant	7652							g.chr19:22940632C>T	BC021822	CCDS59369.1	19p12	2013-01-08	2006-01-17		ENSG00000213973	ENSG00000213973		"Zinc fingers, C2H2-type", "-"	13175	protein-coding gene	gene with protein product		603981	"zinc finger protein 99 (F8281)", "chromosome 19 open reading frame 9"	C19orf9			Standard	NM_001080409		Approved	MGC24986	uc021urt.1	A8MXY4		ENST00000596209.1:c.2079G>A	19.37:g.22940632C>T						ZNF99_ENST00000596209.1_Silent_p.R693R	p.R602R							5	1805	-		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)						M0R335	Silent	SNP	ENST00000596209.1	37	c.1806G>A	CCDS59369.1																																																																																				0.373	ZNF99-001	NOVEL	not_best_in_genome_evidence|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000464591.1	XM_065124		4	67	0	0	0	1	0	4	67					T	22940632	C	T	22940632	2	4	399	1	0	0	0	0	0	0	0	1	18201	854	30	3		3	ZNF99	19	22940632	Silent	SNP	C	TCGA-VN-A88I-01A-11D-A34U-08		22940632	36188351	24	19492											
ZNF585B	92285	broad.mit.edu	37	chr19	37677872	37677873	+	Frame_Shift_Ins	INS	-	-	T																															aaaaggattttccacattcaINSttgcacttatagggcttctc																										TCGA-VN-A88I-01A-11D-A34U-08	TCGA-VN-A88I-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ddf3f3e-d1b5-40c9-8781-91fc7ad54cb3	bd4e531f-404d-4daa-8842-9718b657a281	g.chr19:37677872_37677873insT	ENST00000532828.2	-	5	817_818	c.566_567insA	c.(565-567)aatfs	p.N189fs	ZNF585B_ENST00000527838.1_Intron|ZNF585B_ENST00000531805.1_Frame_Shift_Ins_p.N134fs|ZNF585B_ENST00000312908.5_Intron|CTC-454I21.3_ENST00000585860.2_Intron	NM_152279.3	NP_689492.3	Q52M93	Z585B_HUMAN	zinc finger protein 585B	189					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(3)|endometrium(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)	29			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TTCCACATTCATTGCACTTATA	0.376																																					Melanoma(93;882 1454 18863 28917 48427)	ENST00000532828.2																			0				NS(1)|breast(3)|endometrium(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)	29						c.(565-567)agafs		zinc finger protein 585B																																				SO:0001589	frameshift_variant	92285				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	g.chr19:37677872_37677873insT	AK027834	CCDS12500.1	19q13.13	2013-01-08				ENSG00000245680		"Zinc fingers, C2H2-type", "-"	30948	protein-coding gene	gene with protein product						12477932	Standard	NM_152279		Approved	FLJ14928, SZFP41	uc002ofq.3	Q52M93		ENST00000532828.2:c.567dupA	19.37:g.37677874_37677874dupT	ENSP00000433773:p.Asn189fs					CTC-454I21.3_ENST00000585860.2_Intron|ZNF585B_ENST00000531805.1_Frame_Shift_Ins_p.R134fs|ZNF585B_ENST00000312908.5_Intron|ZNF585B_ENST00000527838.1_Intron	p.R189fs	NM_152279.3	NP_689492.3	Q52M93	Z585B_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		5	817_818	-			189					Q8IZD3|Q96JW6	Frame_Shift_Ins	INS	ENST00000532828.2	37	c.566_567insA	CCDS12500.1																																																																																				0.376	ZNF585B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388272.2	NM_152279		15	165						15	165	---	---	---	---	T	37677873	-	T	37677872	7	5	399	1	0	1	1	0	0	0	0	0	18015	214	8	0	1746	0	ZNF585B	19	37677872	Frame_Shift_Ins	INS	-	TCGA-VN-A88I-01A-11D-A34U-08	14737240	37677872	21451111	25	19493											
ZNF780A	284323	broad.mit.edu	37	chr19	40581529	40581529	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cttacattcatatggttttaCaccagaatgaatactctgat	13	15	5	8	0	2	3	1	2	1	1	2	3	2	3	1	1	3	1	1	1	6	6			TCGA-VN-A88I-01A-11D-A34U-08	TCGA-VN-A88I-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ddf3f3e-d1b5-40c9-8781-91fc7ad54cb3	bd4e531f-404d-4daa-8842-9718b657a281	g.chr19:40581529C>T	ENST00000595687.2	-	6	1029	c.820G>A	c.(820-822)Gta>Ata	p.V274I	ZNF780A_ENST00000594395.1_Missense_Mutation_p.V275I|AC005614.5_ENST00000595508.1_RNA|ZNF780A_ENST00000450241.2_Missense_Mutation_p.V240I|ZNF780A_ENST00000455521.1_Missense_Mutation_p.V275I|ZNF780A_ENST00000414720.2_Intron|ZNF780A_ENST00000340963.5_Missense_Mutation_p.V274I	NM_001010880.2	NP_001010880.2	O75290	Z780A_HUMAN	zinc finger protein 780A	274					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|upper_aerodigestive_tract(3)|urinary_tract(1)	31	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					TATGGTTTTACACCAGAATGA	0.388																																						ENST00000450241.2																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|upper_aerodigestive_tract(3)|urinary_tract(1)	31						c.(718-720)Gta>Ata		zinc finger protein 780A							172	176	174					19																	40581529		2203	4300	6503	SO:0001583	missense	284323				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:40581529C>T	AK091274	CCDS33026.2, CCDS46078.1, CCDS46079.1	19q13.2	2014-02-12	2006-08-15		ENSG00000197782	ENSG00000197782		"Zinc fingers, C2H2-type", "-"	27603	protein-coding gene	gene with protein product							Standard	NM_001142577		Approved	ZNF780	uc010xvh.2	O75290	OTTHUMG00000155119	ENST00000595687.2:c.820G>A	19.37:g.40581529C>T	ENSP00000472189:p.Val274Ile					ZNF780A_ENST00000340963.5_Missense_Mutation_p.V274I|ZNF780A_ENST00000595687.2_Missense_Mutation_p.V274I|ZNF780A_ENST00000594395.1_Missense_Mutation_p.V275I|ZNF780A_ENST00000455521.1_Missense_Mutation_p.V275I|ZNF780A_ENST00000414720.2_Intron|AC005614.5_ENST00000595508.1_RNA	p.V240I			O75290	Z780A_HUMAN			6	1029	-	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)		274					E9PB48|Q6ZN87	Missense_Mutation	SNP	ENST00000595687.2	37	c.718G>A	CCDS33026.2	.	.	.	.	.	.	.	.	.	.	C	18.01	3.528602	0.64860	.	.	ENSG00000197782	ENST00000450241;ENST00000455521;ENST00000340963	T;T	0.18810	2.19;2.19	1.92	-0.891	0.10573	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.13200	0.0320	N	0.17674	0.51	0.25023	N	0.991324	P;P	0.35684	0.514;0.515	B;B	0.38156	0.216;0.266	T	0.24764	-1.0151	9	0.72032	D	0.01	.	6.0621	0.19844	0.0:0.6973:0.0:0.3027	.	275;274	E9PB48;O75290	.;Z780A_HUMAN	I	274;275;274	ENSP00000400997:V275I;ENSP00000341507:V274I	ENSP00000341507:V274I	V	-	1	0	ZNF780A	45273369	0.000000	0.05858	0.569000	0.28460	0.853000	0.48598	0.808000	0.27154	-0.307000	0.08804	0.305000	0.20034	GTA		0.388	ZNF780A-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000470066.1	NM_001010880		5	263	0	0	0	1	0	5	263					T	40581529	C	T	40581529	3	4	399	1	0	0	0	0	1	0	0	0	18149	478	17	3	1236	3	ZNF780A	19	40581529	Missense_Mutation	SNP	C	TCGA-VN-A88I-01A-11D-A34U-08	2903657	40581529	18547454	26	19494											
NMNAT1	64802	broad.mit.edu	37	chr1	10032159	10032159	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	attccgagaagactgaagtgGttctccttgcttgtggttca	8	14	11	8	1	2	3	1	1	1	2	4	4	3	3	2	2	1	3	2	2	2	5			TCGA-VN-A88K-01A-11D-A34U-08	TCGA-VN-A88K-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89d2e3cb-1a54-4f5b-93e9-e2ce8cb8074c	6b34e884-089c-4069-97e8-1cf89b756557	g.chr1:10032159G>C	ENST00000377205.1	+	2	172	c.28G>C	c.(28-30)Gtt>Ctt	p.V10L	NMNAT1_ENST00000492735.1_3'UTR|NMNAT1_ENST00000403197.1_Missense_Mutation_p.V10L	NM_022787.3	NP_073624.2	Q9HAN9	NMNA1_HUMAN	nicotinamide nucleotide adenylyltransferase 1	10					NAD biosynthetic process (GO:0009435)|NAD metabolic process (GO:0019674)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|nicotinamide-nucleotide adenylyltransferase activity (GO:0000309)|nicotinate-nucleotide adenylyltransferase activity (GO:0004515)			large_intestine(2)|lung(2)|stomach(1)	5		all_lung(284;0.000407)|Renal(390;0.000469)|Lung NSC(185;0.000577)|Colorectal(325;0.0062)|Breast(348;0.00686)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.31e-08)|COAD - Colon adenocarcinoma(227;1.54e-05)|Kidney(185;0.00028)|BRCA - Breast invasive adenocarcinoma(304;0.00032)|KIRC - Kidney renal clear cell carcinoma(229;0.00101)|STAD - Stomach adenocarcinoma(132;0.00908)|READ - Rectum adenocarcinoma(331;0.0419)		GACTGAAGTGGTTCTCCTTGC	0.428																																						ENST00000377205.1																			0				large_intestine(2)|lung(2)|stomach(1)	5						c.(28-30)Gtt>Ctt		nicotinamide nucleotide adenylyltransferase 1							219	219	219					1																	10032159		2203	4300	6503	SO:0001583	missense	64802				water-soluble vitamin metabolic process	nucleoplasm	ATP binding|nicotinamide-nucleotide adenylyltransferase activity|nicotinate-nucleotide adenylyltransferase activity|protein binding	g.chr1:10032159G>C	AF312734	CCDS108.1, CCDS72698.1	1p36.22	2014-01-28	2003-04-30	2003-05-02	ENSG00000173614	ENSG00000173614	2.7.7.1		17877	protein-coding gene	gene with protein product		608700	"nicotinamide nucleotide adenylyltransferase", "Leber congenital amaurosis 9", "Leber's congenital amaurosis 9"	LCA9		11248244, 11027696, 22842227	Standard	XR_244792		Approved	NMNAT, PNAT1	uc001aqp.3	Q9HAN9	OTTHUMG00000001799	ENST00000377205.1:c.28G>C	1.37:g.10032159G>C	ENSP00000366410:p.Val10Leu					NMNAT1_ENST00000492735.1_3'UTR|NMNAT1_ENST00000403197.1_Missense_Mutation_p.V10L	p.V10L	NM_022787.3	NP_073624.2	Q9HAN9	NMNA1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.31e-08)|COAD - Colon adenocarcinoma(227;1.54e-05)|Kidney(185;0.00028)|BRCA - Breast invasive adenocarcinoma(304;0.00032)|KIRC - Kidney renal clear cell carcinoma(229;0.00101)|STAD - Stomach adenocarcinoma(132;0.00908)|READ - Rectum adenocarcinoma(331;0.0419)	2	172	+		all_lung(284;0.000407)|Renal(390;0.000469)|Lung NSC(185;0.000577)|Colorectal(325;0.0062)|Breast(348;0.00686)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)	10					B1AN63|Q8TAE9|Q9H247|Q9H6B6	Missense_Mutation	SNP	ENST00000377205.1	37	c.28G>C	CCDS108.1	.	.	.	.	.	.	.	.	.	.	g	18.22	3.575854	0.65878	.	.	ENSG00000173614	ENST00000403197;ENST00000377205	D;D	0.97811	-4.55;-4.55	3.92	3.92	0.45320	Rossmann-like alpha/beta/alpha sandwich fold (1);	0.000000	0.85682	D	0.000000	D	0.98018	0.9347	M	0.63208	1.945	0.58432	D	0.999999	D	0.76494	0.999	D	0.65323	0.934	D	0.97764	1.0222	10	0.38643	T	0.18	-3.3777	16.5309	0.84359	0.0:0.0:1.0:0.0	.	10	Q9HAN9	NMNA1_HUMAN	L	10	ENSP00000385131:V10L;ENSP00000366410:V10L	ENSP00000366410:V10L	V	+	1	0	NMNAT1	9954746	1.000000	0.71417	1.000000	0.80357	0.774000	0.43823	7.297000	0.78799	2.181000	0.69327	0.454000	0.30748	GTT		0.428	NMNAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005029.1			79	140	0	0	0	1	0	79	140					C	10032159	G	C	10032159	3	2	400	1	0	0	0	0	1	0	0	0	10498	1261	44	5	30	5	NMNAT1	1	10032159	Missense_Mutation	SNP	G	TCGA-VN-A88K-01A-11D-A34U-08		10032159	239218462	1	19495											
COL9A2	1298	broad.mit.edu	37	chr1	40780025	40780025	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aagaggataaagcactcaccGgagggccagcttttccaggg	12	6	13	10	1	1	1	1	0	0	1	2	3	2	3	3	4	2	2	3	4	3	3			TCGA-VN-A88K-01A-11D-A34U-08	TCGA-VN-A88K-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89d2e3cb-1a54-4f5b-93e9-e2ce8cb8074c	6b34e884-089c-4069-97e8-1cf89b756557	g.chr1:40780025G>A	ENST00000372748.3	-	3	281	c.185C>T	c.(184-186)cCg>cTg	p.P62L		NM_001852.3	NP_001843.1	Q14055	CO9A2_HUMAN	collagen, type IX, alpha 2	62	Triple-helical region 4 (COL4).				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	collagen type IX trimer (GO:0005594)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(4)|stomach(2)|urinary_tract(2)	22	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;2.08e-17)			AGCACTCACCGGAGGGCCAGC	0.557																																						ENST00000372748.3																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(4)|stomach(2)|urinary_tract(2)	22						c.e3+1		collagen, type IX, alpha 2							114	121	119					1																	40780025		2203	4300	6503	SO:0001630	splice_region_variant	1298				axon guidance|skeletal system development	collagen type IX		g.chr1:40780025G>A	M95610	CCDS450.1	1p33-p32	2013-01-16			ENSG00000049089	ENSG00000049089		"Proteoglycans / Extracellular Matrix : Collagen proteoglycans", "Collagens"	2218	protein-coding gene	gene with protein product		120260		EDM2		8454052, 8528240, 1429648	Standard	NM_001852		Approved	MED	uc001cfh.1	Q14055	OTTHUMG00000005761	ENST00000372748.3:c.186+1C>T	1.37:g.40780025G>A							p.P62_splice	NM_001852.3	NP_001843.1	Q14055	CO9A2_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;2.08e-17)		3	281	-	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	62			Triple-helical region 4 (COL4).		B2RMP9	Splice_Site	SNP	ENST00000372748.3	37	c.186_splice	CCDS450.1	.	.	.	.	.	.	.	.	.	.	.	14.82	2.650492	0.47362	.	.	ENSG00000049089	ENST00000372748	D	0.98684	-5.07	5.15	4.24	0.50183	.	0.219310	0.39759	N	0.001280	D	0.97173	0.9076	M	0.75085	2.285	0.54753	D	0.999987	B	0.29671	0.254	B	0.24006	0.05	D	0.95929	0.8937	10	0.59425	D	0.04	.	9.6095	0.39654	0.0964:0.0:0.9036:0.0	.	62	Q14055	CO9A2_HUMAN	L	62	ENSP00000361834:P62L	ENSP00000361834:P62L	P	-	2	0	COL9A2	40552612	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	3.198000	0.51035	1.180000	0.42898	-0.136000	0.14681	CCG		0.557	COL9A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000015764.3	NM_001852	Missense_Mutation	4	75	0	0	0	1	0	4	75					A	40780025	G	A	40780025	5	1	400	1	0	0	0	0	0	0	1	0	3708	1130	39	2	2004	2	COL9A2	1	40780025	Splice_Site	SNP	G	TCGA-VN-A88K-01A-11D-A34U-08	30747866	40780025	208470596	2	19496											
C1orf129	80133	broad.mit.edu	37	chr1	170965648	170965648	+	Splice_Site	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gctctcttttggggctttagGtatgcccaggatgccctgag	5	13	13	10	0	1	1	0	1	1	0	2	2	1	2	2	4	2	3	2	4	2	5			TCGA-VN-A88K-01A-11D-A34U-08	TCGA-VN-A88K-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89d2e3cb-1a54-4f5b-93e9-e2ce8cb8074c	6b34e884-089c-4069-97e8-1cf89b756557	g.chr1:170965648G>C	ENST00000367758.3	+	14	1437	c.1338G>C	c.(1336-1338)ttG>ttC	p.L446F	MROH9_ENST00000367759.4_Splice_Site_p.L446F	NM_025063.2	NP_079339.2	Q5TGP6	MROH9_HUMAN	maestro heat-like repeat family member 9	446																	GGGGCTTTAGGTATGCCCAGG	0.423																																						ENST00000367759.4																			0											c.e14-1		maestro heat-like repeat family member 9							127	120	122					1																	170965648		1882	4109	5991	SO:0001630	splice_region_variant	80133							g.chr1:170965648G>C	AK027203	CCDS41436.1, CCDS53429.1	1q24.3	2012-12-19	2012-12-19	2012-12-19	ENSG00000117501	ENSG00000117501		"maestro heat-like repeat containing"	26287	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 129"	C1orf129			Standard	NM_025063		Approved	FLJ23550, ARMC11	uc010plz.2	Q5TGP6	OTTHUMG00000041456	ENST00000367758.3:c.1338-1G>C	1.37:g.170965648G>C						MROH9_ENST00000367758.3_Splice_Site_p.L446_splice	p.L446_splice	NM_001163629.1	NP_001157101.1					14	1492	+								A0PJM0|A0PJM2|F5GWX6|Q9H5D7	Splice_Site	SNP	ENST00000367758.3	37	c.1337_splice	CCDS41436.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	7.187|7.187	0.590664|0.590664	0.13812|0.13812	.|.	.|.	ENSG00000117501|ENSG00000117501	ENST00000367759;ENST00000367758|ENST00000426136	T;T|.	0.66815|.	-0.23;2.26|.	5.65|5.65	-1.12|-1.12	0.09808|0.09808	.|.	1.178000|.	0.06176|.	N|.	0.678518|.	T|T	0.31071|0.31071	0.0785|0.0785	L|L	0.32530|0.32530	0.975|0.975	0.80722|0.80722	D|D	1|1	B;B|.	0.17667|.	0.012;0.023|.	B;B|.	0.16722|.	0.007;0.016|.	T|T	0.16571|0.16571	-1.0398|-1.0398	9|5	.|.	.|.	.|.	.|.	10.1778|10.1778	0.42948|0.42948	0.295:0.2299:0.4751:0.0|0.295:0.2299:0.4751:0.0	.|.	446;446|.	F5GWX6;Q5TGP6|.	.;CA129_HUMAN|.	F|L	446|53	ENSP00000356733:L446F;ENSP00000356732:L446F|.	.|.	L|V	+|+	3|1	2|0	C1orf129|C1orf129	169232272|169232272	0.851000|0.851000	0.29673|0.29673	0.099000|0.099000	0.21106|0.21106	0.006000|0.006000	0.05464|0.05464	-0.415000|-0.415000	0.07106|0.07106	-0.575000|-0.575000	0.05982|0.05982	-1.708000|-1.708000	0.00717|0.00717	TTG|GTA		0.423	MROH9-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000099327.1	NM_025063	Missense_Mutation	4	122	0	0	0	1	0	4	122					C	170965648	G	C	170965648	5	2	400	1	0	0	0	0	0	0	1	0	1996	1275	44	5	1388	5	C1orf129	1	170965648	Splice_Site	SNP	G	TCGA-VN-A88K-01A-11D-A34U-08	130185623	170965648	78284973	3	19497											
SLC25A12	8604	broad.mit.edu	37	chr2	172669948	172669948	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aacaacagagccagagccacGctggttttgcattcgggtct	10	9	11	11	2	1	2	0	0	1	2	2	2	1	2	2	2	5	3	2	2	2	3			TCGA-VN-A88K-01A-11D-A34U-08	TCGA-VN-A88K-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89d2e3cb-1a54-4f5b-93e9-e2ce8cb8074c	6b34e884-089c-4069-97e8-1cf89b756557	g.chr2:172669948G>A	ENST00000422440.2	-	11	1109	c.1072C>T	c.(1072-1074)Cgt>Tgt	p.R358C	SLC25A12_ENST00000392592.4_Missense_Mutation_p.R251C	NM_003705.4	NP_003696.2	O75746	CMC1_HUMAN	solute carrier family 25 (aspartate/glutamate carrier), member 12	358					aspartate transport (GO:0015810)|carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|L-glutamate transport (GO:0015813)|malate-aspartate shuttle (GO:0043490)|response to calcium ion (GO:0051592)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)|L-aspartate transmembrane transporter activity (GO:0015183)|L-glutamate transmembrane transporter activity (GO:0005313)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|upper_aerodigestive_tract(1)	23			OV - Ovarian serous cystadenocarcinoma(117;0.216)		L-Aspartic Acid(DB00128)	CCAGAGCCACGCTGGTTTTGC	0.438																																						ENST00000422440.2																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|upper_aerodigestive_tract(1)	23						c.(1072-1074)Cgt>Tgt		solute carrier family 25 (aspartate/glutamate carrier), member 12	L-Aspartic Acid(DB00128)						121	115	117					2																	172669948		2203	4300	6503	SO:0001583	missense	8604				gluconeogenesis|malate-aspartate shuttle|response to calcium ion	integral to membrane|mitochondrial inner membrane	calcium ion binding|L-aspartate transmembrane transporter activity|L-glutamate transmembrane transporter activity|protein binding	g.chr2:172669948G>A	Y14494	CCDS33327.1	2q24	2013-05-22	2012-03-29		ENSG00000115840	ENSG00000115840		"Solute carriers", "EF-hand domain containing"	10982	protein-coding gene	gene with protein product		603667	"solute carrier family 25 (mitochondrial carrier, Aralar), member 12"			9722566, 10702666, 11566871	Standard	NM_003705		Approved	Aralar	uc002uhh.3	O75746	OTTHUMG00000134290	ENST00000422440.2:c.1072C>T	2.37:g.172669948G>A	ENSP00000388658:p.Arg358Cys					SLC25A12_ENST00000392592.4_Missense_Mutation_p.R251C	p.R358C	NM_003705.4	NP_003696.2	O75746	CMC1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.216)		11	1109	-			358					B3KR64|Q96AM8	Missense_Mutation	SNP	ENST00000422440.2	37	c.1072C>T	CCDS33327.1	.	.	.	.	.	.	.	.	.	.	g	23.8	4.455957	0.84209	.	.	ENSG00000115840	ENST00000422440;ENST00000392592	T;T	0.79033	-1.23;-1.23	4.96	4.96	0.65561	Mitochondrial carrier domain (2);	0.000000	0.85682	D	0.000000	D	0.85592	0.5732	M	0.62209	1.925	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	D	0.86946	0.2082	10	0.87932	D	0	-8.6656	13.2041	0.59785	0.0:0.0:0.8406:0.1594	.	251;358	B3KR64;O75746	.;CMC1_HUMAN	C	358;251	ENSP00000388658:R358C;ENSP00000376371:R251C	ENSP00000376371:R251C	R	-	1	0	SLC25A12	172378194	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	4.573000	0.60893	2.293000	0.77203	0.484000	0.47621	CGT		0.438	SLC25A12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259010.2	NM_003705		60	89	0	0	0	1	0	60	89					A	172669948	G	A	172669948	3	1	400	1	0	0	0	0	1	0	0	0	14474	1087	38	1	996	1	SLC25A12	2	172669948	Missense_Mutation	SNP	G	TCGA-VN-A88K-01A-11D-A34U-08		172669948	70529425	4	19498											
ZNF131	7690	broad.mit.edu	37	chr5	43175082	43175082	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gtgaccccagaaatcatgaaCcaagaggagagagagtctag	16	5	12	8	0	2	6	1	2	1	4	2	8	2	6	3	1	1	0	3	1	4	1			TCGA-VN-A88K-01A-11D-A34U-08	TCGA-VN-A88K-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89d2e3cb-1a54-4f5b-93e9-e2ce8cb8074c	6b34e884-089c-4069-97e8-1cf89b756557	g.chr5:43175082C>T	ENST00000399534.1	+	7	1763	c.1719C>T	c.(1717-1719)aaC>aaT	p.N573N	ZNF131_ENST00000509156.1_Silent_p.N573N|ZNF131_ENST00000505606.2_Silent_p.N539N|ZNF131_ENST00000509634.1_Silent_p.N539N|ZNF131_ENST00000306938.4_Silent_p.N539N|ZNF131_ENST00000509931.1_Intron			P52739	ZN131_HUMAN	zinc finger protein 131	573					regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	17						AAATCATGAACCAAGAGGAGA	0.488																																						ENST00000509634.1																			0				breast(2)|endometrium(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	17						c.(1615-1617)aaC>aaT		zinc finger protein 131							80	78	78					5																	43175082		1964	4159	6123	SO:0001819	synonymous_variant	7690					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr5:43175082C>T	U09410	CCDS43313.1	5p12	2013-01-09	2006-06-13		ENSG00000172262	ENSG00000172262		"Zinc fingers, C2H2-type", "-", "BTB/POZ domain containing"	12915	protein-coding gene	gene with protein product	"zinc finger and BTB domain containing 35"	604073	"zinc finger protein 131 (clone pHZ-10)"				Standard	XM_005248359		Approved	ZBTB35, pHZ-10	uc003jnk.3	P52739	OTTHUMG00000162223	ENST00000399534.1:c.1719C>T	5.37:g.43175082C>T						ZNF131_ENST00000306938.4_Silent_p.N539N|ZNF131_ENST00000509156.1_Silent_p.N573N|ZNF131_ENST00000399534.1_Silent_p.N573N|ZNF131_ENST00000505606.2_Silent_p.N539N|ZNF131_ENST00000509931.1_Intron	p.N539N			P52739	ZN131_HUMAN			7	2073	+			573					B4DRL3|Q6PIF0	Silent	SNP	ENST00000399534.1	37	c.1617C>T																																																																																					0.488	ZNF131-201	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000367982.1	NM_003432		24	34	0	0	0	1	0	24	34					T	43175082	C	T	43175082	2	4	400	1	0	0	0	0	0	0	0	1	17718	506	18	3		3	ZNF131	5	43175082	Silent	SNP	C	TCGA-VN-A88K-01A-11D-A34U-08		43175082	137740178	5	19499											
STK19	8859	broad.mit.edu	37	chr6	31939828	31939828	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tcattcagcgacagtggcggGcaaacccctcccggggcggg	7	5	15	14	4	2	0	2	0	0	0	3	1	3	0	3	5	2	1	3	5	1	1			TCGA-VN-A88K-01A-11D-A34U-08	TCGA-VN-A88K-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89d2e3cb-1a54-4f5b-93e9-e2ce8cb8074c	6b34e884-089c-4069-97e8-1cf89b756557	g.chr6:31939828G>A	ENST00000375333.2	+	1	108	c.55G>A	c.(55-57)Gca>Aca	p.A19T	DXO_ENST00000337523.5_5'UTR|STK19_ENST00000375331.2_Missense_Mutation_p.A19T|DXO_ENST00000375356.3_5'Flank|DXO_ENST00000478221.1_5'UTR|DXO_ENST00000375349.3_5'UTR	NM_032454.1	NP_115830.1	P49842	STK19_HUMAN	serine/threonine kinase 19	19					protein phosphorylation (GO:0006468)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			skin(5)|upper_aerodigestive_tract(2)	7						ACAGTGGCGGGCAAACCCCTC	0.637																																						ENST00000375331.2																			0				skin(5)|upper_aerodigestive_tract(2)	7						c.(55-57)Gca>Aca		serine/threonine kinase 19							73	82	79					6																	31939828		2203	4300	6503	SO:0001583	missense	8859					nucleus	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr6:31939828G>A	X77474	CCDS4733.1, CCDS34417.1	6p21.33	2011-09-15			ENSG00000204344	ENSG00000204344			11398	protein-coding gene	gene with protein product		604977				8012361, 9812991	Standard	NM_032454		Approved	D6S60, G11, RP1	uc003nyv.3	P49842	OTTHUMG00000166424	ENST00000375333.2:c.55G>A	6.37:g.31939828G>A	ENSP00000364482:p.Ala19Thr					DOM3Z_ENST00000478221.1_5'UTR|DOM3Z_ENST00000375349.3_5'UTR|DOM3Z_ENST00000337523.5_5'UTR|STK19_ENST00000375333.2_Missense_Mutation_p.A19T	p.A19T	NM_004197.1	NP_004188.1	P49842	STK19_HUMAN			1	221	+			19					A6NF95|A6NFW8|B0QZR5|Q13159|Q31617|Q5JP77|Q5ST72|Q5ST75	Missense_Mutation	SNP	ENST00000375333.2	37	c.55G>A	CCDS4733.1	.	.	.	.	.	.	.	.	.	.	G	13.78	2.338993	0.41398	.	.	ENSG00000204344	ENST00000460018;ENST00000375331;ENST00000375333	T;T;T	0.54479	0.57;1.58;1.57	3.8	1.98	0.26296	.	.	.	.	.	T	0.15262	0.0368	N	0.14661	0.345	0.09310	N	1	B;B;B	0.20261	0.043;0.01;0.006	B;B;B	0.22152	0.038;0.007;0.003	T	0.25710	-1.0124	9	0.87932	D	0	1.5007	5.6433	0.17577	0.1123:0.2164:0.6713:0.0	.	19;19;19	B4E0M4;P49842-2;P49842	.;.;STK19_HUMAN	T	19	ENSP00000418350:A19T;ENSP00000364480:A19T;ENSP00000364482:A19T	ENSP00000364480:A19T	A	+	1	0	STK19	32047807	0.000000	0.05858	0.003000	0.11579	0.021000	0.10359	-0.130000	0.10498	0.546000	0.28920	0.561000	0.74099	GCA		0.637	STK19-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000076484.3			4	80	0	0	0	1	0	4	80					A	31939828	G	A	31939828	3	1	400	1	0	0	0	0	1	0	0	0	15291	1203	42	3	57	3	STK19	6	31939828	Missense_Mutation	SNP	G	TCGA-VN-A88K-01A-11D-A34U-08		31939828	139175239	6	19500											
GRM1	2911	broad.mit.edu	37	chr6	146755288	146755288	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttccatggtggtgcacaggCgcgtgccaagcgcggcgacc	6	6	15	14	5	0	0	0	0	0	0	1	1	1	0	3	4	3	1	3	4	1	1			TCGA-VN-A88K-01A-11D-A34U-08	TCGA-VN-A88K-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89d2e3cb-1a54-4f5b-93e9-e2ce8cb8074c	6b34e884-089c-4069-97e8-1cf89b756557	g.chr6:146755288C>T	ENST00000282753.1	+	8	3176	c.2941C>T	c.(2941-2943)Cgc>Tgc	p.R981C	GRM1_ENST00000392299.2_3'UTR|GRM1_ENST00000355289.4_3'UTR|GRM1_ENST00000361719.2_Missense_Mutation_p.R981C|GRM1_ENST00000507907.1_3'UTR|GRM1_ENST00000492807.2_3'UTR			Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	981					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|cell death (GO:0008219)|cellular response to electrical stimulus (GO:0071257)|dimeric G-protein coupled receptor signaling pathway (GO:0038042)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|G-protein coupled receptor signaling pathway (GO:0007186)|locomotory behavior (GO:0007626)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of pain (GO:0019233)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|G-protein coupled receptor dimeric complex (GO:0038037)|G-protein coupled receptor homodimeric complex (GO:0038038)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)	p.R981C(1)		NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)		GGTGCACAGGCGCGTGCCAAG	0.652																																						ENST00000361719.2																			1	Substitution - Missense(1)	p.R981C(1)	large_intestine(1)	NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126						c.(2941-2943)Cgc>Tgc		glutamate receptor, metabotropic 1	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)						73	78	76					6																	146755288		2203	4300	6503	SO:0001583	missense	2911				synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	g.chr6:146755288C>T	U31215	CCDS5209.1, CCDS47497.1, CCDS64548.1	6q24	2014-06-12			ENSG00000152822	ENSG00000152822		"GPCR / Class C : Glutamate receptors, metabotropic", "Glutamate receptors"	4593	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 85"	604473				9076744, 9376535	Standard	NM_001278064		Approved	GPRC1A, mGlu1, MGLUR1, PPP1R85	uc010khw.2	Q13255	OTTHUMG00000015752	ENST00000282753.1:c.2941C>T	6.37:g.146755288C>T	ENSP00000282753:p.Arg981Cys					GRM1_ENST00000492807.2_3'UTR|GRM1_ENST00000392299.2_3'UTR|GRM1_ENST00000507907.1_3'UTR|GRM1_ENST00000355289.4_3'UTR|GRM1_ENST00000282753.1_Missense_Mutation_p.R981C	p.R981C	NM_001278064.1	NP_001264993.1	Q13255	GRM1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	9	3411	+		Ovarian(120;0.0387)	981					B9EG79|F8W805|Q13256|Q14757|Q14758|Q5VTF7|Q5VTF8|Q9NU10|Q9UGS9|Q9UGT0	Missense_Mutation	SNP	ENST00000282753.1	37	c.2941C>T	CCDS5209.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.242326	0.79912	.	.	ENSG00000152822	ENST00000361719;ENST00000282753	D;D	0.89123	-2.47;-2.47	5.1	5.1	0.69264	.	0.180842	0.49916	D	0.000133	T	0.80341	0.4605	N	0.24115	0.695	0.80722	D	1	D	0.63880	0.993	B	0.44315	0.446	D	0.83599	0.0127	10	0.52906	T	0.07	.	18.5007	0.90879	0.0:1.0:0.0:0.0	.	981	Q13255	GRM1_HUMAN	C	981	ENSP00000354896:R981C;ENSP00000282753:R981C	ENSP00000282753:R981C	R	+	1	0	GRM1	146796981	1.000000	0.71417	0.943000	0.38184	0.735000	0.41995	5.103000	0.64578	2.363000	0.80096	0.462000	0.41574	CGC		0.652	GRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042574.1	NM_000838		48	79	0	0	0	1	0	48	79					T	146755288	C	T	146755288	3	4	400	1	0	0	0	0	1	0	0	0	6796	768	27	1	3036	1	GRM1	6	146755288	Missense_Mutation	SNP	C	TCGA-VN-A88K-01A-11D-A34U-08	114815460	146755288	24359779	7	19501											
ANKIB1	54467	broad.mit.edu	37	chr7	92027931	92027931	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcatggcttggtttcatgacAtgaaccctcagagtattgcc	9	13	9	10	0	3	3	3	2	0	1	3	3	3	3	2	2	2	3	2	2	2	4			TCGA-VN-A88K-01A-11D-A34U-08	TCGA-VN-A88K-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89d2e3cb-1a54-4f5b-93e9-e2ce8cb8074c	6b34e884-089c-4069-97e8-1cf89b756557	g.chr7:92027931A>G	ENST00000265742.3	+	20	3314	c.2938A>G	c.(2938-2940)Atg>Gtg	p.M980V		NM_019004.1	NP_061877.1	Q9P2G1	AKIB1_HUMAN	ankyrin repeat and IBR domain containing 1	980							zinc ion binding (GO:0008270)			cervix(1)|endometrium(7)|kidney(3)|large_intestine(10)|lung(19)|skin(1)	41	all_cancers(62;2.06e-09)|all_epithelial(64;9.24e-09)|Breast(17;0.0034)|all_lung(186;0.0509)|Lung NSC(181;0.0692)		STAD - Stomach adenocarcinoma(171;6.16e-05)|all cancers(6;0.00183)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			GTTTCATGACATGAACCCTCA	0.483																																						ENST00000265742.3																			0				cervix(1)|endometrium(7)|kidney(3)|large_intestine(10)|lung(19)|skin(1)	41						c.(2938-2940)Atg>Gtg		ankyrin repeat and IBR domain containing 1							118	115	116					7																	92027931		2009	4182	6191	SO:0001583	missense	54467						protein binding|zinc ion binding	g.chr7:92027931A>G	AB037807	CCDS47639.1	7q21.3	2013-01-10			ENSG00000001629	ENSG00000001629		"Ankyrin repeat domain containing"	22215	protein-coding gene	gene with protein product							Standard	NM_019004		Approved	DKFZP434A0225, KIAA1386	uc003ulw.2	Q9P2G1	OTTHUMG00000155859	ENST00000265742.3:c.2938A>G	7.37:g.92027931A>G	ENSP00000265742:p.Met980Val						p.M980V	NM_019004.1	NP_061877.1	Q9P2G1	AKIB1_HUMAN	STAD - Stomach adenocarcinoma(171;6.16e-05)|all cancers(6;0.00183)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)		20	3314	+	all_cancers(62;2.06e-09)|all_epithelial(64;9.24e-09)|Breast(17;0.0034)|all_lung(186;0.0509)|Lung NSC(181;0.0692)		980					Q6GMS4|Q6P3S9|Q9NTD7|Q9NW49	Missense_Mutation	SNP	ENST00000265742.3	37	c.2938A>G	CCDS47639.1	.	.	.	.	.	.	.	.	.	.	A	14.38	2.518654	0.44763	.	.	ENSG00000001629	ENST00000265742	T	0.10192	2.9	5.35	4.19	0.49359	.	0.076761	0.85682	N	0.000000	T	0.09335	0.0230	L	0.29908	0.895	0.47659	D	0.999489	B;B	0.22480	0.049;0.07	B;B	0.20184	0.028;0.014	T	0.09314	-1.0680	10	0.87932	D	0	.	11.3585	0.49630	0.9292:0.0:0.0708:0.0	.	332;980	Q4VBX8;Q9P2G1	.;AKIB1_HUMAN	V	980	ENSP00000265742:M980V	ENSP00000265742:M980V	M	+	1	0	ANKIB1	91865867	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.749000	0.68704	1.151000	0.42436	0.533000	0.62120	ATG		0.483	ANKIB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342018.1			31	47	0	0	0	1	0	31	47					G	92027931	A	G	92027931	3	3	400	1	0	0	0	0	1	0	0	0	630	217	8	4	3012	4	ANKIB1	7	92027931	Missense_Mutation	SNP	A	TCGA-VN-A88K-01A-11D-A34U-08		92027931	67110732	8	19502											
FBXO24	26261	broad.mit.edu	37	chr7	100190516	100190516	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcagccgggcctgtgactgTgttgaggtctatctgcagtc	6	11	14	10	1	2	2	0	2	2	0	3	2	2	2	2	2	3	3	2	2	1	2			TCGA-VN-A88K-01A-11D-A34U-08	TCGA-VN-A88K-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89d2e3cb-1a54-4f5b-93e9-e2ce8cb8074c	6b34e884-089c-4069-97e8-1cf89b756557	g.chr7:100190516T>C	ENST00000241071.6	+	5	991	c.669T>C	c.(667-669)tgT>tgC	p.C223C	FBXO24_ENST00000468962.1_Silent_p.C211C|PCOLCE-AS1_ENST00000442166.2_RNA|FBXO24_ENST00000427939.2_Silent_p.C261C|FBXO24_ENST00000465843.1_Silent_p.C209C|PCOLCE-AS1_ENST00000544873.1_RNA|FBXO24_ENST00000360609.2_Silent_p.C209C	NM_033506.2	NP_277041.1	O75426	FBX24_HUMAN	F-box protein 24	223					protein ubiquitination (GO:0016567)	ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)			NS(2)|breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|ovary(3)|skin(4)|urinary_tract(2)	28	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					CCTGTGACTGTGTTGAGGTCT	0.557																																						ENST00000241071.6																			0				NS(2)|breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|ovary(3)|skin(4)|urinary_tract(2)	28						c.(667-669)tgT>tgC		F-box protein 24							96	81	86					7																	100190516		2203	4300	6503	SO:0001819	synonymous_variant	26261					ubiquitin ligase complex	ubiquitin-protein ligase activity	g.chr7:100190516T>C	AF174604	CCDS5698.1, CCDS5699.1, CCDS5699.2, CCDS55138.1	7q22	2005-10-07	2004-06-15		ENSG00000106336	ENSG00000106336		"F-boxes /  "other""	13595	protein-coding gene	gene with protein product		609097	"F-box only protein 24"			10531035, 10531037	Standard	NM_012172		Approved	FBX24	uc011kjz.1	O75426	OTTHUMG00000159543	ENST00000241071.6:c.669T>C	7.37:g.100190516T>C						PCOLCE-AS1_ENST00000442166.2_RNA|FBXO24_ENST00000427939.2_Silent_p.C261C|FBXO24_ENST00000468962.1_Silent_p.C211C|FBXO24_ENST00000360609.2_Silent_p.C209C|FBXO24_ENST00000465843.1_Silent_p.C209C|PCOLCE-AS1_ENST00000544873.1_RNA	p.C223C	NM_033506.2	NP_277041.1	O75426	FBX24_HUMAN			5	991	+	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)		223					A4D2D4|B4DX91|B4DY42|Q9H0G1	Silent	SNP	ENST00000241071.6	37	c.669T>C	CCDS5698.1																																																																																				0.557	FBXO24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356104.1			21	24	0	0	0	1	0	21	24					C	100190516	T	C	100190516	2	2	400	1	0	0	0	0	0	0	0	1	5735	1702	59	4		4	FBXO24	7	100190516	Silent	SNP	T	TCGA-VN-A88K-01A-11D-A34U-08	8162585	100190516	58948147	9	19503											
OR6V1	346517	broad.mit.edu	37	chr7	142750093	142750093	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cctcatctcctatggctacaTagtgaccactgtgctgcgga	8	11	9	13	1	2	1	1	1	1	0	3	2	2	2	3	2	3	2	3	2	3	3			TCGA-VN-A88K-01A-11D-A34U-08	TCGA-VN-A88K-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89d2e3cb-1a54-4f5b-93e9-e2ce8cb8074c	6b34e884-089c-4069-97e8-1cf89b756557	g.chr7:142750093T>C	ENST00000418316.1	+	1	677	c.656T>C	c.(655-657)aTa>aCa	p.I219T		NM_001001667.1	NP_001001667.1	Q8N148	OR6V1_HUMAN	olfactory receptor, family 6, subfamily V, member 1	219						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)	20	Melanoma(164;0.059)					TATGGCTACATAGTGACCACT	0.547																																						ENST00000418316.1																			0				endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)	20						c.(655-657)aTa>aCa		olfactory receptor, family 6, subfamily V, member 1							145	150	148					7																	142750093		2043	4203	6246	SO:0001583	missense	346517				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr7:142750093T>C		CCDS47728.1	7q34	2014-05-06			ENSG00000225781	ENSG00000225781		"GPCR / Class A : Olfactory receptors"	15090	protein-coding gene	gene with protein product						12732197	Standard	NM_001001667		Approved	GPR138	uc011ksv.2	Q8N148	OTTHUMG00000158385	ENST00000418316.1:c.656T>C	7.37:g.142750093T>C	ENSP00000396085:p.Ile219Thr						p.I219T	NM_001001667.1	NP_001001667.1	Q8N148	OR6V1_HUMAN			1	677	+	Melanoma(164;0.059)		219					A4D2I0|B9EH48|Q6IF70	Missense_Mutation	SNP	ENST00000418316.1	37	c.656T>C	CCDS47728.1	.	.	.	.	.	.	.	.	.	.	T	13.99	2.401264	0.42613	.	.	ENSG00000225781	ENST00000418316	T	0.00402	7.56	4.6	3.44	0.39384	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.01730	0.0055	H	0.95780	3.72	0.20489	N	0.999896	D	0.89917	1.0	D	0.97110	1.0	T	0.26224	-1.0109	9	0.87932	D	0	.	8.3305	0.32184	0.0:0.0958:0.0:0.9042	.	219	Q8N148	OR6V1_HUMAN	T	219	ENSP00000396085:I219T	ENSP00000396085:I219T	I	+	2	0	OR6V1	142460215	0.569000	0.26643	0.533000	0.28001	0.573000	0.36030	1.506000	0.35747	0.790000	0.33803	0.533000	0.62120	ATA		0.547	OR6V1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350860.1			4	169	0	0	0	1	0	4	169					C	142750093	T	C	142750093	3	2	400	1	0	0	0	0	1	0	0	0	11211	1406	49	4	658	4	OR6V1	7	142750093	Missense_Mutation	SNP	T	TCGA-VN-A88K-01A-11D-A34U-08	42559577	142750093	16388570	10	19504											
ARFGEF1	10565	broad.mit.edu	37	chr8	68139818	68139818	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aaaaatagctacatcttcatTaggattacacccaacctgta	16	11	4	10	0	2	0	1	0	1	0	2	1	2	1	2	1	4	2	2	1	8	6			TCGA-VN-A88K-01A-11D-A34U-08	TCGA-VN-A88K-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89d2e3cb-1a54-4f5b-93e9-e2ce8cb8074c	6b34e884-089c-4069-97e8-1cf89b756557	g.chr8:68139818T>C	ENST00000262215.3	-	26	3996	c.3607A>G	c.(3607-3609)Aat>Gat	p.N1203D	ARFGEF1_ENST00000520381.1_Missense_Mutation_p.N657D|ARFGEF1_ENST00000518230.1_Missense_Mutation_p.N41D	NM_006421.4	NP_006412.2	Q9Y6D6	BIG1_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited)	1203					endomembrane system organization (GO:0010256)|exocytosis (GO:0006887)|Golgi organization (GO:0007030)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of Rho GTPase activity (GO:0034259)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein glycosylation in Golgi (GO:0090284)|positive regulation of wound healing (GO:0090303)|protein transport (GO:0015031)|regulation of ARF protein signal transduction (GO:0032012)|regulation of establishment of cell polarity (GO:2000114)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|small nuclear ribonucleoprotein complex (GO:0030532)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|guanyl-nucleotide exchange factor activity (GO:0005085)|myosin binding (GO:0017022)|protein kinase A regulatory subunit binding (GO:0034237)			breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)			ACATCTTCATTAGGATTACAC	0.343																																						ENST00000262215.3																			0				breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	65						c.(3607-3609)Aat>Gat		ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited)							66	65	65					8																	68139818		2203	4298	6501	SO:0001583	missense	10565				exocytosis|regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity|myosin binding	g.chr8:68139818T>C	AF084520	CCDS6199.1	8q13	2011-08-18	2011-08-18		ENSG00000066777	ENSG00000066777			15772	protein-coding gene	gene with protein product		604141				10212200, 8917509	Standard	NM_006421		Approved	DKFZP434L057, BIG1, ARFGEP1, p200	uc003xxo.2	Q9Y6D6	OTTHUMG00000164626	ENST00000262215.3:c.3607A>G	8.37:g.68139818T>C	ENSP00000262215:p.Asn1203Asp					ARFGEF1_ENST00000520381.1_Missense_Mutation_p.N657D|ARFGEF1_ENST00000518230.1_Missense_Mutation_p.N41D	p.N1203D	NM_006421.4	NP_006412.2	Q9Y6D6	BIG1_HUMAN	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)		26	3996	-	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	1203					Q9NV46|Q9UFV2|Q9UNL0	Missense_Mutation	SNP	ENST00000262215.3	37	c.3607A>G	CCDS6199.1	.	.	.	.	.	.	.	.	.	.	T	17.03	3.284675	0.59867	.	.	ENSG00000066777	ENST00000520381;ENST00000262215;ENST00000518230;ENST00000517631	T;T;T;T	0.64260	2.61;-0.09;-0.06;1.59	4.84	4.84	0.62591	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.54983	0.1892	L	0.33710	1.025	0.58432	D	0.999999	B;B;B	0.29886	0.26;0.008;0.035	B;B;B	0.35114	0.196;0.027;0.027	T	0.56074	-0.8039	10	0.44086	T	0.13	.	14.4259	0.67215	0.0:0.0:0.0:1.0	.	1203;681;657	Q9Y6D6;Q59FY5;E5RIF2	BIG1_HUMAN;.;.	D	657;1203;41;52	ENSP00000428429:N657D;ENSP00000262215:N1203D;ENSP00000430891:N41D;ENSP00000429138:N52D	ENSP00000262215:N1203D	N	-	1	0	ARFGEF1	68302372	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.166000	0.64965	1.798000	0.52647	0.477000	0.44152	AAT		0.343	ARFGEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379441.4	NM_006421		46	52	0	0	0	1	0	46	52					C	68139818	T	C	68139818	3	2	400	1	0	0	0	0	1	0	0	0	852	1754	61	4	1998	4	ARFGEF1	8	68139818	Missense_Mutation	SNP	T	TCGA-VN-A88K-01A-11D-A34U-08		68139818	78224204	11	19505											
SH2D3C	10044	broad.mit.edu	37	chr9	130507029	130507029	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gggactgtgaaggtcttgccCcagtccccttcaggggcccc	5	8	13	15	0	2	1	1	1	1	0	3	2	3	2	6	4	1	0	6	4	1	2			TCGA-VN-A88K-01A-11D-A34U-08	TCGA-VN-A88K-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89d2e3cb-1a54-4f5b-93e9-e2ce8cb8074c	6b34e884-089c-4069-97e8-1cf89b756557	g.chr9:130507029C>T	ENST00000314830.8	-	7	1727	c.1614G>A	c.(1612-1614)tgG>tgA	p.W538*	SH2D3C_ENST00000373277.4_Nonsense_Mutation_p.W381*|SH2D3C_ENST00000420366.1_Nonsense_Mutation_p.W380*|SH2D3C_ENST00000471939.1_5'UTR|SH2D3C_ENST00000373274.3_Nonsense_Mutation_p.W378*|SH2D3C_ENST00000429553.1_Nonsense_Mutation_p.W184*|SH2D3C_ENST00000373276.3_Nonsense_Mutation_p.W470*	NM_170600.2	NP_733745.1	Q8N5H7	SH2D3_HUMAN	SH2 domain containing 3C	538					JNK cascade (GO:0007254)|positive regulation of signal transduction (GO:0009967)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|membrane (GO:0016020)	guanyl-nucleotide exchange factor activity (GO:0005085)|SH3/SH2 adaptor activity (GO:0005070)	p.W538C(2)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						AGGTCTTGCCCCAGTCCCCTT	0.602																																						ENST00000314830.8																			2	Substitution - Missense(2)	p.W538C(2)	lung(2)	breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						c.(1612-1614)tgG>tgA		SH2 domain containing 3C							135	139	138					9																	130507029		2203	4300	6503	SO:0001587	stop_gained	10044				JNK cascade|small GTPase mediated signal transduction	cytoplasm|membrane	guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity	g.chr9:130507029C>T	AF124251	CCDS6877.1, CCDS6878.1, CCDS48026.1, CCDS48028.1, CCDS59145.1	9q33.1-q33.3	2013-02-14	2002-01-14		ENSG00000095370	ENSG00000095370		"SH2 domain containing"	16884	protein-coding gene	gene with protein product		604722	"SH2 domain-containing 3C"			10187783	Standard	NM_170600		Approved	NSP3	uc004bsc.3	Q8N5H7	OTTHUMG00000020717	ENST00000314830.8:c.1614G>A	9.37:g.130507029C>T	ENSP00000317817:p.Trp538*					SH2D3C_ENST00000373276.3_Nonsense_Mutation_p.W470*|SH2D3C_ENST00000373277.4_Nonsense_Mutation_p.W381*|SH2D3C_ENST00000420366.1_Nonsense_Mutation_p.W380*|SH2D3C_ENST00000471939.1_5'UTR|SH2D3C_ENST00000429553.1_Nonsense_Mutation_p.W184*|SH2D3C_ENST00000373274.3_Nonsense_Mutation_p.W378*	p.W538*	NM_170600.2	NP_733745.1	Q8N5H7	SH2D3_HUMAN			7	1727	-			538					A8K5S8|E9PG48|Q5HYE5|Q5JU31|Q6UY42|Q8N6X3|Q9Y2X5	Nonsense_Mutation	SNP	ENST00000314830.8	37	c.1614G>A	CCDS6877.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.411513	0.83340	.	.	ENSG00000095370	ENST00000373277;ENST00000420366;ENST00000373276;ENST00000373274;ENST00000429553;ENST00000314830	.	.	.	5.63	4.74	0.60224	.	0.713732	0.14423	N	0.320533	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.45353	T	0.12	-42.4967	10.0823	0.42397	0.0:0.8305:0.0:0.1695	.	.	.	.	X	381;380;470;378;184;538	.	ENSP00000317817:W538X	W	-	3	0	SH2D3C	129546850	0.992000	0.36948	1.000000	0.80357	0.209000	0.24338	1.261000	0.32980	1.381000	0.46364	-0.258000	0.10820	TGG		0.602	SH2D3C-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000054264.1	NM_005489		69	129	0	0	0	1	0	69	129					T	130507029	C	T	130507029	4	4	400	1	0	0	0	0	0	1	0	0	14234	624	22	3	992	3	SH2D3C	9	130507029	Nonsense_Mutation	SNP	C	TCGA-VN-A88K-01A-11D-A34U-08		130507029	10706402	12	19506											
INPP5E	56623	broad.mit.edu	37	chr9	139329254	139329254	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gttccggtctgggaagtagcGggccagctcatccgccccca	6	7	13	15	3	2	0	1	0	1	0	4	1	4	1	5	3	2	3	5	3	2	2			TCGA-VN-A88K-01A-11D-A34U-08	TCGA-VN-A88K-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89d2e3cb-1a54-4f5b-93e9-e2ce8cb8074c	6b34e884-089c-4069-97e8-1cf89b756557	g.chr9:139329254G>A	ENST00000371712.3	-	2	1276	c.874C>T	c.(874-876)Cgc>Tgc	p.R292C		NM_019892.4	NP_063945.2	Q10713	MPPA_HUMAN	inositol polyphosphate-5-phosphatase, 72 kDa	0					cellular protein metabolic process (GO:0044267)|protein targeting to mitochondrion (GO:0006626)|proteolysis (GO:0006508)	extracellular space (GO:0005615)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			NS(1)|endometrium(1)|lung(4)|skin(3)	9		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;8.36e-06)|Epithelial(140;1.4e-05)		GGGAAGTAGCGGGCCAGCTCA	0.682																																						ENST00000371712.3																			0				NS(1)|endometrium(1)|lung(4)|skin(3)	9						c.(874-876)Cgc>Tgc		inositol polyphosphate-5-phosphatase, 72 kDa							27	25	26					9																	139329254		2195	4295	6490	SO:0001583	missense	56623					cilium axoneme|cytoskeleton|Golgi cisterna membrane	inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity	g.chr9:139329254G>A	AF187891	CCDS7000.1	9q34.3	2011-02-11			ENSG00000148384	ENSG00000148384			21474	protein-coding gene	gene with protein product		613037	"Joubert syndrome 1"	JBTS1		10764818, 10577920, 19668216	Standard	NM_019892		Approved	PPI5PIV, CORS1	uc004cho.3	Q9NRR6	OTTHUMG00000020927	ENST00000371712.3:c.874C>T	9.37:g.139329254G>A	ENSP00000360777:p.Arg292Cys						p.R292C	NM_019892.4	NP_063945.2	Q9NRR6	INP5E_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;8.36e-06)|Epithelial(140;1.4e-05)	2	1276	-		Myeloproliferative disorder(178;0.0511)	292					B4DKL3|E7ET61|Q16639|Q5SXM9|Q8N513	Missense_Mutation	SNP	ENST00000371712.3	37	c.874C>T	CCDS7000.1	.	.	.	.	.	.	.	.	.	.	G	20.1	3.934263	0.73442	.	.	ENSG00000148384	ENST00000371712	D	0.98012	-4.66	4.53	3.53	0.40419	.	0.129405	0.51477	D	0.000094	D	0.97867	0.9299	M	0.70275	2.135	0.80722	D	1	D;D	0.76494	0.999;0.999	P;P	0.59703	0.862;0.723	D	0.97659	1.0159	10	0.87932	D	0	-19.2862	11.6879	0.51497	0.0:0.0:0.5763:0.4237	.	292;292	Q9NRR6-2;Q9NRR6	.;INP5E_HUMAN	C	292	ENSP00000360777:R292C	ENSP00000360777:R292C	R	-	1	0	INPP5E	138449075	1.000000	0.71417	0.985000	0.45067	0.778000	0.44026	5.509000	0.67012	0.820000	0.34516	0.561000	0.74099	CGC		0.682	INPP5E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055058.1	NM_019892		10	13	0	0	0	1	0	10	13					A	139329254	G	A	139329254	3	1	400	1	0	0	0	0	1	0	0	0	7757	1116	39	2	1096	2	INPP5E	9	139329254	Missense_Mutation	SNP	G	TCGA-VN-A88K-01A-11D-A34U-08	8822225	139329254	1884177	13	19507											
OR52A1	23538	broad.mit.edu	37	chr11	5173454	5173454	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgcgctcagatttgatgatgCtcagaagcaaggaatttcca	12	11	10	8	1	2	4	2	2	0	2	3	5	3	5	1	1	3	3	1	1	3	2			TCGA-VN-A88K-01A-11D-A34U-08	TCGA-VN-A88K-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89d2e3cb-1a54-4f5b-93e9-e2ce8cb8074c	6b34e884-089c-4069-97e8-1cf89b756557	g.chr11:5173454C>T	ENST00000380367.1	-	2	563	c.146G>A	c.(145-147)aGc>aAc	p.S49N	OR52A1_ENST00000328942.1_Missense_Mutation_p.S49N			Q9UKL2	O52A1_HUMAN	olfactory receptor, family 52, subfamily A, member 1	49					sensory perception of smell (GO:0007608)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|endometrium(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	19		Medulloblastoma(188;0.00106)|Breast(177;0.0155)|all_neural(188;0.0189)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TTTGATGATGCTCAGAAGCAA	0.463																																						ENST00000380367.1																			0				breast(2)|endometrium(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	19						c.(145-147)aGc>aAc		olfactory receptor, family 52, subfamily A, member 1							80	74	76					11																	5173454		2201	4297	6498	SO:0001583	missense	23538				sensory perception of smell	integral to plasma membrane	olfactory receptor activity	g.chr11:5173454C>T	AF154673	CCDS31374.1	11p15.4	2012-08-09			ENSG00000182070	ENSG00000182070		"GPCR / Class A : Olfactory receptors"	8318	protein-coding gene	gene with protein product						10512676	Standard	NM_012375		Approved	HPFH1OR	uc010qyy.2	Q9UKL2	OTTHUMG00000066603	ENST00000380367.1:c.146G>A	11.37:g.5173454C>T	ENSP00000369725:p.Ser49Asn					OR52A1_ENST00000328942.1_Missense_Mutation_p.S49N	p.S49N			Q9UKL2	O52A1_HUMAN		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	2	563	-		Medulloblastoma(188;0.00106)|Breast(177;0.0155)|all_neural(188;0.0189)	49					Q6IF31	Missense_Mutation	SNP	ENST00000380367.1	37	c.146G>A	CCDS31374.1	.	.	.	.	.	.	.	.	.	.	c	4.939	0.174413	0.09391	.	.	ENSG00000182070	ENST00000380367;ENST00000328942	T;T	0.03004	4.08;4.08	5.37	-0.306	0.12780	GPCR, rhodopsin-like superfamily (1);	1.335760	0.05045	N	0.477113	T	0.04815	0.0130	L	0.52573	1.65	0.09310	N	1	B	0.20261	0.043	B	0.20184	0.028	T	0.45396	-0.9264	10	0.66056	D	0.02	.	3.5602	0.07880	0.5369:0.2681:0.083:0.112	.	49	Q9UKL2	O52A1_HUMAN	N	49	ENSP00000369725:S49N;ENSP00000333684:S49N	ENSP00000333684:S49N	S	-	2	0	OR52A1	5130030	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.242000	0.08928	-0.143000	0.11334	-1.021000	0.02439	AGC		0.463	OR52A1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142810.2	NM_012375		26	40	0	0	0	1	0	26	40					T	5173454	C	T	5173454	3	4	400	1	0	0	0	0	1	0	0	0	11108	797	28	3	794	3	OR52A1	11	5173454	Missense_Mutation	SNP	C	TCGA-VN-A88K-01A-11D-A34U-08		5173454	129833062	14	19508											
UBQLN3	50613	broad.mit.edu	37	chr11	5529067	5529067	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggaacacctcaggaggtggAtttgggagaggatcctcaga	11	7	16	7	0	2	2	2	0	0	2	3	7	3	6	2	6	1	0	2	6	1	1			TCGA-VN-A88K-01A-11D-A34U-08	TCGA-VN-A88K-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89d2e3cb-1a54-4f5b-93e9-e2ce8cb8074c	6b34e884-089c-4069-97e8-1cf89b756557	g.chr11:5529067A>C	ENST00000311659.4	-	2	1869	c.1722T>G	c.(1720-1722)aaT>aaG	p.N574K	HBG2_ENST00000380259.2_Intron|AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380252.1_5'Flank|HBE1_ENST00000380237.1_5'Flank	NM_017481.2	NP_059509.1	Q9H347	UBQL3_HUMAN	ubiquilin 3	574										NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|prostate(1)|skin(2)	39		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CAGGAGGTGGATTTGGGAGAG	0.522																																					Ovarian(72;684 1260 12332 41642 52180)	ENST00000311659.4																			0				NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|prostate(1)|skin(2)	39						c.(1720-1722)aaT>aaG		ubiquilin 3							62	60	60					11																	5529067		2201	4297	6498	SO:0001583	missense	50613							g.chr11:5529067A>C	AF230481	CCDS7758.1	11p15	2013-02-12			ENSG00000175520	ENSG00000175520		"Ubiquilin family"	12510	protein-coding gene	gene with protein product		605473				10831842	Standard	NM_017481		Approved	TUP-1	uc001may.1	Q9H347	OTTHUMG00000066886	ENST00000311659.4:c.1722T>G	11.37:g.5529067A>C	ENSP00000347997:p.Asn574Lys					HBG2_ENST00000380259.2_Intron	p.N574K	NM_017481.2	NP_059509.1	Q9H347	UBQL3_HUMAN		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	2	1869	-		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)	574					Q9NRE0	Missense_Mutation	SNP	ENST00000311659.4	37	c.1722T>G	CCDS7758.1	.	.	.	.	.	.	.	.	.	.	A	0.009	-1.855669	0.00558	.	.	ENSG00000175520	ENST00000311659	T	0.37752	1.18	4.82	-2.93	0.05598	.	1.992470	0.02484	N	0.088811	T	0.31827	0.0809	L	0.43152	1.355	0.09310	N	1	B	0.19935	0.04	B	0.16722	0.016	T	0.28299	-1.0048	10	0.35671	T	0.21	3.1357	10.1045	0.42524	0.6232:0.0:0.3768:0.0	.	574	Q9H347	UBQL3_HUMAN	K	574	ENSP00000347997:N574K	ENSP00000347997:N574K	N	-	3	2	UBQLN3	5485643	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.360000	0.02600	-0.703000	0.05049	-0.242000	0.12053	AAT		0.522	UBQLN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143348.1	NM_017481		22	26	0	0	0	1	0	22	26					C	5529067	A	C	5529067	3	2	400	1	0	0	0	0	1	0	0	0	16895	330	12	5	249	5	UBQLN3	11	5529067	Missense_Mutation	SNP	A	TCGA-VN-A88K-01A-11D-A34U-08	355613	5529067	129477449	15	19509											
ATM	472	broad.mit.edu	37	chr11	108200991	108200991	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttggatgaattagccctgcGtgcactgaaagaggatcgta	11	10	13	7	2	0	3	0	2	0	1	1	5	0	5	1	2	3	3	1	2	4	3	rs587781361		TCGA-VN-A88K-01A-11D-A34U-08	TCGA-VN-A88K-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89d2e3cb-1a54-4f5b-93e9-e2ce8cb8074c	6b34e884-089c-4069-97e8-1cf89b756557	g.chr11:108200991G>C	ENST00000452508.2	+	51	7547	c.7358G>C	c.(7357-7359)cGt>cCt	p.R2453P	C11orf65_ENST00000525729.1_Intron|ATM_ENST00000278616.4_Missense_Mutation_p.R2453P			Q13315	ATM_HUMAN	ATM serine/threonine kinase	2453	FAT. {ECO:0000255|PROSITE- ProRule:PRU00534}.				brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|DNA damage induced protein phosphorylation (GO:0006975)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|heart development (GO:0007507)|histone mRNA catabolic process (GO:0071044)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|lipoprotein catabolic process (GO:0042159)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of B cell proliferation (GO:0030889)|neuron apoptotic process (GO:0051402)|oocyte development (GO:0048599)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of neuron apoptotic process (GO:0043525)|pre-B cell allelic exclusion (GO:0002331)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reciprocal meiotic recombination (GO:0007131)|replicative senescence (GO:0090399)|response to hypoxia (GO:0001666)|response to ionizing radiation (GO:0010212)|signal transduction (GO:0007165)|signal transduction involved in mitotic G2 DNA damage checkpoint (GO:0072434)|somitogenesis (GO:0001756)|telomere maintenance (GO:0000723)	cytoplasmic vesicle (GO:0031410)|nucleoplasm (GO:0005654)|spindle (GO:0005819)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|histone serine kinase activity (GO:0035174)|protein complex binding (GO:0032403)|protein dimerization activity (GO:0046983)|protein N-terminus binding (GO:0047485)|protein serine/threonine kinase activity (GO:0004674)	p.R2453P(1)		NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	Caffeine(DB00201)	TTAGCCCTGCGTGCACTGAAA	0.378			"D, Mis, N, F, S"		T-PLL	"leukemia, lymphoma, medulloblastoma, glioma"		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)																												ENST00000278616.4			yes	Rec	yes	Ataxia-telangiectasia	11	11q22.3	472	"D, Mis, N, F, S"	ataxia telangiectasia mutated			"L, O"		"leukemia, lymphoma, medulloblastoma, glioma"	T-PLL		1	Substitution - Missense(1)	p.R2453P(1)	lung(1)	NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448						c.(7357-7359)cGt>cCt	Genes defective in diseases associated with sensitivity to DNA damaging agents	ataxia telangiectasia mutated							118	121	120					11																	108200991		2201	4298	6499	SO:0001583	missense	472	Ataxia Telangiectasia	Familial Cancer Database	AT, Louis-Bar syndrome	cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding	g.chr11:108200991G>C	AB209133	CCDS31669.1	11q22-q23	2014-09-17	2014-06-17		ENSG00000149311	ENSG00000149311			795	protein-coding gene	gene with protein product	"TEL1, telomere maintenance 1, homolog (S. cerevisiae)"	607585	"ataxia telangiectasia mutated (includes complementation groups A, C and D)", "ataxia telangiectasia mutated"	ATA, ATDC, ATC, ATD			Standard	XM_005271561		Approved	TEL1, TELO1	uc001pkb.1	Q13315	OTTHUMG00000166480	ENST00000452508.2:c.7358G>C	11.37:g.108200991G>C	ENSP00000388058:p.Arg2453Pro	TSP Lung(14;0.12)				ATM_ENST00000452508.2_Missense_Mutation_p.R2453P|C11orf65_ENST00000525729.1_Intron	p.R2453P	NM_000051.3	NP_000042.3	Q13315	ATM_HUMAN		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	50	7743	+		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)	2453			FAT.		B2RNX5|O15429|Q12758|Q16551|Q93007|Q9NP02|Q9UCX7	Missense_Mutation	SNP	ENST00000452508.2	37	c.7358G>C	CCDS31669.1	.	.	.	.	.	.	.	.	.	.	G	7.830	0.719598	0.15372	.	.	ENSG00000149311	ENST00000278616;ENST00000452508	D;D	0.83419	-1.72;-1.72	4.7	1.72	0.24424	PIK-related kinase (1);PIK-related kinase, FAT (1);Armadillo-type fold (1);	0.453077	0.27836	N	0.017658	T	0.79851	0.4517	L	0.50333	1.59	0.80722	D	1	P	0.41524	0.753	P	0.48952	0.596	T	0.72776	-0.4191	10	0.42905	T	0.14	.	3.8417	0.08917	0.3933:0.0:0.4456:0.1611	.	2453	Q13315	ATM_HUMAN	P	2453	ENSP00000278616:R2453P;ENSP00000388058:R2453P	ENSP00000278616:R2453P	R	+	2	0	ATM	107706201	0.000000	0.05858	0.996000	0.52242	0.028000	0.11728	-0.177000	0.09796	0.135000	0.18707	-0.993000	0.02533	CGT		0.378	ATM-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389938.1	NM_000051		32	10	0	0	0	1	0	32	10					C	108200991	G	C	108200991	3	2	400	1	0	0	0	0	1	0	0	0	1109	1145	40	5	7552	5	ATM	11	108200991	Missense_Mutation	SNP	G	TCGA-VN-A88K-01A-11D-A34U-08	102671924	108200991	26805525	16	19510											
CLEC6A	93978	broad.mit.edu	37	chr12	8618186	8618186	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gagcagaactgtgttgagatGggagcacatttggttgtgtt	9	13	15	4	0	0	2	0	1	0	2	0	5	0	3	0	2	3	5	0	2	1	4	rs141203382	byFrequency	TCGA-VN-A88K-01A-11D-A34U-08	TCGA-VN-A88K-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89d2e3cb-1a54-4f5b-93e9-e2ce8cb8074c	6b34e884-089c-4069-97e8-1cf89b756557	g.chr12:8618186G>T	ENST00000382073.3	+	4	516	c.330G>T	c.(328-330)atG>atT	p.M110I		NM_001007033.1	NP_001007034.1	Q6EIG7	CLC6A_HUMAN	C-type lectin domain family 6, member A	110	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				defense response to fungus (GO:0050832)|innate immune response (GO:0045087)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			breast(1)|large_intestine(2)|lung(7)	10	Lung SC(5;0.184)					GTGTTGAGATGGGAGCACATT	0.383																																						ENST00000382073.3																			0				breast(1)|large_intestine(2)|lung(7)	10						c.(328-330)atG>atT		C-type lectin domain family 6, member A							172	155	161					12																	8618186		2203	4300	6503	SO:0001583	missense	93978				defense response to fungus|innate immune response|positive regulation of cytokine secretion|positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to membrane	sugar binding	g.chr12:8618186G>T	AY321309	CCDS31739.1	12p13	2005-09-21	2005-02-09	2005-02-11	ENSG00000205846	ENSG00000205846		"C-type lectin domain containing"	14556	protein-coding gene	gene with protein product		613579	"C-type (calcium dependent, carbohydrate-recognition domain) lectin, superfamily member 10"	CLECSF10			Standard	NM_001007033		Approved	dectin-2	uc001qum.1	Q6EIG7	OTTHUMG00000168672	ENST00000382073.3:c.330G>T	12.37:g.8618186G>T	ENSP00000371505:p.Met110Ile						p.M110I	NM_001007033.1	NP_001007034.1	Q6EIG7	CLC6A_HUMAN			4	516	+	Lung SC(5;0.184)		110			C-type lectin.		A2RUK3	Missense_Mutation	SNP	ENST00000382073.3	37	c.330G>T	CCDS31739.1	.	.	.	.	.	.	.	.	.	.	G	13.39	2.222048	0.39300	.	.	ENSG00000205846	ENST00000382073	T	0.17213	2.29	3.96	3.06	0.35304	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	0.165132	0.29106	N	0.013134	T	0.14614	0.0353	L	0.50993	1.605	0.19575	N	0.999962	B	0.34181	0.44	B	0.32090	0.14	T	0.16424	-1.0403	10	0.66056	D	0.02	.	7.423	0.27083	0.1178:0.0:0.8822:0.0	.	110	Q6EIG7	CLC6A_HUMAN	I	110	ENSP00000371505:M110I	ENSP00000371505:M110I	M	+	3	0	CLEC6A	8509453	1.000000	0.71417	0.268000	0.24571	0.682000	0.39822	1.885000	0.39678	1.234000	0.43709	0.557000	0.71058	ATG		0.383	CLEC6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400562.1	NM_001007033		8	69	1	0	0.27861	1	0.27861	8	69					T	8618186	G	T	8618186	3	4	400	1	0	0	0	0	1	0	0	0	3520	1348	47	5	344	5	CLEC6A	12	8618186	Missense_Mutation	SNP	G	TCGA-VN-A88K-01A-11D-A34U-08		8618186	125233709	17	19511											
STAB2	55576	broad.mit.edu	37	chr12	104048409	104048409	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aggggacatcattgcttccaAtgggcttctgcacatccttg	8	12	10	11	0	2	0	1	0	1	0	4	1	4	1	2	3	2	3	2	3	1	4	rs527425197		TCGA-VN-A88K-01A-11D-A34U-08	TCGA-VN-A88K-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89d2e3cb-1a54-4f5b-93e9-e2ce8cb8074c	6b34e884-089c-4069-97e8-1cf89b756557	g.chr12:104048409A>G	ENST00000388887.2	+	13	1688	c.1484A>G	c.(1483-1485)aAt>aGt	p.N495S	RP11-341G23.2_ENST00000551905.1_RNA	NM_017564.9	NP_060034.9			stabilin 2											NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						ATTGCTTCCAATGGGCTTCTG	0.393																																						ENST00000388887.2																			0				NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						c.(1483-1485)aAt>aGt		stabilin 2							91	85	87					12																	104048409		2203	4300	6503	SO:0001583	missense	55576				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity	g.chr12:104048409A>G	AF160476	CCDS31888.1	12q23.3	2007-01-29				ENSG00000136011			18629	protein-coding gene	gene with protein product	"hyaluronic acid receptor for endocytosis"	608561				11829752, 12077138	Standard	XR_429107		Approved	DKFZP434E0321, FELL, STAB-2, HARE, FEEL-2	uc001tjw.3	Q8WWQ8	OTTHUMG00000170056	ENST00000388887.2:c.1484A>G	12.37:g.104048409A>G	ENSP00000373539:p.Asn495Ser						p.N495S	NM_017564.9	NP_060034.9	Q8WWQ8	STAB2_HUMAN			13	1688	+			495			FAS1 1.			Missense_Mutation	SNP	ENST00000388887.2	37	c.1484A>G	CCDS31888.1	.	.	.	.	.	.	.	.	.	.	A	20.1	3.931995	0.73442	.	.	ENSG00000136011	ENST00000388887	D	0.92545	-3.06	5.8	5.8	0.92144	FAS1 domain (5);	0.000000	0.85682	D	0.000000	D	0.96864	0.8976	M	0.91090	3.175	0.45261	D	0.998262	D	0.89917	1.0	D	0.87578	0.998	D	0.97619	1.0134	10	0.72032	D	0.01	.	15.834	0.78782	1.0:0.0:0.0:0.0	.	495	Q8WWQ8	STAB2_HUMAN	S	495	ENSP00000373539:N495S	ENSP00000373539:N495S	N	+	2	0	STAB2	102572539	1.000000	0.71417	0.983000	0.44433	0.596000	0.36781	7.342000	0.79310	2.227000	0.72691	0.460000	0.39030	AAT		0.393	STAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407089.1			32	44	0	0	0	1	0	32	44					G	104048409	A	G	104048409	3	3	400	1	0	0	0	0	1	0	0	0	15237	101	4	4	1534	4	STAB2	12	104048409	Missense_Mutation	SNP	A	TCGA-VN-A88K-01A-11D-A34U-08	95430223	104048409	29803486	18	19512											
GLT8D2	83468	broad.mit.edu	37	chr12	104387275	104387275	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcccagggagctgctatagaGgttttccctaagaaatgaaa	13	10	10	8	0	0	3	0	1	0	2	2	4	2	4	2	2	2	3	2	2	5	5			TCGA-VN-A88K-01A-11D-A34U-08	TCGA-VN-A88K-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89d2e3cb-1a54-4f5b-93e9-e2ce8cb8074c	6b34e884-089c-4069-97e8-1cf89b756557	g.chr12:104387275G>T	ENST00000360814.4	-	10	1180	c.775C>A	c.(775-777)Ctc>Atc	p.L259I	GLT8D2_ENST00000546436.1_Missense_Mutation_p.L259I|GLT8D2_ENST00000548660.1_Missense_Mutation_p.L259I	NM_031302.3	NP_112592.1	Q9H1C3	GL8D2_HUMAN	glycosyltransferase 8 domain containing 2	259						integral component of membrane (GO:0016021)	transferase activity, transferring glycosyl groups (GO:0016757)			kidney(3)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)	16						CTGCTATAGAGGTTTTCCCTA	0.438																																						ENST00000360814.4																			0				kidney(3)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)	16						c.(775-777)Ctc>Atc		glycosyltransferase 8 domain containing 2							36	38	37					12																	104387275		2203	4300	6503	SO:0001583	missense	83468					integral to membrane	transferase activity, transferring glycosyl groups	g.chr12:104387275G>T	BC022343	CCDS9096.1	12q23.3	2013-02-22			ENSG00000120820	ENSG00000120820		"Glycosyltransferase family 8 domain containing"	24890	protein-coding gene	gene with protein product							Standard	NM_031302		Approved	FLJ31494	uc001tkh.1	Q9H1C3	OTTHUMG00000170120	ENST00000360814.4:c.775C>A	12.37:g.104387275G>T	ENSP00000354053:p.Leu259Ile					GLT8D2_ENST00000546436.1_Missense_Mutation_p.L259I|GLT8D2_ENST00000548660.1_Missense_Mutation_p.L259I	p.L259I	NM_031302.3	NP_112592.1	Q9H1C3	GL8D2_HUMAN			10	1180	-			259					Q96KA2	Missense_Mutation	SNP	ENST00000360814.4	37	c.775C>A	CCDS9096.1	.	.	.	.	.	.	.	.	.	.	G	15.56	2.871102	0.51695	.	.	ENSG00000120820	ENST00000360814;ENST00000546436;ENST00000548660	T;T;T	0.22539	1.95;1.95;1.95	5.58	5.58	0.84498	.	0.055495	0.64402	D	0.000001	T	0.17450	0.0419	L	0.33485	1.01	0.80722	D	1	P	0.38129	0.619	B	0.33890	0.172	T	0.03202	-1.1061	10	0.25751	T	0.34	.	17.7571	0.88452	0.0:0.0:1.0:0.0	.	259	Q9H1C3	GL8D2_HUMAN	I	259	ENSP00000354053:L259I;ENSP00000449750:L259I;ENSP00000447450:L259I	ENSP00000354053:L259I	L	-	1	0	GLT8D2	102911405	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.551000	0.60740	2.627000	0.88993	0.655000	0.94253	CTC		0.438	GLT8D2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407371.1	NM_031302		3	18	1	0	0.115264	1	0.117945	3	18					T	104387275	G	T	104387275	3	4	400	1	0	0	0	0	1	0	0	0	6470	1000	35	5	282	5	GLT8D2	12	104387275	Missense_Mutation	SNP	G	TCGA-VN-A88K-01A-11D-A34U-08	338866	104387275	29464620	19	19513											
ING1	3621	broad.mit.edu	37	chr13	111368196	111368196	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgctcagcccggccactttcGggcgcggatttatagcagta	7	9	12	13	5	1	0	1	0	0	0	2	1	1	1	2	3	2	3	2	3	3	5	rs570284846		TCGA-VN-A88K-01A-11D-A34U-08	TCGA-VN-A88K-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89d2e3cb-1a54-4f5b-93e9-e2ce8cb8074c	6b34e884-089c-4069-97e8-1cf89b756557	g.chr13:111368196G>T	ENST00000375774.3	+	1	868	c.406G>T	c.(406-408)Ggg>Tgg	p.G136W	ING1_ENST00000333219.7_Intron|CARS2_ENST00000535398.1_5'Flank|ING1_ENST00000338450.7_Intron|ING1_ENST00000375775.3_Intron|ING1_ENST00000464141.1_Intron	NM_005537.4	NP_005528.3	Q9UK53	ING1_HUMAN	inhibitor of growth family, member 1	136					cell cycle (GO:0007049)|chromatin modification (GO:0016568)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|positive regulation of transcription, DNA-templated (GO:0045893)|protein import into nucleus (GO:0006606)|regulation of cell death (GO:0010941)	nucleus (GO:0005634)	methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)	p.G136W(1)		endometrium(4)|large_intestine(6)|lung(1)|ovary(1)	12	all_lung(23;3.61e-05)|Lung NSC(43;0.00144)|Lung SC(71;0.0753)|all_neural(89;0.077)|Medulloblastoma(90;0.148)		BRCA - Breast invasive adenocarcinoma(86;0.188)			GGCCACTTTCGGGCGCGGATT	0.746																																						ENST00000375774.3																			1	Substitution - Missense(1)	p.G136W(1)	lung(1)	endometrium(4)|large_intestine(6)|lung(1)|ovary(1)	12						c.(406-408)Ggg>Tgg		inhibitor of growth family, member 1							9	12	11					13																	111368196		1998	4049	6047	SO:0001583	missense	3621				cell cycle|negative regulation of cell growth|negative regulation of cell proliferation	nucleus	zinc ion binding	g.chr13:111368196G>T		CCDS9515.1, CCDS9516.1, CCDS9517.1, CCDS9518.1	13q34	2013-01-28			ENSG00000153487	ENSG00000153487		"Zinc fingers, PHD-type"	6062	protein-coding gene	gene with protein product	"inhibitor of growth 1", "tumor suppressor ING1", "growth inhibitor ING1", "growth inhibitory protein ING1"	601566				8944021, 9186514	Standard	NM_198219		Approved	p33ING1, p33ING1b, p24ING1c, p33, p47, p47ING1a	uc001vri.3	Q9UK53	OTTHUMG00000017346	ENST00000375774.3:c.406G>T	13.37:g.111368196G>T	ENSP00000364929:p.Gly136Trp					ING1_ENST00000333219.7_Intron|ING1_ENST00000338450.7_Intron|ING1_ENST00000375775.3_Intron|ING1_ENST00000464141.1_Intron	p.G136W	NM_005537.4	NP_005528.3	Q9UK53	ING1_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.188)		1	868	+	all_lung(23;3.61e-05)|Lung NSC(43;0.00144)|Lung SC(71;0.0753)|all_neural(89;0.077)|Medulloblastoma(90;0.148)		136					O00532|O43658|Q53ZR3|Q5T9G8|Q5T9G9|Q5T9H0|Q5T9H1|Q9H007|Q9HD98|Q9HD99|Q9NS83|Q9P0U6|Q9UBC6|Q9UIJ1|Q9UIJ2|Q9UIJ3|Q9UIJ4|Q9UK52	Missense_Mutation	SNP	ENST00000375774.3	37	c.406G>T	CCDS9517.1	.	.	.	.	.	.	.	.	.	.	G	15.94	2.982512	0.53827	.	.	ENSG00000153487	ENST00000375774	T	0.58940	0.3	3.06	2.19	0.27852	.	.	.	.	.	T	0.56863	0.2014	N	0.19112	0.55	0.09310	N	1	D	0.89917	1.0	D	0.81914	0.995	T	0.41034	-0.9531	9	0.87932	D	0	-6.3379	5.3466	0.16012	0.1615:0.0:0.8385:0.0	.	136	Q9UK53	ING1_HUMAN	W	136	ENSP00000364929:G136W	ENSP00000364929:G136W	G	+	1	0	ING1	110166197	0.022000	0.18835	0.235000	0.24058	0.003000	0.03518	1.581000	0.36558	1.714000	0.51371	0.511000	0.50034	GGG		0.746	ING1-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000045770.2	NM_005537		10	10	1	0	7.48243e-07	1	8.02992e-07	10	10					T	111368196	G	T	111368196	3	4	400	1	0	0	0	0	1	0	0	0	7735	1116	39	5	556	5	ING1	13	111368196	Missense_Mutation	SNP	G	TCGA-VN-A88K-01A-11D-A34U-08		111368196	3801682	20	19514											
PDILT	204474	broad.mit.edu	37	chr16	20410495	20410495	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcgttagcactaggagactgCgttcctccaggatgtgcaca	9	9	12	11	2	0	1	0	0	0	1	2	3	2	2	2	2	3	4	2	2	2	3			TCGA-VN-A88K-01A-11D-A34U-08	TCGA-VN-A88K-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89d2e3cb-1a54-4f5b-93e9-e2ce8cb8074c	6b34e884-089c-4069-97e8-1cf89b756557	g.chr16:20410495C>T	ENST00000302451.4	-	2	376	c.128G>A	c.(127-129)cGc>cAc	p.R43H		NM_174924.1	NP_777584.1	Q8N807	PDILT_HUMAN	protein disulfide isomerase-like, testis expressed	43					cell migration (GO:0016477)|cell redox homeostasis (GO:0045454)|multicellular organismal development (GO:0007275)|protein folding (GO:0006457)|spermatid development (GO:0007286)	endoplasmic reticulum (GO:0005783)	protein disulfide isomerase activity (GO:0003756)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(33)|prostate(3)|skin(1)|urinary_tract(1)	61						TAGGAGACTGCGTTCCTCCAG	0.592																																						ENST00000302451.4																			0				breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(33)|prostate(3)|skin(1)|urinary_tract(1)	61						c.(127-129)cGc>cAc		protein disulfide isomerase-like, testis expressed							156	142	147					16																	20410495		2203	4300	6503	SO:0001583	missense	204474				cell differentiation|cell redox homeostasis|multicellular organismal development|spermatogenesis	endoplasmic reticulum	isomerase activity	g.chr16:20410495C>T		CCDS10584.1	16p12.3	2011-11-10	2009-02-23		ENSG00000169340	ENSG00000169340		"Protein disulfide isomerases"	27338	protein-coding gene	gene with protein product	"protein disulfide isomerase family A, member 7", "protein disulfide isomerase-like protein of the testis"					15475357	Standard	NM_174924		Approved	PDIA7	uc002dhc.1	Q8N807	OTTHUMG00000131487	ENST00000302451.4:c.128G>A	16.37:g.20410495C>T	ENSP00000305465:p.Arg43His						p.R43H	NM_174924.1	NP_777584.1	Q8N807	PDILT_HUMAN			2	376	-			43					Q8IVQ5	Missense_Mutation	SNP	ENST00000302451.4	37	c.128G>A	CCDS10584.1	.	.	.	.	.	.	.	.	.	.	C	11.24	1.581482	0.28180	.	.	ENSG00000169340	ENST00000302451	T	0.03094	4.05	4.21	-5.08	0.02929	Thioredoxin-like fold (2);	2.670990	0.00877	N	0.002086	T	0.02688	0.0081	N	0.08118	0	0.09310	N	1	B	0.13594	0.008	B	0.06405	0.002	T	0.40701	-0.9549	10	0.37606	T	0.19	.	12.4944	0.55918	0.0:0.2179:0.0:0.7821	.	43	Q8N807	PDILT_HUMAN	H	43	ENSP00000305465:R43H	ENSP00000305465:R43H	R	-	2	0	PDILT	20317996	0.000000	0.05858	0.000000	0.03702	0.322000	0.28314	-1.299000	0.02754	-1.145000	0.02858	-0.469000	0.05056	CGC		0.592	PDILT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254332.1	NM_174924		40	53	0	0	0	1	0	40	53					T	20410495	C	T	20410495	3	4	400	1	0	0	0	0	1	0	0	0	11674	768	27	1	1670	1	PDILT	16	20410495	Missense_Mutation	SNP	C	TCGA-VN-A88K-01A-11D-A34U-08		20410495	69944258	21	19515											
PHKB	5257	broad.mit.edu	37	chr16	47697603	47697603	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctaggtaccgtttctgatcAcattgagagagtctatagaa	12	13	9	7	1	4	4	1	2	3	2	4	5	4	4	1	1	1	2	1	1	5	6			TCGA-VN-A88K-01A-11D-A34U-08	TCGA-VN-A88K-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89d2e3cb-1a54-4f5b-93e9-e2ce8cb8074c	6b34e884-089c-4069-97e8-1cf89b756557	g.chr16:47697603A>G	ENST00000323584.5	+	24	2318	c.2294A>G	c.(2293-2295)cAc>cGc	p.H765R	PHKB_ENST00000299167.8_Missense_Mutation_p.H765R|PHKB_ENST00000455779.1_Missense_Mutation_p.H758R|PHKB_ENST00000566044.1_Missense_Mutation_p.H758R	NM_000293.2	NP_000284.1	Q93100	KPBB_HUMAN	phosphorylase kinase, beta	765					carbohydrate metabolic process (GO:0005975)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|glycogen metabolic process (GO:0005977)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|phosphorylase kinase complex (GO:0005964)|plasma membrane (GO:0005886)	hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)|phosphorylase kinase activity (GO:0004689)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|liver(1)|lung(18)|ovary(1)|skin(1)	41		all_cancers(37;0.00447)|all_lung(18;0.00616)|Lung NSC(13;0.0418)|Breast(268;0.203)				GTTTCTGATCACATTGAGAGA	0.328																																						ENST00000455779.1																			0				breast(2)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|liver(1)|lung(18)|ovary(1)|skin(1)	41						c.(2272-2274)cAc>cGc		phosphorylase kinase, beta							209	189	196					16																	47697603		2201	4300	6501	SO:0001583	missense	5257				glucose metabolic process|glycogen catabolic process	cytosol|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity	g.chr16:47697603A>G		CCDS10729.1, CCDS42161.1	16q12-q13	2009-07-10			ENSG00000102893	ENSG00000102893	2.7.11.19		8927	protein-coding gene	gene with protein product		172490					Standard	NM_000293		Approved		uc002eev.4	Q93100	OTTHUMG00000133102	ENST00000323584.5:c.2294A>G	16.37:g.47697603A>G	ENSP00000313504:p.His765Arg					PHKB_ENST00000323584.5_Missense_Mutation_p.H765R|PHKB_ENST00000566044.1_Missense_Mutation_p.H758R|PHKB_ENST00000299167.8_Missense_Mutation_p.H765R	p.H758R			Q93100	KPBB_HUMAN			25	2458	+		all_cancers(37;0.00447)|all_lung(18;0.00616)|Lung NSC(13;0.0418)|Breast(268;0.203)	765					Q8N4T5	Missense_Mutation	SNP	ENST00000323584.5	37	c.2273A>G	CCDS10729.1	.	.	.	.	.	.	.	.	.	.	A	9.351	1.065456	0.20067	.	.	ENSG00000102893	ENST00000299167;ENST00000455779;ENST00000323584	D;D	0.88277	-2.36;-2.36	5.73	4.64	0.57946	Glycoside hydrolase 15-related (1);	0.486738	0.24368	N	0.039139	T	0.75729	0.3889	N	0.11927	0.2	0.32291	N	0.566315	B;B	0.12630	0.0;0.006	B;B	0.09377	0.004;0.002	T	0.69355	-0.5167	10	0.20046	T	0.44	-13.5461	7.0361	0.24995	0.7992:0.0:0.0699:0.1308	.	765;758	Q93100;Q93100-4	KPBB_HUMAN;.	R	758;758;765	ENSP00000414345:H758R;ENSP00000313504:H765R	ENSP00000299167:H758R	H	+	2	0	PHKB	46255104	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.959000	0.56744	0.984000	0.38629	0.533000	0.62120	CAC		0.328	PHKB-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000430413.1			36	49	0	0	0	1	0	36	49					G	47697603	A	G	47697603	3	3	400	1	0	0	0	0	1	0	0	0	11845	159	6	4	2447	4	PHKB	16	47697603	Missense_Mutation	SNP	A	TCGA-VN-A88K-01A-11D-A34U-08	27287108	47697603	42657150	22	19516											
MBTPS1	8720	broad.mit.edu	37	chr16	84124506	84124506	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agaggtccgtcattgccaatAgcagaaaccatgattacatt	14	10	8	9	1	1	3	1	1	0	2	2	3	2	3	3	1	4	1	3	1	4	4			TCGA-VN-A88K-01A-11D-A34U-08	TCGA-VN-A88K-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89d2e3cb-1a54-4f5b-93e9-e2ce8cb8074c	6b34e884-089c-4069-97e8-1cf89b756557	g.chr16:84124506A>T	ENST00000343411.3	-	8	1500	c.1005T>A	c.(1003-1005)gcT>gcA	p.A335A	MBTPS1_ENST00000569770.1_5'UTR	NM_003791.2	NP_003782.1	Q14703	MBTP1_HUMAN	membrane-bound transcription factor peptidase, site 1	335	Peptidase S8.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|cholesterol metabolic process (GO:0008203)|endoplasmic reticulum unfolded protein response (GO:0030968)|lipid metabolic process (GO:0006629)|lysosome organization (GO:0007040)|proteolysis (GO:0006508)|regulation of transcription factor import into nucleus (GO:0042990)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum lumen (GO:0005788)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)	serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(10)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						CATTGCCAATAGCAGAAACCA	0.373																																						ENST00000343411.3																			0				NS(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(10)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						c.(1003-1005)gcT>gcA		membrane-bound transcription factor peptidase, site 1							126	118	120					16																	84124506		2200	4300	6500	SO:0001819	synonymous_variant	8720				cholesterol metabolic process|proteolysis	endoplasmic reticulum lumen|endoplasmic reticulum membrane|Golgi membrane|integral to membrane	serine-type endopeptidase activity	g.chr16:84124506A>T	D42053	CCDS10941.1	16q24	2008-08-04	2005-08-17		ENSG00000140943	ENSG00000140943			15456	protein-coding gene	gene with protein product		603355	"membrane-bound transcription factor protease, site 1"			9809072, 10944850	Standard	NM_003791		Approved	S1P, KIAA0091, SKI-1, PCSK8	uc002fhi.3	Q14703	OTTHUMG00000137639	ENST00000343411.3:c.1005T>A	16.37:g.84124506A>T						MBTPS1_ENST00000569770.1_5'UTR	p.A335A	NM_003791.2	NP_003782.1	Q14703	MBTP1_HUMAN			8	1500	-			335			Serine protease.		A8K6V8|Q24JQ2|Q9UF67	Silent	SNP	ENST00000343411.3	37	c.1005T>A	CCDS10941.1																																																																																				0.373	MBTPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269080.2	NM_003791		11	72	0	0	0	1	0	11	72					T	84124506	A	T	84124506	2	4	400	1	0	0	0	0	0	0	0	1	9361	407	15	5		5	MBTPS1	16	84124506	Silent	SNP	A	TCGA-VN-A88K-01A-11D-A34U-08	36426903	84124506	6230247	23	19517											
BRIP1	83990	broad.mit.edu	37	chr17	59858254	59858254	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgaactgcagttttctgtcGtgaacgtttcttattttttg	7	20	8	6	2	2	2	0	2	2	0	3	2	2	2	0	0	3	3	0	0	3	7			TCGA-VN-A88K-01A-11D-A34U-08	TCGA-VN-A88K-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89d2e3cb-1a54-4f5b-93e9-e2ce8cb8074c	6b34e884-089c-4069-97e8-1cf89b756557	g.chr17:59858254G>A	ENST00000259008.2	-	12	2008	c.1741C>T	c.(1741-1743)Cga>Tga	p.R581*	BRIP1_ENST00000577598.1_Nonsense_Mutation_p.R581*|BRIP1_ENST00000583837.1_5'Flank	NM_032043.2	NP_114432.2	Q9BX63	FANCJ_HUMAN	BRCA1 interacting protein C-terminal helicase 1	581					DNA damage checkpoint (GO:0000077)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(3)|endometrium(9)|kidney(5)|large_intestine(9)|liver(2)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	55						GTTTTCTGTCGTGAACGTTTC	0.358			"F, N, Mis"			"AML, leukemia, breast"		Involved in tolerance or repair of DNA crosslinks																														ENST00000259008.2			yes	Rec		"Fanconi anaemia J, breast cancer susceptiblity"	17	17q22	83990	"F, N, Mis"	BRCA1 interacting protein C-terminal helicase 1			"L, E"		"AML, leukemia, breast"			0				NS(1)|breast(3)|endometrium(9)|kidney(5)|large_intestine(9)|liver(2)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	55						c.(1741-1743)Cga>Tga	Involved in tolerance or repair of DNA crosslinks	BRCA1 interacting protein C-terminal helicase 1							148	133	138					17																	59858254		2203	4300	6503	SO:0001587	stop_gained	83990				DNA damage checkpoint|double-strand break repair|regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding	g.chr17:59858254G>A	AF360549	CCDS11631.1	17q22.2	2014-09-17				ENSG00000136492		"Fanconi anemia, complementation groups"	20473	protein-coding gene	gene with protein product	"BRCA1/BRCA2-associated helicase 1"	605882				11595410, 11301010	Standard	NM_032043		Approved	OF, BACH1, FANCJ	uc002izk.2	Q9BX63		ENST00000259008.2:c.1741C>T	17.37:g.59858254G>A	ENSP00000259008:p.Arg581*					BRIP1_ENST00000577598.1_Nonsense_Mutation_p.R581*	p.R581*	NM_032043.2	NP_114432.2	Q9BX63	FANCJ_HUMAN			12	2008	-			581					Q3MJE2|Q8NCI5	Nonsense_Mutation	SNP	ENST00000259008.2	37	c.1741C>T	CCDS11631.1	.	.	.	.	.	.	.	.	.	.	G	40	8.236381	0.98719	.	.	ENSG00000136492	ENST00000259008	.	.	.	5.25	1.64	0.23874	.	0.307233	0.25122	N	0.032975	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-4.3146	14.1973	0.65679	0.0:0.0:0.5503:0.4497	.	.	.	.	X	581	.	.	R	-	1	2	BRIP1	57213036	0.890000	0.30428	0.995000	0.50966	0.982000	0.71751	0.885000	0.28227	0.530000	0.28619	0.655000	0.94253	CGA		0.358	BRIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445362.1	NM_032043		36	76	0	0	0	1	0	36	76					A	59858254	G	A	59858254	4	1	400	1	0	0	0	0	0	1	0	0	1514	1153	40	1	2044	1	BRIP1	17	59858254	Nonsense_Mutation	SNP	G	TCGA-VN-A88K-01A-11D-A34U-08		59858254	21336956	24	19518											
CACNA1A	773	broad.mit.edu	37	chr19	13366064	13366064	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcgctgatggcgaaatcaaTgcaggccctctgcgggagag	9	6	16	10	3	2	2	1	1	1	1	2	4	2	2	1	4	2	2	1	4	2	0			TCGA-VN-A88K-01A-11D-A34U-08	TCGA-VN-A88K-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89d2e3cb-1a54-4f5b-93e9-e2ce8cb8074c	6b34e884-089c-4069-97e8-1cf89b756557	g.chr19:13366064T>C	ENST00000360228.5	-	29	4599	c.4600A>G	c.(4600-4602)Att>Gtt	p.I1534V	CACNA1A_ENST00000573710.2_Missense_Mutation_p.I1535V|CACNA1A_ENST00000574822.1_5'Flank	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	1535					adult walking behavior (GO:0007628)|behavioral response to pain (GO:0048266)|calcium ion import (GO:0070509)|calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cell death (GO:0008219)|cell growth (GO:0016049)|cellular chloride ion homeostasis (GO:0030644)|cerebellar molecular layer development (GO:0021679)|cerebellar Purkinje cell differentiation (GO:0021702)|cerebellum maturation (GO:0021590)|dendrite morphogenesis (GO:0048813)|energy reserve metabolic process (GO:0006112)|gamma-aminobutyric acid secretion (GO:0014051)|gamma-aminobutyric acid signaling pathway (GO:0007214)|glucose metabolic process (GO:0006006)|hormone metabolic process (GO:0042445)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|musculoskeletal movement, spinal reflex action (GO:0050883)|negative regulation of hormone biosynthetic process (GO:0032353)|negative regulation of neuron apoptotic process (GO:0043524)|neuromuscular process controlling balance (GO:0050885)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter metabolic process (GO:0042133)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|receptor clustering (GO:0043113)|regulation of acetylcholine secretion, neurotransmission (GO:0014056)|regulation of axonogenesis (GO:0050770)|regulation of calcium ion-dependent exocytosis (GO:0017158)|regulation of insulin secretion (GO:0050796)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|spinal cord motor neuron differentiation (GO:0021522)|sulfur amino acid metabolic process (GO:0000096)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transmission of nerve impulse (GO:0019226)|vestibular nucleus development (GO:0021750)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|syntaxin binding (GO:0019905)|voltage-gated calcium channel activity (GO:0005245)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Loperamide(DB00836)|Pregabalin(DB00230)|Spironolactone(DB00421)|Verapamil(DB00661)	GCGAAATCAATGCAGGCCCTC	0.617																																						ENST00000360228.5																			0				breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42						c.(4600-4602)Att>Gtt		calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)						42	46	45					19																	13366064		2117	4215	6332	SO:0001583	missense	773				cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding	g.chr19:13366064T>C	U79666	CCDS45998.1, CCDS45999.1	19p13	2014-09-17			ENSG00000141837	ENSG00000141837		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1388	protein-coding gene	gene with protein product		601011		CACNL1A4, SCA6, MHP1, MHP		8825650, 16382099, 23827678	Standard	NM_000068		Approved	Cav2.1, EA2, APCA, HPCA, FHM	uc010xne.2	O00555	OTTHUMG00000044590	ENST00000360228.5:c.4600A>G	19.37:g.13366064T>C	ENSP00000353362:p.Ile1534Val					CACNA1A_ENST00000573710.2_Missense_Mutation_p.I1535V	p.I1534V	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		29	4599	-			1535					J3KP41|P78510|P78511|Q16290|Q92690|Q99790|Q99791|Q99792|Q99793|Q9NS88|Q9UDC4	Missense_Mutation	SNP	ENST00000360228.5	37	c.4600A>G	CCDS45998.1	.	.	.	.	.	.	.	.	.	.	T	11.27	1.587828	0.28268	.	.	ENSG00000141837	ENST00000360228;ENST00000418012;ENST00000357018;ENST00000325084;ENST00000445042	D	0.96300	-3.97	4.99	4.99	0.66335	.	0.181808	0.43919	D	0.000501	D	0.96892	0.8985	L	0.52011	1.625	0.58432	D	0.999998	P;P;D;P	0.59357	0.735;0.674;0.985;0.545	B;B;D;B	0.67548	0.232;0.409;0.952;0.232	D	0.96809	0.9595	10	0.48119	T	0.1	.	13.7495	0.62899	0.0:0.0:0.0:1.0	.	1535;1538;1534;1535	O00555;E9PD31;Q9NS88;E7EVF2	CAC1A_HUMAN;.;.;.	V	1534;1538;1535;1535;151	ENSP00000353362:I1534V	ENSP00000317661:I1535V	I	-	1	0	CACNA1A	13227064	1.000000	0.71417	1.000000	0.80357	0.330000	0.28571	7.931000	0.87625	1.890000	0.54733	0.524000	0.50904	ATT		0.617	CACNA1A-001	KNOWN	non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000104062.2	NM_000068		10	13	0	0	0	1	0	10	13					C	13366064	T	C	13366064	3	2	400	1	0	0	0	0	1	0	0	0	2538	1464	51	4	3098	4	CACNA1A	19	13366064	Missense_Mutation	SNP	T	TCGA-VN-A88K-01A-11D-A34U-08		13366064	45762919	25	19519											
IRGQ	126298	broad.mit.edu	37	chr19	44096613	44096613	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agagctggcctccacgccccGgctcgcaacgccgcagcctt	6	5	11	19	5	0	1	0	0	0	1	2	1	1	1	6	2	3	4	6	2	1	1			TCGA-VN-A88K-01A-11D-A34U-08	TCGA-VN-A88K-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89d2e3cb-1a54-4f5b-93e9-e2ce8cb8074c	6b34e884-089c-4069-97e8-1cf89b756557	g.chr19:44096613G>A	ENST00000602269.1	-	2	1622	c.1437C>T	c.(1435-1437)gcC>gcT	p.A479A	IRGQ_ENST00000601520.1_Intron|IRGQ_ENST00000422989.1_Silent_p.A479A|L34079.2_ENST00000594374.1_Intron			Q8WZA9	IRGQ_HUMAN	immunity-related GTPase family, Q	479	Ala-rich.									endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(3)	18		Prostate(69;0.0199)				TCCACGCCCCGGCTCGCAACG	0.736																																						ENST00000422989.1																			0				endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(3)	18						c.(1435-1437)gcC>gcT		immunity-related GTPase family, Q							4	6	5					19																	44096613		1758	3535	5293	SO:0001819	synonymous_variant	126298						protein binding	g.chr19:44096613G>A	AF322648	CCDS33040.1	19q13.31	2013-07-03	2005-10-31	2005-10-31		ENSG00000167378			24868	protein-coding gene	gene with protein product			"immunity-related GTPase family, Q1"	IRGQ1		16277747	Standard	NM_001007561		Approved	FKSG27	uc010eiv.2	Q8WZA9		ENST00000602269.1:c.1437C>T	19.37:g.44096613G>A						IRGQ_ENST00000602269.1_Silent_p.A479A|IRGQ_ENST00000601520.1_Intron|L34079.2_ENST00000594374.1_Intron	p.A479A	NM_001007561.2	NP_001007562.1	Q8WZA9	IRGQ_HUMAN			3	1592	-		Prostate(69;0.0199)	479			Ala-rich.		B2RNP3	Silent	SNP	ENST00000602269.1	37	c.1437C>T	CCDS33040.1																																																																																				0.736	IRGQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463205.1	NM_001007561		4	8	0	0	0	1	0	4	8					A	44096613	G	A	44096613	2	1	400	1	0	0	0	0	0	0	0	1	7839	1103	39	2		2	IRGQ	19	44096613	Silent	SNP	G	TCGA-VN-A88K-01A-11D-A34U-08	30730549	44096613	15032370	26	19520											
PHF21B	112885	broad.mit.edu	37	chr22	45312456	45312456	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgggggctgcttgggtggccGgtcccggcccggggcaacgg	2	6	21	12	4	0	0	0	0	0	0	1	0	1	0	3	9	2	3	3	9	1	1			TCGA-VN-A88K-01A-11D-A34U-08	TCGA-VN-A88K-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89d2e3cb-1a54-4f5b-93e9-e2ce8cb8074c	6b34e884-089c-4069-97e8-1cf89b756557	g.chr22:45312456G>A	ENST00000313237.5	-	4	418	c.268C>T	c.(268-270)Cgg>Tgg	p.R90W	PHF21B_ENST00000396103.3_Missense_Mutation_p.R90W|PHF21B_ENST00000447824.3_Missense_Mutation_p.R78W|PHF21B_ENST00000404079.2_Missense_Mutation_p.R78W|PHF21B_ENST00000403565.1_5'UTR	NM_138415.4	NP_612424.1	Q96EK2	PF21B_HUMAN	PHD finger protein 21B	90							zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(14)|ovary(2)|prostate(1)|skin(2)	25		all_neural(38;0.00802)|Glioma(61;0.0353)|Ovarian(80;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0203)		TTGGGTGGCCGGTCCCGGCCC	0.627																																						ENST00000313237.5																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(14)|ovary(2)|prostate(1)|skin(2)	25						c.(268-270)Cgg>Tgg		PHD finger protein 21B							41	46	44					22																	45312456		2203	4299	6502	SO:0001583	missense	112885						zinc ion binding	g.chr22:45312456G>A	AK091480	CCDS14061.1, CCDS56234.1, CCDS63504.1	22q13.31	2013-01-28			ENSG00000056487	ENSG00000056487		"Zinc fingers, PHD-type"	25161	protein-coding gene	gene with protein product			"PHD finger protein 4"	PHF4		12477932	Standard	NM_138415		Approved	BHC80L, FLJ34161	uc011aql.2	Q96EK2	OTTHUMG00000151199	ENST00000313237.5:c.268C>T	22.37:g.45312456G>A	ENSP00000324403:p.Arg90Trp					PHF21B_ENST00000447824.3_Missense_Mutation_p.R78W|PHF21B_ENST00000396103.3_Missense_Mutation_p.R90W|PHF21B_ENST00000403565.1_5'UTR|PHF21B_ENST00000404079.2_Missense_Mutation_p.R78W	p.R90W	NM_138415.4	NP_612424.1	Q96EK2	PF21B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.0203)	4	418	-		all_neural(38;0.00802)|Glioma(61;0.0353)|Ovarian(80;0.0731)	90					B0QYW3|B0QYW4|B3KRU4|B7Z4F8|Q5TFL2|Q6ICC0	Missense_Mutation	SNP	ENST00000313237.5	37	c.268C>T	CCDS14061.1	.	.	.	.	.	.	.	.	.	.	G	25.3	4.624329	0.87560	.	.	ENSG00000056487	ENST00000313237;ENST00000396103;ENST00000404079;ENST00000447824;ENST00000420689	T;T;T;T;T	0.26810	1.71;1.71;1.71;1.71;1.71	5.06	4.01	0.46588	.	0.484333	0.18657	N	0.134824	T	0.39784	0.1091	L	0.40543	1.245	0.33043	D	0.531695	D;D;D;D	0.89917	1.0;0.999;0.999;1.0	D;P;P;P	0.64237	0.923;0.862;0.732;0.794	T	0.52094	-0.8621	10	0.72032	D	0.01	-4.4185	14.8942	0.70630	0.0:0.0:0.8564:0.1436	.	78;90;78;90	B7Z657;Q96EK2-3;B7Z4F8;Q96EK2	.;.;.;PF21B_HUMAN	W	90;90;78;78;78	ENSP00000324403:R90W;ENSP00000379410:R90W;ENSP00000385105:R78W;ENSP00000388619:R78W;ENSP00000401294:R78W	ENSP00000324403:R90W	R	-	1	2	PHF21B	43691120	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.549000	0.67261	2.346000	0.79739	0.655000	0.94253	CGG		0.627	PHF21B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000321731.2	NM_138415		15	29	0	0	0	1	0	15	29					A	45312456	G	A	45312456	3	1	400	1	0	0	0	0	1	0	0	0	11834	1115	39	2	1367	2	PHF21B	22	45312456	Missense_Mutation	SNP	G	TCGA-VN-A88K-01A-11D-A34U-08		45312456	5992110	27	19521											
RNF113A	7737	broad.mit.edu	37	chrX	119005303	119005303	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cacgccgagactctcgggctCattttcctcttcctcttcgc	4	13	7	17	4	4	1	1	0	3	1	8	2	6	1	3	1	0	1	3	1	0	4			TCGA-VN-A88K-01A-11D-A34U-08	TCGA-VN-A88K-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89d2e3cb-1a54-4f5b-93e9-e2ce8cb8074c	6b34e884-089c-4069-97e8-1cf89b756557	g.chrX:119005303C>T	ENST00000371442.2	-	1	488	c.274G>A	c.(274-276)Gag>Aag	p.E92K	NDUFA1_ENST00000371437.4_5'Flank	NM_006978.2	NP_008909.1	O15541	R113A_HUMAN	ring finger protein 113A	92	Poly-Glu.						zinc ion binding (GO:0008270)			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(6)	15						CTCTCGGGCTCATTTTCCTCT	0.547																																						ENST00000371442.2																			0				NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(6)	15						c.(274-276)Gag>Aag		ring finger protein 113A							162	161	161					X																	119005303		2203	4300	6503	SO:0001583	missense	7737						nucleic acid binding|zinc ion binding	g.chrX:119005303C>T	X98253	CCDS14589.1	Xq24	2013-10-22	2005-03-22	2005-03-22	ENSG00000125352	ENSG00000125352		"RING-type (C3HC4) zinc fingers"	12974	protein-coding gene	gene with protein product			"zinc finger protein 183 (RING finger, C3HC4 type)"	ZNF183		9224902	Standard	NM_006978		Approved	RNF113, Cwc24	uc004esb.3	O15541	OTTHUMG00000022283	ENST00000371442.2:c.274G>A	X.37:g.119005303C>T	ENSP00000360497:p.Glu92Lys						p.E92K	NM_006978.2	NP_008909.1	O15541	R113A_HUMAN			1	488	-			92			Poly-Glu.		B2RBR7	Missense_Mutation	SNP	ENST00000371442.2	37	c.274G>A	CCDS14589.1	.	.	.	.	.	.	.	.	.	.	C	8.723	0.914831	0.17907	.	.	ENSG00000125352	ENST00000371442	T	0.31510	1.49	5.49	4.63	0.57726	.	0.582240	0.18241	N	0.147224	T	0.19167	0.0460	L	0.29908	0.895	0.09310	N	1	B	0.11235	0.004	B	0.06405	0.002	T	0.26985	-1.0087	10	0.12430	T	0.62	-33.4748	7.7603	0.28948	0.0:0.808:0.0:0.192	.	92	O15541	R113A_HUMAN	K	92	ENSP00000360497:E92K	ENSP00000360497:E92K	E	-	1	0	RNF113A	118889331	0.001000	0.12720	0.002000	0.10522	0.308000	0.27856	0.639000	0.24690	1.108000	0.41662	0.600000	0.82982	GAG		0.547	RNF113A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058071.1	NM_006978		116	26	0	0	0	1	0	116	26					T	119005303	C	T	119005303	3	4	400	1	0	0	0	0	1	0	0	0	13427	835	29	3	761	3	RNF113A	23	119005303	Missense_Mutation	SNP	C	TCGA-VN-A88K-01A-11D-A34U-08		119005303	36265257	28	19522											
GPR50	9248	broad.mit.edu	37	chrX	150345372	150345372	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gacgaagaacaagaagctccGgaattctggtaagccacccc	14	5	10	12	2	1	2	0	0	1	2	2	5	2	3	4	2	3	2	4	2	6	2	rs375887607		TCGA-VN-A88K-01A-11D-A34U-08	TCGA-VN-A88K-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89d2e3cb-1a54-4f5b-93e9-e2ce8cb8074c	6b34e884-089c-4069-97e8-1cf89b756557	g.chrX:150345372G>A	ENST00000218316.3	+	1	248	c.179G>A	c.(178-180)cGg>cAg	p.R60Q	GPR50-AS1_ENST00000454196.1_RNA	NM_004224.3	NP_004215.2	Q13585	MTR1L_HUMAN	G protein-coupled receptor 50	60					cell-cell signaling (GO:0007267)|G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)|identical protein binding (GO:0042802)|melatonin receptor activity (GO:0008502)	p.R60Q(2)		breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	38	Acute lymphoblastic leukemia(192;6.56e-05)					AAGAAGCTCCGGAATTCTGGT	0.483																																						ENST00000218316.3																			2	Substitution - Missense(2)	p.R60Q(2)	large_intestine(2)	breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	38						c.(178-180)cGg>cAg		G protein-coupled receptor 50		C	GLN/ARG	0,3240		0,0,1335,570	134	130	131		179	3.5	1	X		131	1,6429		0,1,2323,1782	no	missense	GPR50	NM_004224.3	43	0,1,3658,2352	AA,AG,GG,G		0.0156,0.0,0.0103	possibly-damaging	60/618	150345372	1,9669	1905	4106	6011	SO:0001583	missense	9248				cell-cell signaling	integral to plasma membrane	melatonin receptor activity	g.chrX:150345372G>A	U52219	CCDS44012.1	Xq28	2012-08-21			ENSG00000102195	ENSG00000102195		"GPCR / Class A : Orphans"	4506	protein-coding gene	gene with protein product		300207				9933574, 18400093	Standard	NM_004224		Approved	H9, Mel1c	uc010ntg.2	Q13585	OTTHUMG00000024166	ENST00000218316.3:c.179G>A	X.37:g.150345372G>A	ENSP00000218316:p.Arg60Gln					GPR50-AS1_ENST00000454196.1_RNA	p.R60Q	NM_004224.3	NP_004215.2	Q13585	MTR1L_HUMAN			1	248	+	Acute lymphoblastic leukemia(192;6.56e-05)		60					Q0VGG3|Q3ZAR0	Missense_Mutation	SNP	ENST00000218316.3	37	c.179G>A	CCDS44012.1	.	.	.	.	.	.	.	.	.	.	g	11.10	1.538218	0.27475	0.0	1.56E-4	ENSG00000102195	ENST00000535473;ENST00000218316	T	0.42131	0.98	4.4	3.54	0.40534	GPCR, rhodopsin-like superfamily (1);	0.367002	0.26708	N	0.022905	T	0.38401	0.1039	M	0.62154	1.92	0.28944	N	0.890819	P;P	0.44734	0.842;0.61	B;B	0.39805	0.213;0.31	T	0.39251	-0.9623	10	0.54805	T	0.06	0.2889	9.3733	0.38268	0.0:0.2123:0.7877:0.0	.	13;60	F5H1S3;Q13585	.;MTR1L_HUMAN	Q	13;60	ENSP00000218316:R60Q	ENSP00000218316:R60Q	R	+	2	0	GPR50	150096030	1.000000	0.71417	0.994000	0.49952	0.131000	0.20780	3.236000	0.51336	0.877000	0.35895	-0.701000	0.03672	CGG		0.483	GPR50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060874.1	NM_004224		52	11	0	0	0	1	0	52	11					A	150345372	G	A	150345372	3	1	400	1	0	0	0	0	1	0	0	0	6697	1116	39	2	181	2	GPR50	23	150345372	Missense_Mutation	SNP	G	TCGA-VN-A88K-01A-11D-A34U-08	31340069	150345372	4925188	29	19523											
FAF1	11124	broad.mit.edu	37	chr1	51048295	51048295	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcaaactgtacttacatctcGggctttcacatagaaggcct	11	12	7	11	1	3	1	2	0	1	1	4	1	3	1	1	2	3	2	1	2	5	4			TCGA-VN-A88L-01A-11D-A34U-08	TCGA-VN-A88L-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ee4cc9c-82a2-4d65-9b90-7263e4dc6164	46d69be0-f87a-48cd-8096-675fec8dea31	g.chr1:51048295G>A	ENST00000396153.2	-	12	1559	c.1108C>T	c.(1108-1110)Cga>Tga	p.R370*	FAF1_ENST00000545823.1_Nonsense_Mutation_p.R128*|FAF1_ENST00000472808.1_5'UTR|FAF1_ENST00000371778.4_Nonsense_Mutation_p.R370*|RNU6-1026P_ENST00000384465.1_RNA	NM_007051.2	NP_008982.1	Q9UNN5	FAF1_HUMAN	Fas (TNFRSF6) associated factor 1	370					apoptotic process (GO:0006915)|cell death (GO:0008219)|cytoplasmic sequestering of NF-kappaB (GO:0007253)|positive regulation of apoptotic process (GO:0043065)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of protein complex assembly (GO:0031334)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|regulation of cell adhesion (GO:0030155)|regulation of protein catabolic process (GO:0042176)|regulation of protein kinase activity (GO:0045859)	CD95 death-inducing signaling complex (GO:0031265)|Cdc48p-Npl4p-Ufd1p AAA ATPase complex (GO:0034098)|cytosol (GO:0005829)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	heat shock protein binding (GO:0031072)|NF-kappaB binding (GO:0051059)|protein kinase binding (GO:0019901)|protein kinase regulator activity (GO:0019887)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)	p.R370R(1)|p.0?(1)		breast(2)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|pancreas(2)|upper_aerodigestive_tract(1)	24				GBM - Glioblastoma multiforme(3;3.18e-11)|all cancers(3;0.00526)		CTTACATCTCGGGCTTTCACA	0.373																																						ENST00000396153.2																			2	Whole gene deletion(1)|Substitution - coding silent(1)	p.R370R(1)|p.0?(1)	thyroid(1)|lung(1)	breast(2)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|pancreas(2)|upper_aerodigestive_tract(1)	24						c.(1108-1110)Cga>Tga		Fas (TNFRSF6) associated factor 1							80	87	85					1																	51048295		2203	4300	6503	SO:0001587	stop_gained	11124				apoptosis|cytoplasmic sequestering of NF-kappaB|positive regulation of apoptosis|positive regulation of protein complex assembly|proteasomal ubiquitin-dependent protein catabolic process|regulation of protein catabolic process	CD95 death-inducing signaling complex|cytosol|perinuclear region of cytoplasm	heat shock protein binding|NF-kappaB binding|protein kinase binding|protein kinase regulator activity	g.chr1:51048295G>A	AF132938	CCDS554.1	1p32.3	2012-09-20			ENSG00000185104	ENSG00000185104		"UBX domain containing"	3578	protein-coding gene	gene with protein product	"TNFRSF6-associated factor 1", "UBX domain protein 3A"	604460				10462485	Standard	NM_007051		Approved	CGI-03, hFAF1, HFAF1s, UBXD12, UBXN3A	uc001cse.1	Q9UNN5	OTTHUMG00000007930	ENST00000396153.2:c.1108C>T	1.37:g.51048295G>A	ENSP00000379457:p.Arg370*					FAF1_ENST00000545823.1_Nonsense_Mutation_p.R128*|FAF1_ENST00000371778.4_Nonsense_Mutation_p.R370*|FAF1_ENST00000472808.1_5'UTR	p.R370*	NM_007051.2	NP_008982.1	Q9UNN5	FAF1_HUMAN		GBM - Glioblastoma multiforme(3;3.18e-11)|all cancers(3;0.00526)	12	1559	-			370					Q549F0|Q9UF34|Q9UNT3|Q9Y2Z3	Nonsense_Mutation	SNP	ENST00000396153.2	37	c.1108C>T	CCDS554.1	.	.	.	.	.	.	.	.	.	.	G	25.4	4.638401	0.87760	.	.	ENSG00000185104	ENST00000396153;ENST00000371778;ENST00000545823;ENST00000371780;ENST00000543607	.	.	.	5.61	3.7	0.42460	.	0.051959	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-10.7851	13.8954	0.63768	0.0:0.0:0.4366:0.5634	.	.	.	.	X	370;370;128;210;218	.	ENSP00000360843:R370X	R	-	1	2	FAF1	50820883	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.571000	0.60879	0.685000	0.31468	0.655000	0.94253	CGA		0.373	FAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021807.1	NM_007051		4	78	0	0	0	1	0	4	78					A	51048295	G	A	51048295	4	1	401	1	0	0	0	0	0	1	0	0	5369	1124	39	2	876	2	FAF1	1	51048295	Nonsense_Mutation	SNP	G	TCGA-VN-A88L-01A-11D-A34U-08		51048295	198202326	1	19524											
C1orf173	127254	broad.mit.edu	37	chr1	75037029	75037029	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccactcccagtggctgcctcCtggccctctgacccttcctc	3	10	7	21	0	1	1	0	1	1	0	5	1	4	1	7	2	1	1	7	2	0	1			TCGA-VN-A88L-01A-11D-A34U-08	TCGA-VN-A88L-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ee4cc9c-82a2-4d65-9b90-7263e4dc6164	46d69be0-f87a-48cd-8096-675fec8dea31	g.chr1:75037029C>T	ENST00000326665.5	-	14	4583	c.4365G>A	c.(4363-4365)caG>caA	p.Q1455Q	C1orf173_ENST00000433746.2_5'UTR	NM_001002912.4	NP_001002912.4	Q5RHP9	ERIC3_HUMAN		1455	Glu-rich.									NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						TGGCTGCCTCCTGGCCCTCTG	0.592																																						ENST00000326665.5																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						c.(4363-4365)caG>caA		chromosome 1 open reading frame 173							96	90	92					1																	75037029		2203	4300	6503	SO:0001819	synonymous_variant	127254							g.chr1:75037029C>T																												ENST00000326665.5:c.4365G>A	1.37:g.75037029C>T						C1orf173_ENST00000433746.2_5'UTR	p.Q1455Q	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN			14	4583	-			1455			Glu-rich.		Q68DL8|Q6GMR8|Q6ZSF9|Q8ND41	Silent	SNP	ENST00000326665.5	37	c.4365G>A	CCDS30755.1																																																																																				0.592	C1orf173-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026516.1			8	72	0	0	0	1	0	8	72					T	75037029	C	T	75037029	2	4	401	1	0	0	0	0	0	0	0	1	2014	680	24	3		3	C1orf173	1	75037029	Silent	SNP	C	TCGA-VN-A88L-01A-11D-A34U-08	23988734	75037029	174213592	2	19525											
AKNAD1	254268	broad.mit.edu	37	chr1	109369904	109369904	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agttgatccttccgtggcccTttttctccacgttttgcttc	3	18	7	13	2	1	1	0	1	1	0	5	1	3	1	4	1	1	3	4	1	0	7			TCGA-VN-A88L-01A-11D-A34U-08	TCGA-VN-A88L-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ee4cc9c-82a2-4d65-9b90-7263e4dc6164	46d69be0-f87a-48cd-8096-675fec8dea31	g.chr1:109369904T>C	ENST00000370001.3	-	11	2127	c.1859A>G	c.(1858-1860)aAg>aGg	p.K620R	AKNAD1_ENST00000369995.3_Missense_Mutation_p.K620R|AKNAD1_ENST00000369994.1_Missense_Mutation_p.K590R|AKNAD1_ENST00000357393.4_Missense_Mutation_p.K327R	NM_152763.4	NP_689976.2	Q5T1N1	AKND1_HUMAN	AKNA domain containing 1	620						cytoplasm (GO:0005737)				breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|prostate(6)|skin(3)|stomach(2)	32						TCCGTGGCCCTTTTTCTCCAC	0.413																																						ENST00000370001.3																			0				breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|prostate(6)|skin(3)|stomach(2)	32						c.(1858-1860)aAg>aGg		AKNA domain containing 1							183	188	186					1																	109369904		2203	4299	6502	SO:0001583	missense	254268							g.chr1:109369904T>C	AK095517	CCDS791.2	1p13.3	2009-10-29	2009-10-29	2009-10-29	ENSG00000162641	ENSG00000162641			28398	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 62"	C1orf62			Standard	NM_152763		Approved	MGC26989	uc001dwa.4	Q5T1N1	OTTHUMG00000011231	ENST00000370001.3:c.1859A>G	1.37:g.109369904T>C	ENSP00000359018:p.Lys620Arg					AKNAD1_ENST00000369994.1_Missense_Mutation_p.K590R|AKNAD1_ENST00000369995.3_Missense_Mutation_p.K620R|AKNAD1_ENST00000357393.4_Missense_Mutation_p.K327R	p.K620R	NM_152763.4	NP_689976.2	Q5T1N1	AKND1_HUMAN			11	2127	-			620					B9EK62|Q5T1N0|Q8N990|Q8NCN9	Missense_Mutation	SNP	ENST00000370001.3	37	c.1859A>G	CCDS791.2	.	.	.	.	.	.	.	.	.	.	T	11.26	1.586061	0.28268	.	.	ENSG00000162641	ENST00000370001;ENST00000357393;ENST00000369994;ENST00000369995	T;T;T;T	0.22945	1.93;1.93;1.93;1.93	4.87	1.29	0.21616	.	1.029790	0.07724	N	0.944149	T	0.06962	0.0177	L	0.36672	1.1	0.09310	N	1	B;B	0.15719	0.014;0.005	B;B	0.12156	0.007;0.004	T	0.40496	-0.9560	10	0.35671	T	0.21	-2.1788	6.0331	0.19690	0.0:0.3909:0.0:0.6091	.	327;620	B4DET8;Q5T1N1	.;AKND1_HUMAN	R	620;327;590;620	ENSP00000359018:K620R;ENSP00000349968:K327R;ENSP00000359011:K590R;ENSP00000359012:K620R	ENSP00000349968:K327R	K	-	2	0	AKNAD1	109171427	0.001000	0.12720	0.001000	0.08648	0.119000	0.20118	0.136000	0.15974	0.125000	0.18397	0.379000	0.24179	AAG		0.413	AKNAD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030923.2	NM_152763		4	205	0	0	0	1	0	4	205					C	109369904	T	C	109369904	3	2	401	1	0	0	0	0	1	0	0	0	464	1609	56	4	675	4	AKNAD1	1	109369904	Missense_Mutation	SNP	T	TCGA-VN-A88L-01A-11D-A34U-08	34332875	109369904	139880717	3	19526											
HHAT	55733	broad.mit.edu	37	chr1	210637880	210637880	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttagcccaggtgctctttttCtacgtgaagtacttggtgct	6	16	10	9	1	2	1	0	1	2	0	2	1	2	1	1	2	5	3	1	2	4	6			TCGA-VN-A88L-01A-11D-A34U-08	TCGA-VN-A88L-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ee4cc9c-82a2-4d65-9b90-7263e4dc6164	46d69be0-f87a-48cd-8096-675fec8dea31	g.chr1:210637880C>T	ENST00000367010.1	+	8	1115	c.888C>T	c.(886-888)ttC>ttT	p.F296F	HHAT_ENST00000261458.3_Silent_p.F296F|HHAT_ENST00000367009.1_5'UTR|HHAT_ENST00000537898.1_Silent_p.F231F|HHAT_ENST00000545154.1_Silent_p.F297F|HHAT_ENST00000541565.1_Silent_p.F159F|HHAT_ENST00000308852.6_Silent_p.F251F|HHAT_ENST00000413764.2_Silent_p.F296F|HHAT_ENST00000545781.1_Silent_p.F233F|HHAT_ENST00000391905.3_Silent_p.F296F	NM_001170580.1	NP_001164051.1	Q5VTY9	HHAT_HUMAN	hedgehog acyltransferase	296					multicellular organismal development (GO:0007275)|protein palmitoylation (GO:0018345)|smoothened signaling pathway (GO:0007224)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	GTP binding (GO:0005525)|palmitoyltransferase activity (GO:0016409)			breast(3)|central_nervous_system(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	27				OV - Ovarian serous cystadenocarcinoma(81;0.0136)|all cancers(67;0.161)|KIRC - Kidney renal clear cell carcinoma(1967;0.215)		TGCTCTTTTTCTACGTGAAGT	0.562																																						ENST00000367010.1																			0				breast(3)|central_nervous_system(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	27						c.(886-888)ttC>ttT		hedgehog acyltransferase							223	218	220					1																	210637880		2203	4300	6503	SO:0001819	synonymous_variant	55733				multicellular organismal development	endoplasmic reticulum membrane|integral to membrane	GTP binding	g.chr1:210637880C>T	AK001586	CCDS1495.1, CCDS53471.1, CCDS53472.1, CCDS53473.1	1q32	2008-02-05			ENSG00000054392	ENSG00000054392			18270	protein-coding gene	gene with protein product		605743				11160356	Standard	NM_001170587		Approved	FLJ10724, MART-2, MART2, Skn, ski, rasp, sit, GUP2	uc009xcx.3	Q5VTY9	OTTHUMG00000036447	ENST00000367010.1:c.888C>T	1.37:g.210637880C>T						HHAT_ENST00000308852.6_Silent_p.F251F|HHAT_ENST00000391905.3_Silent_p.F296F|HHAT_ENST00000413764.2_Silent_p.F296F|HHAT_ENST00000545781.1_Silent_p.F233F|HHAT_ENST00000545154.1_Silent_p.F297F|HHAT_ENST00000537898.1_Silent_p.F231F|HHAT_ENST00000367009.1_5'UTR|HHAT_ENST00000541565.1_Silent_p.F159F|HHAT_ENST00000261458.3_Silent_p.F296F	p.F296F	NM_001170580.1	NP_001164051.1	Q5VTY9	HHAT_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0136)|all cancers(67;0.161)|KIRC - Kidney renal clear cell carcinoma(1967;0.215)	8	1115	+			296					B7Z4D5|B7Z5I1|B7Z868|B7ZA75|D3DT91|F5H444|Q17RZ7|Q4G0K3|Q5CZ95|Q5TGI2|Q9NVH9|Q9Y3N8	Silent	SNP	ENST00000367010.1	37	c.888C>T	CCDS1495.1																																																																																				0.562	HHAT-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088662.1	NM_018194		33	148	0	0	0	1	0	33	148					T	210637880	C	T	210637880	2	4	401	1	0	0	0	0	0	0	0	1	7089	912	32	3		3	HHAT	1	210637880	Silent	SNP	C	TCGA-VN-A88L-01A-11D-A34U-08	101267976	210637880	38612741	4	19527			1	42		2	2	36	C		4.40928e-05
HHAT	55733	broad.mit.edu	37	chr1	210637915	210637915	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggtgctctttggcgtgcctgCtctgctcatgcgcctggatg	2	13	14	12	2	3	0	1	0	2	0	3	1	3	1	2	3	5	3	2	3	0	1			TCGA-VN-A88L-01A-11D-A34U-08	TCGA-VN-A88L-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ee4cc9c-82a2-4d65-9b90-7263e4dc6164	46d69be0-f87a-48cd-8096-675fec8dea31	g.chr1:210637915C>T	ENST00000367010.1	+	8	1150	c.923C>T	c.(922-924)gCt>gTt	p.A308V	HHAT_ENST00000261458.3_Missense_Mutation_p.A308V|HHAT_ENST00000367009.1_5'UTR|HHAT_ENST00000537898.1_Missense_Mutation_p.A243V|HHAT_ENST00000545154.1_Missense_Mutation_p.A309V|HHAT_ENST00000541565.1_Missense_Mutation_p.A171V|HHAT_ENST00000308852.6_Missense_Mutation_p.A263V|HHAT_ENST00000413764.2_Missense_Mutation_p.A308V|HHAT_ENST00000545781.1_Missense_Mutation_p.A245V|HHAT_ENST00000391905.3_Missense_Mutation_p.A308V	NM_001170580.1	NP_001164051.1	Q5VTY9	HHAT_HUMAN	hedgehog acyltransferase	308					multicellular organismal development (GO:0007275)|protein palmitoylation (GO:0018345)|smoothened signaling pathway (GO:0007224)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	GTP binding (GO:0005525)|palmitoyltransferase activity (GO:0016409)			breast(3)|central_nervous_system(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	27				OV - Ovarian serous cystadenocarcinoma(81;0.0136)|all cancers(67;0.161)|KIRC - Kidney renal clear cell carcinoma(1967;0.215)		GGCGTGCCTGCTCTGCTCATG	0.577																																						ENST00000367010.1																			0				breast(3)|central_nervous_system(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	27						c.(922-924)gCt>gTt		hedgehog acyltransferase							195	183	187					1																	210637915		2203	4300	6503	SO:0001583	missense	55733				multicellular organismal development	endoplasmic reticulum membrane|integral to membrane	GTP binding	g.chr1:210637915C>T	AK001586	CCDS1495.1, CCDS53471.1, CCDS53472.1, CCDS53473.1	1q32	2008-02-05			ENSG00000054392	ENSG00000054392			18270	protein-coding gene	gene with protein product		605743				11160356	Standard	NM_001170587		Approved	FLJ10724, MART-2, MART2, Skn, ski, rasp, sit, GUP2	uc009xcx.3	Q5VTY9	OTTHUMG00000036447	ENST00000367010.1:c.923C>T	1.37:g.210637915C>T	ENSP00000355977:p.Ala308Val					HHAT_ENST00000308852.6_Missense_Mutation_p.A263V|HHAT_ENST00000391905.3_Missense_Mutation_p.A308V|HHAT_ENST00000413764.2_Missense_Mutation_p.A308V|HHAT_ENST00000545781.1_Missense_Mutation_p.A245V|HHAT_ENST00000545154.1_Missense_Mutation_p.A309V|HHAT_ENST00000537898.1_Missense_Mutation_p.A243V|HHAT_ENST00000367009.1_5'UTR|HHAT_ENST00000541565.1_Missense_Mutation_p.A171V|HHAT_ENST00000261458.3_Missense_Mutation_p.A308V	p.A308V	NM_001170580.1	NP_001164051.1	Q5VTY9	HHAT_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0136)|all cancers(67;0.161)|KIRC - Kidney renal clear cell carcinoma(1967;0.215)	8	1150	+			308					B7Z4D5|B7Z5I1|B7Z868|B7ZA75|D3DT91|F5H444|Q17RZ7|Q4G0K3|Q5CZ95|Q5TGI2|Q9NVH9|Q9Y3N8	Missense_Mutation	SNP	ENST00000367010.1	37	c.923C>T	CCDS1495.1	.	.	.	.	.	.	.	.	.	.	C	19.64	3.864610	0.71949	.	.	ENSG00000054392	ENST00000413764;ENST00000541565;ENST00000545154;ENST00000537898;ENST00000391905;ENST00000545781;ENST00000261458;ENST00000308852;ENST00000367010;ENST00000426968	T;T;T;T;T;T;T;T;T;T	0.71222	-0.55;-0.55;-0.55;-0.55;-0.55;-0.55;-0.55;-0.55;-0.55;-0.55	5.42	5.42	0.78866	.	0.114839	0.64402	D	0.000013	T	0.81235	0.4780	M	0.69823	2.125	0.37078	D	0.898862	D;P;D;D;D	0.65815	0.991;0.921;0.995;0.97;0.986	P;P;P;P;P	0.60949	0.881;0.547;0.867;0.675;0.742	T	0.81315	-0.0988	10	0.27785	T	0.31	-10.8376	17.987	0.89158	0.0:1.0:0.0:0.0	.	263;309;171;243;308	B7Z2U8;F5H444;B7Z4D5;B7Z5I1;Q5VTY9	.;.;.;.;HHAT_HUMAN	V	308;171;309;243;308;245;308;263;308;180	ENSP00000416845:A308V;ENSP00000444995:A171V;ENSP00000438468:A309V;ENSP00000442625:A243V;ENSP00000375773:A308V;ENSP00000439229:A245V;ENSP00000261458:A308V;ENSP00000308628:A263V;ENSP00000355977:A308V;ENSP00000413399:A180V	ENSP00000261458:A308V	A	+	2	0	HHAT	208704538	1.000000	0.71417	0.996000	0.52242	0.256000	0.26092	2.639000	0.46570	2.533000	0.85409	0.555000	0.69702	GCT		0.577	HHAT-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088662.1	NM_018194		24	121	0	0	0	1	0	24	121					T	210637915	C	T	210637915	3	4	401	1	0	0	0	0	1	0	0	0	7089	797	28	3	1047	3	HHAT	1	210637915	Missense_Mutation	SNP	C	TCGA-VN-A88L-01A-11D-A34U-08	35	210637915	38612706	5	19528			1	42		2	2	36	C		4.40928e-05
RYR2	6262	broad.mit.edu	37	chr1	237923150	237923150	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gccggcctgatgcagtcatgTaggtaaggactcacttcctt	8	11	11	11	1	2	1	2	1	0	0	3	2	3	2	3	3	1	3	3	3	2	4			TCGA-VN-A88L-01A-11D-A34U-08	TCGA-VN-A88L-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ee4cc9c-82a2-4d65-9b90-7263e4dc6164	46d69be0-f87a-48cd-8096-675fec8dea31	g.chr1:237923150T>C	ENST00000366574.2	+	83	11717	c.11400T>C	c.(11398-11400)tgT>tgC	p.C3800C	RYR2_ENST00000542537.1_Silent_p.C3784C|RYR2_ENST00000609119.1_3'UTR|RYR2_ENST00000360064.6_Silent_p.C3806C	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	3800					BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TGCAGTCATGTAGGTAAGGAC	0.433																																						ENST00000366574.2																			0				NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586						c.(11398-11400)tgT>tgC		ryanodine receptor 2 (cardiac)							121	117	118					1																	237923150		1855	4102	5957	SO:0001819	synonymous_variant	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237923150T>C	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"Ion channels / Ryanodine receptors", "EF-hand domain containing"	10484	protein-coding gene	gene with protein product		180902	"arrhythmogenic right ventricular dysplasia 2"	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.11400T>C	1.37:g.237923150T>C						RYR2_ENST00000542537.1_Silent_p.C3784C|RYR2_ENST00000360064.6_Silent_p.C3806C	p.C3800C	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		83	11717	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	3800					Q15411|Q546N8|Q5T3P2	Silent	SNP	ENST00000366574.2	37	c.11400T>C	CCDS55691.1																																																																																				0.433	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		14	29	0	0	0	1	0	14	29					C	237923150	T	C	237923150	2	2	401	1	0	0	0	0	0	0	0	1	13769	1644	57	4		4	RYR2	1	237923150	Silent	SNP	T	TCGA-VN-A88L-01A-11D-A34U-08	27285235	237923150	11327471	6	19529											
ATP6V1C2	245973	broad.mit.edu	37	chr2	10922433	10922433	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ataagaagtcatccaccaagCgtttaagagaggttctaaac	16	9	8	8	1	2	2	1	0	1	2	3	3	3	2	2	1	2	2	2	1	6	5	rs377277646		TCGA-VN-A88L-01A-11D-A34U-08	TCGA-VN-A88L-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ee4cc9c-82a2-4d65-9b90-7263e4dc6164	46d69be0-f87a-48cd-8096-675fec8dea31	g.chr2:10922433C>T	ENST00000272238.4	+	13	1235	c.1126C>T	c.(1126-1128)Cgt>Tgt	p.R376C	ATP6V1C2_ENST00000381661.3_Missense_Mutation_p.R330C	NM_001039362.1	NP_001034451.1	Q8NEY4	VATC2_HUMAN	ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C2	376					ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|positive regulation of Wnt signaling pathway (GO:0030177)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|proton-transporting V-type ATPase, V1 domain (GO:0033180)	hydrogen-exporting ATPase activity, phosphorylative mechanism (GO:0008553)|protein dimerization activity (GO:0046983)			endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.15)|OV - Ovarian serous cystadenocarcinoma(76;0.152)		ATCCACCAAGCGTTTAAGAGA	0.453																																					NSCLC(188;1042 2136 10807 16813 47705)	ENST00000381661.3																			0				endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19						c.(988-990)Cgt>Tgt		ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C2		C	CYS/ARG,CYS/ARG	0,4406		0,0,2203	99	93	95		1126,988	5.7	0.9	2		95	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	ATP6V1C2	NM_001039362.1,NM_144583.3	180,180	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging	376/428,330/382	10922433	1,13005	2203	4300	6503	SO:0001583	missense	245973				ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|proton-transporting V-type ATPase, V1 domain		g.chr2:10922433C>T	AY039759	CCDS1674.1, CCDS42653.1	2p25.1	2010-04-21	2006-01-13		ENSG00000143882	ENSG00000143882		"ATPases / V-type"	18264	protein-coding gene	gene with protein product			"ATPase, H+ transporting, lysosomal 42kD, V1 subunit C isoform 2", "ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C isoform 2"			12384298	Standard	XR_426949		Approved	VMA5, ATP6C2	uc002ras.3	Q8NEY4	OTTHUMG00000090459	ENST00000272238.4:c.1126C>T	2.37:g.10922433C>T	ENSP00000272238:p.Arg376Cys					ATP6V1C2_ENST00000272238.4_Missense_Mutation_p.R376C	p.R330C	NM_144583.3	NP_653184.2	Q8NEY4	VATC2_HUMAN		Epithelial(75;0.15)|OV - Ovarian serous cystadenocarcinoma(76;0.152)	12	1097	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)		376					Q96EL8	Missense_Mutation	SNP	ENST00000272238.4	37	c.988C>T	CCDS42653.1	.	.	.	.	.	.	.	.	.	.	C	18.97	3.736536	0.69304	0.0	1.16E-4	ENSG00000143882	ENST00000272238;ENST00000381661	T;T	0.47177	0.85;0.85	5.73	5.73	0.89815	.	0.165685	0.47455	D	0.000227	T	0.69070	0.3070	M	0.81802	2.56	0.58432	D	0.999997	D;D	0.89917	1.0;1.0	D;D	0.74023	0.969;0.982	T	0.72707	-0.4212	10	0.87932	D	0	-13.4856	13.3776	0.60747	0.2751:0.7249:0.0:0.0	.	330;376	Q8NEY4-2;Q8NEY4	.;VATC2_HUMAN	C	376;330	ENSP00000272238:R376C;ENSP00000371077:R330C	ENSP00000272238:R376C	R	+	1	0	ATP6V1C2	10839884	0.999000	0.42202	0.937000	0.37676	0.690000	0.40134	3.110000	0.50352	2.698000	0.92095	0.655000	0.94253	CGT		0.453	ATP6V1C2-002	KNOWN	not_organism_supported|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000323555.1	NM_144583		15	60	0	0	0	1	0	15	60					T	10922433	C	T	10922433	3	4	401	1	0	0	0	0	1	0	0	0	1181	768	27	1	1172	1	ATP6V1C2	2	10922433	Missense_Mutation	SNP	C	TCGA-VN-A88L-01A-11D-A34U-08		10922433	232276940	7	19530											
ANK2	287	broad.mit.edu	37	chr4	114274943	114274943	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaggtttacaagctagtgcAgagaaagctgaacttaaaaa	18	8	10	5	0	0	2	0	1	0	1	0	4	0	2	0	1	5	4	0	1	9	4			TCGA-VN-A88L-01A-11D-A34U-08	TCGA-VN-A88L-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ee4cc9c-82a2-4d65-9b90-7263e4dc6164	46d69be0-f87a-48cd-8096-675fec8dea31	g.chr4:114274943A>G	ENST00000357077.4	+	38	5222	c.5169A>G	c.(5167-5169)gcA>gcG	p.A1723A	ANK2_ENST00000509550.1_Intron|ANK2_ENST00000506722.1_Intron|ANK2_ENST00000510275.2_Intron|ANK2_ENST00000394537.3_Intron|ANK2_ENST00000264366.6_Silent_p.A1690A	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	1723					atrial cardiac muscle cell action potential (GO:0086014)|atrial cardiac muscle cell to AV node cell communication (GO:0086066)|atrial septum development (GO:0003283)|axon guidance (GO:0007411)|cardiac muscle contraction (GO:0060048)|cellular calcium ion homeostasis (GO:0006874)|cellular protein localization (GO:0034613)|membrane depolarization during SA node cell action potential (GO:0086046)|paranodal junction assembly (GO:0030913)|positive regulation of calcium ion transmembrane transporter activity (GO:1901021)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cation channel activity (GO:2001259)|positive regulation of gene expression (GO:0010628)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein localization to cell surface (GO:0034394)|protein localization to endoplasmic reticulum (GO:0070972)|protein localization to M-band (GO:0036309)|protein localization to organelle (GO:0033365)|protein localization to plasma membrane (GO:0072659)|protein localization to T-tubule (GO:0036371)|protein stabilization (GO:0050821)|protein targeting to plasma membrane (GO:0072661)|regulation of calcium ion transmembrane transporter activity (GO:1901019)|regulation of calcium ion transport (GO:0051924)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to methylmercury (GO:0051597)|SA node cell action potential (GO:0086015)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|T-tubule organization (GO:0033292)|ventricular cardiac muscle cell action potential (GO:0086005)	A band (GO:0031672)|basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intracellular (GO:0005622)|M band (GO:0031430)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|potassium channel regulator activity (GO:0015459)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		AAGCTAGTGCAGAGAAAGCTG	0.423																																						ENST00000357077.4																			0				NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248						c.(5167-5169)gcA>gcG		ankyrin 2, neuronal							180	189	186					4																	114274943		2203	4300	6503	SO:0001819	synonymous_variant	287				axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding	g.chr4:114274943A>G	M37123	CCDS3702.1, CCDS43261.1, CCDS54796.1	4q25-q26	2014-09-17	2003-03-12		ENSG00000145362	ENSG00000145362		"Ankyrin repeat domain containing"	493	protein-coding gene	gene with protein product		106410	"long (electrocardiographic) QT syndrome 4"	LQT4		7485162, 12571597	Standard	NM_001148		Approved		uc003ibe.4	Q01484	OTTHUMG00000132912	ENST00000357077.4:c.5169A>G	4.37:g.114274943A>G						ANK2_ENST00000264366.6_Silent_p.A1690A|ANK2_ENST00000506722.1_Intron|ANK2_ENST00000509550.1_Intron|ANK2_ENST00000394537.3_Intron|ANK2_ENST00000510275.2_Intron	p.A1723A	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)	38	5222	+		Ovarian(17;0.0448)|Hepatocellular(203;0.218)	1690					Q01485|Q08AC7|Q08AC8|Q7Z3L5	Silent	SNP	ENST00000357077.4	37	c.5169A>G	CCDS3702.1																																																																																				0.423	ANK2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256422.2	NM_001148		13	209	0	0	0	1	0	13	209					G	114274943	A	G	114274943	2	3	401	1	0	0	0	0	0	0	0	1	621	175	7	4		4	ANK2	4	114274943	Silent	SNP	A	TCGA-VN-A88L-01A-11D-A34U-08		114274943	76879333	8	19531											
HHIP	64399	broad.mit.edu	37	chr4	145580946	145580946	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ctgaaggagaaattttcaagGagccttatttggacattcac	13	12	9	7	0	2	2	2	1	0	1	2	5	2	4	1	3	1	0	1	3	4	5			TCGA-VN-A88L-01A-11D-A34U-08	TCGA-VN-A88L-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ee4cc9c-82a2-4d65-9b90-7263e4dc6164	46d69be0-f87a-48cd-8096-675fec8dea31	g.chr4:145580946G>A	ENST00000296575.3	+	4	1442	c.787G>A	c.(787-789)Gag>Aag	p.E263K	HHIP_ENST00000511314.1_3'UTR|HHIP_ENST00000434550.2_Missense_Mutation_p.E263K|HHIP-AS1_ENST00000512359.1_RNA	NM_022475.2	NP_071920.1	Q96QV1	HHIP_HUMAN	hedgehog interacting protein	263					carbohydrate metabolic process (GO:0005975)|dorsal/ventral pattern formation (GO:0009953)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|negative regulation of signal transduction (GO:0009968)|negative regulation of smoothened signaling pathway (GO:0045879)|neuroblast proliferation (GO:0007405)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|skeletal system morphogenesis (GO:0048705)|smoothened signaling pathway (GO:0007224)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	hedgehog family protein binding (GO:0097108)|oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor (GO:0016901)|quinone binding (GO:0048038)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	33	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0185)		AATTTTCAAGGAGCCTTATTT	0.373																																						ENST00000296575.3																			0				central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	33						c.(787-789)Gag>Aag		hedgehog interacting protein							77	86	83					4																	145580946		2203	4300	6503	SO:0001583	missense	64399					cytoplasm|extracellular region	catalytic activity|protein binding|zinc ion binding	g.chr4:145580946G>A	AK024645	CCDS3762.1	4q31.21-q31.3	2008-08-29	2001-11-29		ENSG00000164161	ENSG00000164161			14866	protein-coding gene	gene with protein product		606178	"hedgehog-interacting protein"			11435703, 11731473	Standard	NM_022475		Approved	HIP, FLJ20992	uc003ijs.2	Q96QV1	OTTHUMG00000161428	ENST00000296575.3:c.787G>A	4.37:g.145580946G>A	ENSP00000296575:p.Glu263Lys					HHIP_ENST00000434550.2_Missense_Mutation_p.E263K|HHIP-AS1_ENST00000512359.1_RNA|HHIP_ENST00000511314.1_3'UTR	p.E263K	NM_022475.2	NP_071920.1	Q96QV1	HHIP_HUMAN		GBM - Glioblastoma multiforme(119;0.0185)	4	1442	+	all_hematologic(180;0.151)		263					Q6PK09|Q8NCI7|Q9BXK3|Q9H1J4|Q9H7E7	Missense_Mutation	SNP	ENST00000296575.3	37	c.787G>A	CCDS3762.1	.	.	.	.	.	.	.	.	.	.	G	26.2	4.714783	0.89112	.	.	ENSG00000164161	ENST00000296575;ENST00000434550	T;T	0.44482	2.56;0.92	5.78	5.78	0.91487	Soluble quinoprotein glucose/sorbosone dehydrogenase (1);Six-bladed beta-propeller, TolB-like (1);	0.000000	0.85682	D	0.000000	T	0.55986	0.1955	L	0.37750	1.13	0.80722	D	1	D;P	0.67145	0.996;0.903	D;P	0.79784	0.993;0.573	T	0.42032	-0.9475	10	0.23891	T	0.37	-26.6666	20.0009	0.97408	0.0:0.0:1.0:0.0	.	263;263	Q96QV1;Q96QV1-2	HHIP_HUMAN;.	K	263	ENSP00000296575:E263K;ENSP00000408587:E263K	ENSP00000296575:E263K	E	+	1	0	HHIP	145800396	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.736000	0.93811	0.555000	0.69702	GAG		0.373	HHIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364887.2			6	112	0	0	0	1	0	6	112					A	145580946	G	A	145580946	3	1	401	1	0	0	0	0	1	0	0	0	7092	1175	41	3	801	3	HHIP	4	145580946	Missense_Mutation	SNP	G	TCGA-VN-A88L-01A-11D-A34U-08	31306003	145580946	45573330	9	19532											
GRM1	2911	broad.mit.edu	37	chr6	146350830	146350830	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtccatcaccagcctccggcCgagaaagtgcccgagaggaa	11	4	12	14	3	1	2	1	0	0	2	3	5	3	3	6	2	2	0	6	2	2	0			TCGA-VN-A88L-01A-11D-A34U-08	TCGA-VN-A88L-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ee4cc9c-82a2-4d65-9b90-7263e4dc6164	46d69be0-f87a-48cd-8096-675fec8dea31	g.chr6:146350830C>T	ENST00000282753.1	+	1	412	c.177C>T	c.(175-177)gcC>gcT	p.A59A	GRM1_ENST00000507907.1_Silent_p.A59A|GRM1_ENST00000392299.2_Silent_p.A59A|GRM1_ENST00000361719.2_Silent_p.A59A|GRM1_ENST00000492807.2_Silent_p.A59A|GRM1_ENST00000355289.4_Silent_p.A59A			Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	59					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|cell death (GO:0008219)|cellular response to electrical stimulus (GO:0071257)|dimeric G-protein coupled receptor signaling pathway (GO:0038042)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|G-protein coupled receptor signaling pathway (GO:0007186)|locomotory behavior (GO:0007626)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of pain (GO:0019233)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|G-protein coupled receptor dimeric complex (GO:0038037)|G-protein coupled receptor homodimeric complex (GO:0038038)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)			NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)		AGCCTCCGGCCGAGAAAGTGC	0.587																																						ENST00000392299.2																			0				NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126						c.(175-177)gcC>gcT		glutamate receptor, metabotropic 1	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)						67	65	66					6																	146350830		2203	4300	6503	SO:0001819	synonymous_variant	2911				synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	g.chr6:146350830C>T	U31215	CCDS5209.1, CCDS47497.1, CCDS64548.1	6q24	2014-06-12			ENSG00000152822	ENSG00000152822		"GPCR / Class C : Glutamate receptors, metabotropic", "Glutamate receptors"	4593	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 85"	604473				9076744, 9376535	Standard	NM_001278064		Approved	GPRC1A, mGlu1, MGLUR1, PPP1R85	uc010khw.2	Q13255	OTTHUMG00000015752	ENST00000282753.1:c.177C>T	6.37:g.146350830C>T						GRM1_ENST00000361719.2_Silent_p.A59A|GRM1_ENST00000492807.2_Silent_p.A59A|GRM1_ENST00000507907.1_Silent_p.A59A|GRM1_ENST00000282753.1_Silent_p.A59A|GRM1_ENST00000355289.4_Silent_p.A59A	p.A59A			Q13255	GRM1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	2	647	+		Ovarian(120;0.0387)	59					B9EG79|F8W805|Q13256|Q14757|Q14758|Q5VTF7|Q5VTF8|Q9NU10|Q9UGS9|Q9UGT0	Silent	SNP	ENST00000282753.1	37	c.177C>T	CCDS5209.1																																																																																				0.587	GRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042574.1	NM_000838		5	65	0	0	0	1	0	5	65					T	146350830	C	T	146350830	2	4	401	1	0	0	0	0	0	0	0	1	6796	639	23	2		2	GRM1	6	146350830	Silent	SNP	C	TCGA-VN-A88L-01A-11D-A34U-08		146350830	24764237	10	19533											
RUNDC3B	154661	broad.mit.edu	37	chr7	87369182	87369182	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcatgcttctaggactcaaTgctattgatttcaggtactt	9	15	9	8	0	3	1	2	1	1	0	3	2	3	2	0	3	3	4	0	3	4	7			TCGA-VN-A88L-01A-11D-A34U-08	TCGA-VN-A88L-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ee4cc9c-82a2-4d65-9b90-7263e4dc6164	46d69be0-f87a-48cd-8096-675fec8dea31	g.chr7:87369182T>C	ENST00000338056.3	+	6	996	c.585T>C	c.(583-585)aaT>aaC	p.N195N	RUNDC3B_ENST00000493037.1_Silent_p.N178N|RUNDC3B_ENST00000394654.3_Silent_p.N178N|RUNDC3B_ENST00000496000.1_3'UTR	NM_001134405.1|NM_138290.2	NP_001127877.1|NP_612147.1	Q96NL0	RUN3B_HUMAN	RUN domain containing 3B	195	RUN. {ECO:0000255|PROSITE- ProRule:PRU00178}.									breast(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(2)	26	Esophageal squamous(14;0.00164)					TAGGACTCAATGCTATTGATT	0.308																																						ENST00000338056.3																			0				breast(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(2)	26						c.(583-585)aaT>aaC		RUN domain containing 3B							65	64	64					7																	87369182		2203	4299	6502	SO:0001819	synonymous_variant	154661							g.chr7:87369182T>C		CCDS5609.1, CCDS47635.1, CCDS47636.1	7q21.12	2009-01-14			ENSG00000105784	ENSG00000105784			30286	protein-coding gene	gene with protein product						12645870	Standard	NM_138290		Approved	RPIP9, RPIB9	uc003ujb.3	Q96NL0	OTTHUMG00000131035	ENST00000338056.3:c.585T>C	7.37:g.87369182T>C						RUNDC3B_ENST00000493037.1_Silent_p.N178N|RUNDC3B_ENST00000496000.1_3'UTR|RUNDC3B_ENST00000394654.3_Silent_p.N178N	p.N195N	NM_001134405.1|NM_138290.2	NP_001127877.1|NP_612147.1	Q96NL0	RUN3B_HUMAN			6	996	+	Esophageal squamous(14;0.00164)		195			RUN.		B4DFD0|E9PBR4|Q8IWW5|Q8NB55|Q8TBG7	Silent	SNP	ENST00000338056.3	37	c.585T>C	CCDS5609.1																																																																																				0.308	RUNDC3B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000253679.1	NM_138290		4	43	0	0	0	1	0	4	43					C	87369182	T	C	87369182	2	2	401	1	0	0	0	0	0	0	0	1	13745	1461	51	4		4	RUNDC3B	7	87369182	Silent	SNP	T	TCGA-VN-A88L-01A-11D-A34U-08		87369182	71769481	11	19534											
MLL3	58508	broad.mit.edu	37	chr7	151962178	151962178	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ccaacctgcacgttttaatgGagtaaccgctatatccaggc	11	10	8	12	2	0	0	0	0	0	0	1	1	1	1	4	2	3	4	4	2	5	5			TCGA-VN-A88L-01A-11D-A34U-08	TCGA-VN-A88L-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ee4cc9c-82a2-4d65-9b90-7263e4dc6164	46d69be0-f87a-48cd-8096-675fec8dea31	g.chr7:151962178G>T	ENST00000262189.6	-	8	1347	c.1129C>A	c.(1129-1131)Cca>Aca	p.P377T	KMT2C_ENST00000355193.2_Missense_Mutation_p.P377T	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	377					histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										CGTTTTAATGGAGTAACCGCT	0.453																																						ENST00000355193.2																			0											c.(1129-1131)Cca>Aca		lysine (K)-specific methyltransferase 2C							465	416	433					7																	151962178		2203	4300	6503	SO:0001583	missense	58508							g.chr7:151962178G>T	AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	13726	protein-coding gene	gene with protein product		606833	"myeloid/lymphoid or mixed-lineage leukemia 3"	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.1129C>A	7.37:g.151962178G>T	ENSP00000262189:p.Pro377Thr					KMT2C_ENST00000262189.6_Missense_Mutation_p.P377T	p.P377T							8	1347	-								Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Missense_Mutation	SNP	ENST00000262189.6	37	c.1129C>A	CCDS5931.1	.	.	.	.	.	.	.	.	.	.	G	8.883	0.952119	0.18431	.	.	ENSG00000055609	ENST00000262189;ENST00000355193	D;D	0.98822	-5.16;-5.16	4.65	3.76	0.43208	Zinc finger, PHD-finger (1);Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);Zinc finger, PHD-type (1);Protein kinase C-like, phorbol ester/diacylglycerol binding (1);Zinc finger, FYVE/PHD-type (1);	0.000000	0.41500	U	0.000864	D	0.96836	0.8967	L	0.39467	1.215	0.80722	D	1	P	0.46395	0.877	B	0.43360	0.417	D	0.95685	0.8735	10	0.45353	T	0.12	.	14.2796	0.66202	0.0:0.2835:0.7165:0.0	.	377	Q8NEZ4	MLL3_HUMAN	T	377	ENSP00000262189:P377T;ENSP00000347325:P377T	ENSP00000262189:P377T	P	-	1	0	MLL3	151593111	1.000000	0.71417	1.000000	0.80357	0.058000	0.15608	5.473000	0.66774	1.047000	0.40274	-0.310000	0.09108	CCA		0.453	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3			28	528	1	0	6.02846e-25	1	6.72944e-25	28	528					T	151962178	G	T	151962178	3	4	401	1	0	0	0	0	1	0	0	0	9622	1174	41	5	13814	5	MLL3	7	151962178	Missense_Mutation	SNP	G	TCGA-VN-A88L-01A-11D-A34U-08	64592996	151962178	7176485	12	19535											
RP1L1	94137	broad.mit.edu	37	chr8	10470174	10470174	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggctggcactgtccaccccGtcctccggggtcctggggca	3	7	15	16	2	0	0	0	0	0	0	4	0	4	0	6	6	0	3	6	6	0	0	rs138367868		TCGA-VN-A88L-01A-11D-A34U-08	TCGA-VN-A88L-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ee4cc9c-82a2-4d65-9b90-7263e4dc6164	46d69be0-f87a-48cd-8096-675fec8dea31	g.chr8:10470174G>A	ENST00000382483.3	-	4	1657	c.1434C>T	c.(1432-1434)gaC>gaT	p.D478D		NM_178857.5	NP_849188.4	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	478					cell projection organization (GO:0030030)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|visual perception (GO:0007601)	axoneme (GO:0005930)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|photoreceptor connecting cilium (GO:0032391)|photoreceptor outer segment (GO:0001750)				breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		TGTCCACCCCGTCCTCCGGGG	0.697													G|||	1	0.000199681	0	0	5008	,	,		15042	0		0.001	False		,,,				2504	0					ENST00000382483.3																			0				breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148						c.(1432-1434)gaC>gaT		retinitis pigmentosa 1-like 1		G		1,3873		0,1,1936	24	29	28		1434	-2.9	0	8	dbSNP_134	28	7,8213		0,7,4103	no	coding-synonymous	RP1L1	NM_178857.5		0,8,6039	AA,AG,GG		0.0852,0.0258,0.0661		478/2401	10470174	8,12086	1937	4110	6047	SO:0001819	synonymous_variant	94137				intracellular signal transduction			g.chr8:10470174G>A	AY168346	CCDS43708.1	8p23.1	2011-12-06			ENSG00000183638	ENSG00000183638			15946	protein-coding gene	gene with protein product		608581				12634863	Standard	NM_178857		Approved	DCDC4B	uc003wtc.3	Q8IWN7	OTTHUMG00000163806	ENST00000382483.3:c.1434C>T	8.37:g.10470174G>A							p.D478D	NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN		COAD - Colon adenocarcinoma(149;0.0811)	4	1657	-			478					Q86SQ1|Q8IWN8|Q8IWN9|Q8IWP0|Q8IWP1|Q8IWP2	Silent	SNP	ENST00000382483.3	37	c.1434C>T	CCDS43708.1																																																																																				0.697	RP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375673.1			3	40	0	0	0	1	0	3	40					A	10470174	G	A	10470174	2	1	401	1	0	0	0	0	0	0	0	1	13533	1136	40	1		1	RP1L1	8	10470174	Silent	SNP	G	TCGA-VN-A88L-01A-11D-A34U-08		10470174	135893848	13	19536											
MTFR1	9650	broad.mit.edu	37	chr8	66619384	66619384	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaacgaagagagaaaagagcCaatgctggaaagactttggt	17	6	13	5	1	0	4	0	0	0	4	0	8	0	5	1	2	3	1	1	2	6	1			TCGA-VN-A88L-01A-11D-A34U-08	TCGA-VN-A88L-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ee4cc9c-82a2-4d65-9b90-7263e4dc6164	46d69be0-f87a-48cd-8096-675fec8dea31	g.chr8:66619384C>A	ENST00000262146.4	+	6	783	c.657C>A	c.(655-657)gcC>gcA	p.A219A	MTFR1_ENST00000458689.2_Silent_p.A186A|MTFR1_ENST00000517944.1_3'UTR	NM_014637.3	NP_055452.3	Q15390	MTFR1_HUMAN	mitochondrial fission regulator 1	219	Necessary and sufficient to promote mitochondrial fission. {ECO:0000250}.				aerobic respiration (GO:0009060)|mitochondrial fission (GO:0000266)|mitochondrion organization (GO:0007005)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)				cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(1)|pancreas(1)|urinary_tract(1)	11			Epithelial(68;0.0526)|BRCA - Breast invasive adenocarcinoma(89;0.156)|all cancers(69;0.171)|OV - Ovarian serous cystadenocarcinoma(28;0.194)			AGAAAAGAGCCAATGCTGGAA	0.473																																						ENST00000262146.4																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(1)|pancreas(1)|urinary_tract(1)	11						c.(655-657)gcC>gcA		mitochondrial fission regulator 1							79	79	79					8																	66619384		2203	4300	6503	SO:0001819	synonymous_variant	9650					mitochondrion|plasma membrane		g.chr8:66619384C>A		CCDS6182.1, CCDS55240.1	8q13.1	2012-11-30							29510	protein-coding gene	gene with protein product	"likely ortholog of chicken chondrocyte protein with a poly proline region"					7584026, 7584028, 15389597	Standard	NM_014637		Approved	CHPPR, KIAA0009, FAM54A2	uc003xvn.2	Q15390		ENST00000262146.4:c.657C>A	8.37:g.66619384C>A						MTFR1_ENST00000517944.1_3'UTR|MTFR1_ENST00000458689.2_Silent_p.A186A	p.A219A	NM_014637.3	NP_055452.3	Q15390	MTFR1_HUMAN	Epithelial(68;0.0526)|BRCA - Breast invasive adenocarcinoma(89;0.156)|all cancers(69;0.171)|OV - Ovarian serous cystadenocarcinoma(28;0.194)		6	783	+			219					E7EP84|Q6IB94|Q7Z669|Q86XH5|Q8IVD7	Silent	SNP	ENST00000262146.4	37	c.657C>A	CCDS6182.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	2.550|2.550	-0.304180|-0.304180	0.05495|0.05495	.|.	.|.	ENSG00000066855|ENSG00000066855	ENST00000518800|ENST00000527155	.|.	.|.	.|.	5.49|5.49	2.58|2.58	0.30949|0.30949	.|.	.|.	.|.	.|.	.|.	T|T	0.25531|0.25531	0.0621|0.0621	.|.	.|.	.|.	0.09310|0.09310	N|N	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.16100|0.16100	-1.0414|-1.0414	4|4	.|.	.|.	.|.	.|.	4.6944|4.6944	0.12797|0.12797	0.1121:0.5843:0.1534:0.1502|0.1121:0.5843:0.1534:0.1502	.|.	.|.	.|.	.|.	Q|K	177|33	.|.	.|.	P|Q	+|+	2|1	0|0	MTFR1|MTFR1	66781938|66781938	0.000000|0.000000	0.05858|0.05858	0.004000|0.004000	0.12327|0.12327	0.451000|0.451000	0.32288|0.32288	-0.633000|-0.633000	0.05483|0.05483	1.315000|1.315000	0.45114|0.45114	0.650000|0.650000	0.86243|0.86243	CCA|CAA		0.473	MTFR1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378894.1	NM_014637		4	73	1	0	0.150653	1	0.153859	4	73					A	66619384	C	A	66619384	2	1	401	1	0	0	0	0	0	0	0	1	9925	581	21	5		5	MTFR1	8	66619384	Silent	SNP	C	TCGA-VN-A88L-01A-11D-A34U-08	56149210	66619384	79744638	14	19537											
ZFPM2	23414	broad.mit.edu	37	chr8	106456601	106456601	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agttgagacagacgactgggAtggaccaggtaggggagaat	13	6	17	5	1	0	3	0	1	0	3	0	8	0	5	1	5	0	2	1	5	2	2			TCGA-VN-A88L-01A-11D-A34U-08	TCGA-VN-A88L-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ee4cc9c-82a2-4d65-9b90-7263e4dc6164	46d69be0-f87a-48cd-8096-675fec8dea31	g.chr8:106456601A>C	ENST00000407775.2	+	3	543	c.293A>C	c.(292-294)gAt>gCt	p.D98A	ZFPM2_ENST00000520492.1_5'UTR	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	zinc finger protein, FOG family member 2	98					blood coagulation (GO:0007596)|embryonic organ development (GO:0048568)|gonadal mesoderm development (GO:0007506)|in utero embryonic development (GO:0001701)|lung development (GO:0030324)|negative regulation of cell death (GO:0060548)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of female gonad development (GO:2000195)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract septum morphogenesis (GO:0003148)|positive regulation of male gonad development (GO:2000020)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|right ventricular cardiac muscle tissue morphogenesis (GO:0003221)|vasculogenesis (GO:0001570)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|nucleic acid binding transcription factor activity (GO:0001071)|RNA polymerase II transcription coactivator activity (GO:0001105)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			GACGACTGGGATGGACCAGGT	0.423																																						ENST00000407775.2																			0				NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99						c.(292-294)gAt>gCt		zinc finger protein, FOG family member 2							65	68	67					8																	106456601		1887	4116	6003	SO:0001583	missense	23414				blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding	g.chr8:106456601A>C	AF119334	CCDS47908.1	8q23	2013-01-10	2012-11-27		ENSG00000169946	ENSG00000169946		"Zinc fingers, C2H2-type", "Zinc fingers, C2HC-type containing"	16700	protein-coding gene	gene with protein product		603693	"zinc finger protein, multitype 2"			9927675, 10438528	Standard	NM_012082		Approved	FOG2, hFOG-2, ZNF89B, ZC2HC11B	uc003ymd.3	Q8WW38	OTTHUMG00000164818	ENST00000407775.2:c.293A>C	8.37:g.106456601A>C	ENSP00000384179:p.Asp98Ala					ZFPM2_ENST00000520492.1_5'UTR	p.D98A	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)		3	543	+			98					Q32MA6|Q9NPL7|Q9NPS4|Q9UNI5	Missense_Mutation	SNP	ENST00000407775.2	37	c.293A>C	CCDS47908.1	.	.	.	.	.	.	.	.	.	.	A	22.1	4.242506	0.79912	.	.	ENSG00000169946	ENST00000407775	T	0.20738	2.05	5.87	4.7	0.59300	.	0.144796	0.44285	D	0.000466	T	0.18130	0.0435	L	0.43152	1.355	0.80722	D	1	P	0.37525	0.598	B	0.32211	0.142	T	0.02121	-1.1210	10	0.72032	D	0.01	.	12.4663	0.55759	0.8744:0.0:0.0:0.1256	.	98	Q8WW38	FOG2_HUMAN	A	98	ENSP00000384179:D98A	ENSP00000384179:D98A	D	+	2	0	ZFPM2	106525777	1.000000	0.71417	1.000000	0.80357	0.925000	0.55904	8.649000	0.91067	1.130000	0.42092	0.533000	0.62120	GAT		0.423	ZFPM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380614.1			3	12	0	0	0	1	0	3	12					C	106456601	A	C	106456601	3	2	401	1	0	0	0	0	1	0	0	0	17655	333	12	5	303	5	ZFPM2	8	106456601	Missense_Mutation	SNP	A	TCGA-VN-A88L-01A-11D-A34U-08	39837217	106456601	39907421	15	19538											
DCAF10	79269	broad.mit.edu	37	chr9	37801316	37801316	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tttcgcaccatgactagcctCtacggttccatccaccccgc	7	10	6	18	3	1	1	0	1	1	0	4	1	3	1	6	1	2	2	6	1	2	4			TCGA-VN-A88L-01A-11D-A34U-08	TCGA-VN-A88L-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ee4cc9c-82a2-4d65-9b90-7263e4dc6164	46d69be0-f87a-48cd-8096-675fec8dea31	g.chr9:37801316C>G	ENST00000377724.3	+	1	818	c.453C>G	c.(451-453)ctC>ctG	p.L151L	RP11-613M10.9_ENST00000540557.1_Intron|DCAF10_ENST00000242323.7_Silent_p.L151L	NM_024345.3	NP_077321.3	Q5QP82	DCA10_HUMAN	DDB1 and CUL4 associated factor 10	151					protein ubiquitination (GO:0016567)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|skin(1)	12						TGACTAGCCTCTACGGTTCCA	0.682																																						ENST00000242323.7																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|skin(1)	12						c.(451-453)ctC>ctG		DDB1 and CUL4 associated factor 10							32	17	22					9																	37801316		2097	4114	6211	SO:0001819	synonymous_variant	79269					CUL4 RING ubiquitin ligase complex		g.chr9:37801316C>G	BC003520	CCDS6613.2, CCDS75835.1	9p13.2	2013-01-09	2009-07-17	2009-07-17	ENSG00000122741	ENSG00000122741		"WD repeat domain containing", "DDB1 and CUL4 associated factors"	23686	protein-coding gene	gene with protein product			"WD repeat domain 32"	WDR32			Standard	NM_001286810		Approved	MGC10765, FLJ23201	uc004aao.3	Q5QP82	OTTHUMG00000019934	ENST00000377724.3:c.453C>G	9.37:g.37801316C>G						RP11-613M10.9_ENST00000540557.1_Intron|DCAF10_ENST00000377724.3_Silent_p.L151L	p.L151L			Q5QP82	DCA10_HUMAN			1	527	+			151					A4VCJ5|Q32NE2|Q8N2Q5|Q96ET5|Q9BTQ5|Q9H5P6	Silent	SNP	ENST00000377724.3	37	c.453C>G	CCDS6613.2																																																																																				0.682	DCAF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052485.2	NM_024345		4	9	0	0	0	1	0	4	9					G	37801316	C	G	37801316	2	3	401	1	0	0	0	0	0	0	0	1	4261	900	32	5		5	DCAF10	9	37801316	Silent	SNP	C	TCGA-VN-A88L-01A-11D-A34U-08		37801316	103412115	16	19539											
OR2D2	120776	broad.mit.edu	37	chr11	6913340	6913340	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aggtcatgatgttagggtaaCgcagaggattgcagattgca	12	10	14	5	1	1	3	1	1	0	2	1	4	1	4	0	3	3	5	0	3	2	4	rs143950338		TCGA-VN-A88L-01A-11D-A34U-08	TCGA-VN-A88L-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ee4cc9c-82a2-4d65-9b90-7263e4dc6164	46d69be0-f87a-48cd-8096-675fec8dea31	g.chr11:6913340C>T	ENST00000299459.2	-	1	490	c.392G>A	c.(391-393)cGt>cAt	p.R131H		NM_003700.1	NP_003691.1	Q9H210	OR2D2_HUMAN	olfactory receptor, family 2, subfamily D, member 2	131					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R131H(1)		breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(3)|lung(9)|ovary(1)|skin(2)	18		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		GTTAGGGTAACGCAGAGGATT	0.498																																						ENST00000299459.2																			1	Substitution - Missense(1)	p.R131H(1)	lung(1)	breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(3)|lung(9)|ovary(1)|skin(2)	18						c.(391-393)cGt>cAt		olfactory receptor, family 2, subfamily D, member 2			HIS/ARG	0,4402		0,0,2201	140	109	119		392	2.8	0.2	11	dbSNP_134	119	2,8590	2.2+/-6.3	0,2,4294	no	missense	OR2D2	NM_003700.1	29	0,2,6495	TT,TC,CC		0.0233,0.0,0.0154	benign	131/309	6913340	2,12992	2201	4296	6497	SO:0001583	missense	120776				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:6913340C>T	AB065824	CCDS31416.1	11p15.4	2012-08-09			ENSG00000166368	ENSG00000166368		"GPCR / Class A : Olfactory receptors"	8244	protein-coding gene	gene with protein product		608494		OR2D1		9787077	Standard	NM_003700		Approved	OR11-610, hg27	uc010rau.2	Q9H210	OTTHUMG00000165741	ENST00000299459.2:c.392G>A	11.37:g.6913340C>T	ENSP00000299459:p.Arg131His						p.R131H	NM_003700.1	NP_003691.1	Q9H210	OR2D2_HUMAN		Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)	1	490	-		Medulloblastoma(188;0.0523)|all_neural(188;0.236)	131					B9EIL5|O95224|Q6IF28|Q8NGH4|Q96R52	Missense_Mutation	SNP	ENST00000299459.2	37	c.392G>A	CCDS31416.1	.	.	.	.	.	.	.	.	.	.	c	1.208	-0.630565	0.03584	0.0	2.33E-4	ENSG00000166368	ENST00000299459	T	0.00669	5.9	5.23	2.81	0.32909	GPCR, rhodopsin-like superfamily (1);	0.000000	0.50627	N	0.000110	T	0.00468	0.0015	N	0.13003	0.285	0.22562	N	0.998984	B	0.02656	0.0	B	0.01281	0.0	T	0.48502	-0.9030	10	0.02654	T	1	-11.6662	3.3029	0.06989	0.1362:0.0769:0.142:0.6449	.	131	Q9H210	OR2D2_HUMAN	H	131	ENSP00000299459:R131H	ENSP00000299459:R131H	R	-	2	0	OR2D2	6869916	0.000000	0.05858	0.184000	0.23157	0.850000	0.48378	-0.381000	0.07417	0.146000	0.19002	-0.288000	0.09946	CGT		0.498	OR2D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385986.1	NM_003700		11	93	0	0	0	1	0	11	93					T	6913340	C	T	6913340	3	4	401	1	0	0	0	0	1	0	0	0	10994	536	19	1	537	1	OR2D2	11	6913340	Missense_Mutation	SNP	C	TCGA-VN-A88L-01A-11D-A34U-08		6913340	128093176	17	19540											
MICAL2	9645	broad.mit.edu	37	chr11	12265584	12265584	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	actcatcctccatctcctccCtctcgccttccgtctcctga	4	13	3	21	2	4	1	1	1	3	0	11	1	8	1	7	0	0	0	7	0	0	1			TCGA-VN-A88L-01A-11D-A34U-08	TCGA-VN-A88L-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ee4cc9c-82a2-4d65-9b90-7263e4dc6164	46d69be0-f87a-48cd-8096-675fec8dea31	g.chr11:12265584C>G	ENST00000256194.4	+	21	2997	c.2709C>G	c.(2707-2709)ccC>ccG	p.P903P	MICAL2_ENST00000379612.3_Intron|MICAL2_ENST00000342902.5_Silent_p.P903P|MICAL2_ENST00000527546.1_Intron|MICAL2_ENST00000537344.1_Intron	NM_001282663.1|NM_014632.2	NP_001269592.1|NP_055447.1	O94851	MICA2_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 2	903					actin filament depolymerization (GO:0030042)|cytoskeleton organization (GO:0007010)|heart development (GO:0007507)|heart looping (GO:0001947)|oxidation-reduction process (GO:0055114)|positive regulation of transcription via serum response element binding (GO:0010735)|sulfur oxidation (GO:0019417)	nucleus (GO:0005634)	actin binding (GO:0003779)|FAD binding (GO:0071949)|NADPH:sulfur oxidoreductase activity (GO:0043914)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen (GO:0016709)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	47				Epithelial(150;0.00552)		CATCTCCTCCCTCTCGCCTTC	0.463																																						ENST00000256194.4																			0				breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	47						c.(2707-2709)ccC>ccG		microtubule associated monooxygenase, calponin and LIM domain containing 2							415	349	372					11																	12265584		2201	4294	6495	SO:0001819	synonymous_variant	9645					cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding	g.chr11:12265584C>G	AB018293	CCDS7809.1, CCDS60726.1, CCDS60727.1, CCDS60728.1	11p15.3	2014-08-12	2013-03-26		ENSG00000133816	ENSG00000133816			24693	protein-coding gene	gene with protein product		608881				12110185	Standard	XM_005253249		Approved	KIAA0750	uc001mjz.3	O94851	OTTHUMG00000165744	ENST00000256194.4:c.2709C>G	11.37:g.12265584C>G						MICAL2_ENST00000379612.3_Intron|MICAL2_ENST00000527546.1_Intron|MICAL2_ENST00000537344.1_Intron|MICAL2_ENST00000342902.5_Silent_p.P903P	p.P903P	NM_014632.2	NP_055447.1	O94851	MICA2_HUMAN		Epithelial(150;0.00552)	21	2997	+			903					B4DGZ0|B7Z849|D3DQW5|G3XAC8|Q5KTR3|Q5KTR4|Q7Z3A8	Silent	SNP	ENST00000256194.4	37	c.2709C>G	CCDS7809.1																																																																																				0.463	MICAL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385993.1	NM_014632		5	158	0	0	0	1	0	5	158					G	12265584	C	G	12265584	2	3	401	1	0	0	0	0	0	0	0	1	9570	668	24	5		5	MICAL2	11	12265584	Silent	SNP	C	TCGA-VN-A88L-01A-11D-A34U-08	5352244	12265584	122740932	18	19541											
SMTNL1	219537	broad.mit.edu	37	chr11	57310507	57310507	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctgaggaaaaggagagcaCgctggcctctgagaagcaga	13	4	16	8	1	1	4	0	2	1	3	1	7	1	5	1	4	2	4	1	4	3	0			TCGA-VN-A88L-01A-11D-A34U-08	TCGA-VN-A88L-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ee4cc9c-82a2-4d65-9b90-7263e4dc6164	46d69be0-f87a-48cd-8096-675fec8dea31	g.chr11:57310507C>T	ENST00000399154.2	+	1	392	c.392C>T	c.(391-393)aCg>aTg	p.T131M	SMTNL1_ENST00000457912.1_Missense_Mutation_p.T149M|SMTNL1_ENST00000527972.1_Missense_Mutation_p.T131M			A8MU46	SMTL1_HUMAN	smoothelin-like 1	131	Glu-rich.				negative regulation of vasodilation (GO:0045908)|positive regulation of vasoconstriction (GO:0045907)	contractile fiber (GO:0043292)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(2)|large_intestine(1)|lung(4)|ovary(1)	8						AAGGAGAGCACGCTGGCCTCT	0.522																																						ENST00000457912.1																			0				endometrium(2)|large_intestine(1)|lung(4)|ovary(1)	8						c.(445-447)aCg>aTg		smoothelin-like 1							35	37	37					11																	57310507		2014	4176	6190	SO:0001583	missense	219537							g.chr11:57310507C>T	BX116227		11q12.1	2006-02-02				ENSG00000214872			32394	protein-coding gene	gene with protein product	"calponin homology-associated smooth muscle protein"	613664				15327999	Standard	NM_001105565		Approved	CHASM	uc021qjh.1	A8MU46		ENST00000399154.2:c.392C>T	11.37:g.57310507C>T	ENSP00000382108:p.Thr131Met					SMTNL1_ENST00000527972.1_Missense_Mutation_p.T131M|SMTNL1_ENST00000399154.2_Missense_Mutation_p.T131M	p.T149M			E9PPJ3	E9PPJ3_HUMAN			2	446	+			131						Missense_Mutation	SNP	ENST00000399154.2	37	c.446C>T		.	.	.	.	.	.	.	.	.	.	C	7.612	0.674938	0.14841	.	.	ENSG00000214872	ENST00000457912;ENST00000527972;ENST00000399154	T;T;T	0.02763	4.19;4.19;4.17	4.72	-0.904	0.10530	.	1.746860	0.04105	N	0.313545	T	0.02807	0.0084	L	0.27053	0.805	0.09310	N	1	B	0.16396	0.017	B	0.04013	0.001	T	0.46527	-0.9185	10	0.52906	T	0.07	-0.1371	6.5087	0.22210	0.1214:0.5517:0.0:0.3269	.	149	C9J621	.	M	149;131;131	ENSP00000406485:T149M;ENSP00000432651:T131M;ENSP00000382108:T131M	ENSP00000382108:T131M	T	+	2	0	SMTNL1	57067083	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.692000	0.01918	-0.180000	0.10637	-0.797000	0.03246	ACG		0.522	SMTNL1-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		XM_166203		3	5	0	0	0	1	0	3	5					T	57310507	C	T	57310507	3	4	401	1	0	0	0	0	1	0	0	0	14815	536	19	1	452	1	SMTNL1	11	57310507	Missense_Mutation	SNP	C	TCGA-VN-A88L-01A-11D-A34U-08	45044923	57310507	77696009	19	19542											
CATSPER1	117144	broad.mit.edu	37	chr11	65789325	65789325	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acgtagatgcagaagaatatGgagtccaaggccatgaagta	16	7	12	6	1	0	4	0	1	0	3	1	5	1	5	2	2	1	3	2	2	7	3			TCGA-VN-A88L-01A-11D-A34U-08	TCGA-VN-A88L-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ee4cc9c-82a2-4d65-9b90-7263e4dc6164	46d69be0-f87a-48cd-8096-675fec8dea31	g.chr11:65789325G>A	ENST00000312106.5	-	3	1592	c.1455C>T	c.(1453-1455)tcC>tcT	p.S485S		NM_053054.3	NP_444282.3	Q8NEC5	CTSR1_HUMAN	cation channel, sperm associated 1	485					calcium ion import (GO:0070509)|cell differentiation (GO:0030154)|fusion of sperm to egg plasma membrane (GO:0007342)|membrane depolarization during action potential (GO:0086010)|multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|regulation of calcium ion transport (GO:0051924)|regulation of cilium beat frequency involved in ciliary motility (GO:0060296)|single fertilization (GO:0007338)|sperm motility (GO:0030317)|sperm-egg recognition (GO:0035036)|spermatogenesis (GO:0007283)	CatSper complex (GO:0036128)|motile cilium (GO:0031514)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|voltage-gated calcium channel activity (GO:0005245)			breast(3)|central_nervous_system(1)|endometrium(9)|kidney(3)|large_intestine(6)|liver(3)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44						AGAAGAATATGGAGTCCAAGG	0.562																																						ENST00000312106.5																			0				breast(3)|central_nervous_system(1)|endometrium(9)|kidney(3)|large_intestine(6)|liver(3)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44						c.(1453-1455)tcC>tcT		cation channel, sperm associated 1							144	129	134					11																	65789325		2201	4296	6497	SO:0001819	synonymous_variant	117144				cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	protein binding	g.chr11:65789325G>A	AF407333	CCDS8127.1	11q12.1	2011-07-05			ENSG00000175294	ENSG00000175294		"Voltage-gated ion channels / Cation channels, sperm associated"	17116	protein-coding gene	gene with protein product		606389				11675491, 11595941, 16382101	Standard	NM_053054		Approved	CATSPER	uc001ogt.3	Q8NEC5	OTTHUMG00000166668	ENST00000312106.5:c.1455C>T	11.37:g.65789325G>A							p.S485S	NM_053054.3	NP_444282.3	Q8NEC5	CTSR1_HUMAN			3	1592	-			485					Q96P76	Silent	SNP	ENST00000312106.5	37	c.1455C>T	CCDS8127.1																																																																																				0.562	CATSPER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391055.1	NM_053054		22	50	0	0	0	1	0	22	50					A	65789325	G	A	65789325	2	1	401	1	0	0	0	0	0	0	0	1	2687	1335	47	3		3	CATSPER1	11	65789325	Silent	SNP	G	TCGA-VN-A88L-01A-11D-A34U-08	8478818	65789325	69217191	20	19543											
SUV420H1	51111	broad.mit.edu	37	chr11	67938486	67938486	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttacttaataccttacctttCgcaagtgtaacactcgcaga	12	13	5	11	2	0	1	0	0	0	1	2	1	0	1	2	0	4	3	2	0	6	6			TCGA-VN-A88L-01A-11D-A34U-08	TCGA-VN-A88L-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ee4cc9c-82a2-4d65-9b90-7263e4dc6164	46d69be0-f87a-48cd-8096-675fec8dea31	g.chr11:67938486C>A	ENST00000304363.4	-	9	1326	c.973G>T	c.(973-975)Gaa>Taa	p.E325*	SUV420H1_ENST00000402789.1_Nonsense_Mutation_p.E325*|SUV420H1_ENST00000401547.2_Nonsense_Mutation_p.E325*|SUV420H1_ENST00000405515.1_Nonsense_Mutation_p.E325*|SUV420H1_ENST00000402185.2_Nonsense_Mutation_p.E302*	NM_017635.3	NP_060105	Q4FZB7	SV421_HUMAN	suppressor of variegation 4-20 homolog 1 (Drosophila)	325					histone H4-K20 trimethylation (GO:0034773)|muscle organ development (GO:0007517)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	condensed nuclear chromosome, centromeric region (GO:0000780)	histone methyltransferase activity (H4-K20 specific) (GO:0042799)|histone-lysine N-methyltransferase activity (GO:0018024)			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(15)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	46						CCTTACCTTTCGCAAGTGTAA	0.343																																						ENST00000304363.4																			0				NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(15)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	46						c.(973-975)Gaa>Taa		suppressor of variegation 4-20 homolog 1 (Drosophila)							79	78	78					11																	67938486		2199	4293	6492	SO:0001587	stop_gained	51111				regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding	g.chr11:67938486C>A	AL512763	CCDS31623.1, CCDS44660.1	11q13.2	2011-07-01			ENSG00000110066	ENSG00000110066		"Chromatin-modifying enzymes / K-methyltransferases"	24283	protein-coding gene	gene with protein product		610881				10810093, 11401438	Standard	NM_016028		Approved	CGI-85, KMT5B	uc001onm.1	Q4FZB7	OTTHUMG00000150484	ENST00000304363.4:c.973G>T	11.37:g.67938486C>A	ENSP00000305899:p.Glu325*					SUV420H1_ENST00000401547.2_Nonsense_Mutation_p.E325*|SUV420H1_ENST00000405515.1_Nonsense_Mutation_p.E325*|SUV420H1_ENST00000402789.1_Nonsense_Mutation_p.E325*|SUV420H1_ENST00000402185.2_Nonsense_Mutation_p.E302*	p.E325*	NM_017635.3	NP_060105.3	Q4FZB7	SV421_HUMAN			9	1326	-			325					B7WNX7|Q3SX56|Q4V775|Q6P150|Q96E44|Q9BUL0|Q9H022|Q9H2K3|Q9NXV3|Q9Y393	Nonsense_Mutation	SNP	ENST00000304363.4	37	c.973G>T	CCDS31623.1	.	.	.	.	.	.	.	.	.	.	C	34	5.390072	0.95988	.	.	ENSG00000110066	ENST00000304363;ENST00000401547;ENST00000405515;ENST00000402789;ENST00000402185	.	.	.	5.78	4.87	0.63330	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	16.9819	0.86329	0.0:0.8726:0.1274:0.0	.	.	.	.	X	325;325;325;325;302	.	ENSP00000305899:E325X	E	-	1	0	SUV420H1	67695062	1.000000	0.71417	0.999000	0.59377	0.664000	0.39144	7.818000	0.86416	1.439000	0.47511	0.650000	0.86243	GAA		0.343	SUV420H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318319.1	NM_017635		14	43	1	0	1.5739e-10	1	1.71698e-10	14	43					A	67938486	C	A	67938486	4	1	401	1	0	0	0	0	0	1	0	0	15411	893	31	5	1704	5	SUV420H1	11	67938486	Nonsense_Mutation	SNP	C	TCGA-VN-A88L-01A-11D-A34U-08	2149161	67938486	67068030	21	19544											
PDGFD	80310	broad.mit.edu	37	chr11	103870919	103870919	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gggaatctaggactctgcacGtagccgtttcctttcacctg	7	12	10	12	2	3	0	1	0	2	0	4	2	4	2	3	2	2	3	3	2	3	4	rs79967634	byFrequency	TCGA-VN-A88L-01A-11D-A34U-08	TCGA-VN-A88L-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ee4cc9c-82a2-4d65-9b90-7263e4dc6164	46d69be0-f87a-48cd-8096-675fec8dea31	g.chr11:103870919G>A	ENST00000393158.2	-	2	368	c.189C>T	c.(187-189)taC>taT	p.Y63Y	PDGFD_ENST00000302251.5_Silent_p.Y57Y			Q9GZP0	PDGFD_HUMAN	platelet derived growth factor D	63	CUB. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cellular response to amino acid stimulus (GO:0071230)|multicellular organismal development (GO:0007275)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of cell division (GO:0051781)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)				biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(8)|prostate(3)|upper_aerodigestive_tract(1)	23		Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Melanoma(852;0.0563)|all_neural(303;0.165)		BRCA - Breast invasive adenocarcinoma(274;0.00136)|Epithelial(105;0.111)		GACTCTGCACGTAGCCGTTTC	0.478													G|||	5	0.000998403	0.003	0.0014	5008	,	,		16919	0		0	False		,,,				2504	0					ENST00000302251.5																			0				biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(8)|prostate(3)|upper_aerodigestive_tract(1)	23						c.(169-171)taC>taT		platelet derived growth factor D		G	,	12,4392	19.1+/-41.9	0,12,2190	212	184	193		189,171	-3.8	0	11	dbSNP_133	193	0,8598		0,0,4299	no	coding-synonymous,coding-synonymous	PDGFD	NM_025208.4,NM_033135.3	,	0,12,6489	AA,AG,GG		0.0,0.2725,0.0923	,	63/371,57/365	103870919	12,12990	2202	4299	6501	SO:0001819	synonymous_variant	80310				positive regulation of cell division	endoplasmic reticulum lumen|extracellular region|Golgi membrane	growth factor activity	g.chr11:103870919G>A	AF113216	CCDS8326.1, CCDS41703.1	11q22.3	2008-02-05			ENSG00000170962	ENSG00000170962			30620	protein-coding gene	gene with protein product	"spinal cord derived growth factor B"	609673				11162582, 11980634	Standard	NM_033135		Approved	SCDGF-B, MSTP036, IEGF	uc001phq.3	Q9GZP0	OTTHUMG00000165953	ENST00000393158.2:c.189C>T	11.37:g.103870919G>A						PDGFD_ENST00000393158.2_Silent_p.Y63Y	p.Y57Y	NM_025208.4|NM_033135.3	NP_079484.1|NP_149126.1	Q9GZP0	PDGFD_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.00136)|Epithelial(105;0.111)	2	622	-		Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Melanoma(852;0.0563)|all_neural(303;0.165)	63			CUB.		A8K9T6|Q9BWV5	Silent	SNP	ENST00000393158.2	37	c.171C>T	CCDS41703.1																																																																																				0.478	PDGFD-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000387231.2	NM_025208		6	98	0	0	0	1	0	6	98					A	103870919	G	A	103870919	2	1	401	1	0	0	0	0	0	0	0	1	11660	1140	40	1		1	PDGFD	11	103870919	Silent	SNP	G	TCGA-VN-A88L-01A-11D-A34U-08	35932433	103870919	31135597	22	19545											
TMPRSS5	80975	broad.mit.edu	37	chr11	113560621	113560621	+	Frame_Shift_Del	DEL	G	G	-																															gtccccatctgggcacactaGggggcccccgctatctccct																										TCGA-VN-A88L-01A-11D-A34U-08	TCGA-VN-A88L-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ee4cc9c-82a2-4d65-9b90-7263e4dc6164	46d69be0-f87a-48cd-8096-675fec8dea31	g.chr11:113560621delG	ENST00000299882.5	-	12	1373	c.1225delC	c.(1225-1227)ctafs	p.L409fs	TMPRSS5_ENST00000545579.1_Frame_Shift_Del_p.L400fs|TMPRSS5_ENST00000536856.1_Intron|TMPRSS5_ENST00000544476.1_Frame_Shift_Del_p.L296fs|TMPRSS5_ENST00000545265.1_5'Flank|TMPRSS5_ENST00000544634.1_Frame_Shift_Del_p.L340fs|TMPRSS5_ENST00000540540.1_Frame_Shift_Del_p.L150fs|TMPRSS5_ENST00000538955.1_Frame_Shift_Del_p.L365fs	NM_030770.2	NP_110397.2	Q9H3S3	TMPS5_HUMAN	transmembrane protease, serine 5	409	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				proteolysis (GO:0006508)	integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	peptidase activity (GO:0008233)|scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)			endometrium(2)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)	10		all_cancers(61;2.71e-16)|all_epithelial(67;1e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0421)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;2.75e-06)|Epithelial(105;6.34e-05)|all cancers(92;0.000502)		GGGCACACTAGGGGGCCCCCG	0.607																																						ENST00000299882.5																			0				endometrium(2)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)	10						c.(1225-1227)tafs		transmembrane protease, serine 5							13	14	14					11																	113560621		1879	4097	5976	SO:0001589	frameshift_variant	80975				proteolysis	integral to membrane|plasma membrane	scavenger receptor activity|serine-type endopeptidase activity	g.chr11:113560621delG	AB028140	CCDS44735.1, CCDS73390.1, CCDS73391.1, CCDS73392.1, CCDS73393.1	11q	2010-04-13	2008-07-31		ENSG00000166682	ENSG00000166682		"Serine peptidases / Transmembrane"	14908	protein-coding gene	gene with protein product	"spinesin"	606751					Standard	NM_030770		Approved	MGC141886, MGC148044	uc001poc.4	Q9H3S3	OTTHUMG00000168186	ENST00000299882.5:c.1225delC	11.37:g.113560621delG	ENSP00000299882:p.Leu409fs					TMPRSS5_ENST00000544634.1_Frame_Shift_Del_p.L340fs|TMPRSS5_ENST00000544476.1_Frame_Shift_Del_p.L296fs|TMPRSS5_ENST00000540540.1_Frame_Shift_Del_p.L150fs|TMPRSS5_ENST00000545579.1_Frame_Shift_Del_p.L400fs|TMPRSS5_ENST00000538955.1_Frame_Shift_Del_p.L365fs|TMPRSS5_ENST00000536856.1_Intron	p.L409fs	NM_030770.2	NP_110397.2	Q9H3S3	TMPS5_HUMAN		BRCA - Breast invasive adenocarcinoma(274;2.75e-06)|Epithelial(105;6.34e-05)|all cancers(92;0.000502)	12	1373	-		all_cancers(61;2.71e-16)|all_epithelial(67;1e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0421)|Medulloblastoma(222;0.0425)	409			Peptidase S1.			Frame_Shift_Del	DEL	ENST00000299882.5	37	c.1225delC	CCDS44735.1																																																																																				0.607	TMPRSS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398652.1	NM_030770		2	4						2	4	---	---	---	---	-	113560621	G	-	113560621	7	5	401	1	0	1	0	1	0	0	0	0	16247	991	35	0	156	0	TMPRSS5	11	113560621	Frame_Shift_Del	DEL	G	TCGA-VN-A88L-01A-11D-A34U-08	9689702	113560621	21445895	23	19546											
TRIM29	23650	broad.mit.edu	37	chr11	119998053	119998053	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tggcttgttacctgcagaaaCaacacagagtcgctgatgct	11	10	10	10	1	0	3	0	1	0	2	1	3	0	3	1	1	5	5	1	1	3	2			TCGA-VN-A88L-01A-11D-A34U-08	TCGA-VN-A88L-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ee4cc9c-82a2-4d65-9b90-7263e4dc6164	46d69be0-f87a-48cd-8096-675fec8dea31	g.chr11:119998053C>A	ENST00000341846.5	-	3	1546	c.1125G>T	c.(1123-1125)ttG>ttT	p.L375F	TRIM29_ENST00000541857.1_Missense_Mutation_p.L108F|TRIM29_ENST00000528870.1_5'Flank|TRIM29_ENST00000529044.1_Missense_Mutation_p.L114F	NM_012101.3	NP_036233.2	Q14134	TRI29_HUMAN	tripartite motif containing 29	375					negative regulation of protein localization to nucleus (GO:1900181)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)	sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	30		Breast(109;0.00117)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.37e-06)		CCTGCAGAAACAACACAGAGT	0.522																																						ENST00000341846.5																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	30						c.(1123-1125)ttG>ttT		tripartite motif containing 29							83	79	81					11																	119998053		2199	4295	6494	SO:0001583	missense	23650				transcription from RNA polymerase II promoter	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr11:119998053C>A	AF230388	CCDS8428.1	11q23.3	2011-04-20	2011-01-25		ENSG00000137699	ENSG00000137699		"Tripartite motif containing / Tripartite motif containing"	17274	protein-coding gene	gene with protein product	"tripartite motif protein TRIM29", "ataxia-telangiectasia group D-associated protein"	610658	"tripartite motif-containing 29"			11331580	Standard	NM_012101		Approved	ATDC, FLJ36085	uc001pwz.3	Q14134	OTTHUMG00000140377	ENST00000341846.5:c.1125G>T	11.37:g.119998053C>A	ENSP00000343129:p.Leu375Phe					TRIM29_ENST00000529044.1_Missense_Mutation_p.L114F|TRIM29_ENST00000541857.1_Missense_Mutation_p.L108F	p.L375F	NM_012101.3	NP_036233.2	Q14134	TRI29_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.37e-06)	3	1546	-		Breast(109;0.00117)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	375					Q96AA9|Q9BZY7	Missense_Mutation	SNP	ENST00000341846.5	37	c.1125G>T	CCDS8428.1	.	.	.	.	.	.	.	.	.	.	C	18.23	3.578248	0.65878	.	.	ENSG00000137699	ENST00000341846;ENST00000541857;ENST00000529044	T	0.40225	1.04	5.14	-5.58	0.02512	.	0.000000	0.52532	D	0.000073	T	0.36908	0.0984	N	0.24115	0.695	0.43326	D	0.995355	D;D;D	0.89917	0.999;0.999;1.0	D;D;D	0.85130	0.996;0.996;0.997	T	0.45818	-0.9235	9	.	.	.	.	6.4035	0.21652	0.082:0.2457:0.4836:0.1888	.	108;114;375	B7Z8U9;E9PRL4;Q14134	.;.;TRI29_HUMAN	F	375;108;114	ENSP00000343129:L375F	.	L	-	3	2	TRIM29	119503263	0.920000	0.31207	0.964000	0.40570	0.786000	0.44442	-0.048000	0.11944	-0.689000	0.05149	-0.175000	0.13238	TTG		0.522	TRIM29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277108.2	NM_012101		7	41	1	0	0.27861	1	0.27861	7	41					A	119998053	C	A	119998053	3	1	401	1	0	0	0	0	1	0	0	0	16500	477	17	5	669	5	TRIM29	11	119998053	Missense_Mutation	SNP	C	TCGA-VN-A88L-01A-11D-A34U-08	6437432	119998053	15008463	24	19547											
NCKAP1L	3071	broad.mit.edu	37	chr12	54925128	54925128	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtggcatgtgacctctcagaTtgtggagctgaaggtactat	9	12	13	7	0	1	3	1	2	1	1	2	4	1	4	1	3	2	3	1	3	3	3			TCGA-VN-A88L-01A-11D-A34U-08	TCGA-VN-A88L-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ee4cc9c-82a2-4d65-9b90-7263e4dc6164	46d69be0-f87a-48cd-8096-675fec8dea31	g.chr12:54925128T>C	ENST00000293373.6	+	23	2670	c.2591T>C	c.(2590-2592)aTt>aCt	p.I864T	NCKAP1L_ENST00000545638.2_Missense_Mutation_p.I814T	NM_005337.4	NP_005328.2	P55160	NCKPL_HUMAN	NCK-associated protein 1-like	864					actin polymerization-dependent cell motility (GO:0070358)|B cell homeostasis (GO:0001782)|B cell receptor signaling pathway (GO:0050853)|chemotaxis (GO:0006935)|cortical actin cytoskeleton organization (GO:0030866)|erythrocyte development (GO:0048821)|maintenance of cell polarity (GO:0030011)|myeloid cell homeostasis (GO:0002262)|negative regulation of apoptotic process (GO:0043066)|negative regulation of interleukin-17 production (GO:0032700)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of myosin-light-chain-phosphatase activity (GO:0035509)|neutrophil chemotaxis (GO:0030593)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of CD4-positive, alpha-beta T cell differentiation (GO:0043372)|positive regulation of CD8-positive, alpha-beta T cell differentiation (GO:0043378)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of gamma-delta T cell differentiation (GO:0045588)|positive regulation of lymphocyte differentiation (GO:0045621)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of phagocytosis, engulfment (GO:0060100)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of T cell proliferation (GO:0042102)|protein complex assembly (GO:0006461)|response to drug (GO:0042493)|T cell homeostasis (GO:0043029)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|SCAR complex (GO:0031209)	protein complex binding (GO:0032403)|protein kinase activator activity (GO:0030295)|Rac GTPase activator activity (GO:0030675)			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2)	80						ACCTCTCAGATTGTGGAGCTG	0.502																																						ENST00000293373.6																			0				NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2)	80						c.(2590-2592)aTt>aCt		NCK-associated protein 1-like							158	164	162					12																	54925128		2203	4300	6503	SO:0001583	missense	3071				actin polymerization-dependent cell motility|B cell homeostasis|B cell receptor signaling pathway|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of actin filament polymerization|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|positive regulation of T cell proliferation|protein complex assembly|response to drug|T cell homeostasis	cytosol|integral to plasma membrane|membrane fraction|SCAR complex	protein complex binding|protein kinase activator activity|Rac GTPase activator activity	g.chr12:54925128T>C	AI924363	CCDS31813.1, CCDS53799.1	12q13.1	2005-10-11	2005-10-11	2005-10-11		ENSG00000123338			4862	protein-coding gene	gene with protein product		141180	"hematopoietic protein 1"	HEM1		1932118	Standard	NM_005337		Approved		uc001sgc.4	P55160	OTTHUMG00000169843	ENST00000293373.6:c.2591T>C	12.37:g.54925128T>C	ENSP00000293373:p.Ile864Thr					NCKAP1L_ENST00000545638.2_Missense_Mutation_p.I814T	p.I864T	NM_005337.4	NP_005328.2	P55160	NCKPL_HUMAN			23	2670	+			864					B4DUT5|Q52LW0	Missense_Mutation	SNP	ENST00000293373.6	37	c.2591T>C	CCDS31813.1	.	.	.	.	.	.	.	.	.	.	T	16.11	3.029309	0.54790	.	.	ENSG00000123338	ENST00000293373;ENST00000545638	T;T	0.36520	1.25;1.25	4.66	4.66	0.58398	.	0.064020	0.64402	D	0.000009	T	0.34687	0.0906	L	0.55990	1.75	0.47214	D	0.999358	B	0.31413	0.322	B	0.32211	0.142	T	0.22034	-1.0228	10	0.48119	T	0.1	-14.9018	12.3845	0.55325	0.0:0.0:0.0:1.0	.	864	P55160	NCKPL_HUMAN	T	864;814	ENSP00000293373:I864T;ENSP00000445596:I814T	ENSP00000293373:I864T	I	+	2	0	NCKAP1L	53211395	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.677000	0.84024	2.094000	0.63399	0.459000	0.35465	ATT		0.502	NCKAP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406195.1	NM_005337		4	217	0	0	0	1	0	4	217					C	54925128	T	C	54925128	3	2	401	1	0	0	0	0	1	0	0	0	10222	1493	52	4	2681	4	NCKAP1L	12	54925128	Missense_Mutation	SNP	T	TCGA-VN-A88L-01A-11D-A34U-08		54925128	78926767	25	19548											
ARHGAP9	64333	broad.mit.edu	37	chr12	57868688	57868688	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cacagcagcaatgcagagccGcaaaaagctgggcaccgtgt	13	4	12	12	2	0	1	0	0	0	1	0	1	0	1	2	1	5	6	2	1	3	0			TCGA-VN-A88L-01A-11D-A34U-08	TCGA-VN-A88L-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ee4cc9c-82a2-4d65-9b90-7263e4dc6164	46d69be0-f87a-48cd-8096-675fec8dea31	g.chr12:57868688G>A	ENST00000356411.2	-	13	1816	c.1678C>T	c.(1678-1680)Cgg>Tgg	p.R560W	ARHGAP9_ENST00000430041.2_Missense_Mutation_p.R357W|ARHGAP9_ENST00000393791.3_Missense_Mutation_p.R541W|ARHGAP9_ENST00000550454.1_5'Flank|ARHGAP9_ENST00000424809.2_Missense_Mutation_p.R541W|ARHGAP9_ENST00000550288.1_Missense_Mutation_p.R620W|ARHGAP9_ENST00000393797.2_Missense_Mutation_p.R631W			Q9BRR9	RHG09_HUMAN	Rho GTPase activating protein 9	560	Lipid binding.|Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				positive regulation of GTPase activity (GO:0043547)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)			endometrium(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(1)	30			GBM - Glioblastoma multiforme(3;3.37e-34)			ATGCAGAGCCGCAAAAAGCTG	0.547																																						ENST00000393797.2																			0				endometrium(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(1)	30						c.(1891-1893)Cgg>Tgg		Rho GTPase activating protein 9							55	53	54					12																	57868688		2203	4300	6503	SO:0001583	missense	64333				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding	g.chr12:57868688G>A	AB051853	CCDS8941.2, CCDS44928.1, CCDS44929.1	12q13.3	2013-01-10			ENSG00000123329	ENSG00000123329		"Rho GTPase activating proteins", "Pleckstrin homology (PH) domain containing"	14130	protein-coding gene	gene with protein product		610576				11396949	Standard	NM_032496		Approved	MGC1295, 10C	uc001soc.3	Q9BRR9	OTTHUMG00000150147	ENST00000356411.2:c.1678C>T	12.37:g.57868688G>A	ENSP00000348782:p.Arg560Trp					ARHGAP9_ENST00000550288.1_Missense_Mutation_p.R620W|ARHGAP9_ENST00000430041.2_Missense_Mutation_p.R357W|ARHGAP9_ENST00000393791.3_Missense_Mutation_p.R541W|ARHGAP9_ENST00000356411.2_Missense_Mutation_p.R560W|ARHGAP9_ENST00000424809.2_Missense_Mutation_p.R541W	p.R631W			Q9BRR9	RHG09_HUMAN	GBM - Glioblastoma multiforme(3;3.37e-34)		16	2083	-			560			Rho-GAP.		B4DVI3|E9PDX9|Q8NAF3|Q8TCJ3|Q8WYR0|Q96EZ2|Q96S74	Missense_Mutation	SNP	ENST00000356411.2	37	c.1891C>T		.	.	.	.	.	.	.	.	.	.	G	18.53	3.644828	0.67358	.	.	ENSG00000123329	ENST00000393791;ENST00000356411;ENST00000423291;ENST00000424809;ENST00000393797;ENST00000340423;ENST00000430041;ENST00000550130	T;T;T;T;T;T	0.20200	2.09;2.09;2.09;2.09;2.09;2.09	5.2	3.31	0.37934	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	0.126110	0.52532	D	0.000063	T	0.39436	0.1078	L	0.55834	1.745	0.44268	D	0.997121	D;D;D;D;P	0.89917	0.999;1.0;0.998;1.0;0.94	D;D;P;D;B	0.87578	0.916;0.998;0.809;0.997;0.362	T	0.13072	-1.0523	10	0.56958	D	0.05	.	12.3366	0.55071	0.0:0.0:0.6927:0.3072	.	620;560;541;541;357	Q6ZN13;Q9BRR9;Q9BRR9-2;E9PDX9;B4DVI3	.;RHG09_HUMAN;.;.;.	W	541;560;211;541;631;590;357;48	ENSP00000377380:R541W;ENSP00000348782:R560W;ENSP00000394307:R541W;ENSP00000377386:R631W;ENSP00000397950:R357W;ENSP00000448423:R48W	ENSP00000344852:R590W	R	-	1	2	ARHGAP9	56154955	0.011000	0.17503	0.986000	0.45419	0.989000	0.77384	1.565000	0.36386	0.814000	0.34374	-0.175000	0.13238	CGG		0.547	ARHGAP9-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_032496		3	47	0	0	0	1	0	3	47					A	57868688	G	A	57868688	3	1	401	1	0	0	0	0	1	0	0	0	889	1086	38	1	598	1	ARHGAP9	12	57868688	Missense_Mutation	SNP	G	TCGA-VN-A88L-01A-11D-A34U-08	2943560	57868688	75983207	26	19549											
AP1G2	8906	broad.mit.edu	37	chr14	24035556	24035556	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggggccaggtctcggcacatCtcagcagagcccatggtgct	7	7	14	13	1	2	1	1	0	2	1	4	1	2	1	2	5	3	3	2	5	0	0			TCGA-VN-A88L-01A-11D-A34U-08	TCGA-VN-A88L-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ee4cc9c-82a2-4d65-9b90-7263e4dc6164	46d69be0-f87a-48cd-8096-675fec8dea31	g.chr14:24035556C>T	ENST00000308724.5	-	3	1157	c.402G>A	c.(400-402)gaG>gaA	p.E134E	RP11-66N24.3_ENST00000555968.1_RNA|AP1G2_ENST00000556277.1_5'UTR|AP1G2_ENST00000397120.3_Silent_p.E134E	NM_003917.2	NP_003908.1	O75843	AP1G2_HUMAN	adaptor-related protein complex 1, gamma 2 subunit	134					intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)|viral process (GO:0016032)	AP-1 adaptor complex (GO:0030121)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|Golgi-associated vesicle (GO:0005798)|membrane (GO:0016020)|transport vesicle (GO:0030133)	protein transporter activity (GO:0008565)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(10)|lung(4)|ovary(1)|pancreas(1)|stomach(1)	28	all_cancers(95;0.000251)			GBM - Glioblastoma multiforme(265;0.00672)		CTCGGCACATCTCAGCAGAGC	0.617																																						ENST00000308724.5																			0				breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(10)|lung(4)|ovary(1)|pancreas(1)|stomach(1)	28						c.(400-402)gaG>gaA		adaptor-related protein complex 1, gamma 2 subunit							67	64	65					14																	24035556		2203	4300	6503	SO:0001819	synonymous_variant	8906				interspecies interaction between organisms|intracellular protein transport|vesicle-mediated transport	AP-1 adaptor complex|endosome membrane	protein binding|protein transporter activity	g.chr14:24035556C>T	AB015318	CCDS9602.1	14q11.2	2008-07-03			ENSG00000213983	ENSG00000213983			556	protein-coding gene	gene with protein product		603534				9733768, 9762922	Standard	XM_005268167		Approved	G2AD	uc001wkl.2	O75843	OTTHUMG00000028760	ENST00000308724.5:c.402G>A	14.37:g.24035556C>T						AP1G2_ENST00000397120.3_Silent_p.E134E|RP11-66N24.3_ENST00000555968.1_RNA|AP1G2_ENST00000556277.1_5'UTR	p.E134E	NM_003917.2	NP_003908.1	O75843	AP1G2_HUMAN		GBM - Glioblastoma multiforme(265;0.00672)	3	1157	-	all_cancers(95;0.000251)		134					D3DS51|O75504	Silent	SNP	ENST00000308724.5	37	c.402G>A	CCDS9602.1																																																																																				0.617	AP1G2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071812.4	NM_003917		21	44	0	0	0	1	0	21	44					T	24035556	C	T	24035556	2	4	401	1	0	0	0	0	0	0	0	1	733	912	32	3		3	AP1G2	14	24035556	Silent	SNP	C	TCGA-VN-A88L-01A-11D-A34U-08		24035556	83313984	27	19550											
SERPINA6	866	broad.mit.edu	37	chr14	94776285	94776285	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accttcaccacagttgtctcGtccacatagaagttctcctc	9	12	5	15	1	3	1	1	0	2	1	7	1	4	1	4	0	0	2	4	0	2	4			TCGA-VN-A88L-01A-11D-A34U-08	TCGA-VN-A88L-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ee4cc9c-82a2-4d65-9b90-7263e4dc6164	46d69be0-f87a-48cd-8096-675fec8dea31	g.chr14:94776285G>A	ENST00000341584.3	-	3	818	c.672C>T	c.(670-672)gaC>gaT	p.D224D		NM_001756.3	NP_001747	P08185	CBG_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 6	224					glucocorticoid metabolic process (GO:0008211)|negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)|transport (GO:0006810)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase inhibitor activity (GO:0004867)|steroid binding (GO:0005496)			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(11)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	26		all_cancers(154;0.0482)|all_epithelial(191;0.166)		COAD - Colon adenocarcinoma(157;0.211)	Alclometasone(DB00240)|Beclomethasone(DB00394)|Ciclesonide(DB01410)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Halobetasol Propionate(DB00596)|Medrysone(DB00253)|Mitotane(DB00648)|Paramethasone(DB01384)|Prednisolone(DB00860)|Rimexolone(DB00896)|Triamcinolone(DB00620)	CAGTTGTCTCGTCCACATAGA	0.547																																						ENST00000341584.3																			0				central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(11)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	26						c.(670-672)gaC>gaT		serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 6	Alclometasone(DB00240)|Beclomethasone(DB00394)|Ciclesonide(DB01410)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Halobetasol Propionate(DB00596)|Medrysone(DB00253)|Mitotane(DB00648)|Paramethasone(DB01384)|Prednisolone(DB00860)|Rimexolone(DB00896)|Triamcinolone(DB00620)						125	96	106					14																	94776285		2203	4300	6503	SO:0001819	synonymous_variant	866				regulation of proteolysis|transport	extracellular space	serine-type endopeptidase inhibitor activity|steroid binding	g.chr14:94776285G>A	J02943	CCDS9924.1	14q32.13	2014-02-18	2005-08-18		ENSG00000170099	ENSG00000170099		"Serine (or cysteine) peptidase inhibitors"	1540	protein-coding gene	gene with protein product	"corticosteroid binding globulin", "transcortin"	122500	"serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 6"	CBG		3299377, 7912884, 24172014	Standard	NM_001756		Approved		uc001ycv.3	P08185	OTTHUMG00000171346	ENST00000341584.3:c.672C>T	14.37:g.94776285G>A							p.D224D	NM_001756.3	NP_001747.2	P08185	CBG_HUMAN		COAD - Colon adenocarcinoma(157;0.211)	3	818	-		all_cancers(154;0.0482)|all_epithelial(191;0.166)	224					A8K456|Q7Z2Q9	Silent	SNP	ENST00000341584.3	37	c.672C>T	CCDS9924.1																																																																																				0.547	SERPINA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413065.1	NM_001756		13	37	0	0	0	1	0	13	37					A	94776285	G	A	94776285	2	1	401	1	0	0	0	0	0	0	0	1	14093	1136	40	1		1	SERPINA6	14	94776285	Silent	SNP	G	TCGA-VN-A88L-01A-11D-A34U-08	70740729	94776285	12573255	28	19551											
TGM5	9333	broad.mit.edu	37	chr15	43545071	43545071	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtccactccgcagggttggCgccgtctgtgtaattctcac	5	11	11	14	4	2	0	1	0	2	0	5	0	4	0	3	2	0	3	3	2	1	3	rs113766373		TCGA-VN-A88L-01A-11D-A34U-08	TCGA-VN-A88L-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ee4cc9c-82a2-4d65-9b90-7263e4dc6164	46d69be0-f87a-48cd-8096-675fec8dea31	g.chr15:43545071C>T	ENST00000220420.5	-	6	755	c.748G>A	c.(748-750)Gcc>Acc	p.A250T	TGM5_ENST00000349114.4_Missense_Mutation_p.A168T	NM_201631.3	NP_963925.2	O43548	TGM5_HUMAN	transglutaminase 5	250					cellular protein modification process (GO:0006464)|epidermis development (GO:0008544)|peptide cross-linking (GO:0018149)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(11)|lung(15)|skin(6)|urinary_tract(1)	44		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;4e-07)	L-Glutamine(DB00130)	GCAGGGTTGGCGCCGTCTGTG	0.547																																						ENST00000220420.5																			0				central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(11)|lung(15)|skin(6)|urinary_tract(1)	44						c.(748-750)Gcc>Acc		transglutaminase 5	L-Glutamine(DB00130)						84	74	77					15																	43545071		2202	4299	6501	SO:0001583	missense	9333				epidermis development|peptide cross-linking	cytoplasm	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity	g.chr15:43545071C>T	AF035960	CCDS32211.1, CCDS32212.1	15q15	2004-07-07				ENSG00000104055		"Transglutaminases"	11781	protein-coding gene	gene with protein product		603805				9452468, 11390390	Standard	NM_201631		Approved	TGX	uc001zrd.2	O43548		ENST00000220420.5:c.748G>A	15.37:g.43545071C>T	ENSP00000220420:p.Ala250Thr					TGM5_ENST00000349114.4_Missense_Mutation_p.A168T	p.A250T	NM_201631.3	NP_963925.2	O43548	TGM5_HUMAN		GBM - Glioblastoma multiforme(94;4e-07)	6	755	-		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.216)	250					O43549|Q0VF40|Q9UEZ4	Missense_Mutation	SNP	ENST00000220420.5	37	c.748G>A	CCDS32212.1	.	.	.	.	.	.	.	.	.	.	C	1.823	-0.471774	0.04445	.	.	ENSG00000104055	ENST00000220420;ENST00000349114;ENST00000396996	D;D	0.88741	-2.42;-2.42	4.64	-2.06	0.07298	.	0.859290	0.10232	N	0.699506	T	0.56761	0.2007	N	0.00237	-1.79	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.09377	0.004;0.002	T	0.58781	-0.7576	10	0.07990	T	0.79	-0.7873	5.64	0.17559	0.0:0.4178:0.1428:0.4394	.	168;250	O43548-2;O43548	.;TGM5_HUMAN	T	250;168;249	ENSP00000220420:A250T;ENSP00000220419:A168T	ENSP00000220420:A250T	A	-	1	0	TGM5	41332363	0.000000	0.05858	0.001000	0.08648	0.053000	0.15095	-0.449000	0.06812	-0.270000	0.09285	-0.291000	0.09656	GCC		0.547	TGM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432257.1	NM_004245		5	84	0	0	0	1	0	5	84					T	43545071	C	T	43545071	3	4	401	1	0	0	0	0	1	0	0	0	15830	768	27	1	1446	1	TGM5	15	43545071	Missense_Mutation	SNP	C	TCGA-VN-A88L-01A-11D-A34U-08		43545071	58986321	29	19552											
IL34	146433	broad.mit.edu	37	chr16	70693984	70693984	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agagccctcattgcagtatgCggccacccagctgtaccctc	8	8	9	16	1	1	1	1	0	0	1	2	1	1	1	4	1	5	4	4	1	2	3	rs201277640		TCGA-VN-A88L-01A-11D-A34U-08	TCGA-VN-A88L-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ee4cc9c-82a2-4d65-9b90-7263e4dc6164	46d69be0-f87a-48cd-8096-675fec8dea31	g.chr16:70693984C>T	ENST00000288098.2	+	6	1006	c.623C>T	c.(622-624)gCg>gTg	p.A208V	IL34_ENST00000566361.1_Missense_Mutation_p.A183V|FLJ00418_ENST00000597002.1_5'Flank|IL34_ENST00000429149.2_Missense_Mutation_p.A208V	NM_001172772.1	NP_001166243.1	Q6ZMJ4	IL34_HUMAN	interleukin 34	208					inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of cell proliferation (GO:0008284)|positive regulation of protein phosphorylation (GO:0001934)	extracellular space (GO:0005615)	macrophage colony-stimulating factor receptor binding (GO:0005157)	p.A208V(1)		breast(1)|central_nervous_system(1)|kidney(9)|large_intestine(1)|lung(1)|skin(2)|urinary_tract(2)	17						TTGCAGTATGCGGCCACCCAG	0.647													C|||	1	0.000199681	0	0	5008	,	,		14065	0		0.001	False		,,,				2504	0					ENST00000429149.2																			1	Substitution - Missense(1)	p.A208V(1)	urinary_tract(1)	breast(1)|central_nervous_system(1)|kidney(9)|large_intestine(1)|lung(1)|skin(2)|urinary_tract(2)	17						c.(622-624)gCg>gTg		interleukin 34		C	VAL/ALA,VAL/ALA,VAL/ALA	1,4395	2.1+/-5.4	0,1,2197	96	105	102		620,623,623	-3.1	0	16		102	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	IL34	NM_001172771.1,NM_001172772.1,NM_152456.2	64,64,64	0,2,6496	TT,TC,CC		0.0116,0.0227,0.0154	benign,benign,benign	207/242,208/243,208/243	70693984	2,12994	2198	4300	6498	SO:0001583	missense	146433				positive regulation of cell proliferation|positive regulation of protein phosphorylation	extracellular space	cytokine activity|growth factor activity|macrophage colony-stimulating factor receptor binding	g.chr16:70693984C>T	BC029804	CCDS10895.1	16q22.1	2008-08-01	2008-06-04	2008-06-04	ENSG00000157368	ENSG00000157368		"Interleukins and interleukin receptors"	28529	protein-coding gene	gene with protein product		612081	"chromosome 16 open reading frame 77"	C16orf77		18467591	Standard	NM_152456		Approved	MGC34647, IL-34	uc002ezh.2	Q6ZMJ4	OTTHUMG00000137581	ENST00000288098.2:c.623C>T	16.37:g.70693984C>T	ENSP00000288098:p.Ala208Val					IL34_ENST00000288098.2_Missense_Mutation_p.A208V|IL34_ENST00000566361.1_Missense_Mutation_p.A183V	p.A208V	NM_001172771.1|NM_152456.2	NP_001166242.1|NP_689669.2	Q6ZMJ4	IL34_HUMAN			7	1178	+			208					B2RC28|B2Z4A8|B2ZC70|Q8N6L2	Missense_Mutation	SNP	ENST00000288098.2	37	c.623C>T	CCDS10895.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	1.250	-0.618797	0.03663	2.27E-4	1.16E-4	ENSG00000157368	ENST00000429149;ENST00000288098	T;T	0.34667	1.35;1.35	4.69	-3.08	0.05347	.	2.218580	0.03059	N	0.155676	T	0.10294	0.0252	N	0.01352	-0.895	0.09310	N	1	B;B	0.17465	0.022;0.022	B;B	0.08055	0.003;0.003	T	0.24261	-1.0165	10	0.05436	T	0.98	-0.0424	4.1458	0.10215	0.4149:0.3737:0.0:0.2114	.	207;208	Q6ZMJ4-2;Q6ZMJ4	.;IL34_HUMAN	V	208	ENSP00000397863:A208V;ENSP00000288098:A208V	ENSP00000288098:A208V	A	+	2	0	IL34	69251485	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-1.807000	0.01734	-0.832000	0.04251	-1.552000	0.00895	GCG		0.647	IL34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268971.3	NM_152456		4	187	0	0	0	1	0	4	187					T	70693984	C	T	70693984	3	4	401	1	0	0	0	0	1	0	0	0	7694	768	27	1	645	1	IL34	16	70693984	Missense_Mutation	SNP	C	TCGA-VN-A88L-01A-11D-A34U-08		70693984	19660769	30	19553											
HYDIN	54768	broad.mit.edu	37	chr16	70902478	70902478	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gatgtccccacttacttttcGttttgtagtgaaagtcccag	8	15	8	10	1	0	1	0	1	0	0	3	2	2	1	3	0	1	2	3	0	3	6			TCGA-VN-A88L-01A-11D-A34U-08	TCGA-VN-A88L-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ee4cc9c-82a2-4d65-9b90-7263e4dc6164	46d69be0-f87a-48cd-8096-675fec8dea31	g.chr16:70902478G>A	ENST00000393567.2	-	66	11455	c.11305C>T	c.(11305-11307)Cga>Tga	p.R3769*	SNORD112_ENST00000515891.1_RNA	NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	3769					cilium assembly (GO:0042384)|cilium movement (GO:0003341)|epithelial cell development (GO:0002064)|trachea development (GO:0060438)|ventricular system development (GO:0021591)	cell projection (GO:0042995)				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				CTTACTTTTCGTTTTGTAGTG	0.507																																						ENST00000393567.2																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43						c.(11305-11307)Cga>Tga		HYDIN, axonemal central pair apparatus protein							39	36	37					16																	70902478		1814	4044	5858	SO:0001587	stop_gained	54768							g.chr16:70902478G>A	AK074472	CCDS10897.1, CCDS56004.1, CCDS56005.1, CCDS59269.1	16q22.2	2014-02-05	2012-01-06		ENSG00000157423	ENSG00000157423		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	19368	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 31"	610812	"hydrocephalus inducing", "hydrocephalus inducing homolog (mouse)"			12719380, 23022101	Standard	NM_001198542		Approved	DKFZp434D0513, KIAA1864, PPP1R31, CILD5	uc031qwy.1	Q4G0P3	OTTHUMG00000137584	ENST00000393567.2:c.11305C>T	16.37:g.70902478G>A	ENSP00000377197:p.Arg3769*						p.R3769*	NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN			66	11455	-		Ovarian(137;0.0654)	3769					A6NC70|A6NLZ0|B4DQY4|B4DRN4|F5H6V3|Q8N3H8|Q8N3P6|Q8TC08|Q96JG3|Q96SS4|Q9H5U3|Q9H9B8|Q9NTI0|Q9UBE5	Nonsense_Mutation	SNP	ENST00000393567.2	37	c.11305C>T	CCDS59269.1	.	.	.	.	.	.	.	.	.	.	G	53	20.983958	0.99936	.	.	ENSG00000157423	ENST00000393567;ENST00000316490	.	.	.	5.17	3.06	0.35304	.	0.456909	0.13210	U	0.405214	.	.	.	.	.	.	0.30143	N	0.803773	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	8.3301	0.32180	0.0:0.0986:0.5008:0.4007	.	.	.	.	X	3769;3768	.	ENSP00000313052:R3768X	R	-	1	2	HYDIN	69459979	1.000000	0.71417	0.562000	0.28370	0.973000	0.67179	2.292000	0.43549	0.483000	0.27608	0.511000	0.50034	CGA		0.507	HYDIN-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000398624.3			8	21	0	0	0	1	0	8	21					A	70902478	G	A	70902478	4	1	401	1	0	0	0	0	0	1	0	0	7467	1153	40	1	4144	1	HYDIN	16	70902478	Nonsense_Mutation	SNP	G	TCGA-VN-A88L-01A-11D-A34U-08	208494	70902478	19452275	31	19554											
AP1G1	164	broad.mit.edu	37	chr16	71779049	71779049	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agctccagactgcctcacctGtaaggttgatgtctcccagc	8	10	9	14	0	2	2	1	1	1	1	4	2	3	2	4	1	3	3	4	1	1	2			TCGA-VN-A88L-01A-11D-A34U-08	TCGA-VN-A88L-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ee4cc9c-82a2-4d65-9b90-7263e4dc6164	46d69be0-f87a-48cd-8096-675fec8dea31	g.chr16:71779049G>A	ENST00000299980.4	-	19	2438	c.1997C>T	c.(1996-1998)aCa>aTa	p.T666I	AP1G1_ENST00000393512.3_Missense_Mutation_p.T669I|AP1G1_ENST00000569748.1_Missense_Mutation_p.T666I|AP1G1_ENST00000423132.2_Missense_Mutation_p.T669I|AP1G1_ENST00000564155.1_Missense_Mutation_p.T91I|AP1G1_ENST00000433195.2_Missense_Mutation_p.T689I	NM_001128.5	NP_001119.3	O43747	AP1G1_HUMAN	adaptor-related protein complex 1, gamma 1 subunit	666					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|endosome to melanosome transport (GO:0035646)|Golgi to lysosome transport (GO:0090160)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|membrane organization (GO:0061024)|positive regulation of natural killer cell degranulation (GO:0043323)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of defense response to virus by virus (GO:0050690)|viral process (GO:0016032)	AP-type membrane coat adaptor complex (GO:0030119)|clathrin adaptor complex (GO:0030131)|clathrin-coated vesicle (GO:0030136)|clathrin-coated vesicle membrane (GO:0030665)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)|trans-Golgi network membrane (GO:0032588)	GTP-dependent protein binding (GO:0030742)|kinesin binding (GO:0019894)|protein transporter activity (GO:0008565)|Rab GTPase binding (GO:0017137)|transporter activity (GO:0005215)			breast(1)|endometrium(8)|large_intestine(6)|lung(7)|ovary(4)|pancreas(1)|urinary_tract(1)	28		Ovarian(137;0.125)				TGCCTCACCTGTAAGGTTGAT	0.448																																						ENST00000299980.4																			0				breast(1)|endometrium(8)|large_intestine(6)|lung(7)|ovary(4)|pancreas(1)|urinary_tract(1)	28						c.(1996-1998)aCa>aTa		adaptor-related protein complex 1, gamma 1 subunit							91	91	91					16																	71779049		2198	4300	6498	SO:0001583	missense	164				endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction	clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane|recycling endosome	kinesin binding|protein transporter activity	g.chr16:71779049G>A	Y12226	CCDS32480.1, CCDS45522.1	16q23	2009-08-03				ENSG00000166747			555	protein-coding gene	gene with protein product	"gamma1-adaptin"	603533		CLAPG1, ADTG		9653655, 9733768	Standard	NM_001128		Approved		uc010cgg.3	O43747		ENST00000299980.4:c.1997C>T	16.37:g.71779049G>A	ENSP00000299980:p.Thr666Ile					AP1G1_ENST00000569748.1_Missense_Mutation_p.T666I|AP1G1_ENST00000564155.1_Missense_Mutation_p.T91I|AP1G1_ENST00000433195.2_Missense_Mutation_p.T689I|AP1G1_ENST00000423132.2_Missense_Mutation_p.T669I|AP1G1_ENST00000393512.3_Missense_Mutation_p.T669I	p.T666I	NM_001128.5	NP_001119.3	O43747	AP1G1_HUMAN			19	2438	-		Ovarian(137;0.125)	666					O75709|O75842|Q9UG09|Q9Y3U4	Missense_Mutation	SNP	ENST00000299980.4	37	c.1997C>T	CCDS32480.1	.	.	.	.	.	.	.	.	.	.	G	12.51	1.959972	0.34565	.	.	ENSG00000166747	ENST00000299980;ENST00000393512;ENST00000423132;ENST00000433195	T;T;T;T	0.15139	2.45;2.45;2.46;2.45	5.04	5.04	0.67666	.	0.269702	0.40469	N	0.001087	T	0.11879	0.0289	N	0.14661	0.345	0.47009	D	0.999287	B;B;B	0.20261	0.043;0.023;0.041	B;B;B	0.24848	0.032;0.028;0.056	T	0.13899	-1.0492	10	0.31617	T	0.26	-3.5703	14.3833	0.66926	0.0:0.1477:0.8523:0.0	.	666;689;669	O43747;B3KXW5;O43747-2	AP1G1_HUMAN;.;.	I	666;669;669;689	ENSP00000299980:T666I;ENSP00000377148:T669I;ENSP00000409153:T669I;ENSP00000403259:T689I	ENSP00000299980:T666I	T	-	2	0	AP1G1	70336550	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.627000	0.67784	2.523000	0.85059	0.555000	0.69702	ACA		0.448	AP1G1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434147.1			8	88	0	0	0	1	0	8	88					A	71779049	G	A	71779049	3	1	401	1	0	0	0	0	1	0	0	0	732	1377	48	3	491	3	AP1G1	16	71779049	Missense_Mutation	SNP	G	TCGA-VN-A88L-01A-11D-A34U-08	876571	71779049	18575704	32	19555											
RASD1	51655	broad.mit.edu	37	chr17	17398953	17398953	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgagccgctgcacctcctcgAaggagtcgcggttgtccaga	7	8	13	13	4	0	2	0	1	0	1	4	4	2	3	4	2	2	3	4	2	1	1			TCGA-VN-A88L-01A-11D-A34U-08	TCGA-VN-A88L-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ee4cc9c-82a2-4d65-9b90-7263e4dc6164	46d69be0-f87a-48cd-8096-675fec8dea31	g.chr17:17398953A>G	ENST00000225688.3	-	2	543	c.332T>C	c.(331-333)tTc>tCc	p.F111S	RASD1_ENST00000579152.1_Intron	NM_001199989.1|NM_016084.4	NP_001186918.1|NP_057168.1	Q9Y272	RASD1_HUMAN	RAS, dexamethasone-induced 1	111					G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of transcription, DNA-templated (GO:0045892)|nitric oxide mediated signal transduction (GO:0007263)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			endometrium(1)|lung(2)|upper_aerodigestive_tract(1)	4						CACCTCCTCGAAGGAGTCGCG	0.592																																						ENST00000225688.3																			0				endometrium(1)|lung(2)|upper_aerodigestive_tract(1)	4						c.(331-333)tTc>tCc		RAS, dexamethasone-induced 1							26	24	25					17																	17398953		2203	4300	6503	SO:0001583	missense	51655				G-protein coupled receptor protein signaling pathway|small GTPase mediated signal transduction	nucleus|perinuclear region of cytoplasm|plasma membrane	GTP binding|GTPase activity	g.chr17:17398953A>G	AF069506	CCDS11185.1, CCDS58519.1	17p11.2	2014-05-09			ENSG00000108551	ENSG00000108551			15828	protein-coding gene	gene with protein product	"ras-related protein", "dexamethasone-induced ras-related protein 1", "activator of G protein signaling"	605550				10947988	Standard	NM_001199989		Approved	DEXRAS1, AGS1	uc002gri.3	Q9Y272	OTTHUMG00000059292	ENST00000225688.3:c.332T>C	17.37:g.17398953A>G	ENSP00000225688:p.Phe111Ser					RASD1_ENST00000579152.1_Intron	p.F111S	NM_001199989.1|NM_016084.4	NP_001186918.1|NP_057168.1	Q9Y272	RASD1_HUMAN			2	543	-			111					B2R709|B4DFF4|Q9NYB4	Missense_Mutation	SNP	ENST00000225688.3	37	c.332T>C	CCDS11185.1	.	.	.	.	.	.	.	.	.	.	A	25.9	4.682543	0.88542	.	.	ENSG00000108551	ENST00000225688	D	0.82526	-1.62	4.94	4.94	0.65067	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.94499	0.8229	H	0.98612	4.28	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.96291	0.9214	10	0.87932	D	0	.	13.7654	0.62992	1.0:0.0:0.0:0.0	.	111	Q9Y272	RASD1_HUMAN	S	111	ENSP00000225688:F111S	ENSP00000225688:F111S	F	-	2	0	RASD1	17339678	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.107000	0.94261	1.840000	0.53500	0.533000	0.62120	TTC		0.592	RASD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131668.1	NM_016084		3	28	0	0	0	1	0	3	28					G	17398953	A	G	17398953	3	3	401	1	0	0	0	0	1	0	0	0	13066	246	9	4	517	4	RASD1	17	17398953	Missense_Mutation	SNP	A	TCGA-VN-A88L-01A-11D-A34U-08		17398953	63796257	33	19556											
HOXB3	3213	broad.mit.edu	37	chr17	46627825	46627825	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggctgggcgccatagggggCgccccgttgtagtccaggtt	4	9	17	11	3	0	0	0	0	0	0	1	0	1	0	4	5	0	4	4	5	2	4			TCGA-VN-A88L-01A-11D-A34U-08	TCGA-VN-A88L-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ee4cc9c-82a2-4d65-9b90-7263e4dc6164	46d69be0-f87a-48cd-8096-675fec8dea31	g.chr17:46627825C>T	ENST00000470495.1	-	2	2614	c.1167G>A	c.(1165-1167)gcG>gcA	p.A389A	HOXB3_ENST00000311626.4_Silent_p.A389A|HOXB3_ENST00000485909.2_Silent_p.A257A|HOXB-AS1_ENST00000508688.1_RNA|HOXB3_ENST00000472863.1_Silent_p.A316A|HOXB-AS1_ENST00000502764.2_RNA|HOXB3_ENST00000490677.1_Silent_p.A255A|HOXB3_ENST00000476342.1_Silent_p.A389A|HOXB-AS1_ENST00000435312.1_RNA|HOXB3_ENST00000498678.1_Silent_p.A389A|HOXB-AS3_ENST00000465846.2_RNA|HOXB3_ENST00000460160.1_Silent_p.A257A|HOXB3_ENST00000489475.1_Silent_p.A316A			P14651	HXB3_HUMAN	homeobox B3	389					angiogenesis (GO:0001525)|anterior/posterior pattern specification (GO:0009952)|cartilage development (GO:0051216)|definitive hemopoiesis (GO:0060216)|embryonic skeletal system morphogenesis (GO:0048704)|face development (GO:0060324)|glossopharyngeal nerve morphogenesis (GO:0021615)|hematopoietic progenitor cell differentiation (GO:0002244)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of neurogenesis (GO:0050767)|rhombomere development (GO:0021546)|thyroid gland development (GO:0030878)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(16)|prostate(4)|upper_aerodigestive_tract(1)	30						CCATAGGGGGCGCCCCGTTGT	0.682											OREG0024516	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000470495.1																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(16)|prostate(4)|upper_aerodigestive_tract(1)	30						c.(1165-1167)gcG>gcA		homeobox B3							48	61	57					17																	46627825		2197	4295	6492	SO:0001819	synonymous_variant	3213				angiogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr17:46627825C>T		CCDS11528.1	17q21.32	2011-06-20	2005-12-22		ENSG00000120093	ENSG00000120093		"Homeoboxes / ANTP class : HOXL subclass"	5114	protein-coding gene	gene with protein product		142966	"homeo box B3"	HOX2, HOX2G		1973146, 1358459	Standard	XM_006721854		Approved		uc002ino.3	P14651	OTTHUMG00000159922	ENST00000470495.1:c.1167G>A	17.37:g.46627825C>T			OREG0024516	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	940	HOXB3_ENST00000490677.1_Silent_p.A255A|HOXB3_ENST00000489475.1_Silent_p.A316A|HOXB-AS1_ENST00000508688.1_RNA|HOXB-AS1_ENST00000502764.2_RNA|HOXB3_ENST00000311626.4_Silent_p.A389A|HOXB3_ENST00000485909.2_Silent_p.A257A|HOXB-AS1_ENST00000435312.1_RNA|HOXB3_ENST00000498678.1_Silent_p.A389A|HOXB3_ENST00000476342.1_Silent_p.A389A|HOXB3_ENST00000472863.1_Silent_p.A316A|HOXB-AS3_ENST00000465846.2_RNA|HOXB3_ENST00000460160.1_Silent_p.A257A	p.A389A			P14651	HXB3_HUMAN			2	2614	-			389					A8K567|B7Z5N8|B7Z5P8|B7ZAD0|D3DTV3|O95615|P17484	Silent	SNP	ENST00000470495.1	37	c.1167G>A	CCDS11528.1																																																																																				0.682	HOXB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358261.1			18	45	0	0	0	1	0	18	45					T	46627825	C	T	46627825	2	4	401	1	0	0	0	0	0	0	0	1	7302	755	27	1		1	HOXB3	17	46627825	Silent	SNP	C	TCGA-VN-A88L-01A-11D-A34U-08	29228872	46627825	34567385	34	19557											
MUC16	94025	broad.mit.edu	37	chr19	9069614	9069614	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gggctacttcctgatactgcGgaataaagagatgaatgtga	13	10	12	6	1	0	4	0	3	0	1	1	6	1	5	1	2	3	1	1	2	6	4	rs375728976		TCGA-VN-A88L-01A-11D-A34U-08	TCGA-VN-A88L-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ee4cc9c-82a2-4d65-9b90-7263e4dc6164	46d69be0-f87a-48cd-8096-675fec8dea31	g.chr19:9069614G>A	ENST00000397910.4	-	3	18035	c.17832C>T	c.(17830-17832)tcC>tcT	p.S5944S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	5946	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CTGATACTGCGGAATAAAGAG	0.512																																						ENST00000397910.4																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(17830-17832)tcC>tcT		mucin 16, cell surface associated		G		0,3912		0,0,1956	99	94	95		17832	-0.6	0	19		95	2,8276		0,2,4137	no	coding-synonymous	MUC16	NM_024690.2		0,2,6093	AA,AG,GG		0.0242,0.0,0.0164		5944/14508	9069614	2,12188	1956	4139	6095	SO:0001819	synonymous_variant	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9069614G>A	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.17832C>T	19.37:g.9069614G>A							p.S5944S	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			3	18035	-			5946			Thr-rich.		Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	c.17832C>T	CCDS54212.1																																																																																				0.512	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		7	66	0	0	0	1	0	7	66					A	9069614	G	A	9069614	2	1	401	1	0	0	0	0	0	0	0	1	9973	1103	39	2		2	MUC16	19	9069614	Silent	SNP	G	TCGA-VN-A88L-01A-11D-A34U-08		9069614	50059369	35	19558											
LAMA5	3911	broad.mit.edu	37	chr20	60887497	60887497	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcgctcacgcctgtcgtgtTcagccgcttgaggtccacat	5	10	12	14	4	2	1	2	1	0	0	4	1	3	1	3	2	1	3	3	2	0	2			TCGA-VN-A88L-01A-11D-A34U-08	TCGA-VN-A88L-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ee4cc9c-82a2-4d65-9b90-7263e4dc6164	46d69be0-f87a-48cd-8096-675fec8dea31	g.chr20:60887497T>G	ENST00000252999.3	-	68	9385	c.9319A>C	c.(9319-9321)Aac>Cac	p.N3107H		NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	3107	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				angiogenesis (GO:0001525)|branching involved in salivary gland morphogenesis (GO:0060445)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cell recognition (GO:0008037)|cilium assembly (GO:0042384)|cytoskeleton organization (GO:0007010)|embryo development (GO:0009790)|endothelial cell differentiation (GO:0045446)|establishment of protein localization to plasma membrane (GO:0090002)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|focal adhesion assembly (GO:0048041)|hair follicle development (GO:0001942)|integrin-mediated signaling pathway (GO:0007229)|lung development (GO:0030324)|morphogenesis of a polarized epithelium (GO:0001738)|morphogenesis of embryonic epithelium (GO:0016331)|muscle organ development (GO:0007517)|neural crest cell migration (GO:0001755)|odontogenesis of dentin-containing tooth (GO:0042475)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|regulation of embryonic development (GO:0045995)|substrate adhesion-dependent cell spreading (GO:0034446)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-11 complex (GO:0043260)|laminin-5 complex (GO:0005610)|nucleus (GO:0005634)	integrin binding (GO:0005178)|structural molecule activity (GO:0005198)			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)			CCTGTCGTGTTCAGCCGCTTG	0.692																																						ENST00000252999.3																			0				breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81						c.(9319-9321)Aac>Cac		laminin, alpha 5	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						39	35	37					20																	60887497		2189	4293	6482	SO:0001583	missense	3911				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding	g.chr20:60887497T>G	AF443072	CCDS33502.1	20q13.2-q13.3	2013-03-01			ENSG00000130702	ENSG00000130702		"Laminins"	6485	protein-coding gene	gene with protein product		601033				9271224	Standard	NM_005560		Approved		uc002ycq.3	O15230	OTTHUMG00000032908	ENST00000252999.3:c.9319A>C	20.37:g.60887497T>G	ENSP00000252999:p.Asn3107His						p.N3107H	NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		68	9385	-	Breast(26;1.57e-08)		3107			Laminin G-like 2.		Q8TDF8|Q8WZA7|Q9H1P1	Missense_Mutation	SNP	ENST00000252999.3	37	c.9319A>C	CCDS33502.1	.	.	.	.	.	.	.	.	.	.	t	20.6	4.017311	0.75161	.	.	ENSG00000130702	ENST00000252999	T	0.42131	0.98	4.26	4.26	0.50523	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (1);	0.276251	0.40144	N	0.001179	T	0.54822	0.1882	L	0.58101	1.795	0.80722	D	1	D	0.67145	0.996	P	0.59703	0.862	T	0.58042	-0.7706	10	0.54805	T	0.06	.	13.1986	0.59754	0.0:0.0:0.0:1.0	.	3107	O15230	LAMA5_HUMAN	H	3107	ENSP00000252999:N3107H	ENSP00000252999:N3107H	N	-	1	0	LAMA5	60320892	0.268000	0.24133	1.000000	0.80357	0.902000	0.53008	0.718000	0.25866	1.794000	0.52575	0.454000	0.30748	AAC		0.692	LAMA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080014.2	NM_005560		4	9	0	0	0	1	0	4	9					G	60887497	T	G	60887497	3	3	401	1	0	0	0	0	1	0	0	0	8609	1783	62	5	1820	5	LAMA5	20	60887497	Missense_Mutation	SNP	T	TCGA-VN-A88L-01A-11D-A34U-08		60887497	2138023	36	19559											
TNRC6B	23112	broad.mit.edu	37	chr22	40708548	40708548	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atggaaaggtatccaaaacaTtgaccctgaatctgacccct	14	9	7	11	0	1	3	0	3	1	0	2	4	2	4	4	2	1	1	4	2	5	2			TCGA-VN-A88L-01A-11D-A34U-08	TCGA-VN-A88L-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ee4cc9c-82a2-4d65-9b90-7263e4dc6164	46d69be0-f87a-48cd-8096-675fec8dea31	g.chr22:40708548T>G	ENST00000454349.2	+	18	4686	c.4475T>G	c.(4474-4476)aTt>aGt	p.I1492S	TNRC6B_ENST00000335727.9_Missense_Mutation_p.I1382S|TNRC6B_ENST00000301923.9_Missense_Mutation_p.I688S|TNRC6B_ENST00000402203.1_Missense_Mutation_p.I688S	NM_001162501.1	NP_001155973.1	Q9UPQ9	TNR6B_HUMAN	trinucleotide repeat containing 6B	1492	Silencing domain; interaction with CNOT1 and PAN3.				epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|innate immune response (GO:0045087)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|regulation of translation (GO:0006417)	cytosol (GO:0005829)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)	1						ATCCAAAACATTGACCCTGAA	0.448																																						ENST00000454349.2																			0				breast(1)	1						c.(4474-4476)aTt>aGt		trinucleotide repeat containing 6B							90	89	89					22																	40708548		2019	4199	6218	SO:0001583	missense	23112				gene silencing by RNA|regulation of translation	cytoplasmic mRNA processing body	nucleotide binding|RNA binding	g.chr22:40708548T>G	AB029016	CCDS46712.1, CCDS46713.1, CCDS54533.1	22q13	2006-08-22			ENSG00000100354	ENSG00000100354		"Trinucleotide (CAG) repeat containing"	29190	protein-coding gene	gene with protein product		610740					Standard	NM_015088		Approved	KIAA1093	uc011aor.2	Q9UPQ9	OTTHUMG00000151114	ENST00000454349.2:c.4475T>G	22.37:g.40708548T>G	ENSP00000401946:p.Ile1492Ser					TNRC6B_ENST00000402203.1_Missense_Mutation_p.I688S|TNRC6B_ENST00000335727.8_Missense_Mutation_p.I1382S|TNRC6B_ENST00000301923.9_Missense_Mutation_p.I688S	p.I1492S	NM_001162501.1	NP_001155973.1	Q9UPQ9	TNR6B_HUMAN			18	4686	+			1492					B0QY73|B0QY78|B4DGC0|Q5TH52|Q8TBX2	Missense_Mutation	SNP	ENST00000454349.2	37	c.4475T>G	CCDS54533.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	18.86|18.86	3.712923|3.712923	0.68730|0.68730	.|.	.|.	ENSG00000100354|ENSG00000100354	ENST00000301923;ENST00000402203;ENST00000454349;ENST00000400140;ENST00000335727|ENST00000446273	T;T;T;T|.	0.36520|.	1.25;1.25;2.46;2.49|.	5.16|5.16	4.13|4.13	0.48395|0.48395	.|.	0.167085|.	0.51477|.	D|.	0.000088|.	T|T	0.50069|0.50069	0.1594|0.1594	L|L	0.40543|0.40543	1.245|1.245	0.36433|0.36433	D|D	0.865052|0.865052	D;P;P;D|.	0.58970|.	0.978;0.808;0.879;0.984|.	D;B;B;D|.	0.69479|.	0.947;0.281;0.396;0.964|.	T|T	0.53443|0.53443	-0.8438|-0.8438	10|5	0.62326|.	D|.	0.03|.	-6.9396|-6.9396	10.7404|10.7404	0.46149|0.46149	0.0:0.0747:0.0:0.9253|0.0:0.0747:0.0:0.9253	.|.	1492;1382;1382;688|.	Q9UPQ9;A8MYY3;Q9UPQ9-1;Q9UPQ9-2|.	TNR6B_HUMAN;.;.;.|.	S|V	688;688;1492;1382;1382|1178	ENSP00000306759:I688S;ENSP00000384795:I688S;ENSP00000401946:I1492S;ENSP00000338371:I1382S|.	ENSP00000306759:I688S|.	I|L	+|+	2|1	0|2	TNRC6B|TNRC6B	39038494|39038494	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	5.064000|5.064000	0.64338|0.64338	0.816000|0.816000	0.34421|0.34421	0.533000|0.533000	0.62120|0.62120	ATT|TTG		0.448	TNRC6B-202	KNOWN	basic|CCDS	protein_coding	protein_coding				5	93	0	0	0	1	0	5	93					G	40708548	T	G	40708548	3	3	401	1	0	0	0	0	1	0	0	0	16338	1493	52	5	4666	5	TNRC6B	22	40708548	Missense_Mutation	SNP	T	TCGA-VN-A88L-01A-11D-A34U-08		40708548	10596018	37	19560											
LONRF3	79836	broad.mit.edu	37	chrX	118109397	118109399	+	In_Frame_Del	DEL	GCC	GCC	-																															gcccggcgggctgggcagcaGccgccgccgccgctgcgagt																										TCGA-VN-A88L-01A-11D-A34U-08	TCGA-VN-A88L-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ee4cc9c-82a2-4d65-9b90-7263e4dc6164	46d69be0-f87a-48cd-8096-675fec8dea31	g.chrX:118109397_118109399delGCC	ENST00000371628.3	+	1	685_687	c.654_656delGCC	c.(652-657)cagccg>cag	p.P222del	LONRF3_ENST00000304778.7_In_Frame_Del_p.P222del|LONRF3_ENST00000422289.2_5'Flank	NM_001031855.1	NP_001027026.1	Q496Y0	LONF3_HUMAN	LON peptidase N-terminal domain and ring finger 3	222							ATP-dependent peptidase activity (GO:0004176)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	36						CTGGGCAGCAGCCGCCGCCGCCG	0.744																																						ENST00000365713.2																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	36						c.(652-657)cag>ca		LON peptidase N-terminal domain and ring finger 3			,	39,2816		8,15,8,1254,293					,	-4	0.2			4	74,4741		6,36,26,1797,1111	no	coding,coding	LONRF3	NM_024778.4,NM_001031855.1	,	14,51,34,3051,1404	A1A1,A1R,A1,RR,R		1.5369,1.366,1.4733	,	,		113,7557				SO:0001651	inframe_deletion	79836				proteolysis		ATP-dependent peptidase activity|protein binding|zinc ion binding	g.chrX:118109397_118109399delGCC	AK026265	CCDS14575.1, CCDS35374.1, CCDS76014.1	Xq24	2013-01-09	2005-08-19	2005-08-19	ENSG00000175556	ENSG00000175556		"RING-type (C3HC4) zinc fingers"	21152	protein-coding gene	gene with protein product			"ring finger protein 127"	RNF127			Standard	XM_005262476		Approved	FLJ22612	uc004eqw.3	Q496Y0	OTTHUMG00000022262	ENST00000371628.3:c.654_656delGCC	X.37:g.118109406_118109408delGCC	ENSP00000360690:p.Pro222del					LONRF3_ENST00000371628.3_In_Frame_Del_p.QP218del|LONRF3_ENST00000304778.7_In_Frame_Del_p.QP218del	p.QP218del			Q496Y0	LONF3_HUMAN			1	817_819	+			218					Q5JPN6|Q8NB00|Q9H647	In_Frame_Del	DEL	ENST00000371628.3	37	c.654_656delGCC	CCDS35374.1																																																																																				0.744	LONRF3-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355124.2	NM_024778		3	5						3	5	---	---	---	---	-	118109399	GCC	-	118109397	7	5	401	1	0	1	0	1	0	0	0	0	8896	962	34	0	656	0	LONRF3	23	118109397	In_Frame_Del	DEL	GCC	TCGA-VN-A88L-01A-11D-A34U-08		118109397	37161163	38	19561											
GPR50	9248	broad.mit.edu	37	chrX	150349723	150349723	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attgcccaccctgtgtctgaCgacagtgacctccctgagtc	7	10	9	15	1	1	3	0	3	1	0	3	4	2	3	4	0	1	0	4	0	0	1			TCGA-VN-A88L-01A-11D-A34U-08	TCGA-VN-A88L-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ee4cc9c-82a2-4d65-9b90-7263e4dc6164	46d69be0-f87a-48cd-8096-675fec8dea31	g.chrX:150349723C>T	ENST00000218316.3	+	2	1737	c.1668C>T	c.(1666-1668)gaC>gaT	p.D556D	AF003625.3_ENST00000602313.1_lincRNA	NM_004224.3	NP_004215.2	Q13585	MTR1L_HUMAN	G protein-coupled receptor 50	556	Pro-rich.				cell-cell signaling (GO:0007267)|G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)|identical protein binding (GO:0042802)|melatonin receptor activity (GO:0008502)			breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	38	Acute lymphoblastic leukemia(192;6.56e-05)					CTGTGTCTGACGACAGTGACC	0.642													C|||	1	0.000264901	0	0	3775	,	,		14511	0		0	False		,,,				2504	0.001					ENST00000218316.3																			0				breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	38						c.(1666-1668)gaC>gaT		G protein-coupled receptor 50							62	68	66					X																	150349723		2156	4244	6400	SO:0001819	synonymous_variant	9248				cell-cell signaling	integral to plasma membrane	melatonin receptor activity	g.chrX:150349723C>T	U52219	CCDS44012.1	Xq28	2012-08-21			ENSG00000102195	ENSG00000102195		"GPCR / Class A : Orphans"	4506	protein-coding gene	gene with protein product		300207				9933574, 18400093	Standard	NM_004224		Approved	H9, Mel1c	uc010ntg.2	Q13585	OTTHUMG00000024166	ENST00000218316.3:c.1668C>T	X.37:g.150349723C>T							p.D556D	NM_004224.3	NP_004215.2	Q13585	MTR1L_HUMAN			2	1737	+	Acute lymphoblastic leukemia(192;6.56e-05)		556			Pro-rich.		Q0VGG3|Q3ZAR0	Silent	SNP	ENST00000218316.3	37	c.1668C>T	CCDS44012.1																																																																																				0.642	GPR50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060874.1	NM_004224		42	32	0	0	0	1	0	42	32					T	150349723	C	T	150349723	2	4	401	1	0	0	0	0	0	0	0	1	6697	535	19	1		1	GPR50	23	150349723	Silent	SNP	C	TCGA-VN-A88L-01A-11D-A34U-08	32240326	150349723	4920837	39	19562											
SSX2IP	117178	broad.mit.edu	37	chr1	85116179	85116179	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggcttcttttgcggctgcctCgagtgcactataagattgtc	6	14	11	10	2	1	1	0	0	1	1	3	2	1	1	1	2	3	3	1	2	2	6			TCGA-VN-A88M-01A-11D-A34U-08	TCGA-VN-A88M-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06941061-7bb1-4dce-9bf7-c107d90e0017	71c317f6-14a3-48e0-a4b2-d53d72060ff3	g.chr1:85116179C>T	ENST00000342203.3	-	13	1799	c.1536G>A	c.(1534-1536)tcG>tcA	p.S512S	SSX2IP_ENST00000437941.2_Silent_p.S485S|SSX2IP_ENST00000370612.4_Silent_p.S512S|SSX2IP_ENST00000605755.1_Silent_p.S485S|SSX2IP_ENST00000603677.1_Silent_p.S31S	NM_001166293.1|NM_001166294.1|NM_014021.3	NP_001159765.1|NP_001159766.1|NP_054740.3	Q9Y2D8	ADIP_HUMAN	synovial sarcoma, X breakpoint 2 interacting protein	512					cell adhesion (GO:0007155)|centrosome organization (GO:0051297)|regulation of cell motility (GO:2000145)|regulation of Rac protein signal transduction (GO:0035020)	cell leading edge (GO:0031252)|cell-cell adherens junction (GO:0005913)|centriolar satellite (GO:0034451)|nucleus (GO:0005634)|protein complex (GO:0043234)				endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|urinary_tract(1)	19				all cancers(265;0.0053)|Epithelial(280;0.0214)|OV - Ovarian serous cystadenocarcinoma(397;0.173)		GCGGCTGCCTCGAGTGCACTA	0.413																																						ENST00000437941.2																			0				endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|urinary_tract(1)	19						c.(1453-1455)tcG>tcA		synovial sarcoma, X breakpoint 2 interacting protein							171	185	180					1																	85116179		2203	4300	6503	SO:0001819	synonymous_variant	117178				cell adhesion	nucleus|protein complex		g.chr1:85116179C>T		CCDS699.1, CCDS53337.1	1p22.3	2008-02-05			ENSG00000117155	ENSG00000117155			16509	protein-coding gene	gene with protein product		608690					Standard	NM_014021		Approved		uc001dkj.3	Q9Y2D8	OTTHUMG00000009926	ENST00000342203.3:c.1536G>A	1.37:g.85116179C>T						SSX2IP_ENST00000370612.4_Silent_p.S512S|SSX2IP_ENST00000342203.3_Silent_p.S512S|SSX2IP_ENST00000605755.1_Silent_p.S485S|SSX2IP_ENST00000603677.1_Silent_p.S31S	p.S485S	NM_001166295.1|NM_001166417.1	NP_001159767.1|NP_001159889.1	Q9Y2D8	ADIP_HUMAN		all cancers(265;0.0053)|Epithelial(280;0.0214)|OV - Ovarian serous cystadenocarcinoma(397;0.173)	12	1807	-			512					A8K8W0|B4DFE3|D3DT13|J3KR02|Q6P2P8|Q6ULS1|Q7L168|Q9UIX0	Silent	SNP	ENST00000342203.3	37	c.1455G>A	CCDS699.1																																																																																				0.413	SSX2IP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027469.1	NM_014021		7	149	0	0	0	1	0	7	149					T	85116179	C	T	85116179	2	4	402	1	0	0	0	0	0	0	0	1	15203	871	31	2		2	SSX2IP	1	85116179	Silent	SNP	C	TCGA-VN-A88M-01A-11D-A34U-08		85116179	164134442	1	19563											
KCNA10	3744	broad.mit.edu	37	chr1	111060344	111060344	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcagccccttggagtggcGcgagagcttgaagatgcgga	8	7	16	10	3	0	3	0	1	0	2	0	6	0	5	2	3	4	2	2	3	1	2			TCGA-VN-A88M-01A-11D-A34U-08	TCGA-VN-A88M-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06941061-7bb1-4dce-9bf7-c107d90e0017	71c317f6-14a3-48e0-a4b2-d53d72060ff3	g.chr1:111060344G>A	ENST00000369771.2	-	1	1453	c.1066C>T	c.(1066-1068)Cgc>Tgc	p.R356C		NM_005549.2	NP_005540.1	Q16322	KCA10_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 10	356					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|intracellular cyclic nucleotide activated cation channel activity (GO:0005221)	p.R356C(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(3)|skin(1)|urinary_tract(1)	35		all_cancers(81;4.57e-06)|all_epithelial(167;1.52e-05)|all_lung(203;0.000152)|Lung NSC(277;0.000301)		Lung(183;0.0238)|all cancers(265;0.0874)|Colorectal(144;0.103)|Epithelial(280;0.116)|LUSC - Lung squamous cell carcinoma(189;0.134)	Dalfampridine(DB06637)	TTGGAGTGGCGCGAGAGCTTG	0.572																																						ENST00000369771.2																			1	Substitution - Missense(1)	p.R356C(1)	endometrium(1)	endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(3)|skin(1)|urinary_tract(1)	35						c.(1066-1068)Cgc>Tgc		potassium voltage-gated channel, shaker-related subfamily, member 10							114	109	111					1																	111060344		2203	4300	6503	SO:0001583	missense	3744					voltage-gated potassium channel complex	intracellular cyclic nucleotide activated cation channel activity|voltage-gated potassium channel activity	g.chr1:111060344G>A	U96110	CCDS826.1	1p13.1	2012-07-05			ENSG00000143105	ENSG00000143105		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6219	protein-coding gene	gene with protein product		602420				16382104	Standard	NM_005549		Approved	Kv1.8	uc001dzt.1	Q16322	OTTHUMG00000022785	ENST00000369771.2:c.1066C>T	1.37:g.111060344G>A	ENSP00000358786:p.Arg356Cys						p.R356C	NM_005549.2	NP_005540.1	Q16322	KCA10_HUMAN		Lung(183;0.0238)|all cancers(265;0.0874)|Colorectal(144;0.103)|Epithelial(280;0.116)|LUSC - Lung squamous cell carcinoma(189;0.134)	1	1453	-		all_cancers(81;4.57e-06)|all_epithelial(167;1.52e-05)|all_lung(203;0.000152)|Lung NSC(277;0.000301)	356						Missense_Mutation	SNP	ENST00000369771.2	37	c.1066C>T	CCDS826.1	.	.	.	.	.	.	.	.	.	.	G	16.83	3.231119	0.58777	.	.	ENSG00000143105	ENST00000369771	D	0.98684	-5.07	5.63	5.63	0.86233	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99554	0.9840	H	0.99074	4.42	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.97929	1.0319	10	0.87932	D	0	.	13.2979	0.60307	0.0:0.0:0.8416:0.1583	.	356	Q16322	KCA10_HUMAN	C	356	ENSP00000358786:R356C	ENSP00000358786:R356C	R	-	1	0	KCNA10	110861867	1.000000	0.71417	1.000000	0.80357	0.853000	0.48598	3.964000	0.56780	2.676000	0.91093	0.558000	0.71614	CGC		0.572	KCNA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059081.1	NM_005549		9	98	0	0	0	1	0	9	98					A	111060344	G	A	111060344	3	1	402	1	0	0	0	0	1	0	0	0	8002	1087	38	1	473	1	KCNA10	1	111060344	Missense_Mutation	SNP	G	TCGA-VN-A88M-01A-11D-A34U-08	25944165	111060344	138190277	2	19564											
PEAR1	375033	broad.mit.edu	37	chr1	156883723	156883723	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatgccaccatccgggacctGcccagcttgccagggggccc	6	6	12	17	1	0	0	0	0	0	0	1	1	1	1	7	3	4	1	7	3	1	2			TCGA-VN-A88M-01A-11D-A34U-08	TCGA-VN-A88M-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06941061-7bb1-4dce-9bf7-c107d90e0017	71c317f6-14a3-48e0-a4b2-d53d72060ff3	g.chr1:156883723G>T	ENST00000338302.3	+	23	3018	c.2793G>T	c.(2791-2793)ctG>ctT	p.L931L	PEAR1_ENST00000292357.7_Silent_p.L931L			Q5VY43	PEAR1_HUMAN	platelet endothelial aggregation receptor 1	931	Pro-rich.				recognition of apoptotic cell (GO:0043654)	integral component of membrane (GO:0016021)|phagocytic cup (GO:0001891)				breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(6)|lung(22)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)	43	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					TCCGGGACCTGCCCAGCTTGC	0.617																																						ENST00000338302.3																			0				breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(6)|lung(22)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)	43						c.(2791-2793)ctG>ctT		platelet endothelial aggregation receptor 1																																				SO:0001819	synonymous_variant	375033					integral to membrane		g.chr1:156883723G>T	AK098809	CCDS30892.1	1q23.1	2008-02-05	2007-10-25	2007-10-25	ENSG00000187800	ENSG00000187800			33631	protein-coding gene	gene with protein product		610278	"multiple EGF-like-domains 12"	MEGF12		15851471	Standard	NM_001080471		Approved	JEDI, FLJ00193	uc001fqj.1	Q5VY43	OTTHUMG00000041293	ENST00000338302.3:c.2793G>T	1.37:g.156883723G>T						PEAR1_ENST00000292357.7_Silent_p.L931L	p.L931L			Q5VY43	PEAR1_HUMAN			23	3018	+	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)		931			Pro-rich.		Q8TEK2	Silent	SNP	ENST00000338302.3	37	c.2793G>T	CCDS30892.1																																																																																				0.617	PEAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098937.2	NM_001080471		3	20	1	0	0.115264	1	0.118297	3	20					T	156883723	G	T	156883723	2	4	402	1	0	0	0	0	0	0	0	1	11712	1306	46	5		5	PEAR1	1	156883723	Silent	SNP	G	TCGA-VN-A88M-01A-11D-A34U-08	45823379	156883723	92366898	3	19565											
OR6Y1	391112	broad.mit.edu	37	chr1	158517850	158517850	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaccccagaagaatgaaacGtgttgtcactgtatgattat	15	11	8	7	1	1	4	1	2	0	2	1	4	1	4	2	0	2	2	2	0	6	3	rs562799207		TCGA-VN-A88M-01A-11D-A34U-08	TCGA-VN-A88M-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06941061-7bb1-4dce-9bf7-c107d90e0017	71c317f6-14a3-48e0-a4b2-d53d72060ff3	g.chr1:158517850G>A	ENST00000302617.3	-	1	45	c.46C>T	c.(46-48)Cgt>Tgt	p.R16C		NM_001005189.1	NP_001005189.1	Q8NGX8	OR6Y1_HUMAN	olfactory receptor, family 6, subfamily Y, member 1	16						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|kidney(1)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30	all_hematologic(112;0.0378)					AGAATGAAACGTGTTGTCACT	0.458													G|||	1	0.000199681	0	0	5008	,	,		19831	0		0	False		,,,				2504	0.001					ENST00000302617.3																			0				NS(1)|kidney(1)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30						c.(46-48)Cgt>Tgt		olfactory receptor, family 6, subfamily Y, member 1							67	66	67					1																	158517850		2191	4296	6487	SO:0001583	missense	391112				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158517850G>A	BK004192	CCDS30899.1	1q23.1	2012-08-09			ENSG00000197532	ENSG00000197532		"GPCR / Class A : Olfactory receptors"	14823	protein-coding gene	gene with protein product				OR6Y2			Standard	NM_001005189		Approved		uc010pil.2	Q8NGX8	OTTHUMG00000019629	ENST00000302617.3:c.46C>T	1.37:g.158517850G>A	ENSP00000304807:p.Arg16Cys						p.R16C	NM_001005189.1	NP_001005189.1	Q8NGX8	OR6Y1_HUMAN			1	45	-	all_hematologic(112;0.0378)		16					Q6IFS0	Missense_Mutation	SNP	ENST00000302617.3	37	c.46C>T	CCDS30899.1	.	.	.	.	.	.	.	.	.	.	G	9.429	1.085080	0.20390	.	.	ENSG00000197532	ENST00000302617	T	0.01092	5.35	4.65	-1.31	0.09230	.	0.526393	0.15840	N	0.242086	T	0.00210	0.0006	N	0.16368	0.405	0.19300	N	0.999972	P	0.40180	0.705	B	0.14023	0.01	T	0.51639	-0.8680	10	0.87932	D	0	.	4.2718	0.10791	0.5026:0.1806:0.3168:0.0	.	16	Q8NGX8	OR6Y1_HUMAN	C	16	ENSP00000304807:R16C	ENSP00000304807:R16C	R	-	1	0	OR6Y1	156784474	0.014000	0.17966	0.336000	0.25522	0.506000	0.33950	0.184000	0.16939	-0.024000	0.13941	-0.251000	0.11542	CGT		0.458	OR6Y1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051844.1	NM_001005189		17	38	0	0	0	1	0	17	38					A	158517850	G	A	158517850	3	1	402	1	0	0	0	0	1	0	0	0	11213	1145	40	1	933	1	OR6Y1	1	158517850	Missense_Mutation	SNP	G	TCGA-VN-A88M-01A-11D-A34U-08	1634127	158517850	90732771	4	19566											
NBAS	51594	broad.mit.edu	37	chr2	15534433	15534433	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agtgtttttaacaaatgaaaTtggtttctcgagtccatgtt	11	17	8	5	1	1	1	0	1	1	0	3	2	2	1	1	1	1	3	1	1	3	6	rs527958367		TCGA-VN-A88M-01A-11D-A34U-08	TCGA-VN-A88M-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06941061-7bb1-4dce-9bf7-c107d90e0017	71c317f6-14a3-48e0-a4b2-d53d72060ff3	g.chr2:15534433T>C	ENST00000281513.5	-	28	3200	c.3175A>G	c.(3175-3177)Att>Gtt	p.I1059V	NBAS_ENST00000441750.1_Missense_Mutation_p.I939V	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN	neuroblastoma amplified sequence	1059					negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:2000623)|nuclear-transcribed mRNA catabolic process (GO:0000956)	cytoplasm (GO:0005737)|membrane (GO:0016020)				NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						ACAAATGAAATTGGTTTCTCG	0.363																																						ENST00000281513.5																			0				NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						c.(3175-3177)Att>Gtt		neuroblastoma amplified sequence							72	70	71					2																	15534433		2203	4300	6503	SO:0001583	missense	51594							g.chr2:15534433T>C	BC051792	CCDS1685.1	2p24.3	2009-02-23			ENSG00000151779	ENSG00000151779			15625	protein-coding gene	gene with protein product		608025				9926938, 12706883	Standard	NM_015909		Approved	NAG	uc002rcc.2	A2RRP1	OTTHUMG00000121153	ENST00000281513.5:c.3175A>G	2.37:g.15534433T>C	ENSP00000281513:p.Ile1059Val					NBAS_ENST00000441750.1_Missense_Mutation_p.I939V	p.I1059V	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN			28	3200	-			1059					O95790|Q2VPJ7|Q53TK6|Q86V39|Q8NFY8|Q9Y3W5	Missense_Mutation	SNP	ENST00000281513.5	37	c.3175A>G	CCDS1685.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	2.025|2.025	-0.423829|-0.423829	0.04734|0.04734	.|.	.|.	ENSG00000151779|ENSG00000151779	ENST00000441750;ENST00000281513;ENST00000441755|ENST00000429842	T;T;T|.	0.15603|.	2.41;2.41;2.41|.	5.48|5.48	-4.71|-4.71	0.03279|0.03279	Secretory pathway Sec39 (1);|.	0.246536|.	0.46145|.	N|.	0.000319|.	T|T	0.33904|0.33904	0.0879|0.0879	N|N	0.19112|0.19112	0.55|0.55	0.29585|0.29585	N|N	0.848859|0.848859	B;B|.	0.22800|.	0.075;0.001|.	B;B|.	0.25140|.	0.058;0.009|.	T|T	0.30679|0.30679	-0.9970|-0.9970	10|5	0.87932|.	D|.	0|.	.|.	15.0394|15.0394	0.71777|0.71777	0.0:0.5855:0.0:0.4145|0.0:0.5855:0.0:0.4145	.|.	939;1059|.	A2RRP1-2;A2RRP1|.	.;NBAS_HUMAN|.	V|S	939;1059;106|156	ENSP00000413201:I939V;ENSP00000281513:I1059V;ENSP00000396501:I106V|.	ENSP00000281513:I1059V|.	I|N	-|-	1|2	0|0	NBAS|NBAS	15451884|15451884	0.027000|0.027000	0.19231|0.19231	0.043000|0.043000	0.18650|0.18650	0.878000|0.878000	0.50629|0.50629	0.157000|0.157000	0.16402|0.16402	-1.255000|-1.255000	0.02481|0.02481	-0.904000|-0.904000	0.02843|0.02843	ATT|AAT		0.363	NBAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241638.1	NM_015909		3	50	0	0	0	1	0	3	50					C	15534433	T	C	15534433	3	2	402	1	0	0	0	0	1	0	0	0	10186	1493	52	4	4040	4	NBAS	2	15534433	Missense_Mutation	SNP	T	TCGA-VN-A88M-01A-11D-A34U-08		15534433	227664940	5	19567											
LRP1B	53353	broad.mit.edu	37	chr2	141253252	141253252	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctacagggaaagcctgaagaGcattcatcaatgtctacaca	15	8	8	10	0	3	2	2	1	1	1	3	3	3	3	1	1	4	1	1	1	5	3			TCGA-VN-A88M-01A-11D-A34U-08	TCGA-VN-A88M-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06941061-7bb1-4dce-9bf7-c107d90e0017	71c317f6-14a3-48e0-a4b2-d53d72060ff3	g.chr2:141253252G>A	ENST00000389484.3	-	56	9887	c.8916C>T	c.(8914-8916)tgC>tgT	p.C2972C		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	2972	EGF-like 12; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		AGCCTGAAGAGCATTCATCAA	0.418										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	ENST00000389484.3																			0				NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606						c.(8914-8916)tgC>tgT		low density lipoprotein receptor-related protein 1B							157	141	146					2																	141253252		2203	4300	6503	SO:0001819	synonymous_variant	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141253252G>A	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"Low density lipoprotein receptors"	6693	protein-coding gene	gene with protein product	"LRP-deleted in tumors"	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.8916C>T	2.37:g.141253252G>A		TSP Lung(27;0.18)					p.C2972C	NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)	56	9887	-		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)	2972			EGF-like 7.		Q8WY29|Q8WY30|Q8WY31	Silent	SNP	ENST00000389484.3	37	c.8916C>T	CCDS2182.1																																																																																				0.418	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		9	46	0	0	0	1	0	9	46					A	141253252	G	A	141253252	2	1	402	1	0	0	0	0	0	0	0	1	8955	963	34	3		3	LRP1B	2	141253252	Silent	SNP	G	TCGA-VN-A88M-01A-11D-A34U-08	125718819	141253252	101946121	6	19568											
PPAT	5471	broad.mit.edu	37	chr4	57261635	57261635	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ataatatcgtgctttttctcTttctgttttttaaactttat	8	24	3	6	1	2	0	0	0	2	0	4	0	2	0	0	0	2	2	0	0	5	10			TCGA-VN-A88M-01A-11D-A34U-08	TCGA-VN-A88M-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06941061-7bb1-4dce-9bf7-c107d90e0017	71c317f6-14a3-48e0-a4b2-d53d72060ff3	g.chr4:57261635T>A	ENST00000264220.2	-	11	1574	c.1437A>T	c.(1435-1437)aaA>aaT	p.K479N	RP11-646I6.6_ENST00000602749.1_lincRNA	NM_002703.4	NP_002694.3	Q06203	PUR1_HUMAN	phosphoribosyl pyrophosphate amidotransferase	479					'de novo' IMP biosynthetic process (GO:0006189)|cellular response to drug (GO:0035690)|cellular response to insulin stimulus (GO:0032869)|G1/S transition of mitotic cell cycle (GO:0000082)|glutamine catabolic process (GO:0006543)|kidney development (GO:0001822)|lactation (GO:0007595)|maternal process involved in female pregnancy (GO:0060135)|nucleobase-containing small molecule metabolic process (GO:0055086)|nucleoside metabolic process (GO:0009116)|organ regeneration (GO:0031100)|protein homotetramerization (GO:0051289)|purine nucleobase biosynthetic process (GO:0009113)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide biosynthetic process (GO:0006164)|purine ribonucleoside monophosphate biosynthetic process (GO:0009168)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	4 iron, 4 sulfur cluster binding (GO:0051539)|amidophosphoribosyltransferase activity (GO:0004044)|metal ion binding (GO:0046872)			cervix(1)|endometrium(2)|large_intestine(6)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	20	Glioma(25;0.08)|all_neural(26;0.101)				Fluorouracil(DB00544)|L-Glutamine(DB00130)|Mercaptopurine(DB01033)	GCTTTTTCTCTTTCTGTTTTT	0.358																																						ENST00000264220.2																			0				cervix(1)|endometrium(2)|large_intestine(6)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	20						c.(1435-1437)aaA>aaT		phosphoribosyl pyrophosphate amidotransferase	L-Glutamine(DB00130)|Thioguanine(DB00352)						115	107	110					4																	57261635		2203	4300	6503	SO:0001583	missense	5471				glutamine metabolic process|nucleoside metabolic process|purine base biosynthetic process|purine ribonucleoside monophosphate biosynthetic process	cytosol	4 iron, 4 sulfur cluster binding|amidophosphoribosyltransferase activity|metal ion binding	g.chr4:57261635T>A		CCDS3505.1	4q12	2012-10-02			ENSG00000128059	ENSG00000128059	2.4.2.14		9238	protein-coding gene	gene with protein product		172450					Standard	NM_002703		Approved	GPAT, PRAT	uc003hbr.3	Q06203	OTTHUMG00000128842	ENST00000264220.2:c.1437A>T	4.37:g.57261635T>A	ENSP00000264220:p.Lys479Asn						p.K479N	NM_002703.4	NP_002694.3	Q06203	PUR1_HUMAN			11	1574	-	Glioma(25;0.08)|all_neural(26;0.101)		479						Missense_Mutation	SNP	ENST00000264220.2	37	c.1437A>T	CCDS3505.1	.	.	.	.	.	.	.	.	.	.	T	2.988	-0.208739	0.06140	.	.	ENSG00000128059	ENST00000264220	.	.	.	5.28	4.08	0.47627	.	0.565679	0.21244	N	0.077767	T	0.26955	0.0660	L	0.44542	1.39	0.27223	N	0.959602	B	0.06786	0.001	B	0.04013	0.001	T	0.18808	-1.0325	9	0.15952	T	0.53	-17.4283	1.63	0.02730	0.1307:0.1566:0.1534:0.5592	.	479	Q06203	PUR1_HUMAN	N	479	.	ENSP00000264220:K479N	K	-	3	2	PPAT	56956392	0.869000	0.29996	0.874000	0.34290	0.054000	0.15201	1.068000	0.30629	0.942000	0.37525	-0.297000	0.09499	AAA		0.358	PPAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250781.2	NM_002703		4	45	0	0	0	1	0	4	45					A	57261635	T	A	57261635	3	1	402	1	0	0	0	0	1	0	0	0	12302	1606	56	5	120	5	PPAT	4	57261635	Missense_Mutation	SNP	T	TCGA-VN-A88M-01A-11D-A34U-08		57261635	133892641	7	19569											
TRRAP	8295	broad.mit.edu	37	chr7	98513418	98513418	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aggaaccctacaactacttcTtgctgctacgggcgctgttt	8	12	9	12	2	1	0	0	0	1	0	1	1	1	1	1	2	7	4	1	2	5	6			TCGA-VN-A88M-01A-11D-A34U-08	TCGA-VN-A88M-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06941061-7bb1-4dce-9bf7-c107d90e0017	71c317f6-14a3-48e0-a4b2-d53d72060ff3	g.chr7:98513418T>C	ENST00000359863.4	+	19	2481	c.2272T>C	c.(2272-2274)Ttg>Ctg	p.L758L	TRRAP_ENST00000446306.3_Silent_p.L757L|TRRAP_ENST00000355540.3_Silent_p.L758L	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	758					chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone deubiquitination (GO:0016578)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|mitotic cell cycle checkpoint (GO:0007093)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PCAF complex (GO:0000125)|STAGA complex (GO:0030914)|Swr1 complex (GO:0000812)|transcription factor TFTC complex (GO:0033276)	phosphotransferase activity, alcohol group as acceptor (GO:0016773)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			CAACTACTTCTTGCTGCTACG	0.532																																						ENST00000359863.4																			0				NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176						c.(2272-2274)Ttg>Ctg		transformation/transcription domain-associated protein							163	143	149					7																	98513418		2203	4300	6503	SO:0001819	synonymous_variant	8295				histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity	g.chr7:98513418T>C	AF076974	CCDS5659.1, CCDS59066.1	7q21.2-q22.1	2010-06-22			ENSG00000196367	ENSG00000196367			12347	protein-coding gene	gene with protein product		603015				9708738, 9885574	Standard	NM_003496		Approved	TR-AP, PAF400, Tra1	uc003upp.3	Q9Y4A5	OTTHUMG00000150403	ENST00000359863.4:c.2272T>C	7.37:g.98513418T>C						TRRAP_ENST00000355540.3_Silent_p.L758L|TRRAP_ENST00000446306.3_Silent_p.L757L	p.L758L	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)		19	2481	+	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		758					A4D265|O75218|Q9Y631|Q9Y6H4	Silent	SNP	ENST00000359863.4	37	c.2272T>C	CCDS59066.1																																																																																				0.532	TRRAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317978.1	NM_003496		4	83	0	0	0	1	0	4	83					C	98513418	T	C	98513418	2	2	402	1	0	0	0	0	0	0	0	1	16598	1606	56	4		4	TRRAP	7	98513418	Silent	SNP	T	TCGA-VN-A88M-01A-11D-A34U-08		98513418	60625245	8	19570											
NUP205	23165	broad.mit.edu	37	chr7	135282924	135282924	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctctgtgtttctacgattccGtacaagagcttaccggagag	9	12	10	10	3	2	2	0	0	2	2	3	4	3	2	2	1	4	3	2	1	4	5	rs375295025		TCGA-VN-A88M-01A-11D-A34U-08	TCGA-VN-A88M-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06941061-7bb1-4dce-9bf7-c107d90e0017	71c317f6-14a3-48e0-a4b2-d53d72060ff3	g.chr7:135282924G>A	ENST00000285968.6	+	15	2269	c.2243G>A	c.(2242-2244)cGt>cAt	p.R748H	NUP205_ENST00000440390.2_3'UTR	NM_015135.2	NP_055950	Q92621	NU205_HUMAN	nucleoporin 205kDa	748					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|nucleocytoplasmic transport (GO:0006913)|protein import into nucleus, docking (GO:0000059)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)	structural constituent of nuclear pore (GO:0017056)			breast(4)|central_nervous_system(2)|endometrium(9)|kidney(7)|large_intestine(17)|liver(4)|lung(36)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	93						CTACGATTCCGTACAAGAGCT	0.428																																						ENST00000285968.6																			0				breast(4)|central_nervous_system(2)|endometrium(9)|kidney(7)|large_intestine(17)|liver(4)|lung(36)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	93						c.(2242-2244)cGt>cAt		nucleoporin 205kDa		G	HIS/ARG	0,4406		0,0,2203	159	164	162		2243	5.7	1	7		162	1,8599	1.2+/-3.3	0,1,4299	no	missense	NUP205	NM_015135.2	29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	748/2013	135282924	1,13005	2203	4300	6503	SO:0001583	missense	23165				carbohydrate metabolic process|glucose transport|mRNA transport|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding	g.chr7:135282924G>A	D86978	CCDS34759.1	7q31.32	2007-03-26	2004-01-06	2004-01-07	ENSG00000155561	ENSG00000155561			18658	protein-coding gene	gene with protein product		614352	"chromosome 7 open reading frame 14"	C7orf14		9039502, 9348540	Standard	NM_015135		Approved	KIAA0225	uc003vsw.3	Q92621	OTTHUMG00000155497	ENST00000285968.6:c.2243G>A	7.37:g.135282924G>A	ENSP00000285968:p.Arg748His					NUP205_ENST00000440390.2_3'UTR	p.R748H	NM_015135.2	NP_055950.1	Q92621	NU205_HUMAN			15	2269	+			748					A6H8X3|Q86YC1	Missense_Mutation	SNP	ENST00000285968.6	37	c.2243G>A	CCDS34759.1	.	.	.	.	.	.	.	.	.	.	G	14.29	2.490520	0.44249	0.0	1.16E-4	ENSG00000155561	ENST00000285968	T	0.32753	1.44	5.73	5.73	0.89815	.	0.098316	0.64402	D	0.000001	T	0.21387	0.0515	N	0.13098	0.295	0.80722	D	1	B	0.31655	0.334	B	0.24394	0.053	T	0.03473	-1.1033	10	0.40728	T	0.16	-22.9195	19.8824	0.96903	0.0:0.0:1.0:0.0	.	748	Q92621	NU205_HUMAN	H	748	ENSP00000285968:R748H	ENSP00000285968:R748H	R	+	2	0	NUP205	134933464	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	6.954000	0.76001	2.696000	0.92011	0.591000	0.81541	CGT		0.428	NUP205-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340358.1			5	181	0	0	0	1	0	5	181					A	135282924	G	A	135282924	3	1	402	1	0	0	0	0	1	0	0	0	10759	1145	40	1	2301	1	NUP205	7	135282924	Missense_Mutation	SNP	G	TCGA-VN-A88M-01A-11D-A34U-08	36769506	135282924	23855739	9	19571											
CNNM2	54805	broad.mit.edu	37	chr10	104678735	104678735	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ttgccccacatcattctcaaCcgccgcacctcgggcatcat	8	9	6	18	3	3	0	3	0	1	0	5	0	3	0	5	1	2	2	5	1	1	2			TCGA-VN-A88M-01A-11D-A34U-08	TCGA-VN-A88M-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06941061-7bb1-4dce-9bf7-c107d90e0017	71c317f6-14a3-48e0-a4b2-d53d72060ff3	g.chr10:104678735C>A	ENST00000369878.4	+	1	686	c.498C>A	c.(496-498)aaC>aaA	p.N166K	CNNM2_ENST00000433628.2_Missense_Mutation_p.N166K|CNNM2_ENST00000369875.3_Missense_Mutation_p.N166K	NM_017649.4	NP_060119.3	Q9H8M5	CNNM2_HUMAN	cyclin and CBS domain divalent metal cation transport mediator 2	166					magnesium ion homeostasis (GO:0010960)|magnesium ion transport (GO:0015693)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)	adenyl nucleotide binding (GO:0030554)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|urinary_tract(1)	19		Colorectal(252;0.103)|all_hematologic(284;0.152)|Breast(234;0.198)		Epithelial(162;7.89e-09)|all cancers(201;1.82e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)		TCATTCTCAACCGCCGCACCT	0.647																																						ENST00000369878.3																			0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|urinary_tract(1)	19						c.(496-498)aaC>aaA		cyclin M2							127	139	135					10																	104678735		2202	4298	6500	SO:0001583	missense	54805				ion transport	integral to membrane		g.chr10:104678735C>A	AF216962	CCDS7543.1, CCDS44474.1, CCDS44475.1	10q24.32	2014-08-08	2014-08-07		ENSG00000148842	ENSG00000148842			103	protein-coding gene	gene with protein product		607803	"cyclin M2"	ACDP2		21393841, 24699222	Standard	NM_017649		Approved		uc001kwm.3	Q9H8M5	OTTHUMG00000018976	ENST00000369878.4:c.498C>A	10.37:g.104678735C>A	ENSP00000358894:p.Asn166Lys					CNNM2_ENST00000433628.2_Missense_Mutation_p.N166K|CNNM2_ENST00000369875.3_Missense_Mutation_p.N166K	p.N166K	NM_017649.4	NP_060119.3	Q9H8M5	CNNM2_HUMAN		Epithelial(162;7.89e-09)|all cancers(201;1.82e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)	1	622	+		Colorectal(252;0.103)|all_hematologic(284;0.152)|Breast(234;0.198)	166					Q5T569|Q5T570|Q8WU59|Q9H952|Q9NRK5|Q9NXT4	Missense_Mutation	SNP	ENST00000369878.4	37	c.498C>A	CCDS44474.1	.	.	.	.	.	.	.	.	.	.	C	13.94	2.385709	0.42308	.	.	ENSG00000148842	ENST00000457502;ENST00000433628;ENST00000369875;ENST00000369878;ENST00000345419;ENST00000541201	T;T;T	0.74209	-0.65;-0.82;-0.64	4.81	1.83	0.25207	.	0.222873	0.44285	D	0.000479	T	0.52451	0.1735	N	0.14661	0.345	0.41248	D	0.986695	B;B;B	0.32467	0.372;0.255;0.029	B;B;B	0.27796	0.083;0.038;0.027	T	0.46898	-0.9158	10	0.40728	T	0.16	.	9.5732	0.39440	0.0:0.7569:0.0:0.2431	.	166;166;166	Q9H8M5-2;Q9H8M5;F5H1I3	.;CNNM2_HUMAN;.	K	166	ENSP00000392875:N166K;ENSP00000358891:N166K;ENSP00000358894:N166K	ENSP00000286899:N166K	N	+	3	2	CNNM2	104668725	1.000000	0.71417	1.000000	0.80357	0.865000	0.49528	0.808000	0.27154	0.423000	0.26033	0.561000	0.74099	AAC		0.647	CNNM2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050113.3	NM_017649		8	165	1	0	5.18039e-06	1	5.77244e-06	8	165					A	104678735	C	A	104678735	3	1	402	1	0	0	0	0	1	0	0	0	3613	506	18	5	500	5	CNNM2	10	104678735	Missense_Mutation	SNP	C	TCGA-VN-A88M-01A-11D-A34U-08		104678735	30856012	10	19572											
KNDC1	85442	broad.mit.edu	37	chr10	135024980	135024980	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atctacaggcggagcctctgCgtcctgcaggcctgggtgga	6	8	15	12	2	2	0	0	0	2	0	3	2	3	2	3	5	4	1	3	5	1	1	rs372197149		TCGA-VN-A88M-01A-11D-A34U-08	TCGA-VN-A88M-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06941061-7bb1-4dce-9bf7-c107d90e0017	71c317f6-14a3-48e0-a4b2-d53d72060ff3	g.chr10:135024980C>T	ENST00000304613.3	+	22	3984	c.3963C>T	c.(3961-3963)tgC>tgT	p.C1321C	KNDC1_ENST00000368572.2_Silent_p.C1323C			Q76NI1	VKIND_HUMAN	kinase non-catalytic C-lobe domain (KIND) containing 1	1321	N-terminal Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00135}.				cerebellar granule cell differentiation (GO:0021707)|positive regulation of protein phosphorylation (GO:0001934)|regulation of dendrite morphogenesis (GO:0048814)|small GTPase mediated signal transduction (GO:0007264)	dendrite (GO:0030425)|guanyl-nucleotide exchange factor complex (GO:0032045)|neuronal cell body (GO:0043025)	protein serine/threonine kinase activity (GO:0004674)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)			NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	60		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)		GGAGCCTCTGCGTCCTGCAGG	0.642																																						ENST00000304613.3																			0				NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	60						c.(3961-3963)tgC>tgT		kinase non-catalytic C-lobe domain (KIND) containing 1		C		0,4406		0,0,2203	71	72	71		3963	3	1	10		71	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	KNDC1	NM_152643.6		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		1321/1750	135024980	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	85442				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction			g.chr10:135024980C>T	AK074179	CCDS7674.1	10q26.3	2004-09-14	2004-04-07		ENSG00000171798	ENSG00000171798			29374	protein-coding gene	gene with protein product			"RasGEF domain family, member 2"	RASGEF2, C10orf23		11214970	Standard	NM_152643		Approved	KIAA1768, bB439H18.3, FLJ25027	uc001llz.1	Q76NI1	OTTHUMG00000019303	ENST00000304613.3:c.3963C>T	10.37:g.135024980C>T						KNDC1_ENST00000368572.2_Silent_p.C1323C	p.C1321C			Q76NI1	VKIND_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)	22	3984	+		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)	1321			N-terminal Ras-GEF.		B0QZC5|Q5T233|Q6ZNH8|Q8TEE5|Q96LV7|Q9C095	Silent	SNP	ENST00000304613.3	37	c.3963C>T	CCDS7674.1																																																																																				0.642	KNDC1-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000277044.3	NM_152643		27	45	0	0	0	1	0	27	45					T	135024980	C	T	135024980	2	4	402	1	0	0	0	0	0	0	0	1	8426	776	27	1		1	KNDC1	10	135024980	Silent	SNP	C	TCGA-VN-A88M-01A-11D-A34U-08	30346245	135024980	509767	11	19573											
GPR162	27239	broad.mit.edu	37	chr12	6934826	6934827	+	Frame_Shift_Ins	INS	-	-	A																															ggccatcatgtctgaggaggINSatggagatgacggtcagagg																										TCGA-VN-A88M-01A-11D-A34U-08	TCGA-VN-A88M-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06941061-7bb1-4dce-9bf7-c107d90e0017	71c317f6-14a3-48e0-a4b2-d53d72060ff3	g.chr12:6934826_6934827insA	ENST00000311268.3	+	3	1832_1833	c.1045_1046insA	c.(1045-1047)gatfs	p.D349fs	GPR162_ENST00000428545.2_Frame_Shift_Ins_p.D65fs|LEPREL2_ENST00000396725.2_RNA|LEPREL2_ENST00000251761.8_RNA|GPR162_ENST00000382315.3_Frame_Shift_Ins_p.D45fs|LEPREL2_ENST00000606935.1_RNA	NM_019858.1	NP_062832.1	Q16538	GP162_HUMAN	G protein-coupled receptor 162	349						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(2)|skin(1)	18						GTCTGAGGAGGATGGAGATGAC	0.609											OREG0021636	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000311268.3																			0				NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(2)|skin(1)	18						c.(1045-1047)tggfs		G protein-coupled receptor 162																																				SO:0001589	frameshift_variant	27239					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr12:6934826_6934827insA	U47928, U47929, U47924, U47925	CCDS8563.1, CCDS44819.1	12p13	2012-08-21						"GPCR / Class A : Orphans"	16693	protein-coding gene	gene with protein product						15777626	Standard	NM_014449		Approved	A-2, GRCA	uc001qqw.1	Q16538		ENST00000311268.3:c.1046dupA	12.37:g.6934827_6934827dupA	ENSP00000311528:p.Asp349fs		OREG0021636	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	637	GPR162_ENST00000382315.3_Frame_Shift_Ins_p.W45fs|GPR162_ENST00000428545.2_Frame_Shift_Ins_p.W65fs	p.W349fs	NM_019858.1	NP_062832.1	Q16538	GP162_HUMAN			3	1832_1833	+			349					Q16664|Q59EH5|Q66K56	Frame_Shift_Ins	INS	ENST00000311268.3	37	c.1045_1046insA	CCDS8563.1																																																																																				0.609	GPR162-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399478.1	NM_019858		2	4						2	4	---	---	---	---	A	6934827	-	A	6934826	7	5	402	1	0	1	1	0	0	0	0	0	6666	1174	41	0	1070	0	GPR162	12	6934826	Frame_Shift_Ins	INS	-	TCGA-VN-A88M-01A-11D-A34U-08		6934826	126917069	12	19574											
KCNH3	23416	broad.mit.edu	37	chr12	49934916	49934916	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gatcctgtaccggaagagcgGtgaggggccacctggccagc	8	5	16	12	2	0	2	0	1	0	1	1	4	1	3	5	5	3	1	5	5	2	1			TCGA-VN-A88M-01A-11D-A34U-08	TCGA-VN-A88M-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06941061-7bb1-4dce-9bf7-c107d90e0017	71c317f6-14a3-48e0-a4b2-d53d72060ff3	g.chr12:49934916G>T	ENST00000257981.6	+	2	570		c.e2+1		KCNH3_ENST00000550434.1_Splice_Site	NM_012284.1	NP_036416.1	Q9ULD8	KCNH3_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 3						potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)			NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	36						CGGAAGAGCGGTGAGGGGCCA	0.617																																						ENST00000257981.6																			0				NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	36						c.e2+1		potassium voltage-gated channel, subfamily H (eag-related), member 3							23	23	23					12																	49934916		2203	4300	6503	SO:0001630	splice_region_variant	23416				regulation of transcription, DNA-dependent	integral to membrane	two-component sensor activity|voltage-gated potassium channel activity	g.chr12:49934916G>T	AB022696	CCDS8786.1	12q13	2012-07-05				ENSG00000135519		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6252	protein-coding gene	gene with protein product		604527				10455180, 16382104	Standard	NM_012284		Approved	Kv12.2, BEC1, elk2	uc001ruh.1	Q9ULD8	OTTHUMG00000169517	ENST00000257981.6:c.310+1G>T	12.37:g.49934916G>T						KCNH3_ENST00000550434.1_Splice_Site		NM_012284.1	NP_036416.1	Q9ULD8	KCNH3_HUMAN			2	570	+								Q9UQ06	Splice_Site	SNP	ENST00000257981.6	37		CCDS8786.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.389970	0.82902	.	.	ENSG00000135519	ENST00000257981	.	.	.	5.05	5.05	0.67936	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.3036	0.82836	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	KCNH3	48221183	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.629000	0.98417	2.808000	0.96608	0.650000	0.86243	.		0.617	KCNH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404571.2	NM_012284	Intron	8	11	1	0	0.00307968	1	0.00333632	8	11					T	49934916	G	T	49934916	5	4	402	1	0	0	0	0	0	0	1	0	8033	1275	44	5	317	5	KCNH3	12	49934916	Splice_Site	SNP	G	TCGA-VN-A88M-01A-11D-A34U-08	43000090	49934916	83916979	13	19575											
CALCOCO1	57658	broad.mit.edu	37	chr12	54108441	54108441	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cacacgcagggctgaccgcaGctctgtcagctcccgcttac	7	7	10	17	3	2	1	1	1	1	0	3	1	3	1	2	1	3	6	2	1	1	1			TCGA-VN-A88M-01A-11D-A34U-08	TCGA-VN-A88M-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06941061-7bb1-4dce-9bf7-c107d90e0017	71c317f6-14a3-48e0-a4b2-d53d72060ff3	g.chr12:54108441G>T	ENST00000550804.1	-	11	1483	c.1423C>A	c.(1423-1425)Ctg>Atg	p.L475M	CALCOCO1_ENST00000430117.2_Missense_Mutation_p.L390M|CALCOCO1_ENST00000262059.4_Missense_Mutation_p.L475M|CALCOCO1_ENST00000548263.1_Missense_Mutation_p.L475M			Q9P1Z2	CACO1_HUMAN	calcium binding and coiled-coil domain 1	475					intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	armadillo repeat domain binding (GO:0070016)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein C-terminus binding (GO:0008022)|sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|transcription regulatory region DNA binding (GO:0044212)			NS(2)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	28						GCTGACCGCAGCTCTGTCAGC	0.562																																						ENST00000548263.1																			0				NS(2)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	28						c.(1423-1425)Ctg>Atg		calcium binding and coiled-coil domain 1							86	75	79					12																	54108441		2203	4300	6503	SO:0001583	missense	57658				steroid hormone receptor signaling pathway|transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm	armadillo repeat domain binding|beta-catenin binding|ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|sequence-specific DNA binding|transcription regulatory region DNA binding	g.chr12:54108441G>T	AL136895	CCDS8864.1, CCDS44908.1	12q13.13	2014-01-02			ENSG00000012822	ENSG00000012822			29306	protein-coding gene	gene with protein product	"coiled-coil leucine zipper coactivator 1", "inorganic pyrophosphatase activator"					10819331, 11230166	Standard	NM_020898		Approved	KIAA1536, calphoglin, Cocoa	uc001sef.3	Q9P1Z2	OTTHUMG00000170095	ENST00000550804.1:c.1423C>A	12.37:g.54108441G>T	ENSP00000449960:p.Leu475Met					CALCOCO1_ENST00000430117.2_Missense_Mutation_p.L390M|CALCOCO1_ENST00000262059.4_Missense_Mutation_p.L475M|CALCOCO1_ENST00000550804.1_Missense_Mutation_p.L475M	p.L475M			Q9P1Z2	CACO1_HUMAN			11	1471	-			475					B3KVA8|Q6FI59|Q71RC3|Q86WF8|Q96JU3|Q9H090	Missense_Mutation	SNP	ENST00000550804.1	37	c.1423C>A	CCDS8864.1	.	.	.	.	.	.	.	.	.	.	G	17.32	3.358817	0.61403	.	.	ENSG00000012822	ENST00000342760;ENST00000430117;ENST00000262059;ENST00000413257;ENST00000548263;ENST00000550804;ENST00000549935	T;T;T;T	0.21031	2.03;2.03;2.03;2.03	4.09	4.09	0.47781	.	0.000000	0.36134	N	0.002775	T	0.30823	0.0777	L	0.33668	1.02	0.46044	D	0.998838	D;D;D;D;D;D	0.76494	0.981;0.999;0.976;0.999;0.999;0.981	P;D;P;D;D;P	0.87578	0.832;0.998;0.741;0.997;0.998;0.832	T	0.00809	-1.1557	9	.	.	.	-10.3868	9.8807	0.41231	0.0977:0.0:0.9023:0.0	.	468;390;475;475;390;475	B4DG60;E9PAU0;Q9P1Z2-3;Q9P1Z2-2;E7EPK7;Q9P1Z2	.;.;.;.;.;CACO1_HUMAN	M	152;390;475;413;475;475;468	ENSP00000397189:L390M;ENSP00000262059:L475M;ENSP00000447647:L475M;ENSP00000449960:L475M	.	L	-	1	2	CALCOCO1	52394708	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	2.254000	0.43214	2.560000	0.86352	0.655000	0.94253	CTG		0.562	CALCOCO1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000407233.2	NM_020898		4	30	1	0	0.150653	1	0.150653	4	30					T	54108441	G	T	54108441	3	4	402	1	0	0	0	0	1	0	0	0	2577	962	34	5	672	5	CALCOCO1	12	54108441	Missense_Mutation	SNP	G	TCGA-VN-A88M-01A-11D-A34U-08	4173525	54108441	79743454	14	19576											
CHST11	50515	broad.mit.edu	37	chr12	105150943	105150943	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcatgatggtcctgaccgggCgggggaagtacagcgacccc	8	6	15	12	3	1	2	1	2	0	0	2	4	2	3	4	4	2	1	4	4	2	1			TCGA-VN-A88M-01A-11D-A34U-08	TCGA-VN-A88M-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06941061-7bb1-4dce-9bf7-c107d90e0017	71c317f6-14a3-48e0-a4b2-d53d72060ff3	g.chr12:105150943C>T	ENST00000303694.5	+	3	860	c.421C>T	c.(421-423)Cgg>Tgg	p.R141W	CHST11_ENST00000549260.1_Missense_Mutation_p.R136W	NM_018413.5	NP_060883.1	Q9NPF2	CHSTB_HUMAN	carbohydrate (chondroitin 4) sulfotransferase 11	141					carbohydrate biosynthetic process (GO:0016051)|carbohydrate metabolic process (GO:0005975)|chondrocyte development (GO:0002063)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|developmental growth (GO:0048589)|embryonic digit morphogenesis (GO:0042733)|embryonic viscerocranium morphogenesis (GO:0048703)|glycosaminoglycan metabolic process (GO:0030203)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|polysaccharide localization (GO:0033037)|post-anal tail morphogenesis (GO:0036342)|post-embryonic development (GO:0009791)|regulation of cell proliferation (GO:0042127)|respiratory gaseous exchange (GO:0007585)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	chondroitin 4-sulfotransferase activity (GO:0047756)|N-acetylgalactosamine 4-O-sulfotransferase activity (GO:0001537)|N-acetylgalactosamine 4-sulfate 6-O-sulfotransferase activity (GO:0050659)			breast(2)|endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(1)	18						CCTGACCGGGCGGGGGAAGTA	0.597																																						ENST00000303694.5																			0				breast(2)|endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(1)	18						c.(421-423)Cgg>Tgg		carbohydrate (chondroitin 4) sulfotransferase 11							65	66	65					12																	105150943		2203	4300	6503	SO:0001583	missense	50515				chondroitin sulfate biosynthetic process	Golgi membrane|integral to membrane	chondroitin 4-sulfotransferase activity|N-acetylgalactosamine 4-O-sulfotransferase activity	g.chr12:105150943C>T	AB042326	CCDS9099.1, CCDS55878.1	12q23.3	2008-02-05				ENSG00000171310	2.8.2.5	"Sulfotransferases, membrane-bound"	17422	protein-coding gene	gene with protein product		610128				10781601	Standard	NM_018413		Approved	C4ST1, C4St-1, C4ST, HSA269537	uc001tkz.3	Q9NPF2	OTTHUMG00000169803	ENST00000303694.5:c.421C>T	12.37:g.105150943C>T	ENSP00000305725:p.Arg141Trp					CHST11_ENST00000549260.1_Missense_Mutation_p.R136W	p.R141W	NM_018413.5	NP_060883.1	Q9NPF2	CHSTB_HUMAN			3	860	+			141					A8K4F8|Q9NXY6|Q9NY36	Missense_Mutation	SNP	ENST00000303694.5	37	c.421C>T	CCDS9099.1	.	.	.	.	.	.	.	.	.	.	C	19.64	3.864768	0.71949	.	.	ENSG00000171310	ENST00000549260;ENST00000303694;ENST00000549016	T;T;T	0.74421	-0.84;-0.84;-0.84	5.51	4.54	0.55810	.	0.000000	0.85682	D	0.000000	T	0.81088	0.4750	L	0.58669	1.825	0.80722	D	1	D;D	0.89917	1.0;1.0	P;D	0.63703	0.864;0.917	T	0.79860	-0.1625	10	0.40728	T	0.16	-11.4185	13.0884	0.59154	0.2781:0.7219:0.0:0.0	.	136;141	Q9NPF2-2;Q9NPF2	.;CHSTB_HUMAN	W	136;141;101	ENSP00000450004:R136W;ENSP00000305725:R141W;ENSP00000449095:R101W	ENSP00000305725:R141W	R	+	1	2	CHST11	103675073	0.936000	0.31750	0.997000	0.53966	0.998000	0.95712	2.011000	0.40922	2.600000	0.87896	0.655000	0.94253	CGG		0.597	CHST11-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000405960.2	NM_018413		6	51	0	0	0	1	0	6	51					T	105150943	C	T	105150943	3	4	402	1	0	0	0	0	1	0	0	0	3399	759	27	1	431	1	CHST11	12	105150943	Missense_Mutation	SNP	C	TCGA-VN-A88M-01A-11D-A34U-08	51042502	105150943	28700952	15	19577											
AHNAK2	113146	broad.mit.edu	37	chr14	105418827	105418827	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttggcagtcacgtccttgtcGgccagggacaggtccccctc	5	9	12	15	2	1	0	1	0	0	0	5	1	3	1	4	4	0	1	4	4	0	2	rs371134105		TCGA-VN-A88M-01A-11D-A34U-08	TCGA-VN-A88M-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06941061-7bb1-4dce-9bf7-c107d90e0017	71c317f6-14a3-48e0-a4b2-d53d72060ff3	g.chr14:105418827G>A	ENST00000333244.5	-	7	3080	c.2961C>T	c.(2959-2961)gcC>gcT	p.A987A	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	987						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			CGTCCTTGTCGGCCAGGGACA	0.617																																						ENST00000333244.5																			0				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33						c.(2959-2961)gcC>gcT		AHNAK nucleoprotein 2							229	257	248					14																	105418827		2036	4171	6207	SO:0001819	synonymous_variant	113146					nucleus		g.chr14:105418827G>A	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"chromosome 14 open reading frame 78"	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.2961C>T	14.37:g.105418827G>A						AHNAK2_ENST00000557457.1_Intron	p.A987A	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)		7	3080	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	987					Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Silent	SNP	ENST00000333244.5	37	c.2961C>T	CCDS45177.1																																																																																				0.617	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		8	519	0	0	0	1	0	8	519					A	105418827	G	A	105418827	2	1	402	1	0	0	0	0	0	0	0	1	415	1103	39	2		2	AHNAK2	14	105418827	Silent	SNP	G	TCGA-VN-A88M-01A-11D-A34U-08		105418827	1930713	16	19578											
TUSC5	286753	broad.mit.edu	37	chr17	1183349	1183349	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcacaggagccaggctccgcCgcattcctggacctgccgga	7	5	13	16	3	0	0	0	0	0	0	2	3	2	3	6	4	2	3	6	4	0	1	rs370772243		TCGA-VN-A88M-01A-11D-A34U-08	TCGA-VN-A88M-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06941061-7bb1-4dce-9bf7-c107d90e0017	71c317f6-14a3-48e0-a4b2-d53d72060ff3	g.chr17:1183349C>T	ENST00000333813.3	+	1	393	c.54C>T	c.(52-54)gcC>gcT	p.A18A		NM_172367.2	NP_758955.2	Q8IXB3	TUSC5_HUMAN	tumor suppressor candidate 5	18			A -> T (in dbSNP:rs111701043). {ECO:0000269|PubMed:12660825}.		response to biotic stimulus (GO:0009607)	integral component of membrane (GO:0016021)				endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|prostate(4)|skin(2)	15				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		CAGGCTCCGCCGCATTCCTGG	0.642																																						ENST00000333813.3																			0				endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|prostate(4)|skin(2)	15						c.(52-54)gcC>gcT		tumor suppressor candidate 5							46	51	50					17																	1183349		1972	4147	6119	SO:0001819	synonymous_variant	286753				response to biotic stimulus	integral to membrane		g.chr17:1183349C>T	AB090231	CCDS42225.1	17p13.3	2009-10-16			ENSG00000184811	ENSG00000184811			29592	protein-coding gene	gene with protein product	"located at seventeen p thirteen point three 1", "interferon induced transmembrane protein domain containing 3"	612211				12660825	Standard	NM_172367		Approved	LOST1, IFITMD3	uc002fsi.1	Q8IXB3	OTTHUMG00000132196	ENST00000333813.3:c.54C>T	17.37:g.1183349C>T							p.A18A	NM_172367.2	NP_758955.2	Q8IXB3	TUSC5_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)	1	393	+			18		A -> T.			A6NMK4	Silent	SNP	ENST00000333813.3	37	c.54C>T	CCDS42225.1																																																																																				0.642	TUSC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255249.1	NM_172367		9	65	0	0	0	1	0	9	65					T	1183349	C	T	1183349	2	4	402	1	0	0	0	0	0	0	0	1	16776	639	23	2		2	TUSC5	17	1183349	Silent	SNP	C	TCGA-VN-A88M-01A-11D-A34U-08		1183349	80011861	17	19579											
CDC27	996	broad.mit.edu	37	chr17	45219653	45219653	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ggtgtgattgtggatattttCccttctgaaatgatggaaga	10	15	12	4	0	1	4	0	3	1	1	2	6	2	6	1	3	0	0	1	3	3	5			TCGA-VN-A88M-01A-11D-A34U-08	TCGA-VN-A88M-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06941061-7bb1-4dce-9bf7-c107d90e0017	71c317f6-14a3-48e0-a4b2-d53d72060ff3	g.chr17:45219653C>T	ENST00000066544.3	-	11	1413	c.1320G>A	c.(1318-1320)ggG>ggA	p.G440G	CDC27_ENST00000531206.1_Silent_p.G446G|CDC27_ENST00000527547.1_Silent_p.G440G|CDC27_ENST00000446365.2_Silent_p.G379G	NM_001114091.1|NM_001256.3	NP_001107563.1|NP_001247.3	P30260	CDC27_HUMAN	cell division cycle 27	440					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell proliferation (GO:0008283)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cell cycle (GO:0000278)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	protein phosphatase binding (GO:0019903)			NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2)	90						TGGATATTTTCCCTTCTGAAA	0.313																																						ENST00000066544.3																			0				NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2)	90						c.(1318-1320)ggG>ggA		cell division cycle 27							28	28	28					17																	45219653		2201	4294	6495	SO:0001819	synonymous_variant	996				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule	protein phosphatase binding	g.chr17:45219653C>T	U00001	CCDS11509.1, CCDS45720.1, CCDS74090.1	17q21.32	2013-01-17	2013-01-17		ENSG00000004897	ENSG00000004897		"Anaphase promoting complex subunits", "Tetratricopeptide (TTC) repeat domain containing"	1728	protein-coding gene	gene with protein product	"anaphase promoting complex subunit 3"	116946	"cell division cycle 27", "cell division cycle 27 homolog (S. cerevisiae)"	D0S1430E, D17S978E		8234252	Standard	XM_005257892		Approved	APC3, ANAPC3, NUC2	uc002ile.4	P30260	OTTHUMG00000166429	ENST00000066544.3:c.1320G>A	17.37:g.45219653C>T						CDC27_ENST00000527547.1_Silent_p.G440G|CDC27_ENST00000531206.1_Silent_p.G446G|CDC27_ENST00000446365.2_Silent_p.G379G	p.G440G	NM_001114091.1|NM_001256.3	NP_001107563.1|NP_001247.3	P30260	CDC27_HUMAN			11	1413	-			440					G3V1C4|Q16349|Q96F35	Silent	SNP	ENST00000066544.3	37	c.1320G>A	CCDS11509.1																																																																																				0.313	CDC27-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389742.2			3	22	0	0	0	1	0	3	22					T	45219653	C	T	45219653	2	4	402	1	0	0	0	0	0	0	0	1	3066	842	30	3		3	CDC27	17	45219653	Silent	SNP	C	TCGA-VN-A88M-01A-11D-A34U-08	44036304	45219653	35975557	18	19580											
MED13	9969	broad.mit.edu	37	chr17	60033834	60033834	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctagcagaactttttttcCgacgagccctattgtgtgaa	9	15	8	9	2	1	2	0	1	1	1	2	4	2	2	2	0	3	1	2	0	4	7	rs377382016		TCGA-VN-A88M-01A-11D-A34U-08	TCGA-VN-A88M-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06941061-7bb1-4dce-9bf7-c107d90e0017	71c317f6-14a3-48e0-a4b2-d53d72060ff3	g.chr17:60033834C>T	ENST00000397786.2	-	24	5565	c.5489G>A	c.(5488-5490)cGg>cAg	p.R1830Q		NM_005121.2	NP_005112.2	Q9UHV7	MED13_HUMAN	mediator complex subunit 13	1830					androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|receptor activity (GO:0004872)|RNA polymerase II transcription cofactor activity (GO:0001104)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			breast(4)|central_nervous_system(1)|endometrium(10)|kidney(24)|large_intestine(15)|liver(1)|lung(20)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						ACTTTTTTTCCGACGAGCCCT	0.358																																						ENST00000397786.2																			0				breast(4)|central_nervous_system(1)|endometrium(10)|kidney(24)|large_intestine(15)|liver(1)|lung(20)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						c.(5488-5490)cGg>cAg		mediator complex subunit 13		C	GLN/ARG	0,3588		0,0,1794	77	70	72		5489	5.5	1	17		72	1,8145		0,1,4072	no	missense	MED13	NM_005121.2	43	0,1,5866	TT,TC,CC		0.0123,0.0,0.0085	benign	1830/2175	60033834	1,11733	1794	4073	5867	SO:0001583	missense	9969				androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	g.chr17:60033834C>T	AB011165	CCDS42366.1	17q22-q23	2007-07-30	2007-07-30	2007-07-30		ENSG00000108510			22474	protein-coding gene	gene with protein product		603808	"thyroid hormone receptor associated protein 1"	THRAP1		1019863	Standard	NM_005121		Approved	KIAA0593, TRAP240	uc002izo.3	Q9UHV7		ENST00000397786.2:c.5489G>A	17.37:g.60033834C>T	ENSP00000380888:p.Arg1830Gln						p.R1830Q	NM_005121.2	NP_005112.2	Q9UHV7	MED13_HUMAN			24	5565	-			1830					B2RU05|O60334	Missense_Mutation	SNP	ENST00000397786.2	37	c.5489G>A	CCDS42366.1	.	.	.	.	.	.	.	.	.	.	C	36	5.708860	0.96821	0.0	1.23E-4	ENSG00000108510	ENST00000397786;ENST00000262436	D	0.83673	-1.75	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	D	0.91085	0.7194	M	0.74647	2.275	0.80722	D	1	D	0.71674	0.998	D	0.79108	0.992	D	0.91110	0.4921	10	0.54805	T	0.06	-9.6759	19.2908	0.94098	0.0:1.0:0.0:0.0	.	1830	Q9UHV7	MED13_HUMAN	Q	1830;1829	ENSP00000380888:R1830Q	ENSP00000262436:R1829Q	R	-	2	0	MED13	57388616	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.449000	0.80643	2.554000	0.86153	0.655000	0.94253	CGG		0.358	MED13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445461.1	NM_005121		23	64	0	0	0	1	0	23	64					T	60033834	C	T	60033834	3	4	402	1	0	0	0	0	1	0	0	0	9430	652	23	2	1063	2	MED13	17	60033834	Missense_Mutation	SNP	C	TCGA-VN-A88M-01A-11D-A34U-08	14814181	60033834	21161376	19	19581											
RNF213	57674	broad.mit.edu	37	chr17	78337016	78337016	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctaccagcgtttcagaagcCgtctgcagaacttttccaga	10	10	8	13	2	2	3	1	0	1	3	3	3	3	3	4	0	5	2	4	0	3	4			TCGA-VN-A88M-01A-11D-A34U-08	TCGA-VN-A88M-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06941061-7bb1-4dce-9bf7-c107d90e0017	71c317f6-14a3-48e0-a4b2-d53d72060ff3	g.chr17:78337016C>T	ENST00000582970.1	+	40	11613	c.11470C>T	c.(11470-11472)Cgt>Tgt	p.R3824C	CTD-2047H16.4_ENST00000575034.1_RNA|RNF213_ENST00000336301.6_Missense_Mutation_p.R1897C|CTD-2047H16.4_ENST00000572151.1_RNA|RNF213_ENST00000508628.2_Missense_Mutation_p.R3873C	NM_001256071.1	NP_001243000.1	Q63HN8	RN213_HUMAN	ring finger protein 213	3824					ATP catabolic process (GO:0006200)|protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATPase activity (GO:0016887)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			TTTCAGAAGCCGTCTGCAGAA	0.552																																						ENST00000582970.1																			0				NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130						c.(11470-11472)Cgt>Tgt		ring finger protein 213							101	95	97					17																	78337016		2203	4300	6503	SO:0001583	missense	57674							g.chr17:78337016C>T	AK074030	CCDS58606.1	17q25.3	2013-01-09	2007-02-08	2007-02-08		ENSG00000173821		"RING-type (C3HC4) zinc fingers"	14539	protein-coding gene	gene with protein product		613768	"chromosome 17 open reading frame 27", "KIAA1618", "moyamoya disease 2", "Moyamoya disease 2"	C17orf27, KIAA1618, MYMY2		10997877, 21048783, 21799892	Standard	NM_020954		Approved	KIAA1554, NET57	uc021uen.2	Q63HN8		ENST00000582970.1:c.11470C>T	17.37:g.78337016C>T	ENSP00000464087:p.Arg3824Cys					RNF213_ENST00000508628.2_Missense_Mutation_p.R3873C|CTD-2047H16.4_ENST00000575034.1_RNA|RNF213_ENST00000336301.6_Missense_Mutation_p.R1897C|CTD-2047H16.4_ENST00000572151.1_RNA	p.R3824C	NM_001256071.1	NP_001243000.1	Q9HCF4	ALO17_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)		40	11613	+	all_neural(118;0.0538)		0					C9JCP4|D6RI12|F8WKS1|Q658P6|Q69YK7|Q6MZR1|Q8IWF4|Q8IZX1|Q8IZX2|Q8N406|Q8TEU0|Q9H6C9|Q9H6H9|Q9H6P3|Q9H8A9|Q9HCF4|Q9HCL8	Missense_Mutation	SNP	ENST00000582970.1	37	c.11470C>T	CCDS58606.1	.	.	.	.	.	.	.	.	.	.	C	24.1	4.494786	0.85069	.	.	ENSG00000173821	ENST00000508628;ENST00000411702;ENST00000336301	T	0.27557	1.66	5.59	5.59	0.84812	.	0.062549	0.64402	D	0.000002	T	0.57710	0.2072	M	0.81239	2.535	0.49582	D	0.999805	D;D	0.89917	1.0;0.998	D;P	0.97110	1.0;0.882	T	0.60342	-0.7282	10	0.56958	D	0.05	.	14.4261	0.67218	0.1475:0.8525:0.0:0.0	.	3873;1897	C9JCP4;Q63HN8	.;RN213_HUMAN	C	3824;3873;1897	ENSP00000338218:R1897C	ENSP00000338218:R1897C	R	+	1	0	RNF213	75951611	1.000000	0.71417	0.990000	0.47175	0.776000	0.43924	5.436000	0.66538	2.623000	0.88846	0.655000	0.94253	CGT		0.552	RNF213-020	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000443298.1	NM_020914		24	46	0	0	0	1	0	24	46					T	78337016	C	T	78337016	3	4	402	1	0	0	0	0	1	0	0	0	13477	652	23	2	11943	2	RNF213	17	78337016	Missense_Mutation	SNP	C	TCGA-VN-A88M-01A-11D-A34U-08	18303182	78337016	2858194	20	19582											
LAMA3	3909	broad.mit.edu	37	chr18	21484015	21484015	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaggaggcagaaaagcacgCgcggtccttacaagagctgg	12	4	16	9	3	0	2	0	0	0	2	1	4	1	4	1	5	3	3	1	5	4	1			TCGA-VN-A88M-01A-11D-A34U-08	TCGA-VN-A88M-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06941061-7bb1-4dce-9bf7-c107d90e0017	71c317f6-14a3-48e0-a4b2-d53d72060ff3	g.chr18:21484015C>T	ENST00000313654.9	+	50	6678	c.6437C>T	c.(6436-6438)gCg>gTg	p.A2146V	LAMA3_ENST00000588770.1_3'UTR|LAMA3_ENST00000587184.1_Missense_Mutation_p.A481V|LAMA3_ENST00000399516.3_Missense_Mutation_p.A2090V|LAMA3_ENST00000269217.6_Missense_Mutation_p.A537V	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	2146	Domain II and I.				cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-5 complex (GO:0005610)	structural molecule activity (GO:0005198)			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)					GAAAAGCACGCGCGGTCCTTA	0.522																																						ENST00000313654.9																			0				NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128						c.(6436-6438)gCg>gTg		laminin, alpha 3	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						85	86	86					18																	21484015		2203	4300	6503	SO:0001583	missense	3909				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	g.chr18:21484015C>T	L34155	CCDS11880.1, CCDS42419.1, CCDS45838.1, CCDS59307.1	18q11.2	2013-03-01	2002-08-29		ENSG00000053747	ENSG00000053747		"Laminins"	6483	protein-coding gene	gene with protein product		600805	"laminin, alpha 3 (nicein (150kD), kalinin (165kD), BM600 (150kD), epilegrin)"	LAMNA		8077230	Standard	NM_000227		Approved	nicein-150kDa, kalinin-165kDa, BM600-150kDa, epiligrin	uc002kuq.3	Q16787	OTTHUMG00000131874	ENST00000313654.9:c.6437C>T	18.37:g.21484015C>T	ENSP00000324532:p.Ala2146Val					LAMA3_ENST00000588770.1_3'UTR|LAMA3_ENST00000399516.3_Missense_Mutation_p.A2090V|LAMA3_ENST00000587184.1_Missense_Mutation_p.A481V|LAMA3_ENST00000269217.6_Missense_Mutation_p.A537V	p.A2146V	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN			50	6678	+	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)		2146			Domain II and I.		B0YJ33|Q13679|Q13680|Q6VU67|Q6VU68|Q6VU69|Q76E14|Q96TG0	Missense_Mutation	SNP	ENST00000313654.9	37	c.6437C>T	CCDS42419.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.093482	0.76756	.	.	ENSG00000053747	ENST00000313654;ENST00000399516;ENST00000269217	T;T;T	0.78246	1.25;-1.16;1.85	6.11	6.11	0.99139	.	.	.	.	.	D	0.88209	0.6375	M	0.81497	2.545	0.80722	D	1	D;D;D;D	0.76494	0.991;0.993;0.999;0.998	P;P;P;P	0.60415	0.454;0.536;0.874;0.802	D	0.88382	0.3002	9	0.87932	D	0	.	20.7342	0.99715	0.0:1.0:0.0:0.0	.	481;537;2090;2146	Q6VU69;B0YJ33;Q6VU67;Q16787	.;.;.;LAMA3_HUMAN	V	2146;2090;537	ENSP00000324532:A2146V;ENSP00000382432:A2090V;ENSP00000269217:A537V	ENSP00000269217:A537V	A	+	2	0	LAMA3	19738013	1.000000	0.71417	0.083000	0.20561	0.156000	0.22039	4.808000	0.62583	2.906000	0.99361	0.655000	0.94253	GCG		0.522	LAMA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254824.3	NM_000227, NM_198129		7	88	0	0	0	1	0	7	88					T	21484015	C	T	21484015	3	4	402	1	0	0	0	0	1	0	0	0	8607	768	27	1	6810	1	LAMA3	18	21484015	Missense_Mutation	SNP	C	TCGA-VN-A88M-01A-11D-A34U-08		21484015	56593233	21	19583											
ZNF700	90592	broad.mit.edu	37	chr19	12060807	12060807	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtaaggaatgcgaaaaagcAttctgtaaattctcttcttt	13	15	7	6	1	3	0	0	0	3	0	4	2	3	1	0	1	2	3	0	1	6	6			TCGA-VN-A88M-01A-11D-A34U-08	TCGA-VN-A88M-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06941061-7bb1-4dce-9bf7-c107d90e0017	71c317f6-14a3-48e0-a4b2-d53d72060ff3	g.chr19:12060807A>G	ENST00000254321.5	+	4	2111	c.1968A>G	c.(1966-1968)gcA>gcG	p.A656A	ZNF700_ENST00000482090.1_Silent_p.A638A|ZNF763_ENST00000538752.1_Intron|ZNF763_ENST00000590798.1_Intron|CTD-2006C1.12_ENST00000586394.1_RNA|ZNF763_ENST00000591944.1_Intron	NM_001271848.1|NM_144566.1	NP_001258777.1|NP_653167.1	Q9H0M5	ZN700_HUMAN	zinc finger protein 700	656					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)		ZNF700/MAST1_ENST00000251472(2)	breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|pancreas(1)|prostate(1)|urinary_tract(1)	33						GCGAAAAAGCATTCTGTAAAT	0.418																																						ENST00000482090.1																		ZNF700/MAST1_ENST00000251472(2)	0				breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|pancreas(1)|prostate(1)|urinary_tract(1)	33						c.(1912-1914)gcA>gcG		zinc finger protein 700							61	60	61					19																	12060807		2203	4300	6503	SO:0001819	synonymous_variant	90592				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12060807A>G	AL136732	CCDS32915.1, CCDS74289.1	19p13.2	2013-01-08			ENSG00000196757	ENSG00000196757		"Zinc fingers, C2H2-type", "-"	25292	protein-coding gene	gene with protein product							Standard	NM_144566		Approved	DKFZp434I1610	uc031rjk.1	Q9H0M5	OTTHUMG00000156421	ENST00000254321.5:c.1968A>G	19.37:g.12060807A>G						ZNF763_ENST00000590798.1_Intron|CTD-2006C1.12_ENST00000586394.1_RNA|ZNF763_ENST00000538752.1_Intron|ZNF763_ENST00000591944.1_Intron|ZNF700_ENST00000254321.5_Silent_p.A656A	p.A638A			Q9H0M5	ZN700_HUMAN			3	2332	+			656					B9EGU4	Silent	SNP	ENST00000254321.5	37	c.1914A>G	CCDS32915.1																																																																																				0.418	ZNF700-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344126.2	NM_144566		6	63	0	0	0	1	0	6	63					G	12060807	A	G	12060807	2	3	402	1	0	0	0	0	0	0	0	1	18101	204	8	4		4	ZNF700	19	12060807	Silent	SNP	A	TCGA-VN-A88M-01A-11D-A34U-08		12060807	47068176	22	19584											
ZNF763	284390	broad.mit.edu	37	chr19	12089838	12089838	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ggacccactctgcgaaaaaaCcttatgaatgtaagcagtgt	14	9	9	9	1	1	1	0	1	1	0	1	3	1	2	2	1	3	2	2	1	6	2			TCGA-VN-A88M-01A-11D-A34U-08	TCGA-VN-A88M-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06941061-7bb1-4dce-9bf7-c107d90e0017	71c317f6-14a3-48e0-a4b2-d53d72060ff3	g.chr19:12089838C>T	ENST00000358987.3	+	4	1226	c.1099C>T	c.(1099-1101)Cct>Tct	p.P367S	ZNF763_ENST00000545530.1_Missense_Mutation_p.P245S|ZNF763_ENST00000538752.1_Missense_Mutation_p.P387S|ZNF763_ENST00000590798.1_Missense_Mutation_p.P387S|ZNF763_ENST00000343949.5_Missense_Mutation_p.P370S			Q0D2J5	ZN763_HUMAN	zinc finger protein 763	367					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)	15						TGCGAAAAAACCTTATGAATG	0.398																																						ENST00000343949.5																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)	15						c.(1108-1110)Cct>Tct		zinc finger protein 763							88	95	92					19																	12089838		2177	4284	6461	SO:0001583	missense	284390							g.chr19:12089838C>T	AK092240	CCDS45982.1	19p13.2	2014-02-12	2006-08-14		ENSG00000197054	ENSG00000197054		"Zinc fingers, C2H2-type", "-"	27614	protein-coding gene	gene with protein product							Standard	NM_001012753		Approved	ZNF440L		Q0D2J5	OTTHUMG00000156430	ENST00000358987.3:c.1099C>T	19.37:g.12089838C>T	ENSP00000402017:p.Pro367Ser					ZNF763_ENST00000590798.1_Missense_Mutation_p.P387S|ZNF763_ENST00000545530.1_Missense_Mutation_p.P245S|ZNF763_ENST00000538752.1_Missense_Mutation_p.P387S|ZNF763_ENST00000358987.3_Missense_Mutation_p.P367S	p.P370S	NM_001012753.1	NP_001012771.1					4	1263	+								B3KRU3|B4DRE7	Missense_Mutation	SNP	ENST00000358987.3	37	c.1108C>T		.	.	.	.	.	.	.	.	.	.	c	11.92	1.783427	0.31593	.	.	ENSG00000197054	ENST00000538752;ENST00000343949;ENST00000545530;ENST00000358987	T;T;T;T	0.28454	1.61;1.61;1.61;1.61	1.41	0.239	0.15484	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.48926	0.1527	M	0.69523	2.12	0.24045	N	0.996062	D;D;P	0.89917	0.994;1.0;0.952	D;D;P	0.87578	0.974;0.998;0.66	T	0.31138	-0.9954	9	0.87932	D	0	.	6.8758	0.24147	0.0:0.8324:0.0:0.1676	.	387;367;370	F5H0A9;Q0D2J5;Q0D2J5-2	.;ZN763_HUMAN;.	S	387;370;245;367	ENSP00000438117:P387S;ENSP00000369774:P370S;ENSP00000446166:P245S;ENSP00000402017:P367S	ENSP00000369774:P370S	P	+	1	0	ZNF763	11950838	0.000000	0.05858	0.001000	0.08648	0.003000	0.03518	0.701000	0.25616	-0.068000	0.12953	-1.054000	0.02325	CCT		0.398	ZNF763-002	KNOWN	basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000344158.1	NM_001012753		52	81	0	0	0	1	0	52	81					T	12089838	C	T	12089838	3	4	402	1	0	0	0	0	1	0	0	0	18134	507	18	3	1122	3	ZNF763	19	12089838	Missense_Mutation	SNP	C	TCGA-VN-A88M-01A-11D-A34U-08	29031	12089838	47039145	23	19585											
SLC5A5	6528	broad.mit.edu	37	chr19	17993012	17993012	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	agccctgtcctcactgctcgGaggaggtgtccttcaggtga	6	10	13	12	1	2	1	2	1	0	0	5	3	4	3	3	4	2	1	3	4	0	1			TCGA-VN-A88M-01A-11D-A34U-08	TCGA-VN-A88M-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06941061-7bb1-4dce-9bf7-c107d90e0017	71c317f6-14a3-48e0-a4b2-d53d72060ff3	g.chr19:17993012G>A	ENST00000222248.3	+	10	1573	c.1226G>A	c.(1225-1227)gGa>gAa	p.G409E		NM_000453.2	NP_000444.1	Q92911	SC5A5_HUMAN	solute carrier family 5 (sodium/iodide cotransporter), member 5	409					cellular nitrogen compound metabolic process (GO:0034641)|cellular response to cAMP (GO:0071320)|cellular response to gonadotropin stimulus (GO:0071371)|iodide transport (GO:0015705)|ion transport (GO:0006811)|small molecule metabolic process (GO:0044281)|thyroid hormone generation (GO:0006590)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	iodide transmembrane transporter activity (GO:0015111)|sodium:iodide symporter activity (GO:0008507)			NS(2)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|skin(3)	31						TCACTGCTCGGAGGAGGTGTC	0.617																																					Melanoma(65;1008 1708 7910 46650)	ENST00000222248.3																			0				NS(2)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|skin(3)	31						c.(1225-1227)gGa>gAa		solute carrier family 5 (sodium/iodide cotransporter), member 5							87	69	75					19																	17993012		2203	4300	6503	SO:0001583	missense	6528				cellular nitrogen compound metabolic process|cellular response to cAMP|cellular response to gonadotropin stimulus|hormone biosynthetic process	integral to membrane|nucleus|plasma membrane	iodide transmembrane transporter activity|sodium:iodide symporter activity	g.chr19:17993012G>A		CCDS12368.1	19p13.11	2013-07-19	2013-07-19		ENSG00000105641	ENSG00000105641		"Solute carriers"	11040	protein-coding gene	gene with protein product		601843	"solute carrier family 5 (sodium iodide symporter), member 5"			9231811	Standard	NM_000453		Approved	NIS	uc002nhr.4	Q92911		ENST00000222248.3:c.1226G>A	19.37:g.17993012G>A	ENSP00000222248:p.Gly409Glu						p.G409E	NM_000453.2	NP_000444.1	Q92911	SC5A5_HUMAN			10	1573	+			409					O43702|Q2M335|Q9NYB6	Missense_Mutation	SNP	ENST00000222248.3	37	c.1226G>A	CCDS12368.1	.	.	.	.	.	.	.	.	.	.	G	12.94	2.089128	0.36855	.	.	ENSG00000105641	ENST00000222248	D	0.89746	-2.56	4.89	4.89	0.63831	.	0.187641	0.47852	D	0.000216	D	0.94082	0.8103	M	0.85630	2.765	0.41835	D	0.990095	D	0.61080	0.989	D	0.64595	0.927	D	0.93736	0.7046	10	0.35671	T	0.21	.	15.5341	0.75990	0.0:0.0:1.0:0.0	.	409	Q92911	SC5A5_HUMAN	E	409	ENSP00000222248:G409E	ENSP00000222248:G409E	G	+	2	0	SLC5A5	17854012	1.000000	0.71417	0.998000	0.56505	0.005000	0.04900	4.052000	0.57420	2.277000	0.76020	0.561000	0.74099	GGA		0.617	SLC5A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466690.1			13	25	0	0	0	1	0	13	25					A	17993012	G	A	17993012	3	1	402	1	0	0	0	0	1	0	0	0	14668	1174	41	3	1264	3	SLC5A5	19	17993012	Missense_Mutation	SNP	G	TCGA-VN-A88M-01A-11D-A34U-08	5903174	17993012	41135971	24	19586											
SIRPA	140885	broad.mit.edu	37	chr20	1903277	1903277	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccacccgaaggagcagggctCaaataccgccgctggtgagg	10	4	14	13	3	1	1	1	1	0	0	1	3	1	2	4	4	2	3	4	4	3	1			TCGA-VN-A88M-01A-11D-A34U-08	TCGA-VN-A88M-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06941061-7bb1-4dce-9bf7-c107d90e0017	71c317f6-14a3-48e0-a4b2-d53d72060ff3	g.chr20:1903277C>T	ENST00000358771.4	+	4	1225	c.1073C>T	c.(1072-1074)tCa>tTa	p.S358L	SIRPA_ENST00000356025.3_Missense_Mutation_p.S358L|SIRPA_ENST00000400068.3_Missense_Mutation_p.S358L	NM_001040023.1	NP_001035112.1	P78324	SHPS1_HUMAN	signal-regulatory protein alpha	358					blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|leukocyte migration (GO:0050900)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)				cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	21				Colorectal(46;0.018)|READ - Rectum adenocarcinoma(1;0.0556)		GAGCAGGGCTCAAATACCGCC	0.488																																					GBM(155;1668 1920 5945 42733 48121)	ENST00000358771.4																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	21						c.(1072-1074)tCa>tTa		signal-regulatory protein alpha							23	23	23					20																	1903277		2203	4299	6502	SO:0001583	missense	140885				blood coagulation|cell adhesion|cell junction assembly|leukocyte migration	integral to membrane|plasma membrane	SH3 domain binding	g.chr20:1903277C>T	D86043	CCDS13022.1	20p13	2013-01-11	2006-03-29	2006-03-29	ENSG00000198053	ENSG00000198053		"Signal-regulatory proteins", "CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C1-set domain containing"	9662	protein-coding gene	gene with protein product		602461	"protein tyrosine phosphatase, non-receptor type substrate 1"	PTPNS1		9070220, 9062191, 16339511	Standard	XM_005260669		Approved	SHPS1, SIRP, MYD-1, BIT, P84, SHPS-1, SIRPalpha, CD172a, SIRPalpha2, MFR, SIRP-ALPHA-1	uc002wfr.3	P78324	OTTHUMG00000031682	ENST00000358771.4:c.1073C>T	20.37:g.1903277C>T	ENSP00000351621:p.Ser358Leu					SIRPA_ENST00000356025.3_Missense_Mutation_p.S358L|SIRPA_ENST00000400068.3_Missense_Mutation_p.S358L	p.S358L	NM_001040023.1	NP_001035112.1	P78324	SHPS1_HUMAN		Colorectal(46;0.018)|READ - Rectum adenocarcinoma(1;0.0556)	4	1225	+			358					A2A2E1|A8K411|B2R6C3|O00683|O43799|Q8N517|Q8TAL8|Q9H0Z2|Q9UDX2|Q9UIJ6|Q9Y4U9	Missense_Mutation	SNP	ENST00000358771.4	37	c.1073C>T	CCDS13022.1	.	.	.	.	.	.	.	.	.	.	C	10.55	1.381012	0.24944	.	.	ENSG00000198053	ENST00000400068;ENST00000356025;ENST00000358771	T;T;T	0.08984	3.03;3.03;3.03	4.65	2.71	0.32032	Immunoglobulin-like fold (1);	2.003110	0.02002	N	0.046347	T	0.07773	0.0195	N	0.19112	0.55	0.09310	N	1	B;B;B	0.14438	0.004;0.01;0.001	B;B;B	0.17433	0.002;0.018;0.003	T	0.29274	-1.0017	10	0.54805	T	0.06	.	6.6688	0.23056	0.0:0.7982:0.0:0.2018	.	338;358;358	B4DP97;P78324-2;P78324	.;.;SHPS1_HUMAN	L	358	ENSP00000382941:S358L;ENSP00000348307:S358L;ENSP00000351621:S358L	ENSP00000348307:S358L	S	+	2	0	SIRPA	1851277	0.001000	0.12720	0.001000	0.08648	0.024000	0.10985	0.997000	0.29731	0.872000	0.35775	0.561000	0.74099	TCA		0.488	SIRPA-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000077568.2	NM_080792		4	13	0	0	0	1	0	4	13					T	1903277	C	T	1903277	3	4	402	1	0	0	0	0	1	0	0	0	14332	838	29	3	1087	3	SIRPA	20	1903277	Missense_Mutation	SNP	C	TCGA-VN-A88M-01A-11D-A34U-08		1903277	61122243	25	19587											
ADAMTS1	9510	broad.mit.edu	37	chr21	28210279	28210279	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gattccttcttcttctttacGaagtaggtgtatttaatttt	8	21	6	6	1	3	0	0	0	3	0	4	2	4	0	1	1	1	2	1	1	5	12	rs534611186		TCGA-VN-A88M-01A-11D-A34U-08	TCGA-VN-A88M-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06941061-7bb1-4dce-9bf7-c107d90e0017	71c317f6-14a3-48e0-a4b2-d53d72060ff3	g.chr21:28210279G>A	ENST00000284984.3	-	9	2977	c.2523C>T	c.(2521-2523)ttC>ttT	p.F841F		NM_006988.3	NP_008919.3	Q9UHI8	ATS1_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 1	841	Spacer.				heart trabecula formation (GO:0060347)|integrin-mediated signaling pathway (GO:0007229)|kidney development (GO:0001822)|negative regulation of cell proliferation (GO:0008285)|ovulation from ovarian follicle (GO:0001542)	basement membrane (GO:0005604)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)	heparin binding (GO:0008201)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(20)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	42		Breast(209;0.000962)		Lung(58;0.215)		TCTTCTTTACGAAGTAGGTGT	0.443																																						ENST00000284984.2																			0				central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(20)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	42						c.(2521-2523)ttC>ttT		ADAM metallopeptidase with thrombospondin type 1 motif, 1							84	83	83					21																	28210279		2203	4300	6503	SO:0001819	synonymous_variant	9510				integrin-mediated signaling pathway|negative regulation of cell proliferation|proteolysis		heparin binding|zinc ion binding	g.chr21:28210279G>A	AF060152	CCDS33524.1	21q21.3	2008-05-14	2005-08-19		ENSG00000154734	ENSG00000154734		"ADAM metallopeptidases with thrombospondin type 1 motif"	217	protein-coding gene	gene with protein product		605174	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 1"			10438512	Standard	NM_006988		Approved	C3-C5, METH1, KIAA1346	uc002ymf.3	Q9UHI8	OTTHUMG00000078688	ENST00000284984.3:c.2523C>T	21.37:g.28210279G>A							p.F841F	NM_006988.3	NP_008919.3	Q9UHI8	ATS1_HUMAN		Lung(58;0.215)	9	2977	-		Breast(209;0.000962)	841			Spacer.		D3DSD5|Q9NSJ8|Q9P2K0|Q9UH83|Q9UP80	Silent	SNP	ENST00000284984.3	37	c.2523C>T	CCDS33524.1																																																																																				0.443	ADAMTS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171650.2			3	49	0	0	0	1	0	3	49					A	28210279	G	A	28210279	2	1	402	1	0	0	0	0	0	0	0	1	255	1049	37	2		2	ADAMTS1	21	28210279	Silent	SNP	G	TCGA-VN-A88M-01A-11D-A34U-08		28210279	19919616	26	19588											
TFDP3	51270	broad.mit.edu	37	chrX	132351178	132351178	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccactgtactgagatccaccGgagcttgtggccagcatccc	8	8	10	15	1	0	1	0	1	0	1	2	3	2	2	5	2	3	3	5	2	1	2			TCGA-VN-A88M-01A-11D-A34U-08	TCGA-VN-A88M-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06941061-7bb1-4dce-9bf7-c107d90e0017	71c317f6-14a3-48e0-a4b2-d53d72060ff3	g.chrX:132351178G>A	ENST00000310125.4	-	1	1198	c.1110C>T	c.(1108-1110)tcC>tcT	p.S370S		NM_016521.2	NP_057605.3	Q5H9I0	TFDP3_HUMAN	transcription factor Dp family, member 3	370					cellular response to DNA damage stimulus (GO:0006974)|G1/S transition of mitotic cell cycle (GO:0000082)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(2)|kidney(4)|large_intestine(1)|lung(8)|ovary(1)|prostate(2)	19	Acute lymphoblastic leukemia(192;0.000127)					GAGATCCACCGGAGCTTGTGG	0.572																																						ENST00000310125.4																			0				breast(1)|endometrium(2)|kidney(4)|large_intestine(1)|lung(8)|ovary(1)|prostate(2)	19						c.(1108-1110)tcC>tcT		transcription factor Dp family, member 3							103	101	102					X																	132351178		2203	4300	6503	SO:0001819	synonymous_variant	51270					transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity	g.chrX:132351178G>A	AF219119	CCDS14636.2	Xq26.2	2009-03-25			ENSG00000183434	ENSG00000183434			24603	protein-coding gene	gene with protein product	"E2F-like protein", "cancer/testis antigen 30"	300772				12097419	Standard	NM_016521		Approved	HCA661, E2F-like, CT30	uc004exb.1	Q5H9I0	OTTHUMG00000022433	ENST00000310125.4:c.1110C>T	X.37:g.132351178G>A							p.S370S	NM_016521.2	NP_057605.3	Q5H9I0	TFDP3_HUMAN			1	1198	-	Acute lymphoblastic leukemia(192;0.000127)		370					Q6DK49|Q9NZ54	Silent	SNP	ENST00000310125.4	37	c.1110C>T	CCDS14636.2																																																																																				0.572	TFDP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058337.1	NM_016521		4	69	0	0	0	1	0	4	69					A	132351178	G	A	132351178	2	1	402	1	0	0	0	0	0	0	0	1	15796	1103	39	2		2	TFDP3	23	132351178	Silent	SNP	G	TCGA-VN-A88M-01A-11D-A34U-08		132351178	22919382	27	19589											
RPL10	6134	broad.mit.edu	37	chrX	153628938	153628938	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgattgaggccctgcgcaggGccaagttcaagtttcctggc	7	10	13	11	1	1	2	1	2	0	0	2	2	2	2	3	3	1	3	3	3	2	3			TCGA-VN-A88M-01A-11D-A34U-08	TCGA-VN-A88M-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06941061-7bb1-4dce-9bf7-c107d90e0017	71c317f6-14a3-48e0-a4b2-d53d72060ff3	g.chrX:153628938G>A	ENST00000369817.2	+	7	1039	c.463G>A	c.(463-465)Gcc>Acc	p.A155T	RPL10_ENST00000424325.2_Missense_Mutation_p.A155T|SNORA70_ENST00000384436.1_RNA|RPL10_ENST00000406022.2_Missense_Mutation_p.A104T			P27635	RL10_HUMAN	ribosomal protein L10	155					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CCTGCGCAGGGCCAAGTTCAA	0.582																																						ENST00000424325.2																			0				large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8						c.(463-465)Gcc>Acc		ribosomal protein L10							126	118	121					X																	153628938		2203	4300	6503	SO:0001583	missense	6134				endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|endoplasmic reticulum	structural constituent of ribosome	g.chrX:153628938G>A	AB007170	CCDS14746.1, CCDS76059.1	Xq28	2011-04-06			ENSG00000147403	ENSG00000147403		"L ribosomal proteins"	10298	protein-coding gene	gene with protein product		312173				9582194	Standard	NM_006013		Approved	NOV, QM, DXS648E, DXS648, FLJ23544, L10	uc004fkm.2	P27635	OTTHUMG00000033189	ENST00000369817.2:c.463G>A	X.37:g.153628938G>A	ENSP00000358832:p.Ala155Thr					RPL10_ENST00000406022.2_Missense_Mutation_p.A104T|RPL10_ENST00000369817.2_Missense_Mutation_p.A155T	p.A155T	NM_001256577.1|NM_001256580.1|NM_006013.3	NP_001243506.1|NP_001243509.1|NP_006004.2	P27635	RL10_HUMAN			6	651	+	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)		155					A3KQT0|D3DWW6|Q16470|Q2HXT7|Q53FH7|Q6FGN8|Q8TDA5	Missense_Mutation	SNP	ENST00000369817.2	37	c.463G>A	CCDS14746.1	.	.	.	.	.	.	.	.	.	.	G	29.2	4.984960	0.93044	.	.	ENSG00000147403	ENST00000369817;ENST00000424325;ENST00000436473;ENST00000344746;ENST00000406022;ENST00000427682;ENST00000428169	T;T;T;T	0.78481	-1.17;-1.17;-1.17;-1.18	4.95	4.95	0.65309	Ribosomal protein L10e/L16 (2);	0.068766	0.56097	U	0.000030	D	0.86892	0.6042	M	0.92923	3.36	0.80722	D	1	P;P	0.42296	0.775;0.456	B;P	0.48738	0.328;0.588	D	0.89937	0.4070	10	0.72032	D	0.01	-16.2467	14.6627	0.68885	0.0:0.0:1.0:0.0	.	104;155	F8W7C6;P27635	.;RL10_HUMAN	T	155;155;155;155;104;65;65	ENSP00000358832:A155T;ENSP00000413436:A155T;ENSP00000341730:A155T;ENSP00000385621:A104T	ENSP00000341730:A155T	A	+	1	0	RPL10	153282132	1.000000	0.71417	0.995000	0.50966	0.965000	0.64279	8.853000	0.92222	2.042000	0.60477	0.600000	0.82982	GCC		0.582	RPL10-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127774.5	NM_006013		3	42	0	0	0	1	0	3	42					A	153628938	G	A	153628938	3	1	402	1	0	0	0	0	1	0	0	0	13554	1203	42	3	481	3	RPL10	23	153628938	Missense_Mutation	SNP	G	TCGA-VN-A88M-01A-11D-A34U-08	21277760	153628938	1641622	28	19590											
IFI16	3428	broad.mit.edu	37	chr1	159021837	159021837	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	actcctaaaatcaatcagctTtgctcacaaactaaaggaag	17	9	5	10	0	3	0	3	0	0	0	4	1	4	1	1	1	3	2	1	1	7	3			TCGA-VN-A88N-01A-11D-A364-08	TCGA-VN-A88N-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d074f30a-3b97-4e7d-a291-576c573768e9	a8f14eb8-6c49-4824-95e3-5d14cfe55729	g.chr1:159021837T>G	ENST00000295809.7	+	10	2289	c.2034T>G	c.(2032-2034)ctT>ctG	p.L678L	IFI16_ENST00000430894.2_Silent_p.L626L|IFI16_ENST00000340979.6_Silent_p.L566L|IFI16_ENST00000368132.3_Silent_p.L622L|IFI16_ENST00000448393.2_Silent_p.L566L|IFI16_ENST00000359709.3_Silent_p.L622L|IFI16_ENST00000368131.4_Silent_p.L622L			Q16666	IF16_HUMAN	interferon, gamma-inducible protein 16	678	HIN-200 2. {ECO:0000255|PROSITE- ProRule:PRU00106}.|Interaction with TP53 core domain.				activation of cysteine-type endopeptidase activity (GO:0097202)|activation of innate immune response (GO:0002218)|autophagy (GO:0006914)|cell proliferation (GO:0008283)|cellular response to glucose starvation (GO:0042149)|cellular response to ionizing radiation (GO:0071479)|defense response to virus (GO:0051607)|hemopoiesis (GO:0030097)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|monocyte differentiation (GO:0030224)|myeloid cell differentiation (GO:0030099)|negative regulation of cysteine-type endopeptidase activity (GO:2000117)|negative regulation of DNA binding (GO:0043392)|negative regulation of innate immune response (GO:0045824)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of viral genome replication (GO:0045071)|positive regulation of cytokine production (GO:0001819)|positive regulation of interleukin-1 beta production (GO:0032731)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of autophagy (GO:0010506)|regulation of gene expression, epigenetic (GO:0040029)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	core promoter binding (GO:0001047)|double-stranded DNA binding (GO:0003690)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|transcription factor binding (GO:0008134)			cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_hematologic(112;0.0429)					TCAATCAGCTTTGCTCACAAA	0.403																																						ENST00000295809.7																			0				cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(2032-2034)ctT>ctG		interferon, gamma-inducible protein 16							66	70	68					1																	159021837		2203	4300	6503	SO:0001819	synonymous_variant	3428				cell proliferation|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|monocyte differentiation|negative regulation of transcription, DNA-dependent|response to virus|transcription, DNA-dependent	cytoplasm|nuclear speck|nucleolus	double-stranded DNA binding|protein binding	g.chr1:159021837T>G	M63838	CCDS1180.3, CCDS58039.1	1q22	2008-02-05			ENSG00000163565	ENSG00000163565			5395	protein-coding gene	gene with protein product		147586				1526658, 7959953	Standard	NM_005531		Approved	IFNGIP1, PYHIN2	uc010pis.2	Q16666	OTTHUMG00000037108	ENST00000295809.7:c.2034T>G	1.37:g.159021837T>G						IFI16_ENST00000368131.4_Silent_p.L622L|IFI16_ENST00000340979.6_Silent_p.L566L|IFI16_ENST00000430894.2_Silent_p.L626L|IFI16_ENST00000359709.3_Silent_p.L622L|IFI16_ENST00000448393.2_Silent_p.L566L|IFI16_ENST00000368132.3_Silent_p.L622L	p.L678L			Q16666	IF16_HUMAN			10	2289	+	all_hematologic(112;0.0429)		678			HIN-200 2.		B4DJT8|H3BLV7|Q59GX0|Q5T3W7|Q5T3W8|Q5T3X0|Q5T3X1|Q5T3X2|Q8N9E5|Q8NEQ7|Q96AJ5|Q9UH78	Silent	SNP	ENST00000295809.7	37	c.2034T>G		.	.	.	.	.	.	.	.	.	.	T	3.349	-0.132994	0.06711	.	.	ENSG00000163565	ENST00000448393	.	.	.	4.85	-0.289	0.12851	.	.	.	.	.	T	0.09113	0.0225	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.35822	-0.9773	4	.	.	.	.	4.2687	0.10776	0.0:0.1859:0.3422:0.4719	.	.	.	.	C	387	.	.	F	+	2	0	IFI16	157288461	0.002000	0.14202	0.000000	0.03702	0.005000	0.04900	0.189000	0.17037	-0.218000	0.10018	0.496000	0.49642	TTT		0.403	IFI16-013	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000421720.1	NM_005531		35	53	0	0	0	1	0	35	53					G	159021837	T	G	159021837	2	3	403	1	0	0	0	0	0	0	0	1	7511	1828	64	5		5	IFI16	1	159021837	Silent	SNP	T	TCGA-VN-A88N-01A-11D-A364-08		159021837	90228784	1	19591			1	43		2	2	12	N	T_C	1.20813e-05
IFI16	3428	broad.mit.edu	37	chr1	159021848	159021848	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caatcagctttgctcacaaaCtaaaggaagttttgtgaatg	14	12	8	7	0	2	1	2	1	0	0	2	2	2	2	0	1	3	3	0	1	6	4			TCGA-VN-A88N-01A-11D-A364-08	TCGA-VN-A88N-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d074f30a-3b97-4e7d-a291-576c573768e9	a8f14eb8-6c49-4824-95e3-5d14cfe55729	g.chr1:159021848C>A	ENST00000295809.7	+	10	2300	c.2045C>A	c.(2044-2046)aCt>aAt	p.T682N	IFI16_ENST00000430894.2_Missense_Mutation_p.T630N|IFI16_ENST00000340979.6_Missense_Mutation_p.T570N|IFI16_ENST00000368132.3_Missense_Mutation_p.T626N|IFI16_ENST00000448393.2_Missense_Mutation_p.T570N|IFI16_ENST00000359709.3_Missense_Mutation_p.T626N|IFI16_ENST00000368131.4_Missense_Mutation_p.T626N			Q16666	IF16_HUMAN	interferon, gamma-inducible protein 16	682	HIN-200 2. {ECO:0000255|PROSITE- ProRule:PRU00106}.|Interaction with TP53 core domain.				activation of cysteine-type endopeptidase activity (GO:0097202)|activation of innate immune response (GO:0002218)|autophagy (GO:0006914)|cell proliferation (GO:0008283)|cellular response to glucose starvation (GO:0042149)|cellular response to ionizing radiation (GO:0071479)|defense response to virus (GO:0051607)|hemopoiesis (GO:0030097)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|monocyte differentiation (GO:0030224)|myeloid cell differentiation (GO:0030099)|negative regulation of cysteine-type endopeptidase activity (GO:2000117)|negative regulation of DNA binding (GO:0043392)|negative regulation of innate immune response (GO:0045824)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of viral genome replication (GO:0045071)|positive regulation of cytokine production (GO:0001819)|positive regulation of interleukin-1 beta production (GO:0032731)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of autophagy (GO:0010506)|regulation of gene expression, epigenetic (GO:0040029)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	core promoter binding (GO:0001047)|double-stranded DNA binding (GO:0003690)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|transcription factor binding (GO:0008134)			cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_hematologic(112;0.0429)					TGCTCACAAACTAAAGGAAGT	0.393																																						ENST00000295809.7																			0				cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(2044-2046)aCt>aAt		interferon, gamma-inducible protein 16							61	65	64					1																	159021848		2203	4300	6503	SO:0001583	missense	3428				cell proliferation|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|monocyte differentiation|negative regulation of transcription, DNA-dependent|response to virus|transcription, DNA-dependent	cytoplasm|nuclear speck|nucleolus	double-stranded DNA binding|protein binding	g.chr1:159021848C>A	M63838	CCDS1180.3, CCDS58039.1	1q22	2008-02-05			ENSG00000163565	ENSG00000163565			5395	protein-coding gene	gene with protein product		147586				1526658, 7959953	Standard	NM_005531		Approved	IFNGIP1, PYHIN2	uc010pis.2	Q16666	OTTHUMG00000037108	ENST00000295809.7:c.2045C>A	1.37:g.159021848C>A	ENSP00000295809:p.Thr682Asn					IFI16_ENST00000368131.4_Missense_Mutation_p.T626N|IFI16_ENST00000340979.6_Missense_Mutation_p.T570N|IFI16_ENST00000430894.2_Missense_Mutation_p.T630N|IFI16_ENST00000359709.3_Missense_Mutation_p.T626N|IFI16_ENST00000448393.2_Missense_Mutation_p.T570N|IFI16_ENST00000368132.3_Missense_Mutation_p.T626N	p.T682N			Q16666	IF16_HUMAN			10	2300	+	all_hematologic(112;0.0429)		682			HIN-200 2.		B4DJT8|H3BLV7|Q59GX0|Q5T3W7|Q5T3W8|Q5T3X0|Q5T3X1|Q5T3X2|Q8N9E5|Q8NEQ7|Q96AJ5|Q9UH78	Missense_Mutation	SNP	ENST00000295809.7	37	c.2045C>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	8.139|8.139	0.784695|0.784695	0.16189|0.16189	.|.	.|.	ENSG00000163565|ENSG00000163565	ENST00000448393|ENST00000359709;ENST00000295809;ENST00000340979;ENST00000368131;ENST00000368132;ENST00000430894	.|T;T;T;T;T	.|0.14766	.|2.48;2.48;2.48;2.48;2.48	4.85|4.85	-3.69|-3.69	0.04450|0.04450	.|.	.|.	.|.	.|.	.|.	T|T	0.02610|0.02610	0.0079|0.0079	L|L	0.32530|0.32530	0.975|0.975	0.09310|0.09310	N|N	1|1	.|B;B;B	.|0.20368	.|0.044;0.001;0.008	.|B;B;B	.|0.26202	.|0.067;0.002;0.018	T|T	0.47407|0.47407	-0.9120|-0.9120	5|9	.|0.49607	.|T	.|0.09	.|.	1.3964|1.3964	0.02261|0.02261	0.4689:0.1985:0.1489:0.1837|0.4689:0.1985:0.1489:0.1837	.|.	.|630;570;626	.|E7EPR3;Q16666-3;Q16666-2	.|.;.;.	I|N	391|311;682;570;626;626;630	.|ENSP00000295809:T682N;ENSP00000342741:T570N;ENSP00000357113:T626N;ENSP00000357114:T626N;ENSP00000394935:T630N	.|ENSP00000295809:T682N	L|T	+|+	1|2	2|0	IFI16|IFI16	157288472|157288472	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.001000|0.001000	0.01503|0.01503	-1.099000|-1.099000	0.03343|0.03343	-0.270000|-0.270000	0.09285|0.09285	0.609000|0.609000	0.83330|0.83330	CTA|ACT		0.393	IFI16-013	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000421720.1	NM_005531		36	54	1	0	3.62531e-18	1	3.89721e-18	36	54					A	159021848	C	A	159021848	3	1	403	1	0	0	0	0	1	0	0	0	7511	565	20	5	1907	5	IFI16	1	159021848	Missense_Mutation	SNP	C	TCGA-VN-A88N-01A-11D-A364-08	11	159021848	90228773	2	19592			1	43		2	2	12	N	T_C	1.20813e-05
SELP	6403	broad.mit.edu	37	chr1	169580817	169580817	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cactctgtagccgggctggcActcaaatttacagctggagc	9	9	11	12	1	2	0	1	0	1	0	2	1	2	1	1	3	4	4	1	3	3	3			TCGA-VN-A88N-01A-11D-A364-08	TCGA-VN-A88N-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d074f30a-3b97-4e7d-a291-576c573768e9	a8f14eb8-6c49-4824-95e3-5d14cfe55729	g.chr1:169580817A>G	ENST00000263686.6	-	7	1097	c.1060T>C	c.(1060-1062)Tgc>Cgc	p.C354R	SELP_ENST00000458599.2_Intron|SELP_ENST00000367791.2_Intron|SELP_ENST00000367793.2_Missense_Mutation_p.C292R|SELP_ENST00000367794.2_Intron|SELP_ENST00000367792.2_Intron|SELP_ENST00000367786.2_Intron|SELP_ENST00000367788.2_Missense_Mutation_p.C292R	NM_003005.3	NP_002996.2	P16109	LYAM3_HUMAN	selectin P (granule membrane protein 140kDa, antigen CD62)	354	Sushi 3. {ECO:0000255|PROSITE- ProRule:PRU00302}.				blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|defense response to Gram-negative bacterium (GO:0050829)|heterophilic cell-cell adhesion (GO:0007157)|inflammatory response (GO:0006954)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte tethering or rolling (GO:0050901)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of platelet activation (GO:0010572)|regulation of integrin activation (GO:0033623)|response to lipopolysaccharide (GO:0032496)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|platelet alpha granule membrane (GO:0031092)|platelet dense granule membrane (GO:0031088)	fucose binding (GO:0042806)|glycosphingolipid binding (GO:0043208)|heparin binding (GO:0008201)|lipopolysaccharide binding (GO:0001530)|oligosaccharide binding (GO:0070492)|sialic acid binding (GO:0033691)			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(32)|ovary(4)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(923;0.208)				Dalteparin(DB06779)|Heparin(DB01109)|Nadroparin(DB08813)	CCGGGCTGGCACTCAAATTTA	0.552																																						ENST00000263686.6																			0				breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(32)|ovary(4)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						c.(1060-1062)Tgc>Cgc		selectin P (granule membrane protein 140kDa, antigen CD62)	Clopidogrel(DB00758)|Heparin(DB01109)|Tirofiban(DB00775)						109	107	108					1																	169580817		2203	4300	6503	SO:0001583	missense	6403				platelet activation|platelet degranulation|positive regulation of platelet activation	external side of plasma membrane|extracellular space|integral to plasma membrane|membrane fraction|platelet alpha granule membrane|platelet dense granule membrane|soluble fraction	fucose binding|glycosphingolipid binding|heparin binding|lipopolysaccharide binding|oligosaccharide binding|sialic acid binding	g.chr1:169580817A>G	BC068533	CCDS1282.1	1q22-q25	2008-02-05	2002-08-29		ENSG00000174175	ENSG00000174175		"CD molecules"	10721	protein-coding gene	gene with protein product		173610	"selectin P (granule membrane protein 140kD, antigen CD62)"	GRMP		1375831	Standard	NM_003005		Approved	CD62, PSEL, PADGEM, GMP140, CD62P	uc001ggi.4	P16109	OTTHUMG00000034685	ENST00000263686.6:c.1060T>C	1.37:g.169580817A>G	ENSP00000263686:p.Cys354Arg					SELP_ENST00000367791.2_Intron|SELP_ENST00000367788.2_Missense_Mutation_p.C292R|SELP_ENST00000367792.2_Intron|SELP_ENST00000458599.2_Intron|SELP_ENST00000367794.2_Intron|SELP_ENST00000367793.2_Missense_Mutation_p.C292R|SELP_ENST00000367786.2_Intron	p.C354R	NM_003005.3	NP_002996.2	P16109	LYAM3_HUMAN			7	1097	-	all_hematologic(923;0.208)		354			Sushi 3.		Q5R344|Q8IVD1	Missense_Mutation	SNP	ENST00000263686.6	37	c.1060T>C	CCDS1282.1	.	.	.	.	.	.	.	.	.	.	A	11.69	1.715008	0.30413	.	.	ENSG00000174175	ENST00000367790;ENST00000426706;ENST00000263686;ENST00000544572;ENST00000367793;ENST00000367788	D;D;D	0.99778	-6.73;-6.73;-6.73	5.22	2.88	0.33553	Complement control module (2);Sushi/SCR/CCP (3);	0.189023	0.38326	N	0.001728	D	0.99764	0.9904	H	0.98996	4.395	0.27306	N	0.957456	D;D;D	0.69078	0.984;0.984;0.997	P;P;D	0.65987	0.899;0.899;0.94	D	0.99958	1.1668	10	0.87932	D	0	-6.8357	5.8124	0.18473	0.7442:0.1691:0.0867:0.0	.	354;354;354	Q6NUL9;P16109;G3V1U2	.;LYAM3_HUMAN;.	R	354;353;354;354;292;292	ENSP00000263686:C354R;ENSP00000356767:C292R;ENSP00000356762:C292R	ENSP00000263686:C354R	C	-	1	0	SELP	167847441	0.825000	0.29262	0.132000	0.22025	0.190000	0.23558	3.225000	0.51246	0.310000	0.22990	0.533000	0.62120	TGC		0.552	SELP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000083916.4	NM_003005		4	104	0	0	0	1	0	4	104					G	169580817	A	G	169580817	3	3	403	1	0	0	0	0	1	0	0	0	14019	159	6	4	1472	4	SELP	1	169580817	Missense_Mutation	SNP	A	TCGA-VN-A88N-01A-11D-A364-08	10558969	169580817	79669804	3	19593											
LAMC1	3915	broad.mit.edu	37	chr1	183093828	183093828	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctgggtagaaacggccctGtgagactttgccgcctgtgc	6	9	13	13	2	0	2	0	1	0	2	0	3	0	2	4	2	3	1	4	2	2	2			TCGA-VN-A88N-01A-11D-A364-08	TCGA-VN-A88N-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d074f30a-3b97-4e7d-a291-576c573768e9	a8f14eb8-6c49-4824-95e3-5d14cfe55729	g.chr1:183093828G>A	ENST00000258341.4	+	14	2721	c.2464G>A	c.(2464-2466)Gtg>Atg	p.V822M		NM_002293.3	NP_002284.3	P11047	LAMC1_HUMAN	laminin, gamma 1 (formerly LAMB2)	822	Laminin EGF-like 7. {ECO:0000255|PROSITE- ProRule:PRU00460}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|endoderm development (GO:0007492)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|positive regulation of epithelial cell proliferation (GO:0050679)|protein complex assembly (GO:0006461)|substrate adhesion-dependent cell spreading (GO:0034446)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-11 complex (GO:0043260)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)			NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(27)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	76						AAACGGCCCTGTGAGACTTTG	0.498																																						ENST00000258341.4																			0				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(27)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	76						c.(2464-2466)Gtg>Atg		laminin, gamma 1 (formerly LAMB2)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						121	112	115					1																	183093828		2203	4300	6503	SO:0001583	missense	3915				axon guidance|cell migration|endoderm development|extracellular matrix disassembly|hemidesmosome assembly|positive regulation of epithelial cell proliferation|protein complex assembly|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	extracellular matrix structural constituent	g.chr1:183093828G>A	J03202	CCDS1351.1	1q31	2013-03-01			ENSG00000135862	ENSG00000135862		"Laminins"	6492	protein-coding gene	gene with protein product		150290		LAMB2		3234037	Standard	NM_002293		Approved		uc001gpy.4	P11047	OTTHUMG00000035418	ENST00000258341.4:c.2464G>A	1.37:g.183093828G>A	ENSP00000258341:p.Val822Met						p.V822M	NM_002293.3	NP_002284.3	P11047	LAMC1_HUMAN			14	2721	+			822			Laminin EGF-like 7.		Q5VYE7	Missense_Mutation	SNP	ENST00000258341.4	37	c.2464G>A	CCDS1351.1	.	.	.	.	.	.	.	.	.	.	G	12.10	1.837184	0.32513	.	.	ENSG00000135862	ENST00000258341	T	0.63417	-0.04	5.51	4.4	0.53042	EGF-like, laminin (3);	0.328242	0.31210	N	0.008044	T	0.59756	0.2217	M	0.72894	2.215	0.25693	N	0.985664	B	0.33477	0.413	B	0.35813	0.211	T	0.54768	-0.8244	10	0.33141	T	0.24	.	10.5085	0.44847	0.0831:0.1379:0.779:0.0	.	822	P11047	LAMC1_HUMAN	M	822	ENSP00000258341:V822M	ENSP00000258341:V822M	V	+	1	0	LAMC1	181360451	1.000000	0.71417	0.965000	0.40720	0.395000	0.30598	4.144000	0.58057	2.587000	0.87381	0.650000	0.86243	GTG		0.498	LAMC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085954.2	NM_002293		36	61	0	0	0	1	0	36	61					A	183093828	G	A	183093828	3	1	403	1	0	0	0	0	1	0	0	0	8614	1377	48	3	2518	3	LAMC1	1	183093828	Missense_Mutation	SNP	G	TCGA-VN-A88N-01A-11D-A364-08	13513011	183093828	66156793	4	19594											
CRB1	23418	broad.mit.edu	37	chr1	197297963	197297963	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cagcccttgccaaaatggggCcgtgtgccaggatggaattg	9	8	14	10	1	0	0	0	0	0	0	0	2	0	2	4	4	3	0	4	4	3	2	rs62635651		TCGA-VN-A88N-01A-11D-A364-08	TCGA-VN-A88N-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d074f30a-3b97-4e7d-a291-576c573768e9	a8f14eb8-6c49-4824-95e3-5d14cfe55729	g.chr1:197297963C>T	ENST00000367400.3	+	2	617	c.482C>T	c.(481-483)gCc>gTc	p.A161V	CRB1_ENST00000535699.1_Missense_Mutation_p.A92V|CRB1_ENST00000367399.2_Missense_Mutation_p.A161V|CRB1_ENST00000538660.1_Missense_Mutation_p.A161V	NM_201253.2	NP_957705.1	P82279	CRUM1_HUMAN	crumbs family member 1, photoreceptor morphogenesis associated	161	EGF-like 4; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.		A -> V (in RP12). {ECO:0000269|PubMed:10508521}.		cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|eye photoreceptor cell development (GO:0042462)|plasma membrane organization (GO:0007009)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						CAAAATGGGGCCGTGTGCCAG	0.507																																						ENST00000367400.3																			0				NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132	GRCh37	CM992147	CRB1	M	rs62635651	c.(481-483)gCc>gTc		crumbs homolog 1 (Drosophila)							85	67	73					1																	197297963		2203	4300	6503	SO:0001583	missense	23418				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding	g.chr1:197297963C>T		CCDS1390.1, CCDS53454.1, CCDS58052.1, CCDS58053.1	1q31-q32.1	2014-02-06	2014-02-06		ENSG00000134376	ENSG00000134376			2343	protein-coding gene	gene with protein product		604210	"crumbs (Drosophila) homolog 1", "crumbs homolog 1 (Drosophila)"	RP12		10373321, 10508521	Standard	NM_201253		Approved	LCA8	uc001gtz.3	P82279	OTTHUMG00000035663	ENST00000367400.3:c.482C>T	1.37:g.197297963C>T	ENSP00000356370:p.Ala161Val					CRB1_ENST00000538660.1_Missense_Mutation_p.A161V|CRB1_ENST00000535699.1_Missense_Mutation_p.A92V|CRB1_ENST00000367399.2_Missense_Mutation_p.A161V	p.A161V	NM_201253.2	NP_957705.1	P82279	CRUM1_HUMAN			2	617	+			161		A -> V (in RP12).	EGF-like 4; calcium-binding (Potential).		A2A308|B7Z5T2|B9EG71|Q5K3A6|Q5TC28|Q5VUT1|Q6N027|Q8WWY0|Q8WWY1	Missense_Mutation	SNP	ENST00000367400.3	37	c.482C>T	CCDS1390.1	.	.	.	.	.	.	.	.	.	.	C	16.43	3.121169	0.56613	.	.	ENSG00000134376	ENST00000535699;ENST00000538660;ENST00000367400;ENST00000367399	D;D;D;D	0.94376	-3.41;-3.41;-3.41;-3.41	5.52	5.52	0.82312	EGF-like calcium-binding, conserved site (1);EGF (1);EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	.	.	.	.	D	0.97570	0.9204	M	0.91038	3.17	0.80722	D	1	D;D;P;D;D	0.89917	1.0;0.999;0.49;1.0;1.0	D;D;B;D;D	0.91635	0.998;0.995;0.246;0.999;0.998	D	0.98006	1.0363	9	0.87932	D	0	.	19.8125	0.96553	0.0:1.0:0.0:0.0	rs62635651	161;92;161;161;186	B7Z5T2;F5H0L2;P82279-3;P82279;Q59H36	.;.;.;CRUM1_HUMAN;.	V	92;161;161;161	ENSP00000438786:A92V;ENSP00000438091:A161V;ENSP00000356370:A161V;ENSP00000356369:A161V	ENSP00000356369:A161V	A	+	2	0	CRB1	195564586	1.000000	0.71417	0.177000	0.23020	0.097000	0.18754	7.354000	0.79424	2.745000	0.94114	0.655000	0.94253	GCC		0.507	CRB1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086565.2	NM_201253		7	26	0	0	0	1	0	7	26					T	197297963	C	T	197297963	3	4	403	1	0	0	0	0	1	0	0	0	3848	739	26	3	488	3	CRB1	1	197297963	Missense_Mutation	SNP	C	TCGA-VN-A88N-01A-11D-A364-08	14204135	197297963	51952658	5	19595											
LRRTM4	80059	broad.mit.edu	37	chr2	77745759	77745759	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctcatactcttgctctgcGccaggaatctgaaaccctgg	8	11	9	13	1	4	1	1	1	3	0	4	2	4	2	2	2	5	2	2	2	3	2	rs546452040		TCGA-VN-A88N-01A-11D-A364-08	TCGA-VN-A88N-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d074f30a-3b97-4e7d-a291-576c573768e9	a8f14eb8-6c49-4824-95e3-5d14cfe55729	g.chr2:77745759G>A	ENST00000409093.1	-	3	1572	c.1236C>T	c.(1234-1236)ggC>ggT	p.G412G	LRRTM4_ENST00000409088.3_Silent_p.G412G|LRRTM4_ENST00000409282.1_Silent_p.G413G|LRRTM4_ENST00000409884.1_Silent_p.G412G|LRRTM4_ENST00000409911.1_Silent_p.G413G			Q86VH4	LRRT4_HUMAN	leucine rich repeat transmembrane neuronal 4	412					alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor clustering (GO:0097113)|regulation of presynaptic membrane organization (GO:1901629)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)				autonomic_ganglia(1)|endometrium(1)|large_intestine(6)|lung(49)|ovary(2)|pancreas(3)|prostate(1)|upper_aerodigestive_tract(1)	64				Colorectal(11;0.059)		CTTGCTCTGCGCCAGGAATCT	0.473													G|||	1	0.000199681	0	0	5008	,	,		17981	0		0	False		,,,				2504	0.001					ENST00000409088.3																			0				autonomic_ganglia(1)|endometrium(1)|large_intestine(6)|lung(49)|ovary(2)|pancreas(3)|prostate(1)|upper_aerodigestive_tract(1)	64						c.(1234-1236)ggC>ggT		leucine rich repeat transmembrane neuronal 4							108	106	106					2																	77745759		1895	4120	6015	SO:0001819	synonymous_variant	80059					integral to membrane		g.chr2:77745759G>A	AK122612	CCDS46346.1, CCDS46347.1, CCDS74530.1	2p12	2008-02-05			ENSG00000176204	ENSG00000176204			19411	protein-coding gene	gene with protein product		610870				12676565	Standard	NM_024993		Approved	FLJ12568	uc002snr.3	Q86VH4	OTTHUMG00000152842	ENST00000409093.1:c.1236C>T	2.37:g.77745759G>A						LRRTM4_ENST00000409911.1_Silent_p.G413G|LRRTM4_ENST00000409093.1_Silent_p.G412G|LRRTM4_ENST00000409884.1_Silent_p.G412G|LRRTM4_ENST00000409282.1_Silent_p.G413G	p.G412G	NM_024993.4	NP_079269.4	Q86VH4	LRRT4_HUMAN		Colorectal(11;0.059)	3	1650	-			412					Q4FZ98|Q6UXJ7	Silent	SNP	ENST00000409093.1	37	c.1236C>T	CCDS46346.1																																																																																				0.473	LRRTM4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000328225.1	NM_024993		3	40	0	0	0	1	0	3	40					A	77745759	G	A	77745759	2	1	403	1	0	0	0	0	0	0	0	1	9042	1074	38	1		1	LRRTM4	2	77745759	Silent	SNP	G	TCGA-VN-A88N-01A-11D-A364-08		77745759	165453614	6	19596											
IQCA1	79781	broad.mit.edu	37	chr2	237285745	237285745	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tattattctctgtgtactcaCcaatgtaatcagagaggttg	11	15	8	7	0	3	1	2	0	1	1	4	2	3	1	1	1	1	3	1	1	5	6			TCGA-VN-A88N-01A-11D-A364-08	TCGA-VN-A88N-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d074f30a-3b97-4e7d-a291-576c573768e9	a8f14eb8-6c49-4824-95e3-5d14cfe55729	g.chr2:237285745C>A	ENST00000409907.3	-	13	1836		c.e13+1		IQCA1_ENST00000309507.5_Splice_Site|IQCA1_ENST00000431676.2_Splice_Site	NM_024726.4	NP_079002.3	Q86XH1	IQCA1_HUMAN	IQ motif containing with AAA domain 1								ATP binding (GO:0005524)			cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(1)	26						TGTGTACTCACCAATGTAATC	0.418																																						ENST00000409907.3																			0				cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(1)	26						c.e13+1		IQ motif containing with AAA domain 1							106	102	103					2																	237285745		1896	4122	6018	SO:0001630	splice_region_variant	79781						ATP binding	g.chr2:237285745C>A	AK026180	CCDS46549.1, CCDS59441.1, CCDS74677.1	2q37.3	2014-07-18	2008-07-02	2008-07-02	ENSG00000132321	ENSG00000132321		"ATPases / AAA-type"	26195	protein-coding gene	gene with protein product	"dynein regulatory complex subunit 11"		"IQ motif containing with AAA domain"	IQCA		23427265	Standard	NM_024726		Approved	FLJ22527, DRC11	uc002vwb.3	Q86XH1	OTTHUMG00000153058	ENST00000409907.3:c.1561+1G>T	2.37:g.237285745C>A						IQCA1_ENST00000431676.2_Splice_Site|IQCA1_ENST00000309507.5_Splice_Site				Q86XH1	IQCA1_HUMAN			13	1836	-								B4DFH9|E7EWQ0|Q4G164|Q53R37|Q53RV3|Q96NS7|Q9H680	Splice_Site	SNP	ENST00000409907.3	37		CCDS46549.1	.	.	.	.	.	.	.	.	.	.	C	14.44	2.534998	0.45073	.	.	ENSG00000132321	ENST00000409907;ENST00000457693;ENST00000309507;ENST00000431676;ENST00000412437	.	.	.	5.63	5.63	0.86233	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.8901	0.88869	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	IQCA1	236950484	1.000000	0.71417	1.000000	0.80357	0.214000	0.24535	6.234000	0.72326	2.652000	0.90054	0.655000	0.94253	.		0.418	IQCA1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000329266.1	NM_024726	Intron	22	28	1	0	3.01185e-09	1	3.15877e-09	22	28					A	237285745	C	A	237285745	5	1	403	1	0	0	0	0	0	0	1	0	7802	521	18	5	934	5	IQCA1	2	237285745	Splice_Site	SNP	C	TCGA-VN-A88N-01A-11D-A364-08	159539986	237285745	5913628	7	19597											
GATA2	2624	broad.mit.edu	37	chr3	128200724	128200724	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtccccgttggcgtttcggcGccataaggtggtggttgtcg	3	12	16	10	5	0	0	0	0	0	0	3	0	1	0	3	5	0	3	3	5	1	4			TCGA-VN-A88N-01A-11D-A364-08	TCGA-VN-A88N-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d074f30a-3b97-4e7d-a291-576c573768e9	a8f14eb8-6c49-4824-95e3-5d14cfe55729	g.chr3:128200724G>A	ENST00000341105.2	-	5	1412	c.1081C>T	c.(1081-1083)Cgc>Tgc	p.R361C	GATA2_ENST00000489987.1_5'UTR|GATA2_ENST00000430265.2_Missense_Mutation_p.R347C|GATA2_ENST00000487848.1_Missense_Mutation_p.R361C	NM_032638.4	NP_116027.2	P23769	GATA2_HUMAN	GATA binding protein 2	361			R -> P (in LMPM). {ECO:0000269|PubMed:21892158}.		blood coagulation (GO:0007596)|cell differentiation in hindbrain (GO:0021533)|cell fate determination (GO:0001709)|cell maturation (GO:0048469)|central nervous system neuron development (GO:0021954)|commitment of neuronal cell to specific neuron type in forebrain (GO:0021902)|definitive hemopoiesis (GO:0060216)|embryonic placenta development (GO:0001892)|eosinophil fate commitment (GO:0035854)|GABAergic neuron differentiation (GO:0097154)|homeostasis of number of cells within a tissue (GO:0048873)|inner ear morphogenesis (GO:0042472)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of fat cell proliferation (GO:0070345)|negative regulation of macrophage differentiation (GO:0045650)|negative regulation of neural precursor cell proliferation (GO:2000178)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|phagocytosis (GO:0006909)|pituitary gland development (GO:0021983)|positive regulation of angiogenesis (GO:0045766)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of megakaryocyte differentiation (GO:0045654)|positive regulation of phagocytosis (GO:0050766)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of forebrain neuron differentiation (GO:2000977)|regulation of histone acetylation (GO:0035065)|semicircular canal development (GO:0060872)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)|urogenital system development (GO:0001655)|ventral spinal cord interneuron differentiation (GO:0021514)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	C2H2 zinc finger domain binding (GO:0070742)|chromatin binding (GO:0003682)|enhancer sequence-specific DNA binding (GO:0001158)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(58)|kidney(2)|large_intestine(3)|lung(9)|prostate(3)|skin(1)|urinary_tract(1)	79				GBM - Glioblastoma multiforme(114;0.173)		GCGTTTCGGCGCCATAAGGTG	0.657			Mis		AML(CML blast transformation)																																	ENST00000341105.2				Dom	yes		3	3q21.3	2624	Mis	GATA binding protein 2			L			AML(CML blast transformation)		0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(58)|kidney(2)|large_intestine(3)|lung(9)|prostate(3)|skin(1)|urinary_tract(1)	79						c.(1081-1083)Cgc>Tgc		GATA binding protein 2							104	86	92					3																	128200724		2203	4300	6503	SO:0001583	missense	2624				blood coagulation|negative regulation of fat cell differentiation|negative regulation of fat cell proliferation|negative regulation of neural precursor cell proliferation|negative regulation of Notch signaling pathway|phagocytosis|positive regulation of angiogenesis|positive regulation of phagocytosis|positive regulation of transcription from RNA polymerase II promoter	nucleoplasm	C2H2 zinc finger domain binding|chromatin binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding	g.chr3:128200724G>A	AF169253	CCDS3049.1, CCDS46903.1	3q21	2014-09-17	2001-11-28		ENSG00000179348	ENSG00000179348		"GATA zinc finger domain containing"	4171	protein-coding gene	gene with protein product		137295	"GATA-binding protein 2"			1714909	Standard	NM_032638		Approved	NFE1B	uc003eko.2	P23769	OTTHUMG00000159689	ENST00000341105.2:c.1081C>T	3.37:g.128200724G>A	ENSP00000345681:p.Arg361Cys					GATA2_ENST00000430265.2_Missense_Mutation_p.R347C|GATA2_ENST00000489987.1_5'UTR|GATA2_ENST00000487848.1_Missense_Mutation_p.R361C	p.R361C	NM_032638.4	NP_116027.2	P23769	GATA2_HUMAN		GBM - Glioblastoma multiforme(114;0.173)	5	1412	-			361					D3DNB3|Q53YE0|Q96BH0|Q96BH8|Q9BUJ6	Missense_Mutation	SNP	ENST00000341105.2	37	c.1081C>T	CCDS3049.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.220751	0.79464	.	.	ENSG00000179348	ENST00000341105;ENST00000430265;ENST00000487848	D;D;D	0.99896	-7.6;-7.6;-7.6	4.95	4.95	0.65309	Zinc finger, NHR/GATA-type (1);Zinc finger, GATA-type (4);	0.000000	0.85682	D	0.000000	D	0.99937	0.9972	H	0.99863	4.86	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.997;1.0	D	0.96055	0.9034	10	0.87932	D	0	-11.1834	13.1895	0.59702	0.0:0.0:0.8405:0.1595	.	347;361	P23769-2;P23769	.;GATA2_HUMAN	C	361;347;361	ENSP00000345681:R361C;ENSP00000400259:R347C;ENSP00000417074:R361C	ENSP00000345681:R361C	R	-	1	0	GATA2	129683414	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.275000	0.51639	2.271000	0.75665	0.591000	0.81541	CGC		0.657	GATA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356925.1	NM_032638		3	56	0	0	0	1	0	3	56					A	128200724	G	A	128200724	3	1	403	1	0	0	0	0	1	0	0	0	6254	1087	38	1	369	1	GATA2	3	128200724	Missense_Mutation	SNP	G	TCGA-VN-A88N-01A-11D-A364-08		128200724	69821706	8	19598											
FGFR1	2260	broad.mit.edu	37	chr8	38272123	38272123	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gtcaaataatgcctcgggtgCcatccacttcacaggcagtc	10	9	9	13	1	2	0	2	0	0	0	5	0	3	0	3	2	2	1	3	2	2	2			TCGA-VN-A88N-01A-11D-A364-08	TCGA-VN-A88N-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d074f30a-3b97-4e7d-a291-576c573768e9	a8f14eb8-6c49-4824-95e3-5d14cfe55729	g.chr8:38272123C>T	ENST00000447712.2	-	15	2943	c.2002G>A	c.(2002-2004)Gca>Aca	p.A668T	FGFR1_ENST00000532791.1_Missense_Mutation_p.A666T|FGFR1_ENST00000356207.5_Missense_Mutation_p.A579T|FGFR1_ENST00000397108.4_Missense_Mutation_p.A666T|FGFR1_ENST00000425967.3_Missense_Mutation_p.A699T|FGFR1_ENST00000341462.5_Missense_Mutation_p.A668T|FGFR1_ENST00000397113.2_Missense_Mutation_p.A666T|FGFR1_ENST00000397091.5_Missense_Mutation_p.A666T|FGFR1_ENST00000335922.5_Missense_Mutation_p.A658T|FGFR1_ENST00000326324.6_Missense_Mutation_p.A577T|FGFR1_ENST00000397103.1_Missense_Mutation_p.A579T	NM_001174063.1|NM_015850.3|NM_023110.2	NP_001167534.1|NP_056934.2|NP_075598.2	P11362	FGFR1_HUMAN	fibroblast growth factor receptor 1	668	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				angiogenesis (GO:0001525)|auditory receptor cell development (GO:0060117)|axon guidance (GO:0007411)|branching involved in salivary gland morphogenesis (GO:0060445)|cell maturation (GO:0048469)|cell migration (GO:0016477)|chondrocyte differentiation (GO:0002062)|chordate embryonic development (GO:0043009)|embryonic limb morphogenesis (GO:0030326)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development (GO:0035607)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inner ear morphogenesis (GO:0042472)|insulin receptor signaling pathway (GO:0008286)|lung-associated mesenchyme development (GO:0060484)|MAPK cascade (GO:0000165)|mesenchymal cell differentiation (GO:0048762)|midbrain development (GO:0030901)|middle ear morphogenesis (GO:0042474)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ induction (GO:0001759)|outer ear morphogenesis (GO:0042473)|paraxial mesoderm development (GO:0048339)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway (GO:0090080)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of phospholipase C activity (GO:0010863)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling (GO:0060665)|regulation of cell differentiation (GO:0045595)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|regulation of lateral mesodermal cell fate specification (GO:0048378)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|skeletal system morphogenesis (GO:0048705)|transcription, DNA-templated (GO:0006351)|ureteric bud development (GO:0001657)|ventricular zone neuroblast division (GO:0021847)	cytoplasmic vesicle (GO:0031410)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|fibroblast growth factor binding (GO:0017134)|fibroblast growth factor-activated receptor activity (GO:0005007)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)		FGFR1/ZNF703(2)	breast(2)|central_nervous_system(7)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(18)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2)	50	all_cancers(2;9.05e-47)|all_epithelial(2;2.64e-50)|all_lung(3;1.71e-23)|Lung NSC(2;3.61e-23)|Colorectal(12;0.000442)	Breast(189;1.48e-05)|all_lung(54;0.00354)|Lung NSC(58;0.0138)|Hepatocellular(245;0.065)	Epithelial(3;3.96e-34)|all cancers(3;3.06e-30)|BRCA - Breast invasive adenocarcinoma(5;2.28e-21)|COAD - Colon adenocarcinoma(9;0.24)		Palifermin(DB00039)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)	GCCTCGGGTGCCATCCACTTC	0.582		1	T	"BCR, FOP, ZNF198, CEP1"	"MPD, NHL"		"Pfeiffer syndrome, Kallman syndrome"																														Melanoma(146;1153 1840 21453 21841 43625)	ENST00000447712.2		1		Dom	yes		8	8p11.2-p11.1	2260	T	fibroblast growth factor receptor 1	yes	"Pfeiffer syndrome, Kallman syndrome"	L	"BCR, FOP, ZNF198, CEP1"		"MPD, NHL"	FGFR1/ZNF703(2)	0				breast(2)|central_nervous_system(7)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(18)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2)	50						c.(2002-2004)Gca>Aca		fibroblast growth factor receptor 1	Palifermin(DB00039)						58	61	60					8																	38272123		2098	4269	6367	SO:0001583	missense	2260				axon guidance|cell growth|insulin receptor signaling pathway|MAPKKK cascade|positive regulation of cell proliferation|skeletal system development	extracellular region|integral to plasma membrane|membrane fraction	ATP binding|fibroblast growth factor receptor activity|heparin binding|protein homodimerization activity	g.chr8:38272123C>T	M34185	CCDS6107.2, CCDS43730.1, CCDS43731.1, CCDS43732.1, CCDS55221.1, CCDS55222.1, CCDS55223.1	8p11.23-p11.22	2014-04-03	2008-08-01		ENSG00000077782	ENSG00000077782	2.7.10.1	"CD molecules", "Immunoglobulin superfamily / I-set domain containing"	3688	protein-coding gene	gene with protein product	"Pfeiffer syndrome"	136350	"fms-related tyrosine kinase 2"	FLT2, KAL2		2162671	Standard	NM_015850		Approved	H2, H3, H4, H5, CEK, FLG, BFGFR, N-SAM, CD331	uc011lbu.2	P11362	OTTHUMG00000147366	ENST00000447712.2:c.2002G>A	8.37:g.38272123C>T	ENSP00000400162:p.Ala668Thr					FGFR1_ENST00000532791.1_Missense_Mutation_p.A666T|FGFR1_ENST00000425967.3_Missense_Mutation_p.A699T|FGFR1_ENST00000397103.1_Missense_Mutation_p.A579T|FGFR1_ENST00000397113.2_Missense_Mutation_p.A666T|FGFR1_ENST00000356207.5_Missense_Mutation_p.A579T|FGFR1_ENST00000341462.5_Missense_Mutation_p.A668T|FGFR1_ENST00000335922.5_Missense_Mutation_p.A658T|FGFR1_ENST00000326324.6_Missense_Mutation_p.A577T|FGFR1_ENST00000397091.5_Missense_Mutation_p.A666T|FGFR1_ENST00000397108.4_Missense_Mutation_p.A666T	p.A668T	NM_001174063.1|NM_015850.3|NM_023110.2	NP_001167534.1|NP_056934.2|NP_075598.2	P11362	FGFR1_HUMAN	Epithelial(3;3.96e-34)|all cancers(3;3.06e-30)|BRCA - Breast invasive adenocarcinoma(5;2.28e-21)|COAD - Colon adenocarcinoma(9;0.24)		15	2943	-	all_cancers(2;9.05e-47)|all_epithelial(2;2.64e-50)|all_lung(3;1.71e-23)|Lung NSC(2;3.61e-23)|Colorectal(12;0.000442)	Breast(189;1.48e-05)|all_lung(54;0.00354)|Lung NSC(58;0.0138)|Hepatocellular(245;0.065)	668			Protein kinase.		A8K6T9|A8K8V5|C1KBH8|P17049|Q02063|Q02065|Q14306|Q14307|Q53H63|Q59H40|Q5BJG2|Q8N685|Q9UD50|Q9UDF0|Q9UDF1|Q9UDF2	Missense_Mutation	SNP	ENST00000447712.2	37	c.2002G>A	CCDS6107.2	.	.	.	.	.	.	.	.	.	.	C	36	5.916232	0.97099	.	.	ENSG00000077782	ENST00000397091;ENST00000425967;ENST00000447712;ENST00000341462;ENST00000532791;ENST00000397113;ENST00000356207;ENST00000335922;ENST00000326324;ENST00000397103;ENST00000397108	D;D;D;D;D;D;D;D;D;D;D	0.96396	-4.0;-4.0;-4.0;-4.0;-4.0;-4.0;-4.0;-4.0;-4.0;-4.0;-4.0	5.9	5.9	0.94986	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.99074	0.9682	H	0.98682	4.3	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.85130	0.995;0.986;0.997;0.995;0.995	D	0.98911	1.0780	10	0.87932	D	0	.	20.2704	0.98474	0.0:1.0:0.0:0.0	.	577;577;668;658;666	P11362-14;P11362-4;P11362;P11362-20;P11362-2	.;.;FGFR1_HUMAN;.;.	T	666;699;668;668;666;666;579;658;577;579;666	ENSP00000380280:A666T;ENSP00000393312:A699T;ENSP00000400162:A668T;ENSP00000340636:A668T;ENSP00000432972:A666T;ENSP00000380302:A666T;ENSP00000348537:A579T;ENSP00000337247:A658T;ENSP00000327229:A577T;ENSP00000380292:A579T;ENSP00000380297:A666T	ENSP00000327229:A577T	A	-	1	0	FGFR1	38391280	1.000000	0.71417	1.000000	0.80357	0.885000	0.51271	6.037000	0.70956	2.793000	0.96121	0.591000	0.81541	GCA		0.582	FGFR1-203	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding				3	25	0	0	0	1	0	3	25					T	38272123	C	T	38272123	3	4	403	1	0	0	0	0	1	0	0	0	5863	739	26	3	482	3	FGFR1	8	38272123	Missense_Mutation	SNP	C	TCGA-VN-A88N-01A-11D-A364-08		38272123	108091899	9	19599											
RP1	6101	broad.mit.edu	37	chr8	55540777	55540777	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atggaagaaccacggacttcTgaagaaccaggctcaataac	16	6	9	10	1	2	3	1	1	1	2	2	5	2	5	2	3	3	1	2	3	6	2			TCGA-VN-A88N-01A-11D-A364-08	TCGA-VN-A88N-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d074f30a-3b97-4e7d-a291-576c573768e9	a8f14eb8-6c49-4824-95e3-5d14cfe55729	g.chr8:55540777T>A	ENST00000220676.1	+	4	4483	c.4335T>A	c.(4333-4335)tcT>tcA	p.S1445S		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	1445					axoneme assembly (GO:0035082)|cellular response to light stimulus (GO:0071482)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|photoreceptor cell outer segment organization (GO:0035845)|phototransduction, visible light (GO:0007603)|retinal cone cell development (GO:0046549)|retinal rod cell development (GO:0046548)|visual perception (GO:0007601)	axoneme (GO:0005930)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)	microtubule binding (GO:0008017)			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			CACGGACTTCTGAAGAACCAG	0.343																																					Colon(91;1014 1389 7634 14542 40420)	ENST00000220676.1																			0				NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169						c.(4333-4335)tcT>tcA		retinitis pigmentosa 1 (autosomal dominant)							55	58	57					8																	55540777		2202	4299	6501	SO:0001819	synonymous_variant	6101				axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding	g.chr8:55540777T>A	AF146592	CCDS6160.1	8q12.1	2013-01-08				ENSG00000104237			10263	protein-coding gene	gene with protein product		603937				1783394	Standard	NM_006269		Approved	DCDC4A	uc003xsd.1	P56715		ENST00000220676.1:c.4335T>A	8.37:g.55540777T>A							p.S1445S	NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)		4	4483	+		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	1445						Silent	SNP	ENST00000220676.1	37	c.4335T>A	CCDS6160.1																																																																																				0.343	RP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378532.2	NM_006269		22	51	0	0	0	1	0	22	51					A	55540777	T	A	55540777	2	1	403	1	0	0	0	0	0	0	0	1	13532	1567	55	5		5	RP1	8	55540777	Silent	SNP	T	TCGA-VN-A88N-01A-11D-A364-08	17268654	55540777	90823245	10	19600											
GPR158	57512	broad.mit.edu	37	chr10	25887029	25887029	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cagcacttatgaccacgtgaGagaccaaacggaagagtcca	15	5	10	11	2	0	4	0	2	0	2	1	6	1	5	3	1	2	1	3	1	3	1			TCGA-VN-A88N-01A-11D-A364-08	TCGA-VN-A88N-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d074f30a-3b97-4e7d-a291-576c573768e9	a8f14eb8-6c49-4824-95e3-5d14cfe55729	g.chr10:25887029G>A	ENST00000376351.3	+	11	2833	c.2474G>A	c.(2473-2475)aGa>aAa	p.R825K	GPR158_ENST00000490549.1_3'UTR	NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158	825					protein localization to plasma membrane (GO:0072659)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						GACCACGTGAGAGACCAAACG	0.493																																						ENST00000376351.3																			0				breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						c.(2473-2475)aGa>aAa		G protein-coupled receptor 158							119	129	125					10																	25887029		2203	4300	6503	SO:0001583	missense	57512					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr10:25887029G>A	AB032962	CCDS31166.1	10p12.31	2012-08-21			ENSG00000151025	ENSG00000151025		"GPCR / Class C : Orphans"	23689	protein-coding gene	gene with protein product		614573					Standard	NM_020752		Approved	KIAA1136	uc001isj.3	Q5T848	OTTHUMG00000017832	ENST00000376351.3:c.2474G>A	10.37:g.25887029G>A	ENSP00000365529:p.Arg825Lys					GPR158_ENST00000490549.1_3'UTR	p.R825K	NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN			11	2833	+			825					Q6QR81|Q9ULT3	Missense_Mutation	SNP	ENST00000376351.3	37	c.2474G>A	CCDS31166.1	.	.	.	.	.	.	.	.	.	.	G	34	5.382961	0.95967	.	.	ENSG00000151025	ENST00000376351	T	0.63417	-0.04	5.88	5.88	0.94601	.	0.000000	0.64402	D	0.000001	T	0.75443	0.3850	M	0.68317	2.08	0.41839	D	0.990112	P	0.52316	0.952	P	0.57101	0.813	T	0.73043	-0.4107	10	0.40728	T	0.16	.	20.2381	0.98363	0.0:0.0:1.0:0.0	.	825	Q5T848	GP158_HUMAN	K	825	ENSP00000365529:R825K	ENSP00000365529:R825K	R	+	2	0	GPR158	25927035	1.000000	0.71417	0.330000	0.25442	0.919000	0.55068	6.343000	0.72986	2.779000	0.95612	0.650000	0.86243	AGA		0.493	GPR158-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047248.2	XM_166110		16	61	0	0	0	1	0	16	61					A	25887029	G	A	25887029	3	1	403	1	0	0	0	0	1	0	0	0	6663	942	33	3	2516	3	GPR158	10	25887029	Missense_Mutation	SNP	G	TCGA-VN-A88N-01A-11D-A364-08		25887029	109647718	11	19601											
CHST3	9469	broad.mit.edu	37	chr10	73765715	73765715	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgatagtttttgtcttcatcGaaaaggaaaataaaatcata	17	14	6	4	1	3	1	2	1	1	0	4	3	3	2	0	1	0	1	0	1	8	6			TCGA-VN-A88N-01A-11D-A364-08	TCGA-VN-A88N-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d074f30a-3b97-4e7d-a291-576c573768e9	a8f14eb8-6c49-4824-95e3-5d14cfe55729	g.chr10:73765715G>T	ENST00000373115.4	+	2	552	c.115G>T	c.(115-117)Gaa>Taa	p.E39*		NM_004273.4	NP_004264.2	Q7LGC8	CHST3_HUMAN	carbohydrate (chondroitin 6) sulfotransferase 3	39					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)|sulfur compound metabolic process (GO:0006790)|T cell homeostasis (GO:0043029)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	chondroitin 6-sulfotransferase activity (GO:0008459)|proteoglycan sulfotransferase activity (GO:0050698)|sulfotransferase activity (GO:0008146)	p.E39*(1)		endometrium(1)|lung(5)	6						TGTCTTCATCGAAAAGGAAAA	0.483																																						ENST00000373115.4																			1	Substitution - Nonsense(1)	p.E39*(1)	lung(1)	endometrium(1)|lung(5)	6						c.(115-117)Gaa>Taa		carbohydrate (chondroitin 6) sulfotransferase 3							175	162	166					10																	73765715		2203	4300	6503	SO:0001587	stop_gained	9469				chondroitin sulfate biosynthetic process	Golgi membrane|integral to membrane	chondroitin 6-sulfotransferase activity	g.chr10:73765715G>T	AB017915	CCDS7312.1	10q22.1	2007-03-14			ENSG00000122863	ENSG00000122863		"Sulfotransferases, membrane-bound"	1971	protein-coding gene	gene with protein product		603799				9883891, 9714738	Standard	NM_004273		Approved	C6ST, C6ST1	uc001jsn.3	Q7LGC8	OTTHUMG00000018431	ENST00000373115.4:c.115G>T	10.37:g.73765715G>T	ENSP00000362207:p.Glu39*						p.E39*	NM_004273.4	NP_004264.2	Q7LGC8	CHST3_HUMAN			2	552	+			39					O75099|Q52M30	Nonsense_Mutation	SNP	ENST00000373115.4	37	c.115G>T	CCDS7312.1	.	.	.	.	.	.	.	.	.	.	G	40	8.310891	0.98754	.	.	ENSG00000122863	ENST00000373115	.	.	.	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-16.4067	18.7265	0.91716	0.0:0.0:1.0:0.0	.	.	.	.	X	39	.	ENSP00000362207:E39X	E	+	1	0	CHST3	73435721	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.209000	0.95087	2.675000	0.91044	0.655000	0.94253	GAA		0.483	CHST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048563.1	NM_004273		4	112	1	0	0.00024832	1	0.00024832	4	112					T	73765715	G	T	73765715	4	4	403	1	0	0	0	0	0	1	0	0	3405	1059	37	5	117	5	CHST3	10	73765715	Nonsense_Mutation	SNP	G	TCGA-VN-A88N-01A-11D-A364-08	47878686	73765715	61769032	12	19602											
CTBP2	1488	broad.mit.edu	37	chr10	126682486	126682486	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atcctgccctccttgagggcTtgtgctaaggctttctcgtc	4	14	10	13	1	1	1	0	1	1	0	5	1	3	1	3	2	2	3	3	2	1	4	rs76949963	byFrequency	TCGA-VN-A88N-01A-11D-A364-08	TCGA-VN-A88N-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d074f30a-3b97-4e7d-a291-576c573768e9	a8f14eb8-6c49-4824-95e3-5d14cfe55729	g.chr10:126682486T>C	ENST00000337195.5	-	8	1248	c.849A>G	c.(847-849)caA>caG	p.Q283Q	CTBP2_ENST00000494626.2_Silent_p.Q283Q|CTBP2_ENST00000531469.1_Silent_p.Q283Q|CTBP2_ENST00000309035.6_Silent_p.Q823Q|CTBP2_ENST00000411419.2_Silent_p.Q283Q|CTBP2_ENST00000334808.6_Silent_p.Q351Q	NM_001329.2	NP_001320.1	P56545	CTBP2_HUMAN	C-terminal binding protein 2	283					negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)|viral genome replication (GO:0019079)|white fat cell differentiation (GO:0050872)	cell junction (GO:0030054)|nucleus (GO:0005634)|synapse (GO:0045202)|transcriptional repressor complex (GO:0017053)	NAD binding (GO:0051287)|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor (GO:0016616)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.173)		Colorectal(40;0.00572)|COAD - Colon adenocarcinoma(40;0.0127)|GBM - Glioblastoma multiforme(135;0.147)		CCTTGAGGGCTTGTGCTAAGG	0.617																																						ENST00000309035.6																			0				breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						c.(2467-2469)caA>caG		C-terminal binding protein 2							94	97	96					10																	126682486		2203	4300	6503	SO:0001819	synonymous_variant	1488				negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent|viral genome replication|white fat cell differentiation	cell junction|synapse|transcriptional repressor complex	NAD binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor|protein binding	g.chr10:126682486T>C	AF016507	CCDS7643.1, CCDS7644.1	10q26.13	2008-08-01			ENSG00000175029	ENSG00000175029			2495	protein-coding gene	gene with protein product		602619				9479502, 11864595	Standard	NM_022802		Approved	ribeye	uc001lie.4	P56545	OTTHUMG00000019224	ENST00000337195.5:c.849A>G	10.37:g.126682486T>C						CTBP2_ENST00000411419.2_Silent_p.Q283Q|CTBP2_ENST00000334808.6_Silent_p.Q351Q|CTBP2_ENST00000494626.2_Silent_p.Q283Q|CTBP2_ENST00000337195.5_Silent_p.Q283Q|CTBP2_ENST00000531469.1_Silent_p.Q283Q	p.Q823Q	NM_022802.2	NP_073713.2	P56545	CTBP2_HUMAN		Colorectal(40;0.00572)|COAD - Colon adenocarcinoma(40;0.0127)|GBM - Glioblastoma multiforme(135;0.147)	6	2599	-		all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.173)	283					A8K2X5|D3DRF5|O43449|Q5SQP7|Q69YI3|Q86SV0|Q9H2T8	Silent	SNP	ENST00000337195.5	37	c.2469A>G	CCDS7643.1																																																																																				0.617	CTBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050900.3	NM_001083914		4	113	0	0	0	1	0	4	113					C	126682486	T	C	126682486	2	2	403	1	0	0	0	0	0	0	0	1	3998	1606	56	4		4	CTBP2	10	126682486	Silent	SNP	T	TCGA-VN-A88N-01A-11D-A364-08	52916771	126682486	8852261	13	19603											
LRRC27	80313	broad.mit.edu	37	chr10	134165159	134165159	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttacccgacctcttgtcaccGtaccaaatggcgatccgagc	9	9	8	15	4	2	0	1	0	1	0	3	3	3	0	5	1	3	1	5	1	3	3	rs147065829		TCGA-VN-A88N-01A-11D-A364-08	TCGA-VN-A88N-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d074f30a-3b97-4e7d-a291-576c573768e9	a8f14eb8-6c49-4824-95e3-5d14cfe55729	g.chr10:134165159G>A	ENST00000368614.3	+	7	1080	c.975G>A	c.(973-975)ccG>ccA	p.P325P	LRRC27_ENST00000344079.5_Missense_Mutation_p.R357H|LRRC27_ENST00000392638.2_Missense_Mutation_p.R357H|LRRC27_ENST00000368612.1_Silent_p.P263P|LRRC27_ENST00000432555.2_Silent_p.P198P|LRRC27_ENST00000368610.3_Silent_p.P263P|LRRC27_ENST00000475747.1_3'UTR|LRRC27_ENST00000368615.3_Silent_p.P325P|LRRC27_ENST00000368613.4_Silent_p.P325P	NM_030626.2	NP_085129.1	Q9C0I9	LRC27_HUMAN	leucine rich repeat containing 27	325										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)	18		all_cancers(35;6.28e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19)		OV - Ovarian serous cystadenocarcinoma(35;9.12e-05)|Epithelial(32;0.000116)|all cancers(32;0.000145)|BRCA - Breast invasive adenocarcinoma(275;0.218)		TCTTGTCACCGTACCAAATGG	0.527																																						ENST00000392638.2																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)	18						c.(1069-1071)cGt>cAt		leucine rich repeat containing 27		G	,,HIS/ARG,	1,4405	2.1+/-5.4	0,1,2202	138	151	146		975,975,1070,975	-8.8	0	10	dbSNP_134	146	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,missense,coding-synonymous	LRRC27	NM_001143757.1,NM_001143758.1,NM_001143759.1,NM_030626.2	,,29,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,,,	325/531,325/384,357/384,325/531	134165159	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	80313							g.chr10:134165159G>A	AB051461	CCDS31316.1, CCDS44496.1	10q26.3	2013-09-20			ENSG00000148814	ENSG00000148814			29346	protein-coding gene	gene with protein product						11214970	Standard	NM_030626		Approved	KIAA1674	uc010quw.1	Q9C0I9	OTTHUMG00000019284	ENST00000368614.3:c.975G>A	10.37:g.134165159G>A						LRRC27_ENST00000368610.3_Silent_p.P263P|LRRC27_ENST00000368614.3_Silent_p.P325P|LRRC27_ENST00000368615.3_Silent_p.P325P|LRRC27_ENST00000432555.2_Silent_p.P198P|LRRC27_ENST00000368613.4_Silent_p.P325P|LRRC27_ENST00000368612.1_Silent_p.P263P|LRRC27_ENST00000344079.5_Missense_Mutation_p.R357H|LRRC27_ENST00000475747.1_3'UTR	p.R357H			Q9C0I9	LRC27_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;9.12e-05)|Epithelial(32;0.000116)|all cancers(32;0.000145)|BRCA - Breast invasive adenocarcinoma(275;0.218)	8	1265	+		all_cancers(35;6.28e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19)	0					A6NE72|A6NJB4|A6NKD3|D3DRH0|Q5SZH6|Q5SZH8|Q5SZH9|Q86XT5|Q8N7C8|Q8NA21	Missense_Mutation	SNP	ENST00000368614.3	37	c.1070G>A	CCDS31316.1	.	.	.	.	.	.	.	.	.	.	G	15.75	2.925167	0.52759	2.27E-4	0.0	ENSG00000148814	ENST00000392638;ENST00000344079	T;T	0.19394	2.15;2.15	4.41	-8.83	0.00806	.	.	.	.	.	T	0.10508	0.0257	.	.	.	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.25187	-1.0139	8	0.48119	T	0.1	1.3643	3.1131	0.06365	0.4867:0.1876:0.231:0.0947	.	357	Q9C0I9-3	.	H	357	ENSP00000376413:R357H;ENSP00000342641:R357H	ENSP00000342641:R357H	R	+	2	0	LRRC27	134015149	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.965000	0.00670	-2.911000	0.00308	-1.020000	0.02445	CGT		0.527	LRRC27-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051058.2	XM_290462		4	214	0	0	0	1	0	4	214					A	134165159	G	A	134165159	2	1	403	1	0	0	0	0	0	0	0	1	8981	1145	40	1		1	LRRC27	10	134165159	Silent	SNP	G	TCGA-VN-A88N-01A-11D-A364-08	7482673	134165159	1369588	14	19604											
HRAS	3265	broad.mit.edu	37	chr11	533874	533874	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcatggcgctgtactcctccTggccggcggtatccaggatg	5	9	14	13	3	0	0	0	0	0	0	3	1	3	1	4	5	1	4	4	5	2	2	rs121913233		TCGA-VN-A88N-01A-11D-A364-08	TCGA-VN-A88N-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d074f30a-3b97-4e7d-a291-576c573768e9	a8f14eb8-6c49-4824-95e3-5d14cfe55729	g.chr11:533874T>C	ENST00000451590.1	-	3	369	c.182A>G	c.(181-183)cAg>cGg	p.Q61R	HRAS_ENST00000468682.2_5'UTR|HRAS_ENST00000311189.7_Missense_Mutation_p.Q61R|HRAS_ENST00000397596.2_Missense_Mutation_p.Q61R|HRAS_ENST00000417302.1_Missense_Mutation_p.Q61R|HRAS_ENST00000397594.1_Missense_Mutation_p.Q61R	NM_001130442.1|NM_005343.2	NP_001123914.1|NP_005334.1	P01112	RASH_HUMAN	Harvey rat sarcoma viral oncogene homolog	61			Q -> K (in follicular thyroid carcinoma samples; somatic mutation; increases transformation of cultured cell lines; dbSNP:rs28933406). {ECO:0000269|PubMed:12727991}.|Q -> L (in melanoma; strongly reduced GTP hydrolysis in the presence of RAF1; increases transformation of cultured cell lines).		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular senescence (GO:0090398)|chemotaxis (GO:0006935)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|intrinsic apoptotic signaling pathway (GO:0097193)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|mitotic cell cycle checkpoint (GO:0007093)|negative regulation of cell differentiation (GO:0045596)|negative regulation of cell proliferation (GO:0008285)|negative regulation of gene expression (GO:0010629)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of Rho GTPase activity (GO:0034259)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of JNK cascade (GO:0046330)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of miRNA metabolic process (GO:2000630)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rac protein signal transduction (GO:0035022)|positive regulation of ruffle assembly (GO:1900029)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of wound healing (GO:0090303)|protein heterooligomerization (GO:0051291)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|protein C-terminus binding (GO:0008022)	p.Q61R(136)|p.Q61L(117)|p.Q61P(3)		adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225)	901		all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GTACTCCTCCTGGCCGGCGGT	0.597	Q61L(KNS62_LUNG)|Q61L(KYSE30_OESOPHAGUS)|Q61L(NCIH1915_LUNG)	6	Mis		"infrequent sarcomas, rare other types"	"rhadomyosarcoma, ganglioneuroblastoma, bladder"			Costello syndrome	HNSCC(11;0.0054)																												ENST00000417302.1	Q61L(KNS62_LUNG)|Q61L(KYSE30_OESOPHAGUS)|Q61L(NCIH1915_LUNG)	6	yes	Dom	yes	Costello syndrome	11	11p15.5	3265	Mis	v-Ha-ras Harvey rat sarcoma viral oncogene homolog			"E, L, M"		"rhadomyosarcoma, ganglioneuroblastoma, bladder"	"infrequent sarcomas, rare other types"		256	Substitution - Missense(256)	p.Q61R(136)|p.Q61L(117)|p.Q61P(3)	skin(70)|thyroid(58)|urinary_tract(53)|prostate(23)|upper_aerodigestive_tract(22)|lung(11)|salivary_gland(6)|haematopoietic_and_lymphoid_tissue(5)|testis(3)|liver(2)|cervix(1)|penis(1)|oesophagus(1)	adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225)	901						c.(181-183)cAg>cGg		Harvey rat sarcoma viral oncogene homolog	Sulindac(DB00605)						117	102	107					11																	533874		2203	4300	6503	SO:0001583	missense	3265	Costello syndrome	Familial Cancer Database	incl.: Facio-Cutaneous-Skeletal syndrome	activation of MAPKK activity|axon guidance|blood coagulation|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of DNA replication|positive regulation of epithelial cell proliferation|Ras protein signal transduction|synaptic transmission	cytosol|Golgi membrane|plasma membrane	GTP binding|GTPase activity|protein C-terminus binding	g.chr11:533874T>C	AJ437024	CCDS7698.1, CCDS7699.1	11p15.5	2014-09-17	2013-07-08		ENSG00000174775	ENSG00000174775			5173	protein-coding gene	gene with protein product		190020	"v-Ha-ras Harvey rat sarcoma viral oncogene homolog"	HRAS1			Standard	NM_176795		Approved		uc010qvx.2	P01112	OTTHUMG00000131919	ENST00000451590.1:c.182A>G	11.37:g.533874T>C	ENSP00000407586:p.Gln61Arg	HNSCC(11;0.0054)				HRAS_ENST00000468682.2_5'UTR|HRAS_ENST00000397594.1_Missense_Mutation_p.Q61R|HRAS_ENST00000397596.2_Missense_Mutation_p.Q61R|HRAS_ENST00000451590.1_Missense_Mutation_p.Q61R|HRAS_ENST00000311189.7_Missense_Mutation_p.Q61R	p.Q61R	NM_176795.3	NP_789765.1	P01112	RASH_HUMAN		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)	3	369	-		all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)	61		Q -> K (in follicular thyroid carcinoma samples; somatic mutation; increases transformation of cultured cell lines; dbSNP:rs28933406).|Q -> L (in melanoma; strongly reduced GTP hydrolysis in the presence of RAF1; increases transformation of cultured cell lines).			B5BUA0|Q14080|Q6FHV9|Q9BR65|Q9UCE2	Missense_Mutation	SNP	ENST00000451590.1	37	c.182A>G	CCDS7698.1	.	.	.	.	.	.	.	.	.	.	T	14.48	2.546606	0.45383	.	.	ENSG00000174775	ENST00000397594;ENST00000397596;ENST00000451590;ENST00000417302;ENST00000311189	D;D;D;D;D	0.83673	-1.75;-1.75;-1.75;-1.75;-1.75	3.64	3.64	0.41730	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.85613	0.5737	M	0.90870	3.155	0.80722	D	1	B;B	0.21071	0.051;0.008	B;B	0.22152	0.022;0.038	D	0.85970	0.1476	10	0.66056	D	0.02	.	11.8872	0.52608	0.0:0.0:0.0:1.0	.	61;61	P01112-2;P01112	.;RASH_HUMAN	R	61	ENSP00000380722:Q61R;ENSP00000380723:Q61R;ENSP00000407586:Q61R;ENSP00000388246:Q61R;ENSP00000309845:Q61R	ENSP00000309845:Q61R	Q	-	2	0	HRAS	523874	1.000000	0.71417	0.985000	0.45067	0.482000	0.33219	7.727000	0.84838	1.662000	0.50781	0.459000	0.35465	CAG		0.597	HRAS-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259403.2	NM_176795		26	54	0	0	0	1	0	26	54					C	533874	T	C	533874	3	2	403	1	0	0	0	0	1	0	0	0	7348	1580	55	4	466	4	HRAS	11	533874	Missense_Mutation	SNP	T	TCGA-VN-A88N-01A-11D-A364-08		533874	134472642	15	19605											
SBF2	81846	broad.mit.edu	37	chr11	9864259	9864259	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttcttcagtaaatattgccGcccaattgtcattttccctg	8	16	5	12	1	3	0	2	0	1	0	4	0	4	0	3	0	1	1	3	0	4	8	rs536949808		TCGA-VN-A88N-01A-11D-A364-08	TCGA-VN-A88N-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d074f30a-3b97-4e7d-a291-576c573768e9	a8f14eb8-6c49-4824-95e3-5d14cfe55729	g.chr11:9864259G>A	ENST00000256190.8	-	25	3306	c.3169C>T	c.(3169-3171)Cgg>Tgg	p.R1057W	RNU7-28P_ENST00000516759.1_RNA|RP11-1H15.2_ENST00000533659.1_RNA	NM_030962.3	NP_112224.1	Q86WG5	MTMRD_HUMAN	SET binding factor 2	1057					cell death (GO:0008219)|myelination (GO:0042552)|positive regulation of Rab GTPase activity (GO:0032851)|protein tetramerization (GO:0051262)	membrane (GO:0016020)|vacuolar membrane (GO:0005774)	phosphatase activity (GO:0016791)|phosphatase regulator activity (GO:0019208)|phosphatidylinositol binding (GO:0035091)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(4)|endometrium(8)|kidney(2)|large_intestine(8)|lung(16)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48				all cancers(16;2.88e-11)|Epithelial(150;3.61e-10)|BRCA - Breast invasive adenocarcinoma(625;0.00887)		AAATATTGCCGCCCAATTGTC	0.368													G|||	1	0.000199681	8e-04	0	5008	,	,		19760	0		0	False		,,,				2504	0					ENST00000256190.8																			0				breast(4)|endometrium(8)|kidney(2)|large_intestine(8)|lung(16)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						c.(3169-3171)Cgg>Tgg		SET binding factor 2							162	135	144					11																	9864259		2201	4294	6495	SO:0001583	missense	81846				myelination	cytoplasm|membrane	phosphatase activity|protein binding	g.chr11:9864259G>A	AB051553	CCDS31427.1	11p15.3	2014-09-17	2004-11-12	2004-11-12	ENSG00000133812	ENSG00000133812		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins", "DENN/MADD domain containing", "Pleckstrin homology (PH) domain containing"	2135	protein-coding gene	gene with protein product	"myotubularin related 13"	607697	"Charcot-Marie-Tooth neuropathy 4B2 (autosomal recessive, with myelin outfolding)", "DENN/MADD domain containing 7B"	CMT4B2		10644431	Standard	NM_030962		Approved	KIAA1766, MTMR13, DENND7B	uc001mib.2	Q86WG5	OTTHUMG00000165890	ENST00000256190.8:c.3169C>T	11.37:g.9864259G>A	ENSP00000256190:p.Arg1057Trp					RP11-1H15.2_ENST00000533659.1_RNA	p.R1057W	NM_030962.3	NP_112224.1	Q86WG5	MTMRD_HUMAN		all cancers(16;2.88e-11)|Epithelial(150;3.61e-10)|BRCA - Breast invasive adenocarcinoma(625;0.00887)	25	3306	-			1057					Q3MJF0|Q68DQ3|Q6P459|Q6PJD1|Q7Z325|Q7Z621|Q86VE2|Q96FE2|Q9C097	Missense_Mutation	SNP	ENST00000256190.8	37	c.3169C>T	CCDS31427.1	.	.	.	.	.	.	.	.	.	.	G	19.67	3.870115	0.72065	.	.	ENSG00000133812	ENST00000256190	D	0.87887	-2.31	5.48	4.54	0.55810	.	0.169697	0.51477	D	0.000089	D	0.91794	0.7404	L	0.59436	1.845	0.80722	D	1	D	0.89917	1.0	D	0.76071	0.987	D	0.92538	0.6039	10	0.87932	D	0	.	15.1899	0.73035	0.0:0.0:0.8538:0.1462	.	1057	Q86WG5	MTMRD_HUMAN	W	1057	ENSP00000256190:R1057W	ENSP00000256190:R1057W	R	-	1	2	SBF2	9820835	1.000000	0.71417	0.994000	0.49952	0.703000	0.40648	2.868000	0.48436	1.254000	0.44035	0.585000	0.79938	CGG		0.368	SBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386911.2	NM_030962		4	96	0	0	0	1	0	4	96					A	9864259	G	A	9864259	3	1	403	1	0	0	0	0	1	0	0	0	13859	1086	38	1	2444	1	SBF2	11	9864259	Missense_Mutation	SNP	G	TCGA-VN-A88N-01A-11D-A364-08	9330385	9864259	125142257	16	19606											
C11orf41	25758	broad.mit.edu	37	chr11	33581437	33581437	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gggattctacctcacctatcCgccgctaaccattgctgaac	9	10	7	15	2	2	1	1	1	1	0	3	2	3	2	5	1	4	2	5	1	4	5			TCGA-VN-A88N-01A-11D-A364-08	TCGA-VN-A88N-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d074f30a-3b97-4e7d-a291-576c573768e9	a8f14eb8-6c49-4824-95e3-5d14cfe55729	g.chr11:33581437C>T	ENST00000321505.4	+	6	3287	c.3107C>T	c.(3106-3108)cCg>cTg	p.P1036L	KIAA1549L_ENST00000389726.3_Missense_Mutation_p.P1042L|KIAA1549L_ENST00000265654.5_Missense_Mutation_p.P1042L			Q6ZVL6	K154L_HUMAN	KIAA1549-like	1036						integral component of membrane (GO:0016021)		p.P1042L(1)									CTCACCTATCCGCCGCTAACC	0.562																																						ENST00000321505.4																			1	Substitution - Missense(1)	p.P1042L(1)	NS(1)								c.(3106-3108)cCg>cTg		KIAA1549-like							138	142	141					11																	33581437		2086	4215	6301	SO:0001583	missense	25758							g.chr11:33581437C>T	U10991	CCDS44565.1, CCDS44565.2	11p13	2012-08-09	2012-08-09	2012-08-09	ENSG00000110427	ENSG00000110427			24836	protein-coding gene	gene with protein product		612297	"chromosome 11 open reading frame 69", "chromosome 11 open reading frame 41"	C11orf69, C11orf41			Standard	NM_012194		Approved	G2, MGC34830	uc021qfs.1	Q6ZVL6	OTTHUMG00000150410	ENST00000321505.4:c.3107C>T	11.37:g.33581437C>T	ENSP00000315295:p.Pro1036Leu					KIAA1549L_ENST00000389726.3_Missense_Mutation_p.P1042L|KIAA1549L_ENST00000265654.5_Missense_Mutation_p.P1042L	p.P1036L							6	3287	+								B0QYU0	Missense_Mutation	SNP	ENST00000321505.4	37	c.3107C>T	CCDS44565.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.70|17.70	3.454276|3.454276	0.63290|0.63290	.|.	.|.	ENSG00000110427|ENSG00000110427	ENST00000321505;ENST00000389726;ENST00000265654;ENST00000536568|ENST00000526400	.|.	.|.	.|.	5.45|5.45	4.53|4.53	0.55603|0.55603	.|.	0.046701|.	0.85682|.	N|.	0.000000|.	T|T	0.75932|0.75932	0.3917|0.3917	M|M	0.82056|0.82056	2.57|2.57	0.53005|0.53005	D|D	0.999961|0.999961	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.97110|.	1.0;1.0|.	T|T	0.78016|0.78016	-0.2369|-0.2369	9|5	0.87932|.	D|.	0|.	-20.585|-20.585	14.4357|14.4357	0.67279|0.67279	0.0:0.9286:0.0:0.0714|0.0:0.9286:0.0:0.0714	.|.	1042;1042|.	E9PAT2;Q6ZVL6-2|.	.;.|.	L|C	1036;1042;1042;875|434	.|.	ENSP00000265654:P1042L|.	P|R	+|+	2|1	0|0	C11orf41|C11orf41	33538013|33538013	1.000000|1.000000	0.71417|0.71417	0.990000|0.990000	0.47175|0.47175	0.082000|0.082000	0.17680|0.17680	7.430000|7.430000	0.80321|0.80321	1.427000|1.427000	0.47276|0.47276	0.573000|0.573000	0.79308|0.79308	CCG|CGC		0.562	KIAA1549L-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317998.1	NM_012194		4	203	0	0	0	1	0	4	203					T	33581437	C	T	33581437	3	4	403	1	0	0	0	0	1	0	0	0	1640	652	23	2	3147	2	C11orf41	11	33581437	Missense_Mutation	SNP	C	TCGA-VN-A88N-01A-11D-A364-08	23717178	33581437	101425079	17	19607											
SPRYD5	84767	broad.mit.edu	37	chr11	55658642	55658642	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagcctgaaagagccaataGtcatatcttcctgtgtggag	11	10	11	9	0	2	2	1	1	1	1	3	3	3	3	3	1	2	1	3	1	4	3			TCGA-VN-A88N-01A-11D-A364-08	TCGA-VN-A88N-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d074f30a-3b97-4e7d-a291-576c573768e9	a8f14eb8-6c49-4824-95e3-5d14cfe55729	g.chr11:55658642G>C	ENST00000449290.2	+	7	985	c.893G>C	c.(892-894)aGt>aCt	p.S298T	TRIM51_ENST00000244891.3_Missense_Mutation_p.S155T	NM_032681.3	NP_116070.2	Q9BSJ1	TRI51_HUMAN	tripartite motif-containing 51	298	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.					intracellular (GO:0005622)	zinc ion binding (GO:0008270)										AGAGCCAATAGTCATATCTTC	0.333																																						ENST00000449290.2																			0											c.(892-894)aGt>aCt		tripartite motif-containing 51							69	74	72					11																	55658642		2053	3905	5958	SO:0001583	missense	84767					intracellular	zinc ion binding	g.chr11:55658642G>C	BC005014		11p11	2013-01-09	2012-05-18	2012-05-18	ENSG00000124900	ENSG00000124900		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	19023	protein-coding gene	gene with protein product			"SPRY domain containing 5"	SPRYD5			Standard	NM_032681		Approved	TRIM51A	uc010rip.2	Q9BSJ1	OTTHUMG00000156437	ENST00000449290.2:c.893G>C	11.37:g.55658642G>C	ENSP00000395086:p.Ser298Thr					TRIM51_ENST00000244891.3_Missense_Mutation_p.S155T	p.S298T	NM_032681.3	NP_116070.2	Q9BSJ1	SPRY5_HUMAN			7	985	+			298			B30.2/SPRY.		A6NMG2	Missense_Mutation	SNP	ENST00000449290.2	37	c.893G>C		.	.	.	.	.	.	.	.	.	.	.	2.232	-0.375934	0.05034	.	.	ENSG00000124900	ENST00000449290;ENST00000244891	T;T	0.04654	3.58;3.58	0.892	0.892	0.19230	Concanavalin A-like lectin/glucanase (1);Butyrophylin-like (1);B30.2/SPRY domain (1);	.	.	.	.	T	0.07773	0.0195	M	0.86028	2.79	0.20196	N	0.999927	B	0.16396	0.017	B	0.16289	0.015	T	0.39781	-0.9597	9	0.21014	T	0.42	.	5.4053	0.16318	0.0:0.0:1.0:0.0	.	298	Q9BSJ1	SPRY5_HUMAN	T	298;155	ENSP00000395086:S298T;ENSP00000244891:S155T	ENSP00000244891:S155T	S	+	2	0	SPRYD5	55415218	0.127000	0.22367	0.391000	0.26233	0.447000	0.32167	0.868000	0.27982	0.159000	0.19401	0.162000	0.16502	AGT		0.333	TRIM51-004	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000391522.1	NM_032681		28	45	0	0	0	1	0	28	45					C	55658642	G	C	55658642	3	2	403	1	0	0	0	0	1	0	0	0	15110	1029	36	5	915	5	SPRYD5	11	55658642	Missense_Mutation	SNP	G	TCGA-VN-A88N-01A-11D-A364-08	22077205	55658642	79347874	18	19608											
CACNA1C	775	broad.mit.edu	37	chr12	2566835	2566835	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaggcgctgagggccttccgCgtgctgcgccccctgcggct	3	7	15	16	5	0	1	0	1	0	0	1	1	1	1	4	3	3	3	4	3	1	1	rs527755968		TCGA-VN-A88N-01A-11D-A364-08	TCGA-VN-A88N-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d074f30a-3b97-4e7d-a291-576c573768e9	a8f14eb8-6c49-4824-95e3-5d14cfe55729	g.chr12:2566835C>T	ENST00000347598.4	+	5	720	c.720C>T	c.(718-720)cgC>cgT	p.R240R	CACNA1C_ENST00000480911.1_Silent_p.R240R|CACNA1C_ENST00000399603.1_Silent_p.R240R|CACNA1C_ENST00000335762.5_Silent_p.R240R|CACNA1C_ENST00000399629.1_Silent_p.R240R|CACNA1C_ENST00000399638.1_Silent_p.R240R|CACNA1C_ENST00000399655.1_Silent_p.R240R|CACNA1C_ENST00000327702.7_Silent_p.R240R|CACNA1C_ENST00000399597.1_Silent_p.R240R|CACNA1C_ENST00000399634.1_Silent_p.R240R|CACNA1C_ENST00000399641.1_Silent_p.R240R|CACNA1C_ENST00000399617.1_Silent_p.R240R|CACNA1C_ENST00000406454.3_Silent_p.R240R|CACNA1C_ENST00000399649.1_Silent_p.R240R|CACNA1C_ENST00000399621.1_Silent_p.R240R|CACNA1C_ENST00000399644.1_Silent_p.R240R|CACNA1C_ENST00000399591.1_Silent_p.R240R|CACNA1C_ENST00000399601.1_Silent_p.R240R|CACNA1C_ENST00000402845.3_Silent_p.R240R|CACNA1C_ENST00000344100.3_Silent_p.R240R|CACNA1C_ENST00000399606.1_Silent_p.R240R|CACNA1C_ENST00000399637.1_Silent_p.R240R|CACNA1C_ENST00000399595.1_Silent_p.R240R	NM_001129827.1|NM_199460.2	NP_001123299.1|NP_955630.2	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	240					adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport into cytosol (GO:0060402)|calcium ion-dependent exocytosis (GO:0017156)|calcium-mediated signaling using extracellular calcium source (GO:0035585)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|energy reserve metabolic process (GO:0006112)|glucose homeostasis (GO:0042593)|growth hormone secretion (GO:0030252)|insulin secretion (GO:0030073)|membrane depolarization during action potential (GO:0086010)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of insulin secretion (GO:0050796)|regulation of organ growth (GO:0046620)|regulation of vasoconstriction (GO:0019229)|small molecule metabolic process (GO:0044281)|smooth muscle contraction involved in micturition (GO:0060083)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	caveolar macromolecular signaling complex (GO:0002095)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|calmodulin binding (GO:0005516)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Drotaverine(DB06751)|Felodipine(DB01023)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	GGGCCTTCCGCGTGCTGCGCC	0.552																																						ENST00000399655.1																			0				NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132						c.(718-720)cgC>cgT		calcium channel, voltage-dependent, L type, alpha 1C subunit	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)						161	180	174					12																	2566835		2121	4231	6352	SO:0001819	synonymous_variant	775				axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity	g.chr12:2566835C>T	AF070589	CCDS44787.1, CCDS44788.1, CCDS44789.1, CCDS44790.1, CCDS44791.1, CCDS44792.1, CCDS44793.1, CCDS44794.1, CCDS44795.1, CCDS44796.1, CCDS44797.1, CCDS44798.1, CCDS44799.1, CCDS44800.1, CCDS44801.1, CCDS53733.1, CCDS53734.1, CCDS53735.1, CCDS53736.1	12p13.3	2014-09-17			ENSG00000151067	ENSG00000151067		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1390	protein-coding gene	gene with protein product		114205		CCHL1A1, CACNL1A1		1650913, 16382099	Standard	NM_001129832		Approved	Cav1.2, CACH2, CACN2, TS, LQT8	uc001qjy.3	Q13936	OTTHUMG00000150243	ENST00000347598.4:c.720C>T	12.37:g.2566835C>T						CACNA1C_ENST00000399603.1_Silent_p.R240R|CACNA1C_ENST00000399595.1_Silent_p.R240R|CACNA1C_ENST00000347598.4_Silent_p.R240R|CACNA1C_ENST00000399644.1_Silent_p.R240R|CACNA1C_ENST00000327702.7_Silent_p.R240R|CACNA1C_ENST00000399597.1_Silent_p.R240R|CACNA1C_ENST00000399649.1_Silent_p.R240R|CACNA1C_ENST00000406454.3_Silent_p.R240R|CACNA1C_ENST00000335762.5_Silent_p.R240R|CACNA1C_ENST00000402845.3_Silent_p.R240R|CACNA1C_ENST00000399641.1_Silent_p.R240R|CACNA1C_ENST00000480911.1_Silent_p.R240R|CACNA1C_ENST00000399606.1_Silent_p.R240R|CACNA1C_ENST00000399617.1_Silent_p.R240R|CACNA1C_ENST00000399629.1_Silent_p.R240R|CACNA1C_ENST00000399638.1_Silent_p.R240R|CACNA1C_ENST00000399591.1_Silent_p.R240R|CACNA1C_ENST00000399621.1_Silent_p.R240R|CACNA1C_ENST00000344100.3_Silent_p.R240R|CACNA1C_ENST00000399637.1_Silent_p.R240R|CACNA1C_ENST00000399601.1_Silent_p.R240R|CACNA1C_ENST00000399634.1_Silent_p.R240R	p.R240R	NM_000719.6|NM_001129829.1|NM_001129834.1	NP_000710.5|NP_001123301.1|NP_001123306.1	Q13936	CAC1C_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	5	985	+			240					B2RUT3|E9PDJ0|Q13917|Q13918|Q13919|Q13920|Q13921|Q13922|Q13923|Q13924|Q13925|Q13926|Q13927|Q13928|Q13929|Q13930|Q13932|Q13933|Q14743|Q14744|Q15877|Q4VMI7|Q4VMI8|Q4VMI9|Q6PKM7|Q8N6C0|Q99025|Q99241|Q99875	Silent	SNP	ENST00000347598.4	37	c.720C>T	CCDS44788.1																																																																																				0.552	CACNA1C-017	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317035.1	NM_000719		20	217	0	0	0	1	0	20	217					T	2566835	C	T	2566835	2	4	403	1	0	0	0	0	0	0	0	1	2540	755	27	1		1	CACNA1C	12	2566835	Silent	SNP	C	TCGA-VN-A88N-01A-11D-A364-08		2566835	131285060	19	19609											
BRCA2	675	broad.mit.edu	37	chr13	32915060	32915060	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aacaggcttcacctaaaaacGtaaaaatggaaattggtaaa	20	8	7	6	1	1	0	1	0	0	0	1	1	1	1	1	3	2	3	1	3	10	5	rs80358888		TCGA-VN-A88N-01A-11D-A364-08	TCGA-VN-A88N-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d074f30a-3b97-4e7d-a291-576c573768e9	a8f14eb8-6c49-4824-95e3-5d14cfe55729	g.chr13:32915060G>A	ENST00000380152.3	+	11	6801	c.6568G>A	c.(6568-6570)Gta>Ata	p.V2190I	BRCA2_ENST00000544455.1_Missense_Mutation_p.V2190I			P51587	BRCA2_HUMAN	breast cancer 2, early onset	2190					brain development (GO:0007420)|cell aging (GO:0007569)|centrosome duplication (GO:0051298)|cytokinesis (GO:0000910)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|female gonad development (GO:0008585)|hemopoiesis (GO:0030097)|histone H3 acetylation (GO:0043966)|histone H4 acetylation (GO:0043967)|inner cell mass cell proliferation (GO:0001833)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|male meiosis I (GO:0007141)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|nucleotide-excision repair (GO:0006289)|oocyte maturation (GO:0001556)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cytokinesis (GO:0032465)|replication fork protection (GO:0048478)|response to gamma radiation (GO:0010332)|response to UV-C (GO:0010225)|response to X-ray (GO:0010165)|spermatogenesis (GO:0007283)	BRCA2-MAGE-D1 complex (GO:0033593)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)|secretory granule (GO:0030141)	gamma-tubulin binding (GO:0043015)|H3 histone acetyltransferase activity (GO:0010484)|H4 histone acetyltransferase activity (GO:0010485)|protease binding (GO:0002020)|single-stranded DNA binding (GO:0003697)			NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		ACCTAAAAACGTAAAAATGGA	0.323			"D, Mis, N, F, S"		"breast, ovarian, pancreatic"	"breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)																											Esophageal Squamous(138;838 1285 7957 30353 30468 36915 49332)	ENST00000544455.1			yes	Rec	yes	Hereditary breast/ovarian cancer	13	13q12	675	"D, Mis, N, F, S"	familial breast/ovarian cancer gene 2			"L, E"		"breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"	"breast, ovarian, pancreatic"		0				NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183						c.(6568-6570)Gta>Ata	Homologous recombination	breast cancer 2, early onset							51	54	53					13																	32915060		2199	4300	6499	SO:0001583	missense	675	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	Familial Cancer Database	incl.: Hereditary Pancreatic Adenocarcinoma, Insulin-Dependent Diabetes Mellitus - Exocrine Insufficiency - Familial Pancreatic Cancer, PNCA1;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;HPC; ;FANCD1;Pancytopenia Dysmelia, FA (several complementation groups)	cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding	g.chr13:32915060G>A	U43746	CCDS9344.1	13q12-q13	2014-09-17	2003-10-14		ENSG00000139618	ENSG00000139618		"Fanconi anemia, complementation groups"	1101	protein-coding gene	gene with protein product	"BRCA1/BRCA2-containing complex, subunit 2"	600185	"Fanconi anemia, complementation group D1"	FANCD1, FACD, FANCD		8091231, 7581463, 15057823	Standard	NM_000059		Approved	FAD, FAD1, BRCC2	uc001uub.1	P51587	OTTHUMG00000017411	ENST00000380152.3:c.6568G>A	13.37:g.32915060G>A	ENSP00000369497:p.Val2190Ile	TCGA Ovarian(8;0.087)				BRCA2_ENST00000380152.3_Missense_Mutation_p.V2190I	p.V2190I	NM_000059.3	NP_000050.2	P51587	BRCA2_HUMAN		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)	11	6795	+		Lung SC(185;0.0262)	2190					O00183|O15008|Q13879|Q5TBJ7	Missense_Mutation	SNP	ENST00000380152.3	37	c.6568G>A	CCDS9344.1	.	.	.	.	.	.	.	.	.	.	G	0.003	-2.549584	0.00140	.	.	ENSG00000139618	ENST00000380152;ENST00000544455	T;T	0.74315	-0.83;-0.83	4.91	-8.34	0.00988	.	1.988490	0.01876	N	0.037549	T	0.36717	0.0977	N	0.00972	-1.085	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.46162	-0.9211	10	0.07990	T	0.79	.	6.2602	0.20895	0.3256:0.0:0.3956:0.2788	.	2190	P51587	BRCA2_HUMAN	I	2190	ENSP00000369497:V2190I;ENSP00000439902:V2190I	ENSP00000369497:V2190I	V	+	1	0	BRCA2	31813060	0.000000	0.05858	0.000000	0.03702	0.021000	0.10359	-0.118000	0.10692	-1.392000	0.02082	-0.423000	0.05987	GTA		0.323	BRCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046000.2	NM_000059		3	43	0	0	0	1	0	3	43					A	32915060	G	A	32915060	3	1	403	1	0	0	0	0	1	0	0	0	1499	1145	40	1	6606	1	BRCA2	13	32915060	Missense_Mutation	SNP	G	TCGA-VN-A88N-01A-11D-A364-08		32915060	82254818	20	19610											
OR4N4	283694	broad.mit.edu	37	chr15	22382965	22382965	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tccaggtggtcctcatcctcCgcttgcctttttgtggccca	3	14	9	15	1	1	0	1	0	0	0	5	0	5	0	6	3	1	1	6	3	0	3			TCGA-VN-A88N-01A-11D-A364-08	TCGA-VN-A88N-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d074f30a-3b97-4e7d-a291-576c573768e9	a8f14eb8-6c49-4824-95e3-5d14cfe55729	g.chr15:22382965C>T	ENST00000328795.4	+	1	584	c.493C>T	c.(493-495)Cgc>Tgc	p.R165C	RP11-69H14.6_ENST00000558896.1_RNA	NM_001005241.2	NP_001005241.2	Q8N0Y3	OR4N4_HUMAN	olfactory receptor, family 4, subfamily N, member 4	165						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R165S(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(19)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	40		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		CCTCATCCTCCGCTTGCCTTT	0.517																																						ENST00000328795.4																			1	Substitution - Missense(1)	p.R165S(1)	lung(1)	breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(19)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	40						c.(493-495)Cgc>Tgc		olfactory receptor, family 4, subfamily N, member 4							88	74	79					15																	22382965		2185	4255	6440	SO:0001583	missense	283694				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr15:22382965C>T	AI018459	CCDS32173.1	15q11.2	2012-08-09				ENSG00000183706		"GPCR / Class A : Olfactory receptors"	15375	protein-coding gene	gene with protein product							Standard	NM_001005241		Approved		uc010tzv.2	Q8N0Y3		ENST00000328795.4:c.493C>T	15.37:g.22382965C>T	ENSP00000332500:p.Arg165Cys					RP11-69H14.6_ENST00000558896.1_RNA	p.R165C	NM_001005241.2	NP_001005241.2	Q8N0Y3	OR4N4_HUMAN	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)	1	584	+		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	165					Q6IEY3|Q6IF56	Missense_Mutation	SNP	ENST00000328795.4	37	c.493C>T	CCDS32173.1	.	.	.	.	.	.	.	.	.	.	.	2.509	-0.313508	0.05422	.	.	ENSG00000183706	ENST00000328795	T	0.00188	8.59	3.37	2.4	0.29515	GPCR, rhodopsin-like superfamily (1);	0.132210	0.35151	N	0.003417	T	0.00178	0.0005	L	0.46157	1.445	0.09310	N	1	B	0.22800	0.075	B	0.24269	0.052	T	0.31861	-0.9928	10	0.54805	T	0.06	-0.1645	8.0468	0.30553	0.4391:0.5609:0.0:0.0	.	165	Q8N0Y3	OR4N4_HUMAN	C	165	ENSP00000332500:R165C	ENSP00000332500:R165C	R	+	1	0	OR4N4	19884329	0.000000	0.05858	0.956000	0.39512	0.268000	0.26511	-1.328000	0.02680	0.689000	0.31550	0.404000	0.27445	CGC		0.517	OR4N4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414922.1			5	160	0	0	0	1	0	5	160					T	22382965	C	T	22382965	3	4	403	1	0	0	0	0	1	0	0	0	11078	652	23	2	495	2	OR4N4	15	22382965	Missense_Mutation	SNP	C	TCGA-VN-A88N-01A-11D-A364-08		22382965	80148427	21	19611											
RYR3	6263	broad.mit.edu	37	chr15	33855189	33855189	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acaagacgccaaaacttcccGcctgggacctctaaaaagaa	16	5	7	13	2	1	2	0	0	1	2	2	3	2	3	4	1	1	0	4	1	7	2			TCGA-VN-A88N-01A-11D-A364-08	TCGA-VN-A88N-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d074f30a-3b97-4e7d-a291-576c573768e9	a8f14eb8-6c49-4824-95e3-5d14cfe55729	g.chr15:33855189G>A	ENST00000389232.4	+	11	1194	c.1124G>A	c.(1123-1125)cGc>cAc	p.R375H	RYR3_ENST00000415757.3_Missense_Mutation_p.R375H	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	375	MIR 5. {ECO:0000255|PROSITE- ProRule:PRU00131}.				calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)	p.R375H(1)		NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		AAAACTTCCCGCCTGGGACCT	0.448																																						ENST00000389232.4																			1	Substitution - Missense(1)	p.R375H(1)	endometrium(1)	NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311						c.(1123-1125)cGc>cAc		ryanodine receptor 3							117	116	117					15																	33855189		1859	4092	5951	SO:0001583	missense	6263				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr15:33855189G>A		CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"Ion channels / Ryanodine receptors", "EF-hand domain containing"	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.1124G>A	15.37:g.33855189G>A	ENSP00000373884:p.Arg375His					RYR3_ENST00000415757.3_Missense_Mutation_p.R375H	p.R375H	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)	11	1194	+		all_lung(180;7.18e-09)	375			MIR 5.		O15175|Q15412	Missense_Mutation	SNP	ENST00000389232.4	37	c.1124G>A	CCDS45210.1	.	.	.	.	.	.	.	.	.	.	G	29.9	5.046610	0.93740	.	.	ENSG00000198838	ENST00000389232;ENST00000415757;ENST00000361728	D;D	0.91521	-2.86;-2.86	5.37	5.37	0.77165	MIR motif (1);MIR (2);	0.000000	0.85682	D	0.000000	D	0.95046	0.8396	M	0.71036	2.16	0.80722	D	1	D;B	0.89917	1.0;0.119	D;B	0.83275	0.996;0.019	D	0.94863	0.8023	10	0.62326	D	0.03	.	18.8974	0.92429	0.0:0.0:1.0:0.0	.	375;375	Q15413-2;Q15413	.;RYR3_HUMAN	H	375	ENSP00000373884:R375H;ENSP00000399610:R375H	ENSP00000354735:R375H	R	+	2	0	RYR3	31642481	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.491000	0.97954	2.804000	0.96469	0.655000	0.94253	CGC		0.448	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1			34	53	0	0	0	1	0	34	53					A	33855189	G	A	33855189	3	1	403	1	0	0	0	0	1	0	0	0	13770	1087	38	1	1166	1	RYR3	15	33855189	Missense_Mutation	SNP	G	TCGA-VN-A88N-01A-11D-A364-08	11472224	33855189	68676203	22	19612											
IRF8	3394	broad.mit.edu	37	chr16	85946826	85946826	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctccttccagactggtgggcGcagcagcccagcacaggtga	8	6	13	14	1	0	2	0	1	0	1	2	2	2	2	3	3	3	3	3	3	0	1	rs146360039		TCGA-VN-A88N-01A-11D-A364-08	TCGA-VN-A88N-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d074f30a-3b97-4e7d-a291-576c573768e9	a8f14eb8-6c49-4824-95e3-5d14cfe55729	g.chr16:85946826G>A	ENST00000268638.5	+	5	959	c.537G>A	c.(535-537)gcG>gcA	p.A179A	IRF8_ENST00000562492.1_5'Flank	NM_002163.2	NP_002154.1	Q02556	IRF8_HUMAN	interferon regulatory factor 8	179					cellular response to lipopolysaccharide (GO:0071222)|cytokine-mediated signaling pathway (GO:0019221)|defense response to bacterium (GO:0042742)|defense response to protozoan (GO:0042832)|immune response (GO:0006955)|interferon-gamma-mediated signaling pathway (GO:0060333)|myeloid cell differentiation (GO:0030099)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|phagocytosis (GO:0006909)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)|transcription from RNA polymerase II promoter (GO:0006366)|type I interferon signaling pathway (GO:0060337)	cytosol (GO:0005829)|nucleus (GO:0005634)	regulatory region DNA binding (GO:0000975)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	24		Prostate(104;0.0771)				ACTGGTGGGCGCAGCAGCCCA	0.617													G|||	1	0.000199681	8e-04	0	5008	,	,		18026	0		0	False		,,,				2504	0					ENST00000268638.5																			0				breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	24						c.(535-537)gcG>gcA		interferon regulatory factor 8		G		8,4388	14.3+/-33.2	0,8,2190	65	69	68		537	-3.1	0.1	16	dbSNP_134	68	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	IRF8	NM_002163.2		0,9,6489	AA,AG,GG		0.0116,0.182,0.0693		179/427	85946826	9,12987	2198	4300	6498	SO:0001819	synonymous_variant	3394				interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	nucleus	DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity	g.chr16:85946826G>A	M91196	CCDS10956.1	16q24.1	2014-09-17	2004-11-12	2004-11-12	ENSG00000140968	ENSG00000140968			5358	protein-coding gene	gene with protein product		601565	"interferon consensus sequence binding protein 1"	ICSBP1		1460054, 11997525	Standard	NM_002163		Approved	IRF-8, ICSBP	uc002fjh.3	Q02556	OTTHUMG00000137648	ENST00000268638.5:c.537G>A	16.37:g.85946826G>A							p.A179A	NM_002163.2	NP_002154.1	Q02556	IRF8_HUMAN			5	959	+		Prostate(104;0.0771)	179					A0AV82	Silent	SNP	ENST00000268638.5	37	c.537G>A	CCDS10956.1																																																																																				0.617	IRF8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269100.2	NM_002163		3	47	0	0	0	1	0	3	47					A	85946826	G	A	85946826	2	1	403	1	0	0	0	0	0	0	0	1	7836	1074	38	1		1	IRF8	16	85946826	Silent	SNP	G	TCGA-VN-A88N-01A-11D-A364-08		85946826	4407927	23	19613											
DNAH9	1770	broad.mit.edu	37	chr17	11532900	11532900	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcctgtacctccaaagcaCggtagggttgggaagggctg	8	8	15	10	1	0	0	0	0	0	0	1	1	1	1	3	4	3	5	3	4	4	3	rs141702885	byFrequency	TCGA-VN-A88N-01A-11D-A364-08	TCGA-VN-A88N-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d074f30a-3b97-4e7d-a291-576c573768e9	a8f14eb8-6c49-4824-95e3-5d14cfe55729	g.chr17:11532900C>T	ENST00000262442.4	+	7	1585	c.1517C>T	c.(1516-1518)aCg>aTg	p.T506M	DNAH9_ENST00000454412.2_Splice_Site_p.T506M	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	506	Stem. {ECO:0000250}.				cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		CTCCAAAGCACGGTAGGGTTG	0.507													C|||	3	0.000599042	0	0	5008	,	,		16577	0.003		0	False		,,,				2504	0					ENST00000262442.3																			0				NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290						c.e7+1		dynein, axonemal, heavy chain 9							78	74	75					17																	11532900		2203	4300	6503	SO:0001630	splice_region_variant	1770				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:11532900C>T	U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"Axonemal dyneins"	2953	protein-coding gene	gene with protein product		603330	"dynein, axonemal, heavy polypeptide 17-like", "dynein, axonemal, heavy polypeptide 9"	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.1518+1C>T	17.37:g.11532900C>T						DNAH9_ENST00000579406.1_3'UTR|DNAH9_ENST00000454412.2_Splice_Site_p.T506_splice	p.T506_splice	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)	7	1585	+		Breast(5;0.0122)|all_epithelial(5;0.131)	506			Stem (By similarity).		A2VCQ8|O15064|O95494|Q9NQ28	Splice_Site	SNP	ENST00000262442.4	37	c.1518_splice	CCDS11160.1	3	0.0013736263736263737	0	0.0	0	0.0	3	0.005244755244755245	0	0.0	C	11.01	1.513397	0.27123	.	.	ENSG00000007174	ENST00000262442;ENST00000454412	T;T	0.56275	0.47;0.47	5.61	-7.92	0.01160	Dynein heavy chain, domain-1 (1);	1.435080	0.03713	N	0.250561	T	0.27559	0.0677	N	0.21373	0.66	0.38781	D	0.954769	B	0.12630	0.006	B	0.17098	0.017	T	0.03852	-1.0998	10	0.30854	T	0.27	.	10.7333	0.46109	0.0:0.5198:0.1855:0.2947	.	506	Q9NYC9	DYH9_HUMAN	M	506	ENSP00000262442:T506M;ENSP00000414874:T506M	ENSP00000262442:T506M	T	+	2	0	DNAH9	11473625	0.000000	0.05858	0.049000	0.19019	0.939000	0.58152	-2.036000	0.01421	-1.485000	0.01854	-0.302000	0.09304	ACG		0.507	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2	NM_001372	Missense_Mutation	4	43	0	0	0	1	0	4	43					T	11532900	C	T	11532900	5	4	403	1	0	0	0	0	0	0	1	0	4608	550	19	1	1543	1	DNAH9	17	11532900	Splice_Site	SNP	C	TCGA-VN-A88N-01A-11D-A364-08		11532900	69662310	24	19614											
ALDOC	230	broad.mit.edu	37	chr17	26902441	26902441	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctacagatgtccacttacctAcagactcatccgcagccaga	12	8	6	15	1	1	3	1	0	0	3	3	3	3	3	4	0	4	1	4	0	3	3			TCGA-VN-A88N-01A-11D-A364-08	TCGA-VN-A88N-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d074f30a-3b97-4e7d-a291-576c573768e9	a8f14eb8-6c49-4824-95e3-5d14cfe55729	g.chr17:26902441A>G	ENST00000226253.4	-	2	585	c.110T>C	c.(109-111)gTa>gCa	p.V37A	ALDOC_ENST00000395321.2_Missense_Mutation_p.V37A|ALDOC_ENST00000395319.3_Missense_Mutation_p.V37A|RP11-192H23.5_ENST00000585189.1_RNA	NM_005165.2	NP_005156.1	P09972	ALDOC_HUMAN	aldolase C, fructose-bisphosphate	37					aging (GO:0007568)|apoptotic process (GO:0006915)|carbohydrate metabolic process (GO:0005975)|epithelial cell differentiation (GO:0030855)|fructose 1,6-bisphosphate metabolic process (GO:0030388)|fructose metabolic process (GO:0006000)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|organ regeneration (GO:0031100)|protein heterotetramerization (GO:0051290)|protein homotetramerization (GO:0051289)|response to hypoxia (GO:0001666)|response to organic cyclic compound (GO:0014070)|response to organonitrogen compound (GO:0010243)|small molecule metabolic process (GO:0044281)	axon (GO:0030424)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	cytoskeletal protein binding (GO:0008092)|fructose-bisphosphate aldolase activity (GO:0004332)			breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	11	Lung NSC(42;0.00431)					CCACTTACCTACAGACTCATC	0.567											OREG0024278	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000226253.4																			0				breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	11						c.(109-111)gTa>gCa		aldolase C, fructose-bisphosphate							105	92	97					17																	26902441		2203	4300	6503	SO:0001583	missense	230				fructose 1,6-bisphosphate metabolic process|gluconeogenesis|glycolysis	cytosol	cytoskeletal protein binding|fructose-bisphosphate aldolase activity	g.chr17:26902441A>G	AF054987	CCDS11236.1	17q11.2	2013-09-20			ENSG00000109107	ENSG00000109107	4.1.2.13		418	protein-coding gene	gene with protein product		103870					Standard	XM_005257947		Approved		uc002hbp.3	P09972	OTTHUMG00000132605	ENST00000226253.4:c.110T>C	17.37:g.26902441A>G	ENSP00000226253:p.Val37Ala		OREG0024278	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	790	ALDOC_ENST00000395319.3_Missense_Mutation_p.V37A|ALDOC_ENST00000395321.2_Missense_Mutation_p.V37A	p.V37A	NM_005165.2	NP_005156.1	P09972	ALDOC_HUMAN			2	585	-	Lung NSC(42;0.00431)		37					B2R5R3|Q3SYL3|Q6FH94|Q6P0L5	Missense_Mutation	SNP	ENST00000226253.4	37	c.110T>C	CCDS11236.1	.	.	.	.	.	.	.	.	.	.	A	12.75	2.031185	0.35797	.	.	ENSG00000109107	ENST00000395319;ENST00000226253;ENST00000395321;ENST00000435638	D;D;D;D	0.85484	-1.99;-1.99;-1.99;-1.99	6.07	6.07	0.98685	Aldolase-type TIM barrel (1);	0.115046	0.64402	D	0.000013	T	0.79458	0.4449	L	0.28649	0.875	0.53688	D	0.999975	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.001	T	0.74746	-0.3561	10	0.62326	D	0.03	.	15.6114	0.76721	1.0:0.0:0.0:0.0	.	37;37	A8MVZ9;P09972	.;ALDOC_HUMAN	A	37	ENSP00000378729:V37A;ENSP00000226253:V37A;ENSP00000378731:V37A;ENSP00000398976:V37A	ENSP00000226253:V37A	V	-	2	0	ALDOC	23926568	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	4.595000	0.61048	2.326000	0.78906	0.533000	0.62120	GTA		0.567	ALDOC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255839.4			8	41	0	0	0	1	0	8	41					G	26902441	A	G	26902441	3	3	403	1	0	0	0	0	1	0	0	0	509	391	14	4	1016	4	ALDOC	17	26902441	Missense_Mutation	SNP	A	TCGA-VN-A88N-01A-11D-A364-08	15369541	26902441	54292769	25	19615											
SEPT4	5414	broad.mit.edu	37	chr17	56598656	56598656	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agagtcgaccccgaactcgcCgccctctggcctctactaca	8	7	8	18	4	2	1	0	0	2	1	4	3	2	1	5	1	3	0	5	1	3	2	rs139843357		TCGA-VN-A88N-01A-11D-A364-08	TCGA-VN-A88N-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d074f30a-3b97-4e7d-a291-576c573768e9	a8f14eb8-6c49-4824-95e3-5d14cfe55729	g.chr17:56598656C>T	ENST00000317268.3	-	9	1249	c.1073G>A	c.(1072-1074)cGg>cAg	p.R358Q	SEPT4_ENST00000583114.1_Missense_Mutation_p.R211Q|SEPT4_ENST00000393086.1_Missense_Mutation_p.R339Q|SEPT4_ENST00000317256.6_Missense_Mutation_p.R339Q|SEPT4_ENST00000580844.1_Missense_Mutation_p.R259Q|SEPT4_ENST00000426861.1_3'UTR|RP11-112H10.4_ENST00000580589.1_RNA|SEPT4_ENST00000412945.3_Missense_Mutation_p.R350Q|SEPT4_ENST00000457347.2_Missense_Mutation_p.R373Q|SEPT4_ENST00000579371.1_Missense_Mutation_p.R259Q	NM_004574.3	NP_004565.1	O43236	SEPT4_HUMAN	septin 4	358	Septin-type G.				apoptotic process (GO:0006915)|brain development (GO:0007420)|cell cycle (GO:0007049)|cell division (GO:0051301)|GTP catabolic process (GO:0006184)|positive regulation of apoptotic process (GO:0043065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of protein ubiquitination (GO:0031398)|regulation of apoptotic process (GO:0042981)|sperm capacitation (GO:0048240)|sperm mitochondrion organization (GO:0030382)	cytoskeleton (GO:0005856)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|sperm annulus (GO:0097227)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural molecule activity (GO:0005198)			NS(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	18	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CCGAACTCGCCGCCCTCTGGC	0.577											OREG0024614	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C|||	1	0.000199681	0	0	5008	,	,		18749	0		0.001	False		,,,				2504	0					ENST00000457347.2																			0				NS(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	18						c.(1117-1119)cGg>cAg		septin 4		C	GLN/ARG,GLN/ARG,,GLN/ARG	3,4403	6.2+/-15.9	0,3,2200	72	65	67		1049,1073,,1016	5.7	1	17	dbSNP_134	67	4,8596	3.0+/-9.4	0,4,4296	yes	missense,missense,utr-3,missense	SEPT4	NM_001198713.1,NM_004574.3,NM_080415.2,NM_080416.2	43,43,,43	0,7,6496	TT,TC,CC		0.0465,0.0681,0.0538	benign,benign,,benign	350/471,358/479,,339/460	56598656	7,12999	2203	4300	6503	SO:0001583	missense	5414				apoptosis|cell cycle|cytokinesis|regulation of apoptosis	cytoskeleton|mitochondrion|nucleus	GTP binding|GTPase activity|protein binding|structural molecule activity	g.chr17:56598656C>T	AF073312	CCDS11609.1, CCDS11610.1, CCDS45743.1, CCDS56041.1, CCDS58581.1, CCDS58582.1	17q22	2013-01-21	2005-01-11	2005-01-12	ENSG00000108387	ENSG00000108387		"Septins"	9165	protein-coding gene	gene with protein product	"bradeoin", "septin-M"	603696	"peanut-like 2 (Drosophila)"	PNUTL2		9889007	Standard	NM_001198713		Approved	H5, CE5B3, hucep-7, ARTS, hCDCREL-2, MART	uc002iwm.2	O43236		ENST00000317268.3:c.1073G>A	17.37:g.56598656C>T	ENSP00000321674:p.Arg358Gln		OREG0024614	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1016	SEPT4_ENST00000579371.1_Missense_Mutation_p.R259Q|SEPT4_ENST00000426861.1_3'UTR|SEPT4_ENST00000412945.3_Missense_Mutation_p.R350Q|SEPT4_ENST00000393086.1_Missense_Mutation_p.R339Q|SEPT4_ENST00000317256.6_Missense_Mutation_p.R339Q|SEPT4_ENST00000317268.3_Missense_Mutation_p.R358Q|SEPT4_ENST00000583114.1_Missense_Mutation_p.R211Q|RP11-112H10.4_ENST00000580589.1_RNA|SEPT4_ENST00000580844.1_Missense_Mutation_p.R259Q	p.R373Q	NM_001256782.1	NP_001243711.1	O43236	SEPT4_HUMAN			10	1262	-	Medulloblastoma(34;0.127)|all_neural(34;0.237)		358					B2RD42|B3KSX9|B4DXC6|B4DXV5|Q6IAP3|Q9H315|Q9UM58	Missense_Mutation	SNP	ENST00000317268.3	37	c.1118G>A	CCDS11610.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	C	13.19	2.164027	0.38217	6.81E-4	4.65E-4	ENSG00000108387	ENST00000412945;ENST00000457347;ENST00000317256;ENST00000317268;ENST00000393086	T;T;T;T	0.34275	1.37;1.37;1.37;1.37	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	T	0.42539	0.1207	L	0.52759	1.655	0.58432	D	0.999993	P;D;P;B;P	0.57571	0.531;0.98;0.531;0.098;0.586	B;P;B;B;B	0.48030	0.084;0.564;0.084;0.066;0.136	T	0.22138	-1.0225	10	0.45353	T	0.12	.	17.2516	0.87044	0.0:1.0:0.0:0.0	.	350;373;339;211;358	O43236-3;O43236-4;O43236-2;O43236-5;O43236	.;.;.;.;SEPT4_HUMAN	Q	350;372;339;358;339	ENSP00000414779:R350Q;ENSP00000321071:R339Q;ENSP00000321674:R358Q;ENSP00000376801:R339Q	ENSP00000321071:R339Q	R	-	2	0	SEPT4	53953655	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.071000	0.41500	2.657000	0.90304	0.655000	0.94253	CGG		0.577	SEPT4-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000445420.1	NM_080417		3	53	0	0	0	1	0	3	53					T	56598656	C	T	56598656	3	4	403	1	0	0	0	0	1	0	0	0	14066	652	23	2	379	2	SEPT4	17	56598656	Missense_Mutation	SNP	C	TCGA-VN-A88N-01A-11D-A364-08	29696215	56598656	24596554	26	19616											
CCDC40	55036	broad.mit.edu	37	chr17	78061450	78061450	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agcagaaggagatcgagcacCacatgaaggacctggacaac	16	3	12	10	1	0	3	0	1	0	2	1	7	0	5	2	3	3	2	2	3	3	0			TCGA-VN-A88N-01A-11D-A364-08	TCGA-VN-A88N-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d074f30a-3b97-4e7d-a291-576c573768e9	a8f14eb8-6c49-4824-95e3-5d14cfe55729	g.chr17:78061450C>G	ENST00000397545.4	+	15	2521	c.2494C>G	c.(2494-2496)Cac>Gac	p.H832D	CCDC40_ENST00000374877.3_Missense_Mutation_p.H832D	NM_017950.3	NP_060420.2	Q4G0X9	CCD40_HUMAN	coiled-coil domain containing 40	832					axonemal dynein complex assembly (GO:0070286)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of liver left/right asymmetry (GO:0071910)|determination of pancreatic left/right asymmetry (GO:0035469)|epithelial cilium movement (GO:0003351)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|heart looping (GO:0001947)|lung development (GO:0030324)|regulation of cilium beat frequency (GO:0003356)	cilium (GO:0005929)|cytoplasm (GO:0005737)				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(7)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	38	all_neural(118;0.167)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149)			GATCGAGCACCACATGAAGGA	0.542																																						ENST00000397545.4																			0				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(7)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	38						c.(2494-2496)Cac>Gac		coiled-coil domain containing 40							73	84	80					17																	78061450		2087	4221	6308	SO:0001583	missense	55036				axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium|cytoplasm		g.chr17:78061450C>G	AB046860	CCDS42395.1, CCDS58604.1	17q25.3	2013-11-15			ENSG00000141519	ENSG00000141519			26090	protein-coding gene	gene with protein product		613799				21131974	Standard	NM_017950		Approved	FLJ20753, KIAA1640, FLJ32021, CILD15, FAP172	uc010dht.3	Q4G0X9	OTTHUMG00000132707	ENST00000397545.4:c.2494C>G	17.37:g.78061450C>G	ENSP00000380679:p.His832Asp					CCDC40_ENST00000374877.3_Missense_Mutation_p.H832D	p.H832D	NM_017950.3	NP_060420.2	Q4G0X9	CCD40_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149)		15	2521	+	all_neural(118;0.167)		832					A8MTD2|C9JTI9|C9JTJ0|C9JXW1|Q6PE47|Q9HCD2|Q9NWL5	Missense_Mutation	SNP	ENST00000397545.4	37	c.2494C>G	CCDS42395.1	.	.	.	.	.	.	.	.	.	.	C	14.40	2.524461	0.44969	.	.	ENSG00000141519	ENST00000374877;ENST00000397545	T;T	0.46819	0.86;0.88	4.56	4.56	0.56223	E3 ubiquitin ligase, BRE1 (1);	.	.	.	.	T	0.62672	0.2447	M	0.75447	2.3	0.31558	N	0.657908	D;D	0.54601	0.967;0.96	P;P	0.55508	0.777;0.574	T	0.66424	-0.5927	9	0.25751	T	0.34	-41.2234	17.3173	0.87228	0.0:1.0:0.0:0.0	.	832;615	Q4G0X9;Q4G0X9-3	CCD40_HUMAN;.	D	832	ENSP00000364011:H832D;ENSP00000380679:H832D	ENSP00000364011:H832D	H	+	1	0	CCDC40	75676045	0.999000	0.42202	0.860000	0.33809	0.335000	0.28730	4.585000	0.60977	2.086000	0.62901	0.557000	0.71058	CAC		0.542	CCDC40-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256005.2	XM_371082		6	19	0	0	0	1	0	6	19					G	78061450	C	G	78061450	3	3	403	1	0	0	0	0	1	0	0	0	2812	594	21	5	2552	5	CCDC40	17	78061450	Missense_Mutation	SNP	C	TCGA-VN-A88N-01A-11D-A364-08	21462794	78061450	3133760	27	19617											
CCBE1	147372	broad.mit.edu	37	chr18	57133976	57133976	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acttgccctacttaccagtgTcattgggatatttgtctccc	7	15	7	12	0	2	0	1	0	1	0	3	1	2	1	3	1	3	0	3	1	3	6			TCGA-VN-A88N-01A-11D-A364-08	TCGA-VN-A88N-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d074f30a-3b97-4e7d-a291-576c573768e9	a8f14eb8-6c49-4824-95e3-5d14cfe55729	g.chr18:57133976T>C	ENST00000439986.4	-	5	585	c.548A>G	c.(547-549)gAc>gGc	p.D183G	RP11-27G24.3_ENST00000589242.1_RNA|CCBE1_ENST00000398179.2_5'UTR	NM_133459.3	NP_597716.1	Q6UXH8	CCBE1_HUMAN	collagen and calcium binding EGF domains 1	183					lymphangiogenesis (GO:0001946)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of lymphangiogenesis (GO:1901492)|positive regulation of protein processing (GO:0010954)|positive regulation of vascular endothelial growth factor signaling pathway (GO:1900748)|positive regulation vascular endothelial growth factor production (GO:0010575)|sprouting angiogenesis (GO:0002040)|venous blood vessel morphogenesis (GO:0048845)	collagen trimer (GO:0005581)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|protease binding (GO:0002020)			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|prostate(1)|skin(3)	24		Colorectal(73;0.175)				CTTACCAGTGTCATTGGGATA	0.398																																					NSCLC(137;1340 1860 15773 39604 51087)|Esophageal Squamous(139;339 1777 2926 19691 38524)	ENST00000439986.4																			0				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|prostate(1)|skin(3)	24						c.(547-549)gAc>gGc		collagen and calcium binding EGF domains 1							126	112	117					18																	57133976		2203	4300	6503	SO:0001583	missense	147372				lymphangiogenesis|sprouting angiogenesis|venous blood vessel morphogenesis	collagen	calcium ion binding	g.chr18:57133976T>C	AB075863	CCDS32838.1	18q21.32	2005-01-18				ENSG00000183287			29426	protein-coding gene	gene with protein product		612753				11853319, 12975309	Standard	NM_133459		Approved	FLJ30681, KIAA1983	uc002lib.3	Q6UXH8		ENST00000439986.4:c.548A>G	18.37:g.57133976T>C	ENSP00000404464:p.Asp183Gly					CCBE1_ENST00000398179.2_5'UTR	p.D183G	NM_133459.3	NP_597716.1	Q6UXH8	CCBE1_HUMAN			5	585	-		Colorectal(73;0.175)	183					Q6MZX5|Q86SS2|Q8TF19	Missense_Mutation	SNP	ENST00000439986.4	37	c.548A>G	CCDS32838.1	.	.	.	.	.	.	.	.	.	.	T	5.818	0.335126	0.11013	.	.	ENSG00000183287	ENST00000439986	T	0.72167	-0.63	4.15	2.99	0.34606	.	0.287376	0.32578	N	0.005907	T	0.61223	0.2330	L	0.51422	1.61	0.80722	D	1	B	0.18013	0.025	B	0.19391	0.025	T	0.57682	-0.7769	10	0.44086	T	0.13	-26.6286	7.8979	0.29717	0.0:0.1005:0.0:0.8995	.	183	Q6UXH8	CCBE1_HUMAN	G	183	ENSP00000404464:D183G	ENSP00000404464:D183G	D	-	2	0	CCBE1	55284956	.	.	0.973000	0.42090	0.206000	0.24218	.	.	0.943000	0.37553	0.533000	0.62120	GAC		0.398	CCBE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449685.2	NM_133459		30	114	0	0	0	1	0	30	114					C	57133976	T	C	57133976	3	2	403	1	0	0	0	0	1	0	0	0	2731	1667	58	4	700	4	CCBE1	18	57133976	Missense_Mutation	SNP	T	TCGA-VN-A88N-01A-11D-A364-08		57133976	20943272	28	19618											
PVRL2	5819	broad.mit.edu	37	chr19	45377223	45377223	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atgacaactggtacctcggcCgtactgatgccaccctgagc	9	8	10	14	2	0	3	0	3	0	0	1	3	0	3	4	2	5	2	4	2	3	2			TCGA-VN-A88N-01A-11D-A364-08	TCGA-VN-A88N-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d074f30a-3b97-4e7d-a291-576c573768e9	a8f14eb8-6c49-4824-95e3-5d14cfe55729	g.chr19:45377223C>T	ENST00000252483.5	+	4	826	c.826C>T	c.(826-828)Cgt>Tgt	p.R276C	PVRL2_ENST00000252485.4_Missense_Mutation_p.R276C	NM_001042724.1	NP_001036189.1	Q92692	PVRL2_HUMAN	poliovirus receptor-related 2 (herpesvirus entry mediator B)	276	Ig-like C2-type 2.				acrosome assembly (GO:0001675)|adherens junction organization (GO:0034332)|adhesion of symbiont to host (GO:0044406)|cell junction assembly (GO:0034329)|cell part morphogenesis (GO:0032990)|cell-cell junction organization (GO:0045216)|cilium organization (GO:0044782)|coreceptor-mediated virion attachment to host cell (GO:0046814)|cytoskeleton organization (GO:0007010)|establishment of mitochondrion localization (GO:0051654)|fertilization (GO:0009566)|fusion of virus membrane with host plasma membrane (GO:0019064)|homophilic cell adhesion (GO:0007156)|positive regulation of immunoglobulin mediated immune response (GO:0002891)|positive regulation of mast cell activation (GO:0033005)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target (GO:0002860)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)|sperm mitochondrion organization (GO:0030382)|spermatid development (GO:0007286)|spermatid nucleus differentiation (GO:0007289)|susceptibility to natural killer cell mediated cytotoxicity (GO:0042271)|susceptibility to T cell mediated cytotoxicity (GO:0060370)	cell surface (GO:0009986)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|zonula adherens (GO:0005915)	cell adhesion molecule binding (GO:0050839)|coreceptor activity (GO:0015026)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|virus receptor activity (GO:0001618)			breast(1)|endometrium(1)|large_intestine(6)|lung(5)	13	Lung NSC(12;0.00195)|all_lung(12;0.00522)	Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0143)		GTACCTCGGCCGTACTGATGC	0.602																																						ENST00000252483.5																			0				breast(1)|endometrium(1)|large_intestine(6)|lung(5)	13						c.(826-828)Cgt>Tgt		poliovirus receptor-related 2 (herpesvirus entry mediator B)							124	110	115					19																	45377223		2203	4300	6503	SO:0001583	missense	5819				adherens junction organization|adhesion to symbiont|cell junction assembly|homophilic cell adhesion|positive regulation of immunoglobulin mediated immune response|positive regulation of mast cell activation|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target|susceptibility to natural killer cell mediated cytotoxicity|susceptibility to T cell mediated cytotoxicity|viral envelope fusion with host membrane|virion attachment, binding of host cell surface coreceptor	cell surface|integral to membrane|zonula adherens	cell adhesion molecule binding|coreceptor activity|protein homodimerization activity	g.chr19:45377223C>T	X80038	CCDS12645.1, CCDS42576.1	19q13.32	2013-01-29			ENSG00000130202	ENSG00000130202		"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	9707	protein-coding gene	gene with protein product		600798		HVEB		7622062, 10196354	Standard	NM_001042724		Approved	PVRR2, PRR2, CD112	uc002ozw.1	Q92692	OTTHUMG00000180839	ENST00000252483.5:c.826C>T	19.37:g.45377223C>T	ENSP00000252483:p.Arg276Cys					PVRL2_ENST00000252485.4_Missense_Mutation_p.R276C	p.R276C	NM_001042724.1	NP_001036189.1	Q92692	PVRL2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0143)	4	826	+	Lung NSC(12;0.00195)|all_lung(12;0.00522)	Ovarian(192;0.0728)|all_neural(266;0.112)	276			Ig-like C2-type 2.		A8K5L5|O75455|Q6IBI6|Q96J29	Missense_Mutation	SNP	ENST00000252483.5	37	c.826C>T	CCDS42576.1	.	.	.	.	.	.	.	.	.	.	C	19.79	3.892454	0.72524	.	.	ENSG00000130202	ENST00000252483;ENST00000252485	D;T	0.85013	-1.93;-0.31	4.78	4.78	0.61160	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.53938	D	0.000042	D	0.92146	0.7510	M	0.81942	2.565	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79784	0.993;0.983	D	0.93138	0.6539	10	0.87932	D	0	.	15.3246	0.74150	0.0:1.0:0.0:0.0	.	276;276	Q92692;Q92692-2	PVRL2_HUMAN;.	C	276	ENSP00000252483:R276C;ENSP00000252485:R276C	ENSP00000252483:R276C	R	+	1	0	PVRL2	50069063	0.998000	0.40836	0.978000	0.43139	0.656000	0.38851	5.129000	0.64739	2.466000	0.83321	0.462000	0.41574	CGT		0.602	PVRL2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000453231.1	NM_002856		30	51	0	0	0	1	0	30	51					T	45377223	C	T	45377223	3	4	403	1	0	0	0	0	1	0	0	0	12840	652	23	2	840	2	PVRL2	19	45377223	Missense_Mutation	SNP	C	TCGA-VN-A88N-01A-11D-A364-08		45377223	13751760	29	19619											
PTGIR	5739	broad.mit.edu	37	chr19	47124854	47124854	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtccaggatggggttgaaggCgtagaagcggaaggcaagga	12	5	19	5	2	0	2	0	1	0	1	1	5	1	5	1	7	1	3	1	7	5	2			TCGA-VN-A88N-01A-11D-A364-08	TCGA-VN-A88N-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d074f30a-3b97-4e7d-a291-576c573768e9	a8f14eb8-6c49-4824-95e3-5d14cfe55729	g.chr19:47124854C>T	ENST00000291294.2	-	3	977	c.844G>A	c.(844-846)Gcc>Acc	p.A282T	PTGIR_ENST00000594275.1_Missense_Mutation_p.A39T|PTGIR_ENST00000598865.1_Missense_Mutation_p.A70T|PTGIR_ENST00000597185.1_Missense_Mutation_p.A11T	NM_000960.3	NP_000951.1	P43119	PI2R_HUMAN	prostaglandin I2 (prostacyclin) receptor (IP)	282					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|blood coagulation (GO:0007596)|cell-cell signaling (GO:0007267)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|negative regulation of platelet-derived growth factor receptor signaling pathway (GO:0010642)|negative regulation of smooth muscle cell proliferation (GO:0048662)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of GTPase activity (GO:0043547)|response to lipopolysaccharide (GO:0032496)	cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|guanyl-nucleotide exchange factor activity (GO:0005085)			endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	13		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000327)|all cancers(93;0.000641)|Epithelial(262;0.0174)|GBM - Glioblastoma multiforme(486;0.0331)	Dinoprost Tromethamine(DB01160)|Epoprostenol(DB01240)|Iloprost(DB01088)|Treprostinil(DB00374)	GGGTTGAAGGCGTAGAAGCGG	0.632																																						ENST00000291294.2																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	13						c.(844-846)Gcc>Acc		prostaglandin I2 (prostacyclin) receptor (IP)	Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Epoprostenol(DB01240)|Iloprost(DB01088)|Misoprostol(DB00929)						49	48	48					19																	47124854		2200	4294	6494	SO:0001583	missense	0				cell-cell signaling|G-protein signaling, coupled to cyclic nucleotide second messenger|platelet activation	integral to plasma membrane	G-protein coupled receptor activity|guanyl-nucleotide exchange factor activity	g.chr19:47124854C>T		CCDS12686.1	19q13.3	2012-08-08				ENSG00000160013		"GPCR / Class A : Prostanoid receptors"	9602	protein-coding gene	gene with protein product		600022				7759114	Standard	NM_000960		Approved	IP	uc002pex.3	P43119		ENST00000291294.2:c.844G>A	19.37:g.47124854C>T	ENSP00000291294:p.Ala282Thr					PTGIR_ENST00000597185.1_Missense_Mutation_p.A11T|PTGIR_ENST00000594275.1_Missense_Mutation_p.A39T|PTGIR_ENST00000598865.1_Missense_Mutation_p.A70T	p.A282T	NM_000960.3	NP_000951.1	P43119	PI2R_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000327)|all cancers(93;0.000641)|Epithelial(262;0.0174)|GBM - Glioblastoma multiforme(486;0.0331)	3	977	-		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)	282						Missense_Mutation	SNP	ENST00000291294.2	37	c.844G>A	CCDS12686.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.192573	0.78902	.	.	ENSG00000160013	ENST00000291294	T	0.71698	-0.59	4.91	3.81	0.43845	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.67869	0.2939	N	0.25060	0.705	0.42004	D	0.990909	D	0.71674	0.998	D	0.65573	0.936	T	0.61446	-0.7061	10	0.10111	T	0.7	-17.7293	11.6708	0.51399	0.178:0.8219:0.0:0.0	.	282	P43119	PI2R_HUMAN	T	282	ENSP00000291294:A282T	ENSP00000291294:A282T	A	-	1	0	PTGIR	51816694	0.736000	0.28164	0.997000	0.53966	0.915000	0.54546	1.456000	0.35201	2.252000	0.74401	0.561000	0.74099	GCC		0.632	PTGIR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466581.1			21	25	0	0	0	1	0	21	25					T	47124854	C	T	47124854	3	4	403	1	0	0	0	0	1	0	0	0	12751	768	27	1	320	1	PTGIR	19	47124854	Missense_Mutation	SNP	C	TCGA-VN-A88N-01A-11D-A364-08	1747631	47124854	12004129	30	19620											
LILRA2	11027	broad.mit.edu	37	chr19	55086927	55086927	+	Missense_Mutation	SNP	C	C	G																															caccctgggccctgtgagccCctcccacgggggccagtaca																								rs560494676	byFrequency	TCGA-VN-A88N-01A-11D-A364-08	TCGA-VN-A88N-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d074f30a-3b97-4e7d-a291-576c573768e9	a8f14eb8-6c49-4824-95e3-5d14cfe55729	g.chr19:55086927C>G	ENST00000251377.3	+	6	993	c.860C>G	c.(859-861)cCc>cGc	p.P287R	LILRA2_ENST00000391738.3_Missense_Mutation_p.P287R|LILRB1_ENST00000448689.1_Intron|LILRB1_ENST00000418536.2_Intron|LILRA2_ENST00000251376.3_Missense_Mutation_p.P287R|LILRB1_ENST00000396321.2_Intron|LILRA2_ENST00000391737.1_Missense_Mutation_p.P275R			Q8N149	LIRA2_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2	287	Ig-like C2-type 3.				defense response (GO:0006952)|immune system process (GO:0002376)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	antigen binding (GO:0003823)|receptor activity (GO:0004872)			breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(33)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50				GBM - Glioblastoma multiforme(193;0.0963)		CCTGTGAGCCCCTCCCACGGG	0.637													c|||	7	0.00139776	0	0.0029	5008	,	,		16176	0		0	False		,,,				2504	0.0051					ENST00000251377.3																			0				breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(33)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50						c.(859-861)cCc>cGc		leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2							51	53	52					19																	55086927		2203	4299	6502	SO:0001583	missense	0							g.chr19:55086927C>G	U82275	CCDS12900.1, CCDS46179.1, CCDS74453.1	19q13.4	2013-01-11			ENSG00000239998	ENSG00000239998		"Leukocyte immunoglobulin-like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6603	protein-coding gene	gene with protein product		604812				9079806, 9548455	Standard	XM_005258452		Approved	LIR-7, ILT1, CD85h, LIR7		Q8N149	OTTHUMG00000065703	ENST00000251377.3:c.860C>G	19.37:g.55086927C>G	ENSP00000251377:p.Pro287Arg					LILRA2_ENST00000391737.1_Missense_Mutation_p.P275R|LILRA2_ENST00000391738.3_Missense_Mutation_p.P287R|LILRB1_ENST00000396321.2_Intron|LILRB1_ENST00000448689.1_Intron|LILRA2_ENST00000251376.3_Missense_Mutation_p.P287R|LILRB1_ENST00000418536.2_Intron	p.P287R						GBM - Glioblastoma multiforme(193;0.0963)	6	993	+								O75020	Missense_Mutation	SNP	ENST00000251377.3	37	c.860C>G	CCDS46179.1	.	.	.	.	.	.	.	.	.	.	C	0	-2.616861	0.00118	.	.	ENSG00000239998	ENST00000439534;ENST00000251377;ENST00000391738;ENST00000251376;ENST00000391737	T;T;T;T;T	0.13089	2.62;2.62;2.62;2.62;2.62	2.8	-5.59	0.02505	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	10.104300	0.00481	N	0.000131	T	0.07052	0.0179	N	0.25144	0.715	0.09310	N	1	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.17098	0.017;0.002;0.002;0.001	T	0.37596	-0.9699	10	0.05959	T	0.93	.	3.4105	0.07356	0.2975:0.4556:0.1328:0.1142	.	287;275;287;287	E9PDF4;A8MZH0;Q8N149;Q8N149-2	.;.;LIRA2_HUMAN;.	R	287;287;287;287;275	ENSP00000388131:P287R;ENSP00000251377:P287R;ENSP00000375618:P287R;ENSP00000251376:P287R;ENSP00000375617:P275R	ENSP00000251376:P287R	P	+	2	0	LILRA2	59778739	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-3.336000	0.00507	-2.650000	0.00424	-3.580000	0.00029	CCC		0.637	LILRA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000140813.2			4	73	0	0	0	1	0	4	73					G	55086927	C	G	55086927	3	3	403	1	0	0	0	0	1	0	0	0	8785	623	22	5	878	5	LILRA2	19	55086927	Missense_Mutation	SNP	C	TCGA-VN-A88N-01A-11D-A364-08	7962073	55086927	4042056	31	19621	99	2									
LILRA2	11027	broad.mit.edu	37	chr19	55086932	55086932	+	Missense_Mutation	SNP	C	C	T																															tgggccctgtgagcccctccCacgggggccagtacagatgc																								rs532565720	byFrequency	TCGA-VN-A88N-01A-11D-A364-08	TCGA-VN-A88N-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d074f30a-3b97-4e7d-a291-576c573768e9	a8f14eb8-6c49-4824-95e3-5d14cfe55729	g.chr19:55086932C>T	ENST00000251377.3	+	6	998	c.865C>T	c.(865-867)Cac>Tac	p.H289Y	LILRA2_ENST00000391738.3_Missense_Mutation_p.H289Y|LILRB1_ENST00000448689.1_Intron|LILRB1_ENST00000418536.2_Intron|LILRA2_ENST00000251376.3_Missense_Mutation_p.H289Y|LILRB1_ENST00000396321.2_Intron|LILRA2_ENST00000391737.1_Missense_Mutation_p.H277Y			Q8N149	LIRA2_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2	289	Ig-like C2-type 3.				defense response (GO:0006952)|immune system process (GO:0002376)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	antigen binding (GO:0003823)|receptor activity (GO:0004872)	p.H289Y(1)		breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(33)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50				GBM - Glioblastoma multiforme(193;0.0963)		GAGCCCCTCCCACGGGGGCCA	0.647													c|||	6	0.00119808	0	0.0014	5008	,	,		16291	0		0	False		,,,				2504	0.0051					ENST00000251377.3																			1	Substitution - Missense(1)	p.H289Y(1)	kidney(1)	breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(33)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50						c.(865-867)Cac>Tac		leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2							49	51	50					19																	55086932		2203	4299	6502	SO:0001583	missense	0							g.chr19:55086932C>T	U82275	CCDS12900.1, CCDS46179.1, CCDS74453.1	19q13.4	2013-01-11			ENSG00000239998	ENSG00000239998		"Leukocyte immunoglobulin-like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6603	protein-coding gene	gene with protein product		604812				9079806, 9548455	Standard	XM_005258452		Approved	LIR-7, ILT1, CD85h, LIR7		Q8N149	OTTHUMG00000065703	ENST00000251377.3:c.865C>T	19.37:g.55086932C>T	ENSP00000251377:p.His289Tyr					LILRA2_ENST00000391737.1_Missense_Mutation_p.H277Y|LILRA2_ENST00000391738.3_Missense_Mutation_p.H289Y|LILRB1_ENST00000396321.2_Intron|LILRB1_ENST00000448689.1_Intron|LILRA2_ENST00000251376.3_Missense_Mutation_p.H289Y|LILRB1_ENST00000418536.2_Intron	p.H289Y						GBM - Glioblastoma multiforme(193;0.0963)	6	998	+								O75020	Missense_Mutation	SNP	ENST00000251377.3	37	c.865C>T	CCDS46179.1	.	.	.	.	.	.	.	.	.	.	C	8.190	0.795735	0.16327	.	.	ENSG00000239998	ENST00000439534;ENST00000251377;ENST00000391738;ENST00000251376;ENST00000391737	T;T;T;T;T	0.00824	5.65;5.65;5.65;5.65;5.65	2.8	2.8	0.32819	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.843870	0.10052	N	0.722156	T	0.02767	0.0083	M	0.81179	2.53	0.25235	N	0.989797	B;B;B;B	0.17038	0.018;0.02;0.009;0.001	B;B;B;B	0.38458	0.274;0.077;0.077;0.015	T	0.36648	-0.9739	10	0.28530	T	0.3	.	9.2391	0.37484	0.0:1.0:0.0:0.0	.	289;277;289;289	E9PDF4;A8MZH0;Q8N149;Q8N149-2	.;.;LIRA2_HUMAN;.	Y	289;289;289;289;277	ENSP00000388131:H289Y;ENSP00000251377:H289Y;ENSP00000375618:H289Y;ENSP00000251376:H289Y;ENSP00000375617:H277Y	ENSP00000251376:H289Y	H	+	1	0	LILRA2	59778744	0.000000	0.05858	0.006000	0.13384	0.119000	0.20118	0.417000	0.21214	1.570000	0.49709	0.400000	0.26472	CAC		0.647	LILRA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000140813.2			4	76	0	0	0	1	0	4	76					T	55086932	C	T	55086932	3	4	403	1	0	0	0	0	1	0	0	0	8785	594	21	3	883	3	LILRA2	19	55086932	Missense_Mutation	SNP	C	TCGA-VN-A88N-01A-11D-A364-08	5	55086932	4042051	32	19622	99	2									
SON	6651	broad.mit.edu	37	chr21	34924043	34924043	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gctccatggactcccagatgTtagcaaccagcaccatggat	11	8	9	13	0	0	1	0	0	0	1	2	3	2	3	4	2	3	4	4	2	2	1			TCGA-VN-A88N-01A-11D-A364-08	TCGA-VN-A88N-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d074f30a-3b97-4e7d-a291-576c573768e9	a8f14eb8-6c49-4824-95e3-5d14cfe55729	g.chr21:34924043T>G	ENST00000356577.4	+	3	2981	c.2506T>G	c.(2506-2508)Tta>Gta	p.L836V	SON_ENST00000300278.4_Missense_Mutation_p.L836V|SON_ENST00000381692.2_Intron|SON_ENST00000290239.6_Missense_Mutation_p.L836V|SON_ENST00000381679.4_Missense_Mutation_p.L836V	NM_138927.1	NP_620305	P18583	SON_HUMAN	SON DNA binding protein	836	17 X 10 AA tandem repeats of L-A-[ST]- [NSG]-[TS]-MDSQM.				cytokinesis (GO:0000910)|microtubule cytoskeleton organization (GO:0000226)|mRNA processing (GO:0006397)|negative regulation of apoptotic process (GO:0043066)|regulation of cell cycle (GO:0051726)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nuclear speck (GO:0016607)|nucleus (GO:0005634)	DNA binding (GO:0003677)|nucleic acid binding (GO:0003676)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(3)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(25)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	72						CTCCCAGATGTTAGCAACCAG	0.507																																						ENST00000356577.4																			0				breast(3)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(25)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	72						c.(2506-2508)Tta>Gta		SON DNA binding protein							170	167	168					21																	34924043		2203	4300	6503	SO:0001583	missense	6651				anti-apoptosis|cytokinesis|mRNA processing|regulation of cell cycle|regulation of RNA splicing|RNA splicing|spindle pole body separation	nuclear speck	DNA binding|double-stranded RNA binding	g.chr21:34924043T>G	AF380181	CCDS13629.1, CCDS13631.1, CCDS74784.1	21q22.1-q22.2	2013-01-28			ENSG00000159140	ENSG00000159140		"G patch domain containing"	11183	protein-coding gene	gene with protein product	"NRE-binding protein", "negative regulatory element-binding protein", "Bax antagonist selected in Saccharomyces 1"	182465		C21orf50		8318737, 21551269	Standard	NM_032195		Approved	DBP-5, NREBP, KIAA1019, BASS1, FLJ21099, FLJ33914	uc002yse.1	P18583	OTTHUMG00000065806	ENST00000356577.4:c.2506T>G	21.37:g.34924043T>G	ENSP00000348984:p.Leu836Val					SON_ENST00000300278.4_Missense_Mutation_p.L836V|SON_ENST00000381679.4_Missense_Mutation_p.L836V|SON_ENST00000381692.2_Intron|SON_ENST00000290239.6_Missense_Mutation_p.L836V	p.L836V	NM_138927.1	NP_620305.1	P18583	SON_HUMAN			3	2981	+			836			17 X 10 AA tandem repeats of L-A-[ST]- [NSG]-[TS]-MDSQM.		D3DSF5|D3DSF6|E7ETE8|E7EU67|E7EVW3|E9PFQ2|O14487|O95981|Q14120|Q6PKE0|Q9H7B1|Q9P070|Q9P072|Q9UKP9|Q9UPY0	Missense_Mutation	SNP	ENST00000356577.4	37	c.2506T>G	CCDS13629.1	.	.	.	.	.	.	.	.	.	.	T	11.63	1.694513	0.30052	.	.	ENSG00000159140	ENST00000356577;ENST00000290239;ENST00000300278;ENST00000381679	T;T;T;T	0.81078	-1.45;-1.45;-1.45;-1.45	5.62	3.26	0.37387	.	0.000000	0.41938	D	0.000792	D	0.84352	0.5453	M	0.63843	1.955	0.28013	N	0.934833	D;D;B	0.71674	0.982;0.998;0.181	D;D;P	0.77557	0.952;0.99;0.517	T	0.74763	-0.3555	10	0.40728	T	0.16	.	4.852	0.13542	0.0:0.1647:0.1583:0.6771	.	836;836;836	P18583;P18583-3;P18583-6	SON_HUMAN;.;.	V	836	ENSP00000348984:L836V;ENSP00000290239:L836V;ENSP00000300278:L836V;ENSP00000371095:L836V	ENSP00000290239:L836V	L	+	1	2	SON	33845913	0.995000	0.38212	0.992000	0.48379	0.889000	0.51656	0.573000	0.23699	0.428000	0.26173	-0.269000	0.10298	TTA		0.507	SON-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000140978.2	NM_138927		89	169	0	0	0	1	0	89	169					G	34924043	T	G	34924043	3	3	403	1	0	0	0	0	1	0	0	0	14926	1722	60	5	2516	5	SON	21	34924043	Missense_Mutation	SNP	T	TCGA-VN-A88N-01A-11D-A364-08		34924043	13205852	33	19623											
BCOR	54880	broad.mit.edu	37	chrX	39932270	39932279	+	Frame_Shift_Del	DEL	GATGTAACTT	GATGTAACTT	-																															cttgtcggtggggacatctgGatgtaacttggtgctgctag																										TCGA-VN-A88N-01A-11D-A364-08	TCGA-VN-A88N-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d074f30a-3b97-4e7d-a291-576c573768e9	a8f14eb8-6c49-4824-95e3-5d14cfe55729	g.chrX:39932270_39932279delGATGTAACTT	ENST00000378444.4	-	4	2548_2557	c.2320_2329delAAGTTACATC	c.(2320-2331)aagttacatccafs	p.KLHP774fs	BCOR_ENST00000397354.3_Frame_Shift_Del_p.KLHP774fs|BCOR_ENST00000378455.4_Frame_Shift_Del_p.KLHP774fs|BCOR_ENST00000342274.4_Frame_Shift_Del_p.KLHP774fs	NM_001123385.1	NP_001116857.1	Q6W2J9	BCOR_HUMAN	BCL6 corepressor	774					heart development (GO:0007507)|histone H2A monoubiquitination (GO:0035518)|negative regulation of bone mineralization (GO:0030502)|negative regulation of histone H3-K36 methylation (GO:0000415)|negative regulation of histone H3-K4 methylation (GO:0051572)|negative regulation of tooth mineralization (GO:0070171)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|odontogenesis (GO:0042476)|palate development (GO:0060021)|specification of axis polarity (GO:0065001)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	heat shock protein binding (GO:0031072)|histone deacetylase binding (GO:0042826)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						GGGACATCTGGATGTAACTTGGTGCTGCTA	0.524			"F, N, S, T"	RARA	"retinoblastoma, AML, APL(translocation)"		oculo-facio-cardio-dental genetic																															ENST00000342274.4				Rec	yes		X	Xp11.4	54880	"F, N, S, T"	BCL6 corepressor	yes	oculo-facio-cardio-dental genetic		RARA		"retinoblastoma, AML, APL(translocation)"		0				breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						c.(2320-2331)cafs		BCL6 corepressor																																				SO:0001589	frameshift_variant	54880				heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent	nucleus	heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding	g.chrX:39932270_39932279delGATGTAACTT	AF317391	CCDS14250.1, CCDS48092.1, CCDS48093.1	Xp11.4	2014-09-17	2010-06-10		ENSG00000183337	ENSG00000183337		"Ankyrin repeat domain containing"	20893	protein-coding gene	gene with protein product		300485	"BCL6 co-repressor"			10898795	Standard	NM_017745		Approved	FLJ20285, KIAA1575	uc004den.4	Q6W2J9	OTTHUMG00000024100	ENST00000378444.4:c.2320_2329delAAGTTACATC	X.37:g.39932270_39932279delGATGTAACTT	ENSP00000367705:p.Lys774fs					BCOR_ENST00000378444.4_Frame_Shift_Del_p.KLHP774fs|BCOR_ENST00000378455.4_Frame_Shift_Del_p.KLHP774fs|BCOR_ENST00000397354.3_Frame_Shift_Del_p.KLHP774fs	p.KLHP774fs	NM_001123383.1	NP_001116855.1	Q6W2J9	BCOR_HUMAN			4	2682_2691	-			774					D3DWB3|D3DWB4|Q29RF6|Q6P4B6|Q7Z2K7|Q8TEB4|Q96DB3|Q9H232|Q9H233|Q9HCJ7|Q9NXF2	Frame_Shift_Del	DEL	ENST00000378444.4	37	c.2320_2329delAAGTTACATC	CCDS48093.1																																																																																				0.524	BCOR-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060666.2	NM_017745		71	58						71	58	---	---	---	---	-	39932279	GATGTAACTT	-	39932270	7	5	403	1	0	1	0	1	0	0	0	0	1386	1174	41	0	2986	0	BCOR	23	39932270	Frame_Shift_Del	DEL	GATGTAACTT	TCGA-VN-A88N-01A-11D-A364-08		39932270	115338290	34	19624											
IL1RAPL2	26280	broad.mit.edu	37	chrX	104984612	104984612	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	actcagttgtggaagctgacCtggcgaattatacctgccat	10	11	10	10	1	1	1	1	1	0	0	1	3	1	2	3	2	3	2	3	2	4	3			TCGA-VN-A88N-01A-11D-A364-08	TCGA-VN-A88N-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d074f30a-3b97-4e7d-a291-576c573768e9	a8f14eb8-6c49-4824-95e3-5d14cfe55729	g.chrX:104984612C>A	ENST00000372582.1	+	8	1732	c.976C>A	c.(976-978)Ctg>Atg	p.L326M	IL1RAPL2_ENST00000344799.4_Missense_Mutation_p.L326M	NM_017416.1	NP_059112.1	Q9NP60	IRPL2_HUMAN	interleukin 1 receptor accessory protein-like 2	326	Ig-like C2-type 3.				central nervous system development (GO:0007417)|cytokine-mediated signaling pathway (GO:0019221)	integral component of membrane (GO:0016021)	interleukin-1 receptor activity (GO:0004908)|interleukin-1, Type II, blocking receptor activity (GO:0004910)			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(23)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						GGAAGCTGACCTGGCGAATTA	0.398																																						ENST00000372582.1																			0				breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(23)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						c.(976-978)Ctg>Atg		interleukin 1 receptor accessory protein-like 2							76	69	71					X																	104984612		2203	4300	6503	SO:0001583	missense	26280				central nervous system development|innate immune response	integral to membrane	interleukin-1, Type II, blocking receptor activity	g.chrX:104984612C>A	AF181285	CCDS14517.1	Xq22	2013-01-11			ENSG00000189108	ENSG00000189108		"Interleukins and interleukin receptors", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5997	protein-coding gene	gene with protein product		300277				10757639	Standard	NM_017416		Approved	IL-1R9, TIGIRR-1, IL1RAPL-2, IL1R9	uc004elz.1	Q9NP60	OTTHUMG00000022141	ENST00000372582.1:c.976C>A	X.37:g.104984612C>A	ENSP00000361663:p.Leu326Met					IL1RAPL2_ENST00000344799.4_Missense_Mutation_p.L326M	p.L326M	NM_017416.1	NP_059112.1	Q9NP60	IRPL2_HUMAN			8	1732	+			326			Ig-like C2-type 3.		Q2M3U3|Q9NZN0	Missense_Mutation	SNP	ENST00000372582.1	37	c.976C>A	CCDS14517.1	.	.	.	.	.	.	.	.	.	.	C	18.24	3.581365	0.65992	.	.	ENSG00000189108	ENST00000372582;ENST00000344799	T;T	0.03358	3.96;3.96	5.88	3.73	0.42828	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.52532	D	0.000063	T	0.04770	0.0129	L	0.41356	1.27	0.80722	D	1	D	0.53745	0.962	P	0.45681	0.49	T	0.51671	-0.8676	10	0.39692	T	0.17	.	8.9813	0.35966	0.0:0.7903:0.0:0.2097	.	326	Q9NP60	IRPL2_HUMAN	M	326	ENSP00000361663:L326M;ENSP00000344976:L326M	ENSP00000344976:L326M	L	+	1	2	IL1RAPL2	104871268	0.996000	0.38824	1.000000	0.80357	0.996000	0.88848	0.821000	0.27338	0.957000	0.37930	0.600000	0.82982	CTG		0.398	IL1RAPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057785.1	NM_017416		48	19	1	0	8.00217e-19	1	8.8229e-19	48	19					A	104984612	C	A	104984612	3	1	403	1	0	0	0	0	1	0	0	0	7662	680	24	5	1002	5	IL1RAPL2	23	104984612	Missense_Mutation	SNP	C	TCGA-VN-A88N-01A-11D-A364-08	65052342	104984612	50285948	35	19625											
KIF1B	23095	broad.mit.edu	37	chr1	10364265	10364265	+	Intron	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aagaagagagccaagaaaaaGggggtaaaggagcttttaag	19	5	14	3	0	0	3	0	0	0	3	0	5	0	4	1	3	2	2	1	3	8	3			TCGA-VN-A88O-01A-11D-A34U-08	TCGA-VN-A88O-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18fadec2-995f-42b3-9f32-ac72d2670608	4756e8c9-7e46-469b-9b86-7683252186f5	g.chr1:10364265G>A	ENST00000377086.1	+	22	2317				KIF1B_ENST00000263934.6_Intron|KIF1B_ENST00000377083.1_Missense_Mutation_p.G1008R|KIF1B_ENST00000377093.4_Missense_Mutation_p.G1008R|RN7SL731P_ENST00000584329.1_RNA|KIF1B_ENST00000377081.1_Intron			O60333	KIF1B_HUMAN	kinesin family member 1B						anterograde axon cargo transport (GO:0008089)|apoptotic process (GO:0006915)|cytoskeleton-dependent intracellular transport (GO:0030705)|microtubule-based movement (GO:0007018)|mitochondrion transport along microtubule (GO:0047497)|neuromuscular synaptic transmission (GO:0007274)|neuron-neuron synaptic transmission (GO:0007270)|vesicle-mediated transport (GO:0016192)	cytoplasmic vesicle (GO:0031410)|cytoplasmic vesicle membrane (GO:0030659)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|kinesin binding (GO:0019894)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)			breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2)	71	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)		CCAAGAAAAAGGGGGTAAAGG	0.413																																						ENST00000377093.4																			0				breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2)	71						c.(3022-3024)Ggg>Agg		kinesin family member 1B							112	121	118					1																	10364265		2203	4300	6503	SO:0001627	intron_variant	23095				anterograde axon cargo transport|apoptosis|neuromuscular synaptic transmission|neuron-neuron synaptic transmission	cytoplasmic vesicle membrane|microtubule|microtubule associated complex|mitochondrion	ATP binding|ATPase activity|kinesin binding|microtubule motor activity|protein binding	g.chr1:10364265G>A	AF257176	CCDS111.1, CCDS112.1	1p36.22	2014-09-17			ENSG00000054523	ENSG00000054523		"Kinesins", "Pleckstrin homology (PH) domain containing"	16636	protein-coding gene	gene with protein product		605995		CMT2A, CMT2		11389829, 10762626	Standard	NM_015074		Approved	KIAA0591, KLP, HMSNII	uc001aqw.4	O60333	OTTHUMG00000001817	ENST00000377086.1:c.2115+6961G>A	1.37:g.10364265G>A						KIF1B_ENST00000377083.1_Missense_Mutation_p.G1008R|KIF1B_ENST00000377086.1_Intron|KIF1B_ENST00000263934.6_Intron|KIF1B_ENST00000377081.1_Intron	p.G1008R	NM_183416.3	NP_904325.2	O60333	KIF1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)	21	3175	+	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)	0					A6NFS8|A6NKQ4|Q4VXC3|Q4VXC4|Q4VXC5|Q4VXC6|Q96Q94|Q9BV80|Q9P280	Missense_Mutation	SNP	ENST00000377086.1	37	c.3022G>A		.	.	.	.	.	.	.	.	.	.	G	8.022	0.759801	0.15846	.	.	ENSG00000054523	ENST00000377093;ENST00000377083	T;T	0.72725	-0.68;-0.68	5.48	3.27	0.37495	.	.	.	.	.	T	0.57066	0.2028	.	.	.	0.20196	N	0.999925	B	0.18863	0.031	B	0.24006	0.05	T	0.44003	-0.9356	8	0.23891	T	0.37	.	11.1421	0.48408	0.1684:0.0:0.8316:0.0	.	1008	O60333-3	.	R	1008	ENSP00000366297:G1008R;ENSP00000366287:G1008R	ENSP00000366287:G1008R	G	+	1	0	KIF1B	10286852	0.552000	0.26505	0.565000	0.28409	0.635000	0.38103	2.230000	0.42999	1.318000	0.45170	0.655000	0.94253	GGG		0.413	KIF1B-001	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000005102.1			7	151	0	0	0	1	0	7	151					A	10364265	G	A	10364265	1	1	404	0	1	0	0	0	0	0	0	0	8284	1000	35	3		3	KIF1B	1	10364265	Intron	SNP	G	TCGA-VN-A88O-01A-11D-A34U-08		10364265	238886356	1	19626											
FBXO42	54455	broad.mit.edu	37	chr1	16641764	16641764	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tactccaaaacctcttctggCagctccgacatggacctatt	10	11	6	14	1	2	0	0	0	2	0	4	2	4	1	4	2	3	2	4	2	4	4			TCGA-VN-A88O-01A-11D-A34U-08	TCGA-VN-A88O-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18fadec2-995f-42b3-9f32-ac72d2670608	4756e8c9-7e46-469b-9b86-7683252186f5	g.chr1:16641764C>A	ENST00000375592.3	-	2	366	c.150G>T	c.(148-150)ctG>ctT	p.L50L	FBXO42_ENST00000478089.1_5'UTR	NM_018994.1	NP_061867.1	Q6P3S6	FBX42_HUMAN	F-box protein 42	50	F-box. {ECO:0000255|PROSITE- ProRule:PRU00080}.									autonomic_ganglia(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	26		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00475)|all_lung(284;0.00671)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0193)|Colorectal(212;3.16e-07)|COAD - Colon adenocarcinoma(227;1.46e-05)|BRCA - Breast invasive adenocarcinoma(304;4.37e-05)|Kidney(64;0.000246)|KIRC - Kidney renal clear cell carcinoma(64;0.00336)|STAD - Stomach adenocarcinoma(313;0.0139)|READ - Rectum adenocarcinoma(331;0.0693)		CCTCTTCTGGCAGCTCCGACA	0.488																																						ENST00000375592.3																			0				autonomic_ganglia(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	26						c.(148-150)ctG>ctT		F-box protein 42							127	109	115					1																	16641764		2203	4300	6503	SO:0001819	synonymous_variant	54455							g.chr1:16641764C>A	BC063864	CCDS30613.1	1p36.23-p36.11	2008-02-05			ENSG00000037637	ENSG00000037637		"F-boxes /  "other""	29249	protein-coding gene	gene with protein product		609109				10718198	Standard	XM_006710698		Approved	KIAA1332, Fbx42	uc001ayg.3	Q6P3S6	OTTHUMG00000002218	ENST00000375592.3:c.150G>T	1.37:g.16641764C>A						FBXO42_ENST00000478089.1_5'UTR	p.L50L	NM_018994.1	NP_061867.1	Q6P3S6	FBX42_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0193)|Colorectal(212;3.16e-07)|COAD - Colon adenocarcinoma(227;1.46e-05)|BRCA - Breast invasive adenocarcinoma(304;4.37e-05)|Kidney(64;0.000246)|KIRC - Kidney renal clear cell carcinoma(64;0.00336)|STAD - Stomach adenocarcinoma(313;0.0139)|READ - Rectum adenocarcinoma(331;0.0693)	2	366	-		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00475)|all_lung(284;0.00671)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)	50			F-box.		B3KP30|Q5TEU8|Q86XI0|Q8N3N4|Q8N5F8|Q9BRM0|Q9P2L4	Silent	SNP	ENST00000375592.3	37	c.150G>T	CCDS30613.1																																																																																				0.488	FBXO42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006285.1			9	69	1	0	0.0581538	1	0.0610138	9	69					A	16641764	C	A	16641764	2	1	404	1	0	0	0	0	0	0	0	1	5751	697	25	5		5	FBXO42	1	16641764	Silent	SNP	C	TCGA-VN-A88O-01A-11D-A34U-08	6277499	16641764	232608857	2	19627											
ACTL8	81569	broad.mit.edu	37	chr1	18152553	18152553	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcagatgaacaagtgctacGtgccgcagaatctgggggag	11	7	14	9	2	2	3	1	1	1	2	2	4	2	4	1	2	4	2	1	2	4	1			TCGA-VN-A88O-01A-11D-A34U-08	TCGA-VN-A88O-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18fadec2-995f-42b3-9f32-ac72d2670608	4756e8c9-7e46-469b-9b86-7683252186f5	g.chr1:18152553G>A	ENST00000375406.1	+	3	856	c.640G>A	c.(640-642)Gtg>Atg	p.V214M		NM_030812.2	NP_110439.2	Q9H568	ACTL8_HUMAN	actin-like 8	214					epithelial cell differentiation (GO:0030855)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(10)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	28		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00186)|all_lung(284;0.0054)|Lung NSC(340;0.00566)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;6.43e-06)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.00652)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201)		CAAGTGCTACGTGCCGCAGAA	0.567											OREG0013157	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000375406.1																			0				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(10)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	28						c.(640-642)Gtg>Atg		actin-like 8							44	46	45					1																	18152553		2203	4300	6503	SO:0001583	missense	81569					cytoplasm|cytoskeleton		g.chr1:18152553G>A	AK057339	CCDS183.1	1p36.2-p35	2009-03-25			ENSG00000117148	ENSG00000117148			24018	protein-coding gene	gene with protein product	"cancer/testis antigen 57"						Standard	NM_030812		Approved	CT57	uc001bat.3	Q9H568	OTTHUMG00000002512	ENST00000375406.1:c.640G>A	1.37:g.18152553G>A	ENSP00000364555:p.Val214Met		OREG0013157	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	723		p.V214M	NM_030812.2	NP_110439.2	Q9H568	ACTL8_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;6.43e-06)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.00652)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201)	3	856	+		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00186)|all_lung(284;0.0054)|Lung NSC(340;0.00566)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)	214					Q13104|Q96M75	Missense_Mutation	SNP	ENST00000375406.1	37	c.640G>A	CCDS183.1	.	.	.	.	.	.	.	.	.	.	G	17.83	3.484423	0.63962	.	.	ENSG00000117148	ENST00000375406	D	0.97352	-4.35	5.25	4.31	0.51392	.	0.000000	0.40728	N	0.001023	D	0.98639	0.9544	M	0.92691	3.335	0.37170	D	0.903023	D	0.89917	1.0	D	0.72625	0.978	D	0.99959	1.1683	10	0.87932	D	0	-47.031	13.6925	0.62556	0.0:0.1564:0.8436:0.0	.	214	Q9H568	ACTL8_HUMAN	M	214	ENSP00000364555:V214M	ENSP00000364555:V214M	V	+	1	0	ACTL8	18025140	1.000000	0.71417	0.969000	0.41365	0.267000	0.26476	6.869000	0.75521	1.287000	0.44583	0.655000	0.94253	GTG		0.567	ACTL8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007143.1	NM_030812		9	48	0	0	0	1	0	9	48					A	18152553	G	A	18152553	3	1	404	1	0	0	0	0	1	0	0	0	202	1145	40	1	646	1	ACTL8	1	18152553	Missense_Mutation	SNP	G	TCGA-VN-A88O-01A-11D-A34U-08	1510789	18152553	231098068	3	19628											
ZMYND12	84217	broad.mit.edu	37	chr1	42915623	42915623	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgctgcaggccatgctgcCgttcttcctctgaattgtag	5	13	11	12	1	2	1	0	1	2	0	3	1	3	1	3	1	4	6	3	1	2	4			TCGA-VN-A88O-01A-11D-A34U-08	TCGA-VN-A88O-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18fadec2-995f-42b3-9f32-ac72d2670608	4756e8c9-7e46-469b-9b86-7683252186f5	g.chr1:42915623C>T	ENST00000372565.3	-	2	487	c.218G>A	c.(217-219)cGg>cAg	p.R73Q	ZMYND12_ENST00000433602.2_Silent_p.T20T	NM_032257.4	NP_115633.3	Q9H0C1	ZMY12_HUMAN	zinc finger, MYND-type containing 12	73						intracellular (GO:0005622)	metal ion binding (GO:0046872)			NS(1)|endometrium(2)|large_intestine(3)|lung(5)|ovary(2)|prostate(2)|skin(2)	17	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				GCCATGCTGCCGTTCTTCCTC	0.547																																						ENST00000372565.3																			0				NS(1)|endometrium(2)|large_intestine(3)|lung(5)|ovary(2)|prostate(2)|skin(2)	17						c.(217-219)cGg>cAg		zinc finger, MYND-type containing 12							89	78	82					1																	42915623		2203	4300	6503	SO:0001583	missense	84217					intracellular	zinc ion binding	g.chr1:42915623C>T	AK057384	CCDS467.1	1p34.1	2008-02-05			ENSG00000066185	ENSG00000066185		"Zinc fingers, MYND-type"	21192	protein-coding gene	gene with protein product						11230166	Standard	NM_032257		Approved	DKFZp434N2435	uc001chj.3	Q9H0C1	OTTHUMG00000007333	ENST00000372565.3:c.218G>A	1.37:g.42915623C>T	ENSP00000361646:p.Arg73Gln					ZMYND12_ENST00000433602.2_Silent_p.T20T	p.R73Q	NM_032257.4	NP_115633.3	Q9H0C1	ZMY12_HUMAN			2	487	-	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)	73					Q5VUS6|Q8TC87|Q96M51	Missense_Mutation	SNP	ENST00000372565.3	37	c.218G>A	CCDS467.1	.	.	.	.	.	.	.	.	.	.	C	32	5.170111	0.94768	.	.	ENSG00000066185	ENST00000372565	T	0.54866	0.55	5.47	5.47	0.80525	.	0.230857	0.43110	D	0.000614	T	0.72431	0.3459	.	.	.	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	T	0.73275	-0.4034	9	0.49607	T	0.09	-17.2609	16.8089	0.85713	0.0:1.0:0.0:0.0	.	73	Q9H0C1	ZMY12_HUMAN	Q	73	ENSP00000361646:R73Q	ENSP00000361646:R73Q	R	-	2	0	ZMYND12	42688210	0.998000	0.40836	0.997000	0.53966	0.975000	0.68041	5.626000	0.67777	2.575000	0.86900	0.313000	0.20887	CGG		0.547	ZMYND12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019170.1	NM_032257		13	86	0	0	0	1	0	13	86					T	42915623	C	T	42915623	3	4	404	1	0	0	0	0	1	0	0	0	17704	652	23	2	907	2	ZMYND12	1	42915623	Missense_Mutation	SNP	C	TCGA-VN-A88O-01A-11D-A34U-08	24763070	42915623	206334998	4	19629											
OMA1	115209	broad.mit.edu	37	chr1	59004846	59004846	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tactatatggttaacttgtaCttgatgacagccccgtgagg	10	13	10	8	1	0	3	0	3	0	0	0	3	0	3	2	2	4	2	2	2	5	7			TCGA-VN-A88O-01A-11D-A34U-08	TCGA-VN-A88O-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18fadec2-995f-42b3-9f32-ac72d2670608	4756e8c9-7e46-469b-9b86-7683252186f5	g.chr1:59004846C>G	ENST00000371226.3	-	2	234	c.121G>C	c.(121-123)Gta>Cta	p.V41L	OMA1_ENST00000358603.2_Missense_Mutation_p.V41L|DAB1_ENST00000485760.1_Intron|OMA1_ENST00000467063.1_Intron	NM_145243.3	NP_660286.1	Q96E52	OMA1_HUMAN	OMA1 zinc metallopeptidase	41					cristae formation (GO:0042407)|diet induced thermogenesis (GO:0002024)|energy homeostasis (GO:0097009)|glucose metabolic process (GO:0006006)|lipid metabolic process (GO:0006629)|misfolded or incompletely synthesized protein catabolic process (GO:0006515)|mitochondrial protein processing (GO:0034982)|negative regulation of mitochondrial fusion (GO:0010637)|response to stress (GO:0006950)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial membrane (GO:0031966)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			NS(1)|breast(1)|large_intestine(6)|liver(2)|lung(6)|prostate(1)|skin(1)	18	all_cancers(7;6.54e-05)					TTAACTTGTACTTGATGACAG	0.393																																						ENST00000371226.3																			0				NS(1)|breast(1)|large_intestine(6)|liver(2)|lung(6)|prostate(1)|skin(1)	18						c.(121-123)Gta>Cta		OMA1 zinc metallopeptidase							106	108	107					1																	59004846		2203	4300	6503	SO:0001583	missense	115209				proteolysis	integral to membrane|mitochondrial membrane	metal ion binding|metalloendopeptidase activity	g.chr1:59004846C>G	AK091101	CCDS608.1	1p32.2-p32.1	2013-05-03	2013-05-03		ENSG00000162600	ENSG00000162600			29661	protein-coding gene	gene with protein product	"overlapping activity with M-AAA protease", "zinc metallopeptidase OMA1"		"OMA1 zinc metallopeptidase homolog (S. cerevisiae)"			12477932	Standard	NM_145243		Approved	MPRP-1, YKR087C, ZMPOMA1, FLJ33782	uc001cyy.3	Q96E52	OTTHUMG00000010068	ENST00000371226.3:c.121G>C	1.37:g.59004846C>G	ENSP00000360270:p.Val41Leu					DAB1_ENST00000485760.1_Intron|OMA1_ENST00000358603.2_Missense_Mutation_p.V41L|OMA1_ENST00000467063.1_Intron	p.V41L	NM_145243.3	NP_660286.1	Q96E52	OMA1_HUMAN			2	234	-	all_cancers(7;6.54e-05)		41					D3DQ54|Q5T3G6|Q5T3G7|Q5T3G8|Q5T3G9|Q5T3H0|Q8NBB3	Missense_Mutation	SNP	ENST00000371226.3	37	c.121G>C	CCDS608.1	.	.	.	.	.	.	.	.	.	.	C	13.41	2.228890	0.39399	.	.	ENSG00000162600	ENST00000358603;ENST00000371226;ENST00000456980;ENST00000419242;ENST00000426139;ENST00000453710	T;T;T;T;T;T	0.33216	2.44;2.45;1.85;1.84;1.84;1.42	4.99	4.05	0.47172	.	0.903468	0.09368	N	0.811746	T	0.26810	0.0656	L	0.51422	1.61	0.09310	N	1	B;P	0.36837	0.435;0.571	B;B	0.30855	0.057;0.121	T	0.11299	-1.0593	9	.	.	.	-2.2897	9.865	0.41138	0.1564:0.6924:0.1512:0.0	.	41;41	Q96E52;Q96E52-2	OMA1_HUMAN;.	L	41	ENSP00000351417:V41L;ENSP00000360270:V41L;ENSP00000395053:V41L;ENSP00000409589:V41L;ENSP00000416495:V41L;ENSP00000392978:V41L	.	V	-	1	0	OMA1	58777434	0.014000	0.17966	0.015000	0.15790	0.317000	0.28152	2.481000	0.45215	1.445000	0.47624	0.591000	0.81541	GTA		0.393	OMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027819.1	NM_145243		13	149	0	0	0	1	0	13	149					G	59004846	C	G	59004846	3	3	404	1	0	0	0	0	1	0	0	0	10864	565	20	5	1485	5	OMA1	1	59004846	Missense_Mutation	SNP	C	TCGA-VN-A88O-01A-11D-A34U-08	16089223	59004846	190245775	5	19630											
ZNF326	284695	broad.mit.edu	37	chr1	90475763	90475764	+	Frame_Shift_Ins	INS	-	-	T																															agagaaaaatgatgcagccaINStttaataagcccagtggaac																										TCGA-VN-A88O-01A-11D-A34U-08	TCGA-VN-A88O-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18fadec2-995f-42b3-9f32-ac72d2670608	4756e8c9-7e46-469b-9b86-7683252186f5	g.chr1:90475763_90475764insT	ENST00000340281.4	+	6	875_876	c.732_733insT	c.(733-735)tttfs	p.F245fs	ZNF326_ENST00000455342.2_Frame_Shift_Ins_p.F39fs|ZNF326_ENST00000370447.3_Frame_Shift_Ins_p.F156fs	NM_182976.2	NP_892021.1	Q5BKZ1	ZN326_HUMAN	zinc finger protein 326	245					mRNA processing (GO:0006397)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of DNA-templated transcription, elongation (GO:0032784)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	DBIRD complex (GO:0044609)|nuclear matrix (GO:0016363)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|RNA polymerase II core binding (GO:0000993)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(7)|ovary(1)	25		all_lung(203;0.0116)|Lung NSC(277;0.0417)		all cancers(265;0.00728)|Epithelial(280;0.0265)		TGATGCAGCCATTTAATAAGCC	0.386																																						ENST00000340281.4																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(7)|ovary(1)	25						c.(730-735)ccttaafs		zinc finger protein 326																																				SO:0001589	frameshift_variant	284695				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear matrix	DNA binding	g.chr1:90475763_90475764insT	BC013102	CCDS727.1, CCDS728.1	1p22	2012-04-19			ENSG00000162664	ENSG00000162664		"Zinc fingers, C2H2-type"	14104	protein-coding gene	gene with protein product	"ZNF-protein interacting with nuclear mRNPs and DBC1"	614601				22446626	Standard	NM_182976		Approved	Zfp326, ZAN75, FLJ20403, ZIRD	uc001dnq.2	Q5BKZ1	OTTHUMG00000010675	ENST00000340281.4:c.735dupT	1.37:g.90475766_90475766dupT	ENSP00000340796:p.Phe245fs					ZNF326_ENST00000455342.2_Frame_Shift_Ins_p.*39fs|ZNF326_ENST00000370447.2_Frame_Shift_Ins_p.*156fs	p.*245fs	NM_182976.2	NP_892021.1	Q5BKZ1	ZN326_HUMAN		all cancers(265;0.00728)|Epithelial(280;0.0265)	6	875_876	+		all_lung(203;0.0116)|Lung NSC(277;0.0417)	245					A8MYX1|B4DLN0|B4E179|Q5VW93|Q5VW94|Q5VW96|Q5VW97|Q6NSA2|Q7Z638|Q7Z6C2	Frame_Shift_Ins	INS	ENST00000340281.4	37	c.732_733insT	CCDS727.1																																																																																				0.386	ZNF326-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029428.2	NM_181781		28	67						28	67	---	---	---	---	T	90475764	-	T	90475763	7	5	404	1	0	1	1	0	0	0	0	0	17843	204	8	0	758	0	ZNF326	1	90475763	Frame_Shift_Ins	INS	-	TCGA-VN-A88O-01A-11D-A34U-08	31470917	90475763	158774858	6	19631											
PROKR1	10887	broad.mit.edu	37	chr2	68882445	68882445	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tctacggcttcaccatcgtgCgcgacttcttccccaccgtg	5	11	8	17	5	3	0	1	0	2	0	5	1	4	0	4	1	2	1	4	1	1	4			TCGA-VN-A88O-01A-11D-A34U-08	TCGA-VN-A88O-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18fadec2-995f-42b3-9f32-ac72d2670608	4756e8c9-7e46-469b-9b86-7683252186f5	g.chr2:68882445C>T	ENST00000303786.3	+	3	1339	c.919C>T	c.(919-921)Cgc>Tgc	p.R307C	PROKR1_ENST00000394342.2_Missense_Mutation_p.R307C			Q8TCW9	PKR1_HUMAN	prokineticin receptor 1	307					negative regulation of apoptotic process (GO:0043066)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	neuropeptide Y receptor activity (GO:0004983)			endometrium(3)|kidney(2)|large_intestine(14)|lung(9)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						CACCATCGTGCGCGACTTCTT	0.577																																						ENST00000303786.3																			0				endometrium(3)|kidney(2)|large_intestine(14)|lung(9)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						c.(919-921)Cgc>Tgc		prokineticin receptor 1							151	112	125					2																	68882445		2203	4300	6503	SO:0001583	missense	10887					integral to membrane|plasma membrane	neuropeptide Y receptor activity	g.chr2:68882445C>T	AF506287	CCDS1889.1	2p14	2012-08-08	2006-02-15	2006-02-15	ENSG00000169618	ENSG00000169618		"GPCR / Class A : Prokineticin receptors"	4524	protein-coding gene	gene with protein product		607122	"G protein-coupled receptor 73"	GPR73		10760605	Standard	NM_138964		Approved	PKR1, ZAQ, GPR73a	uc010yqj.2	Q8TCW9	OTTHUMG00000129567	ENST00000303786.3:c.919C>T	2.37:g.68882445C>T	ENSP00000303775:p.Arg307Cys					PROKR1_ENST00000394342.2_Missense_Mutation_p.R307C	p.R307C			Q8TCW9	PKR1_HUMAN			3	1339	+			307					A5JUU2|Q53QT9|Q8NFJ7	Missense_Mutation	SNP	ENST00000303786.3	37	c.919C>T	CCDS1889.1	.	.	.	.	.	.	.	.	.	.	C	26.8	4.768018	0.90020	.	.	ENSG00000169618	ENST00000303786;ENST00000394342	T;T	0.72942	-0.7;-0.7	4.68	4.68	0.58851	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	D	0.82861	0.5129	M	0.76574	2.34	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.81393	-0.0953	10	0.38643	T	0.18	.	15.9178	0.79535	0.0:1.0:0.0:0.0	.	307	Q8TCW9	PKR1_HUMAN	C	307	ENSP00000303775:R307C;ENSP00000377874:R307C	ENSP00000303775:R307C	R	+	1	0	PROKR1	68735949	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.627000	0.67784	2.884000	0.98904	0.655000	0.94253	CGC		0.577	PROKR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251760.2			10	56	0	0	0	1	0	10	56					T	68882445	C	T	68882445	3	4	404	1	0	0	0	0	1	0	0	0	12552	768	27	1	925	1	PROKR1	2	68882445	Missense_Mutation	SNP	C	TCGA-VN-A88O-01A-11D-A34U-08		68882445	174316928	7	19632											
ANTXR1	84168	broad.mit.edu	37	chr2	69472510	69472511	+	Frame_Shift_Ins	INS	-	-	C																															cccgccccccagcgcccctaINScccctcccatcccgtcccca																										TCGA-VN-A88O-01A-11D-A34U-08	TCGA-VN-A88O-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18fadec2-995f-42b3-9f32-ac72d2670608	4756e8c9-7e46-469b-9b86-7683252186f5	g.chr2:69472510_69472511insC	ENST00000303714.4	+	18	1910_1911	c.1588_1589insC	c.(1588-1590)accfs	p.T530fs		NM_032208.2	NP_115584.1	Q9H6X2	ANTR1_HUMAN	anthrax toxin receptor 1	530	Pro-rich.				actin cytoskeleton reorganization (GO:0031532)|reproductive process (GO:0022414)|signal transduction (GO:0007165)|substrate adhesion-dependent cell spreading (GO:0034446)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|filopodium membrane (GO:0031527)|integral component of membrane (GO:0016021)|lamellipodium membrane (GO:0031258)	actin filament binding (GO:0051015)|collagen binding (GO:0005518)|metal ion binding (GO:0046872)|transmembrane signaling receptor activity (GO:0004888)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	29						cagcgcccctacccctcccatc	0.708									Familial Infantile Hemangioma																													ENST00000303714.4																			0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	29						c.(1588-1590)cccfs		anthrax toxin receptor 1																																				SO:0001589	frameshift_variant	84168	Familial Infantile Hemangioma	Familial Cancer Database	Infantile Capillary Hemangioma, HCI, Hereditary Capillary Hemangioma	actin cytoskeleton reorganization|substrate adhesion-dependent cell spreading	filopodium membrane|integral to membrane|lamellipodium membrane	actin filament binding|collagen binding|metal ion binding|protein binding|transmembrane receptor activity	g.chr2:69472510_69472511insC	AF421380	CCDS1892.1, CCDS46313.1, CCDS46314.1	2p13.1	2006-04-12			ENSG00000169604	ENSG00000169604			21014	protein-coding gene	gene with protein product	"anthrax toxin receptor", "tumor endothelial marker 8 precursor"	606410				10947988, 11559528	Standard	NM_032208		Approved	TEM8, FLJ21776, FLJ10601, ATR	uc002sfg.3	Q9H6X2	OTTHUMG00000129575	ENST00000303714.4:c.1592dupC	2.37:g.69472514_69472514dupC	ENSP00000301945:p.Thr530fs						p.P530fs	NM_032208.2	NP_115584.1	Q9H6X2	ANTR1_HUMAN			18	1910_1911	+			530			Pro-rich.		A8K7U8|J7K7G4|J7KF88|Q4ZFV6|Q53QD8|Q96P02|Q9NVP3	Frame_Shift_Ins	INS	ENST00000303714.4	37	c.1588_1589insC	CCDS1892.1																																																																																				0.708	ANTXR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251770.2	NM_032208		2	4						2	4	---	---	---	---	C	69472511	-	C	69472510	7	5	404	1	0	1	1	0	0	0	0	0	711	391	14	0	1735	0	ANTXR1	2	69472510	Frame_Shift_Ins	INS	-	TCGA-VN-A88O-01A-11D-A34U-08	590065	69472510	173726863	8	19633											
EDAR	10913	broad.mit.edu	37	chr2	109545824	109545824	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tagtcctcgtctttggtgccGtagccacaggactgtccagg	6	11	12	12	2	1	0	0	0	1	0	4	1	3	1	4	3	2	1	4	3	2	3			TCGA-VN-A88O-01A-11D-A34U-08	TCGA-VN-A88O-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18fadec2-995f-42b3-9f32-ac72d2670608	4756e8c9-7e46-469b-9b86-7683252186f5	g.chr2:109545824G>A	ENST00000258443.2	-	4	616	c.186C>T	c.(184-186)taC>taT	p.Y62Y	EDAR_ENST00000409271.1_Silent_p.Y62Y|EDAR_ENST00000376651.1_Silent_p.Y62Y	NM_022336.3	NP_071731.1	Q9UNE0	EDAR_HUMAN	ectodysplasin A receptor	62					apoptotic process (GO:0006915)|cell differentiation (GO:0030154)|epidermis development (GO:0008544)|hair follicle development (GO:0001942)|odontogenesis of dentin-containing tooth (GO:0042475)|pigmentation (GO:0043473)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|salivary gland cavitation (GO:0060662)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	16						CTTTGGTGCCGTAGCCACAGG	0.602																																						ENST00000409271.1																			0				NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	16						c.(184-186)taC>taT		ectodysplasin A receptor							53	52	52					2																	109545824		2203	4300	6503	SO:0001819	synonymous_variant	10913				apoptosis|cell differentiation	integral to membrane	protein binding|transmembrane receptor activity	g.chr2:109545824G>A	AF130988	CCDS2081.1	2q13	2013-05-22	2004-08-09		ENSG00000135960	ENSG00000135960		"Tumor necrosis factor receptor superfamily"	2895	protein-coding gene	gene with protein product		604095	"ectodysplasin 1, anhidrotic receptor"	ED3, DL		10431241, 9375732	Standard	NM_022336		Approved	ED5, EDA3, Edar, ED1R, EDA1R	uc002teq.4	Q9UNE0	OTTHUMG00000130982	ENST00000258443.2:c.186C>T	2.37:g.109545824G>A						EDAR_ENST00000376651.1_Silent_p.Y62Y|EDAR_ENST00000258443.2_Silent_p.Y62Y	p.Y62Y			Q9UNE0	EDAR_HUMAN			5	629	-			62					B2R9H2|B4DLC5|D3DX74|E9PC98|Q52LL5|Q9UND9	Silent	SNP	ENST00000258443.2	37	c.186C>T	CCDS2081.1																																																																																				0.602	EDAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253595.1			3	47	0	0	0	1	0	3	47					A	109545824	G	A	109545824	2	1	404	1	0	0	0	0	0	0	0	1	4905	1140	40	1		1	EDAR	2	109545824	Silent	SNP	G	TCGA-VN-A88O-01A-11D-A34U-08	40073314	109545824	133653549	9	19634											
ANAPC1	64682	broad.mit.edu	37	chr2	112605385	112605385	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agtacaatcctcattatagaGagaatcatgaagttttgaag	16	12	8	5	0	2	4	2	2	0	2	3	5	3	4	1	0	1	2	1	0	7	5			TCGA-VN-A88O-01A-11D-A34U-08	TCGA-VN-A88O-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18fadec2-995f-42b3-9f32-ac72d2670608	4756e8c9-7e46-469b-9b86-7683252186f5	g.chr2:112605385G>A	ENST00000341068.3	-	15	2480	c.1708C>T	c.(1708-1710)Ctc>Ttc	p.L570F		NM_022662.3	NP_073153.1	Q9H1A4	APC1_HUMAN	anaphase promoting complex subunit 1	570					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(7)|lung(16)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	49						TCATTATAGAGAGAATCATGA	0.363																																						ENST00000341068.3																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(7)|lung(16)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	49						c.(1708-1710)Ctc>Ttc		anaphase promoting complex subunit 1							50	47	48					2																	112605385		2203	4298	6501	SO:0001583	missense	64682				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm		g.chr2:112605385G>A	AJ278357	CCDS2093.1	2q12.1	2011-06-15			ENSG00000153107	ENSG00000153107		"Anaphase promoting complex subunits"	19988	protein-coding gene	gene with protein product		608473				11179667	Standard	NM_022662		Approved	MCPR, TSG24, APC1	uc002ssh.3	Q9H1A4	OTTHUMG00000131277	ENST00000341068.3:c.1708C>T	2.37:g.112605385G>A	ENSP00000339109:p.Leu570Phe						p.L570F	NM_022662.3	NP_073153.1	Q9H1A4	APC1_HUMAN			15	2480	-			570					Q2M3H8|Q9BSE6|Q9H8D0	Missense_Mutation	SNP	ENST00000341068.3	37	c.1708C>T	CCDS2093.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.39|13.39	2.222463|2.222463	0.39300|0.39300	.|.	.|.	ENSG00000153107|ENSG00000153107	ENST00000341068|ENST00000427997	.|.	.|.	.|.	4.49|4.49	3.59|3.59	0.41128|0.41128	.|.	0.657691|.	0.12332|.	U|.	0.478260|.	T|T	0.27205|0.27205	0.0667|0.0667	N|N	0.17082|0.17082	0.46|0.46	0.31699|0.31699	N|N	0.640893|0.640893	B|.	0.22604|.	0.072|.	B|.	0.21917|.	0.037|.	T|T	0.21280|0.21280	-1.0250|-1.0250	9|5	0.23302|.	T|.	0.38|.	-11.2078|-11.2078	6.4456|6.4456	0.21875|0.21875	0.0902:0.0:0.6076:0.3021|0.0902:0.0:0.6076:0.3021	.|.	570|.	Q9H1A4|.	APC1_HUMAN|.	F|F	570|104	.|.	ENSP00000339109:L570F|.	L|S	-|-	1|2	0|0	ANAPC1|ANAPC1	112321856|112321856	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	1.832000|1.832000	0.39151|0.39151	2.189000|2.189000	0.69895|0.69895	0.557000|0.557000	0.71058|0.71058	CTC|TCT		0.363	ANAPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254045.2	NM_022662		8	168	0	0	0	1	0	8	168					A	112605385	G	A	112605385	3	1	404	1	0	0	0	0	1	0	0	0	598	942	33	3	4262	3	ANAPC1	2	112605385	Missense_Mutation	SNP	G	TCGA-VN-A88O-01A-11D-A34U-08	3059561	112605385	130593988	10	19635											
PTPN4	5775	broad.mit.edu	37	chr2	120567452	120567452	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gacctcacgtttccgattgcCtgctggcagaacctacaatg	9	10	9	13	2	1	1	1	0	0	1	2	3	2	1	4	1	4	3	4	1	3	3			TCGA-VN-A88O-01A-11D-A34U-08	TCGA-VN-A88O-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18fadec2-995f-42b3-9f32-ac72d2670608	4756e8c9-7e46-469b-9b86-7683252186f5	g.chr2:120567452C>G	ENST00000263708.2	+	2	794	c.23C>G	c.(22-24)cCt>cGt	p.P8R	PTPN4_ENST00000460162.1_3'UTR	NM_002830.3	NP_002821.1	P29074	PTN4_HUMAN	protein tyrosine phosphatase, non-receptor type 4 (megakaryocyte)	8					peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoskeleton (GO:0005856)	non-membrane spanning protein tyrosine phosphatase activity (GO:0004726)			endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|urinary_tract(1)	30					Alendronate(DB00630)	TTCCGATTGCCTGCTGGCAGA	0.388																																						ENST00000263708.2																			0				endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|urinary_tract(1)	30						c.(22-24)cCt>cGt		protein tyrosine phosphatase, non-receptor type 4 (megakaryocyte)	Alendronate(DB00630)						128	113	118					2																	120567452		2203	4300	6503	SO:0001583	missense	5775					cytoplasm|cytoskeleton|internal side of plasma membrane	cytoskeletal protein binding|non-membrane spanning protein tyrosine phosphatase activity	g.chr2:120567452C>G		CCDS2129.1	2q14.2	2011-06-09			ENSG00000088179	ENSG00000088179		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"	9656	protein-coding gene	gene with protein product		176878				1648233	Standard	NM_002830		Approved	PTPMEG	uc002tmf.2	P29074	OTTHUMG00000131436	ENST00000263708.2:c.23C>G	2.37:g.120567452C>G	ENSP00000263708:p.Pro8Arg					PTPN4_ENST00000460162.1_3'UTR	p.P8R	NM_002830.3	NP_002821.1	P29074	PTN4_HUMAN			2	794	+			8					B2RBV8|Q9UDA7	Missense_Mutation	SNP	ENST00000263708.2	37	c.23C>G	CCDS2129.1	.	.	.	.	.	.	.	.	.	.	C	27.2	4.811342	0.90707	.	.	ENSG00000088179	ENST00000263708;ENST00000420482;ENST00000488279	T;T;T	0.80304	-0.53;0.99;-1.36	5.94	5.94	0.96194	.	0.000000	0.85682	D	0.000000	D	0.84406	0.5465	L	0.51422	1.61	0.80722	D	1	D	0.61080	0.989	P	0.53689	0.732	T	0.83344	-0.0006	10	0.45353	T	0.12	.	19.9503	0.97197	0.0:1.0:0.0:0.0	.	8	P29074	PTN4_HUMAN	R	8	ENSP00000263708:P8R;ENSP00000405763:P8R;ENSP00000438445:P8R	ENSP00000263708:P8R	P	+	2	0	PTPN4	120283922	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.403000	0.79983	2.812000	0.96745	0.557000	0.71058	CCT		0.388	PTPN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254233.2			36	54	0	0	0	1	0	36	54					G	120567452	C	G	120567452	3	3	404	1	0	0	0	0	1	0	0	0	12790	681	24	5	25	5	PTPN4	2	120567452	Missense_Mutation	SNP	C	TCGA-VN-A88O-01A-11D-A34U-08	7962067	120567452	122631921	11	19636											
NXPH2	11249	broad.mit.edu	37	chr2	139429025	139429027	+	In_Frame_Del	DEL	TGA	TGA	-																															caatggctcctgaatctccgTgatgttggccagccaatccc																										TCGA-VN-A88O-01A-11D-A34U-08	TCGA-VN-A88O-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18fadec2-995f-42b3-9f32-ac72d2670608	4756e8c9-7e46-469b-9b86-7683252186f5	g.chr2:139429025_139429027delTGA	ENST00000272641.3	-	2	366_368	c.260_262delTCA	c.(259-264)atcacg>acg	p.I87del		NM_007226.2	NP_009157.1	O95156	NXPH2_HUMAN	neurexophilin 2	87	II.				neuropeptide signaling pathway (GO:0007218)	extracellular region (GO:0005576)				endometrium(1)|large_intestine(3)|lung(6)|ovary(3)|prostate(3)|skin(3)|urinary_tract(3)	22				BRCA - Breast invasive adenocarcinoma(221;0.101)		TGAATCTCCGTGATGTTGGCCAG	0.488																																						ENST00000272641.3																			0				endometrium(1)|large_intestine(3)|lung(6)|ovary(3)|prostate(3)|skin(3)|urinary_tract(3)	22						c.(259-264)acg>a		neurexophilin 2																																				SO:0001651	inframe_deletion	11249				neuropeptide signaling pathway	extracellular region		g.chr2:139429025_139429027delTGA	AF043467	CCDS46421.1	2q22.1	2008-05-15			ENSG00000144227	ENSG00000144227			8076	protein-coding gene	gene with protein product		604635				9570794	Standard	NM_007226		Approved	NPH2	uc002tvi.3	O95156	OTTHUMG00000153636	ENST00000272641.3:c.260_262delTCA	2.37:g.139429025_139429027delTGA	ENSP00000272641:p.Ile87del						p.IT87del	NM_007226.2	NP_009157.1	O95156	NXPH2_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.101)	2	366_368	-			87			II.		B7WP24|Q494R1|Q75QC3	In_Frame_Del	DEL	ENST00000272641.3	37	c.260_262delTCA	CCDS46421.1																																																																																				0.488	NXPH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331901.1			21	55						21	55	---	---	---	---	-	139429027	TGA	-	139429025	7	5	404	1	0	1	0	1	0	0	0	0	10791	1696	59	0	536	0	NXPH2	2	139429025	In_Frame_Del	DEL	TGA	TCGA-VN-A88O-01A-11D-A34U-08	18861573	139429025	103770348	12	19637											
LY75	4065	broad.mit.edu	37	chr2	160665083	160665083	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacgatagttgcagagtgatCtgttgaaagaaaacacattc	16	10	9	6	1	1	4	0	2	1	2	2	5	1	4	0	0	3	3	0	0	5	4			TCGA-VN-A88O-01A-11D-A34U-08	TCGA-VN-A88O-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18fadec2-995f-42b3-9f32-ac72d2670608	4756e8c9-7e46-469b-9b86-7683252186f5	g.chr2:160665083C>A	ENST00000263636.4	-	33	4727		c.e33-1		LY75_ENST00000554112.1_Splice_Site|LY75-CD302_ENST00000504764.1_Splice_Site|LY75_ENST00000553424.1_Splice_Site|LY75-CD302_ENST00000505052.1_Splice_Site	NM_002349.3	NP_002340.2	O60449	LY75_HUMAN	lymphocyte antigen 75						endocytosis (GO:0006897)|immune response (GO:0006955)|inflammatory response (GO:0006954)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)			NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(22)|prostate(7)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	59				COAD - Colon adenocarcinoma(177;0.132)		GCAGAGTGATCTGTTGAAAGA	0.313																																						ENST00000263636.4																			0				NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(22)|prostate(7)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	59						c.e33-1		lymphocyte antigen 75							130	126	127					2																	160665083		2203	4299	6502	SO:0001630	splice_region_variant	4065							g.chr2:160665083C>A	AF011333	CCDS2211.1	2q24	2011-08-30			ENSG00000054219	ENSG00000054219		"CD molecules", "C-type lectin domain containing"	6729	protein-coding gene	gene with protein product		604524				9553150	Standard	NM_002349		Approved	DEC-205, CLEC13B, CD205		O60449	OTTHUMG00000132025	ENST00000263636.4:c.4700-1G>T	2.37:g.160665083C>A						LY75-CD302_ENST00000505052.1_Splice_Site|LY75-CD302_ENST00000504764.1_Splice_Site|LY75_ENST00000553424.1_Splice_Site|LY75_ENST00000554112.1_Splice_Site		NM_002349.3	NP_002340.2				COAD - Colon adenocarcinoma(177;0.132)	33	4727	-								O75913|Q53R46|Q53TF5|Q7Z575|Q7Z577	Splice_Site	SNP	ENST00000263636.4	37		CCDS2211.1	.	.	.	.	.	.	.	.	.	.	C	11.88	1.769978	0.31320	.	.	ENSG00000054219;ENSG00000054219;ENSG00000054219;ENSG00000248672;ENSG00000248672	ENST00000554112;ENST00000553424;ENST00000263636;ENST00000504764;ENST00000505052	.	.	.	5.55	5.55	0.83447	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.0954	0.93248	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	LY75;LY75-CD302	160373329	1.000000	0.71417	1.000000	0.80357	0.057000	0.15508	5.165000	0.64959	2.606000	0.88127	0.491000	0.48974	.		0.313	LY75-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000255035.1		Intron	10	39	1	0	6.42651e-13	1	8.22594e-13	10	39					A	160665083	C	A	160665083	5	1	404	1	0	0	0	0	0	0	1	0	9099	927	32	5	481	5	LY75	2	160665083	Splice_Site	SNP	C	TCGA-VN-A88O-01A-11D-A34U-08	21236058	160665083	82534290	13	19638											
SLC38A11	151258	broad.mit.edu	37	chr2	165755002	165755002	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtgttgtctgctgaacatgaGactctgaggtatttgtgaga	9	14	13	5	0	2	4	0	4	2	2	2	6	2	4	0	1	2	3	0	1	2	3			TCGA-VN-A88O-01A-11D-A34U-08	TCGA-VN-A88O-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18fadec2-995f-42b3-9f32-ac72d2670608	4756e8c9-7e46-469b-9b86-7683252186f5	g.chr2:165755002G>C	ENST00000409149.3	-	11	1457	c.1166C>G	c.(1165-1167)tCt>tGt	p.S389C	SLC38A11_ENST00000409058.1_Missense_Mutation_p.S420C|SLC38A11_ENST00000409662.1_Missense_Mutation_p.S389C|RNA5SP111_ENST00000411386.1_RNA|SLC38A11_ENST00000303735.4_Missense_Mutation_p.S367C	NM_001199148.1	NP_001186077.1	Q08AI6	S38AB_HUMAN	solute carrier family 38, member 11	389					amino acid transport (GO:0006865)|sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)				endometrium(2)|large_intestine(4)|lung(8)|ovary(1)	15						CTGAACATGAGACTCTGAGGT	0.353																																						ENST00000303735.4																			0				endometrium(2)|large_intestine(4)|lung(8)|ovary(1)	15						c.(1099-1101)tCt>tGt		solute carrier family 38, member 11							81	77	79					2																	165755002		2203	4300	6503	SO:0001583	missense	151258				amino acid transport|sodium ion transport	integral to membrane		g.chr2:165755002G>C		CCDS2224.1, CCDS56142.1	2q24.3	2013-05-22			ENSG00000169507	ENSG00000169507		"Solute carriers"	26836	protein-coding gene	gene with protein product							Standard	NM_173512		Approved	FLJ39822, AVT2	uc002ucw.2	Q08AI6	OTTHUMG00000132144	ENST00000409149.3:c.1166C>G	2.37:g.165755002G>C	ENSP00000386272:p.Ser389Cys					SLC38A11_ENST00000409662.1_Missense_Mutation_p.S389C|SLC38A11_ENST00000409058.1_Missense_Mutation_p.S420C|SLC38A11_ENST00000409149.3_Missense_Mutation_p.S389C	p.S367C	NM_173512.2	NP_775783.1	Q08AI6	S38AB_HUMAN			10	1430	-			389					B4DF99|Q8N887	Missense_Mutation	SNP	ENST00000409149.3	37	c.1100C>G	CCDS56142.1	.	.	.	.	.	.	.	.	.	.	G	12.60	1.986669	0.35036	.	.	ENSG00000169507	ENST00000303735;ENST00000409149;ENST00000409058;ENST00000409662	T;T;T;T	0.18960	2.18;2.18;2.18;2.18	5.56	4.68	0.58851	.	0.306471	0.30723	N	0.009020	T	0.27169	0.0666	L	0.59436	1.845	0.19300	N	0.999971	P;P	0.43885	0.771;0.82	B;B	0.43331	0.321;0.416	T	0.11324	-1.0592	10	0.59425	D	0.04	-21.0106	14.2311	0.65892	0.0727:0.0:0.9273:0.0	.	389;367	Q08AI6;Q08AI6-2	S38AB_HUMAN;.	C	367;389;420;389	ENSP00000306178:S367C;ENSP00000386272:S389C;ENSP00000387345:S420C;ENSP00000386774:S389C	ENSP00000306178:S367C	S	-	2	0	SLC38A11	165463248	0.998000	0.40836	0.107000	0.21349	0.224000	0.24922	2.085000	0.41634	1.361000	0.45981	0.563000	0.77884	TCT		0.353	SLC38A11-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333390.1	NM_173512		3	53	0	0	0	1	0	3	53					C	165755002	G	C	165755002	3	2	404	1	0	0	0	0	1	0	0	0	14603	942	33	5	58	5	SLC38A11	2	165755002	Missense_Mutation	SNP	G	TCGA-VN-A88O-01A-11D-A34U-08	5089919	165755002	77444371	14	19639											
SLC39A10	57181	broad.mit.edu	37	chr2	196545261	196545261	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	acagttgaagtgtctgtaaaAtctgatgataaacatatgca	16	12	8	5	0	2	3	0	3	2	0	2	3	2	3	0	0	2	3	0	0	6	4			TCGA-VN-A88O-01A-11D-A34U-08	TCGA-VN-A88O-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18fadec2-995f-42b3-9f32-ac72d2670608	4756e8c9-7e46-469b-9b86-7683252186f5	g.chr2:196545261A>G	ENST00000409086.3	+	2	770	c.495A>G	c.(493-495)aaA>aaG	p.K165K	SLC39A10_ENST00000541054.1_Intron|SLC39A10_ENST00000359634.5_Silent_p.K165K	NM_001127257.1	NP_001120729.1	Q9ULF5	S39AA_HUMAN	solute carrier family 39 (zinc transporter), member 10	165	His-rich.				transmembrane transport (GO:0055085)|zinc ion transport (GO:0006829)	integral component of membrane (GO:0016021)	metal ion transmembrane transporter activity (GO:0046873)			breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(16)|pancreas(1)|prostate(1)|skin(2)	34			OV - Ovarian serous cystadenocarcinoma(117;0.221)			TGTCTGTAAAATCTGATGATA	0.348																																						ENST00000409086.3																			0				breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(16)|pancreas(1)|prostate(1)|skin(2)	34						c.(493-495)aaA>aaG		solute carrier family 39 (zinc transporter), member 10							110	95	100					2																	196545261		2203	4300	6503	SO:0001819	synonymous_variant	57181				zinc ion transport	integral to membrane	metal ion transmembrane transporter activity	g.chr2:196545261A>G		CCDS33353.1	2q33.1	2013-05-22			ENSG00000196950	ENSG00000196950		"Solute carriers"	20861	protein-coding gene	gene with protein product		608733	"solute carrier family 39 (metal ion transporter), member 10"			12659941	Standard	NM_020342		Approved	KIAA1265, FLJ90515, DKFZp564L2123	uc002utg.4	Q9ULF5	OTTHUMG00000154380	ENST00000409086.3:c.495A>G	2.37:g.196545261A>G						SLC39A10_ENST00000359634.5_Silent_p.K165K|SLC39A10_ENST00000541054.1_Intron	p.K165K	NM_001127257.1	NP_001120729.1	Q9ULF5	S39AA_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.221)		2	770	+			165			His-rich.		A8K5C6|B4DGU0|Q3MJA4|Q68CR5|Q6DKH6|Q9Y3Z1	Silent	SNP	ENST00000409086.3	37	c.495A>G	CCDS33353.1																																																																																				0.348	SLC39A10-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335186.1	XM_047707		14	89	0	0	0	1	0	14	89					G	196545261	A	G	196545261	2	3	404	1	0	0	0	0	0	0	0	1	14613	98	4	4		4	SLC39A10	2	196545261	Silent	SNP	A	TCGA-VN-A88O-01A-11D-A34U-08	30790259	196545261	46654112	15	19640											
CLK1	1195	broad.mit.edu	37	chr2	201724917	201724917	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atcatcctctacactcctggTtcttttccttcggtgactct	5	17	5	14	1	4	1	1	1	3	0	8	1	7	1	3	2	1	1	3	2	1	5			TCGA-VN-A88O-01A-11D-A34U-08	TCGA-VN-A88O-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18fadec2-995f-42b3-9f32-ac72d2670608	4756e8c9-7e46-469b-9b86-7683252186f5	g.chr2:201724917T>C	ENST00000321356.4	-	4	547	c.412A>G	c.(412-414)Acc>Gcc	p.T138A	CLK1_ENST00000434813.2_Missense_Mutation_p.T180A|Y_RNA_ENST00000516950.1_RNA|CLK1_ENST00000492793.1_5'Flank|CLK1_ENST00000409769.2_5'Flank	NM_004071.3	NP_004062.2	P49759	CLK1_HUMAN	CDC-like kinase 1	138					cell proliferation (GO:0008283)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|protein autophosphorylation (GO:0046777)|regulation of RNA splicing (GO:0043484)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)			NS(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(12)|ovary(1)|pancreas(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	33						ACACTCCTGGTTCTTTTCCTT	0.438																																						ENST00000434813.2																			0				NS(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(12)|ovary(1)|pancreas(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	33						c.(538-540)Acc>Gcc		CDC-like kinase 1							190	162	171					2																	201724917		2203	4300	6503	SO:0001583	missense	1195				cell proliferation	nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein serine/threonine kinase activity	g.chr2:201724917T>C	L29219	CCDS2331.1, CCDS54427.1	2q33	2008-05-02			ENSG00000013441	ENSG00000013441		"CDC-like kinases"	2068	protein-coding gene	gene with protein product		601951				9856501	Standard	NM_004071		Approved		uc002uwe.2	P49759	OTTHUMG00000132784	ENST00000321356.4:c.412A>G	2.37:g.201724917T>C	ENSP00000326830:p.Thr138Ala					CLK1_ENST00000321356.4_Missense_Mutation_p.T138A	p.T180A	NM_001162407.1	NP_001155879.1	P49759	CLK1_HUMAN			4	872	-			138			Protein kinase.		B4DFW7|Q0P694|Q8N5V8	Missense_Mutation	SNP	ENST00000321356.4	37	c.538A>G	CCDS2331.1	.	.	.	.	.	.	.	.	.	.	T	8.291	0.817759	0.16607	.	.	ENSG00000013441	ENST00000321356;ENST00000434813	T;T	0.65178	-0.14;-0.13	5.15	-4.24	0.03777	.	0.121353	0.56097	D	0.000027	T	0.25232	0.0613	N	0.02539	-0.55	0.35162	D	0.770755	B;B	0.18166	0.026;0.011	B;B	0.12837	0.008;0.005	T	0.24154	-1.0168	10	0.10636	T	0.68	.	8.749	0.34605	0.7083:0.0:0.0986:0.1931	.	180;138	B4DFW7;P49759	.;CLK1_HUMAN	A	138;180	ENSP00000326830:T138A;ENSP00000394734:T180A	ENSP00000326830:T138A	T	-	1	0	CLK1	201433162	0.997000	0.39634	0.996000	0.52242	0.998000	0.95712	0.510000	0.22723	-0.295000	0.08960	0.528000	0.53228	ACC		0.438	CLK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256192.2			6	83	0	0	0	1	0	6	83					C	201724917	T	C	201724917	3	2	404	1	0	0	0	0	1	0	0	0	3536	1725	60	4	1082	4	CLK1	2	201724917	Missense_Mutation	SNP	T	TCGA-VN-A88O-01A-11D-A34U-08	5179656	201724917	41474456	16	19641											
SPEG	10290	broad.mit.edu	37	chr2	220334050	220334050	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cctaccccaccatcagctggTtccacaatggccaccgcatc	9	7	6	19	1	1	0	1	0	0	0	3	0	2	0	7	2	2	3	7	2	2	2			TCGA-VN-A88O-01A-11D-A34U-08	TCGA-VN-A88O-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18fadec2-995f-42b3-9f32-ac72d2670608	4756e8c9-7e46-469b-9b86-7683252186f5	g.chr2:220334050T>C	ENST00000312358.7	+	13	3796	c.3664T>C	c.(3664-3666)Ttc>Ctc	p.F1222L	SPEG_ENST00000485813.1_3'UTR	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	1222	Ig-like 6.				cardiac muscle cell development (GO:0055013)|in utero embryonic development (GO:0001701)|muscle organ development (GO:0007517)|negative regulation of cell proliferation (GO:0008285)|respiratory system development (GO:0060541)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		CATCAGCTGGTTCCACAATGG	0.642																																						ENST00000312358.7																			0				breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100						c.(3664-3666)Ttc>Ctc		SPEG complex locus							45	55	51					2																	220334050		2169	4258	6427	SO:0001583	missense	10290				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity	g.chr2:220334050T>C	BC006346	CCDS42824.1, CCDS54432.1	2q35	2013-01-11	2006-04-27	2006-04-27	ENSG00000072195	ENSG00000072195		"Immunoglobulin superfamily / I-set domain containing"	16901	protein-coding gene	gene with protein product		615950	"aortic preferentially expressed gene 1"	APEG1		8663449, 10973969	Standard	NM_005876		Approved	MGC12676, KIAA1297, SPEGalpha, SPEGbeta, BPEG	uc010fwg.3	Q15772	OTTHUMG00000058925	ENST00000312358.7:c.3664T>C	2.37:g.220334050T>C	ENSP00000311684:p.Phe1222Leu					SPEG_ENST00000485813.1_3'UTR	p.F1222L	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)	13	3796	+		Renal(207;0.0183)	1222			Ig-like 6.		A8K0G6|A8MRU0|Q27J74|Q695L1|Q6FGA6|Q6ZQW1|Q6ZTL8|Q9P2P9	Missense_Mutation	SNP	ENST00000312358.7	37	c.3664T>C	CCDS42824.1	.	.	.	.	.	.	.	.	.	.	T	21.6	4.179069	0.78564	.	.	ENSG00000072195	ENST00000312358;ENST00000265327	T	0.41400	1.0	4.94	4.94	0.65067	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.44097	D	0.000481	T	0.42245	0.1194	N	0.17872	0.535	0.80722	D	1	D	0.57571	0.98	P	0.54174	0.744	T	0.46091	-0.9216	10	0.72032	D	0.01	.	14.7663	0.69642	0.0:0.0:0.0:1.0	.	1222	Q15772	SPEG_HUMAN	L	1222	ENSP00000311684:F1222L	ENSP00000265327:F1222L	F	+	1	0	SPEG	220042294	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.090000	0.71397	2.081000	0.62600	0.533000	0.62120	TTC		0.642	SPEG-004	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130252.2	NM_005876		3	22	0	0	0	1	0	3	22					C	220334050	T	C	220334050	3	2	404	1	0	0	0	0	1	0	0	0	15035	1725	60	4	3726	4	SPEG	2	220334050	Missense_Mutation	SNP	T	TCGA-VN-A88O-01A-11D-A34U-08	18609133	220334050	22865323	17	19642											
USP40	55230	broad.mit.edu	37	chr2	234434124	234434124	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgttttcatatttatcttacCgccaagtgactggtaaatgt	10	17	7	7	1	2	1	1	1	1	0	2	1	2	1	2	1	1	2	2	1	6	7	rs376670354		TCGA-VN-A88O-01A-11D-A34U-08	TCGA-VN-A88O-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18fadec2-995f-42b3-9f32-ac72d2670608	4756e8c9-7e46-469b-9b86-7683252186f5	g.chr2:234434124C>T	ENST00000427112.2	-	13	1842	c.1807G>A	c.(1807-1809)Ggg>Agg	p.G603R	USP40_ENST00000251722.6_Splice_Site_p.G603R|USP40_ENST00000450966.1_Splice_Site_p.G615R			Q9NVE5	UBP40_HUMAN	ubiquitin specific peptidase 40	603					ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type peptidase activity (GO:0008234)|ubiquitinyl hydrolase activity (GO:0036459)			breast(1)|endometrium(6)|kidney(5)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	30		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0539)		Epithelial(121;1.71e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000407)|Lung(119;0.00277)|LUSC - Lung squamous cell carcinoma(224;0.00646)		TTTATCTTACCGCCAAGTGAC	0.403																																						ENST00000251722.6																			0				breast(1)|endometrium(6)|kidney(5)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	30						c.e14+1		ubiquitin specific peptidase 40		C	ARG/GLY	0,3738		0,0,1869	136	128	130		1843	4.9	0.9	2		130	1,8193		0,1,4096	no	missense-near-splice	USP40	NM_018218.2	125	0,1,5965	TT,TC,CC		0.0122,0.0,0.0084	probably-damaging	615/1248	234434124	1,11931	1869	4097	5966	SO:0001630	splice_region_variant	55230				ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr2:234434124C>T	AK001647	CCDS46547.1	2q37.1	2005-08-08	2005-08-08		ENSG00000085982	ENSG00000085982		"Ubiquitin-specific peptidases"	20069	protein-coding gene	gene with protein product		610570	"ubiquitin specific protease 40"			12838346	Standard	NM_018218		Approved	FLJ10785	uc010zmr.2	Q9NVE5	OTTHUMG00000153199	ENST00000427112.2:c.1807+1G>A	2.37:g.234434124C>T						USP40_ENST00000427112.2_Splice_Site_p.G603_splice|USP40_ENST00000450966.1_Splice_Site_p.G615_splice	p.G603_splice			Q9NVE5	UBP40_HUMAN		Epithelial(121;1.71e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000407)|Lung(119;0.00277)|LUSC - Lung squamous cell carcinoma(224;0.00646)	14	1924	-		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0539)	603					Q6NX38|Q70EL0	Splice_Site	SNP	ENST00000427112.2	37	c.1807_splice	CCDS46547.1	.	.	.	.	.	.	.	.	.	.	C	15.18	2.757879	0.49468	0.0	1.22E-4	ENSG00000085982	ENST00000450966;ENST00000251722;ENST00000427112	T;T;T	0.62941	-0.01;-0.01;-0.01	5.78	4.88	0.63580	.	0.352176	0.32935	N	0.005469	T	0.51568	0.1682	L	0.41824	1.3	0.48571	D	0.999679	P;P	0.47841	0.747;0.901	B;B	0.38985	0.105;0.287	T	0.51020	-0.8758	9	.	.	.	.	13.9803	0.64301	0.0:0.9248:0.0:0.0752	.	603;615	Q9NVE5;Q9NVE5-3	UBP40_HUMAN;.	R	615;603;603	ENSP00000415434:G615R;ENSP00000251722:G603R;ENSP00000387898:G603R	.	G	-	1	0	USP40	234098863	1.000000	0.71417	0.879000	0.34478	0.378000	0.30076	4.955000	0.63638	1.376000	0.46267	0.563000	0.77884	GGG		0.403	USP40-017	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000397235.1	XM_114294	Missense_Mutation	5	40	0	0	0	1	0	5	40					T	234434124	C	T	234434124	5	4	404	1	0	0	0	0	0	0	1	0	17069	666	23	2	1976	2	USP40	2	234434124	Splice_Site	SNP	C	TCGA-VN-A88O-01A-11D-A34U-08	14100074	234434124	8765249	18	19643											
KIF1A	547	broad.mit.edu	37	chr2	241658482	241658482	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcagtggccaggttgagcaCgaaccgctccacggtgtcct	7	7	14	13	3	0	1	0	1	0	0	2	2	2	1	4	4	2	4	4	4	1	1	rs200511467		TCGA-VN-A88O-01A-11D-A34U-08	TCGA-VN-A88O-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18fadec2-995f-42b3-9f32-ac72d2670608	4756e8c9-7e46-469b-9b86-7683252186f5	g.chr2:241658482C>T	ENST00000320389.7	-	45	5010	c.4852G>A	c.(4852-4854)Gtg>Atg	p.V1618M	KIF1A_ENST00000498729.2_Missense_Mutation_p.V1719M	NM_004321.6	NP_004312.2	Q12756	KIF1A_HUMAN	kinesin family member 1A	1618	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				anterograde axon cargo transport (GO:0008089)|ATP catabolic process (GO:0006200)|cell death (GO:0008219)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|motor activity (GO:0003774)|plus-end-directed microtubule motor activity (GO:0008574)			NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)		AGGTTGAGCACGAACCGCTCC	0.662																																						ENST00000498729.2																			0				NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66						c.(5155-5157)Gtg>Atg		kinesin family member 1A		C	MET/VAL	1,4351	2.1+/-5.4	0,1,2175	84	95	91		4852	1.7	0.9	2		91	0,8580		0,0,4290	yes	missense	KIF1A	NM_004321.5	21	0,1,6465	TT,TC,CC		0.0,0.023,0.0077	possibly-damaging	1618/1691	241658482	1,12931	2176	4290	6466	SO:0001583	missense	547				anterograde axon cargo transport	cytoplasm|microtubule|nucleus	ATP binding|microtubule motor activity	g.chr2:241658482C>T	AF004425	CCDS46561.1, CCDS58757.1	2q37.2	2014-09-17	2004-01-09	2004-01-14	ENSG00000130294	ENSG00000130294		"Kinesins", "Pleckstrin homology (PH) domain containing"	888	protein-coding gene	gene with protein product		601255	"axonal transport of synaptic vesicles", "chromosome 2 open reading frame 20", "spastic paraplegia 30 (autosomal recessive)"	ATSV, C2orf20, SPG30		7539720, 10323250, 22258533	Standard	NM_001244008		Approved	UNC104	uc010fzk.3	Q12756	OTTHUMG00000151940	ENST00000320389.7:c.4852G>A	2.37:g.241658482C>T	ENSP00000322791:p.Val1618Met					KIF1A_ENST00000320389.7_Missense_Mutation_p.V1618M	p.V1719M	NM_001244008.1	NP_001230937.1	Q12756	KIF1A_HUMAN		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)	47	5401	-		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)	1618					B0I1S5|F5H045|O95068|Q13355|Q14752|Q2NKJ6|Q4LE42|Q53T78|Q59GH1|Q63Z40|Q6P1R9|Q7KZ57	Missense_Mutation	SNP	ENST00000320389.7	37	c.5155G>A	CCDS46561.1	.	.	.	.	.	.	.	.	.	.	C	13.52	2.262076	0.39995	2.3E-4	0.0	ENSG00000130294	ENST00000320389;ENST00000498729;ENST00000373308	T;T	0.75938	-0.98;-0.98	4.05	1.72	0.24424	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.133468	0.46758	U	0.000275	T	0.68742	0.3034	L	0.50333	1.59	0.33325	D	0.567899	P;P	0.49447	0.924;0.879	B;P	0.49252	0.337;0.604	T	0.73190	-0.4061	10	0.72032	D	0.01	.	3.4744	0.07579	0.0:0.4592:0.2396:0.3012	.	1719;1618	F5H045;Q12756	.;KIF1A_HUMAN	M	1618;1719;1727	ENSP00000322791:V1618M;ENSP00000438388:V1719M	ENSP00000322791:V1618M	V	-	1	0	KIF1A	241307155	1.000000	0.71417	0.904000	0.35570	0.851000	0.48451	1.578000	0.36525	0.653000	0.30826	0.460000	0.39030	GTG		0.662	KIF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324536.3	NM_138483		4	100	0	0	0	1	0	4	100					T	241658482	C	T	241658482	3	4	404	1	0	0	0	0	1	0	0	0	8283	536	19	1	232	1	KIF1A	2	241658482	Missense_Mutation	SNP	C	TCGA-VN-A88O-01A-11D-A34U-08	7224358	241658482	1540891	19	19644											
TBC1D1	23216	broad.mit.edu	37	chr4	38097623	38097623	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	actccctgtcttaaagaagtAactacagtgtgggaaaagat	15	10	9	7	0	1	2	0	0	1	2	2	3	2	3	1	1	2	1	1	1	7	3			TCGA-VN-A88O-01A-11D-A34U-08	TCGA-VN-A88O-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18fadec2-995f-42b3-9f32-ac72d2670608	4756e8c9-7e46-469b-9b86-7683252186f5	g.chr4:38097623A>G	ENST00000261439.4	+	14	2665	c.2310A>G	c.(2308-2310)gtA>gtG	p.V770V	TBC1D1_ENST00000508802.1_Silent_p.V864V	NM_001253914.1|NM_001253915.1|NM_015173.3	NP_001240843.1|NP_001240844.1|NP_055988.2	Q86TI0	TBCD1_HUMAN	TBC1 (tre-2/USP6, BUB2, cdc16) domain family, member 1	770					membrane organization (GO:0061024)|regulation of protein localization (GO:0032880)	cytosol (GO:0005829)|nucleus (GO:0005634)	Rab GTPase activator activity (GO:0005097)			NS(1)|breast(3)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	36						TTAAAGAAGTAACTACAGTGT	0.413																																						ENST00000261439.4																			0				NS(1)|breast(3)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	36						c.(2308-2310)gtA>gtG		TBC1 (tre-2/USP6, BUB2, cdc16) domain family, member 1							117	122	121					4																	38097623		2203	4300	6503	SO:0001819	synonymous_variant	23216					nucleus	Rab GTPase activator activity	g.chr4:38097623A>G	AB029031	CCDS33972.1, CCDS58897.1	4p14	2013-07-09			ENSG00000065882	ENSG00000065882			11578	protein-coding gene	gene with protein product		609850				10965142, 18258599	Standard	NM_015173		Approved	TBC, TBC1, KIAA1108	uc003gtb.3	Q86TI0	OTTHUMG00000150302	ENST00000261439.4:c.2310A>G	4.37:g.38097623A>G						TBC1D1_ENST00000508802.1_Silent_p.V864V	p.V770V	NM_001253914.1|NM_001253915.1|NM_015173.3	NP_001240843.1|NP_001240844.1|NP_055988.2	Q86TI0	TBCD1_HUMAN			14	2665	+			770					B7Z3D9|E9PGH8|Q96K82|Q9UPP4	Silent	SNP	ENST00000261439.4	37	c.2310A>G	CCDS33972.1	.	.	.	.	.	.	.	.	.	.	A	10.47	1.358852	0.24598	.	.	ENSG00000065882	ENST00000510573	.	.	.	5.61	-6.12	0.02124	.	.	.	.	.	T	0.51941	0.1704	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.55302	-0.8162	4	.	.	.	-16.5676	10.723	0.46050	0.3694:0.1144:0.5162:0.0	.	.	.	.	D	458	.	.	N	+	1	0	TBC1D1	37774018	0.003000	0.15002	0.698000	0.30274	0.989000	0.77384	-0.893000	0.04127	-1.193000	0.02688	-0.250000	0.11733	AAC		0.413	TBC1D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317443.2	NM_015173		6	116	0	0	0	1	0	6	116					G	38097623	A	G	38097623	2	3	404	1	0	0	0	0	0	0	0	1	15594	349	13	4		4	TBC1D1	4	38097623	Silent	SNP	A	TCGA-VN-A88O-01A-11D-A34U-08		38097623	153056653	20	19645											
MAP3K1	4214	broad.mit.edu	37	chr5	56160643	56160643	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagccctgaggaaacaaaccGccgtgttaacaaagtgatgc	14	7	10	10	2	0	2	0	2	0	0	0	3	0	3	3	1	5	1	3	1	5	2	rs375262853		TCGA-VN-A88O-01A-11D-A34U-08	TCGA-VN-A88O-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18fadec2-995f-42b3-9f32-ac72d2670608	4756e8c9-7e46-469b-9b86-7683252186f5	g.chr5:56160643G>A	ENST00000399503.3	+	4	917	c.917G>A	c.(916-918)cGc>cAc	p.R306H	AC008937.2_ENST00000415589.1_RNA	NM_005921.1	NP_005912.1	Q13233	M3K1_HUMAN	mitogen-activated protein kinase kinase kinase 1, E3 ubiquitin protein ligase	306					activation of MAPKK activity (GO:0000186)|apoptotic mitochondrial changes (GO:0008637)|cellular response to mechanical stimulus (GO:0071260)|epithelial cell morphogenesis (GO:0003382)|eyelid development in camera-type eye (GO:0061029)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of actin filament polymerization (GO:0030838)|protein phosphorylation (GO:0006468)|regulation of cell migration (GO:0030334)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	cytosol (GO:0005829)	ATP binding (GO:0005524)|JUN kinase kinase activity (GO:0008545)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|zinc ion binding (GO:0008270)	p.R143H(1)		NS(1)|breast(19)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(11)|ovary(1)|skin(3)|urinary_tract(1)	57		Lung NSC(810;4.65e-05)|Prostate(74;0.0132)|Breast(144;0.0321)|Ovarian(174;0.223)		OV - Ovarian serous cystadenocarcinoma(10;6.08e-40)		GAAACAAACCGCCGTGTTAAC	0.488													G|||	1	0.000199681	0	0	5008	,	,		13872	0.001		0	False		,,,				2504	0					ENST00000399503.3																			1	Substitution - Missense(1)	p.R143H(1)	large_intestine(1)	NS(1)|breast(19)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(11)|ovary(1)|skin(3)|urinary_tract(1)	57						c.(916-918)cGc>cAc		mitogen-activated protein kinase kinase kinase 1, E3 ubiquitin protein ligase							89	91	90					5																	56160643		1900	4105	6005	SO:0001583	missense	4214				cellular response to mechanical stimulus|innate immune response|MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol	ATP binding|zinc ion binding	g.chr5:56160643G>A	U29671, AF042838	CCDS43318.1	5q11.2	2012-02-23	2012-02-23		ENSG00000095015	ENSG00000095015		"Mitogen-activated protein kinase cascade / Kinase kinase kinases"	6848	protein-coding gene	gene with protein product		600982	"mitogen-activated protein kinase kinase kinase 1"	MEKK1		8597633	Standard	NM_005921		Approved	MEKK, MAPKKK1	uc003jqw.4	Q13233	OTTHUMG00000059486	ENST00000399503.3:c.917G>A	5.37:g.56160643G>A	ENSP00000382423:p.Arg306His						p.R306H	NM_005921.1	NP_005912.1	Q13233	M3K1_HUMAN		OV - Ovarian serous cystadenocarcinoma(10;6.08e-40)	4	917	+		Lung NSC(810;4.65e-05)|Prostate(74;0.0132)|Breast(144;0.0321)|Ovarian(174;0.223)	306						Missense_Mutation	SNP	ENST00000399503.3	37	c.917G>A	CCDS43318.1	.	.	.	.	.	.	.	.	.	.	G	24.7	4.556833	0.86231	.	.	ENSG00000095015	ENST00000399503	T	0.69806	-0.43	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	T	0.77585	0.4152	L	0.40543	1.245	0.80722	D	1	D	0.89917	1.0	D	0.78314	0.991	T	0.78476	-0.2189	10	0.87932	D	0	.	20.0401	0.97581	0.0:0.0:1.0:0.0	.	306	Q13233	M3K1_HUMAN	H	306	ENSP00000382423:R306H	ENSP00000382423:R306H	R	+	2	0	MAP3K1	56196400	1.000000	0.71417	1.000000	0.80357	0.638000	0.38207	8.498000	0.90492	2.805000	0.96524	0.655000	0.94253	CGC		0.488	MAP3K1-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000132309.2	XM_042066		7	58	0	0	0	1	0	7	58					A	56160643	G	A	56160643	3	1	404	1	0	0	0	0	1	0	0	0	9243	1087	38	1	931	1	MAP3K1	5	56160643	Missense_Mutation	SNP	G	TCGA-VN-A88O-01A-11D-A34U-08		56160643	124754617	21	19646											
FILIP1	27145	broad.mit.edu	37	chr6	76022612	76022612	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	atgtagtaattgtgactgggGacatggctcgttctgggcca	8	12	14	7	1	1	1	0	1	1	0	2	2	1	2	1	4	0	4	1	4	2	4			TCGA-VN-A88O-01A-11D-A34U-08	TCGA-VN-A88O-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18fadec2-995f-42b3-9f32-ac72d2670608	4756e8c9-7e46-469b-9b86-7683252186f5	g.chr6:76022612G>A	ENST00000237172.7	-	5	3266	c.2936C>T	c.(2935-2937)tCc>tTc	p.S979F	FILIP1_ENST00000393004.2_Missense_Mutation_p.S979F|FILIP1_ENST00000498523.1_5'UTR|FILIP1_ENST00000370020.1_Missense_Mutation_p.S880F	NM_015687.2	NP_056502.1	Q7Z7B0	FLIP1_HUMAN	filamin A interacting protein 1	979										breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						TGTGACTGGGGACATGGCTCG	0.448																																						ENST00000393004.2																			0				breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						c.(2935-2937)tCc>tTc		filamin A interacting protein 1							94	91	92					6																	76022612		2203	4300	6503	SO:0001583	missense	27145							g.chr6:76022612G>A	AB033101	CCDS4984.1, CCDS75480.1	6q14.1	2008-02-05			ENSG00000118407	ENSG00000118407			21015	protein-coding gene	gene with protein product		607307				10574462	Standard	XM_005248713		Approved	FILIP, KIAA1275	uc003pia.3	Q7Z7B0	OTTHUMG00000015056	ENST00000237172.7:c.2936C>T	6.37:g.76022612G>A	ENSP00000237172:p.Ser979Phe					FILIP1_ENST00000498523.1_5'UTR|FILIP1_ENST00000237172.7_Missense_Mutation_p.S979F|FILIP1_ENST00000370020.1_Missense_Mutation_p.S880F	p.S979F			Q7Z7B0	FLIP1_HUMAN			5	3157	-			979					B2RMU6|Q5VUL6|Q86TC3|Q8N8B9|Q96SK6|Q9NVI8|Q9ULE5	Missense_Mutation	SNP	ENST00000237172.7	37	c.2936C>T	CCDS4984.1	.	.	.	.	.	.	.	.	.	.	G	27.0	4.793995	0.90453	.	.	ENSG00000118407	ENST00000393004;ENST00000237172;ENST00000370020	T;T;T	0.34472	1.37;1.36;1.37	6.03	6.03	0.97812	.	0.000000	0.85682	D	0.000000	T	0.55130	0.1901	M	0.64404	1.975	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.85130	0.997;0.993;0.997	T	0.54443	-0.8293	10	0.87932	D	0	-12.046	20.5568	0.99304	0.0:0.0:1.0:0.0	.	979;979;979	A8K2G7;Q7Z7B0;Q7Z7B0-2	.;FLIP1_HUMAN;.	F	979;979;880	ENSP00000376728:S979F;ENSP00000237172:S979F;ENSP00000359037:S880F	ENSP00000237172:S979F	S	-	2	0	FILIP1	76079332	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	9.807000	0.99171	2.861000	0.98227	0.655000	0.94253	TCC		0.448	FILIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041263.1	XM_029179		8	171	0	0	0	1	0	8	171					A	76022612	G	A	76022612	3	1	404	1	0	0	0	0	1	0	0	0	5894	1174	41	3	713	3	FILIP1	6	76022612	Missense_Mutation	SNP	G	TCGA-VN-A88O-01A-11D-A34U-08		76022612	95092455	22	19647											
FNDC1	84624	broad.mit.edu	37	chr6	159654416	159654416	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgttcaacagagcacagacGcggacacggagggtcattct	12	7	12	10	3	3	2	2	0	1	2	3	4	3	4	0	3	2	2	0	3	1	2			TCGA-VN-A88O-01A-11D-A34U-08	TCGA-VN-A88O-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18fadec2-995f-42b3-9f32-ac72d2670608	4756e8c9-7e46-469b-9b86-7683252186f5	g.chr6:159654416G>A	ENST00000297267.9	+	11	3072	c.2872G>A	c.(2872-2874)Gcg>Acg	p.A958T	FNDC1_ENST00000340366.6_Missense_Mutation_p.A895T	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	958					cellular response to hypoxia (GO:0071456)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of protein phosphorylation (GO:0001934)|regulation of protein transport (GO:0051223)	cell-cell junction (GO:0005911)|extracellular region (GO:0005576)|mitochondrial membrane (GO:0031966)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		GAGCACAGACGCGGACACGGA	0.622																																						ENST00000297267.9																			0				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93						c.(2872-2874)Gcg>Acg		fibronectin type III domain containing 1							53	64	60					6																	159654416		2175	4262	6437	SO:0001583	missense	84624					extracellular region		g.chr6:159654416G>A	AB058769	CCDS47512.1	6q25	2013-02-11			ENSG00000164694	ENSG00000164694		"Fibronectin type III domain containing"	21184	protein-coding gene	gene with protein product		609991	"fibronectin type III domain containing 2"	FNDC2		11347906	Standard	NM_032532		Approved	bA243O10.1, KIAA1866, dJ322A24.1	uc010kjv.3	Q4ZHG4	OTTHUMG00000015927	ENST00000297267.9:c.2872G>A	6.37:g.159654416G>A	ENSP00000297267:p.Ala958Thr					FNDC1_ENST00000340366.6_Missense_Mutation_p.A895T	p.A958T	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)	11	3072	+		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)	958					A6H8X2|B7ZBR4|B7ZBR5|B9EK49|Q5JPI0|Q5VU31|Q5VU32|Q5VXX4|Q70CQ6|Q96JG1	Missense_Mutation	SNP	ENST00000297267.9	37	c.2872G>A	CCDS47512.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	9.465|9.465	1.093995|1.093995	0.20471|0.20471	.|.	.|.	ENSG00000164694|ENSG00000164694	ENST00000297267;ENST00000340366|ENST00000329629	T;T|.	0.07800|.	3.16;4.0|.	4.26|4.26	-0.353|-0.353	0.12594|0.12594	.|.	2.304150|.	0.01786|.	N|.	0.032055|.	T|T	0.06416|0.06416	0.0165|0.0165	N|N	0.19112|0.19112	0.55|0.55	0.09310|0.09310	N|N	1|1	B;B|.	0.19935|.	0.04;0.024|.	B;B|.	0.11329|.	0.006;0.001|.	T|T	0.35871|0.35871	-0.9771|-0.9771	10|5	0.13108|.	T|.	0.6|.	0.0272|0.0272	1.513|1.513	0.02500|0.02500	0.118:0.1857:0.3177:0.3786|0.118:0.1857:0.3177:0.3786	.|.	895;958|.	Q4ZHG4-2;Q4ZHG4|.	.;FNDC1_HUMAN|.	T|H	958;895|853	ENSP00000297267:A958T;ENSP00000342460:A895T|.	ENSP00000297267:A958T|.	A|R	+|+	1|2	0|0	FNDC1|FNDC1	159574406|159574406	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.233000|0.233000	0.25261|0.25261	0.040000|0.040000	0.13905|0.13905	0.042000|0.042000	0.15717|0.15717	0.561000|0.561000	0.74099|0.74099	GCG|CGC		0.622	FNDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042897.3	NM_032532		4	27	0	0	0	1	0	4	27					A	159654416	G	A	159654416	3	1	404	1	0	0	0	0	1	0	0	0	5968	1087	38	1	2914	1	FNDC1	6	159654416	Missense_Mutation	SNP	G	TCGA-VN-A88O-01A-11D-A34U-08	83631804	159654416	11460651	23	19648											
SEPT7	989	broad.mit.edu	37	chr7	35913345	35913345	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gtcagatgcctgataacaggGtgcagtgttgtttatacttc	9	14	11	7	0	1	2	1	1	0	1	2	2	1	2	1	1	4	3	1	1	3	6			TCGA-VN-A88O-01A-11D-A34U-08	TCGA-VN-A88O-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18fadec2-995f-42b3-9f32-ac72d2670608	4756e8c9-7e46-469b-9b86-7683252186f5	g.chr7:35913345G>T	ENST00000435235.1	+	5	745	c.313G>T	c.(313-315)Gtg>Ttg	p.V105L	SEPT7_ENST00000475109.1_3'UTR|SEPT7_ENST00000399035.3_Missense_Mutation_p.V157L|SEPT7_ENST00000350320.6_Missense_Mutation_p.V157L|SEPT7_ENST00000494488.2_Missense_Mutation_p.V144L|SEPT7_ENST00000469679.2_Missense_Mutation_p.V157L|SEPT7_ENST00000399034.2_Missense_Mutation_p.V159L			Q16181	SEPT7_HUMAN	septin 7	158	Septin-type G.				cilium morphogenesis (GO:0060271)|cytokinesis (GO:0000910)|mitotic nuclear division (GO:0007067)|protein heterooligomerization (GO:0051291)|regulation of embryonic cell shape (GO:0016476)	actin cytoskeleton (GO:0015629)|axoneme (GO:0005930)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|kinetochore (GO:0000776)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|septin complex (GO:0031105)|stress fiber (GO:0001725)	GTP binding (GO:0005525)|identical protein binding (GO:0042802)|structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)	14						TGATAACAGGGTGCAGTGTTG	0.408																																						ENST00000494488.2																			0				central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)	14						c.(430-432)Gtg>Ttg		septin 7							103	93	96					7																	35913345		1913	4124	6037	SO:0001583	missense	989				cilium morphogenesis|cytokinesis|mitosis|protein heterooligomerization|regulation of embryonic cell shape	cilium axoneme|cleavage furrow|condensed chromosome kinetochore|midbody|nucleus|septin complex|spindle|stress fiber	GTP binding|protein binding|structural molecule activity	g.chr7:35913345G>T	S72008	CCDS75582.1	7p14.2	2013-01-21	2005-01-11	2005-01-12	ENSG00000122545	ENSG00000122545		"Septins"	1717	protein-coding gene	gene with protein product		603151	"CDC10 cell division cycle 10 homolog (S. cerevisiae)"	CDC10		8037772	Standard	NM_001788		Approved	CDC3, SEPT7A	uc011kau.2	Q16181	OTTHUMG00000155063	ENST00000435235.1:c.313G>T	7.37:g.35913345G>T	ENSP00000413507:p.Val105Leu					SEPT7_ENST00000350320.6_Missense_Mutation_p.V157L|SEPT7_ENST00000435235.1_Missense_Mutation_p.V105L|SEPT7_ENST00000469679.2_Missense_Mutation_p.V157L|SEPT7_ENST00000399035.3_Missense_Mutation_p.V157L|SEPT7_ENST00000399034.2_Missense_Mutation_p.V159L|SEPT7_ENST00000475109.1_3'UTR	p.V144L			Q16181	SEPT7_HUMAN			5	430	+			158					Q52M76|Q6NX50	Missense_Mutation	SNP	ENST00000435235.1	37	c.430G>T		.	.	.	.	.	.	.	.	.	.	G	22.7	4.326667	0.81690	.	.	ENSG00000122545	ENST00000435235;ENST00000399034;ENST00000350320;ENST00000469679;ENST00000399035;ENST00000537785;ENST00000493670;ENST00000494488	T;T;T;T;T;T	0.60797	0.16;0.16;0.16;0.16;0.16;0.16	5.09	5.09	0.68999	.	0.161696	0.40222	U	0.001142	T	0.71576	0.3356	M	0.89214	3.015	0.80722	D	1	B;B;B	0.30179	0.271;0.214;0.214	B;B;B	0.38712	0.247;0.174;0.28	T	0.75969	-0.3130	10	0.87932	D	0	.	18.918	0.92513	0.0:0.0:1.0:0.0	.	103;157;158	B4DNE4;E7EPK1;Q16181	.;.;SEPT7_HUMAN	L	105;159;157;157;157;103;105;144	ENSP00000413507:V105L;ENSP00000381992:V159L;ENSP00000344868:V157L;ENSP00000444501:V157L;ENSP00000381993:V157L;ENSP00000438395:V144L	ENSP00000344868:V157L	V	+	1	0	SEPT7	35879870	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.596000	0.82721	2.557000	0.86248	0.644000	0.83932	GTG		0.408	SEPT7-001	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000338285.1	NM_001788		5	158	1	0	0.000602214	1	0.000688245	5	158					T	35913345	G	T	35913345	3	4	404	1	0	0	0	0	1	0	0	0	14069	1261	44	5	488	5	SEPT7	7	35913345	Missense_Mutation	SNP	G	TCGA-VN-A88O-01A-11D-A34U-08		35913345	123225318	24	19649											
POM121	9883	broad.mit.edu	37	chr7	72398976	72398976	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atttgagcccctggtggccaAtggagtccccgcttcttttg	5	13	11	12	1	1	1	0	1	1	0	2	2	2	2	5	3	1	1	5	3	1	4	rs147859349		TCGA-VN-A88O-01A-11D-A34U-08	TCGA-VN-A88O-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18fadec2-995f-42b3-9f32-ac72d2670608	4756e8c9-7e46-469b-9b86-7683252186f5	g.chr7:72398976A>G	ENST00000434423.2	+	4	1076	c.1076A>G	c.(1075-1077)aAt>aGt	p.N359S	POM121_ENST00000446813.1_Missense_Mutation_p.N94S|POM121_ENST00000257622.4_Missense_Mutation_p.N94S|POM121_ENST00000358357.3_Missense_Mutation_p.N94S|POM121_ENST00000395270.1_Missense_Mutation_p.N94S			Q96HA1	P121A_HUMAN	POM121 transmembrane nucleoporin	359	Pore side. {ECO:0000255}.				carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	endoplasmic reticulum (GO:0005783)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)				NS(1)|breast(1)|endometrium(9)|kidney(4)|large_intestine(6)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Lung NSC(55;0.163)				CTGGTGGCCAATGGAGTCCCC	0.468													.|||	1	0.000199681	8e-04	0	5008	,	,		16715	0		0	False		,,,				2504	0					ENST00000395270.1																			0				NS(1)|breast(1)|endometrium(9)|kidney(4)|large_intestine(6)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						c.(280-282)aAt>aGt		POM121 transmembrane nucleoporin							189	188	188					7																	72398976		2203	4300	6503	SO:0001583	missense	9883				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore		g.chr7:72398976A>G	AB014518	CCDS5542.1, CCDS59059.1	7q11.23	2013-01-08	2012-03-13		ENSG00000196313	ENSG00000196313		"-"	19702	protein-coding gene	gene with protein product		615753	"POM121 membrane glycoprotein (rat)", "POM121 membrane glycoprotein"			8335683, 9734811, 17900573	Standard	NM_172020		Approved	KIAA0618, DKFZP586G1822, DKFZP586P2220, POM121A	uc003twk.2	Q96HA1	OTTHUMG00000023527	ENST00000434423.2:c.1076A>G	7.37:g.72398976A>G	ENSP00000405562:p.Asn359Ser					POM121_ENST00000358357.3_Missense_Mutation_p.N94S|POM121_ENST00000257622.4_Missense_Mutation_p.N94S|POM121_ENST00000434423.2_Missense_Mutation_p.N359S|POM121_ENST00000446813.1_Missense_Mutation_p.N94S	p.N94S	NM_001257190.1	NP_001244119.1	Q96HA1	P121A_HUMAN			7	1322	+		Lung NSC(55;0.163)	359			Pore side (Potential).|Required for targeting to the nucleus and nuclear pore complex.		A6NFS9|A8CDT4|A8K933|A8MXF9|O75115|Q96DI0|Q9H9X1|Q9Y2N3|Q9Y4S7	Missense_Mutation	SNP	ENST00000434423.2	37	c.281A>G		.	.	.	.	.	.	.	.	.	.	G	12.65	2.002131	0.35320	.	.	ENSG00000196313	ENST00000446813;ENST00000257622;ENST00000395270;ENST00000358357;ENST00000434423	T;T;T;T;T	0.14266	2.52;2.52;2.52;2.52;2.52	3.99	3.99	0.46301	.	0.154071	0.30020	N	0.010614	T	0.13457	0.0326	L	0.57536	1.79	0.32153	N	0.584002	B;B	0.31193	0.312;0.006	B;B	0.26202	0.067;0.053	T	0.08066	-1.0740	10	0.30078	T	0.28	.	10.8045	0.46509	1.0:0.0:0.0:0.0	.	94;359	A8MXF9;Q96HA1	.;P121A_HUMAN	S	94;94;94;94;359	ENSP00000393020:N94S;ENSP00000257622:N94S;ENSP00000378687:N94S;ENSP00000351124:N94S;ENSP00000405562:N359S	ENSP00000257622:N94S	N	+	2	0	POM121	72036912	1.000000	0.71417	1.000000	0.80357	0.786000	0.44442	5.143000	0.64826	1.663000	0.50791	0.373000	0.22412	AAT		0.468	POM121-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000347344.1			7	208	0	0	0	1	0	7	208					G	72398976	A	G	72398976	3	3	404	1	0	0	0	0	1	0	0	0	12239	101	4	4	291	4	POM121	7	72398976	Missense_Mutation	SNP	A	TCGA-VN-A88O-01A-11D-A34U-08	36485631	72398976	86739687	25	19650											
UBR5	51366	broad.mit.edu	37	chr8	103291134	103291134	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agaataaagaccctgacttgGacggccaaaaagatcctcct	15	7	8	11	1	0	4	0	1	0	3	2	5	2	5	4	2	0	0	4	2	5	2			TCGA-VN-A88O-01A-11D-A34U-08	TCGA-VN-A88O-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18fadec2-995f-42b3-9f32-ac72d2670608	4756e8c9-7e46-469b-9b86-7683252186f5	g.chr8:103291134G>T	ENST00000520539.1	-	44	6814	c.6208C>A	c.(6208-6210)Cca>Aca	p.P2070T	UBR5_ENST00000220959.4_Missense_Mutation_p.P2070T|UBR5_ENST00000521922.1_Missense_Mutation_p.P2064T	NM_001282873.1|NM_015902.5	NP_001269802.1|NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5	2070					cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|negative regulation of double-strand break repair (GO:2000780)|negative regulation of histone H2A K63-linked ubiquitination (GO:1901315)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of protein import into nucleus, translocation (GO:0033160)|progesterone receptor signaling pathway (GO:0050847)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|RNA binding (GO:0003723)|ubiquitin-protein transferase activity (GO:0004842)|ubiquitin-ubiquitin ligase activity (GO:0034450)|zinc ion binding (GO:0008270)			NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			CCCTGACTTGGACGGCCAAAA	0.353																																					Ovarian(131;96 1741 5634 7352 27489)	ENST00000520539.1																			0				NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124						c.(6208-6210)Cca>Aca		ubiquitin protein ligase E3 component n-recognin 5							121	137	131					8																	103291134		2203	4300	6503	SO:0001583	missense	51366				cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding	g.chr8:103291134G>T	AF006010	CCDS34933.1, CCDS64946.1	8q22	2008-06-23	2007-06-19	2007-06-19	ENSG00000104517	ENSG00000104517		"Ubiquitin protein ligase E3 component n-recognins"	16806	protein-coding gene	gene with protein product		608413	"E3 ubiquitin protein ligase, HECT domain containing, 1"	EDD1		10030672, 16055722	Standard	NM_015902		Approved	DD5, HYD, EDD, KIAA0896	uc003ykr.2	O95071	OTTHUMG00000164755	ENST00000520539.1:c.6208C>A	8.37:g.103291134G>T	ENSP00000429084:p.Pro2070Thr					UBR5_ENST00000220959.4_Missense_Mutation_p.P2070T|UBR5_ENST00000521922.1_Missense_Mutation_p.P2064T	p.P2070T	NM_015902.5	NP_056986.2	O95071	UBR5_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.000442)		44	6814	-	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		2070					B2RP24|J3KMW7|O94970|Q9NPL3	Missense_Mutation	SNP	ENST00000520539.1	37	c.6208C>A	CCDS34933.1	.	.	.	.	.	.	.	.	.	.	G	28.1	4.888785	0.91814	.	.	ENSG00000104517	ENST00000520539;ENST00000220959;ENST00000521922	T;T;T	0.53857	0.6;0.6;0.6	5.74	5.74	0.90152	.	0.000000	0.85682	D	0.000000	T	0.70544	0.3236	L	0.55213	1.73	0.80722	D	1	D;D	0.71674	0.998;0.998	D;D	0.76071	0.987;0.987	T	0.69760	-0.5058	10	0.62326	D	0.03	.	20.2825	0.98528	0.0:0.0:1.0:0.0	.	2064;2070	E7EMW7;O95071	.;UBR5_HUMAN	T	2070;2070;2064	ENSP00000429084:P2070T;ENSP00000220959:P2070T;ENSP00000427819:P2064T	ENSP00000220959:P2070T	P	-	1	0	UBR5	103360310	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	9.420000	0.97426	2.873000	0.98535	0.561000	0.74099	CCA		0.353	UBR5-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000380075.2	NM_015902		5	146	1	0	0.217242	1	0.217242	5	146					T	103291134	G	T	103291134	3	4	404	1	0	0	0	0	1	0	0	0	16902	1174	41	5	2255	5	UBR5	8	103291134	Missense_Mutation	SNP	G	TCGA-VN-A88O-01A-11D-A34U-08		103291134	43072888	26	19651											
MRPL13	28998	broad.mit.edu	37	chr8	121426335	121426335	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cctctactaaattcttaagaAtatcttctggaatatactac	14	15	3	9	0	4	1	0	0	4	1	4	2	4	2	1	1	3	0	1	1	10	9	rs375407917		TCGA-VN-A88O-01A-11D-A34U-08	TCGA-VN-A88O-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18fadec2-995f-42b3-9f32-ac72d2670608	4756e8c9-7e46-469b-9b86-7683252186f5	g.chr8:121426335A>C	ENST00000306185.3	-	6	701	c.410T>G	c.(409-411)aTt>aGt	p.I137S		NM_014078.5	NP_054797.2	Q9BYD1	RM13_HUMAN	mitochondrial ribosomal protein L13	137					translation (GO:0006412)	mitochondrial large ribosomal subunit (GO:0005762)|mitochondrial ribosome (GO:0005761)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(1)|ovary(1)	6	Lung NSC(37;1.69e-07)|Ovarian(258;0.00769)|all_neural(195;0.0804)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00503)			ATTCTTAAGAATATCTTCTGG	0.289																																						ENST00000306185.3																			0				central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(1)|ovary(1)	6						c.(409-411)aTt>aGt		mitochondrial ribosomal protein L13							81	77	79					8																	121426335		2203	4300	6503	SO:0001583	missense	28998				translation	mitochondrial large ribosomal subunit	protein binding|structural constituent of ribosome	g.chr8:121426335A>C	AB049640	CCDS6332.1	8q22.1-q22.3	2012-09-13			ENSG00000172172	ENSG00000172172		"Mitochondrial ribosomal proteins / large subunits"	14278	protein-coding gene	gene with protein product		610200				11543634	Standard	NM_014078		Approved	L13, RPL13, L13mt, RPML13, L13A	uc003ypa.3	Q9BYD1	OTTHUMG00000165039	ENST00000306185.3:c.410T>G	8.37:g.121426335A>C	ENSP00000306548:p.Ile137Ser						p.I137S	NM_014078.5	NP_054797.2	Q9BYD1	RM13_HUMAN	STAD - Stomach adenocarcinoma(47;0.00503)		6	701	-	Lung NSC(37;1.69e-07)|Ovarian(258;0.00769)|all_neural(195;0.0804)|Hepatocellular(40;0.161)		137					B2R4R8|Q9UI04	Missense_Mutation	SNP	ENST00000306185.3	37	c.410T>G	CCDS6332.1	.	.	.	.	.	.	.	.	.	.	A	17.00	3.277916	0.59758	.	.	ENSG00000172172	ENST00000306185;ENST00000518918	.	.	.	5.74	5.74	0.90152	Ribosomal protein L13 domain (2);	0.147492	0.64402	D	0.000010	T	0.67011	0.2848	L	0.44542	1.39	0.80722	D	1	P	0.45396	0.857	P	0.60068	0.868	T	0.68413	-0.5415	9	0.62326	D	0.03	0.0055	13.8503	0.63492	1.0:0.0:0.0:0.0	.	137	Q9BYD1	RM13_HUMAN	S	137;113	.	ENSP00000306548:I137S	I	-	2	0	MRPL13	121495516	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	8.058000	0.89460	2.317000	0.78254	0.459000	0.35465	ATT		0.289	MRPL13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381523.1	NM_014078		8	23	0	0	0	1	0	8	23					C	121426335	A	C	121426335	3	2	404	1	0	0	0	0	1	0	0	0	9778	101	4	5	134	5	MRPL13	8	121426335	Missense_Mutation	SNP	A	TCGA-VN-A88O-01A-11D-A34U-08	18135201	121426335	24937687	27	19652											
NIPSNAP3B	55335	broad.mit.edu	37	chr9	107528754	107528754	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gacctcttactctgaattggTtggattctggagtgtagaat	9	15	11	6	0	3	2	0	1	3	1	3	5	3	4	1	3	1	2	1	3	4	5			TCGA-VN-A88O-01A-11D-A34U-08	TCGA-VN-A88O-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18fadec2-995f-42b3-9f32-ac72d2670608	4756e8c9-7e46-469b-9b86-7683252186f5	g.chr9:107528754T>C	ENST00000374762.3	+	2	280	c.209T>C	c.(208-210)gTt>gCt	p.V70A	NIPSNAP3B_ENST00000461177.1_Intron	NM_018376.2	NP_060846.2	Q9BS92	NPS3B_HUMAN	nipsnap homolog 3B (C. elegans)	70										breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	11						TCTGAATTGGTTGGATTCTGG	0.328																																						ENST00000374762.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	11						c.(208-210)gTt>gCt		nipsnap homolog 3B (C. elegans)							160	165	163					9																	107528754		2203	4300	6503	SO:0001583	missense	55335							g.chr9:107528754T>C	BC017914	CCDS6761.1	9q31.3	2003-11-27			ENSG00000165028	ENSG00000165028			23641	protein-coding gene	gene with protein product		608872				12477932	Standard	NM_018376		Approved	FLJ11275	uc004bci.3	Q9BS92	OTTHUMG00000020414	ENST00000374762.3:c.209T>C	9.37:g.107528754T>C	ENSP00000363894:p.Val70Ala					NIPSNAP3B_ENST00000461177.1_Intron	p.V70A	NM_018376.2	NP_060846.2	Q9BS92	NPS3B_HUMAN			2	280	+			70					Q5VX30|Q9NUM2	Missense_Mutation	SNP	ENST00000374762.3	37	c.209T>C	CCDS6761.1	.	.	.	.	.	.	.	.	.	.	T	19.78	3.890332	0.72524	.	.	ENSG00000165028	ENST00000374762	T	0.57595	0.39	3.93	2.79	0.32731	Dimeric alpha-beta barrel (1);	0.125962	0.53938	D	0.000056	T	0.59307	0.2184	M	0.74389	2.26	0.35897	D	0.830078	P	0.49783	0.928	P	0.51657	0.676	T	0.67264	-0.5714	10	0.54805	T	0.06	0.8093	8.1805	0.31307	0.0:0.1:0.0:0.9	.	70	Q9BS92	NPS3B_HUMAN	A	70	ENSP00000363894:V70A	ENSP00000363894:V70A	V	+	2	0	NIPSNAP3B	106568575	1.000000	0.71417	0.931000	0.37212	0.972000	0.66771	4.157000	0.58144	0.670000	0.31165	0.528000	0.53228	GTT		0.328	NIPSNAP3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053486.1	NM_018376		10	111	0	0	0	1	0	10	111					C	107528754	T	C	107528754	3	2	404	1	0	0	0	0	1	0	0	0	10431	1725	60	4	215	4	NIPSNAP3B	9	107528754	Missense_Mutation	SNP	T	TCGA-VN-A88O-01A-11D-A34U-08		107528754	33684677	28	19653											
PAPPA	5069	broad.mit.edu	37	chr9	119106933	119106933	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggtgcccagtgtactgtgagCtgccggacaggctacgtgct	6	9	15	11	2	0	1	0	1	0	0	0	2	0	2	2	3	6	4	2	3	2	2			TCGA-VN-A88O-01A-11D-A34U-08	TCGA-VN-A88O-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18fadec2-995f-42b3-9f32-ac72d2670608	4756e8c9-7e46-469b-9b86-7683252186f5	g.chr9:119106933C>T	ENST00000328252.3	+	14	4092	c.3723C>T	c.(3721-3723)agC>agT	p.S1241S	PAPPA_ENST00000534838.1_Silent_p.S279S	NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A, pappalysin 1	1241	Sushi 1. {ECO:0000255|PROSITE- ProRule:PRU00302}.				cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|female pregnancy (GO:0007565)|response to follicle-stimulating hormone (GO:0032354)|response to glucocorticoid (GO:0051384)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)	endopeptidase activity (GO:0004175)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						GTACTGTGAGCTGCCGGACAG	0.582																																						ENST00000328252.3																			0				NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						c.(3721-3723)agC>agT		pregnancy-associated plasma protein A, pappalysin 1							94	79	84					9																	119106933		2203	4300	6503	SO:0001819	synonymous_variant	5069				cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding	g.chr9:119106933C>T		CCDS6813.1	9q33.1	2014-03-05			ENSG00000182752	ENSG00000182752			8602	protein-coding gene	gene with protein product	"insulin-like growth factor-dependent IGF binding protein-4 protease", "aspecific BCL2 ARE-binding protein 2", "differentially placenta 1 expressed protein"	176385				7679961	Standard	NM_002581		Approved	PAPP-A, PAPPA1, IGFBP-4ase, PAPA, ASBABP2, DIPLA1	uc004bjn.3	Q13219	OTTHUMG00000021045	ENST00000328252.3:c.3723C>T	9.37:g.119106933C>T						PAPPA_ENST00000534838.1_Silent_p.S279S	p.S1241S	NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN			14	4092	+			1241			Sushi 1.		B1AMF9|Q08371|Q68G52|Q9UDK7	Silent	SNP	ENST00000328252.3	37	c.3723C>T	CCDS6813.1																																																																																				0.582	PAPPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055546.1	NM_002581		4	83	0	0	0	1	0	4	83					T	119106933	C	T	119106933	2	4	404	1	0	0	0	0	0	0	0	1	11432	796	28	3		3	PAPPA	9	119106933	Silent	SNP	C	TCGA-VN-A88O-01A-11D-A34U-08	11578179	119106933	22106498	29	19654											
C10orf10	11067	broad.mit.edu	37	chr10	45473237	45473237	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gtgcggtgatgtctcgcaggGacacagcagggcggcccttc	6	7	16	12	3	1	1	0	1	1	0	3	2	1	2	1	4	2	2	1	4	0	1			TCGA-VN-A88O-01A-11D-A34U-08	TCGA-VN-A88O-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18fadec2-995f-42b3-9f32-ac72d2670608	4756e8c9-7e46-469b-9b86-7683252186f5	g.chr10:45473237G>T	ENST00000298295.3	-	2	459	c.242C>A	c.(241-243)tCc>tAc	p.S81Y	RASSF4_ENST00000374417.2_Intron|RASSF4_ENST00000334940.6_Intron|RASSF4_ENST00000340258.5_Intron|RASSF4_ENST00000472561.1_Intron|C10orf10_ENST00000496638.1_Intron	NM_007021.3	NP_008952.1	Q9NTK1	DEPP_HUMAN	chromosome 10 open reading frame 10	81						mitochondrion (GO:0005739)				lung(1)	1						GTCTCGCAGGGACACAGCAGG	0.672																																						ENST00000298295.3																			0				lung(1)	1						c.(241-243)tCc>tAc		chromosome 10 open reading frame 10							40	42	41					10																	45473237		2203	4299	6502	SO:0001583	missense	11067					mitochondrion		g.chr10:45473237G>T	AB022718	CCDS7210.1	10q11.21	2014-07-31			ENSG00000165507	ENSG00000165507			23355	protein-coding gene	gene with protein product	"decidual protein induced by progesterone", "fasting induced", "fat-specific expressed gene"	611309				24530860, 19937567, 16123073	Standard	NM_007021		Approved	DEPP, FIG, Fseg	uc001jbr.4	Q9NTK1	OTTHUMG00000018063	ENST00000298295.3:c.242C>A	10.37:g.45473237G>T	ENSP00000298295:p.Ser81Tyr					C10orf10_ENST00000496638.1_Intron|RASSF4_ENST00000334940.6_Intron|RASSF4_ENST00000374417.2_Intron|RASSF4_ENST00000472561.1_Intron|RASSF4_ENST00000340258.4_Intron	p.S81Y	NM_007021.3	NP_008952.1	Q9NTK1	DEPP_HUMAN			2	459	-			81					B2R6A1|O94997|Q5T735|Q76MX8	Missense_Mutation	SNP	ENST00000298295.3	37	c.242C>A	CCDS7210.1	.	.	.	.	.	.	.	.	.	.	G	13.72	2.321161	0.41096	.	.	ENSG00000165507	ENST00000298295;ENST00000432283;ENST00000448778	T;T	0.52295	0.67;0.67	4.92	4.92	0.64577	.	0.149124	0.31601	N	0.007370	T	0.54431	0.1858	L	0.34521	1.04	0.09310	N	0.999991	D	0.69078	0.997	D	0.63192	0.912	T	0.49762	-0.8905	10	0.87932	D	0	-14.7161	13.4743	0.61299	0.0:0.0:1.0:0.0	.	81	Q9NTK1	DEPP_HUMAN	Y	81	ENSP00000298295:S81Y;ENSP00000414494:S81Y	ENSP00000298295:S81Y	S	-	2	0	C10orf10	44793243	0.918000	0.31147	0.137000	0.22149	0.031000	0.12232	2.329000	0.43876	2.576000	0.86940	0.561000	0.74099	TCC		0.672	C10orf10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047758.1	NM_007021		10	66	1	0	1.33987e-11	1	1.68141e-11	10	66					T	45473237	G	T	45473237	3	4	404	1	0	0	0	0	1	0	0	0	1580	1174	41	5	400	5	C10orf10	10	45473237	Missense_Mutation	SNP	G	TCGA-VN-A88O-01A-11D-A34U-08		45473237	90061510	30	19655											
NRG3	10718	broad.mit.edu	37	chr10	84118519	84118519	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gacgacatattccacagagcGatccgagcacttcaaaccct	13	7	7	14	3	1	1	1	0	0	1	3	5	3	1	3	0	3	1	3	0	2	3			TCGA-VN-A88O-01A-11D-A34U-08	TCGA-VN-A88O-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18fadec2-995f-42b3-9f32-ac72d2670608	4756e8c9-7e46-469b-9b86-7683252186f5	g.chr10:84118519G>A	ENST00000404547.1	+	2	848	c.848G>A	c.(847-849)cGa>cAa	p.R283Q	NRG3_ENST00000404576.2_Missense_Mutation_p.R87Q|NRG3_ENST00000372142.2_Missense_Mutation_p.R62Q|NRG3_ENST00000556918.1_Missense_Mutation_p.R113Q|NRG3_ENST00000372141.2_Missense_Mutation_p.R283Q			P56975	NRG3_HUMAN	neuregulin 3	283	Ser/Thr-rich.				activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|intracellular signal transduction (GO:0035556)|mammary placode formation (GO:0060596)|pattern specification process (GO:0007389)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	growth factor activity (GO:0008083)|receptor tyrosine kinase binding (GO:0030971)|transmembrane receptor protein tyrosine kinase activator activity (GO:0030297)			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(41)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	69				GBM - Glioblastoma multiforme(1;2.5e-18)|all cancers(1;2.85e-09)		TCCACAGAGCGATCCGAGCAC	0.517																																						ENST00000372142.2																			0				breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(41)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						c.(184-186)cGa>cAa		neuregulin 3							185	141	156					10																	84118519		2203	4300	6503	SO:0001583	missense	10718				regulation of cell growth	extracellular region|integral to plasma membrane	growth factor activity|receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity	g.chr10:84118519G>A	AK098823	CCDS31233.1, CCDS53547.1	10q22-q23	2003-09-09			ENSG00000185737	ENSG00000185737			7999	protein-coding gene	gene with protein product		605533				9275162	Standard	NM_001010848		Approved		uc001kco.2	P56975	OTTHUMG00000018626	ENST00000404547.1:c.848G>A	10.37:g.84118519G>A	ENSP00000384796:p.Arg283Gln					NRG3_ENST00000404576.2_Missense_Mutation_p.R87Q|NRG3_ENST00000372141.2_Missense_Mutation_p.R283Q|NRG3_ENST00000556918.1_Missense_Mutation_p.R113Q|NRG3_ENST00000404547.1_Missense_Mutation_p.R283Q	p.R62Q	NM_001165973.1	NP_001159445.1	P56975	NRG3_HUMAN		GBM - Glioblastoma multiforme(1;2.5e-18)|all cancers(1;2.85e-09)	3	459	+			283					A4D7U1|Q0PEH2|Q5VYH3	Missense_Mutation	SNP	ENST00000404547.1	37	c.185G>A	CCDS31233.1	.	.	.	.	.	.	.	.	.	.	G	12.23	1.876658	0.33162	.	.	ENSG00000185737	ENST00000372141;ENST00000404547;ENST00000537287;ENST00000372142;ENST00000404576;ENST00000556918	T;T;T;T;T	0.36340	1.26;1.26;1.26;1.26;1.26	5.72	5.72	0.89469	.	0.000000	0.47852	D	0.000210	T	0.55321	0.1913	M	0.64170	1.965	0.80722	D	1	B;D;D	0.71674	0.169;0.998;0.998	B;D;P	0.66979	0.018;0.948;0.901	T	0.42649	-0.9439	10	0.21014	T	0.42	-5.3308	17.3885	0.87423	0.0:0.0:1.0:0.0	.	283;62;283	B9EGV5;P56975-3;P56975-4	.;.;.	Q	283;283;283;62;87;113	ENSP00000361214:R283Q;ENSP00000384796:R283Q;ENSP00000361215:R62Q;ENSP00000385804:R87Q;ENSP00000451376:R113Q	ENSP00000361214:R283Q	R	+	2	0	NRG3	84108499	1.000000	0.71417	0.280000	0.24747	0.415000	0.31203	2.906000	0.48735	2.711000	0.92665	0.655000	0.94253	CGA		0.517	NRG3-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000412262.1	XM_166086		9	61	0	0	0	1	0	9	61					A	84118519	G	A	84118519	3	1	404	1	0	0	0	0	1	0	0	0	10649	1058	37	2	1022	2	NRG3	10	84118519	Missense_Mutation	SNP	G	TCGA-VN-A88O-01A-11D-A34U-08	38645282	84118519	51416228	31	19656											
OR52E2	119678	broad.mit.edu	37	chr11	5080816	5080816	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	cctgggatccccagcaacagGaaggaggaggggtgaaactg	12	4	16	9	0	0	1	0	1	0	0	1	5	1	5	3	6	3	1	3	6	3	0			TCGA-VN-A88O-01A-11D-A34U-08	TCGA-VN-A88O-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18fadec2-995f-42b3-9f32-ac72d2670608	4756e8c9-7e46-469b-9b86-7683252186f5	g.chr11:5080816G>A	ENST00000321522.2	-	1	41	c.42C>T	c.(40-42)ttC>ttT	p.F14F		NM_001005164.2	NP_001005164.2	Q8NGJ4	O52E2_HUMAN	olfactory receptor, family 52, subfamily E, member 2	14						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|lung(13)|ovary(2)|skin(3)	20		Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086)		Epithelial(150;1.03e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.191)		CCAGCAACAGGAAGGAGGAGG	0.483																																						ENST00000321522.2																			0				endometrium(2)|lung(13)|ovary(2)|skin(3)	20						c.(40-42)ttC>ttT		olfactory receptor, family 52, subfamily E, member 2							89	83	85					11																	5080816		2201	4298	6499	SO:0001819	synonymous_variant	119678				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5080816G>A	AB065800	CCDS31371.1	11p15.4	2012-08-09			ENSG00000176787	ENSG00000176787		"GPCR / Class A : Olfactory receptors"	14769	protein-coding gene	gene with protein product							Standard	NM_001005164		Approved		uc010qyw.2	Q8NGJ4	OTTHUMG00000066608	ENST00000321522.2:c.42C>T	11.37:g.5080816G>A							p.F14F	NM_001005164.2	NP_001005164.2	Q8NGJ4	O52E2_HUMAN		Epithelial(150;1.03e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.191)	1	41	-		Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086)	14						Silent	SNP	ENST00000321522.2	37	c.42C>T	CCDS31371.1																																																																																				0.483	OR52E2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142815.1	NM_001005164		4	44	0	0	0	1	0	4	44					A	5080816	G	A	5080816	2	1	404	1	0	0	0	0	0	0	0	1	11115	1165	41	3		3	OR52E2	11	5080816	Silent	SNP	G	TCGA-VN-A88O-01A-11D-A34U-08		5080816	129925700	32	19657											
ESRRA	2101	broad.mit.edu	37	chr11	64081763	64081763	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagaagtacaagcggcggccGgaggtggacccactgccctt	9	5	14	13	3	0	1	0	0	0	1	0	3	0	3	3	5	3	1	3	5	3	2	rs368950323		TCGA-VN-A88O-01A-11D-A34U-08	TCGA-VN-A88O-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18fadec2-995f-42b3-9f32-ac72d2670608	4756e8c9-7e46-469b-9b86-7683252186f5	g.chr11:64081763G>A	ENST00000405666.1	+	4	729	c.495G>A	c.(493-495)ccG>ccA	p.P165P	ESRRA_ENST00000000442.6_Silent_p.P165P|ESRRA_ENST00000406310.1_Silent_p.P165P	NM_001282450.1	NP_001269379.1	P11474	ERR1_HUMAN	estrogen-related receptor alpha	165					cartilage development (GO:0051216)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell proliferation (GO:0042127)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoclast differentiation (GO:0045670)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	intercellular bridge (GO:0045171)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein domain specific binding (GO:0019904)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|large_intestine(4)|lung(8)	14						AGCGGCGGCCGGAGGTGGACC	0.682																																						ENST00000405666.1																			0				endometrium(1)|kidney(1)|large_intestine(4)|lung(8)	14						c.(493-495)ccG>ccA		estrogen-related receptor alpha		G		0,3882		0,0,1941	17	25	23		495	-0.1	1	11		23	1,8249		0,1,4124	no	coding-synonymous	ESRRA	NM_004451.3		0,1,6065	AA,AG,GG		0.0121,0.0,0.0082		165/424	64081763	1,12131	1941	4125	6066	SO:0001819	synonymous_variant	2101				positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	protein domain specific binding|sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding	g.chr11:64081763G>A	X51416, L38487	CCDS41667.1, CCDS60830.1	11q12	2013-01-16			ENSG00000173153	ENSG00000173153		"Nuclear hormone receptors"	3471	protein-coding gene	gene with protein product		601998		ESRL1		3267207	Standard	NM_004451		Approved	ERR1, ERRalpha, NR3B1, ERRa	uc001nzq.1	P11474	OTTHUMG00000150641	ENST00000405666.1:c.495G>A	11.37:g.64081763G>A						ESRRA_ENST00000406310.1_Silent_p.P165P|ESRRA_ENST00000000442.6_Silent_p.P165P	p.P165P			P11474	ERR1_HUMAN			4	729	+			165					Q14514	Silent	SNP	ENST00000405666.1	37	c.495G>A	CCDS41667.1	.	.	.	.	.	.	.	.	.	.	G	10.34	1.322594	0.23994	0.0	1.21E-4	ENSG00000173153	ENST00000545035	.	.	.	3.99	-0.0468	0.13846	.	.	.	.	.	T	0.42154	0.1190	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.26189	-1.0110	4	.	.	.	.	2.044	0.03557	0.5825:0.1617:0.0983:0.1574	.	.	.	.	Q	3	.	.	R	+	2	0	ESRRA	63838339	0.018000	0.18449	1.000000	0.80357	0.940000	0.58332	-0.461000	0.06712	0.210000	0.20664	-0.487000	0.04747	CGG		0.682	ESRRA-003	KNOWN	alternative_5_UTR|NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319304.1	NM_004451		3	10	0	0	0	1	0	3	10					A	64081763	G	A	64081763	2	1	404	1	0	0	0	0	0	0	0	1	5260	1103	39	2		2	ESRRA	11	64081763	Silent	SNP	G	TCGA-VN-A88O-01A-11D-A34U-08	59000947	64081763	70924753	33	19658											
TAF1D	79101	broad.mit.edu	37	chr11	93471313	93471313	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctccaaggtgcgtttttttCattctctgattctaaaaatg	9	18	6	8	1	4	1	1	1	3	0	6	1	4	1	1	1	1	1	1	1	4	6			TCGA-VN-A88O-01A-11D-A34U-08	TCGA-VN-A88O-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18fadec2-995f-42b3-9f32-ac72d2670608	4756e8c9-7e46-469b-9b86-7683252186f5	g.chr11:93471313C>A	ENST00000448108.2	-	3	1071	c.421G>T	c.(421-423)Gaa>Taa	p.E141*	SNORA40_ENST00000388090.1_RNA|TAF1D_ENST00000546088.1_5'Flank	NM_024116.3	NP_077021.1	Q9H5J8	TAF1D_HUMAN	TATA box binding protein (TBP)-associated factor, RNA polymerase I, D, 41kDa	141					gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)	microtubule organizing center (GO:0005815)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)			large_intestine(1)|lung(3)|prostate(1)|skin(2)	7						GCGTTTTTTTCATTCTCTGAT	0.358																																						ENST00000448108.2																			0				large_intestine(1)|lung(3)|prostate(1)|skin(2)	7						c.(421-423)Gaa>Taa		TATA box binding protein (TBP)-associated factor, RNA polymerase I, D, 41kDa							87	94	92					11																	93471313		2200	4298	6498	SO:0001587	stop_gained	79101				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	g.chr11:93471313C>A		CCDS8293.1	11q21	2012-05-30	2008-09-30	2008-09-30	ENSG00000166012	ENSG00000166012			28759	protein-coding gene	gene with protein product		612823	"Josephin domain containing 3"	JOSD3		15520167, 17318177	Standard	NM_024116		Approved	MGC5306, TAF(I)41	uc001pec.3	Q9H5J8	OTTHUMG00000167451	ENST00000448108.2:c.421G>T	11.37:g.93471313C>A	ENSP00000410409:p.Glu141*						p.E141*	NM_024116.3	NP_077021.1	Q9H5J8	TAF1D_HUMAN			3	1071	-			141					Q6I9Y6	Nonsense_Mutation	SNP	ENST00000448108.2	37	c.421G>T	CCDS8293.1	.	.	.	.	.	.	.	.	.	.	C	16.98	3.272393	0.59649	.	.	ENSG00000166012	ENST00000448108	.	.	.	5.45	4.48	0.54585	.	0.720818	0.13362	N	0.393542	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.20519	T	0.43	-4.1921	11.0092	0.47652	0.1855:0.8145:0.0:0.0	.	.	.	.	X	141	.	ENSP00000314971:E141X	E	-	1	0	TAF1D	93110961	0.359000	0.24955	0.938000	0.37757	0.069000	0.16628	1.451000	0.35145	2.716000	0.92895	0.655000	0.94253	GAA		0.358	TAF1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394662.2	NM_024116		20	97	1	0	3.62473e-10	1	4.46121e-10	20	97					A	93471313	C	A	93471313	4	1	404	1	0	0	0	0	0	1	0	0	15519	835	29	5	431	5	TAF1D	11	93471313	Nonsense_Mutation	SNP	C	TCGA-VN-A88O-01A-11D-A34U-08	29389550	93471313	41535203	34	19659											
CUL5	8065	broad.mit.edu	37	chr11	107968473	107968473	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttctcagtgaaccaggagttCagtttaatgtaagctcgtta	11	14	9	7	1	2	1	2	1	1	0	4	2	2	2	1	1	2	5	1	1	4	6			TCGA-VN-A88O-01A-11D-A34U-08	TCGA-VN-A88O-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18fadec2-995f-42b3-9f32-ac72d2670608	4756e8c9-7e46-469b-9b86-7683252186f5	g.chr11:107968473C>T	ENST00000393094.2	+	17	2632	c.2016C>T	c.(2014-2016)ttC>ttT	p.F672F		NM_003478.3	NP_003469.2	Q93034	CUL5_HUMAN	cullin 5	672					calcium ion transmembrane transport (GO:0070588)|cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|cytosolic calcium ion homeostasis (GO:0051480)|G1/S transition of mitotic cell cycle (GO:0000082)|intrinsic apoptotic signaling pathway (GO:0097193)|negative regulation of cell proliferation (GO:0008285)|protein ubiquitination (GO:0016567)|response to osmotic stress (GO:0006970)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	Cul5-RING ubiquitin ligase complex (GO:0031466)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|receptor activity (GO:0004872)|ubiquitin protein ligase binding (GO:0031625)			endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(1)|prostate(1)|skin(1)	23		all_cancers(61;7.09e-10)|all_epithelial(67;2.97e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|Melanoma(852;4.48e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		BRCA - Breast invasive adenocarcinoma(274;3.58e-05)|Epithelial(105;4.68e-05)|all cancers(92;0.00122)|OV - Ovarian serous cystadenocarcinoma(223;0.217)		ACCAGGAGTTCAGTTTAATGT	0.338																																						ENST00000393094.2																			0				endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(1)|prostate(1)|skin(1)	23						c.(2014-2016)ttC>ttT		cullin 5							92	88	89					11																	107968473		2201	4298	6499	SO:0001819	synonymous_variant	8065				cell cycle arrest|cell proliferation|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|ubiquitin-dependent protein catabolic process|viral reproduction	cullin-RING ubiquitin ligase complex|cytosol	calcium channel activity|receptor activity|ubiquitin protein ligase binding	g.chr11:107968473C>T	X81882	CCDS31668.1	11q22.3	2011-05-24			ENSG00000166266	ENSG00000166266			2556	protein-coding gene	gene with protein product		601741				8681378, 9037604	Standard	XM_005271682		Approved	VACM-1	uc001pjv.3	Q93034	OTTHUMG00000166369	ENST00000393094.2:c.2016C>T	11.37:g.107968473C>T							p.F672F	NM_003478.3	NP_003469.2	Q93034	CUL5_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.58e-05)|Epithelial(105;4.68e-05)|all cancers(92;0.00122)|OV - Ovarian serous cystadenocarcinoma(223;0.217)	17	2632	+		all_cancers(61;7.09e-10)|all_epithelial(67;2.97e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|Melanoma(852;4.48e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)	672					A8K960|O14766|Q9BZC6	Silent	SNP	ENST00000393094.2	37	c.2016C>T	CCDS31668.1																																																																																				0.338	CUL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389429.1			13	80	0	0	0	1	0	13	80					T	107968473	C	T	107968473	2	4	404	1	0	0	0	0	0	0	0	1	4059	825	29	3		3	CUL5	11	107968473	Silent	SNP	C	TCGA-VN-A88O-01A-11D-A34U-08	14497160	107968473	27038043	35	19660											
APOA4	337	broad.mit.edu	37	chr11	116692051	116692051	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttcttcttcatctggaaggtCaggccctcaagctggtggtt	6	14	11	10	0	6	0	3	0	3	0	6	1	6	1	1	5	1	2	1	5	2	4			TCGA-VN-A88O-01A-11D-A34U-08	TCGA-VN-A88O-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18fadec2-995f-42b3-9f32-ac72d2670608	4756e8c9-7e46-469b-9b86-7683252186f5	g.chr11:116692051C>T	ENST00000357780.3	-	3	837	c.723G>A	c.(721-723)ctG>ctA	p.L241L		NM_000482.3	NP_000473.2	P06727	APOA4_HUMAN	apolipoprotein A-IV	241	13 X 22 AA approximate tandem repeats.				cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|chylomicron assembly (GO:0034378)|chylomicron remodeling (GO:0034371)|high-density lipoprotein particle remodeling (GO:0034375)|hydrogen peroxide catabolic process (GO:0042744)|innate immune response in mucosa (GO:0002227)|leukocyte cell-cell adhesion (GO:0007159)|lipid homeostasis (GO:0055088)|lipid transport (GO:0006869)|lipoprotein metabolic process (GO:0042157)|multicellular organismal lipid catabolic process (GO:0044240)|negative regulation of plasma lipoprotein particle oxidation (GO:0034445)|phosphatidylcholine metabolic process (GO:0046470)|phospholipid efflux (GO:0033700)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol esterification (GO:0010873)|positive regulation of fatty acid biosynthetic process (GO:0045723)|positive regulation of lipoprotein lipase activity (GO:0051006)|positive regulation of triglyceride catabolic process (GO:0010898)|protein-lipid complex assembly (GO:0065005)|regulation of cholesterol transport (GO:0032374)|regulation of intestinal cholesterol absorption (GO:0030300)|removal of superoxide radicals (GO:0019430)|response to lipid hydroperoxide (GO:0006982)|response to stilbenoid (GO:0035634)|retinoid metabolic process (GO:0001523)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)|very-low-density lipoprotein particle remodeling (GO:0034372)	blood microparticle (GO:0072562)|chylomicron (GO:0042627)|cytosol (GO:0005829)|early endosome (GO:0005769)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|high-density lipoprotein particle (GO:0034364)|very-low-density lipoprotein particle (GO:0034361)	antioxidant activity (GO:0016209)|cholesterol transporter activity (GO:0017127)|copper ion binding (GO:0005507)|lipid binding (GO:0008289)|lipid transporter activity (GO:0005319)|phosphatidylcholine binding (GO:0031210)|phosphatidylcholine-sterol O-acyltransferase activator activity (GO:0060228)|protein homodimerization activity (GO:0042803)			cervix(1)|endometrium(2)|lung(10)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	20	all_hematologic(175;0.0487)	Breast(348;0.0126)|Medulloblastoma(222;0.0425)|all_hematologic(158;0.0564)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|Epithelial(105;1.62e-05)|all cancers(92;0.000165)|OV - Ovarian serous cystadenocarcinoma(223;0.148)		TCTGGAAGGTCAGGCCCTCAA	0.632																																						ENST00000357780.3																			0				cervix(1)|endometrium(2)|lung(10)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	20						c.(721-723)ctG>ctA		apolipoprotein A-IV							92	95	94					11																	116692051		2201	4292	6493	SO:0001819	synonymous_variant	337							g.chr11:116692051C>T		CCDS31681.1	11q23.3	2013-01-24			ENSG00000110244	ENSG00000110244		"Apolipoproteins"	602	protein-coding gene	gene with protein product		107690					Standard	NM_000482		Approved		uc001pps.1	P06727	OTTHUMG00000046110	ENST00000357780.3:c.723G>A	11.37:g.116692051C>T							p.L241L	NM_000482.3	NP_000473.2				BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|Epithelial(105;1.62e-05)|all cancers(92;0.000165)|OV - Ovarian serous cystadenocarcinoma(223;0.148)	3	837	-	all_hematologic(175;0.0487)	Breast(348;0.0126)|Medulloblastoma(222;0.0425)|all_hematologic(158;0.0564)|all_neural(223;0.234)						A8MSL6|Q14CW8|Q6Q787	Silent	SNP	ENST00000357780.3	37	c.723G>A	CCDS31681.1																																																																																				0.632	APOA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106279.2	NM_000482		21	133	0	0	0	1	0	21	133					T	116692051	C	T	116692051	2	4	404	1	0	0	0	0	0	0	0	1	783	813	29	3		3	APOA4	11	116692051	Silent	SNP	C	TCGA-VN-A88O-01A-11D-A34U-08	8723578	116692051	18314465	36	19661											
OR8B2	26595	broad.mit.edu	37	chr11	124253093	124253093	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tggaggtgagaatttagaccGaaaagagtgatcaagccaag	16	7	13	5	1	1	4	1	2	0	3	1	7	1	5	2	2	1	0	2	2	6	2			TCGA-VN-A88O-01A-11D-A34U-08	TCGA-VN-A88O-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18fadec2-995f-42b3-9f32-ac72d2670608	4756e8c9-7e46-469b-9b86-7683252186f5	g.chr11:124253093G>A	ENST00000375013.2	-	1	165	c.147C>T	c.(145-147)ttC>ttT	p.F49F		NM_001005468.1	NP_001005468.1	Q96RD0	OR8B2_HUMAN	olfactory receptor, family 8, subfamily B, member 2	49						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(13)|ovary(1)	23		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277)		AATTTAGACCGAAAAGAGTGA	0.423																																						ENST00000375013.2																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(13)|ovary(1)	23						c.(145-147)ttC>ttT		olfactory receptor, family 8, subfamily B, member 2							194	180	185					11																	124253093		2201	4299	6500	SO:0001819	synonymous_variant	26595				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:124253093G>A	AB065826	CCDS31708.1	11q24.1	2012-08-09			ENSG00000204293	ENSG00000204293		"GPCR / Class A : Olfactory receptors"	8471	protein-coding gene	gene with protein product							Standard	XM_005271500		Approved		uc010sai.2	Q96RD0	OTTHUMG00000165982	ENST00000375013.2:c.147C>T	11.37:g.124253093G>A							p.F49F	NM_001005468.1	NP_001005468.1	Q96RD0	OR8B2_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277)	1	165	-		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)	49					Q8NGH2	Silent	SNP	ENST00000375013.2	37	c.147C>T	CCDS31708.1																																																																																				0.423	OR8B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387290.1	NM_001005468		4	164	0	0	0	1	0	4	164					A	124253093	G	A	124253093	2	1	404	1	0	0	0	0	0	0	0	1	11227	1049	37	2		2	OR8B2	11	124253093	Silent	SNP	G	TCGA-VN-A88O-01A-11D-A34U-08	7561042	124253093	10753423	37	19662											
OR8B3	390271	broad.mit.edu	37	chr11	124267101	124267101	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tggaggtgagaatttagaccGaaaagaatgatcaagccaag	17	7	12	5	1	1	4	1	2	0	3	1	7	1	5	2	2	1	0	2	2	7	2	rs140121900	byFrequency	TCGA-VN-A88O-01A-11D-A34U-08	TCGA-VN-A88O-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18fadec2-995f-42b3-9f32-ac72d2670608	4756e8c9-7e46-469b-9b86-7683252186f5	g.chr11:124267101G>A	ENST00000354597.3	-	1	163	c.147C>T	c.(145-147)ttC>ttT	p.F49F		NM_001005467.1	NP_001005467.1	Q8NGG8	OR8B3_HUMAN	olfactory receptor, family 8, subfamily B, member 3	49						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			kidney(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	14		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277)		AATTTAGACCGAAAAGAATGA	0.418													g|||	2	0.000399361	8e-04	0	5008	,	,		15874	0		0.001	False		,,,				2504	0					ENST00000354597.3																			0				kidney(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	14						c.(145-147)ttC>ttT		olfactory receptor, family 8, subfamily B, member 3		G		3,4399		0,3,2198	141	146	144		147	-2.7	0	11	dbSNP_134	144	14,8584		0,14,4285	no	coding-synonymous	OR8B3	NM_001005467.1		0,17,6483	AA,AG,GG		0.1628,0.0682,0.1308		49/314	124267101	17,12983	2201	4299	6500	SO:0001819	synonymous_variant	390271				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:124267101G>A	AB065827	CCDS31709.1	11q24.1	2012-08-09			ENSG00000196661	ENSG00000196661		"GPCR / Class A : Olfactory receptors"	8472	protein-coding gene	gene with protein product							Standard	NM_001005467		Approved		uc010saj.2	Q8NGG8	OTTHUMG00000165983	ENST00000354597.3:c.147C>T	11.37:g.124267101G>A							p.F49F	NM_001005467.1	NP_001005467.1	Q8NGG8	OR8B3_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277)	1	163	-		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)	49					Q6IFQ8|Q8NGH1	Silent	SNP	ENST00000354597.3	37	c.147C>T	CCDS31709.1																																																																																				0.418	OR8B3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387291.1	NM_001005467		14	121	0	0	0	1	0	14	121					A	124267101	G	A	124267101	2	1	404	1	0	0	0	0	0	0	0	1	11228	1049	37	2		2	OR8B3	11	124267101	Silent	SNP	G	TCGA-VN-A88O-01A-11D-A34U-08	14008	124267101	10739415	38	19663											
IKBIP	121457	broad.mit.edu	37	chr12	99007742	99007742	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgtctttcggagcgttgctGttcgatcaatactgcttgaa	7	15	10	9	3	2	1	1	1	1	0	4	3	2	2	0	1	4	4	0	1	3	5			TCGA-VN-A88O-01A-11D-A34U-08	TCGA-VN-A88O-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18fadec2-995f-42b3-9f32-ac72d2670608	4756e8c9-7e46-469b-9b86-7683252186f5	g.chr12:99007742G>A	ENST00000342502.2	-	3	1085	c.674C>T	c.(673-675)aCa>aTa	p.T225I	IKBIP_ENST00000393042.3_3'UTR|IKBIP_ENST00000420861.1_Missense_Mutation_p.T119I	NM_201612.2	NP_963906.1	Q70UQ0	IKIP_HUMAN	IKBKB interacting protein	225					response to X-ray (GO:0010165)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				NS(1)|kidney(1)|large_intestine(1)|lung(1)|prostate(2)	6						GAGCGTTGCTGTTCGATCAAT	0.338																																						ENST00000342502.2																			0				NS(1)|kidney(1)|large_intestine(1)|lung(1)|prostate(2)	6						c.(673-675)aCa>aTa		IKBKB interacting protein							92	87	88					12																	99007742		2202	4300	6502	SO:0001583	missense	121457				induction of apoptosis|response to X-ray	endoplasmic reticulum membrane|integral to membrane	protein binding	g.chr12:99007742G>A	AJ539425	CCDS9067.1, CCDS9068.1, CCDS41822.1	12q23.1	2010-02-17			ENSG00000166130	ENSG00000166130			26430	protein-coding gene	gene with protein product	"I kappa B kinase interacting protein"	609861				15389287	Standard	NM_153687		Approved	FLJ31051, IKIP	uc001tfx.4	Q70UQ0	OTTHUMG00000170213	ENST00000342502.2:c.674C>T	12.37:g.99007742G>A	ENSP00000343471:p.Thr225Ile					IKBIP_ENST00000420861.1_Missense_Mutation_p.T119I|IKBIP_ENST00000393042.3_3'UTR	p.T225I	NM_201612.2	NP_963906.1	Q70UQ0	IKIP_HUMAN			3	1085	-			225					Q6ZWH4|Q70UP9|Q86V91|Q96ND2	Missense_Mutation	SNP	ENST00000342502.2	37	c.674C>T	CCDS9067.1	.	.	.	.	.	.	.	.	.	.	G	10.72	1.429325	0.25726	.	.	ENSG00000166130	ENST00000342502;ENST00000420861	T;T	0.40476	1.05;1.03	5.24	5.24	0.73138	.	.	.	.	.	T	0.31136	0.0787	L	0.28274	0.84	0.23150	N	0.998213	P	0.40970	0.734	B	0.43478	0.421	T	0.08534	-1.0717	9	0.10636	T	0.68	.	9.3881	0.38356	0.079:0.1567:0.7643:0.0	.	225	Q70UQ0	IKIP_HUMAN	I	225;119	ENSP00000343471:T225I;ENSP00000398023:T119I	ENSP00000343471:T225I	T	-	2	0	IKBIP	97531873	1.000000	0.71417	0.997000	0.53966	0.975000	0.68041	3.660000	0.54496	2.603000	0.88011	0.655000	0.94253	ACA		0.338	IKBIP-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000408003.2	NM_153687		26	63	0	0	0	1	0	26	63					A	99007742	G	A	99007742	3	1	404	1	0	0	0	0	1	0	0	0	7609	1377	48	3	382	3	IKBIP	12	99007742	Missense_Mutation	SNP	G	TCGA-VN-A88O-01A-11D-A34U-08		99007742	34844153	39	19664											
TGM1	7051	broad.mit.edu	37	chr14	24731392	24731392	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtccccagtcgtcatctgccGcatttcggcatgaacagcag	8	9	10	14	3	2	1	1	1	1	0	5	1	3	1	3	1	3	3	3	1	1	1	rs147479810	byFrequency	TCGA-VN-A88O-01A-11D-A34U-08	TCGA-VN-A88O-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18fadec2-995f-42b3-9f32-ac72d2670608	4756e8c9-7e46-469b-9b86-7683252186f5	g.chr14:24731392G>A	ENST00000206765.6	-	2	290	c.167C>T	c.(166-168)gCg>gTg	p.A56V	TGM1_ENST00000544573.1_5'UTR	NM_000359.2	NP_000350.1	P22735	TGM1_HUMAN	transglutaminase 1	56	Membrane anchorage region.				cell envelope organization (GO:0043163)|cellular protein modification process (GO:0006464)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|organ morphogenesis (GO:0009887)|peptide cross-linking (GO:0018149)	cell-cell adherens junction (GO:0005913)|cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)|intrinsic component of membrane (GO:0031224)	metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)	24				GBM - Glioblastoma multiforme(265;0.0186)	L-Glutamine(DB00130)	GTCATCTGCCGCATTTCGGCA	0.657													G|||	15	0.00299521	0	0	5008	,	,		17424	0.0139		0	False		,,,				2504	0.001					ENST00000206765.6																			0				breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)	24						c.(166-168)gCg>gTg		transglutaminase 1	L-Glutamine(DB00130)	G	VAL/ALA	1,4405	2.1+/-5.4	0,1,2202	59	59	59		167	-2.5	0	14	dbSNP_134	59	0,8600		0,0,4300	yes	missense	TGM1	NM_000359.2	64	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	56/818	24731392	1,13005	2203	4300	6503	SO:0001583	missense	7051				cell envelope organization|keratinization|peptide cross-linking	cornified envelope|intrinsic to membrane	acyltransferase activity|metal ion binding|protein binding|protein-glutamine gamma-glutamyltransferase activity	g.chr14:24731392G>A	D90287	CCDS9622.1	14q11.2	2013-05-02	2013-05-02		ENSG00000092295	ENSG00000092295	2.3.2.13	"Transglutaminases"	11777	protein-coding gene	gene with protein product	"K polypeptide epidermal type I, protein-glutamine-gamma-glutamyltransferase"	190195	"transglutaminase 1 (K polypeptide epidermal type I, protein-glutamine-gamma-glutamyltransferase)"	ICR2		11390390	Standard	NM_000359		Approved	TGASE, TGK, LI, LI1	uc001wod.3	P22735	OTTHUMG00000029329	ENST00000206765.6:c.167C>T	14.37:g.24731392G>A	ENSP00000206765:p.Ala56Val					TGM1_ENST00000544573.1_5'UTR	p.A56V	NM_000359.2	NP_000350.1	P22735	TGM1_HUMAN		GBM - Glioblastoma multiforme(265;0.0186)	2	290	-			56			Membrane anchorage region.		B4DWR7|Q197M4	Missense_Mutation	SNP	ENST00000206765.6	37	c.167C>T	CCDS9622.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	2.844	-0.239814	0.05944	2.27E-4	0.0	ENSG00000092295	ENST00000206765	T	0.80123	-1.34	4.34	-2.55	0.06288	.	2.555090	0.01435	N	0.014879	T	0.63070	0.2480	N	0.08118	0	0.09310	N	0.999999	B	0.20261	0.043	B	0.10450	0.005	T	0.51741	-0.8667	10	0.27082	T	0.32	3.2885	8.3949	0.32550	0.1095:0.1943:0.616:0.0802	.	56	P22735	TGM1_HUMAN	V	56	ENSP00000206765:A56V	ENSP00000206765:A56V	A	-	2	0	TGM1	23801232	0.000000	0.05858	0.000000	0.03702	0.059000	0.15707	-0.223000	0.09177	-1.230000	0.02561	-2.589000	0.00165	GCG		0.657	TGM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073160.6	NM_000359		10	62	0	0	0	1	0	10	62					A	24731392	G	A	24731392	3	1	404	1	0	0	0	0	1	0	0	0	15826	1087	38	1	2342	1	TGM1	14	24731392	Missense_Mutation	SNP	G	TCGA-VN-A88O-01A-11D-A34U-08		24731392	82618148	40	19665											
ADCY4	196883	broad.mit.edu	37	chr14	24791911	24791911	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttgggctccttcagcactccGggcctgaaggggccatggat	6	9	14	12	1	1	1	1	1	0	0	3	2	3	2	4	5	1	2	4	5	1	2			TCGA-VN-A88O-01A-11D-A34U-08	TCGA-VN-A88O-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18fadec2-995f-42b3-9f32-ac72d2670608	4756e8c9-7e46-469b-9b86-7683252186f5	g.chr14:24791911G>A	ENST00000310677.4	-	20	2459	c.2346C>T	c.(2344-2346)ccC>ccT	p.P782P	ADCY4_ENST00000418030.2_Silent_p.P782P|ADCY4_ENST00000554068.2_Silent_p.P782P	NM_001198568.1|NM_001198592.1|NM_139247.3	NP_001185497.1|NP_001185521.1|NP_640340.2	Q8NFM4	ADCY4_HUMAN	adenylate cyclase 4	782					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cAMP biosynthetic process (GO:0006171)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(265;0.0192)		TCAGCACTCCGGGCCTGAAGG	0.602																																						ENST00000310677.4																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						c.(2344-2346)ccC>ccT		adenylate cyclase 4							78	78	78					14																	24791911		2203	4300	6503	SO:0001819	synonymous_variant	196883				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding|protein binding	g.chr14:24791911G>A	AF497516	CCDS9627.1	14q11.2	2013-02-04			ENSG00000129467	ENSG00000129467	4.6.1.1	"Adenylate cyclases"	235	protein-coding gene	gene with protein product		600292				7766992	Standard	NM_001198592		Approved	AC4	uc001woy.3	Q8NFM4	OTTHUMG00000029347	ENST00000310677.4:c.2346C>T	14.37:g.24791911G>A						ADCY4_ENST00000418030.2_Silent_p.P782P|ADCY4_ENST00000554068.2_Silent_p.P782P	p.P782P	NM_001198568.1|NM_001198592.1|NM_139247.3	NP_001185497.1|NP_001185521.1|NP_640340.2	Q8NFM4	ADCY4_HUMAN		GBM - Glioblastoma multiforme(265;0.0192)	20	2459	-			782					B3KV74|D3DS75|Q17R40|Q6ZTM6|Q96ML7	Silent	SNP	ENST00000310677.4	37	c.2346C>T	CCDS9627.1																																																																																				0.602	ADCY4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073200.4			11	16	0	0	0	1	0	11	16					A	24791911	G	A	24791911	2	1	404	1	0	0	0	0	0	0	0	1	296	1103	39	2		2	ADCY4	14	24791911	Silent	SNP	G	TCGA-VN-A88O-01A-11D-A34U-08	60519	24791911	82557629	41	19666											
ACSBG1	23205	broad.mit.edu	37	chr15	78466000	78466000	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acttctggatgtggtagggcCgggccgccgcgttcatgttg	4	11	16	10	4	2	0	1	0	1	0	2	1	2	1	3	4	0	3	3	4	1	4	rs548841663		TCGA-VN-A88O-01A-11D-A34U-08	TCGA-VN-A88O-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18fadec2-995f-42b3-9f32-ac72d2670608	4756e8c9-7e46-469b-9b86-7683252186f5	g.chr15:78466000C>A	ENST00000258873.4	-	13	2229	c.2024G>T	c.(2023-2025)cGg>cTg	p.R675L	ACSBG1_ENST00000541759.1_Missense_Mutation_p.R433L|ACSBG1_ENST00000560817.1_Missense_Mutation_p.R433L	NM_001199377.1|NM_015162.4	NP_001186306.1|NP_055977.3	Q96GR2	ACBG1_HUMAN	acyl-CoA synthetase bubblegum family member 1	675					long-chain fatty acid metabolic process (GO:0001676)|myelination (GO:0042552)|ovarian follicle atresia (GO:0001552)|response to glucocorticoid (GO:0051384)|very long-chain fatty acid metabolic process (GO:0000038)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)	ATP binding (GO:0005524)|long-chain fatty acid-CoA ligase activity (GO:0004467)|very long-chain fatty acid-CoA ligase activity (GO:0031957)			endometrium(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	37						GTGGTAGGGCCGGGCCGCCGC	0.562																																						ENST00000258873.4																			0				endometrium(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	37						c.(2023-2025)cGg>cTg		acyl-CoA synthetase bubblegum family member 1							84	71	75					15																	78466000		2196	4293	6489	SO:0001583	missense	23205				long-chain fatty acid metabolic process|myelination|very long-chain fatty acid metabolic process	cytoplasmic membrane-bounded vesicle|endoplasmic reticulum|microsome	ATP binding|long-chain fatty acid-CoA ligase activity|very long-chain fatty acid-CoA ligase activity	g.chr15:78466000C>A	AB014531	CCDS10298.1	15q23-q24	2006-02-09			ENSG00000103740	ENSG00000103740		"Acyl-CoA synthetase family"	29567	protein-coding gene	gene with protein product	"bubblegum", "very long-chain acyl-CoA synthetase", "lipidosin"	614362				9734811, 10954726	Standard	NM_015162		Approved	BGM, FLJ30320, MGC14352, BG1, KIAA0631, hBG1, hsBG	uc002bdh.3	Q96GR2	OTTHUMG00000143734	ENST00000258873.4:c.2024G>T	15.37:g.78466000C>A	ENSP00000258873:p.Arg675Leu					ACSBG1_ENST00000541759.1_Missense_Mutation_p.R433L|ACSBG1_ENST00000560817.1_Missense_Mutation_p.R433L	p.R675L	NM_001199377.1|NM_015162.4	NP_001186306.1|NP_055977.3	Q96GR2	ACBG1_HUMAN			13	2229	-			675					B2RB61|O75126|Q76N27|Q9HC26	Missense_Mutation	SNP	ENST00000258873.4	37	c.2024G>T	CCDS10298.1	.	.	.	.	.	.	.	.	.	.	C	15.11	2.737441	0.49045	.	.	ENSG00000103740	ENST00000258873;ENST00000541759	T;T	0.10860	2.83;2.83	5.25	1.08	0.20341	.	0.456816	0.19804	N	0.105682	T	0.18299	0.0439	M	0.76938	2.355	0.32602	N	0.525785	B;B	0.29627	0.167;0.252	B;B	0.39935	0.051;0.314	T	0.13764	-1.0497	10	0.62326	D	0.03	-9.3566	8.8596	0.35249	0.0:0.6033:0.0:0.3967	.	671;675	B7Z2Y6;Q96GR2	.;ACBG1_HUMAN	L	675;433	ENSP00000258873:R675L;ENSP00000439955:R433L	ENSP00000258873:R675L	R	-	2	0	ACSBG1	76253055	0.760000	0.28428	0.549000	0.28204	0.507000	0.33981	1.231000	0.32624	0.381000	0.24851	0.591000	0.81541	CGG		0.562	ACSBG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000289802.2	NM_015162		11	47	1	0	1.58986e-06	1	1.91984e-06	11	47					A	78466000	C	A	78466000	3	1	404	1	0	0	0	0	1	0	0	0	173	652	23	5	158	5	ACSBG1	15	78466000	Missense_Mutation	SNP	C	TCGA-VN-A88O-01A-11D-A34U-08		78466000	24065392	42	19667											
ZNF830	91603	broad.mit.edu	37	chr17	33289179	33289179	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cactcagtttcctcttcacgGgaggtaacaagtagtgtgct	9	12	10	10	1	3	0	2	0	1	0	4	1	4	1	1	2	2	4	1	2	3	4			TCGA-VN-A88O-01A-11D-A34U-08	TCGA-VN-A88O-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18fadec2-995f-42b3-9f32-ac72d2670608	4756e8c9-7e46-469b-9b86-7683252186f5	g.chr17:33289179G>T	ENST00000361952.3	+	1	631	c.594G>T	c.(592-594)cgG>cgT	p.R198R	CCT6B_ENST00000421975.3_5'Flank|CCT6B_ENST00000314144.5_5'Flank|CCT6B_ENST00000436961.3_5'Flank	NM_052857.3	NP_443089.3	Q96NB3	ZN830_HUMAN	zinc finger protein 830	198					blastocyst growth (GO:0001832)|mitotic nuclear division (GO:0007067)|nuclear cell cycle DNA replication (GO:0033260)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			breast(1)|cervix(1)|endometrium(2)|large_intestine(1)|liver(2)|lung(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	13		Ovarian(249;0.17)				CCTCTTCACGGGAGGTAACAA	0.507																																						ENST00000361952.3																			0				breast(1)|cervix(1)|endometrium(2)|large_intestine(1)|liver(2)|lung(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						c.(592-594)cgG>cgT		zinc finger protein 830							66	61	62					17																	33289179		2203	4300	6503	SO:0001819	synonymous_variant	91603				cell division|mitosis	cytoplasm|nucleus	metal ion binding	g.chr17:33289179G>T	AK055707	CCDS32618.1	17q12	2013-10-23	2008-03-25	2008-03-25	ENSG00000198783	ENSG00000198783			28291	protein-coding gene	gene with protein product	"orphan maintenance of genome 1"		"coiled-coil domain containing 16"	CCDC16		23066043	Standard	NM_052857		Approved	MGC20398, OMCG1	uc002hih.4	Q96NB3	OTTHUMG00000179771	ENST00000361952.3:c.594G>T	17.37:g.33289179G>T							p.R198R	NM_052857.3	NP_443089.3	Q96NB3	ZN830_HUMAN			1	631	+		Ovarian(249;0.17)	198					Q96F60|Q96GZ5|Q9BU38	Silent	SNP	ENST00000361952.3	37	c.594G>T	CCDS32618.1																																																																																				0.507	ZNF830-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448018.1	NM_052857		3	36	1	0	0.115264	1	0.118982	3	36					T	33289179	G	T	33289179	2	4	404	1	0	0	0	0	0	0	0	1	18181	1219	43	5		5	ZNF830	17	33289179	Silent	SNP	G	TCGA-VN-A88O-01A-11D-A34U-08		33289179	47906031	43	19668											
SPOP	8405	broad.mit.edu	37	chr17	47696450	47696450	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccagtctttgccttgcacaaAcctatatgcccgttgactct	8	13	6	14	1	2	1	0	1	2	0	2	1	2	1	4	0	4	2	4	0	3	5			TCGA-VN-A88O-01A-11D-A34U-08	TCGA-VN-A88O-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18fadec2-995f-42b3-9f32-ac72d2670608	4756e8c9-7e46-469b-9b86-7683252186f5	g.chr17:47696450A>T	ENST00000393328.2	-	6	738	c.373T>A	c.(373-375)Ttt>Att	p.F125I	SPOP_ENST00000503676.1_Missense_Mutation_p.F125I|SPOP_ENST00000347630.2_Missense_Mutation_p.F125I|SPOP_ENST00000513080.1_5'Flank|SPOP_ENST00000393331.3_Missense_Mutation_p.F125I|SPOP_ENST00000504102.1_Missense_Mutation_p.F125I	NM_003563.3	NP_003554.1	O43791	SPOP_HUMAN	speckle-type POZ protein	125	Important for binding substrate proteins.|MATH. {ECO:0000255|PROSITE- ProRule:PRU00129}.|Required for nuclear localization.				glucose homeostasis (GO:0042593)|positive regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902237)|positive regulation of type B pancreatic cell apoptotic process (GO:2000676)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	Cul3-RING ubiquitin ligase complex (GO:0031463)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	ubiquitin protein ligase binding (GO:0031625)	p.F125V(1)		endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						CCTTGCACAAACCTATATGCC	0.433										Prostate(2;0.17)																												ENST00000393331.3																			1	Substitution - Missense(1)	p.F125V(1)	prostate(1)	endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						c.(373-375)Ttt>Att		speckle-type POZ protein							120	123	122					17																	47696450		2203	4300	6503	SO:0001583	missense	8405				mRNA processing	nucleus	protein binding	g.chr17:47696450A>T	AJ000644	CCDS11551.1	17q21.33	2013-01-09			ENSG00000121067	ENSG00000121067		"BTB/POZ domain containing"	11254	protein-coding gene	gene with protein product		602650				9414087	Standard	NM_001007227		Approved	TEF2, BTBD32	uc002ipg.3	O43791	OTTHUMG00000161496	ENST00000393328.2:c.373T>A	17.37:g.47696450A>T	ENSP00000377001:p.Phe125Ile	Prostate(2;0.17)				SPOP_ENST00000393328.2_Missense_Mutation_p.F125I|SPOP_ENST00000347630.2_Missense_Mutation_p.F125I|SPOP_ENST00000504102.1_Missense_Mutation_p.F125I|SPOP_ENST00000503676.1_Missense_Mutation_p.F125I	p.F125I	NM_001007226.1|NM_001007227.1	NP_001007227.1|NP_001007228.1	O43791	SPOP_HUMAN			7	843	-			125			MATH.|Required for nuclear localization.		B2R6S3|D3DTW7|Q53HJ1	Missense_Mutation	SNP	ENST00000393328.2	37	c.373T>A	CCDS11551.1	.	.	.	.	.	.	.	.	.	.	A	29.4	5.006836	0.93287	.	.	ENSG00000121067	ENST00000393328;ENST00000393331;ENST00000347630;ENST00000504102;ENST00000503536;ENST00000503676;ENST00000513872;ENST00000509079;ENST00000505581;ENST00000507970;ENST00000514121	T;T;T;T;T;T;T;T;T	0.57436	0.4;0.4;0.4;0.4;0.4;0.4;0.4;0.4;0.4	5.41	5.41	0.78517	TRAF-type (1);TRAF-like (1);MATH (3);	0.000000	0.85682	D	0.000000	T	0.74306	0.3699	M	0.82630	2.6	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.77156	-0.2691	10	0.51188	T	0.08	-15.9789	15.258	0.73599	1.0:0.0:0.0:0.0	.	125	O43791	SPOP_HUMAN	I	125;125;125;125;9;125;78;125;125;125;125	ENSP00000377001:F125I;ENSP00000377004:F125I;ENSP00000240327:F125I;ENSP00000425905:F125I;ENSP00000420908:F125I;ENSP00000426986:F125I;ENSP00000420960:F125I;ENSP00000426262:F125I;ENSP00000424119:F125I	ENSP00000240327:F125I	F	-	1	0	SPOP	45051449	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.131000	0.94446	2.261000	0.74972	0.460000	0.39030	TTT		0.433	SPOP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365154.2	NM_003563		46	88	0	0	0	1	0	46	88					T	47696450	A	T	47696450	3	4	404	1	0	0	0	0	1	0	0	0	15083	43	2	5	775	5	SPOP	17	47696450	Missense_Mutation	SNP	A	TCGA-VN-A88O-01A-11D-A34U-08	14407271	47696450	33498760	44	19669											
SBNO2	22904	broad.mit.edu	37	chr19	1149395	1149395	+	Frame_Shift_Del	DEL	G	G	-																															cgctggagaaggcagggtatGgcggcagcgagaaggtgttc																										TCGA-VN-A88O-01A-11D-A34U-08	TCGA-VN-A88O-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18fadec2-995f-42b3-9f32-ac72d2670608	4756e8c9-7e46-469b-9b86-7683252186f5	g.chr19:1149395delG	ENST00000361757.3	-	3	377	c.140delC	c.(139-141)ccafs	p.P47fs	SBNO2_ENST00000587024.1_Frame_Shift_Del_p.P47fs	NM_014963.2	NP_055778.2	Q9Y2G9	SBNO2_HUMAN	strawberry notch homolog 2 (Drosophila)	47					bone mineralization (GO:0030282)|bone trabecula morphogenesis (GO:0061430)|macrophage activation involved in immune response (GO:0002281)|negative regulation of transcription, DNA-templated (GO:0045892)|osteoclast fusion (GO:0072675)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of inflammatory response (GO:0050727)|transcription, DNA-templated (GO:0006351)					NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGCAGGGTATGGCGGCAGCGA	0.617																																						ENST00000361757.3																			0				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						c.(139-141)cafs		strawberry notch homolog 2 (Drosophila)							33	51	45					19																	1149395		2062	4099	6161	SO:0001589	frameshift_variant	22904				macrophage activation involved in immune response|negative regulation of transcription, DNA-dependent|regulation of inflammatory response|transcription, DNA-dependent			g.chr19:1149395delG	AK074102	CCDS45894.1, CCDS45895.1	19p13.3	2008-02-05	2006-10-06	2006-10-06		ENSG00000064932			29158	protein-coding gene	gene with protein product		615729	"KIAA0963"	KIAA0963		10231032	Standard	NM_014963		Approved	FLJ00173, Stno, Sno	uc002lrk.4	Q9Y2G9		ENST00000361757.3:c.140delC	19.37:g.1149395delG	ENSP00000354733:p.Pro47fs					SBNO2_ENST00000587024.1_Frame_Shift_Del_p.P47fs	p.P47fs	NM_014963.2	NP_055778.2	Q9Y2G9	SBNO2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	3	377	-		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)	47					A8K8P2|B3KWJ1|O75257|Q3KQX0|Q8TEM0	Frame_Shift_Del	DEL	ENST00000361757.3	37	c.140delC	CCDS45894.1																																																																																				0.617	SBNO2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000458065.2	NM_014963		2	4						2	4	---	---	---	---	-	1149395	G	-	1149395	7	5	404	1	0	1	0	1	0	0	0	0	13863	1348	47	0	4192	0	SBNO2	19	1149395	Frame_Shift_Del	DEL	G	TCGA-VN-A88O-01A-11D-A34U-08		1149395	57979588	45	19670											
MUC16	94025	broad.mit.edu	37	chr19	9006353	9006353	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	taaggtctcacctgagcaagGtcagtctgcagccagaatac	12	8	10	11	0	3	2	2	1	2	1	4	2	3	2	2	2	4	2	2	2	4	2			TCGA-VN-A88O-01A-11D-A34U-08	TCGA-VN-A88O-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18fadec2-995f-42b3-9f32-ac72d2670608	4756e8c9-7e46-469b-9b86-7683252186f5	g.chr19:9006353G>T	ENST00000397910.4	-	45	39868	c.39665C>A	c.(39664-39666)aCc>aAc	p.T13222N	MUC16_ENST00000380951.5_5'Flank	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	13224	SEA 8. {ECO:0000255|PROSITE- ProRule:PRU00188}.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CCTGAGCAAGGTCAGTCTGCA	0.502																																						ENST00000397910.4																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(39664-39666)aCc>aAc		mucin 16, cell surface associated							102	82	89					19																	9006353		1994	4168	6162	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9006353G>T	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.39665C>A	19.37:g.9006353G>T	ENSP00000381008:p.Thr13222Asn						p.T13222N	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			45	39868	-			13224			SEA 8.		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.39665C>A	CCDS54212.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	11.73|11.73	1.726674|1.726674	0.30593|0.30593	.|.	.|.	ENSG00000181143|ENSG00000181143	ENST00000542240|ENST00000397910;ENST00000441155	.|T	.|0.33654	.|1.4	2.85|2.85	-2.75|-2.75	0.05914|0.05914	.|SEA (1);	.|.	.|.	.|.	.|.	T|T	0.30293|0.30293	0.0760|0.0760	N|N	0.14661|0.14661	0.345|0.345	.|.	.|.	.|.	.|D;P	.|0.55172	.|0.97;0.908	.|P;P	.|0.61397	.|0.5;0.888	T|T	0.32188|0.32188	-0.9916|-0.9916	4|8	.|0.87932	.|D	.|0	-2.9317|-2.9317	2.6564|2.6564	0.05013|0.05013	0.2498:0.0:0.3639:0.3862|0.2498:0.0:0.3639:0.3862	.|.	.|20867;13222	.|Q8WXI7;B5ME49	.|MUC16_HUMAN;.	T|N	62|13222;353	.|ENSP00000381008:T13222N	.|ENSP00000381008:T13222N	P|T	-|-	1|2	0|0	MUC16|MUC16	8867353|8867353	0.000000|0.000000	0.05858|0.05858	0.001000|0.001000	0.08648|0.08648	0.005000|0.005000	0.04900|0.04900	-0.270000|-0.270000	0.08584|0.08584	-0.446000|-0.446000	0.07149|0.07149	0.455000|0.455000	0.32223|0.32223	CCT|ACC		0.502	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		4	122	1	0	0.150653	1	0.153045	4	122					T	9006353	G	T	9006353	3	4	404	1	0	0	0	0	1	0	0	0	9973	1261	44	5	4018	5	MUC16	19	9006353	Missense_Mutation	SNP	G	TCGA-VN-A88O-01A-11D-A34U-08	7856958	9006353	50122630	46	19671			1	44		2	2	40	N	G_C	6.802809e-05
MUC16	94025	broad.mit.edu	37	chr19	9006392	9006392	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acagagggccaacactggtgCtcttgaacaagggcttgagc	11	7	13	10	0	1	3	0	2	1	1	1	3	1	3	1	3	4	2	1	3	3	2	rs201544283		TCGA-VN-A88O-01A-11D-A34U-08	TCGA-VN-A88O-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18fadec2-995f-42b3-9f32-ac72d2670608	4756e8c9-7e46-469b-9b86-7683252186f5	g.chr19:9006392C>T	ENST00000397910.4	-	45	39829	c.39626G>A	c.(39625-39627)aGc>aAc	p.S13209N	MUC16_ENST00000380951.5_5'Flank	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	13211	SEA 8. {ECO:0000255|PROSITE- ProRule:PRU00188}.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AACACTGGTGCTCTTGAACAA	0.562																																						ENST00000397910.4																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(39625-39627)aGc>aAc		mucin 16, cell surface associated							102	85	91					19																	9006392		2027	4192	6219	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9006392C>T	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.39626G>A	19.37:g.9006392C>T	ENSP00000381008:p.Ser13209Asn						p.S13209N	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			45	39829	-			13211			SEA 8.		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.39626G>A	CCDS54212.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	0.006|0.006	-2.043467|-2.043467	0.00398|0.00398	.|.	.|.	ENSG00000181143|ENSG00000181143	ENST00000542240|ENST00000397910;ENST00000441155	.|T	.|0.29397	.|1.57	2.85|2.85	-3.69|-3.69	0.04450|0.04450	.|SEA (1);	.|.	.|.	.|.	.|.	T|T	0.44371|0.44371	0.1290|0.1290	.|.	.|.	.|.	.|.	.|.	.|.	.|B;P	.|0.39044	.|0.0;0.656	.|B;P	.|0.54759	.|0.001;0.76	T|T	0.56763|0.56763	-0.7925|-0.7925	3|7	.|0.87932	.|D	.|0	-2.947|-2.947	10.1049|10.1049	0.42528|0.42528	0.0:0.5653:0.0:0.4347|0.0:0.5653:0.0:0.4347	.|.	.|20854;13209	.|Q8WXI7;B5ME49	.|MUC16_HUMAN;.	T|N	49|13209;340	.|ENSP00000381008:S13209N	.|ENSP00000381008:S13209N	A|S	-|-	1|2	0|0	MUC16|MUC16	8867392|8867392	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.000000|0.000000	0.00434|0.00434	-0.863000|-0.863000	0.04259|0.04259	-1.669000|-1.669000	0.01470|0.01470	-2.594000|-2.594000	0.00164|0.00164	GCA|AGC		0.562	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		4	116	0	0	0	1	0	4	116					T	9006392	C	T	9006392	3	4	404	1	0	0	0	0	1	0	0	0	9973	797	28	3	4057	3	MUC16	19	9006392	Missense_Mutation	SNP	C	TCGA-VN-A88O-01A-11D-A34U-08	39	9006392	50122591	47	19672			1	44		2	2	40	N	G_C	6.802809e-05
PGLYRP2	114770	broad.mit.edu	37	chr19	15587012	15587012	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggagcaatggccacaacatCtggaaaggtatctccagtct	12	9	10	10	0	3	0	0	0	3	0	4	2	3	2	2	4	2	2	2	4	4	1			TCGA-VN-A88O-01A-11D-A34U-08	TCGA-VN-A88O-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18fadec2-995f-42b3-9f32-ac72d2670608	4756e8c9-7e46-469b-9b86-7683252186f5	g.chr19:15587012C>A	ENST00000340880.4	-	2	949	c.469G>T	c.(469-471)Gat>Tat	p.D157Y	PGLYRP2_ENST00000292609.4_Missense_Mutation_p.D157Y	NM_052890.3	NP_443122.3	Q96PD5	PGRP2_HUMAN	peptidoglycan recognition protein 2	157					defense response to Gram-positive bacterium (GO:0050830)|detection of bacterium (GO:0016045)|growth of symbiont in host (GO:0044117)|innate immune response (GO:0045087)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of natural killer cell differentiation involved in immune response (GO:0032827)|pattern recognition receptor signaling pathway (GO:0002221)|peptide amidation (GO:0001519)|peptidoglycan catabolic process (GO:0009253)|regulation of inflammatory response (GO:0050727)	extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)	N-acetylmuramoyl-L-alanine amidase activity (GO:0008745)|peptidoglycan binding (GO:0042834)|peptidoglycan receptor activity (GO:0016019)|zinc ion binding (GO:0008270)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(3)|prostate(2)|skin(3)|stomach(2)|urinary_tract(1)	28						GCCACAACATCTGGAAAGGTA	0.582																																						ENST00000292609.4																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(3)|prostate(2)|skin(3)|stomach(2)|urinary_tract(1)	28						c.(469-471)Gat>Tat		peptidoglycan recognition protein 2							80	75	77					19																	15587012		2203	4300	6503	SO:0001583	missense	114770				defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptide amidation|peptidoglycan catabolic process	extracellular region|intracellular|membrane	N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding	g.chr19:15587012C>A	AY358156	CCDS12330.2	19p13.12	2010-04-27			ENSG00000161031	ENSG00000161031	3.5.1.28		30013	protein-coding gene	gene with protein product	"peptidoglycan recognition protein L precursor", "peptidoglycan recognition protein-like", "N-acetylmuramoyl-L-alanine amidase"	608199				11461926, 12669421, 14506276	Standard	NM_052890		Approved	PGRP-L, PGLYRPL, TAGL-like, tagL, tagL-alpha, tagl-beta, PGRPL	uc002nbf.4	Q96PD5	OTTHUMG00000150690	ENST00000340880.4:c.469G>T	19.37:g.15587012C>A	ENSP00000345968:p.Asp157Tyr					PGLYRP2_ENST00000340880.4_Missense_Mutation_p.D157Y	p.D157Y			Q96PD5	PGRP2_HUMAN			2	598	-			157					A8K050|A8K8C7|B2RMZ2|B7ZM33|Q68CK1|Q96N74|Q9UC60	Missense_Mutation	SNP	ENST00000340880.4	37	c.469G>T	CCDS12330.2	.	.	.	.	.	.	.	.	.	.	C	13.40	2.226544	0.39300	.	.	ENSG00000161031	ENST00000340880;ENST00000292609	T;T	0.08102	3.2;3.13	3.56	2.51	0.30379	.	0.475652	0.17490	N	0.172382	T	0.16938	0.0407	L	0.57536	1.79	0.09310	N	1	D;D	0.61080	0.989;0.981	P;P	0.58172	0.834;0.687	T	0.04005	-1.0985	10	0.72032	D	0.01	-13.5073	7.1839	0.25789	0.0:0.8693:0.0:0.1307	.	157;157	Q96PD5-2;Q96PD5	.;PGRP2_HUMAN	Y	157	ENSP00000345968:D157Y;ENSP00000292609:D157Y	ENSP00000292609:D157Y	D	-	1	0	PGLYRP2	15448012	0.000000	0.05858	0.021000	0.16686	0.034000	0.12701	-0.010000	0.12743	0.625000	0.30304	0.467000	0.42956	GAT		0.582	PGLYRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319626.1	NM_052890		10	54	1	0	0.00621372	1	0.0067403	10	54					A	15587012	C	A	15587012	3	1	404	1	0	0	0	0	1	0	0	0	11794	913	32	5	1277	5	PGLYRP2	19	15587012	Missense_Mutation	SNP	C	TCGA-VN-A88O-01A-11D-A34U-08	6580620	15587012	43541971	48	19673											
NUDT19	390916	broad.mit.edu	37	chr19	33183247	33183247	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gacgtagccttccgcatctgCgccgtgcgggaggcctttga	5	9	14	13	5	1	1	0	1	1	0	2	3	2	2	4	2	3	2	4	2	1	3			TCGA-VN-A88O-01A-11D-A34U-08	TCGA-VN-A88O-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18fadec2-995f-42b3-9f32-ac72d2670608	4756e8c9-7e46-469b-9b86-7683252186f5	g.chr19:33183247C>T	ENST00000397061.3	+	1	381	c.381C>T	c.(379-381)tgC>tgT	p.C127C	CTD-2538C1.2_ENST00000592431.1_lincRNA	NM_001105570.1	NP_001099040.1	A8MXV4	NUD19_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 19	127	Nudix hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00794}.					mitochondrion (GO:0005739)|peroxisome (GO:0005777)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)|receptor binding (GO:0005102)			endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	8	Esophageal squamous(110;0.137)					TCCGCATCTGCGCCGTGCGGG	0.701																																						ENST00000397061.3																			0				endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	8						c.(379-381)tgC>tgT		nudix (nucleoside diphosphate linked moiety X)-type motif 19							16	20	18					19																	33183247		2124	4241	6365	SO:0001819	synonymous_variant	390916					mitochondrion|peroxisome	hydrolase activity|metal ion binding	g.chr19:33183247C>T		CCDS42543.1	19q13.11	2011-11-16			ENSG00000213965	ENSG00000213965		"Nudix motif containing"	32036	protein-coding gene	gene with protein product							Standard	NM_001105570		Approved	RP2	uc010edf.3	A8MXV4		ENST00000397061.3:c.381C>T	19.37:g.33183247C>T							p.C127C	NM_001105570.1	NP_001099040.1	A8MXV4	NUD19_HUMAN			1	381	+	Esophageal squamous(110;0.137)		127			Nudix hydrolase.			Silent	SNP	ENST00000397061.3	37	c.381C>T	CCDS42543.1																																																																																				0.701	NUDT19-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000450338.3	XM_372723		3	19	0	0	0	1	0	3	19					T	33183247	C	T	33183247	2	4	404	1	0	0	0	0	0	0	0	1	10736	776	27	1		1	NUDT19	19	33183247	Silent	SNP	C	TCGA-VN-A88O-01A-11D-A34U-08	17596235	33183247	25945736	49	19674											
ARHGEF1	9138	broad.mit.edu	37	chr19	42396405	42396405	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctctctcttgagcaggttCtccgggtgccggtccctccc	2	13	10	16	2	3	1	0	1	3	0	8	1	5	1	4	3	2	2	4	3	0	3			TCGA-VN-A88O-01A-11D-A34U-08	TCGA-VN-A88O-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18fadec2-995f-42b3-9f32-ac72d2670608	4756e8c9-7e46-469b-9b86-7683252186f5	g.chr19:42396405C>A	ENST00000354532.3	+	6	476	c.328C>A	c.(328-330)Ctc>Atc	p.L110I	ARHGEF1_ENST00000347545.4_Missense_Mutation_p.L77I|ARHGEF1_ENST00000599846.1_Missense_Mutation_p.L110I|ARHGEF1_ENST00000337665.4_Missense_Mutation_p.L125I|ARHGEF1_ENST00000378152.4_Missense_Mutation_p.L92I|ARHGEF1_ENST00000596957.1_3'UTR	NM_004706.3	NP_004697.2	Q92888	ARHG1_HUMAN	Rho guanine nucleotide exchange factor (GEF) 1	110	RGSL.				cell proliferation (GO:0008283)|negative regulation of axonogenesis (GO:0050771)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of axonogenesis (GO:0050770)|Rho protein signal transduction (GO:0007266)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|poly(A) RNA binding (GO:0044822)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|endometrium(8)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		Renal(1328;0.000518)|Hepatocellular(1079;0.0046)|Medulloblastoma(540;0.0425)		Epithelial(262;5.89e-46)|GBM - Glioblastoma multiforme(1328;2.49e-12)|STAD - Stomach adenocarcinoma(1328;0.00644)		TGAGCAGGTTCTCCGGGTGCC	0.612																																						ENST00000599846.1																			0				breast(2)|endometrium(8)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						c.(328-330)Ctc>Atc		Rho guanine nucleotide exchange factor (GEF) 1							136	126	130					19																	42396405		2203	4300	6503	SO:0001583	missense	0				cell proliferation|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway|positive regulation of axonogenesis|regulation of Rho protein signal transduction|Rho protein signal transduction	cytosol|plasma membrane	GTPase activator activity|protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr19:42396405C>A	U64105	CCDS12590.1, CCDS12591.1, CCDS12592.1	19q13.13	2014-06-19			ENSG00000076928	ENSG00000076928		"Rho guanine nucleotide exchange factors"	681	protein-coding gene	gene with protein product		601855				8810315, 9135076	Standard	NM_004706		Approved	P115-RHOGEF, SUB1.5, LBCL2	uc002osa.3	Q92888	OTTHUMG00000182679	ENST00000354532.3:c.328C>A	19.37:g.42396405C>A	ENSP00000346532:p.Leu110Ile					ARHGEF1_ENST00000347545.4_Missense_Mutation_p.L77I|ARHGEF1_ENST00000378152.4_Missense_Mutation_p.L92I|ARHGEF1_ENST00000596957.1_3'UTR|ARHGEF1_ENST00000354532.3_Missense_Mutation_p.L110I|ARHGEF1_ENST00000337665.4_Missense_Mutation_p.L125I	p.L110I			Q92888	ARHG1_HUMAN		Epithelial(262;5.89e-46)|GBM - Glioblastoma multiforme(1328;2.49e-12)|STAD - Stomach adenocarcinoma(1328;0.00644)	6	453	+		Renal(1328;0.000518)|Hepatocellular(1079;0.0046)|Medulloblastoma(540;0.0425)	110			RGSL.		O00513|Q8N4J4|Q96BF4|Q96F17|Q9BSB1	Missense_Mutation	SNP	ENST00000354532.3	37	c.328C>A	CCDS12591.1	.	.	.	.	.	.	.	.	.	.	C	18.18	3.567821	0.65651	.	.	ENSG00000076928	ENST00000354532;ENST00000347545;ENST00000316079;ENST00000337665;ENST00000378152	D;D;D;D	0.85702	-2.02;-2.02;-2.02;-2.02	4.04	3.0	0.34707	Regulator of G protein signalling superfamily (1);Regulator of G protein signalling-like fold (1);	0.100598	0.41001	D	0.000973	D	0.90741	0.7094	M	0.76838	2.35	0.39536	D	0.968744	D;D;D;D;D	0.89917	0.999;0.997;0.998;1.0;0.998	D;D;D;D;D	0.91635	0.998;0.999;0.99;0.999;0.999	D	0.91086	0.4903	10	0.87932	D	0	-6.3048	9.7205	0.40300	0.0:0.8953:0.0:0.1047	.	92;125;77;110;170	Q6NX52;Q92888-3;Q92888-2;Q92888;Q8NF33	.;.;.;ARHG1_HUMAN;.	I	110;77;146;125;92	ENSP00000346532:L110I;ENSP00000344429:L77I;ENSP00000337261:L125I;ENSP00000367394:L92I	ENSP00000323044:L146I	L	+	1	0	ARHGEF1	47088245	0.861000	0.29849	0.938000	0.37757	0.772000	0.43724	2.134000	0.42102	1.070000	0.40811	0.306000	0.20318	CTC		0.612	ARHGEF1-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000463360.1	NM_199002		5	134	1	0	0.00116845	1	0.00128932	5	134					A	42396405	C	A	42396405	3	1	404	1	0	0	0	0	1	0	0	0	893	913	32	5	395	5	ARHGEF1	19	42396405	Missense_Mutation	SNP	C	TCGA-VN-A88O-01A-11D-A34U-08	9213158	42396405	16732578	50	19675											
SNPH	9751	broad.mit.edu	37	chr20	1281299	1281299	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccctgcagcagaaggaggtGtgcatccggcacctgaaagc	10	5	13	13	1	0	2	0	1	0	1	1	3	1	3	4	3	4	4	4	3	2	0			TCGA-VN-A88O-01A-11D-A34U-08	TCGA-VN-A88O-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18fadec2-995f-42b3-9f32-ac72d2670608	4756e8c9-7e46-469b-9b86-7683252186f5	g.chr20:1281299G>T	ENST00000381873.3	+	5	488	c.252G>T	c.(250-252)gtG>gtT	p.V84V	SNPH_ENST00000381867.1_Silent_p.V128V	NM_014723.2	NP_055538.2	O15079	SNPH_HUMAN	syntaphilin	84					brain development (GO:0007420)|neuron differentiation (GO:0030182)|neurotransmitter secretion (GO:0007269)|synaptic vesicle docking involved in exocytosis (GO:0016081)	cell junction (GO:0030054)|cytoplasmic microtubule (GO:0005881)|integral component of membrane (GO:0016021)|mitochondrial membrane (GO:0031966)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|presynaptic membrane (GO:0042734)	syntaxin-1 binding (GO:0017075)			endometrium(2)|large_intestine(4)|lung(10)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						AGAAGGAGGTGTGCATCCGGC	0.652																																						ENST00000381867.1																			0				endometrium(2)|large_intestine(4)|lung(10)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						c.(382-384)gtG>gtT		syntaphilin							46	42	43					20																	1281299		2202	4300	6502	SO:0001819	synonymous_variant	9751				synaptic vesicle docking involved in exocytosis	cell junction|integral to membrane|synapse|synaptosome	syntaxin-1 binding	g.chr20:1281299G>T		CCDS13012.1	20p13	2008-07-02			ENSG00000101298	ENSG00000101298			15931	protein-coding gene	gene with protein product		604942				10707983	Standard	NM_014723		Approved	bA314N13.5	uc002wes.3	O15079	OTTHUMG00000031662	ENST00000381873.3:c.252G>T	20.37:g.1281299G>T						SNPH_ENST00000381873.3_Silent_p.V84V	p.V128V			O15079	SNPH_HUMAN			6	1026	+			84					Q8IYI3	Silent	SNP	ENST00000381873.3	37	c.384G>T	CCDS13012.1																																																																																				0.652	SNPH-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000145240.2	NM_014723		7	36	1	0	2.0095e-06	1	2.38163e-06	7	36					T	1281299	G	T	1281299	2	4	404	1	0	0	0	0	0	0	0	1	14850	1364	48	5		5	SNPH	20	1281299	Silent	SNP	G	TCGA-VN-A88O-01A-11D-A34U-08		1281299	61744221	51	19676											
PROKR2	128674	broad.mit.edu	37	chr20	5283271	5283271	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aggaccgtttctgttgcaaaGtaagccgatgggatggcaat	11	10	13	7	2	1	0	0	0	1	0	1	3	1	2	2	3	2	5	2	3	3	3			TCGA-VN-A88O-01A-11D-A34U-08	TCGA-VN-A88O-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18fadec2-995f-42b3-9f32-ac72d2670608	4756e8c9-7e46-469b-9b86-7683252186f5	g.chr20:5283271G>T	ENST00000217270.3	-	2	569	c.570C>A	c.(568-570)taC>taA	p.Y190*	PROKR2_ENST00000546004.1_Nonsense_Mutation_p.Y190*	NM_144773.2	NP_658986.1	Q8NFJ6	PKR2_HUMAN	prokineticin receptor 2	190					circadian rhythm (GO:0007623)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	neuropeptide Y receptor activity (GO:0004983)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(3)|lung(22)|ovary(5)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	53						CTGTTGCAAAGTAAGCCGATG	0.498										HNSCC(71;0.22)																												ENST00000546004.1																			0				autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(3)|lung(22)|ovary(5)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	53						c.(568-570)taC>taA		prokineticin receptor 2							149	150	149					20																	5283271		2203	4300	6503	SO:0001587	stop_gained	128674					integral to membrane|plasma membrane	neuropeptide Y receptor activity	g.chr20:5283271G>T	AL121755	CCDS13089.1	20p12.3	2012-08-08	2006-02-15	2006-02-15	ENSG00000101292	ENSG00000101292		"GPCR / Class A : Prokineticin receptors"	15836	protein-coding gene	gene with protein product		607123	"G protein-coupled receptor 73-like 1", "Kallmann syndrome 3 (autosomal dominant)"	GPR73L1, KAL3		11886876, 17054399	Standard	NM_144773		Approved	GPR73b, PKR2, GPRg2, dJ680N4.3	uc010zqw.2	Q8NFJ6	OTTHUMG00000031800	ENST00000217270.3:c.570C>A	20.37:g.5283271G>T	ENSP00000217270:p.Tyr190*	HNSCC(71;0.22)				PROKR2_ENST00000217270.3_Nonsense_Mutation_p.Y190*	p.Y190*			Q8NFJ6	PKR2_HUMAN			3	816	-			190					A5JUU1|Q2M3C0|Q5TDY1|Q9NTT0	Nonsense_Mutation	SNP	ENST00000217270.3	37	c.570C>A	CCDS13089.1	.	.	.	.	.	.	.	.	.	.	G	36	5.778585	0.96929	.	.	ENSG00000101292	ENST00000546004;ENST00000217270	.	.	.	5.31	3.34	0.38264	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.09338	T	0.73	.	9.9267	0.41496	0.1492:0.0:0.8508:0.0	.	.	.	.	X	190	.	ENSP00000217270:Y190X	Y	-	3	2	PROKR2	5231271	1.000000	0.71417	1.000000	0.80357	0.860000	0.49131	1.543000	0.36147	2.499000	0.84300	0.655000	0.94253	TAC		0.498	PROKR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077854.1	NM_144773		6	123	1	0	3.59834e-05	1	4.18715e-05	6	123					T	5283271	G	T	5283271	4	4	404	1	0	0	0	0	0	1	0	0	12553	1024	36	5	587	5	PROKR2	20	5283271	Nonsense_Mutation	SNP	G	TCGA-VN-A88O-01A-11D-A34U-08	4001972	5283271	57742249	52	19677											
PKNOX1	5316	broad.mit.edu	37	chr21	44433202	44433202	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	taaaagcaatccaggttttgCgcattcatcttcttgagctg	10	14	8	9	1	3	1	1	1	2	0	4	1	4	1	1	1	3	4	1	1	3	6			TCGA-VN-A88O-01A-11D-A34U-08	TCGA-VN-A88O-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18fadec2-995f-42b3-9f32-ac72d2670608	4756e8c9-7e46-469b-9b86-7683252186f5	g.chr21:44433202C>T	ENST00000291547.5	+	5	587	c.376C>T	c.(376-378)Cgc>Tgc	p.R126C	PKNOX1_ENST00000432907.2_Missense_Mutation_p.R9C	NM_004571.3	NP_004562.2	P55347	PKNX1_HUMAN	PBX/knotted 1 homeobox 1	126			R -> H (in dbSNP:rs9976017).		angiogenesis (GO:0001525)|camera-type eye development (GO:0043010)|erythrocyte differentiation (GO:0030218)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|T cell differentiation (GO:0030217)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(3)|endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(8)|ovary(1)|prostate(1)	22						CCAGGTTTTGCGCATTCATCT	0.373																																						ENST00000291547.5																			0				cervix(3)|endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(8)|ovary(1)|prostate(1)	22						c.(376-378)Cgc>Tgc		PBX/knotted 1 homeobox 1							139	135	136					21																	44433202		2203	4300	6503	SO:0001583	missense	5316						sequence-specific DNA binding	g.chr21:44433202C>T		CCDS13692.1, CCDS68211.1	21q22.3	2011-06-20			ENSG00000160199	ENSG00000160199		"Homeoboxes / TALE class"	9022	protein-coding gene	gene with protein product		602100				9479508	Standard	NM_001286258		Approved	PREP1	uc002zcq.1	P55347	OTTHUMG00000086833	ENST00000291547.5:c.376C>T	21.37:g.44433202C>T	ENSP00000291547:p.Arg126Cys					PKNOX1_ENST00000432907.2_Missense_Mutation_p.R9C	p.R126C	NM_004571.3	NP_004562.2	P55347	PKNX1_HUMAN			5	587	+			126		R -> H (in dbSNP:rs9976017).			O00528|Q8IWT7	Missense_Mutation	SNP	ENST00000291547.5	37	c.376C>T	CCDS13692.1	.	.	.	.	.	.	.	.	.	.	C	23.7	4.449830	0.84101	.	.	ENSG00000160199	ENST00000291547;ENST00000432907	T;T	0.35973	1.28;1.28	5.58	4.68	0.58851	.	0.000000	0.85682	D	0.000000	T	0.64757	0.2627	M	0.86178	2.8	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.996;0.997	T	0.72304	-0.4333	10	0.87932	D	0	-0.796	15.6835	0.77391	0.138:0.862:0.0:0.0	.	126;126;126	Q5DNB2;P55347;P55347-2	.;PKNX1_HUMAN;.	C	126;9	ENSP00000291547:R126C;ENSP00000402243:R9C	ENSP00000291547:R126C	R	+	1	0	PKNOX1	43306271	1.000000	0.71417	0.935000	0.37517	0.996000	0.88848	5.570000	0.67398	1.314000	0.45095	0.561000	0.74099	CGC		0.373	PKNOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195520.3			7	107	0	0	0	1	0	7	107					T	44433202	C	T	44433202	3	4	404	1	0	0	0	0	1	0	0	0	11982	768	27	1	390	1	PKNOX1	21	44433202	Missense_Mutation	SNP	C	TCGA-VN-A88O-01A-11D-A34U-08		44433202	3696693	53	19678											
HUWE1	10075	broad.mit.edu	37	chrX	53563401	53563401	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taaagtagcactccagaagaCggttgtcatatacagctttg	13	11	9	8	1	1	2	1	0	0	2	2	2	2	2	1	1	3	4	1	1	6	6			TCGA-VN-A88O-01A-11D-A34U-08	TCGA-VN-A88O-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18fadec2-995f-42b3-9f32-ac72d2670608	4756e8c9-7e46-469b-9b86-7683252186f5	g.chrX:53563401C>T	ENST00000342160.3	-	78	12822	c.12365G>A	c.(12364-12366)cGt>cAt	p.R4122H	HUWE1_ENST00000262854.6_Missense_Mutation_p.R4122H			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	4122	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				base-excision repair (GO:0006284)|cell differentiation (GO:0030154)|histone ubiquitination (GO:0016574)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)	p.R4012H(1)		NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						CTCCAGAAGACGGTTGTCATA	0.493																																						ENST00000342160.3																			1	Substitution - Missense(1)	p.R4012H(1)	upper_aerodigestive_tract(1)	NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						c.(12364-12366)cGt>cAt		HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase							197	169	179					X																	53563401		2203	4300	6503	SO:0001583	missense	10075				base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity	g.chrX:53563401C>T	AB071605	CCDS35301.1	Xp11.22	2014-06-09	2012-02-23		ENSG00000086758	ENSG00000086758			30892	protein-coding gene	gene with protein product		300697	"HECT, UBA and WWE domain containing 1"			9205841, 10998601	Standard	NM_031407		Approved	Ib772, KIAA0312, UREB1	uc004dsp.4	Q7Z6Z7	OTTHUMG00000021617	ENST00000342160.3:c.12365G>A	X.37:g.53563401C>T	ENSP00000340648:p.Arg4122His					HUWE1_ENST00000262854.6_Missense_Mutation_p.R4122H	p.R4122H			Q7Z6Z7	HUWE1_HUMAN			78	12822	-			4122			HECT.		O15029|Q4G2Z2|Q5H961|Q6P4D0|Q8NG67|Q9BUI0|Q9HCJ4|Q9NSL6|Q9P0A9	Missense_Mutation	SNP	ENST00000342160.3	37	c.12365G>A	CCDS35301.1	.	.	.	.	.	.	.	.	.	.	C	16.11	3.029916	0.54790	.	.	ENSG00000086758	ENST00000342160;ENST00000262854	T;T	0.58940	0.3;0.3	5.62	5.62	0.85841	HECT (4);	0.000000	0.85682	D	0.000000	T	0.67050	0.2852	L	0.31420	0.93	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.72625	0.976;0.978	T	0.70389	-0.4885	10	0.87932	D	0	.	17.5681	0.87926	0.0:1.0:0.0:0.0	.	4122;4106	Q7Z6Z7;Q7Z6Z7-2	HUWE1_HUMAN;.	H	4122	ENSP00000340648:R4122H;ENSP00000262854:R4122H	ENSP00000262854:R4122H	R	-	2	0	HUWE1	53580126	1.000000	0.71417	1.000000	0.80357	0.768000	0.43524	7.232000	0.78116	2.506000	0.84524	0.594000	0.82650	CGT		0.493	HUWE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056766.1	XM_497119		13	48	0	0	0	1	0	13	48					T	53563401	C	T	53563401	3	4	404	1	0	0	0	0	1	0	0	0	7461	536	19	1	783	1	HUWE1	23	53563401	Missense_Mutation	SNP	C	TCGA-VN-A88O-01A-11D-A34U-08		53563401	101707159	54	19679											
VAV3	10451	broad.mit.edu	37	chr1	108417551	108417551	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtcacgaacatcaaacaagTcaaatgcctcgaaaagttca	18	7	6	10	2	4	0	4	0	0	0	5	2	4	0	1	0	3	1	1	0	6	1			TCGA-VN-A88P-01A-11D-A34U-08	TCGA-VN-A88P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4265c8-5f60-4f71-8ade-cb73044fa524	afbadcf2-d858-478b-adda-23f04631ad78	g.chr1:108417551T>A	ENST00000370056.4	-	2	567	c.293A>T	c.(292-294)gAc>gTc	p.D98V	VAV3_ENST00000371846.4_Missense_Mutation_p.D33V|VAV3_ENST00000527011.1_Missense_Mutation_p.D98V	NM_006113.4	NP_006104.4	Q9UKW4	VAV3_HUMAN	vav 3 guanine nucleotide exchange factor	98	CH. {ECO:0000255|PROSITE- ProRule:PRU00044}.				angiogenesis (GO:0001525)|apoptotic signaling pathway (GO:0097190)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|cellular response to DNA damage stimulus (GO:0006974)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|lamellipodium assembly (GO:0030032)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil chemotaxis (GO:0030593)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cell adhesion (GO:0045785)|positive regulation of GTPase activity (GO:0043547)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of signal transduction (GO:0009967)|regulation of Rac GTPase activity (GO:0032314)|regulation of small GTPase mediated signal transduction (GO:0051056)|response to drug (GO:0042493)|small GTPase mediated signal transduction (GO:0007264)|vesicle fusion (GO:0006906)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|SH3/SH2 adaptor activity (GO:0005070)			NS(2)|breast(5)|endometrium(4)|kidney(2)|large_intestine(14)|lung(20)|ovary(6)|prostate(3)|stomach(1)|urinary_tract(1)	58		all_epithelial(167;5.38e-05)|all_lung(203;0.000314)|Lung NSC(277;0.000594)		Colorectal(144;0.0331)|Lung(183;0.128)|Epithelial(280;0.204)		ATCAAACAAGTCAAATGCCTC	0.353																																						ENST00000370056.4																			0				NS(2)|breast(5)|endometrium(4)|kidney(2)|large_intestine(14)|lung(20)|ovary(6)|prostate(3)|stomach(1)|urinary_tract(1)	58						c.(292-294)gAc>gTc		vav 3 guanine nucleotide exchange factor							88	83	85					1																	108417551		2203	4300	6503	SO:0001583	missense	10451				angiogenesis|apoptosis|B cell receptor signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of B cell proliferation|regulation of Rho protein signal transduction|response to DNA damage stimulus|response to drug|small GTPase mediated signal transduction	cytosol	GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity	g.chr1:108417551T>A	AF118886	CCDS785.1, CCDS44181.1	1p13.3	2013-02-14	2007-07-25		ENSG00000134215	ENSG00000134215		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing", "SH2 domain containing"	12659	protein-coding gene	gene with protein product		605541	"vav 3 oncogene"				Standard	NM_001079874		Approved		uc001dvk.1	Q9UKW4	OTTHUMG00000010995	ENST00000370056.4:c.293A>T	1.37:g.108417551T>A	ENSP00000359073:p.Asp98Val					VAV3_ENST00000527011.1_Missense_Mutation_p.D98V|VAV3_ENST00000371846.4_Missense_Mutation_p.D33V	p.D98V	NM_006113.4	NP_006104.4	Q9UKW4	VAV3_HUMAN		Colorectal(144;0.0331)|Lung(183;0.128)|Epithelial(280;0.204)	2	567	-		all_epithelial(167;5.38e-05)|all_lung(203;0.000314)|Lung NSC(277;0.000594)	98			CH.		B1AMM0|B1APV5|B4E232|B7ZLR1|E9PQ97|O60498|O95230|Q9Y5X8	Missense_Mutation	SNP	ENST00000370056.4	37	c.293A>T	CCDS785.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	21.6|21.6	4.178063|4.178063	0.78564|0.78564	.|.	.|.	ENSG00000134215|ENSG00000134215	ENST00000370056;ENST00000527011;ENST00000371846|ENST00000490388	T;T;T|.	0.43294|.	0.95;0.95;0.95|.	6.08|6.08	6.08|6.08	0.98989|0.98989	Calponin homology domain (5);|.	0.216928|.	0.46758|.	D|.	0.000270|.	D|D	0.84597|0.84597	0.5507|0.5507	H|H	0.94306|0.94306	3.52|3.52	0.80722|0.80722	D|D	1|1	P;D;D|.	0.89917|.	0.707;0.988;1.0|.	D;D;D|.	0.91635|.	0.962;0.982;0.999|.	D|D	0.88953|0.88953	0.3388|0.3388	10|5	0.31617|.	T|.	0.26|.	.|.	15.4678|15.4678	0.75416|0.75416	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	98;98;98|.	B7ZLR1;E9PQ97;Q9UKW4|.	.;.;VAV3_HUMAN|.	V|S	98;98;33|93	ENSP00000359073:D98V;ENSP00000432540:D98V;ENSP00000360912:D33V|.	ENSP00000359073:D98V|.	D|T	-|-	2|1	0|0	VAV3|VAV3	108219074|108219074	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.972000|0.972000	0.66771|0.66771	7.508000|7.508000	0.81686|0.81686	2.333000|2.333000	0.79357|0.79357	0.533000|0.533000	0.62120|0.62120	GAC|ACT		0.353	VAV3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030242.2	NM_006113		20	30	0	0	0	1	0	20	30					A	108417551	T	A	108417551	3	1	405	1	0	0	0	0	1	0	0	0	17130	1667	58	5	2379	5	VAV3	1	108417551	Missense_Mutation	SNP	T	TCGA-VN-A88P-01A-11D-A34U-08		108417551	140833070	1	19680											
FLG	2312	broad.mit.edu	37	chr1	152282534	152282534	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctggaagccgactcagaccGcctctcagagtcttctgagt	8	10	10	13	2	5	3	2	1	4	2	6	5	5	4	3	1	1	0	3	1	1	1	rs560805546		TCGA-VN-A88P-01A-11D-A34U-08	TCGA-VN-A88P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4265c8-5f60-4f71-8ade-cb73044fa524	afbadcf2-d858-478b-adda-23f04631ad78	g.chr1:152282534G>A	ENST00000368799.1	-	3	4863	c.4828C>T	c.(4828-4830)Cgg>Tgg	p.R1610W	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1610	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GACTCAGACCGCCTCTCAGAG	0.572									Ichthyosis																													ENST00000368799.1																			0				autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424						c.(4828-4830)Cgg>Tgg		filaggrin							122	134	130					1																	152282534		2203	4300	6503	SO:0001583	missense	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152282534G>A	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"EF-hand domain containing"	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.4828C>T	1.37:g.152282534G>A	ENSP00000357789:p.Arg1610Trp					FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	p.R1610W	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	4863	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1610			Ser-rich.		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	c.4828C>T	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	G	2.678	-0.276111	0.05679	.	.	ENSG00000143631	ENST00000368799	T	0.01804	4.63	2.33	1.4	0.22301	.	.	.	.	.	T	0.00412	0.0013	N	0.11201	0.11	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.47045	-0.9147	9	0.56958	D	0.05	.	5.2441	0.15487	0.1716:0.0:0.8284:0.0	.	1610	P20930	FILA_HUMAN	W	1610	ENSP00000357789:R1610W	ENSP00000357789:R1610W	R	-	1	2	FLG	150549158	0.000000	0.05858	0.001000	0.08648	0.000000	0.00434	-0.151000	0.10175	0.532000	0.28657	-0.443000	0.05667	CGG		0.572	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		9	258	0	0	0	1	0	9	258					A	152282534	G	A	152282534	3	1	405	1	0	0	0	0	1	0	0	0	5922	1086	38	1	7361	1	FLG	1	152282534	Missense_Mutation	SNP	G	TCGA-VN-A88P-01A-11D-A34U-08	43864983	152282534	96968087	2	19681											
PRRX1	5396	broad.mit.edu	37	chr1	170699464	170699464	+	Intron	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tacacgaggggcttcataacGgattctaacggaagacactg	13	8	11	9	3	2	1	1	0	1	1	2	4	2	3	0	4	3	1	0	4	4	5	rs148536447		TCGA-VN-A88P-01A-11D-A34U-08	TCGA-VN-A88P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4265c8-5f60-4f71-8ade-cb73044fa524	afbadcf2-d858-478b-adda-23f04631ad78	g.chr1:170699464G>A	ENST00000239461.6	+	3	912				PRRX1_ENST00000476867.2_Intron|PRRX1_ENST00000367760.3_Missense_Mutation_p.G216R	NM_022716.2	NP_073207.1	P54821	PRRX1_HUMAN	paired related homeobox 1						artery morphogenesis (GO:0048844)|cartilage development (GO:0051216)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic limb morphogenesis (GO:0030326)|inner ear morphogenesis (GO:0042472)|middle ear morphogenesis (GO:0042474)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|palate development (GO:0060021)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of smoothened signaling pathway (GO:0045880)	nucleolus (GO:0005730)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)			large_intestine(2)|ovary(1)	3	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					GCTTCATAACGGATTCTAACG	0.453																																						ENST00000367760.3																			0				large_intestine(2)|ovary(1)	3						c.(646-648)Gga>Aga		paired related homeobox 1		G	ARG/GLY,	1,4405	2.1+/-5.4	0,1,2202	169	169	169		646,	5.7	1	1	dbSNP_134	169	0,8600		0,0,4300	no	missense,intron	PRRX1	NM_006902.3,NM_022716.2	125,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,	216/218,	170699464	1,13005	2203	4300	6503	SO:0001627	intron_variant	5396					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chr1:170699464G>A	M95929	CCDS1290.1, CCDS1291.1	1q24.3	2011-06-20	2003-11-12	2003-11-14	ENSG00000116132	ENSG00000116132		"Homeoboxes / PRD class"	9142	protein-coding gene	gene with protein product		167420	"paired mesoderm homeo box 1"	PMX1		1509260	Standard	NM_006902		Approved	PHOX1	uc001ghf.3	P54821	OTTHUMG00000035231	ENST00000239461.6:c.599+3922G>A	1.37:g.170699464G>A						PRRX1_ENST00000239461.6_Intron|PRRX1_ENST00000476867.2_Intron	p.G216R	NM_006902.3	NP_008833.1	P54821	PRRX1_HUMAN			4	1731	+	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)		0					B5BUM7|O60807	Missense_Mutation	SNP	ENST00000239461.6	37	c.646G>A	CCDS1290.1	.	.	.	.	.	.	.	.	.	.	G	18.14	3.557335	0.65425	2.27E-4	0.0	ENSG00000116132	ENST00000367760;ENST00000495280	D	0.92299	-3.01	5.67	5.67	0.87782	.	.	.	.	.	D	0.95245	0.8458	.	.	.	0.30000	N	0.816082	D	0.89917	1.0	D	0.87578	0.998	D	0.92454	0.5972	8	0.87932	D	0	.	16.4923	0.84205	0.0:0.0:1.0:0.0	.	216	P54821-2	.	R	216;61	ENSP00000356734:G216R	ENSP00000239461:G216R	G	+	1	0	PRRX1	168966088	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.353000	0.34045	2.677000	0.91161	0.655000	0.94253	GGA		0.453	PRRX1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085236.3	NM_006902		20	117	0	0	0	1	0	20	117					A	170699464	G	A	170699464	1	1	405	0	1	0	0	0	0	0	0	0	12612	1117	39	2		2	PRRX1	1	170699464	Intron	SNP	G	TCGA-VN-A88P-01A-11D-A34U-08	18416930	170699464	78551157	3	19682											
IL10	3586	broad.mit.edu	37	chr1	206944256	206944256	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctgatctgctacttacacagCgccgtagcctcagcctgagg	8	9	10	14	2	2	2	1	2	1	0	2	2	2	2	3	1	6	2	3	1	3	3	rs374619208		TCGA-VN-A88P-01A-11D-A34U-08	TCGA-VN-A88P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4265c8-5f60-4f71-8ade-cb73044fa524	afbadcf2-d858-478b-adda-23f04631ad78	g.chr1:206944256C>T	ENST00000423557.1	-	3	432	c.374G>A	c.(373-375)cGc>cAc	p.R125H	IL10_ENST00000471071.1_5'UTR	NM_000572.2	NP_000563.1	P22301	IL10_HUMAN	interleukin 10	125					B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|branching involved in labyrinthine layer morphogenesis (GO:0060670)|cell-cell signaling (GO:0007267)|cellular response to estradiol stimulus (GO:0071392)|cellular response to lipopolysaccharide (GO:0071222)|cytoplasmic sequestering of NF-kappaB (GO:0007253)|defense response to bacterium (GO:0042742)|hemopoiesis (GO:0030097)|inflammatory response (GO:0006954)|leukocyte chemotaxis (GO:0030595)|negative regulation of apoptotic process (GO:0043066)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of chronic inflammatory response to antigenic stimulus (GO:0002875)|negative regulation of cytokine secretion involved in immune response (GO:0002740)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of interferon-alpha biosynthetic process (GO:0045355)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of membrane protein ectodomain proteolysis (GO:0051045)|negative regulation of MHC class II biosynthetic process (GO:0045347)|negative regulation of myeloid dendritic cell activation (GO:0030886)|negative regulation of nitric oxide biosynthetic process (GO:0045019)|negative regulation of T cell proliferation (GO:0042130)|negative regulation of tumor necrosis factor biosynthetic process (GO:0042536)|negative regulation of tumor necrosis factor production (GO:0032720)|positive regulation of B cell apoptotic process (GO:0002904)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of MHC class II biosynthetic process (GO:0045348)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|receptor biosynthetic process (GO:0032800)|regulation of gene expression (GO:0010468)|regulation of isotype switching (GO:0045191)|regulation of sensory perception of pain (GO:0051930)|response to activity (GO:0014823)|response to carbon monoxide (GO:0034465)|response to drug (GO:0042493)|response to glucocorticoid (GO:0051384)|response to inactivity (GO:0014854)|response to insulin (GO:0032868)|response to molecule of bacterial origin (GO:0002237)|type 2 immune response (GO:0042092)	extracellular space (GO:0005615)	cytokine activity (GO:0005125)|growth factor activity (GO:0008083)|interleukin-10 receptor binding (GO:0005141)			endometrium(1)|large_intestine(6)|lung(4)|prostate(1)	12	Breast(84;0.183)		BRCA - Breast invasive adenocarcinoma(75;0.211)			ACTTACACAGCGCCGTAGCCT	0.547																																						ENST00000423557.1																			0				endometrium(1)|large_intestine(6)|lung(4)|prostate(1)	12						c.(373-375)cGc>cAc		interleukin 10		C	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	124	120	121		374	5.1	1	1		121	0,8600		0,0,4300	no	missense	IL10	NM_000572.2	29	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign	125/179	206944256	1,13005	2203	4300	6503	SO:0001583	missense	3586				anti-apoptosis|B cell differentiation|B cell proliferation|cytoplasmic sequestering of NF-kappaB|inflammatory response|leukocyte chemotaxis|negative regulation of B cell proliferation|negative regulation of cytokine secretion involved in immune response|negative regulation of interferon-alpha biosynthetic process|negative regulation of interleukin-6 production|negative regulation of membrane protein ectodomain proteolysis|negative regulation of MHC class II biosynthetic process|negative regulation of T cell proliferation|positive regulation of B cell apoptosis|positive regulation of cytokine secretion|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|receptor biosynthetic process|regulation of isotype switching|response to glucocorticoid stimulus|type 2 immune response	extracellular space	cytokine activity|growth factor activity|interleukin-10 receptor binding	g.chr1:206944256C>T	M57627	CCDS1467.1	1q31-q32	2011-07-14			ENSG00000136634	ENSG00000136634		"Interleukins and interleukin receptors"	5962	protein-coding gene	gene with protein product	"cytokine synthesis inhibitory factor", "T-cell growth inhibitory factor"	124092				9162098	Standard	NM_000572		Approved	CSIF, TGIF, IL10A, IL-10	uc001hen.1	P22301	OTTHUMG00000036386	ENST00000423557.1:c.374G>A	1.37:g.206944256C>T	ENSP00000412237:p.Arg125His					IL10_ENST00000471071.1_5'UTR	p.R125H	NM_000572.2	NP_000563.1	P22301	IL10_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.211)		3	432	-	Breast(84;0.183)		125						Missense_Mutation	SNP	ENST00000423557.1	37	c.374G>A	CCDS1467.1	.	.	.	.	.	.	.	.	.	.	C	15.65	2.895836	0.52121	2.27E-4	0.0	ENSG00000136634	ENST00000423557	T	0.72167	-0.63	5.99	5.05	0.67936	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	0.412949	0.29493	N	0.011992	T	0.73281	0.3567	M	0.90252	3.1	0.49051	D	0.999748	P	0.51791	0.948	B	0.39771	0.309	T	0.78718	-0.2095	10	0.72032	D	0.01	-16.6157	9.8117	0.40826	0.0:0.9005:0.0:0.0995	.	125	P22301	IL10_HUMAN	H	125	ENSP00000412237:R125H	ENSP00000412237:R125H	R	-	2	0	IL10	205010879	1.000000	0.71417	0.998000	0.56505	0.642000	0.38348	1.362000	0.34148	1.456000	0.47831	0.655000	0.94253	CGC		0.547	IL10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088564.3	NM_000572		22	33	0	0	0	1	0	22	33					T	206944256	C	T	206944256	3	4	405	1	0	0	0	0	1	0	0	0	7619	768	27	1	174	1	IL10	1	206944256	Missense_Mutation	SNP	C	TCGA-VN-A88P-01A-11D-A34U-08	36244792	206944256	42306365	4	19683											
PLEKHH2	130271	broad.mit.edu	37	chr2	43926933	43926933	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tggtggcatctcccagaattCtggggctcctgtgagtgact	6	12	13	10	0	2	3	0	2	2	1	4	3	3	3	2	4	0	2	2	4	1	1			TCGA-VN-A88P-01A-11D-A34U-08	TCGA-VN-A88P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4265c8-5f60-4f71-8ade-cb73044fa524	afbadcf2-d858-478b-adda-23f04631ad78	g.chr2:43926933C>T	ENST00000282406.4	+	8	946	c.836C>T	c.(835-837)tCt>tTt	p.S279F		NM_172069.3	NP_742066.2	Q8IVE3	PKHH2_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 2	279					negative regulation of actin filament depolymerization (GO:0030835)	cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)	actin binding (GO:0003779)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(24)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	56		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				TCCCAGAATTCTGGGGCTCCT	0.512																																						ENST00000282406.4																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(24)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						c.(835-837)tCt>tTt		pleckstrin homology domain containing, family H (with MyTH4 domain) member 2							72	75	74					2																	43926933		2203	4300	6503	SO:0001583	missense	130271					cytoplasm|cytoskeleton|integral to membrane	binding	g.chr2:43926933C>T	AB095948	CCDS1812.1	2p22	2013-01-10			ENSG00000152527	ENSG00000152527		"Pleckstrin homology (PH) domain containing"	30506	protein-coding gene	gene with protein product		612723					Standard	NM_172069		Approved	KIAA2028, PLEKHH1L	uc010yny.2	Q8IVE3	OTTHUMG00000128657	ENST00000282406.4:c.836C>T	2.37:g.43926933C>T	ENSP00000282406:p.Ser279Phe						p.S279F	NM_172069.3	NP_742066.2	Q8IVE3	PKHH2_HUMAN			8	946	+		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	279					Q5JPJ6|Q6P4Q1|Q8N3Q3	Missense_Mutation	SNP	ENST00000282406.4	37	c.836C>T	CCDS1812.1	.	.	.	.	.	.	.	.	.	.	C	14.40	2.524631	0.44969	.	.	ENSG00000152527	ENST00000282406	T	0.74209	-0.82	5.84	4.96	0.65561	.	0.380726	0.28659	N	0.014561	T	0.73202	0.3557	N	0.19112	0.55	0.32855	D	0.507198	P;D	0.65815	0.578;0.995	B;P	0.58172	0.181;0.834	T	0.81102	-0.1085	10	0.72032	D	0.01	-7.4682	13.4234	0.61011	0.0:0.9272:0.0:0.0728	.	279;279	Q8IVE3;Q8IVE3-3	PKHH2_HUMAN;.	F	279	ENSP00000282406:S279F	ENSP00000282406:S279F	S	+	2	0	PLEKHH2	43780437	0.997000	0.39634	0.150000	0.22450	0.607000	0.37147	3.320000	0.51991	1.477000	0.48234	-0.150000	0.13652	TCT		0.512	PLEKHH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250537.1	NM_172069		15	56	0	0	0	1	0	15	56					T	43926933	C	T	43926933	3	4	405	1	0	0	0	0	1	0	0	0	12077	913	32	3	862	3	PLEKHH2	2	43926933	Missense_Mutation	SNP	C	TCGA-VN-A88P-01A-11D-A34U-08		43926933	199272440	5	19684											
CNTNAP5	129684	broad.mit.edu	37	chr2	125192103	125192103	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tggccgaagctcacttctgtAcaggttcaatcagaagttga	11	11	10	9	1	4	2	3	1	1	1	4	3	4	2	1	2	2	4	1	2	4	4			TCGA-VN-A88P-01A-11D-A34U-08	TCGA-VN-A88P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4265c8-5f60-4f71-8ade-cb73044fa524	afbadcf2-d858-478b-adda-23f04631ad78	g.chr2:125192103A>G	ENST00000431078.1	+	5	936	c.572A>G	c.(571-573)tAc>tGc	p.Y191C		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	191	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		TCACTTCTGTACAGGTTCAAT	0.448																																						ENST00000431078.1																			0				NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176						c.(571-573)tAc>tGc		contactin associated protein-like 5							133	123	126					2																	125192103		1956	4161	6117	SO:0001583	missense	129684				cell adhesion|signal transduction	integral to membrane	receptor binding	g.chr2:125192103A>G	AB077881	CCDS46401.1	2q14.1	2008-02-05			ENSG00000155052	ENSG00000155052			18748	protein-coding gene	gene with protein product		610519					Standard	NM_130773		Approved	caspr5, FLJ31966	uc002tno.3	Q8WYK1	OTTHUMG00000153356	ENST00000431078.1:c.572A>G	2.37:g.125192103A>G	ENSP00000399013:p.Tyr191Cys						p.Y191C	NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.248)	5	936	+			191			Laminin G-like 1.		Q4ZFW2|Q4ZG21|Q53R09|Q53RX1|Q53SG3|Q584P3|Q96MS7	Missense_Mutation	SNP	ENST00000431078.1	37	c.572A>G	CCDS46401.1	.	.	.	.	.	.	.	.	.	.	A	18.90	3.721776	0.68959	.	.	ENSG00000155052	ENST00000431078	T	0.80824	-1.42	5.48	5.48	0.80851	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (1);	0.000000	0.43416	D	0.000561	D	0.90683	0.7077	M	0.92169	3.28	0.58432	D	0.999995	D	0.71674	0.998	P	0.60173	0.87	D	0.92933	0.6365	10	0.87932	D	0	.	14.7735	0.69699	1.0:0.0:0.0:0.0	.	191	Q8WYK1	CNTP5_HUMAN	C	191	ENSP00000399013:Y191C	ENSP00000399013:Y191C	Y	+	2	0	CNTNAP5	124908573	1.000000	0.71417	0.999000	0.59377	0.941000	0.58515	7.163000	0.77524	2.084000	0.62774	0.533000	0.62120	TAC		0.448	CNTNAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330864.3			13	63	0	0	0	1	0	13	63					G	125192103	A	G	125192103	3	3	405	1	0	0	0	0	1	0	0	0	3650	391	14	4	590	4	CNTNAP5	2	125192103	Missense_Mutation	SNP	A	TCGA-VN-A88P-01A-11D-A34U-08	81265170	125192103	118007270	6	19685											
FAM123C	205147	broad.mit.edu	37	chr2	131520257	131520257	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agcaaagccttcctccccccGggtgaggggccggggctgga	6	5	16	14	2	0	1	0	1	0	0	2	2	2	2	6	6	2	2	6	6	1	1	rs534079166	byFrequency	TCGA-VN-A88P-01A-11D-A34U-08	TCGA-VN-A88P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4265c8-5f60-4f71-8ade-cb73044fa524	afbadcf2-d858-478b-adda-23f04631ad78	g.chr2:131520257G>T	ENST00000423981.1	+	2	722	c.612G>T	c.(610-612)ccG>ccT	p.P204P	AMER3_ENST00000321420.4_Silent_p.P204P	NM_001105193.1|NM_001105194.1|NM_001105195.1|NM_152698.2	NP_001098663.1|NP_001098664.1|NP_001098665.1|NP_689911.2	Q8N944	AMER3_HUMAN	APC membrane recruitment protein 3	204					Wnt signaling pathway (GO:0016055)	plasma membrane (GO:0005886)	lipid binding (GO:0008289)										TCCTCCCCCCGGGTGAGGGGC	0.701																																						ENST00000423981.1																			0											c.(610-612)ccG>ccT		APC membrane recruitment protein 3							23	30	27					2																	131520257		2189	4281	6470	SO:0001819	synonymous_variant	205147							g.chr2:131520257G>T	AK095696	CCDS2164.1	2q21.1	2012-12-03	2012-12-03	2012-12-03	ENSG00000178171	ENSG00000178171		"-"	26771	protein-coding gene	gene with protein product			"family with sequence similarity 123C"	FAM123C		20843316	Standard	NM_001105195		Approved	FLJ38377	uc002trw.2	Q8N944	OTTHUMG00000131637	ENST00000423981.1:c.612G>T	2.37:g.131520257G>T						AMER3_ENST00000321420.4_Silent_p.P204P	p.P204P	NM_001105193.1|NM_001105194.1|NM_001105195.1|NM_152698.2	NP_001098663.1|NP_001098664.1|NP_001098665.1|NP_689911.2					2	722	+								B7ZLH6	Silent	SNP	ENST00000423981.1	37	c.612G>T	CCDS2164.1																																																																																				0.701	AMER3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254531.3	NM_152698		16	31	1	0	1.5739e-10	1	1.71277e-10	16	31					T	131520257	G	T	131520257	2	4	405	1	0	0	0	0	0	0	0	1	5424	1103	39	5		5	FAM123C	2	131520257	Silent	SNP	G	TCGA-VN-A88P-01A-11D-A34U-08	6328154	131520257	111679116	7	19686											
RAPGEF4	11069	broad.mit.edu	37	chr2	173832003	173832003	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatagtggaccaggagcacCatttccaagacaaatattta	15	9	7	10	0	0	1	0	0	0	1	1	3	1	3	4	2	1	1	4	2	5	5			TCGA-VN-A88P-01A-11D-A34U-08	TCGA-VN-A88P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4265c8-5f60-4f71-8ade-cb73044fa524	afbadcf2-d858-478b-adda-23f04631ad78	g.chr2:173832003C>T	ENST00000397081.3	+	10	978	c.835C>T	c.(835-837)Cat>Tat	p.H279Y	RAPGEF4_ENST00000538974.1_Missense_Mutation_p.H108Y|RAPGEF4_ENST00000397087.3_Missense_Mutation_p.H135Y|RAPGEF4_ENST00000540783.1_Missense_Mutation_p.H126Y|RAPGEF4_ENST00000264111.6_Missense_Mutation_p.H278Y|RAPGEF4_ENST00000409036.1_Missense_Mutation_p.H279Y|RAPGEF4_ENST00000535187.1_Missense_Mutation_p.H59Y|RAPGEF4_ENST00000539331.1_Missense_Mutation_p.H126Y|RAPGEF4_ENST00000473043.1_3'UTR	NM_007023.3	NP_008954.2	Q8WZA2	RPGF4_HUMAN	Rap guanine nucleotide exchange factor (GEF) 4	279	DEP. {ECO:0000255|PROSITE- ProRule:PRU00066}.				blood coagulation (GO:0007596)|calcium ion-dependent exocytosis (GO:0017156)|cAMP-mediated signaling (GO:0019933)|energy reserve metabolic process (GO:0006112)|G-protein coupled receptor signaling pathway (GO:0007186)|insulin secretion (GO:0030073)|platelet activation (GO:0030168)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Ras GTPase activity (GO:0032320)|regulation of exocytosis (GO:0017157)|regulation of insulin secretion (GO:0050796)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	cAMP-dependent protein kinase complex (GO:0005952)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|cAMP-dependent protein kinase regulator activity (GO:0008603)|guanyl-nucleotide exchange factor activity (GO:0005085)|Ras GTPase binding (GO:0017016)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(14)|lung(13)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	47			OV - Ovarian serous cystadenocarcinoma(117;0.194)			CCAGGAGCACCATTTCCAAGA	0.493																																						ENST00000264111.6																			0				breast(1)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(14)|lung(13)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						c.(832-834)Cat>Tat		Rap guanine nucleotide exchange factor (GEF) 4							42	44	44					2																	173832003		2056	4219	6275	SO:0001583	missense	11069				blood coagulation|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|regulation of insulin secretion|regulation of protein phosphorylation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cAMP-dependent protein kinase complex|membrane fraction|plasma membrane	cAMP binding|cAMP-dependent protein kinase regulator activity|Ras GTPase binding|Ras guanyl-nucleotide exchange factor activity	g.chr2:173832003C>T	U78516	CCDS42775.1, CCDS42776.1, CCDS63060.1, CCDS63061.1, CCDS74604.1	2q31-q32	2008-02-05	2004-03-26		ENSG00000091428	ENSG00000091428			16626	protein-coding gene	gene with protein product	"cAMP-regulated guanine nucleotide exchange factor II", " exchange protein directly activated by cAMP 2"	606058	"RAP guanine-nucleotide-exchange factor (GEF) 4"			10777494, 9856955	Standard	NM_007023		Approved	cAMP-GEFII, CGEF2	uc002uhv.4	Q8WZA2	OTTHUMG00000133677	ENST00000397081.3:c.835C>T	2.37:g.173832003C>T	ENSP00000380271:p.His279Tyr					RAPGEF4_ENST00000538974.1_Missense_Mutation_p.H108Y|RAPGEF4_ENST00000535187.1_Missense_Mutation_p.H59Y|RAPGEF4_ENST00000540783.1_Missense_Mutation_p.H126Y|RAPGEF4_ENST00000539331.1_Missense_Mutation_p.H126Y|RAPGEF4_ENST00000397081.3_Missense_Mutation_p.H279Y|RAPGEF4_ENST00000397087.3_Missense_Mutation_p.H135Y|RAPGEF4_ENST00000473043.1_3'UTR|RAPGEF4_ENST00000409036.1_Missense_Mutation_p.H279Y	p.H278Y			Q8WZA2	RPGF4_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.194)		10	1019	+			279			DEP.		B2R7R3|B7Z283|B7Z3T6|B7Z912|O95636|Q8IXK6|Q8TAA4	Missense_Mutation	SNP	ENST00000397081.3	37	c.832C>T	CCDS42775.1	.	.	.	.	.	.	.	.	.	.	C	4.355	0.065363	0.08388	.	.	ENSG00000091428	ENST00000264111;ENST00000397081;ENST00000409036;ENST00000397087;ENST00000538974;ENST00000540783;ENST00000539331;ENST00000539767;ENST00000535187	T;T;T;T;T;T;T;T	0.20738	2.05;2.05;2.05;2.05;2.05;2.05;2.05;2.05	5.31	3.5	0.40072	DEP domain (3);Winged helix-turn-helix transcription repressor DNA-binding (1);	0.311884	0.40302	N	0.001133	T	0.10551	0.0258	N	0.25144	0.715	0.37428	D	0.913924	B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0	B;B;B;B;B	0.06405	0.002;0.001;0.001;0.001;0.001	T	0.14811	-1.0459	10	0.02654	T	1	.	8.3653	0.32382	0.0:0.7657:0.0:0.2343	.	106;108;135;279;279	B7Z805;B7Z2R0;Q8WZA2-3;Q8WZA2;E9PB94	.;.;.;RPGF4_HUMAN;.	Y	278;279;279;135;108;126;126;106;59	ENSP00000264111:H278Y;ENSP00000380271:H279Y;ENSP00000387104:H279Y;ENSP00000380276:H135Y;ENSP00000440135:H108Y;ENSP00000440250:H126Y;ENSP00000437384:H126Y;ENSP00000438011:H59Y	ENSP00000264111:H278Y	H	+	1	0	RAPGEF4	173540249	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.233000	0.32648	1.235000	0.43724	0.561000	0.74099	CAT		0.493	RAPGEF4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257864.2	NM_007023		7	13	0	0	0	1	0	7	13					T	173832003	C	T	173832003	3	4	405	1	0	0	0	0	1	0	0	0	13046	594	21	3	889	3	RAPGEF4	2	173832003	Missense_Mutation	SNP	C	TCGA-VN-A88P-01A-11D-A34U-08	42311746	173832003	69367370	8	19687											
NUP210	23225	broad.mit.edu	37	chr3	13381788	13381788	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcctgggcatcagcctgaacGggggaaagacctgttgagag	10	7	15	9	1	1	3	1	2	0	2	2	5	2	4	3	3	2	2	3	3	2	1			TCGA-VN-A88P-01A-11D-A34U-08	TCGA-VN-A88P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4265c8-5f60-4f71-8ade-cb73044fa524	afbadcf2-d858-478b-adda-23f04631ad78	g.chr3:13381788G>A	ENST00000254508.5	-	24	3321	c.3239C>T	c.(3238-3240)cCg>cTg	p.P1080L	NUP210_ENST00000485755.1_Intron	NM_024923.2	NP_079199.2	Q8TEM1	PO210_HUMAN	nucleoporin 210kDa	1080					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)				NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	66	all_neural(104;0.187)					CAGCCTGAACGGGGGAAAGAC	0.577																																						ENST00000254508.5																			0				NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	66						c.(3238-3240)cCg>cTg		nucleoporin 210kDa							51	47	49					3																	13381788		2203	4300	6503	SO:0001583	missense	23225				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore		g.chr3:13381788G>A	AB020713	CCDS33704.1	3p25	2008-02-05			ENSG00000132182	ENSG00000132182			30052	protein-coding gene	gene with protein product		607703				2184032, 7504063	Standard	NM_024923		Approved	GP210, POM210, FLJ22389, KIAA0906	uc003bxv.1	Q8TEM1	OTTHUMG00000157268	ENST00000254508.5:c.3239C>T	3.37:g.13381788G>A	ENSP00000254508:p.Pro1080Leu					NUP210_ENST00000485755.1_Intron	p.P1080L	NM_024923.2	NP_079199.2	Q8TEM1	PO210_HUMAN			24	3321	-	all_neural(104;0.187)		1080					A6NN56|O94980|Q6NXG6|Q8NBJ1|Q9H6C8|Q9UFP3	Missense_Mutation	SNP	ENST00000254508.5	37	c.3239C>T	CCDS33704.1	.	.	.	.	.	.	.	.	.	.	G	18.64	3.666934	0.67814	.	.	ENSG00000132182	ENST00000254508	T	0.44881	0.91	5.43	5.43	0.79202	Bacterial Ig-like, group 2 (1);	0.000000	0.85682	D	0.000000	T	0.70684	0.3252	M	0.87547	2.89	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.76266	-0.3022	10	0.87932	D	0	-17.1935	18.2463	0.89986	0.0:0.0:1.0:0.0	.	1080	Q8TEM1	PO210_HUMAN	L	1080	ENSP00000254508:P1080L	ENSP00000254508:P1080L	P	-	2	0	NUP210	13356788	1.000000	0.71417	0.941000	0.38009	0.137000	0.21094	9.048000	0.93830	2.547000	0.85894	0.655000	0.94253	CCG		0.577	NUP210-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340085.1	NM_024923		16	23	0	0	0	1	0	16	23					A	13381788	G	A	13381788	3	1	405	1	0	0	0	0	1	0	0	0	10760	1116	39	2	2492	2	NUP210	3	13381788	Missense_Mutation	SNP	G	TCGA-VN-A88P-01A-11D-A34U-08		13381788	184640642	9	19688											
TMF1	7110	broad.mit.edu	37	chr3	69087802	69087802	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttctttagctttcatttcAcggctcagagcagcttcctg	6	16	7	12	1	5	1	3	0	2	1	6	1	6	1	1	1	3	4	1	1	1	6			TCGA-VN-A88P-01A-11D-A34U-08	TCGA-VN-A88P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4265c8-5f60-4f71-8ade-cb73044fa524	afbadcf2-d858-478b-adda-23f04631ad78	g.chr3:69087802A>C	ENST00000398559.2	-	8	2280	c.2064T>G	c.(2062-2064)cgT>cgG	p.R688R	CTD-2013N24.2_ENST00000596274.1_RNA|CTD-2013N24.2_ENST00000596732.1_RNA|CTD-2013N24.2_ENST00000596523.1_RNA|CTD-2013N24.2_ENST00000482368.2_RNA|CTD-2013N24.2_ENST00000597950.1_RNA|CTD-2013N24.2_ENST00000598783.1_RNA|CTD-2013N24.2_ENST00000595925.1_RNA|TMF1_ENST00000543976.1_Silent_p.R691R|CTD-2013N24.2_ENST00000601735.1_RNA			P82094	TMF1_HUMAN	TATA element modulatory factor 1	688					acrosome assembly (GO:0001675)|cellular response to organic cyclic compound (GO:0071407)|defense response to bacterium (GO:0042742)|Leydig cell differentiation (GO:0033327)|luteinizing hormone secretion (GO:0032275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of gene expression (GO:0010629)|positive regulation of cytokine production (GO:0001819)|positive regulation of testosterone secretion (GO:2000845)|regulation of proteasomal protein catabolic process (GO:0061136)|regulation of transcription, DNA-templated (GO:0006355)|sperm motility (GO:0030317)|spermatid nucleus differentiation (GO:0007289)|transcription from RNA polymerase II promoter (GO:0006366)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|transcription cofactor activity (GO:0003712)			cervix(1)|kidney(1)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22		Lung NSC(201;0.0193)|Prostate(884;0.174)		BRCA - Breast invasive adenocarcinoma(55;4.48e-05)|Epithelial(33;0.000274)|LUSC - Lung squamous cell carcinoma(21;0.0123)|KIRC - Kidney renal clear cell carcinoma(39;0.211)|Kidney(39;0.247)		CTTTCATTTCACGGCTCAGAG	0.403																																						ENST00000543976.1																			0				cervix(1)|kidney(1)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						c.(2071-2073)cgT>cgG		TATA element modulatory factor 1							137	124	128					3																	69087802		1885	4114	5999	SO:0001819	synonymous_variant	7110				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Golgi membrane|nucleus	DNA binding|protein binding|transcription cofactor activity	g.chr3:69087802A>C		CCDS43105.1	3p21-p12	2009-02-11			ENSG00000144747	ENSG00000144747			11870	protein-coding gene	gene with protein product		601126				1409643	Standard	NM_007114		Approved	ARA160, TMF	uc003dnn.3	P82094	OTTHUMG00000158771	ENST00000398559.2:c.2064T>G	3.37:g.69087802A>C						CTD-2013N24.2_ENST00000597950.1_RNA|CTD-2013N24.2_ENST00000596732.1_RNA|CTD-2013N24.2_ENST00000482368.2_RNA|CTD-2013N24.2_ENST00000601735.1_RNA|CTD-2013N24.2_ENST00000598783.1_RNA|TMF1_ENST00000398559.2_Silent_p.R688R|CTD-2013N24.2_ENST00000595925.1_RNA|CTD-2013N24.2_ENST00000596523.1_RNA|CTD-2013N24.2_ENST00000596274.1_RNA	p.R691R	NM_007114.2	NP_009045.2	P82094	TMF1_HUMAN		BRCA - Breast invasive adenocarcinoma(55;4.48e-05)|Epithelial(33;0.000274)|LUSC - Lung squamous cell carcinoma(21;0.0123)|KIRC - Kidney renal clear cell carcinoma(39;0.211)|Kidney(39;0.247)	8	2319	-		Lung NSC(201;0.0193)|Prostate(884;0.174)	688					B7ZLJ2|Q17R87|Q59GK0	Silent	SNP	ENST00000398559.2	37	c.2073T>G	CCDS43105.1																																																																																				0.403	TMF1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000352106.1	NM_007114		52	64	0	0	0	1	0	52	64					C	69087802	A	C	69087802	2	2	405	1	0	0	0	0	0	0	0	1	16225	146	6	5		5	TMF1	3	69087802	Silent	SNP	A	TCGA-VN-A88P-01A-11D-A34U-08	55706014	69087802	128934628	10	19689											
PDZRN3	23024	broad.mit.edu	37	chr3	73657756	73657756	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtaattaacataccacactcGgccggccaccaataatattg	14	9	6	12	2	0	0	0	0	0	0	1	0	0	0	4	2	2	1	4	2	6	6	rs144715916		TCGA-VN-A88P-01A-11D-A34U-08	TCGA-VN-A88P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4265c8-5f60-4f71-8ade-cb73044fa524	afbadcf2-d858-478b-adda-23f04631ad78	g.chr3:73657756G>A	ENST00000263666.4	-	2	917	c.803C>T	c.(802-804)cCg>cTg	p.P268L	PDZRN3_ENST00000308537.4_Missense_Mutation_p.P268L	NM_015009.1	NP_055824.1	Q9UPQ7	PZRN3_HUMAN	PDZ domain containing ring finger 3	268	PDZ 1. {ECO:0000255|PROSITE- ProRule:PRU00143}.				neuromuscular junction development (GO:0007528)|protein ubiquitination (GO:0016567)	neuromuscular junction (GO:0031594)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)		TACCACACTCGGCCGGCCACC	0.473																																						ENST00000263666.4																			0				breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69						c.(802-804)cCg>cTg		PDZ domain containing ring finger 3		G	LEU/PRO	1,4405	2.1+/-5.4	0,1,2202	52	53	52		803	5.4	1	3	dbSNP_134	52	0,8600		0,0,4300	no	missense	PDZRN3	NM_015009.1	98	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	possibly-damaging	268/1067	73657756	1,13005	2203	4300	6503	SO:0001583	missense	23024						ubiquitin-protein ligase activity|zinc ion binding	g.chr3:73657756G>A	AB029018	CCDS33789.1	3p14.1	2013-01-09	2008-08-14		ENSG00000121440	ENSG00000121440		"RING-type (C3HC4) zinc fingers"	17704	protein-coding gene	gene with protein product	"likely ortholog of mouse semaF cytoplasmic domain associated protein 3"	609729				10470851	Standard	XM_005264718		Approved	KIAA1095, SEMACAP3, LNX3	uc003dpl.1	Q9UPQ7	OTTHUMG00000158865	ENST00000263666.4:c.803C>T	3.37:g.73657756G>A	ENSP00000263666:p.Pro268Leu					PDZRN3_ENST00000308537.4_Missense_Mutation_p.P268L	p.P268L	NM_015009.1	NP_055824.1	Q9UPQ7	PZRN3_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)	2	917	-		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)	268			PDZ 1.		A7MCZ6|Q8N2N7|Q96CC2|Q9NSQ2	Missense_Mutation	SNP	ENST00000263666.4	37	c.803C>T	CCDS33789.1	.	.	.	.	.	.	.	.	.	.	G	19.37	3.815456	0.70912	2.27E-4	0.0	ENSG00000121440	ENST00000263666;ENST00000416926;ENST00000308537	T;T	0.27256	1.68;1.68	5.42	5.42	0.78866	PDZ/DHR/GLGF (4);	1.000930	0.08059	N	0.997869	T	0.42404	0.1201	L	0.42487	1.325	0.80722	D	1	D	0.76494	0.999	P	0.61477	0.889	T	0.22591	-1.0212	10	0.08179	T	0.78	.	19.2259	0.93817	0.0:0.0:1.0:0.0	.	268	Q9UPQ7	PZRN3_HUMAN	L	268	ENSP00000263666:P268L;ENSP00000308831:P268L	ENSP00000263666:P268L	P	-	2	0	PDZRN3	73740446	1.000000	0.71417	0.952000	0.39060	0.916000	0.54674	8.131000	0.89601	2.508000	0.84585	0.655000	0.94253	CCG		0.473	PDZRN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352460.1	XM_041363		6	12	0	0	0	1	0	6	12					A	73657756	G	A	73657756	3	1	405	1	0	0	0	0	1	0	0	0	11709	1116	39	2	2433	2	PDZRN3	3	73657756	Missense_Mutation	SNP	G	TCGA-VN-A88P-01A-11D-A34U-08	4569954	73657756	124364674	11	19690											
ZBTB20	26137	broad.mit.edu	37	chr3	114069639	114069639	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ttctctccggagaggaagcaCctgtttctagctggtttgtc	6	14	11	10	1	2	1	0	0	2	1	5	3	3	2	2	3	2	4	2	3	2	4	rs532683480		TCGA-VN-A88P-01A-11D-A34U-08	TCGA-VN-A88P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4265c8-5f60-4f71-8ade-cb73044fa524	afbadcf2-d858-478b-adda-23f04631ad78	g.chr3:114069639C>A	ENST00000474710.1	-	4	1464	c.1286G>T	c.(1285-1287)gGt>gTt	p.G429V	ZBTB20_ENST00000462705.1_Missense_Mutation_p.G356V|ZBTB20-AS1_ENST00000475939.1_RNA|ZBTB20_ENST00000471418.1_Missense_Mutation_p.G356V|ZBTB20_ENST00000357258.3_Missense_Mutation_p.G356V|ZBTB20_ENST00000464560.1_Missense_Mutation_p.G356V|ZBTB20-AS1_ENST00000467304.1_RNA|ZBTB20-AS1_ENST00000496219.1_RNA|ZBTB20_ENST00000481632.1_Missense_Mutation_p.G356V|ZBTB20_ENST00000393785.2_Missense_Mutation_p.G356V	NM_001164342.1	NP_001157814.1	Q9HC78	ZBT20_HUMAN	zinc finger and BTB domain containing 20	429						nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)			breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48				LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)		AGAGGAAGCACCTGTTTCTAG	0.607													C|||	1	0.000199681	0	0	5008	,	,		20791	0		0	False		,,,				2504	0.001				NSCLC(69;748 1344 9802 11203 30933)	ENST00000462705.1																			0				breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48						c.(1066-1068)gGt>gTt		zinc finger and BTB domain containing 20							69	69	69					3																	114069639		2203	4300	6503	SO:0001583	missense	26137				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr3:114069639C>A	AF139460	CCDS2981.1, CCDS54626.1	3q13.2	2013-01-08	2004-07-16	2004-07-16	ENSG00000181722	ENSG00000181722		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	13503	protein-coding gene	gene with protein product		606025	"zinc finger protein 288"	ZNF288		10965110, 11352661	Standard	XM_005247339		Approved	ODA-8S, DKFZp566F123, DPZF	uc003ebi.3	Q9HC78	OTTHUMG00000159366	ENST00000474710.1:c.1286G>T	3.37:g.114069639C>A	ENSP00000419153:p.Gly429Val					ZBTB20_ENST00000471418.1_Missense_Mutation_p.G356V|ZBTB20_ENST00000464560.1_Missense_Mutation_p.G356V|ZBTB20_ENST00000357258.3_Missense_Mutation_p.G356V|ZBTB20_ENST00000481632.1_Missense_Mutation_p.G356V|ZBTB20_ENST00000393785.2_Missense_Mutation_p.G356V|ZBTB20_ENST00000474710.1_Missense_Mutation_p.G429V	p.G356V	NM_001164343.1	NP_001157815.1	Q9HC78	ZBT20_HUMAN		LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)	11	1888	-			429					Q63HP6|Q8N6R5|Q9Y410	Missense_Mutation	SNP	ENST00000474710.1	37	c.1067G>T	CCDS54626.1	.	.	.	.	.	.	.	.	.	.	C	10.53	1.376050	0.24857	.	.	ENSG00000181722	ENST00000462705;ENST00000393785;ENST00000481632;ENST00000471418;ENST00000474710;ENST00000357258;ENST00000464560	T;T;T;T;T;T;T	0.09255	3.01;3.01;3.01;3.01;3.0;3.01;3.01	5.43	4.36	0.52297	.	0.178314	0.48767	D	0.000171	T	0.07007	0.0178	N	0.14661	0.345	0.52501	D	0.999951	B	0.17667	0.023	B	0.17979	0.02	T	0.16188	-1.0411	10	0.72032	D	0.01	.	9.768	0.40572	0.0:0.8405:0.0:0.1595	.	429	Q9HC78	ZBT20_HUMAN	V	356;356;356;356;429;356;356	ENSP00000420324:G356V;ENSP00000377375:G356V;ENSP00000418092:G356V;ENSP00000419902:G356V;ENSP00000419153:G429V;ENSP00000349803:G356V;ENSP00000417307:G356V	ENSP00000349803:G356V	G	-	2	0	ZBTB20	115552329	1.000000	0.71417	0.981000	0.43875	0.909000	0.53808	2.945000	0.49043	2.560000	0.86352	0.557000	0.71058	GGT		0.607	ZBTB20-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000354951.1	NM_015642		31	60	1	0	6.02846e-25	1	6.75918e-25	31	60					A	114069639	C	A	114069639	3	1	405	1	0	0	0	0	1	0	0	0	17526	507	18	5	947	5	ZBTB20	3	114069639	Missense_Mutation	SNP	C	TCGA-VN-A88P-01A-11D-A34U-08	40411883	114069639	83952791	12	19691											
ZNF518B	85460	broad.mit.edu	37	chr4	10447287	10447287	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tccagcttggcaacagctttGactggccgtttcgcacctgc	6	11	10	14	2	0	1	0	1	0	0	2	1	1	1	3	2	4	5	3	2	1	3			TCGA-VN-A88P-01A-11D-A34U-08	TCGA-VN-A88P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4265c8-5f60-4f71-8ade-cb73044fa524	afbadcf2-d858-478b-adda-23f04631ad78	g.chr4:10447287G>C	ENST00000326756.3	-	3	1104	c.666C>G	c.(664-666)gtC>gtG	p.V222V		NM_053042.2	NP_444270.2	Q9C0D4	Z518B_HUMAN	zinc finger protein 518B	222					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	42						CAACAGCTTTGACTGGCCGTT	0.413																																						ENST00000326756.3																			0				breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	42						c.(664-666)gtC>gtG		zinc finger protein 518B							191	197	195					4																	10447287		2203	4300	6503	SO:0001819	synonymous_variant	85460				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr4:10447287G>C	AB051516	CCDS33960.1	4p16.1	2007-12-07				ENSG00000178163		"Zinc fingers, C2H2-type"	29365	protein-coding gene	gene with protein product						11214970	Standard	XM_005248193		Approved	KIAA1729	uc003gmn.3	Q9C0D4		ENST00000326756.3:c.666C>G	4.37:g.10447287G>C							p.V222V	NM_053042.2	NP_444270.2	Q9C0D4	Z518B_HUMAN			3	1104	-			222					Q96LN8	Silent	SNP	ENST00000326756.3	37	c.666C>G	CCDS33960.1																																																																																				0.413	ZNF518B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359040.1	NM_053042		9	261	0	0	0	1	0	9	261					C	10447287	G	C	10447287	2	2	405	1	0	0	0	0	0	0	0	1	17960	1277	45	5		5	ZNF518B	4	10447287	Silent	SNP	G	TCGA-VN-A88P-01A-11D-A34U-08		10447287	180706989	13	19692											
PCDHA4	56144	broad.mit.edu	37	chr5	140188584	140188584	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gatgctgactcgggctacaaCgcgtggctttcgtacgagct	7	10	13	11	5	0	1	0	1	0	0	2	3	0	1	0	2	5	5	0	2	3	3	rs17844283		TCGA-VN-A88P-01A-11D-A34U-08	TCGA-VN-A88P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4265c8-5f60-4f71-8ade-cb73044fa524	afbadcf2-d858-478b-adda-23f04631ad78	g.chr5:140188584C>T	ENST00000530339.1	+	1	1812	c.1812C>T	c.(1810-1812)aaC>aaT	p.N604N	PCDHA4_ENST00000512229.2_Silent_p.N604N|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000356878.4_Silent_p.N604N|PCDHA1_ENST00000504120.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA2_ENST00000526136.1_Intron	NM_018907.2	NP_061730.1	Q9UN74	PCDA4_HUMAN	protocadherin alpha 4	604	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(6)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGGGCTACAACGCGTGGCTTT	0.682																																						ENST00000530339.1																			0				breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(6)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	78						c.(1810-1812)aaC>aaT									122	111	115					5																	140188584		2203	4299	6502	SO:0001819	synonymous_variant	0							g.chr5:140188584C>T	AF152482	CCDS54916.1	5q31	2010-11-26				ENSG00000204967		"Cadherins / Protocadherins : Clustered"	8670	other	complex locus constituent	"ortholog of mouse CNR1, KIAA0345-like 10"	606310				10380929, 10662547	Standard	NM_018907		Approved	CNR1, CRNR1, PCDH-ALPHA4, CNRN1		Q9UN74		ENST00000530339.1:c.1812C>T	5.37:g.140188584C>T						PCDHA4_ENST00000512229.2_Silent_p.N604N|PCDHA3_ENST00000522353.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000356878.4_Silent_p.N604N|PCDHA1_ENST00000504120.2_Intron	p.N604N	NM_018907.2	NP_061730.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1812	+								O75285|Q2M253	Silent	SNP	ENST00000530339.1	37	c.1812C>T	CCDS54916.1																																																																																				0.682	PCDHA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372864.2	NM_018907		31	83	0	0	0	1	0	31	83					T	140188584	C	T	140188584	2	4	405	1	0	0	0	0	0	0	0	1	11526	535	19	1		1	PCDHA4	5	140188584	Silent	SNP	C	TCGA-VN-A88P-01A-11D-A34U-08		140188584	40726676	14	19693											
PCDHGB2	56103	broad.mit.edu	37	chr5	140741286	140741286	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	catgagcagctgcgcgccttCgagctcacactgcaggcccg	7	6	12	16	4	1	1	1	1	0	0	2	2	1	1	2	1	5	4	2	1	0	1			TCGA-VN-A88P-01A-11D-A34U-08	TCGA-VN-A88P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4265c8-5f60-4f71-8ade-cb73044fa524	afbadcf2-d858-478b-adda-23f04631ad78	g.chr5:140741286C>T	ENST00000522605.1	+	1	1584	c.1584C>T	c.(1582-1584)ttC>ttT	p.F528F	PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA5_ENST00000518069.1_5'Flank	NM_018923.2|NM_032096.1	NP_061746.1|NP_115267.1	Q9Y5G2	PCDGE_HUMAN	protocadherin gamma subfamily B, 2	528	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	14			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGCGCGCCTTCGAGCTCACAC	0.667																																						ENST00000522605.1																			0				endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	14						c.(1582-1584)ttC>ttT									29	33	32					5																	140741286		2036	4185	6221	SO:0001819	synonymous_variant	0							g.chr5:140741286C>T	AF152331	CCDS54924.1, CCDS75332.1	5q31	2010-01-26				ENSG00000253910		"Cadherins / Protocadherins : Clustered"	8709	other	protocadherin		606300				10380929	Standard	NM_018923		Approved	PCDH-GAMMA-B2		Q9Y5G2		ENST00000522605.1:c.1584C>T	5.37:g.140741286C>T						PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron	p.F528F	NM_018923.2|NM_032096.1	NP_061746.1|NP_115267.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1584	+								Q3MIJ3|Q9UN65	Silent	SNP	ENST00000522605.1	37	c.1584C>T	CCDS54924.1																																																																																				0.667	PCDHGB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374741.1	NM_018923		4	67	0	0	0	1	0	4	67					T	140741286	C	T	140741286	2	4	405	1	0	0	0	0	0	0	0	1	11563	883	31	2		2	PCDHGB2	5	140741286	Silent	SNP	C	TCGA-VN-A88P-01A-11D-A34U-08	552702	140741286	40173974	15	19694											
PPP2R2B	5521	broad.mit.edu	37	chr5	146080619	146080619	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	accacttacctcctgctctcGttgaaatattacaacccgac	11	11	4	15	2	1	1	0	1	1	0	3	2	2	1	4	0	4	2	4	0	5	4			TCGA-VN-A88P-01A-11D-A34U-08	TCGA-VN-A88P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4265c8-5f60-4f71-8ade-cb73044fa524	afbadcf2-d858-478b-adda-23f04631ad78	g.chr5:146080619G>A	ENST00000394413.3	-	2	727	c.157C>T	c.(157-159)Cga>Tga	p.R53*	PPP2R2B_ENST00000394411.4_Nonsense_Mutation_p.R53*|PPP2R2B_ENST00000394409.3_Nonsense_Mutation_p.R111*|PPP2R2B_ENST00000336640.6_Nonsense_Mutation_p.R56*|PPP2R2B_ENST00000394414.1_Nonsense_Mutation_p.R119*|PPP2R2B_ENST00000394410.2_Nonsense_Mutation_p.R42*|PPP2R2B_ENST00000530902.1_5'UTR|PPP2R2B_ENST00000508545.2_Nonsense_Mutation_p.R42*|PPP2R2B_ENST00000356826.3_Nonsense_Mutation_p.R53*|PPP2R2B_ENST00000453001.1_Nonsense_Mutation_p.R53*|PPP2R2B_ENST00000504198.1_Nonsense_Mutation_p.R59*			Q00005	2ABB_HUMAN	protein phosphatase 2, regulatory subunit B, beta	53					apoptotic process (GO:0006915)|regulation of catalytic activity (GO:0050790)|signal transduction (GO:0007165)	cytoskeleton (GO:0005856)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|protein phosphatase type 2A complex (GO:0000159)	protein phosphatase type 2A regulator activity (GO:0008601)			endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(9)|ovary(1)|prostate(4)|skin(3)	32			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TCCTGCTCTCGTTGAAATATT	0.453																																						ENST00000394413.3																			0				endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(9)|ovary(1)|prostate(4)|skin(3)	32						c.(157-159)Cga>Tga		protein phosphatase 2, regulatory subunit B, beta							308	316	314					5																	146080619		2203	4300	6503	SO:0001587	stop_gained	5521				apoptosis|signal transduction	cytoskeleton|mitochondrial outer membrane|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity	g.chr5:146080619G>A	M64930	CCDS4283.1, CCDS4284.1, CCDS43380.1, CCDS4284.2, CCDS64282.1	5q32	2013-01-10	2010-04-14		ENSG00000156475	ENSG00000156475	3.1.3.16	"Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits", "WD repeat domain containing"	9305	protein-coding gene	gene with protein product	"PP2A subunit B isoform beta"	604325	"spinocerebellar ataxia 12", "protein phosphatase 2 (formerly 2A), regulatory subunit B (PR 52), beta isoform", "protein phosphatase 2 (formerly 2A), regulatory subunit B, beta isoform"	SCA12		1849734, 10581021	Standard	NM_181674		Approved	PR55-BETA, PR52B	uc003log.5	Q00005	OTTHUMG00000163381	ENST00000394413.3:c.157C>T	5.37:g.146080619G>A	ENSP00000377935:p.Arg53*					PPP2R2B_ENST00000394411.4_Nonsense_Mutation_p.R53*|PPP2R2B_ENST00000530902.1_5'UTR|PPP2R2B_ENST00000336640.6_Nonsense_Mutation_p.R56*|PPP2R2B_ENST00000394414.1_Nonsense_Mutation_p.R119*|PPP2R2B_ENST00000453001.1_Nonsense_Mutation_p.R53*|PPP2R2B_ENST00000504198.1_Nonsense_Mutation_p.R59*|PPP2R2B_ENST00000508545.2_Nonsense_Mutation_p.R42*|PPP2R2B_ENST00000394410.2_Nonsense_Mutation_p.R42*|PPP2R2B_ENST00000356826.3_Nonsense_Mutation_p.R53*|PPP2R2B_ENST00000394409.3_Nonsense_Mutation_p.R111*	p.R53*			Q00005	2ABB_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		2	727	-			53					A6NEJ2|A8K102|B3KPD0|B7Z2F2|B7Z304|D3DQF7|D3DQF8|G3V149	Nonsense_Mutation	SNP	ENST00000394413.3	37	c.157C>T	CCDS4284.1	.	.	.	.	.	.	.	.	.	.	G	36	5.622324	0.96660	.	.	ENSG00000156475	ENST00000394413;ENST00000508545;ENST00000394414;ENST00000394411;ENST00000356826;ENST00000453001;ENST00000394410;ENST00000336640;ENST00000504198;ENST00000394409;ENST00000508267	.	.	.	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-5.8559	20.6593	0.99626	0.0:0.0:1.0:0.0	.	.	.	.	X	53;42;119;53;53;53;42;56;59;111;33	.	ENSP00000336591:R56X	R	-	1	2	AC011357.1	146060812	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.002000	0.57053	2.885000	0.99019	0.655000	0.94253	CGA		0.453	PPP2R2B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251893.2	NM_181678		97	313	0	0	0	1	0	97	313					A	146080619	G	A	146080619	4	1	405	1	0	0	0	0	0	1	0	0	12385	1153	40	1	1206	1	PPP2R2B	5	146080619	Nonsense_Mutation	SNP	G	TCGA-VN-A88P-01A-11D-A34U-08	5339333	146080619	34834641	16	19695											
FAM71B	153745	broad.mit.edu	37	chr5	156590429	156590429	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cattgctgcccctgctattgCcacatctgttctaggtcctg	5	14	8	14	0	2	0	0	0	2	0	3	0	3	0	4	1	4	3	4	1	2	5			TCGA-VN-A88P-01A-11D-A34U-08	TCGA-VN-A88P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4265c8-5f60-4f71-8ade-cb73044fa524	afbadcf2-d858-478b-adda-23f04631ad78	g.chr5:156590429C>T	ENST00000302938.4	-	2	942	c.847G>A	c.(847-849)Gca>Aca	p.A283T		NM_130899.2	NP_570969.2	Q8TC56	FA71B_HUMAN	family with sequence similarity 71, member B	283	Ala-rich.					nucleus (GO:0005634)				NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CCTGCTATTGCCACATCTGTT	0.582																																						ENST00000302938.4																			0				NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68						c.(847-849)Gca>Aca		family with sequence similarity 71, member B							126	104	111					5																	156590429		2203	4300	6503	SO:0001583	missense	153745					nucleus		g.chr5:156590429C>T		CCDS4335.1	5q33.3	2005-08-09			ENSG00000170613	ENSG00000170613			28397	protein-coding gene	gene with protein product						12477932	Standard	NM_130899		Approved	MGC26988	uc003lwn.3	Q8TC56	OTTHUMG00000130246	ENST00000302938.4:c.847G>A	5.37:g.156590429C>T	ENSP00000305596:p.Ala283Thr						p.A283T	NM_130899.2	NP_570969.2	Q8TC56	FA71B_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		2	942	-	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	283			Ala-rich.		Q1EDD9|Q8TC64|Q96LY8	Missense_Mutation	SNP	ENST00000302938.4	37	c.847G>A	CCDS4335.1	.	.	.	.	.	.	.	.	.	.	C	11.10	1.539642	0.27563	.	.	ENSG00000170613	ENST00000302938	T	0.04809	3.55	3.7	1.86	0.25419	.	0.829219	0.10160	N	0.708438	T	0.04770	0.0129	L	0.45137	1.4	0.09310	N	1	B	0.29909	0.261	B	0.22880	0.042	T	0.38373	-0.9664	10	0.48119	T	0.1	-2.3928	6.3492	0.21367	0.0:0.7665:0.0:0.2335	.	283	Q8TC56	FA71B_HUMAN	T	283	ENSP00000305596:A283T	ENSP00000305596:A283T	A	-	1	0	FAM71B	156523007	0.000000	0.05858	0.001000	0.08648	0.066000	0.16364	-0.131000	0.10482	0.506000	0.28125	0.467000	0.42956	GCA		0.582	FAM71B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252570.2	NM_130899		24	97	0	0	0	1	0	24	97					T	156590429	C	T	156590429	3	4	405	1	0	0	0	0	1	0	0	0	5608	739	26	3	974	3	FAM71B	5	156590429	Missense_Mutation	SNP	C	TCGA-VN-A88P-01A-11D-A34U-08	10509810	156590429	24324831	17	19696											
PTK7	5754	broad.mit.edu	37	chr6	43112201	43112201	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttcccaggtgggcctttgcAgaacgggcagccctcagcag	7	7	13	14	1	1	1	1	0	0	1	2	1	2	1	3	3	4	3	3	3	1	2			TCGA-VN-A88P-01A-11D-A34U-08	TCGA-VN-A88P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4265c8-5f60-4f71-8ade-cb73044fa524	afbadcf2-d858-478b-adda-23f04631ad78	g.chr6:43112201A>G	ENST00000230419.4	+	15	2485	c.2264A>G	c.(2263-2265)cAg>cGg	p.Q755R	PTK7_ENST00000481273.1_Missense_Mutation_p.Q763R|PTK7_ENST00000345201.2_Missense_Mutation_p.Q715R|PTK7_ENST00000349241.2_Missense_Mutation_p.Q625R|PTK7_ENST00000352931.2_Missense_Mutation_p.Q699R	NM_002821.4	NP_002812.2	Q13308	PTK7_HUMAN	protein tyrosine kinase 7	755				Q -> R (in Ref. 4; BAH12463). {ECO:0000305}.	actin cytoskeleton reorganization (GO:0031532)|axis elongation (GO:0003401)|canonical Wnt signaling pathway (GO:0060070)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cellular response to retinoic acid (GO:0071300)|cochlea morphogenesis (GO:0090103)|convergent extension (GO:0060026)|establishment of epithelial cell apical/basal polarity (GO:0045198)|establishment of planar polarity (GO:0001736)|lung-associated mesenchyme development (GO:0060484)|neural tube closure (GO:0001843)|peptidyl-tyrosine phosphorylation (GO:0018108)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of neuron projection development (GO:0010976)|signal transduction (GO:0007165)|wound healing (GO:0042060)	cell-cell junction (GO:0005911)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(12)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00784)|OV - Ovarian serous cystadenocarcinoma(102;0.0423)			GGGCCTTTGCAGAACGGGCAG	0.592																																						ENST00000230419.4																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(12)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						c.(2263-2265)cAg>cGg		protein tyrosine kinase 7							89	86	87					6																	43112201		2203	4300	6503	SO:0001583	missense	0				actin cytoskeleton reorganization|canonical Wnt receptor signaling pathway|cell adhesion|cell migration	cell-cell junction|integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr6:43112201A>G	AF447176	CCDS4884.1, CCDS4885.1, CCDS4886.1, CCDS4887.1, CCDS59021.1	6p21.1-p12.2	2013-02-18	2013-02-18		ENSG00000112655	ENSG00000112655	2.7.10.1	"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	9618	protein-coding gene	gene with protein product		601890	"PTK7 protein tyrosine kinase 7"			7478540	Standard	NM_002821		Approved	CCK4	uc011dve.2	Q13308	OTTHUMG00000014721	ENST00000230419.4:c.2264A>G	6.37:g.43112201A>G	ENSP00000230419:p.Gln755Arg					PTK7_ENST00000481273.1_Missense_Mutation_p.Q763R|PTK7_ENST00000352931.2_Missense_Mutation_p.Q699R|PTK7_ENST00000349241.2_Missense_Mutation_p.Q625R|PTK7_ENST00000345201.2_Missense_Mutation_p.Q715R	p.Q755R	NM_002821.4	NP_002812.2	Q13308	PTK7_HUMAN	Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00784)|OV - Ovarian serous cystadenocarcinoma(102;0.0423)		15	2485	+			755					A8K974|B7Z477|E9PFZ5|Q13417|Q5T650|Q6IQ54|Q8NFA5|Q8NFA6|Q8NFA7|Q8NFA8	Missense_Mutation	SNP	ENST00000230419.4	37	c.2264A>G	CCDS4884.1	.	.	.	.	.	.	.	.	.	.	A	19.33	3.806054	0.70682	.	.	ENSG00000112655	ENST00000230419;ENST00000349241;ENST00000352931;ENST00000345201;ENST00000481273;ENST00000473339	T;T;T;T;T;T	0.77358	-0.68;-0.77;-0.62;-0.69;-0.7;-1.09	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	T	0.79476	0.4452	M	0.63428	1.95	0.58432	D	0.999997	P;B;D;B;D	0.61697	0.893;0.001;0.967;0.001;0.99	P;B;P;B;P	0.58577	0.482;0.012;0.595;0.007;0.841	T	0.78013	-0.2370	10	0.30854	T	0.27	.	15.8419	0.78852	1.0:0.0:0.0:0.0	.	763;625;715;699;755	E9PFZ5;Q13308-3;Q13308-2;Q13308-4;Q13308	.;.;.;.;PTK7_HUMAN	R	755;625;699;715;763;23	ENSP00000230419:Q755R;ENSP00000325462:Q625R;ENSP00000326029:Q699R;ENSP00000325992:Q715R;ENSP00000418754:Q763R;ENSP00000420186:Q23R	ENSP00000230418:Q755R	Q	+	2	0	PTK7	43220179	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	6.703000	0.74633	2.137000	0.66172	0.533000	0.62120	CAG		0.592	PTK7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040580.2			11	62	0	0	0	1	0	11	62					G	43112201	A	G	43112201	3	3	405	1	0	0	0	0	1	0	0	0	12765	188	7	4	2322	4	PTK7	6	43112201	Missense_Mutation	SNP	A	TCGA-VN-A88P-01A-11D-A34U-08		43112201	128002866	18	19697											
NT5E	4907	broad.mit.edu	37	chr6	86195049	86195049	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgtagtccaggcctatgcttTtggcaaatacctaggctatc	9	13	9	10	0	0	0	0	0	0	0	2	0	1	0	3	3	2	4	3	3	6	7			TCGA-VN-A88P-01A-11D-A34U-08	TCGA-VN-A88P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4265c8-5f60-4f71-8ade-cb73044fa524	afbadcf2-d858-478b-adda-23f04631ad78	g.chr6:86195049T>G	ENST00000257770.3	+	4	897	c.848T>G	c.(847-849)tTt>tGt	p.F283C	NT5E_ENST00000369651.3_Missense_Mutation_p.F283C	NM_002526.3	NP_002517.1	P21589	5NTD_HUMAN	5'-nucleotidase, ecto (CD73)	283					adenosine biosynthetic process (GO:0046086)|AMP catabolic process (GO:0006196)|dephosphorylation (GO:0016311)|DNA metabolic process (GO:0006259)|negative regulation of inflammatory response (GO:0050728)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide catabolic process (GO:0006195)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	5'-nucleotidase activity (GO:0008253)|metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_cancers(76;0.000215)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0427)		BRCA - Breast invasive adenocarcinoma(108;0.0417)	Cytarabine(DB00987)|Pentoxifylline(DB00806)	GCCTATGCTTTTGGCAAATAC	0.468																																					Melanoma(140;797 1765 2035 2752 18208)	ENST00000257770.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						c.(847-849)tTt>tGt		5'-nucleotidase, ecto (CD73)	Pentoxifylline(DB00806)						143	123	129					6																	86195049		2203	4300	6503	SO:0001583	missense	4907				DNA metabolic process|purine base metabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	anchored to membrane|cytoplasm|membrane fraction|plasma membrane	5'-nucleotidase activity|nucleotide binding	g.chr6:86195049T>G	X55740	CCDS5002.1, CCDS56439.1	6q14-q21	2013-08-28	2002-04-18	2002-04-19	ENSG00000135318	ENSG00000135318	3.1.3.5	"CD molecules"	8021	protein-coding gene	gene with protein product		129190	"5' nucleotidase (CD73)"	NT5			Standard	NM_002526		Approved	CD73, eN, eNT, CALJA	uc003pko.4	P21589	OTTHUMG00000015139	ENST00000257770.3:c.848T>G	6.37:g.86195049T>G	ENSP00000257770:p.Phe283Cys					NT5E_ENST00000369651.3_Missense_Mutation_p.F283C	p.F283C	NM_002526.3	NP_002517.1	P21589	5NTD_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0417)	4	897	+		all_cancers(76;0.000215)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0427)	283					B3KQI8|O75520|Q5W116	Missense_Mutation	SNP	ENST00000257770.3	37	c.848T>G	CCDS5002.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	19.03|19.03	3.747061|3.747061	0.69418|0.69418	.|.	.|.	ENSG00000135318|ENSG00000135318	ENST00000369647;ENST00000257770;ENST00000369651|ENST00000416334	T;T|.	0.55930|.	0.49;0.49|.	5.63|5.63	5.63|5.63	0.86233|0.86233	.|.	0.091610|.	0.85682|.	D|.	0.000000|.	T|T	0.69433|0.69433	0.3110|0.3110	M|M	0.83953|0.83953	2.67|2.67	0.51233|0.51233	D|D	0.999915|0.999915	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.74023|.	0.976;0.982|.	T|T	0.74090|0.74090	-0.3777|-0.3777	10|5	0.87932|.	D|.	0|.	-26.6486|-26.6486	11.6065|11.6065	0.51035|0.51035	0.1409:0.0:0.0:0.8591|0.1409:0.0:0.0:0.8591	.|.	283;283|.	B3KQI8;P21589|.	.;5NTD_HUMAN|.	C|V	59;283;283|48	ENSP00000257770:F283C;ENSP00000358665:F283C|.	ENSP00000257770:F283C|.	F|L	+|+	2|1	0|2	NT5E|NT5E	86251768|86251768	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	4.755000|4.755000	0.62198|0.62198	2.138000|2.138000	0.66242|0.66242	0.379000|0.379000	0.24179|0.24179	TTT|TTG		0.468	NT5E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041388.1			43	45	0	0	0	1	0	43	45					G	86195049	T	G	86195049	3	3	405	1	0	0	0	0	1	0	0	0	10693	1841	64	5	862	5	NT5E	6	86195049	Missense_Mutation	SNP	T	TCGA-VN-A88P-01A-11D-A34U-08	43082848	86195049	84920018	19	19698											
SDK1	221935	broad.mit.edu	37	chr7	4119141	4119141	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcatttccaacatcagcccTcgctccgccacccttcagtt	7	11	5	18	2	3	0	3	0	0	0	6	0	5	0	5	0	2	2	5	0	1	3			TCGA-VN-A88P-01A-11D-A34U-08	TCGA-VN-A88P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4265c8-5f60-4f71-8ade-cb73044fa524	afbadcf2-d858-478b-adda-23f04631ad78	g.chr7:4119141T>G	ENST00000404826.2	+	22	3388	c.3249T>G	c.(3247-3249)ccT>ccG	p.P1083P	SDK1_ENST00000389531.3_Silent_p.P1083P	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	1083	Fibronectin type-III 5. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		ACATCAGCCCTCGCTCCGCCA	0.567																																						ENST00000404826.2																			0				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153						c.(3247-3249)ccT>ccG		sidekick cell adhesion molecule 1							176	161	166					7																	4119141		2203	4300	6503	SO:0001819	synonymous_variant	221935				cell adhesion	integral to membrane		g.chr7:4119141T>G	AK074077	CCDS34590.1	7p22.3	2013-02-11	2011-12-09		ENSG00000146555	ENSG00000146555		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	19307	protein-coding gene	gene with protein product		607216	"sidekick homolog 1 (chicken)", "sidekick homolog 1, cell adhesion molecule (chicken)"			12230981, 17307840, 15213259	Standard	NM_001079653		Approved	FLJ31425	uc003smx.3	Q7Z5N4	OTTHUMG00000151733	ENST00000404826.2:c.3249T>G	7.37:g.4119141T>G						SDK1_ENST00000389531.3_Silent_p.P1083P	p.P1083P	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)	22	3388	+		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)	1083			Fibronectin type-III 5.		Q8TEN9|Q8TEP5|Q96N44	Silent	SNP	ENST00000404826.2	37	c.3249T>G	CCDS34590.1																																																																																				0.567	SDK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323702.1	NM_152744		27	123	0	0	0	1	0	27	123					G	4119141	T	G	4119141	2	3	405	1	0	0	0	0	0	0	0	1	13968	1538	54	5		5	SDK1	7	4119141	Silent	SNP	T	TCGA-VN-A88P-01A-11D-A34U-08		4119141	155019522	20	19699											
SEMA3A	10371	broad.mit.edu	37	chr7	83590830	83590830	+	Frame_Shift_Del	DEL	C	C	-																															ttttcggtcccttttccaaaCttgttcacagaactcatcca																										TCGA-VN-A88P-01A-11D-A34U-08	TCGA-VN-A88P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4265c8-5f60-4f71-8ade-cb73044fa524	afbadcf2-d858-478b-adda-23f04631ad78	g.chr7:83590830delC	ENST00000265362.4	-	17	2487	c.2173delG	c.(2173-2175)gttfs	p.V725fs	SEMA3A_ENST00000436949.1_Frame_Shift_Del_p.V725fs	NM_006080.2	NP_006071.1	Q14563	SEM3A_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A	725					apoptotic process (GO:0006915)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|axonogenesis involved in innervation (GO:0060385)|branchiomotor neuron axon guidance (GO:0021785)|dendrite morphogenesis (GO:0048813)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|facial nerve structural organization (GO:0021612)|gonadotrophin-releasing hormone neuronal migration to the hypothalamus (GO:0021828)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of epithelial cell migration (GO:0010633)|nerve development (GO:0021675)|neural crest cell migration involved in autonomic nervous system development (GO:1901166)|neural crest cell migration involved in sympathetic nervous system development (GO:1903045)|neuron migration (GO:0001764)|olfactory bulb development (GO:0021772)|positive regulation of male gonad development (GO:2000020)|positive regulation of neuron migration (GO:2001224)|regulation of axon extension involved in axon guidance (GO:0048841)|regulation of heart rate (GO:0002027)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|semaphorin-plexin signaling pathway involved in neuron projection guidance (GO:1902285)|sensory system development (GO:0048880)|sympathetic ganglion development (GO:0061549)|sympathetic nervous system development (GO:0048485)|sympathetic neuron projection extension (GO:0097490)|sympathetic neuron projection guidance (GO:0097491)|trigeminal nerve structural organization (GO:0021637)	axon (GO:0030424)|dendrite (GO:0030425)|extracellular region (GO:0005576)|membrane (GO:0016020)	chemorepellent activity (GO:0045499)|neuropilin binding (GO:0038191)|receptor activity (GO:0004872)			breast(3)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53						CTTTTCCAAACTTGTTCACAG	0.453																																						ENST00000265362.3																			0				breast(3)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53						c.(2173-2175)ttfs		sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A							208	181	190					7																	83590830		2203	4300	6503	SO:0001589	frameshift_variant	10371				axon guidance	extracellular region|membrane	receptor activity	g.chr7:83590830delC	L26081	CCDS5599.1	7p12.1	2013-01-11			ENSG00000075213	ENSG00000075213		"Semaphorins", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	10723	protein-coding gene	gene with protein product	"sema III"	603961		SEMAD		8269517, 7748561	Standard	NM_006080		Approved	SEMA1, SemD, coll-1, Hsema-I	uc003uhz.3	Q14563	OTTHUMG00000023443	ENST00000265362.4:c.2173delG	7.37:g.83590830delC	ENSP00000265362:p.Val725fs					SEMA3A_ENST00000436949.1_Frame_Shift_Del_p.V725fs	p.V725fs	NM_006080.2	NP_006071.1	Q14563	SEM3A_HUMAN			17	2487	-			725						Frame_Shift_Del	DEL	ENST00000265362.4	37	c.2173delG	CCDS5599.1																																																																																				0.453	SEMA3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253355.2	NM_006080		7	141						7	141	---	---	---	---	-	83590830	C	-	83590830	7	5	405	1	0	1	0	1	0	0	0	0	14024	565	20	0	146	0	SEMA3A	7	83590830	Frame_Shift_Del	DEL	C	TCGA-VN-A88P-01A-11D-A34U-08	79471689	83590830	75547833	21	19700											
FASTK	10922	broad.mit.edu	37	chr7	150776063	150776063	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcggagggaggcggagccttCgctcctgttccagggcacac	6	7	15	13	3	0	0	0	0	0	0	4	3	2	3	3	5	1	3	3	5	0	2	rs376276704		TCGA-VN-A88P-01A-11D-A34U-08	TCGA-VN-A88P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4265c8-5f60-4f71-8ade-cb73044fa524	afbadcf2-d858-478b-adda-23f04631ad78	g.chr7:150776063C>T	ENST00000297532.6	-	3	628	c.551G>A	c.(550-552)cGa>cAa	p.R184Q	FASTK_ENST00000489884.1_5'UTR|RP11-148K1.12_ENST00000485974.1_RNA|FASTK_ENST00000540185.1_Intron|FASTK_ENST00000482571.1_Missense_Mutation_p.R184Q|FASTK_ENST00000353841.2_Missense_Mutation_p.R43Q	NM_006712.4	NP_006703.1	Q14296	FASTK_HUMAN	Fas-activated serine/threonine kinase	184					apoptotic signaling pathway (GO:0097190)|protein phosphorylation (GO:0006468)|regulation of RNA splicing (GO:0043484)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|Fas-activated serine/threonine kinase activity (GO:0033867)|protein serine/threonine kinase activity (GO:0004674)			lung(4)|stomach(2)	6			OV - Ovarian serous cystadenocarcinoma(82;0.00989)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)|LUSC - Lung squamous cell carcinoma(290;0.0718)|Lung(243;0.138)		GCGGAGCCTTCGCTCCTGTTC	0.607																																						ENST00000297532.6																			0				lung(4)|stomach(2)	6						c.(550-552)cGa>cAa		Fas-activated serine/threonine kinase		C	GLN/ARG,GLN/ARG	1,4401		0,1,2200	19	20	20		551,128	2	1	7		20	0,8598		0,0,4299	no	missense,missense	FASTK	NM_006712.3,NM_033015.2	43,43	0,1,6499	TT,TC,CC		0.0,0.0227,0.0077	possibly-damaging,possibly-damaging	184/550,43/409	150776063	1,12999	2201	4299	6500	SO:0001583	missense	10922				apoptosis|induction of apoptosis by extracellular signals|regulation of RNA splicing		ATP binding|Fas-activated serine/threonine kinase activity|protein binding	g.chr7:150776063C>T		CCDS5918.1, CCDS5919.1, CCDS59088.1	7q35	2006-07-06			ENSG00000164896	ENSG00000164896			24676	protein-coding gene	gene with protein product		606965				7544399, 15572676	Standard	NM_006712		Approved	FAST	uc003wix.2	Q14296	OTTHUMG00000158694	ENST00000297532.6:c.551G>A	7.37:g.150776063C>T	ENSP00000297532:p.Arg184Gln					FASTK_ENST00000540185.1_Intron|FASTK_ENST00000482571.1_Missense_Mutation_p.R184Q|FASTK_ENST00000489884.1_5'UTR|FASTK_ENST00000353841.2_Missense_Mutation_p.R43Q	p.R184Q	NM_006712.4	NP_006703.1	Q14296	FASTK_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00989)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)|LUSC - Lung squamous cell carcinoma(290;0.0718)|Lung(243;0.138)	3	628	-			184					A8K867|F8VTW9|Q59EM8|Q8IVA0	Missense_Mutation	SNP	ENST00000297532.6	37	c.551G>A	CCDS5918.1	.	.	.	.	.	.	.	.	.	.	C	15.39	2.819273	0.50633	2.27E-4	0.0	ENSG00000164896	ENST00000483105;ENST00000297530;ENST00000353841;ENST00000297532;ENST00000482571	T;T;T	0.33865	1.9;1.82;1.39	3.84	2.04	0.26737	.	0.260896	0.23556	N	0.046916	T	0.29783	0.0744	N	0.19112	0.55	0.80722	D	1	D;B;B	0.71674	0.998;0.052;0.052	P;B;B	0.54100	0.742;0.003;0.003	T	0.03728	-1.1009	10	0.41790	T	0.15	-0.3664	6.1816	0.20474	0.0:0.7719:0.0:0.2281	.	184;43;184	F8VTW9;Q8IVA0;Q14296	.;.;FASTK_HUMAN	Q	184;184;43;184;184	ENSP00000324817:R43Q;ENSP00000297532:R184Q;ENSP00000418516:R184Q	ENSP00000297530:R184Q	R	-	2	0	FASTK	150406996	0.720000	0.27996	0.956000	0.39512	0.984000	0.73092	0.514000	0.22786	0.595000	0.29777	0.655000	0.94253	CGA		0.607	FASTK-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351832.2	NM_006712		8	8	0	0	0	1	0	8	8					T	150776063	C	T	150776063	3	4	405	1	0	0	0	0	1	0	0	0	5684	884	31	2	1130	2	FASTK	7	150776063	Missense_Mutation	SNP	C	TCGA-VN-A88P-01A-11D-A34U-08	67185233	150776063	8362600	22	19701											
PHYHIP	9796	broad.mit.edu	37	chr8	22079251	22079251	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctgggatctggaagcgccagCggccgtagggggagtcctgc	6	6	18	11	3	1	0	0	0	1	0	2	3	2	3	3	5	3	1	3	5	2	1			TCGA-VN-A88P-01A-11D-A34U-08	TCGA-VN-A88P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4265c8-5f60-4f71-8ade-cb73044fa524	afbadcf2-d858-478b-adda-23f04631ad78	g.chr8:22079251C>T	ENST00000321613.3	-	6	1064	c.608G>A	c.(607-609)cGc>cAc	p.R203H	PHYHIP_ENST00000454243.2_Missense_Mutation_p.R203H	NM_001099335.1	NP_001092805.1	Q92561	PHYIP_HUMAN	phytanoyl-CoA 2-hydroxylase interacting protein	203										endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|upper_aerodigestive_tract(1)	10				Colorectal(74;0.0152)|COAD - Colon adenocarcinoma(73;0.0629)		GAAGCGCCAGCGGCCGTAGGG	0.627																																						ENST00000454243.2																			0				endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|upper_aerodigestive_tract(1)	10						c.(607-609)cGc>cAc		phytanoyl-CoA 2-hydroxylase interacting protein							14	19	17					8																	22079251		1950	4121	6071	SO:0001583	missense	9796							g.chr8:22079251C>T	D87463	CCDS43723.1	8p21.2	2010-02-17	2006-01-09		ENSG00000168490	ENSG00000168490			16865	protein-coding gene	gene with protein product		608511	"phytanoyl-CoA hydroxylase interacting protein", "DYRK1A interacting protein 3"	DYRK1AP3		9039502, 10686344	Standard	NM_014759		Approved	KIAA0273, PAHX-AP	uc003xbj.4	Q92561	OTTHUMG00000163776	ENST00000321613.3:c.608G>A	8.37:g.22079251C>T	ENSP00000320017:p.Arg203His					PHYHIP_ENST00000321613.3_Missense_Mutation_p.R203H	p.R203H	NM_014759.3	NP_055574.3	Q92561	PHYIP_HUMAN		Colorectal(74;0.0152)|COAD - Colon adenocarcinoma(73;0.0629)	5	1182	-			203					D3DSR1|Q8N4I9	Missense_Mutation	SNP	ENST00000321613.3	37	c.608G>A	CCDS43723.1	.	.	.	.	.	.	.	.	.	.	C	19.65	3.866582	0.72065	.	.	ENSG00000168490	ENST00000321613;ENST00000454243;ENST00000456132;ENST00000523252	T;T	0.32515	1.45;1.45	4.76	4.76	0.60689	.	0.056999	0.64402	D	0.000001	T	0.52821	0.1758	M	0.65975	2.015	0.46131	D	0.998887	D	0.76494	0.999	D	0.67103	0.949	T	0.53690	-0.8403	10	0.48119	T	0.1	-41.8043	16.8934	0.86093	0.0:1.0:0.0:0.0	.	203	Q92561	PHYIP_HUMAN	H	203;203;110;155	ENSP00000320017:R203H;ENSP00000415491:R203H	ENSP00000320017:R203H	R	-	2	0	PHYHIP	22135196	1.000000	0.71417	1.000000	0.80357	0.934000	0.57294	3.974000	0.56852	2.352000	0.79861	0.555000	0.69702	CGC		0.627	PHYHIP-002	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000375388.1	NM_014759		5	8	0	0	0	1	0	5	8					T	22079251	C	T	22079251	3	4	405	1	0	0	0	0	1	0	0	0	11866	768	27	1	388	1	PHYHIP	8	22079251	Missense_Mutation	SNP	C	TCGA-VN-A88P-01A-11D-A34U-08		22079251	124284771	23	19702											
PI15	51050	broad.mit.edu	37	chr8	75761482	75761485	+	Frame_Shift_Del	DEL	TAAA	TAAA	-																															tcaaactacctgtactggttTaaataagtttaccttttcct																								rs536342698		TCGA-VN-A88P-01A-11D-A34U-08	TCGA-VN-A88P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4265c8-5f60-4f71-8ade-cb73044fa524	afbadcf2-d858-478b-adda-23f04631ad78	g.chr8:75761482_75761485delTAAA	ENST00000260113.2	+	6	950_953	c.771_774delTAAA	c.(769-774)tttaaafs	p.FK257fs	RP11-758M4.4_ENST00000523860.1_RNA|PI15_ENST00000523773.1_Frame_Shift_Del_p.FK257fs|RP11-758M4.4_ENST00000518128.1_RNA|RP11-758M4.4_ENST00000522914.1_RNA	NM_015886.3	NP_056970.1	O43692	PI15_HUMAN	peptidase inhibitor 15	257						extracellular vesicular exosome (GO:0070062)	peptidase inhibitor activity (GO:0030414)			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|skin(1)	30	Breast(64;0.137)		BRCA - Breast invasive adenocarcinoma(89;0.104)|Epithelial(68;0.118)			TGTACTGGTTTAAATAAGTTTACC	0.358																																						ENST00000260113.2																			0				breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|skin(1)	30						c.(769-774)ttfs		peptidase inhibitor 15																																				SO:0001589	frameshift_variant	51050					extracellular region	peptidase inhibitor activity	g.chr8:75761482_75761485delTAAA	D45027	CCDS6218.1	8q13.3	2005-08-17	2005-08-17		ENSG00000137558	ENSG00000137558			8946	protein-coding gene	gene with protein product		607076	"protease inhibitor 15"			8882727, 9473672	Standard	XM_005251255		Approved	P25TI	uc003yal.3	O43692	OTTHUMG00000164528	ENST00000260113.2:c.771_774delTAAA	8.37:g.75761482_75761485delTAAA	ENSP00000260113:p.Phe257fs					PI15_ENST00000523773.1_Frame_Shift_Del_p.FK257fs|RP11-758M4.4_ENST00000522914.1_RNA|RP11-758M4.4_ENST00000518128.1_RNA|RP11-758M4.4_ENST00000523860.1_RNA	p.FK257fs	NM_015886.3	NP_056970.1	O43692	PI15_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.104)|Epithelial(68;0.118)		6	950_953	+	Breast(64;0.137)		257					Q68CY1	Frame_Shift_Del	DEL	ENST00000260113.2	37	c.771_774delTAAA	CCDS6218.1																																																																																				0.358	PI15-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379115.1	NM_015886		38	41						38	41	---	---	---	---	-	75761485	TAAA	-	75761482	7	5	405	1	0	1	0	1	0	0	0	0	11868	1751	61	0	789	0	PI15	8	75761482	Frame_Shift_Del	DEL	TAAA	TCGA-VN-A88P-01A-11D-A34U-08	53682231	75761482	70602540	24	19703											
TMEM74	157753	broad.mit.edu	37	chr8	109796599	109796599	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacaagcaggacaggatgacGccccccagcgtgaggaggca	13	2	14	12	2	0	2	0	2	0	0	0	5	0	5	3	4	3	2	3	4	2	0			TCGA-VN-A88P-01A-11D-A34U-08	TCGA-VN-A88P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4265c8-5f60-4f71-8ade-cb73044fa524	afbadcf2-d858-478b-adda-23f04631ad78	g.chr8:109796599G>A	ENST00000297459.3	-	2	907	c.729C>T	c.(727-729)ggC>ggT	p.G243G	TMEM74_ENST00000518838.1_Intron	NM_153015.1	NP_694560.1	Q96NL1	TMM74_HUMAN	transmembrane protein 74	243					autophagy (GO:0006914)	cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)		p.G243G(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	29			OV - Ovarian serous cystadenocarcinoma(57;3.08e-10)			ACAGGATGACGCCCCCCAGCG	0.582																																						ENST00000297459.3																			1	Substitution - coding silent(1)	p.G243G(1)	prostate(1)	breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	29						c.(727-729)ggC>ggT		transmembrane protein 74							69	67	67					8																	109796599		2203	4300	6503	SO:0001819	synonymous_variant	157753				autophagy	autophagic vacuole membrane|cytoplasmic vesicle|integral to membrane|lysosomal membrane		g.chr8:109796599G>A	AK055230	CCDS6310.1	8q23.1	2009-11-06				ENSG00000164841			26409	protein-coding gene	gene with protein product		613935				12477932	Standard	NM_153015		Approved	FLJ30668, NET36	uc003ymy.1	Q96NL1		ENST00000297459.3:c.729C>T	8.37:g.109796599G>A						TMEM74_ENST00000518838.1_Intron	p.G243G	NM_153015.1	NP_694560.1	Q96NL1	TMM74_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;3.08e-10)		2	907	-			243						Silent	SNP	ENST00000297459.3	37	c.729C>T	CCDS6310.1																																																																																				0.582	TMEM74-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380755.1	NM_153015		15	59	0	0	0	1	0	15	59					A	109796599	G	A	109796599	2	1	405	1	0	0	0	0	0	0	0	1	16199	1074	38	1		1	TMEM74	8	109796599	Silent	SNP	G	TCGA-VN-A88P-01A-11D-A34U-08	34035117	109796599	36567423	25	19704											
RANBP6	26953	broad.mit.edu	37	chr9	6013360	6013360	+	Missense_Mutation	SNP	G	G	A																															gaattgccacatctgtgcaaGatactctgggccacgaattc																								rs553843673		TCGA-VN-A88P-01A-11D-A34U-08	TCGA-VN-A88P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4265c8-5f60-4f71-8ade-cb73044fa524	afbadcf2-d858-478b-adda-23f04631ad78	g.chr9:6013360G>A	ENST00000259569.5	-	1	2258	c.2248C>T	c.(2248-2250)Ctt>Ttt	p.L750F	RANBP6_ENST00000485372.1_5'Flank	NM_001243202.1|NM_001243203.1|NM_012416.3	NP_001230131.1|NP_001230132.1|NP_036548.1	O60518	RNBP6_HUMAN	RAN binding protein 6	750					protein transport (GO:0015031)	cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.L750F(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(5)|large_intestine(8)|lung(9)|ovary(7)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	51		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00522)|Lung(218;0.101)		ATCTGTGCAAGATACTCTGGG	0.413																																						ENST00000259569.5																			1	Substitution - Missense(1)	p.L750F(1)	skin(1)	NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(5)|large_intestine(8)|lung(9)|ovary(7)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	51						c.(2248-2250)Ctt>Ttt		RAN binding protein 6							77	77	77					9																	6013360		2203	4300	6503	SO:0001583	missense	26953				protein transport	cytoplasm|nucleus	binding	g.chr9:6013360G>A	AF039023	CCDS6467.1	9p24.1	2008-03-26			ENSG00000137040	ENSG00000137040			9851	protein-coding gene	gene with protein product							Standard	NM_001243202		Approved		uc003zjr.3	O60518	OTTHUMG00000019512	ENST00000259569.5:c.2248C>T	9.37:g.6013360G>A	ENSP00000259569:p.Leu750Phe						p.L750F	NM_001243202.1|NM_001243203.1|NM_012416.3	NP_001230131.1|NP_001230132.1|NP_036548.1	O60518	RNBP6_HUMAN		GBM - Glioblastoma multiforme(50;0.00522)|Lung(218;0.101)	1	2258	-		Acute lymphoblastic leukemia(23;0.158)	750					Q5T7X4|Q7Z3V2|Q96E78	Missense_Mutation	SNP	ENST00000259569.5	37	c.2248C>T	CCDS6467.1	.	.	.	.	.	.	.	.	.	.	G	16.38	3.107626	0.56291	.	.	ENSG00000137040	ENST00000259569	T	0.67171	-0.25	3.85	3.85	0.44370	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.64402	U	0.000001	T	0.70037	0.3178	L	0.47190	1.495	0.80722	D	1	D;D	0.63046	0.992;0.992	P;D	0.64237	0.84;0.923	T	0.67975	-0.5531	10	0.40728	T	0.16	-9.9487	7.5363	0.27712	0.1123:0.0:0.8877:0.0	.	338;750	B4DTX6;O60518	.;RNBP6_HUMAN	F	750	ENSP00000259569:L750F	ENSP00000259569:L750F	L	-	1	0	RANBP6	6003360	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.317000	0.65822	2.439000	0.82584	0.650000	0.86243	CTT		0.413	RANBP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051650.1	NM_012416		11	86	0	0	0	1	0	11	86					A	6013360	G	A	6013360	3	1	405	1	0	0	0	0	1	0	0	0	13031	942	33	3	1073	3	RANBP6	9	6013360	Missense_Mutation	SNP	G	TCGA-VN-A88P-01A-11D-A34U-08		6013360	135200071	26	19705	100	2									
RANBP6	26953	broad.mit.edu	37	chr9	6013361	6013361	+	Nonsense_Mutation	SNP	A	A	T																															aattgccacatctgtgcaagAtactctgggccacgaattct																										TCGA-VN-A88P-01A-11D-A34U-08	TCGA-VN-A88P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4265c8-5f60-4f71-8ade-cb73044fa524	afbadcf2-d858-478b-adda-23f04631ad78	g.chr9:6013361A>T	ENST00000259569.5	-	1	2257	c.2247T>A	c.(2245-2247)taT>taA	p.Y749*	RANBP6_ENST00000485372.1_5'Flank	NM_001243202.1|NM_001243203.1|NM_012416.3	NP_001230131.1|NP_001230132.1|NP_036548.1	O60518	RNBP6_HUMAN	RAN binding protein 6	749					protein transport (GO:0015031)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(5)|large_intestine(8)|lung(9)|ovary(7)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	51		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00522)|Lung(218;0.101)		TCTGTGCAAGATACTCTGGGC	0.413																																						ENST00000259569.5																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(5)|large_intestine(8)|lung(9)|ovary(7)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	51						c.(2245-2247)taT>taA		RAN binding protein 6							77	77	77					9																	6013361		2203	4300	6503	SO:0001587	stop_gained	26953				protein transport	cytoplasm|nucleus	binding	g.chr9:6013361A>T	AF039023	CCDS6467.1	9p24.1	2008-03-26			ENSG00000137040	ENSG00000137040			9851	protein-coding gene	gene with protein product							Standard	NM_001243202		Approved		uc003zjr.3	O60518	OTTHUMG00000019512	ENST00000259569.5:c.2247T>A	9.37:g.6013361A>T	ENSP00000259569:p.Tyr749*						p.Y749*	NM_001243202.1|NM_001243203.1|NM_012416.3	NP_001230131.1|NP_001230132.1|NP_036548.1	O60518	RNBP6_HUMAN		GBM - Glioblastoma multiforme(50;0.00522)|Lung(218;0.101)	1	2257	-		Acute lymphoblastic leukemia(23;0.158)	749					Q5T7X4|Q7Z3V2|Q96E78	Nonsense_Mutation	SNP	ENST00000259569.5	37	c.2247T>A	CCDS6467.1	.	.	.	.	.	.	.	.	.	.	A	35	5.557216	0.96514	.	.	ENSG00000137040	ENST00000259569	.	.	.	3.85	3.85	0.44370	.	0.065525	0.64402	U	0.000006	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-10.1789	6.0078	0.19557	0.8877:0.0:0.1123:0.0	.	.	.	.	X	749	.	ENSP00000259569:Y749X	Y	-	3	2	RANBP6	6003361	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.474000	0.53129	1.976000	0.57569	0.528000	0.53228	TAT		0.413	RANBP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051650.1	NM_012416		11	87	0	0	0	1	0	11	87					T	6013361	A	T	6013361	4	4	405	1	0	0	0	0	0	1	0	0	13031	340	12	5	1074	5	RANBP6	9	6013361	Nonsense_Mutation	SNP	A	TCGA-VN-A88P-01A-11D-A34U-08	1	6013361	135200070	27	19706	100	2									
IPPK	64768	broad.mit.edu	37	chr9	95378253	95378253	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatactgatggggaatgctcTcgtagggcttgaggtcaagg	9	11	15	6	1	2	2	1	2	1	0	3	3	2	3	0	5	2	3	0	5	5	4			TCGA-VN-A88P-01A-11D-A34U-08	TCGA-VN-A88P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4265c8-5f60-4f71-8ade-cb73044fa524	afbadcf2-d858-478b-adda-23f04631ad78	g.chr9:95378253T>C	ENST00000287996.3	-	13	1613	c.1337A>G	c.(1336-1338)gAg>gGg	p.E446G	IPPK_ENST00000486841.1_5'UTR|CENPP_ENST00000375587.3_3'UTR|IPPK_ENST00000375522.1_Missense_Mutation_p.E118G	NM_022755.5	NP_073592.1	Q9H8X2	IPPK_HUMAN	inositol 1,3,4,5,6-pentakisphosphate 2-kinase	446					inositol phosphate metabolic process (GO:0043647)|inositol phosphorylation (GO:0052746)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|intracellular (GO:0005622)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|inositol pentakisphosphate 2-kinase activity (GO:0035299)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(2)|urinary_tract(1)	15						GGGAATGCTCTCGTAGGGCTT	0.498																																						ENST00000287996.3																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(2)|urinary_tract(1)	15						c.(1336-1338)gAg>gGg		inositol 1,3,4,5,6-pentakisphosphate 2-kinase							154	120	131					9																	95378253		2203	4300	6503	SO:0001583	missense	64768				inositol or phosphatidylinositol phosphorylation	cytoplasm|nucleus	ATP binding|inositol pentakisphosphate 2-kinase activity	g.chr9:95378253T>C	AK023225	CCDS6699.1	9q22.31	2010-12-02	2005-10-20	2005-10-20	ENSG00000127080	ENSG00000127080			14645	protein-coding gene	gene with protein product			"chromosome 9 open reading frame 12"	C9orf12		12084730	Standard	NM_022755		Approved	INSP5K2, FLJ13163, IP5K, IPK1	uc004asl.1	Q9H8X2	OTTHUMG00000020231	ENST00000287996.3:c.1337A>G	9.37:g.95378253T>C	ENSP00000287996:p.Glu446Gly					IPPK_ENST00000375522.1_Missense_Mutation_p.E118G|IPPK_ENST00000486841.1_5'UTR|CENPP_ENST00000375587.3_3'UTR	p.E446G	NM_022755.5	NP_073592.1	Q9H8X2	IPPK_HUMAN			13	1613	-			446					Q5T9F7|Q9H7V8	Missense_Mutation	SNP	ENST00000287996.3	37	c.1337A>G	CCDS6699.1	.	.	.	.	.	.	.	.	.	.	T	22.2	4.255206	0.80135	.	.	ENSG00000127080	ENST00000287996;ENST00000375522	T;T	0.32753	1.44;1.44	5.74	4.61	0.57282	.	0.049411	0.85682	D	0.000000	T	0.41743	0.1172	L	0.38531	1.155	0.53005	D	0.999968	D;D	0.64830	0.994;0.992	D;P	0.64595	0.927;0.874	T	0.20273	-1.0280	10	0.49607	T	0.09	-38.5208	11.7973	0.52108	0.0:0.0683:0.0:0.9317	.	446;145	Q9H8X2;B3KVX7	IPPK_HUMAN;.	G	446;118	ENSP00000287996:E446G;ENSP00000364672:E118G	ENSP00000287996:E446G	E	-	2	0	IPPK	94418074	1.000000	0.71417	0.986000	0.45419	0.865000	0.49528	6.570000	0.73996	1.128000	0.42052	0.533000	0.62120	GAG		0.498	IPPK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053101.1	NM_022755		6	39	0	0	0	1	0	6	39					C	95378253	T	C	95378253	3	2	405	1	0	0	0	0	1	0	0	0	7801	1551	54	4	142	4	IPPK	9	95378253	Missense_Mutation	SNP	T	TCGA-VN-A88P-01A-11D-A34U-08	89364892	95378253	45835178	28	19707											
DBC1	1620	broad.mit.edu	37	chr9	121930373	121930373	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccgcctatcacgcaggggatGgggcgctggcacagcgtggt	6	6	17	12	4	1	0	1	0	0	0	1	1	1	1	2	6	1	3	2	6	1	1			TCGA-VN-A88P-01A-11D-A34U-08	TCGA-VN-A88P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4265c8-5f60-4f71-8ade-cb73044fa524	afbadcf2-d858-478b-adda-23f04631ad78	g.chr9:121930373G>A	ENST00000265922.3	-	8	1736	c.1275C>T	c.(1273-1275)ccC>ccT	p.P425P	BRINP1_ENST00000482797.1_Intron	NM_014618.2	NP_055433.2	O60477	BRNP1_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 1	425					cell cycle arrest (GO:0007050)|cell death (GO:0008219)|cellular response to retinoic acid (GO:0071300)|negative regulation of cell cycle (GO:0045786)|negative regulation of mitotic cell cycle (GO:0045930)|positive regulation of neuron differentiation (GO:0045666)	cytoplasm (GO:0005737)											CGCAGGGGATGGGGCGCTGGC	0.607																																						ENST00000265922.3																			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(15)|liver(1)|lung(34)|ovary(3)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	83						c.(1273-1275)ccC>ccT									23	23	23					9																	121930373		2203	4300	6503	SO:0001819	synonymous_variant	0				cell cycle arrest|cell death	cytoplasm	protein binding	g.chr9:121930373G>A	AF027734	CCDS6822.1	9q32-q33	2013-08-06	2013-08-06	2013-07-31	ENSG00000078725	ENSG00000078725			2687	protein-coding gene	gene with protein product		602865	"deleted in bladder cancer chromosome region candidate 1", "deleted in bladder cancer 1"	DBCCR1, DBC1		9175739, 10444335, 15193422	Standard	NM_014618		Approved	FAM5A	uc004bkc.2	O60477	OTTHUMG00000021020	ENST00000265922.3:c.1275C>T	9.37:g.121930373G>A						DBC1_ENST00000482797.1_Intron	p.P425P	NM_014618.2	NP_055433.2	O60477	DBC1_HUMAN			8	1736	-			425					Q6IPV6|Q6P1A0|Q8WU22	Silent	SNP	ENST00000265922.3	37	c.1275C>T	CCDS6822.1																																																																																				0.607	BRINP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055440.2	NM_014618		7	13	0	0	0	1	0	7	13					A	121930373	G	A	121930373	2	1	405	1	0	0	0	0	0	0	0	1	4247	1335	47	3		3	DBC1	9	121930373	Silent	SNP	G	TCGA-VN-A88P-01A-11D-A34U-08	26552120	121930373	19283058	29	19708											
ANGPTL2	23452	broad.mit.edu	37	chr9	129870588	129870588	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ttgcggatgatctcgtgcagGagctgcatgtagagctgcgt	7	11	15	8	3	1	2	0	1	1	1	2	4	1	4	0	2	6	5	0	2	1	2			TCGA-VN-A88P-01A-11D-A34U-08	TCGA-VN-A88P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4265c8-5f60-4f71-8ade-cb73044fa524	afbadcf2-d858-478b-adda-23f04631ad78	g.chr9:129870588G>T	ENST00000373425.3	-	2	1040	c.423C>A	c.(421-423)ctC>ctA	p.L141L	RALGPS1_ENST00000373434.1_Intron|RALGPS1_ENST00000424082.2_Intron|ANGPTL2_ENST00000373417.1_Intron|RALGPS1_ENST00000373436.1_Intron|RALGPS1_ENST00000394022.3_Intron|ANGPTL2_ENST00000491991.1_5'Flank|RALGPS1_ENST00000259351.5_Intron	NM_012098.2	NP_036230.1	Q9UKU9	ANGL2_HUMAN	angiopoietin-like 2	141					multicellular organismal development (GO:0007275)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	receptor binding (GO:0005102)			breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)|urinary_tract(1)	18						TCTCGTGCAGGAGCTGCATGT	0.617																																						ENST00000373425.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)|urinary_tract(1)	18						c.(421-423)ctC>ctA		angiopoietin-like 2							56	50	52					9																	129870588		2203	4300	6503	SO:0001819	synonymous_variant	23452				multicellular organismal development|signal transduction	extracellular space	receptor binding	g.chr9:129870588G>T	AF125175	CCDS6868.1	9q34	2013-02-06			ENSG00000136859	ENSG00000136859		"Fibrinogen C domain containing"	490	protein-coding gene	gene with protein product		605001				10473614	Standard	NM_012098		Approved	ARP2, HARP	uc004bqr.1	Q9UKU9	OTTHUMG00000020695	ENST00000373425.3:c.423C>A	9.37:g.129870588G>T						RALGPS1_ENST00000373436.1_Intron|RALGPS1_ENST00000373434.1_Intron|ANGPTL2_ENST00000373417.1_Intron|RALGPS1_ENST00000394022.3_Intron|RALGPS1_ENST00000259351.5_Intron|RALGPS1_ENST00000424082.2_Intron	p.L141L	NM_012098.2	NP_036230.1	Q9UKU9	ANGL2_HUMAN			2	1040	-			141					Q5JT58|Q8NCH7	Silent	SNP	ENST00000373425.3	37	c.423C>A	CCDS6868.1																																																																																				0.617	ANGPTL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054129.1	NM_012098		28	28	1	0	1.39806e-14	1	1.54412e-14	28	28					T	129870588	G	T	129870588	2	4	405	1	0	0	0	0	0	0	0	1	614	1161	41	5		5	ANGPTL2	9	129870588	Silent	SNP	G	TCGA-VN-A88P-01A-11D-A34U-08	7940215	129870588	11342843	30	19709											
KIAA1462	57608	broad.mit.edu	37	chr10	30306821	30306821	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccggcatttcatcacaccctCtccactctgctagggtcata	8	11	6	16	1	5	0	3	0	2	0	6	0	5	0	3	2	1	2	3	2	2	3			TCGA-VN-A88P-01A-11D-A34U-08	TCGA-VN-A88P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4265c8-5f60-4f71-8ade-cb73044fa524	afbadcf2-d858-478b-adda-23f04631ad78	g.chr10:30306821C>G	ENST00000375377.1	-	4	4172	c.4071G>C	c.(4069-4071)gaG>gaC	p.E1357D		NM_020848.2	NP_065899.1	Q9P266	JCAD_HUMAN	KIAA1462	1357					cell adhesion (GO:0007155)	cell-cell junction (GO:0005911)				breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						ATCACACCCTCTCCACTCTGC	0.408																																						ENST00000375377.1																			0				breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						c.(4069-4071)gaG>gaC		KIAA1462							68	61	63					10																	30306821		1860	4097	5957	SO:0001583	missense	57608							g.chr10:30306821C>G	AB040895	CCDS41500.1	10p12.1	2013-04-23			ENSG00000165757	ENSG00000165757			29283	protein-coding gene	gene with protein product	"junctional protein associated with coronary artery disease"	614398				10819331, 21884682	Standard	NM_020848		Approved	JCAD	uc001iux.3	Q9P266	OTTHUMG00000017885	ENST00000375377.1:c.4071G>C	10.37:g.30306821C>G	ENSP00000364526:p.Glu1357Asp						p.E1357D	NM_020848.2	NP_065899.1	Q9P266	K1462_HUMAN			4	4172	-			1357					Q5HYA7|Q5T992|Q86WZ9|Q9BYJ2	Missense_Mutation	SNP	ENST00000375377.1	37	c.4071G>C	CCDS41500.1	.	.	.	.	.	.	.	.	.	.	C	17.41	3.382533	0.61845	.	.	ENSG00000165757	ENST00000375377	T	0.24723	1.84	5.84	3.83	0.44106	.	0.120606	0.53938	D	0.000046	T	0.41994	0.1183	M	0.61703	1.905	0.42825	D	0.994	D	0.89917	1.0	D	0.91635	0.999	T	0.32375	-0.9909	10	0.87932	D	0	-28.6799	4.7389	0.13003	0.0:0.3315:0.0:0.6685	.	1357	Q9P266	K1462_HUMAN	D	1357	ENSP00000364526:E1357D	ENSP00000364526:E1357D	E	-	3	2	KIAA1462	30346827	1.000000	0.71417	0.978000	0.43139	0.430000	0.31655	2.110000	0.41873	0.715000	0.32103	0.655000	0.94253	GAG		0.408	KIAA1462-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047409.1	NM_020848		11	32	0	0	0	1	0	11	32					G	30306821	C	G	30306821	3	3	405	1	0	0	0	0	1	0	0	0	8234	912	32	5	12	5	KIAA1462	10	30306821	Missense_Mutation	SNP	C	TCGA-VN-A88P-01A-11D-A34U-08		30306821	105227926	31	19710											
SORBS1	10580	broad.mit.edu	37	chr10	97074853	97074853	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttacatagttgcctggaaaaGtaccaaactgctttgtcctt	11	14	7	9	0	0	0	0	0	0	0	1	1	1	1	3	1	5	3	3	1	6	6			TCGA-VN-A88P-01A-11D-A34U-08	TCGA-VN-A88P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4265c8-5f60-4f71-8ade-cb73044fa524	afbadcf2-d858-478b-adda-23f04631ad78	g.chr10:97074853G>C	ENST00000361941.3	-	31	3868	c.3842C>G	c.(3841-3843)aCt>aGt	p.T1281S	SORBS1_ENST00000371227.4_Missense_Mutation_p.T1255S|SORBS1_ENST00000354106.3_Missense_Mutation_p.T993S|SORBS1_ENST00000371241.1_Missense_Mutation_p.T673S|SORBS1_ENST00000306402.6_Missense_Mutation_p.T770S|SORBS1_ENST00000371249.2_Missense_Mutation_p.T805S|SORBS1_ENST00000353505.5_Missense_Mutation_p.T894S|SORBS1_ENST00000607232.1_Missense_Mutation_p.T1283S|SORBS1_ENST00000277982.5_Missense_Mutation_p.T1140S|SORBS1_ENST00000371246.2_Missense_Mutation_p.T1140S|SORBS1_ENST00000393949.1_Missense_Mutation_p.T993S|SORBS1_ENST00000371247.2_Missense_Mutation_p.T1281S|SORBS1_ENST00000347291.4_Missense_Mutation_p.T835S|SORBS1_ENST00000371245.3_Missense_Mutation_p.T894S|SORBS1_ENST00000371239.1_Missense_Mutation_p.T800S	NM_001034954.1	NP_001030126			sorbin and SH3 domain containing 1											NS(1)|breast(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(19)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	42		Colorectal(252;0.0429)		Epithelial(162;1.7e-06)|all cancers(201;6.52e-05)		GCCTGGAAAAGTACCAAACTG	0.393																																						ENST00000371247.2																			0				NS(1)|breast(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(19)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	42						c.(3841-3843)aCt>aGt		sorbin and SH3 domain containing 1							87	87	87					10																	97074853		2202	4300	6502	SO:0001583	missense	10580				focal adhesion assembly|glucose transport|insulin receptor signaling pathway|muscle contraction|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of lipid biosynthetic process|stress fiber assembly	centrosome|cytosol|focal adhesion|membrane raft|nucleus|stress fiber|zonula adherens	actin binding|insulin receptor binding|SH3/SH2 adaptor activity	g.chr10:97074853G>C	AF136381	CCDS7442.1, CCDS31252.1, CCDS31253.1, CCDS31254.1, CCDS31255.1, CCDS31256.1, CCDS73169.1	10q23.33	2011-07-25	2002-05-08		ENSG00000095637	ENSG00000095637			14565	protein-coding gene	gene with protein product	"c-Cbl-associated protein"	605264	"SH3-domain protein 5 (ponsin)"	SH3D5		10085297, 11001060	Standard	XM_005269405		Approved	FLJ12406, CAP, sh3p12, ponsin, KIAA1296	uc001kkp.3	Q9BX66	OTTHUMG00000018812	ENST00000361941.3:c.3842C>G	10.37:g.97074853G>C	ENSP00000355136:p.Thr1281Ser					SORBS1_ENST00000371239.1_Missense_Mutation_p.T800S|SORBS1_ENST00000353505.5_Missense_Mutation_p.T894S|SORBS1_ENST00000277982.5_Missense_Mutation_p.T1140S|SORBS1_ENST00000393949.1_Missense_Mutation_p.T993S|SORBS1_ENST00000354106.3_Missense_Mutation_p.T993S|SORBS1_ENST00000347291.4_Missense_Mutation_p.T835S|SORBS1_ENST00000306402.6_Missense_Mutation_p.T770S|SORBS1_ENST00000371249.2_Missense_Mutation_p.T805S|SORBS1_ENST00000371241.1_Missense_Mutation_p.T673S|SORBS1_ENST00000371227.4_Missense_Mutation_p.T1255S|SORBS1_ENST00000371245.3_Missense_Mutation_p.T894S|SORBS1_ENST00000371246.2_Missense_Mutation_p.T1140S|SORBS1_ENST00000607232.1_Missense_Mutation_p.T1283S|SORBS1_ENST00000361941.3_Missense_Mutation_p.T1281S	p.T1281S			Q9BX66	SRBS1_HUMAN		Epithelial(162;1.7e-06)|all cancers(201;6.52e-05)	33	4031	-		Colorectal(252;0.0429)	1281			SH3 3.			Missense_Mutation	SNP	ENST00000361941.3	37	c.3842C>G	CCDS31255.1	.	.	.	.	.	.	.	.	.	.	G	29.9	5.042585	0.93685	.	.	ENSG00000095637	ENST00000371245;ENST00000306402;ENST00000371249;ENST00000371247;ENST00000371227;ENST00000371246;ENST00000393949;ENST00000353505;ENST00000347291;ENST00000361941;ENST00000277982;ENST00000371241;ENST00000354106;ENST00000371239	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.47177	1.57;0.85;0.85;1.57;1.57;1.57;0.85;1.57;0.85;1.57;1.57;0.85;0.85;0.85	5.81	5.81	0.92471	Src homology-3 domain (4);	0.000000	0.40064	N	0.001185	T	0.52917	0.1764	N	0.10664	0.02	0.80722	D	1	D;D;D;D;D;D;D;D;D;D;D;D	0.76494	0.96;0.998;0.976;0.999;0.997;0.999;0.998;0.999;0.998;0.999;0.999;0.998	P;D;D;D;D;D;D;D;D;D;D;D	0.87578	0.841;0.995;0.923;0.998;0.96;0.99;0.998;0.997;0.994;0.991;0.994;0.983	T	0.63497	-0.6624	10	0.72032	D	0.01	-13.4054	20.081	0.97775	0.0:0.0:1.0:0.0	.	738;1255;805;770;673;800;894;1281;1140;835;993;537	B4DTX5;Q9BX66-11;Q9BX66-10;Q9BX66-9;Q9BX66-4;Q9BX66-8;Q9BX66-3;Q9BX66;Q9BX66-2;Q9BX66-6;Q9BX66-5;Q6MZY5	.;.;.;.;.;.;.;SRBS1_HUMAN;.;.;.;.	S	894;770;805;1281;1255;1140;993;894;835;1281;1140;673;993;800	ENSP00000360291:T894S;ENSP00000302556:T770S;ENSP00000360295:T805S;ENSP00000360293:T1281S;ENSP00000360271:T1255S;ENSP00000360292:T1140S;ENSP00000377521:T993S;ENSP00000343998:T894S;ENSP00000277985:T835S;ENSP00000355136:T1281S;ENSP00000277982:T1140S;ENSP00000360285:T673S;ENSP00000277984:T993S;ENSP00000360283:T800S	ENSP00000277982:T1140S	T	-	2	0	SORBS1	97064843	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.426000	0.97469	2.753000	0.94483	0.555000	0.69702	ACT		0.393	SORBS1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049517.1			19	36	0	0	0	1	0	19	36					C	97074853	G	C	97074853	3	2	405	1	0	0	0	0	1	0	0	0	14927	1029	36	5	40	5	SORBS1	10	97074853	Missense_Mutation	SNP	G	TCGA-VN-A88P-01A-11D-A34U-08	66768032	97074853	38459894	32	19711											
NSMCE4A	54780	broad.mit.edu	37	chr10	123720979	123720979	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaagatgttttccactgtacGggggaaagaatgaggatcaa	15	9	12	5	1	1	3	1	1	0	2	2	5	2	5	1	3	1	2	1	3	5	3	rs201293057		TCGA-VN-A88P-01A-11D-A34U-08	TCGA-VN-A88P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4265c8-5f60-4f71-8ade-cb73044fa524	afbadcf2-d858-478b-adda-23f04631ad78	g.chr10:123720979G>A	ENST00000369023.3	-	7	949	c.898C>T	c.(898-900)Cgt>Tgt	p.R300C	NSMCE4A_ENST00000538652.1_Missense_Mutation_p.R141C|NSMCE4A_ENST00000489266.1_5'UTR	NM_001167865.1|NM_017615.2	NP_001161337.1|NP_060085.2	Q9NXX6	NSE4A_HUMAN	non-SMC element 4 homolog A (S. cerevisiae)	300					DNA recombination (GO:0006310)|DNA repair (GO:0006281)|positive regulation of response to DNA damage stimulus (GO:2001022)	chromosome, telomeric region (GO:0000781)|nucleus (GO:0005634)|Smc5-Smc6 complex (GO:0030915)				breast(2)|endometrium(1)|large_intestine(1)|lung(1)|prostate(1)	6		all_neural(114;0.138)|Glioma(114;0.222)				TCCACTGTACGGGGGAAAGAA	0.313																																						ENST00000538652.1																			0				breast(2)|endometrium(1)|large_intestine(1)|lung(1)|prostate(1)	6						c.(421-423)Cgt>Tgt		non-SMC element 4 homolog A (S. cerevisiae)							51	52	52					10																	123720979		2203	4300	6503	SO:0001583	missense	54780							g.chr10:123720979G>A	AF258584	CCDS7624.1	10q26.13	2007-05-17	2006-11-24	2006-11-24	ENSG00000107672	ENSG00000107672			25935	protein-coding gene	gene with protein product		612987	"chromosome 10 open reading frame 86"	C10orf86		15752197	Standard	NM_017615		Approved	FLJ20003, bA500G22.3, NSE4A	uc001lfs.3	Q9NXX6	OTTHUMG00000019180	ENST00000369023.3:c.898C>T	10.37:g.123720979G>A	ENSP00000358019:p.Arg300Cys					NSMCE4A_ENST00000369023.3_Missense_Mutation_p.R300C|NSMCE4A_ENST00000489266.1_5'UTR	p.R141C			Q9NXX6	NSE4A_HUMAN			7	1058	-		all_neural(114;0.138)|Glioma(114;0.222)	300					Q5SQQ5|Q6P673|Q8WY66|Q9BS90	Missense_Mutation	SNP	ENST00000369023.3	37	c.421C>T	CCDS7624.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	22.6	4.308486	0.81247	.	.	ENSG00000107672	ENST00000369023;ENST00000538652	T	0.48836	0.8	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	T	0.68824	0.3043	M	0.79475	2.455	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.71563	-0.4555	10	0.87932	D	0	-14.5453	13.7408	0.62847	0.0:0.0:0.846:0.154	.	141;300	B4DWS2;Q9NXX6	.;NSE4A_HUMAN	C	300;141	ENSP00000358019:R300C	ENSP00000358019:R300C	R	-	1	0	NSMCE4A	123710969	1.000000	0.71417	0.997000	0.53966	0.997000	0.91878	5.744000	0.68664	2.822000	0.97130	0.650000	0.86243	CGT		0.313	NSMCE4A-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050749.1	NM_017615		10	44	0	0	0	1	0	10	44					A	123720979	G	A	123720979	3	1	405	1	0	0	0	0	1	0	0	0	10677	1116	39	2	275	2	NSMCE4A	10	123720979	Missense_Mutation	SNP	G	TCGA-VN-A88P-01A-11D-A34U-08	26646126	123720979	11813768	33	19712											
RNF214	257160	broad.mit.edu	37	chr11	117152031	117152031	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgttggtttcttgaaaggTcaactcccccaacactggag	9	11	9	12	0	2	1	1	1	1	0	3	2	3	2	3	3	2	2	3	3	3	3			TCGA-VN-A88P-01A-11D-A34U-08	TCGA-VN-A88P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4265c8-5f60-4f71-8ade-cb73044fa524	afbadcf2-d858-478b-adda-23f04631ad78	g.chr11:117152031T>C	ENST00000531452.1	+	9	1193	c.1147T>C	c.(1147-1149)Tca>Cca	p.S383P	RNF214_ENST00000530849.1_Splice_Site_p.S228P|RNF214_ENST00000531287.1_Splice_Site_p.S228P|RNF214_ENST00000300650.4_Splice_Site_p.S383P	NM_001077239.1|NM_001278249.1	NP_001070707.1|NP_001265178.1	Q8ND24	RN214_HUMAN	ring finger protein 214	383							zinc ion binding (GO:0008270)			cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	23	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.88e-05)|Epithelial(105;0.000397)|all cancers(92;0.00258)		TCTTGAAAGGTCAACTCCCCC	0.473																																						ENST00000530849.1																			0				cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	23						c.e8-1		ring finger protein 214							105	98	100					11																	117152031		1880	4114	5994	SO:0001630	splice_region_variant	257160						zinc ion binding	g.chr11:117152031T>C	AL834448	CCDS41720.1, CCDS60976.1	11q23.3	2014-02-12	2007-02-16		ENSG00000167257	ENSG00000167257		"RING-type (C3HC4) zinc fingers"	25335	protein-coding gene	gene with protein product							Standard	NM_001077239		Approved	DKFZp547C195	uc001pqt.4	Q8ND24	OTTHUMG00000167069	ENST00000531452.1:c.1146-1T>C	11.37:g.117152031T>C						RNF214_ENST00000531287.1_Splice_Site_p.S228_splice|RNF214_ENST00000531452.1_Splice_Site_p.S383_splice|RNF214_ENST00000300650.4_Splice_Site_p.S383_splice	p.S228_splice			Q8ND24	RN214_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.88e-05)|Epithelial(105;0.000397)|all cancers(92;0.00258)	8	692	+	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)	383					B2RUW0|B4DTD1	Splice_Site	SNP	ENST00000531452.1	37	c.680_splice	CCDS41720.1	.	.	.	.	.	.	.	.	.	.	T	22.4	4.282832	0.80692	.	.	ENSG00000167257	ENST00000531287;ENST00000531452;ENST00000530849;ENST00000300650	T;T;D;T	0.94897	-0.61;1.09;-3.55;1.09	5.92	5.92	0.95590	.	0.225189	0.39759	N	0.001265	D	0.95940	0.8678	L	0.57536	1.79	0.80722	D	1	D;D	0.62365	0.978;0.991	P;D	0.64144	0.889;0.922	D	0.95675	0.8727	10	0.49607	T	0.09	-5.5436	14.1057	0.65088	0.0:0.0:0.0:1.0	.	228;383	B4DTD1;Q8ND24	.;RN214_HUMAN	P	228;383;228;383	ENSP00000435361:S228P;ENSP00000431643:S383P;ENSP00000432903:S228P;ENSP00000300650:S383P	ENSP00000300650:S383P	S	+	1	0	RNF214	116657241	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	4.652000	0.61454	2.263000	0.75096	0.533000	0.62120	TCA		0.473	RNF214-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392884.1	NM_001077239	Missense_Mutation	7	33	0	0	0	1	0	7	33					C	117152031	T	C	117152031	5	2	405	1	0	0	0	0	0	0	1	0	13478	1681	58	4	1177	4	RNF214	11	117152031	Splice_Site	SNP	T	TCGA-VN-A88P-01A-11D-A34U-08		117152031	17854485	34	19713											
ITPR2	3709	broad.mit.edu	37	chr12	26640135	26640135	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttcgatcatagagaactttaAagaatttttctgactttttt	12	19	5	5	1	2	3	1	1	1	2	3	5	2	3	0	0	1	0	0	0	5	9			TCGA-VN-A88P-01A-11D-A34U-08	TCGA-VN-A88P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4265c8-5f60-4f71-8ade-cb73044fa524	afbadcf2-d858-478b-adda-23f04631ad78	g.chr12:26640135A>T	ENST00000381340.3	-	40	5836	c.5420T>A	c.(5419-5421)tTt>tAt	p.F1807Y		NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	1807					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|cellular response to cAMP (GO:0071320)|cellular response to ethanol (GO:0071361)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|regulation of insulin secretion (GO:0050796)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	cell cortex (GO:0005938)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|receptor complex (GO:0043235)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion transmembrane transporter activity (GO:0015085)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|phosphatidylinositol binding (GO:0035091)		ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)				Caffeine(DB00201)	GAGAACTTTAAAGAATTTTTC	0.343																																						ENST00000381340.3																		ETV6/ITPR2(2)	0				biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125						c.(5419-5421)tTt>tAt		inositol 1,4,5-trisphosphate receptor, type 2							79	72	74					12																	26640135		1794	4073	5867	SO:0001583	missense	3709				activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity	g.chr12:26640135A>T	D26350	CCDS41764.1	12p11.23	2014-07-18	2011-04-28		ENSG00000123104	ENSG00000123104		"Ion channels / Inositol triphosphate receptors"	6181	protein-coding gene	gene with protein product	"cilia and flagella associated protein 48"	600144	"inositol 1,4,5-triphosphate receptor, type 2"			8081734	Standard	XM_006719064		Approved	IP3R2, CFAP48	uc001rhg.3	Q14571	OTTHUMG00000169181	ENST00000381340.3:c.5420T>A	12.37:g.26640135A>T	ENSP00000370744:p.Phe1807Tyr						p.F1807Y	NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN			40	5836	-	Colorectal(261;0.0847)		1807					O94773	Missense_Mutation	SNP	ENST00000381340.3	37	c.5420T>A	CCDS41764.1	.	.	.	.	.	.	.	.	.	.	A	28.0	4.880438	0.91740	.	.	ENSG00000123104	ENST00000381340	D	0.94758	-3.51	5.1	5.1	0.69264	.	0.000000	0.85682	D	0.000000	D	0.97414	0.9154	M	0.86343	2.81	0.80722	D	1	D	0.69078	0.997	D	0.83275	0.996	D	0.98254	1.0495	10	0.87932	D	0	.	15.0587	0.71936	1.0:0.0:0.0:0.0	.	1807	Q14571	ITPR2_HUMAN	Y	1807	ENSP00000370744:F1807Y	ENSP00000370744:F1807Y	F	-	2	0	ITPR2	26531402	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.071000	0.93980	2.147000	0.66899	0.528000	0.53228	TTT		0.343	ITPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402732.1	NM_002223		7	69	0	0	0	1	0	7	69					T	26640135	A	T	26640135	3	4	405	1	0	0	0	0	1	0	0	0	7921	14	1	5	2757	5	ITPR2	12	26640135	Missense_Mutation	SNP	A	TCGA-VN-A88P-01A-11D-A34U-08		26640135	107211760	35	19714											
MLL2	8085	broad.mit.edu	37	chr12	49440431	49440431	+	Frame_Shift_Del	DEL	G	G	-																															ccttggggacggtgagcagtGgggggtccaggcagtatgtg																										TCGA-VN-A88P-01A-11D-A34U-08	TCGA-VN-A88P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4265c8-5f60-4f71-8ade-cb73044fa524	afbadcf2-d858-478b-adda-23f04631ad78	g.chr12:49440431delG	ENST00000301067.7	-	15	4378	c.4379delC	c.(4378-4380)ccafs	p.P1460fs		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	1460	Cys-rich.				chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)										GGTGAGCAGTGGGGGGTCCAG	0.562																																						ENST00000301067.7																			0											c.(4378-4380)cafs		lysine (K)-specific methyltransferase 2D							95	101	99					12																	49440431		2046	4184	6230	SO:0001589	frameshift_variant	8085							g.chr12:49440431delG	AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	7133	protein-coding gene	gene with protein product		602113	"trinucleotide repeat containing 21", "myeloid/lymphoid or mixed-lineage leukemia 2"	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.4379delC	12.37:g.49440431delG	ENSP00000301067:p.Pro1460fs						p.P1460fs	NM_003482.3	NP_003473.3					15	4378	-								O14687	Frame_Shift_Del	DEL	ENST00000301067.7	37	c.4379delC	CCDS44873.1																																																																																				0.562	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2			48	91						48	91	---	---	---	---	-	49440431	G	-	49440431	7	5	405	1	0	1	0	1	0	0	0	0	9621	1348	47	0	12394	0	MLL2	12	49440431	Frame_Shift_Del	DEL	G	TCGA-VN-A88P-01A-11D-A34U-08	22800296	49440431	84411464	36	19715											
ACCN2	41	broad.mit.edu	37	chr12	50473744	50473744	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aaatgccttgcaacctgaccCgctatggcaaagagctgtcc	11	8	9	13	1	0	2	0	1	0	1	1	2	1	2	4	1	4	4	4	1	4	2			TCGA-VN-A88P-01A-11D-A34U-08	TCGA-VN-A88P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4265c8-5f60-4f71-8ade-cb73044fa524	afbadcf2-d858-478b-adda-23f04631ad78	g.chr12:50473744C>T	ENST00000447966.2	+	8	1340	c.1111C>T	c.(1111-1113)Cgc>Tgc	p.R371C	ASIC1_ENST00000228468.4_Missense_Mutation_p.R371C|ASIC1_ENST00000552438.1_Missense_Mutation_p.R405C	NM_001095.3	NP_001086.2	P78348	ASIC1_HUMAN	acid-sensing (proton-gated) ion channel 1	371					associative learning (GO:0008306)|calcium ion transmembrane transport (GO:0070588)|cellular response to pH (GO:0071467)|ion transmembrane transport (GO:0034220)|memory (GO:0007613)|negative regulation of neurotransmitter secretion (GO:0046929)|protein homotrimerization (GO:0070207)|regulation of membrane potential (GO:0042391)|response to acidic pH (GO:0010447)|response to pH (GO:0009268)|sensory perception of sour taste (GO:0050915)|signal transduction (GO:0007165)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|synapse (GO:0045202)	acid-sensing ion channel activity (GO:0044736)|ion gated channel activity (GO:0022839)|ligand-gated sodium channel activity (GO:0015280)									Amiloride(DB00594)|Diclofenac(DB00586)	CAACCTGACCCGCTATGGCAA	0.532																																						ENST00000228468.4																			0											c.(1111-1113)Cgc>Tgc		acid-sensing (proton-gated) ion channel 1	Amiloride(DB00594)						172	144	154					12																	50473744		2203	4300	6503	SO:0001583	missense	41				calcium ion transport|response to pH|signal transduction	integral to plasma membrane	ligand-gated sodium channel activity|protein binding	g.chr12:50473744C>T	U78181	CCDS8796.1, CCDS44876.1, CCDS58228.1	12q12	2012-02-23	2012-02-22	2012-02-22		ENSG00000110881		"Ion channels / Acid-sensing (proton-gated) ion channels"	100	protein-coding gene	gene with protein product		602866	"amiloride-sensitive cation channel 2, neuronal"	ACCN2		9037075	Standard	NM_001095		Approved	BNaC2, hBNaC2	uc001rvv.4	P78348	OTTHUMG00000169812	ENST00000447966.2:c.1111C>T	12.37:g.50473744C>T	ENSP00000400228:p.Arg371Cys					ASIC1_ENST00000552438.1_Missense_Mutation_p.R405C|ASIC1_ENST00000447966.2_Missense_Mutation_p.R371C	p.R371C	NM_020039.3	NP_064423.2	P78348	ACCN2_HUMAN			8	1496	+			371					A3KN86|E5KBL7|P78349|Q96CV2	Missense_Mutation	SNP	ENST00000447966.2	37	c.1111C>T	CCDS44876.1	.	.	.	.	.	.	.	.	.	.	C	24.9	4.583511	0.86748	.	.	ENSG00000110881	ENST00000228468;ENST00000447966;ENST00000552438	T;T;T	0.66638	-0.22;-0.22;-0.22	4.74	4.74	0.60224	.	0.236119	0.42682	D	0.000662	D	0.86230	0.5883	M	0.92833	3.35	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.996	D	0.89603	0.3836	10	0.87932	D	0	-32.5594	18.3016	0.90165	0.0:1.0:0.0:0.0	.	371;371	P78348;P78348-1	ACCN2_HUMAN;.	C	371;371;405	ENSP00000228468:R371C;ENSP00000400228:R371C;ENSP00000450247:R405C	ENSP00000228468:R371C	R	+	1	0	ACCN2	48760011	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.632000	0.61311	2.653000	0.90120	0.561000	0.74099	CGC		0.532	ASIC1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406004.2	NM_020039		4	115	0	0	0	1	0	4	115					T	50473744	C	T	50473744	3	4	405	1	0	0	0	0	1	0	0	0	129	652	23	2	1137	2	ACCN2	12	50473744	Missense_Mutation	SNP	C	TCGA-VN-A88P-01A-11D-A34U-08	1033313	50473744	83378151	37	19716											
AVPR1A	552	broad.mit.edu	37	chr12	63543962	63543962	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaagatgccgcccgtcatccAggtcacgtaggcacgagaac	12	5	11	13	4	2	2	2	0	0	2	3	3	3	2	3	2	2	2	3	2	3	1			TCGA-VN-A88P-01A-11D-A34U-08	TCGA-VN-A88P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4265c8-5f60-4f71-8ade-cb73044fa524	afbadcf2-d858-478b-adda-23f04631ad78	g.chr12:63543962A>T	ENST00000299178.2	-	1	760	c.655T>A	c.(655-657)Tgg>Agg	p.W219R		NM_000706.4	NP_000697.1	P37288	V1AR_HUMAN	arginine vasopressin receptor 1A	219					activation of phospholipase C activity (GO:0007202)|blood circulation (GO:0008015)|calcium-mediated signaling (GO:0019722)|cellular response to water deprivation (GO:0042631)|G-protein coupled receptor signaling pathway (GO:0007186)|generation of precursor metabolites and energy (GO:0006091)|grooming behavior (GO:0007625)|maternal aggressive behavior (GO:0002125)|maternal behavior (GO:0042711)|myotube differentiation (GO:0014902)|negative regulation of female receptivity (GO:0007621)|negative regulation of transmission of nerve impulse (GO:0051970)|penile erection (GO:0043084)|positive regulation of cell growth (GO:0030307)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cellular pH reduction (GO:0032849)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of glutamate secretion (GO:0014049)|positive regulation of heart rate (GO:0010460)|positive regulation of prostaglandin biosynthetic process (GO:0031394)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of systemic arterial blood pressure (GO:0003084)|positive regulation of vasoconstriction (GO:0045907)|regulation of systemic arterial blood pressure by vasopressin (GO:0001992)|response to corticosterone (GO:0051412)|social behavior (GO:0035176)|sperm ejaculation (GO:0042713)|telencephalon development (GO:0021537)	cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	peptide hormone binding (GO:0017046)|protein kinase C binding (GO:0005080)|vasopressin receptor activity (GO:0005000)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(12)|prostate(2)|skin(1)	26			BRCA - Breast invasive adenocarcinoma(9;0.193)	GBM - Glioblastoma multiforme(28;0.0569)	Conivaptan(DB00872)|Desmopressin(DB00035)|Felypressin(DB00093)|Terlipressin(DB02638)|Tolvaptan(DB06212)|Vasopressin(DB00067)	CCCGTCATCCAGGTCACGTAG	0.597																																						ENST00000299178.2																			0				central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(12)|prostate(2)|skin(1)	26						c.(655-657)Tgg>Agg		arginine vasopressin receptor 1A	Conivaptan(DB00872)|Desmopressin(DB00035)|Felypressin(DB00093)|Terlipressin(DB02638)|Vasopressin(DB00067)						63	66	65					12																	63543962		2203	4300	6503	SO:0001583	missense	0				activation of phospholipase C activity|elevation of cytosolic calcium ion concentration|generation of precursor metabolites and energy	endosome|integral to plasma membrane	protein kinase C binding|vasopressin receptor activity	g.chr12:63543962A>T	L25615	CCDS8965.1	12q14-q15	2012-08-08				ENSG00000166148		"GPCR / Class A : Vasopressin and oxytocin receptors"	895	protein-coding gene	gene with protein product		600821		AVPR1		8106369	Standard	NM_000706		Approved		uc001sro.2	P37288		ENST00000299178.2:c.655T>A	12.37:g.63543962A>T	ENSP00000299178:p.Trp219Arg						p.W219R	NM_000706.4	NP_000697.1	P37288	V1AR_HUMAN	BRCA - Breast invasive adenocarcinoma(9;0.193)	GBM - Glioblastoma multiforme(28;0.0569)	1	760	-			219						Missense_Mutation	SNP	ENST00000299178.2	37	c.655T>A	CCDS8965.1	.	.	.	.	.	.	.	.	.	.	A	21.5	4.157781	0.78114	.	.	ENSG00000166148	ENST00000299178	T	0.37058	1.22	5.29	5.29	0.74685	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.70081	0.3183	H	0.94264	3.515	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.79685	-0.1700	9	.	.	.	-9.501	14.4082	0.67096	1.0:0.0:0.0:0.0	.	219	P37288	V1AR_HUMAN	R	219	ENSP00000299178:W219R	.	W	-	1	0	AVPR1A	61830229	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.178000	0.94855	1.995000	0.58328	0.374000	0.22700	TGG		0.597	AVPR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406734.1			4	142	0	0	0	1	0	4	142					T	63543962	A	T	63543962	3	4	405	1	0	0	0	0	1	0	0	0	1231	188	7	5	609	5	AVPR1A	12	63543962	Missense_Mutation	SNP	A	TCGA-VN-A88P-01A-11D-A34U-08	13070218	63543962	70307933	38	19717											
DNAH10	196385	broad.mit.edu	37	chr12	124297927	124297927	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	atcgacctctctggaaattgGacaaagctattgtgatggag	12	11	11	7	1	1	1	0	1	1	0	3	5	1	4	1	3	1	1	1	3	3	3			TCGA-VN-A88P-01A-11D-A34U-08	TCGA-VN-A88P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4265c8-5f60-4f71-8ade-cb73044fa524	afbadcf2-d858-478b-adda-23f04631ad78	g.chr12:124297927G>A	ENST00000409039.3	+	19	3032	c.3007G>A	c.(3007-3009)Gac>Aac	p.D1003N		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	1003	Stem. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		CTGGAAATTGGACAAAGCTAT	0.388																																						ENST00000409039.3																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52						c.(3007-3009)Gac>Aac		dynein, axonemal, heavy chain 10							140	136	137					12																	124297927		2203	4300	6503	SO:0001583	missense	196385				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr12:124297927G>A	AJ132089	CCDS9255.2	12q24	2008-02-05	2006-09-04		ENSG00000197653	ENSG00000197653		"Axonemal dyneins"	2941	protein-coding gene	gene with protein product		605884	"dynein, axonemal, heavy polypeptide 10"				Standard	NM_207437		Approved	FLJ43808	uc001uft.4	Q8IVF4	OTTHUMG00000154477	ENST00000409039.3:c.3007G>A	12.37:g.124297927G>A	ENSP00000386770:p.Asp1003Asn						p.D1003N	NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)	19	3032	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		1003			Stem (By similarity).		C9JMF5|O95495|Q6ZUC9|Q6ZUP6|Q8N761	Missense_Mutation	SNP	ENST00000409039.3	37	c.3007G>A	CCDS9255.2	.	.	.	.	.	.	.	.	.	.	G	22.8	4.340058	0.81911	.	.	ENSG00000197653	ENST00000409039	T	0.23950	1.88	5.83	5.83	0.93111	.	0.156674	0.41396	D	0.000881	T	0.53594	0.1806	M	0.75447	2.3	0.58432	D	0.999991	D;D;P	0.89917	1.0;1.0;0.714	D;D;B	0.81914	0.995;0.992;0.414	T	0.42565	-0.9444	10	0.35671	T	0.21	.	20.1374	0.98035	0.0:0.0:1.0:0.0	.	1003;878;1003	Q8IVF4-2;C4IXU6;Q8IVF4	.;.;DYH10_HUMAN	N	1003	ENSP00000386770:D1003N	ENSP00000386770:D1003N	D	+	1	0	DNAH10	122863880	1.000000	0.71417	1.000000	0.80357	0.922000	0.55478	6.490000	0.73645	2.763000	0.94921	0.563000	0.77884	GAC		0.388	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335420.3			19	122	0	0	0	1	0	19	122					A	124297927	G	A	124297927	3	1	405	1	0	0	0	0	1	0	0	0	4598	1174	41	3	3081	3	DNAH10	12	124297927	Missense_Mutation	SNP	G	TCGA-VN-A88P-01A-11D-A34U-08	60753965	124297927	9553968	39	19718											
PIWIL1	9271	broad.mit.edu	37	chr12	130840152	130840152	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggtttgagctttgattccaaCttactgtccttctcaggaag	8	15	9	9	0	1	2	1	2	1	0	4	3	3	3	2	2	3	2	2	2	3	5			TCGA-VN-A88P-01A-11D-A34U-08	TCGA-VN-A88P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4265c8-5f60-4f71-8ade-cb73044fa524	afbadcf2-d858-478b-adda-23f04631ad78	g.chr12:130840152C>A	ENST00000245255.3	+	12	1616	c.1344C>A	c.(1342-1344)aaC>aaA	p.N448K		NM_001190971.1|NM_004764.4	NP_001177900.1|NP_004755.2	Q96J94	PIWL1_HUMAN	piwi-like RNA-mediated gene silencing 1	448					gene silencing by RNA (GO:0031047)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|piRNA metabolic process (GO:0034587)|regulation of translation (GO:0006417)|spermatid development (GO:0007286)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|mRNA cap binding complex (GO:0005845)|P granule (GO:0043186)|polysome (GO:0005844)	mRNA binding (GO:0003729)|piRNA binding (GO:0034584)|single-stranded RNA binding (GO:0003727)			breast(6)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(26)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	57	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;3.02e-06)|Epithelial(86;3.85e-05)|all cancers(50;4.65e-05)		TTGATTCCAACTTACTGTCCT	0.388																																						ENST00000245255.3																			0				breast(6)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(26)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	57						c.(1342-1344)aaC>aaA		piwi-like RNA-mediated gene silencing 1							191	203	199					12																	130840152		2203	4300	6503	SO:0001583	missense	9271				gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatid development	chromatoid body|P granule	mRNA binding|piRNA binding|protein binding	g.chr12:130840152C>A	AF104260	CCDS9268.1	12q24.33	2014-01-21	2013-02-15		ENSG00000125207	ENSG00000125207		"Argonaute/PIWI family"	9007	protein-coding gene	gene with protein product		605571	"piwi (Drosophila)-like 1", "piwi-like 1 (Drosophila)"			9851978, 12906857	Standard	NM_004764		Approved	PIWI, HIWI, CT80.1	uc001uik.3	Q96J94	OTTHUMG00000168382	ENST00000245255.3:c.1344C>A	12.37:g.130840152C>A	ENSP00000245255:p.Asn448Lys						p.N448K	NM_001190971.1|NM_004764.4	NP_001177900.1|NP_004755.2	Q96J94	PIWL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.02e-06)|Epithelial(86;3.85e-05)|all cancers(50;4.65e-05)	12	1616	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		448					A4F266|O95404|Q8NA60|Q8TBY5|Q96JD5	Missense_Mutation	SNP	ENST00000245255.3	37	c.1344C>A	CCDS9268.1	.	.	.	.	.	.	.	.	.	.	C	9.321	1.057997	0.19987	.	.	ENSG00000125207	ENST00000245255	T	0.08720	3.06	5.48	2.67	0.31697	Ribonuclease H-like (1);	0.440474	0.28572	N	0.014878	T	0.03263	0.0095	N	0.12569	0.235	0.28239	N	0.925776	B;B	0.11235	0.004;0.003	B;B	0.09377	0.004;0.004	T	0.43180	-0.9407	10	0.06494	T	0.89	-7.712	4.2462	0.10672	0.2611:0.5068:0.0:0.2322	.	448;448	Q96J94;Q96J94-2	PIWL1_HUMAN;.	K	448	ENSP00000245255:N448K	ENSP00000245255:N448K	N	+	3	2	PIWIL1	129406105	0.699000	0.27786	0.991000	0.47740	0.994000	0.84299	-0.279000	0.08479	0.687000	0.31509	0.650000	0.86243	AAC		0.388	PIWIL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399510.1			57	114	1	0	1.4709e-25	1	1.67456e-25	57	114					A	130840152	C	A	130840152	3	1	405	1	0	0	0	0	1	0	0	0	11957	564	20	5	1386	5	PIWIL1	12	130840152	Missense_Mutation	SNP	C	TCGA-VN-A88P-01A-11D-A34U-08	6542225	130840152	3011743	40	19719											
COL4A2	1284	broad.mit.edu	37	chr13	111117853	111117853	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cccccaggactgggccttccCggcctcaaaggccaacgtgg	7	5	12	17	2	1	0	1	0	0	0	2	1	2	1	6	5	1	0	6	5	2	1			TCGA-VN-A88P-01A-11D-A34U-08	TCGA-VN-A88P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4265c8-5f60-4f71-8ade-cb73044fa524	afbadcf2-d858-478b-adda-23f04631ad78	g.chr13:111117853C>T	ENST00000360467.5	+	25	2184	c.1878C>T	c.(1876-1878)ccC>ccT	p.P626P	COL4A2-AS2_ENST00000458403.2_RNA	NM_001846.2	NP_001837.2	P08572	CO4A2_HUMAN	collagen, type IV, alpha 2	626	Triple-helical region.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|cellular response to transforming growth factor beta stimulus (GO:0071560)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of angiogenesis (GO:0016525)|transcription, DNA-templated (GO:0006351)	collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)	extracellular matrix structural constituent (GO:0005201)			NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	80	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)			TGGGCCTTCCCGGCCTCAAAG	0.642																																						ENST00000360467.5																			0				NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						c.(1876-1878)ccC>ccT		collagen, type IV, alpha 2							35	39	38					13																	111117853		1824	4081	5905	SO:0001819	synonymous_variant	1284				angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis	collagen type IV	extracellular matrix structural constituent|protein binding	g.chr13:111117853C>T	AK025912	CCDS41907.1	13q34	2013-09-05			ENSG00000134871	ENSG00000134871		"Collagens"	2203	protein-coding gene	gene with protein product	"canstatin", "collagen type IV alpha 2"	120090				2439508, 3025878	Standard	NM_001846		Approved	FLJ22259, DKFZp686I14213	uc001vqx.3	P08572	OTTHUMG00000017344	ENST00000360467.5:c.1878C>T	13.37:g.111117853C>T							p.P626P	NM_001846.2	NP_001837.2	P08572	CO4A2_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)		25	2184	+	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	626			Triple-helical region.		Q14052|Q548C3|Q5VZA9|Q66K23	Silent	SNP	ENST00000360467.5	37	c.1878C>T	CCDS41907.1																																																																																				0.642	COL4A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045761.2	NM_001846		4	35	0	0	0	1	0	4	35					T	111117853	C	T	111117853	2	4	405	1	0	0	0	0	0	0	0	1	3690	639	23	2		2	COL4A2	13	111117853	Silent	SNP	C	TCGA-VN-A88P-01A-11D-A34U-08		111117853	4052025	41	19720											
KIAA1409	57578	broad.mit.edu	37	chr14	93994973	93994973	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgttgtatctctgtgaagaaTgcagcgagaggattgcaggg	10	10	15	6	2	1	3	0	1	1	2	2	5	1	4	0	2	3	4	0	2	3	3			TCGA-VN-A88P-01A-11D-A34U-08	TCGA-VN-A88P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4265c8-5f60-4f71-8ade-cb73044fa524	afbadcf2-d858-478b-adda-23f04631ad78	g.chr14:93994973T>A	ENST00000393151.2	+	9	1033	c.1033T>A	c.(1033-1035)Tgc>Agc	p.C345S	UNC79_ENST00000555664.1_Missense_Mutation_p.C345S|UNC79_ENST00000256339.4_Missense_Mutation_p.C168S|UNC79_ENST00000553484.1_Missense_Mutation_p.C345S			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	345					behavioral response to ethanol (GO:0048149)|ion transmembrane transport (GO:0034220)|multicellular organism growth (GO:0035264)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						CTGTGAAGAATGCAGCGAGAG	0.378																																						ENST00000553484.1																			0				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						c.(1033-1035)Tgc>Agc		unc-79 homolog (C. elegans)							107	102	104					14																	93994973		2203	4300	6503	SO:0001583	missense	57578					integral to membrane		g.chr14:93994973T>A	AB037830	CCDS9911.2	14q32.13	2011-08-18	2011-08-18	2011-08-18	ENSG00000133958	ENSG00000133958			19966	protein-coding gene	gene with protein product			"KIAA1409"	KIAA1409		20714347, 21040849	Standard	NM_020818		Approved		uc001ybs.1	Q9P2D8	OTTHUMG00000029783	ENST00000393151.2:c.1033T>A	14.37:g.93994973T>A	ENSP00000376858:p.Cys345Ser					UNC79_ENST00000256339.4_Missense_Mutation_p.C168S|UNC79_ENST00000393151.2_Missense_Mutation_p.C345S|UNC79_ENST00000555664.1_Missense_Mutation_p.C345S	p.C345S			Q9P2D8	UNC79_HUMAN			9	1187	+			345					B5MDL6|Q6ZUT7	Missense_Mutation	SNP	ENST00000393151.2	37	c.1033T>A		.	.	.	.	.	.	.	.	.	.	T	23.5	4.428175	0.83667	.	.	ENSG00000133958	ENST00000256339;ENST00000555664;ENST00000553484;ENST00000393151;ENST00000393153	T;T;T;T	0.62105	0.09;0.09;0.05;0.09	5.35	5.35	0.76521	.	0.000000	0.85682	D	0.000000	T	0.74183	0.3683	L	0.52011	1.625	0.80722	D	1	D;D	0.58970	0.984;0.96	D;D	0.71656	0.974;0.962	T	0.77013	-0.2745	10	0.87932	D	0	-13.6036	15.337	0.74266	0.0:0.0:0.0:1.0	.	345;345	C9JQL1;Q9P2D8	.;UNC79_HUMAN	S	168;345;345;345;345	ENSP00000256339:C168S;ENSP00000450868:C345S;ENSP00000451360:C345S;ENSP00000376858:C345S	ENSP00000256339:C168S	C	+	1	0	KIAA1409	93064726	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.817000	0.86213	2.014000	0.59158	0.533000	0.62120	TGC		0.378	UNC79-006	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000412766.1	XM_028395		44	58	0	0	0	1	0	44	58					A	93994973	T	A	93994973	3	1	405	1	0	0	0	0	1	0	0	0	8230	1464	51	5	524	5	KIAA1409	14	93994973	Missense_Mutation	SNP	T	TCGA-VN-A88P-01A-11D-A34U-08		93994973	13354567	42	19721											
DLK1	8788	broad.mit.edu	37	chr14	101194764	101194764	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttcccggcctgcaacccccaAaatggattctgcgaggatga	10	8	10	13	2	1	1	0	1	1	0	2	4	2	3	4	3	3	1	4	3	3	2	rs13329039	byFrequency	TCGA-VN-A88P-01A-11D-A34U-08	TCGA-VN-A88P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4265c8-5f60-4f71-8ade-cb73044fa524	afbadcf2-d858-478b-adda-23f04631ad78	g.chr14:101194764A>T	ENST00000341267.4	+	2	341	c.99A>T	c.(97-99)caA>caT	p.Q33H	DLK1_ENST00000331224.6_Missense_Mutation_p.Q33H|DLK1_ENST00000556051.1_Missense_Mutation_p.Q33H	NM_003836.5	NP_003827	P80370	DLK1_HUMAN	delta-like 1 homolog (Drosophila)	33	EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cell differentiation (GO:0030154)|embryonic skeletal system development (GO:0048706)|multicellular organismal development (GO:0007275)|negative regulation of Notch signaling pathway (GO:0045746)|Notch signaling pathway (GO:0007219)|post-embryonic development (GO:0009791)|regulation of gene expression (GO:0010468)	external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(16)|ovary(2)|prostate(1)|skin(1)	29		Melanoma(154;0.155)				GCAACCCCCAAAATGGATTCT	0.562																																						ENST00000341267.4																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(16)|ovary(2)|prostate(1)|skin(1)	29						c.(97-99)caA>caT		delta-like 1 homolog (Drosophila)							92	94	93					14																	101194764		2203	4300	6503	SO:0001583	missense	8788				multicellular organismal development	extracellular space|integral to membrane|soluble fraction		g.chr14:101194764A>T	U15979	CCDS9963.1	14q32	2011-12-05	2001-12-03			ENSG00000185559			2907	protein-coding gene	gene with protein product		176290	"delta-like homolog (Drosophila)"			8095043, 7925474	Standard	NM_003836		Approved	FA1, pG2, Pref-1, ZOG, Delta1	uc001yhs.4	P80370		ENST00000341267.4:c.99A>T	14.37:g.101194764A>T	ENSP00000340292:p.Gln33His					DLK1_ENST00000556051.1_Missense_Mutation_p.Q33H|DLK1_ENST00000331224.6_Missense_Mutation_p.Q33H	p.Q33H	NM_003836.5	NP_003827.3	P80370	DLK1_HUMAN			2	341	+		Melanoma(154;0.155)	33			EGF-like 1.		P15803|Q96DW5	Missense_Mutation	SNP	ENST00000341267.4	37	c.99A>T	CCDS9963.1	.	.	.	.	.	.	.	.	.	.	A	9.004	0.980814	0.18812	.	.	ENSG00000185559	ENST00000392848;ENST00000341267;ENST00000331224;ENST00000556051	D;D;D;D	0.87491	-2.14;-2.26;-2.14;-2.1	4.21	0.244	0.15507	Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	1.243080	0.05697	N	0.593346	T	0.82116	0.4967	L	0.49513	1.565	0.09310	N	1	B;B	0.12630	0.006;0.001	B;B	0.11329	0.006;0.001	T	0.64368	-0.6424	10	0.44086	T	0.13	.	4.6187	0.12438	0.4904:0.3134:0.1962:0.0	.	33;33	P80370-2;P80370	.;DLK1_HUMAN	H	33	ENSP00000376589:Q33H;ENSP00000340292:Q33H;ENSP00000331081:Q33H;ENSP00000450821:Q33H	ENSP00000331081:Q33H	Q	+	3	2	DLK1	100264517	0.109000	0.22037	0.001000	0.08648	0.005000	0.04900	0.363000	0.20301	-0.052000	0.13311	0.460000	0.39030	CAA		0.562	DLK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414389.1			13	47	0	0	0	1	0	13	47					T	101194764	A	T	101194764	3	4	405	1	0	0	0	0	1	0	0	0	4564	11	1	5	105	5	DLK1	14	101194764	Missense_Mutation	SNP	A	TCGA-VN-A88P-01A-11D-A34U-08	7199791	101194764	6154776	43	19722											
TGM7	116179	broad.mit.edu	37	chr15	43571977	43571977	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	accctctggatacgcagcagCagctgcaggtcctggcccca	8	6	11	16	1	1	0	0	0	1	0	2	1	2	1	4	3	5	5	4	3	1	1			TCGA-VN-A88P-01A-11D-A34U-08	TCGA-VN-A88P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4265c8-5f60-4f71-8ade-cb73044fa524	afbadcf2-d858-478b-adda-23f04631ad78	g.chr15:43571977C>A	ENST00000452443.2	-	10	1528	c.1524G>T	c.(1522-1524)ctG>ctT	p.L508L		NM_052955.2	NP_443187.1	Q96PF1	TGM7_HUMAN	transglutaminase 7	508					peptide cross-linking (GO:0018149)		metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(2)|prostate(4)|skin(1)	39		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;9.14e-07)	L-Glutamine(DB00130)	TACGCAGCAGCAGCTGCAGGT	0.657																																						ENST00000452443.2																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(2)|prostate(4)|skin(1)	39						c.(1522-1524)ctG>ctT		transglutaminase 7	L-Glutamine(DB00130)						38	44	42					15																	43571977		2201	4297	6498	SO:0001819	synonymous_variant	116179				peptide cross-linking		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity	g.chr15:43571977C>A	AF363393	CCDS32213.1	15q15.2	2004-07-01				ENSG00000159495		"Transglutaminases"	30790	protein-coding gene	gene with protein product	"transglutaminase Z"	606776				11390390	Standard	NM_052955		Approved	TGMZ	uc001zrf.1	Q96PF1		ENST00000452443.2:c.1524G>T	15.37:g.43571977C>A							p.L508L	NM_052955.2	NP_443187.1	Q96PF1	TGM7_HUMAN		GBM - Glioblastoma multiforme(94;9.14e-07)	10	1528	-		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)	508						Silent	SNP	ENST00000452443.2	37	c.1524G>T	CCDS32213.1																																																																																				0.657	TGM7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432489.1	NM_052955		5	50	1	0	3.59834e-05	1	3.75038e-05	5	50					A	43571977	C	A	43571977	2	1	405	1	0	0	0	0	0	0	0	1	15832	697	25	5		5	TGM7	15	43571977	Silent	SNP	C	TCGA-VN-A88P-01A-11D-A34U-08		43571977	58959415	44	19723											
UNC13C	440279	broad.mit.edu	37	chr15	54847665	54847665	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggatgccaggggtctgacGccaagacaatgcgctataat	12	7	13	9	2	1	2	0	1	1	1	1	4	1	3	2	3	2	1	2	3	4	2			TCGA-VN-A88P-01A-11D-A34U-08	TCGA-VN-A88P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4265c8-5f60-4f71-8ade-cb73044fa524	afbadcf2-d858-478b-adda-23f04631ad78	g.chr15:54847665G>A	ENST00000260323.11	+	28	5913	c.5913G>A	c.(5911-5913)acG>acA	p.T1971T	UNC13C_ENST00000537900.1_Silent_p.T1969T|UNC13C_ENST00000545554.1_Silent_p.T1971T	NM_001080534.1	NP_001074003.1	Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	1971	MHD2. {ECO:0000255|PROSITE- ProRule:PRU00588}.				exocytosis (GO:0006887)|intracellular signal transduction (GO:0035556)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		GGGGTCTGACGCCAAGACAAT	0.438																																						ENST00000545554.1																			0				breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121						c.(5911-5913)acG>acA		unc-13 homolog C (C. elegans)							79	77	77					15																	54847665		1956	4130	6086	SO:0001819	synonymous_variant	440279				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding	g.chr15:54847665G>A	AK091491	CCDS45264.1	15q21.3	2012-10-02			ENSG00000137766	ENSG00000137766			23149	protein-coding gene	gene with protein product		614568					Standard	NM_001080534		Approved	Munc13-3, DKFZp547H074	uc021smr.1	Q8NB66	OTTHUMG00000172542	ENST00000260323.11:c.5913G>A	15.37:g.54847665G>A						UNC13C_ENST00000537900.1_Silent_p.T1969T|UNC13C_ENST00000260323.11_Silent_p.T1971T	p.T1971T			Q8NB66	UN13C_HUMAN		GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)	28	5913	+			1971			MHD2.		Q0P613|Q8ND48|Q96NP3	Silent	SNP	ENST00000260323.11	37	c.5913G>A	CCDS45264.1																																																																																				0.438	UNC13C-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000419028.3	NM_173166		7	2	0	0	0	1	0	7	2					A	54847665	G	A	54847665	2	1	405	1	0	0	0	0	0	0	0	1	16983	1074	38	1		1	UNC13C	15	54847665	Silent	SNP	G	TCGA-VN-A88P-01A-11D-A34U-08	11275688	54847665	47683727	45	19724											
ZNF423	23090	broad.mit.edu	37	chr16	49670145	49670145	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaccttgtgttcggtgagcGtcagcagcgaagggaagcgc	8	8	15	10	4	2	1	2	1	0	0	3	3	2	2	1	2	4	2	1	2	2	2			TCGA-VN-A88P-01A-11D-A34U-08	TCGA-VN-A88P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4265c8-5f60-4f71-8ade-cb73044fa524	afbadcf2-d858-478b-adda-23f04631ad78	g.chr16:49670145G>A	ENST00000561648.1	-	4	2971	c.2918C>T	c.(2917-2919)aCg>aTg	p.T973M	ZNF423_ENST00000567169.1_Missense_Mutation_p.T856M|ZNF423_ENST00000262383.2_Missense_Mutation_p.T973M|ZNF423_ENST00000535559.1_Missense_Mutation_p.T856M|ZNF423_ENST00000562871.1_Missense_Mutation_p.T913M|ZNF423_ENST00000563137.2_Missense_Mutation_p.T913M|ZNF423_ENST00000562520.1_Missense_Mutation_p.T913M	NM_001271620.1	NP_001258549.1	Q2M1K9	ZN423_HUMAN	zinc finger protein 423	973					cell differentiation (GO:0030154)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.T973M(2)		breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	89		all_cancers(37;0.0155)				TTCGGTGAGCGTCAGCAGCGA	0.612																																						ENST00000561648.1																			2	Substitution - Missense(2)	p.T973M(2)	lung(2)	breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	89						c.(2917-2919)aCg>aTg		zinc finger protein 423							59	46	50					16																	49670145		2198	4300	6498	SO:0001583	missense	23090				cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	g.chr16:49670145G>A	AB018303	CCDS32445.1, CCDS61930.1	16q12	2014-01-28				ENSG00000102935		"Zinc fingers, C2H2-type"	16762	protein-coding gene	gene with protein product	"OLF-1/EBF associated zinc finger gene", " Smad- and Olf-interacting zinc finger protein", "early B-cell factor associated zinc finger protein"	604557				9872452, 10660046	Standard	NM_001271620		Approved	KIAA0760, OAZ, Roaz, Ebfaz, Zfp104, NPHP14, JBTS19	uc031qwd.1	Q2M1K9		ENST00000561648.1:c.2918C>T	16.37:g.49670145G>A	ENSP00000455426:p.Thr973Met					ZNF423_ENST00000567169.1_Missense_Mutation_p.T856M|ZNF423_ENST00000562520.1_Missense_Mutation_p.T913M|ZNF423_ENST00000262383.2_Missense_Mutation_p.T973M|ZNF423_ENST00000563137.2_Missense_Mutation_p.T913M|ZNF423_ENST00000535559.1_Missense_Mutation_p.T856M|ZNF423_ENST00000562871.1_Missense_Mutation_p.T913M	p.T973M	NM_001271620.1	NP_001258549.1	Q2M1K9	ZN423_HUMAN			4	2971	-		all_cancers(37;0.0155)	973					O94860|Q76N04|Q9NZ13	Missense_Mutation	SNP	ENST00000561648.1	37	c.2918C>T	CCDS32445.1	.	.	.	.	.	.	.	.	.	.	G	16.20	3.055324	0.55325	.	.	ENSG00000102935	ENST00000262383;ENST00000535559	T;T	0.29142	1.58;1.58	4.81	4.81	0.61882	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.43322	0.1242	L	0.27053	0.805	0.43919	D	0.996569	D	0.89917	1.0	D	0.91635	0.999	T	0.28522	-1.0041	9	.	.	.	-20.8151	17.8857	0.88854	0.0:0.0:1.0:0.0	.	973	Q2M1K9	ZN423_HUMAN	M	973;856	ENSP00000262383:T973M;ENSP00000442321:T856M	.	T	-	2	0	ZNF423	48227646	1.000000	0.71417	1.000000	0.80357	0.685000	0.39939	8.062000	0.89475	2.234000	0.73211	0.561000	0.74099	ACG		0.612	ZNF423-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000423258.1	NM_015069		5	44	0	0	0	1	0	5	44					A	49670145	G	A	49670145	3	1	405	1	0	0	0	0	1	0	0	0	17895	1145	40	1	956	1	ZNF423	16	49670145	Missense_Mutation	SNP	G	TCGA-VN-A88P-01A-11D-A34U-08		49670145	40684608	46	19725											
DHX33	56919	broad.mit.edu	37	chr17	5353605	5353605	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cgctggatatgaacttcttgCggaccccttgcacttcctct	6	13	8	14	2	2	1	0	1	2	0	3	3	3	3	3	2	3	2	3	2	2	5	rs373067235		TCGA-VN-A88P-01A-11D-A34U-08	TCGA-VN-A88P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4265c8-5f60-4f71-8ade-cb73044fa524	afbadcf2-d858-478b-adda-23f04631ad78	g.chr17:5353605C>T	ENST00000225296.3	-	10	1846	c.1646G>A	c.(1645-1647)cGc>cAc	p.R549H	DHX33_ENST00000433302.3_Missense_Mutation_p.R325H	NM_001199699.1|NM_020162.3	NP_001186628.1|NP_064547.2	Q9H6R0	DHX33_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 33	549					positive regulation of transcription from RNA polymerase I promoter (GO:0045943)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)|rDNA binding (GO:0000182)			breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						GAACTTCTTGCGGACCCCTTG	0.537																																						ENST00000225296.3																			0				breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						c.(1645-1647)cGc>cAc		DEAH (Asp-Glu-Ala-His) box polypeptide 33		C	HIS/ARG,HIS/ARG	0,4406		0,0,2203	151	153	153		1127,1646	5.7	1	17		153	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	DHX33	NM_001199699.1,NM_020162.3	29,29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging	376/535,549/708	5353605	1,13005	2203	4300	6503	SO:0001583	missense	56919					nucleolus	ATP binding|ATP-dependent helicase activity|nucleic acid binding	g.chr17:5353605C>T	AL359945	CCDS11072.1	17p13	2003-06-13	2003-06-13	2003-06-13	ENSG00000005100	ENSG00000005100		"DEAH-boxes"	16718	protein-coding gene	gene with protein product		614405	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 33"	DDX33			Standard	NM_020162		Approved	FLJ21972, DKFZp762F2011	uc002gca.3	Q9H6R0	OTTHUMG00000102041	ENST00000225296.3:c.1646G>A	17.37:g.5353605C>T	ENSP00000225296:p.Arg549His					DHX33_ENST00000433302.3_Missense_Mutation_p.R325H	p.R549H	NM_001199699.1|NM_020162.3	NP_001186628.1|NP_064547.2	Q9H6R0	DHX33_HUMAN			10	1846	-			549					B4DHF9|Q4G149|Q5CZ73|Q9H5M9	Missense_Mutation	SNP	ENST00000225296.3	37	c.1646G>A	CCDS11072.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.361239	0.82353	0.0	1.16E-4	ENSG00000005100	ENST00000225296;ENST00000433302	T;T	0.31247	1.5;1.5	5.69	5.69	0.88448	Helicase-associated domain (2);	0.050103	0.85682	D	0.000000	T	0.50377	0.1612	L	0.42245	1.32	0.80722	D	1	D;P	0.89917	1.0;0.738	D;B	0.80764	0.994;0.279	T	0.46925	-0.9156	10	0.72032	D	0.01	.	18.8064	0.92038	0.0:1.0:0.0:0.0	.	325;549	Q05BE5;Q9H6R0	.;DHX33_HUMAN	H	549;325	ENSP00000225296:R549H;ENSP00000413779:R325H	ENSP00000225296:R549H	R	-	2	0	DHX33	5294329	1.000000	0.71417	0.996000	0.52242	0.689000	0.40095	7.379000	0.79691	2.700000	0.92200	0.561000	0.74099	CGC		0.537	DHX33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219826.2	NM_020162		16	117	0	0	0	1	0	16	117					T	5353605	C	T	5353605	3	4	405	1	0	0	0	0	1	0	0	0	4506	768	27	1	489	1	DHX33	17	5353605	Missense_Mutation	SNP	C	TCGA-VN-A88P-01A-11D-A34U-08		5353605	75841605	47	19726											
SLC26A11	284129	broad.mit.edu	37	chr17	78222020	78222020	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggggccctggtgtctctgctCatgctcctgcactctgcagc	3	11	12	15	0	3	0	1	0	2	0	5	0	4	0	2	3	5	4	2	3	0	0			TCGA-VN-A88P-01A-11D-A34U-08	TCGA-VN-A88P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4265c8-5f60-4f71-8ade-cb73044fa524	afbadcf2-d858-478b-adda-23f04631ad78	g.chr17:78222020C>T	ENST00000361193.3	+	14	1666	c.1386C>T	c.(1384-1386)ctC>ctT	p.L462L	SLC26A11_ENST00000411502.3_Silent_p.L462L|SLC26A11_ENST00000572725.1_Silent_p.L462L|SLC26A11_ENST00000546047.2_Silent_p.L462L	NM_001166347.1|NM_173626.3	NP_001159819.1|NP_775897.3			solute carrier family 26 (anion exchanger), member 11											central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(7)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	28	all_neural(118;0.0538)		OV - Ovarian serous cystadenocarcinoma(97;0.0344)|BRCA - Breast invasive adenocarcinoma(99;0.0908)			TGTCTCTGCTCATGCTCCTGC	0.637																																						ENST00000361193.3																			0				central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(7)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	28						c.(1384-1386)ctC>ctT		solute carrier family 26 (anion exchanger), member 11							48	41	44					17																	78222020		2203	4300	6503	SO:0001819	synonymous_variant	284129					endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosomal membrane|plasma membrane	anion:anion antiporter activity|secondary active sulfate transmembrane transporter activity	g.chr17:78222020C>T		CCDS11771.2	17q25	2013-07-18	2013-07-18		ENSG00000181045	ENSG00000181045		"Solute carriers"	14471	protein-coding gene	gene with protein product		610117	"solute carrier family 26, member 11"				Standard	NM_001166347		Approved		uc010dhv.2	Q86WA9	OTTHUMG00000133419	ENST00000361193.3:c.1386C>T	17.37:g.78222020C>T						SLC26A11_ENST00000546047.2_Silent_p.L462L|SLC26A11_ENST00000411502.3_Silent_p.L462L|SLC26A11_ENST00000572725.1_Silent_p.L462L	p.L462L	NM_001166347.1|NM_173626.3	NP_001159819.1|NP_775897.3	Q86WA9	S2611_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0344)|BRCA - Breast invasive adenocarcinoma(99;0.0908)		14	1666	+	all_neural(118;0.0538)		462						Silent	SNP	ENST00000361193.3	37	c.1386C>T	CCDS11771.2																																																																																				0.637	SLC26A11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257281.1			8	11	0	0	0	1	0	8	11					T	78222020	C	T	78222020	2	4	405	1	0	0	0	0	0	0	0	1	14516	813	29	3		3	SLC26A11	17	78222020	Silent	SNP	C	TCGA-VN-A88P-01A-11D-A34U-08	72868415	78222020	2973190	48	19727											
RNMT	8731	broad.mit.edu	37	chr18	13759951	13759951	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcttctttaggtatttacttGgtgtttgcctttgagaaaca	8	19	8	6	0	2	1	0	1	2	1	2	2	2	1	1	2	3	2	1	2	4	9			TCGA-VN-A88P-01A-11D-A34U-08	TCGA-VN-A88P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4265c8-5f60-4f71-8ade-cb73044fa524	afbadcf2-d858-478b-adda-23f04631ad78	g.chr18:13759951G>C	ENST00000383314.2	+	12	1644	c.1404G>C	c.(1402-1404)ttG>ttC	p.L468F	RNMT_ENST00000535051.1_Missense_Mutation_p.L226F|RNMT_ENST00000262173.3_Missense_Mutation_p.L468F|RNMT_ENST00000592764.1_Intron|RNMT_ENST00000543302.2_Missense_Mutation_p.L468F|RNMT_ENST00000589866.1_Missense_Mutation_p.L468F			O43148	MCES_HUMAN	RNA (guanine-7-) methyltransferase	468	mRNA cap 0 methyltransferase. {ECO:0000255|PROSITE-ProRule:PRU00895}.				7-methylguanosine mRNA capping (GO:0006370)|gene expression (GO:0010467)|RNA (guanine-N7)-methylation (GO:0036265)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	mRNA cap binding complex (GO:0005845)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|receptor complex (GO:0043235)	mRNA (guanine-N7-)-methyltransferase activity (GO:0004482)|RNA binding (GO:0003723)			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|skin(2)	18						GTATTTACTTGGTGTTTGCCT	0.348																																					GBM(29;474 594 19092 36647 41529)	ENST00000383314.2																			0				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|skin(2)	18						c.(1402-1404)ttG>ttC		RNA (guanine-7-) methyltransferase							120	114	116					18																	13759951		2203	4300	6503	SO:0001583	missense	8731				mRNA capping|transcription from RNA polymerase II promoter|viral reproduction	nucleoplasm	mRNA (guanine-N7-)-methyltransferase activity|RNA binding	g.chr18:13759951G>C	AF067791	CCDS11867.1	18p11.21	2008-05-14			ENSG00000101654	ENSG00000101654	2.1.1.56		10075	protein-coding gene	gene with protein product		603514				9828141, 9705270	Standard	NM_003799		Approved	RG7MT1	uc002ksl.1	O43148	OTTHUMG00000131718	ENST00000383314.2:c.1404G>C	18.37:g.13759951G>C	ENSP00000372804:p.Leu468Phe					RNMT_ENST00000262173.3_Missense_Mutation_p.L468F|RNMT_ENST00000535051.1_Missense_Mutation_p.L226F|RNMT_ENST00000592764.1_Intron|RNMT_ENST00000589866.1_Missense_Mutation_p.L468F|RNMT_ENST00000543302.2_Missense_Mutation_p.L468F	p.L468F			O43148	MCES_HUMAN			12	1644	+			468					B0YJ90|D3DUJ5|O94996|Q9UIJ9	Missense_Mutation	SNP	ENST00000383314.2	37	c.1404G>C	CCDS11867.1	.	.	.	.	.	.	.	.	.	.	G	23.6	4.440500	0.83993	.	.	ENSG00000101654	ENST00000383314;ENST00000535051;ENST00000543302;ENST00000262173	.	.	.	5.53	5.53	0.82687	.	0.822517	0.11343	N	0.573803	T	0.77301	0.4110	M	0.84326	2.69	0.80722	D	1	P	0.47106	0.89	P	0.53360	0.724	T	0.71912	-0.4449	9	0.24483	T	0.36	-17.5121	18.371	0.90407	0.0:0.0:1.0:0.0	.	468	O43148	MCES_HUMAN	F	468;226;468;468	.	ENSP00000262173:L468F	L	+	3	2	RNMT	13749951	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.099000	0.64554	2.762000	0.94881	0.655000	0.94253	TTG		0.348	RNMT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254636.1	NM_003799		17	17	0	0	0	1	0	17	17					C	13759951	G	C	13759951	3	2	405	1	0	0	0	0	1	0	0	0	13506	1339	47	5	1442	5	RNMT	18	13759951	Missense_Mutation	SNP	G	TCGA-VN-A88P-01A-11D-A34U-08		13759951	64317297	49	19728											
SERPINB8	5271	broad.mit.edu	37	chr18	61652428	61652428	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gagctgccctatgtggaagaGgagctgagcatggtcattct	9	10	14	8	0	2	2	1	1	1	1	2	5	2	4	1	3	4	3	1	3	2	2			TCGA-VN-A88P-01A-11D-A34U-08	TCGA-VN-A88P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4265c8-5f60-4f71-8ade-cb73044fa524	afbadcf2-d858-478b-adda-23f04631ad78	g.chr18:61652428G>C	ENST00000397985.2	+	6	925	c.669G>C	c.(667-669)gaG>gaC	p.E223D	SERPINB8_ENST00000397988.3_Missense_Mutation_p.E223D|SERPINB8_ENST00000493661.1_3'UTR|SERPINB8_ENST00000542677.1_Missense_Mutation_p.E41D|SERPINB8_ENST00000353706.2_Missense_Mutation_p.E223D	NM_001276490.1	NP_001263419.1	P50452	SPB8_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 8	223					negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(2)|kidney(1)|large_intestine(4)|lung(9)|skin(1)	17		Esophageal squamous(42;0.129)				ATGTGGAAGAGGAGCTGAGCA	0.512																																						ENST00000397985.2																			0				breast(2)|kidney(1)|large_intestine(4)|lung(9)|skin(1)	17						c.(667-669)gaG>gaC		serpin peptidase inhibitor, clade B (ovalbumin), member 8							118	97	104					18																	61652428		2203	4300	6503	SO:0001583	missense	5271				regulation of proteolysis	cytosol	protein binding|serine-type endopeptidase inhibitor activity	g.chr18:61652428G>C	L40377	CCDS11991.1, CCDS42442.1, CCDS62460.1	18q22.1	2014-02-18	2005-08-18		ENSG00000166401	ENSG00000166401		"Serine (or cysteine) peptidase inhibitors"	8952	protein-coding gene	gene with protein product	"cytoplasmic antiproteinase 2"	601697	"serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 8"	PI8		8530382, 9268635, 24172014	Standard	NM_198833		Approved	CAP2	uc002lju.3	P50452	OTTHUMG00000060596	ENST00000397985.2:c.669G>C	18.37:g.61652428G>C	ENSP00000381072:p.Glu223Asp					SERPINB8_ENST00000493661.1_3'UTR|SERPINB8_ENST00000397988.3_Missense_Mutation_p.E223D|SERPINB8_ENST00000353706.2_Missense_Mutation_p.E223D|SERPINB8_ENST00000542677.1_Missense_Mutation_p.E41D	p.E223D	NM_001276490.1	NP_001263419.1	P50452	SPB8_HUMAN			6	925	+		Esophageal squamous(42;0.129)	223					B4DTW2|Q7Z2V6|Q8N178	Missense_Mutation	SNP	ENST00000397985.2	37	c.669G>C	CCDS11991.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	2.145|2.145	-0.395920|-0.395920	0.04899|0.04899	.|.	.|.	ENSG00000166401|ENSG00000166401	ENST00000397985;ENST00000353706;ENST00000542677;ENST00000397988|ENST00000295211	D;D;D;D|.	0.84516|.	-1.57;-1.57;-1.86;-1.57|.	5.5|5.5	-2.12|-2.12	0.07165|0.07165	Serpin domain (3);|.	0.561551|.	0.20914|.	N|.	0.083404|.	T|T	0.16171|0.16171	0.0389|0.0389	N|N	0.17379|0.17379	0.485|0.485	0.09310|0.09310	N|N	0.999997|0.999997	B;B|.	0.02656|.	0.0;0.0|.	B;B|.	0.08055|.	0.002;0.003|.	T|T	0.23154|0.23154	-1.0196|-1.0196	10|5	0.32370|.	T|.	0.25|.	.|.	0.8184|0.8184	0.01107|0.01107	0.2776:0.2914:0.2505:0.1806|0.2776:0.2914:0.2505:0.1806	.|.	223;223|.	P50452;Q8N178|.	SPB8_HUMAN;.|.	D|T	223;223;41;223|165	ENSP00000381072:E223D;ENSP00000331368:E223D;ENSP00000438328:E41D;ENSP00000381075:E223D|.	ENSP00000331368:E223D|.	E|R	+|+	3|2	2|0	SERPINB8|SERPINB8	59803408|59803408	0.000000|0.000000	0.05858|0.05858	0.003000|0.003000	0.11579|0.11579	0.059000|0.059000	0.15707|0.15707	-2.772000|-2.772000	0.00779|0.00779	-0.337000|-0.337000	0.08426|0.08426	0.650000|0.650000	0.86243|0.86243	GAG|AGG		0.512	SERPINB8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000134014.1	NM_001031848		11	27	0	0	0	1	0	11	27					C	61652428	G	C	61652428	3	2	405	1	0	0	0	0	1	0	0	0	14107	991	35	5	687	5	SERPINB8	18	61652428	Missense_Mutation	SNP	G	TCGA-VN-A88P-01A-11D-A34U-08	47892477	61652428	16424820	50	19729											
ZBTB7A	51341	broad.mit.edu	37	chr19	4054211	4054211	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccttgtcgtcggcccgcgaCtcctcgtcgctgtcccccgc	1	9	10	21	7	0	0	0	0	0	0	6	1	2	0	5	1	0	1	5	1	0	1			TCGA-VN-A88P-01A-11D-A34U-08	TCGA-VN-A88P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4265c8-5f60-4f71-8ade-cb73044fa524	afbadcf2-d858-478b-adda-23f04631ad78	g.chr19:4054211C>A	ENST00000322357.4	-	2	1298	c.1020G>T	c.(1018-1020)gaG>gaT	p.E340D	ZBTB7A_ENST00000601588.1_Missense_Mutation_p.E340D	NM_015898.2	NP_056982.1	O95365	ZBT7A_HUMAN	zinc finger and BTB domain containing 7A	340					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone acetyltransferase binding (GO:0035035)|metal ion binding (GO:0046872)			endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	14		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.014)|STAD - Stomach adenocarcinoma(1328;0.18)		CGGCCCGCGACTCCTCGTCGC	0.706																																						ENST00000322357.4																			0				endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	14						c.(1018-1020)gaG>gaT		zinc finger and BTB domain containing 7A							22	23	22					19																	4054211		2203	4300	6503	SO:0001583	missense	51341				cell differentiation|multicellular organismal development|transcription, DNA-dependent	nucleus	DNA binding|histone acetyltransferase binding|zinc ion binding	g.chr19:4054211C>A	AF000561	CCDS12119.1	19p13.3	2013-01-08		2005-04-07		ENSG00000178951		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	18078	protein-coding gene	gene with protein product	"zinc finger and BTB domain containing 7A, HIV-1 inducer of short transcripts binding protein", "lymphoma related factor"	605878	"zinc finger and BTB domain containing 7"	ZBTB7		9973611, 9927193	Standard	NM_015898		Approved	FBI-1, LRF, DKFZp547O146, pokemon, ZNF857A	uc002lzi.3	O95365		ENST00000322357.4:c.1020G>T	19.37:g.4054211C>A	ENSP00000323670:p.Glu340Asp					ZBTB7A_ENST00000601588.1_Missense_Mutation_p.E340D	p.E340D	NM_015898.2	NP_056982.1	O95365	ZBT7A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.014)|STAD - Stomach adenocarcinoma(1328;0.18)	2	1298	-		Hepatocellular(1079;0.137)	340					D6W619|O00456|Q14D41|Q5XG86	Missense_Mutation	SNP	ENST00000322357.4	37	c.1020G>T	CCDS12119.1	.	.	.	.	.	.	.	.	.	.	C	5.319	0.244185	0.10077	.	.	ENSG00000178951	ENST00000322357	T	0.12465	2.68	5.02	3.96	0.45880	.	0.145219	0.45361	D	0.000361	T	0.04227	0.0117	N	0.01576	-0.805	0.09310	N	0.999998	B	0.02656	0.0	B	0.06405	0.002	T	0.41448	-0.9508	10	0.15066	T	0.55	.	8.8944	0.35455	0.1978:0.6694:0.1328:0.0	.	340	O95365	ZBT7A_HUMAN	D	340	ENSP00000323670:E340D	ENSP00000323670:E340D	E	-	3	2	ZBTB7A	4005211	0.895000	0.30542	1.000000	0.80357	0.853000	0.48598	0.241000	0.18065	2.331000	0.79229	0.455000	0.32223	GAG		0.706	ZBTB7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457621.2	NM_015898		9	20	1	0	2.17888e-05	1	2.30338e-05	9	20					A	4054211	C	A	4054211	3	1	405	1	0	0	0	0	1	0	0	0	17550	564	20	5	742	5	ZBTB7A	19	4054211	Missense_Mutation	SNP	C	TCGA-VN-A88P-01A-11D-A34U-08		4054211	55074772	51	19730											
CD37	951	broad.mit.edu	37	chr19	49842112	49842114	+	In_Frame_Del	DEL	CAG	CAG	-																															aaggtgatcttgccccagctCagcaggcttggacacctggc																										TCGA-VN-A88P-01A-11D-A34U-08	TCGA-VN-A88P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4265c8-5f60-4f71-8ade-cb73044fa524	afbadcf2-d858-478b-adda-23f04631ad78	g.chr19:49842112_49842114delCAG	ENST00000323906.4	+	6	744_746	c.603_605delCAG	c.(601-606)ctcagc>ctc	p.S202del	CD37_ENST00000535669.2_In_Frame_Del_p.S202del|CD37_ENST00000426897.2_In_Frame_Del_p.S134del|CD37_ENST00000598095.1_In_Frame_Del_p.S134del|CTC-301O7.4_ENST00000358234.4_lincRNA	NM_001774.2	NP_001765.1	P11049	CD37_HUMAN	CD37 molecule	202					defense response to protozoan (GO:0042832)|negative regulation of cell proliferation (GO:0008285)|negative regulation of myeloid dendritic cell activation (GO:0030886)|positive regulation of immunoglobulin production (GO:0002639)|regulation of defense response to virus (GO:0050688)|regulation of humoral immune response (GO:0002920)	extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(1)|endometrium(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(1)	11		all_lung(116;2.81e-06)|Lung NSC(112;5.89e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00088)|GBM - Glioblastoma multiforme(486;0.0443)		TGCCCCAGCTCAGCAGGCTTGGA	0.621																																						ENST00000535669.2																			0				breast(1)|endometrium(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(1)	11						c.(601-606)ctc>ct		CD37 molecule																																				SO:0001651	inframe_deletion	0					integral to membrane		g.chr19:49842112_49842114delCAG		CCDS12760.1, CCDS46139.1	19p13-q13.4	2013-02-14	2006-03-28			ENSG00000104894		"CD molecules", "Tetraspanins"	1666	protein-coding gene	gene with protein product		151523	"CD37 antigen"			8436422	Standard	XM_005259435		Approved	TSPAN26	uc002pnd.3	P11049		ENST00000323906.4:c.603_605delCAG	19.37:g.49842115_49842117delCAG	ENSP00000325708:p.Ser202del					CD37_ENST00000323906.4_In_Frame_Del_p.LS201del|CD37_ENST00000426897.2_In_Frame_Del_p.LS133del|CD37_ENST00000598095.1_In_Frame_Del_p.LS133del|CTC-301O7.4_ENST00000358234.4_lincRNA	p.LS201del			P11049	CD37_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00088)|GBM - Glioblastoma multiforme(486;0.0443)	6	717_719	+		all_lung(116;2.81e-06)|Lung NSC(112;5.89e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)	201					B4DVC1|Q3KPF9	In_Frame_Del	DEL	ENST00000323906.4	37	c.603_605delCAG	CCDS12760.1																																																																																				0.621	CD37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465532.1			22	55						22	55	---	---	---	---	-	49842114	CAG	-	49842112	7	5	405	1	0	1	0	1	0	0	0	0	3008	813	29	0	625	0	CD37	19	49842112	In_Frame_Del	DEL	CAG	TCGA-VN-A88P-01A-11D-A34U-08	45787901	49842112	9286871	52	19731											
KRTAP10-1	386677	broad.mit.edu	37	chr21	45959946	45959946	+	Frame_Shift_Del	DEL	G	G	-																															gcagctgagggcgcagcagtGgggctcacagcagctctctg																										TCGA-VN-A88P-01A-11D-A34U-08	TCGA-VN-A88P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4265c8-5f60-4f71-8ade-cb73044fa524	afbadcf2-d858-478b-adda-23f04631ad78	g.chr21:45959946delG	ENST00000400375.1	-	1	132	c.88delC	c.(88-90)cacfs	p.H30fs	TSPEAR_ENST00000323084.4_Intron|TSPEAR_ENST00000397916.1_Intron	NM_198691.2	NP_941964.2	P60331	KR101_HUMAN	keratin associated protein 10-1	30	24 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)				breast(1)|central_nervous_system(1)|endometrium(1)|lung(3)|prostate(4)|skin(1)	11						GCGCAGCAGTGGGGCTCACAG	0.701																																						ENST00000400375.1																			0				breast(1)|central_nervous_system(1)|endometrium(1)|lung(3)|prostate(4)|skin(1)	11						c.(88-90)acfs		keratin associated protein 10-1							60	68	65					21																	45959946		2201	4292	6493	SO:0001589	frameshift_variant	386677					keratin filament		g.chr21:45959946delG	AJ566380	CCDS42954.1	21q22.3	2007-10-05			ENSG00000215455	ENSG00000215455		"Keratin associated proteins"	22966	protein-coding gene	gene with protein product				KRTAP18-1			Standard	NM_198691		Approved	KAP10.1, KAP18.1	uc002zfh.1	P60331	OTTHUMG00000057627	ENST00000400375.1:c.88delC	21.37:g.45959946delG	ENSP00000383226:p.His30fs					TSPEAR_ENST00000323084.4_Intron|TSPEAR_ENST00000397916.1_Intron	p.H30fs	NM_198691.2	NP_941964.2	P60331	KR101_HUMAN			1	132	-			30			24 X 5 AA repeats of C-C-X(3).		Q0VAR0|Q0VAR1	Frame_Shift_Del	DEL	ENST00000400375.1	37	c.88delC	CCDS42954.1																																																																																				0.701	KRTAP10-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128030.1			58	57						58	57	---	---	---	---	-	45959946	G	-	45959946	7	5	405	1	0	1	0	1	0	0	0	0	8505	1348	47	0	764	0	KRTAP10-1	21	45959946	Frame_Shift_Del	DEL	G	TCGA-VN-A88P-01A-11D-A34U-08		45959946	2169949	53	19732											
CT47B1	643311	broad.mit.edu	37	chrX	120009180	120009180	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	aagccaatgcccgccgccggGtaccgacgggtggccaccgc	7	3	14	17	6	0	0	0	0	0	0	0	1	0	0	7	3	3	1	7	3	3	1			TCGA-VN-A88P-01A-11D-A34U-08	TCGA-VN-A88P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4265c8-5f60-4f71-8ade-cb73044fa524	afbadcf2-d858-478b-adda-23f04631ad78	g.chrX:120009180G>A	ENST00000371311.3	-	1	599	c.345C>T	c.(343-345)taC>taT	p.Y115Y		NM_001145718.1	NP_001139190.1	P0C2W7	CT47B_HUMAN	cancer/testis antigen family 47, member B1	115										breast(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|lung(9)|ovary(1)|skin(1)	22						CCGCCGCCGGGTACCGACGGG	0.632																																						ENST00000371311.3																			0				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|lung(9)|ovary(1)|skin(1)	22						c.(343-345)taC>taT		cancer/testis antigen family 47, member B1							54	68	64					X																	120009180		692	1590	2282	SO:0001819	synonymous_variant	643311							g.chrX:120009180G>A		CCDS48161.1	Xq24	2014-05-06	2011-03-24		ENSG00000236446	ENSG00000236446			33293	protein-coding gene	gene with protein product	"cancer/testis CT47 family, member 13"	300790				16382448	Standard	NM_001145718		Approved	CT47.13	uc011muc.2	P0C2W7	OTTHUMG00000187483	ENST00000371311.3:c.345C>T	X.37:g.120009180G>A							p.Y115Y	NM_001145718.1	NP_001139190.1	P0C2W7	CT47B_HUMAN			1	599	-			115					A6NM97	Silent	SNP	ENST00000371311.3	37	c.345C>T	CCDS48161.1																																																																																				0.632	CT47B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058121.1	NM_001145718		10	6	0	0	0	1	0	10	6					A	120009180	G	A	120009180	2	1	405	1	0	0	0	0	0	0	0	1	3989	1256	44	3		3	CT47B1	23	120009180	Silent	SNP	G	TCGA-VN-A88P-01A-11D-A34U-08		120009180	35261380	54	19733											
FMO3	2328	broad.mit.edu	37	chr1	171086252	171086252	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atctccaggtttggcaaaagCgagaccatacagacagatta	15	8	9	9	1	1	3	0	0	1	3	2	4	1	3	2	2	2	2	2	2	4	3	rs372550552	byFrequency	TCGA-VN-A88Q-01A-11D-A34U-08	TCGA-VN-A88Q-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01ba16d8-9bb6-47e4-a32c-887197f7b36d	3d8fd88e-7661-4504-aa5b-a45bb03b8ee1	g.chr1:171086252C>T	ENST00000367755.4	+	9	1380	c.1269C>T	c.(1267-1269)agC>agT	p.S423S	FMO3_ENST00000538429.1_Silent_p.S360S|FMO3_ENST00000542847.1_Silent_p.S403S|FMO3_ENST00000392085.2_Silent_p.S423S	NM_001002294.2	NP_001002294.1	P31513	FMO3_HUMAN	flavin containing monooxygenase 3	423					drug metabolic process (GO:0017144)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)	amino acid binding (GO:0016597)|flavin adenine dinucleotide binding (GO:0050660)|N,N-dimethylaniline monooxygenase activity (GO:0004499)|NADP binding (GO:0050661)|trimethylamine monooxygenase activity (GO:0034899)			endometrium(1)|kidney(1)|large_intestine(12)|lung(12)|skin(1)|stomach(2)|urinary_tract(2)	31	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)				Almotriptan(DB00918)|Cimetidine(DB00501)|Clozapine(DB00363)|Dapsone(DB00250)|Dasatinib(DB01254)|Olanzapine(DB00334)|Tamoxifen(DB00675)|Vandetanib(DB05294)|Voriconazole(DB00582)	TTGGCAAAAGCGAGACCATAC	0.438													C|||	2	0.000399361	8e-04	0	5008	,	,		19450	0		0	False		,,,				2504	0.001					ENST00000367755.4																			0				endometrium(1)|kidney(1)|large_intestine(12)|lung(12)|skin(1)|stomach(2)|urinary_tract(2)	31						c.(1267-1269)agC>agT		flavin containing monooxygenase 3		C	,	0,4406		0,0,2203	93	92	92		1269,1269	-8.4	0	1		92	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	FMO3	NM_001002294.2,NM_006894.5	,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,	423/533,423/533	171086252	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	2328				xenobiotic metabolic process	integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity	g.chr1:171086252C>T	BC032016	CCDS1292.1	1q24.3	2013-10-01			ENSG00000007933	ENSG00000007933	2.6.1.16		3771	protein-coding gene	gene with protein product		136132				8486388, 9417913	Standard	NM_001002294		Approved		uc001ghh.3	P31513	OTTHUMG00000035505	ENST00000367755.4:c.1269C>T	1.37:g.171086252C>T						FMO3_ENST00000392085.2_Silent_p.S423S|FMO3_ENST00000538429.1_Silent_p.S360S|FMO3_ENST00000542847.1_Silent_p.S403S	p.S423S	NM_001002294.2	NP_001002294.1	P31513	FMO3_HUMAN			9	1380	+	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)		423					B2R816|Q14854|Q8N5N5	Silent	SNP	ENST00000367755.4	37	c.1269C>T	CCDS1292.1																																																																																				0.438	FMO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086219.1	NM_006894		6	67	0	0	0	1	0	6	67					T	171086252	C	T	171086252	2	4	406	1	0	0	0	0	0	0	0	1	5956	767	27	1		1	FMO3	1	171086252	Silent	SNP	C	TCGA-VN-A88Q-01A-11D-A34U-08		171086252	78164369	1	19734											
TROVE2	6738	broad.mit.edu	37	chr1	193045706	193045706	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaaagatgactgctaattcaGtacttgaaccaggaaattca	16	10	8	7	0	2	3	2	2	0	1	2	5	2	4	1	1	3	2	1	1	5	5			TCGA-VN-A88Q-01A-11D-A34U-08	TCGA-VN-A88Q-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01ba16d8-9bb6-47e4-a32c-887197f7b36d	3d8fd88e-7661-4504-aa5b-a45bb03b8ee1	g.chr1:193045706G>A	ENST00000367446.3	+	4	1087	c.877G>A	c.(877-879)Gta>Ata	p.V293I	TROVE2_ENST00000432079.1_Missense_Mutation_p.V18I|TROVE2_ENST00000367443.1_Missense_Mutation_p.V293I|TROVE2_ENST00000367445.3_Missense_Mutation_p.V293I|TROVE2_ENST00000400968.2_Missense_Mutation_p.V293I|TROVE2_ENST00000367444.3_Missense_Mutation_p.V293I|TROVE2_ENST00000416058.2_Missense_Mutation_p.V18I|TROVE2_ENST00000367441.1_Missense_Mutation_p.V293I|TROVE2_ENST00000460715.2_3'UTR	NM_004600.5	NP_004591.2	P10155	RO60_HUMAN	TROVE domain family, member 2	293	TROVE. {ECO:0000255|PROSITE- ProRule:PRU00343}.				cilium morphogenesis (GO:0060271)|immune system development (GO:0002520)|response to UV (GO:0009411)|smoothened signaling pathway (GO:0007224)|transcription from RNA polymerase III promoter (GO:0006383)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	metal ion binding (GO:0046872)|RNA binding (GO:0003723)|U2 snRNA binding (GO:0030620)			biliary_tract(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|urinary_tract(1)	21						TGCTAATTCAGTACTTGAACC	0.323																																						ENST00000432079.1																			0				biliary_tract(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|urinary_tract(1)	21						c.(52-54)Gta>Ata		TROVE domain family, member 2							114	109	111					1																	193045706		1823	4082	5905	SO:0001583	missense	6738				transcription from RNA polymerase III promoter	cytoplasm|nucleus|ribonucleoprotein complex	protein binding|RNA binding	g.chr1:193045706G>A	BC036658	CCDS41449.1, CCDS1379.1, CCDS41450.1, CCDS41450.2, CCDS53451.1	1q31	2014-08-06	2005-06-14	2005-06-14	ENSG00000116747	ENSG00000116747			11313	protein-coding gene	gene with protein product		600063	"Sjogren syndrome antigen A2 (60kDa, ribonucleoprotein autoantigen SS-A/Ro)"	SSA2		8188321	Standard	NM_001042369		Approved	Ro60	uc001gss.3	P10155	OTTHUMG00000035675	ENST00000367446.3:c.877G>A	1.37:g.193045706G>A	ENSP00000356416:p.Val293Ile					TROVE2_ENST00000416058.2_Missense_Mutation_p.V18I|TROVE2_ENST00000460715.2_3'UTR|TROVE2_ENST00000367443.1_Missense_Mutation_p.V293I|TROVE2_ENST00000367445.3_Missense_Mutation_p.V293I|TROVE2_ENST00000400968.2_Missense_Mutation_p.V293I|TROVE2_ENST00000367441.1_Missense_Mutation_p.V293I|TROVE2_ENST00000367444.3_Missense_Mutation_p.V293I|TROVE2_ENST00000367446.3_Missense_Mutation_p.V293I	p.V18I			P10155	RO60_HUMAN			3	620	+			293			TROVE.		B2RBB9|Q5LJ98|Q5LJ99|Q5LJA0|Q86WL3|Q86WL4|Q92787|Q9H1W6	Missense_Mutation	SNP	ENST00000367446.3	37	c.52G>A	CCDS1379.1	.	.	.	.	.	.	.	.	.	.	G	16.36	3.101012	0.56183	.	.	ENSG00000116747	ENST00000400968;ENST00000416058;ENST00000367446;ENST00000367443;ENST00000367445;ENST00000367444;ENST00000367441	T;T;T;T;T;T;T	0.19806	2.12;2.12;2.12;2.12;2.12;2.12;2.12	5.38	5.38	0.77491	TROVE (2);	0.058866	0.64402	D	0.000002	T	0.28499	0.0705	L	0.49640	1.575	0.46478	D	0.999067	B;B;B;B	0.22211	0.022;0.022;0.066;0.041	B;B;B;B	0.35971	0.215;0.215;0.156;0.2	T	0.05484	-1.0882	10	0.21540	T	0.41	-19.9204	19.5625	0.95378	0.0:0.0:1.0:0.0	.	293;293;293;293	Q5LJ99;Q5LJ98;Q5LJA0;P10155	.;.;.;RO60_HUMAN	I	293;18;293;293;293;293;293	ENSP00000383752:V293I;ENSP00000411421:V18I;ENSP00000356416:V293I;ENSP00000356413:V293I;ENSP00000356415:V293I;ENSP00000356414:V293I;ENSP00000356411:V293I	ENSP00000356411:V293I	V	+	1	0	TROVE2	191312329	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.841000	0.62824	2.700000	0.92200	0.558000	0.71614	GTA		0.323	TROVE2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000086688.1	NM_004600		61	176	0	0	0	1	0	61	176					A	193045706	G	A	193045706	3	1	406	1	0	0	0	0	1	0	0	0	16573	1029	36	3	887	3	TROVE2	1	193045706	Missense_Mutation	SNP	G	TCGA-VN-A88Q-01A-11D-A34U-08	21959454	193045706	56204915	2	19735											
SLC41A1	254428	broad.mit.edu	37	chr1	205767940	205767940	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgatgactccaatcatgatcAtacctggtgagcaagtggga	12	10	11	8	0	2	4	2	4	0	0	3	5	3	5	2	2	2	1	2	2	3	1			TCGA-VN-A88Q-01A-11D-A34U-08	TCGA-VN-A88Q-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01ba16d8-9bb6-47e4-a32c-887197f7b36d	3d8fd88e-7661-4504-aa5b-a45bb03b8ee1	g.chr1:205767940A>G	ENST00000367137.3	-	6	1715	c.701T>C	c.(700-702)aTg>aCg	p.M234T	SLC41A1_ENST00000468057.1_5'UTR	NM_173854.4	NP_776253.3	Q8IVJ1	S41A1_HUMAN	solute carrier family 41 (magnesium transporter), member 1	234					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cation transmembrane transporter activity (GO:0008324)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	17	Breast(84;0.0799)		BRCA - Breast invasive adenocarcinoma(75;0.0252)			AATCATGATCATACCTGGTGA	0.532																																						ENST00000367137.3																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	17						c.(700-702)aTg>aCg		solute carrier family 41 (magnesium transporter), member 1							86	85	85					1																	205767940		2203	4300	6503	SO:0001583	missense	254428					integral to membrane|plasma membrane	magnesium ion transmembrane transporter activity	g.chr1:205767940A>G	AJ514402	CCDS30988.1	1q32.1	2013-07-17	2013-07-17		ENSG00000133065	ENSG00000133065		"Solute carriers"	19429	protein-coding gene	gene with protein product		610801				12810078, 18367447	Standard	NM_173854		Approved	MgtE	uc001hdh.1	Q8IVJ1	OTTHUMG00000036000	ENST00000367137.3:c.701T>C	1.37:g.205767940A>G	ENSP00000356105:p.Met234Thr					SLC41A1_ENST00000468057.1_5'UTR	p.M234T	NM_173854.4	NP_776253.3	Q8IVJ1	S41A1_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.0252)		6	1715	-	Breast(84;0.0799)		234					Q63HJ4|Q658Z5|Q659A4|Q6MZK2	Missense_Mutation	SNP	ENST00000367137.3	37	c.701T>C	CCDS30988.1	.	.	.	.	.	.	.	.	.	.	A	13.97	2.397324	0.42512	.	.	ENSG00000133065	ENST00000367137	T	0.28069	1.63	5.71	5.71	0.89125	MgtE magnesium transporter, integral membrane (1);	0.089188	0.85682	D	0.000000	T	0.13457	0.0326	N	0.01640	-0.785	0.53005	D	0.999966	B	0.09022	0.002	B	0.17098	0.017	T	0.18366	-1.0339	10	0.19590	T	0.45	-10.0138	15.6324	0.76920	1.0:0.0:0.0:0.0	.	234	Q8IVJ1	S41A1_HUMAN	T	234	ENSP00000356105:M234T	ENSP00000356105:M234T	M	-	2	0	SLC41A1	204034563	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	8.962000	0.93254	2.182000	0.69389	0.533000	0.62120	ATG		0.532	SLC41A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087731.1			48	48	0	0	0	1	0	48	48					G	205767940	A	G	205767940	3	3	406	1	0	0	0	0	1	0	0	0	14629	217	8	4	864	4	SLC41A1	1	205767940	Missense_Mutation	SNP	A	TCGA-VN-A88Q-01A-11D-A34U-08	12722234	205767940	43482681	3	19736											
IL24	11009	broad.mit.edu	37	chr1	207075401	207075401	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caggcggtttctgctattccGgagagcattcaaacaggtaa	11	10	11	9	2	2	1	1	0	1	1	3	2	3	1	1	4	3	4	1	4	3	5	rs539103349		TCGA-VN-A88Q-01A-11D-A34U-08	TCGA-VN-A88Q-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01ba16d8-9bb6-47e4-a32c-887197f7b36d	3d8fd88e-7661-4504-aa5b-a45bb03b8ee1	g.chr1:207075401G>A	ENST00000294984.2	+	6	795	c.521G>A	c.(520-522)cGg>cAg	p.R174Q	FAIM3_ENST00000528654.1_5'Flank|IL24_ENST00000367093.3_Missense_Mutation_p.R122Q|IL24_ENST00000491169.1_3'UTR|IL24_ENST00000391929.3_Missense_Mutation_p.R175Q	NM_001185156.1|NM_006850.3	NP_001172085.1|NP_006841.1	Q13007	IL24_HUMAN	interleukin 24	174					apoptotic process (GO:0006915)|cellular response to interleukin-4 (GO:0071353)|cellular response to lipopolysaccharide (GO:0071222)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|serine phosphorylation of STAT3 protein (GO:0033136)|wound healing (GO:0042060)	endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)				endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	12	Breast(84;0.201)					CTGCTATTCCGGAGAGCATTC	0.473													G|||	1	0.000199681	0	0	5008	,	,		17532	0		0.001	False		,,,				2504	0					ENST00000367093.3																			0				endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	12						c.(364-366)cGg>cAg		interleukin 24							91	90	91					1																	207075401		2203	4300	6503	SO:0001583	missense	11009				apoptosis	extracellular space	cytokine activity	g.chr1:207075401G>A	U16261	CCDS1471.1, CCDS53465.1, CCDS53466.1, CCDS73021.1	1q32	2011-07-15		2001-06-29	ENSG00000162892	ENSG00000162892		"Interleukins and interleukin receptors"	11346	protein-coding gene	gene with protein product	"melanoma differentiation association protein 7", "suppression of tumorigenicity 16 (melanoma differentiation)", "IL-4-induced secreted protein"	604136		ST16		8545104, 8799171	Standard	NM_001185156		Approved	mda-7, IL10B, Mob-5, C49A, FISP, IL-24	uc001heu.2	Q13007	OTTHUMG00000036459	ENST00000294984.2:c.521G>A	1.37:g.207075401G>A	ENSP00000294984:p.Arg174Gln					IL24_ENST00000491169.1_3'UTR|IL24_ENST00000391929.3_Missense_Mutation_p.R175Q|IL24_ENST00000294984.2_Missense_Mutation_p.R174Q	p.R122Q	NM_001185157.1|NM_001185158.1	NP_001172086.1|NP_001172087.1	Q13007	IL24_HUMAN			5	639	+	Breast(84;0.201)		174					Q2YHE5|Q53XZ7|Q5YLN8|Q96DB0|Q96KG4	Missense_Mutation	SNP	ENST00000294984.2	37	c.365G>A	CCDS1471.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	0.214|0.214	-1.034268|-1.034268	0.02029|0.02029	.|.	.|.	ENSG00000162892|ENSG00000162892	ENST00000480741|ENST00000391929;ENST00000294984;ENST00000367093	.|T;T;T	.|0.17528	.|2.27;2.27;2.27	4.86|4.86	-0.643|-0.643	0.11482|0.11482	.|Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	.|1.057120	.|0.07412	.|N	.|0.892629	T|T	0.10380|0.10380	0.0254|0.0254	.|.	.|.	.|.	0.09310|0.09310	N|N	1|1	.|B;B;B	.|0.12630	.|0.006;0.0;0.0	.|B;B;B	.|0.09377	.|0.004;0.0;0.0	T|T	0.39860|0.39860	-0.9593|-0.9593	5|9	0.87932|0.24483	D|T	0|0.36	.|.	8.0167|8.0167	0.30385|0.30385	0.5702:0.0:0.4298:0.0|0.5702:0.0:0.4298:0.0	.|.	.|122;175;174	.|Q2YHE5;Q53XZ7;Q13007	.|.;.;IL24_HUMAN	R|Q	56|175;174;122	.|ENSP00000375795:R175Q;ENSP00000294984:R174Q;ENSP00000356060:R122Q	ENSP00000418933:G56R|ENSP00000294984:R174Q	G|R	+|+	1|2	0|0	IL24|IL24	205142024|205142024	0.032000|0.032000	0.19561|0.19561	0.012000|0.012000	0.15200|0.15200	0.306000|0.306000	0.27790|0.27790	0.090000|0.090000	0.15025|0.15025	-0.275000|-0.275000	0.09219|0.09219	-0.345000|-0.345000	0.07892|0.07892	GGA|CGG		0.473	IL24-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000088680.2	NM_006850		6	76	0	0	0	1	0	6	76					A	207075401	G	A	207075401	3	1	406	1	0	0	0	0	1	0	0	0	7677	1117	39	2	542	2	IL24	1	207075401	Missense_Mutation	SNP	G	TCGA-VN-A88Q-01A-11D-A34U-08	1307461	207075401	42175220	4	19737											
PARP1	142	broad.mit.edu	37	chr1	226570790	226570790	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccgaggctgtggagggcggaGgcgtggccgccacggaggcg	5	3	22	11	6	0	0	0	0	0	0	0	4	0	3	3	8	0	1	3	8	0	0			TCGA-VN-A88Q-01A-11D-A34U-08	TCGA-VN-A88Q-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01ba16d8-9bb6-47e4-a32c-887197f7b36d	3d8fd88e-7661-4504-aa5b-a45bb03b8ee1	g.chr1:226570790G>A	ENST00000366794.5	-	8	1249	c.1106C>T	c.(1105-1107)cCt>cTt	p.P369L		NM_001618.3	NP_001609.2	P09874	PARP1_HUMAN	poly (ADP-ribose) polymerase 1	369					base-excision repair (GO:0006284)|cellular response to insulin stimulus (GO:0032869)|DNA damage response, detection of DNA damage (GO:0042769)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|gene expression (GO:0010467)|macrophage differentiation (GO:0030225)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription regulatory region DNA binding (GO:2000679)|protein ADP-ribosylation (GO:0006471)|protein autoprocessing (GO:0016540)|protein poly-ADP-ribosylation (GO:0070212)|regulation of growth rate (GO:0040009)|signal transduction involved in regulation of gene expression (GO:0023019)|telomere maintenance (GO:0000723)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|NAD binding (GO:0051287)|NAD+ ADP-ribosyltransferase activity (GO:0003950)|poly(A) RNA binding (GO:0044822)|protein N-terminus binding (GO:0047485)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			breast(2)|endometrium(4)|kidney(4)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	44	Breast(184;0.133)			GBM - Glioblastoma multiforme(131;0.0531)		GGAGGGCGGAGGCGTGGCCGC	0.532								Poly(ADP-ribose) polymerase (PARP) enzymes that bind to DNA																														ENST00000366794.5																			0				breast(2)|endometrium(4)|kidney(4)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	44						c.(1105-1107)cCt>cTt	Poly(ADP-ribose) polymerase (PARP) enzymes that bind to DNA	poly (ADP-ribose) polymerase 1							75	97	89					1																	226570790		2203	4300	6503	SO:0001583	missense	142				cellular response to insulin stimulus|protein ADP-ribosylation|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nuclear envelope|nucleolus|transcription factor complex	DNA binding|identical protein binding|NAD+ ADP-ribosyltransferase activity|protein N-terminus binding|transcription factor binding|zinc ion binding	g.chr1:226570790G>A	BC037545	CCDS1554.1	1q41-q42	2010-02-16	2008-07-28	2004-08-26	ENSG00000143799	ENSG00000143799	2.4.2.30	"Poly (ADP-ribose) polymerases"	270	protein-coding gene	gene with protein product		173870	"ADP-ribosyltransferase (NAD+; poly (ADP-ribose) polymerase)", "poly (ADP-ribose) polymerase family, member 1"	PPOL, ADPRT		10964595	Standard	NM_001618		Approved	PARP	uc001hqd.4	P09874	OTTHUMG00000037556	ENST00000366794.5:c.1106C>T	1.37:g.226570790G>A	ENSP00000355759:p.Pro369Leu						p.P369L	NM_001618.3	NP_001609.2	P09874	PARP1_HUMAN		GBM - Glioblastoma multiforme(131;0.0531)	8	1249	-	Breast(184;0.133)		369					B1ANJ4|Q8IUZ9	Missense_Mutation	SNP	ENST00000366794.5	37	c.1106C>T	CCDS1554.1	.	.	.	.	.	.	.	.	.	.	G	12.68	2.011598	0.35511	.	.	ENSG00000143799	ENST00000366794	T	0.09445	2.98	5.26	3.36	0.38483	.	0.332353	0.36444	N	0.002588	T	0.05868	0.0153	N	0.08118	0	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.34900	-0.9810	10	0.30078	T	0.28	-8.9593	12.0232	0.53354	0.1304:0.0:0.8696:0.0	.	369	P09874	PARP1_HUMAN	L	369	ENSP00000355759:P369L	ENSP00000355759:P369L	P	-	2	0	PARP1	224637413	0.942000	0.31987	0.113000	0.21522	0.009000	0.06853	1.202000	0.32271	0.569000	0.29329	0.555000	0.69702	CCT		0.532	PARP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091519.1	NM_001618		67	193	0	0	0	1	0	67	193					A	226570790	G	A	226570790	3	1	406	1	0	0	0	0	1	0	0	0	11454	1000	35	3	2002	3	PARP1	1	226570790	Missense_Mutation	SNP	G	TCGA-VN-A88Q-01A-11D-A34U-08	19495389	226570790	22679831	5	19738											
RYR2	6262	broad.mit.edu	37	chr1	237619981	237619981	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actttgctgatgttgctgggCgagaagcaggagagtcttgg	8	11	16	6	1	1	3	0	1	1	2	1	5	1	3	0	3	3	4	0	3	1	3			TCGA-VN-A88Q-01A-11D-A34U-08	TCGA-VN-A88Q-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01ba16d8-9bb6-47e4-a32c-887197f7b36d	3d8fd88e-7661-4504-aa5b-a45bb03b8ee1	g.chr1:237619981C>T	ENST00000366574.2	+	16	1875	c.1558C>T	c.(1558-1560)Cga>Tga	p.R520*	RYR2_ENST00000542537.1_Nonsense_Mutation_p.R504*|RYR2_ENST00000360064.6_Nonsense_Mutation_p.R518*	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	520					BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TGTTGCTGGGCGAGAAGCAGG	0.433																																						ENST00000366574.2																			0				NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586						c.(1558-1560)Cga>Tga		ryanodine receptor 2 (cardiac)							158	155	156					1																	237619981		1935	4151	6086	SO:0001587	stop_gained	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237619981C>T	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"Ion channels / Ryanodine receptors", "EF-hand domain containing"	10484	protein-coding gene	gene with protein product		180902	"arrhythmogenic right ventricular dysplasia 2"	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.1558C>T	1.37:g.237619981C>T	ENSP00000355533:p.Arg520*					RYR2_ENST00000360064.6_Nonsense_Mutation_p.R518*|RYR2_ENST00000542537.1_Nonsense_Mutation_p.R504*	p.R520*	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		16	1875	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	520					Q15411|Q546N8|Q5T3P2	Nonsense_Mutation	SNP	ENST00000366574.2	37	c.1558C>T	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.089990	0.76756	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	.	.	.	4.6	-0.636	0.11508	.	0.410842	0.19461	U	0.113686	.	.	.	.	.	.	0.23645	N	0.997217	.	.	.	.	.	.	.	.	.	.	0.32370	T	0.25	.	3.6987	0.08374	0.4771:0.3359:0.0814:0.1056	.	.	.	.	X	520;518;504	.	ENSP00000353174:R518X	R	+	1	2	RYR2	235686604	0.254000	0.23992	0.115000	0.21578	0.121000	0.20230	0.817000	0.27281	0.002000	0.14630	-0.251000	0.11542	CGA		0.433	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		33	66	0	0	0	1	0	33	66					T	237619981	C	T	237619981	4	4	406	1	0	0	0	0	0	1	0	0	13769	760	27	1	1620	1	RYR2	1	237619981	Nonsense_Mutation	SNP	C	TCGA-VN-A88Q-01A-11D-A34U-08	11049191	237619981	11630640	6	19739											
RYR2	6262	broad.mit.edu	37	chr1	237947221	237947221	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggaatttcttttgtcttgtgCggagacggatgagaatgaaa	11	13	13	4	2	2	3	0	2	2	2	2	7	2	5	0	3	1	0	0	3	3	4			TCGA-VN-A88Q-01A-11D-A34U-08	TCGA-VN-A88Q-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01ba16d8-9bb6-47e4-a32c-887197f7b36d	3d8fd88e-7661-4504-aa5b-a45bb03b8ee1	g.chr1:237947221C>T	ENST00000366574.2	+	90	12526	c.12209C>T	c.(12208-12210)gCg>gTg	p.A4070V	RYR2_ENST00000609119.1_3'UTR|RYR2_ENST00000542537.1_Missense_Mutation_p.A4054V|RYR2_ENST00000360064.6_Missense_Mutation_p.A4076V	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4070					BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)	p.A4068V(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TTGTCTTGTGCGGAGACGGAT	0.517																																						ENST00000366574.2																			1	Substitution - Missense(1)	p.A4068V(1)	large_intestine(1)	NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586						c.(12208-12210)gCg>gTg		ryanodine receptor 2 (cardiac)							37	36	37					1																	237947221		1994	4173	6167	SO:0001583	missense	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237947221C>T	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"Ion channels / Ryanodine receptors", "EF-hand domain containing"	10484	protein-coding gene	gene with protein product		180902	"arrhythmogenic right ventricular dysplasia 2"	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.12209C>T	1.37:g.237947221C>T	ENSP00000355533:p.Ala4070Val					RYR2_ENST00000360064.6_Missense_Mutation_p.A4076V|RYR2_ENST00000542537.1_Missense_Mutation_p.A4054V	p.A4070V	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		90	12526	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	4070					Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	c.12209C>T	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	C	13.63	2.294821	0.40594	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537;ENST00000542288	T;D;T	0.82167	-0.25;-1.58;-0.25	5.85	5.85	0.93711	EF-hand-like domain (1);	0.081583	0.46758	D	0.000264	D	0.83519	0.5272	L	0.35487	1.065	0.80722	D	1	D;P	0.59357	0.985;0.883	P;B	0.55011	0.766;0.218	T	0.78209	-0.2293	10	0.14252	T	0.57	.	20.1577	0.98120	0.0:1.0:0.0:0.0	.	1044;4070	B4DGV4;Q92736	.;RYR2_HUMAN	V	4070;4076;4054;1044	ENSP00000355533:A4070V;ENSP00000353174:A4076V;ENSP00000443798:A4054V	ENSP00000353174:A4076V	A	+	2	0	RYR2	236013844	1.000000	0.71417	0.602000	0.28890	0.126000	0.20510	7.776000	0.85560	2.767000	0.95098	0.655000	0.94253	GCG		0.517	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		9	20	0	0	0	1	0	9	20					T	237947221	C	T	237947221	3	4	406	1	0	0	0	0	1	0	0	0	13769	768	27	1	12567	1	RYR2	1	237947221	Missense_Mutation	SNP	C	TCGA-VN-A88Q-01A-11D-A34U-08	327240	237947221	11303400	7	19740											
OTOF	9381	broad.mit.edu	37	chr2	26696092	26696092	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gggagcccaccagtgtgtagCgaccgaaggcccggcagtcc	8	4	15	14	3	0	0	0	0	0	0	1	3	1	1	5	3	2	2	5	3	2	1			TCGA-VN-A88Q-01A-11D-A34U-08	TCGA-VN-A88Q-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01ba16d8-9bb6-47e4-a32c-887197f7b36d	3d8fd88e-7661-4504-aa5b-a45bb03b8ee1	g.chr2:26696092C>T	ENST00000272371.2	-	29	3767	c.3641G>A	c.(3640-3642)cGc>cAc	p.R1214H	OTOF_ENST00000339598.3_Missense_Mutation_p.R467H|OTOF_ENST00000403946.3_Missense_Mutation_p.R1214H|OTOF_ENST00000338581.6_Missense_Mutation_p.R467H|OTOF_ENST00000402415.3_Missense_Mutation_p.R524H	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN	otoferlin	1214					membrane fusion (GO:0061025)|sensory perception of sound (GO:0007605)|synaptic vesicle exocytosis (GO:0016079)	cell junction (GO:0030054)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synaptic vesicle membrane (GO:0030672)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CAGTGTGTAGCGACCGAAGGC	0.672																																					GBM(102;732 1451 20652 24062 31372)	ENST00000272371.2																			0				NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106						c.(3640-3642)cGc>cAc		otoferlin							55	56	56					2																	26696092		2203	4300	6503	SO:0001583	missense	9381				cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis	basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane	calcium ion binding	g.chr2:26696092C>T	AF107403	CCDS1724.1, CCDS1725.1, CCDS1726.1, CCDS46241.1, CCDS74497.1	2p23.1	2014-06-27			ENSG00000115155	ENSG00000115155			8515	protein-coding gene	gene with protein product	"fer-1-like family member 2"	603681		DFNB9		10192385, 18381613	Standard	NM_194248		Approved	FER1L2, DFNB6	uc002rhk.3	Q9HC10	OTTHUMG00000096977	ENST00000272371.2:c.3641G>A	2.37:g.26696092C>T	ENSP00000272371:p.Arg1214His					OTOF_ENST00000403946.3_Missense_Mutation_p.R1214H|OTOF_ENST00000402415.3_Missense_Mutation_p.R524H|OTOF_ENST00000339598.3_Missense_Mutation_p.R467H|OTOF_ENST00000338581.6_Missense_Mutation_p.R467H	p.R1214H	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN			29	3767	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		1214					B4DJX0|B5MCC1|B9A0H6|Q53R90|Q9HC08|Q9HC09|Q9Y650	Missense_Mutation	SNP	ENST00000272371.2	37	c.3641G>A	CCDS1725.1	.	.	.	.	.	.	.	.	.	.	C	27.2	4.812761	0.90707	.	.	ENSG00000115155	ENST00000338581;ENST00000339598;ENST00000402415;ENST00000272371;ENST00000403946	T;T;T;T;T	0.15017	2.46;2.46;2.46;2.46;2.46	4.57	4.57	0.56435	C2 calcium-dependent membrane targeting (1);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	T	0.48822	0.1521	M	0.88377	2.95	0.80722	D	1	D;D;D;D	0.89917	1.0;0.997;1.0;0.998	D;D;D;D	0.91635	0.999;0.946;0.999;0.928	T	0.59616	-0.7421	10	0.62326	D	0.03	-22.0683	15.9217	0.79580	0.0:1.0:0.0:0.0	.	1214;467;524;467	Q9HC10;Q9HC10-2;Q9HC10-3;Q9HC10-4	OTOF_HUMAN;.;.;.	H	467;467;524;1214;1214	ENSP00000345137:R467H;ENSP00000344521:R467H;ENSP00000383906:R524H;ENSP00000272371:R1214H;ENSP00000385255:R1214H	ENSP00000272371:R1214H	R	-	2	0	OTOF	26549596	1.000000	0.71417	1.000000	0.80357	0.761000	0.43186	7.754000	0.85163	2.087000	0.62958	0.305000	0.20034	CGC		0.672	OTOF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214047.3			17	36	0	0	0	1	0	17	36					T	26696092	C	T	26696092	3	4	406	1	0	0	0	0	1	0	0	0	11303	768	27	1	2609	1	OTOF	2	26696092	Missense_Mutation	SNP	C	TCGA-VN-A88Q-01A-11D-A34U-08		26696092	216503281	8	19741											
XDH	7498	broad.mit.edu	37	chr2	31562436	31562436	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atggggatgctgccaaatgcCgggatcttgtaggtgctagg	8	10	16	7	1	1	0	0	0	1	0	1	2	1	2	2	5	4	3	2	5	3	3	rs201405596		TCGA-VN-A88Q-01A-11D-A34U-08	TCGA-VN-A88Q-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01ba16d8-9bb6-47e4-a32c-887197f7b36d	3d8fd88e-7661-4504-aa5b-a45bb03b8ee1	g.chr2:31562436C>T	ENST00000379416.3	-	34	3741	c.3693G>A	c.(3691-3693)ccG>ccA	p.P1231P		NM_000379.3	NP_000370.2	P47989	XDH_HUMAN	xanthine dehydrogenase	1231					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|lactation (GO:0007595)|negative regulation of endothelial cell differentiation (GO:0045602)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of gene expression (GO:0010629)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of vascular endothelial growth factor signaling pathway (GO:1900747)|negative regulation of vasculogenesis (GO:2001213)|nucleobase-containing small molecule metabolic process (GO:0055086)|positive regulation of p38MAPK cascade (GO:1900745)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide catabolic process (GO:0006195)|small molecule metabolic process (GO:0044281)|xanthine catabolic process (GO:0009115)	cytosol (GO:0005829)|extracellular space (GO:0005615)|peroxisome (GO:0005777)	2 iron, 2 sulfur cluster binding (GO:0051537)|electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|iron ion binding (GO:0005506)|molybdopterin cofactor binding (GO:0043546)|protein homodimerization activity (GO:0042803)|UDP-N-acetylmuramate dehydrogenase activity (GO:0008762)|xanthine dehydrogenase activity (GO:0004854)|xanthine oxidase activity (GO:0004855)			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74	Acute lymphoblastic leukemia(172;0.155)				Aldesleukin(DB00041)|Allopurinol(DB00437)|Azathioprine(DB00993)|Carboplatin(DB00958)|Carvedilol(DB01136)|Chlorphenesin(DB00856)|Cisplatin(DB00515)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Doxorubicin(DB00997)|Flavin adenine dinucleotide(DB03147)|L-Carnitine(DB00583)|Menadione(DB00170)|Mercaptopurine(DB01033)|Nitrofural(DB00336)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Spermine(DB00127)|Trifluoperazine(DB00831)	TGCCAAATGCCGGGATCTTGT	0.592													C|||	1	0.000199681	8e-04	0	5008	,	,		20525	0		0	False		,,,				2504	0				Colon(66;682 1445 30109 40147)	ENST00000379416.3																			0				breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74						c.(3691-3693)ccG>ccA		xanthine dehydrogenase	Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163)						132	125	127					2																	31562436		2203	4300	6503	SO:0001819	synonymous_variant	7498				purine nucleotide catabolic process|xanthine catabolic process	cytosol|extracellular region|peroxisome	2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity	g.chr2:31562436C>T	D11456	CCDS1775.1	2p23.1	2009-07-10	2003-03-20		ENSG00000158125	ENSG00000158125	1.17.1.4		12805	protein-coding gene	gene with protein product		607633	"xanthene dehydrogenase"			8224915	Standard	NM_000379		Approved	XOR, XO	uc002rnv.1	P47989	OTTHUMG00000099385	ENST00000379416.3:c.3693G>A	2.37:g.31562436C>T							p.P1231P	NM_000379.3	NP_000370.2	P47989	XDH_HUMAN			34	3741	-	Acute lymphoblastic leukemia(172;0.155)		1231					Q16681|Q16712|Q4PJ16	Silent	SNP	ENST00000379416.3	37	c.3693G>A	CCDS1775.1																																																																																				0.592	XDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216840.1	NM_000379		11	30	0	0	0	1	0	11	30					T	31562436	C	T	31562436	2	4	406	1	0	0	0	0	0	0	0	1	17423	639	23	2		2	XDH	2	31562436	Silent	SNP	C	TCGA-VN-A88Q-01A-11D-A34U-08	4866344	31562436	211636937	9	19742											
PLEKHH2	130271	broad.mit.edu	37	chr2	43969914	43969914	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aatatgccatttactgccagCgttgtgtagaaagaacgcaa	14	10	9	8	2	0	2	0	0	0	2	0	2	0	2	2	0	5	3	2	0	7	5			TCGA-VN-A88Q-01A-11D-A34U-08	TCGA-VN-A88Q-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01ba16d8-9bb6-47e4-a32c-887197f7b36d	3d8fd88e-7661-4504-aa5b-a45bb03b8ee1	g.chr2:43969914C>T	ENST00000282406.4	+	22	3366	c.3256C>T	c.(3256-3258)Cgt>Tgt	p.R1086C		NM_172069.3	NP_742066.2	Q8IVE3	PKHH2_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 2	1086	MyTH4. {ECO:0000255|PROSITE- ProRule:PRU00359}.				negative regulation of actin filament depolymerization (GO:0030835)	cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)	actin binding (GO:0003779)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(24)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	56		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				TTACTGCCAGCGTTGTGTAGA	0.353																																						ENST00000282406.4																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(24)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						c.(3256-3258)Cgt>Tgt		pleckstrin homology domain containing, family H (with MyTH4 domain) member 2							106	94	98					2																	43969914		2203	4300	6503	SO:0001583	missense	130271					cytoplasm|cytoskeleton|integral to membrane	binding	g.chr2:43969914C>T	AB095948	CCDS1812.1	2p22	2013-01-10			ENSG00000152527	ENSG00000152527		"Pleckstrin homology (PH) domain containing"	30506	protein-coding gene	gene with protein product		612723					Standard	NM_172069		Approved	KIAA2028, PLEKHH1L	uc010yny.2	Q8IVE3	OTTHUMG00000128657	ENST00000282406.4:c.3256C>T	2.37:g.43969914C>T	ENSP00000282406:p.Arg1086Cys						p.R1086C	NM_172069.3	NP_742066.2	Q8IVE3	PKHH2_HUMAN			22	3366	+		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	1086			MyTH4.		Q5JPJ6|Q6P4Q1|Q8N3Q3	Missense_Mutation	SNP	ENST00000282406.4	37	c.3256C>T	CCDS1812.1	.	.	.	.	.	.	.	.	.	.	C	19.00	3.742235	0.69418	.	.	ENSG00000152527	ENST00000282406	D	0.92199	-2.99	5.39	2.54	0.30619	MyTH4 domain (3);	0.000000	0.85682	D	0.000000	D	0.96278	0.8786	M	0.89353	3.025	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96013	0.9003	10	0.87932	D	0	-17.4705	14.4395	0.67306	0.3861:0.6139:0.0:0.0	.	1086	Q8IVE3	PKHH2_HUMAN	C	1086	ENSP00000282406:R1086C	ENSP00000282406:R1086C	R	+	1	0	PLEKHH2	43823418	1.000000	0.71417	0.994000	0.49952	0.848000	0.48234	1.960000	0.40422	0.223000	0.20920	-0.261000	0.10672	CGT		0.353	PLEKHH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250537.1	NM_172069		20	43	0	0	0	1	0	20	43					T	43969914	C	T	43969914	3	4	406	1	0	0	0	0	1	0	0	0	12077	768	27	1	3338	1	PLEKHH2	2	43969914	Missense_Mutation	SNP	C	TCGA-VN-A88Q-01A-11D-A34U-08	12407478	43969914	199229459	10	19743											
IL1RL1	9173	broad.mit.edu	37	chr2	102968056	102968056	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gcggcacattttcatcctgaCccctcagatcactcacaata	11	10	5	15	1	4	2	4	1	0	1	5	2	5	2	3	1	0	1	3	1	2	3			TCGA-VN-A88Q-01A-11D-A34U-08	TCGA-VN-A88Q-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01ba16d8-9bb6-47e4-a32c-887197f7b36d	3d8fd88e-7661-4504-aa5b-a45bb03b8ee1	g.chr2:102968056C>T	ENST00000233954.1	+	11	1617	c.1346C>T	c.(1345-1347)aCc>aTc	p.T449I		NM_016232.4	NP_057316.3	Q01638	ILRL1_HUMAN	interleukin 1 receptor-like 1	449	TIR. {ECO:0000255|PROSITE- ProRule:PRU00204}.				immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of T-helper 1 type immune response (GO:0002826)|positive regulation of chemokine secretion (GO:0090197)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-5 production (GO:0032754)|positive regulation of macrophage activation (GO:0043032)|signal transduction (GO:0007165)	external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)	cytokine receptor activity (GO:0004896)|interleukin-1 receptor activity (GO:0004908)|interleukin-33 receptor activity (GO:0002114)|receptor signaling protein activity (GO:0005057)			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(3)|urinary_tract(1)	16						TTCATCCTGACCCCTCAGATC	0.463																																						ENST00000233954.1																			0				NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(3)|urinary_tract(1)	16						c.(1345-1347)aCc>aTc		interleukin 1 receptor-like 1							90	83	85					2																	102968056		2203	4300	6503	SO:0001583	missense	9173				innate immune response	integral to membrane	interleukin-1 receptor activity|receptor signaling protein activity	g.chr2:102968056C>T	D12764	CCDS2057.1, CCDS2058.1, CCDS74548.1	2q12	2013-01-29			ENSG00000115602	ENSG00000115602		"Interleukins and interleukin receptors", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5998	protein-coding gene	gene with protein product	"homolog of mouse growth stimulation-expressed"	601203				1482686, 10191101, 16286016	Standard	NM_016232		Approved	ST2, FIT-1, ST2L, ST2V, DER4, T1, IL33R	uc002tbu.1	Q01638	OTTHUMG00000130782	ENST00000233954.1:c.1346C>T	2.37:g.102968056C>T	ENSP00000233954:p.Thr449Ile						p.T449I	NM_016232.4	NP_057316.3	Q01638	ILRL1_HUMAN			11	1617	+			449			TIR.		A8K6B3|B4E0I3|Q53TU7|Q8NEJ3|Q9ULV7|Q9UQ44	Missense_Mutation	SNP	ENST00000233954.1	37	c.1346C>T	CCDS2057.1	.	.	.	.	.	.	.	.	.	.	C	14.63	2.593989	0.46214	.	.	ENSG00000115602	ENST00000233954	T	0.03212	4.01	5.36	4.41	0.53225	Toll/interleukin-1 receptor homology (TIR) domain (4);	0.366911	0.25130	N	0.032901	T	0.18002	0.0432	M	0.82323	2.585	0.28733	N	0.902381	D	0.59767	0.986	D	0.65573	0.936	T	0.00802	-1.1560	10	0.72032	D	0.01	.	14.1246	0.65213	0.1818:0.8182:0.0:0.0	.	449	Q01638	ILRL1_HUMAN	I	449	ENSP00000233954:T449I	ENSP00000233954:T449I	T	+	2	0	IL1RL1	102334488	0.807000	0.29009	0.813000	0.32504	0.480000	0.33159	2.472000	0.45136	2.500000	0.84329	0.455000	0.32223	ACC		0.463	IL1RL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253296.1	NM_016232		22	46	0	0	0	1	0	22	46					T	102968056	C	T	102968056	3	4	406	1	0	0	0	0	1	0	0	0	7663	507	18	3	1401	3	IL1RL1	2	102968056	Missense_Mutation	SNP	C	TCGA-VN-A88Q-01A-11D-A34U-08	58998142	102968056	140231317	11	19744											
PTPN18	26469	broad.mit.edu	37	chr2	131116856	131116856	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tccaggaagagggacacagcGactacattaatggcaacttc	14	7	10	10	1	0	1	0	0	0	1	2	4	1	3	1	3	3	1	1	3	4	3	rs377115203		TCGA-VN-A88Q-01A-11D-A34U-08	TCGA-VN-A88Q-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01ba16d8-9bb6-47e4-a32c-887197f7b36d	3d8fd88e-7661-4504-aa5b-a45bb03b8ee1	g.chr2:131116856G>A	ENST00000175756.5	+	3	354	c.253G>A	c.(253-255)Gac>Aac	p.D85N	PTPN18_ENST00000347849.3_Intron|PTPN18_ENST00000420717.1_3'UTR	NM_014369.3	NP_055184.2	Q99952	PTN18_HUMAN	protein tyrosine phosphatase, non-receptor type 18 (brain-derived)	85	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	non-membrane spanning protein tyrosine phosphatase activity (GO:0004726)			endometrium(1)|kidney(3)|large_intestine(2)|lung(5)|ovary(3)|prostate(1)	15	Colorectal(110;0.1)					GGGACACAGCGACTACATTAA	0.552													G|||	1	0.000199681	8e-04	0	5008	,	,		20649	0		0	False		,,,				2504	0					ENST00000175756.5																			0				endometrium(1)|kidney(3)|large_intestine(2)|lung(5)|ovary(3)|prostate(1)	15						c.(253-255)Gac>Aac		protein tyrosine phosphatase, non-receptor type 18 (brain-derived)							98	100	99					2																	131116856		2203	4300	6503	SO:0001583	missense	26469					cytoplasm|nucleus	non-membrane spanning protein tyrosine phosphatase activity	g.chr2:131116856G>A	X79568	CCDS2161.1, CCDS46410.1	2q21	2011-06-09			ENSG00000072135	ENSG00000072135		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"	9649	protein-coding gene	gene with protein product		606587				8950995	Standard	NM_014369		Approved	BDP1	uc002trc.3	Q99952	OTTHUMG00000131630	ENST00000175756.5:c.253G>A	2.37:g.131116856G>A	ENSP00000175756:p.Asp85Asn					PTPN18_ENST00000347849.3_Intron|PTPN18_ENST00000420717.1_3'UTR	p.D85N	NM_014369.3	NP_055184.2	Q99952	PTN18_HUMAN			3	354	+	Colorectal(110;0.1)		85			Tyrosine-protein phosphatase.		B4E1E6|Q53P42	Missense_Mutation	SNP	ENST00000175756.5	37	c.253G>A	CCDS2161.1	.	.	.	.	.	.	.	.	.	.	G	17.72	3.459717	0.63401	.	.	ENSG00000072135	ENST00000175756;ENST00000409022	T	0.16073	2.37	4.38	3.48	0.39840	Protein-tyrosine phosphatase, receptor/non-receptor type (4);	0.000000	0.35936	N	0.002883	T	0.37293	0.0998	M	0.70903	2.155	0.49915	D	0.999837	D;D	0.89917	1.0;1.0	D;D	0.74674	0.971;0.984	T	0.11991	-1.0565	10	0.52906	T	0.07	.	10.9296	0.47209	0.0:0.191:0.809:0.0	.	85;85	E7EMB8;Q99952	.;PTN18_HUMAN	N	85	ENSP00000175756:D85N	ENSP00000175756:D85N	D	+	1	0	PTPN18	130833326	0.995000	0.38212	0.807000	0.32361	0.439000	0.31926	2.575000	0.46025	1.129000	0.42072	0.591000	0.81541	GAC		0.552	PTPN18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254523.2			15	82	0	0	0	1	0	15	82					A	131116856	G	A	131116856	3	1	406	1	0	0	0	0	1	0	0	0	12784	1058	37	2	263	2	PTPN18	2	131116856	Missense_Mutation	SNP	G	TCGA-VN-A88Q-01A-11D-A34U-08	28148800	131116856	112082517	12	19745											
LRP1B	53353	broad.mit.edu	37	chr2	141108609	141108609	+	Splice_Site	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaacttgatcttcagagccTggagattattataataaaat	16	13	7	5	0	2	4	1	1	1	3	2	5	2	4	1	1	2	0	1	1	6	6			TCGA-VN-A88Q-01A-11D-A34U-08	TCGA-VN-A88Q-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01ba16d8-9bb6-47e4-a32c-887197f7b36d	3d8fd88e-7661-4504-aa5b-a45bb03b8ee1	g.chr2:141108609T>A	ENST00000389484.3	-	77	12622		c.e77-2			NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B						protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CTTCAGAGCCTGGAGattatt	0.264										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	ENST00000389484.3																			0				NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606						c.e77-2		low density lipoprotein receptor-related protein 1B							54	59	57					2																	141108609		2201	4296	6497	SO:0001630	splice_region_variant	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141108609T>A	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"Low density lipoprotein receptors"	6693	protein-coding gene	gene with protein product	"LRP-deleted in tumors"	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.11651-2A>T	2.37:g.141108609T>A		TSP Lung(27;0.18)						NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)	77	12622	-		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)						Q8WY29|Q8WY30|Q8WY31	Splice_Site	SNP	ENST00000389484.3	37		CCDS2182.1	.	.	.	.	.	.	.	.	.	.	T	21.2	4.110304	0.77210	.	.	ENSG00000168702	ENST00000389484;ENST00000544579;ENST00000437977	.	.	.	5.72	5.72	0.89469	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.9807	0.80108	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	LRP1B	140825079	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.586000	0.82596	2.178000	0.69098	0.533000	0.62120	.		0.264	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557	Intron	21	77	0	0	0	1	0	21	77					A	141108609	T	A	141108609	5	1	406	1	0	0	0	0	0	0	1	0	8955	1594	55	5	2210	5	LRP1B	2	141108609	Splice_Site	SNP	T	TCGA-VN-A88Q-01A-11D-A34U-08	9991753	141108609	102090764	13	19746											
USP37	57695	broad.mit.edu	37	chr2	219418330	219418330	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aaacaacctcatttcctctgCatccttacttggtactttgt	9	16	4	12	0	2	0	1	0	1	0	4	0	4	0	3	1	5	2	3	1	4	5			TCGA-VN-A88Q-01A-11D-A34U-08	TCGA-VN-A88Q-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01ba16d8-9bb6-47e4-a32c-887197f7b36d	3d8fd88e-7661-4504-aa5b-a45bb03b8ee1	g.chr2:219418330C>G	ENST00000258399.3	-	5	686	c.274G>C	c.(274-276)Gca>Cca	p.A92P	USP37_ENST00000454775.1_Missense_Mutation_p.A92P|USP37_ENST00000338465.5_Missense_Mutation_p.A92P|USP37_ENST00000418019.1_Missense_Mutation_p.A92P|USP37_ENST00000415516.1_Missense_Mutation_p.A20P	NM_020935.2	NP_065986	Q86T82	UBP37_HUMAN	ubiquitin specific peptidase 37	92					G1/S transition of mitotic cell cycle (GO:0000082)|mitotic nuclear division (GO:0007067)|protein deubiquitination (GO:0016579)|protein K11-linked deubiquitination (GO:0035871)|protein K48-linked deubiquitination (GO:0071108)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|protein kinase binding (GO:0019901)|ubiquitin-specific protease activity (GO:0004843)			NS(2)|breast(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|skin(5)|stomach(1)	35		Renal(207;0.0915)		Epithelial(149;1.08e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.00375)|Lung(261;0.00487)		ATTTCCTCTGCATCCTTACTT	0.433																																						ENST00000258399.3																			0				NS(2)|breast(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|skin(5)|stomach(1)	35						c.(274-276)Gca>Cca		ubiquitin specific peptidase 37							148	128	134					2																	219418330		2203	4300	6503	SO:0001583	missense	57695				ubiquitin-dependent protein catabolic process	nucleus	cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr2:219418330C>G	AB046814	CCDS2418.1	2q35	2008-02-05	2005-08-08		ENSG00000135913	ENSG00000135913		"Ubiquitin-specific peptidases"	20063	protein-coding gene	gene with protein product			"ubiquitin specific protease 37"			12838346	Standard	NM_020935		Approved	KIAA1594	uc010fvs.1	Q86T82	OTTHUMG00000133113	ENST00000258399.3:c.274G>C	2.37:g.219418330C>G	ENSP00000258399:p.Ala92Pro					USP37_ENST00000415516.1_Missense_Mutation_p.A20P|USP37_ENST00000454775.1_Missense_Mutation_p.A92P|USP37_ENST00000338465.5_Missense_Mutation_p.A92P|USP37_ENST00000418019.1_Missense_Mutation_p.A92P	p.A92P	NM_020935.2	NP_065986.2	Q86T82	UBP37_HUMAN		Epithelial(149;1.08e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.00375)|Lung(261;0.00487)	5	686	-		Renal(207;0.0915)	92					A2RUQ8|B7ZM38|B7ZM41|E9PHL3|Q2KHT2|Q53S10|Q7Z3A5|Q9HCH8	Missense_Mutation	SNP	ENST00000258399.3	37	c.274G>C	CCDS2418.1	.	.	.	.	.	.	.	.	.	.	C	24.1	4.489167	0.84962	.	.	ENSG00000135913	ENST00000258399;ENST00000454775;ENST00000415516;ENST00000418019;ENST00000338465	T;T;T;T;T	0.55588	0.59;0.59;0.54;0.59;0.51	5.19	5.19	0.71726	.	0.120254	0.56097	D	0.000038	T	0.71467	0.3343	M	0.71036	2.16	0.58432	D	0.999997	D;D;D	0.89917	1.0;0.999;0.999	D;D;D	0.71414	0.973;0.952;0.92	T	0.74856	-0.3522	10	0.72032	D	0.01	-12.1069	16.8923	0.86090	0.0:1.0:0.0:0.0	.	92;20;92	Q86W68;Q86T82-2;Q86T82	.;.;UBP37_HUMAN	P	92;92;20;92;92	ENSP00000258399:A92P;ENSP00000393662:A92P;ENSP00000400902:A20P;ENSP00000396585:A92P;ENSP00000345043:A92P	ENSP00000258399:A92P	A	-	1	0	USP37	219126574	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	4.932000	0.63476	2.433000	0.82419	0.561000	0.74099	GCA		0.433	USP37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256779.3	NM_020935		3	67	0	0	0	1	0	3	67					G	219418330	C	G	219418330	3	3	406	1	0	0	0	0	1	0	0	0	17065	710	25	5	2753	5	USP37	2	219418330	Missense_Mutation	SNP	C	TCGA-VN-A88Q-01A-11D-A34U-08	78309721	219418330	23781043	14	19747											
ALS2CL	259173	broad.mit.edu	37	chr3	46721979	46721979	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	acctgcctgggtgaccatgaCccctgggccgtggcgctgac	5	7	14	15	2	0	3	0	3	0	0	0	3	0	3	6	3	1	1	6	3	0	0			TCGA-VN-A88Q-01A-11D-A34U-08	TCGA-VN-A88Q-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01ba16d8-9bb6-47e4-a32c-887197f7b36d	3d8fd88e-7661-4504-aa5b-a45bb03b8ee1	g.chr3:46721979C>T	ENST00000318962.4	-	14	1572	c.1489G>A	c.(1489-1491)Gtc>Atc	p.V497I	ALS2CL_ENST00000415953.1_Missense_Mutation_p.V497I	NM_147129.3	NP_667340.2	Q60I27	AL2CL_HUMAN	ALS2 C-terminal like	497					endosome organization (GO:0007032)|protein localization (GO:0008104)	cytoplasmic membrane-bounded vesicle (GO:0016023)	GTPase activator activity (GO:0005096)|identical protein binding (GO:0042802)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(3)|stomach(2)	29				BRCA - Breast invasive adenocarcinoma(193;0.000726)|KIRC - Kidney renal clear cell carcinoma(197;0.0171)|Kidney(197;0.0202)		GTGACCATGACCCCTGGGCCG	0.602																																						ENST00000318962.4																			0				NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(3)|stomach(2)	29						c.(1489-1491)Gtc>Atc		ALS2 C-terminal like							96	88	90					3																	46721979		2203	4300	6503	SO:0001583	missense	259173				endosome organization|regulation of Rho protein signal transduction		GTPase activator activity|identical protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr3:46721979C>T	AK074118	CCDS2743.1, CCDS43080.1	3p21.31	2008-01-30			ENSG00000178038	ENSG00000178038			20605	protein-coding gene	gene with protein product		612402				15388334, 8889548, 17239822	Standard	NM_147129		Approved	FLJ36525, RN49018, DKFZp686I0110	uc003cqb.2	Q60I27	OTTHUMG00000128673	ENST00000318962.4:c.1489G>A	3.37:g.46721979C>T	ENSP00000313670:p.Val497Ile					ALS2CL_ENST00000415953.1_Missense_Mutation_p.V497I	p.V497I	NM_147129.3	NP_667340.2	Q60I27	AL2CL_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000726)|KIRC - Kidney renal clear cell carcinoma(197;0.0171)|Kidney(197;0.0202)	14	1572	-			497					Q32MA1|Q6AI56|Q6ZNC5|Q6ZNC7|Q6ZTL4|Q86YD2|Q8N9U1|Q8NAL7	Missense_Mutation	SNP	ENST00000318962.4	37	c.1489G>A	CCDS2743.1	.	.	.	.	.	.	.	.	.	.	C	10.39	1.336985	0.24253	.	.	ENSG00000178038	ENST00000318962;ENST00000415953	T;T	0.60040	0.22;0.22	4.55	1.46	0.22682	.	0.210447	0.30999	N	0.008456	T	0.33498	0.0865	N	0.17872	0.535	0.42739	D	0.99373	B	0.11235	0.004	B	0.09377	0.004	T	0.05338	-1.0891	10	0.15952	T	0.53	.	5.8454	0.18663	0.0:0.5642:0.0:0.4358	.	497	Q60I27	AL2CL_HUMAN	I	497	ENSP00000313670:V497I;ENSP00000413223:V497I	ENSP00000313670:V497I	V	-	1	0	ALS2CL	46696983	0.692000	0.27719	0.453000	0.27007	0.764000	0.43329	0.980000	0.29513	0.515000	0.28320	0.462000	0.41574	GTC		0.602	ALS2CL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250567.3	NM_147129		10	47	0	0	0	1	0	10	47					T	46721979	C	T	46721979	3	4	406	1	0	0	0	0	1	0	0	0	551	507	18	3	1424	3	ALS2CL	3	46721979	Missense_Mutation	SNP	C	TCGA-VN-A88Q-01A-11D-A34U-08		46721979	151300451	15	19748											
C3orf18	51161	broad.mit.edu	37	chr3	50603088	50603088	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agactcagaggtgggtgggcGgctgctgaaccagcccctag	8	6	16	11	1	1	3	1	1	0	2	1	3	1	3	3	4	3	2	3	4	2	1			TCGA-VN-A88Q-01A-11D-A34U-08	TCGA-VN-A88Q-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01ba16d8-9bb6-47e4-a32c-887197f7b36d	3d8fd88e-7661-4504-aa5b-a45bb03b8ee1	g.chr3:50603088G>A	ENST00000357203.3	-	3	582	c.43C>T	c.(43-45)Cgc>Tgc	p.R15C	C3orf18_ENST00000486175.1_Intron|C3orf18_ENST00000426034.1_Missense_Mutation_p.R15C|C3orf18_ENST00000441239.1_Missense_Mutation_p.R15C|C3orf18_ENST00000449241.1_Missense_Mutation_p.R15C	NM_016210.4	NP_057294.2	Q9UK00	CC018_HUMAN	chromosome 3 open reading frame 18	15						integral component of membrane (GO:0016021)				lung(1)|pancreas(1)|skin(1)	3				BRCA - Breast invasive adenocarcinoma(193;0.000278)|KIRC - Kidney renal clear cell carcinoma(197;0.0175)|Kidney(197;0.0207)		GTGGGTGGGCGGCTGCTGAAC	0.627																																						ENST00000357203.3																			0				lung(1)|pancreas(1)|skin(1)	3						c.(43-45)Cgc>Tgc		chromosome 3 open reading frame 18							52	45	47					3																	50603088		2201	4299	6500	SO:0001583	missense	51161					integral to membrane		g.chr3:50603088G>A	AF188706	CCDS2829.1, CCDS54589.1	3p21.3	2006-01-11			ENSG00000088543	ENSG00000088543			24837	protein-coding gene	gene with protein product						12477932	Standard	NM_016210		Approved	G20	uc010hlp.3	Q9UK00	OTTHUMG00000156854	ENST00000357203.3:c.43C>T	3.37:g.50603088G>A	ENSP00000349732:p.Arg15Cys					C3orf18_ENST00000441239.1_Missense_Mutation_p.R15C|C3orf18_ENST00000426034.1_Missense_Mutation_p.R15C|C3orf18_ENST00000486175.1_Intron|C3orf18_ENST00000449241.1_Missense_Mutation_p.R15C	p.R15C	NM_016210.4	NP_057294.2	Q9UK00	CC018_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000278)|KIRC - Kidney renal clear cell carcinoma(197;0.0175)|Kidney(197;0.0207)	3	582	-			15					C9JNP0	Missense_Mutation	SNP	ENST00000357203.3	37	c.43C>T	CCDS2829.1	.	.	.	.	.	.	.	.	.	.	G	16.55	3.153993	0.57259	.	.	ENSG00000088543	ENST00000426034;ENST00000357203;ENST00000449241;ENST00000441239	T;T;T;T	0.45276	0.9;0.9;0.9;1.51	5.24	2.11	0.27256	.	0.467849	0.23189	N	0.050926	T	0.22244	0.0536	N	0.14661	0.345	0.80722	D	1	B;P	0.46064	0.001;0.872	B;B	0.39840	0.001;0.311	T	0.02781	-1.1111	10	0.54805	T	0.06	0.8764	6.3159	0.21190	0.0951:0.0:0.4121:0.4928	.	15;15	C9JNP0;Q9UK00	.;CC018_HUMAN	C	15	ENSP00000387606:R15C;ENSP00000349732:R15C;ENSP00000404913:R15C;ENSP00000414124:R15C	ENSP00000349732:R15C	R	-	1	0	C3orf18	50578092	0.682000	0.27624	0.963000	0.40424	0.933000	0.57130	0.830000	0.27462	0.594000	0.29761	0.462000	0.41574	CGC		0.627	C3orf18-014	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346260.2	NM_016210		5	31	0	0	0	1	0	5	31					A	50603088	G	A	50603088	3	1	406	1	0	0	0	0	1	0	0	0	2211	1116	39	2	461	2	C3orf18	3	50603088	Missense_Mutation	SNP	G	TCGA-VN-A88Q-01A-11D-A34U-08	3881109	50603088	147419342	16	19749											
CCDC39	339829	broad.mit.edu	37	chr3	180378437	180378437	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tatgagctgattcttctaacCaggcctccaatgcttgctgg	8	13	9	11	0	2	2	0	2	2	0	3	2	3	2	3	2	4	3	3	2	3	5			TCGA-VN-A88Q-01A-11D-A34U-08	TCGA-VN-A88Q-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01ba16d8-9bb6-47e4-a32c-887197f7b36d	3d8fd88e-7661-4504-aa5b-a45bb03b8ee1	g.chr3:180378437C>A	ENST00000442201.2	-	4	556	c.437G>T	c.(436-438)tGg>tTg	p.W146L	CCDC39_ENST00000273654.4_Missense_Mutation_p.W230L	NM_181426.1	NP_852091.1	Q9UFE4	CCD39_HUMAN	coiled-coil domain containing 39	146					axonemal dynein complex assembly (GO:0070286)|cilium-dependent cell motility (GO:0060285)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of liver left/right asymmetry (GO:0071910)|determination of pancreatic left/right asymmetry (GO:0035469)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|heart looping (GO:0001947)|lung development (GO:0030324)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)				NS(1)|breast(1)|endometrium(4)|large_intestine(9)|lung(22)|ovary(6)|prostate(2)	45	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)			TTCTTCTAACCAGGCCTCCAA	0.373																																						ENST00000273654.4																			0				NS(1)|breast(1)|endometrium(4)|large_intestine(9)|lung(22)|ovary(6)|prostate(2)	45						c.(688-690)tGg>tTg		coiled-coil domain containing 39							106	95	99					3																	180378437		1842	4091	5933	SO:0001583	missense	339829				axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium axoneme|cytoplasm|cytoskeleton		g.chr3:180378437C>A	BC047103	CCDS46964.1	3q26.33	2012-07-27			ENSG00000145075	ENSG00000145075			25244	protein-coding gene	gene with protein product		613798				21131972	Standard	NM_181426		Approved	DKFZp434A128, CILD14, FAP59	uc010hxe.3	Q9UFE4	OTTHUMG00000157857	ENST00000442201.2:c.437G>T	3.37:g.180378437C>A	ENSP00000405708:p.Trp146Leu					CCDC39_ENST00000442201.2_Missense_Mutation_p.W146L	p.W230L			Q9UFE4	CCD39_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)		10	1308	-	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		146					B4E2H1	Missense_Mutation	SNP	ENST00000442201.2	37	c.689G>T	CCDS46964.1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.280212	0.80692	.	.	ENSG00000145075	ENST00000273654;ENST00000442201	.	.	.	5.6	5.6	0.85130	.	0.108661	0.64402	D	0.000003	T	0.76062	0.3935	M	0.74881	2.28	0.47341	D	0.999397	D	0.62365	0.991	P	0.59643	0.861	T	0.71629	-0.4535	9	0.22109	T	0.4	-8.3073	19.2793	0.94046	0.0:1.0:0.0:0.0	.	146	Q9UFE4	CCD39_HUMAN	L	230;146	.	ENSP00000273654:W230L	W	-	2	0	CCDC39	181861131	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	4.261000	0.58841	2.653000	0.90120	0.585000	0.79938	TGG		0.373	CCDC39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349783.3	XM_291028		8	6	1	0	1.58986e-06	1	1.6721e-06	8	6					A	180378437	C	A	180378437	3	1	406	1	0	0	0	0	1	0	0	0	2811	595	21	5	2456	5	CCDC39	3	180378437	Missense_Mutation	SNP	C	TCGA-VN-A88Q-01A-11D-A34U-08	129775349	180378437	17643993	17	19750											
GABRA4	2557	broad.mit.edu	37	chr4	46976285	46976285	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtttcacttgatacggtttGcccaatcaaatcatattgaa	12	14	7	8	1	3	2	3	2	0	0	3	2	3	2	1	2	2	2	1	2	5	6	rs75640222		TCGA-VN-A88Q-01A-11D-A34U-08	TCGA-VN-A88Q-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01ba16d8-9bb6-47e4-a32c-887197f7b36d	3d8fd88e-7661-4504-aa5b-a45bb03b8ee1	g.chr4:46976285G>T	ENST00000264318.3	-	6	1667	c.685C>A	c.(685-687)Caa>Aaa	p.Q229K		NM_000809.3|NM_001204266.1|NM_001204267.1	NP_000800.2|NP_001191195.1|NP_001191196.1	P48169	GBRA4_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 4	229					central nervous system development (GO:0007417)|gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|regulation of response to drug (GO:2001023)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	benzodiazepine receptor activity (GO:0008503)|chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45					Acamprosate(DB00659)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)	GATACGGTTTGCCCAATCAAA	0.398																																					Ovarian(6;283 369 8234 12290 33402)	ENST00000264318.3																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						c.(685-687)Caa>Aaa		gamma-aminobutyric acid (GABA) A receptor, alpha 4	Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)						122	112	116					4																	46976285		2203	4300	6503	SO:0001583	missense	2557				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chr4:46976285G>T		CCDS3473.1	4p12	2012-06-22			ENSG00000109158	ENSG00000109158		"GABA receptors", "Ligand-gated ion channels / GABA(A) receptors"	4078	protein-coding gene	gene with protein product	"GABA(A) receptor, alpha 4"	137141				7607683	Standard	NM_000809		Approved		uc021xnz.1	P48169	OTTHUMG00000099431	ENST00000264318.3:c.685C>A	4.37:g.46976285G>T	ENSP00000264318:p.Gln229Lys						p.Q229K	NM_000809.3|NM_001204266.1|NM_001204267.1	NP_000800.2|NP_001191195.1|NP_001191196.1	P48169	GBRA4_HUMAN			6	1667	-			229					Q8IYR7	Missense_Mutation	SNP	ENST00000264318.3	37	c.685C>A	CCDS3473.1	.	.	.	.	.	.	.	.	.	.	G	31	5.100764	0.94245	.	.	ENSG00000109158	ENST00000264318	T	0.79033	-1.23	5.34	5.34	0.76211	Neurotransmitter-gated ion-channel ligand-binding (3);	0.054023	0.85682	D	0.000000	D	0.84750	0.5541	L	0.56769	1.78	0.54753	D	0.999989	D	0.55800	0.973	P	0.62089	0.898	T	0.82323	-0.0514	10	0.33940	T	0.23	.	18.22	0.89898	0.0:0.0:1.0:0.0	.	229	P48169	GBRA4_HUMAN	K	229	ENSP00000264318:Q229K	ENSP00000264318:Q229K	Q	-	1	0	GABRA4	46671042	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	9.657000	0.98554	2.774000	0.95407	0.650000	0.86243	CAA		0.398	GABRA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216893.1			12	122	1	0	5.50884e-06	1	5.60065e-06	12	122					T	46976285	G	T	46976285	3	4	406	1	0	0	0	0	1	0	0	0	6163	1328	46	5	995	5	GABRA4	4	46976285	Missense_Mutation	SNP	G	TCGA-VN-A88Q-01A-11D-A34U-08		46976285	144177991	18	19751											
SH3RF1	57630	broad.mit.edu	37	chr4	170043369	170043369	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcctggtggtgtggaggcaaGgacagtggcagccaggagag	9	5	20	7	0	0	1	0	0	0	1	0	4	0	3	2	7	1	2	2	7	1	0			TCGA-VN-A88Q-01A-11D-A34U-08	TCGA-VN-A88Q-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01ba16d8-9bb6-47e4-a32c-887197f7b36d	3d8fd88e-7661-4504-aa5b-a45bb03b8ee1	g.chr4:170043369G>A	ENST00000284637.9	-	7	1569	c.1228C>T	c.(1228-1230)Ctt>Ttt	p.L410F	SH3RF1_ENST00000508685.1_5'UTR	NM_020870.3	NP_065921.2	Q7Z6J0	SH3R1_HUMAN	SH3 domain containing ring finger 1	410					negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|protein ubiquitination (GO:0016567)|regulation of JNK cascade (GO:0046328)	cell projection (GO:0042995)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(10)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	31		Prostate(90;0.00267)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0287)		GTGGAGGCAAGGACAGTGGCA	0.542																																						ENST00000284637.9																			0				NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(10)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	31						c.(1228-1230)Ctt>Ttt		SH3 domain containing ring finger 1							40	36	37					4																	170043369		2203	4299	6502	SO:0001583	missense	57630					Golgi apparatus|lamellipodium|perinuclear region of cytoplasm	ligase activity|zinc ion binding	g.chr4:170043369G>A	BC033203	CCDS34099.1	4q32.3	2013-01-09	2006-02-13	2006-02-13	ENSG00000154447	ENSG00000154447		"RING-type (C3HC4) zinc fingers"	17650	protein-coding gene	gene with protein product	"plenty of SH3 domains"		"SH3 multiple domains 2"	SH3MD2		9482736	Standard	NM_020870		Approved	POSH, RNF142, KIAA1494	uc003isa.1	Q7Z6J0	OTTHUMG00000161010	ENST00000284637.9:c.1228C>T	4.37:g.170043369G>A	ENSP00000284637:p.Leu410Phe					SH3RF1_ENST00000508685.1_5'UTR	p.L410F	NM_020870.3	NP_065921.2	Q7Z6J0	SH3R1_HUMAN		GBM - Glioblastoma multiforme(119;0.0287)	7	1569	-		Prostate(90;0.00267)|Renal(120;0.0183)	410					Q05BT2|Q8IW46|Q9HAM2|Q9P234	Missense_Mutation	SNP	ENST00000284637.9	37	c.1228C>T	CCDS34099.1	.	.	.	.	.	.	.	.	.	.	G	8.785	0.929225	0.18131	.	.	ENSG00000154447	ENST00000284637	T	0.13089	2.62	4.15	0.729	0.18266	.	1.042410	0.07633	N	0.929044	T	0.07593	0.0191	N	0.08118	0	0.09310	N	1	B	0.14438	0.01	B	0.15484	0.013	T	0.38650	-0.9651	10	0.52906	T	0.07	-0.6638	7.4718	0.27353	0.0:0.4956:0.1979:0.3065	.	410	Q7Z6J0	SH3R1_HUMAN	F	410	ENSP00000284637:L410F	ENSP00000284637:L410F	L	-	1	0	SH3RF1	170279944	0.160000	0.22878	0.163000	0.22734	0.956000	0.61745	0.182000	0.16900	0.190000	0.20209	0.585000	0.79938	CTT		0.542	SH3RF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363382.3	NM_020870		6	8	0	0	0	1	0	6	8					A	170043369	G	A	170043369	3	1	406	1	0	0	0	0	1	0	0	0	14258	1000	35	3	1462	3	SH3RF1	4	170043369	Missense_Mutation	SNP	G	TCGA-VN-A88Q-01A-11D-A34U-08	123067084	170043369	21110907	19	19752											
MSH3	4437	broad.mit.edu	37	chr5	80088578	80088578	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgtacaagaagaaagaaaaaTtgtaataaaaaatggaaggc	23	7	9	2	0	0	3	0	0	0	3	0	4	0	4	0	2	1	2	0	2	11	4			TCGA-VN-A88Q-01A-11D-A34U-08	TCGA-VN-A88Q-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01ba16d8-9bb6-47e4-a32c-887197f7b36d	3d8fd88e-7661-4504-aa5b-a45bb03b8ee1	g.chr5:80088578T>G	ENST00000265081.6	+	19	2650	c.2570T>G	c.(2569-2571)aTt>aGt	p.I857S		NM_002439.4	NP_002430.3	P20585	MSH3_HUMAN	mutS homolog 3	857					ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)|maintenance of DNA repeat elements (GO:0043570)|meiotic mismatch repair (GO:0000710)|mismatch repair (GO:0006298)|negative regulation of DNA recombination (GO:0045910)|positive regulation of helicase activity (GO:0051096)|reciprocal meiotic recombination (GO:0007131)|somatic recombination of immunoglobulin gene segments (GO:0016447)	membrane (GO:0016020)|MutSbeta complex (GO:0032302)|nuclear chromosome (GO:0000228)|nucleus (GO:0005634)	ATP binding (GO:0005524)|centromeric DNA binding (GO:0019237)|damaged DNA binding (GO:0003684)|DNA-dependent ATPase activity (GO:0008094)|double-strand/single-strand DNA junction binding (GO:0000406)|enzyme binding (GO:0019899)|heteroduplex DNA loop binding (GO:0000404)|Y-form DNA binding (GO:0000403)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	29		Lung NSC(167;0.00479)|all_lung(232;0.00507)|Ovarian(174;0.0261)|Breast(144;0.244)		OV - Ovarian serous cystadenocarcinoma(54;2.38e-45)|Epithelial(54;1.58e-38)|all cancers(79;4.93e-33)		GAAAGAAAAATTGTAATAAAA	0.328								Mismatch excision repair (MMR)																													Melanoma(88;1010 1399 13793 26548 36275)	ENST00000265081.6																			0				NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	29						c.(2569-2571)aTt>aGt	Mismatch excision repair (MMR)	mutS homolog 3							72	77	76					5																	80088578		2202	4299	6501	SO:0001583	missense	4437				maintenance of DNA repeat elements|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|somatic recombination of immunoglobulin gene segments	MutSbeta complex|nuclear chromosome	ATP binding|DNA-dependent ATPase activity|double-strand/single-strand DNA junction binding|enzyme binding|loop DNA binding|Y-form DNA binding	g.chr5:80088578T>G	U61981	CCDS34195.1	5q11-q12	2013-09-12	2013-09-12		ENSG00000113318	ENSG00000113318			7326	protein-coding gene	gene with protein product	"Divergent upstream protein", "Mismatch repair protein 1"	600887	"mutS (E. coli) homolog 3", "mutS homolog 3 (E. coli)"				Standard	NM_002439		Approved	DUP, MRP1	uc003kgz.4	P20585	OTTHUMG00000162540	ENST00000265081.6:c.2570T>G	5.37:g.80088578T>G	ENSP00000265081:p.Ile857Ser						p.I857S	NM_002439.4	NP_002430.3	P20585	MSH3_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;2.38e-45)|Epithelial(54;1.58e-38)|all cancers(79;4.93e-33)	19	2650	+		Lung NSC(167;0.00479)|all_lung(232;0.00507)|Ovarian(174;0.0261)|Breast(144;0.244)	857					A1L480|A1L482|A6NMM6|Q6PJT5|Q86UQ6|Q92867	Missense_Mutation	SNP	ENST00000265081.6	37	c.2570T>G	CCDS34195.1	.	.	.	.	.	.	.	.	.	.	T	15.22	2.768278	0.49680	.	.	ENSG00000113318	ENST00000265081;ENST00000535995	D	0.87887	-2.31	5.41	5.41	0.78517	DNA mismatch repair protein MutS, core (1);DNA mismatch repair protein MutS, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.94401	0.8199	M	0.90650	3.135	0.50813	D	0.999893	D	0.89917	1.0	D	0.91635	0.999	D	0.95256	0.8364	9	.	.	.	-17.7249	14.448	0.67364	0.0:0.0:0.0:1.0	.	857	P20585	MSH3_HUMAN	S	857;848	ENSP00000265081:I857S	.	I	+	2	0	MSH3	80124334	1.000000	0.71417	0.898000	0.35279	0.102000	0.19082	6.981000	0.76166	2.039000	0.60335	0.528000	0.53228	ATT		0.328	MSH3-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369471.1	NM_002439		3	69	0	0	0	1	0	3	69					G	80088578	T	G	80088578	3	3	406	1	0	0	0	0	1	0	0	0	9871	1493	52	5	2644	5	MSH3	5	80088578	Missense_Mutation	SNP	T	TCGA-VN-A88Q-01A-11D-A34U-08		80088578	100826682	20	19753											
ARRDC3	57561	broad.mit.edu	37	chr5	90670917	90670917	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctttggcatagaaggcctgtGtttggtaaatggctgccttt	7	15	12	7	0	0	1	0	0	0	1	0	1	0	1	2	4	1	4	2	4	4	5			TCGA-VN-A88Q-01A-11D-A34U-08	TCGA-VN-A88Q-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01ba16d8-9bb6-47e4-a32c-887197f7b36d	3d8fd88e-7661-4504-aa5b-a45bb03b8ee1	g.chr5:90670917G>A	ENST00000265138.3	-	5	958	c.692C>T	c.(691-693)aCa>aTa	p.T231I	ARRDC3_ENST00000503192.1_5'Flank	NM_020801.2	NP_065852.1	Q96B67	ARRD3_HUMAN	arrestin domain containing 3	231					fat pad development (GO:0060613)|negative regulation of heat generation (GO:0031651)|negative regulation of locomotion involved in locomotory behavior (GO:0090327)|negative regulation of multicellular organismal metabolic process (GO:0044252)|positive regulation of adrenergic receptor signaling pathway (GO:0071879)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|skin development (GO:0043588)|temperature homeostasis (GO:0001659)	endosome (GO:0005768)|plasma membrane (GO:0005886)	beta-3 adrenergic receptor binding (GO:0031699)			breast(2)|endometrium(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	18		all_cancers(142;2.22e-05)|all_epithelial(76;1.58e-07)|all_lung(232;0.000521)|Lung NSC(167;0.000548)|Ovarian(174;0.0798)|Colorectal(57;0.207)		OV - Ovarian serous cystadenocarcinoma(54;4.56e-30)|Epithelial(54;7.55e-26)|all cancers(79;3.63e-22)		GAAGGCCTGTGTTTGGTAAAT	0.433																																						ENST00000265138.3																			0				breast(2)|endometrium(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	18						c.(691-693)aCa>aTa		arrestin domain containing 3							94	79	84					5																	90670917		2203	4300	6503	SO:0001583	missense	57561				signal transduction	cytoplasm	protein binding	g.chr5:90670917G>A	AB037797	CCDS34202.1	5q14.3	2013-10-11			ENSG00000113369	ENSG00000113369			29263	protein-coding gene	gene with protein product	"alpha-arrestin 3"	612464				10718198, 19605364	Standard	NM_020801		Approved	KIAA1376	uc003kjz.2	Q96B67	OTTHUMG00000162616	ENST00000265138.3:c.692C>T	5.37:g.90670917G>A	ENSP00000265138:p.Thr231Ile						p.T231I	NM_020801.2	NP_065852.1	Q96B67	ARRD3_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;4.56e-30)|Epithelial(54;7.55e-26)|all cancers(79;3.63e-22)	5	958	-		all_cancers(142;2.22e-05)|all_epithelial(76;1.58e-07)|all_lung(232;0.000521)|Lung NSC(167;0.000548)|Ovarian(174;0.0798)|Colorectal(57;0.207)	231					A8K6T8|Q9P2H1	Missense_Mutation	SNP	ENST00000265138.3	37	c.692C>T	CCDS34202.1	.	.	.	.	.	.	.	.	.	.	G	29.7	5.025300	0.93518	.	.	ENSG00000113369	ENST00000265138	T	0.17213	2.29	5.98	5.98	0.97165	Immunoglobulin E-set (1);Arrestin-like, C-terminal (1);	0.086995	0.85682	D	0.000000	T	0.20007	0.0481	L	0.37850	1.14	0.80722	D	1	P	0.36909	0.573	B	0.40602	0.334	T	0.01657	-1.1302	10	0.21540	T	0.41	-31.5824	20.452	0.99131	0.0:0.0:1.0:0.0	.	231	Q96B67	ARRD3_HUMAN	I	231	ENSP00000265138:T231I	ENSP00000265138:T231I	T	-	2	0	ARRDC3	90706673	1.000000	0.71417	1.000000	0.80357	0.765000	0.43378	9.827000	0.99397	2.838000	0.97847	0.591000	0.81541	ACA		0.433	ARRDC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369763.2	NM_020801		39	58	0	0	0	1	0	39	58					A	90670917	G	A	90670917	3	1	406	1	0	0	0	0	1	0	0	0	984	1377	48	3	568	3	ARRDC3	5	90670917	Missense_Mutation	SNP	G	TCGA-VN-A88Q-01A-11D-A34U-08	10582339	90670917	90244343	21	19754											
COL28A1	340267	broad.mit.edu	37	chr7	7410437	7410437	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaaatccaggttgaggtgaCgatgaaccaaaaatttgaac	16	8	9	8	1	0	4	0	4	0	0	1	5	1	4	3	2	2	1	3	2	5	2	rs539561132		TCGA-VN-A88Q-01A-11D-A34U-08	TCGA-VN-A88Q-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01ba16d8-9bb6-47e4-a32c-887197f7b36d	3d8fd88e-7661-4504-aa5b-a45bb03b8ee1	g.chr7:7410437C>T	ENST00000399429.3	-	33	3125	c.2985G>A	c.(2983-2985)tcG>tcA	p.S995S		NM_001037763.2	NP_001032852.2	Q2UY09	COSA1_HUMAN	collagen, type XXVIII, alpha 1	995					cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	42		Ovarian(82;0.0789)		UCEC - Uterine corpus endometrioid carcinoma (126;0.228)		GTTGAGGTGACGATGAACCAA	0.363													T|||	1	0.000199681	0	0	5008	,	,		16331	0.001		0	False		,,,				2504	0					ENST00000399429.3																			0				cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	42						c.(2983-2985)tcG>tcA		collagen, type XXVIII, alpha 1							114	102	106					7																	7410437		1831	4087	5918	SO:0001819	synonymous_variant	340267				cell adhesion	basement membrane|collagen	serine-type endopeptidase inhibitor activity	g.chr7:7410437C>T	AJ890451	CCDS43553.1	7p21.3	2013-01-16			ENSG00000215018	ENSG00000215018		"Collagens"	22442	protein-coding gene	gene with protein product		609996				16330543	Standard	NM_001037763		Approved		uc003src.1	Q2UY09	OTTHUMG00000150034	ENST00000399429.3:c.2985G>A	7.37:g.7410437C>T							p.S995S	NM_001037763.2	NP_001032852.2	Q2UY09	COSA1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.228)	33	3125	-		Ovarian(82;0.0789)	995					A4D101|A4D106|A4D107|A8MVR2|B9EGX9|Q2UY07|Q2UY08	Silent	SNP	ENST00000399429.3	37	c.2985G>A	CCDS43553.1																																																																																				0.363	COL28A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315899.1	NM_001037763		4	88	0	0	0	1	0	4	88					T	7410437	C	T	7410437	2	4	406	1	0	0	0	0	0	0	0	1	3686	523	19	1		1	COL28A1	7	7410437	Silent	SNP	C	TCGA-VN-A88Q-01A-11D-A34U-08		7410437	151728226	22	19755											
ZMIZ2	83637	broad.mit.edu	37	chr7	44807185	44807185	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	acccgacctccctacgaacaAcaatgacgacctgctttctc	11	8	5	17	3	1	1	0	1	1	0	3	4	2	1	4	0	4	1	4	0	4	2			TCGA-VN-A88Q-01A-11D-A34U-08	TCGA-VN-A88Q-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01ba16d8-9bb6-47e4-a32c-887197f7b36d	3d8fd88e-7661-4504-aa5b-a45bb03b8ee1	g.chr7:44807185A>G	ENST00000309315.4	+	19	2849	c.2726A>G	c.(2725-2727)aAc>aGc	p.N909S	ZMIZ2_ENST00000265346.7_Missense_Mutation_p.N883S|ZMIZ2_ENST00000413916.1_Missense_Mutation_p.N851S|ZMIZ2_ENST00000463931.1_3'UTR|ZMIZ2_ENST00000433667.1_Missense_Mutation_p.N877S|ZMIZ2_ENST00000441627.1_Missense_Mutation_p.N909S	NM_031449.3	NP_113637.3	Q8NF64	ZMIZ2_HUMAN	zinc finger, MIZ-type containing 2	909					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	mitochondrion (GO:0005739)|nuclear replication fork (GO:0043596)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|zinc ion binding (GO:0008270)			breast(3)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						CCTACGAACAACAATGACGAC	0.557																																					NSCLC(20;604 852 1948 16908 50522)	ENST00000309315.4																			0				breast(3)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						c.(2725-2727)aAc>aGc		zinc finger, MIZ-type containing 2							139	154	149					7																	44807185		2045	4183	6228	SO:0001583	missense	83637				positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear replication fork	ligand-dependent nuclear receptor transcription coactivator activity|protein binding|zinc ion binding	g.chr7:44807185A>G	AK090415	CCDS43576.1, CCDS43577.1, CCDS75591.1	7p13	2009-11-06			ENSG00000122515	ENSG00000122515		"Zinc fingers, MIZ-type"	22229	protein-coding gene	gene with protein product		611196					Standard	XM_005249866		Approved	KIAA1886, hZIMP7, ZIMP7, DKFZp761I2123, NET27	uc003tlr.3	Q8NF64	OTTHUMG00000155817	ENST00000309315.4:c.2726A>G	7.37:g.44807185A>G	ENSP00000311778:p.Asn909Ser					ZMIZ2_ENST00000463931.1_3'UTR|ZMIZ2_ENST00000441627.1_Missense_Mutation_p.N909S|ZMIZ2_ENST00000433667.1_Missense_Mutation_p.N877S|ZMIZ2_ENST00000413916.1_Missense_Mutation_p.N851S|ZMIZ2_ENST00000265346.7_Missense_Mutation_p.N883S	p.N909S	NM_031449.3	NP_113637.3	Q8NF64	ZMIZ2_HUMAN			19	2849	+			909					A4D2K7|D3DVL1|O94790|Q0VGB4|Q659A8|Q6JKL5|Q8WTX8|Q96Q01|Q9BQH7	Missense_Mutation	SNP	ENST00000309315.4	37	c.2726A>G	CCDS43576.1	.	.	.	.	.	.	.	.	.	.	A	0.706	-0.788944	0.02884	.	.	ENSG00000122515	ENST00000413916;ENST00000309315;ENST00000441627;ENST00000433667;ENST00000265346;ENST00000414051	T;T;T;T;T	0.25579	1.8;1.82;1.82;1.83;1.79	5.12	1.19	0.21007	.	0.230679	0.37623	N	0.002003	T	0.06645	0.0170	N	0.01168	-0.975	0.24906	N	0.992073	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.04013	0.0;0.001;0.0;0.001	T	0.41610	-0.9499	10	0.02654	T	1	-8.5318	9.7329	0.40372	0.2867:0.0:0.7133:0.0	.	532;883;909;851	B3KR25;Q8NF64-2;Q8NF64;Q8NF64-3	.;.;ZMIZ2_HUMAN;.	S	851;909;909;877;883;912	ENSP00000409648:N851S;ENSP00000311778:N909S;ENSP00000414723:N909S;ENSP00000396601:N877S;ENSP00000265346:N883S	ENSP00000265346:N883S	N	+	2	0	ZMIZ2	44773710	1.000000	0.71417	0.759000	0.31340	0.484000	0.33280	1.226000	0.32563	0.066000	0.16515	-0.337000	0.08149	AAC		0.557	ZMIZ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341790.1	NM_031449		16	36	0	0	0	1	0	16	36					G	44807185	A	G	44807185	3	3	406	1	0	0	0	0	1	0	0	0	17694	43	2	4	2796	4	ZMIZ2	7	44807185	Missense_Mutation	SNP	A	TCGA-VN-A88Q-01A-11D-A34U-08	37396748	44807185	114331478	23	19756											
MLL5	55904	broad.mit.edu	37	chr7	104747653	104747653	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttctccagaaataaagagacGcacttatagtcaagaggtaa	17	9	8	7	1	2	3	1	0	1	3	3	4	2	3	1	1	0	2	1	1	7	5	rs370198555		TCGA-VN-A88Q-01A-11D-A34U-08	TCGA-VN-A88Q-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01ba16d8-9bb6-47e4-a32c-887197f7b36d	3d8fd88e-7661-4504-aa5b-a45bb03b8ee1	g.chr7:104747653G>A	ENST00000311117.3	+	21	3433	c.2888G>A	c.(2887-2889)cGc>cAc	p.R963H	KMT2E_ENST00000257745.4_Missense_Mutation_p.R963H|KMT2E_ENST00000334914.7_Missense_Mutation_p.R18H|CTB-152G17.6_ENST00000607968.1_RNA|KMT2E_ENST00000334877.4_Missense_Mutation_p.R963H	NM_182931.2	NP_891847.1	Q8IZD2	KMT2E_HUMAN	lysine (K)-specific methyltransferase 2E	963					cell cycle arrest (GO:0007050)|cellular response to retinoic acid (GO:0071300)|DNA methylation (GO:0006306)|erythrocyte differentiation (GO:0030218)|histone H3-K4 methylation (GO:0051568)|neutrophil activation (GO:0042119)|neutrophil mediated immunity (GO:0002446)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of transcription, DNA-templated (GO:0045893)|retinoic acid receptor signaling pathway (GO:0048384)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|MLL5-L complex (GO:0070688)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)										ATAAAGAGACGCACTTATAGT	0.264																																						ENST00000334877.4																			0											c.(2887-2889)cGc>cAc		lysine (K)-specific methyltransferase 2E		G	HIS/ARG,HIS/ARG	0,4318		0,0,2159	54	62	59		2888,2888	5.8	1	7		59	1,8509		0,1,4254	no	missense,missense	MLL5	NM_018682.3,NM_182931.2	29,29	0,1,6413	AA,AG,GG		0.0118,0.0,0.0078	possibly-damaging,possibly-damaging	963/1859,963/1859	104747653	1,12827	2159	4255	6414	SO:0001583	missense	55904							g.chr7:104747653G>A	AF067804	CCDS34723.1	7q22.1	2013-05-09	2013-05-09	2013-05-09	ENSG00000005483	ENSG00000005483		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	18541	protein-coding gene	gene with protein product		608444	"myeloid/lymphoid or mixed-lineage leukemia 5 (trithorax homolog, Drosophila)"	MLL5		9218106, 7672722	Standard	XM_005250493		Approved	HDCMC04P		Q8IZD2	OTTHUMG00000157403	ENST00000311117.3:c.2888G>A	7.37:g.104747653G>A	ENSP00000312379:p.Arg963His					KMT2E_ENST00000311117.3_Missense_Mutation_p.R963H|KMT2E_ENST00000257745.4_Missense_Mutation_p.R963H|KMT2E_ENST00000334914.7_Missense_Mutation_p.R18H	p.R963H							21	3422	+								B6ZDE4|B6ZDM3|M4K8J3|Q6P5Y2|Q6PKG4|Q6T316|Q86TI3|Q86W12|Q86WG0|Q86WL2|Q8IV78|Q8IWR5|Q8NFF8|Q9NWE7	Missense_Mutation	SNP	ENST00000311117.3	37	c.2888G>A	CCDS34723.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.385722	0.82792	0.0	1.18E-4	ENSG00000005483	ENST00000311117;ENST00000393656;ENST00000334877;ENST00000351043;ENST00000257745;ENST00000334914	D;D;D;T	0.92149	-2.98;-2.61;-2.98;0.73	5.82	5.82	0.92795	.	0.171071	0.39759	N	0.001267	D	0.90219	0.6942	L	0.29908	0.895	0.37652	D	0.922446	D	0.54047	0.964	P	0.46885	0.53	D	0.91017	0.4854	10	0.44086	T	0.13	.	20.1008	0.97874	0.0:0.0:1.0:0.0	.	963	Q8IZD2	MLL5_HUMAN	H	963;963;963;883;963;18	ENSP00000312379:R963H;ENSP00000335599:R963H;ENSP00000257745:R963H;ENSP00000333986:R18H	ENSP00000257745:R963H	R	+	2	0	MLL5	104534889	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.868000	0.56055	2.748000	0.94277	0.591000	0.81541	CGC		0.264	KMT2E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348697.1			11	60	0	0	0	1	0	11	60					A	104747653	G	A	104747653	3	1	406	1	0	0	0	0	1	0	0	0	9624	1087	38	1	2962	1	MLL5	7	104747653	Missense_Mutation	SNP	G	TCGA-VN-A88Q-01A-11D-A34U-08	59940468	104747653	54391010	24	19757											
SLC7A2	6542	broad.mit.edu	37	chr8	17396401	17396401	+	Intron	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	agggtttattggaacacctgCcccaccggtttgcgacagca	9	9	11	12	2	0	0	0	0	0	0	0	2	0	1	4	3	4	3	4	3	2	4			TCGA-VN-A88Q-01A-11D-A34U-08	TCGA-VN-A88Q-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01ba16d8-9bb6-47e4-a32c-887197f7b36d	3d8fd88e-7661-4504-aa5b-a45bb03b8ee1	g.chr8:17396401C>T	ENST00000494857.1	+	3	196				SLC7A2_ENST00000522656.1_Intron|SLC7A2_ENST00000398090.3_Missense_Mutation_p.A23V|SLC7A2_ENST00000470360.1_Missense_Mutation_p.A23V|SLC7A2_ENST00000004531.10_Missense_Mutation_p.A23V	NM_001008539.3	NP_001008539.3	P52569	CTR2_HUMAN	solute carrier family 7 (cationic amino acid transporter, y+ system), member 2						amino acid transport (GO:0006865)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|macrophage activation (GO:0042116)|nitric oxide biosynthetic process (GO:0006809)|nitric oxide production involved in inflammatory response (GO:0002537)|regulation of inflammatory response (GO:0050727)|regulation of macrophage activation (GO:0043030)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	basic amino acid transmembrane transporter activity (GO:0015174)|high-affinity arginine transmembrane transporter activity (GO:0005289)|L-lysine transmembrane transporter activity (GO:0015189)|L-ornithine transmembrane transporter activity (GO:0000064)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|stomach(1)	25				Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216)	L-Lysine(DB00123)|L-Ornithine(DB00129)	GGAACACCTGCCCCACCGGTT	0.408																																						ENST00000470360.1																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|stomach(1)	25						c.(67-69)gCc>gTc		solute carrier family 7 (cationic amino acid transporter, y+ system), member 2	L-Lysine(DB00123)|L-Ornithine(DB00129)						106	97	100					8																	17396401		1848	4093	5941	SO:0001627	intron_variant	6542				cellular amino acid metabolic process|ion transport	cytoplasm|integral to plasma membrane|membrane fraction	basic amino acid transmembrane transporter activity	g.chr8:17396401C>T	D29990	CCDS6002.2, CCDS34852.1, CCDS55203.1	8p22	2013-05-22			ENSG00000003989	ENSG00000003989		"Solute carriers"	11060	protein-coding gene	gene with protein product		601872		ATRC2		8954799	Standard	NM_001164771		Approved	CAT-2, HCAT2	uc011kye.2	P52569	OTTHUMG00000130819	ENST00000494857.1:c.-22-4426C>T	8.37:g.17396401C>T						SLC7A2_ENST00000398090.3_Missense_Mutation_p.A23V|SLC7A2_ENST00000494857.1_Intron|SLC7A2_ENST00000522656.1_Intron|SLC7A2_ENST00000004531.10_Missense_Mutation_p.A23V	p.A23V			P52569	CTR2_HUMAN		Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216)	3	185	+			0					B7ZL54|O15291|O15292|Q14CQ6|Q6NSZ7|Q86TC6	Missense_Mutation	SNP	ENST00000494857.1	37	c.68C>T	CCDS34852.1	.	.	.	.	.	.	.	.	.	.	C	14.45	2.537812	0.45176	.	.	ENSG00000003989	ENST00000470360;ENST00000004531;ENST00000398090	D;D;D	0.88586	-2.4;-2.26;-2.4	3.16	0.234	0.15390	.	.	.	.	.	T	0.76615	0.4012	.	.	.	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.59263	-0.7487	8	0.23891	T	0.37	.	3.3216	0.07052	0.0:0.5181:0.2225:0.2594	.	23;23	P52569-3;P52569-2	.;.	V	23	ENSP00000419873:A23V;ENSP00000004531:A23V;ENSP00000381164:A23V	ENSP00000004531:A23V	A	+	2	0	SLC7A2	17440780	0.000000	0.05858	0.000000	0.03702	0.022000	0.10575	-0.511000	0.06321	0.024000	0.15214	0.563000	0.77884	GCC		0.408	SLC7A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253367.3	NM_003046		35	101	0	0	0	1	0	35	101					T	17396401	C	T	17396401	1	4	406	0	1	0	0	0	0	0	0	0	14697	739	26	3		3	SLC7A2	8	17396401	Intron	SNP	C	TCGA-VN-A88Q-01A-11D-A34U-08		17396401	128967621	25	19758											
CYP11B2	1585	broad.mit.edu	37	chr8	143995766	143995766	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttcaacaggagctccgccaCgatgcctgtgtagtgttgag	8	10	12	11	2	1	1	1	1	0	0	2	3	2	2	3	1	3	3	3	1	2	3			TCGA-VN-A88Q-01A-11D-A34U-08	TCGA-VN-A88Q-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01ba16d8-9bb6-47e4-a32c-887197f7b36d	3d8fd88e-7661-4504-aa5b-a45bb03b8ee1	g.chr8:143995766C>T	ENST00000323110.2	-	5	870	c.868G>A	c.(868-870)Gtg>Atg	p.V290M		NM_000498.3	NP_000489.3	P19099	C11B2_HUMAN	cytochrome P450, family 11, subfamily B, polypeptide 2	290					aldosterone biosynthetic process (GO:0032342)|C21-steroid hormone biosynthetic process (GO:0006700)|cellular response to hormone stimulus (GO:0032870)|cellular response to potassium ion (GO:0035865)|cortisol biosynthetic process (GO:0034651)|mineralocorticoid biosynthetic process (GO:0006705)|potassium ion homeostasis (GO:0055075)|regulation of blood volume by renal aldosterone (GO:0002017)|renal water homeostasis (GO:0003091)|small molecule metabolic process (GO:0044281)|sodium ion homeostasis (GO:0055078)|steroid metabolic process (GO:0008202)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	corticosterone 18-monooxygenase activity (GO:0047783)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|steroid 11-beta-monooxygenase activity (GO:0004507)			cervix(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(22)|ovary(3)|upper_aerodigestive_tract(3)	39	all_cancers(97;5.56e-11)|all_epithelial(106;2.49e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Eplerenone(DB00700)|Etomidate(DB00292)|Hydrocortisone(DB00741)|Metoclopramide(DB01233)|Metyrapone(DB01011)|Spironolactone(DB00421)	AGCTCCGCCACGATGCCTGTG	0.567									Familial Hyperaldosteronism type I																													ENST00000323110.2																			0				cervix(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(22)|ovary(3)|upper_aerodigestive_tract(3)	39						c.(868-870)Gtg>Atg		cytochrome P450, family 11, subfamily B, polypeptide 2	Candesartan(DB00796)|Metyrapone(DB01011)						152	125	134					8																	143995766		2203	4300	6503	SO:0001583	missense	1585	Familial Hyperaldosteronism type I	Familial Cancer Database	Dexamethasone Sensitive Aldosteronism, FH-I	aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|potassium ion homeostasis|regulation of blood volume by renal aldosterone|sodium ion homeostasis|xenobiotic metabolic process		corticosterone 18-monooxygenase activity|electron carrier activity|steroid 11-beta-monooxygenase activity	g.chr8:143995766C>T	X54741	CCDS6393.1	8q21-q22	2013-06-19	2003-01-14		ENSG00000179142	ENSG00000179142	1.14.15.4	"Cytochrome P450s"	2592	protein-coding gene	gene with protein product	"steroid 11-beta-monooxygenase"	124080	"cytochrome P450, subfamily XIB (steroid 11-beta-hydroxylase), polypeptide 2"	CYP11B		1303253	Standard	NM_000498		Approved	CYP11BL, CPN2, P-450C18, P450aldo, ALDOS	uc003yxk.1	P19099	OTTHUMG00000160254	ENST00000323110.2:c.868G>A	8.37:g.143995766C>T	ENSP00000325822:p.Val290Met						p.V290M	NM_000498.3	NP_000489.3	P19099	C11B2_HUMAN			5	870	-	all_cancers(97;5.56e-11)|all_epithelial(106;2.49e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)		290					B0ZBE4|Q16726	Missense_Mutation	SNP	ENST00000323110.2	37	c.868G>A	CCDS6393.1	.	.	.	.	.	.	.	.	.	.	.	6.420	0.445596	0.12164	.	.	ENSG00000179142	ENST00000323110	T	0.69306	-0.39	3.96	0.812	0.18744	.	0.456761	0.17821	N	0.160850	T	0.45994	0.1370	L	0.37466	1.105	0.26184	N	0.97969	B	0.32829	0.386	B	0.25884	0.064	T	0.36939	-0.9727	10	0.52906	T	0.07	.	2.8706	0.05616	0.0:0.405:0.2353:0.3597	.	290	P19099	C11B2_HUMAN	M	290	ENSP00000325822:V290M	ENSP00000325822:V290M	V	-	1	0	CYP11B2	143992768	0.035000	0.19736	0.153000	0.22517	0.001000	0.01503	-0.215000	0.09279	0.335000	0.23614	-0.502000	0.04539	GTG		0.567	CYP11B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359904.1			11	24	0	0	0	1	0	11	24					T	143995766	C	T	143995766	3	4	406	1	0	0	0	0	1	0	0	0	4146	536	19	1	663	1	CYP11B2	8	143995766	Missense_Mutation	SNP	C	TCGA-VN-A88Q-01A-11D-A34U-08	126599365	143995766	2368256	26	19759											
TAF1L	138474	broad.mit.edu	37	chr9	32631824	32631824	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcctggttccgcttaagccGcctcagttgctcttgaatcc	5	14	8	14	2	2	1	1	1	1	0	5	1	5	1	5	1	2	4	5	1	2	5			TCGA-VN-A88Q-01A-11D-A34U-08	TCGA-VN-A88Q-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01ba16d8-9bb6-47e4-a32c-887197f7b36d	3d8fd88e-7661-4504-aa5b-a45bb03b8ee1	g.chr9:32631824G>A	ENST00000242310.4	-	1	3843	c.3754C>T	c.(3754-3756)Cgg>Tgg	p.R1252W	RP11-555J4.4_ENST00000430787.1_RNA	NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	1252					DNA-templated transcription, initiation (GO:0006352)|histone acetylation (GO:0016573)|male meiosis (GO:0007140)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	transcription factor TFIID complex (GO:0005669)	DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine-acetylated histone binding (GO:0070577)|protein serine/threonine kinase activity (GO:0004674)|TBP-class protein binding (GO:0017025)	p.R1252W(1)		breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		CGCTTAAGCCGCCTCAGTTGC	0.448																																						ENST00000242310.4																			1	Substitution - Missense(1)	p.R1252W(1)	breast(1)	breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159						c.(3754-3756)Cgg>Tgg		TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like							92	90	91					9																	32631824		2203	4300	6503	SO:0001583	missense	138474				male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding	g.chr9:32631824G>A	AF390562	CCDS35003.1	9p12	2007-07-27	2007-07-27		ENSG00000122728	ENSG00000122728			18056	protein-coding gene	gene with protein product		607798	"TAF1-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa"			12217962	Standard	NM_153809		Approved		uc003zrg.1	Q8IZX4	OTTHUMG00000019747	ENST00000242310.4:c.3754C>T	9.37:g.32631824G>A	ENSP00000418379:p.Arg1252Trp						p.R1252W	NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)	1	3843	-			1252					Q0VG57	Missense_Mutation	SNP	ENST00000242310.4	37	c.3754C>T	CCDS35003.1	.	.	.	.	.	.	.	.	.	.	G	15.36	2.809308	0.50421	.	.	ENSG00000122728	ENST00000242310	T	0.66099	-0.19	1.04	1.04	0.20106	.	0.000000	0.85682	D	0.000000	T	0.67859	0.2938	L	0.54323	1.7	0.58432	D	0.99999	D	0.89917	1.0	D	0.97110	1.0	T	0.65837	-0.6071	10	0.87932	D	0	.	4.2195	0.10551	0.0:0.0:0.605:0.395	.	1252	Q8IZX4	TAF1L_HUMAN	W	1252	ENSP00000418379:R1252W	ENSP00000418379:R1252W	R	-	1	2	TAF1L	32621824	0.996000	0.38824	0.995000	0.50966	0.426000	0.31534	0.577000	0.23758	0.507000	0.28148	0.195000	0.17529	CGG		0.448	TAF1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052012.2			40	81	0	0	0	1	0	40	81					A	32631824	G	A	32631824	3	1	406	1	0	0	0	0	1	0	0	0	15520	1086	38	1	1730	1	TAF1L	9	32631824	Missense_Mutation	SNP	G	TCGA-VN-A88Q-01A-11D-A34U-08		32631824	108581607	27	19760											
DAPK1	1612	broad.mit.edu	37	chr9	90262289	90262289	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttgaaatttctcagtgagAacaaatgccctttggatgtg	11	13	9	8	0	1	2	1	2	1	1	2	4	1	3	2	1	2	0	2	1	3	3			TCGA-VN-A88Q-01A-11D-A34U-08	TCGA-VN-A88Q-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01ba16d8-9bb6-47e4-a32c-887197f7b36d	3d8fd88e-7661-4504-aa5b-a45bb03b8ee1	g.chr9:90262289A>G	ENST00000408954.3	+	14	1635	c.1300A>G	c.(1300-1302)Aac>Gac	p.N434D	DAPK1_ENST00000491893.1_Missense_Mutation_p.N434D|DAPK1_ENST00000472284.1_Missense_Mutation_p.N434D|DAPK1_ENST00000469640.2_Missense_Mutation_p.N434D|DAPK1_ENST00000358077.5_Missense_Mutation_p.N434D	NM_004938.2	NP_004929.2	P53355	DAPK1_HUMAN	death-associated protein kinase 1	434					apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cellular response to interferon-gamma (GO:0071346)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|intracellular signal transduction (GO:0035556)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of translation (GO:0017148)|positive regulation of apoptotic process (GO:0043065)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of apoptotic process (GO:0042981)|regulation of autophagy (GO:0010506)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|calmodulin-dependent protein kinase activity (GO:0004683)|identical protein binding (GO:0042802)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(27)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(3)|stomach(1)	72						TCTCAGTGAGAACAAATGCCC	0.507									Chronic Lymphocytic Leukemia, Familial Clustering of																													ENST00000469640.2																			0				breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(27)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(3)|stomach(1)	72						c.(1300-1302)Aac>Gac		death-associated protein kinase 1							107	111	110					9																	90262289		2039	4189	6228	SO:0001583	missense	1612	Chronic Lymphocytic Leukemia, Familial Clustering of	Familial Cancer Database	Familial CLL	apoptosis|induction of apoptosis by extracellular signals|intracellular protein kinase cascade	actin cytoskeleton|cytoplasm	ATP binding|calmodulin binding|protein serine/threonine kinase activity	g.chr9:90262289A>G	X76104	CCDS43842.1	9q34.1	2013-01-10			ENSG00000196730	ENSG00000196730		"Ankyrin repeat domain containing"	2674	protein-coding gene	gene with protein product		600831				8530096	Standard	XM_005251757		Approved	DAPK	uc004apd.3	P53355	OTTHUMG00000020150	ENST00000408954.3:c.1300A>G	9.37:g.90262289A>G	ENSP00000386135:p.Asn434Asp					DAPK1_ENST00000472284.1_Missense_Mutation_p.N434D|DAPK1_ENST00000408954.3_Missense_Mutation_p.N434D|DAPK1_ENST00000358077.5_Missense_Mutation_p.N434D|DAPK1_ENST00000491893.1_Missense_Mutation_p.N434D	p.N434D			P53355	DAPK1_HUMAN			14	1675	+			434					B7ZLD2|B7ZLE7|Q14CQ7|Q1W5W0|Q68CP8|Q6ZRZ3|Q9BTL8	Missense_Mutation	SNP	ENST00000408954.3	37	c.1300A>G	CCDS43842.1	.	.	.	.	.	.	.	.	.	.	A	16.86	3.238119	0.58886	.	.	ENSG00000196730	ENST00000358077;ENST00000472284;ENST00000469640;ENST00000408954;ENST00000491893	T;T;T;T;T	0.65549	-0.16;-0.16;-0.11;-0.16;-0.11	4.74	4.74	0.60224	Ankyrin repeat-containing domain (4);	0.000000	0.53938	D	0.000048	T	0.56731	0.2005	L	0.55990	1.75	0.44871	D	0.997886	P;B;B	0.47545	0.897;0.224;0.067	B;B;B	0.42245	0.381;0.134;0.027	T	0.55431	-0.8142	10	0.16420	T	0.52	.	14.6995	0.69147	1.0:0.0:0.0:0.0	.	434;434;434	B7ZLE7;B7Z454;P53355	.;.;DAPK1_HUMAN	D	434	ENSP00000350785:N434D;ENSP00000417076:N434D;ENSP00000418885:N434D;ENSP00000386135:N434D;ENSP00000419026:N434D	ENSP00000350785:N434D	N	+	1	0	DAPK1	89452109	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	8.978000	0.93450	2.125000	0.65367	0.533000	0.62120	AAC		0.507	DAPK1-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356843.1	NM_004938		20	50	0	0	0	1	0	20	50					G	90262289	A	G	90262289	3	3	406	1	0	0	0	0	1	0	0	0	4235	246	9	4	1350	4	DAPK1	9	90262289	Missense_Mutation	SNP	A	TCGA-VN-A88Q-01A-11D-A34U-08	57630465	90262289	50951142	28	19761											
C9orf98	158067	broad.mit.edu	37	chr9	135702410	135702410	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cggttctggatttcagattcGggtggccagtcaaaggtggt	7	12	15	7	2	3	1	2	0	1	1	4	2	3	2	1	6	0	1	1	6	1	3	rs200936362	byFrequency	TCGA-VN-A88Q-01A-11D-A34U-08	TCGA-VN-A88Q-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01ba16d8-9bb6-47e4-a32c-887197f7b36d	3d8fd88e-7661-4504-aa5b-a45bb03b8ee1	g.chr9:135702410G>A	ENST00000298545.3	-	8	1109	c.588C>T	c.(586-588)ccC>ccT	p.P196P	AK8_ENST00000477396.1_5'UTR	NM_152572.2	NP_689785.1	Q96MA6	KAD8_HUMAN	adenylate kinase 8	196	Adenylate kinase 1.|LID 1. {ECO:0000250}.				nucleoside diphosphate phosphorylation (GO:0006165)|nucleoside triphosphate biosynthetic process (GO:0009142)|ventricular system development (GO:0021591)	cytoplasm (GO:0005737)	adenylate kinase activity (GO:0004017)|ATP binding (GO:0005524)|cytidylate kinase activity (GO:0004127)|nucleoside diphosphate kinase activity (GO:0004550)			NS(1)|kidney(2)|large_intestine(4)|lung(11)|pancreas(2)|prostate(1)|urinary_tract(2)	23						TTTCAGATTCGGGTGGCCAGT	0.542													G|||	2	0.000399361	8e-04	0	5008	,	,		19721	0		0.001	False		,,,				2504	0					ENST00000298545.3																			0				NS(1)|kidney(2)|large_intestine(4)|lung(11)|pancreas(2)|prostate(1)|urinary_tract(2)	23						c.(586-588)ccC>ccT		adenylate kinase 8		G		1,4405	2.1+/-5.4	0,1,2202	160	155	157		588	-10.7	0	9		157	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	AK8	NM_152572.2		0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154		196/480	135702410	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	158067					cytosol	adenylate kinase activity|ATP binding|cytidylate kinase activity	g.chr9:135702410G>A	AK093446	CCDS6954.1	9q34.13	2013-04-29	2010-12-07	2010-12-07	ENSG00000165695	ENSG00000165695	2.7.4.3	"Adenylate kinases"	26526	protein-coding gene	gene with protein product		615365	"chromosome 9 open reading frame 98"	C9orf98		21080915	Standard	NM_152572		Approved	FLJ32704	uc004cbu.1	Q96MA6	OTTHUMG00000021009	ENST00000298545.3:c.588C>T	9.37:g.135702410G>A						AK8_ENST00000477396.1_5'UTR	p.P196P	NM_152572.2	NP_689785.1	Q96MA6	KAD8_HUMAN			8	1109	-			196					A8K821|Q8N9W9	Silent	SNP	ENST00000298545.3	37	c.588C>T	CCDS6954.1																																																																																				0.542	AK8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055413.1	NM_152572		6	215	0	0	0	1	0	6	215					A	135702410	G	A	135702410	2	1	406	1	0	0	0	0	0	0	0	1	2509	1103	39	2		2	C9orf98	9	135702410	Silent	SNP	G	TCGA-VN-A88Q-01A-11D-A34U-08	45440121	135702410	5511021	29	19762											
ZNF365	22891	broad.mit.edu	37	chr10	64136573	64136573	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tttgtgcagctgactcagaaAaagcaggaagttcagagacg	14	8	12	7	1	2	3	2	1	0	2	2	5	2	4	0	1	3	4	0	1	3	2			TCGA-VN-A88Q-01A-11D-A34U-08	TCGA-VN-A88Q-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01ba16d8-9bb6-47e4-a32c-887197f7b36d	3d8fd88e-7661-4504-aa5b-a45bb03b8ee1	g.chr10:64136573A>G	ENST00000395254.3	+	2	901	c.621A>G	c.(619-621)aaA>aaG	p.K207K	ZNF365_ENST00000466727.1_Intron|ZNF365_ENST00000410046.3_Silent_p.K207K|ZNF365_ENST00000395255.3_Silent_p.K207K	NM_014951.2	NP_055766.2	Q70YC4	TALAN_HUMAN	zinc finger protein 365	0										breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27	Prostate(12;0.0297)|all_hematologic(501;0.228)					TGACTCAGAAAAAGCAGGAAG	0.507																																						ENST00000395254.3																			0				breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						c.(619-621)aaA>aaG		zinc finger protein 365							103	114	110					10																	64136573		2203	4300	6503	SO:0001819	synonymous_variant	22891							g.chr10:64136573A>G	AB020651	CCDS7264.1, CCDS7265.1, CCDS31209.1, CCDS41531.1	10q21.2	2008-10-28			ENSG00000138311	ENSG00000138311		"Zinc fingers, C2H2-type"	18194	protein-coding gene	gene with protein product	"Talanin"	607818				10048485, 12740763	Standard	NM_199450		Approved	KIAA0844, UAN	uc001jmc.2	Q70YC4	OTTHUMG00000018302	ENST00000395254.3:c.621A>G	10.37:g.64136573A>G						ZNF365_ENST00000395255.3_Silent_p.K207K|ZNF365_ENST00000410046.3_Silent_p.K207K|ZNF365_ENST00000466727.1_Intron	p.K207K	NM_014951.2	NP_055766.2	Q70YC4	TALAN_HUMAN			2	901	+	Prostate(12;0.0297)|all_hematologic(501;0.228)		0						Silent	SNP	ENST00000395254.3	37	c.621A>G	CCDS31209.1																																																																																				0.507	ZNF365-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048238.2	NM_014951		32	91	0	0	0	1	0	32	91					G	64136573	A	G	64136573	2	3	406	1	0	0	0	0	0	0	0	1	17866	11	1	4		4	ZNF365	10	64136573	Silent	SNP	A	TCGA-VN-A88Q-01A-11D-A34U-08		64136573	71398174	30	19763											
TTC18	118491	broad.mit.edu	37	chr10	75051125	75051125	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacttgtgcctgaagcatccGtgcctgaagctgtttggagg	7	12	13	9	1	0	2	0	2	0	0	1	3	1	3	3	2	5	3	3	2	3	3	rs141991496		TCGA-VN-A88Q-01A-11D-A34U-08	TCGA-VN-A88Q-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01ba16d8-9bb6-47e4-a32c-887197f7b36d	3d8fd88e-7661-4504-aa5b-a45bb03b8ee1	g.chr10:75051125G>A	ENST00000310715.3	-	20	2428	c.2308C>T	c.(2308-2310)Cgg>Tgg	p.R770W	TTC18_ENST00000493787.1_5'UTR|TTC18_ENST00000355577.3_Missense_Mutation_p.R239W|TTC18_ENST00000394865.1_Missense_Mutation_p.R770W|TTC18_ENST00000401621.2_Missense_Mutation_p.R770W|TTC18_ENST00000340329.3_Intron	NM_145170.3	NP_660153.3	Q5T0N1	TTC18_HUMAN		770						extracellular vesicular exosome (GO:0070062)				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	Prostate(51;0.0119)					TGAAGCATCCGTGCCTGAAGC	0.423																																						ENST00000310715.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						c.(2308-2310)Cgg>Tgg		tetratricopeptide repeat domain 18		G	TRP/ARG	0,4406		0,0,2203	186	168	174		2308	3.4	0.3	10	dbSNP_134	174	2,8598	2.2+/-6.3	0,2,4298	no	missense	TTC18	NM_145170.3	101	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	probably-damaging	770/1122	75051125	2,13004	2203	4300	6503	SO:0001583	missense	118491						binding	g.chr10:75051125G>A																												ENST00000310715.3:c.2308C>T	10.37:g.75051125G>A	ENSP00000310829:p.Arg770Trp					TTC18_ENST00000340329.3_Intron|TTC18_ENST00000355577.3_Missense_Mutation_p.R239W|TTC18_ENST00000493787.1_5'UTR|TTC18_ENST00000401621.2_Missense_Mutation_p.R770W|TTC18_ENST00000394865.1_Missense_Mutation_p.R770W	p.R770W	NM_145170.3	NP_660153.3	Q5T0N1	TTC18_HUMAN			20	2428	-	Prostate(51;0.0119)		770					C9JIZ9|Q5T0M4|Q5T0M9|Q5T0N0|Q69YH9|Q8IYZ8|Q8N7D5|Q8NI30|Q8NI31	Missense_Mutation	SNP	ENST00000310715.3	37	c.2308C>T	CCDS7324.3	.	.	.	.	.	.	.	.	.	.	G	16.50	3.139400	0.56936	0.0	2.33E-4	ENSG00000156042	ENST00000310715;ENST00000401621;ENST00000355577;ENST00000433268;ENST00000394865	T;T;T;T	0.34072	1.76;1.76;1.4;1.38	5.32	3.37	0.38596	.	1.364340	0.04451	N	0.372639	T	0.38665	0.1049	M	0.64997	1.995	0.09310	N	1	D	0.63046	0.992	B	0.42653	0.394	T	0.27157	-1.0082	10	0.39692	T	0.17	-7.9559	7.4894	0.27452	0.0895:0.0:0.747:0.1635	.	770	Q5T0N1	TTC18_HUMAN	W	770;770;770;177;770	ENSP00000310829:R770W;ENSP00000384479:R770W;ENSP00000409527:R177W;ENSP00000378334:R770W	ENSP00000310829:R770W	R	-	1	2	TTC18	74721131	0.092000	0.21681	0.324000	0.25361	0.179000	0.23085	1.945000	0.40273	1.388000	0.46506	-0.194000	0.12790	CGG		0.423	TTC18-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding				40	86	0	0	0	1	0	40	86					A	75051125	G	A	75051125	3	1	406	1	0	0	0	0	1	0	0	0	16682	1144	40	1	1093	1	TTC18	10	75051125	Missense_Mutation	SNP	G	TCGA-VN-A88Q-01A-11D-A34U-08	10914552	75051125	60483622	31	19764											
C10orf2	56652	broad.mit.edu	37	chr10	102753257	102753257	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccagccagacacctccaagcGttcaaagtgaaggccgtgca	12	5	10	14	2	1	2	1	1	0	1	2	2	2	2	5	1	3	2	5	1	3	1	rs182559752		TCGA-VN-A88Q-01A-11D-A34U-08	TCGA-VN-A88Q-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01ba16d8-9bb6-47e4-a32c-887197f7b36d	3d8fd88e-7661-4504-aa5b-a45bb03b8ee1	g.chr10:102753257G>A	ENST00000311916.2	+	5	2230	c.2045G>A	c.(2044-2046)cGt>cAt	p.R682H	C10orf2_ENST00000473656.1_3'UTR|C10orf2_ENST00000370228.1_3'UTR	NM_001163813.1|NM_021830.4	NP_001157285.1|NP_068602.2	Q96RR1	PEO1_HUMAN	chromosome 10 open reading frame 2	682					cell death (GO:0008219)|DNA unwinding involved in DNA replication (GO:0006268)|mitochondrial DNA replication (GO:0006264)|protein hexamerization (GO:0034214)|protein homooligomerization (GO:0051260)|transcription from mitochondrial promoter (GO:0006390)	mitochondrial nucleoid (GO:0042645)	5'-3' DNA helicase activity (GO:0043139)|ATP binding (GO:0005524)|protease binding (GO:0002020)|single-stranded DNA binding (GO:0003697)			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|stomach(1)	24		Colorectal(252;0.122)|all_hematologic(284;0.152)		Epithelial(162;7.18e-11)|all cancers(201;8.75e-09)|BRCA - Breast invasive adenocarcinoma(275;0.224)		ACCTCCAAGCGTTCAAAGTGA	0.552													G|||	1	0.000199681	0	0	5008	,	,		17483	0		0.001	False		,,,				2504	0					ENST00000311916.2																			0				breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|stomach(1)	24						c.(2044-2046)cGt>cAt		chromosome 10 open reading frame 2		G	,HIS/ARG,,HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	34	38	37		,683,,2045	0.2	0	10		37	4,8596	3.7+/-12.6	0,4,4296	yes	utr-3,missense,utr-3,missense	C10orf2	NM_001163812.1,NM_001163813.1,NM_001163814.1,NM_021830.4	,29,,29	0,5,6498	AA,AG,GG		0.0465,0.0227,0.0384	,benign,,benign	,228/231,,682/685	102753257	5,13001	2203	4300	6503	SO:0001583	missense	56652				cell death|mitochondrial DNA replication|protein hexamerization|protein homooligomerization|transcription from mitochondrial promoter	mitochondrial nucleoid	5'-3' DNA helicase activity|ATP binding|protease binding|single-stranded DNA binding	g.chr10:102753257G>A	AF292004	CCDS7506.1, CCDS53570.1	10q24	2013-05-13			ENSG00000107815	ENSG00000107815			1160	protein-coding gene	gene with protein product	"twinkle", "T7 helicase-related protein with intramitochondrial nucleoid localization"	606075	"infantile onset spinocerebellar ataxia (autosomal recessive)"	IOSCA		11431692, 10645945, 16135556	Standard	NM_021830		Approved	PEO, PEO1, TWINKLE, FLJ21832, TWINL	uc001ksf.2	Q96RR1	OTTHUMG00000018917	ENST00000311916.2:c.2045G>A	10.37:g.102753257G>A	ENSP00000309595:p.Arg682His					C10orf2_ENST00000473656.1_3'UTR|C10orf2_ENST00000370228.1_3'UTR	p.R682H	NM_001163813.1|NM_021830.4	NP_001157285.1|NP_068602.2	Q96RR1	PEO1_HUMAN		Epithelial(162;7.18e-11)|all cancers(201;8.75e-09)|BRCA - Breast invasive adenocarcinoma(275;0.224)	5	2230	+		Colorectal(252;0.122)|all_hematologic(284;0.152)	682					B2CQL2|Q6MZX2|Q6PJP5|Q96RR0	Missense_Mutation	SNP	ENST00000311916.2	37	c.2045G>A	CCDS7506.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	10.32	1.318556	0.23994	2.27E-4	4.65E-4	ENSG00000107815	ENST00000311916	D	0.93604	-3.25	4.19	0.238	0.15480	.	0.547984	0.16863	N	0.196444	T	0.78065	0.4225	N	0.08118	0	0.09310	N	1	P	0.34892	0.474	B	0.22386	0.039	T	0.70223	-0.4931	9	.	.	.	-27.8466	4.0212	0.09667	0.0:0.5149:0.1808:0.3044	.	682	Q96RR1	PEO1_HUMAN	H	682	ENSP00000309595:R682H	.	R	+	2	0	C10orf2	102743247	0.692000	0.27719	0.001000	0.08648	0.182000	0.23217	1.027000	0.30115	0.059000	0.16252	-0.802000	0.03209	CGT		0.552	C10orf2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049886.1	NM_021830		10	30	0	0	0	1	0	10	30					A	102753257	G	A	102753257	3	1	406	1	0	0	0	0	1	0	0	0	1597	1145	40	1	2078	1	C10orf2	10	102753257	Missense_Mutation	SNP	G	TCGA-VN-A88Q-01A-11D-A34U-08	27702132	102753257	32781490	32	19765											
MUC5B	727897	broad.mit.edu	37	chr11	1248357	1248357	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtgctgacattcctgtggaaCggagaggacagtgccctggt	8	9	15	9	1	0	2	0	1	0	1	1	5	1	4	2	4	3	1	2	4	1	1	rs370483469		TCGA-VN-A88Q-01A-11D-A34U-08	TCGA-VN-A88Q-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01ba16d8-9bb6-47e4-a32c-887197f7b36d	3d8fd88e-7661-4504-aa5b-a45bb03b8ee1	g.chr11:1248357C>T	ENST00000529681.1	+	5	616	c.558C>T	c.(556-558)aaC>aaT	p.N186N	MUC5B_ENST00000447027.1_Silent_p.N186N	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	186	VWFD 1. {ECO:0000255|PROSITE- ProRule:PRU00580}.				cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		TCCTGTGGAACGGAGAGGACA	0.662																																						ENST00000447027.1																			0				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137						c.(556-558)aaC>aaT		mucin 5B, oligomeric mucus/gel-forming		C		1,4039		0,1,2019	35	39	38		558	-1.2	0.3	11		38	0,8322		0,0,4161	no	coding-synonymous	MUC5B	NM_002458.2		0,1,6180	TT,TC,CC		0.0,0.0248,0.0081		186/5763	1248357	1,12361	2020	4161	6181	SO:0001819	synonymous_variant	727897				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	g.chr11:1248357C>T	U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"Mucins"	7516	protein-coding gene	gene with protein product		600770	"mucin 5, subtype B, tracheobronchial"	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.558C>T	11.37:g.1248357C>T						MUC5B_ENST00000529681.1_Silent_p.N186N	p.N186N			Q9HC84	MUC5B_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)	5	616	+		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	186			VWFD 1.		O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Silent	SNP	ENST00000529681.1	37	c.558C>T	CCDS44515.2																																																																																				0.662	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093		8	25	0	0	0	1	0	8	25					T	1248357	C	T	1248357	2	4	406	1	0	0	0	0	0	0	0	1	9979	535	19	1		1	MUC5B	11	1248357	Silent	SNP	C	TCGA-VN-A88Q-01A-11D-A34U-08		1248357	133758159	33	19766											
OR2D2	120776	broad.mit.edu	37	chr11	6913396	6913396	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gacatcactgcaagaagggcGcactgggtacacccaaaaat	15	5	10	11	1	1	1	1	0	0	1	1	2	1	1	1	2	2	3	1	2	5	1	rs140944764		TCGA-VN-A88Q-01A-11D-A34U-08	TCGA-VN-A88Q-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01ba16d8-9bb6-47e4-a32c-887197f7b36d	3d8fd88e-7661-4504-aa5b-a45bb03b8ee1	g.chr11:6913396G>A	ENST00000299459.2	-	1	434	c.336C>T	c.(334-336)tgC>tgT	p.C112C		NM_003700.1	NP_003691.1	Q9H210	OR2D2_HUMAN	olfactory receptor, family 2, subfamily D, member 2	112					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(3)|lung(9)|ovary(1)|skin(2)	18		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		CAAGAAGGGCGCACTGGGTAC	0.488																																						ENST00000299459.2																			0				breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(3)|lung(9)|ovary(1)|skin(2)	18						c.(334-336)tgC>tgT		olfactory receptor, family 2, subfamily D, member 2				0,4402		0,0,2201	120	97	104		336	4.1	1	11	dbSNP_134	104	1,8591	1.2+/-3.3	0,1,4295	no	coding-synonymous	OR2D2	NM_003700.1		0,1,6496	AA,AG,GG		0.0116,0.0,0.0077		112/309	6913396	1,12993	2201	4296	6497	SO:0001819	synonymous_variant	120776				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:6913396G>A	AB065824	CCDS31416.1	11p15.4	2012-08-09			ENSG00000166368	ENSG00000166368		"GPCR / Class A : Olfactory receptors"	8244	protein-coding gene	gene with protein product		608494		OR2D1		9787077	Standard	NM_003700		Approved	OR11-610, hg27	uc010rau.2	Q9H210	OTTHUMG00000165741	ENST00000299459.2:c.336C>T	11.37:g.6913396G>A							p.C112C	NM_003700.1	NP_003691.1	Q9H210	OR2D2_HUMAN		Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)	1	434	-		Medulloblastoma(188;0.0523)|all_neural(188;0.236)	112					B9EIL5|O95224|Q6IF28|Q8NGH4|Q96R52	Silent	SNP	ENST00000299459.2	37	c.336C>T	CCDS31416.1																																																																																				0.488	OR2D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385986.1	NM_003700		18	55	0	0	0	1	0	18	55					A	6913396	G	A	6913396	2	1	406	1	0	0	0	0	0	0	0	1	10994	1079	38	1		1	OR2D2	11	6913396	Silent	SNP	G	TCGA-VN-A88Q-01A-11D-A34U-08	5665039	6913396	128093120	34	19767											
NUP160	23279	broad.mit.edu	37	chr11	47861461	47861461	+	Frame_Shift_Del	DEL	G	G	-																															agcacatggtaaggcaaacaGggcctccccatcactgctga																										TCGA-VN-A88Q-01A-11D-A34U-08	TCGA-VN-A88Q-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01ba16d8-9bb6-47e4-a32c-887197f7b36d	3d8fd88e-7661-4504-aa5b-a45bb03b8ee1	g.chr11:47861461delG	ENST00000378460.2	-	4	728	c.682delC	c.(682-684)ctgfs	p.L228fs	NUP160_ENST00000526870.1_3'UTR|NUP160_ENST00000530326.1_Frame_Shift_Del_p.L114fs|NUP160_ENST00000532747.1_Intron|NUP160_ENST00000528071.1_Frame_Shift_Del_p.L114fs	NM_015231.1	NP_056046.1	Q12769	NU160_HUMAN	nucleoporin 160kDa	228					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA export from nucleus (GO:0006406)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)|nuclear pore outer ring (GO:0031080)	nucleocytoplasmic transporter activity (GO:0005487)			NS(1)|biliary_tract(2)|breast(7)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(6)|prostate(2)|skin(2)|urinary_tract(2)	53						AAGGCAAACAGGGCCTCCCCA	0.458																																						ENST00000378460.2																			0				NS(1)|biliary_tract(2)|breast(7)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(6)|prostate(2)|skin(2)|urinary_tract(2)	53						c.(682-684)tgfs		nucleoporin 160kDa							160	153	155					11																	47861461		2201	4298	6499	SO:0001589	frameshift_variant	23279				carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|Nup107-160 complex	nucleocytoplasmic transporter activity|protein binding	g.chr11:47861461delG	D83781	CCDS31484.1	11p11.12	2008-07-21	2002-08-29		ENSG00000030066	ENSG00000030066			18017	protein-coding gene	gene with protein product		607614	"nucleoporin 160kD"			11684705	Standard	NM_015231		Approved	KIAA0197, FLJ22583	uc001ngm.3	Q12769	OTTHUMG00000166534	ENST00000378460.2:c.682delC	11.37:g.47861461delG	ENSP00000367721:p.Leu228fs					NUP160_ENST00000532747.1_Intron|NUP160_ENST00000528071.1_Frame_Shift_Del_p.L114fs|NUP160_ENST00000530326.1_Frame_Shift_Del_p.L114fs|NUP160_ENST00000526870.1_3'UTR	p.L228fs	NM_015231.1	NP_056046.1	Q12769	NU160_HUMAN			4	728	-			228					B4DYE8|B4E2J9|Q08AD3|Q7Z5X6|Q96GB3|Q9H660	Frame_Shift_Del	DEL	ENST00000378460.2	37	c.682delC	CCDS31484.1																																																																																				0.458	NUP160-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390239.2	NM_015231		32	68						32	68	---	---	---	---	-	47861461	G	-	47861461	7	5	406	1	0	1	0	1	0	0	0	0	10757	991	35	0	3760	0	NUP160	11	47861461	Frame_Shift_Del	DEL	G	TCGA-VN-A88Q-01A-11D-A34U-08	40948065	47861461	87145055	35	19768											
KCNK4	50801	broad.mit.edu	37	chr11	64064397	64064397	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcggacccagaaaccaactcGaccagcaacagcagccactc	14	2	8	17	2	0	1	0	0	0	1	2	3	0	2	4	1	6	2	4	1	3	0	rs371707971		TCGA-VN-A88Q-01A-11D-A34U-08	TCGA-VN-A88Q-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01ba16d8-9bb6-47e4-a32c-887197f7b36d	3d8fd88e-7661-4504-aa5b-a45bb03b8ee1	g.chr11:64064397G>A	ENST00000539216.1	+	2	597	c.237G>A	c.(235-237)tcG>tcA	p.S79S	KCNK4_ENST00000422670.2_Silent_p.S79S|Y_RNA_ENST00000384297.1_RNA|RP11-783K16.10_ENST00000539086.1_RNA|KCNK4_ENST00000538767.1_Missense_Mutation_p.R13Q|KCNK4_ENST00000394525.2_Silent_p.S79S|KCNK4_ENST00000539651.1_3'UTR			Q9NYG8	KCNK4_HUMAN	potassium channel, subfamily K, member 4	79					potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	potassium channel activity (GO:0005267)|voltage-gated ion channel activity (GO:0005244)			breast(2)|large_intestine(2)|lung(3)|prostate(2)|urinary_tract(1)	10						AAACCAACTCGACCAGCAACA	0.612																																						ENST00000538767.1																			0				breast(2)|large_intestine(2)|lung(3)|prostate(2)|urinary_tract(1)	10						c.(37-39)cGa>cAa		potassium channel, subfamily K, member 4		G		0,4402		0,0,2201	52	61	58		237	-1.1	1	11		58	1,8593	1.2+/-3.3	0,1,4296	no	coding-synonymous	KCNK4	NM_033310.2		0,1,6497	AA,AG,GG		0.0116,0.0,0.0077		79/394	64064397	1,12995	2201	4297	6498	SO:0001819	synonymous_variant	50801					integral to membrane	potassium channel activity|voltage-gated ion channel activity	g.chr11:64064397G>A	AF247042	CCDS8067.1	11q13	2012-03-07			ENSG00000182450	ENSG00000182450		"Potassium channels", "Voltage-gated ion channels / Potassium channels, Two-P"	6279	protein-coding gene	gene with protein product		605720				10767409, 16382106	Standard	NM_033310		Approved	K2p4.1, TRAAK	uc001nzk.1	Q9NYG8	OTTHUMG00000168006	ENST00000539216.1:c.237G>A	11.37:g.64064397G>A						KCNK4_ENST00000422670.2_Silent_p.S79S|KCNK4_ENST00000394525.2_Silent_p.S79S|KCNK4_ENST00000539216.1_Silent_p.S79S|RP11-783K16.10_ENST00000539086.1_RNA|KCNK4_ENST00000539651.1_3'UTR	p.R13Q			Q9NYG8	KCNK4_HUMAN			2	290	+			379					B5TJL1|Q96T94	Missense_Mutation	SNP	ENST00000539216.1	37	c.38G>A	CCDS8067.1	.	.	.	.	.	.	.	.	.	.	g	13.35	2.211502	0.39102	0.0	1.16E-4	ENSG00000182450	ENST00000538767	.	.	.	5.3	-1.06	0.10002	.	.	.	.	.	T	0.44393	0.1291	.	.	.	0.58432	D	0.999994	B;B	0.18166	0.026;0.026	B;B	0.06405	0.002;0.002	T	0.31392	-0.9945	7	0.87932	D	0	.	7.9049	0.29757	0.2625:0.5895:0.148:0.0	.	13;13	B4DJC9;F5GYE0	.;.	Q	13	.	ENSP00000446454:R13Q	R	+	2	0	KCNK4	63820973	0.000000	0.05858	0.995000	0.50966	0.997000	0.91878	-0.347000	0.07750	-0.118000	0.11851	0.550000	0.68814	CGA		0.612	KCNK4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396430.1	NM_033311		12	35	0	0	0	1	0	12	35					A	64064397	G	A	64064397	2	1	406	1	0	0	0	0	0	0	0	1	8068	1045	37	2		2	KCNK4	11	64064397	Silent	SNP	G	TCGA-VN-A88Q-01A-11D-A34U-08	16202936	64064397	70942119	36	19769											
SFRS2B	10929	broad.mit.edu	37	chr11	94800909	94800909	+	RNA	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cggtcgcgctacagcgctctCcctacagcagatctcgctac	7	8	9	17	5	2	1	0	0	2	1	5	1	2	1	1	1	5	4	1	1	3	3			TCGA-VN-A88Q-01A-11D-A34U-08	TCGA-VN-A88Q-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01ba16d8-9bb6-47e4-a32c-887197f7b36d	3d8fd88e-7661-4504-aa5b-a45bb03b8ee1	g.chr11:94800909C>A	ENST00000529911.1	+	0	549					NM_032102.3	NP_115285.1	Q9BRL6	SRSF8_HUMAN	serine/arginine-rich splicing factor 8						mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)										ACAGCGCTCTCCCTACAGCAG	0.587																																						ENST00000529911.1																			0													serine/arginine-rich splicing factor 8							44	48	47					11																	94800909		2033	4176	6209			10929				mRNA processing|RNA splicing	nucleus	nucleotide binding|RNA binding	g.chr11:94800909C>A	AF031166	CCDS73370.1	11q21	2014-05-06	2010-06-22	2010-06-22	ENSG00000180771	ENSG00000263465		"Serine/arginine-rich splicing factors"	16988	protein-coding gene	gene with protein product	"SR splicing factor 8"	603269	"splicing factor, arginine/serine-rich 2B"	SFRS2B		9671500, 20516191	Standard	NM_032102		Approved	SRP46	uc001pff.3	Q9BRL6	OTTHUMG00000188534		11.37:g.94800909C>A								NM_032102.3	NP_115285.1	Q9BRL6	SRSF8_HUMAN			0	549	+								B2R6B8|Q6PF01|Q96TA3	RNA	SNP	ENST00000529911.1	37																																																																																						0.587	SRSF8-002	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000390962.3	NM_032102		7	54	1	0	2.0095e-06	1	2.07762e-06	7	54					A	94800909	C	A	94800909	1	1	406	0	1	0	0	0	0	0	0	0	14176	842	30	5		5	SFRS2B	11	94800909	RNA	SNP	C	TCGA-VN-A88Q-01A-11D-A34U-08	30736512	94800909	40205607	37	19770											
TMEM132D	121256	broad.mit.edu	37	chr12	129559089	129559089	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgctggggatggtctgcaaGtggctgttgtcatctaaaag	8	12	14	7	1	3	0	1	0	2	0	4	1	3	1	0	4	1	4	0	4	3	2			TCGA-VN-A88Q-01A-11D-A34U-08	TCGA-VN-A88Q-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01ba16d8-9bb6-47e4-a32c-887197f7b36d	3d8fd88e-7661-4504-aa5b-a45bb03b8ee1	g.chr12:129559089G>C	ENST00000422113.2	-	9	2957	c.2631C>G	c.(2629-2631)caC>caG	p.H877Q	TMEM132D_ENST00000389441.4_Missense_Mutation_p.H415Q	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	877					negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		TGGTCTGCAAGTGGCTGTTGT	0.557																																						ENST00000422113.2																			0				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152						c.(2629-2631)caC>caG		transmembrane protein 132D							86	85	86					12																	129559089		2203	4300	6503	SO:0001583	missense	121256					integral to membrane		g.chr12:129559089G>C	AB061814	CCDS9266.1	12q24.32-q24.33	2014-06-13			ENSG00000151952	ENSG00000151952			29411	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 153"	611257				11853319, 12966072	Standard	NM_133448		Approved	KIAA1944, MOLT, PPP1R153	uc009zyl.1	Q14C87	OTTHUMG00000168400	ENST00000422113.2:c.2631C>G	12.37:g.129559089G>C	ENSP00000408581:p.His877Gln					TMEM132D_ENST00000389441.4_Missense_Mutation_p.H415Q	p.H877Q	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)	9	2957	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)	877					Q14C96|Q76M59|Q8N1W9|Q8N3Q5|Q8TF57	Missense_Mutation	SNP	ENST00000422113.2	37	c.2631C>G	CCDS9266.1	.	.	.	.	.	.	.	.	.	.	G	0.106	-1.145615	0.01714	.	.	ENSG00000151952	ENST00000389441;ENST00000422113	T;T	0.08546	3.08;3.89	4.05	-1.23	0.09465	.	4.852420	0.00550	N	0.000248	T	0.03871	0.0109	N	0.02802	-0.49	0.09310	N	1	P;B	0.36249	0.545;0.011	B;B	0.34931	0.192;0.005	T	0.29610	-1.0006	9	.	.	.	-0.8812	7.4247	0.27092	0.2962:0.137:0.5667:0.0	.	877;415	Q14C87;Q14C87-2	T132D_HUMAN;.	Q	415;877	ENSP00000374092:H415Q;ENSP00000408581:H877Q	.	H	-	3	2	TMEM132D	128125042	0.000000	0.05858	0.000000	0.03702	0.017000	0.09413	-1.594000	0.02094	-0.130000	0.11599	0.462000	0.41574	CAC		0.557	TMEM132D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399592.1	NM_133448		18	69	0	0	0	1	0	18	69					C	129559089	G	C	129559089	3	2	406	1	0	0	0	0	1	0	0	0	16044	1020	36	5	672	5	TMEM132D	12	129559089	Missense_Mutation	SNP	G	TCGA-VN-A88Q-01A-11D-A34U-08		129559089	4292806	38	19771											
TPTE2	93492	broad.mit.edu	37	chr13	20039450	20039450	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cttgtgtatcgccttttgttTtctgaaacctgagagtttaa	8	18	8	7	1	1	2	0	2	1	1	2	3	1	2	2	0	1	3	2	0	3	8			TCGA-VN-A88Q-01A-11D-A34U-08	TCGA-VN-A88Q-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01ba16d8-9bb6-47e4-a32c-887197f7b36d	3d8fd88e-7661-4504-aa5b-a45bb03b8ee1	g.chr13:20039450T>G	ENST00000400230.2	-	9	665	c.621A>C	c.(619-621)gaA>gaC	p.E207D	TPTE2_ENST00000255310.6_Missense_Mutation_p.E130D|TPTE2_ENST00000382977.4_Missense_Mutation_p.E207D|TPTE2_ENST00000390680.2_Missense_Mutation_p.E130D|TPTE2_ENST00000382978.1_Missense_Mutation_p.E167D|TPTE2_ENST00000457266.2_Missense_Mutation_p.E96D|TPTE2_ENST00000400103.2_Missense_Mutation_p.E96D|TPTE2_ENST00000382975.4_Missense_Mutation_p.E167D			Q6XPS3	TPTE2_HUMAN	transmembrane phosphoinositide 3-phosphatase and tensin homolog 2	207					phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	ion channel activity (GO:0005216)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)		GCCTTTTGTTTTCTGAAACCT	0.323																																						ENST00000400230.2																			0				NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						c.(619-621)gaA>gaC		transmembrane phosphoinositide 3-phosphatase and tensin homolog 2							179	164	169					13																	20039450		2203	4300	6503	SO:0001583	missense	93492					endoplasmic reticulum membrane|integral to membrane	ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr13:20039450T>G	AJ421032	CCDS9285.1, CCDS45013.1, CCDS45014.1	13q12.11	2012-12-10			ENSG00000132958	ENSG00000132958		"Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"	17299	protein-coding gene	gene with protein product		606791				11716755, 12717346, 15057823	Standard	NM_130785		Approved	TPIP	uc001umd.3	Q6XPS3	OTTHUMG00000016493	ENST00000400230.2:c.621A>C	13.37:g.20039450T>G	ENSP00000383089:p.Glu207Asp					TPTE2_ENST00000255310.6_Missense_Mutation_p.E130D|TPTE2_ENST00000457266.2_Missense_Mutation_p.E96D|TPTE2_ENST00000382975.4_Missense_Mutation_p.E167D|TPTE2_ENST00000382977.4_Missense_Mutation_p.E207D|TPTE2_ENST00000382978.1_Missense_Mutation_p.E167D|TPTE2_ENST00000390680.2_Missense_Mutation_p.E130D|TPTE2_ENST00000400103.2_Missense_Mutation_p.E96D	p.E207D			Q6XPS3	TPTE2_HUMAN		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)	9	665	-		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)	207					A1A4X0|A1A4X1|A8MX64|B1AQ16|B4DWZ2|Q5VUH2|Q8WWL4|Q8WWL5	Missense_Mutation	SNP	ENST00000400230.2	37	c.621A>C	CCDS45014.1	.	.	.	.	.	.	.	.	.	.	t	12.17	1.856694	0.32791	.	.	ENSG00000132958	ENST00000382978;ENST00000400103;ENST00000400230;ENST00000255310;ENST00000390680;ENST00000382977;ENST00000382975;ENST00000457266;ENST00000343548;ENST00000419256	T;T;T;T;T;T;T;T	0.28454	1.61;1.61;1.61;1.61;1.61;1.61;1.61;1.61	2.55	1.28	0.21552	.	0.113220	0.64402	D	0.000019	T	0.39733	0.1089	L	0.55990	1.75	0.36741	D	0.882228	P;P;D	0.56746	0.902;0.848;0.977	P;P;D	0.64595	0.65;0.535;0.927	T	0.37957	-0.9683	9	.	.	.	-11.5531	4.5697	0.12203	0.3063:0.0:0.0:0.6937	.	96;130;207	A8MX64;Q6XPS3-3;Q6XPS3	.;.;TPTE2_HUMAN	D	167;96;207;130;130;207;167;96;207;76	ENSP00000372438:E167D;ENSP00000382974:E96D;ENSP00000383089:E207D;ENSP00000255310:E130D;ENSP00000375098:E130D;ENSP00000372437:E207D;ENSP00000372435:E167D;ENSP00000442218:E96D	.	E	-	3	2	TPTE2	18937450	1.000000	0.71417	0.865000	0.33974	0.358000	0.29455	0.668000	0.25127	0.352000	0.24053	0.383000	0.25322	GAA		0.323	TPTE2-205	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_199254		45	108	0	0	0	1	0	45	108					G	20039450	T	G	20039450	3	3	406	1	0	0	0	0	1	0	0	0	16428	1838	64	5	995	5	TPTE2	13	20039450	Missense_Mutation	SNP	T	TCGA-VN-A88Q-01A-11D-A34U-08		20039450	95130428	39	19772											
CDK8	1024	broad.mit.edu	37	chr13	26975611	26975611	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	taaccaattgagaagaaccaGcagcagcagcagggcaataa	18	4	10	9	0	0	2	0	1	0	2	0	3	0	2	2	1	6	5	2	1	6	3			TCGA-VN-A88Q-01A-11D-A34U-08	TCGA-VN-A88Q-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01ba16d8-9bb6-47e4-a32c-887197f7b36d	3d8fd88e-7661-4504-aa5b-a45bb03b8ee1	g.chr13:26975611G>C	ENST00000381527.3	+	12	1622	c.1119G>C	c.(1117-1119)caG>caC	p.Q373H	CDK8_ENST00000536792.1_3'UTR|CDK8_ENST00000480323.1_3'UTR	NM_001260.1	NP_001251.1	P49336	CDK8_HUMAN	cyclin-dependent kinase 8	373	Poly-Gln.				gene expression (GO:0010467)|Notch signaling pathway (GO:0007219)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	mediator complex (GO:0016592)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	25	Colorectal(5;0.000442)	Lung SC(185;0.0156)|Breast(139;0.147)		all cancers(112;0.0384)|Epithelial(112;0.142)|OV - Ovarian serous cystadenocarcinoma(117;0.188)		AGAAGAACCAGCAGCAGCAGC	0.458																																						ENST00000381527.3																			0				breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	25						c.(1117-1119)caG>caC		cyclin-dependent kinase 8							51	51	51					13																	26975611		2203	4300	6503	SO:0001583	missense	1024				regulation of transcription, DNA-dependent|transcription, DNA-dependent	mediator complex	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity	g.chr13:26975611G>C	X85753	CCDS9317.1	13q12	2011-11-08			ENSG00000132964	ENSG00000132964		"Cyclin-dependent kinases"	1779	protein-coding gene	gene with protein product		603184				7568034	Standard	NM_001260		Approved	K35	uc001uqr.1	P49336	OTTHUMG00000016617	ENST00000381527.3:c.1119G>C	13.37:g.26975611G>C	ENSP00000370938:p.Gln373His					CDK8_ENST00000480323.1_3'UTR|CDK8_ENST00000536792.1_3'UTR	p.Q373H	NM_001260.1	NP_001251.1	P49336	CDK8_HUMAN		all cancers(112;0.0384)|Epithelial(112;0.142)|OV - Ovarian serous cystadenocarcinoma(117;0.188)	12	1622	+	Colorectal(5;0.000442)	Lung SC(185;0.0156)|Breast(139;0.147)	373			Poly-Gln.		Q5VUF3|Q6ISB5	Missense_Mutation	SNP	ENST00000381527.3	37	c.1119G>C	CCDS9317.1	.	.	.	.	.	.	.	.	.	.	G	16.84	3.235234	0.58886	.	.	ENSG00000132964	ENST00000381527	T	0.70045	-0.45	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	T	0.65554	0.2702	M	0.63843	1.955	0.80722	D	1	P;P	0.41848	0.763;0.65	B;B	0.41202	0.35;0.19	T	0.66822	-0.5826	10	0.44086	T	0.13	-8.6083	13.3154	0.60405	0.0722:0.0:0.9278:0.0	.	372;373	P49336-2;P49336	.;CDK8_HUMAN	H	373	ENSP00000370938:Q373H	ENSP00000370938:Q373H	Q	+	3	2	CDK8	25873611	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.185000	0.72013	2.757000	0.94681	0.655000	0.94253	CAG		0.458	CDK8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044250.1			3	47	0	0	0	1	0	3	47					C	26975611	G	C	26975611	3	2	406	1	0	0	0	0	1	0	0	0	3150	962	34	5	1165	5	CDK8	13	26975611	Missense_Mutation	SNP	G	TCGA-VN-A88Q-01A-11D-A34U-08	6936161	26975611	88194267	40	19773											
TOX4	9878	broad.mit.edu	37	chr14	21945674	21945674	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtttcccggaggaaatgacaAttacctgacgatcacagggc	12	8	11	10	2	1	2	1	2	0	0	2	5	2	4	2	3	1	1	2	3	3	2			TCGA-VN-A88Q-01A-11D-A34U-08	TCGA-VN-A88Q-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01ba16d8-9bb6-47e4-a32c-887197f7b36d	3d8fd88e-7661-4504-aa5b-a45bb03b8ee1	g.chr14:21945674A>G	ENST00000405508.1	+	3	302	c.26A>G	c.(25-27)aAt>aGt	p.N9S	RAB2B_ENST00000397762.1_5'Flank|TOX4_ENST00000494242.1_3'UTR|RAB2B_ENST00000461909.1_5'Flank|TOX4_ENST00000262709.3_Missense_Mutation_p.N9S|TOX4_ENST00000448790.2_Intron			O94842	TOX4_HUMAN	TOX high mobility group box family member 4	9						chromatin (GO:0000785)|nucleus (GO:0005634)|PTW/PP1 phosphatase complex (GO:0072357)	DNA binding (GO:0003677)			large_intestine(8)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	all_cancers(95;0.000465)		Epithelial(56;6.61e-06)|all cancers(55;5.15e-05)	GBM - Glioblastoma multiforme(265;0.0149)		GGAAATGACAATTACCTGACG	0.607											OREG0022569	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000405508.1																			0				large_intestine(8)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						c.(25-27)aAt>aGt		TOX high mobility group box family member 4							80	80	80					14																	21945674		2203	4300	6503	SO:0001583	missense	9878					chromatin|nucleus|PTW/PP1 phosphatase complex	DNA binding|protein binding	g.chr14:21945674A>G	AB018280	CCDS32043.1	14q11.2	2007-03-20	2007-03-20	2007-03-20	ENSG00000092203	ENSG00000092203			20161	protein-coding gene	gene with protein product		614032	"chromosome 14 open reading frame 92", "KIAA0737"	C14orf92, KIAA0737			Standard	NM_014828		Approved	LCP1	uc001waz.3	O94842	OTTHUMG00000150278	ENST00000405508.1:c.26A>G	14.37:g.21945674A>G	ENSP00000385102:p.Asn9Ser		OREG0022569	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	752	TOX4_ENST00000448790.2_Intron|TOX4_ENST00000494242.1_3'UTR|TOX4_ENST00000262709.3_Missense_Mutation_p.N9S	p.N9S			O94842	TOX4_HUMAN	Epithelial(56;6.61e-06)|all cancers(55;5.15e-05)	GBM - Glioblastoma multiforme(265;0.0149)	3	302	+	all_cancers(95;0.000465)		9					B4DPY8|B4DSM0|E7EV69	Missense_Mutation	SNP	ENST00000405508.1	37	c.26A>G	CCDS32043.1	.	.	.	.	.	.	.	.	.	.	A	15.27	2.783561	0.49891	.	.	ENSG00000092203	ENST00000416256;ENST00000405508;ENST00000262709	T;T;T	0.42513	0.97;2.71;2.71	5.98	5.98	0.97165	.	0.092656	0.64402	D	0.000001	T	0.27205	0.0667	N	0.17474	0.49	0.80722	D	1	B	0.21688	0.059	B	0.18263	0.021	T	0.11867	-1.0570	10	0.10377	T	0.69	.	15.4522	0.75282	1.0:0.0:0.0:0.0	.	9	O94842	TOX4_HUMAN	S	38;9;9	ENSP00000402195:N38S;ENSP00000385102:N9S;ENSP00000262709:N9S	ENSP00000262709:N9S	N	+	2	0	TOX4	21015514	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.625000	0.61262	2.289000	0.77006	0.482000	0.46254	AAT		0.607	TOX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317287.2	NM_014828		29	82	0	0	0	1	0	29	82					G	21945674	A	G	21945674	3	3	406	1	0	0	0	0	1	0	0	0	16377	101	4	4	32	4	TOX4	14	21945674	Missense_Mutation	SNP	A	TCGA-VN-A88Q-01A-11D-A34U-08		21945674	85403866	41	19774											
RPGRIP1L	23322	broad.mit.edu	37	chr16	53730090	53730090	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ttttatcctcctgcttgcggGcatgctgtttaagtaaaatg	8	16	9	8	1	0	0	0	0	0	0	2	0	2	0	2	1	3	5	2	1	4	6			TCGA-VN-A88Q-01A-11D-A34U-08	TCGA-VN-A88Q-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01ba16d8-9bb6-47e4-a32c-887197f7b36d	3d8fd88e-7661-4504-aa5b-a45bb03b8ee1	g.chr16:53730090G>A	ENST00000379925.3	-	3	253	c.203C>T	c.(202-204)gCc>gTc	p.A68V	RPGRIP1L_ENST00000262135.4_Missense_Mutation_p.A68V|RPGRIP1L_ENST00000564374.1_Missense_Mutation_p.A68V|RPGRIP1L_ENST00000566096.1_Missense_Mutation_p.A68V|RPGRIP1L_ENST00000568653.3_Missense_Mutation_p.A68V|RPGRIP1L_ENST00000563746.1_Missense_Mutation_p.A68V	NM_015272.2	NP_056087.2	Q68CZ1	FTM_HUMAN	RPGRIP1-like	68					camera-type eye development (GO:0043010)|cerebellum development (GO:0021549)|cilium assembly (GO:0042384)|corpus callosum development (GO:0022038)|determination of left/right symmetry (GO:0007368)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|establishment or maintenance of cell polarity (GO:0007163)|head development (GO:0060322)|in utero embryonic development (GO:0001701)|kidney development (GO:0001822)|lateral ventricle development (GO:0021670)|liver development (GO:0001889)|negative regulation of G-protein coupled receptor protein signaling pathway (GO:0045744)|neural tube patterning (GO:0021532)|nose development (GO:0043584)|olfactory bulb development (GO:0021772)|pericardium development (GO:0060039)|regulation of smoothened signaling pathway (GO:0008589)	axoneme (GO:0005930)|cell-cell junction (GO:0005911)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|cytoplasm (GO:0005737)|tight junction (GO:0005923)	thromboxane A2 receptor binding (GO:0031870)			endometrium(6)|kidney(3)|large_intestine(9)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(2)	46		all_cancers(37;0.0973)				CTGCTTGCGGGCATGCTGTTT	0.373																																						ENST00000262135.4																			0				endometrium(6)|kidney(3)|large_intestine(9)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(2)	46						c.(202-204)gCc>gTc		RPGRIP1-like							129	132	131					16																	53730090		2198	4300	6498	SO:0001583	missense	23322				negative regulation of G-protein coupled receptor protein signaling pathway	cell-cell junction|centrosome|cilium axoneme|microtubule basal body	thromboxane A2 receptor binding	g.chr16:53730090G>A		CCDS32447.1, CCDS45486.1	16q12.2	2014-09-17				ENSG00000103494			29168	protein-coding gene	gene with protein product	"fantom homolog", "Meckel syndrome, type 5", "protein phosphatase 1, regulatory subunit 134"	610937				10231032	Standard	NM_015272		Approved	KIAA1005, CORS3, JBTS7, MKS5, NPHP8, FTM, PPP1R134	uc002ehp.3	Q68CZ1		ENST00000379925.3:c.203C>T	16.37:g.53730090G>A	ENSP00000369257:p.Ala68Val					RPGRIP1L_ENST00000566096.1_Missense_Mutation_p.A68V|RPGRIP1L_ENST00000564374.1_Missense_Mutation_p.A68V|RPGRIP1L_ENST00000563746.1_Missense_Mutation_p.A68V|RPGRIP1L_ENST00000379925.3_Missense_Mutation_p.A68V|RPGRIP1L_ENST00000568653.3_Missense_Mutation_p.A68V	p.A68V	NM_001127897.1	NP_001121369.1	Q68CZ1	FTM_HUMAN			3	296	-		all_cancers(37;0.0973)	68					A0PJ88|Q9Y2K8	Missense_Mutation	SNP	ENST00000379925.3	37	c.203C>T	CCDS32447.1	.	.	.	.	.	.	.	.	.	.	G	28.9	4.960376	0.92791	.	.	ENSG00000103494	ENST00000379925;ENST00000262135	D;D	0.82893	-1.66;-1.66	5.73	5.73	0.89815	.	0.121316	0.56097	D	0.000032	D	0.90466	0.7014	M	0.68952	2.095	0.44798	D	0.9978	D;D;D;D	0.76494	0.97;0.97;0.998;0.999	P;P;D;D	0.72075	0.78;0.78;0.948;0.976	D	0.89417	0.3707	10	0.46703	T	0.11	-8.6039	19.8956	0.96956	0.0:0.0:1.0:0.0	.	68;68;68;68	B4E3M8;B7ZKJ9;Q68CZ1;Q68CZ1-2	.;.;FTM_HUMAN;.	V	68	ENSP00000369257:A68V;ENSP00000262135:A68V	ENSP00000262135:A68V	A	-	2	0	RPGRIP1L	52287591	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	6.063000	0.71162	2.708000	0.92522	0.563000	0.77884	GCC		0.373	RPGRIP1L-009	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000422187.1	NM_015272		4	105	0	0	0	1	0	4	105					A	53730090	G	A	53730090	3	1	406	1	0	0	0	0	1	0	0	0	13550	1203	42	3	3844	3	RPGRIP1L	16	53730090	Missense_Mutation	SNP	G	TCGA-VN-A88Q-01A-11D-A34U-08		53730090	36624663	42	19775											
NEUROD2	4761	broad.mit.edu	37	chr17	37762553	37762553	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ttgggcccgcgcttcttgggCcgctcgccctccgcctcgtc	0	10	12	19	6	1	0	0	0	1	0	5	0	2	0	5	2	0	2	5	2	0	3			TCGA-VN-A88Q-01A-11D-A34U-08	TCGA-VN-A88Q-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01ba16d8-9bb6-47e4-a32c-887197f7b36d	3d8fd88e-7661-4504-aa5b-a45bb03b8ee1	g.chr17:37762553C>A	ENST00000302584.4	-	2	520	c.300G>T	c.(298-300)cgG>cgT	p.R100R		NM_006160.3	NP_006151.3	Q15784	NDF2_HUMAN	neuronal differentiation 2	100					associative learning (GO:0008306)|behavioral fear response (GO:0001662)|cellular response to calcium ion (GO:0071277)|cellular response to electrical stimulus (GO:0071257)|cerebellar cortex development (GO:0021695)|negative regulation of synapse maturation (GO:2000297)|nervous system development (GO:0007399)|neuron development (GO:0048666)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic plasticity (GO:0031915)|protein ubiquitination (GO:0016567)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	nucleus (GO:0005634)	E-box binding (GO:0070888)|protein heterodimerization activity (GO:0046982)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			endometrium(1)|kidney(1)|large_intestine(2)|lung(4)	8	Lung NSC(9;1.15e-09)|all_lung(9;6.24e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Lung(15;0.00549)|LUAD - Lung adenocarcinoma(14;0.0664)			GCTTCTTGGGCCGCTCGCCCT	0.677																																						ENST00000302584.4																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(4)	8						c.(298-300)cgG>cgT		neuronal differentiation 2							33	27	29					17																	37762553		2203	4299	6502	SO:0001819	synonymous_variant	4761				cellular response to calcium ion|cellular response to electrical stimulus|cerebellar cortex development|negative regulation of synapse maturation|positive regulation of calcium-mediated signaling|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of synapse maturation|positive regulation of synaptic plasticity|protein ubiquitination|regulation of transcription from RNA polymerase II promoter	nucleus	E-box binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr17:37762553C>A	U58681	CCDS11338.1	17q12	2013-05-21	2012-02-22		ENSG00000171532	ENSG00000171532		"Basic helix-loop-helix proteins"	7763	protein-coding gene	gene with protein product		601725	"neurogenic differentiation 2"			9119405	Standard	XM_005257409		Approved	NDRF, bHLHa1	uc002hry.3	Q15784	OTTHUMG00000133211	ENST00000302584.4:c.300G>T	17.37:g.37762553C>A							p.R100R	NM_006160.3	NP_006151.3	Q15784	NDF2_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Lung(15;0.00549)|LUAD - Lung adenocarcinoma(14;0.0664)		2	520	-	Lung NSC(9;1.15e-09)|all_lung(9;6.24e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		100					Q8TBI7|Q9UQC6	Silent	SNP	ENST00000302584.4	37	c.300G>T	CCDS11338.1																																																																																				0.677	NEUROD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256931.2	NM_006160		6	5	1	0	0.00116845	1	0.00116845	6	5					A	37762553	C	A	37762553	2	1	406	1	0	0	0	0	0	0	0	1	10349	726	26	5		5	NEUROD2	17	37762553	Silent	SNP	C	TCGA-VN-A88Q-01A-11D-A34U-08		37762553	43432657	43	19776											
KLHL10	317719	broad.mit.edu	37	chr17	40001966	40001966	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccatgcacgaacagaggagtGatgcaagcgccacaacactt	14	5	10	12	2	0	2	0	1	0	1	0	4	0	3	2	1	5	2	2	1	3	1			TCGA-VN-A88Q-01A-11D-A34U-08	TCGA-VN-A88Q-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01ba16d8-9bb6-47e4-a32c-887197f7b36d	3d8fd88e-7661-4504-aa5b-a45bb03b8ee1	g.chr17:40001966G>A	ENST00000293303.4	+	3	1426	c.1273G>A	c.(1273-1275)Gat>Aat	p.D425N	RP11-156E6.1_ENST00000560400.1_RNA	NM_152467.3	NP_689680.2	Q6JEL2	KLH10_HUMAN	kelch-like family member 10	425					cell morphogenesis (GO:0000902)|fertilization (GO:0009566)|homeostasis of number of cells within a tissue (GO:0048873)|male genitalia morphogenesis (GO:0048808)|male gonad development (GO:0008584)|protein ubiquitination (GO:0016567)|spermatid development (GO:0007286)	cytoplasm (GO:0005737)				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	26		Breast(137;0.000162)				ACAGAGGAGTGATGCAAGCGC	0.493																																						ENST00000293303.4																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	26						c.(1273-1275)Gat>Aat		kelch-like family member 10							58	57	57					17																	40001966		2120	4238	6358	SO:0001583	missense	317719					cytoplasm		g.chr17:40001966G>A	AK057224	CCDS42340.1	17q21.2	2013-01-30	2013-01-30		ENSG00000161594	ENSG00000161594		"Kelch-like", "BTB/POZ domain containing"	18829	protein-coding gene	gene with protein product		608778	"kelch-like 10 (Drosophila)"				Standard	NM_152467		Approved	FLJ32662	uc010cxr.3	Q6JEL2	OTTHUMG00000152510	ENST00000293303.4:c.1273G>A	17.37:g.40001966G>A	ENSP00000293303:p.Asp425Asn						p.D425N	NM_152467.3	NP_689680.2	Q6JEL2	KLH10_HUMAN			3	1426	+		Breast(137;0.000162)	425					Q6NW28|Q96MC0	Missense_Mutation	SNP	ENST00000293303.4	37	c.1273G>A	CCDS42340.1	.	.	.	.	.	.	.	.	.	.	G	28.4	4.917348	0.92249	.	.	ENSG00000161594	ENST00000293303	T	0.76316	-1.01	6.07	6.07	0.98685	Galactose oxidase, beta-propeller (1);	0.087208	0.85682	D	0.000000	D	0.84969	0.5590	L	0.46567	1.45	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.75020	0.921;0.985	T	0.82293	-0.0529	9	.	.	.	.	19.2231	0.93806	0.0:0.0:1.0:0.0	.	419;425	B4DXV2;Q6JEL2	.;KLH10_HUMAN	N	425	ENSP00000293303:D425N	.	D	+	1	0	KLHL10	37255492	1.000000	0.71417	0.963000	0.40424	0.941000	0.58515	9.147000	0.94646	2.885000	0.99019	0.655000	0.94253	GAT		0.493	KLHL10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326535.1	NM_152467		34	39	0	0	0	1	0	34	39					A	40001966	G	A	40001966	3	1	406	1	0	0	0	0	1	0	0	0	8366	1290	45	3	1283	3	KLHL10	17	40001966	Missense_Mutation	SNP	G	TCGA-VN-A88Q-01A-11D-A34U-08	2239413	40001966	41193244	44	19777											
EFTUD2	9343	broad.mit.edu	37	chr17	42953449	42953449	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaccgcatgcttgatcagcCgctctgtgttcagcatcacc	7	10	9	15	2	4	1	3	1	1	0	4	1	4	1	3	0	3	6	3	0	0	2			TCGA-VN-A88Q-01A-11D-A34U-08	TCGA-VN-A88Q-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01ba16d8-9bb6-47e4-a32c-887197f7b36d	3d8fd88e-7661-4504-aa5b-a45bb03b8ee1	g.chr17:42953449C>T	ENST00000426333.2	-	10	1019	c.722G>A	c.(721-723)cGg>cAg	p.R241Q	EFTUD2_ENST00000592576.1_Missense_Mutation_p.R231Q|EFTUD2_ENST00000591382.1_Missense_Mutation_p.R241Q|EFTUD2_ENST00000402521.3_Missense_Mutation_p.R206Q	NM_001142605.1|NM_001258354.1|NM_004247.3	NP_001136077.1|NP_001245283.1|NP_004238.3	Q15029	U5S1_HUMAN	elongation factor Tu GTP binding domain containing 2	241	tr-type G. {ECO:0000255|PROSITE- ProRule:PRU01059}.				gene expression (GO:0010467)|GTP catabolic process (GO:0006184)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	Cajal body (GO:0015030)|catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	32		Prostate(33;0.109)				CTTGATCAGCCGCTCTGTGTT	0.507																																					Ovarian(10;65 485 10258 29980 30707)	ENST00000426333.2																			0				breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	32						c.(721-723)cGg>cAg		elongation factor Tu GTP binding domain containing 2							118	106	110					17																	42953449		2203	4300	6503	SO:0001583	missense	9343					Cajal body|catalytic step 2 spliceosome|cytoplasm|nuclear speck	GTP binding|GTPase activity|protein binding	g.chr17:42953449C>T	D21163	CCDS11489.1, CCDS45707.1, CCDS59295.1	17q21.31	2014-08-12			ENSG00000108883	ENSG00000108883			30858	protein-coding gene	gene with protein product	"U5 snRNP specific protein, 116 kD"	603892				9233818	Standard	NM_004247		Approved	U5-116KD, Snrp116, Snu114, SNRNP116	uc002ihn.2	Q15029	OTTHUMG00000179865	ENST00000426333.2:c.722G>A	17.37:g.42953449C>T	ENSP00000392094:p.Arg241Gln					EFTUD2_ENST00000591382.1_Missense_Mutation_p.R241Q|EFTUD2_ENST00000402521.3_Missense_Mutation_p.R206Q|EFTUD2_ENST00000592576.1_Missense_Mutation_p.R231Q	p.R241Q	NM_001142605.1|NM_001258354.1|NM_004247.3	NP_001136077.1|NP_001245283.1|NP_004238.3	Q15029	U5S1_HUMAN			10	1019	-		Prostate(33;0.109)	241					B4DK30|B4DMC0|D3DX58|K7EJ81|Q9BUR0	Missense_Mutation	SNP	ENST00000426333.2	37	c.722G>A	CCDS11489.1	.	.	.	.	.	.	.	.	.	.	C	16.92	3.255400	0.59321	.	.	ENSG00000108883	ENST00000426333;ENST00000262414;ENST00000402521	T;T	0.70631	-0.5;-0.5	4.96	4.96	0.65561	Small GTP-binding protein domain (1);Protein synthesis factor, GTP-binding (1);	0.000000	0.85682	D	0.000000	T	0.68165	0.2971	L	0.38953	1.18	0.80722	D	1	D;D	0.59357	0.985;0.985	P;P	0.48921	0.595;0.595	T	0.64516	-0.6389	10	0.22109	T	0.4	-7.7551	18.4011	0.90516	0.0:1.0:0.0:0.0	.	231;241	B4DMC0;Q15029	.;U5S1_HUMAN	Q	241;231;206	ENSP00000392094:R241Q;ENSP00000385873:R206Q	ENSP00000262414:R231Q	R	-	2	0	EFTUD2	40308975	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.601000	0.82783	2.589000	0.87451	0.591000	0.81541	CGG		0.507	EFTUD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448672.1	NM_004247		4	136	0	0	0	1	0	4	136					T	42953449	C	T	42953449	3	4	406	1	0	0	0	0	1	0	0	0	4961	652	23	2	2272	2	EFTUD2	17	42953449	Missense_Mutation	SNP	C	TCGA-VN-A88Q-01A-11D-A34U-08	2951483	42953449	38241761	45	19778											
WDR7	23335	broad.mit.edu	37	chr18	54547218	54547218	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atgaaaaaaatttctacatcTtacgaggaaagacggaagca	19	8	8	6	2	2	2	0	1	2	1	2	5	2	4	0	2	3	1	0	2	7	3			TCGA-VN-A88Q-01A-11D-A34U-08	TCGA-VN-A88Q-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01ba16d8-9bb6-47e4-a32c-887197f7b36d	3d8fd88e-7661-4504-aa5b-a45bb03b8ee1	g.chr18:54547218T>C	ENST00000254442.3	+	21	3559	c.3348T>C	c.(3346-3348)tcT>tcC	p.S1116S	WDR7_ENST00000357574.3_Silent_p.S1083S|WDR7_ENST00000589935.1_Intron	NM_015285.2	NP_056100.2	Q9Y4E6	WDR7_HUMAN	WD repeat domain 7	1116					hematopoietic progenitor cell differentiation (GO:0002244)					NS(1)|breast(5)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(37)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	78				Lung(128;0.0238)|Colorectal(16;0.0296)		TTTCTACATCTTACGAGGAAA	0.363																																						ENST00000254442.3																			0				NS(1)|breast(5)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(37)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	78						c.(3346-3348)tcT>tcC		WD repeat domain 7							85	79	81					18																	54547218		2203	4300	6503	SO:0001819	synonymous_variant	23335							g.chr18:54547218T>C	AB011113	CCDS11962.1, CCDS11963.1	18q21.31	2013-01-09			ENSG00000091157	ENSG00000091157		"WD repeat domain containing"	13490	protein-coding gene	gene with protein product		613473				10828621	Standard	XM_005266674		Approved	KIAA0541, TRAG	uc002lgk.1	Q9Y4E6	OTTHUMG00000132721	ENST00000254442.3:c.3348T>C	18.37:g.54547218T>C						WDR7_ENST00000357574.3_Silent_p.S1083S|WDR7_ENST00000589935.1_Intron	p.S1116S	NM_015285.2	NP_056100.2	Q9Y4E6	WDR7_HUMAN		Lung(128;0.0238)|Colorectal(16;0.0296)	21	3559	+			1116					A7E2C8|Q86UX5|Q86VP2|Q96PS7	Silent	SNP	ENST00000254442.3	37	c.3348T>C	CCDS11962.1																																																																																				0.363	WDR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256062.1			19	38	0	0	0	1	0	19	38					C	54547218	T	C	54547218	2	2	406	1	0	0	0	0	0	0	0	1	17317	1596	56	4		4	WDR7	18	54547218	Silent	SNP	T	TCGA-VN-A88Q-01A-11D-A34U-08		54547218	23530030	46	19779											
MAG	4099	broad.mit.edu	37	chr19	35790572	35790572	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagctgagctggctgggccaCgaggggctgggggagcccgc	5	4	21	11	2	0	1	0	1	0	0	0	4	0	2	2	6	3	4	2	6	0	0			TCGA-VN-A88Q-01A-11D-A34U-08	TCGA-VN-A88Q-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01ba16d8-9bb6-47e4-a32c-887197f7b36d	3d8fd88e-7661-4504-aa5b-a45bb03b8ee1	g.chr19:35790572C>T	ENST00000392213.3	+	5	690	c.531C>T	c.(529-531)caC>caT	p.H177H	MAG_ENST00000361922.4_Silent_p.H177H|MAG_ENST00000537831.2_Silent_p.H152H|MAG_ENST00000597035.1_3'UTR	NM_002361.3	NP_002352.1	P20916	MAG_HUMAN	myelin associated glycoprotein	177	Ig-like C2-type 1.				blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|leukocyte migration (GO:0050900)|negative regulation of axonogenesis (GO:0050771)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of axonogenesis (GO:0050770)|substantia nigra development (GO:0021762)	integral component of membrane (GO:0016021)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|Schmidt-Lanterman incisure (GO:0043220)	carbohydrate binding (GO:0030246)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(11)|skin(2)|upper_aerodigestive_tract(2)	34	all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162)	Renal(1328;0.242)	Epithelial(14;3.14e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.5e-18)|all cancers(14;1.5e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)			GGCTGGGCCACGAGGGGCTGG	0.711																																						ENST00000361922.4																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(11)|skin(2)|upper_aerodigestive_tract(2)	34						c.(529-531)caC>caT		myelin associated glycoprotein																																				SO:0001819	synonymous_variant	4099				blood coagulation|cell adhesion|leukocyte migration|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway	integral to membrane|plasma membrane	sugar binding	g.chr19:35790572C>T	M29273	CCDS12455.1, CCDS12456.1, CCDS56090.1	19q13.1	2013-01-29			ENSG00000105695	ENSG00000105695		"Sialic acid binding Ig-like lectins", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6783	protein-coding gene	gene with protein product	"sialic acid binding Ig-like lectin 4A"	159460		GMA		2476987, 8432525	Standard	NM_080600		Approved	SIGLEC4A, SIGLEC-4A, S-MAG	uc002nyy.2	P20916		ENST00000392213.3:c.531C>T	19.37:g.35790572C>T						MAG_ENST00000392213.3_Silent_p.H177H|MAG_ENST00000537831.2_Silent_p.H152H|MAG_ENST00000597035.1_3'UTR	p.H177H	NM_080600.2	NP_542167.1	P20916	MAG_HUMAN	Epithelial(14;3.14e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.5e-18)|all cancers(14;1.5e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)		5	681	+	all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162)	Renal(1328;0.242)	177			Ig-like C2-type 1.		B7Z2E5|F5GYC0|Q567S4	Silent	SNP	ENST00000392213.3	37	c.531C>T	CCDS12455.1																																																																																				0.711	MAG-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000466071.1	NM_080600		5	11	0	0	0	1	0	5	11					T	35790572	C	T	35790572	2	4	406	1	0	0	0	0	0	0	0	1	9162	535	19	1		1	MAG	19	35790572	Silent	SNP	C	TCGA-VN-A88Q-01A-11D-A34U-08		35790572	23338411	47	19780											
ZSCAN4	201516	broad.mit.edu	37	chr19	58187585	58187585	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cttggatcagaaaattcagcGtttcaacaaagccaaggacc	15	8	8	10	1	3	1	3	0	0	1	3	3	3	3	2	2	3	1	2	2	5	3	rs367836558		TCGA-VN-A88Q-01A-11D-A34U-08	TCGA-VN-A88Q-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01ba16d8-9bb6-47e4-a32c-887197f7b36d	3d8fd88e-7661-4504-aa5b-a45bb03b8ee1	g.chr19:58187585G>A	ENST00000318203.5	+	3	769	c.72G>A	c.(70-72)gcG>gcA	p.A24A		NM_152677.2	NP_689890.1	Q8NAM6	ZSCA4_HUMAN	zinc finger and SCAN domain containing 4	24					telomere maintenance via telomere lengthening (GO:0010833)|transcription, DNA-templated (GO:0006351)	nuclear chromosome, telomeric region (GO:0000784)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|large_intestine(5)|liver(2)|lung(17)|ovary(1)|skin(1)|stomach(1)	30		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		AAAATTCAGCGTTTCAACAAA	0.373																																						ENST00000318203.5																			0				endometrium(3)|large_intestine(5)|liver(2)|lung(17)|ovary(1)|skin(1)|stomach(1)	30						c.(70-72)gcG>gcA		zinc finger and SCAN domain containing 4		G		0,4406		0,0,2203	78	76	77		72	-3.9	0	19		77	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	ZSCAN4	NM_152677.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		24/434	58187585	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	201516				telomere maintenance via telomere lengthening|viral reproduction	nuclear chromosome, telomeric region	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:58187585G>A	AK092424	CCDS12958.1	19q13.43	2013-01-08	2004-11-01	2004-11-02		ENSG00000180532		"-", "Zinc fingers, C2H2-type"	23709	protein-coding gene	gene with protein product		613419	"zinc finger protein 494"	ZNF494			Standard	NM_152677		Approved	FLJ35105	uc002qpu.3	Q8NAM6		ENST00000318203.5:c.72G>A	19.37:g.58187585G>A							p.A24A	NM_152677.2	NP_689890.1	Q8NAM6	ZSCA4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)	3	769	+		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)	24					Q3MIQ2	Silent	SNP	ENST00000318203.5	37	c.72G>A	CCDS12958.1																																																																																				0.373	ZSCAN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466812.1	NM_152677		43	63	0	0	0	1	0	43	63					A	58187585	G	A	58187585	2	1	406	1	0	0	0	0	0	0	0	1	18234	1132	40	1		1	ZSCAN4	19	58187585	Silent	SNP	G	TCGA-VN-A88Q-01A-11D-A34U-08	22397013	58187585	941398	48	19781											
CYTH4	27128	broad.mit.edu	37	chr22	37707052	37707052	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gccgcgtgaagacgtggaaaCggcgctggttcatcctgacc	8	7	14	12	5	1	3	1	2	0	1	2	4	2	4	3	3	1	2	3	3	2	1			TCGA-VN-A88Q-01A-11D-A34U-08	TCGA-VN-A88Q-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01ba16d8-9bb6-47e4-a32c-887197f7b36d	3d8fd88e-7661-4504-aa5b-a45bb03b8ee1	g.chr22:37707052C>T	ENST00000248901.6	+	10	1019	c.832C>T	c.(832-834)Cgg>Tgg	p.R278W		NM_013385.3	NP_037517.1	Q9UIA0	CYH4_HUMAN	cytohesin 4	278	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)|regulation of cell adhesion (GO:0030155)	plasma membrane (GO:0005886)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|lipid binding (GO:0008289)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|ovary(2)|stomach(1)	15						GACGTGGAAACGGCGCTGGTT	0.642																																						ENST00000248901.6																			0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|ovary(2)|stomach(1)	15						c.(832-834)Cgg>Tgg		cytohesin 4							170	138	149					22																	37707052		2203	4300	6503	SO:0001583	missense	27128				regulation of ARF protein signal transduction|regulation of cell adhesion	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity	g.chr22:37707052C>T	AF075458	CCDS13946.1	22q12.3-q13.1	2014-05-02	2008-08-14	2008-08-14	ENSG00000100055	ENSG00000100055		"Pleckstrin homology (PH) domain containing"	9505	protein-coding gene	gene with protein product		606514	"pleckstrin homology, Sec7 and coiled/coil domains 4", "pleckstrin homology, Sec7 and coiled-coil domains 4"	PSCD4		10591208	Standard	NM_013385		Approved	CYT4, cytohesin-4	uc003arf.3	Q9UIA0	OTTHUMG00000150562	ENST00000248901.6:c.832C>T	22.37:g.37707052C>T	ENSP00000248901:p.Arg278Trp						p.R278W	NM_013385.3	NP_037517.1	Q9UIA0	CYH4_HUMAN			10	1019	+			278			PH.		Q5R3F9|Q9UGT6	Missense_Mutation	SNP	ENST00000248901.6	37	c.832C>T	CCDS13946.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.8|20.8	4.052055|4.052055	0.75960|0.75960	.|.	.|.	ENSG00000100055|ENSG00000100055	ENST00000248901|ENST00000446506	T|.	0.21191|.	2.02|.	4.52|4.52	3.46|3.46	0.39613|0.39613	Pleckstrin homology-type (1);Pleckstrin homology domain (3);|.	0.055568|.	0.64402|.	D|.	0.000002|.	D|D	0.86414|0.86414	0.5927|0.5927	H|H	0.97315|0.97315	3.98|3.98	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.79108|.	0.992|.	D|D	0.88812|0.88812	0.3292|0.3292	10|5	0.87932|.	D|.	0|.	.|.	10.8674|10.8674	0.46864|0.46864	0.3419:0.6581:0.0:0.0|0.3419:0.6581:0.0:0.0	.|.	278|.	Q9UIA0|.	CYH4_HUMAN|.	W|M	278|30	ENSP00000248901:R278W|.	ENSP00000248901:R278W|.	R|T	+|+	1|2	2|0	CYTH4|CYTH4	36036998|36036998	0.963000|0.963000	0.33076|0.33076	0.980000|0.980000	0.43619|0.43619	0.997000|0.997000	0.91878|0.91878	1.564000|1.564000	0.36375|0.36375	0.948000|0.948000	0.37687|0.37687	0.655000|0.655000	0.94253|0.94253	CGG|ACG		0.642	CYTH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318917.1			24	94	0	0	0	1	0	24	94					T	37707052	C	T	37707052	3	4	406	1	0	0	0	0	1	0	0	0	4206	527	19	1	870	1	CYTH4	22	37707052	Missense_Mutation	SNP	C	TCGA-VN-A88Q-01A-11D-A34U-08		37707052	13597514	49	19782											
KDM5D	8284	broad.mit.edu	37	chrY	21871503	21871503	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gcccctgtgagcagaaggggCcagggcctgcttcacttcat	7	8	13	13	0	2	2	2	1	0	1	2	2	2	2	4	3	2	2	4	3	1	2			TCGA-VN-A88Q-01A-11D-A34U-08	TCGA-VN-A88Q-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01ba16d8-9bb6-47e4-a32c-887197f7b36d	3d8fd88e-7661-4504-aa5b-a45bb03b8ee1	g.chrY:21871503C>T	ENST00000317961.4	-	20	3047	c.2776G>A	c.(2776-2778)Gcc>Acc	p.A926T	KDM5D_ENST00000541639.1_Missense_Mutation_p.A957T|KDM5D_ENST00000382806.2_Missense_Mutation_p.A869T	NM_004653.4	NP_004644.2	Q9BY66	KDM5D_HUMAN	lysine (K)-specific demethylase 5D	926					histone H3-K4 demethylation (GO:0034720)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone demethylase activity (H3-K4 specific) (GO:0032453)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|zinc ion binding (GO:0008270)			kidney(1)|large_intestine(9)|lung(6)|skin(1)	17					Vitamin C(DB00126)	GCAGAAGGGGCCAGGGCCTGC	0.612																																						ENST00000541639.1																			0				kidney(1)|large_intestine(9)|lung(6)|skin(1)	17						c.(2869-2871)Gcc>Acc		lysine (K)-specific demethylase 5D	Vitamin C(DB00126)																																			SO:0001583	missense	8284				chromatin modification|spermatogenesis	nucleus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding	g.chrY:21871503C>T	U52191	CCDS14794.1, CCDS55554.1, CCDS55555.1	Yq11	2013-01-28	2009-04-06	2009-04-06	ENSG00000012817	ENSG00000012817		"Chromatin-modifying enzymes / K-demethylases", "Zinc fingers, PHD-type"	11115	protein-coding gene	gene with protein product		426000	"Jumonji, AT rich interactive domain 1D (RBP2-like)", "Smcy homolog, Y-linked (mouse)", "jumonji, AT rich interactive domain 1D"	HYA, HY, SMCY, JARID1D		795123, 8841177	Standard	NM_001146705		Approved	KIAA0234	uc011naz.2	Q9BY66	OTTHUMG00000036508	ENST00000317961.4:c.2776G>A	Y.37:g.21871503C>T	ENSP00000322408:p.Ala926Thr					KDM5D_ENST00000317961.4_Missense_Mutation_p.A926T|KDM5D_ENST00000382806.2_Missense_Mutation_p.A869T	p.A957T	NM_001146705.1	NP_001140177.1	Q9BY66	KDM5D_HUMAN			21	3156	-			926					A2RU19|A6H8V7|B7ZLX1|Q92509|Q92809|Q9HCU1	Missense_Mutation	SNP	ENST00000317961.4	37	c.2869G>A	CCDS14794.1																																																																																				0.612	KDM5D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088790.1	NM_004653		9	9	0	0	0	1	0	9	9					T	21871503	C	T	21871503	3	4	406	1	0	0	0	0	1	0	0	0	8136	739	26	3	1875	3	KDM5D	24	21871503	Missense_Mutation	SNP	C	TCGA-VN-A88Q-01A-11D-A34U-08		21871503	37502063	50	19783											
GPR37L1	9283	broad.mit.edu	37	chr1	202092723	202092723	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgccgtgcccttcatggaggTgagtgtgtgttctgtttgag	4	15	15	7	1	2	2	1	2	1	0	2	3	2	3	2	2	2	2	2	2	0	3			TCGA-VN-A88R-01A-11D-A364-08	TCGA-VN-A88R-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d624f520-0cf2-479f-a434-493117b54ed0	f3aa6d62-dfca-43e4-8c16-a07c4a3ad3e9	g.chr1:202092723T>C	ENST00000367282.5	+	1	736		c.e1+2			NM_004767.3	NP_004758.3	O60883	ETBR2_HUMAN	G protein-coupled receptor 37 like 1						negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of smoothened signaling pathway (GO:0045879)|positive regulation of cerebellar granule cell precursor proliferation (GO:0021940)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)	18						TTCATGGAGGTGAGTGTGTGT	0.512																																						ENST00000367282.4																			0				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)	18						c.e1+2		G protein-coupled receptor 37 like 1							91	89	90					1																	202092723		2199	4297	6496	SO:0001630	splice_region_variant	9283					integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding	g.chr1:202092723T>C	AJ310210	CCDS1420.1	1q32	2012-08-21	2006-02-15		ENSG00000170075	ENSG00000170075		"GPCR / Class A : Orphans"	14923	protein-coding gene	gene with protein product						9539149	Standard	NM_004767		Approved	ETBR-LP-2	uc001gxj.3	O60883	OTTHUMG00000035924	ENST00000367282.5:c.630+2T>C	1.37:g.202092723T>C								NM_004767.3	NP_004758.3	O60883	ETBR2_HUMAN			1	736	+								B2R7M9|Q5SXP7|Q86VP7	Splice_Site	SNP	ENST00000367282.5	37		CCDS1420.1	.	.	.	.	.	.	.	.	.	.	T	17.75	3.467237	0.63625	.	.	ENSG00000170075	ENST00000541334;ENST00000367282	.	.	.	4.77	4.77	0.60923	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.2861	0.66247	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	GPR37L1	200359346	1.000000	0.71417	1.000000	0.80357	0.811000	0.45836	6.293000	0.72731	1.765000	0.52091	0.260000	0.18958	.		0.512	GPR37L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087496.2	NM_004767	Intron	17	28	0	0	0	1	0	17	28					C	202092723	T	C	202092723	5	2	407	1	0	0	0	0	0	0	1	0	6692	1710	59	4	634	4	GPR37L1	1	202092723	Splice_Site	SNP	T	TCGA-VN-A88R-01A-11D-A364-08		202092723	47157898	1	19784											
CEP170	9859	broad.mit.edu	37	chr1	243362462	243362462	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccccaccatgacggctgcccAtataatggagtaccacgggg	10	6	11	14	2	0	1	0	1	0	0	0	2	0	2	5	4	2	2	5	4	3	3			TCGA-VN-A88R-01A-11D-A364-08	TCGA-VN-A88R-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d624f520-0cf2-479f-a434-493117b54ed0	f3aa6d62-dfca-43e4-8c16-a07c4a3ad3e9	g.chr1:243362462A>G	ENST00000366542.1	-	7	582	c.531T>C	c.(529-531)taT>taC	p.Y177Y	CEP170_ENST00000366543.1_Silent_p.Y177Y|CEP170_ENST00000366544.1_Silent_p.Y177Y	NM_014812.2	NP_055627.2	Q5SW79	CE170_HUMAN	centrosomal protein 170kDa	177						centriole (GO:0005814)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|nuclear membrane (GO:0031965)				NS(1)|breast(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	62	all_neural(11;0.101)	all_cancers(173;0.003)	all cancers(7;5.81e-06)|GBM - Glioblastoma multiforme(7;0.000443)|OV - Ovarian serous cystadenocarcinoma(106;0.0101)			ACGGCTGCCCATATAATGGAG	0.428																																						ENST00000366542.1																			0				NS(1)|breast(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	62						c.(529-531)taT>taC		centrosomal protein 170kDa							49	44	45					1																	243362462		1818	4079	5897	SO:0001819	synonymous_variant	9859					centriole|microtubule|spindle		g.chr1:243362462A>G	AB022657	CCDS44337.1, CCDS44338.1, CCDS44339.1	1q44	2014-02-20	2006-01-12	2006-01-12	ENSG00000143702	ENSG00000143702			28920	protein-coding gene	gene with protein product	"KARP 1 binding protein", "XRCC5 binding protein"	613023	"KIAA0470"	KIAA0470		15616186	Standard	NM_014812		Approved	KAB, FAM68A	uc021plo.1	Q5SW79	OTTHUMG00000039862	ENST00000366542.1:c.531T>C	1.37:g.243362462A>G						CEP170_ENST00000366544.1_Silent_p.Y177Y|CEP170_ENST00000366543.1_Silent_p.Y177Y	p.Y177Y	NM_014812.2	NP_055627.2	Q5SW79	CE170_HUMAN	all cancers(7;5.81e-06)|GBM - Glioblastoma multiforme(7;0.000443)|OV - Ovarian serous cystadenocarcinoma(106;0.0101)		7	582	-	all_neural(11;0.101)	all_cancers(173;0.003)	177					O75058|Q5SW77|Q5SW78|Q7LGA9|Q86W31|Q9UQ08|Q9UQ09	Silent	SNP	ENST00000366542.1	37	c.531T>C	CCDS44339.1	.	.	.	.	.	.	.	.	.	.	A	8.872	0.949639	0.18431	.	.	ENSG00000143702	ENST00000336415	.	.	.	5.05	-0.0286	0.13921	.	.	.	.	.	T	0.55401	0.1918	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.46219	-0.9207	4	.	.	.	-11.2018	9.1995	0.37249	0.7151:0.0:0.2849:0.0	.	.	.	.	T	79	.	.	M	-	2	0	CEP170	241429085	1.000000	0.71417	0.982000	0.44146	0.911000	0.54048	1.803000	0.38863	-0.266000	0.09339	-0.475000	0.04921	ATG		0.428	CEP170-003	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096178.2	NM_014812		3	20	0	0	0	1	0	3	20					G	243362462	A	G	243362462	2	3	407	1	0	0	0	0	0	0	0	1	3250	224	8	4		4	CEP170	1	243362462	Silent	SNP	A	TCGA-VN-A88R-01A-11D-A364-08	41269739	243362462	5888159	2	19785											
GPAT2	150763	broad.mit.edu	37	chr2	96689180	96689180	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgtcacaggctggccgggaGcctggggtctaggggccgtg	4	7	20	10	2	2	0	1	0	1	0	2	1	2	1	3	7	1	1	3	7	1	1			TCGA-VN-A88R-01A-11D-A364-08	TCGA-VN-A88R-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d624f520-0cf2-479f-a434-493117b54ed0	f3aa6d62-dfca-43e4-8c16-a07c4a3ad3e9	g.chr2:96689180G>A	ENST00000434632.1	-	19	2364	c.1905C>T	c.(1903-1905)ggC>ggT	p.G635G	FAHD2CP_ENST00000607780.1_RNA|GPAT2_ENST00000453542.1_Silent_p.G564G|GPAT2_ENST00000359548.4_Silent_p.G635G|GPAT2_ENST00000377137.3_Intron			Q6NUI2	GPAT2_HUMAN	glycerol-3-phosphate acyltransferase 2, mitochondrial	635					CDP-diacylglycerol biosynthetic process (GO:0016024)|glycerol-3-phosphate metabolic process (GO:0006072)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidic acid biosynthetic process (GO:0006654)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	glycerol-3-phosphate O-acyltransferase activity (GO:0004366)			NS(1)|breast(1)|cervix(1)|endometrium(4)|large_intestine(1)|lung(5)|skin(3)	16						CTGGCCGGGAGCCTGGGGTCT	0.567																																						ENST00000434632.1																			0				NS(1)|breast(1)|cervix(1)|endometrium(4)|large_intestine(1)|lung(5)|skin(3)	16						c.(1903-1905)ggC>ggT		glycerol-3-phosphate acyltransferase 2, mitochondrial							38	35	36					2																	96689180		1986	4161	6147	SO:0001819	synonymous_variant	150763				glycerol-3-phosphate metabolic process|phospholipid biosynthetic process|triglyceride biosynthetic process	integral to membrane|mitochondrial outer membrane	glycerol-3-phosphate O-acyltransferase activity	g.chr2:96689180G>A	BC042847	CCDS42714.1	2q11.2	2010-05-04			ENSG00000186281	ENSG00000186281			27168	protein-coding gene	gene with protein product	"cancer/testis antigen 123"					12477932	Standard	NM_207328		Approved	CT123	uc010yuf.1	Q6NUI2	OTTHUMG00000155208	ENST00000434632.1:c.1905C>T	2.37:g.96689180G>A						GPAT2_ENST00000359548.4_Silent_p.G635G|GPAT2_ENST00000377137.3_Intron|GPAT2_ENST00000453542.1_Silent_p.G564G	p.G635G			Q6NUI2	GPAT2_HUMAN			19	2364	-			635					Q6P2E4|Q6ZNI3|Q6ZNI5|Q6ZWJ4	Silent	SNP	ENST00000434632.1	37	c.1905C>T	CCDS42714.1																																																																																				0.567	GPAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338786.1	NM_207328		6	38	0	0	0	1	0	6	38					A	96689180	G	A	96689180	2	1	407	1	0	0	0	0	0	0	0	1	6589	958	34	3		3	GPAT2	2	96689180	Silent	SNP	G	TCGA-VN-A88R-01A-11D-A364-08		96689180	146510193	3	19786											
IL1F8	27177	broad.mit.edu	37	chr2	113783764	113783764	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcatgtgtgaattccaactaGtttccagcaagtgtccttcc	9	13	8	11	0	0	1	0	1	0	0	4	1	4	1	4	0	2	3	4	0	4	4			TCGA-VN-A88R-01A-11D-A364-08	TCGA-VN-A88R-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d624f520-0cf2-479f-a434-493117b54ed0	f3aa6d62-dfca-43e4-8c16-a07c4a3ad3e9	g.chr2:113783764G>T	ENST00000259213.4	-	5	414	c.307C>A	c.(307-309)Cta>Ata	p.L103I		NM_014438.3	NP_055253.2	Q9NZH7	IL36B_HUMAN	interleukin 36, beta	103					immune response (GO:0006955)|inflammatory response (GO:0006954)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of T cell differentiation (GO:0045582)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	interleukin-1 receptor binding (GO:0005149)			kidney(1)|ovary(1)|pancreas(1)	3						attccaactagtttccagcaa	0.463																																						ENST00000259213.4																			0				kidney(1)|ovary(1)|pancreas(1)	3						c.(307-309)Cta>Ata		interleukin 36, beta							184	157	166					2																	113783764		2203	4300	6503	SO:0001583	missense	27177				immune response	extracellular space	cytokine activity|interleukin-1 receptor binding	g.chr2:113783764G>T	AF201833	CCDS2109.1, CCDS2110.1	2q14	2011-07-14	2011-06-06	2011-06-06	ENSG00000136696	ENSG00000136696		"Interleukins and interleukin receptors"	15564	protein-coding gene	gene with protein product		605508	"interleukin 1 family, member 8 (eta)"	IL1F8		10625660, 10512743, 16646978	Standard	NM_173178		Approved	FIL1, IL-1H2, IL-1F8, FILI-(ETA), IL1-ETA, IL1H2, MGC126880, MGC126882	uc002tiq.1	Q9NZH7	OTTHUMG00000131338	ENST00000259213.4:c.307C>A	2.37:g.113783764G>T	ENSP00000259213:p.Leu103Ile						p.L103I	NM_014438.3	NP_055253.2	Q9NZH7	IL36B_HUMAN			5	414	-			103					Q3MIH0|Q53SR6|Q7RTZ7|Q9UHA5	Missense_Mutation	SNP	ENST00000259213.4	37	c.307C>A	CCDS2109.1	.	.	.	.	.	.	.	.	.	.	g	9.029	0.986828	0.18889	.	.	ENSG00000136696	ENST00000259213	T	0.19938	2.11	2.41	-2.29	0.06805	.	267.030000	0.00166	N	0.000002	T	0.13030	0.0316	N	0.22421	0.69	0.09310	N	1	B	0.12630	0.006	B	0.15052	0.012	T	0.24261	-1.0165	10	0.62326	D	0.03	.	0.4714	0.00532	0.3023:0.2507:0.2746:0.1723	.	103	Q9NZH7	IL36B_HUMAN	I	103	ENSP00000259213:L103I	ENSP00000259213:L103I	L	-	1	2	IL36B	113500235	0.000000	0.05858	0.000000	0.03702	0.061000	0.15899	-0.596000	0.05720	-0.558000	0.06118	-0.318000	0.08688	CTA		0.463	IL36B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254110.1	NM_014438		18	29	1	0	8.34094e-07	1	8.7918e-07	18	29					T	113783764	G	T	113783764	3	4	407	1	0	0	0	0	1	0	0	0	7656	1020	36	5	195	5	IL1F8	2	113783764	Missense_Mutation	SNP	G	TCGA-VN-A88R-01A-11D-A364-08	17094584	113783764	129415609	4	19787											
ZNF167	55888	broad.mit.edu	37	chr3	44611916	44611916	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acccacacaggggaaaaaccCtatgaatgcagtgagtgtgg	14	6	12	9	0	0	2	0	2	0	0	0	3	0	3	2	3	2	1	2	3	4	1			TCGA-VN-A88R-01A-11D-A364-08	TCGA-VN-A88R-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d624f520-0cf2-479f-a434-493117b54ed0	f3aa6d62-dfca-43e4-8c16-a07c4a3ad3e9	g.chr3:44611916C>G	ENST00000273320.3	+	6	1743	c.1314C>G	c.(1312-1314)ccC>ccG	p.P438P	ZKSCAN7_ENST00000426540.1_Silent_p.P438P|RP11-944L7.4_ENST00000457331.1_RNA|ZKSCAN7_ENST00000341840.3_Intron|RP11-944L7.5_ENST00000419137.1_Intron|ZKSCAN7_ENST00000431636.1_Intron	NM_018651.2	NP_061121.2	Q9P0L1	ZKSC7_HUMAN	zinc finger with KRAB and SCAN domains 7	438					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.P438P(1)									GGGAAAAACCCTATGAATGCA	0.463																																						ENST00000273320.3																			1	Substitution - coding silent(1)	p.P438P(1)	large_intestine(1)								c.(1312-1314)ccC>ccG		zinc finger with KRAB and SCAN domains 7							39	41	40					3																	44611916		2203	4299	6502	SO:0001819	synonymous_variant	55888							g.chr3:44611916C>G	L32164, AY280798	CCDS2714.1, CCDS2715.1, CCDS74924.1	3p21.32	2013-01-09	2013-01-09	2013-01-09	ENSG00000196345	ENSG00000196345		"Zinc fingers, C2H2-type", "-", "-", "-"	12955	protein-coding gene	gene with protein product			"zinc finger protein 64", "zinc finger protein 448", "zinc finger protein 167"	ZNF64, ZNF448, ZNF167		7814019, 1505991	Standard	XM_005265323		Approved	FLJ12738, ZSCAN39	uc003cnj.3	Q9P0L1	OTTHUMG00000133094	ENST00000273320.3:c.1314C>G	3.37:g.44611916C>G						RP11-944L7.4_ENST00000457331.1_RNA|ZKSCAN7_ENST00000431636.1_Intron|ZKSCAN7_ENST00000341840.3_Intron|ZKSCAN7_ENST00000426540.1_Silent_p.P438P	p.P438P	NM_018651.2	NP_061121.2					6	1743	+								A0PJV3|A8K5H0|Q6WL09|Q96FQ2	Silent	SNP	ENST00000273320.3	37	c.1314C>G	CCDS2715.1																																																																																				0.463	ZKSCAN7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256752.4	NM_018651		8	13	0	0	0	1	0	8	13					G	44611916	C	G	44611916	2	3	407	1	0	0	0	0	0	0	0	1	17738	668	24	5		5	ZNF167	3	44611916	Silent	SNP	C	TCGA-VN-A88R-01A-11D-A364-08		44611916	153410514	5	19788											
RRP9	9136	broad.mit.edu	37	chr3	51972181	51972183	+	In_Frame_Del	DEL	CTC	CTC	-																															tcctgtgcagtttcctccagCtcctcctcctcctcctcctc																								rs148178643		TCGA-VN-A88R-01A-11D-A364-08	TCGA-VN-A88R-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d624f520-0cf2-479f-a434-493117b54ed0	f3aa6d62-dfca-43e4-8c16-a07c4a3ad3e9	g.chr3:51972181_51972183delCTC	ENST00000232888.6	-	3	281_283	c.208_210delGAG	c.(208-210)gagdel	p.E70del		NM_004704.3	NP_004695.1	O43818	U3IP2_HUMAN	ribosomal RNA processing 9, small subunit (SSU) processome component, homolog (yeast)	70	Glu-rich.				rRNA processing (GO:0006364)	nucleus (GO:0005634)|small nuclear ribonucleoprotein complex (GO:0030532)|small nucleolar ribonucleoprotein complex (GO:0005732)	poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(1)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|ovary(1)|skin(1)	21				BRCA - Breast invasive adenocarcinoma(193;8.04e-05)|Kidney(197;0.000553)|KIRC - Kidney renal clear cell carcinoma(197;0.000724)		TTtcctccagctcctcctcctcc	0.616																																						ENST00000232888.6																			0				breast(3)|endometrium(1)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|ovary(1)|skin(1)	21						c.(208-210)del		ribosomal RNA processing 9, small subunit (SSU) processome component, homolog (yeast)				5,58,4195		1,0,3,0,58,2067						5.3	1		dbSNP_134	55	8,157,8071		0,0,8,0,157,3953	no	codingComplex	RRP9	NM_004704.3		1,0,11,0,215,6020	A1A1,A1A2,A1R,A2A2,A2R,RR		2.0034,1.4796,1.8249				13,215,12266				SO:0001651	inframe_deletion	9136				rRNA processing	nucleolus|small nuclear ribonucleoprotein complex|small nucleolar ribonucleoprotein complex	RNA binding	g.chr3:51972181_51972183delCTC	AJ001340	CCDS2837.1	3p21.31	2013-01-10	2008-02-26	2006-10-24	ENSG00000114767	ENSG00000114767		"WD repeat domain containing"	16829	protein-coding gene	gene with protein product			"RNA, U3 small nucleolar interacting protein 2"	RNU3IP2		9418896, 12032086	Standard	NM_004704		Approved	U3-55K	uc003dbw.2	O43818	OTTHUMG00000156930	ENST00000232888.6:c.208_210delGAG	3.37:g.51972190_51972192delCTC	ENSP00000232888:p.Glu70del						p.E70del	NM_004704.3	NP_004695.1	O43818	U3IP2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.04e-05)|Kidney(197;0.000553)|KIRC - Kidney renal clear cell carcinoma(197;0.000724)	3	281_283	-			70			Glu-rich.		B2R996|Q8IZ30	In_Frame_Del	DEL	ENST00000232888.6	37	c.208_210delGAG	CCDS2837.1																																																																																				0.616	RRP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346637.1	NM_004704		2	4						2	4	---	---	---	---	-	51972183	CTC	-	51972181	7	5	407	1	0	1	0	1	0	0	0	0	13691	796	28	0	1269	0	RRP9	3	51972181	In_Frame_Del	DEL	CTC	TCGA-VN-A88R-01A-11D-A364-08	7360265	51972181	146050249	6	19789											
ZNF713	349075	broad.mit.edu	37	chr7	56007346	56007346	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaaagccttccgtcagcatTcatcctttactcaacatctg	10	12	6	13	1	4	0	3	0	1	0	6	1	6	1	3	1	4	1	3	1	3	4			TCGA-VN-A88R-01A-11D-A364-08	TCGA-VN-A88R-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d624f520-0cf2-479f-a434-493117b54ed0	f3aa6d62-dfca-43e4-8c16-a07c4a3ad3e9	g.chr7:56007346T>G	ENST00000429591.2	+	4	978	c.940T>G	c.(940-942)Tca>Gca	p.S314A	MRPS17_ENST00000426595.1_Intron	NM_182633.1	NP_872439.1	Q8N859	ZN713_HUMAN	zinc finger protein 713	314					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	25	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			CCGTCAGCATTCATCCTTTAC	0.403																																						ENST00000429591.2																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	25						c.(940-942)Tca>Gca		zinc finger protein 713							95	101	99					7																	56007346		2203	4300	6503	SO:0001583	missense	349075				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:56007346T>G	AK097282	CCDS34639.1	7p11.2	2013-01-08			ENSG00000178665	ENSG00000178665		"Zinc fingers, C2H2-type", "-"	22043	protein-coding gene	gene with protein product							Standard	NM_182633		Approved	FLJ39963	uc003trc.1	Q8N859	OTTHUMG00000156175	ENST00000429591.2:c.940T>G	7.37:g.56007346T>G	ENSP00000416662:p.Ser314Ala					MRPS17_ENST00000426595.1_Intron	p.S314A	NM_182633.1	NP_872439.1	Q8N859	ZN713_HUMAN	Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)		4	978	+	Breast(14;0.214)		314						Missense_Mutation	SNP	ENST00000429591.2	37	c.940T>G	CCDS34639.1	.	.	.	.	.	.	.	.	.	.	T	8.144	0.785937	0.16189	.	.	ENSG00000178665	ENST00000429591	T	0.35605	1.3	3.26	3.26	0.37387	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.32852	N	0.005576	T	0.25938	0.0632	L	0.45470	1.425	0.09310	N	1	P	0.43788	0.817	B	0.39339	0.297	T	0.11324	-1.0592	10	0.33141	T	0.24	.	5.2223	0.15375	0.0:0.1296:0.0:0.8704	.	314	Q8N859	ZN713_HUMAN	A	314	ENSP00000416662:S314A	ENSP00000416662:S314A	S	+	1	0	ZNF713	55974840	0.008000	0.16893	1.000000	0.80357	0.469000	0.32828	1.288000	0.33296	1.731000	0.51592	0.383000	0.25322	TCA		0.403	ZNF713-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343297.1	NM_182633		40	62	0	0	0	1	0	40	62					G	56007346	T	G	56007346	3	3	407	1	0	0	0	0	1	0	0	0	18114	1783	62	5	954	5	ZNF713	7	56007346	Missense_Mutation	SNP	T	TCGA-VN-A88R-01A-11D-A364-08		56007346	103131317	7	19790											
RP1	6101	broad.mit.edu	37	chr8	55537905	55537905	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acagttttcatatagtgaagAaagggaaagtggggaaaaca	18	8	12	3	0	1	2	1	1	0	1	1	4	1	4	0	3	1	1	0	3	7	4			TCGA-VN-A88R-01A-11D-A364-08	TCGA-VN-A88R-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d624f520-0cf2-479f-a434-493117b54ed0	f3aa6d62-dfca-43e4-8c16-a07c4a3ad3e9	g.chr8:55537905A>C	ENST00000220676.1	+	4	1611	c.1463A>C	c.(1462-1464)gAa>gCa	p.E488A		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	488					axoneme assembly (GO:0035082)|cellular response to light stimulus (GO:0071482)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|photoreceptor cell outer segment organization (GO:0035845)|phototransduction, visible light (GO:0007603)|retinal cone cell development (GO:0046549)|retinal rod cell development (GO:0046548)|visual perception (GO:0007601)	axoneme (GO:0005930)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)	microtubule binding (GO:0008017)			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			TATAGTGAAGAAAGGGAAAGT	0.363																																					Colon(91;1014 1389 7634 14542 40420)	ENST00000220676.1																			0				NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169						c.(1462-1464)gAa>gCa		retinitis pigmentosa 1 (autosomal dominant)							74	73	73					8																	55537905		2203	4300	6503	SO:0001583	missense	6101				axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding	g.chr8:55537905A>C	AF146592	CCDS6160.1	8q12.1	2013-01-08				ENSG00000104237			10263	protein-coding gene	gene with protein product		603937				1783394	Standard	NM_006269		Approved	DCDC4A	uc003xsd.1	P56715		ENST00000220676.1:c.1463A>C	8.37:g.55537905A>C	ENSP00000220676:p.Glu488Ala						p.E488A	NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)		4	1611	+		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	488						Missense_Mutation	SNP	ENST00000220676.1	37	c.1463A>C	CCDS6160.1	.	.	.	.	.	.	.	.	.	.	A	11.23	1.576775	0.28092	.	.	ENSG00000104237	ENST00000220676	T	0.35973	1.28	5.39	2.98	0.34508	.	0.311825	0.27705	N	0.018195	T	0.20659	0.0497	N	0.20986	0.625	0.33231	D	0.555984	B	0.24533	0.105	B	0.22880	0.042	T	0.14008	-1.0488	10	0.54805	T	0.06	.	3.5997	0.08020	0.6574:0.1389:0.0708:0.1329	.	488	P56715	RP1_HUMAN	A	488	ENSP00000220676:E488A	ENSP00000220676:E488A	E	+	2	0	RP1	55700458	1.000000	0.71417	0.997000	0.53966	0.960000	0.62799	1.907000	0.39897	0.352000	0.24053	0.533000	0.62120	GAA		0.363	RP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378532.2	NM_006269		16	28	0	0	0	1	0	16	28					C	55537905	A	C	55537905	3	2	407	1	0	0	0	0	1	0	0	0	13532	246	9	5	1473	5	RP1	8	55537905	Missense_Mutation	SNP	A	TCGA-VN-A88R-01A-11D-A364-08		55537905	90826117	8	19791											
CDH23	64072	broad.mit.edu	37	chr10	73558936	73558936	+	Missense_Mutation	SNP	T	T	C																															tcaactttaccgtgagggccTcagacaacgggtccccgccc																										TCGA-VN-A88R-01A-11D-A364-08	TCGA-VN-A88R-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d624f520-0cf2-479f-a434-493117b54ed0	f3aa6d62-dfca-43e4-8c16-a07c4a3ad3e9	g.chr10:73558936T>C	ENST00000224721.6	+	50	7143	c.7138T>C	c.(7138-7140)Tca>Cca	p.S2380P	CDH23_ENST00000475158.1_3'UTR|CDH23_ENST00000398788.3_Missense_Mutation_p.S135P	NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	2375	Cadherin 22. {ECO:0000255|PROSITE- ProRule:PRU00043}.		P -> L (in dbSNP:rs4747195). {ECO:0000269|PubMed:11138009, ECO:0000269|PubMed:12075507, ECO:0000269|PubMed:12522556, ECO:0000269|PubMed:18429043, ECO:0000269|PubMed:24767429}.		calcium ion transport (GO:0006816)|calcium-dependent cell-cell adhesion (GO:0016339)|cytosolic calcium ion homeostasis (GO:0051480)|equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						CGTGAGGGCCTCAGACAACGG	0.572																																						ENST00000224721.6																			0				NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						c.(7138-7140)Tca>Cca		cadherin-related 23							82	93	89					10																	73558936		2024	4167	6191	SO:0001583	missense	64072				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding	g.chr10:73558936T>C	AY010111	CCDS53540.1, CCDS73146.1	10q22.1	2014-08-08	2010-01-25		ENSG00000107736	ENSG00000107736		"Cadherins / Cadherin-related"	13733	protein-coding gene	gene with protein product	"cadherin-related family member 23"	605516	"cadherin related 23", "cadherin-like 23"	DFNB12, USH1D		11090341	Standard	NM_022124		Approved	CDHR23	uc001jrx.4	Q9H251	OTTHUMG00000019347	ENST00000224721.6:c.7138T>C	10.37:g.73558936T>C	ENSP00000224721:p.Ser2380Pro					CDH23_ENST00000398788.3_Missense_Mutation_p.S135P|CDH23_ENST00000475158.1_3'UTR	p.S2380P	NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN			50	7143	+			2375		P -> L (in dbSNP:rs4747195).	Cadherin 22.		C4IXS9|F6U049|Q5QGS1|Q5QGS2|Q5QGS5|Q5QGS6|Q5XKN2|Q6UWW1|Q96JL3|Q9H4K9	Missense_Mutation	SNP	ENST00000224721.6	37	c.7138T>C		.	.	.	.	.	.	.	.	.	.	T	19.43	3.826662	0.71143	.	.	ENSG00000107736	ENST00000398860;ENST00000398855;ENST00000224721;ENST00000398788	T	0.01854	4.6	5.55	4.36	0.52297	Cadherin (4);Cadherin-like (1);	0.345797	0.28268	N	0.015966	T	0.08179	0.0204	M	0.86420	2.815	0.45452	D	0.998428	B;P	0.36222	0.254;0.544	B;B	0.43680	0.311;0.427	T	0.03898	-1.0994	10	0.36615	T	0.2	.	13.9003	0.63799	0.0:0.0:0.1352:0.8648	.	2375;2375	E9PEX1;Q9H251	.;CAD23_HUMAN	P	2380;2375;2378;135	ENSP00000381768:S135P	ENSP00000224721:S2380P	S	+	1	0	CDH23	73228942	1.000000	0.71417	1.000000	0.80357	0.817000	0.46193	3.125000	0.50469	2.119000	0.64992	0.533000	0.62120	TCA		0.572	CDH23-001	PUTATIVE	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000051227.4	NM_052836		15	18	0	0	0	1	0	15	18					C	73558936	T	C	73558936	3	2	407	1	0	0	0	0	1	0	0	0	3108	1551	54	4	7666	4	CDH23	10	73558936	Missense_Mutation	SNP	T	TCGA-VN-A88R-01A-11D-A364-08		73558936	61975811	9	19792	101	2									
CDH23	64072	broad.mit.edu	37	chr10	73558937	73558937	+	Nonsense_Mutation	SNP	C	C	A																															caactttaccgtgagggcctCagacaacgggtccccgcccc																										TCGA-VN-A88R-01A-11D-A364-08	TCGA-VN-A88R-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d624f520-0cf2-479f-a434-493117b54ed0	f3aa6d62-dfca-43e4-8c16-a07c4a3ad3e9	g.chr10:73558937C>A	ENST00000224721.6	+	50	7144	c.7139C>A	c.(7138-7140)tCa>tAa	p.S2380*	CDH23_ENST00000475158.1_3'UTR|CDH23_ENST00000398788.3_Nonsense_Mutation_p.S135*	NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	2375	Cadherin 22. {ECO:0000255|PROSITE- ProRule:PRU00043}.		P -> L (in dbSNP:rs4747195). {ECO:0000269|PubMed:11138009, ECO:0000269|PubMed:12075507, ECO:0000269|PubMed:12522556, ECO:0000269|PubMed:18429043, ECO:0000269|PubMed:24767429}.		calcium ion transport (GO:0006816)|calcium-dependent cell-cell adhesion (GO:0016339)|cytosolic calcium ion homeostasis (GO:0051480)|equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						GTGAGGGCCTCAGACAACGGG	0.572																																						ENST00000224721.6																			0				NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						c.(7138-7140)tCa>tAa		cadherin-related 23							81	92	88					10																	73558937		2024	4166	6190	SO:0001587	stop_gained	64072				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding	g.chr10:73558937C>A	AY010111	CCDS53540.1, CCDS73146.1	10q22.1	2014-08-08	2010-01-25		ENSG00000107736	ENSG00000107736		"Cadherins / Cadherin-related"	13733	protein-coding gene	gene with protein product	"cadherin-related family member 23"	605516	"cadherin related 23", "cadherin-like 23"	DFNB12, USH1D		11090341	Standard	NM_022124		Approved	CDHR23	uc001jrx.4	Q9H251	OTTHUMG00000019347	ENST00000224721.6:c.7139C>A	10.37:g.73558937C>A	ENSP00000224721:p.Ser2380*					CDH23_ENST00000398788.3_Nonsense_Mutation_p.S135*|CDH23_ENST00000475158.1_3'UTR	p.S2380*	NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN			50	7144	+			2375		P -> L (in dbSNP:rs4747195).	Cadherin 22.		C4IXS9|F6U049|Q5QGS1|Q5QGS2|Q5QGS5|Q5QGS6|Q5XKN2|Q6UWW1|Q96JL3|Q9H4K9	Nonsense_Mutation	SNP	ENST00000224721.6	37	c.7139C>A		.	.	.	.	.	.	.	.	.	.	C	38	7.269800	0.98175	.	.	ENSG00000107736	ENST00000398860;ENST00000398855;ENST00000224721;ENST00000398788	.	.	.	5.55	5.55	0.83447	.	0.345797	0.28268	N	0.015966	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.11182	T	0.66	.	19.516	0.95165	0.0:1.0:0.0:0.0	.	.	.	.	X	2380;2375;2378;135	.	ENSP00000224721:S2380X	S	+	2	0	CDH23	73228943	1.000000	0.71417	0.994000	0.49952	0.766000	0.43426	4.192000	0.58378	2.623000	0.88846	0.655000	0.94253	TCA		0.572	CDH23-001	PUTATIVE	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000051227.4	NM_052836		15	18	1	0	4.7546e-09	1	5.15082e-09	15	18					A	73558937	C	A	73558937	4	1	407	1	0	0	0	0	0	1	0	0	3108	838	29	5	7667	5	CDH23	10	73558937	Nonsense_Mutation	SNP	C	TCGA-VN-A88R-01A-11D-A364-08	1	73558937	61975810	10	19793	101	2									
BMPR1A	657	broad.mit.edu	37	chr10	88676986	88676986	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggcaaatggcgtggcgaaaaAgtggcggtgaaagtattctt	12	9	15	5	3	1	1	0	1	1	0	1	2	1	1	0	5	0	2	0	5	5	3			TCGA-VN-A88R-01A-11D-A364-08	TCGA-VN-A88R-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d624f520-0cf2-479f-a434-493117b54ed0	f3aa6d62-dfca-43e4-8c16-a07c4a3ad3e9	g.chr10:88676986A>T	ENST00000372037.3	+	9	1308	c.771A>T	c.(769-771)aaA>aaT	p.K257N		NM_004329.2	NP_004320.2	P36894	BMR1A_HUMAN	bone morphogenetic protein receptor, type IA	257	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				BMP signaling pathway (GO:0030509)|cartilage development (GO:0051216)|developmental growth (GO:0048589)|dorsal/ventral axis specification (GO:0009950)|ectoderm development (GO:0007398)|embryonic digit morphogenesis (GO:0042733)|embryonic organ development (GO:0048568)|endocardial cushion formation (GO:0003272)|heart formation (GO:0060914)|hindlimb morphogenesis (GO:0035137)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|lateral mesoderm development (GO:0048368)|lung development (GO:0030324)|mesendoderm development (GO:0048382)|mesoderm formation (GO:0001707)|Mullerian duct regression (GO:0001880)|negative regulation of neurogenesis (GO:0050768)|neural crest cell development (GO:0014032)|neural plate mediolateral regionalization (GO:0021998)|odontogenesis of dentin-containing tooth (GO:0042475)|palate development (GO:0060021)|paraxial mesoderm structural organization (GO:0048352)|pituitary gland development (GO:0021983)|positive regulation of bone mineralization (GO:0030501)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of lateral mesodermal cell fate specification (GO:0048378)|somitogenesis (GO:0001756)|stem cell maintenance (GO:0019827)|transforming growth factor beta receptor signaling pathway (GO:0007179)	dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|SMAD binding (GO:0046332)|transforming growth factor beta-activated receptor activity (GO:0005024)|transmembrane receptor protein serine/threonine kinase activity (GO:0004675)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|skin(1)|stomach(1)	24						GTGGCGAAAAAGTGGCGGTGA	0.453			"Mis, N, F"			gastrointestinal polyps			Juvenile Polyposis;Hereditary Mixed Polyposis syndrome type 2																												Ovarian(190;603 2086 22044 30335 47971)	ENST00000372037.2			yes	Rec		Juvenile polyposis	10	10q22.3	657	"Mis, N, F"	"bone morphogenetic protein receptor, type IA"			E		gastrointestinal polyps			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|skin(1)|stomach(1)	24						c.(769-771)aaA>aaT		bone morphogenetic protein receptor, type IA							41	40	41					10																	88676986		2202	4281	6483	SO:0001583	missense	657	Juvenile Polyposis;Hereditary Mixed Polyposis syndrome type 2	Familial Cancer Database	incl.: Juvenile Polyposis of the Stomach;HMPS2	BMP signaling pathway|immune response|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|transforming growth factor beta receptor signaling pathway	integral to membrane|plasma membrane	ATP binding|metal ion binding|protein homodimerization activity|SMAD binding|transforming growth factor beta receptor activity	g.chr10:88676986A>T	BC028383	CCDS7378.1	10q22.3	2014-09-17			ENSG00000107779	ENSG00000107779		"CD molecules"	1076	protein-coding gene	gene with protein product		601299		ACVRLK3		8397373, 9730621	Standard	NM_004329		Approved	ALK3, CD292	uc001kdy.3	P36894	OTTHUMG00000018657	ENST00000372037.3:c.771A>T	10.37:g.88676986A>T	ENSP00000361107:p.Lys257Asn						p.K257N	NM_004329.2	NP_004320.2	P36894	BMR1A_HUMAN			9	1308	+			257			Protein kinase.		A8K6U9|Q8NEN8	Missense_Mutation	SNP	ENST00000372037.3	37	c.771A>T	CCDS7378.1	.	.	.	.	.	.	.	.	.	.	A	6.634	0.485438	0.12641	.	.	ENSG00000107779	ENST00000224764;ENST00000372037	T	0.64438	-0.1	5.63	-2.17	0.07059	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.043295	0.85682	D	0.000000	T	0.43100	0.1232	L	0.39692	1.235	0.58432	D	0.999999	B	0.26744	0.158	B	0.26517	0.07	T	0.43829	-0.9367	10	0.05436	T	0.98	.	11.8104	0.52179	0.5405:0.0:0.4594:0.0	.	257	P36894	BMR1A_HUMAN	N	257	ENSP00000361107:K257N	ENSP00000224764:K257N	K	+	3	2	BMPR1A	88666966	0.982000	0.34865	0.964000	0.40570	0.936000	0.57629	0.242000	0.18087	-0.576000	0.05974	0.533000	0.62120	AAA		0.453	BMPR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049170.3	NM_004329		8	20	0	0	0	1	0	8	20					T	88676986	A	T	88676986	3	4	407	1	0	0	0	0	1	0	0	0	1469	69	3	5	797	5	BMPR1A	10	88676986	Missense_Mutation	SNP	A	TCGA-VN-A88R-01A-11D-A364-08	15118049	88676986	46857761	11	19794											
COL17A1	1308	broad.mit.edu	37	chr10	105832989	105832989	+	Nonsense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgtgtttgactccgtcctcTggttgaagaagatgctgaga	8	13	12	8	2	1	5	0	3	1	3	4	6	3	5	2	1	1	3	2	1	2	2			TCGA-VN-A88R-01A-11D-A364-08	TCGA-VN-A88R-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d624f520-0cf2-479f-a434-493117b54ed0	f3aa6d62-dfca-43e4-8c16-a07c4a3ad3e9	g.chr10:105832989T>A	ENST00000353479.5	-	7	684	c.394A>T	c.(394-396)Aga>Tga	p.R132*	COL17A1_ENST00000369733.3_Nonsense_Mutation_p.R132*|COL17A1_ENST00000393211.3_Nonsense_Mutation_p.R132*	NM_000494.3	NP_000485.3	Q9UMD9	COHA1_HUMAN	collagen, type XVII, alpha 1	132	Nonhelical region (NC16).				cell junction assembly (GO:0034329)|cell-matrix adhesion (GO:0007160)|collagen catabolic process (GO:0030574)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|hemidesmosome (GO:0030056)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				NS(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|liver(1)|lung(22)|ovary(5)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	62		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		CTCCGTCCTCTGGTTGAAGAA	0.418																																						ENST00000353479.5																			0				NS(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|liver(1)|lung(22)|ovary(5)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	62						c.(394-396)Aga>Tga		collagen, type XVII, alpha 1							215	226	222					10																	105832989		2203	4300	6503	SO:0001587	stop_gained	1308				cell-matrix adhesion|epidermis development|hemidesmosome assembly	basement membrane|cell-cell junction|collagen|hemidesmosome|integral to plasma membrane	protein binding	g.chr10:105832989T>A	M91669	CCDS7554.1	10q24.3	2013-01-16			ENSG00000065618	ENSG00000065618		"Collagens"	2194	protein-coding gene	gene with protein product		113811		BPAG2		7916703	Standard	NM_000494		Approved	BP180	uc001kxr.3	Q9UMD9	OTTHUMG00000018998	ENST00000353479.5:c.394A>T	10.37:g.105832989T>A	ENSP00000340937:p.Arg132*					COL17A1_ENST00000393211.3_Nonsense_Mutation_p.R132*|COL17A1_ENST00000369733.3_Nonsense_Mutation_p.R132*	p.R132*	NM_000494.3	NP_000485.3	Q9UMD9	COHA1_HUMAN		Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)	7	684	-		Colorectal(252;0.103)|Breast(234;0.122)	132			Nonhelical region (NC16).		Q02802|Q5JV36|Q99018|Q9NQK9|Q9UC14	Nonsense_Mutation	SNP	ENST00000353479.5	37	c.394A>T	CCDS7554.1	.	.	.	.	.	.	.	.	.	.	T	38	6.775772	0.97829	.	.	ENSG00000065618	ENST00000353479;ENST00000369733;ENST00000541872;ENST00000393211	.	.	.	5.36	4.21	0.49690	.	0.000000	0.50627	D	0.000114	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-23.565	10.9506	0.47327	0.0:0.0:0.2975:0.7025	.	.	.	.	X	132;132;116;132	.	ENSP00000340937:R132X	R	-	1	2	COL17A1	105822979	1.000000	0.71417	1.000000	0.80357	0.783000	0.44284	1.879000	0.39618	0.862000	0.35528	0.533000	0.62120	AGA		0.418	COL17A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050181.1	NM_130778, NM_000494		7	159	0	0	0	1	0	7	159					A	105832989	T	A	105832989	4	1	407	1	0	0	0	0	0	1	0	0	3674	1588	55	5	4299	5	COL17A1	10	105832989	Nonsense_Mutation	SNP	T	TCGA-VN-A88R-01A-11D-A364-08	17156003	105832989	29701758	12	19795											
BEST1	7439	broad.mit.edu	37	chr11	61730330	61730330	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aacatacacactacactcaaAgatcacatggatccttattg	16	10	4	11	0	2	1	2	0	0	1	3	2	3	2	1	1	3	0	1	1	5	4			TCGA-VN-A88R-01A-11D-A364-08	TCGA-VN-A88R-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d624f520-0cf2-479f-a434-493117b54ed0	f3aa6d62-dfca-43e4-8c16-a07c4a3ad3e9	g.chr11:61730330A>C	ENST00000378043.4	+	10	2347	c.1704A>C	c.(1702-1704)aaA>aaC	p.K568N	FTH1_ENST00000529191.1_Intron|BEST1_ENST00000301774.9_Missense_Mutation_p.K196N|FTH1_ENST00000529631.1_Intron|BEST1_ENST00000378042.3_Missense_Mutation_p.K481N|BEST1_ENST00000449131.2_Missense_Mutation_p.K508N|BEST1_ENST00000534553.1_3'UTR	NM_004183.3	NP_004174.1	O76090	BEST1_HUMAN	bestrophin 1	568					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|detection of light stimulus involved in visual perception (GO:0050908)|ion transmembrane transport (GO:0034220)|regulation of calcium ion transport (GO:0051924)|transepithelial chloride transport (GO:0030321)|transmembrane transport (GO:0055085)|visual perception (GO:0007601)	basolateral plasma membrane (GO:0016323)|chloride channel complex (GO:0034707)|cytosol (GO:0005829)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	chloride channel activity (GO:0005254)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(9)|prostate(1)|skin(2)|urinary_tract(2)	25						CTACACTCAAAGATCACATGG	0.502																																						ENST00000449131.2																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(9)|prostate(1)|skin(2)|urinary_tract(2)	25						c.(1522-1524)aaA>aaC		bestrophin 1							133	145	140					11																	61730330		2202	4299	6501	SO:0001583	missense	7439				response to stimulus|transepithelial chloride transport|visual perception	basolateral plasma membrane|chloride channel complex|cytosol|membrane fraction	chloride channel activity	g.chr11:61730330A>C	AF057170	CCDS31580.1, CCDS44623.1	11q12	2013-02-14	2006-10-18	2006-10-18	ENSG00000167995	ENSG00000167995		"Ion channels / Chloride channels : Calcium activated : Bestrophins"	12703	protein-coding gene	gene with protein product	"Best disease"	607854	"vitelliform macular dystrophy 2"	VMD2		1302019, 17003041	Standard	NM_004183		Approved	BMD, BEST, RP50	uc001nsr.2	O76090	OTTHUMG00000167469	ENST00000378043.4:c.1704A>C	11.37:g.61730330A>C	ENSP00000367282:p.Lys568Asn					BEST1_ENST00000301774.9_Missense_Mutation_p.K196N|BEST1_ENST00000534553.1_3'UTR|FTH1_ENST00000529631.1_Intron|BEST1_ENST00000378042.3_Missense_Mutation_p.K481N|FTH1_ENST00000529191.1_Intron|BEST1_ENST00000378043.4_Missense_Mutation_p.K568N	p.K508N	NM_001139443.1	NP_001132915.1	O76090	BEST1_HUMAN			9	1610	+			568					A8K0W6|B7Z3J8|B7Z736|O75904|Q53YQ9|Q8IUR9|Q8IZ80	Missense_Mutation	SNP	ENST00000378043.4	37	c.1524A>C	CCDS31580.1	.	.	.	.	.	.	.	.	.	.	A	13.05	2.122655	0.37436	.	.	ENSG00000167995	ENST00000378043;ENST00000378042;ENST00000301774;ENST00000449131	D;D;T;D	0.98135	-4.68;-4.55;-0.91;-4.74	4.6	0.935	0.19483	.	2.351530	0.01986	N	0.045206	D	0.94984	0.8377	L	0.29908	0.895	0.09310	N	0.999993	B;B;B	0.33238	0.403;0.18;0.13	B;B;B	0.33196	0.159;0.076;0.064	D	0.89242	0.3584	10	0.87932	D	0	-1.2766	7.13	0.25496	0.7113:0.0:0.2887:0.0	.	481;568;508	O76090-4;O76090;O76090-3	.;BEST1_HUMAN;.	N	568;481;196;508	ENSP00000367282:K568N;ENSP00000367281:K481N;ENSP00000301774:K196N;ENSP00000399709:K508N	ENSP00000301774:K196N	K	+	3	2	BEST1	61486906	0.071000	0.21146	0.000000	0.03702	0.006000	0.05464	0.934000	0.28910	0.049000	0.15920	0.459000	0.35465	AAA		0.502	BEST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394715.1	NM_004183		10	22	0	0	0	1	0	10	22					C	61730330	A	C	61730330	3	2	407	1	0	0	0	0	1	0	0	0	1404	69	3	5	1738	5	BEST1	11	61730330	Missense_Mutation	SNP	A	TCGA-VN-A88R-01A-11D-A364-08		61730330	73276186	13	19796											
PCNXL3	399909	broad.mit.edu	37	chr11	65385547	65385547	+	Frame_Shift_Del	DEL	C	C	-																															atggctgacactcccatgagCcccctgctgaaggggagcct																										TCGA-VN-A88R-01A-11D-A364-08	TCGA-VN-A88R-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d624f520-0cf2-479f-a434-493117b54ed0	f3aa6d62-dfca-43e4-8c16-a07c4a3ad3e9	g.chr11:65385547delC	ENST00000355703.3	+	6	1253	c.714delC	c.(712-714)agcfs	p.S238fs		NM_032223.2	NP_115599.2	Q9H6A9	PCX3_HUMAN	pecanex-like 3 (Drosophila)	238						integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)	13						CTCCCATGAGCCCCCTGCTGA	0.642																																						ENST00000355703.3																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)	13						c.(712-714)agfs		pecanex-like 3 (Drosophila)							13	17	16					11																	65385547		1985	4143	6128	SO:0001589	frameshift_variant	399909					integral to membrane		g.chr11:65385547delC	BX640978	CCDS44650.1	11q12.1	2008-07-21			ENSG00000197136	ENSG00000197136			18760	protein-coding gene	gene with protein product						15146197	Standard	NM_032223		Approved	FLJ22427	uc001oey.2	Q9H6A9	OTTHUMG00000166539	ENST00000355703.3:c.714delC	11.37:g.65385547delC	ENSP00000347931:p.Ser238fs						p.S238fs	NM_032223.2	NP_115599.2	Q9H6A9	PCX3_HUMAN			6	1253	+			238					Q6MZN8	Frame_Shift_Del	DEL	ENST00000355703.3	37	c.714delC	CCDS44650.1																																																																																				0.642	PCNXL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390321.1	NM_032223		2	4						2	4	---	---	---	---	-	65385547	C	-	65385547	7	5	407	1	0	1	0	1	0	0	0	0	11593	738	26	0	736	0	PCNXL3	11	65385547	Frame_Shift_Del	DEL	C	TCGA-VN-A88R-01A-11D-A364-08	3655217	65385547	69620969	14	19797											
PACS1	55690	broad.mit.edu	37	chr11	65838130	65838130	+	Frame_Shift_Del	DEL	C	C	-																															ccaggccacctcgtcgtcctCgtccacctcggcggcggctg																										TCGA-VN-A88R-01A-11D-A364-08	TCGA-VN-A88R-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d624f520-0cf2-479f-a434-493117b54ed0	f3aa6d62-dfca-43e4-8c16-a07c4a3ad3e9	g.chr11:65838130delC	ENST00000320580.4	+	1	206	c.173delC	c.(172-174)tcgfs	p.S59fs	RP11-1167A19.2_ENST00000529036.1_5'Flank	NM_018026.3	NP_060496.2	Q6VY07	PACS1_HUMAN	phosphofurin acidic cluster sorting protein 1	59	Ser-rich.				protein targeting to Golgi (GO:0000042)|protein targeting to plasma membrane (GO:0072661)|regulation of defense response to virus by virus (GO:0050690)|viral process (GO:0016032)	COPI-coated vesicle (GO:0030137)|cytosol (GO:0005829)	ion channel binding (GO:0044325)		RBM14/PACS1(2)	breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(8)|ovary(6)|skin(2)|urinary_tract(1)	37						TCGTCGTCCTCGTCCACCTCG	0.766																																						ENST00000320580.4																		RBM14/PACS1(2)	0				breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(8)|ovary(6)|skin(2)|urinary_tract(1)	37						c.(172-174)tgfs		phosphofurin acidic cluster sorting protein 1							7	9	8					11																	65838130		2135	4191	6326	SO:0001589	frameshift_variant	55690				interspecies interaction between organisms|regulation of defense response to virus by virus|viral reproduction	cytosol	protein binding	g.chr11:65838130delC	AB033001	CCDS8129.1	11q13.1-q13.2	2008-02-05			ENSG00000175115	ENSG00000175115			30032	protein-coding gene	gene with protein product		607492				12855553, 14608369	Standard	NM_018026		Approved	FLJ10209, KIAA1175	uc001oha.2	Q6VY07	OTTHUMG00000166889	ENST00000320580.4:c.173delC	11.37:g.65838130delC	ENSP00000316454:p.Ser59fs						p.S59fs	NM_018026.3	NP_060496.2	Q6VY07	PACS1_HUMAN			1	206	+			59			Ser-rich.		Q6PJY6|Q6PKB6|Q7Z590|Q7Z5W4|Q8N8K6|Q96MW0|Q9NW92|Q9ULP5	Frame_Shift_Del	DEL	ENST00000320580.4	37	c.173delC	CCDS8129.1																																																																																				0.766	PACS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391690.2	NM_018026		2	4						2	4	---	---	---	---	-	65838130	C	-	65838130	7	5	407	1	0	1	0	1	0	0	0	0	11372	893	31	0	175	0	PACS1	11	65838130	Frame_Shift_Del	DEL	C	TCGA-VN-A88R-01A-11D-A364-08	452583	65838130	69168386	15	19798											
ADAMTS8	11095	broad.mit.edu	37	chr11	130278687	130278687	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcctcgaacactttgaactcGctcctcccccgggctcggca	6	8	9	18	4	0	1	0	1	0	0	5	2	2	1	4	2	2	3	4	2	2	1			TCGA-VN-A88R-01A-11D-A364-08	TCGA-VN-A88R-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d624f520-0cf2-479f-a434-493117b54ed0	f3aa6d62-dfca-43e4-8c16-a07c4a3ad3e9	g.chr11:130278687G>T	ENST00000257359.6	-	7	2605	c.1899C>A	c.(1897-1899)agC>agA	p.S633R		NM_007037.4	NP_008968.4	Q9UP79	ATS8_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 8	633	Cys-rich.				negative regulation of cell proliferation (GO:0008285)|phosphate ion transmembrane transport (GO:0035435)	proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)|low-affinity phosphate transmembrane transporter activity (GO:0009673)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	10	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.039)|Lung(977;0.213)		CTTTGAACTCGCTCCTCCCCC	0.642																																						ENST00000257359.6																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	10						c.(1897-1899)agC>agA		ADAM metallopeptidase with thrombospondin type 1 motif, 8							89	92	91					11																	130278687		1917	4123	6040	SO:0001583	missense	11095				negative regulation of cell proliferation|proteolysis	proteinaceous extracellular matrix	heparin binding|integrin binding|low affinity phosphate transmembrane transporter activity|metalloendopeptidase activity|zinc ion binding	g.chr11:130278687G>T	AF060153	CCDS41732.1	11q25	2008-07-18	2005-08-19		ENSG00000134917	ENSG00000134917		"ADAM metallopeptidases with thrombospondin type 1 motif"	224	protein-coding gene	gene with protein product		605175	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 8"			10438512	Standard	NM_007037		Approved	METH2, FLJ41712, ADAM-TS8	uc001qgg.4	Q9UP79	OTTHUMG00000165656	ENST00000257359.6:c.1899C>A	11.37:g.130278687G>T	ENSP00000257359:p.Ser633Arg						p.S633R	NM_007037.4	NP_008968.4	Q9UP79	ATS8_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.039)|Lung(977;0.213)	7	2605	-	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)	633			Cys-rich.		Q9NZS0	Missense_Mutation	SNP	ENST00000257359.6	37	c.1899C>A	CCDS41732.1	.	.	.	.	.	.	.	.	.	.	G	13.47	2.247151	0.39697	.	.	ENSG00000134917	ENST00000531752;ENST00000257359;ENST00000414575	T	0.03553	3.89	5.76	-11.5	0.00074	.	0.072732	0.85682	N	0.000000	T	0.03564	0.0102	L	0.35793	1.09	0.26031	N	0.981733	B;B	0.25850	0.136;0.029	B;B	0.32724	0.151;0.023	T	0.42548	-0.9445	10	0.72032	D	0.01	.	17.747	0.88423	0.2408:0.1517:0.6075:0.0	.	633;114	Q9UP79;B3KVX9	ATS8_HUMAN;.	R	31;633;662	ENSP00000257359:S633R	ENSP00000257359:S633R	S	-	3	2	ADAMTS8	129783897	0.000000	0.05858	0.042000	0.18584	0.973000	0.67179	-2.970000	0.00668	-3.788000	0.00107	-1.063000	0.02288	AGC		0.642	ADAMTS8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385636.1	NM_007037		30	72	1	0	1.74807e-11	1	1.94785e-11	30	72					T	130278687	G	T	130278687	3	4	407	1	0	0	0	0	1	0	0	0	272	1078	38	5	782	5	ADAMTS8	11	130278687	Missense_Mutation	SNP	G	TCGA-VN-A88R-01A-11D-A364-08	64440557	130278687	4727829	16	19799											
NOS1	4842	broad.mit.edu	37	chr12	117696254	117696254	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	catttccatcaaagcacagcCgaatttctggaagccaaaac	15	8	6	12	1	2	0	1	0	1	0	3	2	3	1	3	1	4	1	3	1	5	2	rs544602522		TCGA-VN-A88R-01A-11D-A364-08	TCGA-VN-A88R-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d624f520-0cf2-479f-a434-493117b54ed0	f3aa6d62-dfca-43e4-8c16-a07c4a3ad3e9	g.chr12:117696254C>T	ENST00000338101.4	-	15	2483	c.2479G>A	c.(2479-2481)Ggc>Agc	p.G827S	NOS1_ENST00000317775.6_Missense_Mutation_p.G827S|NOS1_ENST00000344089.3_3'UTR			Q8WY41	NANO1_HUMAN	nitric oxide synthase 1 (neuronal)	0					cell migration (GO:0016477)|epithelial cell migration (GO:0010631)|negative regulation of translation (GO:0017148)	cytoplasm (GO:0005737)|perinuclear region of cytoplasm (GO:0048471)	RNA binding (GO:0003723)|translation repressor activity (GO:0030371)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)		AAAGCACAGCCGAATTTCTGG	0.507													C|||	1	0.000199681	0	0	5008	,	,		20568	0		0	False		,,,				2504	0.001				Esophageal Squamous(162;1748 2599 51982 52956)	ENST00000317775.6																			0				NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						c.(2479-2481)Ggc>Agc		nitric oxide synthase 1 (neuronal)	L-Citrulline(DB00155)						80	79	79					12																	117696254		1932	4136	6068	SO:0001583	missense	4842				multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding	g.chr12:117696254C>T		CCDS41842.1, CCDS55890.1	12q24.22	2013-09-19			ENSG00000089250	ENSG00000089250	1.14.13.39		7872	protein-coding gene	gene with protein product		163731		NOS		1385308, 7682706	Standard	NM_001204213		Approved	nNOS	uc001twn.2	P29475	OTTHUMG00000137376	ENST00000338101.4:c.2479G>A	12.37:g.117696254C>T	ENSP00000337459:p.Gly827Ser					NOS1_ENST00000338101.4_Missense_Mutation_p.G827S|NOS1_ENST00000344089.3_3'UTR	p.G827S	NM_000620.4|NM_001204218.1	NP_000611.1|NP_001191147.1	P29475	NOS1_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.0561)	16	3164	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		827			Flavodoxin-like.			Missense_Mutation	SNP	ENST00000338101.4	37	c.2479G>A	CCDS55890.1	.	.	.	.	.	.	.	.	.	.	C	19.77	3.890015	0.72524	.	.	ENSG00000089250	ENST00000397605;ENST00000317775;ENST00000541241;ENST00000338101	T;T	0.58358	0.34;0.34	5.42	5.42	0.78866	Flavodoxin/nitric oxide synthase (2);	0.000000	0.85682	D	0.000000	T	0.41419	0.1158	N	0.16201	0.385	0.80722	D	1	D	0.55800	0.973	B	0.43386	0.418	T	0.39603	-0.9606	10	0.40728	T	0.16	-29.1727	18.8369	0.92167	0.0:1.0:0.0:0.0	.	827	P29475	NOS1_HUMAN	S	722;827;827;827	ENSP00000320758:G827S;ENSP00000337459:G827S	ENSP00000320758:G827S	G	-	1	0	NOS1	116180637	1.000000	0.71417	0.991000	0.47740	0.878000	0.50629	5.235000	0.65348	2.537000	0.85549	0.655000	0.94253	GGC		0.507	NOS1-002	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000268053.1			11	17	0	0	0	1	0	11	17					T	117696254	C	T	117696254	3	4	407	1	0	0	0	0	1	0	0	0	10541	652	23	2	1881	2	NOS1	12	117696254	Missense_Mutation	SNP	C	TCGA-VN-A88R-01A-11D-A364-08		117696254	16155641	17	19800											
PABPC3	5042	broad.mit.edu	37	chr13	25671849	25671849	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgctgtgcgcacggttccaCggtataaatatgctgcggga	8	10	13	10	4	0	0	0	0	0	0	1	1	1	1	1	3	4	5	1	3	4	4			TCGA-VN-A88R-01A-11D-A364-08	TCGA-VN-A88R-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d624f520-0cf2-479f-a434-493117b54ed0	f3aa6d62-dfca-43e4-8c16-a07c4a3ad3e9	g.chr13:25671849C>T	ENST00000281589.3	+	1	1550	c.1513C>T	c.(1513-1515)Cgg>Tgg	p.R505W		NM_030979.2	NP_112241.2	Q9H361	PABP3_HUMAN	poly(A) binding protein, cytoplasmic 3	505					mRNA metabolic process (GO:0016071)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|pancreas(1)|skin(3)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)		CACGGTTCCACGGTATAAATA	0.532																																						ENST00000281589.3																			0				breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|pancreas(1)|skin(3)	47						c.(1513-1515)Cgg>Tgg		poly(A) binding protein, cytoplasmic 3							56	53	54					13																	25671849		2203	4300	6503	SO:0001583	missense	5042				mRNA metabolic process	cytoplasm	nucleotide binding|poly(A) RNA binding	g.chr13:25671849C>T	AF132026	CCDS9311.1	13q12-q13	2013-02-12	2001-11-28		ENSG00000151846	ENSG00000151846		"RNA binding motif (RRM) containing"	8556	protein-coding gene	gene with protein product	"testis PABP"	604680	"poly(A)-binding protein, cytoplasmic 3"	PABPL3		8432538, 10543404	Standard	NM_030979		Approved	PABP3, tPABP	uc001upy.3	Q9H361	OTTHUMG00000016601	ENST00000281589.3:c.1513C>T	13.37:g.25671849C>T	ENSP00000281589:p.Arg505Trp						p.R505W	NM_030979.2	NP_112241.2	Q9H361	PABP3_HUMAN		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)	1	1550	+		Lung SC(185;0.0225)|Breast(139;0.0602)	505					Q8NHV0|Q9H086	Missense_Mutation	SNP	ENST00000281589.3	37	c.1513C>T	CCDS9311.1	.	.	.	.	.	.	.	.	.	.	C	14.37	2.515675	0.44763	.	.	ENSG00000151846	ENST00000281589	T	0.43688	0.94	1.0	1.0	0.19881	Polyadenylate-binding protein/Hyperplastic disc protein (1);	0.145139	0.30356	U	0.009810	T	0.25269	0.0614	N	0.14661	0.345	0.30717	N	0.748613	P	0.52170	0.951	P	0.44860	0.462	T	0.24404	-1.0161	10	0.59425	D	0.04	.	7.8319	0.29347	0.0:1.0:0.0:0.0	.	505	Q9H361	PABP3_HUMAN	W	505	ENSP00000281589:R505W	ENSP00000281589:R505W	R	+	1	2	PABPC3	24569849	1.000000	0.71417	0.199000	0.23439	0.004000	0.04260	2.309000	0.43699	0.837000	0.34925	0.462000	0.41574	CGG		0.532	PABPC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044220.2	NM_030979		21	27	0	0	0	1	0	21	27					T	25671849	C	T	25671849	3	4	407	1	0	0	0	0	1	0	0	0	11365	527	19	1	1515	1	PABPC3	13	25671849	Missense_Mutation	SNP	C	TCGA-VN-A88R-01A-11D-A364-08		25671849	89498029	18	19801											
USP12	219333	broad.mit.edu	37	chr13	27745742	27745742	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	cacctaccatggtacagatgGaggcgaatttggagactgtc	11	9	12	9	1	0	2	0	0	0	2	1	5	0	3	2	4	2	1	2	4	3	3			TCGA-VN-A88R-01A-11D-A364-08	TCGA-VN-A88R-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d624f520-0cf2-479f-a434-493117b54ed0	f3aa6d62-dfca-43e4-8c16-a07c4a3ad3e9	g.chr13:27745742G>A	ENST00000282344.6	-	1	291	c.35C>T	c.(34-36)tCc>tTc	p.S12F	USP12-AS2_ENST00000452222.1_RNA|USP12-AS1_ENST00000440657.1_RNA	NM_182488.3	NP_872294.2	O75317	UBP12_HUMAN	ubiquitin specific peptidase 12	12					protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type endopeptidase activity (GO:0004197)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			breast(3)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Lung SC(185;0.0161)		all cancers(112;0.0508)|GBM - Glioblastoma multiforme(144;0.168)|Epithelial(112;0.244)|OV - Ovarian serous cystadenocarcinoma(117;0.246)		GGTACAGATGGAGGCGAATTT	0.721																																					Ovarian(37;808 911 7590 44442 44991)	ENST00000282344.6																			0				breast(3)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						c.(34-36)tCc>tTc		ubiquitin specific peptidase 12							11	11	11					13																	27745742		2182	4269	6451	SO:0001583	missense	219333				protein deubiquitination|ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr13:27745742G>A	AL049221	CCDS31952.1	13q12.13	2010-05-12	2005-08-08	2003-10-08	ENSG00000152484	ENSG00000152484		"Ubiquitin-specific peptidases"	20485	protein-coding gene	gene with protein product			"ubiquitin specific protease 12 like 1", "ubiquitin specific protease 12"	USP12L1		12838346	Standard	NM_182488		Approved		uc001uqy.3	O75317	OTTHUMG00000016626	ENST00000282344.6:c.35C>T	13.37:g.27745742G>A	ENSP00000282344:p.Ser12Phe						p.S12F	NM_182488.3	NP_872294.2	O75317	UBP12_HUMAN		all cancers(112;0.0508)|GBM - Glioblastoma multiforme(144;0.168)|Epithelial(112;0.244)|OV - Ovarian serous cystadenocarcinoma(117;0.246)	1	291	-		Lung SC(185;0.0161)	12					A8K0X0|Q5VZV3|Q8TC49	Missense_Mutation	SNP	ENST00000282344.6	37	c.35C>T	CCDS31952.1	.	.	.	.	.	.	.	.	.	.	G	16.01	3.001129	0.54254	.	.	ENSG00000152484	ENST00000282344	T	0.24538	1.85	3.45	3.45	0.39498	.	0.231780	0.27901	U	0.017399	T	0.17662	0.0424	N	0.19112	0.55	0.53688	D	0.999972	B	0.06786	0.001	B	0.06405	0.002	T	0.04427	-1.0952	10	0.38643	T	0.18	-0.0018	14.541	0.67995	0.0:0.0:1.0:0.0	.	12	O75317	UBP12_HUMAN	F	12	ENSP00000282344:S12F	ENSP00000282344:S12F	S	-	2	0	USP12	26643742	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	7.389000	0.79806	1.487000	0.48415	0.298000	0.19748	TCC		0.721	USP12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044264.1	NM_182488		8	7	0	0	0	1	0	8	7					A	27745742	G	A	27745742	3	1	407	1	0	0	0	0	1	0	0	0	17040	1174	41	3	1113	3	USP12	13	27745742	Missense_Mutation	SNP	G	TCGA-VN-A88R-01A-11D-A364-08	2073893	27745742	87424136	19	19802											
DAAM1	23002	broad.mit.edu	37	chr14	59797408	59797408	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctccatgagctcagcagggTgaggtcttccgctcagctca	7	9	12	13	1	4	2	3	2	1	0	6	2	6	2	2	2	3	5	2	2	0	1			TCGA-VN-A88R-01A-11D-A364-08	TCGA-VN-A88R-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d624f520-0cf2-479f-a434-493117b54ed0	f3aa6d62-dfca-43e4-8c16-a07c4a3ad3e9	g.chr14:59797408T>C	ENST00000395125.1	+	12	1583		c.e12+2		DAAM1_ENST00000351081.1_Splice_Site|DAAM1_ENST00000360909.3_Splice_Site	NM_014992.2	NP_055807.1	Q9Y4D1	DAAM1_HUMAN	dishevelled associated activator of morphogenesis 1						actin cytoskeleton organization (GO:0030036)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	identical protein binding (GO:0042802)			breast(3)|cervix(3)|endometrium(5)|kidney(5)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	37				OV - Ovarian serous cystadenocarcinoma(108;0.165)		CTCAGCAGGGTGAGGTCTTCC	0.512																																						ENST00000395125.1																			0				breast(3)|cervix(3)|endometrium(5)|kidney(5)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	37						c.e12+2		dishevelled associated activator of morphogenesis 1							52	53	52					14																	59797408		2203	4300	6503	SO:0001630	splice_region_variant	23002				actin cytoskeleton organization	cytoplasm|plasma membrane	actin binding|Rho GTPase binding	g.chr14:59797408T>C	AB014566	CCDS9737.1, CCDS58323.1	14q22.3	2008-08-11			ENSG00000100592	ENSG00000100592			18142	protein-coding gene	gene with protein product		606626				11779461, 18162551	Standard	NM_014992		Approved	KIAA0666	uc031qou.1	Q9Y4D1	OTTHUMG00000140326	ENST00000395125.1:c.1560+2T>C	14.37:g.59797408T>C						DAAM1_ENST00000351081.1_Splice_Site|DAAM1_ENST00000360909.3_Splice_Site		NM_014992.2	NP_055807.1	Q9Y4D1	DAAM1_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.165)	12	1583	+								Q86U34|Q8N1Z8|Q8TB39	Splice_Site	SNP	ENST00000395125.1	37		CCDS9737.1	.	.	.	.	.	.	.	.	.	.	T	24.0	4.486724	0.84854	.	.	ENSG00000100592	ENST00000360909;ENST00000351081;ENST00000358498;ENST00000395125	.	.	.	5.98	5.98	0.97165	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.4622	0.84064	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	DAAM1	58867161	1.000000	0.71417	1.000000	0.80357	0.923000	0.55619	7.951000	0.87819	2.289000	0.77006	0.533000	0.62120	.		0.512	DAAM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276942.2	NM_014992	Intron	9	10	0	0	0	1	0	9	10					C	59797408	T	C	59797408	5	2	407	1	0	0	0	0	0	0	1	0	4215	1710	59	4	1608	4	DAAM1	14	59797408	Splice_Site	SNP	T	TCGA-VN-A88R-01A-11D-A364-08		59797408	47552132	20	19803											
C14orf149	112849	broad.mit.edu	37	chr14	59942682	59942682	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctttgtgatactgtaaggCaattcgggctgtcactcctg	7	13	10	11	1	1	1	1	1	0	0	3	1	2	1	2	2	1	3	2	2	3	4			TCGA-VN-A88R-01A-11D-A364-08	TCGA-VN-A88R-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d624f520-0cf2-479f-a434-493117b54ed0	f3aa6d62-dfca-43e4-8c16-a07c4a3ad3e9	g.chr14:59942682C>T	ENST00000247194.4	-	4	957	c.844G>A	c.(844-846)Gcc>Acc	p.A282T	L3HYPDH_ENST00000543619.1_5'Flank|L3HYPDH_ENST00000487285.1_Missense_Mutation_p.A111T	NM_144581.1	NP_653182.1	Q96EM0	T3HPD_HUMAN	L-3-hydroxyproline dehydratase (trans-)	282					metabolic process (GO:0008152)		hydro-lyase activity (GO:0016836)|trans-L-3-hydroxyproline dehydratase activity (GO:0050346)									L-Proline(DB00172)	TACTGTAAGGCAATTCGGGCT	0.458																																						ENST00000247194.4																			0											c.(844-846)Gcc>Acc		L-3-hydroxyproline dehydratase (trans-)							87	82	84					14																	59942682		2203	4300	6503	SO:0001583	missense	112849							g.chr14:59942682C>T	AI762327	CCDS9739.1	14q23.1	2012-08-15	2012-08-15	2012-08-15	ENSG00000126790	ENSG00000126790	4.2.1.77		20488	protein-coding gene	gene with protein product	"trans-L-3-hydroxyproline dehydratase"	614811	"chromosome 14 open reading frame 149"	C14orf149		22528483	Standard	NM_144581		Approved	FLJ25436	uc001xee.1	Q96EM0	OTTHUMG00000028941	ENST00000247194.4:c.844G>A	14.37:g.59942682C>T	ENSP00000247194:p.Ala282Thr					L3HYPDH_ENST00000487285.1_Missense_Mutation_p.A111T	p.A282T	NM_144581.1	NP_653182.1					4	957	-								Q96LJ5	Missense_Mutation	SNP	ENST00000247194.4	37	c.844G>A	CCDS9739.1	.	.	.	.	.	.	.	.	.	.	C	34	5.403894	0.96051	.	.	ENSG00000126790	ENST00000247194;ENST00000487285;ENST00000481608	T;T;T	0.41758	0.99;0.99;0.99	5.48	5.48	0.80851	.	0.000000	0.85682	D	0.000000	T	0.76133	0.3945	H	0.95294	3.65	0.80722	D	1	D	0.71674	0.998	D	0.77004	0.989	D	0.83807	0.0239	9	.	.	.	.	18.925	0.92541	0.0:1.0:0.0:0.0	.	282	Q96EM0	PRCM_HUMAN	T	282;111;111	ENSP00000247194:A282T;ENSP00000431608:A111T;ENSP00000423874:A111T	.	A	-	1	0	C14orf149	59012435	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	7.211000	0.77933	2.556000	0.86216	0.453000	0.30009	GCC		0.458	L3HYPDH-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000072254.5	NM_144581		19	25	0	0	0	1	0	19	25					T	59942682	C	T	59942682	3	4	407	1	0	0	0	0	1	0	0	0	1752	710	25	3	228	3	C14orf149	14	59942682	Missense_Mutation	SNP	C	TCGA-VN-A88R-01A-11D-A364-08	145274	59942682	47406858	21	19804											
NDE1	54820	broad.mit.edu	37	chr16	15771720	15771720	+	Silent	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	tcagccttggaggatgacctCgcgcagaccaaagccattaa	12	7	10	12	2	1	2	1	1	0	1	2	4	1	4	4	2	2	1	4	2	2	2	rs189787660		TCGA-VN-A88R-01A-11D-A364-08	TCGA-VN-A88R-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d624f520-0cf2-479f-a434-493117b54ed0	f3aa6d62-dfca-43e4-8c16-a07c4a3ad3e9	g.chr16:15771720C>G	ENST00000396353.2	+	5	1126	c.300C>G	c.(298-300)ctC>ctG	p.L100L	NDE1_ENST00000342673.5_Silent_p.L100L|NDE1_ENST00000396354.1_Silent_p.L100L|NDE1_ENST00000396355.1_Silent_p.L100L			Q9NXR1	NDE1_HUMAN	nudE neurodevelopment protein 1	100	Interaction with PAFAH1B1. {ECO:0000250}.				centrosome duplication (GO:0051298)|cerebral cortex development (GO:0021987)|establishment of chromosome localization (GO:0051303)|establishment of mitotic spindle orientation (GO:0000132)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|neuroblast proliferation (GO:0007405)|neuron migration (GO:0001764)|vesicle transport along microtubule (GO:0047496)	centrosome (GO:0005813)|cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|spindle pole centrosome (GO:0031616)	microtubule binding (GO:0008017)	p.L100L(1)		endometrium(3)|kidney(3)|large_intestine(1)|lung(5)|ovary(1)	13						AGGATGACCTCGCGCAGACCA	0.498																																						ENST00000396355.1																			1	Substitution - coding silent(1)	p.L100L(1)	lung(1)	endometrium(3)|kidney(3)|large_intestine(1)|lung(5)|ovary(1)	13						c.(298-300)ctC>ctG		nudE neurodevelopment protein 1							109	96	101					16																	15771720		2197	4300	6497	SO:0001819	synonymous_variant	54820				cell differentiation|cell division|centrosome duplication|establishment of chromosome localization|establishment of mitotic spindle orientation|G2/M transition of mitotic cell cycle|mitotic prometaphase|nervous system development	cleavage furrow|condensed chromosome kinetochore|cytosol|microtubule|spindle pole centrosome	microtubule binding	g.chr16:15771720C>G	AF124431	CCDS10564.1	16p13.11	2013-08-06	2013-08-06		ENSG00000072864	ENSG00000072864			17619	protein-coding gene	gene with protein product		609449	"nudE nuclear distribution gene E homolog 1 (A. nidulans)", "nudE nuclear distribution E homolog 1 (A. nidulans)"			10940388, 12427674	Standard	NM_017668		Approved	nudE, FLJ20101, NDE	uc002dds.3	Q9NXR1	OTTHUMG00000129885	ENST00000396353.2:c.300C>G	16.37:g.15771720C>G						NDE1_ENST00000396354.1_Silent_p.L100L|NDE1_ENST00000396353.2_Silent_p.L100L|NDE1_ENST00000342673.5_Silent_p.L100L	p.L100L	NM_001143979.1	NP_001137451.1	Q9NXR1	NDE1_HUMAN			5	1126	+			100			Interaction with PAFAH1B1 (By similarity).		Q49AQ2	Silent	SNP	ENST00000396353.2	37	c.300C>G																																																																																					0.498	NDE1-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_017668		10	9	0	0	0	1	0	10	9					G	15771720	C	G	15771720	2	3	407	1	0	0	0	0	0	0	0	1	10243	871	31	5		5	NDE1	16	15771720	Silent	SNP	C	TCGA-VN-A88R-01A-11D-A364-08		15771720	74583033	22	19805											
PDPR	55066	broad.mit.edu	37	chr16	70187414	70187414	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	tttttgccttctggggtcagGatataaataacctcaccacg	10	13	8	10	1	3	0	2	0	1	0	3	1	3	1	3	3	2	0	3	3	4	6			TCGA-VN-A88R-01A-11D-A364-08	TCGA-VN-A88R-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d624f520-0cf2-479f-a434-493117b54ed0	f3aa6d62-dfca-43e4-8c16-a07c4a3ad3e9	g.chr16:70187414G>C	ENST00000288050.4	+	18	3130	c.2173G>C	c.(2173-2175)Gat>Cat	p.D725H	RP11-296I10.3_ENST00000566989.1_RNA|PDPR_ENST00000562100.1_Intron|PDPR_ENST00000567046.1_Missense_Mutation_p.D83H|PDPR_ENST00000398122.3_Missense_Mutation_p.D625H|PDPR_ENST00000568530.1_Missense_Mutation_p.D725H|PDPR_ENST00000542659.1_Missense_Mutation_p.D70H	NM_017990.3	NP_060460.4	Q8NCN5	PDPR_HUMAN	pyruvate dehydrogenase phosphatase regulatory subunit	725					cellular metabolic process (GO:0044237)|glycine catabolic process (GO:0006546)|pyruvate metabolic process (GO:0006090)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|mitochondrial matrix (GO:0005759)	aminomethyltransferase activity (GO:0004047)|oxidoreductase activity (GO:0016491)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|skin(2)|stomach(3)	33				BRCA - Breast invasive adenocarcinoma(221;0.124)		CTGGGGTCAGGATATAAATAA	0.478																																						ENST00000288050.4																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|skin(2)|stomach(3)	33						c.(2173-2175)Gat>Cat		pyruvate dehydrogenase phosphatase regulatory subunit							87	90	89					16																	70187414		1925	4137	6062	SO:0001583	missense	55066				glycine catabolic process|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	aminomethyltransferase activity|oxidoreductase activity	g.chr16:70187414G>C		CCDS45520.1	16q22.1	2010-08-24			ENSG00000090857	ENSG00000090857			30264	protein-coding gene	gene with protein product						9395502	Standard	NM_017990		Approved	PDP3	uc002eyf.1	Q8NCN5		ENST00000288050.4:c.2173G>C	16.37:g.70187414G>C	ENSP00000288050:p.Asp725His					PDPR_ENST00000542659.1_Missense_Mutation_p.D70H|PDPR_ENST00000567046.1_Missense_Mutation_p.D83H|PDPR_ENST00000568530.1_Missense_Mutation_p.D725H|PDPR_ENST00000562100.1_Intron|PDPR_ENST00000398122.3_Missense_Mutation_p.D625H	p.D725H	NM_017990.3	NP_060460.4	Q8NCN5	PDPR_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.124)	18	3130	+			725					A7E298|A8K8Y7|B3KSE1|Q6AI20|Q6AWC9	Missense_Mutation	SNP	ENST00000288050.4	37	c.2173G>C	CCDS45520.1	.	.	.	.	.	.	.	.	.	.	G	35	5.427965	0.96131	.	.	ENSG00000090857	ENST00000288050;ENST00000398122;ENST00000542659	D;D;D	0.88975	-2.45;-2.45;-2.45	6.04	6.04	0.98038	Glycine cleavage T-protein, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.96269	0.8783	M	0.93720	3.45	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.96531	0.9393	10	0.87932	D	0	.	19.5674	0.95401	0.0:0.0:1.0:0.0	.	725	Q8NCN5	PDPR_HUMAN	H	725;625;70	ENSP00000288050:D725H;ENSP00000381190:D625H;ENSP00000441690:D70H	ENSP00000288050:D725H	D	+	1	0	PDPR	68744915	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.793000	0.99091	2.873000	0.98535	0.561000	0.74099	GAT		0.478	PDPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434502.1	NM_017990		5	8	0	0	0	1	0	5	8					C	70187414	G	C	70187414	3	2	407	1	0	0	0	0	1	0	0	0	11689	1174	41	5	2235	5	PDPR	16	70187414	Missense_Mutation	SNP	G	TCGA-VN-A88R-01A-11D-A364-08	54415694	70187414	20167339	23	19806											
ZFHX3	463	broad.mit.edu	37	chr16	72828649	72828650	+	Frame_Shift_Ins	INS	-	-	A																															ccggtgtgatggttgttctcINSaaacgcttgtctctctgagg																										TCGA-VN-A88R-01A-11D-A364-08	TCGA-VN-A88R-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d624f520-0cf2-479f-a434-493117b54ed0	f3aa6d62-dfca-43e4-8c16-a07c4a3ad3e9	g.chr16:72828649_72828650insA	ENST00000268489.5	-	9	8603_8604	c.7931_7932insT	c.(7930-7932)ttgfs	p.L2644fs	ZFHX3_ENST00000397992.5_Frame_Shift_Ins_p.L1730fs	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	2644					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|muscle organ development (GO:0007517)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of myoblast differentiation (GO:0045663)|regulation of neuron differentiation (GO:0045664)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	enzyme binding (GO:0019899)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				TGGTTGTTCTCAAACGCTTGTC	0.49																																						ENST00000268489.5																			0				NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153						c.(7930-7932)tagfs		zinc finger homeobox 3																																				SO:0001589	frameshift_variant	463				muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr16:72828649_72828650insA	D10250	CCDS10908.1, CCDS54035.1	16q22.3	2012-03-09	2007-08-09	2007-08-09	ENSG00000140836	ENSG00000140836		"Zinc fingers, C2H2-type", "Homeoboxes / ZF class"	777	protein-coding gene	gene with protein product		104155	"AT-binding transcription factor 1"	ATBF1		1719379, 7592926	Standard	NM_006885		Approved	ZNF927	uc002fck.3	Q15911	OTTHUMG00000137599	ENST00000268489.5:c.7932dupT	16.37:g.72828652_72828652dupA	ENSP00000268489:p.Leu2644fs					ZFHX3_ENST00000397992.5_Frame_Shift_Ins_p.*1730fs	p.*2644fs	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN			9	8603_8604	-		Ovarian(137;0.13)	2644					D3DWS8|O15101|Q13719	Frame_Shift_Ins	INS	ENST00000268489.5	37	c.7931_7932insT	CCDS10908.1																																																																																				0.49	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269008.1	NM_006885		7	194						7	194	---	---	---	---	A	72828650	-	A	72828649	7	5	407	1	0	1	1	0	0	0	0	0	17631	825	29	0	3187	0	ZFHX3	16	72828649	Frame_Shift_Ins	INS	-	TCGA-VN-A88R-01A-11D-A364-08	2641235	72828649	17526104	24	19807											
ERBB2	2064	broad.mit.edu	37	chr17	37872561	37872561	+	Frame_Shift_Del	DEL	G	G	-																															ctcctcactgcagtgggcgaGggcctggcctgccaccagct																										TCGA-VN-A88R-01A-11D-A364-08	TCGA-VN-A88R-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d624f520-0cf2-479f-a434-493117b54ed0	f3aa6d62-dfca-43e4-8c16-a07c4a3ad3e9	g.chr17:37872561delG	ENST00000269571.5	+	13	1680	c.1521delG	c.(1519-1521)gagfs	p.E507fs	ERBB2_ENST00000541774.1_Frame_Shift_Del_p.E492fs|ERBB2_ENST00000540147.1_Frame_Shift_Del_p.E477fs|ERBB2_ENST00000445658.2_Frame_Shift_Del_p.E231fs|ERBB2_ENST00000584601.1_Frame_Shift_Del_p.E477fs|ERBB2_ENST00000406381.2_Frame_Shift_Del_p.E477fs|ERBB2_ENST00000584450.1_Frame_Shift_Del_p.E507fs|ERBB2_ENST00000540042.1_Frame_Shift_Del_p.E477fs|ERBB2_ENST00000578199.1_Frame_Shift_Del_p.E477fs			P04626	ERBB2_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2	507					axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|enzyme linked receptor protein signaling pathway (GO:0007167)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|motor neuron axon guidance (GO:0008045)|myelination (GO:0042552)|negative regulation of immature T cell proliferation in thymus (GO:0033088)|neuromuscular junction development (GO:0007528)|neurotrophin TRK receptor signaling pathway (GO:0048011)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine phosphorylation (GO:0018108)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell growth (GO:0030307)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of transcription from RNA polymerase I promoter (GO:0045943)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of angiogenesis (GO:0045765)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of microtubule-based process (GO:0032886)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|transcription, DNA-templated (GO:0006351)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|ErbB-3 class receptor binding (GO:0043125)|identical protein binding (GO:0042802)|protein C-terminus binding (GO:0008022)|protein dimerization activity (GO:0046983)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|RNA polymerase I core binding (GO:0001042)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4)	247	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	ado-trastuzumab emtansine(DB05773)|Afatinib(DB08916)|Lapatinib(DB01259)|Pertuzumab(DB06366)|Trastuzumab(DB00072)	CAGTGGGCGAGGGCCTGGCCT	0.677		1	"A, Mis, O"		"breast, ovarian, other tumour types, NSCLC, gastric"					TCGA GBM(5;<1E-08)																												ENST00000406381.2		1		Dom	yes		17	17q21.1	2064	"A, Mis, O"	"v-erb-b2 erythroblastic leukemia viral oncogene homolog 2, neuro/glioblastoma derived oncogene homolog (avian)"			E			"breast, ovarian, other tumour types, NSCLC, gastric"		0				NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4)	247						c.(1429-1431)gafs		v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2	Lapatinib(DB01259)|Letrozole(DB01006)|Trastuzumab(DB00072)						14	14	14					17																	37872561		2193	4296	6489	SO:0001589	frameshift_variant	2064				cell proliferation|heart development|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of cell adhesion|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|protein autophosphorylation|regulation of angiogenesis|regulation of microtubule-based process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|wound healing	integral to membrane|nucleus|perinuclear region of cytoplasm|receptor complex	ATP binding|DNA binding|epidermal growth factor receptor activity|ErbB-3 class receptor binding|identical protein binding|protein C-terminus binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	g.chr17:37872561delG	X03363	CCDS32642.1, CCDS45667.1, CCDS74052.1	17q11.2-q12	2014-09-17	2013-07-09			ENSG00000141736		"CD molecules"	3430	protein-coding gene	gene with protein product	"neuro/glioblastoma derived oncogene homolog"	164870	"v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2 (neuro/glioblastoma derived oncogene homolog)"	NGL			Standard	XM_005257140		Approved	NEU, HER-2, CD340, HER2	uc002hso.3	P04626		ENST00000269571.5:c.1521delG	17.37:g.37872561delG	ENSP00000269571:p.Glu507fs	TCGA GBM(5;<1E-08)				ERBB2_ENST00000584450.1_Frame_Shift_Del_p.E507fs|ERBB2_ENST00000269571.5_Frame_Shift_Del_p.E507fs|ERBB2_ENST00000541774.1_Frame_Shift_Del_p.E492fs|ERBB2_ENST00000540147.1_Frame_Shift_Del_p.E477fs|ERBB2_ENST00000445658.2_Frame_Shift_Del_p.E231fs|ERBB2_ENST00000578199.1_Frame_Shift_Del_p.E477fs|ERBB2_ENST00000540042.1_Frame_Shift_Del_p.E477fs|ERBB2_ENST00000584601.1_Frame_Shift_Del_p.E477fs	p.E477fs	NM_001005862.1	NP_001005862.1	P04626	ERBB2_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	15	1941	+	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	507					B2RZG3|B4DHN3|Q14256|Q6LDV1|Q9UMK4|X5D2V5	Frame_Shift_Del	DEL	ENST00000269571.5	37	c.1431delG	CCDS32642.1																																																																																				0.677	ERBB2-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445621.2			2	4						2	4	---	---	---	---	-	37872561	G	-	37872561	7	5	407	1	0	1	0	1	0	0	0	0	5206	991	35	0	1571	0	ERBB2	17	37872561	Frame_Shift_Del	DEL	G	TCGA-VN-A88R-01A-11D-A364-08		37872561	43322649	25	19808											
KRTAP4-8	728224	broad.mit.edu	37	chr17	39254037	39254037	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gacacacagcagctggggcgGcagcagctggagatgcagca	11	3	16	11	1	0	1	0	0	0	1	0	3	0	1	0	4	6	7	0	4	0	0			TCGA-VN-A88R-01A-11D-A364-08	TCGA-VN-A88R-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d624f520-0cf2-479f-a434-493117b54ed0	f3aa6d62-dfca-43e4-8c16-a07c4a3ad3e9	g.chr17:39254037G>A	ENST00000333822.4	-	1	356	c.300C>T	c.(298-300)tgC>tgT	p.C100C		NM_031960.2	NP_114166.1	Q9BYQ9	KRA48_HUMAN	keratin associated protein 4-8	100	25 X 5 AA repeats of C-C-[IKRQVHEC]- [SPRT]-[STCVQPR].				aging (GO:0007568)|hair cycle (GO:0042633)	keratin filament (GO:0045095)				endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|prostate(1)	11						agctggggcggcagcagctgg	0.662																																						ENST00000333822.4																			0				endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|prostate(1)	11						c.(298-300)tgC>tgT		keratin associated protein 4-8							6	9	8					17																	39254037		676	1553	2229	SO:0001819	synonymous_variant	728224					keratin filament		g.chr17:39254037G>A	AJ406940	CCDS45674.1	17q21.2	2013-06-25			ENSG00000204880	ENSG00000204880		"Keratin associated proteins"	17230	protein-coding gene	gene with protein product						11279113	Standard	NM_031960		Approved	KAP4.8	uc010wfo.2	Q9BYQ9	OTTHUMG00000133580	ENST00000333822.4:c.300C>T	17.37:g.39254037G>A							p.C100C	NM_031960.2	NP_114166.1	Q9BYQ9	KRA48_HUMAN			1	356	-			100			25 X 5 AA repeats of C-C-[IKRQVHEC]- [SPRT]-[STCVQPR].		A8MSH3	Silent	SNP	ENST00000333822.4	37	c.300C>T	CCDS45674.1																																																																																				0.662	KRTAP4-8-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257684.1	NM_031960		3	16	0	0	0	1	0	3	16					A	39254037	G	A	39254037	2	1	407	1	0	0	0	0	0	0	0	1	8556	1195	42	3		3	KRTAP4-8	17	39254037	Silent	SNP	G	TCGA-VN-A88R-01A-11D-A364-08	1381476	39254037	41941173	26	19809											
SPOP	8405	broad.mit.edu	37	chr17	47696450	47696450	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccagtctttgccttgcacaaAcctatatgcccgttgactct	8	13	6	14	1	2	1	0	1	2	0	2	1	2	1	4	0	4	2	4	0	3	5			TCGA-VN-A88R-01A-11D-A364-08	TCGA-VN-A88R-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d624f520-0cf2-479f-a434-493117b54ed0	f3aa6d62-dfca-43e4-8c16-a07c4a3ad3e9	g.chr17:47696450A>G	ENST00000393328.2	-	6	738	c.373T>C	c.(373-375)Ttt>Ctt	p.F125L	SPOP_ENST00000503676.1_Missense_Mutation_p.F125L|SPOP_ENST00000393331.3_Missense_Mutation_p.F125L|SPOP_ENST00000504102.1_Missense_Mutation_p.F125L|SPOP_ENST00000347630.2_Missense_Mutation_p.F125L|SPOP_ENST00000513080.1_5'Flank	NM_003563.3	NP_003554.1	O43791	SPOP_HUMAN	speckle-type POZ protein	125	Important for binding substrate proteins.|MATH. {ECO:0000255|PROSITE- ProRule:PRU00129}.|Required for nuclear localization.				glucose homeostasis (GO:0042593)|positive regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902237)|positive regulation of type B pancreatic cell apoptotic process (GO:2000676)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	Cul3-RING ubiquitin ligase complex (GO:0031463)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	ubiquitin protein ligase binding (GO:0031625)	p.F125V(1)		endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						CCTTGCACAAACCTATATGCC	0.433										Prostate(2;0.17)																												ENST00000393331.3																			1	Substitution - Missense(1)	p.F125V(1)	prostate(1)	endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						c.(373-375)Ttt>Ctt		speckle-type POZ protein							120	123	122					17																	47696450		2203	4300	6503	SO:0001583	missense	8405				mRNA processing	nucleus	protein binding	g.chr17:47696450A>G	AJ000644	CCDS11551.1	17q21.33	2013-01-09			ENSG00000121067	ENSG00000121067		"BTB/POZ domain containing"	11254	protein-coding gene	gene with protein product		602650				9414087	Standard	NM_001007227		Approved	TEF2, BTBD32	uc002ipg.3	O43791	OTTHUMG00000161496	ENST00000393328.2:c.373T>C	17.37:g.47696450A>G	ENSP00000377001:p.Phe125Leu	Prostate(2;0.17)				SPOP_ENST00000503676.1_Missense_Mutation_p.F125L|SPOP_ENST00000393328.2_Missense_Mutation_p.F125L|SPOP_ENST00000504102.1_Missense_Mutation_p.F125L|SPOP_ENST00000347630.2_Missense_Mutation_p.F125L	p.F125L	NM_001007226.1|NM_001007227.1	NP_001007227.1|NP_001007228.1	O43791	SPOP_HUMAN			7	843	-			125			MATH.|Required for nuclear localization.		B2R6S3|D3DTW7|Q53HJ1	Missense_Mutation	SNP	ENST00000393328.2	37	c.373T>C	CCDS11551.1	.	.	.	.	.	.	.	.	.	.	A	33	5.252129	0.95336	.	.	ENSG00000121067	ENST00000393328;ENST00000393331;ENST00000347630;ENST00000504102;ENST00000503536;ENST00000503676;ENST00000513872;ENST00000509079;ENST00000505581;ENST00000507970;ENST00000514121	T;T;T;T;T;T;T;T;T	0.58358	0.34;0.34;0.34;0.34;0.34;0.34;0.34;0.34;0.34	5.41	5.41	0.78517	TRAF-type (1);TRAF-like (1);MATH (3);	0.000000	0.85682	D	0.000000	T	0.73598	0.3607	M	0.79805	2.47	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.76358	-0.2988	10	0.52906	T	0.07	-15.9789	15.258	0.73599	1.0:0.0:0.0:0.0	.	125	O43791	SPOP_HUMAN	L	125;125;125;125;9;125;78;125;125;125;125	ENSP00000377001:F125L;ENSP00000377004:F125L;ENSP00000240327:F125L;ENSP00000425905:F125L;ENSP00000420908:F125L;ENSP00000426986:F125L;ENSP00000420960:F125L;ENSP00000426262:F125L;ENSP00000424119:F125L	ENSP00000240327:F125L	F	-	1	0	SPOP	45051449	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.131000	0.94446	2.261000	0.74972	0.460000	0.39030	TTT		0.433	SPOP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365154.2	NM_003563		36	46	0	0	0	1	0	36	46					G	47696450	A	G	47696450	3	3	407	1	0	0	0	0	1	0	0	0	15083	43	2	4	775	4	SPOP	17	47696450	Missense_Mutation	SNP	A	TCGA-VN-A88R-01A-11D-A364-08	8442413	47696450	33498760	27	19810											
HIPK4	147746	broad.mit.edu	37	chr19	40890039	40890039	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaatgctggcggatccgaagTcaatcacctgtcgggggtgg	9	8	15	9	3	2	0	2	0	0	0	4	2	3	1	2	5	1	1	2	5	3	0			TCGA-VN-A88R-01A-11D-A364-08	TCGA-VN-A88R-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d624f520-0cf2-479f-a434-493117b54ed0	f3aa6d62-dfca-43e4-8c16-a07c4a3ad3e9	g.chr19:40890039T>G	ENST00000291823.2	-	2	757	c.473A>C	c.(472-474)gAc>gCc	p.D158A		NM_144685.3	NP_653286.2	Q8NE63	HIPK4_HUMAN	homeodomain interacting protein kinase 4	158	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				histone phosphorylation (GO:0016572)|peptidyl-serine phosphorylation (GO:0018105)|protein autophosphorylation (GO:0046777)|regulation of signal transduction by p53 class mediator (GO:1901796)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(5)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	20			Lung(22;4.95e-05)|LUSC - Lung squamous cell carcinoma(20;0.000292)			GGATCCGAAGTCAATCACCTG	0.637																																						ENST00000291823.2																			0				breast(1)|endometrium(5)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	20						c.(472-474)gAc>gCc		homeodomain interacting protein kinase 4							48	51	50					19																	40890039		2203	4300	6503	SO:0001583	missense	147746					cytoplasm	ATP binding|protein serine/threonine kinase activity	g.chr19:40890039T>G	BC034501	CCDS12555.1	19q13.2	2008-02-05				ENSG00000160396			19007	protein-coding gene	gene with protein product		611712					Standard	NM_144685		Approved	FLJ32818	uc002onp.3	Q8NE63		ENST00000291823.2:c.473A>C	19.37:g.40890039T>G	ENSP00000291823:p.Asp158Ala						p.D158A	NM_144685.3	NP_653286.2	Q8NE63	HIPK4_HUMAN	Lung(22;4.95e-05)|LUSC - Lung squamous cell carcinoma(20;0.000292)		2	757	-			158			Protein kinase.		A8K863|Q96M54	Missense_Mutation	SNP	ENST00000291823.2	37	c.473A>C	CCDS12555.1	.	.	.	.	.	.	.	.	.	.	T	15.17	2.753801	0.49362	.	.	ENSG00000160396	ENST00000291823;ENST00000452139	D	0.93019	-3.15	5.84	5.84	0.93424	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	D	0.000013	D	0.98264	0.9425	H	0.99740	4.74	0.38537	D	0.949127	D	0.64830	0.994	D	0.67103	0.949	D	0.99934	1.1347	10	0.87932	D	0	.	13.7399	0.62840	0.0:0.0:0.0:1.0	.	158	Q8NE63	HIPK4_HUMAN	A	158;123	ENSP00000291823:D158A	ENSP00000291823:D158A	D	-	2	0	HIPK4	45581879	1.000000	0.71417	1.000000	0.80357	0.237000	0.25408	4.398000	0.59697	2.234000	0.73211	0.460000	0.39030	GAC		0.637	HIPK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462593.1	NM_144685		15	26	0	0	0	1	0	15	26					G	40890039	T	G	40890039	3	3	407	1	0	0	0	0	1	0	0	0	7119	1667	58	5	1389	5	HIPK4	19	40890039	Missense_Mutation	SNP	T	TCGA-VN-A88R-01A-11D-A364-08		40890039	18238944	28	19811											
PSG3	5671	broad.mit.edu	37	chr19	43237164	43237164	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	taagctcacagcctccatgtCctccctggggtataagttgc	8	11	9	13	0	1	0	1	0	0	0	4	0	4	0	4	2	3	3	4	2	3	4			TCGA-VN-A88R-01A-11D-A364-08	TCGA-VN-A88R-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d624f520-0cf2-479f-a434-493117b54ed0	f3aa6d62-dfca-43e4-8c16-a07c4a3ad3e9	g.chr19:43237164C>T	ENST00000327495.5	-	3	665	c.481G>A	c.(481-483)Gac>Aac	p.D161N	PSG3_ENST00000595140.1_Missense_Mutation_p.D161N|PSG3_ENST00000490592.1_5'Flank	NM_021016.3	NP_066296.2	Q16557	PSG3_HUMAN	pregnancy specific beta-1-glycoprotein 3	161	Ig-like C2-type 1.				defense response (GO:0006952)|female pregnancy (GO:0007565)	extracellular region (GO:0005576)		p.D161N(1)		central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36		Prostate(69;0.00682)				GCCTCCATGTCCTCCCTGGGG	0.537																																						ENST00000327495.5																			1	Substitution - Missense(1)	p.D161N(1)	ovary(1)	central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36						c.(481-483)Gac>Aac		pregnancy specific beta-1-glycoprotein 3							204	200	201					19																	43237164		2203	4300	6503	SO:0001583	missense	5671				defense response|female pregnancy	extracellular region		g.chr19:43237164C>T		CCDS12611.1	19q13.2	2013-01-29			ENSG00000221826	ENSG00000221826		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	9520	protein-coding gene	gene with protein product		176392				2341148	Standard	NM_021016		Approved		uc002oue.3	Q16557	OTTHUMG00000151120	ENST00000327495.5:c.481G>A	19.37:g.43237164C>T	ENSP00000332215:p.Asp161Asn					PSG3_ENST00000595140.1_Missense_Mutation_p.D161N	p.D161N	NM_021016.3	NP_066296.2	Q16557	PSG3_HUMAN			3	665	-		Prostate(69;0.00682)	161			Ig-like C2-type 1.		Q08265|Q9BRW2|Q9UPL4|Q9UQ77	Missense_Mutation	SNP	ENST00000327495.5	37	c.481G>A	CCDS12611.1	.	.	.	.	.	.	.	.	.	.	-	0.009	-1.858444	0.00558	.	.	ENSG00000221826	ENST00000327495	T	0.12569	2.67	1.59	-3.18	0.05186	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.03915	0.0110	N	0.05158	-0.105	0.09310	N	1	B;B	0.10296	0.003;0.001	B;B	0.13407	0.007;0.009	T	0.39981	-0.9587	9	0.02654	T	1	.	3.1133	0.06366	0.0:0.2745:0.3381:0.3874	.	139;161	Q08266;Q16557	.;PSG3_HUMAN	N	161	ENSP00000332215:D161N	ENSP00000332215:D161N	D	-	1	0	PSG3	47929004	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-1.478000	0.02329	-0.880000	0.03997	0.393000	0.25936	GAC		0.537	PSG3-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321423.2	NM_021016		4	126	0	0	0	1	0	4	126					T	43237164	C	T	43237164	3	4	407	1	0	0	0	0	1	0	0	0	12656	855	30	3	821	3	PSG3	19	43237164	Missense_Mutation	SNP	C	TCGA-VN-A88R-01A-11D-A364-08	2347125	43237164	15891819	29	19812											
C20orf194	25943	broad.mit.edu	37	chr20	3274852	3274852	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagcacaggaagatgggtcCgcatcacaggctcctggcta	10	6	13	12	1	1	1	1	0	0	1	3	2	3	2	2	4	1	5	2	4	2	1	rs149733245	byFrequency	TCGA-VN-A88R-01A-11D-A364-08	TCGA-VN-A88R-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d624f520-0cf2-479f-a434-493117b54ed0	f3aa6d62-dfca-43e4-8c16-a07c4a3ad3e9	g.chr20:3274852C>T	ENST00000252032.9	-	25	2238	c.2171G>A	c.(2170-2172)cGg>cAg	p.R724Q	C20orf194_ENST00000453730.2_Missense_Mutation_p.R462Q|C20orf194_ENST00000498079.1_5'Flank	NM_001009984.2	NP_001009984.1	Q5TEA3	CT194_HUMAN	chromosome 20 open reading frame 194	724										NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(15)|prostate(2)|skin(1)	39						AAGATGGGTCCGCATCACAGG	0.468													C|||	24	0.00479233	0.0174	0.0014	5008	,	,		18578	0		0	False		,,,				2504	0					ENST00000252032.9																			0				NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(15)|prostate(2)|skin(1)	39						c.(2170-2172)cGg>cAg		chromosome 20 open reading frame 194		C	GLN/ARG	36,3828		0,36,1896	77	72	74		2171	5.6	0.8	20	dbSNP_134	74	1,8303		0,1,4151	yes	missense	C20orf194	NM_001009984.1	43	0,37,6047	TT,TC,CC		0.012,0.9317,0.3041	benign	724/1178	3274852	37,12131	1932	4152	6084	SO:0001583	missense	25943							g.chr20:3274852C>T	AL110249	CCDS42851.1	20p13	2012-10-30			ENSG00000088854	ENSG00000088854			17721	protein-coding gene	gene with protein product		614146					Standard	NM_001009984		Approved	DKFZp434N061	uc002wii.3	Q5TEA3	OTTHUMG00000031742	ENST00000252032.9:c.2171G>A	20.37:g.3274852C>T	ENSP00000252032:p.Arg724Gln					C20orf194_ENST00000453730.2_Missense_Mutation_p.R462Q	p.R724Q	NM_001009984.2	NP_001009984.1	Q5TEA3	CT194_HUMAN			25	2238	-			724					Q66K86|Q6P2R9|Q9UFX9	Missense_Mutation	SNP	ENST00000252032.9	37	c.2171G>A	CCDS42851.1	4	0.0018315018315018315	3	0.006097560975609756	1	0.0027624309392265192	0	0.0	0	0.0	C	14.24	2.477158	0.44044	0.009317	1.2E-4	ENSG00000088854	ENST00000252032;ENST00000453730	T;T	0.32023	2.24;1.47	5.61	5.61	0.85477	.	0.361309	0.30285	N	0.009972	T	0.25827	0.0629	L	0.41236	1.265	0.37919	D	0.931626	D;D	0.60160	0.987;0.987	P;P	0.47891	0.56;0.56	T	0.04946	-1.0916	10	0.32370	T	0.25	.	16.5486	0.84457	0.0:1.0:0.0:0.0	.	463;724	Q0IIP3;Q5TEA3	.;CT194_HUMAN	Q	724;462	ENSP00000252032:R724Q;ENSP00000407229:R462Q	ENSP00000252032:R724Q	R	-	2	0	C20orf194	3222852	0.961000	0.32948	0.757000	0.31301	0.089000	0.18198	2.390000	0.44416	2.651000	0.90000	0.655000	0.94253	CGG		0.468	C20orf194-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077734.1	NM_001009984		4	28	0	0	0	1	0	4	28					T	3274852	C	T	3274852	3	4	407	1	0	0	0	0	1	0	0	0	2099	652	23	2	1414	2	C20orf194	20	3274852	Missense_Mutation	SNP	C	TCGA-VN-A88R-01A-11D-A364-08		3274852	59750668	30	19813											
ELF4	2000	broad.mit.edu	37	chrX	129208569	129208569	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aacagacctgtcagcaaaaaActgccttccaggatctgatc	14	8	7	12	0	2	2	1	1	1	1	4	3	3	3	3	1	4	1	3	1	4	1			TCGA-VN-A88R-01A-11D-A364-08	TCGA-VN-A88R-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d624f520-0cf2-479f-a434-493117b54ed0	f3aa6d62-dfca-43e4-8c16-a07c4a3ad3e9	g.chrX:129208569A>C	ENST00000308167.5	-	3	613	c.234T>G	c.(232-234)agT>agG	p.S78R	ELF4_ENST00000335997.7_Missense_Mutation_p.S78R	NM_001421.3	NP_001412.1			E74-like factor 4 (ets domain transcription factor)											breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	22						TCAGCAAAAAACTGCCTTCCA	0.517			T	ERG	AML																																	ENST00000308167.5				Dom	yes		X	Xq26	2000	T	E74-like factor 4 (ets domain transcription factor)			L	ERG		AML		0				breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	22						c.(232-234)agT>agG		E74-like factor 4 (ets domain transcription factor)							145	105	119					X																	129208569		2203	4300	6503	SO:0001583	missense	2000				natural killer cell proliferation|NK T cell proliferation|positive regulation of transcription from RNA polymerase II promoter	PML body	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chrX:129208569A>C	U32645	CCDS14617.1	Xq26	2014-09-17			ENSG00000102034	ENSG00000102034			3319	protein-coding gene	gene with protein product		300775				8895518	Standard	NM_001421		Approved	MEF, ELFR	uc004eve.4	Q99607	OTTHUMG00000022390	ENST00000308167.5:c.234T>G	X.37:g.129208569A>C	ENSP00000311280:p.Ser78Arg					ELF4_ENST00000335997.7_Missense_Mutation_p.S78R	p.S78R	NM_001421.3	NP_001412.1	Q99607	ELF4_HUMAN			3	613	-			78						Missense_Mutation	SNP	ENST00000308167.5	37	c.234T>G	CCDS14617.1	.	.	.	.	.	.	.	.	.	.	A	17.28	3.349300	0.61183	.	.	ENSG00000102034	ENST00000335997;ENST00000308167;ENST00000434609	T;T;T	0.44482	0.92;0.92;0.92	5.71	-4.42	0.03579	.	0.337981	0.33610	N	0.004738	T	0.29491	0.0735	N	0.22421	0.69	0.22266	N	0.99924	P	0.41643	0.758	P	0.50162	0.633	T	0.28364	-1.0046	10	0.49607	T	0.09	.	4.7178	0.12903	0.1801:0.1591:0.528:0.1327	.	78	Q99607	ELF4_HUMAN	R	78;78;60	ENSP00000338608:S78R;ENSP00000311280:S78R;ENSP00000407572:S60R	ENSP00000311280:S78R	S	-	3	2	ELF4	129036250	0.201000	0.23410	0.770000	0.31555	0.908000	0.53690	-0.308000	0.08156	-0.942000	0.03695	-0.360000	0.07572	AGT		0.517	ELF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058243.1	NM_001421		23	5	0	0	0	1	0	23	5					C	129208569	A	C	129208569	3	2	407	1	0	0	0	0	1	0	0	0	5056	40	2	5	1785	5	ELF4	23	129208569	Missense_Mutation	SNP	A	TCGA-VN-A88R-01A-11D-A364-08		129208569	26061991	31	19814											
EIF2C3	192669	broad.mit.edu	37	chr1	36474313	36474313	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttgaaggttgaagtgactcaTtgtggaacaatgagacggaa	14	10	13	4	1	1	4	1	4	0	1	1	7	1	6	0	3	1	1	0	3	5	3			TCGA-VN-A943-01A-11D-A41K-08	TCGA-VN-A943-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1befde85-bf60-46a5-88b0-f6319b14a2fe	ac89aa0d-1731-4467-9eb3-57726a089b7f	g.chr1:36474313T>C	ENST00000373191.4	+	7	1165	c.816T>C	c.(814-816)caT>caC	p.H272H	RP4-665N4.8_ENST00000479395.2_RNA|RP4-665N4.8_ENST00000466576.2_RNA|AGO3_ENST00000246314.6_Silent_p.H38H	NM_024852.3	NP_079128.2	Q9H9G7	AGO3_HUMAN	argonaute RISC catalytic component 3	272	PAZ. {ECO:0000255|HAMAP-Rule:MF_03032}.				epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|mRNA catabolic process (GO:0006402)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)|regulation of stem cell proliferation (GO:0072091)	cytosol (GO:0005829)|membrane (GO:0016020)|micro-ribonucleoprotein complex (GO:0035068)|RISC complex (GO:0016442)	miRNA binding (GO:0035198)|poly(A) RNA binding (GO:0044822)										AAGTGACTCATTGTGGAACAA	0.398																																						ENST00000373191.4																			0											c.(814-816)caT>caC		argonaute RISC catalytic component 3							72	75	74					1																	36474313		2203	4300	6503	SO:0001819	synonymous_variant	192669							g.chr1:36474313T>C	AB046787	CCDS399.1, CCDS400.1	1p34	2013-06-03	2013-02-15	2013-02-15	ENSG00000126070	ENSG00000126070		"Argonaute/PIWI family"	18421	protein-coding gene	gene with protein product	"argonaute 3"	607355	"eukaryotic translation initiation factor 2C, 3"	EIF2C3		12906857	Standard	NM_024852		Approved	hAGO3, FLJ12765	uc001bzp.3	Q9H9G7	OTTHUMG00000184172	ENST00000373191.4:c.816T>C	1.37:g.36474313T>C						AGO3_ENST00000246314.6_Silent_p.H38H|RP4-665N4.8_ENST00000466576.2_RNA	p.H272H	NM_024852.3	NP_079128.2					7	1165	+								B1ALI0|Q5TA55|Q9H1U6	Silent	SNP	ENST00000373191.4	37	c.816T>C	CCDS399.1																																																																																				0.398	AGO3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019831.4	NM_024852		4	65	0	0	0	1	0	4	65					C	36474313	T	C	36474313	2	2	408	1	0	0	0	0	0	0	0	1	5007	1490	52	4		4	EIF2C3	1	36474313	Silent	SNP	T	TCGA-VN-A943-01A-11D-A41K-08		36474313	212776308	1	19815											
MACF1	23499	broad.mit.edu	37	chr1	39753017	39753017	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agagtgtacaaacctgtaccGgaagggtcatttcacttcac	12	10	9	10	1	3	1	3	0	0	1	3	2	3	2	2	2	3	2	2	2	4	4			TCGA-VN-A943-01A-11D-A41K-08	TCGA-VN-A943-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1befde85-bf60-46a5-88b0-f6319b14a2fe	ac89aa0d-1731-4467-9eb3-57726a089b7f	g.chr1:39753017G>A	ENST00000372915.3	+	14	1670	c.1583G>A	c.(1582-1584)cGg>cAg	p.R528Q	MACF1_ENST00000539005.1_Missense_Mutation_p.R528Q|MACF1_ENST00000317713.7_Missense_Mutation_p.R528Q|MACF1_ENST00000545844.1_Missense_Mutation_p.R528Q|MACF1_ENST00000564288.1_Missense_Mutation_p.R523Q|MACF1_ENST00000361689.2_Missense_Mutation_p.R528Q|MACF1_ENST00000567887.1_Missense_Mutation_p.R560Q			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	528					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			AACCTGTACCGGAAGGGTCAT	0.438																																						ENST00000564288.1																			0				breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203						c.(1567-1569)cGg>cAg		microtubule-actin crosslinking factor 1							190	167	175					1																	39753017		2203	4300	6503	SO:0001583	missense	23499				cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding	g.chr1:39753017G>A	AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"EF-hand domain containing"	13664	protein-coding gene	gene with protein product	"actin cross-linking factor", "620 kDa actin binding protein", "macrophin 1", "trabeculin-alpha", "actin cross-linking family protein 7"	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.1583G>A	1.37:g.39753017G>A	ENSP00000362006:p.Arg528Gln					MACF1_ENST00000545844.1_Missense_Mutation_p.R528Q|MACF1_ENST00000361689.2_Missense_Mutation_p.R528Q|MACF1_ENST00000539005.1_Missense_Mutation_p.R528Q|MACF1_ENST00000567887.1_Missense_Mutation_p.R560Q|MACF1_ENST00000372915.3_Missense_Mutation_p.R528Q|MACF1_ENST00000317713.7_Missense_Mutation_p.R528Q	p.R523Q			Q9UPN3	MACF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)		15	2345	+	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	528					B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Missense_Mutation	SNP	ENST00000372915.3	37	c.1568G>A		.	.	.	.	.	.	.	.	.	.	G	25.4	4.637340	0.87760	.	.	ENSG00000127603	ENST00000545844;ENST00000372915;ENST00000361689;ENST00000317713;ENST00000539005;ENST00000524432;ENST00000530262;ENST00000372900	D;D;D;D;D;D;D	0.93859	-3.3;-3.3;-3.3;-3.3;-3.3;-3.3;-3.3	5.52	5.52	0.82312	.	.	.	.	.	D	0.89887	0.6845	L	0.39898	1.24	0.80722	D	1	B;B	0.29232	0.238;0.002	B;B	0.16722	0.016;0.003	D	0.86378	0.1727	9	0.29301	T	0.29	.	19.8311	0.96636	0.0:0.0:1.0:0.0	.	528;493	F8W8Q1;Q9UPN3-3	.;.	Q	528;528;528;528;528;486;677;688	ENSP00000439537:R528Q;ENSP00000362006:R528Q;ENSP00000354573:R528Q;ENSP00000313438:R528Q;ENSP00000444364:R528Q;ENSP00000435070:R486Q;ENSP00000437059:R677Q	ENSP00000313438:R528Q	R	+	2	0	MACF1	39525604	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	9.242000	0.95408	2.773000	0.95371	0.655000	0.94253	CGG		0.438	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1	NM_033044		4	137	0	0	0	1	0	4	137					A	39753017	G	A	39753017	3	1	408	1	0	0	0	0	1	0	0	0	9144	1116	39	2	1637	2	MACF1	1	39753017	Missense_Mutation	SNP	G	TCGA-VN-A943-01A-11D-A41K-08	3278704	39753017	209497604	2	19816											
MFSD2A	84879	broad.mit.edu	37	chr1	40432806	40432806	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcacctacaccttgggcttcCgcaatgaattccagaatcta	11	10	7	13	1	1	2	0	1	1	1	3	2	3	2	4	1	1	3	4	1	5	5			TCGA-VN-A943-01A-11D-A41K-08	TCGA-VN-A943-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1befde85-bf60-46a5-88b0-f6319b14a2fe	ac89aa0d-1731-4467-9eb3-57726a089b7f	g.chr1:40432806C>T	ENST00000372809.5	+	9	1158	c.1015C>T	c.(1015-1017)Cgc>Tgc	p.R339C	MFSD2A_ENST00000480630.1_Intron|MFSD2A_ENST00000372811.5_Missense_Mutation_p.R326C|MFSD2A_ENST00000420632.2_Missense_Mutation_p.R170C	NM_001136493.1	NP_001129965.1	Q8NA29	NLS1_HUMAN	major facilitator superfamily domain containing 2A	339					establishment of blood-brain barrier (GO:0060856)|fatty acid transport (GO:0015908)|lipid transport across blood brain barrier (GO:1990379)|transcytosis (GO:0045056)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	phospholipid transporter activity (GO:0005548)|symporter activity (GO:0015293)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	24						CTTGGGCTTCCGCAATGAATT	0.552																																						ENST00000372809.5																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	24						c.(1015-1017)Cgc>Tgc		major facilitator superfamily domain containing 2A							108	91	97					1																	40432806		2203	4300	6503	SO:0001583	missense	84879				transmembrane transport	endoplasmic reticulum membrane|integral to membrane		g.chr1:40432806C>T	AK093223	CCDS446.1, CCDS44118.1, CCDS72762.1	1p34.2	2009-09-08	2009-09-08	2009-09-08	ENSG00000168389	ENSG00000168389			25897	protein-coding gene	gene with protein product		614397	"major facilitator superfamily domain containing 2"	MFSD2		18694395	Standard	XM_005271285		Approved	FLJ14490	uc001cev.3	Q8NA29	OTTHUMG00000009293	ENST00000372809.5:c.1015C>T	1.37:g.40432806C>T	ENSP00000361895:p.Arg339Cys					MFSD2A_ENST00000420632.2_Missense_Mutation_p.R170C|MFSD2A_ENST00000372811.5_Missense_Mutation_p.R326C|MFSD2A_ENST00000480630.1_Intron	p.R339C	NM_001136493.1	NP_001129965.1	Q8NA29	MFS2A_HUMAN			9	1158	+			339					A8K675|Q6UWU5|Q96F59|Q9BRC8	Missense_Mutation	SNP	ENST00000372809.5	37	c.1015C>T	CCDS44118.1	.	.	.	.	.	.	.	.	.	.	C	24.9	4.577045	0.86645	.	.	ENSG00000168389	ENST00000372811;ENST00000420632;ENST00000372809	D;D;D	0.87729	-2.29;-2.29;-2.29	5.52	5.52	0.82312	Major facilitator superfamily domain, general substrate transporter (1);	0.000000	0.85682	D	0.000000	D	0.93337	0.7876	M	0.73598	2.24	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.985;0.967	D	0.93257	0.6640	10	0.59425	D	0.04	-11.4893	18.3749	0.90432	0.0:1.0:0.0:0.0	.	287;339;326	B4DNN7;Q8NA29;Q8NA29-2	.;MFS2A_HUMAN;.	C	326;170;339	ENSP00000361898:R326C;ENSP00000391261:R170C;ENSP00000361895:R339C	ENSP00000361895:R339C	R	+	1	0	MFSD2A	40205393	1.000000	0.71417	0.996000	0.52242	0.994000	0.84299	6.282000	0.72639	2.756000	0.94617	0.563000	0.77884	CGC		0.552	MFSD2A-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000025756.1	NM_032793		4	49	0	0	0	1	0	4	49					T	40432806	C	T	40432806	3	4	408	1	0	0	0	0	1	0	0	0	9530	652	23	2	1049	2	MFSD2A	1	40432806	Missense_Mutation	SNP	C	TCGA-VN-A943-01A-11D-A41K-08	679789	40432806	208817815	3	19817											
XCL2	6846	broad.mit.edu	37	chr1	168510202	168510202	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	agagactactagccagtcagGgtcacagctgtattggtcga	11	9	12	9	1	2	1	2	0	0	1	3	3	2	1	1	2	3	2	1	2	3	4	rs149372418	byFrequency	TCGA-VN-A943-01A-11D-A41K-08	TCGA-VN-A943-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1befde85-bf60-46a5-88b0-f6319b14a2fe	ac89aa0d-1731-4467-9eb3-57726a089b7f	g.chr1:168510202G>A	ENST00000367819.2	-	3	365	c.333C>T	c.(331-333)acC>acT	p.T111T		NM_003175.3	NP_003166.1	Q9UBD3	XCL2_HUMAN	chemokine (C motif) ligand 2	111					blood circulation (GO:0008015)|cell chemotaxis (GO:0060326)|immune response (GO:0006955)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	chemokine activity (GO:0008009)	p.T111T(1)		large_intestine(1)|lung(6)|ovary(1)	8	all_hematologic(923;0.215)					AGCCAGTCAGGGTCACAGCTG	0.498													G|||	2	0.000399361	0	0	5008	,	,		15935	0.001		0	False		,,,				2504	0.001					ENST00000367819.2																			1	Substitution - coding silent(1)	p.T111T(1)	lung(1)	large_intestine(1)|lung(6)|ovary(1)	8						c.(331-333)acC>acT		chemokine (C motif) ligand 2		G		1,4405		0,1,2202	299	234	256		333	1.4	0.2	1	dbSNP_134	256	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	XCL2	NM_003175.3		0,3,6500	AA,AG,GG		0.0233,0.0227,0.0231		111/115	168510202	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	6846				blood circulation|chemotaxis|immune response|signal transduction	extracellular space	chemokine activity	g.chr1:168510202G>A	BC070309	CCDS1273.1	1q24.2	2013-02-28	2002-08-22	2002-08-23	ENSG00000143185	ENSG00000143185		"Endogenous ligands"	10646	protein-coding gene	gene with protein product		604828	"small inducible cytokine subfamily C, member 2"	SCYC2		7875320	Standard	NM_003175		Approved	SCM-1b	uc001gfn.4	Q9UBD3	OTTHUMG00000034549	ENST00000367819.2:c.333C>T	1.37:g.168510202G>A							p.T111T	NM_003175.3	NP_003166.1	Q9UBD3	XCL2_HUMAN			3	365	-	all_hematologic(923;0.215)		111						Silent	SNP	ENST00000367819.2	37	c.333C>T	CCDS1273.1																																																																																				0.498	XCL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083613.1	NM_003175		3	38	0	0	0	1	0	3	38					A	168510202	G	A	168510202	2	1	408	1	0	0	0	0	0	0	0	1	17421	1219	43	3		3	XCL2	1	168510202	Silent	SNP	G	TCGA-VN-A943-01A-11D-A41K-08	128077396	168510202	80740419	4	19818											
KCNH1	3756	broad.mit.edu	37	chr1	211093037	211093037	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcaatgtctgtggatggggcGatgttcccaaagcccacact	9	10	11	11	1	2	0	1	0	1	0	3	2	3	1	2	3	1	1	2	3	2	1			TCGA-VN-A943-01A-11D-A41K-08	TCGA-VN-A943-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1befde85-bf60-46a5-88b0-f6319b14a2fe	ac89aa0d-1731-4467-9eb3-57726a089b7f	g.chr1:211093037G>A	ENST00000271751.4	-	7	1434	c.1407C>T	c.(1405-1407)atC>atT	p.I469I	KCNH1_ENST00000367007.4_Silent_p.I442I			O95259	KCNH1_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 1	469					myoblast fusion (GO:0007520)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	nucleus (GO:0005634)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|phosphorelay sensor kinase activity (GO:0000155)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|lung(35)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185)		TGGATGGGGCGATGTTCCCAA	0.507																																						ENST00000367007.4																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|lung(35)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	68						c.(1324-1326)atC>atT		potassium voltage-gated channel, subfamily H (eag-related), member 1							166	157	160					1																	211093037		2203	4300	6503	SO:0001819	synonymous_variant	3756				myoblast fusion|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	calmodulin binding|delayed rectifier potassium channel activity|two-component sensor activity	g.chr1:211093037G>A	AJ001366	CCDS1496.1, CCDS31015.1	1q32.2	2012-07-05			ENSG00000143473	ENSG00000143473		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6250	protein-coding gene	gene with protein product		603305				9738473, 16382104	Standard	NM_172362		Approved	Kv10.1, eag, h-eag, eag1	uc001hib.2	O95259	OTTHUMG00000036309	ENST00000271751.4:c.1407C>T	1.37:g.211093037G>A						KCNH1_ENST00000271751.4_Silent_p.I469I	p.I442I	NM_002238.3|NM_172362.2	NP_002229.1|NP_758872.1	O95259	KCNH1_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185)	7	1495	-			469					B1AQ26|O76035|Q14CL3	Silent	SNP	ENST00000271751.4	37	c.1326C>T	CCDS1496.1																																																																																				0.507	KCNH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088332.1	NM_002238		4	98	0	0	0	1	0	4	98					A	211093037	G	A	211093037	2	1	408	1	0	0	0	0	0	0	0	1	8031	1048	37	2		2	KCNH1	1	211093037	Silent	SNP	G	TCGA-VN-A943-01A-11D-A41K-08	42582835	211093037	38157584	5	19819											
HHIPL2	79802	broad.mit.edu	37	chr1	222713413	222713413	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacccttcctttgctctccaGccatagtttccacctttcaa	8	14	3	16	0	2	0	1	0	1	0	5	0	4	0	6	0	3	2	6	0	3	5	rs372301341		TCGA-VN-A943-01A-11D-A41K-08	TCGA-VN-A943-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1befde85-bf60-46a5-88b0-f6319b14a2fe	ac89aa0d-1731-4467-9eb3-57726a089b7f	g.chr1:222713413G>T	ENST00000343410.6	-	4	1447	c.1389C>A	c.(1387-1389)ggC>ggA	p.G463G		NM_024746.3	NP_079022.2	Q6UWX4	HIPL2_HUMAN	HHIP-like 2	463					carbohydrate metabolic process (GO:0005975)	extracellular region (GO:0005576)	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor (GO:0016901)|quinone binding (GO:0048038)			NS(2)|endometrium(8)|kidney(4)|large_intestine(7)|lung(28)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59				GBM - Glioblastoma multiforme(131;0.0185)		TTGCTCTCCAGCCATAGTTTC	0.488																																						ENST00000343410.6																			0				NS(2)|endometrium(8)|kidney(4)|large_intestine(7)|lung(28)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59						c.(1387-1389)ggC>ggA		HHIP-like 2							93	96	95					1																	222713413		2203	4300	6503	SO:0001819	synonymous_variant	79802				carbohydrate metabolic process	extracellular region	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding	g.chr1:222713413G>T	BC007638	CCDS1530.2	1q41	2008-02-05	2008-01-16	2008-01-16	ENSG00000143512	ENSG00000143512			25842	protein-coding gene	gene with protein product			"KIAA1822-like"	KIAA1822L		12975309	Standard	NM_024746		Approved	FLJ13840	uc001hnh.1	Q6UWX4	OTTHUMG00000037545	ENST00000343410.6:c.1389C>A	1.37:g.222713413G>T							p.G463G	NM_024746.3	NP_079022.2	Q6UWX4	HIPL2_HUMAN		GBM - Glioblastoma multiforme(131;0.0185)	4	1447	-			463					Q6GU65|Q96BT4|Q96BU5|Q9H8A0	Silent	SNP	ENST00000343410.6	37	c.1389C>A	CCDS1530.2																																																																																				0.488	HHIPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091499.2	NM_024746		5	104	1	0	1	1	1	5	104					T	222713413	G	T	222713413	2	4	408	1	0	0	0	0	0	0	0	1	7094	958	34	5		5	HHIPL2	1	222713413	Silent	SNP	G	TCGA-VN-A943-01A-11D-A41K-08	11620376	222713413	26537208	6	19820											
REV1	51455	broad.mit.edu	37	chr2	100020239	100020239	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgctgctttcagctccctctGaagttcagcaggaagggcag	8	9	12	12	1	3	1	2	1	1	0	4	2	4	2	1	2	3	6	1	2	2	2			TCGA-VN-A943-01A-11D-A41K-08	TCGA-VN-A943-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1befde85-bf60-46a5-88b0-f6319b14a2fe	ac89aa0d-1731-4467-9eb3-57726a089b7f	g.chr2:100020239G>T	ENST00000258428.3	-	19	3313	c.3085C>A	c.(3085-3087)Cag>Aag	p.Q1029K	REV1_ENST00000465835.1_5'UTR|RP11-527J8.1_ENST00000608144.1_RNA|REV1_ENST00000393445.3_Missense_Mutation_p.Q1028K	NM_001037872.1|NM_016316.2	NP_001032961.1|NP_057400.1	Q9UBZ9	REV1_HUMAN	REV1, polymerase (DNA directed)	1029					DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA-dependent DNA replication (GO:0006261)|error-prone translesion synthesis (GO:0042276)|response to UV (GO:0009411)	nucleoplasm (GO:0005654)	damaged DNA binding (GO:0003684)|deoxycytidyl transferase activity (GO:0017125)|DNA-directed DNA polymerase activity (GO:0003887)|magnesium ion binding (GO:0000287)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(14)|lung(12)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						AGCTCCCTCTGAAGTTCAGCA	0.517								Direct reversal of damage																														ENST00000258428.3																			0				NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(14)|lung(12)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						c.(3085-3087)Cag>Aag	Direct reversal of damage	REV1, polymerase (DNA directed)							88	80	83					2																	100020239		2203	4300	6503	SO:0001583	missense	51455				DNA replication|error-prone translesion synthesis|response to UV	nucleoplasm	damaged DNA binding|DNA-directed DNA polymerase activity|magnesium ion binding|protein binding	g.chr2:100020239G>T	AF206019	CCDS2045.1, CCDS42722.1	2q11.1-q11.2	2012-05-18	2012-05-18	2006-11-07	ENSG00000135945	ENSG00000135945		"DNA polymerases"	14060	protein-coding gene	gene with protein product		606134	"REV1 (yeast homolog)- like", "REV1-like (yeast)", "REV1 homolog (S. cerevisiae)"	REV1L		10536157	Standard	XM_005263968		Approved		uc002tad.3	Q9UBZ9	OTTHUMG00000130636	ENST00000258428.3:c.3085C>A	2.37:g.100020239G>T	ENSP00000258428:p.Gln1029Lys					REV1_ENST00000393445.3_Missense_Mutation_p.Q1028K|REV1_ENST00000465835.1_5'UTR	p.Q1029K	NM_001037872.1|NM_016316.2	NP_001032961.1|NP_057400.1	Q9UBZ9	REV1_HUMAN			19	3313	-			1029					O95941|Q53SI7|Q9C0J4|Q9NUP2	Missense_Mutation	SNP	ENST00000258428.3	37	c.3085C>A	CCDS2045.1	.	.	.	.	.	.	.	.	.	.	G	28.3	4.905016	0.92035	.	.	ENSG00000135945	ENST00000393445;ENST00000258428	T;T	0.31510	1.51;1.49	6.05	6.05	0.98169	.	0.000000	0.85682	D	0.000000	T	0.58736	0.2143	M	0.74881	2.28	0.80722	D	1	D;D	0.76494	0.993;0.999	D;D	0.85130	0.952;0.997	T	0.49551	-0.8928	10	0.33940	T	0.23	.	20.6013	0.99457	0.0:0.0:1.0:0.0	.	1029;1028	Q9UBZ9;Q9UBZ9-2	REV1_HUMAN;.	K	1028;1029	ENSP00000377091:Q1028K;ENSP00000258428:Q1029K	ENSP00000258428:Q1029K	Q	-	1	0	REV1	99386671	1.000000	0.71417	0.995000	0.50966	0.972000	0.66771	8.321000	0.89997	2.878000	0.98634	0.650000	0.86243	CAG		0.517	REV1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253123.2	NM_016316		16	39	1	0	0.00400662	1	0.0040901	16	39					T	100020239	G	T	100020239	3	4	408	1	0	0	0	0	1	0	0	0	13239	1299	45	5	690	5	REV1	2	100020239	Missense_Mutation	SNP	G	TCGA-VN-A943-01A-11D-A41K-08		100020239	143179134	7	19821											
SCN1A	6323	broad.mit.edu	37	chr2	166848827	166848827	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcagcgtgcggatcccctttGctcctttgatcagacgtagg	6	11	12	12	3	1	2	1	1	0	1	3	3	3	3	3	2	3	3	3	2	1	3			TCGA-VN-A943-01A-11D-A41K-08	TCGA-VN-A943-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1befde85-bf60-46a5-88b0-f6319b14a2fe	ac89aa0d-1731-4467-9eb3-57726a089b7f	g.chr2:166848827G>A	ENST00000303395.4	-	26	4957	c.4958C>T	c.(4957-4959)gCa>gTa	p.A1653V	SCN1A_ENST00000375405.3_Missense_Mutation_p.A1642V|AC010127.3_ENST00000595647.1_RNA|AC010127.3_ENST00000597623.1_RNA|SCN1A_ENST00000409050.1_Missense_Mutation_p.A1625V|SCN1A_ENST00000423058.2_Missense_Mutation_p.A1653V			P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	1653					adult walking behavior (GO:0007628)|membrane depolarization during action potential (GO:0086010)|neuromuscular process controlling posture (GO:0050884)|neuronal action potential (GO:0019228)|neuronal action potential propagation (GO:0019227)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon initial segment (GO:0043194)|intercalated disc (GO:0014704)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)|Z disc (GO:0030018)	voltage-gated sodium channel activity (GO:0005248)			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Dronedarone(DB04855)|Nitrazepam(DB01595)|Permethrin(DB04930)|Phenacemide(DB01121)|Phenazopyridine(DB01438)|Phenytoin(DB00252)|Topiramate(DB00273)|Valproic Acid(DB00313)|Zonisamide(DB00909)	GATCCCCTTTGCTCCTTTGAT	0.498																																						ENST00000423058.2																			0				NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200						c.(4957-4959)gCa>gTa		sodium channel, voltage-gated, type I, alpha subunit	Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)						112	110	111					2																	166848827		2203	4300	6503	SO:0001583	missense	6323					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:166848827G>A	AB093548	CCDS33316.1, CCDS54413.1, CCDS54414.1	2q24.3	2014-09-17	2007-01-23		ENSG00000144285	ENSG00000144285		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10585	protein-coding gene	gene with protein product		182389	"febrile convulsions 3"	SCN1, FEB3		8062593, 16382098, 11823106	Standard	NM_006920		Approved	Nav1.1, GEFSP2, HBSCI, NAC1, SMEI	uc021vsb.1	P35498	OTTHUMG00000044173	ENST00000303395.4:c.4958C>T	2.37:g.166848827G>A	ENSP00000303540:p.Ala1653Val					SCN1A_ENST00000303395.4_Missense_Mutation_p.A1653V|AC010127.3_ENST00000597623.1_RNA|AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000409050.1_Missense_Mutation_p.A1625V|SCN1A_ENST00000375405.3_Missense_Mutation_p.A1642V	p.A1653V	NM_001165963.1|NM_001202435.1	NP_001159435.1|NP_001189364.1	P35498	SCN1A_HUMAN			26	4975	-			1653					E9PG49|Q16172|Q585T7|Q8IUJ6|Q96LA3|Q9C008	Missense_Mutation	SNP	ENST00000303395.4	37	c.4958C>T	CCDS54413.1	.	.	.	.	.	.	.	.	.	.	G	31	5.069520	0.93950	.	.	ENSG00000144285	ENST00000423058;ENST00000303395;ENST00000375405;ENST00000409050	D;D;D;D	0.98345	-4.88;-4.88;-4.88;-4.88	5.27	5.27	0.74061	.	0.000000	0.64402	D	0.000015	D	0.98804	0.9597	M	0.69523	2.12	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.99898	1.1152	10	0.87932	D	0	.	18.8986	0.92433	0.0:0.0:1.0:0.0	.	1642	P35498-2	.	V	1653;1653;1642;1625	ENSP00000407030:A1653V;ENSP00000303540:A1653V;ENSP00000364554:A1642V;ENSP00000386312:A1625V	ENSP00000303540:A1653V	A	-	2	0	SCN1A	166557073	1.000000	0.71417	0.484000	0.27391	0.997000	0.91878	9.711000	0.98735	2.444000	0.82710	0.650000	0.86243	GCA		0.498	SCN1A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102661.1	NM_006920		26	47	0	0	0	1	0	26	47					A	166848827	G	A	166848827	3	1	408	1	0	0	0	0	1	0	0	0	13914	1319	46	3	1075	3	SCN1A	2	166848827	Missense_Mutation	SNP	G	TCGA-VN-A943-01A-11D-A41K-08	66828588	166848827	76350546	8	19822											
FLNB	2317	broad.mit.edu	37	chr3	58097609	58097609	+	Splice_Site	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cccagggctcagcaaagcagGtaagatggcacgtctaggtt	11	7	13	10	1	2	1	1	0	1	1	2	1	2	1	1	4	2	6	1	4	3	3			TCGA-VN-A943-01A-11D-A41K-08	TCGA-VN-A943-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1befde85-bf60-46a5-88b0-f6319b14a2fe	ac89aa0d-1731-4467-9eb3-57726a089b7f	g.chr3:58097609G>C	ENST00000295956.4	+	17	2740		c.e17+1		FLNB_ENST00000419752.2_Splice_Site|FLNB_ENST00000348383.5_Splice_Site|FLNB_ENST00000357272.4_Splice_Site|FLNB_ENST00000429972.2_Splice_Site|FLNB_ENST00000493452.1_Splice_Site|FLNB_ENST00000490882.1_Splice_Site|FLNB_ENST00000358537.3_Splice_Site	NM_001457.3	NP_001448.2	O75369	FLNB_HUMAN	filamin B, beta						actin cytoskeleton organization (GO:0030036)|cell differentiation (GO:0030154)|cytokine-mediated signaling pathway (GO:0019221)|cytoskeletal anchoring at plasma membrane (GO:0007016)|signal transduction (GO:0007165)|skeletal muscle tissue development (GO:0007519)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	actin binding (GO:0003779)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		AGCAAAGCAGGTAAGATGGCA	0.582																																						ENST00000357272.4																			0				NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120						c.e17+1		filamin B, beta							66	57	60					3																	58097609		2203	4300	6503	SO:0001630	splice_region_variant	2317				actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding	g.chr3:58097609G>C	AF043045	CCDS2885.1, CCDS54599.1, CCDS54600.1, CCDS54601.1	3p14.3	2011-02-11	2009-07-23		ENSG00000136068	ENSG00000136068			3755	protein-coding gene	gene with protein product	"actin binding protein 278"	603381	"filamin B, beta (actin binding protein 278)", "Larsen syndrome 1 (autosomal dominant)"	FLN1L, LRS1		8327473, 10449914, 14991055, 16801345	Standard	NM_001457		Approved	TAP, TABP, ABP-278, FH1	uc010hne.2	O75369	OTTHUMG00000159158	ENST00000295956.4:c.2575+1G>C	3.37:g.58097609G>C						FLNB_ENST00000295956.4_Splice_Site|FLNB_ENST00000419752.2_Splice_Site|FLNB_ENST00000429972.2_Splice_Site|FLNB_ENST00000490882.1_Splice_Site|FLNB_ENST00000358537.3_Splice_Site|FLNB_ENST00000348383.5_Splice_Site|FLNB_ENST00000493452.1_Splice_Site				O75369	FLNB_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)	17	2740	+								B2ZZ83|B2ZZ84|B2ZZ85|C9JKE6|C9JMC4|Q13706|Q59EC2|Q60FE7|Q6MZJ1|Q8WXS9|Q8WXT0|Q8WXT1|Q8WXT2|Q8WXT3|Q9NRB5|Q9NT26|Q9UEV9	Splice_Site	SNP	ENST00000295956.4	37		CCDS2885.1	.	.	.	.	.	.	.	.	.	.	G	27.0	4.787555	0.90367	.	.	ENSG00000136068	ENST00000295956;ENST00000490882;ENST00000358537;ENST00000429972;ENST00000348383;ENST00000357272;ENST00000493452;ENST00000419752	.	.	.	5.18	5.18	0.71444	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.7606	0.91849	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	FLNB	58072649	1.000000	0.71417	1.000000	0.80357	0.913000	0.54294	7.921000	0.87530	2.436000	0.82500	0.650000	0.86243	.		0.582	FLNB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000353569.1	NM_001457	Intron	5	11	0	0	0	1	0	5	11					C	58097609	G	C	58097609	5	2	408	1	0	0	0	0	0	0	1	0	5934	1275	44	5	2642	5	FLNB	3	58097609	Splice_Site	SNP	G	TCGA-VN-A943-01A-11D-A41K-08		58097609	139924821	9	19823											
LSAMP	4045	broad.mit.edu	37	chr3	115805294	115805294	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gctgtattccagagaatggcGtttctccagctcaacccgtg	8	11	10	12	2	2	1	1	0	1	1	4	2	3	1	3	1	2	4	3	1	3	3			TCGA-VN-A943-01A-11D-A41K-08	TCGA-VN-A943-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1befde85-bf60-46a5-88b0-f6319b14a2fe	ac89aa0d-1731-4467-9eb3-57726a089b7f	g.chr3:115805294G>A	ENST00000490035.2	-	2	764	c.265C>T	c.(265-267)Cgc>Tgc	p.R89C	LSAMP_ENST00000539563.1_Missense_Mutation_p.R86C	NM_002338.3	NP_002329.2	Q13449	LSAMP_HUMAN	limbic system-associated membrane protein	89	Ig-like C2-type 1.				cell adhesion (GO:0007155)|locomotory exploration behavior (GO:0035641)|nervous system development (GO:0007399)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|kidney(1)|large_intestine(4)|lung(14)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	31		all_cancers(1;0.00189)|all_epithelial(1;0.0366)|Myeloproliferative disorder(1037;0.17)|all_neural(597;0.208)|Lung NSC(201;0.215)		GBM - Glioblastoma multiforme(114;0.00117)|LUSC - Lung squamous cell carcinoma(41;0.0407)|Lung(219;0.152)		AGAGAATGGCGTTTCTCCAGC	0.507																																						ENST00000490035.1																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|kidney(1)|large_intestine(4)|lung(14)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	31						c.(265-267)Cgc>Tgc		limbic system-associated membrane protein							124	111	116					3																	115805294		2203	4300	6503	SO:0001583	missense	4045				cell adhesion|nervous system development	anchored to membrane|plasma membrane		g.chr3:115805294G>A	U41901	CCDS2982.1	3q13.2-q21	2013-01-11			ENSG00000185565	ENSG00000185565		"Immunoglobulin superfamily / I-set domain containing"	6705	protein-coding gene	gene with protein product	"IgLON family member 3"	603241				9615236	Standard	NM_002338		Approved	LAMP, IGLON3	uc003ebs.3	Q13449	OTTHUMG00000159308	ENST00000490035.2:c.265C>T	3.37:g.115805294G>A	ENSP00000419000:p.Arg89Cys					LSAMP_ENST00000539563.1_Missense_Mutation_p.R86C	p.R89C	NM_002338.3	NP_002329.2	Q13449	LSAMP_HUMAN		GBM - Glioblastoma multiforme(114;0.00117)|LUSC - Lung squamous cell carcinoma(41;0.0407)|Lung(219;0.152)	2	764	-		all_cancers(1;0.00189)|all_epithelial(1;0.0366)|Myeloproliferative disorder(1037;0.17)|all_neural(597;0.208)|Lung NSC(201;0.215)	89			Ig-like C2-type 1.		Q8IV49	Missense_Mutation	SNP	ENST00000490035.2	37	c.265C>T	CCDS2982.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.250486	0.80024	.	.	ENSG00000185565	ENST00000333617;ENST00000490035;ENST00000539563;ENST00000474851	T;T;T;T	0.68181	-0.31;-0.31;-0.31;-0.31	5.65	5.65	0.86999	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.053914	0.64402	D	0.000001	T	0.70081	0.3183	L	0.34521	1.04	0.58432	D	0.999998	D;P	0.69078	0.997;0.888	P;P	0.59595	0.761;0.86	T	0.72040	-0.4410	10	0.62326	D	0.03	-10.0134	13.8147	0.63283	0.0:0.0:0.8376:0.1623	.	89;89	B2RCU8;Q13449	.;LSAMP_HUMAN	C	73;89;86;123	ENSP00000328455:R73C;ENSP00000419000:R89C;ENSP00000443429:R86C;ENSP00000418506:R123C	ENSP00000328455:R73C	R	-	1	0	LSAMP	117287984	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	3.168000	0.50801	2.668000	0.90789	0.555000	0.69702	CGC		0.507	LSAMP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354495.4	NM_002338		24	20	0	0	0	1	0	24	20					A	115805294	G	A	115805294	3	1	408	1	0	0	0	0	1	0	0	0	9048	1145	40	1	775	1	LSAMP	3	115805294	Missense_Mutation	SNP	G	TCGA-VN-A943-01A-11D-A41K-08	57707685	115805294	82217136	10	19824											
KCNAB1	7881	broad.mit.edu	37	chr3	156009785	156009785	+	Intron	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	caagcagagctccaccgcccCcaatgtggtgaacgcagccc	10	4	10	17	2	0	2	0	1	0	1	1	2	1	2	5	1	4	3	5	1	3	0			TCGA-VN-A943-01A-11D-A41K-08	TCGA-VN-A943-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1befde85-bf60-46a5-88b0-f6319b14a2fe	ac89aa0d-1731-4467-9eb3-57726a089b7f	g.chr3:156009785C>G	ENST00000490337.1	+	2	339				KCNAB1_ENST00000471742.1_Intron|KCNAB1_ENST00000389636.5_Intron|KCNAB1_ENST00000389634.5_Missense_Mutation_p.P30R|KCNAB1_ENST00000302490.8_Missense_Mutation_p.P30R	NM_172160.2	NP_751892.1	Q14722	KCAB1_HUMAN	potassium voltage-gated channel, shaker-related subfamily, beta member 1						learning or memory (GO:0007611)|potassium ion transport (GO:0006813)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	potassium channel regulator activity (GO:0015459)|voltage-gated potassium channel activity (GO:0005249)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	28			LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)			TCCACCGCCCCCAATGTGGTG	0.577																																						ENST00000302490.8																			0				breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	28						c.(88-90)cCc>cGc		potassium voltage-gated channel, shaker-related subfamily, beta member 1							69	64	66					3																	156009785		2203	4300	6503	SO:0001627	intron_variant	7881					cytoplasm|integral to membrane	oxidoreductase activity|potassium channel regulator activity|voltage-gated potassium channel activity	g.chr3:156009785C>G	U33428	CCDS3174.1, CCDS3175.1, CCDS33882.1	3q26.1	2006-11-29			ENSG00000169282	ENSG00000169282		"Potassium channels", "Aldo-keto reductases"	6228	protein-coding gene	gene with protein product		601141				8838324, 7499366	Standard	NM_172160		Approved	AKR6A3, KCNA1B, hKvBeta3, Kvb1.3, hKvb3	uc003far.2	Q14722	OTTHUMG00000158552	ENST00000490337.1:c.276-129620C>G	3.37:g.156009785C>G						KCNAB1_ENST00000490337.1_Intron|KCNAB1_ENST00000471742.1_Intron|KCNAB1_ENST00000389634.5_Missense_Mutation_p.P30R|KCNAB1_ENST00000389636.5_Intron	p.P30R	NM_172159.3	NP_751891.1	Q14722	KCAB1_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)		1	960	+			49					A8K9H8|A8KAD4|B3KPZ4|Q13031|Q13302|Q16547|Q6PI60|Q99869	Missense_Mutation	SNP	ENST00000490337.1	37	c.89C>G	CCDS3174.1	.	.	.	.	.	.	.	.	.	.	C	28.0	4.885351	0.91814	.	.	ENSG00000169282	ENST00000302490;ENST00000389634	T;T	0.12361	3.14;2.69	5.04	5.04	0.67666	.	0.000000	0.64402	D	0.000002	T	0.22742	0.0549	L	0.59436	1.845	0.80722	D	1	P;B	0.44241	0.829;0.161	P;B	0.45449	0.481;0.14	T	0.01280	-1.1397	10	0.62326	D	0.03	.	17.9603	0.89083	0.0:1.0:0.0:0.0	.	30;30	F8W6W4;B3KPZ4	.;.	R	30	ENSP00000305858:P30R;ENSP00000374285:P30R	ENSP00000305858:P30R	P	+	2	0	KCNAB1	157492479	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.623000	0.83113	2.349000	0.79799	0.460000	0.39030	CCC		0.577	KCNAB1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000351411.1	NM_003471		4	44	0	0	0	1	0	4	44					G	156009785	C	G	156009785	1	3	408	0	1	0	0	0	0	0	0	0	8009	623	22	5		5	KCNAB1	3	156009785	Intron	SNP	C	TCGA-VN-A943-01A-11D-A41K-08	40204491	156009785	42012645	11	19825											
ACTL6A	86	broad.mit.edu	37	chr3	179287979	179287979	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catagatactaatgctctgcGtgttccgagggagaatatgg	11	11	12	7	2	1	2	0	0	1	2	2	4	2	2	1	2	3	2	1	2	5	5			TCGA-VN-A943-01A-11D-A41K-08	TCGA-VN-A943-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1befde85-bf60-46a5-88b0-f6319b14a2fe	ac89aa0d-1731-4467-9eb3-57726a089b7f	g.chr3:179287979G>A	ENST00000429709.2	+	3	440	c.227G>A	c.(226-228)cGt>cAt	p.R76H	ACTL6A_ENST00000450518.2_Missense_Mutation_p.R34H|ACTL6A_ENST00000392662.1_Missense_Mutation_p.R34H	NM_004301.3	NP_004292.1	O96019	ACL6A_HUMAN	actin-like 6A	76					ATP-dependent chromatin remodeling (GO:0043044)|chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|nervous system development (GO:0007399)|neural retina development (GO:0003407)|regulation of growth (GO:0040008)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	Ino80 complex (GO:0031011)|npBAF complex (GO:0071564)|NuA4 histone acetyltransferase complex (GO:0035267)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)	chromatin binding (GO:0003682)|transcription coactivator activity (GO:0003713)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|urinary_tract(1)	21	all_cancers(143;3.94e-16)|Ovarian(172;0.0172)|Breast(254;0.191)		OV - Ovarian serous cystadenocarcinoma(80;5.98e-26)|GBM - Glioblastoma multiforme(14;0.0169)			AATGCTCTGCGTGTTCCGAGG	0.418																																						ENST00000429709.2																			0				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|urinary_tract(1)	21						c.(226-228)cGt>cAt		actin-like 6A							166	158	161					3																	179287979		2203	4300	6503	SO:0001583	missense	86				chromatin remodeling|DNA recombination|DNA repair|histone H2A acetylation|histone H4 acetylation|nervous system development|regulation of growth|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	Ino80 complex|npBAF complex|NuA4 histone acetyltransferase complex|plasma membrane|SWI/SNF complex	ATP binding|chromatin binding	g.chr3:179287979G>A	AK098691	CCDS3231.1, CCDS43174.1	3q26.33	2011-07-06			ENSG00000136518	ENSG00000136518		"INO80 complex subunits"	24124	protein-coding gene	gene with protein product	"BAF complex 53 kDa subunit", "BRG1-associated factor", "actin-related protein 4", "INO80 complex subunit K"	604958				9845365, 10380635	Standard	NM_004301		Approved	Actl6, BAF53A, Arp4, Baf53a, INO80K	uc003fjw.3	O96019	OTTHUMG00000157782	ENST00000429709.2:c.227G>A	3.37:g.179287979G>A	ENSP00000397552:p.Arg76His					ACTL6A_ENST00000450518.2_Missense_Mutation_p.R34H|ACTL6A_ENST00000392662.1_Missense_Mutation_p.R34H	p.R76H	NM_004301.3	NP_004292.1	O96019	ACL6A_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;5.98e-26)|GBM - Glioblastoma multiforme(14;0.0169)		3	440	+	all_cancers(143;3.94e-16)|Ovarian(172;0.0172)|Breast(254;0.191)		76					B3KMN1|D3DNR9|Q8TAE5|Q9BVS8|Q9H0W6	Missense_Mutation	SNP	ENST00000429709.2	37	c.227G>A	CCDS3231.1	.	.	.	.	.	.	.	.	.	.	G	13.82	2.350694	0.41599	.	.	ENSG00000136518	ENST00000429709;ENST00000450518;ENST00000392662;ENST00000490364	D;D;D	0.94376	-3.41;-3.41;-3.41	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	D	0.82323	0.5012	N	0.00996	-1.065	0.58432	D	0.999998	B	0.09022	0.002	B	0.06405	0.002	T	0.76748	-0.2845	10	0.22706	T	0.39	.	19.8407	0.96681	0.0:0.0:1.0:0.0	.	76	O96019	ACL6A_HUMAN	H	76;34;34;34	ENSP00000397552:R76H;ENSP00000394014:R34H;ENSP00000376430:R34H	ENSP00000376430:R34H	R	+	2	0	ACTL6A	180770673	1.000000	0.71417	0.994000	0.49952	0.928000	0.56348	6.762000	0.74950	2.677000	0.91161	0.650000	0.86243	CGT		0.418	ACTL6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349599.1	NM_004301		6	69	0	0	0	1	0	6	69					A	179287979	G	A	179287979	3	1	408	1	0	0	0	0	1	0	0	0	198	1145	40	1	237	1	ACTL6A	3	179287979	Missense_Mutation	SNP	G	TCGA-VN-A943-01A-11D-A41K-08	23278194	179287979	18734451	12	19826											
WHSC1	7468	broad.mit.edu	37	chr4	1902634	1902634	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agctgaaagatcttacttccCgggtgtttaatggagaaccc	11	11	10	9	1	1	3	0	1	1	2	2	4	2	3	2	2	3	2	2	2	4	4	rs201573732		TCGA-VN-A943-01A-11D-A41K-08	TCGA-VN-A943-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1befde85-bf60-46a5-88b0-f6319b14a2fe	ac89aa0d-1731-4467-9eb3-57726a089b7f	g.chr4:1902634C>G	ENST00000382895.3	+	4	684	c.253C>G	c.(253-255)Cgg>Ggg	p.R85G	WHSC1_ENST00000382891.5_Missense_Mutation_p.R85G|WHSC1_ENST00000398261.1_Missense_Mutation_p.R85G|WHSC1_ENST00000508803.1_Missense_Mutation_p.R85G|WHSC1_ENST00000436793.1_Missense_Mutation_p.R85G|WHSC1_ENST00000503128.1_Missense_Mutation_p.R85G|WHSC1_ENST00000514045.1_Missense_Mutation_p.R85G|WHSC1_ENST00000420906.2_Missense_Mutation_p.R85G|WHSC1_ENST00000382892.2_Missense_Mutation_p.R85G	NM_133330.2	NP_579877.1	O96028	NSD2_HUMAN	Wolf-Hirschhorn syndrome candidate 1	85					anatomical structure morphogenesis (GO:0009653)|atrial septum primum morphogenesis (GO:0003289)|atrial septum secundum morphogenesis (GO:0003290)|bone development (GO:0060348)|membranous septum morphogenesis (GO:0003149)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	48		all_epithelial(65;1.34e-05)	OV - Ovarian serous cystadenocarcinoma(23;0.00606)	STAD - Stomach adenocarcinoma(129;0.232)		TCTTACTTCCCGGGTGTTTAA	0.542			T	IGH@	MM																																	ENST00000503128.1				Dom	yes		4	4p16.3	7468	T	Wolf-Hirschhorn syndrome candidate 1(MMSET)			L	IGH@		MM		0				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	48						c.(253-255)Cgg>Ggg		Wolf-Hirschhorn syndrome candidate 1							58	60	59					4																	1902634		2203	4300	6503	SO:0001583	missense	7468				anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|cytoplasm|nuclear membrane|nucleolus	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding	g.chr4:1902634C>G	AF083386	CCDS3356.1, CCDS33940.1, CCDS46999.1	4p16.3	2013-05-20			ENSG00000109685	ENSG00000109685		"Zinc fingers, PHD-type"	12766	protein-coding gene	gene with protein product		602952				9618163, 9787135	Standard	NM_133334		Approved	MMSET, NSD2	uc003gdz.4	O96028	OTTHUMG00000121147	ENST00000382895.3:c.253C>G	4.37:g.1902634C>G	ENSP00000372351:p.Arg85Gly					WHSC1_ENST00000514045.1_Missense_Mutation_p.R85G|WHSC1_ENST00000382891.5_Missense_Mutation_p.R85G|WHSC1_ENST00000508803.1_Missense_Mutation_p.R85G|WHSC1_ENST00000436793.1_Missense_Mutation_p.R85G|WHSC1_ENST00000420906.2_Missense_Mutation_p.R85G|WHSC1_ENST00000398261.1_Missense_Mutation_p.R85G|WHSC1_ENST00000382892.2_Missense_Mutation_p.R85G|WHSC1_ENST00000382895.3_Missense_Mutation_p.R85G	p.R85G			O96028	NSD2_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.00606)	STAD - Stomach adenocarcinoma(129;0.232)	2	460	+		all_epithelial(65;1.34e-05)	85					A2A2T2|A2A2T3|A2A2T4|A7MCZ1|D3DVQ2|O96031|Q4VBY8|Q672J1|Q6IS00|Q86V01|Q9BZB4|Q9UI92|Q9UPR2	Missense_Mutation	SNP	ENST00000382895.3	37	c.253C>G	CCDS33940.1	.	.	.	.	.	.	.	.	.	.	C	14.69	2.612065	0.46631	.	.	ENSG00000109685	ENST00000508803;ENST00000514045;ENST00000515806;ENST00000382891;ENST00000382892;ENST00000436793;ENST00000420906;ENST00000382895;ENST00000503128;ENST00000509115;ENST00000398261	D;T;T;D;D;T;T;D;T;T;T	0.95622	-3.76;0.89;0.43;-3.76;-3.76;0.68;0.89;-3.76;0.87;0.96;0.87	5.59	3.84	0.44239	.	0.110120	0.41500	D	0.000865	D	0.94863	0.8340	L	0.36672	1.1	0.34481	D	0.703881	P;P;P;P;P	0.49358	0.923;0.87;0.605;0.923;0.923	P;P;B;P;P	0.56398	0.704;0.476;0.378;0.704;0.797	D	0.96268	0.9196	10	0.66056	D	0.02	.	11.9097	0.52733	0.0:0.8777:0.0:0.1223	.	85;85;85;85;85	O96028-3;O96028-7;O96028;O96028-5;O96028-6	.;.;NSD2_HUMAN;.;.	G	85	ENSP00000423972:R85G;ENSP00000421681:R85G;ENSP00000427434:R85G;ENSP00000372347:R85G;ENSP00000372348:R85G;ENSP00000416725:R85G;ENSP00000399251:R85G;ENSP00000372351:R85G;ENSP00000425761:R85G;ENSP00000422878:R85G;ENSP00000381311:R85G	ENSP00000308780:R85G	R	+	1	2	WHSC1	1872432	0.955000	0.32602	0.979000	0.43373	0.989000	0.77384	1.934000	0.40163	0.696000	0.31696	0.655000	0.94253	CGG		0.542	WHSC1-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366269.2	NM_133330		5	48	0	0	0	1	0	5	48					G	1902634	C	G	1902634	3	3	408	1	0	0	0	0	1	0	0	0	17359	643	23	5	255	5	WHSC1	4	1902634	Missense_Mutation	SNP	C	TCGA-VN-A943-01A-11D-A41K-08		1902634	189251642	13	19827											
SPOCK3	50859	broad.mit.edu	37	chr4	167713337	167713337	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttactgcttctctcaggcctCagcaatgtttttgtcttctt	5	19	6	11	0	5	0	2	0	3	0	6	0	5	0	1	1	3	3	1	1	2	6			TCGA-VN-A943-01A-11D-A41K-08	TCGA-VN-A943-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1befde85-bf60-46a5-88b0-f6319b14a2fe	ac89aa0d-1731-4467-9eb3-57726a089b7f	g.chr4:167713337C>T	ENST00000357154.3	-	8	839	c.702G>A	c.(700-702)ctG>ctA	p.L234L	SPOCK3_ENST00000502330.1_Silent_p.L234L|SPOCK3_ENST00000541637.1_Silent_p.L136L|SPOCK3_ENST00000535728.1_Intron|SPOCK3_ENST00000511269.1_Silent_p.L231L|SPOCK3_ENST00000512648.1_Silent_p.L231L|SPOCK3_ENST00000541354.1_Silent_p.L114L|SPOCK3_ENST00000510741.1_Intron|SPOCK3_ENST00000506886.1_Silent_p.L234L|SPOCK3_ENST00000511531.1_Silent_p.L234L|SPOCK3_ENST00000504953.1_Silent_p.L231L|SPOCK3_ENST00000421836.2_Silent_p.L183L|SPOCK3_ENST00000507137.1_5'UTR|SPOCK3_ENST00000357545.4_Silent_p.L231L|SPOCK3_ENST00000534949.1_Silent_p.L138L|SPOCK3_ENST00000512681.1_Silent_p.L136L	NM_016950.2	NP_058646.2	Q9BQ16	TICN3_HUMAN	sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 3	234					negative regulation of endopeptidase activity (GO:0010951)|peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)|signal transduction (GO:0007165)	extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|glycosaminoglycan binding (GO:0005539)|metalloendopeptidase inhibitor activity (GO:0008191)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	38	all_hematologic(180;0.221)	Prostate(90;0.0181)|Renal(120;0.0184)|Melanoma(52;0.0198)		GBM - Glioblastoma multiforme(119;0.02)		TCTCAGGCCTCAGCAATGTTT	0.398																																						ENST00000357154.3																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	38						c.(700-702)ctG>ctA		sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 3							108	90	96					4																	167713337		2203	4300	6503	SO:0001819	synonymous_variant	50859				signal transduction	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase inhibitor activity	g.chr4:167713337C>T	AJ001454	CCDS34095.1, CCDS54817.1, CCDS56343.1, CCDS56344.1, CCDS56346.1, CCDS56347.1, CCDS58931.1, CCDS75207.1	4q32.3	2011-10-10			ENSG00000196104	ENSG00000196104			13565	protein-coding gene	gene with protein product		607989				11751414	Standard	NM_001204352		Approved	testican-3	uc003iri.1	Q9BQ16	OTTHUMG00000161190	ENST00000357154.3:c.702G>A	4.37:g.167713337C>T						SPOCK3_ENST00000504953.1_Silent_p.L231L|SPOCK3_ENST00000512648.1_Silent_p.L231L|SPOCK3_ENST00000357545.4_Silent_p.L231L|SPOCK3_ENST00000535728.1_Intron|SPOCK3_ENST00000541637.1_Silent_p.L136L|SPOCK3_ENST00000511531.1_Silent_p.L234L|SPOCK3_ENST00000534949.1_Silent_p.L138L|SPOCK3_ENST00000541354.1_Silent_p.L114L|SPOCK3_ENST00000507137.1_5'UTR|SPOCK3_ENST00000512681.1_Silent_p.L136L|SPOCK3_ENST00000502330.1_Silent_p.L234L|SPOCK3_ENST00000510741.1_Intron|SPOCK3_ENST00000511269.1_Silent_p.L231L|SPOCK3_ENST00000506886.1_Silent_p.L234L|SPOCK3_ENST00000421836.2_Silent_p.L183L	p.L234L	NM_016950.2	NP_058646.2	Q9BQ16	TICN3_HUMAN		GBM - Glioblastoma multiforme(119;0.02)	8	839	-	all_hematologic(180;0.221)	Prostate(90;0.0181)|Renal(120;0.0184)|Melanoma(52;0.0198)	234					B2R7M7|B3KR67|B4DGK5|B4DHB4|B4DHV3|B4DI46|B4DJY3|E7EP61|F5H099|O75705|Q6UW53|Q96Q26	Silent	SNP	ENST00000357154.3	37	c.702G>A	CCDS54817.1																																																																																				0.398	SPOCK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364091.1			28	44	0	0	0	1	0	28	44					T	167713337	C	T	167713337	2	4	408	1	0	0	0	0	0	0	0	1	15080	813	29	3		3	SPOCK3	4	167713337	Silent	SNP	C	TCGA-VN-A943-01A-11D-A41K-08	165810703	167713337	23440939	14	19828											
NOTCH4	4855	broad.mit.edu	37	chr6	32185012	32185012	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggagagcttctgcactcatcGatatcctcctcacatcgggt	8	11	9	13	2	3	1	2	0	1	1	7	3	5	1	2	2	2	2	2	2	1	2			TCGA-VN-A943-01A-11D-A41K-08	TCGA-VN-A943-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1befde85-bf60-46a5-88b0-f6319b14a2fe	ac89aa0d-1731-4467-9eb3-57726a089b7f	g.chr6:32185012G>A	ENST00000375023.3	-	10	1794	c.1656C>T	c.(1654-1656)atC>atT	p.I552I	NOTCH4_ENST00000465528.1_5'Flank	NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4	552	EGF-like 14; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				cell differentiation (GO:0030154)|cell fate determination (GO:0001709)|embryo development (GO:0009790)|endothelial cell morphogenesis (GO:0001886)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|mammary gland development (GO:0030879)|morphogenesis of a branching structure (GO:0001763)|negative regulation of cell differentiation (GO:0045596)|negative regulation of endothelial cell differentiation (GO:0045602)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|patterning of blood vessels (GO:0001569)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|protein heterodimerization activity (GO:0046982)|receptor activity (GO:0004872)			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						TGCACTCATCGATATCCTCCT	0.622																																						ENST00000375023.3																			0				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						c.(1654-1656)atC>atT		notch 4							61	51	55					6																	32185012		1511	2708	4219	SO:0001819	synonymous_variant	4855				cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity	g.chr6:32185012G>A		CCDS34420.1	6p21.3	2013-01-10	2010-06-24		ENSG00000204301	ENSG00000204301		"Ankyrin repeat domain containing"	7884	protein-coding gene	gene with protein product		164951	"Notch (Drosophila) homolog 4", "Notch homolog 4 (Drosophila)"	INT3		7835890	Standard	NM_004557		Approved		uc003obb.3	Q99466	OTTHUMG00000031044	ENST00000375023.3:c.1656C>T	6.37:g.32185012G>A							p.I552I	NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN			10	1794	-			552			EGF-like 14; calcium-binding (Potential).		B0V183|B0V1X5|O00306|Q5SSY7|Q99458|Q99940|Q9H3S8|Q9UII9|Q9UIJ0	Silent	SNP	ENST00000375023.3	37	c.1656C>T	CCDS34420.1																																																																																				0.622	NOTCH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076045.2			5	7	0	0	0	1	0	5	7					A	32185012	G	A	32185012	2	1	408	1	0	0	0	0	0	0	0	1	10551	1048	37	2		2	NOTCH4	6	32185012	Silent	SNP	G	TCGA-VN-A943-01A-11D-A41K-08		32185012	138930055	15	19829											
PPARD	5467	broad.mit.edu	37	chr6	35392557	35392557	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggccatcattctgtgtggagGtgagtgagagtggggcaggt	7	10	19	5	0	2	2	1	2	1	1	2	4	2	3	1	6	0	1	1	6	0	1			TCGA-VN-A943-01A-11D-A41K-08	TCGA-VN-A943-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1befde85-bf60-46a5-88b0-f6319b14a2fe	ac89aa0d-1731-4467-9eb3-57726a089b7f	g.chr6:35392557G>T	ENST00000311565.4	+	8	1427		c.e8+1		PPARD_ENST00000540939.1_Splice_Site|PPARD_ENST00000444397.1_Missense_Mutation_p.G360V|PPARD_ENST00000448077.2_Splice_Site|PPARD_ENST00000360694.3_Splice_Site|PPARD_ENST00000418635.2_Splice_Site|PPARD_ENST00000337400.2_Missense_Mutation_p.G360V	NM_001171818.1	NP_001165289.1	Q03181	PPARD_HUMAN	peroxisome proliferator-activated receptor delta						adipose tissue development (GO:0060612)|anagen (GO:0042640)|apoptotic signaling pathway (GO:0097190)|axon ensheathment (GO:0008366)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cell-substrate adhesion (GO:0031589)|cellular response to hypoxia (GO:0071456)|cholesterol metabolic process (GO:0008203)|decidualization (GO:0046697)|embryo implantation (GO:0007566)|fatty acid beta-oxidation (GO:0006635)|fatty acid catabolic process (GO:0009062)|fatty acid transport (GO:0015908)|gene expression (GO:0010467)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glucose transport (GO:0015758)|heart development (GO:0007507)|intracellular receptor signaling pathway (GO:0030522)|keratinocyte migration (GO:0051546)|keratinocyte proliferation (GO:0043616)|lipid metabolic process (GO:0006629)|mRNA transcription (GO:0009299)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of collagen biosynthetic process (GO:0032966)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of inflammatory response (GO:0050728)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of smooth muscle cell proliferation (GO:0048662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|phospholipid biosynthetic process (GO:0008654)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epidermis development (GO:0045684)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of insulin secretion (GO:0032024)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of vasodilation (GO:0045909)|proteoglycan metabolic process (GO:0006029)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to activity (GO:0014823)|response to glucose (GO:0009749)|response to vitamin A (GO:0033189)|transcription initiation from RNA polymerase II promoter (GO:0006367)|vitamin A metabolic process (GO:0006776)|wound healing (GO:0042060)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|drug binding (GO:0008144)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|linoleic acid binding (GO:0070539)|lipid binding (GO:0008289)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(1)|endometrium(1)|large_intestine(4)|liver(2)|lung(9)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23					Bezafibrate(DB01393)|Icosapent(DB00159)|Sulindac(DB00605)|Treprostinil(DB00374)	CTGTGTGGAGGTGAGTGAGAG	0.572																																						ENST00000337400.2																			0				autonomic_ganglia(1)|breast(1)|endometrium(1)|large_intestine(4)|liver(2)|lung(9)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23						c.(1078-1080)gGt>gTt		peroxisome proliferator-activated receptor delta	Icosapent(DB00159)|Sulindac(DB00605)|Treprostinil(DB00374)						40	41	41					6																	35392557		2201	4299	6500	SO:0001630	splice_region_variant	5467				apoptosis|axon ensheathment|cholesterol metabolic process|decidualization|embryo implantation|fatty acid beta-oxidation|fatty acid transport|generation of precursor metabolites and energy|glucose metabolic process|glucose transport|negative regulation of transcription from RNA polymerase II promoter|positive regulation of fat cell differentiation|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	drug binding|linoleic acid binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	g.chr6:35392557G>T	L07592	CCDS4803.1, CCDS4804.1, CCDS54994.1, CCDS54995.1	6p21.2	2013-01-16	2006-10-17		ENSG00000112033	ENSG00000112033		"Nuclear hormone receptors"	9235	protein-coding gene	gene with protein product		600409	"peroxisome proliferative activated receptor, delta"			1333051	Standard	NM_177435		Approved	NUC1, NUCII, FAAR, NR1C2	uc003okm.3	Q03181	OTTHUMG00000014567	ENST00000311565.4:c.1078+1G>T	6.37:g.35392557G>T						PPARD_ENST00000448077.2_Splice_Site|PPARD_ENST00000444397.1_Missense_Mutation_p.G360V|PPARD_ENST00000418635.2_Splice_Site|PPARD_ENST00000360694.3_Splice_Site|PPARD_ENST00000540939.1_Splice_Site|PPARD_ENST00000311565.4_Splice_Site	p.G360V			Q03181	PPARD_HUMAN			8	1428	+			0			Ligand-binding.		A8K6J6|B4E3V3|B6ZGS1|B7Z3W1|E9PE18|Q5D1P0|Q7Z5K0|Q9BUD4	Missense_Mutation	SNP	ENST00000311565.4	37	c.1079G>T	CCDS4803.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	26.1|26.1	4.708063|4.708063	0.89018|0.89018	.|.	.|.	ENSG00000112033|ENSG00000112033	ENST00000448077;ENST00000360694;ENST00000418635;ENST00000311565;ENST00000540939|ENST00000444397;ENST00000337400	.|D;D	.|0.94280	.|-3.39;-3.39	5.81|5.81	5.81|5.81	0.92471|0.92471	.|.	.|.	.|.	.|.	.|.	.|D	.|0.98040	.|0.9354	H|H	0.96365|0.96365	3.81|3.81	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.97110	.|1.0	.|D	.|0.98664	.|1.0685	.|8	.|.	.|.	.|.	.|.	20.0699|20.0699	0.97718|0.97718	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|360	.|F1D8S7	.|.	.|V	-1|360	.|ENSP00000410837:G360V;ENSP00000337063:G360V	.|.	.|G	+|+	.|2	.|0	PPARD|PPARD	35500535|35500535	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.961000|0.961000	0.63080|0.63080	9.824000|9.824000	0.99380|0.99380	2.741000|2.741000	0.93983|0.93983	0.655000|0.655000	0.94253|0.94253	.|GGT		0.572	PPARD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040288.1	NM_006238	Intron	14	25	1	0	1.5842e-08	1	1.80525e-08	14	25					T	35392557	G	T	35392557	5	4	408	1	0	0	0	0	0	0	1	0	12298	1275	44	5	1114	5	PPARD	6	35392557	Splice_Site	SNP	G	TCGA-VN-A943-01A-11D-A41K-08	3207545	35392557	135722510	16	19830											
C6orf138	442213	broad.mit.edu	37	chr6	47976814	47976814	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtttggcacttccactacccCgcccagttggtgtccaataa	8	11	8	14	1	0	0	0	0	0	0	2	0	2	0	5	2	1	3	5	2	3	5			TCGA-VN-A943-01A-11D-A41K-08	TCGA-VN-A943-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1befde85-bf60-46a5-88b0-f6319b14a2fe	ac89aa0d-1731-4467-9eb3-57726a089b7f	g.chr6:47976814C>T	ENST00000339488.4	-	2	496	c.463G>A	c.(463-465)Ggg>Agg	p.G155R	PTCHD4_ENST00000543600.1_Missense_Mutation_p.G138R	NM_001013732.3	NP_001013754.3	Q6ZW05	PTHD4_HUMAN	patched domain containing 4	155						integral component of membrane (GO:0016021)	hedgehog receptor activity (GO:0008158)										TCCACTACCCCGCCCAGTTGG	0.468																																						ENST00000543600.1																			0											c.(412-414)Ggg>Agg		patched domain containing 4							38	37	37					6																	47976814		1944	4138	6082	SO:0001583	missense	442213					integral to membrane	hedgehog receptor activity	g.chr6:47976814C>T		CCDS34473.2	6p12.3	2012-02-06	2012-02-06	2012-02-06	ENSG00000244694	ENSG00000244694			21345	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 138"	C6orf138			Standard	NM_001013732		Approved	dJ402H5.2, FLJ41841	uc011dwm.2	Q6ZW05	OTTHUMG00000150404	ENST00000339488.4:c.463G>A	6.37:g.47976814C>T	ENSP00000341914:p.Gly155Arg					PTCHD4_ENST00000339488.4_Missense_Mutation_p.G155R	p.G138R			Q6ZW05	CF138_HUMAN			2	451	-			155					B0QZ29|B4DRK3|Q5T884	Missense_Mutation	SNP	ENST00000339488.4	37	c.412G>A	CCDS34473.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	27.1|27.1	4.796307|4.796307	0.90453|0.90453	.|.	.|.	ENSG00000244694|ENSG00000244694	ENST00000339488;ENST00000543600|ENST00000398738	D;D|.	0.88354|.	-2.37;-2.37|.	6.03|6.03	6.03|6.03	0.97812|0.97812	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.72534|0.72534	0.3472|0.3472	M|M	0.71036|0.71036	2.16|2.16	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	0.995;1.0|.	P;D|.	0.97110|.	0.906;1.0|.	T|T	0.68599|0.68599	-0.5366|-0.5366	10|5	0.72032|.	D|.	0.01|.	.|.	20.5568|20.5568	0.99304|0.99304	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	155;138|.	Q6ZW05;B0QZ29|.	CF138_HUMAN;.|.	R|Q	155;138|154	ENSP00000341914:G155R;ENSP00000439864:G138R|.	ENSP00000341914:G155R|.	G|R	-|-	1|2	0|0	C6orf138|C6orf138	48084773|48084773	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	5.727000|5.727000	0.68523|0.68523	2.861000|2.861000	0.98227|0.98227	0.655000|0.655000	0.94253|0.94253	GGG|CGG		0.468	PTCHD4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317987.2	NM_001013732		4	30	0	0	0	1	0	4	30					T	47976814	C	T	47976814	3	4	408	1	0	0	0	0	1	0	0	0	2332	652	23	2	2085	2	C6orf138	6	47976814	Missense_Mutation	SNP	C	TCGA-VN-A943-01A-11D-A41K-08	12584257	47976814	123138253	17	19831											
NFE2L3	9603	broad.mit.edu	37	chr7	26224261	26224261	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctataagtcaggatgtgaatCttcatgaggccatcttgctt	10	14	9	8	0	4	2	2	2	2	0	4	3	4	3	1	2	1	1	1	2	3	5			TCGA-VN-A943-01A-11D-A41K-08	TCGA-VN-A943-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1befde85-bf60-46a5-88b0-f6319b14a2fe	ac89aa0d-1731-4467-9eb3-57726a089b7f	g.chr7:26224261C>T	ENST00000056233.3	+	4	1202	c.943C>T	c.(943-945)Ctt>Ttt	p.L315F		NM_004289.6	NP_004280.5	Q9Y4A8	NF2L3_HUMAN	nuclear factor, erythroid 2-like 3	315					transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(5)|urinary_tract(7)	29						GGATGTGAATCTTCATGAGGC	0.408																																						ENST00000056233.3																			0				breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(5)|urinary_tract(7)	29						c.(943-945)Ctt>Ttt		nuclear factor, erythroid 2-like 3							117	108	111					7																	26224261		2203	4300	6503	SO:0001583	missense	9603				transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chr7:26224261C>T	AB010812	CCDS5396.1	7p15.2	2013-08-23	2013-08-23		ENSG00000050344	ENSG00000050344		"basic leucine zipper proteins"	7783	protein-coding gene	gene with protein product		604135	"nuclear factor (erythroid-derived 2)-like 3"			10037736	Standard	NM_004289		Approved	Nrf3	uc003sxq.3	Q9Y4A8	OTTHUMG00000023882	ENST00000056233.3:c.943C>T	7.37:g.26224261C>T	ENSP00000056233:p.Leu315Phe						p.L315F	NM_004289.6	NP_004280.5	Q9Y4A8	NF2L3_HUMAN			4	1202	+			315					Q6NUS0|Q7Z498|Q86UJ4|Q86VR5|Q9UQA4	Missense_Mutation	SNP	ENST00000056233.3	37	c.943C>T	CCDS5396.1	.	.	.	.	.	.	.	.	.	.	C	16.83	3.230330	0.58777	.	.	ENSG00000050344	ENST00000056233;ENST00000398175	T	0.59224	0.28	5.06	5.06	0.68205	.	0.073033	0.53938	D	0.000054	T	0.75064	0.3799	M	0.80746	2.51	0.43550	D	0.995853	D	0.89917	1.0	D	0.74023	0.982	T	0.78147	-0.2317	10	0.72032	D	0.01	-13.9175	12.2208	0.54433	0.0:0.9214:0.0:0.0786	.	315	Q9Y4A8	NF2L3_HUMAN	F	315;21	ENSP00000056233:L315F	ENSP00000056233:L315F	L	+	1	0	NFE2L3	26190786	1.000000	0.71417	1.000000	0.80357	0.920000	0.55202	1.782000	0.38654	2.526000	0.85167	0.467000	0.42956	CTT		0.408	NFE2L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214088.1			4	102	0	0	0	1	0	4	102					T	26224261	C	T	26224261	3	4	408	1	0	0	0	0	1	0	0	0	10369	913	32	3	957	3	NFE2L3	7	26224261	Missense_Mutation	SNP	C	TCGA-VN-A943-01A-11D-A41K-08		26224261	132914402	18	19832											
APTX	54840	broad.mit.edu	37	chr9	32973551	32973551	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgaggaatggaaggcagcAgctgctggcactcatgacaa	12	6	14	9	0	1	2	1	2	0	0	1	4	1	4	0	4	3	6	0	4	3	0			TCGA-VN-A943-01A-11D-A41K-08	TCGA-VN-A943-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1befde85-bf60-46a5-88b0-f6319b14a2fe	ac89aa0d-1731-4467-9eb3-57726a089b7f	g.chr9:32973551A>C	ENST00000379819.1	-	8	1015	c.1016T>G	c.(1015-1017)cTg>cGg	p.L339R	APTX_ENST00000309615.3_3'UTR|APTX_ENST00000436040.2_3'UTR|APTX_ENST00000463596.1_Missense_Mutation_p.L325R|APTX_ENST00000397172.3_Missense_Mutation_p.L267R|APTX_ENST00000379813.3_Missense_Mutation_p.L325R|APTX_ENST00000379825.2_3'UTR|APTX_ENST00000379817.2_Missense_Mutation_p.L325R|APTX_ENST00000468275.1_Missense_Mutation_p.L325R|APTX_ENST00000476858.1_Missense_Mutation_p.L285R			Q7Z2E3	APTX_HUMAN	aprataxin	339					cell death (GO:0008219)|cellular response to DNA damage stimulus (GO:0006974)|dephosphorylation (GO:0016311)|DNA catabolic process, exonucleolytic (GO:0000738)|DNA ligation (GO:0006266)|double-strand break repair (GO:0006302)|polynucleotide 3' dephosphorylation (GO:0098506)|regulation of protein stability (GO:0031647)|response to hydrogen peroxide (GO:0042542)|single strand break repair (GO:0000012)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|damaged DNA binding (GO:0003684)|DNA 5'-adenosine monophosphate hydrolase activity (GO:0033699)|double-stranded DNA binding (GO:0003690)|double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)|phosphoglycolate phosphatase activity (GO:0008967)|phosphoprotein binding (GO:0051219)|polynucleotide 3'-phosphatase activity (GO:0046403)|protein N-terminus binding (GO:0047485)			endometrium(1)|lung(1)|ovary(2)|prostate(2)	6			LUSC - Lung squamous cell carcinoma(29;0.0302)	GBM - Glioblastoma multiforme(74;0.105)		GGAAGGCAGCAGCTGCTGGCA	0.552								Editing and processing nucleases																														ENST00000379817.2																			0				endometrium(1)|lung(1)|ovary(2)|prostate(2)	6						c.(973-975)cTg>cGg	Editing and processing nucleases	aprataxin							85	78	80					9																	32973551		2203	4300	6503	SO:0001583	missense	54840				cell death|double-strand break repair|regulation of protein stability|response to hydrogen peroxide|single strand break repair	chromatin|nucleolus|nucleoplasm	chromatin binding|damaged DNA binding|DNA 5'-adenosine monophosphate hydrolase activity|double-stranded DNA binding|double-stranded RNA binding|phosphoglycolate phosphatase activity|phosphoprotein binding|polynucleotide 3'-phosphatase activity|protein N-terminus binding|zinc ion binding	g.chr9:32973551A>C	AK000164	CCDS47956.1, CCDS56568.1, CCDS75827.1	9p13.3	2014-01-28	2003-04-03		ENSG00000137074	ENSG00000137074			15984	protein-coding gene	gene with protein product		606350	"ataxia 1, early onset with hypoalbuminemia"	AXA1		11586299, 11586300	Standard	NM_175069		Approved	FLJ20157, AOA, AOA1, EAOH, EOAHA	uc003zry.3	Q7Z2E3	OTTHUMG00000019759	ENST00000379819.1:c.1016T>G	9.37:g.32973551A>C	ENSP00000369147:p.Leu339Arg					APTX_ENST00000476858.1_Missense_Mutation_p.L285R|APTX_ENST00000379813.3_Missense_Mutation_p.L325R|APTX_ENST00000463596.1_Missense_Mutation_p.L325R|APTX_ENST00000309615.3_3'UTR|APTX_ENST00000397172.3_Missense_Mutation_p.L267R|APTX_ENST00000379825.2_3'UTR|APTX_ENST00000468275.1_Missense_Mutation_p.L325R|APTX_ENST00000436040.2_3'UTR|APTX_ENST00000379819.1_Missense_Mutation_p.L339R	p.L325R			Q7Z2E3	APTX_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0302)	GBM - Glioblastoma multiforme(74;0.105)	7	1170	-			339					A8MTN4|D3DRK9|D3DRL0|Q0P662|Q5T781|Q5T782|Q5T784|Q6JV81|Q6JV82|Q6JV85|Q7Z2F3|Q7Z336|Q7Z5R5|Q7Z6V7|Q7Z6V8|Q9NXM5	Missense_Mutation	SNP	ENST00000379819.1	37	c.974T>G		.	.	.	.	.	.	.	.	.	.	A	8.662	0.900821	0.17686	.	.	ENSG00000137074	ENST00000397172;ENST00000379817;ENST00000379819;ENST00000468275;ENST00000463596;ENST00000476858;ENST00000344355;ENST00000379813	D;D;D;D;D;D;D	0.91124	-1.77;-1.78;-1.78;-1.78;-1.78;-2.79;-1.78	5.43	1.34	0.21922	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);	0.557891	0.17461	N	0.173432	T	0.72606	0.3481	N	0.01874	-0.695	0.80722	D	1	B;B;B	0.17268	0.021;0.0;0.001	B;B;B	0.15052	0.012;0.006;0.003	T	0.58707	-0.7589	10	0.16420	T	0.52	-2.47	9.2479	0.37539	0.3503:0.0:0.0:0.6497	.	267;271;339	Q7Z2E3-3;Q7Z2E3-5;Q7Z2E3	.;.;APTX_HUMAN	R	267;325;339;325;325;285;320;325	ENSP00000380357:L267R;ENSP00000369145:L325R;ENSP00000369147:L339R;ENSP00000420263:L325R;ENSP00000419846:L325R;ENSP00000419042:L285R;ENSP00000369141:L325R	ENSP00000339407:L320R	L	-	2	0	APTX	32963551	1.000000	0.71417	0.998000	0.56505	0.348000	0.29142	1.502000	0.35704	0.314000	0.23086	0.533000	0.62120	CTG		0.552	APTX-003	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000052028.2	NM_017692		8	37	0	0	0	1	0	8	37					C	32973551	A	C	32973551	3	2	408	1	0	0	0	0	1	0	0	0	820	188	7	5	58	5	APTX	9	32973551	Missense_Mutation	SNP	A	TCGA-VN-A943-01A-11D-A41K-08		32973551	108239880	19	19833											
IFT46	56912	broad.mit.edu	37	chr11	118427747	118427747	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gttgaggtgtcaactgtgagGtcttcttcttctcctgtgat	5	17	11	8	0	5	3	1	3	4	0	6	3	5	3	1	2	1	1	1	2	1	4	rs374705299|rs144091431	byFrequency	TCGA-VN-A943-01A-11D-A41K-08	TCGA-VN-A943-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1befde85-bf60-46a5-88b0-f6319b14a2fe	ac89aa0d-1731-4467-9eb3-57726a089b7f	g.chr11:118427747G>C	ENST00000264021.3	-	4	477	c.59C>G	c.(58-60)aCc>aGc	p.T20S	IFT46_ENST00000530872.1_Missense_Mutation_p.T71S|IFT46_ENST00000264020.2_Missense_Mutation_p.T71S	NM_001168618.1	NP_001162089.1	Q9NQC8	IFT46_HUMAN	intraflagellar transport 46	20					cilium assembly (GO:0042384)|intraciliary transport (GO:0042073)|protein stabilization (GO:0050821)|smoothened signaling pathway (GO:0007224)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|intraciliary transport particle B (GO:0030992)|motile cilium (GO:0031514)|motile primary cilium (GO:0031512)	protein C-terminus binding (GO:0008022)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	9						CAACTGTGAGGTCTTCTTCTT	0.408																																						ENST00000264020.2																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	9						c.(211-213)aCc>aGc		intraflagellar transport 46 homolog (Chlamydomonas)							167	141	149					11																	118427747		2200	4295	6495	SO:0001583	missense	56912				flagellum assembly|intraflagellar transport|protein stabilization	microtubule basal body|microtubule-based flagellum|nucleus	protein C-terminus binding	g.chr11:118427747G>C	AL136934	CCDS8399.1, CCDS53718.1	11q23.3	2014-07-18	2014-07-03	2010-04-22	ENSG00000118096	ENSG00000118096		"Intraflagellar transport homologs"	26146	protein-coding gene	gene with protein product	"cilia and flagella associated protein 32"		"chromosome 11 open reading frame 60", "intraflagellar transport 46 homolog (Chlamydomonas)"	C11orf60		10873569, 19253336	Standard	NM_020153		Approved	C11orf2, FLJ21827, CFAP32	uc001pto.2	Q9NQC8	OTTHUMG00000166408	ENST00000264021.3:c.59C>G	11.37:g.118427747G>C	ENSP00000264021:p.Thr20Ser					IFT46_ENST00000264021.3_Missense_Mutation_p.T20S|IFT46_ENST00000530872.1_Missense_Mutation_p.T71S	p.T71S	NM_020153.3	NP_064538.3	Q9NQC8	IFT46_HUMAN			5	589	-			20					A8K0F6|Q9H6V5	Missense_Mutation	SNP	ENST00000264021.3	37	c.212C>G	CCDS53718.1	.	.	.	.	.	.	.	.	.	.	G	13.31	2.199838	0.38905	.	.	ENSG00000118096	ENST00000264021;ENST00000264020;ENST00000530872;ENST00000531939;ENST00000534156;ENST00000534114;ENST00000528378;ENST00000533918	T;T;T;T;T;T;T;T	0.44881	1.02;0.92;2.34;1.02;1.02;2.34;1.01;0.91	5.42	3.55	0.40652	.	0.433274	0.25472	N	0.030429	T	0.18551	0.0445	N	0.12182	0.205	0.09310	N	1	B;B;B	0.09022	0.001;0.001;0.002	B;B;B	0.13407	0.004;0.001;0.009	T	0.20974	-1.0259	10	0.10111	T	0.7	-0.7784	3.7701	0.08637	0.0795:0.1434:0.4814:0.2957	.	71;20;71	E9PR06;Q9NQC8;Q9NQC8-2	.;IFT46_HUMAN;.	S	20;71;71;20;20;71;20;20	ENSP00000264021:T20S;ENSP00000264020:T71S;ENSP00000432384:T71S;ENSP00000435826:T20S;ENSP00000434175:T20S;ENSP00000432982:T71S;ENSP00000435278:T20S;ENSP00000435750:T20S	ENSP00000264020:T71S	T	-	2	0	IFT46	117932957	0.438000	0.25602	0.926000	0.36857	0.723000	0.41478	0.915000	0.28638	0.832000	0.34804	0.650000	0.86243	ACC		0.408	IFT46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389627.1	NM_020153		16	15	0	0	0	1	0	16	15					C	118427747	G	C	118427747	3	2	408	1	0	0	0	0	1	0	0	0	7560	1261	44	5	891	5	IFT46	11	118427747	Missense_Mutation	SNP	G	TCGA-VN-A943-01A-11D-A41K-08		118427747	16578769	20	19834											
USP44	84101	broad.mit.edu	37	chr12	95914854	95914854	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catcaccaccgcggacaagtCatagataaagcattctggtc	13	8	8	12	2	3	1	2	0	1	1	4	2	3	2	2	2	1	1	2	2	4	3			TCGA-VN-A943-01A-11D-A41K-08	TCGA-VN-A943-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1befde85-bf60-46a5-88b0-f6319b14a2fe	ac89aa0d-1731-4467-9eb3-57726a089b7f	g.chr12:95914854C>A	ENST00000258499.3	-	5	2146	c.1858G>T	c.(1858-1860)Gac>Tac	p.D620Y	USP44_ENST00000393091.2_Missense_Mutation_p.D620Y|USP44_ENST00000537435.2_Missense_Mutation_p.D620Y|USP44_ENST00000552440.1_Intron	NM_001278393.1|NM_032147.2	NP_001265322.1|NP_115523.2	Q9H0E7	UBP44_HUMAN	ubiquitin specific peptidase 44	620	USP.				mitotic nuclear division (GO:0007067)|negative regulation of mitotic anaphase-promoting complex activity (GO:0060564)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein deubiquitination (GO:0016579)|regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090266)|regulation of spindle checkpoint (GO:0090231)	nucleus (GO:0005634)	ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(5)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	36						GCGGACAAGTCATAGATAAAG	0.453																																						ENST00000258499.3																			0				breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(5)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	36						c.(1858-1860)Gac>Tac		ubiquitin specific peptidase 44							148	132	138					12																	95914854		2203	4300	6503	SO:0001583	missense	84101				anaphase|cell division|mitosis|negative regulation of mitotic anaphase-promoting complex activity|protein deubiquitination|regulation of spindle checkpoint|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding	g.chr12:95914854C>A	AK027434	CCDS9053.1	12q21.33	2005-08-08	2005-08-08			ENSG00000136014		"Ubiquitin-specific peptidases"	20064	protein-coding gene	gene with protein product		610993	"ubiquitin specific protease 44"			12838346	Standard	NM_001278393		Approved	FLJ14528	uc001teg.3	Q9H0E7		ENST00000258499.3:c.1858G>T	12.37:g.95914854C>A	ENSP00000258499:p.Asp620Tyr					USP44_ENST00000552440.1_Intron|USP44_ENST00000537435.2_Missense_Mutation_p.D620Y|USP44_ENST00000393091.2_Missense_Mutation_p.D620Y	p.D620Y	NM_001278393.1|NM_032147.2	NP_001265322.1|NP_115523.2	Q9H0E7	UBP44_HUMAN			5	2146	-			620					B2RDW3	Missense_Mutation	SNP	ENST00000258499.3	37	c.1858G>T	CCDS9053.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.308312	0.81247	.	.	ENSG00000136014	ENST00000258499;ENST00000393091;ENST00000537435	T;T;T	0.03272	3.99;3.99;3.99	5.81	4.91	0.64330	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2, conserved site (1);Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.201989	0.50627	D	0.000110	T	0.22627	0.0546	M	0.89534	3.04	0.58432	D	0.999998	D	0.76494	0.999	D	0.73708	0.981	T	0.04930	-1.0917	10	0.87932	D	0	.	14.0428	0.64687	0.0:0.9266:0.0:0.0734	.	620	Q9H0E7	UBP44_HUMAN	Y	620	ENSP00000258499:D620Y;ENSP00000376806:D620Y;ENSP00000442629:D620Y	ENSP00000258499:D620Y	D	-	1	0	USP44	94438985	1.000000	0.71417	0.999000	0.59377	0.924000	0.55760	3.916000	0.56416	1.446000	0.47643	0.485000	0.47835	GAC		0.453	USP44-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408312.1	NM_032147		21	53	1	0	4.35082e-09	1	5.07595e-09	21	53					A	95914854	C	A	95914854	3	1	408	1	0	0	0	0	1	0	0	0	17072	826	29	5	288	5	USP44	12	95914854	Missense_Mutation	SNP	C	TCGA-VN-A943-01A-11D-A41K-08		95914854	37937041	21	19835											
NCOR2	9612	broad.mit.edu	37	chr12	124824556	124824556	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgccaacctggcccacctcaGgaccgtgggcgtgctgggct	5	7	14	15	2	1	0	1	0	0	0	1	1	1	1	5	4	3	2	5	4	1	0			TCGA-VN-A943-01A-11D-A41K-08	TCGA-VN-A943-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1befde85-bf60-46a5-88b0-f6319b14a2fe	ac89aa0d-1731-4467-9eb3-57726a089b7f	g.chr12:124824556G>A	ENST00000405201.1	-	37	5683	c.5683C>T	c.(5683-5685)Ctg>Ttg	p.L1895L	NCOR2_ENST00000404621.1_Silent_p.L1885L|NCOR2_ENST00000397355.1_Silent_p.L1886L|NCOR2_ENST00000429285.2_Silent_p.L1885L|NCOR2_ENST00000356219.3_Silent_p.L1902L|NCOR2_ENST00000404121.2_Silent_p.L1456L			Q9Y618	NCOR2_HUMAN	nuclear receptor corepressor 2	1906					cellular lipid metabolic process (GO:0044255)|gene expression (GO:0010467)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|regulation of cellular ketone metabolic process by negative regulation of transcription from RNA polymerase II promoter (GO:0072365)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	membrane (GO:0016020)|nuclear body (GO:0016604)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone deacetylase binding (GO:0042826)|Notch binding (GO:0005112)|protein N-terminus binding (GO:0047485)|transcription corepressor activity (GO:0003714)			breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		GCCCACCTCAGGACCGTGGGC	0.622																																						ENST00000356219.3																			0				breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						c.(5704-5706)Ctg>Ttg		nuclear receptor corepressor 2							52	59	57					12																	124824556		2046	4168	6214	SO:0001819	synonymous_variant	9612				cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity	g.chr12:124824556G>A	U37146	CCDS41857.1, CCDS41858.1, CCDS41857.2, CCDS41858.2, CCDS55892.1	12q24	2010-06-10	2010-06-10		ENSG00000196498	ENSG00000196498			7673	protein-coding gene	gene with protein product		600848	"nuclear receptor co-repressor 2"			7566127, 8813722	Standard	NM_001077261		Approved	SMRT, SMRTE, TRAC-1, CTG26, TNRC14	uc010tbb.2	Q9Y618	OTTHUMG00000150455	ENST00000405201.1:c.5683C>T	12.37:g.124824556G>A						NCOR2_ENST00000404621.1_Silent_p.L1885L|NCOR2_ENST00000404121.2_Silent_p.L1456L|NCOR2_ENST00000429285.2_Silent_p.L1885L|NCOR2_ENST00000397355.1_Silent_p.L1886L|NCOR2_ENST00000405201.1_Silent_p.L1895L	p.L1902L	NM_006312.5	NP_006303.4	Q9Y618	NCOR2_HUMAN		Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)	38	5859	-	all_neural(191;0.0804)|Medulloblastoma(191;0.163)		1906	T -> K (in Ref. 2; AAD20946, 3; AAD22973, 4; AAX77219 and 8; AAC50236).				O00613|O15416|O15421|Q13354|Q56D06|Q59GM0|Q9Y5U0	Silent	SNP	ENST00000405201.1	37	c.5704C>T	CCDS41858.2	.	.	.	.	.	.	.	.	.	.	G	9.215	1.031815	0.19590	.	.	ENSG00000196498	ENST00000440187;ENST00000453428	.	.	.	4.18	3.28	0.37604	.	.	.	.	.	T	0.58623	0.2135	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.53301	-0.8458	4	.	.	.	.	9.1896	0.37191	0.1806:0.0:0.8194:0.0	.	.	.	.	L	129;224	.	.	P	-	2	0	NCOR2	123390509	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.678000	0.46900	0.723000	0.32274	0.491000	0.48974	CCT		0.622	NCOR2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318173.2	NM_006312		9	21	0	0	0	1	0	9	21					A	124824556	G	A	124824556	2	1	408	1	0	0	0	0	0	0	0	1	10236	991	35	3		3	NCOR2	12	124824556	Silent	SNP	G	TCGA-VN-A943-01A-11D-A41K-08	28909702	124824556	9027339	22	19836											
SLC8A3	6547	broad.mit.edu	37	chr14	70633727	70633727	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcatcctcctcaaaaatgtcGtcatcaattatgcccacgga	12	11	5	13	2	4	0	4	0	0	0	7	1	6	1	3	1	1	0	3	1	4	1			TCGA-VN-A943-01A-11D-A41K-08	TCGA-VN-A943-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1befde85-bf60-46a5-88b0-f6319b14a2fe	ac89aa0d-1731-4467-9eb3-57726a089b7f	g.chr14:70633727G>A	ENST00000381269.2	-	2	2166	c.1413C>T	c.(1411-1413)gaC>gaT	p.D471D	SLC8A3_ENST00000534137.1_Silent_p.D471D|SLC8A3_ENST00000356921.2_Silent_p.D471D|SLC8A3_ENST00000357887.3_Silent_p.D471D|SLC8A3_ENST00000528359.1_Silent_p.D471D	NM_058240.2|NM_183002.1	NP_489479.1|NP_892114.1	P57103	NAC3_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 3	471	Calx-beta 1.				blood coagulation (GO:0007596)|calcium ion export from cell (GO:1990034)|calcium ion import into cell (GO:1990035)|calcium ion transport into cytosol (GO:0060402)|cell communication (GO:0007154)|cellular response to cAMP (GO:0071320)|hematopoietic progenitor cell differentiation (GO:0002244)|ion transport (GO:0006811)|telencephalon development (GO:0021537)|transmembrane transport (GO:0055085)	dendritic spine (GO:0043197)|integral component of membrane (GO:0016021)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)	calcium:sodium antiporter activity (GO:0005432)	p.D471D(1)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6)	54				BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)		CAAAAATGTCGTCATCAATTA	0.512																																						ENST00000381269.2																			1	Substitution - coding silent(1)	p.D471D(1)	ovary(1)	NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6)	54						c.(1411-1413)gaC>gaT		solute carrier family 8 (sodium/calcium exchanger), member 3							162	163	163					14																	70633727		2203	4300	6503	SO:0001819	synonymous_variant	6547				cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding	g.chr14:70633727G>A	AJ304852	CCDS9799.1, CCDS9800.1, CCDS35498.1, CCDS41967.1, CCDS45131.1, CCDS53904.1	14q24.1	2013-05-22	2008-09-02		ENSG00000100678	ENSG00000100678		"Solute carriers"	11070	protein-coding gene	gene with protein product		607991				8798769	Standard	XM_005268017		Approved	NCX3	uc001xly.3	P57103	OTTHUMG00000152342	ENST00000381269.2:c.1413C>T	14.37:g.70633727G>A						SLC8A3_ENST00000528359.1_Silent_p.D471D|SLC8A3_ENST00000534137.1_Silent_p.D471D|SLC8A3_ENST00000356921.2_Silent_p.D471D|SLC8A3_ENST00000357887.3_Silent_p.D471D	p.D471D	NM_058240.2|NM_183002.1	NP_489479.1|NP_892114.1	P57103	NAC3_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)	2	2166	-			471			Calx-beta 1.		Q5K3P6|Q5K3P7|Q8IUE9|Q8IUF0|Q8NFI7|Q96QG1|Q96QG2	Silent	SNP	ENST00000381269.2	37	c.1413C>T	CCDS35498.1																																																																																				0.512	SLC8A3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390736.1			73	94	0	0	0	1	0	73	94					A	70633727	G	A	70633727	2	1	408	1	0	0	0	0	0	0	0	1	14708	1136	40	1		1	SLC8A3	14	70633727	Silent	SNP	G	TCGA-VN-A943-01A-11D-A41K-08		70633727	36715813	23	19837											
ELMO3	1874	broad.mit.edu	37	chr16	67233242	67233242	+	IGR	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctggaccatggcgcctccgCggaacgtggtgaagattgcc	7	7	15	12	4	0	2	0	1	0	1	1	4	1	4	4	4	2	1	4	4	2	1			TCGA-VN-A943-01A-11D-A41K-08	TCGA-VN-A943-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1befde85-bf60-46a5-88b0-f6319b14a2fe	ac89aa0d-1731-4467-9eb3-57726a089b7f	g.chr16:67233242C>T	ENST00000379378.3	+	0	2096				MIR328_ENST00000385213.1_RNA|ELMO3_ENST00000477898.1_5'Flank|ELMO3_ENST00000393997.2_Missense_Mutation_p.R58W|ELMO3_ENST00000360833.1_Missense_Mutation_p.R58W	NM_001950.3	NP_001941.2	Q16254	E2F4_HUMAN	E2F transcription factor 4, p107/p130-binding						blood circulation (GO:0008015)|cell volume homeostasis (GO:0006884)|cilium assembly (GO:0042384)|epithelial cell development (GO:0002064)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|organ morphogenesis (GO:0009887)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell proliferation (GO:0042127)|regulation of cell size (GO:0008361)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|protein domain specific binding (GO:0019904)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			breast(4)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)	11		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.000697)|Epithelial(162;0.00303)|all cancers(182;0.0325)		GGCGCCTCCGCGGAACGTGGT	0.682																																						ENST00000393997.2																			0				cervix(2)|kidney(4)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(3)	18						c.(172-174)Cgg>Tgg		engulfment and cell motility 3							27	35	32					16																	67233242		2099	4215	6314	SO:0001628	intergenic_variant	79767				apoptosis|phagocytosis	cytoplasm|cytoskeleton	SH3 domain binding	g.chr16:67233242C>T	BC021050	CCDS32464.1	16q22.1	2014-05-06			ENSG00000205250	ENSG00000205250			3118	protein-coding gene	gene with protein product		600659				7958924, 7892279	Standard	NM_001950		Approved	E2F-4	uc002erz.3	Q16254	OTTHUMG00000172975		16.37:g.67233242C>T						ELMO3_ENST00000360833.1_Missense_Mutation_p.R58W	p.R58W	NM_024712.3	NP_078988.2	Q96BJ8	ELMO3_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00067)|Epithelial(162;0.00442)|all cancers(182;0.0417)	1	229	+		Ovarian(137;0.0563)	5					A6NGR8|B5BU56|Q12991|Q15328	Missense_Mutation	SNP	ENST00000379378.3	37	c.172C>T	CCDS32464.1	.	.	.	.	.	.	.	.	.	.	C	24.0	4.486097	0.84854	.	.	ENSG00000102890	ENST00000360833;ENST00000393997	T;T	0.15256	2.45;2.44	5.19	3.0	0.34707	.	0.308861	0.24915	U	0.034595	T	0.32436	0.0829	L	0.54323	1.7	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.66084	0.941;0.941	T	0.05971	-1.0853	10	0.72032	D	0.01	-23.8447	11.3358	0.49503	0.3408:0.6592:0.0:0.0	.	58;58	F8W9E7;Q96BJ8-3	.;.	W	58	ENSP00000354077:R58W;ENSP00000377566:R58W	ENSP00000354077:R58W	R	+	1	2	ELMO3	65790743	0.998000	0.40836	1.000000	0.80357	0.927000	0.56198	0.562000	0.23531	1.164000	0.42652	0.563000	0.77884	CGG		0.682	E2F4-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421565.1	NM_001950		3	24	0	0	0	1	0	3	24					T	67233242	C	T	67233242	1	4	408	0	1	0	0	0	0	0	0	0	5067	759	27	1		1	ELMO3	16	67233242	IGR	SNP	C	TCGA-VN-A943-01A-11D-A41K-08		67233242	23121511	24	19838											
ADAD2	161931	broad.mit.edu	37	chr16	84230300	84230300	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgcaaggcctcctttctccGggcctttcaccaggcggcca	5	9	10	17	2	2	0	1	0	1	0	4	0	3	0	6	4	1	1	6	4	1	2	rs142962765	byFrequency	TCGA-VN-A943-01A-11D-A41K-08	TCGA-VN-A943-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1befde85-bf60-46a5-88b0-f6319b14a2fe	ac89aa0d-1731-4467-9eb3-57726a089b7f	g.chr16:84230300G>A	ENST00000315906.5	+	9	1626	c.1574G>A	c.(1573-1575)cGg>cAg	p.R525Q	RP11-486L19.2_ENST00000536986.1_RNA|RP11-486L19.2_ENST00000565643.1_RNA|RP11-486L19.2_ENST00000569834.1_RNA|ADAD2_ENST00000268624.3_Missense_Mutation_p.R607Q|RP11-486L19.2_ENST00000561900.1_RNA	NM_001145400.1	NP_001138872.1	Q8NCV1	ADAD2_HUMAN	adenosine deaminase domain containing 2	525	A to I editase. {ECO:0000255|PROSITE- ProRule:PRU00240}.				RNA processing (GO:0006396)		adenosine deaminase activity (GO:0004000)|RNA binding (GO:0003723)	p.R607Q(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)|skin(1)	13						TCCTTTCTCCGGGCCTTTCAC	0.637													G|||	4	0.000798722	0	0	5008	,	,		17185	0		0.004	False		,,,				2504	0					ENST00000268624.3																			1	Substitution - Missense(1)	p.R607Q(1)	prostate(1)	NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)|skin(1)	13						c.(1819-1821)cGg>cAg		adenosine deaminase domain containing 2		G	GLN/ARG,GLN/ARG	2,4398	4.2+/-10.8	0,2,2198	75	79	78		1574,1820	2	0.4	16	dbSNP_134	78	9,8591	7.1+/-27.0	0,9,4291	yes	missense,missense	ADAD2	NM_001145400.1,NM_139174.3	43,43	0,11,6489	AA,AG,GG		0.1047,0.0455,0.0846	possibly-damaging,possibly-damaging	525/584,607/666	84230300	11,12989	2200	4300	6500	SO:0001583	missense	161931				RNA processing	intracellular	adenosine deaminase activity|double-stranded RNA binding	g.chr16:84230300G>A	AF447586	CCDS10944.1, CCDS45536.1	16q24.1	2007-05-31			ENSG00000140955	ENSG00000140955			30714	protein-coding gene	gene with protein product							Standard	NM_139174		Approved	TENRL, FLJ00337	uc002fhr.2	Q8NCV1	OTTHUMG00000137637	ENST00000315906.5:c.1574G>A	16.37:g.84230300G>A	ENSP00000325153:p.Arg525Gln					RP11-486L19.2_ENST00000565643.1_RNA|RP11-486L19.2_ENST00000569834.1_RNA|ADAD2_ENST00000315906.5_Missense_Mutation_p.R525Q|RP11-486L19.2_ENST00000536986.1_RNA	p.R607Q	NM_139174.3	NP_631913.3	Q8NCV1	ADAD2_HUMAN			10	1913	+			525					B2RCL6|Q8NA94	Missense_Mutation	SNP	ENST00000315906.5	37	c.1820G>A	CCDS45536.1	3	0.0013736263736263737	0	0.0	0	0.0	0	0.0	3	0.00395778364116095	G	6.365	0.435480	0.12045	4.55E-4	0.001047	ENSG00000140955	ENST00000315906;ENST00000268624	D;D	0.93426	-3.22;-3.22	5.27	1.96	0.26148	Adenosine deaminase/editase (2);	0.401901	0.24016	N	0.042340	D	0.83105	0.5182	L	0.33485	1.01	0.09310	N	1	B;P	0.36048	0.147;0.534	B;B	0.24541	0.053;0.054	T	0.72232	-0.4353	10	0.27785	T	0.31	-5.7823	3.3523	0.07156	0.0954:0.1771:0.5583:0.1693	.	525;607	Q8NCV1;Q8NCV1-2	ADAD2_HUMAN;.	Q	525;607	ENSP00000325153:R525Q;ENSP00000268624:R607Q	ENSP00000268624:R607Q	R	+	2	0	ADAD2	82787801	0.002000	0.14202	0.385000	0.26158	0.010000	0.07245	0.075000	0.14686	0.562000	0.29204	0.585000	0.79938	CGG		0.637	ADAD2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433385.1	NM_139174		26	38	0	0	0	1	0	26	38					A	84230300	G	A	84230300	3	1	408	1	0	0	0	0	1	0	0	0	232	1116	39	2	1858	2	ADAD2	16	84230300	Missense_Mutation	SNP	G	TCGA-VN-A943-01A-11D-A41K-08	16997058	84230300	6124453	25	19839											
FAM134C	162427	broad.mit.edu	37	chr17	40734779	40734779	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gacttcagcgtctgagtgctCagagtctgtgatggccaatt	8	12	12	9	1	4	3	2	2	2	1	4	4	4	3	1	1	2	1	1	1	1	2			TCGA-VN-A943-01A-11D-A41K-08	TCGA-VN-A943-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1befde85-bf60-46a5-88b0-f6319b14a2fe	ac89aa0d-1731-4467-9eb3-57726a089b7f	g.chr17:40734779C>G	ENST00000309428.5	-	8	915	c.856G>C	c.(856-858)Gag>Cag	p.E286Q	FAM134C_ENST00000543197.1_Missense_Mutation_p.E91Q|FAM134C_ENST00000585894.1_Missense_Mutation_p.E189Q	NM_178126.3	NP_835227.1	Q86VR2	F134C_HUMAN	family with sequence similarity 134, member C	286						integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(3)|liver(1)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	11		Breast(137;0.00116)		BRCA - Breast invasive adenocarcinoma(366;0.134)		TCTGAGTGCTCAGAGTCTGTG	0.493																																						ENST00000309428.5																			0				endometrium(1)|large_intestine(3)|liver(1)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	11						c.(856-858)Gag>Cag		family with sequence similarity 134, member C							184	173	177					17																	40734779		2203	4300	6503	SO:0001583	missense	162427					integral to membrane		g.chr17:40734779C>G	BC049370	CCDS11432.1	17q21.2	2007-05-01							27258	protein-coding gene	gene with protein product						12477932	Standard	NM_178126		Approved	DKFZp686B1036, FLJ33806	uc002ial.2	Q86VR2		ENST00000309428.5:c.856G>C	17.37:g.40734779C>G	ENSP00000309432:p.Glu286Gln					FAM134C_ENST00000585894.1_Missense_Mutation_p.E189Q|FAM134C_ENST00000543197.1_Missense_Mutation_p.E91Q	p.E286Q	NM_178126.3	NP_835227.1	Q86VR2	F134C_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.134)	8	915	-		Breast(137;0.00116)	286					B3KR75	Missense_Mutation	SNP	ENST00000309428.5	37	c.856G>C	CCDS11432.1	.	.	.	.	.	.	.	.	.	.	C	35	5.507396	0.96386	.	.	ENSG00000141699	ENST00000309428;ENST00000543197	T;T	0.59083	0.29;0.33	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.78349	0.4269	M	0.76328	2.33	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.77571	-0.2538	10	0.66056	D	0.02	-10.062	20.8794	0.99867	0.0:1.0:0.0:0.0	.	286	Q86VR2	F134C_HUMAN	Q	286;91	ENSP00000309432:E286Q;ENSP00000446235:E91Q	ENSP00000309432:E286Q	E	-	1	0	FAM134C	37988305	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.461000	0.80834	2.941000	0.99782	0.655000	0.94253	GAG		0.493	FAM134C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450536.1	NM_178126		5	134	0	0	0	1	0	5	134					G	40734779	C	G	40734779	3	3	408	1	0	0	0	0	1	0	0	0	5447	835	29	5	552	5	FAM134C	17	40734779	Missense_Mutation	SNP	C	TCGA-VN-A943-01A-11D-A41K-08		40734779	40460431	26	19840											
C19orf28	126321	broad.mit.edu	37	chr19	3551146	3551146	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gtggccgccccacagcccagGcaggggctgaagatgaaggg	9	3	17	12	1	0	3	0	2	0	1	0	3	0	3	4	5	1	2	4	5	2	0			TCGA-VN-A943-01A-11D-A41K-08	TCGA-VN-A943-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1befde85-bf60-46a5-88b0-f6319b14a2fe	ac89aa0d-1731-4467-9eb3-57726a089b7f	g.chr19:3551146G>A	ENST00000355415.2	-	2	514	c.345C>T	c.(343-345)tgC>tgT	p.C115C	AC005786.7_ENST00000589360.1_RNA|MFSD12_ENST00000389395.3_Silent_p.C115C|MFSD12_ENST00000398558.4_Silent_p.C115C|MFSD12_ENST00000591878.1_5'UTR	NM_174983.3	NP_778148.2	Q6NUT3	MFS12_HUMAN	major facilitator superfamily domain containing 12	115					transport (GO:0006810)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)				cervix(1)|endometrium(2)|lung(4)|urinary_tract(2)	9						CACAGCCCAGGCAGGGGCTGA	0.667																																						ENST00000355415.2																			0				cervix(1)|endometrium(2)|lung(4)|urinary_tract(2)	9						c.(343-345)tgC>tgT		major facilitator superfamily domain containing 12							25	31	29					19																	3551146		2058	4196	6254	SO:0001819	synonymous_variant	126321				transmembrane transport	integral to membrane		g.chr19:3551146G>A	AF218008	CCDS42465.1, CCDS74256.1	19p13.3	2012-03-09	2011-11-24	2011-11-24	ENSG00000161091	ENSG00000161091			28299	protein-coding gene	gene with protein product			"chromosome 19 open reading frame 28"	C19orf28		12477932	Standard	NM_174983		Approved	MGC20700, PP3501	uc002lxw.3	Q6NUT3		ENST00000355415.2:c.345C>T	19.37:g.3551146G>A						AC005786.7_ENST00000589360.1_RNA|MFSD12_ENST00000591878.1_5'UTR|MFSD12_ENST00000389395.3_Silent_p.C115C|MFSD12_ENST00000398558.4_Silent_p.C115C	p.C115C	NM_174983.3	NP_778148.2	Q6NUT3	CS028_HUMAN			2	514	-			115					A8MXP7|D6W615|E9PAJ8|Q8N459	Silent	SNP	ENST00000355415.2	37	c.345C>T	CCDS42465.1																																																																																				0.667	MFSD12-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000452949.2	NM_174983		13	14	0	0	0	1	0	13	14					A	3551146	G	A	3551146	2	1	408	1	0	0	0	0	0	0	0	1	1917	1195	42	3		3	C19orf28	19	3551146	Silent	SNP	G	TCGA-VN-A943-01A-11D-A41K-08		3551146	55577837	27	19841											
ZNF208	7757	broad.mit.edu	37	chr19	22154884	22154884	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtttagtaaggattgagaaTgtactaaagcctttgccaca	13	13	9	6	0	0	1	0	1	0	1	0	3	0	2	2	1	3	3	2	1	6	7			TCGA-VN-A943-01A-11D-A41K-08	TCGA-VN-A943-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1befde85-bf60-46a5-88b0-f6319b14a2fe	ac89aa0d-1731-4467-9eb3-57726a089b7f	g.chr19:22154884T>C	ENST00000397126.4	-	4	3100	c.2952A>G	c.(2950-2952)acA>acG	p.T984T	ZNF208_ENST00000601773.1_Intron|ZNF208_ENST00000599916.1_Intron	NM_007153.3	NP_009084.2	O43345	ZN208_HUMAN	zinc finger protein 208	984					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				GGATTGAGAATGTACTAAAGC	0.358																																						ENST00000397126.4																			0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113						c.(2950-2952)acA>acG		zinc finger protein 208							53	57	55					19																	22154884		2094	4237	6331	SO:0001819	synonymous_variant	7757							g.chr19:22154884T>C	BC038199	CCDS54240.1	19p12	2013-01-08				ENSG00000160321		"Zinc fingers, C2H2-type", "-"	12999	protein-coding gene	gene with protein product	"zinc finger protein 95"	603977				9724325	Standard	NM_007153		Approved	PMIDP, ZNF95	uc021urr.1	O43345		ENST00000397126.4:c.2952A>G	19.37:g.22154884T>C						ZNF208_ENST00000599916.1_Intron|ZNF208_ENST00000601773.1_Intron	p.T984T	NM_007153.3	NP_009084.2					4	3100	-		all_lung(12;0.0961)|Lung NSC(12;0.103)							Silent	SNP	ENST00000397126.4	37	c.2952A>G	CCDS54240.1																																																																																				0.358	ZNF208-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464302.1	NM_007153		3	58	0	0	0	1	0	3	58					C	22154884	T	C	22154884	2	2	408	1	0	0	0	0	0	0	0	1	17763	1451	51	4		4	ZNF208	19	22154884	Silent	SNP	T	TCGA-VN-A943-01A-11D-A41K-08	18603738	22154884	36974099	28	19842											
XKR7	343702	broad.mit.edu	37	chr20	30584394	30584394	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gggactcgcgggacgacaagCggccgctgtcctacaagggc	8	4	16	13	5	0	0	0	0	0	0	2	3	1	2	2	4	2	1	2	4	3	1			TCGA-VN-A943-01A-11D-A41K-08	TCGA-VN-A943-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1befde85-bf60-46a5-88b0-f6319b14a2fe	ac89aa0d-1731-4467-9eb3-57726a089b7f	g.chr20:30584394C>T	ENST00000562532.2	+	3	1048	c.874C>T	c.(874-876)Cgg>Tgg	p.R292W		NM_001011718.1	NP_001011718.1	Q5GH72	XKR7_HUMAN	XK, Kell blood group complex subunit-related family, member 7	292						integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(19)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	34			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			GGACGACAAGCGGCCGCTGTC	0.682																																						ENST00000217299.3																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(19)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	34						c.(874-876)Cgg>Tgg		XK, Kell blood group complex subunit-related family, member 7							33	34	33					20																	30584394		2203	4300	6503	SO:0001583	missense	343702					integral to membrane		g.chr20:30584394C>T	AY534245	CCDS33459.1	20q11.21	2014-07-16	2006-01-12		ENSG00000260903	ENSG00000260903			23062	protein-coding gene	gene with protein product			"X Kell blood group precursor-related family, member 7", "chromosome 20 open reading frame 159"	C20orf159			Standard	NM_001011718		Approved	dJ310O13.4	uc002wxe.3	Q5GH72	OTTHUMG00000032198	ENST00000562532.2:c.874C>T	20.37:g.30584394C>T	ENSP00000477059:p.Arg292Trp						p.R292W	NM_001011718.1	NP_001011718.1	Q5GH72	XKR7_HUMAN	Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)		3	1048	+			292					Q9NUG5	Missense_Mutation	SNP	ENST00000562532.2	37	c.874C>T	CCDS33459.1	.	.	.	.	.	.	.	.	.	.	c	18.56	3.651249	0.67472	.	.	ENSG00000101321	ENST00000217299	T	0.64618	-0.11	5.04	4.07	0.47477	.	0.309753	0.30177	N	0.010234	T	0.66086	0.2754	L	0.43923	1.385	0.29981	N	0.817708	D	0.71674	0.998	P	0.56916	0.809	T	0.66540	-0.5898	10	0.87932	D	0	.	11.4299	0.50034	0.461:0.539:0.0:0.0	.	292	Q5GH72	XKR7_HUMAN	W	292	ENSP00000217299:R292W	ENSP00000217299:R292W	R	+	1	2	XKR7	30048055	0.970000	0.33590	1.000000	0.80357	0.921000	0.55340	0.534000	0.23098	1.079000	0.41038	0.556000	0.70494	CGG		0.682	XKR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078597.3	NM_001011718		4	39	0	0	0	1	0	4	39					T	30584394	C	T	30584394	3	4	408	1	0	0	0	0	1	0	0	0	17433	759	27	1	884	1	XKR7	20	30584394	Missense_Mutation	SNP	C	TCGA-VN-A943-01A-11D-A41K-08		30584394	32441126	29	19843											
KIAA0406	9675	broad.mit.edu	37	chr20	36641587	36641587	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcagtgcagttgagattccaGgtaaaaaagaggcaaacaaa	18	7	10	6	0	1	2	1	1	0	2	2	3	2	2	1	2	2	4	1	2	5	3			TCGA-VN-A943-01A-11D-A41K-08	TCGA-VN-A943-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1befde85-bf60-46a5-88b0-f6319b14a2fe	ac89aa0d-1731-4467-9eb3-57726a089b7f	g.chr20:36641587G>C	ENST00000373448.2	-	3	870	c.632C>G	c.(631-633)cCt>cGt	p.P211R	TTI1_ENST00000487362.1_Intron|TTI1_ENST00000373447.3_Missense_Mutation_p.P211R|TTI1_ENST00000449821.1_Missense_Mutation_p.P211R	NM_014657.1	NP_055472.1	O43156	TTI1_HUMAN	TELO2 interacting protein 1	211					regulation of TOR signaling (GO:0032006)	cytoplasm (GO:0005737)|TORC1 complex (GO:0031931)|TORC2 complex (GO:0031932)				breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	47						TGAGATTCCAGGTAAAAAAGA	0.433																																						ENST00000373448.2																			0				breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	47						c.(631-633)cCt>cGt		TELO2 interacting protein 1							84	85	84					20																	36641587		2203	4300	6503	SO:0001583	missense	9675						binding	g.chr20:36641587G>C	BC013121	CCDS13300.1	20q11.23	2011-11-10	2011-11-10	2010-06-22	ENSG00000101407	ENSG00000101407			29029	protein-coding gene	gene with protein product	"smg-10 homolog, nonsense mediated mRNA decay factor (C. elegans)"	614425	"KIAA0406", "Tel2 interacting protein 1 homolog (S. pombe)"	KIAA0406		9455477, 20427287, 20371770	Standard	NM_014657		Approved	smg-10	uc002xhl.3	O43156	OTTHUMG00000032433	ENST00000373448.2:c.632C>G	20.37:g.36641587G>C	ENSP00000362547:p.Pro211Arg					TTI1_ENST00000487362.1_Intron|TTI1_ENST00000449821.1_Missense_Mutation_p.P211R|TTI1_ENST00000373447.3_Missense_Mutation_p.P211R	p.P211R	NM_014657.1	NP_055472.1	O43156	TTI1_HUMAN			3	870	-			211					D6W4K3|Q5JX67|Q96A38|Q9BR47|Q9H4K0	Missense_Mutation	SNP	ENST00000373448.2	37	c.632C>G	CCDS13300.1	.	.	.	.	.	.	.	.	.	.	G	13.67	2.305338	0.40795	.	.	ENSG00000101407	ENST00000373448;ENST00000373447;ENST00000449821	T;T;T	0.60299	0.2;0.2;0.2	5.45	4.51	0.55191	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.75339	0.3836	M	0.77103	2.36	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.79215	-0.1895	10	0.87932	D	0	-14.5463	13.417	0.60974	0.0745:0.0:0.9255:0.0	.	211	O43156	TTI1_HUMAN	R	211	ENSP00000362547:P211R;ENSP00000362546:P211R;ENSP00000407270:P211R	ENSP00000362546:P211R	P	-	2	0	TTI1	36075001	1.000000	0.71417	0.997000	0.53966	0.427000	0.31564	9.017000	0.93651	1.545000	0.49373	-0.142000	0.14014	CCT		0.433	TTI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079138.2	NM_014657		6	76	0	0	0	1	0	6	76					C	36641587	G	C	36641587	3	2	408	1	0	0	0	0	1	0	0	0	8173	1000	35	5	2665	5	KIAA0406	20	36641587	Missense_Mutation	SNP	G	TCGA-VN-A943-01A-11D-A41K-08	6057193	36641587	26383933	30	19844											
PRIC285	85441	broad.mit.edu	37	chr20	62200342	62200342	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cttcaggaacacctggccccGcagggtcagcctggcaggat	8	6	13	14	1	2	0	2	0	0	0	2	2	2	2	4	5	2	2	4	5	1	1			TCGA-VN-A943-01A-11D-A41K-08	TCGA-VN-A943-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1befde85-bf60-46a5-88b0-f6319b14a2fe	ac89aa0d-1731-4467-9eb3-57726a089b7f	g.chr20:62200342G>A	ENST00000467148.1	-	5	1168	c.1099C>T	c.(1099-1101)Cgg>Tgg	p.R367W	HELZ2_ENST00000479540.1_5'Flank|HELZ2_ENST00000427522.2_5'Flank	NM_001037335.2	NP_001032412.2	Q9BYK8	HELZ2_HUMAN	helicase with zinc finger 2, transcriptional coactivator	367					cellular lipid metabolic process (GO:0044255)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	membrane (GO:0016020)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)										ACCTGGCCCCGCAGGGTCAGC	0.692																																						ENST00000467148.1																			0											c.(1099-1101)Cgg>Tgg		helicase with zinc finger 2, transcriptional coactivator							31	33	32					20																	62200342		2169	4213	6382	SO:0001583	missense	85441							g.chr20:62200342G>A	AB201715	CCDS13527.1, CCDS33508.1	20q13.33	2012-09-26			ENSG00000130589	ENSG00000130589			30021	protein-coding gene	gene with protein product	"peroxisomal proliferator activated receptor A interacting complex 285", "PPARG-DBD-interacting protein 1"	611265				11214970, 12189208, 16239304	Standard	NM_001037335		Approved	PDIP1, PRIC285, KIAA1769	uc002yfm.2	Q9BYK8	OTTHUMG00000032969	ENST00000467148.1:c.1099C>T	20.37:g.62200342G>A	ENSP00000417401:p.Arg367Trp						p.R367W	NM_001037335.2	NP_001032412.2					5	1168	-								Q3C2G2|Q4VXQ1|Q8TEF3|Q96ND3|Q9C094	Missense_Mutation	SNP	ENST00000467148.1	37	c.1099C>T	CCDS33508.1	.	.	.	.	.	.	.	.	.	.	G	11.36	1.615066	0.28712	.	.	ENSG00000130589	ENST00000467148	T	0.23754	1.89	4.65	2.47	0.30058	.	0.625728	0.16826	N	0.197952	T	0.22936	0.0554	L	0.54323	1.7	0.09310	N	1	B	0.13145	0.007	B	0.08055	0.003	T	0.22730	-1.0208	10	0.87932	D	0	-20.6457	7.0914	0.25285	0.0809:0.0:0.5423:0.3768	.	367	Q9BYK8	PR285_HUMAN	W	367	ENSP00000417401:R367W	ENSP00000417401:R367W	R	-	1	2	RP4-697K14.7	61670786	0.214000	0.23563	0.009000	0.14445	0.022000	0.10575	2.962000	0.49176	0.252000	0.21531	-0.448000	0.05591	CGG		0.692	HELZ2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354127.1	NM_001037335		3	29	0	0	0	1	0	3	29					A	62200342	G	A	62200342	3	1	408	1	0	0	0	0	1	0	0	0	12485	1086	38	1	6933	1	PRIC285	20	62200342	Missense_Mutation	SNP	G	TCGA-VN-A943-01A-11D-A41K-08	25558755	62200342	825178	31	19845											
KRTAP19-4	337971	broad.mit.edu	37	chr21	31869332	31869332	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acagccataacccagtctgcGgaagctgccacatccacagc	12	5	8	16	1	1	0	0	0	1	0	2	1	2	1	4	1	6	1	4	1	2	1			TCGA-VN-A943-01A-11D-A41K-08	TCGA-VN-A943-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1befde85-bf60-46a5-88b0-f6319b14a2fe	ac89aa0d-1731-4467-9eb3-57726a089b7f	g.chr21:31869332G>A	ENST00000334058.2	-	1	119	c.97C>T	c.(97-99)Cgc>Tgc	p.R33C		NM_181610.1	NP_853641.1	Q3LI73	KR194_HUMAN	keratin associated protein 19-4	33						intermediate filament (GO:0005882)		p.R33C(1)		central_nervous_system(1)|large_intestine(2)|lung(1)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	9						CCCAGTCTGCGGAAGCTGCCA	0.532																																						ENST00000334058.2																			1	Substitution - Missense(1)	p.R33C(1)	central_nervous_system(1)	central_nervous_system(1)|large_intestine(2)|lung(1)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	9						c.(97-99)Cgc>Tgc		keratin associated protein 19-4							126	130	129					21																	31869332		2203	4300	6503	SO:0001583	missense	337971					intermediate filament		g.chr21:31869332G>A	AP001708	CCDS33534.1	21q22.1	2011-02-10			ENSG00000186967	ENSG00000186967		"Keratin associated proteins"	18939	protein-coding gene	gene with protein product						12359730	Standard	NM_181610		Approved	KAP19.4	uc011acz.2	Q3LI73	OTTHUMG00000057767	ENST00000334058.2:c.97C>T	21.37:g.31869332G>A	ENSP00000335567:p.Arg33Cys						p.R33C	NM_181610.1	NP_853641.1	Q3LI73	KR194_HUMAN			1	119	-			33					Q17RT4|Q17RT6	Missense_Mutation	SNP	ENST00000334058.2	37	c.97C>T	CCDS33534.1	.	.	.	.	.	.	.	.	.	.	G	5.415	0.261727	0.10239	.	.	ENSG00000186967	ENST00000334058	T	0.10477	2.87	4.54	-1.56	0.08532	.	.	.	.	.	T	0.13072	0.0317	.	.	.	0.09310	N	1	D	0.56035	0.974	P	0.48114	0.567	T	0.16928	-1.0386	8	0.87932	D	0	.	7.3204	0.26523	0.0:0.2703:0.2662:0.4635	.	33	Q3LI73	KR194_HUMAN	C	33	ENSP00000335567:R33C	ENSP00000335567:R33C	R	-	1	0	KRTAP19-4	30791203	0.000000	0.05858	0.000000	0.03702	0.421000	0.31385	-0.849000	0.04322	-0.393000	0.07739	0.585000	0.79938	CGC		0.532	KRTAP19-4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128219.2			4	118	0	0	0	1	0	4	118					A	31869332	G	A	31869332	3	1	408	1	0	0	0	0	1	0	0	0	8531	1116	39	2	160	2	KRTAP19-4	21	31869332	Missense_Mutation	SNP	G	TCGA-VN-A943-01A-11D-A41K-08		31869332	16260563	32	19846											
CRYBB2	1415	broad.mit.edu	37	chr22	25627656	25627656	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aggacagcagcgactttgggGcccctcacccccaggtgcag	8	5	13	15	1	1	0	1	0	0	0	1	2	1	1	4	4	3	2	4	4	0	1			TCGA-VN-A943-01A-11D-A41K-08	TCGA-VN-A943-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1befde85-bf60-46a5-88b0-f6319b14a2fe	ac89aa0d-1731-4467-9eb3-57726a089b7f	g.chr22:25627656G>T	ENST00000398215.2	+	6	706	c.535G>T	c.(535-537)Gcc>Tcc	p.A179S		NM_000496.2	NP_000487.1	P43320	CRBB2_HUMAN	crystallin, beta B2	179	Beta/gamma crystallin 'Greek key' 4. {ECO:0000255|PROSITE-ProRule:PRU00028}.				camera-type eye development (GO:0043010)|response to stimulus (GO:0050896)|visual perception (GO:0007601)		identical protein binding (GO:0042802)|structural constituent of eye lens (GO:0005212)|structural molecule activity (GO:0005198)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)	10						CGACTTTGGGGCCCCTCACCC	0.652																																						ENST00000398215.2																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)	10						c.(535-537)Gcc>Tcc		crystallin, beta B2							110	94	100					22																	25627656		2203	4300	6503	SO:0001583	missense	1415				response to stimulus|visual perception		structural constituent of eye lens	g.chr22:25627656G>T		CCDS13831.1	22q11.23	2008-06-10			ENSG00000244752	ENSG00000244752			2398	protein-coding gene	gene with protein product		123620		CCA2, CRYB2A, CRYB2		9158139, 8224918	Standard	XM_006724141		Approved		uc003abp.1	P43320	OTTHUMG00000150905	ENST00000398215.2:c.535G>T	22.37:g.25627656G>T	ENSP00000381273:p.Ala179Ser						p.A179S	NM_000496.2	NP_000487.1	P43320	CRBB2_HUMAN			6	706	+			179			Beta/gamma crystallin 'Greek key' 4.		Q9UCM8	Missense_Mutation	SNP	ENST00000398215.2	37	c.535G>T	CCDS13831.1	.	.	.	.	.	.	.	.	.	.	g	14.55	2.568022	0.45798	.	.	ENSG00000244752	ENST00000398215	T	0.78481	-1.18	3.98	3.98	0.46160	Beta/gamma crystallin (4);Gamma-crystallin-related (1);	.	.	.	.	D	0.85643	0.5744	M	0.64404	1.975	0.80722	D	1	D	0.71674	0.998	D	0.87578	0.998	D	0.86585	0.1856	9	0.51188	T	0.08	.	15.0574	0.71925	0.0:0.0:1.0:0.0	.	179	P43320	CRBB2_HUMAN	S	179	ENSP00000381273:A179S	ENSP00000381273:A179S	A	+	1	0	CRYBB2	23957656	1.000000	0.71417	1.000000	0.80357	0.014000	0.08584	5.284000	0.65627	1.763000	0.52060	0.462000	0.41574	GCC		0.652	CRYBB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320350.1	NM_000496		36	41	1	0	1.06647e-15	1	1.27456e-15	36	41					T	25627656	G	T	25627656	3	4	408	1	0	0	0	0	1	0	0	0	3911	1203	42	5	553	5	CRYBB2	22	25627656	Missense_Mutation	SNP	G	TCGA-VN-A943-01A-11D-A41K-08		25627656	25676910	33	19847											
SHROOM4	57477	broad.mit.edu	37	chrX	50377643	50377643	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	acctgtcatccacttgtctgGtctttctttctttgctggac	4	18	7	12	0	5	0	1	0	4	0	6	1	6	1	2	2	1	1	2	2	0	4			TCGA-VN-A943-01A-11D-A41K-08	TCGA-VN-A943-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1befde85-bf60-46a5-88b0-f6319b14a2fe	ac89aa0d-1731-4467-9eb3-57726a089b7f	g.chrX:50377643G>T	ENST00000289292.7	-	4	1713	c.1430C>A	c.(1429-1431)aCc>aAc	p.T477N	SHROOM4_ENST00000376020.2_Missense_Mutation_p.T477N|SHROOM4_ENST00000460112.3_Missense_Mutation_p.T361N			Q9ULL8	SHRM4_HUMAN	shroom family member 4	477					actin cytoskeleton organization (GO:0030036)|actin filament organization (GO:0007015)|brain development (GO:0007420)|cognition (GO:0050890)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|myosin II complex (GO:0016460)|stress fiber (GO:0001725)	actin filament binding (GO:0051015)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	52	Ovarian(276;0.236)					CACTTGTCTGGTCTTTCTTTC	0.527																																						ENST00000376020.2																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	52						c.(1429-1431)aCc>aAc		shroom family member 4							125	108	114					X																	50377643		2203	4300	6503	SO:0001583	missense	57477				actin filament organization|brain development|cell morphogenesis|cognition	apical plasma membrane|basal plasma membrane|internal side of plasma membrane|nucleus	actin filament binding	g.chrX:50377643G>T	AB033028	CCDS35277.1	Xp11.22	2008-02-05			ENSG00000158352	ENSG00000158352			29215	protein-coding gene	gene with protein product		300579				10574462, 16615870	Standard	NR_027121		Approved	KIAA1202	uc004dpe.2	Q9ULL8	OTTHUMG00000021521	ENST00000289292.7:c.1430C>A	X.37:g.50377643G>T	ENSP00000289292:p.Thr477Asn					SHROOM4_ENST00000460112.3_Missense_Mutation_p.T361N|SHROOM4_ENST00000289292.7_Missense_Mutation_p.T477N	p.T477N	NM_020717.3	NP_065768.2	Q9ULL8	SHRM4_HUMAN			4	1455	-	Ovarian(276;0.236)		477					A7E2X9|D6RFW0|Q96LA0	Missense_Mutation	SNP	ENST00000289292.7	37	c.1430C>A	CCDS35277.1	.	.	.	.	.	.	.	.	.	.	G	0.013	-1.632366	0.00806	.	.	ENSG00000158352	ENST00000289292;ENST00000376020;ENST00000460112	T;T;T	0.14391	2.93;2.93;2.51	5.33	-2.24	0.06909	.	0.986592	0.08260	N	0.973238	T	0.09818	0.0241	L	0.51422	1.61	0.09310	N	1	B	0.14438	0.01	B	0.09377	0.004	T	0.41574	-0.9501	10	0.27082	T	0.32	.	1.126	0.01735	0.4267:0.1197:0.2444:0.2092	.	477	Q9ULL8	SHRM4_HUMAN	N	477;477;361	ENSP00000289292:T477N;ENSP00000365188:T477N;ENSP00000421450:T361N	ENSP00000289292:T477N	T	-	2	0	SHROOM4	50394383	0.000000	0.05858	0.000000	0.03702	0.048000	0.14542	0.194000	0.17135	-0.252000	0.09528	-0.208000	0.12717	ACC		0.527	SHROOM4-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056564.4	NM_020717		54	5	1	0	2.48254e-18	1	3.04111e-18	54	5					T	50377643	G	T	50377643	3	4	408	1	0	0	0	0	1	0	0	0	14296	1261	44	5	3075	5	SHROOM4	23	50377643	Missense_Mutation	SNP	G	TCGA-VN-A943-01A-11D-A41K-08		50377643	104892917	34	19848											
MAGEC1	9947	broad.mit.edu	37	chrX	140995016	140995016	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaggactccatgtctcctcTctactttcctcagagtcctc	6	13	7	15	0	3	1	1	0	2	1	9	3	6	3	4	2	1	0	4	2	1	2			TCGA-VN-A943-01A-11D-A41K-08	TCGA-VN-A943-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1befde85-bf60-46a5-88b0-f6319b14a2fe	ac89aa0d-1731-4467-9eb3-57726a089b7f	g.chrX:140995016T>A	ENST00000285879.4	+	4	2112	c.1826T>A	c.(1825-1827)cTc>cAc	p.L609H	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	609										breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					ATGTCTCCTCTCTACTTTCCT	0.572										HNSCC(15;0.026)																												ENST00000285879.4																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127						c.(1825-1827)cTc>cAc		melanoma antigen family C, 1							193	205	201					X																	140995016		2203	4300	6503	SO:0001583	missense	9947						protein binding	g.chrX:140995016T>A	AF064589	CCDS35417.1	Xq26	2009-03-18			ENSG00000155495	ENSG00000155495			6812	protein-coding gene	gene with protein product	"cancer/testis antigen family 7, member 1"	300223				9485030, 9618514	Standard	NM_005462		Approved	MAGE-C1, CT7, MGC39366, CT7.1	uc004fbt.3	O60732	OTTHUMG00000022569	ENST00000285879.4:c.1826T>A	X.37:g.140995016T>A	ENSP00000285879:p.Leu609His	HNSCC(15;0.026)				MAGEC1_ENST00000406005.2_Intron	p.L609H	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN			4	2112	+	Acute lymphoblastic leukemia(192;6.56e-05)		609					A0PK03|O75451|Q8TCV4	Missense_Mutation	SNP	ENST00000285879.4	37	c.1826T>A	CCDS35417.1	.	.	.	.	.	.	.	.	.	.	t	0.021	-1.420247	0.01136	.	.	ENSG00000155495	ENST00000285879	T	0.02280	4.36	0.96	-1.92	0.07618	.	.	.	.	.	T	0.01254	0.0041	N	0.08118	0	0.18873	N	0.999981	B	0.13594	0.008	B	0.12156	0.007	T	0.44651	-0.9314	9	0.41790	T	0.15	.	3.46	0.07529	0.6118:0.1904:0.0:0.1978	.	609	O60732	MAGC1_HUMAN	H	609	ENSP00000285879:L609H	ENSP00000285879:L609H	L	+	2	0	MAGEC1	140822682	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	-2.882000	0.00714	-3.326000	0.00186	-3.493000	0.00034	CTC		0.572	MAGEC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058604.1	NM_005462		4	146	0	0	0	1	0	4	146					A	140995016	T	A	140995016	3	1	408	1	0	0	0	0	1	0	0	0	9180	1551	54	5	1832	5	MAGEC1	23	140995016	Missense_Mutation	SNP	T	TCGA-VN-A943-01A-11D-A41K-08	90617373	140995016	14275544	35	19849											
OPN1LW	5956	broad.mit.edu	37	chrX	153420113	153420113	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcagcggcagctcgtaccccGgggtgcagtcttacatgatt	7	10	12	12	3	2	1	1	1	1	0	3	1	2	1	2	3	5	4	2	3	2	3			TCGA-VN-A943-01A-11D-A41K-08	TCGA-VN-A943-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1befde85-bf60-46a5-88b0-f6319b14a2fe	ac89aa0d-1731-4467-9eb3-57726a089b7f	g.chrX:153420113G>A	ENST00000369951.4	+	4	703	c.643G>A	c.(643-645)Ggg>Agg	p.G215R	OPN1LW_ENST00000463296.1_Intron	NM_020061.4	NP_064445.2	P04000	OPSR_HUMAN	opsin 1 (cone pigments), long-wave-sensitive	215					phototransduction, visible light (GO:0007603)|positive regulation of cytokinesis (GO:0032467)|protein-chromophore linkage (GO:0018298)|retinoid metabolic process (GO:0001523)|signal transduction (GO:0007165)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|photoreceptor outer segment membrane (GO:0042622)	G-protein coupled receptor activity (GO:0004930)|photoreceptor activity (GO:0009881)			endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|skin(1)	15	all_cancers(53;1.83e-16)|all_epithelial(53;2.73e-10)|all_lung(58;6.39e-07)|Lung NSC(58;8.37e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CTCGTACCCCGGGGTGCAGTC	0.607																																						ENST00000369951.4																			0				endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|skin(1)	15						c.(643-645)Ggg>Agg		opsin 1 (cone pigments), long-wave-sensitive							144	104	118					X																	153420113		2183	4240	6423	SO:0001583	missense	5956				phototransduction|protein-chromophore linkage|visual perception	integral to plasma membrane	G-protein coupled receptor activity|photoreceptor activity	g.chrX:153420113G>A	Z68193	CCDS14742.1	Xq28	2013-01-08	2008-04-16		ENSG00000102076	ENSG00000102076		"GPCR / Class A : Opsin receptors"	9936	protein-coding gene	gene with protein product	"cone dystrophy 5 (X-linked)"	300822	"color blindness, protan", "red cone photoreceptor pigment"	CBBM, RCP, CBP			Standard	NM_020061		Approved	COD5	uc004fjz.4	P04000	OTTHUMG00000034295	ENST00000369951.4:c.643G>A	X.37:g.153420113G>A	ENSP00000358967:p.Gly215Arg					OPN1LW_ENST00000463296.1_Intron	p.G215R	NM_020061.4	NP_064445.1	P04000	OPSR_HUMAN			4	703	+	all_cancers(53;1.83e-16)|all_epithelial(53;2.73e-10)|all_lung(58;6.39e-07)|Lung NSC(58;8.37e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)		215						Missense_Mutation	SNP	ENST00000369951.4	37	c.643G>A	CCDS14742.1	.	.	.	.	.	.	.	.	.	.	G	19.26	3.793778	0.70452	.	.	ENSG00000102076	ENST00000369951;ENST00000442922	T;T	0.37058	1.22;1.22	4.27	4.27	0.50696	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.52709	0.1751	L	0.49571	1.57	0.58432	D	0.999999	D	0.89917	1.0	D	0.79784	0.993	T	0.50964	-0.8765	10	0.38643	T	0.18	.	15.1182	0.72419	0.0:0.0:1.0:0.0	.	215	P04000	OPSR_HUMAN	R	215;78	ENSP00000358967:G215R;ENSP00000402493:G78R	ENSP00000358967:G215R	G	+	1	0	OPN1LW	153073307	1.000000	0.71417	0.450000	0.26969	0.509000	0.34042	4.292000	0.59031	1.888000	0.54679	0.372000	0.22366	GGG		0.607	OPN1LW-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000082839.2	NM_020061		30	34	0	0	0	1	0	30	34					A	153420113	G	A	153420113	3	1	408	1	0	0	0	0	1	0	0	0	10877	1116	39	2	657	2	OPN1LW	23	153420113	Missense_Mutation	SNP	G	TCGA-VN-A943-01A-11D-A41K-08	12425097	153420113	1850447	36	19850											
GLIS1	148979	broad.mit.edu	37	chr1	53995493	53995493	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgggtgcgctggtgcttggCgcggtcgctggagttgctga	2	11	20	8	4	0	1	0	1	0	0	1	2	0	2	0	5	3	5	0	5	0	2			TCGA-VP-A872-01A-11D-A34U-08	TCGA-VP-A872-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a653276f-248d-4ffc-9198-d713cdcee5bd	b941d9f4-c0bf-4f8c-8360-2d69964f2e8a	g.chr1:53995493C>T	ENST00000312233.2	-	4	1494	c.928G>A	c.(928-930)Gcc>Acc	p.A310T		NM_147193.2	NP_671726.2			GLIS family zinc finger 1											endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|skin(3)|urinary_tract(4)	24						TGGTGCTTGGCGCGGTCGCTG	0.647																																						ENST00000312233.2																			0				endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|skin(3)|urinary_tract(4)	24						c.(928-930)Gcc>Acc		GLIS family zinc finger 1							84	85	84					1																	53995493		2203	4300	6503	SO:0001583	missense	148979				negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding	g.chr1:53995493C>T	AK093474	CCDS582.1	1p32.3	2008-02-05			ENSG00000174332	ENSG00000174332		"Zinc fingers, C2H2-type"	29525	protein-coding gene	gene with protein product		610378				12042312, 14500813	Standard	NM_147193		Approved	FLJ36155	uc001cvr.1	Q8NBF1	OTTHUMG00000008079	ENST00000312233.2:c.928G>A	1.37:g.53995493C>T	ENSP00000309653:p.Ala310Thr						p.A310T	NM_147193.2	NP_671726.2	Q8NBF1	GLIS1_HUMAN			4	1494	-			310						Missense_Mutation	SNP	ENST00000312233.2	37	c.928G>A	CCDS582.1	.	.	.	.	.	.	.	.	.	.	C	36	5.641909	0.96704	.	.	ENSG00000174332	ENST00000312233	T	0.36157	1.27	4.58	4.58	0.56647	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.47455	D	0.000231	T	0.27098	0.0664	N	0.13043	0.29	0.80722	D	1	D	0.67145	0.996	B	0.43082	0.407	T	0.21280	-1.0250	10	0.62326	D	0.03	.	17.7575	0.88453	0.0:1.0:0.0:0.0	.	310	Q8NBF1	GLIS1_HUMAN	T	310	ENSP00000309653:A310T	ENSP00000309653:A310T	A	-	1	0	GLIS1	53768081	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.776000	0.85560	2.271000	0.75665	0.491000	0.48974	GCC		0.647	GLIS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022109.1	NM_147193		3	64	0	0	0	1	0	3	64					T	53995493	C	T	53995493	3	4	409	1	0	0	0	0	1	0	0	0	6445	768	27	1	962	1	GLIS1	1	53995493	Missense_Mutation	SNP	C	TCGA-VP-A872-01A-11D-A34U-08		53995493	195255128	1	19851											
TPR	7175	broad.mit.edu	37	chr1	186304579	186304579	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cttcatattgggactttagcGcagtaatgcgaacatccaat	12	12	8	9	2	1	0	1	0	0	0	2	2	2	1	1	1	3	2	1	1	5	6			TCGA-VP-A872-01A-11D-A34U-08	TCGA-VP-A872-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a653276f-248d-4ffc-9198-d713cdcee5bd	b941d9f4-c0bf-4f8c-8360-2d69964f2e8a	g.chr1:186304579G>A	ENST00000367478.4	-	34	5098	c.4802C>T	c.(4801-4803)gCg>gTg	p.A1601V		NM_003292.2	NP_003283.2	P12270	TPR_HUMAN	translocated promoter region, nuclear basket protein	1601					carbohydrate metabolic process (GO:0005975)|cellular response to heat (GO:0034605)|cellular response to interferon-alpha (GO:0035457)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|MAPK import into nucleus (GO:0000189)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope disassembly (GO:0007077)|mitotic spindle assembly checkpoint (GO:0007094)|mRNA export from nucleus in response to heat stress (GO:0031990)|negative regulation of RNA export from nucleus (GO:0046832)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of translational initiation (GO:0045947)|nuclear pore organization (GO:0006999)|positive regulation of heterochromatin assembly (GO:0031453)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090267)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of protein import into nucleus (GO:0042307)|protein import into nucleus (GO:0006606)|regulation of glucose transport (GO:0010827)|regulation of mitotic sister chromatid separation (GO:0010965)|regulation of spindle assembly involved in mitosis (GO:1901673)|response to epidermal growth factor (GO:0070849)|RNA export from nucleus (GO:0006405)|RNA import into nucleus (GO:0006404)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoplasmic dynein complex (GO:0005868)|extrinsic component of membrane (GO:0019898)|kinetochore (GO:0000776)|mitotic spindle (GO:0072686)|nuclear envelope (GO:0005635)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|dynein complex binding (GO:0070840)|heat shock protein binding (GO:0031072)|mitogen-activated protein kinase binding (GO:0051019)|mRNA binding (GO:0003729)|nucleocytoplasmic transporter activity (GO:0005487)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|tubulin binding (GO:0015631)	p.A1602V(1)|p.A1601V(1)		autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(9)|kidney(12)|large_intestine(23)|liver(1)|lung(45)|ovary(2)|pancreas(1)|prostate(6)|skin(3)|stomach(1)|urinary_tract(8)	123		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)		GGACTTTAGCGCAGTAATGCG	0.423			T	NTRK1	papillary thyroid																																	ENST00000367478.3				Dom	yes		1	1q25	7175	T	translocated promoter region			E	NTRK1		papillary thyroid		2	Substitution - Missense(2)	p.A1602V(1)|p.A1601V(1)	urinary_tract(2)	autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(9)|kidney(12)|large_intestine(23)|liver(1)|lung(45)|ovary(2)|pancreas(1)|prostate(6)|skin(3)|stomach(1)|urinary_tract(8)	123						c.(4801-4803)gCg>gTg		translocated promoter region, nuclear basket protein							173	153	159					1																	186304579		1878	4116	5994	SO:0001583	missense	7175				carbohydrate metabolic process|glucose transport|mitotic cell cycle spindle assembly checkpoint|mRNA transport|protein import into nucleus|regulation of glucose transport|seryl-tRNA aminoacylation|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytoplasm|nuclear membrane|nuclear pore|nucleoplasm	ATP binding|protein binding|serine-tRNA ligase activity	g.chr1:186304579G>A	U69668	CCDS41446.1	1q25	2012-03-13	2012-03-13		ENSG00000047410	ENSG00000047410			12017	protein-coding gene	gene with protein product		189940	"translocated promoter region (to activated MET oncogene)"			1611909, 15229283	Standard	NM_003292		Approved		uc001grv.3	P12270	OTTHUMG00000035580	ENST00000367478.4:c.4802C>T	1.37:g.186304579G>A	ENSP00000356448:p.Ala1601Val						p.A1601V	NM_003292.2	NP_003283.2	P12270	TPR_HUMAN		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)	34	5098	-		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)	1601					Q15655|Q5SWY0|Q99968	Missense_Mutation	SNP	ENST00000367478.4	37	c.4802C>T	CCDS41446.1	.	.	.	.	.	.	.	.	.	.	G	30	5.052035	0.93793	.	.	ENSG00000047410	ENST00000367478	T	0.27402	1.67	5.14	5.14	0.70334	.	0.000000	0.85682	D	0.000000	T	0.57844	0.2081	M	0.78916	2.43	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.55711	-0.8098	10	0.33940	T	0.23	.	18.9661	0.92697	0.0:0.0:1.0:0.0	.	1601	P12270	TPR_HUMAN	V	1601	ENSP00000356448:A1601V	ENSP00000356448:A1601V	A	-	2	0	TPR	184571202	1.000000	0.71417	1.000000	0.80357	0.893000	0.52053	9.065000	0.93941	2.545000	0.85829	0.650000	0.86243	GCG		0.423	TPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086353.2	NM_003292		7	109	0	0	0	1	0	7	109					A	186304579	G	A	186304579	3	1	409	1	0	0	0	0	1	0	0	0	16413	1087	38	1	2361	1	TPR	1	186304579	Missense_Mutation	SNP	G	TCGA-VP-A872-01A-11D-A34U-08	132309086	186304579	62946042	2	19852											
OR2T8	343172	broad.mit.edu	37	chr1	248084558	248084558	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caccactgtgcccaaaatggCggctgactacttgaccggaa	11	7	10	13	2	0	2	0	2	0	0	0	3	0	3	3	3	2	1	3	3	4	2			TCGA-VP-A872-01A-11D-A34U-08	TCGA-VP-A872-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a653276f-248d-4ffc-9198-d713cdcee5bd	b941d9f4-c0bf-4f8c-8360-2d69964f2e8a	g.chr1:248084558C>T	ENST00000319968.4	+	1	239	c.239C>T	c.(238-240)gCg>gTg	p.A80V		NM_001005522.1	NP_001005522.1	A6NH00	OR2T8_HUMAN	olfactory receptor, family 2, subfamily T, member 8	80						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A80G(1)|p.A80V(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(20)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	34	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0211)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)			CCCAAAATGGCGGCTGACTAC	0.577																																						ENST00000319968.4																			2	Substitution - Missense(2)	p.A80G(1)|p.A80V(1)	lung(2)	central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(20)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	34						c.(238-240)gCg>gTg		olfactory receptor, family 2, subfamily T, member 8							40	39	40					1																	248084558		2190	4289	6479	SO:0001583	missense	343172				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248084558C>T		CCDS31100.1	1q44	2012-08-09		2004-03-10	ENSG00000177462	ENSG00000177462		"GPCR / Class A : Olfactory receptors"	15020	protein-coding gene	gene with protein product				OR2T8P			Standard	XM_005273117		Approved		uc010pzc.2	A6NH00	OTTHUMG00000040205	ENST00000319968.4:c.239C>T	1.37:g.248084558C>T	ENSP00000326225:p.Ala80Val						p.A80V	NM_001005522.1	NP_001005522.1	A6NH00	OR2T8_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0319)		1	239	+	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0211)	80						Missense_Mutation	SNP	ENST00000319968.4	37	c.239C>T	CCDS31100.1	.	.	.	.	.	.	.	.	.	.	c	5.040	0.193017	0.09599	.	.	ENSG00000177462	ENST00000319968	T	0.00441	7.41	3.81	1.87	0.25490	GPCR, rhodopsin-like superfamily (1);	0.224332	0.22373	U	0.060913	T	0.00241	0.0007	L	0.43923	1.385	0.09310	N	1	P	0.43885	0.82	B	0.34652	0.187	T	0.39781	-0.9597	10	0.10902	T	0.67	.	7.6056	0.28100	0.0:0.703:0.0:0.297	.	80	A6NH00	OR2T8_HUMAN	V	80	ENSP00000326225:A80V	ENSP00000326225:A80V	A	+	2	0	OR2T8	246151181	0.420000	0.25457	0.078000	0.20375	0.102000	0.19082	4.689000	0.61723	0.810000	0.34279	0.603000	0.83216	GCG		0.577	OR2T8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096862.1	NM_001005522		5	87	0	0	0	1	0	5	87					T	248084558	C	T	248084558	3	4	409	1	0	0	0	0	1	0	0	0	11030	768	27	1	241	1	OR2T8	1	248084558	Missense_Mutation	SNP	C	TCGA-VP-A872-01A-11D-A34U-08	61779979	248084558	1166063	3	19853											
EMX1	2016	broad.mit.edu	37	chr2	73161021	73161021	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agggctcccatcacatcaacCggtggcgcattgccacgaag	10	6	11	14	3	2	0	2	0	0	0	3	1	3	0	3	3	2	2	3	3	2	1			TCGA-VP-A872-01A-11D-A34U-08	TCGA-VP-A872-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a653276f-248d-4ffc-9198-d713cdcee5bd	b941d9f4-c0bf-4f8c-8360-2d69964f2e8a	g.chr2:73161021C>T	ENST00000258106.6	+	3	1189	c.811C>T	c.(811-813)Cgg>Tgg	p.R271W	EMX1_ENST00000394111.5_3'UTR	NM_004097.2	NP_004088.2	Q04741	EMX1_HUMAN	empty spiracles homeobox 1	238					brain morphogenesis (GO:0048854)|cerebral cortex neuron differentiation (GO:0021895)|cerebral cortex regionalization (GO:0021796)|in utero embryonic development (GO:0001701)|neuron projection extension (GO:1990138)|post-embryonic development (GO:0009791)|regulation of transcription, DNA-templated (GO:0006355)|response to drug (GO:0042493)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			cervix(1)|large_intestine(2)|lung(3)	6						TCACATCAACCGGTGGCGCAT	0.582																																						ENST00000258106.6																			0				cervix(1)|large_intestine(2)|lung(3)	6						c.(811-813)Cgg>Tgg		empty spiracles homeobox 1							71	82	79					2																	73161021		2127	4244	6371	SO:0001583	missense	2016					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:73161021C>T	X68879	CCDS1921.2	2p13.2	2011-06-20	2007-02-15		ENSG00000135638	ENSG00000135638		"Homeoboxes / ANTP class : NKL subclass"	3340	protein-coding gene	gene with protein product		600034	"empty spiracles homolog 1 (Drosophila)"			7959790	Standard	XM_005264203		Approved		uc002sin.1	Q04741	OTTHUMG00000129778	ENST00000258106.6:c.811C>T	2.37:g.73161021C>T	ENSP00000258106:p.Arg271Trp					EMX1_ENST00000394111.5_3'UTR	p.R271W	NM_004097.2	NP_004088.2	Q04741	EMX1_HUMAN			3	1189	+			238					Q0D2P0|Q53T30|Q86XB0	Missense_Mutation	SNP	ENST00000258106.6	37	c.811C>T	CCDS1921.2	.	.	.	.	.	.	.	.	.	.	C	20.2	3.952472	0.73787	.	.	ENSG00000135638	ENST00000258106	D	0.92595	-3.07	4.72	4.72	0.59763	.	0.000000	0.64402	D	0.000001	D	0.95626	0.8578	M	0.78049	2.395	0.80722	D	1	D	0.89917	1.0	D	0.67548	0.952	D	0.96007	0.8998	10	0.87932	D	0	-22.4872	16.7711	0.85537	0.0:1.0:0.0:0.0	.	238	Q04741	EMX1_HUMAN	W	271	ENSP00000258106:R271W	ENSP00000258106:R271W	R	+	1	2	EMX1	73014529	0.998000	0.40836	1.000000	0.80357	0.997000	0.91878	0.652000	0.24888	2.635000	0.89317	0.484000	0.47621	CGG		0.582	EMX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251994.3			11	25	0	0	0	1	0	11	25					T	73161021	C	T	73161021	3	4	409	1	0	0	0	0	1	0	0	0	5107	643	23	2	821	2	EMX1	2	73161021	Missense_Mutation	SNP	C	TCGA-VP-A872-01A-11D-A34U-08		73161021	170038352	4	19854											
POLR1B	84172	broad.mit.edu	37	chr2	113300244	113300244	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgagggtctcggcctcgcggTgcaggtgagcgcggcgtccg	3	6	19	13	8	1	1	0	1	1	0	4	2	2	1	2	5	2	1	2	5	0	0			TCGA-VP-A872-01A-11D-A34U-08	TCGA-VP-A872-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a653276f-248d-4ffc-9198-d713cdcee5bd	b941d9f4-c0bf-4f8c-8360-2d69964f2e8a	g.chr2:113300244T>A	ENST00000263331.5	+	1	753	c.173T>A	c.(172-174)gTg>gAg	p.V58E	POLR1B_ENST00000417433.2_Missense_Mutation_p.V58E|POLR1B_ENST00000537335.1_5'UTR|POLR1B_ENST00000541869.1_Missense_Mutation_p.V96E|POLR1B_ENST00000409894.3_Missense_Mutation_p.V58E	NM_019014.4	NP_061887.2	Q9H9Y6	RPA2_HUMAN	polymerase (RNA) I polypeptide B, 128kDa	58					gene expression (GO:0010467)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|metal ion binding (GO:0046872)|ribonucleoside binding (GO:0032549)			breast(3)|endometrium(9)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	42						GGCCTCGCGGTGCAGGTGAGC	0.677																																					Ovarian(16;256 576 9537 23969 41147)	ENST00000263331.5																			0				breast(3)|endometrium(9)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	42						c.(172-174)gTg>gAg		polymerase (RNA) I polypeptide B, 128kDa							19	19	19					2																	113300244		2203	4298	6501	SO:0001583	missense	84172				termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|protein binding|ribonucleoside binding	g.chr2:113300244T>A	AK001678	CCDS2097.1, CCDS46395.1, CCDS62988.1, CCDS62989.1, CCDS62990.1	2q13	2013-01-21			ENSG00000125630	ENSG00000125630		"RNA polymerase subunits"	20454	protein-coding gene	gene with protein product		602000					Standard	NM_001137604		Approved	Rpo1-2, FLJ21921, FLJ10816, RPA2	uc002thw.2	Q9H9Y6	OTTHUMG00000131314	ENST00000263331.5:c.173T>A	2.37:g.113300244T>A	ENSP00000263331:p.Val58Glu					POLR1B_ENST00000541869.1_Missense_Mutation_p.V96E|POLR1B_ENST00000537335.1_5'UTR|POLR1B_ENST00000409894.3_Missense_Mutation_p.V58E|POLR1B_ENST00000417433.2_Missense_Mutation_p.V58E	p.V58E	NM_019014.4	NP_061887.2	Q9H9Y6	RPA2_HUMAN			1	753	+			58					B7Z6Y7|B7Z823|F5GZX4|F8W898|Q2TAM4|Q585T5|Q6ZRR2|Q9H9D3	Missense_Mutation	SNP	ENST00000263331.5	37	c.173T>A	CCDS2097.1	.	.	.	.	.	.	.	.	.	.	T	36	5.772581	0.96922	.	.	ENSG00000125630	ENST00000263331;ENST00000438748;ENST00000430769;ENST00000541869;ENST00000409894;ENST00000417433	T;T;T;T;T;T	0.78481	-0.34;-0.34;-0.34;-0.34;-0.34;-1.18	6.08	6.08	0.98989	RNA polymerase, beta subunit, protrusion (1);	0.113738	0.64402	D	0.000015	D	0.88760	0.6524	M	0.84219	2.685	0.80722	D	1	D;D;D;D	0.89917	1.0;0.998;0.997;1.0	D;D;D;D	0.80764	0.989;0.994;0.951;0.98	D	0.89944	0.4075	10	0.66056	D	0.02	-29.6556	15.6264	0.76863	0.0:0.0:0.0:1.0	.	96;58;58;58	F5GZX4;F8W898;Q9H9Y6-2;Q9H9Y6	.;.;.;RPA2_HUMAN	E	58;58;58;96;58;58	ENSP00000263331:V58E;ENSP00000388577:V58E;ENSP00000415754:V58E;ENSP00000444136:V96E;ENSP00000387143:V58E;ENSP00000405358:V58E	ENSP00000263331:V58E	V	+	2	0	POLR1B	113016715	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	5.373000	0.66162	2.333000	0.79357	0.533000	0.62120	GTG		0.677	POLR1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254083.1	NM_019014		4	7	0	0	0	1	0	4	7					A	113300244	T	A	113300244	3	1	409	1	0	0	0	0	1	0	0	0	12210	1696	59	5	175	5	POLR1B	2	113300244	Missense_Mutation	SNP	T	TCGA-VP-A872-01A-11D-A34U-08	40139223	113300244	129899129	5	19855											
IRS1	3667	broad.mit.edu	37	chr2	227659846	227659846	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggttgatgagggggtgggggTgggggaggctgcggttcagg	4	8	26	3	1	1	2	1	2	0	0	1	3	1	3	0	10	1	3	0	10	0	2			TCGA-VP-A872-01A-11D-A34U-08	TCGA-VP-A872-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a653276f-248d-4ffc-9198-d713cdcee5bd	b941d9f4-c0bf-4f8c-8360-2d69964f2e8a	g.chr2:227659846T>G	ENST00000305123.5	-	1	4629	c.3609A>C	c.(3607-3609)ccA>ccC	p.P1203P	IRS1_ENST00000498335.1_5'UTR	NM_005544.2	NP_005535.1	P35568	IRS1_HUMAN	insulin receptor substrate 1	1203	Pro-rich.				cellular response to insulin stimulus (GO:0032869)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose homeostasis (GO:0042593)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lipid catabolic process (GO:0016042)|mammary gland development (GO:0030879)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of insulin secretion (GO:0046676)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fatty acid beta-oxidation (GO:0032000)|positive regulation of glucose import (GO:0046326)|positive regulation of glucose import in response to insulin stimulus (GO:2001275)|positive regulation of glucose metabolic process (GO:0010907)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of insulin receptor signaling pathway (GO:0046628)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|protein kinase B signaling (GO:0043491)|protein localization to nucleus (GO:0034504)|regulation of gene expression (GO:0010468)|response to insulin (GO:0032868)|response to peptide hormone (GO:0043434)|signal transduction (GO:0007165)	caveola (GO:0005901)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|insulin receptor complex (GO:0005899)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	insulin receptor binding (GO:0005158)|insulin-like growth factor receptor binding (GO:0005159)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein kinase C binding (GO:0005080)|SH2 domain binding (GO:0042169)|signal transducer activity (GO:0004871)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(10)|lung(33)|ovary(6)|pancreas(1)|prostate(1)|urinary_tract(2)	69		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)		GGGGTGGGGGTGGGGGAGGCT	0.582																																						ENST00000305123.4																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(10)|lung(33)|ovary(6)|pancreas(1)|prostate(1)|urinary_tract(2)	69						c.(3607-3609)ccA>ccC		insulin receptor substrate 1							30	40	37					2																	227659846		2202	4299	6501	SO:0001819	synonymous_variant	3667				fibroblast growth factor receptor signaling pathway|glucose homeostasis|insulin receptor signaling pathway|negative regulation of insulin receptor signaling pathway|negative regulation of insulin secretion|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity	caveola|cytosol|insulin receptor complex|microsome|nucleus	insulin receptor binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase binding|protein kinase C binding|SH2 domain binding|transmembrane receptor protein tyrosine kinase adaptor activity	g.chr2:227659846T>G		CCDS2463.1	2q36	2013-01-10			ENSG00000169047	ENSG00000169047		"Pleckstrin homology (PH) domain containing"	6125	protein-coding gene	gene with protein product		147545				1648180	Standard	NM_005544		Approved	HIRS-1	uc002voh.4	P35568	OTTHUMG00000133179	ENST00000305123.5:c.3609A>C	2.37:g.227659846T>G						IRS1_ENST00000498335.1_5'UTR	p.P1203P	NM_005544.2	NP_005535.1	P35568	IRS1_HUMAN		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)	1	4629	-		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)	1203			Pro-rich.			Silent	SNP	ENST00000305123.5	37	c.3609A>C	CCDS2463.1																																																																																				0.582	IRS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256886.3	NM_005544		5	20	0	0	0	1	0	5	20					G	227659846	T	G	227659846	2	3	409	1	0	0	0	0	0	0	0	1	7840	1683	59	5		5	IRS1	2	227659846	Silent	SNP	T	TCGA-VP-A872-01A-11D-A34U-08	114359602	227659846	15539527	6	19856											
FARP2	9855	broad.mit.edu	37	chr2	242373718	242373718	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	agccgtcttcttcagccgggGctcctccttcagatacaggt	6	11	10	14	2	4	1	2	0	2	1	6	1	6	1	4	3	3	1	4	3	1	4			TCGA-VP-A872-01A-11D-A34U-08	TCGA-VP-A872-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a653276f-248d-4ffc-9198-d713cdcee5bd	b941d9f4-c0bf-4f8c-8360-2d69964f2e8a	g.chr2:242373718G>A	ENST00000264042.3	+	10	1183	c.1013G>A	c.(1012-1014)gGc>gAc	p.G338D	FARP2_ENST00000545004.1_Missense_Mutation_p.G338D|FARP2_ENST00000373287.4_Missense_Mutation_p.G338D	NM_014808.2	NP_055623.1	O94887	FARP2_HUMAN	FERM, RhoGEF and pleckstrin domain protein 2	338					actin cytoskeleton reorganization (GO:0031532)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|neuron remodeling (GO:0016322)|osteoclast differentiation (GO:0030316)|podosome assembly (GO:0071800)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|Rac protein signal transduction (GO:0016601)|regulation of integrin activation (GO:0033623)|regulation of Rac GTPase activity (GO:0032314)|semaphorin-plexin signaling pathway (GO:0071526)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extrinsic component of membrane (GO:0019898)	Rac guanyl-nucleotide exchange factor activity (GO:0030676)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	43		all_cancers(19;4.88e-34)|all_epithelial(40;4.81e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Lung NSC(271;0.0886)|Ovarian(221;0.0905)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;1.81e-33)|all cancers(36;1.61e-30)|OV - Ovarian serous cystadenocarcinoma(60;6.83e-15)|Kidney(56;1.19e-08)|KIRC - Kidney renal clear cell carcinoma(57;8.98e-08)|BRCA - Breast invasive adenocarcinoma(100;1.49e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00125)|Colorectal(34;0.0199)|COAD - Colon adenocarcinoma(134;0.121)		TTCAGCCGGGGCTCCTCCTTC	0.463																																						ENST00000264042.3																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	43						c.(1012-1014)gGc>gAc		FERM, RhoGEF and pleckstrin domain protein 2							73	76	75					2																	242373718		2203	4300	6503	SO:0001583	missense	9855				axon guidance|neuron remodeling|Rac protein signal transduction|regulation of Rho protein signal transduction	cytoskeleton|cytosol|extrinsic to membrane	cytoskeletal protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr2:242373718G>A	AB018336	CCDS33424.1, CCDS63197.1	2q37.3	2013-01-10			ENSG00000006607	ENSG00000006607		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	16460	protein-coding gene	gene with protein product						9872452, 12351724	Standard	NM_001282984		Approved	KIAA0793, FIR, PLEKHC3, FRG	uc002wbi.2	O94887	OTTHUMG00000151574	ENST00000264042.3:c.1013G>A	2.37:g.242373718G>A	ENSP00000264042:p.Gly338Asp					FARP2_ENST00000545004.1_Missense_Mutation_p.G338D|FARP2_ENST00000373287.4_Missense_Mutation_p.G338D	p.G338D	NM_014808.2	NP_055623.1	O94887	FARP2_HUMAN		Epithelial(32;1.81e-33)|all cancers(36;1.61e-30)|OV - Ovarian serous cystadenocarcinoma(60;6.83e-15)|Kidney(56;1.19e-08)|KIRC - Kidney renal clear cell carcinoma(57;8.98e-08)|BRCA - Breast invasive adenocarcinoma(100;1.49e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00125)|Colorectal(34;0.0199)|COAD - Colon adenocarcinoma(134;0.121)	10	1183	+		all_cancers(19;4.88e-34)|all_epithelial(40;4.81e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Lung NSC(271;0.0886)|Ovarian(221;0.0905)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.238)	338					B7Z6J8|F5GZ84|Q53QM5|Q8WU27|Q9UFE7	Missense_Mutation	SNP	ENST00000264042.3	37	c.1013G>A	CCDS33424.1	.	.	.	.	.	.	.	.	.	.	G	28.7	4.942963	0.92526	.	.	ENSG00000006607	ENST00000264042;ENST00000545004;ENST00000373287;ENST00000413432	D;D;D;D	0.97752	-4.52;-4.52;-4.52;-4.52	5.2	5.2	0.72013	FERM adjacent (FA) (1);	0.059909	0.64402	D	0.000003	D	0.99058	0.9677	M	0.92459	3.31	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.998;1.0	D	0.99556	1.0967	10	0.87932	D	0	.	18.7354	0.91751	0.0:0.0:1.0:0.0	.	338;338;338	O94887-2;F5GZ84;O94887	.;.;FARP2_HUMAN	D	338;338;338;25	ENSP00000264042:G338D;ENSP00000443876:G338D;ENSP00000362384:G338D;ENSP00000412772:G25D	ENSP00000264042:G338D	G	+	2	0	FARP2	242022391	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.498000	0.97972	2.416000	0.81992	0.557000	0.71058	GGC		0.463	FARP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323153.1			4	41	0	0	0	1	0	4	41					A	242373718	G	A	242373718	3	1	409	1	0	0	0	0	1	0	0	0	5677	1203	42	3	1047	3	FARP2	2	242373718	Missense_Mutation	SNP	G	TCGA-VP-A872-01A-11D-A34U-08	14713872	242373718	825655	7	19857											
POLQ	10721	broad.mit.edu	37	chr3	121207488	121207489	+	Frame_Shift_Ins	INS	-	-	A																															cagaaacttcattcttttttINSaaaaaaagaccattttcctc																								rs377402875		TCGA-VP-A872-01A-11D-A34U-08	TCGA-VP-A872-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a653276f-248d-4ffc-9198-d713cdcee5bd	b941d9f4-c0bf-4f8c-8360-2d69964f2e8a	g.chr3:121207488_121207489insA	ENST00000264233.5	-	16	4417_4418	c.4289_4290insT	c.(4288-4290)ttafs	p.L1430fs		NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN	polymerase (DNA directed), theta	1430					ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)	nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|damaged DNA binding (GO:0003684)|DNA-directed DNA polymerase activity (GO:0003887)|single-stranded DNA-dependent ATPase activity (GO:0043142)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		CATTCTTTTTTAAAAAAAGACC	0.342								DNA polymerases (catalytic subunits)																													Pancreas(152;907 1925 26081 31236 36904)	ENST00000264233.5																			0				NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120						c.(4288-4290)taafs	DNA polymerases (catalytic subunits)	polymerase (DNA directed), theta																																				SO:0001589	frameshift_variant	10721				DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity	g.chr3:121207488_121207489insA	AF052573	CCDS33833.1	3q13.3	2012-05-18			ENSG00000051341	ENSG00000051341	2.7.7.7	"DNA polymerases"	9186	protein-coding gene	gene with protein product		604419				10395804	Standard	NM_199420		Approved	POLH	uc003eee.4	O75417	OTTHUMG00000159396	ENST00000264233.5:c.4290dupT	3.37:g.121207495_121207495dupA	ENSP00000264233:p.Leu1430fs						p.*1430fs	NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN		GBM - Glioblastoma multiforme(114;0.0915)	16	4417_4418	-			1430					O95160|Q6VMB5	Frame_Shift_Ins	INS	ENST00000264233.5	37	c.4289_4290insT	CCDS33833.1																																																																																				0.342	POLQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355097.1	NM_199420		12	58						12	58	---	---	---	---	A	121207489	-	A	121207488	7	5	409	1	0	1	1	0	0	0	0	0	12208	1751	61	0	3542	0	POLQ	3	121207488	Frame_Shift_Ins	INS	-	TCGA-VP-A872-01A-11D-A34U-08		121207488	76814942	8	19858											
DCHS2	54798	broad.mit.edu	37	chr4	155157233	155157233	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aaggaggcagttgcatcaccTttgtctttggcttggactgt	7	14	12	8	0	2	0	1	0	1	0	2	2	2	2	1	4	1	4	1	4	1	4			TCGA-VP-A872-01A-11D-A34U-08	TCGA-VP-A872-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a653276f-248d-4ffc-9198-d713cdcee5bd	b941d9f4-c0bf-4f8c-8360-2d69964f2e8a	g.chr4:155157233T>A	ENST00000357232.4	-	25	7205	c.7206A>T	c.(7204-7206)aaA>aaT	p.K2402N		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	2402	Cadherin 21. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		TTGCATCACCTTTGTCTTTGG	0.428																																						ENST00000357232.3																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176						c.(7204-7206)aaA>aaT		dachsous cadherin-related 2							86	82	83					4																	155157233		2203	4300	6503	SO:0001583	missense	54798				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:155157233T>A	BC140919	CCDS3785.1, CCDS47150.1	4q32.1	2014-06-04	2013-10-04	2004-09-03		ENSG00000197410		"Cadherins / Cadherin-related"	23111	protein-coding gene	gene with protein product	"cadherin-related family member 7"	612486	"cadherin-like 27", "dachsous 2 (Drosophila)"	CDH27, PCDH23		15003449	Standard	NM_017639		Approved	CDHJ, FLJ20047, PCDHJ, CDHR7	uc003inw.2	Q6V1P9		ENST00000357232.4:c.7206A>T	4.37:g.155157233T>A	ENSP00000349768:p.Lys2402Asn						p.K2402N	NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN		LUSC - Lung squamous cell carcinoma(193;0.107)	25	7205	-	all_hematologic(180;0.208)	Renal(120;0.0854)	2402			Cadherin 21.		B2RU14|E9PC11|Q4W5P9|Q6ZS61|Q9NXU8	Missense_Mutation	SNP	ENST00000357232.4	37	c.7206A>T	CCDS3785.1	.	.	.	.	.	.	.	.	.	.	T	13.89	2.373099	0.42105	.	.	ENSG00000197410	ENST00000357232	T	0.51071	0.72	6.03	0.829	0.18847	Cadherin (4);Cadherin-like (1);	0.142973	0.48286	D	0.000197	T	0.47893	0.1470	L	0.35341	1.055	0.80722	D	1	D	0.69078	0.997	D	0.65443	0.935	T	0.30031	-0.9992	10	0.16420	T	0.52	.	9.6336	0.39793	0.0:0.2687:0.0:0.7313	.	2402	Q6V1P9	PCD23_HUMAN	N	2402	ENSP00000349768:K2402N	ENSP00000349768:K2402N	K	-	3	2	DCHS2	155376683	1.000000	0.71417	0.557000	0.28306	0.125000	0.20455	2.305000	0.43664	-0.063000	0.13065	0.533000	0.62120	AAA		0.428	DCHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365281.2	NM_001142552		6	95	0	0	0	1	0	6	95					A	155157233	T	A	155157233	3	1	409	1	0	0	0	0	1	0	0	0	4288	1606	56	5	1548	5	DCHS2	4	155157233	Missense_Mutation	SNP	T	TCGA-VP-A872-01A-11D-A34U-08		155157233	35997043	9	19859											
TRIO	7204	broad.mit.edu	37	chr5	14359623	14359623	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcctgcagctgcgcatcttcGagagggacgccatcgacgtg	7	8	13	13	5	1	1	0	0	1	1	4	4	2	2	2	1	3	3	2	1	0	1			TCGA-VP-A872-01A-11D-A34U-08	TCGA-VP-A872-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a653276f-248d-4ffc-9198-d713cdcee5bd	b941d9f4-c0bf-4f8c-8360-2d69964f2e8a	g.chr5:14359623G>A	ENST00000344204.4	+	13	2398	c.2374G>A	c.(2374-2376)Gag>Aag	p.E792K	TRIO_ENST00000537187.1_Missense_Mutation_p.E792K|TRIO_ENST00000509967.2_Missense_Mutation_p.E743K	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	792					apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	cytosol (GO:0005829)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					GCGCATCTTCGAGAGGGACGC	0.662																																						ENST00000344204.4																			0				NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118						c.(2374-2376)Gag>Aag		trio Rho guanine nucleotide exchange factor							60	51	54					5																	14359623		2203	4300	6503	SO:0001583	missense	7204				apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity	g.chr5:14359623G>A	AF091395	CCDS3883.1	5p14-p15.1	2013-01-11	2012-07-12		ENSG00000038382	ENSG00000038382		"Rho guanine nucleotide exchange factors", "Immunoglobulin superfamily / I-set domain containing"	12303	protein-coding gene	gene with protein product		601893	"triple functional domain (PTPRF interacting)"			8643598	Standard	NM_007118		Approved	ARHGEF23	uc003jff.3	O75962	OTTHUMG00000131057	ENST00000344204.4:c.2374G>A	5.37:g.14359623G>A	ENSP00000339299:p.Glu792Lys					TRIO_ENST00000537187.1_Missense_Mutation_p.E792K|TRIO_ENST00000509967.2_Missense_Mutation_p.E743K	p.E792K	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN			13	2398	+	Lung NSC(4;0.000742)		792					D3DTD1|Q13458|Q59EQ7|Q6PJC9|Q6ZN05|Q8IWK8	Missense_Mutation	SNP	ENST00000344204.4	37	c.2374G>A	CCDS3883.1	.	.	.	.	.	.	.	.	.	.	G	25.2	4.617076	0.87359	.	.	ENSG00000038382	ENST00000344204;ENST00000537187;ENST00000509967;ENST00000513206	T;T;T	0.52754	0.65;0.65;0.65	5.01	5.01	0.66863	.	0.000000	0.85682	D	0.000000	T	0.67401	0.2889	M	0.64170	1.965	0.80722	D	1	D;D;D	0.89917	1.0;0.998;0.999	D;P;D	0.80764	0.994;0.843;0.972	T	0.69771	-0.5055	10	0.62326	D	0.03	.	18.6935	0.91592	0.0:0.0:1.0:0.0	.	743;792;792	F5H228;O75962-5;O75962	.;.;TRIO_HUMAN	K	792;792;743;479	ENSP00000339299:E792K;ENSP00000446348:E792K;ENSP00000445592:E743K	ENSP00000339299:E792K	E	+	1	0	TRIO	14412623	1.000000	0.71417	0.874000	0.34290	0.987000	0.75469	9.798000	0.99111	2.489000	0.83994	0.650000	0.86243	GAG		0.662	TRIO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253711.2	NM_007118		10	53	0	0	0	1	0	10	53					A	14359623	G	A	14359623	3	1	409	1	0	0	0	0	1	0	0	0	16549	1059	37	2	2424	2	TRIO	5	14359623	Missense_Mutation	SNP	G	TCGA-VP-A872-01A-11D-A34U-08		14359623	166555637	10	19860											
PCDHGA1	56114	broad.mit.edu	37	chr5	140712483	140712483	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgcactttgtgggcgtggaCggggttcgggctttcctgca	3	12	16	10	4	0	0	0	0	0	0	3	1	1	1	1	5	1	4	1	5	0	3	rs553517087		TCGA-VP-A872-01A-11D-A34U-08	TCGA-VP-A872-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a653276f-248d-4ffc-9198-d713cdcee5bd	b941d9f4-c0bf-4f8c-8360-2d69964f2e8a	g.chr5:140712483C>T	ENST00000517417.1	+	1	2232	c.2232C>T	c.(2230-2232)gaC>gaT	p.D744D	PCDHGA1_ENST00000378105.3_Silent_p.D744D	NM_018912.2	NP_061735.1	Q9Y5H4	PCDG1_HUMAN	protocadherin gamma subfamily A, 1	744					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.D744D(3)		breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|lung(32)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGGCGTGGACGGGGTTCGGG	0.637																																						ENST00000517417.1																			3	Substitution - coding silent(3)	p.D744D(3)	large_intestine(3)	breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|lung(32)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	78						c.(2230-2232)gaC>gaT									71	75	74					5																	140712483		2203	4300	6503	SO:0001819	synonymous_variant	0							g.chr5:140712483C>T	AF152318	CCDS54922.1	5q31	2010-01-26				ENSG00000204956		"Cadherins / Protocadherins : Clustered"	8696	other	protocadherin		606288				10380929	Standard	NM_018912		Approved	PCDH-GAMMA-A1		Q9Y5H4		ENST00000517417.1:c.2232C>T	5.37:g.140712483C>T						PCDHGA1_ENST00000378105.3_Silent_p.D744D	p.D744D	NM_018912.2	NP_061735.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2232	+								Q2M273|Q9Y5D6	Silent	SNP	ENST00000517417.1	37	c.2232C>T	CCDS54922.1																																																																																				0.637	PCDHGA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000374737.1	NM_018912		24	86	0	0	0	1	0	24	86					T	140712483	C	T	140712483	2	4	409	1	0	0	0	0	0	0	0	1	11550	535	19	1		1	PCDHGA1	5	140712483	Silent	SNP	C	TCGA-VP-A872-01A-11D-A34U-08	126352860	140712483	40202777	11	19861											
TCERG1	10915	broad.mit.edu	37	chr5	145849150	145849151	+	Frame_Shift_Ins	INS	-	-	CC																															ctatcgtacccatgatacatINSccccaggttgctattgcagc																										TCGA-VP-A872-01A-11D-A34U-08	TCGA-VP-A872-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a653276f-248d-4ffc-9198-d713cdcee5bd	b941d9f4-c0bf-4f8c-8360-2d69964f2e8a	g.chr5:145849150_145849151insCC	ENST00000296702.5	+	7	1280_1281	c.1242_1243insCC	c.(1243-1245)cccfs	p.P415fs	TCERG1_ENST00000394421.2_Frame_Shift_Ins_p.P394fs	NM_006706.3	NP_006697.2	O14776	TCRG1_HUMAN	transcription elongation regulator 1	415					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA polymerase II repressing transcription factor binding (GO:0001103)|RNA polymerase II transcription corepressor activity (GO:0001106)|transcription coactivator activity (GO:0003713)			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(18)|lung(9)|ovary(2)|prostate(3)|skin(1)	46		Lung NSC(249;0.00188)|all_lung(500;0.00307)|all_neural(839;0.0424)|Breast(839;0.0743)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CCATGATACATCCCCAGGTTGC	0.386																																						ENST00000296702.5																			0				breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(18)|lung(9)|ovary(2)|prostate(3)|skin(1)	46						c.(1240-1245)cacccafs		transcription elongation regulator 1																																				SO:0001589	frameshift_variant	10915				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	protein binding|transcription coactivator activity	g.chr5:145849150_145849151insCC	AF017789	CCDS4282.1, CCDS43379.1	5q31	2010-01-25	2002-01-24	2002-01-25	ENSG00000113649	ENSG00000113649			15630	protein-coding gene	gene with protein product	"transcription factor CA150", "co-activator of 150 kDa", "TATA box binding protein (TBP)-associated factor, RNA polymerase II, S, 150kD", "TATA box-binding protein-associated factor 2S"	605409	"TATA box binding protein (TBP)-associated factor, RNA polymerase II, S, 150kD"	TAF2S		9315662, 11003711	Standard	XM_005268365		Approved	CA150, Urn1	uc003lob.3	O14776	OTTHUMG00000129683	ENST00000296702.5:c.1245_1246dupCC	5.37:g.145849153_145849154dupCC	ENSP00000296702:p.Pro415fs					TCERG1_ENST00000394421.2_Frame_Shift_Ins_p.HP393fs	p.HP414fs	NM_006706.3	NP_006697.2	O14776	TCRG1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		7	1280_1281	+		Lung NSC(249;0.00188)|all_lung(500;0.00307)|all_neural(839;0.0424)|Breast(839;0.0743)	414					Q2NKN2|Q59EA1	Frame_Shift_Ins	INS	ENST00000296702.5	37	c.1242_1243insCC	CCDS4282.1																																																																																				0.386	TCERG1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251886.1	NM_001040006		54	156						54	156	---	---	---	---	CC	145849151	-	CC	145849150	7	5	409	1	0	1	1	0	0	0	0	0	15682	1432	50	0	1268	0	TCERG1	5	145849150	Frame_Shift_Ins	INS	-	TCGA-VP-A872-01A-11D-A34U-08	5136667	145849150	35066110	12	19862											
TNXB	7148	broad.mit.edu	37	chr6	32063700	32063700	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgggtggcacaggtagggcCggtgtagcctgggtcgcaca	6	6	19	10	3	0	0	0	0	0	0	1	0	0	0	2	6	1	4	2	6	2	2			TCGA-VP-A872-01A-11D-A34U-08	TCGA-VP-A872-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a653276f-248d-4ffc-9198-d713cdcee5bd	b941d9f4-c0bf-4f8c-8360-2d69964f2e8a	g.chr6:32063700C>T	ENST00000479795.1	-	3	2070	c.1930G>A	c.(1930-1932)Ggc>Agc	p.G644S	TNXB_ENST00000375247.2_Missense_Mutation_p.G644S|TNXB_ENST00000375244.3_Missense_Mutation_p.G644S			P22105	TENX_HUMAN	tenascin XB	644	EGF-like 16. {ECO:0000255|PROSITE- ProRule:PRU00076}.				actin cytoskeleton organization (GO:0030036)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|collagen fibril organization (GO:0030199)|collagen metabolic process (GO:0032963)|elastic fiber assembly (GO:0048251)|extracellular fibril organization (GO:0043206)|fatty acid metabolic process (GO:0006631)|regulation of JUN kinase activity (GO:0043506)|single organismal cell-cell adhesion (GO:0016337)|triglyceride metabolic process (GO:0006641)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						CAGGTAGGGCCGGTGTAGCCT	0.687																																						ENST00000375244.3																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						c.(1930-1932)Ggc>Agc		tenascin XB							16	18	17					6																	32063700		2119	4216	6335	SO:0001583	missense	7148				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding	g.chr6:32063700C>T	X71923	CCDS4736.1	6p21.3	2013-02-11			ENSG00000168477	ENSG00000168477		"Fibrinogen C domain containing", "Fibronectin type III domain containing"	11976	protein-coding gene	gene with protein product		600985		TNXB1, TNXB2		8530023	Standard	NM_019105		Approved	TNXBS, XBS, XB	uc021yvf.2	P22105	OTTHUMG00000031088	ENST00000479795.1:c.1930G>A	6.37:g.32063700C>T	ENSP00000418248:p.Gly644Ser					TNXB_ENST00000375247.2_Missense_Mutation_p.G644S|TNXB_ENST00000479795.1_Missense_Mutation_p.G644S	p.G644S			P22105	TENX_HUMAN			3	2131	-			644			EGF-like 16.		P78530|P78531|Q08424|Q08AM0|Q08AM1|Q59GU7|Q5SQD3|Q5ST74|Q7L8Q4|Q8N4R1|Q9NPK9|Q9UC10|Q9UC11|Q9UC12|Q9UC13|Q9UMG7	Missense_Mutation	SNP	ENST00000479795.1	37	c.1930G>A		.	.	.	.	.	.	.	.	.	.	C	14.90	2.673033	0.47781	.	.	ENSG00000168477	ENST00000375244;ENST00000375247;ENST00000479795	T;T;D	0.85013	1.81;1.81;-1.93	4.25	4.25	0.50352	.	0.000000	0.43416	D	0.000580	D	0.92773	0.7702	M	0.91561	3.22	0.40214	D	0.977668	D	0.89917	1.0	D	0.97110	1.0	D	0.93982	0.7259	10	0.59425	D	0.04	.	15.6045	0.76652	0.0:1.0:0.0:0.0	.	644	P22105-3	.	S	644	ENSP00000364393:G644S;ENSP00000364396:G644S;ENSP00000418248:G644S	ENSP00000364393:G644S	G	-	1	0	TNXB	32171678	.	.	0.189000	0.23252	0.058000	0.15608	.	.	2.198000	0.70561	0.563000	0.77884	GGC		0.687	TNXB-007	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000357059.1	NM_019105		8	11	0	0	0	1	0	8	11					T	32063700	C	T	32063700	3	4	409	1	0	0	0	0	1	0	0	0	16343	652	23	2	12951	2	TNXB	6	32063700	Missense_Mutation	SNP	C	TCGA-VP-A872-01A-11D-A34U-08		32063700	139051367	13	19863											
DGKB	1607	broad.mit.edu	37	chr7	14647098	14647098	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagaaagactgtaaacctgaCgaggatttaatagatactgg	16	9	10	6	1	0	4	0	1	0	3	0	6	0	5	1	2	2	1	1	2	6	5			TCGA-VP-A872-01A-11D-A34U-08	TCGA-VP-A872-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a653276f-248d-4ffc-9198-d713cdcee5bd	b941d9f4-c0bf-4f8c-8360-2d69964f2e8a	g.chr7:14647098C>T	ENST00000403951.2	-	17	1816	c.1397G>A	c.(1396-1398)cGt>cAt	p.R466H	DGKB_ENST00000399322.3_Missense_Mutation_p.R466H|DGKB_ENST00000407950.1_Missense_Mutation_p.R458H|DGKB_ENST00000402815.1_Missense_Mutation_p.R465H|DGKB_ENST00000444700.2_Missense_Mutation_p.R447H|DGKB_ENST00000406247.3_Missense_Mutation_p.R466H|DGKB_ENST00000258767.5_Missense_Mutation_p.R466H|DGKB_ENST00000403963.1_5'UTR			Q9Y6T7	DGKB_HUMAN	diacylglycerol kinase, beta 90kDa	466	DAGKc. {ECO:0000255|PROSITE- ProRule:PRU00783}.				blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|diacylglycerol kinase activity (GO:0004143)|NAD+ kinase activity (GO:0003951)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(34)|ovary(4)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72						GTAAACCTGACGAGGATTTAA	0.279																																						ENST00000403951.2																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(34)|ovary(4)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72						c.(1396-1398)cGt>cAt		diacylglycerol kinase, beta 90kDa	Phosphatidylserine(DB00144)						52	49	50					7																	14647098		1787	4052	5839	SO:0001583	missense	1607				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	cytoplasm|plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity|protein binding	g.chr7:14647098C>T	AB018261	CCDS47547.1, CCDS47548.1	7p21.2	2013-01-10	2002-08-29		ENSG00000136267	ENSG00000136267	2.7.1.107	"EF-hand domain containing"	2850	protein-coding gene	gene with protein product		604070	"diacylglycerol kinase, beta (90kD)"	DAGK2		7689223	Standard	NM_004080		Approved	KIAA0718, DGK, DGK-BETA	uc003ssz.3	Q9Y6T7	OTTHUMG00000152477	ENST00000403951.2:c.1397G>A	7.37:g.14647098C>T	ENSP00000385780:p.Arg466His					DGKB_ENST00000444700.2_Missense_Mutation_p.R447H|DGKB_ENST00000403963.1_5'UTR|DGKB_ENST00000407950.1_Missense_Mutation_p.R458H|DGKB_ENST00000406247.3_Missense_Mutation_p.R466H|DGKB_ENST00000399322.3_Missense_Mutation_p.R466H|DGKB_ENST00000402815.1_Missense_Mutation_p.R465H|DGKB_ENST00000258767.5_Missense_Mutation_p.R466H	p.R466H			Q9Y6T7	DGKB_HUMAN			17	1816	-			466			DAGKc.		A4D116|A4D117|A8MXU2|O75241|Q2M377|Q75MF9|Q75MU7|Q86UI5|Q86UM9|Q9UQ29	Missense_Mutation	SNP	ENST00000403951.2	37	c.1397G>A	CCDS47547.1	.	.	.	.	.	.	.	.	.	.	C	29.0	4.971024	0.92919	.	.	ENSG00000136267	ENST00000403951;ENST00000399322;ENST00000258767;ENST00000402815;ENST00000407950;ENST00000444700;ENST00000406247	T;T;T;T;T;T;T	0.41400	1.0;1.0;1.0;1.0;1.0;1.0;1.0	5.6	5.6	0.85130	Diacylglycerol kinase, catalytic domain (3);	0.000000	0.85682	D	0.000000	T	0.65554	0.2702	M	0.67397	2.05	0.58432	D	0.999998	D;D;D;D	0.89917	1.0;0.998;1.0;1.0	D;D;D;D	0.97110	0.989;0.909;0.997;1.0	T	0.64449	-0.6405	10	0.54805	T	0.06	.	19.9698	0.97280	0.0:1.0:0.0:0.0	.	465;447;466;466	B7ZL83;C9JTC0;Q9Y6T7-2;Q9Y6T7	.;.;.;DGKB_HUMAN	H	466;466;466;465;458;447;466	ENSP00000385780:R466H;ENSP00000382260:R466H;ENSP00000258767:R466H;ENSP00000384909:R465H;ENSP00000385031:R458H;ENSP00000388451:R447H;ENSP00000386066:R466H	ENSP00000258767:R466H	R	-	2	0	DGKB	14613623	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.626000	0.74253	2.786000	0.95864	0.561000	0.74099	CGT		0.279	DGKB-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000326356.2	NM_004080		5	26	0	0	0	1	0	5	26					T	14647098	C	T	14647098	3	4	409	1	0	0	0	0	1	0	0	0	4466	536	19	1	1072	1	DGKB	7	14647098	Missense_Mutation	SNP	C	TCGA-VP-A872-01A-11D-A34U-08		14647098	144491565	14	19864											
TNC	3371	broad.mit.edu	37	chr9	117849182	117849182	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaggcttgttgcagtcatcGcctgcaaagccatcgtggca	9	9	12	11	2	1	1	1	0	0	1	3	1	1	1	2	2	3	5	2	2	1	2			TCGA-VP-A872-01A-11D-A34U-08	TCGA-VP-A872-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a653276f-248d-4ffc-9198-d713cdcee5bd	b941d9f4-c0bf-4f8c-8360-2d69964f2e8a	g.chr9:117849182G>A	ENST00000350763.4	-	3	1239	c.828C>T	c.(826-828)ggC>ggT	p.G276G	TNC_ENST00000423613.2_Silent_p.G276G|TNC_ENST00000542877.1_Silent_p.G276G|TNC_ENST00000535648.1_Silent_p.G276G|TNC_ENST00000537320.1_Silent_p.G276G|TNC_ENST00000341037.4_Silent_p.G276G|TNC_ENST00000345230.3_Silent_p.G276G|TNC_ENST00000340094.3_Silent_p.G276G|TNC_ENST00000346706.3_Silent_p.G276G	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	276	EGF-like 4. {ECO:0000255|PROSITE- ProRule:PRU00076}.				bud outgrowth involved in lung branching (GO:0060447)|cell adhesion (GO:0007155)|cellular response to prostaglandin D stimulus (GO:0071799)|cellular response to retinoic acid (GO:0071300)|cellular response to vitamin D (GO:0071305)|extracellular matrix organization (GO:0030198)|mesenchymal-epithelial cell signaling involved in prostate gland development (GO:0060739)|negative regulation of cell adhesion (GO:0007162)|neuromuscular junction development (GO:0007528)|odontogenesis of dentin-containing tooth (GO:0042475)|osteoblast differentiation (GO:0001649)|peripheral nervous system axon regeneration (GO:0014012)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|prostate gland epithelium morphogenesis (GO:0060740)|response to ethanol (GO:0045471)|response to fibroblast growth factor (GO:0071774)|response to mechanical stimulus (GO:0009612)|response to wounding (GO:0009611)|wound healing (GO:0042060)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|interstitial matrix (GO:0005614)|membrane (GO:0016020)	syndecan binding (GO:0045545)			NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						TGCAGTCATCGCCTGCAAAGC	0.567																																						ENST00000350763.4																			0				NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						c.(826-828)ggC>ggT		tenascin C																																				SO:0001819	synonymous_variant	3371				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding	g.chr9:117849182G>A		CCDS6811.1	9q33.1	2014-01-28	2008-07-31	2002-06-07	ENSG00000041982	ENSG00000041982		"Fibrinogen C domain containing", "Fibronectin type III domain containing"	5318	protein-coding gene	gene with protein product	"hexabrachion (tenascin)"	187380	"hexabrachion (tenascin C, cytotactin)", "deafness, autosomal dominant 56"	HXB, DFNA56		1704365, 1707164, 23936043	Standard	NM_002160		Approved	TN, MGC167029	uc004bjj.4	P24821	OTTHUMG00000021010	ENST00000350763.4:c.828C>T	9.37:g.117849182G>A						TNC_ENST00000346706.3_Silent_p.G276G|TNC_ENST00000542877.1_Silent_p.G276G|TNC_ENST00000341037.4_Silent_p.G276G|TNC_ENST00000423613.2_Silent_p.G276G|TNC_ENST00000340094.3_Silent_p.G276G|TNC_ENST00000537320.1_Silent_p.G276G|TNC_ENST00000345230.3_Silent_p.G276G|TNC_ENST00000535648.1_Silent_p.G276G	p.G276G	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN			3	1239	-			276			EGF-like 4.		C9IYT7|C9J575|C9J6D9|C9J848|Q14583|Q15567|Q5T7S3	Silent	SNP	ENST00000350763.4	37	c.828C>T	CCDS6811.1																																																																																				0.567	TNC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055418.2	NM_002160		7	60	0	0	0	1	0	7	60					A	117849182	G	A	117849182	2	1	409	1	0	0	0	0	0	0	0	1	16267	1074	38	1		1	TNC	9	117849182	Silent	SNP	G	TCGA-VP-A872-01A-11D-A34U-08		117849182	23364249	15	19865											
ANKRD1	27063	broad.mit.edu	37	chr10	92677496	92677496	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaatatatttaccatatcaCggaattcgatctgggctcca	13	12	7	9	2	2	0	1	0	1	0	4	3	3	1	2	2	1	1	2	2	6	6	rs530739375		TCGA-VP-A872-01A-11D-A34U-08	TCGA-VP-A872-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a653276f-248d-4ffc-9198-d713cdcee5bd	b941d9f4-c0bf-4f8c-8360-2d69964f2e8a	g.chr10:92677496C>A	ENST00000371697.3	-	5	793	c.545G>T	c.(544-546)cGt>cTt	p.R182L		NM_014391.2	NP_055206.2	Q15327	ANKR1_HUMAN	ankyrin repeat domain 1 (cardiac muscle)	182					cardiac muscle tissue morphogenesis (GO:0055008)|cellular lipid metabolic process (GO:0044255)|cellular response to drug (GO:0035690)|cellular response to hypoxia (GO:0071456)|cellular response to interleukin-1 (GO:0071347)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to mechanical stimulus (GO:0071260)|cellular response to organic cyclic compound (GO:0071407)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of DNA biosynthetic process (GO:2000279)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein secretion (GO:0050714)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to muscle stretch (GO:0035994)|sarcomere organization (GO:0045214)|skeletal muscle cell differentiation (GO:0035914)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|I band (GO:0031674)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|histone deacetylase binding (GO:0042826)|p53 binding (GO:0002039)|R-SMAD binding (GO:0070412)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription factor binding (GO:0001085)|titin binding (GO:0031432)|transcription corepressor activity (GO:0003714)			autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|prostate(3)|skin(1)	27		Colorectal(252;0.0475)				TACCATATCACGGAATTCGAT	0.413																																						ENST00000371697.3																			0				autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|prostate(3)|skin(1)	27						c.(544-546)cGt>cTt		ankyrin repeat domain 1 (cardiac muscle)							81	75	77					10																	92677496		2203	4300	6503	SO:0001583	missense	27063				cellular lipid metabolic process|defense response|signal transduction		DNA binding	g.chr10:92677496C>A	X83703	CCDS7412.1	10q23.33	2014-09-17			ENSG00000148677	ENSG00000148677		"Ankyrin repeat domain containing"	15819	protein-coding gene	gene with protein product		609599				7730328	Standard	NM_014391		Approved	C-193, ALRP, CARP, CVARP, MCARP	uc001khe.1	Q15327	OTTHUMG00000018734	ENST00000371697.3:c.545G>T	10.37:g.92677496C>A	ENSP00000360762:p.Arg182Leu						p.R182L	NM_014391.2	NP_055206.2	Q15327	ANKR1_HUMAN			5	793	-		Colorectal(252;0.0475)	182					Q96LE7	Missense_Mutation	SNP	ENST00000371697.3	37	c.545G>T	CCDS7412.1	.	.	.	.	.	.	.	.	.	.	C	18.87	3.714545	0.68730	.	.	ENSG00000148677	ENST00000371697	T	0.66815	-0.23	5.51	4.59	0.56863	Ankyrin repeat-containing domain (4);	0.094727	0.42682	D	0.000673	T	0.67906	0.2943	L	0.52905	1.665	0.38480	D	0.947684	P	0.47545	0.897	P	0.53593	0.73	T	0.71991	-0.4425	10	0.72032	D	0.01	.	5.523	0.16943	0.0:0.7311:0.0:0.2689	.	182	Q15327	ANKR1_HUMAN	L	182	ENSP00000360762:R182L	ENSP00000360762:R182L	R	-	2	0	ANKRD1	92667476	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.058000	0.41374	2.743000	0.94032	0.585000	0.79938	CGT		0.413	ANKRD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049357.1	NM_014391		10	21	1	0	7.48243e-07	1	8.14264e-07	10	21					A	92677496	C	A	92677496	3	1	409	1	0	0	0	0	1	0	0	0	637	536	19	5	434	5	ANKRD1	10	92677496	Missense_Mutation	SNP	C	TCGA-VP-A872-01A-11D-A34U-08		92677496	42857251	16	19866											
OR8I2	120586	broad.mit.edu	37	chr11	55861284	55861284	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgggtgataagcagtttggcGttctgtgattccagcatcaa	9	13	12	7	1	2	2	1	2	1	0	3	2	3	2	1	2	2	4	1	2	2	4			TCGA-VP-A872-01A-11D-A34U-08	TCGA-VP-A872-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a653276f-248d-4ffc-9198-d713cdcee5bd	b941d9f4-c0bf-4f8c-8360-2d69964f2e8a	g.chr11:55861284G>A	ENST00000302124.2	+	1	532	c.501G>A	c.(499-501)gcG>gcA	p.A167A		NM_001003750.1	NP_001003750.1	Q8N0Y5	OR8I2_HUMAN	olfactory receptor, family 8, subfamily I, member 2	167						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(24)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	53	Esophageal squamous(21;0.00693)					GCAGTTTGGCGTTCTGTGATT	0.443																																						ENST00000302124.2																			0				NS(1)|breast(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(24)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	53						c.(499-501)gcG>gcA		olfactory receptor, family 8, subfamily I, member 2							165	154	158					11																	55861284		2201	4296	6497	SO:0001819	synonymous_variant	120586				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55861284G>A	AB065656	CCDS31517.1	11q11	2012-08-09			ENSG00000172154	ENSG00000172154		"GPCR / Class A : Olfactory receptors"	15310	protein-coding gene	gene with protein product							Standard	NM_001003750		Approved		uc010rix.2	Q8N0Y5	OTTHUMG00000166831	ENST00000302124.2:c.501G>A	11.37:g.55861284G>A						OR8I2_ENST00000560768.1_Silent_p.A167A	p.A167A			Q8N0Y5	OR8I2_HUMAN			1	532	+	Esophageal squamous(21;0.00693)		167					B2RNN4|Q6IFC0|Q96RC5	Silent	SNP	ENST00000302124.2	37	c.501G>A	CCDS31517.1																																																																																				0.443	OR8I2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001003750		4	119	0	0	0	1	0	4	119					A	55861284	G	A	55861284	2	1	409	1	0	0	0	0	0	0	0	1	11240	1132	40	1		1	OR8I2	11	55861284	Silent	SNP	G	TCGA-VP-A872-01A-11D-A34U-08		55861284	79145232	17	19867											
MOGAT2	80168	broad.mit.edu	37	chr11	75438518	75438518	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctggacccctctcggaactaCattgcgggcttccaccccca	7	8	8	18	2	1	0	0	0	1	0	3	2	2	2	5	3	3	1	5	3	2	3			TCGA-VP-A872-01A-11D-A34U-08	TCGA-VP-A872-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a653276f-248d-4ffc-9198-d713cdcee5bd	b941d9f4-c0bf-4f8c-8360-2d69964f2e8a	g.chr11:75438518C>A	ENST00000198801.5	+	3	379	c.309C>A	c.(307-309)taC>taA	p.Y103*	MOGAT2_ENST00000526712.1_Nonsense_Mutation_p.Y21*	NM_025098.2	NP_079374.2	Q3SYC2	MOGT2_HUMAN	monoacylglycerol O-acyltransferase 2	103					diacylglycerol biosynthetic process (GO:0006651)|glycerol metabolic process (GO:0006071)|intestinal absorption (GO:0050892)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	2-acylglycerol O-acyltransferase activity (GO:0003846)|acetyltransferase activity (GO:0016407)			NS(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	20	Ovarian(111;0.103)					CTCGGAACTACATTGCGGGCT	0.632																																						ENST00000526712.1																			0				NS(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	20						c.(61-63)taC>taA		monoacylglycerol O-acyltransferase 2							63	62	63					11																	75438518		2200	4293	6493	SO:0001587	stop_gained	80168				glycerol metabolic process	endoplasmic reticulum membrane|integral to membrane	2-acylglycerol O-acyltransferase activity	g.chr11:75438518C>A	AY157608	CCDS8240.1	11q13.5	2008-02-05			ENSG00000166391	ENSG00000166391			23248	protein-coding gene	gene with protein product		610270				14970677	Standard	NM_025098		Approved	MGAT2, DGAT2L5, FLJ22644	uc010rru.2	Q3SYC2	OTTHUMG00000165341	ENST00000198801.5:c.309C>A	11.37:g.75438518C>A	ENSP00000198801:p.Tyr103*					MOGAT2_ENST00000198801.5_Nonsense_Mutation_p.Y103*	p.Y21*			Q3SYC2	MOGT2_HUMAN			2	836	+	Ovarian(111;0.103)		103					A8K7I3|Q3SYC1|Q6ZQZ2|Q86UH6|Q9H630	Nonsense_Mutation	SNP	ENST00000198801.5	37	c.63C>A	CCDS8240.1	.	.	.	.	.	.	.	.	.	.	C	41	8.924361	0.99004	.	.	ENSG00000166391	ENST00000198801;ENST00000526712	.	.	.	5.93	-2.17	0.07059	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-39.5305	12.4411	0.55625	0.0:0.4217:0.0:0.5783	.	.	.	.	X	103;21	.	ENSP00000198801:Y103X	Y	+	3	2	MOGAT2	75116166	0.059000	0.20769	0.051000	0.19133	0.877000	0.50540	0.416000	0.21198	-0.254000	0.09500	-0.126000	0.14955	TAC		0.632	MOGAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383520.1	NM_025098		3	33	1	0	0.115264	1	0.115264	3	33					A	75438518	C	A	75438518	4	1	409	1	0	0	0	0	0	1	0	0	9695	489	17	5	319	5	MOGAT2	11	75438518	Nonsense_Mutation	SNP	C	TCGA-VP-A872-01A-11D-A34U-08	19577234	75438518	59567998	18	19868											
FAT3	120114	broad.mit.edu	37	chr11	92534952	92534952	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgacaatgcaccagtcttcGcgcaggaagtgtaccgaggg	11	7	13	10	3	1	1	0	1	1	0	2	3	1	2	2	2	2	3	2	2	3	2			TCGA-VP-A872-01A-11D-A34U-08	TCGA-VP-A872-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a653276f-248d-4ffc-9198-d713cdcee5bd	b941d9f4-c0bf-4f8c-8360-2d69964f2e8a	g.chr11:92534952G>A	ENST00000298047.6	+	9	8790	c.8773G>A	c.(8773-8775)Gcg>Acg	p.A2925T	FAT3_ENST00000409404.2_Missense_Mutation_p.A2925T|FAT3_ENST00000525166.1_Missense_Mutation_p.A2775T			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	2925	Cadherin 27. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.A2925T(2)		NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				ACCAGTCTTCGCGCAGGAAGT	0.562										TCGA Ovarian(4;0.039)																												ENST00000298047.6																			2	Substitution - Missense(2)	p.A2925T(2)	large_intestine(2)	NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85						c.(8773-8775)Gcg>Acg		FAT atypical cadherin 3							101	99	99					11																	92534952		2026	4191	6217	SO:0001583	missense	120114				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr11:92534952G>A	AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"Cadherins / Cadherin-related"	23112	protein-coding gene	gene with protein product	"cadherin-related family member 10"	612483	"FAT tumor suppressor homolog 3 (Drosophila)"			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.8773G>A	11.37:g.92534952G>A	ENSP00000298047:p.Ala2925Thr	TCGA Ovarian(4;0.039)				FAT3_ENST00000409404.2_Missense_Mutation_p.A2925T|FAT3_ENST00000525166.1_Missense_Mutation_p.A2775T	p.A2925T			Q8TDW7	FAT3_HUMAN			9	8790	+		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)	2925			Cadherin 27.		B5MDB0|Q96AU6	Missense_Mutation	SNP	ENST00000298047.6	37	c.8773G>A		.	.	.	.	.	.	.	.	.	.	G	0.900	-0.722570	0.03158	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000525166	T;T;T	0.01215	5.16;5.16;5.16	6.04	6.04	0.98038	.	.	.	.	.	T	0.00524	0.0017	N	0.01096	-1.015	0.80722	D	1	P	0.40681	0.727	B	0.29862	0.108	T	0.66582	-0.5887	9	0.02654	T	1	.	20.5948	0.99439	0.0:0.0:1.0:0.0	.	2925	Q8TDW7-3	.	T	2925;2925;2775	ENSP00000298047:A2925T;ENSP00000387040:A2925T;ENSP00000432586:A2775T	ENSP00000298047:A2925T	A	+	1	0	FAT3	92174600	1.000000	0.71417	1.000000	0.80357	0.231000	0.25187	2.154000	0.42291	2.873000	0.98535	0.563000	0.77884	GCG		0.562	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781		4	77	0	0	0	1	0	4	77					A	92534952	G	A	92534952	3	1	409	1	0	0	0	0	1	0	0	0	5691	1087	38	1	8807	1	FAT3	11	92534952	Missense_Mutation	SNP	G	TCGA-VP-A872-01A-11D-A34U-08	17096434	92534952	42471564	19	19869											
HSPA8	3312	broad.mit.edu	37	chr11	122930969	122930969	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gcactgtgaccacagcattgGtaacagtctaggaataagga	14	8	11	8	0	1	1	0	1	1	0	1	3	1	3	1	3	2	3	1	3	4	4	rs141156763	byFrequency	TCGA-VP-A872-01A-11D-A34U-08	TCGA-VP-A872-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a653276f-248d-4ffc-9198-d713cdcee5bd	b941d9f4-c0bf-4f8c-8360-2d69964f2e8a	g.chr11:122930969G>T	ENST00000532636.1	-	4	538	c.419C>A	c.(418-420)aCc>aAc	p.T140N	SNORD14E_ENST00000364009.1_RNA|HSPA8_ENST00000526110.1_Intron|SNORD14D_ENST00000384390.1_RNA|HSPA8_ENST00000453788.2_Missense_Mutation_p.T140N|HSPA8_ENST00000526862.1_5'Flank|HSPA8_ENST00000227378.3_Missense_Mutation_p.T140N|HSPA8_ENST00000533540.1_Intron|HSPA8_ENST00000534624.1_Missense_Mutation_p.T140N|HSPA8_ENST00000534319.1_5'UTR|SNORD14C_ENST00000365382.1_RNA			P11142	HSP7C_HUMAN	heat shock 70kDa protein 8	140					ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|chaperone mediated protein folding requiring cofactor (GO:0051085)|clathrin coat disassembly (GO:0072318)|gene expression (GO:0010467)|membrane organization (GO:0061024)|mRNA metabolic process (GO:0016071)|mRNA processing (GO:0006397)|negative regulation of fibril organization (GO:1902904)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotransmitter secretion (GO:0007269)|post-Golgi vesicle-mediated transport (GO:0006892)|protein folding (GO:0006457)|protein refolding (GO:0042026)|regulation of cell cycle (GO:0051726)|response to unfolded protein (GO:0006986)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|synaptic transmission (GO:0007268)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	blood microparticle (GO:0072562)|clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane (GO:0061202)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|intracellular (GO:0005622)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|Prp19 complex (GO:0000974)|ribonucleoprotein complex (GO:0030529)|spliceosomal complex (GO:0005681)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled (GO:0042623)|enzyme binding (GO:0019899)|G-protein coupled receptor binding (GO:0001664)|heat shock protein binding (GO:0031072)|MHC class II protein complex binding (GO:0023026)|poly(A) RNA binding (GO:0044822)|ubiquitin protein ligase binding (GO:0031625)|unfolded protein binding (GO:0051082)			breast(1)|central_nervous_system(7)|endometrium(1)|kidney(9)|large_intestine(4)|lung(13)|upper_aerodigestive_tract(1)	36		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		CACAGCATTGGTAACAGTCTA	0.393													G|||	2	0.000399361	0	0	5008	,	,		20306	0		0.002	False		,,,				2504	0				Colon(21;486 594 5900 6733 14272)	ENST00000534624.1																			0				breast(1)|central_nervous_system(7)|endometrium(1)|kidney(9)|large_intestine(4)|lung(13)|upper_aerodigestive_tract(1)	36						c.(418-420)aCc>aAc		heat shock 70kDa protein 8							60	59	59					11																	122930969		2202	4299	6501	SO:0001583	missense	3312				cellular membrane organization|interspecies interaction between organisms|mRNA metabolic process|negative regulation of transcription, DNA-dependent|neurotransmitter secretion|post-Golgi vesicle-mediated transport|protein folding|response to unfolded protein|transcription, DNA-dependent	cell surface|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|melanosome|plasma membrane|ribonucleoprotein complex	ATP binding|ATPase activity, coupled|protein binding	g.chr11:122930969G>T	Y00371	CCDS8440.1, CCDS44754.1	11q24.1	2011-09-02	2002-08-29		ENSG00000109971	ENSG00000109971		"Heat shock proteins / HSP70"	5241	protein-coding gene	gene with protein product		600816	"heat shock 70kD protein 8"	HSPA10		8530083, 3037489	Standard	NM_006597		Approved	HSC71, HSC70, HSP73	uc001pyo.3	P11142	OTTHUMG00000166030	ENST00000532636.1:c.419C>A	11.37:g.122930969G>T	ENSP00000437125:p.Thr140Asn					HSPA8_ENST00000526110.1_Intron|HSPA8_ENST00000227378.3_Missense_Mutation_p.T140N|HSPA8_ENST00000534319.1_5'UTR|HSPA8_ENST00000533540.1_Intron|HSPA8_ENST00000532636.1_Missense_Mutation_p.T140N|HSPA8_ENST00000453788.2_Missense_Mutation_p.T140N	p.T140N	NM_006597.4	NP_006588.1	P11142	HSP7C_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)	4	695	-		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	140					Q9H3R6	Missense_Mutation	SNP	ENST00000532636.1	37	c.419C>A	CCDS8440.1	2	9.157509157509158E-4	0	0.0	0	0.0	0	0.0	2	0.002638522427440633	G	14.31	2.498410	0.44455	.	.	ENSG00000109971	ENST00000532636;ENST00000534624;ENST00000453788;ENST00000227378;ENST00000528292;ENST00000525463;ENST00000525624;ENST00000534567;ENST00000527387;ENST00000532182	T;T;T;T;T;T;T;T;T;T	0.01068	5.38;5.38;5.38;5.38;5.38;5.38;5.38;5.38;5.38;5.38	4.86	4.86	0.63082	.	0.000000	0.85682	D	0.000000	T	0.01695	0.0054	L	0.37750	1.13	0.80722	D	1	B;B;B;B	0.06786	0.001;0.0;0.0;0.001	B;B;B;B	0.12156	0.007;0.002;0.001;0.003	T	0.63395	-0.6647	10	0.37606	T	0.19	-14.785	18.3296	0.90264	0.0:0.0:1.0:0.0	.	140;140;140;140	B4DTX2;E7ET08;P11142-2;P11142	.;.;.;HSP7C_HUMAN	N	140;140;140;140;80;99;140;140;140;140	ENSP00000437125:T140N;ENSP00000432083:T140N;ENSP00000404372:T140N;ENSP00000227378:T140N;ENSP00000432884:T80N;ENSP00000436762:T99N;ENSP00000435154:T140N;ENSP00000431641:T140N;ENSP00000436183:T140N;ENSP00000434415:T140N	ENSP00000227378:T140N	T	-	2	0	HSPA8	122436179	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	3.800000	0.55537	2.369000	0.80426	0.561000	0.74099	ACC		0.393	HSPA8-004	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000387515.1			8	77	1	0	0.0477658	1	0.0490926	8	77					T	122930969	G	T	122930969	3	4	409	1	0	0	0	0	1	0	0	0	7416	1261	44	5	1545	5	HSPA8	11	122930969	Missense_Mutation	SNP	G	TCGA-VP-A872-01A-11D-A34U-08	30396017	122930969	12075547	20	19870											
EMG1	10436	broad.mit.edu	37	chr12	7080210	7080211	+	Splice_Site	INS	-	-	G																															aaacaagatcggaggccgtaINSgtttattgtggtgctggaag																								rs60117710|rs374779752|rs200041551		TCGA-VP-A872-01A-11D-A34U-08	TCGA-VP-A872-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a653276f-248d-4ffc-9198-d713cdcee5bd	b941d9f4-c0bf-4f8c-8360-2d69964f2e8a	g.chr12:7080210_7080211insG	ENST00000261406.6	+	2	266		c.e2-1		PHB2_ENST00000544134.1_5'Flank|EMG1_ENST00000546220.1_3'UTR|PHB2_ENST00000542912.1_5'Flank|PHB2_ENST00000440277.1_5'Flank|PHB2_ENST00000535923.1_5'Flank|PHB2_ENST00000399433.2_5'Flank|PHB2_ENST00000546111.1_5'Flank	NM_006331.7	NP_006322.4			EMG1 N1-specific pseudouridine methyltransferase																		CGGAGGCCGTAGTTTATTGTGG	0.569													GG|G|GG|deletion	5008	1	1	1	5008	,	,		18008	1		1	False		,,,				2504	1					ENST00000546220.1																			0													EMG1 N1-specific pseudouridine methyltransferase				3732,16		1865,2,7						3	1		dbSNP_129	28	7880,30		3934,12,9	no	frameshift	EMG1	NM_006331.7		5799,14,16	A1A1,A1R,RR		0.3793,0.4269,0.3946				11612,46				SO:0001630	splice_region_variant	10436				ribosomal small subunit biogenesis	cytoplasm|nucleolus	rRNA (pseudouridine) methyltransferase activity|rRNA binding	g.chr12:7080210_7080211insG	U72514	CCDS73430.1	12p13	2013-05-22	2013-05-22			ENSG00000126749			16912	protein-coding gene	gene with protein product		611531	"EMG1 nucleolar protein homolog (S. cerevisiae)"			9074930, 11935223, 19463982	Standard	NM_006331		Approved	C2F, NEP1, Grcc2f	uc001qsh.4	Q92979		ENST00000261406.6:c.124-1->G	12.37:g.7080211_7080211dupG						U47924.19_ENST00000564245.1_RNA|U47924.28_ENST00000261406.6_lincRNA				Q92979	NEP1_HUMAN			0	155_156	+									RNA	INS	ENST00000261406.6	37																																																																																						0.569	EMG1-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_006331	Intron	6	9						6	9	---	---	---	---	G	7080211	-	G	7080210	8	5	409	1	0	1	1	0	0	0	1	0	5090	420	15	0	126	0	EMG1	12	7080210	Splice_Site	INS	-	TCGA-VP-A872-01A-11D-A34U-08		7080210	126771685	21	19871											
PRPF40B	25766	broad.mit.edu	37	chr12	50025308	50025308	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatgcttccaccaatgggggCgccaccaccactcacacagg	11	5	9	16	1	1	0	1	0	0	0	2	0	2	0	5	3	1	1	5	3	2	1	rs149751647		TCGA-VP-A872-01A-11D-A34U-08	TCGA-VP-A872-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a653276f-248d-4ffc-9198-d713cdcee5bd	b941d9f4-c0bf-4f8c-8360-2d69964f2e8a	g.chr12:50025308C>T	ENST00000380281.1	+	2	207	c.143C>T	c.(142-144)gCg>gTg	p.A48V	PRPF40B_ENST00000548825.2_Missense_Mutation_p.A70V|PRPF40B_ENST00000261897.1_Missense_Mutation_p.A42V			Q6NWY9	PR40B_HUMAN	PRP40 pre-mRNA processing factor 40 homolog B (S. cerevisiae)	48	Pro-rich.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	34						CCAATGGGGGCGCCACCACCA	0.612																																						ENST00000261897.1																			0				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	34						c.(124-126)gCg>gTg		PRP40 pre-mRNA processing factor 40 homolog B (S. cerevisiae)		C	VAL/ALA,VAL/ALA	0,4406		0,0,2203	64	68	67		143,125	4.5	1	12	dbSNP_134	67	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	PRPF40B	NM_001031698.1,NM_012272.1	64,64	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging	48/872,42/859	50025308	1,13005	2203	4300	6503	SO:0001583	missense	25766				mRNA processing|RNA splicing	nuclear speck		g.chr12:50025308C>T	AF049525	CCDS31796.1, CCDS31796.2	12q13.12	2014-09-17	2006-04-04			ENSG00000110844			25031	protein-coding gene	gene with protein product	"Huntingtin interacting protein C"		"PRP40 pre-mRNA processing factor 40 homolog B (yeast)"			9700202	Standard	NM_001031698		Approved	HYPC	uc001rus.2	Q6NWY9		ENST00000380281.1:c.143C>T	12.37:g.50025308C>T	ENSP00000369634:p.Ala48Val					PRPF40B_ENST00000548825.2_Missense_Mutation_p.A70V|PRPF40B_ENST00000380281.1_Missense_Mutation_p.A48V	p.A42V			Q6NWY9	PR40B_HUMAN			2	676	+			48			Pro-rich.		O75401|Q6PI09|Q6ZWB3|Q8NCZ1|Q9H5G4|Q9NT95	Missense_Mutation	SNP	ENST00000380281.1	37	c.125C>T		.	.	.	.	.	.	.	.	.	.	C	12.03	1.814713	0.32053	0.0	1.16E-4	ENSG00000110844	ENST00000548825;ENST00000261897;ENST00000380281	T;T;T	0.23754	1.92;1.9;1.89	5.41	4.47	0.54385	.	0.107089	0.39341	N	0.001388	T	0.13457	0.0326	N	0.22421	0.69	0.42471	D	0.992827	P;P;P	0.42871	0.688;0.792;0.792	B;B;B	0.31337	0.06;0.128;0.128	T	0.06162	-1.0842	9	.	.	.	-11.7007	11.7512	0.51849	0.0:0.6945:0.3055:0.0	.	48;42;48	Q6NWY9;Q6NWY9-2;Q6NWY9-3	PR40B_HUMAN;.;.	V	70;42;48	ENSP00000448073:A70V;ENSP00000261897:A42V;ENSP00000369634:A48V	.	A	+	2	0	PRPF40B	48311575	0.999000	0.42202	0.994000	0.49952	0.993000	0.82548	3.523000	0.53488	2.699000	0.92147	0.655000	0.94253	GCG		0.612	PRPF40B-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000404838.1	NM_012272		14	50	0	0	0	1	0	14	50					T	50025308	C	T	50025308	3	4	409	1	0	0	0	0	1	0	0	0	12572	768	27	1	149	1	PRPF40B	12	50025308	Missense_Mutation	SNP	C	TCGA-VP-A872-01A-11D-A34U-08	42945098	50025308	83826587	22	19872											
INHBE	83729	broad.mit.edu	37	chr12	57849952	57849952	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaccacctgtaccatgcccGcctgtggctgcacgtgctcc	5	8	9	19	2	0	0	0	0	0	0	1	0	1	0	7	1	4	4	7	1	1	1			TCGA-VP-A872-01A-11D-A34U-08	TCGA-VP-A872-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a653276f-248d-4ffc-9198-d713cdcee5bd	b941d9f4-c0bf-4f8c-8360-2d69964f2e8a	g.chr12:57849952G>A	ENST00000266646.2	+	2	590	c.374G>A	c.(373-375)cGc>cAc	p.R125H	INHBE_ENST00000551553.1_3'UTR	NM_031479.3	NP_113667.1	P58166	INHBE_HUMAN	inhibin, beta E	125					growth (GO:0040007)	extracellular region (GO:0005576)				breast(2)|central_nervous_system(1)|large_intestine(2)|lung(7)|prostate(1)|skin(2)	15						TACCATGCCCGCCTGTGGCTG	0.602											OREG0021944	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									GBM(191;1808 2166 15720 36624 50371)	ENST00000266646.2																			0				breast(2)|central_nervous_system(1)|large_intestine(2)|lung(7)|prostate(1)|skin(2)	15						c.(373-375)cGc>cAc		inhibin, beta E							139	140	140					12																	57849952		2203	4300	6503	SO:0001583	missense	83729				growth	extracellular region	growth factor activity|hormone activity	g.chr12:57849952G>A		CCDS8939.1	12q13.2	2008-02-05				ENSG00000139269			24029	protein-coding gene	gene with protein product		612031				12242034	Standard	NM_031479		Approved	activin, MGC4638	uc001snw.3	P58166		ENST00000266646.2:c.374G>A	12.37:g.57849952G>A	ENSP00000266646:p.Arg125His		OREG0021944	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1026	INHBE_ENST00000551553.1_3'UTR	p.R125H	NM_031479.3	NP_113667.1	P58166	INHBE_HUMAN			2	590	+			125						Missense_Mutation	SNP	ENST00000266646.2	37	c.374G>A	CCDS8939.1	.	.	.	.	.	.	.	.	.	.	G	9.852	1.194025	0.22037	.	.	ENSG00000139269	ENST00000547970;ENST00000266646	D;T	0.81908	-1.55;-0.12	4.37	4.37	0.52481	Transforming growth factor-beta, N-terminal (1);	0.192014	0.47093	D	0.000253	D	0.85796	0.5780	L	0.50919	1.6	0.26772	N	0.969788	D	0.76494	0.999	D	0.71414	0.973	T	0.76637	-0.2886	10	0.40728	T	0.16	-5.6135	8.397	0.32564	0.1052:0.0:0.8948:0.0	.	125	P58166	INHBE_HUMAN	H	70;125	ENSP00000450212:R70H;ENSP00000266646:R125H	ENSP00000266646:R125H	R	+	2	0	INHBE	56136219	0.995000	0.38212	0.999000	0.59377	0.373000	0.29922	2.820000	0.48057	2.424000	0.82194	0.561000	0.74099	CGC		0.602	INHBE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406773.1	NM_031479		4	77	0	0	0	1	0	4	77					A	57849952	G	A	57849952	3	1	409	1	0	0	0	0	1	0	0	0	7744	1087	38	1	380	1	INHBE	12	57849952	Missense_Mutation	SNP	G	TCGA-VP-A872-01A-11D-A34U-08	7824644	57849952	76001943	23	19873											
IVD	3712	broad.mit.edu	37	chr15	40707600	40707600	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gcctttctcctttctgacagGctcatgcaagcggtcctgga	6	12	10	13	1	3	1	1	1	2	0	5	2	4	2	3	3	2	2	3	3	1	2			TCGA-VP-A872-01A-11D-A34U-08	TCGA-VP-A872-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a653276f-248d-4ffc-9198-d713cdcee5bd	b941d9f4-c0bf-4f8c-8360-2d69964f2e8a	g.chr15:40707600G>A	ENST00000249760.2	+	9	1222	c.879G>A	c.(877-879)ggG>ggA	p.G293G	IVD_ENST00000487418.2_Splice_Site_p.G296G|IVD_ENST00000479013.2_Splice_Site_p.G266G	NM_002225.3	NP_002216.2	P26440	IVD_HUMAN	isovaleryl-CoA dehydrogenase	293					branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|leucine catabolic process (GO:0006552)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)	flavin adenine dinucleotide binding (GO:0050660)|isovaleryl-CoA dehydrogenase activity (GO:0008470)			kidney(1)|lung(5)|ovary(2)|prostate(1)	9		all_cancers(109;1.19e-18)|all_epithelial(112;1.52e-15)|Lung NSC(122;5.14e-11)|all_lung(180;1.27e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.65e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0808)	Flavin adenine dinucleotide(DB03147)	TTTCTGACAGGCTCATGCAAG	0.602																																					GBM(31;293 617 7486 32527 34655)	ENST00000249760.2																			0				kidney(1)|lung(5)|ovary(2)|prostate(1)	9						c.e9-1		isovaleryl-CoA dehydrogenase							70	58	62					15																	40707600		2203	4300	6503	SO:0001630	splice_region_variant	3712				leucine catabolic process	mitochondrial matrix	flavin adenine dinucleotide binding|isovaleryl-CoA dehydrogenase activity	g.chr15:40707600G>A	AF038317	CCDS10057.1, CCDS10057.2, CCDS53930.1	15q14-q15	2010-05-11	2010-05-11		ENSG00000128928	ENSG00000128928	1.3.99.10		6186	protein-coding gene	gene with protein product		607036	"isovaleryl Coenzyme A dehydrogenase", "isovaleryl CoA dehydrogenase"			2063866	Standard	NM_002225		Approved	ACAD2	uc001zls.3	P26440	OTTHUMG00000129984	ENST00000249760.2:c.879-1G>A	15.37:g.40707600G>A						IVD_ENST00000487418.2_Splice_Site_p.G296_splice|IVD_ENST00000479013.2_Splice_Site_p.G266_splice	p.G293_splice	NM_002225.3	NP_002216.2	P26440	IVD_HUMAN		GBM - Glioblastoma multiforme(113;3.65e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0808)	9	1222	+		all_cancers(109;1.19e-18)|all_epithelial(112;1.52e-15)|Lung NSC(122;5.14e-11)|all_lung(180;1.27e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)	293					B2RCV5|B3KVI7|J3KR54|Q53XZ9|Q96AF6	Splice_Site	SNP	ENST00000249760.2	37	c.878_splice		.	.	.	.	.	.	.	.	.	.	G	19.30	3.801048	0.70567	.	.	ENSG00000128928	ENST00000473112	D	0.97688	-4.49	5.38	5.38	0.77491	.	0.000000	0.85682	D	0.000000	D	0.98232	0.9415	.	.	.	0.80722	D	1	.	.	.	.	.	.	D	0.98900	1.0776	7	0.87932	D	0	.	14.7125	0.69244	0.0:0.1447:0.8553:0.0	.	.	.	.	D	213	ENSP00000417256:G213D	ENSP00000417256:G213D	G	+	2	0	IVD	38494892	0.995000	0.38212	0.963000	0.40424	0.261000	0.26267	1.837000	0.39201	2.520000	0.84964	0.467000	0.42956	GGC		0.602	IVD-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding			Silent	3	28	0	0	0	1	0	3	28					A	40707600	G	A	40707600	5	1	409	1	0	0	0	0	0	0	1	0	7928	1217	42	3	922	3	IVD	15	40707600	Splice_Site	SNP	G	TCGA-VP-A872-01A-11D-A34U-08		40707600	61823792	24	19874											
TP53	7157	broad.mit.edu	37	chr17	7577094	7577094	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	attctcttcctctgtgcgccGgtctctcccaggacaggcac	5	11	9	16	2	3	0	0	0	3	0	7	1	5	1	3	3	1	1	3	3	0	2	rs28934574		TCGA-VP-A872-01A-11D-A34U-08	TCGA-VP-A872-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a653276f-248d-4ffc-9198-d713cdcee5bd	b941d9f4-c0bf-4f8c-8360-2d69964f2e8a	g.chr17:7577094G>A	ENST00000269305.4	-	8	1033	c.844C>T	c.(844-846)Cgg>Tgg	p.R282W	TP53_ENST00000574684.1_5'Flank|TP53_ENST00000420246.2_Missense_Mutation_p.R282W|TP53_ENST00000445888.2_Missense_Mutation_p.R282W|TP53_ENST00000359597.4_Missense_Mutation_p.R282W|TP53_ENST00000455263.2_Missense_Mutation_p.R282W|TP53_ENST00000413465.2_Intron	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	282	Interaction with AXIN1. {ECO:0000250}.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		DR -> EW (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in a sporadic cancer; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|Ref.22}.|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation; does not induce SNAI1 degradation; dbSNP:rs28934574). {ECO:0000269|PubMed:8829627}.		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R282W(401)|p.R282G(29)|p.0?(8)|p.R282fs*24(4)|p.R282R(3)|p.?(2)|p.D281fs*63(2)|p.D281_R282>EW(2)|p.A276_R283delACPGRDRR(1)|p.D281_R282insXX(1)|p.C275fs*20(1)|p.R282_E287delRRTEEE(1)|p.L265_K305del41(1)|p.D281_R282delDR(1)|p.G279fs*59(1)|p.R280fs*62(1)|p.S269fs*21(1)|p.R282fs*63(1)|p.V272_K292del21(1)|p.C275_R283delCACPGRDRR(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	TCTGTGCGCCGGTCTCTCCCA	0.557		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"Mis, N, F"	tumor protein p53			"L, E, M, O"		"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"	"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"		463	Substitution - Missense(430)|Whole gene deletion(8)|Deletion - In frame(6)|Deletion - Frameshift(5)|Insertion - Frameshift(4)|Substitution - coding silent(3)|Unknown(2)|Complex - frameshift(2)|Complex - compound substitution(2)|Insertion - In frame(1)	p.R282W(401)|p.R282G(29)|p.0?(8)|p.R282fs*24(4)|p.R282R(3)|p.?(2)|p.D281fs*63(2)|p.D281_R282>EW(2)|p.A276_R283delACPGRDRR(1)|p.D281_R282insXX(1)|p.C275fs*20(1)|p.R282_E287delRRTEEE(1)|p.L265_K305del41(1)|p.D281_R282delDR(1)|p.G279fs*59(1)|p.R280fs*62(1)|p.S269fs*21(1)|p.R282fs*63(1)|p.V272_K292del21(1)|p.C275_R283delCACPGRDRR(1)	large_intestine(136)|oesophagus(49)|upper_aerodigestive_tract(43)|stomach(33)|central_nervous_system(29)|breast(29)|lung(26)|ovary(21)|skin(20)|urinary_tract(16)|haematopoietic_and_lymphoid_tissue(16)|pancreas(10)|biliary_tract(5)|liver(5)|bone(5)|vulva(4)|prostate(4)|endometrium(3)|peritoneum(2)|thyroid(2)|NS(2)|autonomic_ganglia(1)|soft_tissue(1)|salivary_gland(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185	GRCh37	CM056413|CM920678	TP53	M	rs28934574	c.(844-846)Cgg>Tgg	Other conserved DNA damage response genes	tumor protein p53		G	TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG	0,4406		0,0,2203	83	71	75	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	844,844,844,844,448,448,448	1.5	0.3	17	dbSNP_125	75	2,8598	2.2+/-6.3	1,0,4299	no	missense,missense,missense,missense,missense,missense,missense	TP53	NM_000546.4,NM_001126112.1,NM_001126113.1,NM_001126114.1,NM_001126115.1,NM_001126116.1,NM_001126117.1	101,101,101,101,101,101,101	1,0,6502	AA,AG,GG		0.0233,0.0,0.0154	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	282/394,282/394,282/347,282/342,150/262,150/210,150/215	7577094	2,13004	2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577094G>A	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"Li-Fraumeni syndrome"	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.844C>T	17.37:g.7577094G>A	ENSP00000269305:p.Arg282Trp	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_ENST00000269305.4_Missense_Mutation_p.R282W|TP53_ENST00000359597.4_Missense_Mutation_p.R282W|TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Missense_Mutation_p.R282W|TP53_ENST00000455263.2_Missense_Mutation_p.R282W	p.R282W	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	8	976	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	282		DR -> EW (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in a sporadic cancer; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934574).	Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.844C>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.057525	0.76074	0.0	2.33E-4	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99869	-7.34;-7.34;-7.34;-7.34;-7.34;-7.34	4.75	1.49	0.22878	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99825	0.9922	M	0.89968	3.075	0.58432	A	0.999999	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;0.998;1.0;0.999	D	0.97713	1.0192	9	0.87932	D	0	-12.0909	8.7508	0.34613	0.0:0.1376:0.5833:0.2792	rs28934574	282;282;282;282	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	W	282;282;282;282;282;271;150	ENSP00000352610:R282W;ENSP00000269305:R282W;ENSP00000398846:R282W;ENSP00000391127:R282W;ENSP00000391478:R282W;ENSP00000425104:R150W	ENSP00000269305:R282W	R	-	1	2	TP53	7517819	1.000000	0.71417	0.327000	0.25402	0.901000	0.52897	4.477000	0.60223	0.174000	0.19809	0.462000	0.41574	CGG		0.557	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		4	11	0	0	0	1	0	4	11					A	7577094	G	A	7577094	3	1	409	1	0	0	0	0	1	0	0	0	16378	1115	39	2	442	2	TP53	17	7577094	Missense_Mutation	SNP	G	TCGA-VP-A872-01A-11D-A34U-08		7577094	73618116	25	19875											
MYH4	4622	broad.mit.edu	37	chr17	10369613	10369613	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gatcatccaggctgcgtaacGctctttgaggttatacagca	10	11	10	10	2	2	1	1	1	1	0	3	2	3	1	1	2	4	5	1	2	3	4			TCGA-VP-A872-01A-11D-A34U-08	TCGA-VP-A872-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a653276f-248d-4ffc-9198-d713cdcee5bd	b941d9f4-c0bf-4f8c-8360-2d69964f2e8a	g.chr17:10369613G>A	ENST00000255381.2	-	4	435	c.325C>T	c.(325-327)Cgt>Tgt	p.R109C	RP11-799N11.1_ENST00000581304.1_RNA|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	109	Myosin motor.				actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|membrane organization (GO:0061024)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|response to activity (GO:0014823)	muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|microfilament motor activity (GO:0000146)			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						GCTGCGTAACGCTCTTTGAGG	0.458																																						ENST00000255381.2																			0				NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						c.(325-327)Cgt>Tgt		myosin, heavy chain 4, skeletal muscle							266	222	237					17																	10369613		2203	4300	6503	SO:0001583	missense	4622				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr17:10369613G>A		CCDS11154.1	17p13.1	2013-09-19	2006-09-29		ENSG00000264424	ENSG00000264424		"Myosins / Myosin superfamily : Class II"	7574	protein-coding gene	gene with protein product		160742	"myosin, heavy polypeptide 4, skeletal muscle"			8518795	Standard	NM_017533		Approved	MYH2B, MyHC-2B, MyHC-IIb	uc002gmn.3	Q9Y623	OTTHUMG00000130365	ENST00000255381.2:c.325C>T	17.37:g.10369613G>A	ENSP00000255381:p.Arg109Cys					CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA	p.R109C	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN			4	435	-			109			Myosin head-like.			Missense_Mutation	SNP	ENST00000255381.2	37	c.325C>T	CCDS11154.1	.	.	.	.	.	.	.	.	.	.	G	23.9	4.472887	0.84640	.	.	ENSG00000141048;ENSG00000125414	ENST00000255381;ENST00000532288	D	0.84944	-1.92	4.85	3.88	0.44766	Myosin head, motor domain (2);	0.195388	0.24915	N	0.034593	D	0.96445	0.8840	H	0.99973	5.135	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97314	0.9939	10	0.87932	D	0	.	13.3899	0.60818	0.0763:0.0:0.9237:0.0	.	109	Q9Y623	MYH4_HUMAN	C	109	ENSP00000255381:R109C	ENSP00000431873:R109C	R	-	1	0	MYH2;MYH4	10310338	1.000000	0.71417	0.997000	0.53966	0.989000	0.77384	7.529000	0.81952	1.397000	0.46682	0.650000	0.86243	CGT		0.458	MYH4-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252731.1	NM_017533		3	56	0	0	0	1	0	3	56					A	10369613	G	A	10369613	3	1	409	1	0	0	0	0	1	0	0	0	10037	1087	38	1	5642	1	MYH4	17	10369613	Missense_Mutation	SNP	G	TCGA-VP-A872-01A-11D-A34U-08	2792519	10369613	70825597	26	19876											
SCN4A	6329	broad.mit.edu	37	chr17	62045515	62045515	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gccataccatgtgtcattgcCgtaccacgtgtcattgctgt	7	13	9	12	2	2	0	2	0	0	0	2	0	2	0	4	0	4	2	4	0	2	4			TCGA-VP-A872-01A-11D-A34U-08	TCGA-VP-A872-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a653276f-248d-4ffc-9198-d713cdcee5bd	b941d9f4-c0bf-4f8c-8360-2d69964f2e8a	g.chr17:62045515C>T	ENST00000435607.1	-	6	980	c.904G>A	c.(904-906)Ggc>Agc	p.G302S	SCN4A_ENST00000578147.1_Missense_Mutation_p.G302S	NM_000334.4	NP_000325.4	P35499	SCN4A_HUMAN	sodium channel, voltage-gated, type IV, alpha subunit	302					membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Diclofenac(DB00586)|Flecainide(DB01195)|Propofol(DB00818)|Valproic Acid(DB00313)|Zonisamide(DB00909)	GTGTCATTGCCGTACCACGTG	0.552																																						ENST00000435607.1																			0				breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101						c.(904-906)Ggc>Agc		sodium channel, voltage-gated, type IV, alpha subunit	Lamotrigine(DB00555)						292	286	288					17																	62045515		2178	4279	6457	SO:0001583	missense	6329				muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr17:62045515C>T	U24693		17q23.3	2012-02-26	2007-01-23					"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10591	protein-coding gene	gene with protein product		603967		HYKPP		1654742, 1659948, 16382098	Standard	XM_005257566		Approved	Nav1.4, HYPP, SkM1	uc002jds.1	P35499		ENST00000435607.1:c.904G>A	17.37:g.62045515C>T	ENSP00000396320:p.Gly302Ser					SCN4A_ENST00000578147.1_Missense_Mutation_p.G302S	p.G302S	NM_000334.4	NP_000325.4	P35499	SCN4A_HUMAN			6	980	-			302					Q15478|Q16447|Q7Z6B1	Missense_Mutation	SNP	ENST00000435607.1	37	c.904G>A	CCDS45761.1	.	.	.	.	.	.	.	.	.	.	C	9.947	1.219059	0.22373	.	.	ENSG00000007314	ENST00000435607	D	0.95885	-3.84	4.26	-1.8	0.07907	Ion transport (1);	1.672550	0.02443	N	0.084790	D	0.88862	0.6552	N	0.19112	0.55	0.09310	N	1	B	0.02656	0.0	B	0.08055	0.003	T	0.80074	-0.1534	10	0.14656	T	0.56	.	4.7766	0.13182	0.1419:0.5153:0.0:0.3428	.	302	P35499	SCN4A_HUMAN	S	302	ENSP00000396320:G302S	ENSP00000396320:G302S	G	-	1	0	SCN4A	59399247	0.000000	0.05858	0.007000	0.13788	0.008000	0.06430	-1.141000	0.03207	-0.056000	0.13221	0.563000	0.77884	GGC		0.552	SCN4A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_000334		7	145	0	0	0	1	0	7	145					T	62045515	C	T	62045515	3	4	409	1	0	0	0	0	1	0	0	0	13920	652	23	2	4682	2	SCN4A	17	62045515	Missense_Mutation	SNP	C	TCGA-VP-A872-01A-11D-A34U-08	51675902	62045515	19149695	27	19877											
ABCA9	10350	broad.mit.edu	37	chr17	66980239	66980239	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggccactcggtcacacaccGcctcagcctctgccatgtag	7	8	9	17	2	3	0	2	0	1	0	4	0	3	0	5	2	2	1	5	2	1	1	rs375389452		TCGA-VP-A872-01A-11D-A34U-08	TCGA-VP-A872-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a653276f-248d-4ffc-9198-d713cdcee5bd	b941d9f4-c0bf-4f8c-8360-2d69964f2e8a	g.chr17:66980239G>A	ENST00000340001.4	-	35	4668	c.4457C>T	c.(4456-4458)gCg>gTg	p.A1486V	ABCA9_ENST00000453985.2_Missense_Mutation_p.A1448V|ABCA9_ENST00000482072.1_5'Flank|ABCA9_ENST00000370732.2_3'UTR	NM_080283.3	NP_525022.2	Q8IUA7	ABCA9_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 9	1486	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	91	Breast(10;1.47e-12)					GTCACACACCGCCTCAGCCTC	0.572																																						ENST00000340001.4																			0				NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	91						c.(4456-4458)gCg>gTg		ATP-binding cassette, sub-family A (ABC1), member 9		G	VAL/ALA	1,4405	2.1+/-5.4	0,1,2202	88	74	79		4457	4.9	0.9	17		79	0,8600		0,0,4300	no	missense	ABCA9	NM_080283.3	64	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	1486/1625	66980239	1,13005	2203	4300	6503	SO:0001583	missense	10350				transport	integral to membrane	ATP binding|ATPase activity	g.chr17:66980239G>A	AF423307	CCDS11681.1	17q24	2012-03-14			ENSG00000154258	ENSG00000154258		"ATP binding cassette transporters / subfamily A"	39	protein-coding gene	gene with protein product		612507					Standard	XM_005256934		Approved	EST640918	uc002jhu.3	Q8IUA7	OTTHUMG00000140371	ENST00000340001.4:c.4457C>T	17.37:g.66980239G>A	ENSP00000342216:p.Ala1486Val					ABCA9_ENST00000453985.2_Missense_Mutation_p.A1448V|ABCA9_ENST00000370732.2_3'UTR	p.A1486V	NM_080283.3	NP_525022.2	Q8IUA7	ABCA9_HUMAN			35	4668	-	Breast(10;1.47e-12)		1486			ABC transporter 2.		Q6P655|Q8N2S4|Q8WWZ5|Q96MD8	Missense_Mutation	SNP	ENST00000340001.4	37	c.4457C>T	CCDS11681.1	.	.	.	.	.	.	.	.	.	.	G	32	5.136693	0.94517	2.27E-4	0.0	ENSG00000154258	ENST00000340001;ENST00000453985	D	0.90563	-2.69	4.86	4.86	0.63082	ATPase, AAA+ type, core (1);ABC transporter-like (1);	0.359788	0.19902	N	0.103491	D	0.91192	0.7225	L	0.60067	1.865	0.80722	D	1	D	0.59767	0.986	P	0.48189	0.57	D	0.92492	0.6001	10	0.87932	D	0	.	17.3478	0.87314	0.0:0.0:1.0:0.0	.	1486	Q8IUA7	ABCA9_HUMAN	V	1486;1431	ENSP00000342216:A1486V	ENSP00000342216:A1486V	A	-	2	0	ABCA9	64491834	1.000000	0.71417	0.919000	0.36401	0.887000	0.51463	9.089000	0.94137	2.414000	0.81942	0.655000	0.94253	GCG		0.572	ABCA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277072.2	NM_172386		9	38	0	0	0	1	0	9	38					A	66980239	G	A	66980239	3	1	409	1	0	0	0	0	1	0	0	0	39	1087	38	1	437	1	ABCA9	17	66980239	Missense_Mutation	SNP	G	TCGA-VP-A872-01A-11D-A34U-08	4934724	66980239	14214971	28	19878											
ABCA7	10347	broad.mit.edu	37	chr19	1043361	1043361	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tgctcggagctgattggagcCctggacagccacccgctgtc	6	8	13	14	2	0	1	0	1	0	0	2	4	0	4	3	3	4	3	3	3	0	1			TCGA-VP-A872-01A-11D-A34U-08	TCGA-VP-A872-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a653276f-248d-4ffc-9198-d713cdcee5bd	b941d9f4-c0bf-4f8c-8360-2d69964f2e8a	g.chr19:1043361C>T	ENST00000263094.6	+	9	1050	c.819C>T	c.(817-819)gcC>gcT	p.A273A	ABCA7_ENST00000433129.1_Silent_p.A273A|ABCA7_ENST00000435683.2_Silent_p.A135A	NM_019112.3	NP_061985.2	Q8IZY2	ABCA7_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 7	273					apolipoprotein A-I-mediated signaling pathway (GO:0038027)|ATP catabolic process (GO:0006200)|cholesterol efflux (GO:0033344)|high-density lipoprotein particle assembly (GO:0034380)|memory (GO:0007613)|negative regulation of amyloid precursor protein biosynthetic process (GO:0042985)|negative regulation of ATPase activity (GO:0032780)|negative regulation of beta-amyloid formation (GO:1902430)|peptide cross-linking (GO:0018149)|phagocytosis (GO:0006909)|phospholipid efflux (GO:0033700)|phospholipid scrambling (GO:0017121)|positive regulation of ATPase activity (GO:0032781)|positive regulation of beta-amyloid clearance (GO:1900223)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of engulfment of apoptotic cell (GO:1901076)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of phagocytosis (GO:0050766)|positive regulation of phospholipid efflux (GO:1902995)|protein localization to nucleus (GO:0034504)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|ATP-binding cassette (ABC) transporter complex (GO:0043190)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|phagocytic cup (GO:0001891)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	apolipoprotein A-I receptor activity (GO:0034188)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|phospholipid transporter activity (GO:0005548)|transporter activity (GO:0005215)			NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TGATTGGAGCCCTGGACAGCC	0.642																																						ENST00000263094.6																			0				NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65						c.(817-819)gcC>gcT		ATP-binding cassette, sub-family A (ABC1), member 7							41	52	48					19																	1043361		2203	4299	6502	SO:0001819	synonymous_variant	10347				phagocytosis|transmembrane transport	ATP-binding cassette (ABC) transporter complex|endosome membrane|Golgi membrane|integral to membrane|plasma membrane	ATP binding|ATPase activity|transporter activity	g.chr19:1043361C>T	AF328787	CCDS12055.1	19p13.3	2012-03-14			ENSG00000064687	ENSG00000064687		"ATP binding cassette transporters / subfamily A"	37	protein-coding gene	gene with protein product		605414					Standard	NM_019112		Approved	ABCX	uc002lqw.4	Q8IZY2	OTTHUMG00000167547	ENST00000263094.6:c.819C>T	19.37:g.1043361C>T						ABCA7_ENST00000433129.1_Silent_p.A273A|ABCA7_ENST00000435683.2_Silent_p.A135A	p.A273A	NM_019112.3	NP_061985.2	Q8IZY2	ABCA7_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	9	1050	+		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)	273					Q96S58|Q9BZC4|Q9NR73|Q9UKP8	Silent	SNP	ENST00000263094.6	37	c.819C>T	CCDS12055.1																																																																																				0.642	ABCA7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000394993.1	NM_019112		12	37	0	0	0	1	0	12	37					T	1043361	C	T	1043361	2	4	409	1	0	0	0	0	0	0	0	1	37	610	22	3		3	ABCA7	19	1043361	Silent	SNP	C	TCGA-VP-A872-01A-11D-A34U-08		1043361	58085622	29	19879											
RYR1	6261	broad.mit.edu	37	chr19	38968362	38968362	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcaccagtactattactccGtgagggtctttgctggacag	8	12	11	10	1	2	1	1	1	1	0	3	2	3	2	2	2	3	2	2	2	3	4	rs200289457		TCGA-VP-A872-01A-11D-A34U-08	TCGA-VP-A872-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a653276f-248d-4ffc-9198-d713cdcee5bd	b941d9f4-c0bf-4f8c-8360-2d69964f2e8a	g.chr19:38968362G>A	ENST00000359596.3	+	30	4306	c.4306G>A	c.(4306-4308)Gtg>Atg	p.V1436M	RYR1_ENST00000360985.3_Missense_Mutation_p.V1436M|RYR1_ENST00000355481.4_Missense_Mutation_p.V1436M			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	1436	6 X approximate repeats.|B30.2/SPRY 3. {ECO:0000255|PROSITE- ProRule:PRU00548}.				calcium ion transport (GO:0006816)|cellular response to caffeine (GO:0071313)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|ossification involved in bone maturation (GO:0043931)|outflow tract morphogenesis (GO:0003151)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|skeletal muscle fiber development (GO:0048741)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|integral component of plasma membrane (GO:0005887)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|voltage-gated calcium channel activity (GO:0005245)			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	CTATTACTCCGTGAGGGTCTT	0.587																																						ENST00000355481.4																			0				NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285						c.(4306-4308)Gtg>Atg		ryanodine receptor 1 (skeletal)	Dantrolene(DB01219)						63	54	57					19																	38968362		2203	4300	6503	SO:0001583	missense	6261				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr19:38968362G>A	J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"Ion channels / Ryanodine receptors"	10483	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 137"	180901	"central core disease of muscle"	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.4306G>A	19.37:g.38968362G>A	ENSP00000352608:p.Val1436Met					RYR1_ENST00000360985.3_Missense_Mutation_p.V1436M|RYR1_ENST00000359596.3_Missense_Mutation_p.V1436M	p.V1436M	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		30	4437	+	all_cancers(60;7.91e-06)		1436			6 X approximate repeats.|B30.2/SPRY 3.		Q16314|Q16368|Q9NPK1|Q9P1U4	Missense_Mutation	SNP	ENST00000359596.3	37	c.4306G>A	CCDS33011.1	.	.	.	.	.	.	.	.	.	.	G	13.12	2.141848	0.37825	.	.	ENSG00000196218	ENST00000359596;ENST00000355481;ENST00000360985	T;T;T	0.73469	-0.75;-0.75;-0.75	5.37	5.37	0.77165	SPla/RYanodine receptor subgroup (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.090289	0.42548	U	0.000688	D	0.86760	0.6010	M	0.84326	2.69	0.42882	D	0.994177	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.88681	0.3202	10	0.87932	D	0	.	14.7644	0.69629	0.0:0.0:0.8549:0.1451	.	1436;1436	P21817-2;P21817	.;RYR1_HUMAN	M	1436	ENSP00000352608:V1436M;ENSP00000347667:V1436M;ENSP00000354254:V1436M	ENSP00000347667:V1436M	V	+	1	0	RYR1	43660202	1.000000	0.71417	0.961000	0.40146	0.353000	0.29299	4.664000	0.61540	2.551000	0.86045	0.306000	0.20318	GTG		0.587	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1			10	25	0	0	0	1	0	10	25					A	38968362	G	A	38968362	3	1	409	1	0	0	0	0	1	0	0	0	13768	1145	40	1	4424	1	RYR1	19	38968362	Missense_Mutation	SNP	G	TCGA-VP-A872-01A-11D-A34U-08	37925001	38968362	20160621	30	19880											
C20orf177	63939	broad.mit.edu	37	chr20	58519366	58519366	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttcgagctgaagaaattgAtccagtttactttgatcttc	10	16	7	8	1	2	4	0	3	2	1	5	5	3	4	1	0	2	2	1	0	3	6			TCGA-VP-A872-01A-11D-A34U-08	TCGA-VP-A872-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a653276f-248d-4ffc-9198-d713cdcee5bd	b941d9f4-c0bf-4f8c-8360-2d69964f2e8a	g.chr20:58519366A>G	ENST00000358293.3	+	5	783	c.368A>G	c.(367-369)gAt>gGt	p.D123G	FAM217B_ENST00000469084.1_Intron|FAM217B_ENST00000360816.3_Missense_Mutation_p.D123G	NM_001190826.1	NP_001177755.1	Q9NTX9	F217B_HUMAN	family with sequence similarity 217, member B	123																	GAAGAAATTGATCCAGTTTAC	0.458																																						ENST00000358293.3																			0											c.(367-369)gAt>gGt		family with sequence similarity 217, member B							80	81	81					20																	58519366		2203	4300	6503	SO:0001583	missense	63939							g.chr20:58519366A>G	AL109928	CCDS13484.1	20q13.33	2012-02-07	2012-02-07	2012-02-07	ENSG00000196227	ENSG00000196227			16170	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 177"	C20orf177			Standard	NM_022106		Approved	dJ551D2.5	uc002ybc.3	Q9NTX9	OTTHUMG00000032873	ENST00000358293.3:c.368A>G	20.37:g.58519366A>G	ENSP00000351040:p.Asp123Gly					FAM217B_ENST00000360816.3_Missense_Mutation_p.D123G|FAM217B_ENST00000469084.1_Intron	p.D123G	NM_001190826.1	NP_001177755.1	Q9NTX9	CT177_HUMAN			5	783	+			123					B3KWH1|Q9NTA3	Missense_Mutation	SNP	ENST00000358293.3	37	c.368A>G	CCDS13484.1	.	.	.	.	.	.	.	.	.	.	A	21.7	4.189124	0.78789	.	.	ENSG00000196227	ENST00000358293;ENST00000360816	T;T	0.34472	1.36;1.36	5.66	5.66	0.87406	.	0.145674	0.43579	D	0.000548	T	0.53850	0.1822	M	0.65498	2.005	0.43734	D	0.996222	D	0.63046	0.992	P	0.56865	0.808	T	0.58020	-0.7710	10	0.72032	D	0.01	-14.7846	15.8982	0.79350	1.0:0.0:0.0:0.0	.	123	Q9NTX9	CT177_HUMAN	G	123	ENSP00000351040:D123G;ENSP00000354056:D123G	ENSP00000351040:D123G	D	+	2	0	C20orf177	57952761	1.000000	0.71417	0.176000	0.23000	0.962000	0.63368	5.586000	0.67503	2.140000	0.66376	0.533000	0.62120	GAT		0.458	FAM217B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268139.1	NM_022106		27	46	0	0	0	1	0	27	46					G	58519366	A	G	58519366	3	3	409	1	0	0	0	0	1	0	0	0	2096	333	12	4	370	4	C20orf177	20	58519366	Missense_Mutation	SNP	A	TCGA-VP-A872-01A-11D-A34U-08		58519366	4506154	31	19881											
TCF20	6942	broad.mit.edu	37	chr22	42605693	42605694	+	Frame_Shift_Ins	INS	-	-	T																															ccagcgcttcctgcaggccaINStagagcctgccacaaaccag																										TCGA-VP-A872-01A-11D-A34U-08	TCGA-VP-A872-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a653276f-248d-4ffc-9198-d713cdcee5bd	b941d9f4-c0bf-4f8c-8360-2d69964f2e8a	g.chr22:42605693_42605694insT	ENST00000359486.3	-	1	5754_5755	c.5618_5619insA	c.(5617-5619)tatfs	p.Y1873fs	TCF20_ENST00000404876.1_Frame_Shift_Ins_p.Y174fs|TCF20_ENST00000335626.4_Frame_Shift_Ins_p.Y1873fs	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN	transcription factor 20 (AR1)	1873					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						CCTGCAGGCCATAGAGCCTGCC	0.446																																						ENST00000359486.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						c.(5617-5619)tggfs		transcription factor 20 (AR1)																																				SO:0001589	frameshift_variant	6942				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding	g.chr22:42605693_42605694insT	U19345	CCDS14032.1, CCDS14033.1	22q13.3	2011-02-08			ENSG00000100207	ENSG00000100207			11631	protein-coding gene	gene with protein product	"stromelysin-1 platelet-derived growth factor-responsive element binding protein"	603107				9730594, 10995766	Standard	NM_005650		Approved	AR1, SPBP	uc003bcj.1	Q9UGU0	OTTHUMG00000150920	ENST00000359486.3:c.5619dupA	22.37:g.42605694_42605694dupT	ENSP00000352463:p.Tyr1873fs					TCF20_ENST00000404876.1_Frame_Shift_Ins_p.W174fs|TCF20_ENST00000335626.4_Frame_Shift_Ins_p.W1873fs	p.W1873fs	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN			1	5754_5755	-			1873					A9JX12|O14528|Q13078|Q4V353|Q9H4M0	Frame_Shift_Ins	INS	ENST00000359486.3	37	c.5618_5619insA	CCDS14033.1																																																																																				0.446	TCF20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320531.1	NM_181492		8	195						8	195	---	---	---	---	T	42605694	-	T	42605693	7	5	409	1	0	1	1	0	0	0	0	0	15687	224	8	0	301	0	TCF20	22	42605693	Frame_Shift_Ins	INS	-	TCGA-VP-A872-01A-11D-A34U-08		42605693	8698873	32	19882											
MOV10L1	54456	broad.mit.edu	37	chr22	50555697	50555697	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagtcactaattgctgcgcgCgaaccattttcttggaaaaa	12	11	9	9	3	2	0	1	0	1	0	2	3	2	1	1	1	3	1	1	1	4	5	rs144983844		TCGA-VP-A872-01A-11D-A34U-08	TCGA-VP-A872-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a653276f-248d-4ffc-9198-d713cdcee5bd	b941d9f4-c0bf-4f8c-8360-2d69964f2e8a	g.chr22:50555697C>T	ENST00000262794.5	+	9	1454	c.1371C>T	c.(1369-1371)cgC>cgT	p.R457R	MOV10L1_ENST00000540615.1_Silent_p.R437R|MOV10L1_ENST00000395843.1_5'UTR|MOV10L1_ENST00000545383.1_Silent_p.R457R|MOV10L1_ENST00000395858.3_Silent_p.R457R	NM_018995.2	NP_061868.1	Q9BXT6	M10L1_HUMAN	Mov10 RISC complex RNA helicase like 1	457					ATP catabolic process (GO:0006200)|germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	intracellular (GO:0005622)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|magnesium ion binding (GO:0000287)|RNA binding (GO:0003723)			breast(2)|endometrium(2)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|prostate(1)|skin(9)|stomach(4)|urinary_tract(3)	67		all_cancers(38;3.31e-11)|all_epithelial(38;5.69e-10)|all_lung(38;3.73e-05)|Breast(42;0.000525)|Lung NSC(38;0.000954)|Ovarian(80;0.0367)|Lung SC(80;0.114)		LUAD - Lung adenocarcinoma(64;0.0215)|BRCA - Breast invasive adenocarcinoma(115;0.24)		TTGCTGCGCGCGAACCATTTT	0.428																																						ENST00000262794.5																			0				breast(2)|endometrium(2)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|prostate(1)|skin(9)|stomach(4)|urinary_tract(3)	67						c.(1369-1371)cgC>cgT		Mov10l1, Moloney leukemia virus 10-like 1, homolog (mouse)		C	,,	1,4405	2.1+/-5.4	0,1,2202	81	77	78		1371,1311,1371	-2	0.2	22	dbSNP_134	78	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous	MOV10L1	NM_001164104.1,NM_001164105.1,NM_018995.2	,,	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	,,	457/1166,437/1166,457/1212	50555697	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	54456				germ cell development|multicellular organismal development|spermatogenesis		ATP binding|ATP-dependent RNA helicase activity|magnesium ion binding|RNA binding	g.chr22:50555697C>T	AF285604	CCDS14084.1, CCDS54541.1, CCDS54542.1, CCDS54543.1	22q13.33	2014-07-02	2014-07-02		ENSG00000073146	ENSG00000073146			7201	protein-coding gene	gene with protein product	"cardiac helicase activated by MEF2C protein"	605794	"Mov10 (mouse)-like 1", "Mov10l1, Moloney leukemia virus 10-like 1, homolog (mouse)"			11279525	Standard	NM_018995		Approved	DJ402G11.8, DKFZp434B0717, CHAMP	uc003bjj.3	Q9BXT6	OTTHUMG00000044648	ENST00000262794.5:c.1371C>T	22.37:g.50555697C>T						MOV10L1_ENST00000395843.1_5'UTR|MOV10L1_ENST00000395858.3_Silent_p.R457R|MOV10L1_ENST00000545383.1_Silent_p.R457R|MOV10L1_ENST00000540615.1_Silent_p.R437R	p.R457R	NM_018995.2	NP_061868.1	Q9BXT6	M10L1_HUMAN		LUAD - Lung adenocarcinoma(64;0.0215)|BRCA - Breast invasive adenocarcinoma(115;0.24)	9	1454	+		all_cancers(38;3.31e-11)|all_epithelial(38;5.69e-10)|all_lung(38;3.73e-05)|Breast(42;0.000525)|Lung NSC(38;0.000954)|Ovarian(80;0.0367)|Lung SC(80;0.114)	457					A7E211|A8MXC6|B7WPP1|B7Z7R1|F5H403|Q5TGD5|Q8NBD4|Q9NXW3|Q9UFB3|Q9UGX9	Silent	SNP	ENST00000262794.5	37	c.1371C>T	CCDS14084.1																																																																																				0.428	MOV10L1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000075009.2	NM_018995		18	67	0	0	0	1	0	18	67					T	50555697	C	T	50555697	2	4	409	1	0	0	0	0	0	0	0	1	9719	755	27	1		1	MOV10L1	22	50555697	Silent	SNP	C	TCGA-VP-A872-01A-11D-A34U-08	7950004	50555697	748869	33	19883											
ARSE	415	broad.mit.edu	37	chrX	2856153	2856153	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacctgtcctggggcacctcGccgcccgccagccggaccac	5	5	11	20	4	0	0	0	0	0	0	2	1	1	1	8	3	2	1	8	3	1	1	rs377070602		TCGA-VP-A872-01A-11D-A34U-08	TCGA-VP-A872-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a653276f-248d-4ffc-9198-d713cdcee5bd	b941d9f4-c0bf-4f8c-8360-2d69964f2e8a	g.chrX:2856153G>A	ENST00000381134.3	-	9	1338	c.1272C>T	c.(1270-1272)ggC>ggT	p.G424G	ARSE_ENST00000545496.1_Silent_p.G449G|ARSE_ENST00000540563.1_Silent_p.G379G	NM_000047.2	NP_000038.2	P51690	ARSE_HUMAN	arylsulfatase E (chondrodysplasia punctata 1)	424			G -> S (in dbSNP:rs35143646). {ECO:0000269|Ref.2}.		cellular protein metabolic process (GO:0044267)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				GGGGCACCTCGCCGCCCGCCA	0.597																																						ENST00000545496.1																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						c.(1345-1347)ggC>ggT		arylsulfatase E (chondrodysplasia punctata 1)							52	55	54					X																	2856153		2199	4290	6489	SO:0001819	synonymous_variant	415				skeletal system development	Golgi stack	arylsulfatase activity|metal ion binding	g.chrX:2856153G>A	X83573	CCDS14122.1, CCDS75948.1, CCDS75949.1	Xp22.33	2013-02-14			ENSG00000157399	ENSG00000157399		"Arylsulfatase family"	719	protein-coding gene	gene with protein product		300180		CDPX, CDPX1		7720070	Standard	NM_000047		Approved		uc004crc.4	P51690	OTTHUMG00000137358	ENST00000381134.3:c.1272C>T	X.37:g.2856153G>A						ARSE_ENST00000540563.1_Silent_p.G379G|ARSE_ENST00000381134.3_Silent_p.G424G	p.G449G			P51690	ARSE_HUMAN			10	1638	-		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)	424					Q53FT2|Q53FU8	Silent	SNP	ENST00000381134.3	37	c.1347C>T	CCDS14122.1																																																																																				0.597	ARSE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055643.1	NM_000047		3	39	0	0	0	1	0	3	39					A	2856153	G	A	2856153	2	1	409	1	0	0	0	0	0	0	0	1	990	1074	38	1		1	ARSE	23	2856153	Silent	SNP	G	TCGA-VP-A872-01A-11D-A34U-08		2856153	152414407	34	19884											
OR6N1	128372	broad.mit.edu	37	chr1	158735834	158735834	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcacataggagcagaggatCagcaggaaggtggctaggat	13	6	16	6	0	1	1	1	0	0	1	1	5	1	5	0	6	3	4	0	6	3	2			TCGA-VP-A875-01A-31D-A34U-08	TCGA-VP-A875-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5f978ce-bc06-49da-99f3-b9064fdbe024	2e305204-80d3-4c7c-b416-3ceb01e18ae0	g.chr1:158735834C>A	ENST00000335094.2	-	1	658	c.639G>T	c.(637-639)ctG>ctT	p.L213L		NM_001005185.1	NP_001005185.1	Q8NGY5	OR6N1_HUMAN	olfactory receptor, family 6, subfamily N, member 1	213						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	54	all_hematologic(112;0.0378)					AGCAGAGGATCAGCAGGAAGG	0.498																																						ENST00000335094.2																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	54						c.(637-639)ctG>ctT		olfactory receptor, family 6, subfamily N, member 1							118	120	119					1																	158735834		2203	4300	6503	SO:0001819	synonymous_variant	128372				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158735834C>A	BK004199	CCDS30905.1	1q23.1	2012-08-09			ENSG00000197403	ENSG00000197403		"GPCR / Class A : Olfactory receptors"	15034	protein-coding gene	gene with protein product							Standard	NM_001005185		Approved		uc010piq.2	Q8NGY5	OTTHUMG00000022774	ENST00000335094.2:c.639G>T	1.37:g.158735834C>A							p.L213L	NM_001005185.1	NP_001005185.1	Q8NGY5	OR6N1_HUMAN			1	658	-	all_hematologic(112;0.0378)		213					Q5VUU8|Q96R35	Silent	SNP	ENST00000335094.2	37	c.639G>T	CCDS30905.1																																																																																				0.498	OR6N1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059067.1	NM_001005185		7	108	1	0	0.248553	1	0.248553	7	108					A	158735834	C	A	158735834	2	1	410	1	0	0	0	0	0	0	0	1	11206	813	29	5		5	OR6N1	1	158735834	Silent	SNP	C	TCGA-VP-A875-01A-31D-A34U-08		158735834	90514787	1	19885											
CACNA1S	779	broad.mit.edu	37	chr1	201044699	201044699	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gacggcccgccgtaggccatGatcccattgtacatcattga	9	9	10	13	3	1	2	1	2	0	0	2	3	2	2	4	2	1	2	4	2	2	4			TCGA-VP-A875-01A-31D-A34U-08	TCGA-VP-A875-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5f978ce-bc06-49da-99f3-b9064fdbe024	2e305204-80d3-4c7c-b416-3ceb01e18ae0	g.chr1:201044699G>C	ENST00000362061.3	-	13	2098	c.1872C>G	c.(1870-1872)atC>atG	p.I624M	CACNA1S_ENST00000367338.3_Missense_Mutation_p.I624M	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	624					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport (GO:0006816)|endoplasmic reticulum organization (GO:0007029)|extraocular skeletal muscle development (GO:0002074)|membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|myoblast fusion (GO:0007520)|neuromuscular junction development (GO:0007528)|skeletal muscle adaptation (GO:0043501)|skeletal muscle fiber development (GO:0048741)|skeletal system development (GO:0001501)|striated muscle contraction (GO:0006941)	cytoplasm (GO:0005737)|I band (GO:0031674)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	CGTAGGCCATGATCCCATTGT	0.547																																						ENST00000362061.3																			0				NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102						c.(1870-1872)atC>atG		calcium channel, voltage-dependent, L type, alpha 1S subunit	Magnesium Sulfate(DB00653)|Verapamil(DB00661)						206	183	191					1																	201044699		2203	4300	6503	SO:0001583	missense	779				axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity	g.chr1:201044699G>C	L33798	CCDS1407.1	1q32	2012-03-07			ENSG00000081248	ENSG00000081248		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1397	protein-coding gene	gene with protein product		114208		HOKPP, MHS5, CACNL1A3		7916735, 16382099	Standard	NM_000069		Approved	Cav1.1, hypoPP	uc001gvv.3	Q13698	OTTHUMG00000035784	ENST00000362061.3:c.1872C>G	1.37:g.201044699G>C	ENSP00000355192:p.Ile624Met					CACNA1S_ENST00000367338.3_Missense_Mutation_p.I624M	p.I624M	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN			13	2098	-			624					A4IF51|B1ALM2|Q12896|Q13934	Missense_Mutation	SNP	ENST00000362061.3	37	c.1872C>G	CCDS1407.1	.	.	.	.	.	.	.	.	.	.	G	15.69	2.906689	0.52333	.	.	ENSG00000081248	ENST00000362061;ENST00000367338	D;D	0.98329	-4.87;-4.87	4.45	3.52	0.40303	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.97455	0.9167	L	0.35793	1.09	0.40523	D	0.980858	D	0.76494	0.999	D	0.78314	0.991	D	0.96461	0.9341	10	0.66056	D	0.02	.	6.5916	0.22649	0.1526:0.0:0.6924:0.155	.	624	Q13698	CAC1S_HUMAN	M	624	ENSP00000355192:I624M;ENSP00000356307:I624M	ENSP00000355192:I624M	I	-	3	3	CACNA1S	199311322	1.000000	0.71417	1.000000	0.80357	0.924000	0.55760	2.003000	0.40844	2.194000	0.70268	0.643000	0.83706	ATC		0.547	CACNA1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087049.1	NM_000069		18	61	0	0	0	1	0	18	61					C	201044699	G	C	201044699	3	2	410	1	0	0	0	0	1	0	0	0	2547	1280	45	5	3877	5	CACNA1S	1	201044699	Missense_Mutation	SNP	G	TCGA-VP-A875-01A-31D-A34U-08	42308865	201044699	48205922	2	19886			1	45		3	3	1524	G		2.445446e-06
CACNA1S	779	broad.mit.edu	37	chr1	201046060	201046060	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gagcctacctggaagacgctGatgagggcttggggaaagtt	10	8	16	7	1	0	3	0	2	0	1	0	6	0	5	2	4	2	3	2	4	3	3			TCGA-VP-A875-01A-31D-A34U-08	TCGA-VP-A875-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5f978ce-bc06-49da-99f3-b9064fdbe024	2e305204-80d3-4c7c-b416-3ceb01e18ae0	g.chr1:201046060G>A	ENST00000362061.3	-	12	2041	c.1815C>T	c.(1813-1815)atC>atT	p.I605I	CACNA1S_ENST00000367338.3_Silent_p.I605I	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	605					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport (GO:0006816)|endoplasmic reticulum organization (GO:0007029)|extraocular skeletal muscle development (GO:0002074)|membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|myoblast fusion (GO:0007520)|neuromuscular junction development (GO:0007528)|skeletal muscle adaptation (GO:0043501)|skeletal muscle fiber development (GO:0048741)|skeletal system development (GO:0001501)|striated muscle contraction (GO:0006941)	cytoplasm (GO:0005737)|I band (GO:0031674)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	ggaagacgctgatgagggCTT	0.542																																						ENST00000362061.3																			0				NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102						c.(1813-1815)atC>atT		calcium channel, voltage-dependent, L type, alpha 1S subunit	Magnesium Sulfate(DB00653)|Verapamil(DB00661)						180	154	163					1																	201046060		2203	4300	6503	SO:0001819	synonymous_variant	779				axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity	g.chr1:201046060G>A	L33798	CCDS1407.1	1q32	2012-03-07			ENSG00000081248	ENSG00000081248		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1397	protein-coding gene	gene with protein product		114208		HOKPP, MHS5, CACNL1A3		7916735, 16382099	Standard	NM_000069		Approved	Cav1.1, hypoPP	uc001gvv.3	Q13698	OTTHUMG00000035784	ENST00000362061.3:c.1815C>T	1.37:g.201046060G>A						CACNA1S_ENST00000367338.3_Silent_p.I605I	p.I605I	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN			12	2041	-			605					A4IF51|B1ALM2|Q12896|Q13934	Silent	SNP	ENST00000362061.3	37	c.1815C>T	CCDS1407.1																																																																																				0.542	CACNA1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087049.1	NM_000069		26	34	0	0	0	1	0	26	34					A	201046060	G	A	201046060	2	1	410	1	0	0	0	0	0	0	0	1	2547	1280	45	3		3	CACNA1S	1	201046060	Silent	SNP	G	TCGA-VP-A875-01A-31D-A34U-08	1361	201046060	48204561	3	19887			1	45		3	3	1524	G		2.445446e-06
CACNA1S	779	broad.mit.edu	37	chr1	201046222	201046222	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gagcggatggagttgagcagGgatgccaccaggttgctcag	9	7	17	8	1	1	1	1	1	0	0	1	5	1	4	2	4	4	4	2	4	0	2			TCGA-VP-A875-01A-31D-A34U-08	TCGA-VP-A875-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5f978ce-bc06-49da-99f3-b9064fdbe024	2e305204-80d3-4c7c-b416-3ceb01e18ae0	g.chr1:201046222G>A	ENST00000362061.3	-	12	1879	c.1653C>T	c.(1651-1653)tcC>tcT	p.S551S	CACNA1S_ENST00000367338.3_Silent_p.S551S	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	551					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport (GO:0006816)|endoplasmic reticulum organization (GO:0007029)|extraocular skeletal muscle development (GO:0002074)|membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|myoblast fusion (GO:0007520)|neuromuscular junction development (GO:0007528)|skeletal muscle adaptation (GO:0043501)|skeletal muscle fiber development (GO:0048741)|skeletal system development (GO:0001501)|striated muscle contraction (GO:0006941)	cytoplasm (GO:0005737)|I band (GO:0031674)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	AGTTGAGCAGGGATGCCACCA	0.607																																						ENST00000362061.3																			0				NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102						c.(1651-1653)tcC>tcT		calcium channel, voltage-dependent, L type, alpha 1S subunit	Magnesium Sulfate(DB00653)|Verapamil(DB00661)						105	97	99					1																	201046222		2203	4300	6503	SO:0001819	synonymous_variant	779				axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity	g.chr1:201046222G>A	L33798	CCDS1407.1	1q32	2012-03-07			ENSG00000081248	ENSG00000081248		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1397	protein-coding gene	gene with protein product		114208		HOKPP, MHS5, CACNL1A3		7916735, 16382099	Standard	NM_000069		Approved	Cav1.1, hypoPP	uc001gvv.3	Q13698	OTTHUMG00000035784	ENST00000362061.3:c.1653C>T	1.37:g.201046222G>A						CACNA1S_ENST00000367338.3_Silent_p.S551S	p.S551S	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN			12	1879	-			551					A4IF51|B1ALM2|Q12896|Q13934	Silent	SNP	ENST00000362061.3	37	c.1653C>T	CCDS1407.1																																																																																				0.607	CACNA1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087049.1	NM_000069		13	33	0	0	0	1	0	13	33					A	201046222	G	A	201046222	2	1	410	1	0	0	0	0	0	0	0	1	2547	1219	43	3		3	CACNA1S	1	201046222	Silent	SNP	G	TCGA-VP-A875-01A-31D-A34U-08	162	201046222	48204399	4	19888			1	45		3	3	1524	G		2.445446e-06
ABHD1	84696	broad.mit.edu	37	chr2	27351917	27351917	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacccagcccattgtgctgcTgcttcctggcatcactggca	6	11	9	15	0	1	0	1	0	0	0	2	0	2	0	3	2	5	5	3	2	1	3			TCGA-VP-A875-01A-31D-A34U-08	TCGA-VP-A875-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5f978ce-bc06-49da-99f3-b9064fdbe024	2e305204-80d3-4c7c-b416-3ceb01e18ae0	g.chr2:27351917T>G	ENST00000316470.4	+	3	494	c.380T>G	c.(379-381)cTg>cGg	p.L127R		NM_032604.3	NP_115993	Q96SE0	ABHD1_HUMAN	abhydrolase domain containing 1	127						integral component of membrane (GO:0016021)	carboxylic ester hydrolase activity (GO:0052689)			endometrium(1)|kidney(1)|lung(3)	5	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ATTGTGCTGCTGCTTCCTGGC	0.567																																						ENST00000316470.4																			0				endometrium(1)|kidney(1)|lung(3)	5						c.(379-381)cTg>cGg		abhydrolase domain containing 1							86	79	81					2																	27351917		2203	4300	6503	SO:0001583	missense	84696					integral to membrane	carboxylesterase activity	g.chr2:27351917T>G	AK093447	CCDS1736.1	2p23.3	2011-01-21			ENSG00000143994	ENSG00000143994		"Abhydrolase domain containing"	17553	protein-coding gene	gene with protein product		612195				11922611	Standard	NM_032604		Approved	LABH1, FLJ36128	uc002rit.3	Q96SE0	OTTHUMG00000097072	ENST00000316470.4:c.380T>G	2.37:g.27351917T>G	ENSP00000326491:p.Leu127Arg						p.L127R	NM_032604.3	NP_115993.3	Q96SE0	ABHD1_HUMAN			3	494	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		127					B3KSF6|E9PDR9|Q05BY3|Q53SZ1|Q8IXQ7	Missense_Mutation	SNP	ENST00000316470.4	37	c.380T>G	CCDS1736.1	.	.	.	.	.	.	.	.	.	.	T	22.5	4.302013	0.81136	.	.	ENSG00000143994	ENST00000316470;ENST00000416071	T;T	0.75589	-0.95;-0.95	4.82	4.82	0.62117	.	0.206543	0.33235	N	0.005125	D	0.85881	0.5800	M	0.85859	2.78	0.38540	D	0.949194	D	0.76494	0.999	D	0.79108	0.992	D	0.88767	0.3261	10	0.87932	D	0	-5.7474	10.6989	0.45915	0.0:0.0:0.0:1.0	.	127	Q96SE0	ABHD1_HUMAN	R	127;64	ENSP00000326491:L127R;ENSP00000397522:L64R	ENSP00000326491:L127R	L	+	2	0	ABHD1	27205421	1.000000	0.71417	0.796000	0.32109	0.976000	0.68499	4.850000	0.62889	2.019000	0.59389	0.459000	0.35465	CTG		0.567	ABHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214188.1	NM_032604		11	28	0	0	0	1	0	11	28					G	27351917	T	G	27351917	3	3	410	1	0	0	0	0	1	0	0	0	73	1580	55	5	390	5	ABHD1	2	27351917	Missense_Mutation	SNP	T	TCGA-VP-A875-01A-31D-A34U-08		27351917	215847456	5	19889											
SCN1A	6323	broad.mit.edu	37	chr2	166848111	166848111	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aggattggaagccatgaatcGctcttccatctgtattcgta	10	13	9	9	2	2	1	0	1	2	0	5	3	3	3	2	2	1	3	2	2	4	5			TCGA-VP-A875-01A-31D-A34U-08	TCGA-VP-A875-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5f978ce-bc06-49da-99f3-b9064fdbe024	2e305204-80d3-4c7c-b416-3ceb01e18ae0	g.chr2:166848111G>A	ENST00000303395.4	-	26	5673	c.5674C>T	c.(5674-5676)Cga>Tga	p.R1892*	SCN1A_ENST00000409050.1_Nonsense_Mutation_p.R1864*|SCN1A_ENST00000375405.3_Nonsense_Mutation_p.R1881*|SCN1A_ENST00000423058.2_Nonsense_Mutation_p.R1892*|AC010127.3_ENST00000595647.1_RNA|AC010127.3_ENST00000597623.1_RNA			P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	1892					adult walking behavior (GO:0007628)|membrane depolarization during action potential (GO:0086010)|neuromuscular process controlling posture (GO:0050884)|neuronal action potential (GO:0019228)|neuronal action potential propagation (GO:0019227)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon initial segment (GO:0043194)|intercalated disc (GO:0014704)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)|Z disc (GO:0030018)	voltage-gated sodium channel activity (GO:0005248)			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Dronedarone(DB04855)|Nitrazepam(DB01595)|Permethrin(DB04930)|Phenacemide(DB01121)|Phenazopyridine(DB01438)|Phenytoin(DB00252)|Topiramate(DB00273)|Valproic Acid(DB00313)|Zonisamide(DB00909)	GCCATGAATCGCTCTTCCATC	0.438																																						ENST00000423058.2																			0				NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200	GRCh37	CM024313	SCN1A	M		c.(5674-5676)Cga>Tga		sodium channel, voltage-gated, type I, alpha subunit	Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)						97	90	92					2																	166848111		2203	4300	6503	SO:0001587	stop_gained	6323					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:166848111G>A	AB093548	CCDS33316.1, CCDS54413.1, CCDS54414.1	2q24.3	2014-09-17	2007-01-23		ENSG00000144285	ENSG00000144285		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10585	protein-coding gene	gene with protein product		182389	"febrile convulsions 3"	SCN1, FEB3		8062593, 16382098, 11823106	Standard	NM_006920		Approved	Nav1.1, GEFSP2, HBSCI, NAC1, SMEI	uc021vsb.1	P35498	OTTHUMG00000044173	ENST00000303395.4:c.5674C>T	2.37:g.166848111G>A	ENSP00000303540:p.Arg1892*					SCN1A_ENST00000409050.1_Nonsense_Mutation_p.R1864*|AC010127.3_ENST00000597623.1_RNA|SCN1A_ENST00000303395.4_Nonsense_Mutation_p.R1892*|SCN1A_ENST00000375405.3_Nonsense_Mutation_p.R1881*|AC010127.3_ENST00000595647.1_RNA	p.R1892*	NM_001165963.1|NM_001202435.1	NP_001159435.1|NP_001189364.1	P35498	SCN1A_HUMAN			26	5691	-			1892					E9PG49|Q16172|Q585T7|Q8IUJ6|Q96LA3|Q9C008	Nonsense_Mutation	SNP	ENST00000303395.4	37	c.5674C>T	CCDS54413.1	.	.	.	.	.	.	.	.	.	.	G	42	9.372244	0.99151	.	.	ENSG00000144285	ENST00000423058;ENST00000303395;ENST00000375405;ENST00000409050	.	.	.	5.6	1.34	0.21922	.	0.000000	0.52532	D	0.000064	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.5002	0.75691	0.0:0.0:0.54:0.46	.	.	.	.	X	1892;1892;1881;1864	.	ENSP00000303540:R1892X	R	-	1	2	SCN1A	166556357	1.000000	0.71417	0.952000	0.39060	0.997000	0.91878	3.343000	0.52167	0.341000	0.23771	0.650000	0.86243	CGA		0.438	SCN1A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102661.1	NM_006920		10	51	0	0	0	1	0	10	51					A	166848111	G	A	166848111	4	1	410	1	0	0	0	0	0	1	0	0	13914	1095	38	1	359	1	SCN1A	2	166848111	Nonsense_Mutation	SNP	G	TCGA-VP-A875-01A-31D-A34U-08	139496194	166848111	76351262	6	19890											
KIAA1486	57624	broad.mit.edu	37	chr2	226447087	226447087	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccatgcccccccaaggggctGctttgcgacatccctccgcc	5	7	9	20	2	0	0	0	0	0	0	2	1	2	0	7	2	3	2	7	2	1	1			TCGA-VP-A875-01A-31D-A34U-08	TCGA-VP-A875-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5f978ce-bc06-49da-99f3-b9064fdbe024	2e305204-80d3-4c7c-b416-3ceb01e18ae0	g.chr2:226447087G>T	ENST00000272907.6	+	4	1367	c.954G>T	c.(952-954)ctG>ctT	p.L318L	NYAP2_ENST00000409269.2_Intron	NM_020864.1	NP_065915.1	Q9P242	NYAP2_HUMAN	neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2	318	Pro-rich.				neuron projection morphogenesis (GO:0048812)|phosphatidylinositol 3-kinase signaling (GO:0014065)												CCAAGGGGCTGCTTTGCGACA	0.632																																						ENST00000272907.6																			0											c.(952-954)ctG>ctT		neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2							51	54	53					2																	226447087		1995	4152	6147	SO:0001819	synonymous_variant	57624							g.chr2:226447087G>T	AB040919	CCDS46529.1	2q36.3	2011-11-30	2011-11-30	2011-11-30	ENSG00000144460	ENSG00000144460			29291	protein-coding gene	gene with protein product		615478	"KIAA1486"	KIAA1486		10819331, 21946561	Standard	NM_020864		Approved		uc002voe.2	Q9P242	OTTHUMG00000153450	ENST00000272907.6:c.954G>T	2.37:g.226447087G>T						NYAP2_ENST00000409269.2_Intron	p.L318L	NM_020864.1	NP_065915.1	Q9P242	K1486_HUMAN			4	1367	+			318			Pro-rich.		A2RRN4|Q96NL2	Silent	SNP	ENST00000272907.6	37	c.954G>T	CCDS46529.1																																																																																				0.632	NYAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331258.1	NM_020864		9	32	1	0	0.00829132	1	0.00855042	9	32					T	226447087	G	T	226447087	2	4	410	1	0	0	0	0	0	0	0	1	8237	1306	46	5		5	KIAA1486	2	226447087	Silent	SNP	G	TCGA-VP-A875-01A-31D-A34U-08	59598976	226447087	16752286	7	19891											
NT5DC2	64943	broad.mit.edu	37	chr3	52559262	52559262	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtggtccccgaagtagagcAcgcgggggccacgccattcc	7	5	15	14	4	0	1	0	0	0	1	2	2	2	1	5	4	1	2	5	4	2	2			TCGA-VP-A875-01A-31D-A34U-08	TCGA-VP-A875-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5f978ce-bc06-49da-99f3-b9064fdbe024	2e305204-80d3-4c7c-b416-3ceb01e18ae0	g.chr3:52559262A>T	ENST00000307076.4	-	11	1458	c.1058T>A	c.(1057-1059)gTg>gAg	p.V353E	NT5DC2_ENST00000422318.2_Missense_Mutation_p.V390E|NT5DC2_ENST00000459839.1_Missense_Mutation_p.V365E|NT5DC2_ENST00000307092.4_Missense_Mutation_p.V294E	NM_022908.2	NP_075059.1	Q9H857	NT5D2_HUMAN	5'-nucleotidase domain containing 2	353							hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			endometrium(1)|lung(3)|prostate(1)|stomach(1)	6				BRCA - Breast invasive adenocarcinoma(193;1.7e-05)|Kidney(197;0.00177)|KIRC - Kidney renal clear cell carcinoma(197;0.002)|OV - Ovarian serous cystadenocarcinoma(275;0.0476)		GAAGTAGAGCACGCGGGGGCC	0.652																																						ENST00000307076.4																			0				endometrium(1)|lung(3)|prostate(1)|stomach(1)	6						c.(1057-1059)gTg>gAg		5'-nucleotidase domain containing 2							48	44	45					3																	52559262		2200	4299	6499	SO:0001583	missense	64943						hydrolase activity|metal ion binding	g.chr3:52559262A>T	AF131781	CCDS2858.1, CCDS46843.1	3p21.1	2006-02-03			ENSG00000168268	ENSG00000168268			25717	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_022908		Approved	FLJ12442	uc003den.3	Q9H857	OTTHUMG00000158626	ENST00000307076.4:c.1058T>A	3.37:g.52559262A>T	ENSP00000302468:p.Val353Glu					NT5DC2_ENST00000459839.1_Missense_Mutation_p.V365E|NT5DC2_ENST00000307092.4_Missense_Mutation_p.V294E|NT5DC2_ENST00000422318.2_Missense_Mutation_p.V390E	p.V353E	NM_022908.2	NP_075059.1	Q9H857	NT5D2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;1.7e-05)|Kidney(197;0.00177)|KIRC - Kidney renal clear cell carcinoma(197;0.002)|OV - Ovarian serous cystadenocarcinoma(275;0.0476)	11	1458	-			353					C9JTZ6|E9PAL9|O95888|Q96C80|Q9H9Z8	Missense_Mutation	SNP	ENST00000307076.4	37	c.1058T>A	CCDS2858.1	.	.	.	.	.	.	.	.	.	.	A	33	5.276368	0.95459	.	.	ENSG00000168268	ENST00000307092;ENST00000463947;ENST00000307076;ENST00000422318;ENST00000459839	T;T;T;T;T	0.33216	1.42;1.42;1.42;1.42;1.42	5.13	5.13	0.70059	HAD-like domain (2);	0.000000	0.85682	D	0.000000	T	0.64907	0.2641	M	0.93062	3.375	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.997;0.998	T	0.75150	-0.3419	10	0.87932	D	0	-34.195	14.9313	0.70916	1.0:0.0:0.0:0.0	.	365;353;390	C9JTZ6;Q9H857;E9PAL9	.;NT5D2_HUMAN;.	E	294;67;353;390;365	ENSP00000306017:V294E;ENSP00000418780:V67E;ENSP00000302468:V353E;ENSP00000406933:V390E;ENSP00000419547:V365E	ENSP00000302468:V353E	V	-	2	0	NT5DC2	52534302	1.000000	0.71417	0.989000	0.46669	0.980000	0.70556	9.306000	0.96204	1.933000	0.56026	0.402000	0.26972	GTG		0.652	NT5DC2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000351509.1	NM_022908		4	28	0	0	0	1	0	4	28					T	52559262	A	T	52559262	3	4	410	1	0	0	0	0	1	0	0	0	10691	159	6	5	520	5	NT5DC2	3	52559262	Missense_Mutation	SNP	A	TCGA-VP-A875-01A-31D-A34U-08		52559262	145463168	8	19892											
IMPG2	50939	broad.mit.edu	37	chr3	101023020	101023020	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aagcttctatgttccacagaTtcactaaaatttgtgcccat	12	14	5	10	0	2	1	1	0	1	1	3	1	3	1	2	0	2	2	2	0	4	6			TCGA-VP-A875-01A-31D-A34U-08	TCGA-VP-A875-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5f978ce-bc06-49da-99f3-b9064fdbe024	2e305204-80d3-4c7c-b416-3ceb01e18ae0	g.chr3:101023020T>C	ENST00000193391.7	-	3	658	c.471A>G	c.(469-471)gaA>gaG	p.E157E		NM_016247.3	NP_057331.2	Q9BZV3	IMPG2_HUMAN	interphotoreceptor matrix proteoglycan 2	157					visual perception (GO:0007601)	integral component of membrane (GO:0016021)|proteinaceous extracellular matrix (GO:0005578)|receptor complex (GO:0043235)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|hyaluronic acid binding (GO:0005540)			NS(1)|breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(14)|lung(32)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64					Hyaluronan(DB08818)	GTTCCACAGATTCACTAAAAT	0.408																																						ENST00000193391.7																			0				NS(1)|breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(14)|lung(32)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						c.(469-471)gaA>gaG		interphotoreceptor matrix proteoglycan 2							162	157	158					3																	101023020		2203	4300	6503	SO:0001819	synonymous_variant	50939				visual perception	integral to membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|heparin binding|hyaluronic acid binding|receptor activity	g.chr3:101023020T>C	AF173155	CCDS2940.1	3q12.2-q12.3	2014-01-28			ENSG00000081148	ENSG00000081148			18362	protein-coding gene	gene with protein product		607056				10542133	Standard	NM_016247		Approved	IPM200, RP56	uc003duq.2	Q9BZV3	OTTHUMG00000159091	ENST00000193391.7:c.471A>G	3.37:g.101023020T>C							p.E157E	NM_016247.3	NP_057331.2	Q9BZV3	IMPG2_HUMAN			3	658	-			157					A8MWT5|Q9UKD4|Q9UKK5	Silent	SNP	ENST00000193391.7	37	c.471A>G	CCDS2940.1																																																																																				0.408	IMPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353256.3			15	76	0	0	0	1	0	15	76					C	101023020	T	C	101023020	2	2	410	1	0	0	0	0	0	0	0	1	7729	1490	52	4		4	IMPG2	3	101023020	Silent	SNP	T	TCGA-VP-A875-01A-31D-A34U-08	48463758	101023020	96999410	9	19893											
FNDC3B	64778	broad.mit.edu	37	chr3	172096070	172096070	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cttcttctaggtttatttcaAtctacagaggacccagccac	10	13	6	12	0	4	1	1	0	3	1	4	2	4	2	2	2	2	1	2	2	4	7			TCGA-VP-A875-01A-31D-A34U-08	TCGA-VP-A875-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5f978ce-bc06-49da-99f3-b9064fdbe024	2e305204-80d3-4c7c-b416-3ceb01e18ae0	g.chr3:172096070A>G	ENST00000336824.4	+	24	3118	c.3019A>G	c.(3019-3021)Atc>Gtc	p.I1007V	FNDC3B_ENST00000416957.1_Missense_Mutation_p.I1007V|FNDC3B_ENST00000415807.2_Missense_Mutation_p.I1007V	NM_001135095.1	NP_001128567.1	Q53EP0	FND3B_HUMAN	fibronectin type III domain containing 3B	1007	Fibronectin type-III 8. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell migration (GO:0016477)|negative regulation of osteoblast differentiation (GO:0045668)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of fibroblast proliferation (GO:0048146)|substrate adhesion-dependent cell spreading (GO:0034446)|Type II pneumocyte differentiation (GO:0060510)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	poly(A) RNA binding (GO:0044822)			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(26)|ovary(3)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	69	all_cancers(22;1.01e-18)|Ovarian(172;0.00167)|Breast(254;0.165)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)	GBM - Glioblastoma multiforme(1;0.0494)		GTTTATTTCAATCTACAGAGG	0.453																																						ENST00000336824.4																			0				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(26)|ovary(3)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	69						c.(3019-3021)Atc>Gtc		fibronectin type III domain containing 3B							72	68	69					3																	172096070		2203	4300	6503	SO:0001583	missense	64778					endoplasmic reticulum|integral to membrane		g.chr3:172096070A>G	AF543840	CCDS3217.1	3q26.31	2013-11-06			ENSG00000075420	ENSG00000075420		"Fibronectin type III domain containing"	24670	protein-coding gene	gene with protein product		611909				15527760	Standard	NM_022763		Approved	FAD104, DKFZp762K137, FLJ23399, PRO4979, YVTM2421	uc003fhy.3	Q53EP0	OTTHUMG00000156761	ENST00000336824.4:c.3019A>G	3.37:g.172096070A>G	ENSP00000338523:p.Ile1007Val					FNDC3B_ENST00000416957.1_Missense_Mutation_p.I1007V|FNDC3B_ENST00000415807.2_Missense_Mutation_p.I1007V	p.I1007V	NM_001135095.1	NP_001128567.1	Q53EP0	FND3B_HUMAN	LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)	GBM - Glioblastoma multiforme(1;0.0494)	24	3118	+	all_cancers(22;1.01e-18)|Ovarian(172;0.00167)|Breast(254;0.165)		1007			Fibronectin type-III 8.		B2RB36|B3KXR8|D3DNQ7|Q5U5T8|Q6PIJ3|Q6UXG1|Q6UXZ5|Q8IXB2|Q8NBU7|Q96D78|Q9H5I7|Q9NSQ8	Missense_Mutation	SNP	ENST00000336824.4	37	c.3019A>G	CCDS3217.1	.	.	.	.	.	.	.	.	.	.	A	14.74	2.625844	0.46840	.	.	ENSG00000075420	ENST00000415807;ENST00000336824;ENST00000416957	T;T;T	0.56611	0.45;0.45;0.45	5.36	5.36	0.76844	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.044860	0.85682	D	0.000000	T	0.37183	0.0994	N	0.25144	0.715	0.80722	D	1	B	0.16166	0.016	B	0.25291	0.059	T	0.22556	-1.0213	10	0.02654	T	1	-21.5281	15.3525	0.74399	1.0:0.0:0.0:0.0	.	1007	Q53EP0	FND3B_HUMAN	V	1007	ENSP00000411242:I1007V;ENSP00000338523:I1007V;ENSP00000389094:I1007V	ENSP00000338523:I1007V	I	+	1	0	FNDC3B	173578764	1.000000	0.71417	0.989000	0.46669	0.916000	0.54674	5.888000	0.69758	2.028000	0.59812	0.533000	0.62120	ATC		0.453	FNDC3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345618.2	NM_022763		19	23	0	0	0	1	0	19	23					G	172096070	A	G	172096070	3	3	410	1	0	0	0	0	1	0	0	0	5970	101	4	4	3109	4	FNDC3B	3	172096070	Missense_Mutation	SNP	A	TCGA-VP-A875-01A-31D-A34U-08	71073050	172096070	25926360	10	19894											
PEX5L	51555	broad.mit.edu	37	chr3	179605498	179605498	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	actggccttgctattgcttcCgatttggtttcacagagaaa	9	14	9	9	1	1	1	1	0	0	1	2	3	2	1	2	2	2	3	2	2	2	6			TCGA-VP-A875-01A-31D-A34U-08	TCGA-VP-A875-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5f978ce-bc06-49da-99f3-b9064fdbe024	2e305204-80d3-4c7c-b416-3ceb01e18ae0	g.chr3:179605498C>T	ENST00000467460.1	-	4	603	c.273G>A	c.(271-273)tcG>tcA	p.S91S	PEX5L_ENST00000392649.3_Silent_p.S48S|PEX5L_ENST00000476138.1_Silent_p.S48S|PEX5L_ENST00000485199.1_Silent_p.S56S|PEX5L_ENST00000263962.8_Silent_p.S89S|PEX5L_ENST00000472994.1_Silent_p.S32S|PEX5L_ENST00000464614.1_Silent_p.S48S|PEX5L_ENST00000465751.1_Silent_p.S67S|PEX5L_ENST00000467440.2_5'UTR|PEX5L_ENST00000468741.1_5'UTR	NM_001256751.1|NM_016559.2	NP_001243680.1|NP_057643.1	Q8IYB4	PEX5R_HUMAN	peroxisomal biogenesis factor 5-like	91					maintenance of protein location (GO:0045185)|protein import into peroxisome matrix (GO:0016558)|protein import into peroxisome matrix, docking (GO:0016560)|regulation of cAMP-mediated signaling (GO:0043949)|regulation of membrane potential (GO:0042391)	cytosol (GO:0005829)|dendrite (GO:0030425)|peroxisomal membrane (GO:0005778)|receptor complex (GO:0043235)	peroxisome matrix targeting signal-1 binding (GO:0005052)|peroxisome targeting sequence binding (GO:0000268)|small GTPase binding (GO:0031267)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	all_cancers(143;3.94e-14)|Ovarian(172;0.0338)|Breast(254;0.183)		OV - Ovarian serous cystadenocarcinoma(80;1.75e-26)|GBM - Glioblastoma multiforme(14;0.000518)			CTATTGCTTCCGATTTGGTTT	0.413																																						ENST00000467460.1																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						c.(271-273)tcG>tcA		peroxisomal biogenesis factor 5-like							221	220	220					3																	179605498		2203	4300	6503	SO:0001819	synonymous_variant	51555				protein import into peroxisome matrix|regulation of cAMP-mediated signaling	cytosol|peroxisomal membrane	peroxisome matrix targeting signal-1 binding	g.chr3:179605498C>T	AJ245503	CCDS3236.1, CCDS58861.1, CCDS58862.1, CCDS58863.1, CCDS58864.1, CCDS58865.1, CCDS58866.1, CCDS58867.1	3q27.1	2013-01-10			ENSG00000114757	ENSG00000114757		"Tetratricopeptide (TTC) repeat domain containing"	30024	protein-coding gene	gene with protein product		611058				11463335	Standard	NM_016559		Approved	PEX5R, PXR2	uc003fki.2	Q8IYB4	OTTHUMG00000157363	ENST00000467460.1:c.273G>A	3.37:g.179605498C>T						PEX5L_ENST00000464614.1_Silent_p.S48S|PEX5L_ENST00000465751.1_Silent_p.S67S|PEX5L_ENST00000392649.3_Silent_p.S48S|PEX5L_ENST00000263962.8_Silent_p.S89S|PEX5L_ENST00000485199.1_Silent_p.S56S|PEX5L_ENST00000476138.1_Silent_p.S48S|PEX5L_ENST00000472994.1_Silent_p.S32S|PEX5L_ENST00000468741.1_5'UTR|PEX5L_ENST00000467440.2_5'UTR	p.S91S	NM_001256751.1|NM_016559.2	NP_001243680.1|NP_057643.1	Q8IYB4	PEX5R_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1.75e-26)|GBM - Glioblastoma multiforme(14;0.000518)		4	603	-	all_cancers(143;3.94e-14)|Ovarian(172;0.0338)|Breast(254;0.183)		91					B7Z2A5|B7Z305|B7Z318|B7Z5Z5|B7Z8P2|E7EUV8|E7EUZ0|E9PEC1|E9PH97|Q9NQD1|Q9P2U3|Q9P2U4	Silent	SNP	ENST00000467460.1	37	c.273G>A	CCDS3236.1																																																																																				0.413	PEX5L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348577.1	NM_016559		22	80	0	0	0	1	0	22	80					T	179605498	C	T	179605498	2	4	410	1	0	0	0	0	0	0	0	1	11749	639	23	2		2	PEX5L	3	179605498	Silent	SNP	C	TCGA-VP-A875-01A-31D-A34U-08	7509428	179605498	18416932	11	19895											
F11	2160	broad.mit.edu	37	chr4	187201491	187201491	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgcaccaatgccgtccgctGccagttttttacctataccc	7	12	7	15	2	0	0	0	0	0	0	1	0	1	0	6	0	5	3	6	0	4	5			TCGA-VP-A875-01A-31D-A34U-08	TCGA-VP-A875-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5f978ce-bc06-49da-99f3-b9064fdbe024	2e305204-80d3-4c7c-b416-3ceb01e18ae0	g.chr4:187201491G>A	ENST00000403665.2	+	9	1332	c.980G>A	c.(979-981)tGc>tAc	p.C327Y	F11_ENST00000264692.4_Missense_Mutation_p.C275Y	NM_000128.3	NP_000119.1	P03951	FA11_HUMAN	coagulation factor XI	327	Apple 4. {ECO:0000255|PROSITE- ProRule:PRU00315}.				blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|plasminogen activation (GO:0031639)|positive regulation of fibrinolysis (GO:0051919)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|serine-type aminopeptidase activity (GO:0070009)|serine-type endopeptidase activity (GO:0004252)			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(15)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	32		all_cancers(14;6.2e-52)|all_epithelial(14;1.62e-38)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Colorectal(36;0.0161)|all_neural(102;0.202)		OV - Ovarian serous cystadenocarcinoma(60;2.13e-11)|BRCA - Breast invasive adenocarcinoma(30;4.59e-06)|GBM - Glioblastoma multiforme(59;0.000149)|STAD - Stomach adenocarcinoma(60;0.000314)|LUSC - Lung squamous cell carcinoma(40;0.00112)|READ - Rectum adenocarcinoma(43;0.176)	Coagulation Factor IX(DB00100)	GCCGTCCGCTGCCAGTTTTTT	0.498																																						ENST00000264692.4																			0				NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(15)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	32						c.(823-825)tGc>tAc		coagulation factor XI	Coagulation Factor IX(DB00100)						123	121	122					4																	187201491		2203	4300	6503	SO:0001583	missense	2160				blood coagulation, intrinsic pathway|plasminogen activation|positive regulation of fibrinolysis	extracellular space|plasma membrane	heparin binding|serine-type endopeptidase activity	g.chr4:187201491G>A	M13142	CCDS3847.1	4q35	2008-08-01	2008-08-01		ENSG00000088926	ENSG00000088926	3.4.21.27		3529	protein-coding gene	gene with protein product	"plasma thromboplastin antecedent"	264900					Standard	NM_000128		Approved	FXI	uc003iza.1	P03951	OTTHUMG00000150311	ENST00000403665.2:c.980G>A	4.37:g.187201491G>A	ENSP00000384957:p.Cys327Tyr					F11_ENST00000403665.2_Missense_Mutation_p.C327Y	p.C275Y			P03951	FA11_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;2.13e-11)|BRCA - Breast invasive adenocarcinoma(30;4.59e-06)|GBM - Glioblastoma multiforme(59;0.000149)|STAD - Stomach adenocarcinoma(60;0.000314)|LUSC - Lung squamous cell carcinoma(40;0.00112)|READ - Rectum adenocarcinoma(43;0.176)	9	1157	+		all_cancers(14;6.2e-52)|all_epithelial(14;1.62e-38)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Colorectal(36;0.0161)|all_neural(102;0.202)	327			Apple 3.		D3DP64|Q4W5C2|Q9Y495	Missense_Mutation	SNP	ENST00000403665.2	37	c.824G>A	CCDS3847.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.83|19.83	3.900828|3.900828	0.72754|0.72754	.|.	.|.	ENSG00000088926|ENSG00000088926	ENST00000452239|ENST00000403665;ENST00000264692	.|D;D	.|0.98512	.|-4.97;-4.97	5.55|5.55	5.55|5.55	0.83447|0.83447	.|Apple domain (2);PAN-1 domain (1);Apple-like (1);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.99184|0.99184	0.9717|0.9717	M|M	0.89968|0.89968	3.075|3.075	0.58432|0.58432	D|D	0.999991|0.999991	.|D	.|0.89917	.|1.0	.|D	.|0.97110	.|1.0	D|D	0.99368|0.99368	1.0919|1.0919	5|10	.|0.72032	.|D	.|0.01	.|.	19.9413|19.9413	0.97163|0.97163	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|327	.|P03951	.|FA11_HUMAN	T|Y	143|327;275	.|ENSP00000384957:C327Y;ENSP00000264692:C275Y	.|ENSP00000264692:C275Y	A|C	+|+	1|2	0|0	F11|F11	187438485|187438485	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.743000|0.743000	0.42351|0.42351	6.354000|6.354000	0.73036|0.73036	2.779000|2.779000	0.95612|0.95612	0.650000|0.650000	0.86243|0.86243	GCC|TGC		0.498	F11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317519.4			12	101	0	0	0	1	0	12	101					A	187201491	G	A	187201491	3	1	410	1	0	0	0	0	1	0	0	0	5337	1319	46	3	1010	3	F11	4	187201491	Missense_Mutation	SNP	G	TCGA-VP-A875-01A-31D-A34U-08		187201491	3952785	12	19896											
SLC25A46	91137	broad.mit.edu	37	chr5	110097084	110097084	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagttattcagaagtttgtcCtactaattctaaagagaaag	15	13	7	6	0	2	2	1	0	1	2	3	3	3	2	1	0	1	2	1	0	7	7			TCGA-VP-A875-01A-31D-A34U-08	TCGA-VP-A875-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5f978ce-bc06-49da-99f3-b9064fdbe024	2e305204-80d3-4c7c-b416-3ceb01e18ae0	g.chr5:110097084C>T	ENST00000355943.3	+	8	985	c.859C>T	c.(859-861)Cta>Tta	p.L287L	SLC25A46_ENST00000513706.1_3'UTR|SLC25A46_ENST00000513807.1_Silent_p.L125L|SLC25A46_ENST00000509442.2_Silent_p.L196L|SLC25A46_ENST00000447245.2_Intron|SLC25A46_ENST00000504098.1_Silent_p.L141L|SLC25A46_ENST00000509432.1_Silent_p.L74L	NM_138773.1	NP_620128.1	Q96AG3	S2546_HUMAN	solute carrier family 25, member 46	287					transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|skin(1)	10		all_cancers(142;0.00203)|all_epithelial(76;4.52e-05)|Prostate(80;0.0115)|Colorectal(57;0.0676)|Ovarian(225;0.156)		OV - Ovarian serous cystadenocarcinoma(64;2.58e-09)|Epithelial(69;7.29e-08)|all cancers(49;9.35e-06)|COAD - Colon adenocarcinoma(37;0.211)		GAAGTTTGTCCTACTAATTCT	0.408																																						ENST00000355943.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|skin(1)	10						c.(859-861)Cta>Tta		solute carrier family 25, member 46							147	147	147					5																	110097084		2202	4300	6502	SO:0001819	synonymous_variant	91137				transport	integral to membrane|mitochondrial inner membrane		g.chr5:110097084C>T	BC017169	CCDS4100.1	5q22.1	2013-05-22			ENSG00000164209	ENSG00000164209		"Solute carriers"	25198	protein-coding gene	gene with protein product		610826				1651562, 1651563, 16949250	Standard	NM_138773		Approved		uc003koz.3	Q96AG3	OTTHUMG00000128794	ENST00000355943.3:c.859C>T	5.37:g.110097084C>T						SLC25A46_ENST00000513807.1_Silent_p.L125L|SLC25A46_ENST00000509442.2_Silent_p.L196L|SLC25A46_ENST00000509432.1_Silent_p.L74L|SLC25A46_ENST00000447245.2_Intron|SLC25A46_ENST00000504098.1_Silent_p.L141L|SLC25A46_ENST00000513706.1_3'UTR	p.L287L	NM_138773.1	NP_620128.1	Q96AG3	S2546_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;2.58e-09)|Epithelial(69;7.29e-08)|all cancers(49;9.35e-06)|COAD - Colon adenocarcinoma(37;0.211)	8	985	+		all_cancers(142;0.00203)|all_epithelial(76;4.52e-05)|Prostate(80;0.0115)|Colorectal(57;0.0676)|Ovarian(225;0.156)	287					A8K2F2|B3KRE6|B4DTA3|D3DSZ6|D6R9W7|Q04197	Silent	SNP	ENST00000355943.3	37	c.859C>T	CCDS4100.1																																																																																				0.408	SLC25A46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250721.5	NM_138773		14	78	0	0	0	1	0	14	78					T	110097084	C	T	110097084	2	4	410	1	0	0	0	0	0	0	0	1	14511	680	24	3		3	SLC25A46	5	110097084	Silent	SNP	C	TCGA-VP-A875-01A-31D-A34U-08		110097084	70818176	13	19897											
CXXC5	51523	broad.mit.edu	37	chr5	139060727	139060727	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagccctcaatggccagtccGacttcccctacctgggcgct	7	8	9	17	2	1	0	1	0	0	0	3	1	3	0	6	2	2	1	6	2	3	2			TCGA-VP-A875-01A-31D-A34U-08	TCGA-VP-A875-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5f978ce-bc06-49da-99f3-b9064fdbe024	2e305204-80d3-4c7c-b416-3ceb01e18ae0	g.chr5:139060727G>T	ENST00000302517.3	+	2	1333	c.619G>T	c.(619-621)Gac>Tac	p.D207Y	CXXC5_ENST00000511048.1_Missense_Mutation_p.D207Y|CXXC5_ENST00000515038.1_3'UTR	NM_016463.7	NP_057547.5	Q7LFL8	CXXC5_HUMAN	CXXC finger protein 5	207					positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)	DNA binding (GO:0003677)|signal transducer activity (GO:0004871)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(1)	12			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGCCAGTCCGACTTCCCCTA	0.662																																						ENST00000302517.3																			0				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(1)	12						c.(619-621)Gac>Tac		CXXC finger protein 5							25	30	28					5																	139060727		2073	4194	6267	SO:0001583	missense	51523				positive regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm|nucleus	DNA binding|signal transducer activity|zinc ion binding	g.chr5:139060727G>T	AK024338	CCDS43370.1	5q31.3	2014-02-18	2011-12-01						26943	protein-coding gene	gene with protein product	"retinoid-inducible nuclear factor", "WT1-induced Inhibitor of Dishevelled"	612752				11042152, 19001364, 19182210, 20220130	Standard	NM_016463		Approved	HSPC195, RINF, WID	uc010jfg.1	Q7LFL8		ENST00000302517.3:c.619G>T	5.37:g.139060727G>T	ENSP00000302543:p.Asp207Tyr					CXXC5_ENST00000515038.1_3'UTR|CXXC5_ENST00000511048.1_Missense_Mutation_p.D207Y	p.D207Y	NM_016463.7	NP_057547.5	Q7LFL8	CXXC5_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		2	1333	+			207					B3KND0|C8CBA8|Q8TB79|Q9NV51|Q9P0S8	Missense_Mutation	SNP	ENST00000302517.3	37	c.619G>T	CCDS43370.1	.	.	.	.	.	.	.	.	.	.	G	19.51	3.841914	0.71488	.	.	ENSG00000171604	ENST00000302517;ENST00000511048	.	.	.	5.46	5.46	0.80206	.	0.048855	0.85682	D	0.000000	T	0.65739	0.2720	L	0.27053	0.805	0.80722	D	1	D	0.89917	1.0	D	0.71184	0.972	T	0.69239	-0.5197	9	0.72032	D	0.01	-31.713	17.4774	0.87662	0.0:0.0:1.0:0.0	.	207	Q7LFL8	CXXC5_HUMAN	Y	207	.	ENSP00000302543:D207Y	D	+	1	0	CXXC5	139040911	1.000000	0.71417	1.000000	0.80357	0.715000	0.41141	9.373000	0.97168	2.566000	0.86566	0.555000	0.69702	GAC		0.662	CXXC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372744.1	NM_016463		6	22	1	0	2.7689e-08	1	2.90075e-08	6	22					T	139060727	G	T	139060727	3	4	410	1	0	0	0	0	1	0	0	0	4099	1058	37	5	621	5	CXXC5	5	139060727	Missense_Mutation	SNP	G	TCGA-VP-A875-01A-31D-A34U-08	28963643	139060727	41854533	14	19898											
PCDHB2	56133	broad.mit.edu	37	chr5	140475876	140475876	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gccccaggacccgcacctgcCcctcgcctccctggtctcca	4	6	8	23	2	1	0	0	0	1	0	4	1	2	1	9	2	1	1	9	2	0	0			TCGA-VP-A875-01A-31D-A34U-08	TCGA-VP-A875-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5f978ce-bc06-49da-99f3-b9064fdbe024	2e305204-80d3-4c7c-b416-3ceb01e18ae0	g.chr5:140475876C>T	ENST00000194155.4	+	1	1650	c.1502C>T	c.(1501-1503)cCc>cTc	p.P501L		NM_018936.2	NP_061759.1	Q9Y5E7	PCDB2_HUMAN	protocadherin beta 2	501	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCGCACCTGCCCCTCGCCTCC	0.692																																						ENST00000194155.4																			0				NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	71						c.(1501-1503)cCc>cTc									62	67	65					5																	140475876		2202	4296	6498	SO:0001583	missense	0				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	g.chr5:140475876C>T	AF152495	CCDS4244.1	5q31	2010-01-26			ENSG00000112852	ENSG00000112852		"Cadherins / Protocadherins : Clustered"	8687	other	protocadherin		606328				10380929	Standard	NM_018936		Approved	PCDH-BETA2	uc003lil.3	Q9Y5E7	OTTHUMG00000129606	ENST00000194155.4:c.1502C>T	5.37:g.140475876C>T	ENSP00000194155:p.Pro501Leu						p.P501L	NM_018936.2	NP_061759.1	Q9Y5E7	PCDB2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1650	+			501			Cadherin 5.		Q4KMU1	Missense_Mutation	SNP	ENST00000194155.4	37	c.1502C>T	CCDS4244.1	.	.	.	.	.	.	.	.	.	.	C	13.51	2.257818	0.39896	.	.	ENSG00000112852	ENST00000194155	T	0.01665	4.7	4.5	2.59	0.31030	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.03871	0.0109	L	0.52573	1.65	0.09310	N	1	P	0.47604	0.898	P	0.48770	0.589	T	0.36311	-0.9753	9	0.72032	D	0.01	.	10.6221	0.45487	0.1494:0.7066:0.144:0.0	.	501	Q9Y5E7	PCDB2_HUMAN	L	501	ENSP00000194155:P501L	ENSP00000194155:P501L	P	+	2	0	PCDHB2	140456060	0.000000	0.05858	0.001000	0.08648	0.877000	0.50540	0.025000	0.13577	0.389000	0.25086	0.556000	0.70494	CCC		0.692	PCDHB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251801.2	NM_018936		8	122	0	0	0	1	0	8	122					T	140475876	C	T	140475876	3	4	410	1	0	0	0	0	1	0	0	0	11542	623	22	3	1504	3	PCDHB2	5	140475876	Missense_Mutation	SNP	C	TCGA-VP-A875-01A-31D-A34U-08	1415149	140475876	40439384	15	19899											
GRIA1	2890	broad.mit.edu	37	chr5	153065834	153065834	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagtttaatgagaaaggacGccggaccaactacacgctcc	13	6	10	12	3	0	1	0	1	0	1	1	4	1	3	3	2	2	3	3	2	4	3	rs143445023		TCGA-VP-A875-01A-31D-A34U-08	TCGA-VP-A875-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5f978ce-bc06-49da-99f3-b9064fdbe024	2e305204-80d3-4c7c-b416-3ceb01e18ae0	g.chr5:153065834G>A	ENST00000285900.5	+	8	1422	c.1079G>A	c.(1078-1080)cGc>cAc	p.R360H	GRIA1_ENST00000340592.5_Missense_Mutation_p.R360H|GRIA1_ENST00000518783.1_Missense_Mutation_p.R370H|GRIA1_ENST00000518142.1_Missense_Mutation_p.R280H|GRIA1_ENST00000448073.4_Missense_Mutation_p.R370H|GRIA1_ENST00000521843.2_Missense_Mutation_p.R291H	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1	360					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|long-term memory (GO:0007616)|receptor internalization (GO:0031623)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|axonal spine (GO:0044308)|cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|dendrite membrane (GO:0032590)|dendritic spine (GO:0043197)|endocytic vesicle membrane (GO:0030666)|endoplasmic reticulum (GO:0005783)|neuron spine (GO:0044309)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|PDZ domain binding (GO:0030165)			NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Perampanel(DB08883)|Sevoflurane(DB01236)	GAGAAAGGACGCCGGACCAAC	0.468																																						ENST00000285900.5																			0				NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81						c.(1078-1080)cGc>cAc		glutamate receptor, ionotropic, AMPA 1	Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	G	HIS/ARG,HIS/ARG	2,4404	4.2+/-10.8	0,2,2201	152	137	142		1079,1079	5.2	1	5	dbSNP_134	142	0,8600		0,0,4300	no	missense,missense	GRIA1	NM_000827.3,NM_001114183.1	29,29	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	benign,benign	360/907,360/907	153065834	2,13004	2203	4300	6503	SO:0001583	missense	0				synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding	g.chr5:153065834G>A		CCDS4322.1, CCDS47318.1, CCDS58986.1, CCDS58987.1, CCDS58988.1, CCDS58989.1	5q33	2012-08-29			ENSG00000155511	ENSG00000155511		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4571	protein-coding gene	gene with protein product		138248		GLUR1		1652753, 1319477	Standard	NM_000827		Approved	GluA1, GLURA	uc011dcy.2	P42261	OTTHUMG00000130148	ENST00000285900.5:c.1079G>A	5.37:g.153065834G>A	ENSP00000285900:p.Arg360His					GRIA1_ENST00000340592.5_Missense_Mutation_p.R360H|GRIA1_ENST00000518142.1_Missense_Mutation_p.R280H|GRIA1_ENST00000521843.2_Missense_Mutation_p.R291H|GRIA1_ENST00000448073.4_Missense_Mutation_p.R370H|GRIA1_ENST00000518783.1_Missense_Mutation_p.R370H	p.R360H	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		8	1422	+		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	360					B7Z2S0|B7Z2W8|B7Z3F6|B7Z9G9|D3DQI4|E7ESV8|Q2NKM6	Missense_Mutation	SNP	ENST00000285900.5	37	c.1079G>A	CCDS4322.1	.	.	.	.	.	.	.	.	.	.	G	18.59	3.656684	0.67586	4.54E-4	0.0	ENSG00000155511	ENST00000285900;ENST00000544403;ENST00000518142;ENST00000537037;ENST00000340592;ENST00000521843;ENST00000544794;ENST00000518783;ENST00000448073	D;D;D;D;D;D;D	0.85171	-1.95;-1.95;-1.95;-1.95;-1.95;-1.95;-1.95	5.23	5.23	0.72850	Extracellular ligand-binding receptor (1);	0.000000	0.85682	D	0.000000	T	0.78521	0.4296	N	0.19112	0.55	0.80722	D	1	B;B;B;B;B;B	0.26363	0.028;0.028;0.147;0.028;0.009;0.038	B;B;B;B;B;B	0.29353	0.011;0.011;0.101;0.011;0.004;0.026	T	0.75847	-0.3173	10	0.48119	T	0.1	.	17.7586	0.88457	0.0:0.0:1.0:0.0	.	370;370;280;370;360;360	E7ESV8;B7Z9G9;B7Z3F6;B7Z2W8;P42261-2;P42261	.;.;.;.;.;GRIA1_HUMAN	H	360;360;280;314;360;291;291;370;370	ENSP00000285900:R360H;ENSP00000427920:R280H;ENSP00000339343:R360H;ENSP00000427864:R291H;ENSP00000442108:R291H;ENSP00000428994:R370H;ENSP00000415569:R370H	ENSP00000285900:R360H	R	+	2	0	GRIA1	153046027	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	3.589000	0.53972	2.432000	0.82394	0.655000	0.94253	CGC		0.468	GRIA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252456.3			13	69	0	0	0	1	0	13	69					A	153065834	G	A	153065834	3	1	410	1	0	0	0	0	1	0	0	0	6767	1087	38	1	1109	1	GRIA1	5	153065834	Missense_Mutation	SNP	G	TCGA-VP-A875-01A-31D-A34U-08	12589958	153065834	27849426	16	19900											
ACTB	60	broad.mit.edu	37	chr7	5568828	5568828	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cggttggccttggggttcagGggggcctcggtcagcagcac	4	8	18	11	2	2	0	2	0	0	0	3	0	2	0	2	8	2	4	2	8	0	3			TCGA-VP-A875-01A-31D-A34U-08	TCGA-VP-A875-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5f978ce-bc06-49da-99f3-b9064fdbe024	2e305204-80d3-4c7c-b416-3ceb01e18ae0	g.chr7:5568828G>A	ENST00000331789.5	-	3	518	c.327C>T	c.(325-327)ccC>ccT	p.P109P	AC006483.1_ENST00000579427.1_RNA|ACTB_ENST00000464611.1_5'Flank	NM_001101.3	NP_001092.1	P63261	ACTG_HUMAN	actin, beta	109					adherens junction organization (GO:0034332)|axon guidance (GO:0007411)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cellular component movement (GO:0006928)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane organization (GO:0061024)|platelet aggregation (GO:0070527)|retina homeostasis (GO:0001895)|sarcomere organization (GO:0045214)	blood microparticle (GO:0072562)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|membrane (GO:0016020)|myofibril (GO:0030016)|nucleus (GO:0005634)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|central_nervous_system(1)|large_intestine(2)|lung(2)|prostate(2)	8		Ovarian(82;0.0606)		UCEC - Uterine corpus endometrioid carcinoma (126;0.175)|OV - Ovarian serous cystadenocarcinoma(56;4.24e-37)		TGGGGTTCAGGGGGGCCTCGG	0.647																																						ENST00000331789.5																			0				NS(1)|central_nervous_system(1)|large_intestine(2)|lung(2)|prostate(2)	8						c.(325-327)ccC>ccT		actin, beta							48	53	51					7																	5568828		2203	4300	6503	SO:0001819	synonymous_variant	60				'de novo' posttranslational protein folding|adherens junction organization|axon guidance|blood coagulation|cell junction assembly|cellular component movement	cytoskeleton|cytosol|MLL5-L complex|NuA4 histone acetyltransferase complex|ribonucleoprotein complex	ATP binding|kinesin binding|nitric-oxide synthase binding|structural constituent of cytoskeleton	g.chr7:5568828G>A	M28424	CCDS5341.1	7p22	2014-09-17			ENSG00000075624	ENSG00000075624			132	protein-coding gene	gene with protein product		102630				1505215	Standard	NM_001101		Approved		uc003sot.4	P60709	OTTHUMG00000023268	ENST00000331789.5:c.327C>T	7.37:g.5568828G>A							p.P109P	NM_001101.3	NP_001092.1	P60709	ACTB_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.175)|OV - Ovarian serous cystadenocarcinoma(56;4.24e-37)	3	518	-		Ovarian(82;0.0606)	109					A8K7C2|P02571|P14104|P99022|Q5U032|Q96E67	Silent	SNP	ENST00000331789.5	37	c.327C>T	CCDS5341.1																																																																																				0.647	ACTB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059589.4	NM_001101		10	38	0	0	0	1	0	10	38					A	5568828	G	A	5568828	2	1	410	1	0	0	0	0	0	0	0	1	193	1219	43	3		3	ACTB	7	5568828	Silent	SNP	G	TCGA-VP-A875-01A-31D-A34U-08		5568828	153569835	17	19901											
THSD7A	221981	broad.mit.edu	37	chr7	11676141	11676141	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gacgcgtccggtgctggagcCcgctgccgcaggtcttggag	4	7	17	13	5	1	0	0	0	1	0	2	3	2	2	3	4	3	3	3	4	0	1			TCGA-VP-A875-01A-31D-A34U-08	TCGA-VP-A875-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5f978ce-bc06-49da-99f3-b9064fdbe024	2e305204-80d3-4c7c-b416-3ceb01e18ae0	g.chr7:11676141C>T	ENST00000423059.4	-	2	889	c.638G>A	c.(637-639)gGg>gAg	p.G213E	THSD7A_ENST00000480061.1_5'Flank	NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	213	TSP type-1 2. {ECO:0000255|PROSITE- ProRule:PRU00210}.				angiogenesis (GO:0001525)|cell differentiation (GO:0030154)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		GTGCTGGAGCCCGCTGCCGCA	0.607										HNSCC(18;0.044)																												ENST00000423059.3																			0				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113						c.(637-639)gGg>gAg		thrombospondin, type I, domain containing 7A							33	34	34					7																	11676141		1999	4168	6167	SO:0001583	missense	221981					integral to membrane		g.chr7:11676141C>T		CCDS47543.1	7p21.3	2006-10-16			ENSG00000005108	ENSG00000005108			22207	protein-coding gene	gene with protein product		612249					Standard	NM_015204		Approved	KIAA0960	uc021zzn.1	Q9UPZ6	OTTHUMG00000152346	ENST00000423059.4:c.638G>A	7.37:g.11676141C>T	ENSP00000406482:p.Gly213Glu	HNSCC(18;0.044)					p.G213E	NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.163)	2	889	-			213			TSP type-1 2.			Missense_Mutation	SNP	ENST00000423059.4	37	c.638G>A	CCDS47543.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.157938	0.78114	.	.	ENSG00000005108	ENST00000262042;ENST00000423059	D	0.83673	-1.75	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	D	0.94548	0.8244	H	0.96916	3.905	0.80722	D	1	D	0.63046	0.992	D	0.70227	0.968	D	0.95684	0.8734	10	0.87932	D	0	.	20.0333	0.97547	0.0:1.0:0.0:0.0	.	213	Q9UPZ6	THS7A_HUMAN	E	213	ENSP00000406482:G213E	ENSP00000262042:G213E	G	-	2	0	THSD7A	11642666	1.000000	0.71417	0.958000	0.39756	0.392000	0.30506	6.030000	0.70903	2.810000	0.96702	0.585000	0.79938	GGG		0.607	THSD7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325944.4	XM_928187.2		23	19	0	0	0	1	0	23	19					T	11676141	C	T	11676141	3	4	410	1	0	0	0	0	1	0	0	0	15876	623	22	3	4439	3	THSD7A	7	11676141	Missense_Mutation	SNP	C	TCGA-VP-A875-01A-31D-A34U-08	6107313	11676141	147462522	18	19902											
KRIT1	889	broad.mit.edu	37	chr7	91830634	91830634	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tacttacctgttttgtatgtActataaagctcattttattt	10	21	4	6	0	1	0	1	0	0	0	1	0	1	0	1	0	4	4	1	0	8	11			TCGA-VP-A875-01A-31D-A34U-08	TCGA-VP-A875-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5f978ce-bc06-49da-99f3-b9064fdbe024	2e305204-80d3-4c7c-b416-3ceb01e18ae0	g.chr7:91830634A>C	ENST00000340022.2	-	18	3147	c.2129T>G	c.(2128-2130)gTa>gGa	p.V710G	KRIT1_ENST00000412043.2_Missense_Mutation_p.V710G|Y_RNA_ENST00000363899.1_RNA|KRIT1_ENST00000394503.2_Missense_Mutation_p.V662G|KRIT1_ENST00000394505.2_Missense_Mutation_p.V710G|AC000120.7_ENST00000414227.1_RNA|KRIT1_ENST00000394507.1_Missense_Mutation_p.V710G|MIR1285-1_ENST00000408593.1_RNA	NM_004912.3|NM_194455.1	NP_004903.2|NP_919437.1	O00522	KRIT1_HUMAN	KRIT1, ankyrin repeat containing	710	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				angiogenesis (GO:0001525)|cell redox homeostasis (GO:0045454)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|positive regulation of protein binding (GO:0032092)|regulation of catalytic activity (GO:0050790)|regulation of establishment of cell polarity (GO:2000114)|small GTPase mediated signal transduction (GO:0007264)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|microtubule (GO:0005874)|plasma membrane (GO:0005886)	microtubule binding (GO:0008017)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein complex binding (GO:0032403)|small GTPase regulator activity (GO:0005083)	p.V710E(1)		autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(2)|stomach(1)	22	all_cancers(62;1.04e-09)|all_epithelial(64;5.75e-09)|Breast(17;0.00206)|all_lung(186;0.0509)|Lung NSC(181;0.0692)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			TTTTGTATGTACTATAAAGCT	0.289																																						ENST00000394507.1																			1	Substitution - Missense(1)	p.V710E(1)	haematopoietic_and_lymphoid_tissue(1)	autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(2)|stomach(1)	22						c.(2128-2130)gTa>gGa		KRIT1, ankyrin repeat containing							66	68	68					7																	91830634		2203	4294	6497	SO:0001583	missense	889				angiogenesis|cell redox homeostasis|negative regulation of angiogenesis|negative regulation of endothelial cell apoptosis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|regulation of establishment of cell polarity|small GTPase mediated signal transduction	cell-cell junction|cytoskeleton	protein binding|small GTPase regulator activity	g.chr7:91830634A>C	AJ294850	CCDS5624.1, CCDS34679.1	7q21.2	2014-09-17	2005-03-15	2005-03-17	ENSG00000001631	ENSG00000001631		"Ankyrin repeat domain containing"	1573	protein-coding gene	gene with protein product		604214	"cerebral cavernous malformations 1"	CCM1		7604043, 11342228	Standard	NM_194455		Approved	CAM	uc003ulu.1	O00522	OTTHUMG00000131187	ENST00000340022.2:c.2129T>G	7.37:g.91830634A>C	ENSP00000344668:p.Val710Gly					KRIT1_ENST00000394503.2_Missense_Mutation_p.V662G|KRIT1_ENST00000412043.2_Missense_Mutation_p.V710G|AC000120.7_ENST00000414227.1_RNA|KRIT1_ENST00000394505.2_Missense_Mutation_p.V710G|KRIT1_ENST00000340022.2_Missense_Mutation_p.V710G	p.V710G	NM_194456.1	NP_919438.1	O00522	KRIT1_HUMAN	STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)		19	2912	-	all_cancers(62;1.04e-09)|all_epithelial(64;5.75e-09)|Breast(17;0.00206)|all_lung(186;0.0509)|Lung NSC(181;0.0692)		710			FERM.|Required for RAP1A binding.		A6NNU0|O43894|Q506L6|Q6U276|Q75N19|Q9H180|Q9H264|Q9HAX5	Missense_Mutation	SNP	ENST00000340022.2	37	c.2129T>G	CCDS5624.1	.	.	.	.	.	.	.	.	.	.	A	19.29	3.799161	0.70567	.	.	ENSG00000001631	ENST00000394507;ENST00000340022;ENST00000412043;ENST00000394505;ENST00000394503	T;T;T;T;T	0.75367	0.47;0.47;0.47;0.47;-0.93	5.74	4.59	0.56863	FERM domain (1);	0.000000	0.85682	D	0.000000	D	0.82472	0.5044	L	0.59436	1.845	0.80722	D	1	D;D;D	0.71674	0.967;0.998;0.967	D;D;D	0.76071	0.95;0.987;0.95	T	0.83212	-0.0073	10	0.87932	D	0	0.0	11.5572	0.50755	0.9301:0.0:0.0699:0.0	.	710;662;710	A4D1F7;A6NNU0;O00522	.;.;KRIT1_HUMAN	G	710;710;710;710;662	ENSP00000378015:V710G;ENSP00000344668:V710G;ENSP00000410909:V710G;ENSP00000378013:V710G;ENSP00000378011:V662G	ENSP00000344668:V710G	V	-	2	0	KRIT1	91668570	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	8.774000	0.91767	1.004000	0.39156	-0.334000	0.08254	GTA		0.289	KRIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253910.1			5	134	0	0	0	1	0	5	134					C	91830634	A	C	91830634	3	2	410	1	0	0	0	0	1	0	0	0	8445	391	14	5	89	5	KRIT1	7	91830634	Missense_Mutation	SNP	A	TCGA-VP-A875-01A-31D-A34U-08	80154493	91830634	67308029	19	19903											
LAMB4	22798	broad.mit.edu	37	chr7	107703416	107703416	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggacactccatgggactcaCgccggaagcatggcaggagc	10	4	15	12	2	1	0	1	0	0	0	2	4	2	4	2	5	2	2	2	5	1	0	rs138272045		TCGA-VP-A875-01A-31D-A34U-08	TCGA-VP-A875-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5f978ce-bc06-49da-99f3-b9064fdbe024	2e305204-80d3-4c7c-b416-3ceb01e18ae0	g.chr7:107703416C>T	ENST00000388781.3	-	23	3168	c.3085G>A	c.(3085-3087)Gtg>Atg	p.V1029M	LAMB4_ENST00000205386.4_Missense_Mutation_p.V1029M|LAMB4_ENST00000388780.3_Missense_Mutation_p.V1029M	NM_007356.2	NP_031382.2	A4D0S4	LAMB4_HUMAN	laminin, beta 4	1029	Laminin EGF-like 11. {ECO:0000255|PROSITE-ProRule:PRU00460}.				cell adhesion (GO:0007155)	basement membrane (GO:0005604)				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						ATGGGACTCACGCCGGAAGCA	0.517																																						ENST00000388781.3																			0				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						c.(3085-3087)Gtg>Atg		laminin, beta 4		C	MET/VAL	1,4405		0,1,2202	51	47	49		3085	5.1	0.2	7	dbSNP_134	49	0,8600		0,0,4300	yes	missense	LAMB4	NM_007356.2	21	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	1029/1762	107703416	1,13005	2203	4300	6503	SO:0001583	missense	22798				cell adhesion	basement membrane		g.chr7:107703416C>T	AF028816	CCDS34732.1	7q31	2013-03-01			ENSG00000091128	ENSG00000091128		"Laminins"	6491	protein-coding gene	gene with protein product							Standard	NM_007356		Approved		uc010ljo.1	A4D0S4	OTTHUMG00000154874	ENST00000388781.3:c.3085G>A	7.37:g.107703416C>T	ENSP00000373433:p.Val1029Met					LAMB4_ENST00000388780.3_Missense_Mutation_p.V1029M|LAMB4_ENST00000205386.4_Missense_Mutation_p.V1029M	p.V1029M	NM_007356.2	NP_031382.2	A4D0S4	LAMB4_HUMAN			23	3168	-			1029			Laminin EGF-like 11.		A5PKU6|B2RTT3|B5MEB9|Q86TP7|Q86XN2|Q8NBX5	Missense_Mutation	SNP	ENST00000388781.3	37	c.3085G>A	CCDS34732.1	.	.	.	.	.	.	.	.	.	.	C	17.61	3.433447	0.62955	2.27E-4	0.0	ENSG00000091128	ENST00000205386;ENST00000388781;ENST00000422975;ENST00000388780	T;T;T;T	0.61510	0.1;0.1;0.1;0.1	5.12	5.12	0.69794	EGF-like, laminin (3);	0.000000	0.47093	D	0.000251	T	0.71273	0.3320	L	0.58810	1.83	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	T	0.72846	-0.4169	10	0.87932	D	0	.	13.4143	0.60959	0.0:0.9248:0.0:0.0752	.	1029	A4D0S4	LAMB4_HUMAN	M	1029;1029;55;1029	ENSP00000205386:V1029M;ENSP00000373433:V1029M;ENSP00000416562:V55M;ENSP00000373432:V1029M	ENSP00000205386:V1029M	V	-	1	0	LAMB4	107490652	0.317000	0.24589	0.183000	0.23137	0.022000	0.10575	1.774000	0.38573	2.820000	0.97059	0.650000	0.86243	GTG		0.517	LAMB4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337442.1	XM_209857		14	16	0	0	0	1	0	14	16					T	107703416	C	T	107703416	3	4	410	1	0	0	0	0	1	0	0	0	8613	536	19	1	2248	1	LAMB4	7	107703416	Missense_Mutation	SNP	C	TCGA-VP-A875-01A-31D-A34U-08	15872782	107703416	51435247	20	19904											
MLL3	58508	broad.mit.edu	37	chr7	151884803	151884803	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gaaaataaggcttgtacctgGcatcaggataagaggattgt	14	10	12	5	0	1	1	1	0	0	1	1	4	1	3	1	4	1	3	1	4	5	5			TCGA-VP-A875-01A-31D-A34U-08	TCGA-VP-A875-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5f978ce-bc06-49da-99f3-b9064fdbe024	2e305204-80d3-4c7c-b416-3ceb01e18ae0	g.chr7:151884803G>A	ENST00000262189.6	-	32	5008	c.4790C>T	c.(4789-4791)gCc>gTc	p.A1597V	KMT2C_ENST00000355193.2_Missense_Mutation_p.A1597V	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	1597					histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										CTTGTACCTGGCATCAGGATA	0.368																																						ENST00000355193.2																			0											c.(4789-4791)gCc>gTc		lysine (K)-specific methyltransferase 2C							94	91	92					7																	151884803		2203	4300	6503	SO:0001583	missense	58508							g.chr7:151884803G>A	AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	13726	protein-coding gene	gene with protein product		606833	"myeloid/lymphoid or mixed-lineage leukemia 3"	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.4790C>T	7.37:g.151884803G>A	ENSP00000262189:p.Ala1597Val					KMT2C_ENST00000262189.6_Missense_Mutation_p.A1597V	p.A1597V							32	5008	-								Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Missense_Mutation	SNP	ENST00000262189.6	37	c.4790C>T	CCDS5931.1	.	.	.	.	.	.	.	.	.	.	G	12.99	2.103398	0.37145	.	.	ENSG00000055609	ENST00000262189;ENST00000355193	D;D	0.83335	-1.71;-1.71	5.56	3.66	0.41972	.	0.694548	0.11983	N	0.510547	T	0.65059	0.2655	N	0.08118	0	0.80722	D	1	B;B	0.10296	0.001;0.003	B;B	0.11329	0.001;0.006	T	0.53718	-0.8399	10	0.26408	T	0.33	.	6.487	0.22095	0.1666:0.1465:0.6869:0.0	.	1597;658	Q8NEZ4;Q8NEZ4-2	MLL3_HUMAN;.	V	1597	ENSP00000262189:A1597V;ENSP00000347325:A1597V	ENSP00000262189:A1597V	A	-	2	0	MLL3	151515736	0.941000	0.31946	0.806000	0.32338	0.968000	0.65278	1.431000	0.34925	0.730000	0.32425	0.643000	0.83706	GCC		0.368	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3			4	73	0	0	0	1	0	4	73					A	151884803	G	A	151884803	3	1	410	1	0	0	0	0	1	0	0	0	9622	1203	42	3	10057	3	MLL3	7	151884803	Missense_Mutation	SNP	G	TCGA-VP-A875-01A-31D-A34U-08	44181387	151884803	7253860	21	19905											
LMBR1	64327	broad.mit.edu	37	chr7	156554869	156554869	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	acccatcactgtgaacatacGagaaaggccaactggtgtac	14	7	9	11	1	1	2	1	1	0	1	1	3	1	2	2	2	4	1	2	2	5	2			TCGA-VP-A875-01A-31D-A34U-08	TCGA-VP-A875-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5f978ce-bc06-49da-99f3-b9064fdbe024	2e305204-80d3-4c7c-b416-3ceb01e18ae0	g.chr7:156554869G>A	ENST00000353442.5	-	8	879	c.643C>T	c.(643-645)Cgt>Tgt	p.R215C	LMBR1_ENST00000540390.1_Missense_Mutation_p.R194C|LMBR1_ENST00000354505.4_Missense_Mutation_p.R215C|LMBR1_ENST00000359422.4_Missense_Mutation_p.R63C	NM_022458.3	NP_071903.2	Q8WVP7	LMBR1_HUMAN	limb development membrane protein 1	215					embryonic digit morphogenesis (GO:0042733)	integral component of membrane (GO:0016021)		p.R215S(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|skin(1)	18	Ovarian(565;0.218)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.00231)	UCEC - Uterine corpus endometrioid carcinoma (81;0.208)		GTGAACATACGAGAAAGGCCA	0.338																																						ENST00000353442.4																			1	Substitution - Missense(1)	p.R215S(1)	lung(1)	breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|skin(1)	18						c.(643-645)Cgt>Tgt		limb development membrane protein 1							82	77	79					7																	156554869		2203	4300	6503	SO:0001583	missense	64327					integral to membrane	receptor activity	g.chr7:156554869G>A	AF107454	CCDS5945.1	7q36.3	2013-08-05	2013-08-05	2005-07-25	ENSG00000105983	ENSG00000105983			13243	protein-coding gene	gene with protein product		605522	"chromosome 7 open reading frame 2", "limb region 1 homolog (mouse)"	C7orf2		10329000, 11090342	Standard	NM_022458		Approved	ACHP, FLJ11665, ZRS	uc003wmw.4	Q8WVP7	OTTHUMG00000151510	ENST00000353442.5:c.643C>T	7.37:g.156554869G>A	ENSP00000326604:p.Arg215Cys					LMBR1_ENST00000359422.4_Missense_Mutation_p.R63C|LMBR1_ENST00000540390.1_Missense_Mutation_p.R194C|LMBR1_ENST00000354505.4_Missense_Mutation_p.R215C	p.R215C	NM_022458.3	NP_071903.2	Q8WVP7	LMBR1_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00231)	UCEC - Uterine corpus endometrioid carcinoma (81;0.208)	8	879	-	Ovarian(565;0.218)	all_hematologic(28;0.0592)	215					A4D242|Q8N3E3|Q96QZ5|Q9H5N0|Q9HAG9|Q9UDN5|Q9Y6U2	Missense_Mutation	SNP	ENST00000353442.5	37	c.643C>T	CCDS5945.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.340110	0.81911	.	.	ENSG00000105983	ENST00000353442;ENST00000359422;ENST00000415428;ENST00000354505;ENST00000540390	T;T;T;T;T	0.32753	1.44;1.44;1.44;1.44;1.44	4.79	4.79	0.61399	LMBR1-like membrane protein (1);	0.000000	0.85682	D	0.000000	T	0.57858	0.2082	M	0.74647	2.275	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.984;0.998	T	0.63752	-0.6566	10	0.87932	D	0	-7.232	18.2153	0.89884	0.0:0.0:1.0:0.0	.	194;215;215	B7Z633;Q8WVP7-3;Q8WVP7	.;.;LMBR1_HUMAN	C	215;63;213;215;194	ENSP00000326604:R215C;ENSP00000352392:R63C;ENSP00000408256:R213C;ENSP00000346500:R215C;ENSP00000445509:R194C	ENSP00000326604:R215C	R	-	1	0	LMBR1	156247630	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.379000	0.66196	2.350000	0.79820	0.591000	0.81541	CGT		0.338	LMBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347939.3	NM_022458		10	76	0	0	0	1	0	10	76					A	156554869	G	A	156554869	3	1	410	1	0	0	0	0	1	0	0	0	8840	1058	37	2	869	2	LMBR1	7	156554869	Missense_Mutation	SNP	G	TCGA-VP-A875-01A-31D-A34U-08	4670066	156554869	2583794	22	19906											
DLC1	10395	broad.mit.edu	37	chr8	12952652	12952652	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgctggatgctctgaggcaaCggttgtcctgtgcgctgcac	5	11	14	11	2	1	1	0	1	1	0	2	2	2	2	1	3	5	6	1	3	1	1	rs138098839		TCGA-VP-A875-01A-31D-A34U-08	TCGA-VP-A875-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5f978ce-bc06-49da-99f3-b9064fdbe024	2e305204-80d3-4c7c-b416-3ceb01e18ae0	g.chr8:12952652C>T	ENST00000276297.4	-	11	3679	c.3270G>A	c.(3268-3270)ccG>ccA	p.P1090P	DLC1_ENST00000358919.2_Silent_p.P653P|DLC1_ENST00000512044.2_Silent_p.P687P|DLC1_ENST00000520226.1_Silent_p.P579P|DLC1_ENST00000510318.1_5'UTR	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN	DLC1 Rho GTPase activating protein	1090	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				actin cytoskeleton organization (GO:0030036)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|focal adhesion assembly (GO:0048041)|forebrain development (GO:0030900)|heart morphogenesis (GO:0003007)|hindbrain morphogenesis (GO:0021575)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of stress fiber assembly (GO:0051497)|neural tube closure (GO:0001843)|positive regulation of execution phase of apoptosis (GO:1900119)|positive regulation of protein dephosphorylation (GO:0035307)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	lipid binding (GO:0008289)|Rho GTPase activator activity (GO:0005100)|SH2 domain binding (GO:0042169)			NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						TCTGAGGCAACGGTTGTCCTG	0.592													C|||	1	0.000199681	0	0	5008	,	,		20762	0		0.001	False		,,,				2504	0					ENST00000276297.4																			0				NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						c.(3268-3270)ccG>ccA		deleted in liver cancer 1		C	,,	0,4406		0,0,2203	144	110	121		1737,1959,3270	0.9	1	8	dbSNP_134	121	3,8597	3.0+/-9.4	0,3,4297	no	coding-synonymous,coding-synonymous,coding-synonymous	DLC1	NM_001164271.1,NM_006094.4,NM_182643.2	,,	0,3,6500	TT,TC,CC		0.0349,0.0,0.0231	,,	579/1018,653/1092,1090/1529	12952652	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	10395				actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding	g.chr8:12952652C>T	AF035119	CCDS5989.1, CCDS5990.1, CCDS5991.1, CCDS5991.2, CCDS55201.1	8p22	2014-06-20	2014-06-20		ENSG00000164741	ENSG00000164741		"Rho GTPase activating proteins", "StAR-related lipid transfer (START) domain containing"	2897	protein-coding gene	gene with protein product	"StAR-related lipid transfer (START) domain containing 12"	604258	"deleted in liver cancer 1"			9605766, 11214970	Standard	NM_182643		Approved	HP, ARHGAP7, STARD12, DLC-1, p122-RhoGAP	uc003wwm.2	Q96QB1	OTTHUMG00000090825	ENST00000276297.4:c.3270G>A	8.37:g.12952652C>T						DLC1_ENST00000358919.2_Silent_p.P653P|DLC1_ENST00000512044.2_Silent_p.P687P|DLC1_ENST00000520226.1_Silent_p.P579P|DLC1_ENST00000510318.1_5'UTR	p.P1090P	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN			11	3679	-			1090			Rho-GAP.		B4DR10|B8PTI0|E9PDZ8|E9PF76|E9PGY9|O14868|O43199|Q7Z5R8|Q86UC6|Q9C0E0|Q9H7A2	Silent	SNP	ENST00000276297.4	37	c.3270G>A	CCDS5989.1																																																																																				0.592	DLC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207632.2	NM_182643, NM_006094		5	38	0	0	0	1	0	5	38					T	12952652	C	T	12952652	2	4	410	1	0	0	0	0	0	0	0	1	4550	523	19	1		1	DLC1	8	12952652	Silent	SNP	C	TCGA-VP-A875-01A-31D-A34U-08		12952652	133411370	23	19907											
RAB11FIP1	80223	broad.mit.edu	37	chr8	37732086	37732086	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggagaggaaattggaggtctCggttcagacttggactctgg	9	10	16	6	1	3	2	1	0	2	2	4	6	3	5	0	7	0	1	0	7	1	3			TCGA-VP-A875-01A-31D-A34U-08	TCGA-VP-A875-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5f978ce-bc06-49da-99f3-b9064fdbe024	2e305204-80d3-4c7c-b416-3ceb01e18ae0	g.chr8:37732086C>T	ENST00000330843.4	-	3	1581	c.1569G>A	c.(1567-1569)ccG>ccA	p.P523P	RAB11FIP1_ENST00000524118.1_Silent_p.P375P|RAB11FIP1_ENST00000523182.1_5'Flank|RAB11FIP1_ENST00000287263.4_Silent_p.P523P|RAB11FIP1_ENST00000522727.1_Silent_p.P375P	NM_001002814.2	NP_001002814.2	Q6WKZ4	RFIP1_HUMAN	RAB11 family interacting protein 1 (class I)	523					protein transport (GO:0015031)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)		p.P523P(1)		NS(1)|breast(1)|central_nervous_system(4)|endometrium(3)|large_intestine(6)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	49		Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;3.62e-11)			TTGGAGGTCTCGGTTCAGACT	0.552																																						ENST00000330843.4																			1	Substitution - coding silent(1)	p.P523P(1)	lung(1)	NS(1)|breast(1)|central_nervous_system(4)|endometrium(3)|large_intestine(6)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	49						c.(1567-1569)ccG>ccA		RAB11 family interacting protein 1 (class I)							72	71	72					8																	37732086		2203	4300	6503	SO:0001819	synonymous_variant	80223				protein transport	centrosome|phagocytic vesicle membrane|recycling endosome	protein binding	g.chr8:37732086C>T	AK092296	CCDS34881.1, CCDS34882.1	8p11.22	2005-10-04			ENSG00000156675	ENSG00000156675			30265	protein-coding gene	gene with protein product		608737				11786538, 11495908	Standard	NM_001002814		Approved	RCP, FLJ22622, FLJ22524, Rab11-FIP1	uc003xkm.2	Q6WKZ4	OTTHUMG00000164026	ENST00000330843.4:c.1569G>A	8.37:g.37732086C>T						RAB11FIP1_ENST00000287263.4_Silent_p.P523P|RAB11FIP1_ENST00000522727.1_Silent_p.P375P|RAB11FIP1_ENST00000524118.1_Silent_p.P375P	p.P523P	NM_001002814.2	NP_001002814.2	Q6WKZ4	RFIP1_HUMAN	LUSC - Lung squamous cell carcinoma(8;3.62e-11)		3	1581	-		Lung NSC(58;0.118)|all_lung(54;0.195)	523					J3KNP0|Q307T1|Q6AZK4|Q6WKZ2|Q6WKZ6|Q86YV4|Q8TDL1|Q9H642	Silent	SNP	ENST00000330843.4	37	c.1569G>A	CCDS34882.1																																																																																				0.552	RAB11FIP1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000376816.1	NM_025151		4	22	0	0	0	1	0	4	22					T	37732086	C	T	37732086	2	4	410	1	0	0	0	0	0	0	0	1	12893	871	31	2		2	RAB11FIP1	8	37732086	Silent	SNP	C	TCGA-VP-A875-01A-31D-A34U-08	24779434	37732086	108631936	24	19908											
ST18	9705	broad.mit.edu	37	chr8	53079457	53079457	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggggcaccccgaaaggctgcGgtggtgcgggtagagccctg	6	5	19	11	3	0	1	0	0	0	1	0	2	0	1	3	6	3	3	3	6	2	1			TCGA-VP-A875-01A-31D-A34U-08	TCGA-VP-A875-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5f978ce-bc06-49da-99f3-b9064fdbe024	2e305204-80d3-4c7c-b416-3ceb01e18ae0	g.chr8:53079457G>A	ENST00000276480.7	-	11	1842	c.1159C>T	c.(1159-1161)Cgc>Tgc	p.R387C		NM_014682.2	NP_055497.1	O60284	ST18_HUMAN	suppression of tumorigenicity 18, zinc finger	387					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				GAAAGGCTGCGGTGGTGCGGG	0.562																																						ENST00000276480.7																			0				NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85						c.(1159-1161)Cgc>Tgc		suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein)							100	100	100					8																	53079457		2203	4300	6503	SO:0001583	missense	9705					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:53079457G>A	AB011107	CCDS6149.1	8q11.23	2014-03-24	2014-03-24	2002-12-13	ENSG00000147488	ENSG00000147488		"Zinc fingers, C2HC-type containing"	18695	protein-coding gene	gene with protein product	"neural zinc finger transcription factor 3"		"zinc finger protein 387", "suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein)"	ZNF387		15489893	Standard	NM_014682		Approved	KIAA0535, ZC2HC10, NZF3	uc003xra.2	O60284	OTTHUMG00000164233	ENST00000276480.7:c.1159C>T	8.37:g.53079457G>A	ENSP00000276480:p.Arg387Cys						p.R387C	NM_014682.2	NP_055497.1	O60284	ST18_HUMAN			11	1842	-		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)	387					Q17RY1	Missense_Mutation	SNP	ENST00000276480.7	37	c.1159C>T	CCDS6149.1	.	.	.	.	.	.	.	.	.	.	G	26.1	4.701536	0.88924	.	.	ENSG00000147488	ENST00000276480;ENST00000517580	T;T	0.65916	-0.06;-0.18	5.57	5.57	0.84162	.	0.000000	0.85682	D	0.000000	D	0.83385	0.5243	M	0.91300	3.195	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.64687	0.928;0.923	D	0.86925	0.2069	10	0.87932	D	0	-17.1765	19.5372	0.95257	0.0:0.0:1.0:0.0	.	387;387	E5RHS3;O60284	.;ST18_HUMAN	C	387	ENSP00000276480:R387C;ENSP00000428521:R387C	ENSP00000276480:R387C	R	-	1	0	ST18	53242010	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.518000	0.60510	2.609000	0.88269	0.563000	0.77884	CGC		0.562	ST18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377867.1			13	108	0	0	0	1	0	13	108					A	53079457	G	A	53079457	3	1	410	1	0	0	0	0	1	0	0	0	15211	1116	39	2	2048	2	ST18	8	53079457	Missense_Mutation	SNP	G	TCGA-VP-A875-01A-31D-A34U-08	15347371	53079457	93284565	25	19909											
VPS13B	157680	broad.mit.edu	37	chr8	100789020	100789020	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tagctctgcaagtgagtctgGttctcaaagcacttgtgatc	9	13	10	9	0	3	2	1	2	3	0	5	2	3	2	0	1	3	4	0	1	3	3			TCGA-VP-A875-01A-31D-A34U-08	TCGA-VP-A875-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5f978ce-bc06-49da-99f3-b9064fdbe024	2e305204-80d3-4c7c-b416-3ceb01e18ae0	g.chr8:100789020G>C	ENST00000358544.2	+	41	7451	c.7340G>C	c.(7339-7341)gGt>gCt	p.G2447A	VPS13B_ENST00000395996.1_3'UTR|VPS13B_ENST00000357162.2_Missense_Mutation_p.G2422A	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	2447					protein transport (GO:0015031)					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			AGTGAGTCTGGTTCTCAAAGC	0.428																																					Colon(161;2205 2542 7338 31318)	ENST00000358544.2																			0				NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193						c.(7339-7341)gGt>gCt		vacuolar protein sorting 13 homolog B (yeast)							163	140	148					8																	100789020		2203	4300	6503	SO:0001583	missense	157680				protein transport			g.chr8:100789020G>C	AJ608772	CCDS6280.1, CCDS6281.1, CCDS6283.1, CCDS47903.1	8q22-q23	2014-09-17	2006-12-19	2005-04-08	ENSG00000132549	ENSG00000132549			2183	protein-coding gene	gene with protein product		607817	"Cohen syndrome 1"	CHS1, COH1		7920642, 15498460	Standard	NM_181661		Approved		uc003yiv.4	Q7Z7G8	OTTHUMG00000140383	ENST00000358544.2:c.7340G>C	8.37:g.100789020G>C	ENSP00000351346:p.Gly2447Ala					VPS13B_ENST00000395996.1_3'UTR|VPS13B_ENST00000357162.2_Missense_Mutation_p.G2422A	p.G2447A	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.00636)		41	7451	+	Breast(36;3.73e-07)		2447					C9JD30|Q709C6|Q709C7|Q7Z7G4|Q7Z7G5|Q7Z7G6|Q7Z7G7|Q8NB77|Q9NWV1|Q9Y4E7	Missense_Mutation	SNP	ENST00000358544.2	37	c.7340G>C	CCDS6280.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.168571	0.78339	.	.	ENSG00000132549	ENST00000357162;ENST00000358544	T;T	0.69175	-0.38;-0.38	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	T	0.79913	0.4528	L	0.54323	1.7	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.85130	0.984;0.997	T	0.80023	-0.1556	10	0.56958	D	0.05	.	19.4449	0.94843	0.0:0.0:1.0:0.0	.	2422;2447	Q7Z7G8-2;Q7Z7G8	.;VP13B_HUMAN	A	2422;2447	ENSP00000349685:G2422A;ENSP00000351346:G2447A	ENSP00000349685:G2422A	G	+	2	0	VPS13B	100858196	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.852000	0.99516	2.583000	0.87209	0.650000	0.86243	GGT		0.428	VPS13B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000277138.1	NM_184042		39	45	0	0	0	1	0	39	45					C	100789020	G	C	100789020	3	2	410	1	0	0	0	0	1	0	0	0	17187	1261	44	5	7692	5	VPS13B	8	100789020	Missense_Mutation	SNP	G	TCGA-VP-A875-01A-31D-A34U-08	47709563	100789020	45575002	26	19910											
ALDH1B1	219	broad.mit.edu	37	chr9	38396827	38396827	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggacacccagcaggggcctcAggtggacaaggagcagtttg	10	5	16	10	0	1	0	1	0	0	0	1	3	1	3	2	6	2	3	2	6	1	1			TCGA-VP-A875-01A-31D-A34U-08	TCGA-VP-A875-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5f978ce-bc06-49da-99f3-b9064fdbe024	2e305204-80d3-4c7c-b416-3ceb01e18ae0	g.chr9:38396827A>G	ENST00000377698.3	+	2	1235	c.1082A>G	c.(1081-1083)cAg>cGg	p.Q361R		NM_000692.4	NP_000683.3	P30837	AL1B1_HUMAN	aldehyde dehydrogenase 1 family, member B1	361					carbohydrate metabolic process (GO:0005975)|ethanol catabolic process (GO:0006068)	intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	aldehyde dehydrogenase (NAD) activity (GO:0004029)			NS(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(1)|stomach(2)|urinary_tract(2)	32				GBM - Glioblastoma multiforme(29;0.043)|Lung(182;0.115)		CAGGGGCCTCAGGTGGACAAG	0.557																																						ENST00000377698.3																			0				NS(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(1)|stomach(2)|urinary_tract(2)	32						c.(1081-1083)cAg>cGg		aldehyde dehydrogenase 1 family, member B1	NADH(DB00157)						60	60	60					9																	38396827		2203	4300	6503	SO:0001583	missense	219				carbohydrate metabolic process	mitochondrial matrix|nucleus	aldehyde dehydrogenase (NAD) activity	g.chr9:38396827A>G	M63967	CCDS6615.1	9p13	2008-02-05			ENSG00000137124	ENSG00000137124	1.2.1.3	"Aldehyde dehydrogenases"	407	protein-coding gene	gene with protein product		100670		ALDH5		2061311	Standard	NM_000692		Approved	ALDHX	uc004aay.3	P30837	OTTHUMG00000019938	ENST00000377698.3:c.1082A>G	9.37:g.38396827A>G	ENSP00000366927:p.Gln361Arg						p.Q361R	NM_000692.4	NP_000683.3	P30837	AL1B1_HUMAN		GBM - Glioblastoma multiforme(29;0.043)|Lung(182;0.115)	2	1235	+			361					B2R8F0|Q8WX76|Q9BV45	Missense_Mutation	SNP	ENST00000377698.3	37	c.1082A>G	CCDS6615.1	.	.	.	.	.	.	.	.	.	.	A	20.6	4.009900	0.75046	.	.	ENSG00000137124	ENST00000377698;ENST00000540055	T	0.76316	-1.01	5.67	5.67	0.87782	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, C-terminal (1);Aldehyde/histidinol dehydrogenase (1);	0.000000	0.64402	D	0.000013	D	0.89455	0.6720	M	0.89095	3.005	0.54753	D	0.999989	D	0.89917	1.0	D	0.87578	0.998	D	0.91305	0.5070	10	0.87932	D	0	.	13.8662	0.63590	1.0:0.0:0.0:0.0	.	361	P30837	AL1B1_HUMAN	R	361;62	ENSP00000366927:Q361R	ENSP00000366927:Q361R	Q	+	2	0	ALDH1B1	38386827	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	8.985000	0.93487	2.156000	0.67533	0.533000	0.62120	CAG		0.557	ALDH1B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052492.1			3	39	0	0	0	1	0	3	39					G	38396827	A	G	38396827	3	3	410	1	0	0	0	0	1	0	0	0	493	188	7	4	1084	4	ALDH1B1	9	38396827	Missense_Mutation	SNP	A	TCGA-VP-A875-01A-31D-A34U-08		38396827	102816604	27	19911											
CPN1	1369	broad.mit.edu	37	chr10	101802208	101802208	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gcagggcctctctgcagctgCctcatctccatttctttctt	4	15	7	15	0	5	0	1	0	4	0	7	0	5	0	3	1	3	3	3	1	0	3			TCGA-VP-A875-01A-31D-A34U-08	TCGA-VP-A875-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5f978ce-bc06-49da-99f3-b9064fdbe024	2e305204-80d3-4c7c-b416-3ceb01e18ae0	g.chr10:101802208C>T	ENST00000370418.3	-	9	1604	c.1353G>A	c.(1351-1353)agG>agA	p.R451R		NM_001308.2	NP_001299.1	P15169	CBPN_HUMAN	carboxypeptidase N, polypeptide 1	451					response to glucocorticoid (GO:0051384)	extracellular space (GO:0005615)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	33		Colorectal(252;0.234)		Epithelial(162;4.77e-10)|all cancers(201;3.82e-08)		TCTGCAGCTGCCTCATCTCCA	0.532																																						ENST00000370418.3																			0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	33						c.(1351-1353)agG>agA		carboxypeptidase N, polypeptide 1							95	85	88					10																	101802208		2203	4300	6503	SO:0001819	synonymous_variant	1369				proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding	g.chr10:101802208C>T	X14329	CCDS7486.1	10q24.2	2012-02-10	2007-02-23		ENSG00000120054	ENSG00000120054	3.4.17.3		2312	protein-coding gene	gene with protein product	"anaphylatoxin inactivator", "arginine carboxypeptidase", "carboxypeptidase K", "kininase I", "lysine carboxypeptidase"	603103	"carboxypeptidase N, polypeptide 1, 50kD"			9628828, 2912725	Standard	NM_001308		Approved		uc001kql.2	P15169	OTTHUMG00000018896	ENST00000370418.3:c.1353G>A	10.37:g.101802208C>T							p.R451R	NM_001308.2	NP_001299.1	P15169	CBPN_HUMAN		Epithelial(162;4.77e-10)|all cancers(201;3.82e-08)	9	1604	-		Colorectal(252;0.234)	451					B1AP59	Silent	SNP	ENST00000370418.3	37	c.1353G>A	CCDS7486.1																																																																																				0.532	CPN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049828.1	NM_001308		9	55	0	0	0	1	0	9	55					T	101802208	C	T	101802208	2	4	410	1	0	0	0	0	0	0	0	1	3809	738	26	3		3	CPN1	10	101802208	Silent	SNP	C	TCGA-VP-A875-01A-31D-A34U-08		101802208	33732539	28	19912											
NELL1	4745	broad.mit.edu	37	chr11	20949942	20949942	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gagtggtgccgtggaatgccGaaggatgtcctgtccccctc	6	9	14	12	2	0	0	0	0	0	0	3	4	2	2	5	3	2	0	5	3	2	0	rs370190924		TCGA-VP-A875-01A-31D-A34U-08	TCGA-VP-A875-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5f978ce-bc06-49da-99f3-b9064fdbe024	2e305204-80d3-4c7c-b416-3ceb01e18ae0	g.chr11:20949942G>A	ENST00000357134.5	+	9	1066	c.914G>A	c.(913-915)cGa>cAa	p.R305Q	NELL1_ENST00000325319.5_Missense_Mutation_p.R248Q|NELL1_ENST00000532434.1_Missense_Mutation_p.R305Q|NELL1_ENST00000298925.5_Missense_Mutation_p.R333Q	NM_006157.3|NM_201551.1	NP_006148.2|NP_963845.1	Q92832	NELL1_HUMAN	NEL-like 1 (chicken)	305	VWFC 1. {ECO:0000255|PROSITE- ProRule:PRU00220}.				cell differentiation (GO:0030154)|negative regulation of cyclin catabolic process (GO:2000599)|negative regulation of osteoblast proliferation (GO:0033689)|nervous system development (GO:0007399)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|regulation of gene expression (GO:0010468)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|nuclear envelope (GO:0005635)|perinuclear region of cytoplasm (GO:0048471)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	70						GTGGAATGCCGAAGGATGTCC	0.517																																						ENST00000298925.5																			0				NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	70						c.(997-999)cGa>cAa		NEL-like 1 (chicken)		G	GLN/ARG,GLN/ARG	0,4406		0,0,2203	202	161	175		914,914	5	1	11		175	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	NELL1	NM_201551.1,NM_006157.3	43,43	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign,benign	305/764,305/811	20949942	1,13005	2203	4300	6503	SO:0001583	missense	4745				cell adhesion|nervous system development	extracellular region	calcium ion binding|structural molecule activity	g.chr11:20949942G>A	AK127805	CCDS7855.1, CCDS44555.1, CCDS73267.1, CCDS73268.1	11p15.1	2008-02-01	2001-11-28		ENSG00000165973	ENSG00000165973			7750	protein-coding gene	gene with protein product		602319	"nel (chicken)-like 1"			8975702	Standard	NM_006157		Approved	IDH3GL, FLJ45906	uc001mqe.3	Q92832	OTTHUMG00000166042	ENST00000357134.5:c.914G>A	11.37:g.20949942G>A	ENSP00000349654:p.Arg305Gln					NELL1_ENST00000532434.1_Missense_Mutation_p.R305Q|NELL1_ENST00000325319.5_Missense_Mutation_p.R248Q|NELL1_ENST00000357134.5_Missense_Mutation_p.R305Q	p.R333Q			Q92832	NELL1_HUMAN			10	1151	+			305					B2CKC1|Q4VB90|Q4VB91|Q6NSY8|Q9Y472	Missense_Mutation	SNP	ENST00000357134.5	37	c.998G>A	CCDS7855.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.364823	0.82463	0.0	1.16E-4	ENSG00000165973	ENST00000298925;ENST00000357134;ENST00000325319;ENST00000532434	T;T;T;T	0.72282	-0.64;-0.64;-0.64;-0.64	5.93	5.02	0.67125	von Willebrand factor, type C (4);	0.000000	0.85682	D	0.000000	T	0.65668	0.2713	N	0.13168	0.305	0.50632	D	0.999882	B;B;D;B	0.60160	0.218;0.259;0.987;0.164	B;B;P;B	0.54238	0.016;0.027;0.746;0.027	T	0.66240	-0.5973	10	0.31617	T	0.26	-10.0207	15.0894	0.72180	0.0677:0.0:0.9323:0.0	.	248;333;305;305	F5H6I3;B3KXR2;Q92832-2;Q92832	.;.;.;NELL1_HUMAN	Q	333;305;248;305	ENSP00000298925:R333Q;ENSP00000349654:R305Q;ENSP00000317837:R248Q;ENSP00000437170:R305Q	ENSP00000298925:R333Q	R	+	2	0	NELL1	20906518	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	6.736000	0.74811	1.512000	0.48834	0.561000	0.74099	CGA		0.517	NELL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387588.1	NM_006157		7	29	0	0	0	1	0	7	29					A	20949942	G	A	20949942	3	1	410	1	0	0	0	0	1	0	0	0	10333	1058	37	2	948	2	NELL1	11	20949942	Missense_Mutation	SNP	G	TCGA-VP-A875-01A-31D-A34U-08		20949942	114056574	29	19913											
GPR84	53831	broad.mit.edu	37	chr12	54756711	54756711	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cccaaattccgatgaagaatCcggagctcttctggctcctt	9	11	8	13	2	2	2	0	1	2	1	5	4	5	3	4	2	1	2	4	2	3	3			TCGA-VP-A875-01A-31D-A34U-08	TCGA-VP-A875-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5f978ce-bc06-49da-99f3-b9064fdbe024	2e305204-80d3-4c7c-b416-3ceb01e18ae0	g.chr12:54756711C>A	ENST00000551809.1	-	1	1560	c.925G>T	c.(925-927)Gat>Tat	p.D309Y	RP11-753H16.5_ENST00000552785.1_RNA|RP11-753H16.3_ENST00000550474.1_RNA|GPR84_ENST00000267015.3_Missense_Mutation_p.D309Y			Q9NQS5	GPR84_HUMAN	G protein-coupled receptor 84	309						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	G-protein coupled receptor activity (GO:0004930)			NS(1)|breast(2)|kidney(2)|large_intestine(6)|lung(5)|skin(1)|urinary_tract(1)	18						GATGAAGAATCCGGAGCTCTT	0.498																																						ENST00000551809.1																			0				NS(1)|breast(2)|kidney(2)|large_intestine(6)|lung(5)|skin(1)|urinary_tract(1)	18						c.(925-927)Gat>Tat		G protein-coupled receptor 84							128	131	130					12																	54756711		2203	4300	6503	SO:0001583	missense	0					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr12:54756711C>A	AF237762	CCDS8878.1	12q13.13	2012-08-20						"GPCR / Class A : Fatty acid receptors"	4535	protein-coding gene	gene with protein product		606383				11273702	Standard	NM_020370		Approved	EX33	uc001sfu.3	Q9NQS5		ENST00000551809.1:c.925G>T	12.37:g.54756711C>A	ENSP00000450310:p.Asp309Tyr					GPR84_ENST00000267015.3_Missense_Mutation_p.D309Y|RP11-753H16.5_ENST00000552785.1_RNA|RP11-753H16.3_ENST00000550474.1_RNA	p.D309Y			Q9NQS5	GPR84_HUMAN			1	1560	-			309					B6V9G7	Missense_Mutation	SNP	ENST00000551809.1	37	c.925G>T	CCDS8878.1	.	.	.	.	.	.	.	.	.	.	C	11.39	1.623991	0.28889	.	.	ENSG00000139572	ENST00000267015;ENST00000551809	T;T	0.38077	1.16;1.16	4.22	3.32	0.38043	GPCR, rhodopsin-like superfamily (1);	0.279835	0.26738	N	0.022746	T	0.45677	0.1354	L	0.47716	1.5	0.42683	D	0.993557	D	0.61697	0.99	P	0.62298	0.9	T	0.36359	-0.9751	10	0.49607	T	0.09	-11.6334	9.823	0.40894	0.0:0.8959:0.0:0.1041	.	309	Q9NQS5	GPR84_HUMAN	Y	309	ENSP00000267015:D309Y;ENSP00000450310:D309Y	ENSP00000267015:D309Y	D	-	1	0	GPR84	53042978	0.219000	0.23619	0.832000	0.32986	0.033000	0.12548	0.672000	0.25187	2.359000	0.80004	0.561000	0.74099	GAT		0.498	GPR84-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406156.1			19	94	1	0	2.35188e-11	1	2.54466e-11	19	94					A	54756711	C	A	54756711	3	1	410	1	0	0	0	0	1	0	0	0	6714	855	30	5	269	5	GPR84	12	54756711	Missense_Mutation	SNP	C	TCGA-VP-A875-01A-31D-A34U-08		54756711	79095184	30	19914											
GCN1L1	10985	broad.mit.edu	37	chr12	120621408	120621408	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tctccttgtcgcttggctctCgatggaaagacaatgcgcac	8	11	10	12	3	2	1	0	0	2	1	5	3	2	2	1	2	1	3	1	2	2	2			TCGA-VP-A875-01A-31D-A34U-08	TCGA-VP-A875-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5f978ce-bc06-49da-99f3-b9064fdbe024	2e305204-80d3-4c7c-b416-3ceb01e18ae0	g.chr12:120621408C>T	ENST00000300648.6	-	5	402	c.390G>A	c.(388-390)tcG>tcA	p.S130S		NM_006836.1	NP_006827	Q92616	GCN1L_HUMAN	GCN1 general control of amino-acid synthesis 1-like 1 (yeast)	130					regulation of translation (GO:0006417)|translation (GO:0006412)	cytoplasm (GO:0005737)|membrane (GO:0016020)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)			NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GCTTGGCTCTCGATGGAAAGA	0.542																																						ENST00000300648.6																			0				NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94						c.(388-390)tcG>tcA		GCN1 general control of amino-acid synthesis 1-like 1 (yeast)							99	102	101					12																	120621408		2115	4253	6368	SO:0001819	synonymous_variant	10985				regulation of translation	ribosome	protein binding|translation factor activity, nucleic acid binding	g.chr12:120621408C>T	U77700	CCDS41847.1	12q24.2	2008-07-03	2001-11-28						4199	protein-coding gene	gene with protein product		605614	"GCN1 (general control of amino-acid synthesis 1, yeast)-like 1"			9234705	Standard	NM_006836		Approved	KIAA0219, GCN1, GCN1L	uc001txo.3	Q92616	OTTHUMG00000169338	ENST00000300648.6:c.390G>A	12.37:g.120621408C>T							p.S130S	NM_006836.1	NP_006827.1	Q92616	GCN1L_HUMAN			5	402	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		130					A8KAY1|O95001|O95651|Q6P2S3|Q86X65|Q8N5I5|Q8WU80|Q99736|Q9UE60	Silent	SNP	ENST00000300648.6	37	c.390G>A	CCDS41847.1																																																																																				0.542	GCN1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403592.1			4	56	0	0	0	1	0	4	56					T	120621408	C	T	120621408	2	4	410	1	0	0	0	0	0	0	0	1	6299	871	31	2		2	GCN1L1	12	120621408	Silent	SNP	C	TCGA-VP-A875-01A-31D-A34U-08	65864697	120621408	13230487	31	19915											
COG3	83548	broad.mit.edu	37	chr13	46050413	46050413	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcagtagtgcctgaatctacAgaagacattctcttgaaggg	12	11	10	8	0	3	4	1	2	2	2	4	4	3	4	1	1	2	1	1	1	5	4			TCGA-VP-A875-01A-31D-A34U-08	TCGA-VP-A875-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5f978ce-bc06-49da-99f3-b9064fdbe024	2e305204-80d3-4c7c-b416-3ceb01e18ae0	g.chr13:46050413A>G	ENST00000349995.5	+	2	364	c.252A>G	c.(250-252)acA>acG	p.T84T		NM_031431.3	NP_113619	Q96JB2	COG3_HUMAN	component of oligomeric golgi complex 3	84					ER to Golgi vesicle-mediated transport (GO:0006888)|intra-Golgi vesicle-mediated transport (GO:0006891)|intracellular protein transport (GO:0006886)|protein glycosylation (GO:0006486)|protein localization to organelle (GO:0033365)|protein stabilization (GO:0050821)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	cis-Golgi network (GO:0005801)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|Golgi transport complex (GO:0017119)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein transporter activity (GO:0008565)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|skin(2)|stomach(1)	24		Lung NSC(96;0.000145)|Breast(56;0.000596)|Prostate(109;0.00438)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000124)		CTGAATCTACAGAAGACATTC	0.408																																					Ovarian(150;1048 1859 18083 21577 42700)	ENST00000349995.5																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|skin(2)|stomach(1)	24						c.(250-252)acA>acG		component of oligomeric golgi complex 3							103	98	100					13																	46050413		2203	4300	6503	SO:0001819	synonymous_variant	83548				ER to Golgi vesicle-mediated transport|intra-Golgi vesicle-mediated transport|intracellular protein transport|protein glycosylation|protein localization to organelle|protein stabilization|retrograde vesicle-mediated transport, Golgi to ER	cis-Golgi network|Golgi cisterna membrane|Golgi transport complex	protein binding|protein transporter activity	g.chr13:46050413A>G	AF131829	CCDS9398.1	13q14.11	2008-02-05			ENSG00000136152	ENSG00000136152		"Components of oligomeric golgi complex"	18619	protein-coding gene	gene with protein product		606975				11980916	Standard	NM_031431		Approved	SEC34	uc001vak.3	Q96JB2	OTTHUMG00000016855	ENST00000349995.5:c.252A>G	13.37:g.46050413A>G							p.T84T	NM_031431.3	NP_113619.2	Q96JB2	COG3_HUMAN	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000124)	2	364	+		Lung NSC(96;0.000145)|Breast(56;0.000596)|Prostate(109;0.00438)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	84					B2RAW5|Q5VT70|Q8IXX4|Q9BZ92	Silent	SNP	ENST00000349995.5	37	c.252A>G	CCDS9398.1																																																																																				0.408	COG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044777.2			3	32	0	0	0	1	0	3	32					G	46050413	A	G	46050413	2	3	410	1	0	0	0	0	0	0	0	1	3659	175	7	4		4	COG3	13	46050413	Silent	SNP	A	TCGA-VP-A875-01A-31D-A34U-08		46050413	69119465	32	19916											
KCNK10	54207	broad.mit.edu	37	chr14	88707090	88707090	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcaaagaaaaaggcactgccGaggtcccagtggctgctgtt	11	7	13	10	1	0	1	0	0	0	1	1	2	1	1	2	3	2	5	2	3	3	1			TCGA-VP-A875-01A-31D-A34U-08	TCGA-VP-A875-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5f978ce-bc06-49da-99f3-b9064fdbe024	2e305204-80d3-4c7c-b416-3ceb01e18ae0	g.chr14:88707090G>A	ENST00000340700.5	-	3	913	c.462C>T	c.(460-462)ctC>ctT	p.L154L	KCNK10_ENST00000312350.5_Silent_p.L159L|KCNK10_ENST00000319231.5_Silent_p.L159L	NM_021161.4	NP_066984.1	P57789	KCNKA_HUMAN	potassium channel, subfamily K, member 10	154					signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transport (GO:0006810)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	potassium channel activity (GO:0005267)|voltage-gated ion channel activity (GO:0005244)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	47						AGGCACTGCCGAGGTCCCAGT	0.478																																						ENST00000340700.5																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	47						c.(460-462)ctC>ctT		potassium channel, subfamily K, member 10							142	127	132					14																	88707090		2203	4300	6503	SO:0001819	synonymous_variant	54207				signal transduction	integral to membrane	potassium channel activity|voltage-gated ion channel activity	g.chr14:88707090G>A	AF279890	CCDS9880.1, CCDS9881.1, CCDS9882.1	14q31	2014-06-12						"Potassium channels", "Voltage-gated ion channels / Potassium channels, Two-P"	6273	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 97"	605873				10880510, 16382106	Standard	NM_021161		Approved	K2p10.1, TREK-2, TREK2, PPP1R97	uc001xwn.3	P57789		ENST00000340700.5:c.462C>T	14.37:g.88707090G>A						KCNK10_ENST00000312350.5_Silent_p.L159L|KCNK10_ENST00000319231.5_Silent_p.L159L	p.L154L	NM_021161.4	NP_066984.1	P57789	KCNKA_HUMAN			3	913	-			154					B2R8T4|B2RCT3|B5TJL4|Q6B014|Q8TDK7|Q8TDK8|Q9HB59	Silent	SNP	ENST00000340700.5	37	c.462C>T	CCDS9880.1																																																																																				0.478	KCNK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410167.1	NM_021161		5	100	0	0	0	1	0	5	100					A	88707090	G	A	88707090	2	1	410	1	0	0	0	0	0	0	0	1	8059	1045	37	2		2	KCNK10	14	88707090	Silent	SNP	G	TCGA-VP-A875-01A-31D-A34U-08		88707090	18642450	33	19917											
BTBD1	53339	broad.mit.edu	37	chr15	83710528	83710528	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggaaccggattaaggaaaGtgcttttcctagaacttttt	11	14	10	6	1	0	1	0	0	0	1	1	4	1	4	2	3	3	1	2	3	5	6			TCGA-VP-A875-01A-31D-A34U-08	TCGA-VP-A875-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5f978ce-bc06-49da-99f3-b9064fdbe024	2e305204-80d3-4c7c-b416-3ceb01e18ae0	g.chr15:83710528G>A	ENST00000261721.4	-	4	1016	c.814C>T	c.(814-816)Ctt>Ttt	p.L272F	RP11-382A20.6_ENST00000568441.1_RNA|BTBD1_ENST00000379403.2_Missense_Mutation_p.L272F|RP11-382A20.7_ENST00000570202.1_RNA|BTBD1_ENST00000560015.1_5'UTR|RP11-382A20.5_ENST00000566841.1_RNA	NM_001011885.1|NM_025238.3	NP_001011885.1|NP_079514.1	Q9H0C5	BTBD1_HUMAN	BTB (POZ) domain containing 1	272					protein ubiquitination (GO:0016567)|regulation of protein binding (GO:0043393)	cytoplasmic mRNA processing body (GO:0000932)|protein complex (GO:0043234)				central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)	10				all cancers(203;0.000186)		ATTAAGGAAAGTGCTTTTCCT	0.388																																						ENST00000261721.4																			0				central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)	10						c.(814-816)Ctt>Ttt		BTB (POZ) domain containing 1							117	118	117					15																	83710528		2203	4300	6503	SO:0001583	missense	53339					cytoplasmic mRNA processing body|protein complex	protein binding	g.chr15:83710528G>A	AF355402	CCDS10322.1, CCDS32313.1	15q24	2013-01-08			ENSG00000064726	ENSG00000064726		"BTB/POZ domain containing"	1120	protein-coding gene	gene with protein product		608530					Standard	XM_006720573		Approved		uc002bjn.3	Q9H0C5	OTTHUMG00000147364	ENST00000261721.4:c.814C>T	15.37:g.83710528G>A	ENSP00000261721:p.Leu272Phe					RP11-382A20.5_ENST00000566841.1_RNA|RP11-382A20.6_ENST00000568441.1_RNA|BTBD1_ENST00000379403.2_Missense_Mutation_p.L272F|BTBD1_ENST00000560015.1_5'UTR|RP11-382A20.7_ENST00000570202.1_RNA	p.L272F	NM_001011885.1|NM_025238.3	NP_001011885.1|NP_079514.1	Q9H0C5	BTBD1_HUMAN		all cancers(203;0.000186)	4	1016	-			272					A6NMI8|Q9BX71|Q9NWN4	Missense_Mutation	SNP	ENST00000261721.4	37	c.814C>T	CCDS10322.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.971865	0.74246	.	.	ENSG00000064726	ENST00000261721;ENST00000379403	T;T	0.77489	-1.1;-1.1	5.62	5.62	0.85841	BTB/Kelch-associated (2);	0.061448	0.64402	D	0.000003	T	0.81341	0.4802	L	0.53561	1.675	0.80722	D	1	B;B	0.29481	0.179;0.245	B;B	0.41202	0.33;0.35	T	0.79502	-0.1777	10	0.56958	D	0.05	-21.3219	19.6517	0.95819	0.0:0.0:1.0:0.0	.	272;272	A6NMI8;Q9H0C5	.;BTBD1_HUMAN	F	272	ENSP00000261721:L272F;ENSP00000368713:L272F	ENSP00000261721:L272F	L	-	1	0	BTBD1	81501532	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.768000	0.85345	2.662000	0.90505	0.655000	0.94253	CTT		0.388	BTBD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000304008.1			23	93	0	0	0	1	0	23	93					A	83710528	G	A	83710528	3	1	410	1	0	0	0	0	1	0	0	0	1537	1029	36	3	654	3	BTBD1	15	83710528	Missense_Mutation	SNP	G	TCGA-VP-A875-01A-31D-A34U-08		83710528	18820864	34	19918											
TPSAB1	7177	broad.mit.edu	37	chr16	1291438	1291438	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatcctccgctgcccagggaCgtcaaggatctggccgccct	6	7	12	16	3	2	0	1	0	1	0	4	3	4	2	5	3	1	1	5	3	1	0			TCGA-VP-A875-01A-31D-A34U-08	TCGA-VP-A875-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5f978ce-bc06-49da-99f3-b9064fdbe024	2e305204-80d3-4c7c-b416-3ceb01e18ae0	g.chr16:1291438C>T	ENST00000338844.3	+	4	270	c.237C>T	c.(235-237)gaC>gaT	p.D79D	TPSAB1_ENST00000461509.2_Silent_p.D86D	NM_003294.3	NP_003285.2	Q15661	TRYB1_HUMAN	tryptase alpha/beta 1	79	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				defense response (GO:0006952)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			NS(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(4)|skin(1)	10		Hepatocellular(780;0.00369)				TGCCCAGGGACGTCAAGGATC	0.687																																						ENST00000461509.2																			0				NS(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(4)|skin(1)	10						c.(256-258)gaC>gaT		tryptase alpha/beta 1							7	8	8					16																	1291438		2040	4061	6101	SO:0001819	synonymous_variant	7177				proteolysis	extracellular region	protein binding|serine-type endopeptidase activity	g.chr16:1291438C>T	M33494	CCDS10431.1	16p13.3	2009-11-13	2004-10-14	2004-10-15	ENSG00000172236	ENSG00000172236			12019	protein-coding gene	gene with protein product	"tryptase alpha II", "tryptase beta I", "tryptase-I", "tryptase-II", "tryptase-III"	191080	"tryptase beta 1"	TPSB1, TPS1, TPS2		2203827, 9920877	Standard	NM_003294		Approved		uc002ckz.3	Q15661	OTTHUMG00000090467	ENST00000338844.3:c.237C>T	16.37:g.1291438C>T						TPSAB1_ENST00000338844.3_Silent_p.D79D	p.D86D			P20231	TRYB2_HUMAN			3	452	+		Hepatocellular(780;0.00369)	79			Peptidase S1.		D2E6R9|D2E6S1|P15157|Q15663|Q6B052|Q9H2Y4|Q9H2Y5|Q9UQI1	Silent	SNP	ENST00000338844.3	37	c.258C>T	CCDS10431.1																																																																																				0.687	TPSAB1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000206914.1	NM_003294		3	13	0	0	0	1	0	3	13					T	1291438	C	T	1291438	2	4	410	1	0	0	0	0	0	0	0	1	16420	535	19	1		1	TPSAB1	16	1291438	Silent	SNP	C	TCGA-VP-A875-01A-31D-A34U-08		1291438	89063315	35	19919											
C16orf59	80178	broad.mit.edu	37	chr16	2512433	2512433	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagtcaggcgggccccagccCaggctcagtgctgtggaggt	6	6	16	13	1	2	0	2	0	0	0	2	1	2	1	3	5	2	2	3	5	0	0			TCGA-VP-A875-01A-31D-A34U-08	TCGA-VP-A875-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5f978ce-bc06-49da-99f3-b9064fdbe024	2e305204-80d3-4c7c-b416-3ceb01e18ae0	g.chr16:2512433C>T	ENST00000361837.4	+	7	833	c.768C>T	c.(766-768)ccC>ccT	p.P256P	C16orf59_ENST00000569496.1_Silent_p.P256P|C16orf59_ENST00000483320.1_Silent_p.P89P|RP11-715J22.2_ENST00000563775.1_RNA|RP11-715J22.4_ENST00000566085.1_lincRNA|C16orf59_ENST00000563531.1_Silent_p.P256P	NM_025108.2	NP_079384.2	Q7L2K0	CP059_HUMAN	chromosome 16 open reading frame 59	256										lung(1)|skin(1)|urinary_tract(1)	3		Ovarian(90;0.17)				GGCCCCAGCCCAGGCTCAGTG	0.682																																						ENST00000569496.1																			0				lung(1)|skin(1)|urinary_tract(1)	3						c.(766-768)ccC>ccT		chromosome 16 open reading frame 59							21	26	25					16																	2512433		1999	4132	6131	SO:0001819	synonymous_variant	80178							g.chr16:2512433C>T	AK023971	CCDS10468.2	16p13.3	2008-10-30			ENSG00000162062	ENSG00000162062			25849	protein-coding gene	gene with protein product						12477932	Standard	XM_006720955		Approved	FLJ13909	uc002cqh.3	Q7L2K0	OTTHUMG00000128859	ENST00000361837.4:c.768C>T	16.37:g.2512433C>T						C16orf59_ENST00000563531.1_Silent_p.P256P|C16orf59_ENST00000483320.1_Silent_p.P89P|C16orf59_ENST00000361837.4_Silent_p.P256P	p.P256P			Q7L2K0	CP059_HUMAN			7	827	+		Ovarian(90;0.17)	256					B4DXD7|Q96H61|Q9H872	Silent	SNP	ENST00000361837.4	37	c.768C>T	CCDS10468.2																																																																																				0.682	C16orf59-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250802.3	NM_025108		3	22	0	0	0	1	0	3	22					T	2512433	C	T	2512433	2	4	410	1	0	0	0	0	0	0	0	1	1823	581	21	3		3	C16orf59	16	2512433	Silent	SNP	C	TCGA-VP-A875-01A-31D-A34U-08	1220995	2512433	87842320	36	19920											
SEC14L5	9717	broad.mit.edu	37	chr16	5058605	5058605	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctgggcagggattacagcCgtgtggaggctccccttgtc	5	10	14	12	1	0	0	0	0	0	0	3	2	2	2	4	4	2	2	4	4	1	2	rs202231927		TCGA-VP-A875-01A-31D-A34U-08	TCGA-VP-A875-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5f978ce-bc06-49da-99f3-b9064fdbe024	2e305204-80d3-4c7c-b416-3ceb01e18ae0	g.chr16:5058605C>T	ENST00000251170.7	+	14	1936	c.1756C>T	c.(1756-1758)Cgt>Tgt	p.R586C	RP11-165E7.1_ENST00000588778.1_RNA	NM_014692.1	NP_055507.1	O43304	S14L5_HUMAN	SEC14-like 5 (S. cerevisiae)	586	GOLD. {ECO:0000255|PROSITE- ProRule:PRU00096}.					integral component of membrane (GO:0016021)|intracellular (GO:0005622)	transporter activity (GO:0005215)	p.R586C(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|skin(1)	29						GGATTACAGCCGTGTGGAGGC	0.652																																						ENST00000251170.7																			1	Substitution - Missense(1)	p.R586C(1)	skin(1)	NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|skin(1)	29						c.(1756-1758)Cgt>Tgt		SEC14-like 5 (S. cerevisiae)		C	CYS/ARG	0,3862		0,0,1931	47	55	53		1756	2.8	0.3	16		53	1,8253		0,1,4126	no	missense	SEC14L5	NM_014692.1	180	0,1,6057	TT,TC,CC		0.0121,0.0,0.0083	benign	586/697	5058605	1,12115	1931	4127	6058	SO:0001583	missense	9717					integral to membrane|intracellular	transporter activity	g.chr16:5058605C>T	AB007880	CCDS45403.1	16p13.3	2008-02-05				ENSG00000103184			29032	protein-coding gene	gene with protein product						9455477	Standard	NM_014692		Approved	KIAA0420, PRELID4B	uc002cye.2	O43304		ENST00000251170.7:c.1756C>T	16.37:g.5058605C>T	ENSP00000251170:p.Arg586Cys						p.R586C	NM_014692.1	NP_055507.1	O43304	S14L5_HUMAN			14	1936	+			586			GOLD.			Missense_Mutation	SNP	ENST00000251170.7	37	c.1756C>T	CCDS45403.1	.	.	.	.	.	.	.	.	.	.	c	12.59	1.983435	0.35036	0.0	1.21E-4	ENSG00000103184	ENST00000251170	T	0.51817	0.69	4.75	2.8	0.32819	GOLD (2);	0.410930	0.21624	N	0.071592	T	0.36054	0.0953	L	0.43701	1.375	0.58432	D	0.999998	B	0.17268	0.021	B	0.13407	0.009	T	0.19353	-1.0308	10	0.59425	D	0.04	-0.1631	6.0497	0.19779	0.1506:0.6928:0.0:0.1566	.	586	O43304	S14L5_HUMAN	C	586	ENSP00000251170:R586C	ENSP00000251170:R586C	R	+	1	0	SEC14L5	4998606	0.994000	0.37717	0.319000	0.25293	0.762000	0.43233	1.482000	0.35486	0.622000	0.30249	0.556000	0.70494	CGT		0.652	SEC14L5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434379.1			8	42	0	0	0	1	0	8	42					T	5058605	C	T	5058605	3	4	410	1	0	0	0	0	1	0	0	0	13985	652	23	2	1806	2	SEC14L5	16	5058605	Missense_Mutation	SNP	C	TCGA-VP-A875-01A-31D-A34U-08	2546172	5058605	85296148	37	19921											
A2BP1	54715	broad.mit.edu	37	chr16	7647415	7647415	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taatgacaaataaaaagaccGtcaacccttatacaaatggt	19	9	5	8	1	1	2	1	1	0	1	1	2	1	2	2	1	2	0	2	1	9	4			TCGA-VP-A875-01A-31D-A34U-08	TCGA-VP-A875-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5f978ce-bc06-49da-99f3-b9064fdbe024	2e305204-80d3-4c7c-b416-3ceb01e18ae0	g.chr16:7647415G>A	ENST00000550418.1	+	9	1592	c.604G>A	c.(604-606)Gtc>Atc	p.V202I	RBFOX1_ENST00000340209.4_Missense_Mutation_p.V207I|RBFOX1_ENST00000547372.1_Missense_Mutation_p.V245I|RBFOX1_ENST00000547338.1_Missense_Mutation_p.V202I|RBFOX1_ENST00000553186.1_Missense_Mutation_p.V202I|RBFOX1_ENST00000436368.2_Missense_Mutation_p.V222I|RBFOX1_ENST00000552089.1_Missense_Mutation_p.V219I|RBFOX1_ENST00000311745.5_Missense_Mutation_p.V222I|RBFOX1_ENST00000535565.2_Missense_Mutation_p.V159I|RBFOX1_ENST00000355637.4_Missense_Mutation_p.V222I|RBFOX1_ENST00000422070.4_Missense_Mutation_p.V245I	NM_018723.3	NP_061193.2	Q9NWB1	RFOX1_HUMAN	RNA binding protein, fox-1 homolog (C. elegans) 1	202					mRNA processing (GO:0006397)|neuromuscular process controlling balance (GO:0050885)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)|RNA transport (GO:0050658)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	nucleotide binding (GO:0000166)|protein C-terminus binding (GO:0008022)|RNA binding (GO:0003723)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|lung(17)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)	55						TAAAAAGACCGTCAACCCTTA	0.348																																					Ovarian(157;934 2567 15163 39509)	ENST00000340209.4																			0				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|lung(17)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)	55						c.(619-621)Gtc>Atc		RNA binding protein, fox-1 homolog (C. elegans) 1							103	95	97					16																	7647415		2197	4300	6497	SO:0001583	missense	54715				mRNA processing|RNA splicing|RNA transport	nucleus|trans-Golgi network	nucleotide binding|protein C-terminus binding|RNA binding	g.chr16:7647415G>A	AF107203	CCDS10531.1, CCDS10532.1, CCDS45405.1, CCDS55983.1, CCDS55984.1	16p13.3	2013-02-12			ENSG00000078328	ENSG00000078328		"RNA binding motif (RRM) containing"	18222	protein-coding gene	gene with protein product	"ataxin 2-binding protein 1", "hexaribonucleotide binding protein 1"	605104				10814712, 16260614	Standard	NM_018723		Approved	A2BP1, FOX-1, HRNBP1	uc002cyy.2	Q9NWB1	OTTHUMG00000129551	ENST00000550418.1:c.604G>A	16.37:g.7647415G>A	ENSP00000450031:p.Val202Ile					RBFOX1_ENST00000547338.1_Missense_Mutation_p.V202I|RBFOX1_ENST00000355637.4_Missense_Mutation_p.V222I|RBFOX1_ENST00000553186.1_Missense_Mutation_p.V202I|RBFOX1_ENST00000436368.2_Missense_Mutation_p.V222I|RBFOX1_ENST00000547372.1_Missense_Mutation_p.V245I|RBFOX1_ENST00000535565.2_Missense_Mutation_p.V159I|RBFOX1_ENST00000550418.1_Missense_Mutation_p.V202I|RBFOX1_ENST00000552089.1_Missense_Mutation_p.V219I|RBFOX1_ENST00000311745.5_Missense_Mutation_p.V222I|RBFOX1_ENST00000422070.4_Missense_Mutation_p.V245I	p.V207I			Q9NWB1	RFOX1_HUMAN			6	916	+			202					Q7Z7I7|Q8TAE3|Q8TAF2|Q8WYB2|Q9NS20	Missense_Mutation	SNP	ENST00000550418.1	37	c.619G>A	CCDS55983.1	.	.	.	.	.	.	.	.	.	.	G	12.51	1.958803	0.34565	.	.	ENSG00000078328	ENST00000547605;ENST00000550418;ENST00000553186;ENST00000547372;ENST00000422070;ENST00000535565;ENST00000552089;ENST00000551752;ENST00000547338;ENST00000436368;ENST00000311745;ENST00000355637;ENST00000352951;ENST00000340209	T;T;T;T;T;T;T;T;T;T;T	0.33438	1.91;1.43;1.81;1.7;1.71;1.83;1.43;1.49;1.69;1.7;1.41	5.96	5.0	0.66597	.	0.062078	0.64402	D	0.000004	T	0.39886	0.1095	L	0.46157	1.445	0.53688	D	0.999979	P;D;P;P;P;D;P;P;P	0.67145	0.527;0.996;0.956;0.882;0.898;0.963;0.864;0.786;0.86	B;P;B;B;B;P;B;B;P	0.56648	0.23;0.803;0.195;0.356;0.388;0.462;0.206;0.102;0.459	T	0.10753	-1.0616	10	0.30078	T	0.28	-9.6997	12.1821	0.54218	0.0:0.1298:0.7351:0.1351	.	222;159;245;222;222;222;202;202;245	F8WAC5;F5H0M1;B7Z1U7;Q9NWB1-2;Q9NWB1-4;Q9NWB1-5;Q9NWB1-3;Q9NWB1;F8VZG9	.;.;.;.;.;.;.;RFOX1_HUMAN;.	I	201;202;202;245;245;159;219;202;202;222;222;222;222;207	ENSP00000450402:V201I;ENSP00000450031:V202I;ENSP00000447753:V202I;ENSP00000446842:V245I;ENSP00000391269:V245I;ENSP00000447281:V202I;ENSP00000447717:V202I;ENSP00000402745:V222I;ENSP00000309117:V222I;ENSP00000347855:V222I;ENSP00000344196:V207I	ENSP00000309117:V222I	V	+	1	0	RBFOX1	7587416	1.000000	0.71417	0.939000	0.37840	0.991000	0.79684	5.414000	0.66405	1.522000	0.49001	0.655000	0.94253	GTC		0.348	RBFOX1-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000409492.2	NM_145891		6	78	0	0	0	1	0	6	78					A	7647415	G	A	7647415	3	1	410	1	0	0	0	0	1	0	0	0	3	1145	40	1	717	1	A2BP1	16	7647415	Missense_Mutation	SNP	G	TCGA-VP-A875-01A-31D-A34U-08	2588810	7647415	82707338	38	19922											
SF3B3	23450	broad.mit.edu	37	chr16	70569246	70569246	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atggtccaagtggagtactgAtctgctctgaaaactatatt	12	13	9	7	0	2	2	0	2	2	0	3	3	3	3	1	2	3	2	1	2	6	4			TCGA-VP-A875-01A-31D-A34U-08	TCGA-VP-A875-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5f978ce-bc06-49da-99f3-b9064fdbe024	2e305204-80d3-4c7c-b416-3ceb01e18ae0	g.chr16:70569246A>T	ENST00000302516.5	+	6	959	c.748A>T	c.(748-750)Atc>Ttc	p.I250F	SNORD111_ENST00000408139.1_RNA	NM_012426.4	NP_036558.3	Q15393	SF3B3_HUMAN	splicing factor 3b, subunit 3, 130kDa	250					gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|protein complex assembly (GO:0006461)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|nucleoplasm (GO:0005654)|small nuclear ribonucleoprotein complex (GO:0030532)|spliceosomal complex (GO:0005681)|U12-type spliceosomal complex (GO:0005689)	nucleic acid binding (GO:0003676)			breast(2)|endometrium(8)|kidney(2)|large_intestine(8)|liver(3)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	53		Ovarian(137;0.0694)				TGGAGTACTGATCTGCTCTGA	0.418																																						ENST00000302516.5																			0				breast(2)|endometrium(8)|kidney(2)|large_intestine(8)|liver(3)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	53						c.(748-750)Atc>Ttc		splicing factor 3b, subunit 3, 130kDa							212	217	215					16																	70569246		2198	4300	6498	SO:0001583	missense	23450				protein complex assembly	catalytic step 2 spliceosome|nucleoplasm|small nuclear ribonucleoprotein complex|U12-type spliceosomal complex	nucleic acid binding|protein binding	g.chr16:70569246A>T	AJ001443	CCDS10894.1	16q22	2008-08-01	2002-08-29		ENSG00000189091	ENSG00000189091			10770	protein-coding gene	gene with protein product		605592	"splicing factor 3b, subunit 3, 130kD"			10490618	Standard	NM_012426		Approved	SAP130, SF3b130, RSE1, KIAA0017	uc002ezf.3	Q15393	OTTHUMG00000137582	ENST00000302516.5:c.748A>T	16.37:g.70569246A>T	ENSP00000305790:p.Ile250Phe						p.I250F	NM_012426.4	NP_036558.3	Q15393	SF3B3_HUMAN			6	959	+		Ovarian(137;0.0694)	250					Q6NTI8|Q96GC0|Q9BPY2|Q9UFX7|Q9UJ29	Missense_Mutation	SNP	ENST00000302516.5	37	c.748A>T	CCDS10894.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	26.7|26.7	4.764754|4.764754	0.90020|0.90020	.|.	.|.	ENSG00000189091|ENSG00000189091	ENST00000310750|ENST00000302516	.|T	.|0.51817	.|0.69	4.84|4.84	4.84|4.84	0.62591|0.62591	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	.|T	.|0.60907	.|0.2305	M|M	0.68952|0.68952	2.095|2.095	0.80722|0.80722	D|D	1|1	.|P	.|0.40553	.|0.721	.|P	.|0.52267	.|0.694	.|T	.|0.65541	.|-0.6143	.|10	.|0.87932	.|D	.|0	.|.	14.4039|14.4039	0.67068|0.67068	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|250	.|Q15393	.|SF3B3_HUMAN	.|F	-1|250	.|ENSP00000305790:I250F	.|ENSP00000305790:I250F	.|I	+|+	.|1	.|0	SF3B3|SF3B3	69126747|69126747	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	9.339000|9.339000	0.96797|0.96797	1.813000|1.813000	0.52934|0.52934	0.397000|0.397000	0.26171|0.26171	.|ATC		0.418	SF3B3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268972.1	NM_012426		6	190	0	0	0	1	0	6	190					T	70569246	A	T	70569246	3	4	410	1	0	0	0	0	1	0	0	0	14152	333	12	5	766	5	SF3B3	16	70569246	Missense_Mutation	SNP	A	TCGA-VP-A875-01A-31D-A34U-08	62921831	70569246	19785507	39	19923											
PER1	5187	broad.mit.edu	37	chr17	8045265	8045265	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gatcctgcttcagcacagagGtcatgtccctgcccaagaag	10	8	10	13	0	2	2	2	0	0	2	4	3	4	2	3	1	3	2	3	1	2	1			TCGA-VP-A875-01A-31D-A34U-08	TCGA-VP-A875-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5f978ce-bc06-49da-99f3-b9064fdbe024	2e305204-80d3-4c7c-b416-3ceb01e18ae0	g.chr17:8045265G>A	ENST00000317276.4	-	22	3695	c.3458C>T	c.(3457-3459)aCc>aTc	p.T1153I	PER1_ENST00000578089.1_5'Flank|PER1_ENST00000581082.1_Missense_Mutation_p.T1130I	NM_002616.2	NP_002607.2	O15534	PER1_HUMAN	period circadian clock 1	1153	CRY binding domain. {ECO:0000250}.				circadian regulation of gene expression (GO:0032922)|circadian regulation of translation (GO:0097167)|circadian rhythm (GO:0007623)|entrainment of circadian clock (GO:0009649)|entrainment of circadian clock by photoperiod (GO:0043153)|histone H3 acetylation (GO:0043966)|histone H3 deacetylation (GO:0070932)|histone H4 acetylation (GO:0043967)|negative regulation of glucocorticoid receptor signaling pathway (GO:2000323)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of JNK cascade (GO:0046329)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|posttranscriptional regulation of gene expression (GO:0010608)|regulation of circadian rhythm (GO:0042752)|regulation of cytokine production involved in inflammatory response (GO:1900015)|regulation of hair cycle (GO:0042634)|regulation of p38MAPK cascade (GO:1900744)|regulation of sodium ion transport (GO:0002028)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|E-box binding (GO:0070888)|kinase binding (GO:0019900)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|signal transducer activity (GO:0004871)|transcription factor binding transcription factor activity (GO:0000989)|ubiquitin protein ligase binding (GO:0031625)			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(15)|ovary(4)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						CAGCACAGAGGTCATGTCCCT	0.622			T	ETV6	"AML, CMML"			Other conserved DNA damage response genes																														ENST00000317276.4				Dom	yes		17	17p13.1-17p12	5187	T	period homolog 1 (Drosophila)			L	ETV6		"AML, CMML"		0				breast(4)|central_nervous_system(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(15)|ovary(4)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						c.(3457-3459)aCc>aTc	Other conserved DNA damage response genes	period circadian clock 1							44	46	45					17																	8045265		2203	4300	6503	SO:0001583	missense	5187				circadian rhythm|entrainment of circadian clock|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	signal transducer activity	g.chr17:8045265G>A	AB002107	CCDS11131.1	17p13.1	2012-12-13	2012-12-13			ENSG00000179094			8845	protein-coding gene	gene with protein product		602260	"period (Drosophila) homolog 1", "period homolog 1 (Drosophila)"	PER		9323128	Standard	NM_002616		Approved	RIGUI	uc002gkd.3	O15534		ENST00000317276.4:c.3458C>T	17.37:g.8045265G>A	ENSP00000314420:p.Thr1153Ile					PER1_ENST00000581082.1_Missense_Mutation_p.T1130I	p.T1153I	NM_002616.2	NP_002607.2	O15534	PER1_HUMAN			22	3695	-			1153			CRY binding domain (By similarity).		B2RPA8|B4DI49|D3DTR3	Missense_Mutation	SNP	ENST00000317276.4	37	c.3458C>T	CCDS11131.1	.	.	.	.	.	.	.	.	.	.	G	16.99	3.274201	0.59649	.	.	ENSG00000179094	ENST00000317276	T	0.14022	2.54	5.67	4.64	0.57946	Period circadian-like, C-terminal (1);	0.241197	0.38663	N	0.001608	T	0.07773	0.0195	N	0.08118	0	0.80722	D	1	P;B	0.35226	0.491;0.111	B;B	0.34652	0.187;0.023	T	0.19128	-1.0315	10	0.87932	D	0	-14.5649	10.9962	0.47578	0.0:0.0:0.7034:0.2966	.	1144;1153	A2I2P6;O15534	.;PER1_HUMAN	I	1153	ENSP00000314420:T1153I	ENSP00000314420:T1153I	T	-	2	0	PER1	7985990	0.999000	0.42202	1.000000	0.80357	0.976000	0.68499	3.526000	0.53509	2.697000	0.92050	0.655000	0.94253	ACC		0.622	PER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441481.2			5	40	0	0	0	1	0	5	40					A	8045265	G	A	8045265	3	1	410	1	0	0	0	0	1	0	0	0	11729	1261	44	3	422	3	PER1	17	8045265	Missense_Mutation	SNP	G	TCGA-VP-A875-01A-31D-A34U-08		8045265	73149945	40	19924											
AKAP1	8165	broad.mit.edu	37	chr17	55197639	55197639	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gataaaccggtccctggtggAgcgaggccttgcccagtggg	7	7	16	11	2	0	0	0	0	0	0	1	3	1	1	4	5	3	0	4	5	2	2			TCGA-VP-A875-01A-31D-A34U-08	TCGA-VP-A875-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5f978ce-bc06-49da-99f3-b9064fdbe024	2e305204-80d3-4c7c-b416-3ceb01e18ae0	g.chr17:55197639A>G	ENST00000337714.3	+	11	2899	c.2666A>G	c.(2665-2667)gAg>gGg	p.E889G	AKAP1_ENST00000539273.1_Missense_Mutation_p.E889G|AKAP1_ENST00000571629.1_Missense_Mutation_p.E889G|AKAP1_ENST00000572557.1_Missense_Mutation_p.E889G	NM_003488.3	NP_003479.1	Q92667	AKAP1_HUMAN	A kinase (PRKA) anchor protein 1	889					blood coagulation (GO:0007596)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(2)|liver(1)|lung(7)|ovary(2)|pancreas(1)|skin(1)	14	Breast(9;5.46e-08)					TCCCTGGTGGAGCGAGGCCTT	0.512																																						ENST00000337714.3																			0				endometrium(2)|liver(1)|lung(7)|ovary(2)|pancreas(1)|skin(1)	14						c.(2665-2667)gAg>gGg		A kinase (PRKA) anchor protein 1							160	133	142					17																	55197639		2203	4300	6503	SO:0001583	missense	8165				blood coagulation	cytosol|integral to membrane|mitochondrial outer membrane	protein binding|RNA binding	g.chr17:55197639A>G	X97335	CCDS11594.1	17q22	2013-01-23			ENSG00000121057	ENSG00000121057		"A-kinase anchor proteins", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "Tudor domain containing"	367	protein-coding gene	gene with protein product	"protein kinase anchoring protein 1", "dual specificity A-kinase-anchoring protein 1", "protein phosphatase 1, regulatory subunit 43", "tudor domain containing 17"	602449		PRKA1		8769136, 7499250	Standard	NM_003488		Approved	AKAP121, AKAP149, SAKAP84, S-AKAP84, AKAP84, D-AKAP1, PPP1R43, TDRD17	uc002iux.3	Q92667	OTTHUMG00000140369	ENST00000337714.3:c.2666A>G	17.37:g.55197639A>G	ENSP00000337736:p.Glu889Gly					AKAP1_ENST00000539273.1_Missense_Mutation_p.E889G|AKAP1_ENST00000571629.1_Missense_Mutation_p.E889G|AKAP1_ENST00000572557.1_Missense_Mutation_p.E889G	p.E889G	NM_003488.3	NP_003479.1	Q92667	AKAP1_HUMAN			11	2899	+	Breast(9;5.46e-08)		889					A8K8Q1|D3DTZ0|Q13320|Q9BW14	Missense_Mutation	SNP	ENST00000337714.3	37	c.2666A>G	CCDS11594.1	.	.	.	.	.	.	.	.	.	.	A	16.13	3.035431	0.54896	.	.	ENSG00000121057	ENST00000337714;ENST00000427138;ENST00000539273	T;T	0.18502	2.21;2.21	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	T	0.33411	0.0862	L	0.41236	1.265	0.80722	D	1	D	0.89917	1.0	D	0.71184	0.972	T	0.03103	-1.1072	10	0.72032	D	0.01	-30.4203	15.3314	0.74215	1.0:0.0:0.0:0.0	.	889	Q92667	AKAP1_HUMAN	G	889;931;889	ENSP00000337736:E889G;ENSP00000443139:E889G	ENSP00000337736:E889G	E	+	2	0	AKAP1	52552638	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	8.304000	0.89958	2.224000	0.72417	0.533000	0.62120	GAG		0.512	AKAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277069.1			19	16	0	0	0	1	0	19	16					G	55197639	A	G	55197639	3	3	410	1	0	0	0	0	1	0	0	0	445	304	11	4	2704	4	AKAP1	17	55197639	Missense_Mutation	SNP	A	TCGA-VP-A875-01A-31D-A34U-08	47152374	55197639	25997571	41	19925											
AFG3L2	10939	broad.mit.edu	37	chr18	12360038	12360038	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtccacactgccaatattaaAccaaacgtattgctataaaa	17	10	4	10	1	0	0	0	0	0	0	1	0	1	0	3	0	4	2	3	0	9	6			TCGA-VP-A875-01A-31D-A34U-08	TCGA-VP-A875-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5f978ce-bc06-49da-99f3-b9064fdbe024	2e305204-80d3-4c7c-b416-3ceb01e18ae0	g.chr18:12360038A>G	ENST00000269143.3	-	7	871	c.640T>C	c.(640-642)Ttt>Ctt	p.F214L		NM_006796.2	NP_006787.2	Q9Y4W6	AFG32_HUMAN	AFG3-like AAA ATPase 2	214					axonogenesis (GO:0007409)|cell death (GO:0008219)|cristae formation (GO:0042407)|mitochondrial fusion (GO:0008053)|mitochondrial protein processing (GO:0034982)|muscle fiber development (GO:0048747)|myelination (GO:0042552)|nerve development (GO:0021675)|neuromuscular junction development (GO:0007528)|regulation of multicellular organism growth (GO:0040014)|righting reflex (GO:0060013)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|metalloendopeptidase activity (GO:0004222)|unfolded protein binding (GO:0051082)|zinc ion binding (GO:0008270)			NS(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(12)|prostate(3)|skin(1)|stomach(3)|urinary_tract(1)	27					Adenosine triphosphate(DB00171)	CCAATATTAAACCAAACGTAT	0.353																																						ENST00000269143.3																			0				NS(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(12)|prostate(3)|skin(1)|stomach(3)|urinary_tract(1)	27						c.(640-642)Ttt>Ctt		AFG3-like AAA ATPase 2	Adenosine triphosphate(DB00171)						80	74	76					18																	12360038		2203	4300	6503	SO:0001583	missense	10939				cell death|protein catabolic process|proteolysis	integral to membrane	ATP binding|metalloendopeptidase activity|nucleoside-triphosphatase activity|unfolded protein binding|zinc ion binding	g.chr18:12360038A>G	Y18314	CCDS11859.1	18p11.21	2014-09-17	2013-10-17		ENSG00000141385	ENSG00000141385		"ATPases / AAA-type"	315	protein-coding gene	gene with protein product		604581	"AFG3 (ATPase family gene 3, yeast)-like 2", "spinocerebellar ataxia 28", "AFG3 ATPase family gene 3-like 2 (yeast)", "AFG3 ATPase family gene 3-like 2 (S. cerevisiae)", "AFG3 ATPase family member 3-like 2 (S. cerevisiae)"	SCA28		10395799, 18769991	Standard	NM_006796		Approved	SPAX5	uc002kqz.2	Q9Y4W6	OTTHUMG00000131695	ENST00000269143.3:c.640T>C	18.37:g.12360038A>G	ENSP00000269143:p.Phe214Leu						p.F214L	NM_006796.2	NP_006787.2	Q9Y4W6	AFG32_HUMAN			7	871	-			214					Q6P1L0	Missense_Mutation	SNP	ENST00000269143.3	37	c.640T>C	CCDS11859.1	.	.	.	.	.	.	.	.	.	.	A	28.6	4.935785	0.92458	.	.	ENSG00000141385	ENST00000269143;ENST00000537174	T	0.77098	-1.07	4.87	4.87	0.63330	Peptidase M41, FtsH extracellular (1);Peptidase M41, FtsH (1);	0.000000	0.85682	D	0.000000	D	0.89722	0.6797	M	0.90252	3.1	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.91681	0.5358	10	0.62326	D	0.03	.	14.7671	0.69648	1.0:0.0:0.0:0.0	.	214	Q9Y4W6	AFG32_HUMAN	L	214;229	ENSP00000269143:F214L	ENSP00000269143:F214L	F	-	1	0	AFG3L2	12350038	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.962000	0.93254	1.949000	0.56562	0.533000	0.62120	TTT		0.353	AFG3L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254603.2	NM_006796		10	39	0	0	0	1	0	10	39					G	12360038	A	G	12360038	3	3	410	1	0	0	0	0	1	0	0	0	360	43	2	4	1797	4	AFG3L2	18	12360038	Missense_Mutation	SNP	A	TCGA-VP-A875-01A-31D-A34U-08		12360038	65717210	42	19926											
TMEM90B	79953	broad.mit.edu	37	chr20	24524025	24524025	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcatcctctattcagagggcGtgctgcgctcctggggggac	5	10	14	12	2	3	1	2	0	1	1	5	2	5	2	2	4	2	2	2	4	1	2	rs139628724	byFrequency	TCGA-VP-A875-01A-31D-A34U-08	TCGA-VP-A875-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5f978ce-bc06-49da-99f3-b9064fdbe024	2e305204-80d3-4c7c-b416-3ceb01e18ae0	g.chr20:24524025G>A	ENST00000376862.3	+	2	925	c.292G>A	c.(292-294)Gtg>Atg	p.V98M		NM_024893.1	NP_079169.1	Q9H7V2	SYNG1_HUMAN	synapse differentiation inducing 1	98					intracellular protein transport (GO:0006886)|positive regulation of synapse assembly (GO:0051965)|response to biotic stimulus (GO:0009607)|synaptic vesicle clustering (GO:0097091)	cell body (GO:0044297)|cell junction (GO:0030054)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|early endosome membrane (GO:0031901)|excitatory synapse (GO:0060076)|integral component of plasma membrane (GO:0005887)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	glutamate receptor binding (GO:0035254)|protein homodimerization activity (GO:0042803)	p.V98M(2)		breast(2)|endometrium(1)|large_intestine(3)|lung(14)|prostate(1)|skin(3)	24						TTCAGAGGGCGTGCTGCGCTC	0.652													G|||	10	0.00199681	0.0045	0.0014	5008	,	,		16776	0		0.003	False		,,,				2504	0					ENST00000376862.3																			2	Substitution - Missense(2)	p.V98M(2)	lung(2)	breast(2)|endometrium(1)|large_intestine(3)|lung(14)|prostate(1)|skin(3)	24						c.(292-294)Gtg>Atg		synapse differentiation inducing 1		G	MET/VAL	15,4391	22.3+/-47.3	0,15,2188	57	56	56		292	0.3	0	20	dbSNP_134	56	1,8599	1.2+/-3.3	0,1,4299	yes	missense	SYNDIG1	NM_024893.1	21	0,16,6487	AA,AG,GG		0.0116,0.3404,0.123	probably-damaging	98/259	24524025	16,12990	2203	4300	6503	SO:0001583	missense	79953				response to biotic stimulus	early endosome membrane|integral to membrane|plasma membrane		g.chr20:24524025G>A	AK024282	CCDS13164.1	20p11.21	2011-06-30	2011-06-30	2011-06-30	ENSG00000101463	ENSG00000101463			15885	protein-coding gene	gene with protein product	"interferon induced transmembrane protein domain containing 5", "synapse differentiation induced gene 1"	614311	"chromosome 20 open reading frame 39", "transmembrane protein 90B"	C20orf39, TMEM90B		20152115	Standard	NM_024893		Approved	FLJ14220, IFITMD5, SynDIG1	uc002wtw.1	Q9H7V2	OTTHUMG00000032104	ENST00000376862.3:c.292G>A	20.37:g.24524025G>A	ENSP00000366058:p.Val98Met						p.V98M	NM_024893.1	NP_079169.1	Q9H7V2	SYNG1_HUMAN			2	925	+			98					Q6IA30|Q9H514	Missense_Mutation	SNP	ENST00000376862.3	37	c.292G>A	CCDS13164.1	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	G	9.143	1.014253	0.19277	0.003404	1.16E-4	ENSG00000101463	ENST00000376862	D	0.91068	-2.78	5.95	0.329	0.15924	.	0.379543	0.26213	N	0.025661	D	0.86138	0.5861	M	0.66939	2.045	0.37062	D	0.898114	B	0.22480	0.07	B	0.13407	0.009	T	0.77504	-0.2563	10	0.49607	T	0.09	-8.0338	6.5814	0.22596	0.2197:0.1359:0.6445:0.0	.	98	Q9H7V2	SYNG1_HUMAN	M	98	ENSP00000366058:V98M	ENSP00000366058:V98M	V	+	1	0	SYNDIG1	24472025	0.000000	0.05858	0.045000	0.18777	0.482000	0.33219	-0.700000	0.05081	-0.197000	0.10350	-0.211000	0.12701	GTG		0.652	SYNDIG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078376.1	NM_024893		11	55	0	0	0	1	0	11	55					A	24524025	G	A	24524025	3	1	410	1	0	0	0	0	1	0	0	0	16216	1145	40	1	294	1	TMEM90B	20	24524025	Missense_Mutation	SNP	G	TCGA-VP-A875-01A-31D-A34U-08		24524025	38501495	43	19927											
NAGA	4668	broad.mit.edu	37	chr22	42461779	42461779	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agtgcccagggccggccactGgctgcagtatgtcctggtgc	5	8	15	13	1	0	0	0	0	0	0	1	0	1	0	4	4	3	3	4	4	1	1			TCGA-VP-A875-01A-31D-A34U-08	TCGA-VP-A875-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5f978ce-bc06-49da-99f3-b9064fdbe024	2e305204-80d3-4c7c-b416-3ceb01e18ae0	g.chr22:42461779G>A	ENST00000396398.3	-	6	1254	c.722C>T	c.(721-723)cCa>cTa	p.P241L	NAGA_ENST00000402937.1_Missense_Mutation_p.P241L|NAGA_ENST00000403363.1_Missense_Mutation_p.P241L	NM_000262.2	NP_000253.1	P17050	NAGAB_HUMAN	N-acetylgalactosaminidase, alpha-	241					carbohydrate catabolic process (GO:0016052)|glycolipid catabolic process (GO:0019377)|glycoside catabolic process (GO:0016139)|glycosylceramide catabolic process (GO:0046477)|oligosaccharide metabolic process (GO:0009311)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	alpha-galactosidase activity (GO:0004557)|alpha-N-acetylgalactosaminidase activity (GO:0008456)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	11						GCCGGCCACTGGCTGCAGTAT	0.597																																						ENST00000396398.3																			0				central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	11						c.(721-723)cCa>cTa		N-acetylgalactosaminidase, alpha-							96	71	80					22																	42461779		2203	4300	6503	SO:0001583	missense	4668				glycoside catabolic process|glycosylceramide catabolic process|oligosaccharide metabolic process	lysosome	alpha-galactosidase activity|alpha-N-acetylgalactosaminidase activity|cation binding|protein homodimerization activity	g.chr22:42461779G>A		CCDS14030.1	22q13.2	2010-07-09			ENSG00000198951	ENSG00000198951	3.2.1.49		7631	protein-coding gene	gene with protein product		104170					Standard	NM_000262		Approved	D22S674	uc003bbw.4	P17050	OTTHUMG00000151276	ENST00000396398.3:c.722C>T	22.37:g.42461779G>A	ENSP00000379680:p.Pro241Leu					NAGA_ENST00000403363.1_Missense_Mutation_p.P241L|NAGA_ENST00000402937.1_Missense_Mutation_p.P241L	p.P241L	NM_000262.2	NP_000253.1	P17050	NAGAB_HUMAN			6	1254	-			241						Missense_Mutation	SNP	ENST00000396398.3	37	c.722C>T	CCDS14030.1	.	.	.	.	.	.	.	.	.	.	G	20.5	4.003431	0.74932	.	.	ENSG00000198951	ENST00000396398;ENST00000403363;ENST00000402937	D;D;D	0.82984	-1.67;-1.67;-1.67	5.09	5.09	0.68999	Aldolase-type TIM barrel (1);Glycoside hydrolase, superfamily (1);	0.000000	0.85682	D	0.000000	D	0.87285	0.6139	M	0.89534	3.04	0.80722	D	1	B	0.19817	0.039	B	0.22601	0.04	D	0.86160	0.1593	10	0.59425	D	0.04	-12.3572	18.5035	0.90890	0.0:0.0:1.0:0.0	.	241	P17050	NAGAB_HUMAN	L	241	ENSP00000379680:P241L;ENSP00000385283:P241L;ENSP00000384603:P241L	ENSP00000379680:P241L	P	-	2	0	NAGA	40791725	1.000000	0.71417	0.989000	0.46669	0.888000	0.51559	7.979000	0.88103	2.376000	0.81061	0.563000	0.77884	CCA		0.597	NAGA-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322056.1			4	37	0	0	0	1	0	4	37					A	42461779	G	A	42461779	3	1	410	1	0	0	0	0	1	0	0	0	10141	1348	47	3	529	3	NAGA	22	42461779	Missense_Mutation	SNP	G	TCGA-VP-A875-01A-31D-A34U-08		42461779	8842787	44	19928											
AR	367	broad.mit.edu	37	chrX	66905906	66905906	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttgcactattgataaattccGaaggaaaaattgtccatctt	14	14	6	7	1	1	1	0	1	1	0	3	3	3	2	2	1	1	1	2	1	6	7	rs137852573		TCGA-VP-A875-01A-31D-A34U-08	TCGA-VP-A875-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5f978ce-bc06-49da-99f3-b9064fdbe024	2e305204-80d3-4c7c-b416-3ceb01e18ae0	g.chrX:66905906G>A	ENST00000374690.3	+	3	2347	c.1823G>A	c.(1822-1824)cGa>cAa	p.R608Q	AR_ENST00000396043.2_Missense_Mutation_p.R76Q|AR_ENST00000504326.1_Missense_Mutation_p.R608Q|AR_ENST00000513847.1_3'UTR|AR_ENST00000396044.3_Missense_Mutation_p.R608Q	NM_000044.3	NP_000035.2	P10275	ANDR_HUMAN	androgen receptor	607	Interaction with HIPK3. {ECO:0000250}.|Interaction with LPXN.		R -> K (in PAIS and breast cancer; defective nuclear localization). {ECO:0000269|PubMed:1424203, ECO:0000269|PubMed:8281139, ECO:0000269|PubMed:9196614}.		androgen receptor signaling pathway (GO:0030521)|cell death (GO:0008219)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of integrin biosynthetic process (GO:0045720)|positive regulation of cell proliferation (GO:0008284)|positive regulation of integrin biosynthetic process (GO:0045726)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of phosphorylation (GO:0042327)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland development (GO:0030850)|protein oligomerization (GO:0051259)|regulation of establishment of protein localization to plasma membrane (GO:0090003)|sex differentiation (GO:0007548)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transport (GO:0006810)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	androgen binding (GO:0005497)|androgen receptor activity (GO:0004882)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein dimerization activity (GO:0046983)|receptor binding (GO:0005102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|prostate(11)|stomach(2)|upper_aerodigestive_tract(3)	67	all_cancers(1;0.173)|Prostate(1;2.27e-16)|all_epithelial(1;0.102)	all_lung(315;1.3e-11)			Bicalutamide(DB01128)|Cyproterone acetate(DB04839)|Danazol(DB01406)|Drospirenone(DB01395)|Drostanolone(DB00858)|Enzalutamide(DB08899)|Fludrocortisone(DB00687)|Fluoxymesterone(DB01185)|Flutamide(DB00499)|Ketoconazole(DB01026)|Levonorgestrel(DB00367)|Methyltestosterone(DB06710)|Nandrolone decanoate(DB08804)|Nandrolone phenpropionate(DB00984)|Nilutamide(DB00665)|Oxandrolone(DB00621)|Spironolactone(DB00421)|Testosterone Propionate(DB01420)|Testosterone(DB00624)	GATAAATTCCGAAGGAAAAAT	0.423									Androgen Insensitivity Syndrome																													ENST00000374690.3																			0				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|prostate(11)|stomach(2)|upper_aerodigestive_tract(3)	67	GRCh37	CM920073	AR	M	rs137852573	c.(1822-1824)cGa>cAa		androgen receptor	Bicalutamide(DB01128)|Cyproterone(DB04839)|Dromostanolone(DB00858)|Finasteride(DB01216)|Fluoxymesterone(DB01185)|Flutamide(DB00499)|Nandrolone(DB00984)|Nilutamide(DB00665)|Oxandrolone(DB00621)|Testosterone(DB00624)						127	108	114					X																	66905906		2203	4300	6503	SO:0001583	missense	367	Androgen Insensitivity Syndrome	Familial Cancer Database	CAIS, Testicular Feminisation, AIS, Morris syndrome; incl. Reifenstein Syndrome	cell death|cell growth|cell proliferation|cell-cell signaling|negative regulation of apoptosis|negative regulation of integrin biosynthetic process|positive regulation of cell proliferation|positive regulation of integrin biosynthetic process|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|regulation of establishment of protein localization in plasma membrane|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transport	cytoplasm|nuclear chromatin|nucleoplasm	androgen binding|androgen receptor activity|beta-catenin binding|enzyme binding|ligand-regulated transcription factor activity|protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding	g.chrX:66905906G>A	M20132	CCDS14387.1, CCDS43965.1	Xq12	2013-01-16	2008-08-07		ENSG00000169083	ENSG00000169083		"Nuclear hormone receptors"	644	protein-coding gene	gene with protein product	"testicular feminization", "Kennedy disease"	313700	"dihydrotestosterone receptor", "spinal and bulbar muscular atrophy"	DHTR, SBMA		3353726, 3377788	Standard	NM_000044		Approved	AIS, NR3C4, SMAX1, HUMARA	uc004dwu.2	P10275	OTTHUMG00000021740	ENST00000374690.3:c.1823G>A	X.37:g.66905906G>A	ENSP00000363822:p.Arg608Gln					AR_ENST00000504326.1_Missense_Mutation_p.R608Q|AR_ENST00000513847.1_3'UTR|AR_ENST00000396043.2_Missense_Mutation_p.R76Q|AR_ENST00000396044.3_Missense_Mutation_p.R608Q	p.R608Q	NM_000044.3	NP_000035.2	P10275	ANDR_HUMAN			3	2347	+	all_cancers(1;0.173)|Prostate(1;2.27e-16)|all_epithelial(1;0.102)	all_lung(315;1.3e-11)	607		R -> K (in PAIS and breast cancer; defective nuclear localization).	Interaction with HIPK3 (By similarity).		A2RUN2|B1AKD7|Q9UD95	Missense_Mutation	SNP	ENST00000374690.3	37	c.1823G>A	CCDS14387.1	.	.	.	.	.	.	.	.	.	.	G	34	5.375561	0.95923	.	.	ENSG00000169083	ENST00000544984;ENST00000374690;ENST00000504326;ENST00000396044;ENST00000396043	D;D;D;D	0.97186	-4.28;-4.28;-4.28;-4.28	5.28	5.28	0.74379	Zinc finger, NHR/GATA-type (1);Zinc finger, nuclear hormone receptor-type (3);	0.000000	0.85682	D	0.000000	D	0.97458	0.9168	L	0.45352	1.415	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.998;0.998;1.0;0.998	D	0.98231	1.0483	10	0.87932	D	0	.	15.0966	0.72238	0.0:0.0:1.0:0.0	.	608;608;76;607	E7EVX6;D3YPQ2;F1D8N5;P10275	.;.;.;ANDR_HUMAN	Q	418;608;608;608;76	ENSP00000363822:R608Q;ENSP00000421155:R608Q;ENSP00000379359:R608Q;ENSP00000379358:R76Q	ENSP00000363822:R608Q	R	+	2	0	AR	66822631	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.054000	0.93866	2.447000	0.82792	0.523000	0.50628	CGA		0.423	AR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057007.1	NM_000044		10	24	0	0	0	1	0	10	24					A	66905906	G	A	66905906	3	1	410	1	0	0	0	0	1	0	0	0	836	1058	37	2	1857	2	AR	23	66905906	Missense_Mutation	SNP	G	TCGA-VP-A875-01A-31D-A34U-08		66905906	88364654	45	19929											
VPS13D	55187	broad.mit.edu	37	chr1	12446347	12446347	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatcaatgtgcactatacacAgctggcaaccagtcacatgc	14	8	7	12	0	2	0	2	0	0	0	2	0	2	0	1	1	5	3	1	1	5	2	rs144706588		TCGA-VP-A876-01A-11D-A34U-08	TCGA-VP-A876-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4de8976-c5ea-45ef-b7c7-38d5fd10cd0b	d15683ba-3e40-4447-bca8-760f87c6c438	g.chr1:12446347A>G	ENST00000358136.3	+	60	11718	c.11588A>G	c.(11587-11589)cAg>cGg	p.Q3863R	VPS13D_ENST00000496628.1_3'UTR|VPS13D_ENST00000356315.4_Missense_Mutation_p.Q3838R	NM_015378.2	NP_056193.2			vacuolar protein sorting 13 homolog D (S. cerevisiae)											NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		CACTATACACAGCTGGCAACC	0.438																																						ENST00000358136.3																			0				NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130						c.(11587-11589)cAg>cGg		vacuolar protein sorting 13 homolog D (S. cerevisiae)							134	130	131					1																	12446347		2203	4300	6503	SO:0001583	missense	55187				protein localization			g.chr1:12446347A>G	AJ608774	CCDS30588.1, CCDS30589.1	1p36.21	2008-02-05	2006-04-04		ENSG00000048707	ENSG00000048707			23595	protein-coding gene	gene with protein product		608877	"vacuolar protein sorting 13D (yeast)"				Standard	NM_015378		Approved	FLJ10619, KIAA0453	uc001atv.3	Q5THJ4	OTTHUMG00000013155	ENST00000358136.3:c.11588A>G	1.37:g.12446347A>G	ENSP00000350854:p.Gln3863Arg					VPS13D_ENST00000356315.4_Missense_Mutation_p.Q3838R|VPS13D_ENST00000496628.1_3'UTR	p.Q3863R	NM_015378.2	NP_056193.2	Q5THJ4	VP13D_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)	60	11718	+	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)	3862						Missense_Mutation	SNP	ENST00000358136.3	37	c.11588A>G	CCDS30588.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	8.640|8.640	0.895848|0.895848	0.17686|0.17686	.|.	.|.	ENSG00000048707|ENSG00000048707	ENST00000356315;ENST00000358136|ENST00000011700	T;T|.	0.52057|.	0.68;0.68|.	6.05|6.05	4.93|4.93	0.64822|0.64822	.|.	0.279681|.	0.42420|.	D|.	0.000712|.	T|T	0.26011|0.26011	0.0634|0.0634	N|N	0.01576|0.01576	-0.805|-0.805	0.80722|0.80722	D|D	1|1	B;B|.	0.09022|.	0.001;0.002|.	B;B|.	0.08055|.	0.003;0.002|.	T|T	0.13469|0.13469	-1.0508|-1.0508	10|5	0.21540|.	T|.	0.41|.	.|.	11.9455|11.9455	0.52926|0.52926	0.9329:0.0:0.0671:0.0|0.9329:0.0:0.0671:0.0	.|.	3838;3862|.	Q5THJ4-2;Q5THJ4|.	.;VP13D_HUMAN|.	R|G	3838;3863|2685	ENSP00000348666:Q3838R;ENSP00000350854:Q3863R|.	ENSP00000348666:Q3838R|.	Q|S	+|+	2|1	0|0	VPS13D|VPS13D	12368934|12368934	0.984000|0.984000	0.35163|0.35163	0.985000|0.985000	0.45067|0.45067	0.989000|0.989000	0.77384|0.77384	4.089000|4.089000	0.57685|0.57685	1.126000|1.126000	0.42016|0.42016	0.533000|0.533000	0.62120|0.62120	CAG|AGC		0.438	VPS13D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000036897.2	NM_015378		27	51	0	0	0	1	0	27	51					G	12446347	A	G	12446347	3	3	411	1	0	0	0	0	1	0	0	0	17189	188	7	4	11822	4	VPS13D	1	12446347	Missense_Mutation	SNP	A	TCGA-VP-A876-01A-11D-A34U-08		12446347	236804274	1	19930											
CCDC19	25790	broad.mit.edu	37	chr1	159846529	159846529	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcctggttgcgcttggccCgcaaggcatcctgggaatgt	5	10	13	13	2	0	0	0	0	0	0	2	1	2	1	4	4	1	4	4	4	2	2			TCGA-VP-A876-01A-11D-A34U-08	TCGA-VP-A876-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4de8976-c5ea-45ef-b7c7-38d5fd10cd0b	d15683ba-3e40-4447-bca8-760f87c6c438	g.chr1:159846529C>T	ENST00000368099.4	-	10	1233	c.1169G>A	c.(1168-1170)cGg>cAg	p.R390Q	CCDC19_ENST00000426543.2_Missense_Mutation_p.R305Q|CCDC19_ENST00000476696.1_5'UTR	NM_012337.2	NP_036469.2														endometrium(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	26	all_hematologic(112;0.0597)		BRCA - Breast invasive adenocarcinoma(70;0.151)			GCGCTTGGCCCGCAAGGCATC	0.512																																						ENST00000426543.2																			0				endometrium(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	26						c.(913-915)cGg>cAg		coiled-coil domain containing 19							71	58	62					1																	159846529		2203	4300	6503	SO:0001583	missense	25790					mitochondrion|soluble fraction		g.chr1:159846529C>T																												ENST00000368099.4:c.1169G>A	1.37:g.159846529C>T	ENSP00000357079:p.Arg390Gln					CCDC19_ENST00000476696.1_5'UTR|CCDC19_ENST00000368099.4_Missense_Mutation_p.R390Q	p.R305Q			Q9UL16	CCD19_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.151)		10	1369	-	all_hematologic(112;0.0597)		390						Missense_Mutation	SNP	ENST00000368099.4	37	c.914G>A	CCDS30914.1	.	.	.	.	.	.	.	.	.	.	c	32	5.110462	0.94292	.	.	ENSG00000213085	ENST00000368099;ENST00000426543	T;T	0.13901	2.55;2.55	5.16	5.16	0.70880	.	0.176206	0.47093	D	0.000257	T	0.34571	0.0902	M	0.85197	2.74	0.54753	D	0.999986	D	0.89917	1.0	D	0.87578	0.998	T	0.15378	-1.0439	9	.	.	.	-27.7702	16.5314	0.84361	0.0:1.0:0.0:0.0	.	390	Q9UL16	CCD19_HUMAN	Q	390;305	ENSP00000357079:R390Q;ENSP00000403044:R305Q	.	R	-	2	0	CCDC19	158113153	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	6.399000	0.73248	2.571000	0.86741	0.486000	0.48141	CGG		0.512	CCDC19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085979.1			7	42	0	0	0	1	0	7	42					T	159846529	C	T	159846529	3	4	411	1	0	0	0	0	1	0	0	0	2795	652	23	2	498	2	CCDC19	1	159846529	Missense_Mutation	SNP	C	TCGA-VP-A876-01A-11D-A34U-08	147400182	159846529	89404092	2	19931											
RETSAT	54884	broad.mit.edu	37	chr2	85570403	85570403	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgcccggatcctagaatcaaGattcttaaggtctgagtaca	12	11	9	9	1	3	3	1	1	2	2	4	4	4	4	2	2	2	1	2	2	5	4			TCGA-VP-A876-01A-11D-A34U-08	TCGA-VP-A876-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4de8976-c5ea-45ef-b7c7-38d5fd10cd0b	d15683ba-3e40-4447-bca8-760f87c6c438	g.chr2:85570403G>A	ENST00000295802.4	-	11	1907	c.1795C>T	c.(1795-1797)Ctt>Ttt	p.L599F	RETSAT_ENST00000263854.6_3'UTR|RETSAT_ENST00000457495.2_Missense_Mutation_p.L538F|RETSAT_ENST00000475624.2_5'Flank	NM_017750.3	NP_060220.3	Q6NUM9	RETST_HUMAN	retinol saturase (all-trans-retinol 13,14-reductase)	599					oxidation-reduction process (GO:0055114)|retinol metabolic process (GO:0042572)	endoplasmic reticulum membrane (GO:0005789)|membrane (GO:0016020)|nuclear membrane (GO:0031965)|nuclear outer membrane (GO:0005640)	all-trans-retinol 13,14-reductase activity (GO:0051786)|oxidoreductase activity (GO:0016491)			NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	30					Vitamin A(DB00162)	CTAGAATCAAGATTCTTAAGG	0.532																																						ENST00000295802.4																			0				NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	30						c.(1795-1797)Ctt>Ttt		retinol saturase (all-trans-retinol 13,14-reductase)	Vitamin A(DB00162)						100	104	102					2																	85570403		2203	4300	6503	SO:0001583	missense	54884				retinol metabolic process	endoplasmic reticulum membrane|nuclear outer membrane	all-trans-retinol 13,14-reductase activity|electron carrier activity	g.chr2:85570403G>A	AK075261	CCDS1972.1	2p11.2	2008-02-05			ENSG00000042445	ENSG00000042445	1.3.99.23		25991	protein-coding gene	gene with protein product						12975309, 15358783	Standard	NM_017750		Approved	FLJ20296	uc002spd.3	Q6NUM9	OTTHUMG00000154611	ENST00000295802.4:c.1795C>T	2.37:g.85570403G>A	ENSP00000295802:p.Leu599Phe					RETSAT_ENST00000263854.6_3'UTR|RETSAT_ENST00000457495.2_Missense_Mutation_p.L538F	p.L599F	NM_017750.3	NP_060220.3	Q6NUM9	RETST_HUMAN			11	1907	-			599					A6NIK3|Q53R95|Q53SA9|Q6UX05|Q8N2H5|Q96FA4|Q9NXE5	Missense_Mutation	SNP	ENST00000295802.4	37	c.1795C>T	CCDS1972.1	.	.	.	.	.	.	.	.	.	.	G	11.30	1.597211	0.28445	.	.	ENSG00000042445	ENST00000295802;ENST00000457495	T;T	0.28069	1.63;1.7	4.49	3.6	0.41247	.	0.146904	0.46758	D	0.000264	T	0.30417	0.0764	L	0.55834	1.745	0.80722	D	1	P;P;P	0.48911	0.915;0.915;0.917	P;P;P	0.45971	0.499;0.499;0.449	T	0.06162	-1.0842	10	0.56958	D	0.05	-13.3923	6.3233	0.21229	0.0989:0.1894:0.7117:0.0	.	538;538;599	G5E9N3;B4DKE1;Q6NUM9	.;.;RETST_HUMAN	F	599;538	ENSP00000295802:L599F;ENSP00000405040:L538F	ENSP00000295802:L599F	L	-	1	0	RETSAT	85423914	0.013000	0.17824	0.046000	0.18839	0.092000	0.18411	0.923000	0.28757	1.226000	0.43582	-0.305000	0.09177	CTT		0.532	RETSAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252489.1	NM_017750		4	88	0	0	0	1	0	4	88					A	85570403	G	A	85570403	3	1	411	1	0	0	0	0	1	0	0	0	13238	942	33	3	41	3	RETSAT	2	85570403	Missense_Mutation	SNP	G	TCGA-VP-A876-01A-11D-A34U-08		85570403	157628970	3	19932											
SCN5A	6331	broad.mit.edu	37	chr3	38591846	38591846	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cacggtccctgtccggagaaGgggggaagtcggcgagatct	8	6	17	10	4	1	2	0	0	1	2	4	5	3	3	2	6	0	0	2	6	2	0	rs199473338		TCGA-VP-A876-01A-11D-A34U-08	TCGA-VP-A876-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4de8976-c5ea-45ef-b7c7-38d5fd10cd0b	d15683ba-3e40-4447-bca8-760f87c6c438	g.chr3:38591846G>T	ENST00000333535.4	-	28	6166	c.6017C>A	c.(6016-6018)cCt>cAt	p.P2006H	SCN5A_ENST00000464652.1_5'Flank|SCN5A_ENST00000451551.2_Missense_Mutation_p.P1952H|SCN5A_ENST00000413689.1_Missense_Mutation_p.P2006H|SCN5A_ENST00000455624.2_Missense_Mutation_p.P1973H|SCN5A_ENST00000414099.2_Missense_Mutation_p.P1988H|SCN5A_ENST00000450102.2_Missense_Mutation_p.P1952H|SCN5A_ENST00000423572.2_Missense_Mutation_p.P2005H|SCN5A_ENST00000425664.1_Missense_Mutation_p.P1988H|SCN5A_ENST00000443581.1_Missense_Mutation_p.P2005H|SCN5A_ENST00000449557.2_Missense_Mutation_p.P1952H			Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	2006			P -> A (in LQT3; causes an increase of persistent sodium current and produces a depolarizing shift in voltage dependence of inactivation).		AV node cell to bundle of His cell communication (GO:0086067)|brainstem development (GO:0003360)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cardiac muscle cell action potential involved in contraction (GO:0086002)|cardiac muscle contraction (GO:0060048)|cardiac ventricle development (GO:0003231)|cellular response to calcium ion (GO:0071277)|cerebellum development (GO:0021549)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane depolarization during SA node cell action potential (GO:0086046)|neuronal action potential (GO:0019228)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of action potential (GO:0045760)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of sodium ion transport (GO:0010765)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of sodium ion transmembrane transport (GO:1902305)|regulation of ventricular cardiac muscle cell membrane depolarization (GO:0060373)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|telencephalon development (GO:0021537)|ventricular cardiac muscle cell action potential (GO:0086005)	caveola (GO:0005901)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	ankyrin binding (GO:0030506)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|fibroblast growth factor binding (GO:0017134)|ion channel binding (GO:0044325)|nitric-oxide synthase binding (GO:0050998)|protein kinase binding (GO:0019901)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)|voltage-gated sodium channel activity (GO:0005248)|voltage-gated sodium channel activity involved in cardiac muscle cell action potential (GO:0086006)			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Ajmaline(DB01426)|Aprindine(DB01429)|Benzonatate(DB00868)|Carbamazepine(DB00564)|Cinchocaine(DB00527)|Cocaine(DB00907)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lidocaine(DB00281)|Mexiletine(DB00379)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine barbiturate(DB01346)|Quinidine(DB00908)|Ranolazine(DB00243)|Riluzole(DB00740)|Tocainide(DB01056)|Valproic Acid(DB00313)|Verapamil(DB00661)|Zonisamide(DB00909)	GTCCGGAGAAGGGGGGAAGTC	0.577																																						ENST00000413689.1																			0				NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107						c.(6016-6018)cCt>cAt		sodium channel, voltage-gated, type V, alpha subunit	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)						78	80	80					3																	38591846		2006	4181	6187	SO:0001583	missense	6331				blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity	g.chr3:38591846G>T	AJ310893	CCDS46796.1, CCDS46797.1, CCDS46798.1, CCDS46799.1, CCDS54569.1, CCDS54570.1	3p21	2014-09-17	2007-01-23		ENSG00000183873	ENSG00000183873		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10593	protein-coding gene	gene with protein product	"long QT syndrome 3"	600163	"sodium channel, voltage-gated, type V, alpha (long QT syndrome 3)"	CMD1E		7842012, 15466643, 16382098	Standard	NM_198056		Approved	Nav1.5, LQT3, HB1, HBBD, PFHB1, IVF, HB2, HH1, SSS1, CDCD2, CMPD2, ICCD	uc021wvl.1	Q14524	OTTHUMG00000156166	ENST00000333535.4:c.6017C>A	3.37:g.38591846G>T	ENSP00000328968:p.Pro2006His					SCN5A_ENST00000455624.2_Missense_Mutation_p.P1973H|SCN5A_ENST00000451551.2_Missense_Mutation_p.P1952H|SCN5A_ENST00000443581.1_Missense_Mutation_p.P2005H|SCN5A_ENST00000450102.2_Missense_Mutation_p.P1952H|SCN5A_ENST00000449557.2_Missense_Mutation_p.P1952H|SCN5A_ENST00000423572.2_Missense_Mutation_p.P2005H|SCN5A_ENST00000333535.4_Missense_Mutation_p.P2006H|SCN5A_ENST00000414099.2_Missense_Mutation_p.P1988H|SCN5A_ENST00000425664.1_Missense_Mutation_p.P1988H	p.P2006H	NM_001099404.1|NM_001160160.1	NP_001092874.1|NP_001153632.1	Q14524	SCN5A_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	28	6210	-	Medulloblastoma(35;0.163)		2006		P -> A (in LQT3; causes an increase of persistent sodium current and produces a depolarizing shift in voltage dependence of inactivation).			A5H1P8|A6N922|A6N923|B2RTU0|E7ET19|E9PEF3|E9PEK2|E9PFW7|Q59H93|Q75RX9|Q75RY0|Q86UR3|Q8IZC9|Q96J69	Missense_Mutation	SNP	ENST00000333535.4	37	c.6017C>A	CCDS46796.1	.	.	.	.	.	.	.	.	.	.	G	9.258	1.042541	0.19748	.	.	ENSG00000183873	ENST00000414099;ENST00000423572;ENST00000413689;ENST00000451551;ENST00000443581;ENST00000425664;ENST00000333535;ENST00000455624;ENST00000450102;ENST00000449557	D;D;D;D;D;D;D;D;D;D	0.95821	-3.72;-3.75;-3.75;-3.77;-3.75;-3.72;-3.75;-3.82;-3.77;-3.77	5.47	4.59	0.56863	.	0.775101	0.12097	N	0.499802	D	0.90848	0.7125	N	0.08118	0	0.09310	N	1	B;B;P;P;P;P	0.44006	0.371;0.371;0.614;0.731;0.824;0.564	B;B;B;B;P;B	0.48166	0.112;0.112;0.149;0.161;0.569;0.305	D	0.83966	0.0324	10	0.62326	D	0.03	.	6.9254	0.24412	0.2998:0.0:0.7002:0.0	.	1952;1973;1988;2006;2005;2006	E9PEF3;E9PHB6;E9PG18;Q14524;Q14524-2;E9PEK2	.;.;.;SCN5A_HUMAN;.;.	H	1988;2005;2006;1952;2005;1988;2006;1973;1952;1952	ENSP00000398962:P1988H;ENSP00000398266:P2005H;ENSP00000410257:P2006H;ENSP00000388797:P1952H;ENSP00000397915:P2005H;ENSP00000416634:P1988H;ENSP00000328968:P2006H;ENSP00000399524:P1973H;ENSP00000403355:P1952H;ENSP00000413996:P1952H	ENSP00000328968:P2006H	P	-	2	0	SCN5A	38566850	0.137000	0.22531	0.117000	0.21633	0.611000	0.37282	3.311000	0.51919	1.288000	0.44600	0.655000	0.94253	CCT		0.577	SCN5A-014	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000377958.1	NM_198056		5	43	1	0	0.184627	1	0.184627	5	43					T	38591846	G	T	38591846	3	4	411	1	0	0	0	0	1	0	0	0	13922	1000	35	5	37	5	SCN5A	3	38591846	Missense_Mutation	SNP	G	TCGA-VP-A876-01A-11D-A34U-08		38591846	159430584	4	19933											
CLPTM1L	81037	broad.mit.edu	37	chr5	1322992	1322992	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agggaagcacatggactcacCgttgacgaagctgttgatta	12	9	12	8	2	1	2	1	2	0	0	1	5	1	4	1	2	2	4	1	2	3	3			TCGA-VP-A876-01A-11D-A34U-08	TCGA-VP-A876-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4de8976-c5ea-45ef-b7c7-38d5fd10cd0b	d15683ba-3e40-4447-bca8-760f87c6c438	g.chr5:1322992C>T	ENST00000320895.5	-	13	1572	c.1315G>A	c.(1315-1317)Ggg>Agg	p.G439R	CLPTM1L_ENST00000507807.1_Splice_Site_p.G270R|CLPTM1L_ENST00000506641.1_5'UTR|CLPTM1L_ENST00000320927.6_Splice_Site_p.G403R	NM_030782.3	NP_110409.2	Q96KA5	CLP1L_HUMAN	CLPTM1-like	439					apoptotic process (GO:0006915)	integral component of membrane (GO:0016021)|membrane (GO:0016020)		p.G439W(1)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24	Lung NSC(6;5.78e-14)|all_lung(6;4.47e-13)|all_epithelial(6;4.47e-09)		Epithelial(17;0.00931)|OV - Ovarian serous cystadenocarcinoma(19;0.0116)|all cancers(22;0.0181)	KIRC - Kidney renal clear cell carcinoma(5;0.177)|Kidney(13;0.208)		ATGGACTCACCGTTGACGAAG	0.438																																						ENST00000320895.5																			1	Substitution - Missense(1)	p.G439W(1)	lung(1)	breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24						c.e13+1		CLPTM1-like							159	155	156					5																	1322992		2203	4300	6503	SO:0001630	splice_region_variant	81037				apoptosis	integral to membrane		g.chr5:1322992C>T	AK027306	CCDS3862.1	5p15.33	2008-02-05			ENSG00000049656	ENSG00000049656			24308	protein-coding gene	gene with protein product	"cisplatin resistance related protein"	612585				11162647	Standard	NM_030782		Approved	FLJ14400, CRR9	uc003jch.3	Q96KA5	OTTHUMG00000131015	ENST00000320895.5:c.1315+1G>A	5.37:g.1322992C>T						CLPTM1L_ENST00000320927.6_Splice_Site_p.G403_splice|CLPTM1L_ENST00000507807.1_Splice_Site_p.G270_splice|CLPTM1L_ENST00000506641.1_5'UTR	p.G439_splice	NM_030782.3	NP_110409.2	Q96KA5	CLP1L_HUMAN	Epithelial(17;0.00931)|OV - Ovarian serous cystadenocarcinoma(19;0.0116)|all cancers(22;0.0181)	KIRC - Kidney renal clear cell carcinoma(5;0.177)|Kidney(13;0.208)	13	1572	-	Lung NSC(6;5.78e-14)|all_lung(6;4.47e-13)|all_epithelial(6;4.47e-09)		439					D3DTC1|Q658W6|Q7LG29|Q96AZ0|Q9H3N4	Splice_Site	SNP	ENST00000320895.5	37	c.1315_splice	CCDS3862.1	.	.	.	.	.	.	.	.	.	.	C	17.82	3.482845	0.63962	.	.	ENSG00000049656	ENST00000320895;ENST00000507807;ENST00000320927	T;T;T	0.44881	0.91;0.95;0.94	4.58	4.58	0.56647	.	0.000000	0.85682	D	0.000000	T	0.67711	0.2922	M	0.87827	2.91	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	T	0.69094	-0.5236	10	0.25751	T	0.34	-23.3261	16.4979	0.84250	0.0:1.0:0.0:0.0	.	439;270	Q96KA5;G5E9Z2	CLP1L_HUMAN;.	R	439;270;403	ENSP00000313854:G439R;ENSP00000423321:G270R;ENSP00000315196:G403R	ENSP00000313854:G439R	G	-	1	0	CLPTM1L	1375992	1.000000	0.71417	0.956000	0.39512	0.249000	0.25844	6.828000	0.75308	2.235000	0.73313	0.491000	0.48974	GGG		0.438	CLPTM1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253649.2	NM_030782	Missense_Mutation	43	96	0	0	0	1	0	43	96					T	1322992	C	T	1322992	5	4	411	1	0	0	0	0	0	0	1	0	3555	666	23	2	321	2	CLPTM1L	5	1322992	Splice_Site	SNP	C	TCGA-VP-A876-01A-11D-A34U-08		1322992	179592268	5	19934											
HSPA1L	3305	broad.mit.edu	37	chr6	31778218	31778218	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caatctcctccttgctcaggCggcccttgtcattggtgatg	5	13	10	13	1	3	1	2	1	1	0	5	1	4	1	3	3	1	1	3	3	1	3			TCGA-VP-A876-01A-11D-A34U-08	TCGA-VP-A876-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4de8976-c5ea-45ef-b7c7-38d5fd10cd0b	d15683ba-3e40-4447-bca8-760f87c6c438	g.chr6:31778218C>T	ENST00000375654.4	-	2	1721	c.1532G>A	c.(1531-1533)cGc>cAc	p.R511H	HSPA1L_ENST00000417199.3_Missense_Mutation_p.R511H	NM_005527.3	NP_005518.3	P34931	HS71L_HUMAN	heat shock 70kDa protein 1-like	511					binding of sperm to zona pellucida (GO:0007339)|protein refolding (GO:0042026)|response to unfolded protein (GO:0006986)	blood microparticle (GO:0072562)|cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrial matrix (GO:0005759)|zona pellucida receptor complex (GO:0002199)	ATP binding (GO:0005524)|unfolded protein binding (GO:0051082)			breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|pleura(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34						CTTGCTCAGGCGGCCCTTGTC	0.483																																						ENST00000375654.4																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|pleura(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34						c.(1531-1533)cGc>cAc		heat shock 70kDa protein 1-like							167	157	160					6																	31778218		2203	4300	6503	SO:0001583	missense	0				response to unfolded protein		ATP binding	g.chr6:31778218C>T	D85730	CCDS34413.1	6p21.3	2014-01-21	2002-08-29		ENSG00000204390	ENSG00000204390		"Heat shock proteins / HSP70"	5234	protein-coding gene	gene with protein product		140559	"heat shock 70kD protein-like 1"			9685725, 9349405	Standard	NM_005527		Approved	HSP70-HOM, hum70t	uc003nxh.3	P34931	OTTHUMG00000031208	ENST00000375654.4:c.1532G>A	6.37:g.31778218C>T	ENSP00000364805:p.Arg511His					HSPA1L_ENST00000417199.3_Missense_Mutation_p.R511H	p.R511H	NM_005527.3	NP_005518.3	P34931	HS71L_HUMAN			2	1721	-			511					A6NNB0|B0UXW8|O75634|Q2HXR3|Q8NE72|Q96QC9|Q9UQM1	Missense_Mutation	SNP	ENST00000375654.4	37	c.1532G>A	CCDS34413.1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.431619	0.83776	.	.	ENSG00000204390	ENST00000375654;ENST00000417199;ENST00000375653	T;T	0.04551	3.6;3.6	5.55	5.55	0.83447	.	0.000000	0.34750	N	0.003712	T	0.32194	0.0821	H	0.98525	4.255	0.58432	D	0.999999	D	0.76494	0.999	D	0.85130	0.997	T	0.54708	-0.8253	10	0.87932	D	0	-9.3782	17.0357	0.86474	0.0:1.0:0.0:0.0	.	511	P34931	HS71L_HUMAN	H	511;511;456	ENSP00000364805:R511H;ENSP00000387691:R511H	ENSP00000364804:R456H	R	-	2	0	HSPA1L	31886197	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	7.651000	0.83577	2.890000	0.99128	0.585000	0.79938	CGC		0.483	HSPA1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076416.2			5	171	0	0	0	1	0	5	171					T	31778218	C	T	31778218	3	4	411	1	0	0	0	0	1	0	0	0	7410	768	27	1	397	1	HSPA1L	6	31778218	Missense_Mutation	SNP	C	TCGA-VP-A876-01A-11D-A34U-08		31778218	139336849	6	19935											
NOTCH4	4855	broad.mit.edu	37	chr6	32188018	32188018	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ctgcattgggcatccccatgGcacggctggctcagacacat	8	8	11	14	1	1	1	1	0	0	1	2	1	2	1	2	4	1	5	2	4	0	1			TCGA-VP-A876-01A-11D-A34U-08	TCGA-VP-A876-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4de8976-c5ea-45ef-b7c7-38d5fd10cd0b	d15683ba-3e40-4447-bca8-760f87c6c438	g.chr6:32188018G>A	ENST00000375023.3	-	7	1341	c.1203C>T	c.(1201-1203)tgC>tgT	p.C401C		NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4	401	EGF-like 10. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cell differentiation (GO:0030154)|cell fate determination (GO:0001709)|embryo development (GO:0009790)|endothelial cell morphogenesis (GO:0001886)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|mammary gland development (GO:0030879)|morphogenesis of a branching structure (GO:0001763)|negative regulation of cell differentiation (GO:0045596)|negative regulation of endothelial cell differentiation (GO:0045602)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|patterning of blood vessels (GO:0001569)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|protein heterodimerization activity (GO:0046982)|receptor activity (GO:0004872)			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						CATCCCCATGGCACGGCTGGC	0.622																																						ENST00000375023.3																			0				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						c.(1201-1203)tgC>tgT		notch 4							71	71	71					6																	32188018		2203	4300	6503	SO:0001819	synonymous_variant	4855				cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity	g.chr6:32188018G>A		CCDS34420.1	6p21.3	2013-01-10	2010-06-24		ENSG00000204301	ENSG00000204301		"Ankyrin repeat domain containing"	7884	protein-coding gene	gene with protein product		164951	"Notch (Drosophila) homolog 4", "Notch homolog 4 (Drosophila)"	INT3		7835890	Standard	NM_004557		Approved		uc003obb.3	Q99466	OTTHUMG00000031044	ENST00000375023.3:c.1203C>T	6.37:g.32188018G>A							p.C401C	NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN			7	1341	-			401			EGF-like 10.		B0V183|B0V1X5|O00306|Q5SSY7|Q99458|Q99940|Q9H3S8|Q9UII9|Q9UIJ0	Silent	SNP	ENST00000375023.3	37	c.1203C>T	CCDS34420.1																																																																																				0.622	NOTCH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076045.2			3	37	0	0	0	1	0	3	37					A	32188018	G	A	32188018	2	1	411	1	0	0	0	0	0	0	0	1	10551	1195	42	3		3	NOTCH4	6	32188018	Silent	SNP	G	TCGA-VP-A876-01A-11D-A34U-08	409800	32188018	138927049	7	19936											
C7orf36	57002	broad.mit.edu	37	chr7	39606042	39606042	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cgtgggttcaagcagcctccTtgatccagggccctggagac	7	8	13	13	1	1	2	1	1	0	1	3	3	3	2	4	3	2	2	4	3	1	2			TCGA-VP-A876-01A-11D-A34U-08	TCGA-VP-A876-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4de8976-c5ea-45ef-b7c7-38d5fd10cd0b	d15683ba-3e40-4447-bca8-760f87c6c438	g.chr7:39606042T>C	ENST00000223273.2	+	1	68	c.25T>C	c.(25-27)Ttg>Ctg	p.L9L	YAE1D1_ENST00000448268.1_Silent_p.L9L|YAE1D1_ENST00000432096.2_Silent_p.L9L|AC011290.4_ENST00000439751.2_RNA	NM_020192.3	NP_064577.1	Q9NRH1	YAED1_HUMAN	Yae1 domain containing 1	9																	AGCAGCCTCCTTGATCCAGGG	0.607																																						ENST00000432096.2																			0											c.(25-27)Ttg>Ctg		Yae1 domain containing 1							88	77	81					7																	39606042		2203	4300	6503	SO:0001819	synonymous_variant	57002							g.chr7:39606042T>C	AF226046	CCDS5459.1, CCDS64630.1	7p14.1	2011-11-24	2011-11-24	2011-11-24	ENSG00000241127	ENSG00000241127			24857	protein-coding gene	gene with protein product			"chromosome 7 open reading frame 36"	C7orf36		12477932	Standard	NM_020192		Approved	GK003	uc003thc.4	Q9NRH1	OTTHUMG00000128689	ENST00000223273.2:c.25T>C	7.37:g.39606042T>C						YAE1D1_ENST00000448268.1_Silent_p.L9L|YAE1D1_ENST00000223273.2_Silent_p.L9L	p.L9L			Q9NRH1	CG036_HUMAN			1	38	+			9					A4D1W4|B4DE83|Q6IAF7|Q8WVZ5	Silent	SNP	ENST00000223273.2	37	c.25T>C	CCDS5459.1																																																																																				0.607	YAE1D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250586.1	NM_020192		8	33	0	0	0	1	0	8	33					C	39606042	T	C	39606042	2	2	411	1	0	0	0	0	0	0	0	1	2390	1606	56	4		4	C7orf36	7	39606042	Silent	SNP	T	TCGA-VP-A876-01A-11D-A34U-08		39606042	119532621	8	19937											
COL14A1	7373	broad.mit.edu	37	chr8	121237425	121237425	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atctatgatgaaggacagtcAgagcctctgactggagtttt	11	12	11	7	0	3	4	1	3	2	1	3	6	3	6	1	2	1	1	1	2	2	3			TCGA-VP-A876-01A-11D-A34U-08	TCGA-VP-A876-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4de8976-c5ea-45ef-b7c7-38d5fd10cd0b	d15683ba-3e40-4447-bca8-760f87c6c438	g.chr8:121237425A>T	ENST00000297848.3	+	15	2106	c.1836A>T	c.(1834-1836)tcA>tcT	p.S612S	COL14A1_ENST00000537875.1_3'UTR|COL14A1_ENST00000247781.3_Silent_p.S517S|COL14A1_ENST00000309791.4_Silent_p.S612S|COL14A1_ENST00000432943.2_3'UTR	NM_021110.1	NP_066933.1			collagen, type XIV, alpha 1											NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			AAGGACAGTCAGAGCCTCTGA	0.418																																						ENST00000297848.3																			0				NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119						c.(1834-1836)tcA>tcT		collagen, type XIV, alpha 1							76	75	76					8																	121237425		2203	4300	6503	SO:0001819	synonymous_variant	7373				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging	g.chr8:121237425A>T		CCDS34938.1	8q23	2013-02-11	2008-02-04		ENSG00000187955	ENSG00000187955		"Collagens", "Fibronectin type III domain containing"	2191	protein-coding gene	gene with protein product		120324	"undulin"	UND		1716629, 9427527	Standard	NM_021110		Approved		uc003yox.4	Q05707	OTTHUMG00000149877	ENST00000297848.3:c.1836A>T	8.37:g.121237425A>T						COL14A1_ENST00000309791.4_Silent_p.S612S|COL14A1_ENST00000247781.3_Silent_p.S517S|COL14A1_ENST00000432943.2_3'UTR|COL14A1_ENST00000537875.1_3'UTR	p.S612S	NM_021110.1	NP_066933.1	Q05707	COEA1_HUMAN	OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)		15	2106	+	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		612			Fibronectin type-III 4.			Silent	SNP	ENST00000297848.3	37	c.1836A>T	CCDS34938.1																																																																																				0.418	COL14A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313657.2	NM_021110		37	38	0	0	0	1	0	37	38					T	121237425	A	T	121237425	2	4	411	1	0	0	0	0	0	0	0	1	3671	175	7	5		5	COL14A1	8	121237425	Silent	SNP	A	TCGA-VP-A876-01A-11D-A34U-08		121237425	25126597	9	19938											
DMRT2	10655	broad.mit.edu	37	chr9	1057164	1057164	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tagatgtgcaaaagacctttTtgtagccaaacaagttggaa	15	11	9	6	0	0	2	0	0	0	2	0	3	0	3	2	1	3	3	2	1	7	5			TCGA-VP-A876-01A-11D-A34U-08	TCGA-VP-A876-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4de8976-c5ea-45ef-b7c7-38d5fd10cd0b	d15683ba-3e40-4447-bca8-760f87c6c438	g.chr9:1057164T>C	ENST00000358146.2	+	3	1577	c.1577T>C	c.(1576-1578)tTt>tCt	p.F526S	DMRT2_ENST00000382255.3_3'UTR|DMRT2_ENST00000302441.6_Missense_Mutation_p.F526S|DMRT2_ENST00000259622.6_3'UTR|DMRT2_ENST00000382251.3_Missense_Mutation_p.F526S			Q9Y5R5	DMRT2_HUMAN	doublesex and mab-3 related transcription factor 2	526					embryonic skeletal system development (GO:0048706)|positive regulation of myotome development (GO:2000287)|regulation of somitogenesis (GO:0014807)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			large_intestine(1)|lung(1)|prostate(2)	4		all_lung(10;1.49e-09)|Lung NSC(10;1.86e-09)		Lung(218;0.0195)|GBM - Glioblastoma multiforme(50;0.0388)		AAAGACCTTTTTGTAGCCAAA	0.403																																						ENST00000382251.3																			0				large_intestine(1)|lung(1)|prostate(2)	4						c.(1576-1578)tTt>tCt		doublesex and mab-3 related transcription factor 2							83	84	84					9																	1057164		2203	4300	6503	SO:0001583	missense	10655				male gonad development|sex determination	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity	g.chr9:1057164T>C	AF130729	CCDS6444.1, CCDS6445.1	9p24.3	2008-07-21			ENSG00000173253	ENSG00000173253			2935	protein-coding gene	gene with protein product	"terra-like protein"	604935				10332030	Standard	NM_181872		Approved		uc003zha.3	Q9Y5R5	OTTHUMG00000019437	ENST00000358146.2:c.1577T>C	9.37:g.1057164T>C	ENSP00000350865:p.Phe526Ser					DMRT2_ENST00000302441.6_Missense_Mutation_p.F526S|DMRT2_ENST00000259622.6_3'UTR|DMRT2_ENST00000382255.3_3'UTR|DMRT2_ENST00000358146.2_Missense_Mutation_p.F526S	p.F526S			Q9Y5R5	DMRT2_HUMAN		Lung(218;0.0195)|GBM - Glioblastoma multiforme(50;0.0388)	5	1906	+		all_lung(10;1.49e-09)|Lung NSC(10;1.86e-09)	526					B1ANC0|B9EGJ1|Q9NPG6|Q9NQR6	Missense_Mutation	SNP	ENST00000358146.2	37	c.1577T>C	CCDS6444.1	.	.	.	.	.	.	.	.	.	.	T	15.32	2.797235	0.50208	.	.	ENSG00000173253	ENST00000382251;ENST00000302441;ENST00000358146	T;T;T	0.30714	1.52;1.52;1.52	6.06	4.9	0.64082	.	0.102481	0.64402	D	0.000002	T	0.42966	0.1226	L	0.50333	1.59	0.53688	D	0.999977	D;D	0.67145	0.996;0.98	P;P	0.56216	0.794;0.773	T	0.36359	-0.9751	10	0.87932	D	0	-7.8489	13.0711	0.59061	0.0:0.0:0.1343:0.8657	.	526;370	Q9Y5R5;Q5HYK2	DMRT2_HUMAN;.	S	526	ENSP00000371686:F526S;ENSP00000305785:F526S;ENSP00000350865:F526S	ENSP00000305785:F526S	F	+	2	0	DMRT2	1047164	0.999000	0.42202	0.990000	0.47175	0.995000	0.86356	3.061000	0.49963	1.078000	0.41014	0.528000	0.53228	TTT		0.403	DMRT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051492.1	NM_006557		52	57	0	0	0	1	0	52	57					C	1057164	T	C	1057164	3	2	411	1	0	0	0	0	1	0	0	0	4586	1841	64	4	1644	4	DMRT2	9	1057164	Missense_Mutation	SNP	T	TCGA-VP-A876-01A-11D-A34U-08		1057164	140156267	10	19939											
GABBR2	9568	broad.mit.edu	37	chr9	101133846	101133846	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agcccacggtgagaatccagGtcctgacctagaggccatga	11	6	12	12	1	0	4	0	3	0	2	2	5	2	4	5	3	1	0	5	3	2	1			TCGA-VP-A876-01A-11D-A34U-08	TCGA-VP-A876-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4de8976-c5ea-45ef-b7c7-38d5fd10cd0b	d15683ba-3e40-4447-bca8-760f87c6c438	g.chr9:101133846G>A	ENST00000259455.2	-	12	2129	c.1670C>T	c.(1669-1671)aCc>aTc	p.T557I		NM_005458.7	NP_005449.5	O75899	GABR2_HUMAN	gamma-aminobutyric acid (GABA) B receptor, 2	557					G-protein coupled receptor signaling pathway (GO:0007186)|gamma-aminobutyric acid signaling pathway (GO:0007214)|negative regulation of adenylate cyclase activity (GO:0007194)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|G-protein coupled receptor heterodimeric complex (GO:0038039)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	G-protein coupled GABA receptor activity (GO:0004965)		NOTCH1_ENST00000277541/GABBR2(2)	breast(4)|endometrium(4)|large_intestine(12)|lung(21)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	49		Acute lymphoblastic leukemia(62;0.0527)			Baclofen(DB00181)	GAGAATCCAGGTCCTGACCTA	0.488																																						ENST00000259455.2																		NOTCH1_ENST00000277541/GABBR2(2)	0				breast(4)|endometrium(4)|large_intestine(12)|lung(21)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	49						c.(1669-1671)aCc>aTc		gamma-aminobutyric acid (GABA) B receptor, 2	Baclofen(DB00181)						86	82	83					9																	101133846		2203	4300	6503	SO:0001583	missense	9568				negative regulation of adenylate cyclase activity|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic membrane	G-protein coupled receptor activity|GABA-B receptor activity	g.chr9:101133846G>A	AF069755	CCDS6736.1	9q22.1-q22.3	2012-08-29	2006-02-16	2006-02-16	ENSG00000136928	ENSG00000136928		"GABA receptors", "GPCR / Class C : GABA(B) receptors"	4507	protein-coding gene	gene with protein product		607340	"G protein-coupled receptor 51"	GPR51		10087195	Standard	NM_005458		Approved	HG20, GABABR2, GPRC3B	uc004ays.3	O75899	OTTHUMG00000020345	ENST00000259455.2:c.1670C>T	9.37:g.101133846G>A	ENSP00000259455:p.Thr557Ile						p.T557I	NM_005458.7	NP_005449.5	O75899	GABR2_HUMAN			12	2129	-		Acute lymphoblastic leukemia(62;0.0527)	557					O75974|O75975|Q5VXZ2|Q8WX04|Q9P1R2|Q9UNR1|Q9UNS9	Missense_Mutation	SNP	ENST00000259455.2	37	c.1670C>T	CCDS6736.1	.	.	.	.	.	.	.	.	.	.	G	18.81	3.703357	0.68501	.	.	ENSG00000136928	ENST00000259455	D	0.87966	-2.32	5.42	5.42	0.78866	GPCR, family 3, C-terminal (2);	0.000000	0.85682	D	0.000000	D	0.88698	0.6507	N	0.20328	0.56	0.80722	D	1	D	0.76494	0.999	D	0.85130	0.997	D	0.89503	0.3765	10	0.49607	T	0.09	-36.6005	16.7142	0.85393	0.0:0.0:1.0:0.0	.	557	O75899	GABR2_HUMAN	I	557	ENSP00000259455:T557I	ENSP00000259455:T557I	T	-	2	0	GABBR2	100173667	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	8.932000	0.92897	2.539000	0.85634	0.655000	0.94253	ACC		0.488	GABBR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053373.1			10	17	0	0	0	1	0	10	17					A	101133846	G	A	101133846	3	1	411	1	0	0	0	0	1	0	0	0	6156	1261	44	3	1187	3	GABBR2	9	101133846	Missense_Mutation	SNP	G	TCGA-VP-A876-01A-11D-A34U-08	100076682	101133846	40079585	11	19940											
DNM1	1759	broad.mit.edu	37	chr9	130982360	130982360	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaacaagctgctccccctgcGcagaggtaagcaggccatgc	10	5	12	14	1	0	1	0	0	0	1	1	2	1	1	3	2	6	5	3	2	3	1			TCGA-VP-A876-01A-11D-A34U-08	TCGA-VP-A876-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4de8976-c5ea-45ef-b7c7-38d5fd10cd0b	d15683ba-3e40-4447-bca8-760f87c6c438	g.chr9:130982360G>A	ENST00000372923.3	+	5	775	c.683G>A	c.(682-684)cGc>cAc	p.R228H	DNM1_ENST00000393594.3_Missense_Mutation_p.R228H|DNM1_ENST00000341179.7_Missense_Mutation_p.R228H|DNM1_ENST00000475805.1_Missense_Mutation_p.R228H|DNM1_ENST00000486160.1_Missense_Mutation_p.R228H	NM_004408.2	NP_004399.2	Q05193	DYN1_HUMAN	dynamin 1	228	Dynamin-type G.				endocytosis (GO:0006897)|endosome organization (GO:0007032)|GTP catabolic process (GO:0006184)|receptor internalization (GO:0031623)|receptor-mediated endocytosis (GO:0006898)	extracellular vesicular exosome (GO:0070062)|membrane coat (GO:0030117)|microtubule (GO:0005874)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(15)|lung(6)|ovary(2)|urinary_tract(2)	32						CTCCCCCTGCGCAGAGGTAAG	0.627																																					GBM(113;146 1575 2722 28670 29921)	ENST00000341179.7																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(15)|lung(6)|ovary(2)|urinary_tract(2)	32						c.(682-684)cGc>cAc		dynamin 1							94	78	83					9																	130982360		2203	4300	6503	SO:0001583	missense	1759				receptor-mediated endocytosis	microtubule	GTP binding|GTPase activity	g.chr9:130982360G>A	L07807	CCDS6895.1, CCDS43882.1, CCDS75911.1, CCDS75912.1	9q34	2013-01-10			ENSG00000106976	ENSG00000106976		"Pleckstrin homology (PH) domain containing"	2972	protein-coding gene	gene with protein product		602377		DNM		2144893, 9143509	Standard	XM_005251763		Approved		uc022bob.1	Q05193	OTTHUMG00000020733	ENST00000372923.3:c.683G>A	9.37:g.130982360G>A	ENSP00000362014:p.Arg228His					DNM1_ENST00000393594.3_Missense_Mutation_p.R228H|DNM1_ENST00000486160.1_Missense_Mutation_p.R228H|DNM1_ENST00000372923.3_Missense_Mutation_p.R228H|DNM1_ENST00000475805.1_Missense_Mutation_p.R228H	p.R228H	NM_001005336.1	NP_001005336.1	Q05193	DYN1_HUMAN			5	775	+			228					A6NLM6|Q5SYX0|Q5SYX2|Q6P3T6|Q86VD2	Missense_Mutation	SNP	ENST00000372923.3	37	c.683G>A	CCDS6895.1	.	.	.	.	.	.	.	.	.	.	G	34	5.392178	0.95988	.	.	ENSG00000106976	ENST00000475805;ENST00000341179;ENST00000372923;ENST00000393589;ENST00000393594;ENST00000486160	T;T;T;T;T	0.75821	-0.97;-0.97;-0.97;-0.97;-0.97	5.42	5.42	0.78866	Dynamin, GTPase domain (1);Dynamin central domain (1);	0.000000	0.85682	D	0.000000	D	0.90758	0.7099	H	0.95574	3.69	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.78314	0.991;0.985;0.99	D	0.93277	0.6657	10	0.87932	D	0	-24.5363	19.2078	0.93739	0.0:0.0:1.0:0.0	.	228;228;228	Q05193;Q05193-3;Q05193-2	DYN1_HUMAN;.;.	H	228;228;228;223;228;228	ENSP00000419225:R228H;ENSP00000345680:R228H;ENSP00000362014:R228H;ENSP00000377219:R228H;ENSP00000420045:R228H	ENSP00000345680:R228H	R	+	2	0	DNM1	130022181	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	9.869000	0.99810	2.532000	0.85374	0.462000	0.41574	CGC		0.627	DNM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000054367.1	NM_004408		9	17	0	0	0	1	0	9	17					A	130982360	G	A	130982360	3	1	411	1	0	0	0	0	1	0	0	0	4670	1087	38	1	701	1	DNM1	9	130982360	Missense_Mutation	SNP	G	TCGA-VP-A876-01A-11D-A34U-08	29848514	130982360	10231071	12	19941											
BMI1	648	broad.mit.edu	37	chr10	22615874	22615874	+	Nonsense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcaagtattgtcctatttgTgatgtccaagttcacaagac	12	13	8	8	0	1	2	1	1	0	1	3	2	3	2	2	0	1	3	2	0	5	5			TCGA-VP-A876-01A-11D-A34U-08	TCGA-VP-A876-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4de8976-c5ea-45ef-b7c7-38d5fd10cd0b	d15683ba-3e40-4447-bca8-760f87c6c438	g.chr10:22615874T>A	ENST00000376663.3	+	3	673	c.168T>A	c.(166-168)tgT>tgA	p.C56*	COMMD3-BMI1_ENST00000602390.1_Nonsense_Mutation_p.C199*	NM_005180.8	NP_005171.4	P35226	BMI1_HUMAN	BMI1 proto-oncogene, polycomb ring finger	56					chromatin modification (GO:0016568)|hemopoiesis (GO:0030097)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|regulation of gene expression (GO:0010468)|segment specification (GO:0007379)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)|ubiquitin ligase complex (GO:0000151)	RING-like zinc finger domain binding (GO:0071535)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|skin(2)|urinary_tract(1)	12						GTCCTATTTGTGATGTCCAAG	0.338																																						ENST00000376663.3																			0				breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|skin(2)|urinary_tract(1)	12						c.(166-168)tgT>tgA		BMI1 polycomb ring finger oncogene							165	174	171					10																	22615874		2203	4300	6503	SO:0001587	stop_gained	648							g.chr10:22615874T>A	BC011652	CCDS7138.1	10p13	2014-06-26	2014-06-26	2006-04-26	ENSG00000168283	ENSG00000168283		"RING-type (C3HC4) zinc fingers", "Polycomb group ring fingers"	1066	protein-coding gene	gene with protein product		164831	"polycomb group ring finger 4", "B lymphoma Mo-MLV insertion region 1 homolog (mouse)"	PCGF4		8268912	Standard	NM_005180		Approved	RNF51		P35226	OTTHUMG00000017807	ENST00000376663.3:c.168T>A	10.37:g.22615874T>A	ENSP00000365851:p.Cys56*					COMMD3-BMI1_ENST00000602390.1_Nonsense_Mutation_p.C199*	p.C56*	NM_005180.8	NP_005171.4					3	673	+								Q16030|Q5T8Z3|Q96F37	Nonsense_Mutation	SNP	ENST00000376663.3	37	c.168T>A	CCDS7138.1	.	.	.	.	.	.	.	.	.	.	T	33	5.249067	0.95305	.	.	ENSG00000168283	ENST00000417470;ENST00000376691;ENST00000376663;ENST00000442508;ENST00000456675;ENST00000416820;ENST00000443519	.	.	.	5.67	4.55	0.56014	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-9.9957	8.0421	0.30527	0.0:0.16:0.0:0.84	.	.	.	.	X	56;40;56;56;56;56;33	.	ENSP00000365851:C56X	C	+	3	2	BMI1	22655880	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.746000	0.38288	2.171000	0.68590	0.528000	0.53228	TGT		0.338	BMI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047176.1	NM_005180		73	127	0	0	0	1	0	73	127					A	22615874	T	A	22615874	4	1	411	1	0	0	0	0	0	1	0	0	1455	1702	59	5	174	5	BMI1	10	22615874	Nonsense_Mutation	SNP	T	TCGA-VP-A876-01A-11D-A34U-08		22615874	112918873	13	19942											
TMEM180	79847	broad.mit.edu	37	chr10	104232673	104232673	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctggagcatctgttgtccgaCcatatctccctttccacggg	6	12	9	14	2	2	0	0	0	2	0	5	2	4	1	4	2	1	2	4	2	1	3			TCGA-VP-A876-01A-11D-A34U-08	TCGA-VP-A876-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4de8976-c5ea-45ef-b7c7-38d5fd10cd0b	d15683ba-3e40-4447-bca8-760f87c6c438	g.chr10:104232673C>T	ENST00000238936.4	+	7	1128	c.891C>T	c.(889-891)gaC>gaT	p.D297D	TMEM180_ENST00000366277.2_Silent_p.D26D	NM_024789.3	NP_079065.2	Q14CX5	TM180_HUMAN	transmembrane protein 180	297						integral component of membrane (GO:0016021)				breast(3)|endometrium(2)|large_intestine(3)|lung(1)|ovary(3)|skin(1)	13		Colorectal(252;0.122)		Epithelial(162;3.93e-09)|all cancers(201;1.02e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)		TGTTGTCCGACCATATCTCCC	0.532																																						ENST00000238936.4																			0				breast(3)|endometrium(2)|large_intestine(3)|lung(1)|ovary(3)|skin(1)	13						c.(889-891)gaC>gaT		transmembrane protein 180							241	189	206					10																	104232673		2203	4300	6503	SO:0001819	synonymous_variant	79847					integral to membrane		g.chr10:104232673C>T	AK026182	CCDS7535.1	10q24.32	2011-02-09	2006-10-12	2006-10-12	ENSG00000138111	ENSG00000138111			26196	protein-coding gene	gene with protein product				C10orf77		12477932	Standard	XM_006717971		Approved	FLJ22529, bA18I14.8	uc001kvt.3	Q14CX5	OTTHUMG00000018961	ENST00000238936.4:c.891C>T	10.37:g.104232673C>T						TMEM180_ENST00000366277.2_Silent_p.D26D	p.D297D	NM_024789.3	NP_079065.2	Q14CX5	TM180_HUMAN		Epithelial(162;3.93e-09)|all cancers(201;1.02e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)	7	1128	+		Colorectal(252;0.122)	297					Q6NWM8|Q6NWM9|Q6PEZ7|Q9H679	Silent	SNP	ENST00000238936.4	37	c.891C>T	CCDS7535.1																																																																																				0.532	TMEM180-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050075.2	NM_024789		8	112	0	0	0	1	0	8	112					T	104232673	C	T	104232673	2	4	411	1	0	0	0	0	0	0	0	1	16096	506	18	3		3	TMEM180	10	104232673	Silent	SNP	C	TCGA-VP-A876-01A-11D-A34U-08	81616799	104232673	31302074	14	19943											
OR5A1	219982	broad.mit.edu	37	chr11	59211176	59211176	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcggacccaacatcatcaacCacttcttctgcgacctccca	10	8	5	18	2	4	0	2	0	2	0	5	2	5	1	4	1	3	0	4	1	2	2			TCGA-VP-A876-01A-11D-A34U-08	TCGA-VP-A876-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4de8976-c5ea-45ef-b7c7-38d5fd10cd0b	d15683ba-3e40-4447-bca8-760f87c6c438	g.chr11:59211176C>T	ENST00000302030.2	+	1	560	c.535C>T	c.(535-537)Cac>Tac	p.H179Y		NM_001004728.1	NP_001004728.1	Q8NGJ0	OR5A1_HUMAN	olfactory receptor, family 5, subfamily A, member 1	179						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	28						CATCATCAACCACTTCTTCTG	0.542																																						ENST00000302030.2																			0				central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	28						c.(535-537)Cac>Tac		olfactory receptor, family 5, subfamily A, member 1							257	252	254					11																	59211176		2201	4295	6496	SO:0001583	missense	219982				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:59211176C>T	AB065804	CCDS31561.1	11q12.1	2012-08-09			ENSG00000172320	ENSG00000172320		"GPCR / Class A : Olfactory receptors"	8319	protein-coding gene	gene with protein product				OR5A1P			Standard	NM_001004728		Approved	OST181	uc001nnx.1	Q8NGJ0	OTTHUMG00000167339	ENST00000302030.2:c.535C>T	11.37:g.59211176C>T	ENSP00000303096:p.His179Tyr						p.H179Y	NM_001004728.1	NP_001004728.1	Q8NGJ0	OR5A1_HUMAN			1	560	+			179					B9EH58|Q6IFF2|Q96RB1	Missense_Mutation	SNP	ENST00000302030.2	37	c.535C>T	CCDS31561.1	.	.	.	.	.	.	.	.	.	.	C	14.97	2.695560	0.48202	.	.	ENSG00000172320	ENST00000302030	T	0.00183	8.6	5.98	5.98	0.97165	GPCR, rhodopsin-like superfamily (1);	0.000000	0.56097	D	0.000035	T	0.00695	0.0023	M	0.83774	2.66	0.33510	D	0.590987	D	0.89917	1.0	D	0.97110	1.0	T	0.62364	-0.6870	10	0.72032	D	0.01	-27.4439	19.0362	0.92980	0.0:1.0:0.0:0.0	.	179	Q8NGJ0	OR5A1_HUMAN	Y	179	ENSP00000303096:H179Y	ENSP00000303096:H179Y	H	+	1	0	OR5A1	58967752	0.912000	0.30974	1.000000	0.80357	0.405000	0.30901	2.914000	0.48797	2.835000	0.97688	0.650000	0.86243	CAC		0.542	OR5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394233.1	NM_001004728		89	156	0	0	0	1	0	89	156					T	59211176	C	T	59211176	3	4	411	1	0	0	0	0	1	0	0	0	11139	594	21	3	537	3	OR5A1	11	59211176	Missense_Mutation	SNP	C	TCGA-VP-A876-01A-11D-A34U-08		59211176	75795340	15	19944											
NTF3	4908	broad.mit.edu	37	chr12	5603608	5603609	+	Frame_Shift_Ins	INS	-	-	C																															gagagccggagcggggagggINScccgccaagtcagcattcca																								rs370431415		TCGA-VP-A876-01A-11D-A34U-08	TCGA-VP-A876-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4de8976-c5ea-45ef-b7c7-38d5fd10cd0b	d15683ba-3e40-4447-bca8-760f87c6c438	g.chr12:5603608_5603609insC	ENST00000331010.6	+	1	311_312	c.228_229insC	c.(229-231)cccfs	p.P77fs	NTF3_ENST00000423158.3_Frame_Shift_Ins_p.P90fs|NTF3_ENST00000535299.1_Intron	NM_002527.4	NP_002518.1	P20783	NTF3_HUMAN	neurotrophin 3	77					activation of MAPK activity (GO:0000187)|activation of protein kinase B activity (GO:0032148)|activation of Ras GTPase activity (GO:0032856)|axon guidance (GO:0007411)|brain development (GO:0007420)|cell-cell signaling (GO:0007267)|enteric nervous system development (GO:0048484)|epidermis development (GO:0008544)|glial cell fate determination (GO:0007403)|induction of positive chemotaxis (GO:0050930)|mechanoreceptor differentiation (GO:0042490)|myelination (GO:0042552)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of peptidyl-tyrosine phosphorylation (GO:0050732)|nerve development (GO:0021675)|nervous system development (GO:0007399)|neuromuscular synaptic transmission (GO:0007274)|peripheral nervous system development (GO:0007422)|positive chemotaxis (GO:0050918)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of glial cell differentiation (GO:0045687)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of receptor internalization (GO:0002092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of synaptic transmission (GO:0050804)|signal transduction (GO:0007165)|smooth muscle cell differentiation (GO:0051145)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytoplasmic membrane-bounded vesicle (GO:0016023)|extracellular region (GO:0005576)	chemoattractant activity (GO:0042056)|growth factor activity (GO:0008083)|receptor binding (GO:0005102)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(3)|upper_aerodigestive_tract(1)	22						AGCGGGGAGGGCCCGCCAAGTC	0.579																																					GBM(194;1104 2182 8339 9578 18493)	ENST00000423158.3																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(3)|upper_aerodigestive_tract(1)	22						c.(265-270)ggccgcfs		neurotrophin 3																																				SO:0001589	frameshift_variant	4908				signal transduction	extracellular region	growth factor activity|neurotrophin receptor binding	g.chr12:5603608_5603609insC		CCDS8538.1, CCDS44806.1	12p13	2014-01-30			ENSG00000185652	ENSG00000185652		"Endogenous ligands"	8023	protein-coding gene	gene with protein product		162660				1889806	Standard	NM_002527		Approved	NGF2	uc001qnk.4	P20783	OTTHUMG00000168649	ENST00000331010.6:c.231dupC	12.37:g.5603611_5603611dupC	ENSP00000328738:p.Pro77fs					NTF3_ENST00000331010.6_Frame_Shift_Ins_p.R77fs|NTF3_ENST00000535299.1_Intron	p.R90fs	NM_001102654.1	NP_001096124.1	P20783	NTF3_HUMAN			2	479_480	+			77					B7Z1T5|Q6FH50	Frame_Shift_Ins	INS	ENST00000331010.6	37	c.267_268insC	CCDS8538.1																																																																																				0.579	NTF3-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000400486.1			9	60						9	60	---	---	---	---	C	5603609	-	C	5603608	7	5	411	1	0	1	1	0	0	0	0	0	10696	1190	42	0	273	0	NTF3	12	5603608	Frame_Shift_Ins	INS	-	TCGA-VP-A876-01A-11D-A34U-08		5603608	128248287	16	19945											
EMG1	10436	broad.mit.edu	37	chr12	7080212	7080213	+	Splice_Site	INS	-	-	C																															acaagatcggaggccgtagtINSttattgtggtgctggaaggg																								rs11428482|rs374779752|rs17857448		TCGA-VP-A876-01A-11D-A34U-08	TCGA-VP-A876-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4de8976-c5ea-45ef-b7c7-38d5fd10cd0b	d15683ba-3e40-4447-bca8-760f87c6c438	g.chr12:7080212_7080213insC	ENST00000261406.6	+	2	267_268	c.124_125insC	c.(124-126)ttt>tCtt	p.F42fs	PHB2_ENST00000544134.1_5'Flank|PHB2_ENST00000535923.1_5'Flank|PHB2_ENST00000399433.2_5'Flank|PHB2_ENST00000440277.1_5'Flank|PHB2_ENST00000546111.1_5'Flank|PHB2_ENST00000542912.1_5'Flank|EMG1_ENST00000546220.1_3'UTR	NM_006331.7	NP_006322.4			EMG1 N1-specific pseudouridine methyltransferase																		GAGGCCGTAGTTTATTGTGGTG	0.569																																						ENST00000546220.1																			0													EMG1 N1-specific pseudouridine methyltransferase				3746,4		1873,0,2						5.4	1		dbSNP_120	28	7902,2		3951,0,1	no	frameshift	EMG1	NM_006331.7		5824,0,3	A1A1,A1R,RR		0.0253,0.1067,0.0515				11648,6				SO:0001630	splice_region_variant	10436				ribosomal small subunit biogenesis	cytoplasm|nucleolus	rRNA (pseudouridine) methyltransferase activity|rRNA binding	g.chr12:7080212_7080213insC	U72514	CCDS73430.1	12p13	2013-05-22	2013-05-22			ENSG00000126749			16912	protein-coding gene	gene with protein product		611531	"EMG1 nucleolar protein homolog (S. cerevisiae)"			9074930, 11935223, 19463982	Standard	NM_006331		Approved	C2F, NEP1, Grcc2f	uc001qsh.4	Q92979		ENST00000261406.6:c.124-1->C	12.37:g.7080212_7080213insC						U47924.28_ENST00000261406.6_lincRNA|U47924.19_ENST00000564245.1_RNA				Q92979	NEP1_HUMAN			0	157_158	+									RNA	INS	ENST00000261406.6	37																																																																																						0.569	EMG1-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_006331	Frame_Shift_Ins	4	9						4	9	---	---	---	---	C	7080213	-	C	7080212	8	5	411	1	0	1	1	0	0	0	1	0	5090	1722	60	0	128	0	EMG1	12	7080212	Splice_Site	INS	-	TCGA-VP-A876-01A-11D-A34U-08	1476604	7080212	126771683	17	19946											
GCN1L1	10985	broad.mit.edu	37	chr12	120568995	120568995	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cccgaatgccttaccctgtcCgccgtggcactgctcaggat	6	9	10	16	3	1	0	1	0	0	0	2	2	2	1	5	2	3	2	5	2	2	1	rs372015112		TCGA-VP-A876-01A-11D-A34U-08	TCGA-VP-A876-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4de8976-c5ea-45ef-b7c7-38d5fd10cd0b	d15683ba-3e40-4447-bca8-760f87c6c438	g.chr12:120568995C>T	ENST00000300648.6	-	55	7569	c.7557G>A	c.(7555-7557)gcG>gcA	p.A2519A		NM_006836.1	NP_006827	Q92616	GCN1L_HUMAN	GCN1 general control of amino-acid synthesis 1-like 1 (yeast)	2519					regulation of translation (GO:0006417)|translation (GO:0006412)	cytoplasm (GO:0005737)|membrane (GO:0016020)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)			NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TTACCCTGTCCGCCGTGGCAC	0.582																																						ENST00000300648.6																			0				NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94						c.(7555-7557)gcG>gcA		GCN1 general control of amino-acid synthesis 1-like 1 (yeast)		C		0,4208		0,0,2104	74	79	77		7557	-0.9	1	12		77	1,8415		0,1,4207	no	coding-synonymous	GCN1L1	NM_006836.1		0,1,6311	TT,TC,CC		0.0119,0.0,0.0079		2519/2672	120568995	1,12623	2104	4208	6312	SO:0001819	synonymous_variant	10985				regulation of translation	ribosome	protein binding|translation factor activity, nucleic acid binding	g.chr12:120568995C>T	U77700	CCDS41847.1	12q24.2	2008-07-03	2001-11-28						4199	protein-coding gene	gene with protein product		605614	"GCN1 (general control of amino-acid synthesis 1, yeast)-like 1"			9234705	Standard	NM_006836		Approved	KIAA0219, GCN1, GCN1L	uc001txo.3	Q92616	OTTHUMG00000169338	ENST00000300648.6:c.7557G>A	12.37:g.120568995C>T							p.A2519A	NM_006836.1	NP_006827.1	Q92616	GCN1L_HUMAN			55	7569	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		2519					A8KAY1|O95001|O95651|Q6P2S3|Q86X65|Q8N5I5|Q8WU80|Q99736|Q9UE60	Silent	SNP	ENST00000300648.6	37	c.7557G>A	CCDS41847.1																																																																																				0.582	GCN1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403592.1			7	57	0	0	0	1	0	7	57					T	120568995	C	T	120568995	2	4	411	1	0	0	0	0	0	0	0	1	6299	639	23	2		2	GCN1L1	12	120568995	Silent	SNP	C	TCGA-VP-A876-01A-11D-A34U-08	113488783	120568995	13282900	18	19947											
NALCN	259232	broad.mit.edu	37	chr13	101890183	101890183	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aattacgagtagtagttcgaAtttgtggagagatgagctaa	14	12	12	3	2	0	2	0	1	0	1	1	6	0	3	0	1	2	4	0	1	6	6			TCGA-VP-A876-01A-11D-A34U-08	TCGA-VP-A876-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4de8976-c5ea-45ef-b7c7-38d5fd10cd0b	d15683ba-3e40-4447-bca8-760f87c6c438	g.chr13:101890183A>T	ENST00000251127.6	-	12	1438	c.1357T>A	c.(1357-1359)Ttc>Atc	p.F453I	NALCN_ENST00000376196.3_Missense_Mutation_p.F453I|NALCN_ENST00000470333.1_5'UTR	NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	453					calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|cell death (GO:0008219)|ion transmembrane transport (GO:0034220)|membrane depolarization during action potential (GO:0086010)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium channel activity (GO:0005272)|voltage-gated calcium channel activity (GO:0005245)			NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					AGTAGTTCGAATTTGTGGAGA	0.348																																						ENST00000251127.6																			0				NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177						c.(1357-1359)Ttc>Atc		sodium leak channel, non-selective							164	175	172					13																	101890183		2203	4300	6503	SO:0001583	missense	259232					integral to membrane	sodium channel activity|voltage-gated ion channel activity	g.chr13:101890183A>T	AY141972	CCDS9498.1	13q32.3	2012-02-21	2007-04-26	2007-04-26	ENSG00000102452	ENSG00000102452		"Ion channels / Sodium leak channels, non-selective"	19082	protein-coding gene	gene with protein product		611549	"voltage gated channel like 1"	VGCNL1		17448995	Standard	XM_006719943		Approved	bA430M15.1, CanIon	uc001vox.1	Q8IZF0	OTTHUMG00000017295	ENST00000251127.6:c.1357T>A	13.37:g.101890183A>T	ENSP00000251127:p.Phe453Ile					NALCN_ENST00000376196.3_Missense_Mutation_p.F453I|NALCN_ENST00000470333.1_5'UTR	p.F453I	NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN			12	1438	-	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		453					Q6P2S6|Q6ZMI7|Q8IZZ1|Q8TAH1	Missense_Mutation	SNP	ENST00000251127.6	37	c.1357T>A	CCDS9498.1	.	.	.	.	.	.	.	.	.	.	A	21.7	4.189626	0.78789	.	.	ENSG00000102452	ENST00000251127;ENST00000376196	D;D	0.98362	-4.89;-4.89	5.24	5.24	0.73138	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.98852	0.9612	M	0.80422	2.495	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.995;0.999;0.999	D	0.99852	1.1073	10	0.87932	D	0	.	15.4116	0.74929	1.0:0.0:0.0:0.0	.	453;453;453	F2Z323;B3KSZ6;Q8IZF0	.;.;NALCN_HUMAN	I	453	ENSP00000251127:F453I;ENSP00000365367:F453I	ENSP00000251127:F453I	F	-	1	0	NALCN	100688184	1.000000	0.71417	0.995000	0.50966	0.479000	0.33129	8.904000	0.92590	2.096000	0.63516	0.402000	0.26972	TTC		0.348	NALCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045663.2	NM_052867		4	172	0	0	0	1	0	4	172					T	101890183	A	T	101890183	3	4	411	1	0	0	0	0	1	0	0	0	10148	101	4	5	3991	5	NALCN	13	101890183	Missense_Mutation	SNP	A	TCGA-VP-A876-01A-11D-A34U-08		101890183	13279695	19	19948											
PYGL	5836	broad.mit.edu	37	chr14	51376765	51376765	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aacttcatattgcctgtcccCgaggcttcggtgcctgcagt	6	12	10	13	2	1	0	1	0	0	0	3	1	2	0	4	2	4	2	4	2	2	4	rs531973926	byFrequency	TCGA-VP-A876-01A-11D-A34U-08	TCGA-VP-A876-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4de8976-c5ea-45ef-b7c7-38d5fd10cd0b	d15683ba-3e40-4447-bca8-760f87c6c438	g.chr14:51376765C>A	ENST00000216392.7	-	17	2357	c.2025G>T	c.(2023-2025)tcG>tcT	p.S675S	PYGL_ENST00000532462.1_Silent_p.S675S|PYGL_ENST00000544180.2_Silent_p.S641S|RP11-218E20.5_ENST00000557343.1_RNA	NM_002863.4	NP_002854.3	P06737	PYGL_HUMAN	phosphorylase, glycogen, liver	675					5-phosphoribose 1-diphosphate biosynthetic process (GO:0006015)|carbohydrate metabolic process (GO:0005975)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|glycogen metabolic process (GO:0005977)|necroptotic process (GO:0070266)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	AMP binding (GO:0016208)|ATP binding (GO:0005524)|bile acid binding (GO:0032052)|drug binding (GO:0008144)|glucose binding (GO:0005536)|glycogen phosphorylase activity (GO:0008184)|protein homodimerization activity (GO:0042803)|purine nucleobase binding (GO:0002060)|pyridoxal phosphate binding (GO:0030170)|vitamin binding (GO:0019842)			NS(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)|skin(3)	25	all_epithelial(31;0.00825)|Breast(41;0.148)				Adenosine monophosphate(DB00131)	TGCCTGTCCCCGAGGCTTCGG	0.478																																						ENST00000216392.7																			0				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)|skin(3)	25						c.(2023-2025)tcG>tcT		phosphorylase, glycogen, liver	Adenosine monophosphate(DB00131)|Pyridoxal Phosphate(DB00114)|Riboflavin(DB00140)						154	142	146					14																	51376765		2203	4300	6503	SO:0001819	synonymous_variant	5836				glucose homeostasis|glucose metabolic process|glycogen catabolic process	cytosol|soluble fraction	AMP binding|ATP binding|bile acid binding|drug binding|glucose binding|glycogen phosphorylase activity|protein homodimerization activity|purine base binding|pyridoxal phosphate binding	g.chr14:51376765C>A		CCDS32080.1, CCDS53894.1	14q11.2-q24.3	2013-03-01	2008-07-31		ENSG00000100504	ENSG00000100504	2.4.1.1	"Glycogen phosphorylases"	9725	protein-coding gene	gene with protein product	"Hers disease", "glycogen storage disease type VI", "glycogen phosphorylase, liver form"	613741	"phosphorylase, glycogen; liver"			2877458	Standard	NM_002863		Approved		uc001wyu.3	P06737	OTTHUMG00000166596	ENST00000216392.7:c.2025G>T	14.37:g.51376765C>A						PYGL_ENST00000532462.1_Silent_p.S675S|PYGL_ENST00000544180.2_Silent_p.S641S	p.S675S	NM_002863.4	NP_002854.3	P06737	PYGL_HUMAN			17	2357	-	all_epithelial(31;0.00825)|Breast(41;0.148)		675					A6NDQ4|B4DUB7|F5H816|O60567|O60752|O60913|Q501V9|Q641R5|Q96G82	Silent	SNP	ENST00000216392.7	37	c.2025G>T	CCDS32080.1																																																																																				0.478	PYGL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390654.3	NM_002863		9	127	1	0	2.52707e-12	1	2.63938e-12	9	127					A	51376765	C	A	51376765	2	1	411	1	0	0	0	0	0	0	0	1	12861	639	23	5		5	PYGL	14	51376765	Silent	SNP	C	TCGA-VP-A876-01A-11D-A34U-08		51376765	55972775	20	19949											
KIAA1024	23251	broad.mit.edu	37	chr15	79749547	79749547	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gggaacccaagaagccaggcGctgtctagggaagcccaaca	13	3	13	12	1	1	1	0	0	1	1	1	3	1	3	3	3	4	1	3	3	6	1			TCGA-VP-A876-01A-11D-A34U-08	TCGA-VP-A876-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4de8976-c5ea-45ef-b7c7-38d5fd10cd0b	d15683ba-3e40-4447-bca8-760f87c6c438	g.chr15:79749547G>A	ENST00000305428.3	+	2	1133	c.1058G>A	c.(1057-1059)cGc>cAc	p.R353H		NM_015206.2	NP_056021.1	Q9UPX6	K1024_HUMAN	KIAA1024	353						integral component of membrane (GO:0016021)				central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(2)|pancreas(2)|prostate(1)	49						GAAGCCAGGCGCTGTCTAGGG	0.512																																						ENST00000305428.3																			0				central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(2)|pancreas(2)|prostate(1)	49						c.(1057-1059)cGc>cAc		KIAA1024							62	67	65					15																	79749547		2196	4293	6489	SO:0001583	missense	23251					integral to membrane		g.chr15:79749547G>A	AB028947	CCDS32306.1	15q25.1	2007-12-12				ENSG00000169330			29172	protein-coding gene	gene with protein product						10470851	Standard	NM_015206		Approved		uc002bew.1	Q9UPX6		ENST00000305428.3:c.1058G>A	15.37:g.79749547G>A	ENSP00000307461:p.Arg353His						p.R353H	NM_015206.2	NP_056021.1	Q9UPX6	K1024_HUMAN			2	1133	+			353					A7MD43	Missense_Mutation	SNP	ENST00000305428.3	37	c.1058G>A	CCDS32306.1	.	.	.	.	.	.	.	.	.	.	G	10.49	1.364120	0.24684	.	.	ENSG00000169330	ENST00000305428	T	0.38722	1.12	5.29	2.4	0.29515	.	0.250097	0.30723	N	0.009015	T	0.34861	0.0912	L	0.56769	1.78	0.18873	N	0.999989	B	0.14012	0.009	B	0.08055	0.003	T	0.21381	-1.0247	9	.	.	.	.	8.9039	0.35512	0.3216:0.0:0.6784:0.0	.	353	Q9UPX6	K1024_HUMAN	H	353	ENSP00000307461:R353H	.	R	+	2	0	KIAA1024	77536602	1.000000	0.71417	0.044000	0.18714	0.847000	0.48162	1.729000	0.38115	0.611000	0.30052	0.591000	0.81541	CGC		0.512	KIAA1024-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416718.1	NM_015206		6	73	0	0	0	1	0	6	73					A	79749547	G	A	79749547	3	1	411	1	0	0	0	0	1	0	0	0	8205	1087	38	1	1060	1	KIAA1024	15	79749547	Missense_Mutation	SNP	G	TCGA-VP-A876-01A-11D-A34U-08		79749547	22781845	21	19950											
TGFB1I1	7041	broad.mit.edu	37	chr16	31485243	31485243	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggtgtcttgggtaccgggctCtgtgagctagatcggttgct	4	13	16	8	2	2	2	0	1	2	1	3	2	2	2	1	4	3	5	1	4	2	4			TCGA-VP-A876-01A-11D-A34U-08	TCGA-VP-A876-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4de8976-c5ea-45ef-b7c7-38d5fd10cd0b	d15683ba-3e40-4447-bca8-760f87c6c438	g.chr16:31485243C>T	ENST00000394863.3	+	4	400	c.270C>T	c.(268-270)ctC>ctT	p.L90L	TGFB1I1_ENST00000394858.2_Silent_p.L73L|TGFB1I1_ENST00000567607.1_Silent_p.L73L|TGFB1I1_ENST00000361773.3_Silent_p.L73L	NM_001042454.2	NP_001035919.1	O43294	TGFI1_HUMAN	transforming growth factor beta 1 induced transcript 1	90	Interaction with PTK2/FAK1. {ECO:0000250}.|Interaction with PTK2B/PYK2.|Transcription activation. {ECO:0000250}.				androgen receptor signaling pathway (GO:0030521)|cell adhesion (GO:0007155)|cell fate commitment (GO:0045165)|epithelial cell differentiation (GO:0030855)|morphogenesis of embryonic epithelium (GO:0016331)|negative regulation of cell proliferation (GO:0008285)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|response to heat (GO:0009408)|transcription from RNA polymerase II promoter (GO:0006366)|ubiquitin-dependent SMAD protein catabolic process (GO:0030579)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)|intracellular (GO:0005622)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|I-SMAD binding (GO:0070411)|Roundabout binding (GO:0048495)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			lung(8)|upper_aerodigestive_tract(1)	9						GTACCGGGCTCTGTGAGCTAG	0.597																																						ENST00000394863.3																			0				lung(8)|upper_aerodigestive_tract(1)	9						c.(268-270)ctC>ctT		transforming growth factor beta 1 induced transcript 1							66	71	69					16																	31485243		2197	4300	6497	SO:0001819	synonymous_variant	7041				androgen receptor signaling pathway|cell adhesion|negative regulation of cell proliferation|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|positive regulation of transforming growth factor beta receptor signaling pathway|transcription from RNA polymerase II promoter|ubiquitin-dependent SMAD protein catabolic process|Wnt receptor signaling pathway	cytoplasm|cytoskeleton|focal adhesion|nuclear matrix	androgen receptor binding|I-SMAD binding|Roundabout binding|transcription coactivator activity|zinc ion binding	g.chr16:31485243C>T	AB007836	CCDS10713.1, CCDS42156.1	16p11	2008-02-05			ENSG00000140682	ENSG00000140682			11767	protein-coding gene	gene with protein product		602353				9422762, 10075738	Standard	NM_015927		Approved	Hic-5, TSC-5, ARA55, HIC-5	uc002ecd.2	O43294	OTTHUMG00000132467	ENST00000394863.3:c.270C>T	16.37:g.31485243C>T						TGFB1I1_ENST00000394858.2_Silent_p.L73L|TGFB1I1_ENST00000361773.3_Silent_p.L73L|TGFB1I1_ENST00000567607.1_Silent_p.L73L	p.L90L	NM_001042454.2	NP_001035919.1	O43294	TGFI1_HUMAN			4	400	+			90			Interaction with PTK2 (By similarity).|Interaction with PTK2B.|Transcription activation (By similarity).		B2R8D5|Q9BPW3|Q9Y2V5	Silent	SNP	ENST00000394863.3	37	c.270C>T	CCDS42156.1																																																																																				0.597	TGFB1I1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255630.3			7	87	0	0	0	1	0	7	87					T	31485243	C	T	31485243	2	4	411	1	0	0	0	0	0	0	0	1	15814	900	32	3		3	TGFB1I1	16	31485243	Silent	SNP	C	TCGA-VP-A876-01A-11D-A34U-08		31485243	58869510	22	19951											
PHLPP2	23035	broad.mit.edu	37	chr16	71718413	71718413	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gttgccatcgctggtactcgGccaaagtctcgaagctgaca	9	9	11	12	3	1	1	0	1	1	0	4	2	1	1	2	2	3	4	2	2	3	2			TCGA-VP-A876-01A-11D-A34U-08	TCGA-VP-A876-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4de8976-c5ea-45ef-b7c7-38d5fd10cd0b	d15683ba-3e40-4447-bca8-760f87c6c438	g.chr16:71718413G>A	ENST00000568954.1	-	5	1079	c.701C>T	c.(700-702)gCc>gTc	p.A234V	PHLPP2_ENST00000356272.3_Missense_Mutation_p.A234V|PHLPP2_ENST00000567016.1_Missense_Mutation_p.A269V|PHLPP2_ENST00000393524.2_Missense_Mutation_p.A234V|PHLPP2_ENST00000360429.3_Missense_Mutation_p.A234V			Q6ZVD8	PHLP2_HUMAN	PH domain and leucine rich repeat protein phosphatase 2	234	PH.				epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment membrane (GO:0042622)	metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)			central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37						CTGGTACTCGGCCAAAGTCTC	0.517																																						ENST00000393524.2																			0				central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37						c.(700-702)gCc>gTc		PH domain and leucine rich repeat protein phosphatase 2							102	100	100					16																	71718413		2198	4300	6498	SO:0001583	missense	23035					cytoplasm|membrane|nucleus	metal ion binding|phosphoprotein phosphatase activity	g.chr16:71718413G>A	BX647823	CCDS32479.1, CCDS73910.1	16q22.2	2013-01-11	2009-05-26	2009-05-26	ENSG00000040199	ENSG00000040199		"Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent", "Pleckstrin homology (PH) domain containing"	29149	protein-coding gene	gene with protein product		611066	"PH domain and leucine rich repeat protein phosphatase-like"	PHLPPL		17386267	Standard	NM_001289003		Approved	KIAA0931	uc002fax.3	Q6ZVD8		ENST00000568954.1:c.701C>T	16.37:g.71718413G>A	ENSP00000457991:p.Ala234Val					PHLPP2_ENST00000360429.3_Missense_Mutation_p.A234V|PHLPP2_ENST00000356272.3_Missense_Mutation_p.A234V|PHLPP2_ENST00000568954.1_Missense_Mutation_p.A234V|PHLPP2_ENST00000567016.1_Missense_Mutation_p.A269V	p.A234V			Q6ZVD8	PHLP2_HUMAN			4	1434	-			234			PH.		A1L374|Q9NV17|Q9Y2E3	Missense_Mutation	SNP	ENST00000568954.1	37	c.701C>T	CCDS32479.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.380488	0.82792	.	.	ENSG00000040199	ENST00000299971;ENST00000360429;ENST00000356272;ENST00000393524;ENST00000538126	T;T;T	0.32515	1.45;1.45;1.45	4.97	4.97	0.65823	Pleckstrin homology-type (1);	0.107907	0.64402	D	0.000006	T	0.41511	0.1162	L	0.44542	1.39	0.45554	D	0.998504	D;D	0.67145	0.996;0.992	P;P	0.61070	0.883;0.703	T	0.06303	-1.0834	10	0.27785	T	0.31	-8.2737	13.3471	0.60580	0.0:0.1582:0.8418:0.0	.	234;234	Q6ZVD8-3;Q6ZVD8	.;PHLP2_HUMAN	V	41;234;234;234;234	ENSP00000353610:A234V;ENSP00000348611:A234V;ENSP00000377159:A234V	ENSP00000299971:A41V	A	-	2	0	PHLPP2	70275914	1.000000	0.71417	0.997000	0.53966	0.922000	0.55478	7.771000	0.85420	2.450000	0.82876	0.561000	0.74099	GCC		0.517	PHLPP2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000434139.1	NM_015020		3	50	0	0	0	1	0	3	50					A	71718413	G	A	71718413	3	1	411	1	0	0	0	0	1	0	0	0	11855	1203	42	3	3330	3	PHLPP2	16	71718413	Missense_Mutation	SNP	G	TCGA-VP-A876-01A-11D-A34U-08	40233170	71718413	18636340	23	19952											
TP53	7157	broad.mit.edu	37	chr17	7577126	7577126	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacaggcacaaacacgcaccTcaaagctgttccgtcccagt	12	6	8	15	2	1	0	1	0	0	0	3	1	3	0	3	1	2	4	3	1	2	1			TCGA-VP-A876-01A-11D-A34U-08	TCGA-VP-A876-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4de8976-c5ea-45ef-b7c7-38d5fd10cd0b	d15683ba-3e40-4447-bca8-760f87c6c438	g.chr17:7577126T>A	ENST00000269305.4	-	8	1001	c.812A>T	c.(811-813)gAg>gTg	p.E271V	TP53_ENST00000359597.4_Missense_Mutation_p.E271V|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000420246.2_Missense_Mutation_p.E271V|TP53_ENST00000455263.2_Missense_Mutation_p.E271V|TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Missense_Mutation_p.E271V	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	271	Interaction with AXIN1. {ECO:0000250}.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		E -> A (in sporadic cancers; somatic mutation).|E -> D (in sporadic cancers; somatic mutation).|E -> G (in sporadic cancers; somatic mutation).|E -> K (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974}.|E -> P (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|E -> Q (in sporadic cancers; somatic mutation).|E -> R (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|E -> V (in an osteosarcoma with no family history; germline mutation and in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.0?(8)|p.E271V(6)|p.E271G(3)|p.?(2)|p.E271fs*74(2)|p.G266_E271delGRNSFE(2)|p.F270fs*72(1)|p.E271fs*73(1)|p.L265_K305del41(1)|p.E271P(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.E271del(1)|p.E271*(1)|p.S269fs*34(1)|p.F270_D281del12(1)|p.E271fs*34(1)|p.E271_R273delEVR(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	AACACGCACCTCAAAGCTGTT	0.532		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"Mis, N, F"	tumor protein p53			"L, E, M, O"		"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"	"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"		35	Substitution - Missense(10)|Whole gene deletion(8)|Deletion - Frameshift(8)|Deletion - In frame(6)|Unknown(2)|Substitution - Nonsense(1)	p.0?(8)|p.E271V(6)|p.E271G(3)|p.?(2)|p.E271fs*74(2)|p.G266_E271delGRNSFE(2)|p.F270fs*72(1)|p.E271fs*73(1)|p.L265_K305del41(1)|p.E271P(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.E271del(1)|p.E271*(1)|p.S269fs*34(1)|p.F270_D281del12(1)|p.E271fs*34(1)|p.E271_R273delEVR(1)	breast(5)|central_nervous_system(4)|urinary_tract(4)|bone(4)|upper_aerodigestive_tract(3)|large_intestine(3)|stomach(3)|haematopoietic_and_lymphoid_tissue(3)|oesophagus(2)|liver(2)|salivary_gland(1)|skin(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185	GRCh37	CM942136	TP53	M		c.(811-813)gAg>gTg	Other conserved DNA damage response genes	tumor protein p53							60	52	55					17																	7577126		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577126T>A	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"Li-Fraumeni syndrome"	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.812A>T	17.37:g.7577126T>A	ENSP00000269305:p.Glu271Val	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_ENST00000455263.2_Missense_Mutation_p.E271V|TP53_ENST00000359597.4_Missense_Mutation_p.E271V|TP53_ENST00000269305.4_Missense_Mutation_p.E271V|TP53_ENST00000445888.2_Missense_Mutation_p.E271V|TP53_ENST00000413465.2_Intron	p.E271V	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	8	944	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	271		E -> A (in sporadic cancers; somatic mutation).|E -> D (in sporadic cancers; somatic mutation).|E -> G (in sporadic cancers; somatic mutation).|E -> K (in sporadic cancers; somatic mutation).|E -> P (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|E -> Q (in sporadic cancers; somatic mutation).|E -> R (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|E -> V (in an osteosarcoma with no family history; germline mutation and in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.812A>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	T	26.3	4.727540	0.89390	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99861	-7.26;-7.26;-7.26;-7.26;-7.26;-7.26	5.13	5.13	0.70059	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99857	0.9933	M	0.88979	2.995	0.80722	D	1	D;D;D;D	0.89917	1.0;0.998;1.0;1.0	D;D;D;D	0.97110	0.999;0.992;0.999;1.0	D	0.96447	0.9331	10	0.87932	D	0	-38.0695	12.9367	0.58319	0.0:0.0:0.0:1.0	.	271;271;271;271	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	V	271;271;271;271;271;260;139	ENSP00000352610:E271V;ENSP00000269305:E271V;ENSP00000398846:E271V;ENSP00000391127:E271V;ENSP00000391478:E271V;ENSP00000425104:E139V	ENSP00000269305:E271V	E	-	2	0	TP53	7517851	1.000000	0.71417	1.000000	0.80357	0.881000	0.50899	7.802000	0.85969	2.154000	0.67381	0.379000	0.24179	GAG		0.532	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		12	3	0	0	0	1	0	12	3					A	7577126	T	A	7577126	3	1	411	1	0	0	0	0	1	0	0	0	16378	1551	54	5	474	5	TP53	17	7577126	Missense_Mutation	SNP	T	TCGA-VP-A876-01A-11D-A34U-08		7577126	73618084	24	19953											
KRT19	3880	broad.mit.edu	37	chr17	39680513	39680513	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcgacctcccggttcaatTcttcagtctgcagagagagg	9	9	11	12	2	4	2	2	0	2	2	5	4	5	2	2	2	2	2	2	2	1	3			TCGA-VP-A876-01A-11D-A34U-08	TCGA-VP-A876-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4de8976-c5ea-45ef-b7c7-38d5fd10cd0b	d15683ba-3e40-4447-bca8-760f87c6c438	g.chr17:39680513T>A	ENST00000361566.3	-	5	890	c.830A>T	c.(829-831)gAa>gTa	p.E277V	KRT15_ENST00000254043.3_5'Flank|KRT15_ENST00000393976.2_5'Flank	NM_002276.4	NP_002267.2	P08727	K1C19_HUMAN	keratin 19	277	Coil 2.|Necessary for interaction with PNN.|Rod.				cell differentiation involved in embryonic placenta development (GO:0060706)|response to estrogen (GO:0043627)|sarcomere organization (GO:0045214)|viral process (GO:0016032)	cell periphery (GO:0071944)|costamere (GO:0043034)|dystrophin-associated glycoprotein complex (GO:0016010)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|sarcolemma (GO:0042383)|Z disc (GO:0030018)	structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(2)	12		Breast(137;0.00038)				CCGGTTCAATTCTTCAGTCTG	0.572																																						ENST00000361566.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(2)	12						c.(829-831)gAa>gTa		keratin 19							57	60	59					17																	39680513		2203	4300	6503	SO:0001583	missense	3880							g.chr17:39680513T>A		CCDS11399.1	17q21.2	2013-06-20			ENSG00000171345	ENSG00000171345		"-", "Intermediate filaments type I, keratins (acidic)"	6436	protein-coding gene	gene with protein product	"keratin, type I cytoskeletal 19", "keratin, type I, 40-kd", "cytokeratin 19", "40-kDa keratin intermediate filament"	148020				16831889	Standard	NM_002276		Approved	K19, CK19, K1CS, MGC15366		P08727	OTTHUMG00000133422	ENST00000361566.3:c.830A>T	17.37:g.39680513T>A	ENSP00000355124:p.Glu277Val						p.E277V	NM_002276.4	NP_002267.2					5	890	-		Breast(137;0.00038)						B2R874|Q5XG83|Q6NW33|Q7L5M9|Q96A53|Q96FV1|Q9BYF9|Q9P1Y4	Missense_Mutation	SNP	ENST00000361566.3	37	c.830A>T	CCDS11399.1	.	.	.	.	.	.	.	.	.	.	T	16.84	3.233794	0.58886	.	.	ENSG00000171345	ENST00000361566	D	0.89939	-2.59	5.25	1.48	0.22813	Prefoldin (1);Filament (1);	0.449327	0.18729	N	0.132800	D	0.87908	0.6296	M	0.78456	2.415	0.41517	D	0.988371	B;B	0.33919	0.076;0.432	B;B	0.40940	0.046;0.344	D	0.85583	0.1241	10	0.87932	D	0	.	4.0528	0.09803	0.1257:0.071:0.1309:0.6723	.	440;277	B4DE59;P08727	.;K1C19_HUMAN	V	277	ENSP00000355124:E277V	ENSP00000355124:E277V	E	-	2	0	KRT19	36934039	0.000000	0.05858	0.998000	0.56505	0.001000	0.01503	0.405000	0.21015	0.817000	0.34445	-0.503000	0.04515	GAA		0.572	KRT19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257285.1	NM_002276		4	45	0	0	0	1	0	4	45					A	39680513	T	A	39680513	3	1	411	1	0	0	0	0	1	0	0	0	8456	1783	62	5	380	5	KRT19	17	39680513	Missense_Mutation	SNP	T	TCGA-VP-A876-01A-11D-A34U-08	32103387	39680513	41514697	25	19954											
ADAM11	4185	broad.mit.edu	37	chr17	42852594	42852594	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atccaggttctacctgccccGcaagttctcgcgctgtagca	7	10	9	15	3	2	0	0	0	2	0	4	0	3	0	4	1	3	6	4	1	3	4			TCGA-VP-A876-01A-11D-A34U-08	TCGA-VP-A876-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4de8976-c5ea-45ef-b7c7-38d5fd10cd0b	d15683ba-3e40-4447-bca8-760f87c6c438	g.chr17:42852594G>C	ENST00000200557.6	+	15	1404	c.1235G>C	c.(1234-1236)cGc>cCc	p.R412P	ADAM11_ENST00000535346.1_Missense_Mutation_p.R212P	NM_002390.4	NP_002381.2	O75078	ADA11_HUMAN	ADAM metallopeptidase domain 11	412	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				integrin-mediated signaling pathway (GO:0007229)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(15)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33		Prostate(33;0.0959)				TACCTGCCCCGCAAGTTCTCG	0.642											OREG0024464	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000200557.6																			0				breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(15)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						c.(1234-1236)cGc>cCc		ADAM metallopeptidase domain 11							88	85	86					17																	42852594		2203	4300	6503	SO:0001583	missense	4185				integrin-mediated signaling pathway|proteolysis	integral to membrane|plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding	g.chr17:42852594G>C	D17390	CCDS11486.1	17q21.3	2014-08-12	2005-08-18		ENSG00000073670			"ADAM metallopeptidase domain containing"	189	protein-coding gene	gene with protein product	"metalloproteinase-like, disintegrin-like, cysteine-rich protein"	155120	"a disintegrin and metalloproteinase domain 11"	MDC		8252040	Standard	XM_005257373		Approved		uc002ihh.3	O75078	OTTHUMG00000179038	ENST00000200557.6:c.1235G>C	17.37:g.42852594G>C	ENSP00000200557:p.Arg412Pro		OREG0024464	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	911	ADAM11_ENST00000535346.1_Missense_Mutation_p.R212P	p.R412P	NM_002390.4	NP_002381.2	O75078	ADA11_HUMAN			15	1404	+		Prostate(33;0.0959)	412			Peptidase M12B.		Q14808|Q14809|Q14810	Missense_Mutation	SNP	ENST00000200557.6	37	c.1235G>C	CCDS11486.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.952290	0.73787	.	.	ENSG00000073670	ENST00000200557;ENST00000535346;ENST00000355638	T;T	0.09630	2.96;2.96	4.77	3.73	0.42828	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.125415	0.53938	D	0.000054	T	0.31702	0.0805	M	0.88241	2.94	0.49299	D	0.999771	D;P	0.58268	0.982;0.937	D;P	0.64144	0.922;0.826	T	0.03945	-1.0990	10	0.52906	T	0.07	.	8.1221	0.30978	0.1898:0.0:0.8102:0.0	.	212;412	B4DKD2;O75078	.;ADA11_HUMAN	P	412;212;312	ENSP00000200557:R412P;ENSP00000443773:R212P	ENSP00000200557:R412P	R	+	2	0	ADAM11	40208120	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	3.588000	0.53964	2.479000	0.83701	0.549000	0.68633	CGC		0.642	ADAM11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444531.1	NM_002390		21	56	0	0	0	1	0	21	56					C	42852594	G	C	42852594	3	2	411	1	0	0	0	0	1	0	0	0	235	1087	38	5	1293	5	ADAM11	17	42852594	Missense_Mutation	SNP	G	TCGA-VP-A876-01A-11D-A34U-08	3172081	42852594	38342616	26	19955											
ZNF790	388536	broad.mit.edu	37	chr19	37310530	37310530	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcttatgaccagtaagactcGaacgtaaactaaaagacttc	16	10	6	9	2	1	3	0	1	1	2	3	4	1	3	1	0	2	2	1	0	7	5	rs200810061		TCGA-VP-A876-01A-11D-A34U-08	TCGA-VP-A876-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4de8976-c5ea-45ef-b7c7-38d5fd10cd0b	d15683ba-3e40-4447-bca8-760f87c6c438	g.chr19:37310530G>A	ENST00000356725.4	-	5	836	c.716C>T	c.(715-717)tCg>tTg	p.S239L	CTD-2162K18.5_ENST00000588906.1_RNA|CTD-2162K18.5_ENST00000587278.1_RNA	NM_001242802.1|NM_206894.3	NP_001229731.1|NP_996777.2	Q6PG37	ZN790_HUMAN	zinc finger protein 790	239					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			biliary_tract(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(7)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	32	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			AGTAAGACTCGAACGTAAACT	0.348																																						ENST00000356725.4																			0				biliary_tract(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(7)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	32						c.(715-717)tCg>tTg		zinc finger protein 790		G	LEU/SER,LEU/SER,LEU/SER,LEU/SER	1,4405	2.1+/-5.4	0,1,2202	57	59	58		716,716,716,716	1.9	0	19		58	0,8600		0,0,4300	no	missense,missense,missense,missense	ZNF790	NM_001242800.1,NM_001242801.1,NM_001242802.1,NM_206894.3	145,145,145,145	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging	239/637,239/637,239/637,239/637	37310530	1,13005	2203	4300	6503	SO:0001583	missense	388536				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:37310530G>A	BC057245	CCDS12496.1	19q13.12	2013-01-08			ENSG00000197863	ENSG00000197863		"Zinc fingers, C2H2-type", "-"	33114	protein-coding gene	gene with protein product							Standard	NM_206894		Approved	MGC62100, FLJ20350	uc021utm.1	Q6PG37	OTTHUMG00000165616	ENST00000356725.4:c.716C>T	19.37:g.37310530G>A	ENSP00000349161:p.Ser239Leu					CTD-2162K18.5_ENST00000588906.1_RNA|CTD-2162K18.5_ENST00000587278.1_RNA	p.S239L	NM_001242802.1|NM_206894.3	NP_001229731.1|NP_996777.2	Q6PG37	ZN790_HUMAN	COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)		5	836	-	Esophageal squamous(110;0.183)		239						Missense_Mutation	SNP	ENST00000356725.4	37	c.716C>T	CCDS12496.1	.	.	.	.	.	.	.	.	.	.	G	12.99	2.102064	0.37048	2.27E-4	0.0	ENSG00000197863	ENST00000356725	T	0.07444	3.19	3.04	1.86	0.25419	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.13543	0.0328	M	0.83852	2.665	0.09310	N	1	D	0.57899	0.981	B	0.44133	0.442	T	0.21586	-1.0241	9	0.72032	D	0.01	.	5.6772	0.17755	0.123:0.2043:0.6726:0.0	.	239	Q6PG37	ZN790_HUMAN	L	239	ENSP00000349161:S239L	ENSP00000349161:S239L	S	-	2	0	ZNF790	42002370	0.000000	0.05858	0.019000	0.16419	0.759000	0.43091	-0.602000	0.05680	1.694000	0.51137	0.491000	0.48974	TCG		0.348	ZNF790-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385341.2	NM_206894		29	43	0	0	0	1	0	29	43					A	37310530	G	A	37310530	3	1	411	1	0	0	0	0	1	0	0	0	18159	1059	37	2	1198	2	ZNF790	19	37310530	Missense_Mutation	SNP	G	TCGA-VP-A876-01A-11D-A34U-08		37310530	21818453	27	19956											
SIRPB1	10326	broad.mit.edu	37	chr20	1559027	1559027	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctccagacttaaactccacGtcgtcagggctccctttccg	7	10	8	16	3	1	1	1	0	0	1	6	1	5	1	4	1	1	2	4	1	2	2			TCGA-VP-A876-01A-11D-A34U-08	TCGA-VP-A876-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4de8976-c5ea-45ef-b7c7-38d5fd10cd0b	d15683ba-3e40-4447-bca8-760f87c6c438	g.chr20:1559027G>A	ENST00000381605.4	-	2	454	c.390C>T	c.(388-390)gaC>gaT	p.D130D	SIRPB1_ENST00000381603.3_Silent_p.D130D|SIRPB1_ENST00000262929.5_Silent_p.D129D|RP4-576H24.4_ENST00000564763.1_Silent_p.D130D	NM_006065.3	NP_006056.2	O00241	SIRB1_HUMAN	signal-regulatory protein beta 1	130	Ig-like V-type.				cell surface receptor signaling pathway (GO:0007166)|innate immune response (GO:0045087)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				central_nervous_system(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	31						TAAACTCCACGTCGTCAGGGC	0.527																																						ENST00000381605.4																			0				central_nervous_system(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	31						c.(388-390)gaC>gaT		signal-regulatory protein beta 1							156	136	143					20																	1559027		2200	4243	6443	SO:0001819	synonymous_variant	10326				cell junction assembly|cell surface receptor linked signaling pathway	integral to plasma membrane	protein binding	g.chr20:1559027G>A	Y10376	CCDS13019.1, CCDS42850.1, CCDS46571.1	20p13	2013-01-11			ENSG00000101307	ENSG00000101307		"Signal-regulatory proteins", "CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C1-set domain containing"	15928	protein-coding gene	gene with protein product		603889				9062191, 16339511	Standard	NM_001083910		Approved	SIRP-BETA-1, CD172b	uc010gai.3	O00241	OTTHUMG00000031676	ENST00000381605.4:c.390C>T	20.37:g.1559027G>A						SIRPB1_ENST00000381603.3_Silent_p.D130D|RP4-576H24.4_ENST00000564763.1_Silent_p.D130D|SIRPB1_ENST00000262929.5_Silent_p.D129D	p.D130D	NM_006065.3	NP_006056.2	O00241	SIRB1_HUMAN			2	454	-			130			Ig-like V-type.		A6NLM2|B2R8V0|Q5TFQ9|Q5TFR0|Q8TB12|Q9H1U5|Q9Y4V0	Silent	SNP	ENST00000381605.4	37	c.390C>T	CCDS13019.1																																																																																				0.527	SIRPB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000077555.2	NM_006065		8	124	0	0	0	1	0	8	124					A	1559027	G	A	1559027	2	1	411	1	0	0	0	0	0	0	0	1	14333	1136	40	1		1	SIRPB1	20	1559027	Silent	SNP	G	TCGA-VP-A876-01A-11D-A34U-08		1559027	61466493	28	19957											
PLCB4	5332	broad.mit.edu	37	chr20	9402051	9402051	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaggaattccgaactcgcatGgttatgaataatggactcaa	15	10	9	7	2	1	1	1	1	0	0	3	4	2	3	1	3	1	2	1	3	7	3			TCGA-VP-A876-01A-11D-A34U-08	TCGA-VP-A876-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4de8976-c5ea-45ef-b7c7-38d5fd10cd0b	d15683ba-3e40-4447-bca8-760f87c6c438	g.chr20:9402051G>C	ENST00000378493.1	+	23	2241	c.2226G>C	c.(2224-2226)atG>atC	p.M742I	PLCB4_ENST00000378501.2_Missense_Mutation_p.M742I|PLCB4_ENST00000278655.4_Missense_Mutation_p.M742I|PLCB4_ENST00000334005.3_Missense_Mutation_p.M742I|PLCB4_ENST00000414679.2_Missense_Mutation_p.M754I|PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000378473.3_Missense_Mutation_p.M754I			Q15147	PLCB4_HUMAN	phospholipase C, beta 4	742	C2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|dendrite (GO:0030425)|nucleus (GO:0005634)|postsynaptic density (GO:0014069)|smooth endoplasmic reticulum (GO:0005790)	calcium ion binding (GO:0005509)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						GAACTCGCATGGTTATGAATA	0.403																																						ENST00000378501.2																			0				NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						c.(2224-2226)atG>atC		phospholipase C, beta 4							142	126	131					20																	9402051		2203	4300	6503	SO:0001583	missense	5332				intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity	g.chr20:9402051G>C		CCDS13104.1, CCDS13105.1, CCDS54447.1	20p12	2008-03-18			ENSG00000101333	ENSG00000101333	3.1.4.11		9059	protein-coding gene	gene with protein product		600810				8530101	Standard	NM_000933		Approved		uc021wam.1	Q15147	OTTHUMG00000031853	ENST00000378493.1:c.2226G>C	20.37:g.9402051G>C	ENSP00000367754:p.Met742Ile					PLCB4_ENST00000334005.3_Missense_Mutation_p.M742I|PLCB4_ENST00000278655.4_Missense_Mutation_p.M742I|PLCB4_ENST00000378473.3_Missense_Mutation_p.M754I|PLCB4_ENST00000414679.2_Missense_Mutation_p.M754I|PLCB4_ENST00000378493.1_Missense_Mutation_p.M742I|PLCB4_ENST00000492632.1_3'UTR	p.M742I	NM_000933.3	NP_000924.3	Q15147	PLCB4_HUMAN			23	2241	+			742			C2.		B7ZLK6|E2QRH8|Q17R56|Q5JYS8|Q5JYS9|Q5JYT0|Q5JYT3|Q5JYT4|Q9BQW5|Q9BQW6|Q9BQW8|Q9UJQ2	Missense_Mutation	SNP	ENST00000378493.1	37	c.2226G>C	CCDS13105.1	.	.	.	.	.	.	.	.	.	.	G	12.84	2.058661	0.36277	.	.	ENSG00000101333	ENST00000334005;ENST00000378473;ENST00000278655;ENST00000378493;ENST00000378501;ENST00000414679	T;T;T;T;T;T	0.66815	-0.23;-0.23;-0.23;-0.23;-0.23;-0.23	5.8	5.8	0.92144	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	T	0.40546	0.1121	N	0.01505	-0.83	0.80722	D	1	B;B;B;B	0.33694	0.073;0.051;0.421;0.097	B;B;B;B	0.31191	0.028;0.004;0.125;0.018	T	0.46965	-0.9153	10	0.14252	T	0.57	.	20.0693	0.97712	0.0:0.0:1.0:0.0	.	754;589;742;742	E2QRH8;Q15147-2;Q15147;Q15147-4	.;.;PLCB4_HUMAN;.	I	742;754;742;742;742;590	ENSP00000334105:M742I;ENSP00000367734:M754I;ENSP00000278655:M742I;ENSP00000367754:M742I;ENSP00000367762:M742I;ENSP00000390616:M590I	ENSP00000278655:M742I	M	+	3	0	PLCB4	9350051	1.000000	0.71417	1.000000	0.80357	0.850000	0.48378	9.869000	0.99810	2.758000	0.94735	0.563000	0.77884	ATG		0.403	PLCB4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000077948.2			6	91	0	0	0	1	0	6	91					C	9402051	G	C	9402051	3	2	411	1	0	0	0	0	1	0	0	0	12030	1348	47	5	2356	5	PLCB4	20	9402051	Missense_Mutation	SNP	G	TCGA-VP-A876-01A-11D-A34U-08	7843024	9402051	53623469	29	19958											
CYTSA	23384	broad.mit.edu	37	chr22	24761555	24761555	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tccacagctttccctgtcctCttctccaacggcatctgtga	6	13	6	16	1	3	1	0	1	3	0	7	1	6	1	4	1	2	2	4	1	1	2			TCGA-VP-A876-01A-11D-A34U-08	TCGA-VP-A876-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4de8976-c5ea-45ef-b7c7-38d5fd10cd0b	d15683ba-3e40-4447-bca8-760f87c6c438	g.chr22:24761555C>T	ENST00000314328.9	+	13	3224	c.2939C>T	c.(2938-2940)tCt>tTt	p.S980F	SPECC1L_ENST00000437398.1_Missense_Mutation_p.S980F|SPECC1L-ADORA2A_ENST00000358654.2_3'UTR|SPECC1L_ENST00000541492.1_Missense_Mutation_p.S980F	NM_001254733.1|NM_015330.3	NP_001241662.1|NP_056145	Q69YQ0	CYTSA_HUMAN	sperm antigen with calponin homology and coiled-coil domains 1-like	980					actin cytoskeleton organization (GO:0030036)|cell cycle (GO:0007049)|cell division (GO:0051301)|cell migration (GO:0016477)|negative regulation of actin filament depolymerization (GO:0030835)|negative regulation of microtubule depolymerization (GO:0007026)	cytoplasm (GO:0005737)|filamentous actin (GO:0031941)|gap junction (GO:0005921)|microtubule organizing center (GO:0005815)				breast(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(6)|ovary(1)|prostate(1)|skin(3)|stomach(2)|urinary_tract(1)	27						TCCCTGTCCTCTTCTCCAACG	0.512																																						ENST00000314328.9																			0				breast(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(6)|ovary(1)|prostate(1)|skin(3)|stomach(2)|urinary_tract(1)	27						c.(2938-2940)tCt>tTt		sperm antigen with calponin homology and coiled-coil domains 1-like							139	104	116					22																	24761555		2203	4300	6503	SO:0001583	missense	23384				cell cycle|cell division			g.chr22:24761555C>T	AK025531	CCDS33619.1, CCDS58797.1	22q11.23	2012-12-20	2010-09-17	2010-09-17	ENSG00000100014	ENSG00000100014			29022	protein-coding gene	gene with protein product	"cytokinesis and spindle organization A", "cytospin A"	614140	"SPECC1-like"			9205841	Standard	NM_001254733		Approved	KIAA0376, CYTSA	uc002zzv.4	Q69YQ0	OTTHUMG00000171450	ENST00000314328.9:c.2939C>T	22.37:g.24761555C>T	ENSP00000325785:p.Ser980Phe					SPECC1L_ENST00000541492.1_Missense_Mutation_p.S980F|SPECC1L_ENST00000437398.1_Missense_Mutation_p.S980F|KB-1896H10.1_ENST00000358654.2_3'UTR	p.S980F	NM_001254733.1|NM_015330.3	NP_001241662.1|NP_056145.3	Q69YQ0	CYTSA_HUMAN			13	3224	+			980					B7Z758|F5H1H6|O15081	Missense_Mutation	SNP	ENST00000314328.9	37	c.2939C>T	CCDS33619.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.393024	0.83011	.	.	ENSG00000100014	ENST00000437398;ENST00000314328;ENST00000541492	T;T;T	0.62788	0.0;0.0;2.98	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	T	0.60353	0.2262	N	0.08118	0	0.58432	D	0.999999	D;D	0.57899	0.981;0.968	P;P	0.57720	0.826;0.674	T	0.69614	-0.5098	10	0.87932	D	0	-14.9894	18.4846	0.90824	0.0:1.0:0.0:0.0	.	980;980	F5H1H6;Q69YQ0	.;CYTSA_HUMAN	F	980	ENSP00000393363:S980F;ENSP00000325785:S980F;ENSP00000439633:S980F	ENSP00000325785:S980F	S	+	2	0	SPECC1L	23091555	1.000000	0.71417	0.958000	0.39756	0.914000	0.54420	6.534000	0.73833	2.608000	0.88229	0.591000	0.81541	TCT		0.512	SPECC1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319986.2	NM_015330		10	85	0	0	0	1	0	10	85					T	24761555	C	T	24761555	3	4	411	1	0	0	0	0	1	0	0	0	4209	913	32	3	2981	3	CYTSA	22	24761555	Missense_Mutation	SNP	C	TCGA-VP-A876-01A-11D-A34U-08		24761555	26543011	30	19959											
LARGE	9215	broad.mit.edu	37	chr22	34046652	34046652	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgacagagacacgggctttcCatctggggagcgaaacacca	12	6	12	11	2	1	2	0	1	1	1	2	5	2	3	2	3	2	1	2	3	1	1			TCGA-VP-A876-01A-11D-A34U-08	TCGA-VP-A876-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4de8976-c5ea-45ef-b7c7-38d5fd10cd0b	d15683ba-3e40-4447-bca8-760f87c6c438	g.chr22:34046652C>T	ENST00000354992.2	-	4	680	c.109G>A	c.(109-111)Gga>Aga	p.G37R	LARGE_ENST00000397394.2_Missense_Mutation_p.G37R|LARGE_ENST00000437602.2_Missense_Mutation_p.G37R|LARGE_ENST00000337431.2_Missense_Mutation_p.G37R|LARGE_ENST00000402320.1_Missense_Mutation_p.G37R	NM_004737.4	NP_004728.1	O95461	LARGE_HUMAN	like-glycosyltransferase	37					glycoprotein biosynthetic process (GO:0009101)|glycosphingolipid biosynthetic process (GO:0006688)|muscle cell cellular homeostasis (GO:0046716)|N-acetylglucosamine metabolic process (GO:0006044)|protein glycosylation (GO:0006486)	integral component of Golgi membrane (GO:0030173)	acetylglucosaminyltransferase activity (GO:0008375)|transferase activity, transferring glycosyl groups (GO:0016757)			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Lung NSC(1;0.219)				ACGGGCTTTCCATCTGGGGAG	0.617																																					Colon(70;397 1175 4573 19089 45288)	ENST00000354992.2																			0				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						c.(109-111)Gga>Aga		like-glycosyltransferase							24	25	24					22																	34046652		2179	4264	6443	SO:0001583	missense	9215				glycosphingolipid biosynthetic process|muscle cell homeostasis|N-acetylglucosamine metabolic process|protein glycosylation	integral to Golgi membrane	acetylglucosaminyltransferase activity	g.chr22:34046652C>T	AJ007583	CCDS13912.1	22q12.3	2013-02-22			ENSG00000133424	ENSG00000133424		"Glycosyltransferase family 8 domain containing"	6511	protein-coding gene	gene with protein product		603590				9892679, 10591208, 12966029	Standard	NM_004737		Approved	KIAA0609	uc003ane.4	O95461	OTTHUMG00000150914	ENST00000354992.2:c.109G>A	22.37:g.34046652C>T	ENSP00000347088:p.Gly37Arg					LARGE_ENST00000402320.1_Missense_Mutation_p.G37R|LARGE_ENST00000397394.2_Missense_Mutation_p.G37R|LARGE_ENST00000437602.2_Missense_Mutation_p.G37R|LARGE_ENST00000337431.2_Missense_Mutation_p.G37R|LARGE_ENST00000462606.1_5'UTR	p.G37R	NM_004737.4	NP_004728.1	O95461	LARGE_HUMAN			4	680	-		Lung NSC(1;0.219)	37					B0QXZ7|O60348|Q17R80|Q9UGD1|Q9UGE7|Q9UGG3|Q9UGZ8|Q9UH22	Missense_Mutation	SNP	ENST00000354992.2	37	c.109G>A	CCDS13912.1	.	.	.	.	.	.	.	.	.	.	C	27.7	4.854107	0.91355	.	.	ENSG00000133424	ENST00000354992;ENST00000337431;ENST00000397394;ENST00000402320;ENST00000437602;ENST00000430220;ENST00000413114;ENST00000434071;ENST00000432776;ENST00000423375	T;T;T;T;T;T;T;T	0.53640	1.1;1.09;1.1;1.09;0.61;1.36;1.36;1.39	5.84	5.84	0.93424	.	0.125901	0.53938	D	0.000048	T	0.56232	0.1971	N	0.19112	0.55	0.80722	D	1	D;D;P	0.59767	0.977;0.986;0.79	P;D;P	0.65874	0.871;0.939;0.459	T	0.59397	-0.7462	10	0.62326	D	0.03	0.8925	20.1533	0.98095	0.0:1.0:0.0:0.0	.	37;37;37	B7Z2I9;O95461-2;O95461	.;.;LARGE_HUMAN	R	37	ENSP00000347088:G37R;ENSP00000336636:G37R;ENSP00000380549:G37R;ENSP00000385223:G37R;ENSP00000388544:G37R;ENSP00000396277:G37R;ENSP00000415546:G37R;ENSP00000389605:G37R	ENSP00000336636:G37R	G	-	1	0	LARGE	32376652	1.000000	0.71417	1.000000	0.80357	0.860000	0.49131	5.277000	0.65586	2.758000	0.94735	0.655000	0.94253	GGA		0.617	LARGE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320515.2	NM_133642		5	28	0	0	0	1	0	5	28					T	34046652	C	T	34046652	3	4	411	1	0	0	0	0	1	0	0	0	8627	603	21	3	2213	3	LARGE	22	34046652	Missense_Mutation	SNP	C	TCGA-VP-A876-01A-11D-A34U-08	9285097	34046652	17257914	31	19960											
ARSH	347527	broad.mit.edu	37	chrX	2936617	2936617	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctttttttccttcctgcaCgtacatactccactcatctc	6	17	2	16	1	3	0	1	0	2	0	7	0	6	0	3	0	3	2	3	0	2	6			TCGA-VP-A876-01A-11D-A34U-08	TCGA-VP-A876-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4de8976-c5ea-45ef-b7c7-38d5fd10cd0b	d15683ba-3e40-4447-bca8-760f87c6c438	g.chrX:2936617C>T	ENST00000381130.2	+	5	807	c.807C>T	c.(805-807)caC>caT	p.H269H		NM_001011719.1	NP_001011719.1	Q5FYA8	ARSH_HUMAN	arylsulfatase family, member H	269					cellular protein metabolic process (GO:0044267)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum lumen (GO:0005788)|integral component of membrane (GO:0016021)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)			breast(3)|endometrium(8)|kidney(2)|large_intestine(6)|lung(13)|skin(1)|stomach(1)	34		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)				CCTTCCTGCACGTACATACTC	0.398																																						ENST00000381130.2																			0				breast(3)|endometrium(8)|kidney(2)|large_intestine(6)|lung(13)|skin(1)|stomach(1)	34						c.(805-807)caC>caT		arylsulfatase family, member H							124	114	117					X																	2936617		2203	4300	6503	SO:0001819	synonymous_variant	347527					integral to membrane	arylsulfatase activity|metal ion binding	g.chrX:2936617C>T	AY875940	CCDS35198.1	Xp22.33	2013-02-14	2006-03-07		ENSG00000205667	ENSG00000205667		"Arylsulfatase family"	32488	protein-coding gene	gene with protein product		300586	"arylsulfatase H"			16174644	Standard	NM_001011719		Approved		uc011mhj.2	Q5FYA8	OTTHUMG00000159612	ENST00000381130.2:c.807C>T	X.37:g.2936617C>T							p.H269H	NM_001011719.1	NP_001011719.1	Q5FYA8	ARSH_HUMAN			5	807	+		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)	269						Silent	SNP	ENST00000381130.2	37	c.807C>T	CCDS35198.1																																																																																				0.398	ARSH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356489.1	NM_001011719		21	20	0	0	0	1	0	21	20					T	2936617	C	T	2936617	2	4	411	1	0	0	0	0	0	0	0	1	993	535	19	1		1	ARSH	23	2936617	Silent	SNP	C	TCGA-VP-A876-01A-11D-A34U-08		2936617	152333943	32	19961											
FIGF	2277	broad.mit.edu	37	chrX	15373392	15373392	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	caggcactaattcaggtactGatgtcaaaggcactgatatc	13	10	9	9	0	2	2	2	2	0	0	3	2	2	2	0	3	1	3	0	3	4	4	rs143510014		TCGA-VP-A876-01A-11D-A34U-08	TCGA-VP-A876-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4de8976-c5ea-45ef-b7c7-38d5fd10cd0b	d15683ba-3e40-4447-bca8-760f87c6c438	g.chrX:15373392G>A	ENST00000297904.3	-	4	950	c.521C>T	c.(520-522)tCa>tTa	p.S174L		NM_004469.4	NP_004460.1	O43915	VEGFD_HUMAN	c-fos induced growth factor (vascular endothelial growth factor D)	174					angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|induction of positive chemotaxis (GO:0050930)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive chemotaxis (GO:0050918)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of mast cell chemotaxis (GO:0060754)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|platelet alpha granule lumen (GO:0031093)	chemoattractant activity (GO:0042056)|platelet-derived growth factor receptor binding (GO:0005161)|vascular endothelial growth factor receptor binding (GO:0005172)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	17	Hepatocellular(33;0.183)					TTCAGGTACTGATGTCAAAGG	0.368																																						ENST00000297904.3																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	17						c.(520-522)tCa>tTa		c-fos induced growth factor (vascular endothelial growth factor D)							87	85	85					X																	15373392		2203	4300	6503	SO:0001583	missense	2277				angiogenesis|cell differentiation|induction of positive chemotaxis|platelet activation|platelet degranulation|positive regulation of cell division|positive regulation of cell proliferation|positive regulation of mast cell chemotaxis|vascular endothelial growth factor receptor signaling pathway	extracellular space|membrane|platelet alpha granule lumen	chemoattractant activity|growth factor activity|platelet-derived growth factor receptor binding	g.chrX:15373392G>A	AJ000185	CCDS14166.1	Xp22.31	2008-02-05			ENSG00000165197	ENSG00000165197			3708	protein-coding gene	gene with protein product		300091		VEGFD		9479493	Standard	NM_004469		Approved	VEGF-D	uc004cwt.2	O43915	OTTHUMG00000021175	ENST00000297904.3:c.521C>T	X.37:g.15373392G>A	ENSP00000297904:p.Ser174Leu						p.S174L	NM_004469.4	NP_004460.1	O43915	VEGFD_HUMAN			4	950	-	Hepatocellular(33;0.183)		174					B2R7Z3	Missense_Mutation	SNP	ENST00000297904.3	37	c.521C>T	CCDS14166.1	.	.	.	.	.	.	.	.	.	.	G	11.88	1.769382	0.31320	.	.	ENSG00000165197	ENST00000297904	.	.	.	5.25	5.25	0.73442	Platelet-derived growth factor (PDGF) (3);	0.602954	0.16887	N	0.195453	T	0.42787	0.1218	L	0.50333	1.59	0.39859	D	0.973341	P	0.41929	0.765	B	0.34779	0.189	T	0.50972	-0.8764	9	0.62326	D	0.03	-32.5797	8.3397	0.32237	0.0:0.1767:0.6618:0.1615	.	174	O43915	VEGFD_HUMAN	L	174	.	ENSP00000297904:S174L	S	-	2	0	FIGF	15283313	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.572000	0.45999	2.162000	0.67917	0.600000	0.82982	TCA		0.368	FIGF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055859.1	NM_004469		5	46	0	0	0	1	0	5	46					A	15373392	G	A	15373392	3	1	411	1	0	0	0	0	1	0	0	0	5889	1294	45	3	559	3	FIGF	23	15373392	Missense_Mutation	SNP	G	TCGA-VP-A876-01A-11D-A34U-08	12436775	15373392	139897168	33	19962											
ZNF182	7569	broad.mit.edu	37	chrX	47835730	47835730	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgagttctttgatgtacagTgaatgttgacttttctcgga	9	17	10	5	1	2	4	0	4	2	0	3	5	2	5	0	1	1	3	0	1	2	6			TCGA-VP-A876-01A-11D-A34U-08	TCGA-VP-A876-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4de8976-c5ea-45ef-b7c7-38d5fd10cd0b	d15683ba-3e40-4447-bca8-760f87c6c438	g.chrX:47835730T>C	ENST00000396965.1	-	7	2106	c.1756A>G	c.(1756-1758)Act>Gct	p.T586A	ZNF182_ENST00000376943.3_Missense_Mutation_p.T567A|ZNF182_ENST00000305127.6_Missense_Mutation_p.T586A	NM_001178099.1	NP_001171570.1	P17025	ZN182_HUMAN	zinc finger protein 182	586					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(5)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|prostate(1)	22						TGATGTACAGTGAATGTTGAC	0.428																																						ENST00000396965.1																			0				endometrium(5)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|prostate(1)	22						c.(1756-1758)Act>Gct		zinc finger protein 182							123	103	109					X																	47835730		2203	4300	6503	SO:0001583	missense	7569				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chrX:47835730T>C	AK122874, R98366	CCDS35235.1, CCDS35236.1	Xp11.23	2013-01-08	2006-05-10	2006-05-10	ENSG00000147118	ENSG00000147118		"Zinc fingers, C2H2-type", "-"	13001	protein-coding gene	gene with protein product		314993	"zinc finger protein 182 (HHZ150)", "zinc finger protein 21 (KOX 14)"	ZNF21		8088786, 2014798, 8914609	Standard	NM_001178099		Approved	KOX14, HHZ150, Zfp182	uc004dit.3	P17025	OTTHUMG00000021460	ENST00000396965.1:c.1756A>G	X.37:g.47835730T>C	ENSP00000380165:p.Thr586Ala					ZNF182_ENST00000305127.6_Missense_Mutation_p.T586A|ZNF182_ENST00000376943.3_Missense_Mutation_p.T567A	p.T586A	NM_001178099.1	NP_001171570.1	P17025	ZN182_HUMAN			7	2106	-			586					A2IDD7|Q3KP67|Q96QH7	Missense_Mutation	SNP	ENST00000396965.1	37	c.1756A>G	CCDS35236.1	.	.	.	.	.	.	.	.	.	.	T	12.02	1.813516	0.32053	.	.	ENSG00000147118	ENST00000376943;ENST00000396965;ENST00000305127	T;T;T	0.06849	3.25;3.25;3.25	4.86	4.86	0.63082	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.12008	0.0292	N	0.20881	0.62	0.27723	N	0.945045	B;P;P	0.41947	0.444;0.766;0.625	B;P;B	0.53988	0.374;0.739;0.192	T	0.20075	-1.0286	9	0.21540	T	0.41	.	11.4917	0.50385	0.0:0.0:0.0:1.0	.	566;567;586	B4DRM0;Q96QH7;P17025	.;.;ZN182_HUMAN	A	567;586;586	ENSP00000366142:T567A;ENSP00000380165:T586A;ENSP00000306351:T586A	ENSP00000306351:T586A	T	-	1	0	ZNF182	47720674	0.001000	0.12720	1.000000	0.80357	0.793000	0.44817	0.926000	0.28804	1.916000	0.55485	0.441000	0.28932	ACT		0.428	ZNF182-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000277055.1	NM_006962		13	54	0	0	0	1	0	13	54					C	47835730	T	C	47835730	3	2	411	1	0	0	0	0	1	0	0	0	17747	1696	59	4	167	4	ZNF182	23	47835730	Missense_Mutation	SNP	T	TCGA-VP-A876-01A-11D-A34U-08	32462338	47835730	107434830	34	19963											
PLCH2	9651	broad.mit.edu	37	chr1	2411397	2411397	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acgaggacagcctggctcgcCgccagcgcaccagggaccaa	10	2	13	16	4	0	0	0	0	0	0	1	3	0	2	5	3	2	2	5	3	1	0			TCGA-VP-A878-01A-31D-A34U-08	TCGA-VP-A878-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50c8781c-f2c7-4eb3-beb6-322e4c08e79b	62240b66-a483-4a6a-a55c-06b9734d523a	g.chr1:2411397C>T	ENST00000419816.2	+	3	770	c.496C>T	c.(496-498)Cgc>Tgc	p.R166C	PLCH2_ENST00000378486.3_Missense_Mutation_p.R166C|PLCH2_ENST00000288766.5_Intron|PLCH2_ENST00000449969.1_Missense_Mutation_p.R139C|PLCH2_ENST00000378488.3_Missense_Mutation_p.R166C			O75038	PLCH2_HUMAN	phospholipase C, eta 2	166					inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|phosphatidylinositol metabolic process (GO:0046488)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871)			central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(3)|skin(1)	20	all_cancers(77;0.000161)|all_epithelial(69;5.98e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;7.32e-16)|all_lung(118;1.15e-06)|Lung NSC(185;6.26e-05)|Renal(390;0.00571)|Breast(487;0.00832)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;1.44e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.78e-23)|GBM - Glioblastoma multiforme(42;2.8e-08)|Colorectal(212;4.19e-05)|COAD - Colon adenocarcinoma(227;0.000195)|Kidney(185;0.00034)|BRCA - Breast invasive adenocarcinoma(365;0.00443)|KIRC - Kidney renal clear cell carcinoma(229;0.00548)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.2)		CCTGGCTCGCCGCCAGCGCAC	0.687																																						ENST00000449969.1																			0				central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(3)|skin(1)	20						c.(415-417)Cgc>Tgc		phospholipase C, eta 2							24	28	27					1																	2411397		2100	4162	6262	SO:0001583	missense	9651				intracellular signal transduction|lipid catabolic process	cytoplasm|plasma membrane	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr1:2411397C>T	AB007919	CCDS59959.1	1p36.32	2013-01-10	2006-03-16	2006-03-16	ENSG00000149527	ENSG00000149527	3.1.4.11	"EF-hand domain containing"	29037	protein-coding gene	gene with protein product		612836	"phospholipase C-like 4"	PLCL4		15899900	Standard	XM_006711054		Approved	KIAA0450, PLCeta2, RP3-395M20.1, PLC-eta2	uc001aji.1	O75038	OTTHUMG00000000719	ENST00000419816.2:c.496C>T	1.37:g.2411397C>T	ENSP00000389803:p.Arg166Cys					PLCH2_ENST00000378483.2_Intron|PLCH2_ENST00000378486.3_Missense_Mutation_p.R166C|PLCH2_ENST00000378488.3_Missense_Mutation_p.R166C|PLCH2_ENST00000288766.5_Intron|PLCH2_ENST00000419816.2_Missense_Mutation_p.R166C	p.R139C			O75038	PLCH2_HUMAN		Epithelial(90;1.44e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.78e-23)|GBM - Glioblastoma multiforme(42;2.8e-08)|Colorectal(212;4.19e-05)|COAD - Colon adenocarcinoma(227;0.000195)|Kidney(185;0.00034)|BRCA - Breast invasive adenocarcinoma(365;0.00443)|KIRC - Kidney renal clear cell carcinoma(229;0.00548)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.2)	3	576	+	all_cancers(77;0.000161)|all_epithelial(69;5.98e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;7.32e-16)|all_lung(118;1.15e-06)|Lung NSC(185;6.26e-05)|Renal(390;0.00571)|Breast(487;0.00832)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)	166			Necessary for plasma membrane localization (By similarity).|PH.		A2VCM3|B9DI80|Q3LUA8|Q86XJ2|Q86XU1|Q86YU7|Q8TEH5|Q8WUS6	Missense_Mutation	SNP	ENST00000419816.2	37	c.415C>T		.	.	.	.	.	.	.	.	.	.	C	16.30	3.085341	0.55861	.	.	ENSG00000149527	ENST00000449969;ENST00000378486;ENST00000378488;ENST00000343889	T;T;T	0.25912	1.85;1.83;1.77	4.92	4.92	0.64577	.	.	.	.	.	T	0.50326	0.1609	M	0.66939	2.045	0.80722	D	1	D	0.89917	1.0	D	0.74023	0.982	T	0.53556	-0.8422	9	0.87932	D	0	.	17.4485	0.87585	0.0:1.0:0.0:0.0	.	166	O75038	PLCH2_HUMAN	C	139;166;166;13	ENSP00000397289:R139C;ENSP00000367747:R166C;ENSP00000367749:R166C	ENSP00000341313:R13C	R	+	1	0	PLCH2	2401257	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	4.601000	0.61090	2.459000	0.83118	0.491000	0.48974	CGC		0.687	PLCH2-009	KNOWN	non_canonical_conserved|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000467514.1	NM_014638		9	48	0	0	0	1	0	9	48					T	2411397	C	T	2411397	3	4	412	1	0	0	0	0	1	0	0	0	12038	652	23	2	506	2	PLCH2	1	2411397	Missense_Mutation	SNP	C	TCGA-VP-A878-01A-31D-A34U-08		2411397	246839224	1	19964											
NPHP4	261734	broad.mit.edu	37	chr1	5940290	5940290	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacctctcactttctgttcaCacgggtgacctacatgaaaa	12	11	6	12	1	3	2	2	2	2	0	4	2	3	2	2	1	2	1	2	1	4	3			TCGA-VP-A878-01A-31D-A34U-08	TCGA-VP-A878-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50c8781c-f2c7-4eb3-beb6-322e4c08e79b	62240b66-a483-4a6a-a55c-06b9734d523a	g.chr1:5940290C>T	ENST00000378156.4	-	19	2760	c.2495G>A	c.(2494-2496)tGt>tAt	p.C832Y	NPHP4_ENST00000478423.2_5'UTR	NM_015102.3	NP_055917.1	O75161	NPHP4_HUMAN	nephronophthisis 4	832					actin cytoskeleton organization (GO:0030036)|hippo signaling (GO:0035329)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|retina development in camera-type eye (GO:0060041)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|visual behavior (GO:0007632)	cell-cell junction (GO:0005911)|centrosome (GO:0005813)|cytosol (GO:0005829)|membrane (GO:0016020)|nonmotile primary cilium (GO:0031513)|tight junction (GO:0005923)	structural molecule activity (GO:0005198)			NS(1)|breast(2)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(4)	47	Ovarian(185;0.0634)	all_cancers(23;7.53e-41)|all_epithelial(116;3.96e-23)|all_lung(118;5.12e-09)|all_hematologic(16;5.45e-07)|Lung NSC(185;5.49e-07)|all_neural(13;3.21e-06)|Acute lymphoblastic leukemia(12;3.44e-05)|Breast(487;0.000601)|Renal(390;0.0007)|Colorectal(325;0.00113)|Hepatocellular(190;0.00213)|Glioma(11;0.00223)|Myeloproliferative disorder(586;0.0256)|Ovarian(437;0.04)|Lung SC(97;0.128)|Medulloblastoma(700;0.213)		Epithelial(90;1.69e-36)|GBM - Glioblastoma multiforme(13;5.07e-29)|OV - Ovarian serous cystadenocarcinoma(86;1.05e-19)|Colorectal(212;4.54e-07)|COAD - Colon adenocarcinoma(227;3.14e-05)|Kidney(185;0.00012)|BRCA - Breast invasive adenocarcinoma(365;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00179)|STAD - Stomach adenocarcinoma(132;0.00472)|READ - Rectum adenocarcinoma(331;0.0649)		TTTCTGTTCACACGGGTGACC	0.507																																						ENST00000378156.4																			0				NS(1)|breast(2)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(4)	47						c.(2494-2496)tGt>tAt		nephronophthisis 4							88	91	90					1																	5940290		2028	4177	6205	SO:0001583	missense	261734				actin cytoskeleton organization|cell-cell adhesion|signal transduction|visual behavior	cell-cell junction|centrosome|cilium|microtubule basal body	protein binding|structural molecule activity	g.chr1:5940290C>T	AB014573	CCDS44052.1	1p36	2010-03-26			ENSG00000131697	ENSG00000131697			19104	protein-coding gene	gene with protein product	"nephroretinin", "nephrocystin-4", "POC10 centriolar protein homolog (Chlamydomonas)"	607215				11920287, 12205563	Standard	XR_244787		Approved	SLSN4, KIAA0673, POC10	uc001alq.2	O75161	OTTHUMG00000000701	ENST00000378156.4:c.2495G>A	1.37:g.5940290C>T	ENSP00000367398:p.Cys832Tyr					NPHP4_ENST00000478423.2_5'UTR	p.C832Y	NM_015102.3	NP_055917.1	O75161	NPHP4_HUMAN		Epithelial(90;1.69e-36)|GBM - Glioblastoma multiforme(13;5.07e-29)|OV - Ovarian serous cystadenocarcinoma(86;1.05e-19)|Colorectal(212;4.54e-07)|COAD - Colon adenocarcinoma(227;3.14e-05)|Kidney(185;0.00012)|BRCA - Breast invasive adenocarcinoma(365;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00179)|STAD - Stomach adenocarcinoma(132;0.00472)|READ - Rectum adenocarcinoma(331;0.0649)	19	2760	-	Ovarian(185;0.0634)	all_cancers(23;7.53e-41)|all_epithelial(116;3.96e-23)|all_lung(118;5.12e-09)|all_hematologic(16;5.45e-07)|Lung NSC(185;5.49e-07)|all_neural(13;3.21e-06)|Acute lymphoblastic leukemia(12;3.44e-05)|Breast(487;0.000601)|Renal(390;0.0007)|Colorectal(325;0.00113)|Hepatocellular(190;0.00213)|Glioma(11;0.00223)|Myeloproliferative disorder(586;0.0256)|Ovarian(437;0.04)|Lung SC(97;0.128)|Medulloblastoma(700;0.213)	832					Q8IWC0	Missense_Mutation	SNP	ENST00000378156.4	37	c.2495G>A	CCDS44052.1	.	.	.	.	.	.	.	.	.	.	C	15.13	2.742869	0.49151	.	.	ENSG00000131697	ENST00000378156	D	0.86956	-2.19	5.21	2.05	0.26809	.	0.679013	0.14477	N	0.317182	T	0.81182	0.4769	L	0.51422	1.61	0.09310	N	1	P	0.51791	0.948	B	0.43990	0.438	T	0.68515	-0.5388	10	0.17832	T	0.49	.	6.3812	0.21536	0.0:0.6428:0.1664:0.1908	.	832	O75161	NPHP4_HUMAN	Y	832	ENSP00000367398:C832Y	ENSP00000367398:C832Y	C	-	2	0	NPHP4	5862877	1.000000	0.71417	0.008000	0.14137	0.084000	0.17831	2.523000	0.45580	0.578000	0.29487	0.561000	0.74099	TGT		0.507	NPHP4-001	KNOWN	non_canonical_polymorphism|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001715.2			5	23	0	0	0	1	0	5	23					T	5940290	C	T	5940290	3	4	412	1	0	0	0	0	1	0	0	0	10581	478	17	3	1833	3	NPHP4	1	5940290	Missense_Mutation	SNP	C	TCGA-VP-A878-01A-31D-A34U-08	3528893	5940290	243310331	2	19965											
CDC20	991	broad.mit.edu	37	chr1	43828701	43828701	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcagcagcagatgagaccctGaggctatggcgctgttttga	9	9	14	9	1	0	4	0	3	0	2	0	5	0	4	1	2	2	6	1	2	1	3			TCGA-VP-A878-01A-31D-A34U-08	TCGA-VP-A878-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50c8781c-f2c7-4eb3-beb6-322e4c08e79b	62240b66-a483-4a6a-a55c-06b9734d523a	g.chr1:43828701G>A	ENST00000372462.1	+	10	1604	c.1401G>A	c.(1399-1401)ctG>ctA	p.L467L	CDC20_ENST00000310955.6_Silent_p.L467L|ELOVL1_ENST00000470769.1_5'Flank			Q12834	CDC20_HUMAN	cell division cycle 20	467					activation of anaphase-promoting complex activity (GO:0051488)|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell cycle (GO:0007049)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of cell proliferation (GO:0008284)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic plasticity (GO:0031915)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein ubiquitination (GO:0016567)|regulation of dendrite development (GO:0050773)|regulation of meiosis (GO:0040020)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|protein complex (GO:0043234)|spindle (GO:0005819)	enzyme binding (GO:0019899)|protein C-terminus binding (GO:0008022)			endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	15	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				ATGAGACCCTGAGGCTATGGC	0.607																																					Esophageal Squamous(137;1154 1759 10362 10401 46925)	ENST00000372462.1																			0				endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	15						c.(1399-1401)ctG>ctA		cell division cycle 20							87	89	88					1																	43828701		2203	4300	6503	SO:0001819	synonymous_variant	991				activation of anaphase-promoting complex activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of synapse maturation|positive regulation of synaptic plasticity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle	cytosol|nucleoplasm|spindle	enzyme binding|protein C-terminus binding	g.chr1:43828701G>A	U05340	CCDS484.1	1p34.1	2013-01-17	2013-01-17		ENSG00000117399	ENSG00000117399		"WD repeat domain containing"	1723	protein-coding gene	gene with protein product		603618	"CDC20 (cell division cycle 20, S. cerevisiae, homolog)", "CDC20 cell division cycle 20 homolog (S. cerevisiae)", "cell division cycle 20 homolog (S. cerevisiae)"			7513050, 9353311	Standard	NM_001255		Approved	p55CDC, CDC20A	uc001cix.3	Q12834	OTTHUMG00000007420	ENST00000372462.1:c.1401G>A	1.37:g.43828701G>A						CDC20_ENST00000310955.6_Silent_p.L467L	p.L467L			Q12834	CDC20_HUMAN			10	1604	+	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)	467					B2R6Z6|D3DPJ1|Q5JUY4|Q9BW56|Q9UQI9	Silent	SNP	ENST00000372462.1	37	c.1401G>A	CCDS484.1																																																																																				0.607	CDC20-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019488.1	NM_001255		22	58	0	0	0	1	0	22	58					A	43828701	G	A	43828701	2	1	412	1	0	0	0	0	0	0	0	1	3059	1277	45	3		3	CDC20	1	43828701	Silent	SNP	G	TCGA-VP-A878-01A-31D-A34U-08	37888411	43828701	205421920	3	19966											
DPYD	1806	broad.mit.edu	37	chr1	97700433	97700433	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggacggaagcaccactatggAgaaactgaagaccactttca	15	6	10	10	1	1	3	1	1	0	2	1	6	1	5	2	3	2	1	2	3	4	2			TCGA-VP-A878-01A-31D-A34U-08	TCGA-VP-A878-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50c8781c-f2c7-4eb3-beb6-322e4c08e79b	62240b66-a483-4a6a-a55c-06b9734d523a	g.chr1:97700433A>G	ENST00000370192.3	-	19	2517	c.2417T>C	c.(2416-2418)cTc>cCc	p.L806P	DPYD-AS1_ENST00000422980.1_RNA	NM_000110.3	NP_000101	Q12882	DPYD_HUMAN	dihydropyrimidine dehydrogenase	806					beta-alanine biosynthetic process (GO:0019483)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase catabolic process (GO:0006145)|pyrimidine nucleobase catabolic process (GO:0006208)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|small molecule metabolic process (GO:0044281)|thymidine catabolic process (GO:0006214)|thymine catabolic process (GO:0006210)|UMP biosynthetic process (GO:0006222)|uracil catabolic process (GO:0006212)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	4 iron, 4 sulfur cluster binding (GO:0051539)|dihydroorotate dehydrogenase activity (GO:0004152)|dihydropyrimidine dehydrogenase (NADP+) activity (GO:0017113)|flavin adenine dinucleotide binding (GO:0050660)|metal ion binding (GO:0046872)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	83		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	Capecitabine(DB01101)|Flavin adenine dinucleotide(DB03147)|Fluorouracil(DB00544)	ACCACTATGGAGAAACTGAAG	0.433																																						ENST00000370192.3																			0				NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	83						c.(2416-2418)cTc>cCc		dihydropyrimidine dehydrogenase	Capecitabine(DB01101)|Enfuvirtide(DB00109)						113	90	98					1																	97700433		2203	4300	6503	SO:0001583	missense	1806				'de novo' pyrimidine base biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|UMP biosynthetic process|uracil catabolic process	cytosol	4 iron, 4 sulfur cluster binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|NADP binding|protein homodimerization activity	g.chr1:97700433A>G	U20938	CCDS30777.1, CCDS53346.1	1p22	2014-09-17			ENSG00000188641	ENSG00000188641	1.3.1.2		3012	protein-coding gene	gene with protein product		612779				7713523	Standard	NM_000110		Approved	DPD	uc001drv.3	Q12882	OTTHUMG00000039683	ENST00000370192.3:c.2417T>C	1.37:g.97700433A>G	ENSP00000359211:p.Leu806Pro					DPYD-AS1_ENST00000422980.1_RNA	p.L806P	NM_000110.3	NP_000101.2	Q12882	DPYD_HUMAN		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	19	2517	-		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)	806					A2RRQ2|A2RRQ3|A8K5A2|A8MWG9|B1AN21|E9PFN1|Q16694|Q16761|Q32NB0|Q96HL6|Q96TH1	Missense_Mutation	SNP	ENST00000370192.3	37	c.2417T>C	CCDS30777.1	.	.	.	.	.	.	.	.	.	.	A	19.94	3.919364	0.73098	.	.	ENSG00000188641	ENST00000370192	T	0.80123	-1.34	5.75	5.75	0.90469	Aldolase-type TIM barrel (1);	0.000000	0.85682	D	0.000000	D	0.92221	0.7533	H	0.96333	3.805	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.94593	0.7789	10	0.87932	D	0	-13.4877	16.0487	0.80740	1.0:0.0:0.0:0.0	.	806	Q12882	DPYD_HUMAN	P	806	ENSP00000359211:L806P	ENSP00000359211:L806P	L	-	2	0	DPYD	97473021	1.000000	0.71417	1.000000	0.80357	0.555000	0.35460	8.962000	0.93254	2.196000	0.70406	0.460000	0.39030	CTC		0.433	DPYD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095698.3	NM_000110		6	15	0	0	0	1	0	6	15					G	97700433	A	G	97700433	3	3	412	1	0	0	0	0	1	0	0	0	4745	304	11	4	680	4	DPYD	1	97700433	Missense_Mutation	SNP	A	TCGA-VP-A878-01A-31D-A34U-08	53871732	97700433	151550188	4	19967											
SPTA1	6708	broad.mit.edu	37	chr1	158606472	158606472	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caccagctccccctctaggcGtttgtgcttcttcagcaagt	6	12	8	15	1	3	0	1	0	2	0	4	0	4	0	3	1	3	4	3	1	2	4			TCGA-VP-A878-01A-31D-A34U-08	TCGA-VP-A878-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50c8781c-f2c7-4eb3-beb6-322e4c08e79b	62240b66-a483-4a6a-a55c-06b9734d523a	g.chr1:158606472G>A	ENST00000368147.4	-	37	5449	c.5269C>T	c.(5269-5271)Cgc>Tgc	p.R1757C		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	1757					actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)	p.R1757C(2)		NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					CCCTCTAGGCGTTTGTGCTTC	0.473																																						ENST00000368148.3																			2	Substitution - Missense(2)	p.R1757C(2)	large_intestine(1)|breast(1)	NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307						c.(5269-5271)Cgc>Tgc		spectrin, alpha, erythrocytic 1 (elliptocytosis 2)							119	116	117					1																	158606472		1866	4097	5963	SO:0001583	missense	6708				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	g.chr1:158606472G>A	M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"EF-hand domain containing"	11272	protein-coding gene	gene with protein product	"elliptocytosis 2"	182860	"spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.5269C>T	1.37:g.158606472G>A	ENSP00000357129:p.Arg1757Cys					SPTA1_ENST00000368147.3_Missense_Mutation_p.R1757C	p.R1757C	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN			37	5449	-	all_hematologic(112;0.0378)		1757					Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Missense_Mutation	SNP	ENST00000368147.4	37	c.5269C>T	CCDS41423.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.146494	0.77888	.	.	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.53423	0.62;0.62	5.26	5.26	0.73747	.	.	.	.	.	T	0.66954	0.2842	M	0.84433	2.695	0.58432	D	0.999999	D	0.89917	1.0	D	0.79784	0.993	T	0.71163	-0.4673	9	0.66056	D	0.02	.	15.7406	0.77891	0.0:0.0:1.0:0.0	.	1757	P02549	SPTA1_HUMAN	C	1757	ENSP00000357130:R1757C;ENSP00000357129:R1757C	ENSP00000357129:R1757C	R	-	1	0	SPTA1	156873096	1.000000	0.71417	0.531000	0.27976	0.951000	0.60555	6.107000	0.71517	2.744000	0.94065	0.650000	0.86243	CGC		0.473	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126		21	83	0	0	0	1	0	21	83					A	158606472	G	A	158606472	3	1	412	1	0	0	0	0	1	0	0	0	15115	1145	40	1	2054	1	SPTA1	1	158606472	Missense_Mutation	SNP	G	TCGA-VP-A878-01A-31D-A34U-08	60906039	158606472	90644149	5	19968											
HMCN1	83872	broad.mit.edu	37	chr1	186097410	186097410	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttaacatggaccttcaataaCaatattattccaggttggtc	13	14	6	8	0	1	0	1	0	0	0	3	1	2	1	2	3	2	1	2	3	6	7			TCGA-VP-A878-01A-31D-A34U-08	TCGA-VP-A878-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50c8781c-f2c7-4eb3-beb6-322e4c08e79b	62240b66-a483-4a6a-a55c-06b9734d523a	g.chr1:186097410C>A	ENST00000271588.4	+	83	13120	c.12891C>A	c.(12889-12891)aaC>aaA	p.N4297K	HMCN1_ENST00000367492.2_Missense_Mutation_p.N4297K	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	4297	Ig-like C2-type 42.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						CCTTCAATAACAATATTATTC	0.368																																						ENST00000271588.4																			0				NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						c.(12889-12891)aaC>aaA		hemicentin 1							63	62	63					1																	186097410		2203	4299	6502	SO:0001583	missense	83872				response to stimulus|visual perception	basement membrane	calcium ion binding	g.chr1:186097410C>A	AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"Fibulins", "Immunoglobulin superfamily / I-set domain containing"	19194	protein-coding gene	gene with protein product	"fibulin 6"	608548	"age-related macular degeneration 1 (senile macular degeneration)"	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.12891C>A	1.37:g.186097410C>A	ENSP00000271588:p.Asn4297Lys					HMCN1_ENST00000367492.2_Missense_Mutation_p.N4297K	p.N4297K	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN			83	13120	+			4297			Ig-like C2-type 42.		A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Missense_Mutation	SNP	ENST00000271588.4	37	c.12891C>A	CCDS30956.1	.	.	.	.	.	.	.	.	.	.	C	18.11	3.550176	0.65311	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	T;T	0.36520	1.25;1.25	5.36	2.44	0.29823	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.081906	0.85682	D	0.000000	T	0.40094	0.1103	N	0.24115	0.695	0.48087	D	0.999583	D	0.76494	0.999	D	0.83275	0.996	T	0.08066	-1.0740	10	0.30078	T	0.28	.	9.4465	0.38701	0.0:0.6572:0.0:0.3428	.	4297	Q96RW7	HMCN1_HUMAN	K	4297	ENSP00000271588:N4297K;ENSP00000356462:N4297K	ENSP00000271588:N4297K	N	+	3	2	HMCN1	184364033	1.000000	0.71417	0.997000	0.53966	0.938000	0.57974	1.561000	0.36342	0.644000	0.30656	0.585000	0.79938	AAC		0.368	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935		9	37	1	0	7.48243e-07	1	8.6958e-07	9	37					A	186097410	C	A	186097410	3	1	412	1	0	0	0	0	1	0	0	0	7220	477	17	5	13221	5	HMCN1	1	186097410	Missense_Mutation	SNP	C	TCGA-VP-A878-01A-31D-A34U-08	27490938	186097410	63153211	6	19969											
AGPS	8540	broad.mit.edu	37	chr2	178402827	178402827	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aagttacggaagcaatggctAaaggaaagtatctctgatgt	15	10	11	5	1	1	1	0	1	1	0	2	3	1	3	0	3	2	4	0	3	8	3			TCGA-VP-A878-01A-31D-A34U-08	TCGA-VP-A878-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50c8781c-f2c7-4eb3-beb6-322e4c08e79b	62240b66-a483-4a6a-a55c-06b9734d523a	g.chr2:178402827A>G	ENST00000264167.4	+	20	2027	c.1881A>G	c.(1879-1881)ctA>ctG	p.L627L	AGPS_ENST00000409888.1_Silent_p.L158L	NM_003659.3	NP_003650.1	O00116	ADAS_HUMAN	alkylglycerone phosphate synthase	627					cellular lipid metabolic process (GO:0044255)|ether lipid biosynthetic process (GO:0008611)|lipid biosynthetic process (GO:0008610)|small molecule metabolic process (GO:0044281)	intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	alkylglycerone-phosphate synthase activity (GO:0008609)|FAD binding (GO:0071949)|UDP-N-acetylmuramate dehydrogenase activity (GO:0008762)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)|skin(1)	32			OV - Ovarian serous cystadenocarcinoma(117;0.0018)|Epithelial(96;0.00919)|all cancers(119;0.0358)			AGCAATGGCTAAAGGAAAGTA	0.393																																						ENST00000264167.4																			0				breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)|skin(1)	32						c.(1879-1881)ctA>ctG		alkylglycerone phosphate synthase							130	127	128					2																	178402827		2203	4300	6503	SO:0001819	synonymous_variant	8540				ether lipid biosynthetic process	peroxisomal matrix|peroxisomal membrane|plasma membrane	alkylglycerone-phosphate synthase activity|flavin adenine dinucleotide binding|oxidoreductase activity	g.chr2:178402827A>G	Y09443	CCDS2275.1	2q	2008-02-05			ENSG00000018510	ENSG00000018510	2.5.1.26		327	protein-coding gene	gene with protein product		603051				9187299, 9553082	Standard	NM_003659		Approved	ADHAPS, ADAS, ALDHPSY, ADPS, ADAP-S	uc002ull.2	O00116	OTTHUMG00000132530	ENST00000264167.4:c.1881A>G	2.37:g.178402827A>G						AGPS_ENST00000409888.1_Silent_p.L158L	p.L627L	NM_003659.3	NP_003650.1	O00116	ADAS_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0018)|Epithelial(96;0.00919)|all cancers(119;0.0358)		20	2027	+			627					A5D8U9|Q2TU35	Silent	SNP	ENST00000264167.4	37	c.1881A>G	CCDS2275.1																																																																																				0.393	AGPS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255730.2			20	79	0	0	0	1	0	20	79					G	178402827	A	G	178402827	2	3	412	1	0	0	0	0	0	0	0	1	394	349	13	4		4	AGPS	2	178402827	Silent	SNP	A	TCGA-VP-A878-01A-31D-A34U-08		178402827	64796546	7	19970											
TTN	7273	broad.mit.edu	37	chr2	179629396	179629396	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaagaaatttgcacttgaaGccagtggaaagcagctgctc	13	9	11	8	0	0	3	0	2	0	1	1	4	0	4	1	1	5	4	1	1	4	2			TCGA-VP-A878-01A-31D-A34U-08	TCGA-VP-A878-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50c8781c-f2c7-4eb3-beb6-322e4c08e79b	62240b66-a483-4a6a-a55c-06b9734d523a	g.chr2:179629396G>A	ENST00000591111.1	-	42	10070	c.9846C>T	c.(9844-9846)ggC>ggT	p.G3282G	TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000342175.6_Silent_p.G3236G|TTN_ENST00000359218.5_Silent_p.G3236G|TTN_ENST00000460472.2_Silent_p.G3236G|TTN-AS1_ENST00000610005.1_RNA|TTN_ENST00000589042.1_Silent_p.G3282G|TTN_ENST00000360870.5_Silent_p.G3282G|TTN_ENST00000342992.6_Silent_p.G3282G|TTN-AS1_ENST00000585451.1_RNA			Q8WZ42	TITIN_HUMAN	titin	13609	Ig-like 19.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGCACTTGAAGCCAGTGGAAA	0.502																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(9844-9846)ggC>ggT		titin							119	118	118					2																	179629396		2203	4300	6503	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179629396G>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.9846C>T	2.37:g.179629396G>A						TTN_ENST00000359218.5_Silent_p.G3236G|TTN_ENST00000342175.6_Silent_p.G3236G|TTN_ENST00000342992.6_Silent_p.G3282G|TTN_ENST00000591111.1_Silent_p.G3282G|TTN_ENST00000360870.5_Silent_p.G3282G|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Silent_p.G3236G	p.G3282G	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		42	10070	-			3011			Ig-like 19.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	ENST00000591111.1	37	c.9846C>T																																																																																					0.502	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		27	124	0	0	0	1	0	27	124					A	179629396	G	A	179629396	2	1	412	1	0	0	0	0	0	0	0	1	16732	958	34	3		3	TTN	2	179629396	Silent	SNP	G	TCGA-VP-A878-01A-31D-A34U-08	1226569	179629396	63569977	8	19971											
PDE6D	5147	broad.mit.edu	37	chr2	232601992	232601992	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gggatcacaaagccaaactcGaagaaccattctgaaggaag	17	5	10	9	1	2	2	1	1	1	1	3	5	2	4	2	2	3	0	2	2	6	1	rs571686278		TCGA-VP-A878-01A-31D-A34U-08	TCGA-VP-A878-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50c8781c-f2c7-4eb3-beb6-322e4c08e79b	62240b66-a483-4a6a-a55c-06b9734d523a	g.chr2:232601992G>A	ENST00000287600.4	-	4	470	c.276C>T	c.(274-276)ttC>ttT	p.F92F	PDE6D_ENST00000409772.1_Intron	NM_002601.2	NP_002592.1	O43924	PDE6D_HUMAN	phosphodiesterase 6D, cGMP-specific, rod, delta	92					regulation of GTP catabolic process (GO:0033124)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|membrane (GO:0016020)	3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|GTPase inhibitor activity (GO:0005095)|Rab GTPase binding (GO:0017137)			endometrium(1)|large_intestine(1)|lung(2)|skin(1)	5		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.142)		Epithelial(121;2.19e-12)|BRCA - Breast invasive adenocarcinoma(100;0.00145)|LUSC - Lung squamous cell carcinoma(224;0.0125)|Lung(119;0.0154)		AGCCAAACTCGAAGAACCATT	0.512													G|||	1	0.000199681	0	0	5008	,	,		17804	0		0	False		,,,				2504	0.001					ENST00000287600.4																			0				endometrium(1)|large_intestine(1)|lung(2)|skin(1)	5						c.(274-276)ttC>ttT		phosphodiesterase 6D, cGMP-specific, rod, delta							83	75	78					2																	232601992		2203	4300	6503	SO:0001819	synonymous_variant	5147				regulation of GTP catabolic process|response to stimulus|visual perception		3',5'-cyclic-nucleotide phosphodiesterase activity|GTPase inhibitor activity|protein binding	g.chr2:232601992G>A	AF045999	CCDS33398.1	2q35-q36	2014-04-28			ENSG00000156973	ENSG00000156973	3.1.4.17	"Phosphodiesterases"	8788	protein-coding gene	gene with protein product		602676				9533031, 9570951	Standard	NM_002601		Approved	JBTS22	uc002vse.1	O43924	OTTHUMG00000153785	ENST00000287600.4:c.276C>T	2.37:g.232601992G>A						PDE6D_ENST00000409772.1_Intron	p.F92F	NM_002601.2	NP_002592.1	O43924	PDE6D_HUMAN		Epithelial(121;2.19e-12)|BRCA - Breast invasive adenocarcinoma(100;0.00145)|LUSC - Lung squamous cell carcinoma(224;0.0125)|Lung(119;0.0154)	4	470	-		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.142)	92					O43250	Silent	SNP	ENST00000287600.4	37	c.276C>T	CCDS33398.1																																																																																				0.512	PDE6D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332407.1			12	33	0	0	0	1	0	12	33					A	232601992	G	A	232601992	2	1	412	1	0	0	0	0	0	0	0	1	11648	1049	37	2		2	PDE6D	2	232601992	Silent	SNP	G	TCGA-VP-A878-01A-31D-A34U-08	52972596	232601992	10597381	9	19972											
ARAP2	116984	broad.mit.edu	37	chr4	36130197	36130197	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtagagctccttagtaagcaGtgcatcatcaatgtcagaga	13	10	10	8	0	3	2	3	0	0	2	4	3	4	2	1	0	3	5	1	0	4	3			TCGA-VP-A878-01A-31D-A34U-08	TCGA-VP-A878-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50c8781c-f2c7-4eb3-beb6-322e4c08e79b	62240b66-a483-4a6a-a55c-06b9734d523a	g.chr4:36130197G>A	ENST00000303965.4	-	21	4087	c.3598C>T	c.(3598-3600)Ctg>Ttg	p.L1200L		NM_015230.3	NP_056045.2	Q8WZ64	ARAP2_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2	1200	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				regulation of ARF GTPase activity (GO:0032312)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(32)|ovary(2)|pancreas(1)|prostate(3)|skin(7)|urinary_tract(1)	82						TTAGTAAGCAGTGCATCATCA	0.383																																						ENST00000303965.4																			0				breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(32)|ovary(2)|pancreas(1)|prostate(3)|skin(7)|urinary_tract(1)	82						c.(3598-3600)Ctg>Ttg		ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2							114	110	111					4																	36130197		2203	4300	6503	SO:0001819	synonymous_variant	116984				regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytosol	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|zinc ion binding	g.chr4:36130197G>A	AF411982	CCDS3441.1	4p15.1	2013-01-11	2008-09-22	2008-09-22	ENSG00000047365	ENSG00000047365		"ADP-ribosylation factor GTPase activating proteins", "Sterile alpha motif (SAM) domain containing", "Pleckstrin homology (PH) domain containing", "Ankyrin repeat domain containing"	16924	protein-coding gene	gene with protein product		606645	"centaurin, delta 1"	CENTD1			Standard	NM_015230		Approved	PARX	uc003gsq.2	Q8WZ64	OTTHUMG00000097811	ENST00000303965.4:c.3598C>T	4.37:g.36130197G>A							p.L1200L	NM_015230.3	NP_056045.2	Q8WZ64	ARAP2_HUMAN			21	4087	-			1200			Rho-GAP.		Q4W5D2|Q7Z2L5|Q96L70|Q96P49|Q9Y4E4	Silent	SNP	ENST00000303965.4	37	c.3598C>T	CCDS3441.1																																																																																				0.383	ARAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215074.2	NM_015230		13	44	0	0	0	1	0	13	44					A	36130197	G	A	36130197	2	1	412	1	0	0	0	0	0	0	0	1	839	1020	36	3		3	ARAP2	4	36130197	Silent	SNP	G	TCGA-VP-A878-01A-31D-A34U-08		36130197	155024079	10	19973											
TTC29	83894	broad.mit.edu	37	chr4	147628687	147628687	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgagatacagcttccactgtGgatcctctaaactcttctaa	11	13	6	11	0	3	1	0	1	3	1	5	3	5	2	2	1	3	1	2	1	4	5			TCGA-VP-A878-01A-31D-A34U-08	TCGA-VP-A878-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50c8781c-f2c7-4eb3-beb6-322e4c08e79b	62240b66-a483-4a6a-a55c-06b9734d523a	g.chr4:147628687G>A	ENST00000325106.4	-	12	1573	c.1347C>T	c.(1345-1347)tcC>tcT	p.S449S	TTC29_ENST00000513335.1_Silent_p.S475S|TTC29_ENST00000398886.4_Silent_p.S475S	NM_031956.2	NP_114162.2	Q8NA56	TTC29_HUMAN	tetratricopeptide repeat domain 29	449										breast(2)|cervix(2)|endometrium(3)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	26	all_hematologic(180;0.151)					CTTCCACTGTGGATCCTCTAA	0.328																																						ENST00000513335.1																			0				breast(2)|cervix(2)|endometrium(3)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	26						c.(1423-1425)tcC>tcT		tetratricopeptide repeat domain 29							90	86	87					4																	147628687		1803	4063	5866	SO:0001819	synonymous_variant	83894						binding	g.chr4:147628687G>A	AF345910	CCDS47141.1, CCDS75200.1	4q31.23	2013-01-11				ENSG00000137473		"Tetratricopeptide (TTC) repeat domain containing"	29936	protein-coding gene	gene with protein product						12477932	Standard	NM_031956		Approved	NYD-SP14	uc003ikw.4	Q8NA56		ENST00000325106.4:c.1347C>T	4.37:g.147628687G>A						TTC29_ENST00000398886.4_Silent_p.S475S|TTC29_ENST00000325106.4_Silent_p.S449S	p.S475S			Q8NA56	TTC29_HUMAN			13	1624	-	all_hematologic(180;0.151)		449					A4GU95|Q9BXB6	Silent	SNP	ENST00000325106.4	37	c.1425C>T	CCDS47141.1																																																																																				0.328	TTC29-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_031956		3	30	0	0	0	1	0	3	30					A	147628687	G	A	147628687	2	1	412	1	0	0	0	0	0	0	0	1	16693	1335	47	3		3	TTC29	4	147628687	Silent	SNP	G	TCGA-VP-A878-01A-31D-A34U-08	111498490	147628687	43525589	11	19974											
CDH6	1004	broad.mit.edu	37	chr5	31317987	31317987	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaccccacgggactgagcaCgggggctctggttgccatcc	6	6	13	16	2	1	1	0	1	1	0	2	2	2	2	5	4	2	3	5	4	0	1			TCGA-VP-A878-01A-31D-A34U-08	TCGA-VP-A878-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50c8781c-f2c7-4eb3-beb6-322e4c08e79b	62240b66-a483-4a6a-a55c-06b9734d523a	g.chr5:31317987C>T	ENST00000265071.2	+	11	2103	c.1838C>T	c.(1837-1839)aCg>aTg	p.T613M	CDH6_ENST00000514738.1_Missense_Mutation_p.T558M	NM_004932.3	NP_004923.1	P55285	CADH6_HUMAN	cadherin 6, type 2, K-cadherin (fetal kidney)	613					adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						GGACTGAGCACGGGGGCTCTG	0.592																																						ENST00000265071.2																			0				NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						c.(1837-1839)aCg>aTg		cadherin 6, type 2, K-cadherin (fetal kidney)							69	68	68					5																	31317987		2203	4300	6503	SO:0001583	missense	1004				adherens junction organization|cell junction assembly|homophilic cell adhesion	cytoplasm|integral to membrane|nucleus|plasma membrane	calcium ion binding	g.chr5:31317987C>T	D31784	CCDS3894.1	5p13.3	2010-01-26			ENSG00000113361	ENSG00000113361		"Cadherins / Major cadherins"	1765	protein-coding gene	gene with protein product	"K-Cadherin"	603007				7743525, 10191097	Standard	NM_004932		Approved		uc003jhe.2	P55285	OTTHUMG00000090673	ENST00000265071.2:c.1838C>T	5.37:g.31317987C>T	ENSP00000265071:p.Thr613Met					CDH6_ENST00000514738.1_Missense_Mutation_p.T558M	p.T613M	NM_004932.3	NP_004923.1	P55285	CADH6_HUMAN			11	2103	+			613					A8K5H5|Q9BWS0	Missense_Mutation	SNP	ENST00000265071.2	37	c.1838C>T	CCDS3894.1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.430954	0.83776	.	.	ENSG00000113361	ENST00000514738;ENST00000265071	T;T	0.59083	0.37;0.29	5.29	5.29	0.74685	.	0.000000	0.85682	D	0.000000	T	0.79028	0.4377	M	0.84219	2.685	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.97;0.997	T	0.80054	-0.1543	10	0.49607	T	0.09	.	19.309	0.94177	0.0:1.0:0.0:0.0	.	613;613	P55285;P55285-2	CADH6_HUMAN;.	M	558;613	ENSP00000424843:T558M;ENSP00000265071:T613M	ENSP00000265071:T613M	T	+	2	0	CDH6	31353744	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.776000	0.85560	2.625000	0.88918	0.655000	0.94253	ACG		0.592	CDH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207355.2	NM_004932		12	39	0	0	0	1	0	12	39					T	31317987	C	T	31317987	3	4	412	1	0	0	0	0	1	0	0	0	3114	536	19	1	1876	1	CDH6	5	31317987	Missense_Mutation	SNP	C	TCGA-VP-A878-01A-31D-A34U-08		31317987	149597273	12	19975											
IL6ST	3572	broad.mit.edu	37	chr5	55248076	55248076	+	Splice_Site	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aaagaagtgagtttggacttAcgagcttgtttaaggtatgc	12	13	12	4	1	0	2	0	1	0	1	0	4	0	3	0	2	3	4	0	2	5	6			TCGA-VP-A878-01A-31D-A34U-08	TCGA-VP-A878-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50c8781c-f2c7-4eb3-beb6-322e4c08e79b	62240b66-a483-4a6a-a55c-06b9734d523a	g.chr5:55248076A>C	ENST00000381298.2	-	12	1865		c.e12+1		IL6ST_ENST00000336909.5_Splice_Site|IL6ST_ENST00000536319.1_Splice_Site|IL6ST_ENST00000381287.4_Splice_Site|IL6ST_ENST00000381293.2_Intron|IL6ST_ENST00000381294.3_Splice_Site|IL6ST_ENST00000502326.3_Splice_Site|IL6ST_ENST00000522633.2_Splice_Site|IL6ST_ENST00000381286.3_Intron	NM_001190981.1|NM_002184.3|NM_175767.2	NP_001177910.1|NP_002175.2|NP_786943.1	P40189	IL6RB_HUMAN	interleukin 6 signal transducer						ciliary neurotrophic factor-mediated signaling pathway (GO:0070120)|cytokine-mediated signaling pathway (GO:0019221)|glycogen metabolic process (GO:0005977)|interleukin-27-mediated signaling pathway (GO:0070106)|interleukin-6-mediated signaling pathway (GO:0070102)|leukemia inhibitory factor signaling pathway (GO:0048861)|negative regulation of apoptotic process (GO:0043066)|negative regulation of interleukin-6-mediated signaling pathway (GO:0070104)|oncostatin-M-mediated signaling pathway (GO:0038165)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of adaptive immune response (GO:0002821)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|positive regulation of cell proliferation (GO:0008284)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of Notch signaling pathway (GO:0008593)|response to cytokine (GO:0034097)|viral process (GO:0016032)	ciliary neurotrophic factor receptor complex (GO:0070110)|dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|interleukin-6 receptor complex (GO:0005896)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|oncostatin-M receptor complex (GO:0005900)|plasma membrane (GO:0005886)	ciliary neurotrophic factor receptor activity (GO:0004897)|ciliary neurotrophic factor receptor binding (GO:0005127)|growth factor binding (GO:0019838)|interleukin-11 receptor activity (GO:0004921)|interleukin-27 receptor activity (GO:0045509)|protein homodimerization activity (GO:0042803)			breast(2)|endometrium(5)|kidney(5)|large_intestine(4)|liver(2)|lung(1)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	26		Lung NSC(810;8.69e-05)|Prostate(74;0.00308)|Breast(144;0.0544)|Ovarian(174;0.223)				GTTTGGACTTACGAGCTTGTT	0.338			O		hepatocellular ca																																	ENST00000381298.2				Dom	yes		5	5q11	3572	O	"interleukin 6 signal transducer (gp130, oncostatin M receptor)"			E			hepatocellular ca		0				breast(2)|endometrium(5)|kidney(5)|large_intestine(4)|liver(2)|lung(1)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	26						c.e12+1		interleukin 6 signal transducer (gp130, oncostatin M receptor)							106	103	104					5																	55248076		2203	4300	6503	SO:0001630	splice_region_variant	3572				interleukin-6-mediated signaling pathway|leukemia inhibitory factor signaling pathway|negative regulation of interleukin-6-mediated signaling pathway|positive regulation of anti-apoptosis|positive regulation of cardiac muscle hypertrophy|positive regulation of osteoblast differentiation|positive regulation of T cell proliferation|positive regulation of tyrosine phosphorylation of Stat1 protein|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation vascular endothelial growth factor production	ciliary neurotrophic factor receptor complex|extracellular region|extracellular space|interleukin-6 receptor complex|oncostatin-M receptor complex	ciliary neurotrophic factor receptor activity|ciliary neurotrophic factor receptor binding|growth factor binding|protein homodimerization activity	g.chr5:55248076A>C	M57230	CCDS3971.1, CCDS47209.1, CCDS54856.1	5q11.2	2014-04-04	2014-04-04		ENSG00000134352	ENSG00000134352		"Interleukins and interleukin receptors", "CD molecules", "Fibronectin type III domain containing"	6021	protein-coding gene	gene with protein product	"gp130, oncostatin M receptor"	600694	"interleukin 6 signal transducer (gp130, oncostatin M receptor)"			2261637	Standard	NM_002184		Approved	GP130, CD130	uc003jqq.3	P40189	OTTHUMG00000097043	ENST00000381298.2:c.1552+1T>G	5.37:g.55248076A>C						IL6ST_ENST00000381286.3_Intron|IL6ST_ENST00000381294.3_Splice_Site|IL6ST_ENST00000536319.1_Splice_Site|IL6ST_ENST00000502326.3_Splice_Site|IL6ST_ENST00000522633.2_Splice_Site|IL6ST_ENST00000336909.5_Splice_Site|IL6ST_ENST00000381293.2_Intron|IL6ST_ENST00000381287.4_Splice_Site		NM_001190981.1|NM_002184.3|NM_175767.2	NP_001177910.1|NP_002175.2|NP_786943.1	P40189	IL6RB_HUMAN			12	1865	-		Lung NSC(810;8.69e-05)|Prostate(74;0.00308)|Breast(144;0.0544)|Ovarian(174;0.223)						A0N0L4|Q5FC04|Q9UQ41	Splice_Site	SNP	ENST00000381298.2	37		CCDS3971.1	.	.	.	.	.	.	.	.	.	.	A	21.4	4.142240	0.77775	.	.	ENSG00000134352	ENST00000381298;ENST00000336909;ENST00000381294	.	.	.	5.93	5.93	0.95920	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.3943	0.83563	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	IL6ST	55283833	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	5.063000	0.64332	2.281000	0.76405	0.533000	0.62120	.		0.338	IL6ST-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000214146.3	NM_002184	Intron	14	43	0	0	0	1	0	14	43					C	55248076	A	C	55248076	5	2	412	1	0	0	0	0	0	0	1	0	7703	405	14	5	1226	5	IL6ST	5	55248076	Splice_Site	SNP	A	TCGA-VP-A878-01A-31D-A34U-08	23930089	55248076	125667184	13	19976											
BPHL	670	broad.mit.edu	37	chr6	3127486	3127486	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtttttaggaagtggagaGactgattttggacctcagct	9	14	12	6	0	1	2	1	1	0	1	1	6	1	5	1	3	1	2	1	3	2	5			TCGA-VP-A878-01A-31D-A34U-08	TCGA-VP-A878-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50c8781c-f2c7-4eb3-beb6-322e4c08e79b	62240b66-a483-4a6a-a55c-06b9734d523a	g.chr6:3127486G>T	ENST00000380379.5	+	3	271	c.222G>T	c.(220-222)gaG>gaT	p.E74D	BPHL_ENST00000380368.2_Missense_Mutation_p.E57D|BPHL_ENST00000380375.3_Missense_Mutation_p.E57D|BPHL_ENST00000434640.1_Missense_Mutation_p.E57D	NM_004332.2	NP_004323.2	Q86WA6	BPHL_HUMAN	biphenyl hydrolase-like (serine hydrolase)	74					cellular amino acid metabolic process (GO:0006520)|response to toxic substance (GO:0009636)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	hydrolase activity (GO:0016787)			endometrium(4)|kidney(1)|large_intestine(2)|lung(6)	13	Ovarian(93;0.0386)	all_hematologic(90;0.108)				GAAGTGGAGAGACTGATTTTG	0.473																																						ENST00000380368.2																			0				endometrium(4)|kidney(1)|large_intestine(2)|lung(6)	13						c.(169-171)gaG>gaT		biphenyl hydrolase-like (serine hydrolase)							115	111	113					6																	3127486		2203	4300	6503	SO:0001583	missense	670				cellular amino acid metabolic process|response to toxin	mitochondrion	hydrolase activity	g.chr6:3127486G>T	X81372	CCDS4483.2	6p25	2008-08-29	2008-08-29		ENSG00000137274	ENSG00000137274			1094	protein-coding gene	gene with protein product	"breast epithelial mucin-associated antigen"	603156		MCNAA		7759552, 9721218, 15832508	Standard	NM_004332		Approved	Bph-rp	uc003mva.3	Q86WA6	OTTHUMG00000014140	ENST00000380379.5:c.222G>T	6.37:g.3127486G>T	ENSP00000369739:p.Glu74Asp					BPHL_ENST00000380379.5_Missense_Mutation_p.E74D|BPHL_ENST00000380375.3_Missense_Mutation_p.E57D|BPHL_ENST00000434640.1_Missense_Mutation_p.E57D	p.E57D			Q86WA6	BPHL_HUMAN			4	815	+	Ovarian(93;0.0386)	all_hematologic(90;0.108)	74					Q00306|Q13855|Q3KP51	Missense_Mutation	SNP	ENST00000380379.5	37	c.171G>T	CCDS4483.2	.	.	.	.	.	.	.	.	.	.	G	9.198	1.027689	0.19512	.	.	ENSG00000137274	ENST00000434640;ENST00000380375;ENST00000380368;ENST00000380379	.	.	.	5.43	2.56	0.30785	.	0.530364	0.22398	N	0.060585	T	0.19167	0.0460	L	0.34521	1.04	0.35418	D	0.792984	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.002	T	0.03673	-1.1014	9	0.29301	T	0.29	-6.0078	7.4639	0.27310	0.2024:0.0:0.6662:0.1314	.	74;57	Q86WA6;Q86WA6-2	BPHL_HUMAN;.	D	57;57;57;74	.	ENSP00000369726:E57D	E	+	3	2	BPHL	3072485	1.000000	0.71417	0.916000	0.36221	0.953000	0.61014	1.177000	0.31969	0.732000	0.32470	0.655000	0.94253	GAG		0.473	BPHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039670.5			10	39	1	0	1.11149e-13	1	1.32761e-13	10	39					T	3127486	G	T	3127486	3	4	412	1	0	0	0	0	1	0	0	0	1489	933	33	5	232	5	BPHL	6	3127486	Missense_Mutation	SNP	G	TCGA-VP-A878-01A-31D-A34U-08		3127486	167987581	14	19977											
HIVEP1	3096	broad.mit.edu	37	chr6	12120756	12120756	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	aaaaaacagttcaatggatgCcccaaatcagacttcacagg	17	7	7	10	0	3	1	3	0	0	1	3	2	3	2	2	2	2	1	2	2	5	2			TCGA-VP-A878-01A-31D-A34U-08	TCGA-VP-A878-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50c8781c-f2c7-4eb3-beb6-322e4c08e79b	62240b66-a483-4a6a-a55c-06b9734d523a	g.chr6:12120756C>T	ENST00000379388.2	+	4	1060	c.728C>T	c.(727-729)gCc>gTc	p.A243V		NM_002114.2	NP_002105.2	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer binding protein 1	243					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				TCAATGGATGCCCCAAATCAG	0.433																																						ENST00000379388.2																			0				NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90						c.(727-729)gCc>gTc		human immunodeficiency virus type I enhancer binding protein 1							152	135	140					6																	12120756		1886	4122	6008	SO:0001583	missense	3096				transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding	g.chr6:12120756C>T	J05011	CCDS43426.1	6p24-p22.3	2012-10-05	2001-11-28		ENSG00000095951	ENSG00000095951		"Zinc fingers, C2H2-type"	4920	protein-coding gene	gene with protein product		194540	"human immunodeficiency virus type I enhancer-binding protein 1", "zinc finger protein 40"	ZNF40		2037300	Standard	XR_241895		Approved	CIRIP, MBP-1, CRYBP1, PRDII-BF1, ZAS1, Schnurri-1, ZNF40A	uc003nac.3	P15822	OTTHUMG00000014265	ENST00000379388.2:c.728C>T	6.37:g.12120756C>T	ENSP00000368698:p.Ala243Val						p.A243V	NM_002114.2	NP_002105.2	P15822	ZEP1_HUMAN			4	1060	+	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)	243					B2RTU3|Q14122|Q5MPB1|Q5VW60	Missense_Mutation	SNP	ENST00000379388.2	37	c.728C>T	CCDS43426.1	.	.	.	.	.	.	.	.	.	.	C	6.739	0.505164	0.12822	.	.	ENSG00000095951	ENST00000379388	T	0.09350	2.99	5.69	1.87	0.25490	.	0.458519	0.16266	N	0.222023	T	0.02610	0.0079	L	0.46157	1.445	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.44267	-0.9339	9	.	.	.	-8.7838	5.1818	0.15163	0.0:0.4423:0.2605:0.2972	.	243	P15822	ZEP1_HUMAN	V	243	ENSP00000368698:A243V	.	A	+	2	0	HIVEP1	12228742	0.000000	0.05858	0.001000	0.08648	0.274000	0.26718	0.226000	0.17776	0.331000	0.23511	0.655000	0.94253	GCC		0.433	HIVEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039870.2	NM_002114		5	167	0	0	0	1	0	5	167					T	12120756	C	T	12120756	3	4	412	1	0	0	0	0	1	0	0	0	7186	739	26	3	738	3	HIVEP1	6	12120756	Missense_Mutation	SNP	C	TCGA-VP-A878-01A-31D-A34U-08	8993270	12120756	158994311	15	19978											
DEF6	50619	broad.mit.edu	37	chr6	35277530	35277530	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacttccgagatgatgatgaCggccctgtgtccagccaggg	8	8	13	12	2	0	4	0	3	0	1	2	5	2	4	4	2	1	0	4	2	0	1			TCGA-VP-A878-01A-31D-A34U-08	TCGA-VP-A878-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50c8781c-f2c7-4eb3-beb6-322e4c08e79b	62240b66-a483-4a6a-a55c-06b9734d523a	g.chr6:35277530C>T	ENST00000316637.5	+	2	185	c.180C>T	c.(178-180)gaC>gaT	p.D60D	DEF6_ENST00000542066.1_5'UTR	NM_022047.3	NP_071330.3	Q9H4E7	DEFI6_HUMAN	differentially expressed in FDCP 6 homolog (mouse)	60	Poly-Asp.					cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				cervix(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)	15						ATGATGATGACGGCCCTGTGT	0.577																																						ENST00000316637.5																			0				cervix(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)	15						c.(178-180)gaC>gaT		differentially expressed in FDCP 6 homolog (mouse)							170	125	141					6																	35277530		2203	4300	6503	SO:0001819	synonymous_variant	50619					cytoplasm|nucleus|plasma membrane		g.chr6:35277530C>T	AJ276095	CCDS4802.1	6p21.33-p21.1	2013-01-10	2001-11-28		ENSG00000023892	ENSG00000023892		"Pleckstrin homology (PH) domain containing"	2760	protein-coding gene	gene with protein product	"SWAP-70-like adaptor protein of T cells"	610094	"differentially expressed in FDCP (mouse homolog) 6"			19251698	Standard	NM_022047		Approved	IBP, SLAT, SWAP70L	uc003okk.3	Q9H4E7	OTTHUMG00000014563	ENST00000316637.5:c.180C>T	6.37:g.35277530C>T						DEF6_ENST00000542066.1_5'UTR	p.D60D	NM_022047.3	NP_071330.3	Q9H4E7	DEFI6_HUMAN			2	185	+			60			Poly-Asp.		Q86VF4	Silent	SNP	ENST00000316637.5	37	c.180C>T	CCDS4802.1	.	.	.	.	.	.	.	.	.	.	C	5.498	0.276948	0.10403	.	.	ENSG00000023892	ENST00000444278	.	.	.	5.22	-5.26	0.02772	.	.	.	.	.	T	0.48960	0.1529	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.61282	-0.7094	4	.	.	.	-23.35	14.2879	0.66258	0.0:0.4543:0.0:0.5457	.	.	.	.	W	6	.	.	R	+	1	2	DEF6	35385508	0.000000	0.05858	0.663000	0.29738	0.581000	0.36288	-2.560000	0.00921	-0.952000	0.03649	-2.100000	0.00362	CGG		0.577	DEF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040276.1	NM_022047		11	32	0	0	0	1	0	11	32					T	35277530	C	T	35277530	2	4	412	1	0	0	0	0	0	0	0	1	4386	535	19	1		1	DEF6	6	35277530	Silent	SNP	C	TCGA-VP-A878-01A-31D-A34U-08	23156774	35277530	135837537	16	19979											
STYXL1	51657	broad.mit.edu	37	chr7	75633123	75633123	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agggaagaatctgggcttccGgggaatcttctatccggatg	9	10	14	8	2	3	1	0	0	3	1	5	4	5	4	2	5	0	1	2	5	4	3			TCGA-VP-A878-01A-31D-A34U-08	TCGA-VP-A878-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50c8781c-f2c7-4eb3-beb6-322e4c08e79b	62240b66-a483-4a6a-a55c-06b9734d523a	g.chr7:75633123G>A	ENST00000248600.1	-	7	992	c.650C>T	c.(649-651)cCg>cTg	p.P217L	STYXL1_ENST00000431581.1_Missense_Mutation_p.P217L|STYXL1_ENST00000359697.3_Missense_Mutation_p.P217L|STYXL1_ENST00000451157.1_Missense_Mutation_p.P217L|STYXL1_ENST00000360591.3_3'UTR|STYXL1_ENST00000340062.5_Missense_Mutation_p.P121L	NM_016086.2	NP_057170.1	Q9Y6J8	STYL1_HUMAN	serine/threonine/tyrosine interacting-like 1	217	Tyrosine-protein phosphatase.				intracellular signal transduction (GO:0035556)|protein dephosphorylation (GO:0006470)		protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(1)	10						CTGGGCTTCCGGGGAATCTTC	0.537																																						ENST00000451157.1																			0				endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(1)	10						c.(649-651)cCg>cTg		serine/threonine/tyrosine interacting-like 1							146	106	119					7																	75633123		2203	4300	6503	SO:0001583	missense	51657				intracellular signal transduction|protein dephosphorylation	intracellular	protein binding|protein tyrosine/serine/threonine phosphatase activity	g.chr7:75633123G>A	AF069762	CCDS5580.1	7q11.23	2011-06-09	2005-09-22	2005-09-22	ENSG00000127952	ENSG00000127952		"Protein tyrosine phosphatases / Class I Cys-based PTPs : MAP kinase phosphatases"	18165	protein-coding gene	gene with protein product			"dual specificity phosphatase 24 (putative)"	DUSP24		9757831	Standard	NM_016086		Approved	MK-STYX	uc003uel.3	Q9Y6J8	OTTHUMG00000130459	ENST00000248600.1:c.650C>T	7.37:g.75633123G>A	ENSP00000248600:p.Pro217Leu					STYXL1_ENST00000431581.1_Missense_Mutation_p.P217L|STYXL1_ENST00000359697.3_Missense_Mutation_p.P217L|STYXL1_ENST00000360591.3_3'UTR|STYXL1_ENST00000340062.5_Missense_Mutation_p.P121L|STYXL1_ENST00000248600.1_Missense_Mutation_p.P217L	p.P217L			Q9Y6J8	STYL1_HUMAN			7	819	-			217			Tyrosine-protein phosphatase.		Q9UBP1|Q9UK06|Q9UK07|Q9UKG2|Q9UKG3	Missense_Mutation	SNP	ENST00000248600.1	37	c.650C>T	CCDS5580.1	.	.	.	.	.	.	.	.	.	.	G	3.290	-0.145239	0.06627	.	.	ENSG00000127952	ENST00000248600;ENST00000359697;ENST00000340062;ENST00000404050;ENST00000431581;ENST00000454618;ENST00000451157	T;T;T;T;T;T	0.27890	1.64;1.64;1.64;1.64;1.64;1.64	3.74	-1.94	0.07571	Dual specificity phosphatase, catalytic domain (1);Dual specificity phosphatase, subgroup, catalytic domain (2);	0.752924	0.13178	N	0.407733	T	0.22742	0.0549	L	0.56396	1.775	0.09310	N	1	B;B;B;B;B;B	0.26809	0.16;0.02;0.062;0.013;0.011;0.014	B;B;B;B;B;B	0.24006	0.05;0.024;0.021;0.009;0.021;0.014	T	0.35549	-0.9784	10	0.11794	T	0.64	-0.0616	8.2963	0.31986	0.7067:0.0:0.2933:0.0	.	217;217;217;121;217;121	Q9Y6J8-3;C9J4H0;Q9Y6J8-2;Q9Y6J8-4;Q9Y6J8;Q7Z3H6	.;.;.;.;STYL1_HUMAN;.	L	217;217;121;217;217;172;217	ENSP00000248600:P217L;ENSP00000352726:P217L;ENSP00000343383:P121L;ENSP00000392221:P217L;ENSP00000406073:P172L;ENSP00000411812:P217L	ENSP00000248600:P217L	P	-	2	0	STYXL1	75471059	0.000000	0.05858	0.000000	0.03702	0.025000	0.11179	-1.234000	0.02931	-0.406000	0.07588	0.563000	0.77884	CCG		0.537	STYXL1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344825.1	NM_016086		11	31	0	0	0	1	0	11	31					A	75633123	G	A	75633123	3	1	412	1	0	0	0	0	1	0	0	0	15360	1116	39	2	303	2	STYXL1	7	75633123	Missense_Mutation	SNP	G	TCGA-VP-A878-01A-31D-A34U-08		75633123	83505540	17	19980											
COL1A2	1278	broad.mit.edu	37	chr7	94052353	94052353	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgaccaaggtccagttggcCgaactggagaagtaggtgca	11	7	15	8	1	0	2	0	1	0	1	1	4	1	2	3	4	2	3	3	4	4	2			TCGA-VP-A878-01A-31D-A34U-08	TCGA-VP-A878-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50c8781c-f2c7-4eb3-beb6-322e4c08e79b	62240b66-a483-4a6a-a55c-06b9734d523a	g.chr7:94052353C>T	ENST00000297268.6	+	40	2959	c.2488C>T	c.(2488-2490)Cga>Tga	p.R830*		NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	collagen, type I, alpha 2	830			Missing (in OI2). {ECO:0000269|PubMed:1339453}.		blood coagulation (GO:0007596)|blood vessel development (GO:0001568)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|leukocyte migration (GO:0050900)|odontogenesis (GO:0042476)|platelet activation (GO:0030168)|protein heterotrimerization (GO:0070208)|regulation of blood pressure (GO:0008217)|Rho protein signal transduction (GO:0007266)|skeletal system development (GO:0001501)|skin morphogenesis (GO:0043589)|transforming growth factor beta receptor signaling pathway (GO:0007179)	collagen type I trimer (GO:0005584)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	extracellular matrix structural constituent (GO:0005201)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|protein binding, bridging (GO:0030674)		COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	TCCAGTTGGCCGAACTGGAGA	0.567										HNSCC(75;0.22)																												ENST00000297268.6																		COL1A2/PLAG1(3)	0				NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115						c.(2488-2490)Cga>Tga		collagen, type I, alpha 2	Collagenase(DB00048)						156	145	149					7																	94052353		2203	4300	6503	SO:0001587	stop_gained	1278				axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging	g.chr7:94052353C>T	Z74616	CCDS34682.1	7q21.3	2014-09-17	2002-02-13		ENSG00000164692	ENSG00000164692		"Collagens"	2198	protein-coding gene	gene with protein product	"alpha 2(I)-collagen", "alpha-2 collagen type I", "type I procollagen", "collagen I, alpha-2 polypeptide", "collagen of skin, tendon and bone, alpha-2 chain"	120160	"osteogenesis imperfecta type IV"	OI4		3857213, 2897363	Standard	NM_000089		Approved		uc003ung.1	P08123	OTTHUMG00000148675	ENST00000297268.6:c.2488C>T	7.37:g.94052353C>T	ENSP00000297268:p.Arg830*	HNSCC(75;0.22)					p.R830*	NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	STAD - Stomach adenocarcinoma(171;0.0031)		40	2959	+	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		830		Missing (in OI2A).			P02464|Q13897|Q13997|Q13998|Q14038|Q14057|Q15177|Q15947|Q16480|Q16511|Q7Z5S6|Q9UEB6|Q9UEF9|Q9UM83|Q9UMI1|Q9UML5|Q9UMM6|Q9UPH0	Nonsense_Mutation	SNP	ENST00000297268.6	37	c.2488C>T	CCDS34682.1	.	.	.	.	.	.	.	.	.	.	C	44	11.258435	0.99538	.	.	ENSG00000164692	ENST00000297268;ENST00000545487	.	.	.	5.23	4.34	0.51931	.	0.146062	0.46758	D	0.000268	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.5039	0.75722	0.1397:0.8603:0.0:0.0	.	.	.	.	X	830;831	.	ENSP00000297268:R830X	R	+	1	2	COL1A2	93890289	0.998000	0.40836	1.000000	0.80357	0.991000	0.79684	1.529000	0.35996	1.335000	0.45486	0.563000	0.77884	CGA		0.567	COL1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309045.2	NM_000089		14	65	0	0	0	1	0	14	65					T	94052353	C	T	94052353	4	4	412	1	0	0	0	0	0	1	0	0	3678	644	23	2	2646	2	COL1A2	7	94052353	Nonsense_Mutation	SNP	C	TCGA-VP-A878-01A-31D-A34U-08	18419230	94052353	65086310	18	19981											
TRRAP	8295	broad.mit.edu	37	chr7	98515241	98515241	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacgctggagctgtgtgtggAcaacctgcagcccgacttcc	7	8	13	13	2	0	0	0	0	0	0	1	4	1	2	3	2	4	3	3	2	1	1			TCGA-VP-A878-01A-31D-A34U-08	TCGA-VP-A878-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50c8781c-f2c7-4eb3-beb6-322e4c08e79b	62240b66-a483-4a6a-a55c-06b9734d523a	g.chr7:98515241A>G	ENST00000359863.4	+	20	2770	c.2561A>G	c.(2560-2562)gAc>gGc	p.D854G	TRRAP_ENST00000446306.3_Missense_Mutation_p.D853G|TRRAP_ENST00000355540.3_Missense_Mutation_p.D854G	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	854					chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone deubiquitination (GO:0016578)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|mitotic cell cycle checkpoint (GO:0007093)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PCAF complex (GO:0000125)|STAGA complex (GO:0030914)|Swr1 complex (GO:0000812)|transcription factor TFTC complex (GO:0033276)	phosphotransferase activity, alcohol group as acceptor (GO:0016773)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			CTGTGTGTGGACAACCTGCAG	0.572																																						ENST00000359863.4																			0				NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176						c.(2560-2562)gAc>gGc		transformation/transcription domain-associated protein							104	83	90					7																	98515241		2203	4300	6503	SO:0001583	missense	8295				histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity	g.chr7:98515241A>G	AF076974	CCDS5659.1, CCDS59066.1	7q21.2-q22.1	2010-06-22			ENSG00000196367	ENSG00000196367			12347	protein-coding gene	gene with protein product		603015				9708738, 9885574	Standard	NM_003496		Approved	TR-AP, PAF400, Tra1	uc003upp.3	Q9Y4A5	OTTHUMG00000150403	ENST00000359863.4:c.2561A>G	7.37:g.98515241A>G	ENSP00000352925:p.Asp854Gly					TRRAP_ENST00000355540.3_Missense_Mutation_p.D854G|TRRAP_ENST00000446306.3_Missense_Mutation_p.D853G	p.D854G	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)		20	2770	+	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		854					A4D265|O75218|Q9Y631|Q9Y6H4	Missense_Mutation	SNP	ENST00000359863.4	37	c.2561A>G	CCDS59066.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	28.7|28.7	4.943255|4.943255	0.92593|0.92593	.|.	.|.	ENSG00000196367|ENSG00000196367	ENST00000359863;ENST00000355540;ENST00000446306|ENST00000456197	T;T|.	0.65364|.	-0.15;-0.15|.	5.46|5.46	5.46|5.46	0.80206|0.80206	Armadillo-like helical (1);Armadillo-type fold (2);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.85991|0.85991	0.5826|0.5826	M|M	0.94021|0.94021	3.485|3.485	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	1.0;1.0;1.0|.	D;D;D|.	0.87578|.	0.998;0.997;0.997|.	D|D	0.89837|0.89837	0.4000|0.4000	10|5	0.87932|.	D|.	0|.	.|.	15.5258|15.5258	0.75905|0.75905	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	854;568;854|.	Q9Y4A5-2;Q59FH1;Q9Y4A5|.	.;.;TRRAP_HUMAN|.	G|A	854;854;852|569	ENSP00000352925:D854G;ENSP00000347733:D854G|.	ENSP00000347733:D854G|.	D|T	+|+	2|1	0|0	TRRAP|TRRAP	98353177|98353177	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.984000|0.984000	0.73092|0.73092	9.339000|9.339000	0.96797|0.96797	2.075000|2.075000	0.62263|0.62263	0.379000|0.379000	0.24179|0.24179	GAC|ACA		0.572	TRRAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317978.1	NM_003496		10	40	0	0	0	1	0	10	40					G	98515241	A	G	98515241	3	3	412	1	0	0	0	0	1	0	0	0	16598	275	10	4	2635	4	TRRAP	7	98515241	Missense_Mutation	SNP	A	TCGA-VP-A878-01A-31D-A34U-08	4462888	98515241	60623422	19	19982											
MUC17	140453	broad.mit.edu	37	chr7	100677794	100677794	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ctgctgaaggtaccagcatgCcaacctcaactcctagtgaa	12	8	8	13	0	1	2	1	2	0	0	2	2	2	2	4	1	6	3	4	1	6	2			TCGA-VP-A878-01A-31D-A34U-08	TCGA-VP-A878-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50c8781c-f2c7-4eb3-beb6-322e4c08e79b	62240b66-a483-4a6a-a55c-06b9734d523a	g.chr7:100677794C>T	ENST00000306151.4	+	3	3161	c.3097C>T	c.(3097-3099)Cca>Tca	p.P1033S		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1033	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					TACCAGCATGCCAACCTCAAC	0.507																																						ENST00000306151.4																			0				NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343						c.(3097-3099)Cca>Tca		mucin 17, cell surface associated							502	397	433					7																	100677794		2203	4298	6501	SO:0001583	missense	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100677794C>T	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"Mucins"	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.3097C>T	7.37:g.100677794C>T	ENSP00000302716:p.Pro1033Ser						p.P1033S	NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN			3	3161	+	Lung NSC(181;0.136)|all_lung(186;0.182)		1033			59 X approximate tandem repeats.|Ser-rich.		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	c.3097C>T	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	C	0.975	-0.698989	0.03279	.	.	ENSG00000169876	ENST00000306151	T	0.03152	4.03	0.74	-1.48	0.08745	.	.	.	.	.	T	0.01320	0.0043	N	0.03608	-0.345	0.09310	N	1	B	0.21225	0.053	B	0.13407	0.009	T	0.46331	-0.9199	9	0.06891	T	0.86	.	4.0354	0.09727	0.0:0.4732:0.0:0.5268	.	1033	Q685J3	MUC17_HUMAN	S	1033	ENSP00000302716:P1033S	ENSP00000302716:P1033S	P	+	1	0	MUC17	100464514	0.000000	0.05858	0.000000	0.03702	0.014000	0.08584	-1.288000	0.02783	-0.717000	0.04955	0.134000	0.15878	CCA		0.507	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		5	508	0	0	0	1	0	5	508					T	100677794	C	T	100677794	3	4	412	1	0	0	0	0	1	0	0	0	9974	739	26	3	3107	3	MUC17	7	100677794	Missense_Mutation	SNP	C	TCGA-VP-A878-01A-31D-A34U-08	2162553	100677794	58460869	20	19983											
MLL5	55904	broad.mit.edu	37	chr7	104747889	104747890	+	Frame_Shift_Del	DEL	AA	AA	-																															gaactgggtctgcaagaaatAaagactattggttatacgag																										TCGA-VP-A878-01A-31D-A34U-08	TCGA-VP-A878-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50c8781c-f2c7-4eb3-beb6-322e4c08e79b	62240b66-a483-4a6a-a55c-06b9734d523a	g.chr7:104747889_104747890delAA	ENST00000311117.3	+	22	3530_3531	c.2985_2986delAA	c.(2983-2988)ataaagfs	p.K996fs	CTB-152G17.6_ENST00000607968.1_RNA|KMT2E_ENST00000334877.4_Frame_Shift_Del_p.K996fs|KMT2E_ENST00000257745.4_Frame_Shift_Del_p.K996fs|KMT2E_ENST00000334914.7_Frame_Shift_Del_p.K51fs	NM_182931.2	NP_891847.1	Q8IZD2	KMT2E_HUMAN	lysine (K)-specific methyltransferase 2E	996					cell cycle arrest (GO:0007050)|cellular response to retinoic acid (GO:0071300)|DNA methylation (GO:0006306)|erythrocyte differentiation (GO:0030218)|histone H3-K4 methylation (GO:0051568)|neutrophil activation (GO:0042119)|neutrophil mediated immunity (GO:0002446)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of transcription, DNA-templated (GO:0045893)|retinoic acid receptor signaling pathway (GO:0048384)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|MLL5-L complex (GO:0070688)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)										TGCAAGAAATAAAGACTATTGG	0.406																																						ENST00000334877.4																			0											c.(2983-2988)atagfs		lysine (K)-specific methyltransferase 2E																																				SO:0001589	frameshift_variant	55904							g.chr7:104747889_104747890delAA	AF067804	CCDS34723.1	7q22.1	2013-05-09	2013-05-09	2013-05-09	ENSG00000005483	ENSG00000005483		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	18541	protein-coding gene	gene with protein product		608444	"myeloid/lymphoid or mixed-lineage leukemia 5 (trithorax homolog, Drosophila)"	MLL5		9218106, 7672722	Standard	XM_005250493		Approved	HDCMC04P		Q8IZD2	OTTHUMG00000157403	ENST00000311117.3:c.2985_2986delAA	7.37:g.104747889_104747890delAA	ENSP00000312379:p.Lys996fs					KMT2E_ENST00000334914.7_Frame_Shift_Del_p.IK50fs|KMT2E_ENST00000311117.3_Frame_Shift_Del_p.IK995fs|KMT2E_ENST00000257745.4_Frame_Shift_Del_p.IK995fs	p.IK995fs							22	3519_3520	+								B6ZDE4|B6ZDM3|M4K8J3|Q6P5Y2|Q6PKG4|Q6T316|Q86TI3|Q86W12|Q86WG0|Q86WL2|Q8IV78|Q8IWR5|Q8NFF8|Q9NWE7	Frame_Shift_Del	DEL	ENST00000311117.3	37	c.2985_2986delAA	CCDS34723.1																																																																																				0.406	KMT2E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348697.1			14	58						14	58	---	---	---	---	-	104747890	AA	-	104747889	7	5	412	1	0	1	0	1	0	0	0	0	9624	352	13	0	3063	0	MLL5	7	104747889	Frame_Shift_Del	DEL	AA	TCGA-VP-A878-01A-31D-A34U-08	4070095	104747889	54390774	21	19984											
SLC26A3	1811	broad.mit.edu	37	chr7	107431510	107431510	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cacctggatgattccagaaaGcactgtgactgatgccgccg	10	8	11	12	2	0	4	0	3	0	1	1	5	1	5	4	1	2	1	4	1	1	1			TCGA-VP-A878-01A-31D-A34U-08	TCGA-VP-A878-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50c8781c-f2c7-4eb3-beb6-322e4c08e79b	62240b66-a483-4a6a-a55c-06b9734d523a	g.chr7:107431510G>A	ENST00000340010.5	-	5	737	c.553C>T	c.(553-555)Ctt>Ttt	p.L185F	SLC26A3_ENST00000422236.2_Missense_Mutation_p.L150F	NM_000111.2	NP_000102.1	P40879	S26A3_HUMAN	solute carrier family 26 (anion exchanger), member 3	185					anion transport (GO:0006820)|cellular response to cAMP (GO:0071320)|excretion (GO:0007588)|intracellular pH elevation (GO:0051454)|ion transport (GO:0006811)|membrane hyperpolarization (GO:0060081)|regulation of RNA biosynthetic process (GO:2001141)|regulation of transcription, DNA-templated (GO:0006355)|sperm capacitation (GO:0048240)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|sperm midpiece (GO:0097225)	anion:anion antiporter activity (GO:0015301)|bicarbonate transmembrane transporter activity (GO:0015106)|chloride transmembrane transporter activity (GO:0015108)|secondary active sulfate transmembrane transporter activity (GO:0008271)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription cofactor activity (GO:0003712)|transporter activity (GO:0005215)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(18)|ovary(4)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	46						ATTCCAGAAAGCACTGTGACT	0.493																																						ENST00000340010.5																			0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(18)|ovary(4)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	46						c.(553-555)Ctt>Ttt		solute carrier family 26 (anion exchanger), member 3							73	63	67					7																	107431510		2203	4300	6503	SO:0001583	missense	1811				excretion	integral to membrane|membrane fraction	inorganic anion exchanger activity|secondary active sulfate transmembrane transporter activity|sequence-specific DNA binding transcription factor activity|transcription cofactor activity	g.chr7:107431510G>A	L02785	CCDS5748.1	7q31	2014-09-17	2013-07-18		ENSG00000091138	ENSG00000091138		"Solute carriers"	3018	protein-coding gene	gene with protein product		126650	"congenital chloride diarrhea", "solute carrier family 26, member 3"	DRA, CLD		8020951, 11087667	Standard	NM_000111		Approved		uc003ver.2	P40879	OTTHUMG00000154812	ENST00000340010.5:c.553C>T	7.37:g.107431510G>A	ENSP00000345873:p.Leu185Phe					SLC26A3_ENST00000422236.2_Missense_Mutation_p.L150F	p.L185F	NM_000111.2	NP_000102.1	P40879	S26A3_HUMAN			5	737	-			185						Missense_Mutation	SNP	ENST00000340010.5	37	c.553C>T	CCDS5748.1	.	.	.	.	.	.	.	.	.	.	G	11.26	1.585393	0.28268	.	.	ENSG00000091138	ENST00000422236;ENST00000340010	D;D	0.95412	-3.59;-3.7	5.69	4.82	0.62117	.	0.000000	0.85682	D	0.000000	D	0.94958	0.8369	M	0.75150	2.29	0.54753	D	0.999987	P;P	0.39003	0.468;0.654	B;B	0.40375	0.323;0.327	D	0.94110	0.7370	10	0.42905	T	0.14	.	14.8865	0.70572	0.0688:0.0:0.9312:0.0	.	150;185	G5E9U3;P40879	.;S26A3_HUMAN	F	150;185	ENSP00000415817:L150F;ENSP00000345873:L185F	ENSP00000345873:L185F	L	-	1	0	SLC26A3	107218746	1.000000	0.71417	0.883000	0.34634	0.025000	0.11179	3.569000	0.53827	1.426000	0.47256	-0.216000	0.12614	CTT		0.493	SLC26A3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337190.1	NM_000111		6	28	0	0	0	1	0	6	28					A	107431510	G	A	107431510	3	1	412	1	0	0	0	0	1	0	0	0	14518	971	34	3	1809	3	SLC26A3	7	107431510	Missense_Mutation	SNP	G	TCGA-VP-A878-01A-31D-A34U-08	2683621	107431510	51707153	22	19985											
CSPP1	79848	broad.mit.edu	37	chr8	67986537	67986537	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	agagcaaaaagccagattggCcgaagacaaagcagagttgg	17	4	13	7	1	0	4	0	0	0	4	0	5	0	4	2	2	3	3	2	2	4	2			TCGA-VP-A878-01A-31D-A34U-08	TCGA-VP-A878-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50c8781c-f2c7-4eb3-beb6-322e4c08e79b	62240b66-a483-4a6a-a55c-06b9734d523a	g.chr8:67986537C>A	ENST00000262210.5	+	2	189	c.158C>A	c.(157-159)gCc>gAc	p.A53D	CSPP1_ENST00000412460.1_5'UTR|COPS5_ENST00000519963.1_Intron	NM_024790.6	NP_079066.5	Q1MSJ5	CSPP1_HUMAN	centrosome and spindle pole associated protein 1	53					positive regulation of cell division (GO:0051781)|positive regulation of cytokinesis (GO:0032467)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|spindle (GO:0005819)|spindle pole (GO:0000922)				NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|prostate(3)|skin(1)|urinary_tract(1)	49	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.00145)|OV - Ovarian serous cystadenocarcinoma(28;0.00589)|all cancers(69;0.0069)|BRCA - Breast invasive adenocarcinoma(89;0.153)			GCCAGATTGGCCGAAGACAAA	0.313																																						ENST00000262210.5																			0				NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|prostate(3)|skin(1)|urinary_tract(1)	49						c.(157-159)gCc>gAc		centrosome and spindle pole associated protein 1							90	93	92					8																	67986537		1809	4070	5879	SO:0001583	missense	79848					centrosome|microtubule|spindle		g.chr8:67986537C>A	AJ583433	CCDS43744.1	8q13.2	2014-02-24			ENSG00000104218	ENSG00000104218			26193	protein-coding gene	gene with protein product		611654				15580290, 24360807	Standard	NM_024790		Approved	FLJ22490, CSPP, JBTS21	uc003xxj.3	Q1MSJ5	OTTHUMG00000164564	ENST00000262210.5:c.158C>A	8.37:g.67986537C>A	ENSP00000262210:p.Ala53Asp					CSPP1_ENST00000412460.1_5'UTR|COPS5_ENST00000519963.1_Intron	p.A53D	NM_024790.6	NP_079066.5	Q1MSJ5	CSPP1_HUMAN	Epithelial(68;0.00145)|OV - Ovarian serous cystadenocarcinoma(28;0.00589)|all cancers(69;0.0069)|BRCA - Breast invasive adenocarcinoma(89;0.153)		2	189	+	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	53					A6ND63|Q70F00|Q8TBC1	Missense_Mutation	SNP	ENST00000262210.5	37	c.158C>A	CCDS43744.1	.	.	.	.	.	.	.	.	.	.	C	20.1	3.940221	0.73557	.	.	ENSG00000104218	ENST00000521919;ENST00000262210;ENST00000389042	T;T	0.65549	-0.16;0.49	5.4	4.51	0.55191	.	0.000000	0.31589	U	0.007386	T	0.72787	0.3504	L	0.59436	1.845	0.80722	D	1	D;D;D	0.61697	0.99;0.988;0.988	P;P;P	0.61201	0.815;0.885;0.885	T	0.75654	-0.3243	10	0.87932	D	0	-5.7435	14.7261	0.69346	0.0:0.9254:0.0:0.0746	.	53;53;53	Q1MSJ5-1;Q1MSJ5;F8W7C3	.;CSPP1_HUMAN;.	D	17;53;53	ENSP00000429546:A17D;ENSP00000262210:A53D	ENSP00000262210:A53D	A	+	2	0	CSPP1	68149091	0.995000	0.38212	0.998000	0.56505	0.570000	0.35934	3.410000	0.52664	2.690000	0.91761	0.563000	0.77884	GCC		0.313	CSPP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379254.1	NM_024790		8	45	1	0	0.0581538	1	0.0581538	8	45					A	67986537	C	A	67986537	3	1	412	1	0	0	0	0	1	0	0	0	3962	739	26	5	164	5	CSPP1	8	67986537	Missense_Mutation	SNP	C	TCGA-VP-A878-01A-31D-A34U-08		67986537	78377485	23	19986											
ZMYND11	10771	broad.mit.edu	37	chr10	288038	288041	+	Frame_Shift_Del	DEL	CAAT	CAAT	-																															aaagtcatgcagaaagaagaCaatcaagtcgacgttcgctt																										TCGA-VP-A878-01A-31D-A34U-08	TCGA-VP-A878-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50c8781c-f2c7-4eb3-beb6-322e4c08e79b	62240b66-a483-4a6a-a55c-06b9734d523a	g.chr10:288038_288041delCAAT	ENST00000397962.3	+	10	1337_1340	c.909_912delCAAT	c.(907-912)gacaatfs	p.DN303fs	ZMYND11_ENST00000381604.4_Frame_Shift_Del_p.DN263fs|ZMYND11_ENST00000381602.4_Frame_Shift_Del_p.DN263fs|ZMYND11_ENST00000397959.3_Frame_Shift_Del_p.DN218fs|ZMYND11_ENST00000602682.1_Frame_Shift_Del_p.DN218fs|ZMYND11_ENST00000535374.1_Frame_Shift_Del_p.DN98fs|ZMYND11_ENST00000381607.4_Frame_Shift_Del_p.DN209fs|ZMYND11_ENST00000509513.2_Frame_Shift_Del_p.DN302fs|ZMYND11_ENST00000403354.1_Frame_Shift_Del_p.DN223fs|ZMYND11_ENST00000381584.1_Frame_Shift_Del_p.DN286fs|ZMYND11_ENST00000545619.1_Frame_Shift_Del_p.DN183fs|ZMYND11_ENST00000381591.1_Frame_Shift_Del_p.DN303fs|ZMYND11_ENST00000558098.2_Frame_Shift_Del_p.DN303fs|ZMYND11_ENST00000402736.1_Frame_Shift_Del_p.DN272fs|ZMYND11_ENST00000309776.4_Frame_Shift_Del_p.DN263fs			Q15326	ZMY11_HUMAN	zinc finger, MYND-type containing 11	303	PWWP. {ECO:0000255|PROSITE- ProRule:PRU00162}.				cell cycle (GO:0007049)|cell proliferation (GO:0008283)|chromatin modification (GO:0016568)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of JNK cascade (GO:0046329)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription elongation from RNA polymerase II promoter (GO:0034243)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromosome (GO:0005694)|nucleus (GO:0005634)	DNA binding (GO:0003677)|methylated histone binding (GO:0035064)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|skin(2)	24		all_cancers(4;1.32e-05)|all_lung(4;3.67e-05)|Lung NSC(4;0.000301)|all_epithelial(10;0.000416)|Colorectal(49;0.14)	OV - Ovarian serous cystadenocarcinoma(33;0.132)	Epithelial(11;0.00289)|all cancers(11;0.0108)|Lung(33;0.0689)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		AGAAAGAAGACAATCAAGTCGACG	0.426																																						ENST00000309776.4																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|skin(2)	24						c.(787-792)gafs		zinc finger, MYND-type containing 11																																				SO:0001589	frameshift_variant	10771				cell cycle|cell proliferation|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr10:288038_288041delCAAT	X86098	CCDS7052.1, CCDS7053.1, CCDS7052.2, CCDS55696.1, CCDS55697.1, CCDS7053.2, CCDS73060.1, CCDS73061.1	10p14	2011-01-26	2011-01-26		ENSG00000015171	ENSG00000015171		"Zinc fingers, MYND-type"	16966	protein-coding gene	gene with protein product		608668	"zinc finger, MYND domain containing 11"			7621829, 10734313	Standard	NM_006624		Approved	BS69	uc010pzx.2	Q15326	OTTHUMG00000017526	ENST00000397962.3:c.909_912delCAAT	10.37:g.288038_288041delCAAT	ENSP00000381053:p.Asp303fs					ZMYND11_ENST00000381584.1_Frame_Shift_Del_p.DN286fs|ZMYND11_ENST00000397959.3_Frame_Shift_Del_p.DN218fs|ZMYND11_ENST00000509513.2_Frame_Shift_Del_p.DN302fs|ZMYND11_ENST00000402736.1_Frame_Shift_Del_p.DN272fs|ZMYND11_ENST00000545619.1_Frame_Shift_Del_p.DN183fs|ZMYND11_ENST00000381604.4_Frame_Shift_Del_p.DN263fs|ZMYND11_ENST00000558098.2_Frame_Shift_Del_p.DN303fs|ZMYND11_ENST00000403354.1_Frame_Shift_Del_p.DN223fs|ZMYND11_ENST00000381602.4_Frame_Shift_Del_p.DN263fs|ZMYND11_ENST00000397962.3_Frame_Shift_Del_p.DN303fs|ZMYND11_ENST00000602682.1_Frame_Shift_Del_p.DN218fs|ZMYND11_ENST00000381607.4_Frame_Shift_Del_p.DN209fs|ZMYND11_ENST00000381591.1_Frame_Shift_Del_p.DN303fs|ZMYND11_ENST00000535374.1_Frame_Shift_Del_p.DN98fs	p.DN263fs	NM_001202466.1|NM_006624.5	NP_001189395.1|NP_006615.2	Q15326	ZMY11_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;0.132)	Epithelial(11;0.00289)|all cancers(11;0.0108)|Lung(33;0.0689)|OV - Ovarian serous cystadenocarcinoma(14;0.106)	10	1337_1340	+		all_cancers(4;1.32e-05)|all_lung(4;3.67e-05)|Lung NSC(4;0.000301)|all_epithelial(10;0.000416)|Colorectal(49;0.14)	263			PWWP.		B2R6G8|B7Z293|F6UH50|Q2LD45|Q2LD46|Q2LD47|Q2LD48|Q5VUI1|Q8N4B3	Frame_Shift_Del	DEL	ENST00000397962.3	37	c.789_792delCAAT	CCDS7052.2																																																																																				0.426	ZMYND11-206	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046382.4	NM_006624		15	73						15	73	---	---	---	---	-	288041	CAAT	-	288038	7	5	412	1	0	1	0	1	0	0	0	0	17703	477	17	0	943	0	ZMYND11	10	288038	Frame_Shift_Del	DEL	CAAT	TCGA-VP-A878-01A-31D-A34U-08		288038	135246709	24	19987											
PCDH15	65217	broad.mit.edu	37	chr10	55591154	55591154	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggccagagccaacaaggcccCttctgtgtatcctagacttt	9	10	9	13	0	1	2	0	0	1	2	2	2	2	2	5	2	2	1	5	2	4	4			TCGA-VP-A878-01A-31D-A34U-08	TCGA-VP-A878-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50c8781c-f2c7-4eb3-beb6-322e4c08e79b	62240b66-a483-4a6a-a55c-06b9734d523a	g.chr10:55591154C>G	ENST00000320301.6	-	30	4517	c.4123G>C	c.(4123-4125)Ggg>Cgg	p.G1375R	PCDH15_ENST00000395430.1_Missense_Mutation_p.G1375R|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000373965.2_Missense_Mutation_p.G1382R|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000409834.1_Missense_Mutation_p.G986R|PCDH15_ENST00000395438.1_Missense_Mutation_p.G1375R|PCDH15_ENST00000361849.3_Missense_Mutation_p.G1375R|PCDH15_ENST00000414778.1_Missense_Mutation_p.G1380R|PCDH15_ENST00000395433.1_Missense_Mutation_p.G1353R|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000437009.1_Missense_Mutation_p.G1304R|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000395432.2_Missense_Mutation_p.G1338R|PCDH15_ENST00000395445.1_Missense_Mutation_p.G1382R	NM_033056.3	NP_149045.3	Q96QU1	PCD15_HUMAN	protocadherin-related 15	1375					equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	calcium ion binding (GO:0005509)			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				AACAAGGCCCCTTCTGTGTAT	0.493										HNSCC(58;0.16)																												ENST00000373965.2																			0				NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237						c.(4144-4146)Ggg>Cgg		protocadherin-related 15							301	255	270					10																	55591154		2203	4300	6503	SO:0001583	missense	65217				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding	g.chr10:55591154C>G	AY029205	CCDS7248.1, CCDS44400.1, CCDS44401.1, CCDS44403.1, CCDS44404.1, CCDS73134.1, CCDS73135.1, CCDS73136.1, CCDS73137.1, CCDS73138.1	10q21.1	2013-01-08	2010-01-25		ENSG00000150275	ENSG00000150275		"Cadherins / Cadherin-related"	14674	protein-coding gene	gene with protein product	"cadherin-related family member 15"	605514	"deafness, autosomal recessive 23", "protocadherin 15"	USH1F, DFNB23		11398101, 14570705	Standard	NM_033056		Approved	CDHR15	uc010qhy.1	Q96QU1	OTTHUMG00000018259	ENST00000320301.6:c.4123G>C	10.37:g.55591154C>G	ENSP00000322604:p.Gly1375Arg	HNSCC(58;0.16)				PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000395433.1_Missense_Mutation_p.G1353R|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000395445.1_Missense_Mutation_p.G1382R|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000320301.6_Missense_Mutation_p.G1375R|PCDH15_ENST00000395432.2_Missense_Mutation_p.G1338R|PCDH15_ENST00000414778.1_Missense_Mutation_p.G1380R|PCDH15_ENST00000395438.1_Missense_Mutation_p.G1375R|PCDH15_ENST00000437009.1_Missense_Mutation_p.G1304R|PCDH15_ENST00000395430.1_Missense_Mutation_p.G1375R|PCDH15_ENST00000361849.3_Missense_Mutation_p.G1375R|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000409834.1_Missense_Mutation_p.G986R|PCDH15_ENST00000463095.1_5'UTR	p.G1382R	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN			31	4538	-		Melanoma(3;0.117)|Lung SC(717;0.238)	1375					A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Missense_Mutation	SNP	ENST00000320301.6	37	c.4144G>C	CCDS7248.1	.	.	.	.	.	.	.	.	.	.	C	29.1	4.981593	0.93044	.	.	ENSG00000150275	ENST00000373965;ENST00000414778;ENST00000455746;ENST00000395438;ENST00000409834;ENST00000395445;ENST00000395432;ENST00000361849;ENST00000395433;ENST00000320301;ENST00000395430;ENST00000417177;ENST00000437009	T;T;T;T;T;T;T;T;T;T;T	0.59083	0.45;0.49;0.44;0.44;0.4;0.33;0.31;0.35;0.31;0.3;0.29	5.75	5.75	0.90469	.	.	.	.	.	T	0.69333	0.3099	L	0.34521	1.04	0.80722	D	1	D;D;D;D;D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D;D;D;D;D	0.97110	0.998;0.999;0.999;0.997;0.999;0.999;1.0;1.0;1.0;1.0;0.999;0.999;0.999	T	0.71069	-0.4699	9	0.72032	D	0.01	.	19.539	0.95267	0.0:1.0:0.0:0.0	.	1353;1375;1375;1380;1304;1338;1375;1375;1382;1382;1375;1380;1375	A2A3E8;E7EMG4;A2A3E7;C9JIG1;E7EM53;E7EMG0;A2A3E6;A2A3E3;C6ZEF5;A2A3E2;C6ZEF7;C9J4F3;Q96QU1	.;.;.;.;.;.;.;.;.;.;.;.;PCD15_HUMAN	R	1382;1380;1375;1375;986;1382;1338;1375;1353;1375;1375;1380;1304	ENSP00000363076:G1382R;ENSP00000410304:G1380R;ENSP00000378826:G1375R;ENSP00000386693:G986R;ENSP00000378832:G1382R;ENSP00000378820:G1338R;ENSP00000354950:G1375R;ENSP00000378821:G1353R;ENSP00000322604:G1375R;ENSP00000378818:G1375R;ENSP00000412628:G1304R	ENSP00000322604:G1375R	G	-	1	0	PCDH15	55261160	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	7.814000	0.86154	2.709000	0.92574	0.585000	0.79938	GGG		0.493	PCDH15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000048121.2	NM_033056		5	82	0	0	0	1	0	5	82					G	55591154	C	G	55591154	3	3	412	1	0	0	0	0	1	0	0	0	11511	681	24	5	3379	5	PCDH15	10	55591154	Missense_Mutation	SNP	C	TCGA-VP-A878-01A-31D-A34U-08	55303116	55591154	79943593	25	19988											
DNTT	1791	broad.mit.edu	37	chr10	98078274	98078274	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gtggaaatgacaggaaaacaCcagcttgttgtaagtgtcat	14	10	11	6	0	1	1	1	1	0	0	1	3	1	3	1	2	2	3	1	2	4	3			TCGA-VP-A878-01A-31D-A34U-08	TCGA-VP-A878-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50c8781c-f2c7-4eb3-beb6-322e4c08e79b	62240b66-a483-4a6a-a55c-06b9734d523a	g.chr10:98078274C>A	ENST00000371174.2	+	2	471	c.369C>A	c.(367-369)caC>caA	p.H123Q	DNTT_ENST00000419175.1_Missense_Mutation_p.H123Q			P04053	TDT_HUMAN	DNA nucleotidylexotransferase	123	BRCT. {ECO:0000255|PROSITE- ProRule:PRU00033}.				DNA modification (GO:0006304)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA nucleotidylexotransferase activity (GO:0003912)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	27		Colorectal(252;0.0815)|all_hematologic(284;0.224)		Epithelial(162;7.97e-08)|all cancers(201;1.89e-06)		CAGGAAAACACCAGCTTGTTG	0.458																																						ENST00000419175.1																			0				NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	27						c.(367-369)caC>caA		DNA nucleotidylexotransferase							110	100	103					10																	98078274		2203	4300	6503	SO:0001583	missense	1791				DNA modification	nucleus	DNA binding|DNA nucleotidylexotransferase activity|DNA-directed DNA polymerase activity|metal ion binding	g.chr10:98078274C>A	AB046378	CCDS7447.1	10q23-q24	2013-05-21	2013-05-21		ENSG00000107447	ENSG00000107447	2.7.7.31	"DNA polymerases"	2983	protein-coding gene	gene with protein product	"Terminal deoxynucleotidyltransferase"	187410	"deoxynucleotidyltransferase, terminal"				Standard	NM_004088		Approved	TDT	uc001kmf.3	P04053	OTTHUMG00000018832	ENST00000371174.2:c.369C>A	10.37:g.98078274C>A	ENSP00000360216:p.His123Gln					DNTT_ENST00000371174.2_Missense_Mutation_p.H123Q	p.H123Q	NM_001017520.1|NM_004088.3	NP_001017520.1|NP_004079.3	P04053	TDT_HUMAN		Epithelial(162;7.97e-08)|all cancers(201;1.89e-06)	2	539	+		Colorectal(252;0.0815)|all_hematologic(284;0.224)	123			BRCT.		Q53FH1|Q5W103|Q96E50	Missense_Mutation	SNP	ENST00000371174.2	37	c.369C>A	CCDS7447.1	.	.	.	.	.	.	.	.	.	.	C	13.24	2.178176	0.38511	.	.	ENSG00000107447	ENST00000419175;ENST00000371174	T;T	0.44482	0.92;0.92	5.62	3.51	0.40186	BRCT (2);	0.214890	0.48767	D	0.000179	T	0.61009	0.2313	M	0.80616	2.505	0.42496	D	0.992915	D;D	0.61697	0.99;0.983	D;D	0.80764	0.994;0.987	T	0.63532	-0.6616	10	0.62326	D	0.03	-7.1656	7.3473	0.26670	0.0:0.7398:0.0:0.2602	.	123;123	P04053-2;P04053	.;TDT_HUMAN	Q	123	ENSP00000401169:H123Q;ENSP00000360216:H123Q	ENSP00000360216:H123Q	H	+	3	2	DNTT	98068264	1.000000	0.71417	0.998000	0.56505	0.109000	0.19521	0.930000	0.28858	1.355000	0.45865	0.563000	0.77884	CAC		0.458	DNTT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049607.1	NM_004088		10	55	1	0	0.00829132	1	0.00848873	10	55					A	98078274	C	A	98078274	3	1	412	1	0	0	0	0	1	0	0	0	4680	506	18	5	375	5	DNTT	10	98078274	Missense_Mutation	SNP	C	TCGA-VP-A878-01A-31D-A34U-08	42487120	98078274	37456473	26	19989											
CHID1	66005	broad.mit.edu	37	chr11	884111	884111	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ggtcatgaggctgaaaccatCcagcacgggggccagctgct	9	6	14	12	1	1	2	1	2	0	0	2	2	2	2	3	4	4	4	3	4	1	0			TCGA-VP-A878-01A-31D-A34U-08	TCGA-VP-A878-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50c8781c-f2c7-4eb3-beb6-322e4c08e79b	62240b66-a483-4a6a-a55c-06b9734d523a	g.chr11:884111C>A	ENST00000449825.1	-	9	1116	c.760G>T	c.(760-762)Gat>Tat	p.D254Y	CHID1_ENST00000323578.8_Missense_Mutation_p.D254Y|CHID1_ENST00000323541.7_Missense_Mutation_p.D284Y|CHID1_ENST00000526714.1_Intron|CHID1_ENST00000429789.2_Missense_Mutation_p.D223Y|CHID1_ENST00000336845.5_Missense_Mutation_p.D279Y|CHID1_ENST00000436108.2_Missense_Mutation_p.D254Y|CHID1_ENST00000454838.2_Missense_Mutation_p.D279Y|CHID1_ENST00000528581.1_Missense_Mutation_p.D279Y	NM_001142675.1	NP_001136147.1	Q9BWS9	CHID1_HUMAN	chitinase domain containing 1	254					carbohydrate metabolic process (GO:0005975)|chitin catabolic process (GO:0006032)|innate immune response (GO:0045087)|negative regulation of cytokine production involved in inflammatory response (GO:1900016)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	chitinase activity (GO:0004568)|oligosaccharide binding (GO:0070492)			endometrium(4)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1)	13		all_cancers(49;9.46e-06)|Breast(177;0.00257)|all_epithelial(84;0.0027)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;5.48e-25)|Epithelial(43;3.75e-24)|BRCA - Breast invasive adenocarcinoma(625;4.65e-05)|Lung(200;0.0624)|LUSC - Lung squamous cell carcinoma(625;0.0735)		CTGAAACCATCCAGCACGGGG	0.597																																					Pancreas(117;992 2327 5172 41921)	ENST00000449825.1																			0				endometrium(4)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1)	13						c.(760-762)Gat>Tat		chitinase domain containing 1							175	125	142					11																	884111		2203	4299	6502	SO:0001583	missense	66005				chitin catabolic process|innate immune response	extracellular region|lysosome	cation binding|chitinase activity	g.chr11:884111C>A	AK124697	CCDS7722.1, CCDS44510.1, CCDS44511.1	11p15.5	2005-10-27			ENSG00000177830	ENSG00000177830			28474	protein-coding gene	gene with protein product		615692					Standard	NM_023947		Approved	MGC3234, FLJ42707	uc001lsm.3	Q9BWS9	OTTHUMG00000133314	ENST00000449825.1:c.760G>T	11.37:g.884111C>A	ENSP00000391255:p.Asp254Tyr					CHID1_ENST00000323578.8_Missense_Mutation_p.D254Y|CHID1_ENST00000526714.1_Intron|CHID1_ENST00000336845.5_Missense_Mutation_p.D279Y|CHID1_ENST00000436108.2_Missense_Mutation_p.D254Y|CHID1_ENST00000454838.2_Missense_Mutation_p.D279Y|CHID1_ENST00000323541.7_Missense_Mutation_p.D284Y|CHID1_ENST00000528581.1_Missense_Mutation_p.D279Y|CHID1_ENST00000429789.2_Missense_Mutation_p.D223Y	p.D254Y	NM_001142675.1	NP_001136147.1	Q9BWS9	CHID1_HUMAN		all cancers(45;5.48e-25)|Epithelial(43;3.75e-24)|BRCA - Breast invasive adenocarcinoma(625;4.65e-05)|Lung(200;0.0624)|LUSC - Lung squamous cell carcinoma(625;0.0735)	9	1116	-		all_cancers(49;9.46e-06)|Breast(177;0.00257)|all_epithelial(84;0.0027)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)	254					B3KWB0|Q8NBM9|Q96CZ3|Q96S93|Q96SK0|Q9BY52	Missense_Mutation	SNP	ENST00000449825.1	37	c.760G>T	CCDS7722.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.985902	0.74589	.	.	ENSG00000177830	ENST00000323541;ENST00000449825;ENST00000454838;ENST00000323578;ENST00000429789;ENST00000528581;ENST00000336845;ENST00000436108;ENST00000531859	T;T;T;T;T;T;T;T;T	0.60299	1.62;1.62;1.62;1.62;1.62;1.62;1.62;1.62;0.2	5.32	5.32	0.75619	Chitinase II (1);Glycoside hydrolase, family 18, catalytic domain (1);Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.045828	0.85682	D	0.000000	T	0.76111	0.3942	M	0.76328	2.33	0.80722	D	1	D;D;D;D;D	0.89917	0.999;0.997;1.0;0.987;0.997	D;P;D;P;P	0.79108	0.916;0.9;0.992;0.679;0.9	T	0.76812	-0.2821	10	0.48119	T	0.1	-20.4115	17.7598	0.88461	0.0:1.0:0.0:0.0	.	315;284;223;279;254	B4DN31;B7Z705;Q9BWS9-3;Q9BWS9-2;Q9BWS9	.;.;.;.;CHID1_HUMAN	Y	284;254;279;254;223;279;279;254;158	ENSP00000324821:D284Y;ENSP00000391255:D254Y;ENSP00000398722:D279Y;ENSP00000325055:D254Y;ENSP00000416034:D223Y;ENSP00000435503:D279Y;ENSP00000338838:D279Y;ENSP00000388156:D254Y;ENSP00000434651:D158Y	ENSP00000324821:D284Y	D	-	1	0	CHID1	874111	1.000000	0.71417	0.999000	0.59377	0.815000	0.46073	6.114000	0.71560	2.493000	0.84123	0.655000	0.94253	GAT		0.597	CHID1-203	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257112.1	NM_023947		12	50	1	0	0.00136819	1	0.00143494	12	50					A	884111	C	A	884111	3	1	412	1	0	0	0	0	1	0	0	0	3345	855	30	5	441	5	CHID1	11	884111	Missense_Mutation	SNP	C	TCGA-VP-A878-01A-31D-A34U-08		884111	134122405	27	19990											
OR5D13	390142	broad.mit.edu	37	chr11	55541365	55541365	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcttctggtggctgggtcctAtacatgggggatagtgtgct	5	14	15	7	0	2	0	0	0	2	0	3	1	3	1	1	5	2	2	1	5	3	4			TCGA-VP-A878-01A-31D-A34U-08	TCGA-VP-A878-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50c8781c-f2c7-4eb3-beb6-322e4c08e79b	62240b66-a483-4a6a-a55c-06b9734d523a	g.chr11:55541365A>T	ENST00000361760.1	+	1	452	c.452A>T	c.(451-453)tAt>tTt	p.Y151F		NM_001001967.1	NP_001001967.1	Q8NGL4	OR5DD_HUMAN	olfactory receptor, family 5, subfamily D, member 13	151						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(20)|ovary(1)|pancreas(2)|skin(2)|stomach(1)|urinary_tract(1)	40		all_epithelial(135;0.196)				GCTGGGTCCTATACATGGGGG	0.423																																						ENST00000361760.1																			0				breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(20)|ovary(1)|pancreas(2)|skin(2)|stomach(1)|urinary_tract(1)	40						c.(451-453)tAt>tTt		olfactory receptor, family 5, subfamily D, member 13							192	191	191					11																	55541365		2200	4296	6496	SO:0001583	missense	390142				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55541365A>T	BK004394	CCDS31507.1	11q11	2012-08-09			ENSG00000198877	ENSG00000198877		"GPCR / Class A : Olfactory receptors"	15280	protein-coding gene	gene with protein product							Standard	NM_001001967		Approved		uc010ril.2	Q8NGL4	OTTHUMG00000166807	ENST00000361760.1:c.452A>T	11.37:g.55541365A>T	ENSP00000354800:p.Tyr151Phe						p.Y151F	NM_001001967.1	NP_001001967.1	Q8NGL4	OR5DD_HUMAN			1	452	+		all_epithelial(135;0.196)	151					Q6IF68|Q6IFC9	Missense_Mutation	SNP	ENST00000361760.1	37	c.452A>T	CCDS31507.1	.	.	.	.	.	.	.	.	.	.	A	12.23	1.876177	0.33162	.	.	ENSG00000198877	ENST00000361760	T	0.37411	1.2	3.3	3.3	0.37823	GPCR, rhodopsin-like superfamily (1);	0.000000	0.31233	U	0.008015	T	0.47154	0.1430	M	0.77820	2.39	0.09310	N	1	P	0.40681	0.727	P	0.50825	0.651	T	0.33599	-0.9862	10	0.45353	T	0.12	-1.1176	6.8313	0.23911	0.8819:0.0:0.1181:0.0	.	151	Q8NGL4	OR5DD_HUMAN	F	151	ENSP00000354800:Y151F	ENSP00000354800:Y151F	Y	+	2	0	OR5D13	55297941	0.000000	0.05858	0.007000	0.13788	0.003000	0.03518	-0.347000	0.07750	1.535000	0.49220	0.398000	0.26397	TAT		0.423	OR5D13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391511.1	NM_001001967		33	140	0	0	0	1	0	33	140					T	55541365	A	T	55541365	3	4	412	1	0	0	0	0	1	0	0	0	11154	449	16	5	454	5	OR5D13	11	55541365	Missense_Mutation	SNP	A	TCGA-VP-A878-01A-31D-A34U-08	54657254	55541365	79465151	28	19991											
OXA1L	5018	broad.mit.edu	37	chr14	23239012	23239012	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ttttccaggtacagtctttgCccgctgcctgatttttcctc	4	17	7	13	1	1	1	0	1	1	0	4	1	3	1	4	1	3	2	4	1	1	6			TCGA-VP-A878-01A-31D-A34U-08	TCGA-VP-A878-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50c8781c-f2c7-4eb3-beb6-322e4c08e79b	62240b66-a483-4a6a-a55c-06b9734d523a	g.chr14:23239012C>T	ENST00000604262.1	+	4	475	c.452C>T	c.(451-453)gCc>gTc	p.A151V	OXA1L_ENST00000285848.5_Missense_Mutation_p.A211V|OXA1L_ENST00000358043.5_Missense_Mutation_p.A135V|OXA1L_ENST00000412791.1_Missense_Mutation_p.A151V			Q15070	OXA1L_HUMAN	oxidase (cytochrome c) assembly 1-like	151					aerobic respiration (GO:0009060)|mitochondrial proton-transporting ATP synthase complex assembly (GO:0033615)|mitochondrial respiratory chain complex I assembly (GO:0032981)|mitochondrial respiratory chain complex I biogenesis (GO:0097031)|negative regulation of ATPase activity (GO:0032780)|negative regulation of oxidoreductase activity (GO:0051354)|oxidation-reduction process (GO:0055114)|protein complex assembly (GO:0006461)|protein insertion into membrane (GO:0051205)|protein tetramerization (GO:0051262)	integral component of mitochondrial membrane (GO:0032592)|mitochondrial membrane (GO:0031966)|mitochondrial respiratory chain (GO:0005746)|mitochondrion (GO:0005739)|protein complex (GO:0043234)	mitochondrial ribosome binding (GO:0097177)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(5)|skin(2)	19	all_cancers(95;8.44e-05)			GBM - Glioblastoma multiforme(265;0.0096)		ACAGTCTTTGCCCGCTGCCTG	0.478																																						ENST00000358043.5																			0				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(5)|skin(2)	19						c.(403-405)gCc>gTc		oxidase (cytochrome c) assembly 1-like							579	563	568					14																	23239012		2203	4300	6503	SO:0001583	missense	5018				aerobic respiration|mitochondrial proton-transporting ATP synthase complex assembly|mitochondrial respiratory chain complex I assembly|negative regulation of ATPase activity|negative regulation of oxidoreductase activity|protein insertion into membrane|protein tetramerization	integral to mitochondrial membrane|mitochondrial respiratory chain|protein complex	protein homodimerization activity|ribosome binding	g.chr14:23239012C>T		CCDS9573.1	14q11.2	2009-05-26			ENSG00000155463	ENSG00000155463			8526	protein-coding gene	gene with protein product		601066				8586451, 19349278	Standard	NM_005015		Approved	MGC133129, OXA1	uc001wgn.2	Q15070	OTTHUMG00000028691	ENST00000604262.1:c.452C>T	14.37:g.23239012C>T	ENSP00000474623:p.Ala151Val					OXA1L_ENST00000285848.5_Missense_Mutation_p.A211V|OXA1L_ENST00000604262.1_Missense_Mutation_p.A151V|OXA1L_ENST00000412791.1_Missense_Mutation_p.A151V	p.A135V			Q15070	OXA1L_HUMAN		GBM - Glioblastoma multiforme(265;0.0096)	4	722	+	all_cancers(95;8.44e-05)		151					B4DPA2	Missense_Mutation	SNP	ENST00000604262.1	37	c.404C>T		.	.	.	.	.	.	.	.	.	.	C	10.27	1.303862	0.23736	.	.	ENSG00000155463	ENST00000285848;ENST00000431881;ENST00000412791;ENST00000358043	T;T;T	0.26518	1.73;1.78;1.78	5.99	5.1	0.69264	.	0.000000	0.85682	D	0.000000	T	0.24774	0.0601	N	0.10629	0.01	0.80722	D	1	P;B;D	0.69078	0.926;0.246;0.997	P;B;D	0.69307	0.762;0.262;0.963	T	0.06058	-1.0848	10	0.02654	T	1	-8.7499	14.367	0.66812	0.0:0.9281:0.0:0.0719	.	151;151;211	E7EVY0;Q15070;Q2M1J6	.;OXA1L_HUMAN;.	V	211;20;151;135	ENSP00000285848:A211V;ENSP00000387601:A151V;ENSP00000350740:A135V	ENSP00000285848:A211V	A	+	2	0	OXA1L	22308852	1.000000	0.71417	1.000000	0.80357	0.923000	0.55619	4.694000	0.61760	1.540000	0.49301	0.655000	0.94253	GCC		0.478	OXA1L-012	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000468876.1	NM_005015		5	338	0	0	0	1	0	5	338					T	23239012	C	T	23239012	3	4	412	1	0	0	0	0	1	0	0	0	11328	739	26	3	646	3	OXA1L	14	23239012	Missense_Mutation	SNP	C	TCGA-VP-A878-01A-31D-A34U-08		23239012	84110528	29	19992											
PKD1	5310	broad.mit.edu	37	chr16	2161025	2161025	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctggctgcagggtgacgttGcccacctctggctccacgca	5	9	12	15	2	2	1	0	1	2	0	3	1	3	1	3	3	2	5	3	3	0	1			TCGA-VP-A878-01A-31D-A34U-08	TCGA-VP-A878-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50c8781c-f2c7-4eb3-beb6-322e4c08e79b	62240b66-a483-4a6a-a55c-06b9734d523a	g.chr16:2161025G>A	ENST00000262304.4	-	15	4351	c.4143C>T	c.(4141-4143)ggC>ggT	p.G1381G	RP11-304L19.4_ENST00000568795.1_RNA|PKD1_ENST00000423118.1_Silent_p.G1381G	NM_001009944.2	NP_001009944	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	1381	PKD 8. {ECO:0000255|PROSITE- ProRule:PRU00151}.				anatomical structure morphogenesis (GO:0009653)|branching morphogenesis of an epithelial tube (GO:0048754)|calcium ion transmembrane transport (GO:0070588)|calcium-independent cell-matrix adhesion (GO:0007161)|cartilage condensation (GO:0001502)|cartilage development (GO:0051216)|cation transmembrane transport (GO:0098655)|cell cycle arrest (GO:0007050)|cell-matrix adhesion (GO:0007160)|cytoplasmic sequestering of transcription factor (GO:0042994)|detection of mechanical stimulus (GO:0050982)|digestive tract development (GO:0048565)|embryonic placenta development (GO:0001892)|genitalia development (GO:0048806)|heart development (GO:0007507)|homophilic cell adhesion (GO:0007156)|in utero embryonic development (GO:0001701)|JAK-STAT cascade (GO:0007259)|kidney development (GO:0001822)|liver development (GO:0001889)|lung epithelium development (GO:0060428)|mesonephric duct development (GO:0072177)|mesonephric tubule development (GO:0072164)|metanephric ascending thin limb development (GO:0072218)|metanephric collecting duct development (GO:0072205)|metanephric distal tubule morphogenesis (GO:0072287)|metanephric proximal tubule development (GO:0072237)|neural tube development (GO:0021915)|neuropeptide signaling pathway (GO:0007218)|nitrogen compound metabolic process (GO:0006807)|peptidyl-serine phosphorylation (GO:0018105)|placenta blood vessel development (GO:0060674)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of protein binding (GO:0032092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein export from nucleus (GO:0006611)|regulation of mitotic spindle organization (GO:0060236)|regulation of proteasomal protein catabolic process (GO:0061136)|response to fluid shear stress (GO:0034405)|skin development (GO:0043588)|spinal cord development (GO:0021510)	basolateral plasma membrane (GO:0016323)|cilium (GO:0005929)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|motile primary cilium (GO:0031512)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|polycystin complex (GO:0002133)	calcium channel activity (GO:0005262)|carbohydrate binding (GO:0030246)|cation channel activity (GO:0005261)|ion channel binding (GO:0044325)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						GGGTGACGTTGCCCACCTCTG	0.667																																						ENST00000262304.4																			0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						c.(4141-4143)ggC>ggT		polycystic kidney disease 1 (autosomal dominant)							33	35	34					16																	2161025		2190	4290	6480	SO:0001819	synonymous_variant	5310				calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding	g.chr16:2161025G>A	L33243	CCDS32369.1, CCDS45385.1	16p13.3	2014-01-28			ENSG00000008710	ENSG00000008710		"Voltage-gated ion channels / Transient receptor potential cation channels"	9008	protein-coding gene	gene with protein product	"polycystin 1", "transient receptor potential cation channel, subfamily P, member 1"	601313					Standard	NM_001009944		Approved	PBP, Pc-1, TRPP1	uc002cos.1	P98161	OTTHUMG00000155795	ENST00000262304.4:c.4143C>T	16.37:g.2161025G>A						PKD1_ENST00000423118.1_Silent_p.G1381G	p.G1381G	NM_001009944.2	NP_001009944.2	P98161	PKD1_HUMAN			15	4351	-			1381			PKD 8.		Q15140|Q15141	Silent	SNP	ENST00000262304.4	37	c.4143C>T	CCDS32369.1																																																																																				0.667	PKD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341688.1			9	49	0	0	0	1	0	9	49					A	2161025	G	A	2161025	2	1	412	1	0	0	0	0	0	0	0	1	11963	1306	46	3		3	PKD1	16	2161025	Silent	SNP	G	TCGA-VP-A878-01A-31D-A34U-08		2161025	88193728	30	19993											
MYH8	4626	broad.mit.edu	37	chr17	10302114	10302114	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttcctctagttgatgtttcaGctcttcaatctgctgagtag	7	17	8	9	0	5	2	2	2	3	0	6	2	6	2	1	0	2	5	1	0	3	6			TCGA-VP-A878-01A-31D-A34U-08	TCGA-VP-A878-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50c8781c-f2c7-4eb3-beb6-322e4c08e79b	62240b66-a483-4a6a-a55c-06b9734d523a	g.chr17:10302114G>C	ENST00000403437.2	-	29	4046	c.3952C>G	c.(3952-3954)Ctg>Gtg	p.L1318V	RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA|CTC-297N7.11_ENST00000587182.2_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	1318					ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|skeletal muscle contraction (GO:0003009)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|myosin light chain binding (GO:0032027)|structural constituent of muscle (GO:0008307)			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						TGATGTTTCAGCTCTTCAATC	0.393									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling																													ENST00000403437.2																			0				NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						c.(3952-3954)Ctg>Gtg		myosin, heavy chain 8, skeletal muscle, perinatal							92	84	87					17																	10302114		2203	4300	6503	SO:0001583	missense	4626	Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling	Familial Cancer Database	Carney Complex Variant	muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle	g.chr17:10302114G>C		CCDS11153.1	17p13.1	2013-09-19	2006-09-29		ENSG00000133020	ENSG00000133020		"Myosins / Myosin superfamily : Class II"	7578	protein-coding gene	gene with protein product		160741	"myosin, heavy polypeptide 8, skeletal muscle, perinatal"			2373371	Standard	NM_002472		Approved	MyHC-peri, MyHC-pn	uc002gmm.2	P13535	OTTHUMG00000130361	ENST00000403437.2:c.3952C>G	17.37:g.10302114G>C	ENSP00000384330:p.Leu1318Val					CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA	p.L1318V	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN			29	4046	-			1318					Q14910	Missense_Mutation	SNP	ENST00000403437.2	37	c.3952C>G	CCDS11153.1	.	.	.	.	.	.	.	.	.	.	G	18.59	3.656016	0.67586	.	.	ENSG00000133020	ENST00000252173;ENST00000403437	T	0.79940	-1.32	5.28	4.3	0.51218	Myosin tail (1);	0.000000	0.33496	U	0.004841	D	0.83580	0.5285	M	0.85777	2.775	0.45415	D	0.998395	B	0.27380	0.177	B	0.37451	0.25	D	0.83499	0.0074	10	0.66056	D	0.02	.	9.7373	0.40395	0.0723:0.0:0.7857:0.142	.	1318	P13535	MYH8_HUMAN	V	1318	ENSP00000384330:L1318V	ENSP00000252173:L1318V	L	-	1	2	MYH8	10242839	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.819000	0.55686	1.426000	0.47256	0.655000	0.94253	CTG		0.393	MYH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252724.2	NM_002472		13	56	0	0	0	1	0	13	56					C	10302114	G	C	10302114	3	2	412	1	0	0	0	0	1	0	0	0	10041	962	34	5	1909	5	MYH8	17	10302114	Missense_Mutation	SNP	G	TCGA-VP-A878-01A-31D-A34U-08		10302114	70893096	31	19994											
DNAH9	1770	broad.mit.edu	37	chr17	11522871	11522871	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgtttgtataccaggcctctAattatctcagcccagaagac	11	12	7	11	0	2	2	1	0	2	2	3	2	2	2	3	1	2	2	3	1	5	5			TCGA-VP-A878-01A-31D-A34U-08	TCGA-VP-A878-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50c8781c-f2c7-4eb3-beb6-322e4c08e79b	62240b66-a483-4a6a-a55c-06b9734d523a	g.chr17:11522871A>G	ENST00000262442.4	+	6	1191	c.1123A>G	c.(1123-1125)Aat>Gat	p.N375D	DNAH9_ENST00000454412.2_Missense_Mutation_p.N375D	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	375	Stem. {ECO:0000250}.				cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		CCAGGCCTCTAATTATCTCAG	0.433																																						ENST00000262442.3																			0				NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290						c.(1123-1125)Aat>Gat		dynein, axonemal, heavy chain 9							101	103	102					17																	11522871		2203	4300	6503	SO:0001583	missense	1770				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:11522871A>G	U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"Axonemal dyneins"	2953	protein-coding gene	gene with protein product		603330	"dynein, axonemal, heavy polypeptide 17-like", "dynein, axonemal, heavy polypeptide 9"	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.1123A>G	17.37:g.11522871A>G	ENSP00000262442:p.Asn375Asp					DNAH9_ENST00000454412.2_Missense_Mutation_p.N375D|DNAH9_ENST00000579406.1_3'UTR	p.N375D	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)	6	1191	+		Breast(5;0.0122)|all_epithelial(5;0.131)	375			Stem (By similarity).		A2VCQ8|O15064|O95494|Q9NQ28	Missense_Mutation	SNP	ENST00000262442.4	37	c.1123A>G	CCDS11160.1	.	.	.	.	.	.	.	.	.	.	A	5.947	0.358719	0.11239	.	.	ENSG00000007174	ENST00000262442;ENST00000454412	T;T	0.55413	0.52;0.52	5.95	-1.68	0.08212	Dynein heavy chain, domain-1 (1);	1.374330	0.04356	N	0.356524	T	0.44623	0.1302	L	0.49126	1.545	0.09310	N	1	B	0.31705	0.336	B	0.32022	0.139	T	0.21759	-1.0236	10	0.13108	T	0.6	.	9.2666	0.37645	0.5266:0.0985:0.3749:0.0	.	375	Q9NYC9	DYH9_HUMAN	D	375	ENSP00000262442:N375D;ENSP00000414874:N375D	ENSP00000262442:N375D	N	+	1	0	DNAH9	11463596	0.000000	0.05858	0.006000	0.13384	0.326000	0.28443	-0.002000	0.12924	-0.696000	0.05098	-1.256000	0.01477	AAT		0.433	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2	NM_001372		18	81	0	0	0	1	0	18	81					G	11522871	A	G	11522871	3	3	412	1	0	0	0	0	1	0	0	0	4608	362	13	4	1145	4	DNAH9	17	11522871	Missense_Mutation	SNP	A	TCGA-VP-A878-01A-31D-A34U-08	1220757	11522871	69672339	32	19995											
ATPAF2	91647	broad.mit.edu	37	chr17	17921927	17921927	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	agagatggatgaagagggtgCcggcggcggtgcgggcccgc	7	4	21	9	5	0	3	0	1	0	2	0	5	0	4	2	6	2	0	2	6	1	0			TCGA-VP-A878-01A-31D-A34U-08	TCGA-VP-A878-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50c8781c-f2c7-4eb3-beb6-322e4c08e79b	62240b66-a483-4a6a-a55c-06b9734d523a	g.chr17:17921927C>T	ENST00000474627.3	-	8	960	c.806G>A	c.(805-807)gGc>gAc	p.G269D	ATPAF2_ENST00000469327.1_5'Flank|ATPAF2_ENST00000585101.1_Intron	NM_145691.3	NP_663729.1	Q8N5M1	ATPF2_HUMAN	ATP synthase mitochondrial F1 complex assembly factor 2	269					proton-transporting ATP synthase complex assembly (GO:0043461)	mitochondrion (GO:0005739)|nuclear speck (GO:0016607)				breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|urinary_tract(1)	8	all_neural(463;0.228)					GAAGAGGGTGCCGGCGGCGGT	0.602																																						ENST00000474627.3																			0				breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|urinary_tract(1)	8						c.(805-807)gGc>gAc		ATP synthase mitochondrial F1 complex assembly factor 2							91	97	95					17																	17921927		2203	4300	6503	SO:0001583	missense	91647				proton-transporting ATP synthase complex assembly	mitochondrion|nuclear speck	protein binding	g.chr17:17921927C>T	AF052185	CCDS32585.1	17p11.2	2012-10-12			ENSG00000171953	ENSG00000171953		"Mitochondrial respiratory chain complex assembly factors"	18802	protein-coding gene	gene with protein product		608918				11410595, 11997338	Standard	NM_145691		Approved	Atp12p, ATP12, LP3663, MGC29736	uc002gse.1	Q8N5M1	OTTHUMG00000059354	ENST00000474627.3:c.806G>A	17.37:g.17921927C>T	ENSP00000417190:p.Gly269Asp					ATPAF2_ENST00000585101.1_Intron	p.G269D	NM_145691.3	NP_663729.1	Q8N5M1	ATPF2_HUMAN			8	960	-	all_neural(463;0.228)		269					A6NDE5|A8K2J2|Q6XYC7	Missense_Mutation	SNP	ENST00000474627.3	37	c.806G>A	CCDS32585.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.068134	0.76301	.	.	ENSG00000171953	ENST00000474627	T	0.76709	-1.04	5.16	5.16	0.70880	ATPase assembly, ATP12, domain (1);	0.045003	0.85682	D	0.000000	D	0.83741	0.5320	M	0.78637	2.42	0.80722	D	1	D	0.57899	0.981	P	0.52109	0.69	D	0.86374	0.1725	10	0.72032	D	0.01	0.0413	15.0653	0.71989	0.0:0.8577:0.1423:0.0	.	269	Q8N5M1	ATPF2_HUMAN	D	269	ENSP00000417190:G269D	ENSP00000417190:G269D	G	-	2	0	ATPAF2	17862652	1.000000	0.71417	0.060000	0.19600	0.550000	0.35303	5.948000	0.70249	2.404000	0.81709	0.561000	0.74099	GGC		0.602	ATPAF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131934.3	NM_145691		19	77	0	0	0	1	0	19	77					T	17921927	C	T	17921927	3	4	412	1	0	0	0	0	1	0	0	0	1201	739	26	3	67	3	ATPAF2	17	17921927	Missense_Mutation	SNP	C	TCGA-VP-A878-01A-31D-A34U-08	6399056	17921927	63273283	33	19996											
SPOP	8405	broad.mit.edu	37	chr17	47699392	47699392	+	Frame_Shift_Del	DEL	T	T	-																															cccggcaaaagctaaagttaTtgatggtccacatgtaggag																								rs201537546		TCGA-VP-A878-01A-31D-A34U-08	TCGA-VP-A878-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50c8781c-f2c7-4eb3-beb6-322e4c08e79b	62240b66-a483-4a6a-a55c-06b9734d523a	g.chr17:47699392delT	ENST00000393328.2	-	4	481	c.116delA	c.(115-117)aatfs	p.N40fs	SPOP_ENST00000393331.3_Frame_Shift_Del_p.N40fs|SPOP_ENST00000503676.1_Frame_Shift_Del_p.N40fs|SPOP_ENST00000504102.1_Frame_Shift_Del_p.N40fs|SPOP_ENST00000513080.1_5'UTR|SPOP_ENST00000347630.2_Frame_Shift_Del_p.N40fs	NM_003563.3	NP_003554.1	O43791	SPOP_HUMAN	speckle-type POZ protein	40	MATH. {ECO:0000255|PROSITE- ProRule:PRU00129}.				glucose homeostasis (GO:0042593)|positive regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902237)|positive regulation of type B pancreatic cell apoptotic process (GO:2000676)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	Cul3-RING ubiquitin ligase complex (GO:0031463)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	ubiquitin protein ligase binding (GO:0031625)			endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						GCTAAAGTTATTGATGGTCCA	0.368										Prostate(2;0.17)																												ENST00000393331.3																			0				endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						c.(115-117)atfs		speckle-type POZ protein							62	58	60					17																	47699392		2203	4300	6503	SO:0001589	frameshift_variant	8405				mRNA processing	nucleus	protein binding	g.chr17:47699392delT	AJ000644	CCDS11551.1	17q21.33	2013-01-09			ENSG00000121067	ENSG00000121067		"BTB/POZ domain containing"	11254	protein-coding gene	gene with protein product		602650				9414087	Standard	NM_001007227		Approved	TEF2, BTBD32	uc002ipg.3	O43791	OTTHUMG00000161496	ENST00000393328.2:c.116delA	17.37:g.47699392delT	ENSP00000377001:p.Asn40fs	Prostate(2;0.17)				SPOP_ENST00000504102.1_Frame_Shift_Del_p.N40fs|SPOP_ENST00000503676.1_Frame_Shift_Del_p.N40fs|SPOP_ENST00000347630.2_Frame_Shift_Del_p.N40fs|SPOP_ENST00000393328.2_Frame_Shift_Del_p.N40fs|SPOP_ENST00000513080.1_5'UTR	p.N40fs	NM_001007226.1|NM_001007227.1	NP_001007227.1|NP_001007228.1	O43791	SPOP_HUMAN			5	586	-			40			MATH.		B2R6S3|D3DTW7|Q53HJ1	Frame_Shift_Del	DEL	ENST00000393328.2	37	c.116delA	CCDS11551.1																																																																																				0.368	SPOP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365154.2	NM_003563		22	61						22	61	---	---	---	---	-	47699392	T	-	47699392	7	5	412	1	0	1	0	1	0	0	0	0	15083	1493	52	0	1040	0	SPOP	17	47699392	Frame_Shift_Del	DEL	T	TCGA-VP-A878-01A-31D-A34U-08	29777465	47699392	33495818	34	19997											
ZNF70	7621	broad.mit.edu	37	chr22	24086389	24086389	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctctggctgaaggccttcccGcactcatcgcatttgtatgg	6	12	10	13	2	2	1	1	1	1	0	4	1	3	1	2	3	0	4	2	3	2	3	rs372898022		TCGA-VP-A878-01A-31D-A34U-08	TCGA-VP-A878-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50c8781c-f2c7-4eb3-beb6-322e4c08e79b	62240b66-a483-4a6a-a55c-06b9734d523a	g.chr22:24086389G>A	ENST00000341976.3	-	2	1399	c.939C>T	c.(937-939)tgC>tgT	p.C313C		NM_021916.2	NP_068735.1	Q9UC06	ZNF70_HUMAN	zinc finger protein 70	313					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|urinary_tract(1)	21						AGGCCTTCCCGCACTCATCGC	0.552																																						ENST00000341976.3																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|urinary_tract(1)	21						c.(937-939)tgC>tgT		zinc finger protein 70		G		0,4406		0,0,2203	129	112	118		939	-6.9	0.7	22		118	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	ZNF70	NM_021916.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		313/447	24086389	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	7621					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr22:24086389G>A	X60077	CCDS13812.1	22q11.23	2013-01-08	2006-05-12		ENSG00000187792	ENSG00000187792		"Zinc fingers, C2H2-type"	13140	protein-coding gene	gene with protein product		194544	"zinc finger protein 70 (Cos17)"			1639391	Standard	NM_021916		Approved	Cos17, MGC48959	uc002zxs.3	Q9UC06	OTTHUMG00000150739	ENST00000341976.3:c.939C>T	22.37:g.24086389G>A							p.C313C	NM_021916.2	NP_068735.1	Q9UC06	ZNF70_HUMAN			2	1399	-			313						Silent	SNP	ENST00000341976.3	37	c.939C>T	CCDS13812.1																																																																																				0.552	ZNF70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319881.1	NM_021916		15	59	0	0	0	1	0	15	59					A	24086389	G	A	24086389	2	1	412	1	0	0	0	0	0	0	0	1	18100	1079	38	1		1	ZNF70	22	24086389	Silent	SNP	G	TCGA-VP-A878-01A-31D-A34U-08		24086389	27218177	35	19998											
ARSF	416	broad.mit.edu	37	chrX	3002434	3002434	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taacacggaattagcctttgAgagtcagctctggctctgtg	9	12	11	9	1	3	1	1	1	2	1	3	3	3	2	1	2	3	2	1	2	3	3			TCGA-VP-A878-01A-31D-A34U-08	TCGA-VP-A878-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50c8781c-f2c7-4eb3-beb6-322e4c08e79b	62240b66-a483-4a6a-a55c-06b9734d523a	g.chrX:3002434A>G	ENST00000381127.1	+	6	778	c.557A>G	c.(556-558)gAg>gGg	p.E186G	ARSF_ENST00000359361.2_Missense_Mutation_p.E186G|ARSF_ENST00000537104.1_Missense_Mutation_p.E186G	NM_001201538.1|NM_001201539.1	NP_001188467.1|NP_001188468.1	P54793	ARSF_HUMAN	arylsulfatase F	186					cellular protein metabolic process (GO:0044267)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	38		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				TTAGCCTTTGAGAGTCAGCTC	0.532																																						ENST00000381127.1																			0				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	38						c.(556-558)gAg>gGg		arylsulfatase F							147	111	123					X																	3002434		2203	4300	6503	SO:0001583	missense	416					extracellular region	arylsulfatase activity|metal ion binding	g.chrX:3002434A>G	X97868	CCDS14123.1	Xp22.3	2013-02-14			ENSG00000062096	ENSG00000062096		"Arylsulfatase family"	721	protein-coding gene	gene with protein product		300003				7720070	Standard	NM_004042		Approved		uc022brz.1	P54793	OTTHUMG00000021081	ENST00000381127.1:c.557A>G	X.37:g.3002434A>G	ENSP00000370519:p.Glu186Gly					ARSF_ENST00000537104.1_Missense_Mutation_p.E186G|ARSF_ENST00000359361.2_Missense_Mutation_p.E186G	p.E186G	NM_001201538.1|NM_001201539.1	NP_001188467.1|NP_001188468.1	P54793	ARSF_HUMAN			6	778	+		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)	186					Q8TCC5	Missense_Mutation	SNP	ENST00000381127.1	37	c.557A>G	CCDS14123.1	.	.	.	.	.	.	.	.	.	.	A	8.019	0.759188	0.15846	.	.	ENSG00000062096	ENST00000381127;ENST00000537104;ENST00000359361	D;D;D	0.98493	-4.96;-4.96;-4.96	3.44	-6.89	0.01660	Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	1.668100	0.03508	N	0.219088	D	0.94801	0.8321	L	0.49778	1.585	0.09310	N	1	B	0.06786	0.001	B	0.15052	0.012	D	0.88046	0.2784	10	0.23302	T	0.38	.	1.9259	0.03317	0.5055:0.1973:0.1022:0.1951	.	186	P54793	ARSF_HUMAN	G	186	ENSP00000370519:E186G;ENSP00000445594:E186G;ENSP00000352319:E186G	ENSP00000352319:E186G	E	+	2	0	ARSF	3012434	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-2.831000	0.00743	-2.018000	0.00943	-0.382000	0.06688	GAG		0.532	ARSF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055652.1			5	34	0	0	0	1	0	5	34					G	3002434	A	G	3002434	3	3	412	1	0	0	0	0	1	0	0	0	991	304	11	4	575	4	ARSF	23	3002434	Missense_Mutation	SNP	A	TCGA-VP-A878-01A-31D-A34U-08		3002434	152268126	36	19999											
ATRX	546	broad.mit.edu	37	chrX	76855227	76855227	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taatcatcggagcttaaactCatggaggtttcatcagaatc	13	12	8	8	1	4	1	4	0	0	1	6	3	4	3	0	3	2	2	0	3	4	3			TCGA-VP-A878-01A-31D-A34U-08	TCGA-VP-A878-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50c8781c-f2c7-4eb3-beb6-322e4c08e79b	62240b66-a483-4a6a-a55c-06b9734d523a	g.chrX:76855227C>A	ENST00000373344.5	-	24	5974	c.5760G>T	c.(5758-5760)atG>atT	p.M1920I	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Missense_Mutation_p.M1882I	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1920					ATP catabolic process (GO:0006200)|cellular response to hydroxyurea (GO:0072711)|chromatin remodeling (GO:0006338)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA methylation (GO:0006306)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication-independent nucleosome assembly (GO:0006336)|forebrain development (GO:0030900)|negative regulation of telomeric RNA transcription from RNA pol II promoter (GO:1901581)|nucleosome assembly (GO:0006334)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|replication fork processing (GO:0031297)|seminiferous tubule development (GO:0072520)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear heterochromatin (GO:0005720)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF superfamily-type complex (GO:0070603)|telomeric heterochromatin (GO:0031933)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|helicase activity (GO:0004386)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						AGCTTAAACTCATGGAGGTTT	0.328			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome																															ENST00000373344.5				Rec	yes		X	Xq21.1	546	"Mis, F, N"	alpha thalassemia/mental retardation syndrome X-linked	yes	ATR-X (alpha thalassemia/mental retardation) syndrome	E			"Pancreatic neuroendocrine tumors, paediatric GBM"		1	Unknown(1)	p.?(1)	bone(1)	bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						c.(5758-5760)atG>atT		alpha thalassemia/mental retardation syndrome X-linked	Phosphatidylserine(DB00144)						65	61	62					X																	76855227		2203	4296	6499	SO:0001583	missense	546				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	g.chrX:76855227C>A	U72937	CCDS14434.1, CCDS14435.1	Xq21.1	2014-06-17	2010-06-24		ENSG00000085224	ENSG00000085224			886	protein-coding gene	gene with protein product	"RAD54 homolog (S. cerevisiae)"	300032	"alpha thalassemia/mental retardation syndrome X-linked (RAD54 (S. cerevisiae) homolog)", "Juberg-Marsidi syndrome"	RAD54, JMS		7874112, 1415255, 8503439, 8630485	Standard	NM_000489		Approved	XH2, XNP	uc004ecp.4	P46100	OTTHUMG00000022686	ENST00000373344.5:c.5760G>T	X.37:g.76855227C>A	ENSP00000362441:p.Met1920Ile					ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Missense_Mutation_p.M1882I	p.M1920I	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN			24	5974	-			1920					D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Missense_Mutation	SNP	ENST00000373344.5	37	c.5760G>T	CCDS14434.1	.	.	.	.	.	.	.	.	.	.	C	14.71	2.616721	0.46736	.	.	ENSG00000085224	ENST00000373344;ENST00000395603	D;D	0.92048	-2.95;-2.96	5.34	5.34	0.76211	.	0.052089	0.64402	U	0.000001	D	0.88269	0.6391	L	0.38175	1.15	0.80722	D	1	B;B	0.31548	0.328;0.049	B;B	0.27170	0.077;0.026	D	0.86476	0.1788	10	0.40728	T	0.16	-2.632	18.3055	0.90179	0.0:1.0:0.0:0.0	.	1882;1920	P46100-4;P46100	.;ATRX_HUMAN	I	1920;1882	ENSP00000362441:M1920I;ENSP00000378967:M1882I	ENSP00000362441:M1920I	M	-	3	0	ATRX	76741883	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.670000	0.68088	2.348000	0.79779	0.594000	0.82650	ATG		0.328	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489		11	15	1	0	1.58986e-06	1	1.79906e-06	11	15					A	76855227	C	A	76855227	3	1	412	1	0	0	0	0	1	0	0	0	1208	826	29	5	1766	5	ATRX	23	76855227	Missense_Mutation	SNP	C	TCGA-VP-A878-01A-31D-A34U-08	73852793	76855227	78415333	37	20000											
C1QC	714	broad.mit.edu	37	chr1	22973820	22973820	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ggccccatgggaccccctggGatgccaggggtgcccggccc	4	4	16	17	1	0	0	0	0	0	0	0	2	0	2	7	6	2	0	7	6	0	0			TCGA-VP-A879-01A-11D-A34U-08	TCGA-VP-A879-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff201859-353a-48ec-80f0-4efbd0274515	d19f8f3a-2084-4991-b2d4-e42c6747adc5	g.chr1:22973820G>A	ENST00000374639.3	+	3	400	c.282G>A	c.(280-282)ggG>ggA	p.G94G	C1QC_ENST00000374637.1_Silent_p.G94G|C1QC_ENST00000374640.4_Silent_p.G94G	NM_001114101.1	NP_001107573.1	P02747	C1QC_HUMAN	complement component 1, q subcomponent, C chain	94	Collagen-like.				complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|immune response (GO:0006955)|innate immune response (GO:0045087)|negative regulation of granulocyte differentiation (GO:0030853)|negative regulation of macrophage differentiation (GO:0045650)	blood microparticle (GO:0072562)|collagen trimer (GO:0005581)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	15		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;6.21e-27)|Colorectal(126;1.5e-07)|COAD - Colon adenocarcinoma(152;1.12e-05)|GBM - Glioblastoma multiforme(114;1.61e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000538)|KIRC - Kidney renal clear cell carcinoma(1967;0.00269)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.196)	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	GACCCCCTGGGATGCCAGGGG	0.627																																					Ovarian(26;671 750 8290 29071 43278)	ENST00000374639.3																			0				endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	15						c.(280-282)ggG>ggA		complement component 1, q subcomponent, C chain	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)						35	41	39					1																	22973820		2203	4300	6503	SO:0001819	synonymous_variant	714				complement activation, classical pathway|innate immune response|negative regulation of granulocyte differentiation|negative regulation of macrophage differentiation	collagen		g.chr1:22973820G>A	AK057792	CCDS227.1	1p36.11	2014-09-17	2006-02-09	2006-02-09	ENSG00000159189	ENSG00000159189		"Complement system"	1245	protein-coding gene	gene with protein product		120575	"complement component 1, q subcomponent, gamma polypeptide"	C1QG		1706597	Standard	NM_001114101		Approved		uc001bga.4	P02747	OTTHUMG00000002891	ENST00000374639.3:c.282G>A	1.37:g.22973820G>A						C1QC_ENST00000374637.1_Silent_p.G94G|C1QC_ENST00000374640.4_Silent_p.G94G	p.G94G	NM_001114101.1	NP_001107573.1	P02747	C1QC_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;6.21e-27)|Colorectal(126;1.5e-07)|COAD - Colon adenocarcinoma(152;1.12e-05)|GBM - Glioblastoma multiforme(114;1.61e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000538)|KIRC - Kidney renal clear cell carcinoma(1967;0.00269)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.196)	3	400	+		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)	94			Collagen-like.		Q7Z502|Q96DL2|Q96H05	Silent	SNP	ENST00000374639.3	37	c.282G>A	CCDS227.1																																																																																				0.627	C1QC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008083.1	NM_172369		11	40	0	0	0	1	0	11	40					A	22973820	G	A	22973820	2	1	413	1	0	0	0	0	0	0	0	1	1957	1161	41	3		3	C1QC	1	22973820	Silent	SNP	G	TCGA-VP-A879-01A-11D-A34U-08		22973820	226276801	1	20001											
ASAP3	55616	broad.mit.edu	37	chr1	23782631	23782631	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ttaccaaggccggagctatgGattgcccgcacagccttctt	8	10	10	13	2	1	0	0	0	1	0	1	2	1	2	4	3	4	2	4	3	3	5			TCGA-VP-A879-01A-11D-A34U-08	TCGA-VP-A879-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff201859-353a-48ec-80f0-4efbd0274515	d19f8f3a-2084-4991-b2d4-e42c6747adc5	g.chr1:23782631G>A	ENST00000336689.3	-	2	230	c.186C>T	c.(184-186)atC>atT	p.I62I	ASAP3_ENST00000437606.2_Silent_p.I62I|ASAP3_ENST00000449467.2_5'UTR	NM_017707.3	NP_060177.2	Q8TDY4	ASAP3_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 3	62					cell migration (GO:0016477)|positive regulation of ARF GTPase activity (GO:0032850)|regulation of stress fiber assembly (GO:0051492)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|ruffle (GO:0001726)	ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|ovary(1)|skin(2)|urinary_tract(1)	24						CGGAGCTATGGATTGCCCGCA	0.587																																						ENST00000336689.3																			0				NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|ovary(1)|skin(2)|urinary_tract(1)	24						c.(184-186)atC>atT		ArfGAP with SH3 domain, ankyrin repeat and PH domain 3							103	101	102					1																	23782631		2203	4300	6503	SO:0001819	synonymous_variant	55616				regulation of ARF GTPase activity	cytoplasm	ARF GTPase activator activity|zinc ion binding	g.chr1:23782631G>A	AK000206	CCDS235.1, CCDS44087.1	1p36.13	2013-01-10	2008-10-09	2008-09-22	ENSG00000088280	ENSG00000088280		"ADP-ribosylation factor GTPase activating proteins", "Pleckstrin homology (PH) domain containing", "Ankyrin repeat domain containing"	14987	protein-coding gene	gene with protein product	"centaurin, beta 6"		"development and differentiation enhancing factor-like 1"	DDEFL1		14654939	Standard	NM_017707		Approved	FLJ20199, UPLC1, CENTB6	uc001bha.2	Q8TDY4	OTTHUMG00000003234	ENST00000336689.3:c.186C>T	1.37:g.23782631G>A						ASAP3_ENST00000437606.2_Silent_p.I62I	p.I62I	NM_017707.3	NP_060177.2	Q8TDY4	ASAP3_HUMAN			2	230	-			62					B3KRW0|B4DHH4|Q6P9F4|Q86UY1|Q9NXK2	Silent	SNP	ENST00000336689.3	37	c.186C>T	CCDS235.1																																																																																				0.587	ASAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008916.2	NM_017707		9	28	0	0	0	1	0	9	28					A	23782631	G	A	23782631	2	1	413	1	0	0	0	0	0	0	0	1	1012	1164	41	3		3	ASAP3	1	23782631	Silent	SNP	G	TCGA-VP-A879-01A-11D-A34U-08	808811	23782631	225467990	2	20002											
SLAMF6	114836	broad.mit.edu	37	chr1	160460930	160460930	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gttaccttcgcaaagcttctGggcagagacagagaaggata	13	8	12	8	1	1	2	0	0	1	2	2	5	1	3	1	2	2	4	1	2	4	4			TCGA-VP-A879-01A-11D-A34U-08	TCGA-VP-A879-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff201859-353a-48ec-80f0-4efbd0274515	d19f8f3a-2084-4991-b2d4-e42c6747adc5	g.chr1:160460930G>T	ENST00000368057.3	-	3	691	c.631C>A	c.(631-633)Cag>Aag	p.Q211K	SLAMF6_ENST00000368055.1_Missense_Mutation_p.Q100K|SLAMF6_ENST00000368059.3_Missense_Mutation_p.Q211K			Q96DU3	SLAF6_HUMAN	SLAM family member 6	211						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|skin(4)	22	all_cancers(52;1.05e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0923)			CAAAGCTTCTGGGCAGAGACA	0.498																																						ENST00000368059.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|skin(4)	22						c.(631-633)Cag>Aag		SLAM family member 6							82	83	83					1																	160460930		2203	4300	6503	SO:0001583	missense	114836					integral to membrane|plasma membrane	receptor activity	g.chr1:160460930G>T	AL832854	CCDS1205.1, CCDS53393.1, CCDS53394.1	1q23.1	2013-01-29			ENSG00000162739	ENSG00000162739		"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	21392	protein-coding gene	gene with protein product		606446				11489943	Standard	NM_052931		Approved	KALI, NTBA, KALIb, Ly108, SF2000, NTB-A, CD352	uc001fwe.2	Q96DU3	OTTHUMG00000022729	ENST00000368057.3:c.631C>A	1.37:g.160460930G>T	ENSP00000357036:p.Gln211Lys					SLAMF6_ENST00000368055.1_Missense_Mutation_p.Q100K|SLAMF6_ENST00000368057.3_Missense_Mutation_p.Q211K	p.Q211K	NM_001184714.1|NM_001184715.1|NM_001184716.1|NM_052931.4	NP_001171643.1|NP_001171644.1|NP_001171645.1|NP_443163.1	Q96DU3	SLAF6_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.0923)		3	700	-	all_cancers(52;1.05e-18)|all_hematologic(112;0.093)		211					A6NMW2|B2R8X8|Q14CF0|Q5TAS4|Q5TAS6|Q5TAT3|Q96DV0	Missense_Mutation	SNP	ENST00000368057.3	37	c.631C>A	CCDS53394.1	.	.	.	.	.	.	.	.	.	.	G	6.182	0.401777	0.11696	.	.	ENSG00000162739	ENST00000368059;ENST00000368057;ENST00000368055	T;T;T	0.37058	1.22;1.22;1.22	4.37	-1.9	0.07665	.	0.843244	0.10443	N	0.674062	T	0.12305	0.0299	L	0.60845	1.875	0.09310	N	1	B;P;B;B;B;B	0.42296	0.449;0.775;0.159;0.073;0.296;0.09	B;B;B;B;B;B	0.39660	0.191;0.306;0.034;0.034;0.102;0.057	T	0.25984	-1.0116	10	0.06099	T	0.92	-0.2907	12.6818	0.56926	0.0:0.0:0.2428:0.7572	.	100;100;162;211;211;211	B7Z6A7;Q5TAS6;B4E1U5;Q96DU3-2;Q96DU3;B2R8X8	.;.;.;.;SLAF6_HUMAN;.	K	211;211;100	ENSP00000357038:Q211K;ENSP00000357036:Q211K;ENSP00000357034:Q100K	ENSP00000357034:Q100K	Q	-	1	0	SLAMF6	158727554	0.000000	0.05858	0.000000	0.03702	0.209000	0.24338	-0.978000	0.03778	-0.093000	0.12396	0.655000	0.94253	CAG		0.498	SLAMF6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059010.1	NM_052931		11	45	1	0	6.40141e-05	1	7.11268e-05	11	45					T	160460930	G	T	160460930	3	4	413	1	0	0	0	0	1	0	0	0	14368	1357	47	5	391	5	SLAMF6	1	160460930	Missense_Mutation	SNP	G	TCGA-VP-A879-01A-11D-A34U-08	136678299	160460930	88789691	3	20003											
CACNA1E	777	broad.mit.edu	37	chr1	181725150	181725150	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgaagggccgggaatggaagCgccatgaattccactacgac	12	6	13	10	3	0	2	0	2	0	0	1	5	1	4	3	3	2	0	3	3	5	2			TCGA-VP-A879-01A-11D-A34U-08	TCGA-VP-A879-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff201859-353a-48ec-80f0-4efbd0274515	d19f8f3a-2084-4991-b2d4-e42c6747adc5	g.chr1:181725150C>T	ENST00000367573.2	+	29	4048	c.4048C>T	c.(4048-4050)Cgc>Tgc	p.R1350C	CACNA1E_ENST00000358338.5_Missense_Mutation_p.R1282C|CACNA1E_ENST00000357570.5_Missense_Mutation_p.R1301C|CACNA1E_ENST00000367567.4_Missense_Mutation_p.R957C|CACNA1E_ENST00000367570.1_Missense_Mutation_p.R1350C|CACNA1E_ENST00000526775.1_Missense_Mutation_p.R1331C|CACNA1E_ENST00000360108.3_Missense_Mutation_p.R1331C	NM_001205293.1	NP_001192222.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	1350					calcium ion import (GO:0070509)|energy reserve metabolic process (GO:0006112)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|voltage-gated calcium channel activity (GO:0005245)			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						GGAATGGAAGCGCCATGAATT	0.493																																						ENST00000526775.1																			0				NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						c.(3991-3993)Cgc>Tgc		calcium channel, voltage-dependent, R type, alpha 1E subunit							90	91	90					1																	181725150		1994	4178	6172	SO:0001583	missense	777				energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr1:181725150C>T	AK096563	CCDS53443.1, CCDS55664.1, CCDS55665.1	1q25.3	2013-01-10	2007-02-16		ENSG00000198216	ENSG00000198216		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels", "EF-hand domain containing"	1392	protein-coding gene	gene with protein product		601013		CACNL1A6		8388125, 16382099	Standard	NM_001205293		Approved	Cav2.3, BII, CACH6	uc009wxt.3	Q15878	OTTHUMG00000037301	ENST00000367573.2:c.4048C>T	1.37:g.181725150C>T	ENSP00000356545:p.Arg1350Cys					CACNA1E_ENST00000367567.4_Missense_Mutation_p.R957C|CACNA1E_ENST00000357570.5_Missense_Mutation_p.R1301C|CACNA1E_ENST00000367573.2_Missense_Mutation_p.R1350C|CACNA1E_ENST00000360108.3_Missense_Mutation_p.R1331C|CACNA1E_ENST00000367570.1_Missense_Mutation_p.R1350C|CACNA1E_ENST00000358338.5_Missense_Mutation_p.R1282C	p.R1331C	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN			28	4156	+			1350					B1AM12|B1AM13|B1AM14|Q14580|Q14581	Missense_Mutation	SNP	ENST00000367573.2	37	c.3991C>T	CCDS55664.1	.	.	.	.	.	.	.	.	.	.	C	25.4	4.634116	0.87660	.	.	ENSG00000198216	ENST00000367570;ENST00000526775;ENST00000357570;ENST00000358338;ENST00000367567;ENST00000360108;ENST00000367573	D;D;D;D;D;D;D	0.98550	-4.99;-4.99;-4.99;-4.99;-4.99;-4.99;-4.99	5.6	5.6	0.85130	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.98308	0.9439	L	0.50333	1.59	0.80722	D	1	P;D;D	0.89917	0.915;1.0;1.0	B;D;D	0.74674	0.254;0.978;0.984	D	0.98640	1.0675	10	0.87932	D	0	.	14.4272	0.67225	0.1475:0.8525:0.0:0.0	.	1331;1350;1350	Q15878-2;Q15878;Q15878-3	.;CAC1E_HUMAN;.	C	1350;1331;1301;1282;957;1331;1350	ENSP00000356542:R1350C;ENSP00000434814:R1331C;ENSP00000350183:R1301C;ENSP00000351101:R1282C;ENSP00000356539:R957C;ENSP00000353222:R1331C;ENSP00000356545:R1350C	ENSP00000350183:R1301C	R	+	1	0	CACNA1E	179991773	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.085000	0.64468	2.788000	0.95919	0.650000	0.86243	CGC		0.493	CACNA1E-003	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090793.2	NM_000721		4	38	0	0	0	1	0	4	38					T	181725150	C	T	181725150	3	4	413	1	0	0	0	0	1	0	0	0	2542	768	27	1	4162	1	CACNA1E	1	181725150	Missense_Mutation	SNP	C	TCGA-VP-A879-01A-11D-A34U-08	21264220	181725150	67525471	4	20004											
ASPM	259266	broad.mit.edu	37	chr1	197111887	197111887	+	Nonsense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggtacaggtggccttcctttTagtaacagtggcagaaagta	11	11	12	7	0	0	1	0	0	0	1	1	1	1	1	2	4	2	4	2	4	5	6	rs587783219		TCGA-VP-A879-01A-11D-A34U-08	TCGA-VP-A879-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff201859-353a-48ec-80f0-4efbd0274515	d19f8f3a-2084-4991-b2d4-e42c6747adc5	g.chr1:197111887T>A	ENST00000367409.4	-	3	1751	c.1495A>T	c.(1495-1497)Aaa>Taa	p.K499*	ASPM_ENST00000294732.7_Nonsense_Mutation_p.K499*	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	499					developmental growth (GO:0048589)|forebrain neuroblast division (GO:0021873)|maintenance of centrosome location (GO:0051661)|mitotic nuclear division (GO:0007067)|negative regulation of asymmetric cell division (GO:0045769)|negative regulation of neuron differentiation (GO:0045665)|neuron migration (GO:0001764)|oogenesis (GO:0048477)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of neuroblast proliferation (GO:0002052)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle pole (GO:0000922)				breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						GCCTTCCTTTTAGTAACAGTG	0.358																																						ENST00000367409.4																			0				breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						c.(1495-1497)Aaa>Taa		asp (abnormal spindle) homolog, microcephaly associated (Drosophila)							140	145	143					1																	197111887		2203	4300	6503	SO:0001587	stop_gained	259266				mitosis	cytoplasm|nucleus	calmodulin binding	g.chr1:197111887T>A	AY367065	CCDS1389.1, CCDS55672.1	1q31	2008-02-05	2006-09-12		ENSG00000066279	ENSG00000066279			19048	protein-coding gene	gene with protein product		605481	"microcephaly, primary autosomal recessive 5", "asp (abnormal spindle)-like, microcephaly associated (Drosophila)"	MCPH5		11078481	Standard	NM_018136		Approved	Calmbp1, ASP, FLJ10517, FLJ10549	uc001gtu.3	Q8IZT6	OTTHUMG00000036277	ENST00000367409.4:c.1495A>T	1.37:g.197111887T>A	ENSP00000356379:p.Lys499*					ASPM_ENST00000294732.7_Nonsense_Mutation_p.K499*	p.K499*	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN			3	1751	-			499					Q4G1H1|Q5VYL3|Q86UX4|Q8IUL2|Q8IZJ7|Q8IZJ8|Q8IZJ9|Q8N4D1|Q9NVS1|Q9NVT6	Nonsense_Mutation	SNP	ENST00000367409.4	37	c.1495A>T	CCDS1389.1	.	.	.	.	.	.	.	.	.	.	T	40	8.361903	0.98777	.	.	ENSG00000066279	ENST00000367409;ENST00000294732	.	.	.	5.44	5.44	0.79542	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.7939	0.78394	0.0:0.0:0.0:1.0	.	.	.	.	X	499	.	ENSP00000294732:K499X	K	-	1	0	ASPM	195378510	1.000000	0.71417	0.788000	0.31933	0.787000	0.44495	3.850000	0.55918	2.187000	0.69744	0.523000	0.50628	AAA		0.358	ASPM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000088256.1	NM_018136		5	163	0	0	0	1	0	5	163					A	197111887	T	A	197111887	4	1	413	1	0	0	0	0	0	1	0	0	1056	1763	61	5	9042	5	ASPM	1	197111887	Nonsense_Mutation	SNP	T	TCGA-VP-A879-01A-11D-A34U-08	15386737	197111887	52138734	5	20005											
TARBP1	6894	broad.mit.edu	37	chr1	234536985	234536985	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aaaagaaatgctcctgaatgCgttgccaattcttcttggca	12	12	8	9	1	2	2	0	1	2	1	3	2	3	2	2	1	3	3	2	1	5	4	rs201389692		TCGA-VP-A879-01A-11D-A34U-08	TCGA-VP-A879-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff201859-353a-48ec-80f0-4efbd0274515	d19f8f3a-2084-4991-b2d4-e42c6747adc5	g.chr1:234536985C>T	ENST00000040877.1	-	25	4012	c.4013G>A	c.(4012-4014)cGc>cAc	p.R1338H	TARBP1_ENST00000483404.1_5'UTR	NM_005646.3	NP_005637.3	Q13395	TARB1_HUMAN	TAR (HIV-1) RNA binding protein 1	1338					regulation of transcription from RNA polymerase II promoter (GO:0006357)|RNA processing (GO:0006396)	nucleus (GO:0005634)	RNA binding (GO:0003723)|RNA methyltransferase activity (GO:0008173)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(7)|large_intestine(6)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	55	Ovarian(103;0.0339)	all_cancers(173;0.00995)|Prostate(94;0.0115)|all_epithelial(177;0.172)	OV - Ovarian serous cystadenocarcinoma(106;0.000263)			CTCCTGAATGCGTTGCCAATT	0.358													C|||	1	0.000199681	0	0.0014	5008	,	,		5065	0		0	False		,,,				2504	0					ENST00000040877.1																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(7)|large_intestine(6)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	55						c.(4012-4014)cGc>cAc		TAR (HIV-1) RNA binding protein 1		C	HIS/ARG	0,4406		0,0,2203	113	105	108		4013	5.1	1	1		108	1,8597		0,1,4298	yes	missense	TARBP1	NM_005646.3	29	0,1,6501	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	1338/1622	234536985	1,13003	2203	4299	6502	SO:0001583	missense	6894				regulation of transcription from RNA polymerase II promoter|RNA processing	nucleus	RNA binding|RNA methyltransferase activity	g.chr1:234536985C>T		CCDS1601.1	1q42.2	2012-06-12	2007-06-26		ENSG00000059588	ENSG00000059588			11568	protein-coding gene	gene with protein product	"tRNA methyltransferase 3 homolog (S. cerevisiae)"	605052	"Tar (HIV-1) RNA binding protein 1"			1936997	Standard	NM_005646		Approved	TRP-185, TRM3	uc001hwd.3	Q13395	OTTHUMG00000037947	ENST00000040877.1:c.4013G>A	1.37:g.234536985C>T	ENSP00000040877:p.Arg1338His					TARBP1_ENST00000483404.1_5'UTR	p.R1338H	NM_005646.3	NP_005637.3	Q13395	TARB1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.000263)		25	4012	-	Ovarian(103;0.0339)	all_cancers(173;0.00995)|Prostate(94;0.0115)|all_epithelial(177;0.172)	1338					Q9H581	Missense_Mutation	SNP	ENST00000040877.1	37	c.4013G>A	CCDS1601.1	.	.	.	.	.	.	.	.	.	.	C	18.69	3.678175	0.68042	0.0	1.16E-4	ENSG00000059588	ENST00000040877	T	0.09073	3.02	5.99	5.08	0.68730	.	0.054165	0.64402	D	0.000002	T	0.29556	0.0737	M	0.77616	2.38	0.52501	D	0.99995	D	0.89917	1.0	D	0.70716	0.97	T	0.03325	-1.1048	10	0.51188	T	0.08	-15.3563	15.4448	0.75220	0.0:0.9333:0.0:0.0667	.	1338	Q13395	TARB1_HUMAN	H	1338	ENSP00000040877:R1338H	ENSP00000040877:R1338H	R	-	2	0	TARBP1	232603608	1.000000	0.71417	1.000000	0.80357	0.663000	0.39108	3.309000	0.51903	1.548000	0.49413	-0.137000	0.14449	CGC		0.358	TARBP1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092616.1	NM_005646		6	23	0	0	0	1	0	6	23					T	234536985	C	T	234536985	3	4	413	1	0	0	0	0	1	0	0	0	15552	768	27	1	876	1	TARBP1	1	234536985	Missense_Mutation	SNP	C	TCGA-VP-A879-01A-11D-A34U-08	37425098	234536985	14713636	6	20006											
LPIN1	23175	broad.mit.edu	37	chr2	11955246	11955246	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atttctctactgttctgcccGtgccatcgggatggcggaca	6	12	11	12	3	2	0	0	0	2	0	4	2	2	2	2	3	3	1	2	3	1	3	rs398124543		TCGA-VP-A879-01A-11D-A34U-08	TCGA-VP-A879-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff201859-353a-48ec-80f0-4efbd0274515	d19f8f3a-2084-4991-b2d4-e42c6747adc5	g.chr2:11955246G>A	ENST00000256720.2	+	17	2267	c.2174G>A	c.(2173-2175)cGt>cAt	p.R725H	LPIN1_ENST00000425416.2_Missense_Mutation_p.R731H|LPIN1_ENST00000404113.2_Missense_Mutation_p.R226H|LPIN1_ENST00000396097.1_Missense_Mutation_p.R455H|LPIN1_ENST00000396099.1_Missense_Mutation_p.R767H|LPIN1_ENST00000449576.2_Missense_Mutation_p.R810H	NM_145693.2	NP_663731.1	Q14693	LPIN1_HUMAN	lipin 1	725	C-LIP.				cellular lipid metabolic process (GO:0044255)|fatty acid catabolic process (GO:0009062)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid metabolic process (GO:0006644)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|triglyceride biosynthetic process (GO:0019432)|triglyceride mobilization (GO:0006642)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	phosphatidate phosphatase activity (GO:0008195)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(15)|liver(1)|lung(10)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	45	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.11)|OV - Ovarian serous cystadenocarcinoma(76;0.173)		TGTTCTGCCCGTGCCATCGGG	0.527																																						ENST00000256720.2																			0				autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(15)|liver(1)|lung(10)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	45						c.(2173-2175)cGt>cAt		lipin 1							56	55	55					2																	11955246		2203	4300	6503	SO:0001583	missense	23175				fatty acid catabolic process|transcription, DNA-dependent|triglyceride biosynthetic process|triglyceride mobilization	cytosol|endoplasmic reticulum membrane	phosphatidate phosphatase activity	g.chr2:11955246G>A	D80010	CCDS1682.1, CCDS58699.1, CCDS58700.1, CCDS58701.1	2p25.1	2008-05-23			ENSG00000134324	ENSG00000134324			13345	protein-coding gene	gene with protein product		605518				11138012, 8724849, 16950137	Standard	NM_145693		Approved	KIAA0188	uc010yjm.3	Q14693	OTTHUMG00000119082	ENST00000256720.2:c.2174G>A	2.37:g.11955246G>A	ENSP00000256720:p.Arg725His					LPIN1_ENST00000404113.2_Missense_Mutation_p.R226H|LPIN1_ENST00000396099.1_Missense_Mutation_p.R767H|LPIN1_ENST00000449576.2_Missense_Mutation_p.R810H|LPIN1_ENST00000396097.1_Missense_Mutation_p.R455H|LPIN1_ENST00000425416.2_Missense_Mutation_p.R731H	p.R725H	NM_145693.2	NP_663731.1	Q14693	LPIN1_HUMAN		Epithelial(75;0.11)|OV - Ovarian serous cystadenocarcinoma(76;0.173)	17	2267	+	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		725			C-LIP.		A8MU38|B4DET9|B4DGS4|B4DGZ6|B5MC18|B7Z858|D6W506|E7ESE7|F5GY24|Q53T25	Missense_Mutation	SNP	ENST00000256720.2	37	c.2174G>A	CCDS1682.1	.	.	.	.	.	.	.	.	.	.	G	32	5.149073	0.94645	.	.	ENSG00000134324	ENST00000449576;ENST00000396099;ENST00000425416;ENST00000256720;ENST00000396097;ENST00000404113	D;D;D;D;D;D	0.85955	-2.05;-2.05;-2.05;-2.05;-2.05;-2.05	4.69	4.69	0.59074	HAD-like domain (2);LNS2, Lipin/Ned1/Smp2 (2);	0.000000	0.85682	D	0.000000	D	0.94611	0.8263	H	0.94847	3.59	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;0.999	D	0.96308	0.9226	10	0.87932	D	0	-14.9771	17.6508	0.88163	0.0:0.0:1.0:0.0	.	226;810;725	B4DET9;F5GY24;Q14693	.;.;LPIN1_HUMAN	H	810;767;731;725;455;226	ENSP00000397908:R810H;ENSP00000379406:R767H;ENSP00000401522:R731H;ENSP00000256720:R725H;ENSP00000379404:R455H;ENSP00000386120:R226H	ENSP00000256720:R725H	R	+	2	0	LPIN1	11872697	1.000000	0.71417	0.494000	0.27515	0.982000	0.71751	9.282000	0.95840	2.156000	0.67533	0.655000	0.94253	CGT		0.527	LPIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239296.3	NM_145693		8	53	0	0	0	1	0	8	53					A	11955246	G	A	11955246	3	1	413	1	0	0	0	0	1	0	0	0	8918	1145	40	1	2236	1	LPIN1	2	11955246	Missense_Mutation	SNP	G	TCGA-VP-A879-01A-11D-A34U-08		11955246	231244127	7	20007											
ASXL2	55252	broad.mit.edu	37	chr2	25966130	25966130	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aacctgggggagctgcttacTttgcaaggttttgcccagct	7	12	12	10	0	0	0	0	0	0	0	0	1	0	1	2	3	7	5	2	3	3	4			TCGA-VP-A879-01A-11D-A34U-08	TCGA-VP-A879-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff201859-353a-48ec-80f0-4efbd0274515	d19f8f3a-2084-4991-b2d4-e42c6747adc5	g.chr2:25966130T>G	ENST00000435504.4	-	13	3369	c.3076A>C	c.(3076-3078)Agt>Cgt	p.S1026R	ASXL2_ENST00000404843.1_Intron|ASXL2_ENST00000336112.4_Missense_Mutation_p.S998R|ASXL2_ENST00000272341.4_Intron			Q76L83	ASXL2_HUMAN	additional sex combs like transcriptional regulator 2	1026					adult heart development (GO:0007512)|embryonic skeletal system morphogenesis (GO:0048704)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of bone mineralization involved in bone maturation (GO:1900159)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of histone H3-K27 trimethylation (GO:1902466)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035360)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|peroxisome proliferator activated receptor binding (GO:0042975)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(3)	33	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AGCTGCTTACTTTGCAAGGTT	0.512																																						ENST00000435504.4																			0				NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(3)	33						c.(3076-3078)Agt>Cgt		additional sex combs like 2 (Drosophila)							71	72	71					2																	25966130		1948	4148	6096	SO:0001583	missense	55252				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|protein binding	g.chr2:25966130T>G			2p24.1	2014-06-17	2014-06-17		ENSG00000143970	ENSG00000143970			23805	protein-coding gene	gene with protein product		612991	"additional sex combs like 2 (Drosophila)"			12888926	Standard	NM_018263		Approved	ASXH2, FLJ10898, KIAA1685	uc002rgs.2	Q76L83	OTTHUMG00000152176	ENST00000435504.4:c.3076A>C	2.37:g.25966130T>G	ENSP00000391447:p.Ser1026Arg					ASXL2_ENST00000272341.4_Intron|ASXL2_ENST00000404843.1_Intron|ASXL2_ENST00000336112.4_Missense_Mutation_p.S998R	p.S1026R			Q76L83	ASXL2_HUMAN			13	3369	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		1026					Q53TC9|Q5H9U4|Q76L81|Q86XM1|Q9C0H8|Q9NV67	Missense_Mutation	SNP	ENST00000435504.4	37	c.3076A>C		.	.	.	.	.	.	.	.	.	.	T	14.80	2.643672	0.47258	.	.	ENSG00000143970	ENST00000435504;ENST00000336112	T;T	0.35236	1.32;1.32	6.07	3.74	0.42951	.	0.270973	0.48767	D	0.000169	T	0.42517	0.1206	M	0.67953	2.075	0.80722	D	1	D	0.56521	0.976	P	0.49140	0.601	T	0.42699	-0.9436	10	0.87932	D	0	-2.2711	9.0878	0.36592	0.0:0.1482:0.0:0.8518	.	1026	Q76L83	ASXL2_HUMAN	R	1026;998	ENSP00000391447:S1026R;ENSP00000337250:S998R	ENSP00000337250:S998R	S	-	1	0	ASXL2	25819634	0.002000	0.14202	0.788000	0.31933	0.784000	0.44337	1.102000	0.31050	1.122000	0.41944	0.533000	0.62120	AGT		0.512	ASXL2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000325593.3	NM_018263		5	29	0	0	0	1	0	5	29					G	25966130	T	G	25966130	3	3	413	1	0	0	0	0	1	0	0	0	1067	1609	56	5	1235	5	ASXL2	2	25966130	Missense_Mutation	SNP	T	TCGA-VP-A879-01A-11D-A34U-08	14010884	25966130	217233243	8	20008											
TIA1	7072	broad.mit.edu	37	chr2	70439876	70439876	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gggtttcataccctgccactCgatacccagaaggctgattg	9	10	10	12	1	1	2	1	1	0	1	2	3	1	2	3	2	3	2	3	2	3	4			TCGA-VP-A879-01A-11D-A34U-08	TCGA-VP-A879-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff201859-353a-48ec-80f0-4efbd0274515	d19f8f3a-2084-4991-b2d4-e42c6747adc5	g.chr2:70439876C>T	ENST00000433529.2	-	13	1346	c.1136G>A	c.(1135-1137)cGa>cAa	p.R379Q	TIA1_ENST00000415783.2_Missense_Mutation_p.R368Q|C2orf42_ENST00000470096.1_Intron|TIA1_ENST00000282574.4_Missense_Mutation_p.R378Q|TIA1_ENST00000482876.1_5'Flank|TIA1_ENST00000445587.1_Missense_Mutation_p.R278Q	NM_022173.2	NP_071505.2	P31483	TIA1_HUMAN	TIA1 cytotoxic granule-associated RNA binding protein	379					apoptotic process (GO:0006915)|negative regulation of cytokine biosynthetic process (GO:0042036)|negative regulation of translation (GO:0017148)|regulation of mRNA splicing, via spliceosome (GO:0048024)	cytoplasmic stress granule (GO:0010494)|nuclear stress granule (GO:0097165)	AU-rich element binding (GO:0017091)|nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)			endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|skin(1)|urinary_tract(1)	17						CCCTGCCACTCGATACCCAGA	0.488																																						ENST00000433529.2																			0				endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|skin(1)|urinary_tract(1)	17						c.(1135-1137)cGa>cAa		TIA1 cytotoxic granule-associated RNA binding protein							154	142	146					2																	70439876		2203	4300	6503	SO:0001583	missense	7072				apoptosis|induction of apoptosis|regulation of nuclear mRNA splicing, via spliceosome	nucleus	nucleotide binding|poly(A) RNA binding|protein binding	g.chr2:70439876C>T		CCDS1900.1, CCDS1901.1	2p13	2013-02-12	2001-11-28		ENSG00000116001	ENSG00000116001		"RNA binding motif (RRM) containing"	11802	protein-coding gene	gene with protein product	"T-cell-restricted intracellular antigen-1", "nucleolysin TIA-1 isoform p40"	603518	"TIA1 cytotoxic granule-associated RNA-binding protein"			8176212, 12486009	Standard	NM_022173		Approved		uc002sgj.4	P31483	OTTHUMG00000129644	ENST00000433529.2:c.1136G>A	2.37:g.70439876C>T	ENSP00000401371:p.Arg379Gln					TIA1_ENST00000282574.4_Missense_Mutation_p.R378Q|TIA1_ENST00000415783.2_Missense_Mutation_p.R368Q|TIA1_ENST00000445587.1_Missense_Mutation_p.R278Q|C2orf42_ENST00000470096.1_Intron	p.R379Q	NM_022173.2	NP_071505.2	P31483	TIA1_HUMAN			13	1346	-			379					Q53SS9	Missense_Mutation	SNP	ENST00000433529.2	37	c.1136G>A	CCDS1901.1	.	.	.	.	.	.	.	.	.	.	C	10.16	1.274874	0.23307	.	.	ENSG00000116001	ENST00000433529;ENST00000415783;ENST00000477807;ENST00000282574;ENST00000445587	T;T;T;T	0.25085	1.82;1.99;1.91;1.95	5.97	4.2	0.49525	.	0.113869	0.64402	D	0.000014	T	0.11879	0.0289	N	0.14661	0.345	0.80722	D	1	P;P	0.50369	0.871;0.934	B;B	0.35550	0.205;0.101	T	0.09729	-1.0661	10	0.19590	T	0.45	-6.8862	11.5037	0.50451	0.0:0.8552:0.0:0.1448	.	368;379	P31483-2;P31483	.;TIA1_HUMAN	Q	379;368;456;378;278	ENSP00000401371:R379Q;ENSP00000404023:R368Q;ENSP00000282574:R378Q;ENSP00000399567:R278Q	ENSP00000282574:R378Q	R	-	2	0	TIA1	70293380	1.000000	0.71417	1.000000	0.80357	0.928000	0.56348	5.057000	0.64294	0.878000	0.35920	0.655000	0.94253	CGA		0.488	TIA1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251842.2	NM_022037		37	136	0	0	0	1	0	37	136					T	70439876	C	T	70439876	3	4	413	1	0	0	0	0	1	0	0	0	15884	884	31	2	28	2	TIA1	2	70439876	Missense_Mutation	SNP	C	TCGA-VP-A879-01A-11D-A34U-08	44473746	70439876	172759497	9	20009											
LRP1B	53353	broad.mit.edu	37	chr2	141072599	141072599	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aataactgggccaacagtgaCacctcaaatcacctttctca	14	9	5	13	0	3	1	3	1	1	0	4	1	3	1	3	1	2	0	3	1	4	2			TCGA-VP-A879-01A-11D-A34U-08	TCGA-VP-A879-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff201859-353a-48ec-80f0-4efbd0274515	d19f8f3a-2084-4991-b2d4-e42c6747adc5	g.chr2:141072599C>A	ENST00000389484.3	-	83	13681	c.12710G>T	c.(12709-12711)tGt>tTt	p.C4237F		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	4237	EGF-like 17. {ECO:0000255|PROSITE- ProRule:PRU00076}.				protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CCAACAGTGACACCTCAAATC	0.383										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	ENST00000389484.3																			0				NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606						c.(12709-12711)tGt>tTt		low density lipoprotein receptor-related protein 1B							154	139	144					2																	141072599		2203	4300	6503	SO:0001583	missense	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141072599C>A	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"Low density lipoprotein receptors"	6693	protein-coding gene	gene with protein product	"LRP-deleted in tumors"	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.12710G>T	2.37:g.141072599C>A	ENSP00000374135:p.Cys4237Phe	TSP Lung(27;0.18)					p.C4237F	NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)	83	13681	-		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)	4237			EGF-like 10.		Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	c.12710G>T	CCDS2182.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.1|21.1	4.105208|4.105208	0.77096|0.77096	.|.	.|.	ENSG00000168702|ENSG00000168702	ENST00000389484;ENST00000544579|ENST00000437977	D|.	0.88124|.	-2.34|.	6.06|6.06	6.06|6.06	0.98353|0.98353	Growth factor, receptor (1);Epidermal growth factor-like (1);EGF-like region, conserved site (1);Epidermal growth factor-like, type 3 (1);|.	0.124659|.	0.56097|.	D|.	0.000035|.	T|T	0.76463|0.76463	0.3991|0.3991	M|M	0.68593|0.68593	2.085|2.085	0.80722|0.80722	D|D	1|1	D|.	0.76494|.	0.999|.	D|.	0.80764|.	0.994|.	T|T	0.72414|0.72414	-0.4301|-0.4301	10|5	0.49607|.	T|.	0.09|.	.|.	20.6208|20.6208	0.99490|0.99490	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	4237|.	Q9NZR2|.	LRP1B_HUMAN|.	F|F	4237;4175|469	ENSP00000374135:C4237F|.	ENSP00000374135:C4237F|.	C|V	-|-	2|1	0|0	LRP1B|LRP1B	140789069|140789069	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.985000|0.985000	0.73830|0.73830	7.284000|7.284000	0.78650|0.78650	2.882000|2.882000	0.98803|0.98803	0.655000|0.655000	0.94253|0.94253	TGT|GTC		0.383	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		4	77	1	0	0.150653	1	0.158583	4	77					A	141072599	C	A	141072599	3	1	413	1	0	0	0	0	1	0	0	0	8955	478	17	5	1125	5	LRP1B	2	141072599	Missense_Mutation	SNP	C	TCGA-VP-A879-01A-11D-A34U-08	70632723	141072599	102126774	10	20010											
YEATS2	55689	broad.mit.edu	37	chr3	183490196	183490196	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	caaggccagctcttctgtctCcaaagcagttgggccaaagc	10	8	10	13	0	3	0	0	0	3	0	4	0	3	0	3	2	3	3	3	2	3	2			TCGA-VP-A879-01A-11D-A34U-08	TCGA-VP-A879-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff201859-353a-48ec-80f0-4efbd0274515	d19f8f3a-2084-4991-b2d4-e42c6747adc5	g.chr3:183490196C>T	ENST00000305135.5	+	16	2246	c.2051C>T	c.(2050-2052)tCc>tTc	p.S684F		NM_018023.4	NP_060493.3	Q9ULM3	YETS2_HUMAN	YEATS domain containing 2	684					chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|mitotic spindle (GO:0072686)	TBP-class protein binding (GO:0017025)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(24)|ovary(3)|prostate(2)|skin(3)	49	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		all cancers(12;2.38e-42)|Epithelial(37;1.9e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			TCTTCTGTCTCCAAAGCAGTT	0.537																																						ENST00000305135.5																			0				NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(24)|ovary(3)|prostate(2)|skin(3)	49						c.(2050-2052)tCc>tTc		YEATS domain containing 2							104	102	102					3																	183490196		2007	4177	6184	SO:0001583	missense	55689				histone H3 acetylation|negative regulation of transcription from RNA polymerase II promoter	Ada2/Gcn5/Ada3 transcription activator complex	TBP-class protein binding	g.chr3:183490196C>T	AB033023	CCDS43175.1	3q27.3	2004-08-18			ENSG00000163872	ENSG00000163872			25489	protein-coding gene	gene with protein product		613373				10574462	Standard	NM_018023		Approved	FLJ10201, FLJ12841, FLJ13308, KIAA1197	uc003fly.2	Q9ULM3	OTTHUMG00000156898	ENST00000305135.5:c.2051C>T	3.37:g.183490196C>T	ENSP00000306983:p.Ser684Phe						p.S684F	NM_018023.4	NP_060493.3	Q9ULM3	YETS2_HUMAN	all cancers(12;2.38e-42)|Epithelial(37;1.9e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)		16	2246	+	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		684					A7E2B9|D3DNS9|Q641P6|Q9NW96	Missense_Mutation	SNP	ENST00000305135.5	37	c.2051C>T	CCDS43175.1	.	.	.	.	.	.	.	.	.	.	C	15.57	2.873752	0.51695	.	.	ENSG00000163872	ENST00000421660;ENST00000305135	T	0.45276	0.9	5.48	5.48	0.80851	.	0.306464	0.31624	N	0.007336	T	0.27798	0.0684	N	0.19112	0.55	0.40172	D	0.977181	B	0.33448	0.412	B	0.25614	0.062	T	0.18745	-1.0327	10	0.72032	D	0.01	-0.0044	13.6288	0.62183	0.0:0.9256:0.0:0.0744	.	684	Q9ULM3	YETS2_HUMAN	F	684	ENSP00000306983:S684F	ENSP00000306983:S684F	S	+	2	0	YEATS2	184972890	1.000000	0.71417	0.951000	0.38953	0.888000	0.51559	5.717000	0.68446	2.576000	0.86940	0.467000	0.42956	TCC		0.537	YEATS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346507.2	NM_018023		20	73	0	0	0	1	0	20	73					T	183490196	C	T	183490196	3	4	413	1	0	0	0	0	1	0	0	0	17469	855	30	3	2109	3	YEATS2	3	183490196	Missense_Mutation	SNP	C	TCGA-VP-A879-01A-11D-A34U-08		183490196	14532234	11	20011											
SLC30A9	10463	broad.mit.edu	37	chr4	42024869	42024869	+	Frame_Shift_Del	DEL	T	T	-																															ctctagtgatctagaacaacTtcgaaaaatcagacgacgaa																										TCGA-VP-A879-01A-11D-A34U-08	TCGA-VP-A879-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff201859-353a-48ec-80f0-4efbd0274515	d19f8f3a-2084-4991-b2d4-e42c6747adc5	g.chr4:42024869delT	ENST00000264451.7	+	5	629	c.449delT	c.(448-450)cttfs	p.L150fs		NM_006345.3	NP_006336.3	Q6PML9	ZNT9_HUMAN	solute carrier family 30 (zinc transporter), member 9	150					nucleotide-excision repair (GO:0006289)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)|zinc ion transport (GO:0006829)	cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	cation transmembrane transporter activity (GO:0008324)|chromatin binding (GO:0003682)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						CTAGAACAACTTCGAAAAATC	0.343																																						ENST00000264451.6																			0				central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						c.(448-450)ctfs		solute carrier family 30 (zinc transporter), member 9							81	87	85					4																	42024869		2203	4299	6502	SO:0001589	frameshift_variant	10463				nucleotide-excision repair|zinc ion transport	cytoskeleton|integral to membrane|nucleus	cation transmembrane transporter activity|nucleotide binding|sequence-specific DNA binding transcription factor activity	g.chr4:42024869delT	AF006621	CCDS3465.1	4p13	2013-05-22	2003-09-09	2003-09-10	ENSG00000014824	ENSG00000014824		"Solute carriers"	1329	protein-coding gene	gene with protein product	"GRIP1-dependent nuclear receptor coactivator"	604604	"chromosome 4 open reading frame 1"	C4orf1		10409434, 11906820	Standard	NM_006345		Approved	HUEL, ZNT9, GAC63	uc003gwl.3	Q6PML9	OTTHUMG00000099387	ENST00000264451.7:c.449delT	4.37:g.42024869delT	ENSP00000264451:p.Leu150fs						p.L150fs	NM_006345.3	NP_006336.3	Q6PML9	ZNT9_HUMAN			5	629	+			150					Q4W5B6|Q7Z5I7|Q8TBB2|Q9Y6R2	Frame_Shift_Del	DEL	ENST00000264451.7	37	c.449delT	CCDS3465.1																																																																																				0.343	SLC30A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216842.3			28	60						28	60	---	---	---	---	-	42024869	T	-	42024869	7	5	413	1	0	1	0	1	0	0	0	0	14562	1609	56	0	467	0	SLC30A9	4	42024869	Frame_Shift_Del	DEL	T	TCGA-VP-A879-01A-11D-A34U-08		42024869	149129407	12	20012											
CNOT6L	246175	broad.mit.edu	37	chr4	78641641	78641641	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aggcaggagtggagggtggaGttcaagttgtgttaacagtg	10	10	18	3	0	1	0	1	0	0	0	1	3	1	3	0	5	1	4	0	5	2	3			TCGA-VP-A879-01A-11D-A34U-08	TCGA-VP-A879-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff201859-353a-48ec-80f0-4efbd0274515	d19f8f3a-2084-4991-b2d4-e42c6747adc5	g.chr4:78641641G>C	ENST00000504123.1	-	12	1742	c.1612C>G	c.(1612-1614)Ctc>Gtc	p.L538V	CNOT6L_ENST00000264903.4_Missense_Mutation_p.L538V			Q96LI5	CNO6L_HUMAN	CCR4-NOT transcription complex, subunit 6-like	538	Nuclease domain.				gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA destabilization (GO:0061157)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytoplasmic mRNA processing body assembly (GO:0010606)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|transcription, DNA-templated (GO:0006351)	CCR4-NOT complex (GO:0030014)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A)-specific ribonuclease activity (GO:0004535)			kidney(1)|large_intestine(1)|lung(6)|urinary_tract(1)	9						GGAGGGTGGAGTTCAAGTTGT	0.527																																						ENST00000504123.1																			0				kidney(1)|large_intestine(1)|lung(6)|urinary_tract(1)	9						c.(1612-1614)Ctc>Gtc		CCR4-NOT transcription complex, subunit 6-like							96	97	96					4																	78641641		1925	4112	6037	SO:0001583	missense	246175				nuclear-transcribed mRNA poly(A) tail shortening	cytosol	exonuclease activity|protein binding	g.chr4:78641641G>C	AL133112	CCDS68731.1	4q13.3	2014-06-17				ENSG00000138767			18042	protein-coding gene	gene with protein product							Standard	NM_144571		Approved	DKFZp434K098, Ccr4b	uc003hks.3	Q96LI5		ENST00000504123.1:c.1612C>G	4.37:g.78641641G>C	ENSP00000424896:p.Leu538Val					CNOT6L_ENST00000264903.4_Missense_Mutation_p.L538V	p.L538V			Q96LI5	CNO6L_HUMAN			12	1742	-			538					Q9UF92	Missense_Mutation	SNP	ENST00000504123.1	37	c.1612C>G		.	.	.	.	.	.	.	.	.	.	G	7.891	0.732341	0.15507	.	.	ENSG00000138767	ENST00000504123;ENST00000264903;ENST00000512485	D;D;D	0.95885	-3.84;-3.84;-3.84	5.95	5.95	0.96441	Endonuclease/exonuclease/phosphatase (1);	1.258460	0.05679	N	0.590056	D	0.93344	0.7878	L	0.35414	1.06	0.80722	D	1	B	0.29270	0.24	B	0.31442	0.13	T	0.76647	-0.2882	10	0.06494	T	0.89	-2.3301	20.3921	0.98947	0.0:0.0:1.0:0.0	.	538	Q96LI5	CNO6L_HUMAN	V	538;538;545	ENSP00000424896:L538V;ENSP00000264903:L538V;ENSP00000425571:L545V	ENSP00000264903:L538V	L	-	1	0	CNOT6L	78860665	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.771000	0.62318	2.822000	0.97130	0.650000	0.86243	CTC		0.527	CNOT6L-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000362515.1			7	157	0	0	0	1	0	7	157					C	78641641	G	C	78641641	3	2	413	1	0	0	0	0	1	0	0	0	3623	1029	36	5	59	5	CNOT6L	4	78641641	Missense_Mutation	SNP	G	TCGA-VP-A879-01A-11D-A34U-08	36616772	78641641	112512635	13	20013											
KIAA1109	84162	broad.mit.edu	37	chr4	123237982	123237982	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cgtatagtggatatcagagaActgaatgaacaggccaaagt	16	8	11	6	1	1	3	1	2	0	1	1	5	1	4	1	2	2	1	1	2	7	3			TCGA-VP-A879-01A-11D-A34U-08	TCGA-VP-A879-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff201859-353a-48ec-80f0-4efbd0274515	d19f8f3a-2084-4991-b2d4-e42c6747adc5	g.chr4:123237982A>G	ENST00000264501.4	+	62	11008	c.10635A>G	c.(10633-10635)gaA>gaG	p.E3545E	KIAA1109_ENST00000388738.3_Silent_p.E3545E|KIAA1109_ENST00000455637.1_Silent_p.E3545E			Q2LD37	K1109_HUMAN	KIAA1109	3545					regulation of cell growth (GO:0001558)|regulation of epithelial cell differentiation (GO:0030856)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						ATATCAGAGAACTGAATGAAC	0.353																																						ENST00000264501.4																			0				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						c.(10633-10635)gaA>gaG		KIAA1109							106	106	106					4																	123237982		1852	4092	5944	SO:0001819	synonymous_variant	84162				regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus		g.chr4:123237982A>G	AL137384	CCDS43267.1	4q28.1	2012-07-09			ENSG00000138688	ENSG00000138688			26953	protein-coding gene	gene with protein product	"fragile site-associated"	611565				16386706	Standard	NM_015312		Approved	FLJ21404, FSA, KIAA1371, Tweek	uc003ieh.3	Q2LD37	OTTHUMG00000150116	ENST00000264501.4:c.10635A>G	4.37:g.123237982A>G						KIAA1109_ENST00000455637.1_Silent_p.E3545E|KIAA1109_ENST00000388738.3_Silent_p.E3545E	p.E3545E			Q2LD37	K1109_HUMAN			62	11008	+			3545					Q4W598|Q5CZA9|Q6ZS70|Q6ZV75|Q86XA5|Q8WVD8|Q9H742|Q9NT48|Q9NTC3|Q9NTI4|Q9P2H6|Q9UPP3	Silent	SNP	ENST00000264501.4	37	c.10635A>G	CCDS43267.1	.	.	.	.	.	.	.	.	.	.	A	7.224	0.598014	0.13939	.	.	ENSG00000138688	ENST00000419325	.	.	.	5.61	0.45	0.16624	.	.	.	.	.	T	0.58595	0.2133	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.52373	-0.8584	4	.	.	.	.	11.106	0.48203	0.6142:0.0:0.3858:0.0	.	.	.	.	A	1503	.	.	T	+	1	0	KIAA1109	123457432	1.000000	0.71417	0.993000	0.49108	0.894000	0.52154	0.912000	0.28597	-0.120000	0.11809	-0.264000	0.10439	ACT		0.353	KIAA1109-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316415.1	NM_020797		4	48	0	0	0	1	0	4	48					G	123237982	A	G	123237982	2	3	413	1	0	0	0	0	0	0	0	1	8208	40	2	4		4	KIAA1109	4	123237982	Silent	SNP	A	TCGA-VP-A879-01A-11D-A34U-08	44596341	123237982	67916294	14	20014											
IL6ST	3572	broad.mit.edu	37	chr5	55237352	55237352	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttgagaagacttggactgacGgaacttggtgtctgtagcca	10	11	13	7	1	1	3	0	2	1	2	1	6	1	5	1	3	2	1	1	3	3	4			TCGA-VP-A879-01A-11D-A34U-08	TCGA-VP-A879-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff201859-353a-48ec-80f0-4efbd0274515	d19f8f3a-2084-4991-b2d4-e42c6747adc5	g.chr5:55237352G>A	ENST00000381298.2	-	17	2627	c.2315C>T	c.(2314-2316)cCg>cTg	p.P772L	CTD-2031P19.5_ENST00000576302.1_RNA|IL6ST_ENST00000381287.4_3'UTR|IL6ST_ENST00000336909.5_Missense_Mutation_p.P772L|IL6ST_ENST00000381294.3_Missense_Mutation_p.P711L|IL6ST_ENST00000502326.3_Missense_Mutation_p.P772L|IL6ST_ENST00000536319.1_3'UTR	NM_001190981.1|NM_002184.3|NM_175767.2	NP_001177910.1|NP_002175.2|NP_786943.1	P40189	IL6RB_HUMAN	interleukin 6 signal transducer	772					ciliary neurotrophic factor-mediated signaling pathway (GO:0070120)|cytokine-mediated signaling pathway (GO:0019221)|glycogen metabolic process (GO:0005977)|interleukin-27-mediated signaling pathway (GO:0070106)|interleukin-6-mediated signaling pathway (GO:0070102)|leukemia inhibitory factor signaling pathway (GO:0048861)|negative regulation of apoptotic process (GO:0043066)|negative regulation of interleukin-6-mediated signaling pathway (GO:0070104)|oncostatin-M-mediated signaling pathway (GO:0038165)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of adaptive immune response (GO:0002821)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|positive regulation of cell proliferation (GO:0008284)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of Notch signaling pathway (GO:0008593)|response to cytokine (GO:0034097)|viral process (GO:0016032)	ciliary neurotrophic factor receptor complex (GO:0070110)|dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|interleukin-6 receptor complex (GO:0005896)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|oncostatin-M receptor complex (GO:0005900)|plasma membrane (GO:0005886)	ciliary neurotrophic factor receptor activity (GO:0004897)|ciliary neurotrophic factor receptor binding (GO:0005127)|growth factor binding (GO:0019838)|interleukin-11 receptor activity (GO:0004921)|interleukin-27 receptor activity (GO:0045509)|protein homodimerization activity (GO:0042803)			breast(2)|endometrium(5)|kidney(5)|large_intestine(4)|liver(2)|lung(1)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	26		Lung NSC(810;8.69e-05)|Prostate(74;0.00308)|Breast(144;0.0544)|Ovarian(174;0.223)				TTGGACTGACGGAACTTGGTG	0.463			O		hepatocellular ca																																	ENST00000381298.2				Dom	yes		5	5q11	3572	O	"interleukin 6 signal transducer (gp130, oncostatin M receptor)"			E			hepatocellular ca		0				breast(2)|endometrium(5)|kidney(5)|large_intestine(4)|liver(2)|lung(1)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	26						c.(2314-2316)cCg>cTg		interleukin 6 signal transducer (gp130, oncostatin M receptor)							131	132	132					5																	55237352		2203	4300	6503	SO:0001583	missense	3572				interleukin-6-mediated signaling pathway|leukemia inhibitory factor signaling pathway|negative regulation of interleukin-6-mediated signaling pathway|positive regulation of anti-apoptosis|positive regulation of cardiac muscle hypertrophy|positive regulation of osteoblast differentiation|positive regulation of T cell proliferation|positive regulation of tyrosine phosphorylation of Stat1 protein|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation vascular endothelial growth factor production	ciliary neurotrophic factor receptor complex|extracellular region|extracellular space|interleukin-6 receptor complex|oncostatin-M receptor complex	ciliary neurotrophic factor receptor activity|ciliary neurotrophic factor receptor binding|growth factor binding|protein homodimerization activity	g.chr5:55237352G>A	M57230	CCDS3971.1, CCDS47209.1, CCDS54856.1	5q11.2	2014-04-04	2014-04-04		ENSG00000134352	ENSG00000134352		"Interleukins and interleukin receptors", "CD molecules", "Fibronectin type III domain containing"	6021	protein-coding gene	gene with protein product	"gp130, oncostatin M receptor"	600694	"interleukin 6 signal transducer (gp130, oncostatin M receptor)"			2261637	Standard	NM_002184		Approved	GP130, CD130	uc003jqq.3	P40189	OTTHUMG00000097043	ENST00000381298.2:c.2315C>T	5.37:g.55237352G>A	ENSP00000370698:p.Pro772Leu					IL6ST_ENST00000336909.5_Missense_Mutation_p.P772L|IL6ST_ENST00000502326.3_Missense_Mutation_p.P772L|IL6ST_ENST00000536319.1_3'UTR|IL6ST_ENST00000381294.3_Missense_Mutation_p.P711L|CTD-2031P19.5_ENST00000576302.1_RNA|IL6ST_ENST00000381287.4_3'UTR	p.P772L	NM_001190981.1|NM_002184.3|NM_175767.2	NP_001177910.1|NP_002175.2|NP_786943.1	P40189	IL6RB_HUMAN			17	2627	-		Lung NSC(810;8.69e-05)|Prostate(74;0.00308)|Breast(144;0.0544)|Ovarian(174;0.223)	772					A0N0L4|Q5FC04|Q9UQ41	Missense_Mutation	SNP	ENST00000381298.2	37	c.2315C>T	CCDS3971.1	.	.	.	.	.	.	.	.	.	.	G	23.4	4.408161	0.83340	.	.	ENSG00000134352	ENST00000381298;ENST00000336909;ENST00000381294	T;T;T	0.51071	1.15;1.15;0.72	5.4	5.4	0.78164	.	0.385553	0.22750	N	0.056091	T	0.58666	0.2138	N	0.24115	0.695	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.63171	-0.6697	10	0.87932	D	0	.	19.5543	0.95335	0.0:0.0:1.0:0.0	.	772;711;772	Q17RA0;Q5FC04;P40189	.;.;IL6RB_HUMAN	L	772;772;711	ENSP00000370698:P772L;ENSP00000338799:P772L;ENSP00000370694:P711L	ENSP00000338799:P772L	P	-	2	0	IL6ST	55273109	1.000000	0.71417	0.631000	0.29282	0.574000	0.36063	8.701000	0.91331	2.687000	0.91594	0.557000	0.71058	CCG		0.463	IL6ST-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000214146.3	NM_002184		7	149	0	0	0	1	0	7	149					A	55237352	G	A	55237352	3	1	413	1	0	0	0	0	1	0	0	0	7703	1116	39	2	445	2	IL6ST	5	55237352	Missense_Mutation	SNP	G	TCGA-VP-A879-01A-11D-A34U-08		55237352	125677908	15	20015											
SLCO6A1	133482	broad.mit.edu	37	chr5	101735275	101735275	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ataccgcgtcatggccaagaCgattggtacaccagaaaaac	15	6	9	11	3	1	2	1	0	0	2	1	3	1	2	3	2	3	1	3	2	5	3	rs547449839		TCGA-VP-A879-01A-11D-A34U-08	TCGA-VP-A879-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff201859-353a-48ec-80f0-4efbd0274515	d19f8f3a-2084-4991-b2d4-e42c6747adc5	g.chr5:101735275C>T	ENST00000506729.1	-	10	1969	c.1798G>A	c.(1798-1800)Gtc>Atc	p.V600I	SLCO6A1_ENST00000379810.1_Missense_Mutation_p.V347I|SLCO6A1_ENST00000513675.1_Missense_Mutation_p.V347I|SLCO6A1_ENST00000389019.3_Missense_Mutation_p.V538I|SLCO6A1_ENST00000379807.3_Missense_Mutation_p.V600I			Q86UG4	SO6A1_HUMAN	solute carrier organic anion transporter family, member 6A1	600						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(17)|lung(22)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	60		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)		ATGGCCAAGACGATTGGTACA	0.303													C|||	1	0.000199681	8e-04	0	5008	,	,		13926	0		0	False		,,,				2504	0					ENST00000506729.1																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(17)|lung(22)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						c.(1798-1800)Gtc>Atc		solute carrier organic anion transporter family, member 6A1							72	69	70					5																	101735275		2203	4300	6503	SO:0001583	missense	133482					integral to membrane|plasma membrane	transporter activity	g.chr5:101735275C>T	AF505657	CCDS34206.1, CCDS75282.1	5q21.2	2013-05-22			ENSG00000205359	ENSG00000205359		"Solute carriers"	23613	protein-coding gene	gene with protein product	"cancer/testis antigen 48"	613365					Standard	XM_005271874		Approved	OATP6A1, OATPY, MGC26949, CT48	uc003knp.3	Q86UG4	OTTHUMG00000162759	ENST00000506729.1:c.1798G>A	5.37:g.101735275C>T	ENSP00000421339:p.Val600Ile					SLCO6A1_ENST00000513675.1_Missense_Mutation_p.V347I|SLCO6A1_ENST00000379807.3_Missense_Mutation_p.V600I|SLCO6A1_ENST00000389019.3_Missense_Mutation_p.V538I|SLCO6A1_ENST00000379810.1_Missense_Mutation_p.V347I	p.V600I			Q86UG4	SO6A1_HUMAN		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)	10	1969	-		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)	600					A6NHC1|Q6ZMY5|Q86UV2|Q8IYU5	Missense_Mutation	SNP	ENST00000506729.1	37	c.1798G>A	CCDS34206.1	.	.	.	.	.	.	.	.	.	.	C	7.444	0.641310	0.14451	.	.	ENSG00000205359	ENST00000506729;ENST00000379807;ENST00000389019;ENST00000513675;ENST00000379810	T;T;T;T;T	0.38240	1.15;1.15;1.15;1.15;1.15	5.42	0.12	0.14691	Major facilitator superfamily domain, general substrate transporter (1);	0.637869	0.15375	N	0.265629	T	0.10895	0.0266	N	0.01668	-0.77	0.09310	N	1	B;B;B	0.15930	0.0;0.015;0.0	B;B;B	0.18263	0.0;0.021;0.001	T	0.33904	-0.9850	10	0.14252	T	0.57	.	5.9224	0.19091	0.0:0.1628:0.1416:0.6957	.	538;347;600	Q86UG4-2;C9J020;Q86UG4	.;.;SO6A1_HUMAN	I	600;600;538;347;347	ENSP00000421339:V600I;ENSP00000369135:V600I;ENSP00000373671:V538I;ENSP00000421990:V347I;ENSP00000369138:V347I	ENSP00000369135:V600I	V	-	1	0	SLCO6A1	101763174	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.135000	0.10420	-0.084000	0.12595	-1.119000	0.02030	GTC		0.303	SLCO6A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370335.1	NM_173488		17	52	0	0	0	1	0	17	52					T	101735275	C	T	101735275	3	4	413	1	0	0	0	0	1	0	0	0	14732	536	19	1	377	1	SLCO6A1	5	101735275	Missense_Mutation	SNP	C	TCGA-VP-A879-01A-11D-A34U-08	46497923	101735275	79179985	16	20016											
HIST1H3B	8358	broad.mit.edu	37	chr6	26031999	26031999	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccctaccaagtaggcctcaCaagcctcctgcagcgccatc	9	6	8	18	1	1	0	1	0	0	0	3	0	2	0	6	1	4	2	6	1	4	2			TCGA-VP-A879-01A-11D-A34U-08	TCGA-VP-A879-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff201859-353a-48ec-80f0-4efbd0274515	d19f8f3a-2084-4991-b2d4-e42c6747adc5	g.chr6:26031999C>T	ENST00000244661.2	-	1	289	c.290G>A	c.(289-291)tGt>tAt	p.C97Y		NM_003537.3	NP_003528.1	P68431	H31_HUMAN	histone cluster 1, H3b	97					blood coagulation (GO:0007596)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|regulation of gene silencing (GO:0060968)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)			breast(3)|central_nervous_system(10)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|skin(1)	25						GTAGGCCTCACAAGCCTCCTG	0.577																																						ENST00000244661.2																			0				breast(3)|central_nervous_system(10)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|skin(1)	25						c.(289-291)tGt>tAt		histone cluster 1, H3b							72	73	73					6																	26031999		2203	4300	6503	SO:0001583	missense	8358				blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding	g.chr6:26031999C>T	X00090	CCDS4573.1	6p22.1	2011-01-27	2006-10-11	2003-03-14	ENSG00000124693	ENSG00000274267		"Histones / Replication-dependent"	4776	protein-coding gene	gene with protein product		602819	"H3 histone family, member L", "histone 1, H3b"	H3FL		6647026, 9119399, 12408966	Standard	NM_003537		Approved	H3/l	uc003nfs.1	P68431	OTTHUMG00000014415	ENST00000244661.2:c.290G>A	6.37:g.26031999C>T	ENSP00000244661:p.Cys97Tyr						p.C97Y	NM_003537.3	NP_003528.1	P68431	H31_HUMAN			1	289	-			97					A0PJT7|A5PLR1|P02295|P02296|P16106|Q6ISV8|Q6NWP8|Q6NWP9|Q6NXU4|Q71DJ3|Q93081	Missense_Mutation	SNP	ENST00000244661.2	37	c.290G>A	CCDS4573.1	.	.	.	.	.	.	.	.	.	.	c	10.29	1.309339	0.23821	.	.	ENSG00000124693	ENST00000244661	T	0.68479	-0.33	5.07	4.18	0.49190	.	.	.	.	.	T	0.70842	0.3270	.	.	.	0.37093	D	0.899538	.	.	.	.	.	.	T	0.77210	-0.2671	6	0.87932	D	0	.	14.6945	0.69110	0.0:0.8539:0.1461:0.0	.	.	.	.	Y	97	ENSP00000244661:C97Y	ENSP00000244661:C97Y	C	-	2	0	HIST1H3B	26139978	1.000000	0.71417	0.721000	0.30653	0.396000	0.30629	5.825000	0.69286	1.201000	0.43203	0.561000	0.74099	TGT		0.577	HIST1H3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040077.1	NM_003537		5	70	0	0	0	1	0	5	70					T	26031999	C	T	26031999	3	4	413	1	0	0	0	0	1	0	0	0	7156	478	17	3	124	3	HIST1H3B	6	26031999	Missense_Mutation	SNP	C	TCGA-VP-A879-01A-11D-A34U-08		26031999	145083068	17	20017											
GSTA3	2940	broad.mit.edu	37	chr6	52761716	52761716	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tgggcaggttgctgattctgGttttcagggcctgtaattca	6	15	13	7	0	3	1	2	1	1	0	3	1	3	1	1	4	1	5	1	4	1	6			TCGA-VP-A879-01A-11D-A34U-08	TCGA-VP-A879-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff201859-353a-48ec-80f0-4efbd0274515	d19f8f3a-2084-4991-b2d4-e42c6747adc5	g.chr6:52761716G>C	ENST00000211122.3	-	7	622	c.557C>G	c.(556-558)aCc>aGc	p.T186S	GSTA3_ENST00000370968.1_Missense_Mutation_p.T136S	NM_000847.4	NP_000838.3	Q16772	GSTA3_HUMAN	glutathione S-transferase alpha 3	186	GST C-terminal.				glutathione derivative biosynthetic process (GO:1901687)|glutathione metabolic process (GO:0006749)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	glutathione transferase activity (GO:0004364)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(2)	10	Lung NSC(77;0.0912)				Glutathione(DB00143)	GCTGATTCTGGTTTTCAGGGC	0.517																																						ENST00000211122.3																			0				cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(2)	10						c.(556-558)aCc>aGc		glutathione S-transferase alpha 3	Glutathione(DB00143)						82	82	82					6																	52761716		2203	4300	6503	SO:0001583	missense	2940				glutathione metabolic process|xenobiotic metabolic process	cytosol	glutathione transferase activity	g.chr6:52761716G>C	AF020919	CCDS4947.1	6p12.2	2012-06-21	2008-11-26		ENSG00000174156	ENSG00000174156	2.5.1.18	"Glutathione S-transferases / Soluble"	4628	protein-coding gene	gene with protein product		605449	"glutathione S-transferase A3"			8307579, 9480897	Standard	NM_000847		Approved		uc003pbb.3	Q16772	OTTHUMG00000014865	ENST00000211122.3:c.557C>G	6.37:g.52761716G>C	ENSP00000211122:p.Thr186Ser					GSTA3_ENST00000370968.1_Missense_Mutation_p.T136S	p.T186S	NM_000847.4	NP_000838.3	Q16772	GSTA3_HUMAN			7	622	-	Lung NSC(77;0.0912)		186			GST C-terminal.		O43468|Q068V6|Q8WWA8|Q9H415	Missense_Mutation	SNP	ENST00000211122.3	37	c.557C>G	CCDS4947.1	.	.	.	.	.	.	.	.	.	.	G	6.482	0.457029	0.12283	.	.	ENSG00000174156	ENST00000370968;ENST00000211122	T;T	0.03524	3.9;3.9	3.27	1.31	0.21738	Glutathione S-transferase, C-terminal-like (2);Glutathione S-transferase/chloride channel, C-terminal (1);Glutathione S-transferase, C-terminal (1);	0.655219	0.15150	N	0.277787	T	0.01189	0.0039	L	0.39467	1.215	0.20196	N	0.999923	B	0.09022	0.002	B	0.14578	0.011	T	0.44697	-0.9311	10	0.22706	T	0.39	.	12.0474	0.53487	0.0:0.5304:0.4696:0.0	.	186	Q16772	GSTA3_HUMAN	S	136;186	ENSP00000360007:T136S;ENSP00000211122:T186S	ENSP00000211122:T186S	T	-	2	0	GSTA3	52869675	0.008000	0.16893	0.917000	0.36280	0.863000	0.49368	-0.021000	0.12504	0.154000	0.19237	-0.176000	0.13171	ACC		0.517	GSTA3-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040933.1			13	104	0	0	0	1	0	13	104					C	52761716	G	C	52761716	3	2	413	1	0	0	0	0	1	0	0	0	6832	1261	44	5	115	5	GSTA3	6	52761716	Missense_Mutation	SNP	G	TCGA-VP-A879-01A-11D-A34U-08	26729717	52761716	118353351	18	20018											
SNAP91	9892	broad.mit.edu	37	chr6	84290295	84290295	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tggtgccatggttggcatcaAaagatcacctagaccatcaa	13	9	9	10	0	3	2	3	0	0	2	3	2	3	2	3	3	1	2	3	3	4	2	rs564010316		TCGA-VP-A879-01A-11D-A34U-08	TCGA-VP-A879-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff201859-353a-48ec-80f0-4efbd0274515	d19f8f3a-2084-4991-b2d4-e42c6747adc5	g.chr6:84290295A>G	ENST00000439399.2	-	24	2489	c.2173T>C	c.(2173-2175)Ttg>Ctg	p.L725L	SNAP91_ENST00000437520.1_Silent_p.L418L|SNAP91_ENST00000369694.2_Silent_p.L725L|SNAP91_ENST00000521485.1_Silent_p.L720L|SNAP91_ENST00000428679.2_Silent_p.L725L|SNAP91_ENST00000519133.1_5'Flank|SNAP91_ENST00000520302.1_Silent_p.L695L|SNAP91_ENST00000521743.1_Silent_p.L725L|SNAP91_ENST00000195649.6_Silent_p.L720L|SNAP91_ENST00000520213.1_Silent_p.L418L	NM_014841.2	NP_055656.1	O60641	AP180_HUMAN	synaptosomal-associated protein, 91kDa	725					clathrin coat assembly (GO:0048268)|protein transport (GO:0015031)	clathrin coat (GO:0030118)|coated pit (GO:0005905)|plasma membrane (GO:0005886)	1-phosphatidylinositol binding (GO:0005545)|protein kinase binding (GO:0019901)			breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(22)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;2.91e-07)|all_hematologic(105;0.000337)|all_epithelial(107;0.0575)		BRCA - Breast invasive adenocarcinoma(397;0.0967)		GTTGGCATCAAAAGATCACCT	0.433																																						ENST00000428679.2																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(22)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						c.(2173-2175)Ttg>Ctg		synaptosomal-associated protein, 91kDa							78	79	79					6																	84290295		1943	4139	6082	SO:0001819	synonymous_variant	9892				clathrin coat assembly	clathrin coat|coated pit|plasma membrane	1-phosphatidylinositol binding|clathrin binding	g.chr6:84290295A>G	AB014556	CCDS47455.1, CCDS56437.1, CCDS56438.1	6q15	2012-12-07	2012-12-07		ENSG00000065609	ENSG00000065609			14986	protein-coding gene	gene with protein product		607923	"synaptosomal-associated protein, 91 kDa (mouse) homolog", "synaptosomal-associated protein, 91kDa homolog (mouse)"			9734811, 12493563, 10436022	Standard	NM_014841		Approved	KIAA0656, AP180, CALM	uc003pka.3	O60641	OTTHUMG00000015114	ENST00000439399.2:c.2173T>C	6.37:g.84290295A>G						SNAP91_ENST00000437520.1_Silent_p.L418L|SNAP91_ENST00000521743.1_Silent_p.L725L|SNAP91_ENST00000369694.2_Silent_p.L725L|SNAP91_ENST00000439399.2_Silent_p.L725L|SNAP91_ENST00000521485.1_Silent_p.L720L|SNAP91_ENST00000195649.6_Silent_p.L720L|SNAP91_ENST00000520213.1_Silent_p.L418L|SNAP91_ENST00000520302.1_Silent_p.L695L	p.L725L			O60641	AP180_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.0967)	24	2766	-		all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;2.91e-07)|all_hematologic(105;0.000337)|all_epithelial(107;0.0575)	725					A8K0L7|E5RI02|Q5JX13|Q68DL9|Q6P9D3|Q9NTY7	Silent	SNP	ENST00000439399.2	37	c.2173T>C	CCDS47455.1																																																																																				0.433	SNAP91-007	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000375296.1			8	46	0	0	0	1	0	8	46					G	84290295	A	G	84290295	2	3	413	1	0	0	0	0	0	0	0	1	14833	11	1	4		4	SNAP91	6	84290295	Silent	SNP	A	TCGA-VP-A879-01A-11D-A34U-08	31528579	84290295	86824772	19	20019											
DCBLD1	285761	broad.mit.edu	37	chr6	117853502	117853502	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccagatcagtgtgcttcagcGcaaagggatcagtcgatatg	11	9	12	9	2	3	1	3	0	0	1	4	3	3	2	1	1	2	2	1	1	2	2	rs139193542	byFrequency	TCGA-VP-A879-01A-11D-A34U-08	TCGA-VP-A879-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff201859-353a-48ec-80f0-4efbd0274515	d19f8f3a-2084-4991-b2d4-e42c6747adc5	g.chr6:117853502G>A	ENST00000338728.5	+	6	785	c.665G>A	c.(664-666)cGc>cAc	p.R222H	GOPC_ENST00000467125.1_Intron|DCBLD1_ENST00000296955.8_Missense_Mutation_p.R222H|DCBLD1_ENST00000368503.4_Missense_Mutation_p.R222H			Q8N8Z6	DCBD1_HUMAN	discoidin, CUB and LCCL domain containing 1	222	LCCL. {ECO:0000255|PROSITE- ProRule:PRU00123}.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(15)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	26		all_cancers(87;0.171)		GBM - Glioblastoma multiforme(226;0.0447)|OV - Ovarian serous cystadenocarcinoma(136;0.0921)|all cancers(137;0.125)		GTGCTTCAGCGCAAAGGGATC	0.433													G|||	3	0.000599042	0.0023	0	5008	,	,		20071	0		0	False		,,,				2504	0					ENST00000338728.5																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(15)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	26						c.(664-666)cGc>cAc		discoidin, CUB and LCCL domain containing 1		G	HIS/ARG	14,4392	21.2+/-45.6	0,14,2189	231	191	204		665	-5.2	0.1	6	dbSNP_134	204	0,8600		0,0,4300	yes	missense	DCBLD1	NM_173674.1	29	0,14,6489	AA,AG,GG		0.0,0.3177,0.1076	benign	222/540	117853502	14,12992	2203	4300	6503	SO:0001583	missense	285761				cell adhesion	integral to membrane		g.chr6:117853502G>A	AK055462	CCDS34522.1	6q22.31	2003-06-20			ENSG00000164465	ENSG00000164465			21479	protein-coding gene	gene with protein product							Standard	NM_173674		Approved	MGC46341, dJ94G16.1	uc003pxs.3	Q8N8Z6	OTTHUMG00000015455	ENST00000338728.5:c.665G>A	6.37:g.117853502G>A	ENSP00000342422:p.Arg222His					DCBLD1_ENST00000368503.4_Missense_Mutation_p.R222H|DCBLD1_ENST00000296955.8_Missense_Mutation_p.R222H|GOPC_ENST00000467125.1_Intron	p.R222H			Q8N8Z6	DCBD1_HUMAN		GBM - Glioblastoma multiforme(226;0.0447)|OV - Ovarian serous cystadenocarcinoma(136;0.0921)|all cancers(137;0.125)	6	785	+		all_cancers(87;0.171)	222			LCCL.		Q5H992|Q8IYK5|Q8N7L9|Q96NH2	Missense_Mutation	SNP	ENST00000338728.5	37	c.665G>A		1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	10.71	1.428179	0.25726	0.003177	0.0	ENSG00000164465	ENST00000296955;ENST00000368503;ENST00000338728	D;D;D	0.89196	-2.48;-2.48;-2.48	5.53	-5.23	0.02798	LCCL (4);	1.434440	0.03890	N	0.278484	T	0.52533	0.1740	N	0.17082	0.46	0.09310	N	1	B;B	0.09022	0.002;0.002	B;B	0.06405	0.002;0.001	T	0.53606	-0.8415	10	0.13470	T	0.59	0.3062	1.5818	0.02636	0.4557:0.1775:0.1273:0.2395	.	222;222	Q8N8Z6-2;Q8N8Z6	.;DCBD1_HUMAN	H	222	ENSP00000296955:R222H;ENSP00000357489:R222H;ENSP00000342422:R222H	ENSP00000296955:R222H	R	+	2	0	DCBLD1	117960195	0.011000	0.17503	0.130000	0.21974	0.984000	0.73092	-0.109000	0.10840	-0.768000	0.04626	-0.444000	0.05651	CGC		0.433	DCBLD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000041979.2	NM_173674		3	64	0	0	0	1	0	3	64					A	117853502	G	A	117853502	3	1	413	1	0	0	0	0	1	0	0	0	4280	1087	38	1	687	1	DCBLD1	6	117853502	Missense_Mutation	SNP	G	TCGA-VP-A879-01A-11D-A34U-08	33563207	117853502	53261565	20	20020											
C6orf204	387119	broad.mit.edu	37	chr6	118790275	118790275	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaagattaggctccttgccCtgagcacgctgattaagaat	12	10	10	9	1	0	4	0	2	0	2	1	5	1	4	2	1	2	3	2	1	4	3			TCGA-VP-A879-01A-11D-A34U-08	TCGA-VP-A879-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff201859-353a-48ec-80f0-4efbd0274515	d19f8f3a-2084-4991-b2d4-e42c6747adc5	g.chr6:118790275C>T	ENST00000368491.3	-	12	2835	c.2214G>A	c.(2212-2214)caG>caA	p.Q738Q	CEP85L_ENST00000368488.5_Silent_p.Q741Q	NM_001042475.2	NP_001035940.1	Q5SZL2	CE85L_HUMAN	centrosomal protein 85kDa-like	738						centrosome (GO:0005813)|cytoplasm (GO:0005737)											GCTCCTTGCCCTGAGCACGCT	0.368																																						ENST00000368491.3																			0											c.(2212-2214)caG>caA		centrosomal protein 85kDa-like							87	85	86					6																	118790275		1987	4178	6165	SO:0001819	synonymous_variant	387119					centrosome		g.chr6:118790275C>T	AF308284	CCDS5119.2, CCDS43498.1, CCDS55052.1	6q22.31	2011-11-25	2011-11-25	2011-11-25	ENSG00000111860	ENSG00000111860			21638	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 204"	C6orf204			Standard	NM_206921		Approved	NY-BR-15, bA57K17.2	uc003pya.2	Q5SZL2	OTTHUMG00000015465	ENST00000368491.3:c.2214G>A	6.37:g.118790275C>T						CEP85L_ENST00000368488.5_Silent_p.Q741Q	p.Q738Q	NM_001042475.2	NP_001035940.1	Q5SZL2	CF204_HUMAN			12	2835	-			738					A1A4E1|A2A3P2|A2IDE5|F8W6J2|G3V0H3|Q2TAM2|Q5T323|Q7Z5K7|Q9H289	Silent	SNP	ENST00000368491.3	37	c.2214G>A	CCDS43498.1																																																																																				0.368	CEP85L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041996.2	NM_001042475		10	64	0	0	0	1	0	10	64					T	118790275	C	T	118790275	2	4	413	1	0	0	0	0	0	0	0	1	2353	680	24	3		3	C6orf204	6	118790275	Silent	SNP	C	TCGA-VP-A879-01A-11D-A34U-08	936773	118790275	52324792	21	20021											
PKD1L1	168507	broad.mit.edu	37	chr7	47944821	47944821	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cactggtggatcctctccaaAataccactcaaattccaggg	12	9	7	13	0	2	0	1	0	1	0	5	1	4	1	4	3	1	0	4	3	4	2			TCGA-VP-A879-01A-11D-A34U-08	TCGA-VP-A879-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff201859-353a-48ec-80f0-4efbd0274515	d19f8f3a-2084-4991-b2d4-e42c6747adc5	g.chr7:47944821A>C	ENST00000289672.2	-	11	1674	c.1624T>G	c.(1624-1626)Ttt>Gtt	p.F542V		NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	542	PKD 1. {ECO:0000255|PROSITE- ProRule:PRU00151}.				detection of mechanical stimulus (GO:0050982)|detection of nodal flow (GO:0003127)|left/right axis specification (GO:0070986)|single organismal cell-cell adhesion (GO:0016337)	calcium channel complex (GO:0034704)|cilium (GO:0005929)|membrane (GO:0016020)|nonmotile primary cilium (GO:0031513)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)		BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						TCCTCTCCAAAATACCACTCA	0.438																																						ENST00000289672.2																		BBS9/PKD1L1(2)	0				NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						c.(1624-1626)Ttt>Gtt		polycystic kidney disease 1 like 1							143	130	135					7																	47944821		2203	4300	6503	SO:0001583	missense	168507				cell-cell adhesion	integral to membrane		g.chr7:47944821A>C	AB061683	CCDS34633.1	7p12.3	2008-07-18			ENSG00000158683	ENSG00000158683			18053	protein-coding gene	gene with protein product	"polycystin-1L1"	609721				11863367	Standard	NM_138295		Approved	PRO19563	uc003tny.2	Q8TDX9	OTTHUMG00000155649	ENST00000289672.2:c.1624T>G	7.37:g.47944821A>C	ENSP00000289672:p.Phe542Val						p.F542V	NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN			11	1674	-			542			PKD 1.		Q6UWK1	Missense_Mutation	SNP	ENST00000289672.2	37	c.1624T>G	CCDS34633.1	.	.	.	.	.	.	.	.	.	.	A	16.79	3.221313	0.58560	.	.	ENSG00000158683	ENST00000289672	D	0.84146	-1.81	5.07	5.07	0.68467	PKD/Chitinase domain (1);	0.159290	0.29775	N	0.011234	D	0.86339	0.5909	L	0.29908	0.895	0.35739	D	0.818552	D	0.76494	0.999	D	0.63488	0.915	D	0.89692	0.3898	10	0.52906	T	0.07	-15.7949	13.1136	0.59288	1.0:0.0:0.0:0.0	.	542	Q8TDX9	PK1L1_HUMAN	V	542	ENSP00000289672:F542V	ENSP00000289672:F542V	F	-	1	0	PKD1L1	47911346	1.000000	0.71417	0.983000	0.44433	0.429000	0.31625	5.265000	0.65519	2.056000	0.61249	0.529000	0.55759	TTT		0.438	PKD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340974.1	NM_138295		20	89	0	0	0	1	0	20	89					C	47944821	A	C	47944821	3	2	413	1	0	0	0	0	1	0	0	0	11964	14	1	5	7113	5	PKD1L1	7	47944821	Missense_Mutation	SNP	A	TCGA-VP-A879-01A-11D-A34U-08		47944821	111193842	22	20022											
ABCA13	154664	broad.mit.edu	37	chr7	48315425	48315425	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aaaagtgaaacaccttacaaCtttgaagaactatggcccaa	18	8	6	9	0	0	3	0	2	0	1	0	3	0	3	2	1	4	0	2	1	9	3			TCGA-VP-A879-01A-11D-A34U-08	TCGA-VP-A879-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff201859-353a-48ec-80f0-4efbd0274515	d19f8f3a-2084-4991-b2d4-e42c6747adc5	g.chr7:48315425C>A	ENST00000435803.1	+	17	6186	c.6162C>A	c.(6160-6162)aaC>aaA	p.N2054K		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	2054					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						CACCTTACAACTTTGAAGAAC	0.343																																						ENST00000435803.1																			0				breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						c.(6160-6162)aaC>aaA		ATP-binding cassette, sub-family A (ABC1), member 13							40	38	39					7																	48315425		1822	4085	5907	SO:0001583	missense	154664				transport	integral to membrane	ATP binding|ATPase activity	g.chr7:48315425C>A	AY204751	CCDS47584.1	7p12.3	2012-03-14			ENSG00000179869	ENSG00000179869		"ATP binding cassette transporters / subfamily A"	14638	protein-coding gene	gene with protein product		607807				12697998	Standard	NM_152701		Approved	FLJ33876, FLJ33951	uc003toq.2	Q86UQ4	OTTHUMG00000155840	ENST00000435803.1:c.6162C>A	7.37:g.48315425C>A	ENSP00000411096:p.Asn2054Lys						p.N2054K	NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN			17	6186	+			2054					K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Missense_Mutation	SNP	ENST00000435803.1	37	c.6162C>A	CCDS47584.1	.	.	.	.	.	.	.	.	.	.	C	8.645	0.896855	0.17686	.	.	ENSG00000179869	ENST00000435803	T	0.10573	2.86	4.65	-0.886	0.10590	.	0.532367	0.16919	N	0.194141	T	0.05593	0.0147	L	0.39633	1.23	0.09310	N	1	P	0.34462	0.454	B	0.24974	0.057	T	0.30208	-0.9986	9	.	.	.	.	1.9436	0.03352	0.2706:0.4342:0.1322:0.1629	.	2054	Q86UQ4	ABCAD_HUMAN	K	2054	ENSP00000411096:N2054K	.	N	+	3	2	ABCA13	48285971	0.000000	0.05858	0.000000	0.03702	0.228000	0.25075	-0.114000	0.10757	0.126000	0.18424	0.484000	0.47621	AAC		0.343	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341964.2	NM_152701		4	32	1	0	0.014758	1	0.0159546	4	32					A	48315425	C	A	48315425	3	1	413	1	0	0	0	0	1	0	0	0	31	564	20	5	6057	5	ABCA13	7	48315425	Missense_Mutation	SNP	C	TCGA-VP-A879-01A-11D-A34U-08	370604	48315425	110823238	23	20023											
COBL	23242	broad.mit.edu	37	chr7	51096535	51096535	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctgcttcaggcacagacgaaGacagggaaatgatcctgatg	13	7	12	9	1	1	4	1	2	0	2	2	6	2	5	1	2	1	2	1	2	2	1	rs374580746		TCGA-VP-A879-01A-11D-A34U-08	TCGA-VP-A879-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff201859-353a-48ec-80f0-4efbd0274515	d19f8f3a-2084-4991-b2d4-e42c6747adc5	g.chr7:51096535G>C	ENST00000265136.7	-	10	2423	c.2258C>G	c.(2257-2259)tCt>tGt	p.S753C	COBL_ENST00000395542.2_Missense_Mutation_p.S835C	NM_015198.3	NP_056013.2	O75128	COBL_HUMAN	cordon-bleu WH2 repeat protein	753					actin filament network formation (GO:0051639)|actin filament polymerization (GO:0030041)|collateral sprouting in absence of injury (GO:0048669)|digestive tract development (GO:0048565)|embryonic axis specification (GO:0000578)|floor plate development (GO:0033504)|liver development (GO:0001889)|neural tube closure (GO:0001843)|notochord development (GO:0030903)|positive regulation of dendrite development (GO:1900006)|somite specification (GO:0001757)	actin filament (GO:0005884)|axon (GO:0030424)|axonal growth cone (GO:0044295)|cell cortex (GO:0005938)|dendrite (GO:0030425)|dendritic growth cone (GO:0044294)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	actin monomer binding (GO:0003785)			NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Glioma(55;0.08)					CACAGACGAAGACAGGGAAAT	0.547																																					NSCLC(189;2119 2138 12223 30818 34679)	ENST00000395542.2																			0				NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	65						c.(2503-2505)tCt>tGt		cordon-bleu WH2 repeat protein		G	CYS/SER	0,4406		0,0,2203	73	65	68		2258	1.3	0	7		68	1,8599	1.2+/-3.3	0,1,4299	no	missense	COBL	NM_015198.3	112	0,1,6502	CC,CG,GG		0.0116,0.0,0.0077	probably-damaging	753/1262	51096535	1,13005	2203	4300	6503	SO:0001583	missense	23242							g.chr7:51096535G>C	AB014533	CCDS34637.1, CCDS75601.1, CCDS75602.1	7p12.2-p12.1	2012-12-07	2012-12-07		ENSG00000106078	ENSG00000106078			22199	protein-coding gene	gene with protein product		610317	"cordon-bleu homolog (mouse)"				Standard	NM_015198		Approved	KIAA0633	uc003tpr.4	O75128	OTTHUMG00000155999	ENST00000265136.7:c.2258C>G	7.37:g.51096535G>C	ENSP00000265136:p.Ser753Cys					COBL_ENST00000265136.7_Missense_Mutation_p.S753C	p.S835C			O75128	COBL_HUMAN			12	2688	-	Glioma(55;0.08)		753					A4D257|A7E2B0|B7ZLW9|B9EGF8|Q2T9J3|Q504Y4|Q86XA7|Q8N304|Q8TCM1	Missense_Mutation	SNP	ENST00000265136.7	37	c.2504C>G	CCDS34637.1	.	.	.	.	.	.	.	.	.	.	G	15.33	2.801933	0.50315	0.0	1.16E-4	ENSG00000106078	ENST00000265136;ENST00000445054;ENST00000431948;ENST00000395542	T;T;T;T	0.12984	2.65;2.64;2.63;2.63	5.61	1.31	0.21738	.	1.854190	0.02911	N	0.136718	T	0.24160	0.0585	L	0.34521	1.04	0.09310	N	1	D;D;D;D;D	0.76494	0.992;0.992;0.993;0.992;0.999	P;P;P;P;D	0.63192	0.719;0.719;0.628;0.719;0.912	T	0.17258	-1.0375	10	0.56958	D	0.05	.	6.343	0.21332	0.0745:0.325:0.4881:0.1123	.	753;810;753;835;295	O75128-3;O75128-7;O75128;O75128-2;O75128-6	.;.;COBL_HUMAN;.;.	C	753;645;638;835	ENSP00000265136:S753C;ENSP00000401204:S645C;ENSP00000413498:S638C;ENSP00000378912:S835C	ENSP00000265136:S753C	S	-	2	0	COBL	51064029	0.001000	0.12720	0.000000	0.03702	0.003000	0.03518	0.507000	0.22675	0.663000	0.31027	0.655000	0.94253	TCT		0.547	COBL-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000342682.1	NM_015198		18	44	0	0	0	1	0	18	44					C	51096535	G	C	51096535	3	2	413	1	0	0	0	0	1	0	0	0	3653	942	33	5	1543	5	COBL	7	51096535	Missense_Mutation	SNP	G	TCGA-VP-A879-01A-11D-A34U-08	2781110	51096535	108042128	24	20024											
MUC17	140453	broad.mit.edu	37	chr7	100681373	100681373	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gcactccattcacaagtatgCctgtcagcaccatgccggta	10	9	8	14	1	2	0	2	0	0	0	3	0	3	0	4	1	3	4	4	1	3	3	rs144624588		TCGA-VP-A879-01A-11D-A34U-08	TCGA-VP-A879-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff201859-353a-48ec-80f0-4efbd0274515	d19f8f3a-2084-4991-b2d4-e42c6747adc5	g.chr7:100681373C>T	ENST00000306151.4	+	3	6740	c.6676C>T	c.(6676-6678)Cct>Tct	p.P2226S		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	2226	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)	p.P2226T(1)		NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CACAAGTATGCCTGTCAGCAC	0.502																																						ENST00000306151.4																			1	Substitution - Missense(1)	p.P2226T(1)	lung(1)	NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343						c.(6676-6678)Cct>Tct		mucin 17, cell surface associated		C	SER/PRO	0,4406		0,0,2203	356	350	352		6676	-0.1	0	7	dbSNP_134	352	1,8599	1.2+/-3.3	0,1,4299	no	missense	MUC17	NM_001040105.1	74	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	2226/4494	100681373	1,13005	2203	4300	6503	SO:0001583	missense	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100681373C>T	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"Mucins"	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.6676C>T	7.37:g.100681373C>T	ENSP00000302716:p.Pro2226Ser						p.P2226S	NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN			3	6740	+	Lung NSC(181;0.136)|all_lung(186;0.182)		2226			59 X approximate tandem repeats.|Ser-rich.		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	c.6676C>T	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	C	0.011	-1.740195	0.00675	0.0	1.16E-4	ENSG00000169876	ENST00000306151	T	0.03152	4.03	0.0465	-0.093	0.13652	.	.	.	.	.	T	0.02119	0.0066	L	0.29908	0.895	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.50215	-0.8854	8	0.06625	T	0.88	.	.	.	.	.	2226	Q685J3	MUC17_HUMAN	S	2226	ENSP00000302716:P2226S	ENSP00000302716:P2226S	P	+	1	0	MUC17	100468093	0.000000	0.05858	0.004000	0.12327	0.002000	0.02628	-1.188000	0.03064	-1.381000	0.02112	-1.368000	0.01194	CCT		0.502	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		5	636	0	0	0	1	0	5	636					T	100681373	C	T	100681373	3	4	413	1	0	0	0	0	1	0	0	0	9974	739	26	3	6686	3	MUC17	7	100681373	Missense_Mutation	SNP	C	TCGA-VP-A879-01A-11D-A34U-08	49584838	100681373	58457290	25	20025											
PMP2	5375	broad.mit.edu	37	chr8	82355665	82355665	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atagattctggtgcacaccaCgcccttcattttacattcct	9	14	5	13	1	2	1	1	0	1	1	3	1	3	1	3	1	2	1	3	1	2	6			TCGA-VP-A879-01A-11D-A34U-08	TCGA-VP-A879-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff201859-353a-48ec-80f0-4efbd0274515	d19f8f3a-2084-4991-b2d4-e42c6747adc5	g.chr8:82355665C>T	ENST00000256103.2	-	4	503	c.367G>A	c.(367-369)Gtg>Atg	p.V123M	PMP2_ENST00000519260.1_3'UTR|RP11-157I4.4_ENST00000524085.2_RNA	NM_002677.3	NP_002668.1	P02689	MYP2_HUMAN	peripheral myelin protein 2	123					membrane organization (GO:0061024)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	cholesterol binding (GO:0015485)|fatty acid binding (GO:0005504)|transporter activity (GO:0005215)			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)	6			Epithelial(68;0.186)			GTGCACACCACGCCCTTCATT	0.313																																						ENST00000256103.2																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(3)	6						c.(367-369)Gtg>Atg		peripheral myelin protein 2							103	103	103					8																	82355665		2203	4297	6500	SO:0001583	missense	5375					cytoplasm	cholesterol binding|fatty acid binding|transporter activity	g.chr8:82355665C>T	X62167	CCDS6229.1	8q21.3-q22.1	2013-03-01			ENSG00000147588	ENSG00000147588		"Fatty acid binding protein family"	9117	protein-coding gene	gene with protein product		170715				1720307, 8288226	Standard	NM_002677		Approved	MP2, FABP8, M-FABP	uc003ycb.1	P02689	OTTHUMG00000164600	ENST00000256103.2:c.367G>A	8.37:g.82355665C>T	ENSP00000256103:p.Val123Met					RP11-157I4.4_ENST00000524085.2_RNA|PMP2_ENST00000519260.1_3'UTR	p.V123M	NM_002677.3	NP_002668.1	P02689	MYP2_HUMAN	Epithelial(68;0.186)		4	503	-			123					Q6FHL4	Missense_Mutation	SNP	ENST00000256103.2	37	c.367G>A	CCDS6229.1	.	.	.	.	.	.	.	.	.	.	C	19.35	3.810970	0.70797	.	.	ENSG00000147588	ENST00000256103	T	0.09350	2.99	5.29	4.37	0.52481	Calycin-like (1);Cytosolic fatty-acid binding (1);Lipocalin/cytosolic fatty-acid binding protein domain (1);Calycin (1);	0.062187	0.64402	D	0.000004	T	0.33818	0.0876	M	0.90082	3.085	0.80722	D	1	D	0.58970	0.984	P	0.59643	0.861	T	0.30446	-0.9978	10	0.87932	D	0	.	10.7465	0.46183	0.0:0.9048:0.0:0.0952	.	123	P02689	MYP2_HUMAN	M	123	ENSP00000256103:V123M	ENSP00000256103:V123M	V	-	1	0	PMP2	82518220	0.003000	0.15002	0.977000	0.42913	0.968000	0.65278	0.431000	0.21444	1.302000	0.44855	0.585000	0.79938	GTG		0.313	PMP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379365.1	NM_002677		5	148	0	0	0	1	0	5	148					T	82355665	C	T	82355665	3	4	413	1	0	0	0	0	1	0	0	0	12138	536	19	1	35	1	PMP2	8	82355665	Missense_Mutation	SNP	C	TCGA-VP-A879-01A-11D-A34U-08		82355665	64008357	26	20026											
ZFAND1	79752	broad.mit.edu	37	chr8	82626245	82626245	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atttttggcacctttccatcGtttacttgctgtttctcctg	4	20	6	11	1	1	0	0	0	1	0	4	0	2	0	3	1	2	4	3	1	1	7			TCGA-VP-A879-01A-11D-A34U-08	TCGA-VP-A879-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff201859-353a-48ec-80f0-4efbd0274515	d19f8f3a-2084-4991-b2d4-e42c6747adc5	g.chr8:82626245G>A	ENST00000220669.5	-	6	406	c.388C>T	c.(388-390)Cga>Tga	p.R130*	ZFAND1_ENST00000521287.1_Nonsense_Mutation_p.R23*|ZFAND1_ENST00000519523.1_Nonsense_Mutation_p.R130*|ZFAND1_ENST00000521895.1_Nonsense_Mutation_p.R23*|ZFAND1_ENST00000523096.1_Nonsense_Mutation_p.R130*|ZFAND1_ENST00000522520.1_Nonsense_Mutation_p.R23*|ZFAND1_ENST00000517588.1_Nonsense_Mutation_p.R23*	NM_024699.2	NP_078975.2	Q8TCF1	ZFAN1_HUMAN	zinc finger, AN1-type domain 1	130							zinc ion binding (GO:0008270)	p.R130*(3)		kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13						CCTTTCCATCGTTTACTTGCT	0.343																																						ENST00000220669.5																			3	Substitution - Nonsense(3)	p.R130*(3)	lung(1)|ovary(1)|prostate(1)	kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13						c.(388-390)Cga>Tga		zinc finger, AN1-type domain 1							187	158	168					8																	82626245		2203	4299	6502	SO:0001587	stop_gained	79752						zinc ion binding	g.chr8:82626245G>A		CCDS6232.1, CCDS55250.1, CCDS55251.1	8q21.13	2006-07-07						"Zinc fingers, AN1-type domain containing"	25858	protein-coding gene	gene with protein product						12477932	Standard	NM_024699		Approved	FLJ14007	uc003ycj.2	Q8TCF1		ENST00000220669.5:c.388C>T	8.37:g.82626245G>A	ENSP00000220669:p.Arg130*					ZFAND1_ENST00000521287.1_Nonsense_Mutation_p.R23*|ZFAND1_ENST00000522520.1_Nonsense_Mutation_p.R23*|ZFAND1_ENST00000521895.1_Nonsense_Mutation_p.R23*|ZFAND1_ENST00000517588.1_Nonsense_Mutation_p.R23*|ZFAND1_ENST00000519523.1_Nonsense_Mutation_p.R130*|ZFAND1_ENST00000523096.1_Nonsense_Mutation_p.R130*	p.R130*	NM_024699.2	NP_078975.2	Q8TCF1	ZFAN1_HUMAN			6	406	-			130					E5RIG0|E5RJ99|Q658R7|Q6IA32|Q6PGQ6|Q9H810	Nonsense_Mutation	SNP	ENST00000220669.5	37	c.388C>T	CCDS6232.1	.	.	.	.	.	.	.	.	.	.	G	29.0	4.970302	0.92919	.	.	ENSG00000104231	ENST00000523096;ENST00000220669;ENST00000522520;ENST00000521895;ENST00000521287;ENST00000520635;ENST00000517588;ENST00000519523;ENST00000520604;ENST00000523361;ENST00000517450;ENST00000521742;ENST00000518419;ENST00000520076	.	.	.	5.78	2.72	0.32119	.	0.330492	0.31495	N	0.007556	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.08381	T	0.77	.	11.0672	0.47982	0.0:0.4208:0.4368:0.1425	.	.	.	.	X	130;130;23;23;23;23;23;130;23;23;23;23;23;23	.	ENSP00000220669:R130X	R	-	1	2	ZFAND1	82788800	1.000000	0.71417	0.984000	0.44739	0.995000	0.86356	2.483000	0.45233	0.725000	0.32318	0.650000	0.86243	CGA		0.343	ZFAND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379739.1	NM_024699		4	71	0	0	0	1	0	4	71					A	82626245	G	A	82626245	4	1	413	1	0	0	0	0	0	1	0	0	17623	1153	40	1	478	1	ZFAND1	8	82626245	Nonsense_Mutation	SNP	G	TCGA-VP-A879-01A-11D-A34U-08	270580	82626245	63737777	27	20027											
TG	7038	broad.mit.edu	37	chr8	134030207	134030207	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttccaggcaccagagcccttGaactggacaggctcctggga	9	7	12	13	0	0	2	0	1	0	1	2	4	2	4	4	4	2	2	4	4	1	2			TCGA-VP-A879-01A-11D-A34U-08	TCGA-VP-A879-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff201859-353a-48ec-80f0-4efbd0274515	d19f8f3a-2084-4991-b2d4-e42c6747adc5	g.chr8:134030207G>C	ENST00000220616.4	+	38	6787	c.6747G>C	c.(6745-6747)ttG>ttC	p.L2249F	TG_ENST00000519543.1_Missense_Mutation_p.L382F|TG_ENST00000522523.1_3'UTR|TG_ENST00000542445.1_Missense_Mutation_p.L619F|TG_ENST00000377869.1_Missense_Mutation_p.L2192F	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	2249					hormone biosynthetic process (GO:0042446)|iodide transport (GO:0015705)|regulation of myelination (GO:0031641)|signal transduction (GO:0007165)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular region (GO:0005576)|extracellular space (GO:0005615)				NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		CAGAGCCCTTGAACTGGACAG	0.552																																						ENST00000220616.4																			0				NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168						c.(6745-6747)ttG>ttC		thyroglobulin							37	35	36					8																	134030207		2203	4300	6503	SO:0001583	missense	7038				hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity	g.chr8:134030207G>C	AU141420	CCDS34944.1	8q24	2012-10-02			ENSG00000042832	ENSG00000042832			11764	protein-coding gene	gene with protein product		188450					Standard	NM_003235		Approved	TGN, AITD3	uc003ytw.3	P01266	OTTHUMG00000164649	ENST00000220616.4:c.6747G>C	8.37:g.134030207G>C	ENSP00000220616:p.Leu2249Phe					TG_ENST00000522523.1_3'UTR|TG_ENST00000519543.1_Missense_Mutation_p.L382F|TG_ENST00000377869.1_Missense_Mutation_p.L2192F|TG_ENST00000542445.1_Missense_Mutation_p.L619F	p.L2249F	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)	38	6787	+	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	2249					O15274|O43899|Q15593|Q15948|Q9NYR1|Q9NYR2|Q9UMZ0|Q9UNY3	Missense_Mutation	SNP	ENST00000220616.4	37	c.6747G>C	CCDS34944.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	10.02|10.02	1.237447|1.237447	0.22711|0.22711	.|.	.|.	ENSG00000042832|ENSG00000042832	ENST00000519178|ENST00000377869;ENST00000543313;ENST00000220616;ENST00000542445;ENST00000519543	.|T;T;T;T	.|0.60672	.|0.17;0.17;0.17;0.17	5.38|5.38	3.43|3.43	0.39272|0.39272	.|Carboxylesterase, type B (1);	.|0.934757	.|0.08978	.|N	.|0.866271	T|T	0.47097|0.47097	0.1427|0.1427	L|L	0.41356|0.41356	1.27|1.27	0.35419|0.35419	D|D	0.793108|0.793108	.|B;B;B	.|0.13594	.|0.004;0.002;0.008	.|B;B;B	.|0.18561	.|0.01;0.005;0.022	T|T	0.48175|0.48175	-0.9058|-0.9058	5|10	.|0.26408	.|T	.|0.33	.|.	7.8316|7.8316	0.29347|0.29347	0.0:0.1675:0.6354:0.1971|0.0:0.1675:0.6354:0.1971	.|.	.|382;619;2249	.|E7EVM0;F5GWW5;P01266	.|.;.;THYG_HUMAN	Q|F	705|2192;1055;2249;619;382	.|ENSP00000367100:L2192F;ENSP00000220616:L2249F;ENSP00000441693:L619F;ENSP00000430430:L382F	.|ENSP00000220616:L2249F	E|L	+|+	1|3	0|2	TG|TG	134099389|134099389	0.745000|0.745000	0.28261|0.28261	0.996000|0.996000	0.52242|0.52242	0.975000|0.975000	0.68041|0.68041	0.525000|0.525000	0.22956|0.22956	1.478000|1.478000	0.48253|0.48253	0.655000|0.655000	0.94253|0.94253	GAA|TTG		0.552	TG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379606.1	NM_003235		14	30	0	0	0	1	0	14	30					C	134030207	G	C	134030207	3	2	413	1	0	0	0	0	1	0	0	0	15810	1281	45	5	6897	5	TG	8	134030207	Missense_Mutation	SNP	G	TCGA-VP-A879-01A-11D-A34U-08	51403962	134030207	12333815	28	20028											
PTPRD	5789	broad.mit.edu	37	chr9	8636728	8636728	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgattgctgactttctttcCttttttgttccagacaattt	6	21	5	9	0	1	3	0	2	1	1	3	3	3	3	2	0	1	2	2	0	1	8			TCGA-VP-A879-01A-11D-A34U-08	TCGA-VP-A879-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff201859-353a-48ec-80f0-4efbd0274515	d19f8f3a-2084-4991-b2d4-e42c6747adc5	g.chr9:8636728C>A	ENST00000381196.4	-	10	724	c.181G>T	c.(181-183)Gga>Tga	p.G61*	PTPRD_ENST00000356435.5_Nonsense_Mutation_p.G61*|PTPRD_ENST00000397606.3_Nonsense_Mutation_p.G61*|PTPRD_ENST00000540109.1_Nonsense_Mutation_p.G61*|PTPRD_ENST00000397611.3_Nonsense_Mutation_p.G61*|PTPRD_ENST00000463477.1_Nonsense_Mutation_p.G61*|PTPRD_ENST00000537002.1_Nonsense_Mutation_p.G61*|PTPRD_ENST00000360074.4_Nonsense_Mutation_p.G61*|PTPRD_ENST00000358503.5_Nonsense_Mutation_p.G61*|PTPRD_ENST00000355233.5_Nonsense_Mutation_p.G61*|PTPRD_ENST00000486161.1_Nonsense_Mutation_p.G61*|PTPRD_ENST00000397617.3_Nonsense_Mutation_p.G61*	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	61	Ig-like C2-type 1.				heterophilic cell-cell adhesion (GO:0007157)|neuron differentiation (GO:0030182)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|positive regulation of dendrite morphogenesis (GO:0050775)|presynaptic membrane assembly (GO:0097105)|protein dephosphorylation (GO:0006470)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	cell adhesion molecule binding (GO:0050839)|receptor binding (GO:0005102)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		ACTTTCTTTCCTTTTTTGTTC	0.453										TSP Lung(15;0.13)																												ENST00000381196.4																			0				NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168						c.(181-183)Gga>Tga		protein tyrosine phosphatase, receptor type, D							130	122	125					9																	8636728		2203	4300	6503	SO:0001587	stop_gained	5789				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr9:8636728C>A	X54133	CCDS6472.1, CCDS43786.1, CCDS6472.2, CCDS55288.1, CCDS55289.1, CCDS55290.1, CCDS75813.1	9p24.1-p23	2013-02-11			ENSG00000153707	ENSG00000153707		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	9668	protein-coding gene	gene with protein product		601598				7896816, 8355697	Standard	NM_002839		Approved	PTPD, HPTP	uc003zkk.3	P23468	OTTHUMG00000021005	ENST00000381196.4:c.181G>T	9.37:g.8636728C>A	ENSP00000370593:p.Gly61*	TSP Lung(15;0.13)				PTPRD_ENST00000540109.1_Nonsense_Mutation_p.G61*|PTPRD_ENST00000397611.3_Nonsense_Mutation_p.G61*|PTPRD_ENST00000360074.4_Nonsense_Mutation_p.G61*|PTPRD_ENST00000358503.5_Nonsense_Mutation_p.G61*|PTPRD_ENST00000486161.1_Nonsense_Mutation_p.G61*|PTPRD_ENST00000356435.5_Nonsense_Mutation_p.G61*|PTPRD_ENST00000355233.5_Nonsense_Mutation_p.G61*|PTPRD_ENST00000397606.3_Nonsense_Mutation_p.G61*|PTPRD_ENST00000463477.1_Nonsense_Mutation_p.G61*|PTPRD_ENST00000397617.3_Nonsense_Mutation_p.G61*|PTPRD_ENST00000537002.1_Nonsense_Mutation_p.G61*	p.G61*	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)	10	724	-		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)	61			Ig-like C2-type 1.		B1ALA0|F5GWT7|Q3KPJ0|Q3KPJ1|Q3KPJ2	Nonsense_Mutation	SNP	ENST00000381196.4	37	c.181G>T	CCDS43786.1	.	.	.	.	.	.	.	.	.	.	C	37	6.000602	0.97189	.	.	ENSG00000153707	ENST00000381196;ENST00000356435;ENST00000360074;ENST00000358503;ENST00000355233;ENST00000397617;ENST00000397611;ENST00000537002;ENST00000346816;ENST00000540109;ENST00000486161;ENST00000397606;ENST00000463477;ENST00000481079	.	.	.	5.57	5.57	0.84162	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.5464	0.95299	0.0:1.0:0.0:0.0	.	.	.	.	X	61	.	.	G	-	1	0	PTPRD	8626728	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.776000	0.85560	2.615000	0.88500	0.557000	0.71058	GGA		0.453	PTPRD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055395.3			12	109	1	0	1.08611e-07	1	1.22378e-07	12	109					A	8636728	C	A	8636728	4	1	413	1	0	0	0	0	0	1	0	0	12799	690	24	5	5761	5	PTPRD	9	8636728	Nonsense_Mutation	SNP	C	TCGA-VP-A879-01A-11D-A34U-08		8636728	132576703	29	20029											
UBAP2	55833	broad.mit.edu	37	chr9	33986782	33986782	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	accccgggctcgcttgccacGatctgaaggtttgtccactt	6	11	10	14	3	1	1	0	1	1	0	3	2	2	1	4	2	1	3	4	2	1	3	rs199847092		TCGA-VP-A879-01A-11D-A34U-08	TCGA-VP-A879-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff201859-353a-48ec-80f0-4efbd0274515	d19f8f3a-2084-4991-b2d4-e42c6747adc5	g.chr9:33986782G>A	ENST00000379238.1	-	6	613	c.496C>T	c.(496-498)Cgt>Tgt	p.R166C	UBAP2_ENST00000360802.1_Missense_Mutation_p.R166C|UBAP2_ENST00000539807.1_Intron|UBAP2_ENST00000379239.4_5'UTR|UBAP2_ENST00000449054.1_Missense_Mutation_p.R166C|UBAP2_ENST00000418786.2_Missense_Mutation_p.R166C					ubiquitin associated protein 2											endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(13)|ovary(3)|stomach(1)	32			LUSC - Lung squamous cell carcinoma(29;0.00575)	GBM - Glioblastoma multiforme(74;0.168)		CGCTTGCCACGATCTGAAGGT	0.453																																						ENST00000379238.1																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(13)|ovary(3)|stomach(1)	32						c.(496-498)Cgt>Tgt		ubiquitin associated protein 2							288	291	290					9																	33986782		2203	4300	6503	SO:0001583	missense	55833							g.chr9:33986782G>A	AB040924	CCDS6547.1, CCDS75828.1	9p11.2	2008-02-05			ENSG00000137073	ENSG00000137073			14185	protein-coding gene	gene with protein product						8871400	Standard	NM_018449		Approved	KIAA1491, bA176F3.5, FLJ22435	uc003ztq.1	Q5T6F2	OTTHUMG00000000427	ENST00000379238.1:c.496C>T	9.37:g.33986782G>A	ENSP00000368540:p.Arg166Cys					UBAP2_ENST00000418786.2_Missense_Mutation_p.R166C|UBAP2_ENST00000449054.1_Missense_Mutation_p.R166C|UBAP2_ENST00000360802.1_Missense_Mutation_p.R166C|UBAP2_ENST00000379239.4_5'UTR|UBAP2_ENST00000539807.1_Intron	p.R166C			Q5T6F2	UBAP2_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.00575)	GBM - Glioblastoma multiforme(74;0.168)	6	613	-			166						Missense_Mutation	SNP	ENST00000379238.1	37	c.496C>T	CCDS6547.1	.	.	.	.	.	.	.	.	.	.	G	23.3	4.395582	0.83011	.	.	ENSG00000137073	ENST00000379238;ENST00000449054;ENST00000360802;ENST00000431417;ENST00000379260;ENST00000418786;ENST00000412543;ENST00000421278	T;T;T;T;T	0.32988	1.43;1.43;1.43;1.43;1.43	5.59	4.7	0.59300	.	0.052888	0.85682	D	0.000000	T	0.58352	0.2116	M	0.83483	2.645	0.80722	D	1	B;D;B;D;D	0.89917	0.391;1.0;0.131;1.0;1.0	B;D;B;D;D	0.76575	0.067;0.988;0.023;0.973;0.98	T	0.64909	-0.6296	10	0.62326	D	0.03	-1.2398	14.4495	0.67374	0.0708:0.0:0.9292:0.0	.	166;91;128;91;166	E7EWG4;F5H4D5;F5H2C8;B4DH66;Q5T6F2	.;.;.;.;UBAP2_HUMAN	C	166;166;166;128;106;166;166;42	ENSP00000368540:R166C;ENSP00000416932:R166C;ENSP00000354039:R166C;ENSP00000404436:R166C;ENSP00000414800:R166C	ENSP00000354039:R166C	R	-	1	0	UBAP2	33976782	1.000000	0.71417	0.986000	0.45419	0.989000	0.77384	5.717000	0.68446	1.366000	0.46076	0.561000	0.74099	CGT		0.453	UBAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001071.1	NM_018449		11	240	0	0	0	1	0	11	240					A	33986782	G	A	33986782	3	1	413	1	0	0	0	0	1	0	0	0	16834	1058	37	2	2959	2	UBAP2	9	33986782	Missense_Mutation	SNP	G	TCGA-VP-A879-01A-11D-A34U-08	25350054	33986782	107226649	30	20030											
CYLC2	1539	broad.mit.edu	37	chr9	105767017	105767017	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aagaggagatcgtagacaacCattatggatgtaccgttctt	13	11	10	7	2	1	3	0	0	1	3	2	5	1	4	2	2	2	3	2	2	5	5	rs188765977		TCGA-VP-A879-01A-11D-A34U-08	TCGA-VP-A879-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff201859-353a-48ec-80f0-4efbd0274515	d19f8f3a-2084-4991-b2d4-e42c6747adc5	g.chr9:105767017C>A	ENST00000374798.3	+	4	291	c.221C>A	c.(220-222)cCa>cAa	p.P74Q	CYLC2_ENST00000487798.1_Missense_Mutation_p.P74Q	NM_001340.3	NP_001331.1	Q14093	CYLC2_HUMAN	cylicin, basic protein of sperm head cytoskeleton 2	74	31 X 3 AA repeats of K-K-X.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)	41		all_hematologic(171;0.125)				CGTAGACAACCATTATGGATG	0.378													C|||	1	0.000199681	0	0	5008	,	,		15253	0		0.001	False		,,,				2504	0					ENST00000374798.3																			0				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)	41						c.(220-222)cCa>cAa		cylicin, basic protein of sperm head cytoskeleton 2							85	81	83					9																	105767017		2203	4300	6503	SO:0001583	missense	1539				cell differentiation|multicellular organismal development|spermatogenesis	cytoskeletal calyx	structural constituent of cytoskeleton	g.chr9:105767017C>A	Z46788	CCDS35085.1	9q31.2	2008-07-21			ENSG00000155833	ENSG00000155833			2583	protein-coding gene	gene with protein product		604035				7737358	Standard	NM_001340		Approved		uc004bbs.2	Q14093	OTTHUMG00000020396	ENST00000374798.3:c.221C>A	9.37:g.105767017C>A	ENSP00000420256:p.Pro74Gln					CYLC2_ENST00000487798.1_Missense_Mutation_p.P74Q	p.P74Q	NM_001340.3	NP_001331.1	Q14093	CYLC2_HUMAN			4	291	+		all_hematologic(171;0.125)	74			31 X 3 AA repeats of K-K-X.		B2R8F4|Q5VVJ9	Missense_Mutation	SNP	ENST00000374798.3	37	c.221C>A	CCDS35085.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	16.71	3.197866	0.58126	.	.	ENSG00000155833	ENST00000374798;ENST00000487798	T;T	0.23552	1.9;1.9	4.53	4.53	0.55603	.	0.000000	0.42964	D	0.000636	T	0.48466	0.1501	M	0.71581	2.175	0.34192	D	0.672217	D	0.89917	1.0	D	0.80764	0.994	T	0.62784	-0.6781	10	0.66056	D	0.02	-21.7515	12.9751	0.58532	0.0:1.0:0.0:0.0	.	74	Q14093	CYLC2_HUMAN	Q	74	ENSP00000420256:P74Q;ENSP00000417674:P74Q	ENSP00000420256:P74Q	P	+	2	0	CYLC2	104806838	0.767000	0.28508	0.953000	0.39169	0.664000	0.39144	3.221000	0.51215	2.511000	0.84671	0.591000	0.81541	CCA		0.378	CYLC2-001	KNOWN	alternative_3_UTR|NMD_exception|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000053463.3	NM_001340		17	50	1	0	1.67942e-08	1	1.91933e-08	17	50					A	105767017	C	A	105767017	3	1	413	1	0	0	0	0	1	0	0	0	4142	594	21	5	235	5	CYLC2	9	105767017	Missense_Mutation	SNP	C	TCGA-VP-A879-01A-11D-A34U-08	71780235	105767017	35446414	31	20031											
EDF1	8721	broad.mit.edu	37	chr9	139760662	139760662	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tttggcctgggcggccgtagGgcccttcttgcgcagcaccg	3	9	15	14	4	1	0	0	0	1	0	1	0	1	0	4	4	2	3	4	4	1	4			TCGA-VP-A879-01A-11D-A34U-08	TCGA-VP-A879-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff201859-353a-48ec-80f0-4efbd0274515	d19f8f3a-2084-4991-b2d4-e42c6747adc5	g.chr9:139760662G>T	ENST00000224073.1	-	1	76	c.49C>A	c.(49-51)Cct>Act	p.P17T	EDF1_ENST00000371648.4_Missense_Mutation_p.P17T|EDF1_ENST00000371649.1_Missense_Mutation_p.P17T	NM_003792.2	NP_003783.1	O60869	EDF1_HUMAN	endothelial differentiation-related factor 1	17					endothelial cell differentiation (GO:0045446)|multicellular organismal development (GO:0007275)|positive regulation of DNA binding (GO:0043388)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of lipid metabolic process (GO:0019216)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)			lung(1)	1	all_cancers(76;0.0841)|all_epithelial(76;0.217)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;1.52e-05)|Epithelial(140;0.000171)		GCGGCCGTAGGGCCCTTCTTG	0.731																																						ENST00000371648.4																			0				lung(1)	1						c.(49-51)Cct>Act		endothelial differentiation-related factor 1							34	35	35					9																	139760662		2200	4298	6498	SO:0001583	missense	8721				endothelial cell differentiation|multicellular organismal development|positive regulation of DNA binding|positive regulation of transcription, DNA-dependent|regulation of lipid metabolic process|transcription, DNA-dependent	cytoplasm|nucleolus|nucleus	calmodulin binding|protein binding|sequence-specific DNA binding|transcription coactivator activity	g.chr9:139760662G>T	AJ005259	CCDS7011.1, CCDS7012.1, CCDS65193.1	9q34.3	2009-11-06			ENSG00000107223	ENSG00000107223			3164	protein-coding gene	gene with protein product	"multiprotein bridging factor-1"	605107				9813014, 15112053	Standard	NM_003792		Approved	EDF-1	uc004cjt.1	O60869	OTTHUMG00000020948	ENST00000224073.1:c.49C>A	9.37:g.139760662G>T	ENSP00000224073:p.Pro17Thr					EDF1_ENST00000371649.1_Missense_Mutation_p.P17T|EDF1_ENST00000224073.1_Missense_Mutation_p.P17T	p.P17T	NM_153200.1	NP_694880.1	O60869	EDF1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.52e-05)|Epithelial(140;0.000171)	1	56	-	all_cancers(76;0.0841)|all_epithelial(76;0.217)	Myeloproliferative disorder(178;0.0511)	17					Q5T5T2|Q9UIM1	Missense_Mutation	SNP	ENST00000224073.1	37	c.49C>A	CCDS7011.1	.	.	.	.	.	.	.	.	.	.	g	20.5	3.997666	0.74818	.	.	ENSG00000107223	ENST00000371649;ENST00000224073;ENST00000371648	.	.	.	4.59	3.62	0.41486	Multiprotein bridging factor 1, N-terminal (1);	0.076045	0.52532	U	0.000061	T	0.73984	0.3657	M	0.82433	2.59	0.80722	D	1	P;B	0.41624	0.757;0.17	P;P	0.51193	0.662;0.474	T	0.79274	-0.1871	9	0.62326	D	0.03	-3.2653	14.0143	0.64515	0.0:0.1524:0.8476:0.0	.	17;17	O60869-2;O60869	.;EDF1_HUMAN	T	17	.	ENSP00000224073:P17T	P	-	1	0	EDF1	138880483	1.000000	0.71417	0.998000	0.56505	0.698000	0.40448	5.793000	0.69060	2.125000	0.65367	0.651000	0.88453	CCT		0.731	EDF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055143.1			5	22	1	0	0.184627	1	0.189361	5	22					T	139760662	G	T	139760662	3	4	413	1	0	0	0	0	1	0	0	0	4914	1232	43	5	452	5	EDF1	9	139760662	Missense_Mutation	SNP	G	TCGA-VP-A879-01A-11D-A34U-08	33993645	139760662	1452769	32	20032											
DOCK1	1793	broad.mit.edu	37	chr10	129207655	129207655	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agtgtcagagcagattgtaaGgtaataatcccatttttctt	12	15	8	6	0	2	2	1	0	1	2	3	2	3	2	1	1	1	3	1	1	3	7			TCGA-VP-A879-01A-11D-A34U-08	TCGA-VP-A879-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff201859-353a-48ec-80f0-4efbd0274515	d19f8f3a-2084-4991-b2d4-e42c6747adc5	g.chr10:129207655G>A	ENST00000280333.6	+	42	4389	c.4280G>A	c.(4279-4281)aGt>aAt	p.S1427N		NM_001380.3	NP_001371.1	Q14185	DOCK1_HUMAN	dedicator of cytokinesis 1	1427	DHR-2.				apoptotic process (GO:0006915)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|hematopoietic progenitor cell differentiation (GO:0002244)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|phagocytosis, engulfment (GO:0006911)|positive regulation of GTPase activity (GO:0043547)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)			NS(2)|breast(1)|central_nervous_system(7)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(10)|lung(15)|ovary(4)|prostate(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	72		all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14)		BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115)		CAGATTGTAAGGTAATAATCC	0.448																																						ENST00000280333.6																			0				NS(2)|breast(1)|central_nervous_system(7)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(10)|lung(15)|ovary(4)|prostate(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	72						c.e42+1		dedicator of cytokinesis 1							112	108	109					10																	129207655		1932	4137	6069	SO:0001630	splice_region_variant	1793				apoptosis|axon guidance|blood coagulation|integrin-mediated signaling pathway|phagocytosis, engulfment|small GTPase mediated signal transduction	cytosol|membrane	GTP binding|GTPase activator activity|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding	g.chr10:129207655G>A	D50857	CCDS73222.1	10q26.13-q26.3	2009-10-28			ENSG00000150760	ENSG00000150760			2987	protein-coding gene	gene with protein product	"DOwnstream of CrK"	601403	"dedicator of cyto-kinesis 1"			8657152, 8661160	Standard	XM_006717681		Approved	DOCK180, ced5	uc001ljt.3	Q14185	OTTHUMG00000019249	ENST00000280333.6:c.4280+1G>A	10.37:g.129207655G>A							p.S1427_splice	NM_001380.3	NP_001371.1	Q14185	DOCK1_HUMAN		BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115)	42	4389	+		all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14)	1427			DHR-2.		A9Z1Z5	Splice_Site	SNP	ENST00000280333.6	37	c.4280_splice		.	.	.	.	.	.	.	.	.	.	G	0.772	-0.765553	0.02996	.	.	ENSG00000150760	ENST00000280333	T	0.17691	2.26	5.1	3.25	0.37280	.	0.086443	0.85682	N	0.000000	T	0.06416	0.0165	N	0.03891	-0.335	0.58432	D	0.999994	B;B;B	0.25007	0.0;0.116;0.0	B;B;B	0.29267	0.002;0.1;0.006	T	0.25117	-1.0141	10	0.02654	T	1	.	10.0356	0.42127	0.0709:0.0:0.7912:0.1378	.	1427;1493;1427	B2RUU3;A8MU08;Q14185	.;.;DOCK1_HUMAN	N	1427	ENSP00000280333:S1427N	ENSP00000280333:S1427N	S	+	2	0	DOCK1	129097645	1.000000	0.71417	0.591000	0.28745	0.592000	0.36648	2.844000	0.48246	0.731000	0.32448	0.655000	0.94253	AGT		0.448	DOCK1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000050979.2	NM_001380	Missense_Mutation	6	56	0	0	0	1	0	6	56					A	129207655	G	A	129207655	5	1	413	1	0	0	0	0	0	0	1	0	4684	1014	35	3	4446	3	DOCK1	10	129207655	Splice_Site	SNP	G	TCGA-VP-A879-01A-11D-A34U-08		129207655	6327092	33	20033											
PNPLA2	57104	broad.mit.edu	37	chr11	819818	819818	+	Frame_Shift_Del	DEL	C	C	-																															cctgcctccgcgagcacgcgCccttcctggtggccaacgcc																										TCGA-VP-A879-01A-11D-A34U-08	TCGA-VP-A879-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff201859-353a-48ec-80f0-4efbd0274515	d19f8f3a-2084-4991-b2d4-e42c6747adc5	g.chr11:819818delC	ENST00000336615.4	+	2	302	c.100delC	c.(100-102)cccfs	p.P34fs		NM_020376.3	NP_065109.1	Q96AD5	PLPL2_HUMAN	patatin-like phospholipase domain containing 2	34	Patatin.				acylglycerol acyl-chain remodeling (GO:0036155)|glycerophospholipid biosynthetic process (GO:0046474)|lipid particle organization (GO:0034389)|lipid storage (GO:0019915)|negative regulation of sequestering of triglyceride (GO:0010891)|phospholipid metabolic process (GO:0006644)|positive regulation of triglyceride catabolic process (GO:0010898)|small molecule metabolic process (GO:0044281)|triglyceride catabolic process (GO:0019433)	cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|lipid particle (GO:0005811)|plasma membrane (GO:0005886)	triglyceride lipase activity (GO:0004806)			breast(1)|endometrium(2)|lung(4)|prostate(1)|urinary_tract(1)	9		all_cancers(49;4.75e-06)|all_epithelial(84;0.00204)|Breast(177;0.00234)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.63e-25)|Epithelial(43;1.28e-24)|OV - Ovarian serous cystadenocarcinoma(40;7.09e-19)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CGAGCACGCGCCCTTCCTGGT	0.716																																						ENST00000336615.4																			0				breast(1)|endometrium(2)|lung(4)|prostate(1)|urinary_tract(1)	9						c.(100-102)ccfs		patatin-like phospholipase domain containing 2							10	8	9					11																	819818		2161	4228	6389	SO:0001589	frameshift_variant	57104				negative regulation of sequestering of triglyceride|positive regulation of triglyceride catabolic process	integral to membrane|lipid particle|plasma membrane	triglyceride lipase activity	g.chr11:819818delC	AJ278475	CCDS7718.1	11p15.5	2014-03-14			ENSG00000177666	ENSG00000177666	3.1.1.3	"Patatin-like phospholipase domain containing"	30802	protein-coding gene	gene with protein product		609059				8619474, 16799181, 19029121	Standard	NM_020376		Approved	desnutrin, TTS-2.2, ATGL, FP17548, iPLA2zeta	uc001lrt.3	Q96AD5	OTTHUMG00000133309	ENST00000336615.4:c.100delC	11.37:g.819818delC	ENSP00000337701:p.Pro34fs						p.P34fs	NM_020376.3	NP_065109.1	Q96AD5	PLPL2_HUMAN		all cancers(45;1.63e-25)|Epithelial(43;1.28e-24)|OV - Ovarian serous cystadenocarcinoma(40;7.09e-19)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	2	302	+		all_cancers(49;4.75e-06)|all_epithelial(84;0.00204)|Breast(177;0.00234)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)	34			Patatin.		O60643|Q5EFF5|Q6XYE5|Q96ET6|Q9NQ61|Q9NQ62	Frame_Shift_Del	DEL	ENST00000336615.4	37	c.100delC	CCDS7718.1																																																																																				0.716	PNPLA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257106.1	NM_020376		2	4						2	4	---	---	---	---	-	819818	C	-	819818	7	5	413	1	0	1	0	1	0	0	0	0	12165	739	26	0	102	0	PNPLA2	11	819818	Frame_Shift_Del	DEL	C	TCGA-VP-A879-01A-11D-A34U-08		819818	134186698	34	20034											
OR2D2	120776	broad.mit.edu	37	chr11	6913226	6913226	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gagcaatgctgttactgcctCggtagggtagcctcagtatg	8	11	13	9	1	1	0	1	0	0	0	2	1	1	0	2	2	5	6	2	2	5	4			TCGA-VP-A879-01A-11D-A34U-08	TCGA-VP-A879-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff201859-353a-48ec-80f0-4efbd0274515	d19f8f3a-2084-4991-b2d4-e42c6747adc5	g.chr11:6913226C>T	ENST00000299459.2	-	1	604	c.506G>A	c.(505-507)cGa>cAa	p.R169Q		NM_003700.1	NP_003691.1	Q9H210	OR2D2_HUMAN	olfactory receptor, family 2, subfamily D, member 2	169					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(3)|lung(9)|ovary(1)|skin(2)	18		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		GTTACTGCCTCGGTAGGGTAG	0.493																																						ENST00000299459.2																			0				breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(3)|lung(9)|ovary(1)|skin(2)	18						c.(505-507)cGa>cAa		olfactory receptor, family 2, subfamily D, member 2							105	83	91					11																	6913226		2201	4296	6497	SO:0001583	missense	120776				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:6913226C>T	AB065824	CCDS31416.1	11p15.4	2012-08-09			ENSG00000166368	ENSG00000166368		"GPCR / Class A : Olfactory receptors"	8244	protein-coding gene	gene with protein product		608494		OR2D1		9787077	Standard	NM_003700		Approved	OR11-610, hg27	uc010rau.2	Q9H210	OTTHUMG00000165741	ENST00000299459.2:c.506G>A	11.37:g.6913226C>T	ENSP00000299459:p.Arg169Gln						p.R169Q	NM_003700.1	NP_003691.1	Q9H210	OR2D2_HUMAN		Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)	1	604	-		Medulloblastoma(188;0.0523)|all_neural(188;0.236)	169					B9EIL5|O95224|Q6IF28|Q8NGH4|Q96R52	Missense_Mutation	SNP	ENST00000299459.2	37	c.506G>A	CCDS31416.1	.	.	.	.	.	.	.	.	.	.	c	5.909	0.351873	0.11182	.	.	ENSG00000166368	ENST00000299459	T	0.00069	8.77	5.12	-4.18	0.03846	GPCR, rhodopsin-like superfamily (1);	0.991378	0.08182	N	0.985236	T	0.00144	0.0004	L	0.34521	1.04	0.09310	N	1	B	0.06786	0.001	B	0.12837	0.008	T	0.10291	-1.0636	10	0.46703	T	0.11	-14.7948	12.7222	0.57147	0.0:0.4019:0.0:0.5981	.	169	Q9H210	OR2D2_HUMAN	Q	169	ENSP00000299459:R169Q	ENSP00000299459:R169Q	R	-	2	0	OR2D2	6869802	0.001000	0.12720	0.237000	0.24090	0.521000	0.34408	0.159000	0.16442	-0.659000	0.05359	-0.912000	0.02778	CGA		0.493	OR2D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385986.1	NM_003700		9	48	0	0	0	1	0	9	48					T	6913226	C	T	6913226	3	4	413	1	0	0	0	0	1	0	0	0	10994	884	31	2	423	2	OR2D2	11	6913226	Missense_Mutation	SNP	C	TCGA-VP-A879-01A-11D-A34U-08	6093408	6913226	128093290	35	20035											
OR5A1	219982	broad.mit.edu	37	chr11	59210893	59210893	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tctgctgtggctcccaatatGctcactgacttcttctggga	6	14	9	12	0	4	1	1	1	3	0	5	2	5	2	1	2	2	3	1	2	2	3			TCGA-VP-A879-01A-11D-A34U-08	TCGA-VP-A879-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff201859-353a-48ec-80f0-4efbd0274515	d19f8f3a-2084-4991-b2d4-e42c6747adc5	g.chr11:59210893G>T	ENST00000302030.2	+	1	277	c.252G>T	c.(250-252)atG>atT	p.M84I		NM_001004728.1	NP_001004728.1	Q8NGJ0	OR5A1_HUMAN	olfactory receptor, family 5, subfamily A, member 1	84						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	28						CTCCCAATATGCTCACTGACT	0.478																																						ENST00000302030.2																			0				central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	28						c.(250-252)atG>atT		olfactory receptor, family 5, subfamily A, member 1							129	125	126					11																	59210893		2201	4295	6496	SO:0001583	missense	219982				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:59210893G>T	AB065804	CCDS31561.1	11q12.1	2012-08-09			ENSG00000172320	ENSG00000172320		"GPCR / Class A : Olfactory receptors"	8319	protein-coding gene	gene with protein product				OR5A1P			Standard	NM_001004728		Approved	OST181	uc001nnx.1	Q8NGJ0	OTTHUMG00000167339	ENST00000302030.2:c.252G>T	11.37:g.59210893G>T	ENSP00000303096:p.Met84Ile						p.M84I	NM_001004728.1	NP_001004728.1	Q8NGJ0	OR5A1_HUMAN			1	277	+			84					B9EH58|Q6IFF2|Q96RB1	Missense_Mutation	SNP	ENST00000302030.2	37	c.252G>T	CCDS31561.1	.	.	.	.	.	.	.	.	.	.	G	13.23	2.174186	0.38413	.	.	ENSG00000172320	ENST00000302030	T	0.05513	3.43	5.76	5.76	0.90799	GPCR, rhodopsin-like superfamily (1);	0.093817	0.46442	D	0.000281	T	0.08980	0.0222	M	0.66560	2.04	0.33338	D	0.569498	B	0.24043	0.096	B	0.21546	0.035	T	0.03684	-1.1013	10	0.62326	D	0.03	-36.8818	7.7667	0.28984	0.0807:0.0:0.7564:0.1629	.	84	Q8NGJ0	OR5A1_HUMAN	I	84	ENSP00000303096:M84I	ENSP00000303096:M84I	M	+	3	0	OR5A1	58967469	0.711000	0.27906	1.000000	0.80357	0.964000	0.63967	0.105000	0.15333	2.718000	0.92993	0.650000	0.86243	ATG		0.478	OR5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394233.1	NM_001004728		5	104	1	0	0.184627	1	0.189361	5	104					T	59210893	G	T	59210893	3	4	413	1	0	0	0	0	1	0	0	0	11139	1319	46	5	254	5	OR5A1	11	59210893	Missense_Mutation	SNP	G	TCGA-VP-A879-01A-11D-A34U-08	52297667	59210893	75795623	36	20036											
HNRNPUL2	221092	broad.mit.edu	37	chr11	62484484	62484486	+	In_Frame_Del	DEL	TTC	TTC	-																															agccttggccccggcttcggTtctgccggttacgcttgttt																										TCGA-VP-A879-01A-11D-A34U-08	TCGA-VP-A879-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff201859-353a-48ec-80f0-4efbd0274515	d19f8f3a-2084-4991-b2d4-e42c6747adc5	g.chr11:62484484_62484486delTTC	ENST00000301785.5	-	11	2148_2150	c.1956_1958delGAA	c.(1954-1959)cagaac>cac	p.652_653QN>H	HNRNPUL2-BSCL2_ENST00000403734.2_In_Frame_Del_p.652_653QN>H	NM_001079559.2	NP_001073027.1	Q1KMD3	HNRL2_HUMAN	heterogeneous nuclear ribonucleoprotein U-like 2	652						membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						CCGGCTTCGGTTCTGCCGGTTAC	0.557																																						ENST00000301785.5																			0				NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						c.(1954-1959)cac>ca		heterogeneous nuclear ribonucleoprotein U-like 2																																				SO:0001651	inframe_deletion	221092				cell killing	nucleus	ATP binding|nucleic acid binding	g.chr11:62484484_62484486delTTC		CCDS41659.1	11q12	2013-07-16		2008-04-18	ENSG00000214753	ENSG00000214753			25451	protein-coding gene	gene with protein product				HNRPUL2			Standard	NM_001079559		Approved	DKFZp762N1910	uc001nuw.3	Q1KMD3	OTTHUMG00000167773	ENST00000301785.5:c.1956_1958delGAA	11.37:g.62484484_62484486delTTC	ENSP00000301785:p.Gln652_Asn653delinsHis					RP11-831H9.16_ENST00000403734.2_In_Frame_Del_p.QN652del	p.QN652del	NM_001079559.2	NP_001073027.1	Q1KMD3	HNRL2_HUMAN			11	2148_2150	-			652					Q8N3B3	In_Frame_Del	DEL	ENST00000301785.5	37	c.1956_1958delGAA	CCDS41659.1																																																																																				0.557	HNRNPUL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396208.2	XM_495877		20	72						20	72	---	---	---	---	-	62484486	TTC	-	62484484	7	5	413	1	0	1	0	1	0	0	0	0	7275	1725	60	0	301	0	HNRNPUL2	11	62484484	In_Frame_Del	DEL	TTC	TCGA-VP-A879-01A-11D-A34U-08	3273591	62484484	72522032	37	20037											
KIAA0528	9847	broad.mit.edu	37	chr12	22637658	22637658	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gaataagacaaccttttccaAtaactgttgcatctgttggg	12	13	8	8	0	1	1	0	0	1	1	2	2	2	1	2	1	3	3	2	1	5	6			TCGA-VP-A879-01A-11D-A34U-08	TCGA-VP-A879-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff201859-353a-48ec-80f0-4efbd0274515	d19f8f3a-2084-4991-b2d4-e42c6747adc5	g.chr12:22637658A>G	ENST00000333957.4	-	13	1778	c.1523T>C	c.(1522-1524)aTt>aCt	p.I508T	C2CD5_ENST00000446597.1_Missense_Mutation_p.I508T|C2CD5_ENST00000545552.1_Missense_Mutation_p.I521T|C2CD5_ENST00000544930.1_Missense_Mutation_p.I323T|C2CD5_ENST00000542676.1_Missense_Mutation_p.I508T|C2CD5_ENST00000396028.2_Missense_Mutation_p.I499T|C2CD5_ENST00000536386.1_Missense_Mutation_p.I510T	NM_014802.1	NP_055617.1	Q86YS7	C2CD5_HUMAN	C2 calcium-dependent domain containing 5	508					cellular response to insulin stimulus (GO:0032869)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|intracellular protein transmembrane transport (GO:0065002)|positive regulation of glucose transport (GO:0010828)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of vesicle fusion (GO:0031340)	cell cortex (GO:0005938)|cytoplasmic vesicle membrane (GO:0030659)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)										ACCTTTTCCAATAACTGTTGC	0.383																																						ENST00000333957.4																			0											c.(1522-1524)aTt>aCt		C2 calcium-dependent domain containing 5							124	119	120					12																	22637658		2203	4300	6503	SO:0001583	missense	9847							g.chr12:22637658A>G	AB011100	CCDS31758.1, CCDS66337.1, CCDS66338.1, CCDS66339.1, CCDS66340.1	12p12.1	2012-12-13	2012-12-13	2012-12-13	ENSG00000111731	ENSG00000111731			29062	protein-coding gene	gene with protein product	"138 kDa C2 domain-containing phosphoprotein"		"KIAA0528"	KIAA0528		21907143	Standard	XM_005253538		Approved	CDP138	uc001rfq.3	Q86YS7	OTTHUMG00000169100	ENST00000333957.4:c.1523T>C	12.37:g.22637658A>G	ENSP00000334229:p.Ile508Thr					C2CD5_ENST00000536386.1_Missense_Mutation_p.I510T|C2CD5_ENST00000446597.1_Missense_Mutation_p.I508T|C2CD5_ENST00000544930.1_Missense_Mutation_p.I323T|C2CD5_ENST00000545552.1_Missense_Mutation_p.I521T|C2CD5_ENST00000396028.2_Missense_Mutation_p.I499T|C2CD5_ENST00000542676.1_Missense_Mutation_p.I508T	p.I508T	NM_014802.1	NP_055617.1					13	1778	-								B4DJ03|B4DRN7|B7ZLL0|F5H2A1|F5H5R1|O60280|Q17RY7|Q7Z619|Q86SU3	Missense_Mutation	SNP	ENST00000333957.4	37	c.1523T>C	CCDS31758.1	.	.	.	.	.	.	.	.	.	.	A	4.640	0.118906	0.08881	.	.	ENSG00000111731	ENST00000333957;ENST00000446597;ENST00000536386;ENST00000396028;ENST00000542676;ENST00000545552;ENST00000544930	T;T;T;T;T;T;T	0.42513	0.97;0.97;0.97;0.97;0.97;0.97;0.97	5.24	5.24	0.73138	.	0.308416	0.30830	N	0.008789	T	0.20618	0.0496	N	0.04880	-0.145	0.32797	N	0.500423	B;B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0;0.0	B;B;B;B;B;B	0.06405	0.001;0.0;0.002;0.0;0.002;0.0	T	0.13495	-1.0507	10	0.02654	T	1	-8.5347	15.1432	0.72626	1.0:0.0:0.0:0.0	.	510;508;323;510;499;508	F5H2A1;B4DRN7;F5H3N1;B7ZLL0;Q86YS7-2;Q86YS7	.;.;.;.;.;K0528_HUMAN	T	508;508;510;499;508;521;323	ENSP00000334229:I508T;ENSP00000388756:I508T;ENSP00000439392:I510T;ENSP00000379345:I499T;ENSP00000441951:I508T;ENSP00000443204:I521T;ENSP00000445288:I323T	ENSP00000334229:I508T	I	-	2	0	KIAA0528	22528925	1.000000	0.71417	0.998000	0.56505	0.995000	0.86356	5.596000	0.67570	1.965000	0.57142	0.533000	0.62120	ATT		0.383	C2CD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402257.1	NM_014802		4	109	0	0	0	1	0	4	109					G	22637658	A	G	22637658	3	3	413	1	0	0	0	0	1	0	0	0	8182	101	4	4	1531	4	KIAA0528	12	22637658	Missense_Mutation	SNP	A	TCGA-VP-A879-01A-11D-A34U-08		22637658	111214237	38	20038											
XPO4	64328	broad.mit.edu	37	chr13	21373356	21373356	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccatatgtgcaaaacctcctAagactagagccttcatcaat	14	10	5	12	0	2	2	2	0	0	2	3	2	3	2	4	0	3	1	4	0	6	4			TCGA-VP-A879-01A-11D-A34U-08	TCGA-VP-A879-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff201859-353a-48ec-80f0-4efbd0274515	d19f8f3a-2084-4991-b2d4-e42c6747adc5	g.chr13:21373356A>G	ENST00000255305.6	-	16	2341	c.2270T>C	c.(2269-2271)tTa>tCa	p.L757S	XPO4_ENST00000400602.2_Missense_Mutation_p.L757S			Q9C0E2	XPO4_HUMAN	exportin 4	757					positive regulation of protein export from nucleus (GO:0046827)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(1)|endometrium(10)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	41		all_cancers(29;5.05e-24)|all_epithelial(30;5.56e-20)|all_lung(29;2.38e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)		all cancers(112;0.000521)|Epithelial(112;0.000892)|OV - Ovarian serous cystadenocarcinoma(117;0.0148)|Lung(94;0.0189)|LUSC - Lung squamous cell carcinoma(192;0.0548)		AAAACCTCCTAAGACTAGAGC	0.438																																						ENST00000400602.2																			0				breast(1)|endometrium(10)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	41						c.(2269-2271)tTa>tCa		exportin 4							270	262	264					13																	21373356		1897	4128	6025	SO:0001583	missense	64328				protein transport	cytoplasm|nucleus	protein binding	g.chr13:21373356A>G	AB051508	CCDS41872.1	13q11	2011-04-13			ENSG00000132953	ENSG00000132953		"Exportins"	17796	protein-coding gene	gene with protein product		611449				11214970, 10944119	Standard	NM_022459		Approved	FLJ13046, KIAA1721	uc001unq.4	Q9C0E2	OTTHUMG00000016528	ENST00000255305.6:c.2270T>C	13.37:g.21373356A>G	ENSP00000255305:p.Leu757Ser					XPO4_ENST00000255305.6_Missense_Mutation_p.L757S	p.L757S	NM_022459.4	NP_071904.4	Q9C0E2	XPO4_HUMAN		all cancers(112;0.000521)|Epithelial(112;0.000892)|OV - Ovarian serous cystadenocarcinoma(117;0.0148)|Lung(94;0.0189)|LUSC - Lung squamous cell carcinoma(192;0.0548)	16	2305	-		all_cancers(29;5.05e-24)|all_epithelial(30;5.56e-20)|all_lung(29;2.38e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)	757					Q5VUZ5|Q8N3V6|Q9H934	Missense_Mutation	SNP	ENST00000255305.6	37	c.2270T>C	CCDS41872.1	.	.	.	.	.	.	.	.	.	.	A	19.36	3.811804	0.70797	.	.	ENSG00000132953	ENST00000400602;ENST00000456108;ENST00000255305	T;T	0.57107	0.42;0.42	5.98	5.98	0.97165	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.46112	0.1376	L	0.43152	1.355	0.80722	D	1	B	0.33266	0.404	B	0.29524	0.103	T	0.39014	-0.9634	10	0.36615	T	0.2	-13.0961	16.4781	0.84144	1.0:0.0:0.0:0.0	.	757	Q9C0E2	XPO4_HUMAN	S	757;627;757	ENSP00000383444:L757S;ENSP00000255305:L757S	ENSP00000255305:L757S	L	-	2	0	XPO4	20271356	1.000000	0.71417	0.796000	0.32109	0.996000	0.88848	8.855000	0.92236	2.288000	0.76882	0.528000	0.53228	TTA		0.438	XPO4-001	KNOWN	non_canonical_conserved|non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000044096.1	NM_022459		14	364	0	0	0	1	0	14	364					G	21373356	A	G	21373356	3	3	413	1	0	0	0	0	1	0	0	0	17443	372	13	4	1217	4	XPO4	13	21373356	Missense_Mutation	SNP	A	TCGA-VP-A879-01A-11D-A34U-08		21373356	93796522	39	20039											
SKA3	221150	broad.mit.edu	37	chr13	21729267	21729267	+	3'UTR	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcattttgttcagtttctgtGttggatagatccactggaat	8	18	9	6	0	3	1	2	0	1	1	4	3	4	3	1	2	0	3	1	2	2	6	rs11147977	byFrequency	TCGA-VP-A879-01A-11D-A34U-08	TCGA-VP-A879-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff201859-353a-48ec-80f0-4efbd0274515	d19f8f3a-2084-4991-b2d4-e42c6747adc5	g.chr13:21729267G>A	ENST00000314759.5	-	0	1385				SKA3_ENST00000400018.3_Missense_Mutation_p.T381I	NM_145061.5	NP_659498.4	Q8IX90	SKA3_HUMAN	spindle and kinetochore associated complex subunit 3						chromosome segregation (GO:0007059)|mitotic nuclear division (GO:0007067)|regulation of microtubule polymerization or depolymerization (GO:0031110)	condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|spindle microtubule (GO:0005876)				breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19						CAGTTTCTGTGTTGGATAGAT	0.363																																						ENST00000400018.3																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19						c.(1141-1143)aCa>aTa		spindle and kinetochore associated complex subunit 3							141	146	144					13																	21729267		2202	4300	6502	SO:0001624	3_prime_UTR_variant	221150				cell division|chromosome segregation|mitosis|regulation of microtubule polymerization or depolymerization	condensed chromosome outer kinetochore|cytoplasm|spindle microtubule	protein binding	g.chr13:21729267G>A	AF361358	CCDS31946.1, CCDS53856.1	13q11	2013-01-17	2009-08-19	2009-08-19	ENSG00000165480	ENSG00000165480			20262	protein-coding gene	gene with protein product			"chromosome 13 open reading frame 3"	C13orf3		19387489, 19289083, 19646878, 19360002	Standard	NM_145061		Approved	MGC4832, RAMA1	uc001unt.3	Q8IX90	OTTHUMG00000016539	ENST00000314759.5:c.*22C>T	13.37:g.21729267G>A						SKA3_ENST00000314759.5_3'UTR	p.T381I	NM_001166017.1	NP_001159489.1	Q8IX90	SKA3_HUMAN			8	1211	-			0					A2A330|A2A331|B2RBY2|Q5VZV5|Q86WR2|Q8NBG1|Q96D22	Missense_Mutation	SNP	ENST00000314759.5	37	c.1142C>T	CCDS31946.1	234	0.10714285714285714	10	0.02032520325203252	48	0.13259668508287292	96	0.16783216783216784	80	0.10554089709762533	A	1.991	-0.431860	0.04669	.	.	ENSG00000165480	ENST00000400018	T	0.22945	1.93	4.07	-0.905	0.10527	.	.	.	.	.	T	0.00039	0.0001	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.30357	-0.9981	8	0.41790	T	0.15	.	4.7384	0.13001	0.4657:0.1694:0.365:0.0	rs11147977;rs52815571;rs61114986;rs11147977	381	Q8IX90-3	.	I	381	ENSP00000382896:T381I	ENSP00000382896:T381I	T	-	2	0	SKA3	20627267	0.001000	0.12720	0.000000	0.03702	0.014000	0.08584	0.200000	0.17257	-0.416000	0.07473	-0.893000	0.02921	ACA		0.363	SKA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000272912.1	NM_145061		4	36	0	0	0	1	0	4	36					A	21729267	G	A	21729267	1	1	413	0	1	0	0	0	0	0	0	0	14354	1377	48	3		3	SKA3	13	21729267	3'UTR	SNP	G	TCGA-VP-A879-01A-11D-A34U-08	355911	21729267	93440611	40	20040											
SLITRK5	26050	broad.mit.edu	37	chr13	88329858	88329858	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	atcaccgcgggcccgcgctgCccaaggtgaagacgcccgcg	7	3	14	17	7	1	2	1	1	0	1	1	2	1	2	4	2	1	1	4	2	2	0			TCGA-VP-A879-01A-11D-A34U-08	TCGA-VP-A879-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff201859-353a-48ec-80f0-4efbd0274515	d19f8f3a-2084-4991-b2d4-e42c6747adc5	g.chr13:88329858C>T	ENST00000325089.6	+	2	2434	c.2215C>T	c.(2215-2217)Ccc>Tcc	p.P739S	SLITRK5_ENST00000400028.3_Missense_Mutation_p.P498S	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5	739					adult behavior (GO:0030534)|axonogenesis (GO:0007409)|cardiovascular system development (GO:0072358)|dendrite morphogenesis (GO:0048813)|grooming behavior (GO:0007625)|response to xenobiotic stimulus (GO:0009410)|skin development (GO:0043588)|striatum development (GO:0021756)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81	all_neural(89;0.101)|Medulloblastoma(90;0.163)					GCCCGCGCTGCCCAAGGTGAA	0.667																																						ENST00000325089.6																			0				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81						c.(2215-2217)Ccc>Tcc		SLIT and NTRK-like family, member 5							42	46	45					13																	88329858		2200	4291	6491	SO:0001583	missense	26050					integral to membrane		g.chr13:88329858C>T	AB020725	CCDS9465.1	13q31.1	2004-04-16	2004-01-08		ENSG00000165300	ENSG00000165300			20295	protein-coding gene	gene with protein product		609680	"leucine rich repeat containing 11"	LRRC11		10048485, 14557068	Standard	NM_015567		Approved	bA364G4.2, KIAA0918	uc001vln.3	O94991	OTTHUMG00000017167	ENST00000325089.6:c.2215C>T	13.37:g.88329858C>T	ENSP00000366283:p.Pro739Ser					SLITRK5_ENST00000400028.3_Missense_Mutation_p.P498S	p.P739S	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN			2	2434	+	all_neural(89;0.101)|Medulloblastoma(90;0.163)		739					B3KNB8|B4DSH5|Q5VT81	Missense_Mutation	SNP	ENST00000325089.6	37	c.2215C>T	CCDS9465.1	.	.	.	.	.	.	.	.	.	.	C	15.38	2.815848	0.50527	.	.	ENSG00000165300	ENST00000325089;ENST00000400028	T;T	0.59364	0.27;0.67	4.36	4.36	0.52297	.	0.064902	0.64402	D	0.000008	T	0.43055	0.1230	L	0.34521	1.04	0.50467	D	0.999872	B;B	0.31837	0.226;0.342	B;B	0.22386	0.039;0.039	T	0.35574	-0.9783	9	.	.	.	-8.7403	14.375	0.66867	0.0:1.0:0.0:0.0	.	498;739	B4DSH5;O94991	.;SLIK5_HUMAN	S	739;498	ENSP00000366283:P739S;ENSP00000442244:P498S	.	P	+	1	0	SLITRK5	87127859	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	7.391000	0.79828	1.942000	0.56320	0.455000	0.32223	CCC		0.667	SLITRK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045416.3			19	98	0	0	0	1	0	19	98					T	88329858	C	T	88329858	3	4	413	1	0	0	0	0	1	0	0	0	14746	739	26	3	2217	3	SLITRK5	13	88329858	Missense_Mutation	SNP	C	TCGA-VP-A879-01A-11D-A34U-08	66600591	88329858	26840020	41	20041											
MCF2L	23263	broad.mit.edu	37	chr13	113738343	113738343	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggagctggaaaactacactGactgcccagaactggttgga	12	7	13	9	0	0	2	0	1	0	1	0	5	0	5	1	4	5	2	1	4	4	2			TCGA-VP-A879-01A-11D-A34U-08	TCGA-VP-A879-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff201859-353a-48ec-80f0-4efbd0274515	d19f8f3a-2084-4991-b2d4-e42c6747adc5	g.chr13:113738343G>T	ENST00000375608.3	+	19	2171	c.2113G>T	c.(2113-2115)Gac>Tac	p.D705Y	MCF2L_ENST00000397030.1_Missense_Mutation_p.D708Y|MCF2L_ENST00000375604.2_Missense_Mutation_p.D732Y|MCF2L_ENST00000442652.2_Missense_Mutation_p.D705Y|MCF2L_ENST00000423482.2_Missense_Mutation_p.D673Y|MCF2L_ENST00000375597.4_Missense_Mutation_p.D673Y|MCF2L_ENST00000434480.2_Missense_Mutation_p.D681Y|MCF2L_ENST00000375601.3_Missense_Mutation_p.D679Y|MCF2L_ENST00000421756.1_Missense_Mutation_p.D679Y|MCF2L_ENST00000535094.2_Missense_Mutation_p.D675Y			O15068	MCF2L_HUMAN	MCF.2 cell line derived transforming sequence-like	705	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|extracellular space (GO:0005615)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)	1-phosphatidylinositol binding (GO:0005545)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			kidney(1)|large_intestine(5)|ovary(1)|stomach(1)	8	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0368)|all_epithelial(44;0.0396)|Lung NSC(25;0.129)|Breast(118;0.188)				AAACTACACTGACTGCCCAGA	0.433																																						ENST00000397030.1																			0				kidney(1)|large_intestine(5)|ovary(1)|stomach(1)	8						c.(2122-2124)Gac>Tac		MCF.2 cell line derived transforming sequence-like							246	210	222					13																	113738343		2203	4300	6503	SO:0001583	missense	23263				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	Rho guanyl-nucleotide exchange factor activity	g.chr13:113738343G>T	AB002360	CCDS9527.2, CCDS45070.1, CCDS9527.3, CCDS45070.2	13q34	2013-01-10			ENSG00000126217	ENSG00000126217		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	14576	protein-coding gene	gene with protein product		609499				9205841	Standard	NM_001112732		Approved	KIAA0362, DBS, OST, ARHGEF14	uc010tjr.2	O15068	OTTHUMG00000017377	ENST00000375608.3:c.2113G>T	13.37:g.113738343G>T	ENSP00000364758:p.Asp705Tyr					MCF2L_ENST00000375601.3_Missense_Mutation_p.D679Y|MCF2L_ENST00000535094.2_Missense_Mutation_p.D675Y|MCF2L_ENST00000375597.4_Missense_Mutation_p.D673Y|MCF2L_ENST00000375604.2_Missense_Mutation_p.D732Y|MCF2L_ENST00000421756.1_Missense_Mutation_p.D679Y|MCF2L_ENST00000434480.2_Missense_Mutation_p.D681Y|MCF2L_ENST00000442652.2_Missense_Mutation_p.D705Y|MCF2L_ENST00000423482.2_Missense_Mutation_p.D673Y|MCF2L_ENST00000375608.3_Missense_Mutation_p.D705Y	p.D708Y			O15068	MCF2L_HUMAN			18	2159	+	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0368)|all_epithelial(44;0.0396)|Lung NSC(25;0.129)|Breast(118;0.188)	705			DH.		A2A2X1|A2A2X2|A2A3G6|A2A3G8|B4DHD6|B4DIL6|E9PDN8|Q5JU56|Q5VXT1|Q6ZWD4|Q765G8|Q765G9|Q8N679	Missense_Mutation	SNP	ENST00000375608.3	37	c.2122G>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.97|15.97	2.989238|2.989238	0.53934|0.53934	.|.	.|.	ENSG00000126217|ENSG00000126217	ENST00000375608;ENST00000442652;ENST00000375604;ENST00000397030;ENST00000535094;ENST00000421756;ENST00000375601;ENST00000434480;ENST00000423482;ENST00000375597;ENST00000440749|ENST00000397017	T;T;T;T;T;T;T;T;T;T|.	0.64991|.	-0.13;-0.13;-0.13;-0.13;-0.13;-0.13;-0.13;-0.13;-0.13;-0.13|.	5.04|5.04	5.04|5.04	0.67666|0.67666	Dbl homology (DH) domain (5);|.	0.048535|.	0.85682|.	D|.	0.000000|.	T|.	0.72053|.	0.3413|.	L|L	0.57536|0.57536	1.79|1.79	0.80722|0.80722	D|D	1|1	D;D;D;D;D;D|.	0.76494|.	0.998;0.998;0.999;0.995;0.999;0.999|.	D;D;D;D;D;D|.	0.70716|.	0.95;0.95;0.95;0.946;0.968;0.97|.	T|.	0.70382|.	-0.4887|.	10|.	0.54805|.	T|.	0.06|.	.|.	18.4026|18.4026	0.90522|0.90522	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	673;675;732;637;673;705|.	E9PDN8;O15068-9;G5E9A1;E2QRA2;O15068-4;O15068|.	.;.;.;.;.;MCF2L_HUMAN|.	Y|L	705;705;732;708;675;679;679;681;673;673;516|335	ENSP00000364758:D705Y;ENSP00000401422:D705Y;ENSP00000364754:D732Y;ENSP00000380225:D708Y;ENSP00000440374:D675Y;ENSP00000397285:D679Y;ENSP00000364751:D679Y;ENSP00000407722:D681Y;ENSP00000405639:D673Y;ENSP00000364747:D673Y|.	ENSP00000364747:D673Y|.	D|X	+|+	1|2	0|2	MCF2L|MCF2L	112786344|112786344	1.000000|1.000000	0.71417|0.71417	0.918000|0.918000	0.36340|0.36340	0.064000|0.064000	0.16182|0.16182	9.606000|9.606000	0.98325|0.98325	2.338000|2.338000	0.79540|0.79540	0.561000|0.561000	0.74099|0.74099	GAC|TGA		0.433	MCF2L-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000045849.4			4	78	1	0	0.150653	1	0.158583	4	78					T	113738343	G	T	113738343	3	4	413	1	0	0	0	0	1	0	0	0	9379	1290	45	5	2359	5	MCF2L	13	113738343	Missense_Mutation	SNP	G	TCGA-VP-A879-01A-11D-A34U-08	25408485	113738343	1431535	42	20042											
CDC16	8881	broad.mit.edu	37	chr13	115027372	115027372	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatgttttaggtaacagttgAcaaatgggaacctttgttga	12	15	10	4	0	0	2	0	2	0	0	0	3	0	3	1	2	2	4	1	2	5	7			TCGA-VP-A879-01A-11D-A34U-08	TCGA-VP-A879-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff201859-353a-48ec-80f0-4efbd0274515	d19f8f3a-2084-4991-b2d4-e42c6747adc5	g.chr13:115027372A>G	ENST00000356221.3	+	15	1433	c.1325A>G	c.(1324-1326)gAc>gGc	p.D442G	CDC16_ENST00000375310.1_Missense_Mutation_p.D348G|CDC16_ENST00000375312.3_Missense_Mutation_p.D297G|CDC16_ENST00000360383.3_Missense_Mutation_p.D442G|CDC16_ENST00000252457.5_Missense_Mutation_p.D441G|CDC16_ENST00000375308.1_Missense_Mutation_p.D348G|CDC16_ENST00000252458.6_Missense_Mutation_p.D297G			Q13042	CDC16_HUMAN	cell division cycle 16	442					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell proliferation (GO:0008283)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of mitosis (GO:0007088)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|spindle (GO:0005819)				endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22	Lung NSC(43;0.00299)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0191)|all_epithelial(44;0.00716)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.238)	BRCA - Breast invasive adenocarcinoma(86;0.0886)			GTAACAGTTGACAAATGGGAA	0.378																																						ENST00000360383.3																			0				endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						c.(1324-1326)gAc>gGc		cell division cycle 16							203	196	199					13																	115027372		2203	4300	6503	SO:0001583	missense	8881				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|cell proliferation|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule	binding	g.chr13:115027372A>G	U18291	CCDS9542.2	13q34	2013-01-17	2013-01-17		ENSG00000130177	ENSG00000130177		"Anaphase promoting complex subunits", "Tetratricopeptide (TTC) repeat domain containing"	1720	protein-coding gene	gene with protein product	"anaphase-promoting complex, subunit 6"	603461	"CDC16 (cell division cycle 16, S. cerevisiae, homolog)", "CDC16 cell division cycle 16 homolog (S. cerevisiae)", "cell division cycle 16 homolog (S. cerevisiae)"			7736578	Standard	NM_001078645		Approved	APC6, ANAPC6, CUT9	uc001vul.1	Q13042	OTTHUMG00000017402	ENST00000356221.3:c.1325A>G	13.37:g.115027372A>G	ENSP00000348554:p.Asp442Gly					CDC16_ENST00000375310.1_Missense_Mutation_p.D348G|CDC16_ENST00000375312.3_Missense_Mutation_p.D297G|CDC16_ENST00000356221.3_Missense_Mutation_p.D442G|CDC16_ENST00000252457.5_Missense_Mutation_p.D441G|CDC16_ENST00000375308.1_Missense_Mutation_p.D348G|CDC16_ENST00000252458.6_Missense_Mutation_p.D297G	p.D442G	NM_001078645.1|NM_003903.3	NP_001072113.1|NP_003894.3	Q13042	CDC16_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.0886)		15	1523	+	Lung NSC(43;0.00299)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0191)|all_epithelial(44;0.00716)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.238)	442					A2A365|Q5T8C8|Q96AE6|Q9Y564	Missense_Mutation	SNP	ENST00000356221.3	37	c.1325A>G	CCDS9542.2	.	.	.	.	.	.	.	.	.	.	A	18.62	3.663769	0.67700	.	.	ENSG00000130177	ENST00000360383;ENST00000375312;ENST00000356221;ENST00000375310;ENST00000252457;ENST00000375308;ENST00000252458	T;T;T;T;T	0.54479	0.57;0.57;0.57;0.57;0.57	5.72	5.72	0.89469	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.85682	D	0.000000	T	0.42921	0.1224	N	0.20845	0.615	0.80722	D	1	P;P;P	0.44734	0.842;0.588;0.453	B;B;B	0.43867	0.434;0.342;0.185	T	0.30149	-0.9988	9	.	.	.	-21.361	15.9954	0.80234	1.0:0.0:0.0:0.0	.	390;441;442	Q13042-3;Q13042-2;Q13042	.;.;CDC16_HUMAN	G	442;297;442;348;441;348;297	ENSP00000353549:D442G;ENSP00000348554:D442G;ENSP00000364459:D348G;ENSP00000252457:D441G;ENSP00000364457:D348G	.	D	+	2	0	CDC16	114045474	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.447000	0.90332	2.184000	0.69523	0.455000	0.32223	GAC		0.378	CDC16-009	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276737.1	NM_003903		5	80	0	0	0	1	0	5	80					G	115027372	A	G	115027372	3	3	413	1	0	0	0	0	1	0	0	0	3058	275	10	4	1383	4	CDC16	13	115027372	Missense_Mutation	SNP	A	TCGA-VP-A879-01A-11D-A34U-08	1289029	115027372	142506	43	20043											
RYR3	6263	broad.mit.edu	37	chr15	34129867	34129867	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gcaccattggcaagcagatgGttgacacactggtagaatca	13	8	11	9	0	1	3	1	1	0	2	1	3	1	3	1	3	1	5	1	3	3	3			TCGA-VP-A879-01A-11D-A34U-08	TCGA-VP-A879-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff201859-353a-48ec-80f0-4efbd0274515	d19f8f3a-2084-4991-b2d4-e42c6747adc5	g.chr15:34129867G>T	ENST00000389232.4	+	89	11756	c.11686G>T	c.(11686-11688)Gtt>Ttt	p.V3896F	RYR3_ENST00000415757.3_Missense_Mutation_p.V3891F	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	3896					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		CAAGCAGATGGTTGACACACT	0.383																																						ENST00000389232.4																			0				NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311						c.(11686-11688)Gtt>Ttt		ryanodine receptor 3							68	68	68					15																	34129867		1899	4106	6005	SO:0001583	missense	6263				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr15:34129867G>T		CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"Ion channels / Ryanodine receptors", "EF-hand domain containing"	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.11686G>T	15.37:g.34129867G>T	ENSP00000373884:p.Val3896Phe					RYR3_ENST00000415757.3_Missense_Mutation_p.V3891F	p.V3896F	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)	89	11756	+		all_lung(180;7.18e-09)	3896					O15175|Q15412	Missense_Mutation	SNP	ENST00000389232.4	37	c.11686G>T	CCDS45210.1	.	.	.	.	.	.	.	.	.	.	G	19.75	3.885382	0.72410	.	.	ENSG00000198838	ENST00000389232;ENST00000361728	T	0.67345	-0.26	5.16	5.16	0.70880	.	0.000000	0.64402	D	0.000001	T	0.81777	0.4894	M	0.72118	2.19	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.91635	0.968;0.999	T	0.83011	-0.0172	10	0.66056	D	0.02	.	18.8474	0.92212	0.0:0.0:1.0:0.0	.	3891;3896	Q15413-2;Q15413	.;RYR3_HUMAN	F	3896;3892	ENSP00000373884:V3896F	ENSP00000354735:V3892F	V	+	1	0	RYR3	31917159	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.530000	0.98051	2.702000	0.92279	0.551000	0.68910	GTT		0.383	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1			6	10	1	0	0.00116845	1	0.00128049	6	10					T	34129867	G	T	34129867	3	4	413	1	0	0	0	0	1	0	0	0	13770	1261	44	5	12040	5	RYR3	15	34129867	Missense_Mutation	SNP	G	TCGA-VP-A879-01A-11D-A34U-08		34129867	68401525	44	20044											
THSD4	79875	broad.mit.edu	37	chr15	72037466	72037466	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atcgcagtaccctattttccGctgtgtgcacagaagcactc	9	11	8	13	2	0	1	0	0	0	1	3	1	1	1	2	0	3	5	2	0	3	4	rs374464107		TCGA-VP-A879-01A-11D-A34U-08	TCGA-VP-A879-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff201859-353a-48ec-80f0-4efbd0274515	d19f8f3a-2084-4991-b2d4-e42c6747adc5	g.chr15:72037466G>A	ENST00000355327.3	+	12	2062	c.1928G>A	c.(1927-1929)cGc>cAc	p.R643H	THSD4_ENST00000261862.6_Missense_Mutation_p.R643H|THSD4_ENST00000567838.1_3'UTR|THSD4_ENST00000357769.4_Missense_Mutation_p.R283H			Q6ZMP0	THSD4_HUMAN	thrombospondin, type I, domain containing 4	643					elastic fiber assembly (GO:0048251)	extracellular vesicular exosome (GO:0070062)|microfibril (GO:0001527)	metalloendopeptidase activity (GO:0004222)			breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						CCTATTTTCCGCTGTGTGCAC	0.542																																						ENST00000355327.3																			0				breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						c.(1927-1929)cGc>cAc		thrombospondin, type I, domain containing 4		G	HIS/ARG	0,4006		0,0,2003	297	300	299		1928	2.9	1	15		299	1,8345		0,1,4172	no	missense	THSD4	NM_024817.2	29	0,1,6175	AA,AG,GG		0.012,0.0,0.0081	benign	643/1019	72037466	1,12351	2003	4173	6176	SO:0001583	missense	79875					proteinaceous extracellular matrix	metalloendopeptidase activity	g.chr15:72037466G>A	AK023772	CCDS10238.2, CCDS66817.1	15q23	2009-11-09			ENSG00000187720	ENSG00000187720			25835	protein-coding gene	gene with protein product		614476				19734141	Standard	NM_001286429		Approved	FVSY9334, PRO34005, FLJ13710, ADAMTSL6	uc002atb.1	Q6ZMP0	OTTHUMG00000133389	ENST00000355327.3:c.1928G>A	15.37:g.72037466G>A	ENSP00000347484:p.Arg643His					THSD4_ENST00000357769.4_Missense_Mutation_p.R283H|THSD4_ENST00000261862.6_Missense_Mutation_p.R643H|THSD4_ENST00000567838.1_3'UTR	p.R643H			Q6ZMP0	THSD4_HUMAN			12	2062	+			643					B2RTY3|B4DR13|Q6MZI3|Q6UXZ8|Q9H8E4	Missense_Mutation	SNP	ENST00000355327.3	37	c.1928G>A	CCDS10238.2	.	.	.	.	.	.	.	.	.	.	G	7.907	0.735646	0.15574	0.0	1.2E-4	ENSG00000187720	ENST00000355327;ENST00000261862;ENST00000357769	T;T;T	0.61040	0.14;0.14;0.14	4.96	2.87	0.33458	.	.	.	.	.	T	0.34077	0.0885	N	0.14661	0.345	0.37248	D	0.906434	B;B	0.19445	0.017;0.036	B;B	0.14023	0.004;0.01	T	0.17806	-1.0357	9	0.14252	T	0.57	.	8.2784	0.31885	0.2135:0.0:0.7865:0.0	.	283;643	B4DR13;Q6ZMP0	.;THSD4_HUMAN	H	643;643;283	ENSP00000347484:R643H;ENSP00000261862:R643H;ENSP00000350413:R283H	ENSP00000261862:R643H	R	+	2	0	THSD4	69824520	0.648000	0.27313	0.997000	0.53966	0.996000	0.88848	0.393000	0.20817	1.249000	0.43950	0.491000	0.48974	CGC		0.542	THSD4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257253.2	NM_024817		92	321	0	0	0	1	0	92	321					A	72037466	G	A	72037466	3	1	413	1	0	0	0	0	1	0	0	0	15875	1087	38	1	1970	1	THSD4	15	72037466	Missense_Mutation	SNP	G	TCGA-VP-A879-01A-11D-A34U-08	37907599	72037466	30493926	45	20045											
GOLGA6A	342096	broad.mit.edu	37	chr15	74368249	74368249	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caaagcctcacctgtgtcacGtgtgcgttcagcagcgcccg	7	8	11	15	4	3	0	3	0	0	0	3	0	3	0	3	0	4	2	3	0	1	1	rs113579971		TCGA-VP-A879-01A-11D-A34U-08	TCGA-VP-A879-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff201859-353a-48ec-80f0-4efbd0274515	d19f8f3a-2084-4991-b2d4-e42c6747adc5	g.chr15:74368249G>A	ENST00000290438.3	-	8	682	c.642C>T	c.(640-642)caC>caT	p.H214H		NM_001038640.2	NP_001033729.2	Q9NYA3	GOG6A_HUMAN	golgin A6 family, member A	214						Golgi apparatus (GO:0005794)				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|liver(1)|lung(6)|prostate(1)|urinary_tract(1)	16						CCTGTGTCACGTGTGCGTTCA	0.582																																						ENST00000290438.3																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|liver(1)|lung(6)|prostate(1)|urinary_tract(1)	16						c.(640-642)caC>caT		golgin A6 family, member A							41	50	47					15																	74368249		2137	4217	6354	SO:0001819	synonymous_variant	342096							g.chr15:74368249G>A	AF263742	CCDS32290.1	15q24.1	2013-05-10	2010-02-12	2009-09-28	ENSG00000159289	ENSG00000159289			13567	protein-coding gene	gene with protein product		610288	"golgi autoantigen, golgin subfamily a, member 6", "golgi autoantigen, golgin subfamily a, 6", "golgi autoantigen, golgin subfamily a, 6A"	GOLGA6		11161787	Standard	NM_001038640		Approved	GLP	uc002axa.1	Q9NYA3	OTTHUMG00000173035	ENST00000290438.3:c.642C>T	15.37:g.74368249G>A							p.H214H	NM_001038640.2	NP_001033729.2	Q9NYA3	GOG6A_HUMAN			8	682	-			214					A8K959|Q9NYA7	Silent	SNP	ENST00000290438.3	37	c.642C>T	CCDS32290.1																																																																																				0.582	GOLGA6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421835.1	XM_292357		4	134	0	0	0	1	0	4	134					A	74368249	G	A	74368249	2	1	413	1	0	0	0	0	0	0	0	1	6557	1136	40	1		1	GOLGA6A	15	74368249	Silent	SNP	G	TCGA-VP-A879-01A-11D-A34U-08	2330783	74368249	28163143	46	20046											
SGK269	79834	broad.mit.edu	37	chr15	77425652	77425652	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtctgcaagagggcccacGccggctggagagggattcca	8	6	15	12	2	1	2	0	0	1	2	2	4	2	3	3	4	1	2	3	4	1	1			TCGA-VP-A879-01A-11D-A34U-08	TCGA-VP-A879-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff201859-353a-48ec-80f0-4efbd0274515	d19f8f3a-2084-4991-b2d4-e42c6747adc5	g.chr15:77425652G>A	ENST00000560626.2	-	6	4247	c.3772C>T	c.(3772-3774)Cgt>Tgt	p.R1258C	PEAK1_ENST00000312493.4_Missense_Mutation_p.R1258C			Q9H792	PEAK1_HUMAN	pseudopodium-enriched atypical kinase 1	1258					cell migration (GO:0016477)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein autophosphorylation (GO:0046777)|substrate adhesion-dependent cell spreading (GO:0034446)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)										GAGGGCCCACGCCGGCTGGAG	0.532																																						ENST00000560626.2																			0											c.(3772-3774)Cgt>Tgt		pseudopodium-enriched atypical kinase 1							78	81	80					15																	77425652		1881	4096	5977	SO:0001583	missense	79834				cell migration|protein autophosphorylation|substrate adhesion-dependent cell spreading	actin cytoskeleton|cytoplasm|focal adhesion	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding	g.chr15:77425652G>A		CCDS42062.1	15q24.3	2013-09-27			ENSG00000173517	ENSG00000173517			29431	protein-coding gene	gene with protein product		614248				16879967, 20534451	Standard	NM_024776		Approved	KIAA2002, sgk269		Q9H792	OTTHUMG00000172618	ENST00000560626.2:c.3772C>T	15.37:g.77425652G>A	ENSP00000452796:p.Arg1258Cys					PEAK1_ENST00000312493.4_Missense_Mutation_p.R1258C	p.R1258C			Q9H792	PEAK1_HUMAN			6	4247	-			1258					Q6ZS78|Q8NAZ4|Q8NCM3|Q8TEG7	Missense_Mutation	SNP	ENST00000560626.2	37	c.3772C>T	CCDS42062.1	.	.	.	.	.	.	.	.	.	.	G	13.70	2.316785	0.40996	.	.	ENSG00000173517	ENST00000312493	T	0.70516	-0.49	5.61	5.61	0.85477	.	0.066872	0.64402	D	0.000019	T	0.68284	0.2984	L	0.27053	0.805	0.51482	D	0.999926	D	0.76494	0.999	P	0.50490	0.642	T	0.69907	-0.5018	10	0.46703	T	0.11	-3.2536	17.8124	0.88620	0.0:0.0:1.0:0.0	.	1258	Q9H792	PEAK1_HUMAN	C	1258	ENSP00000309230:R1258C	ENSP00000309230:R1258C	R	-	1	0	AC087465.1	75212707	1.000000	0.71417	0.998000	0.56505	0.093000	0.18481	2.860000	0.48372	2.651000	0.90000	0.655000	0.94253	CGT		0.532	PEAK1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419483.3			12	91	0	0	0	1	0	12	91					A	77425652	G	A	77425652	3	1	413	1	0	0	0	0	1	0	0	0	14211	1087	38	1	1476	1	SGK269	15	77425652	Missense_Mutation	SNP	G	TCGA-VP-A879-01A-11D-A34U-08	3057403	77425652	25105740	47	20047											
CORO1A	11151	broad.mit.edu	37	chr16	30198525	30198525	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgtgcgcatcatcgagccccGcaaaggcactgtcgtagctg	8	7	12	14	5	1	0	1	0	0	0	3	1	1	0	2	1	3	5	2	1	2	1			TCGA-VP-A879-01A-11D-A34U-08	TCGA-VP-A879-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff201859-353a-48ec-80f0-4efbd0274515	d19f8f3a-2084-4991-b2d4-e42c6747adc5	g.chr16:30198525G>A	ENST00000219150.5	+	5	922	c.617G>A	c.(616-618)cGc>cAc	p.R206H	CORO1A_ENST00000570045.1_Missense_Mutation_p.R206H|RP11-455F5.5_ENST00000568506.1_RNA|CORO1A_ENST00000565497.1_Missense_Mutation_p.R206H|RP11-455F5.5_ENST00000566144.1_RNA|RP11-455F5.5_ENST00000567153.1_RNA	NM_001193333.2|NM_007074.3	NP_001180262.1|NP_009005.1	P31146	COR1A_HUMAN	coronin, actin binding protein, 1A	206					actin cytoskeleton organization (GO:0030036)|actin filament organization (GO:0007015)|calcium ion transport (GO:0006816)|cell-substrate adhesion (GO:0031589)|cellular component movement (GO:0006928)|cellular response to interleukin-4 (GO:0071353)|homeostasis of number of cells within a tissue (GO:0048873)|innate immune response (GO:0045087)|leukocyte chemotaxis (GO:0030595)|negative regulation of actin nucleation (GO:0051126)|phagocytosis (GO:0006909)|phagolysosome assembly (GO:0001845)|positive chemotaxis (GO:0050918)|positive regulation of cell migration (GO:0030335)|positive regulation of T cell proliferation (GO:0042102)|regulation of actin filament polymerization (GO:0030833)|regulation of cell shape (GO:0008360)|T cell homeostasis (GO:0043029)|uropod organization (GO:0032796)	actin filament (GO:0005884)|cell-cell junction (GO:0005911)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|lamellipodium (GO:0030027)|membrane (GO:0016020)|phagocytic cup (GO:0001891)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	actin filament binding (GO:0051015)|cytoskeletal protein binding (GO:0008092)|phosphatidylinositol 3-kinase binding (GO:0043548)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	9						ATCGAGCCCCGCAAAGGCACT	0.577																																						ENST00000219150.5																			0				central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	9						c.(616-618)cGc>cAc		coronin, actin binding protein, 1A							66	64	64					16																	30198525		2197	4300	6497	SO:0001583	missense	11151				cell-substrate adhesion|innate immune response|leukocyte chemotaxis|negative regulation of actin nucleation|phagolysosome assembly|positive chemotaxis|regulation of cell shape|uropod organization	actin filament|cortical actin cytoskeleton|lamellipodium|phagocytic cup|phagocytic vesicle membrane	actin filament binding|phosphatidylinositol 3-kinase binding|protein C-terminus binding|protein homodimerization activity	g.chr16:30198525G>A	X89109	CCDS10673.1	16p11.2	2014-09-17	2001-11-28		ENSG00000102879	ENSG00000102879		"Coronins", "WD repeat domain containing"	2252	protein-coding gene	gene with protein product	"Clabp TACO"	605000	"coronin, actin-binding protein, 1A"			9778037	Standard	NM_007074		Approved	HCORO1, p57, coronin-1	uc002dww.3	P31146	OTTHUMG00000132148	ENST00000219150.5:c.617G>A	16.37:g.30198525G>A	ENSP00000219150:p.Arg206His					CORO1A_ENST00000570045.1_Missense_Mutation_p.R206H|CORO1A_ENST00000565497.1_Missense_Mutation_p.R206H	p.R206H	NM_001193333.2|NM_007074.3	NP_001180262.1|NP_009005.1	P31146	COR1A_HUMAN			5	922	+			206					B2RBL1|Q2YD73	Missense_Mutation	SNP	ENST00000219150.5	37	c.617G>A	CCDS10673.1	.	.	.	.	.	.	.	.	.	.	.	16.58	3.163889	0.57476	.	.	ENSG00000102879	ENST00000219150	T	0.01629	4.72	4.92	4.92	0.64577	WD40/YVTN repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.13586	0.0329	H	0.95679	3.705	0.80722	D	1	D;D	0.89917	0.998;1.0	P;D	0.66351	0.849;0.943	T	0.00130	-1.2015	10	0.54805	T	0.06	1.0273	10.5985	0.45352	0.0892:0.0:0.9108:0.0	.	262;206	Q59G88;P31146	.;COR1A_HUMAN	H	206	ENSP00000219150:R206H	ENSP00000219150:R206H	R	+	2	0	CORO1A	30106026	1.000000	0.71417	1.000000	0.80357	0.590000	0.36582	9.202000	0.95026	2.576000	0.86940	0.561000	0.74099	CGC		0.577	CORO1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255195.2	NM_007074		3	43	0	0	0	1	0	3	43					A	30198525	G	A	30198525	3	1	413	1	0	0	0	0	1	0	0	0	3753	1087	38	1	631	1	CORO1A	16	30198525	Missense_Mutation	SNP	G	TCGA-VP-A879-01A-11D-A34U-08		30198525	60156228	48	20048											
MYH10	4628	broad.mit.edu	37	chr17	8448867	8448867	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gatgcgatgaacgagccagcGaaagagccgctcataggtag	13	5	14	9	4	1	2	1	1	0	1	1	6	1	2	2	1	5	2	2	1	4	2			TCGA-VP-A879-01A-11D-A34U-08	TCGA-VP-A879-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff201859-353a-48ec-80f0-4efbd0274515	d19f8f3a-2084-4991-b2d4-e42c6747adc5	g.chr17:8448867G>A	ENST00000269243.4	-	12	1438	c.1300C>T	c.(1300-1302)Cgc>Tgc	p.R434C	MYH10_ENST00000360416.3_Missense_Mutation_p.R444C|MYH10_ENST00000396239.1_Missense_Mutation_p.R434C|RN7SL129P_ENST00000479993.2_RNA|MYH10_ENST00000379980.4_Missense_Mutation_p.R450C	NM_005964.3	NP_005955.3	P35580	MYH10_HUMAN	myosin, heavy chain 10, non-muscle	434	Myosin motor.				actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cardiac myofibril assembly (GO:0055003)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|cerebellar Purkinje cell layer development (GO:0021680)|exocytosis (GO:0006887)|fourth ventricle development (GO:0021592)|in utero embryonic development (GO:0001701)|lateral ventricle development (GO:0021670)|mitotic cytokinesis (GO:0000281)|neuromuscular process controlling balance (GO:0050885)|neuron migration (GO:0001764)|nuclear migration (GO:0007097)|plasma membrane repair (GO:0001778)|regulation of cell shape (GO:0008360)|retina development in camera-type eye (GO:0060041)|substrate-dependent cell migration, cell extension (GO:0006930)|third ventricle development (GO:0021678)|ventricular cardiac muscle cell development (GO:0055015)	actomyosin (GO:0042641)|axon (GO:0030424)|cell cortex (GO:0005938)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|midbody (GO:0030496)|myosin complex (GO:0016459)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle (GO:0005819)|stress fiber (GO:0001725)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1)	52						ACGAGCCAGCGAAAGAGCCGC	0.403																																						ENST00000360416.3																			0				breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1)	52						c.(1330-1332)Cgc>Tgc		myosin, heavy chain 10, non-muscle							97	98	98					17																	8448867		2203	4300	6503	SO:0001583	missense	4628				actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape	cell cortex|cleavage furrow|midbody|myosin complex|stress fiber	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr17:8448867G>A	M69181	CCDS11144.1, CCDS58515.1, CCDS73984.1	17p13	2011-09-27	2006-09-29		ENSG00000133026	ENSG00000133026		"Myosins / Myosin superfamily : Class II"	7568	protein-coding gene	gene with protein product		160776	"myosin, heavy polypeptide 10, non-muscle"			1860190	Standard	NM_001256012		Approved	NMMHCB	uc002glm.4	P35580	OTTHUMG00000108195	ENST00000269243.4:c.1300C>T	17.37:g.8448867G>A	ENSP00000269243:p.Arg434Cys					MYH10_ENST00000396239.1_Missense_Mutation_p.R434C|MYH10_ENST00000379980.4_Missense_Mutation_p.R450C|MYH10_ENST00000269243.4_Missense_Mutation_p.R434C	p.R444C	NM_001256012.1	NP_001242941.1	P35580	MYH10_HUMAN			13	1468	-			434			Myosin head-like.		B2RWP9|D3DTS1|F8VTL3|Q12989|Q149N3|Q149N4|Q16087|Q4LE45|Q6PK16|Q9BWG0	Missense_Mutation	SNP	ENST00000269243.4	37	c.1330C>T	CCDS11144.1	.	.	.	.	.	.	.	.	.	.	G	32	5.178620	0.94846	.	.	ENSG00000133026	ENST00000269243;ENST00000360416;ENST00000396239;ENST00000379980	D;D;D;D	0.87650	-2.28;-2.28;-2.28;-2.28	5.0	5.0	0.66597	Myosin head, motor domain (2);	0.000000	0.85682	D	0.000000	D	0.93510	0.7929	M	0.79258	2.445	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.77557	0.987;0.987;0.99	D	0.93871	0.7162	10	0.72032	D	0.01	.	18.844	0.92196	0.0:0.0:1.0:0.0	.	443;444;434	B2RWP9;F8VTL3;P35580	.;.;MYH10_HUMAN	C	434;444;434;450	ENSP00000269243:R434C;ENSP00000353590:R444C;ENSP00000379539:R434C;ENSP00000369315:R450C	ENSP00000269243:R434C	R	-	1	0	MYH10	8389592	1.000000	0.71417	0.997000	0.53966	0.988000	0.76386	9.543000	0.98089	2.745000	0.94114	0.655000	0.94253	CGC		0.403	MYH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000227001.2			20	52	0	0	0	1	0	20	52					A	8448867	G	A	8448867	3	1	413	1	0	0	0	0	1	0	0	0	10030	1058	37	2	4750	2	MYH10	17	8448867	Missense_Mutation	SNP	G	TCGA-VP-A879-01A-11D-A34U-08		8448867	72746343	49	20049											
TLK2	11011	broad.mit.edu	37	chr17	60685506	60685506	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagtagtaacacctgaagcAaaggtaagttttgtttgacc	13	11	9	8	0	0	2	0	2	0	0	0	2	0	2	3	1	2	6	3	1	5	6			TCGA-VP-A879-01A-11D-A34U-08	TCGA-VP-A879-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff201859-353a-48ec-80f0-4efbd0274515	d19f8f3a-2084-4991-b2d4-e42c6747adc5	g.chr17:60685506A>G	ENST00000326270.9	+	22	2410	c.2142A>G	c.(2140-2142)gcA>gcG	p.A714A	TLK2_ENST00000343388.7_Silent_p.A660A|TLK2_ENST00000346027.5_Silent_p.A692A|TLK2_ENST00000542523.1_Silent_p.A660A|TLK2_ENST00000582809.1_Silent_p.A543A	NM_001284333.1	NP_001271262.1	Q86UE8	TLK2_HUMAN	tousled-like kinase 2	714	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell cycle (GO:0007049)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|chromatin modification (GO:0016568)|chromosome segregation (GO:0007059)|intracellular signal transduction (GO:0035556)|negative regulation of autophagy (GO:0010507)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|peptidyl-serine phosphorylation (GO:0018105)|protein phosphorylation (GO:0006468)|regulation of chromatin assembly or disassembly (GO:0001672)	intermediate filament (GO:0005882)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(4)|large_intestine(6)|liver(2)|lung(10)|prostate(1)|stomach(1)|urinary_tract(1)	39						CACCTGAAGCAAAGGTAAGTT	0.418																																						ENST00000582809.1																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(4)|large_intestine(6)|liver(2)|lung(10)|prostate(1)|stomach(1)|urinary_tract(1)	39						c.(1627-1629)gcA>gcG		tousled-like kinase 2							66	65	65					17																	60685506		2203	4300	6503	SO:0001819	synonymous_variant	11011				cell cycle|chromatin modification|intracellular signal transduction|regulation of chromatin assembly or disassembly|response to DNA damage stimulus	nucleus	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr17:60685506A>G	AB004884	CCDS11633.1, CCDS45753.1, CCDS62283.1	17q23	2008-07-18							11842	protein-coding gene	gene with protein product		608439				9427565, 10523312	Standard	NM_006852		Approved	PKU-ALPHA, MGC44450	uc002izz.4	Q86UE8		ENST00000326270.9:c.2142A>G	17.37:g.60685506A>G						TLK2_ENST00000542523.1_Silent_p.A660A|TLK2_ENST00000346027.5_Silent_p.A692A|TLK2_ENST00000326270.9_Silent_p.A714A|TLK2_ENST00000343388.7_Silent_p.A660A	p.A543A			Q86UE8	TLK2_HUMAN			22	2332	+			714			Protein kinase.		D3DU07|Q9UKI7|Q9Y4F7	Silent	SNP	ENST00000326270.9	37	c.1629A>G																																																																																					0.418	TLK2-004	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000445140.1	NM_006852		6	33	0	0	0	1	0	6	33					G	60685506	A	G	60685506	2	3	413	1	0	0	0	0	0	0	0	1	15941	117	5	4		4	TLK2	17	60685506	Silent	SNP	A	TCGA-VP-A879-01A-11D-A34U-08	52236639	60685506	20509704	50	20050											
UNC13D	201294	broad.mit.edu	37	chr17	73827403	73827403	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctccaccagcactgtgagtGtgtgggtccagagcagggtc	7	8	14	12	0	0	2	0	1	0	1	3	2	2	2	4	2	2	2	4	2	0	0			TCGA-VP-A879-01A-11D-A34U-08	TCGA-VP-A879-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff201859-353a-48ec-80f0-4efbd0274515	d19f8f3a-2084-4991-b2d4-e42c6747adc5	g.chr17:73827403G>A	ENST00000207549.4	-	26	2853	c.2474C>T	c.(2473-2475)aCa>aTa	p.T825I	UNC13D_ENST00000412096.2_Missense_Mutation_p.T825I	NM_199242.2	NP_954712.1	Q70J99	UN13D_HUMAN	unc-13 homolog D (C. elegans)	825	MHD2. {ECO:0000255|PROSITE- ProRule:PRU00588}.				defense response to virus (GO:0051607)|germinal center formation (GO:0002467)|granuloma formation (GO:0002432)|natural killer cell degranulation (GO:0043320)|phagocytosis (GO:0006909)|positive regulation of exocytosis (GO:0045921)|regulation of mast cell degranulation (GO:0043304)	endosome (GO:0005768)|exocytic vesicle (GO:0070382)|lysosome (GO:0005764)|membrane (GO:0016020)				central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29			all cancers(21;2.11e-06)|Epithelial(20;2.32e-06)|BRCA - Breast invasive adenocarcinoma(9;0.000618)|LUSC - Lung squamous cell carcinoma(166;0.154)			CACTGTGAGTGTGTGGGTCCA	0.657									Familial Hemophagocytic Lymphohistiocytosis																													ENST00000207549.4																			0				central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(2473-2475)aCa>aTa		unc-13 homolog D (C. elegans)							34	39	37					17																	73827403		2203	4300	6503	SO:0001583	missense	201294	Familial Hemophagocytic Lymphohistiocytosis	Familial Cancer Database	FHLH, FHL, Familial Hemophagocytic Reticulosis, FHR	positive regulation of exocytosis|regulation of mast cell degranulation	exocytic vesicle|late endosome|lysosome|membrane|recycling endosome	protein binding	g.chr17:73827403G>A	AK024474	CCDS11730.1	17q25.3	2014-09-17				ENSG00000092929			23147	protein-coding gene	gene with protein product		608897					Standard	NM_199242		Approved	Munc13-4	uc002jpp.3	Q70J99		ENST00000207549.4:c.2474C>T	17.37:g.73827403G>A	ENSP00000207549:p.Thr825Ile					UNC13D_ENST00000412096.2_Missense_Mutation_p.T825I	p.T825I	NM_199242.2	NP_954712.1	Q70J99	UN13D_HUMAN	all cancers(21;2.11e-06)|Epithelial(20;2.32e-06)|BRCA - Breast invasive adenocarcinoma(9;0.000618)|LUSC - Lung squamous cell carcinoma(166;0.154)		26	2853	-			825			MHD2.		B4DWG9|Q9H7K5	Missense_Mutation	SNP	ENST00000207549.4	37	c.2474C>T	CCDS11730.1	.	.	.	.	.	.	.	.	.	.	G	16.36	3.101169	0.56183	.	.	ENSG00000092929	ENST00000207549;ENST00000412096;ENST00000448606	T;T	0.73258	-0.73;-0.73	4.81	4.81	0.61882	Mammalian uncoordinated homology 13, domain 2 (1);Mammalian uncoordinated homology 13, subgroup, domain 2 (1);	0.142200	0.49305	D	0.000152	T	0.56834	0.2012	L	0.31294	0.92	0.44207	D	0.997033	B	0.26577	0.153	B	0.25987	0.065	T	0.53457	-0.8436	10	0.27082	T	0.32	-1.3149	11.2092	0.48788	0.0852:0.0:0.9147:0.0	.	825	Q70J99	UN13D_HUMAN	I	825	ENSP00000207549:T825I;ENSP00000388093:T825I	ENSP00000207549:T825I	T	-	2	0	UNC13D	71338998	1.000000	0.71417	0.967000	0.41034	0.840000	0.47671	3.252000	0.51461	2.485000	0.83878	0.655000	0.94253	ACA		0.657	UNC13D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448847.2	XM_113950		13	26	0	0	0	1	0	13	26					A	73827403	G	A	73827403	3	1	413	1	0	0	0	0	1	0	0	0	16984	1377	48	3	826	3	UNC13D	17	73827403	Missense_Mutation	SNP	G	TCGA-VP-A879-01A-11D-A34U-08	13141897	73827403	7367807	51	20051											
PGLYRP2	114770	broad.mit.edu	37	chr19	15582860	15582860	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gctgcagcagcttcgggcggCcccgataaggcgccgctccc	5	5	14	17	5	0	0	0	0	0	0	2	1	1	0	4	3	3	5	4	3	1	2			TCGA-VP-A879-01A-11D-A34U-08	TCGA-VP-A879-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff201859-353a-48ec-80f0-4efbd0274515	d19f8f3a-2084-4991-b2d4-e42c6747adc5	g.chr19:15582860C>T	ENST00000340880.4	-	3	1664	c.1184G>A	c.(1183-1185)gGc>gAc	p.G395D	PGLYRP2_ENST00000292609.4_Missense_Mutation_p.G395D	NM_052890.3	NP_443122.3	Q96PD5	PGRP2_HUMAN	peptidoglycan recognition protein 2	395					defense response to Gram-positive bacterium (GO:0050830)|detection of bacterium (GO:0016045)|growth of symbiont in host (GO:0044117)|innate immune response (GO:0045087)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of natural killer cell differentiation involved in immune response (GO:0032827)|pattern recognition receptor signaling pathway (GO:0002221)|peptide amidation (GO:0001519)|peptidoglycan catabolic process (GO:0009253)|regulation of inflammatory response (GO:0050727)	extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)	N-acetylmuramoyl-L-alanine amidase activity (GO:0008745)|peptidoglycan binding (GO:0042834)|peptidoglycan receptor activity (GO:0016019)|zinc ion binding (GO:0008270)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(3)|prostate(2)|skin(3)|stomach(2)|urinary_tract(1)	28						CTTCGGGCGGCCCCGATAAGG	0.662																																						ENST00000292609.4																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(3)|prostate(2)|skin(3)|stomach(2)|urinary_tract(1)	28						c.(1183-1185)gGc>gAc		peptidoglycan recognition protein 2							29	28	28					19																	15582860		2202	4299	6501	SO:0001583	missense	114770				defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptide amidation|peptidoglycan catabolic process	extracellular region|intracellular|membrane	N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding	g.chr19:15582860C>T	AY358156	CCDS12330.2	19p13.12	2010-04-27			ENSG00000161031	ENSG00000161031	3.5.1.28		30013	protein-coding gene	gene with protein product	"peptidoglycan recognition protein L precursor", "peptidoglycan recognition protein-like", "N-acetylmuramoyl-L-alanine amidase"	608199				11461926, 12669421, 14506276	Standard	NM_052890		Approved	PGRP-L, PGLYRPL, TAGL-like, tagL, tagL-alpha, tagl-beta, PGRPL	uc002nbf.4	Q96PD5	OTTHUMG00000150690	ENST00000340880.4:c.1184G>A	19.37:g.15582860C>T	ENSP00000345968:p.Gly395Asp					PGLYRP2_ENST00000340880.4_Missense_Mutation_p.G395D	p.G395D			Q96PD5	PGRP2_HUMAN			3	1313	-			395					A8K050|A8K8C7|B2RMZ2|B7ZM33|Q68CK1|Q96N74|Q9UC60	Missense_Mutation	SNP	ENST00000340880.4	37	c.1184G>A	CCDS12330.2	.	.	.	.	.	.	.	.	.	.	C	12.93	2.084755	0.36758	.	.	ENSG00000161031	ENST00000340880;ENST00000292609	T;T	0.17691	2.26;2.26	4.43	3.38	0.38709	Peptidoglycan recognition protein family domain, metazoa/bacteria (1);N-acetylmuramoyl-L-alanine amidase domain (3);	0.179643	0.47852	D	0.000215	T	0.24353	0.0590	L	0.59436	1.845	0.36321	D	0.858225	P;P	0.42871	0.567;0.792	P;B	0.47915	0.561;0.411	T	0.18777	-1.0326	10	0.51188	T	0.08	.	10.7557	0.46234	0.0:0.9033:0.0:0.0967	.	395;395	Q96PD5-2;Q96PD5	.;PGRP2_HUMAN	D	395	ENSP00000345968:G395D;ENSP00000292609:G395D	ENSP00000292609:G395D	G	-	2	0	PGLYRP2	15443860	0.998000	0.40836	0.232000	0.24009	0.014000	0.08584	5.125000	0.64715	0.983000	0.38602	0.561000	0.74099	GGC		0.662	PGLYRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319626.1	NM_052890		6	38	0	0	0	1	0	6	38					T	15582860	C	T	15582860	3	4	413	1	0	0	0	0	1	0	0	0	11794	739	26	3	558	3	PGLYRP2	19	15582860	Missense_Mutation	SNP	C	TCGA-VP-A879-01A-11D-A34U-08		15582860	43546123	52	20052											
CYP4F2	8529	broad.mit.edu	37	chr19	16006353	16006353	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gaccggatgatgtcggggtgGcacaaactgaggagggggga	10	5	20	6	2	0	2	0	2	0	0	1	6	0	5	1	8	1	1	1	8	1	0			TCGA-VP-A879-01A-11D-A34U-08	TCGA-VP-A879-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff201859-353a-48ec-80f0-4efbd0274515	d19f8f3a-2084-4991-b2d4-e42c6747adc5	g.chr19:16006353G>A	ENST00000221700.6	-	3	401	c.306C>T	c.(304-306)tgC>tgT	p.C102C	CYP4F2_ENST00000011989.7_Intron	NM_001082.3	NP_001073.3			cytochrome P450, family 4, subfamily F, polypeptide 2									p.C102C(1)		NS(2)|breast(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						TGTCGGGGTGGCACAAACTGA	0.597																																						ENST00000221700.5																			1	Substitution - coding silent(1)	p.C102C(1)	kidney(1)	NS(2)|breast(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						c.(304-306)tgC>tgT		cytochrome P450, family 4, subfamily F, polypeptide 2							121	130	127					19																	16006353		2203	4300	6503	SO:0001819	synonymous_variant	8529				leukotriene metabolic process|long-chain fatty acid metabolic process|very long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding|protein binding	g.chr19:16006353G>A	U02388	CCDS12336.1	19p13.12	2013-11-11	2003-01-14		ENSG00000186115	ENSG00000186115		"Cytochrome P450s"	2645	protein-coding gene	gene with protein product		604426	"cytochrome P450, subfamily IVF, polypeptide 2"			8424651, 8026587	Standard	NM_001082		Approved		uc002nbs.1	P78329	OTTHUMG00000185995	ENST00000221700.6:c.306C>T	19.37:g.16006353G>A						CYP4F2_ENST00000011989.7_Intron|CYP4F2_ENST00000592328.1_Intron	p.C102C	NM_001082.3	NP_001073.3	P78329	CP4F2_HUMAN			3	401	-			102						Silent	SNP	ENST00000221700.6	37	c.306C>T	CCDS12336.1																																																																																				0.597	CYP4F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460372.3	NM_001082		4	196	0	0	0	1	0	4	196					A	16006353	G	A	16006353	2	1	413	1	0	0	0	0	0	0	0	1	4188	1195	42	3		3	CYP4F2	19	16006353	Silent	SNP	G	TCGA-VP-A879-01A-11D-A34U-08	423493	16006353	43122630	53	20053											
PTPRH	5794	broad.mit.edu	37	chr19	55711746	55711746	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgggtctctgtgccaccaccGtctccagtgtactctaccca	6	10	8	17	2	3	0	0	0	3	0	5	0	3	0	5	1	3	1	5	1	2	2	rs139891947		TCGA-VP-A879-01A-11D-A34U-08	TCGA-VP-A879-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff201859-353a-48ec-80f0-4efbd0274515	d19f8f3a-2084-4991-b2d4-e42c6747adc5	g.chr19:55711746G>A	ENST00000376350.3	-	7	1300	c.1278C>T	c.(1276-1278)gaC>gaT	p.D426D	PTPRH_ENST00000263434.5_Silent_p.D248D|PTPRH_ENST00000588559.1_5'UTR	NM_002842.3	NP_002833.3	Q9HD43	PTPRH_HUMAN	protein tyrosine phosphatase, receptor type, H	426	Fibronectin type-III 5. {ECO:0000255|PROSITE-ProRule:PRU00316}.				apoptotic process (GO:0006915)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(8)|lung(27)|ovary(2)|prostate(5)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	67		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0479)		TGCCACCACCGTCTCCAGTGT	0.522																																						ENST00000376350.3																			0				breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(8)|lung(27)|ovary(2)|prostate(5)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	67						c.(1276-1278)gaC>gaT		protein tyrosine phosphatase, receptor type, H		G	,	1,4405	2.1+/-5.4	0,1,2202	180	150	160		744,1278	-7.6	0	19	dbSNP_134	160	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	PTPRH	NM_001161440.1,NM_002842.3	,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,	248/938,426/1116	55711746	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	5794				apoptosis	cytoplasm|integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr19:55711746G>A		CCDS33110.1, CCDS54321.1	19q13.4	2013-02-11				ENSG00000080031		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Fibronectin type III domain containing"	9672	protein-coding gene	gene with protein product		602510				8294459	Standard	XM_006723312		Approved	SAP-1	uc002qjq.3	Q9HD43		ENST00000376350.3:c.1278C>T	19.37:g.55711746G>A						PTPRH_ENST00000263434.5_Silent_p.D248D|PTPRH_ENST00000588559.1_5'UTR	p.D426D	NM_002842.3	NP_002833.3	Q9HD43	PTPRH_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0479)	7	1300	-		Renal(1328;0.245)	426			Fibronectin type-III 5.		C9JCH2|Q15426|Q2NKN9|Q2NKP0	Silent	SNP	ENST00000376350.3	37	c.1278C>T	CCDS33110.1																																																																																				0.522	PTPRH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452649.1			22	103	0	0	0	1	0	22	103					A	55711746	G	A	55711746	2	1	413	1	0	0	0	0	0	0	0	1	12803	1136	40	1		1	PTPRH	19	55711746	Silent	SNP	G	TCGA-VP-A879-01A-11D-A34U-08	39705393	55711746	3417237	54	20054											
ENTPD6	955	broad.mit.edu	37	chr20	25188018	25188018	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagtacacgtcttccagttcAcccggccccccagaggtacc	8	7	9	17	2	2	1	1	0	1	1	3	2	3	1	6	2	2	3	6	2	2	4			TCGA-VP-A879-01A-11D-A34U-08	TCGA-VP-A879-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff201859-353a-48ec-80f0-4efbd0274515	d19f8f3a-2084-4991-b2d4-e42c6747adc5	g.chr20:25188018A>C	ENST00000376652.4	+	3	524	c.361A>C	c.(361-363)Acc>Ccc	p.T121P	ENTPD6_ENST00000354989.5_Missense_Mutation_p.T104P|ENTPD6_ENST00000433259.2_Missense_Mutation_p.T121P|ENTPD6_ENST00000360031.2_Missense_Mutation_p.T120P			O75354	ENTP6_HUMAN	ectonucleoside triphosphate diphosphohydrolase 6 (putative)	121					response to calcium ion (GO:0051592)|response to magnesium ion (GO:0032026)	cell surface (GO:0009986)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	guanosine-5'-triphosphate,3'-diphosphate diphosphatase activity (GO:0008894)|nucleoside-triphosphatase activity (GO:0017111)|uridine-diphosphatase activity (GO:0045134)	p.T121P(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|prostate(1)|skin(1)	27						CTTCCAGTTCACCCGGCCCCC	0.642																																						ENST00000360031.2																			1	Substitution - Missense(1)	p.T121P(1)	prostate(1)	breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|prostate(1)|skin(1)	27						c.(358-360)Acc>Ccc		ectonucleoside triphosphate diphosphohydrolase 6 (putative)							37	35	36					20																	25188018		2203	4300	6503	SO:0001583	missense	0					Golgi membrane|integral to membrane	nucleoside-diphosphatase activity	g.chr20:25188018A>C	AF039916	CCDS13170.1, CCDS46586.1	20p11.21	2010-06-24	2010-06-24		ENSG00000197586	ENSG00000197586			3368	protein-coding gene	gene with protein product		603160	"interleukin 6 signal transducer-2"	CD39L2, IL6ST2		9676430	Standard	NM_001247		Approved	NTPDase-6, dJ738P15.3	uc002wuj.2	O75354	OTTHUMG00000032116	ENST00000376652.4:c.361A>C	20.37:g.25188018A>C	ENSP00000365840:p.Thr121Pro					ENTPD6_ENST00000433259.2_Missense_Mutation_p.T121P|ENTPD6_ENST00000376652.4_Missense_Mutation_p.T121P|ENTPD6_ENST00000354989.5_Missense_Mutation_p.T104P	p.T120P	NM_001247.2	NP_001238.2	O75354	ENTP6_HUMAN			3	540	+			121					A6NCX6|D3DW49|Q5QPJ2|Q5QPJ5|Q7Z5B5|Q8N3H3|Q8TAS7|Q9UJD1	Missense_Mutation	SNP	ENST00000376652.4	37	c.358A>C	CCDS13170.1	.	.	.	.	.	.	.	.	.	.	A	4.012	-0.000436	0.07819	.	.	ENSG00000197586	ENST00000354989;ENST00000360031;ENST00000376641;ENST00000376652;ENST00000439162;ENST00000417467;ENST00000433259;ENST00000435520;ENST00000418890;ENST00000425813	T;T;T;T;T;T;T;T;T	0.12039	2.72;2.72;2.72;2.72;2.72;2.72;2.72;2.72;2.72	5.07	-1.27	0.09347	.	0.678662	0.15029	N	0.284579	T	0.07413	0.0187	N	0.16233	0.39	0.09310	N	1	P;B;P;P;B;B;P;B	0.42203	0.507;0.324;0.614;0.773;0.244;0.408;0.545;0.403	B;B;B;B;B;B;B;B	0.43623	0.266;0.266;0.425;0.425;0.162;0.319;0.364;0.364	T	0.27331	-1.0077	10	0.30854	T	0.27	-3.5017	3.7147	0.08434	0.3745:0.0:0.4151:0.2104	.	103;121;121;121;104;120;120;121	B4DDM7;B4DNK6;E7EP89;Q5QPI9;O75354-2;D3DW49;Q5QPJ2;O75354	.;.;.;.;.;.;.;ENTP6_HUMAN	P	104;120;17;121;103;103;121;120;104;121	ENSP00000347084:T104P;ENSP00000353131:T120P;ENSP00000365840:T121P;ENSP00000408098:T103P;ENSP00000395064:T103P;ENSP00000401895:T121P;ENSP00000398844:T120P;ENSP00000390511:T104P;ENSP00000390646:T121P	ENSP00000347084:T104P	T	+	1	0	ENTPD6	25136018	0.047000	0.20315	0.033000	0.17914	0.026000	0.11368	0.065000	0.14466	-0.066000	0.12998	-0.381000	0.06696	ACC		0.642	ENTPD6-020	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078414.2			9	33	0	0	0	1	0	9	33					C	25188018	A	C	25188018	3	2	413	1	0	0	0	0	1	0	0	0	5143	159	6	5	374	5	ENTPD6	20	25188018	Missense_Mutation	SNP	A	TCGA-VP-A879-01A-11D-A34U-08		25188018	37837502	55	20055											
IL17RA	23765	broad.mit.edu	37	chr22	17586829	17586829	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctgctcatcgtctgcatgAcctggaggctagctggtaag	7	11	12	11	1	2	1	1	1	1	0	4	2	3	2	2	3	3	5	2	3	2	2			TCGA-VP-A879-01A-11D-A34U-08	TCGA-VP-A879-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff201859-353a-48ec-80f0-4efbd0274515	d19f8f3a-2084-4991-b2d4-e42c6747adc5	g.chr22:17586829A>G	ENST00000319363.6	+	11	1163	c.1030A>G	c.(1030-1032)Acc>Gcc	p.T344A		NM_014339.5	NP_055154.3	Q96F46	I17RA_HUMAN	interleukin 17 receptor A	344					cell surface receptor signaling pathway (GO:0007166)|cytokine-mediated signaling pathway (GO:0019221)|fibroblast activation (GO:0072537)|positive regulation of cytokine production involved in inflammatory response (GO:1900017)|positive regulation of interleukin-23 production (GO:0032747)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	interleukin-17 receptor activity (GO:0030368)			endometrium(2)|large_intestine(8)|lung(16)|ovary(1)|skin(2)|stomach(1)	30		all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132)		Colorectal(9;0.241)		CGTCTGCATGACCTGGAGGCT	0.572																																						ENST00000319363.6																			0				endometrium(2)|large_intestine(8)|lung(16)|ovary(1)|skin(2)|stomach(1)	30						c.(1030-1032)Acc>Gcc		interleukin 17 receptor A							85	68	74					22																	17586829		2203	4300	6503	SO:0001583	missense	23765				fibroblast activation|positive regulation of interleukin-23 production	integral to plasma membrane	interleukin-17 receptor activity	g.chr22:17586829A>G	U58917	CCDS13739.1	22q11.1	2014-09-17	2006-04-26	2006-04-26	ENSG00000177663	ENSG00000177663		"Interleukins and interleukin receptors", "CD molecules"	5985	protein-coding gene	gene with protein product		605461	"interleukin 17 receptor"	IL17R		9367539, 10591208	Standard	NM_014339		Approved	hIL-17R, IL-17RA, CDw217, CD217	uc002zly.4	Q96F46	OTTHUMG00000150026	ENST00000319363.6:c.1030A>G	22.37:g.17586829A>G	ENSP00000320936:p.Thr344Ala						p.T344A	NM_014339.5	NP_055154.3	Q96F46	I17RA_HUMAN		Colorectal(9;0.241)	11	1163	+		all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132)	344					O43844|Q20WK1	Missense_Mutation	SNP	ENST00000319363.6	37	c.1030A>G	CCDS13739.1	.	.	.	.	.	.	.	.	.	.	A	7.196	0.592502	0.13875	.	.	ENSG00000177663	ENST00000319363	T	0.06142	3.34	5.21	1.21	0.21127	.	0.282842	0.30676	N	0.009113	T	0.04048	0.0113	L	0.28115	0.83	0.28939	N	0.891091	B	0.14012	0.009	B	0.14578	0.011	T	0.42464	-0.9450	10	0.15499	T	0.54	-16.846	8.0203	0.30406	0.7373:0.0:0.2627:0.0	.	344	Q96F46	I17RA_HUMAN	A	344	ENSP00000320936:T344A	ENSP00000320936:T344A	T	+	1	0	IL17RA	15966829	0.997000	0.39634	0.986000	0.45419	0.203000	0.24098	0.894000	0.28350	0.098000	0.17522	0.459000	0.35465	ACC		0.572	IL17RA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315820.1	NM_014339		3	48	0	0	0	1	0	3	48					G	17586829	A	G	17586829	3	3	413	1	0	0	0	0	1	0	0	0	7639	275	10	4	1072	4	IL17RA	22	17586829	Missense_Mutation	SNP	A	TCGA-VP-A879-01A-11D-A34U-08		17586829	33717737	56	20056											
PIWIL3	440822	broad.mit.edu	37	chr22	25147435	25147435	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggattctgcttccaatcaatAtcatctactctgtaggtttt	9	17	6	9	0	5	0	2	0	3	0	6	1	6	1	1	2	2	3	1	2	5	7			TCGA-VP-A879-01A-11D-A34U-08	TCGA-VP-A879-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff201859-353a-48ec-80f0-4efbd0274515	d19f8f3a-2084-4991-b2d4-e42c6747adc5	g.chr22:25147435A>G	ENST00000332271.5	-	9	1424	c.1008T>C	c.(1006-1008)gaT>gaC	p.D336D	PIWIL3_ENST00000532537.2_5'UTR|PIWIL3_ENST00000527701.1_Silent_p.D227D|PIWIL3_ENST00000533313.1_Silent_p.D227D	NM_001008496.3|NM_001255975.1	NP_001008496.2|NP_001242904.1	Q7Z3Z3	PIWL3_HUMAN	piwi-like RNA-mediated gene silencing 3	336	PAZ. {ECO:0000255|PROSITE- ProRule:PRU00142}.				cell differentiation (GO:0030154)|gene silencing by RNA (GO:0031047)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|regulation of translation (GO:0006417)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)	RNA binding (GO:0003723)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(15)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						TCCAATCAATATCATCTACTC	0.338																																						ENST00000332271.5																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(15)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						c.(1006-1008)gaT>gaC		piwi-like RNA-mediated gene silencing 3							273	266	268					22																	25147435		2202	4300	6502	SO:0001819	synonymous_variant	440822				cell differentiation|gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatogenesis	cytoplasm	RNA binding	g.chr22:25147435A>G	AB079368	CCDS33623.1	22q11.23	2013-02-15	2013-02-15		ENSG00000184571	ENSG00000184571		"Argonaute/PIWI family"	18443	protein-coding gene	gene with protein product		610314	"piwi-like 3 (Drosophila)"			12906857	Standard	NM_001008496		Approved	HIWI3	uc003abd.2	Q7Z3Z3	OTTHUMG00000150788	ENST00000332271.5:c.1008T>C	22.37:g.25147435A>G						PIWIL3_ENST00000533313.1_Silent_p.D227D|PIWIL3_ENST00000532537.2_5'UTR|PIWIL3_ENST00000527701.1_Silent_p.D227D	p.D336D	NM_001008496.3|NM_001255975.1	NP_001008496.2|NP_001242904.1	Q7Z3Z3	PIWL3_HUMAN			9	1424	-			336			PAZ.			Silent	SNP	ENST00000332271.5	37	c.1008T>C	CCDS33623.1																																																																																				0.338	PIWIL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320084.2	NM_001008496		43	123	0	0	0	1	0	43	123					G	25147435	A	G	25147435	2	3	413	1	0	0	0	0	0	0	0	1	11959	446	16	4		4	PIWIL3	22	25147435	Silent	SNP	A	TCGA-VP-A879-01A-11D-A34U-08	7560606	25147435	26157131	57	20057											
SSTR3	6753	broad.mit.edu	37	chr22	37602985	37602985	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccaaagaaggcaggctcctcGggcagtgggcacaccacgtt	10	5	13	13	2	0	1	0	0	0	1	2	1	1	1	3	4	0	5	3	4	2	1	rs150814143	byFrequency	TCGA-VP-A879-01A-11D-A34U-08	TCGA-VP-A879-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff201859-353a-48ec-80f0-4efbd0274515	d19f8f3a-2084-4991-b2d4-e42c6747adc5	g.chr22:37602985G>A	ENST00000328544.3	-	2	1391	c.858C>T	c.(856-858)ccC>ccT	p.P286P	SSTR3_ENST00000402501.1_Silent_p.P286P	NM_001051.3	NP_001042.1	P32745	SSR3_HUMAN	somatostatin receptor 3	286					cell-cell signaling (GO:0007267)|cellular response to estradiol stimulus (GO:0071392)|cellular response to glucocorticoid stimulus (GO:0071385)|cerebellum development (GO:0021549)|forebrain development (GO:0030900)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|hormone-mediated apoptotic signaling pathway (GO:0008628)|negative regulation of cell proliferation (GO:0008285)|response to starvation (GO:0042594)|somatostatin signaling pathway (GO:0038170)|spermatogenesis (GO:0007283)	ciliary membrane (GO:0060170)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|nonmotile primary cilium (GO:0031513)|plasma membrane (GO:0005886)	somatostatin receptor activity (GO:0004994)			NS(1)|breast(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)	14					Pasireotide(DB06663)	CAGGCTCCTCGGGCAGTGGGC	0.617													G|||	6	0.00119808	0	0	5008	,	,		15865	0.006		0	False		,,,				2504	0					ENST00000328544.3																			0				NS(1)|breast(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)	14						c.(856-858)ccC>ccT		somatostatin receptor 3							103	73	84					22																	37602985		2203	4300	6503	SO:0001819	synonymous_variant	0				G-protein signaling, coupled to cyclic nucleotide second messenger|induction of apoptosis by hormones|negative regulation of cell proliferation	integral to plasma membrane|nonmotile primary cilium	somatostatin receptor activity	g.chr22:37602985G>A		CCDS13944.1	22q13.1	2012-08-08			ENSG00000183473	ENSG00000278195		"GPCR / Class A : Somatostatin receptors"	11332	protein-coding gene	gene with protein product		182453				8449518	Standard	XM_006724311		Approved		uc003arb.3	P32745	OTTHUMG00000150537	ENST00000328544.3:c.858C>T	22.37:g.37602985G>A						SSTR3_ENST00000402501.1_Silent_p.P286P	p.P286P	NM_001051.3	NP_001042.1	P32745	SSR3_HUMAN			2	1391	-			286					A8K550|Q53ZR7	Silent	SNP	ENST00000328544.3	37	c.858C>T	CCDS13944.1																																																																																				0.617	SSTR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318802.1			14	74	0	0	0	1	0	14	74					A	37602985	G	A	37602985	2	1	413	1	0	0	0	0	0	0	0	1	15198	1103	39	2		2	SSTR3	22	37602985	Silent	SNP	G	TCGA-VP-A879-01A-11D-A34U-08	12455550	37602985	13701581	58	20058											
FOXR2	139628	broad.mit.edu	37	chrX	55650284	55650284	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tttagctgagcaaatccttgCcaaatacagagtcggagtaa	14	10	9	8	1	0	2	0	1	0	1	2	3	1	3	2	1	4	3	2	1	5	5			TCGA-VP-A879-01A-11D-A34U-08	TCGA-VP-A879-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff201859-353a-48ec-80f0-4efbd0274515	d19f8f3a-2084-4991-b2d4-e42c6747adc5	g.chrX:55650284C>T	ENST00000339140.3	+	1	452	c.140C>T	c.(139-141)gCc>gTc	p.A47V		NM_198451.3	NP_940853.1	Q6PJQ5	FOXR2_HUMAN	forkhead box R2	47					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	19						CAAATCCTTGCCAAATACAGA	0.527																																						ENST00000339140.3																			0				biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	19						c.(139-141)gCc>gTc		forkhead box R2							91	83	86					X																	55650284		2203	4300	6503	SO:0001583	missense	139628				embryo development|organ development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chrX:55650284C>T	BC012934	CCDS35308.1	Xp11	2006-12-15			ENSG00000189299	ENSG00000189299		"Forkhead boxes"	30469	protein-coding gene	gene with protein product						15202009, 15202027	Standard	NM_198451		Approved	MGC21658, FOXN6	uc004duo.3	Q6PJQ5	OTTHUMG00000021661	ENST00000339140.3:c.140C>T	X.37:g.55650284C>T	ENSP00000427329:p.Ala47Val						p.A47V	NM_198451.3	NP_940853.1	Q6PJQ5	FOXR2_HUMAN			1	452	+			47						Missense_Mutation	SNP	ENST00000339140.3	37	c.140C>T	CCDS35308.1	.	.	.	.	.	.	.	.	.	.	C	8.101	0.776688	0.16120	.	.	ENSG00000189299	ENST00000339140	D	0.94330	-3.4	4.0	-2.26	0.06867	.	1.026640	0.07741	N	0.946890	D	0.89774	0.6812	L	0.58810	1.83	0.09310	N	1	P	0.44986	0.847	B	0.40864	0.342	T	0.80710	-0.1261	10	0.72032	D	0.01	.	5.1521	0.15015	0.0:0.3178:0.1582:0.524	.	47	Q6PJQ5	FOXR2_HUMAN	V	47	ENSP00000427329:A47V	ENSP00000427329:A47V	A	+	2	0	FOXR2	55667009	0.012000	0.17670	0.000000	0.03702	0.002000	0.02628	-0.455000	0.06762	-0.935000	0.03728	-0.945000	0.02674	GCC		0.527	FOXR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056877.2	NM_198451		3	34	0	0	0	1	0	3	34					T	55650284	C	T	55650284	3	4	413	1	0	0	0	0	1	0	0	0	6032	739	26	3	142	3	FOXR2	23	55650284	Missense_Mutation	SNP	C	TCGA-VP-A879-01A-11D-A34U-08		55650284	99620276	59	20059											
MAGEA10	4109	broad.mit.edu	37	chrX	151303840	151303840	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcaggctatctgagcactctGgggaggatttggtgtctcat	7	12	14	8	0	3	1	1	1	3	0	4	3	3	3	0	5	1	3	0	5	1	2			TCGA-VP-A879-01A-11D-A34U-08	TCGA-VP-A879-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff201859-353a-48ec-80f0-4efbd0274515	d19f8f3a-2084-4991-b2d4-e42c6747adc5	g.chrX:151303840G>T	ENST00000370323.4	-	4	569	c.253C>A	c.(253-255)Cag>Aag	p.Q85K	MAGEA10_ENST00000244096.3_Missense_Mutation_p.Q85K|RP11-1007I13.4_ENST00000509345.2_RNA	NM_001251828.1|NM_021048.4	NP_001238757.1|NP_066386	P43363	MAGAA_HUMAN	melanoma antigen family A, 10	85						nucleus (GO:0005634)				endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					TGAGCACTCTGGGGAGGATTT	0.542																																						ENST00000370323.4																			0				endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						c.(253-255)Cag>Aag		melanoma antigen family A, 10							160	160	160					X																	151303840		2203	4300	6503	SO:0001583	missense	4109							g.chrX:151303840G>T		CCDS14705.1	Xq28	2009-03-13			ENSG00000124260	ENSG00000124260			6797	protein-coding gene	gene with protein product	"MAGE-10 antigen", "melanoma-associated antigen 10", "cancer/testis antigen family 1, member 10"	300343		MAGE10		8575766	Standard	NM_001011543		Approved	MGC10599, CT1.10	uc004ffl.3	P43363	OTTHUMG00000024180	ENST00000370323.4:c.253C>A	X.37:g.151303840G>T	ENSP00000359347:p.Gln85Lys					RP11-1007I13.4_ENST00000509345.2_RNA|MAGEA10_ENST00000244096.3_Missense_Mutation_p.Q85K	p.Q85K	NM_001251828.1|NM_021048.4	NP_001238757.1|NP_066386.2	P43363	MAGAA_HUMAN			4	569	-	Acute lymphoblastic leukemia(192;6.56e-05)		85						Missense_Mutation	SNP	ENST00000370323.4	37	c.253C>A	CCDS14705.1	.	.	.	.	.	.	.	.	.	.	G	8.183	0.794356	0.16327	.	.	ENSG00000124260	ENST00000370323;ENST00000244096;ENST00000444834;ENST00000427322	T;T;T;T	0.06933	3.24;3.24;3.24;3.24	2.12	2.12	0.27331	Melanoma associated antigen, MAGE, N-terminal (1);	1.964930	0.02547	N	0.095199	T	0.23532	0.0569	M	0.73598	2.24	0.09310	N	1	P	0.50272	0.933	P	0.54706	0.759	T	0.08554	-1.0716	10	0.56958	D	0.05	.	7.0466	0.25048	0.0:0.0:1.0:0.0	.	85	P43363	MAGAA_HUMAN	K	85	ENSP00000359347:Q85K;ENSP00000244096:Q85K;ENSP00000406161:Q85K;ENSP00000391977:Q85K	ENSP00000244096:Q85K	Q	-	1	0	MAGEA10	151054496	0.017000	0.18338	0.002000	0.10522	0.381000	0.30169	1.637000	0.37155	1.348000	0.45733	0.292000	0.19580	CAG		0.542	MAGEA10-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060916.3	NM_021048		5	101	1	0	1	1	1	5	101					T	151303840	G	T	151303840	3	4	413	1	0	0	0	0	1	0	0	0	9164	1357	47	5	860	5	MAGEA10	23	151303840	Missense_Mutation	SNP	G	TCGA-VP-A879-01A-11D-A34U-08	95653556	151303840	3966720	60	20060											
KIF17	57576	broad.mit.edu	37	chr1	21009257	21009257	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tcctcatccgagttctgcagGgcagccaccagctgcttcct	6	10	9	16	1	2	0	1	0	1	0	5	1	5	0	5	1	4	5	5	1	0	2			TCGA-VP-A87B-01A-11D-A34U-08	TCGA-VP-A87B-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba2e9eb3-d530-49c4-ae78-d3069862fc71	4d2a435f-5ae8-4a20-be13-cf9208534cd2	g.chr1:21009257G>A	ENST00000247986.2	-	11	2662	c.2352C>T	c.(2350-2352)gcC>gcT	p.A784A	KIF17_ENST00000490034.1_5'UTR|KIF17_ENST00000400463.3_Silent_p.A784A|KIF17_ENST00000375044.1_Silent_p.A684A			Q9P2E2	KIF17_HUMAN	kinesin family member 17	784					ATP catabolic process (GO:0006200)|cell projection organization (GO:0030030)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|neurogenesis (GO:0022008)|protein complex localization (GO:0031503)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|intraciliary transport particle B (GO:0030992)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|plus-end-directed microtubule motor activity (GO:0008574)			NS(2)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50		all_lung(284;2.99e-05)|Lung NSC(340;3.26e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|COAD - Colon adenocarcinoma(152;1.43e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000168)|Kidney(64;0.000221)|GBM - Glioblastoma multiforme(114;0.000651)|KIRC - Kidney renal clear cell carcinoma(64;0.0031)|STAD - Stomach adenocarcinoma(196;0.00336)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.209)		AGTTCTGCAGGGCAGCCACCA	0.607																																						ENST00000247986.2																			0				NS(2)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50						c.(2350-2352)gcC>gcT		kinesin family member 17							78	69	72					1																	21009257		2203	4300	6503	SO:0001819	synonymous_variant	57576				microtubule-based movement|protein transport	cytoplasm|microtubule	ATP binding	g.chr1:21009257G>A	AB037826	CCDS213.1, CCDS44079.1, CCDS72722.1	1p36.13	2012-08-01			ENSG00000117245	ENSG00000117245		"Kinesins"	19167	protein-coding gene	gene with protein product	"kinesin-like protein KIF17", "KIF3-related motor protein", "KIF17 variant protein"	605037				10846156	Standard	XR_241202		Approved	KIAA1405, KIF3X, KIF17B, OSM-3, KLP-2	uc001bdr.4	Q9P2E2	OTTHUMG00000002863	ENST00000247986.2:c.2352C>T	1.37:g.21009257G>A						KIF17_ENST00000375044.1_Silent_p.A684A|KIF17_ENST00000490034.1_5'UTR|KIF17_ENST00000400463.3_Silent_p.A784A	p.A784A			Q9P2E2	KIF17_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|COAD - Colon adenocarcinoma(152;1.43e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000168)|Kidney(64;0.000221)|GBM - Glioblastoma multiforme(114;0.000651)|KIRC - Kidney renal clear cell carcinoma(64;0.0031)|STAD - Stomach adenocarcinoma(196;0.00336)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.209)	11	2662	-		all_lung(284;2.99e-05)|Lung NSC(340;3.26e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)	784					A2A3Q7|A2A3Q8|O95077|Q53YS6|Q5VWA9|Q6GSA8|Q8N411	Silent	SNP	ENST00000247986.2	37	c.2352C>T	CCDS213.1																																																																																				0.607	KIF17-009	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276995.1	NM_020816		14	42	0	0	0	1	0	14	42					A	21009257	G	A	21009257	2	1	414	1	0	0	0	0	0	0	0	1	8279	1219	43	3		3	KIF17	1	21009257	Silent	SNP	G	TCGA-VP-A87B-01A-11D-A34U-08		21009257	228241364	1	20061											
HSPG2	3339	broad.mit.edu	37	chr1	22168751	22168751	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cggtaggaagacccctcactGggcgggacggtgactgtgaa	9	6	16	10	3	1	3	1	2	0	1	1	5	1	5	2	5	0	1	2	5	3	1			TCGA-VP-A87B-01A-11D-A34U-08	TCGA-VP-A87B-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba2e9eb3-d530-49c4-ae78-d3069862fc71	4d2a435f-5ae8-4a20-be13-cf9208534cd2	g.chr1:22168751G>T	ENST00000374695.3	-	68	9112	c.9033C>A	c.(9031-9033)ccC>ccA	p.P3011P		NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	3011	Ig-like C2-type 15.				angiogenesis (GO:0001525)|brain development (GO:0007420)|carbohydrate metabolic process (GO:0005975)|cardiac muscle tissue development (GO:0048738)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|chondrocyte differentiation (GO:0002062)|chondroitin sulfate metabolic process (GO:0030204)|embryonic skeletal system morphogenesis (GO:0048704)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|lipoprotein metabolic process (GO:0042157)|phototransduction, visible light (GO:0007603)|protein localization (GO:0008104)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	basal lamina (GO:0005605)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Palifermin(DB00039)	ACCCCTCACTGGGCGGGACGG	0.652																																						ENST00000374695.3																			0				breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127						c.(9031-9033)ccC>ccA		heparan sulfate proteoglycan 2	Becaplermin(DB00102)|Palifermin(DB00039)						58	54	55					1																	22168751		2203	4300	6503	SO:0001819	synonymous_variant	3339				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding	g.chr1:22168751G>T	M85289	CCDS30625.1	1p36.1-p35	2013-01-29	2007-02-16	2007-02-16	ENSG00000142798	ENSG00000142798		"Proteoglycans / Extracellular Matrix : Other", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5273	protein-coding gene	gene with protein product	"perlecan proteoglycan"	142461	"Schwartz-Jampel syndrome 1 (chondrodystrophic myotonia)"	SJS1		1685141, 11941538	Standard	XM_005245863		Approved	perlecan, PRCAN	uc001bfj.3	P98160	OTTHUMG00000002674	ENST00000374695.3:c.9033C>A	1.37:g.22168751G>T							p.P3011P	NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	68	9112	-		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)	3011			Ig-like C2-type 15.		Q16287|Q5SZI3|Q9H3V5	Silent	SNP	ENST00000374695.3	37	c.9033C>A	CCDS30625.1																																																																																				0.652	HSPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007598.1	NM_005529		4	54	1	0	0.00024832	1	0.000260736	4	54					T	22168751	G	T	22168751	2	4	414	1	0	0	0	0	0	0	0	1	7430	1335	47	5		5	HSPG2	1	22168751	Silent	SNP	G	TCGA-VP-A87B-01A-11D-A34U-08	1159494	22168751	227081870	2	20062											
RBMXL1	494115	broad.mit.edu	37	chr1	89448492	89448492	+	Silent	SNP	T	T	G																															tctttcttgtctgccaacccTgtcacaacttgagtagagat																										TCGA-VP-A87B-01A-11D-A34U-08	TCGA-VP-A87B-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba2e9eb3-d530-49c4-ae78-d3069862fc71	4d2a435f-5ae8-4a20-be13-cf9208534cd2	g.chr1:89448492T>G	ENST00000321792.5	-	2	1445	c.1018A>C	c.(1018-1020)Agg>Cgg	p.R340R	CCBL2_ENST00000370485.2_Intron|RBMXL1_ENST00000399794.2_Silent_p.R340R|CCBL2_ENST00000370491.3_Intron|CCBL2_ENST00000260508.4_Intron|CCBL2_ENST00000446900.2_Intron|RBMXL1_ENST00000413769.1_5'Flank	NM_019610.5	NP_062556.2	Q96E39	RMXL1_HUMAN	RNA binding motif protein, X-linked-like 1	340	Ser-rich.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)										CTGCCAACCCTGTCACAACTT	0.507																																						ENST00000399794.2																			0											c.(1018-1020)Agg>Cgg		RNA binding motif protein, X-linked-like 1							180	181	181					1																	89448492		2203	4300	6503	SO:0001819	synonymous_variant	494115						nucleotide binding|RNA binding	g.chr1:89448492T>G	BC012942	CCDS716.1	1p22.2	2013-02-12	2007-01-04	2007-01-04	ENSG00000213516	ENSG00000213516		"RNA binding motif (RRM) containing"	25073	protein-coding gene	gene with protein product	"kynurenine aminotransferase III"					10441733	Standard	NM_019610		Approved	KAT3	uc001dms.3	Q96E39	OTTHUMG00000010661	ENST00000321792.5:c.1018A>C	1.37:g.89448492T>G						CCBL2_ENST00000446900.2_Intron|RBMXL1_ENST00000321792.5_Silent_p.R340R|CCBL2_ENST00000370485.2_Intron|CCBL2_ENST00000260508.4_Intron|CCBL2_ENST00000370491.3_Intron	p.R340R	NM_001162536.2	NP_001156008.1	Q96E39	RBMXL_HUMAN			3	1733	-			340			Ser-rich.			Silent	SNP	ENST00000321792.5	37	c.1018A>C	CCDS716.1																																																																																				0.507	RBMXL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029403.3	NM_019610		5	188	0	0	0	1	0	5	188					G	89448492	T	G	89448492	2	3	414	1	0	0	0	0	0	0	0	1	13153	1579	55	5		5	RBMXL1	1	89448492	Silent	SNP	T	TCGA-VP-A87B-01A-11D-A34U-08	67279741	89448492	159802129	3	20063	102	2									
RBMXL1	494115	broad.mit.edu	37	chr1	89448493	89448493	+	Silent	SNP	G	G	A																															ctttcttgtctgccaaccctGtcacaacttgagtagagatc																										TCGA-VP-A87B-01A-11D-A34U-08	TCGA-VP-A87B-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba2e9eb3-d530-49c4-ae78-d3069862fc71	4d2a435f-5ae8-4a20-be13-cf9208534cd2	g.chr1:89448493G>A	ENST00000321792.5	-	2	1444	c.1017C>T	c.(1015-1017)gaC>gaT	p.D339D	CCBL2_ENST00000370485.2_Intron|RBMXL1_ENST00000399794.2_Silent_p.D339D|CCBL2_ENST00000370491.3_Intron|CCBL2_ENST00000260508.4_Intron|CCBL2_ENST00000446900.2_Intron|RBMXL1_ENST00000413769.1_5'Flank	NM_019610.5	NP_062556.2	Q96E39	RMXL1_HUMAN	RNA binding motif protein, X-linked-like 1	339	Ser-rich.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)										TGCCAACCCTGTCACAACTTG	0.507																																						ENST00000399794.2																			0											c.(1015-1017)gaC>gaT		RNA binding motif protein, X-linked-like 1							181	182	182					1																	89448493		2203	4300	6503	SO:0001819	synonymous_variant	494115						nucleotide binding|RNA binding	g.chr1:89448493G>A	BC012942	CCDS716.1	1p22.2	2013-02-12	2007-01-04	2007-01-04	ENSG00000213516	ENSG00000213516		"RNA binding motif (RRM) containing"	25073	protein-coding gene	gene with protein product	"kynurenine aminotransferase III"					10441733	Standard	NM_019610		Approved	KAT3	uc001dms.3	Q96E39	OTTHUMG00000010661	ENST00000321792.5:c.1017C>T	1.37:g.89448493G>A						CCBL2_ENST00000446900.2_Intron|RBMXL1_ENST00000321792.5_Silent_p.D339D|CCBL2_ENST00000370485.2_Intron|CCBL2_ENST00000260508.4_Intron|CCBL2_ENST00000370491.3_Intron	p.D339D	NM_001162536.2	NP_001156008.1	Q96E39	RBMXL_HUMAN			3	1732	-			339			Ser-rich.			Silent	SNP	ENST00000321792.5	37	c.1017C>T	CCDS716.1																																																																																				0.507	RBMXL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029403.3	NM_019610		5	186	0	0	0	1	0	5	186					A	89448493	G	A	89448493	2	1	414	1	0	0	0	0	0	0	0	1	13153	1368	48	3		3	RBMXL1	1	89448493	Silent	SNP	G	TCGA-VP-A87B-01A-11D-A34U-08	1	89448493	159802128	4	20064	102	2									
KCNA3	3738	broad.mit.edu	37	chr1	111217006	111217006	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aagaagtactcgttgcggagCgggtcgaagtacctcatgcg	10	8	14	9	5	1	1	1	0	0	1	3	3	1	2	1	2	5	3	1	2	5	3			TCGA-VP-A87B-01A-11D-A34U-08	TCGA-VP-A87B-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba2e9eb3-d530-49c4-ae78-d3069862fc71	4d2a435f-5ae8-4a20-be13-cf9208534cd2	g.chr1:111217006C>T	ENST00000369769.2	-	1	649	c.426G>A	c.(424-426)ccG>ccA	p.P142P		NM_002232.3	NP_002223.3	P22001	KCNA3_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 3	142					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	membrane raft (GO:0045121)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|outward rectifier potassium channel activity (GO:0015271)|voltage-gated ion channel activity (GO:0005244)			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(7)|ovary(4)|pancreas(1)|prostate(3)|skin(1)	38		all_cancers(81;3.92e-06)|all_epithelial(167;1.28e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Lung(183;0.0235)|Colorectal(144;0.0306)|all cancers(265;0.0752)|Epithelial(280;0.0821)|COAD - Colon adenocarcinoma(174;0.132)|LUSC - Lung squamous cell carcinoma(189;0.133)	Dalfampridine(DB06637)	CGTTGCGGAGCGGGTCGAAGT	0.652																																						ENST00000369769.2																			0				endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(7)|ovary(4)|pancreas(1)|prostate(3)|skin(1)	38						c.(424-426)ccG>ccA		potassium voltage-gated channel, shaker-related subfamily, member 3							58	67	64					1																	111217006		2203	4300	6503	SO:0001819	synonymous_variant	3738					voltage-gated potassium channel complex	delayed rectifier potassium channel activity	g.chr1:111217006C>T	L23499	CCDS828.2	1p13.3	2012-07-05			ENSG00000177272	ENSG00000177272		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6221	protein-coding gene	gene with protein product		176263				2251283, 16382104	Standard	NM_002232		Approved	Kv1.3, MK3, HLK3, HPCN3	uc001dzv.1	P22001	OTTHUMG00000034493	ENST00000369769.2:c.426G>A	1.37:g.111217006C>T							p.P142P	NM_002232.3	NP_002223.3	P22001	KCNA3_HUMAN		Lung(183;0.0235)|Colorectal(144;0.0306)|all cancers(265;0.0752)|Epithelial(280;0.0821)|COAD - Colon adenocarcinoma(174;0.132)|LUSC - Lung squamous cell carcinoma(189;0.133)	1	649	-		all_cancers(81;3.92e-06)|all_epithelial(167;1.28e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)	142					Q5VWN2	Silent	SNP	ENST00000369769.2	37	c.426G>A	CCDS828.2																																																																																				0.652	KCNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083391.1	NM_002232		6	110	0	0	0	1	0	6	110					T	111217006	C	T	111217006	2	4	414	1	0	0	0	0	0	0	0	1	8004	755	27	1		1	KCNA3	1	111217006	Silent	SNP	C	TCGA-VP-A87B-01A-11D-A34U-08	21768513	111217006	138033615	5	20065											
AP4B1	10717	broad.mit.edu	37	chr1	114442579	114442579	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cagacacatccgtgcagtacCctcgaagctcctctagcacc	10	7	7	17	2	1	1	0	0	1	1	4	2	3	1	4	0	4	4	4	0	3	2			TCGA-VP-A87B-01A-11D-A34U-08	TCGA-VP-A87B-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba2e9eb3-d530-49c4-ae78-d3069862fc71	4d2a435f-5ae8-4a20-be13-cf9208534cd2	g.chr1:114442579C>T	ENST00000369569.1	-	5	1341	c.1061G>A	c.(1060-1062)gGg>gAg	p.G354E	AP4B1_ENST00000369566.3_Missense_Mutation_p.G261E|AP4B1_ENST00000462591.1_5'Flank|AP4B1_ENST00000369567.1_Missense_Mutation_p.G186E|AP4B1_ENST00000256658.4_Missense_Mutation_p.G354E|AP4B1-AS1_ENST00000419536.1_RNA	NM_001253852.1	NP_001240781.1	Q9Y6B7	AP4B1_HUMAN	adaptor-related protein complex 4, beta 1 subunit	354					intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	clathrin adaptor complex (GO:0030131)|coated pit (GO:0005905)|trans-Golgi network (GO:0005802)	protein transporter activity (GO:0008565)|transporter activity (GO:0005215)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|ovary(3)|prostate(3)	25	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.1e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CGTGCAGTACCCTCGAAGCTC	0.527																																						ENST00000369569.1																			0				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|ovary(3)|prostate(3)	25						c.(1060-1062)gGg>gAg		adaptor-related protein complex 4, beta 1 subunit							277	269	272					1																	114442579		2203	4300	6503	SO:0001583	missense	10717				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|soluble fraction|trans-Golgi network	protein binding|protein transporter activity	g.chr1:114442579C>T	AF092094	CCDS865.1	1p13.2	2012-03-30			ENSG00000134262	ENSG00000134262			572	protein-coding gene	gene with protein product	"beta 4 subunit of AP-4"	607245	"spastic paraplegia 47"	SPG47		10066790	Standard	NM_006594		Approved	BETA-4	uc001eeb.3	Q9Y6B7	OTTHUMG00000011943	ENST00000369569.1:c.1061G>A	1.37:g.114442579C>T	ENSP00000358582:p.Gly354Glu					AP4B1_ENST00000369566.3_Missense_Mutation_p.G261E|AP4B1-AS1_ENST00000419536.1_RNA|AP4B1_ENST00000369567.1_Missense_Mutation_p.G186E|AP4B1_ENST00000256658.4_Missense_Mutation_p.G354E	p.G354E	NM_001253852.1	NP_001240781.1	Q9Y6B7	AP4B1_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	5	1341	-	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.1e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)	354					B7Z4X3|Q59EJ4|Q96CL6	Missense_Mutation	SNP	ENST00000369569.1	37	c.1061G>A	CCDS865.1	.	.	.	.	.	.	.	.	.	.	C	14.22	2.469874	0.43839	.	.	ENSG00000134262	ENST00000369567;ENST00000369569;ENST00000256658;ENST00000369566;ENST00000369564	T;T;T;T;T	0.22945	1.93;1.93;1.93;2.86;1.93	5.03	4.09	0.47781	Clathrin/coatomer adaptor, adaptin-like, N-terminal (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.200747	0.53938	D	0.000060	T	0.02119	0.0066	N	0.01140	-0.99	0.48395	D	0.999644	B;B;B;B	0.33022	0.025;0.005;0.394;0.003	B;B;B;B	0.31946	0.021;0.008;0.138;0.005	T	0.40156	-0.9578	10	0.02654	T	1	.	7.0196	0.24907	0.1499:0.7091:0.0:0.1409	.	261;186;354;255	B7Z4X3;B1ALD0;Q9Y6B7;B4DTG3	.;.;AP4B1_HUMAN;.	E	186;354;354;261;279	ENSP00000358580:G186E;ENSP00000358582:G354E;ENSP00000256658:G354E;ENSP00000358579:G261E;ENSP00000358577:G279E	ENSP00000256658:G354E	G	-	2	0	AP4B1	114244102	0.573000	0.26676	0.998000	0.56505	0.988000	0.76386	2.321000	0.43805	2.487000	0.83934	0.462000	0.41574	GGG		0.527	AP4B1-009	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033037.1	NM_006594		145	208	0	0	0	1	0	145	208					T	114442579	C	T	114442579	3	4	414	1	0	0	0	0	1	0	0	0	751	623	22	3	1182	3	AP4B1	1	114442579	Missense_Mutation	SNP	C	TCGA-VP-A87B-01A-11D-A34U-08	3225573	114442579	134808042	6	20066											
ILDR2	387597	broad.mit.edu	37	chr1	166890544	166890544	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcagcgaaggccgccagctcGtccatggaaacggccggcac	9	4	13	15	5	1	0	1	0	0	0	3	2	2	1	4	4	3	2	4	4	2	0			TCGA-VP-A87B-01A-11D-A34U-08	TCGA-VP-A87B-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba2e9eb3-d530-49c4-ae78-d3069862fc71	4d2a435f-5ae8-4a20-be13-cf9208534cd2	g.chr1:166890544G>C	ENST00000271417.3	-	9	1339	c.1284C>G	c.(1282-1284)gaC>gaG	p.D428E	ILDR2_ENST00000529071.1_Missense_Mutation_p.D409E|ILDR2_ENST00000528703.1_Missense_Mutation_p.D369E|ILDR2_ENST00000526687.1_Missense_Mutation_p.D320E|ILDR2_ENST00000529387.1_Intron|ILDR2_ENST00000469934.2_Intron|ILDR2_ENST00000525740.1_Missense_Mutation_p.D301E	NM_199351.2	NP_955383.1	Q71H61	ILDR2_HUMAN	immunoglobulin-like domain containing receptor 2	428					cell differentiation (GO:0030154)|homeostasis of number of cells within a tissue (GO:0048873)|insulin secretion (GO:0030073)|pancreas development (GO:0031016)|response to glucose (GO:0009749)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				NS(3)|breast(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	22						CCGCCAGCTCGTCCATGGAAA	0.711																																						ENST00000271417.3																			0				NS(3)|breast(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	22						c.(1282-1284)gaC>gaG		immunoglobulin-like domain containing receptor 2							15	18	17					1																	166890544		2187	4271	6458	SO:0001583	missense	387597					integral to membrane		g.chr1:166890544G>C	AF503509	CCDS1256.1	1q24.1	2008-12-18	2008-12-18	2008-12-18	ENSG00000143195	ENSG00000143195			18131	protein-coding gene	gene with protein product	"LISCH-like"		"chromosome 1 open reading frame 32"	C1orf32			Standard	NM_199351		Approved		uc001gdx.2	Q71H61	OTTHUMG00000034320	ENST00000271417.3:c.1284C>G	1.37:g.166890544G>C	ENSP00000271417:p.Asp428Glu					ILDR2_ENST00000525740.1_Missense_Mutation_p.D301E|ILDR2_ENST00000526687.1_Missense_Mutation_p.D320E|ILDR2_ENST00000469934.2_Intron|ILDR2_ENST00000529387.1_Intron|ILDR2_ENST00000528703.1_Missense_Mutation_p.D369E|ILDR2_ENST00000529071.1_Missense_Mutation_p.D409E	p.D428E	NM_199351.2	NP_955383.1	Q71H61	ILDR2_HUMAN			9	1339	-			428						Missense_Mutation	SNP	ENST00000271417.3	37	c.1284C>G	CCDS1256.1	.	.	.	.	.	.	.	.	.	.	G	15.49	2.850155	0.51270	.	.	ENSG00000143195	ENST00000271417;ENST00000525740;ENST00000529071;ENST00000526687;ENST00000528703	T;D;T;D;T	0.84730	0.1;-1.89;0.03;-1.88;-0.82	4.37	-0.477	0.12097	.	0.112612	0.64402	D	0.000017	T	0.66386	0.2784	M	0.64997	1.995	0.34697	D	0.726355	B	0.31077	0.307	B	0.32864	0.154	T	0.53187	-0.8474	10	0.21014	T	0.42	.	7.5721	0.27913	0.3437:0.1217:0.5346:0.0	.	428	Q71H61	ILDR2_HUMAN	E	428;301;409;320;369	ENSP00000271417:D428E;ENSP00000436120:D301E;ENSP00000436882:D409E;ENSP00000434273:D320E;ENSP00000432750:D369E	ENSP00000271417:D428E	D	-	3	2	ILDR2	165157168	0.966000	0.33281	0.999000	0.59377	0.492000	0.33523	-0.072000	0.11486	-0.000000	0.14550	-0.252000	0.11476	GAC		0.711	ILDR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000082880.2	NM_199351		5	10	0	0	0	1	0	5	10					C	166890544	G	C	166890544	3	2	414	1	0	0	0	0	1	0	0	0	7710	1136	40	5	643	5	ILDR2	1	166890544	Missense_Mutation	SNP	G	TCGA-VP-A87B-01A-11D-A34U-08	52447965	166890544	82360077	7	20067											
F5	2153	broad.mit.edu	37	chr1	169541549	169541549	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgaacttttatgatgtctcCgacttcagcatataaagtag	12	14	8	7	1	2	2	1	2	1	0	3	3	2	2	1	0	2	2	1	0	6	6	rs376110672		TCGA-VP-A87B-01A-11D-A34U-08	TCGA-VP-A87B-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba2e9eb3-d530-49c4-ae78-d3069862fc71	4d2a435f-5ae8-4a20-be13-cf9208534cd2	g.chr1:169541549C>G	ENST00000367797.3	-	3	484	c.283G>C	c.(283-285)Gga>Cga	p.G95R	F5_ENST00000546081.1_5'UTR|F5_ENST00000367796.3_Missense_Mutation_p.G95R	NM_000130.4	NP_000121	P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	95	F5/8 type A 1.|Plastocyanin-like 1.				blood circulation (GO:0008015)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)|vesicle (GO:0031982)	copper ion binding (GO:0005507)			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				ART-123(DB05777)|Drotrecogin alfa(DB00055)	ATGATGTCTCCGACTTCAGCA	0.363																																						ENST00000367796.3																			0				NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128						c.(283-285)Gga>Cga		coagulation factor V (proaccelerin, labile factor)	Drotrecogin alfa(DB00055)						67	69	69					1																	169541549		2203	4300	6503	SO:0001583	missense	2153				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity	g.chr1:169541549C>G	M14335	CCDS1281.1	1q23	2012-10-02			ENSG00000198734	ENSG00000198734			3542	protein-coding gene	gene with protein product		612309					Standard	NM_000130		Approved		uc001ggg.1	P12259	OTTHUMG00000034595	ENST00000367797.3:c.283G>C	1.37:g.169541549C>G	ENSP00000356771:p.Gly95Arg					F5_ENST00000367797.3_Missense_Mutation_p.G95R|F5_ENST00000546081.1_5'UTR	p.G95R			P12259	FA5_HUMAN			3	484	-	all_hematologic(923;0.208)		95			F5/8 type A 1.|Plastocyanin-like 1.		A8K6E8|Q14285|Q2EHR5|Q5R346|Q5R347|Q6UPU6|Q8WWQ6	Missense_Mutation	SNP	ENST00000367797.3	37	c.283G>C	CCDS1281.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.189845	0.78789	.	.	ENSG00000198734	ENST00000367797;ENST00000367796	D;D	0.99548	-6.14;-6.14	5.54	5.54	0.83059	Cupredoxin (2);Multicopper oxidase, type 3 (1);	0.000000	0.85682	D	0.000000	D	0.99715	0.9890	M	0.92507	3.315	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98342	1.0539	10	0.44086	T	0.13	-17.3605	16.9823	0.86332	0.0:1.0:0.0:0.0	.	95	P12259	FA5_HUMAN	R	95	ENSP00000356771:G95R;ENSP00000356770:G95R	ENSP00000356770:G95R	G	-	1	0	F5	167808173	1.000000	0.71417	1.000000	0.80357	0.908000	0.53690	4.812000	0.62613	2.609000	0.88269	0.563000	0.77884	GGA		0.363	F5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000083712.1	NM_000130		5	55	0	0	0	1	0	5	55					G	169541549	C	G	169541549	3	3	414	1	0	0	0	0	1	0	0	0	5348	661	23	5	6483	5	F5	1	169541549	Missense_Mutation	SNP	C	TCGA-VP-A87B-01A-11D-A34U-08	2651005	169541549	79709072	8	20068											
C1orf129	80133	broad.mit.edu	37	chr1	170959063	170959063	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgtatgaaggatgttatgtTgcaggttatcactttgttga	9	18	11	3	0	1	2	1	2	0	0	1	3	1	3	0	2	1	6	0	2	4	7			TCGA-VP-A87B-01A-11D-A34U-08	TCGA-VP-A87B-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba2e9eb3-d530-49c4-ae78-d3069862fc71	4d2a435f-5ae8-4a20-be13-cf9208534cd2	g.chr1:170959063T>C	ENST00000367758.3	+	11	1046	c.947T>C	c.(946-948)tTg>tCg	p.L316S	MROH9_ENST00000367759.4_Missense_Mutation_p.L316S	NM_025063.2	NP_079339.2	Q5TGP6	MROH9_HUMAN	maestro heat-like repeat family member 9	316																	GATGTTATGTTGCAGGTTATC	0.438																																						ENST00000367759.4																			0											c.(946-948)tTg>tCg		maestro heat-like repeat family member 9							169	162	164					1																	170959063		1922	4143	6065	SO:0001583	missense	80133							g.chr1:170959063T>C	AK027203	CCDS41436.1, CCDS53429.1	1q24.3	2012-12-19	2012-12-19	2012-12-19	ENSG00000117501	ENSG00000117501		"maestro heat-like repeat containing"	26287	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 129"	C1orf129			Standard	NM_025063		Approved	FLJ23550, ARMC11	uc010plz.2	Q5TGP6	OTTHUMG00000041456	ENST00000367758.3:c.947T>C	1.37:g.170959063T>C	ENSP00000356732:p.Leu316Ser					MROH9_ENST00000367758.3_Missense_Mutation_p.L316S	p.L316S	NM_001163629.1	NP_001157101.1					11	1101	+								A0PJM0|A0PJM2|F5GWX6|Q9H5D7	Missense_Mutation	SNP	ENST00000367758.3	37	c.947T>C	CCDS41436.1	.	.	.	.	.	.	.	.	.	.	T	15.89	2.967274	0.53507	.	.	ENSG00000117501	ENST00000367759;ENST00000367758	T;T	0.30182	3.63;1.54	5.18	5.18	0.71444	Armadillo-like helical (1);	0.135801	0.32287	N	0.006316	T	0.41328	0.1154	M	0.69823	2.125	0.09310	N	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.38156	-0.9674	10	0.87932	D	0	-10.6885	11.419	0.49969	0.0:0.0:0.0:1.0	.	316;316	F5GWX6;Q5TGP6	.;CA129_HUMAN	S	316	ENSP00000356733:L316S;ENSP00000356732:L316S	ENSP00000356732:L316S	L	+	2	0	C1orf129	169225687	0.053000	0.20554	0.004000	0.12327	0.016000	0.09150	3.636000	0.54317	1.945000	0.56424	0.383000	0.25322	TTG		0.438	MROH9-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000099327.1	NM_025063		41	49	0	0	0	1	0	41	49					C	170959063	T	C	170959063	3	2	414	1	0	0	0	0	1	0	0	0	1996	1821	63	4	985	4	C1orf129	1	170959063	Missense_Mutation	SNP	T	TCGA-VP-A87B-01A-11D-A34U-08	1417514	170959063	78291558	9	20069											
USH2A	7399	broad.mit.edu	37	chr1	216166392	216166392	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcaggctcagtccaggagaCattaaaggagtcaggtgaat	13	9	12	7	0	3	2	3	1	0	1	4	4	4	3	1	4	0	1	1	4	3	2			TCGA-VP-A87B-01A-11D-A34U-08	TCGA-VP-A87B-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba2e9eb3-d530-49c4-ae78-d3069862fc71	4d2a435f-5ae8-4a20-be13-cf9208534cd2	g.chr1:216166392C>T	ENST00000307340.3	-	35	7161	c.6775G>A	c.(6775-6777)Gtc>Atc	p.V2259I	USH2A_ENST00000366943.2_Missense_Mutation_p.V2259I	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	2259	Fibronectin type-III 9. {ECO:0000255|PROSITE-ProRule:PRU00316}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)	p.V2259I(1)		NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		GTCCAGGAGACATTAAAGGAG	0.463										HNSCC(13;0.011)	OREG0014251	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000366943.2																			1	Substitution - Missense(1)	p.V2259I(1)	endometrium(1)	NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527						c.(6775-6777)Gtc>Atc		Usher syndrome 2A (autosomal recessive, mild)							243	246	245					1																	216166392		2203	4300	6503	SO:0001583	missense	7399				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	g.chr1:216166392C>T	AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"Fibronectin type III domain containing"	12601	protein-coding gene	gene with protein product	"usherin"	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.6775G>A	1.37:g.216166392C>T	ENSP00000305941:p.Val2259Ile	HNSCC(13;0.011)	OREG0014251	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	2234	USH2A_ENST00000307340.3_Missense_Mutation_p.V2259I	p.V2259I			O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	35	7161	-			2259			Fibronectin type-III 9.		Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	c.6775G>A	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	C	4.357	0.065715	0.08388	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	T;T	0.56275	0.47;0.47	6.17	0.0794	0.14416	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.152277	0.29684	N	0.011469	T	0.27027	0.0662	N	0.05441	-0.05	0.24107	N	0.995853	B	0.02656	0.0	B	0.04013	0.001	T	0.17379	-1.0371	10	0.18276	T	0.48	.	10.8535	0.46784	0.0:0.4416:0.0:0.5584	.	2259	O75445	USH2A_HUMAN	I	2259	ENSP00000305941:V2259I;ENSP00000355910:V2259I	ENSP00000305941:V2259I	V	-	1	0	USH2A	214233015	1.000000	0.71417	0.335000	0.25508	0.998000	0.95712	0.631000	0.24568	-0.210000	0.10140	0.655000	0.94253	GTC		0.463	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		107	181	0	0	0	1	0	107	181					T	216166392	C	T	216166392	3	4	414	1	0	0	0	0	1	0	0	0	17033	478	17	3	8985	3	USH2A	1	216166392	Missense_Mutation	SNP	C	TCGA-VP-A87B-01A-11D-A34U-08	45207329	216166392	33084229	10	20070											
SGOL1	151648	broad.mit.edu	37	chr3	20215978	20215978	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtcattgctcactttttgtcGgaaaggagtaagatgaacac	12	12	10	7	1	2	2	2	1	0	1	3	4	2	4	0	2	2	2	0	2	3	4			TCGA-VP-A87B-01A-11D-A34U-08	TCGA-VP-A87B-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba2e9eb3-d530-49c4-ae78-d3069862fc71	4d2a435f-5ae8-4a20-be13-cf9208534cd2	g.chr3:20215978G>A	ENST00000263753.4	-	6	1184	c.1045C>T	c.(1045-1047)Cga>Tga	p.R349*	SGOL1_ENST00000429446.3_Intron|SGOL1_ENST00000425061.1_Intron|SGOL1_ENST00000417364.1_Intron|SGOL1_ENST00000383774.1_Intron|SGOL1_ENST00000421451.1_Nonsense_Mutation_p.R349*|SGOL1_ENST00000452020.1_Intron|SGOL1_ENST00000442720.1_Intron|SGOL1_ENST00000412997.1_Nonsense_Mutation_p.R349*|SGOL1_ENST00000437051.1_Intron|SGOL1-AS1_ENST00000441442.1_RNA|SGOL1_ENST00000412868.1_Nonsense_Mutation_p.R349*|SGOL1_ENST00000306698.2_Intron|SGOL1_ENST00000443724.1_Intron|SGOL1-AS1_ENST00000448208.1_RNA|SGOL1_ENST00000419233.2_Intron	NM_001012410.3|NM_001199252.1	NP_001012410.1|NP_001186181.1	Q5FBB7	SGOL1_HUMAN	shugoshin-like 1 (S. pombe)	349					attachment of spindle microtubules to kinetochore (GO:0008608)|centriole-centriole cohesion (GO:0010457)|chromosome segregation (GO:0007059)|meiotic chromosome segregation (GO:0045132)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	centrosome (GO:0005813)|chromosome, centromeric region (GO:0000775)|condensed chromosome, centromeric region (GO:0000779)|condensed nuclear chromosome, centromeric region (GO:0000780)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|mitotic cohesin complex (GO:0030892)|nucleus (GO:0005634)|spindle pole (GO:0000922)	kinase binding (GO:0019900)			kidney(1)|large_intestine(4)|lung(6)|skin(1)|urinary_tract(2)	14						ACTTTTTGTCGGAAAGGAGTA	0.373																																						ENST00000412997.1																			0				kidney(1)|large_intestine(4)|lung(6)|skin(1)|urinary_tract(2)	14						c.(1045-1047)Cga>Tga		shugoshin-like 1 (S. pombe)							125	112	116					3																	20215978		2203	4300	6503	SO:0001587	stop_gained	151648				attachment of spindle microtubules to kinetochore|cell division|centriole-centriole cohesion|meiotic chromosome segregation|mitotic prometaphase	centrosome|condensed chromosome kinetochore|cytosol|mitotic cohesin complex|spindle pole	protein binding	g.chr3:20215978G>A	BC001339	CCDS2635.1, CCDS33716.1, CCDS46771.1, CCDS46772.1, CCDS46773.1, CCDS46774.1, CCDS56243.1	3p24.3	2005-07-27			ENSG00000129810	ENSG00000129810			25088	protein-coding gene	gene with protein product		609168				12747765	Standard	NM_001199251		Approved	NY-BR-85	uc003cbu.3	Q5FBB7	OTTHUMG00000130479	ENST00000263753.4:c.1045C>T	3.37:g.20215978G>A	ENSP00000263753:p.Arg349*					SGOL1_ENST00000443724.1_Intron|SGOL1_ENST00000263753.4_Nonsense_Mutation_p.R349*|SGOL1-AS1_ENST00000448208.1_RNA|SGOL1_ENST00000429446.3_Intron|SGOL1_ENST00000452020.1_Intron|SGOL1_ENST00000437051.1_Intron|SGOL1_ENST00000417364.1_Intron|SGOL1_ENST00000383774.1_Intron|SGOL1_ENST00000425061.1_Intron|SGOL1-AS1_ENST00000441442.1_RNA|SGOL1_ENST00000421451.1_Nonsense_Mutation_p.R349*|SGOL1_ENST00000419233.2_Intron|SGOL1_ENST00000306698.2_Intron|SGOL1_ENST00000412868.1_Nonsense_Mutation_p.R349*|SGOL1_ENST00000442720.1_Intron	p.R349*	NM_001199251.1	NP_001186180.1	Q5FBB7	SGOL1_HUMAN			6	1396	-			349					Q588H5|Q5FBB4|Q5FBB5|Q5FBB6|Q5FBB8|Q8N579|Q8WVL0|Q9BVA8|Q9H275	Nonsense_Mutation	SNP	ENST00000263753.4	37	c.1045C>T	CCDS33716.1	.	.	.	.	.	.	.	.	.	.	G	37	6.285850	0.97444	.	.	ENSG00000129810	ENST00000263753;ENST00000421451;ENST00000412997;ENST00000412868	.	.	.	5.76	4.89	0.63831	.	0.305062	0.32671	N	0.005793	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.0647	0.59025	0.0743:0.0:0.9257:0.0	.	.	.	.	X	349	.	ENSP00000263753:R349X	R	-	1	2	SGOL1	20190982	1.000000	0.71417	1.000000	0.80357	0.801000	0.45260	3.944000	0.56629	1.446000	0.47643	0.561000	0.74099	CGA		0.373	SGOL1-009	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000340498.1	NM_138484		4	134	0	0	0	1	0	4	134					A	20215978	G	A	20215978	4	1	414	1	0	0	0	0	0	1	0	0	14216	1124	39	2	676	2	SGOL1	3	20215978	Nonsense_Mutation	SNP	G	TCGA-VP-A87B-01A-11D-A34U-08		20215978	177806452	11	20071											
DLEC1	9940	broad.mit.edu	37	chr3	38158019	38158019	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ggagctgctggtgttttatgGgccacctttcccgctgcggg	3	12	15	11	2	0	0	0	0	0	0	1	1	1	1	3	4	3	4	3	4	1	3			TCGA-VP-A87B-01A-11D-A34U-08	TCGA-VP-A87B-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba2e9eb3-d530-49c4-ae78-d3069862fc71	4d2a435f-5ae8-4a20-be13-cf9208534cd2	g.chr3:38158019G>C	ENST00000308059.6	+	28	3953	c.3932G>C	c.(3931-3933)gGg>gCg	p.G1311A	DLEC1_ENST00000346219.3_Missense_Mutation_p.G1311A|DLEC1_ENST00000452631.2_Missense_Mutation_p.G1314A					deleted in lung and esophageal cancer 1											NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(3)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	51				KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)		GTGTTTTATGGGCCACCTTTC	0.612																																						ENST00000308059.6																			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(3)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	51						c.(3931-3933)gGg>gCg		deleted in lung and esophageal cancer 1							47	51	50					3																	38158019		1998	4160	6158	SO:0001583	missense	9940				negative regulation of cell proliferation	cytoplasm		g.chr3:38158019G>C	AB020522	CCDS2672.2	3p21.3	2014-07-31			ENSG00000008226	ENSG00000008226			2899	protein-coding gene	gene with protein product	"cilia and flagella associated protein 81"	604050				10213508	Standard	XM_005265630		Approved	DLC1, CFAP81	uc003chp.1	Q9Y238	OTTHUMG00000131085	ENST00000308059.6:c.3932G>C	3.37:g.38158019G>C	ENSP00000308597:p.Gly1311Ala					DLEC1_ENST00000452631.2_Missense_Mutation_p.G1314A|DLEC1_ENST00000346219.3_Missense_Mutation_p.G1311A	p.G1311A			Q9Y238	DLEC1_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)	28	3953	+			1311						Missense_Mutation	SNP	ENST00000308059.6	37	c.3932G>C	CCDS2672.2	.	.	.	.	.	.	.	.	.	.	G	19.57	3.852242	0.71719	.	.	ENSG00000008226	ENST00000308059;ENST00000346219;ENST00000452631	T;T;T	0.11385	2.82;2.78;3.05	5.08	5.08	0.68730	.	0.219002	0.37761	N	0.001958	T	0.35480	0.0933	M	0.77103	2.36	0.58432	D	0.99999	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.83275	0.994;0.996;0.996;0.994	T	0.08371	-1.0725	10	0.49607	T	0.09	-30.8823	17.234	0.86992	0.0:0.0:1.0:0.0	.	1314;1311;1311;1311	F8W6T4;B7ZW06;Q9Y238-3;Q9Y238	.;.;.;DLEC1_HUMAN	A	1311;1311;1314	ENSP00000308597:G1311A;ENSP00000315914:G1311A;ENSP00000410427:G1314A	ENSP00000308597:G1311A	G	+	2	0	DLEC1	38133023	1.000000	0.71417	0.947000	0.38551	0.496000	0.33645	7.649000	0.83500	2.357000	0.79964	0.462000	0.41574	GGG		0.612	DLEC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253745.3	NM_007337		31	27	0	0	0	1	0	31	27					C	38158019	G	C	38158019	3	2	414	1	0	0	0	0	1	0	0	0	4552	1232	43	5	4042	5	DLEC1	3	38158019	Missense_Mutation	SNP	G	TCGA-VP-A87B-01A-11D-A34U-08	17942041	38158019	159864411	12	20072											
EHHADH	1962	broad.mit.edu	37	chr3	184910382	184910382	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgatgggtttttctataccGtgataggaatttggaaagcc	10	14	12	5	1	1	2	0	2	1	0	1	4	1	4	2	3	2	1	2	3	5	6	rs148208284	byFrequency	TCGA-VP-A87B-01A-11D-A34U-08	TCGA-VP-A87B-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba2e9eb3-d530-49c4-ae78-d3069862fc71	4d2a435f-5ae8-4a20-be13-cf9208534cd2	g.chr3:184910382G>A	ENST00000231887.3	-	7	1879	c.1804C>T	c.(1804-1806)Cgg>Tgg	p.R602W	EHHADH-AS1_ENST00000417720.1_RNA|EHHADH_ENST00000456310.1_Missense_Mutation_p.R506W	NM_001166415.1|NM_001966.3	NP_001159887.1|NP_001957.2	Q08426	ECHP_HUMAN	enoyl-CoA, hydratase/3-hydroxyacyl CoA dehydrogenase	602					fatty acid beta-oxidation (GO:0006635)|internal protein amino acid acetylation (GO:0006475)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|peroxisome (GO:0005777)	3-hydroxyacyl-CoA dehydrogenase activity (GO:0003857)|coenzyme binding (GO:0050662)|dodecenoyl-CoA delta-isomerase activity (GO:0004165)|enoyl-CoA hydratase activity (GO:0004300)|enzyme binding (GO:0019899)|receptor binding (GO:0005102)			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|prostate(2)|skin(3)	24	all_cancers(143;4.04e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		Epithelial(37;1.98e-32)|OV - Ovarian serous cystadenocarcinoma(80;5.55e-21)			TTTCTATACCGTGATAGGAAT	0.428													G|||	2	0.000399361	0.0015	0	5008	,	,		21609	0		0	False		,,,				2504	0					ENST00000231887.3																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|prostate(2)|skin(3)	24						c.(1804-1806)Cgg>Tgg		enoyl-CoA, hydratase/3-hydroxyacyl CoA dehydrogenase	NADH(DB00157)	G	TRP/ARG,TRP/ARG	10,4396	16.8+/-37.8	0,10,2193	105	97	100		1516,1804	-1.2	0.1	3	dbSNP_134	100	0,8600		0,0,4300	yes	missense,missense	EHHADH	NM_001166415.1,NM_001966.3	101,101	0,10,6493	AA,AG,GG		0.0,0.227,0.0769	possibly-damaging,possibly-damaging	506/628,602/724	184910382	10,12996	2203	4300	6503	SO:0001583	missense	1962					peroxisome	3-hydroxyacyl-CoA dehydrogenase activity|coenzyme binding|dodecenoyl-CoA delta-isomerase activity|enoyl-CoA hydratase activity	g.chr3:184910382G>A	L07077	CCDS33901.1, CCDS54694.1	3q26.3-q28	2012-07-13	2010-04-30		ENSG00000113790	ENSG00000113790	4.2.1.17, 1.1.1.35, 5.3.3.8		3247	protein-coding gene	gene with protein product		607037	"enoyl-Coenzyme A, hydratase/3-hydroxyacyl Coenzyme A dehydrogenase"	ECHD		8188243	Standard	NM_001966		Approved		uc003fpf.3	Q08426	OTTHUMG00000156698	ENST00000231887.3:c.1804C>T	3.37:g.184910382G>A	ENSP00000231887:p.Arg602Trp					EHHADH_ENST00000456310.1_Missense_Mutation_p.R506W	p.R602W	NM_001166415.1|NM_001966.3	NP_001159887.1|NP_001957.2	Q08426	ECHP_HUMAN	Epithelial(37;1.98e-32)|OV - Ovarian serous cystadenocarcinoma(80;5.55e-21)		7	1879	-	all_cancers(143;4.04e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		602					A8K6Y3|B4DWG3|D3DNU0|Q58EZ5	Missense_Mutation	SNP	ENST00000231887.3	37	c.1804C>T	CCDS33901.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	10.47	1.358739	0.24598	0.00227	0.0	ENSG00000113790	ENST00000231887;ENST00000456310	T;T	0.76060	-0.58;-0.99	5.91	-1.18	0.09617	.	1.080000	0.07005	N	0.824029	T	0.60366	0.2263	N	0.08118	0	0.20307	N	0.999916	P	0.36086	0.536	B	0.36030	0.216	T	0.54159	-0.8335	10	0.66056	D	0.02	-0.5861	18.2045	0.89850	0.0:0.6567:0.2642:0.0792	.	602	Q08426	ECHP_HUMAN	W	602;506	ENSP00000231887:R602W;ENSP00000387746:R506W	ENSP00000231887:R602W	R	-	1	2	EHHADH	186393076	0.489000	0.26004	0.069000	0.20011	0.438000	0.31896	0.563000	0.23547	-0.173000	0.10761	0.655000	0.94253	CGG		0.428	EHHADH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345326.1			48	79	0	0	0	1	0	48	79					A	184910382	G	A	184910382	3	1	414	1	0	0	0	0	1	0	0	0	4982	1144	40	1	371	1	EHHADH	3	184910382	Missense_Mutation	SNP	G	TCGA-VP-A87B-01A-11D-A34U-08	146752363	184910382	13112048	13	20073											
SH3RF1	57630	broad.mit.edu	37	chr4	170037774	170037774	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtggggcgttcctggttgtgCgctgcaactagtagatggga	6	11	17	7	2	0	1	0	0	0	1	1	2	1	2	1	4	3	5	1	4	3	4	rs528361329		TCGA-VP-A87B-01A-11D-A34U-08	TCGA-VP-A87B-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba2e9eb3-d530-49c4-ae78-d3069862fc71	4d2a435f-5ae8-4a20-be13-cf9208534cd2	g.chr4:170037774C>T	ENST00000284637.9	-	10	2126	c.1785G>A	c.(1783-1785)gcG>gcA	p.A595A	SH3RF1_ENST00000508685.1_5'UTR	NM_020870.3	NP_065921.2	Q7Z6J0	SH3R1_HUMAN	SH3 domain containing ring finger 1	595					negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|protein ubiquitination (GO:0016567)|regulation of JNK cascade (GO:0046328)	cell projection (GO:0042995)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(10)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	31		Prostate(90;0.00267)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0287)		CCTGGTTGTGCGCTGCAACTA	0.537													C|||	1	0.000199681	8e-04	0	5008	,	,		22270	0		0	False		,,,				2504	0					ENST00000284637.9																			0				NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(10)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	31						c.(1783-1785)gcG>gcA		SH3 domain containing ring finger 1							44	50	48					4																	170037774		2200	4296	6496	SO:0001819	synonymous_variant	57630					Golgi apparatus|lamellipodium|perinuclear region of cytoplasm	ligase activity|zinc ion binding	g.chr4:170037774C>T	BC033203	CCDS34099.1	4q32.3	2013-01-09	2006-02-13	2006-02-13	ENSG00000154447	ENSG00000154447		"RING-type (C3HC4) zinc fingers"	17650	protein-coding gene	gene with protein product	"plenty of SH3 domains"		"SH3 multiple domains 2"	SH3MD2		9482736	Standard	NM_020870		Approved	POSH, RNF142, KIAA1494	uc003isa.1	Q7Z6J0	OTTHUMG00000161010	ENST00000284637.9:c.1785G>A	4.37:g.170037774C>T						SH3RF1_ENST00000508685.1_5'UTR	p.A595A	NM_020870.3	NP_065921.2	Q7Z6J0	SH3R1_HUMAN		GBM - Glioblastoma multiforme(119;0.0287)	10	2126	-		Prostate(90;0.00267)|Renal(120;0.0183)	595					Q05BT2|Q8IW46|Q9HAM2|Q9P234	Silent	SNP	ENST00000284637.9	37	c.1785G>A	CCDS34099.1																																																																																				0.537	SH3RF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363382.3	NM_020870		3	54	0	0	0	1	0	3	54					T	170037774	C	T	170037774	2	4	414	1	0	0	0	0	0	0	0	1	14258	755	27	1		1	SH3RF1	4	170037774	Silent	SNP	C	TCGA-VP-A87B-01A-11D-A34U-08		170037774	21116502	14	20074											
PCDHGA8	9708	broad.mit.edu	37	chr5	140772579	140772579	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgaagcacggagtccgtatcGtctccagaggtaggacgcag	10	6	14	11	5	1	1	0	0	1	1	4	4	2	3	2	3	1	4	2	3	3	2	rs368785983		TCGA-VP-A87B-01A-11D-A34U-08	TCGA-VP-A87B-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba2e9eb3-d530-49c4-ae78-d3069862fc71	4d2a435f-5ae8-4a20-be13-cf9208534cd2	g.chr5:140772579G>T	ENST00000398604.2	+	1	199	c.199G>T	c.(199-201)Gtc>Ttc	p.V67F	PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA6_ENST00000517434.1_Intron	NM_032088.1	NP_114477.1	Q9Y5G5	PCDG8_HUMAN	protocadherin gamma subfamily A, 8	67	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.V67I(1)		endometrium(6)|kidney(6)|large_intestine(6)|lung(30)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	51			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGTCCGTATCGTCTCCAGAGG	0.622																																						ENST00000398604.2																			1	Substitution - Missense(1)	p.V67I(1)	endometrium(1)	endometrium(6)|kidney(6)|large_intestine(6)|lung(30)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	51						c.(199-201)Gtc>Ttc									44	54	50					5																	140772579		2195	4299	6494	SO:0001583	missense	0							g.chr5:140772579G>T	AF152515	CCDS47291.1, CCDS75338.1	5q31	2010-01-26			ENSG00000253767	ENSG00000253767		"Cadherins / Protocadherins : Clustered"	8706	other	protocadherin		606295				10380929	Standard	NM_014004		Approved	KIAA0327, PCDH-GAMMA-A8		Q9Y5G5	OTTHUMG00000164053	ENST00000398604.2:c.199G>T	5.37:g.140772579G>T	ENSP00000381605:p.Val67Phe					PCDHGA7_ENST00000518325.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA6_ENST00000517434.1_Intron	p.V67F	NM_032088.1	NP_114477.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	199	+								A7MCZ4|O15039	Missense_Mutation	SNP	ENST00000398604.2	37	c.199G>T	CCDS47291.1	.	.	.	.	.	.	.	.	.	.	.	16.42	3.118332	0.56505	.	.	ENSG00000253767	ENST00000398604	T	0.33216	1.42	5.26	4.35	0.52113	Cadherin, N-terminal (1);Cadherin (3);Cadherin-like (1);	0.000000	0.28635	U	0.014656	T	0.65176	0.2666	H	0.94183	3.505	0.29697	N	0.840459	D;D	0.71674	0.998;0.994	D;D	0.76575	0.988;0.953	T	0.69339	-0.5171	10	0.49607	T	0.09	.	14.8602	0.70376	0.0:0.0:0.8557:0.1443	.	67;67	Q9Y5G5;Q9Y5G5-2	PCDG8_HUMAN;.	F	67	ENSP00000381605:V67F	ENSP00000381605:V67F	V	+	1	0	PCDHGA8	140752763	0.967000	0.33354	1.000000	0.80357	0.976000	0.68499	1.505000	0.35736	2.471000	0.83476	0.655000	0.94253	GTC		0.622	PCDHGA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376972.1	NM_032088		40	54	1	0	1.52319e-26	1	1.74474e-26	40	54					T	140772579	G	T	140772579	3	4	414	1	0	0	0	0	1	0	0	0	11560	1145	40	5	201	5	PCDHGA8	5	140772579	Missense_Mutation	SNP	G	TCGA-VP-A87B-01A-11D-A34U-08		140772579	40142681	15	20075											
NSD1	64324	broad.mit.edu	37	chr5	176696757	176696757	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcccttacatggagggtgacGtgagcagcaaggataagatg	12	8	14	7	1	0	3	0	2	0	1	1	5	1	5	1	3	3	2	1	3	3	2			TCGA-VP-A87B-01A-11D-A34U-08	TCGA-VP-A87B-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba2e9eb3-d530-49c4-ae78-d3069862fc71	4d2a435f-5ae8-4a20-be13-cf9208534cd2	g.chr5:176696757G>A	ENST00000439151.2	+	16	5503	c.5458G>A	c.(5458-5460)Gtg>Atg	p.V1820M	NSD1_ENST00000354179.4_Missense_Mutation_p.V1551M|NSD1_ENST00000361032.4_Missense_Mutation_p.V1717M|NSD1_ENST00000347982.4_Missense_Mutation_p.V1551M	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	1820					gastrulation with mouth forming second (GO:0001702)|histone H3-K36 methylation (GO:0010452)|histone H4-K20 methylation (GO:0034770)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|estrogen receptor binding (GO:0030331)|histone methyltransferase activity (H3-K36 specific) (GO:0046975)|histone methyltransferase activity (H4-K20 specific) (GO:0042799)|retinoic acid receptor binding (GO:0042974)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription cofactor activity (GO:0003712)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		GGAGGGTGACGTGAGCAGCAA	0.453			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)																												ENST00000439151.2				Dom	yes		5	5q35	64324	T	nuclear receptor binding SET domain protein 1	yes	Sotos Syndrome	L	NUP98		AML		0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96						c.(5458-5460)Gtg>Atg		nuclear receptor binding SET domain protein 1							120	112	115					5																	176696757		2203	4300	6503	SO:0001583	missense	64324	Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	Familial Cancer Database	Weaver-Smith syndrome;Cerebral Gigantism;BWS, Exomphalos-Macroglossia-Gigantism (EMG) syndrome, Wiedemann-Beckwith syndrome, WBS	negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding	g.chr5:176696757G>A	AK026066	CCDS4412.1, CCDS4413.1	5q35	2014-09-17	2003-03-12		ENSG00000165671	ENSG00000165671		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	14234	protein-coding gene	gene with protein product		606681	"Sotos syndrome"	STO		9628876, 11896389	Standard	NM_022455		Approved	ARA267, FLJ22263, KMT3B	uc003mfr.4	Q96L73	OTTHUMG00000130846	ENST00000439151.2:c.5458G>A	5.37:g.176696757G>A	ENSP00000395929:p.Val1820Met	HNSCC(47;0.14)				NSD1_ENST00000361032.4_Missense_Mutation_p.V1717M|NSD1_ENST00000354179.4_Missense_Mutation_p.V1551M|NSD1_ENST00000347982.4_Missense_Mutation_p.V1551M	p.V1820M	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)	16	5503	+	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	1820					Q96PD8|Q96RN7	Missense_Mutation	SNP	ENST00000439151.2	37	c.5458G>A	CCDS4412.1	.	.	.	.	.	.	.	.	.	.	G	25.8	4.675488	0.88445	.	.	ENSG00000165671	ENST00000354179;ENST00000439151;ENST00000347982;ENST00000361032;ENST00000508029;ENST00000503056;ENST00000515735	T;T;T;T;D;T;T	0.89123	-0.5;-0.5;-0.5;-0.5;-2.47;-0.5;1.52	5.38	5.38	0.77491	PWWP (1);	0.000000	0.53938	D	0.000054	D	0.90786	0.7107	N	0.22421	0.69	0.37258	D	0.90686	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.73380	0.977;0.965;0.98	D	0.92320	0.5865	10	0.51188	T	0.08	.	19.4967	0.95075	0.0:0.0:1.0:0.0	.	1551;1717;1820	Q96L73-2;Q96L73-3;Q96L73	.;.;NSD1_HUMAN	M	1551;1820;1551;1717;34;34;34	ENSP00000346111:V1551M;ENSP00000395929:V1820M;ENSP00000343209:V1551M;ENSP00000354310:V1717M;ENSP00000425120:V34M;ENSP00000424024:V34M;ENSP00000423048:V34M	ENSP00000343209:V1551M	V	+	1	0	NSD1	176629363	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	6.660000	0.74417	2.678000	0.91216	0.585000	0.79938	GTG		0.453	NSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253412.2	NM_172349		29	45	0	0	0	1	0	29	45					A	176696757	G	A	176696757	3	1	414	1	0	0	0	0	1	0	0	0	10669	1145	40	1	5516	1	NSD1	5	176696757	Missense_Mutation	SNP	G	TCGA-VP-A87B-01A-11D-A34U-08	35924178	176696757	4218503	16	20076											
SCAND3	114821	broad.mit.edu	37	chr6	28554185	28554185	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agactggagctcctcaggcaGgatggtcaggaactgctcca	10	7	13	11	0	2	1	2	0	0	1	4	4	4	4	2	5	3	3	2	5	1	0			TCGA-VP-A87B-01A-11D-A34U-08	TCGA-VP-A87B-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba2e9eb3-d530-49c4-ae78-d3069862fc71	4d2a435f-5ae8-4a20-be13-cf9208534cd2	g.chr6:28554185G>A	ENST00000452236.2	-	1	927	c.310C>T	c.(310-312)Ctg>Ttg	p.L104L	RP5-1186N24.3_ENST00000499525.1_RNA|SCAND3_ENST00000530247.1_Intron	NM_052923.1	NP_443155.1														NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						TCCTCAGGCAGGATGGTCAGG	0.537																																						ENST00000452236.2																			0				NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						c.(310-312)Ctg>Ttg		SCAN domain containing 3							113	115	114					6																	28554185		2203	4300	6503	SO:0001819	synonymous_variant	114821				DNA integration|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity	g.chr6:28554185G>A																												ENST00000452236.2:c.310C>T	6.37:g.28554185G>A						SCAND3_ENST00000530247.1_Intron	p.L104L	NM_052923.1	NP_443155.1	Q6R2W3	SCND3_HUMAN			1	927	-			104			SCAN box.			Silent	SNP	ENST00000452236.2	37	c.310C>T	CCDS34355.1																																																																																				0.537	SCAND3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000043551.3			5	132	0	0	0	1	0	5	132					A	28554185	G	A	28554185	2	1	414	1	0	0	0	0	0	0	0	1	13876	991	35	3		3	SCAND3	6	28554185	Silent	SNP	G	TCGA-VP-A87B-01A-11D-A34U-08		28554185	142560882	17	20077											
GPSM3	63940	broad.mit.edu	37	chr6	32160026	32160026	+	Splice_Site	DEL	C	C	-																															cttcctcatcctgaggggggCcctgatgccaaaatatgtcc																										TCGA-VP-A87B-01A-11D-A34U-08	TCGA-VP-A87B-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba2e9eb3-d530-49c4-ae78-d3069862fc71	4d2a435f-5ae8-4a20-be13-cf9208534cd2	g.chr6:32160026delC	ENST00000375040.3	-	2	436	c.44delG	c.(43-45)ggc>gc	p.G15fs	PBX2_ENST00000375050.4_5'Flank|GPSM3_ENST00000487761.1_Frame_Shift_Del_p.G12fs|GPSM3_ENST00000375043.3_Splice_Site_p.G15fs	NM_001276501.1	NP_001263430.1	Q9Y4H4	GPSM3_HUMAN	G-protein signaling modulator 3	15					regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	cytoplasm (GO:0005737)	GDP-dissociation inhibitor activity (GO:0005092)			large_intestine(1)	1						CTGAGGGGGGCCCTGATGCCA	0.617																																						ENST00000487761.1																			0				large_intestine(1)	1						c.(34-36)gcfs		G-protein signaling modulator 3							26	29	28					6																	32160026		2202	4300	6502	SO:0001630	splice_region_variant	63940				signal transduction	cytoplasm	GTPase activator activity|protein binding	g.chr6:32160026delC	AF155657	CCDS34419.1	6p21.3	2010-06-24	2010-06-24	2004-02-04	ENSG00000213654	ENSG00000213654			13945	protein-coding gene	gene with protein product	"activator of G-protein signaling 4"		"chromosome 6 open reading frame 9", "G-protein signalling modulator 3 (AGS3-like, C. elegans)"	C6orf9		2259622, 15096500	Standard	NM_022107		Approved	NG1, G18, G18.1a, G18.1b, G18.2, AGS4	uc003oaz.3	Q9Y4H4	OTTHUMG00000031244	ENST00000375040.3:c.43-1G>-	6.37:g.32160026delC						GPSM3_ENST00000375040.3_Splice_Site_p.G15_splice|GPSM3_ENST00000375043.3_Splice_Site_p.G15_splice	p.G12fs			Q9Y4H4	GPSM3_HUMAN			2	420	-			15					A2BFJ3	Frame_Shift_Del	DEL	ENST00000375040.3	37	c.35delG	CCDS34419.1																																																																																				0.617	GPSM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076509.1	NM_022107	Frame_Shift_Del	10	15						10	15	---	---	---	---	-	32160026	C	-	32160026	8	5	414	1	0	1	0	1	0	0	1	0	6736	753	26	0	450	0	GPSM3	6	32160026	Splice_Site	DEL	C	TCGA-VP-A87B-01A-11D-A34U-08	3605841	32160026	138955041	18	20078											
CUL9	23113	broad.mit.edu	37	chr6	43171608	43171608	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccagactgaacagggttttgCgccacgagcagaattttgct	10	10	11	10	2	0	3	0	1	0	2	0	4	0	3	2	1	4	3	2	1	2	4			TCGA-VP-A87B-01A-11D-A34U-08	TCGA-VP-A87B-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba2e9eb3-d530-49c4-ae78-d3069862fc71	4d2a435f-5ae8-4a20-be13-cf9208534cd2	g.chr6:43171608C>T	ENST00000252050.4	+	20	4126	c.4042C>T	c.(4042-4044)Cgc>Tgc	p.R1348C	CUL9_ENST00000354495.3_Missense_Mutation_p.R1238C|CUL9_ENST00000372647.2_Missense_Mutation_p.R1348C	NM_015089.2	NP_055904.1	Q8IWT3	CUL9_HUMAN	cullin 9	1348					microtubule cytoskeleton organization (GO:0000226)|protein ubiquitination (GO:0016567)|regulation of mitosis (GO:0007088)|ubiquitin-dependent protein catabolic process (GO:0006511)	cullin-RING ubiquitin ligase complex (GO:0031461)|cytoplasm (GO:0005737)	ATP binding (GO:0005524)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						CAGGGTTTTGCGCCACGAGCA	0.582																																						ENST00000252050.4																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						c.(4042-4044)Cgc>Tgc		cullin 9							168	160	163					6																	43171608		2203	4300	6503	SO:0001583	missense	23113				ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex|cytoplasm	ATP binding|ubiquitin protein ligase binding|zinc ion binding	g.chr6:43171608C>T	AB014608	CCDS4890.1	6p21.1	2011-05-24			ENSG00000112659	ENSG00000112659			15982	protein-coding gene	gene with protein product	"parkin-like cytoplasmic p53 binding protein", "p53-associated parkin-like cytoplasmic protein"	607489				17332328, 10521492, 12526791	Standard	NM_015089		Approved	H7AP1, KIAA0708, PARC	uc003ouk.3	Q8IWT3	OTTHUMG00000014723	ENST00000252050.4:c.4042C>T	6.37:g.43171608C>T	ENSP00000252050:p.Arg1348Cys					CUL9_ENST00000354495.3_Missense_Mutation_p.R1238C|CUL9_ENST00000372647.2_Missense_Mutation_p.R1348C	p.R1348C	NM_015089.2	NP_055904.1	Q8IWT3	CUL9_HUMAN			20	4126	+			1348					O75188|Q5TCY3|Q68CP2|Q68D92|Q8N3W9|Q9BU56	Missense_Mutation	SNP	ENST00000252050.4	37	c.4042C>T	CCDS4890.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.076813	0.76415	.	.	ENSG00000112659	ENST00000252050;ENST00000354495;ENST00000372647	T;T;T	0.75477	-0.94;-0.94;-0.82	5.37	4.44	0.53790	.	0.534882	0.21714	N	0.070239	T	0.77198	0.4095	L	0.52573	1.65	0.48341	D	0.999639	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.77557	0.983;0.99;0.99	T	0.78828	-0.2050	10	0.87932	D	0	-24.8198	10.945	0.47296	0.1444:0.7162:0.1394:0.0	.	1238;1348;1348	Q8IWT3-3;E9PEZ1;Q8IWT3	.;.;CUL9_HUMAN	C	1348;1238;1348	ENSP00000252050:R1348C;ENSP00000346490:R1238C;ENSP00000361730:R1348C	ENSP00000252050:R1348C	R	+	1	0	CUL9	43279586	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	2.185000	0.42584	2.659000	0.90383	0.655000	0.94253	CGC		0.582	CUL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040582.2	NM_015089		4	242	0	0	0	1	0	4	242					T	43171608	C	T	43171608	3	4	414	1	0	0	0	0	1	0	0	0	4061	768	27	1	4116	1	CUL9	6	43171608	Missense_Mutation	SNP	C	TCGA-VP-A87B-01A-11D-A34U-08	11011582	43171608	127943459	19	20079											
EYS	346007	broad.mit.edu	37	chr6	66204918	66204918	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cagtgtgcattccttttagtCtgcagccaaaaagtaactga	12	12	8	9	0	1	1	0	1	1	0	2	1	2	1	2	0	4	3	2	0	4	4			TCGA-VP-A87B-01A-11D-A34U-08	TCGA-VP-A87B-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba2e9eb3-d530-49c4-ae78-d3069862fc71	4d2a435f-5ae8-4a20-be13-cf9208534cd2	g.chr6:66204918C>T	ENST00000370621.3	-	4	912	c.386G>A	c.(385-387)aGa>aAa	p.R129K	EYS_ENST00000503581.1_Missense_Mutation_p.R129K|EYS_ENST00000370616.2_Missense_Mutation_p.R129K|EYS_ENST00000342421.5_Missense_Mutation_p.R129K|EYS_ENST00000370618.3_Missense_Mutation_p.R129K|EYS_ENST00000393380.2_Missense_Mutation_p.R129K			Q5T1H1	EYS_HUMAN	eyes shut homolog (Drosophila)	129					detection of light stimulus involved in visual perception (GO:0050908)|skeletal muscle tissue regeneration (GO:0043403)	extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						TCCTTTTAGTCTGCAGCCAAA	0.393																																						ENST00000503581.1																			0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						c.(385-387)aGa>aAa		eyes shut homolog (Drosophila)							72	65	67					6																	66204918		2203	4300	6503	SO:0001583	missense	346007				response to stimulus|visual perception	extracellular region	calcium ion binding	g.chr6:66204918C>T		CCDS4967.1, CCDS47445.1, CCDS47446.1	6q12	2014-01-28	2008-10-20	2008-10-20	ENSG00000188107	ENSG00000188107			21555	protein-coding gene	gene with protein product		612424	"chromosome 6 open reading frame 180", "EGF-like-domain, multiple 11", "retinitis pigmentosa 25 (autosomal recessive)", "EGF-like-domain, multiple 10", "chromosome 6 open reading frame 178", "chromosome 6 open reading frame 179"	C6orf180, EGFL11, RP25, EGFL10, C6orf178, C6orf179		18836446, 18976725	Standard	NM_001142800		Approved	dJ1018A4.2, bA166P24.2, SPAM, bA307F22.3, dJ303F19.1, bA74E24.1	uc011dxu.1	Q5T1H1	OTTHUMG00000014971	ENST00000370621.3:c.386G>A	6.37:g.66204918C>T	ENSP00000359655:p.Arg129Lys					EYS_ENST00000342421.5_Missense_Mutation_p.R129K|EYS_ENST00000370618.3_Missense_Mutation_p.R129K|EYS_ENST00000393380.2_Missense_Mutation_p.R129K|EYS_ENST00000370616.2_Missense_Mutation_p.R129K|EYS_ENST00000370621.3_Missense_Mutation_p.R129K	p.R129K	NM_001142800.1	NP_001136272.1	Q5T1H1	EYS_HUMAN			4	923	-			129					A2RUR2|A8MVE7|B7TYK8|B7UUQ3|B7ZBE7|B7ZBE8|B7ZBR3|B9ZVD2|Q5SZM4|Q5T3C8|Q5T669|Q5TEL3|Q5TEL4|Q5VVG4|Q6UY05|Q9H557|Q9NQ15	Missense_Mutation	SNP	ENST00000370621.3	37	c.386G>A		.	.	.	.	.	.	.	.	.	.	C	1.684	-0.505724	0.04261	.	.	ENSG00000188107	ENST00000503581;ENST00000370621;ENST00000370616;ENST00000393380;ENST00000342421;ENST00000370618	T;T;T;D;D;D	0.89270	-1.49;-1.48;-1.48;-2.49;-2.45;-2.45	4.92	2.55	0.30701	.	.	.	.	.	T	0.44540	0.1298	N	0.02539	-0.55	0.09310	N	0.999997	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.0;0.001;0.0	T	0.49513	-0.8932	9	0.02654	T	1	.	7.5679	0.27890	0.0:0.1467:0.0:0.8533	.	129;129;129	Q5T1H1-1;Q5T1H1-2;Q5SZM4	.;.;.	K	129	ENSP00000424243:R129K;ENSP00000359655:R129K;ENSP00000359650:R129K;ENSP00000377042:R129K;ENSP00000341818:R129K;ENSP00000359652:R129K	ENSP00000341818:R129K	R	-	2	0	EYS	66261639	0.905000	0.30787	0.067000	0.19924	0.913000	0.54294	1.423000	0.34837	0.320000	0.23234	-0.229000	0.12294	AGA		0.393	EYS-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000351351.3	XM_294050		12	16	0	0	0	1	0	12	16					T	66204918	C	T	66204918	3	4	414	1	0	0	0	0	1	0	0	0	5332	913	32	3	9170	3	EYS	6	66204918	Missense_Mutation	SNP	C	TCGA-VP-A87B-01A-11D-A34U-08	23033310	66204918	104910149	20	20080											
ZNF292	23036	broad.mit.edu	37	chr6	87968799	87968799	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgttttcctcctttataagtGtcatgccaacaaaaagtaac	13	13	5	10	1	1	0	1	0	0	0	3	0	3	0	3	0	3	2	3	0	6	6			TCGA-VP-A87B-01A-11D-A34U-08	TCGA-VP-A87B-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba2e9eb3-d530-49c4-ae78-d3069862fc71	4d2a435f-5ae8-4a20-be13-cf9208534cd2	g.chr6:87968799G>T	ENST00000369577.3	+	8	5495	c.5452G>T	c.(5452-5454)Gtc>Ttc	p.V1818F	ZNF292_ENST00000339907.4_Missense_Mutation_p.V1813F	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN	zinc finger protein 292	1818						nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		CTTTATAAGTGTCATGCCAAC	0.318																																						ENST00000369577.3																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89						c.(5452-5454)Gtc>Ttc		zinc finger protein 292							28	29	28					6																	87968799		1851	4087	5938	SO:0001583	missense	23036				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:87968799G>T	AB011102	CCDS47457.1	6q15	2008-10-23			ENSG00000188994	ENSG00000188994		"Zinc fingers, C2H2-type"	18410	protein-coding gene	gene with protein product						9628581	Standard	NM_015021		Approved	KIAA0530, ZFP292, bA393I2.3, Zn-15, Zn-16	uc003plm.4	O60281	OTTHUMG00000015164	ENST00000369577.3:c.5452G>T	6.37:g.87968799G>T	ENSP00000358590:p.Val1818Phe					ZNF292_ENST00000339907.4_Missense_Mutation_p.V1813F	p.V1818F	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0199)	8	5495	+		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)	1818					Q5W0B2|Q7Z3L7|Q9H8G3|Q9H8J4	Missense_Mutation	SNP	ENST00000369577.3	37	c.5452G>T	CCDS47457.1	.	.	.	.	.	.	.	.	.	.	G	0.822	-0.748348	0.03065	.	.	ENSG00000188994	ENST00000369577;ENST00000339907	T;T	0.10192	2.9;2.91	5.86	1.07	0.20283	.	0.427203	0.21916	N	0.067240	T	0.02533	0.0077	N	0.19112	0.55	0.09310	N	1	B	0.29805	0.257	B	0.30401	0.115	T	0.38329	-0.9666	10	0.72032	D	0.01	.	11.0607	0.47946	0.3771:0.0:0.6229:0.0	.	1818	O60281	ZN292_HUMAN	F	1818;1813	ENSP00000358590:V1818F;ENSP00000342847:V1813F	ENSP00000342847:V1813F	V	+	1	0	ZNF292	88025518	0.004000	0.15560	0.001000	0.08648	0.002000	0.02628	0.842000	0.27627	0.195000	0.20347	-0.145000	0.13849	GTC		0.318	ZNF292-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000376192.2	NM_015021		5	13	1	0	0.000602214	1	0.000621959	5	13					T	87968799	G	T	87968799	3	4	414	1	0	0	0	0	1	0	0	0	17823	1377	48	5	5482	5	ZNF292	6	87968799	Missense_Mutation	SNP	G	TCGA-VP-A87B-01A-11D-A34U-08	21763881	87968799	83146268	21	20081											
DDO	8528	broad.mit.edu	37	chr6	110726001	110726001	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tctccaaccacgggaggtagGcagggcattcacatttcagg	10	8	12	11	1	3	0	2	0	1	0	4	1	3	1	2	5	1	3	2	5	2	3			TCGA-VP-A87B-01A-11D-A34U-08	TCGA-VP-A87B-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba2e9eb3-d530-49c4-ae78-d3069862fc71	4d2a435f-5ae8-4a20-be13-cf9208534cd2	g.chr6:110726001G>A	ENST00000368924.3	-	4	533	c.518C>T	c.(517-519)gCc>gTc	p.A173V	DDO_ENST00000368923.3_Intron	NM_003649.2	NP_003640.2	Q99489	OXDD_HUMAN	D-aspartate oxidase	145					aspartate catabolic process (GO:0006533)|aspartate metabolic process (GO:0006531)|D-amino acid catabolic process (GO:0019478)|grooming behavior (GO:0007625)|hormone metabolic process (GO:0042445)|insemination (GO:0007320)|oxidation-reduction process (GO:0055114)	peroxisome (GO:0005777)	cofactor binding (GO:0048037)|D-aspartate oxidase activity (GO:0008445)|receptor binding (GO:0005102)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(4)|pancreas(1)|skin(3)	24		all_cancers(87;3.47e-21)|all_epithelial(87;9.03e-20)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_lung(197;2.98e-05)|Lung NSC(302;3.25e-05)|Colorectal(196;3.46e-05)|Ovarian(999;0.00327)		all cancers(137;2.54e-48)|Epithelial(106;3.11e-44)|OV - Ovarian serous cystadenocarcinoma(136;2.08e-24)|BRCA - Breast invasive adenocarcinoma(108;0.000141)|GBM - Glioblastoma multiforme(226;0.00046)		CGGGAGGTAGGCAGGGCATTC	0.433																																						ENST00000368924.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(4)|pancreas(1)|skin(3)	24						c.(517-519)gCc>gTc		D-aspartate oxidase							98	91	94					6																	110726001		2203	4300	6503	SO:0001583	missense	8528				aspartate catabolic process	peroxisome	binding|D-amino-acid oxidase activity|D-aspartate oxidase activity	g.chr6:110726001G>A	D89858	CCDS5082.1, CCDS5083.1	6q22.1	2008-02-05			ENSG00000203797	ENSG00000203797	1.4.3.1		2727	protein-coding gene	gene with protein product		124450				9163533	Standard	NM_003649		Approved		uc003puc.3	Q99489	OTTHUMG00000015360	ENST00000368924.3:c.518C>T	6.37:g.110726001G>A	ENSP00000357920:p.Ala173Val					DDO_ENST00000368925.1_Missense_Mutation_p.A145V|DDO_ENST00000368923.3_Intron	p.A173V	NM_003649.2	NP_003640.2	Q99489	OXDD_HUMAN		all cancers(137;2.54e-48)|Epithelial(106;3.11e-44)|OV - Ovarian serous cystadenocarcinoma(136;2.08e-24)|BRCA - Breast invasive adenocarcinoma(108;0.000141)|GBM - Glioblastoma multiforme(226;0.00046)	4	533	-		all_cancers(87;3.47e-21)|all_epithelial(87;9.03e-20)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_lung(197;2.98e-05)|Lung NSC(302;3.25e-05)|Colorectal(196;3.46e-05)|Ovarian(999;0.00327)	145					A8KAG4|Q5JXM4|Q5JXM5|Q5JXM6|Q8N552	Missense_Mutation	SNP	ENST00000368924.3	37	c.518C>T	CCDS5082.1	.	.	.	.	.	.	.	.	.	.	G	12.06	1.823336	0.32237	.	.	ENSG00000203797	ENST00000368924;ENST00000368925	D;D	0.81996	-1.56;-1.56	5.62	-0.218	0.13142	.	0.836675	0.11250	N	0.583692	T	0.36608	0.0973	N	0.03000	-0.44	0.19300	N	0.99997	B	0.02656	0.0	B	0.06405	0.002	T	0.37888	-0.9686	10	0.12766	T	0.61	-1.4661	10.9066	0.47084	0.5021:0.0:0.4979:0.0	.	173	Q99489-3	.	V	173;145	ENSP00000357920:A173V;ENSP00000357921:A145V	ENSP00000357920:A173V	A	-	2	0	DDO	110832694	0.004000	0.15560	0.121000	0.21740	0.906000	0.53458	0.120000	0.15647	-0.127000	0.11661	0.561000	0.74099	GCC		0.433	DDO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041796.1			20	3	0	0	0	1	0	20	3					A	110726001	G	A	110726001	3	1	414	1	0	0	0	0	1	0	0	0	4334	1203	42	3	599	3	DDO	6	110726001	Missense_Mutation	SNP	G	TCGA-VP-A87B-01A-11D-A34U-08	22757202	110726001	60389066	22	20082											
MAD1L1	8379	broad.mit.edu	37	chr7	1937885	1937885	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cggcgtacagcgaggtcagcCggtactggttctccgtggtg	5	9	16	11	5	2	0	1	0	1	0	3	1	2	0	2	5	4	3	2	5	2	3			TCGA-VP-A87B-01A-11D-A34U-08	TCGA-VP-A87B-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba2e9eb3-d530-49c4-ae78-d3069862fc71	4d2a435f-5ae8-4a20-be13-cf9208534cd2	g.chr7:1937885C>T	ENST00000406869.1	-	18	2506	c.1949G>A	c.(1948-1950)cGg>cAg	p.R650Q	MAD1L1_ENST00000265854.7_Missense_Mutation_p.R650Q|MAD1L1_ENST00000402746.1_Missense_Mutation_p.R558Q|MAD1L1_ENST00000399654.2_Missense_Mutation_p.R650Q			Q9Y6D9	MD1L1_HUMAN	MAD1 mitotic arrest deficient-like 1 (yeast)	650					mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|regulation of metaphase plate congression (GO:0090235)	actin cytoskeleton (GO:0015629)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|mitotic spindle (GO:0072686)|nucleus (GO:0005634)|spindle (GO:0005819)				central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(5)	36		Ovarian(82;0.0272)		UCEC - Uterine corpus endometrioid carcinoma (27;0.134)|OV - Ovarian serous cystadenocarcinoma(56;3.63e-14)		CGAGGTCAGCCGGTACTGGTT	0.617																																						ENST00000406869.1																			0				central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(5)	36						c.(1948-1950)cGg>cAg		MAD1 mitotic arrest deficient-like 1 (yeast)							122	146	138					7																	1937885		2174	4264	6438	SO:0001583	missense	8379				cell division|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase|mitotic prometaphase|mitotic telophase	actin cytoskeleton|centrosome|condensed chromosome kinetochore|cytosol|mitochondrion|nucleus|spindle	protein binding	g.chr7:1937885C>T	U33822	CCDS43539.1	7p22	2013-01-17	2001-11-28		ENSG00000002822	ENSG00000002822			6762	protein-coding gene	gene with protein product		602686	"MAD1 (mitotic arrest deficient, yeast, homolog)-like 1"			10049595, 9546394	Standard	XM_005249876		Approved	HsMAD1, TXBP181, MAD1, PIG9, TP53I9	uc003slg.1	Q9Y6D9	OTTHUMG00000151493	ENST00000406869.1:c.1949G>A	7.37:g.1937885C>T	ENSP00000385334:p.Arg650Gln					MAD1L1_ENST00000265854.7_Missense_Mutation_p.R650Q|MAD1L1_ENST00000402746.1_Missense_Mutation_p.R558Q|MAD1L1_ENST00000399654.2_Missense_Mutation_p.R650Q	p.R650Q			Q9Y6D9	MD1L1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.134)|OV - Ovarian serous cystadenocarcinoma(56;3.63e-14)	18	2506	-		Ovarian(82;0.0272)	650					B3KR41|Q13312|Q75MI0|Q86UM4|Q9UNH0	Missense_Mutation	SNP	ENST00000406869.1	37	c.1949G>A	CCDS43539.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.971591	0.74246	.	.	ENSG00000002822	ENST00000402746;ENST00000399654;ENST00000406869;ENST00000442131;ENST00000265854;ENST00000450235;ENST00000437877	T;T;T;T;T;T	0.33865	1.39;1.39;1.39;1.39;1.39;1.39	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	T	0.59088	0.2168	M	0.64997	1.995	0.58432	D	0.999995	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.80764	0.993;0.994;0.99	T	0.59484	-0.7446	10	0.62326	D	0.03	-46.1386	17.7612	0.88465	0.0:1.0:0.0:0.0	.	649;558;650	A4D218;B3KR41;Q9Y6D9	.;.;MD1L1_HUMAN	Q	558;650;650;201;650;201;106	ENSP00000384155:R558Q;ENSP00000382562:R650Q;ENSP00000385334:R650Q;ENSP00000265854:R650Q;ENSP00000394886:R201Q;ENSP00000394069:R106Q	ENSP00000265854:R650Q	R	-	2	0	MAD1L1	1904411	1.000000	0.71417	0.997000	0.53966	0.665000	0.39181	5.603000	0.67619	2.623000	0.88846	0.655000	0.94253	CGG		0.617	MAD1L1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322871.1	NM_003550		15	33	0	0	0	1	0	15	33					T	1937885	C	T	1937885	3	4	414	1	0	0	0	0	1	0	0	0	9147	652	23	2	215	2	MAD1L1	7	1937885	Missense_Mutation	SNP	C	TCGA-VP-A87B-01A-11D-A34U-08		1937885	157200778	23	20083											
OSBPL3	26031	broad.mit.edu	37	chr7	24892244	24892244	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tattaaaagctgaccttaaaGtgaagtaaactatagagata	19	11	7	4	0	0	3	0	2	0	1	0	4	0	3	1	0	2	2	1	0	11	7			TCGA-VP-A87B-01A-11D-A34U-08	TCGA-VP-A87B-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba2e9eb3-d530-49c4-ae78-d3069862fc71	4d2a435f-5ae8-4a20-be13-cf9208534cd2	g.chr7:24892244G>A	ENST00000313367.2	-	11	1488	c.1037C>T	c.(1036-1038)aCt>aTt	p.T346I	OSBPL3_ENST00000409069.1_Missense_Mutation_p.T315I|OSBPL3_ENST00000353930.1_Missense_Mutation_p.T346I|OSBPL3_ENST00000396431.1_Missense_Mutation_p.T315I|OSBPL3_ENST00000352860.1_Missense_Mutation_p.T315I|OSBPL3_ENST00000431825.2_Missense_Mutation_p.T315I|OSBPL3_ENST00000396429.1_Missense_Mutation_p.T346I	NM_015550.2	NP_056365.1	Q9H4L5	OSBL3_HUMAN	oxysterol binding protein-like 3	346					lipid transport (GO:0006869)	cytosol (GO:0005829)|membrane (GO:0016020)|nuclear membrane (GO:0031965)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)	cholesterol binding (GO:0015485)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(19)|prostate(1)|skin(3)|urinary_tract(1)	43						TGACCTTAAAGTGAAGTAAAC	0.368																																						ENST00000313367.2																			0				breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(19)|prostate(1)|skin(3)|urinary_tract(1)	43						c.(1036-1038)aCt>aTt		oxysterol binding protein-like 3							51	46	47					7																	24892244		2203	4300	6503	SO:0001583	missense	26031				lipid transport		lipid binding|protein binding	g.chr7:24892244G>A	AB014604	CCDS5390.1, CCDS5391.1, CCDS5392.1, CCDS47564.1	7p15.3	2013-01-10			ENSG00000070882	ENSG00000070882		"Oxysterol binding proteins", "Pleckstrin homology (PH) domain containing"	16370	protein-coding gene	gene with protein product		606732		OSBP3		9734811	Standard	XM_005249698		Approved	ORP-3, ORP3, KIAA0704	uc003sxf.3	Q9H4L5	OTTHUMG00000023277	ENST00000313367.2:c.1037C>T	7.37:g.24892244G>A	ENSP00000315410:p.Thr346Ile					OSBPL3_ENST00000409069.1_Missense_Mutation_p.T315I|OSBPL3_ENST00000431825.2_Missense_Mutation_p.T315I|OSBPL3_ENST00000396431.1_Missense_Mutation_p.T315I|OSBPL3_ENST00000352860.1_Missense_Mutation_p.T315I|OSBPL3_ENST00000396429.1_Missense_Mutation_p.T346I|OSBPL3_ENST00000353930.1_Missense_Mutation_p.T346I	p.T346I	NM_015550.2	NP_056365.1	Q9H4L5	OSBL3_HUMAN			11	1488	-			346					A4D167|A4D168|A4D169|A4D170|A4D171|A4D172|B8ZZ79|B8ZZP0|O14591|O43357|O43358|Q8N702|Q8N703|Q8N704|Q8NFH0|Q8NFH1|Q8NI12|Q8NI13|Q9BZF4|Q9UED6	Missense_Mutation	SNP	ENST00000313367.2	37	c.1037C>T	CCDS5390.1	.	.	.	.	.	.	.	.	.	.	G	17.10	3.304260	0.60305	.	.	ENSG00000070882	ENST00000313367;ENST00000352860;ENST00000353930;ENST00000431825;ENST00000396431;ENST00000396429;ENST00000409069	T;T;T;T;T;T;T	0.44881	2.25;0.93;0.91;2.25;0.93;0.91;2.25	5.16	5.16	0.70880	.	0.231677	0.46145	D	0.000317	T	0.53706	0.1813	L	0.58101	1.795	0.47308	D	0.99938	P;P;B;P;B;B	0.44877	0.842;0.845;0.372;0.558;0.372;0.423	P;P;B;B;B;B	0.51355	0.603;0.667;0.339;0.415;0.387;0.236	T	0.48703	-0.9012	10	0.33940	T	0.23	-3.3502	18.6679	0.91499	0.0:0.0:1.0:0.0	.	315;346;315;315;346;346	Q9H4L5-8;Q9H4L5-7;Q9H4L5-4;Q9H4L5-2;Q9H4L5-3;Q9H4L5	.;.;.;.;.;OSBL3_HUMAN	I	346;315;346;315;315;346;315	ENSP00000315410:T346I;ENSP00000315331:T315I;ENSP00000315277:T346I;ENSP00000389779:T315I;ENSP00000379708:T315I;ENSP00000379706:T346I;ENSP00000386953:T315I	ENSP00000315410:T346I	T	-	2	0	OSBPL3	24858769	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.363000	0.66104	2.420000	0.82092	0.561000	0.74099	ACT		0.368	OSBPL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214085.2			10	57	0	0	0	1	0	10	57					A	24892244	G	A	24892244	3	1	414	1	0	0	0	0	1	0	0	0	11279	1029	36	3	1678	3	OSBPL3	7	24892244	Missense_Mutation	SNP	G	TCGA-VP-A87B-01A-11D-A34U-08	22954359	24892244	134246419	24	20084											
GHRHR	2692	broad.mit.edu	37	chr7	31016135	31016135	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagacaatgctggcctgggcAtccgcctccccctggagctg	6	7	12	16	1	0	1	0	0	0	1	2	2	2	2	5	3	2	3	5	3	1	0			TCGA-VP-A87B-01A-11D-A34U-08	TCGA-VP-A87B-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba2e9eb3-d530-49c4-ae78-d3069862fc71	4d2a435f-5ae8-4a20-be13-cf9208534cd2	g.chr7:31016135A>G	ENST00000326139.2	+	11	1112	c.1066A>G	c.(1066-1068)Atc>Gtc	p.I356V	GHRHR_ENST00000409904.3_Missense_Mutation_p.I292V|GHRHR_ENST00000409316.1_Missense_Mutation_p.H122R|GHRHR_ENST00000461424.1_3'UTR	NM_000823.3	NP_000814.2	Q02643	GHRHR_HUMAN	growth hormone releasing hormone receptor	356					activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|cAMP-mediated signaling (GO:0019933)|cell maturation (GO:0048469)|cellular response to insulin stimulus (GO:0032869)|determination of adult lifespan (GO:0008340)|growth hormone secretion (GO:0030252)|hormone metabolic process (GO:0042445)|lactation (GO:0007595)|multicellular organismal reproductive process (GO:0048609)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cell proliferation (GO:0008284)|positive regulation of growth hormone secretion (GO:0060124)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of multicellular organism growth (GO:0040018)|regulation of intracellular steroid hormone receptor signaling pathway (GO:0033143)|regulation of protein metabolic process (GO:0051246)|response to estrogen (GO:0043627)|response to glucocorticoid (GO:0051384)|response to insulin (GO:0032868)|somatotropin secreting cell development (GO:0060133)|water homeostasis (GO:0030104)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nuclear inner membrane (GO:0005637)|nuclear matrix (GO:0016363)|nuclear outer membrane (GO:0005640)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)	G-protein coupled receptor activity (GO:0004930)|growth factor binding (GO:0019838)|growth hormone-releasing hormone receptor activity (GO:0016520)|peptide hormone binding (GO:0017046)			biliary_tract(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(18)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35					Sermorelin(DB00010)|Tesamorelin(DB08869)	TGGCCTGGGCATCCGCCTCCC	0.572																																						ENST00000409904.3																			0				biliary_tract(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(18)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						c.(874-876)Atc>Gtc		growth hormone releasing hormone receptor	Sermorelin(DB00010)						53	46	48					7																	31016135		2203	4300	6503	SO:0001583	missense	2692				activation of adenylate cyclase activity by G-protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of cell proliferation|positive regulation of growth hormone secretion|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of multicellular organism growth|response to estrogen stimulus|response to glucocorticoid stimulus	cell surface|integral to membrane|nuclear inner membrane|nuclear matrix|nuclear outer membrane|plasma membrane|stored secretory granule	growth factor binding|growth hormone-releasing hormone receptor activity|peptide hormone binding	g.chr7:31016135A>G		CCDS5432.1	7p14	2012-08-10			ENSG00000106128	ENSG00000106128		"GPCR / Class B : Glucagon receptors"	4266	protein-coding gene	gene with protein product		139191				7680413, 7514564	Standard	NM_000823		Approved		uc003tbx.3	Q02643	OTTHUMG00000152801	ENST00000326139.2:c.1066A>G	7.37:g.31016135A>G	ENSP00000320180:p.Ile356Val					GHRHR_ENST00000326139.2_Missense_Mutation_p.I356V|GHRHR_ENST00000409316.1_Missense_Mutation_p.H122R|GHRHR_ENST00000461424.1_3'UTR	p.I292V			Q02643	GHRHR_HUMAN			8	1132	+			356					Q99863	Missense_Mutation	SNP	ENST00000326139.2	37	c.874A>G	CCDS5432.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	a|a	3.277|3.277	-0.147942|-0.147942	0.06627|0.06627	.|.	.|.	ENSG00000106128|ENSG00000106128	ENST00000409233;ENST00000409316|ENST00000326139;ENST00000409904	.|T;T	.|0.40225	.|1.04;1.04	5.05|5.05	-4.61|-4.61	0.03380|0.03380	.|GPCR, family 2-like (1);	.|.	.|.	.|.	.|.	T|T	0.16685|0.16685	0.0401|0.0401	N|N	0.16098|0.16098	0.37|0.37	0.80722|0.80722	D|D	1|1	B|B;B	0.09022|0.09022	0.002|0.002;0.002	B|B;B	0.08055|0.10450	0.003|0.005;0.004	T|T	0.37776|0.37776	-0.9691|-0.9691	8|9	0.87932|0.06236	D|T	0|0.91	.|.	6.3329|6.3329	0.21281|0.21281	0.2947:0.3359:0.3693:0.0|0.2947:0.3359:0.3693:0.0	.|.	122|292;356	Q9HB43|Q9HB45;Q02643	.|.;GHRHR_HUMAN	R|V	143;122|356;292	.|ENSP00000320180:I356V;ENSP00000387113:I292V	ENSP00000386919:H143R|ENSP00000320180:I356V	H|I	+|+	2|1	0|0	GHRHR|GHRHR	30982660|30982660	0.000000|0.000000	0.05858|0.05858	0.820000|0.820000	0.32676|0.32676	0.975000|0.975000	0.68041|0.68041	-0.921000|-0.921000	0.04008|0.04008	-0.662000|-0.662000	0.05338|0.05338	0.446000|0.446000	0.29264|0.29264	CAT|ATC		0.572	GHRHR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327967.2			11	21	0	0	0	1	0	11	21					G	31016135	A	G	31016135	3	3	414	1	0	0	0	0	1	0	0	0	6373	217	8	4	1148	4	GHRHR	7	31016135	Missense_Mutation	SNP	A	TCGA-VP-A87B-01A-11D-A34U-08	6123891	31016135	128122528	25	20085											
BBS9	27241	broad.mit.edu	37	chr7	33296923	33296923	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagagctatgcttttggaaGatttctccctggctttcttc	6	16	10	9	0	2	2	0	0	2	2	4	4	2	3	1	3	2	3	1	3	2	6			TCGA-VP-A87B-01A-11D-A34U-08	TCGA-VP-A87B-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba2e9eb3-d530-49c4-ae78-d3069862fc71	4d2a435f-5ae8-4a20-be13-cf9208534cd2	g.chr7:33296923G>T	ENST00000242067.6	+	6	1039	c.518G>T	c.(517-519)aGa>aTa	p.R173I	BBS9_ENST00000396127.2_Missense_Mutation_p.R173I|BBS9_ENST00000425508.2_Missense_Mutation_p.R128I|BBS9_ENST00000355070.2_Missense_Mutation_p.R173I|BBS9_ENST00000354265.4_Missense_Mutation_p.R173I|BBS9_ENST00000350941.3_Missense_Mutation_p.R173I	NM_198428.2	NP_940820.1	Q3SYG4	PTHB1_HUMAN	Bardet-Biedl syndrome 9	173					cilium assembly (GO:0042384)|fat cell differentiation (GO:0045444)|protein transport (GO:0015031)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	BBSome (GO:0034464)|cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)			BBS9/PKD1L1(2)	NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	50			GBM - Glioblastoma multiforme(11;0.0894)			GCTTTTGGAAGATTTCTCCCT	0.428									Bardet-Biedl syndrome																													ENST00000242067.6																		BBS9/PKD1L1(2)	0				NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	50						c.(517-519)aGa>aTa		Bardet-Biedl syndrome 9							178	170	173					7																	33296923		2203	4300	6503	SO:0001583	missense	27241	Bardet-Biedl syndrome	Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome	fat cell differentiation|response to stimulus|visual perception	BBSome|cilium membrane|microtubule organizing center|nucleus	protein binding	g.chr7:33296923G>T		CCDS5441.1, CCDS34618.1, CCDS43566.1, CCDS47572.1	7p14	2014-06-17			ENSG00000122507	ENSG00000122507			30000	protein-coding gene	gene with protein product	"parathyroid hormone responsive B1 gene"	607968				16380913, 10221542	Standard	XM_005249701		Approved	B1, PTHB1	uc003tdn.1	Q3SYG4	OTTHUMG00000128659	ENST00000242067.6:c.518G>T	7.37:g.33296923G>T	ENSP00000242067:p.Arg173Ile					BBS9_ENST00000425508.2_Missense_Mutation_p.R128I|BBS9_ENST00000396127.2_Missense_Mutation_p.R173I|BBS9_ENST00000355070.2_Missense_Mutation_p.R173I|BBS9_ENST00000354265.4_Missense_Mutation_p.R173I|BBS9_ENST00000350941.3_Missense_Mutation_p.R173I	p.R173I	NM_198428.2	NP_940820.1	Q3SYG4	PTHB1_HUMAN	GBM - Glioblastoma multiforme(11;0.0894)		6	1039	+			173					E9PDC9|P78514|Q7KYS6|Q7KYS7|Q8N570|Q99844|Q99854|Q9Y699|Q9Y6A0	Missense_Mutation	SNP	ENST00000242067.6	37	c.518G>T	CCDS43566.1	.	.	.	.	.	.	.	.	.	.	G	34	5.344717	0.95807	.	.	ENSG00000122507	ENST00000242067;ENST00000350941;ENST00000396127;ENST00000355070;ENST00000354265;ENST00000396132;ENST00000396125;ENST00000425508;ENST00000442858;ENST00000537775	D;D;D;D;D;D;D	0.83591	-1.74;-1.74;-1.74;-1.74;-1.74;-1.74;-1.74	5.86	5.86	0.93980	.	0.000000	0.85682	D	0.000000	D	0.91536	0.7327	M	0.80746	2.51	0.80722	D	1	D;D;D;D;D	0.76494	0.999;0.999;0.999;0.999;0.999	D;D;D;D;D	0.80764	0.983;0.994;0.994;0.994;0.991	D	0.89140	0.3516	10	0.31617	T	0.26	-18.4266	20.2019	0.98263	0.0:0.0:1.0:0.0	.	173;173;173;173;173	B3KQ86;Q3SYG4-2;E9PDC9;Q3SYG4-4;Q3SYG4	.;.;.;.;PTHB1_HUMAN	I	173;173;173;173;173;173;173;128;51;51	ENSP00000242067:R173I;ENSP00000313122:R173I;ENSP00000379433:R173I;ENSP00000347182:R173I;ENSP00000346214:R173I;ENSP00000405151:R128I;ENSP00000388646:R51I	ENSP00000242067:R173I	R	+	2	0	BBS9	33263448	1.000000	0.71417	0.931000	0.37212	0.914000	0.54420	9.837000	0.99465	2.776000	0.95493	0.655000	0.94253	AGA		0.428	BBS9-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000329064.1			39	69	1	0	1.96642e-18	1	2.17341e-18	39	69					T	33296923	G	T	33296923	3	4	414	1	0	0	0	0	1	0	0	0	1342	942	33	5	536	5	BBS9	7	33296923	Missense_Mutation	SNP	G	TCGA-VP-A87B-01A-11D-A34U-08	2280788	33296923	125841740	26	20086											
PCLO	27445	broad.mit.edu	37	chr7	82545841	82545841	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tactccctggaggtaggctcGttctctcttttctctctcct	3	17	7	14	1	4	0	0	0	4	0	9	1	5	1	2	3	1	3	2	3	2	5			TCGA-VP-A87B-01A-11D-A34U-08	TCGA-VP-A87B-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba2e9eb3-d530-49c4-ae78-d3069862fc71	4d2a435f-5ae8-4a20-be13-cf9208534cd2	g.chr7:82545841G>A	ENST00000333891.9	-	7	11798	c.11461C>T	c.(11461-11463)Cga>Tga	p.R3821*	PCLO_ENST00000423517.2_Nonsense_Mutation_p.R3821*|PCLO_ENST00000437081.1_Nonsense_Mutation_p.R541*	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein											breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						AGGTAGGCTCGTTCTCTCTTT	0.448																																						ENST00000423517.2																			0				breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						c.(11461-11463)Cga>Tga		piccolo presynaptic cytomatrix protein							211	194	199					7																	82545841		1958	4151	6109	SO:0001587	stop_gained	27445				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	g.chr7:82545841G>A	AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"aczonin"	604918	"piccolo (presynaptic cytomatrix protein)"			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.11461C>T	7.37:g.82545841G>A	ENSP00000334319:p.Arg3821*					PCLO_ENST00000333891.8_Nonsense_Mutation_p.R3821*|PCLO_ENST00000437081.1_Nonsense_Mutation_p.R541*	p.R3821*	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN			7	11798	-			3752			Gln-rich.			Nonsense_Mutation	SNP	ENST00000333891.9	37	c.11461C>T	CCDS47630.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.176291	0.78564	.	.	ENSG00000186472	ENST00000333891;ENST00000423517;ENST00000437081	.	.	.	5.8	0.357	0.16079	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	17.208	0.86923	0.0:0.0:0.3015:0.6985	.	.	.	.	X	3821;3821;541	.	ENSP00000334319:R3821X	R	-	1	2	PCLO	82383777	1.000000	0.71417	0.984000	0.44739	0.890000	0.51754	1.902000	0.39848	0.038000	0.15604	-0.311000	0.09066	CGA		0.448	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510		63	44	0	0	0	1	0	63	44					A	82545841	G	A	82545841	4	1	414	1	0	0	0	0	0	1	0	0	11583	1153	40	1	4060	1	PCLO	7	82545841	Nonsense_Mutation	SNP	G	TCGA-VP-A87B-01A-11D-A34U-08	49248918	82545841	76592822	27	20087											
DBF4	10926	broad.mit.edu	37	chr7	87536921	87536921	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aatgtaacatacaggcatctGtacatgtttctgatttcagt	12	15	7	7	0	3	1	1	1	2	0	3	1	3	1	0	1	3	4	0	1	4	5			TCGA-VP-A87B-01A-11D-A34U-08	TCGA-VP-A87B-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba2e9eb3-d530-49c4-ae78-d3069862fc71	4d2a435f-5ae8-4a20-be13-cf9208534cd2	g.chr7:87536921G>C	ENST00000265728.1	+	12	1972	c.1468G>C	c.(1468-1470)Gta>Cta	p.V490L		NM_006716.3	NP_006707.1	Q9UBU7	DBF4A_HUMAN	DBF4 zinc finger	490					DNA replication (GO:0006260)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|positive regulation of catalytic activity (GO:0043085)	nucleoplasm (GO:0005654)	enzyme activator activity (GO:0008047)|nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			endometrium(4)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|skin(3)	28	Esophageal squamous(14;0.00202)	Breast(660;0.0334)				ACAGGCATCTGTACATGTTTC	0.368																																						ENST00000265728.1																			0				endometrium(4)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|skin(3)	28						c.(1468-1470)Gta>Cta		DBF4 homolog (S. cerevisiae)							84	81	82					7																	87536921		2203	4300	6503	SO:0001583	missense	10926				cell cycle checkpoint|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle	nucleoplasm	enzyme activator activity|nucleic acid binding|protein binding|zinc ion binding	g.chr7:87536921G>C	AF160876	CCDS5611.1	7q21.3	2014-02-17	2014-02-17		ENSG00000006634	ENSG00000006634		"Zinc fingers, DBF-type"	17364	protein-coding gene	gene with protein product	"activator of S phase kinase", "chiffon homolog (Drosophila)", "zinc finger, DBF-type containing 1", "DBF4 zinc finger A"	604281	"DBF4 homolog (S. cerevisiae)"			10373557, 10517317	Standard	NM_006716		Approved	ASK, chif, ZDBF1, DBF4A	uc003ujf.1	Q9UBU7	OTTHUMG00000131034	ENST00000265728.1:c.1468G>C	7.37:g.87536921G>C	ENSP00000265728:p.Val490Leu						p.V490L	NM_006716.3	NP_006707.1	Q9UBU7	DBF4A_HUMAN			12	1972	+	Esophageal squamous(14;0.00202)	Breast(660;0.0334)	490					A4D1D8|A8K954|O75226|Q75MS6|Q75N01|Q9Y2M6	Missense_Mutation	SNP	ENST00000265728.1	37	c.1468G>C	CCDS5611.1	.	.	.	.	.	.	.	.	.	.	G	0.008	-1.926783	0.00493	.	.	ENSG00000006634	ENST00000265728	T	0.31247	1.5	5.68	-11.4	0.00090	.	1.434700	0.04152	N	0.321578	T	0.17450	0.0419	N	0.19112	0.55	0.09310	N	1	B;B	0.17465	0.022;0.003	B;B	0.14023	0.01;0.004	T	0.32534	-0.9903	10	0.10636	T	0.68	-0.0393	17.3369	0.87283	0.2414:0.0858:0.6729:0.0	.	266;490	B7Z8C6;Q9UBU7	.;DBF4A_HUMAN	L	490	ENSP00000265728:V490L	ENSP00000265728:V490L	V	+	1	0	DBF4	87374857	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	-0.706000	0.05047	-2.751000	0.00374	-0.768000	0.03414	GTA		0.368	DBF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253678.1	NM_006716		6	103	0	0	0	1	0	6	103					C	87536921	G	C	87536921	3	2	414	1	0	0	0	0	1	0	0	0	4248	1377	48	5	1514	5	DBF4	7	87536921	Missense_Mutation	SNP	G	TCGA-VP-A87B-01A-11D-A34U-08	4991080	87536921	71601742	28	20088											
DOCK4	9732	broad.mit.edu	37	chr7	111629104	111629104	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aagccgggcagtaatgtggcGcttcacgtccttcatccggt	7	10	12	12	4	2	0	2	0	0	0	4	0	4	0	3	3	1	3	3	3	2	3	rs202157965		TCGA-VP-A87B-01A-11D-A34U-08	TCGA-VP-A87B-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba2e9eb3-d530-49c4-ae78-d3069862fc71	4d2a435f-5ae8-4a20-be13-cf9208534cd2	g.chr7:111629104G>A	ENST00000437633.1	-	6	686	c.430C>T	c.(430-432)Cgc>Tgc	p.R144C	DOCK4_ENST00000476846.1_5'UTR|DOCK4_ENST00000428084.1_Missense_Mutation_p.R144C	NM_014705.3	NP_055520.3	Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4	144					cell chemotaxis (GO:0060326)|positive regulation of Rac GTPase activity (GO:0032855)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)|stereocilium (GO:0032420)|stereocilium bundle (GO:0032421)	guanyl-nucleotide exchange factor activity (GO:0005085)|PDZ domain binding (GO:0030165)|Rac GTPase activator activity (GO:0030675)|Rac GTPase binding (GO:0048365)|receptor tyrosine kinase binding (GO:0030971)	p.R132C(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72		Acute lymphoblastic leukemia(1;0.0441)				GTAATGTGGCGCTTCACGTCC	0.572																																						ENST00000428084.1																			1	Substitution - Missense(1)	p.R132C(1)	large_intestine(1)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72						c.(430-432)Cgc>Tgc		dedicator of cytokinesis 4		G	CYS/ARG	0,4152		0,0,2076	65	67	66		430	4.8	1	7		66	3,8389		0,3,4193	yes	missense	DOCK4	NM_014705.3	180	0,3,6269	AA,AG,GG		0.0357,0.0,0.0239	possibly-damaging	144/1967	111629104	3,12541	2076	4196	6272	SO:0001583	missense	9732				cell chemotaxis	cytosol|endomembrane system|membrane|stereocilium	GTP binding|guanyl-nucleotide exchange factor activity|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|receptor tyrosine kinase binding|SH3 domain binding	g.chr7:111629104G>A		CCDS47688.1	7q31.1	2007-08-07			ENSG00000128512	ENSG00000128512			19192	protein-coding gene	gene with protein product		607679				12432077, 12628187	Standard	XM_006716188		Approved	FLJ34238, KIAA0716	uc003vfx.3	Q8N1I0	OTTHUMG00000155077	ENST00000437633.1:c.430C>T	7.37:g.111629104G>A	ENSP00000404179:p.Arg144Cys					DOCK4_ENST00000437633.1_Missense_Mutation_p.R144C|DOCK4_ENST00000476846.1_5'UTR	p.R144C			Q8N1I0	DOCK4_HUMAN			6	702	-		Acute lymphoblastic leukemia(1;0.0441)	144					O14584|O94824|Q8NB45	Missense_Mutation	SNP	ENST00000437633.1	37	c.430C>T	CCDS47688.1	.	.	.	.	.	.	.	.	.	.	G	24.5	4.536147	0.85812	0.0	3.57E-4	ENSG00000128512	ENST00000352877;ENST00000428084;ENST00000437633;ENST00000342288;ENST00000544250	T;T	0.03181	4.02;4.02	5.76	4.85	0.62838	.	0.117594	0.64402	D	0.000013	T	0.11153	0.0272	M	0.62723	1.935	0.80722	D	1	D;D;D;D	0.71674	0.998;0.998;0.998;0.998	P;P;P;P	0.55455	0.586;0.776;0.772;0.696	T	0.00115	-1.2039	10	0.72032	D	0.01	.	13.1119	0.59278	0.0:0.0:0.7138:0.2862	.	144;144;144;144	A4D0S8;Q149N6;Q149N5;Q8N1I0	.;.;.;DOCK4_HUMAN	C	132;144;144;132;143	ENSP00000410746:R144C;ENSP00000404179:R144C	ENSP00000345432:R132C	R	-	1	0	DOCK4	111416340	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	6.688000	0.74557	2.706000	0.92434	0.655000	0.94253	CGC		0.572	DOCK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338369.4	NM_014705		13	17	0	0	0	1	0	13	17					A	111629104	G	A	111629104	3	1	414	1	0	0	0	0	1	0	0	0	4689	1087	38	1	5658	1	DOCK4	7	111629104	Missense_Mutation	SNP	G	TCGA-VP-A87B-01A-11D-A34U-08	24092183	111629104	47509559	29	20089											
NRG1	3084	broad.mit.edu	37	chr8	32611943	32611943	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccataaccggcatctgcatcGccctccttgtggtcggcatc	6	10	9	16	3	1	0	0	0	1	0	5	0	2	0	4	3	2	3	4	3	1	2			TCGA-VP-A87B-01A-11D-A34U-08	TCGA-VP-A87B-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba2e9eb3-d530-49c4-ae78-d3069862fc71	4d2a435f-5ae8-4a20-be13-cf9208534cd2	g.chr8:32611943G>T	ENST00000405005.3	+	8	754	c.754G>T	c.(754-756)Gcc>Tcc	p.A252S	NRG1_ENST00000287845.5_Missense_Mutation_p.A223S|NRG1_ENST00000521670.1_Missense_Mutation_p.A252S|NRG1_ENST00000539990.1_Missense_Mutation_p.A95S|NRG1_ENST00000341377.5_3'UTR|NRG1_ENST00000338921.4_Missense_Mutation_p.A260S|NRG1_ENST00000519301.1_Missense_Mutation_p.A202S|NRG1_ENST00000287842.3_Missense_Mutation_p.A249S|NRG1_ENST00000356819.4_Missense_Mutation_p.A257S|NRG1_ENST00000523079.1_Missense_Mutation_p.A249S			Q02297	NRG1_HUMAN	neuregulin 1	252					activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|cardiac conduction system development (GO:0003161)|cardiac muscle cell differentiation (GO:0055007)|cardiac muscle cell myoblast differentiation (GO:0060379)|cell communication (GO:0007154)|cell migration (GO:0016477)|cell morphogenesis (GO:0000902)|cell proliferation (GO:0008283)|cellular protein complex disassembly (GO:0043624)|embryo development (GO:0009790)|endocardial cell differentiation (GO:0060956)|epidermal growth factor receptor signaling pathway (GO:0007173)|ERBB signaling pathway (GO:0038127)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glial cell fate commitment (GO:0021781)|innate immune response (GO:0045087)|locomotory behavior (GO:0007626)|mammary gland development (GO:0030879)|MAPK cascade (GO:0000165)|negative regulation of cardiac muscle cell apoptotic process (GO:0010667)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of secretion (GO:0051048)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|neural crest cell development (GO:0014032)|neuron fate commitment (GO:0048663)|neurotransmitter receptor metabolic process (GO:0045213)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peripheral nervous system development (GO:0007422)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell growth (GO:0030307)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of Ras protein signal transduction (GO:0046579)|positive regulation of striated muscle cell differentiation (GO:0051155)|regulation of protein heterodimerization activity (GO:0043497)|regulation of protein homodimerization activity (GO:0043496)|synapse assembly (GO:0007416)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|ventricular cardiac muscle cell differentiation (GO:0055012)|ventricular trabecula myocardium morphogenesis (GO:0003222)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|axon (GO:0030424)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)	cytokine activity (GO:0005125)|ErbB-3 class receptor binding (GO:0043125)|growth factor activity (GO:0008083)|protein tyrosine kinase activator activity (GO:0030296)|receptor binding (GO:0005102)|receptor tyrosine kinase binding (GO:0030971)|transcription cofactor activity (GO:0003712)|transmembrane receptor protein tyrosine kinase activator activity (GO:0030297)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(1)|skin(1)	39		Breast(100;0.203)		KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943)		CATCTGCATCGCCCTCCTTGT	0.522																																						ENST00000338921.4																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(1)|skin(1)	39						c.(778-780)Gcc>Tcc		neuregulin 1							239	164	190					8																	32611943		2203	4300	6503	SO:0001583	missense	3084				activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|cardiac muscle cell differentiation|cell communication|cell proliferation|cellular protein complex disassembly|embryo development|mammary gland development|negative regulation of cardiac muscle cell apoptosis|negative regulation of secretion|negative regulation of transcription, DNA-dependent|nervous system development|neural crest cell development|Notch signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of striated muscle cell differentiation|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|transmembrane receptor protein tyrosine kinase signaling pathway|ventricular cardiac muscle cell differentiation|wound healing	apical plasma membrane|extracellular region|extracellular space|integral to membrane|nucleus|plasma membrane	cytokine activity|ErbB-3 class receptor binding|growth factor activity|protein binding|protein tyrosine kinase activator activity|receptor tyrosine kinase binding|transcription cofactor activity|transmembrane receptor protein tyrosine kinase activator activity	g.chr8:32611943G>T	L12261	CCDS6084.1, CCDS6085.1, CCDS6086.1, CCDS6087.1, CCDS47836.1, CCDS55218.1, CCDS55219.1, CCDS75727.1	8p21-p12	2014-06-23			ENSG00000157168	ENSG00000157168		"Immunoglobulin superfamily / I-set domain containing"	7997	protein-coding gene	gene with protein product		142445	"NRG1 intronic transcript 2 (non-protein coding)"	HGL, NRG1-IT2		1350381, 8095334	Standard	NM_013962		Approved	HRG, NDF, GGF	uc003xiu.2	Q02297	OTTHUMG00000163918	ENST00000405005.3:c.754G>T	8.37:g.32611943G>T	ENSP00000384620:p.Ala252Ser					NRG1_ENST00000287840.5_Missense_Mutation_p.A252S|NRG1_ENST00000287845.5_Missense_Mutation_p.A223S|NRG1_ENST00000521670.1_Missense_Mutation_p.A252S|NRG1_ENST00000539990.1_Missense_Mutation_p.A95S|NRG1_ENST00000341377.5_3'UTR|NRG1_ENST00000287842.3_Missense_Mutation_p.A249S|NRG1_ENST00000519301.1_Missense_Mutation_p.A202S|NRG1_ENST00000523079.1_Missense_Mutation_p.A249S|NRG1_ENST00000356819.4_Missense_Mutation_p.A257S|NRG1_ENST00000405005.2_Missense_Mutation_p.A252S	p.A260S			Q02297	NRG1_HUMAN		KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943)	9	1295	+		Breast(100;0.203)	252					A5YAK4|A5YAK5|A8K1L2|B7Z4Z3|E9PHH4|O14667|P98202|Q02298|Q02299|Q07110|Q07111|Q12779|Q12780|Q12781|Q12782|Q12783|Q12784|Q15491|Q7RTV9|Q7RTW0|Q7RTW1|Q7RTW2|Q8NFN1|Q8NFN2|Q8NFN3|Q9UPE3	Missense_Mutation	SNP	ENST00000405005.3	37	c.778G>T	CCDS6085.1	.	.	.	.	.	.	.	.	.	.	G	24.5	4.542760	0.85917	.	.	ENSG00000157168	ENST00000518104;ENST00000519301;ENST00000523534;ENST00000523079;ENST00000338921;ENST00000356819;ENST00000287840;ENST00000287845;ENST00000287842;ENST00000405005;ENST00000521670;ENST00000522402;ENST00000519240;ENST00000539990	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.56444	0.46;0.46;0.46;0.46;0.46;0.46;0.46;0.46;0.46;0.46;0.46;0.46;2.57;0.46	5.47	5.47	0.80525	Neuregulin 1-related, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.70570	0.3239	M	0.61703	1.905	0.80722	D	1	P;D;P;P;P;P;B;P;P;P;P	0.64830	0.934;0.994;0.787;0.66;0.874;0.882;0.277;0.748;0.675;0.847;0.918	P;D;P;B;P;P;B;P;P;P;P	0.66497	0.667;0.944;0.781;0.41;0.678;0.869;0.12;0.55;0.456;0.55;0.794	T	0.72590	-0.4247	10	0.72032	D	0.01	3.7865	19.3324	0.94297	0.0:0.0:1.0:0.0	.	95;98;249;223;257;248;260;249;252;257;252	B7Z1E3;B7Z1D7;E9PHH4;F8W9E3;Q7RTW4;B0FYA9;Q02297-2;Q02297-7;Q02297;Q02297-6;Q02297-3	.;.;.;.;.;.;.;.;NRG1_HUMAN;.;.	S	219;202;325;249;260;257;252;223;249;252;252;98;95;95	ENSP00000430053:A219S;ENSP00000429582:A202S;ENSP00000429067:A325S;ENSP00000430120:A249S;ENSP00000343395:A260S;ENSP00000349275:A257S;ENSP00000287840:A252S;ENSP00000287845:A223S;ENSP00000287842:A249S;ENSP00000384620:A252S;ENSP00000428828:A252S;ENSP00000430862:A98S;ENSP00000428411:A95S;ENSP00000439276:A95S	ENSP00000287840:A252S	A	+	1	0	NRG1	32731485	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	9.869000	0.99810	2.569000	0.86673	0.650000	0.86243	GCC		0.522	NRG1-017	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000472504.1			14	13	1	0	0.0167234	1	0.0169931	14	13					T	32611943	G	T	32611943	3	4	414	1	0	0	0	0	1	0	0	0	10647	1087	38	5	2380	5	NRG1	8	32611943	Missense_Mutation	SNP	G	TCGA-VP-A87B-01A-11D-A34U-08		32611943	113752079	30	20090											
DTX4	23220	broad.mit.edu	37	chr11	58958631	58958631	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaaatatctacagaaagtcCggcacccaccagatgaggtg	16	6	9	10	1	1	3	0	1	1	2	2	3	2	3	3	2	1	1	3	2	5	2			TCGA-VP-A87B-01A-11D-A34U-08	TCGA-VP-A87B-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba2e9eb3-d530-49c4-ae78-d3069862fc71	4d2a435f-5ae8-4a20-be13-cf9208534cd2	g.chr11:58958631C>T	ENST00000227451.3	+	5	1308	c.1204C>T	c.(1204-1206)Cgg>Tgg	p.R402W	DTX4_ENST00000531902.1_3'UTR|DTX4_ENST00000532982.1_Missense_Mutation_p.R296W	NM_015177.1	NP_055992.1	Q9Y2E6	DTX4_HUMAN	deltex 4, E3 ubiquitin ligase	402					innate immune response (GO:0045087)|Notch signaling pathway (GO:0007219)|positive regulation of type I interferon production (GO:0032481)|protein ubiquitination (GO:0016567)|regulation of type I interferon production (GO:0032479)	cytosol (GO:0005829)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	20		all_epithelial(135;0.125)				ACAGAAAGTCCGGCACCCACC	0.493																																						ENST00000227451.3																			0				central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	20						c.(1204-1206)Cgg>Tgg		deltex homolog 4 (Drosophila)							38	37	37					11																	58958631		1889	4095	5984	SO:0001583	missense	23220				Notch signaling pathway	cytoplasm	zinc ion binding	g.chr11:58958631C>T	AB023154	CCDS44612.1	11q12.2	2014-01-28	2014-01-28		ENSG00000110042	ENSG00000110042		"RING-type (C3HC4) zinc fingers"	29151	protein-coding gene	gene with protein product			"deltex 4 homolog (Drosophila)", "deltex homolog 4 (Drosophila)"			10231032, 22388039	Standard	NM_015177		Approved	KIAA0937, RNF155	uc001nns.2	Q9Y2E6	OTTHUMG00000167336	ENST00000227451.3:c.1204C>T	11.37:g.58958631C>T	ENSP00000227451:p.Arg402Trp					DTX4_ENST00000532982.1_Missense_Mutation_p.R296W|DTX4_ENST00000531902.1_3'UTR	p.R402W	NM_015177.1	NP_055992.1	Q9Y2E6	DTX4_HUMAN			5	1308	+		all_epithelial(135;0.125)	402					Q0VF38	Missense_Mutation	SNP	ENST00000227451.3	37	c.1204C>T	CCDS44612.1	.	.	.	.	.	.	.	.	.	.	C	19.41	3.822621	0.71028	.	.	ENSG00000110042	ENST00000532982;ENST00000227451	T;T	0.68479	-0.33;-0.33	5.48	5.48	0.80851	.	0.077747	0.50627	D	0.000107	T	0.74801	0.3764	L	0.47716	1.5	0.50313	D	0.999866	D	0.89917	1.0	D	0.65573	0.936	T	0.76761	-0.2840	10	0.87932	D	0	-15.1084	13.1325	0.59391	0.1602:0.8398:0.0:0.0	.	402	Q9Y2E6	DTX4_HUMAN	W	296;402	ENSP00000434055:R296W;ENSP00000227451:R402W	ENSP00000227451:R402W	R	+	1	2	DTX4	58715207	0.345000	0.24835	1.000000	0.80357	0.967000	0.64934	1.011000	0.29911	2.583000	0.87209	0.563000	0.77884	CGG		0.493	DTX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394228.1	XM_166213		5	2	0	0	0	1	0	5	2					T	58958631	C	T	58958631	3	4	414	1	0	0	0	0	1	0	0	0	4797	643	23	2	1222	2	DTX4	11	58958631	Missense_Mutation	SNP	C	TCGA-VP-A87B-01A-11D-A34U-08		58958631	76047885	31	20091											
PDE2A	5138	broad.mit.edu	37	chr11	72290360	72290360	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tctggaggtccttgaagatgCggagatggtgggccaggtct	7	10	17	7	1	2	3	0	1	2	2	3	5	3	4	2	6	1	0	2	6	1	1			TCGA-VP-A87B-01A-11D-A34U-08	TCGA-VP-A87B-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba2e9eb3-d530-49c4-ae78-d3069862fc71	4d2a435f-5ae8-4a20-be13-cf9208534cd2	g.chr11:72290360C>T	ENST00000334456.5	-	27	2569	c.2324G>A	c.(2323-2325)cGc>cAc	p.R775H	PDE2A_ENST00000540345.1_Missense_Mutation_p.R766H|PDE2A_ENST00000376450.3_Missense_Mutation_p.R519H|PDE2A_ENST00000418754.2_Missense_Mutation_p.R660H|PDE2A_ENST00000544570.1_Missense_Mutation_p.R768H|PDE2A_ENST00000444035.2_Missense_Mutation_p.R766H	NM_002599.4	NP_002590.1	O00408	PDE2A_HUMAN	phosphodiesterase 2A, cGMP-stimulated	775	Catalytic. {ECO:0000250}.				blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cAMP catabolic process (GO:0006198)|cAMP-mediated signaling (GO:0019933)|cellular response to cGMP (GO:0071321)|cellular response to drug (GO:0035690)|cellular response to granulocyte macrophage colony-stimulating factor stimulus (GO:0097011)|cellular response to macrophage colony-stimulating factor stimulus (GO:0036006)|cellular response to mechanical stimulus (GO:0071260)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cGMP catabolic process (GO:0046069)|cGMP-mediated signaling (GO:0019934)|establishment of endothelial barrier (GO:0061028)|metabolic process (GO:0008152)|monocyte differentiation (GO:0030224)|negative regulation of cAMP biosynthetic process (GO:0030818)|negative regulation of protein import into nucleus, translocation (GO:0033159)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of vascular permeability (GO:0043116)|positive regulation of inflammatory response (GO:0050729)|positive regulation of vascular permeability (GO:0043117)|protein targeting to mitochondrion (GO:0006626)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|mitochondrial matrix (GO:0005759)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	calcium channel activity (GO:0005262)|cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity (GO:0004118)|cyclic-nucleotide phosphodiesterase activity (GO:0004112)|drug binding (GO:0008144)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|TPR domain binding (GO:0030911)			breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	36			BRCA - Breast invasive adenocarcinoma(5;3.55e-05)		Caffeine(DB00201)|Tofisopam(DB08811)	CTTGAAGATGCGGAGATGGTG	0.602																																						ENST00000334456.5																			0				breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	36						c.(2323-2325)cGc>cAc		phosphodiesterase 2A, cGMP-stimulated	Sildenafil(DB00203)|Sulindac(DB00605)						102	94	97					11																	72290360		2200	4293	6493	SO:0001583	missense	5138				platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity|metal ion binding	g.chr11:72290360C>T	U67733	CCDS8216.1, CCDS44670.1, CCDS53678.1, CCDS73345.1	11q13.1-q14.1	2008-05-14			ENSG00000186642	ENSG00000186642	3.1.4.17	"Phosphodiesterases"	8777	protein-coding gene	gene with protein product		602658				9210593	Standard	NM_002599		Approved		uc010rrc.2	O00408	OTTHUMG00000102045	ENST00000334456.5:c.2324G>A	11.37:g.72290360C>T	ENSP00000334910:p.Arg775His					PDE2A_ENST00000540345.1_Missense_Mutation_p.R766H|PDE2A_ENST00000418754.2_Missense_Mutation_p.R660H|PDE2A_ENST00000444035.2_Missense_Mutation_p.R766H|PDE2A_ENST00000544570.1_Missense_Mutation_p.R768H|PDE2A_ENST00000376450.3_Missense_Mutation_p.R519H	p.R775H	NM_002599.4	NP_002590.1	O00408	PDE2A_HUMAN	BRCA - Breast invasive adenocarcinoma(5;3.55e-05)		27	2569	-			775			Catalytic (By similarity).		B2R646|B3KRV5|E9PGI1|F6W5Z0|Q5J791|Q5J792|Q5J793|Q6ZMR1	Missense_Mutation	SNP	ENST00000334456.5	37	c.2324G>A	CCDS8216.1	.	.	.	.	.	.	.	.	.	.	C	34	5.346886	0.95807	.	.	ENSG00000186642	ENST00000334456;ENST00000376450;ENST00000444035;ENST00000429363;ENST00000544570;ENST00000418754;ENST00000540345;ENST00000420501;ENST00000441209	T;T;T;T;T;T;T;T	0.76968	-1.06;-1.06;-1.06;-1.06;-1.06;-1.06;-1.06;-1.06	5.37	5.37	0.77165	Metal-dependent phosphohydrolase, HD domain (1);5&apos (2);-cyclic nucleotide phosphodiesterase, catalytic domain (2);3&apos (2);	0.127695	0.53938	D	0.000053	D	0.84844	0.5562	L	0.47716	1.5	0.80722	D	1	D;D;D;D;D;D	0.89917	0.999;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.74674	0.949;0.976;0.982;0.984;0.981;0.982	D	0.86048	0.1524	10	0.72032	D	0.01	.	17.6997	0.88291	0.0:1.0:0.0:0.0	.	660;775;766;768;775;519	E9PEF1;O00408;E9PGI1;F6W5Z0;B2R646;Q6ZMR1	.;PDE2A_HUMAN;.;.;.;.	H	775;519;766;844;768;660;766;154;316	ENSP00000334910:R775H;ENSP00000365633:R519H;ENSP00000411657:R766H;ENSP00000442256:R768H;ENSP00000410310:R660H;ENSP00000446399:R766H;ENSP00000388997:R154H;ENSP00000392457:R316H	ENSP00000334910:R775H	R	-	2	0	PDE2A	71968008	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.600000	0.82769	2.525000	0.85131	0.650000	0.86243	CGC		0.602	PDE2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219839.2	NM_002599		11	58	0	0	0	1	0	11	58					T	72290360	C	T	72290360	3	4	414	1	0	0	0	0	1	0	0	0	11636	768	27	1	521	1	PDE2A	11	72290360	Missense_Mutation	SNP	C	TCGA-VP-A87B-01A-11D-A34U-08	13331729	72290360	62716156	32	20092											
ANKRD49	54851	broad.mit.edu	37	chr11	94231465	94231465	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tggcttctttcttactgcagCatgatgcagatatcaatgcc	9	14	8	10	0	3	2	1	1	2	1	3	2	3	2	1	1	5	4	1	1	3	4			TCGA-VP-A87B-01A-11D-A34U-08	TCGA-VP-A87B-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba2e9eb3-d530-49c4-ae78-d3069862fc71	4d2a435f-5ae8-4a20-be13-cf9208534cd2	g.chr11:94231465C>A	ENST00000544612.1	+	3	984	c.487C>A	c.(487-489)Cat>Aat	p.H163N	ANKRD49_ENST00000302755.4_Missense_Mutation_p.H163N|ANKRD49_ENST00000544253.1_3'UTR|ANKRD49_ENST00000538535.1_3'UTR	NM_017704.2	NP_060174.2	Q8WVL7	ANR49_HUMAN	ankyrin repeat domain 49	163					positive regulation of transcription, DNA-templated (GO:0045893)	nucleus (GO:0005634)				autonomic_ganglia(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|urinary_tract(1)	12		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				CTTACTGCAGCATGATGCAGA	0.512																																					Melanoma(113;823 1621 4352 9582 22033)	ENST00000544612.1																			0				autonomic_ganglia(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|urinary_tract(1)	12						c.(487-489)Cat>Aat		ankyrin repeat domain 49							91	81	84					11																	94231465		2201	4298	6499	SO:0001583	missense	54851				positive regulation of transcription, DNA-dependent			g.chr11:94231465C>A	AF025354	CCDS8300.1	11q21	2013-01-10				ENSG00000168876		"Ankyrin repeat domain containing"	25970	protein-coding gene	gene with protein product						11162141	Standard	NM_017704		Approved	FLJ20189, FGIF, GBIF	uc001pew.3	Q8WVL7		ENST00000544612.1:c.487C>A	11.37:g.94231465C>A	ENSP00000440396:p.His163Asn					ANKRD49_ENST00000302755.4_Missense_Mutation_p.H163N|ANKRD49_ENST00000538535.1_3'UTR|ANKRD49_ENST00000544253.1_3'UTR	p.H163N	NM_017704.2	NP_060174.2	Q8WVL7	ANR49_HUMAN			3	984	+		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)	163					Q8NDF2|Q96JE5|Q9NXK7	Missense_Mutation	SNP	ENST00000544612.1	37	c.487C>A	CCDS8300.1	.	.	.	.	.	.	.	.	.	.	C	13.19	2.162509	0.38217	.	.	ENSG00000168876	ENST00000544612;ENST00000535502;ENST00000302755	T;T;T	0.66460	-0.21;-0.21;-0.21	5.88	5.88	0.94601	Ankyrin repeat-containing domain (4);	0.387236	0.32671	N	0.005792	T	0.58352	0.2116	L	0.27975	0.815	0.49130	D	0.99975	B	0.14012	0.009	B	0.17098	0.017	T	0.49725	-0.8909	10	0.33940	T	0.23	-13.3524	20.2187	0.98312	0.0:1.0:0.0:0.0	.	163	Q8WVL7	ANR49_HUMAN	N	163;122;163	ENSP00000440396:H163N;ENSP00000442449:H122N;ENSP00000303518:H163N	ENSP00000303518:H163N	H	+	1	0	ANKRD49	93871113	1.000000	0.71417	0.996000	0.52242	0.887000	0.51463	3.488000	0.53229	2.780000	0.95670	0.655000	0.94253	CAT		0.512	ANKRD49-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396314.2	NM_017704		17	46	1	0	6.49762e-13	1	7.05776e-13	17	46					A	94231465	C	A	94231465	3	1	414	1	0	0	0	0	1	0	0	0	675	710	25	5	493	5	ANKRD49	11	94231465	Missense_Mutation	SNP	C	TCGA-VP-A87B-01A-11D-A34U-08	21941105	94231465	40775051	33	20093											
RAB39	54734	broad.mit.edu	37	chr11	107832736	107832736	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tagtatttgacattactaacCgacgatcttttgaacatgtg	12	15	7	7	2	1	2	0	2	1	0	1	4	1	2	1	0	3	1	1	0	5	7	rs201681603		TCGA-VP-A87B-01A-11D-A34U-08	TCGA-VP-A87B-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba2e9eb3-d530-49c4-ae78-d3069862fc71	4d2a435f-5ae8-4a20-be13-cf9208534cd2	g.chr11:107832736C>T	ENST00000320578.2	+	2	358	c.292C>T	c.(292-294)Cga>Tga	p.R98*		NM_017516.1	NP_059986.1	Q14964	RB39A_HUMAN	RAB39A, member RAS oncogene family	98					phagosome acidification (GO:0090383)|phagosome-lysosome fusion (GO:0090385)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)										CATTACTAACCGACGATCTTT	0.348																																						ENST00000320578.2																			0											c.(292-294)Cga>Tga		RAB39A, member RAS oncogene family							71	69	70					11																	107832736		2201	4298	6499	SO:0001587	stop_gained	54734				protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding	g.chr11:107832736C>T	X99962	CCDS8338.1	11q22.3	2011-11-22	2011-11-22	2011-11-22	ENSG00000179331	ENSG00000179331		"RAB, member RAS oncogene"	16521	protein-coding gene	gene with protein product	"rab-related GTP-binding protein"		"RAB39, member RAS oncogene family"	RAB39		9119394	Standard	NM_017516		Approved		uc001pjt.3	Q14964	OTTHUMG00000166367	ENST00000320578.2:c.292C>T	11.37:g.107832736C>T	ENSP00000322594:p.Arg98*						p.R98*	NM_017516.1	NP_059986.1	Q14964	RB39A_HUMAN			2	358	+			98					A8KAA4|Q8N6W2	Nonsense_Mutation	SNP	ENST00000320578.2	37	c.292C>T	CCDS8338.1	.	.	.	.	.	.	.	.	.	.	C	25.3	4.627261	0.87560	.	.	ENSG00000179331	ENST00000320578	.	.	.	5.4	4.49	0.54785	.	0.000000	0.49305	D	0.000157	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.863	0.79040	0.1366:0.8634:0.0:0.0	.	.	.	.	X	98	.	ENSP00000322594:R98X	R	+	1	2	RAB39	107337946	1.000000	0.71417	1.000000	0.80357	0.828000	0.46876	5.526000	0.67116	1.512000	0.48834	-0.133000	0.14855	CGA		0.348	RAB39A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389423.1	NM_017516		4	85	0	0	0	1	0	4	85					T	107832736	C	T	107832736	4	4	414	1	0	0	0	0	0	1	0	0	12929	644	23	2	298	2	RAB39	11	107832736	Nonsense_Mutation	SNP	C	TCGA-VP-A87B-01A-11D-A34U-08	13601271	107832736	27173780	34	20094											
WBP11	51729	broad.mit.edu	37	chr12	14940329	14940329	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ttgggtggggcacttaaaacCccagggtttggcaagggagc	9	8	16	8	0	0	0	0	0	0	0	0	1	0	1	2	6	2	3	2	6	3	3			TCGA-VP-A87B-01A-11D-A34U-08	TCGA-VP-A87B-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba2e9eb3-d530-49c4-ae78-d3069862fc71	4d2a435f-5ae8-4a20-be13-cf9208534cd2	g.chr12:14940329C>A	ENST00000261167.2	-	12	1829	c.1596G>T	c.(1594-1596)ggG>ggT	p.G532G		NM_016312.2	NP_057396.1	Q9Y2W2	WBP11_HUMAN	WW domain binding protein 11	532	Pro-rich.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)|rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|protein phosphatase type 1 regulator activity (GO:0008599)|single-stranded DNA binding (GO:0003697)|WW domain binding (GO:0050699)			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)	30						CACTTAAAACCCCAGGGTTTG	0.592																																						ENST00000261167.2																			0				endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)	30						c.(1594-1596)ggG>ggT		WW domain binding protein 11							145	153	150					12																	14940329		2203	4300	6503	SO:0001819	synonymous_variant	51729				mRNA processing|RNA splicing|rRNA processing	cytoplasm	single-stranded DNA binding|WW domain binding	g.chr12:14940329C>A	AB029309	CCDS8666.1	12p12.3	2014-06-13			ENSG00000084463	ENSG00000084463			16461	protein-coding gene	gene with protein product	"splicing factor, PQBP1 and PP1 interacting", "protein phosphatase 1, regulatory subunit 165"					10593949	Standard	NM_016312		Approved	NPWBP, SIPP1, PPP1R165	uc001rci.3	Q9Y2W2	OTTHUMG00000168737	ENST00000261167.2:c.1596G>T	12.37:g.14940329C>A						WBP11_ENST00000537574.1_Silent_p.G498G	p.G532G	NM_016312.2	NP_057396.1	Q9Y2W2	WBP11_HUMAN			12	1829	-			532			Pro-rich.		Q96AY8	Silent	SNP	ENST00000261167.2	37	c.1596G>T	CCDS8666.1																																																																																				0.592	WBP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400850.1	NM_016312		129	156	1	0	1.49705e-65	1	1.74655e-65	129	156					A	14940329	C	A	14940329	2	1	414	1	0	0	0	0	0	0	0	1	17255	610	22	5		5	WBP11	12	14940329	Silent	SNP	C	TCGA-VP-A87B-01A-11D-A34U-08		14940329	118911566	35	20095											
ART4	420	broad.mit.edu	37	chr12	14993733	14993733	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtctttcctcagcagctggaTtgctgaggtgaggtagtagt	7	13	14	7	0	2	2	1	2	1	0	3	3	3	3	1	3	3	5	1	3	2	4			TCGA-VP-A87B-01A-11D-A34U-08	TCGA-VP-A87B-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba2e9eb3-d530-49c4-ae78-d3069862fc71	4d2a435f-5ae8-4a20-be13-cf9208534cd2	g.chr12:14993733T>C	ENST00000228936.4	-	2	880	c.499A>G	c.(499-501)Atc>Gtc	p.I167V	C12orf60_ENST00000527783.1_Intron|RP11-233G1.4_ENST00000444324.2_RNA	NM_021071.2	NP_066549.2	Q93070	NAR4_HUMAN	ADP-ribosyltransferase 4 (Dombrock blood group)	167					arginine metabolic process (GO:0006525)|protein ADP-ribosylation (GO:0006471)	anchored component of membrane (GO:0031225)|membrane (GO:0016020)|plasma membrane (GO:0005886)	NAD(P)+-protein-arginine ADP-ribosyltransferase activity (GO:0003956)			large_intestine(5)|liver(1)|lung(3)|prostate(1)|skin(2)|stomach(3)	15						AGCAGCTGGATTGCTGAGGTG	0.473																																						ENST00000228936.4																			0				large_intestine(5)|liver(1)|lung(3)|prostate(1)|skin(2)|stomach(3)	15						c.(499-501)Atc>Gtc		ADP-ribosyltransferase 4							108	104	105					12																	14993733		2203	4300	6503	SO:0001583	missense	420				arginine metabolic process|protein ADP-ribosylation	anchored to membrane|plasma membrane	NAD(P)+-protein-arginine ADP-ribosyltransferase activity	g.chr12:14993733T>C	X95826	CCDS8668.1	12q13.2-q13.3	2014-07-18	2014-01-02	2006-01-12	ENSG00000111339	ENSG00000111339		"CD molecules", "Blood group antigens"	726	protein-coding gene	gene with protein product		110600	"Dombrock blood group", "ADP-ribosyltransferase 4 (DO blood group)", "ADP-ribosyltransferase 4"	DO		9119374	Standard	NM_021071		Approved	DOK1, CD297	uc001rcl.1	Q93070	OTTHUMG00000168738	ENST00000228936.4:c.499A>G	12.37:g.14993733T>C	ENSP00000228936:p.Ile167Val					C12orf60_ENST00000527783.1_Intron	p.I167V	NM_021071.2	NP_066549.2	Q93070	NAR4_HUMAN			2	880	-			167					Q9BZ50|Q9BZ51|Q9HB06	Missense_Mutation	SNP	ENST00000228936.4	37	c.499A>G	CCDS8668.1	.	.	.	.	.	.	.	.	.	.	T	3.599	-0.081978	0.07141	.	.	ENSG00000111339	ENST00000228936;ENST00000420600	T;T	0.07908	3.15;3.15	4.22	-1.14	0.09741	.	0.313774	0.34110	N	0.004244	T	0.05135	0.0137	L	0.28740	0.885	0.21105	N	0.999784	B;B	0.13145	0.007;0.007	B;B	0.18561	0.022;0.022	T	0.31364	-0.9946	10	0.37606	T	0.19	-4.0294	5.4367	0.16486	0.0:0.2435:0.2533:0.5032	.	167;167	A8K6J7;Q93070	.;NAR4_HUMAN	V	167;150	ENSP00000228936:I167V;ENSP00000405689:I150V	ENSP00000228936:I167V	I	-	1	0	ART4	14885000	0.023000	0.18921	0.851000	0.33527	0.335000	0.28730	-0.277000	0.08502	-0.480000	0.06803	-1.777000	0.00654	ATC		0.473	ART4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400859.1	NM_021071		29	56	0	0	0	1	0	29	56					C	14993733	T	C	14993733	3	2	414	1	0	0	0	0	1	0	0	0	999	1493	52	4	453	4	ART4	12	14993733	Missense_Mutation	SNP	T	TCGA-VP-A87B-01A-11D-A34U-08	53404	14993733	118858162	36	20096											
OR10P1	121130	broad.mit.edu	37	chr12	56031259	56031259	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggcaagtgctgggaagcacaGgagcgagatctccgtgatga	11	6	16	8	2	1	3	0	2	1	1	2	6	1	5	1	3	3	3	1	3	2	0	rs374333859		TCGA-VP-A87B-01A-11D-A34U-08	TCGA-VP-A87B-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba2e9eb3-d530-49c4-ae78-d3069862fc71	4d2a435f-5ae8-4a20-be13-cf9208534cd2	g.chr12:56031259G>A	ENST00000309675.2	+	1	616	c.584G>A	c.(583-585)aGg>aAg	p.R195K	RP11-644F5.16_ENST00000556606.1_RNA	NM_206899.1	NP_996782.1	Q8NGE3	O10P1_HUMAN	olfactory receptor, family 10, subfamily P, member 1	195						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(4)|large_intestine(3)|lung(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	26						GGGAAGCACAGGAGCGAGATC	0.532																																						ENST00000309675.2																			0				autonomic_ganglia(1)|central_nervous_system(2)|endometrium(4)|large_intestine(3)|lung(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	26						c.(583-585)aGg>aAg		olfactory receptor, family 10, subfamily P, member 1		G	LYS/ARG	0,4406		0,0,2203	120	93	102		584	-2	0	12		102	1,8599	1.2+/-3.3	0,1,4299	no	missense	OR10P1	NM_206899.1	26	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	195/314	56031259	1,13005	2203	4300	6503	SO:0001583	missense	121130				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr12:56031259G>A	BK004259	CCDS31828.1	12q13.13	2012-08-09		2004-03-10		ENSG00000175398		"GPCR / Class A : Olfactory receptors"	15378	protein-coding gene	gene with protein product				OR10P1P, OR10P2P, OR10P3P			Standard	NM_206899		Approved	OST701	uc010spq.2	Q8NGE3	OTTHUMG00000169961	ENST00000309675.2:c.584G>A	12.37:g.56031259G>A	ENSP00000308082:p.Arg195Lys						p.R195K	NM_206899.1	NP_996782.1	Q8NGE3	O10P1_HUMAN			1	616	+			195					B9EGY4	Missense_Mutation	SNP	ENST00000309675.2	37	c.584G>A	CCDS31828.1	.	.	.	.	.	.	.	.	.	.	G	0.962	-0.702873	0.03255	0.0	1.16E-4	ENSG00000175398	ENST00000309675	T	0.00084	8.75	4.44	-2.05	0.07321	GPCR, rhodopsin-like superfamily (1);	0.521251	0.17730	N	0.163921	T	0.00073	0.0002	N	0.05554	-0.025	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.20974	-1.0259	10	0.40728	T	0.16	.	3.2501	0.06811	0.3424:0.0:0.3642:0.2934	.	195	Q8NGE3	O10P1_HUMAN	K	195	ENSP00000308082:R195K	ENSP00000308082:R195K	R	+	2	0	OR10P1	54317526	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-2.172000	0.01266	-0.542000	0.06249	-1.108000	0.02087	AGG		0.532	OR10P1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406680.1			28	60	0	0	0	1	0	28	60					A	56031259	G	A	56031259	3	1	414	1	0	0	0	0	1	0	0	0	10915	1000	35	3	586	3	OR10P1	12	56031259	Missense_Mutation	SNP	G	TCGA-VP-A87B-01A-11D-A34U-08	41037526	56031259	77820636	37	20097											
TBC1D4	9882	broad.mit.edu	37	chr13	76055681	76055681	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctcgggccgccggcgcccCgcagccgcccgcctcgggct	1	4	14	22	8	1	0	0	0	1	0	3	0	1	0	7	3	1	2	7	3	0	0			TCGA-VP-A87B-01A-11D-A34U-08	TCGA-VP-A87B-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba2e9eb3-d530-49c4-ae78-d3069862fc71	4d2a435f-5ae8-4a20-be13-cf9208534cd2	g.chr13:76055681C>T	ENST00000377636.3	-	1	569	c.223G>A	c.(223-225)Ggg>Agg	p.G75R	TBC1D4_ENST00000425511.1_5'UTR|TBC1D4_ENST00000431480.2_Missense_Mutation_p.G75R|TBC1D4_ENST00000377625.2_Missense_Mutation_p.G75R	NM_014832.2	NP_055647.2	O60343	TBCD4_HUMAN	TBC1 domain family, member 4	75	PID 1. {ECO:0000255|PROSITE- ProRule:PRU00148}.				cellular response to insulin stimulus (GO:0032869)|membrane organization (GO:0061024)|negative regulation of vesicle fusion (GO:0031339)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|extracellular vesicular exosome (GO:0070062)	Rab GTPase activator activity (GO:0005097)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(12)|lung(18)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Prostate(6;0.014)|Breast(118;0.0982)		GBM - Glioblastoma multiforme(99;0.0116)		gccggcgccccgcagccgccc	0.751																																						ENST00000377636.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(12)|lung(18)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						c.(223-225)Ggg>Agg		TBC1 domain family, member 4							7	9	8					13																	76055681		1756	3921	5677	SO:0001583	missense	9882					cytoplasm	Rab GTPase activator activity	g.chr13:76055681C>T	AB011175	CCDS41901.1, CCDS66563.1, CCDS66564.1	13q22.2	2013-07-09			ENSG00000136111	ENSG00000136111			19165	protein-coding gene	gene with protein product	"Akt substrate of 160 kDa"	612465				11829485, 11994271, 15304337	Standard	XM_005266603		Approved	KIAA0603, AS160, DKFZp779C0666	uc001vjl.1	O60343	OTTHUMG00000017088	ENST00000377636.3:c.223G>A	13.37:g.76055681C>T	ENSP00000366863:p.Gly75Arg					TBC1D4_ENST00000431480.2_Missense_Mutation_p.G75R|TBC1D4_ENST00000425511.1_5'UTR|TBC1D4_ENST00000377625.2_Missense_Mutation_p.G75R	p.G75R	NM_014832.2	NP_055647.2	O60343	TBCD4_HUMAN		GBM - Glioblastoma multiforme(99;0.0116)	1	569	-		Prostate(6;0.014)|Breast(118;0.0982)	75			PID 1.		A7E2X8|B4DU25|B4E235|B6ETN8|B6ETN9|Q5W0B9|Q68D14	Missense_Mutation	SNP	ENST00000377636.3	37	c.223G>A	CCDS41901.1	.	.	.	.	.	.	.	.	.	.	C	16.87	3.242527	0.58995	.	.	ENSG00000136111	ENST00000377636;ENST00000431480;ENST00000377625	T;T;T	0.28895	1.59;1.59;1.59	3.95	3.08	0.35506	Phosphotyrosine interaction domain (1);Pleckstrin homology-type (1);	0.294024	0.23422	N	0.048358	T	0.27765	0.0683	N	0.22421	0.69	0.80722	D	1	B;D;D	0.63046	0.242;0.992;0.971	B;P;B	0.51701	0.019;0.677;0.375	T	0.01874	-1.1256	10	0.30078	T	0.28	-10.1874	11.843	0.52366	0.0:0.9114:0.0:0.0886	.	75;75;75	O60343-2;O60343-3;O60343	.;.;TBCD4_HUMAN	R	75	ENSP00000366863:G75R;ENSP00000395986:G75R;ENSP00000366852:G75R	ENSP00000366852:G75R	G	-	1	0	TBC1D4	74953682	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	1.101000	0.31037	2.017000	0.59298	0.561000	0.74099	GGG		0.751	TBC1D4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045283.1	NM_014832		10	0	0	0	0	1	0	10	0					T	76055681	C	T	76055681	3	4	414	1	0	0	0	0	1	0	0	0	15619	652	23	2	3757	2	TBC1D4	13	76055681	Missense_Mutation	SNP	C	TCGA-VP-A87B-01A-11D-A34U-08		76055681	39114197	38	20098											
HAUS4	54930	broad.mit.edu	37	chr14	23417142	23417142	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cttctgctggctcttggcatCctggcactgctgctgctcac	3	13	10	15	0	3	0	1	0	2	0	4	0	4	0	1	3	4	7	1	3	0	2			TCGA-VP-A87B-01A-11D-A34U-08	TCGA-VP-A87B-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba2e9eb3-d530-49c4-ae78-d3069862fc71	4d2a435f-5ae8-4a20-be13-cf9208534cd2	g.chr14:23417142C>A	ENST00000206474.7	-	7	895	c.643G>T	c.(643-645)Gat>Tat	p.D215Y	HAUS4_ENST00000397409.4_Intron|HAUS4_ENST00000555367.1_Missense_Mutation_p.D170Y|HAUS4_ENST00000342454.8_Missense_Mutation_p.D170Y|RP11-298I3.1_ENST00000548322.1_RNA|HAUS4_ENST00000541587.1_Missense_Mutation_p.D215Y|RP11-298I3.5_ENST00000555074.1_Missense_Mutation_p.G44V|HAUS4_ENST00000554446.1_Intron|HAUS4_ENST00000347758.2_Intron|RP11-298I3.1_ENST00000548819.1_RNA|HAUS4_ENST00000490506.1_Missense_Mutation_p.D91Y|HAUS4_ENST00000555986.1_Missense_Mutation_p.D170Y			Q9H6D7	HAUS4_HUMAN	HAUS augmin-like complex, subunit 4	215					centrosome organization (GO:0051297)|mitotic nuclear division (GO:0007067)|spindle assembly (GO:0051225)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|HAUS complex (GO:0070652)|microtubule (GO:0005874)				breast(3)|cervix(1)|endometrium(2)|lung(6)|ovary(1)|skin(1)	14						CTCTTGGCATCCTGGCACTGC	0.552																																						ENST00000206474.7																			0				breast(3)|cervix(1)|endometrium(2)|lung(6)|ovary(1)|skin(1)	14						c.(643-645)Gat>Tat		HAUS augmin-like complex, subunit 4							87	72	77					14																	23417142		2203	4300	6503	SO:0001583	missense	54930				cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|spindle		g.chr14:23417142C>A	AK000431	CCDS9580.1, CCDS53886.1	14q11.1	2011-10-24	2009-04-20	2009-04-20	ENSG00000092036	ENSG00000092036		"HAUS augmin-like complex subunits"	20163	protein-coding gene	gene with protein product		613431	"chromosome 14 open reading frame 94"	C14orf94		19427217	Standard	NM_017815		Approved	FLJ20424	uc001wht.3	Q9H6D7	OTTHUMG00000028710	ENST00000206474.7:c.643G>T	14.37:g.23417142C>A	ENSP00000206474:p.Asp215Tyr					RP11-298I3.1_ENST00000548322.1_RNA|RP11-298I3.1_ENST00000548819.1_RNA|HAUS4_ENST00000490506.1_Missense_Mutation_p.D91Y|HAUS4_ENST00000555986.1_Missense_Mutation_p.D170Y|HAUS4_ENST00000541587.1_Missense_Mutation_p.D215Y|HAUS4_ENST00000555367.1_Missense_Mutation_p.D170Y|HAUS4_ENST00000397409.4_Intron|RP11-298I3.5_ENST00000555074.1_Missense_Mutation_p.G44V|HAUS4_ENST00000347758.2_Intron|HAUS4_ENST00000554446.1_Intron|HAUS4_ENST00000342454.8_Missense_Mutation_p.D170Y	p.D215Y			Q9H6D7	HAUS4_HUMAN			7	895	-			215					B7WP17|D3DS34|Q86T15|Q86T16|Q86U43|Q9NX59	Missense_Mutation	SNP	ENST00000206474.7	37	c.643G>T	CCDS9580.1	.	.	.	.	.	.	.	.	.	.	C	18.93	3.726893	0.69074	.	.	ENSG00000092036	ENST00000206474;ENST00000490506;ENST00000541587;ENST00000342454;ENST00000555367;ENST00000555986;ENST00000555040	.	.	.	5.24	4.34	0.51931	.	0.247908	0.47455	D	0.000236	T	0.42698	0.1214	N	0.22421	0.69	0.80722	D	1	P;P	0.52692	0.891;0.955	B;P	0.47251	0.444;0.542	T	0.37753	-0.9692	9	0.52906	T	0.07	-3.5026	10.3007	0.43650	0.0:0.9052:0.0:0.0948	.	170;215	Q9H6D7-4;Q9H6D7	.;HAUS4_HUMAN	Y	215;91;215;170;170;170;215	.	ENSP00000206474:D215Y	D	-	1	0	HAUS4	22486982	0.871000	0.30034	1.000000	0.80357	0.995000	0.86356	1.011000	0.29911	2.456000	0.83038	0.585000	0.79938	GAT		0.552	HAUS4-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071680.3			27	38	1	0	9.80776e-20	1	1.10337e-19	27	38					A	23417142	C	A	23417142	3	1	414	1	0	0	0	0	1	0	0	0	6968	855	30	5	464	5	HAUS4	14	23417142	Missense_Mutation	SNP	C	TCGA-VP-A87B-01A-11D-A34U-08		23417142	83932398	39	20099											
SLC28A2	9153	broad.mit.edu	37	chr15	45555257	45555257	+	Splice_Site	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	actctgcttcttctctttttAgcctatgctgcctatctcct	4	19	4	14	0	4	0	0	0	4	0	6	0	4	0	3	0	4	2	3	0	3	7			TCGA-VP-A87B-01A-11D-A34U-08	TCGA-VP-A87B-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba2e9eb3-d530-49c4-ae78-d3069862fc71	4d2a435f-5ae8-4a20-be13-cf9208534cd2	g.chr15:45555257A>T	ENST00000347644.3	+	5	327		c.e5-1		CTD-2651B20.3_ENST00000560344.1_RNA|CTD-2651B20.3_ENST00000561404.1_RNA	NM_004212.3	NP_004203.2	O43868	S28A2_HUMAN	solute carrier family 28 (concentrative nucleoside transporter), member 2						nucleobase-containing compound metabolic process (GO:0006139)|purine nucleoside transmembrane transport (GO:0015860)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	nucleoside binding (GO:0001882)|nucleoside:sodium symporter activity (GO:0005415)|purine nucleoside transmembrane transporter activity (GO:0015211)			NS(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(4)|skin(1)	26		all_cancers(109;8.53e-07)|all_epithelial(112;1.39e-05)|Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417)		all cancers(107;3.77e-16)|GBM - Glioblastoma multiforme(94;2.71e-06)	Mercaptopurine(DB01033)	TTCTCTTTTTAGCCTATGCTG	0.473																																					NSCLC(92;493 1501 26361 28917 47116)	ENST00000347644.3																			0				NS(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(4)|skin(1)	26						c.e5-1		solute carrier family 28 (concentrative nucleoside transporter), member 2							98	87	90					15																	45555257		2198	4298	6496	SO:0001630	splice_region_variant	9153				nucleobase, nucleoside and nucleotide metabolic process	integral to plasma membrane|membrane fraction	nucleoside binding|nucleoside:sodium symporter activity|purine nucleoside transmembrane transporter activity	g.chr15:45555257A>T	U84392	CCDS10121.1	15q15	2013-07-17	2013-07-17		ENSG00000137860	ENSG00000137860		"Solute carriers"	11002	protein-coding gene	gene with protein product		606208	"solute carrier family 28 (sodium-coupled nucleoside transporter), member 2"			9435697	Standard	NM_004212		Approved	CNT2, SPNT1, HCNT2, HsT17153	uc001zva.2	O43868	OTTHUMG00000131426	ENST00000347644.3:c.263-1A>T	15.37:g.45555257A>T						CTD-2651B20.3_ENST00000561404.1_RNA|CTD-2651B20.3_ENST00000560344.1_RNA		NM_004212.3	NP_004203.2	O43868	S28A2_HUMAN		all cancers(107;3.77e-16)|GBM - Glioblastoma multiforme(94;2.71e-06)	5	327	+		all_cancers(109;8.53e-07)|all_epithelial(112;1.39e-05)|Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417)						A8K7F9|O43239|Q52LZ0	Splice_Site	SNP	ENST00000347644.3	37		CCDS10121.1	.	.	.	.	.	.	.	.	.	.	A	18.76	3.692461	0.68271	.	.	ENSG00000137860	ENST00000347644	.	.	.	5.82	5.82	0.92795	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.1486	0.65367	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SLC28A2	43342549	1.000000	0.71417	0.995000	0.50966	0.967000	0.64934	7.835000	0.86780	2.232000	0.73038	0.528000	0.53228	.		0.473	SLC28A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254219.2	NM_004212	Intron	13	52	0	0	0	1	0	13	52					T	45555257	A	T	45555257	5	4	414	1	0	0	0	0	0	0	1	0	14532	434	15	5	275	5	SLC28A2	15	45555257	Splice_Site	SNP	A	TCGA-VP-A87B-01A-11D-A34U-08		45555257	56976135	40	20100											
CNOT1	23019	broad.mit.edu	37	chr16	58633154	58633154	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acttacatgctgtatttcctGctggctggctcggtaatttt	6	17	9	9	1	0	0	0	0	0	0	2	0	1	0	1	3	3	6	1	3	3	6			TCGA-VP-A87B-01A-11D-A34U-08	TCGA-VP-A87B-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba2e9eb3-d530-49c4-ae78-d3069862fc71	4d2a435f-5ae8-4a20-be13-cf9208534cd2	g.chr16:58633154G>A	ENST00000317147.5	-	2	420	c.88C>T	c.(88-90)Cag>Tag	p.Q30*	CNOT1_ENST00000569240.1_Nonsense_Mutation_p.Q30*|CNOT1_ENST00000441024.2_Nonsense_Mutation_p.Q30*	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1	30					gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of cytoplasmic mRNA processing body assembly (GO:0010606)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|regulation of stem cell maintenance (GO:2000036)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|transcription, DNA-templated (GO:0006351)|trophectodermal cell differentiation (GO:0001829)	CCR4-NOT complex (GO:0030014)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|extracellular space (GO:0005615)|membrane (GO:0016020)|nucleus (GO:0005634)|peroxisomal membrane (GO:0005778)	estrogen receptor binding (GO:0030331)|poly(A) RNA binding (GO:0044822)|retinoic acid receptor binding (GO:0042974)			breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		TGTATTTCCTGCTGGCTGGCT	0.448																																						ENST00000317147.5																			0				breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87						c.(88-90)Cag>Tag		CCR4-NOT transcription complex, subunit 1							114	102	107					16																	58633154		2198	4300	6498	SO:0001587	stop_gained	23019				nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol		g.chr16:58633154G>A	AL833549	CCDS10799.1, CCDS45501.1, CCDS58468.1	16q21	2008-02-05			ENSG00000125107	ENSG00000125107			7877	protein-coding gene	gene with protein product		604917		NOT1		14702039	Standard	NM_016284		Approved	CDC39, NOT1H, KIAA1007, AD-005	uc002env.4	A5YKK6	OTTHUMG00000133487	ENST00000317147.5:c.88C>T	16.37:g.58633154G>A	ENSP00000320949:p.Gln30*					CNOT1_ENST00000569240.1_Nonsense_Mutation_p.Q30*|CNOT1_ENST00000441024.2_Nonsense_Mutation_p.Q30*	p.Q30*	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN		Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)	2	420	-			30					Q68DX7|Q7Z3K2|Q8IWB8|Q8TB53|Q9BVZ6|Q9UFR8|Q9UI27|Q9Y2L0	Nonsense_Mutation	SNP	ENST00000317147.5	37	c.88C>T	CCDS10799.1	.	.	.	.	.	.	.	.	.	.	G	36	5.619333	0.96649	.	.	ENSG00000125107	ENST00000317147;ENST00000394200;ENST00000441024	.	.	.	5.01	5.01	0.66863	.	0.128450	0.53938	D	0.000055	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-11.8142	18.6815	0.91547	0.0:0.0:1.0:0.0	.	.	.	.	X	30	.	.	Q	-	1	0	CNOT1	57190655	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.752000	0.98900	2.476000	0.83614	0.557000	0.71058	CAG		0.448	CNOT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257385.3	NM_016284		6	99	0	0	0	1	0	6	99					A	58633154	G	A	58633154	4	1	414	1	0	0	0	0	0	1	0	0	3617	1328	46	3	7456	3	CNOT1	16	58633154	Nonsense_Mutation	SNP	G	TCGA-VP-A87B-01A-11D-A34U-08		58633154	31721599	41	20101											
EXOC3L	283849	broad.mit.edu	37	chr16	67220718	67220718	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gccagacgggtctgtgttggGcccatgctcccggccccact	4	8	13	16	2	1	1	0	0	1	1	2	1	2	1	5	3	1	2	5	3	0	1			TCGA-VP-A87B-01A-11D-A34U-08	TCGA-VP-A87B-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba2e9eb3-d530-49c4-ae78-d3069862fc71	4d2a435f-5ae8-4a20-be13-cf9208534cd2	g.chr16:67220718G>A	ENST00000314586.6	-	7	1468	c.1228C>T	c.(1228-1230)Ccc>Tcc	p.P410S	KIAA0895L_ENST00000563902.1_5'Flank|KIAA0895L_ENST00000290881.7_5'Flank|KIAA0895L_ENST00000561621.1_5'Flank|EXOC3L1_ENST00000562887.1_5'Flank	NM_178516.3	NP_848611.2	Q86VI1	EX3L1_HUMAN	exocyst complex component 3-like 1	410					exocytosis (GO:0006887)|peptide hormone secretion (GO:0030072)	exocyst (GO:0000145)|secretory granule (GO:0030141)				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	21						TCTGTGTTGGGCCCATGCTCC	0.622																																						ENST00000314586.6																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	21						c.(1228-1230)Ccc>Tcc		exocyst complex component 3-like 1							65	66	66					16																	67220718		2198	4300	6498	SO:0001583	missense	283849				exocytosis|peptide hormone secretion	exocyst|stored secretory granule|transport vesicle		g.chr16:67220718G>A	AK092858	CCDS10832.1	16q22.1	2011-01-31	2011-01-31	2011-01-31	ENSG00000179044	ENSG00000179044			27540	protein-coding gene	gene with protein product		614117	"exocyst complex component 3-like"	EXOC3L		12477932	Standard	NM_178516		Approved	FLJ35539, FLJ35587	uc002erx.1	Q86VI1	OTTHUMG00000137508	ENST00000314586.6:c.1228C>T	16.37:g.67220718G>A	ENSP00000325674:p.Pro410Ser						p.P410S	NM_178516.3	NP_848611.2	Q86VI1	EX3L1_HUMAN			7	1468	-			410					A8K7I9|Q8NAD2|Q8TEN2	Missense_Mutation	SNP	ENST00000314586.6	37	c.1228C>T	CCDS10832.1	.	.	.	.	.	.	.	.	.	.	G	17.86	3.491733	0.64074	.	.	ENSG00000179044	ENST00000314586	T	0.13657	2.57	5.15	5.15	0.70609	.	0.000000	0.85682	D	0.000000	T	0.39572	0.1083	M	0.74881	2.28	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.23297	-1.0192	10	0.66056	D	0.02	-15.3742	17.2668	0.87089	0.0:0.0:1.0:0.0	.	410	Q86VI1	EX3L1_HUMAN	S	410	ENSP00000325674:P410S	ENSP00000325674:P410S	P	-	1	0	EXOC3L1	65778219	1.000000	0.71417	1.000000	0.80357	0.275000	0.26752	7.524000	0.81866	2.428000	0.82296	0.449000	0.29647	CCC		0.622	EXOC3L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268827.2	NM_178516		36	51	0	0	0	1	0	36	51					A	67220718	G	A	67220718	3	1	414	1	0	0	0	0	1	0	0	0	5304	1203	42	3	1044	3	EXOC3L	16	67220718	Missense_Mutation	SNP	G	TCGA-VP-A87B-01A-11D-A34U-08	8587564	67220718	23134035	42	20102											
HPR	3250	broad.mit.edu	37	chr16	72108237	72108237	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tggctatgtggagcacttgtTtcgctaccagtgtaagaact	9	13	11	8	1	0	1	0	0	0	1	1	2	0	2	1	2	3	5	1	2	4	5			TCGA-VP-A87B-01A-11D-A34U-08	TCGA-VP-A87B-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba2e9eb3-d530-49c4-ae78-d3069862fc71	4d2a435f-5ae8-4a20-be13-cf9208534cd2	g.chr16:72108237T>C	ENST00000540303.2	+	3	178	c.146T>C	c.(145-147)tTt>tCt	p.F49S	HPR_ENST00000356967.5_Missense_Mutation_p.F49S|HPR_ENST00000561690.1_Missense_Mutation_p.F49S|HPR_ENST00000228226.8_Missense_Mutation_p.F86S	NM_020995.3	NP_066275.3	P00739	HPTR_HUMAN	haptoglobin-related protein	49	Sushi.					blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|spherical high-density lipoprotein particle (GO:0034366)	hemoglobin binding (GO:0030492)|serine-type endopeptidase activity (GO:0004252)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|stomach(1)|urinary_tract(2)	20		Ovarian(137;0.125)				GAGCACTTGTTTCGCTACCAG	0.483																																						ENST00000540303.2																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|stomach(1)|urinary_tract(2)	20						c.(145-147)tTt>tCt		haptoglobin-related protein							221	136	163					16																	72108237		1966	4141	6107	SO:0001583	missense	3250				proteolysis	spherical high-density lipoprotein particle	hemoglobin binding|serine-type endopeptidase activity	g.chr16:72108237T>C	BC160066	CCDS42193.1	16q22.2	2012-10-03			ENSG00000261701	ENSG00000261701			5156	protein-coding gene	gene with protein product		140210				2987228, 16778136	Standard	NM_020995		Approved		uc002fby.3	P00739	OTTHUMG00000173010	ENST00000540303.2:c.146T>C	16.37:g.72108237T>C	ENSP00000441828:p.Phe49Ser					HPR_ENST00000228226.8_Missense_Mutation_p.F86S|HPR_ENST00000561690.1_Missense_Mutation_p.F49S|HPR_ENST00000356967.5_Missense_Mutation_p.F49S	p.F49S	NM_020995.3	NP_066275.3	P00739	HPTR_HUMAN			3	178	+		Ovarian(137;0.125)	49			Sushi.		Q7LE20|Q92658|Q92659|Q9ULB0	Missense_Mutation	SNP	ENST00000540303.2	37	c.146T>C	CCDS42193.1	.	.	.	.	.	.	.	.	.	.	T	6.380	0.438175	0.12104	.	.	ENSG00000257017	ENST00000356967;ENST00000540303;ENST00000228226	T;T;T	0.48836	0.8;0.8;0.8	2.4	2.4	0.29515	Complement control module (2);	0.573140	0.16325	N	0.219367	T	0.27933	0.0688	N	0.14661	0.345	0.09310	N	1	B	0.19445	0.036	B	0.19148	0.024	T	0.21143	-1.0254	10	0.87932	D	0	.	6.5813	0.22596	0.0:0.0:0.0:1.0	.	49	P00739	HPTR_HUMAN	S	49;49;86	ENSP00000349451:F49S;ENSP00000441828:F49S;ENSP00000228226:F86S	ENSP00000228226:F86S	F	+	2	0	HP	70665738	0.358000	0.24947	0.020000	0.16555	0.007000	0.05969	3.300000	0.51834	1.087000	0.41251	0.172000	0.16884	TTT		0.483	HPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421696.1	NM_020995		31	33	0	0	0	1	0	31	33					C	72108237	T	C	72108237	3	2	414	1	0	0	0	0	1	0	0	0	7337	1841	64	4	156	4	HPR	16	72108237	Missense_Mutation	SNP	T	TCGA-VP-A87B-01A-11D-A34U-08	4887519	72108237	18246516	43	20103											
TRIM16L	147166	broad.mit.edu	37	chr17	18638255	18638255	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tccggctgcaggaggagaacCgcaaggtcaccaacaccacg	12	3	12	14	3	1	1	1	0	0	1	2	3	2	2	4	4	3	3	4	4	3	0			TCGA-VP-A87B-01A-11D-A34U-08	TCGA-VP-A87B-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba2e9eb3-d530-49c4-ae78-d3069862fc71	4d2a435f-5ae8-4a20-be13-cf9208534cd2	g.chr17:18638255C>T	ENST00000449552.2	+	7	2013	c.529C>T	c.(529-531)Cgc>Tgc	p.R177C	TRIM16L_ENST00000571708.1_Missense_Mutation_p.R177C|TRIM16L_ENST00000395672.2_Missense_Mutation_p.R177C|TRIM16L_ENST00000572555.1_Missense_Mutation_p.R177C|TRIM16L_ENST00000395671.4_Missense_Mutation_p.R177C|TRIM16L_ENST00000414850.2_Silent_p.T89T|TRIM16L_ENST00000395902.3_Missense_Mutation_p.R231C			Q309B1	TR16L_HUMAN	tripartite motif containing 16-like	177	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.					cytoplasm (GO:0005737)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)	9						GGAGGAGAACCGCAAGGTCAC	0.607																																						ENST00000449552.2																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)	9						c.(529-531)Cgc>Tgc		tripartite motif containing 16-like							47	42	44					17																	18638255		2203	4298	6501	SO:0001583	missense	147166					cytoplasm		g.chr17:18638255C>T	DQ232882	CCDS32588.1	17p11.2	2011-02-10	2011-01-25		ENSG00000108448	ENSG00000108448			32670	protein-coding gene	gene with protein product			"tripartite motif-containing 16-like"				Standard	XM_005256479		Approved	TRIM70	uc002gui.1	Q309B1	OTTHUMG00000059050	ENST00000449552.2:c.529C>T	17.37:g.18638255C>T	ENSP00000461386:p.Arg177Cys					TRIM16L_ENST00000395902.3_Missense_Mutation_p.R231C|TRIM16L_ENST00000414850.2_Silent_p.T89T|TRIM16L_ENST00000571708.1_Missense_Mutation_p.R177C|TRIM16L_ENST00000395671.4_Missense_Mutation_p.R177C|TRIM16L_ENST00000395672.2_Missense_Mutation_p.R177C|TRIM16L_ENST00000572555.1_Missense_Mutation_p.R177C	p.R177C			Q309B1	TR16L_HUMAN			7	2013	+			177			B30.2/SPRY.		A0PK10|B2RUW6|B4DQK2|B4DWQ8	Missense_Mutation	SNP	ENST00000449552.2	37	c.529C>T	CCDS32588.1	.	.	.	.	.	.	.	.	.	.	c	4.575	0.106727	0.08780	.	.	ENSG00000108448	ENST00000395902;ENST00000395672;ENST00000395671	T;T;T	0.13901	2.55;2.55;2.55	3.54	2.55	0.30701	Concanavalin A-like lectin/glucanase (1);SPRY-associated (1);B30.2/SPRY domain (1);	0.370611	0.22137	U	0.064105	T	0.39911	0.1096	M	0.89904	3.07	0.37442	D	0.914467	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.79108	0.991;0.992;0.991	T	0.48790	-0.9004	10	0.87932	D	0	-16.7341	8.6334	0.33933	0.0:0.8807:0.0:0.1193	.	231;393;177	B4DE22;B3KMJ2;Q309B1	.;.;TR16L_HUMAN	C	231;177;177	ENSP00000379239:R231C;ENSP00000379031:R177C;ENSP00000379030:R177C	ENSP00000379030:R177C	R	+	1	0	TRIM16L	18578980	1.000000	0.71417	0.992000	0.48379	0.266000	0.26442	3.018000	0.49625	0.691000	0.31592	0.194000	0.17425	CGC		0.607	TRIM16L-012	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130670.3	NM_001037330		6	35	0	0	0	1	0	6	35					T	18638255	C	T	18638255	3	4	414	1	0	0	0	0	1	0	0	0	16489	652	23	2	543	2	TRIM16L	17	18638255	Missense_Mutation	SNP	C	TCGA-VP-A87B-01A-11D-A34U-08		18638255	62556955	44	20104											
ERBB2	2064	broad.mit.edu	37	chr17	37883719	37883719	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atgaccccagccctctacagCggtacagtgaggaccccaca	11	5	9	16	1	1	2	0	2	1	0	1	3	1	3	5	2	4	1	5	2	2	2	rs143958183		TCGA-VP-A87B-01A-11D-A34U-08	TCGA-VP-A87B-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba2e9eb3-d530-49c4-ae78-d3069862fc71	4d2a435f-5ae8-4a20-be13-cf9208534cd2	g.chr17:37883719C>T	ENST00000269571.5	+	26	3490	c.3331C>T	c.(3331-3333)Cgg>Tgg	p.R1111W	ERBB2_ENST00000541774.1_Missense_Mutation_p.R1096W|MIEN1_ENST00000474210.1_5'Flank|MIR4728_ENST00000580969.1_RNA|ERBB2_ENST00000540147.1_Missense_Mutation_p.R1081W|ERBB2_ENST00000584450.1_Intron|ERBB2_ENST00000406381.2_Missense_Mutation_p.R1081W|ERBB2_ENST00000445658.2_Missense_Mutation_p.R835W|ERBB2_ENST00000584601.1_Missense_Mutation_p.R1081W			P04626	ERBB2_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2	1111					axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|enzyme linked receptor protein signaling pathway (GO:0007167)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|motor neuron axon guidance (GO:0008045)|myelination (GO:0042552)|negative regulation of immature T cell proliferation in thymus (GO:0033088)|neuromuscular junction development (GO:0007528)|neurotrophin TRK receptor signaling pathway (GO:0048011)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine phosphorylation (GO:0018108)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell growth (GO:0030307)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of transcription from RNA polymerase I promoter (GO:0045943)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of angiogenesis (GO:0045765)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of microtubule-based process (GO:0032886)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|transcription, DNA-templated (GO:0006351)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|ErbB-3 class receptor binding (GO:0043125)|identical protein binding (GO:0042802)|protein C-terminus binding (GO:0008022)|protein dimerization activity (GO:0046983)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|RNA polymerase I core binding (GO:0001042)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4)	247	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	ado-trastuzumab emtansine(DB05773)|Afatinib(DB08916)|Lapatinib(DB01259)|Pertuzumab(DB06366)|Trastuzumab(DB00072)	CCCTCTACAGCGGTACAGTGA	0.622		1	"A, Mis, O"		"breast, ovarian, other tumour types, NSCLC, gastric"					TCGA GBM(5;<1E-08)																												ENST00000406381.2		1		Dom	yes		17	17q21.1	2064	"A, Mis, O"	"v-erb-b2 erythroblastic leukemia viral oncogene homolog 2, neuro/glioblastoma derived oncogene homolog (avian)"			E			"breast, ovarian, other tumour types, NSCLC, gastric"		0				NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4)	247						c.(3241-3243)Cgg>Tgg		v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2	Lapatinib(DB01259)|Letrozole(DB01006)|Trastuzumab(DB00072)	C	TRP/ARG,TRP/ARG	0,4406		0,0,2203	58	60	59		3241,3331	4.2	1	17	dbSNP_134	59	2,8598	2.2+/-6.3	0,2,4298	no	missense,missense	ERBB2	NM_001005862.1,NM_004448.2	101,101	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	probably-damaging,probably-damaging	1081/1226,1111/1256	37883719	2,13004	2203	4300	6503	SO:0001583	missense	2064				cell proliferation|heart development|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of cell adhesion|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|protein autophosphorylation|regulation of angiogenesis|regulation of microtubule-based process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|wound healing	integral to membrane|nucleus|perinuclear region of cytoplasm|receptor complex	ATP binding|DNA binding|epidermal growth factor receptor activity|ErbB-3 class receptor binding|identical protein binding|protein C-terminus binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	g.chr17:37883719C>T	X03363	CCDS32642.1, CCDS45667.1, CCDS74052.1	17q11.2-q12	2014-09-17	2013-07-09			ENSG00000141736		"CD molecules"	3430	protein-coding gene	gene with protein product	"neuro/glioblastoma derived oncogene homolog"	164870	"v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2 (neuro/glioblastoma derived oncogene homolog)"	NGL			Standard	XM_005257140		Approved	NEU, HER-2, CD340, HER2	uc002hso.3	P04626		ENST00000269571.5:c.3331C>T	17.37:g.37883719C>T	ENSP00000269571:p.Arg1111Trp	TCGA GBM(5;<1E-08)				ERBB2_ENST00000584450.1_Intron|ERBB2_ENST00000445658.2_Missense_Mutation_p.R835W|ERBB2_ENST00000584601.1_Missense_Mutation_p.R1081W|ERBB2_ENST00000541774.1_Missense_Mutation_p.R1096W|ERBB2_ENST00000540147.1_Missense_Mutation_p.R1081W|ERBB2_ENST00000269571.5_Missense_Mutation_p.R1111W	p.R1081W	NM_001005862.1	NP_001005862.1	P04626	ERBB2_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	28	3751	+	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	1111					B2RZG3|B4DHN3|Q14256|Q6LDV1|Q9UMK4|X5D2V5	Missense_Mutation	SNP	ENST00000269571.5	37	c.3241C>T	CCDS32642.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.059451	0.76074	0.0	2.33E-4	ENSG00000141736	ENST00000406381;ENST00000541774;ENST00000445658;ENST00000269571;ENST00000540147	T;T;T;T;T	0.80214	-1.33;-1.34;-1.35;-1.34;-1.33	5.2	4.22	0.49857	.	.	.	.	.	D	0.89536	0.6743	M	0.82823	2.61	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.998;0.994;0.999	D	0.90661	0.4590	9	0.87932	D	0	.	13.1099	0.59267	0.1608:0.8392:0.0:0.0	.	835;1096;1111	B4DTR1;P04626-4;P04626	.;.;ERBB2_HUMAN	W	1081;1096;835;1111;1081	ENSP00000385185:R1081W;ENSP00000446466:R1096W;ENSP00000404047:R835W;ENSP00000269571:R1111W;ENSP00000443562:R1081W	ENSP00000269571:R1111W	R	+	1	2	ERBB2	35137245	1.000000	0.71417	0.999000	0.59377	0.993000	0.82548	3.018000	0.49625	1.159000	0.42565	0.561000	0.74099	CGG		0.622	ERBB2-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445621.2			30	40	0	0	0	1	0	30	40					T	37883719	C	T	37883719	3	4	414	1	0	0	0	0	1	0	0	0	5206	759	27	1	3433	1	ERBB2	17	37883719	Missense_Mutation	SNP	C	TCGA-VP-A87B-01A-11D-A34U-08	19245464	37883719	43311491	45	20105											
SPOP	8405	broad.mit.edu	37	chr17	47696426	47696426	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tctacggatgaatttcttgaAtccccagtctttgccttgca	8	15	7	11	1	3	2	0	2	3	0	4	3	4	3	3	1	3	1	3	1	3	5			TCGA-VP-A87B-01A-11D-A34U-08	TCGA-VP-A87B-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba2e9eb3-d530-49c4-ae78-d3069862fc71	4d2a435f-5ae8-4a20-be13-cf9208534cd2	g.chr17:47696426A>C	ENST00000393328.2	-	6	762	c.397T>G	c.(397-399)Ttc>Gtc	p.F133V	SPOP_ENST00000393331.3_Missense_Mutation_p.F133V|SPOP_ENST00000504102.1_Missense_Mutation_p.F133V|SPOP_ENST00000347630.2_Missense_Mutation_p.F133V|SPOP_ENST00000503676.1_Missense_Mutation_p.F133V|SPOP_ENST00000513080.1_5'Flank	NM_003563.3	NP_003554.1	O43791	SPOP_HUMAN	speckle-type POZ protein	133	Important for binding substrate proteins.|MATH. {ECO:0000255|PROSITE- ProRule:PRU00129}.|Required for nuclear localization.				glucose homeostasis (GO:0042593)|positive regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902237)|positive regulation of type B pancreatic cell apoptotic process (GO:2000676)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	Cul3-RING ubiquitin ligase complex (GO:0031463)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	ubiquitin protein ligase binding (GO:0031625)	p.F133V(4)		endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						AATTTCTTGAATCCCCAGTCT	0.448										Prostate(2;0.17)																												ENST00000393331.3																			4	Substitution - Missense(4)	p.F133V(4)	prostate(4)	endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						c.(397-399)Ttc>Gtc		speckle-type POZ protein							119	121	120					17																	47696426		2203	4300	6503	SO:0001583	missense	8405				mRNA processing	nucleus	protein binding	g.chr17:47696426A>C	AJ000644	CCDS11551.1	17q21.33	2013-01-09			ENSG00000121067	ENSG00000121067		"BTB/POZ domain containing"	11254	protein-coding gene	gene with protein product		602650				9414087	Standard	NM_001007227		Approved	TEF2, BTBD32	uc002ipg.3	O43791	OTTHUMG00000161496	ENST00000393328.2:c.397T>G	17.37:g.47696426A>C	ENSP00000377001:p.Phe133Val	Prostate(2;0.17)				SPOP_ENST00000503676.1_Missense_Mutation_p.F133V|SPOP_ENST00000504102.1_Missense_Mutation_p.F133V|SPOP_ENST00000393328.2_Missense_Mutation_p.F133V|SPOP_ENST00000347630.2_Missense_Mutation_p.F133V	p.F133V	NM_001007226.1|NM_001007227.1	NP_001007227.1|NP_001007228.1	O43791	SPOP_HUMAN			7	867	-			133			MATH.|Required for nuclear localization.		B2R6S3|D3DTW7|Q53HJ1	Missense_Mutation	SNP	ENST00000393328.2	37	c.397T>G	CCDS11551.1	.	.	.	.	.	.	.	.	.	.	A	24.6	4.550963	0.86127	.	.	ENSG00000121067	ENST00000393328;ENST00000393331;ENST00000347630;ENST00000504102;ENST00000503536;ENST00000503676;ENST00000513872;ENST00000509079;ENST00000505581;ENST00000507970;ENST00000514121	T;T;T;T;T;T;T;T;T	0.42513	0.97;0.97;0.97;0.97;0.97;0.97;0.97;0.97;0.97	5.41	5.41	0.78517	TRAF-type (1);TRAF-like (1);MATH (3);	0.000000	0.85682	D	0.000000	T	0.68632	0.3022	M	0.94021	3.485	0.80722	D	1	P	0.35155	0.487	P	0.49637	0.617	T	0.74861	-0.3520	10	0.66056	D	0.02	-9.6576	15.258	0.73599	1.0:0.0:0.0:0.0	.	133	O43791	SPOP_HUMAN	V	133;133;133;133;17;133;86;133;133;133;133	ENSP00000377001:F133V;ENSP00000377004:F133V;ENSP00000240327:F133V;ENSP00000425905:F133V;ENSP00000420908:F133V;ENSP00000426986:F133V;ENSP00000420960:F133V;ENSP00000426262:F133V;ENSP00000424119:F133V	ENSP00000240327:F133V	F	-	1	0	SPOP	45051425	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.131000	0.94446	2.261000	0.74972	0.460000	0.39030	TTC		0.448	SPOP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365154.2	NM_003563		69	93	0	0	0	1	0	69	93					C	47696426	A	C	47696426	3	2	414	1	0	0	0	0	1	0	0	0	15083	101	4	5	751	5	SPOP	17	47696426	Missense_Mutation	SNP	A	TCGA-VP-A87B-01A-11D-A34U-08	9812707	47696426	33498784	46	20106											
LILRB5	10990	broad.mit.edu	37	chr19	54760504	54760504	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gtgggttctgtctcttccggGcccatgggagtccctcctta	3	13	12	13	1	2	0	0	0	2	0	6	1	5	1	4	3	0	1	4	3	1	3			TCGA-VP-A87B-01A-11D-A34U-08	TCGA-VP-A87B-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba2e9eb3-d530-49c4-ae78-d3069862fc71	4d2a435f-5ae8-4a20-be13-cf9208534cd2	g.chr19:54760504G>A	ENST00000316219.5	-	3	310	c.203C>T	c.(202-204)gCc>gTc	p.A68V	LILRB5_ENST00000450632.1_Missense_Mutation_p.A68V|LILRB5_ENST00000449561.2_Missense_Mutation_p.A68V|LILRB5_ENST00000345866.6_Missense_Mutation_p.A68V	NM_001081442.1|NM_006840.3	NP_001074911.1|NP_006831.1	O75023	LIRB5_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5	68	Ig-like C2-type 1.				cell surface receptor signaling pathway (GO:0007166)|defense response (GO:0006952)|immune system process (GO:0002376)	integral component of membrane (GO:0016021)	transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		TCTCTTCCGGGCCCATGGGAG	0.607																																						ENST00000450632.1																			0				NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	56						c.(202-204)gCc>gTc		leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5							178	169	172					19																	54760504		2203	4300	6503	SO:0001583	missense	0				cell surface receptor linked signaling pathway|defense response	integral to membrane	transmembrane receptor activity	g.chr19:54760504G>A	AF025534	CCDS12885.1, CCDS42611.1, CCDS46176.1	19q13.4	2013-01-11			ENSG00000105609	ENSG00000105609		"Leukocyte immunoglobulin-like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6609	protein-coding gene	gene with protein product		604814				9548455	Standard	NM_006840		Approved	LIR-8, LIR8, CD85c	uc002qey.3	O75023	OTTHUMG00000066636	ENST00000316219.5:c.203C>T	19.37:g.54760504G>A	ENSP00000320390:p.Ala68Val					LILRB5_ENST00000345866.6_Missense_Mutation_p.A68V|LILRB5_ENST00000316219.5_Missense_Mutation_p.A68V|LILRB5_ENST00000449561.2_Missense_Mutation_p.A68V	p.A68V			O75023	LIRB5_HUMAN		GBM - Glioblastoma multiforme(193;0.105)	3	280	-	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)		68			Ig-like C2-type 1.		Q8N760	Missense_Mutation	SNP	ENST00000316219.5	37	c.203C>T	CCDS12885.1	.	.	.	.	.	.	.	.	.	.	G	7.102	0.574339	0.13623	.	.	ENSG00000105609	ENST00000316219;ENST00000450632;ENST00000449561;ENST00000345866	T;T;T;T	0.12672	2.66;2.66;2.66;2.66	2.87	-0.753	0.11068	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.10508	0.0257	N	0.25485	0.75	0.09310	N	1	B;B;B;B;B	0.32071	0.157;0.355;0.289;0.035;0.01	B;B;B;B;B	0.41946	0.158;0.371;0.177;0.05;0.103	T	0.40869	-0.9540	9	0.38643	T	0.18	.	2.2345	0.04004	0.3011:0.0:0.4516:0.2474	.	68;59;68;68;68	C9JMK7;Q8NF80;O75023-2;O75023-3;O75023	.;.;.;.;LIRB5_HUMAN	V	68	ENSP00000320390:A68V;ENSP00000414225:A68V;ENSP00000406478:A68V;ENSP00000263430:A68V	ENSP00000320390:A68V	A	-	2	0	LILRB5	59452316	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.451000	0.01006	0.079000	0.16929	-0.335000	0.08231	GCC		0.607	LILRB5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000142877.2			39	156	0	0	0	1	0	39	156					A	54760504	G	A	54760504	3	1	414	1	0	0	0	0	1	0	0	0	8794	1203	42	3	1616	3	LILRB5	19	54760504	Missense_Mutation	SNP	G	TCGA-VP-A87B-01A-11D-A34U-08		54760504	4368479	47	20107											
SSTR4	6754	broad.mit.edu	37	chr20	23016391	23016391	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tctacctgctcaacctggccGtagccgacgagctcttcatg	7	10	9	15	3	4	0	2	0	2	0	4	2	4	0	4	1	5	3	4	1	3	3			TCGA-VP-A87B-01A-11D-A34U-08	TCGA-VP-A87B-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba2e9eb3-d530-49c4-ae78-d3069862fc71	4d2a435f-5ae8-4a20-be13-cf9208534cd2	g.chr20:23016391G>A	ENST00000255008.3	+	1	335	c.271G>A	c.(271-273)Gta>Ata	p.V91I	RP4-753D10.3_ENST00000440921.1_RNA	NM_001052.2	NP_001043.2	P31391	SSR4_HUMAN	somatostatin receptor 4	91					arachidonic acid metabolic process (GO:0019369)|cell migration (GO:0016477)|cellular response to glucocorticoid stimulus (GO:0071385)|forebrain development (GO:0030900)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|negative regulation of cAMP metabolic process (GO:0030815)|negative regulation of cell proliferation (GO:0008285)|positive regulation of MAPK cascade (GO:0043410)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	somatostatin receptor activity (GO:0004994)			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)	32	Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118)					CAACCTGGCCGTAGCCGACGA	0.657																																					Esophageal Squamous(15;850 1104 16640)	ENST00000255008.3																			0				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)	32						c.(271-273)Gta>Ata		somatostatin receptor 4							114	121	119					20																	23016391		2202	4300	6502	SO:0001583	missense	6754				G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cell proliferation	integral to plasma membrane	somatostatin receptor activity	g.chr20:23016391G>A		CCDS42856.1	20p11.21	2014-07-11			ENSG00000132671	ENSG00000132671		"GPCR / Class A : Somatostatin receptors"	11333	protein-coding gene	gene with protein product		182454				8483934	Standard	NM_001052		Approved		uc002wsr.2	P31391	OTTHUMG00000032054	ENST00000255008.3:c.271G>A	20.37:g.23016391G>A	ENSP00000255008:p.Val91Ile					RP4-753D10.3_ENST00000440921.1_RNA	p.V91I	NM_001052.2	NP_001043.2	P31391	SSR4_HUMAN			1	335	+	Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118)		91					Q17RM1|Q17RM3|Q9UIY1	Missense_Mutation	SNP	ENST00000255008.3	37	c.271G>A	CCDS42856.1	.	.	.	.	.	.	.	.	.	.	G	0.016	-1.522868	0.00967	.	.	ENSG00000132671	ENST00000255008	T	0.19532	2.14	3.32	-1.99	0.07457	GPCR, rhodopsin-like superfamily (1);	0.231983	0.27159	N	0.020642	T	0.06554	0.0168	N	0.05306	-0.075	0.09310	N	1	B	0.06786	0.001	B	0.11329	0.006	T	0.40232	-0.9574	10	0.02654	T	1	.	8.265	0.31808	0.759:0.0:0.241:0.0	.	91	P31391	SSR4_HUMAN	I	91	ENSP00000255008:V91I	ENSP00000255008:V91I	V	+	1	0	SSTR4	22964391	0.580000	0.26733	0.037000	0.18230	0.599000	0.36880	0.339000	0.19875	-0.229000	0.09854	-0.367000	0.07326	GTA		0.657	SSTR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078308.1			5	167	0	0	0	1	0	5	167					A	23016391	G	A	23016391	3	1	414	1	0	0	0	0	1	0	0	0	15199	1145	40	1	273	1	SSTR4	20	23016391	Missense_Mutation	SNP	G	TCGA-VP-A87B-01A-11D-A34U-08		23016391	40009129	48	20108											
TMEM90B	79953	broad.mit.edu	37	chr20	24565546	24565546	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atttcctcatgatgcccccgCgggaccacctgggcctcagt	6	9	10	16	2	2	1	2	1	0	0	3	2	3	2	6	2	1	0	6	2	0	1			TCGA-VP-A87B-01A-11D-A34U-08	TCGA-VP-A87B-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba2e9eb3-d530-49c4-ae78-d3069862fc71	4d2a435f-5ae8-4a20-be13-cf9208534cd2	g.chr20:24565546C>T	ENST00000376862.3	+	3	1168	c.535C>T	c.(535-537)Cgg>Tgg	p.R179W	SYNDIG1_ENST00000482637.1_3'UTR	NM_024893.1	NP_079169.1	Q9H7V2	SYNG1_HUMAN	synapse differentiation inducing 1	179					intracellular protein transport (GO:0006886)|positive regulation of synapse assembly (GO:0051965)|response to biotic stimulus (GO:0009607)|synaptic vesicle clustering (GO:0097091)	cell body (GO:0044297)|cell junction (GO:0030054)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|early endosome membrane (GO:0031901)|excitatory synapse (GO:0060076)|integral component of plasma membrane (GO:0005887)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	glutamate receptor binding (GO:0035254)|protein homodimerization activity (GO:0042803)			breast(2)|endometrium(1)|large_intestine(3)|lung(14)|prostate(1)|skin(3)	24						GATGCCCCCGCGGGACCACCT	0.552																																						ENST00000376862.3																			0				breast(2)|endometrium(1)|large_intestine(3)|lung(14)|prostate(1)|skin(3)	24						c.(535-537)Cgg>Tgg		synapse differentiation inducing 1							138	126	130					20																	24565546		2203	4300	6503	SO:0001583	missense	79953				response to biotic stimulus	early endosome membrane|integral to membrane|plasma membrane		g.chr20:24565546C>T	AK024282	CCDS13164.1	20p11.21	2011-06-30	2011-06-30	2011-06-30	ENSG00000101463	ENSG00000101463			15885	protein-coding gene	gene with protein product	"interferon induced transmembrane protein domain containing 5", "synapse differentiation induced gene 1"	614311	"chromosome 20 open reading frame 39", "transmembrane protein 90B"	C20orf39, TMEM90B		20152115	Standard	NM_024893		Approved	FLJ14220, IFITMD5, SynDIG1	uc002wtw.1	Q9H7V2	OTTHUMG00000032104	ENST00000376862.3:c.535C>T	20.37:g.24565546C>T	ENSP00000366058:p.Arg179Trp					SYNDIG1_ENST00000482637.1_3'UTR	p.R179W	NM_024893.1	NP_079169.1	Q9H7V2	SYNG1_HUMAN			3	1168	+			179					Q6IA30|Q9H514	Missense_Mutation	SNP	ENST00000376862.3	37	c.535C>T	CCDS13164.1	.	.	.	.	.	.	.	.	.	.	C	12.95	2.090311	0.36855	.	.	ENSG00000101463	ENST00000376862	D	0.87334	-2.24	5.1	1.96	0.26148	.	0.000000	0.64402	D	0.000001	D	0.90109	0.6910	M	0.62723	1.935	0.47778	D	0.99951	D	0.89917	1.0	D	0.79784	0.993	D	0.87443	0.2396	10	0.87932	D	0	-28.9413	6.8243	0.23874	0.4981:0.4176:0.0:0.0843	.	179	Q9H7V2	SYNG1_HUMAN	W	179	ENSP00000366058:R179W	ENSP00000366058:R179W	R	+	1	2	SYNDIG1	24513546	0.000000	0.05858	0.235000	0.24058	0.250000	0.25880	-0.503000	0.06383	0.129000	0.18514	0.561000	0.74099	CGG		0.552	SYNDIG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078376.1	NM_024893		22	109	0	0	0	1	0	22	109					T	24565546	C	T	24565546	3	4	414	1	0	0	0	0	1	0	0	0	16216	759	27	1	541	1	TMEM90B	20	24565546	Missense_Mutation	SNP	C	TCGA-VP-A87B-01A-11D-A34U-08	1549155	24565546	38459974	49	20109											
FAM47C	442444	broad.mit.edu	37	chrX	37028251	37028251	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcccagagcctcccaagactCgggtgtccagtctccccccg	6	6	10	19	2	1	2	0	0	1	2	5	2	3	2	7	1	1	0	7	1	1	0			TCGA-VP-A87B-01A-11D-A34U-08	TCGA-VP-A87B-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba2e9eb3-d530-49c4-ae78-d3069862fc71	4d2a435f-5ae8-4a20-be13-cf9208534cd2	g.chrX:37028251C>T	ENST00000358047.3	+	1	1820	c.1768C>T	c.(1768-1770)Cgg>Tgg	p.R590W		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	590										breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						TCCCAAGACTCGGGTGTCCAG	0.657																																						ENST00000358047.3																			0				breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						c.(1768-1770)Cgg>Tgg		family with sequence similarity 47, member C							28	34	32					X																	37028251		2200	4290	6490	SO:0001583	missense	442444							g.chrX:37028251C>T	AK125992	CCDS35227.1	Xp21.1	2006-07-04			ENSG00000198173	ENSG00000198173			25301	protein-coding gene	gene with protein product							Standard	NM_001013736		Approved		uc004ddl.2	Q5HY64	OTTHUMG00000024025	ENST00000358047.3:c.1768C>T	X.37:g.37028251C>T	ENSP00000367913:p.Arg590Trp						p.R590W	NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN			1	1820	+			590					Q6ZU46	Missense_Mutation	SNP	ENST00000358047.3	37	c.1768C>T	CCDS35227.1	.	.	.	.	.	.	.	.	.	.	-	15.28	2.785935	0.49997	.	.	ENSG00000198173	ENST00000358047	T	0.16597	2.33	1.71	0.597	0.17504	.	.	.	.	.	T	0.13884	0.0336	M	0.63428	1.95	0.09310	N	1	D	0.61080	0.989	B	0.34991	0.193	T	0.17501	-1.0367	9	0.87932	D	0	.	7.413	0.27027	0.0:0.7287:0.2713:0.0	.	590	Q5HY64	FA47C_HUMAN	W	590	ENSP00000367913:R590W	ENSP00000367913:R590W	R	+	1	2	FAM47C	36938172	0.001000	0.12720	0.003000	0.11579	0.141000	0.21300	-0.437000	0.06914	-0.098000	0.12285	0.418000	0.28097	CGG		0.657	FAM47C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060508.1	NM_001013736		5	62	0	0	0	1	0	5	62					T	37028251	C	T	37028251	3	4	414	1	0	0	0	0	1	0	0	0	5571	875	31	2	1770	2	FAM47C	23	37028251	Missense_Mutation	SNP	C	TCGA-VP-A87B-01A-11D-A34U-08		37028251	118242309	50	20110											
ZDHHC9	51114	broad.mit.edu	37	chrX	128944944	128944944	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaggtcgacttccactttcCtccagtggcaaaatacccct	9	10	8	14	1	0	0	0	0	0	0	4	2	3	1	5	3	1	1	5	3	3	3			TCGA-VP-A87B-01A-11D-A34U-08	TCGA-VP-A87B-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba2e9eb3-d530-49c4-ae78-d3069862fc71	4d2a435f-5ae8-4a20-be13-cf9208534cd2	g.chrX:128944944C>T	ENST00000357166.6	-	10	1306	c.915G>A	c.(913-915)gaG>gaA	p.E305E	ZDHHC9_ENST00000371064.3_Silent_p.E305E	NM_016032.3	NP_057116.2	Q9Y397	ZDHC9_HUMAN	zinc finger, DHHC-type containing 9	305					peptidyl-L-cysteine S-palmitoylation (GO:0018230)|protein palmitoylation (GO:0018345)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intrinsic component of Golgi membrane (GO:0031228)|palmitoyltransferase complex (GO:0002178)	palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|Ras palmitoyltransferase activity (GO:0043849)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)	19						TTCCACTTTCCTCCAGTGGCA	0.517																																						ENST00000357166.6																			0				breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)	19						c.(913-915)gaG>gaA		zinc finger, DHHC-type containing 9							80	67	71					X																	128944944		2203	4300	6503	SO:0001819	synonymous_variant	51114					endoplasmic reticulum membrane|Golgi membrane|integral to membrane	acyltransferase activity|zinc ion binding	g.chrX:128944944C>T	AF151847	CCDS35395.1	Xq26.1	2008-02-05			ENSG00000188706	ENSG00000188706		"Zinc fingers, DHHC-type"	18475	protein-coding gene	gene with protein product		300646	"zinc finger, DHHC-type containing 10", "chromosome X open reading frame 11"	ZDHHC10, CXorf11		10810093	Standard	NM_001008222		Approved	ZNF379, CGI-89, ZNF380	uc004euw.3	Q9Y397	OTTHUMG00000022375	ENST00000357166.6:c.915G>A	X.37:g.128944944C>T						ZDHHC9_ENST00000371064.3_Silent_p.E305E	p.E305E	NM_016032.3	NP_057116.2	Q9Y397	ZDHC9_HUMAN			10	1306	-			305					B4F6G2|D3DTF9|Q59EK4|Q5JSW5|Q8WWS7|Q9BPY4|Q9NSP0|Q9NVL0|Q9NVR6	Silent	SNP	ENST00000357166.6	37	c.915G>A	CCDS35395.1																																																																																				0.517	ZDHHC9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058213.1	NM_016032		10	4	0	0	0	1	0	10	4					T	128944944	C	T	128944944	2	4	414	1	0	0	0	0	0	0	0	1	17619	680	24	3		3	ZDHHC9	23	128944944	Silent	SNP	C	TCGA-VP-A87B-01A-11D-A34U-08	91916693	128944944	26325616	51	20111											
UBXN11	91544	broad.mit.edu	37	chr1	26608795	26608796	+	In_Frame_Ins	INS	-	-	GGGGCT																															agggggcgggtgctttattgINSggggctgggactgggtccag																								rs146441030	byFrequency	TCGA-VP-A87C-01A-11D-A34U-08	TCGA-VP-A87C-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9a3cde7-512a-4a9a-ba0c-3f630f015fb3	d76bd858-d1bd-40a1-9abf-4015860fd89b	g.chr1:26608795_26608796insGGGGCT	ENST00000374222.1	-	16	2021_2022	c.1557_1558insAGCCCC	c.(1555-1560)ccccaa>cccAGCCCCcaa	p.518_519insPS	UBXN11_ENST00000374223.1_In_Frame_Ins_p.275_276insPS|UBXN11_ENST00000374221.3_In_Frame_Ins_p.518_519insPS|UBXN11_ENST00000357089.4_In_Frame_Ins_p.485_486insPS|UBXN11_ENST00000314675.7_In_Frame_Ins_p.398_399insPS|UBXN11_ENST00000374217.2_In_Frame_Ins_p.485_486insPS			Q5T124	UBX11_HUMAN	UBX domain protein 11	518	Pro-rich.					cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(3)	23						GTGCTTTATTGggggctgggac	0.738														80	0.0159744	0.0575	0.0043	5008	,	,		11716	0		0.001	False		,,,				2504	0					ENST00000314675.7																			0				endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(3)	23						c.(1195-1200)ccaata>ccAGCCCCaata		UBX domain protein 11																																				SO:0001652	inframe_insertion	91544					cytoplasm|cytoskeleton		g.chr1:26608795_26608796insGGGGCT	AF521017	CCDS41286.1, CCDS41287.1, CCDS41288.1	1p36.11	2008-07-25	2008-07-25	2008-07-25	ENSG00000158062	ENSG00000158062		"UBX domain containing"	30600	protein-coding gene	gene with protein product	"socius"	609151	"UBX domain containing 5"	UBXD5		11940653	Standard	NM_183008		Approved	SOC, SOCI	uc001blw.3	Q5T124	OTTHUMG00000003382	ENST00000374222.1:c.1552_1557dupAGCCCC	1.37:g.26608796_26608801dupGGGGCT	ENSP00000363339:p.Pro517_Ser518dup					UBXN11_ENST00000374217.2_In_Frame_Ins_p.485_486insPA|UBXN11_ENST00000357089.4_In_Frame_Ins_p.485_486insPA|UBXN11_ENST00000374222.1_In_Frame_Ins_p.518_519insPA|UBXN11_ENST00000374221.3_In_Frame_Ins_p.518_519insPA|UBXN11_ENST00000374223.1_In_Frame_Ins_p.275_276insPA	p.398_399insPA	NM_001077262.1	NP_001070730.1	Q5T124	UBX11_HUMAN			11	1276_1277	-			518			UBX.		D3DPK6|Q5T117|Q5T120|Q5T125|Q5T126|Q5T129|Q5T131|Q5T133|Q63HM6|Q71RB3|Q8IY27|Q8N1L6|Q8N9M4|Q8NA18|Q8NFE3|Q8NFE4|Q8NFE6	In_Frame_Ins	INS	ENST00000374222.1	37	c.1197_1198insAGCCCC	CCDS41288.1																																																																																				0.738	UBXN11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000009500.1	NM_145345		6	10						6	10	---	---	---	---	GGGGCT	26608796	-	GGGGCT	26608795	7	5	415	1	0	1	1	0	0	0	0	0	16910	1357	47	0	8	0	UBXN11	1	26608795	In_Frame_Ins	INS	-	TCGA-VP-A87C-01A-11D-A34U-08		26608795	222641826	1	20112											
CD5L	922	broad.mit.edu	37	chr1	157804497	157804497	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgcccagggccgtcagccaGcctgacaccctctgggactg	7	6	12	16	1	2	1	1	1	1	0	2	2	2	2	5	2	3	0	5	2	0	0			TCGA-VP-A87C-01A-11D-A34U-08	TCGA-VP-A87C-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9a3cde7-512a-4a9a-ba0c-3f630f015fb3	d76bd858-d1bd-40a1-9abf-4015860fd89b	g.chr1:157804497G>T	ENST00000368174.4	-	4	514	c.418C>A	c.(418-420)Ctg>Atg	p.L140M	CD5L_ENST00000484609.1_5'Flank	NM_005894.2	NP_005885.1	O43866	CD5L_HUMAN	CD5 molecule-like	140	SRCR 2. {ECO:0000255|PROSITE- ProRule:PRU00196}.				apoptotic process (GO:0006915)|cellular defense response (GO:0006968)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	scavenger receptor activity (GO:0005044)	p.L140L(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	52	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			CCGTCAGCCAGCCTGACACCC	0.582																																						ENST00000368174.4																			1	Substitution - coding silent(1)	p.L140L(1)	lung(1)	NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	52						c.(418-420)Ctg>Atg		CD5 molecule-like							73	75	75					1																	157804497		2203	4300	6503	SO:0001583	missense	922				apoptosis|cellular defense response	extracellular space|membrane	scavenger receptor activity	g.chr1:157804497G>T	U82812	CCDS1171.1	1q21-q23	2008-02-05	2006-03-28		ENSG00000073754	ENSG00000073754			1690	protein-coding gene	gene with protein product		602592	"apoptosis inhibitor 6", "CD5 antigen-like (scavenger receptor cysteine rich family)"	API6		9045627	Standard	NM_005894		Approved	Spalpha	uc001frk.4	O43866	OTTHUMG00000022440	ENST00000368174.4:c.418C>A	1.37:g.157804497G>T	ENSP00000357156:p.Leu140Met						p.L140M	NM_005894.2	NP_005885.1	O43866	CD5L_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.24)		4	514	-	all_hematologic(112;0.0378)		140			SRCR 2.		A8K7M5|Q6UX63	Missense_Mutation	SNP	ENST00000368174.4	37	c.418C>A	CCDS1171.1	.	.	.	.	.	.	.	.	.	.	G	16.84	3.233768	0.58886	.	.	ENSG00000073754	ENST00000368174	T	0.60299	0.2	4.82	3.91	0.45181	Speract/scavenger receptor (1);Speract/scavenger receptor-related (2);	0.000000	0.35124	N	0.003438	T	0.71230	0.3315	M	0.93939	3.475	0.30981	N	0.722529	D	0.89917	1.0	D	0.91635	0.999	T	0.71447	-0.4590	10	0.59425	D	0.04	.	7.2807	0.26310	0.1938:0.0:0.8062:0.0	.	140	O43866	CD5L_HUMAN	M	140	ENSP00000357156:L140M	ENSP00000357156:L140M	L	-	1	2	CD5L	156071121	0.960000	0.32886	0.036000	0.18154	0.057000	0.15508	1.398000	0.34554	1.253000	0.44018	0.563000	0.77884	CTG		0.582	CD5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058346.1	NM_005894		10	43	1	0	0.0809354	1	0.0871612	10	43					T	157804497	G	T	157804497	3	4	415	1	0	0	0	0	1	0	0	0	3027	962	34	5	637	5	CD5L	1	157804497	Missense_Mutation	SNP	G	TCGA-VP-A87C-01A-11D-A34U-08	131195702	157804497	91446124	2	20113											
SLC19A2	10560	broad.mit.edu	37	chr1	169438005	169438005	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	caatcaggagagaaaagagaGataatgtcatttctccccaa	17	8	8	8	0	3	3	2	0	1	3	4	6	3	4	2	1	0	0	2	1	5	2			TCGA-VP-A87C-01A-11D-A34U-08	TCGA-VP-A87C-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9a3cde7-512a-4a9a-ba0c-3f630f015fb3	d76bd858-d1bd-40a1-9abf-4015860fd89b	g.chr1:169438005G>A	ENST00000236137.5	-	4	1336	c.1100C>T	c.(1099-1101)tCt>tTt	p.S367F	SLC19A2_ENST00000367804.4_Missense_Mutation_p.S166F	NM_006996.2	NP_008927.1	O60779	S19A2_HUMAN	solute carrier family 19 (thiamine transporter), member 2	367					folic acid transport (GO:0015884)|small molecule metabolic process (GO:0044281)|thiamine transport (GO:0015888)|thiamine-containing compound metabolic process (GO:0042723)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	folic acid transporter activity (GO:0008517)|thiamine transmembrane transporter activity (GO:0015234)|thiamine uptake transmembrane transporter activity (GO:0015403)			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|upper_aerodigestive_tract(1)	11	all_hematologic(923;0.208)				Thiamine(DB00152)	AGAAAAGAGAGATAATGTCAT	0.383																																						ENST00000236137.5																			0				breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|upper_aerodigestive_tract(1)	11						c.(1099-1101)tCt>tTt		solute carrier family 19 (thiamine transporter), member 2							164	144	151					1																	169438005		2203	4300	6503	SO:0001583	missense	10560				thiamine-containing compound metabolic process	integral to membrane|plasma membrane	folic acid binding|folic acid transporter activity|reduced folate carrier activity|thiamine uptake transmembrane transporter activity	g.chr1:169438005G>A	AF135488	CCDS1280.1	1q23.3	2013-05-22			ENSG00000117479	ENSG00000117479		"Solute carriers"	10938	protein-coding gene	gene with protein product		603941		TRMA		9399900, 10391221	Standard	NM_006996		Approved	THTR1	uc001gge.4	O60779	OTTHUMG00000035452	ENST00000236137.5:c.1100C>T	1.37:g.169438005G>A	ENSP00000236137:p.Ser367Phe					SLC19A2_ENST00000367802.3_Missense_Mutation_p.S329F|SLC19A2_ENST00000367804.3_Missense_Mutation_p.S166F	p.S367F	NM_006996.2	NP_008927.1	O60779	S19A2_HUMAN			4	1336	-	all_hematologic(923;0.208)		367					B2R9H0|B4E1X4|Q8WV87|Q9UBL7|Q9UKJ2|Q9UN31|Q9UN43	Missense_Mutation	SNP	ENST00000236137.5	37	c.1100C>T	CCDS1280.1	.	.	.	.	.	.	.	.	.	.	G	13.46	2.245308	0.39697	.	.	ENSG00000117479	ENST00000236137;ENST00000367804;ENST00000367802	T;T;T	0.80994	-1.44;-1.2;-1.44	5.58	4.66	0.58398	Major facilitator superfamily domain, general substrate transporter (1);	0.232641	0.45126	N	0.000399	T	0.56804	0.2010	L	0.28115	0.83	0.32702	N	0.512799	B;B	0.09022	0.002;0.001	B;B	0.13407	0.002;0.009	T	0.55829	-0.8079	9	0.44086	T	0.13	-8.5895	13.5565	0.61761	0.0758:0.0:0.9242:0.0	.	166;367	O60779-2;O60779	.;S19A2_HUMAN	F	367;166;329	ENSP00000236137:S367F;ENSP00000356778:S166F;ENSP00000356776:S329F	ENSP00000236137:S367F	S	-	2	0	SLC19A2	167704629	0.942000	0.31987	0.292000	0.24919	0.986000	0.74619	3.060000	0.49955	1.327000	0.45338	0.650000	0.86243	TCT		0.383	SLC19A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086106.1	NM_006996		4	82	0	0	0	1	0	4	82					A	169438005	G	A	169438005	3	1	415	1	0	0	0	0	1	0	0	0	14429	942	33	3	405	3	SLC19A2	1	169438005	Missense_Mutation	SNP	G	TCGA-VP-A87C-01A-11D-A34U-08	11633508	169438005	79812616	3	20114											
C2orf16	84226	broad.mit.edu	37	chr2	27802537	27802537	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cctggtaaagtcagagtcttCcctcagcatattttacgata	11	13	7	10	1	3	1	2	0	1	1	4	2	4	1	2	1	2	2	2	1	5	6			TCGA-VP-A87C-01A-11D-A34U-08	TCGA-VP-A87C-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9a3cde7-512a-4a9a-ba0c-3f630f015fb3	d76bd858-d1bd-40a1-9abf-4015860fd89b	g.chr2:27802537C>T	ENST00000408964.2	+	1	3149	c.3098C>T	c.(3097-3099)tCc>tTc	p.S1033F	AC074091.1_ENST00000408604.1_RNA	NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN	chromosome 2 open reading frame 16	1033						extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					TCAGAGTCTTCCCTCAGCATA	0.453																																						ENST00000408964.2																			0				breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47						c.(3097-3099)tCc>tTc		chromosome 2 open reading frame 16							100	104	103					2																	27802537		2105	4247	6352	SO:0001583	missense	84226							g.chr2:27802537C>T	AL136898	CCDS42666.1	2p23.3	2013-09-20			ENSG00000221843	ENSG00000221843			25275	protein-coding gene	gene with protein product	"P-S-E-R-S-H-H-S repeats containing"						Standard	NM_032266		Approved	DKFZp434G118	uc002rkz.4	Q68DN1	OTTHUMG00000159099	ENST00000408964.2:c.3098C>T	2.37:g.27802537C>T	ENSP00000386190:p.Ser1033Phe						p.S1033F	NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN			1	3149	+	Acute lymphoblastic leukemia(172;0.155)		1033					B9EIQ4|Q53S01|Q8ND64|Q9H088	Missense_Mutation	SNP	ENST00000408964.2	37	c.3098C>T	CCDS42666.1	.	.	.	.	.	.	.	.	.	.	C	8.813	0.935658	0.18206	.	.	ENSG00000221843	ENST00000408964	T	0.09630	2.96	4.02	3.14	0.36123	.	.	.	.	.	T	0.07369	0.0186	L	0.27053	0.805	0.09310	N	1	P	0.35242	0.492	B	0.29663	0.105	T	0.26780	-1.0093	9	0.87932	D	0	.	7.7515	0.28901	0.0:0.8859:0.0:0.1141	.	1033	Q68DN1	CB016_HUMAN	F	1033	ENSP00000386190:S1033F	ENSP00000386190:S1033F	S	+	2	0	C2orf16	27656041	0.127000	0.22367	0.164000	0.22755	0.056000	0.15407	1.023000	0.30065	1.282000	0.44496	0.467000	0.42956	TCC		0.453	C2orf16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353292.1	NM_032266		18	74	0	0	0	1	0	18	74					T	27802537	C	T	27802537	3	4	415	1	0	0	0	0	1	0	0	0	2157	855	30	3	3100	3	C2orf16	2	27802537	Missense_Mutation	SNP	C	TCGA-VP-A87C-01A-11D-A34U-08		27802537	215396836	4	20115											
KCNH7	90134	broad.mit.edu	37	chr2	163279881	163279881	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gccattggtgtaagtccatgCgtgctggaaatattcttcaa	10	13	10	8	1	2	0	1	0	1	0	3	1	3	1	2	2	2	2	2	2	4	5			TCGA-VP-A87C-01A-11D-A34U-08	TCGA-VP-A87C-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9a3cde7-512a-4a9a-ba0c-3f630f015fb3	d76bd858-d1bd-40a1-9abf-4015860fd89b	g.chr2:163279881C>T	ENST00000332142.5	-	9	2218	c.2119G>A	c.(2119-2121)Gca>Aca	p.A707T	KCNH7_ENST00000328032.4_Missense_Mutation_p.A700T	NM_033272.3	NP_150375.2	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 7	707					circadian rhythm (GO:0007623)|potassium ion transmembrane transport (GO:0071805)|protein heterooligomerization (GO:0051291)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	inward rectifier potassium channel activity (GO:0005242)|signal transducer activity (GO:0004871)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Doxazosin(DB00590)|Ibutilide(DB00308)|Miconazole(DB01110)|Prazosin(DB00457)|Terazosin(DB01162)	TAAGTCCATGCGTGCTGGAAA	0.438																																					GBM(196;1492 2208 17507 24132 45496)	ENST00000332142.5																			0				NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108						c.(2119-2121)Gca>Aca		potassium voltage-gated channel, subfamily H (eag-related), member 7	Ibutilide(DB00308)						247	230	236					2																	163279881		2203	4300	6503	SO:0001583	missense	90134				regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity	g.chr2:163279881C>T	AF032897	CCDS2219.1, CCDS2220.1	2q24.3	2012-07-05			ENSG00000184611	ENSG00000184611		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	18863	protein-coding gene	gene with protein product		608169				16382104	Standard	NM_173162		Approved	Kv11.3, HERG3, erg3	uc002uch.2	Q9NS40	OTTHUMG00000132069	ENST00000332142.5:c.2119G>A	2.37:g.163279881C>T	ENSP00000331727:p.Ala707Thr					KCNH7_ENST00000328032.4_Missense_Mutation_p.A700T	p.A707T	NM_033272.3	NP_150375.2	Q9NS40	KCNH7_HUMAN			9	2218	-			707					Q53QU4|Q53TB7|Q53TP9|Q8IV15	Missense_Mutation	SNP	ENST00000332142.5	37	c.2119G>A	CCDS2219.1	.	.	.	.	.	.	.	.	.	.	C	19.38	3.816943	0.70912	.	.	ENSG00000184611	ENST00000332142;ENST00000328032	D;D	0.96554	-4.05;-4.05	5.82	5.82	0.92795	Cyclic nucleotide-binding-like (1);	0.000000	0.85682	D	0.000000	D	0.94742	0.8303	N	0.25245	0.725	0.80722	D	1	D;B	0.58970	0.984;0.259	P;B	0.55785	0.784;0.049	D	0.91184	0.4978	10	0.05620	T	0.96	.	20.093	0.97828	0.0:1.0:0.0:0.0	.	700;707	Q9NS40-2;Q9NS40	.;KCNH7_HUMAN	T	707;700	ENSP00000331727:A707T;ENSP00000333781:A700T	ENSP00000333781:A700T	A	-	1	0	KCNH7	162988127	1.000000	0.71417	0.688000	0.30117	0.963000	0.63663	4.815000	0.62634	2.756000	0.94617	0.561000	0.74099	GCA		0.438	KCNH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255093.1	NM_033272		27	110	0	0	0	1	0	27	110					T	163279881	C	T	163279881	3	4	415	1	0	0	0	0	1	0	0	0	8037	768	27	1	1569	1	KCNH7	2	163279881	Missense_Mutation	SNP	C	TCGA-VP-A87C-01A-11D-A34U-08	135477344	163279881	79919492	5	20116											
SF3B1	23451	broad.mit.edu	37	chr2	198266711	198266711	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggtaattggtggatttacctTtcctctgtgttggcggatac	6	16	12	7	1	1	0	0	0	1	0	2	2	2	2	2	5	2	2	2	5	3	7			TCGA-VP-A87C-01A-11D-A34U-08	TCGA-VP-A87C-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9a3cde7-512a-4a9a-ba0c-3f630f015fb3	d76bd858-d1bd-40a1-9abf-4015860fd89b	g.chr2:198266711T>C	ENST00000335508.6	-	15	2312	c.2221A>G	c.(2221-2223)Aag>Gag	p.K741E	SNORA4_ENST00000365564.1_RNA|SF3B1_ENST00000462613.1_5'Flank	NM_012433.2	NP_036565.2	O75533	SF3B1_HUMAN	splicing factor 3b, subunit 1, 155kDa	741					anterior/posterior pattern specification (GO:0009952)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U12-type spliceosomal complex (GO:0005689)	chromatin binding (GO:0003682)|poly(A) RNA binding (GO:0044822)			NS(35)|breast(10)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(524)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|pancreas(4)|prostate(6)|salivary_gland(1)|skin(4)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	633			OV - Ovarian serous cystadenocarcinoma(117;0.246)			GGATTTACCTTTCCTCTGTGT	0.353			Mis		myelodysplastic syndrome																																	ENST00000335508.5				Dom	yes		2	2q33.1	23451	Mis	"splicing factor 3b, subunit 1, 155kDa"			L			myelodysplastic syndrome		0				NS(35)|breast(10)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(524)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|pancreas(4)|prostate(6)|salivary_gland(1)|skin(4)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	633						c.(2221-2223)Aag>Gag		splicing factor 3b, subunit 1, 155kDa							89	84	86					2																	198266711		2203	4300	6503	SO:0001583	missense	23451				nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|nuclear speck|U12-type spliceosomal complex	protein binding	g.chr2:198266711T>C	AF054284	CCDS33356.1, CCDS46479.1	2q33.1	2014-09-17	2002-08-29		ENSG00000115524	ENSG00000115524			10768	protein-coding gene	gene with protein product		605590	"splicing factor 3b, subunit 1, 155kD"			9585501	Standard	XM_005246428		Approved	SAP155, SF3b155, PRPF10, Prp10, Hsh155	uc002uue.3	O75533	OTTHUMG00000154447	ENST00000335508.6:c.2221A>G	2.37:g.198266711T>C	ENSP00000335321:p.Lys741Glu						p.K741E	NM_012433.2	NP_036565.2	O75533	SF3B1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.246)		15	2312	-			741					E9PCH3	Missense_Mutation	SNP	ENST00000335508.6	37	c.2221A>G	CCDS33356.1	.	.	.	.	.	.	.	.	.	.	T	28.8	4.949313	0.92660	.	.	ENSG00000115524	ENST00000335508	T	0.63580	-0.05	5.71	5.71	0.89125	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.85544	0.5721	H	0.96175	3.78	0.80722	D	1	D	0.89917	1.0	D	0.74348	0.983	D	0.90249	0.4292	10	0.87932	D	0	.	15.9781	0.80086	0.0:0.0:0.0:1.0	.	741	O75533	SF3B1_HUMAN	E	741	ENSP00000335321:K741E	ENSP00000335321:K741E	K	-	1	0	SF3B1	197974956	1.000000	0.71417	1.000000	0.80357	0.923000	0.55619	7.566000	0.82347	2.171000	0.68590	0.533000	0.62120	AAG		0.353	SF3B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335245.2			21	48	0	0	0	1	0	21	48					C	198266711	T	C	198266711	3	2	415	1	0	0	0	0	1	0	0	0	14149	1850	64	4	1737	4	SF3B1	2	198266711	Missense_Mutation	SNP	T	TCGA-VP-A87C-01A-11D-A34U-08	34986830	198266711	44932662	6	20117											
RAD54L2	23132	broad.mit.edu	37	chr3	51673507	51673507	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaatgagcaggacctagacGtggaagaacttggctctgca	12	7	12	10	1	1	3	0	1	1	2	1	5	1	5	2	3	3	3	2	3	4	2			TCGA-VP-A87C-01A-11D-A34U-08	TCGA-VP-A87C-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9a3cde7-512a-4a9a-ba0c-3f630f015fb3	d76bd858-d1bd-40a1-9abf-4015860fd89b	g.chr3:51673507G>A	ENST00000409535.2	+	12	2058	c.1933G>A	c.(1933-1935)Gtg>Atg	p.V645M	RAD54L2_ENST00000296477.3_Missense_Mutation_p.V339M	NM_015106.2	NP_055921.2	Q9Y4B4	ARIP4_HUMAN	RAD54-like 2 (S. cerevisiae)	645						nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|transcription cofactor activity (GO:0003712)			NS(2)|breast(1)|cervix(2)|endometrium(4)|large_intestine(5)|liver(2)|lung(9)|ovary(4)|skin(2)	31				BRCA - Breast invasive adenocarcinoma(193;0.000102)|Kidney(197;0.000758)|KIRC - Kidney renal clear cell carcinoma(197;0.000896)		GGACCTAGACGTGGAAGAACT	0.557																																						ENST00000409535.1																			0				NS(2)|breast(1)|cervix(2)|endometrium(4)|large_intestine(5)|liver(2)|lung(9)|ovary(4)|skin(2)	31						c.(1933-1935)Gtg>Atg		RAD54-like 2 (S. cerevisiae)							99	84	89					3																	51673507		2203	4300	6503	SO:0001583	missense	23132					nucleus	ATP binding|DNA binding|helicase activity	g.chr3:51673507G>A	AB018352	CCDS33765.2	3p21.2	2006-01-17			ENSG00000164080	ENSG00000164080			29123	protein-coding gene	gene with protein product						9872452	Standard	NM_015106		Approved	KIAA0809, SRISNF2L	uc011bdt.2	Q9Y4B4	OTTHUMG00000152936	ENST00000409535.2:c.1933G>A	3.37:g.51673507G>A	ENSP00000386520:p.Val645Met					RAD54L2_ENST00000296477.3_Missense_Mutation_p.V339M	p.V645M	NM_015106.2	NP_055921.2	Q9Y4B4	ARIP4_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000102)|Kidney(197;0.000758)|KIRC - Kidney renal clear cell carcinoma(197;0.000896)	12	2058	+			645					Q8TB57|Q9BV54	Missense_Mutation	SNP	ENST00000409535.2	37	c.1933G>A	CCDS33765.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.05|16.05	3.011857|3.011857	0.54468|0.54468	.|.	.|.	ENSG00000164080|ENSG00000164080	ENST00000432863|ENST00000409535;ENST00000296477	.|T;T	.|0.76060	.|-0.99;-0.99	5.48|5.48	5.48|5.48	0.80851|0.80851	.|.	.|0.062950	.|0.64402	.|D	.|0.000004	T|T	0.78413|0.78413	0.4279|0.4279	L|L	0.44542|0.44542	1.39|1.39	0.54753|0.54753	D|D	0.999987|0.999987	.|D;D	.|0.63880	.|0.993;0.993	.|P;P	.|0.54431	.|0.752;0.669	T|T	0.78226|0.78226	-0.2286|-0.2286	5|10	.|0.48119	.|T	.|0.1	-13.0501|-13.0501	18.6879|18.6879	0.91571|0.91571	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|645;236	.|Q9Y4B4;B3KV54	.|ARIP4_HUMAN;.	H|M	473|645;339	.|ENSP00000386520:V645M;ENSP00000296477:V339M	.|ENSP00000296477:V339M	R|V	+|+	2|1	0|0	RAD54L2|RAD54L2	51648547|51648547	1.000000|1.000000	0.71417|0.71417	0.991000|0.991000	0.47740|0.47740	0.936000|0.936000	0.57629|0.57629	6.933000|6.933000	0.75874|0.75874	2.719000|2.719000	0.93026|0.93026	0.655000|0.655000	0.94253|0.94253	CGT|GTG		0.557	RAD54L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328700.2	NM_015106		9	27	0	0	0	1	0	9	27					A	51673507	G	A	51673507	3	1	415	1	0	0	0	0	1	0	0	0	12994	1145	40	1	1975	1	RAD54L2	3	51673507	Missense_Mutation	SNP	G	TCGA-VP-A87C-01A-11D-A34U-08		51673507	146348923	7	20118											
TRAT1	50852	broad.mit.edu	37	chr3	108572602	108572602	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tacatgcaatagatgccagcGtttctaagaccaccttagta	13	11	7	10	1	1	2	0	0	1	2	1	2	1	2	3	0	4	3	3	0	6	6	rs142175794		TCGA-VP-A87C-01A-11D-A34U-08	TCGA-VP-A87C-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9a3cde7-512a-4a9a-ba0c-3f630f015fb3	d76bd858-d1bd-40a1-9abf-4015860fd89b	g.chr3:108572602G>A	ENST00000295756.6	+	6	669	c.439G>A	c.(439-441)Gtt>Att	p.V147I	TRAT1_ENST00000426646.1_Missense_Mutation_p.V110I	NM_016388.2	NP_057472.2	Q6PIZ9	TRAT1_HUMAN	T cell receptor associated transmembrane adaptor 1	147					cellular defense response (GO:0006968)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|negative regulation of receptor recycling (GO:0001920)|negative regulation of transport (GO:0051051)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of T cell receptor signaling pathway (GO:0050862)|signal transduction (GO:0007165)|T cell receptor signaling pathway (GO:0050852)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|T cell receptor complex (GO:0042101)	transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)			endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(3)	28						AGATGCCAGCGTTTCTAAGAC	0.458													G|||	1	0.000199681	8e-04	0	5008	,	,		20417	0		0	False		,,,				2504	0					ENST00000295756.6																			0				endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(3)	28						c.(439-441)Gtt>Att		T cell receptor associated transmembrane adaptor 1		G	ILE/VAL	9,4397	15.5+/-35.6	0,9,2194	97	91	93		439	-10.6	0	3	dbSNP_134	93	0,8600		0,0,4300	yes	missense	TRAT1	NM_016388.2	29	0,9,6494	AA,AG,GG		0.0,0.2043,0.0692	benign	147/187	108572602	9,12997	2203	4300	6503	SO:0001583	missense	50852				cellular defense response|negative regulation of receptor recycling|negative regulation of transport|positive regulation of calcium-mediated signaling|positive regulation of T cell receptor signaling pathway|T cell receptor signaling pathway	integral to plasma membrane|T cell receptor complex	phosphatidylinositol-4,5-bisphosphate 3-kinase activity|transmembrane receptor protein tyrosine kinase adaptor activity	g.chr3:108572602G>A	AJ240084	CCDS33813.1	3q13	2005-05-04	2005-05-04	2005-05-04	ENSG00000163519	ENSG00000163519			30698	protein-coding gene	gene with protein product		604962	"T cell receptor interacting molecule"	TCRIM		10663578, 9687533	Standard	NM_016388		Approved	HSPC062, TRIM	uc003dxi.1	Q6PIZ9	OTTHUMG00000159198	ENST00000295756.6:c.439G>A	3.37:g.108572602G>A	ENSP00000295756:p.Val147Ile					TRAT1_ENST00000426646.1_Missense_Mutation_p.V110I	p.V147I	NM_016388.2	NP_057472.2	Q6PIZ9	TRAT1_HUMAN			6	669	+			147					Q9NZX5	Missense_Mutation	SNP	ENST00000295756.6	37	c.439G>A	CCDS33813.1	.	.	.	.	.	.	.	.	.	.	G	9.607	1.130369	0.21041	0.002043	0.0	ENSG00000163519	ENST00000295756;ENST00000426646	T;T	0.36157	1.27;1.41	5.85	-10.6	0.00265	.	1.763740	0.02509	N	0.091292	T	0.22085	0.0532	N	0.22421	0.69	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.01281	0.0;0.0	T	0.13495	-1.0507	10	0.33940	T	0.23	-25.2205	12.3914	0.55360	0.1463:0.3351:0.5187:0.0	.	110;147	C9JF66;Q6PIZ9	.;TRAT1_HUMAN	I	147;110	ENSP00000295756:V147I;ENSP00000410097:V110I	ENSP00000295756:V147I	V	+	1	0	TRAT1	110055292	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.815000	0.04481	-1.315000	0.02297	-0.982000	0.02568	GTT		0.458	TRAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353794.1	NM_016388		8	53	0	0	0	1	0	8	53					A	108572602	G	A	108572602	3	1	415	1	0	0	0	0	1	0	0	0	16463	1145	40	1	461	1	TRAT1	3	108572602	Missense_Mutation	SNP	G	TCGA-VP-A87C-01A-11D-A34U-08	56899095	108572602	89449828	8	20119											
ADAMTS3	9508	broad.mit.edu	37	chr4	73186558	73186558	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acattctccaagcttctggaTgggtttcccctttctatgag	7	15	8	11	0	3	1	0	1	3	0	5	2	4	2	3	2	1	2	3	2	2	5			TCGA-VP-A87C-01A-11D-A34U-08	TCGA-VP-A87C-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9a3cde7-512a-4a9a-ba0c-3f630f015fb3	d76bd858-d1bd-40a1-9abf-4015860fd89b	g.chr4:73186558T>A	ENST00000286657.4	-	7	1011	c.975A>T	c.(973-975)ccA>ccT	p.P325P	RP11-373J21.1_ENST00000503918.1_RNA	NM_014243.2	NP_055058.2	O15072	ATS3_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 3	325	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular fibril organization (GO:0043206)|extracellular matrix organization (GO:0030198)|positive regulation of vascular endothelial growth factor signaling pathway (GO:1900748)|protein processing (GO:0016485)|vascular endothelial growth factor production (GO:0010573)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	endopeptidase activity (GO:0004175)|heparin binding (GO:0008201)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	76			Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			AGCTTCTGGATGGGTTTCCCC	0.438																																					NSCLC(168;1941 2048 2918 13048 43078)	ENST00000286657.4																			0				NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	76						c.(973-975)ccA>ccT		ADAM metallopeptidase with thrombospondin type 1 motif, 3							138	130	133					4																	73186558		2203	4300	6503	SO:0001819	synonymous_variant	9508				collagen catabolic process|collagen fibril organization|proteolysis	proteinaceous extracellular matrix	heparin binding|metalloendopeptidase activity|zinc ion binding	g.chr4:73186558T>A	AB002364	CCDS3553.1	4q21	2008-07-29	2005-08-19		ENSG00000156140	ENSG00000156140	3.4.24.-	"ADAM metallopeptidases with thrombospondin type 1 motif"	219	protein-coding gene	gene with protein product		605011	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 3"			10094461	Standard	NM_014243		Approved	KIAA0366, ADAMTS-4	uc003hgk.2	O15072	OTTHUMG00000129912	ENST00000286657.4:c.975A>T	4.37:g.73186558T>A							p.P325P	NM_014243.2	NP_055058.2	O15072	ATS3_HUMAN	Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		7	1011	-			325			Peptidase M12B.		A1L3U9|Q9BXZ8	Silent	SNP	ENST00000286657.4	37	c.975A>T	CCDS3553.1																																																																																				0.438	ADAMTS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252164.2			13	48	0	0	0	1	0	13	48					A	73186558	T	A	73186558	2	1	415	1	0	0	0	0	0	0	0	1	267	1451	51	5		5	ADAMTS3	4	73186558	Silent	SNP	T	TCGA-VP-A87C-01A-11D-A34U-08		73186558	117967718	9	20120											
CCNI	10983	broad.mit.edu	37	chr4	77969728	77969728	+	Frame_Shift_Del	DEL	A	A	-																															cttgaggggacggtagacatAaacggaattcagaggcaggg																										TCGA-VP-A87C-01A-11D-A34U-08	TCGA-VP-A87C-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9a3cde7-512a-4a9a-ba0c-3f630f015fb3	d76bd858-d1bd-40a1-9abf-4015860fd89b	g.chr4:77969728delA	ENST00000237654.4	-	7	1354	c.778delT	c.(778-780)tatfs	p.Y260fs	CCNI_ENST00000537948.1_Frame_Shift_Del_p.Y246fs	NM_006835.2	NP_006826.1	Q14094	CCNI_HUMAN	cyclin I	260					regulation of cell cycle (GO:0051726)|spermatogenesis (GO:0007283)					NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)	9						CGGTAGACATAAACGGAATTC	0.527																																						ENST00000237654.4																			0				NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)	9						c.(778-780)atfs		cyclin I							91	84	86					4																	77969728		2203	4300	6503	SO:0001589	frameshift_variant	10983				spermatogenesis			g.chr4:77969728delA	D50310	CCDS3580.1	4q21.1	2014-07-03			ENSG00000118816	ENSG00000118816			1595	protein-coding gene	gene with protein product						7493655	Standard	NM_006835		Approved	CCNI1	uc003hkm.3	Q14094	OTTHUMG00000130106	ENST00000237654.4:c.778delT	4.37:g.77969728delA	ENSP00000237654:p.Tyr260fs					CCNI_ENST00000537948.1_Frame_Shift_Del_p.Y246fs	p.Y260fs	NM_006835.2	NP_006826.1	Q14094	CCNI_HUMAN			7	1354	-			260					B2R6M0|B7Z6X4	Frame_Shift_Del	DEL	ENST00000237654.4	37	c.778delT	CCDS3580.1																																																																																				0.527	CCNI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252412.2	NM_006835		9	54						9	54	---	---	---	---	-	77969728	A	-	77969728	7	5	415	1	0	1	0	1	0	0	0	0	2926	362	13	0	359	0	CCNI	4	77969728	Frame_Shift_Del	DEL	A	TCGA-VP-A87C-01A-11D-A34U-08	4783170	77969728	113184548	10	20121											
C4orf51	646603	broad.mit.edu	37	chr4	146601486	146601486	+	Frame_Shift_Del	DEL	C	C	-																															aacacgatggtcagattcttCcgtgacaacatacacaggca																										TCGA-VP-A87C-01A-11D-A34U-08	TCGA-VP-A87C-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9a3cde7-512a-4a9a-ba0c-3f630f015fb3	d76bd858-d1bd-40a1-9abf-4015860fd89b	g.chr4:146601486delC	ENST00000438731.1	+	1	131	c.131delC	c.(130-132)tccfs	p.S44fs		NM_001080531.1	NP_001074000.1	C9J302	CD051_HUMAN	chromosome 4 open reading frame 51	44										haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(4)	6						TCAGATTCTTCCGTGACAACA	0.458																																						ENST00000438731.1																			0				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(4)	6						c.(130-132)tcfs		chromosome 4 open reading frame 51							141	134	136					4																	146601486		1952	4153	6105	SO:0001589	frameshift_variant	646603							g.chr4:146601486delC		CCDS47140.1	4q31.21	2009-09-09			ENSG00000237136	ENSG00000237136			37264	protein-coding gene	gene with protein product							Standard	NM_001080531		Approved		uc003ikk.3	C9J302	OTTHUMG00000161367	ENST00000438731.1:c.131delC	4.37:g.146601486delC	ENSP00000391404:p.Ser44fs						p.S44fs	NM_001080531.1	NP_001074000.1	C9J302	CD051_HUMAN			1	131	+			44						Frame_Shift_Del	DEL	ENST00000438731.1	37	c.131delC	CCDS47140.1																																																																																				0.458	C4orf51-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001080531		19	94						19	94	---	---	---	---	-	146601486	C	-	146601486	7	5	415	1	0	1	0	1	0	0	0	0	2277	855	30	0	133	0	C4orf51	4	146601486	Frame_Shift_Del	DEL	C	TCGA-VP-A87C-01A-11D-A34U-08	68631758	146601486	44552790	11	20122											
LIFR	3977	broad.mit.edu	37	chr5	38482128	38482129	+	Frame_Shift_Ins	INS	-	-	A																															gggtttggtatttcttcctcINSaatgatgggtggacaatagg																										TCGA-VP-A87C-01A-11D-A34U-08	TCGA-VP-A87C-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9a3cde7-512a-4a9a-ba0c-3f630f015fb3	d76bd858-d1bd-40a1-9abf-4015860fd89b	g.chr5:38482128_38482129insA	ENST00000263409.4	-	20	3024_3025	c.2862_2863insT	c.(2860-2865)attgagfs	p.E955fs	LIFR_ENST00000453190.2_Frame_Shift_Ins_p.E955fs	NM_002310.5	NP_002301.1	P42702	LIFR_HUMAN	leukemia inhibitory factor receptor alpha	955					cell surface receptor signaling pathway (GO:0007166)|ciliary neurotrophic factor-mediated signaling pathway (GO:0070120)|cytokine-mediated signaling pathway (GO:0019221)|leukemia inhibitory factor signaling pathway (GO:0048861)|oncostatin-M-mediated signaling pathway (GO:0038165)|positive regulation of cell proliferation (GO:0008284)|response to cytokine (GO:0034097)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	ciliary neurotrophic factor receptor binding (GO:0005127)|growth factor binding (GO:0019838)|leukemia inhibitory factor receptor activity (GO:0004923)			NS(2)|breast(4)|endometrium(6)|kidney(2)|large_intestine(30)|liver(2)|lung(21)|ovary(3)|skin(5)|stomach(1)|urinary_tract(2)	78	all_lung(31;0.00021)					ATTTCTTCCTCAATGATGGGTG	0.46			T	PLAG1	salivary adenoma																																Melanoma(13;4 730 6426 9861 34751)	ENST00000263409.4				Dom	yes		5	5p13-p12	3977	T	leukemia inhibitory factor receptor			E	PLAG1		salivary adenoma		0				NS(2)|breast(4)|endometrium(6)|kidney(2)|large_intestine(30)|liver(2)|lung(21)|ovary(3)|skin(5)|stomach(1)|urinary_tract(2)	78						c.(2860-2865)ataggafs		leukemia inhibitory factor receptor alpha																																				SO:0001589	frameshift_variant	3977				positive regulation of cell proliferation	extracellular region|integral to plasma membrane	ciliary neurotrophic factor receptor binding|growth factor binding|leukemia inhibitory factor receptor activity	g.chr5:38482128_38482129insA	X61615	CCDS3927.1	5p13-p12	2013-02-11	2006-05-17		ENSG00000113594	ENSG00000113594		"CD molecules", "Fibronectin type III domain containing"	6597	protein-coding gene	gene with protein product		151443	"leukemia inhibitory factor receptor"			1915266	Standard	NM_001127671		Approved	CD118	uc003jli.2	P42702	OTTHUMG00000131138	ENST00000263409.4:c.2863dupT	5.37:g.38482130_38482130dupA	ENSP00000263409:p.Glu955fs					LIFR_ENST00000453190.2_Frame_Shift_Ins_p.G955fs	p.G955fs	NM_002310.5	NP_002301.1	P42702	LIFR_HUMAN			20	3024_3025	-	all_lung(31;0.00021)		955					Q6LCD9	Frame_Shift_Ins	INS	ENST00000263409.4	37	c.2862_2863insT	CCDS3927.1																																																																																				0.46	LIFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253823.1	NM_002310		7	162						7	162	---	---	---	---	A	38482129	-	A	38482128	7	5	415	1	0	1	1	0	0	0	0	0	8780	835	29	0	434	0	LIFR	5	38482128	Frame_Shift_Ins	INS	-	TCGA-VP-A87C-01A-11D-A34U-08		38482128	142433132	12	20123											
CMYA5	202333	broad.mit.edu	37	chr5	79027136	79027136	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	catcttccccagatttggttGttgcatctgaacactctttc	7	16	6	12	0	3	2	0	1	3	1	5	2	4	2	2	1	2	3	2	1	1	5			TCGA-VP-A87C-01A-11D-A34U-08	TCGA-VP-A87C-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9a3cde7-512a-4a9a-ba0c-3f630f015fb3	d76bd858-d1bd-40a1-9abf-4015860fd89b	g.chr5:79027136G>T	ENST00000446378.2	+	2	2579	c.2548G>T	c.(2548-2550)Gtt>Ttt	p.V850F		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	850					negative regulation of calcineurin-NFAT signaling cascade (GO:0070885)|negative regulation of protein phosphatase type 2B activity (GO:0032513)|regulation of skeletal muscle adaptation (GO:0014733)	costamere (GO:0043034)				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		AGATTTGGTTGTTGCATCTGA	0.478																																						ENST00000446378.2																			0				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128						c.(2548-2550)Gtt>Ttt		cardiomyopathy associated 5							92	91	91					5																	79027136		1984	4153	6137	SO:0001583	missense	202333					perinuclear region of cytoplasm		g.chr5:79027136G>T	AW755254, AL831986	CCDS47238.1	5q14.1	2013-02-11			ENSG00000164309	ENSG00000164309		"Tripartite motif containing / Tripartite motif containing", "A-kinase anchor proteins", "Fibronectin type III domain containing"	14305	protein-coding gene	gene with protein product	"genethonin-3", "tripartite motif-containing 76"	612193	"chromosome 5 open reading frame 10"	C5orf10		14688250	Standard	NM_153610		Approved	myospryn, SPRYD2, DKFZp451G223, TRIM76	uc003kgc.3	Q8N3K9	OTTHUMG00000162548	ENST00000446378.2:c.2548G>T	5.37:g.79027136G>T	ENSP00000394770:p.Val850Phe						p.V850F	NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)	2	2579	+		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)	850					A0PJB7|Q05CT4|Q2NKX1|Q2T9G9|Q69YQ8|Q69YQ9|Q6P517|Q6P5U3|Q7Z4I1|Q86T34|Q86T49|Q8N3S4|Q8N3S7|Q8NAG8|Q9UK88	Missense_Mutation	SNP	ENST00000446378.2	37	c.2548G>T	CCDS47238.1	.	.	.	.	.	.	.	.	.	.	G	10.13	1.265285	0.23136	.	.	ENSG00000164309	ENST00000446378	T	0.25912	1.77	4.87	-8.62	0.00881	.	1.821840	0.02537	N	0.094185	T	0.07413	0.0187	N	0.01874	-0.695	0.09310	N	1	P	0.48230	0.907	B	0.39935	0.314	T	0.38993	-0.9635	10	0.62326	D	0.03	.	1.8386	0.03145	0.2093:0.3493:0.1144:0.327	.	850	Q8N3K9	CMYA5_HUMAN	F	850	ENSP00000394770:V850F	ENSP00000394770:V850F	V	+	1	0	CMYA5	79062892	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.814000	0.01723	-1.783000	0.01274	-2.211000	0.00300	GTT		0.478	CMYA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369497.1	NM_153610		5	58	1	0	0.248553	1	0.248553	5	58					T	79027136	G	T	79027136	3	4	415	1	0	0	0	0	1	0	0	0	3590	1377	48	5	2554	5	CMYA5	5	79027136	Missense_Mutation	SNP	G	TCGA-VP-A87C-01A-11D-A34U-08	40545008	79027136	101888124	13	20124											
SLC25A27	9481	broad.mit.edu	37	chr6	46637938	46637938	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcatcaaaagcagaataatGaatcaaccacgagataaaca	21	6	6	8	1	3	3	3	1	0	2	3	4	3	3	1	0	3	1	1	0	8	2			TCGA-VP-A87C-01A-11D-A34U-08	TCGA-VP-A87C-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9a3cde7-512a-4a9a-ba0c-3f630f015fb3	d76bd858-d1bd-40a1-9abf-4015860fd89b	g.chr6:46637938G>T	ENST00000371347.5	+	7	1023	c.771G>T	c.(769-771)atG>atT	p.M257I	RP11-446F17.3_ENST00000571590.1_RNA|SLC25A27_ENST00000604908.1_3'UTR|SLC25A27_ENST00000452689.2_Missense_Mutation_p.M171I|SLC25A27_ENST00000411689.2_Intron|RP11-446F17.3_ENST00000422284.2_RNA|RP11-446F17.3_ENST00000434329.2_RNA	NM_001204051.1|NM_004277.4	NP_001190980.1|NP_004268.3	O95847	UCP4_HUMAN	solute carrier family 25, member 27	257					cellular triglyceride homeostasis (GO:0035356)|generation of precursor metabolites and energy (GO:0006091)|inner ear development (GO:0048839)|negative regulation of apoptotic process (GO:0043066)|negative regulation of mitochondrial calcium ion concentration (GO:0051562)|negative regulation of mitochondrial membrane potential (GO:0010917)|neuron death (GO:0070997)|positive regulation of cell proliferation (GO:0008284)|regulation of glucose import (GO:0046324)|transport (GO:0006810)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)				central_nervous_system(1)|kidney(1)|lung(4)|prostate(1)|urinary_tract(1)	8			Lung(136;0.192)			GCAGAATAATGAATCAACCAC	0.348																																						ENST00000371347.5																			0				central_nervous_system(1)|kidney(1)|lung(4)|prostate(1)|urinary_tract(1)	8						c.(769-771)atG>atT		solute carrier family 25, member 27							75	71	72					6																	46637938		1827	4085	5912	SO:0001583	missense	9481				generation of precursor metabolites and energy|transport	integral to membrane|mitochondrial inner membrane		g.chr6:46637938G>T	AK090871	CCDS43470.1, CCDS56431.1	6p12.3	2013-05-22			ENSG00000153291	ENSG00000153291		"Solute carriers"	21065	protein-coding gene	gene with protein product		613725				10025957, 10772343	Standard	NM_004277		Approved	UCP4, FLJ33552	uc003oyh.3	O95847	OTTHUMG00000014786	ENST00000371347.5:c.771G>T	6.37:g.46637938G>T	ENSP00000360398:p.Met257Ile					SLC25A27_ENST00000604908.1_3'UTR|SLC25A27_ENST00000411689.2_Intron|SLC25A27_ENST00000452689.2_Missense_Mutation_p.M171I	p.M257I	NM_001204051.1|NM_004277.4	NP_001190980.1|NP_004268.3	O95847	UCP4_HUMAN	Lung(136;0.192)		7	1023	+			257					F5GWR4|Q5VTS9|Q8N518	Missense_Mutation	SNP	ENST00000371347.5	37	c.771G>T	CCDS43470.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	G|G|G	27.9|27.9|27.9	4.869822|4.869822|4.869822	0.91587|0.91587|0.91587	.|.|.	.|.|.	ENSG00000153291|ENSG00000153291|ENSG00000153291	ENST00000444329|ENST00000371347;ENST00000355073;ENST00000452689|ENST00000417490	.|T;T|.	.|0.78816|.	.|-1.21;-1.21|.	5.72|5.72|5.72	5.72|5.72|5.72	0.89469|0.89469|0.89469	.|Mitochondrial carrier domain (2);|.	.|0.097175|.	.|0.64402|.	.|D|.	.|0.000003|.	.|D|.	.|0.83403|.	.|0.5247|.	M|M|M	0.91510|0.91510|0.91510	3.215|3.215|3.215	0.58432|0.58432|0.58432	D|D|D	0.999999|0.999999|0.999999	.|D;D;D|.	.|0.89917|.	.|1.0;1.0;1.0|.	.|D;D;D|.	.|0.97110|.	.|0.999;1.0;1.0|.	.|D|.	.|0.86424|.	.|0.1756|.	.|10|.	.|0.66056|.	.|D|.	.|0.02|.	-19.7912|-19.7912|-19.7912	17.3513|17.3513|17.3513	0.87324|0.87324|0.87324	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.|.	.|171;257;257|.	.|B4DZG4;Q5VTS9;O95847|.	.|.;.;UCP4_HUMAN|.	X|I|L	102|257;101;171|55	.|ENSP00000360398:M257I;ENSP00000412223:M171I|.	.|ENSP00000347185:M101I|.	E|M|X	+|+|+	1|3|2	0|0|2	SLC25A27|SLC25A27|SLC25A27	46745897|46745897|46745897	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.998000|0.998000|0.998000	0.95712|0.95712|0.95712	7.017000|7.017000|7.017000	0.76399|0.76399|0.76399	2.698000|2.698000|2.698000	0.92095|0.92095|0.92095	0.655000|0.655000|0.655000	0.94253|0.94253|0.94253	GAA|ATG|TGA		0.348	SLC25A27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040791.1	NM_004277		4	58	1	0	0.150653	1	0.158186	4	58					T	46637938	G	T	46637938	3	4	415	1	0	0	0	0	1	0	0	0	14490	1290	45	5	797	5	SLC25A27	6	46637938	Missense_Mutation	SNP	G	TCGA-VP-A87C-01A-11D-A34U-08		46637938	124477129	14	20125											
GSTA2	2939	broad.mit.edu	37	chr6	52619834	52619834	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gcaccagcttcatcccatcaAtctcaaccattggcacttgc	10	10	5	16	0	3	0	3	0	1	0	5	0	4	0	3	1	3	3	3	1	2	3			TCGA-VP-A87C-01A-11D-A34U-08	TCGA-VP-A87C-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9a3cde7-512a-4a9a-ba0c-3f630f015fb3	d76bd858-d1bd-40a1-9abf-4015860fd89b	g.chr6:52619834A>G	ENST00000493422.1	-	4	334	c.179T>C	c.(178-180)aTt>aCt	p.I60T		NM_000846.4	NP_000837.3	P09210	GSTA2_HUMAN	glutathione S-transferase alpha 2	60	GST N-terminal.				epithelial cell differentiation (GO:0030855)|glutathione derivative biosynthetic process (GO:1901687)|glutathione metabolic process (GO:0006749)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	glutathione transferase activity (GO:0004364)			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16	Lung NSC(77;0.118)				Azathioprine(DB00993)|Busulfan(DB01008)|Chloroquine(DB00608)|Clofibrate(DB00636)|Ethacrynic acid(DB00903)|Glutathione(DB00143)|Vitamin E(DB00163)	CATCCCATCAATCTCAACCAT	0.428																																						ENST00000493422.1																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						c.(178-180)aTt>aCt		glutathione S-transferase alpha 2	Aminophenazone(DB01424)|Amsacrine(DB00276)|Busulfan(DB01008)|Chlorambucil(DB00291)|Chloroquine(DB00608)|Cinnarizine(DB00568)|Clofibrate(DB00636)|Ethacrynic acid(DB00903)|Glutathione(DB00143)|Mechlorethamine(DB00888)|Praziquantel(DB01058)|Vitamin E(DB00163)						124	123	124					6																	52619834		2203	4298	6501	SO:0001583	missense	2939				glutathione metabolic process|xenobiotic metabolic process	cytosol	glutathione transferase activity	g.chr6:52619834A>G	AL109918	CCDS4944.1	6p12.2	2012-06-21	2008-11-26		ENSG00000244067	ENSG00000244067	2.5.1.18	"Glutathione S-transferases / Soluble"	4627	protein-coding gene	gene with protein product		138360	"glutathione S-transferase A2"	GST2			Standard	NM_000846		Approved		uc003pay.3	P09210	OTTHUMG00000016263	ENST00000493422.1:c.179T>C	6.37:g.52619834A>G	ENSP00000420168:p.Ile60Thr						p.I60T	NM_000846.4	NP_000837.3	P09210	GSTA2_HUMAN			4	334	-	Lung NSC(77;0.118)		60			GST N-terminal.		Q12759|Q16491|Q9NTY6	Missense_Mutation	SNP	ENST00000493422.1	37	c.179T>C	CCDS4944.1	.	.	.	.	.	.	.	.	.	.	a	17.17	3.322239	0.60634	.	.	ENSG00000244067	ENST00000493422	T	0.07327	3.2	3.64	3.64	0.41730	Glutathione S-transferase, N-terminal (2);Thioredoxin-like fold (2);	0.000000	0.85682	D	0.000000	T	0.23727	0.0574	M	0.85945	2.785	0.53005	D	0.999968	P	0.35774	0.519	D	0.67231	0.95	T	0.00448	-1.1733	10	0.66056	D	0.02	.	11.322	0.49428	1.0:0.0:0.0:0.0	.	60	P09210	GSTA2_HUMAN	T	60	ENSP00000420168:I60T	ENSP00000420168:I60T	I	-	2	0	GSTA2	52727793	1.000000	0.71417	0.997000	0.53966	0.846000	0.48090	8.301000	0.89951	1.310000	0.45006	0.254000	0.18369	ATT		0.428	GSTA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043589.1	NM_000846		10	182	0	0	0	1	0	10	182					G	52619834	A	G	52619834	3	3	415	1	0	0	0	0	1	0	0	0	6831	101	4	4	505	4	GSTA2	6	52619834	Missense_Mutation	SNP	A	TCGA-VP-A87C-01A-11D-A34U-08	5981896	52619834	118495233	15	20126											
HTR1E	3354	broad.mit.edu	37	chr6	87725488	87725488	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgcgctgatgatccttaccGtctggaccatctccattttc	6	13	7	15	3	2	2	0	2	2	0	5	3	3	3	5	1	1	1	5	1	1	3	rs200719637		TCGA-VP-A87C-01A-11D-A34U-08	TCGA-VP-A87C-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9a3cde7-512a-4a9a-ba0c-3f630f015fb3	d76bd858-d1bd-40a1-9abf-4015860fd89b	g.chr6:87725488G>A	ENST00000305344.5	+	2	1139	c.436G>A	c.(436-438)Gtc>Atc	p.V146I		NM_000865.2	NP_000856.1	P28566	5HT1E_HUMAN	5-hydroxytryptamine (serotonin) receptor 1E, G protein-coupled	146					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|negative regulation of cAMP metabolic process (GO:0030815)|serotonin receptor signaling pathway (GO:0007210)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)	p.V146I(2)		breast(3)|endometrium(2)|kidney(3)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(3)	41		all_cancers(76;7.11e-06)|Acute lymphoblastic leukemia(125;1.2e-09)|Prostate(29;3.51e-09)|all_hematologic(105;7.43e-06)|all_epithelial(107;0.00819)		BRCA - Breast invasive adenocarcinoma(108;0.055)	Aripiprazole(DB01238)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Ketamine(DB01221)|Loxapine(DB00408)|Methysergide(DB00247)|Olanzapine(DB00334)|Quetiapine(DB01224)|Ziprasidone(DB00246)	GATCCTTACCGTCTGGACCAT	0.582																																						ENST00000305344.4																			2	Substitution - Missense(2)	p.V146I(2)	large_intestine(1)|endometrium(1)	breast(3)|endometrium(2)|kidney(3)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(3)	41						c.(436-438)Gtc>Atc		5-hydroxytryptamine (serotonin) receptor 1E, G protein-coupled	Eletriptan(DB00216)						108	94	99					6																	87725488		2203	4300	6503	SO:0001583	missense	3354				G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	protein binding|serotonin binding|serotonin receptor activity	g.chr6:87725488G>A		CCDS5006.1	6q14-q15	2013-06-19	2012-02-03		ENSG00000168830	ENSG00000168830		"5-HT (serotonin) receptors", "GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"	5291	protein-coding gene	gene with protein product		182132	"5-hydroxytryptamine (serotonin) receptor 1E"			1608964	Standard	NM_000865		Approved	5-HT1E	uc003pli.3	P28566	OTTHUMG00000015154	ENST00000305344.5:c.436G>A	6.37:g.87725488G>A	ENSP00000307766:p.Val146Ile					HTR1E_ENST00000369584.1_Missense_Mutation_p.V146I	p.V146I	NM_000865.2	NP_000856.1	P28566	5HT1E_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.055)	2	1139	+		all_cancers(76;7.11e-06)|Acute lymphoblastic leukemia(125;1.2e-09)|Prostate(29;3.51e-09)|all_hematologic(105;7.43e-06)|all_epithelial(107;0.00819)	146					E1P503|Q9P1Y1	Missense_Mutation	SNP	ENST00000305344.5	37	c.436G>A	CCDS5006.1	.	.	.	.	.	.	.	.	.	.	G	18.52	3.640966	0.67244	.	.	ENSG00000168830	ENST00000305344;ENST00000369584	T;T	0.73152	-0.72;-0.72	4.26	4.26	0.50523	GPCR, rhodopsin-like superfamily (1);	0.000000	0.52532	U	0.000069	T	0.78477	0.4289	M	0.69358	2.11	0.44834	D	0.997845	D	0.76494	0.999	D	0.68483	0.958	T	0.82133	-0.0608	10	0.72032	D	0.01	.	16.6564	0.85229	0.0:0.0:1.0:0.0	.	146	P28566	5HT1E_HUMAN	I	146	ENSP00000307766:V146I;ENSP00000358597:V146I	ENSP00000307766:V146I	V	+	1	0	HTR1E	87782207	1.000000	0.71417	0.986000	0.45419	0.941000	0.58515	7.241000	0.78201	1.929000	0.55896	0.404000	0.27445	GTC		0.582	HTR1E-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000472488.2	NM_000865		11	26	0	0	0	1	0	11	26					A	87725488	G	A	87725488	3	1	415	1	0	0	0	0	1	0	0	0	7439	1145	40	1	438	1	HTR1E	6	87725488	Missense_Mutation	SNP	G	TCGA-VP-A87C-01A-11D-A34U-08	35105654	87725488	83389579	16	20127											
PLOD3	8985	broad.mit.edu	37	chr7	100859736	100859736	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcccggtcagcgtatttcTccatttccttctttaaccac	6	15	4	16	2	3	0	1	0	2	0	6	0	5	0	5	1	2	1	5	1	2	6			TCGA-VP-A87C-01A-11D-A34U-08	TCGA-VP-A87C-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9a3cde7-512a-4a9a-ba0c-3f630f015fb3	d76bd858-d1bd-40a1-9abf-4015860fd89b	g.chr7:100859736T>C	ENST00000223127.3	-	3	691	c.293A>G	c.(292-294)gAg>gGg	p.E98G	ZNHIT1_ENST00000305105.2_5'Flank	NM_001084.4	NP_001075.1	O60568	PLOD3_HUMAN	procollagen-lysine, 2-oxoglutarate 5-dioxygenase 3	98					basement membrane assembly (GO:0070831)|cellular protein modification process (GO:0006464)|cellular response to hormone stimulus (GO:0032870)|collagen fibril organization (GO:0030199)|endothelial cell morphogenesis (GO:0001886)|epidermis morphogenesis (GO:0048730)|extracellular matrix organization (GO:0030198)|in utero embryonic development (GO:0001701)|lung morphogenesis (GO:0060425)|neural tube development (GO:0021915)|protein localization (GO:0008104)|vasodilation (GO:0042311)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|procollagen galactosyltransferase activity (GO:0050211)|procollagen glucosyltransferase activity (GO:0033823)|procollagen-lysine 5-dioxygenase activity (GO:0008475)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	31	Lung NSC(181;0.168)|all_lung(186;0.215)				Succinic acid(DB00139)|Vitamin C(DB00126)	AGCGTATTTCTCCATTTCCTT	0.567																																						ENST00000223127.3																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	31						c.(292-294)gAg>gGg		procollagen-lysine, 2-oxoglutarate 5-dioxygenase 3	Succinic acid(DB00139)|Vitamin C(DB00126)						205	187	193					7																	100859736		2203	4300	6503	SO:0001583	missense	8985				protein modification process	rough endoplasmic reticulum membrane	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein binding	g.chr7:100859736T>C	AF046889	CCDS5715.1	7q22.1	2011-08-24			ENSG00000106397	ENSG00000106397	1.14.11.4		9083	protein-coding gene	gene with protein product	"lysyl hydroxlase 3"	603066				9724729, 9582318	Standard	NM_001084		Approved	LH3	uc003uyd.3	O60568	OTTHUMG00000157111	ENST00000223127.3:c.293A>G	7.37:g.100859736T>C	ENSP00000223127:p.Glu98Gly						p.E98G	NM_001084.4	NP_001075.1	O60568	PLOD3_HUMAN			3	691	-	Lung NSC(181;0.168)|all_lung(186;0.215)		98					B2R6W6|Q540C3	Missense_Mutation	SNP	ENST00000223127.3	37	c.293A>G	CCDS5715.1	.	.	.	.	.	.	.	.	.	.	T	16.27	3.075800	0.55646	.	.	ENSG00000106397	ENST00000223127;ENST00000541462;ENST00000414785	T;T	0.26067	1.76;1.76	5.17	3.99	0.46301	.	0.550372	0.18532	N	0.138446	T	0.25344	0.0616	L	0.58428	1.81	0.42137	D	0.991499	B	0.14012	0.009	B	0.15484	0.013	T	0.05419	-1.0886	10	0.66056	D	0.02	-22.6964	8.172	0.31260	0.1785:0.0:0.0:0.8215	.	98	O60568	PLOD3_HUMAN	G	98;2;102	ENSP00000223127:E98G;ENSP00000407551:E102G	ENSP00000223127:E98G	E	-	2	0	PLOD3	100646456	0.999000	0.42202	0.991000	0.47740	0.401000	0.30781	1.511000	0.35801	0.791000	0.33826	0.402000	0.26972	GAG		0.567	PLOD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347470.1			11	38	0	0	0	1	0	11	38					C	100859736	T	C	100859736	3	2	415	1	0	0	0	0	1	0	0	0	12103	1551	54	4	1991	4	PLOD3	7	100859736	Missense_Mutation	SNP	T	TCGA-VP-A87C-01A-11D-A34U-08		100859736	58278927	17	20128											
OR9A4	130075	broad.mit.edu	37	chr7	141619260	141619260	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgcaataatactcttttcacGgagtttatcctcttcttaat	10	18	4	9	1	4	0	1	0	3	0	5	1	5	1	1	1	2	2	1	1	5	8			TCGA-VP-A87C-01A-11D-A34U-08	TCGA-VP-A87C-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9a3cde7-512a-4a9a-ba0c-3f630f015fb3	d76bd858-d1bd-40a1-9abf-4015860fd89b	g.chr7:141619260G>A	ENST00000548136.1	+	1	644	c.585G>A	c.(583-585)acG>acA	p.T195T	MGAM_ENST00000497554.1_Intron	NM_001001656.1	NP_001001656.1	Q8NGU2	OR9A4_HUMAN	olfactory receptor, family 9, subfamily A, member 4	195						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(2)|large_intestine(9)|lung(7)|prostate(1)|skin(2)	22	Melanoma(164;0.0171)					CTCTTTTCACGGAGTTTATCC	0.388																																						ENST00000548136.1																			0				NS(1)|endometrium(2)|large_intestine(9)|lung(7)|prostate(1)|skin(2)	22						c.(583-585)acG>acA		olfactory receptor, family 9, subfamily A, member 4							145	149	148					7																	141619260		2097	4263	6360	SO:0001819	synonymous_variant	130075				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr7:141619260G>A		CCDS43661.1	7q34	2012-10-03			ENSG00000258083	ENSG00000258083		"GPCR / Class A : Olfactory receptors"	15095	protein-coding gene	gene with protein product							Standard	NM_001001656		Approved		uc003vwu.1	Q8NGU2	OTTHUMG00000158370	ENST00000548136.1:c.585G>A	7.37:g.141619260G>A						MGAM_ENST00000497554.1_Intron	p.T195T	NM_001001656.1	NP_001001656.1	Q8NGU2	OR9A4_HUMAN			1	644	+	Melanoma(164;0.0171)		195					B9EGV6|Q6IFI4	Silent	SNP	ENST00000548136.1	37	c.585G>A	CCDS43661.1																																																																																				0.388	OR9A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350806.3	NM_001001656		19	137	0	0	0	1	0	19	137					A	141619260	G	A	141619260	2	1	415	1	0	0	0	0	0	0	0	1	11249	1103	39	2		2	OR9A4	7	141619260	Silent	SNP	G	TCGA-VP-A87C-01A-11D-A34U-08	40759524	141619260	17519403	18	20129											
OR56A3	390083	broad.mit.edu	37	chr11	5969418	5969418	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgatgtgccagtcttgctcaAtgttctccaccatgtcattc	7	15	7	12	0	4	1	2	1	2	0	6	1	4	1	3	0	2	2	3	0	1	3			TCGA-VP-A87C-01A-11D-A34U-08	TCGA-VP-A87C-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9a3cde7-512a-4a9a-ba0c-3f630f015fb3	d76bd858-d1bd-40a1-9abf-4015860fd89b	g.chr11:5969418A>G	ENST00000329564.6	+	1	849	c.842A>G	c.(841-843)aAt>aGt	p.N281S		NM_001003443.2	NP_001003443.2	Q8NH54	O56A3_HUMAN	olfactory receptor, family 56, subfamily A, member 3	281						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(27)|stomach(1)|upper_aerodigestive_tract(1)	41		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;9.41e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GTCTTGCTCAATGTTCTCCAC	0.478																																						ENST00000329564.6																			0				endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(27)|stomach(1)|upper_aerodigestive_tract(1)	41						c.(841-843)aAt>aGt		olfactory receptor, family 56, subfamily A, member 3							176	167	170					11																	5969418		2147	4269	6416	SO:0001583	missense	390083				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5969418A>G		CCDS41614.1	11p15.4	2012-08-09		2004-03-10	ENSG00000184478	ENSG00000184478		"GPCR / Class A : Olfactory receptors"	14786	protein-coding gene	gene with protein product				OR56A6, OR56A3P			Standard	NM_001003443		Approved		uc010qzt.2	Q8NH54	OTTHUMG00000165373	ENST00000329564.6:c.842A>G	11.37:g.5969418A>G	ENSP00000331572:p.Asn281Ser						p.N281S	NM_001003443.2	NP_001003443.2	Q8NH54	O56A3_HUMAN		Epithelial(150;9.41e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	849	+		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)	281					A6NN77|Q6IFF7	Missense_Mutation	SNP	ENST00000329564.6	37	c.842A>G	CCDS41614.1	.	.	.	.	.	.	.	.	.	.	A	14.53	2.562963	0.45694	.	.	ENSG00000184478	ENST00000329564	T	0.00016	9.12	5.06	5.06	0.68205	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000010	T	0.00241	0.0007	L	0.37507	1.11	0.29676	N	0.842114	D	0.89917	1.0	D	0.91635	0.999	T	0.60383	-0.7274	10	0.87932	D	0	-29.8695	10.1284	0.42663	0.8321:0.1679:0.0:0.0	.	281	Q8NH54	O56A3_HUMAN	S	281	ENSP00000331572:N281S	ENSP00000331572:N281S	N	+	2	0	OR56A3	5925994	0.103000	0.21917	0.997000	0.53966	0.685000	0.39939	1.990000	0.40717	2.159000	0.67721	0.514000	0.50259	AAT		0.478	OR56A3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383753.1	NM_001003443		27	93	0	0	0	1	0	27	93					G	5969418	A	G	5969418	3	3	415	1	0	0	0	0	1	0	0	0	11134	101	4	4	844	4	OR56A3	11	5969418	Missense_Mutation	SNP	A	TCGA-VP-A87C-01A-11D-A34U-08		5969418	129037098	19	20130											
BBS1	582	broad.mit.edu	37	chr11	66291318	66291318	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atggagaggtccgcatttatCgtgacaaggccctgctcaat	10	10	11	10	2	1	2	1	1	0	1	3	3	2	2	2	3	1	2	2	3	3	2			TCGA-VP-A87C-01A-11D-A34U-08	TCGA-VP-A87C-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9a3cde7-512a-4a9a-ba0c-3f630f015fb3	d76bd858-d1bd-40a1-9abf-4015860fd89b	g.chr11:66291318C>T	ENST00000318312.7	+	11	1126	c.1075C>T	c.(1075-1077)Cgt>Tgt	p.R359C	ZDHHC24_ENST00000526986.1_Intron|BBS1_ENST00000393994.2_Intron|CTD-3074O7.11_ENST00000419755.3_Missense_Mutation_p.R396C|BBS1_ENST00000455748.2_Missense_Mutation_p.R262C|BBS1_ENST00000529766.1_3'UTR	NM_024649.4	NP_078925.3	Q8NFJ9	BBS1_HUMAN	Bardet-Biedl syndrome 1	359					cilium assembly (GO:0042384)|Golgi to plasma membrane protein transport (GO:0043001)|nonmotile primary cilium assembly (GO:0035058)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|retina homeostasis (GO:0001895)|visual perception (GO:0007601)	BBSome (GO:0034464)|cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)	patched binding (GO:0005113)|RNA polymerase II repressing transcription factor binding (GO:0001103)|smoothened binding (GO:0005119)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|kidney(5)|large_intestine(5)|lung(5)|ovary(1)|prostate(2)|skin(2)|stomach(2)|urinary_tract(1)	28						CCGCATTTATCGTGACAAGGC	0.627									Bardet-Biedl syndrome																												GBM(152;173 2612 9770 10137)	ENST00000419755.3																			0											c.(1186-1188)Cgt>Tgt									61	58	59					11																	66291318		2200	4295	6495	SO:0001583	missense	0		Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome				g.chr11:66291318C>T	AF503941	CCDS8142.1	11q13	2013-01-08			ENSG00000174483	ENSG00000174483			966	protein-coding gene	gene with protein product		209901				9039982, 12567324	Standard	NM_024649		Approved	FLJ23590	uc001oij.1	Q8NFJ9	OTTHUMG00000167110	ENST00000318312.7:c.1075C>T	11.37:g.66291318C>T	ENSP00000317469:p.Arg359Cys					BBS1_ENST00000529766.1_3'UTR|BBS1_ENST00000318312.7_Missense_Mutation_p.R359C|BBS1_ENST00000455748.2_Missense_Mutation_p.R262C|ZDHHC24_ENST00000526986.1_Intron|BBS1_ENST00000393994.2_Intron	p.R396C							11	1264	+								Q32MM9|Q32MN0|Q96SN4	Missense_Mutation	SNP	ENST00000318312.7	37	c.1186C>T	CCDS8142.1	.	.	.	.	.	.	.	.	.	.	C	18.94	3.729825	0.69074	.	.	ENSG00000256349;ENSG00000174483;ENSG00000174483	ENST00000419755;ENST00000318312;ENST00000455748	T;T;T	0.59502	0.26;0.26;0.26	5.4	5.4	0.78164	WD40/YVTN repeat-like-containing domain (1);Quinonprotein alcohol dehydrogenase-like (1);	.	.	.	.	T	0.62624	0.2443	L	0.47190	1.495	0.80722	D	1	D;P;D;D;D	0.71674	0.996;0.932;0.998;0.994;0.994	P;B;P;P;P	0.55713	0.721;0.169;0.782;0.721;0.629	T	0.65113	-0.6247	9	0.66056	D	0.02	.	11.7399	0.51786	0.176:0.824:0.0:0.0	.	34;262;247;359;396	B4DH75;E7EQH1;Q4G0L2;Q8NFJ9;Q8NFJ9-2	.;.;.;BBS1_HUMAN;.	C	396;359;262	ENSP00000398526:R396C;ENSP00000317469:R359C;ENSP00000405764:R262C	ENSP00000317469:R359C	R	+	1	0	BBS1;CTD-3074O7.11	66047894	1.000000	0.71417	0.925000	0.36789	0.478000	0.33099	2.565000	0.45939	2.536000	0.85505	0.561000	0.74099	CGT		0.627	BBS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393235.2			9	30	0	0	0	1	0	9	30					T	66291318	C	T	66291318	3	4	415	1	0	0	0	0	1	0	0	0	1335	884	31	2	1117	2	BBS1	11	66291318	Missense_Mutation	SNP	C	TCGA-VP-A87C-01A-11D-A34U-08	60321900	66291318	68715198	20	20131											
ARNTL2	56938	broad.mit.edu	37	chr12	27553667	27553667	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aaccaactgaatttataaccCggtttgcagtgaatggaaaa	16	10	8	7	1	0	2	0	2	0	0	0	3	0	3	2	2	4	2	2	2	8	4	rs543030579		TCGA-VP-A87C-01A-11D-A34U-08	TCGA-VP-A87C-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9a3cde7-512a-4a9a-ba0c-3f630f015fb3	d76bd858-d1bd-40a1-9abf-4015860fd89b	g.chr12:27553667C>G	ENST00000266503.5	+	10	1138	c.1120C>G	c.(1120-1122)Cgg>Ggg	p.R374G	RP11-165P7.1_ENST00000500498.2_RNA|ARNTL2_ENST00000311001.5_Missense_Mutation_p.R360G|ARNTL2_ENST00000546179.1_Missense_Mutation_p.R337G|ARNTL2_ENST00000261178.5_Missense_Mutation_p.R326G|ARNTL2_ENST00000542388.1_Missense_Mutation_p.R289G|ARNTL2_ENST00000544915.1_Missense_Mutation_p.R340G|ARNTL2_ENST00000395901.2_Missense_Mutation_p.R337G			Q8WYA1	BMAL2_HUMAN	aryl hydrocarbon receptor nuclear translocator-like 2	374	PAS 2. {ECO:0000255|PROSITE- ProRule:PRU00140}.				circadian rhythm (GO:0007623)|entrainment of circadian clock (GO:0009649)|positive regulation of circadian rhythm (GO:0042753)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	E-box binding (GO:0070888)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity (GO:0000982)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			breast(1)|endometrium(2)|large_intestine(5)|lung(9)|ovary(1)|skin(2)|urinary_tract(1)	21	Colorectal(261;0.0847)|Lung SC(9;0.184)					ATTTATAACCCGGTTTGCAGT	0.343																																						ENST00000544915.1																			0				breast(1)|endometrium(2)|large_intestine(5)|lung(9)|ovary(1)|skin(2)|urinary_tract(1)	21						c.(1018-1020)Cgg>Ggg		aryl hydrocarbon receptor nuclear translocator-like 2							86	91	89					12																	27553667		2203	4300	6503	SO:0001583	missense	56938				circadian rhythm|entrainment of circadian clock|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr12:27553667C>G	AF246961	CCDS8712.1, CCDS58219.1, CCDS58220.1, CCDS58221.1, CCDS58222.1	12p12.2-p11.2	2013-05-21			ENSG00000029153	ENSG00000029153		"Basic helix-loop-helix proteins"	18984	protein-coding gene	gene with protein product		614517				10864977, 10964693	Standard	NM_020183		Approved	BMAL2, MOP9, CLIF, PASD9, bHLHe6	uc001rht.2	Q8WYA1	OTTHUMG00000169257	ENST00000266503.5:c.1120C>G	12.37:g.27553667C>G	ENSP00000266503:p.Arg374Gly					RP11-165P7.1_ENST00000500498.2_RNA|ARNTL2_ENST00000311001.5_Missense_Mutation_p.R360G|ARNTL2_ENST00000542388.1_Missense_Mutation_p.R289G|ARNTL2_ENST00000395901.2_Missense_Mutation_p.R337G|ARNTL2_ENST00000546179.1_Missense_Mutation_p.R337G|ARNTL2_ENST00000266503.5_Missense_Mutation_p.R374G|ARNTL2_ENST00000261178.5_Missense_Mutation_p.R326G	p.R340G	NM_020183.4	NP_064568.3	Q8WYA1	BMAL2_HUMAN			9	1237	+	Colorectal(261;0.0847)|Lung SC(9;0.184)		374		N -> S (in dbSNP:rs1037921).			B7Z429|F5H402|Q8WYA2|Q8WYA3|Q8WYA4|Q96J63|Q9H2M4|Q9NS70|Q9NYQ4|Q9NYQ5	Missense_Mutation	SNP	ENST00000266503.5	37	c.1018C>G	CCDS8712.1	.	.	.	.	.	.	.	.	.	.	C	17.13	3.310778	0.60414	.	.	ENSG00000029153	ENST00000544915;ENST00000395901;ENST00000546179;ENST00000311001;ENST00000261178;ENST00000266503;ENST00000542388	T;T;T;T;T;T;T	0.21932	1.98;1.98;1.98;1.98;1.98;1.98;1.98	4.05	3.13	0.36017	PAS (2);	0.000000	0.85682	D	0.000000	T	0.59018	0.2163	H	0.96604	3.85	0.53688	D	0.999979	D;D;D;D;D;D	0.89917	0.999;0.999;0.999;0.999;1.0;0.999	D;D;D;D;D;D	0.97110	0.992;0.996;0.992;0.992;1.0;0.995	T	0.73531	-0.3953	10	0.87932	D	0	.	13.1394	0.59426	0.1613:0.8387:0.0:0.0	.	337;340;337;326;360;374	F5H402;Q8WYA1-5;Q8WYA1-3;Q8WYA1-4;Q8WYA1-2;Q8WYA1	.;.;.;.;.;BMAL2_HUMAN	G	340;337;337;360;326;374;289	ENSP00000442438:R340G;ENSP00000379238:R337G;ENSP00000438545:R337G;ENSP00000312247:R360G;ENSP00000261178:R326G;ENSP00000266503:R374G;ENSP00000445836:R289G	ENSP00000261178:R326G	R	+	1	2	ARNTL2	27444934	0.975000	0.34042	0.995000	0.50966	0.993000	0.82548	2.412000	0.44609	1.016000	0.39470	0.655000	0.94253	CGG		0.343	ARNTL2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000403162.1	NM_020183		15	62	0	0	0	1	0	15	62					G	27553667	C	G	27553667	3	3	415	1	0	0	0	0	1	0	0	0	968	643	23	5	1158	5	ARNTL2	12	27553667	Missense_Mutation	SNP	C	TCGA-VP-A87C-01A-11D-A34U-08		27553667	106298228	21	20132											
C12orf64	283310	broad.mit.edu	37	chr12	80647295	80647295	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tccttggaaaattgcccatgCggttttcatggattagctta	9	15	9	8	1	1	0	1	0	0	0	2	2	2	2	2	3	3	2	2	3	4	6			TCGA-VP-A87C-01A-11D-A34U-08	TCGA-VP-A87C-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9a3cde7-512a-4a9a-ba0c-3f630f015fb3	d76bd858-d1bd-40a1-9abf-4015860fd89b	g.chr12:80647295C>T	ENST00000547103.1	+	13	1314	c.1308C>T	c.(1306-1308)tgC>tgT	p.C436C	OTOGL_ENST00000458043.2_Silent_p.C436C			Q3ZCN5	OTOGL_HUMAN	otogelin-like	436					L-arabinose metabolic process (GO:0046373)	extracellular region (GO:0005576)	alpha-L-arabinofuranosidase activity (GO:0046556)			breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						ATTGCCCATGCGGTTTTCATG	0.363																																						ENST00000458043.2																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						c.(1306-1308)tgC>tgT		otogelin-like							152	148	149					12																	80647295		1845	4100	5945	SO:0001819	synonymous_variant	283310							g.chr12:80647295C>T	AK096852		12q21.31	2011-02-11	2011-02-11	2011-02-11	ENSG00000165899	ENSG00000165899			26901	protein-coding gene	gene with protein product		614925	"chromosome 12 open reading frame 64"	C12orf64			Standard	NM_173591		Approved	FLJ90579	uc001szd.3	Q3ZCN5	OTTHUMG00000150509	ENST00000547103.1:c.1308C>T	12.37:g.80647295C>T						OTOGL_ENST00000547103.1_Silent_p.C436C	p.C436C	NM_173591.3	NP_775862.3					13	1314	+								F8W0C3|Q495U8|Q8N8G5|Q8NC28	Silent	SNP	ENST00000547103.1	37	c.1308C>T																																																																																					0.363	OTOGL-001	NOVEL	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000407438.1	NM_173591		10	31	0	0	0	1	0	10	31					T	80647295	C	T	80647295	2	4	415	1	0	0	0	0	0	0	0	1	1707	776	27	1		1	C12orf64	12	80647295	Silent	SNP	C	TCGA-VP-A87C-01A-11D-A34U-08	53093628	80647295	53204600	22	20133											
KTN1	3895	broad.mit.edu	37	chr14	56079014	56079014	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctgagagtgtacctcgagActttaaattatcagatgctt	11	14	8	8	1	2	3	1	1	1	3	3	5	2	3	1	0	2	2	1	0	4	5			TCGA-VP-A87C-01A-11D-A34U-08	TCGA-VP-A87C-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9a3cde7-512a-4a9a-ba0c-3f630f015fb3	d76bd858-d1bd-40a1-9abf-4015860fd89b	g.chr14:56079014A>G	ENST00000395314.3	+	2	316	c.248A>G	c.(247-249)gAc>gGc	p.D83G	KTN1_ENST00000395311.1_Missense_Mutation_p.D83G|KTN1_ENST00000395308.1_Missense_Mutation_p.D83G|KTN1_ENST00000416613.1_Missense_Mutation_p.D83G|KTN1_ENST00000395309.3_Missense_Mutation_p.D83G|KTN1_ENST00000438792.2_Missense_Mutation_p.D83G|KTN1_ENST00000413890.2_Missense_Mutation_p.D83G	NM_001079521.1	NP_001072989.1	Q86UP2	KTN1_HUMAN	kinectin 1 (kinesin receptor)	83					microtubule-based movement (GO:0007018)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)			breast(4)|central_nervous_system(1)|large_intestine(8)|lung(1)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	19						GTACCTCGAGACTTTAAATTA	0.358			T	RET	papillary thryoid																																	ENST00000416613.1				Dom	yes		14	14q22.1	3895	T	kinectin 1 (kinesin receptor)			E	RET		papillary thryoid		0				breast(4)|central_nervous_system(1)|large_intestine(8)|lung(1)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	19						c.(247-249)gAc>gGc		kinectin 1 (kinesin receptor)							77	82	80					14																	56079014		2203	4300	6503	SO:0001583	missense	0				microtubule-based movement	endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction		g.chr14:56079014A>G		CCDS41957.1, CCDS41958.1, CCDS41959.1	14q22.1	2008-05-02			ENSG00000126777	ENSG00000126777			6467	protein-coding gene	gene with protein product		600381				9605849	Standard	NM_001079521		Approved	KIAA0004, CG1	uc001xcc.3	Q86UP2	OTTHUMG00000140312	ENST00000395314.3:c.248A>G	14.37:g.56079014A>G	ENSP00000378725:p.Asp83Gly					KTN1_ENST00000438792.2_Missense_Mutation_p.D83G|KTN1_ENST00000395311.1_Missense_Mutation_p.D83G|KTN1_ENST00000395309.3_Missense_Mutation_p.D83G|KTN1_ENST00000395308.1_Missense_Mutation_p.D83G|KTN1_ENST00000413890.2_Missense_Mutation_p.D83G|KTN1_ENST00000395314.3_Missense_Mutation_p.D83G	p.D83G			Q86UP2	KTN1_HUMAN			1	320	+			83					B4DZ88|Q13999|Q14707|Q15387|Q17RZ5|Q5GGW3|Q86W57	Missense_Mutation	SNP	ENST00000395314.3	37	c.248A>G	CCDS41957.1	.	.	.	.	.	.	.	.	.	.	A	23.9	4.469117	0.84533	.	.	ENSG00000126777	ENST00000413890;ENST00000395309;ENST00000438792;ENST00000395314;ENST00000395308;ENST00000395311;ENST00000416613	D;D;D;D;D;D;D	0.98978	-5.29;-5.29;-5.29;-5.29;-5.29;-5.29;-5.29	5.63	5.63	0.86233	.	0.107276	0.41001	D	0.000968	D	0.98792	0.9593	L	0.53249	1.67	0.58432	D	0.999999	D;D;D;D	0.61697	0.981;0.99;0.981;0.981	P;P;P;P	0.61275	0.886;0.886;0.886;0.886	D	0.99698	1.1003	10	0.51188	T	0.08	-12.1296	15.8388	0.78824	1.0:0.0:0.0:0.0	.	83;83;83;83	B4DZ88;Q86UP2-2;Q17RZ5;Q86UP2	.;.;.;KTN1_HUMAN	G	83	ENSP00000394992:D83G;ENSP00000378720:D83G;ENSP00000391964:D83G;ENSP00000378725:D83G;ENSP00000378719:D83G;ENSP00000378722:D83G;ENSP00000388807:D83G	ENSP00000378719:D83G	D	+	2	0	KTN1	55148767	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.303000	0.89955	2.137000	0.66172	0.482000	0.46254	GAC		0.358	KTN1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276912.2			14	53	0	0	0	1	0	14	53					G	56079014	A	G	56079014	3	3	415	1	0	0	0	0	1	0	0	0	8585	275	10	4	250	4	KTN1	14	56079014	Missense_Mutation	SNP	A	TCGA-VP-A87C-01A-11D-A34U-08		56079014	51270526	23	20134											
TELO2	9894	broad.mit.edu	37	chr16	1556991	1556991	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcttgggagaagaccagcTggttctcggaaggctggcgc	7	8	15	11	2	2	2	0	0	2	2	3	4	2	3	2	5	1	3	2	5	2	2			TCGA-VP-A87C-01A-11D-A34U-08	TCGA-VP-A87C-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9a3cde7-512a-4a9a-ba0c-3f630f015fb3	d76bd858-d1bd-40a1-9abf-4015860fd89b	g.chr16:1556991T>C	ENST00000262319.6	+	18	2444	c.2165T>C	c.(2164-2166)cTg>cCg	p.L722P		NM_016111.3	NP_057195.2	Q9Y4R8	TELO2_HUMAN	telomere maintenance 2	722					regulation of TOR signaling (GO:0032006)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|intracellular (GO:0005622)|membrane (GO:0016020)|nucleus (GO:0005634)|TORC1 complex (GO:0031931)|TORC2 complex (GO:0031932)	protein complex binding (GO:0032403)			NS(1)|endometrium(1)|kidney(5)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	19		Hepatocellular(780;0.219)				GAAGACCAGCTGGTTCTCGGA	0.652																																						ENST00000262319.6																			0				NS(1)|endometrium(1)|kidney(5)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	19						c.(2164-2166)cTg>cCg		telomere maintenance 2							64	49	54					16																	1556991		2199	4300	6499	SO:0001583	missense	9894					chromosome, telomeric region|cytoplasm|membrane|nucleus	protein binding	g.chr16:1556991T>C	AL080126	CCDS32363.1	16p13.3	2013-08-06	2013-08-06		ENSG00000100726	ENSG00000100726			29099	protein-coding gene	gene with protein product		611140	"TEL2, telomere maintenance 2, homolog (S. cerevisiae)"			9734811, 11230166, 12670948	Standard	NM_016111		Approved	KIAA0683, hCLK2, TEL2	uc002cly.3	Q9Y4R8	OTTHUMG00000044471	ENST00000262319.6:c.2165T>C	16.37:g.1556991T>C	ENSP00000262319:p.Leu722Pro						p.L722P	NM_016111.3	NP_057195.2	Q9Y4R8	TELO2_HUMAN			18	2444	+		Hepatocellular(780;0.219)	722					D3DU73|O75168|Q7LDV4|Q9BR21	Missense_Mutation	SNP	ENST00000262319.6	37	c.2165T>C	CCDS32363.1	.	.	.	.	.	.	.	.	.	.	T	18.08	3.544503	0.65198	.	.	ENSG00000100726	ENST00000437914;ENST00000262319	T	0.17370	2.28	4.62	4.62	0.57501	.	0.067015	0.56097	D	0.000027	T	0.38983	0.1061	M	0.71206	2.165	0.80722	D	1	D	0.89917	1.0	D	0.76071	0.987	T	0.12967	-1.0527	10	0.39692	T	0.17	-17.7371	13.132	0.59389	0.0:0.0:0.0:1.0	.	722	Q9Y4R8	TELO2_HUMAN	P	245;722	ENSP00000262319:L722P	ENSP00000262319:L722P	L	+	2	0	TELO2	1496992	1.000000	0.71417	0.976000	0.42696	0.709000	0.40893	4.795000	0.62489	1.962000	0.57031	0.379000	0.24179	CTG		0.652	TELO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103602.2	NM_016111		4	9	0	0	0	1	0	4	9					C	1556991	T	C	1556991	3	2	415	1	0	0	0	0	1	0	0	0	15754	1580	55	4	2231	4	TELO2	16	1556991	Missense_Mutation	SNP	T	TCGA-VP-A87C-01A-11D-A34U-08		1556991	88797762	24	20135											
GPR142	350383	broad.mit.edu	37	chr17	72363725	72363725	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gacatcactgctgtcctgggTacagaagcatatactgagga	12	9	11	9	0	1	2	1	1	0	1	2	4	2	3	1	2	4	3	1	2	4	3			TCGA-VP-A87C-01A-11D-A34U-08	TCGA-VP-A87C-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9a3cde7-512a-4a9a-ba0c-3f630f015fb3	d76bd858-d1bd-40a1-9abf-4015860fd89b	g.chr17:72363725T>C	ENST00000335666.4	+	1	129	c.81T>C	c.(79-81)ggT>ggC	p.G27G		NM_181790.1	NP_861455.1	Q7Z601	GP142_HUMAN	G protein-coupled receptor 142	27						cell junction (GO:0030054)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(21)|ovary(2)|prostate(1)|skin(4)	35						CTGTCCTGGGTACAGAAGCAT	0.507																																						ENST00000335666.4																			0				central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(21)|ovary(2)|prostate(1)|skin(4)	35						c.(79-81)ggT>ggC		G protein-coupled receptor 142							117	98	105					17																	72363725		2203	4300	6503	SO:0001819	synonymous_variant	350383					cell junction|cytoplasm|integral to membrane	G-protein coupled receptor activity	g.chr17:72363725T>C	AY255622	CCDS11698.1	17q25.2	2012-08-21				ENSG00000257008		"GPCR / Class A : Orphans"	20088	protein-coding gene	gene with protein product		609046				14623098	Standard	NM_181790		Approved	PGR2	uc010wqy.2	Q7Z601		ENST00000335666.4:c.81T>C	17.37:g.72363725T>C							p.G27G	NM_181790.1	NP_861455.1	Q7Z601	GP142_HUMAN			1	129	+			27					A4CYJ8|Q86SL3	Silent	SNP	ENST00000335666.4	37	c.81T>C	CCDS11698.1																																																																																				0.507	GPR142-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442545.1	NM_181790		12	40	0	0	0	1	0	12	40					C	72363725	T	C	72363725	2	2	415	1	0	0	0	0	0	0	0	1	6650	1625	57	4		4	GPR142	17	72363725	Silent	SNP	T	TCGA-VP-A87C-01A-11D-A34U-08		72363725	8831485	25	20136											
ICT1	3396	broad.mit.edu	37	chr17	73016712	73016712	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgaggccagccagacaccgAaggagccaacaaaagaagat	17	2	11	11	1	0	4	0	1	0	3	0	6	0	5	4	2	3	0	4	2	5	0			TCGA-VP-A87C-01A-11D-A34U-08	TCGA-VP-A87C-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9a3cde7-512a-4a9a-ba0c-3f630f015fb3	d76bd858-d1bd-40a1-9abf-4015860fd89b	g.chr17:73016712A>C	ENST00000301585.5	+	5	509	c.496A>C	c.(496-498)Aag>Cag	p.K166Q		NM_001545.1	NP_001536.1	Q14197	ICT1_HUMAN	immature colon carcinoma transcript 1	166					mitochondrial translational termination (GO:0070126)	mitochondrial large ribosomal subunit (GO:0005762)|mitochondrion (GO:0005739)	aminoacyl-tRNA hydrolase activity (GO:0004045)|translation release factor activity, codon nonspecific (GO:0016150)			NS(1)|central_nervous_system(1)|lung(2)|ovary(1)|urinary_tract(1)	6	all_lung(278;0.226)					CCAGACACCGAAGGAGCCAAC	0.468																																						ENST00000301585.5																			0				NS(1)|central_nervous_system(1)|lung(2)|ovary(1)|urinary_tract(1)	6						c.(496-498)Aag>Cag		immature colon carcinoma transcript 1							68	68	68					17																	73016712		2203	4300	6503	SO:0001583	missense	3396				mitochondrial translational termination	mitochondrial large ribosomal subunit	aminoacyl-tRNA hydrolase activity|translation release factor activity, codon nonspecific	g.chr17:73016712A>C	X81788	CCDS11711.1	17q25	2014-02-12				ENSG00000167862			5359	protein-coding gene	gene with protein product		603000				8575443, 20186120	Standard	NM_001545		Approved	DS-1	uc002jmm.3	Q14197		ENST00000301585.5:c.496A>C	17.37:g.73016712A>C	ENSP00000301585:p.Lys166Gln						p.K166Q	NM_001545.1	NP_001536.1	Q14197	ICT1_HUMAN			5	509	+	all_lung(278;0.226)		166					B2RAD1|Q53HM7|Q53Y11	Missense_Mutation	SNP	ENST00000301585.5	37	c.496A>C	CCDS11711.1	.	.	.	.	.	.	.	.	.	.	A	10.95	1.496392	0.26861	.	.	ENSG00000167862	ENST00000301585	T	0.18502	2.21	5.77	3.53	0.40419	Peptide chain release factor class I/class II (1);	0.669069	0.16209	N	0.224568	T	0.22898	0.0553	M	0.61703	1.905	0.36004	D	0.837573	B	0.32717	0.381	B	0.40901	0.343	T	0.10567	-1.0624	10	0.46703	T	0.11	-5.1496	8.0776	0.30726	0.7761:0.0:0.2239:0.0	.	166	Q14197	ICT1_HUMAN	Q	166	ENSP00000301585:K166Q	ENSP00000301585:K166Q	K	+	1	0	ICT1	70528307	0.001000	0.12720	0.191000	0.23289	0.839000	0.47603	1.426000	0.34870	0.444000	0.26612	0.459000	0.35465	AAG		0.468	ICT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445314.1	NM_001545		3	56	0	0	0	1	0	3	56					C	73016712	A	C	73016712	3	2	415	1	0	0	0	0	1	0	0	0	7488	247	9	5	514	5	ICT1	17	73016712	Missense_Mutation	SNP	A	TCGA-VP-A87C-01A-11D-A34U-08	652987	73016712	8178498	26	20137											
NUP85	79902	broad.mit.edu	37	chr17	73228981	73228981	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agatcttagccatgaaagccGtccgcaacaatcgcctgggt	11	8	10	12	3	1	2	0	1	1	1	3	2	2	2	4	1	3	1	4	1	4	1			TCGA-VP-A87C-01A-11D-A34U-08	TCGA-VP-A87C-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9a3cde7-512a-4a9a-ba0c-3f630f015fb3	d76bd858-d1bd-40a1-9abf-4015860fd89b	g.chr17:73228981G>A	ENST00000245544.4	+	15	1503	c.1432G>A	c.(1432-1434)Gtc>Atc	p.V478I	NUP85_ENST00000579324.1_Missense_Mutation_p.V366I|NUP85_ENST00000447371.2_Missense_Mutation_p.V310I|NUP85_ENST00000579298.1_Missense_Mutation_p.V433I|NUP85_ENST00000541827.1_Missense_Mutation_p.V432I|NUP85_ENST00000540768.1_Missense_Mutation_p.V81I	NM_024844.3	NP_079120.1	Q9BW27	NUP85_HUMAN	nucleoporin 85kDa	478					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|lamellipodium assembly (GO:0030032)|macrophage chemotaxis (GO:0048246)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore outer ring (GO:0031080)				endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	16	all_lung(278;0.14)|Lung NSC(278;0.168)		all cancers(21;3.45e-06)			CATGAAAGCCGTCCGCAACAA	0.532																																						ENST00000447371.2																			0				endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	16						c.(928-930)Gtc>Atc		nucleoporin 85kDa							151	152	152					17																	73228981		2203	4300	6503	SO:0001583	missense	79902				carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|nuclear membrane|Nup107-160 complex|spindle	protein binding	g.chr17:73228981G>A	AF514995	CCDS32730.1	17q25	2006-11-29	2005-11-03	2005-11-03		ENSG00000125450			8734	protein-coding gene	gene with protein product		170285				8124707	Standard	XM_005257690		Approved	NUP75, FLJ12549	uc002jng.1	Q9BW27		ENST00000245544.4:c.1432G>A	17.37:g.73228981G>A	ENSP00000245544:p.Val478Ile					NUP85_ENST00000579324.1_Missense_Mutation_p.V366I|NUP85_ENST00000579298.1_Missense_Mutation_p.V433I|NUP85_ENST00000541827.1_Missense_Mutation_p.V432I|NUP85_ENST00000245544.4_Missense_Mutation_p.V478I|NUP85_ENST00000540768.1_Missense_Mutation_p.V81I	p.V310I			Q9BW27	NUP85_HUMAN	all cancers(21;3.45e-06)		14	1352	+	all_lung(278;0.14)|Lung NSC(278;0.168)		478					B4DMQ3|B4DPW1|Q8NDI4|Q9H9U1	Missense_Mutation	SNP	ENST00000245544.4	37	c.928G>A	CCDS32730.1	.	.	.	.	.	.	.	.	.	.	G	12.89	2.072446	0.36566	.	.	ENSG00000125450	ENST00000245544;ENST00000541827;ENST00000447371;ENST00000540768	.	.	.	5.49	2.37	0.29283	.	0.185777	0.47093	N	0.000241	T	0.24890	0.0604	N	0.16368	0.405	0.34606	D	0.717032	B;B	0.33318	0.115;0.408	B;B	0.27500	0.021;0.08	T	0.26608	-1.0098	9	0.21540	T	0.41	-14.9664	8.3218	0.32134	0.1427:0.3615:0.4958:0.0	.	432;478	B4DMQ3;Q9BW27	.;NUP85_HUMAN	I	478;432;310;81	.	ENSP00000245544:V478I	V	+	1	0	NUP85	70740576	0.754000	0.28360	0.922000	0.36590	0.987000	0.75469	1.109000	0.31135	0.270000	0.21984	0.655000	0.94253	GTC		0.532	NUP85-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446619.1	NM_024844		4	159	0	0	0	1	0	4	159					A	73228981	G	A	73228981	3	1	415	1	0	0	0	0	1	0	0	0	10770	1145	40	1	1490	1	NUP85	17	73228981	Missense_Mutation	SNP	G	TCGA-VP-A87C-01A-11D-A34U-08	212269	73228981	7966229	27	20138											
ILF3	3609	broad.mit.edu	37	chr19	10781285	10781286	+	Splice_Site	INS	-	-	T																															tacagaagaagtaaaaatggINStaagtttgtttttgatcaca																								rs111709385		TCGA-VP-A87C-01A-11D-A34U-08	TCGA-VP-A87C-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9a3cde7-512a-4a9a-ba0c-3f630f015fb3	d76bd858-d1bd-40a1-9abf-4015860fd89b	g.chr19:10781285_10781286insT	ENST00000590261.1	+	1	3		c.e1+1		ILF3_ENST00000420083.1_Splice_Site|ILF3_ENST00000449870.1_Splice_Site|ILF3_ENST00000592763.1_Splice_Site|ILF3_ENST00000407004.3_Splice_Site|ILF3_ENST00000589998.1_Splice_Site|ILF3_ENST00000588657.1_Splice_Site|ILF3_ENST00000318511.3_Splice_Site|ILF3_ENST00000250241.8_Splice_Site			Q12906	ILF3_HUMAN	interleukin enhancer binding factor 3, 90kDa						defense response to virus (GO:0051607)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of translation (GO:0017148)|negative regulation of viral genome replication (GO:0045071)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31			Epithelial(33;6.86e-06)|all cancers(31;1.65e-05)			AGTAAAAATGGTAAGTTTGTTT	0.332																																						ENST00000449870.1																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31						c.e2+1		interleukin enhancer binding factor 3, 90kDa																																				SO:0001630	splice_region_variant	3609				M phase|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleolus|ribonucleoprotein complex	DNA binding|double-stranded RNA binding|protein binding	g.chr19:10781285_10781286insT	U10324	CCDS12246.1, CCDS12247.1, CCDS45965.1, CCDS45966.1, CCDS45967.1	19p13.2	2012-08-10	2002-08-29		ENSG00000129351	ENSG00000129351			6038	protein-coding gene	gene with protein product	"M-phase phosphoprotein 4"	603182	"interleukin enhancer binding factor 3, 90kD"			7519613, 8885239	Standard	NM_012218		Approved	NF90, MPHOSPH4, MPP4, DRBP76, NFAR-1	uc002mpo.3	Q12906		ENST00000590261.1:c.3+1->T	19.37:g.10781286_10781286dupT						ILF3_ENST00000588657.1_Splice_Site|ILF3_ENST00000420083.1_Splice_Site|ILF3_ENST00000250241.8_Splice_Site|ILF3_ENST00000590261.1_Splice_Site|ILF3_ENST00000318511.3_Splice_Site|ILF3_ENST00000592763.1_Splice_Site|ILF3_ENST00000589998.1_Splice_Site|ILF3_ENST00000407004.3_Splice_Site		NM_017620.2	NP_060090.2	Q12906	ILF3_HUMAN	Epithelial(33;6.86e-06)|all cancers(31;1.65e-05)		2	320	+								A8K6F2|G5E9M5|O43409|Q6P1X1|Q86XY7|Q99544|Q99545|Q9BZH4|Q9BZH5|Q9NQ95|Q9NQ96|Q9NQ97|Q9NQ98|Q9NQ99|Q9NQA0|Q9NQA1|Q9NQA2|Q9NRN2|Q9NRN3|Q9NRN4|Q9UMZ9|Q9UN00|Q9UN84|Q9UNA2	Splice_Site	INS	ENST00000590261.1	37		CCDS12246.1																																																																																				0.332	ILF3-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452074.1		Intron	9	52						9	52	---	---	---	---	T	10781286	-	T	10781285	8	5	415	1	0	1	1	0	0	0	1	0	7712	1275	44	0	6	0	ILF3	19	10781285	Splice_Site	INS	-	TCGA-VP-A87C-01A-11D-A34U-08		10781285	48347698	28	20139											
HOOK2	29911	broad.mit.edu	37	chr19	12875684	12875684	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccatggcccgcaagtccgCgtccttcttctgcaagttat	6	12	8	15	3	2	0	0	0	2	0	5	0	5	0	4	1	1	3	4	1	3	3			TCGA-VP-A87C-01A-11D-A34U-08	TCGA-VP-A87C-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9a3cde7-512a-4a9a-ba0c-3f630f015fb3	d76bd858-d1bd-40a1-9abf-4015860fd89b	g.chr19:12875684C>T	ENST00000397668.3	-	20	1844	c.1771G>A	c.(1771-1773)Gcg>Acg	p.A591T	HOOK2_ENST00000589965.1_5'Flank|HOOK2_ENST00000264827.5_Missense_Mutation_p.A589T	NM_013312.2	NP_037444.2	Q96ED9	HOOK2_HUMAN	hook microtubule-tethering protein 2	591	Required for localization to the centrosome and induction of aggresome formation.|Sufficient for interaction with CNTRL.				early endosome to late endosome transport (GO:0045022)|endocytosis (GO:0006897)|endosome organization (GO:0007032)|endosome to lysosome transport (GO:0008333)|lysosome organization (GO:0007040)|protein transport (GO:0015031)	centrosome (GO:0005813)|FHF complex (GO:0070695)|microtubule (GO:0005874)	identical protein binding (GO:0042802)			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(5)|skin(1)	20						CGCAAGTCCGCGTCCTTCTTC	0.647											OREG0025273	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000264827.5																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(5)|skin(1)	20						c.(1765-1767)Gcg>Acg		hook microtubule-tethering protein 2							81	85	84					19																	12875684		2044	4183	6227	SO:0001583	missense	29911				early endosome to late endosome transport|endocytosis|endosome organization|endosome to lysosome transport|lysosome organization|microtubule cytoskeleton organization|protein transport	centrosome|FHF complex|microtubule	identical protein binding|microtubule binding	g.chr19:12875684C>T	AF044924	CCDS42507.1, CCDS42508.1	19p13.2	2013-08-21	2013-08-21						19885	protein-coding gene	gene with protein product		607824	"hook homolog 2 (Drosophila)"			9927460	Standard	NM_013312		Approved	HK2	uc002muy.2	Q96ED9		ENST00000397668.3:c.1771G>A	19.37:g.12875684C>T	ENSP00000380785:p.Ala591Thr		OREG0025273	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	683	HOOK2_ENST00000397668.3_Missense_Mutation_p.A591T	p.A589T	NM_001100176.1	NP_001093646.1	Q96ED9	HOOK2_HUMAN			19	1935	-			591			Required for localization to the centrosome and induction of aggresome formation.|Sufficient for interaction with CEP110.		O60562	Missense_Mutation	SNP	ENST00000397668.3	37	c.1765G>A	CCDS42508.1	.	.	.	.	.	.	.	.	.	.	C	20.1	3.939365	0.73557	.	.	ENSG00000095066	ENST00000397668;ENST00000264827	T;T	0.17691	2.26;2.26	5.11	5.11	0.69529	.	0.178973	0.45361	D	0.000361	T	0.18964	0.0455	L	0.47716	1.5	0.41734	D	0.989575	P;P	0.45176	0.821;0.852	B;B	0.40165	0.215;0.321	T	0.01914	-1.1248	10	0.41790	T	0.15	-10.5963	17.3409	0.87296	0.0:1.0:0.0:0.0	.	589;591	Q96ED9-2;Q96ED9	.;HOOK2_HUMAN	T	591;589	ENSP00000380785:A591T;ENSP00000264827:A589T	ENSP00000264827:A589T	A	-	1	0	HOOK2	12736684	1.000000	0.71417	0.089000	0.20774	0.285000	0.27093	6.450000	0.73477	2.386000	0.81285	0.650000	0.86243	GCG		0.647	HOOK2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000451008.1	NM_013312		7	104	0	0	0	1	0	7	104					T	12875684	C	T	12875684	3	4	415	1	0	0	0	0	1	0	0	0	7283	768	27	1	404	1	HOOK2	19	12875684	Missense_Mutation	SNP	C	TCGA-VP-A87C-01A-11D-A34U-08	2094399	12875684	46253299	29	20140											
ZNF155	7711	broad.mit.edu	37	chr19	44495748	44495748	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tggtcttcactgaggaggagCtggggctgctggaccctgcc	5	9	16	11	0	2	1	1	1	1	0	2	4	2	4	2	6	3	3	2	6	0	1			TCGA-VP-A87C-01A-11D-A34U-08	TCGA-VP-A87C-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9a3cde7-512a-4a9a-ba0c-3f630f015fb3	d76bd858-d1bd-40a1-9abf-4015860fd89b	g.chr19:44495748C>G	ENST00000270014.2	+	3	192	c.64C>G	c.(64-66)Ctg>Gtg	p.L22V	ZNF155_ENST00000590615.1_Missense_Mutation_p.L22V|ZNF155_ENST00000407951.2_Missense_Mutation_p.L33V	NM_001260487.1|NM_198089.2	NP_001247416|NP_932355	Q12901	ZN155_HUMAN	zinc finger protein 155	22	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	15		Prostate(69;0.0352)				TGAGGAGGAGCTGGGGCTGCT	0.532																																					NSCLC(61;554 1277 20909 42067 42312)	ENST00000270014.2																			0				endometrium(3)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	15						c.(64-66)Ctg>Gtg		zinc finger protein 155							239	221	227					19																	44495748		2203	4297	6500	SO:0001583	missense	7711					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:44495748C>G	U09852	CCDS12634.1, CCDS58668.1	19q13.2-q13.32	2013-01-08	2006-08-22			ENSG00000204920		"Zinc fingers, C2H2-type", "-"	12940	protein-coding gene	gene with protein product		604086	"zinc finger protein 155 (pHZ-96)"			7557990	Standard	NM_001260486		Approved	pHZ-96	uc010xwt.2	Q12901		ENST00000270014.2:c.64C>G	19.37:g.44495748C>G	ENSP00000270014:p.Leu22Val					ZNF155_ENST00000407951.2_Missense_Mutation_p.L33V|ZNF155_ENST00000590615.1_Missense_Mutation_p.L22V	p.L22V	NM_001260487.1|NM_198089.2	NP_001247416.1|NP_932355.2	Q12901	ZN155_HUMAN			3	192	+		Prostate(69;0.0352)	22			KRAB.		A2BDE6|B2RB63|B4DM95|J3KQ08|Q6AZZ8|Q9UIE1|Q9UK14	Missense_Mutation	SNP	ENST00000270014.2	37	c.64C>G	CCDS12634.1	.	.	.	.	.	.	.	.	.	.	c	13.84	2.356298	0.41700	.	.	ENSG00000204920	ENST00000407951;ENST00000270014	T;T	0.01787	4.64;4.64	1.64	1.64	0.23874	Krueppel-associated box (4);	.	.	.	.	T	0.06508	0.0167	M	0.68317	2.08	0.23546	N	0.997442	D;D	0.89917	0.999;1.0	D;D	0.91635	0.999;0.996	T	0.30475	-0.9977	9	0.87932	D	0	.	3.5586	0.07873	0.0:0.6202:0.0:0.3798	.	33;22	B4DM95;Q12901	.;ZN155_HUMAN	V	33;22	ENSP00000385163:L33V;ENSP00000270014:L22V	ENSP00000270014:L22V	L	+	1	2	ZNF155	49187588	0.980000	0.34600	1.000000	0.80357	0.940000	0.58332	-0.002000	0.12924	1.202000	0.43218	0.462000	0.41574	CTG		0.532	ZNF155-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000460074.1	NM_003445		5	178	0	0	0	1	0	5	178					G	44495748	C	G	44495748	3	3	415	1	0	0	0	0	1	0	0	0	17733	796	28	5	70	5	ZNF155	19	44495748	Missense_Mutation	SNP	C	TCGA-VP-A87C-01A-11D-A34U-08	31620064	44495748	14633235	30	20141											
ZNF71	58491	broad.mit.edu	37	chr19	57133480	57133480	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccgtacgtgtgccccgagtgCgggcgagccttcagccagaa	7	6	14	14	5	1	1	1	0	0	1	1	3	1	1	5	1	5	1	5	1	2	2			TCGA-VP-A87C-01A-11D-A34U-08	TCGA-VP-A87C-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9a3cde7-512a-4a9a-ba0c-3f630f015fb3	d76bd858-d1bd-40a1-9abf-4015860fd89b	g.chr19:57133480C>T	ENST00000328070.6	+	3	1059	c.825C>T	c.(823-825)tgC>tgT	p.C275C		NM_021216.4	NP_067039.1	Q9NQZ8	ZNF71_HUMAN	zinc finger protein 71	275					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	26				GBM - Glioblastoma multiforme(193;0.062)|Lung(386;0.0681)|LUSC - Lung squamous cell carcinoma(496;0.18)		GCCCCGAGTGCGGGCGAGCCT	0.662																																						ENST00000328070.6																			0				endometrium(3)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	26						c.(823-825)tgC>tgT		zinc finger protein 71							52	56	54					19																	57133480		2203	4300	6503	SO:0001819	synonymous_variant	58491					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:57133480C>T	X60074	CCDS12947.1	19q13.4	2013-01-08	2006-05-12			ENSG00000197951		"Zinc fingers, C2H2-type"	13141	protein-coding gene	gene with protein product		194545	"zinc finger protein 71 (Cos26)"			1639391	Standard	NM_021216		Approved	Cos26, EZFIT	uc002qnm.4	Q9NQZ8		ENST00000328070.6:c.825C>T	19.37:g.57133480C>T							p.C275C	NM_021216.4	NP_067039.1	Q9NQZ8	ZNF71_HUMAN		GBM - Glioblastoma multiforme(193;0.062)|Lung(386;0.0681)|LUSC - Lung squamous cell carcinoma(496;0.18)	3	1059	+			275					Q15919|Q9UC09|Q9UQD3	Silent	SNP	ENST00000328070.6	37	c.825C>T	CCDS12947.1																																																																																				0.662	ZNF71-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459798.2	NM_021216		4	77	0	0	0	1	0	4	77					T	57133480	C	T	57133480	2	4	415	1	0	0	0	0	0	0	0	1	18111	776	27	1		1	ZNF71	19	57133480	Silent	SNP	C	TCGA-VP-A87C-01A-11D-A34U-08	12637732	57133480	1995503	31	20142											
RBM12	10137	broad.mit.edu	37	chr20	34240746	34240746	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atatggattgggccagggccGgggccggggccggggccagg	5	4	22	10	3	0	0	0	0	0	0	0	1	0	1	5	10	0	0	5	10	1	2	rs191138663		TCGA-VP-A87C-01A-11D-A34U-08	TCGA-VP-A87C-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9a3cde7-512a-4a9a-ba0c-3f630f015fb3	d76bd858-d1bd-40a1-9abf-4015860fd89b	g.chr20:34240746G>A	ENST00000374114.3	-	3	2762	c.2499C>T	c.(2497-2499)ccC>ccT	p.P833P	CPNE1_ENST00000397442.1_Intron|CPNE1_ENST00000352393.4_Intron|RP1-309K20.6_ENST00000541176.2_Intron|CPNE1_ENST00000397443.1_Intron|CPNE1_ENST00000317677.5_Intron|CPNE1_ENST00000397445.1_Intron|RBM12_ENST00000359646.1_Silent_p.P833P|RBM12_ENST00000374104.3_Silent_p.P833P|CPNE1_ENST00000397446.1_Intron|CPNE1_ENST00000317619.3_Intron	NM_001198838.1|NM_001198840.1|NM_006047.5	NP_001185767.1|NP_001185769.1|NP_006038.2	Q9NTZ6	RBM12_HUMAN	RNA binding motif protein 12	833	Gly-rich.|Pro-rich.					nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(7)|kidney(1)|large_intestine(3)|lung(14)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36	Lung NSC(9;0.00608)|all_lung(11;0.00918)		BRCA - Breast invasive adenocarcinoma(18;0.00953)			ggccagggccggggccggggc	0.612																																						ENST00000374114.3																			0				breast(3)|endometrium(7)|kidney(1)|large_intestine(3)|lung(14)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						c.(2497-2499)ccC>ccT		RNA binding motif protein 12		G	,,,,,,,,,	3,4215		0,3,2106	16	18	17		2499,2499,,,2499,2499,,,,	0.1	0.9	20		17	3,8443		0,3,4220	no	coding-synonymous,coding-synonymous,intron,intron,coding-synonymous,coding-synonymous,intron,intron,intron,intron	CPNE1,RBM12	NM_001198838.1,NM_001198840.1,NM_001198863.1,NM_003915.5,NM_006047.5,NM_152838.3,NM_152925.2,NM_152926.2,NM_152927.2,NM_152928.2	,,,,,,,,,	0,6,6326	AA,AG,GG		0.0355,0.0711,0.0474	,,,,,,,,,	833/933,833/933,,,833/933,833/933,,,,	34240746	6,12658	2109	4223	6332	SO:0001819	synonymous_variant	10137					nucleus	nucleotide binding|protein binding|RNA binding	g.chr20:34240746G>A	AJ289772	CCDS13261.1	20q11.21	2013-02-12			ENSG00000244462	ENSG00000244462		"RNA binding motif (RRM) containing"	9898	protein-coding gene	gene with protein product		607179				11435693	Standard	NM_006047		Approved	HRIHFB2091, KIAA0765, SWAN	uc021wcq.1	Q9NTZ6	OTTHUMG00000032350	ENST00000374114.3:c.2499C>T	20.37:g.34240746G>A						CPNE1_ENST00000397445.1_Intron|RBM12_ENST00000359646.1_Silent_p.P833P|CPNE1_ENST00000352393.4_Intron|CPNE1_ENST00000317677.5_Intron|CPNE1_ENST00000397446.1_Intron|CPNE1_ENST00000317619.3_Intron|CPNE1_ENST00000397443.1_Intron|CPNE1_ENST00000397442.1_Intron|RBM12_ENST00000374104.3_Silent_p.P833P	p.P833P	NM_001198838.1|NM_001198840.1|NM_006047.5	NP_001185767.1|NP_001185769.1|NP_006038.2	Q9NTZ6	RBM12_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.00953)		3	2762	-	Lung NSC(9;0.00608)|all_lung(11;0.00918)		833			Gly-rich.|Pro-rich.		B3KRU2|E1P5R6|O94865|Q8N3B1|Q9H196	Silent	SNP	ENST00000374114.3	37	c.2499C>T	CCDS13261.1																																																																																				0.612	RBM12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078894.1	NM_006047		3	46	0	0	0	1	0	3	46					A	34240746	G	A	34240746	2	1	415	1	0	0	0	0	0	0	0	1	13113	1103	39	2		2	RBM12	20	34240746	Silent	SNP	G	TCGA-VP-A87C-01A-11D-A34U-08		34240746	28784774	32	20143											
TXNRD2	10587	broad.mit.edu	37	chr22	19903312	19903312	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttcccacctttggcaacgccGcaaaccgtgtgctcgtcaac	8	9	8	16	4	1	0	1	0	0	0	3	0	2	0	4	1	4	3	4	1	3	2			TCGA-VP-A87C-01A-11D-A34U-08	TCGA-VP-A87C-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9a3cde7-512a-4a9a-ba0c-3f630f015fb3	d76bd858-d1bd-40a1-9abf-4015860fd89b	g.chr22:19903312G>A	ENST00000400521.1	-	6	510	c.504C>T	c.(502-504)tgC>tgT	p.C168C	TXNRD2_ENST00000400519.1_Silent_p.C167C|TXNRD2_ENST00000542719.1_Silent_p.C138C|TXNRD2_ENST00000535882.1_Silent_p.C167C|TXNRD2_ENST00000334363.9_Silent_p.C168C|TXNRD2_ENST00000400518.1_Silent_p.C138C|TXNRD2_ENST00000491939.1_5'UTR	NM_006440.3	NP_006431.2	Q9NNW7	TRXR2_HUMAN	thioredoxin reductase 2	168					cell redox homeostasis (GO:0045454)|heart development (GO:0007507)|hemopoiesis (GO:0030097)|response to oxygen radical (GO:0000305)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	flavin adenine dinucleotide binding (GO:0050660)|NADP binding (GO:0050661)|thioredoxin-disulfide reductase activity (GO:0004791)			breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|urinary_tract(2)	30	Colorectal(54;0.0993)					TGGCAACGCCGCAAACCGTGT	0.463																																						ENST00000400519.1																			0				breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|urinary_tract(2)	30						c.(499-501)tgC>tgT		thioredoxin reductase 2							91	96	94					22																	19903312		1991	4157	6148	SO:0001819	synonymous_variant	10587				cell redox homeostasis|response to oxygen radical	mitochondrion	flavin adenine dinucleotide binding|NADP binding|thioredoxin-disulfide reductase activity	g.chr22:19903312G>A	AF106697	CCDS42981.1, CCDS63402.1	22q11.21	2014-09-17			ENSG00000184470	ENSG00000184470			18155	protein-coding gene	gene with protein product	"thioredoxin reductase beta", "selenoprotein Z"	606448				9923614, 10215850, 11012661	Standard	NM_006440		Approved	TR, TRXR2, TR3	uc021wlj.1	Q9NNW7	OTTHUMG00000149975	ENST00000400521.1:c.504C>T	22.37:g.19903312G>A						TXNRD2_ENST00000400518.1_Silent_p.C138C|TXNRD2_ENST00000491939.1_5'UTR|TXNRD2_ENST00000400521.1_Silent_p.C168C|TXNRD2_ENST00000542719.1_Silent_p.C138C|TXNRD2_ENST00000334363.9_Silent_p.C168C|TXNRD2_ENST00000535882.1_Silent_p.C167C|TXNRD2_ENST00000400525.1_Silent_p.C145C	p.C167C			Q9NNW7	TRXR2_HUMAN			6	500	-	Colorectal(54;0.0993)		168					O95840|Q96IJ2|Q9H2Z5|Q9NZV3|Q9NZV4|Q9P2Y0|Q9P2Y1|Q9UQU8	Silent	SNP	ENST00000400521.1	37	c.501C>T	CCDS42981.1																																																																																				0.463	TXNRD2-003	KNOWN	NMD_exception|basic|appris_candidate_longest|CCDS|seleno	protein_coding	protein_coding	OTTHUMT00000314903.3	NM_006440		3	55	0	0	0	1	0	3	55					A	19903312	G	A	19903312	2	1	415	1	0	0	0	0	0	0	0	1	16805	1079	38	1		1	TXNRD2	22	19903312	Silent	SNP	G	TCGA-VP-A87C-01A-11D-A34U-08		19903312	31401254	33	20144											
DPH2	1802	broad.mit.edu	37	chr1	44435899	44435899	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cggcgctgcagcgagagaccGgggtgccaggactgcttact	7	6	16	12	4	0	1	0	0	0	1	0	4	0	2	2	4	5	3	2	4	1	1	rs41270389		TCGA-VP-A87D-01A-11D-A34U-08	TCGA-VP-A87D-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a582e00-aad2-4360-868a-9ab8fa301eaa	4ca66d58-c6b9-4c71-b209-aa0a52690c09	g.chr1:44435899G>C	ENST00000255108.3	+	1	224	c.52G>C	c.(52-54)Ggg>Cgg	p.G18R	DPH2_ENST00000412950.2_5'UTR|DPH2_ENST00000529729.1_3'UTR|DPH2_ENST00000396758.2_Missense_Mutation_p.G18R	NM_001384.4	NP_001375.2	Q9BQC3	DPH2_HUMAN	DPH2 homolog (S. cerevisiae)	18					peptidyl-diphthamide biosynthetic process from peptidyl-histidine (GO:0017183)	cytoplasm (GO:0005737)				autonomic_ganglia(1)|kidney(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(2)|skin(1)	19	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)				GCGAGAGACCGGGGTGCCAGG	0.647																																						ENST00000255108.3																			0				autonomic_ganglia(1)|kidney(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(2)|skin(1)	19						c.(52-54)Ggg>Cgg		DPH2 homolog (S. cerevisiae)							62	66	65					1																	44435899		2203	4300	6503	SO:0001583	missense	1802				peptidyl-diphthamide biosynthetic process from peptidyl-histidine	cytoplasm		g.chr1:44435899G>C	AF053003	CCDS504.1, CCDS41314.1	1p34	2008-02-05	2005-06-03	2005-06-03	ENSG00000132768	ENSG00000132768			3004	protein-coding gene	gene with protein product		603456	"diptheria toxin resistance protein required for diphthamide biosynthesis-like 2 (S. cerevisiae)", "DPH2-like 2 (S. cerevisiae)"	DPH2L2		9782084, 15485916	Standard	XM_005270559		Approved		uc001ckz.3	Q9BQC3	OTTHUMG00000008295	ENST00000255108.3:c.52G>C	1.37:g.44435899G>C	ENSP00000255108:p.Gly18Arg					DPH2_ENST00000396758.2_Missense_Mutation_p.G18R|DPH2_ENST00000529729.1_3'UTR|DPH2_ENST00000412950.2_5'UTR	p.G18R	NM_001384.4	NP_001375.2	Q9BQC3	DPH2_HUMAN			1	224	+	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)	18					A8MVC9|B2RDE3|B4DNI8|O60623	Missense_Mutation	SNP	ENST00000255108.3	37	c.52G>C	CCDS504.1	.	.	.	.	.	.	.	.	.	.	G	7.924	0.739265	0.15642	.	.	ENSG00000132768	ENST00000255108;ENST00000396758	.	.	.	5.24	5.24	0.73138	.	0.234553	0.40302	N	0.001121	T	0.56441	0.1985	L	0.56769	1.78	0.37484	D	0.916095	P;D	0.60575	0.894;0.988	P;P	0.55667	0.456;0.781	T	0.56992	-0.7887	9	0.20519	T	0.43	-11.3005	7.9848	0.30205	0.0859:0.162:0.7521:0.0	.	18;18	A8MVC9;Q9BQC3	.;DPH2_HUMAN	R	18	.	ENSP00000255108:G18R	G	+	1	0	DPH2	44208486	0.947000	0.32204	0.649000	0.29536	0.130000	0.20726	2.323000	0.43823	2.608000	0.88229	0.461000	0.40582	GGG		0.647	DPH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022832.1	NM_001384		6	59	0	0	0	1	0	6	59					C	44435899	G	C	44435899	3	2	416	1	0	0	0	0	1	0	0	0	4720	1116	39	5	54	5	DPH2	1	44435899	Missense_Mutation	SNP	G	TCGA-VP-A87D-01A-11D-A34U-08		44435899	204814722	1	20145											
LPPR5	163404	broad.mit.edu	37	chr1	99387499	99387499	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	taacatctgaccaatgatttCgatattctgctactctgttg	10	16	6	9	1	3	2	0	2	3	0	4	3	3	2	1	0	3	2	1	0	4	6			TCGA-VP-A87D-01A-11D-A34U-08	TCGA-VP-A87D-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a582e00-aad2-4360-868a-9ab8fa301eaa	4ca66d58-c6b9-4c71-b209-aa0a52690c09	g.chr1:99387499C>G	ENST00000263177.4	-	4	958	c.737G>C	c.(736-738)cGa>cCa	p.R246P	LPPR5_ENST00000370188.3_Missense_Mutation_p.R246P	NM_001037317.1	NP_001032394.1	Q32ZL2	LPPR5_HUMAN		246						integral component of membrane (GO:0016021)	hydrolase activity (GO:0016787)										CCAATGATTTCGATATTCTGC	0.363																																						ENST00000370188.3																			0											c.(736-738)cGa>cCa									147	142	144					1																	99387499		2203	4300	6503	SO:0001583	missense	0					integral to membrane	hydrolase activity	g.chr1:99387499C>G																												ENST00000263177.4:c.737G>C	1.37:g.99387499C>G	ENSP00000263177:p.Arg246Pro					LPPR5_ENST00000263177.4_Missense_Mutation_p.R246P	p.R246P	NM_001010861.2	NP_001010861.1	Q32ZL2	LPPR5_HUMAN			4	1097	-			246					A8MPX4|B7UCH3|Q32ZD0|Q3ZCU7	Missense_Mutation	SNP	ENST00000263177.4	37	c.737G>C	CCDS30778.1	.	.	.	.	.	.	.	.	.	.	C	25.2	4.616048	0.87359	.	.	ENSG00000117598	ENST00000370188;ENST00000263177	T;T	0.75704	-0.96;-0.96	5.4	5.4	0.78164	Phosphatidic acid phosphatase/chloroperoxidase, N-terminal (1);	0.134093	0.52532	D	0.000064	D	0.88160	0.6362	M	0.91717	3.235	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.90467	0.4450	10	0.87932	D	0	.	18.1643	0.89719	0.0:1.0:0.0:0.0	.	246;246	Q32ZL2-2;Q32ZL2	.;LPPR5_HUMAN	P	246	ENSP00000359207:R246P;ENSP00000263177:R246P	ENSP00000263177:R246P	R	-	2	0	AL161744.1	99160087	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	7.487000	0.81328	2.528000	0.85240	0.460000	0.39030	CGA		0.363	LPPR5-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000393221.1			13	64	0	0	0	1	0	13	64					G	99387499	C	G	99387499	3	3	416	1	0	0	0	0	1	0	0	0	8928	884	31	5	240	5	LPPR5	1	99387499	Missense_Mutation	SNP	C	TCGA-VP-A87D-01A-11D-A34U-08	54951600	99387499	149863122	2	20146											
COL11A1	1301	broad.mit.edu	37	chr1	103488491	103488491	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatcctcagaatttttcctcTgggaatcataatcctctccc	9	15	4	13	0	4	1	2	0	2	1	8	2	7	2	4	1	0	0	4	1	4	4			TCGA-VP-A87D-01A-11D-A34U-08	TCGA-VP-A87D-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a582e00-aad2-4360-868a-9ab8fa301eaa	4ca66d58-c6b9-4c71-b209-aa0a52690c09	g.chr1:103488491T>C	ENST00000370096.3	-	8	1364	c.1052A>G	c.(1051-1053)cAg>cGg	p.Q351R	COL11A1_ENST00000358392.2_Missense_Mutation_p.Q363R|COL11A1_ENST00000512756.1_Intron|COL11A1_ENST00000353414.4_Missense_Mutation_p.Q312R	NM_001854.3	NP_001845.3	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	351	Nonhelical region.				cartilage condensation (GO:0001502)|chondrocyte development (GO:0002063)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|embryonic skeletal system morphogenesis (GO:0048704)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|proteoglycan metabolic process (GO:0006029)|sensory perception of sound (GO:0007605)|tendon development (GO:0035989)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visual perception (GO:0007601)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		ATTTTTCCTCTGGGAATCATA	0.338																																						ENST00000358392.2																			0				NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258						c.(1087-1089)cAg>cGg		collagen, type XI, alpha 1							64	65	65					1																	103488491		2203	4299	6502	SO:0001583	missense	1301				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging	g.chr1:103488491T>C	J04177	CCDS778.1, CCDS780.1, CCDS780.2, CCDS53348.1	1p21	2013-01-16			ENSG00000060718	ENSG00000060718		"Collagens"	2186	protein-coding gene	gene with protein product	"collagen XI, alpha-1 polypeptide"	120280		COLL6		3182841	Standard	NM_080630		Approved	STL2, CO11A1	uc001dul.3	P12107	OTTHUMG00000010872	ENST00000370096.3:c.1052A>G	1.37:g.103488491T>C	ENSP00000359114:p.Gln351Arg					COL11A1_ENST00000353414.4_Missense_Mutation_p.Q312R|COL11A1_ENST00000512756.1_Intron|COL11A1_ENST00000370096.3_Missense_Mutation_p.Q351R	p.Q363R	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)	8	1405	-		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)	351			Nonhelical region.		B1ASK7|D3DT73|E9PCU0|Q14034|Q149N0|Q9UIT4|Q9UIT5|Q9UIT6	Missense_Mutation	SNP	ENST00000370096.3	37	c.1088A>G	CCDS778.1	.	.	.	.	.	.	.	.	.	.	T	12.13	1.846988	0.32606	.	.	ENSG00000060718	ENST00000370096;ENST00000358392;ENST00000353414;ENST00000427239	D;T;D;T	0.87966	-2.29;-0.57;-2.32;-0.6	5.67	5.67	0.87782	.	0.670897	0.14762	N	0.299917	T	0.69655	0.3135	L	0.41027	1.25	0.31674	N	0.643953	B;B;B	0.28636	0.218;0.218;0.139	B;B;B	0.22601	0.04;0.04;0.018	T	0.59731	-0.7399	10	0.16420	T	0.52	.	13.4408	0.61112	0.0:0.0:0.0:1.0	.	312;363;351	P12107-3;P12107-2;P12107	.;.;COBA1_HUMAN	R	351;363;312;363	ENSP00000359114:Q351R;ENSP00000351163:Q363R;ENSP00000302551:Q312R;ENSP00000408640:Q363R	ENSP00000302551:Q312R	Q	-	2	0	COL11A1	103261079	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.542000	0.67218	2.156000	0.67533	0.523000	0.50628	CAG		0.338	COL11A1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000029997.1	NM_080630		11	55	0	0	0	1	0	11	55					C	103488491	T	C	103488491	3	2	416	1	0	0	0	0	1	0	0	0	3667	1580	55	4	4608	4	COL11A1	1	103488491	Missense_Mutation	SNP	T	TCGA-VP-A87D-01A-11D-A34U-08	4100992	103488491	145762130	3	20147											
CREB3L4	148327	broad.mit.edu	37	chr1	153945522	153945524	+	In_Frame_Del	DEL	GAA	GAA	-																															gctcaggacagtcggcggcgGaagaaggagtacattgatgg																										TCGA-VP-A87D-01A-11D-A34U-08	TCGA-VP-A87D-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a582e00-aad2-4360-868a-9ab8fa301eaa	4ca66d58-c6b9-4c71-b209-aa0a52690c09	g.chr1:153945522_153945524delGAA	ENST00000368607.3	+	6	977_979	c.711_713delGAA	c.(709-714)cggaag>cgg	p.K239del	CREB3L4_ENST00000368600.3_In_Frame_Del_p.K219del|CREB3L4_ENST00000271889.4_In_Frame_Del_p.K239del|CREB3L4_ENST00000368601.1_3'UTR|CREB3L4_ENST00000468845.1_3'UTR|CREB3L4_ENST00000368603.1_In_Frame_Del_p.K239del|JTB_ENST00000471173.1_5'Flank|CREB3L4_ENST00000405694.3_In_Frame_Del_p.K92del	NM_001255978.1|NM_001255980.1|NM_130898.3	NP_001242907.1|NP_001242909.1|NP_570968.1	Q8TEY5	CR3L4_HUMAN	cAMP responsive element binding protein 3-like 4	239	Basic motif. {ECO:0000255|PROSITE- ProRule:PRU00978}.|bZIP. {ECO:0000255|PROSITE- ProRule:PRU00978}.				response to unfolded protein (GO:0006986)|spermatogenesis (GO:0007283)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|prostate(3)	13	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			GTCGGCGGCGGAAGAAGGAGTAC	0.576																																						ENST00000368607.3																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|prostate(3)	13						c.(709-714)cgg>cg		cAMP responsive element binding protein 3-like 4																																				SO:0001651	inframe_deletion	148327				response to unfolded protein	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr1:153945522_153945524delGAA	AF394167	CCDS1056.1, CCDS58029.1	1q21.2	2013-01-10			ENSG00000143578	ENSG00000143578		"basic leucine zipper proteins"	18854	protein-coding gene	gene with protein product		607138					Standard	NM_130898		Approved	AIbZIP, CREB4, CREB3, hJAL, ATCE1	uc001fdr.3	Q8TEY5	OTTHUMG00000037159	ENST00000368607.3:c.711_713delGAA	1.37:g.153945525_153945527delGAA	ENSP00000357596:p.Lys239del					CREB3L4_ENST00000405694.3_In_Frame_Del_p.RK90del|CREB3L4_ENST00000468845.1_3'UTR|CREB3L4_ENST00000368600.3_In_Frame_Del_p.RK217del|CREB3L4_ENST00000368601.1_3'UTR|CREB3L4_ENST00000271889.4_In_Frame_Del_p.RK237del|CREB3L4_ENST00000368603.1_In_Frame_Del_p.RK237del	p.RK237del	NM_001255978.1|NM_001255980.1|NM_130898.3	NP_001242907.1|NP_001242909.1|NP_570968.1	Q8TEY5	CR3L4_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.151)		6	977_979	+	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		237					D3DV62|Q5T4L0|Q86YW6	In_Frame_Del	DEL	ENST00000368607.3	37	c.711_713delGAA	CCDS1056.1																																																																																				0.576	CREB3L4-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000090291.1	NM_130898		10	71						10	71	---	---	---	---	-	153945524	GAA	-	153945522	7	5	416	1	0	1	0	1	0	0	0	0	3859	1161	41	0	729	0	CREB3L4	1	153945522	In_Frame_Del	DEL	GAA	TCGA-VP-A87D-01A-11D-A34U-08	50457031	153945522	95305099	4	20148											
BCAN	63827	broad.mit.edu	37	chr1	156618650	156618650	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcttcaacgtctactgcttcCgaggtgagcccacctccctg	6	10	9	16	2	2	1	1	1	1	0	4	2	4	1	4	1	4	2	4	1	2	3			TCGA-VP-A87D-01A-11D-A34U-08	TCGA-VP-A87D-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a582e00-aad2-4360-868a-9ab8fa301eaa	4ca66d58-c6b9-4c71-b209-aa0a52690c09	g.chr1:156618650C>T	ENST00000329117.5	+	6	1396	c.1060C>T	c.(1060-1062)Cga>Tga	p.R354*	RP11-284F21.7_ENST00000448869.1_RNA|BCAN_ENST00000361588.5_Nonsense_Mutation_p.R354*	NM_021948.4	NP_068767.3	Q96GW7	PGCB_HUMAN	brevican	354	Link 2. {ECO:0000255|PROSITE- ProRule:PRU00323}.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|hippocampus development (GO:0021766)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)	carbohydrate binding (GO:0030246)|hyaluronic acid binding (GO:0005540)			cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	55	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					CTACTGCTTCCGAGGTGAGCC	0.557																																						ENST00000329117.4																			0				cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	55						c.(1060-1062)Cga>Tga		brevican							72	74	74					1																	156618650		2202	4299	6501	SO:0001587	stop_gained	63827				cell adhesion	anchored to membrane|proteinaceous extracellular matrix	hyaluronic acid binding|sugar binding	g.chr1:156618650C>T	BC027971	CCDS1149.1, CCDS1150.1	1q31	2013-05-07			ENSG00000132692	ENSG00000132692		"Immunoglobulin superfamily / V-set domain containing", "Proteoglycans / Extracellular Matrix : Hyalectans"	23059	protein-coding gene	gene with protein product	"chondroitin sulfate proteoglycan 7", "brevican proteoglycan"	600347				11054543, 11873941	Standard	NM_021948		Approved	BEHAB, MGC13038, CSPG7	uc001fpp.3	Q96GW7	OTTHUMG00000033322	ENST00000329117.5:c.1060C>T	1.37:g.156618650C>T	ENSP00000331210:p.Arg354*					BCAN_ENST00000361588.5_Nonsense_Mutation_p.R354*|RP11-284F21.7_ENST00000448869.1_RNA	p.R354*	NM_021948.4	NP_068767.3	Q96GW7	PGCB_HUMAN			6	1396	+	all_hematologic(923;0.088)|Hepatocellular(266;0.158)		354			Link 2.		D3DVC2|Q5SZ10|Q5T3I5|Q8TBB9|Q9HBK1|Q9HBK4	Nonsense_Mutation	SNP	ENST00000329117.5	37	c.1060C>T	CCDS1149.1	.	.	.	.	.	.	.	.	.	.	C	31	5.067820	0.93950	.	.	ENSG00000132692	ENST00000255029;ENST00000329117;ENST00000361588	.	.	.	4.72	-0.163	0.13363	.	0.104475	0.33631	N	0.004716	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-5.9409	13.4383	0.61096	0.6072:0.3928:0.0:0.0	.	.	.	.	X	295;354;354	.	ENSP00000255029:R295X	R	+	1	2	BCAN	154885274	0.907000	0.30839	1.000000	0.80357	0.993000	0.82548	0.022000	0.13511	0.143000	0.18926	0.462000	0.41574	CGA		0.557	BCAN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081844.2	NM_021948		9	74	0	0	0	1	0	9	74					T	156618650	C	T	156618650	4	4	416	1	0	0	0	0	0	1	0	0	1345	644	23	2	1078	2	BCAN	1	156618650	Nonsense_Mutation	SNP	C	TCGA-VP-A87D-01A-11D-A34U-08	2673128	156618650	92631971	5	20149											
SLC9A11	284525	broad.mit.edu	37	chr1	173495815	173495815	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacctacctaattctttgacAgcatcctgtttgttggtttc	7	18	6	10	0	1	1	0	1	1	0	3	1	2	1	3	1	3	4	3	1	3	8			TCGA-VP-A87D-01A-11D-A34U-08	TCGA-VP-A87D-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a582e00-aad2-4360-868a-9ab8fa301eaa	4ca66d58-c6b9-4c71-b209-aa0a52690c09	g.chr1:173495815A>G	ENST00000367714.3	-	19	2774	c.2352T>C	c.(2350-2352)gcT>gcC	p.A784A	SLC9C2_ENST00000466087.1_5'UTR|SLC9C2_ENST00000536496.1_3'UTR	NM_178527.3	NP_848622.2	Q5TAH2	SL9C2_HUMAN	solute carrier family 9, member C2 (putative)	784					sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)	solute:proton antiporter activity (GO:0015299)										ATTCTTTGACAGCATCCTGTT	0.259																																						ENST00000367714.3																			0											c.(2350-2352)gcT>gcC		solute carrier family 9, member C2 (putative)							97	97	97					1																	173495815		2203	4300	6503	SO:0001819	synonymous_variant	284525				sodium ion transport	integral to membrane	ion channel activity|solute:hydrogen antiporter activity	g.chr1:173495815A>G	AK128104	CCDS1308.1	1q25.1	2013-07-18	2013-07-18	2012-03-22	ENSG00000162753	ENSG00000162753		"Solute carriers"	28664	protein-coding gene	gene with protein product			"solute carrier family 9, isoform 11", "solute carrier family 9, member 11", "solute carrier family 9, member C2"	SLC9A11			Standard	NM_178527		Approved	MGC43026	uc001giz.2	Q5TAH2	OTTHUMG00000034800	ENST00000367714.3:c.2352T>C	1.37:g.173495815A>G						SLC9C2_ENST00000536496.1_3'UTR|SLC9C2_ENST00000466087.1_5'UTR	p.A784A	NM_178527.3	NP_848622.2	Q5TAH2	S9A11_HUMAN			19	2774	-			784					Q86UF3	Silent	SNP	ENST00000367714.3	37	c.2352T>C	CCDS1308.1																																																																																				0.259	SLC9C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084205.1	NM_178527		10	62	0	0	0	1	0	10	62					G	173495815	A	G	173495815	2	3	416	1	0	0	0	0	0	0	0	1	14711	175	7	4		4	SLC9A11	1	173495815	Silent	SNP	A	TCGA-VP-A87D-01A-11D-A34U-08	16877165	173495815	75754806	6	20150											
XPR1	9213	broad.mit.edu	37	chr1	180833005	180833005	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gggaagagattgtataccccCaaaaagtatgtataaagagt	17	9	10	5	0	0	2	0	0	0	2	0	4	0	3	2	1	1	3	2	1	9	6			TCGA-VP-A87D-01A-11D-A34U-08	TCGA-VP-A87D-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a582e00-aad2-4360-868a-9ab8fa301eaa	4ca66d58-c6b9-4c71-b209-aa0a52690c09	g.chr1:180833005C>A	ENST00000367590.4	+	12	1861	c.1663C>A	c.(1663-1665)Caa>Aaa	p.Q555K	XPR1_ENST00000367589.3_Missense_Mutation_p.Q490K	NM_004736.3	NP_004727.2	Q9UBH6	XPR1_HUMAN	xenotropic and polytropic retrovirus receptor 1	555	EXS. {ECO:0000255|PROSITE- ProRule:PRU00712}.				G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)|virus receptor activity (GO:0001618)			breast(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	35						TGTATACCCCCAAAAAGTATG	0.408																																						ENST00000367590.4																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	35						c.(1663-1665)Caa>Aaa		xenotropic and polytropic retrovirus receptor 1							68	69	69					1																	180833005		2203	4300	6503	SO:0001583	missense	9213					integral to plasma membrane	G-protein coupled receptor activity	g.chr1:180833005C>A	AF099082	CCDS1340.1, CCDS44284.1	1q25.1	2013-07-18	2010-04-23		ENSG00000143324	ENSG00000143324			12827	protein-coding gene	gene with protein product		605237	"xenotropic and polytropic retrovirus receptor"			9990033	Standard	NM_004736		Approved	SYG1, X3	uc001goi.3	Q9UBH6	OTTHUMG00000035116	ENST00000367590.4:c.1663C>A	1.37:g.180833005C>A	ENSP00000356562:p.Gln555Lys					XPR1_ENST00000367589.3_Missense_Mutation_p.Q490K	p.Q555K	NM_004736.3	NP_004727.2	Q9UBH6	XPR1_HUMAN			12	1861	+			555			EXS.		O95719|Q7L8K9|Q8IW20|Q9NT19|Q9UFB9	Missense_Mutation	SNP	ENST00000367590.4	37	c.1663C>A	CCDS1340.1	.	.	.	.	.	.	.	.	.	.	C	17.68	3.449522	0.63178	.	.	ENSG00000143324	ENST00000367590;ENST00000367589	T;T	0.39787	1.06;1.06	5.49	5.49	0.81192	EXS, C-terminal (2);	0.050624	0.85682	D	0.000000	T	0.32645	0.0836	N	0.25201	0.72	0.46044	D	0.998831	B;B	0.14438	0.01;0.004	B;B	0.15052	0.012;0.012	T	0.06499	-1.0823	10	0.22706	T	0.39	-9.5028	18.9709	0.92715	0.0:1.0:0.0:0.0	.	490;555	Q9UBH6-2;Q9UBH6	.;XPR1_HUMAN	K	555;490	ENSP00000356562:Q555K;ENSP00000356561:Q490K	ENSP00000356561:Q490K	Q	+	1	0	XPR1	179099628	1.000000	0.71417	1.000000	0.80357	0.772000	0.43724	7.711000	0.84669	2.577000	0.86979	0.655000	0.94253	CAA		0.408	XPR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084996.2	NM_004736		4	82	1	0	0.00024832	1	0.00026873	4	82					A	180833005	C	A	180833005	3	1	416	1	0	0	0	0	1	0	0	0	17448	595	21	5	1709	5	XPR1	1	180833005	Missense_Mutation	SNP	C	TCGA-VP-A87D-01A-11D-A34U-08	7337190	180833005	68417616	7	20151											
CACNA1E	777	broad.mit.edu	37	chr1	181702649	181702649	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ctgacacccccctagtcctgCcccatcctgagctggaagtg	7	8	9	17	0	0	2	0	2	0	0	2	3	2	3	7	1	2	1	7	1	2	1			TCGA-VP-A87D-01A-11D-A34U-08	TCGA-VP-A87D-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a582e00-aad2-4360-868a-9ab8fa301eaa	4ca66d58-c6b9-4c71-b209-aa0a52690c09	g.chr1:181702649C>T	ENST00000367573.2	+	21	3025	c.3025C>T	c.(3025-3027)Ccc>Tcc	p.P1009S	CACNA1E_ENST00000526775.1_Missense_Mutation_p.P990S|CACNA1E_ENST00000367570.1_Missense_Mutation_p.P1009S|CACNA1E_ENST00000357570.5_Missense_Mutation_p.P960S|CACNA1E_ENST00000360108.3_Missense_Mutation_p.P990S|CACNA1E_ENST00000358338.5_Missense_Mutation_p.P941S|CACNA1E_ENST00000367567.4_Missense_Mutation_p.P616S	NM_001205293.1	NP_001192222.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	1009					calcium ion import (GO:0070509)|energy reserve metabolic process (GO:0006112)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|voltage-gated calcium channel activity (GO:0005245)			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						CCTAGTCCTGCCCCATCCTGA	0.612																																						ENST00000526775.1																			0				NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						c.(2968-2970)Ccc>Tcc		calcium channel, voltage-dependent, R type, alpha 1E subunit							48	55	53					1																	181702649		2129	4248	6377	SO:0001583	missense	777				energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr1:181702649C>T	AK096563	CCDS53443.1, CCDS55664.1, CCDS55665.1	1q25.3	2013-01-10	2007-02-16		ENSG00000198216	ENSG00000198216		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels", "EF-hand domain containing"	1392	protein-coding gene	gene with protein product		601013		CACNL1A6		8388125, 16382099	Standard	NM_001205293		Approved	Cav2.3, BII, CACH6	uc009wxt.3	Q15878	OTTHUMG00000037301	ENST00000367573.2:c.3025C>T	1.37:g.181702649C>T	ENSP00000356545:p.Pro1009Ser					CACNA1E_ENST00000357570.5_Missense_Mutation_p.P960S|CACNA1E_ENST00000358338.5_Missense_Mutation_p.P941S|CACNA1E_ENST00000360108.3_Missense_Mutation_p.P990S|CACNA1E_ENST00000367573.2_Missense_Mutation_p.P1009S|CACNA1E_ENST00000367570.1_Missense_Mutation_p.P1009S|CACNA1E_ENST00000367567.4_Missense_Mutation_p.P616S	p.P990S	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN			20	3133	+			1009					B1AM12|B1AM13|B1AM14|Q14580|Q14581	Missense_Mutation	SNP	ENST00000367573.2	37	c.2968C>T	CCDS55664.1	.	.	.	.	.	.	.	.	.	.	C	8.463	0.855804	0.17106	.	.	ENSG00000198216	ENST00000367570;ENST00000526775;ENST00000357570;ENST00000358338;ENST00000367567;ENST00000360108;ENST00000367573	D;D;D;D;D;D;D	0.95853	-3.76;-3.76;-3.77;-3.76;-3.83;-3.77;-3.77	4.19	2.03	0.26663	.	1.451030	0.04112	N	0.314851	D	0.88093	0.6344	N	0.08118	0	0.09310	N	0.999997	B;B;B	0.11235	0.002;0.004;0.002	B;B;B	0.10450	0.005;0.003;0.005	T	0.79097	-0.1943	10	0.09843	T	0.71	.	7.6365	0.28270	0.0:0.7194:0.1726:0.1079	.	990;1009;1009	Q15878-2;Q15878;Q15878-3	.;CAC1E_HUMAN;.	S	1009;990;960;941;616;990;1009	ENSP00000356542:P1009S;ENSP00000434814:P990S;ENSP00000350183:P960S;ENSP00000351101:P941S;ENSP00000356539:P616S;ENSP00000353222:P990S;ENSP00000356545:P1009S	ENSP00000350183:P960S	P	+	1	0	CACNA1E	179969272	0.000000	0.05858	0.043000	0.18650	0.019000	0.09904	0.057000	0.14279	0.921000	0.36994	0.462000	0.41574	CCC		0.612	CACNA1E-003	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090793.2	NM_000721		9	19	0	0	0	1	0	9	19					T	181702649	C	T	181702649	3	4	416	1	0	0	0	0	1	0	0	0	2542	739	26	3	3107	3	CACNA1E	1	181702649	Missense_Mutation	SNP	C	TCGA-VP-A87D-01A-11D-A34U-08	869644	181702649	67547972	8	20152											
C4BPA	722	broad.mit.edu	37	chr1	207317225	207317225	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tggataaggatcagtatgttGagcctgaaaatgtcaccatc	13	11	10	7	0	2	2	2	2	0	0	3	4	2	4	2	2	1	2	2	2	4	3			TCGA-VP-A87D-01A-11D-A34U-08	TCGA-VP-A87D-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a582e00-aad2-4360-868a-9ab8fa301eaa	4ca66d58-c6b9-4c71-b209-aa0a52690c09	g.chr1:207317225G>A	ENST00000367070.3	+	11	1701	c.1507G>A	c.(1507-1509)Gag>Aag	p.E503K		NM_000715.3	NP_000706.1	P04003	C4BPA_HUMAN	complement component 4 binding protein, alpha	503	Sushi 8. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)|negative regulation of complement activation, classical pathway (GO:0045959)|positive regulation of protein catabolic process (GO:0045732)|regulation of complement activation (GO:0030449)|regulation of opsonization (GO:1903027)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|other organism cell (GO:0044216)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)|skin(1)|urinary_tract(2)	28						TCAGTATGTTGAGCCTGAAAA	0.433																																						ENST00000367070.3																			0				breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)|skin(1)|urinary_tract(2)	28						c.(1507-1509)Gag>Aag		complement component 4 binding protein, alpha							237	208	218					1																	207317225		2203	4300	6503	SO:0001583	missense	722				complement activation, classical pathway|innate immune response	extracellular region	protein binding	g.chr1:207317225G>A	M31452	CCDS1477.1	1q32	2010-09-24	2001-11-28		ENSG00000123838	ENSG00000123838			1325	protein-coding gene	gene with protein product		120830	"complement component 4-binding protein, alpha"	C4BP			Standard	XM_005273251		Approved		uc001hfo.3	P04003	OTTHUMG00000036173	ENST00000367070.3:c.1507G>A	1.37:g.207317225G>A	ENSP00000356037:p.Glu503Lys						p.E503K	NM_000715.3	NP_000706.1	P04003	C4BPA_HUMAN			11	1701	+			503			Sushi 8.		Q5VVQ8	Missense_Mutation	SNP	ENST00000367070.3	37	c.1507G>A	CCDS1477.1	.	.	.	.	.	.	.	.	.	.	G	17.53	3.413416	0.62511	.	.	ENSG00000123838	ENST00000367070	T	0.65549	-0.16	5.29	2.35	0.29111	Complement control module (2);Sushi/SCR/CCP (3);	0.672868	0.13688	N	0.369728	T	0.73337	0.3574	M	0.84683	2.71	0.09310	N	1	P	0.52316	0.952	P	0.58620	0.842	T	0.60291	-0.7292	10	0.36615	T	0.2	.	6.0393	0.19726	0.1815:0.1709:0.6475:0.0	.	503	P04003	C4BPA_HUMAN	K	503	ENSP00000356037:E503K	ENSP00000356037:E503K	E	+	1	0	C4BPA	205383848	0.013000	0.17824	0.005000	0.12908	0.123000	0.20343	0.993000	0.29680	0.724000	0.32296	0.650000	0.86243	GAG		0.433	C4BPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088089.3			4	53	0	0	0	1	0	4	53					A	207317225	G	A	207317225	3	1	416	1	0	0	0	0	1	0	0	0	2249	1291	45	3	1545	3	C4BPA	1	207317225	Missense_Mutation	SNP	G	TCGA-VP-A87D-01A-11D-A34U-08	25614576	207317225	41933396	9	20153											
C1orf96	126731	broad.mit.edu	37	chr1	229462538	229462538	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agtcttctggcttcctgtatCggtctgtttttctccccagc	3	17	8	13	1	4	0	0	0	4	0	7	0	5	0	3	2	1	3	3	2	1	5			TCGA-VP-A87D-01A-11D-A34U-08	TCGA-VP-A87D-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a582e00-aad2-4360-868a-9ab8fa301eaa	4ca66d58-c6b9-4c71-b209-aa0a52690c09	g.chr1:229462538C>T	ENST00000366687.1	-	2	634	c.583G>A	c.(583-585)Gat>Aat	p.D195N	CCSAP_ENST00000284617.2_Missense_Mutation_p.D195N|CCSAP_ENST00000366686.1_Missense_Mutation_p.D81N|CCSAP_ENST00000483092.1_5'UTR			Q6IQ19	CCSAP_HUMAN	centriole, cilia and spindle-associated protein	195					multicellular organismal development (GO:0007275)|regulation of cilium beat frequency involved in ciliary motility (GO:0060296)|regulation of embryonic development (GO:0045995)	axon (GO:0030424)|axoneme (GO:0005930)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|ciliary transition zone (GO:0035869)|cilium (GO:0005929)|spindle (GO:0005819)											CTTCCTGTATCGGTCTGTTTT	0.498																																						ENST00000284617.2																			0											c.(583-585)Gat>Aat		centriole, cilia and spindle-associated protein							216	186	196					1																	229462538		2203	4300	6503	SO:0001583	missense	126731							g.chr1:229462538C>T	BC071609	CCDS1577.1	1q42.13	2012-06-19	2012-06-19	2012-06-19	ENSG00000154429	ENSG00000154429			29578	protein-coding gene	gene with protein product	"centriole and spindle-associated protein"		"chromosome 1 open reading frame 96"	C1orf96		22493317	Standard	NM_145257		Approved	FLJ41471, CSAP	uc001htl.4	Q6IQ19	OTTHUMG00000037663	ENST00000366687.1:c.583G>A	1.37:g.229462538C>T	ENSP00000355648:p.Asp195Asn					CCSAP_ENST00000483092.1_5'UTR|CCSAP_ENST00000366687.1_Missense_Mutation_p.D195N|CCSAP_ENST00000366686.1_Missense_Mutation_p.D81N	p.D195N	NM_145257.3	NP_660300.3					3	707	-								A8K5X2|Q6P9G2|Q6ZW85|Q8IXU1|Q96BM2	Missense_Mutation	SNP	ENST00000366687.1	37	c.583G>A	CCDS1577.1	.	.	.	.	.	.	.	.	.	.	C	14.24	2.477322	0.44044	.	.	ENSG00000154429	ENST00000366687;ENST00000284617;ENST00000366686	T;T;T	0.53640	0.68;0.68;0.61	5.46	4.55	0.56014	.	0.098886	0.64402	D	0.000003	T	0.63780	0.2540	M	0.64997	1.995	0.48341	D	0.999634	D	0.89917	1.0	D	0.72338	0.977	T	0.65442	-0.6167	10	0.54805	T	0.06	-28.8556	12.5655	0.56308	0.0:0.9234:0.0:0.0766	.	195	Q6IQ19	CA096_HUMAN	N	195;195;81	ENSP00000355648:D195N;ENSP00000284617:D195N;ENSP00000355647:D81N	ENSP00000284617:D195N	D	-	1	0	C1orf96	227529161	0.985000	0.35326	0.003000	0.11579	0.000000	0.00434	3.154000	0.50693	1.314000	0.45095	-0.140000	0.14226	GAT		0.498	CCSAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091839.1	NM_145257		53	87	0	0	0	1	0	53	87					T	229462538	C	T	229462538	3	4	416	1	0	0	0	0	1	0	0	0	2073	884	31	2	237	2	C1orf96	1	229462538	Missense_Mutation	SNP	C	TCGA-VP-A87D-01A-11D-A34U-08	22145313	229462538	19788083	10	20154											
CD207	50489	broad.mit.edu	37	chr2	71058207	71058207	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttctgatgggacatagggtcGcttacaaatgaaaagaaacg	15	9	11	6	2	1	3	0	2	1	1	2	4	1	4	0	2	2	1	0	2	6	3	rs370350846		TCGA-VP-A87D-01A-11D-A34U-08	TCGA-VP-A87D-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a582e00-aad2-4360-868a-9ab8fa301eaa	4ca66d58-c6b9-4c71-b209-aa0a52690c09	g.chr2:71058207G>A	ENST00000410009.3	-	6	1006	c.961C>T	c.(961-963)Cga>Tga	p.R321*		NM_015717.3	NP_056532	Q9UJ71	CLC4K_HUMAN	CD207 molecule, langerin	321					antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|defense response to virus (GO:0051607)	clathrin-coated endocytic vesicle membrane (GO:0030669)|early endosome membrane (GO:0031901)|endocytic vesicle (GO:0030139)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|mannose binding (GO:0005537)			endometrium(1)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|stomach(1)	20						ACATAGGGTCGCTTACAAATG	0.478																																						ENST00000410009.3																			0				endometrium(1)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|stomach(1)	20						c.(961-963)Cga>Tga		CD207 molecule, langerin		G	stop/ARG	2,3876		0,2,1937	101	94	96		961	1.8	0.1	2		96	0,8274		0,0,4137	no	stop-gained	CD207	NM_015717.3		0,2,6074	AA,AG,GG		0.0,0.0516,0.0165		321/329	71058207	2,12150	1939	4137	6076	SO:0001587	stop_gained	50489				defense response to virus	endocytic vesicle|integral to membrane	mannose binding	g.chr2:71058207G>A	AJ242859	CCDS74520.1	2p13	2011-08-30	2006-03-28		ENSG00000116031	ENSG00000116031		"C-type lectin domain containing", "CD molecules"	17935	protein-coding gene	gene with protein product		604862	"CD207 antigen, langerin"			10661407, 9847074	Standard	NM_015717		Approved	Langerin, CLEC4K	uc002shg.3	Q9UJ71	OTTHUMG00000153176	ENST00000410009.3:c.961C>T	2.37:g.71058207G>A	ENSP00000386378:p.Arg321*						p.R321*	NM_015717.3	NP_056532.3	Q9UJ71	CLC4K_HUMAN			6	1006	-			321						Nonsense_Mutation	SNP	ENST00000410009.3	37	c.961C>T		.	.	.	.	.	.	.	.	.	.	G	17.25	3.341387	0.60963	5.16E-4	0.0	ENSG00000116031	ENST00000410009	.	.	.	3.79	1.81	0.25067	.	0.799060	0.10639	N	0.651214	.	.	.	.	.	.	0.35469	D	0.797166	.	.	.	.	.	.	.	.	.	.	0.23891	T	0.37	.	8.2683	0.31829	0.0:0.0:0.5478:0.4522	.	.	.	.	X	321	.	ENSP00000386378:R321X	R	-	1	2	CD207	70911715	0.202000	0.23423	0.081000	0.20488	0.118000	0.20060	0.149000	0.16243	0.483000	0.27608	0.643000	0.83706	CGA		0.478	CD207-001	KNOWN	non_canonical_conserved|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000329959.4	NM_015717		5	25	0	0	0	1	0	5	25					A	71058207	G	A	71058207	4	1	416	1	0	0	0	0	0	1	0	0	2983	1095	38	1	29	1	CD207	2	71058207	Nonsense_Mutation	SNP	G	TCGA-VP-A87D-01A-11D-A34U-08		71058207	172141166	11	20155											
RETSAT	54884	broad.mit.edu	37	chr2	85578964	85578964	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccaccacatccagcttctccGgcacttggttggctgaaaaa	10	9	8	14	1	1	1	0	1	1	0	3	1	2	1	4	3	1	4	4	3	2	3	rs151321935		TCGA-VP-A87D-01A-11D-A34U-08	TCGA-VP-A87D-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a582e00-aad2-4360-868a-9ab8fa301eaa	4ca66d58-c6b9-4c71-b209-aa0a52690c09	g.chr2:85578964G>A	ENST00000295802.4	-	2	306	c.194C>T	c.(193-195)cCg>cTg	p.P65L	ELMOD3_ENST00000409890.2_5'Flank|RETSAT_ENST00000263854.6_Missense_Mutation_p.P65L|ELMOD3_ENST00000393852.4_5'Flank|ELMOD3_ENST00000428955.2_5'Flank|RETSAT_ENST00000457495.2_Intron|ELMOD3_ENST00000315658.7_5'Flank|ELMOD3_ENST00000409344.3_5'Flank|ELMOD3_ENST00000409013.3_5'Flank	NM_017750.3	NP_060220.3	Q6NUM9	RETST_HUMAN	retinol saturase (all-trans-retinol 13,14-reductase)	65					oxidation-reduction process (GO:0055114)|retinol metabolic process (GO:0042572)	endoplasmic reticulum membrane (GO:0005789)|membrane (GO:0016020)|nuclear membrane (GO:0031965)|nuclear outer membrane (GO:0005640)	all-trans-retinol 13,14-reductase activity (GO:0051786)|oxidoreductase activity (GO:0016491)			NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	30					Vitamin A(DB00162)	CAGCTTCTCCGGCACTTGGTT	0.532													G|||	1	0.000199681	0	0	5008	,	,		18528	0		0	False		,,,				2504	0.001					ENST00000295802.4																			0				NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	30						c.(193-195)cCg>cTg		retinol saturase (all-trans-retinol 13,14-reductase)	Vitamin A(DB00162)	G	LEU/PRO	0,4406		0,0,2203	56	56	56		194	5.4	1	2	dbSNP_134	56	2,8598	2.2+/-6.3	0,2,4298	no	missense	RETSAT	NM_017750.3	98	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	possibly-damaging	65/611	85578964	2,13004	2203	4300	6503	SO:0001583	missense	54884				retinol metabolic process	endoplasmic reticulum membrane|nuclear outer membrane	all-trans-retinol 13,14-reductase activity|electron carrier activity	g.chr2:85578964G>A	AK075261	CCDS1972.1	2p11.2	2008-02-05			ENSG00000042445	ENSG00000042445	1.3.99.23		25991	protein-coding gene	gene with protein product						12975309, 15358783	Standard	NM_017750		Approved	FLJ20296	uc002spd.3	Q6NUM9	OTTHUMG00000154611	ENST00000295802.4:c.194C>T	2.37:g.85578964G>A	ENSP00000295802:p.Pro65Leu					RETSAT_ENST00000263854.6_Missense_Mutation_p.P65L|RETSAT_ENST00000457495.2_Intron	p.P65L	NM_017750.3	NP_060220.3	Q6NUM9	RETST_HUMAN			2	306	-			65					A6NIK3|Q53R95|Q53SA9|Q6UX05|Q8N2H5|Q96FA4|Q9NXE5	Missense_Mutation	SNP	ENST00000295802.4	37	c.194C>T	CCDS1972.1	.	.	.	.	.	.	.	.	.	.	G	31	5.067338	0.93898	0.0	2.33E-4	ENSG00000042445	ENST00000295802;ENST00000263854	T;T	0.61627	0.09;0.09	5.42	5.42	0.78866	.	0.000000	0.85682	D	0.000000	T	0.73329	0.3573	M	0.83953	2.67	0.80722	D	1	D	0.67145	0.996	P	0.55303	0.773	T	0.78303	-0.2256	10	0.72032	D	0.01	-9.6653	16.7234	0.85416	0.0:0.0:1.0:0.0	.	65	Q6NUM9	RETST_HUMAN	L	65	ENSP00000295802:P65L;ENSP00000263854:P65L	ENSP00000263854:P65L	P	-	2	0	RETSAT	85432475	1.000000	0.71417	0.996000	0.52242	0.901000	0.52897	9.611000	0.98342	2.559000	0.86315	0.650000	0.86243	CCG		0.532	RETSAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252489.1	NM_017750		28	31	0	0	0	1	0	28	31					A	85578964	G	A	85578964	3	1	416	1	0	0	0	0	1	0	0	0	13238	1116	39	2	1678	2	RETSAT	2	85578964	Missense_Mutation	SNP	G	TCGA-VP-A87D-01A-11D-A34U-08	14520757	85578964	157620409	12	20156											
TTC30A	92104	broad.mit.edu	37	chr2	178481831	178481831	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attttccgatttgggtcatcAtaagagagctgctcttcctc	8	15	8	10	1	3	1	2	0	1	1	6	3	5	1	2	1	2	2	2	1	1	5			TCGA-VP-A87D-01A-11D-A34U-08	TCGA-VP-A87D-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a582e00-aad2-4360-868a-9ab8fa301eaa	4ca66d58-c6b9-4c71-b209-aa0a52690c09	g.chr2:178481831A>G	ENST00000355689.5	-	1	1863	c.1599T>C	c.(1597-1599)taT>taC	p.Y533Y	AC073834.3_ENST00000357045.4_RNA	NM_152275.3	NP_689488.3	Q86WT1	TT30A_HUMAN	tetratricopeptide repeat domain 30A	533					cilium assembly (GO:0042384)|intraciliary transport (GO:0042073)	cilium (GO:0005929)|intraciliary transport particle B (GO:0030992)				autonomic_ganglia(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	30			OV - Ovarian serous cystadenocarcinoma(117;0.000423)|Epithelial(96;0.00373)|all cancers(119;0.0169)			TTGGGTCATCATAAGAGAGCT	0.388																																						ENST00000355689.4																			0				autonomic_ganglia(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						c.(1597-1599)taT>taC		tetratricopeptide repeat domain 30A							231	241	238					2																	178481831		2203	4300	6503	SO:0001819	synonymous_variant	92104				cell projection organization	cilium	binding	g.chr2:178481831A>G	AK024008	CCDS2276.1	2q31.2	2013-01-11			ENSG00000197557	ENSG00000197557		"Tetratricopeptide (TTC) repeat domain containing"	25853	protein-coding gene	gene with protein product						12477932	Standard	NM_152275		Approved	FLJ13946	uc002ulo.3	Q86WT1	OTTHUMG00000132528	ENST00000355689.5:c.1599T>C	2.37:g.178481831A>G						AC073834.3_ENST00000357045.4_RNA	p.Y533Y	NM_152275.3	NP_689488.3	Q86WT1	TT30A_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.000423)|Epithelial(96;0.00373)|all cancers(119;0.0169)		1	1863	-			533					A8K8N0|Q8IVP2	Silent	SNP	ENST00000355689.5	37	c.1599T>C	CCDS2276.1																																																																																				0.388	TTC30A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255728.2	NM_152275		101	172	0	0	0	1	0	101	172					G	178481831	A	G	178481831	2	3	416	1	0	0	0	0	0	0	0	1	16695	224	8	4		4	TTC30A	2	178481831	Silent	SNP	A	TCGA-VP-A87D-01A-11D-A34U-08	92902867	178481831	64717542	13	20157											
OSBPL6	114880	broad.mit.edu	37	chr2	179188942	179188942	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aggactgcttcctctagcacCgagccctctgtaagtcggca	8	9	10	14	2	2	0	0	0	2	0	4	2	3	1	3	2	3	4	3	2	2	3	rs139099797		TCGA-VP-A87D-01A-11D-A34U-08	TCGA-VP-A87D-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a582e00-aad2-4360-868a-9ab8fa301eaa	4ca66d58-c6b9-4c71-b209-aa0a52690c09	g.chr2:179188942C>T	ENST00000190611.4	+	4	517	c.141C>T	c.(139-141)acC>acT	p.T47T	OSBPL6_ENST00000359685.3_Silent_p.T47T|OSBPL6_ENST00000357080.4_Silent_p.T47T|OSBPL6_ENST00000477097.1_3'UTR|OSBPL6_ENST00000409045.3_Silent_p.T47T|OSBPL6_ENST00000315022.2_Silent_p.T26T|OSBPL6_ENST00000409631.1_Silent_p.T47T|OSBPL6_ENST00000392505.2_Silent_p.T47T	NM_032523.3	NP_115912.1	Q9BZF3	OSBL6_HUMAN	oxysterol binding protein-like 6	47					lipid transport (GO:0006869)	cytosol (GO:0005829)|nuclear membrane (GO:0031965)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(18)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00578)|Epithelial(96;0.00847)|all cancers(119;0.0335)			CCTCTAGCACCGAGCCCTCTG	0.488																																						ENST00000190611.4																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(18)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	46						c.(139-141)acC>acT		oxysterol binding protein-like 6		C	,,,,	0,4406		0,0,2203	78	68	71		141,141,141,141,78	-11.9	0.2	2	dbSNP_134	71	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	OSBPL6	NM_001201480.1,NM_001201481.1,NM_001201482.1,NM_032523.3,NM_145739.2	,,,,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,,,,	47/960,47/904,47/899,47/935,26/939	179188942	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	114880				lipid transport		lipid binding	g.chr2:179188942C>T	AF392448	CCDS2277.1, CCDS2278.1, CCDS56150.1, CCDS56151.1, CCDS56152.1	2q32.1	2008-05-27			ENSG00000079156	ENSG00000079156		"Oxysterol binding proteins"	16388	protein-coding gene	gene with protein product	"OSBP-related protein 6"	606734				11483621	Standard	NM_001201480		Approved	ORP6	uc002uly.3	Q9BZF3	OTTHUMG00000132579	ENST00000190611.4:c.141C>T	2.37:g.179188942C>T						OSBPL6_ENST00000409631.1_Silent_p.T47T|OSBPL6_ENST00000409045.3_Silent_p.T47T|OSBPL6_ENST00000477097.1_3'UTR|OSBPL6_ENST00000357080.4_Silent_p.T47T|OSBPL6_ENST00000315022.2_Silent_p.T26T|OSBPL6_ENST00000392505.2_Silent_p.T47T|OSBPL6_ENST00000359685.3_Silent_p.T47T	p.T47T	NM_032523.3	NP_115912.1	Q9BZF3	OSBL6_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00578)|Epithelial(96;0.00847)|all cancers(119;0.0335)		4	517	+			47					B4DTW1|C4AMC0|C4AME4|D3DPF6|D3DPF7|Q4ZG68|Q53T68|Q59H61|Q7Z4Q1|Q86V84|Q8N9T0|Q96SR1	Silent	SNP	ENST00000190611.4	37	c.141C>T	CCDS2277.1																																																																																				0.488	OSBPL6-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000334393.2	NM_032523		9	21	0	0	0	1	0	9	21					T	179188942	C	T	179188942	2	4	416	1	0	0	0	0	0	0	0	1	11281	639	23	2		2	OSBPL6	2	179188942	Silent	SNP	C	TCGA-VP-A87D-01A-11D-A34U-08	707111	179188942	64010431	14	20158											
CCDC71	64925	broad.mit.edu	37	chr3	49200341	49200341	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcacctcatcatccgaggacCgcctatctacctttatggca	9	10	7	15	2	3	0	2	0	1	0	4	2	4	1	5	2	1	2	5	2	3	4			TCGA-VP-A87D-01A-11D-A34U-08	TCGA-VP-A87D-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a582e00-aad2-4360-868a-9ab8fa301eaa	4ca66d58-c6b9-4c71-b209-aa0a52690c09	g.chr3:49200341C>T	ENST00000321895.6	-	2	1407	c.1301G>A	c.(1300-1302)cGg>cAg	p.R434Q		NM_022903.3	NP_075054.3	Q8IV32	CCD71_HUMAN	coiled-coil domain containing 71	434										endometrium(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)	10				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00217)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		ATCCGAGGACCGCCTATCTAC	0.582																																						ENST00000321895.6																			0				endometrium(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)	10						c.(1300-1302)cGg>cAg		coiled-coil domain containing 71							74	70	71					3																	49200341		2203	4300	6503	SO:0001583	missense	64925							g.chr3:49200341C>T	AK022862	CCDS2790.1	3p21.31	2014-02-12			ENSG00000177352	ENSG00000177352			25760	protein-coding gene	gene with protein product						12477932	Standard	NM_022903		Approved	FLJ12800	uc003cwg.4	Q8IV32	OTTHUMG00000156815	ENST00000321895.6:c.1301G>A	3.37:g.49200341C>T	ENSP00000319006:p.Arg434Gln						p.R434Q	NM_022903.3	NP_075054.3	Q8IV32	CCD71_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00217)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	2	1407	-			434					Q6IPE2|Q9H8H4|Q9H9F1	Missense_Mutation	SNP	ENST00000321895.6	37	c.1301G>A	CCDS2790.1	.	.	.	.	.	.	.	.	.	.	C	10.52	1.372149	0.24857	.	.	ENSG00000177352	ENST00000321895	T	0.30448	1.53	5.9	-5.68	0.02436	.	2.218800	0.03232	N	0.179176	T	0.19967	0.0480	L	0.40543	1.245	0.09310	N	1	B	0.13594	0.008	B	0.06405	0.002	T	0.12344	-1.0551	10	0.34782	T	0.22	-32.5149	1.9392	0.03343	0.172:0.1475:0.1955:0.485	.	434	Q8IV32	CCD71_HUMAN	Q	434	ENSP00000319006:R434Q	ENSP00000319006:R434Q	R	-	2	0	CCDC71	49175345	0.000000	0.05858	0.001000	0.08648	0.649000	0.38597	-0.708000	0.05035	-1.101000	0.03027	-0.251000	0.11542	CGG		0.582	CCDC71-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345980.1	NM_022903		7	41	0	0	0	1	0	7	41					T	49200341	C	T	49200341	3	4	416	1	0	0	0	0	1	0	0	0	2844	652	23	2	106	2	CCDC71	3	49200341	Missense_Mutation	SNP	C	TCGA-VP-A87D-01A-11D-A34U-08		49200341	148822089	15	20159											
SENP7	57337	broad.mit.edu	37	chr3	101086791	101086800	+	Frame_Shift_Del	DEL	TTTAACATCC	TTTAACATCC	-																															tccacttttgaatcagaataTttaacatccttgtttctgct																										TCGA-VP-A87D-01A-11D-A34U-08	TCGA-VP-A87D-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a582e00-aad2-4360-868a-9ab8fa301eaa	4ca66d58-c6b9-4c71-b209-aa0a52690c09	g.chr3:101086791_101086800delTTTAACATCC	ENST00000394095.2	-	8	905_914	c.852_861delGGATGTTAAA	c.(850-861)aaggatgttaaafs	p.KDVK284fs	SENP7_ENST00000394091.1_Frame_Shift_Del_p.KDVK120fs|SENP7_ENST00000348610.3_Frame_Shift_Del_p.KDVK251fs|SENP7_ENST00000394094.2_Frame_Shift_Del_p.KDVK219fs|SENP7_ENST00000358203.3_Frame_Shift_Del_p.KDVK120fs|SENP7_ENST00000314261.7_Frame_Shift_Del_p.KDVK218fs	NM_001282802.1|NM_020654.3	NP_001269731.1|NP_065705.3	Q9BQF6	SENP7_HUMAN	SUMO1/sentrin specific peptidase 7	284						intracellular (GO:0005622)|nucleus (GO:0005634)	cysteine-type peptidase activity (GO:0008234)			breast(2)|endometrium(1)|kidney(1)|large_intestine(16)|lung(15)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						AATCAGAATATTTAACATCCTTGTTTCTGC	0.333																																						ENST00000394095.2																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(16)|lung(15)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						c.(850-861)aafs		SUMO1/sentrin specific peptidase 7																																				SO:0001589	frameshift_variant	57337				proteolysis	nucleus	cysteine-type peptidase activity	g.chr3:101086791_101086800delTTTAACATCC		CCDS2941.2, CCDS43121.1, CCDS63704.1, CCDS63705.1, CCDS63706.1	3q12	2008-02-05	2005-08-17		ENSG00000138468	ENSG00000138468			30402	protein-coding gene	gene with protein product		612846	"SUMO1/sentrin specific protease 7"			11214970, 11230166	Standard	NM_001282802		Approved		uc003dut.3	Q9BQF6	OTTHUMG00000149927	ENST00000394095.2:c.852_861delGGATGTTAAA	3.37:g.101086791_101086800delTTTAACATCC	ENSP00000377655:p.Lys284fs					SENP7_ENST00000358203.3_Frame_Shift_Del_p.KDVK120fs|SENP7_ENST00000314261.7_Frame_Shift_Del_p.KDVK218fs|SENP7_ENST00000394091.1_Frame_Shift_Del_p.KDVK120fs|SENP7_ENST00000394094.2_Frame_Shift_Del_p.KDVK219fs|SENP7_ENST00000348610.3_Frame_Shift_Del_p.KDVK251fs	p.KDVK284fs	NM_020654.3	NP_065705.3	Q9BQF6	SENP7_HUMAN			8	905_914	-			284					A1L3A5|A8MW39|B7WNW8|Q7Z3F4|Q96PS5|Q9C0F6|Q9HBT5	Frame_Shift_Del	DEL	ENST00000394095.2	37	c.852_861delGGATGTTAAA	CCDS2941.2																																																																																				0.333	SENP7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313957.2	NM_020654		10	100						10	100	---	---	---	---	-	101086800	TTTAACATCC	-	101086791	7	5	416	1	0	1	0	1	0	0	0	0	14051	1490	52	0	2359	0	SENP7	3	101086791	Frame_Shift_Del	DEL	TTTAACATCC	TCGA-VP-A87D-01A-11D-A34U-08	51886450	101086791	96935639	16	20160											
MYLK	4638	broad.mit.edu	37	chr3	123452701	123452701	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	caggctgcctggtggggaagGtggctggacggggaggagct	6	6	22	7	1	0	0	0	0	0	0	0	4	0	4	1	10	2	3	1	10	1	0			TCGA-VP-A87D-01A-11D-A34U-08	TCGA-VP-A87D-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a582e00-aad2-4360-868a-9ab8fa301eaa	4ca66d58-c6b9-4c71-b209-aa0a52690c09	g.chr3:123452701G>A	ENST00000475616.1	-	7	1141	c.1142C>T	c.(1141-1143)aCc>aTc	p.T381I	MYLK_ENST00000359169.1_Missense_Mutation_p.T381I|MYLK_ENST00000360304.3_Missense_Mutation_p.T381I|MYLK_ENST00000346322.5_Missense_Mutation_p.T381I|MYLK_ENST00000360772.3_Missense_Mutation_p.T381I			Q15746	MYLK_HUMAN	myosin light chain kinase	381					actin filament organization (GO:0007015)|aorta smooth muscle tissue morphogenesis (GO:0060414)|bleb assembly (GO:0032060)|cellular hypotonic response (GO:0071476)|muscle contraction (GO:0006936)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cell migration (GO:0030335)|positive regulation of wound healing (GO:0090303)|protein phosphorylation (GO:0006468)|smooth muscle contraction (GO:0006939)|tonic smooth muscle contraction (GO:0014820)	cell-cell junction (GO:0005911)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|metal ion binding (GO:0046872)|myosin light chain kinase activity (GO:0004687)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		GGTGGGGAAGGTGGCTGGACG	0.622																																						ENST00000360772.3																			0				NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113						c.(1141-1143)aCc>aTc		myosin light chain kinase							73	76	75					3																	123452701		2203	4300	6503	SO:0001583	missense	4638				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity	g.chr3:123452701G>A	X85337	CCDS3023.1, CCDS43141.1, CCDS46896.1, CCDS46897.1, CCDS58849.1	3q21	2013-02-11	2008-01-23		ENSG00000065534	ENSG00000065534	2.7.11.18	"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	7590	protein-coding gene	gene with protein product	"smooth muscle myosin light chain kinase"	600922	"myosin, light polypeptide kinase"			8575746	Standard	NM_053026		Approved	MLCK, smMLCK, MYLK1, MLCK1	uc003ego.3	Q15746	OTTHUMG00000141304	ENST00000475616.1:c.1142C>T	3.37:g.123452701G>A	ENSP00000418335:p.Thr381Ile					MYLK_ENST00000346322.5_Missense_Mutation_p.T381I|MYLK_ENST00000475616.1_Missense_Mutation_p.T381I|MYLK_ENST00000360304.3_Missense_Mutation_p.T381I|MYLK_ENST00000359169.1_Missense_Mutation_p.T381I	p.T381I			Q15746	MYLK_HUMAN		GBM - Glioblastoma multiforme(114;0.0736)	11	1520	-		Lung NSC(201;0.0496)	381					B4DUE3|D3DN97|O95796|O95797|O95798|O95799|Q14844|Q16794|Q17S15|Q3ZCP9|Q5MY99|Q5MYA0|Q6P2N0|Q7Z4J0|Q9C0L5|Q9UBG5|Q9UBY6|Q9UIT9	Missense_Mutation	SNP	ENST00000475616.1	37	c.1142C>T	CCDS46896.1	.	.	.	.	.	.	.	.	.	.	G	16.94	3.260608	0.59431	.	.	ENSG00000065534	ENST00000360772;ENST00000360304;ENST00000359169;ENST00000346322;ENST00000475616	T;T;T;T;T	0.68025	-0.3;-0.23;-0.3;-0.29;-0.23	5.43	3.54	0.40534	.	.	.	.	.	T	0.67942	0.2947	L	0.32530	0.975	0.18873	N	0.999983	D;B;D;B;P	0.67145	0.996;0.275;0.996;0.13;0.722	D;B;D;B;B	0.63703	0.917;0.075;0.917;0.075;0.231	T	0.55579	-0.8119	9	0.22109	T	0.4	.	10.1571	0.42829	0.0:0.1473:0.6999:0.1528	.	381;381;381;381;381	Q15746-6;Q15746-4;Q15746-3;Q15746-2;Q15746	.;.;.;.;MYLK_HUMAN	I	381	ENSP00000354004:T381I;ENSP00000353452:T381I;ENSP00000352088:T381I;ENSP00000320622:T381I;ENSP00000418335:T381I	ENSP00000320622:T381I	T	-	2	0	MYLK	124935391	0.002000	0.14202	0.010000	0.14722	0.038000	0.13279	1.249000	0.32839	1.503000	0.48686	0.655000	0.94253	ACC		0.622	MYLK-004	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356464.1	NM_053025		5	74	0	0	0	1	0	5	74					A	123452701	G	A	123452701	3	1	416	1	0	0	0	0	1	0	0	0	10056	1261	44	3	4702	3	MYLK	3	123452701	Missense_Mutation	SNP	G	TCGA-VP-A87D-01A-11D-A34U-08	22365910	123452701	74569729	17	20161											
EPHB1	2047	broad.mit.edu	37	chr3	134885817	134885817	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agcaaagaggctgtgtacagCgataagctccagcattacag	14	7	11	9	1	0	1	0	0	0	1	1	2	1	1	1	1	6	5	1	1	4	3	rs369483622		TCGA-VP-A87D-01A-11D-A34U-08	TCGA-VP-A87D-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a582e00-aad2-4360-868a-9ab8fa301eaa	4ca66d58-c6b9-4c71-b209-aa0a52690c09	g.chr3:134885817C>T	ENST00000398015.3	+	9	2098	c.1728C>T	c.(1726-1728)agC>agT	p.S576S	EPHB1_ENST00000493838.1_Silent_p.S137S	NM_004441.4	NP_004432.1	P54762	EPHB1_HUMAN	EPH receptor B1	576					angiogenesis (GO:0001525)|axon guidance (GO:0007411)|camera-type eye morphogenesis (GO:0048593)|cell chemotaxis (GO:0060326)|cell-substrate adhesion (GO:0031589)|central nervous system projection neuron axonogenesis (GO:0021952)|dendritic spine development (GO:0060996)|dendritic spine morphogenesis (GO:0060997)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|ephrin receptor signaling pathway (GO:0048013)|establishment of cell polarity (GO:0030010)|neural precursor cell proliferation (GO:0061351)|neurogenesis (GO:0022008)|optic nerve morphogenesis (GO:0021631)|positive regulation of synapse assembly (GO:0051965)|protein autophosphorylation (GO:0046777)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of JNK cascade (GO:0046328)|retinal ganglion cell axon guidance (GO:0031290)	axon (GO:0030424)|early endosome membrane (GO:0031901)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|transmembrane-ephrin receptor activity (GO:0005005)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						CTGTGTACAGCGATAAGCTCC	0.552																																						ENST00000398015.3																			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						c.(1726-1728)agC>agT		EPH receptor B1		C		0,3834		0,0,1917	144	151	149		1728	-2.5	1	3		149	2,8272		0,2,4135	no	coding-synonymous	EPHB1	NM_004441.4		0,2,6052	TT,TC,CC		0.0242,0.0,0.0165		576/985	134885817	2,12106	1917	4137	6054	SO:0001819	synonymous_variant	2047					integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding	g.chr3:134885817C>T	L40636	CCDS46921.1	3q21-q23	2013-02-11	2004-10-28			ENSG00000154928		"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3392	protein-coding gene	gene with protein product		600600	"EphB1"	EPHT2		8666391	Standard	NM_004441		Approved	Hek6	uc003eqt.3	P54762		ENST00000398015.3:c.1728C>T	3.37:g.134885817C>T						EPHB1_ENST00000493838.1_Silent_p.S137S	p.S576S	NM_004441.4	NP_004432.1	P54762	EPHB1_HUMAN			9	2098	+			576					A8K593|B3KTB2|B5A969|O43569|O95142|O95143|Q0VG87	Silent	SNP	ENST00000398015.3	37	c.1728C>T	CCDS46921.1																																																																																				0.552	EPHB1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357671.1	NM_004441		7	178	0	0	0	1	0	7	178					T	134885817	C	T	134885817	2	4	416	1	0	0	0	0	0	0	0	1	5174	767	27	1		1	EPHB1	3	134885817	Silent	SNP	C	TCGA-VP-A87D-01A-11D-A34U-08	11433116	134885817	63136613	18	20162											
ETV5	2119	broad.mit.edu	37	chr3	185769859	185769859	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	catagtaatagcggagagagCggctcagcttgtcatagttc	11	10	12	8	2	2	1	2	0	0	1	3	3	2	2	0	2	3	4	0	2	4	6			TCGA-VP-A87D-01A-11D-A34U-08	TCGA-VP-A87D-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a582e00-aad2-4360-868a-9ab8fa301eaa	4ca66d58-c6b9-4c71-b209-aa0a52690c09	g.chr3:185769859C>T	ENST00000306376.5	-	12	1517	c.1271G>A	c.(1270-1272)cGc>cAc	p.R424H	ETV5_ENST00000434744.1_Missense_Mutation_p.R424H|ETV5_ENST00000480706.1_5'UTR|ETV5_ENST00000537818.1_Missense_Mutation_p.R466H	NM_004454.2	NP_004445.1	P41161	ETV5_HUMAN	ets variant 5	424					cell differentiation (GO:0030154)|cellular response to oxidative stress (GO:0034599)|locomotory behavior (GO:0007626)|male germ-line stem cell asymmetric division (GO:0048133)|neuromuscular synaptic transmission (GO:0007274)|positive regulation of glial cell proliferation (GO:0060252)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of branching involved in mammary gland duct morphogenesis (GO:0060762)|regulation of synapse organization (GO:0050807)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|skeletal muscle acetylcholine-gated channel clustering (GO:0071340)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|cervix(1)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	28	all_cancers(143;4.06e-12)|Ovarian(172;0.0386)|Breast(254;0.247)		OV - Ovarian serous cystadenocarcinoma(80;1.62e-24)			GCGGAGAGAGCGGCTCAGCTT	0.502			T	"TMPRSS2, SCL45A3"	Prostate																																	ENST00000306376.5				Dom	yes		3	3q28	2119	T	ets variant gene 5			E	"TMPRSS2, SCL45A3"		Prostate		0				breast(2)|cervix(1)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	28						c.(1270-1272)cGc>cAc		ets variant 5							151	144	146					3																	185769859		2203	4300	6503	SO:0001583	missense	2119				cellular response to oxidative stress	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	g.chr3:185769859C>T	BC007333	CCDS33906.1	3q28	2008-09-12	2008-09-12		ENSG00000244405	ENSG00000244405			3494	protein-coding gene	gene with protein product	"ets-related molecule"	601600	"ets variant gene 5 (ets-related molecule)"			8152800	Standard	NM_004454		Approved	ERM	uc003fpz.3	P41161	OTTHUMG00000156639	ENST00000306376.5:c.1271G>A	3.37:g.185769859C>T	ENSP00000306894:p.Arg424His					ETV5_ENST00000537818.1_Missense_Mutation_p.R466H|ETV5_ENST00000480706.1_5'UTR|ETV5_ENST00000434744.1_Missense_Mutation_p.R424H	p.R424H	NM_004454.2	NP_004445.1	P41161	ETV5_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1.62e-24)		12	1517	-	all_cancers(143;4.06e-12)|Ovarian(172;0.0386)|Breast(254;0.247)		424					A6NH46|B7Z7D7|Q6IBN5	Missense_Mutation	SNP	ENST00000306376.5	37	c.1271G>A	CCDS33906.1	.	.	.	.	.	.	.	.	.	.	C	31	5.099068	0.94197	.	.	ENSG00000244405	ENST00000306376;ENST00000434744;ENST00000537818	T;T;T	0.70516	-0.49;-0.49;-0.49	5.76	5.76	0.90799	Winged helix-turn-helix transcription repressor DNA-binding (1);Ets (5);	0.000000	0.85682	D	0.000000	D	0.85771	0.5774	M	0.92412	3.305	0.58432	D	0.999997	D;P	0.64830	0.994;0.952	P;P	0.55785	0.784;0.643	D	0.88987	0.3412	10	0.87932	D	0	.	18.7291	0.91728	0.0:1.0:0.0:0.0	.	424;466	P41161;B7Z7D7	ETV5_HUMAN;.	H	424;424;466	ENSP00000306894:R424H;ENSP00000413755:R424H;ENSP00000441737:R466H	ENSP00000306894:R424H	R	-	2	0	ETV5	187252553	1.000000	0.71417	0.990000	0.47175	0.990000	0.78478	7.818000	0.86416	2.706000	0.92434	0.591000	0.81541	CGC		0.502	ETV5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344947.1	NM_004454		13	111	0	0	0	1	0	13	111					T	185769859	C	T	185769859	3	4	416	1	0	0	0	0	1	0	0	0	5282	768	27	1	269	1	ETV5	3	185769859	Missense_Mutation	SNP	C	TCGA-VP-A87D-01A-11D-A34U-08	50884042	185769859	12252571	19	20163											
PPEF2	5470	broad.mit.edu	37	chr4	76811139	76811139	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgaatgcttctaccagggCagttgcatggtcaggcagga	9	10	13	9	0	3	1	1	1	2	0	3	2	3	2	1	4	3	5	1	4	2	3			TCGA-VP-A87D-01A-11D-A34U-08	TCGA-VP-A87D-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a582e00-aad2-4360-868a-9ab8fa301eaa	4ca66d58-c6b9-4c71-b209-aa0a52690c09	g.chr4:76811139C>A	ENST00000286719.7	-	5	744	c.388G>T	c.(388-390)Gcc>Tcc	p.A130S	PPEF2_ENST00000510607.1_5'Flank	NM_006239.2	NP_006230.2	O14830	PPE2_HUMAN	protein phosphatase, EF-hand calcium binding domain 2	130	Catalytic.				detection of stimulus involved in sensory perception (GO:0050906)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|protein dephosphorylation (GO:0006470)|regulation of JUN kinase activity (GO:0043506)|regulation of MAP kinase activity (GO:0043405)|visual perception (GO:0007601)	cilium (GO:0005929)|cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|Hsp70 protein binding (GO:0030544)|Hsp90 protein binding (GO:0051879)|iron ion binding (GO:0005506)|manganese ion binding (GO:0030145)|mitogen-activated protein kinase kinase kinase binding (GO:0031435)|protein serine/threonine phosphatase activity (GO:0004722)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	50			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			TCTACCAGGGCAGTTGCATGG	0.527																																					NSCLC(105;1359 1603 15961 44567 47947)	ENST00000286719.7																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	50						c.(388-390)Gcc>Tcc		protein phosphatase, EF-hand calcium binding domain 2							217	193	202					4																	76811139		2203	4300	6503	SO:0001583	missense	5470				detection of stimulus involved in sensory perception|negative regulation of MAPKKK cascade|negative regulation of peptidyl-threonine phosphorylation|protein dephosphorylation|visual perception	cytoplasm|photoreceptor inner segment|photoreceptor outer segment	calcium ion binding|Hsp70 protein binding|Hsp90 protein binding|iron ion binding|manganese ion binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine phosphatase activity	g.chr4:76811139C>A	AF023456	CCDS34013.1	4q21.1	2013-01-10			ENSG00000156194	ENSG00000156194		"Serine/threonine phosphatases / Protein phosphatase, catalytic subunits", "EF-hand domain containing"	9244	protein-coding gene	gene with protein product	"protein phosphatase 7, catalytic subunit, beta isozyme"	602256				9326663, 12051765	Standard	NM_006239		Approved	PPP7CB	uc003hix.3	O14830	OTTHUMG00000160915	ENST00000286719.7:c.388G>T	4.37:g.76811139C>A	ENSP00000286719:p.Ala130Ser						p.A130S	NM_006239.2	NP_006230.2	O14830	PPE2_HUMAN	Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)		5	744	-			130			Catalytic.		O14831	Missense_Mutation	SNP	ENST00000286719.7	37	c.388G>T	CCDS34013.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.115689	0.77323	.	.	ENSG00000156194	ENST00000286719;ENST00000337500	T	0.42513	0.97	4.8	4.8	0.61643	Serine/threonine phosphatase, PPP5 (1);	0.269740	0.37809	N	0.001922	T	0.61739	0.2371	M	0.75447	2.3	0.50313	D	0.999869	D;D	0.89917	0.981;1.0	P;D	0.87578	0.813;0.998	T	0.58934	-0.7548	10	0.15499	T	0.54	-3.4223	15.3613	0.74478	0.0:1.0:0.0:0.0	.	130;130	O14830-2;O14830	.;PPE2_HUMAN	S	130	ENSP00000286719:A130S	ENSP00000286719:A130S	A	-	1	0	PPEF2	77030163	1.000000	0.71417	1.000000	0.80357	0.664000	0.39144	4.259000	0.58828	2.227000	0.72691	0.313000	0.20887	GCC		0.527	PPEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362929.1	NM_006239		7	120	1	0	8.12818e-05	1	8.91842e-05	7	120					A	76811139	C	A	76811139	3	1	416	1	0	0	0	0	1	0	0	0	12308	710	25	5	1925	5	PPEF2	4	76811139	Missense_Mutation	SNP	C	TCGA-VP-A87D-01A-11D-A34U-08		76811139	114343137	20	20164											
FAT4	79633	broad.mit.edu	37	chr4	126412664	126412664	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcctcgaaggtaccacggtcGcagggccgagggaggacctg	8	4	17	12	4	0	0	0	0	0	0	2	4	0	2	4	5	1	2	4	5	2	1	rs531333503		TCGA-VP-A87D-01A-11D-A34U-08	TCGA-VP-A87D-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a582e00-aad2-4360-868a-9ab8fa301eaa	4ca66d58-c6b9-4c71-b209-aa0a52690c09	g.chr4:126412664G>A	ENST00000394329.3	+	17	14700	c.14687G>A	c.(14686-14688)cGc>cAc	p.R4896H	FAT4_ENST00000335110.5_Missense_Mutation_p.R3137H	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	4896					branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						TACCACGGTCGCAGGGCCGAG	0.527													G|||	1	0.000199681	0	0.0014	5008	,	,		17314	0		0	False		,,,				2504	0					ENST00000394329.3																			0				NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						c.(14686-14688)cGc>cAc		FAT atypical cadherin 4							57	56	56					4																	126412664		2203	4300	6503	SO:0001583	missense	79633				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:126412664G>A	AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"Cadherins / Cadherin-related"	23109	protein-coding gene	gene with protein product	"cadherin-related family member 11"	612411	"FAT tumor suppressor homolog 4 (Drosophila)"			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.14687G>A	4.37:g.126412664G>A	ENSP00000377862:p.Arg4896His					FAT4_ENST00000335110.5_Missense_Mutation_p.R3137H	p.R4896H	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN			17	14700	+			4896					A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Missense_Mutation	SNP	ENST00000394329.3	37	c.14687G>A	CCDS3732.3	.	.	.	.	.	.	.	.	.	.	G	13.46	2.242959	0.39697	.	.	ENSG00000196159	ENST00000394329;ENST00000335110	T;T	0.76578	-0.82;-1.03	5.19	5.19	0.71726	.	0.000000	0.34932	U	0.003578	T	0.71745	0.3376	L	0.41236	1.265	0.58432	D	0.999996	P;P;P	0.44195	0.828;0.736;0.828	B;B;B	0.40009	0.316;0.099;0.201	T	0.72571	-0.4253	10	0.35671	T	0.21	.	17.7328	0.88383	0.0:0.0:1.0:0.0	.	3137;4896;4895	Q6V0I7-2;Q6V0I7;Q6V0I7-3	.;FAT4_HUMAN;.	H	4896;3137	ENSP00000377862:R4896H;ENSP00000335169:R3137H	ENSP00000335169:R3137H	R	+	2	0	FAT4	126632114	1.000000	0.71417	1.000000	0.80357	0.623000	0.37688	7.712000	0.84684	2.425000	0.82216	0.491000	0.48974	CGC		0.527	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582		5	47	0	0	0	1	0	5	47					A	126412664	G	A	126412664	3	1	416	1	0	0	0	0	1	0	0	0	5692	1087	38	1	14753	1	FAT4	4	126412664	Missense_Mutation	SNP	G	TCGA-VP-A87D-01A-11D-A34U-08	49601525	126412664	64741612	21	20165											
PCDHA12	56137	broad.mit.edu	37	chr5	140256502	140256502	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacggtgtcggcatgggacgCggacgcgcagaagaacgcgc	9	3	17	12	8	0	2	0	0	0	2	1	4	0	4	0	4	1	2	0	4	2	0			TCGA-VP-A87D-01A-11D-A34U-08	TCGA-VP-A87D-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a582e00-aad2-4360-868a-9ab8fa301eaa	4ca66d58-c6b9-4c71-b209-aa0a52690c09	g.chr5:140256502C>T	ENST00000398631.2	+	1	1445	c.1445C>T	c.(1444-1446)gCg>gTg	p.A482V	PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA6_ENST00000529310.1_Intron	NM_018903.2|NM_031864.2	NP_061726.1|NP_114070.1	Q9UN75	PCDAC_HUMAN	protocadherin alpha 12	482	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(4)|breast(2)|cervix(1)|endometrium(19)|kidney(8)|large_intestine(8)|liver(2)|lung(25)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCATGGGACGCGGACGCGCAG	0.662																																					Pancreas(113;759 1672 13322 24104 50104)	ENST00000398631.2																			0				NS(4)|breast(2)|cervix(1)|endometrium(19)|kidney(8)|large_intestine(8)|liver(2)|lung(25)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	78						c.(1444-1446)gCg>gTg									82	84	83					5																	140256502		2203	4300	6503	SO:0001583	missense	0							g.chr5:140256502C>T	AF152477	CCDS47285.1, CCDS75327.1	5q31	2010-11-26			ENSG00000251664	ENSG00000251664		"Cadherins / Protocadherins : Clustered"	8666	other	complex locus constituent	"KIAA0345-like 2"	606318				10380929	Standard	NM_018903		Approved	PCDH-ALPHA12	uc003lic.2	Q9UN75	OTTHUMG00000163366	ENST00000398631.2:c.1445C>T	5.37:g.140256502C>T	ENSP00000381628:p.Ala482Val					PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA6_ENST00000527624.1_Intron	p.A482V	NM_018903.2|NM_031864.1	NP_061726.1|NP_114070.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1445	+								O75278|Q2M1N8	Missense_Mutation	SNP	ENST00000398631.2	37	c.1445C>T	CCDS47285.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.231262	0.79688	.	.	ENSG00000251664	ENST00000398631	T	0.01228	5.14	5.22	5.22	0.72569	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.03011	0.0089	L	0.38649	1.16	0.33090	D	0.537793	P;P	0.38167	0.568;0.621	B;B	0.43478	0.133;0.421	T	0.37267	-0.9713	9	0.72032	D	0.01	.	18.8361	0.92164	0.0:1.0:0.0:0.0	.	482;482	Q9UN75-2;Q9UN75	.;PCDAC_HUMAN	V	482	ENSP00000381628:A482V	ENSP00000381628:A482V	A	+	2	0	PCDHA12	140236686	0.000000	0.05858	1.000000	0.80357	0.981000	0.71138	0.878000	0.28126	2.452000	0.82932	0.650000	0.86243	GCG		0.662	PCDHA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372882.2	NM_018903		5	98	0	0	0	1	0	5	98					T	140256502	C	T	140256502	3	4	416	1	0	0	0	0	1	0	0	0	11522	768	27	1	1447	1	PCDHA12	5	140256502	Missense_Mutation	SNP	C	TCGA-VP-A87D-01A-11D-A34U-08		140256502	40658758	22	20166											
HDAC3	8841	broad.mit.edu	37	chr5	141005788	141005788	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gggcaacatttcggacagtaTaaccaccaccacccagcacg	13	5	8	15	2	0	0	0	0	0	0	1	1	0	1	4	2	3	3	4	2	3	3			TCGA-VP-A87D-01A-11D-A34U-08	TCGA-VP-A87D-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a582e00-aad2-4360-868a-9ab8fa301eaa	4ca66d58-c6b9-4c71-b209-aa0a52690c09	g.chr5:141005788T>G	ENST00000305264.3	-	11	972	c.893A>C	c.(892-894)tAt>tCt	p.Y298S	HDAC3_ENST00000469207.1_5'Flank|AC008781.7_ENST00000422040.2_RNA	NM_003883.3	NP_003874.2	O15379	HDAC3_HUMAN	histone deacetylase 3	298	Histone deacetylase.				cellular lipid metabolic process (GO:0044255)|chromatin modification (GO:0016568)|circadian regulation of gene expression (GO:0032922)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell cycle (GO:0045786)|negative regulation of JNK cascade (GO:0046329)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|protein deacetylation (GO:0006476)|regulation of mitotic cell cycle (GO:0007346)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|spindle assembly (GO:0051225)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|histone deacetylase complex (GO:0000118)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|cyclin binding (GO:0030332)|enzyme binding (GO:0019899)|histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|protein deacetylase activity (GO:0033558)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			endometrium(1)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	13			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Vorinostat(DB02546)	TCGGACAGTATAACCACCACC	0.512																																						ENST00000305264.3																			0				endometrium(1)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	13						c.(892-894)tAt>tCt		histone deacetylase 3	Vorinostat(DB02546)						155	118	131					5																	141005788		2203	4300	6503	SO:0001583	missense	8841				anti-apoptosis|cellular lipid metabolic process|negative regulation of cell cycle|negative regulation of JNK cascade|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|spindle assembly|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|spindle microtubule|transcriptional repressor complex	histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|transcription corepressor activity|transcription factor binding	g.chr5:141005788T>G	AF059650	CCDS4264.1	5q31.1-q31.2	2008-07-18			ENSG00000171720	ENSG00000171720	3.5.1.98		4854	protein-coding gene	gene with protein product		605166				9501169, 9464271	Standard	NM_003883		Approved	RPD3, HD3, RPD3-2	uc003llf.2	O15379	OTTHUMG00000129629	ENST00000305264.3:c.893A>C	5.37:g.141005788T>G	ENSP00000302967:p.Tyr298Ser					AC008781.7_ENST00000422040.1_RNA	p.Y298S	NM_003883.3	NP_003874.2	O15379	HDAC3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		11	972	-			298			Histone deacetylase.		D3DQE1|O43268|Q9UEI5|Q9UEV0	Missense_Mutation	SNP	ENST00000305264.3	37	c.893A>C	CCDS4264.1	.	.	.	.	.	.	.	.	.	.	T	28.7	4.945874	0.92593	.	.	ENSG00000171720	ENST00000305264;ENST00000523353	D;D	0.91124	-2.79;-2.79	5.65	5.65	0.86999	Histone deacetylase domain (2);	0.000000	0.85682	D	0.000000	D	0.97244	0.9099	H	0.98218	4.175	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98660	1.0683	10	0.87932	D	0	-19.8183	15.6986	0.77521	0.0:0.0:0.0:1.0	.	298	O15379	HDAC3_HUMAN	S	298;107	ENSP00000302967:Y298S;ENSP00000430667:Y107S	ENSP00000302967:Y298S	Y	-	2	0	HDAC3	140985972	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.868000	0.87116	2.371000	0.80710	0.533000	0.62120	TAT		0.512	HDAC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251824.2	NM_003883		15	24	0	0	0	1	0	15	24					G	141005788	T	G	141005788	3	3	416	1	0	0	0	0	1	0	0	0	7008	1406	49	5	413	5	HDAC3	5	141005788	Missense_Mutation	SNP	T	TCGA-VP-A87D-01A-11D-A34U-08	749286	141005788	39909472	23	20167											
KIF13A	63971	broad.mit.edu	37	chr6	17779890	17779890	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atatatttttcagggatattCtcctcttcaaactctgcgtg	9	17	6	9	1	5	0	2	0	3	0	6	1	5	1	1	1	2	0	1	1	4	7			TCGA-VP-A87D-01A-11D-A34U-08	TCGA-VP-A87D-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a582e00-aad2-4360-868a-9ab8fa301eaa	4ca66d58-c6b9-4c71-b209-aa0a52690c09	g.chr6:17779890C>T	ENST00000259711.6	-	32	3977	c.3872G>A	c.(3871-3873)aGa>aAa	p.R1291K	KIF13A_ENST00000378814.5_Missense_Mutation_p.R1278K|KIF13A_ENST00000378843.2_Missense_Mutation_p.R1278K|KIF13A_ENST00000378816.5_Missense_Mutation_p.R1291K|KIF13A_ENST00000378826.2_Missense_Mutation_p.R1291K	NM_022113.5	NP_071396.4	Q9H1H9	KI13A_HUMAN	kinesin family member 13A	1291					ATP catabolic process (GO:0006200)|cargo loading into vesicle (GO:0035459)|cytokinesis (GO:0000910)|endosome to lysosome transport (GO:0008333)|Golgi to plasma membrane protein transport (GO:0043001)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|plus-end-directed vesicle transport along microtubule (GO:0072383)	centrosome (GO:0005813)|endosome membrane (GO:0010008)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|midbody (GO:0030496)|trans-Golgi network membrane (GO:0032588)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	64	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	all cancers(50;0.0865)|Epithelial(50;0.0974)			CAGGGATATTCTCCTCTTCAA	0.299																																						ENST00000378814.5																			0				breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	64						c.(3832-3834)aGa>aAa		kinesin family member 13A							33	35	35					6																	17779890		1808	4067	5875	SO:0001583	missense	63971				cargo loading into vesicle|cell cycle|cytokinesis|endosome to lysosome transport|Golgi to plasma membrane protein transport|melanosome organization|plus-end-directed vesicle transport along microtubule	centrosome|endosome membrane|microtubule|midbody|trans-Golgi network membrane	ATP binding|microtubule motor activity|protein binding	g.chr6:17779890C>T	AJ291578	CCDS47380.1, CCDS47381.1, CCDS54967.1, CCDS54968.1, CCDS58998.1	6p23	2008-10-21			ENSG00000137177	ENSG00000137177		"Kinesins"	14566	protein-coding gene	gene with protein product		605433				11106728	Standard	NM_022113		Approved	bA500C11.2	uc003ncg.4	Q9H1H9	OTTHUMG00000014313	ENST00000259711.6:c.3872G>A	6.37:g.17779890C>T	ENSP00000259711:p.Arg1291Lys					KIF13A_ENST00000378816.5_Missense_Mutation_p.R1291K|KIF13A_ENST00000378843.2_Missense_Mutation_p.R1278K|KIF13A_ENST00000259711.6_Missense_Mutation_p.R1291K|KIF13A_ENST00000378826.2_Missense_Mutation_p.R1291K	p.R1278K	NM_001105568.2	NP_001099038.1	Q9H1H9	KI13A_HUMAN	all cancers(50;0.0865)|Epithelial(50;0.0974)		31	3832	-	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	1291					A0JP21|A0JP22|F2Z382|Q5THQ2|Q5THQ3|Q9H193|Q9H194|Q9H1H8	Missense_Mutation	SNP	ENST00000259711.6	37	c.3833G>A	CCDS47381.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.19|19.19	3.779601|3.779601	0.70107|0.70107	.|.	.|.	ENSG00000137177|ENSG00000137177	ENST00000358380|ENST00000378814;ENST00000502297;ENST00000259711;ENST00000378826;ENST00000378843;ENST00000378816	.|T;T;T;T;T;T	.|0.70869	.|-0.49;1.89;-0.52;-0.48;-0.49;-0.48	5.67|5.67	5.67|5.67	0.87782|0.87782	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.49253|0.49253	0.1546|0.1546	L|L	0.39514|0.39514	1.22|1.22	0.58432|0.58432	D|D	0.999992|0.999992	.|B;B;B;P	.|0.34412	.|0.144;0.28;0.089;0.453	.|B;B;B;B	.|0.36186	.|0.219;0.13;0.034;0.172	T|T	0.56019|0.56019	-0.8048|-0.8048	5|10	.|0.06891	.|T	.|0.86	.|.	19.7743|19.7743	0.96385|0.96385	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|1278;1291;1291;1278	.|Q9H1H9-4;Q9H1H9-2;Q9H1H9;Q9H1H9-3	.|.;.;KI13A_HUMAN;.	K|K	685|1278;295;1291;1291;1278;1291	.|ENSP00000368091:R1278K;ENSP00000425616:R295K;ENSP00000259711:R1291K;ENSP00000368103:R1291K;ENSP00000368120:R1278K;ENSP00000368093:R1291K	.|ENSP00000259711:R1291K	E|R	-|-	1|2	0|0	KIF13A|KIF13A	17887869|17887869	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.973000|0.973000	0.67179|0.67179	7.294000|7.294000	0.78760|0.78760	2.663000|2.663000	0.90544|0.90544	0.557000|0.557000	0.71058|0.71058	GAA|AGA		0.299	KIF13A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000039954.4			13	30	0	0	0	1	0	13	30					T	17779890	C	T	17779890	3	4	416	1	0	0	0	0	1	0	0	0	8274	913	32	3	1602	3	KIF13A	6	17779890	Missense_Mutation	SNP	C	TCGA-VP-A87D-01A-11D-A34U-08		17779890	153335177	24	20168											
HIST1H4A	8359	broad.mit.edu	37	chr6	26022184	26022184	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtggtctacgcgcttaagcGccagggacgcaccctttatg	7	9	12	13	5	1	0	0	0	1	0	1	1	1	1	2	2	2	2	2	2	3	4			TCGA-VP-A87D-01A-11D-A34U-08	TCGA-VP-A87D-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a582e00-aad2-4360-868a-9ab8fa301eaa	4ca66d58-c6b9-4c71-b209-aa0a52690c09	g.chr6:26022184G>T	ENST00000359907.3	+	1	278	c.278G>T	c.(277-279)cGc>cTc	p.R93L		NM_003538.3	NP_003529.1	P62805	H4_HUMAN	histone cluster 1, H4a	93					CENP-A containing nucleosome assembly (GO:0034080)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|histone H4-K20 demethylation (GO:0035574)|mitotic cell cycle (GO:0000278)|negative regulation of megakaryocyte differentiation (GO:0045653)|nucleosome assembly (GO:0006334)|telomere maintenance (GO:0000723)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|histone demethylase activity (H4-K20 specific) (GO:0035575)|poly(A) RNA binding (GO:0044822)			large_intestine(1)|skin(1)	2						GCGCTTAAGCGCCAGGGACGC	0.537																																						ENST00000359907.3																			0				large_intestine(1)|skin(1)	2						c.(277-279)cGc>cTc		histone cluster 1, H4a							92	80	85					6																	26022184		2203	4300	6503	SO:0001583	missense	8359				CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding	g.chr6:26022184G>T	X60481	CCDS4571.1	6p22.1	2011-01-27	2006-10-11	2003-03-07	ENSG00000196176	ENSG00000278637		"Histones / Replication-dependent"	4781	protein-coding gene	gene with protein product		602822	"H4 histone family, member A", "histone 1, H4a"	H4FA		9119399, 12408966	Standard	NM_003538		Approved		uc003nfq.3	P62805	OTTHUMG00000014419	ENST00000359907.3:c.278G>T	6.37:g.26022184G>T	ENSP00000352980:p.Arg93Leu						p.R93L	NM_003538.3	NP_003529.1	P62805	H4_HUMAN			1	278	+			93					A2VCL0|P02304|P02305|Q6DRA9|Q6FGB8|Q6NWP7	Missense_Mutation	SNP	ENST00000359907.3	37	c.278G>T	CCDS4571.1	.	.	.	.	.	.	.	.	.	.	g	21.7	4.185406	0.78677	.	.	ENSG00000196176	ENST00000359907	T	0.63255	-0.03	3.97	3.97	0.46021	.	.	.	.	.	T	0.63604	0.2525	.	.	.	0.43569	D	0.995891	.	.	.	.	.	.	T	0.64292	-0.6442	5	.	.	.	.	15.9333	0.79683	0.0:0.0:1.0:0.0	.	.	.	.	L	93	ENSP00000352980:R93L	.	R	+	2	0	HIST1H4A	26130163	1.000000	0.71417	1.000000	0.80357	0.266000	0.26442	7.661000	0.83786	2.134000	0.65973	0.655000	0.94253	CGC		0.537	HIST1H4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040081.1	NM_003538		5	71	1	0	0.217242	1	0.220027	5	71					T	26022184	G	T	26022184	3	4	416	1	0	0	0	0	1	0	0	0	7165	1087	38	5	280	5	HIST1H4A	6	26022184	Missense_Mutation	SNP	G	TCGA-VP-A87D-01A-11D-A34U-08	8242294	26022184	145092883	25	20169											
ZNF184	7738	broad.mit.edu	37	chr6	27420425	27420425	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	acattcatcacatttatatgGtttttctccagtatgaattc	11	18	4	8	0	3	1	2	1	1	0	5	1	3	1	1	1	0	2	1	1	4	8			TCGA-VP-A87D-01A-11D-A34U-08	TCGA-VP-A87D-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a582e00-aad2-4360-868a-9ab8fa301eaa	4ca66d58-c6b9-4c71-b209-aa0a52690c09	g.chr6:27420425G>T	ENST00000211936.6	-	6	1197	c.913C>A	c.(913-915)Cca>Aca	p.P305T	ZNF184_ENST00000377419.1_Missense_Mutation_p.P305T	NM_007149.2	NP_009080.2	Q99676	ZN184_HUMAN	zinc finger protein 184	305					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(4)|kidney(9)|large_intestine(13)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	48						CATTTATATGGTTTTTCTCCA	0.388																																						ENST00000211936.6																			0				breast(1)|cervix(1)|endometrium(4)|kidney(9)|large_intestine(13)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	48						c.(913-915)Cca>Aca		zinc finger protein 184							58	60	59					6																	27420425		2203	4300	6503	SO:0001583	missense	7738				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:27420425G>T	U66561	CCDS4624.1	6p21.3	2013-01-08	2006-06-28		ENSG00000096654	ENSG00000096654		"Zinc fingers, C2H2-type", "-"	12975	protein-coding gene	gene with protein product		602277	"zinc finger protein 184 (Kruppel-like)"				Standard	NM_007149		Approved		uc003nji.3	Q99676	OTTHUMG00000014478	ENST00000211936.6:c.913C>A	6.37:g.27420425G>T	ENSP00000211936:p.Pro305Thr					ZNF184_ENST00000377419.1_Missense_Mutation_p.P305T	p.P305T	NM_007149.2	NP_009080.2	Q99676	ZN184_HUMAN			6	1197	-			305					B2R715|O60792|Q8TBA9	Missense_Mutation	SNP	ENST00000211936.6	37	c.913C>A	CCDS4624.1	.	.	.	.	.	.	.	.	.	.	G	16.34	3.094384	0.56075	.	.	ENSG00000096654	ENST00000211936;ENST00000377419;ENST00000341087	T;T	0.16897	2.31;2.31	4.99	4.99	0.66335	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.47093	D	0.000248	T	0.32823	0.0842	M	0.82323	2.585	0.41971	D	0.990757	D	0.89917	1.0	D	0.80764	0.994	T	0.13019	-1.0525	10	0.87932	D	0	.	9.2334	0.37450	0.0963:0.0:0.9037:0.0	.	305	Q99676	ZN184_HUMAN	T	305	ENSP00000211936:P305T;ENSP00000366636:P305T	ENSP00000211936:P305T	P	-	1	0	ZNF184	27528404	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.183000	0.77697	2.591000	0.87537	0.455000	0.32223	CCA		0.388	ZNF184-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040146.1	NM_007149		6	67	1	0	0.00116845	1	0.00123076	6	67					T	27420425	G	T	27420425	3	4	416	1	0	0	0	0	1	0	0	0	17748	1261	44	5	1346	5	ZNF184	6	27420425	Missense_Mutation	SNP	G	TCGA-VP-A87D-01A-11D-A34U-08	1398241	27420425	143694642	26	20170											
HIST1H2BO	8348	broad.mit.edu	37	chr6	27861251	27861251	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcctccgccatgcccgaccCggctaaatctgctcctgccc	5	8	7	21	3	1	0	0	0	1	0	4	1	4	0	7	1	3	2	7	1	2	1			TCGA-VP-A87D-01A-11D-A34U-08	TCGA-VP-A87D-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a582e00-aad2-4360-868a-9ab8fa301eaa	4ca66d58-c6b9-4c71-b209-aa0a52690c09	g.chr6:27861251C>A	ENST00000303806.4	+	1	49	c.11C>A	c.(10-12)cCg>cAg	p.P4Q	HIST1H3J_ENST00000479986.1_5'Flank|HIST1H3J_ENST00000359303.2_5'Flank|HIST1H2AM_ENST00000359611.2_5'Flank	NM_003527.4	NP_003518.2	P23527	H2B1O_HUMAN	histone cluster 1, H2bo	4					chromatin organization (GO:0006325)|nucleosome assembly (GO:0006334)	nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)										ATGCCCGACCCGGCTAAATCT	0.507																																						ENST00000303806.4																			0											c.(10-12)cCg>cAg		histone cluster 1, H2bo							46	50	49					6																	27861251		2203	4300	6503	SO:0001583	missense	8348				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr6:27861251C>A	X57138	CCDS4640.1	6p22.1	2011-01-27	2006-10-11	2003-02-21	ENSG00000196331			"Histones / Replication-dependent"	4758	protein-coding gene	gene with protein product		602808	"H2B histone family, member N", "histone 1, H2bo"	H2BFN		1768865, 12408966	Standard	NM_003527		Approved	H2B/n, H2B.2	uc003nkc.1	P23527	OTTHUMG00000014493	ENST00000303806.4:c.11C>A	6.37:g.27861251C>A	ENSP00000303408:p.Pro4Gln						p.P4Q	NM_003527.4	NP_003518.2	P23527	H2B1O_HUMAN			1	49	+			4					Q3KPI7|Q8TCV6	Missense_Mutation	SNP	ENST00000303806.4	37	c.11C>A	CCDS4640.1	.	.	.	.	.	.	.	.	.	.	C	15.56	2.870729	0.51695	.	.	ENSG00000196331	ENST00000303806	T	0.19532	2.14	3.7	3.7	0.42460	.	.	.	.	.	T	0.29321	0.0730	M	0.86502	2.82	0.29924	N	0.822476	D	0.64830	0.994	P	0.50378	0.639	T	0.09574	-1.0668	9	0.56958	D	0.05	.	15.2409	0.73468	0.0:1.0:0.0:0.0	.	4	P23527	H2B1O_HUMAN	Q	4	ENSP00000303408:P4Q	ENSP00000303408:P4Q	P	+	2	0	HIST1H2BO	27969230	0.950000	0.32346	0.022000	0.16811	0.029000	0.11900	3.539000	0.53604	2.356000	0.79943	0.561000	0.74099	CCG		0.507	HIST1H2BO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040161.1	NM_003527		4	58	1	0	0.014758	1	0.0151413	4	58					A	27861251	C	A	27861251	3	1	416	1	0	0	0	0	1	0	0	0	7154	652	23	5	13	5	HIST1H2BO	6	27861251	Missense_Mutation	SNP	C	TCGA-VP-A87D-01A-11D-A34U-08	440826	27861251	143253816	27	20171											
LAMA2	3908	broad.mit.edu	37	chr6	129371234	129371234	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaacagcagcaatccaaaccGtatgtattttagtgtgtagg	14	11	9	7	1	0	0	0	0	0	0	1	0	1	0	2	1	4	5	2	1	7	5	rs200288072		TCGA-VP-A87D-01A-11D-A34U-08	TCGA-VP-A87D-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a582e00-aad2-4360-868a-9ab8fa301eaa	4ca66d58-c6b9-4c71-b209-aa0a52690c09	g.chr6:129371234G>A	ENST00000421865.2	+	2	332		c.e2+1			NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2						axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|myelination in peripheral nervous system (GO:0022011)|positive regulation of synaptic transmission, cholinergic (GO:0032224)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|sarcolemma (GO:0042383)	structural molecule activity (GO:0005198)			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		AATCCAAACCGTATGTATTTT	0.443																																						ENST00000421865.2																			0				NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194						c.e2+1		laminin, alpha 2							135	114	121					6																	129371234		2203	4300	6503	SO:0001630	splice_region_variant	3908				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	g.chr6:129371234G>A	Z26653	CCDS5138.1	6q22-q23	2014-09-17	2008-08-01		ENSG00000196569	ENSG00000196569		"Laminins"	6482	protein-coding gene	gene with protein product	"merosin", "congenital muscular dystrophy"	156225		LAMM		2185464, 8294519	Standard	NM_000426		Approved		uc003qbn.3	P24043	OTTHUMG00000015545	ENST00000421865.2:c.283+1G>A	6.37:g.129371234G>A								NM_000426.3|NM_001079823.1	NP_000417.2|NP_001073291.1	P24043	LAMA2_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)	2	332	+								Q14736|Q5VUM2|Q93022	Splice_Site	SNP	ENST00000421865.2	37		CCDS5138.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.165753	0.78339	.	.	ENSG00000196569	ENST00000358023;ENST00000354729;ENST00000421865	.	.	.	5.31	5.31	0.75309	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.9655	0.92694	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	LAMA2	129412927	1.000000	0.71417	0.998000	0.56505	0.756000	0.42949	8.423000	0.90264	2.483000	0.83821	0.462000	0.41574	.		0.443	LAMA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042180.1		Intron	13	23	0	0	0	1	0	13	23					A	129371234	G	A	129371234	5	1	416	1	0	0	0	0	0	0	1	0	8606	1159	40	1	290	1	LAMA2	6	129371234	Splice_Site	SNP	G	TCGA-VP-A87D-01A-11D-A34U-08	101509983	129371234	41743833	28	20172											
UTRN	7402	broad.mit.edu	37	chr6	145157535	145157535	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gattatatctccccatcacaCgtctgaggattcagaactta	12	12	6	11	1	4	2	2	1	2	1	5	4	4	3	2	1	1	0	2	1	4	4			TCGA-VP-A87D-01A-11D-A34U-08	TCGA-VP-A87D-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a582e00-aad2-4360-868a-9ab8fa301eaa	4ca66d58-c6b9-4c71-b209-aa0a52690c09	g.chr6:145157535C>T	ENST00000367545.3	+	70	9923	c.9923C>T	c.(9922-9924)aCg>aTg	p.T3308M	UTRN_ENST00000367526.4_Missense_Mutation_p.T863M	NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	3308					aging (GO:0007568)|muscle cell differentiation (GO:0042692)|muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|neuron projection morphogenesis (GO:0048812)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of sodium ion transmembrane transporter activity (GO:2000649)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dystrophin-associated glycoprotein complex (GO:0016010)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane (GO:0016020)|membrane raft (GO:0045121)|myofibril (GO:0030016)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|protein kinase binding (GO:0019901)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		CCCCATCACACGTCTGAGGAT	0.502																																						ENST00000367545.3																			0				NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148						c.(9922-9924)aCg>aTg		utrophin							104	106	105					6																	145157535		2203	4300	6503	SO:0001583	missense	7402				muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding	g.chr6:145157535C>T	AK023675	CCDS34547.1	6q24	2008-02-05	2006-12-13		ENSG00000152818	ENSG00000152818			12635	protein-coding gene	gene with protein product		128240	"utrophin (homologous to dystrophin)"	DMDL		1426262	Standard	NM_007124		Approved	DRP, DRP1	uc003qkt.3	P46939	OTTHUMG00000015746	ENST00000367545.3:c.9923C>T	6.37:g.145157535C>T	ENSP00000356515:p.Thr3308Met					UTRN_ENST00000367526.4_Missense_Mutation_p.T863M	p.T3308M	NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)	70	9923	+		Ovarian(120;0.218)	3308					Q5SYY1|Q5SZ57|Q9UJ40	Missense_Mutation	SNP	ENST00000367545.3	37	c.9923C>T	CCDS34547.1	.	.	.	.	.	.	.	.	.	.	C	11.57	1.676677	0.29783	.	.	ENSG00000152818	ENST00000367545;ENST00000367526	T;T	0.60920	0.15;3.46	5.91	5.04	0.67666	.	0.114707	0.39341	N	0.001393	T	0.20047	0.0482	N	0.08118	0	0.26693	N	0.971315	P	0.46020	0.871	B	0.39503	0.301	T	0.10268	-1.0637	10	0.59425	D	0.04	.	9.4248	0.38572	0.1439:0.7848:0.0:0.0713	.	3308	P46939	UTRO_HUMAN	M	3308;863	ENSP00000356515:T3308M;ENSP00000356496:T863M	ENSP00000356496:T863M	T	+	2	0	UTRN	145199228	0.849000	0.29639	0.932000	0.37286	0.321000	0.28281	1.096000	0.30976	2.813000	0.96785	0.655000	0.94253	ACG		0.502	UTRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042551.1			13	153	0	0	0	1	0	13	153					T	145157535	C	T	145157535	3	4	416	1	0	0	0	0	1	0	0	0	17100	536	19	1	10201	1	UTRN	6	145157535	Missense_Mutation	SNP	C	TCGA-VP-A87D-01A-11D-A34U-08	15786301	145157535	25957532	29	20173											
TIAM2	26230	broad.mit.edu	37	chr6	155500568	155500568	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tatgacgtgcagctcacgaaGactgggagtgtgtgtgactt	9	11	14	7	2	1	3	1	2	0	1	1	5	1	4	0	1	2	2	0	1	2	2	rs199773084		TCGA-VP-A87D-01A-11D-A34U-08	TCGA-VP-A87D-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a582e00-aad2-4360-868a-9ab8fa301eaa	4ca66d58-c6b9-4c71-b209-aa0a52690c09	g.chr6:155500568G>A	ENST00000461783.3	+	14	3958	c.2685G>A	c.(2683-2685)aaG>aaA	p.K895K	TIAM2_ENST00000456144.1_Silent_p.K895K|TIAM2_ENST00000528391.2_Silent_p.K231K|TIAM2_ENST00000367174.2_Silent_p.K271K|TIAM2_ENST00000456877.2_Silent_p.K207K|TIAM2_ENST00000318981.5_Silent_p.K895K|TIAM2_ENST00000360366.4_Silent_p.K919K|TIAM2_ENST00000529824.2_Silent_p.K895K			Q8IVF5	TIAM2_HUMAN	T-cell lymphoma invasion and metastasis 2	895	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				apoptotic signaling pathway (GO:0097190)|cellular lipid metabolic process (GO:0044255)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	cell projection (GO:0042995)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)|receptor signaling protein activity (GO:0005057)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)		AGCTCACGAAGACTGGGAGTG	0.413																																						ENST00000461783.3																			0				breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65						c.(2683-2685)aaG>aaA		T-cell lymphoma invasion and metastasis 2							283	276	279					6																	155500568		2203	4300	6503	SO:0001819	synonymous_variant	26230				apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|filopodium|growth cone|lamellipodium	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity	g.chr6:155500568G>A		CCDS34558.1, CCDS34559.1	6q25	2013-01-10			ENSG00000146426	ENSG00000146426		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	11806	protein-coding gene	gene with protein product		604709				10512681	Standard	NM_012454		Approved	STEF	uc003qqe.3	Q8IVF5	OTTHUMG00000015880	ENST00000461783.3:c.2685G>A	6.37:g.155500568G>A						TIAM2_ENST00000456877.2_Silent_p.K207K|TIAM2_ENST00000456144.1_Silent_p.K895K|TIAM2_ENST00000529824.2_Silent_p.K895K|TIAM2_ENST00000318981.5_Silent_p.K895K|TIAM2_ENST00000528391.2_Silent_p.K231K|TIAM2_ENST00000360366.4_Silent_p.K919K|TIAM2_ENST00000367174.2_Silent_p.K271K	p.K895K			Q8IVF5	TIAM2_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)	14	3958	+		Ovarian(120;0.196)	895			PDZ.		B2RP56|C9JZV2|Q6NXN9|Q6ZUP9|Q9UFG6|Q9UKV9|Q9UKW0	Silent	SNP	ENST00000461783.3	37	c.2685G>A	CCDS34558.1																																																																																				0.413	TIAM2-005	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000387980.2	NM_012454		34	79	0	0	0	1	0	34	79					A	155500568	G	A	155500568	2	1	416	1	0	0	0	0	0	0	0	1	15888	933	33	3		3	TIAM2	6	155500568	Silent	SNP	G	TCGA-VP-A87D-01A-11D-A34U-08	10343033	155500568	15614499	30	20174											
ELN	2006	broad.mit.edu	37	chr7	73456962	73456962	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agggctcggcgccttccccgCagttacctttccgggggctc	3	9	13	16	4	0	0	0	0	0	0	4	0	2	0	5	4	1	4	5	4	1	3			TCGA-VP-A87D-01A-11D-A34U-08	TCGA-VP-A87D-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a582e00-aad2-4360-868a-9ab8fa301eaa	4ca66d58-c6b9-4c71-b209-aa0a52690c09	g.chr7:73456962C>A	ENST00000252034.7	+	6	650	c.251C>A	c.(250-252)gCa>gAa	p.A84E	ELN_ENST00000458204.1_Missense_Mutation_p.A74E|ELN_ENST00000357036.5_Missense_Mutation_p.A84E|ELN_ENST00000320492.7_Missense_Mutation_p.A72E|ELN_ENST00000380553.4_Intron|ELN_ENST00000380584.4_Missense_Mutation_p.A84E|ELN_ENST00000380575.4_Missense_Mutation_p.A74E|ELN_ENST00000380562.4_Missense_Mutation_p.A84E|ELN_ENST00000380576.5_Missense_Mutation_p.A84E|ELN_ENST00000429192.1_Missense_Mutation_p.A84E|ELN_ENST00000320399.6_Missense_Mutation_p.A84E|ELN_ENST00000414324.1_Missense_Mutation_p.A74E|ELN_ENST00000445912.1_Missense_Mutation_p.A84E|ELN_ENST00000358929.4_Missense_Mutation_p.A84E	NM_000501.2|NM_001278915.1	NP_000492.2|NP_001265844.1	P15502	ELN_HUMAN	elastin	84					blood circulation (GO:0008015)|blood vessel remodeling (GO:0001974)|cell proliferation (GO:0008283)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|organ morphogenesis (GO:0009887)|regulation of actin filament polymerization (GO:0030833)|respiratory gaseous exchange (GO:0007585)|skeletal muscle tissue development (GO:0007519)|stress fiber assembly (GO:0043149)	elastic fiber (GO:0071953)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix binding (GO:0050840)|extracellular matrix constituent conferring elasticity (GO:0030023)|extracellular matrix structural constituent (GO:0005201)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(4)|pancreas(2)|prostate(1)|skin(2)|stomach(1)	32		Lung NSC(55;0.159)				GCCTTCCCCGCAGTTACCTTT	0.637			T	PAX5	B-ALL		"Supravalvular Aortic Stenosis, Cutis laxa , Williams-Beuren Syndrome"																															ENST00000252034.7				Dom	yes		7	7q11.23	2006	T	elastin	yes	"Supravalvular Aortic Stenosis, Cutis laxa , Williams-Beuren Syndrome"	L	PAX5		B-ALL		0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(4)|pancreas(2)|prostate(1)|skin(2)|stomach(1)	32						c.(250-252)gCa>gAa		elastin	Rofecoxib(DB00533)						62	63	62					7																	73456962		2203	4300	6503	SO:0001583	missense	2006				blood circulation|cell proliferation|organ morphogenesis|respiratory gaseous exchange	proteinaceous extracellular matrix	extracellular matrix constituent conferring elasticity|protein binding	g.chr7:73456962C>A		CCDS5562.2, CCDS43598.1, CCDS43599.1, CCDS47611.1, CCDS47612.1, CCDS64673.1, CCDS64674.1, CCDS64675.1, CCDS64676.1, CCDS64677.1, CCDS64678.1, CCDS75616.1, CCDS75617.1	7q11.1-q21.1	2008-08-01	2008-08-01		ENSG00000049540	ENSG00000049540			3327	protein-coding gene	gene with protein product	"tropoelastin", "supravalvular aortic stenosis", "Williams-Beuren syndrome"	130160				8096434	Standard	NM_001278939		Approved	WBS, WS, SVAS	uc003tzn.3	P15502	OTTHUMG00000150229	ENST00000252034.7:c.251C>A	7.37:g.73456962C>A	ENSP00000252034:p.Ala84Glu					ELN_ENST00000445912.1_Missense_Mutation_p.A84E|ELN_ENST00000429192.1_Missense_Mutation_p.A84E|ELN_ENST00000458204.1_Missense_Mutation_p.A74E|ELN_ENST00000380553.4_Intron|ELN_ENST00000414324.1_Missense_Mutation_p.A74E|ELN_ENST00000380575.4_Missense_Mutation_p.A74E|ELN_ENST00000380562.4_Missense_Mutation_p.A84E|ELN_ENST00000357036.5_Missense_Mutation_p.A84E|ELN_ENST00000320399.6_Missense_Mutation_p.A84E|ELN_ENST00000320492.7_Missense_Mutation_p.A72E|ELN_ENST00000380584.4_Missense_Mutation_p.A84E|ELN_ENST00000358929.4_Missense_Mutation_p.A84E|ELN_ENST00000380576.5_Missense_Mutation_p.A84E	p.A84E	NM_000501.2	NP_000492.2	P15502	ELN_HUMAN			6	650	+		Lung NSC(55;0.159)	84					B3KTS6|O15336|O15337|Q14233|Q14234|Q14235|Q14238|Q6P0L4|Q6ZWJ6|Q75MU5|Q7Z316|Q7Z3F5|Q9UMF5	Missense_Mutation	SNP	ENST00000252034.7	37	c.251C>A	CCDS5562.2	.	.	.	.	.	.	.	.	.	.	C	12.33	1.904789	0.33628	.	.	ENSG00000049540	ENST00000445912;ENST00000252034;ENST00000358929;ENST00000431562;ENST00000320492;ENST00000438906;ENST00000414324;ENST00000380562;ENST00000380575;ENST00000380584;ENST00000458204;ENST00000357036;ENST00000417091;ENST00000429192;ENST00000442310;ENST00000380576;ENST00000428787;ENST00000320399	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.48836	1.18;1.19;1.16;1.37;0.8;1.23;1.19;1.2;1.21;1.2;1.19;1.18;1.2;1.17	3.92	-2.38	0.06622	.	.	.	.	.	T	0.33990	0.0882	L	0.51422	1.61	0.09310	N	1	P;P;P;P;P;P;P;P;P;P;P;P	0.36535	0.557;0.557;0.557;0.557;0.557;0.557;0.557;0.557;0.557;0.557;0.557;0.557	B;B;B;B;B;B;B;B;B;B;B;B	0.30572	0.117;0.117;0.117;0.117;0.117;0.117;0.117;0.117;0.117;0.117;0.117;0.117	T	0.16482	-1.0401	9	0.27785	T	0.31	-0.4892	9.288	0.37769	0.0:0.2476:0.6469:0.1055	.	84;72;74;74;84;74;84;84;84;74;84;84	E7ENM0;G5E950;G3V0G6;E7EN65;P15502-1;P15502-7;P15502-12;P15502-5;P15502-13;B3KRT8;P15502-8;P15502-2	.;.;.;.;.;.;.;.;.;.;.;.	E	84;84;84;62;72;72;74;84;74;84;74;84;84;84;84;84;84;84	ENSP00000389857:A84E;ENSP00000252034:A84E;ENSP00000351807:A84E;ENSP00000315607:A72E;ENSP00000406949:A72E;ENSP00000392575:A74E;ENSP00000369936:A84E;ENSP00000369949:A74E;ENSP00000369958:A84E;ENSP00000403162:A74E;ENSP00000349540:A84E;ENSP00000391129:A84E;ENSP00000369950:A84E;ENSP00000313565:A84E	ENSP00000252034:A84E	A	+	2	0	ELN	73094898	0.028000	0.19301	0.003000	0.11579	0.022000	0.10575	0.107000	0.15375	-0.286000	0.09076	0.462000	0.41574	GCA		0.637	ELN-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000316913.1	NM_000501		10	52	1	0	1	1	1	10	52					A	73456962	C	A	73456962	3	1	416	1	0	0	0	0	1	0	0	0	5071	710	25	5	273	5	ELN	7	73456962	Missense_Mutation	SNP	C	TCGA-VP-A87D-01A-11D-A34U-08		73456962	85681701	31	20175											
SAMD9L	219285	broad.mit.edu	37	chr7	92761817	92761817	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aaagctcttgaggctttttcCgcagcttctaggagatgtgt	8	14	11	8	1	2	2	0	1	2	1	3	3	3	2	1	2	2	4	1	2	2	5	rs202124049		TCGA-VP-A87D-01A-11D-A34U-08	TCGA-VP-A87D-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a582e00-aad2-4360-868a-9ab8fa301eaa	4ca66d58-c6b9-4c71-b209-aa0a52690c09	g.chr7:92761817C>T	ENST00000318238.4	-	5	4684	c.3468G>A	c.(3466-3468)gcG>gcA	p.A1156A	SAMD9L_ENST00000411955.1_Silent_p.A1156A|SAMD9L_ENST00000437805.1_Silent_p.A1156A	NM_152703.2	NP_689916.2	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like	1156					common myeloid progenitor cell proliferation (GO:0035726)|endosomal vesicle fusion (GO:0034058)|hematopoietic progenitor cell differentiation (GO:0002244)|regulation of protein catabolic process (GO:0042176)|spleen development (GO:0048536)|stem cell division (GO:0017145)	early endosome (GO:0005769)				central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			AGGCTTTTTCCGCAGCTTCTA	0.413																																						ENST00000318238.4																			0				central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88						c.(3466-3468)gcG>gcA		sterile alpha motif domain containing 9-like							131	137	135					7																	92761817		2203	4300	6503	SO:0001819	synonymous_variant	219285							g.chr7:92761817C>T	AB095926	CCDS34681.1	7q21.2	2013-01-10		2005-04-26	ENSG00000177409	ENSG00000177409		"Sterile alpha motif (SAM) domain containing"	1349	protein-coding gene	gene with protein product		611170	"chromosome 7 open reading frame 6"	C7orf6			Standard	NM_152703		Approved	KIAA2005, FLJ39885	uc003umh.1	Q8IVG5	OTTHUMG00000155807	ENST00000318238.4:c.3468G>A	7.37:g.92761817C>T						SAMD9L_ENST00000411955.1_Silent_p.A1156A|SAMD9L_ENST00000437805.1_Silent_p.A1156A	p.A1156A	NM_152703.2	NP_689916.2	Q8IVG5	SAM9L_HUMAN	STAD - Stomach adenocarcinoma(171;0.000302)		5	4684	-	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		1156					A0JP23|A0JP24|A0PJG8|A4D1G8|D6W5Q6|Q2TV71|Q2TV75|Q2UZV8|Q8IWI4|Q8N3L9|Q8N875	Silent	SNP	ENST00000318238.4	37	c.3468G>A	CCDS34681.1																																																																																				0.413	SAMD9L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341730.1	NM_152703		86	156	0	0	0	1	0	86	156					T	92761817	C	T	92761817	2	4	416	1	0	0	0	0	0	0	0	1	13827	639	23	2		2	SAMD9L	7	92761817	Silent	SNP	C	TCGA-VP-A87D-01A-11D-A34U-08	19304855	92761817	66376846	32	20176											
MUC17	140453	broad.mit.edu	37	chr7	100679543	100679543	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aagccagttcatctacaaccGctgaaggtagcagcatgaca	14	7	9	11	1	2	2	1	2	1	0	2	2	2	2	2	1	5	5	2	1	5	3			TCGA-VP-A87D-01A-11D-A34U-08	TCGA-VP-A87D-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a582e00-aad2-4360-868a-9ab8fa301eaa	4ca66d58-c6b9-4c71-b209-aa0a52690c09	g.chr7:100679543G>A	ENST00000306151.4	+	3	4910	c.4846G>A	c.(4846-4848)Gct>Act	p.A1616T		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1616	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)	p.A1616T(1)		NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					ATCTACAACCGCTGAAGGTAG	0.502																																						ENST00000306151.4																			1	Substitution - Missense(1)	p.A1616T(1)	lung(1)	NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343						c.(4846-4848)Gct>Act		mucin 17, cell surface associated							200	203	202					7																	100679543		2203	4300	6503	SO:0001583	missense	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100679543G>A	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"Mucins"	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.4846G>A	7.37:g.100679543G>A	ENSP00000302716:p.Ala1616Thr						p.A1616T	NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN			3	4910	+	Lung NSC(181;0.136)|all_lung(186;0.182)		1616			59 X approximate tandem repeats.|Ser-rich.		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	c.4846G>A	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	G	3.466	-0.109007	0.06924	.	.	ENSG00000169876	ENST00000306151	T	0.02085	4.46	0.806	0.806	0.18708	.	.	.	.	.	T	0.00998	0.0033	N	0.14661	0.345	0.09310	N	1	B	0.33171	0.4	B	0.17098	0.017	T	0.39143	-0.9628	9	0.02654	T	1	.	5.0545	0.14525	0.0:0.0:1.0:0.0	.	1616	Q685J3	MUC17_HUMAN	T	1616	ENSP00000302716:A1616T	ENSP00000302716:A1616T	A	+	1	0	MUC17	100466263	0.000000	0.05858	0.005000	0.12908	0.020000	0.10135	-4.472000	0.00228	0.772000	0.33382	0.064000	0.15345	GCT		0.502	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		120	200	0	0	0	1	0	120	200					A	100679543	G	A	100679543	3	1	416	1	0	0	0	0	1	0	0	0	9974	1087	38	1	4856	1	MUC17	7	100679543	Missense_Mutation	SNP	G	TCGA-VP-A87D-01A-11D-A34U-08	7917726	100679543	58459120	33	20177											
PHF2	5253	broad.mit.edu	37	chr9	96418836	96418836	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtttcccaactttgaaactgCgtgctggtacatggggaagc	9	11	12	9	1	0	1	0	1	0	0	1	2	1	2	1	3	6	3	1	3	4	3			TCGA-VP-A87D-01A-11D-A34U-08	TCGA-VP-A87D-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a582e00-aad2-4360-868a-9ab8fa301eaa	4ca66d58-c6b9-4c71-b209-aa0a52690c09	g.chr9:96418836C>T	ENST00000359246.4	+	9	1473	c.1106C>T	c.(1105-1107)gCg>gTg	p.A369V	PHF2_ENST00000375376.4_Intron	NM_005392.3	NP_005383.3	O75151	PHF2_HUMAN	PHD finger protein 2	369					liver development (GO:0001889)|negative regulation of chromatin silencing at rDNA (GO:0061188)|protein demethylation (GO:0006482)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|histone demethylase activity (H3-K9 specific) (GO:0032454)|iron ion binding (GO:0005506)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40		Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;9.11e-28)		TTTGAAACTGCGTGCTGGTAC	0.562																																						ENST00000359246.4																			0				breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						c.(1105-1107)gCg>gTg		PHD finger protein 2							131	142	138					9																	96418836		2203	4300	6503	SO:0001583	missense	5253				liver development|negative regulation of chromatin silencing at rDNA|transcription, DNA-dependent	nucleolus	histone demethylase activity (H3-K9 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding	g.chr9:96418836C>T	AF043725	CCDS35069.1	9q22	2013-01-28			ENSG00000197724	ENSG00000197724		"Chromatin-modifying enzymes / K-demethylases", "Zinc fingers, PHD-type"	8920	protein-coding gene	gene with protein product	"jumonji C domain-containing histone demethylase 1E", "centromere protein 35"	604351				10051327, 20129925	Standard	NM_005392		Approved	KIAA0662, JHDM1E, CENP-35	uc004aub.3	O75151	OTTHUMG00000020253	ENST00000359246.4:c.1106C>T	9.37:g.96418836C>T	ENSP00000352185:p.Ala369Val					PHF2_ENST00000375376.4_Intron	p.A369V	NM_005392.3	NP_005383.3	O75151	PHF2_HUMAN		OV - Ovarian serous cystadenocarcinoma(323;9.11e-28)	9	1473	+		Myeloproliferative disorder(762;0.0255)	369					Q4VXG0|Q8N3K2|Q9Y6N4	Missense_Mutation	SNP	ENST00000359246.4	37	c.1106C>T	CCDS35069.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.979042	0.74360	.	.	ENSG00000197724	ENST00000359246	T	0.37752	1.18	4.47	4.47	0.54385	.	0.000000	0.85682	D	0.000000	T	0.43500	0.1250	L	0.39898	1.24	0.80722	D	1	D	0.89917	1.0	P	0.54210	0.745	T	0.26643	-1.0097	10	0.35671	T	0.21	-30.6001	17.3192	0.87232	0.0:1.0:0.0:0.0	.	369	O75151	PHF2_HUMAN	V	369	ENSP00000352185:A369V	ENSP00000352185:A369V	A	+	2	0	PHF2	95458657	1.000000	0.71417	1.000000	0.80357	0.819000	0.46315	4.748000	0.62148	2.300000	0.77407	0.305000	0.20034	GCG		0.562	PHF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053162.1	NM_005392		35	26	0	0	0	1	0	35	26					T	96418836	C	T	96418836	3	4	416	1	0	0	0	0	1	0	0	0	11830	768	27	1	1140	1	PHF2	9	96418836	Missense_Mutation	SNP	C	TCGA-VP-A87D-01A-11D-A34U-08		96418836	44794595	34	20178											
OR5C1	392391	broad.mit.edu	37	chr9	125551593	125551593	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatggcctatgaccgctacGtggccatcagaaacccactt	10	8	8	15	2	1	2	1	1	0	1	1	2	1	2	5	2	2	1	5	2	3	3	rs373619805		TCGA-VP-A87D-01A-11D-A34U-08	TCGA-VP-A87D-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a582e00-aad2-4360-868a-9ab8fa301eaa	4ca66d58-c6b9-4c71-b209-aa0a52690c09	g.chr9:125551593G>A	ENST00000373680.2	+	1	444	c.382G>A	c.(382-384)Gtg>Atg	p.V128M		NM_001001923.1	NP_001001923.1	Q8NGR4	OR5C1_HUMAN	olfactory receptor, family 5, subfamily C, member 1	128						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(1)|large_intestine(5)|lung(6)|pancreas(1)|prostate(5)|skin(1)	20						TGACCGCTACGTGGCCATCAG	0.562																																						ENST00000373680.2																			0				NS(1)|endometrium(1)|large_intestine(5)|lung(6)|pancreas(1)|prostate(5)|skin(1)	20						c.(382-384)Gtg>Atg		olfactory receptor, family 5, subfamily C, member 1		G	MET/VAL	1,4405	2.1+/-5.4	0,1,2202	137	129	132		382	1.5	0.4	9		132	0,8600		0,0,4300	no	missense	OR5C1	NM_001001923.1	21	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	128/321	125551593	1,13005	2203	4300	6503	SO:0001583	missense	392391				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:125551593G>A	AF399514	CCDS35131.1	9q34.2	2012-08-09			ENSG00000148215	ENSG00000148215		"GPCR / Class A : Olfactory receptors"	8331	protein-coding gene	gene with protein product				OR5C2P			Standard	NM_001001923		Approved	OR9-F, hRPK-465_F_21	uc011lzd.2	Q8NGR4	OTTHUMG00000020622	ENST00000373680.2:c.382G>A	9.37:g.125551593G>A	ENSP00000362784:p.Val128Met						p.V128M	NM_001001923.1	NP_001001923.1	Q8NGR4	OR5C1_HUMAN			1	444	+			128					B2RN54|B9EGT0|Q96RC4	Missense_Mutation	SNP	ENST00000373680.2	37	c.382G>A	CCDS35131.1	.	.	.	.	.	.	.	.	.	.	G	9.216	1.032262	0.19590	2.27E-4	0.0	ENSG00000148215	ENST00000373680	T	0.01455	4.87	5.33	1.54	0.23209	GPCR, rhodopsin-like superfamily (1);	0.250837	0.20538	U	0.090366	T	0.01835	0.0058	L	0.46670	1.46	0.22961	N	0.998507	B	0.25719	0.132	B	0.17722	0.019	T	0.44406	-0.9330	10	0.41790	T	0.15	.	5.8358	0.18607	0.2943:0.1313:0.5744:0.0	.	128	Q8NGR4	OR5C1_HUMAN	M	128	ENSP00000362784:V128M	ENSP00000362784:V128M	V	+	1	0	OR5C1	124591414	0.801000	0.28930	0.450000	0.26969	0.606000	0.37113	1.086000	0.30853	0.131000	0.18576	-0.732000	0.03574	GTG		0.562	OR5C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053953.1			7	95	0	0	0	1	0	7	95					A	125551593	G	A	125551593	3	1	416	1	0	0	0	0	1	0	0	0	11153	1145	40	1	384	1	OR5C1	9	125551593	Missense_Mutation	SNP	G	TCGA-VP-A87D-01A-11D-A34U-08	29132757	125551593	15661838	35	20179											
OR5M8	219484	broad.mit.edu	37	chr11	56257968	56257968	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aatgcttcttttacatttttAtttctaaggctataaattat	12	21	3	5	0	2	0	0	0	2	0	2	0	2	0	0	1	2	2	0	1	8	11			TCGA-VP-A87D-01A-11D-A34U-08	TCGA-VP-A87D-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a582e00-aad2-4360-868a-9ab8fa301eaa	4ca66d58-c6b9-4c71-b209-aa0a52690c09	g.chr11:56257968A>C	ENST00000327216.2	-	1	903	c.879T>G	c.(877-879)aaT>aaG	p.N293K		NM_001005282.1	NP_001005282.1	Q8NGP6	OR5M8_HUMAN	olfactory receptor, family 5, subfamily M, member 8	293						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(22)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	Esophageal squamous(21;0.00352)					TTACATTTTTATTTCTAAGGC	0.328																																						ENST00000327216.2																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(22)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						c.(877-879)aaT>aaG		olfactory receptor, family 5, subfamily M, member 8							38	43	42					11																	56257968		2200	4293	6493	SO:0001583	missense	219484				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56257968A>C	AB065744	CCDS31533.1	11q11	2012-08-09			ENSG00000181371	ENSG00000181371		"GPCR / Class A : Olfactory receptors"	14846	protein-coding gene	gene with protein product							Standard	NM_001005282		Approved		uc001nix.1	Q8NGP6	OTTHUMG00000166877	ENST00000327216.2:c.879T>G	11.37:g.56257968A>C	ENSP00000323354:p.Asn293Lys						p.N293K	NM_001005282.1	NP_001005282.1	Q8NGP6	OR5M8_HUMAN			1	903	-	Esophageal squamous(21;0.00352)		293					B2RNM5|Q6IEW3|Q96RB8	Missense_Mutation	SNP	ENST00000327216.2	37	c.879T>G	CCDS31533.1	.	.	.	.	.	.	.	.	.	.	A	5.459	0.269831	0.10349	.	.	ENSG00000181371	ENST00000327216	T	0.50001	0.76	4.35	-3.65	0.04502	.	0.000000	0.35096	U	0.003442	T	0.58708	0.2141	H	0.96943	3.91	0.09310	N	1	P	0.39847	0.691	B	0.40228	0.323	T	0.63427	-0.6640	10	0.87932	D	0	-16.2852	11.7121	0.51630	0.4609:0.0:0.5391:0.0	.	293	Q8NGP6	OR5M8_HUMAN	K	293	ENSP00000323354:N293K	ENSP00000323354:N293K	N	-	3	2	OR5M8	56014544	0.000000	0.05858	0.354000	0.25760	0.008000	0.06430	-0.578000	0.05841	-0.671000	0.05274	-0.281000	0.10026	AAT		0.328	OR5M8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391641.1	NM_001005282		17	30	0	0	0	1	0	17	30					C	56257968	A	C	56257968	3	2	416	1	0	0	0	0	1	0	0	0	11176	446	16	5	60	5	OR5M8	11	56257968	Missense_Mutation	SNP	A	TCGA-VP-A87D-01A-11D-A34U-08		56257968	78748548	36	20180											
OR5M8	219484	broad.mit.edu	37	chr11	56258436	56258436	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgaggaaggagcacacactCttggacattctgctgccata	12	9	10	10	0	2	1	0	1	2	0	2	4	2	4	1	3	3	2	1	3	2	3			TCGA-VP-A87D-01A-11D-A34U-08	TCGA-VP-A87D-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a582e00-aad2-4360-868a-9ab8fa301eaa	4ca66d58-c6b9-4c71-b209-aa0a52690c09	g.chr11:56258436C>A	ENST00000327216.2	-	1	435	c.411G>T	c.(409-411)aaG>aaT	p.K137N		NM_001005282.1	NP_001005282.1	Q8NGP6	OR5M8_HUMAN	olfactory receptor, family 5, subfamily M, member 8	137						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(22)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	Esophageal squamous(21;0.00352)					AGCACACACTCTTGGACATTC	0.542																																						ENST00000327216.2																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(22)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						c.(409-411)aaG>aaT		olfactory receptor, family 5, subfamily M, member 8							96	82	87					11																	56258436		2201	4296	6497	SO:0001583	missense	219484				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56258436C>A	AB065744	CCDS31533.1	11q11	2012-08-09			ENSG00000181371	ENSG00000181371		"GPCR / Class A : Olfactory receptors"	14846	protein-coding gene	gene with protein product							Standard	NM_001005282		Approved		uc001nix.1	Q8NGP6	OTTHUMG00000166877	ENST00000327216.2:c.411G>T	11.37:g.56258436C>A	ENSP00000323354:p.Lys137Asn						p.K137N	NM_001005282.1	NP_001005282.1	Q8NGP6	OR5M8_HUMAN			1	435	-	Esophageal squamous(21;0.00352)		137					B2RNM5|Q6IEW3|Q96RB8	Missense_Mutation	SNP	ENST00000327216.2	37	c.411G>T	CCDS31533.1	.	.	.	.	.	.	.	.	.	.	C	5.180	0.218748	0.09810	.	.	ENSG00000181371	ENST00000327216	T	0.21361	2.01	4.41	1.38	0.22167	GPCR, rhodopsin-like superfamily (1);	1.041630	0.07656	N	0.932768	T	0.16428	0.0395	L	0.39514	1.22	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.32348	-0.9910	10	0.30078	T	0.28	-6.4481	5.8521	0.18699	0.1584:0.6557:0.0:0.1858	.	137	Q8NGP6	OR5M8_HUMAN	N	137	ENSP00000323354:K137N	ENSP00000323354:K137N	K	-	3	2	OR5M8	56015012	0.000000	0.05858	0.001000	0.08648	0.047000	0.14425	-2.426000	0.01027	0.408000	0.25621	0.638000	0.83543	AAG		0.542	OR5M8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391641.1	NM_001005282		21	34	1	0	1.87028e-06	1	2.08102e-06	21	34					A	56258436	C	A	56258436	3	1	416	1	0	0	0	0	1	0	0	0	11176	912	32	5	528	5	OR5M8	11	56258436	Missense_Mutation	SNP	C	TCGA-VP-A87D-01A-11D-A34U-08	468	56258436	78748080	37	20181											
DSCAML1	57453	broad.mit.edu	37	chr11	117310071	117310071	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagagtcctcagccttcactGcacgcagcagcagtgtgcca	9	7	10	15	1	2	1	2	0	0	1	3	1	3	1	3	0	5	4	3	0	0	1			TCGA-VP-A87D-01A-11D-A34U-08	TCGA-VP-A87D-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a582e00-aad2-4360-868a-9ab8fa301eaa	4ca66d58-c6b9-4c71-b209-aa0a52690c09	g.chr11:117310071G>C	ENST00000321322.6	-	23	4236	c.4235C>G	c.(4234-4236)gCa>gGa	p.A1412G	DSCAML1_ENST00000527706.1_Missense_Mutation_p.A1142G	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	1352	Fibronectin type-III 5. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axonogenesis (GO:0007409)|brain development (GO:0007420)|cell fate determination (GO:0001709)|central nervous system development (GO:0007417)|dendrite self-avoidance (GO:0070593)|dorsal/ventral pattern formation (GO:0009953)|embryonic skeletal system morphogenesis (GO:0048704)|homophilic cell adhesion (GO:0007156)|negative regulation of cell adhesion (GO:0007162)	cell surface (GO:0009986)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		AGCCTTCACTGCACGCAGCAG	0.602																																						ENST00000321322.6																			0				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110						c.(4234-4236)gCa>gGa		Down syndrome cell adhesion molecule like 1							118	100	106					11																	117310071		2201	4296	6497	SO:0001583	missense	57453				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity	g.chr11:117310071G>C		CCDS8384.1	11q22.2-q22.3	2013-02-11			ENSG00000177103	ENSG00000177103		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	14656	protein-coding gene	gene with protein product		611782				11453658	Standard	NM_020693		Approved	KIAA1132	uc001prh.1	Q8TD84	OTTHUMG00000167071	ENST00000321322.6:c.4235C>G	11.37:g.117310071G>C	ENSP00000315465:p.Ala1412Gly					DSCAML1_ENST00000527706.1_Missense_Mutation_p.A1142G	p.A1412G	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)	23	4236	-	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)	1352			Fibronectin type-III 5.		Q76MU9|Q8IZY3|Q8IZY4|Q8WXU7|Q9ULT7	Missense_Mutation	SNP	ENST00000321322.6	37	c.4235C>G	CCDS8384.1	.	.	.	.	.	.	.	.	.	.	G	14.01	2.406488	0.42715	.	.	ENSG00000177103	ENST00000527706;ENST00000321322;ENST00000446508	T;T	0.26373	1.74;1.74	4.76	4.76	0.60689	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.19604	0.0471	N	0.10685	0.025	0.53005	D	0.999964	B	0.26547	0.152	B	0.36766	0.232	T	0.15694	-1.0428	9	0.30854	T	0.27	.	17.9645	0.89096	0.0:0.0:1.0:0.0	.	1352	Q8TD84	DSCL1_HUMAN	G	1142;1412;1119	ENSP00000434335:A1142G;ENSP00000315465:A1412G	ENSP00000315465:A1412G	A	-	2	0	DSCAML1	116815281	1.000000	0.71417	0.107000	0.21349	0.186000	0.23388	7.831000	0.86748	2.480000	0.83734	0.462000	0.41574	GCA		0.602	DSCAML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392907.2	NM_020693		24	30	0	0	0	1	0	24	30					C	117310071	G	C	117310071	3	2	416	1	0	0	0	0	1	0	0	0	4769	1319	46	5	2150	5	DSCAML1	11	117310071	Missense_Mutation	SNP	G	TCGA-VP-A87D-01A-11D-A34U-08	61051635	117310071	17696445	38	20182											
ZC3H13	23091	broad.mit.edu	37	chr13	46549634	46549634	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tctctctctcttctctttctCgttcccgttctttttccctg	0	22	3	16	2	6	0	0	0	6	0	12	0	8	0	2	0	0	2	2	0	0	6	rs528381815		TCGA-VP-A87D-01A-11D-A34U-08	TCGA-VP-A87D-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a582e00-aad2-4360-868a-9ab8fa301eaa	4ca66d58-c6b9-4c71-b209-aa0a52690c09	g.chr13:46549634C>T	ENST00000242848.4	-	12	2600	c.2252G>A	c.(2251-2253)cGa>cAa	p.R751Q	ZC3H13_ENST00000282007.3_Missense_Mutation_p.R751Q			Q5T200	ZC3HD_HUMAN	zinc finger CCCH-type containing 13	751	Arg/Glu-rich.						metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|lung(25)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	79		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;4.18e-05)		ttctctttctcgttcccgttc	0.512													C|||	1	0.000199681	0	0	5008	,	,		20474	0.001		0	False		,,,				2504	0				Esophageal Squamous(187;747 2077 11056 31291 44172)	ENST00000242848.4																			0				cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|lung(25)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	79						c.(2251-2253)cGa>cAa		zinc finger CCCH-type containing 13							173	140	151					13																	46549634		2203	4298	6501	SO:0001583	missense	23091						nucleic acid binding|zinc ion binding	g.chr13:46549634C>T	AB020660	CCDS9400.1	13q14.11	2012-07-05	2006-05-15	2006-05-15	ENSG00000123200	ENSG00000123200		"Zinc fingers, CCCH-type domain containing"	20368	protein-coding gene	gene with protein product			"KIAA0853"	KIAA0853		10048485	Standard	XM_005266301		Approved	DKFZp434D1812	uc001vas.1	Q5T200	OTTHUMG00000016863	ENST00000242848.4:c.2252G>A	13.37:g.46549634C>T	ENSP00000242848:p.Arg751Gln					ZC3H13_ENST00000282007.3_Missense_Mutation_p.R751Q	p.R751Q			Q5T200	ZC3HD_HUMAN	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;4.18e-05)	12	2600	-		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	751			Arg/Glu-rich.		A2A323|O94936|Q5T1Z9|Q7Z7J3|Q8NDT6|Q9H0L6	Missense_Mutation	SNP	ENST00000242848.4	37	c.2252G>A		.	.	.	.	.	.	.	.	.	.	C	15.37	2.813931	0.50527	.	.	ENSG00000123200	ENST00000242848;ENST00000282007	T;T	0.38887	2.09;1.11	5.19	5.19	0.71726	.	0.000000	0.45606	D	0.000357	T	0.61751	0.2372	.	.	.	0.80722	D	1	D;D	0.71674	0.997;0.998	D;D	0.75484	0.968;0.986	T	0.55270	-0.8167	9	0.24483	T	0.36	.	18.6794	0.91541	0.0:1.0:0.0:0.0	.	751;751	Q5T200;Q5T200-2	ZC3HD_HUMAN;.	Q	751	ENSP00000242848:R751Q;ENSP00000282007:R751Q	ENSP00000242848:R751Q	R	-	2	0	ZC3H13	45447635	1.000000	0.71417	1.000000	0.80357	0.838000	0.47535	6.086000	0.71352	2.567000	0.86603	0.557000	0.71058	CGA		0.512	ZC3H13-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000044789.1	NM_015070		9	23	0	0	0	1	0	9	23					T	46549634	C	T	46549634	3	4	416	1	0	0	0	0	1	0	0	0	17562	884	31	2	2466	2	ZC3H13	13	46549634	Missense_Mutation	SNP	C	TCGA-VP-A87D-01A-11D-A34U-08		46549634	68620244	39	20183											
MYO16	23026	broad.mit.edu	37	chr13	109793599	109793599	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccagtgcctcgccccccgCgccctacagccctcccagct	4	6	7	24	3	0	0	0	0	0	0	3	0	2	0	8	0	4	1	8	0	1	1			TCGA-VP-A87D-01A-11D-A34U-08	TCGA-VP-A87D-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a582e00-aad2-4360-868a-9ab8fa301eaa	4ca66d58-c6b9-4c71-b209-aa0a52690c09	g.chr13:109793599C>T	ENST00000357550.2	+	31	5014	c.4973C>T	c.(4972-4974)gCg>gTg	p.A1658V	MYO16_ENST00000356711.2_Missense_Mutation_p.A1658V	NM_001198950.1	NP_001185879.1			myosin XVI											NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			TCGCCCCCCGCGCCCTACAGC	0.701																																						ENST00000356711.2																			0				NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121						c.(4972-4974)gCg>gTg		myosin XVI																																				SO:0001583	missense	23026				cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle	myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane	actin filament binding|ATP binding|motor activity	g.chr13:109793599C>T		CCDS32008.1, CCDS73598.1	13q33.3	2014-06-12			ENSG00000041515	ENSG00000041515		"Myosins / Myosin superfamily : Class XVI", "Ankyrin repeat domain containing"	29822	protein-coding gene	gene with protein product	"neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 3", "protein phosphatase 1, regulatory subunit 107"	615479				11588169, 17029291, 21946561	Standard	NM_001198950		Approved	MYR8, KIAA0865, Myo16b, NYAP3, PPP1R107	uc001vqt.1	Q9Y6X6	OTTHUMG00000017333	ENST00000357550.2:c.4973C>T	13.37:g.109793599C>T	ENSP00000350160:p.Ala1658Val					MYO16_ENST00000357550.2_Missense_Mutation_p.A1658V	p.A1658V	NM_015011.1	NP_055826.1	Q9Y6X6	MYO16_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)		32	5099	+	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		1658			Pro-rich.			Missense_Mutation	SNP	ENST00000357550.2	37	c.4973C>T	CCDS32008.1	.	.	.	.	.	.	.	.	.	.	C	11.09	1.535402	0.27475	.	.	ENSG00000041515	ENST00000356711;ENST00000357550	T;T	0.39787	1.06;1.06	5.26	-1.57	0.08506	.	2.762460	0.02475	N	0.087978	T	0.20577	0.0495	N	0.04508	-0.205	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.12243	-1.0555	9	.	.	.	.	6.5903	0.22644	0.0:0.1913:0.3258:0.4829	.	1658	Q9Y6X6	MYO16_HUMAN	V	1658	ENSP00000349145:A1658V;ENSP00000350160:A1658V	.	A	+	2	0	MYO16	108591600	0.002000	0.14202	0.000000	0.03702	0.017000	0.09413	0.827000	0.27421	-0.580000	0.05944	0.467000	0.42956	GCG		0.701	MYO16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045746.1	NM_015011		5	9	0	0	0	1	0	5	9					T	109793599	C	T	109793599	3	4	416	1	0	0	0	0	1	0	0	0	10064	768	27	1	5095	1	MYO16	13	109793599	Missense_Mutation	SNP	C	TCGA-VP-A87D-01A-11D-A34U-08	63243965	109793599	5376279	40	20184											
PIGH	5283	broad.mit.edu	37	chr14	68066841	68066841	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcagctgaggcagaattccCggcaggacggggagtagtag	10	5	18	8	2	0	2	0	1	0	1	1	4	1	4	1	6	1	6	1	6	3	3			TCGA-VP-A87D-01A-11D-A34U-08	TCGA-VP-A87D-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a582e00-aad2-4360-868a-9ab8fa301eaa	4ca66d58-c6b9-4c71-b209-aa0a52690c09	g.chr14:68066841C>G	ENST00000216452.4	-	1	163	c.80G>C	c.(79-81)cGg>cCg	p.R27P	PIGH_ENST00000559581.1_Missense_Mutation_p.R27P|PIGH_ENST00000560722.1_Missense_Mutation_p.R27P	NM_004569.3	NP_004560.1	Q14442	PIGH_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class H	27					C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|cellular protein modification process (GO:0006464)|GPI anchor biosynthetic process (GO:0006506)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex (GO:0000506)	catalytic activity (GO:0003824)|phosphatidylinositol N-acetylglucosaminyltransferase activity (GO:0017176)			endometrium(1)|large_intestine(1)|lung(1)|ovary(1)	4				all cancers(60;0.000592)|OV - Ovarian serous cystadenocarcinoma(108;0.00395)|BRCA - Breast invasive adenocarcinoma(234;0.00933)		GCAGAATTCCCGGCAGGACGG	0.687											OREG0022750	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000216452.4																			0				endometrium(1)|large_intestine(1)|lung(1)|ovary(1)	4						c.(79-81)cGg>cCg		phosphatidylinositol glycan anchor biosynthesis, class H							13	15	15					14																	68066841		2181	4284	6465	SO:0001583	missense	5283				C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex|mitochondrion|nucleolus	phosphatidylinositol N-acetylglucosaminyltransferase activity	g.chr14:68066841C>G		CCDS9784.1	14q24.1	2013-02-26	2006-06-28		ENSG00000100564	ENSG00000100564	2.4.1.198	"Phosphatidylinositol glycan anchor biosynthesis"	8964	protein-coding gene	gene with protein product	"phosphatidylinositol N-acetylglucosaminyltransferase subunit"	600154	"phosphatidylinositol glycan, class H"			8204896	Standard	NM_004569		Approved	GPI-H	uc001xjr.1	Q14442	OTTHUMG00000171806	ENST00000216452.4:c.80G>C	14.37:g.68066841C>G	ENSP00000216452:p.Arg27Pro		OREG0022750	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1104	PIGH_ENST00000560722.1_Missense_Mutation_p.R27P|PIGH_ENST00000559581.1_Missense_Mutation_p.R27P	p.R27P	NM_004569.3	NP_004560.1	Q14442	PIGH_HUMAN		all cancers(60;0.000592)|OV - Ovarian serous cystadenocarcinoma(108;0.00395)|BRCA - Breast invasive adenocarcinoma(234;0.00933)	1	163	-			27					B2RAA4	Missense_Mutation	SNP	ENST00000216452.4	37	c.80G>C	CCDS9784.1	.	.	.	.	.	.	.	.	.	.	C	25.7	4.668595	0.88348	.	.	ENSG00000100564	ENST00000216452	.	.	.	4.74	3.83	0.44106	.	0.125359	0.52532	D	0.000065	T	0.65512	0.2698	L	0.32530	0.975	0.53005	D	0.999969	P;D	0.76494	0.948;0.999	P;D	0.85130	0.63;0.997	T	0.66846	-0.5820	9	0.49607	T	0.09	.	14.3139	0.66434	0.1578:0.8422:0.0:0.0	.	27;27	B4DEE2;Q14442	.;PIGH_HUMAN	P	27	.	ENSP00000216452:R27P	R	-	2	0	PIGH	67136594	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.156000	0.50708	1.166000	0.42689	0.462000	0.41574	CGG		0.687	PIGH-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000415189.2	NM_004569		4	7	0	0	0	1	0	4	7					G	68066841	C	G	68066841	3	3	416	1	0	0	0	0	1	0	0	0	11889	652	23	5	502	5	PIGH	14	68066841	Missense_Mutation	SNP	C	TCGA-VP-A87D-01A-11D-A34U-08		68066841	39282699	41	20185											
KCNK10	54207	broad.mit.edu	37	chr14	88729884	88729884	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctggcacaccggtgctgctgCgggaacggccactgaggagt	7	6	16	12	3	0	1	0	1	0	0	0	3	0	3	2	5	4	3	2	5	1	0			TCGA-VP-A87D-01A-11D-A34U-08	TCGA-VP-A87D-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a582e00-aad2-4360-868a-9ab8fa301eaa	4ca66d58-c6b9-4c71-b209-aa0a52690c09	g.chr14:88729884C>T	ENST00000340700.5	-	2	500	c.49G>A	c.(49-51)Gca>Aca	p.A17T	KCNK10_ENST00000312350.5_Missense_Mutation_p.A22T|KCNK10_ENST00000319231.5_Missense_Mutation_p.A22T	NM_021161.4	NP_066984.1	P57789	KCNKA_HUMAN	potassium channel, subfamily K, member 10	17					signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transport (GO:0006810)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	potassium channel activity (GO:0005267)|voltage-gated ion channel activity (GO:0005244)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	47						GGTGCTGCTGCGGGAACGGCC	0.562																																						ENST00000340700.5																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	47						c.(49-51)Gca>Aca		potassium channel, subfamily K, member 10							25	30	28					14																	88729884		2187	4274	6461	SO:0001583	missense	54207				signal transduction	integral to membrane	potassium channel activity|voltage-gated ion channel activity	g.chr14:88729884C>T	AF279890	CCDS9880.1, CCDS9881.1, CCDS9882.1	14q31	2014-06-12						"Potassium channels", "Voltage-gated ion channels / Potassium channels, Two-P"	6273	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 97"	605873				10880510, 16382106	Standard	NM_021161		Approved	K2p10.1, TREK-2, TREK2, PPP1R97	uc001xwn.3	P57789		ENST00000340700.5:c.49G>A	14.37:g.88729884C>T	ENSP00000343104:p.Ala17Thr					KCNK10_ENST00000312350.5_Missense_Mutation_p.A22T|KCNK10_ENST00000319231.5_Missense_Mutation_p.A22T	p.A17T	NM_021161.4	NP_066984.1	P57789	KCNKA_HUMAN			2	500	-			17					B2R8T4|B2RCT3|B5TJL4|Q6B014|Q8TDK7|Q8TDK8|Q9HB59	Missense_Mutation	SNP	ENST00000340700.5	37	c.49G>A	CCDS9880.1	.	.	.	.	.	.	.	.	.	.	C	14.63	2.593621	0.46214	.	.	ENSG00000100433	ENST00000340700;ENST00000312350;ENST00000319231;ENST00000556282	D;D;D;T	0.91686	-2.84;-2.89;-2.72;0.78	5.86	4.01	0.46588	.	2.472170	0.01372	N	0.012636	D	0.89252	0.6662	L	0.42245	1.32	0.29160	N	0.877828	B;B;B	0.24368	0.0;0.102;0.0	B;B;B	0.17722	0.0;0.019;0.0	T	0.76192	-0.3049	10	0.72032	D	0.01	.	5.4436	0.16523	0.2891:0.5323:0.1088:0.0698	.	17;22;22	P57789;B2R8T4;Q6B014	KCNKA_HUMAN;.;.	T	17;22;22;5	ENSP00000343104:A17T;ENSP00000310568:A22T;ENSP00000312811:A22T;ENSP00000452587:A5T	ENSP00000310568:A22T	A	-	1	0	KCNK10	87799637	0.012000	0.17670	0.842000	0.33263	0.768000	0.43524	0.296000	0.19083	0.887000	0.36136	0.650000	0.86243	GCA		0.562	KCNK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410167.1	NM_021161		7	53	0	0	0	1	0	7	53					T	88729884	C	T	88729884	3	4	416	1	0	0	0	0	1	0	0	0	8059	768	27	1	1591	1	KCNK10	14	88729884	Missense_Mutation	SNP	C	TCGA-VP-A87D-01A-11D-A34U-08	20663043	88729884	18619656	42	20186											
SLC12A6	9990	broad.mit.edu	37	chr15	34528968	34528968	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gagcatctgggacctttgttCcatcatcaaagtgcgctcgt	8	12	10	11	2	3	0	2	0	1	0	5	2	4	1	2	1	2	3	2	1	1	2			TCGA-VP-A87D-01A-11D-A34U-08	TCGA-VP-A87D-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a582e00-aad2-4360-868a-9ab8fa301eaa	4ca66d58-c6b9-4c71-b209-aa0a52690c09	g.chr15:34528968C>A	ENST00000354181.3	-	23	3475	c.2983G>T	c.(2983-2985)Gaa>Taa	p.E995*	SLC12A6_ENST00000560164.1_Nonsense_Mutation_p.E807*|SLC12A6_ENST00000397707.2_Nonsense_Mutation_p.E980*|SLC12A6_ENST00000560611.1_Nonsense_Mutation_p.E995*|SLC12A6_ENST00000397702.2_Nonsense_Mutation_p.E936*|SLC12A6_ENST00000290209.5_Nonsense_Mutation_p.E944*|SLC12A6_ENST00000458406.2_Nonsense_Mutation_p.E936*|SLC12A6_ENST00000558589.1_Nonsense_Mutation_p.E986*|SLC12A6_ENST00000558667.1_Nonsense_Mutation_p.E995*|SLC12A6_ENST00000451844.2_Nonsense_Mutation_p.E807*			Q9UHW9	S12A6_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 6	995					angiogenesis (GO:0001525)|cellular hypotonic response (GO:0071476)|cellular hypotonic salinity response (GO:0071477)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|rubidium ion transport (GO:0035826)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	potassium ion transmembrane transporter activity (GO:0015079)|potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)|rubidium ion transmembrane transporter activity (GO:0035827)			central_nervous_system(5)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|skin(3)	45		all_lung(180;2.78e-08)		all cancers(64;3.43e-17)|GBM - Glioblastoma multiforme(113;2.6e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0301)	Potassium Chloride(DB00761)	GACCTTTGTTCCATCATCAAA	0.458																																						ENST00000354181.3																			0				central_nervous_system(5)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|skin(3)	45						c.(2983-2985)Gaa>Taa		solute carrier family 12 (potassium/chloride transporter), member 6	Potassium Chloride(DB00761)						221	190	200					15																	34528968		2201	4298	6499	SO:0001587	stop_gained	9990				angiogenesis|cellular hypotonic salinity response|potassium ion transport|sodium ion transport	basolateral plasma membrane|integral to membrane	potassium:chloride symporter activity	g.chr15:34528968C>A	AF108831	CCDS10036.1, CCDS42010.1, CCDS42011.1, CCDS42012.1, CCDS58352.1	15q13	2014-09-17	2013-07-18		ENSG00000140199	ENSG00000140199		"Solute carriers"	10914	protein-coding gene	gene with protein product		604878	"agenesis of corpus callosum and peripheral neuropathy (Andermann syndrome)"	KCC3, ACCPN		10187864, 10347194	Standard	NM_133647		Approved		uc001zhw.3	Q9UHW9	OTTHUMG00000129441	ENST00000354181.3:c.2983G>T	15.37:g.34528968C>A	ENSP00000346112:p.Glu995*					SLC12A6_ENST00000458406.2_Nonsense_Mutation_p.E936*|SLC12A6_ENST00000451844.2_Nonsense_Mutation_p.E807*|SLC12A6_ENST00000397707.2_Nonsense_Mutation_p.E980*|SLC12A6_ENST00000290209.5_Nonsense_Mutation_p.E944*|SLC12A6_ENST00000558589.1_Nonsense_Mutation_p.E986*|SLC12A6_ENST00000558667.1_Nonsense_Mutation_p.E995*|SLC12A6_ENST00000560164.1_Nonsense_Mutation_p.E807*|SLC12A6_ENST00000560611.1_Nonsense_Mutation_p.E995*|SLC12A6_ENST00000397702.2_Nonsense_Mutation_p.E936*	p.E995*			Q9UHW9	S12A6_HUMAN		all cancers(64;3.43e-17)|GBM - Glioblastoma multiforme(113;2.6e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0301)	23	3475	-		all_lung(180;2.78e-08)	995					A0AV76|Q2VI00|Q7Z2E7|Q7Z4G5|Q8TDD4|Q9UFR2|Q9Y642|Q9Y665	Nonsense_Mutation	SNP	ENST00000354181.3	37	c.2983G>T	CCDS58352.1	.	.	.	.	.	.	.	.	.	.	C	42	9.391632	0.99158	.	.	ENSG00000140199	ENST00000290209;ENST00000397707;ENST00000354181;ENST00000397702;ENST00000458406;ENST00000451844	.	.	.	5.16	5.16	0.70880	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	17.5803	0.87965	0.0:1.0:0.0:0.0	.	.	.	.	X	944;980;986;936;936;807	.	ENSP00000290209:E944X	E	-	1	0	SLC12A6	32316260	1.000000	0.71417	1.000000	0.80357	0.876000	0.50452	7.651000	0.83577	2.692000	0.91855	0.650000	0.86243	GAA		0.458	SLC12A6-003	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000417991.1	NM_005135		13	71	1	0	0.00316338	1	0.00328825	13	71					A	34528968	C	A	34528968	4	1	416	1	0	0	0	0	0	1	0	0	14387	864	30	5	485	5	SLC12A6	15	34528968	Nonsense_Mutation	SNP	C	TCGA-VP-A87D-01A-11D-A34U-08		34528968	68002424	43	20187											
PTPLAD1	51495	broad.mit.edu	37	chr15	65868658	65868658	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	caggtttatacataaattttCgtcacctttataaacagcgc	13	14	5	9	2	1	0	1	0	0	0	2	0	1	0	1	1	3	1	1	1	7	9			TCGA-VP-A87D-01A-11D-A34U-08	TCGA-VP-A87D-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a582e00-aad2-4360-868a-9ab8fa301eaa	4ca66d58-c6b9-4c71-b209-aa0a52690c09	g.chr15:65868658C>T	ENST00000261875.5	+	11	1196	c.1030C>T	c.(1030-1032)Cgt>Tgt	p.R344C	PTPLAD1_ENST00000569894.1_Missense_Mutation_p.R227C|PTPLAD1_ENST00000562901.1_Missense_Mutation_p.R227C|PTPLAD1_ENST00000561763.1_3'UTR|PTPLAD1_ENST00000568793.1_Missense_Mutation_p.R319C|PTPLAD1_ENST00000565299.1_Missense_Mutation_p.R382C|PTPLAD1_ENST00000566511.1_Missense_Mutation_p.R227C|PTPLAD1_ENST00000566074.1_Missense_Mutation_p.R227C|PTPLAD1_ENST00000442729.2_Missense_Mutation_p.R289C	NM_016395.2	NP_057479.2	Q9P035	HACD3_HUMAN	protein tyrosine phosphatase-like A domain containing 1	344					activation of JUN kinase activity (GO:0007257)|fatty acid biosynthetic process (GO:0006633)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|positive regulation of GTPase activity (GO:0043547)|Rac protein signal transduction (GO:0016601)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	endoplasmic reticulum (GO:0005783)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)	GTPase activator activity (GO:0005096)|lyase activity (GO:0016829)			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)|pancreas(1)	5						CATAAATTTTCGTCACCTTTA	0.358																																						ENST00000261875.5																			0				NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)|pancreas(1)	5						c.(1030-1032)Cgt>Tgt		protein tyrosine phosphatase-like A domain containing 1							52	46	47					15																	65868658		1798	4064	5862	SO:0001583	missense	51495				activation of JUN kinase activity|fatty acid biosynthetic process|I-kappaB kinase/NF-kappaB cascade|Rac protein signal transduction	endoplasmic reticulum membrane|integral to membrane	GTPase activator activity|lyase activity|protein binding	g.chr15:65868658C>T		CCDS45282.1	15q22.2	2005-11-11				ENSG00000074696			24175	protein-coding gene	gene with protein product		615940				10747961, 11042152	Standard	NM_016395		Approved	B-ind1, HSPC121	uc002apc.3	Q9P035		ENST00000261875.5:c.1030C>T	15.37:g.65868658C>T	ENSP00000261875:p.Arg344Cys					PTPLAD1_ENST00000568793.1_Missense_Mutation_p.R319C|PTPLAD1_ENST00000561763.1_3'UTR|PTPLAD1_ENST00000562901.1_Missense_Mutation_p.R227C|PTPLAD1_ENST00000566511.1_Missense_Mutation_p.R227C|PTPLAD1_ENST00000442729.2_Missense_Mutation_p.R289C|PTPLAD1_ENST00000566074.1_Missense_Mutation_p.R227C|PTPLAD1_ENST00000569894.1_Missense_Mutation_p.R227C|PTPLAD1_ENST00000565299.1_Missense_Mutation_p.R382C	p.R344C	NM_016395.2	NP_057479.2	Q9P035	HACD3_HUMAN			11	1196	+			344					A0PJA1|B4DRF4|Q280Z3|Q6PD63|Q8IUI5|Q8NC86|Q8NCB1|Q96T12|Q9NQA7	Missense_Mutation	SNP	ENST00000261875.5	37	c.1030C>T	CCDS45282.1	.	.	.	.	.	.	.	.	.	.	C	27.9	4.876999	0.91664	.	.	ENSG00000074696	ENST00000442729;ENST00000261875	T;T	0.31247	1.5;1.5	5.34	5.34	0.76211	.	0.050642	0.85682	D	0.000000	T	0.58595	0.2133	M	0.77616	2.38	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.81914	0.995;0.98	T	0.54234	-0.8324	10	0.39692	T	0.17	-10.1934	19.5946	0.95530	0.0:1.0:0.0:0.0	.	289;344	B4DRF4;Q9P035	.;HACD3_HUMAN	C	289;344	ENSP00000392491:R289C;ENSP00000261875:R344C	ENSP00000261875:R344C	R	+	1	0	PTPLAD1	63655711	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	4.015000	0.57152	2.937000	0.99478	0.650000	0.86243	CGT		0.358	PTPLAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419739.1	NM_016395		4	12	0	0	0	1	0	4	12					T	65868658	C	T	65868658	3	4	416	1	0	0	0	0	1	0	0	0	12775	884	31	2	1072	2	PTPLAD1	15	65868658	Missense_Mutation	SNP	C	TCGA-VP-A87D-01A-11D-A34U-08	31339690	65868658	36662734	44	20188											
BNC1	646	broad.mit.edu	37	chr15	83935780	83935780	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttggactggacaatctccacCtggcttgttggatacatggg	8	12	12	9	0	1	0	0	0	1	0	2	3	1	3	2	5	1	2	2	5	2	4			TCGA-VP-A87D-01A-11D-A34U-08	TCGA-VP-A87D-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a582e00-aad2-4360-868a-9ab8fa301eaa	4ca66d58-c6b9-4c71-b209-aa0a52690c09	g.chr15:83935780C>T	ENST00000345382.2	-	3	328	c.243G>A	c.(241-243)caG>caA	p.Q81Q	RP11-382A20.4_ENST00000565495.1_RNA|BNC1_ENST00000569704.1_Silent_p.Q74Q	NM_001717.3	NP_001708.3	Q01954	BNC1_HUMAN	basonuclin 1	81					chromosome organization (GO:0051276)|epidermis development (GO:0008544)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|regulation of transcription from RNA polymerase I promoter (GO:0006356)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	56						CAATCTCCACCTGGCTTGTTG	0.443																																						ENST00000345382.2																			0				NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	56						c.(241-243)caG>caA		basonuclin 1							64	62	63					15																	83935780		2203	4300	6503	SO:0001819	synonymous_variant	646				epidermis development|positive regulation of cell proliferation	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr15:83935780C>T	L03427	CCDS10324.1, CCDS73771.1	15q25.1	2013-05-20	2004-04-30	2004-05-04	ENSG00000169594	ENSG00000169594		"Zinc fingers, C2H2-type"	1081	protein-coding gene	gene with protein product		601930	"basonuclin"	BNC		1332044	Standard	NM_001717		Approved	HsT19447	uc002bjt.1	Q01954	OTTHUMG00000147362	ENST00000345382.2:c.243G>A	15.37:g.83935780C>T						BNC1_ENST00000569704.1_Silent_p.Q74Q|RP11-382A20.4_ENST00000565495.1_RNA	p.Q81Q	NM_001717.3	NP_001708.3	Q01954	BNC1_HUMAN			3	328	-			81					Q15840	Silent	SNP	ENST00000345382.2	37	c.243G>A	CCDS10324.1																																																																																				0.443	BNC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000304006.1	NM_001717		5	41	0	0	0	1	0	5	41					T	83935780	C	T	83935780	2	4	416	1	0	0	0	0	0	0	0	1	1474	680	24	3		3	BNC1	15	83935780	Silent	SNP	C	TCGA-VP-A87D-01A-11D-A34U-08	18067122	83935780	18595612	45	20189											
NUPR1	26471	broad.mit.edu	37	chr16	28549403	28549403	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttggtcaccagtttcctctcGtgcccgccagggctggggcg	3	10	14	14	3	2	0	1	0	1	0	4	0	3	0	4	4	1	2	4	4	0	2			TCGA-VP-A87D-01A-11D-A34U-08	TCGA-VP-A87D-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a582e00-aad2-4360-868a-9ab8fa301eaa	4ca66d58-c6b9-4c71-b209-aa0a52690c09	g.chr16:28549403G>A	ENST00000324873.6	-	2	452	c.186C>T	c.(184-186)caC>caT	p.H62H	NUPR1_ENST00000395641.2_Silent_p.H80H	NM_001042483.1|NM_012385.2	NP_001035948.1|NP_036517.1	O60356	NUPR1_HUMAN	nuclear protein, transcriptional regulator, 1	62					acute inflammatory response (GO:0002526)|cell growth (GO:0016049)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|male gonad development (GO:0008584)|negative regulation of cell cycle (GO:0045786)|negative regulation of fibroblast proliferation (GO:0048147)|positive regulation of apoptotic process (GO:0043065)|positive regulation of protein modification process (GO:0031401)|protein acetylation (GO:0006473)|protein complex assembly (GO:0006461)|regulation of female gonad development (GO:2000194)|regulation of transcription, DNA-templated (GO:0006355)|response to toxic substance (GO:0009636)|skeletal muscle cell differentiation (GO:0035914)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			breast(1)|large_intestine(1)|lung(1)	3						GTTTCCTCTCGTGCCCGCCAG	0.622																																						ENST00000324873.6																			0				breast(1)|large_intestine(1)|lung(1)	3						c.(184-186)caC>caT		nuclear protein, transcriptional regulator, 1							123	139	134					16																	28549403		2197	4300	6497	SO:0001819	synonymous_variant	26471				cell growth|induction of apoptosis	nucleus		g.chr16:28549403G>A	AF069073	CCDS10634.1, CCDS42137.1	16p11.2	2012-07-04	2012-07-04		ENSG00000176046	ENSG00000176046			29990	protein-coding gene	gene with protein product	"candidate of metastasis 1"	614812				9405444, 10493524, 10092851	Standard	NM_012385		Approved	COM1, p8	uc002dqd.1	O60356	OTTHUMG00000131764	ENST00000324873.6:c.186C>T	16.37:g.28549403G>A						NUPR1_ENST00000395641.2_Silent_p.H80H	p.H62H	NM_001042483.1|NM_012385.2	NP_001035948.1|NP_036517.1	O60356	NUPR1_HUMAN			2	452	-			62					B2R5C4|O60357|Q6FGG3	Silent	SNP	ENST00000324873.6	37	c.186C>T	CCDS10634.1																																																																																				0.622	NUPR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254692.2	NM_012385		49	73	0	0	0	1	0	49	73					A	28549403	G	A	28549403	2	1	416	1	0	0	0	0	0	0	0	1	10776	1136	40	1		1	NUPR1	16	28549403	Silent	SNP	G	TCGA-VP-A87D-01A-11D-A34U-08		28549403	61805350	46	20190											
AARS	16	broad.mit.edu	37	chr16	70305754	70305754	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtcctggttgacaagatgtgCggcgtcccgaccaccaatcc	8	8	11	14	3	0	2	0	1	0	1	3	3	3	2	5	2	1	1	5	2	2	1			TCGA-VP-A87D-01A-11D-A34U-08	TCGA-VP-A87D-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a582e00-aad2-4360-868a-9ab8fa301eaa	4ca66d58-c6b9-4c71-b209-aa0a52690c09	g.chr16:70305754C>T	ENST00000261772.8	-	5	744	c.601G>A	c.(601-603)Gca>Aca	p.A201T		NM_001605.2	NP_001596.2			alanyl-tRNA synthetase											breast(3)|cervix(2)|endometrium(5)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(1)	27		Ovarian(137;0.0365)		BRCA - Breast invasive adenocarcinoma(221;0.161)		ACAAGATGTGCGGCGTCCCGA	0.542																																						ENST00000261772.8																			0				breast(3)|cervix(2)|endometrium(5)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(1)	27						c.(601-603)Gca>Aca		alanyl-tRNA synthetase	L-Alanine(DB00160)						109	100	103					16																	70305754		2198	4300	6498	SO:0001583	missense	16				alanyl-tRNA aminoacylation|tRNA processing	cytosol|soluble fraction	alanine-tRNA ligase activity|ATP binding|metal ion binding|tRNA binding	g.chr16:70305754C>T	D32050	CCDS32474.1	16q22.1	2014-09-17			ENSG00000090861	ENSG00000090861	6.1.1.7	"Aminoacyl tRNA synthetases / Class II"	20	protein-coding gene	gene with protein product	"alanine tRNA ligase 1, cytoplasmic"	601065				8595897	Standard	NM_001605		Approved		uc002eyn.1	P49588	OTTHUMG00000177042	ENST00000261772.8:c.601G>A	16.37:g.70305754C>T	ENSP00000261772:p.Ala201Thr						p.A201T	NM_001605.2	NP_001596.2	P49588	SYAC_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.161)	5	744	-		Ovarian(137;0.0365)	201						Missense_Mutation	SNP	ENST00000261772.8	37	c.601G>A	CCDS32474.1	.	.	.	.	.	.	.	.	.	.	C	18.15	3.559735	0.65538	.	.	ENSG00000090861	ENST00000261772	T	0.72167	-0.63	5.92	5.92	0.95590	Alanyl-tRNA synthetase, class IIc, core domain (1);Alanyl-tRNA synthetase, class IIc, N-terminal (1);	0.208972	0.49305	N	0.000142	T	0.72748	0.3499	M	0.70595	2.14	0.53005	D	0.999967	P;P	0.38250	0.624;0.47	B;B	0.39152	0.292;0.2	T	0.72381	-0.4311	10	0.39692	T	0.17	-7.8943	17.8019	0.88590	0.0:1.0:0.0:0.0	.	209;201	E7ETK8;P49588	.;SYAC_HUMAN	T	201	ENSP00000261772:A201T	ENSP00000261772:A201T	A	-	1	0	AARS	68863255	0.187000	0.23238	0.931000	0.37212	0.630000	0.37929	0.806000	0.27126	2.795000	0.96236	0.655000	0.94253	GCA		0.542	AARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435021.2	NM_001605		4	68	0	0	0	1	0	4	68					T	70305754	C	T	70305754	3	4	416	1	0	0	0	0	1	0	0	0	19	768	27	1	2373	1	AARS	16	70305754	Missense_Mutation	SNP	C	TCGA-VP-A87D-01A-11D-A34U-08	41756351	70305754	20048999	47	20191											
ADAD2	161931	broad.mit.edu	37	chr16	84229837	84229837	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacctccctacgtccggaccGccctgcacctgtttgcaggg	5	8	10	18	3	0	0	0	0	0	0	2	1	2	1	6	2	3	3	6	2	1	2			TCGA-VP-A87D-01A-11D-A34U-08	TCGA-VP-A87D-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a582e00-aad2-4360-868a-9ab8fa301eaa	4ca66d58-c6b9-4c71-b209-aa0a52690c09	g.chr16:84229837G>A	ENST00000315906.5	+	8	1439	c.1387G>A	c.(1387-1389)Gcc>Acc	p.A463T	RP11-486L19.2_ENST00000561900.1_RNA|RP11-486L19.2_ENST00000536986.1_RNA|RP11-486L19.2_ENST00000565643.1_RNA|RP11-486L19.2_ENST00000569834.1_RNA|ADAD2_ENST00000268624.3_Missense_Mutation_p.A545T	NM_001145400.1	NP_001138872.1	Q8NCV1	ADAD2_HUMAN	adenosine deaminase domain containing 2	463	A to I editase. {ECO:0000255|PROSITE- ProRule:PRU00240}.				RNA processing (GO:0006396)		adenosine deaminase activity (GO:0004000)|RNA binding (GO:0003723)	p.A545T(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)|skin(1)	13						CGTCCGGACCGCCCTGCACCT	0.697																																						ENST00000268624.3																			1	Substitution - Missense(1)	p.A545T(1)	prostate(1)	NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)|skin(1)	13						c.(1633-1635)Gcc>Acc		adenosine deaminase domain containing 2							52	59	57					16																	84229837		2200	4299	6499	SO:0001583	missense	161931				RNA processing	intracellular	adenosine deaminase activity|double-stranded RNA binding	g.chr16:84229837G>A	AF447586	CCDS10944.1, CCDS45536.1	16q24.1	2007-05-31			ENSG00000140955	ENSG00000140955			30714	protein-coding gene	gene with protein product							Standard	NM_139174		Approved	TENRL, FLJ00337	uc002fhr.2	Q8NCV1	OTTHUMG00000137637	ENST00000315906.5:c.1387G>A	16.37:g.84229837G>A	ENSP00000325153:p.Ala463Thr					RP11-486L19.2_ENST00000536986.1_RNA|ADAD2_ENST00000315906.5_Missense_Mutation_p.A463T|RP11-486L19.2_ENST00000569834.1_RNA|RP11-486L19.2_ENST00000565643.1_RNA	p.A545T	NM_139174.3	NP_631913.3	Q8NCV1	ADAD2_HUMAN			9	1726	+			463			A to I editase.		B2RCL6|Q8NA94	Missense_Mutation	SNP	ENST00000315906.5	37	c.1633G>A	CCDS45536.1	.	.	.	.	.	.	.	.	.	.	G	0.007	-1.995702	0.00435	.	.	ENSG00000140955	ENST00000315906;ENST00000268624	D;D	0.93189	-3.18;-3.18	5.02	2.35	0.29111	Adenosine deaminase/editase (2);	0.705056	0.14154	N	0.337807	T	0.74786	0.3762	N	0.00885	-1.115	0.09310	N	1	B;B	0.14805	0.001;0.011	B;B	0.04013	0.001;0.001	T	0.66567	-0.5891	10	0.15499	T	0.54	-12.9939	4.6917	0.12785	0.6436:0.2496:0.1067:0.0	.	463;545	Q8NCV1;Q8NCV1-2	ADAD2_HUMAN;.	T	463;545	ENSP00000325153:A463T;ENSP00000268624:A545T	ENSP00000268624:A545T	A	+	1	0	ADAD2	82787338	0.001000	0.12720	0.009000	0.14445	0.072000	0.16883	1.099000	0.31013	0.854000	0.35336	-0.459000	0.05422	GCC		0.697	ADAD2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433385.1	NM_139174		11	66	0	0	0	1	0	11	66					A	84229837	G	A	84229837	3	1	416	1	0	0	0	0	1	0	0	0	232	1087	38	1	1667	1	ADAD2	16	84229837	Missense_Mutation	SNP	G	TCGA-VP-A87D-01A-11D-A34U-08	13924083	84229837	6124916	48	20192											
TP53	7157	broad.mit.edu	37	chr17	7579408	7579430	+	Frame_Shift_Del	DEL	CAGGGGCCAGGAGGGGGCTGGTG	CAGGGGCCAGGAGGGGGCTGGTG	-																															tgggaagggacagaagatgaCaggggccaggagggggctgg																								rs587783062		TCGA-VP-A87D-01A-11D-A34U-08	TCGA-VP-A87D-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a582e00-aad2-4360-868a-9ab8fa301eaa	4ca66d58-c6b9-4c71-b209-aa0a52690c09	g.chr17:7579408_7579430delCAGGGGCCAGGAGGGGGCTGGTG	ENST00000269305.4	-	4	446_468	c.257_279delCACCAGCCCCCTCCTGGCCCCTG	c.(256-279)gcaccagccccctcctggcccctgfs	p.APAPSWPL86fs	TP53_ENST00000420246.2_Frame_Shift_Del_p.APAPSWPL86fs|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000445888.2_Frame_Shift_Del_p.APAPSWPL86fs|TP53_ENST00000455263.2_Frame_Shift_Del_p.APAPSWPL86fs|TP53_ENST00000359597.4_Frame_Shift_Del_p.APAPSWPL86fs|TP53_ENST00000413465.2_Frame_Shift_Del_p.APAPSWPL86fs	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	86	Interaction with WWOX.		A -> V (in a sporadic cancer; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.W91*(20)|p.0?(8)|p.S90fs*59(6)|p.L93fs*30(5)|p.S90fs*33(4)|p.A88fs*32(3)|p.A76_S90del15(3)|p.P87Q(3)|p.G59fs*23(3)|p.P89S(3)|p.A88fs*35(2)|p.P85fs*59(1)|p.P85fs*58(1)|p.W91fs*57(1)|p.A86V(1)|p.W91fs*13(1)|p.A88fs*52(1)|p.V73fs*9(1)|p.D48fs*55(1)|p.L93M(1)|p.A79_A88del10(1)|p.P87fs*54(1)|p.P87P(1)|p.A86fs*59(1)|p.P89L(1)|p.P92fs*57(1)|p.A86fs*34(1)|p.S94fs*54(1)|p.S33fs*23(1)|p.A86fs*33(1)|p.A86fs*32(1)|p.P13fs*18(1)|p.P89fs*60(1)|p.S90F(1)|p.P92A(1)|p.A83fs*35(1)|p.P92L(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	CAGAAGATGACAGGGGCCAGGAGGGGGCTGGTGCAGGGGCCGC	0.619		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"Mis, N, F"	tumor protein p53			"L, E, M, O"		"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"	"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"		86	Deletion - Frameshift(33)|Substitution - Nonsense(20)|Substitution - Missense(12)|Insertion - Frameshift(8)|Whole gene deletion(8)|Deletion - In frame(4)|Substitution - coding silent(1)	p.W91*(20)|p.0?(8)|p.S90fs*59(6)|p.L93fs*30(5)|p.S90fs*33(4)|p.A88fs*32(3)|p.A76_S90del15(3)|p.P87Q(3)|p.G59fs*23(3)|p.P89S(3)|p.A88fs*35(2)|p.P85fs*59(1)|p.P85fs*58(1)|p.W91fs*57(1)|p.A86V(1)|p.W91fs*13(1)|p.A88fs*52(1)|p.V73fs*9(1)|p.D48fs*55(1)|p.L93M(1)|p.A79_A88del10(1)|p.P87fs*54(1)|p.P87P(1)|p.A86fs*59(1)|p.P89L(1)|p.P92fs*57(1)|p.A86fs*34(1)|p.S94fs*54(1)|p.S33fs*23(1)|p.A86fs*33(1)|p.A86fs*32(1)|p.P13fs*18(1)|p.P89fs*60(1)|p.S90F(1)|p.P92A(1)|p.A83fs*35(1)|p.P92L(1)	lung(17)|upper_aerodigestive_tract(12)|urinary_tract(10)|breast(9)|liver(7)|haematopoietic_and_lymphoid_tissue(6)|central_nervous_system(4)|ovary(4)|prostate(4)|bone(4)|skin(3)|large_intestine(2)|stomach(1)|soft_tissue(1)|endometrium(1)|oesophagus(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185	GRCh37	CM065495	TP53	M		c.(256-279)gfs	Other conserved DNA damage response genes	tumor protein p53																																				SO:0001589	frameshift_variant	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7579408_7579430delCAGGGGCCAGGAGGGGGCTGGTG	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"Li-Fraumeni syndrome"	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.257_279delCACCAGCCCCCTCCTGGCCCCTG	17.37:g.7579408_7579430delCAGGGGCCAGGAGGGGGCTGGTG	ENSP00000269305:p.Ala86fs	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_ENST00000445888.2_Frame_Shift_Del_p.APAPSWPL86fs|TP53_ENST00000269305.4_Frame_Shift_Del_p.APAPSWPL86fs|TP53_ENST00000359597.4_Frame_Shift_Del_p.APAPSWPL86fs|TP53_ENST00000413465.2_Frame_Shift_Del_p.APAPSWPL86fs|TP53_ENST00000455263.2_Frame_Shift_Del_p.APAPSWPL86fs	p.APAPSWPL86fs	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	4	389_411	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	86		A -> V (in a sporadic cancer; somatic mutation).	Interaction with WWOX.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Frame_Shift_Del	DEL	ENST00000269305.4	37	c.257_279delCACCAGCCCCCTCCTGGCCCCTG	CCDS11118.1																																																																																				0.619	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		13	45						13	45	---	---	---	---	-	7579430	CAGGGGCCAGGAGGGGGCTGGTG	-	7579408	7	5	416	1	0	1	0	1	0	0	0	0	16378	465	17	0	1023	0	TP53	17	7579408	Frame_Shift_Del	DEL	CAGGGGCCAGGAGGGGGCTGGTG	TCGA-VP-A87D-01A-11D-A34U-08		7579408	73615802	49	20193											
TMEM199	147007	broad.mit.edu	37	chr17	26687568	26687568	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ccaggatacaagacatggtgGgactctcagcgacctgggaa	12	6	13	10	1	1	1	1	0	1	1	2	5	1	4	2	4	2	0	2	4	3	1			TCGA-VP-A87D-01A-11D-A34U-08	TCGA-VP-A87D-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a582e00-aad2-4360-868a-9ab8fa301eaa	4ca66d58-c6b9-4c71-b209-aa0a52690c09	g.chr17:26687568G>A	ENST00000292114.3	+	4	482	c.392G>A	c.(391-393)gGg>gAg	p.G131E	TMEM199_ENST00000395404.3_5'UTR|CTB-96E2.3_ENST00000591482.1_RNA|MIR4723_ENST00000585070.1_RNA|TMEM199_ENST00000509083.1_Missense_Mutation_p.G131E|CTB-96E2.7_ENST00000577850.1_RNA	NM_152464.1	NP_689677.1	Q8N511	TM199_HUMAN	transmembrane protein 199	131						integral component of membrane (GO:0016021)				endometrium(1)|kidney(2)|large_intestine(1)|lung(2)	6	all_lung(13;0.000354)|Lung NSC(42;0.00115)			UCEC - Uterine corpus endometrioid carcinoma (53;0.153)		AGACATGGTGGGACTCTCAGC	0.468																																						ENST00000292114.3																			0				endometrium(1)|kidney(2)|large_intestine(1)|lung(2)	6						c.(391-393)gGg>gAg		transmembrane protein 199							109	99	103					17																	26687568		2203	4300	6503	SO:0001583	missense	147007					integral to membrane		g.chr17:26687568G>A	AY074907	CCDS11228.1	17q11.2	2007-12-17	2007-12-17	2007-12-17	ENSG00000244045	ENSG00000244045			18085	protein-coding gene	gene with protein product			"chromosome 17 open reading frame 32"	C17orf32			Standard	NM_152464		Approved	MGC45714	uc002hba.3	Q8N511	OTTHUMG00000132498	ENST00000292114.3:c.392G>A	17.37:g.26687568G>A	ENSP00000292114:p.Gly131Glu					CTB-96E2.3_ENST00000591482.1_RNA|TMEM199_ENST00000395404.3_5'UTR|TMEM199_ENST00000509083.1_Missense_Mutation_p.G131E	p.G131E	NM_152464.1	NP_689677.1	Q8N511	TM199_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (53;0.153)	4	482	+	all_lung(13;0.000354)|Lung NSC(42;0.00115)		131						Missense_Mutation	SNP	ENST00000292114.3	37	c.392G>A	CCDS11228.1	.	.	.	.	.	.	.	.	.	.	G	15.67	2.901999	0.52227	.	.	ENSG00000244045	ENST00000292114;ENST00000509083;ENST00000395404	T;T	0.27402	1.67;1.67	5.85	2.71	0.32032	.	0.089556	0.85682	N	0.000000	T	0.32102	0.0818	L	0.38838	1.175	0.58432	D	0.999993	D;P	0.57899	0.981;0.751	P;B	0.58077	0.832;0.327	T	0.09271	-1.0682	10	0.09843	T	0.71	-6.543	9.1618	0.37028	0.075:0.2767:0.6483:0.0	.	131;131	E9PBQ3;Q8N511	.;TM199_HUMAN	E	131;131;49	ENSP00000292114:G131E;ENSP00000427614:G131E	ENSP00000292114:G131E	G	+	2	0	TMEM199	23711695	1.000000	0.71417	0.958000	0.39756	0.529000	0.34654	2.656000	0.46716	0.353000	0.24079	-0.140000	0.14226	GGG		0.468	TMEM199-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255676.2	NM_152464		7	26	0	0	0	1	0	7	26					A	26687568	G	A	26687568	3	1	416	1	0	0	0	0	1	0	0	0	16117	1232	43	3	406	3	TMEM199	17	26687568	Missense_Mutation	SNP	G	TCGA-VP-A87D-01A-11D-A34U-08	19108160	26687568	54507642	50	20194											
CPD	1362	broad.mit.edu	37	chr17	28748781	28748781	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtattaatcataatatcacaAcaggcagatttggtgatttc	14	14	7	6	0	2	2	2	1	0	1	3	2	2	2	0	2	1	2	0	2	5	6			TCGA-VP-A87D-01A-11D-A34U-08	TCGA-VP-A87D-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a582e00-aad2-4360-868a-9ab8fa301eaa	4ca66d58-c6b9-4c71-b209-aa0a52690c09	g.chr17:28748781A>C	ENST00000225719.4	+	4	1313	c.1237A>C	c.(1237-1239)Aca>Cca	p.T413P	CPD_ENST00000543464.2_Missense_Mutation_p.T166P	NM_001304.4	NP_001295.2	O75976	CBPD_HUMAN	carboxypeptidase D	413	Carboxypeptidase-like 1.					extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	metallocarboxypeptidase activity (GO:0004181)|serine-type carboxypeptidase activity (GO:0004185)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(13)|skin(5)|stomach(1)|urinary_tract(1)	36						TAATATCACAACAGGCAGATT	0.368																																						ENST00000225719.4																			0				central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(13)|skin(5)|stomach(1)|urinary_tract(1)	36						c.(1237-1239)Aca>Cca		carboxypeptidase D							148	143	145					17																	28748781		2203	4300	6503	SO:0001583	missense	1362				proteolysis	integral to membrane	metallocarboxypeptidase activity|serine-type carboxypeptidase activity|zinc ion binding	g.chr17:28748781A>C	U65090	CCDS11257.1, CCDS56025.1	17q11.2	2012-02-10			ENSG00000108582	ENSG00000108582	3.4.17.22		2301	protein-coding gene	gene with protein product	"metallocarboxypeptidase D"	603102				9628828, 9355738	Standard	NM_001304		Approved	GP180	uc002hfb.2	O75976	OTTHUMG00000132797	ENST00000225719.4:c.1237A>C	17.37:g.28748781A>C	ENSP00000225719:p.Thr413Pro					CPD_ENST00000543464.2_Missense_Mutation_p.T166P	p.T413P	NM_001304.4	NP_001295.2	O75976	CBPD_HUMAN			4	1313	+			413			Carboxypeptidase-like 1.		B7Z7T9|B7ZAU4|F5GZH6|O15377|Q86SH9|Q86XE6	Missense_Mutation	SNP	ENST00000225719.4	37	c.1237A>C	CCDS11257.1	.	.	.	.	.	.	.	.	.	.	A	21.8	4.205604	0.79127	.	.	ENSG00000108582	ENST00000225719;ENST00000543464	T;T	0.37584	1.19;1.19	6.07	6.07	0.98685	Peptidase M14, carboxypeptidase A (1);Carboxypeptidase-like, regulatory domain (1);Carboxypeptidase, regulatory domain (1);	0.248758	0.40908	D	0.000984	T	0.68751	0.3035	H	0.96489	3.83	0.52501	D	0.999955	D;D	0.64830	0.986;0.994	D;D	0.67231	0.914;0.95	T	0.77765	-0.2465	10	0.87932	D	0	.	10.0478	0.42197	0.9186:0.0:0.0814:0.0	.	166;413	F5GZH6;O75976	.;CBPD_HUMAN	P	413;166	ENSP00000225719:T413P;ENSP00000444443:T166P	ENSP00000225719:T413P	T	+	1	0	CPD	25772907	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.982000	0.76173	2.326000	0.78906	0.533000	0.62120	ACA		0.368	CPD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256214.3	NM_001304		41	63	0	0	0	1	0	41	63					C	28748781	A	C	28748781	3	2	416	1	0	0	0	0	1	0	0	0	3798	43	2	5	1251	5	CPD	17	28748781	Missense_Mutation	SNP	A	TCGA-VP-A87D-01A-11D-A34U-08	2061213	28748781	52446429	51	20195											
MYO1D	4642	broad.mit.edu	37	chr17	31099824	31099824	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aacctgatagaaagaatgaaAgcttctttctcctggctgtt	12	13	8	8	0	2	4	0	2	2	2	3	4	2	4	2	1	2	3	2	1	5	4			TCGA-VP-A87D-01A-11D-A34U-08	TCGA-VP-A87D-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a582e00-aad2-4360-868a-9ab8fa301eaa	4ca66d58-c6b9-4c71-b209-aa0a52690c09	g.chr17:31099824A>C	ENST00000318217.5	-	5	905	c.601T>G	c.(601-603)Ttt>Gtt	p.F201V	MYO1D_ENST00000579584.1_Missense_Mutation_p.F201V|MYO1D_ENST00000394649.4_Missense_Mutation_p.F113V|MYO1D_ENST00000583621.1_Missense_Mutation_p.F201V	NM_015194.1	NP_056009.1	O94832	MYO1D_HUMAN	myosin ID	201	Myosin motor.				early endosome to recycling endosome transport (GO:0061502)|negative regulation of phosphatase activity (GO:0010923)	axolemma (GO:0030673)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|smooth endoplasmic reticulum (GO:0005790)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(14)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39			BRCA - Breast invasive adenocarcinoma(9;0.0362)			AAAGAATGAAAGCTTCTTTCT	0.393																																						ENST00000318217.5																			0				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(14)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						c.(601-603)Ttt>Gtt		myosin ID							141	148	146					17																	31099824		2203	4300	6503	SO:0001583	missense	4642					myosin complex	actin binding|ATP binding|calmodulin binding	g.chr17:31099824A>C	AB018270	CCDS32615.1	17q11-q12	2014-06-12				ENSG00000176658		"Myosins / Myosin superfamily : Class I"	7598	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 108"	606539				8884266	Standard	NM_015194		Approved	KIAA0727, myr4, PPP1R108	uc002hho.1	O94832		ENST00000318217.5:c.601T>G	17.37:g.31099824A>C	ENSP00000324527:p.Phe201Val					MYO1D_ENST00000583621.1_Missense_Mutation_p.F201V|MYO1D_ENST00000394649.4_Missense_Mutation_p.F113V|MYO1D_ENST00000579584.1_Missense_Mutation_p.F201V	p.F201V	NM_015194.1	NP_056009.1	O94832	MYO1D_HUMAN	BRCA - Breast invasive adenocarcinoma(9;0.0362)		5	905	-			201			Myosin head-like.		A6H8V3|Q8NHP9	Missense_Mutation	SNP	ENST00000318217.5	37	c.601T>G	CCDS32615.1	.	.	.	.	.	.	.	.	.	.	A	22.3	4.277857	0.80692	.	.	ENSG00000176658	ENST00000318217	T	0.79141	-1.24	5.49	5.49	0.81192	Myosin head, motor domain (2);	0.000000	0.40818	U	0.001012	D	0.88213	0.6376	H	0.97659	4.05	0.80722	D	1	P;P	0.44260	0.83;0.83	P;P	0.46940	0.532;0.532	D	0.91613	0.5304	10	0.87932	D	0	.	13.5371	0.61652	1.0:0.0:0.0:0.0	.	112;201	Q7Z3N6;O94832	.;MYO1D_HUMAN	V	201	ENSP00000324527:F201V	ENSP00000324527:F201V	F	-	1	0	MYO1D	28123937	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	8.461000	0.90372	2.070000	0.61991	0.528000	0.53228	TTT		0.393	MYO1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447457.1			5	207	0	0	0	1	0	5	207					C	31099824	A	C	31099824	3	2	416	1	0	0	0	0	1	0	0	0	10071	72	3	5	2491	5	MYO1D	17	31099824	Missense_Mutation	SNP	A	TCGA-VP-A87D-01A-11D-A34U-08	2351043	31099824	50095386	52	20196											
KIAA0802	23255	broad.mit.edu	37	chr18	8793060	8793060	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagctacagggtcagctcgTgcaggcggccagactgcatc	8	6	15	12	2	1	1	1	0	0	1	3	2	1	2	1	4	5	4	1	4	1	1			TCGA-VP-A87D-01A-11D-A34U-08	TCGA-VP-A87D-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a582e00-aad2-4360-868a-9ab8fa301eaa	4ca66d58-c6b9-4c71-b209-aa0a52690c09	g.chr18:8793060T>A	ENST00000359865.3	+	8	2094	c.1952T>A	c.(1951-1953)gTg>gAg	p.V651E	SOGA2_ENST00000306285.7_5'UTR|SOGA2_ENST00000400050.3_Intron|SOGA2_ENST00000518815.1_Intron|SOGA2_ENST00000517570.1_Intron|SOGA2_ENST00000306329.11_Intron	NM_015210.3	NP_056025.2																					GGTCAGCTCGTGCAGGCGGCC	0.498																																						ENST00000359865.3																			0											c.(1951-1953)gTg>gAg		SOGA family member 2							100	111	107					18																	8793060		2203	4300	6503	SO:0001583	missense	23255							g.chr18:8793060T>A																												ENST00000359865.3:c.1952T>A	18.37:g.8793060T>A	ENSP00000352927:p.Val651Glu					SOGA2_ENST00000306285.7_5'UTR|SOGA2_ENST00000400050.3_Intron|SOGA2_ENST00000518815.1_Intron|SOGA2_ENST00000306329.11_Intron|SOGA2_ENST00000517570.1_Intron	p.V651E	NM_015210.3	NP_056025.2	Q9Y4B5	CC165_HUMAN			8	2094	+			980						Missense_Mutation	SNP	ENST00000359865.3	37	c.1952T>A	CCDS11841.1	.	.	.	.	.	.	.	.	.	.	T	9.262	1.043461	0.19748	.	.	ENSG00000168502	ENST00000306329;ENST00000359865	T	0.36340	1.26	5.68	-3.26	0.05064	.	1.026340	0.07770	N	0.951654	T	0.11452	0.0279	N	0.03608	-0.345	0.09310	N	0.999996	B	0.02656	0.0	B	0.01281	0.0	T	0.32561	-0.9902	10	0.02654	T	1	.	5.4174	0.16382	0.3864:0.218:0.0:0.3956	.	651	Q9Y4B5-3	.	E	672;651	ENSP00000352927:V651E	ENSP00000305027:V672E	V	+	2	0	CCDC165	8783060	0.020000	0.18652	0.000000	0.03702	0.395000	0.30598	0.420000	0.21263	-0.437000	0.07243	-0.379000	0.06801	GTG		0.498	SOGA2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254476.1			39	83	0	0	0	1	0	39	83					A	8793060	T	A	8793060	3	1	416	1	0	0	0	0	1	0	0	0	8194	1696	59	5	1974	5	KIAA0802	18	8793060	Missense_Mutation	SNP	T	TCGA-VP-A87D-01A-11D-A34U-08		8793060	69284188	53	20197											
HDGFRP2	84717	broad.mit.edu	37	chr19	4491627	4491627	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tcaggccagcgtgtccccatCcgaagaggagaactcggaaa	12	5	12	12	3	1	2	1	0	0	2	4	5	3	3	4	3	2	0	4	3	3	0			TCGA-VP-A87D-01A-11D-A34U-08	TCGA-VP-A87D-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a582e00-aad2-4360-868a-9ab8fa301eaa	4ca66d58-c6b9-4c71-b209-aa0a52690c09	g.chr19:4491627C>T	ENST00000301284.4	+	5	618	c.554C>T	c.(553-555)tCc>tTc	p.S185F	HDGFRP2_ENST00000586684.1_Missense_Mutation_p.S185F	NM_001001520.1|NM_032631.2	NP_001001520|NP_116020.1	Q7Z4V5	HDGR2_HUMAN		185	Ser-rich.				transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)										GTGTCCCCATCCGAAGAGGAG	0.617																																						ENST00000301284.4																			0											c.(553-555)tCc>tTc									54	62	59					19																	4491627		2013	4150	6163	SO:0001583	missense	0				transcription, DNA-dependent	nucleus	DNA binding|protein binding	g.chr19:4491627C>T																												ENST00000301284.4:c.554C>T	19.37:g.4491627C>T	ENSP00000301284:p.Ser185Phe					HDGFRP2_ENST00000586684.1_Missense_Mutation_p.S185F	p.S185F	NM_001001520.1|NM_032631.2	NP_001001520.1|NP_116020.1	Q7Z4V5	HDGR2_HUMAN			5	618	+			185			Ser-rich.		I3L080|K7EQZ6|Q96GI5|Q9BW08	Missense_Mutation	SNP	ENST00000301284.4	37	c.554C>T	CCDS42472.1	.	.	.	.	.	.	.	.	.	.	C	17.13	3.309869	0.60414	.	.	ENSG00000167674	ENST00000301284;ENST00000398364	T	0.52057	0.68	4.82	4.82	0.62117	.	0.000000	0.85682	D	0.000000	T	0.57592	0.2064	M	0.63843	1.955	0.20703	N	0.999861	D;D	0.61697	0.99;0.99	P;P	0.53313	0.723;0.723	T	0.56263	-0.8008	10	0.72032	D	0.01	.	14.6729	0.68958	0.0:1.0:0.0:0.0	.	185;185	C9JEE1;Q7Z4V5	.;HDGR2_HUMAN	F	185;171	ENSP00000301284:S185F	ENSP00000301284:S185F	S	+	2	0	AC011498.1	4442627	0.937000	0.31787	0.039000	0.18376	0.830000	0.47004	4.868000	0.63021	2.219000	0.72066	0.555000	0.69702	TCC		0.617	HDGFRP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000458642.1			9	52	0	0	0	1	0	9	52					T	4491627	C	T	4491627	3	4	416	1	0	0	0	0	1	0	0	0	7020	855	30	3	572	3	HDGFRP2	19	4491627	Missense_Mutation	SNP	C	TCGA-VP-A87D-01A-11D-A34U-08		4491627	54637356	54	20198											
C3	718	broad.mit.edu	37	chr19	6707507	6707507	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgcttctccgtgagctgcaCggaacggcgtcggcgggcgg	4	7	17	13	8	1	1	0	1	1	0	4	2	1	2	1	5	3	3	1	5	1	1	rs534845907		TCGA-VP-A87D-01A-11D-A34U-08	TCGA-VP-A87D-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a582e00-aad2-4360-868a-9ab8fa301eaa	4ca66d58-c6b9-4c71-b209-aa0a52690c09	g.chr19:6707507C>T	ENST00000245907.6	-	16	2109	c.2017G>A	c.(2017-2019)Gtg>Atg	p.V673M		NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3	673					complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|fatty acid metabolic process (GO:0006631)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of activation of membrane attack complex (GO:0001970)|positive regulation of angiogenesis (GO:0045766)|positive regulation of apoptotic cell clearance (GO:2000427)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)|positive regulation of glucose transport (GO:0010828)|positive regulation of lipid storage (GO:0010884)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of type IIa hypersensitivity (GO:0001798)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of complement activation (GO:0030449)|regulation of immune response (GO:0050776)|regulation of triglyceride biosynthetic process (GO:0010866)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	C5L2 anaphylatoxin chemotactic receptor binding (GO:0031715)|endopeptidase inhibitor activity (GO:0004866)|receptor binding (GO:0005102)			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)	Intravenous Immunoglobulin(DB00028)	GTGAGCTGCACGGAACGGCGT	0.662													C|||	1	0.000199681	0	0	5008	,	,		14416	0		0	False		,,,				2504	0.001					ENST00000245907.6																			0				breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72						c.(2017-2019)Gtg>Atg		complement component 3							48	58	55					19																	6707507		2203	4298	6501	SO:0001583	missense	718				complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding	g.chr19:6707507C>T	J04763	CCDS32883.1	19p13.3-p13.2	2014-09-17			ENSG00000125730	ENSG00000125730	3.4.21.43	"Complement system", "Endogenous ligands"	1318	protein-coding gene	gene with protein product	"C3a anaphylatoxin", "complement component C3a", "complement component C3b", "prepro-C3"	120700					Standard	NM_000064		Approved	CPAMD1, ARMD9, C3a, C3b	uc002mfm.3	P01024	OTTHUMG00000150335	ENST00000245907.6:c.2017G>A	19.37:g.6707507C>T	ENSP00000245907:p.Val673Met						p.V673M	NM_000064.2	NP_000055.2	P01024	CO3_HUMAN		GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)	16	2109	-			673					A7E236	Missense_Mutation	SNP	ENST00000245907.6	37	c.2017G>A	CCDS32883.1	.	.	.	.	.	.	.	.	.	.	C	12.93	2.085512	0.36758	.	.	ENSG00000125730	ENST00000245907	T	0.36157	1.27	4.98	3.94	0.45596	.	0.517766	0.20182	N	0.097483	T	0.50480	0.1618	M	0.86178	2.8	0.22975	N	0.998485	P	0.52463	0.953	P	0.50708	0.648	T	0.49031	-0.8981	10	0.54805	T	0.06	.	9.3579	0.38177	0.0:0.8997:0.0:0.1003	.	673	P01024	CO3_HUMAN	M	673	ENSP00000245907:V673M	ENSP00000245907:V673M	V	-	1	0	C3	6658507	0.082000	0.21442	0.758000	0.31321	0.033000	0.12548	0.597000	0.24059	1.099000	0.41499	-0.192000	0.12808	GTG		0.662	C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317636.2	NM_000064		5	64	0	0	0	1	0	5	64					T	6707507	C	T	6707507	3	4	416	1	0	0	0	0	1	0	0	0	2204	536	19	1	3078	1	C3	19	6707507	Missense_Mutation	SNP	C	TCGA-VP-A87D-01A-11D-A34U-08	2215880	6707507	52421476	55	20199											
MAP2K7	5609	broad.mit.edu	37	chr19	7976415	7976415	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ggaagagcccccgcttctgcCcggacacatgggcttctcgg	6	7	13	15	3	2	1	0	0	2	1	3	3	2	3	3	4	2	2	3	4	1	2			TCGA-VP-A87D-01A-11D-A34U-08	TCGA-VP-A87D-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a582e00-aad2-4360-868a-9ab8fa301eaa	4ca66d58-c6b9-4c71-b209-aa0a52690c09	g.chr19:7976415C>T	ENST00000397979.3	+	9	1085	c.1031C>T	c.(1030-1032)cCc>cTc	p.P344L	MAP2K7_ENST00000397983.3_Missense_Mutation_p.P360L|MAP2K7_ENST00000545011.1_Missense_Mutation_p.P386L|CTD-3193O13.13_ENST00000595655.1_RNA|MAP2K7_ENST00000397981.3_Missense_Mutation_p.P351L	NM_145185.2	NP_660186.1	O14733	MP2K7_HUMAN	mitogen-activated protein kinase kinase 7	344	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of JUN kinase activity (GO:0007257)|apoptotic process (GO:0006915)|cellular response to sorbitol (GO:0072709)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|positive regulation of neuron apoptotic process (GO:0043525)|response to heat (GO:0009408)|response to osmotic stress (GO:0006970)|response to tumor necrosis factor (GO:0034612)|response to UV (GO:0009411)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|JUN kinase kinase activity (GO:0008545)|magnesium ion binding (GO:0000287)|MAP kinase kinase activity (GO:0004708)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)			breast(2)|central_nervous_system(3)|endometrium(1)|large_intestine(8)|lung(4)|ovary(1)	19						CCGCTTCTGCCCGGACACATG	0.592																																						ENST00000545011.1																			0				breast(2)|central_nervous_system(3)|endometrium(1)|large_intestine(8)|lung(4)|ovary(1)	19						c.(1156-1158)cCc>cTc		mitogen-activated protein kinase kinase 7	Etoposide(DB00773)						26	29	28					19																	7976415		1871	4091	5962	SO:0001583	missense	5609				activation of JUN kinase activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleus	ATP binding|JUN kinase kinase activity|magnesium ion binding|protein binding|protein kinase binding|protein phosphatase binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr19:7976415C>T	AF006689	CCDS42491.1, CCDS74277.1, CCDS74278.1	19p13.3-p13.2	2011-06-09			ENSG00000076984	ENSG00000076984	2.7.12.2	"Mitogen-activated protein kinase cascade / Kinase kinases"	6847	protein-coding gene	gene with protein product		603014		PRKMK7		9312068	Standard	XM_005272489		Approved	MKK7, Jnkk2	uc002mit.3	O14733	OTTHUMG00000137368	ENST00000397979.3:c.1031C>T	19.37:g.7976415C>T	ENSP00000381066:p.Pro344Leu					MAP2K7_ENST00000397981.3_Missense_Mutation_p.P351L|MAP2K7_ENST00000397979.3_Missense_Mutation_p.P344L|MAP2K7_ENST00000397983.3_Missense_Mutation_p.P360L	p.P386L			O14733	MP2K7_HUMAN			9	1222	+			344					B2R9S5|D6W659|O14648|O14816|O60452|O60453|Q1PG43|Q8IY10	Missense_Mutation	SNP	ENST00000397979.3	37	c.1157C>T	CCDS42491.1	.	.	.	.	.	.	.	.	.	.	C	29.5	5.015574	0.93404	.	.	ENSG00000076984	ENST00000397981;ENST00000397983;ENST00000545011;ENST00000425613;ENST00000397979	T;T;T;T	0.63913	-0.07;-0.07;-0.07;-0.07	4.66	4.66	0.58398	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.77579	0.4151	M	0.78916	2.43	0.80722	D	1	D;D	0.63046	0.982;0.992	D;D	0.63877	0.909;0.919	T	0.80951	-0.1153	10	0.87932	D	0	-6.0476	15.4274	0.75065	0.0:1.0:0.0:0.0	.	351;344	O14733-4;O14733	.;MP2K7_HUMAN	L	351;360;386;360;344	ENSP00000381068:P351L;ENSP00000381070:P360L;ENSP00000443946:P386L;ENSP00000381066:P344L	ENSP00000381066:P344L	P	+	2	0	MAP2K7	7882415	1.000000	0.71417	0.980000	0.43619	0.804000	0.45430	4.586000	0.60984	2.573000	0.86826	0.655000	0.94253	CCC		0.592	MAP2K7-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000267980.1			3	13	0	0	0	1	0	3	13					T	7976415	C	T	7976415	3	4	416	1	0	0	0	0	1	0	0	0	9242	623	22	3	1065	3	MAP2K7	19	7976415	Missense_Mutation	SNP	C	TCGA-VP-A87D-01A-11D-A34U-08	1268908	7976415	51152568	56	20200											
ADAMTS10	81794	broad.mit.edu	37	chr19	8654353	8654353	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caccttgcattcgccactgaCgcaaatgtccaccgtgtctg	8	10	8	15	3	1	1	0	1	1	0	3	1	2	1	4	0	1	2	4	0	1	2			TCGA-VP-A87D-01A-11D-A34U-08	TCGA-VP-A87D-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a582e00-aad2-4360-868a-9ab8fa301eaa	4ca66d58-c6b9-4c71-b209-aa0a52690c09	g.chr19:8654353C>T	ENST00000597188.1	-	17	2287	c.2017G>A	c.(2017-2019)Gtc>Atc	p.V673I	ADAMTS10_ENST00000595838.1_Missense_Mutation_p.V160I|ADAMTS10_ENST00000270328.4_Missense_Mutation_p.V673I	NM_030957.2	NP_112219.3	Q9H324	ATS10_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 10	673	Cys-rich.					extracellular matrix (GO:0031012)|microfibril (GO:0001527)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(16)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(3)|skin(10)|urinary_tract(1)	53						TCGCCACTGACGCAAATGTCC	0.657																																						ENST00000270328.4																			0				NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(16)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(3)|skin(10)|urinary_tract(1)	53						c.(2017-2019)Gtc>Atc		ADAM metallopeptidase with thrombospondin type 1 motif, 10							75	78	77					19																	8654353		2203	4300	6503	SO:0001583	missense	81794				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr19:8654353C>T	AF163762	CCDS12206.1, CCDS62529.1	19p13.2	2014-08-12	2005-08-19		ENSG00000142303	ENSG00000142303		"ADAM metallopeptidases with thrombospondin type 1 motif"	13201	protein-coding gene	gene with protein product		608990	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 10"				Standard	XM_005272499		Approved	ADAM-TS10	uc002mkj.1	Q9H324	OTTHUMG00000182216	ENST00000597188.1:c.2017G>A	19.37:g.8654353C>T	ENSP00000471851:p.Val673Ile					ADAMTS10_ENST00000597188.1_Missense_Mutation_p.V673I|ADAMTS10_ENST00000595838.1_Missense_Mutation_p.V160I	p.V673I			Q9H324	ATS10_HUMAN			16	2283	-			673			Cys-rich.		M0QZE4	Missense_Mutation	SNP	ENST00000597188.1	37	c.2017G>A	CCDS12206.1	.	.	.	.	.	.	.	.	.	.	C	9.129	1.010961	0.19277	.	.	ENSG00000142303	ENST00000270328;ENST00000393912	T	0.61742	0.08	5.03	5.03	0.67393	.	0.000000	0.64402	U	0.000003	T	0.31263	0.0791	N	0.05050	-0.12	0.80722	D	1	B;B;P	0.35959	0.098;0.161;0.53	B;B;B	0.28553	0.014;0.028;0.091	T	0.36625	-0.9740	10	0.06494	T	0.89	.	17.3415	0.87297	0.0:1.0:0.0:0.0	.	427;673;160	Q59FE5;Q9H324;E9PCI6	.;ATS10_HUMAN;.	I	673;427	ENSP00000270328:V673I	ENSP00000270328:V673I	V	-	1	0	ADAMTS10	8560353	1.000000	0.71417	0.995000	0.50966	0.819000	0.46315	4.585000	0.60977	2.314000	0.78098	0.655000	0.94253	GTC		0.657	ADAMTS10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460085.3	NM_030957		6	67	0	0	0	1	0	6	67					T	8654353	C	T	8654353	3	4	416	1	0	0	0	0	1	0	0	0	256	536	19	1	1334	1	ADAMTS10	19	8654353	Missense_Mutation	SNP	C	TCGA-VP-A87D-01A-11D-A34U-08	677938	8654353	50474630	57	20201											
CD22	933	broad.mit.edu	37	chr19	35831815	35831815	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aaggtgaccacagtgattcaAaaccccatgccgattcgaga	14	7	9	11	2	1	3	1	2	0	1	2	5	1	3	4	1	2	0	4	1	3	2			TCGA-VP-A87D-01A-11D-A34U-08	TCGA-VP-A87D-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a582e00-aad2-4360-868a-9ab8fa301eaa	4ca66d58-c6b9-4c71-b209-aa0a52690c09	g.chr19:35831815A>G	ENST00000085219.5	+	7	1347	c.1281A>G	c.(1279-1281)caA>caG	p.Q427Q	CD22_ENST00000594250.1_Silent_p.Q250Q|CD22_ENST00000270311.6_Silent_p.Q307Q|CD22_ENST00000536635.2_Silent_p.Q339Q|CD22_ENST00000544992.2_Silent_p.Q427Q|CD22_ENST00000419549.2_Silent_p.Q255Q|CD22_ENST00000341773.6_Silent_p.Q250Q	NM_001771.3	NP_001762.2	P20273	CD22_HUMAN	CD22 molecule	427	Ig-like C2-type 4.				cell adhesion (GO:0007155)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	carbohydrate binding (GO:0030246)			breast(2)|endometrium(2)|kidney(3)|large_intestine(14)|lung(21)|ovary(5)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	54	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;5.83e-19)|OV - Ovarian serous cystadenocarcinoma(14;3.19e-18)|all cancers(14;3.41e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)			CAGTGATTCAAAACCCCATGC	0.507																																					Ovarian(42;1009 1133 23674 26041)	ENST00000085219.5																			0				breast(2)|endometrium(2)|kidney(3)|large_intestine(14)|lung(21)|ovary(5)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	54						c.(1279-1281)caA>caG		CD22 molecule	OspA lipoprotein(DB00045)						128	114	119					19																	35831815		2203	4300	6503	SO:0001819	synonymous_variant	933				cell adhesion		protein binding|sugar binding	g.chr19:35831815A>G	X52785	CCDS12457.1, CCDS54247.1, CCDS54248.1, CCDS54249.1, CCDS62634.1	19q13.1	2013-01-29	2006-03-28		ENSG00000012124	ENSG00000012124		"CD molecules", "Sialic acid binding Ig-like lectins", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	1643	protein-coding gene	gene with protein product	"sialic acid binding Ig-like lectin 2"	107266	"CD22 antigen"			8496602, 1691828	Standard	NM_001185099		Approved	SIGLEC-2, SIGLEC2	uc010edt.3	P20273		ENST00000085219.5:c.1281A>G	19.37:g.35831815A>G						CD22_ENST00000419549.2_Silent_p.Q255Q|CD22_ENST00000341773.6_Silent_p.Q250Q|CD22_ENST00000536635.2_Silent_p.Q339Q|CD22_ENST00000594250.1_Silent_p.Q250Q|CD22_ENST00000270311.6_Silent_p.Q307Q|CD22_ENST00000544992.2_Silent_p.Q427Q	p.Q427Q	NM_001771.3	NP_001762.2	P20273	CD22_HUMAN	Epithelial(14;5.83e-19)|OV - Ovarian serous cystadenocarcinoma(14;3.19e-18)|all cancers(14;3.41e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)		7	1347	+	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		427			Ig-like C2-type 4.		F5GYU4|F5H7U3|O95699|O95701|O95702|O95703|Q01665|Q32M46|Q92872|Q92873|Q9UQA6|Q9UQA7|Q9UQA8|Q9UQA9|Q9UQB0|Q9Y2A6	Silent	SNP	ENST00000085219.5	37	c.1281A>G	CCDS12457.1																																																																																				0.507	CD22-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466099.1	NM_001771		3	83	0	0	0	1	0	3	83					G	35831815	A	G	35831815	2	3	416	1	0	0	0	0	0	0	0	1	2985	11	1	4		4	CD22	19	35831815	Silent	SNP	A	TCGA-VP-A87D-01A-11D-A34U-08	27177462	35831815	23297168	58	20202											
PSG7	5676	broad.mit.edu	37	chr19	43430713	43430713	+	RNA	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggatcctgttttcaatgcGtcgctttaccctgggactga	7	13	11	10	2	1	1	1	1	0	0	3	4	2	3	2	2	2	2	2	2	2	4			TCGA-VP-A87D-01A-11D-A34U-08	TCGA-VP-A87D-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a582e00-aad2-4360-868a-9ab8fa301eaa	4ca66d58-c6b9-4c71-b209-aa0a52690c09	g.chr19:43430713G>A	ENST00000406070.2	-	0	961				PSG7_ENST00000446844.3_RNA	NM_002783.2	NP_002774.2	Q13046	PSG7_HUMAN	pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene)						female pregnancy (GO:0007565)	extracellular region (GO:0005576)							Prostate(69;0.00682)				TTTTCAATGCGTCGCTTTACC	0.493																																						ENST00000446844.3																			0													pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene)							237	219	225					19																	43430713		2202	4284	6486			5676				female pregnancy	extracellular region		g.chr19:43430713G>A			19q13.2	2013-01-29	2010-02-26		ENSG00000221878	ENSG00000221878		"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	9524	protein-coding gene	gene with protein product		176396	"pregnancy specific beta-1-glycoprotein 7"				Standard	NM_002783		Approved		uc010xwl.2	Q13046	OTTHUMG00000151125		19.37:g.43430713G>A						PSG7_ENST00000406070.2_RNA				Q13046	PSG7_HUMAN			0	954	-		Prostate(69;0.00682)						Q15232	RNA	SNP	ENST00000406070.2	37																																																																																						0.493	PSG7-001	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000321431.2	NM_001206650		109	226	0	0	0	1	0	109	226					A	43430713	G	A	43430713	1	1	416	0	1	0	0	0	0	0	0	0	12660	1145	40	1		1	PSG7	19	43430713	RNA	SNP	G	TCGA-VP-A87D-01A-11D-A34U-08	7598898	43430713	15698270	59	20203											
PVRL2	5819	broad.mit.edu	37	chr19	45381839	45381839	+	Intron	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	atgacatggagtcccagctgGacggctccctcatctcacgg	8	8	11	14	2	2	1	2	1	1	0	5	3	4	3	2	4	1	2	2	4	0	0			TCGA-VP-A87D-01A-11D-A34U-08	TCGA-VP-A87D-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a582e00-aad2-4360-868a-9ab8fa301eaa	4ca66d58-c6b9-4c71-b209-aa0a52690c09	g.chr19:45381839G>A	ENST00000252483.5	+	6	1042				PVRL2_ENST00000252485.4_Missense_Mutation_p.D468N	NM_001042724.1	NP_001036189.1	Q92692	PVRL2_HUMAN	poliovirus receptor-related 2 (herpesvirus entry mediator B)						acrosome assembly (GO:0001675)|adherens junction organization (GO:0034332)|adhesion of symbiont to host (GO:0044406)|cell junction assembly (GO:0034329)|cell part morphogenesis (GO:0032990)|cell-cell junction organization (GO:0045216)|cilium organization (GO:0044782)|coreceptor-mediated virion attachment to host cell (GO:0046814)|cytoskeleton organization (GO:0007010)|establishment of mitochondrion localization (GO:0051654)|fertilization (GO:0009566)|fusion of virus membrane with host plasma membrane (GO:0019064)|homophilic cell adhesion (GO:0007156)|positive regulation of immunoglobulin mediated immune response (GO:0002891)|positive regulation of mast cell activation (GO:0033005)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target (GO:0002860)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)|sperm mitochondrion organization (GO:0030382)|spermatid development (GO:0007286)|spermatid nucleus differentiation (GO:0007289)|susceptibility to natural killer cell mediated cytotoxicity (GO:0042271)|susceptibility to T cell mediated cytotoxicity (GO:0060370)	cell surface (GO:0009986)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|zonula adherens (GO:0005915)	cell adhesion molecule binding (GO:0050839)|coreceptor activity (GO:0015026)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|virus receptor activity (GO:0001618)			breast(1)|endometrium(1)|large_intestine(6)|lung(5)	13	Lung NSC(12;0.00195)|all_lung(12;0.00522)	Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0143)		GTCCCAGCTGGACGGCTCCCT	0.637																																						ENST00000252485.4																			0				breast(1)|endometrium(1)|large_intestine(6)|lung(5)	13						c.(1402-1404)Gac>Aac		poliovirus receptor-related 2 (herpesvirus entry mediator B)							56	50	52					19																	45381839		2203	4300	6503	SO:0001627	intron_variant	5819				adherens junction organization|adhesion to symbiont|cell junction assembly|homophilic cell adhesion|positive regulation of immunoglobulin mediated immune response|positive regulation of mast cell activation|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target|susceptibility to natural killer cell mediated cytotoxicity|susceptibility to T cell mediated cytotoxicity|viral envelope fusion with host membrane|virion attachment, binding of host cell surface coreceptor	cell surface|integral to membrane|zonula adherens	cell adhesion molecule binding|coreceptor activity|protein homodimerization activity	g.chr19:45381839G>A	X80038	CCDS12645.1, CCDS42576.1	19q13.32	2013-01-29			ENSG00000130202	ENSG00000130202		"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	9707	protein-coding gene	gene with protein product		600798		HVEB		7622062, 10196354	Standard	NM_001042724		Approved	PVRR2, PRR2, CD112	uc002ozw.1	Q92692	OTTHUMG00000180839	ENST00000252483.5:c.1043-3629G>A	19.37:g.45381839G>A						PVRL2_ENST00000252483.5_Intron	p.D468N	NM_002856.2	NP_002847.1	Q92692	PVRL2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0143)	6	1753	+	Lung NSC(12;0.00195)|all_lung(12;0.00522)	Ovarian(192;0.0728)|all_neural(266;0.112)	527					A8K5L5|O75455|Q6IBI6|Q96J29	Missense_Mutation	SNP	ENST00000252483.5	37	c.1402G>A	CCDS42576.1	.	.	.	.	.	.	.	.	.	.	G	27.1	4.797046	0.90453	.	.	ENSG00000130202	ENST00000252485	T	0.76968	-1.06	5.91	5.91	0.95273	.	.	.	.	.	D	0.86619	0.5976	L	0.58810	1.83	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.86962	0.2092	9	0.87932	D	0	.	17.7902	0.88550	0.0:0.0:1.0:0.0	.	468	Q92692-2	.	N	468	ENSP00000252485:D468N	ENSP00000252485:D468N	D	+	1	0	PVRL2	50073679	1.000000	0.71417	1.000000	0.80357	0.874000	0.50279	6.056000	0.71111	2.813000	0.96785	0.655000	0.94253	GAC		0.637	PVRL2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000453231.1	NM_002856		3	34	0	0	0	1	0	3	34					A	45381839	G	A	45381839	1	1	416	0	1	0	0	0	0	0	0	0	12840	1174	41	3		3	PVRL2	19	45381839	Intron	SNP	G	TCGA-VP-A87D-01A-11D-A34U-08	1951126	45381839	13747144	60	20204											
ZNF256	10172	broad.mit.edu	37	chr19	58453386	58453386	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tccacatgtataaggcttttCtgaagtgtgaactctcaaat	12	14	7	8	0	2	2	1	2	2	0	4	2	3	2	1	1	1	2	1	1	5	4			TCGA-VP-A87D-01A-11D-A34U-08	TCGA-VP-A87D-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a582e00-aad2-4360-868a-9ab8fa301eaa	4ca66d58-c6b9-4c71-b209-aa0a52690c09	g.chr19:58453386C>T	ENST00000282308.3	-	3	986	c.790G>A	c.(790-792)Gaa>Aaa	p.E264K	ZNF256_ENST00000598928.1_3'UTR	NM_005773.2	NP_005764.2	Q9Y2P7	ZN256_HUMAN	zinc finger protein 256	264					multicellular organismal development (GO:0007275)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|kidney(3)|large_intestine(6)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0155)		TAAGGCTTTTCTGAAGTGTGA	0.428																																					NSCLC(55;1313 1552 8040 11996)	ENST00000282308.3																			0				endometrium(1)|kidney(3)|large_intestine(6)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						c.(790-792)Gaa>Aaa		zinc finger protein 256							144	137	139					19																	58453386		2203	4300	6503	SO:0001583	missense	10172				multicellular organismal development|negative regulation of transcription, DNA-dependent	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:58453386C>T	AF067165	CCDS12966.1	19q13	2013-01-08				ENSG00000152454		"Zinc fingers, C2H2-type", "-"	13049	protein-coding gene	gene with protein product		606956					Standard	NM_005773		Approved	BMZF-3	uc002qqu.3	Q9Y2P7		ENST00000282308.3:c.790G>A	19.37:g.58453386C>T	ENSP00000282308:p.Glu264Lys					ZNF256_ENST00000598928.1_3'UTR	p.E264K	NM_005773.2	NP_005764.2	Q9Y2P7	ZN256_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0155)	3	986	-		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)	264					B2RA92|Q53Y85|Q9BV71	Missense_Mutation	SNP	ENST00000282308.3	37	c.790G>A	CCDS12966.1	.	.	.	.	.	.	.	.	.	.	.	19.07	3.756646	0.69648	.	.	ENSG00000152454	ENST00000282308	T	0.24350	1.86	3.04	1.96	0.26148	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.30293	0.0760	M	0.73319	2.225	0.27882	N	0.939647	P	0.46395	0.877	B	0.42653	0.394	T	0.15009	-1.0452	9	0.51188	T	0.08	.	11.0305	0.47769	0.0:0.8084:0.1916:0.0	.	264	Q9Y2P7	ZN256_HUMAN	K	264	ENSP00000282308:E264K	ENSP00000282308:E264K	E	-	1	0	ZNF256	63145198	0.740000	0.28207	0.035000	0.18076	0.902000	0.53008	3.314000	0.51943	0.584000	0.29591	0.460000	0.39030	GAA		0.428	ZNF256-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466702.1			67	360	0	0	0	1	0	67	360					T	58453386	C	T	58453386	3	4	416	1	0	0	0	0	1	0	0	0	17796	922	32	3	1097	3	ZNF256	19	58453386	Missense_Mutation	SNP	C	TCGA-VP-A87D-01A-11D-A34U-08	13071547	58453386	675597	61	20205											
C20orf117	140710	broad.mit.edu	37	chr20	35425294	35425294	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	catgcaagcacctctttaaaCcatttcctccaagctcaact	12	11	3	15	0	2	0	1	0	1	0	4	0	4	0	4	0	5	3	4	0	5	3			TCGA-VP-A87D-01A-11D-A34U-08	TCGA-VP-A87D-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a582e00-aad2-4360-868a-9ab8fa301eaa	4ca66d58-c6b9-4c71-b209-aa0a52690c09	g.chr20:35425294C>G	ENST00000357779.3	-	13	3085	c.2759G>C	c.(2758-2760)gGt>gCt	p.G920A	SOGA1_ENST00000456801.2_Missense_Mutation_p.G761A|SOGA1_ENST00000279034.6_Missense_Mutation_p.G920A|SOGA1_ENST00000237536.4_Missense_Mutation_p.G1158A			O94964	SOGA1_HUMAN	suppressor of glucose, autophagy associated 1	920					insulin receptor signaling pathway (GO:0008286)|negative regulation of gluconeogenesis (GO:0045721)|regulation of autophagy (GO:0010506)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				endometrium(5)|kidney(1)|lung(21)|urinary_tract(1)	28						CCTCTTTAAACCATTTCCTCC	0.582																																						ENST00000237536.4																			0				endometrium(5)|kidney(1)|lung(21)|urinary_tract(1)	28						c.(3472-3474)gGt>gCt		suppressor of glucose, autophagy associated 1							110	119	116					20																	35425294		2128	4233	6361	SO:0001583	missense	140710							g.chr20:35425294C>G	AK126630	CCDS46598.1, CCDS54459.1	20q11.23	2012-03-01	2012-02-27	2012-02-27	ENSG00000149639	ENSG00000149639			16111	protein-coding gene	gene with protein product	"suppressor of glucose by autophagy", "suppressor of glucose from autophagy"		"chromosome 20 open reading frame 117", "KIAA0889"	C20orf117, KIAA0889		20813965	Standard	NM_080627		Approved	dJ132F21.1, FLJ44670, SOGA	uc021wcx.1	O94964	OTTHUMG00000032395	ENST00000357779.3:c.2759G>C	20.37:g.35425294C>G	ENSP00000350424:p.Gly920Ala					SOGA1_ENST00000279034.5_Missense_Mutation_p.G920A|SOGA1_ENST00000357779.3_Missense_Mutation_p.G920A|SOGA1_ENST00000456801.2_Missense_Mutation_p.G761A	p.G1158A	NM_080627.2	NP_542194.2	O94964	K0889_HUMAN			13	3814	-			920					A6NK10|Q14DB2|Q5JW51|Q6ZTG8	Missense_Mutation	SNP	ENST00000357779.3	37	c.3473G>C		.	.	.	.	.	.	.	.	.	.	C	3.560	-0.089841	0.07053	.	.	ENSG00000149639	ENST00000237536;ENST00000279034;ENST00000456801;ENST00000357779	T;T;T;T	0.39056	1.1;1.1;1.1;1.1	5.15	3.07	0.35406	.	0.919519	0.09398	N	0.807598	T	0.18964	0.0455	N	0.04880	-0.145	0.26506	N	0.974681	B	0.02656	0.0	B	0.06405	0.002	T	0.25187	-1.0139	10	0.16420	T	0.52	-16.3361	4.4448	0.11591	0.0:0.5947:0.2527:0.1526	.	920	O94964-4	.	A	1158;920;761;920	ENSP00000237536:G1158A;ENSP00000279034:G920A;ENSP00000413886:G761A;ENSP00000350424:G920A	ENSP00000237536:G1158A	G	-	2	0	KIAA0889	34858708	0.152000	0.22762	0.534000	0.28014	0.058000	0.15608	0.458000	0.21892	1.385000	0.46445	0.561000	0.74099	GGT		0.582	SOGA1-201	KNOWN	basic	protein_coding	protein_coding		NM_199181		11	43	0	0	0	1	0	11	43					G	35425294	C	G	35425294	3	3	416	1	0	0	0	0	1	0	0	0	2083	507	18	5	1586	5	C20orf117	20	35425294	Missense_Mutation	SNP	C	TCGA-VP-A87D-01A-11D-A34U-08		35425294	27600226	62	20206											
ZFP64	55734	broad.mit.edu	37	chr20	50803477	50803477	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	accgtgctgggggctgctgcGgatgtgcctgtcagctggca	4	9	17	11	2	1	0	1	0	0	0	1	1	1	1	2	4	5	5	2	4	0	0	rs202197689	byFrequency	TCGA-VP-A87D-01A-11D-A34U-08	TCGA-VP-A87D-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a582e00-aad2-4360-868a-9ab8fa301eaa	4ca66d58-c6b9-4c71-b209-aa0a52690c09	g.chr20:50803477G>A	ENST00000216923.4	-	2	529	c.180C>T	c.(178-180)tcC>tcT	p.S60S	ZFP64_ENST00000361387.2_Silent_p.S60S|ZFP64_ENST00000371515.4_Silent_p.S58S|ZFP64_ENST00000371518.2_Silent_p.S60S|ZFP64_ENST00000346617.4_Silent_p.S60S	NM_018197.2|NM_199426.1	NP_060667.2|NP_955458.1	Q9NPA5	ZF64A_HUMAN	ZFP64 zinc finger protein	60					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(5)|large_intestine(8)|lung(11)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	33						GGGCTGCTGCGGATGTGCCTG	0.567													G|||	2	0.000399361	0.0015	0	5008	,	,		17226	0		0	False		,,,				2504	0					ENST00000216923.4																			0				breast(2)|endometrium(5)|large_intestine(8)|lung(11)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	33						c.(178-180)tcC>tcT		ZFP64 zinc finger protein		G	,,,	2,4404	4.2+/-10.8	0,2,2201	103	89	94		180,180,174,180	-10.9	0	20		94	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	ZFP64	NM_018197.2,NM_022088.4,NM_199426.1,NM_199427.2	,,,	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	,,,	60/682,60/628,58/680,60/646	50803477	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	55734				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr20:50803477G>A	AK001596	CCDS13439.1, CCDS13440.1, CCDS13441.1, CCDS13442.1	20q13.11-q13.13	2013-01-08	2012-11-27		ENSG00000020256	ENSG00000020256		"Zinc fingers, C2H2-type"	15940	protein-coding gene	gene with protein product			"zinc finger protein 338", "zinc finger protein 64 homolog (mouse)", "zinc finger protein 64"	ZNF338		9034307	Standard	NM_199427		Approved	FLJ10734, dJ831D17.1, FLJ12628, dJ548G19.1	uc002xwl.3	Q9NPA5	OTTHUMG00000032756	ENST00000216923.4:c.180C>T	20.37:g.50803477G>A						ZFP64_ENST00000371518.2_Silent_p.S60S|ZFP64_ENST00000361387.2_Silent_p.S60S|ZFP64_ENST00000371515.4_Silent_p.S58S|ZFP64_ENST00000346617.4_Silent_p.S60S	p.S60S	NM_018197.2|NM_199426.1	NP_060667.2|NP_955458.1	Q9NPA5	ZF64A_HUMAN			2	529	-			60					Q9NTS7|Q9NVH4	Silent	SNP	ENST00000216923.4	37	c.180C>T	CCDS13440.1																																																																																				0.567	ZFP64-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000079744.1	NM_018197		5	54	0	0	0	1	0	5	54					A	50803477	G	A	50803477	2	1	416	1	0	0	0	0	0	0	0	1	17649	1103	39	2		2	ZFP64	20	50803477	Silent	SNP	G	TCGA-VP-A87D-01A-11D-A34U-08	15378183	50803477	12222043	63	20207											
RBM11	54033	broad.mit.edu	37	chr21	15592040	15592040	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gaccaattaacgtgcagtatCgatttggtaggtcctgtcac	10	12	10	9	2	1	0	1	0	0	0	3	2	2	0	2	2	2	3	2	2	4	4			TCGA-VP-A87D-01A-11D-A34U-08	TCGA-VP-A87D-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a582e00-aad2-4360-868a-9ab8fa301eaa	4ca66d58-c6b9-4c71-b209-aa0a52690c09	g.chr21:15592040C>T	ENST00000400577.3	+	2	262	c.253C>T	c.(253-255)Cga>Tga	p.R85*	RBM11_ENST00000468643.1_3'UTR	NM_144770.3	NP_658983.3	P57052	RBM11_HUMAN	RNA binding motif protein 11	85	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.				cell differentiation (GO:0030154)|cellular response to oxidative stress (GO:0034599)|mRNA processing (GO:0006397)|multicellular organismal development (GO:0007275)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing (GO:0008380)	nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(U) RNA binding (GO:0008266)|protein homodimerization activity (GO:0042803)			endometrium(3)|kidney(3)|lung(7)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	16				Epithelial(23;0.000314)|COAD - Colon adenocarcinoma(22;0.00242)|Colorectal(24;0.0129)|Lung(58;0.141)		CGTGCAGTATCGATTTGGTAG	0.373																																						ENST00000400577.3																			0				endometrium(3)|kidney(3)|lung(7)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	16						c.(253-255)Cga>Tga		RNA binding motif protein 11							91	82	85					21																	15592040		1568	3582	5150	SO:0001587	stop_gained	54033						nucleotide binding|RNA binding	g.chr21:15592040C>T	AF130358	CCDS46635.1	21q11	2013-02-12			ENSG00000185272	ENSG00000185272		"RNA binding motif (RRM) containing"	9897	protein-coding gene	gene with protein product						12036298	Standard	NM_144770		Approved		uc002yjo.4	P57052	OTTHUMG00000074263	ENST00000400577.3:c.253C>T	21.37:g.15592040C>T	ENSP00000383421:p.Arg85*					RBM11_ENST00000468643.1_3'UTR	p.R85*	NM_144770.3	NP_658983.3	P57052	RBM11_HUMAN		Epithelial(23;0.000314)|COAD - Colon adenocarcinoma(22;0.00242)|Colorectal(24;0.0129)|Lung(58;0.141)	2	262	+			85			RRM.		Q6YNC2|Q8NBA1|Q8NFF6	Nonsense_Mutation	SNP	ENST00000400577.3	37	c.253C>T	CCDS46635.1	.	.	.	.	.	.	.	.	.	.	C	33	5.197580	0.94997	.	.	ENSG00000185272	ENST00000400577	.	.	.	5.29	4.36	0.52297	.	0.126326	0.35495	N	0.003163	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.09590	T	0.72	-16.0949	15.5919	0.76537	0.1377:0.8623:0.0:0.0	.	.	.	.	X	85	.	ENSP00000383421:R85X	R	+	1	2	RBM11	14513911	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.592000	0.46171	2.661000	0.90470	0.655000	0.94253	CGA		0.373	RBM11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157818.1	NM_144770		3	13	0	0	0	1	0	3	13					T	15592040	C	T	15592040	4	4	416	1	0	0	0	0	0	1	0	0	13112	876	31	2	259	2	RBM11	21	15592040	Nonsense_Mutation	SNP	C	TCGA-VP-A87D-01A-11D-A34U-08		15592040	32537855	64	20208											
SEZ6L	23544	broad.mit.edu	37	chr22	26707841	26707841	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tggagttcacctgcgaccccGgccactccctggagcagggc	6	6	13	16	2	1	0	1	0	0	0	2	3	2	2	5	4	2	2	5	4	0	1	rs375633558		TCGA-VP-A87D-01A-11D-A34U-08	TCGA-VP-A87D-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a582e00-aad2-4360-868a-9ab8fa301eaa	4ca66d58-c6b9-4c71-b209-aa0a52690c09	g.chr22:26707841G>T	ENST00000248933.6	+	8	1884	c.1789G>T	c.(1789-1791)Ggc>Tgc	p.G597C	SEZ6L_ENST00000360929.3_Missense_Mutation_p.G597C|SEZ6L_ENST00000343706.4_Missense_Mutation_p.G597C|SEZ6L_ENST00000529632.2_Missense_Mutation_p.G597C|SEZ6L_ENST00000403121.1_Missense_Mutation_p.G370C|SEZ6L_ENST00000404234.3_Missense_Mutation_p.G597C|SEZ6L_ENST00000402979.1_Missense_Mutation_p.G370C			Q9BYH1	SE6L1_HUMAN	seizure related 6 homolog (mouse)-like	597	Sushi 2. {ECO:0000255|PROSITE- ProRule:PRU00302}.				adult locomotory behavior (GO:0008344)|cerebellar Purkinje cell layer development (GO:0021680)|regulation of protein kinase C signaling (GO:0090036)|synapse maturation (GO:0060074)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	80						CTGCGACCCCGGCCACTCCCT	0.567																																						ENST00000529632.2																			0				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	80						c.(1789-1791)Ggc>Tgc		seizure related 6 homolog (mouse)-like							152	152	152					22																	26707841		2203	4300	6503	SO:0001583	missense	23544					endoplasmic reticulum membrane|integral to membrane		g.chr22:26707841G>T	AL050253	CCDS13833.1, CCDS54508.1, CCDS54510.1, CCDS54511.1, CCDS74837.1	22q12.1	2008-05-14	2001-11-28		ENSG00000100095	ENSG00000100095			10763	protein-coding gene	gene with protein product		607021	"seizure related gene 6 (mouse)-like"				Standard	NM_021115		Approved		uc003acb.3	Q9BYH1	OTTHUMG00000150870	ENST00000248933.6:c.1789G>T	22.37:g.26707841G>T	ENSP00000248933:p.Gly597Cys					SEZ6L_ENST00000403121.1_Missense_Mutation_p.G370C|SEZ6L_ENST00000404234.3_Missense_Mutation_p.G597C|SEZ6L_ENST00000248933.6_Missense_Mutation_p.G597C|SEZ6L_ENST00000402979.1_Missense_Mutation_p.G370C|SEZ6L_ENST00000360929.3_Missense_Mutation_p.G597C|SEZ6L_ENST00000343706.4_Missense_Mutation_p.G597C	p.G597C	NM_001184774.1|NM_001184775.1|NM_001184777.1	NP_001171703.1|NP_001171704.1|NP_001171706.1	Q9BYH1	SE6L1_HUMAN			8	1985	+			597			Sushi 2.		A0AUW7|B0QYG4|B0QYG5|B7ZLJ6|G8JLP3|O95917|Q5THY5|Q6IBZ4|Q6UXD4|Q9NUI3|Q9NUI4|Q9NUI5|Q9Y2E1|Q9Y3J6	Missense_Mutation	SNP	ENST00000248933.6	37	c.1789G>T	CCDS13833.1	.	.	.	.	.	.	.	.	.	.	G	26.7	4.759687	0.89932	.	.	ENSG00000100095	ENST00000404234;ENST00000529632;ENST00000360929;ENST00000248933;ENST00000343706;ENST00000403121;ENST00000402979	T;T;T;T;T;T;T	0.77489	-1.1;-1.1;-1.1;-1.1;-1.1;-1.1;-1.1	4.83	4.83	0.62350	Complement control module (2);Sushi/SCR/CCP (3);	0.000000	0.56097	D	0.000021	D	0.91895	0.7434	H	0.96142	3.775	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D	0.94391	0.7614	10	0.87932	D	0	.	17.0892	0.86618	0.0:0.0:1.0:0.0	.	597;597;370;597;597;597;597	B7ZLJ8;B7ZLJ6;B0QYH4;Q9BYH1-5;Q9BYH1-4;B0QYG3;Q9BYH1	.;.;.;.;.;.;SE6L1_HUMAN	C	597;597;597;597;597;370;370	ENSP00000384772:G597C;ENSP00000437037:G597C;ENSP00000354185:G597C;ENSP00000248933:G597C;ENSP00000342661:G597C;ENSP00000384838:G370C;ENSP00000384733:G370C	ENSP00000248933:G597C	G	+	1	0	SEZ6L	25037841	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	9.085000	0.94083	2.498000	0.84270	0.563000	0.77884	GGC		0.567	SEZ6L-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000320359.3			4	187	1	0	0.000602214	1	0.000642905	4	187					T	26707841	G	T	26707841	3	4	416	1	0	0	0	0	1	0	0	0	14143	1116	39	5	1819	5	SEZ6L	22	26707841	Missense_Mutation	SNP	G	TCGA-VP-A87D-01A-11D-A34U-08		26707841	24596725	65	20209											
PARVB	29780	broad.mit.edu	37	chr22	44532375	44532375	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgcattccagccacatctcGgaggagctgaccacaactac	11	7	8	15	1	1	1	0	1	1	0	3	3	2	3	3	2	5	2	3	2	2	2			TCGA-VP-A87D-01A-11D-A34U-08	TCGA-VP-A87D-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a582e00-aad2-4360-868a-9ab8fa301eaa	4ca66d58-c6b9-4c71-b209-aa0a52690c09	g.chr22:44532375G>A	ENST00000338758.7	+	7	732	c.669G>A	c.(667-669)tcG>tcA	p.S223S	PARVB_ENST00000404989.1_Silent_p.S186S|PARVB_ENST00000406477.3_Silent_p.S256S	NM_013327.4	NP_037459.2	Q9HBI1	PARVB_HUMAN	parvin, beta	223					actin cytoskeleton reorganization (GO:0031532)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell projection assembly (GO:0030031)|establishment or maintenance of cell polarity regulating cell shape (GO:0071963)|lamellipodium assembly (GO:0030032)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)				NS(1)|breast(1)|endometrium(3)|large_intestine(7)|lung(8)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	25		Ovarian(80;0.0246)|all_neural(38;0.0423)				GCCACATCTCGGAGGAGCTGA	0.552																																						ENST00000338758.6																			0				NS(1)|breast(1)|endometrium(3)|large_intestine(7)|lung(8)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	25						c.(667-669)tcG>tcA		parvin, beta							97	86	89					22																	44532375		2203	4300	6503	SO:0001819	synonymous_variant	29780				cell adhesion|cell junction assembly	cytoskeleton|cytosol|focal adhesion	actin binding	g.chr22:44532375G>A	AF151814	CCDS14056.1, CCDS46724.1, CCDS58808.1, CCDS74874.1	22q13.2-q13.33	2013-01-24			ENSG00000188677	ENSG00000188677		"Parvins"	14653	protein-coding gene	gene with protein product	"affixin"	608121				10810093, 11171322	Standard	NM_001003828		Approved	CGI-56	uc003ben.3	Q9HBI1	OTTHUMG00000150665	ENST00000338758.7:c.669G>A	22.37:g.44532375G>A						PARVB_ENST00000406477.3_Silent_p.S256S|PARVB_ENST00000404989.1_Silent_p.S186S	p.S223S	NM_013327.4	NP_037459.2	Q9HBI1	PARVB_HUMAN			7	732	+		Ovarian(80;0.0246)|all_neural(38;0.0423)	223					B0QYM8|B0QYN1|B2R9X6|Q5TGJ5|Q86X93|Q96PN1|Q9NSP7|Q9UGT3|Q9Y368|Q9Y3L6|Q9Y3L7	Silent	SNP	ENST00000338758.7	37	c.669G>A	CCDS14056.1																																																																																				0.552	PARVB-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319518.2	NM_001003828		7	37	0	0	0	1	0	7	37					A	44532375	G	A	44532375	2	1	416	1	0	0	0	0	0	0	0	1	11469	1103	39	2		2	PARVB	22	44532375	Silent	SNP	G	TCGA-VP-A87D-01A-11D-A34U-08	17824534	44532375	6772191	66	20210											
FAM47C	442444	broad.mit.edu	37	chrX	37028160	37028160	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	actggagtgtcccatctccgCccagagcctcccaagactcg	8	7	9	17	2	1	2	0	0	1	2	5	3	3	3	5	1	1	0	5	1	1	0			TCGA-VP-A87D-01A-11D-A34U-08	TCGA-VP-A87D-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a582e00-aad2-4360-868a-9ab8fa301eaa	4ca66d58-c6b9-4c71-b209-aa0a52690c09	g.chrX:37028160C>T	ENST00000358047.3	+	1	1729	c.1677C>T	c.(1675-1677)cgC>cgT	p.R559R		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	559										breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						CCCATCTCCGCCCAGAGCCTC	0.612																																						ENST00000358047.3																			0				breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						c.(1675-1677)cgC>cgT		family with sequence similarity 47, member C							49	55	53					X																	37028160		2181	4283	6464	SO:0001819	synonymous_variant	442444							g.chrX:37028160C>T	AK125992	CCDS35227.1	Xp21.1	2006-07-04			ENSG00000198173	ENSG00000198173			25301	protein-coding gene	gene with protein product							Standard	NM_001013736		Approved		uc004ddl.2	Q5HY64	OTTHUMG00000024025	ENST00000358047.3:c.1677C>T	X.37:g.37028160C>T							p.R559R	NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN			1	1729	+			559					Q6ZU46	Silent	SNP	ENST00000358047.3	37	c.1677C>T	CCDS35227.1																																																																																				0.612	FAM47C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060508.1	NM_001013736		36	12	0	0	0	1	0	36	12					T	37028160	C	T	37028160	2	4	416	1	0	0	0	0	0	0	0	1	5571	726	26	3		3	FAM47C	23	37028160	Silent	SNP	C	TCGA-VP-A87D-01A-11D-A34U-08		37028160	118242400	67	20211											
PCDH11Y	83259	broad.mit.edu	37	chrY	4925456	4925456	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ctctcccagcggctgttgatCctgacgtaggcataaacgga	9	9	11	12	3	1	2	0	2	1	0	3	3	2	3	2	3	2	4	2	3	3	3			TCGA-VP-A87D-01A-11D-A34U-08	TCGA-VP-A87D-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a582e00-aad2-4360-868a-9ab8fa301eaa	4ca66d58-c6b9-4c71-b209-aa0a52690c09	g.chrY:4925456C>T	ENST00000333703.4	+	4	1072	c.559C>T	c.(559-561)Cct>Tct	p.P187S	PCDH11Y_ENST00000362095.5_Missense_Mutation_p.P198S|PCDH11Y_ENST00000215473.6_Missense_Mutation_p.P198S	NM_001278619.1|NM_032971.2	NP_001265548.1|NP_116753.1	Q9BZA8	PC11Y_HUMAN	protocadherin 11 Y-linked	198	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|kidney(2)|large_intestine(7)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						GGCTGTTGATCCTGACGTAGG	0.348																																						ENST00000333703.4																			0				autonomic_ganglia(1)|kidney(2)|large_intestine(7)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						c.(559-561)Cct>Tct		protocadherin 11 Y-linked																																				SO:0001583	missense	83259				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chrY:4925456C>T	AF332217	CCDS14776.1, CCDS14777.1, CCDS76066.1	Yp11.2	2010-01-26	2002-05-22	2002-05-24	ENSG00000099715	ENSG00000099715		"Cadherins / Protocadherins : Non-clustered"	15813	protein-coding gene	gene with protein product		400022	"protocadherin 22"	PCDH22		10644456, 11003707	Standard	NM_032971		Approved	PCDHY	uc004fqo.3	Q9BZA8	OTTHUMG00000035105	ENST00000333703.4:c.559C>T	Y.37:g.4925456C>T	ENSP00000330552:p.Pro187Ser					PCDH11Y_ENST00000215473.6_Missense_Mutation_p.P198S|PCDH11Y_ENST00000362095.5_Missense_Mutation_p.P198S	p.P187S	NM_001278619.1|NM_032971.2	NP_001265548.1|NP_116753.1	Q9BZA8	PC11Y_HUMAN			4	1072	+			198			Cadherin 2.		Q70LR6|Q70LR8|Q70LS0|Q70LS1|Q70LS2|Q70LS3|Q70LS4|Q70LS5|Q8WY34|Q9BZA9|Q9H4E1	Missense_Mutation	SNP	ENST00000333703.4	37	c.559C>T	CCDS14776.1																																																																																				0.348	PCDH11Y-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084979.2	NM_032973		49	16	0	0	0	1	0	49	16					T	4925456	C	T	4925456	3	4	416	1	0	0	0	0	1	0	0	0	11509	855	30	3	630	3	PCDH11Y	24	4925456	Missense_Mutation	SNP	C	TCGA-VP-A87D-01A-11D-A34U-08		4925456	54448110	68	20212											
CD1B	910	broad.mit.edu	37	chr1	158300734	158300734	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aatatggcagtgcctgagtcGctatcccagccatgaatctg	10	10	10	11	1	1	2	0	2	1	0	3	2	2	2	3	1	2	2	3	1	4	2			TCGA-VP-A87E-01A-31D-A34U-08	TCGA-VP-A87E-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eae221e0-1a67-4302-a04a-10195507d23b	a73d17ac-6872-4b3d-a945-212f2a20d843	g.chr1:158300734G>A	ENST00000368168.3	-	2	287	c.180C>T	c.(178-180)agC>agT	p.S60S		NM_001764.2	NP_001755.1	P29016	CD1B_HUMAN	CD1b molecule	60					antigen processing and presentation (GO:0019882)|immune response (GO:0006955)	cell surface (GO:0009986)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|plasma membrane (GO:0005886)				breast(2)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	30	all_hematologic(112;0.0378)					TGCCTGAGTCGCTATCCCAGC	0.463																																						ENST00000368168.3																			0				breast(2)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	30						c.(178-180)agC>agT		CD1b molecule							237	228	231					1																	158300734		2203	4300	6503	SO:0001819	synonymous_variant	910				antigen processing and presentation|immune response	endosome membrane|integral to membrane|lysosomal membrane|plasma membrane	protein binding	g.chr1:158300734G>A	M28826	CCDS1176.1	1q23.1	2014-01-14	2006-03-28		ENSG00000158485	ENSG00000158485		"CD molecules", "Immunoglobulin superfamily / C1-set domain containing"	1635	protein-coding gene	gene with protein product		188360	"CD1B antigen, b polypeptide", "CD1b antigen"	CD1		2447586	Standard	NM_001764		Approved		uc001frx.3	P29016	OTTHUMG00000017513	ENST00000368168.3:c.180C>T	1.37:g.158300734G>A							p.S60S	NM_001764.2	NP_001755.1	P29016	CD1B_HUMAN			2	287	-	all_hematologic(112;0.0378)		60					Q5TDK9|Q5TDL0|Q9UMM2	Silent	SNP	ENST00000368168.3	37	c.180C>T	CCDS1176.1	.	.	.	.	.	.	.	.	.	.	G	0.040	-1.290081	0.01387	.	.	ENSG00000158485	ENST00000451207	.	.	.	4.01	-5.15	0.02866	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-2.9556	5.9793	0.19399	0.2474:0.3175:0.435:0.0	.	.	.	.	X	28	.	.	R	-	1	2	CD1B	156567358	0.000000	0.05858	0.000000	0.03702	0.016000	0.09150	-1.318000	0.02705	-0.712000	0.04988	-1.085000	0.02201	CGA		0.463	CD1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046350.2	NM_001764		9	262	0	0	0	1	0	9	262					A	158300734	G	A	158300734	2	1	417	1	0	0	0	0	0	0	0	1	2975	1078	38	1		1	CD1B	1	158300734	Silent	SNP	G	TCGA-VP-A87E-01A-31D-A34U-08		158300734	90949887	1	20213											
HHAT	55733	broad.mit.edu	37	chr1	210577932	210577932	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gctgcctgctgcatcgacctCctactcctttccctggatgc	4	12	8	17	1	0	0	0	0	0	0	4	2	3	1	5	1	5	3	5	1	1	2			TCGA-VP-A87E-01A-31D-A34U-08	TCGA-VP-A87E-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eae221e0-1a67-4302-a04a-10195507d23b	a73d17ac-6872-4b3d-a945-212f2a20d843	g.chr1:210577932C>T	ENST00000367010.1	+	6	820	c.593C>T	c.(592-594)tCc>tTc	p.S198F	HHAT_ENST00000391905.3_Missense_Mutation_p.S198F|HHAT_ENST00000261458.3_Missense_Mutation_p.S198F|HHAT_ENST00000413764.2_Missense_Mutation_p.S198F|HHAT_ENST00000308852.6_Missense_Mutation_p.S153F|HHAT_ENST00000545781.1_Missense_Mutation_p.S135F|HHAT_ENST00000537898.1_Missense_Mutation_p.S133F|HHAT_ENST00000541565.1_Intron|HHAT_ENST00000545154.1_Missense_Mutation_p.S199F	NM_001170580.1	NP_001164051.1	Q5VTY9	HHAT_HUMAN	hedgehog acyltransferase	198					multicellular organismal development (GO:0007275)|protein palmitoylation (GO:0018345)|smoothened signaling pathway (GO:0007224)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	GTP binding (GO:0005525)|palmitoyltransferase activity (GO:0016409)			breast(3)|central_nervous_system(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	27				OV - Ovarian serous cystadenocarcinoma(81;0.0136)|all cancers(67;0.161)|KIRC - Kidney renal clear cell carcinoma(1967;0.215)		GCATCGACCTCCTACTCCTTT	0.547																																						ENST00000367010.1																			0				breast(3)|central_nervous_system(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	27						c.(592-594)tCc>tTc		hedgehog acyltransferase							104	94	98					1																	210577932		2203	4300	6503	SO:0001583	missense	55733				multicellular organismal development	endoplasmic reticulum membrane|integral to membrane	GTP binding	g.chr1:210577932C>T	AK001586	CCDS1495.1, CCDS53471.1, CCDS53472.1, CCDS53473.1	1q32	2008-02-05			ENSG00000054392	ENSG00000054392			18270	protein-coding gene	gene with protein product		605743				11160356	Standard	NM_001170587		Approved	FLJ10724, MART-2, MART2, Skn, ski, rasp, sit, GUP2	uc009xcx.3	Q5VTY9	OTTHUMG00000036447	ENST00000367010.1:c.593C>T	1.37:g.210577932C>T	ENSP00000355977:p.Ser198Phe					HHAT_ENST00000537898.1_Missense_Mutation_p.S133F|HHAT_ENST00000261458.3_Missense_Mutation_p.S198F|HHAT_ENST00000308852.6_Missense_Mutation_p.S153F|HHAT_ENST00000391905.3_Missense_Mutation_p.S198F|HHAT_ENST00000545781.1_Missense_Mutation_p.S135F|HHAT_ENST00000545154.1_Missense_Mutation_p.S199F|HHAT_ENST00000413764.2_Missense_Mutation_p.S198F|HHAT_ENST00000541565.1_Intron	p.S198F	NM_001170580.1	NP_001164051.1	Q5VTY9	HHAT_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0136)|all cancers(67;0.161)|KIRC - Kidney renal clear cell carcinoma(1967;0.215)	6	820	+			198					B7Z4D5|B7Z5I1|B7Z868|B7ZA75|D3DT91|F5H444|Q17RZ7|Q4G0K3|Q5CZ95|Q5TGI2|Q9NVH9|Q9Y3N8	Missense_Mutation	SNP	ENST00000367010.1	37	c.593C>T	CCDS1495.1	.	.	.	.	.	.	.	.	.	.	C	4.357	0.065756	0.08388	.	.	ENSG00000054392	ENST00000413764;ENST00000545154;ENST00000537898;ENST00000391905;ENST00000545781;ENST00000261458;ENST00000308852;ENST00000367010;ENST00000426968	T;T;T;T;T;T;T;T;T	0.74002	-0.8;-0.8;-0.8;-0.8;-0.8;-0.8;-0.8;-0.8;-0.8	5.54	2.54	0.30619	.	0.628414	0.17302	N	0.179233	T	0.49372	0.1553	N	0.12746	0.255	0.09310	N	0.999993	B;B;B;B	0.12630	0.002;0.006;0.005;0.002	B;B;B;B	0.14023	0.007;0.006;0.01;0.004	T	0.29027	-1.0025	10	0.09338	T	0.73	-12.5813	6.4024	0.21646	0.1361:0.6463:0.1331:0.0845	.	153;199;133;198	B7Z2U8;F5H444;B7Z5I1;Q5VTY9	.;.;.;HHAT_HUMAN	F	198;199;133;198;135;198;153;198;70	ENSP00000416845:S198F;ENSP00000438468:S199F;ENSP00000442625:S133F;ENSP00000375773:S198F;ENSP00000439229:S135F;ENSP00000261458:S198F;ENSP00000308628:S153F;ENSP00000355977:S198F;ENSP00000413399:S70F	ENSP00000261458:S198F	S	+	2	0	HHAT	208644555	0.001000	0.12720	0.325000	0.25375	0.186000	0.23388	0.196000	0.17176	0.229000	0.21039	0.591000	0.81541	TCC		0.547	HHAT-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088662.1	NM_018194		16	92	0	0	0	1	0	16	92					T	210577932	C	T	210577932	3	4	417	1	0	0	0	0	1	0	0	0	7089	855	30	3	709	3	HHAT	1	210577932	Missense_Mutation	SNP	C	TCGA-VP-A87E-01A-31D-A34U-08	52277198	210577932	38672689	2	20214											
NEB	4703	broad.mit.edu	37	chr2	152359340	152359340	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcttgattgcgtttgactctCtccatctctggagtgatagg	6	16	10	9	1	3	3	0	3	3	0	6	4	4	4	1	2	1	1	1	2	1	4			TCGA-VP-A87E-01A-31D-A34U-08	TCGA-VP-A87E-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eae221e0-1a67-4302-a04a-10195507d23b	a73d17ac-6872-4b3d-a945-212f2a20d843	g.chr2:152359340C>T	ENST00000172853.10	-	139	18939	c.18792G>A	c.(18790-18792)gaG>gaA	p.E6264E	NEB_ENST00000604864.1_Silent_p.E7965E|NEB_ENST00000409198.1_Silent_p.E6264E|NEB_ENST00000427231.2_Silent_p.E7965E|NEB_ENST00000509223.2_Intron|NEB_ENST00000498015.2_Intron|NEB_ENST00000397336.2_Silent_p.E2E|NEB_ENST00000397345.3_Silent_p.E7965E|NEB_ENST00000603639.1_Silent_p.E7965E			P20929	NEBU_HUMAN	nebulin	6264					muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		GTTTGACTCTCTCCATCTCTG	0.353																																						ENST00000427231.2																			0				NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301						c.(23893-23895)gaG>gaA		nebulin							70	62	64					2																	152359340		1807	4067	5874	SO:0001819	synonymous_variant	4703				muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle	g.chr2:152359340C>T	X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"nemaline myopathy type 2"	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.18792G>A	2.37:g.152359340C>T						NEB_ENST00000509223.2_Intron|NEB_ENST00000409198.1_Silent_p.E6264E|NEB_ENST00000172853.10_Silent_p.E6264E|NEB_ENST00000397336.2_Silent_p.E2E|NEB_ENST00000603639.1_Silent_p.E7965E|NEB_ENST00000604864.1_Silent_p.E7965E|NEB_ENST00000397345.3_Silent_p.E7965E|NEB_ENST00000498015.2_Intron	p.E7965E	NM_001164507.1	NP_001157979.1	P20929	NEBU_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.219)	167	24097	-			6264					F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Silent	SNP	ENST00000172853.10	37	c.23895G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	7.915|7.915	0.737413|0.737413	0.15574|0.15574	.|.	.|.	ENSG00000183091|ENSG00000183091	ENST00000421461|ENST00000397337	T|.	0.46451|.	0.87|.	5.57|5.57	5.57|5.57	0.84162|0.84162	.|.	0.233453|.	0.47852|.	D|.	0.000219|.	T|T	0.76227|0.76227	0.3958|0.3958	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.74402|0.74402	-0.3677|-0.3677	6|4	.|.	.|.	.|.	.|.	19.5437|19.5437	0.95283|0.95283	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	K|K	142|161	ENSP00000408570:E142K|.	.|.	E|R	-|-	1|2	0|0	NEB|NEB	152067586|152067586	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.987000|0.987000	0.75469|0.75469	5.501000|5.501000	0.66950|0.66950	2.615000|2.615000	0.88500|0.88500	0.650000|0.650000	0.86243|0.86243	GAG|AGA		0.353	NEB-201	KNOWN	basic	protein_coding	protein_coding		NM_004543		3	31	0	0	0	1	0	3	31					T	152359340	C	T	152359340	2	4	417	1	0	0	0	0	0	0	0	1	10302	912	32	3		3	NEB	2	152359340	Silent	SNP	C	TCGA-VP-A87E-01A-31D-A34U-08		152359340	90840033	3	20215											
LGSN	51557	broad.mit.edu	37	chr6	63990019	63990019	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcaacaaaatatcgaataaaGgtttctcctagagcctgtct	14	11	7	9	1	2	1	0	0	2	1	4	2	2	1	2	1	2	2	2	1	8	4			TCGA-VP-A87E-01A-31D-A34U-08	TCGA-VP-A87E-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eae221e0-1a67-4302-a04a-10195507d23b	a73d17ac-6872-4b3d-a945-212f2a20d843	g.chr6:63990019G>A	ENST00000370657.4	-	4	1470	c.1437C>T	c.(1435-1437)acC>acT	p.T479T	LGSN_ENST00000370658.5_3'UTR			Q5TDP6	LGSN_HUMAN	lengsin, lens protein with glutamine synthetase domain	479					glutamine biosynthetic process (GO:0006542)	plasma membrane (GO:0005886)	glutamate-ammonia ligase activity (GO:0004356)			NS(1)|endometrium(2)|large_intestine(5)|lung(16)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						ATCGAATAAAGGTTTCTCCTA	0.368																																						ENST00000370657.4																			0				NS(1)|endometrium(2)|large_intestine(5)|lung(16)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						c.(1435-1437)acC>acT		lengsin, lens protein with glutamine synthetase domain	L-Glutamic Acid(DB00142)						75	78	77					6																	63990019		2203	4300	6503	SO:0001819	synonymous_variant	51557				glutamine biosynthetic process		glutamate-ammonia ligase activity	g.chr6:63990019G>A	AF242388	CCDS4964.1, CCDS55027.1	6q12	2013-09-19	2008-09-19	2008-09-19	ENSG00000146166	ENSG00000146166			21016	protein-coding gene	gene with protein product		611470	"glutamate-ammonia ligase (glutamine synthetase) domain containing 1"	GLULD1		12107412	Standard	NM_016571		Approved	LGS	uc003peh.3	Q5TDP6	OTTHUMG00000014946	ENST00000370657.4:c.1437C>T	6.37:g.63990019G>A						LGSN_ENST00000370658.5_3'UTR	p.T479T			Q5TDP6	LGSN_HUMAN			4	1470	-			479					A1L421|Q0PVN9|Q0PVP0|Q9NYJ0	Silent	SNP	ENST00000370657.4	37	c.1437C>T	CCDS4964.1																																																																																				0.368	LGSN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041076.2	NM_016571		5	110	0	0	0	1	0	5	110					A	63990019	G	A	63990019	2	1	417	1	0	0	0	0	0	0	0	1	8759	987	35	3		3	LGSN	6	63990019	Silent	SNP	G	TCGA-VP-A87E-01A-31D-A34U-08		63990019	107125048	4	20216											
GRM1	2911	broad.mit.edu	37	chr6	146720225	146720225	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctaaaaccaatcgtattgcaCgcatcctggctggcagcaag	12	8	9	12	2	0	0	0	0	0	0	2	0	1	0	2	2	3	6	2	2	5	3			TCGA-VP-A87E-01A-31D-A34U-08	TCGA-VP-A87E-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eae221e0-1a67-4302-a04a-10195507d23b	a73d17ac-6872-4b3d-a945-212f2a20d843	g.chr6:146720225C>T	ENST00000282753.1	+	7	2285	c.2050C>T	c.(2050-2052)Cgc>Tgc	p.R684C	GRM1_ENST00000507907.1_Missense_Mutation_p.R684C|GRM1_ENST00000361719.2_Missense_Mutation_p.R684C|GRM1_ENST00000392299.2_Missense_Mutation_p.R684C|GRM1_ENST00000355289.4_Missense_Mutation_p.R684C|GRM1_ENST00000492807.2_Missense_Mutation_p.R684C			Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	684					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|cell death (GO:0008219)|cellular response to electrical stimulus (GO:0071257)|dimeric G-protein coupled receptor signaling pathway (GO:0038042)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|G-protein coupled receptor signaling pathway (GO:0007186)|locomotory behavior (GO:0007626)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of pain (GO:0019233)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|G-protein coupled receptor dimeric complex (GO:0038037)|G-protein coupled receptor homodimeric complex (GO:0038038)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)	p.R684C(3)		NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)		TCGTATTGCACGCATCCTGGC	0.527																																						ENST00000392299.2																			3	Substitution - Missense(3)	p.R684C(3)	lung(2)|central_nervous_system(1)	NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126						c.(2050-2052)Cgc>Tgc		glutamate receptor, metabotropic 1	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)						209	200	203					6																	146720225		2203	4300	6503	SO:0001583	missense	2911				synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	g.chr6:146720225C>T	U31215	CCDS5209.1, CCDS47497.1, CCDS64548.1	6q24	2014-06-12			ENSG00000152822	ENSG00000152822		"GPCR / Class C : Glutamate receptors, metabotropic", "Glutamate receptors"	4593	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 85"	604473				9076744, 9376535	Standard	NM_001278064		Approved	GPRC1A, mGlu1, MGLUR1, PPP1R85	uc010khw.2	Q13255	OTTHUMG00000015752	ENST00000282753.1:c.2050C>T	6.37:g.146720225C>T	ENSP00000282753:p.Arg684Cys					GRM1_ENST00000282753.1_Missense_Mutation_p.R684C|GRM1_ENST00000355289.4_Missense_Mutation_p.R684C|GRM1_ENST00000507907.1_Missense_Mutation_p.R684C|GRM1_ENST00000492807.2_Missense_Mutation_p.R684C|GRM1_ENST00000361719.2_Missense_Mutation_p.R684C	p.R684C			Q13255	GRM1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	8	2520	+		Ovarian(120;0.0387)	684					B9EG79|F8W805|Q13256|Q14757|Q14758|Q5VTF7|Q5VTF8|Q9NU10|Q9UGS9|Q9UGT0	Missense_Mutation	SNP	ENST00000282753.1	37	c.2050C>T	CCDS5209.1	.	.	.	.	.	.	.	.	.	.	C	25.3	4.626940	0.87560	.	.	ENSG00000152822	ENST00000361719;ENST00000392299;ENST00000492807;ENST00000282753;ENST00000355289;ENST00000507907	D;D;D;D;D;D	0.89617	-2.54;-2.54;-2.54;-2.54;-2.54;-2.54	5.51	5.51	0.81932	GPCR, family 3, C-terminal (2);	0.000000	0.85682	D	0.000000	D	0.94847	0.8335	M	0.85859	2.78	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;1.0	D	0.95111	0.8238	10	0.87932	D	0	.	19.4081	0.94656	0.0:1.0:0.0:0.0	.	684;684;684	F8W805;Q13255;Q13255-2	.;GRM1_HUMAN;.	C	684	ENSP00000354896:R684C;ENSP00000376119:R684C;ENSP00000424095:R684C;ENSP00000282753:R684C;ENSP00000347437:R684C;ENSP00000425599:R684C	ENSP00000282753:R684C	R	+	1	0	GRM1	146761918	1.000000	0.71417	0.996000	0.52242	0.994000	0.84299	5.968000	0.70413	2.604000	0.88044	0.585000	0.79938	CGC		0.527	GRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042574.1	NM_000838		18	138	0	0	0	1	0	18	138					T	146720225	C	T	146720225	3	4	417	1	0	0	0	0	1	0	0	0	6796	536	19	1	2076	1	GRM1	6	146720225	Missense_Mutation	SNP	C	TCGA-VP-A87E-01A-31D-A34U-08	82730206	146720225	24394842	5	20217											
GPNMB	10457	broad.mit.edu	37	chr7	23286530	23286530	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcctggctgcaagattgccActtgatgccgccaaacgtga	9	9	10	13	2	0	3	0	2	0	1	1	3	1	3	4	1	4	2	4	1	2	2			TCGA-VP-A87E-01A-31D-A34U-08	TCGA-VP-A87E-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eae221e0-1a67-4302-a04a-10195507d23b	a73d17ac-6872-4b3d-a945-212f2a20d843	g.chr7:23286530A>C	ENST00000381990.2	+	1	215	c.54A>C	c.(52-54)ccA>ccC	p.P18P	GPNMB_ENST00000409458.3_Silent_p.P18P|GPNMB_ENST00000539136.1_Silent_p.P18P|GPNMB_ENST00000453162.2_Silent_p.P18P|GPNMB_ENST00000258733.4_Silent_p.P18P	NM_001005340.1|NM_002510.2	NP_001005340.1|NP_002501.1	Q14956	GPNMB_HUMAN	glycoprotein (transmembrane) nmb	18					bone mineralization (GO:0030282)|cell adhesion (GO:0007155)|negative regulation of cell proliferation (GO:0008285)|osteoblast differentiation (GO:0001649)	cytoplasmic membrane-bounded vesicle (GO:0016023)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	heparin binding (GO:0008201)			breast(5)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(2)|lung(17)|ovary(3)|stomach(2)	41			GBM - Glioblastoma multiforme(13;0.154)			CAAGATTGCCACTTGATGCCG	0.448																																						ENST00000258733.4																			0				breast(5)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(2)|lung(17)|ovary(3)|stomach(2)	41						c.(52-54)ccA>ccC		glycoprotein (transmembrane) nmb							162	173	170					7																	23286530		2203	4300	6503	SO:0001819	synonymous_variant	10457				negative regulation of cell proliferation	melanosome		g.chr7:23286530A>C	X76534	CCDS5380.1, CCDS34610.1	7p	2008-07-18			ENSG00000136235	ENSG00000136235			4462	protein-coding gene	gene with protein product	"transmembrane glycoprotein", "glycoprotein NMB", "glycoprotein nmb-like protein", "osteoactivin"	604368				7814155	Standard	NM_002510		Approved	NMB, HGFIN	uc003swc.3	Q14956	OTTHUMG00000022811	ENST00000381990.2:c.54A>C	7.37:g.23286530A>C						GPNMB_ENST00000381990.2_Silent_p.P18P|GPNMB_ENST00000539136.1_Silent_p.P18P|GPNMB_ENST00000453162.2_Silent_p.P18P|GPNMB_ENST00000409458.3_Silent_p.P18P	p.P18P			Q14956	GPNMB_HUMAN	GBM - Glioblastoma multiforme(13;0.154)		1	349	+			18					A4D155|Q6UVX1|Q8N1A1	Silent	SNP	ENST00000381990.2	37	c.54A>C	CCDS34610.1																																																																																				0.448	GPNMB-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000327152.1	NM_001005340		4	90	0	0	0	1	0	4	90					C	23286530	A	C	23286530	2	2	417	1	0	0	0	0	0	0	0	1	6620	146	6	5		5	GPNMB	7	23286530	Silent	SNP	A	TCGA-VP-A87E-01A-31D-A34U-08		23286530	135852133	6	20218											
PPP1R9A	55607	broad.mit.edu	37	chr7	94898588	94898588	+	Intron	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctaagggtttgagaacgtctTctccagaatcagattctggt	10	13	10	8	1	4	3	1	1	3	3	5	4	4	3	1	2	1	1	1	2	3	4			TCGA-VP-A87E-01A-31D-A34U-08	TCGA-VP-A87E-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eae221e0-1a67-4302-a04a-10195507d23b	a73d17ac-6872-4b3d-a945-212f2a20d843	g.chr7:94898588T>C	ENST00000433881.1	+	12	3289				PPP1R9A_ENST00000340694.4_Intron|PPP1R9A_ENST00000456331.2_Missense_Mutation_p.S943P|PPP1R9A_ENST00000433360.1_Missense_Mutation_p.S965P|PPP1R9A_ENST00000289495.5_Missense_Mutation_p.S925P|PPP1R9A_ENST00000424654.1_Missense_Mutation_p.S943P			Q9ULJ8	NEB1_HUMAN	protein phosphatase 1, regulatory subunit 9A						actin filament organization (GO:0007015)|calcium-mediated signaling (GO:0019722)|neuron projection development (GO:0031175)	cell junction (GO:0030054)|cortical actin cytoskeleton (GO:0030864)|dendritic spine (GO:0043197)|filopodium (GO:0030175)|growth cone (GO:0030426)|synapse (GO:0045202)				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(11)|liver(2)|lung(22)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(8)|urinary_tract(5)	71	all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09)		STAD - Stomach adenocarcinoma(171;0.0031)			GAGAACGTCTTCTCCAGAATC	0.433										HNSCC(28;0.073)																												ENST00000289495.5																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(11)|liver(2)|lung(22)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(8)|urinary_tract(5)	71						c.(2773-2775)Tct>Cct		protein phosphatase 1, regulatory subunit 9A							79	71	74					7																	94898588		1568	3581	5149	SO:0001627	intron_variant	55607					cell junction|synapse|synaptosome	actin binding	g.chr7:94898588T>C	AB033048	CCDS34683.1, CCDS55127.1, CCDS55128.1	7q21.3	2013-01-10	2011-10-04		ENSG00000158528	ENSG00000158528		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "Sterile alpha motif (SAM) domain containing"	14946	protein-coding gene	gene with protein product		602468	"protein phosphatase 1, regulatory (inhibitor) subunit 9A"			10574462	Standard	NM_001166160		Approved	Neurabin-I, KIAA1222, FLJ20068	uc010lfj.3	Q9ULJ8	OTTHUMG00000155566	ENST00000433881.1:c.2757+569T>C	7.37:g.94898588T>C		HNSCC(28;0.073)				PPP1R9A_ENST00000424654.1_Missense_Mutation_p.S943P|PPP1R9A_ENST00000433360.1_Missense_Mutation_p.S965P|PPP1R9A_ENST00000456331.2_Missense_Mutation_p.S943P|PPP1R9A_ENST00000340694.4_Intron|PPP1R9A_ENST00000433881.1_Intron	p.S925P	NM_001166161.1	NP_001159633.1	Q9ULJ8	NEB1_HUMAN	STAD - Stomach adenocarcinoma(171;0.0031)		12	2989	+	all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09)		925			Interacts with TGN38 (By similarity).		A1L494|B2RWQ1|E9PCA0|E9PCK6|E9PDX1|F8W7J9|O76059|Q9NXT2	Missense_Mutation	SNP	ENST00000433881.1	37	c.2773T>C	CCDS34683.1	.	.	.	.	.	.	.	.	.	.	T	15.44	2.834237	0.50951	.	.	ENSG00000158528	ENST00000433360;ENST00000424654;ENST00000289495;ENST00000456331	T;T;T;T	0.19669	2.24;2.18;2.13;2.18	4.31	4.31	0.51392	.	.	.	.	.	T	0.28234	0.0697	N	0.14661	0.345	0.31327	N	0.685297	B;D;D;D	0.71674	0.058;0.986;0.998;0.998	B;P;D;D	0.78314	0.015;0.736;0.991;0.991	T	0.13764	-1.0497	9	0.41790	T	0.15	.	13.0709	0.59061	0.0:0.0:0.0:1.0	.	925;965;943;943	F8W7J9;E9PDX1;D6W5R0;E9PCK6	.;.;.;.	P	965;943;925;943	ENSP00000405514:S965P;ENSP00000411342:S943P;ENSP00000289495:S925P;ENSP00000402893:S943P	ENSP00000289495:S925P	S	+	1	0	PPP1R9A	94736524	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	3.444000	0.52914	2.168000	0.68352	0.477000	0.44152	TCT		0.433	PPP1R9A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340662.1	NM_001166160		6	34	0	0	0	1	0	6	34					C	94898588	T	C	94898588	1	2	417	0	1	0	0	0	0	0	0	0	12378	1783	62	4		4	PPP1R9A	7	94898588	Intron	SNP	T	TCGA-VP-A87E-01A-31D-A34U-08	71612058	94898588	64240075	7	20219											
MATN2	4147	broad.mit.edu	37	chr8	99030231	99030231	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgtcttcagggaaagatgTctgccaagctatagaccatg	11	10	10	10	0	3	2	1	0	2	2	3	3	3	3	3	1	2	1	3	1	4	3			TCGA-VP-A87E-01A-31D-A34U-08	TCGA-VP-A87E-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eae221e0-1a67-4302-a04a-10195507d23b	a73d17ac-6872-4b3d-a945-212f2a20d843	g.chr8:99030231T>G	ENST00000520016.1	+	11	1830	c.1706T>G	c.(1705-1707)gTc>gGc	p.V569G	MATN2_ENST00000254898.5_Missense_Mutation_p.V569G|MATN2_ENST00000524308.1_Missense_Mutation_p.V528G|MATN2_ENST00000522025.2_Missense_Mutation_p.V285G|MATN2_ENST00000521689.1_Missense_Mutation_p.V569G			O00339	MATN2_HUMAN	matrilin 2	569	EGF-like 9. {ECO:0000255|PROSITE- ProRule:PRU00076}.					proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)			breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(17)|ovary(2)|urinary_tract(1)	31	Breast(36;1.43e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.244)			GGGAAAGATGTCTGCCAAGCT	0.488																																						ENST00000254898.5																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(17)|ovary(2)|urinary_tract(1)	31						c.(1705-1707)gTc>gGc		matrilin 2							266	272	270					8																	99030231		2075	4212	6287	SO:0001583	missense	4147					proteinaceous extracellular matrix	calcium ion binding	g.chr8:99030231T>G	U69263	CCDS55264.1, CCDS55265.1	8q22.1-q22.2	2008-05-15							6908	protein-coding gene	gene with protein product		602108				9083061, 11852232	Standard	XM_005250920		Approved		uc003yic.3	O00339		ENST00000520016.1:c.1706T>G	8.37:g.99030231T>G	ENSP00000430487:p.Val569Gly					MATN2_ENST00000522025.2_Missense_Mutation_p.V285G|MATN2_ENST00000524308.1_Missense_Mutation_p.V528G|MATN2_ENST00000521689.1_Missense_Mutation_p.V569G|MATN2_ENST00000520016.1_Missense_Mutation_p.V569G	p.V569G	NM_002380.3|NM_030583.2	NP_002371.3|NP_085072.2	O00339	MATN2_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.244)		12	1937	+	Breast(36;1.43e-06)		569			EGF-like 9.		A8K106|E7EW74|E9PD48|E9PGL2|Q6UWA5|Q7Z5X1|Q8NDE6|Q96FT5|Q9NSZ1	Missense_Mutation	SNP	ENST00000520016.1	37	c.1706T>G	CCDS55264.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	12.44|12.44	1.938363|1.938363	0.34189|0.34189	.|.	.|.	ENSG00000132561|ENSG00000132561	ENST00000518154;ENST00000517321|ENST00000521689;ENST00000254898;ENST00000378716;ENST00000524308;ENST00000522025;ENST00000520016	.|D;T;D;D;T	.|0.83419	.|-1.7;-0.85;-1.72;-1.68;-0.82	4.9|4.9	4.9|4.9	0.64082|0.64082	.|Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	.|0.469265	.|0.20081	.|N	.|0.099645	T|T	0.70263|0.70263	0.3204|0.3204	N|N	0.16743|0.16743	0.435|0.435	0.53005|0.53005	D|D	0.99996|0.99996	.|B;B;P;B	.|0.36959	.|0.097;0.097;0.575;0.194	.|B;B;B;B	.|0.32980	.|0.075;0.075;0.156;0.075	T|T	0.70487|0.70487	-0.4858|-0.4858	5|10	.|0.29301	.|T	.|0.29	-20.5212|-20.5212	14.9881|14.9881	0.71365|0.71365	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|528;569;569;569	.|C9JH87;E9PF03;O00339-2;O00339	.|.;.;.;MATN2_HUMAN	W|G	351;43|569;569;528;528;285;569	.|ENSP00000429977:V569G;ENSP00000254898:V569G;ENSP00000430221:V528G;ENSP00000429010:V285G;ENSP00000430487:V569G	.|ENSP00000254898:V569G	C|V	+|+	3|2	2|0	MATN2|MATN2	99099407|99099407	0.957000|0.957000	0.32711|0.32711	0.997000|0.997000	0.53966|0.53966	0.981000|0.981000	0.71138|0.71138	2.785000|2.785000	0.47782|0.47782	2.174000|2.174000	0.68829|0.68829	0.533000|0.533000	0.62120|0.62120	TGT|GTC		0.488	MATN2-004	KNOWN	non_canonical_conserved|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000380332.1			9	251	0	0	0	1	0	9	251					G	99030231	T	G	99030231	3	3	417	1	0	0	0	0	1	0	0	0	9334	1667	58	5	1748	5	MATN2	8	99030231	Missense_Mutation	SNP	T	TCGA-VP-A87E-01A-31D-A34U-08		99030231	47333791	8	20220											
OC90	729330	broad.mit.edu	37	chr8	133053842	133053842	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	accatagtcttcaaagtctcGggggcagagaccagccacac	12	6	10	13	1	3	1	1	0	2	1	4	2	3	1	3	2	1	1	3	2	2	2			TCGA-VP-A87E-01A-31D-A34U-08	TCGA-VP-A87E-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eae221e0-1a67-4302-a04a-10195507d23b	a73d17ac-6872-4b3d-a945-212f2a20d843	g.chr8:133053842G>A	ENST00000443356.2	-	5	360	c.274C>T	c.(274-276)Cga>Tga	p.R92*	OC90_ENST00000254627.3_Nonsense_Mutation_p.R92*|OC90_ENST00000603859.1_Nonsense_Mutation_p.R92*|OC90_ENST00000262283.5_Nonsense_Mutation_p.R288*			Q02509	OC90_HUMAN	otoconin 90	92	Phospholipase A2-like 1.				lipid catabolic process (GO:0016042)|phospholipid metabolic process (GO:0006644)	extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|phospholipase A2 activity (GO:0004623)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(23)|ovary(2)|prostate(1)|skin(1)	37	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000805)			TCAAAGTCTCGGGGGCAGAGA	0.532																																						ENST00000262283.5																			0				NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(23)|ovary(2)|prostate(1)|skin(1)	37						c.(862-864)Cga>Tga		otoconin 90							46	47	47					8																	133053842		2004	4171	6175	SO:0001587	stop_gained	729330				lipid catabolic process|phospholipid metabolic process		calcium ion binding|phospholipase A2 activity	g.chr8:133053842G>A	Z14310	CCDS47919.1	8q24.22	2011-03-01			ENSG00000253117	ENSG00000253117			8100	protein-coding gene	gene with protein product		601658		PLA2L		10329003, 9860971	Standard	NM_001080399		Approved		uc011lix.1	Q02509	OTTHUMG00000164672	ENST00000443356.2:c.274C>T	8.37:g.133053842G>A	ENSP00000390050:p.Arg92*					OC90_ENST00000603859.1_Nonsense_Mutation_p.R92*|OC90_ENST00000254627.3_Nonsense_Mutation_p.R92*|OC90_ENST00000443356.2_Nonsense_Mutation_p.R92*	p.R288*			Q02509	OC90_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000805)		8	961	-	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		92					B4DNG8	Nonsense_Mutation	SNP	ENST00000443356.2	37	c.862C>T		.	.	.	.	.	.	.	.	.	.	G	37	6.561141	0.97663	.	.	ENSG00000253117;ENSG00000253117;ENSG00000258417	ENST00000254627;ENST00000443356;ENST00000262283	.	.	.	5.61	4.66	0.58398	.	0.204155	0.39909	N	0.001230	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-24.1919	10.4475	0.44503	0.0:0.0:0.7101:0.2899	.	.	.	.	X	92;92;288	.	ENSP00000254627:R92X	R	-	1	2	RP11-240B13.2;OC90	133123024	1.000000	0.71417	0.999000	0.59377	0.993000	0.82548	1.781000	0.38644	2.641000	0.89580	0.591000	0.81541	CGA		0.532	OC90-201	KNOWN	basic	protein_coding	protein_coding		NM_001080399		3	49	0	0	0	1	0	3	49					A	133053842	G	A	133053842	4	1	417	1	0	0	0	0	0	1	0	0	10814	1124	39	2	1199	2	OC90	8	133053842	Nonsense_Mutation	SNP	G	TCGA-VP-A87E-01A-31D-A34U-08	34023611	133053842	13310180	9	20221											
OR2S2	56656	broad.mit.edu	37	chr9	35957215	35957215	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tcctcaggctatagatgatgGggttgagcatcggggtcacc	8	10	14	9	1	2	3	2	2	0	1	4	3	3	3	2	5	1	3	2	5	2	3			TCGA-VP-A87E-01A-31D-A34U-08	TCGA-VP-A87E-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eae221e0-1a67-4302-a04a-10195507d23b	a73d17ac-6872-4b3d-a945-212f2a20d843	g.chr9:35957215G>C	ENST00000341959.2	-	1	936	c.881C>G	c.(880-882)cCc>cGc	p.P294R		NM_019897.2	NP_063950.2	Q9NQN1	OR2S1_HUMAN	olfactory receptor, family 2, subfamily S, member 2	294					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(8)|ovary(1)|skin(1)|stomach(1)	17			LUSC - Lung squamous cell carcinoma(32;0.00613)|STAD - Stomach adenocarcinoma(86;0.194)			ATAGATGATGGGGTTGAGCAT	0.517																																					Pancreas(172;293 2036 17878 24427 30946)	ENST00000341959.2																			0				central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(8)|ovary(1)|skin(1)|stomach(1)	17						c.(880-882)cCc>cGc		olfactory receptor, family 2, subfamily S, member 2							94	91	92					9																	35957215		2203	4300	6503	SO:0001583	missense	56656				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:35957215G>C	AL135841	CCDS6596.2	9p13.3	2012-08-09			ENSG00000122718	ENSG00000122718		"GPCR / Class A : Olfactory receptors"	8276	protein-coding gene	gene with protein product							Standard	NM_019897		Approved		uc011lpi.2	Q9NQN1	OTTHUMG00000019891	ENST00000341959.2:c.881C>G	9.37:g.35957215G>C	ENSP00000344040:p.Pro294Arg						p.P294R	NM_019897.2	NP_063950.2	Q9NQN1	OR2S1_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00613)|STAD - Stomach adenocarcinoma(86;0.194)		1	936	-			294					Q2M3L0|Q6IF19|Q96R42	Missense_Mutation	SNP	ENST00000341959.2	37	c.881C>G	CCDS6596.2	.	.	.	.	.	.	.	.	.	.	G	9.787	1.176824	0.21704	.	.	ENSG00000122718	ENST00000341959	T	0.64085	-0.08	4.17	1.26	0.21427	GPCR, rhodopsin-like superfamily (1);	0.000000	0.50627	D	0.000120	T	0.75125	0.3807	H	0.94964	3.605	0.25607	N	0.98654	P	0.49253	0.921	P	0.53593	0.73	T	0.67604	-0.5628	10	0.87932	D	0	.	4.7943	0.13265	0.199:0.0:0.628:0.173	.	294	Q9NQN1	OR2S1_HUMAN	R	294	ENSP00000344040:P294R	ENSP00000344040:P294R	P	-	2	0	OR2S2	35947215	1.000000	0.71417	0.999000	0.59377	0.046000	0.14306	3.904000	0.56325	0.274000	0.22072	-0.136000	0.14681	CCC		0.517	OR2S2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052400.2	NM_019897		4	115	0	0	0	1	0	4	115					C	35957215	G	C	35957215	3	2	417	1	0	0	0	0	1	0	0	0	11015	1232	43	5	82	5	OR2S2	9	35957215	Missense_Mutation	SNP	G	TCGA-VP-A87E-01A-31D-A34U-08		35957215	105256216	10	20222											
ITGA8	8516	broad.mit.edu	37	chr10	15655705	15655705	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aacctggcaagttttattttCaagattgataatcattgggt	12	16	8	5	0	2	2	2	1	0	1	2	2	2	2	1	2	1	2	1	2	5	7			TCGA-VP-A87E-01A-31D-A34U-08	TCGA-VP-A87E-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eae221e0-1a67-4302-a04a-10195507d23b	a73d17ac-6872-4b3d-a945-212f2a20d843	g.chr10:15655705C>T	ENST00000378076.3	-	15	1860	c.1507G>A	c.(1507-1509)Gaa>Aaa	p.E503K		NM_003638.1	NP_003629	P53708	ITA8_HUMAN	integrin, alpha 8	503					brain development (GO:0007420)|cell projection organization (GO:0030030)|cell-matrix adhesion (GO:0007160)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|integrin-mediated signaling pathway (GO:0007229)|kidney development (GO:0001822)|memory (GO:0007613)|mesodermal cell differentiation (GO:0048333)|metanephros development (GO:0001656)|positive regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation (GO:2000721)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|single organismal cell-cell adhesion (GO:0016337)|smooth muscle tissue development (GO:0048745)|substrate adhesion-dependent cell spreading (GO:0034446)	apical part of cell (GO:0045177)|cell surface (GO:0009986)|dendritic spine membrane (GO:0032591)|endoplasmic reticulum (GO:0005783)|focal adhesion (GO:0005925)|integrin alpha8-beta1 complex (GO:0034678)|integrin complex (GO:0008305)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	metal ion binding (GO:0046872)			NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						GTTTTATTTTCAAGATTGATA	0.453																																						ENST00000378076.3																			0				NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						c.(1507-1509)Gaa>Aaa		integrin, alpha 8							126	132	130					10																	15655705		2203	4300	6503	SO:0001583	missense	8516				cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development	integrin complex	receptor activity	g.chr10:15655705C>T	L36531	CCDS31155.1	10p13	2010-03-23			ENSG00000077943	ENSG00000077943		"Integrins"	6144	protein-coding gene	gene with protein product		604063				7768999	Standard	XM_005252633		Approved		uc001ioc.1	P53708	OTTHUMG00000017733	ENST00000378076.3:c.1507G>A	10.37:g.15655705C>T	ENSP00000367316:p.Glu503Lys						p.E503K	NM_003638.1	NP_003629.1	P53708	ITA8_HUMAN			15	1860	-			503					B0YJ31|Q5VX94	Missense_Mutation	SNP	ENST00000378076.3	37	c.1507G>A	CCDS31155.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.324961	0.81580	.	.	ENSG00000077943	ENST00000378076;ENST00000538044	T	0.60171	0.21	5.38	5.38	0.77491	Integrin alpha-2 (1);	0.193643	0.53938	D	0.000043	T	0.73536	0.3599	M	0.79693	2.465	0.58432	D	0.999996	D;D	0.56746	0.971;0.977	P;P	0.57152	0.716;0.814	T	0.75795	-0.3192	10	0.48119	T	0.1	.	17.3176	0.87228	0.0:1.0:0.0:0.0	.	488;503	F5H818;P53708	.;ITA8_HUMAN	K	503;488	ENSP00000367316:E503K	ENSP00000367316:E503K	E	-	1	0	ITGA8	15695711	1.000000	0.71417	0.982000	0.44146	0.410000	0.31052	5.650000	0.67944	2.524000	0.85096	0.467000	0.42956	GAA		0.453	ITGA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046987.1	NM_003638		5	129	0	0	0	1	0	5	129					T	15655705	C	T	15655705	3	4	417	1	0	0	0	0	1	0	0	0	7882	835	29	3	1748	3	ITGA8	10	15655705	Missense_Mutation	SNP	C	TCGA-VP-A87E-01A-31D-A34U-08		15655705	119879042	11	20223											
ANKRD26	22852	broad.mit.edu	37	chr10	27324083	27324083	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	actgtgtttggcttaggtccTtttgtacccgttctaaaccc	6	16	8	11	1	1	0	0	0	1	0	2	0	2	0	3	2	2	4	3	2	4	7			TCGA-VP-A87E-01A-31D-A34U-08	TCGA-VP-A87E-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eae221e0-1a67-4302-a04a-10195507d23b	a73d17ac-6872-4b3d-a945-212f2a20d843	g.chr10:27324083T>C	ENST00000376087.4	-	24	3461	c.3296A>G	c.(3295-3297)aAg>aGg	p.K1099R	ANKRD26_ENST00000376070.3_Missense_Mutation_p.K656R|ANKRD26_ENST00000436985.2_Missense_Mutation_p.K1115R	NM_001256053.1|NM_014915.2	NP_001242982.1|NP_055730.2	Q9UPS8	ANR26_HUMAN	ankyrin repeat domain 26	1098					glucose homeostasis (GO:0042593)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of organ growth (GO:0046621)|regulation of fatty acid metabolic process (GO:0019217)|regulation of feeding behavior (GO:0060259)	actin filament (GO:0005884)|centrosome (GO:0005813)				breast(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|urinary_tract(2)	70						GCTTAGGTCCTTTTGTACCCG	0.363																																						ENST00000376087.4																			0				breast(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|urinary_tract(2)	70						c.(3295-3297)aAg>aGg		ankyrin repeat domain 26							140	136	137					10																	27324083		1865	4106	5971	SO:0001583	missense	22852					centrosome		g.chr10:27324083T>C	AB028997	CCDS41499.1	10p12.1	2014-09-17			ENSG00000107890	ENSG00000107890		"Ankyrin repeat domain containing"	29186	protein-coding gene	gene with protein product		610855	"thrombocytopenia 2 (autosomal dominant)"	THC2		10470851, 21211618	Standard	NM_014915		Approved	KIAA1074	uc009xku.1	Q9UPS8	OTTHUMG00000017851	ENST00000376087.4:c.3296A>G	10.37:g.27324083T>C	ENSP00000365255:p.Lys1099Arg					ANKRD26_ENST00000376070.3_Missense_Mutation_p.K656R|ANKRD26_ENST00000436985.2_Missense_Mutation_p.K1115R	p.K1099R	NM_001256053.1|NM_014915.2	NP_001242982.1|NP_055730.2	Q9UPS8	ANR26_HUMAN			24	3461	-			1098					A6NH29|Q2TAZ3|Q6ZR14|Q9H1Q1|Q9NSK9|Q9NTD5|Q9NW69	Missense_Mutation	SNP	ENST00000376087.4	37	c.3296A>G	CCDS41499.1	.	.	.	.	.	.	.	.	.	.	T	0.068	-1.209452	0.01568	.	.	ENSG00000107890	ENST00000376070;ENST00000376087;ENST00000436985	T;T;T	0.10763	2.84;2.84;2.84	5.43	0.208	0.15221	.	0.100084	0.40818	N	0.001006	T	0.01222	0.0040	N	0.00071	-2.275	0.21290	N	0.999738	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.40683	-0.9550	10	0.02654	T	1	.	2.9165	0.05754	0.1349:0.4517:0.2617:0.1517	.	1099;1098;1115	Q9UPS8-3;Q9UPS8;A1L497	.;ANR26_HUMAN;.	R	656;1099;1115	ENSP00000365238:K656R;ENSP00000365255:K1099R;ENSP00000405112:K1115R	ENSP00000365238:K656R	K	-	2	0	ANKRD26	27364089	1.000000	0.71417	0.000000	0.03702	0.557000	0.35523	1.922000	0.40045	-0.230000	0.09840	-1.286000	0.01371	AAG		0.363	ANKRD26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047296.1			4	181	0	0	0	1	0	4	181					C	27324083	T	C	27324083	3	2	417	1	0	0	0	0	1	0	0	0	654	1609	56	4	1880	4	ANKRD26	10	27324083	Missense_Mutation	SNP	T	TCGA-VP-A87E-01A-31D-A34U-08	11668378	27324083	108210664	12	20224											
FAM13C	220965	broad.mit.edu	37	chr10	61083780	61083780	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcactgtttcttggcacttGaaggcattgttttgtggact	6	16	11	8	1	1	1	0	1	1	0	1	2	1	2	0	3	0	5	0	3	1	6			TCGA-VP-A87E-01A-31D-A34U-08	TCGA-VP-A87E-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eae221e0-1a67-4302-a04a-10195507d23b	a73d17ac-6872-4b3d-a945-212f2a20d843	g.chr10:61083780G>T	ENST00000373868.2	-	4	498	c.411C>A	c.(409-411)ttC>ttA	p.F137L	FAM13C_ENST00000419214.2_Missense_Mutation_p.F137L|FAM13C_ENST00000422313.2_Missense_Mutation_p.F137L|FAM13C_ENST00000510215.2_5'UTR|FAM13C_ENST00000442566.3_Missense_Mutation_p.F137L|FAM13C_ENST00000277705.6_Missense_Mutation_p.F137L|FAM13C_ENST00000435852.2_Missense_Mutation_p.F137L|FAM13C_ENST00000468840.2_Missense_Mutation_p.F54L|FAM13C_ENST00000373867.3_Missense_Mutation_p.F54L	NM_198215.3	NP_937858.2	Q8NE31	FA13C_HUMAN	family with sequence similarity 13, member C	137										NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						CTTGGCACTTGAAGGCATTGT	0.488																																						ENST00000373867.3																			0				NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						c.(160-162)ttC>ttA		family with sequence similarity 13, member C							401	340	361					10																	61083780		2203	4300	6503	SO:0001583	missense	220965							g.chr10:61083780G>T	U79304	CCDS31207.1, CCDS44406.1, CCDS7255.1, CCDS53538.1	10q21	2009-09-15	2009-01-20	2009-01-20	ENSG00000148541	ENSG00000148541			19371	protein-coding gene	gene with protein product			"family with sequence similarity 13, member C1"	FAM13C1			Standard	NM_001001971		Approved		uc001jkn.3	Q8NE31	OTTHUMG00000018277	ENST00000373868.2:c.411C>A	10.37:g.61083780G>T	ENSP00000362975:p.Phe137Leu					FAM13C_ENST00000373868.2_Missense_Mutation_p.F137L|FAM13C_ENST00000442566.3_Missense_Mutation_p.F137L|FAM13C_ENST00000419214.2_Missense_Mutation_p.F137L|FAM13C_ENST00000510215.2_5'UTR|FAM13C_ENST00000277705.6_Missense_Mutation_p.F137L|FAM13C_ENST00000468840.2_Missense_Mutation_p.F54L|FAM13C_ENST00000422313.2_Missense_Mutation_p.F137L|FAM13C_ENST00000435852.2_Missense_Mutation_p.F137L	p.F54L	NM_001166698.1	NP_001160170.1	Q8NE31	FA13C_HUMAN			5	627	-			137					B7ZB77|Q5T631|Q6P2M3|Q99787	Missense_Mutation	SNP	ENST00000373868.2	37	c.162C>A	CCDS7255.1	.	.	.	.	.	.	.	.	.	.	G	16.30	3.085489	0.55861	.	.	ENSG00000148541	ENST00000373867;ENST00000373868;ENST00000442566;ENST00000277705;ENST00000419214;ENST00000468840;ENST00000435852;ENST00000422313	T;T;T;T;T;T	0.77489	0.94;-1.1;-1.1;0.91;0.94;0.94	5.96	4.13	0.48395	.	0.376195	0.25668	N	0.029094	T	0.72187	0.3429	L	0.56769	1.78	0.30045	N	0.8123	B;B;B;B;B	0.34290	0.005;0.001;0.003;0.447;0.003	B;B;B;B;B	0.36378	0.006;0.004;0.006;0.223;0.004	T	0.67734	-0.5594	10	0.33940	T	0.23	-7.7726	8.9811	0.35966	0.1679:0.0:0.8321:0.0	.	137;54;137;137;137	B7Z2K3;B7ZB77;Q8NE31-2;Q8NE31-3;Q8NE31	.;.;.;.;FA13C_HUMAN	L	54;137;137;137;137;54;137;137	ENSP00000362975:F137L;ENSP00000395661:F137L;ENSP00000277705:F137L;ENSP00000391993:F137L;ENSP00000392302:F137L;ENSP00000400241:F137L	ENSP00000277705:F137L	F	-	3	2	FAM13C	60753786	1.000000	0.71417	0.830000	0.32933	0.964000	0.63967	1.883000	0.39658	0.867000	0.35654	0.650000	0.86243	TTC		0.488	FAM13C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048162.2			7	193	1	0	0.000157383	1	0.000169187	7	193					T	61083780	G	T	61083780	3	4	417	1	0	0	0	0	1	0	0	0	5454	1281	45	5	1390	5	FAM13C	10	61083780	Missense_Mutation	SNP	G	TCGA-VP-A87E-01A-31D-A34U-08	33759697	61083780	74450967	13	20225											
STOX1	219736	broad.mit.edu	37	chr10	70645938	70645938	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttgagtctcaggtgcttaaaAgaaatgaatgctacaaaccc	15	10	8	8	0	1	3	1	2	1	1	2	3	1	3	1	1	4	2	1	1	6	3			TCGA-VP-A87E-01A-31D-A34U-08	TCGA-VP-A87E-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eae221e0-1a67-4302-a04a-10195507d23b	a73d17ac-6872-4b3d-a945-212f2a20d843	g.chr10:70645938A>G	ENST00000298596.6	+	3	2469	c.2386A>G	c.(2386-2388)Aga>Gga	p.R796G	STOX1_ENST00000399165.4_Intron|STOX1_ENST00000421961.2_Missense_Mutation_p.R686G|STOX1_ENST00000399162.2_Intron|STOX1_ENST00000399169.4_Missense_Mutation_p.R796G	NM_152709.4	NP_689922.3	Q6ZVD7	STOX1_HUMAN	storkhead box 1	796						cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(5)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|prostate(1)|skin(3)	28						GGTGCTTAAAAGAAATGAATG	0.468																																						ENST00000298596.6																			0				breast(5)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|prostate(1)|skin(3)	28						c.(2386-2388)Aga>Gga		storkhead box 1							80	82	82					10																	70645938		1891	4120	6011	SO:0001583	missense	219736					cytoplasm|nucleolus	DNA binding	g.chr10:70645938A>G	AK057891	CCDS41535.1, CCDS44416.1, CCDS44417.1	10q22.1	2005-11-29	2005-04-04	2005-04-04	ENSG00000165730	ENSG00000165730			23508	protein-coding gene	gene with protein product		609397	"chromosome 10 open reading frame 24"	C10orf24			Standard	NM_152709		Approved	FLJ25162	uc001joq.3	Q6ZVD7	OTTHUMG00000018367	ENST00000298596.6:c.2386A>G	10.37:g.70645938A>G	ENSP00000298596:p.Arg796Gly					STOX1_ENST00000399169.4_Missense_Mutation_p.R796G|STOX1_ENST00000399165.4_Intron|STOX1_ENST00000421961.2_Missense_Mutation_p.R686G|STOX1_ENST00000399162.2_Intron	p.R796G	NM_152709.4	NP_689922.3	Q6ZVD7	STOX1_HUMAN			3	2469	+			796					A2A3Q9|A5D6Y7|B0QZA4|B0QZA5|B0QZA6|Q4F8Q6|Q5I946|Q5I947|Q5I948|Q5VX38|Q5VX39|Q6ZRY3|Q96LR3|Q96LS0	Missense_Mutation	SNP	ENST00000298596.6	37	c.2386A>G	CCDS41535.1	.	.	.	.	.	.	.	.	.	.	A	0.375	-0.932069	0.02359	.	.	ENSG00000165730	ENST00000399169;ENST00000298596;ENST00000421961	T;T;T	0.65916	-0.18;-0.18;-0.18	6.17	3.81	0.43845	.	0.864159	0.10661	N	0.648692	T	0.29976	0.0750	N	0.01505	-0.83	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.21999	-1.0229	10	0.11182	T	0.66	.	7.0867	0.25261	0.3541:0.0:0.6459:0.0	.	796	Q6ZVD7	STOX1_HUMAN	G	796;796;686	ENSP00000382121:R796G;ENSP00000298596:R796G;ENSP00000394509:R686G	ENSP00000298596:R796G	R	+	1	2	STOX1	70315944	0.001000	0.12720	0.003000	0.11579	0.505000	0.33919	0.950000	0.29122	1.401000	0.46761	0.533000	0.62120	AGA		0.468	STOX1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276849.3	NM_152709		4	68	0	0	0	1	0	4	68					G	70645938	A	G	70645938	3	3	417	1	0	0	0	0	1	0	0	0	15318	64	3	4	2396	4	STOX1	10	70645938	Missense_Mutation	SNP	A	TCGA-VP-A87E-01A-31D-A34U-08	9562158	70645938	64888809	14	20226											
AKAP11	11215	broad.mit.edu	37	chr13	42875269	42875269	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctcccatatcatatttcatCtactgcatgtcaggccaagg	10	13	6	12	0	5	0	3	0	2	0	6	0	5	0	2	2	2	1	2	2	4	4			TCGA-VP-A87E-01A-31D-A34U-08	TCGA-VP-A87E-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eae221e0-1a67-4302-a04a-10195507d23b	a73d17ac-6872-4b3d-a945-212f2a20d843	g.chr13:42875269C>A	ENST00000025301.2	+	8	2562	c.2387C>A	c.(2386-2388)tCt>tAt	p.S796Y		NM_016248.3	NP_057332.1	Q9UKA4	AKA11_HUMAN	A kinase (PRKA) anchor protein 11	796					intracellular signal transduction (GO:0035556)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	protein kinase A binding (GO:0051018)|protein phosphatase 1 binding (GO:0008157)			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(2)	56		Lung NSC(96;1.86e-05)|Prostate(109;0.0165)|Lung SC(185;0.0262)|Breast(139;0.0707)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;0.000365)|GBM - Glioblastoma multiforme(144;0.00116)|BRCA - Breast invasive adenocarcinoma(63;0.19)		CATATTTCATCTACTGCATGT	0.428																																						ENST00000025301.2																			0				breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(2)	56						c.(2386-2388)tCt>tAt		A kinase (PRKA) anchor protein 11							136	121	126					13																	42875269		2203	4300	6503	SO:0001583	missense	11215				intracellular protein kinase cascade	microtubule organizing center	protein kinase A binding|protein phosphatase 1 binding	g.chr13:42875269C>A	AB014529	CCDS9383.1	13q	2012-04-17			ENSG00000023516	ENSG00000023516		"A-kinase anchor proteins", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	369	protein-coding gene	gene with protein product	"AKAP 220", "A-kinase anchoring protein, 220kDa", "protein kinase A anchoring protein 11", "protein phosphatase 1, regulatory subunit 44"	604696				9734811, 8621616	Standard	NM_016248		Approved	KIAA0629, AKAP220, PRKA11, FLJ11304, DKFZp781I12161, PPP1R44	uc001uys.2	Q9UKA4	OTTHUMG00000016805	ENST00000025301.2:c.2387C>A	13.37:g.42875269C>A	ENSP00000025301:p.Ser796Tyr						p.S796Y	NM_016248.3	NP_057332.1	Q9UKA4	AKA11_HUMAN		OV - Ovarian serous cystadenocarcinoma(117;0.000365)|GBM - Glioblastoma multiforme(144;0.00116)|BRCA - Breast invasive adenocarcinoma(63;0.19)	8	2562	+		Lung NSC(96;1.86e-05)|Prostate(109;0.0165)|Lung SC(185;0.0262)|Breast(139;0.0707)|Hepatocellular(98;0.114)	796					O75124|Q9NUK7	Missense_Mutation	SNP	ENST00000025301.2	37	c.2387C>A	CCDS9383.1	.	.	.	.	.	.	.	.	.	.	C	12.19	1.863418	0.32884	.	.	ENSG00000023516	ENST00000025301	T	0.16597	2.33	6.08	6.08	0.98989	.	0.506157	0.20470	N	0.091708	T	0.37019	0.0988	M	0.67953	2.075	0.25061	N	0.991061	D	0.57571	0.98	P	0.58331	0.837	T	0.18366	-1.0339	10	0.72032	D	0.01	.	15.3887	0.74726	0.1392:0.8608:0.0:0.0	.	796	Q9UKA4	AKA11_HUMAN	Y	796	ENSP00000025301:S796Y	ENSP00000025301:S796Y	S	+	2	0	AKAP11	41773269	0.998000	0.40836	0.079000	0.20413	0.393000	0.30537	2.993000	0.49425	2.894000	0.99253	0.655000	0.94253	TCT		0.428	AKAP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044700.2	NM_016248		7	86	1	0	0.00198382	1	0.00203105	7	86					A	42875269	C	A	42875269	3	1	417	1	0	0	0	0	1	0	0	0	447	913	32	5	2409	5	AKAP11	13	42875269	Missense_Mutation	SNP	C	TCGA-VP-A87E-01A-31D-A34U-08		42875269	72294609	15	20227											
MYH7	4625	broad.mit.edu	37	chr14	23901870	23901870	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtcagcatgtactgataggcGttgtcggagatggagaagat	11	10	15	5	2	1	4	1	1	0	3	2	6	1	4	0	3	2	3	0	3	3	3	rs45500700	byFrequency	TCGA-VP-A87E-01A-31D-A34U-08	TCGA-VP-A87E-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eae221e0-1a67-4302-a04a-10195507d23b	a73d17ac-6872-4b3d-a945-212f2a20d843	g.chr14:23901870G>A	ENST00000355349.3	-	5	642	c.480C>T	c.(478-480)aaC>aaT	p.N160N		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	160	Myosin motor.				adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|myosin complex (GO:0016459)|myosin filament (GO:0032982)|nucleus (GO:0005634)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		ACTGATAGGCGTTGTCGGAGA	0.612													g|||	4	0.000798722	0.003	0	5008	,	,		18553	0		0	False		,,,				2504	0					ENST00000355349.3																			0				NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137						c.(478-480)aaC>aaT		myosin, heavy chain 7, cardiac muscle, beta		A		24,4382	29.9+/-59.1	0,24,2179	108	103	105		480	-6	0.7	14	dbSNP_127	105	6,8594	5.0+/-18.6	0,6,4294	no	coding-synonymous	MYH7	NM_000257.2		0,30,6473	AA,AG,GG		0.0698,0.5447,0.2307		160/1936	23901870	30,12976	2203	4300	6503	SO:0001819	synonymous_variant	4625				adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr14:23901870G>A	M58018	CCDS9601.1	14q11.2-q13	2014-09-17	2006-09-29		ENSG00000092054	ENSG00000092054		"Myosins / Myosin superfamily : Class II"	7577	protein-coding gene	gene with protein product		160760	"myopathy, distal 1", "myosin, heavy polypeptide 7, cardiac muscle, beta"	CMH1, MPD1		2494889, 8483915, 15322983	Standard	XM_005267696		Approved	CMD1S	uc001wjx.3	P12883	OTTHUMG00000028755	ENST00000355349.3:c.480C>T	14.37:g.23901870G>A							p.N160N	NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN		GBM - Glioblastoma multiforme(265;0.00725)	5	642	-	all_cancers(95;2.54e-05)		160			Myosin head-like.		A2TDB6|B6D424|Q14836|Q14837|Q14904|Q16579|Q2M1Y6|Q92679|Q9H1D5|Q9UDA2|Q9UMM8	Silent	SNP	ENST00000355349.3	37	c.480C>T	CCDS9601.1																																																																																				0.612	MYH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071798.3	NM_000257		5	124	0	0	0	1	0	5	124					A	23901870	G	A	23901870	2	1	417	1	0	0	0	0	0	0	0	1	10039	1136	40	1		1	MYH7	14	23901870	Silent	SNP	G	TCGA-VP-A87E-01A-31D-A34U-08		23901870	83447670	16	20228											
MLH3	27030	broad.mit.edu	37	chr14	75514215	75514215	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gtctataccaggggaaagagGgggatgtatcagataatatg	14	9	14	4	0	2	2	1	0	1	2	2	4	2	4	1	4	1	1	1	4	6	5			TCGA-VP-A87E-01A-31D-A34U-08	TCGA-VP-A87E-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eae221e0-1a67-4302-a04a-10195507d23b	a73d17ac-6872-4b3d-a945-212f2a20d843	g.chr14:75514215G>A	ENST00000556740.1	-	1	2179	c.2144C>T	c.(2143-2145)cCc>cTc	p.P715L	MLH3_ENST00000355774.2_Missense_Mutation_p.P715L|MLH3_ENST00000555671.1_5'Flank|MLH3_ENST00000544985.1_5'Flank|MLH3_ENST00000238662.7_Missense_Mutation_p.P715L|MLH3_ENST00000556257.1_Missense_Mutation_p.P715L|MLH3_ENST00000380968.2_5'UTR			Q9UHC1	MLH3_HUMAN	mutL homolog 3	715					ATP catabolic process (GO:0006200)|female meiosis I (GO:0007144)|male meiosis (GO:0007140)|mismatch repair (GO:0006298)|protein localization (GO:0008104)|reciprocal meiotic recombination (GO:0007131)|synaptonemal complex assembly (GO:0007130)	chiasma (GO:0005712)|male germ cell nucleus (GO:0001673)|mismatch repair complex (GO:0032300)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|centromeric DNA binding (GO:0019237)|chromatin binding (GO:0003682)|mismatched DNA binding (GO:0030983)|satellite DNA binding (GO:0003696)|single-stranded DNA binding (GO:0003697)			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	44				BRCA - Breast invasive adenocarcinoma(234;0.00688)		GGGGAAAGAGGGGGATGTATC	0.383								Mismatch excision repair (MMR)																														ENST00000355774.2																			0				breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	44						c.(2143-2145)cCc>cTc	Mismatch excision repair (MMR)	mutL homolog 3							89	89	89					14																	75514215		2203	4300	6503	SO:0001583	missense	27030				mismatch repair|reciprocal meiotic recombination	chiasma|MutLbeta complex|synaptonemal complex	ATP binding|ATPase activity|mismatched DNA binding|protein binding|satellite DNA binding	g.chr14:75514215G>A	AF195657	CCDS9837.1, CCDS32123.1	14q24.3	2014-09-17	2013-09-12			ENSG00000119684			7128	protein-coding gene	gene with protein product		604395	"mutL (E. coli) homolog 3", "mutL homolog 3 (E. coli)"			10615123	Standard	XR_245681		Approved		uc001xrd.1	Q9UHC1		ENST00000556740.1:c.2144C>T	14.37:g.75514215G>A	ENSP00000452316:p.Pro715Leu					MLH3_ENST00000556740.1_Missense_Mutation_p.P715L|MLH3_ENST00000556257.1_Missense_Mutation_p.P715L|MLH3_ENST00000380968.2_5'UTR|MLH3_ENST00000238662.7_Missense_Mutation_p.P715L	p.P715L	NM_001040108.1	NP_001035197.1	Q9UHC1	MLH3_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00688)	2	2359	-			715					P49751|Q56DK9|Q9P292|Q9UHC0	Missense_Mutation	SNP	ENST00000556740.1	37	c.2144C>T	CCDS32123.1	.	.	.	.	.	.	.	.	.	.	G	0	-2.614350	0.00120	.	.	ENSG00000119684	ENST00000355774;ENST00000238662;ENST00000556257;ENST00000556740	T;T;T;T	0.27402	1.67;1.67;1.67;1.67	5.96	3.8	0.43715	.	0.479596	0.21456	N	0.074251	T	0.18759	0.0450	N	0.22421	0.69	0.19300	N	0.999973	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.16808	-1.0390	10	0.14252	T	0.57	-1.7781	11.2462	0.48998	0.0769:0.1308:0.7923:0.0	.	715;715	Q9UHC1-2;Q9UHC1	.;MLH3_HUMAN	L	715	ENSP00000348020:P715L;ENSP00000238662:P715L;ENSP00000451540:P715L;ENSP00000452316:P715L	ENSP00000238662:P715L	P	-	2	0	MLH3	74583968	0.862000	0.29867	0.010000	0.14722	0.038000	0.13279	1.870000	0.39529	1.504000	0.48704	-0.175000	0.13238	CCC		0.383	MLH3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415006.1	NM_014381		11	112	0	0	0	1	0	11	112					A	75514215	G	A	75514215	3	1	417	1	0	0	0	0	1	0	0	0	9618	1232	43	3	2265	3	MLH3	14	75514215	Missense_Mutation	SNP	G	TCGA-VP-A87E-01A-31D-A34U-08	51612345	75514215	31835325	17	20229											
DLL4	54567	broad.mit.edu	37	chr15	41227101	41227101	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atggtctctctccaggaccaGgaggatggctaccactgcct	8	9	11	13	0	2	0	0	0	2	0	4	3	2	3	4	5	2	1	4	5	1	1			TCGA-VP-A87E-01A-31D-A34U-08	TCGA-VP-A87E-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eae221e0-1a67-4302-a04a-10195507d23b	a73d17ac-6872-4b3d-a945-212f2a20d843	g.chr15:41227101G>C	ENST00000249749.5	+	8	1302	c.1026G>C	c.(1024-1026)caG>caC	p.Q342H		NM_019074.3	NP_061947.1	Q9NR61	DLL4_HUMAN	delta-like 4 (Drosophila)	342	EGF-like 4. {ECO:0000255|PROSITE- ProRule:PRU00076}.				angiogenesis (GO:0001525)|blood circulation (GO:0008015)|blood vessel lumenization (GO:0072554)|blood vessel remodeling (GO:0001974)|cardiac atrium morphogenesis (GO:0003209)|cardiac ventricle morphogenesis (GO:0003208)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|dorsal aorta morphogenesis (GO:0035912)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of cell proliferation (GO:0008285)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|patterning of blood vessels (GO:0001569)|pericardium morphogenesis (GO:0003344)|positive regulation of neural precursor cell proliferation (GO:2000179)|regulation of neural retina development (GO:0061074)|regulation of neurogenesis (GO:0050767)|signal transduction (GO:0007165)|ventral spinal cord interneuron fate commitment (GO:0060579)|ventricular trabecula myocardium morphogenesis (GO:0003222)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|Notch binding (GO:0005112)			breast(3)|large_intestine(1)	4		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;1.07e-05)|COAD - Colon adenocarcinoma(120;0.15)|BRCA - Breast invasive adenocarcinoma(123;0.164)		TCCAGGACCAGGAGGATGGCT	0.607																																						ENST00000249749.5																			0				breast(3)|large_intestine(1)	4						c.(1024-1026)caG>caC		delta-like 4 (Drosophila)							61	65	64					15																	41227101		2077	4208	6285	SO:0001583	missense	54567				blood circulation|cell communication|cell differentiation|Notch receptor processing|Notch signaling pathway	integral to membrane|plasma membrane	calcium ion binding|Notch binding	g.chr15:41227101G>C	AF253468	CCDS45232.1	15q14	2008-07-03	2001-12-03			ENSG00000128917			2910	protein-coding gene	gene with protein product		605185	"delta-like 4 homolog (Drosophila)"			10837024	Standard	NM_019074		Approved		uc001zng.2	Q9NR61		ENST00000249749.5:c.1026G>C	15.37:g.41227101G>C	ENSP00000249749:p.Gln342His						p.Q342H	NM_019074.3	NP_061947.1	Q9NR61	DLL4_HUMAN		GBM - Glioblastoma multiforme(113;1.07e-05)|COAD - Colon adenocarcinoma(120;0.15)|BRCA - Breast invasive adenocarcinoma(123;0.164)	8	1302	+		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)	342			EGF-like 4.		Q3KP23|Q9NQT9	Missense_Mutation	SNP	ENST00000249749.5	37	c.1026G>C	CCDS45232.1	.	.	.	.	.	.	.	.	.	.	G	10.17	1.277109	0.23307	.	.	ENSG00000128917	ENST00000249749	T	0.66460	-0.21	5.96	0.657	0.17850	EGF (1);EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	0.488545	0.22918	N	0.054044	T	0.44095	0.1277	N	0.17838	0.53	0.36903	D	0.890529	B	0.02656	0.0	B	0.04013	0.001	T	0.15521	-1.0434	10	0.33141	T	0.24	.	5.5847	0.17267	0.3556:0.0:0.5234:0.1211	.	342	Q9NR61	DLL4_HUMAN	H	342	ENSP00000249749:Q342H	ENSP00000249749:Q342H	Q	+	3	2	DLL4	39014393	1.000000	0.71417	0.565000	0.28409	0.991000	0.79684	1.002000	0.29796	-0.125000	0.11703	0.650000	0.86243	CAG		0.607	DLL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418859.1			4	100	0	0	0	1	0	4	100					C	41227101	G	C	41227101	3	2	417	1	0	0	0	0	1	0	0	0	4568	991	35	5	1056	5	DLL4	15	41227101	Missense_Mutation	SNP	G	TCGA-VP-A87E-01A-31D-A34U-08		41227101	61304291	18	20230											
ZFHX3	463	broad.mit.edu	37	chr16	72845836	72845836	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gatctcctcagctgtttttgGtcgcttcgaagagaggggag	7	12	14	8	2	2	1	1	0	1	1	5	5	2	2	1	3	1	3	1	3	1	3			TCGA-VP-A87E-01A-31D-A34U-08	TCGA-VP-A87E-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eae221e0-1a67-4302-a04a-10195507d23b	a73d17ac-6872-4b3d-a945-212f2a20d843	g.chr16:72845836G>T	ENST00000268489.5	-	6	4303	c.3631C>A	c.(3631-3633)Cca>Aca	p.P1211T	RP5-991G20.2_ENST00000558618.1_RNA|ZFHX3_ENST00000397992.5_Missense_Mutation_p.P297T	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	1211					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|muscle organ development (GO:0007517)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of myoblast differentiation (GO:0045663)|regulation of neuron differentiation (GO:0045664)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	enzyme binding (GO:0019899)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				GCTGTTTTTGGTCGCTTCGAA	0.532																																						ENST00000268489.5																			0				NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153						c.(3631-3633)Cca>Aca		zinc finger homeobox 3							171	176	174					16																	72845836		2198	4300	6498	SO:0001583	missense	463				muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr16:72845836G>T	D10250	CCDS10908.1, CCDS54035.1	16q22.3	2012-03-09	2007-08-09	2007-08-09	ENSG00000140836	ENSG00000140836		"Zinc fingers, C2H2-type", "Homeoboxes / ZF class"	777	protein-coding gene	gene with protein product		104155	"AT-binding transcription factor 1"	ATBF1		1719379, 7592926	Standard	NM_006885		Approved	ZNF927	uc002fck.3	Q15911	OTTHUMG00000137599	ENST00000268489.5:c.3631C>A	16.37:g.72845836G>T	ENSP00000268489:p.Pro1211Thr					ZFHX3_ENST00000397992.5_Missense_Mutation_p.P297T	p.P1211T	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN			6	4303	-		Ovarian(137;0.13)	1211					D3DWS8|O15101|Q13719	Missense_Mutation	SNP	ENST00000268489.5	37	c.3631C>A	CCDS10908.1	.	.	.	.	.	.	.	.	.	.	G	12.76	2.034939	0.35893	.	.	ENSG00000140836	ENST00000268489;ENST00000397992	T;T	0.74632	-0.86;-0.78	5.86	5.86	0.93980	.	0.135512	0.33772	N	0.004567	T	0.57344	0.2047	N	0.16368	0.405	0.50171	D	0.999851	B	0.26512	0.151	B	0.22753	0.041	T	0.56068	-0.8040	10	0.48119	T	0.1	.	9.5985	0.39589	0.0725:0.0:0.7844:0.1431	.	1211	Q15911	ZFHX3_HUMAN	T	1211;297	ENSP00000268489:P1211T;ENSP00000438926:P297T	ENSP00000268489:P1211T	P	-	1	0	ZFHX3	71403337	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.172000	0.65003	2.937000	0.99478	0.650000	0.86243	CCA		0.532	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269008.1	NM_006885		8	134	1	0	5.18039e-06	1	6.02045e-06	8	134					T	72845836	G	T	72845836	3	4	417	1	0	0	0	0	1	0	0	0	17631	1261	44	5	7500	5	ZFHX3	16	72845836	Missense_Mutation	SNP	G	TCGA-VP-A87E-01A-31D-A34U-08		72845836	17508917	19	20231											
ZNF18	7566	broad.mit.edu	37	chr17	11881383	11881383	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tataaggtttctctccagtgTgaaccctctgatgtctatta	9	16	7	9	0	3	2	0	2	3	0	5	2	4	2	2	1	1	1	2	1	5	5			TCGA-VP-A87E-01A-31D-A34U-08	TCGA-VP-A87E-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eae221e0-1a67-4302-a04a-10195507d23b	a73d17ac-6872-4b3d-a945-212f2a20d843	g.chr17:11881383T>C	ENST00000322748.3	-	9	2145	c.1541A>G	c.(1540-1542)cAc>cGc	p.H514R	ZNF18_ENST00000580306.2_Missense_Mutation_p.H514R|ZNF18_ENST00000454073.3_Missense_Mutation_p.H513R|RP11-1096G20.5_ENST00000580270.1_RNA	NM_144680.2	NP_653281.2	P17022	ZNF18_HUMAN	zinc finger protein 18	514					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)	14				Colorectal(4;3.33e-05)|COAD - Colon adenocarcinoma(4;0.000494)|READ - Rectum adenocarcinoma(10;0.233)		CTCTCCAGTGTGAACCCTCTG	0.423																																						ENST00000322748.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)	14						c.(1540-1542)cAc>cGc		zinc finger protein 18							113	115	114					17																	11881383		2203	4300	6503	SO:0001583	missense	7566				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr17:11881383T>C	X52342	CCDS32568.1	17p12	2013-01-09	2006-05-10		ENSG00000154957	ENSG00000154957		"Zinc fingers, C2H2-type", "-", "-", "-"	12969	protein-coding gene	gene with protein product		194524	"zinc finger protein 18 (KOX 11)"			15702252	Standard	XM_005256786		Approved	ZKSCAN6, KOX11, HDSG1, Zfp535, ZNF535, ZSCAN38	uc002gng.1	P17022	OTTHUMG00000178307	ENST00000322748.3:c.1541A>G	17.37:g.11881383T>C	ENSP00000315664:p.His514Arg					ZNF18_ENST00000580306.1_Missense_Mutation_p.H514R|ZNF18_ENST00000580613.1_3'UTR|ZNF18_ENST00000454073.3_Missense_Mutation_p.H513R	p.H514R	NM_144680.2	NP_653281.2	P17022	ZNF18_HUMAN		Colorectal(4;3.33e-05)|COAD - Colon adenocarcinoma(4;0.000494)|READ - Rectum adenocarcinoma(10;0.233)	9	2145	-			514					Q5QHQ3|Q8IYC4|Q8NAH6	Missense_Mutation	SNP	ENST00000322748.3	37	c.1541A>G	CCDS32568.1	.	.	.	.	.	.	.	.	.	.	T	12.52	1.962831	0.34659	.	.	ENSG00000154957	ENST00000454073;ENST00000322748	T	0.67523	-0.27	5.78	4.68	0.58851	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.64402	D	0.000019	T	0.81635	0.4864	M	0.91249	3.19	0.37272	D	0.907449	D;D	0.62365	0.988;0.991	P;P	0.58820	0.761;0.846	D	0.86258	0.1653	10	0.87932	D	0	-19.0704	10.4083	0.44278	0.1465:0.0:0.0:0.8535	.	513;514	P17022-2;P17022	.;ZNF18_HUMAN	R	514	ENSP00000315664:H514R	ENSP00000315664:H514R	H	-	2	0	ZNF18	11822108	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.987000	0.88182	0.981000	0.38548	0.451000	0.29950	CAC		0.423	ZNF18-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000441450.2	XM_085596		7	96	0	0	0	1	0	7	96					C	11881383	T	C	11881383	3	2	417	1	0	0	0	0	1	0	0	0	17744	1696	59	4	112	4	ZNF18	17	11881383	Missense_Mutation	SNP	T	TCGA-VP-A87E-01A-31D-A34U-08		11881383	69313827	20	20232											
AP2B1	163	broad.mit.edu	37	chr17	33977804	33977804	+	Missense_Mutation	SNP	G	G	A																															aacacttgccaattcatcatGggaggtaagaaggtgtgaac																										TCGA-VP-A87E-01A-31D-A34U-08	TCGA-VP-A87E-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eae221e0-1a67-4302-a04a-10195507d23b	a73d17ac-6872-4b3d-a945-212f2a20d843	g.chr17:33977804G>A	ENST00000262325.7	+	13	2345	c.1792G>A	c.(1792-1794)Ggg>Agg	p.G598R	AP2B1_ENST00000592545.1_Missense_Mutation_p.G560R|AP2B1_ENST00000538556.1_Missense_Mutation_p.G541R|AP2B1_ENST00000589344.1_Missense_Mutation_p.G598R|AP2B1_ENST00000312678.8_Missense_Mutation_p.G598R|AP2B1_ENST00000545922.2_3'UTR|AP2B1_ENST00000537622.2_Missense_Mutation_p.G598R	NM_001282.2	NP_001273.1	P63010	AP2B1_HUMAN	adaptor-related protein complex 2, beta 1 subunit	598	Pro-rich (stalk region).				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon guidance (GO:0007411)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|intracellular protein transport (GO:0006886)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of defense response to virus by virus (GO:0050690)|synaptic transmission (GO:0007268)|viral process (GO:0016032)	clathrin adaptor complex (GO:0030131)|clathrin-coated endocytic vesicle membrane (GO:0030669)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886)	clathrin binding (GO:0030276)|protein transporter activity (GO:0008565)			NS(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0227)		AATTCATCATGGGAGGTAAGA	0.423																																						ENST00000262325.7																			0				NS(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						c.(1792-1794)Ggg>Agg		adaptor-related protein complex 2, beta 1 subunit							104	95	98					17																	33977804		2203	4300	6503	SO:0001583	missense	163				axon guidance|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|vesicle-mediated transport|viral reproduction	clathrin adaptor complex|coated pit|cytosol|endocytic vesicle membrane|plasma membrane	clathrin binding|protein transporter activity	g.chr17:33977804G>A	M34175	CCDS32621.1, CCDS32622.1	17q11.2-q12	2010-06-18			ENSG00000006125	ENSG00000006125			563	protein-coding gene	gene with protein product		601025		ADTB2, CLAPB1		8262066, 8595912	Standard	XM_005257937		Approved		uc002hjq.3	P63010		ENST00000262325.7:c.1792G>A	17.37:g.33977804G>A	ENSP00000262325:p.Gly598Arg					AP2B1_ENST00000545922.2_3'UTR|AP2B1_ENST00000312678.8_Missense_Mutation_p.G598R|AP2B1_ENST00000592545.1_Missense_Mutation_p.G560R|AP2B1_ENST00000589344.1_Missense_Mutation_p.G598R|AP2B1_ENST00000537622.2_Missense_Mutation_p.G598R|AP2B1_ENST00000538556.1_Missense_Mutation_p.G541R	p.G598R	NM_001282.2	NP_001273.1	P63010	AP2B1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0227)	13	2345	+		Ovarian(249;0.17)	598			Pro-rich (stalk region).		A6NJP3|P21851|Q7Z451|Q96J19	Missense_Mutation	SNP	ENST00000262325.7	37	c.1792G>A	CCDS32622.1	.	.	.	.	.	.	.	.	.	.	G	11.98	1.800641	0.31869	.	.	ENSG00000006125	ENST00000262325;ENST00000312678;ENST00000538556;ENST00000537622;ENST00000545922	T;T;T;T	0.35973	1.53;1.55;1.28;1.55	5.63	5.63	0.86233	.	0.139910	0.64402	D	0.000003	T	0.25644	0.0624	N	0.10972	0.075	0.80722	D	1	P;B;B;B	0.44946	0.846;0.006;0.012;0.021	B;B;B;B	0.43445	0.42;0.013;0.018;0.03	T	0.04454	-1.0950	10	0.17369	T	0.5	-1.4233	18.6561	0.91455	0.0:0.0:1.0:0.0	.	335;560;598;598	F5GYG9;B4DWG4;P63010;P63010-2	.;.;AP2B1_HUMAN;.	R	598;598;541;598;335	ENSP00000262325:G598R;ENSP00000314414:G598R;ENSP00000440563:G541R;ENSP00000437413:G598R	ENSP00000262325:G598R	G	+	1	0	AP2B1	31001917	1.000000	0.71417	1.000000	0.80357	0.814000	0.46013	6.945000	0.75947	2.663000	0.90544	0.591000	0.81541	GGG		0.423	AP2B1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000448969.1			5	86	0	0	0	1	0	5	86					A	33977804	G	A	33977804	3	1	417	1	0	0	0	0	1	0	0	0	741	1348	47	3	1838	3	AP2B1	17	33977804	Missense_Mutation	SNP	G	TCGA-VP-A87E-01A-31D-A34U-08	22096421	33977804	47217406	21	20233	103	2									
AP2B1	163	broad.mit.edu	37	chr17	33977805	33977805	+	Missense_Mutation	SNP	G	G	A																															acacttgccaattcatcatgGgaggtaagaaggtgtgaact																										TCGA-VP-A87E-01A-31D-A34U-08	TCGA-VP-A87E-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eae221e0-1a67-4302-a04a-10195507d23b	a73d17ac-6872-4b3d-a945-212f2a20d843	g.chr17:33977805G>A	ENST00000262325.7	+	13	2346	c.1793G>A	c.(1792-1794)gGg>gAg	p.G598E	AP2B1_ENST00000592545.1_Missense_Mutation_p.G560E|AP2B1_ENST00000538556.1_Missense_Mutation_p.G541E|AP2B1_ENST00000589344.1_Missense_Mutation_p.G598E|AP2B1_ENST00000312678.8_Missense_Mutation_p.G598E|AP2B1_ENST00000545922.2_3'UTR|AP2B1_ENST00000537622.2_Missense_Mutation_p.G598E	NM_001282.2	NP_001273.1	P63010	AP2B1_HUMAN	adaptor-related protein complex 2, beta 1 subunit	598	Pro-rich (stalk region).				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon guidance (GO:0007411)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|intracellular protein transport (GO:0006886)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of defense response to virus by virus (GO:0050690)|synaptic transmission (GO:0007268)|viral process (GO:0016032)	clathrin adaptor complex (GO:0030131)|clathrin-coated endocytic vesicle membrane (GO:0030669)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886)	clathrin binding (GO:0030276)|protein transporter activity (GO:0008565)			NS(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0227)		ATTCATCATGGGAGGTAAGAA	0.418																																						ENST00000262325.7																			0				NS(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						c.(1792-1794)gGg>gAg		adaptor-related protein complex 2, beta 1 subunit							102	94	97					17																	33977805		2203	4300	6503	SO:0001583	missense	163				axon guidance|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|vesicle-mediated transport|viral reproduction	clathrin adaptor complex|coated pit|cytosol|endocytic vesicle membrane|plasma membrane	clathrin binding|protein transporter activity	g.chr17:33977805G>A	M34175	CCDS32621.1, CCDS32622.1	17q11.2-q12	2010-06-18			ENSG00000006125	ENSG00000006125			563	protein-coding gene	gene with protein product		601025		ADTB2, CLAPB1		8262066, 8595912	Standard	XM_005257937		Approved		uc002hjq.3	P63010		ENST00000262325.7:c.1793G>A	17.37:g.33977805G>A	ENSP00000262325:p.Gly598Glu					AP2B1_ENST00000545922.2_3'UTR|AP2B1_ENST00000312678.8_Missense_Mutation_p.G598E|AP2B1_ENST00000592545.1_Missense_Mutation_p.G560E|AP2B1_ENST00000589344.1_Missense_Mutation_p.G598E|AP2B1_ENST00000537622.2_Missense_Mutation_p.G598E|AP2B1_ENST00000538556.1_Missense_Mutation_p.G541E	p.G598E	NM_001282.2	NP_001273.1	P63010	AP2B1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0227)	13	2346	+		Ovarian(249;0.17)	598			Pro-rich (stalk region).		A6NJP3|P21851|Q7Z451|Q96J19	Missense_Mutation	SNP	ENST00000262325.7	37	c.1793G>A	CCDS32622.1	.	.	.	.	.	.	.	.	.	.	G	11.92	1.781902	0.31502	.	.	ENSG00000006125	ENST00000262325;ENST00000312678;ENST00000538556;ENST00000537622;ENST00000545922	T;T;T;T	0.35048	1.59;1.6;1.33;1.6	5.63	5.63	0.86233	.	0.139910	0.64402	D	0.000003	T	0.20618	0.0496	N	0.11756	0.17	0.80722	D	1	P;B;B;B	0.40931	0.733;0.0;0.0;0.0	B;B;B;B	0.37550	0.253;0.0;0.0;0.0	T	0.07770	-1.0755	10	0.02654	T	1	-1.4233	18.6561	0.91455	0.0:0.0:1.0:0.0	.	335;560;598;598	F5GYG9;B4DWG4;P63010;P63010-2	.;.;AP2B1_HUMAN;.	E	598;598;541;598;335	ENSP00000262325:G598E;ENSP00000314414:G598E;ENSP00000440563:G541E;ENSP00000437413:G598E	ENSP00000262325:G598E	G	+	2	0	AP2B1	31001918	1.000000	0.71417	0.996000	0.52242	0.725000	0.41563	9.137000	0.94496	2.663000	0.90544	0.591000	0.81541	GGG		0.418	AP2B1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000448969.1			4	86	0	0	0	1	0	4	86					A	33977805	G	A	33977805	3	1	417	1	0	0	0	0	1	0	0	0	741	1232	43	3	1839	3	AP2B1	17	33977805	Missense_Mutation	SNP	G	TCGA-VP-A87E-01A-31D-A34U-08	1	33977805	47217405	22	20234	103	2									
PTPRS	5802	broad.mit.edu	37	chr19	5210793	5210793	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctccgccagcggcccctgtGtcgcgatgtaggccttctgc	3	10	12	16	4	2	0	0	0	2	0	4	1	2	0	5	2	2	1	5	2	1	2			TCGA-VP-A87E-01A-31D-A34U-08	TCGA-VP-A87E-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eae221e0-1a67-4302-a04a-10195507d23b	a73d17ac-6872-4b3d-a945-212f2a20d843	g.chr19:5210793G>C	ENST00000587303.1	-	33	5357	c.5258C>G	c.(5257-5259)aCa>aGa	p.T1753R	PTPRS_ENST00000588012.1_Missense_Mutation_p.T1715R|PTPRS_ENST00000592099.1_Missense_Mutation_p.T1306R|PTPRS_ENST00000348075.2_Missense_Mutation_p.T1715R|PTPRS_ENST00000353284.2_Missense_Mutation_p.T1306R|PTPRS_ENST00000357368.4_Missense_Mutation_p.T1753R|PTPRS_ENST00000588552.1_5'UTR|PTPRS_ENST00000262963.6_Missense_Mutation_p.T1733R|PTPRS_ENST00000372412.4_Missense_Mutation_p.T1754R			Q13332	PTPRS_HUMAN	protein tyrosine phosphatase, receptor type, S	1753	Tyrosine-protein phosphatase 2. {ECO:0000255|PROSITE-ProRule:PRU00160}.				cell adhesion (GO:0007155)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|corpus callosum development (GO:0022038)|extracellular matrix organization (GO:0030198)|hippocampus development (GO:0021766)|peptidyl-tyrosine dephosphorylation (GO:0035335)|spinal cord development (GO:0021510)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)	61				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)	Alendronate(DB00630)|Etidronic acid(DB01077)	CGGCCCCTGTGTCGCGATGTA	0.657																																						ENST00000372412.4																			0				NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)	61						c.(5260-5262)aCa>aGa		protein tyrosine phosphatase, receptor type, S							67	55	59					19																	5210793		2203	4300	6503	SO:0001583	missense	5802				cell adhesion	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr19:5210793G>C	U35234	CCDS12139.1, CCDS12140.1, CCDS45930.1, CCDS74265.1	19p13.3	2013-02-11				ENSG00000105426		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	9681	protein-coding gene	gene with protein product		601576				8954782, 8524829	Standard	NM_002850		Approved		uc002mbv.3	Q13332		ENST00000587303.1:c.5258C>G	19.37:g.5210793G>C	ENSP00000467537:p.Thr1753Arg					PTPRS_ENST00000592099.1_Missense_Mutation_p.T1306R|PTPRS_ENST00000262963.6_Missense_Mutation_p.T1733R|PTPRS_ENST00000588552.1_5'UTR|PTPRS_ENST00000588012.1_Missense_Mutation_p.T1715R|PTPRS_ENST00000587303.1_Missense_Mutation_p.T1753R|PTPRS_ENST00000357368.4_Missense_Mutation_p.T1753R|PTPRS_ENST00000348075.2_Missense_Mutation_p.T1715R|PTPRS_ENST00000353284.2_Missense_Mutation_p.T1306R	p.T1754R			Q13332	PTPRS_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)	34	5494	-			1753			Tyrosine-protein phosphatase 2.		O75255|O75870|Q15718|Q16341|Q2M3R7	Missense_Mutation	SNP	ENST00000587303.1	37	c.5261C>G	CCDS45930.1	.	.	.	.	.	.	.	.	.	.	g	17.40	3.380147	0.61845	.	.	ENSG00000105426	ENST00000536396;ENST00000372412;ENST00000357368;ENST00000355005;ENST00000356037;ENST00000262963;ENST00000348075;ENST00000355322;ENST00000544524;ENST00000353284	D;D;D;D;D	0.87966	-2.32;-2.32;-2.32;-2.32;-2.32	2.58	2.58	0.30949	Protein-tyrosine phosphatase, receptor/non-receptor type (3);	0.326429	0.24508	U	0.037901	D	0.95834	0.8644	H	0.98951	4.38	0.80722	D	1	D;D;D;D;D;D	0.89917	0.999;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.85130	0.987;0.989;0.964;0.997;0.989;0.983	D	0.96427	0.9316	10	0.66056	D	0.02	.	12.5368	0.56145	0.0:0.0:1.0:0.0	.	1335;1306;1310;1715;1753;1348	F8W800;Q13332-7;F5H2T4;Q13332-6;Q13332;Q59FX6	.;.;.;.;PTPRS_HUMAN;.	R	1348;1754;1753;1753;1744;1733;1715;1335;1310;1306	ENSP00000361489:T1754R;ENSP00000349932:T1753R;ENSP00000262963:T1733R;ENSP00000269907:T1715R;ENSP00000327313:T1306R	ENSP00000262963:T1733R	T	-	2	0	PTPRS	5161793	1.000000	0.71417	0.571000	0.28486	0.629000	0.37895	9.314000	0.96306	1.468000	0.48064	0.486000	0.48141	ACA		0.657	PTPRS-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000450762.2			3	33	0	0	0	1	0	3	33					C	5210793	G	C	5210793	3	2	417	1	0	0	0	0	1	0	0	0	12811	1377	48	5	608	5	PTPRS	19	5210793	Missense_Mutation	SNP	G	TCGA-VP-A87E-01A-31D-A34U-08		5210793	53918190	23	20235											
NANOS3	342977	broad.mit.edu	37	chr19	13988558	13988559	+	In_Frame_Ins	INS	-	-	GAG																															acaggacacaggccaccgccINSgaggaggaggaggaggagca																								rs148122339|rs369192674	byFrequency	TCGA-VP-A87E-01A-31D-A34U-08	TCGA-VP-A87E-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eae221e0-1a67-4302-a04a-10195507d23b	a73d17ac-6872-4b3d-a945-212f2a20d843	g.chr19:13988558_13988559insGAG	ENST00000397555.2	+	2	439_440	c.439_440insGAG	c.(439-441)cga>cGAGga	p.152_153insG	NANOS3_ENST00000591727.1_Intron|MIR181C_ENST00000384881.1_RNA|MIR181D_ENST00000384853.1_RNA|NANOS3_ENST00000339133.5_In_Frame_Ins_p.171_172insG	NM_001098622.2	NP_001092092.1	P60323	NANO3_HUMAN	nanos homolog 3 (Drosophila)	152					germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic signaling pathway (GO:2001234)|oogenesis (GO:0048477)|regulation of cell cycle (GO:0051726)|regulation of translation (GO:0006417)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytoplasmic stress granule (GO:0010494)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	RNA binding (GO:0003723)|zinc ion binding (GO:0008270)	p.G171delG(1)		breast(1)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	7			OV - Ovarian serous cystadenocarcinoma(19;2e-21)			AGGCCACCGCCGAGGAGGAGGA	0.644														114	0.0227636	0.0817	0.0072	5008	,	,		17472	0.001		0	False		,,,				2504	0					ENST00000397555.2																			1	Deletion - In frame(1)	p.G171delG(1)	prostate(1)	breast(1)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	7						c.(439-441)agg>GAGagg		nanos homolog 3 (Drosophila)																																				SO:0001652	inframe_insertion	342977				anti-apoptosis|germ cell development|multicellular organismal development|oogenesis|regulation of cell cycle|regulation of translation|spermatogenesis	cytoplasmic mRNA processing body|nucleus|stress granule	RNA binding|zinc ion binding	g.chr19:13988558_13988559insGAG	BM702754	CCDS42511.1	19p13.13	2003-12-01				ENSG00000187556			22048	protein-coding gene	gene with protein product		608229					Standard	NM_001098622		Approved	NANOS1L, NOS3	uc002mxj.4	P60323		ENST00000397555.2:c.455_457dupGAG	19.37:g.13988565_13988567dupGAG	ENSP00000380687:p.Gly153_Gly154dup					NANOS3_ENST00000591727.1_Intron|NANOS3_ENST00000591161.1_5'UTR|NANOS3_ENST00000339133.5_In_Frame_Ins_p.165_166insE	p.146_147insE	NM_001098622.2	NP_001092092.1	P60323	NANO3_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;2e-21)		2	439_440	+			146					Q495E5	In_Frame_Ins	INS	ENST00000397555.2	37	c.439_440insGAG																																																																																					0.644	NANOS3-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		XM_292819		4	4						4	4	---	---	---	---	GAG	13988559	-	GAG	13988558	7	5	417	1	0	1	1	0	0	0	0	0	10153	644	23	0	498	0	NANOS3	19	13988558	In_Frame_Ins	INS	-	TCGA-VP-A87E-01A-31D-A34U-08	8777765	13988558	45140425	24	20236											
CYP4F3	4051	broad.mit.edu	37	chr19	15757912	15757912	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acagcttcctgaagccctggCtgggtgagtatctgtaggtg	7	11	14	9	0	1	2	0	2	1	0	2	2	2	2	2	3	2	4	2	3	3	3			TCGA-VP-A87E-01A-31D-A34U-08	TCGA-VP-A87E-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eae221e0-1a67-4302-a04a-10195507d23b	a73d17ac-6872-4b3d-a945-212f2a20d843	g.chr19:15757912C>A	ENST00000221307.8	+	4	441	c.394C>A	c.(394-396)Ctg>Atg	p.L132M	CYP4F3_ENST00000585846.1_Missense_Mutation_p.L132M|CYP4F3_ENST00000591058.1_Missense_Mutation_p.L132M|CYP4F3_ENST00000586182.2_Missense_Mutation_p.L132M	NM_000896.2	NP_000887.2	Q08477	CP4F3_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 3	132					arachidonic acid metabolic process (GO:0019369)|icosanoid metabolic process (GO:0006690)|leukotriene metabolic process (GO:0006691)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	alpha-tocopherol omega-hydroxylase activity (GO:0052871)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|leukotriene-B4 20-monooxygenase activity (GO:0050051)|monooxygenase activity (GO:0004497)			endometrium(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|stomach(1)	34						GAAGCCCTGGCTGGGTGAGTA	0.582																																						ENST00000221307.7																			0				endometrium(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|stomach(1)	34						c.(394-396)Ctg>Atg		cytochrome P450, family 4, subfamily F, polypeptide 3							87	80	83					19																	15757912		2203	4300	6503	SO:0001583	missense	4051				leukotriene metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding	g.chr19:15757912C>A	AB002454	CCDS12332.1, CCDS59362.1	19p13.12	2013-02-21	2003-01-14		ENSG00000186529	ENSG00000186529		"Cytochrome P450s"	2646	protein-coding gene	gene with protein product		601270	"cytochrome P450, subfamily IVF, polypeptide 3 (leukotriene B4 omega hydroxylase)"	LTB4H		8486631, 9539102	Standard	NM_000896		Approved	CYP4F	uc010xol.2	Q08477	OTTHUMG00000182374	ENST00000221307.8:c.394C>A	19.37:g.15757912C>A	ENSP00000221307:p.Leu132Met					CYP4F3_ENST00000591058.1_Missense_Mutation_p.L132M|CYP4F3_ENST00000585846.1_Missense_Mutation_p.L132M|CYP4F3_ENST00000586182.1_Missense_Mutation_p.L132M	p.L132M	NM_000896.2	NP_000887.2	Q08477	CP4F3_HUMAN			4	442	+			132					B7Z8Z3|O60634|Q5U740	Missense_Mutation	SNP	ENST00000221307.8	37	c.394C>A	CCDS12332.1	.	.	.	.	.	.	.	.	.	.	.	11.05	1.525772	0.27299	.	.	ENSG00000186529	ENST00000538865;ENST00000221307	T	0.70045	-0.45	2.96	1.86	0.25419	.	0.573052	0.13220	U	0.404439	T	0.80597	0.4653	M	0.83384	2.64	0.47778	D	0.99951	D;D	0.89917	1.0;1.0	D;D	0.79784	0.993;0.993	T	0.78432	-0.2206	10	0.87932	D	0	.	9.2265	0.37410	0.0:0.7751:0.2249:0.0	.	132;132	B7Z8Z3;Q08477	.;CP4F3_HUMAN	M	59;132	ENSP00000221307:L132M	ENSP00000221307:L132M	L	+	1	2	CYP4F3	15618912	1.000000	0.71417	0.998000	0.56505	0.224000	0.24922	1.057000	0.30492	0.392000	0.25172	0.205000	0.17691	CTG		0.582	CYP4F3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460819.3	NM_000896		5	114	1	0	3.59834e-05	1	4.0718e-05	5	114					A	15757912	C	A	15757912	3	1	417	1	0	0	0	0	1	0	0	0	4190	796	28	5	404	5	CYP4F3	19	15757912	Missense_Mutation	SNP	C	TCGA-VP-A87E-01A-31D-A34U-08	1769354	15757912	43371071	25	20237											
PLCB1	23236	broad.mit.edu	37	chr20	8862290	8862290	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgcaggtggagctggagcaaGaataccaagacaaattcaaa	17	6	11	7	0	1	2	1	0	0	2	1	4	1	4	1	3	4	3	1	3	6	2			TCGA-VP-A87E-01A-31D-A34U-08	TCGA-VP-A87E-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eae221e0-1a67-4302-a04a-10195507d23b	a73d17ac-6872-4b3d-a945-212f2a20d843	g.chr20:8862290G>C	ENST00000338037.6	+	32	3472	c.3445G>C	c.(3445-3447)Gaa>Caa	p.E1149Q	PLCB1_ENST00000378641.3_3'UTR	NM_015192.2	NP_056007.1	Q9NQ66	PLCB1_HUMAN	phospholipase C, beta 1 (phosphoinositide-specific)	1149					activation of meiosis involved in egg activation (GO:0060466)|cerebral cortex development (GO:0021987)|fat cell differentiation (GO:0045444)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|G2/M transition of mitotic cell cycle (GO:0000086)|glutamate receptor signaling pathway (GO:0007215)|inositol phosphate metabolic process (GO:0043647)|insulin-like growth factor receptor signaling pathway (GO:0048009)|interleukin-1-mediated signaling pathway (GO:0070498)|interleukin-12-mediated signaling pathway (GO:0035722)|interleukin-15-mediated signaling pathway (GO:0035723)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|memory (GO:0007613)|negative regulation of monocyte extravasation (GO:2000438)|negative regulation of transcription, DNA-templated (GO:0045892)|phosphatidylinositol metabolic process (GO:0046488)|positive regulation of acrosome reaction (GO:2000344)|positive regulation of CD24 biosynthetic process (GO:2000560)|positive regulation of developmental growth (GO:0048639)|positive regulation of embryonic development (GO:0040019)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of GTPase activity (GO:0043547)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of JNK cascade (GO:0046330)|positive regulation of myoblast differentiation (GO:0045663)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of fertilization (GO:0080154)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|GTPase activator activity (GO:0005096)|phosphatidylinositol phospholipase C activity (GO:0004435)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein homodimerization activity (GO:0042803)|signal transducer activity (GO:0004871)			NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						GCTGGAGCAAGAATACCAAGA	0.453																																						ENST00000338037.6																			0				NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						c.(3445-3447)Gaa>Caa		phospholipase C, beta 1 (phosphoinositide-specific)							130	139	136					20																	8862290		2203	4300	6503	SO:0001583	missense	23236				activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission	cytosol|nuclear chromatin|nuclear speck	calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity	g.chr20:8862290G>C	AB011153	CCDS13102.1, CCDS13103.1	20p12	2008-03-18			ENSG00000182621	ENSG00000182621	3.1.4.11		15917	protein-coding gene	gene with protein product		607120				10760467, 11118617	Standard	NM_015192		Approved	KIAA0581, PLC-I, PLC154	uc002wnb.4	Q9NQ66	OTTHUMG00000031849	ENST00000338037.6:c.3445G>C	20.37:g.8862290G>C	ENSP00000338185:p.Glu1149Gln					PLCB1_ENST00000378641.3_3'UTR	p.E1149Q	NM_015192.2	NP_056007.1	Q9NQ66	PLCB1_HUMAN			32	3472	+			1149					D3DW12|D3DW13|O60325|Q17RQ6|Q5TFF7|Q5TGC9|Q8IV93|Q9BQW2|Q9H4H2|Q9H8H5|Q9NQ65|Q9NQH9|Q9NTH4|Q9UJP6|Q9UM26	Missense_Mutation	SNP	ENST00000338037.6	37	c.3445G>C	CCDS13102.1	.	.	.	.	.	.	.	.	.	.	G	25.9	4.687212	0.88639	.	.	ENSG00000182621	ENST00000338037;ENST00000441163	T	0.55413	0.52	5.86	5.86	0.93980	PLC-beta, C-terminal (1);	0.127832	0.53938	D	0.000047	T	0.60702	0.2289	L	0.52573	1.65	0.80722	D	1	D	0.53312	0.959	P	0.50049	0.629	T	0.62015	-0.6943	10	0.66056	D	0.02	.	20.2019	0.98263	0.0:0.0:1.0:0.0	.	1149	Q9NQ66	PLCB1_HUMAN	Q	1149;1069	ENSP00000338185:E1149Q	ENSP00000338185:E1149Q	E	+	1	0	PLCB1	8810290	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.050000	0.93843	2.776000	0.95493	0.655000	0.94253	GAA		0.453	PLCB1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077938.3			5	163	0	0	0	1	0	5	163					C	8862290	G	C	8862290	3	2	417	1	0	0	0	0	1	0	0	0	12027	943	33	5	3674	5	PLCB1	20	8862290	Missense_Mutation	SNP	G	TCGA-VP-A87E-01A-31D-A34U-08		8862290	54163230	26	20238											
UBE2L3	7332	broad.mit.edu	37	chr22	21947210	21947210	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtaacatccaggttgatgaaGctaatttattgacttggcaa	13	13	9	6	0	0	3	0	3	0	0	1	3	1	3	1	2	2	4	1	2	5	7			TCGA-VP-A87E-01A-31D-A34U-08	TCGA-VP-A87E-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eae221e0-1a67-4302-a04a-10195507d23b	a73d17ac-6872-4b3d-a945-212f2a20d843	g.chr22:21947210G>C	ENST00000342192.4	+	2	286	c.88G>C	c.(88-90)Gct>Cct	p.A30P	UBE2L3_ENST00000458578.2_Missense_Mutation_p.A88P|UBE2L3_ENST00000545681.1_Intron	NM_003347.3	NP_003338.1	P68036	UB2L3_HUMAN	ubiquitin-conjugating enzyme E2L 3	30					cell proliferation (GO:0008283)|cellular protein modification process (GO:0006464)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to steroid hormone stimulus (GO:0071383)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|protein K11-linked ubiquitination (GO:0070979)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)|enzyme binding (GO:0019899)|poly(A) RNA binding (GO:0044822)|transcription coactivator activity (GO:0003713)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activator activity (GO:0097027)|ubiquitin-protein transferase activity (GO:0004842)		UBE2L3/KRAS(2)	large_intestine(4)	4	Colorectal(54;0.105)					GGTTGATGAAGCTAATTTATT	0.418																																						ENST00000342192.4																		UBE2L3/KRAS(2)	0				large_intestine(4)	4						c.(88-90)Gct>Cct		ubiquitin-conjugating enzyme E2L 3							117	91	100					22																	21947210		2203	4300	6503	SO:0001583	missense	7332				cell proliferation|cellular response to glucocorticoid stimulus|protein K11-linked ubiquitination|regulation of S phase of mitotic cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	cytoplasm|nucleus|ubiquitin ligase complex	ATP binding|transcription coactivator activity|ubiquitin protein ligase binding|ubiquitin-protein ligase activity	g.chr22:21947210G>C	AJ000519	CCDS13790.1, CCDS58795.1, CCDS58796.1	22q11.2	2007-02-05			ENSG00000185651	ENSG00000185651		"Ubiquitin-conjugating enzymes E2"	12488	protein-coding gene	gene with protein product		603721				8672131, 9693040	Standard	NM_001256356		Approved	UBCH7	uc031rxe.1	P68036	OTTHUMG00000150823	ENST00000342192.4:c.88G>C	22.37:g.21947210G>C	ENSP00000344259:p.Ala30Pro					UBE2L3_ENST00000458578.2_Missense_Mutation_p.A88P|UBE2L3_ENST00000545681.1_Intron	p.A30P	NM_003347.3	NP_003338.1	P68036	UB2L3_HUMAN			2	286	+	Colorectal(54;0.105)		30					B2R4A7|B4DDG1|B4DSZ4|E7EWS7|P51966|P70653|Q9HAV1	Missense_Mutation	SNP	ENST00000342192.4	37	c.88G>C	CCDS13790.1	.	.	.	.	.	.	.	.	.	.	G	15.59	2.878499	0.51801	.	.	ENSG00000185651	ENST00000458578;ENST00000342192	T;T	0.72282	-0.64;-0.64	5.63	5.63	0.86233	Ubiquitin-conjugating enzyme, E2 (2);Ubiquitin-conjugating enzyme/RWD-like (2);	0.144833	0.46758	D	0.000267	T	0.57359	0.2048	N	0.21448	0.665	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.54589	-0.8271	10	0.56958	D	0.05	.	12.4832	0.55856	0.0:0.0:0.833:0.167	.	30;30	P68036;A8K4W8	UB2L3_HUMAN;.	P	88;30	ENSP00000400906:A88P;ENSP00000344259:A30P	ENSP00000344259:A30P	A	+	1	0	UBE2L3	20277210	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.823000	0.55715	2.815000	0.96918	0.561000	0.74099	GCT		0.418	UBE2L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320219.1	NM_198157		3	43	0	0	0	1	0	3	43					C	21947210	G	C	21947210	3	2	417	1	0	0	0	0	1	0	0	0	16860	971	34	5	94	5	UBE2L3	22	21947210	Missense_Mutation	SNP	G	TCGA-VP-A87E-01A-31D-A34U-08		21947210	29357356	27	20239											
ARSD	414	broad.mit.edu	37	chrX	2838677	2838677	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catagccatgctgctgcaagAttcttgcaaaagtggtttcg	10	12	10	9	1	1	1	0	0	1	1	2	1	1	1	1	1	5	5	1	1	4	4			TCGA-VP-A87E-01A-31D-A34U-08	TCGA-VP-A87E-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eae221e0-1a67-4302-a04a-10195507d23b	a73d17ac-6872-4b3d-a945-212f2a20d843	g.chrX:2838677A>C	ENST00000381154.1	-	4	479	c.404T>G	c.(403-405)aTc>aGc	p.I135S	ARSD_ENST00000217890.6_5'UTR	NM_001669.3	NP_001660.2	P51689	ARSD_HUMAN	arylsulfatase D	135					cellular protein metabolic process (GO:0044267)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)			large_intestine(3)|lung(3)	6		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				CTGCTGCAAGATTCTTGCAAA	0.527																																						ENST00000381154.1																			0				large_intestine(3)|lung(3)	6						c.(403-405)aTc>aGc		arylsulfatase D							96	73	81					X																	2838677		2203	4300	6503	SO:0001583	missense	414					lysosome	arylsulfatase activity|metal ion binding	g.chrX:2838677A>C	X83572	CCDS35196.1	Xp22.3	2013-02-14			ENSG00000006756	ENSG00000006756		"Arylsulfatase family"	717	protein-coding gene	gene with protein product		300002				7720070	Standard	NM_001669		Approved		uc004cqy.3	P51689	OTTHUMG00000021077	ENST00000381154.1:c.404T>G	X.37:g.2838677A>C	ENSP00000370546:p.Ile135Ser					ARSD_ENST00000217890.6_5'UTR	p.I135S	NM_001669.3	NP_001660.2	P51689	ARSD_HUMAN			4	479	-		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)	135					Q9UHJ8	Missense_Mutation	SNP	ENST00000381154.1	37	c.404T>G	CCDS35196.1	.	.	.	.	.	.	.	.	.	.	a	12.69	2.014336	0.35511	.	.	ENSG00000006756	ENST00000381154;ENST00000217890	D	0.98876	-5.2	3.1	3.1	0.35709	Alkaline phosphatase-like, alpha/beta/alpha (1);Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.300521	0.32671	U	0.005800	D	0.98005	0.9343	M	0.76170	2.325	0.30705	N	0.749845	P;P;P	0.46784	0.763;0.884;0.763	B;P;P	0.48770	0.255;0.542;0.589	D	0.96694	0.9513	10	0.72032	D	0.01	.	10.2672	0.43462	1.0:0.0:0.0:0.0	.	135;135;135	P51689-2;E9PAW5;P51689	.;.;ARSD_HUMAN	S	135	ENSP00000370546:I135S	ENSP00000217890:I135S	I	-	2	0	ARSD	2848677	0.401000	0.25303	0.001000	0.08648	0.162000	0.22319	4.211000	0.58507	1.094000	0.41399	0.343000	0.21770	ATC		0.527	ARSD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055636.1			4	23	0	0	0	1	0	4	23					C	2838677	A	C	2838677	3	2	417	1	0	0	0	0	1	0	0	0	989	333	12	5	1558	5	ARSD	23	2838677	Missense_Mutation	SNP	A	TCGA-VP-A87E-01A-31D-A34U-08		2838677	152431883	28	20240											
HDHD1A	8226	broad.mit.edu	37	chrX	7023871	7023871	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaacaccactgaatacagccGttcagtatctgcaggaaaaa	17	7	7	10	1	2	1	1	1	1	0	2	2	2	2	2	1	4	3	2	1	6	3			TCGA-VP-A87E-01A-31D-A34U-08	TCGA-VP-A87E-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eae221e0-1a67-4302-a04a-10195507d23b	a73d17ac-6872-4b3d-a945-212f2a20d843	g.chrX:7023871G>A	ENST00000381077.5	-	2	146	c.70C>T	c.(70-72)Cgg>Tgg	p.R24W	HDHD1_ENST00000412827.2_Missense_Mutation_p.R24W|HDHD1_ENST00000498474.2_5'UTR|HDHD1_ENST00000424830.2_Missense_Mutation_p.R47W|HDHD1_ENST00000540122.1_Missense_Mutation_p.R24W	NM_001178136.1|NM_012080.4	NP_001171607.1|NP_036212.3	Q08623	HDHD1_HUMAN	haloacid dehalogenase-like hydrolase domain containing 1	24					nucleotide metabolic process (GO:0009117)	extracellular vesicular exosome (GO:0070062)	metal ion binding (GO:0046872)|phosphatase activity (GO:0016791)			breast(2)|large_intestine(1)|lung(3)	6						GAATACAGCCGTTCAGTATCT	0.393																																						ENST00000381077.5																			0				breast(2)|large_intestine(1)|lung(3)	6						c.(70-72)Cgg>Tgg		haloacid dehalogenase-like hydrolase domain containing 1							37	31	33					X																	7023871		1828	4076	5904	SO:0001583	missense	8226				nucleotide metabolic process		metal ion binding|phosphatase activity	g.chrX:7023871G>A	M86934	CCDS48075.1, CCDS48076.1, CCDS55366.1, CCDS55367.1	Xp22.32	2010-07-21	2010-07-21	2010-07-21	ENSG00000130021	ENSG00000130021			16818	protein-coding gene	gene with protein product		306480	"family with sequence similarity 16, member A, X-linked", "haloacid dehalogenase-like hydrolase domain containing 1A"	FAM16AX, HDHD1A		1734713, 1284467	Standard	NM_012080		Approved	DXF68S1E, GS1	uc011mhm.1	Q08623	OTTHUMG00000021101	ENST00000381077.5:c.70C>T	X.37:g.7023871G>A	ENSP00000370467:p.Arg24Trp					HDHD1_ENST00000540122.1_Missense_Mutation_p.R24W|HDHD1_ENST00000412827.2_Missense_Mutation_p.R24W|HDHD1_ENST00000498474.2_5'UTR|HDHD1_ENST00000424830.2_Missense_Mutation_p.R47W	p.R24W	NM_001178136.1|NM_012080.4	NP_001171607.1|NP_036212.3	Q08623	HDHD1_HUMAN			2	146	-			24					B2R7X6|B4DV93|B7Z6Q3|E9PAV8|F5GWZ2|Q53F84|Q96EB8	Missense_Mutation	SNP	ENST00000381077.5	37	c.70C>T	CCDS48075.1	.	.	.	.	.	.	.	.	.	.	g	12.52	1.963176	0.34659	.	.	ENSG00000130021	ENST00000381077;ENST00000544385;ENST00000412827;ENST00000424830;ENST00000540122;ENST00000486446	T;T;T;T;T	0.30981	3.39;1.51;3.39;3.39;3.39	4.01	4.01	0.46588	Haloacid dehalogenase-like hydrolase (1);HAD-like domain (1);	0.270733	0.37095	N	0.002256	T	0.50292	0.1607	L	0.60845	1.875	0.80722	D	1	D;D;B;D;P	0.89917	1.0;0.995;0.287;1.0;0.627	D;P;B;D;B	0.77557	0.986;0.78;0.056;0.99;0.114	T	0.52215	-0.8605	10	0.52906	T	0.07	-21.3852	14.2172	0.65800	0.0:0.0:1.0:0.0	.	24;24;47;24;24	Q08623-3;Q08623-2;E9PAV8;E7EVH9;Q08623	.;.;.;.;HDHD1_HUMAN	W	24;40;24;47;24;24	ENSP00000370467:R24W;ENSP00000406260:R24W;ENSP00000396452:R47W;ENSP00000441208:R24W;ENSP00000430995:R24W	ENSP00000370467:R24W	R	-	1	2	HDHD1	7033871	0.983000	0.35010	0.016000	0.15963	0.229000	0.25112	2.693000	0.47027	1.618000	0.50286	0.597000	0.82753	CGG		0.393	HDHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055683.2	NM_012080		3	10	0	0	0	1	0	3	10					A	7023871	G	A	7023871	3	1	417	1	0	0	0	0	1	0	0	0	7022	1144	40	1	749	1	HDHD1A	23	7023871	Missense_Mutation	SNP	G	TCGA-VP-A87E-01A-31D-A34U-08	4185194	7023871	148246689	29	20241											
SMC1A	8243	broad.mit.edu	37	chrX	53436013	53436013	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cacagagccagggtaaaggcGcttgatgctttccattatct	10	11	10	10	1	1	2	0	1	1	1	2	2	2	2	2	2	2	3	2	2	3	4			TCGA-VP-A87E-01A-31D-A34U-08	TCGA-VP-A87E-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eae221e0-1a67-4302-a04a-10195507d23b	a73d17ac-6872-4b3d-a945-212f2a20d843	g.chrX:53436013G>C	ENST00000322213.4	-	9	1652	c.1525C>G	c.(1525-1527)Cgc>Ggc	p.R509G	SMC1A_ENST00000375340.6_Missense_Mutation_p.R275G	NM_006306.2	NP_006297.2	Q14683	SMC1A_HUMAN	structural maintenance of chromosomes 1A	509	Flexible hinge.				DNA repair (GO:0006281)|gene expression (GO:0010467)|meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic sister chromatid cohesion (GO:0007064)|mitotic sister chromatid segregation (GO:0000070)|mitotic spindle organization (GO:0007052)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of DNA endoreduplication (GO:0032876)|response to radiation (GO:0009314)|RNA splicing (GO:0008380)|signal transduction in response to DNA damage (GO:0042770)|sister chromatid cohesion (GO:0007062)|stem cell maintenance (GO:0019827)	chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cohesin core heterodimer (GO:0008280)|condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|meiotic cohesin complex (GO:0030893)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|microtubule motor activity (GO:0003777)|poly(A) RNA binding (GO:0044822)|protein heterodimerization activity (GO:0046982)			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(8)|ovary(5)|upper_aerodigestive_tract(2)	49						GGGTAAAGGCGCTTGATGCTT	0.562																																						ENST00000322213.4																			0				NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(8)|ovary(5)|upper_aerodigestive_tract(2)	49						c.(1525-1527)Cgc>Ggc		structural maintenance of chromosomes 1A							93	83	86					X																	53436013		2203	4300	6503	SO:0001583	missense	8243				cell cycle checkpoint|cell division|DNA repair|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic sister chromatid cohesion|mitotic spindle organization|negative regulation of DNA endoreduplication|nuclear mRNA splicing, via spliceosome|response to radiation|signal transduction in response to DNA damage	cohesin core heterodimer|condensed chromosome kinetochore|condensed nuclear chromosome|cytoplasm|meiotic cohesin complex|nucleoplasm	ATP binding|chromatin binding|microtubule motor activity|protein heterodimerization activity	g.chrX:53436013G>C	S78271	CCDS14352.1, CCDS75985.1	Xp11.22-p11.21	2014-09-17	2006-07-06	2006-07-06	ENSG00000072501	ENSG00000072501		"Structural maintenance of chromosomes proteins"	11111	protein-coding gene	gene with protein product		300040	"SMC1 (structural maintenance of chromosomes 1, yeast)-like 1", "SMC1 structural maintenance of chromosomes 1-like 1 (yeast)"	SMC1L1		7757074	Standard	NM_006306		Approved	DXS423E, KIAA0178, SB1.8, Smcb	uc004dsg.3	Q14683	OTTHUMG00000021614	ENST00000322213.4:c.1525C>G	X.37:g.53436013G>C	ENSP00000323421:p.Arg509Gly					SMC1A_ENST00000375340.6_Missense_Mutation_p.R275G	p.R509G	NM_006306.2	NP_006297.2	Q14683	SMC1A_HUMAN			9	1652	-			509			Flexible hinge.		O14995|Q16351|Q2M228	Missense_Mutation	SNP	ENST00000322213.4	37	c.1525C>G	CCDS14352.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.986770	0.74589	.	.	ENSG00000072501	ENST00000322213;ENST00000375340	D;D	0.85955	-2.05;-2.05	5.28	5.28	0.74379	SMCs flexible hinge (1);RecF/RecN/SMC (1);	0.000000	0.85682	D	0.000000	D	0.93802	0.8018	M	0.92169	3.28	0.58432	D	0.999998	D;D;D	0.69078	0.988;0.997;0.994	D;P;P	0.66602	0.945;0.867;0.863	D	0.95228	0.8340	10	0.87932	D	0	.	16.9938	0.86361	0.0:0.0:1.0:0.0	.	275;487;509	B7Z709;Q6MZR8;Q14683	.;.;SMC1A_HUMAN	G	509;275	ENSP00000323421:R509G;ENSP00000364489:R275G	ENSP00000323421:R509G	R	-	1	0	SMC1A	53452738	0.999000	0.42202	1.000000	0.80357	0.994000	0.84299	1.217000	0.32455	2.362000	0.80069	0.600000	0.82982	CGC		0.562	SMC1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056756.2	NM_006306		4	27	0	0	0	1	0	4	27					C	53436013	G	C	53436013	3	2	417	1	0	0	0	0	1	0	0	0	14781	1087	38	5	2244	5	SMC1A	23	53436013	Missense_Mutation	SNP	G	TCGA-VP-A87E-01A-31D-A34U-08	46412142	53436013	101834547	30	20242											
STAG2	10735	broad.mit.edu	37	chrX	123179076	123179076	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aagaagttcaaatccagtttTtgtgaattcattggcgtgtt	11	16	9	5	1	2	2	2	1	0	1	3	2	3	2	1	1	0	3	1	1	4	6			TCGA-VP-A87E-01A-31D-A34U-08	TCGA-VP-A87E-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eae221e0-1a67-4302-a04a-10195507d23b	a73d17ac-6872-4b3d-a945-212f2a20d843	g.chrX:123179076T>C	ENST00000371160.1	+	8	815	c.525T>C	c.(523-525)ttT>ttC	p.F175F	STAG2_ENST00000469481.1_Intron|STAG2_ENST00000371157.3_Silent_p.F175F|STAG2_ENST00000371144.3_Silent_p.F175F|STAG2_ENST00000371145.3_Silent_p.F175F|STAG2_ENST00000354548.5_Silent_p.F106F|STAG2_ENST00000218089.9_Silent_p.F175F	NM_001282418.1	NP_001269347.1	Q8N3U4	STAG2_HUMAN	stromal antigen 2	175					meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of DNA endoreduplication (GO:0032876)|sister chromatid cohesion (GO:0007062)|stem cell maintenance (GO:0019827)	actin cytoskeleton (GO:0015629)|chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	chromatin binding (GO:0003682)			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(9)|lung(21)|ovary(5)|prostate(2)|skin(5)|urinary_tract(4)	78						AATCCAGTTTTTGTGAATTCA	0.343																																						ENST00000371160.1																			0				breast(5)|central_nervous_system(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(9)|lung(21)|ovary(5)|prostate(2)|skin(5)|urinary_tract(4)	78						c.(523-525)ttT>ttC		stromal antigen 2							175	162	167					X																	123179076		2203	4300	6503	SO:0001819	synonymous_variant	10735				cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion	chromatin|chromosome, centromeric region|nucleoplasm	protein binding	g.chrX:123179076T>C	Z75331	CCDS14607.1, CCDS43990.1	Xq25	2014-09-17			ENSG00000101972	ENSG00000101972			11355	protein-coding gene	gene with protein product		300826				9305759	Standard	NM_001042750		Approved	SA-2, SCC3B	uc004eua.3	Q8N3U4	OTTHUMG00000022725	ENST00000371160.1:c.525T>C	X.37:g.123179076T>C						STAG2_ENST00000354548.5_Silent_p.F106F|STAG2_ENST00000469481.1_Intron|STAG2_ENST00000218089.9_Silent_p.F175F|STAG2_ENST00000371144.3_Silent_p.F175F|STAG2_ENST00000371145.3_Silent_p.F175F|STAG2_ENST00000371157.3_Silent_p.F175F	p.F175F			Q8N3U4	STAG2_HUMAN			8	815	+			175					B1AMT5|D3DTF5|O00540|Q5JTI6|Q68DE9|Q9H1N8	Silent	SNP	ENST00000371160.1	37	c.525T>C	CCDS14607.1																																																																																				0.343	STAG2-018	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000156159.2	NM_006603		18	157	0	0	0	1	0	18	157					C	123179076	T	C	123179076	2	2	417	1	0	0	0	0	0	0	0	1	15242	1838	64	4		4	STAG2	23	123179076	Silent	SNP	T	TCGA-VP-A87E-01A-31D-A34U-08	69743063	123179076	32091484	31	20243											
MAMLD1	10046	broad.mit.edu	37	chrX	149639452	149639452	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcccaggagccacggagcCatttacttttggcaacacca	11	7	9	14	1	0	0	0	0	0	0	0	2	0	2	4	3	5	1	4	3	2	4			TCGA-VP-A87E-01A-31D-A34U-08	TCGA-VP-A87E-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eae221e0-1a67-4302-a04a-10195507d23b	a73d17ac-6872-4b3d-a945-212f2a20d843	g.chrX:149639452C>G	ENST00000370401.2	+	4	1917	c.1607C>G	c.(1606-1608)cCa>cGa	p.P536R	MAMLD1_ENST00000455522.2_Missense_Mutation_p.P17R|MAMLD1_ENST00000262858.5_Missense_Mutation_p.P536R|MAMLD1_ENST00000426613.2_Missense_Mutation_p.P511R|MAMLD1_ENST00000432680.2_Missense_Mutation_p.P511R			Q13495	MAMD1_HUMAN	mastermind-like domain containing 1	536					male gonad development (GO:0008584)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				breast(1)|endometrium(4)|kidney(3)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)	37	Acute lymphoblastic leukemia(192;6.56e-05)					GCCACGGAGCCATTTACTTTT	0.542																																						ENST00000370401.2																			0				breast(1)|endometrium(4)|kidney(3)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)	37						c.(1606-1608)cCa>cGa		mastermind-like domain containing 1							124	106	112					X																	149639452		2203	4300	6503	SO:0001583	missense	10046				male gonad development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chrX:149639452C>G	U46023	CCDS14693.2, CCDS55525.1, CCDS55526.1	Xq28	2008-02-05	2008-01-03	2008-01-03	ENSG00000013619	ENSG00000013619			2568	protein-coding gene	gene with protein product		300120	"chromosome X open reading frame 6"	CXorf6		9169146, 17086185, 18162467	Standard	NM_001177465		Approved	CG1, F18	uc011mxu.2	Q13495	OTTHUMG00000024157	ENST00000370401.2:c.1607C>G	X.37:g.149639452C>G	ENSP00000359428:p.Pro536Arg					MAMLD1_ENST00000426613.2_Missense_Mutation_p.P511R|MAMLD1_ENST00000432680.2_Missense_Mutation_p.P511R|MAMLD1_ENST00000262858.5_Missense_Mutation_p.P536R|MAMLD1_ENST00000455522.2_Missense_Mutation_p.P17R	p.P536R			Q13495	MAMD1_HUMAN			4	1917	+	Acute lymphoblastic leukemia(192;6.56e-05)		536					B2RCQ4|B4DG93|B9EGA5	Missense_Mutation	SNP	ENST00000370401.2	37	c.1607C>G	CCDS14693.2	.	.	.	.	.	.	.	.	.	.	C	11.80	1.746323	0.30955	.	.	ENSG00000013619	ENST00000370401;ENST00000432680;ENST00000262858;ENST00000426613;ENST00000455522	T;T;T;T;T	0.69926	-0.44;-0.44;-0.44;-0.44;-0.44	5.45	3.49	0.39957	.	0.260319	0.33057	N	0.005337	T	0.78329	0.4266	M	0.70275	2.135	0.31144	N	0.706224	D;D;D	0.89917	1.0;0.992;1.0	D;P;D	0.91635	0.999;0.877;0.999	T	0.77453	-0.2582	10	0.51188	T	0.08	-10.6303	11.7243	0.51700	0.4139:0.5861:0.0:0.0	.	511;511;536	Q13495-4;Q13495-3;Q13495	.;.;MAMD1_HUMAN	R	536;511;536;511;17	ENSP00000359428:P536R;ENSP00000414517:P511R;ENSP00000262858:P536R;ENSP00000397438:P511R;ENSP00000389106:P17R	ENSP00000262858:P536R	P	+	2	0	MAMLD1	149390110	0.972000	0.33761	0.658000	0.29665	0.261000	0.26267	2.404000	0.44539	2.298000	0.77334	0.529000	0.55759	CCA		0.542	MAMLD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000060844.2	NM_005491		13	32	0	0	0	1	0	13	32					G	149639452	C	G	149639452	3	3	417	1	0	0	0	0	1	0	0	0	9208	594	21	5	1617	5	MAMLD1	23	149639452	Missense_Mutation	SNP	C	TCGA-VP-A87E-01A-31D-A34U-08	26460376	149639452	5631108	32	20244											
MACF1	23499	broad.mit.edu	37	chr1	39798764	39798764	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cctctaagaaacacttccttTacatgtcagaatgaacaagc	15	10	5	11	0	2	3	1	1	1	2	3	3	3	3	2	0	4	0	2	0	6	4			TCGA-VP-A87H-01A-11D-A34U-08	TCGA-VP-A87H-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83d97b01-92e2-41d7-acca-2d96a560970b	d500dcf5-dcd0-4372-b69e-011974798a94	g.chr1:39798764T>C	ENST00000372915.3	+	36	6606	c.6519T>C	c.(6517-6519)ttT>ttC	p.F2173F	MACF1_ENST00000317713.7_Intron|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000567887.1_Silent_p.F2205F|MACF1_ENST00000289893.4_Silent_p.F608F|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000476350.1_Intron|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000564288.1_Silent_p.F2168F			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	2173					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			ACACTTCCTTTACATGTCAGA	0.403																																						ENST00000564288.1																			0				breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203						c.(6502-6504)ttT>ttC		microtubule-actin crosslinking factor 1							58	60	60					1																	39798764		2203	4300	6503	SO:0001819	synonymous_variant	23499				cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding	g.chr1:39798764T>C	AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"EF-hand domain containing"	13664	protein-coding gene	gene with protein product	"actin cross-linking factor", "620 kDa actin binding protein", "macrophin 1", "trabeculin-alpha", "actin cross-linking family protein 7"	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.6519T>C	1.37:g.39798764T>C						MACF1_ENST00000289893.4_Silent_p.F608F|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000567887.1_Silent_p.F2205F|MACF1_ENST00000372915.3_Silent_p.F2173F|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000476350.1_Intron	p.F2168F			Q9UPN3	MACF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)		37	7281	+	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	2173					B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Silent	SNP	ENST00000372915.3	37	c.6504T>C																																																																																					0.403	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1	NM_033044		15	38	0	0	0	1	0	15	38					C	39798764	T	C	39798764	2	2	418	1	0	0	0	0	0	0	0	1	9144	1751	61	4		4	MACF1	1	39798764	Silent	SNP	T	TCGA-VP-A87H-01A-11D-A34U-08		39798764	209451857	1	20245											
C1orf87	127795	broad.mit.edu	37	chr1	60456396	60456396	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tccaagagcatattttctccCgaacggaatctgcgcaaggc	11	9	9	12	3	2	1	0	0	2	1	4	3	3	2	2	2	3	2	2	2	5	3			TCGA-VP-A87H-01A-11D-A34U-08	TCGA-VP-A87H-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83d97b01-92e2-41d7-acca-2d96a560970b	d500dcf5-dcd0-4372-b69e-011974798a94	g.chr1:60456396C>A	ENST00000371201.3	-	12	1697	c.1590G>T	c.(1588-1590)tcG>tcT	p.S530S	C1orf87_ENST00000486478.1_5'UTR|C1orf87_ENST00000450089.2_Silent_p.S301S|C1orf87_ENST00000395552.1_Silent_p.S164S	NM_152377.2	NP_689590.1	Q8N0U7	CA087_HUMAN	chromosome 1 open reading frame 87	530							calcium ion binding (GO:0005509)	p.S530S(1)		breast(2)|endometrium(2)|large_intestine(6)|lung(19)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33						TATTTTCTCCCGAACGGAATC	0.468																																					NSCLC(75;811 1386 4923 13371 51772)	ENST00000371201.3																			1	Substitution - coding silent(1)	p.S530S(1)	lung(1)	breast(2)|endometrium(2)|large_intestine(6)|lung(19)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33						c.(1588-1590)tcG>tcT		chromosome 1 open reading frame 87							210	209	209					1																	60456396		2203	4300	6503	SO:0001819	synonymous_variant	127795						calcium ion binding	g.chr1:60456396C>A	AK124828	CCDS614.1	1p32.1	2014-04-03			ENSG00000162598	ENSG00000162598			28547	protein-coding gene	gene with protein product	"carcinoma-related EF-hand protein"					12477932	Standard	NM_152377		Approved	MGC34837, CREF	uc001czs.2	Q8N0U7	OTTHUMG00000008992	ENST00000371201.3:c.1590G>T	1.37:g.60456396C>A						C1orf87_ENST00000486478.1_5'UTR|C1orf87_ENST00000450089.2_Silent_p.S301S|C1orf87_ENST00000395552.1_Silent_p.S164S	p.S530S	NM_152377.2	NP_689590.1	Q8N0U7	CA087_HUMAN			12	1697	-			530					Q6ZU07|Q8IVS0	Silent	SNP	ENST00000371201.3	37	c.1590G>T	CCDS614.1																																																																																				0.468	C1orf87-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024943.1	NM_152377		4	207	1	0	0.184627	1	0.184627	4	207					A	60456396	C	A	60456396	2	1	418	1	0	0	0	0	0	0	0	1	2064	639	23	5		5	C1orf87	1	60456396	Silent	SNP	C	TCGA-VP-A87H-01A-11D-A34U-08	20657632	60456396	188794225	2	20246											
COBLL1	22837	broad.mit.edu	37	chr2	165551962	165551962	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aggtatttacagaatcttgtGaacttaagcatgagtgttga	13	14	10	4	0	1	4	0	3	1	1	1	4	1	4	0	1	3	3	0	1	5	6			TCGA-VP-A87H-01A-11D-A34U-08	TCGA-VP-A87H-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83d97b01-92e2-41d7-acca-2d96a560970b	d500dcf5-dcd0-4372-b69e-011974798a94	g.chr2:165551962G>A	ENST00000392717.2	-	13	2172	c.2168C>T	c.(2167-2169)tCa>tTa	p.S723L	COBLL1_ENST00000375458.2_Missense_Mutation_p.S647L|COBLL1_ENST00000194871.6_Missense_Mutation_p.S752L|COBLL1_ENST00000409184.3_Missense_Mutation_p.S685L|COBLL1_ENST00000342193.4_Missense_Mutation_p.S685L			Q53SF7	COBL1_HUMAN	cordon-bleu WH2 repeat protein-like 1	723						extracellular vesicular exosome (GO:0070062)				central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	47						AGAATCTTGTGAACTTAAGCA	0.368																																						ENST00000375458.2																			0				central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	47						c.(1939-1941)tCa>tTa		cordon-bleu WH2 repeat protein-like 1							145	142	143					2																	165551962		2203	4300	6503	SO:0001583	missense	22837							g.chr2:165551962G>A	AB023194	CCDS2223.2, CCDS63045.1	2q24.3	2012-12-07	2012-12-07		ENSG00000082438	ENSG00000082438			23571	protein-coding gene	gene with protein product		610318	"COBL-like 1"				Standard	NM_001278458		Approved	KIAA0977	uc002ucp.3	Q53SF7	OTTHUMG00000074019	ENST00000392717.2:c.2168C>T	2.37:g.165551962G>A	ENSP00000376478:p.Ser723Leu					COBLL1_ENST00000409184.3_Missense_Mutation_p.S685L|COBLL1_ENST00000342193.4_Missense_Mutation_p.S685L|COBLL1_ENST00000194871.6_Missense_Mutation_p.S752L|COBLL1_ENST00000392717.2_Missense_Mutation_p.S723L	p.S647L	NM_001278460.1|NM_001278461.1	NP_001265389.1|NP_001265390.1	Q53SF7	COBL1_HUMAN			11	2161	-			723					A6NMZ3|Q6IQ33|Q7Z3I6|Q9BRH4|Q9UG88|Q9Y2I3	Missense_Mutation	SNP	ENST00000392717.2	37	c.1940C>T		.	.	.	.	.	.	.	.	.	.	G	3.502	-0.101689	0.06967	.	.	ENSG00000082438	ENST00000375458;ENST00000342193;ENST00000409184;ENST00000392717;ENST00000194871	.	.	.	6.06	4.15	0.48705	.	0.611865	0.16413	N	0.215481	T	0.14960	0.0361	N	0.03608	-0.345	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.06405	0.001;0.001;0.002	T	0.25012	-1.0144	9	0.19590	T	0.45	0.0092	6.9207	0.24387	0.0859:0.0:0.6043:0.3098	.	723;752;685	Q53SF7;B7Z2P5;Q53SF7-2	COBL1_HUMAN;.;.	L	647;685;685;723;752	.	ENSP00000194871:S752L	S	-	2	0	COBLL1	165260208	0.003000	0.15002	0.105000	0.21289	0.047000	0.14425	1.511000	0.35801	0.758000	0.33059	0.655000	0.94253	TCA		0.368	COBLL1-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_014900		31	81	0	0	0	1	0	31	81					A	165551962	G	A	165551962	3	1	418	1	0	0	0	0	1	0	0	0	3654	1294	45	3	1458	3	COBLL1	2	165551962	Missense_Mutation	SNP	G	TCGA-VP-A87H-01A-11D-A34U-08		165551962	77647411	3	20247											
CYP27A1	1593	broad.mit.edu	37	chr2	219677083	219677083	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctggaccagctgcgggcagaGagtgcttcggggaaccaggt	8	6	17	10	2	0	1	0	0	0	1	1	4	0	3	2	5	4	3	2	5	1	1			TCGA-VP-A87H-01A-11D-A34U-08	TCGA-VP-A87H-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83d97b01-92e2-41d7-acca-2d96a560970b	d500dcf5-dcd0-4372-b69e-011974798a94	g.chr2:219677083G>A	ENST00000258415.4	+	3	1012	c.585G>A	c.(583-585)gaG>gaA	p.E195E		NM_000784.3	NP_000775.1	Q02318	CP27A_HUMAN	cytochrome P450, family 27, subfamily A, polypeptide 1	195					bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cholesterol metabolic process (GO:0008203)|small molecule metabolic process (GO:0044281)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)	cholestanetriol 26-monooxygenase activity (GO:0047749)|cholesterol 26-hydroxylase activity (GO:0031073)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|steroid hydroxylase activity (GO:0008395)|vitamin D3 25-hydroxylase activity (GO:0030343)			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|prostate(3)|urinary_tract(1)	26		Renal(207;0.0474)		Epithelial(149;9.48e-07)|all cancers(144;0.000171)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00981)	Chenodeoxycholic acid(DB06777)|Cholecalciferol(DB00169)|Ergocalciferol(DB00153)|Pegvisomant(DB00082)	TGCGGGCAGAGAGTGCTTCGG	0.557																																						ENST00000258415.4																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|prostate(3)|urinary_tract(1)	26						c.(583-585)gaG>gaA		cytochrome P450, family 27, subfamily A, polypeptide 1	Cholecalciferol(DB00169)						181	187	185					2																	219677083		2203	4300	6503	SO:0001819	synonymous_variant	1593				bile acid biosynthetic process|xenobiotic metabolic process	mitochondrial matrix	cholestanetriol 26-monooxygenase activity|electron carrier activity|heme binding	g.chr2:219677083G>A	BC017044	CCDS2423.1	2q35	2013-09-19	2003-01-14		ENSG00000135929	ENSG00000135929		"Cytochrome P450s"	2605	protein-coding gene	gene with protein product	"cerebrotendinous xanthomatosis"	606530	"cytochrome P450, subfamily XXVIIA (steroid 27-hydroxylase, cerebrotendinous xanthomatosis), polypeptide 1"	CYP27		2019602	Standard	NM_000784		Approved	CTX, CP27	uc002viz.4	Q02318	OTTHUMG00000048238	ENST00000258415.4:c.585G>A	2.37:g.219677083G>A							p.E195E	NM_000784.3	NP_000775.1	Q02318	CP27A_HUMAN		Epithelial(149;9.48e-07)|all cancers(144;0.000171)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00981)	3	1012	+		Renal(207;0.0474)	195					A8K303|Q6LDB4|Q86YQ6	Silent	SNP	ENST00000258415.4	37	c.585G>A	CCDS2423.1																																																																																				0.557	CYP27A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109734.4			21	97	0	0	0	1	0	21	97					A	219677083	G	A	219677083	2	1	418	1	0	0	0	0	0	0	0	1	4158	933	33	3		3	CYP27A1	2	219677083	Silent	SNP	G	TCGA-VP-A87H-01A-11D-A34U-08	54125121	219677083	23522290	4	20248											
CTNNB1	1499	broad.mit.edu	37	chr3	41266101	41266101	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaacagtcttacctggactCtggaatccattctggtgcca	9	11	9	12	0	3	0	0	0	3	0	4	2	4	2	3	3	3	1	3	3	3	2	rs121913416|rs121913400		TCGA-VP-A87H-01A-11D-A34U-08	TCGA-VP-A87H-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83d97b01-92e2-41d7-acca-2d96a560970b	d500dcf5-dcd0-4372-b69e-011974798a94	g.chr3:41266101C>A	ENST00000349496.5	+	3	378	c.98C>A	c.(97-99)tCt>tAt	p.S33Y	CTNNB1_ENST00000453024.1_Missense_Mutation_p.S26Y|CTNNB1_ENST00000396185.3_Missense_Mutation_p.S33Y|CTNNB1_ENST00000396183.3_Missense_Mutation_p.S33Y|CTNNB1_ENST00000405570.1_Missense_Mutation_p.S33Y	NM_001904.3	NP_001895.1	P35222	CTNB1_HUMAN	catenin (cadherin-associated protein), beta 1, 88kDa	33			Missing (in hepatocellular carcinoma). {ECO:0000269|PubMed:10435629}.|S -> F (in PTR, MDB and hepatocellular carcinoma). {ECO:0000269|PubMed:10192393, ECO:0000269|PubMed:10435629, ECO:0000269|PubMed:10666372}.|S -> L (in hepatocellular carcinoma). {ECO:0000269|PubMed:10435629}.|S -> Y (in colorectal cancer and PTR; enhances transactivation of target genes). {ECO:0000269|PubMed:10192393, ECO:0000269|PubMed:9065402}.		adherens junction assembly (GO:0034333)|androgen receptor signaling pathway (GO:0030521)|anterior/posterior axis specification (GO:0009948)|apoptotic process (GO:0006915)|bone resorption (GO:0045453)|branching involved in ureteric bud morphogenesis (GO:0001658)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|canonical Wnt signaling pathway involved in positive regulation of cardiac outflow tract cell proliferation (GO:0061324)|canonical Wnt signaling pathway involved in positive regulation of epithelial to mesenchymal transition (GO:0044334)|cell adhesion (GO:0007155)|cell fate specification (GO:0001708)|cell maturation (GO:0048469)|cell-matrix adhesion (GO:0007160)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to growth factor stimulus (GO:0071363)|cellular response to indole-3-methanol (GO:0071681)|cellular response to mechanical stimulus (GO:0071260)|central nervous system vasculogenesis (GO:0022009)|cytoskeletal anchoring at plasma membrane (GO:0007016)|determination of dorsal/ventral asymmetry (GO:0048262)|dorsal/ventral axis specification (GO:0009950)|ectoderm development (GO:0007398)|embryonic axis specification (GO:0000578)|embryonic digit morphogenesis (GO:0042733)|embryonic foregut morphogenesis (GO:0048617)|embryonic forelimb morphogenesis (GO:0035115)|embryonic heart tube development (GO:0035050)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal limb joint morphogenesis (GO:0036023)|endodermal cell fate commitment (GO:0001711)|endothelial tube morphogenesis (GO:0061154)|epithelial cell differentiation involved in prostate gland development (GO:0060742)|epithelial to mesenchymal transition (GO:0001837)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|fungiform papilla formation (GO:0061198)|gastrulation with mouth forming second (GO:0001702)|genitalia morphogenesis (GO:0035112)|glial cell fate determination (GO:0007403)|hair cell differentiation (GO:0035315)|hair follicle morphogenesis (GO:0031069)|hair follicle placode formation (GO:0060789)|hindbrain development (GO:0030902)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|layer formation in cerebral cortex (GO:0021819)|lens morphogenesis in camera-type eye (GO:0002089)|liver development (GO:0001889)|lung cell differentiation (GO:0060479)|lung induction (GO:0060492)|lung-associated mesenchyme development (GO:0060484)|male genitalia development (GO:0030539)|mesenchymal cell proliferation involved in lung development (GO:0060916)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|midgut development (GO:0007494)|muscle cell differentiation (GO:0042692)|myoblast differentiation (GO:0045445)|negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of heart induction by canonical Wnt signaling pathway (GO:0003136)|negative regulation of neuron death (GO:1901215)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein sumoylation (GO:0033234)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nephron tubule formation (GO:0072079)|neural plate development (GO:0001840)|neuron migration (GO:0001764)|odontogenesis of dentin-containing tooth (GO:0042475)|oocyte development (GO:0048599)|osteoclast differentiation (GO:0030316)|oviduct development (GO:0060066)|pancreas development (GO:0031016)|patterning of blood vessels (GO:0001569)|positive regulation of apoptotic process (GO:0043065)|positive regulation of branching involved in lung morphogenesis (GO:0061047)|positive regulation of determination of dorsal identity (GO:2000017)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of epithelial cell proliferation involved in prostate gland development (GO:0060769)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of fibroblast growth factor receptor signaling pathway (GO:0045743)|positive regulation of heparan sulfate proteoglycan biosynthetic process (GO:0010909)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein heterooligomerization (GO:0051291)|protein localization to cell surface (GO:0034394)|proximal/distal pattern formation (GO:0009954)|regulation of angiogenesis (GO:0045765)|regulation of calcium ion import (GO:0090279)|regulation of centriole-centriole cohesion (GO:0030997)|regulation of centromeric sister chromatid cohesion (GO:0070602)|regulation of fibroblast proliferation (GO:0048145)|regulation of myelination (GO:0031641)|regulation of nephron tubule epithelial cell differentiation (GO:0072182)|regulation of protein localization to cell surface (GO:2000008)|regulation of secondary heart field cardioblast proliferation (GO:0003266)|regulation of smooth muscle cell proliferation (GO:0048660)|regulation of T cell proliferation (GO:0042129)|renal inner medulla development (GO:0072053)|renal outer medulla development (GO:0072054)|renal vesicle formation (GO:0072033)|response to cadmium ion (GO:0046686)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|Schwann cell proliferation (GO:0014010)|single organismal cell-cell adhesion (GO:0016337)|smooth muscle cell differentiation (GO:0051145)|synapse organization (GO:0050808)|synaptic vesicle transport (GO:0048489)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tongue morphogenesis (GO:0043587)|trachea formation (GO:0060440)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	adherens junction (GO:0005912)|apical part of cell (GO:0045177)|basolateral plasma membrane (GO:0016323)|beta-catenin destruction complex (GO:0030877)|beta-catenin-TCF7L2 complex (GO:0070369)|catenin complex (GO:0016342)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cell periphery (GO:0071944)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|membrane (GO:0016020)|microvillus membrane (GO:0031528)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein-DNA complex (GO:0032993)|Scrib-APC-beta-catenin complex (GO:0034750)|synapse (GO:0045202)|tight junction (GO:0005923)|transcription factor complex (GO:0005667)|Z disc (GO:0030018)|zonula adherens (GO:0005915)	alpha-catenin binding (GO:0045294)|androgen receptor binding (GO:0050681)|cadherin binding (GO:0045296)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|estrogen receptor binding (GO:0030331)|I-SMAD binding (GO:0070411)|ion channel binding (GO:0044325)|kinase binding (GO:0019900)|nuclear hormone receptor binding (GO:0035257)|protein C-terminus binding (GO:0008022)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|R-SMAD binding (GO:0070412)|RNA polymerase II activating transcription factor binding (GO:0001102)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|SMAD binding (GO:0046332)|structural molecule activity (GO:0005198)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)	p.S33C(168)|p.S33F(97)|p.S33Y(60)|p.A5_A80del(53)|p.A5_Q143del(7)|p.A5_A80>D(7)|p.Q28_H134del(5)|p.S33L(4)|p.?(4)|p.V22_G38del(3)|p.W25_I140del(3)|p.T3_A126del(2)|p.S33N(2)|p.S23_S33del(2)|p.V22_S33del(2)|p.A5fs*7(2)|p.D32_S47del(2)|p.M5_N141>D(2)|p.L10_N141del(2)|p.A5_Y142>D(2)|p.Y30_S33del(2)|p.A5_Q143>E(1)|p.A13_R151del(1)|p.M14_S45del(1)|p.A20_N141del(1)|p.M1_A87del(1)|p.D11_Y142>H(1)|p.H24_G38del(1)|p.S23_I35del(1)|p.Y30_A97del(1)|p.W25_S33del(1)|p.V22_T102del(1)|p.A20_A80del(1)|p.V22_S71>A(1)|p.Q28_A43del(1)|p.A5_T59del(1)|p.D32fs*9(1)|p.A20_I35del(1)|p.M1_V173del(1)|p.E15_I140>V(1)|p.S23_A39del(1)|p.H24_M131del(1)|p.A21_A80del(1)|p.Y30_A80del(1)|p.A5_T40del(1)|p.S29_H36del(1)|p.A5_E54del(1)|p.W25_I35del(1)|p.S33_S37del(1)|p.M8_A80del(1)|p.P16_K133del(1)|p.V22_Y64del(1)|p.Q28_Q61del(1)|p.A20_S111del(1)|p.Y30_T40del(1)|p.D32_H36>D(1)|p.A5_I35del(1)|p.D32_H36del(1)	CTNNB1/PLAG1(60)	NS(4)|adrenal_gland(103)|biliary_tract(43)|bone(21)|breast(7)|central_nervous_system(260)|cervix(9)|endometrium(293)|eye(1)|haematopoietic_and_lymphoid_tissue(60)|kidney(202)|large_intestine(269)|liver(1010)|lung(63)|oesophagus(6)|ovary(106)|pancreas(126)|parathyroid(11)|pituitary(111)|pleura(2)|prostate(31)|salivary_gland(13)|skin(103)|small_intestine(17)|soft_tissue(792)|stomach(165)|thyroid(55)|upper_aerodigestive_tract(2)|urinary_tract(8)	3893				KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294)		TACCTGGACTCTGGAATCCAT	0.488	S33C(SKMEL1_SKIN)|S33F(SW1573_LUNG)|S33Y(SW48_LARGE_INTESTINE)	15	"H, Mis, T"	PLAG1	"colorectal, cvarian,  hepatoblastoma, others, pleomorphic salivary adenoma"				Pilomatrixoma, Familial Clustering of																												Colon(6;3 56 14213 18255)	ENST00000349496.5	S33C(SKMEL1_SKIN)|S33F(SW1573_LUNG)|S33Y(SW48_LARGE_INTESTINE)	15		Dom	yes		3	3p22-p21.3	1499	"H, Mis, T"	"catenin (cadherin-associated protein), beta 1"			"E, M, O"	PLAG1		"colorectal, cvarian,  hepatoblastoma, others, pleomorphic salivary adenoma"	CTNNB1/PLAG1(60)	468	Substitution - Missense(331)|Deletion - In frame(111)|Complex - deletion inframe(16)|Unknown(7)|Deletion - Frameshift(3)	p.S33C(168)|p.S33F(97)|p.S33Y(60)|p.A5_A80del(53)|p.A5_Q143del(7)|p.A5_A80>D(7)|p.Q28_H134del(5)|p.S33L(4)|p.?(4)|p.V22_G38del(3)|p.W25_I140del(3)|p.T3_A126del(2)|p.S33N(2)|p.S23_S33del(2)|p.V22_S33del(2)|p.A5fs*7(2)|p.D32_S47del(2)|p.M5_N141>D(2)|p.L10_N141del(2)|p.A5_Y142>D(2)|p.Y30_S33del(2)|p.A5_Q143>E(1)|p.A13_R151del(1)|p.M14_S45del(1)|p.A20_N141del(1)|p.M1_A87del(1)|p.D11_Y142>H(1)|p.H24_G38del(1)|p.S23_I35del(1)|p.Y30_A97del(1)|p.W25_S33del(1)|p.V22_T102del(1)|p.A20_A80del(1)|p.V22_S71>A(1)|p.Q28_A43del(1)|p.A5_T59del(1)|p.D32fs*9(1)|p.A20_I35del(1)|p.M1_V173del(1)|p.E15_I140>V(1)|p.S23_A39del(1)|p.H24_M131del(1)|p.A21_A80del(1)|p.Y30_A80del(1)|p.A5_T40del(1)|p.S29_H36del(1)|p.A5_E54del(1)|p.W25_I35del(1)|p.S33_S37del(1)|p.M8_A80del(1)|p.P16_K133del(1)|p.V22_Y64del(1)|p.Q28_Q61del(1)|p.A20_S111del(1)|p.Y30_T40del(1)|p.D32_H36>D(1)|p.A5_I35del(1)|p.D32_H36del(1)	liver(165)|central_nervous_system(82)|large_intestine(40)|endometrium(37)|stomach(32)|skin(21)|ovary(20)|pituitary(19)|pancreas(12)|lung(7)|biliary_tract(6)|soft_tissue(4)|bone(4)|breast(3)|prostate(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|parathyroid(2)|small_intestine(2)|thyroid(1)|NS(1)|urinary_tract(1)|adrenal_gland(1)	NS(4)|adrenal_gland(103)|biliary_tract(43)|bone(21)|breast(7)|central_nervous_system(260)|cervix(9)|endometrium(293)|eye(1)|haematopoietic_and_lymphoid_tissue(60)|kidney(202)|large_intestine(269)|liver(1010)|lung(63)|oesophagus(6)|ovary(106)|pancreas(126)|parathyroid(11)|pituitary(111)|pleura(2)|prostate(31)|salivary_gland(13)|skin(103)|small_intestine(17)|soft_tissue(792)|stomach(165)|thyroid(55)|upper_aerodigestive_tract(2)|urinary_tract(8)	3893						c.(97-99)tCt>tAt		catenin (cadherin-associated protein), beta 1, 88kDa	Lithium(DB01356)						92	77	82					3																	41266101		2203	4300	6503	SO:0001583	missense	1499	Pilomatrixoma, Familial Clustering of	Familial Cancer Database	Pilomatricoma, Familial Clustering of, Epithelioma Calcificans of Malherbe	adherens junction assembly|androgen receptor signaling pathway|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway involved in negative regulation of apoptosis|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell-cell adhesion|cell-matrix adhesion|cellular component disassembly involved in apoptosis|cellular response to growth factor stimulus|cellular response to indole-3-methanol|central nervous system vasculogenesis|cytoskeletal anchoring at plasma membrane|determination of dorsal/ventral asymmetry|dorsal/ventral axis specification|ectoderm development|embryonic axis specification|embryonic foregut morphogenesis|embryonic leg joint morphogenesis|endodermal cell fate commitment|endothelial tube morphogenesis|epithelial to mesenchymal transition|gastrulation with mouth forming second|glial cell fate determination|hair follicle morphogenesis|hair follicle placode formation|hindbrain development|liver development|lung cell differentiation|lung induction|lung-associated mesenchyme development|male genitalia development|mesenchymal cell proliferation involved in lung development|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of osteoclast differentiation|negative regulation of transcription from RNA polymerase II promoter|nephron tubule formation|odontogenesis of dentine-containing tooth|oocyte development|pancreas development|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of branching involved in lung morphogenesis|positive regulation of epithelial cell proliferation involved in prostate gland development|positive regulation of fibroblast growth factor receptor signaling pathway|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of muscle cell differentiation|positive regulation of osteoblast differentiation|positive regulation of transcription from RNA polymerase II promoter|protein localization at cell surface|proximal/distal pattern formation|regulation of angiogenesis|regulation of calcium ion import|regulation of centriole-centriole cohesion|regulation of centromeric sister chromatid cohesion|regulation of fibroblast proliferation|regulation of nephron tubule epithelial cell differentiation|regulation of protein localization at cell surface|regulation of smooth muscle cell proliferation|regulation of T cell proliferation|renal inner medulla development|renal outer medulla development|renal vesicle formation|response to drug|response to estradiol stimulus|Schwann cell proliferation|smooth muscle cell differentiation|synapse organization|synaptic vesicle transport|T cell differentiation in thymus|thymus development|trachea formation	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin-TCF7L2 complex|catenin complex|cell cortex|cell-substrate adherens junction|centrosome|dendritic shaft|desmosome|fascia adherens|internal side of plasma membrane|lamellipodium|lateral plasma membrane|microvillus membrane|perinuclear region of cytoplasm|protein-DNA complex|synapse|transcription factor complex|Z disc|zonula adherens	alpha-catenin binding|androgen receptor binding|cadherin binding|estrogen receptor binding|I-SMAD binding|ion channel binding|protein binding|protein C-terminus binding|protein kinase binding|protein phosphatase binding|R-SMAD binding|RPTP-like protein binding|signal transducer activity|specific RNA polymerase II transcription factor activity|structural molecule activity|transcription coactivator activity|transcription regulatory region DNA binding	g.chr3:41266101C>A	X87838	CCDS2694.1	3p21	2013-02-15	2002-08-29		ENSG00000168036	ENSG00000168036		"Armadillo repeat containing"	2514	protein-coding gene	gene with protein product		116806	"catenin (cadherin-associated protein), beta 1 (88kD)"	CTNNB		7829088	Standard	NM_001098210		Approved	beta-catenin, armadillo	uc003ckr.2	P35222	OTTHUMG00000131393	ENST00000349496.5:c.98C>A	3.37:g.41266101C>A	ENSP00000344456:p.Ser33Tyr					CTNNB1_ENST00000453024.1_Missense_Mutation_p.S26Y|CTNNB1_ENST00000396183.3_Missense_Mutation_p.S33Y|CTNNB1_ENST00000396185.3_Missense_Mutation_p.S33Y|CTNNB1_ENST00000405570.1_Missense_Mutation_p.S33Y	p.S33Y	NM_001904.3	NP_001895.1	P35222	CTNB1_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294)	3	378	+			33		Missing (in hepatocellular carcinoma).|S -> F (in PTR, MDB and hepatocellular carcinoma).|S -> L (in hepatocellular carcinoma).|S -> Y (in colorectal cancer and PTR; enhances transactivation of target genes).			A8K1L7|Q8NEW9|Q8NI94|Q9H391	Missense_Mutation	SNP	ENST00000349496.5	37	c.98C>A	CCDS2694.1	.	.	.	.	.	.	.	.	.	.	C	23.7	4.449496	0.84101	.	.	ENSG00000168036	ENST00000426215;ENST00000405570;ENST00000431914;ENST00000396183;ENST00000349496;ENST00000453024;ENST00000396185;ENST00000450969;ENST00000441708	T;T;T;T;T;T;T;T;T	0.50548	0.74;0.74;0.74;0.74;0.74;0.74;0.74;0.74;0.74	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	T	0.72053	0.3413	M	0.79614	2.46	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.74188	-0.3746	10	0.87932	D	0	-10.7796	19.9596	0.97236	0.0:1.0:0.0:0.0	.	33	P35222	CTNB1_HUMAN	Y	26;33;33;33;33;26;33;33;33	ENSP00000400508:S26Y;ENSP00000385604:S33Y;ENSP00000412219:S33Y;ENSP00000379486:S33Y;ENSP00000344456:S33Y;ENSP00000411226:S26Y;ENSP00000379488:S33Y;ENSP00000409302:S33Y;ENSP00000401599:S33Y	ENSP00000344456:S33Y	S	+	2	0	CTNNB1	41241105	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.818000	0.86416	2.726000	0.93360	0.655000	0.94253	TCT		0.488	CTNNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254182.2	NM_001098210		9	39	1	0	3.86212e-05	1	3.94258e-05	9	39					A	41266101	C	A	41266101	3	1	418	1	0	0	0	0	1	0	0	0	4016	913	32	5	104	5	CTNNB1	3	41266101	Missense_Mutation	SNP	C	TCGA-VP-A87H-01A-11D-A34U-08		41266101	156756329	5	20249											
PLCXD2	257068	broad.mit.edu	37	chr3	111426980	111426980	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gtcttccaaaccaggggatgCcgaccaggagatctacttca	11	8	10	12	1	3	1	1	0	2	1	4	4	4	2	4	3	3	0	4	3	2	3			TCGA-VP-A87H-01A-11D-A34U-08	TCGA-VP-A87H-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83d97b01-92e2-41d7-acca-2d96a560970b	d500dcf5-dcd0-4372-b69e-011974798a94	g.chr3:111426980C>T	ENST00000477665.1	+	2	695	c.371C>T	c.(370-372)gCc>gTc	p.A124V	PLCXD2_ENST00000393934.3_Missense_Mutation_p.A124V	NM_001185106.1	NP_001172035.1	Q0VAA5	PLCX2_HUMAN	phosphatidylinositol-specific phospholipase C, X domain containing 2	124	PI-PLC X-box. {ECO:0000255|PROSITE- ProRule:PRU00270}.				lipid catabolic process (GO:0016042)		phosphoric diester hydrolase activity (GO:0008081)|signal transducer activity (GO:0004871)			endometrium(1)|large_intestine(5)|lung(9)|prostate(1)|skin(1)	17						CCAGGGGATGCCGACCAGGAG	0.507																																						ENST00000393934.3																			0				endometrium(1)|large_intestine(5)|lung(9)|prostate(1)|skin(1)	17						c.(370-372)gCc>gTc		phosphatidylinositol-specific phospholipase C, X domain containing 2							122	117	119					3																	111426980		2203	4300	6503	SO:0001583	missense	257068				intracellular signal transduction|lipid catabolic process		phospholipase C activity|signal transducer activity	g.chr3:111426980C>T	AK056141	CCDS2961.1, CCDS54619.1	3q13.2	2004-09-09			ENSG00000240891	ENSG00000240891			26462	protein-coding gene	gene with protein product							Standard	NM_001185106		Approved	FLJ31579	uc003dxz.3	Q0VAA5	OTTHUMG00000159279	ENST00000477665.1:c.371C>T	3.37:g.111426980C>T	ENSP00000420686:p.Ala124Val					PLCXD2_ENST00000477665.1_Missense_Mutation_p.A124V	p.A124V	NM_153268.3	NP_695000.1	Q0VAA5	PLCX2_HUMAN			2	941	+			124			PI-PLC X-box.		Q96N12	Missense_Mutation	SNP	ENST00000477665.1	37	c.371C>T	CCDS54619.1	.	.	.	.	.	.	.	.	.	.	C	14.04	2.417211	0.42918	.	.	ENSG00000240891	ENST00000393934;ENST00000477665;ENST00000468174	.	.	.	5.77	3.94	0.45596	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);Phospholipase C, phosphatidylinositol-specific , X domain (2);	.	.	.	.	T	0.44477	0.1295	M	0.67397	2.05	0.09310	N	1	B;B;B	0.10296	0.0;0.003;0.001	B;B;B	0.10450	0.001;0.005;0.003	T	0.34079	-0.9843	8	0.26408	T	0.33	-3.9666	9.1471	0.36939	0.1463:0.7767:0.0:0.077	.	34;124;124	C9JB87;Q0VAA5;Q0VAA5-2	.;PLCX2_HUMAN;.	V	124;124;34	.	ENSP00000377511:A124V	A	+	2	0	PLCXD2	112909670	0.000000	0.05858	0.001000	0.08648	0.856000	0.48823	0.446000	0.21694	0.853000	0.35312	-0.140000	0.14226	GCC		0.507	PLCXD2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000354322.1	NM_153268		4	97	0	0	0	1	0	4	97					T	111426980	C	T	111426980	3	4	418	1	0	0	0	0	1	0	0	0	12042	739	26	3	377	3	PLCXD2	3	111426980	Missense_Mutation	SNP	C	TCGA-VP-A87H-01A-11D-A34U-08	70160879	111426980	86595450	6	20250											
TAGLN3	29114	broad.mit.edu	37	chr3	111719684	111719684	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccatacccaagatctcagaGtcaaagatggcttttaagca	14	9	7	11	0	2	3	2	0	1	3	3	3	2	3	2	1	2	2	2	1	4	3			TCGA-VP-A87H-01A-11D-A34U-08	TCGA-VP-A87H-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83d97b01-92e2-41d7-acca-2d96a560970b	d500dcf5-dcd0-4372-b69e-011974798a94	g.chr3:111719684G>C	ENST00000393917.2	+	3	798	c.246G>C	c.(244-246)gaG>gaC	p.E82D	TAGLN3_ENST00000478951.1_Missense_Mutation_p.E82D|TAGLN3_ENST00000486460.1_5'UTR|TAGLN3_ENST00000273368.4_Missense_Mutation_p.E82D|TAGLN3_ENST00000455401.2_Missense_Mutation_p.E82D	NM_013259.2	NP_037391.2	Q9UI15	TAGL3_HUMAN	transgelin 3	82	CH. {ECO:0000255|PROSITE- ProRule:PRU00044}.				central nervous system development (GO:0007417)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	nucleus (GO:0005634)				endometrium(2)|lung(5)|urinary_tract(1)	8						AGATCTCAGAGTCAAAGATGG	0.478																																						ENST00000393917.2																			0				endometrium(2)|lung(5)|urinary_tract(1)	8						c.(244-246)gaG>gaC		transgelin 3							182	183	183					3																	111719684		2203	4300	6503	SO:0001583	missense	29114				central nervous system development|muscle organ development			g.chr3:111719684G>C	AF303058	CCDS33816.1	3q13.2	2008-02-05			ENSG00000144834	ENSG00000144834			29868	protein-coding gene	gene with protein product		607953				8015377, 11238712	Standard	NM_013259		Approved	NP25, NP22	uc003dyo.3	Q9UI15	OTTHUMG00000159281	ENST00000393917.2:c.246G>C	3.37:g.111719684G>C	ENSP00000377494:p.Glu82Asp					TAGLN3_ENST00000273368.4_Missense_Mutation_p.E82D|TAGLN3_ENST00000478951.1_Missense_Mutation_p.E82D|TAGLN3_ENST00000486460.1_5'UTR|TAGLN3_ENST00000455401.2_Missense_Mutation_p.E82D	p.E82D	NM_013259.2	NP_037391.2	Q9UI15	TAGL3_HUMAN			3	798	+			82			CH.		D3DN64|Q96A74	Missense_Mutation	SNP	ENST00000393917.2	37	c.246G>C	CCDS33816.1	.	.	.	.	.	.	.	.	.	.	G	12.01	1.810621	0.32053	.	.	ENSG00000144834	ENST00000478951;ENST00000393917;ENST00000273368;ENST00000540095;ENST00000455401;ENST00000469385	T;T;T;T;D	0.95137	0.2;0.2;0.2;0.2;-3.62	5.85	3.11	0.35812	Calponin homology domain (5);	0.000000	0.85682	D	0.000000	D	0.89273	0.6668	L	0.52011	1.625	0.48288	D	0.99962	B	0.02656	0.0	B	0.09377	0.004	T	0.78740	-0.2086	10	0.18710	T	0.47	-11.3828	4.5502	0.12108	0.3029:0.0:0.5535:0.1437	.	82	Q9UI15	TAGL3_HUMAN	D	82;82;82;82;82;22	ENSP00000419105:E82D;ENSP00000377494:E82D;ENSP00000273368:E82D;ENSP00000391160:E82D;ENSP00000420346:E22D	ENSP00000273368:E82D	E	+	3	2	TAGLN3	113202374	1.000000	0.71417	0.997000	0.53966	0.986000	0.74619	1.066000	0.30604	0.391000	0.25143	0.650000	0.86243	GAG		0.478	TAGLN3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354331.1	NM_013259		4	243	0	0	0	1	0	4	243					C	111719684	G	C	111719684	3	2	418	1	0	0	0	0	1	0	0	0	15537	1020	36	5	252	5	TAGLN3	3	111719684	Missense_Mutation	SNP	G	TCGA-VP-A87H-01A-11D-A34U-08	292704	111719684	86302746	7	20251											
ZNF148	7707	broad.mit.edu	37	chr3	124997998	124997998	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagacatgtctctgtaagtGatagttcgttctaaaggcag	12	12	11	6	1	2	2	0	1	2	1	4	3	2	2	0	1	0	4	0	1	5	5			TCGA-VP-A87H-01A-11D-A34U-08	TCGA-VP-A87H-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83d97b01-92e2-41d7-acca-2d96a560970b	d500dcf5-dcd0-4372-b69e-011974798a94	g.chr3:124997998G>T	ENST00000360647.4	-	6	1038	c.553C>A	c.(553-555)Cac>Aac	p.H185N	SLC12A8_ENST00000423114.2_Silent_p.I8I|ZNF148_ENST00000484491.1_Missense_Mutation_p.H185N|ZNF148_ENST00000468369.1_Intron|ZNF148_ENST00000544464.1_Intron|ZNF148_ENST00000492394.1_Missense_Mutation_p.H185N|ZNF148_ENST00000497929.1_5'UTR|ZNF148_ENST00000485866.1_Missense_Mutation_p.H185N	NM_021964.2	NP_068799.2	Q9UQR1	ZN148_HUMAN	zinc finger protein 148	185					cellular defense response (GO:0006968)|gamete generation (GO:0007276)|negative regulation of gene expression (GO:0010629)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein complex assembly (GO:0006461)|substantia nigra development (GO:0021762)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			breast(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(3)|liver(1)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3)	28						CTCTGTAAGTGATAGTTCGTT	0.358																																						ENST00000360647.4																			0				breast(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(3)|liver(1)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3)	28						c.(553-555)Cac>Aac		zinc finger protein 148							154	159	157					3																	124997998		2203	4300	6503	SO:0001583	missense	7707				cellular defense response|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	Golgi apparatus|nucleus	protein binding|sequence-specific DNA binding|zinc ion binding	g.chr3:124997998G>T	U09851	CCDS3031.1	3q21.2	2013-01-08	2006-06-13		ENSG00000163848	ENSG00000163848		"Zinc fingers, C2H2-type"	12933	protein-coding gene	gene with protein product		601897	"zinc finger protein 148 (pHZ-52)"			7557990, 9925940	Standard	NM_021964		Approved	BERF-1, ZBP-89, BFCOL1, HT-BETA, ZFP148, pHZ-52	uc003ehx.4	Q9UQR1	OTTHUMG00000159448	ENST00000360647.4:c.553C>A	3.37:g.124997998G>T	ENSP00000353863:p.His185Asn					SLC12A8_ENST00000423114.2_Silent_p.I8I|ZNF148_ENST00000544464.1_Intron|ZNF148_ENST00000497929.1_5'UTR|ZNF148_ENST00000492394.1_Missense_Mutation_p.H185N|ZNF148_ENST00000484491.1_Missense_Mutation_p.H185N|ZNF148_ENST00000468369.1_Intron|ZNF148_ENST00000485866.1_Missense_Mutation_p.H185N	p.H185N	NM_021964.2	NP_068799.2	Q9UQR1	ZN148_HUMAN			6	1038	-			185					D3DN27|O00389|O43591|Q58EY5|Q6PJ98	Missense_Mutation	SNP	ENST00000360647.4	37	c.553C>A	CCDS3031.1	.	.	.	.	.	.	.	.	.	.	G	24.6	4.547458	0.86022	.	.	ENSG00000163848	ENST00000360647;ENST00000484491;ENST00000492394;ENST00000485866;ENST00000543574	T;T;T;T	0.13196	2.61;2.61;2.61;2.61	5.03	5.03	0.67393	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.24314	0.0589	N	0.16478	0.41	0.80722	D	1	D	0.69078	0.997	D	0.77004	0.989	T	0.09037	-1.0693	10	0.62326	D	0.03	-10.8609	18.5398	0.91023	0.0:0.0:1.0:0.0	.	185	Q9UQR1	ZN148_HUMAN	N	185	ENSP00000353863:H185N;ENSP00000420335:H185N;ENSP00000419322:H185N;ENSP00000420448:H185N	ENSP00000353863:H185N	H	-	1	0	ZNF148	126480688	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.263000	0.95617	2.616000	0.88540	0.585000	0.79938	CAC		0.358	ZNF148-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355452.4	NM_021964		40	57	1	0	8.16277e-20	1	9.09036e-20	40	57					T	124997998	G	T	124997998	3	4	418	1	0	0	0	0	1	0	0	0	17731	1290	45	5	1847	5	ZNF148	3	124997998	Missense_Mutation	SNP	G	TCGA-VP-A87H-01A-11D-A34U-08	13278314	124997998	73024432	8	20252											
PIK3CA	5290	broad.mit.edu	37	chr3	178936082	178936082	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctacacgagatcctctctctGaaatcactgagcaggagaaa	14	8	8	11	1	3	4	1	2	2	2	5	6	4	4	1	1	2	1	1	1	3	1	rs121913273		TCGA-VP-A87H-01A-11D-A34U-08	TCGA-VP-A87H-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83d97b01-92e2-41d7-acca-2d96a560970b	d500dcf5-dcd0-4372-b69e-011974798a94	g.chr3:178936082G>A	ENST00000263967.3	+	10	1781	c.1624G>A	c.(1624-1626)Gaa>Aaa	p.E542K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	542	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.		E -> K (in CLOVE, KERSEB, CRC and BC; also found in glioblastoma multiforme and endometrial carcinoma; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N- terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation). {ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15784156, ECO:0000269|PubMed:15924253, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:16353168, ECO:0000269|PubMed:16533766, ECO:0000269|PubMed:17673550, ECO:0000269|PubMed:22658544}.|E -> Q (found in an endometrial carcinoma sample; unknown pathological significance). {ECO:0000269|PubMed:16322209}.|E -> V (in BC; unknown pathological significance). {ECO:0000269|PubMed:16353168}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.E542K(545)|p.E542Q(10)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	TCCTCTCTCTGAAATCACTGA	0.333	E542K(BT483_BREAST)|E542K(CAL51_BREAST)|E542K(HGC27_STOMACH)|E542K(IM95_STOMACH)|E542K(JHUEM1_ENDOMETRIUM)|E542K(NCIH1341_LUNG)|E542K(SW948_LARGE_INTESTINE)|E542K(T84_LARGE_INTESTINE)|E542K(VMCUB1_URINARY_TRACT)	57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	ENST00000263967.3	E542K(BT483_BREAST)|E542K(CAL51_BREAST)|E542K(HGC27_STOMACH)|E542K(IM95_STOMACH)|E542K(JHUEM1_ENDOMETRIUM)|E542K(NCIH1341_LUNG)|E542K(SW948_LARGE_INTESTINE)|E542K(T84_LARGE_INTESTINE)|E542K(VMCUB1_URINARY_TRACT)	57		Dom	yes		3	3q26.3	5290	Mis	"phosphoinositide-3-kinase, catalytic, alpha polypeptide"			"E, O"			"colorectal, gastric, gliobastoma, breast"		555	Substitution - Missense(555)	p.E542K(545)|p.E542Q(10)	breast(176)|large_intestine(166)|urinary_tract(45)|endometrium(37)|skin(19)|lung(18)|stomach(16)|ovary(16)|thyroid(14)|upper_aerodigestive_tract(9)|central_nervous_system(7)|cervix(6)|liver(6)|oesophagus(5)|penis(4)|kidney(3)|soft_tissue(2)|haematopoietic_and_lymphoid_tissue(2)|prostate(2)|biliary_tract(1)|pituitary(1)	NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269						c.(1624-1626)Gaa>Aaa		phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha							56	56	56					3																	178936082		1809	4069	5878	SO:0001583	missense	5290				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	g.chr3:178936082G>A		CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"phosphoinositide-3-kinase, catalytic, alpha polypeptide"			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.1624G>A	3.37:g.178936082G>A	ENSP00000263967:p.Glu542Lys	HNSCC(19;0.045)|TSP Lung(28;0.18)					p.E542K	NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		10	1781	+	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		542		E -> K (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation).|E -> Q (in cancer).|E -> V (in cancer).	PI3K helical.		Q14CW1|Q99762	Missense_Mutation	SNP	ENST00000263967.3	37	c.1624G>A	CCDS43171.1	.	.	.	.	.	.	.	.	.	.	G	34	5.360420	0.95877	.	.	ENSG00000121879	ENST00000263967	T	0.62105	0.05	5.78	5.78	0.91487	Phosphoinositide 3-kinase, accessory (PIK) domain (3);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.69287	0.3094	L	0.41356	1.27	0.80722	D	1	D	0.65815	0.995	D	0.63192	0.912	T	0.60296	-0.7291	10	0.09843	T	0.71	-23.9623	20.0024	0.97423	0.0:0.0:1.0:0.0	.	542	P42336	PK3CA_HUMAN	K	542	ENSP00000263967:E542K	ENSP00000263967:E542K	E	+	1	0	PIK3CA	180418776	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	9.476000	0.97823	2.722000	0.93159	0.467000	0.42956	GAA		0.333	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2			8	34	0	0	0	1	0	8	34					A	178936082	G	A	178936082	3	1	418	1	0	0	0	0	1	0	0	0	11913	1291	45	3	1658	3	PIK3CA	3	178936082	Missense_Mutation	SNP	G	TCGA-VP-A87H-01A-11D-A34U-08	53938084	178936082	19086348	9	20253											
SLIT2	9353	broad.mit.edu	37	chr4	20525792	20525792	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gatcaaaagcaagaaattccGttgttcaggtaatttcttca	14	13	7	7	1	4	1	3	0	1	1	5	2	5	1	1	1	1	4	1	1	5	6	rs192894188		TCGA-VP-A87H-01A-11D-A34U-08	TCGA-VP-A87H-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83d97b01-92e2-41d7-acca-2d96a560970b	d500dcf5-dcd0-4372-b69e-011974798a94	g.chr4:20525792G>A	ENST00000504154.1	+	14	1682	c.1430G>A	c.(1429-1431)cGt>cAt	p.R477H	SLIT2_ENST00000503823.1_Missense_Mutation_p.R477H|SLIT2_ENST00000273739.5_Missense_Mutation_p.R481H|SLIT2_ENST00000503837.1_Missense_Mutation_p.R481H	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	477	LRRCT 2.				apoptotic process involved in luteolysis (GO:0061364)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|branching morphogenesis of an epithelial tube (GO:0048754)|cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to heparin (GO:0071504)|cellular response to hormone stimulus (GO:0032870)|chemorepulsion involved in postnatal olfactory bulb interneuron migration (GO:0021836)|corticospinal neuron axon guidance through spinal cord (GO:0021972)|dorsal/ventral axon guidance (GO:0033563)|in utero embryonic development (GO:0001701)|induction of negative chemotaxis (GO:0050929)|mammary duct terminal end bud growth (GO:0060763)|metanephros development (GO:0001656)|motor neuron axon guidance (GO:0008045)|negative chemotaxis (GO:0050919)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of axon extension (GO:0030517)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cellular response to growth factor stimulus (GO:0090288)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of gene expression (GO:0010629)|negative regulation of lamellipodium assembly (GO:0010593)|negative regulation of leukocyte chemotaxis (GO:0002689)|negative regulation of monocyte chemotaxis (GO:0090027)|negative regulation of mononuclear cell migration (GO:0071676)|negative regulation of neutrophil chemotaxis (GO:0090024)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of retinal ganglion cell axon guidance (GO:0090260)|negative regulation of small GTPase mediated signal transduction (GO:0051058)|negative regulation of smooth muscle cell chemotaxis (GO:0071672)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of vascular permeability (GO:0043116)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axonogenesis (GO:0050772)|response to cortisol (GO:0051414)|retinal ganglion cell axon guidance (GO:0031290)|Roundabout signaling pathway (GO:0035385)|single organismal cell-cell adhesion (GO:0016337)|ureteric bud development (GO:0001657)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|chemorepellent activity (GO:0045499)|GTPase inhibitor activity (GO:0005095)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|laminin-1 binding (GO:0043237)|protein homodimerization activity (GO:0042803)|proteoglycan binding (GO:0043394)|Roundabout binding (GO:0048495)			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						AAGAAATTCCGTTGTTCAGGT	0.478													G|||	1	0.000199681	8e-04	0	5008	,	,		17529	0		0	False		,,,				2504	0					ENST00000504154.1																			0				NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						c.(1429-1431)cGt>cAt		slit homolog 2 (Drosophila)							86	98	94					4																	20525792		2203	4300	6503	SO:0001583	missense	9353				apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding	g.chr4:20525792G>A	AF055585	CCDS3426.1, CCDS75110.1, CCDS75111.1	4p15.2	2008-08-01	2001-11-28		ENSG00000145147	ENSG00000145147			11086	protein-coding gene	gene with protein product		603746	"slit (Drosophila) homolog 2"	SLIL3		9813312, 18269211	Standard	XM_005248211		Approved	Slit-2	uc003gpr.1	O94813	OTTHUMG00000128551	ENST00000504154.1:c.1430G>A	4.37:g.20525792G>A	ENSP00000422591:p.Arg477His					SLIT2_ENST00000503837.1_Missense_Mutation_p.R481H|SLIT2_ENST00000503823.1_Missense_Mutation_p.R477H|SLIT2_ENST00000273739.5_Missense_Mutation_p.R481H	p.R477H	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN			14	1682	+			477			LRRCT 2.		B7ZLR5|O95710|Q17RU3|Q9Y5Q7	Missense_Mutation	SNP	ENST00000504154.1	37	c.1430G>A	CCDS3426.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	34	5.335323	0.95758	.	.	ENSG00000145147	ENST00000503823;ENST00000504154;ENST00000273739;ENST00000382173;ENST00000503837	T;T;T;T	0.81163	-1.45;-1.46;-1.37;-1.43	5.93	5.93	0.95920	Cysteine-rich flanking region, C-terminal (2);	0.000000	0.85682	D	0.000000	D	0.88097	0.6345	L	0.50919	1.6	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.76575	0.987;0.988	D	0.87886	0.2681	10	0.72032	D	0.01	.	20.3368	0.98748	0.0:0.0:1.0:0.0	.	477;477	O94813-3;O94813	.;SLIT2_HUMAN	H	477;477;481;481;481	ENSP00000427548:R477H;ENSP00000422591:R477H;ENSP00000273739:R481H;ENSP00000422261:R481H	ENSP00000273739:R481H	R	+	2	0	SLIT2	20134890	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.807000	0.99171	2.805000	0.96524	0.655000	0.94253	CGT		0.478	SLIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250396.2			4	60	0	0	0	1	0	4	60					A	20525792	G	A	20525792	3	1	418	1	0	0	0	0	1	0	0	0	14740	1145	40	1	1484	1	SLIT2	4	20525792	Missense_Mutation	SNP	G	TCGA-VP-A87H-01A-11D-A34U-08		20525792	170628484	10	20254											
DDX60	55601	broad.mit.edu	37	chr4	169196591	169196591	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	catgtattgcagttggaaccGagctggcccaatgccaactg	10	9	11	11	1	0	0	0	0	0	0	0	2	0	1	3	2	5	4	3	2	4	3			TCGA-VP-A87H-01A-11D-A34U-08	TCGA-VP-A87H-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83d97b01-92e2-41d7-acca-2d96a560970b	d500dcf5-dcd0-4372-b69e-011974798a94	g.chr4:169196591G>A	ENST00000393743.3	-	16	2500	c.2209C>T	c.(2209-2211)Cgg>Tgg	p.R737W		NM_017631.5	NP_060101.3	Q8IY21	DDX60_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60	737					defense response to virus (GO:0051607)|innate immune response (GO:0045087)|positive regulation of MDA-5 signaling pathway (GO:1900245)|positive regulation of RIG-I signaling pathway (GO:1900246)|response to virus (GO:0009615)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)	ATP binding (GO:0005524)|double-stranded DNA binding (GO:0003690)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|single-stranded RNA binding (GO:0003727)	p.R737W(2)		breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|urinary_tract(4)	63		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.0485)		AGTTGGAACCGAGCTGGCCCA	0.393																																						ENST00000393743.3																			2	Substitution - Missense(2)	p.R737W(2)	central_nervous_system(2)	breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|urinary_tract(4)	63						c.(2209-2211)Cgg>Tgg		DEAD (Asp-Glu-Ala-Asp) box polypeptide 60							100	97	98					4																	169196591		2203	4300	6503	SO:0001583	missense	55601						ATP binding|ATP-dependent helicase activity|RNA binding	g.chr4:169196591G>A	AK001649	CCDS34097.1	4q32.3	2010-02-17			ENSG00000137628	ENSG00000137628			25942	protein-coding gene	gene with protein product		613974				12477932	Standard	NM_017631		Approved	FLJ20035	uc003irp.3	Q8IY21	OTTHUMG00000161350	ENST00000393743.3:c.2209C>T	4.37:g.169196591G>A	ENSP00000377344:p.Arg737Trp						p.R737W	NM_017631.5	NP_060101.3	Q8IY21	DDX60_HUMAN		GBM - Glioblastoma multiforme(119;0.0485)	16	2500	-		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)	737					Q6PK35|Q9NVE3	Missense_Mutation	SNP	ENST00000393743.3	37	c.2209C>T	CCDS34097.1	.	.	.	.	.	.	.	.	.	.	G	16.62	3.174401	0.57692	.	.	ENSG00000137628	ENST00000393743	T	0.19532	2.14	5.37	2.62	0.31277	.	0.102711	0.43110	D	0.000614	T	0.30885	0.0779	L	0.32530	0.975	0.33200	D	0.552031	D	0.89917	1.0	D	0.97110	1.0	T	0.35992	-0.9766	10	0.56958	D	0.05	.	8.9432	0.35742	0.0699:0.0:0.6638:0.2663	.	737	Q8IY21	DDX60_HUMAN	W	737	ENSP00000377344:R737W	ENSP00000377344:R737W	R	-	1	2	DDX60	169433166	1.000000	0.71417	0.267000	0.24556	0.683000	0.39861	3.490000	0.53245	0.297000	0.22615	0.563000	0.77884	CGG		0.393	DDX60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364622.1	NM_017631		15	44	0	0	0	1	0	15	44					A	169196591	G	A	169196591	3	1	418	1	0	0	0	0	1	0	0	0	4378	1057	37	2	3021	2	DDX60	4	169196591	Missense_Mutation	SNP	G	TCGA-VP-A87H-01A-11D-A34U-08	148670799	169196591	21957685	11	20255											
FAT1	2195	broad.mit.edu	37	chr4	187525553	187525554	+	Frame_Shift_Del	DEL	TC	TC	-																															tcacctgcagtaagtaatgaTctttctccttcctcttgatg																										TCGA-VP-A87H-01A-11D-A34U-08	TCGA-VP-A87H-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83d97b01-92e2-41d7-acca-2d96a560970b	d500dcf5-dcd0-4372-b69e-011974798a94	g.chr4:187525553_187525554delTC	ENST00000441802.2	-	18	10734_10735	c.10525_10526delGA	c.(10525-10527)gatfs	p.D3509fs		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	3509	Cadherin 32. {ECO:0000255|PROSITE- ProRule:PRU00043}.				actin filament organization (GO:0007015)|anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						TAAGTAATGATCTTTCTCCTTC	0.431										HNSCC(5;0.00058)																											Colon(197;1040 2055 4143 4984 49344)	ENST00000441802.2																			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						c.(10525-10527)tfs		FAT atypical cadherin 1																																				SO:0001589	frameshift_variant	2195				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding	g.chr4:187525553_187525554delTC	X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857		"Cadherins / Cadherin-related"	3595	protein-coding gene	gene with protein product	"cadherin-related family member 8"	600976	"FAT tumor suppressor (Drosophila) homolog", "FAT tumor suppressor homolog 1 (Drosophila)"	FAT		8586420	Standard	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.10525_10526delGA	4.37:g.187525553_187525554delTC	ENSP00000406229:p.Asp3509fs	HNSCC(5;0.00058)					p.D3509fs	NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN			18	10734_10735	-			3509			Cadherin 32.			Frame_Shift_Del	DEL	ENST00000441802.2	37	c.10525_10526delGA	CCDS47177.1																																																																																				0.431	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3	NM_005245		9	36						9	36	---	---	---	---	-	187525554	TC	-	187525553	7	5	418	1	0	1	0	1	0	0	0	0	5689	1435	50	0	3280	0	FAT1	4	187525553	Frame_Shift_Del	DEL	TC	TCGA-VP-A87H-01A-11D-A34U-08	18328962	187525553	3628723	12	20256											
OR2V2	285659	broad.mit.edu	37	chr5	180582423	180582423	+	Frame_Shift_Del	DEL	A	A	-																															taatcgatggcttgatccagAtggtggtagtaatgaatttc																										TCGA-VP-A87H-01A-11D-A34U-08	TCGA-VP-A87H-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83d97b01-92e2-41d7-acca-2d96a560970b	d500dcf5-dcd0-4372-b69e-011974798a94	g.chr5:180582423delA	ENST00000328275.1	+	1	481	c.481delA	c.(481-483)atgfs	p.M161fs		NM_206880.1	NP_996763.1	Q96R30	OR2V2_HUMAN	olfactory receptor, family 2, subfamily V, member 2	161						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20	all_cancers(89;8.26e-06)|all_epithelial(37;1.02e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684)	all_cancers(40;0.0103)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.0652)|all_lung(500;0.149)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CTTGATCCAGATGGTGGTAGT	0.488																																						ENST00000328275.1																			0				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						c.(481-483)tgfs		olfactory receptor, family 2, subfamily V, member 2							236	226	229					5																	180582423		2203	4300	6503	SO:0001589	frameshift_variant	285659				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr5:180582423delA	AL161615	CCDS4461.1	5q35.3	2012-08-09			ENSG00000182613	ENSG00000182613		"GPCR / Class A : Olfactory receptors"	15341	protein-coding gene	gene with protein product				OR2V3			Standard	NM_206880		Approved	OST713	uc011dhj.2	Q96R30	OTTHUMG00000130933	ENST00000328275.1:c.481delA	5.37:g.180582423delA	ENSP00000332185:p.Met161fs						p.M161fs	NM_206880.1	NP_996763.1	Q96R30	OR2V2_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		1	481	+	all_cancers(89;8.26e-06)|all_epithelial(37;1.02e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684)	all_cancers(40;0.0103)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.0652)|all_lung(500;0.149)	161					Q6IFL6|Q8NGV1	Frame_Shift_Del	DEL	ENST00000328275.1	37	c.481delA	CCDS4461.1																																																																																				0.488	OR2V2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253529.1			39	126						39	126	---	---	---	---	-	180582423	A	-	180582423	7	5	418	1	0	1	0	1	0	0	0	0	11031	333	12	0	483	0	OR2V2	5	180582423	Frame_Shift_Del	DEL	A	TCGA-VP-A87H-01A-11D-A34U-08		180582423	332837	13	20257											
CRISP3	10321	broad.mit.edu	37	chr6	49703225	49703225	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taatttacatacttgtcattCgatcctttgggttactgtgt	8	19	7	7	1	1	0	1	0	0	0	3	1	2	0	1	1	3	1	1	1	4	8	rs144478251	byFrequency	TCGA-VP-A87H-01A-11D-A34U-08	TCGA-VP-A87H-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83d97b01-92e2-41d7-acca-2d96a560970b	d500dcf5-dcd0-4372-b69e-011974798a94	g.chr6:49703225C>A	ENST00000393666.1	-	3	275	c.269G>T	c.(268-270)cGa>cTa	p.R90L	CRISP3_ENST00000423399.2_5'UTR|CRISP3_ENST00000263045.4_Missense_Mutation_p.R103L|CRISP3_ENST00000371159.4_Missense_Mutation_p.R121L|CRISP3_ENST00000433368.2_Missense_Mutation_p.R113L			P54108	CRIS3_HUMAN	cysteine-rich secretory protein 3	90	SCP.				defense response (GO:0006952)|innate immune response (GO:0045087)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|specific granule (GO:0042581)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(14)|skin(6)|upper_aerodigestive_tract(1)	27	Lung NSC(77;0.0161)		KIRC - Kidney renal clear cell carcinoma(2;0.106)|Kidney(12;0.156)			ACTTGTCATTCGATCCTTTGG	0.328																																						ENST00000433368.2																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(14)|skin(6)|upper_aerodigestive_tract(1)	27						c.(337-339)cGa>cTa		cysteine-rich secretory protein 3							134	127	129					6																	49703225		2203	4300	6503	SO:0001583	missense	10321				innate immune response	proteinaceous extracellular matrix|specific granule		g.chr6:49703225C>A	X94323	CCDS4929.1, CCDS4929.2, CCDS55019.1	6p12.3	2008-02-05			ENSG00000096006	ENSG00000096006			16904	protein-coding gene	gene with protein product						8665901, 12223513	Standard	NM_006061		Approved	SGP28, CRISP-3, CRS3, dJ442L6.3, Aeg2	uc003ozs.3	P54108	OTTHUMG00000014823	ENST00000393666.1:c.269G>T	6.37:g.49703225C>A	ENSP00000377274:p.Arg90Leu					CRISP3_ENST00000423399.2_5'UTR|CRISP3_ENST00000393666.1_Missense_Mutation_p.R90L|CRISP3_ENST00000263045.4_Missense_Mutation_p.R103L|CRISP3_ENST00000371159.4_Missense_Mutation_p.R121L	p.R113L	NM_001190986.1	NP_001177915.1	P54108	CRIS3_HUMAN	KIRC - Kidney renal clear cell carcinoma(2;0.106)|Kidney(12;0.156)		4	407	-	Lung NSC(77;0.0161)		90					A8K9S1|B2R8I8|Q15512|Q3MJ82|Q53FA9|Q5JW83|Q9H108	Missense_Mutation	SNP	ENST00000393666.1	37	c.338G>T		.	.	.	.	.	.	.	.	.	.	C	14.98	2.698494	0.48307	.	.	ENSG00000096006	ENST00000263045;ENST00000433368;ENST00000393666;ENST00000371159;ENST00000354620	T;T;T;T;T	0.07800	3.16;3.16;3.16;3.16;3.16	4.33	3.46	0.39613	CAP domain (3);	0.000000	0.64402	U	0.000015	T	0.17195	0.0413	M	0.89968	3.075	0.22354	N	0.99918	D	0.89917	1.0	D	0.79784	0.993	T	0.09335	-1.0679	10	0.36615	T	0.2	.	8.445	0.32836	0.0:0.8873:0.0:0.1126	.	90	P54108	CRIS3_HUMAN	L	103;113;90;121;113	ENSP00000263045:R103L;ENSP00000389026:R113L;ENSP00000377274:R90L;ENSP00000360201:R121L;ENSP00000346636:R113L	ENSP00000263045:R103L	R	-	2	0	CRISP3	49811184	0.007000	0.16637	0.001000	0.08648	0.004000	0.04260	1.713000	0.37951	0.936000	0.37367	0.462000	0.41574	CGA		0.328	CRISP3-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_006061		35	100	1	0	5.8336e-16	1	6.35215e-16	35	100					A	49703225	C	A	49703225	3	1	418	1	0	0	0	0	1	0	0	0	3881	884	31	5	488	5	CRISP3	6	49703225	Missense_Mutation	SNP	C	TCGA-VP-A87H-01A-11D-A34U-08		49703225	121411842	14	20258											
ASNS	440	broad.mit.edu	37	chr7	97488604	97488604	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgatatttaaccatttccacGgatgcaactttgccatttgg	10	15	7	9	1	0	1	0	1	0	0	1	2	1	2	3	2	4	1	3	2	3	6	rs527301530	byFrequency	TCGA-VP-A87H-01A-11D-A34U-08	TCGA-VP-A87H-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83d97b01-92e2-41d7-acca-2d96a560970b	d500dcf5-dcd0-4372-b69e-011974798a94	g.chr7:97488604G>A	ENST00000394309.3	-	5	1065	c.594C>T	c.(592-594)tcC>tcT	p.S198S	ASNS_ENST00000444334.1_Silent_p.S177S|ASNS_ENST00000455086.1_Silent_p.S115S|ASNS_ENST00000394308.3_Silent_p.S198S|ASNS_ENST00000175506.4_Silent_p.S198S|ASNS_ENST00000437628.1_Silent_p.S115S|ASNS_ENST00000422745.1_Silent_p.S177S	NM_133436.3	NP_597680.2	P08243	ASNS_HUMAN	asparagine synthetase (glutamine-hydrolyzing)	198					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|asparagine biosynthetic process (GO:0006529)|cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|cellular protein metabolic process (GO:0044267)|cellular response to glucose starvation (GO:0042149)|cellular response to hormone stimulus (GO:0032870)|endoplasmic reticulum unfolded protein response (GO:0030968)|glutamine metabolic process (GO:0006541)|L-asparagine biosynthetic process (GO:0070981)|liver development (GO:0001889)|negative regulation of apoptotic process (GO:0043066)|positive regulation of mitotic cell cycle (GO:0045931)|response to amino acid (GO:0043200)|response to follicle-stimulating hormone (GO:0032354)|response to light stimulus (GO:0009416)|response to mechanical stimulus (GO:0009612)|response to methotrexate (GO:0031427)|response to toxic substance (GO:0009636)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	asparagine synthase (glutamine-hydrolyzing) activity (GO:0004066)|ATP binding (GO:0005524)|cofactor binding (GO:0048037)			ovary(1)	1	all_cancers(62;6.64e-09)|all_epithelial(64;1.58e-09)|Esophageal squamous(72;0.00448)|Lung NSC(181;0.0342)|all_lung(186;0.0369)				Adenosine triphosphate(DB00171)|L-Asparagine(DB00174)|L-Aspartic Acid(DB00128)|L-Glutamine(DB00130)	CCATTTCCACGGATGCAACTT	0.458													G|||	3	0.000599042	0	0	5008	,	,		17540	0.002		0.001	False		,,,				2504	0				Melanoma(70;6 1280 3108 3799 51123)|GBM(6;275 291 425 9929 27738)	ENST00000175506.4																			0				ovary(1)	1						c.(592-594)tcC>tcT		asparagine synthetase (glutamine-hydrolyzing)	Adenosine triphosphate(DB00171)|L-Asparagine(DB00174)|L-Aspartic Acid(DB00128)|L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)						114	116	115					7																	97488604		2203	4300	6503	SO:0001819	synonymous_variant	440				cellular response to glucose starvation|glutamine metabolic process|negative regulation of apoptosis|positive regulation of mitotic cell cycle	cytosol|soluble fraction	asparagine synthase (glutamine-hydrolyzing) activity|ATP binding	g.chr7:97488604G>A	M27396	CCDS5652.1, CCDS55131.1, CCDS55132.1	7q21.3	2012-10-02	2010-05-07		ENSG00000070669	ENSG00000070669	6.3.5.4		753	protein-coding gene	gene with protein product		108370	"asparagine synthetase"				Standard	NM_001673		Approved		uc003uov.4	P08243	OTTHUMG00000022892	ENST00000394309.3:c.594C>T	7.37:g.97488604G>A						ASNS_ENST00000394308.3_Silent_p.S198S|ASNS_ENST00000437628.1_Silent_p.S115S|ASNS_ENST00000394309.3_Silent_p.S198S|ASNS_ENST00000444334.1_Silent_p.S177S|ASNS_ENST00000422745.1_Silent_p.S177S|ASNS_ENST00000455086.1_Silent_p.S115S	p.S198S	NM_183356.3	NP_899199.2	P08243	ASNS_HUMAN			6	1122	-	all_cancers(62;6.64e-09)|all_epithelial(64;1.58e-09)|Esophageal squamous(72;0.00448)|Lung NSC(181;0.0342)|all_lung(186;0.0369)		198					A4D1I8|B4DXZ1|B7ZAA9|D6W5R3|E9PCI3|E9PCX6|P08184|Q15666|Q549T9|Q96HD0	Silent	SNP	ENST00000394309.3	37	c.594C>T	CCDS5652.1																																																																																				0.458	ASNS-007	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333645.1	NM_001673, NM_183356		30	79	0	0	0	1	0	30	79					A	97488604	G	A	97488604	2	1	418	1	0	0	0	0	0	0	0	1	1048	1103	39	2		2	ASNS	7	97488604	Silent	SNP	G	TCGA-VP-A87H-01A-11D-A34U-08		97488604	61650059	15	20259											
EMID2	136227	broad.mit.edu	37	chr7	101063356	101063356	+	RNA	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtaccagagctgccggtggcCggggccctgcgccaacctcg	5	5	15	16	4	0	1	0	0	0	1	1	1	0	1	6	4	5	2	6	4	2	1	rs79106047	byFrequency	TCGA-VP-A87H-01A-11D-A34U-08	TCGA-VP-A87H-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83d97b01-92e2-41d7-acca-2d96a560970b	d500dcf5-dcd0-4372-b69e-011974798a94	g.chr7:101063356C>T	ENST00000397927.3	+	0	470				COL26A1_ENST00000528707.1_RNA|COL26A1_ENST00000313669.7_RNA	NM_001278563.1	NP_001265492.1	Q96A83	COQA1_HUMAN	collagen, type XXVI, alpha 1						collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)											TGCCGGTGGCCGGGGCCCTGC	0.647													C|||	13	0.00259585	0	0.0014	5008	,	,		16743	0		0.004	False		,,,				2504	0.0082					ENST00000313669.7																			0													collagen, type XXVI, alpha 1		C	LEU/PRO	1,4031		0,1,2015	30	40	36		257	4.9	1	7	dbSNP_131	36	21,8301		0,21,4140	yes	missense	EMID2	NM_133457.2	98	0,22,6155	TT,TC,CC		0.2523,0.0248,0.1781	probably-damaging	86/440	101063356	22,12332	2016	4161	6177			136227							g.chr7:101063356C>T	AJ416091	CCDS64739.1	7q22.1	2013-01-16	2013-01-16	2013-01-16	ENSG00000160963	ENSG00000160963		"Collagens", "EMI domain containing"	18038	protein-coding gene	gene with protein product	"Emu2 gene"	608927	"EMI domain containing 2"	EMID2		12221002, 12145293	Standard	NM_001278563		Approved	Emu2, EMI6	uc003uyo.1	Q96A83	OTTHUMG00000150033		7.37:g.101063356C>T						COL26A1_ENST00000397927.3_RNA|COL26A1_ENST00000528707.1_RNA		NM_133457.2	NP_597714.2					0	449	+								Q32M90	RNA	SNP	ENST00000397927.3	37			4	0.0018315018315018315	0	0.0	1	0.0027624309392265192	0	0.0	3	0.00395778364116095	C	29.2	4.983927	0.93044	2.48E-4	0.002523	ENSG00000160963	ENST00000313669	T	0.46451	0.87	4.95	4.95	0.65309	EMI domain (2);	0.000000	0.36893	U	0.002352	T	0.62913	0.2467	M	0.66939	2.045	0.46954	D	0.999269	D;D	0.89917	1.0;1.0	D;D	0.79784	0.993;0.993	T	0.66968	-0.5789	10	0.87932	D	0	.	15.7219	0.77718	0.0:1.0:0.0:0.0	.	86;86	Q96A83;C9JPW4	EMID2_HUMAN;.	L	86	ENSP00000318234:P86L	ENSP00000318234:P86L	P	+	2	0	EMID2	100850076	1.000000	0.71417	0.997000	0.53966	0.989000	0.77384	7.166000	0.77553	2.310000	0.77875	0.558000	0.71614	CCG		0.647	COL26A1-002	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000315898.2	NM_133457		4	50	0	0	0	1	0	4	50					T	101063356	C	T	101063356	1	4	418	0	1	0	0	0	0	0	0	0	5092	652	23	2		2	EMID2	7	101063356	RNA	SNP	C	TCGA-VP-A87H-01A-11D-A34U-08	3574752	101063356	58075307	16	20260											
LONRF1	91694	broad.mit.edu	37	chr8	12586450	12586450	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	caatgtcggcagtgcaatatCcatctttcattcctcttttt	8	17	5	11	1	3	0	1	0	2	0	6	0	5	0	2	1	1	2	2	1	3	5			TCGA-VP-A87H-01A-11D-A34U-08	TCGA-VP-A87H-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83d97b01-92e2-41d7-acca-2d96a560970b	d500dcf5-dcd0-4372-b69e-011974798a94	g.chr8:12586450C>A	ENST00000398246.3	-	10	2039	c.1970G>T	c.(1969-1971)gGa>gTa	p.G657V	MIR3926-2_ENST00000578598.1_RNA|LONRF1_ENST00000533751.1_Missense_Mutation_p.G300V|LONRF1_ENST00000525024.1_Missense_Mutation_p.G83V	NM_152271.3	NP_689484.3	Q17RB8	LONF1_HUMAN	LON peptidase N-terminal domain and ring finger 1	657	Lon.						ATP-dependent peptidase activity (GO:0004176)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)|upper_aerodigestive_tract(2)	19				READ - Rectum adenocarcinoma(644;0.236)		AGTGCAATATCCATCTTTCAT	0.393																																						ENST00000398246.3																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)|upper_aerodigestive_tract(2)	19						c.(1969-1971)gGa>gTa		LON peptidase N-terminal domain and ring finger 1							186	175	178					8																	12586450		1862	4108	5970	SO:0001583	missense	91694				proteolysis		ATP-dependent peptidase activity|zinc ion binding	g.chr8:12586450C>A	AK074329	CCDS5987.2	8p23.1	2013-01-09			ENSG00000154359	ENSG00000154359		"RING-type (C3HC4) zinc fingers"	26302	protein-coding gene	gene with protein product						18253036	Standard	XM_005273685		Approved	FLJ23749, RNF191	uc003wwd.1	Q17RB8	OTTHUMG00000165475	ENST00000398246.3:c.1970G>T	8.37:g.12586450C>A	ENSP00000381298:p.Gly657Val					LONRF1_ENST00000533751.1_Missense_Mutation_p.G300V|LONRF1_ENST00000525024.1_Missense_Mutation_p.G83V	p.G657V	NM_152271.3	NP_689484.3	Q17RB8	LONF1_HUMAN		READ - Rectum adenocarcinoma(644;0.236)	10	2039	-			657			Lon.		B4DM29|B4DU84|Q8TEA0|Q9BSV1	Missense_Mutation	SNP	ENST00000398246.3	37	c.1970G>T	CCDS5987.2	.	.	.	.	.	.	.	.	.	.	C	25.3	4.624156	0.87560	.	.	ENSG00000154359	ENST00000398246;ENST00000525024;ENST00000533751;ENST00000524526	T;T;T;T	0.48836	0.8;0.8;0.8;0.8	5.04	5.04	0.67666	Peptidase S16, lon N-terminal (1);PUA-like domain (1);	0.000000	0.85682	D	0.000000	T	0.79251	0.4414	H	0.95437	3.67	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.85527	0.1207	10	0.87932	D	0	-18.9814	19.2731	0.94018	0.0:1.0:0.0:0.0	.	646;657	Q17RB8-2;Q17RB8	.;LONF1_HUMAN	V	657;83;300;260	ENSP00000381298:G657V;ENSP00000436770:G83V;ENSP00000432130:G300V;ENSP00000433327:G260V	ENSP00000381298:G657V	G	-	2	0	LONRF1	12630821	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.776000	0.85560	2.733000	0.93635	0.557000	0.71058	GGA		0.393	LONRF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251693.2	NM_152271		26	46	1	0	1.42536e-11	1	1.48601e-11	26	46					A	12586450	C	A	12586450	3	1	418	1	0	0	0	0	1	0	0	0	8894	855	30	5	363	5	LONRF1	8	12586450	Missense_Mutation	SNP	C	TCGA-VP-A87H-01A-11D-A34U-08		12586450	133777572	17	20261											
FAM82B	51115	broad.mit.edu	37	chr8	87487083	87487083	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctgtgtgtgctggatagtccTtggctttcattagccagaaa	8	14	11	8	0	1	1	1	0	0	1	2	2	2	2	2	2	2	2	2	2	3	4			TCGA-VP-A87H-01A-11D-A34U-08	TCGA-VP-A87H-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83d97b01-92e2-41d7-acca-2d96a560970b	d500dcf5-dcd0-4372-b69e-011974798a94	g.chr8:87487083T>C	ENST00000406452.3	-	9	1019	c.860A>G	c.(859-861)aAg>aGg	p.K287R	RMDN1_ENST00000430676.2_Missense_Mutation_p.K257R|RMDN1_ENST00000523911.1_Missense_Mutation_p.K230R|RMDN1_ENST00000519966.1_Missense_Mutation_p.K244R	NM_016033.2	NP_057117.2	Q96DB5	RMD1_HUMAN	regulator of microtubule dynamics 1	287						microtubule (GO:0005874)|mitochondrion (GO:0005739)											TGGATAGTCCTTGGCTTTCAT	0.383																																						ENST00000406452.3																			0											c.(859-861)aAg>aGg		regulator of microtubule dynamics 1							169	149	156					8																	87487083		2203	4300	6503	SO:0001583	missense	51115							g.chr8:87487083T>C	AK000672	CCDS34918.1, CCDS69509.1, CCDS69510.1	8q21.3	2013-01-11	2013-01-11	2013-01-11	ENSG00000176623	ENSG00000176623			24285	protein-coding gene	gene with protein product		611871	"family with sequence similarity 82, member B"	FAM82B		10810093	Standard	NM_016033		Approved	CGI-90, FLJ20665, RMD1	uc003ydu.3	Q96DB5	OTTHUMG00000163692	ENST00000406452.3:c.860A>G	8.37:g.87487083T>C	ENSP00000385927:p.Lys287Arg					RMDN1_ENST00000430676.2_Missense_Mutation_p.K257R|RMDN1_ENST00000519966.1_Missense_Mutation_p.K244R|RMDN1_ENST00000523911.1_Missense_Mutation_p.K230R	p.K287R	NM_016033.2	NP_057117.2					9	1019	-								A9UMZ8|B4DNF5|B4DZW6|B5MC61|C9JSC6|E7EVI2|Q9Y398	Missense_Mutation	SNP	ENST00000406452.3	37	c.860A>G	CCDS34918.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	10.96|10.96	1.499737|1.499737	0.26861|0.26861	.|.	.|.	ENSG00000176623|ENSG00000176623	ENST00000406452;ENST00000523911;ENST00000519966;ENST00000430676;ENST00000520719|ENST00000517710;ENST00000519247;ENST00000519639;ENST00000522942	T;T;T;T;T|.	0.46451|.	0.87;0.87;0.87;0.87;0.87|.	5.27|5.27	1.18|1.18	0.20946|0.20946	Tetratricopeptide-like helical (1);|.	0.047777|.	0.85682|.	N|.	0.000000|.	T|T	0.40171|0.40171	0.1106|0.1106	N|N	0.21545|0.21545	0.675|0.675	0.50171|0.50171	D|D	0.999859|0.999859	B;B;B|.	0.10296|.	0.003;0.0;0.002|.	B;B;B|.	0.15484|.	0.013;0.002;0.005|.	T|T	0.07065|0.07065	-1.0792|-1.0792	10|5	0.25106|.	T|.	0.35|.	-6.2672|-6.2672	9.3865|9.3865	0.38347|0.38347	0.0:0.2232:0.0:0.7768|0.0:0.2232:0.0:0.7768	.|.	257;244;287|.	B4DZW6;E7EVI2;Q96DB5|.	.;.;RMD1_HUMAN|.	R|G	287;230;244;257;138|74;21;133;93	ENSP00000385927:K287R;ENSP00000429899:K230R;ENSP00000428661:K244R;ENSP00000409661:K257R;ENSP00000428360:K138R|.	ENSP00000385927:K287R|.	K|R	-|-	2|1	0|2	FAM82B|FAM82B	87556199|87556199	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.973000|0.973000	0.67179|0.67179	0.900000|0.900000	0.28431|0.28431	0.024000|0.024000	0.15214|0.15214	-0.410000|-0.410000	0.06199|0.06199	AAG|AGG		0.383	RMDN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374770.2	NM_016033		49	96	0	0	0	1	0	49	96					C	87487083	T	C	87487083	3	2	418	1	0	0	0	0	1	0	0	0	5632	1609	56	4	92	4	FAM82B	8	87487083	Missense_Mutation	SNP	T	TCGA-VP-A87H-01A-11D-A34U-08	74900633	87487083	58876939	18	20262											
FAM83H	286077	broad.mit.edu	37	chr8	144809818	144809818	+	Frame_Shift_Del	DEL	C	C	-																															gtcttcgtaagcctccgcttCcatgggcgccggtaggccgt																										TCGA-VP-A87H-01A-11D-A34U-08	TCGA-VP-A87H-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83d97b01-92e2-41d7-acca-2d96a560970b	d500dcf5-dcd0-4372-b69e-011974798a94	g.chr8:144809818delC	ENST00000388913.3	-	5	1938	c.1813delG	c.(1813-1815)gaafs	p.E605fs		NM_198488.3	NP_940890	Q6ZRV2	FA83H_HUMAN	family with sequence similarity 83, member H	605				E -> V (in Ref. 2; BAC87207). {ECO:0000305}.	biomineral tissue development (GO:0031214)					central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(12)|pancreas(1)|prostate(3)|urinary_tract(1)	21	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			GCCTCCGCTTCCATGGGCGCC	0.746																																						ENST00000388913.3																			0				central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(12)|pancreas(1)|prostate(3)|urinary_tract(1)	21						c.(1813-1815)aafs		family with sequence similarity 83, member H							4	6	5					8																	144809818		1545	3531	5076	SO:0001589	frameshift_variant	286077				biomineral tissue development			g.chr8:144809818delC	AK127960	CCDS6410.2	8q24.3	2014-03-13			ENSG00000180921	ENSG00000180921			24797	protein-coding gene	gene with protein product		611927				18252228	Standard	NM_198488		Approved	FLJ46072	uc003yzk.3	Q6ZRV2	OTTHUMG00000133559	ENST00000388913.3:c.1813delG	8.37:g.144809818delC	ENSP00000373565:p.Glu605fs						p.E605fs	NM_198488.3	NP_940890.3	Q6ZRV2	FA83H_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)		5	1938	-	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		605	E -> V (in Ref. 2; BAC87207).				A0JLS2|Q8N4W0	Frame_Shift_Del	DEL	ENST00000388913.3	37	c.1813delG	CCDS6410.2																																																																																				0.746	FAM83H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257632.2	NM_198488		2	4						2	4	---	---	---	---	-	144809818	C	-	144809818	7	5	418	1	0	1	0	1	0	0	0	0	5640	864	30	0	1730	0	FAM83H	8	144809818	Frame_Shift_Del	DEL	C	TCGA-VP-A87H-01A-11D-A34U-08	57322735	144809818	1554204	19	20263											
CDK5RAP2	55755	broad.mit.edu	37	chr9	123165315	123165315	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtcgcaggagagggagtcCgtgtcattcccagagagtgg	8	8	16	9	2	1	2	1	0	0	2	4	5	3	3	2	3	0	1	2	3	0	1			TCGA-VP-A87H-01A-11D-A34U-08	TCGA-VP-A87H-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83d97b01-92e2-41d7-acca-2d96a560970b	d500dcf5-dcd0-4372-b69e-011974798a94	g.chr9:123165315C>T	ENST00000349780.4	-	34	5255	c.5076G>A	c.(5074-5076)acG>acA	p.T1692T	CDK5RAP2_ENST00000360190.4_Silent_p.T1613T|CDK5RAP2_ENST00000360822.3_Silent_p.T1660T|CDK5RAP2_ENST00000480467.1_5'UTR|CDK5RAP2_ENST00000359309.3_Silent_p.T1651T	NM_018249.4	NP_060719.4	Q96SN8	CK5P2_HUMAN	CDK5 regulatory subunit associated protein 2	1692					brain development (GO:0007420)|centrosome organization (GO:0051297)|chromosome segregation (GO:0007059)|establishment of mitotic spindle orientation (GO:0000132)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule bundle formation (GO:0001578)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|negative regulation of centriole replication (GO:0046600)|negative regulation of neuron differentiation (GO:0045665)|neurogenesis (GO:0022008)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of neuron differentiation (GO:0045664)|regulation of spindle checkpoint (GO:0090231)	cell junction (GO:0030054)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|pericentriolar material (GO:0000242)|perinuclear region of cytoplasm (GO:0048471)|spindle pole (GO:0000922)	calmodulin binding (GO:0005516)|microtubule binding (GO:0008017)|protein kinase binding (GO:0019901)|transcription regulatory region DNA binding (GO:0044212)|tubulin binding (GO:0015631)			breast(6)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	58						AGAGGGAGTCCGTGTCATTCC	0.537																																						ENST00000349780.4																			0				breast(6)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	58						c.(5074-5076)acG>acA		CDK5 regulatory subunit associated protein 2							76	77	77					9																	123165315		2203	4300	6503	SO:0001819	synonymous_variant	55755				brain development|centrosome organization|chromosome segregation|G2/M transition of mitotic cell cycle|microtubule bundle formation|negative regulation of centriole replication|positive regulation of transcription, DNA-dependent|regulation of neuron differentiation|regulation of spindle checkpoint	cytosol|Golgi apparatus|microtubule|pericentriolar material|perinuclear region of cytoplasm|spindle pole	calmodulin binding|microtubule binding|neuronal Cdc2-like kinase binding|transcription regulatory region DNA binding	g.chr9:123165315C>T	BK005504	CCDS6823.1, CCDS43871.1, CCDS75888.1	9q33.3	2014-02-21			ENSG00000136861	ENSG00000136861			18672	protein-coding gene	gene with protein product	"centrosomin"	608201	"microcephaly, primary autosomal recessive 3"	MCPH3		10721722, 17764569, 24466316	Standard	NM_018249		Approved	C48, FLJ10867, CEP215	uc004bkf.4	Q96SN8	OTTHUMG00000021043	ENST00000349780.4:c.5076G>A	9.37:g.123165315C>T						CDK5RAP2_ENST00000480467.1_5'UTR|CDK5RAP2_ENST00000360190.4_Silent_p.T1613T|CDK5RAP2_ENST00000359309.3_Silent_p.T1651T|CDK5RAP2_ENST00000360822.3_Silent_p.T1660T	p.T1692T	NM_018249.4	NP_060719.4	Q96SN8	CK5P2_HUMAN			34	5255	-			1692					Q5JV18|Q7Z3L4|Q7Z3U1|Q7Z7I6|Q9BSW0|Q9H6J6|Q9HCD9|Q9NV90|Q9UIW9	Silent	SNP	ENST00000349780.4	37	c.5076G>A	CCDS6823.1																																																																																				0.537	CDK5RAP2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055535.1	NM_018249		3	69	0	0	0	1	0	3	69					T	123165315	C	T	123165315	2	4	418	1	0	0	0	0	0	0	0	1	3146	639	23	2		2	CDK5RAP2	9	123165315	Silent	SNP	C	TCGA-VP-A87H-01A-11D-A34U-08		123165315	18048116	20	20264											
CALHM1	255022	broad.mit.edu	37	chr10	105218101	105218101	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aggctgccgttgcccagtgcGctcacgggcacggcagtgca	6	6	15	14	4	1	0	1	0	0	0	1	0	1	0	2	3	4	6	2	3	0	1	rs554951738		TCGA-VP-A87H-01A-11D-A34U-08	TCGA-VP-A87H-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83d97b01-92e2-41d7-acca-2d96a560970b	d500dcf5-dcd0-4372-b69e-011974798a94	g.chr10:105218101G>A	ENST00000329905.5	-	1	544	c.408C>T	c.(406-408)agC>agT	p.S136S	RP11-225H22.4_ENST00000411906.1_RNA	NM_001001412.3	NP_001001412.3	Q8IU99	CAHM1_HUMAN	calcium homeostasis modulator 1	136					ATP transport (GO:0015867)|cation transport (GO:0006812)|protein homooligomerization (GO:0051260)|regulation of ion transmembrane transport (GO:0034765)|sensory perception of bitter taste (GO:0050913)|sensory perception of sweet taste (GO:0050916)|sensory perception of umami taste (GO:0050917)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)	calcium activated cation channel activity (GO:0005227)|calcium channel activity (GO:0005262)|identical protein binding (GO:0042802)|voltage-gated ion channel activity (GO:0005244)			large_intestine(2)|liver(1)|lung(5)|ovary(1)	9						TGCCCAGTGCGCTCACGGGCA	0.706																																						ENST00000329905.5																			0				large_intestine(2)|liver(1)|lung(5)|ovary(1)	9						c.(406-408)agC>agT		calcium homeostasis modulator 1							23	24	24					10																	105218101		2200	4296	6496	SO:0001819	synonymous_variant	255022					endoplasmic reticulum membrane|integral to membrane|plasma membrane	calcium channel activity|identical protein binding	g.chr10:105218101G>A	BC036208	CCDS7550.1	10q24.33	2008-07-02	2008-07-02	2008-07-02	ENSG00000185933	ENSG00000185933			23494	protein-coding gene	gene with protein product		612234	"family with sequence similarity 26, member C"	FAM26C		18585350	Standard	NM_001001412		Approved		uc001kxe.2	Q8IU99	OTTHUMG00000018991	ENST00000329905.5:c.408C>T	10.37:g.105218101G>A						RP11-225H22.4_ENST00000411906.1_RNA	p.S136S	NM_001001412.3	NP_001001412.3	Q8IU99	CAHM1_HUMAN			1	544	-			136					Q5W091	Silent	SNP	ENST00000329905.5	37	c.408C>T	CCDS7550.1																																																																																				0.706	CALHM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050165.1	NM_001001412		8	25	0	0	0	1	0	8	25					A	105218101	G	A	105218101	2	1	418	1	0	0	0	0	0	0	0	1	2582	1078	38	1		1	CALHM1	10	105218101	Silent	SNP	G	TCGA-VP-A87H-01A-11D-A34U-08		105218101	30316646	21	20265											
SORCS3	22986	broad.mit.edu	37	chr10	106802875	106802875	+	Missense_Mutation	SNP	C	C	A																															catgaacgcatcacacccaaCaggttttattggtaagccct																										TCGA-VP-A87H-01A-11D-A34U-08	TCGA-VP-A87H-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83d97b01-92e2-41d7-acca-2d96a560970b	d500dcf5-dcd0-4372-b69e-011974798a94	g.chr10:106802875C>A	ENST00000369701.3	+	5	1244	c.1017C>A	c.(1015-1017)aaC>aaA	p.N339K		NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	339					learning (GO:0007612)|memory (GO:0007613)|neuropeptide signaling pathway (GO:0007218)|regulation of long term synaptic depression (GO:1900452)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|neuronal postsynaptic density (GO:0097481)	neuropeptide receptor activity (GO:0008188)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		TCACACCCAACAGGTTTTATT	0.433																																					NSCLC(116;1497 1690 7108 13108 14106)	ENST00000369701.3																			0				autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131						c.(1015-1017)aaC>aaA		sortilin-related VPS10 domain containing receptor 3							242	223	230					10																	106802875		2203	4300	6503	SO:0001583	missense	22986					integral to membrane	neuropeptide receptor activity	g.chr10:106802875C>A	AB028982	CCDS7558.1	10q23-q25	2006-04-12			ENSG00000156395	ENSG00000156395			16699	protein-coding gene	gene with protein product		606285				11499680	Standard	NM_014978		Approved	KIAA1059, SORCS	uc001kyi.1	Q9UPU3	OTTHUMG00000019011	ENST00000369701.3:c.1017C>A	10.37:g.106802875C>A	ENSP00000358715:p.Asn339Lys						p.N339K	NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)	5	1244	+		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)	339					Q5VXF9|Q9NQJ2	Missense_Mutation	SNP	ENST00000369701.3	37	c.1017C>A	CCDS7558.1	.	.	.	.	.	.	.	.	.	.	C	19.01	3.743669	0.69418	.	.	ENSG00000156395	ENST00000369701	T	0.23348	1.91	5.55	5.55	0.83447	VPS10 (1);	0.390022	0.31312	N	0.007869	T	0.33498	0.0865	L	0.60455	1.87	0.40833	D	0.983607	P	0.45672	0.864	P	0.46543	0.52	T	0.02505	-1.1149	10	0.22706	T	0.39	.	16.7787	0.85558	0.0:1.0:0.0:0.0	.	339	Q9UPU3	SORC3_HUMAN	K	339	ENSP00000358715:N339K	ENSP00000358715:N339K	N	+	3	2	SORCS3	106792865	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.913000	0.56394	2.766000	0.95052	0.643000	0.83706	AAC		0.433	SORCS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050221.1	NM_014978		5	71	1	0	4.14922e-12	1	4.41982e-12	5	71					A	106802875	C	A	106802875	3	1	418	1	0	0	0	0	1	0	0	0	14932	477	17	5	1035	5	SORCS3	10	106802875	Missense_Mutation	SNP	C	TCGA-VP-A87H-01A-11D-A34U-08	1584774	106802875	28731872	22	20266	104	3									
SORCS3	22986	broad.mit.edu	37	chr10	106802876	106802876	+	Missense_Mutation	SNP	A	A	G																															atgaacgcatcacacccaacAggttttattggtaagcccta																										TCGA-VP-A87H-01A-11D-A34U-08	TCGA-VP-A87H-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83d97b01-92e2-41d7-acca-2d96a560970b	d500dcf5-dcd0-4372-b69e-011974798a94	g.chr10:106802876A>G	ENST00000369701.3	+	5	1245	c.1018A>G	c.(1018-1020)Agg>Ggg	p.R340G		NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	340					learning (GO:0007612)|memory (GO:0007613)|neuropeptide signaling pathway (GO:0007218)|regulation of long term synaptic depression (GO:1900452)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|neuronal postsynaptic density (GO:0097481)	neuropeptide receptor activity (GO:0008188)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		CACACCCAACAGGTTTTATTG	0.433																																					NSCLC(116;1497 1690 7108 13108 14106)	ENST00000369701.3																			0				autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131						c.(1018-1020)Agg>Ggg		sortilin-related VPS10 domain containing receptor 3							240	221	228					10																	106802876		2203	4300	6503	SO:0001583	missense	22986					integral to membrane	neuropeptide receptor activity	g.chr10:106802876A>G	AB028982	CCDS7558.1	10q23-q25	2006-04-12			ENSG00000156395	ENSG00000156395			16699	protein-coding gene	gene with protein product		606285				11499680	Standard	NM_014978		Approved	KIAA1059, SORCS	uc001kyi.1	Q9UPU3	OTTHUMG00000019011	ENST00000369701.3:c.1018A>G	10.37:g.106802876A>G	ENSP00000358715:p.Arg340Gly						p.R340G	NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)	5	1245	+		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)	340					Q5VXF9|Q9NQJ2	Missense_Mutation	SNP	ENST00000369701.3	37	c.1018A>G	CCDS7558.1	.	.	.	.	.	.	.	.	.	.	A	18.23	3.577547	0.65878	.	.	ENSG00000156395	ENST00000369701	T	0.52983	0.64	5.55	3.06	0.35304	VPS10 (1);	0.000000	0.85682	D	0.000000	T	0.65302	0.2678	M	0.76574	2.34	0.38023	D	0.934916	D	0.89917	1.0	D	0.76071	0.987	T	0.71573	-0.4552	10	0.66056	D	0.02	.	11.2988	0.49294	0.5837:0.4163:0.0:0.0	.	340	Q9UPU3	SORC3_HUMAN	G	340	ENSP00000358715:R340G	ENSP00000358715:R340G	R	+	1	2	SORCS3	106792866	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	2.826000	0.48104	1.034000	0.39945	0.523000	0.50628	AGG		0.433	SORCS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050221.1	NM_014978		6	68	0	0	0	1	0	6	68					G	106802876	A	G	106802876	3	3	418	1	0	0	0	0	1	0	0	0	14932	179	7	4	1036	4	SORCS3	10	106802876	Missense_Mutation	SNP	A	TCGA-VP-A87H-01A-11D-A34U-08	1	106802876	28731871	23	20267	104	3									
SORCS3	22986	broad.mit.edu	37	chr10	106802882	106802882	+	Missense_Mutation	SNP	T	T	A																															gcatcacacccaacaggtttTattggtaagccctatccaca																										TCGA-VP-A87H-01A-11D-A34U-08	TCGA-VP-A87H-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83d97b01-92e2-41d7-acca-2d96a560970b	d500dcf5-dcd0-4372-b69e-011974798a94	g.chr10:106802882T>A	ENST00000369701.3	+	5	1251	c.1024T>A	c.(1024-1026)Tat>Aat	p.Y342N		NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	342					learning (GO:0007612)|memory (GO:0007613)|neuropeptide signaling pathway (GO:0007218)|regulation of long term synaptic depression (GO:1900452)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|neuronal postsynaptic density (GO:0097481)	neuropeptide receptor activity (GO:0008188)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		CAACAGGTTTTATTGGTAAGC	0.438																																					NSCLC(116;1497 1690 7108 13108 14106)	ENST00000369701.3																			0				autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131						c.(1024-1026)Tat>Aat		sortilin-related VPS10 domain containing receptor 3							232	215	220					10																	106802882		2203	4300	6503	SO:0001583	missense	22986					integral to membrane	neuropeptide receptor activity	g.chr10:106802882T>A	AB028982	CCDS7558.1	10q23-q25	2006-04-12			ENSG00000156395	ENSG00000156395			16699	protein-coding gene	gene with protein product		606285				11499680	Standard	NM_014978		Approved	KIAA1059, SORCS	uc001kyi.1	Q9UPU3	OTTHUMG00000019011	ENST00000369701.3:c.1024T>A	10.37:g.106802882T>A	ENSP00000358715:p.Tyr342Asn						p.Y342N	NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)	5	1251	+		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)	342					Q5VXF9|Q9NQJ2	Missense_Mutation	SNP	ENST00000369701.3	37	c.1024T>A	CCDS7558.1	.	.	.	.	.	.	.	.	.	.	T	20.6	4.022909	0.75275	.	.	ENSG00000156395	ENST00000369701	T	0.49720	0.77	5.55	5.55	0.83447	VPS10 (1);	0.065127	0.64402	D	0.000005	T	0.67344	0.2883	M	0.73962	2.25	0.47308	D	0.999383	D	0.89917	1.0	D	0.79784	0.993	T	0.69165	-0.5217	10	0.49607	T	0.09	.	13.5072	0.61491	0.0:0.0:0.0:1.0	.	342	Q9UPU3	SORC3_HUMAN	N	342	ENSP00000358715:Y342N	ENSP00000358715:Y342N	Y	+	1	0	SORCS3	106792872	1.000000	0.71417	1.000000	0.80357	0.852000	0.48524	5.663000	0.68038	2.233000	0.73108	0.523000	0.50628	TAT		0.438	SORCS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050221.1	NM_014978		7	69	0	0	0	1	0	7	69					A	106802882	T	A	106802882	3	1	418	1	0	0	0	0	1	0	0	0	14932	1754	61	5	1042	5	SORCS3	10	106802882	Missense_Mutation	SNP	T	TCGA-VP-A87H-01A-11D-A34U-08	6	106802882	28731865	24	20268	104	3									
MUC6	4588	broad.mit.edu	37	chr11	1023628	1023628	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catggccgtcctgcgtgtgcGtgttgtagaagccgcagtag	6	10	15	10	4	0	1	0	0	0	1	1	1	1	1	3	1	3	4	3	1	3	3	rs373492122		TCGA-VP-A87H-01A-11D-A34U-08	TCGA-VP-A87H-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83d97b01-92e2-41d7-acca-2d96a560970b	d500dcf5-dcd0-4372-b69e-011974798a94	g.chr11:1023628G>A	ENST00000421673.2	-	26	3457	c.3407C>T	c.(3406-3408)aCg>aTg	p.T1136M		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	1136					cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)	extracellular matrix structural constituent (GO:0005201)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CTGCGTGTGCGTGTTGTAGAA	0.662																																						ENST00000421673.2																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						c.(3406-3408)aCg>aTg		mucin 6, oligomeric mucus/gel-forming		G	MET/THR	1,4321		0,1,2160	75	89	84		3407	0.8	0.5	11		84	0,8520		0,0,4260	no	missense	MUC6	NM_005961.2	81	0,1,6420	AA,AG,GG		0.0,0.0231,0.0078	probably-damaging	1136/2440	1023628	1,12841	2161	4260	6421	SO:0001583	missense	4588				maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent	g.chr11:1023628G>A	U97698, AY312160	CCDS44513.1	11p15.5	2008-02-05	2006-03-14		ENSG00000184956	ENSG00000184956		"Mucins"	7517	protein-coding gene	gene with protein product		158374	"mucin 6, gastric"			7680650	Standard	NM_005961		Approved		uc001lsw.2	Q6W4X9	OTTHUMG00000165140	ENST00000421673.2:c.3407C>T	11.37:g.1023628G>A	ENSP00000406861:p.Thr1136Met						p.T1136M	NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	26	3457	-		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	1136					O15329|Q14394|Q2TUQ5|Q4L207|Q8N8I1|Q8NAK1	Missense_Mutation	SNP	ENST00000421673.2	37	c.3407C>T	CCDS44513.1	.	.	.	.	.	.	.	.	.	.	G	9.784	1.176198	0.21704	2.31E-4	0.0	ENSG00000184956	ENST00000421673	T	0.19806	2.12	4.1	0.844	0.18943	.	2.065940	0.04013	U	0.298489	T	0.40171	0.1106	L	0.48642	1.525	0.20307	N	0.999916	D	0.89917	1.0	D	0.63283	0.913	T	0.48514	-0.9029	10	0.44086	T	0.13	.	13.9269	0.63968	0.0:0.4403:0.5597:0.0	.	1136	Q6W4X9	MUC6_HUMAN	M	1136	ENSP00000406861:T1136M	ENSP00000406861:T1136M	T	-	2	0	MUC6	1013628	0.826000	0.29277	0.524000	0.27887	0.214000	0.24535	0.645000	0.24782	-0.029000	0.13827	0.542000	0.68232	ACG		0.662	MUC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382120.2	XM_290540		4	25	0	0	0	1	0	4	25					A	1023628	G	A	1023628	3	1	418	1	0	0	0	0	1	0	0	0	9980	1145	40	1	3944	1	MUC6	11	1023628	Missense_Mutation	SNP	G	TCGA-VP-A87H-01A-11D-A34U-08		1023628	133982888	25	20269											
NPAT	4863	broad.mit.edu	37	chr11	108056136	108056136	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	catatatagcttacctagttAaaaatttatttatgttttct	13	20	3	5	0	1	0	0	0	1	0	1	0	1	0	1	0	2	3	1	0	10	12			TCGA-VP-A87H-01A-11D-A34U-08	TCGA-VP-A87H-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83d97b01-92e2-41d7-acca-2d96a560970b	d500dcf5-dcd0-4372-b69e-011974798a94	g.chr11:108056136A>G	ENST00000278612.8	-	9	917	c.812T>C	c.(811-813)tTa>tCa	p.L271S	NPAT_ENST00000610253.1_5'UTR	NM_002519.2	NP_002510.2	Q14207	NPAT_HUMAN	nuclear protein, ataxia-telangiectasia locus	271	Interaction with MIZF.|Mediates transcriptional activation.				positive regulation of transcription, DNA-templated (GO:0045893)|regulation of gene expression (GO:0010468)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|transcription, DNA-templated (GO:0006351)	Cajal body (GO:0015030)|cytoplasm (GO:0005737)|Gemini of coiled bodies (GO:0097504)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(21)|ovary(2)|prostate(2)|skin(5)	46		all_cancers(61;2.31e-10)|all_epithelial(67;1.11e-06)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		BRCA - Breast invasive adenocarcinoma(274;1.05e-05)|Epithelial(105;3.01e-05)|all cancers(92;0.000816)|Colorectal(284;0.116)		TTACCTAGTTAAAAATTTATT	0.264																																						ENST00000278612.8																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(21)|ovary(2)|prostate(2)|skin(5)	46						c.(811-813)tTa>tCa		nuclear protein, ataxia-telangiectasia locus							57	50	52					11																	108056136		1785	4060	5845	SO:0001583	missense	4863				positive regulation of transcription, DNA-dependent|regulation of transcription involved in G1/S phase of mitotic cell cycle	Cajal body	protein C-terminus binding|protein N-terminus binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity	g.chr11:108056136A>G	X97186	CCDS41710.1	11q22-q23	2008-02-01			ENSG00000149308	ENSG00000149308			7896	protein-coding gene	gene with protein product		601448				9205109	Standard	NM_002519		Approved	E14	uc001pjz.4	Q14207	OTTHUMG00000166385	ENST00000278612.8:c.812T>C	11.37:g.108056136A>G	ENSP00000278612:p.Leu271Ser						p.L271S	NM_002519.2	NP_002510.2	Q14207	NPAT_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.05e-05)|Epithelial(105;3.01e-05)|all cancers(92;0.000816)|Colorectal(284;0.116)	9	917	-		all_cancers(61;2.31e-10)|all_epithelial(67;1.11e-06)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)	271			Interaction with MIZF.|Mediates transcriptional activation.		A8K1V5|A8K6M2|Q13632|Q14967|Q16580|Q86W55|Q8IWE9	Missense_Mutation	SNP	ENST00000278612.8	37	c.812T>C	CCDS41710.1	.	.	.	.	.	.	.	.	.	.	A	15.49	2.849195	0.51270	.	.	ENSG00000149308	ENST00000278612	T	0.11821	2.74	5.01	3.87	0.44632	.	0.183072	0.34725	N	0.003736	T	0.32010	0.0815	M	0.64997	1.995	0.48571	D	0.999672	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.01829	-1.1265	10	0.87932	D	0	-4.5358	10.4828	0.44704	0.923:0.0:0.077:0.0	.	271;271	B9EG70;Q14207	.;NPAT_HUMAN	S	271	ENSP00000278612:L271S	ENSP00000278612:L271S	L	-	2	0	NPAT	107561346	1.000000	0.71417	1.000000	0.80357	0.406000	0.30931	8.512000	0.90538	0.744000	0.32741	0.455000	0.32223	TTA		0.264	NPAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389506.2	NM_002519		6	16	0	0	0	1	0	6	16					G	108056136	A	G	108056136	3	3	418	1	0	0	0	0	1	0	0	0	10566	372	13	4	3511	4	NPAT	11	108056136	Missense_Mutation	SNP	A	TCGA-VP-A87H-01A-11D-A34U-08	107032508	108056136	26950380	26	20270											
TAS2R19	259294	broad.mit.edu	37	chr12	11175140	11175140	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aaatgcaaacactaccagaaTtgatgaaatgatgagcagaa	20	7	8	6	0	0	6	0	4	0	2	0	6	0	6	1	0	4	2	1	0	6	2			TCGA-VP-A87H-01A-11D-A34U-08	TCGA-VP-A87H-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83d97b01-92e2-41d7-acca-2d96a560970b	d500dcf5-dcd0-4372-b69e-011974798a94	g.chr12:11175140T>C	ENST00000390673.2	-	1	79	c.31A>G	c.(31-33)Att>Gtt	p.I11V	TAS2R14_ENST00000381852.4_Intron|PRR4_ENST00000536668.1_Intron	NM_176888.1	NP_795369.1	P59542	T2R19_HUMAN	taste receptor, type 2, member 19	11					sensory perception of taste (GO:0050909)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(1)|cervix(1)|large_intestine(2)|lung(10)|prostate(1)|skin(1)|stomach(1)	17						ACTACCAGAATTGATGAAATG	0.378																																						ENST00000390673.2																			0				breast(1)|cervix(1)|large_intestine(2)|lung(10)|prostate(1)|skin(1)|stomach(1)	17						c.(31-33)Att>Gtt		taste receptor, type 2, member 19							69	63	65					12																	11175140		2202	4300	6502	SO:0001583	missense	259294				sensory perception of taste	integral to membrane	G-protein coupled receptor activity	g.chr12:11175140T>C	AX097730, AF494234	CCDS8640.1	12p13.2	2012-08-22			ENSG00000212124	ENSG00000212124		"Taste receptors / Type 2", "GPCR / Unclassified : Taste receptors"	19108	protein-coding gene	gene with protein product		613961	"taste receptor, type 2, member 48", "taste receptor, type 2, member 23"	TAS2R48, TAS2R23			Standard	NM_176888		Approved	T2R19, T2R23	uc010shj.2	P59542	OTTHUMG00000162687	ENST00000390673.2:c.31A>G	12.37:g.11175140T>C	ENSP00000375091:p.Ile11Val					TAS2R14_ENST00000381852.4_Intron|PRR4_ENST00000536668.1_Intron	p.I11V	NM_176888.1	NP_795369.1	P59542	T2R19_HUMAN			1	79	-			11					Q3MIJ4|Q645X8	Missense_Mutation	SNP	ENST00000390673.2	37	c.31A>G	CCDS8640.1	.	.	.	.	.	.	.	.	.	.	.	6.204	0.405883	0.11754	.	.	ENSG00000212124	ENST00000390673	T	0.00832	5.64	2.45	-1.87	0.07737	.	0.096845	0.39475	U	0.001341	T	0.00906	0.0030	L	0.39020	1.185	0.09310	N	1	B	0.29531	0.247	B	0.37888	0.26	T	0.47114	-0.9142	10	0.35671	T	0.21	.	2.86	0.05584	0.1973:0.2746:0.0:0.5281	.	11	P59542	T2R19_HUMAN	V	11	ENSP00000375091:I11V	ENSP00000375091:I11V	I	-	1	0	TAS2R19	11066407	0.000000	0.05858	0.000000	0.03702	0.021000	0.10359	-0.708000	0.05035	-0.215000	0.10063	0.163000	0.16589	ATT		0.378	TAS2R19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370080.1	NM_176888		4	26	0	0	0	1	0	4	26					C	11175140	T	C	11175140	3	2	418	1	0	0	0	0	1	0	0	0	15567	1493	52	4	871	4	TAS2R19	12	11175140	Missense_Mutation	SNP	T	TCGA-VP-A87H-01A-11D-A34U-08		11175140	122676755	27	20271											
HNF1A	6927	broad.mit.edu	37	chr12	121416600	121416600	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taaactgagccagctgcagaCggagctcctggcggccctgc	8	6	13	14	2	0	2	0	1	0	1	1	3	1	3	3	3	6	3	3	3	2	1			TCGA-VP-A87H-01A-11D-A34U-08	TCGA-VP-A87H-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83d97b01-92e2-41d7-acca-2d96a560970b	d500dcf5-dcd0-4372-b69e-011974798a94	g.chr12:121416600C>T	ENST00000257555.6	+	1	255	c.29C>T	c.(28-30)aCg>aTg	p.T10M	HNF1A-AS1_ENST00000535301.1_RNA|HNF1A_ENST00000541395.1_Missense_Mutation_p.T10M|HNF1A_ENST00000543427.1_Intron|HNF1A_ENST00000538626.1_Missense_Mutation_p.T10M|HNF1A-AS1_ENST00000433033.2_RNA|HNF1A_ENST00000544413.1_Missense_Mutation_p.T10M|HNF1A-AS1_ENST00000537361.1_RNA|HNF1A_ENST00000402929.1_Missense_Mutation_p.T10M|HNF1A_ENST00000400024.2_Missense_Mutation_p.T10M			P20823	HNF1A_HUMAN	HNF1 homeobox A	10	Dimerization.				glucose homeostasis (GO:0042593)|glucose import (GO:0046323)|insulin secretion (GO:0030073)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|renal glucose absorption (GO:0035623)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|protein dimerization activity (GO:0046983)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)	p.Q9fs*11(1)|p.Q7_L12del(1)|p.?(1)		breast(3)|central_nervous_system(2)|cervix(1)|endometrium(8)|large_intestine(19)|liver(175)|lung(9)|ovary(2)|prostate(1)|urinary_tract(1)	221	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					CAGCTGCAGACGGAGCTCCTG	0.692									Hepatic Adenoma, Familial Clustering of																													ENST00000257555.6																			3	Unknown(1)|Deletion - In frame(1)|Deletion - Frameshift(1)	p.Q9fs*11(1)|p.Q7_L12del(1)|p.?(1)	liver(2)|endometrium(1)	breast(3)|central_nervous_system(2)|cervix(1)|endometrium(8)|large_intestine(19)|liver(175)|lung(9)|ovary(2)|prostate(1)|urinary_tract(1)	221	GRCh37	CM064303	HNF1A	M		c.(28-30)aCg>aTg		HNF1 homeobox A							26	31	29					12																	121416600		2191	4280	6471	SO:0001583	missense	6927	Hepatic Adenoma, Familial Clustering of	Familial Cancer Database	incl. Maturity-Onset Diabetes of the Young type 3, MODY3	glucose homeostasis|glucose import|insulin secretion|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|renal glucose absorption	cytoplasm|nucleus|protein complex	DNA binding|protein dimerization activity|protein heterodimerization activity|protein homodimerization activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	g.chr12:121416600C>T	M57732	CCDS9209.1	12q24.31	2014-09-17	2007-08-24	2007-08-24	ENSG00000135100	ENSG00000135100		"Homeoboxes / HNF class"	11621	protein-coding gene	gene with protein product		142410	"transcription factor 1, hepatic; LF-B1, hepatic nuclear factor (HNF1), albumin proximal factor"	MODY3, TCF1		1535333, 7795649	Standard	NM_000545		Approved	HNF1, LFB1	uc001tzg.3	P20823	OTTHUMG00000151015	ENST00000257555.6:c.29C>T	12.37:g.121416600C>T	ENSP00000257555:p.Thr10Met					HNF1A-AS1_ENST00000433033.2_RNA|HNF1A_ENST00000544413.1_Missense_Mutation_p.T10M|HNF1A-AS1_ENST00000537361.1_RNA|HNF1A_ENST00000543427.1_Intron|HNF1A_ENST00000538626.1_Missense_Mutation_p.T10M|HNF1A_ENST00000402929.1_Missense_Mutation_p.T10M|HNF1A_ENST00000400024.2_Missense_Mutation_p.T10M|HNF1A_ENST00000541395.1_Missense_Mutation_p.T10M|HNF1A-AS1_ENST00000535301.1_RNA	p.T10M			P20823	HNF1A_HUMAN			1	255	+	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)		10			Dimerization.		A5Z2R8|E0YMJ5|E0YMK0|E0YMK1|E2I9R4|E2I9R5|F5H5U3|Q2M3H2|Q99861	Missense_Mutation	SNP	ENST00000257555.6	37	c.29C>T	CCDS9209.1	.	.	.	.	.	.	.	.	.	.	C	8.494	0.862682	0.17178	.	.	ENSG00000135100	ENST00000257555;ENST00000535125;ENST00000543536;ENST00000544680;ENST00000537424;ENST00000543027;ENST00000545458;ENST00000541395;ENST00000340577;ENST00000344370;ENST00000544413	D;D;D	0.98493	-4.96;-4.96;-4.96	4.28	3.39	0.38822	Hepatocyte nuclear factor 1, dimerisation domain (1);Hepatocyte nuclear factor 1, N-terminal (1);	0.466412	0.20236	N	0.096388	D	0.93743	0.8000	N	0.22421	0.69	0.80722	D	1	D;D;B;P	0.54207	0.957;0.965;0.006;0.938	B;B;B;B	0.40864	0.312;0.342;0.007;0.342	D	0.90638	0.4572	10	0.56958	D	0.05	-8.7532	4.354	0.11169	0.0:0.5918:0.1901:0.2181	.	10;10;10;10	F5H0K0;P20823;E7EUQ4;E7EMR0	.;HNF1A_HUMAN;.;.	M	10	ENSP00000257555:T10M;ENSP00000443112:T10M;ENSP00000438804:T10M	ENSP00000257555:T10M	T	+	2	0	HNF1A	119900983	1.000000	0.71417	1.000000	0.80357	0.871000	0.50021	2.383000	0.44354	0.787000	0.33731	0.467000	0.42956	ACG		0.692	HNF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320957.5	NM_000545		12	62	0	0	0	1	0	12	62					T	121416600	C	T	121416600	3	4	418	1	0	0	0	0	1	0	0	0	7251	536	19	1	31	1	HNF1A	12	121416600	Missense_Mutation	SNP	C	TCGA-VP-A87H-01A-11D-A34U-08	110241460	121416600	12435295	28	20272											
EP400	57634	broad.mit.edu	37	chr12	132445686	132445686	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gggggcttcgtggatgccagCgtgctggtgaggcagatcag	6	8	19	8	2	1	2	1	1	0	1	2	3	1	3	1	5	3	3	1	5	0	1			TCGA-VP-A87H-01A-11D-A34U-08	TCGA-VP-A87H-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83d97b01-92e2-41d7-acca-2d96a560970b	d500dcf5-dcd0-4372-b69e-011974798a94	g.chr12:132445686C>T	ENST00000333577.4	+	2	631	c.522C>T	c.(520-522)agC>agT	p.S174S	EP400_ENST00000389562.2_Silent_p.S174S|EP400_ENST00000332482.4_Silent_p.S174S|EP400_ENST00000330386.6_Silent_p.S174S|EP400_ENST00000389561.2_Silent_p.S174S			Q96L91	EP400_HUMAN	E1A binding protein p400	174					chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		TGGATGCCAGCGTGCTGGTGA	0.667																																						ENST00000333577.4																			0				NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161						c.(520-522)agC>agT		E1A binding protein p400							48	37	41					12																	132445686		2202	4297	6499	SO:0001819	synonymous_variant	57634				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	g.chr12:132445686C>T	U80743	CCDS31929.1, CCDS31929.2	12q24.33	2008-02-01	2002-02-05	2002-02-08		ENSG00000183495			11958	protein-coding gene	gene with protein product		606265	"trinucleotide repeat containing 12"	TNRC12		9225980, 11509179	Standard	NM_015409		Approved	CAGH32, KIAA1498, P400, KIAA1818, DKFZP434I225	uc001ujn.3	Q96L91		ENST00000333577.4:c.522C>T	12.37:g.132445686C>T						EP400_ENST00000389561.2_Silent_p.S174S|EP400_ENST00000330386.6_Silent_p.S174S|EP400_ENST00000389562.2_Silent_p.S174S|EP400_ENST00000332482.4_Silent_p.S174S	p.S174S			Q96L91	EP400_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)	2	631	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)	174					O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	Silent	SNP	ENST00000333577.4	37	c.522C>T																																																																																					0.667	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015409		5	18	0	0	0	1	0	5	18					T	132445686	C	T	132445686	2	4	418	1	0	0	0	0	0	0	0	1	5149	767	27	1		1	EP400	12	132445686	Silent	SNP	C	TCGA-VP-A87H-01A-11D-A34U-08	11029086	132445686	1406209	29	20273											
RYR3	6263	broad.mit.edu	37	chr15	34102840	34102840	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gatctccctcgcaaaatcgcGatacagccatgtaagctgcc	11	8	8	14	3	1	0	0	0	1	0	4	2	1	0	3	0	4	3	3	0	4	2			TCGA-VP-A87H-01A-11D-A34U-08	TCGA-VP-A87H-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83d97b01-92e2-41d7-acca-2d96a560970b	d500dcf5-dcd0-4372-b69e-011974798a94	g.chr15:34102840G>A	ENST00000389232.4	+	71	10257	c.10187G>A	c.(10186-10188)cGa>cAa	p.R3396Q	RYR3_ENST00000415757.3_Missense_Mutation_p.R3391Q	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	3396					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		GCAAAATCGCGATACAGCCAT	0.547																																						ENST00000389232.4																			0				NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311						c.(10186-10188)cGa>cAa		ryanodine receptor 3							55	63	61					15																	34102840		2055	4199	6254	SO:0001583	missense	6263				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr15:34102840G>A		CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"Ion channels / Ryanodine receptors", "EF-hand domain containing"	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.10187G>A	15.37:g.34102840G>A	ENSP00000373884:p.Arg3396Gln					RYR3_ENST00000415757.3_Missense_Mutation_p.R3391Q	p.R3396Q	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)	71	10257	+		all_lung(180;7.18e-09)	3396					O15175|Q15412	Missense_Mutation	SNP	ENST00000389232.4	37	c.10187G>A	CCDS45210.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.145979	0.77888	.	.	ENSG00000198838	ENST00000389232;ENST00000415757;ENST00000361728	D	0.97256	-4.31	5.15	5.15	0.70609	.	0.000000	0.85682	D	0.000000	D	0.98438	0.9480	M	0.83953	2.67	0.58432	D	0.999999	D;D	0.89917	0.999;1.0	D;D	0.69142	0.962;0.926	D	0.99383	1.0923	10	0.87932	D	0	.	18.813	0.92065	0.0:0.0:1.0:0.0	.	3391;3396	Q15413-2;Q15413	.;RYR3_HUMAN	Q	3396;3396;3391	ENSP00000373884:R3396Q	ENSP00000354735:R3391Q	R	+	2	0	RYR3	31890132	1.000000	0.71417	0.826000	0.32828	0.004000	0.04260	7.800000	0.85949	2.667000	0.90743	0.561000	0.74099	CGA		0.547	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1			14	22	0	0	0	1	0	14	22					A	34102840	G	A	34102840	3	1	418	1	0	0	0	0	1	0	0	0	13770	1058	37	2	10469	2	RYR3	15	34102840	Missense_Mutation	SNP	G	TCGA-VP-A87H-01A-11D-A34U-08		34102840	68428552	30	20274											
MYO9A	4649	broad.mit.edu	37	chr15	72300187	72300187	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctctaataattctgagacaaTaggcagaacttcaggattac	15	11	7	8	0	3	2	1	1	2	2	3	4	3	3	0	2	2	1	0	2	6	6			TCGA-VP-A87H-01A-11D-A34U-08	TCGA-VP-A87H-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83d97b01-92e2-41d7-acca-2d96a560970b	d500dcf5-dcd0-4372-b69e-011974798a94	g.chr15:72300187T>C	ENST00000356056.5	-	8	1832	c.1360A>G	c.(1360-1362)Att>Gtt	p.I454V	MYO9A_ENST00000424560.1_Missense_Mutation_p.I454V|RP11-390D11.1_ENST00000568391.1_RNA|MYO9A_ENST00000563542.1_5'UTR|MYO9A_ENST00000444904.1_Missense_Mutation_p.I435V|MYO9A_ENST00000564571.1_Missense_Mutation_p.I454V|MYO9A_ENST00000566885.1_Missense_Mutation_p.I49V	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN	myosin IXA	454	Myosin motor.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|visual perception (GO:0007601)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|unconventional myosin complex (GO:0016461)	ATP binding (GO:0005524)|GTPase activator activity (GO:0005096)|metal ion binding (GO:0046872)|motor activity (GO:0003774)			NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						TCTGAGACAATAGGCAGAACT	0.323																																						ENST00000356056.5																			0				NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						c.(1360-1362)Att>Gtt		myosin IXA							106	106	106					15																	72300187		2199	4297	6496	SO:0001583	missense	4649				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception	cytosol|integral to membrane|unconventional myosin complex	actin binding|ATP binding|GTPase activator activity|metal ion binding|motor activity	g.chr15:72300187T>C	AF117888	CCDS10239.1	15q22-q23	2011-09-27			ENSG00000066933	ENSG00000066933		"Myosins / Myosin superfamily : Class IX"	7608	protein-coding gene	gene with protein product		604875				10409426	Standard	NM_006901		Approved	FLJ11061, FLJ13244, MGC71859	uc002atl.5	B2RTY4	OTTHUMG00000133440	ENST00000356056.5:c.1360A>G	15.37:g.72300187T>C	ENSP00000348349:p.Ile454Val					MYO9A_ENST00000424560.1_Missense_Mutation_p.I454V|MYO9A_ENST00000444904.1_Missense_Mutation_p.I435V|RP11-390D11.1_ENST00000568391.1_RNA|MYO9A_ENST00000564571.1_Missense_Mutation_p.I454V|MYO9A_ENST00000563542.1_5'UTR|MYO9A_ENST00000566885.1_Missense_Mutation_p.I49V	p.I454V	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN			8	1832	-			454			Myosin head-like 1.		B0I1T5|C9IYB3|C9JA86|Q14787|Q3YLD7|Q3YLD8|Q6P986|Q9H8T5|Q9NTG2|Q9NUY2|Q9UEP3|Q9UNJ2	Missense_Mutation	SNP	ENST00000356056.5	37	c.1360A>G	CCDS10239.1	.	.	.	.	.	.	.	.	.	.	T	8.757	0.922614	0.18056	.	.	ENSG00000066933	ENST00000356056;ENST00000424560;ENST00000444904;ENST00000261864;ENST00000446448	D;D;D	0.87729	-2.29;-2.29;-2.29	5.17	-7.23	0.01480	Myosin head, motor domain (2);	.	.	.	.	T	0.73682	0.3618	L	0.31065	0.9	0.35136	D	0.768411	B;B;B;B	0.06786	0.001;0.0;0.0;0.001	B;B;B;B	0.10450	0.005;0.001;0.004;0.004	T	0.59069	-0.7523	9	0.02654	T	1	.	14.4447	0.67342	0.0:0.5077:0.0:0.4923	.	435;454;435;454	B2RTY4-2;B2RTY4-3;B7WP69;B2RTY4	.;.;.;MYO9A_HUMAN	V	454;454;435;435;454	ENSP00000348349:I454V;ENSP00000399162:I454V;ENSP00000398250:I435V	ENSP00000261864:I435V	I	-	1	0	MYO9A	70087241	0.002000	0.14202	0.538000	0.28064	0.951000	0.60555	-0.038000	0.12144	-1.771000	0.01293	-1.299000	0.01334	ATT		0.323	MYO9A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257308.1	NM_006901		18	35	0	0	0	1	0	18	35					C	72300187	T	C	72300187	3	2	418	1	0	0	0	0	1	0	0	0	10084	1406	49	4	6426	4	MYO9A	15	72300187	Missense_Mutation	SNP	T	TCGA-VP-A87H-01A-11D-A34U-08	38197347	72300187	30231205	31	20275											
TMC7	79905	broad.mit.edu	37	chr16	19047013	19047013	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtcaggtcggtggaaggattCaaaatcaacctgattcggag	12	9	13	7	2	3	1	3	1	0	0	5	4	3	4	1	5	1	0	1	5	4	2			TCGA-VP-A87H-01A-11D-A34U-08	TCGA-VP-A87H-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83d97b01-92e2-41d7-acca-2d96a560970b	d500dcf5-dcd0-4372-b69e-011974798a94	g.chr16:19047013C>T	ENST00000304381.5	+	7	1003	c.873C>T	c.(871-873)ttC>ttT	p.F291F	TMC7_ENST00000569532.1_Silent_p.F291F|TMC7_ENST00000421369.3_Silent_p.F181F|TMC7_ENST00000561963.1_3'UTR	NM_024847.3	NP_079123.3	Q7Z402	TMC7_HUMAN	transmembrane channel-like 7	291					ion transport (GO:0006811)	integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	28						TGGAAGGATTCAAAATCAACC	0.458																																						ENST00000421369.3																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	28						c.(541-543)ttC>ttT		transmembrane channel-like 7							138	124	129					16																	19047013		2197	4300	6497	SO:0001819	synonymous_variant	79905					integral to membrane		g.chr16:19047013C>T	AY263165	CCDS10573.1, CCDS53992.1, CCDS73837.1	16p13.11	2008-02-05			ENSG00000170537	ENSG00000170537			23000	protein-coding gene	gene with protein product						12812529, 12906855	Standard	XM_005255597		Approved	FLJ21240	uc002dfq.3	Q7Z402	OTTHUMG00000131456	ENST00000304381.5:c.873C>T	16.37:g.19047013C>T						TMC7_ENST00000561963.1_3'UTR|TMC7_ENST00000569532.1_Silent_p.F291F|TMC7_ENST00000304381.5_Silent_p.F291F	p.F181F	NM_001160364.1	NP_001153836.1	Q7Z402	TMC7_HUMAN			7	1101	+			291					E7ERB6|Q5H9Q8|Q7Z5M4|Q86WX0|Q9H766	Silent	SNP	ENST00000304381.5	37	c.543C>T	CCDS10573.1																																																																																				0.458	TMC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254276.3	NM_024847		44	34	0	0	0	1	0	44	34					T	19047013	C	T	19047013	2	4	418	1	0	0	0	0	0	0	0	1	15987	825	29	3		3	TMC7	16	19047013	Silent	SNP	C	TCGA-VP-A87H-01A-11D-A34U-08		19047013	71307740	32	20276											
SEZ6L2	26470	broad.mit.edu	37	chr16	29891286	29891286	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagggcatatcctgggaggCacgagaaggttgccagtgcc	9	6	15	11	1	0	1	0	0	0	1	1	3	1	2	4	4	2	3	4	4	2	2			TCGA-VP-A87H-01A-11D-A34U-08	TCGA-VP-A87H-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83d97b01-92e2-41d7-acca-2d96a560970b	d500dcf5-dcd0-4372-b69e-011974798a94	g.chr16:29891286C>T	ENST00000308713.5	-	9	1999	c.1472G>A	c.(1471-1473)tGc>tAc	p.C491Y	SEZ6L2_ENST00000350527.3_Missense_Mutation_p.C421Y|SEZ6L2_ENST00000537485.1_Missense_Mutation_p.C447Y|SEZ6L2_ENST00000346932.5_Missense_Mutation_p.C377Y	NM_001114099.2|NM_201575.3	NP_001107571.1|NP_963869.2	Q6UXD5	SE6L2_HUMAN	seizure related 6 homolog (mouse)-like 2	491	Sushi 2. {ECO:0000255|PROSITE- ProRule:PRU00302}.				adult locomotory behavior (GO:0008344)|cerebellar Purkinje cell layer development (GO:0021680)|regulation of protein kinase C signaling (GO:0090036)|synapse maturation (GO:0060074)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)				breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TCCTGGGAGGCACGAGAAGGT	0.617																																						ENST00000308713.5																			0				breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						c.(1471-1473)tGc>tAc		seizure related 6 homolog (mouse)-like 2							102	94	97					16																	29891286		2197	4300	6497	SO:0001583	missense	26470					endoplasmic reticulum membrane|integral to membrane|plasma membrane		g.chr16:29891286C>T	AY358404	CCDS10658.1, CCDS10659.1, CCDS45458.1, CCDS58447.1, CCDS73865.1	16p12.1	2008-02-05			ENSG00000174938	ENSG00000174938			30844	protein-coding gene	gene with protein product	"type I transmembrane receptor (seizure related protein)"					12975309	Standard	NM_012410		Approved	PSK-1, FLJ90517	uc010vec.2	Q6UXD5	OTTHUMG00000132112	ENST00000308713.5:c.1472G>A	16.37:g.29891286C>T	ENSP00000312550:p.Cys491Tyr					SEZ6L2_ENST00000537485.1_Missense_Mutation_p.C447Y|SEZ6L2_ENST00000350527.3_Missense_Mutation_p.C421Y|SEZ6L2_ENST00000346932.5_Missense_Mutation_p.C377Y	p.C491Y	NM_001114099.2|NM_201575.3	NP_001107571.1|NP_963869.2	Q6UXD5	SE6L2_HUMAN			9	1999	-			491			Sushi 2.		B7Z1N0|F5H293|H7BXQ6|Q9BW82|Q9UJ45|Q9UJ46|Q9UJ47	Missense_Mutation	SNP	ENST00000308713.5	37	c.1472G>A	CCDS10659.1	.	.	.	.	.	.	.	.	.	.	C	29.1	4.974637	0.92919	.	.	ENSG00000174938	ENST00000350527;ENST00000308713;ENST00000346932;ENST00000537485	D;D;D;D	0.99784	-6.74;-6.74;-6.74;-6.74	5.26	5.26	0.73747	Complement control module (2);Sushi/SCR/CCP (3);	0.098987	0.45867	D	0.000337	D	0.99677	0.9879	M	0.66297	2.02	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;0.989;0.996;0.983;0.986;0.983	D;P;P;P;P;P	0.75484	0.986;0.832;0.897;0.804;0.876;0.804	D	0.97660	1.0160	10	0.87932	D	0	.	17.8014	0.88589	0.0:1.0:0.0:0.0	.	447;491;377;421;491;421	F5H293;B7Z5L4;Q9BW82;Q6UXD5-2;Q6UXD5;Q6UXD5-3	.;.;.;.;SE6L2_HUMAN;.	Y	421;491;377;447	ENSP00000310206:C421Y;ENSP00000312550:C491Y;ENSP00000319215:C377Y;ENSP00000439412:C447Y	ENSP00000312550:C491Y	C	-	2	0	SEZ6L2	29798787	1.000000	0.71417	1.000000	0.80357	0.917000	0.54804	7.320000	0.79064	2.735000	0.93741	0.655000	0.94253	TGC		0.617	SEZ6L2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255154.2	NM_012410		15	93	0	0	0	1	0	15	93					T	29891286	C	T	29891286	3	4	418	1	0	0	0	0	1	0	0	0	14144	710	25	3	1339	3	SEZ6L2	16	29891286	Missense_Mutation	SNP	C	TCGA-VP-A87H-01A-11D-A34U-08	10844273	29891286	60463467	33	20277											
ACADVL	37	broad.mit.edu	37	chr17	7127384	7127385	+	Frame_Shift_Ins	INS	-	-	T																															tttgtggctctgcagggctgINStatggtaagacagagaattg																										TCGA-VP-A87H-01A-11D-A34U-08	TCGA-VP-A87H-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83d97b01-92e2-41d7-acca-2d96a560970b	d500dcf5-dcd0-4372-b69e-011974798a94	g.chr17:7127384_7127385insT	ENST00000356839.5	+	14	1609_1610	c.1430_1431insT	c.(1429-1434)tgtatgfs	p.M478fs	MIR324_ENST00000362183.1_RNA|ACADVL_ENST00000543245.2_Frame_Shift_Ins_p.M501fs|ACADVL_ENST00000350303.5_Frame_Shift_Ins_p.M456fs	NM_000018.3|NM_001270448.1	NP_000009.1|NP_001257377.1	P49748	ACADV_HUMAN	acyl-CoA dehydrogenase, very long chain	478	Catalytic.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular lipid metabolic process (GO:0044255)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|energy derivation by oxidation of organic compounds (GO:0015980)|epithelial cell differentiation (GO:0030855)|fatty acid beta-oxidation (GO:0006635)|fatty acid beta-oxidation using acyl-CoA dehydrogenase (GO:0033539)|negative regulation of fatty acid biosynthetic process (GO:0045717)|negative regulation of fatty acid oxidation (GO:0046322)|regulation of cholesterol metabolic process (GO:0090181)|small molecule metabolic process (GO:0044281)|temperature homeostasis (GO:0001659)	cytoplasm (GO:0005737)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	acyl-CoA dehydrogenase activity (GO:0003995)|flavin adenine dinucleotide binding (GO:0050660)|long-chain-acyl-CoA dehydrogenase activity (GO:0004466)			breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(2)|liver(2)|lung(1)|ovary(4)|skin(1)	21						CTGCAGGGCTGTATGGTAAGAC	0.54																																						ENST00000356839.5																			0				breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(2)|liver(2)|lung(1)|ovary(4)|skin(1)	21	GRCh37	CM004186	ACADVL	M		c.(1429-1431)tatfs		acyl-CoA dehydrogenase, very long chain																																				SO:0001589	frameshift_variant	37				energy derivation by oxidation of organic compounds|fatty acid beta-oxidation using acyl-CoA dehydrogenase|negative regulation of fatty acid biosynthetic process|negative regulation of fatty acid oxidation|regulation of cholesterol metabolic process|temperature homeostasis	mitochondrial inner membrane|mitochondrial nucleoid	long-chain-acyl-CoA dehydrogenase activity	g.chr17:7127384_7127385insT	BC012912	CCDS11090.1, CCDS42249.1, CCDS58509.1	17p13.1	2010-04-30	2010-04-30		ENSG00000072778	ENSG00000072778			92	protein-coding gene	gene with protein product		609575	"acyl-Coenzyme A dehydrogenase, very long chain"			8921384	Standard	NM_000018		Approved	VLCAD, LCACD, ACAD6	uc002gev.4	P49748	OTTHUMG00000102157	ENST00000356839.5:c.1431dupT	17.37:g.7127385_7127385dupT	ENSP00000349297:p.Met478fs					ACADVL_ENST00000543245.2_Frame_Shift_Ins_p.Y500fs|ACADVL_ENST00000350303.5_Frame_Shift_Ins_p.Y455fs	p.Y477fs	NM_000018.3|NM_001270448.1	NP_000009.1|NP_001257377.1	P49748	ACADV_HUMAN			14	1609_1610	+			477			Catalytic.		B4DEB6|F5H2A9|O76056|Q8WUL0	Frame_Shift_Ins	INS	ENST00000356839.5	37	c.1430_1431insT	CCDS11090.1																																																																																				0.54	ACADVL-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000220001.5	NM_000018		10	39						10	39	---	---	---	---	T	7127385	-	T	7127384	7	5	418	1	0	1	1	0	0	0	0	0	116	1377	48	0	1484	0	ACADVL	17	7127384	Frame_Shift_Ins	INS	-	TCGA-VP-A87H-01A-11D-A34U-08		7127384	74067826	34	20278											
SPOP	8405	broad.mit.edu	37	chr17	47696426	47696426	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tctacggatgaatttcttgaAtccccagtctttgccttgca	8	15	7	11	1	3	2	0	2	3	0	4	3	4	3	3	1	3	1	3	1	3	5			TCGA-VP-A87H-01A-11D-A34U-08	TCGA-VP-A87H-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83d97b01-92e2-41d7-acca-2d96a560970b	d500dcf5-dcd0-4372-b69e-011974798a94	g.chr17:47696426A>C	ENST00000393328.2	-	6	762	c.397T>G	c.(397-399)Ttc>Gtc	p.F133V	SPOP_ENST00000503676.1_Missense_Mutation_p.F133V|SPOP_ENST00000393331.3_Missense_Mutation_p.F133V|SPOP_ENST00000347630.2_Missense_Mutation_p.F133V|SPOP_ENST00000504102.1_Missense_Mutation_p.F133V|SPOP_ENST00000513080.1_5'Flank	NM_003563.3	NP_003554.1	O43791	SPOP_HUMAN	speckle-type POZ protein	133	Important for binding substrate proteins.|MATH. {ECO:0000255|PROSITE- ProRule:PRU00129}.|Required for nuclear localization.				glucose homeostasis (GO:0042593)|positive regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902237)|positive regulation of type B pancreatic cell apoptotic process (GO:2000676)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	Cul3-RING ubiquitin ligase complex (GO:0031463)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	ubiquitin protein ligase binding (GO:0031625)	p.F133V(4)		endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						AATTTCTTGAATCCCCAGTCT	0.448										Prostate(2;0.17)																												ENST00000393331.3																			4	Substitution - Missense(4)	p.F133V(4)	prostate(4)	endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						c.(397-399)Ttc>Gtc		speckle-type POZ protein							119	121	120					17																	47696426		2203	4300	6503	SO:0001583	missense	8405				mRNA processing	nucleus	protein binding	g.chr17:47696426A>C	AJ000644	CCDS11551.1	17q21.33	2013-01-09			ENSG00000121067	ENSG00000121067		"BTB/POZ domain containing"	11254	protein-coding gene	gene with protein product		602650				9414087	Standard	NM_001007227		Approved	TEF2, BTBD32	uc002ipg.3	O43791	OTTHUMG00000161496	ENST00000393328.2:c.397T>G	17.37:g.47696426A>C	ENSP00000377001:p.Phe133Val	Prostate(2;0.17)				SPOP_ENST00000504102.1_Missense_Mutation_p.F133V|SPOP_ENST00000503676.1_Missense_Mutation_p.F133V|SPOP_ENST00000393328.2_Missense_Mutation_p.F133V|SPOP_ENST00000347630.2_Missense_Mutation_p.F133V	p.F133V	NM_001007226.1|NM_001007227.1	NP_001007227.1|NP_001007228.1	O43791	SPOP_HUMAN			7	867	-			133			MATH.|Required for nuclear localization.		B2R6S3|D3DTW7|Q53HJ1	Missense_Mutation	SNP	ENST00000393328.2	37	c.397T>G	CCDS11551.1	.	.	.	.	.	.	.	.	.	.	A	24.6	4.550963	0.86127	.	.	ENSG00000121067	ENST00000393328;ENST00000393331;ENST00000347630;ENST00000504102;ENST00000503536;ENST00000503676;ENST00000513872;ENST00000509079;ENST00000505581;ENST00000507970;ENST00000514121	T;T;T;T;T;T;T;T;T	0.42513	0.97;0.97;0.97;0.97;0.97;0.97;0.97;0.97;0.97	5.41	5.41	0.78517	TRAF-type (1);TRAF-like (1);MATH (3);	0.000000	0.85682	D	0.000000	T	0.68632	0.3022	M	0.94021	3.485	0.80722	D	1	P	0.35155	0.487	P	0.49637	0.617	T	0.74861	-0.3520	10	0.66056	D	0.02	-9.6576	15.258	0.73599	1.0:0.0:0.0:0.0	.	133	O43791	SPOP_HUMAN	V	133;133;133;133;17;133;86;133;133;133;133	ENSP00000377001:F133V;ENSP00000377004:F133V;ENSP00000240327:F133V;ENSP00000425905:F133V;ENSP00000420908:F133V;ENSP00000426986:F133V;ENSP00000420960:F133V;ENSP00000426262:F133V;ENSP00000424119:F133V	ENSP00000240327:F133V	F	-	1	0	SPOP	45051425	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.131000	0.94446	2.261000	0.74972	0.460000	0.39030	TTC		0.448	SPOP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365154.2	NM_003563		37	88	0	0	0	1	0	37	88					C	47696426	A	C	47696426	3	2	418	1	0	0	0	0	1	0	0	0	15083	101	4	5	751	5	SPOP	17	47696426	Missense_Mutation	SNP	A	TCGA-VP-A87H-01A-11D-A34U-08	40569042	47696426	33498784	35	20279											
FAM100B	283991	broad.mit.edu	37	chr17	74266281	74266281	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttctctcccgcagatgtgcActcccagcaacacccctgcc	7	8	7	19	1	1	1	0	0	1	1	4	1	3	1	5	0	4	4	5	0	1	1			TCGA-VP-A87H-01A-11D-A34U-08	TCGA-VP-A87H-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83d97b01-92e2-41d7-acca-2d96a560970b	d500dcf5-dcd0-4372-b69e-011974798a94	g.chr17:74266281A>G	ENST00000327490.6	+	3	494	c.190A>G	c.(190-192)Act>Gct	p.T64A	UBALD2_ENST00000589240.1_Missense_Mutation_p.T4A	NM_182565.3	NP_872371.1	Q8IYN6	UBAD2_HUMAN	UBA-like domain containing 2	64																	GCAGATGTGCACTCCCAGCAA	0.677																																						ENST00000327490.6																			0											c.(190-192)Act>Gct		UBA-like domain containing 2							25	27	27					17																	74266281		2203	4299	6502	SO:0001583	missense	283991							g.chr17:74266281A>G		CCDS11742.1	17q25.1	2012-11-30	2012-11-30	2012-11-30	ENSG00000185262	ENSG00000185262			28438	protein-coding gene	gene with protein product			"family with sequence similarity 100, member B"	FAM100B			Standard	NM_182565		Approved	MGC29814	uc010wsy.1	Q8IYN6	OTTHUMG00000132666	ENST00000327490.6:c.190A>G	17.37:g.74266281A>G	ENSP00000331298:p.Thr64Ala					UBALD2_ENST00000589240.1_Missense_Mutation_p.T4A	p.T64A	NM_182565.3	NP_872371.1					3	494	+									Missense_Mutation	SNP	ENST00000327490.6	37	c.190A>G	CCDS11742.1	.	.	.	.	.	.	.	.	.	.	A	26.7	4.763424	0.89932	.	.	ENSG00000185262	ENST00000327490	.	.	.	5.48	5.48	0.80851	.	0.000000	0.85682	D	0.000000	T	0.75679	0.3882	M	0.64997	1.995	0.80722	D	1	D	0.71674	0.998	D	0.80764	0.994	T	0.74312	-0.3706	9	0.33940	T	0.23	-29.2164	15.2545	0.73573	1.0:0.0:0.0:0.0	.	64	Q8IYN6	F100B_HUMAN	A	64	.	ENSP00000331298:T64A	T	+	1	0	FAM100B	71777876	1.000000	0.71417	0.986000	0.45419	0.950000	0.60333	7.402000	0.79972	2.074000	0.62210	0.459000	0.35465	ACT		0.677	UBALD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255920.1	NM_182565		4	19	0	0	0	1	0	4	19					G	74266281	A	G	74266281	3	3	418	1	0	0	0	0	1	0	0	0	5379	159	6	4	200	4	FAM100B	17	74266281	Missense_Mutation	SNP	A	TCGA-VP-A87H-01A-11D-A34U-08	26569855	74266281	6928929	36	20280											
LSM14A	26065	broad.mit.edu	37	chr19	34685513	34685514	+	Frame_Shift_Ins	INS	-	-	T																															gtgagccaccaaaaccacagINStgttctttgcctcaagaccc																										TCGA-VP-A87H-01A-11D-A34U-08	TCGA-VP-A87H-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83d97b01-92e2-41d7-acca-2d96a560970b	d500dcf5-dcd0-4372-b69e-011974798a94	g.chr19:34685513_34685514insT	ENST00000433627.5	+	2	327_328	c.252_253insT	c.(253-255)tgtfs	p.C85fs	LSM14A_ENST00000540746.2_Frame_Shift_Ins_p.C85fs|LSM14A_ENST00000544216.3_Frame_Shift_Ins_p.C85fs	NM_001114093.1	NP_001107565.1	Q8ND56	LS14A_HUMAN	LSM14A, SCD6 homolog A (S. cerevisiae)	85					cytoplasmic mRNA processing body assembly (GO:0033962)|multicellular organismal development (GO:0007275)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340)|regulation of translation (GO:0006417)|RIG-I signaling pathway (GO:0039529)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytoplasmic stress granule (GO:0010494)|intracellular membrane-bounded organelle (GO:0043231)	double-stranded DNA binding (GO:0003690)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)|single-stranded RNA binding (GO:0003727)			breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(7)|skin(1)	22	Esophageal squamous(110;0.162)					CAAAACCACAGTGTTCTTTGCC	0.431																																						ENST00000544216.3																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(7)|skin(1)	22						c.(250-255)cagttcfs		LSM14A, SCD6 homolog A (S. cerevisiae)																																				SO:0001589	frameshift_variant	26065				cytoplasmic mRNA processing body assembly|multicellular organismal development|regulation of translation	cytoplasmic mRNA processing body|intracellular membrane-bounded organelle|stress granule		g.chr19:34685513_34685514insT	AL834398	CCDS12435.1, CCDS46040.1	19q13.12	2010-01-27	2006-12-21	2006-01-24		ENSG00000257103			24489	protein-coding gene	gene with protein product		610677	"chromosome 19 open reading frame 13", "family with sequence similarity 61, member A", "LSM14 homolog A (SCD6, S. cerevisiae)"	C19orf13, FAM61A		12477932	Standard	NM_015578		Approved	DKFZP434D1335, RAP55A, RAP55	uc002nva.4	Q8ND56		ENST00000433627.5:c.253dupT	19.37:g.34685514_34685514dupT	ENSP00000413964:p.Cys85fs					LSM14A_ENST00000540746.2_Frame_Shift_Ins_p.QF84fs|LSM14A_ENST00000433627.5_Frame_Shift_Ins_p.QF84fs	p.QF84fs	NM_015578.2	NP_056393.2	Q8ND56	LS14A_HUMAN			2	329_330	+	Esophageal squamous(110;0.162)		84					B4DTG6|Q76LX7|Q96AR3|Q96K73|Q96SN5|Q9UFR3	Frame_Shift_Ins	INS	ENST00000433627.5	37	c.252_253insT	CCDS46040.1																																																																																				0.431	LSM14A-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000451576.3	NM_015578		14	117						14	117	---	---	---	---	T	34685514	-	T	34685513	7	5	418	1	0	1	1	0	0	0	0	0	9054	1020	36	0	258	0	LSM14A	19	34685513	Frame_Shift_Ins	INS	-	TCGA-VP-A87H-01A-11D-A34U-08		34685513	24443470	37	20281											
SLC17A7	57030	broad.mit.edu	37	chr19	49935776	49935776	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaggccccgccccactcacCtccgcagttcatcaacttgc	7	7	6	21	2	3	0	3	0	0	0	4	0	4	0	7	1	2	2	7	1	1	2	rs35127332		TCGA-VP-A87H-01A-11D-A34U-08	TCGA-VP-A87H-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83d97b01-92e2-41d7-acca-2d96a560970b	d500dcf5-dcd0-4372-b69e-011974798a94	g.chr19:49935776C>T	ENST00000221485.3	-	9	1321	c.1150G>A	c.(1150-1152)Ggc>Agc	p.G384S	SLC17A7_ENST00000543531.1_Splice_Site_p.G372S|SLC17A7_ENST00000600601.1_Splice_Site_p.G317S	NM_020309.3	NP_064705.1	Q9P2U7	VGLU1_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 7	384					glutamate secretion (GO:0014047)|ion transport (GO:0006811)|L-glutamate import (GO:0051938)|long-term memory (GO:0007616)|neurotransmitter secretion (GO:0007269)|phosphate ion transmembrane transport (GO:0035435)|phosphate ion transport (GO:0006817)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|sequestering of neurotransmitter (GO:0042137)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|cerebellar mossy fiber (GO:0044300)|clathrin-sculpted glutamate transport vesicle membrane (GO:0060203)|excitatory synapse (GO:0060076)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)|synaptic vesicle membrane (GO:0030672)	inorganic phosphate transmembrane transporter activity (GO:0005315)|L-glutamate transmembrane transporter activity (GO:0005313)|sodium-dependent phosphate transmembrane transporter activity (GO:0015321)|sodium:inorganic phosphate symporter activity (GO:0015319)			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(7)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	26		all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(486;0.0245)		CCCCACTCACCTCCGCAGTTC	0.642																																						ENST00000221485.3																			0				autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(7)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	26						c.e9+1		solute carrier family 17 (vesicular glutamate transporter), member 7							15	17	16					19																	49935776		2199	4297	6496	SO:0001630	splice_region_variant	57030				glutamate secretion|neurotransmitter secretion	cell junction|clathrin sculpted glutamate transport vesicle membrane|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|sodium-dependent phosphate transmembrane transporter activity|sodium:inorganic phosphate symporter activity	g.chr19:49935776C>T	AB032436	CCDS12764.1	19q13.33	2013-07-18	2013-07-18		ENSG00000104888	ENSG00000104888		"Solute carriers"	16704	protein-coding gene	gene with protein product	"vesicular glutamate transporter 1"	605208	"solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 7"			8632143, 10820226	Standard	NM_020309		Approved	BNPI, VGLUT1	uc002pnp.3	Q9P2U7		ENST00000221485.3:c.1150+1G>A	19.37:g.49935776C>T						SLC17A7_ENST00000543531.1_Splice_Site_p.G372_splice|SLC17A7_ENST00000600601.1_Splice_Site_p.G317_splice	p.G384_splice	NM_020309.3	NP_064705.1	Q9P2U7	VGLU1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(486;0.0245)	9	1321	-		all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392)	384					B4DFR9|B4DG46|Q6PCD0	Splice_Site	SNP	ENST00000221485.3	37	c.1150_splice	CCDS12764.1	.	.	.	.	.	.	.	.	.	.	C	29.0	4.967586	0.92855	.	.	ENSG00000104888	ENST00000221485;ENST00000543531	T;T	0.61980	0.06;0.06	3.87	3.87	0.44632	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.53938	D	0.000058	T	0.76328	0.3972	M	0.70842	2.15	0.80722	D	1	P	0.47910	0.902	D	0.70487	0.969	T	0.76702	-0.2862	9	.	.	.	.	13.7066	0.62644	0.0:1.0:0.0:0.0	.	384	Q9P2U7	VGLU1_HUMAN	S	384;372	ENSP00000221485:G384S;ENSP00000441767:G372S	.	G	-	1	0	SLC17A7	54627588	1.000000	0.71417	1.000000	0.80357	0.574000	0.36063	7.430000	0.80321	2.187000	0.69744	0.491000	0.48974	GGC		0.642	SLC17A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465367.2		Missense_Mutation	3	8	0	0	0	1	0	3	8					T	49935776	C	T	49935776	5	4	418	1	0	0	0	0	0	0	1	0	14422	695	24	3	548	3	SLC17A7	19	49935776	Splice_Site	SNP	C	TCGA-VP-A87H-01A-11D-A34U-08	15250263	49935776	9193207	38	20282											
DOPEY2	9980	broad.mit.edu	37	chr21	37605187	37605187	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gactgctacctccagaacgtGgccatttccactctgctgga	8	10	9	14	1	1	1	0	0	1	1	3	3	3	2	4	2	4	2	4	2	2	2			TCGA-VP-A87H-01A-11D-A34U-08	TCGA-VP-A87H-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83d97b01-92e2-41d7-acca-2d96a560970b	d500dcf5-dcd0-4372-b69e-011974798a94	g.chr21:37605187G>C	ENST00000399151.3	+	15	2521	c.2436G>C	c.(2434-2436)gtG>gtC	p.V812V		NM_005128.2	NP_005119.2	Q9Y3R5	DOP2_HUMAN	dopey family member 2	812					cognition (GO:0050890)|endoplasmic reticulum organization (GO:0007029)|Golgi to endosome transport (GO:0006895)|multicellular organismal development (GO:0007275)|protein transport (GO:0015031)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						TCCAGAACGTGGCCATTTCCA	0.498																																						ENST00000399151.3																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						c.(2434-2436)gtG>gtC		dopey family member 2							143	128	133					21																	37605187		2203	4300	6503	SO:0001819	synonymous_variant	9980				endoplasmic reticulum organization|Golgi to endosome transport|multicellular organismal development|protein transport	Golgi membrane		g.chr21:37605187G>C	AJ237839	CCDS13643.1	21q22.2	2013-03-05	2006-02-02	2006-02-02	ENSG00000142197	ENSG00000142197			1291	protein-coding gene	gene with protein product		604803	"chromosome 21 open reading frame 5"	C21orf5		16301316, 16303751, 10931277	Standard	NM_005128		Approved	KIAA0933	uc002yvg.3	Q9Y3R5	OTTHUMG00000086619	ENST00000399151.3:c.2436G>C	21.37:g.37605187G>C							p.V812V	NM_005128.2	NP_005119.2	Q9Y3R5	DOP2_HUMAN			15	2521	+			812					D3DSG5|Q6PJQ7|Q9UEZ3	Silent	SNP	ENST00000399151.3	37	c.2436G>C	CCDS13643.1																																																																																				0.498	DOPEY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194636.1	NM_005128		16	116	0	0	0	1	0	16	116					C	37605187	G	C	37605187	2	2	418	1	0	0	0	0	0	0	0	1	4708	1335	47	5		5	DOPEY2	21	37605187	Silent	SNP	G	TCGA-VP-A87H-01A-11D-A34U-08		37605187	10524708	39	20283											
ARID1A	8289	broad.mit.edu	37	chr1	27100117	27100117	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gaaacatgagcactggggccCcacagccgaatctcatgcct	11	6	10	14	1	1	1	1	1	1	0	2	3	1	1	4	2	4	1	4	2	2	0			TCGA-VP-A87J-01A-11D-A34U-08	TCGA-VP-A87J-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc7970c4-93d3-4646-9de0-8fd9c5d420d8	981257f9-1967-453d-8bd8-723f254f32c6	g.chr1:27100117C>T	ENST00000324856.7	+	16	4284	c.3913C>T	c.(3913-3915)Cca>Tca	p.P1305S	ARID1A_ENST00000540690.1_5'UTR|ARID1A_ENST00000457599.2_Missense_Mutation_p.P1305S|ARID1A_ENST00000374152.2_Missense_Mutation_p.P922S	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	1305					androgen receptor signaling pathway (GO:0030521)|ATP-dependent chromatin remodeling (GO:0043044)|cardiac chamber development (GO:0003205)|chromatin remodeling (GO:0006338)|chromatin-mediated maintenance of transcription (GO:0048096)|forebrain development (GO:0030900)|glucocorticoid receptor signaling pathway (GO:0042921)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|nucleosome disassembly (GO:0006337)|nucleosome mobilization (GO:0042766)|optic cup formation involved in camera-type eye development (GO:0003408)|placenta blood vessel development (GO:0060674)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|transcription coactivator activity (GO:0003713)		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		CACTGGGGCCCCACAGCCGAA	0.577			"Mis, N, F, S, D"		"clear cell ovarian carcinoma, RCC"																																	ENST00000324856.7				Rec	yes		1	1p35.3	8289	"Mis, N, F, S, D"	AT rich interactive domain 1A (SWI-like)			E			"clear cell ovarian carcinoma, RCC"	ARID1A/MAST2_ENST00000361297(2)	0				NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411						c.(3913-3915)Cca>Tca		AT rich interactive domain 1A (SWI-like)							66	75	72					1																	27100117		2203	4300	6503	SO:0001583	missense	8289				androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding	g.chr1:27100117C>T	AB001895	CCDS285.1, CCDS44091.1	1p36.1-p35	2014-09-17	2006-11-08	2004-01-30	ENSG00000117713	ENSG00000117713		"-"	11110	protein-coding gene	gene with protein product		603024	"SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily f, member 1", "AT rich interactive domain 1A (SWI- like)"	C1orf4, SMARCF1		9630625, 9434167	Standard	NM_139135		Approved	B120, P270, C10rf4, BAF250, BAF250a	uc001bmv.1	O14497	OTTHUMG00000004004	ENST00000324856.7:c.3913C>T	1.37:g.27100117C>T	ENSP00000320485:p.Pro1305Ser					ARID1A_ENST00000457599.2_Missense_Mutation_p.P1305S|ARID1A_ENST00000540690.1_5'UTR|ARID1A_ENST00000374152.2_Missense_Mutation_p.P922S	p.P1305S	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)	16	4284	+		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	1305					D3DPL1|Q53FK9|Q5T0W1|Q5T0W2|Q5T0W3|Q8NFD6|Q96T89|Q9BY33|Q9HBJ5|Q9UPZ1	Missense_Mutation	SNP	ENST00000324856.7	37	c.3913C>T	CCDS285.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.54|16.54	3.151224|3.151224	0.57151|0.57151	.|.	.|.	ENSG00000117713|ENSG00000117713	ENST00000430799|ENST00000324856;ENST00000457599;ENST00000374152	.|T;T;T	.|0.02682	.|4.37;4.2;4.2	5.02|5.02	5.02|5.02	0.67125|0.67125	.|.	0.109412|0.109412	0.64402|0.64402	D|D	0.000005|0.000005	T|T	0.02533|0.02533	0.0077|0.0077	N|N	0.14661|0.14661	0.345|0.345	0.80722|0.80722	D|D	1|1	.|B;P;P;P	.|0.48294	.|0.386;0.851;0.908;0.851	.|B;B;B;B	.|0.43916	.|0.124;0.253;0.436;0.253	T|T	0.68735|0.68735	-0.5330|-0.5330	6|10	.|0.15952	.|T	.|0.53	-5.6034|-5.6034	13.5032|13.5032	0.61469|0.61469	0.156:0.844:0.0:0.0|0.156:0.844:0.0:0.0	.|.	.|922;1305;1305;958	.|O14497-3;O14497;O14497-2;Q4LE49	.|.;ARI1A_HUMAN;.;.	L|S	201|1305;1305;922	.|ENSP00000320485:P1305S;ENSP00000387636:P1305S;ENSP00000363267:P922S	.|ENSP00000320485:P1305S	P|P	+|+	2|1	0|0	ARID1A|ARID1A	26972704|26972704	0.995000|0.995000	0.38212|0.38212	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	3.486000|3.486000	0.53215|0.53215	2.627000|2.627000	0.88993|0.88993	0.655000|0.655000	0.94253|0.94253	CCC|CCA		0.577	ARID1A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000011437.2	NM_139135		11	61	0	0	0	1	0	11	61					T	27100117	C	T	27100117	3	4	419	1	0	0	0	0	1	0	0	0	913	623	22	3	3975	3	ARID1A	1	27100117	Missense_Mutation	SNP	C	TCGA-VP-A87J-01A-11D-A34U-08		27100117	222150504	1	20284											
LRRC7	57554	broad.mit.edu	37	chr1	70482159	70482159	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tttttgcagattgaagaattTaccattctcatttaccaaac	13	16	4	8	0	1	3	1	1	1	2	2	3	1	3	2	0	4	1	2	0	5	8			TCGA-VP-A87J-01A-11D-A34U-08	TCGA-VP-A87J-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc7970c4-93d3-4646-9de0-8fd9c5d420d8	981257f9-1967-453d-8bd8-723f254f32c6	g.chr1:70482159T>C	ENST00000035383.5	+	12	1178	c.1148T>C	c.(1147-1149)tTa>tCa	p.L383S	RP11-181B18.1_ENST00000414132.1_RNA|LRRC7_ENST00000310961.5_Missense_Mutation_p.L388S|LRRC7_ENST00000415775.2_5'UTR	NM_020794.2	NP_065845.1	Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	383						cell junction (GO:0030054)|cytoplasm (GO:0005737)|postsynaptic membrane (GO:0045211)				breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						TTGAAGAATTTACCATTCTCA	0.299																																						ENST00000310961.5																			0				breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						c.(1162-1164)tTa>tCa		leucine rich repeat containing 7							107	112	110					1																	70482159		2202	4295	6497	SO:0001583	missense	57554					centrosome|focal adhesion|nucleolus	protein binding	g.chr1:70482159T>C		CCDS645.1	1p31.1	2008-02-05			ENSG00000033122	ENSG00000033122			18531	protein-coding gene	gene with protein product		614453				12525888	Standard	NM_020794		Approved	KIAA1365, densin-180	uc001dep.3	Q96NW7	OTTHUMG00000059194	ENST00000035383.5:c.1148T>C	1.37:g.70482159T>C	ENSP00000035383:p.Leu383Ser					LRRC7_ENST00000415775.2_5'UTR|RP11-181B18.1_ENST00000414132.1_RNA|LRRC7_ENST00000035383.5_Missense_Mutation_p.L383S	p.L388S			Q96NW7	LRRC7_HUMAN			15	1581	+			383					Q5VXC2|Q5VXC3|Q68D07|Q86VE8|Q8WX20|Q9P2I2	Missense_Mutation	SNP	ENST00000035383.5	37	c.1163T>C	CCDS645.1	.	.	.	.	.	.	.	.	.	.	T	22.6	4.308328	0.81247	.	.	ENSG00000033122	ENST00000310961;ENST00000035383;ENST00000370957	T;T	0.20069	2.1;2.1	5.43	5.43	0.79202	.	0.000000	0.64402	D	0.000002	T	0.50103	0.1596	M	0.93550	3.43	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.65055	-0.6261	10	0.87932	D	0	.	14.941	0.70994	0.0:0.0:0.0:1.0	.	383	Q96NW7	LRRC7_HUMAN	S	388;383;206	ENSP00000309245:L388S;ENSP00000035383:L383S	ENSP00000035383:L383S	L	+	2	0	LRRC7	70254747	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.407000	0.80029	2.171000	0.68590	0.528000	0.53228	TTA		0.299	LRRC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131261.1	NM_020794		8	98	0	0	0	1	0	8	98					C	70482159	T	C	70482159	3	2	419	1	0	0	0	0	1	0	0	0	9020	1764	61	4	1194	4	LRRC7	1	70482159	Missense_Mutation	SNP	T	TCGA-VP-A87J-01A-11D-A34U-08	43382042	70482159	178768462	2	20285											
HRNR	388697	broad.mit.edu	37	chr1	152192453	152192453	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	agctggaagactgcctggaaCcagactcatgtcggccacgg	10	6	13	12	2	1	2	1	0	0	2	2	4	1	4	3	4	3	1	3	4	2	0			TCGA-VP-A87J-01A-11D-A34U-08	TCGA-VP-A87J-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc7970c4-93d3-4646-9de0-8fd9c5d420d8	981257f9-1967-453d-8bd8-723f254f32c6	g.chr1:152192453C>G	ENST00000368801.2	-	3	1727	c.1652G>C	c.(1651-1653)gGt>gCt	p.G551A	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	551					establishment of skin barrier (GO:0061436)|hematopoietic progenitor cell differentiation (GO:0002244)|keratinization (GO:0031424)	cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTGCCTGGAACCAGACTCATG	0.592																																						ENST00000368801.2																			0				autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192						c.(1651-1653)gGt>gCt		hornerin							145	155	151					1																	152192453		2203	4300	6503	SO:0001583	missense	388697				keratinization		calcium ion binding|protein binding	g.chr1:152192453C>G	AB104446	CCDS30859.1	1q21.3	2013-01-10			ENSG00000197915	ENSG00000197915		"EF-hand domain containing"	20846	protein-coding gene	gene with protein product	"filaggrin family member 3"						Standard	NM_001009931		Approved	S100a18, S100A16, FLG3	uc001ezt.2	Q86YZ3	OTTHUMG00000012243	ENST00000368801.2:c.1652G>C	1.37:g.152192453C>G	ENSP00000357791:p.Gly551Ala					FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	p.G551A	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	1727	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		551					Q5DT20|Q5U1F4	Missense_Mutation	SNP	ENST00000368801.2	37	c.1652G>C	CCDS30859.1	.	.	.	.	.	.	.	.	.	.	-	6.281	0.419885	0.11928	.	.	ENSG00000197915	ENST00000368801	T	0.01560	4.77	3.71	-1.88	0.07713	.	.	.	.	.	T	0.00300	0.0009	L	0.27053	0.805	0.09310	N	1	P	0.42692	0.787	B	0.35688	0.208	T	0.36504	-0.9745	9	0.05721	T	0.95	.	4.0615	0.09841	0.0:0.3395:0.3409:0.3196	.	551	Q86YZ3	HORN_HUMAN	A	551	ENSP00000357791:G551A	ENSP00000357791:G551A	G	-	2	0	HRNR	150459077	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-0.111000	0.10807	-0.667000	0.05303	0.549000	0.68633	GGT		0.592	HRNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034016.1	XM_373868		6	216	0	0	0	1	0	6	216					G	152192453	C	G	152192453	3	3	419	1	0	0	0	0	1	0	0	0	7359	507	18	5	6904	5	HRNR	1	152192453	Missense_Mutation	SNP	C	TCGA-VP-A87J-01A-11D-A34U-08	81710294	152192453	97058168	3	20286											
LHX9	56956	broad.mit.edu	37	chr1	197898209	197898209	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggggtgttgataaagctgaCggcacgtcgcttccggcccc	6	8	15	12	4	0	2	0	2	0	0	2	2	1	2	3	4	1	4	3	4	2	3			TCGA-VP-A87J-01A-11D-A34U-08	TCGA-VP-A87J-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc7970c4-93d3-4646-9de0-8fd9c5d420d8	981257f9-1967-453d-8bd8-723f254f32c6	g.chr1:197898209C>T	ENST00000367387.4	+	5	1439	c.1014C>T	c.(1012-1014)gaC>gaT	p.D338D	LHX9_ENST00000561173.1_Intron|LHX9_ENST00000367390.3_Silent_p.D329D|LHX9_ENST00000337020.2_Intron|LHX9_ENST00000367391.1_Intron	NM_020204.2	NP_064589.2	Q9NQ69	LHX9_HUMAN	LIM homeobox 9	338					cell proliferation (GO:0008283)|female gonad development (GO:0008585)|gonad morphogenesis (GO:0035262)|male gonad development (GO:0008584)|motor neuron axon guidance (GO:0008045)|negative regulation of transcription, DNA-templated (GO:0045892)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			endometrium(8)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(2)|skin(1)|stomach(1)	35						ATAAAGCTGACGGCACGTCGC	0.547																																						ENST00000367390.3																			0				endometrium(8)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(2)|skin(1)|stomach(1)	35						c.(985-987)gaC>gaT		LIM homeobox 9							70	72	71					1																	197898209		2203	4300	6503	SO:0001819	synonymous_variant	56956				motor axon guidance|negative regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding	g.chr1:197898209C>T	AJ277915	CCDS1393.1, CCDS30962.1	1q31.1	2011-06-20			ENSG00000143355	ENSG00000143355		"Homeoboxes / LIM class"	14222	protein-coding gene	gene with protein product		606066					Standard	NM_020204		Approved		uc001guk.1	Q9NQ69	OTTHUMG00000035656	ENST00000367387.4:c.1014C>T	1.37:g.197898209C>T						LHX9_ENST00000367391.1_Intron|LHX9_ENST00000367387.4_Silent_p.D338D|LHX9_ENST00000561173.1_Intron|LHX9_ENST00000337020.2_Intron	p.D329D	NM_001014434.1	NP_001014434.1	Q9NQ69	LHX9_HUMAN			6	1014	+			338					Q5VUE2|Q5VUE3|Q5VUE6|Q86UH2|Q9BYU6|Q9NQ70	Silent	SNP	ENST00000367387.4	37	c.987C>T	CCDS1393.1																																																																																				0.547	LHX9-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086547.2	NM_020204		28	48	0	0	0	1	0	28	48					T	197898209	C	T	197898209	2	4	419	1	0	0	0	0	0	0	0	1	8777	535	19	1		1	LHX9	1	197898209	Silent	SNP	C	TCGA-VP-A87J-01A-11D-A34U-08	45705756	197898209	51352412	4	20287											
TMCC2	9911	broad.mit.edu	37	chr1	205238117	205238117	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tggccctgagcctccccgccGgccatggtgacaccgacggc	5	5	13	18	4	0	2	0	2	0	0	1	3	1	2	7	4	1	0	7	4	0	0	rs558421698		TCGA-VP-A87J-01A-11D-A34U-08	TCGA-VP-A87J-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc7970c4-93d3-4646-9de0-8fd9c5d420d8	981257f9-1967-453d-8bd8-723f254f32c6	g.chr1:205238117G>A	ENST00000358024.3	+	3	1176	c.787G>A	c.(787-789)Ggc>Agc	p.G263S	TMCC2_ENST00000329800.7_Missense_Mutation_p.G23S|TMCC2_ENST00000545499.1_Missense_Mutation_p.G185S|TMCC2_ENST00000330675.7_Missense_Mutation_p.G38S|TMCC2_ENST00000495538.1_3'UTR	NM_014858.3	NP_055673.2	O75069	TMCC2_HUMAN	transmembrane and coiled-coil domain family 2	263						integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(3)|pancreas(1)|skin(1)|urinary_tract(1)	20	Breast(84;0.0871)		BRCA - Breast invasive adenocarcinoma(75;0.117)			CCTCCCCGCCGGCCATGGTGA	0.662													G|||	1	0.000199681	0	0	5008	,	,		15181	0		0	False		,,,				2504	0.001					ENST00000358024.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(3)|pancreas(1)|skin(1)|urinary_tract(1)	20						c.(787-789)Ggc>Agc		transmembrane and coiled-coil domain family 2							45	50	48					1																	205238117		2197	4296	6493	SO:0001583	missense	9911					integral to membrane	protein binding	g.chr1:205238117G>A	AB001596	CCDS30984.1, CCDS55676.1, CCDS73010.1	1q32.1	2008-02-05	2005-07-13		ENSG00000133069	ENSG00000133069		"Transmembrane and coiled-coil domain containing"	24239	protein-coding gene	gene with protein product			"transmembrane and coiled-coil domains 2"			9455484	Standard	NM_014858		Approved	HUCEP11, FLJ38497	uc021pia.1	O75069	OTTHUMG00000037195	ENST00000358024.3:c.787G>A	1.37:g.205238117G>A	ENSP00000350718:p.Gly263Ser					TMCC2_ENST00000495538.1_3'UTR|TMCC2_ENST00000330675.7_Missense_Mutation_p.G38S|TMCC2_ENST00000329800.7_Missense_Mutation_p.G23S|TMCC2_ENST00000545499.1_Missense_Mutation_p.G185S	p.G263S	NM_014858.3	NP_055673.2	O75069	TMCC2_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.117)		3	1176	+	Breast(84;0.0871)		263					A2RRH3|B7Z1P7|Q6ZN09	Missense_Mutation	SNP	ENST00000358024.3	37	c.787G>A	CCDS30984.1	.	.	.	.	.	.	.	.	.	.	G	0.010	-1.765502	0.00651	.	.	ENSG00000133069	ENST00000358024;ENST00000545499;ENST00000367159;ENST00000330675;ENST00000329800	T;T;T;T;T	0.62941	1.65;1.68;-0.01;1.07;1.08	5.54	4.63	0.57726	.	0.341271	0.37715	N	0.001964	T	0.26738	0.0654	N	0.01576	-0.805	0.22017	N	0.999411	B;B;B;B	0.22480	0.07;0.013;0.007;0.007	B;B;B;B	0.10450	0.005;0.002;0.002;0.002	T	0.25222	-1.0138	10	0.06757	T	0.87	.	7.2485	0.26135	0.2865:0.0:0.7135:0.0	.	59;23;38;263	Q8IW47;G5E963;B2RAX5;O75069	.;.;.;TMCC2_HUMAN	S	263;185;67;38;23	ENSP00000350718:G263S;ENSP00000437943:G185S;ENSP00000356127:G67S;ENSP00000331842:G38S;ENSP00000329436:G23S	ENSP00000329436:G23S	G	+	1	0	TMCC2	203504740	0.036000	0.19791	0.769000	0.31535	0.022000	0.10575	0.155000	0.16362	1.355000	0.45865	-0.448000	0.05591	GGC		0.662	TMCC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000090383.1	NM_014858		9	74	0	0	0	1	0	9	74					A	205238117	G	A	205238117	3	1	419	1	0	0	0	0	1	0	0	0	15990	1116	39	2	797	2	TMCC2	1	205238117	Missense_Mutation	SNP	G	TCGA-VP-A87J-01A-11D-A34U-08	7339908	205238117	44012504	5	20288											
IL24	11009	broad.mit.edu	37	chr1	207072689	207072689	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttctgccctcctttgctggcGacagcctctcaaatgcagat	7	12	8	14	1	2	1	1	0	2	1	4	2	3	1	3	1	4	2	3	1	1	2			TCGA-VP-A87J-01A-11D-A34U-08	TCGA-VP-A87J-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc7970c4-93d3-4646-9de0-8fd9c5d420d8	981257f9-1967-453d-8bd8-723f254f32c6	g.chr1:207072689G>A	ENST00000294984.2	+	3	343	c.69G>A	c.(67-69)gcG>gcA	p.A23A	IL24_ENST00000391929.3_Silent_p.A24A|IL24_ENST00000367093.3_Silent_p.A24A|IL24_ENST00000491169.1_Intron	NM_001185156.1|NM_006850.3	NP_001172085.1|NP_006841.1	Q13007	IL24_HUMAN	interleukin 24	23					apoptotic process (GO:0006915)|cellular response to interleukin-4 (GO:0071353)|cellular response to lipopolysaccharide (GO:0071222)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|serine phosphorylation of STAT3 protein (GO:0033136)|wound healing (GO:0042060)	endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)				endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	12	Breast(84;0.201)					CTTTGCTGGCGACAGCCTCTC	0.577																																						ENST00000367093.3																			0				endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	12						c.(70-72)gcG>gcA		interleukin 24							52	52	52					1																	207072689		2203	4300	6503	SO:0001819	synonymous_variant	11009				apoptosis	extracellular space	cytokine activity	g.chr1:207072689G>A	U16261	CCDS1471.1, CCDS53465.1, CCDS53466.1, CCDS73021.1	1q32	2011-07-15		2001-06-29	ENSG00000162892	ENSG00000162892		"Interleukins and interleukin receptors"	11346	protein-coding gene	gene with protein product	"melanoma differentiation association protein 7", "suppression of tumorigenicity 16 (melanoma differentiation)", "IL-4-induced secreted protein"	604136		ST16		8545104, 8799171	Standard	NM_001185156		Approved	mda-7, IL10B, Mob-5, C49A, FISP, IL-24	uc001heu.2	Q13007	OTTHUMG00000036459	ENST00000294984.2:c.69G>A	1.37:g.207072689G>A						IL24_ENST00000491169.1_Intron|IL24_ENST00000391929.3_Silent_p.A24A|IL24_ENST00000294984.2_Silent_p.A23A	p.A24A	NM_001185157.1|NM_001185158.1	NP_001172086.1|NP_001172087.1	Q13007	IL24_HUMAN			3	346	+	Breast(84;0.201)		23					Q2YHE5|Q53XZ7|Q5YLN8|Q96DB0|Q96KG4	Silent	SNP	ENST00000294984.2	37	c.72G>A	CCDS1471.1																																																																																				0.577	IL24-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000088680.2	NM_006850		26	33	0	0	0	1	0	26	33					A	207072689	G	A	207072689	2	1	419	1	0	0	0	0	0	0	0	1	7677	1045	37	2		2	IL24	1	207072689	Silent	SNP	G	TCGA-VP-A87J-01A-11D-A34U-08	1834572	207072689	42177932	6	20289											
FAM84A	151354	broad.mit.edu	37	chr2	14774315	14774315	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccggagagccccagccgccAccaccaccacctgctgcacc	8	2	8	23	2	0	1	0	0	0	1	0	2	0	1	10	1	4	2	10	1	0	0			TCGA-VP-A87J-01A-11D-A34U-08	TCGA-VP-A87J-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc7970c4-93d3-4646-9de0-8fd9c5d420d8	981257f9-1967-453d-8bd8-723f254f32c6	g.chr2:14774315A>G	ENST00000295092.2	+	2	500	c.212A>G	c.(211-213)cAc>cGc	p.H71R	FAM84A_ENST00000331243.4_Missense_Mutation_p.H71R|AC011897.1_ENST00000581929.1_5'Flank	NM_145175.2	NP_660158.2	Q96KN4	FA84A_HUMAN	family with sequence similarity 84, member A	71	Poly-His.									endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|upper_aerodigestive_tract(1)	10	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.197)		GBM - Glioblastoma multiforme(1;0.00969)			CCCAGCCGCCACCACCACCAC	0.642																																						ENST00000295092.2																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|upper_aerodigestive_tract(1)	10						c.(211-213)cAc>cGc		family with sequence similarity 84, member A							18	21	20					2																	14774315		2200	4294	6494	SO:0001583	missense	151354							g.chr2:14774315A>G	AJ417080, BC026346	CCDS1684.1	2p24.3	2005-08-09			ENSG00000162981	ENSG00000162981			20743	protein-coding gene	gene with protein product	"neurological/sensory 1"	611234				14702039	Standard	NM_145175		Approved	NSE1, FLJ35392	uc002rbz.2	Q96KN4	OTTHUMG00000119093	ENST00000295092.2:c.212A>G	2.37:g.14774315A>G	ENSP00000295092:p.His71Arg					FAM84A_ENST00000331243.4_Missense_Mutation_p.H71R	p.H71R	NM_145175.2	NP_660158.2	Q96KN4	FA84A_HUMAN	GBM - Glioblastoma multiforme(1;0.00969)		2	500	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.197)		71			Poly-His.		A6NP76|Q86UZ2|Q8NAH7|Q8TAM5	Missense_Mutation	SNP	ENST00000295092.2	37	c.212A>G	CCDS1684.1	.	.	.	.	.	.	.	.	.	.	A	10.69	1.421018	0.25639	.	.	ENSG00000162981	ENST00000295092;ENST00000331243;ENST00000359969	T;T	0.06371	3.31;3.31	4.96	2.52	0.30459	.	0.239335	0.41823	D	0.000809	T	0.03136	0.0092	N	0.08118	0	0.30318	N	0.787892	B	0.02656	0.0	B	0.01281	0.0	T	0.36114	-0.9761	10	0.21540	T	0.41	-14.4203	8.8817	0.35378	0.8437:0.0:0.1563:0.0	.	71	Q96KN4	FA84A_HUMAN	R	71	ENSP00000295092:H71R;ENSP00000330681:H71R	ENSP00000295092:H71R	H	+	2	0	FAM84A	14691766	0.888000	0.30383	1.000000	0.80357	0.990000	0.78478	0.047000	0.14056	0.297000	0.22615	0.533000	0.62120	CAC		0.642	FAM84A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239308.2	NM_145175		3	11	0	0	0	1	0	3	11					G	14774315	A	G	14774315	3	3	419	1	0	0	0	0	1	0	0	0	5641	159	6	4	214	4	FAM84A	2	14774315	Missense_Mutation	SNP	A	TCGA-VP-A87J-01A-11D-A34U-08		14774315	228425058	7	20290											
TTN	7273	broad.mit.edu	37	chr2	179476287	179476287	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagtgcctactggacacattTcaacatggtatcctatgata	12	12	7	10	0	1	1	1	1	0	0	2	2	2	2	2	2	3	1	2	2	5	5			TCGA-VP-A87J-01A-11D-A34U-08	TCGA-VP-A87J-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc7970c4-93d3-4646-9de0-8fd9c5d420d8	981257f9-1967-453d-8bd8-723f254f32c6	g.chr2:179476287T>G	ENST00000591111.1	-	219	45970	c.45746A>C	c.(45745-45747)gAa>gCa	p.E15249A	TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E14322A|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E8017A|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.E16890A|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E7950A|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E7825A|TTN-AS1_ENST00000592630.1_RNA			Q8WZ42	TITIN_HUMAN	titin	15249	Fibronectin type-III 11. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGGACACATTTCAACATGGTA	0.423																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(50668-50670)gAa>gCa		titin							110	104	106					2																	179476287		1895	4123	6018	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179476287T>G	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.45746A>C	2.37:g.179476287T>G	ENSP00000465570:p.Glu15249Ala					TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E7950A|TTN_ENST00000460472.2_Missense_Mutation_p.E7825A|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E14322A|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E8017A|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.E15249A	p.E16890A	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		269	50893	-			15249			Fibronectin type-III 22.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.50669A>C		.	.	.	.	.	.	.	.	.	.	T	13.55	2.269375	0.40095	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.58506	0.33;0.33;0.33;0.33	5.95	5.95	0.96441	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.83940	0.5363	H	0.96269	3.795	0.80722	D	1	D;D;D;D	0.76494	0.999;0.999;0.999;0.999	D;D;D;D	0.85130	0.997;0.997;0.997;0.997	D	0.89081	0.3476	9	0.87932	D	0	.	16.4237	0.83790	0.0:0.0:0.0:1.0	.	7825;7950;8017;15249	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	A	14322;7825;8017;7950;7825	ENSP00000343764:E14322A;ENSP00000434586:E7825A;ENSP00000340554:E8017A;ENSP00000352154:E7950A	ENSP00000340554:E8017A	E	-	2	0	TTN	179184532	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.991000	0.88244	2.279000	0.76181	0.533000	0.62120	GAA		0.423	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		53	78	0	0	0	1	0	53	78					G	179476287	T	G	179476287	3	3	419	1	0	0	0	0	1	0	0	0	16732	1783	62	5	57400	5	TTN	2	179476287	Missense_Mutation	SNP	T	TCGA-VP-A87J-01A-11D-A34U-08	164701972	179476287	63723086	8	20291											
BMP2K	55589	broad.mit.edu	37	chr4	79792085	79792085	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagcatcgtcatcctcaccaGcagcagcagcagcagcagca	12	4	9	16	1	2	0	2	0	0	0	4	0	3	0	2	0	8	8	2	0	0	0	rs376418550	byFrequency	TCGA-VP-A87J-01A-11D-A34U-08	TCGA-VP-A87J-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc7970c4-93d3-4646-9de0-8fd9c5d420d8	981257f9-1967-453d-8bd8-723f254f32c6	g.chr4:79792085G>C	ENST00000335016.5	+	11	1546	c.1380G>C	c.(1378-1380)caG>caC	p.Q460H	BMP2K_ENST00000502871.1_Missense_Mutation_p.Q460H	NM_198892.1	NP_942595.1	Q9NSY1	BMP2K_HUMAN	BMP2 inducible kinase	460	Gln/His-rich.				regulation of bone mineralization (GO:0030500)	nucleus (GO:0005634)	ATP binding (GO:0005524)|phosphatase regulator activity (GO:0019208)|protein serine/threonine kinase activity (GO:0004674)	p.Q460H(3)		NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	13						ATCCTCACcagcagcagcagc	0.577																																						ENST00000335016.5																			3	Substitution - Missense(3)	p.Q460H(3)	endometrium(2)|prostate(1)	NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	13						c.(1378-1380)caG>caC		BMP2 inducible kinase							40	45	44					4																	79792085		2203	4300	6503	SO:0001583	missense	55589					nucleus	ATP binding|protein serine/threonine kinase activity	g.chr4:79792085G>C	AB015331	CCDS34019.1, CCDS47083.1	4q21.21	2008-05-15			ENSG00000138756	ENSG00000138756			18041	protein-coding gene	gene with protein product							Standard	NM_017593		Approved	DKFZp434K0614, BIKe	uc003hlk.3	Q9NSY1	OTTHUMG00000160900	ENST00000335016.5:c.1380G>C	4.37:g.79792085G>C	ENSP00000334836:p.Gln460His					BMP2K_ENST00000502871.1_Missense_Mutation_p.Q460H	p.Q460H	NM_198892.1	NP_942595.1	Q9NSY1	BMP2K_HUMAN			11	1546	+			460			Gln/His-rich.		O94791|Q4W5H2|Q8IYF2|Q8N2G7|Q8NHG9|Q9NTG8	Missense_Mutation	SNP	ENST00000335016.5	37	c.1380G>C	CCDS47083.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	8.089|8.089	0.774118|0.774118	0.16051|0.16051	.|.	.|.	ENSG00000138756|ENSG00000138756	ENST00000502613|ENST00000502871;ENST00000335016;ENST00000264889	.|T;T	.|0.74002	.|0.79;-0.8	5.12|5.12	2.26|2.26	0.28386|0.28386	.|.	.|1.238260	.|0.06146	.|N	.|0.673324	T|T	0.57504|0.57504	0.2058|0.2058	N|N	0.15975|0.15975	0.35|0.35	0.30181|0.30181	N|N	0.800383|0.800383	.|B;B	.|0.06786	.|0.001;0.0	.|B;B	.|0.04013	.|0.001;0.001	T|T	0.51803|0.51803	-0.8659|-0.8659	5|10	.|0.42905	.|T	.|0.14	0.0809|0.0809	5.9141|5.9141	0.19045|0.19045	0.0722:0.2493:0.5501:0.1284|0.0722:0.2493:0.5501:0.1284	.|.	.|460;460	.|Q9NSY1;Q4W5H2	.|BMP2K_HUMAN;.	P|H	153|460;460;474	.|ENSP00000421768:Q460H;ENSP00000334836:Q460H	.|ENSP00000264889:Q474H	A|Q	+|+	1|3	0|2	BMP2K|BMP2K	80011109|80011109	0.996000|0.996000	0.38824|0.38824	0.995000|0.995000	0.50966|0.50966	0.181000|0.181000	0.23173|0.23173	0.092000|0.092000	0.15066|0.15066	0.524000|0.524000	0.28502|0.28502	0.460000|0.460000	0.39030|0.39030	GCA|CAG		0.577	BMP2K-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_017593		3	28	0	0	0	1	0	3	28					C	79792085	G	C	79792085	3	2	419	1	0	0	0	0	1	0	0	0	1460	962	34	5	1422	5	BMP2K	4	79792085	Missense_Mutation	SNP	G	TCGA-VP-A87J-01A-11D-A34U-08		79792085	111362191	9	20292											
EIF4E	1977	broad.mit.edu	37	chr4	99823091	99823091	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcctgattagattccgtttTctcctcttctgtagtcgggg	4	17	9	11	2	3	2	0	1	3	1	7	2	5	2	3	2	0	2	3	2	2	6			TCGA-VP-A87J-01A-11D-A34U-08	TCGA-VP-A87J-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc7970c4-93d3-4646-9de0-8fd9c5d420d8	981257f9-1967-453d-8bd8-723f254f32c6	g.chr4:99823091T>G	ENST00000450253.2	-	2	1585	c.61A>C	c.(61-63)Aaa>Caa	p.K21Q	EIF4E_ENST00000280892.6_Missense_Mutation_p.K41Q|EIF4E_ENST00000504432.1_Missense_Mutation_p.K49Q|EIF4E_ENST00000505992.1_Missense_Mutation_p.K21Q|EIF4E_ENST00000504472.1_5'UTR	NM_001968.3	NP_001959.1	P06730	IF4E_HUMAN	eukaryotic translation initiation factor 4E	21					cellular protein metabolic process (GO:0044267)|cytokine-mediated signaling pathway (GO:0019221)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|insulin receptor signaling pathway (GO:0008286)|lung development (GO:0030324)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of mitotic cell cycle (GO:0045931)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational initiation (GO:0006413)|viral process (GO:0016032)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)|extracellular vesicular exosome (GO:0070062)|mRNA cap binding complex (GO:0005845)|RISC complex (GO:0016442)	poly(A) RNA binding (GO:0044822)|RNA cap binding (GO:0000339)|translation initiation factor activity (GO:0003743)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)	13				OV - Ovarian serous cystadenocarcinoma(123;2.7e-07)|LUSC - Lung squamous cell carcinoma(721;0.00227)		GATTCCGTTTTCTCCTCTTCT	0.388																																						ENST00000450253.2																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)	13						c.(61-63)Aaa>Caa		eukaryotic translation initiation factor 4E							153	155	154					4																	99823091		2203	4299	6502	SO:0001583	missense	1977				G1/S transition of mitotic cell cycle|insulin receptor signaling pathway|interspecies interaction between organisms|mRNA export from nucleus|nuclear-transcribed mRNA poly(A) tail shortening|positive regulation of mitotic cell cycle|regulation of translation	cytoplasmic mRNA processing body|cytosol|eukaryotic translation initiation factor 4F complex|mRNA cap binding complex|RNA-induced silencing complex	protein binding|RNA cap binding|translation initiation factor activity	g.chr4:99823091T>G	M15353	CCDS34031.1, CCDS47109.1, CCDS54779.1	4q21-q25	2008-02-05			ENSG00000151247	ENSG00000151247			3287	protein-coding gene	gene with protein product		133440		EIF4EL1, EIF4F		9330633, 1916814	Standard	NM_001968		Approved	EIF4E1	uc011cea.1	P06730	OTTHUMG00000161090	ENST00000450253.2:c.61A>C	4.37:g.99823091T>G	ENSP00000389624:p.Lys21Gln					EIF4E_ENST00000505992.1_Missense_Mutation_p.K21Q|EIF4E_ENST00000504472.1_5'UTR|EIF4E_ENST00000280892.6_Missense_Mutation_p.K41Q|EIF4E_ENST00000504432.1_Missense_Mutation_p.K49Q	p.K21Q	NM_001968.3	NP_001959.1	P06730	IF4E_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;2.7e-07)|LUSC - Lung squamous cell carcinoma(721;0.00227)	2	1585	-			21					B7Z6V1|D6RCQ6|Q96E95	Missense_Mutation	SNP	ENST00000450253.2	37	c.61A>C	CCDS34031.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	17.05|17.05	3.288715|3.288715	0.59976|0.59976	.|.	.|.	ENSG00000151247|ENSG00000151247	ENST00000511644|ENST00000450253;ENST00000280892;ENST00000504432;ENST00000505992	T|T;T;T;T	0.40476|0.45668	1.03|0.95;0.95;0.95;0.89	5.85|5.85	5.85|5.85	0.93711|0.93711	.|Translation Initiation factor eIF- 4e-like  domain (2);	.|0.362363	.|0.32218	.|N	.|0.006410	T|T	0.44498|0.44498	0.1296|0.1296	N|N	0.08118|0.08118	0|0	0.48696|0.48696	D|D	0.999693|0.999693	.|B;D;P;B	.|0.67145	.|0.445;0.996;0.703;0.204	.|P;D;P;B	.|0.77557	.|0.784;0.99;0.845;0.397	T|T	0.48969|0.48969	-0.8987|-0.8987	7|10	0.30854|0.30078	T|T	0.27|0.28	-28.2524|-28.2524	16.204|16.204	0.82108|0.82108	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|21;21;41;21	.|B7Z2T1;P06730-2;B7Z6V1;P06730	.|.;.;.;IF4E_HUMAN	A|Q	17|21;41;49;21	ENSP00000421287:E17A|ENSP00000389624:K21Q;ENSP00000280892:K41Q;ENSP00000423977:K49Q;ENSP00000425561:K21Q	ENSP00000421287:E17A|ENSP00000280892:K41Q	E|K	-|-	2|1	0|0	EIF4E|EIF4E	100042114|100042114	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.949000|0.949000	0.60115|0.60115	5.330000|5.330000	0.65899|0.65899	2.363000|2.363000	0.80096|0.80096	0.523000|0.523000	0.50628|0.50628	GAA|AAA		0.388	EIF4E-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000363739.1	NM_001968		55	90	0	0	0	1	0	55	90					G	99823091	T	G	99823091	3	3	419	1	0	0	0	0	1	0	0	0	5028	1792	62	5	713	5	EIF4E	4	99823091	Missense_Mutation	SNP	T	TCGA-VP-A87J-01A-11D-A34U-08	20031006	99823091	91331185	10	20293											
HSPB3	8988	broad.mit.edu	37	chr5	53751722	53751722	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gcaggctggatcatgctttaTatgcactgcctgggccaacc	8	10	11	12	0	1	0	1	0	0	0	1	1	1	1	3	3	4	4	3	3	3	3			TCGA-VP-A87J-01A-11D-A34U-08	TCGA-VP-A87J-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc7970c4-93d3-4646-9de0-8fd9c5d420d8	981257f9-1967-453d-8bd8-723f254f32c6	g.chr5:53751722T>C	ENST00000302005.1	+	1	278	c.103T>C	c.(103-105)Tat>Cat	p.Y35H		NM_006308.2	NP_006299.1	Q12988	HSPB3_HUMAN	heat shock 27kDa protein 3	35					cell death (GO:0008219)|response to unfolded protein (GO:0006986)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(1)|large_intestine(4)|prostate(3)	8		Lung NSC(810;0.00104)				TCATGCTTTATATGCACTGCC	0.542																																						ENST00000302005.1																			0				breast(1)|large_intestine(4)|prostate(3)	8						c.(103-105)Tat>Cat		heat shock 27kDa protein 3							78	77	77					5																	53751722		2203	4300	6503	SO:0001583	missense	8988				cell death|response to heat|response to unfolded protein	cytoplasm|nucleus		g.chr5:53751722T>C	Y17782	CCDS3961.1	5q11.2	2011-09-02	2002-08-29		ENSG00000169271	ENSG00000169271		"Heat shock proteins / HSPB"	5248	protein-coding gene	gene with protein product		604624	"heat shock 27kD protein 3"			8972725, 9858786	Standard	NM_006308		Approved	HSPL27	uc003jph.2	Q12988	OTTHUMG00000096995	ENST00000302005.1:c.103T>C	5.37:g.53751722T>C	ENSP00000303394:p.Tyr35His						p.Y35H	NM_006308.2	NP_006299.1	Q12988	HSPB3_HUMAN			1	278	+		Lung NSC(810;0.00104)	35						Missense_Mutation	SNP	ENST00000302005.1	37	c.103T>C	CCDS3961.1	.	.	.	.	.	.	.	.	.	.	T	19.08	3.757964	0.69648	.	.	ENSG00000169271	ENST00000302005	D	0.91351	-2.83	6.03	6.03	0.97812	.	0.078427	0.51477	D	0.000087	D	0.94706	0.8292	M	0.73962	2.25	0.41532	D	0.988461	D	0.89917	1.0	D	0.72075	0.976	D	0.93705	0.7019	10	0.30854	T	0.27	-44.4107	16.5655	0.84588	0.0:0.0:0.0:1.0	.	35	Q12988	HSPB3_HUMAN	H	35	ENSP00000303394:Y35H	ENSP00000303394:Y35H	Y	+	1	0	HSPB3	53787479	1.000000	0.71417	0.364000	0.25888	0.404000	0.30871	6.282000	0.72639	2.302000	0.77476	0.533000	0.62120	TAT		0.542	HSPB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214074.2			29	65	0	0	0	1	0	29	65					C	53751722	T	C	53751722	3	2	419	1	0	0	0	0	1	0	0	0	7421	1406	49	4	105	4	HSPB3	5	53751722	Missense_Mutation	SNP	T	TCGA-VP-A87J-01A-11D-A34U-08		53751722	127163538	11	20294											
ATG9B	285973	broad.mit.edu	37	chr7	150721397	150721399	+	In_Frame_Del	DEL	AGG	AGG	-																															cccccaggtccccggcatgaAggaggaggaggaggtggcag																										TCGA-VP-A87J-01A-11D-A34U-08	TCGA-VP-A87J-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc7970c4-93d3-4646-9de0-8fd9c5d420d8	981257f9-1967-453d-8bd8-723f254f32c6	g.chr7:150721397_150721399delAGG	ENST00000377974.2	-	1	187_189	c.112_114delCCT	c.(112-114)cctdel	p.P38del	ATG9B_ENST00000605938.1_In_Frame_Del_p.P38del|ATG9B_ENST00000605952.1_In_Frame_Del_p.P38del|ATG9B_ENST00000444312.1_5'UTR|ATG9B_ENST00000494791.1_5'UTR			Q674R7	ATG9B_HUMAN	autophagy related 9B	38	Pro-rich.				autophagic vacuole assembly (GO:0000045)	autophagic vacuole (GO:0005776)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)				cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|ovary(4)|prostate(1)	14	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CCCGGCATGAAGGAGGAGGAGGA	0.665																																						ENST00000605938.1																			0				cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|ovary(4)|prostate(1)	14						c.(112-114)del		autophagy related 9B				63,3541		12,39,1751						1.2	0.7			11	126,7612		20,86,3763	no	coding	ATG9B	NM_173681.5		32,125,5514	A1A1,A1R,RR		1.6283,1.7481,1.6664				189,11153				SO:0001651	inframe_deletion	285973				autophagic vacuole assembly	autophagic vacuole membrane|cytoplasmic vesicle|integral to membrane		g.chr7:150721397_150721399delAGG	AK027791		7q36	2014-02-12	2012-06-06	2005-09-11	ENSG00000181652	ENSG00000181652			21899	protein-coding gene	gene with protein product		612205	"nitric oxide synthase 3 antisense", "ATG9 autophagy related 9 homolog B (S. cerevisiae)"	NOS3AS		15234981, 15755735	Standard	NM_173681		Approved	FLJ14885, APG9L2, SONE	uc011kvc.2	Q674R7	OTTHUMG00000158634	ENST00000377974.2:c.112_114delCCT	7.37:g.150721406_150721408delAGG	ENSP00000475005:p.Pro38del					ATG9B_ENST00000444312.1_5'UTR|ATG9B_ENST00000605952.1_In_Frame_Del_p.P38del|ATG9B_ENST00000494791.1_5'UTR|ATG9B_ENST00000377974.2_In_Frame_Del_p.P38del	p.P38del	NM_173681.5	NP_775952.4	Q674R7	ATG9B_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	1	187_189	-	all_neural(206;0.219)		38			Pro-rich.		A1A5D3|Q6JRW5|Q8N8I8	In_Frame_Del	DEL	ENST00000377974.2	37	c.112_114delCCT																																																																																					0.665	ATG9B-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_173681		5	3						5	3	---	---	---	---	-	150721399	AGG	-	150721397	7	5	419	1	0	1	0	1	0	0	0	0	1103	59	3	0	2711	0	ATG9B	7	150721397	In_Frame_Del	DEL	AGG	TCGA-VP-A87J-01A-11D-A34U-08		150721397	8417266	12	20295											
ZFAT	57623	broad.mit.edu	37	chr8	135614923	135614923	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cttgatcttcttgtgcactcGctcgatgtgcaccttgaggt	5	15	10	11	2	2	2	0	2	2	0	4	3	2	2	1	1	2	3	1	1	0	4			TCGA-VP-A87J-01A-11D-A34U-08	TCGA-VP-A87J-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc7970c4-93d3-4646-9de0-8fd9c5d420d8	981257f9-1967-453d-8bd8-723f254f32c6	g.chr8:135614923G>A	ENST00000377838.3	-	6	1213	c.1039C>T	c.(1039-1041)Cga>Tga	p.R347*	ZFAT_ENST00000520727.1_Nonsense_Mutation_p.R335*|ZFAT-AS1_ENST00000505776.1_RNA|ZFAT_ENST00000429442.2_Nonsense_Mutation_p.R335*|ZFAT_ENST00000520214.1_Nonsense_Mutation_p.R335*|ZFAT_ENST00000520356.1_Nonsense_Mutation_p.R335*|ZFAT_ENST00000523399.1_Nonsense_Mutation_p.R285*	NM_001174157.1|NM_020863.3	NP_001167628.1|NP_065914.2	Q9P243	ZFAT_HUMAN	zinc finger and AT hook domain containing	347					hematopoietic progenitor cell differentiation (GO:0002244)|spongiotrophoblast layer development (GO:0060712)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(9)|large_intestine(8)|lung(16)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0432)			TTGTGCACTCGCTCGATGTGC	0.552																																						ENST00000520727.1																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(9)|large_intestine(8)|lung(16)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	54						c.(1003-1005)Cga>Tga		zinc finger and AT hook domain containing							72	74	73					8																	135614923		2122	4242	6364	SO:0001587	stop_gained	57623				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	DNA binding|zinc ion binding	g.chr8:135614923G>A	BC025423	CCDS43768.1, CCDS47924.1, CCDS43768.2, CCDS55275.1, CCDS55276.1	8q24.23	2008-06-05	2008-01-25	2008-01-25	ENSG00000066827	ENSG00000066827		"Zinc fingers, C2H2-type"	19899	protein-coding gene	gene with protein product		610931	"zinc finger protein 406"	ZNF406, ZFAT1		10819331, 18329245	Standard	NM_020863		Approved	KIAA1485	uc003yup.3	Q9P243	OTTHUMG00000164321	ENST00000377838.3:c.1039C>T	8.37:g.135614923G>A	ENSP00000367069:p.Arg347*					ZFAT_ENST00000377838.3_Nonsense_Mutation_p.R347*|ZFAT_ENST00000523399.1_Nonsense_Mutation_p.R285*|ZFAT_ENST00000520356.1_Nonsense_Mutation_p.R335*|ZFAT_ENST00000520214.1_Nonsense_Mutation_p.R335*|ZFAT_ENST00000429442.2_Nonsense_Mutation_p.R335*	p.R335*	NM_001029939.3	NP_001025110.2	Q9P243	ZFAT_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0432)		7	1302	-	all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155)		347					B7ZL15|E9PER3|Q3MIM5|Q6PJ01|Q75PJ6|Q75PJ7|Q75PJ9|Q86X64	Nonsense_Mutation	SNP	ENST00000377838.3	37	c.1003C>T	CCDS47924.1	.	.	.	.	.	.	.	.	.	.	G	38	6.699364	0.97772	.	.	ENSG00000066827	ENST00000520356;ENST00000520727;ENST00000429442;ENST00000377838;ENST00000520214;ENST00000318135;ENST00000523399;ENST00000398946	.	.	.	5.9	5.9	0.94986	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-28.6255	14.7111	0.69232	0.0:0.0:0.8463:0.1537	.	.	.	.	X	335;335;335;347;335;335;285;335	.	ENSP00000326997:R335X	R	-	1	2	ZFAT	135684105	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	3.528000	0.53524	2.793000	0.96121	0.563000	0.77884	CGA		0.552	ZFAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378272.1	NM_001029939		18	27	0	0	0	1	0	18	27					A	135614923	G	A	135614923	4	1	419	1	0	0	0	0	0	1	0	0	17629	1095	38	1	2736	1	ZFAT	8	135614923	Nonsense_Mutation	SNP	G	TCGA-VP-A87J-01A-11D-A34U-08		135614923	10749099	13	20296											
UBAP2	55833	broad.mit.edu	37	chr9	33943522	33943522	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tctgacccaaattccagagcCccaaactgcacatttaatcc	13	9	4	15	0	1	2	0	1	1	1	3	2	3	2	5	0	3	1	5	0	3	3			TCGA-VP-A87J-01A-11D-A34U-08	TCGA-VP-A87J-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc7970c4-93d3-4646-9de0-8fd9c5d420d8	981257f9-1967-453d-8bd8-723f254f32c6	g.chr9:33943522C>A	ENST00000379238.1	-	15	1728	c.1611G>T	c.(1609-1611)ggG>ggT	p.G537G	UBAP2_ENST00000449054.1_Silent_p.G537G|UBAP2_ENST00000360802.1_Silent_p.G537G|UBAP2_ENST00000379225.1_Silent_p.G170G|UBAP2_ENST00000379239.4_Silent_p.G270G|UBAP2_ENST00000539807.1_Silent_p.G292G|UBAP2_ENST00000418786.2_Silent_p.G484G					ubiquitin associated protein 2											endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(13)|ovary(3)|stomach(1)	32			LUSC - Lung squamous cell carcinoma(29;0.00575)	GBM - Glioblastoma multiforme(74;0.168)		ATTCCAGAGCCCCAAACTGCA	0.453																																						ENST00000379238.1																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(13)|ovary(3)|stomach(1)	32						c.(1609-1611)ggG>ggT		ubiquitin associated protein 2							91	87	88					9																	33943522		2203	4300	6503	SO:0001819	synonymous_variant	55833							g.chr9:33943522C>A	AB040924	CCDS6547.1, CCDS75828.1	9p11.2	2008-02-05			ENSG00000137073	ENSG00000137073			14185	protein-coding gene	gene with protein product						8871400	Standard	NM_018449		Approved	KIAA1491, bA176F3.5, FLJ22435	uc003ztq.1	Q5T6F2	OTTHUMG00000000427	ENST00000379238.1:c.1611G>T	9.37:g.33943522C>A						UBAP2_ENST00000360802.1_Silent_p.G537G|UBAP2_ENST00000379239.4_Silent_p.G270G|UBAP2_ENST00000379225.1_Silent_p.G170G|UBAP2_ENST00000539807.1_Silent_p.G292G|UBAP2_ENST00000449054.1_Silent_p.G537G|UBAP2_ENST00000418786.2_Silent_p.G484G	p.G537G			Q5T6F2	UBAP2_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.00575)	GBM - Glioblastoma multiforme(74;0.168)	15	1728	-			537						Silent	SNP	ENST00000379238.1	37	c.1611G>T	CCDS6547.1																																																																																				0.453	UBAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001071.1	NM_018449		29	57	1	0	2.61193e-14	1	2.96019e-14	29	57					A	33943522	C	A	33943522	2	1	419	1	0	0	0	0	0	0	0	1	16834	610	22	5		5	UBAP2	9	33943522	Silent	SNP	C	TCGA-VP-A87J-01A-11D-A34U-08		33943522	107269909	14	20297											
DNAJC25	548645	broad.mit.edu	37	chr9	114412196	114412196	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agagctctggatcaaggagaAttatgaggtgagtagtcacc	13	9	13	6	0	3	4	2	2	1	2	3	6	3	5	1	3	1	2	1	3	4	2			TCGA-VP-A87J-01A-11D-A34U-08	TCGA-VP-A87J-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc7970c4-93d3-4646-9de0-8fd9c5d420d8	981257f9-1967-453d-8bd8-723f254f32c6	g.chr9:114412196A>G	ENST00000313525.3	+	3	1009	c.953A>G	c.(952-954)aAt>aGt	p.N318S	DNAJC25_ENST00000556107.1_Intron|DNAJC25-GNG10_ENST00000374294.3_Intron	NM_001015882.2	NP_001015882.2	Q9H1X3	DJC25_HUMAN	DnaJ (Hsp40) homolog, subfamily C , member 25	318						integral component of membrane (GO:0016021)				kidney(1)|large_intestine(2)|lung(1)|skin(4)	8						ATCAAGGAGAATTATGAGGTG	0.373																																						ENST00000313525.3																			0				kidney(1)|large_intestine(2)|lung(1)|skin(4)	8						c.(952-954)aAt>aGt		DnaJ (Hsp40) homolog, subfamily C , member 25							26	26	26					9																	114412196		1853	4084	5937	SO:0001583	missense	548645				protein folding	integral to membrane	heat shock protein binding|unfolded protein binding	g.chr9:114412196A>G		CCDS43862.1	9q31.3	2011-09-02			ENSG00000059769	ENSG00000059769		"Heat shock proteins / DNAJ (HSP40)"	34187	protein-coding gene	gene with protein product							Standard	NM_001015882		Approved	bA16L21.2.1	uc004bfl.3	Q9H1X3	OTTHUMG00000020491	ENST00000313525.3:c.953A>G	9.37:g.114412196A>G	ENSP00000320650:p.Asn318Ser					DNAJC25_ENST00000556107.1_Intron|DNAJC25-GNG10_ENST00000374294.3_Intron	p.N318S	NM_001015882.2	NP_001015882.2	Q9H1X3	DJC25_HUMAN			3	1009	+			318					Q5QTD8|Q96BN9	Missense_Mutation	SNP	ENST00000313525.3	37	c.953A>G	CCDS43862.1	.	.	.	.	.	.	.	.	.	.	A	20.8	4.056971	0.76074	.	.	ENSG00000059769	ENST00000313525	T	0.52754	0.65	5.78	5.78	0.91487	.	0.090497	0.85682	D	0.000000	T	0.54631	0.1870	M	0.87180	2.865	0.80722	D	1	P	0.43094	0.799	B	0.37650	0.255	T	0.65841	-0.6070	10	0.72032	D	0.01	-2.2579	14.6857	0.69047	1.0:0.0:0.0:0.0	.	318	Q9H1X3	DJC25_HUMAN	S	318	ENSP00000320650:N318S	ENSP00000320650:N318S	N	+	2	0	DNAJC25	113452017	1.000000	0.71417	0.982000	0.44146	0.967000	0.64934	7.093000	0.76937	2.200000	0.70718	0.460000	0.39030	AAT		0.373	DNAJC25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000156218.3	NM_001015882		14	13	0	0	0	1	0	14	13					G	114412196	A	G	114412196	3	3	419	1	0	0	0	0	1	0	0	0	4643	101	4	4	963	4	DNAJC25	9	114412196	Missense_Mutation	SNP	A	TCGA-VP-A87J-01A-11D-A34U-08	80468674	114412196	26801235	15	20298											
C9orf86	55684	broad.mit.edu	37	chr9	139733731	139733732	+	Frame_Shift_Ins	INS	-	-	C																															ctcccacgaggaccgcagcaINScccccctggccaggcggtgt																										TCGA-VP-A87J-01A-11D-A34U-08	TCGA-VP-A87J-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc7970c4-93d3-4646-9de0-8fd9c5d420d8	981257f9-1967-453d-8bd8-723f254f32c6	g.chr9:139733731_139733732insC	ENST00000311502.7	+	12	1787_1788	c.1551_1552insC	c.(1552-1554)cccfs	p.P518fs	RABL6_ENST00000432842.2_Intron|RABL6_ENST00000371675.3_Frame_Shift_Ins_p.P403fs|RABL6_ENST00000371663.4_Frame_Shift_Ins_p.P519fs|RABL6_ENST00000357466.2_Intron			Q3YEC7	RABL6_HUMAN	RAB, member RAS oncogene family-like 6	518					small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	GTP binding (GO:0005525)										GGACCGCAGCACCCCCCTGGCC	0.668																																						ENST00000371675.3																			0											c.(1204-1209)gcccccfs		RAB, member RAS oncogene family-like 6																																				SO:0001589	frameshift_variant	55684							g.chr9:139733731_139733732insC	AK094382	CCDS48058.1, CCDS55352.1, CCDS55353.1	9q34.3	2012-06-28	2012-06-28	2012-06-28	ENSG00000196642	ENSG00000196642			24703	protein-coding gene	gene with protein product	"Rab-like protein 1", "partner of ARF"	610615	"chromosome 9 open reading frame 86"	C9orf86		14702039, 16582619, 17962191, 19433581	Standard	NM_024718		Approved	FLJ10101, FLJ13045, pp8875, bA216L13.9, Parf, RBEL1	uc004cjj.1	Q3YEC7	OTTHUMG00000020947	ENST00000311502.7:c.1557dupC	9.37:g.139733737_139733737dupC	ENSP00000311134:p.Pro518fs					RABL6_ENST00000371663.4_Frame_Shift_Ins_p.AP518fs|RABL6_ENST00000432842.2_Intron|RABL6_ENST00000311502.7_Frame_Shift_Ins_p.AP517fs|RABL6_ENST00000357466.2_Intron	p.AP402fs							12	2091_2092	+								A8QVZ7|A8QVZ8|C6K8I4|C6K8I5|Q4F968|Q5T5R7|Q8IWK1|Q8TCL4|Q8WU94|Q96SR8|Q9BU21|Q9H935	Frame_Shift_Ins	INS	ENST00000311502.7	37	c.1206_1207insC	CCDS48058.1																																																																																				0.668	RABL6-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000055141.4	NM_024718		4	5						4	5	---	---	---	---	C	139733732	-	C	139733731	7	5	419	1	0	1	1	0	0	0	0	0	2502	146	6	0	1844	0	C9orf86	9	139733731	Frame_Shift_Ins	INS	-	TCGA-VP-A87J-01A-11D-A34U-08	25321535	139733731	1479700	16	20299											
DHDPSL	112817	broad.mit.edu	37	chr10	99358577	99358577	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgagtttcctttcctgaccaGcagtgagcgcctcgaggtgg	6	10	13	12	3	0	2	0	2	0	0	3	4	2	2	4	2	2	2	4	2	0	2			TCGA-VP-A87J-01A-11D-A34U-08	TCGA-VP-A87J-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc7970c4-93d3-4646-9de0-8fd9c5d420d8	981257f9-1967-453d-8bd8-723f254f32c6	g.chr10:99358577G>T	ENST00000370646.4	+	2	618	c.257G>T	c.(256-258)aGc>aTc	p.S86I	HOGA1_ENST00000370647.4_Intron|PI4K2A_ENST00000370649.3_Intron|PI4K2A_ENST00000555577.1_Intron	NM_138413.3	NP_612422.2	Q86XE5	HOGA1_HUMAN	4-hydroxy-2-oxoglutarate aldolase 1	86					4-hydroxyproline catabolic process (GO:0019470)|glyoxylate catabolic process (GO:0009436)|glyoxylate metabolic process (GO:0046487)|oxalate metabolic process (GO:0033609)|pyruvate biosynthetic process (GO:0042866)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	4-hydroxy-2-oxoglutarate aldolase activity (GO:0008700)|protein homodimerization activity (GO:0042803)			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|prostate(2)|skin(1)|stomach(1)	14						TTCCTGACCAGCAGTGAGCGC	0.597																																						ENST00000370646.4																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|prostate(2)|skin(1)|stomach(1)	14						c.(256-258)aGc>aTc		4-hydroxy-2-oxoglutarate aldolase 1							163	145	151					10																	99358577		2203	4300	6503	SO:0001583	missense	112817							g.chr10:99358577G>T	BC011916	CCDS7467.1, CCDS44469.1	10q24.1	2010-12-19	2010-12-19	2010-12-19	ENSG00000241935	ENSG00000241935			25155	protein-coding gene	gene with protein product	"dihydrodipicolinate synthetase homolog 2 (E. coli)", "N-acetylneuraminate pyruvate lyase 2 (putative)"	613597	"chromosome 10 open reading frame 65", "dihydrodipicolinate synthase-like, mitochondrial"	C10orf65, DHDPSL		20797690	Standard	NM_001134670		Approved	FLJ37472, DHDPS2, NPL2		Q86XE5	OTTHUMG00000018859	ENST00000370646.4:c.257G>T	10.37:g.99358577G>T	ENSP00000359680:p.Ser86Ile					PI4K2A_ENST00000370649.3_Intron|PI4K2A_ENST00000555577.1_Intron|HOGA1_ENST00000370647.4_Intron	p.S86I	NM_138413.3	NP_612422.2					2	618	+								A8K075|Q5T680|Q5T684|Q711P0|Q8N9F2|Q96EV5	Missense_Mutation	SNP	ENST00000370646.4	37	c.257G>T	CCDS7467.1	.	.	.	.	.	.	.	.	.	.	G	12.90	2.076052	0.36662	.	.	ENSG00000241935	ENST00000370646	D	0.94966	-3.57	4.97	4.97	0.65823	Aldolase-type TIM barrel (1);	0.272597	0.43416	D	0.000568	D	0.89629	0.6770	L	0.38175	1.15	0.36393	D	0.862617	B	0.21821	0.061	B	0.24701	0.055	D	0.86473	0.1786	10	0.22109	T	0.4	-25.664	9.1297	0.36837	0.0829:0.1611:0.756:0.0	.	86	Q86XE5	HOGA1_HUMAN	I	86	ENSP00000359680:S86I	ENSP00000359680:S86I	S	+	2	0	HOGA1	99348567	1.000000	0.71417	0.997000	0.53966	0.912000	0.54170	2.003000	0.40844	2.299000	0.77371	0.655000	0.94253	AGC		0.597	HOGA1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049726.1	NM_138413		4	97	1	0	0.000602214	1	0.000614259	4	97					T	99358577	G	T	99358577	3	4	419	1	0	0	0	0	1	0	0	0	4480	971	34	5	263	5	DHDPSL	10	99358577	Missense_Mutation	SNP	G	TCGA-VP-A87J-01A-11D-A34U-08		99358577	36176170	17	20300											
ADAM12	8038	broad.mit.edu	37	chr10	127782593	127782593	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcagcctcctttctcaaccGccatttgacagctacagccc	8	10	6	17	1	1	1	1	1	1	0	3	1	2	1	5	0	6	2	5	0	2	3	rs374529217		TCGA-VP-A87J-01A-11D-A34U-08	TCGA-VP-A87J-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc7970c4-93d3-4646-9de0-8fd9c5d420d8	981257f9-1967-453d-8bd8-723f254f32c6	g.chr10:127782593G>A	ENST00000368679.4	-	11	1424	c.1115C>T	c.(1114-1116)gCg>gTg	p.A372V	ADAM12_ENST00000368676.4_Missense_Mutation_p.A372V	NM_003474.4	NP_003465.3	O43184	ADA12_HUMAN	ADAM metallopeptidase domain 12	372	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				cell adhesion (GO:0007155)|epidermal growth factor receptor signaling pathway (GO:0007173)|myoblast fusion (GO:0007520)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|SH3 domain binding (GO:0017124)|zinc ion binding (GO:0008270)			biliary_tract(1)|breast(7)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69		all_epithelial(44;7.06e-05)|all_lung(145;0.00563)|Lung NSC(174;0.00834)|Colorectal(57;0.102)|all_neural(114;0.107)|Breast(234;0.22)		COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.216)		TTTCTCAACCGCCATTTGACA	0.537																																						ENST00000368679.4																			0				biliary_tract(1)|breast(7)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						c.(1114-1116)gCg>gTg		ADAM metallopeptidase domain 12							184	157	166					10																	127782593		2203	4300	6503	SO:0001583	missense	8038				cell adhesion|epidermal growth factor receptor signaling pathway|myoblast fusion|proteolysis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|protein binding|SH3 domain binding|zinc ion binding	g.chr10:127782593G>A	AF023476	CCDS7653.1, CCDS7654.1	10q26	2008-07-29	2008-07-29		ENSG00000148848	ENSG00000148848		"ADAM metallopeptidase domain containing"	190	protein-coding gene	gene with protein product	"meltrin alpha"	602714	"a disintegrin and metalloproteinase domain 12 (meltrin alpha)"			9417060, 18342566	Standard	NM_003474		Approved	MCMPMltna, MLTN	uc001ljk.2	O43184	OTTHUMG00000019243	ENST00000368679.4:c.1115C>T	10.37:g.127782593G>A	ENSP00000357668:p.Ala372Val					ADAM12_ENST00000368676.4_Missense_Mutation_p.A372V	p.A372V	NM_003474.4	NP_003465.3	O43184	ADA12_HUMAN		COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.216)	11	1424	-		all_epithelial(44;7.06e-05)|all_lung(145;0.00563)|Lung NSC(174;0.00834)|Colorectal(57;0.102)|all_neural(114;0.107)|Breast(234;0.22)	372			Peptidase M12B.		O60470|Q5JRP0|Q5JRP1|Q6P9E3|Q6UWB0	Missense_Mutation	SNP	ENST00000368679.4	37	c.1115C>T	CCDS7653.1	.	.	.	.	.	.	.	.	.	.	G	9.670	1.146498	0.21288	.	.	ENSG00000148848	ENST00000368679;ENST00000368676	D;D	0.86694	-2.16;-2.16	4.89	2.98	0.34508	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.229889	0.37530	N	0.002060	D	0.82701	0.5094	L	0.57536	1.79	0.09310	N	1	P;B;B;B;P	0.35348	0.496;0.441;0.441;0.441;0.496	B;B;B;B;B	0.34452	0.183;0.115;0.115;0.176;0.129	T	0.74785	-0.3547	10	0.45353	T	0.12	.	10.1585	0.42838	0.0725:0.0:0.7925:0.135	.	369;369;372;369;372	A8K6G4;O43184-3;O43184-2;O43184-4;O43184	.;.;.;.;ADA12_HUMAN	V	372	ENSP00000357668:A372V;ENSP00000357665:A372V	ENSP00000357665:A372V	A	-	2	0	ADAM12	127772583	0.997000	0.39634	0.003000	0.11579	0.005000	0.04900	5.066000	0.64351	1.282000	0.44496	-0.493000	0.04662	GCG		0.537	ADAM12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050961.1			28	42	0	0	0	1	0	28	42					A	127782593	G	A	127782593	3	1	419	1	0	0	0	0	1	0	0	0	236	1087	38	1	1774	1	ADAM12	10	127782593	Missense_Mutation	SNP	G	TCGA-VP-A87J-01A-11D-A34U-08	28424016	127782593	7752154	18	20301											
PGR	5241	broad.mit.edu	37	chr11	100998642	100998642	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cgccttcctcctcctcctttAtctttagagcgggcggctgg	3	13	10	15	3	1	1	0	0	1	1	5	1	5	1	5	3	1	1	5	3	2	5			TCGA-VP-A87J-01A-11D-A34U-08	TCGA-VP-A87J-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc7970c4-93d3-4646-9de0-8fd9c5d420d8	981257f9-1967-453d-8bd8-723f254f32c6	g.chr11:100998642A>G	ENST00000325455.5	-	1	2613	c.1160T>C	c.(1159-1161)aTa>aCa	p.I387T	PGR_ENST00000263463.5_Missense_Mutation_p.I387T|PGR_ENST00000534013.1_Intron	NM_000926.4|NM_001202474.1|NM_001271162.1	NP_000917.3|NP_001189403.1|NP_001258091.1	P06401	PRGR_HUMAN	progesterone receptor	387	Modulating, Pro-Rich.				cell-cell signaling (GO:0007267)|epithelial cell maturation (GO:0002070)|gene expression (GO:0010467)|negative regulation of gene expression (GO:0010629)|ovulation from ovarian follicle (GO:0001542)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|progesterone receptor signaling pathway (GO:0050847)|regulation of epithelial cell proliferation (GO:0050678)|signal transduction (GO:0007165)|tertiary branching involved in mammary gland duct morphogenesis (GO:0060748)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mitochondrial outer membrane (GO:0005741)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|receptor binding (GO:0005102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|liver(1)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	36		Acute lymphoblastic leukemia(157;0.000885)|all_hematologic(158;0.014)		LUSC - Lung squamous cell carcinoma(1;0.0387)|BRCA - Breast invasive adenocarcinoma(274;0.124)|OV - Ovarian serous cystadenocarcinoma(223;0.148)|Lung(307;0.164)	Allylestrenol(DB01431)|Danazol(DB01406)|Desogestrel(DB00304)|Drospirenone(DB01395)|Dydrogesterone(DB00378)|Ethynodiol(DB00823)|Etonogestrel(DB00294)|Fluticasone Propionate(DB00588)|Levonorgestrel(DB00367)|Medroxyprogesterone Acetate(DB00603)|Megestrol acetate(DB00351)|Mifepristone(DB00834)|Norelgestromin(DB06713)|Norethindrone(DB00717)|Norgestimate(DB00957)|Progesterone(DB00396)|Spironolactone(DB00421)	CTCCTCCTTTATCTTTAGAGC	0.677																																					Pancreas(124;2271 2354 21954 22882)	ENST00000325455.5																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|liver(1)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	36						c.(1159-1161)aTa>aCa		progesterone receptor	Desogestrel(DB00304)|Drospirenone(DB01395)|Dydrogesterone(DB00378)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Mifepristone(DB00834)|Norethindrone(DB00717)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396)						11	15	14					11																	100998642		2009	4033	6042	SO:0001583	missense	5241				cell-cell signaling|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	enzyme binding|receptor binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding	g.chr11:100998642A>G	M15716	CCDS8310.1, CCDS59229.1	11q22-q23	2013-01-16			ENSG00000082175	ENSG00000082175		"Nuclear hormone receptors"	8910	protein-coding gene	gene with protein product		607311					Standard	NM_000926		Approved	PR, NR3C3	uc001pgh.2	P06401	OTTHUMG00000167531	ENST00000325455.5:c.1160T>C	11.37:g.100998642A>G	ENSP00000325120:p.Ile387Thr					PGR_ENST00000263463.5_Missense_Mutation_p.I387T|PGR_ENST00000534013.1_Intron	p.I387T	NM_000926.4|NM_001202474.1	NP_000917.3|NP_001189403.1	P06401	PRGR_HUMAN		LUSC - Lung squamous cell carcinoma(1;0.0387)|BRCA - Breast invasive adenocarcinoma(274;0.124)|OV - Ovarian serous cystadenocarcinoma(223;0.148)|Lung(307;0.164)	1	2613	-		Acute lymphoblastic leukemia(157;0.000885)|all_hematologic(158;0.014)	387			Modulating, Pro-Rich.		A7LQ08|A7X8B0|B4E3T0|Q8TDS3|Q9UPF7	Missense_Mutation	SNP	ENST00000325455.5	37	c.1160T>C	CCDS8310.1	.	.	.	.	.	.	.	.	.	.	A	18.20	3.572200	0.65765	.	.	ENSG00000082175	ENST00000325455;ENST00000263463;ENST00000537623	T;T	0.14893	2.47;2.47	4.02	4.02	0.46733	.	0.815655	0.09929	N	0.737443	T	0.45115	0.1326	M	0.82323	2.585	0.34075	D	0.658901	D;D	0.76494	0.999;0.968	D;D	0.70487	0.95;0.969	T	0.54801	-0.8239	10	0.87932	D	0	.	11.5381	0.50651	1.0:0.0:0.0:0.0	.	387;387	Q8TDS3;P06401	.;PRGR_HUMAN	T	387	ENSP00000325120:I387T;ENSP00000263463:I387T	ENSP00000263463:I387T	I	-	2	0	PGR	100503852	1.000000	0.71417	1.000000	0.80357	0.929000	0.56500	4.483000	0.60264	1.445000	0.47624	0.374000	0.22700	ATA		0.677	PGR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394934.1			14	14	0	0	0	1	0	14	14					G	100998642	A	G	100998642	3	3	419	1	0	0	0	0	1	0	0	0	11805	449	16	4	1673	4	PGR	11	100998642	Missense_Mutation	SNP	A	TCGA-VP-A87J-01A-11D-A34U-08		100998642	34007874	19	20302											
CDKN1B	1027	broad.mit.edu	37	chr12	12871204	12871204	+	Nonsense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtcggacagccagacggggtTagcggagcaatgcgcaggaa	11	4	17	9	4	0	1	0	0	0	1	1	4	0	4	1	5	4	3	1	5	3	1			TCGA-VP-A87J-01A-11D-A34U-08	TCGA-VP-A87J-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc7970c4-93d3-4646-9de0-8fd9c5d420d8	981257f9-1967-453d-8bd8-723f254f32c6	g.chr12:12871204T>G	ENST00000228872.4	+	1	1147	c.431T>G	c.(430-432)tTa>tGa	p.L144*	CDKN1B_ENST00000396340.1_Nonsense_Mutation_p.L144*|CDKN1B_ENST00000477087.1_Intron	NM_004064.3	NP_004055.1	P46527	CDN1B_HUMAN	cyclin-dependent kinase inhibitor 1B (p27, Kip1)	144					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|autophagic cell death (GO:0048102)|cell cycle arrest (GO:0007050)|cellular response to antibiotic (GO:0071236)|cellular response to lithium ion (GO:0071285)|cellular response to organic cyclic compound (GO:0071407)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G1/S transition of mitotic cell cycle (GO:0000082)|innate immune response (GO:0045087)|inner ear development (GO:0048839)|mitotic cell cycle (GO:0000278)|mitotic cell cycle arrest (GO:0071850)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cellular component movement (GO:0051271)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|negative regulation of kinase activity (GO:0033673)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of phosphorylation (GO:0042326)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell death (GO:0010942)|positive regulation of cell proliferation (GO:0008284)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of protein catabolic process (GO:0045732)|potassium ion transport (GO:0006813)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|response to amino acid (GO:0043200)|response to cadmium ion (GO:0046686)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to glucose (GO:0009749)|response to hypoxia (GO:0001666)|response to peptide hormone (GO:0043434)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|protein phosphatase binding (GO:0019903)|transforming growth factor beta receptor, cytoplasmic mediator activity (GO:0005072)			breast(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(5)	13		Prostate(47;0.0322)|all_epithelial(100;0.159)		BRCA - Breast invasive adenocarcinoma(232;0.0336)		CAGACGGGGTTAGCGGAGCAA	0.597																																						ENST00000228872.4																			0				breast(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(5)	13						c.(430-432)tTa>tGa		cyclin-dependent kinase inhibitor 1B (p27, Kip1)							35	34	35					12																	12871204		2203	4300	6503	SO:0001587	stop_gained	1027				autophagic cell death|cell cycle arrest|cellular response to lithium ion|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of transcription, DNA-dependent|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of protein catabolic process|S phase of mitotic cell cycle	cytosol|endosome|nucleoplasm	cyclin-dependent protein kinase inhibitor activity|protein phosphatase binding|transforming growth factor beta receptor, cytoplasmic mediator activity	g.chr12:12871204T>G	AF480891	CCDS8653.1	12p13.1-p12	2008-08-04			ENSG00000111276	ENSG00000111276			1785	protein-coding gene	gene with protein product		600778				8033212	Standard	NM_004064		Approved	KIP1, P27KIP1	uc001rat.2	P46527	OTTHUMG00000149914	ENST00000228872.4:c.431T>G	12.37:g.12871204T>G	ENSP00000228872:p.Leu144*					CDKN1B_ENST00000477087.1_Intron|CDKN1B_ENST00000396340.1_Nonsense_Mutation_p.L144*	p.L144*	NM_004064.3	NP_004055.1	P46527	CDN1B_HUMAN		BRCA - Breast invasive adenocarcinoma(232;0.0336)	1	1147	+		Prostate(47;0.0322)|all_epithelial(100;0.159)	144					Q16307|Q5U0H2|Q9BUS6	Nonsense_Mutation	SNP	ENST00000228872.4	37	c.431T>G	CCDS8653.1	.	.	.	.	.	.	.	.	.	.	T	42	9.462631	0.99178	.	.	ENSG00000111276	ENST00000228872;ENST00000535674;ENST00000396340	.	.	.	5.3	5.3	0.74995	.	0.413650	0.20169	N	0.097762	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.09084	T	0.74	-8.2811	10.64	0.45588	0.0:0.0:0.1603:0.8397	.	.	.	.	X	144;93;144	.	ENSP00000228872:L144X	L	+	2	0	CDKN1B	12762471	0.781000	0.28676	0.167000	0.22817	0.677000	0.39632	3.371000	0.52379	2.010000	0.58986	0.528000	0.53228	TTA		0.597	CDKN1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313878.2	NM_004064		4	16	0	0	0	1	0	4	16					G	12871204	T	G	12871204	4	3	419	1	0	0	0	0	0	1	0	0	3159	1764	61	5	433	5	CDKN1B	12	12871204	Nonsense_Mutation	SNP	T	TCGA-VP-A87J-01A-11D-A34U-08		12871204	120980691	20	20303											
NCKAP1L	3071	broad.mit.edu	37	chr12	54902249	54902249	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agtcattttacttctgtcacGgattgaagatcggcggatac	10	13	10	8	3	3	2	2	1	1	1	4	4	3	4	0	3	2	0	0	3	3	5			TCGA-VP-A87J-01A-11D-A34U-08	TCGA-VP-A87J-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc7970c4-93d3-4646-9de0-8fd9c5d420d8	981257f9-1967-453d-8bd8-723f254f32c6	g.chr12:54902249G>A	ENST00000293373.6	+	5	519	c.440G>A	c.(439-441)cGg>cAg	p.R147Q	NCKAP1L_ENST00000545638.2_Missense_Mutation_p.R97Q	NM_005337.4	NP_005328.2	P55160	NCKPL_HUMAN	NCK-associated protein 1-like	147					actin polymerization-dependent cell motility (GO:0070358)|B cell homeostasis (GO:0001782)|B cell receptor signaling pathway (GO:0050853)|chemotaxis (GO:0006935)|cortical actin cytoskeleton organization (GO:0030866)|erythrocyte development (GO:0048821)|maintenance of cell polarity (GO:0030011)|myeloid cell homeostasis (GO:0002262)|negative regulation of apoptotic process (GO:0043066)|negative regulation of interleukin-17 production (GO:0032700)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of myosin-light-chain-phosphatase activity (GO:0035509)|neutrophil chemotaxis (GO:0030593)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of CD4-positive, alpha-beta T cell differentiation (GO:0043372)|positive regulation of CD8-positive, alpha-beta T cell differentiation (GO:0043378)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of gamma-delta T cell differentiation (GO:0045588)|positive regulation of lymphocyte differentiation (GO:0045621)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of phagocytosis, engulfment (GO:0060100)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of T cell proliferation (GO:0042102)|protein complex assembly (GO:0006461)|response to drug (GO:0042493)|T cell homeostasis (GO:0043029)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|SCAR complex (GO:0031209)	protein complex binding (GO:0032403)|protein kinase activator activity (GO:0030295)|Rac GTPase activator activity (GO:0030675)	p.R147L(1)		NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2)	80						CTTCTGTCACGGATTGAAGAT	0.423																																						ENST00000293373.6																			1	Substitution - Missense(1)	p.R147L(1)	lung(1)	NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2)	80						c.(439-441)cGg>cAg		NCK-associated protein 1-like							267	245	253					12																	54902249		2203	4300	6503	SO:0001583	missense	3071				actin polymerization-dependent cell motility|B cell homeostasis|B cell receptor signaling pathway|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of actin filament polymerization|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|positive regulation of T cell proliferation|protein complex assembly|response to drug|T cell homeostasis	cytosol|integral to plasma membrane|membrane fraction|SCAR complex	protein complex binding|protein kinase activator activity|Rac GTPase activator activity	g.chr12:54902249G>A	AI924363	CCDS31813.1, CCDS53799.1	12q13.1	2005-10-11	2005-10-11	2005-10-11		ENSG00000123338			4862	protein-coding gene	gene with protein product		141180	"hematopoietic protein 1"	HEM1		1932118	Standard	NM_005337		Approved		uc001sgc.4	P55160	OTTHUMG00000169843	ENST00000293373.6:c.440G>A	12.37:g.54902249G>A	ENSP00000293373:p.Arg147Gln					NCKAP1L_ENST00000545638.2_Missense_Mutation_p.R97Q	p.R147Q	NM_005337.4	NP_005328.2	P55160	NCKPL_HUMAN			5	519	+			147					B4DUT5|Q52LW0	Missense_Mutation	SNP	ENST00000293373.6	37	c.440G>A	CCDS31813.1	.	.	.	.	.	.	.	.	.	.	G	36	5.852089	0.97023	.	.	ENSG00000123338	ENST00000293373;ENST00000545638	T;T	0.38560	1.13;1.13	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	T	0.68403	0.2997	M	0.81112	2.525	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.69785	-0.5051	10	0.66056	D	0.02	-14.3325	18.1531	0.89682	0.0:0.0:1.0:0.0	.	147	P55160	NCKPL_HUMAN	Q	147;97	ENSP00000293373:R147Q;ENSP00000445596:R97Q	ENSP00000293373:R147Q	R	+	2	0	NCKAP1L	53188516	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.490000	0.97952	2.885000	0.99019	0.655000	0.94253	CGG		0.423	NCKAP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406195.1	NM_005337		90	142	0	0	0	1	0	90	142					A	54902249	G	A	54902249	3	1	419	1	0	0	0	0	1	0	0	0	10222	1116	39	2	458	2	NCKAP1L	12	54902249	Missense_Mutation	SNP	G	TCGA-VP-A87J-01A-11D-A34U-08	42031045	54902249	78949646	21	20304											
ARHGAP9	64333	broad.mit.edu	37	chr12	57872994	57872994	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtggagggagcttctaggcGtcttgccaaccaccagtcgg	7	8	15	11	2	2	0	0	0	2	0	3	2	2	2	3	5	3	1	3	5	2	3	rs367755619		TCGA-VP-A87J-01A-11D-A34U-08	TCGA-VP-A87J-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc7970c4-93d3-4646-9de0-8fd9c5d420d8	981257f9-1967-453d-8bd8-723f254f32c6	g.chr12:57872994G>A	ENST00000356411.2	-	2	334	c.196C>T	c.(196-198)Cgc>Tgc	p.R66C	ARHGAP9_ENST00000393797.2_Missense_Mutation_p.R137C|ARHGAP9_ENST00000424809.2_Missense_Mutation_p.R66C|ARHGAP9_ENST00000393791.3_Missense_Mutation_p.R66C|ARHGAP9_ENST00000430041.2_5'Flank|ARHGAP9_ENST00000550288.1_Missense_Mutation_p.R145C|ARHGAP9_ENST00000550454.1_5'Flank			Q9BRR9	RHG09_HUMAN	Rho GTPase activating protein 9	66	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				positive regulation of GTPase activity (GO:0043547)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)			endometrium(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(1)	30			GBM - Glioblastoma multiforme(3;3.37e-34)			GCTTCTAGGCGTCTTGCCAAC	0.552																																						ENST00000393797.2																			0				endometrium(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(1)	30						c.(409-411)Cgc>Tgc		Rho GTPase activating protein 9		G	CYS/ARG,CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	146	123	131		196,196	3	1	12		131	0,8600		0,0,4300	no	missense,missense	ARHGAP9	NM_001080157.1,NM_032496.2	180,180	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging	66/641,66/732	57872994	1,13005	2203	4300	6503	SO:0001583	missense	64333				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding	g.chr12:57872994G>A	AB051853	CCDS8941.2, CCDS44928.1, CCDS44929.1	12q13.3	2013-01-10			ENSG00000123329	ENSG00000123329		"Rho GTPase activating proteins", "Pleckstrin homology (PH) domain containing"	14130	protein-coding gene	gene with protein product		610576				11396949	Standard	NM_032496		Approved	MGC1295, 10C	uc001soc.3	Q9BRR9	OTTHUMG00000150147	ENST00000356411.2:c.196C>T	12.37:g.57872994G>A	ENSP00000348782:p.Arg66Cys					ARHGAP9_ENST00000550288.1_Missense_Mutation_p.R145C|ARHGAP9_ENST00000424809.2_Missense_Mutation_p.R66C|ARHGAP9_ENST00000356411.2_Missense_Mutation_p.R66C|ARHGAP9_ENST00000393791.3_Missense_Mutation_p.R66C	p.R137C			Q9BRR9	RHG09_HUMAN	GBM - Glioblastoma multiforme(3;3.37e-34)		5	601	-			66		R -> C (in dbSNP:rs3802989).			B4DVI3|E9PDX9|Q8NAF3|Q8TCJ3|Q8WYR0|Q96EZ2|Q96S74	Missense_Mutation	SNP	ENST00000356411.2	37	c.409C>T		.	.	.	.	.	.	.	.	.	.	G	19.03	3.747754	0.69533	2.27E-4	0.0	ENSG00000123329	ENST00000393791;ENST00000356411;ENST00000424809;ENST00000393797;ENST00000340423	T;T;T;T	0.48836	0.8;0.8;0.8;0.8	4.97	3.0	0.34707	Src homology-3 domain (4);	0.000000	0.64402	D	0.000002	T	0.53061	0.1773	L	0.40543	1.245	0.35112	D	0.766244	D;B;D;B;B	0.89917	1.0;0.033;0.999;0.015;0.019	D;B;P;B;B	0.75484	0.986;0.013;0.828;0.002;0.008	T	0.62656	-0.6808	10	0.72032	D	0.01	.	5.7321	0.18047	0.1005:0.0:0.708:0.1914	.	66;145;66;66;66	B4E248;Q6ZN13;Q9BRR9;Q9BRR9-2;E9PDX9	.;.;RHG09_HUMAN;.;.	C	66;66;66;137;115	ENSP00000377380:R66C;ENSP00000348782:R66C;ENSP00000394307:R66C;ENSP00000377386:R137C	ENSP00000344852:R115C	R	-	1	0	ARHGAP9	56159261	0.995000	0.38212	0.990000	0.47175	0.974000	0.67602	2.637000	0.46553	1.221000	0.43506	0.655000	0.94253	CGC		0.552	ARHGAP9-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_032496		39	62	0	0	0	1	0	39	62					A	57872994	G	A	57872994	3	1	419	1	0	0	0	0	1	0	0	0	889	1145	40	1	2067	1	ARHGAP9	12	57872994	Missense_Mutation	SNP	G	TCGA-VP-A87J-01A-11D-A34U-08	2970745	57872994	75978901	22	20305											
UTP14C	9724	broad.mit.edu	37	chr13	52603570	52603570	+	Silent	SNP	T	T	C																															actcccatggaaaaggcctcTctccaagccatgagcctgga																										TCGA-VP-A87J-01A-11D-A34U-08	TCGA-VP-A87J-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc7970c4-93d3-4646-9de0-8fd9c5d420d8	981257f9-1967-453d-8bd8-723f254f32c6	g.chr13:52603570T>C	ENST00000521776.2	+	2	1363	c.630T>C	c.(628-630)tcT>tcC	p.S210S	ALG11_ENST00000523764.1_3'UTR|ALG11_ENST00000521508.1_3'UTR	NM_021645.5	NP_067677.4	Q5TAP6	UT14C_HUMAN	UTP14, U3 small nucleolar ribonucleoprotein, homolog C (yeast)	210					cell differentiation (GO:0030154)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|rRNA processing (GO:0006364)|spermatogenesis (GO:0007283)	nucleus (GO:0005634)|small-subunit processome (GO:0032040)				breast(4)|cervix(1)|endometrium(1)|large_intestine(10)|lung(10)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1)	32		Breast(56;0.00173)|Lung NSC(96;0.0108)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;2.3e-08)		AAAAGGCCTCTCTCCAAGCCA	0.527																																						ENST00000521776.2																			0				breast(4)|cervix(1)|endometrium(1)|large_intestine(10)|lung(10)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1)	32						c.(628-630)tcT>tcC		UTP14, U3 small nucleolar ribonucleoprotein, homolog C (yeast)							72	73	73					13																	52603570		2203	4300	6503	SO:0001819	synonymous_variant	9724				cell differentiation|meiosis|multicellular organismal development|rRNA processing|spermatogenesis	nucleolus|small-subunit processome		g.chr13:52603570T>C	D87455	CCDS31978.1	13q12.2-q13.3	2010-11-23	2004-06-15	2004-06-16	ENSG00000253797	ENSG00000253797			20321	protein-coding gene	gene with protein product		608969	"KIAA0266"	KIAA0266		9039502, 16354793	Standard	NM_021645		Approved	2700066J21Rik	uc021rjw.1	Q5TAP6	OTTHUMG00000164353	ENST00000521776.2:c.630T>C	13.37:g.52603570T>C						ALG11_ENST00000521508.1_3'UTR|ALG11_ENST00000523764.1_3'UTR	p.S210S	NM_021645.5	NP_067677.4	Q5TAP6	UT14C_HUMAN		GBM - Glioblastoma multiforme(99;2.3e-08)	2	1363	+		Breast(56;0.00173)|Lung NSC(96;0.0108)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)	210					Q5FWG3|Q92555	Silent	SNP	ENST00000521776.2	37	c.630T>C	CCDS31978.1																																																																																				0.527	UTP14C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045049.2	NM_021645		8	80	0	0	0	1	0	8	80					C	52603570	T	C	52603570	2	2	419	1	0	0	0	0	0	0	0	1	17093	1538	54	4		4	UTP14C	13	52603570	Silent	SNP	T	TCGA-VP-A87J-01A-11D-A34U-08		52603570	62566308	23	20306	105	2									
UTP14C	9724	broad.mit.edu	37	chr13	52603571	52603571	+	Missense_Mutation	SNP	C	C	T																															ctcccatggaaaaggcctctCtccaagccatgagcctggaa																										TCGA-VP-A87J-01A-11D-A34U-08	TCGA-VP-A87J-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc7970c4-93d3-4646-9de0-8fd9c5d420d8	981257f9-1967-453d-8bd8-723f254f32c6	g.chr13:52603571C>T	ENST00000521776.2	+	2	1364	c.631C>T	c.(631-633)Ctc>Ttc	p.L211F	ALG11_ENST00000523764.1_3'UTR|ALG11_ENST00000521508.1_3'UTR	NM_021645.5	NP_067677.4	Q5TAP6	UT14C_HUMAN	UTP14, U3 small nucleolar ribonucleoprotein, homolog C (yeast)	211					cell differentiation (GO:0030154)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|rRNA processing (GO:0006364)|spermatogenesis (GO:0007283)	nucleus (GO:0005634)|small-subunit processome (GO:0032040)				breast(4)|cervix(1)|endometrium(1)|large_intestine(10)|lung(10)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1)	32		Breast(56;0.00173)|Lung NSC(96;0.0108)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;2.3e-08)		AAAGGCCTCTCTCCAAGCCAT	0.522																																						ENST00000521776.2																			0				breast(4)|cervix(1)|endometrium(1)|large_intestine(10)|lung(10)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1)	32						c.(631-633)Ctc>Ttc		UTP14, U3 small nucleolar ribonucleoprotein, homolog C (yeast)							71	73	72					13																	52603571		2203	4300	6503	SO:0001583	missense	9724				cell differentiation|meiosis|multicellular organismal development|rRNA processing|spermatogenesis	nucleolus|small-subunit processome		g.chr13:52603571C>T	D87455	CCDS31978.1	13q12.2-q13.3	2010-11-23	2004-06-15	2004-06-16	ENSG00000253797	ENSG00000253797			20321	protein-coding gene	gene with protein product		608969	"KIAA0266"	KIAA0266		9039502, 16354793	Standard	NM_021645		Approved	2700066J21Rik	uc021rjw.1	Q5TAP6	OTTHUMG00000164353	ENST00000521776.2:c.631C>T	13.37:g.52603571C>T	ENSP00000428619:p.Leu211Phe					ALG11_ENST00000521508.1_3'UTR|ALG11_ENST00000523764.1_3'UTR	p.L211F	NM_021645.5	NP_067677.4	Q5TAP6	UT14C_HUMAN		GBM - Glioblastoma multiforme(99;2.3e-08)	2	1364	+		Breast(56;0.00173)|Lung NSC(96;0.0108)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)	211					Q5FWG3|Q92555	Missense_Mutation	SNP	ENST00000521776.2	37	c.631C>T	CCDS31978.1	.	.	.	.	.	.	.	.	.	.	C	9.806	1.181754	0.21787	.	.	ENSG00000253797	ENST00000521776	T	0.20069	2.1	2.24	2.24	0.28232	.	0.217401	0.37261	N	0.002161	T	0.24353	0.0590	M	0.69248	2.105	0.49687	D	0.999814	B	0.28258	0.205	B	0.35312	0.2	T	0.06162	-1.0842	10	0.33141	T	0.24	-6.2564	10.1202	0.42616	0.0:1.0:0.0:0.0	.	211	Q5TAP6	UT14C_HUMAN	F	211	ENSP00000428619:L211F	ENSP00000428619:L211F	L	+	1	0	UTP14C	51501572	0.000000	0.05858	1.000000	0.80357	0.892000	0.51952	-0.809000	0.04510	1.269000	0.44280	0.448000	0.29417	CTC		0.522	UTP14C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045049.2	NM_021645		8	78	0	0	0	1	0	8	78					T	52603571	C	T	52603571	3	4	419	1	0	0	0	0	1	0	0	0	17093	913	32	3	633	3	UTP14C	13	52603571	Missense_Mutation	SNP	C	TCGA-VP-A87J-01A-11D-A34U-08	1	52603571	62566307	24	20307	105	2									
UACA	55075	broad.mit.edu	37	chr15	70960750	70960750	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taagatcatcaataattgcaTcatgtgactttttcatgtct	12	17	5	7	0	5	2	4	1	1	1	5	2	5	2	0	0	1	1	0	0	3	5			TCGA-VP-A87J-01A-11D-A34U-08	TCGA-VP-A87J-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc7970c4-93d3-4646-9de0-8fd9c5d420d8	981257f9-1967-453d-8bd8-723f254f32c6	g.chr15:70960750T>C	ENST00000322954.6	-	16	2458	c.2273A>G	c.(2272-2274)gAt>gGt	p.D758G	UACA_ENST00000560441.1_Missense_Mutation_p.D743G|UACA_ENST00000539319.1_Missense_Mutation_p.D649G|UACA_ENST00000379983.2_Missense_Mutation_p.D745G	NM_018003.2	NP_060473.2	Q9BZF9	UACA_HUMAN	uveal autoantigen with coiled-coil domains and ankyrin repeats	758					intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|negative regulation of inflammatory response (GO:0050728)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of protein import into nucleus (GO:0042307)|response to UV (GO:0009411)	apoptosome (GO:0043293)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)				breast(2)|endometrium(7)|kidney(4)|large_intestine(13)|lung(17)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	50						AATAATTGCATCATGTGACTT	0.303																																						ENST00000322954.6																			0				breast(2)|endometrium(7)|kidney(4)|large_intestine(13)|lung(17)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	50						c.(2272-2274)gAt>gGt		uveal autoantigen with coiled-coil domains and ankyrin repeats							69	69	69					15																	70960750		2198	4296	6494	SO:0001583	missense	55075					cytoskeleton|extracellular region		g.chr15:70960750T>C	AF322916	CCDS10235.1, CCDS32280.1	15q22-q24	2013-01-10			ENSG00000137831	ENSG00000137831		"Ankyrin repeat domain containing"	15947	protein-coding gene	gene with protein product		612516				11162650, 10997877	Standard	NM_001008224		Approved	FLJ10128, KIAA1561	uc002asr.3	Q9BZF9	OTTHUMG00000133363	ENST00000322954.6:c.2273A>G	15.37:g.70960750T>C	ENSP00000314556:p.Asp758Gly					UACA_ENST00000379983.2_Missense_Mutation_p.D745G|UACA_ENST00000560441.1_Missense_Mutation_p.D743G|UACA_ENST00000539319.1_Missense_Mutation_p.D649G	p.D758G	NM_018003.2	NP_060473.2	Q9BZF9	UACA_HUMAN			16	2458	-			758					G3XAG2|Q14DD3|Q8N3B8|Q96NH6|Q9HCL1|Q9NWC6	Missense_Mutation	SNP	ENST00000322954.6	37	c.2273A>G	CCDS10235.1	.	.	.	.	.	.	.	.	.	.	T	2.455	-0.325440	0.05350	.	.	ENSG00000137831	ENST00000322954;ENST00000379983;ENST00000539319	T;T;T	0.35421	1.31;1.32;1.81	5.85	-3.75	0.04372	.	0.521247	0.18681	N	0.134144	T	0.19167	0.0460	L	0.29908	0.895	0.22693	N	0.998845	B;B;B;B	0.11235	0.0;0.001;0.001;0.004	B;B;B;B	0.14578	0.003;0.006;0.004;0.011	T	0.26430	-1.0103	10	0.17832	T	0.49	-4.9397	8.4206	0.32698	0.0:0.3674:0.1038:0.5289	.	649;758;758;745	F5H2B9;B7ZKM6;Q9BZF9;G3XAG2	.;.;UACA_HUMAN;.	G	758;745;649	ENSP00000314556:D758G;ENSP00000369319:D745G;ENSP00000438667:D649G	ENSP00000314556:D758G	D	-	2	0	UACA	68747804	0.043000	0.20138	0.005000	0.12908	0.303000	0.27691	0.301000	0.19174	-0.319000	0.08652	0.533000	0.62120	GAT		0.303	UACA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257199.2			5	51	0	0	0	1	0	5	51					C	70960750	T	C	70960750	3	2	419	1	0	0	0	0	1	0	0	0	16821	1435	50	4	1993	4	UACA	15	70960750	Missense_Mutation	SNP	T	TCGA-VP-A87J-01A-11D-A34U-08		70960750	31570642	25	20308											
USP10	9100	broad.mit.edu	37	chr16	84793526	84793526	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatgaatgagttcactaataTgccagtacctccaaaacccc	15	9	5	12	0	1	2	1	2	0	0	2	2	2	2	5	0	3	2	5	0	7	4			TCGA-VP-A87J-01A-11D-A34U-08	TCGA-VP-A87J-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc7970c4-93d3-4646-9de0-8fd9c5d420d8	981257f9-1967-453d-8bd8-723f254f32c6	g.chr16:84793526T>C	ENST00000219473.7	+	7	1537	c.1424T>C	c.(1423-1425)aTg>aCg	p.M475T	USP10_ENST00000570191.1_Missense_Mutation_p.M479T	NM_001272075.1|NM_005153.2	NP_001259004.1|NP_005144.2	Q14694	UBP10_HUMAN	ubiquitin specific peptidase 10	475	USP.				autophagy (GO:0006914)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA repair (GO:0006281)|protein deubiquitination (GO:0016579)|regulation of autophagy (GO:0010506)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|ion channel binding (GO:0044325)|p53 binding (GO:0002039)|poly(A) RNA binding (GO:0044822)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			endometrium(3)|kidney(1)|large_intestine(7)|lung(3)|prostate(1)|stomach(1)|urinary_tract(1)	17						TTCACTAATATGCCAGTACCT	0.328																																						ENST00000219473.7																			0				endometrium(3)|kidney(1)|large_intestine(7)|lung(3)|prostate(1)|stomach(1)|urinary_tract(1)	17						c.(1423-1425)aTg>aCg		ubiquitin specific peptidase 10							116	107	110					16																	84793526		1827	4095	5922	SO:0001583	missense	9100				DNA damage response, signal transduction by p53 class mediator|DNA repair|protein deubiquitination|ubiquitin-dependent protein catabolic process	early endosome|intermediate filament cytoskeleton|nucleus	cystic fibrosis transmembrane conductance regulator binding|p53 binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr16:84793526T>C	D80012	CCDS45537.1, CCDS62004.1	16q	2008-03-25	2005-08-08			ENSG00000103194		"Ubiquitin-specific peptidases"	12608	protein-coding gene	gene with protein product		609818	"ubiquitin specific protease 10"			12838346	Standard	NM_005153		Approved	UBPO, KIAA0190	uc002fii.3	Q14694		ENST00000219473.7:c.1424T>C	16.37:g.84793526T>C	ENSP00000219473:p.Met475Thr					USP10_ENST00000570191.1_Missense_Mutation_p.M479T	p.M475T	NM_001272075.1|NM_005153.2	NP_001259004.1|NP_005144.2	Q14694	UBP10_HUMAN			7	1537	+			475					B2RDJ8|B4DS84|Q9BWG7|Q9NSL7	Missense_Mutation	SNP	ENST00000219473.7	37	c.1424T>C	CCDS45537.1	.	.	.	.	.	.	.	.	.	.	T	18.45	3.627213	0.66901	.	.	ENSG00000103194	ENST00000219473;ENST00000397953	T	0.28069	1.63	5.24	5.24	0.73138	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.421595	0.30003	N	0.010656	T	0.48960	0.1529	L	0.52011	1.625	0.80722	D	1	D;D	0.76494	0.999;0.982	D;D	0.69142	0.962;0.952	T	0.50197	-0.8856	10	0.87932	D	0	-34.2953	14.6316	0.68660	0.0:0.0:0.0:1.0	.	479;475	Q14694-3;Q14694	.;UBP10_HUMAN	T	475;37	ENSP00000219473:M475T	ENSP00000219473:M475T	M	+	2	0	USP10	83351027	1.000000	0.71417	0.998000	0.56505	0.943000	0.58893	7.318000	0.79029	2.108000	0.64289	0.533000	0.62120	ATG		0.328	USP10-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433660.1			26	17	0	0	0	1	0	26	17					C	84793526	T	C	84793526	3	2	419	1	0	0	0	0	1	0	0	0	17038	1464	51	4	1450	4	USP10	16	84793526	Missense_Mutation	SNP	T	TCGA-VP-A87J-01A-11D-A34U-08		84793526	5561227	26	20309											
CNTROB	116840	broad.mit.edu	37	chr17	7836490	7836490	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgggctcaaccaagtgtcGtctgaagtgacctcccagct	8	9	10	14	1	2	2	1	2	1	0	4	2	3	2	4	1	2	2	4	1	3	0			TCGA-VP-A87J-01A-11D-A34U-08	TCGA-VP-A87J-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc7970c4-93d3-4646-9de0-8fd9c5d420d8	981257f9-1967-453d-8bd8-723f254f32c6	g.chr17:7836490G>T	ENST00000563694.1	+	1	1018	c.93G>T	c.(91-93)tcG>tcT	p.S31S	CNTROB_ENST00000380262.3_Silent_p.S31S|CNTROB_ENST00000380255.3_Silent_p.S31S|CNTROB_ENST00000565740.1_Silent_p.S31S|TRAPPC1_ENST00000540486.1_5'Flank|RP11-1099M24.7_ENST00000573621.1_5'Flank|TRAPPC1_ENST00000303731.4_5'Flank	NM_053051.3	NP_444279.2	Q8N137	CNTRB_HUMAN	centrobin, centrosomal BRCA2 interacting protein	31					centriole replication (GO:0007099)|centrosome separation (GO:0051299)|cytokinesis (GO:0000910)	centriole (GO:0005814)|centrosome (GO:0005813)|cytoplasm (GO:0005737)	protein domain specific binding (GO:0019904)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)	25		Prostate(122;0.173)				ACCAAGTGTCGTCTGAAGTGA	0.612																																						ENST00000380262.3																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)	25						c.(91-93)tcG>tcT		centrobin, centrosomal BRCA2 interacting protein							104	109	107					17																	7836490		2203	4300	6503	SO:0001819	synonymous_variant	116840				centriole replication|centrosome separation|cytokinesis	centriole	protein domain specific binding	g.chr17:7836490G>T	AF331638	CCDS32557.1, CCDS11126.1	17p13.1	2006-03-15				ENSG00000170037			29616	protein-coding gene	gene with protein product	"centrobin"	611425				11984006, 16275750	Standard	NM_001037144		Approved	LIP8, PP1221	uc002gjp.3	Q8N137		ENST00000563694.1:c.93G>T	17.37:g.7836490G>T						CNTROB_ENST00000565740.1_Silent_p.S31S|CNTROB_ENST00000563694.1_Silent_p.S31S|CNTROB_ENST00000380255.3_Silent_p.S31S	p.S31S	NM_001037144.5	NP_001032221.1	Q8N137	CNTRB_HUMAN			1	1018	+		Prostate(122;0.173)	31					A6NHQ1|Q331K3|Q69YV7|Q8NCB8|Q8WXV3|Q96CQ7|Q9C060	Silent	SNP	ENST00000563694.1	37	c.93G>T	CCDS11126.1																																																																																				0.612	CNTROB-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000421372.1	NM_053051		50	87	1	0	4.01344e-20	1	4.65194e-20	50	87					T	7836490	G	T	7836490	2	4	419	1	0	0	0	0	0	0	0	1	3651	1132	40	5		5	CNTROB	17	7836490	Silent	SNP	G	TCGA-VP-A87J-01A-11D-A34U-08		7836490	73358720	27	20310											
FAM18B2	201158	broad.mit.edu	37	chr17	15406355	15406355	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtggagaactaaggcggggCgcaggtttccagtaaagagc	11	6	17	7	2	0	2	0	0	0	2	1	3	1	2	1	6	2	3	1	6	4	3	rs150726968		TCGA-VP-A87J-01A-11D-A34U-08	TCGA-VP-A87J-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc7970c4-93d3-4646-9de0-8fd9c5d420d8	981257f9-1967-453d-8bd8-723f254f32c6	g.chr17:15406355C>A	ENST00000225576.3	-	6	749	c.654G>T	c.(652-654)gcG>gcT	p.A218A	TVP23C_ENST00000519970.1_Intron|TVP23C-CDRT4_ENST00000522212.2_Intron	NM_145301.2	NP_660344.2	Q96ET8	TV23C_HUMAN	trans-golgi network vesicle protein 23 homolog C (S. cerevisiae)	218						integral component of membrane (GO:0016021)											TAAGGCGGGGCGCAGGTTTCC	0.597																																						ENST00000225576.3																			0											c.(652-654)gcG>gcT		trans-golgi network vesicle protein 23 homolog C (S. cerevisiae)							44	46	45					17																	15406355		2203	4300	6503	SO:0001819	synonymous_variant	201158							g.chr17:15406355C>A	BC011952	CCDS11170.1, CCDS45617.1	17p12	2012-11-29	2012-11-29	2012-11-29	ENSG00000175106	ENSG00000175106			30453	protein-coding gene	gene with protein product			"family with sequence similarity 18, member B2"	FAM18B2			Standard	NM_001135036		Approved	MGC8763	uc002goq.2	Q96ET8	OTTHUMG00000171461	ENST00000225576.3:c.654G>T	17.37:g.15406355C>A						TVP23C_ENST00000519970.1_Intron|TVP23C-CDRT4_ENST00000522212.2_Intron	p.A218A	NM_145301.2	NP_660344.2					6	749	-								Q3LIC7	Silent	SNP	ENST00000225576.3	37	c.654G>T	CCDS11170.1																																																																																				0.597	TVP23C-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000130705.2	NM_145301		15	26	1	0	2.48551e-13	1	2.75567e-13	15	26					A	15406355	C	A	15406355	2	1	419	1	0	0	0	0	0	0	0	1	5520	755	27	5		5	FAM18B2	17	15406355	Silent	SNP	C	TCGA-VP-A87J-01A-11D-A34U-08	7569865	15406355	65788855	28	20311											
NF1	4763	broad.mit.edu	37	chr17	29576014	29576014	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttgtaggttagaaccatcAgagagccttgaggaaaacca	14	10	10	7	0	1	3	1	1	0	2	1	5	1	4	3	2	3	2	3	2	5	5			TCGA-VP-A87J-01A-11D-A34U-08	TCGA-VP-A87J-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc7970c4-93d3-4646-9de0-8fd9c5d420d8	981257f9-1967-453d-8bd8-723f254f32c6	g.chr17:29576014A>G	ENST00000358273.4	+	30	4370	c.3987A>G	c.(3985-3987)tcA>tcG	p.S1329S	NF1_ENST00000356175.3_Silent_p.S1329S	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	1329	Ras-GAP. {ECO:0000255|PROSITE- ProRule:PRU00167}.				actin cytoskeleton organization (GO:0030036)|adrenal gland development (GO:0030325)|artery morphogenesis (GO:0048844)|brain development (GO:0007420)|camera-type eye morphogenesis (GO:0048593)|cell communication (GO:0007154)|cerebral cortex development (GO:0021987)|cognition (GO:0050890)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|forebrain astrocyte development (GO:0021897)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|liver development (GO:0001889)|MAPK cascade (GO:0000165)|metanephros development (GO:0001656)|myelination in peripheral nervous system (GO:0022011)|negative regulation of angiogenesis (GO:0016525)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of neurotransmitter secretion (GO:0046929)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of transcription factor import into nucleus (GO:0042992)|neural tube development (GO:0021915)|osteoblast differentiation (GO:0001649)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|pigmentation (GO:0043473)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of bone resorption (GO:0045124)|regulation of cell-matrix adhesion (GO:0001952)|regulation of glial cell differentiation (GO:0045685)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of Ras GTPase activity (GO:0032318)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to hypoxia (GO:0001666)|Schwann cell development (GO:0014044)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|visual learning (GO:0008542)|wound healing (GO:0042060)	axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)|nucleus (GO:0005634)	phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|Ras GTPase activator activity (GO:0005099)	p.0?(8)|p.?(4)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		TAGAACCATCAGAGAGCCTTG	0.368			"D, Mis, N, F, S, O"		"neurofibroma, glioma"	"neurofibroma, glioma"			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)																												ENST00000358273.4			yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	"D, Mis, N, F, S, O"	neurofibromatosis type 1 gene			O		"neurofibroma, glioma"	"neurofibroma, glioma"	NF1/ACCN1(2)	12	Whole gene deletion(8)|Unknown(4)	p.0?(8)|p.?(4)	soft_tissue(7)|autonomic_ganglia(2)|central_nervous_system(2)|lung(1)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599						c.(3985-3987)tcA>tcG		neurofibromin 1							102	97	98					17																	29576014		2203	4300	6503	SO:0001819	synonymous_variant	4763	Neurofibromatosis, type 1	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome	actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	g.chr17:29576014A>G		CCDS11264.1, CCDS42292.1, CCDS45645.1	17q11.2	2014-09-17	2008-07-31		ENSG00000196712	ENSG00000196712			7765	protein-coding gene	gene with protein product	"neurofibromatosis", "von Recklinghausen disease", "Watson disease"	613113				1715669	Standard	NM_000267		Approved		uc002hgg.3	P21359	OTTHUMG00000132871	ENST00000358273.4:c.3987A>G	17.37:g.29576014A>G		TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)				NF1_ENST00000356175.3_Silent_p.S1329S	p.S1329S	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)	30	4370	+		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)	1329			Ras-GAP.		O00662|Q14284|Q14930|Q14931|Q9UMK3	Silent	SNP	ENST00000358273.4	37	c.3987A>G	CCDS42292.1																																																																																				0.368	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256351.2	NM_000267		7	100	0	0	0	1	0	7	100					G	29576014	A	G	29576014	2	3	419	1	0	0	0	0	0	0	0	1	10356	175	7	4		4	NF1	17	29576014	Silent	SNP	A	TCGA-VP-A87J-01A-11D-A34U-08	14169659	29576014	51619196	29	20312											
IGF2BP1	10642	broad.mit.edu	37	chr17	47121347	47121347	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcaggctcccgagcaggagAtggtgcaggtgtttatcccc	8	8	14	11	1	0	1	0	0	0	1	2	3	2	1	3	4	3	5	3	4	1	2	rs574660242		TCGA-VP-A87J-01A-11D-A34U-08	TCGA-VP-A87J-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc7970c4-93d3-4646-9de0-8fd9c5d420d8	981257f9-1967-453d-8bd8-723f254f32c6	g.chr17:47121347A>G	ENST00000290341.3	+	11	1553	c.1219A>G	c.(1219-1221)Atg>Gtg	p.M407V	IGF2BP1_ENST00000431824.2_Missense_Mutation_p.M268V	NM_006546.3	NP_006537.3	Q9NZI8	IF2B1_HUMAN	insulin-like growth factor 2 mRNA binding protein 1	407	KH 3. {ECO:0000255|PROSITE- ProRule:PRU00117}.|Necessary for interaction with ELAVL4 and binding to TAU mRNA. {ECO:0000250}.				CRD-mediated mRNA stabilization (GO:0070934)|gene expression (GO:0010467)|mRNA transport (GO:0051028)|negative regulation of translation (GO:0017148)|regulation of cytokine biosynthetic process (GO:0042035)|regulation of mRNA stability involved in response to stress (GO:0010610)	CRD-mediated mRNA stability complex (GO:0070937)|cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|dendrite (GO:0030425)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	mRNA 3'-UTR binding (GO:0003730)|mRNA 5'-UTR binding (GO:0048027)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|translation regulator activity (GO:0045182)			breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						CGAGCAGGAGATGGTGCAGGT	0.617													A|||	1	0.000199681	0	0.0014	5008	,	,		18079	0		0	False		,,,				2504	0				Esophageal Squamous(198;1041 2123 8248 37119 38268)	ENST00000290341.3																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						c.(1219-1221)Atg>Gtg		insulin-like growth factor 2 mRNA binding protein 1							88	78	81					17																	47121347		2203	4300	6503	SO:0001583	missense	10642				CRD-mediated mRNA stabilization|negative regulation of translation|regulation of mRNA stability involved in response to stress	CRD-mediated mRNA stability complex|cytosol|dendritic spine|lamellipodium|nucleus|plasma membrane|stress granule	mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity	g.chr17:47121347A>G	AF198254	CCDS11543.1, CCDS54138.1	17q21.32	2013-02-12			ENSG00000159217	ENSG00000159217		"RNA binding motif (RRM) containing"	28866	protein-coding gene	gene with protein product	"IGF II mRNA binding protein 1"	608288				9891060, 11992722	Standard	NM_001160423		Approved	IMP-1	uc002iom.3	Q9NZI8	OTTHUMG00000161173	ENST00000290341.3:c.1219A>G	17.37:g.47121347A>G	ENSP00000290341:p.Met407Val					IGF2BP1_ENST00000431824.2_Missense_Mutation_p.M268V	p.M407V	NM_006546.3	NP_006537.3	Q9NZI8	IF2B1_HUMAN			11	1553	+			407			KH 3.|Necessary for interaction with ELAVL4 and binding to TAU mRNA (By similarity).		C9JT33	Missense_Mutation	SNP	ENST00000290341.3	37	c.1219A>G	CCDS11543.1	.	.	.	.	.	.	.	.	.	.	A	9.976	1.226707	0.22542	.	.	ENSG00000159217	ENST00000290341;ENST00000431824	T;T	0.61742	0.08;0.08	6.17	3.9	0.45041	K Homology (1);K Homology, type 1 (1);	0.210272	0.51477	N	0.000085	T	0.29355	0.0731	N	0.02916	-0.46	0.30377	N	0.782312	B;B	0.02656	0.0;0.0	B;B	0.08055	0.0;0.003	T	0.15321	-1.0441	10	0.31617	T	0.26	-31.1967	7.8007	0.29172	0.8074:0.0:0.0684:0.1242	.	268;407	C9JT33;Q9NZI8	.;IF2B1_HUMAN	V	407;268	ENSP00000290341:M407V;ENSP00000389135:M268V	ENSP00000290341:M407V	M	+	1	0	IGF2BP1	44476346	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.039000	0.41193	0.518000	0.28383	0.533000	0.62120	ATG		0.617	IGF2BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364046.1	NM_006546		43	48	0	0	0	1	0	43	48					G	47121347	A	G	47121347	3	3	419	1	0	0	0	0	1	0	0	0	7573	333	12	4	1261	4	IGF2BP1	17	47121347	Missense_Mutation	SNP	A	TCGA-VP-A87J-01A-11D-A34U-08	17545333	47121347	34073863	30	20313											
COLEC12	81035	broad.mit.edu	37	chr18	347050	347050	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aatacatttggttctgcagaTtgccctggagcacgctggta	9	12	11	9	1	1	1	0	0	1	1	1	2	1	2	1	3	4	5	1	3	3	5			TCGA-VP-A87J-01A-11D-A34U-08	TCGA-VP-A87J-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc7970c4-93d3-4646-9de0-8fd9c5d420d8	981257f9-1967-453d-8bd8-723f254f32c6	g.chr18:347050T>C	ENST00000400256.3	-	5	779	c.572A>G	c.(571-573)aAt>aGt	p.N191S		NM_130386.2	NP_569057	Q5KU26	COL12_HUMAN	collectin sub-family member 12	191					carbohydrate mediated signaling (GO:0009756)|defense response (GO:0006952)|innate immune response (GO:0045087)|pattern recognition receptor signaling pathway (GO:0002221)|phagocytosis, recognition (GO:0006910)|protein homooligomerization (GO:0051260)|receptor-mediated endocytosis (GO:0006898)	collagen trimer (GO:0005581)|endocytic vesicle membrane (GO:0030666)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	galactose binding (GO:0005534)|low-density lipoprotein particle binding (GO:0030169)|metal ion binding (GO:0046872)|scavenger receptor activity (GO:0005044)|signaling pattern recognition receptor activity (GO:0008329)			cervix(2)|endometrium(3)|kidney(2)|large_intestine(10)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	46		all_cancers(4;0.0442)|Myeloproliferative disorder(11;0.0426)				GTTCTGCAGATTGCCCTGGAG	0.473																																						ENST00000400256.3																			0				cervix(2)|endometrium(3)|kidney(2)|large_intestine(10)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	46						c.(571-573)aAt>aGt		collectin sub-family member 12							153	151	152					18																	347050		2203	4300	6503	SO:0001583	missense	81035				carbohydrate mediated signaling|innate immune response|phagocytosis, recognition|protein homooligomerization	collagen|integral to membrane	galactose binding|low-density lipoprotein particle binding|metal ion binding|pattern recognition receptor activity|scavenger receptor activity	g.chr18:347050T>C	AB038518	CCDS32782.1	18p11.32	2013-09-19			ENSG00000158270	ENSG00000158270		"Collectins"	16016	protein-coding gene	gene with protein product		607621				11162630	Standard	NM_130386		Approved	SRCL, CL-P1, SCARA4	uc002kkm.3	Q5KU26	OTTHUMG00000178145	ENST00000400256.3:c.572A>G	18.37:g.347050T>C	ENSP00000383115:p.Asn191Ser						p.N191S	NM_130386.2	NP_569057.1	Q5KU26	COL12_HUMAN			5	779	-		all_cancers(4;0.0442)|Myeloproliferative disorder(11;0.0426)	191					Q6P9F2|Q8TCR2|Q8WZA4|Q9BY85|Q9BYH7	Missense_Mutation	SNP	ENST00000400256.3	37	c.572A>G	CCDS32782.1	.	.	.	.	.	.	.	.	.	.	T	0.014	-1.592186	0.00864	.	.	ENSG00000158270	ENST00000400256	T	0.16597	2.33	6.08	4.92	0.64577	.	0.218728	0.56097	D	0.000038	T	0.06416	0.0165	N	0.08118	0	0.27389	N	0.955205	B	0.09022	0.002	B	0.04013	0.001	T	0.40251	-0.9573	10	0.02654	T	1	-14.1293	6.0433	0.19746	0.0:0.1374:0.1382:0.7244	.	191	Q5KU26	COL12_HUMAN	S	191	ENSP00000383115:N191S	ENSP00000383115:N191S	N	-	2	0	COLEC12	337050	0.998000	0.40836	0.896000	0.35187	0.741000	0.42261	3.047000	0.49854	1.128000	0.42052	0.533000	0.62120	AAT		0.473	COLEC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440746.1			13	119	0	0	0	1	0	13	119					C	347050	T	C	347050	3	2	419	1	0	0	0	0	1	0	0	0	3712	1493	52	4	1680	4	COLEC12	18	347050	Missense_Mutation	SNP	T	TCGA-VP-A87J-01A-11D-A34U-08		347050	77730198	31	20314											
PSMA8	143471	broad.mit.edu	37	chr18	23713978	23713978	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtcttctccccagacggaCacctttttcaagttgaatat	9	14	6	12	1	3	2	1	1	2	1	4	3	3	3	3	1	0	1	3	1	3	5			TCGA-VP-A87J-01A-11D-A34U-08	TCGA-VP-A87J-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc7970c4-93d3-4646-9de0-8fd9c5d420d8	981257f9-1967-453d-8bd8-723f254f32c6	g.chr18:23713978C>A	ENST00000308268.6	+	1	138	c.49C>A	c.(49-51)Cac>Aac	p.H17N	PSMA8_ENST00000415576.2_Missense_Mutation_p.H17N|PSMA8_ENST00000343848.6_Missense_Mutation_p.H17N	NM_001025096.1|NM_144662.2	NP_001020267.1|NP_653263.2	Q8TAA3	PSA7L_HUMAN	proteasome (prosome, macropain) subunit, alpha type, 8	17					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|proteasome core complex, alpha-subunit complex (GO:0019773)|spermatoproteasome complex (GO:1990111)	threonine-type endopeptidase activity (GO:0004298)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|skin(2)	16	all_cancers(21;0.000585)|Lung NSC(5;0.00148)|all_lung(6;0.0038)|Ovarian(20;0.124)		OV - Ovarian serous cystadenocarcinoma(3;0.000324)|all cancers(3;0.000954)|LUSC - Lung squamous cell carcinoma(2;0.181)			CCCAGACGGACACCTTTTTCA	0.562																																						ENST00000308268.6																			0				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|skin(2)	16						c.(49-51)Cac>Aac		proteasome (prosome, macropain) subunit, alpha type, 8							123	111	115					18																	23713978		2203	4300	6503	SO:0001583	missense	143471				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|mRNA metabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome core complex, alpha-subunit complex	threonine-type endopeptidase activity	g.chr18:23713978C>A	BC047355	CCDS32808.1, CCDS45842.1, CCDS45843.1	18q11.2	2006-12-18				ENSG00000154611		"Proteasome (prosome, macropain) subunits"	22985	protein-coding gene	gene with protein product							Standard	XM_005258199		Approved	MGC26605, PSMA7L	uc002kvq.3	Q8TAA3		ENST00000308268.6:c.49C>A	18.37:g.23713978C>A	ENSP00000311121:p.His17Asn					PSMA8_ENST00000415576.2_Missense_Mutation_p.H17N|PSMA8_ENST00000343848.6_Missense_Mutation_p.H17N	p.H17N	NM_001025096.1|NM_144662.2	NP_001020267.1|NP_653263.2	Q8TAA3	PSA7L_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;0.000324)|all cancers(3;0.000954)|LUSC - Lung squamous cell carcinoma(2;0.181)		1	138	+	all_cancers(21;0.000585)|Lung NSC(5;0.00148)|all_lung(6;0.0038)|Ovarian(20;0.124)		17					B0YJ75|Q8IVP4|Q8TA98|Q8TAA2	Missense_Mutation	SNP	ENST00000308268.6	37	c.49C>A	CCDS32808.1	.	.	.	.	.	.	.	.	.	.	C	15.38	2.815055	0.50527	.	.	ENSG00000154611	ENST00000308268;ENST00000415576;ENST00000343848;ENST00000536423	T;T;T	0.42131	0.98;0.98;0.98	5.08	5.08	0.68730	Proteasome, alpha-subunit, conserved site (3);	0.000000	0.85682	D	0.000000	T	0.59128	0.2171	M	0.87617	2.895	0.80722	D	1	B;B;B	0.30281	0.275;0.233;0.268	B;B;B	0.41174	0.349;0.237;0.111	T	0.65278	-0.6207	10	0.87932	D	0	-10.4781	16.019	0.80468	0.0:1.0:0.0:0.0	.	17;17;17	Q8TAA3;Q8TAA3-5;Q8TAA3-2	PSA7L_HUMAN;.;.	N	17	ENSP00000311121:H17N;ENSP00000409284:H17N;ENSP00000345584:H17N	ENSP00000311121:H17N	H	+	1	0	PSMA8	21967976	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.786000	0.75094	2.637000	0.89404	0.655000	0.94253	CAC		0.562	PSMA8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000446255.1	NM_144662		4	59	1	0	0.00909568	1	0.00909568	4	59					A	23713978	C	A	23713978	3	1	419	1	0	0	0	0	1	0	0	0	12673	478	17	5	51	5	PSMA8	18	23713978	Missense_Mutation	SNP	C	TCGA-VP-A87J-01A-11D-A34U-08	23366928	23713978	54363270	32	20315											
PSG1	5669	broad.mit.edu	37	chr19	43372287	43372287	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcatggatttggagctttcCttgccagtggctgagttacg	6	14	13	8	1	1	1	1	1	0	0	2	3	2	3	2	3	3	3	2	3	1	4			TCGA-VP-A87J-01A-11D-A34U-08	TCGA-VP-A87J-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc7970c4-93d3-4646-9de0-8fd9c5d420d8	981257f9-1967-453d-8bd8-723f254f32c6	g.chr19:43372287C>A	ENST00000436291.2	-	5	1325	c.1209G>T	c.(1207-1209)aaG>aaT	p.K403N	PSG1_ENST00000403380.3_Missense_Mutation_p.K310N|PSG1_ENST00000595356.1_Missense_Mutation_p.K403N|PSG1_ENST00000312439.6_Missense_Mutation_p.K403N|PSG1_ENST00000244296.2_Missense_Mutation_p.K403N|PSG1_ENST00000595124.1_Missense_Mutation_p.K310N	NM_001184825.1|NM_001184826.1	NP_001171754.1|NP_001171755.1	P11464	PSG1_HUMAN	pregnancy specific beta-1-glycoprotein 1	403	Ig-like C2-type 3.				female pregnancy (GO:0007565)	extracellular region (GO:0005576)				breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	30		Prostate(69;0.00682)				TGGAGCTTTCCTTGCCAGTGG	0.458																																						ENST00000244296.2																			0				breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	30						c.(1207-1209)aaG>aaT		pregnancy specific beta-1-glycoprotein 1							215	216	216					19																	43372287		2202	4296	6498	SO:0001583	missense	0							g.chr19:43372287C>A		CCDS12612.1, CCDS54275.1, CCDS59392.1, CCDS74380.1	19q13.2	2013-01-29			ENSG00000231924	ENSG00000231924		"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	9514	protein-coding gene	gene with protein product		176390		PSBG1			Standard	NM_006905		Approved	PSGGA, CD66f, PBG1		P11464	OTTHUMG00000151123	ENST00000436291.2:c.1209G>T	19.37:g.43372287C>A	ENSP00000413041:p.Lys403Asn					PSG1_ENST00000312439.6_Missense_Mutation_p.K403N|PSG1_ENST00000403380.3_Missense_Mutation_p.K310N|PSG1_ENST00000595356.1_Missense_Mutation_p.K403N|PSG1_ENST00000436291.2_Missense_Mutation_p.K403N|PSG1_ENST00000595124.1_Missense_Mutation_p.K310N	p.K403N	NM_006905.2	NP_008836.2					5	1346	-		Prostate(69;0.00682)						O75236|P11462|P11463|Q15231|Q15241|Q15243|Q16660|Q6ICR4|Q9P1W5|Q9UQ79	Missense_Mutation	SNP	ENST00000436291.2	37	c.1209G>T	CCDS54275.1	.	.	.	.	.	.	.	.	.	.	N	0.258	-1.001944	0.02128	.	.	ENSG00000231924	ENST00000436291;ENST00000403380;ENST00000312439;ENST00000244296	T;T;T;T	0.12774	2.65;2.65;2.65;2.65	1.59	-3.18	0.05186	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.17066	0.0410	L	0.53780	1.695	0.09310	N	1	B;P;B;P;B;B;P	0.42337	0.115;0.696;0.254;0.741;0.115;0.001;0.776	B;P;B;P;B;B;P	0.48488	0.187;0.535;0.284;0.568;0.187;0.005;0.579	T	0.12578	-1.0542	9	0.27785	T	0.31	.	9.0644	0.36453	0.0:0.6843:0.3157:0.0	.	403;310;403;310;403;310;275	P11464-4;G5E9F7;P11464;Q8NBY8;P11464-3;Q9UPK8;B4DTG5	.;.;PSG1_HUMAN;.;.;.;.	N	403;310;403;403	ENSP00000413041:K403N;ENSP00000385386:K310N;ENSP00000308970:K403N;ENSP00000244296:K403N	ENSP00000244296:K403N	K	-	3	2	PSG1	48064127	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-3.786000	0.00366	-1.201000	0.02659	-1.271000	0.01417	AAG		0.458	PSG1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000321426.1			95	177	1	0	4.70724e-39	1	5.583e-39	95	177					A	43372287	C	A	43372287	3	1	419	1	0	0	0	0	1	0	0	0	12653	680	24	5	111	5	PSG1	19	43372287	Missense_Mutation	SNP	C	TCGA-VP-A87J-01A-11D-A34U-08		43372287	15756696	33	20316											
ZNF45	7596	broad.mit.edu	37	chr19	44418401	44418401	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gatttgaggcccggcagaagCctttcccacactcctcacat	9	9	8	15	1	1	2	1	1	0	1	3	3	3	2	4	2	1	1	4	2	1	2			TCGA-VP-A87J-01A-11D-A34U-08	TCGA-VP-A87J-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc7970c4-93d3-4646-9de0-8fd9c5d420d8	981257f9-1967-453d-8bd8-723f254f32c6	g.chr19:44418401C>G	ENST00000269973.5	-	10	2277	c.1187G>C	c.(1186-1188)gGc>gCc	p.G396A	ZNF45_ENST00000589703.1_Missense_Mutation_p.G396A|RP11-15A1.2_ENST00000586247.1_RNA	NM_003425.3	NP_003416.1	Q02386	ZNF45_HUMAN	zinc finger protein 45	396					gene expression (GO:0010467)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	17						CCGGCAGAAGCCTTTCCCACA	0.517																																						ENST00000269973.5																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	17						c.(1186-1188)gGc>gCc		zinc finger protein 45							85	84	84					19																	44418401		2203	4300	6503	SO:0001583	missense	7596				multicellular organismal development	nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:44418401C>G	M67509	CCDS12632.1	19q13.2	2013-01-08	2005-01-11			ENSG00000124459		"Zinc fingers, C2H2-type", "-"	13111	protein-coding gene	gene with protein product		194554	"zinc finger protein 45 (a Kruppel-associated box (KRAB) domain polypeptide)", "zinc finger protein 13"	ZNF13		9067431	Standard	NM_003425		Approved		uc002oxw.2	Q02386		ENST00000269973.5:c.1187G>C	19.37:g.44418401C>G	ENSP00000269973:p.Gly396Ala					ZNF45_ENST00000589703.1_Missense_Mutation_p.G396A|RP11-15A1.2_ENST00000586247.1_RNA	p.G396A	NM_003425.3	NP_003416.1	Q02386	ZNF45_HUMAN			10	2277	-			396					P17016|P78472|Q9P1U9	Missense_Mutation	SNP	ENST00000269973.5	37	c.1187G>C	CCDS12632.1	.	.	.	.	.	.	.	.	.	.	C	15.94	2.979727	0.53827	.	.	ENSG00000124459	ENST00000269973;ENST00000328762	T	0.35236	1.32	3.62	2.47	0.30058	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.37178	N	0.002211	T	0.19127	0.0459	N	0.12831	0.26	0.29195	N	0.875599	P	0.36909	0.573	B	0.40602	0.334	T	0.16158	-1.0412	10	0.02654	T	1	-11.0372	12.4201	0.55516	0.0:0.8283:0.1717:0.0	.	396	Q02386	ZNF45_HUMAN	A	396	ENSP00000269973:G396A	ENSP00000269973:G396A	G	-	2	0	ZNF45	49110241	0.000000	0.05858	1.000000	0.80357	0.989000	0.77384	-0.022000	0.12480	2.030000	0.59900	0.462000	0.41574	GGC		0.517	ZNF45-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459919.1	NM_003425		29	56	0	0	0	1	0	29	56					G	44418401	C	G	44418401	3	3	419	1	0	0	0	0	1	0	0	0	17918	739	26	5	865	5	ZNF45	19	44418401	Missense_Mutation	SNP	C	TCGA-VP-A87J-01A-11D-A34U-08	1046114	44418401	14710582	34	20317											
NLRP7	199713	broad.mit.edu	37	chr19	55451127	55451127	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcccagctggaacagggccgCgttgctcctcattagctcaa	8	8	11	14	2	2	0	2	0	0	0	3	1	3	1	3	2	4	4	3	2	3	2			TCGA-VP-A87J-01A-11D-A34U-08	TCGA-VP-A87J-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc7970c4-93d3-4646-9de0-8fd9c5d420d8	981257f9-1967-453d-8bd8-723f254f32c6	g.chr19:55451127C>T	ENST00000590030.1	-	3	1100	c.1060G>A	c.(1060-1062)Gcg>Acg	p.A354T	NLRP7_ENST00000588756.1_Missense_Mutation_p.A354T|NLRP7_ENST00000340844.2_Missense_Mutation_p.A354T|NLRP7_ENST00000328092.5_Missense_Mutation_p.A354T|NLRP7_ENST00000448121.2_Missense_Mutation_p.A354T|NLRP7_ENST00000446217.1_Missense_Mutation_p.A382T|NLRP7_ENST00000592784.1_Missense_Mutation_p.A354T			Q8WX94	NALP7_HUMAN	NLR family, pyrin domain containing 7	354	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.						ATP binding (GO:0005524)			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73				GBM - Glioblastoma multiforme(193;0.0325)		AACAGGGCCGCGTTGCTCCTC	0.627																																						ENST00000588756.1																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73						c.(1060-1062)Gcg>Acg		NLR family, pyrin domain containing 7							29	32	31					19																	55451127		2203	4297	6500	SO:0001583	missense	199713						ATP binding	g.chr19:55451127C>T	AF464765	CCDS12912.1, CCDS33109.1, CCDS46183.1	19q13.42	2008-02-05	2006-12-08	2006-12-08		ENSG00000167634		"Nucleotide-binding domain and leucine rich repeat containing"	22947	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 7"	609661	"NACHT, leucine rich repeat and PYD containing 7"	NALP7		12563287, 12019269	Standard	NM_139176		Approved	PYPAF3, NOD12, PAN7, CLR19.4	uc002qii.4	Q8WX94		ENST00000590030.1:c.1060G>A	19.37:g.55451127C>T	ENSP00000465520:p.Ala354Thr					NLRP7_ENST00000592784.1_Missense_Mutation_p.A354T|NLRP7_ENST00000590030.1_Missense_Mutation_p.A354T|NLRP7_ENST00000448121.2_Missense_Mutation_p.A354T|NLRP7_ENST00000446217.1_Missense_Mutation_p.A382T|NLRP7_ENST00000340844.2_Missense_Mutation_p.A354T|NLRP7_ENST00000328092.5_Missense_Mutation_p.A354T	p.A354T			Q8WX94	NALP7_HUMAN		GBM - Glioblastoma multiforme(193;0.0325)	6	1546	-			354			NACHT.		E9PE16|Q32MH8|Q7RTR1	Missense_Mutation	SNP	ENST00000590030.1	37	c.1060G>A	CCDS33109.1	.	.	.	.	.	.	.	.	.	.	C	13.97	2.397236	0.42512	.	.	ENSG00000167634	ENST00000328092;ENST00000448121;ENST00000340844;ENST00000446217;ENST00000399724	T;T;T;T	0.72942	-0.65;-0.65;-0.7;-0.67	1.89	-0.448	0.12230	NACHT nucleoside triphosphatase (1);	0.883995	0.09194	N	0.835623	T	0.67002	0.2847	L	0.42686	1.345	0.09310	N	1	D;D;D;D	0.69078	0.995;0.991;0.995;0.997	P;P;P;P	0.52672	0.512;0.629;0.512;0.706	T	0.56032	-0.8046	10	0.46703	T	0.11	.	4.6323	0.12507	0.0:0.6199:0.2277:0.1524	.	382;354;354;354	E7EPM2;Q32MH9;Q8WX94;Q8WX94-2	.;.;NALP7_HUMAN;.	T	354;354;354;382;121	ENSP00000329568:A354T;ENSP00000409137:A354T;ENSP00000339491:A354T;ENSP00000414273:A382T	ENSP00000329568:A354T	A	-	1	0	NLRP7	60142939	0.000000	0.05858	0.001000	0.08648	0.273000	0.26683	-0.015000	0.12634	-0.046000	0.13446	0.462000	0.41574	GCG		0.627	NLRP7-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000451396.1	NM_139176		17	28	0	0	0	1	0	17	28					T	55451127	C	T	55451127	3	4	419	1	0	0	0	0	1	0	0	0	10482	768	27	1	2085	1	NLRP7	19	55451127	Missense_Mutation	SNP	C	TCGA-VP-A87J-01A-11D-A34U-08	11032726	55451127	3677856	35	20318											
NOP56	10528	broad.mit.edu	37	chr20	2637136	2637136	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agctgccaagaacaaaggccGcatctcccgatacctggcaa	13	5	9	14	2	1	1	0	0	1	1	2	2	1	1	4	2	4	3	4	2	5	1			TCGA-VP-A87J-01A-11D-A34U-08	TCGA-VP-A87J-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc7970c4-93d3-4646-9de0-8fd9c5d420d8	981257f9-1967-453d-8bd8-723f254f32c6	g.chr20:2637136G>A	ENST00000329276.5	+	9	1616	c.1100G>A	c.(1099-1101)cGc>cAc	p.R367H	SNORD110_ENST00000408189.1_RNA|SNORD56_ENST00000413522.1_RNA|SNORD86_ENST00000391196.1_RNA|IDH3B_ENST00000488299.1_5'Flank|SNORA51_ENST00000606420.1_RNA|SNORD57_ENST00000448188.1_RNA|NOP56_ENST00000492135.1_3'UTR	NM_006392.3	NP_006383.2	O00567	NOP56_HUMAN	NOP56 ribonucleoprotein	367	Nop. {ECO:0000255|PROSITE- ProRule:PRU00690}.				cell death (GO:0008219)|rRNA processing (GO:0006364)	box C/D snoRNP complex (GO:0031428)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|pre-snoRNP complex (GO:0070761)|small nucleolar ribonucleoprotein complex (GO:0005732)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|snoRNA binding (GO:0030515)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	25						AACAAAGGCCGCATCTCCCGA	0.527																																						ENST00000329276.5																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	25						c.(1099-1101)cGc>cAc		NOP56 ribonucleoprotein							67	65	66					20																	2637136		2203	4300	6503	SO:0001583	missense	10528				rRNA processing	box C/D snoRNP complex|pre-snoRNP complex	protein binding|snoRNA binding	g.chr20:2637136G>A	Y12065	CCDS13030.1	20p13	2012-12-10	2012-12-10	2009-01-13	ENSG00000101361	ENSG00000101361			15911	protein-coding gene	gene with protein product	"spinocerebellar ataxia 36"	614154	"nucleolar protein 5A (56kD with KKE/D repeat)", "nucleolar protein 5A (56kDa with KKE/D repeat)", "NOP56 ribonucleoprotein homolog (yeast)"	NOL5A		9372940, 21683323	Standard	NR_027700		Approved	SCA36	uc002wgh.3	O00567	OTTHUMG00000031703	ENST00000329276.5:c.1100G>A	20.37:g.2637136G>A	ENSP00000370589:p.Arg367His					NOP56_ENST00000492135.1_3'UTR	p.R367H	NM_006392.3	NP_006383.2	O00567	NOP56_HUMAN			9	1616	+			367			Nop.		Q2M3T6|Q9NQ05	Missense_Mutation	SNP	ENST00000329276.5	37	c.1100G>A	CCDS13030.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	26.6|26.6	4.749742|4.749742	0.89753|0.89753	.|.	.|.	ENSG00000101361|ENSG00000101361	ENST00000415272|ENST00000329276;ENST00000381169	.|T	.|0.67345	.|-0.26	5.91|5.91	5.91|5.91	0.95273|0.95273	.|Pre-mRNA processing ribonucleoprotein, snoRNA-binding domain (1);	.|0.045665	.|0.85682	.|D	.|0.000000	D|D	0.87273|0.87273	0.6136|0.6136	H|H	0.96777|0.96777	3.88|3.88	0.80722|0.80722	D|D	1|1	.|D;D	.|0.69078	.|0.995;0.997	.|P;P	.|0.62491	.|0.817;0.903	D|D	0.91007|0.91007	0.4847|0.4847	5|10	.|0.87932	.|D	.|0	-13.9747|-13.9747	17.7923|17.7923	0.88558|0.88558	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|114;367	.|E9PDI8;O00567	.|.;NOP56_HUMAN	T|H	108|367;114	.|ENSP00000370589:R367H	.|ENSP00000370589:R367H	A|R	+|+	1|2	0|0	NOP56|NOP56	2585136|2585136	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	9.659000|9.659000	0.98597|0.98597	2.793000|2.793000	0.96121|0.96121	0.655000|0.655000	0.94253|0.94253	GCA|CGC		0.527	NOP56-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077631.2	NM_006392		4	51	0	0	0	1	0	4	51					A	2637136	G	A	2637136	3	1	419	1	0	0	0	0	1	0	0	0	10539	1087	38	1	1134	1	NOP56	20	2637136	Missense_Mutation	SNP	G	TCGA-VP-A87J-01A-11D-A34U-08		2637136	60388384	36	20319											
APOBEC3F	200316	broad.mit.edu	37	chr22	39439011	39439011	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatagacccatcctttctcgTcggaataccgtctggctgtg	8	12	9	12	3	2	1	0	0	2	1	5	2	3	2	3	2	1	1	3	2	4	3			TCGA-VP-A87J-01A-11D-A34U-08	TCGA-VP-A87J-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc7970c4-93d3-4646-9de0-8fd9c5d420d8	981257f9-1967-453d-8bd8-723f254f32c6	g.chr22:39439011T>G	ENST00000308521.5	+	2	444	c.87T>G	c.(85-87)cgT>cgG	p.R29R	APOBEC3G_ENST00000452957.2_Intron|APOBEC3F_ENST00000381565.2_Silent_p.R29R|APOBEC3F_ENST00000491387.1_3'UTR	NM_145298.5	NP_660341.2	Q8IUX4	ABC3F_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3F	29					base conversion or substitution editing (GO:0016553)|cytidine deamination (GO:0009972)|defense response to virus (GO:0051607)|DNA cytosine deamination (GO:0070383)|DNA demethylation (GO:0080111)|innate immune response (GO:0045087)|negative regulation of single stranded viral RNA replication via double stranded DNA intermediate (GO:0045869)|negative regulation of transposition (GO:0010529)|negative regulation of viral genome replication (GO:0045071)|negative regulation of viral process (GO:0048525)|positive regulation of defense response to virus by host (GO:0002230)	apolipoprotein B mRNA editing enzyme complex (GO:0030895)|cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|ribonucleoprotein complex (GO:0030529)	cytidine deaminase activity (GO:0004126)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|skin(2)	16	Melanoma(58;0.04)					TCCTTTCTCGTCGGAATACCG	0.488																																						ENST00000308521.5																			0				breast(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|skin(2)	16						c.(85-87)cgT>cgG		apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3F							62	58	59					22																	39439011		2203	4297	6500	SO:0001819	synonymous_variant	200316				base conversion or substitution editing|DNA cytosine deamination|innate immune response|interspecies interaction between organisms|negative regulation of retroviral genome replication|negative regulation of transposition|positive regulation of defense response to virus by host|response to virus|viral reproduction	apolipoprotein B mRNA editing enzyme complex|cytosol|mitochondrion	cytidine deaminase activity|dCTP deaminase activity|protein homodimerization activity|RNA binding|zinc ion binding	g.chr22:39439011T>G	BC038808	CCDS33648.1, CCDS33649.1	22q13.1-q13.2	2008-05-15			ENSG00000128394	ENSG00000128394		"Apolipoprotein B mRNA editing enzymes"	17356	protein-coding gene	gene with protein product		608993				11863358, 17121840	Standard	NM_145298		Approved	ARP8, BK150C2.4.MRNA, KA6	uc003aww.3	Q8IUX4	OTTHUMG00000151080	ENST00000308521.5:c.87T>G	22.37:g.39439011T>G						APOBEC3G_ENST00000452957.2_Intron|APOBEC3F_ENST00000381565.2_Silent_p.R29R|APOBEC3F_ENST00000491387.1_3'UTR	p.R29R	NM_145298.5	NP_660341.2	Q9HC16	ABC3G_HUMAN			2	444	+	Melanoma(58;0.04)		29					B0QYD4|Q45F03|Q6ICH3|Q7Z2N2|Q7Z2N5	Silent	SNP	ENST00000308521.5	37	c.87T>G	CCDS33648.1																																																																																				0.488	APOBEC3F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321216.1	NM_145298		4	54	0	0	0	1	0	4	54					G	39439011	T	G	39439011	2	3	419	1	0	0	0	0	0	0	0	1	793	1654	58	5		5	APOBEC3F	22	39439011	Silent	SNP	T	TCGA-VP-A87J-01A-11D-A34U-08		39439011	11865555	37	20320											
MED12	9968	broad.mit.edu	37	chrX	70349255	70349255	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tggatggagccgtgtttgctGttctcaaggctgtgtttgta	5	16	14	6	1	1	0	1	0	1	0	2	2	1	2	1	3	2	6	1	3	2	4			TCGA-VP-A87J-01A-11D-A34U-08	TCGA-VP-A87J-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc7970c4-93d3-4646-9de0-8fd9c5d420d8	981257f9-1967-453d-8bd8-723f254f32c6	g.chrX:70349255G>C	ENST00000374080.3	+	26	3699	c.3667G>C	c.(3667-3669)Gtt>Ctt	p.V1223L	MED12_ENST00000333646.6_Missense_Mutation_p.V1223L|MED12_ENST00000374102.1_Missense_Mutation_p.V1223L			Q93074	MED12_HUMAN	mediator complex subunit 12	1223					androgen receptor signaling pathway (GO:0030521)|axis elongation involved in somitogenesis (GO:0090245)|canonical Wnt signaling pathway (GO:0060070)|gene expression (GO:0010467)|heart development (GO:0007507)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|negative regulation of Wnt signaling pathway (GO:0030178)|neural tube closure (GO:0001843)|oligodendrocyte development (GO:0014003)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|Schwann cell development (GO:0014044)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein C-terminus binding (GO:0008022)|protein domain specific binding (GO:0019904)|receptor activity (GO:0004872)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II transcription cofactor activity (GO:0001104)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					CGTGTTTGCTGTTCTCAAGGC	0.572			"M, S"		uterine leiomyoma		Opitz-Kaveggia Syndrome				OREG0019857	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000333646.6				Dom	yes		X	Xq13	9968	"M, S"	mediator complex subunit 12	Yes	Opitz-Kaveggia Syndrome	M			uterine leiomyoma		0				breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420						c.(3667-3669)Gtt>Ctt		mediator complex subunit 12							50	52	51					X																	70349255		2088	4191	6279	SO:0001583	missense	9968				androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	g.chrX:70349255G>C	U80742	CCDS43970.1	Xq13	2011-02-14	2007-07-30	2004-11-26	ENSG00000184634	ENSG00000184634			11957	protein-coding gene	gene with protein product		300188	"trinucleotide repeat containing 11 (THR-associated protein, 230kDa subunit)", "mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)", "FG syndrome 1"	TNRC11, FGS1		9225980, 10198638, 17334363, 20507344	Standard	NM_005120		Approved	CAGH45, HOPA, OPA1, TRAP230, KIAA0192, OKS	uc004dyy.3	Q93074	OTTHUMG00000021788	ENST00000374080.3:c.3667G>C	X.37:g.70349255G>C	ENSP00000363193:p.Val1223Leu		OREG0019857	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1121	MED12_ENST00000374080.3_Missense_Mutation_p.V1223L|MED12_ENST00000374102.1_Missense_Mutation_p.V1223L	p.V1223L	NM_005120.2	NP_005111.2	Q93074	MED12_HUMAN			26	3866	+	Renal(35;0.156)		1223					O15410|O75557|Q9UHV6|Q9UND7	Missense_Mutation	SNP	ENST00000374080.3	37	c.3667G>C	CCDS43970.1	.	.	.	.	.	.	.	.	.	.	.	24.7	4.557493	0.86231	.	.	ENSG00000184634	ENST00000333646;ENST00000536756;ENST00000374102;ENST00000374080;ENST00000430072	T;T;T;T	0.33654	1.4;1.4;1.4;1.4	5.09	5.09	0.68999	.	0.000000	0.85682	D	0.000000	T	0.59542	0.2201	M	0.72353	2.195	0.80722	D	1	P;D;P;P	0.53885	0.929;0.963;0.929;0.939	D;P;D;P	0.67231	0.95;0.859;0.95;0.863	T	0.59043	-0.7528	10	0.45353	T	0.12	-14.5208	17.9253	0.88982	0.0:0.0:1.0:0.0	.	1223;1070;1223;1223	F5H3Y1;Q7Z3Z5;Q93074-3;Q93074	.;.;.;MED12_HUMAN	L	1223;1223;1223;1223;1191	ENSP00000333125:V1223L;ENSP00000363215:V1223L;ENSP00000363193:V1223L;ENSP00000414203:V1191L	ENSP00000333125:V1223L	V	+	1	0	MED12	70265980	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.962000	0.93254	2.509000	0.84616	0.529000	0.55759	GTT		0.572	MED12-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000057105.1	NM_005120		18	3	0	0	0	1	0	18	3					C	70349255	G	C	70349255	3	2	419	1	0	0	0	0	1	0	0	0	9428	1377	48	5	3769	5	MED12	23	70349255	Missense_Mutation	SNP	G	TCGA-VP-A87J-01A-11D-A34U-08		70349255	84921305	38	20321											
PIK3CD	5293	broad.mit.edu	37	chr1	9775907	9775907	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cagccctccccaccccgcagGcctccacgagtttgactcct	6	7	7	21	2	0	1	0	1	0	0	3	2	3	1	8	1	1	2	8	1	0	1			TCGA-VP-A87K-01A-11D-A34U-08	TCGA-VP-A87K-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd313ed-de0b-435e-864c-1169b729acaf	abe6e709-1d51-4e6b-92a2-7e5c49b553ab	g.chr1:9775907G>A	ENST00000377346.4	+	5	566	c.371G>A	c.(370-372)gGc>gAc	p.G124D	PIK3CD_ENST00000361110.2_Splice_Site_p.G124D|PIK3CD_ENST00000543390.1_5'Flank|PIK3CD_ENST00000536656.1_Splice_Site_p.G124D	NM_005026.3	NP_005017.3	O00329	PK3CD_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta	124					adaptive immune response (GO:0002250)|B cell activation (GO:0042113)|B cell chemotaxis (GO:0035754)|B cell homeostasis (GO:0001782)|B cell receptor signaling pathway (GO:0050853)|cytokine production (GO:0001816)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|mast cell chemotaxis (GO:0002551)|mast cell degranulation (GO:0043303)|mast cell differentiation (GO:0060374)|natural killer cell activation (GO:0030101)|natural killer cell chemotaxis (GO:0035747)|natural killer cell differentiation (GO:0001779)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil chemotaxis (GO:0030593)|neutrophil extravasation (GO:0072672)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|protein phosphorylation (GO:0006468)|respiratory burst involved in defense response (GO:0002679)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|T cell activation (GO:0042110)|T cell chemotaxis (GO:0010818)|T cell differentiation (GO:0030217)|T cell receptor signaling pathway (GO:0050852)	cytosol (GO:0005829)|mast cell granule (GO:0042629)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)			central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(12)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31	all_lung(157;0.222)	all_lung(118;2.44e-05)|Lung NSC(185;4.08e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0231)|Colorectal(212;7.52e-08)|COAD - Colon adenocarcinoma(227;1.78e-05)|Kidney(185;0.000322)|KIRC - Kidney renal clear cell carcinoma(229;0.00114)|BRCA - Breast invasive adenocarcinoma(304;0.0021)|STAD - Stomach adenocarcinoma(132;0.00395)|READ - Rectum adenocarcinoma(331;0.0419)	Caffeine(DB00201)	CACCCCGCAGGCCTCCACGAG	0.682																																						ENST00000536656.1																			0				central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(12)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31						c.e5-1		phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta							13	15	15					1																	9775907		2196	4294	6490	SO:0001630	splice_region_variant	5293				phosphatidylinositol-mediated signaling|protein phosphorylation	phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding	g.chr1:9775907G>A		CCDS104.1	1p36.2	2014-09-17	2012-07-13		ENSG00000171608	ENSG00000171608	2.7.1.153		8977	protein-coding gene	gene with protein product	"phosphatidylinositol 3-kinase, catalytic, delta polypeptide", "phosphoinositide-3-kinase C"	602839	"phosphoinositide-3-kinase, catalytic, delta polypeptide"			9113989, 9455486	Standard	NM_005026		Approved	p110D	uc001aqb.4	O00329	OTTHUMG00000001450	ENST00000377346.4:c.371-1G>A	1.37:g.9775907G>A						PIK3CD_ENST00000361110.2_Splice_Site_p.G124_splice|PIK3CD_ENST00000377346.4_Splice_Site_p.G124_splice	p.G124_splice			O00329	PK3CD_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0231)|Colorectal(212;7.52e-08)|COAD - Colon adenocarcinoma(227;1.78e-05)|Kidney(185;0.000322)|KIRC - Kidney renal clear cell carcinoma(229;0.00114)|BRCA - Breast invasive adenocarcinoma(304;0.0021)|STAD - Stomach adenocarcinoma(132;0.00395)|READ - Rectum adenocarcinoma(331;0.0419)	5	579	+	all_lung(157;0.222)	all_lung(118;2.44e-05)|Lung NSC(185;4.08e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)	124					A6NCG0|G1FFP1|O15445|Q5SR49	Splice_Site	SNP	ENST00000377346.4	37	c.370_splice	CCDS104.1	.	.	.	.	.	.	.	.	.	.	G	20.0	3.931385	0.73442	.	.	ENSG00000171608	ENST00000536656;ENST00000377346;ENST00000361110;ENST00000360563	T;T;T	0.45668	0.89;0.89;0.89	5.57	5.57	0.84162	.	0.000000	0.85682	D	0.000000	T	0.62429	0.2427	L	0.60455	1.87	0.80722	D	1	P;D;D	0.89917	0.823;1.0;1.0	B;D;D	0.74674	0.414;0.984;0.984	T	0.58482	-0.7629	9	.	.	.	.	19.5625	0.95378	0.0:0.0:1.0:0.0	.	124;124;124	B7ZM44;Q5SR50;O00329	.;.;PK3CD_HUMAN	D	124	ENSP00000446444:G124D;ENSP00000366563:G124D;ENSP00000354410:G124D	.	G	+	2	0	PIK3CD	9698494	1.000000	0.71417	1.000000	0.80357	0.194000	0.23727	9.424000	0.97464	2.620000	0.88729	0.563000	0.77884	GGC		0.682	PIK3CD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004235.1	NM_005026	Missense_Mutation	3	24	0	0	0	1	0	3	24					A	9775907	G	A	9775907	5	1	420	1	0	0	0	0	0	0	1	0	11915	1217	42	3	381	3	PIK3CD	1	9775907	Splice_Site	SNP	G	TCGA-VP-A87K-01A-11D-A34U-08		9775907	239474714	1	20322											
EFCAB7	84455	broad.mit.edu	37	chr1	63991268	63991268	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgatcagtccacgaagcgatGcaactttctccagtcagaaa	13	8	8	12	3	3	1	2	0	1	1	5	4	4	1	2	0	3	1	2	0	3	1			TCGA-VP-A87K-01A-11D-A34U-08	TCGA-VP-A87K-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd313ed-de0b-435e-864c-1169b729acaf	abe6e709-1d51-4e6b-92a2-7e5c49b553ab	g.chr1:63991268G>A	ENST00000371088.4	+	2	271	c.25G>A	c.(25-27)Gca>Aca	p.A9T	ITGB3BP_ENST00000271002.10_5'Flank|ITGB3BP_ENST00000283568.8_5'Flank|ITGB3BP_ENST00000371092.3_5'Flank	NM_032437.2	NP_115813.2	A8K855	EFCB7_HUMAN	EF-hand calcium binding domain 7	9							calcium ion binding (GO:0005509)	p.A9T(1)		breast(1)|endometrium(4)|large_intestine(4)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	19						ACGAAGCGATGCAACTTTCTC	0.358																																						ENST00000371088.4																			1	Substitution - Missense(1)	p.A9T(1)	large_intestine(1)	breast(1)|endometrium(4)|large_intestine(4)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	19						c.(25-27)Gca>Aca		EF-hand calcium binding domain 7							73	80	77					1																	63991268		2203	4300	6503	SO:0001583	missense	84455						calcium ion binding	g.chr1:63991268G>A	BC015814	CCDS30737.1	1p31.3	2013-01-10			ENSG00000203965	ENSG00000203965		"EF-hand domain containing"	29379	protein-coding gene	gene with protein product						11347906	Standard	NM_032437		Approved	KIAA1799, RP4-534K7.1	uc001dbf.3	A8K855	OTTHUMG00000008983	ENST00000371088.4:c.25G>A	1.37:g.63991268G>A	ENSP00000360129:p.Ala9Thr						p.A9T	NM_032437.2	NP_115813.2	A8K855	EFCB7_HUMAN			2	271	+			9					Q658P0|Q96B95|Q96JM6	Missense_Mutation	SNP	ENST00000371088.4	37	c.25G>A	CCDS30737.1	.	.	.	.	.	.	.	.	.	.	G	8.199	0.797726	0.16327	.	.	ENSG00000203965	ENST00000371088	T	0.60797	0.16	5.01	0.954	0.19595	.	0.655308	0.15711	N	0.248415	T	0.25606	0.0623	L	0.51422	1.61	0.09310	N	0.999998	B	0.25772	0.134	B	0.17979	0.02	T	0.22695	-1.0209	10	0.72032	D	0.01	-0.4872	5.1033	0.14772	0.294:0.0:0.575:0.1309	.	9	A8K855	EFCB7_HUMAN	T	9	ENSP00000360129:A9T	ENSP00000360129:A9T	A	+	1	0	EFCAB7	63763856	0.047000	0.20315	0.113000	0.21522	0.073000	0.16967	0.752000	0.26362	0.157000	0.19338	-0.300000	0.09419	GCA		0.358	EFCAB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024910.1	NM_032437		6	100	0	0	0	1	0	6	100					A	63991268	G	A	63991268	3	1	420	1	0	0	0	0	1	0	0	0	4940	1319	46	3	27	3	EFCAB7	1	63991268	Missense_Mutation	SNP	G	TCGA-VP-A87K-01A-11D-A34U-08	54215361	63991268	185259353	2	20323											
OR1C1	26188	broad.mit.edu	37	chr1	247921334	247921334	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	taatgtaaggggtggcaaatCgccacatatctatcatacgc	13	10	9	9	2	2	0	1	0	1	0	3	0	2	0	1	3	1	2	1	3	6	5			TCGA-VP-A87K-01A-11D-A34U-08	TCGA-VP-A87K-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd313ed-de0b-435e-864c-1169b729acaf	abe6e709-1d51-4e6b-92a2-7e5c49b553ab	g.chr1:247921334C>T	ENST00000408896.2	-	1	648	c.375G>A	c.(373-375)gcG>gcA	p.A125A		NM_012353.2	NP_036485.2	Q15619	OR1C1_HUMAN	olfactory receptor, family 1, subfamily C, member 1	125					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A125A(1)		central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(32)|skin(2)|upper_aerodigestive_tract(1)	46	all_cancers(71;4.34e-05)|all_epithelial(71;1.13e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)	all_cancers(173;0.0247)	OV - Ovarian serous cystadenocarcinoma(106;0.0168)			GGTGGCAAATCGCCACATATC	0.507																																						ENST00000408896.2																			1	Substitution - coding silent(1)	p.A125A(1)	central_nervous_system(1)	central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(32)|skin(2)|upper_aerodigestive_tract(1)	46						c.(373-375)gcG>gcA		olfactory receptor, family 1, subfamily C, member 1							73	69	70					1																	247921334		2015	4176	6191	SO:0001819	synonymous_variant	26188				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:247921334C>T	X89674	CCDS41481.1	1q44	2012-08-09			ENSG00000221888	ENSG00000221888		"GPCR / Class A : Olfactory receptors"	8182	protein-coding gene	gene with protein product						9119360	Standard	NM_012353		Approved	TPCR27, HSTPCR27	uc010pza.2	Q15619	OTTHUMG00000040198	ENST00000408896.2:c.375G>A	1.37:g.247921334C>T							p.A125A	NM_012353.2	NP_036485.2	Q15619	OR1C1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0168)		1	648	-	all_cancers(71;4.34e-05)|all_epithelial(71;1.13e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)	all_cancers(173;0.0247)	125					B9EIR9|Q5VVD2|Q6IF97|Q8NGZ1|Q96R83	Silent	SNP	ENST00000408896.2	37	c.375G>A	CCDS41481.1																																																																																				0.507	OR1C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096855.1			19	23	0	0	0	1	0	19	23					T	247921334	C	T	247921334	2	4	420	1	0	0	0	0	0	0	0	1	10952	871	31	2		2	OR1C1	1	247921334	Silent	SNP	C	TCGA-VP-A87K-01A-11D-A34U-08	183930066	247921334	1329287	3	20324											
TRIM43	129868	broad.mit.edu	37	chr2	96260870	96260870	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	agagaaatctatatgaggagGgaagaacagccttcctctgg	14	8	12	7	0	2	3	0	1	2	2	3	6	3	5	2	3	2	0	2	3	5	3	rs201221399		TCGA-VP-A87K-01A-11D-A34U-08	TCGA-VP-A87K-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd313ed-de0b-435e-864c-1169b729acaf	abe6e709-1d51-4e6b-92a2-7e5c49b553ab	g.chr2:96260870G>A	ENST00000272395.2	+	3	620	c.484G>A	c.(484-486)Gga>Aga	p.G162R		NM_001164464.1|NM_138800.1	NP_001157936.1|NP_620155.1	Q96BQ3	TRI43_HUMAN	tripartite motif containing 43	162						intracellular (GO:0005622)	zinc ion binding (GO:0008270)	p.G162R(2)		breast(1)|large_intestine(3)|lung(7)|ovary(1)	12						ATATGAGGAGGGAAGAACAGC	0.398																																						ENST00000272395.2																			2	Substitution - Missense(2)	p.G162R(2)	lung(2)	breast(1)|large_intestine(3)|lung(7)|ovary(1)	12						c.(484-486)Gga>Aga		tripartite motif containing 43							71	67	68					2																	96260870		2203	4300	6503	SO:0001583	missense	129868					intracellular	zinc ion binding	g.chr2:96260870G>A	BK000505	CCDS2015.1	2q11	2014-02-17	2011-01-25		ENSG00000144015	ENSG00000144015		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	19015	protein-coding gene	gene with protein product			"tripartite motif-containing 43"				Standard	NM_138800		Approved	TRIM43A	uc002suv.3	Q96BQ3	OTTHUMG00000130401	ENST00000272395.2:c.484G>A	2.37:g.96260870G>A	ENSP00000272395:p.Gly162Arg						p.G162R	NM_001164464.1|NM_138800.1	NP_001157936.1|NP_620155.1	Q96BQ3	TRI43_HUMAN			3	620	+			162					Q53TJ7	Missense_Mutation	SNP	ENST00000272395.2	37	c.484G>A	CCDS2015.1	.	.	.	.	.	.	.	.	.	.	.	0.011	-1.704919	0.00719	.	.	ENSG00000144015	ENST00000272395	T	0.04603	3.59	0.911	-1.82	0.07857	.	.	.	.	.	T	0.01730	0.0055	N	0.04297	-0.235	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.40421	-0.9564	9	0.08381	T	0.77	5.3819	2.9369	0.05817	0.51:0.0:0.285:0.205	.	162	Q96BQ3	TRI43_HUMAN	R	162	ENSP00000272395:G162R	ENSP00000272395:G162R	G	+	1	0	TRIM43	95624597	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	-1.758000	0.01810	-2.941000	0.00297	-2.114000	0.00352	GGA		0.398	TRIM43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252784.1	NM_138800		4	50	0	0	0	1	0	4	50					A	96260870	G	A	96260870	3	1	420	1	0	0	0	0	1	0	0	0	16515	1233	43	3	490	3	TRIM43	2	96260870	Missense_Mutation	SNP	G	TCGA-VP-A87K-01A-11D-A34U-08		96260870	146938503	4	20325											
ZAP70	7535	broad.mit.edu	37	chr2	98355918	98355918	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cctggccagcaaggtggaagGgcccccaggcagcacacaga	11	2	14	14	0	0	1	0	0	0	1	0	2	0	2	4	5	2	3	4	5	2	0			TCGA-VP-A87K-01A-11D-A34U-08	TCGA-VP-A87K-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd313ed-de0b-435e-864c-1169b729acaf	abe6e709-1d51-4e6b-92a2-7e5c49b553ab	g.chr2:98355918G>A	ENST00000264972.5	+	14	2032	c.1817G>A	c.(1816-1818)gGg>gAg	p.G606E	ZAP70_ENST00000442208.1_Missense_Mutation_p.G480E|ZAP70_ENST00000463643.1_3'UTR|ZAP70_ENST00000451498.2_Missense_Mutation_p.G299E	NM_001079.3	NP_001070.2	P43403	ZAP70_HUMAN	zeta-chain (TCR) associated protein kinase 70kDa	606					adaptive immune response (GO:0002250)|B cell activation (GO:0042113)|beta selection (GO:0043366)|immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|negative thymic T cell selection (GO:0045060)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of alpha-beta T cell proliferation (GO:0046641)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of T cell differentiation (GO:0045582)|positive thymic T cell selection (GO:0045059)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|T cell activation (GO:0042110)|T cell aggregation (GO:0070489)|T cell differentiation (GO:0030217)|T cell migration (GO:0072678)|T cell receptor signaling pathway (GO:0050852)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|immunological synapse (GO:0001772)|plasma membrane (GO:0005886)|T cell receptor complex (GO:0042101)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	29						AAGGTGGAAGGGCCCCCAGGC	0.687																																						ENST00000264972.5																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	29						c.(1816-1818)gGg>gAg		zeta-chain (TCR) associated protein kinase 70kDa							44	41	42					2																	98355918		2203	4300	6503	SO:0001583	missense	7535				immune response|intracellular protein kinase cascade|positive thymic T cell selection|T cell receptor signaling pathway	cytosol|T cell receptor complex	ATP binding|non-membrane spanning protein tyrosine kinase activity	g.chr2:98355918G>A	L05148	CCDS33254.1, CCDS33255.1	2q11-q13	2014-09-17	2002-08-29		ENSG00000115085	ENSG00000115085		"SH2 domain containing"	12858	protein-coding gene	gene with protein product		176947	"zeta-chain (TCR) associated protein kinase (70 kD)"	SRK		1423621	Standard	NM_001079		Approved	ZAP-70, STD	uc002syd.1	P43403	OTTHUMG00000153060	ENST00000264972.5:c.1817G>A	2.37:g.98355918G>A	ENSP00000264972:p.Gly606Glu					ZAP70_ENST00000442208.1_Missense_Mutation_p.G480E|ZAP70_ENST00000451498.2_Missense_Mutation_p.G299E|ZAP70_ENST00000463643.1_3'UTR	p.G606E	NM_001079.3	NP_001070.2	P43403	ZAP70_HUMAN			14	2032	+			606					A6NFP4|Q6PIA4|Q8IXD6|Q9UBS6	Missense_Mutation	SNP	ENST00000264972.5	37	c.1817G>A	CCDS33254.1	.	.	.	.	.	.	.	.	.	.	G	10.83	1.461511	0.26248	.	.	ENSG00000115085	ENST00000264972;ENST00000442208;ENST00000451498	T;T;T	0.71341	-0.56;-0.56;-0.54	4.51	-2.79	0.05841	.	0.780519	0.10590	U	0.656921	T	0.39545	0.1082	N	0.14661	0.345	0.09310	N	1	B;B	0.14012	0.001;0.009	B;B	0.14023	0.002;0.01	T	0.34551	-0.9824	10	0.02654	T	1	.	1.9424	0.03349	0.21:0.2568:0.4036:0.1297	.	480;606	P43403-3;P43403	.;ZAP70_HUMAN	E	606;480;299	ENSP00000264972:G606E;ENSP00000411141:G480E;ENSP00000400475:G299E	ENSP00000264972:G606E	G	+	2	0	ZAP70	97722350	0.000000	0.05858	0.004000	0.12327	0.001000	0.01503	-0.323000	0.07997	-0.531000	0.06340	-0.165000	0.13383	GGG		0.687	ZAP70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329278.1			17	19	0	0	0	1	0	17	19					A	98355918	G	A	98355918	3	1	420	1	0	0	0	0	1	0	0	0	17511	1232	43	3	1863	3	ZAP70	2	98355918	Missense_Mutation	SNP	G	TCGA-VP-A87K-01A-11D-A34U-08	2095048	98355918	144843455	5	20326											
XIRP2	129446	broad.mit.edu	37	chr2	168067309	168067309	+	De_novo_Start_InFrame	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtgctgctcggggcgagggTgtgtcagacctccacgaagt	7	8	16	10	3	1	1	1	0	0	1	3	3	2	1	2	3	2	2	2	3	1	0			TCGA-VP-A87K-01A-11D-A34U-08	TCGA-VP-A87K-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd313ed-de0b-435e-864c-1169b729acaf	abe6e709-1d51-4e6b-92a2-7e5c49b553ab	g.chr2:168067309T>A	ENST00000409605.1	+	0	314				XIRP2_ENST00000409195.1_Silent_p.G209G|XIRP2_ENST00000295237.9_Silent_p.G209G|XIRP2_ENST00000409043.1_Silent_p.G209G|XIRP2_ENST00000409728.1_Silent_p.G242G|XIRP2_ENST00000420519.1_Silent_p.G242G|XIRP2_ENST00000409273.1_De_novo_Start_InFrame|XIRP2_ENST00000409756.2_Silent_p.G209G	NM_001199145.1	NP_001186074.1	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2						actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						GGGGCGAGGGTGTGTCAGACC	0.552																																						ENST00000409273.1																			0				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315								xin actin-binding repeat containing 2							122	130	127					2																	168067309		2078	4209	6287			129446				actin cytoskeleton organization	cell junction	actin binding	g.chr2:168067309T>A	AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"myomaxin"	609778	"cardiomyopathy associated 3"	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027		2.37:g.168067309T>A						XIRP2_ENST00000409756.2_Silent_p.G209G|XIRP2_ENST00000295237.9_Silent_p.G209G|XIRP2_ENST00000409043.1_Silent_p.G209G|XIRP2_ENST00000420519.1_Silent_p.G242G|XIRP2_ENST00000409195.1_Silent_p.G209G|XIRP2_ENST00000409728.1_Silent_p.G242G|XIRP2_ENST00000409605.1_De_novo_Start_InFrame		NM_001199144.1	NP_001186073.1	A4UGR9	XIRP2_HUMAN			0	314	+								A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Translation_Start_Site	SNP	ENST00000409605.1	37		CCDS56145.1																																																																																				0.552	XIRP2-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000333553.2	NM_152381		60	60	0	0	0	1	0	60	60					A	168067309	T	A	168067309	1	1	420	1	0	1	0	0	0	0	0	0	17427	1683	59	5		5	XIRP2	2	168067309	De_novo_Start_InFrame	SNP	T	TCGA-VP-A87K-01A-11D-A34U-08	69711391	168067309	75132064	6	20327											
STAT4	6775	broad.mit.edu	37	chr2	191897829	191897829	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcagcgaatggcagagcagaCaaccggcctttattgtaggg	11	8	13	9	2	1	2	1	0	0	2	1	3	1	2	2	3	3	3	2	3	4	4			TCGA-VP-A87K-01A-11D-A34U-08	TCGA-VP-A87K-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd313ed-de0b-435e-864c-1169b729acaf	abe6e709-1d51-4e6b-92a2-7e5c49b553ab	g.chr2:191897829C>A	ENST00000392320.2	-	21	2213	c.1899G>T	c.(1897-1899)ttG>ttT	p.L633F	STAT4_ENST00000358470.4_Missense_Mutation_p.L633F|AC067945.4_ENST00000456176.1_RNA	NM_003151.3	NP_003142.1	Q14765	STAT4_HUMAN	signal transducer and activator of transcription 4	633	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				cell proliferation (GO:0008283)|cytokine-mediated signaling pathway (GO:0019221)|JAK-STAT cascade (GO:0007259)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			breast(4)|endometrium(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.0864)|all cancers(119;0.204)			GCAGAGCAGACAACCGGCCTT	0.428																																						ENST00000392320.2																			0				breast(4)|endometrium(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	42						c.(1897-1899)ttG>ttT		signal transducer and activator of transcription 4							106	107	107					2																	191897829		2203	4300	6503	SO:0001583	missense	6775				JAK-STAT cascade	cytoplasm|nucleus	calcium ion binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr2:191897829C>A		CCDS2310.1	2q32.2-q32.3	2013-02-14			ENSG00000138378	ENSG00000138378		"SH2 domain containing"	11365	protein-coding gene	gene with protein product		600558				8007943, 8700208	Standard	NM_003151		Approved		uc002usn.2	Q14765	OTTHUMG00000132700	ENST00000392320.2:c.1899G>T	2.37:g.191897829C>A	ENSP00000376134:p.Leu633Phe					STAT4_ENST00000358470.4_Missense_Mutation_p.L633F	p.L633F	NM_003151.3	NP_003142.1	Q14765	STAT4_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.0864)|all cancers(119;0.204)		21	2213	-			633			SH2.		Q96NZ6	Missense_Mutation	SNP	ENST00000392320.2	37	c.1899G>T	CCDS2310.1	.	.	.	.	.	.	.	.	.	.	C	18.38	3.610605	0.66558	.	.	ENSG00000138378	ENST00000358470;ENST00000392320	D;D	0.97352	-4.35;-4.35	5.38	3.53	0.40419	SH2 motif (3);	0.000000	0.85682	D	0.000000	D	0.96984	0.9015	L	0.42581	1.335	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.96658	0.9487	10	0.87932	D	0	-25.1617	9.5199	0.39129	0.0:0.7465:0.0:0.2535	.	542;633;633	Q53S87;B4DV04;Q14765	.;.;STAT4_HUMAN	F	633	ENSP00000351255:L633F;ENSP00000376134:L633F	ENSP00000351255:L633F	L	-	3	2	STAT4	191606074	0.997000	0.39634	0.999000	0.59377	0.997000	0.91878	0.659000	0.24994	1.369000	0.46134	0.650000	0.86243	TTG		0.428	STAT4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335586.1	NM_003151		29	30	1	0	9.80776e-20	1	1.04727e-19	29	30					A	191897829	C	A	191897829	3	1	420	1	0	0	0	0	1	0	0	0	15266	477	17	5	363	5	STAT4	2	191897829	Missense_Mutation	SNP	C	TCGA-VP-A87K-01A-11D-A34U-08	23830520	191897829	51301544	7	20328											
SPEG	10290	broad.mit.edu	37	chr2	220357387	220357387	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctacctgatgaagctgcgccGccagacgctcaccttcacca	9	7	8	17	3	2	3	2	2	0	1	2	3	2	3	5	0	3	2	5	0	2	2			TCGA-VP-A87K-01A-11D-A34U-08	TCGA-VP-A87K-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd313ed-de0b-435e-864c-1169b729acaf	abe6e709-1d51-4e6b-92a2-7e5c49b553ab	g.chr2:220357387G>A	ENST00000312358.7	+	41	9815	c.9683G>A	c.(9682-9684)cGc>cAc	p.R3228H	AC053503.11_ENST00000429882.1_RNA|SPEG_ENST00000485813.1_3'UTR	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	3228					cardiac muscle cell development (GO:0055013)|in utero embryonic development (GO:0001701)|muscle organ development (GO:0007517)|negative regulation of cell proliferation (GO:0008285)|respiratory system development (GO:0060541)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		AAGCTGCGCCGCCAGACGCTC	0.692																																						ENST00000312358.7																			0				breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100						c.(9682-9684)cGc>cAc		SPEG complex locus							38	44	42					2																	220357387		2006	4144	6150	SO:0001583	missense	10290				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity	g.chr2:220357387G>A	BC006346	CCDS42824.1, CCDS54432.1	2q35	2013-01-11	2006-04-27	2006-04-27	ENSG00000072195	ENSG00000072195		"Immunoglobulin superfamily / I-set domain containing"	16901	protein-coding gene	gene with protein product		615950	"aortic preferentially expressed gene 1"	APEG1		8663449, 10973969	Standard	NM_005876		Approved	MGC12676, KIAA1297, SPEGalpha, SPEGbeta, BPEG	uc010fwg.3	Q15772	OTTHUMG00000058925	ENST00000312358.7:c.9683G>A	2.37:g.220357387G>A	ENSP00000311684:p.Arg3228His					AC053503.11_ENST00000429882.1_RNA|SPEG_ENST00000485813.1_3'UTR	p.R3228H	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)	41	9815	+		Renal(207;0.0183)	3228					A8K0G6|A8MRU0|Q27J74|Q695L1|Q6FGA6|Q6ZQW1|Q6ZTL8|Q9P2P9	Missense_Mutation	SNP	ENST00000312358.7	37	c.9683G>A	CCDS42824.1	.	.	.	.	.	.	.	.	.	.	G	34	5.344725	0.95807	.	.	ENSG00000072195	ENST00000312358	T	0.39997	1.05	4.53	4.53	0.55603	Protein kinase-like domain (1);	0.382752	0.19158	N	0.121261	T	0.51210	0.1661	N	0.19112	0.55	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.58295	-0.7661	10	0.72032	D	0.01	.	17.067	0.86562	0.0:0.0:1.0:0.0	.	3228	Q15772	SPEG_HUMAN	H	3228	ENSP00000311684:R3228H	ENSP00000311684:R3228H	R	+	2	0	SPEG	220065631	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.449000	0.97603	2.361000	0.80049	0.591000	0.81541	CGC		0.692	SPEG-004	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130252.2	NM_005876		6	61	0	0	0	1	0	6	61					A	220357387	G	A	220357387	3	1	420	1	0	0	0	0	1	0	0	0	15035	1087	38	1	9857	1	SPEG	2	220357387	Missense_Mutation	SNP	G	TCGA-VP-A87K-01A-11D-A34U-08	28459558	220357387	22841986	8	20329											
TRANK1	9881	broad.mit.edu	37	chr3	36872688	36872688	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cctggaaaggactgccacctCggaagctgccccctcaaacg	10	5	10	16	2	1	0	1	0	0	0	2	3	1	3	5	3	4	1	5	3	3	0			TCGA-VP-A87K-01A-11D-A34U-08	TCGA-VP-A87K-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd313ed-de0b-435e-864c-1169b729acaf	abe6e709-1d51-4e6b-92a2-7e5c49b553ab	g.chr3:36872688C>T	ENST00000429976.2	-	21	8501	c.8254G>A	c.(8254-8256)Gag>Aag	p.E2752K	TRANK1_ENST00000301807.6_Missense_Mutation_p.E2202K|TRANK1_ENST00000428977.2_Missense_Mutation_p.E2202K	NM_014831.2	NP_055646.2	O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	2752							ATP binding (GO:0005524)|hydrolase activity (GO:0016787)	p.E2752*(1)|p.E2195*(1)|p.E2202*(1)		NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						ACTGCCACCTCGGAAGCTGCC	0.557																																						ENST00000301807.6																			3	Substitution - Nonsense(3)	p.E2752*(1)|p.E2195*(1)|p.E2202*(1)	lung(3)	NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						c.(6604-6606)Gag>Aag		tetratricopeptide repeat and ankyrin repeat containing 1							78	78	78					3																	36872688		1993	4174	6167	SO:0001583	missense	9881				DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding	g.chr3:36872688C>T	AK096678	CCDS46789.1, CCDS46789.2	3p22.2	2013-01-11			ENSG00000168016	ENSG00000168016		"Ankyrin repeat domain containing", "Tetratricopeptide (TTC) repeat domain containing"	29011	protein-coding gene	gene with protein product	"lupus brain antigen 1", "KIAA0342"					9205841	Standard	NM_014831		Approved	LBA1, KIAA0342	uc003cgj.3	O15050	OTTHUMG00000155848	ENST00000429976.2:c.8254G>A	3.37:g.36872688C>T	ENSP00000416168:p.Glu2752Lys					TRANK1_ENST00000428977.2_Missense_Mutation_p.E2202K|TRANK1_ENST00000429976.2_Missense_Mutation_p.E2752K	p.E2202K	NM_014831.2	NP_055646.2	O15050	TRNK1_HUMAN			21	8501	-			2752					Q8N8K0	Missense_Mutation	SNP	ENST00000429976.2	37	c.6604G>A	CCDS46789.2	.	.	.	.	.	.	.	.	.	.	C	15.90	2.968168	0.53614	.	.	ENSG00000168016	ENST00000428977;ENST00000429976;ENST00000301807	T;T;T	0.37752	1.18;1.59;1.18	5.49	5.49	0.81192	.	0.106553	0.40469	N	0.001089	T	0.29028	0.0721	L	0.32530	0.975	0.36402	D	0.863178	P	0.46020	0.871	B	0.35859	0.212	T	0.40384	-0.9566	10	0.66056	D	0.02	.	17.9331	0.89004	0.0:1.0:0.0:0.0	.	2752	O15050	TRNK1_HUMAN	K	2202;2752;2202	ENSP00000416826:E2202K;ENSP00000416168:E2752K;ENSP00000301807:E2202K	ENSP00000301807:E2202K	E	-	1	0	TRANK1	36847692	0.142000	0.22610	0.197000	0.23402	0.026000	0.11368	5.038000	0.64177	2.756000	0.94617	0.561000	0.74099	GAG		0.557	TRANK1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_014831		33	50	0	0	0	1	0	33	50					T	36872688	C	T	36872688	3	4	420	1	0	0	0	0	1	0	0	0	16451	893	31	2	535	2	TRANK1	3	36872688	Missense_Mutation	SNP	C	TCGA-VP-A87K-01A-11D-A34U-08		36872688	161149742	9	20330											
POLQ	10721	broad.mit.edu	37	chr3	121248495	121248495	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttccatccataactcaccctCagcttgatgatgtagattat	11	14	5	11	0	2	3	2	2	0	1	4	3	4	3	3	0	2	2	3	0	3	5			TCGA-VP-A87K-01A-11D-A34U-08	TCGA-VP-A87K-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd313ed-de0b-435e-864c-1169b729acaf	abe6e709-1d51-4e6b-92a2-7e5c49b553ab	g.chr3:121248495C>T	ENST00000264233.5	-	7	1233	c.1105G>A	c.(1105-1107)Gag>Aag	p.E369K	POLQ_ENST00000488282.1_5'UTR	NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN	polymerase (DNA directed), theta	369	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)	nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|damaged DNA binding (GO:0003684)|DNA-directed DNA polymerase activity (GO:0003887)|single-stranded DNA-dependent ATPase activity (GO:0043142)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		AACTCACCCTCAGCTTGATGA	0.358								DNA polymerases (catalytic subunits)																													Pancreas(152;907 1925 26081 31236 36904)	ENST00000264233.5																			0				NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120						c.(1105-1107)Gag>Aag	DNA polymerases (catalytic subunits)	polymerase (DNA directed), theta							168	163	165					3																	121248495		2203	4300	6503	SO:0001583	missense	10721				DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity	g.chr3:121248495C>T	AF052573	CCDS33833.1	3q13.3	2012-05-18			ENSG00000051341	ENSG00000051341	2.7.7.7	"DNA polymerases"	9186	protein-coding gene	gene with protein product		604419				10395804	Standard	NM_199420		Approved	POLH	uc003eee.4	O75417	OTTHUMG00000159396	ENST00000264233.5:c.1105G>A	3.37:g.121248495C>T	ENSP00000264233:p.Glu369Lys					POLQ_ENST00000488282.1_5'UTR	p.E369K	NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN		GBM - Glioblastoma multiforme(114;0.0915)	7	1233	-			369			Helicase C-terminal.		O95160|Q6VMB5	Missense_Mutation	SNP	ENST00000264233.5	37	c.1105G>A	CCDS33833.1	.	.	.	.	.	.	.	.	.	.	C	7.173	0.587968	0.13812	.	.	ENSG00000051341	ENST00000264233;ENST00000393672	T	0.52057	0.68	5.29	3.48	0.39840	Helicase, C-terminal (1);	1.034350	0.07564	N	0.917502	T	0.39279	0.1072	L	0.41632	1.29	0.25038	N	0.991226	B	0.09022	0.002	B	0.06405	0.002	T	0.29518	-1.0009	10	0.25106	T	0.35	.	8.8329	0.35096	0.0:0.6401:0.2836:0.0763	.	369	O75417	DPOLQ_HUMAN	K	369;504	ENSP00000264233:E369K	ENSP00000264233:E369K	E	-	1	0	POLQ	122731185	.	.	0.378000	0.26068	0.575000	0.36095	.	.	0.595000	0.29777	-0.176000	0.13171	GAG		0.358	POLQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355097.1	NM_199420		4	103	0	0	0	1	0	4	103					T	121248495	C	T	121248495	3	4	420	1	0	0	0	0	1	0	0	0	12208	835	29	3	6763	3	POLQ	3	121248495	Missense_Mutation	SNP	C	TCGA-VP-A87K-01A-11D-A34U-08	84375807	121248495	76773935	10	20331											
MBD4	8930	broad.mit.edu	37	chr3	129155914	129155914	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aactctgaactactacttggCggcataaacacatccttttt	12	13	5	11	1	1	1	0	1	1	0	2	1	2	1	1	2	5	1	1	2	6	6	rs201684514		TCGA-VP-A87K-01A-11D-A34U-08	TCGA-VP-A87K-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd313ed-de0b-435e-864c-1169b729acaf	abe6e709-1d51-4e6b-92a2-7e5c49b553ab	g.chr3:129155914C>T	ENST00000249910.1	-	3	748	c.573G>A	c.(571-573)ccG>ccA	p.P191P	MBD4_ENST00000503197.1_Silent_p.P191P|MBD4_ENST00000393278.2_Intron|MBD4_ENST00000429544.2_Silent_p.P191P|MBD4_ENST00000507208.1_Silent_p.P191P|MBD4_ENST00000509587.1_Intron	NM_003925.1	NP_003916.1	O95243	MBD4_HUMAN	methyl-CpG binding domain protein 4	191					base-excision repair (GO:0006284)|base-excision repair, AP site formation (GO:0006285)|depyrimidination (GO:0045008)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|mitotic G2 DNA damage checkpoint (GO:0007095)|response to radiation (GO:0009314)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	endodeoxyribonuclease activity (GO:0004520)|pyrimidine-specific mismatch base pair DNA N-glycosylase activity (GO:0008263)|satellite DNA binding (GO:0003696)			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)	22						TACTACTTGGCGGCATAAACA	0.443								Base excision repair (BER), DNA glycosylases																														ENST00000429544.2																			0				NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)	22						c.(571-573)ccG>ccA	Base excision repair (BER), DNA glycosylases	methyl-CpG binding domain protein 4							146	154	151					3																	129155914		2203	4300	6503	SO:0001819	synonymous_variant	8930				depyrimidination	nucleoplasm	DNA N-glycosylase activity|endodeoxyribonuclease activity|protein binding|satellite DNA binding	g.chr3:129155914C>T	AF072250	CCDS3058.1, CCDS63766.1, CCDS63767.1, CCDS63768.1, CCDS63769.1	3q21.3	2004-03-02			ENSG00000129071	ENSG00000129071			6919	protein-coding gene	gene with protein product		603574				9774669, 10097147	Standard	NM_003925		Approved	MED1	uc003emh.2	O95243	OTTHUMG00000159463	ENST00000249910.1:c.573G>A	3.37:g.129155914C>T						MBD4_ENST00000393278.2_Intron|MBD4_ENST00000507208.1_Silent_p.P191P|MBD4_ENST00000503197.1_Silent_p.P191P|MBD4_ENST00000509587.1_Intron|MBD4_ENST00000249910.1_Silent_p.P191P	p.P191P	NM_001276270.1	NP_001263199.1	O95243	MBD4_HUMAN			3	768	-			191					B4DZN2|D3DNC3|D3DNC4|E9PEE4|Q2MD36|Q7Z4T3|Q96F09	Silent	SNP	ENST00000249910.1	37	c.573G>A	CCDS3058.1																																																																																				0.443	MBD4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000355529.1	NM_003925		6	165	0	0	0	1	0	6	165					T	129155914	C	T	129155914	2	4	420	1	0	0	0	0	0	0	0	1	9346	755	27	1		1	MBD4	3	129155914	Silent	SNP	C	TCGA-VP-A87K-01A-11D-A34U-08	7907419	129155914	68866516	11	20332											
FGFRL1	53834	broad.mit.edu	37	chr4	1019074	1019074	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccacacacacacacacacacActctcacacacactcacacg	16	3	1	21	1	2	0	2	0	1	0	3	0	2	0	1	0	0	0	1	0	0	0			TCGA-VP-A87K-01A-11D-A34U-08	TCGA-VP-A87K-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd313ed-de0b-435e-864c-1169b729acaf	abe6e709-1d51-4e6b-92a2-7e5c49b553ab	g.chr4:1019074A>T	ENST00000398484.2	+	8	2034	c.1454A>T	c.(1453-1455)cAc>cTc	p.H485L	FGFRL1_ENST00000510644.1_Missense_Mutation_p.H485L|FGFRL1_ENST00000504138.1_Missense_Mutation_p.H485L|RP11-460I19.2_ENST00000503095.1_lincRNA|FGFRL1_ENST00000264748.6_Missense_Mutation_p.H485L			Q8N441	FGRL1_HUMAN	fibroblast growth factor receptor-like 1	485	His-rich.				diaphragm development (GO:0060539)|heart valve morphogenesis (GO:0003179)|negative regulation of cell proliferation (GO:0008285)|skeletal system development (GO:0001501)|ventricular septum morphogenesis (GO:0060412)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	fibroblast growth factor-activated receptor activity (GO:0005007)|heparin binding (GO:0008201)			endometrium(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	13			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			acacacacacactctcacaca	0.607																																						ENST00000398484.2																			0				endometrium(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	13						c.(1453-1455)cAc>cTc		fibroblast growth factor receptor-like 1							12	15	14					4																	1019074		2176	4280	6456	SO:0001583	missense	53834				regulation of cell growth	integral to membrane|plasma membrane	fibroblast growth factor receptor activity|heparin binding	g.chr4:1019074A>T		CCDS3344.1	4p16	2013-01-11			ENSG00000127418	ENSG00000127418		"Immunoglobulin superfamily / I-set domain containing"	3693	protein-coding gene	gene with protein product		605830					Standard	NM_021923		Approved		uc003gcg.3	Q8N441	OTTHUMG00000118998	ENST00000398484.2:c.1454A>T	4.37:g.1019074A>T	ENSP00000381498:p.His485Leu					FGFRL1_ENST00000264748.6_Missense_Mutation_p.H485L|FGFRL1_ENST00000510644.1_Missense_Mutation_p.H485L|FGFRL1_ENST00000504138.1_Missense_Mutation_p.H485L	p.H485L			Q8N441	FGRL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.0158)		8	2034	+			485			His-rich.		B2RAU9|Q6PJN1|Q9BXN7|Q9H4D7	Missense_Mutation	SNP	ENST00000398484.2	37	c.1454A>T	CCDS3344.1	.	.	.	.	.	.	.	.	.	.	A	5.972	0.363242	0.11296	.	.	ENSG00000127418	ENST00000398484;ENST00000510644;ENST00000504138;ENST00000264748	T;T;T;T	0.74842	-0.88;-0.88;-0.88;-0.88	1.69	1.69	0.24217	.	0.000000	0.36002	N	0.002841	T	0.64249	0.2581	N	0.14661	0.345	0.23293	N	0.997964	D	0.71674	0.998	D	0.73708	0.981	T	0.59958	-0.7356	10	0.02654	T	1	.	5.4666	0.16646	1.0:0.0:0.0:0.0	.	485	Q8N441	FGRL1_HUMAN	L	485	ENSP00000381498:H485L;ENSP00000425025:H485L;ENSP00000423091:H485L;ENSP00000264748:H485L	ENSP00000264748:H485L	H	+	2	0	FGFRL1	1009074	1.000000	0.71417	0.945000	0.38365	0.977000	0.68977	6.796000	0.75145	1.039000	0.40074	0.533000	0.62120	CAC		0.607	FGFRL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239195.2	NM_021923		3	16	0	0	0	1	0	3	16					T	1019074	A	T	1019074	3	4	420	1	0	0	0	0	1	0	0	0	5869	159	6	5	1476	5	FGFRL1	4	1019074	Missense_Mutation	SNP	A	TCGA-VP-A87K-01A-11D-A34U-08		1019074	190135202	12	20333											
SEL1L3	23231	broad.mit.edu	37	chr4	25785888	25785888	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catcagctctaaggcaagccGtctgttcttttttactcctt	7	16	6	12	1	4	0	1	0	3	0	5	0	5	0	2	1	3	3	2	1	3	6	rs372755436		TCGA-VP-A87K-01A-11D-A34U-08	TCGA-VP-A87K-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd313ed-de0b-435e-864c-1169b729acaf	abe6e709-1d51-4e6b-92a2-7e5c49b553ab	g.chr4:25785888G>C	ENST00000399878.3	-	14	2364	c.2242C>G	c.(2242-2244)Cgg>Ggg	p.R748G	SEL1L3_ENST00000264868.5_Missense_Mutation_p.R713G|SEL1L3_ENST00000502949.1_Missense_Mutation_p.R595G	NM_015187.3	NP_056002.2	Q68CR1	SE1L3_HUMAN	sel-1 suppressor of lin-12-like 3 (C. elegans)	748						integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(2)	14						AAGGCAAGCCGTCTGTTCTTT	0.438																																						ENST00000399878.3																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(2)	14						c.(2242-2244)Cgg>Ggg		sel-1 suppressor of lin-12-like 3 (C. elegans)							238	232	234					4																	25785888		1980	4155	6135	SO:0001583	missense	23231					integral to membrane	binding	g.chr4:25785888G>C	BC009945	CCDS47037.1, CCDS75113.1	4p15.2	2009-09-24			ENSG00000091490	ENSG00000091490			29108	protein-coding gene	gene with protein product	"KIAA0746 protein"					9872452	Standard	XM_005248143		Approved	KIAA0746	uc003gru.4	Q68CR1	OTTHUMG00000160331	ENST00000399878.3:c.2242C>G	4.37:g.25785888G>C	ENSP00000382767:p.Arg748Gly					SEL1L3_ENST00000264868.5_Missense_Mutation_p.R713G|SEL1L3_ENST00000502949.1_Missense_Mutation_p.R595G	p.R748G	NM_015187.3	NP_056002.2	Q68CR1	SE1L3_HUMAN			14	2364	-			748					A0PJH6|A8K0X2|O94847|Q6P999|Q96G59	Missense_Mutation	SNP	ENST00000399878.3	37	c.2242C>G	CCDS47037.1	.	.	.	.	.	.	.	.	.	.	G	14.09	2.432892	0.43224	.	.	ENSG00000091490	ENST00000399878;ENST00000264868;ENST00000502949	T;T;T	0.50813	0.73;0.73;0.73	5.58	3.65	0.41850	Tetratricopeptide-like helical (1);	0.376195	0.27362	N	0.019715	T	0.34395	0.0896	N	0.14661	0.345	0.33505	D	0.590385	B;P	0.42908	0.181;0.793	B;P	0.44696	0.223;0.458	T	0.48714	-0.9011	10	0.34782	T	0.22	-13.5142	11.8596	0.52459	0.0:0.0:0.4266:0.5734	.	155;748	B4DTH5;Q68CR1	.;SE1L3_HUMAN	G	748;713;595	ENSP00000382767:R748G;ENSP00000264868:R713G;ENSP00000425438:R595G	ENSP00000264868:R713G	R	-	1	2	SEL1L3	25394986	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.109000	0.41863	1.348000	0.45733	0.555000	0.69702	CGG		0.438	SEL1L3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360261.1	NM_015187		93	141	0	0	0	1	0	93	141					C	25785888	G	C	25785888	3	2	420	1	0	0	0	0	1	0	0	0	14012	1144	40	5	1200	5	SEL1L3	4	25785888	Missense_Mutation	SNP	G	TCGA-VP-A87K-01A-11D-A34U-08	24766814	25785888	165368388	13	20334											
MAD2L1	4085	broad.mit.edu	37	chr4	120982089	120982089	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gatctgtctgatcactgaacGgatttcatcctggatagctt	9	14	9	9	1	4	2	2	2	2	0	5	5	5	4	1	2	2	1	1	2	2	3			TCGA-VP-A87K-01A-11D-A34U-08	TCGA-VP-A87K-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd313ed-de0b-435e-864c-1169b729acaf	abe6e709-1d51-4e6b-92a2-7e5c49b553ab	g.chr4:120982089G>A	ENST00000296509.6	-	4	724	c.385C>T	c.(385-387)Cgt>Tgt	p.R129C		NM_002358.3	NP_002349.1	Q13257	MD2L1_HUMAN	MAD2 mitotic arrest deficient-like 1 (yeast)	129	HORMA. {ECO:0000255|PROSITE- ProRule:PRU00109}.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic sister chromatid segregation (GO:0000070)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of apoptotic process (GO:0043066)|negative regulation of mitotic anaphase-promoting complex activity (GO:0060564)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090267)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	cytosol (GO:0005829)|kinetochore (GO:0000776)|mitotic spindle (GO:0072686)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|spindle pole (GO:0000922)	identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)			breast(2)|kidney(2)|large_intestine(2)|lung(3)	9						ATCACTGAACGGATTTCATCC	0.343																																						ENST00000296509.5																			0				breast(2)|kidney(2)|large_intestine(2)|lung(3)	9						c.(385-387)Cgt>Tgt		MAD2 mitotic arrest deficient-like 1 (yeast)							67	66	66					4																	120982089		2203	4300	6503	SO:0001583	missense	4085				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|negative regulation of apoptosis|negative regulation of mitotic anaphase-promoting complex activity|positive regulation of mitotic cell cycle spindle assembly checkpoint	condensed chromosome kinetochore|cytosol|nucleus|perinuclear region of cytoplasm	protein homodimerization activity	g.chr4:120982089G>A	U65410	CCDS3715.1	4q27	2013-01-17	2001-11-28		ENSG00000164109	ENSG00000164109			6763	protein-coding gene	gene with protein product		601467	"MAD2 (mitotic arrest deficient, yeast, homolog)-like 1"			8824189, 9345911	Standard	NM_002358		Approved	MAD2, HSMAD2	uc003idl.2	Q13257	OTTHUMG00000132967	ENST00000296509.6:c.385C>T	4.37:g.120982089G>A	ENSP00000296509:p.Arg129Cys						p.R129C	NM_002358.3	NP_002349.1	Q13257	MD2L1_HUMAN			4	724	-			129			HORMA.		Q53F56|Q548X9|Q6IRW7|Q8IZX3	Missense_Mutation	SNP	ENST00000296509.6	37	c.385C>T	CCDS3715.1	.	.	.	.	.	.	.	.	.	.	G	17.07	3.295762	0.60086	.	.	ENSG00000164109	ENST00000296509	.	.	.	5.16	5.16	0.70880	DNA-binding HORMA (4);	0.057957	0.64402	N	0.000001	T	0.60894	0.2304	M	0.69358	2.11	0.80722	D	1	B	0.26902	0.163	B	0.19391	0.025	T	0.63765	-0.6563	9	0.87932	D	0	-1.7817	14.7082	0.69208	0.0:0.0:0.8544:0.1455	.	129	Q13257	MD2L1_HUMAN	C	129	.	ENSP00000296509:R129C	R	-	1	0	MAD2L1	121201537	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.162000	0.77515	2.547000	0.85894	0.561000	0.74099	CGT		0.343	MAD2L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256525.2			19	19	0	0	0	1	0	19	19					A	120982089	G	A	120982089	3	1	420	1	0	0	0	0	1	0	0	0	9148	1116	39	2	240	2	MAD2L1	4	120982089	Missense_Mutation	SNP	G	TCGA-VP-A87K-01A-11D-A34U-08	95196201	120982089	70172187	14	20335											
EDNRA	1909	broad.mit.edu	37	chr4	148453712	148453712	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggaattgggattcctttggtAactgccattgaaattgtctc	9	15	10	7	0	1	1	0	1	1	0	3	3	2	3	2	3	2	1	2	3	3	6			TCGA-VP-A87K-01A-11D-A34U-08	TCGA-VP-A87K-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd313ed-de0b-435e-864c-1169b729acaf	abe6e709-1d51-4e6b-92a2-7e5c49b553ab	g.chr4:148453712A>G	ENST00000324300.5	+	4	1118	c.603A>G	c.(601-603)gtA>gtG	p.V201V	EDNRA_ENST00000339690.5_Missense_Mutation_p.N159D|EDNRA_ENST00000358556.4_Intron|EDNRA_ENST00000503721.1_3'UTR|EDNRA_ENST00000506066.1_Intron|EDNRA_ENST00000511804.1_5'UTR	NM_001957.3	NP_001948.1	P25101	EDNRA_HUMAN	endothelin receptor type A	201					activation of adenylate cyclase activity (GO:0007190)|activation of phospholipase C activity (GO:0007202)|aging (GO:0007568)|artery smooth muscle contraction (GO:0014824)|cell proliferation (GO:0008283)|cellular response to mechanical stimulus (GO:0071260)|endothelin receptor signaling pathway (GO:0086100)|enteric nervous system development (GO:0048484)|fibroblast proliferation (GO:0048144)|G-protein coupled receptor signaling pathway (GO:0007186)|glomerular filtration (GO:0003094)|glucose transport (GO:0015758)|head development (GO:0060322)|heart development (GO:0007507)|histamine secretion (GO:0001821)|in utero embryonic development (GO:0001701)|maternal process involved in parturition (GO:0060137)|metabolic process (GO:0008152)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cAMP biosynthetic process (GO:0030818)|neural crest cell development (GO:0014032)|patterning of blood vessels (GO:0001569)|penile erection (GO:0043084)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of inflammatory response (GO:0050729)|positive regulation of kidney development (GO:0090184)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of odontogenesis (GO:0042482)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of blood pressure (GO:0008217)|regulation of epithelial cell proliferation (GO:0050678)|respiratory gaseous exchange (GO:0007585)|response to hypoxia (GO:0001666)|response to lipopolysaccharide (GO:0032496)|response to morphine (GO:0043278)|Rho protein signal transduction (GO:0007266)|sensory perception of pain (GO:0019233)|signal transduction (GO:0007165)|smooth muscle cell proliferation (GO:0048659)|smooth muscle contraction (GO:0006939)|vasoconstriction (GO:0042310)	integral component of plasma membrane (GO:0005887)|nuclear membrane (GO:0031965)|plasma membrane (GO:0005886)|T-tubule (GO:0030315)	endothelin receptor activity (GO:0004962)|phosphatidylinositol phospholipase C activity (GO:0004435)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(3)|ovary(1)	17	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.154)	Acetylsalicylic acid(DB00945)|Bosentan(DB00559)|MACITENTAN(DB08932)|Sitaxentan(DB06268)	TTCCTTTGGTAACTGCCATTG	0.443																																						ENST00000339690.5																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(3)|ovary(1)	17						c.(475-477)Aac>Gac		endothelin receptor type A	Bosentan(DB00559)						183	167	172					4																	148453712		2203	4300	6503	SO:0001819	synonymous_variant	1909				activation of adenylate cyclase activity|artery smooth muscle contraction|cell proliferation|glucose transport|respiratory gaseous exchange	integral to plasma membrane	endothelin-A receptor activity|phosphatidylinositol phospholipase C activity	g.chr4:148453712A>G	D90348	CCDS3769.1, CCDS54810.1, CCDS58927.1	4q31.22	2013-09-20			ENSG00000151617	ENSG00000151617		"GPCR / Class A : Endothelin receptors"	3179	protein-coding gene	gene with protein product		131243				1659806	Standard	NM_001957		Approved		uc003iky.3	P25101	OTTHUMG00000161354	ENST00000324300.5:c.603A>G	4.37:g.148453712A>G						EDNRA_ENST00000358556.4_Intron|EDNRA_ENST00000506066.1_Intron|EDNRA_ENST00000324300.5_Silent_p.V201V|EDNRA_ENST00000503721.1_3'UTR|EDNRA_ENST00000511804.1_5'UTR	p.N159D			P25101	EDNRA_HUMAN		GBM - Glioblastoma multiforme(119;0.154)	3	1005	+	all_hematologic(180;0.151)		0					B2R723|B4E2V6|B7Z9G6|D3DP03|E7ER36|O43441|Q16432|Q16433|Q8TBH2	Missense_Mutation	SNP	ENST00000324300.5	37	c.475A>G	CCDS3769.1	.	.	.	.	.	.	.	.	.	.	A	7.166	0.586713	0.13749	.	.	ENSG00000151617	ENST00000339690	D	0.81579	-1.51	5.55	1.33	0.21861	.	.	.	.	.	T	0.59810	0.2221	.	.	.	0.23023	N	0.99842	B	0.02656	0.0	B	0.01281	0.0	T	0.37126	-0.9719	8	0.07325	T	0.83	-14.723	9.5744	0.39447	0.153:0.7434:0.0:0.1036	.	159	P25101-2	.	D	159	ENSP00000341556:N159D	ENSP00000341556:N159D	N	+	1	0	EDNRA	148673162	0.759000	0.28416	0.993000	0.49108	0.948000	0.59901	-0.162000	0.10012	-0.075000	0.12798	-1.329000	0.01275	AAC		0.443	EDNRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364635.1			55	90	0	0	0	1	0	55	90					G	148453712	A	G	148453712	2	3	420	1	0	0	0	0	0	0	0	1	4919	349	13	4		4	EDNRA	4	148453712	Silent	SNP	A	TCGA-VP-A87K-01A-11D-A34U-08	27471623	148453712	42700564	15	20336											
FSTL5	56884	broad.mit.edu	37	chr4	162307448	162307448	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gctccggtgctgtcaggtttGcagccaatgaagtagtagcc	8	10	13	10	1	1	1	1	1	0	0	2	1	2	1	3	2	4	6	3	2	4	3			TCGA-VP-A87K-01A-11D-A34U-08	TCGA-VP-A87K-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd313ed-de0b-435e-864c-1169b729acaf	abe6e709-1d51-4e6b-92a2-7e5c49b553ab	g.chr4:162307448G>A	ENST00000306100.5	-	16	2431	c.1995C>T	c.(1993-1995)tgC>tgT	p.C665C	FSTL5_ENST00000427802.2_Silent_p.C655C|FSTL5_ENST00000379164.4_Silent_p.C664C|FSTL5_ENST00000536695.1_Silent_p.C664C|RP11-234O6.2_ENST00000508189.1_RNA	NM_001128427.2|NM_020116.4	NP_001121899.1|NP_064501.2	Q8N475	FSTL5_HUMAN	follistatin-like 5	665						extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		TGTCAGGTTTGCAGCCAATGA	0.468																																						ENST00000306100.5																			0				central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91						c.(1993-1995)tgC>tgT		follistatin-like 5							97	89	92					4																	162307448		2203	4300	6503	SO:0001819	synonymous_variant	56884					extracellular region	calcium ion binding	g.chr4:162307448G>A	BC036502	CCDS3802.1, CCDS47157.1, CCDS47158.1	4q32.3	2013-01-11			ENSG00000168843	ENSG00000168843		"EF-hand domain containing", "Immunoglobulin superfamily / I-set domain containing"	21386	protein-coding gene	gene with protein product						10574462, 15527507	Standard	NM_020116		Approved	DKFZp566D234, KIAA1263	uc003iqh.4	Q8N475	OTTHUMG00000161397	ENST00000306100.5:c.1995C>T	4.37:g.162307448G>A						RP11-234O6.2_ENST00000508189.1_RNA|FSTL5_ENST00000379164.4_Silent_p.C664C|FSTL5_ENST00000427802.2_Silent_p.C655C|FSTL5_ENST00000536695.1_Silent_p.C664C	p.C665C	NM_001128427.2|NM_020116.4	NP_001121899.1|NP_064501.2	Q8N475	FSTL5_HUMAN		COAD - Colon adenocarcinoma(41;0.179)	16	2431	-	all_hematologic(180;0.24)		665					E9PCP6|Q9NSW7|Q9ULF7	Silent	SNP	ENST00000306100.5	37	c.1995C>T	CCDS3802.1																																																																																				0.468	FSTL5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364773.2	NM_020116		4	72	0	0	0	1	0	4	72					A	162307448	G	A	162307448	2	1	420	1	0	0	0	0	0	0	0	1	6080	1311	46	3		3	FSTL5	4	162307448	Silent	SNP	G	TCGA-VP-A87K-01A-11D-A34U-08	13853736	162307448	28846828	16	20337											
PCDHA8	56140	broad.mit.edu	37	chr5	140221009	140221009	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcggccagctccactactccGtccccgaggaggccaaacac	9	4	10	18	3	0	0	0	0	0	0	3	2	3	1	6	3	3	1	6	3	2	1			TCGA-VP-A87K-01A-11D-A34U-08	TCGA-VP-A87K-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd313ed-de0b-435e-864c-1169b729acaf	abe6e709-1d51-4e6b-92a2-7e5c49b553ab	g.chr5:140221009G>A	ENST00000531613.1	+	1	103	c.103G>A	c.(103-105)Gtc>Atc	p.V35I	PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA8_ENST00000378123.3_Missense_Mutation_p.V35I|PCDHA4_ENST00000512229.2_Intron	NM_018911.2	NP_061734.1	Q9Y5H6	PCDA8_HUMAN	protocadherin alpha 8	35	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.V35I(2)		NS(2)|breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(31)|ovary(2)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(6)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCACTACTCCGTCCCCGAGGA	0.672																																						ENST00000531613.1																			2	Substitution - Missense(2)	p.V35I(2)	haematopoietic_and_lymphoid_tissue(2)	NS(2)|breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(31)|ovary(2)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(6)	78						c.(103-105)Gtc>Atc									52	56	55					5																	140221009		2203	4299	6502	SO:0001583	missense	0							g.chr5:140221009G>A	AF152486	CCDS54919.1	5q31	2010-11-26				ENSG00000204962		"Cadherins / Protocadherins : Clustered"	8674	other	complex locus constituent	"KIAA0345-like 6"	606314				10380929	Standard	NM_018911		Approved			Q9Y5H6		ENST00000531613.1:c.103G>A	5.37:g.140221009G>A	ENSP00000434655:p.Val35Ile					PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA8_ENST00000378123.3_Missense_Mutation_p.V35I	p.V35I	NM_018911.2	NP_061734.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	103	+								B9EGT7|O75281	Missense_Mutation	SNP	ENST00000531613.1	37	c.103G>A	CCDS54919.1	.	.	.	.	.	.	.	.	.	.	G	1.642	-0.516156	0.04200	.	.	ENSG00000204962	ENST00000531613;ENST00000378123	T;T	0.35789	1.29;1.29	3.95	2.1	0.27182	Cadherin, N-terminal (1);Cadherin (2);Cadherin-like (1);	0.000000	0.33199	U	0.005170	T	0.19127	0.0459	L	0.28694	0.88	0.09310	N	1	P;P	0.40578	0.637;0.722	B;B	0.31016	0.123;0.075	T	0.10730	-1.0617	10	0.32370	T	0.25	.	7.8536	0.29470	0.2672:0.0:0.7328:0.0	.	35;35	Q9Y5H6;Q9Y5H6-2	PCDA8_HUMAN;.	I	35	ENSP00000434655:V35I;ENSP00000367363:V35I	ENSP00000367363:V35I	V	+	1	0	PCDHA8	140201193	0.000000	0.05858	0.003000	0.11579	0.017000	0.09413	-0.371000	0.07513	0.243000	0.21327	0.557000	0.71058	GTC		0.672	PCDHA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372830.2	NM_018911		6	94	0	0	0	1	0	6	94					A	140221009	G	A	140221009	3	1	420	1	0	0	0	0	1	0	0	0	11530	1145	40	1	105	1	PCDHA8	5	140221009	Missense_Mutation	SNP	G	TCGA-VP-A87K-01A-11D-A34U-08		140221009	40694251	17	20338											
PGK2	5232	broad.mit.edu	37	chr6	49754849	49754849	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtctactctcatgatgactcGcttccctctaacatccagtt	8	14	5	14	1	3	2	1	2	3	0	7	2	5	2	2	0	2	2	2	0	2	4			TCGA-VP-A87K-01A-11D-A34U-08	TCGA-VP-A87K-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd313ed-de0b-435e-864c-1169b729acaf	abe6e709-1d51-4e6b-92a2-7e5c49b553ab	g.chr6:49754849G>A	ENST00000304801.3	-	1	204	c.52C>T	c.(52-54)Cga>Tga	p.R18*		NM_138733.4	NP_620061.2	P07205	PGK2_HUMAN	phosphoglycerate kinase 2	18					glycolytic process (GO:0006096)|phosphorylation (GO:0016310)|sperm motility (GO:0030317)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|sperm fibrous sheath (GO:0035686)	ATP binding (GO:0005524)|phosphoglycerate kinase activity (GO:0004618)			autonomic_ganglia(1)|endometrium(3)|large_intestine(12)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	47	Lung NSC(77;0.0402)					ATGATGACTCGCTTCCCTCTA	0.413																																						ENST00000304801.3																			0				autonomic_ganglia(1)|endometrium(3)|large_intestine(12)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	47						c.(52-54)Cga>Tga		phosphoglycerate kinase 2							163	150	155					6																	49754849		2203	4300	6503	SO:0001587	stop_gained	5232				glycolysis	cytosol	ATP binding|phosphoglycerate kinase activity	g.chr6:49754849G>A	K03019	CCDS4930.1	6p12.3	2012-09-20		2002-04-19	ENSG00000170950	ENSG00000170950			8898	protein-coding gene	gene with protein product		172270				3839763, 3453121	Standard	NM_138733		Approved	PGKPS, PGK-2	uc003ozu.3	P07205	OTTHUMG00000014824	ENST00000304801.3:c.52C>T	6.37:g.49754849G>A	ENSP00000305995:p.Arg18*						p.R18*	NM_138733.4	NP_620061.2	P07205	PGK2_HUMAN			1	204	-	Lung NSC(77;0.0402)		18					B2R6Y8|Q9H107	Nonsense_Mutation	SNP	ENST00000304801.3	37	c.52C>T	CCDS4930.1	.	.	.	.	.	.	.	.	.	.	G	36	5.774501	0.96922	.	.	ENSG00000170950	ENST00000304801	.	.	.	4.9	1.89	0.25635	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-10.7804	12.2251	0.54455	0.0:0.0:0.5583:0.4417	.	.	.	.	X	18	.	ENSP00000305995:R18X	R	-	1	2	PGK2	49862808	0.955000	0.32602	0.480000	0.27341	0.995000	0.86356	1.509000	0.35780	0.240000	0.21263	0.650000	0.86243	CGA		0.413	PGK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040872.1			20	111	0	0	0	1	0	20	111					A	49754849	G	A	49754849	4	1	420	1	0	0	0	0	0	1	0	0	11791	1095	38	1	1205	1	PGK2	6	49754849	Nonsense_Mutation	SNP	G	TCGA-VP-A87K-01A-11D-A34U-08		49754849	121360218	18	20339											
SEC63	11231	broad.mit.edu	37	chr6	108214759	108214759	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atagcacaggtgtaggttttTtttttaaaggtttctttttt	8	22	8	3	0	1	0	0	0	1	0	1	0	1	0	0	3	1	4	0	3	4	11	rs371342202		TCGA-VP-A87K-01A-11D-A34U-08	TCGA-VP-A87K-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd313ed-de0b-435e-864c-1169b729acaf	abe6e709-1d51-4e6b-92a2-7e5c49b553ab	g.chr6:108214759T>G	ENST00000369002.4	-	16	1780	c.1601A>C	c.(1600-1602)aAa>aCa	p.K534T		NM_007214.4	NP_009145.1	Q9UGP8	SEC63_HUMAN	SEC63 homolog (S. cerevisiae)	534	SEC63 1.				liver development (GO:0001889)|multicellular organismal aging (GO:0010259)|nitrogen compound metabolic process (GO:0006807)|posttranslational protein targeting to membrane (GO:0006620)|posttranslational protein targeting to membrane, translocation (GO:0031204)|protein targeting to membrane (GO:0006612)|renal system development (GO:0072001)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|protein transporter activity (GO:0008565)|receptor activity (GO:0004872)			endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		all_cancers(87;5.35e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00225)|Colorectal(196;0.0294)		BRCA - Breast invasive adenocarcinoma(108;0.0079)|Epithelial(106;0.0356)|all cancers(137;0.0525)|OV - Ovarian serous cystadenocarcinoma(136;0.054)		TGTAGGTTTTTTTTTTAAAGG	0.358																																						ENST00000369002.4																			0				endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(1600-1602)aAa>aCa		SEC63 homolog (S. cerevisiae)							112	117	115					6																	108214759		2202	4300	6502	SO:0001583	missense	11231				protein folding|protein targeting to membrane	endoplasmic reticulum membrane|integral to membrane	heat shock protein binding|receptor activity|unfolded protein binding	g.chr6:108214759T>G	BC048287	CCDS5061.1	6q21	2011-09-05	2006-09-12		ENSG00000025796	ENSG00000025796		"Heat shock proteins / DNAJ (HSP40)"	21082	protein-coding gene	gene with protein product		608648	"SEC63-like (S. cerevisiae)"			10219736, 10543453	Standard	NM_007214		Approved	SEC63L, PRO2507, ERdj2, DNAJC23	uc003psc.4	Q9UGP8	OTTHUMG00000015316	ENST00000369002.4:c.1601A>C	6.37:g.108214759T>G	ENSP00000357998:p.Lys534Thr						p.K534T	NM_007214.4	NP_009145.1	Q9UGP8	SEC63_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0079)|Epithelial(106;0.0356)|all cancers(137;0.0525)|OV - Ovarian serous cystadenocarcinoma(136;0.054)	16	1780	-		all_cancers(87;5.35e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00225)|Colorectal(196;0.0294)	534			SEC63 1.		O95380|Q5THN4|Q86VS9|Q8IWL0|Q9NTE0	Missense_Mutation	SNP	ENST00000369002.4	37	c.1601A>C	CCDS5061.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	21.8|21.8	4.205077|4.205077	0.79127|0.79127	.|.	.|.	ENSG00000025796|ENSG00000025796	ENST00000423697|ENST00000369002;ENST00000437345	.|T	.|0.64085	.|-0.08	5.38|5.38	5.38|5.38	0.77491|0.77491	.|Sec63 domain (2);	0.000000|0.000000	0.85682|0.85682	D|D	0.000000|0.000000	T|T	0.58481|0.58481	0.2125|0.2125	L|L	0.29908|0.29908	0.895|0.895	0.80722|0.80722	D|D	1|1	.|P;D	.|0.76494	.|0.854;0.999	.|B;D	.|0.85130	.|0.288;0.997	T|T	0.56366|0.56366	-0.7991|-0.7991	7|10	0.52906|0.18710	T|T	0.07|0.47	-22.8162|-22.8162	15.6841|15.6841	0.77396|0.77396	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|534;534	.|Q9UGP8;B3KQF0	.|SEC63_HUMAN;.	N|T	393|534;185	.|ENSP00000357998:K534T	ENSP00000394572:K393N|ENSP00000357998:K534T	K|K	-|-	3|2	2|0	SEC63|SEC63	108321452|108321452	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.970000|0.970000	0.65996|0.65996	5.934000|5.934000	0.70138|0.70138	2.162000|2.162000	0.67917|0.67917	0.460000|0.460000	0.39030|0.39030	AAA|AAA		0.358	SEC63-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041705.4	NM_007214		73	84	0	0	0	1	0	73	84					G	108214759	T	G	108214759	3	3	420	1	0	0	0	0	1	0	0	0	14005	1841	64	5	705	5	SEC63	6	108214759	Missense_Mutation	SNP	T	TCGA-VP-A87K-01A-11D-A34U-08	58459910	108214759	62900308	19	20340											
ABCA13	154664	broad.mit.edu	37	chr7	48314144	48314144	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcacctgaaataatgaaagcTacaggtcttggtattcaact	14	12	7	8	0	3	2	2	2	1	0	3	2	3	2	1	2	3	2	1	2	6	5			TCGA-VP-A87K-01A-11D-A34U-08	TCGA-VP-A87K-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd313ed-de0b-435e-864c-1169b729acaf	abe6e709-1d51-4e6b-92a2-7e5c49b553ab	g.chr7:48314144T>C	ENST00000435803.1	+	17	4905	c.4881T>C	c.(4879-4881)gcT>gcC	p.A1627A		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	1627					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						TAATGAAAGCTACAGGTCTTG	0.368																																						ENST00000435803.1																			0				breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						c.(4879-4881)gcT>gcC		ATP-binding cassette, sub-family A (ABC1), member 13							167	163	164					7																	48314144		1861	4090	5951	SO:0001819	synonymous_variant	154664				transport	integral to membrane	ATP binding|ATPase activity	g.chr7:48314144T>C	AY204751	CCDS47584.1	7p12.3	2012-03-14			ENSG00000179869	ENSG00000179869		"ATP binding cassette transporters / subfamily A"	14638	protein-coding gene	gene with protein product		607807				12697998	Standard	NM_152701		Approved	FLJ33876, FLJ33951	uc003toq.2	Q86UQ4	OTTHUMG00000155840	ENST00000435803.1:c.4881T>C	7.37:g.48314144T>C							p.A1627A	NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN			17	4905	+			1627					K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Silent	SNP	ENST00000435803.1	37	c.4881T>C	CCDS47584.1																																																																																				0.368	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341964.2	NM_152701		68	84	0	0	0	1	0	68	84					C	48314144	T	C	48314144	2	2	420	1	0	0	0	0	0	0	0	1	31	1509	53	4		4	ABCA13	7	48314144	Silent	SNP	T	TCGA-VP-A87K-01A-11D-A34U-08		48314144	110824519	20	20341											
KCND2	3751	broad.mit.edu	37	chr7	120385852	120385852	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agaatcacgagtttgtggacGaacaagtctttgaagaaagc	15	9	11	6	2	2	3	1	1	1	2	2	6	2	4	0	1	2	1	0	1	5	2			TCGA-VP-A87K-01A-11D-A34U-08	TCGA-VP-A87K-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd313ed-de0b-435e-864c-1169b729acaf	abe6e709-1d51-4e6b-92a2-7e5c49b553ab	g.chr7:120385852G>A	ENST00000331113.4	+	5	2451	c.1486G>A	c.(1486-1488)Gaa>Aaa	p.E496K	RP4-797C5.2_ENST00000450480.1_RNA	NM_012281.2	NP_036413.1	Q9NZV8	KCND2_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 2	496					action potential (GO:0001508)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	dendritic spine (GO:0043197)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	A-type (transient outward) potassium channel activity (GO:0005250)|metal ion binding (GO:0046872)|voltage-gated potassium channel activity (GO:0005249)			NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(35)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	75	all_neural(327;0.117)				Amitriptyline(DB00321)|Dalfampridine(DB06637)|Disopyramide(DB00280)|Imipramine(DB00458)	GTTTGTGGACGAACAAGTCTT	0.388																																						ENST00000331113.4																			0				NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(35)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	75						c.(1486-1488)Gaa>Aaa		potassium voltage-gated channel, Shal-related subfamily, member 2							91	83	86					7																	120385852		2203	4300	6503	SO:0001583	missense	3751				regulation of action potential|synaptic transmission	cell surface|dendritic spine	metal ion binding	g.chr7:120385852G>A	AJ010969	CCDS5776.1	7q31	2012-07-05			ENSG00000184408	ENSG00000184408		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6238	protein-coding gene	gene with protein product		605410				10551270, 16382104	Standard	NM_012281		Approved	Kv4.2, RK5, KIAA1044	uc003vjj.1	Q9NZV8	OTTHUMG00000156989	ENST00000331113.4:c.1486G>A	7.37:g.120385852G>A	ENSP00000333496:p.Glu496Lys						p.E496K	NM_012281.2	NP_036413.1	Q9NZV8	KCND2_HUMAN			5	2451	+	all_neural(327;0.117)		496					O95012|O95021|Q2TBD3|Q9UBY7|Q9UN98|Q9UNH9	Missense_Mutation	SNP	ENST00000331113.4	37	c.1486G>A	CCDS5776.1	.	.	.	.	.	.	.	.	.	.	G	35	5.471368	0.96274	.	.	ENSG00000184408	ENST00000331113	D	0.84660	-1.88	5.9	5.9	0.94986	Potassium channel, voltage dependent, Kv4, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.87438	0.6177	M	0.69358	2.11	0.58432	D	0.999994	P	0.51791	0.948	P	0.46659	0.523	D	0.86453	0.1774	9	.	.	.	.	20.2789	0.98501	0.0:0.0:1.0:0.0	.	496	Q9NZV8	KCND2_HUMAN	K	496	ENSP00000333496:E496K	.	E	+	1	0	KCND2	120173088	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	9.579000	0.98204	2.788000	0.95919	0.650000	0.86243	GAA		0.388	KCND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346996.1	NM_012281		13	52	0	0	0	1	0	13	52					A	120385852	G	A	120385852	3	1	420	1	0	0	0	0	1	0	0	0	8019	1059	37	2	1504	2	KCND2	7	120385852	Missense_Mutation	SNP	G	TCGA-VP-A87K-01A-11D-A34U-08	72071708	120385852	38752811	21	20342											
CSMD3	114788	broad.mit.edu	37	chr8	113599319	113599319	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agaacatctccttgtgctaaAtgaaatgttctggctgaaat	13	13	8	7	0	2	3	0	2	2	1	3	3	2	3	1	1	2	3	1	1	5	3			TCGA-VP-A87K-01A-11D-A34U-08	TCGA-VP-A87K-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd313ed-de0b-435e-864c-1169b729acaf	abe6e709-1d51-4e6b-92a2-7e5c49b553ab	g.chr8:113599319A>C	ENST00000297405.5	-	23	4105	c.3861T>G	c.(3859-3861)caT>caG	p.H1287Q	CSMD3_ENST00000352409.3_Missense_Mutation_p.H1287Q|CSMD3_ENST00000343508.3_Missense_Mutation_p.H1247Q|CSMD3_ENST00000455883.2_Missense_Mutation_p.H1183Q	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1287	CUB 7. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						CTTGTGCTAAATGAAATGTTC	0.308										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												ENST00000297405.5																			0				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						c.(3859-3861)caT>caG		CUB and Sushi multiple domains 3							121	110	114					8																	113599319		2203	4299	6502	SO:0001583	missense	114788					integral to membrane|plasma membrane		g.chr8:113599319A>C	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.3861T>G	8.37:g.113599319A>C	ENSP00000297405:p.His1287Gln	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_ENST00000455883.2_Missense_Mutation_p.H1183Q|CSMD3_ENST00000352409.3_Missense_Mutation_p.H1287Q|CSMD3_ENST00000343508.3_Missense_Mutation_p.H1247Q	p.H1287Q	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN			23	4105	-			1287			CUB 7.		Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	c.3861T>G	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	A	6.441	0.449588	0.12223	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.16897	2.31;2.31;2.31;2.31;2.31	4.08	1.74	0.24563	CUB (5);	0.197424	0.38663	N	0.001615	T	0.06872	0.0175	N	0.04787	-0.16	0.24573	N	0.993914	B;B;B	0.23128	0.065;0.08;0.04	B;B;B	0.24006	0.03;0.05;0.032	T	0.38993	-0.9635	10	0.17832	T	0.49	.	7.8831	0.29633	0.6751:0.0:0.3249:0.0	.	1183;1287;1247	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	Q	1247;1287;627;1183;1287	ENSP00000345799:H1247Q;ENSP00000297405:H1287Q;ENSP00000341558:H627Q;ENSP00000412263:H1183Q;ENSP00000343124:H1287Q	ENSP00000297405:H1287Q	H	-	3	2	CSMD3	113668495	0.963000	0.33076	1.000000	0.80357	0.997000	0.91878	0.389000	0.20751	0.727000	0.32360	0.482000	0.46254	CAT		0.308	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		27	26	0	0	0	1	0	27	26					C	113599319	A	C	113599319	3	2	420	1	0	0	0	0	1	0	0	0	3946	98	4	5	7458	5	CSMD3	8	113599319	Missense_Mutation	SNP	A	TCGA-VP-A87K-01A-11D-A34U-08		113599319	32764703	22	20343											
KIAA2026	158358	broad.mit.edu	37	chr9	6007388	6007388	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcagacacatgccctgtcCgggctgctgcgggaaggcgc	7	5	15	14	3	0	1	0	0	0	1	1	2	1	2	2	3	4	3	2	3	1	0			TCGA-VP-A87K-01A-11D-A34U-08	TCGA-VP-A87K-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd313ed-de0b-435e-864c-1169b729acaf	abe6e709-1d51-4e6b-92a2-7e5c49b553ab	g.chr9:6007388C>A	ENST00000399933.3	-	1	399	c.400G>T	c.(400-402)Gga>Tga	p.G134*	KIAA2026_ENST00000381461.2_Nonsense_Mutation_p.G134*|MIR4665_ENST00000581132.1_RNA	NM_001017969.2	NP_001017969.2	Q5HYC2	K2026_HUMAN	KIAA2026	134										breast(6)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(1)	46		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124)		ATGCCCTGTCCGGGCTGCTGC	0.692																																						ENST00000399933.3																			0				breast(6)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(1)	46						c.(400-402)Gga>Tga		KIAA2026							18	21	20					9																	6007388		1894	4092	5986	SO:0001587	stop_gained	158358							g.chr9:6007388C>A	AB095946		9p24.1	2014-01-10			ENSG00000183354	ENSG00000183354			23378	protein-coding gene	gene with protein product							Standard	NM_001017969		Approved	FLJ20375	uc003zjq.4	Q5HYC2	OTTHUMG00000019507	ENST00000399933.3:c.400G>T	9.37:g.6007388C>A	ENSP00000382815:p.Gly134*					KIAA2026_ENST00000381461.2_Nonsense_Mutation_p.G134*	p.G134*	NM_001017969.2	NP_001017969.2	Q5HYC2	K2026_HUMAN		GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124)	1	399	-		Acute lymphoblastic leukemia(23;0.158)	134					A8MTP2|B9EGW7|Q4VXA2|Q8IVE5	Nonsense_Mutation	SNP	ENST00000399933.3	37	c.400G>T		.	.	.	.	.	.	.	.	.	.	C	15.10	2.731737	0.48939	.	.	ENSG00000183354	ENST00000399933;ENST00000381461;ENST00000513355	.	.	.	4.43	2.54	0.30619	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.09084	T	0.74	.	6.1805	0.20468	0.0:0.6172:0.1981:0.1847	.	.	.	.	X	134	.	ENSP00000370870:G134X	G	-	1	0	KIAA2026	5997388	0.007000	0.16637	0.033000	0.17914	0.206000	0.24218	0.812000	0.27211	0.419000	0.25927	-0.224000	0.12420	GGA		0.692	KIAA2026-002	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000051652.2	NM_001017969		10	14	1	0	0.00829132	1	0.00842505	10	14					A	6007388	C	A	6007388	4	1	420	1	0	0	0	0	0	1	0	0	8270	661	23	5	5943	5	KIAA2026	9	6007388	Nonsense_Mutation	SNP	C	TCGA-VP-A87K-01A-11D-A34U-08		6007388	135206043	23	20344											
CDK20	23552	broad.mit.edu	37	chr9	90585482	90585482	+	Splice_Site	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gaccacccacaggggtctcaCcacagatcgacgccctggtc	9	5	10	17	2	1	1	1	0	1	1	4	3	1	1	4	3	0	0	4	3	0	0			TCGA-VP-A87K-01A-11D-A34U-08	TCGA-VP-A87K-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd313ed-de0b-435e-864c-1169b729acaf	abe6e709-1d51-4e6b-92a2-7e5c49b553ab	g.chr9:90585482C>G	ENST00000325303.8	-	5	869		c.e5+1		CDK20_ENST00000375883.3_Intron|CDK20_ENST00000375871.4_Intron|CDK20_ENST00000605159.1_Intron|CDK20_ENST00000336654.5_Intron	NM_001039803.2	NP_001034892.1	Q8IZL9	CDK20_HUMAN	cyclin-dependent kinase 20						cell cycle (GO:0007049)|cell division (GO:0051301)|multicellular organismal development (GO:0007275)	cilium (GO:0005929)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)			skin(1)	1						AGGGGTCTCACCACAGATCGA	0.592																																						ENST00000325303.8																			0				skin(1)	1						c.e5+1		cyclin-dependent kinase 20							48	42	44					9																	90585482		2203	4300	6503	SO:0001630	splice_region_variant	23552				cell division|multicellular organismal development	cilium|mitochondrion|nucleus	ATP binding|cyclin-dependent protein kinase activity	g.chr9:90585482C>G	AF035013	CCDS6677.1, CCDS6678.1, CCDS35060.1, CCDS55324.1, CCDS65075.1	9q22.1	2011-11-08	2009-12-16	2009-12-16	ENSG00000156345	ENSG00000156345		"Cyclin-dependent kinases"	21420	protein-coding gene	gene with protein product		610076	"cell cycle related kinase"	CCRK		19884882	Standard	NM_178432		Approved	p42	uc004apr.3	Q8IZL9	OTTHUMG00000020161	ENST00000325303.8:c.563+1G>C	9.37:g.90585482C>G						CDK20_ENST00000375871.4_Intron|CDK20_ENST00000336654.5_Intron|CDK20_ENST00000605159.1_Intron|CDK20_ENST00000375883.3_Intron		NM_001039803.2	NP_001034892.1	Q8IZL9	CDK20_HUMAN			5	869	-								A2A389|A2A390|B4DQX1|O95137|Q5EDC4|Q5VYW1|Q9BUF4	Splice_Site	SNP	ENST00000325303.8	37		CCDS35060.1	.	.	.	.	.	.	.	.	.	.	C	15.98	2.992773	0.54041	.	.	ENSG00000156345	ENST00000325303	.	.	.	4.73	4.73	0.59995	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.5849	0.61924	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CDK20	89775302	1.000000	0.71417	1.000000	0.80357	0.541000	0.35023	5.690000	0.68241	2.354000	0.79902	0.561000	0.74099	.		0.592	CDK20-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214996.1	NM_012119	Intron	7	21	0	0	0	1	0	7	21					G	90585482	C	G	90585482	5	3	420	1	0	0	0	0	0	0	1	0	3137	521	18	5	492	5	CDK20	9	90585482	Splice_Site	SNP	C	TCGA-VP-A87K-01A-11D-A34U-08	84578094	90585482	50627949	24	20345											
AGAP6	414189	broad.mit.edu	37	chr10	51754188	51754188	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagaagcaactgtacaaaccAtgtaagtaaacactcaaata	21	7	5	8	0	1	1	1	0	0	1	1	1	1	1	1	0	5	4	1	0	10	4			TCGA-VP-A87K-01A-11D-A34U-08	TCGA-VP-A87K-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd313ed-de0b-435e-864c-1169b729acaf	abe6e709-1d51-4e6b-92a2-7e5c49b553ab	g.chr10:51754188A>G	ENST00000374056.4	+	3	724	c.326A>G	c.(325-327)cAt>cGt	p.H109R	AGAP6_ENST00000412531.3_Splice_Site_p.H132R			Q5VW22	AGAP6_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 6	109					regulation of ARF GTPase activity (GO:0032312)		ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)	p.H132R(4)		NS(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(1)|lung(8)|prostate(3)|skin(1)|stomach(2)	29						TGTACAAACCATGTAAGTAAA	0.299																																						ENST00000374056.4																			4	Substitution - Missense(4)	p.H132R(4)	endometrium(4)	NS(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(1)|lung(8)|prostate(3)|skin(1)|stomach(2)	29						c.e3+1		ArfGAP with GTPase domain, ankyrin repeat and PH domain 6							51	44	46					10																	51754188		692	1585	2277	SO:0001630	splice_region_variant	414189				regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding	g.chr10:51754188A>G		CCDS44397.1	10q11.23	2013-01-10	2008-09-22	2008-09-22	ENSG00000204149	ENSG00000204149		"ADP-ribosylation factor GTPase activating proteins", "Pleckstrin homology (PH) domain containing", "Ankyrin repeat domain containing"	23466	protein-coding gene	gene with protein product			"centaurin, gamma-like family, member 3"	CTGLF3			Standard	NM_001077665		Approved	bA324H6.1	uc001jix.4	Q5VW22	OTTHUMG00000018220	ENST00000374056.4:c.327+1A>G	10.37:g.51754188A>G						AGAP6_ENST00000412531.3_Splice_Site_p.H132_splice	p.H109_splice			C9IYN2	C9IYN2_HUMAN			3	724	+			132						Splice_Site	SNP	ENST00000374056.4	37	c.327_splice		.	.	.	.	.	.	.	.	.	.	A	3.385	-0.125542	0.06795	.	.	ENSG00000204149	ENST00000374056;ENST00000412531	.	.	.	1.7	1.7	0.24286	.	0.194928	0.41712	D	0.000827	T	0.40272	0.1110	M	0.71206	2.165	0.21841	N	0.999514	B	0.19331	0.035	B	0.17433	0.018	T	0.21586	-1.0241	9	0.19590	T	0.45	.	7.4134	0.27029	1.0:0.0:0.0:0.0	.	132	C9IYN2	.	R	132;109	.	ENSP00000363168:H132R	H	+	2	0	AGAP6	51424194	1.000000	0.71417	1.000000	0.80357	0.159000	0.22180	3.699000	0.54778	1.033000	0.39918	0.155000	0.16302	CAT		0.299	AGAP6-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_001077665	Missense_Mutation	3	54	0	0	0	1	0	3	54					G	51754188	A	G	51754188	5	3	420	1	0	0	0	0	0	0	1	0	372	231	8	4	409	4	AGAP6	10	51754188	Splice_Site	SNP	A	TCGA-VP-A87K-01A-11D-A34U-08		51754188	83780559	25	20346											
KIAA1274	27143	broad.mit.edu	37	chr10	72291081	72291081	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgtgtgcgggaggaacctgtGcttttcctgcgtgcagatga	6	12	15	8	2	0	2	0	1	0	1	1	4	1	4	2	2	5	2	2	2	1	2			TCGA-VP-A87K-01A-11D-A34U-08	TCGA-VP-A87K-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd313ed-de0b-435e-864c-1169b729acaf	abe6e709-1d51-4e6b-92a2-7e5c49b553ab	g.chr10:72291081G>A	ENST00000263563.6	+	5	772	c.504G>A	c.(502-504)gtG>gtA	p.V168V		NM_014431.2	NP_055246.2	Q9ULE6	PALD_HUMAN	phosphatase domain containing, paladin 1	168						cytosol (GO:0005829)											AGGAACCTGTGCTTTTCCTGC	0.592																																						ENST00000263563.6																			0											c.(502-504)gtG>gtA		phosphatase domain containing, paladin 1							173	134	147					10																	72291081		2203	4300	6503	SO:0001819	synonymous_variant	27143							g.chr10:72291081G>A	AB033100	CCDS31215.1	10q22.2	2012-07-17	2012-07-17	2012-07-17	ENSG00000107719	ENSG00000107719			23530	protein-coding gene	gene with protein product		614656	"paladin", "KIAA1274"	PALD, KIAA1274			Standard	NM_014431		Approved		uc001jrd.4	Q9ULE6	OTTHUMG00000018411	ENST00000263563.6:c.504G>A	10.37:g.72291081G>A							p.V168V	NM_014431.2	NP_055246.2					5	772	+								B2RMS1|B9EGC6|Q5JTK7|Q5JTK8	Silent	SNP	ENST00000263563.6	37	c.504G>A	CCDS31215.1																																																																																				0.592	PALD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048515.2	NM_014431		22	46	0	0	0	1	0	22	46					A	72291081	G	A	72291081	2	1	420	1	0	0	0	0	0	0	0	1	8220	1306	46	3		3	KIAA1274	10	72291081	Silent	SNP	G	TCGA-VP-A87K-01A-11D-A34U-08	20536893	72291081	63243666	26	20347											
OR10A3	26496	broad.mit.edu	37	chr11	7960191	7960191	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cctcttcatctcactgtttcGtaagctatagatgagcggat	9	14	8	10	2	3	2	2	1	2	1	5	3	3	3	1	1	2	3	1	1	3	5	rs151285056		TCGA-VP-A87K-01A-11D-A34U-08	TCGA-VP-A87K-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd313ed-de0b-435e-864c-1169b729acaf	abe6e709-1d51-4e6b-92a2-7e5c49b553ab	g.chr11:7960191G>A	ENST00000360759.3	-	1	950	c.877C>T	c.(877-879)Cga>Tga	p.R293*		NM_001003745.1	NP_001003745.1	P58181	O10A3_HUMAN	olfactory receptor, family 10, subfamily A, member 3	293					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|large_intestine(5)|lung(12)|pancreas(1)|skin(2)	21				Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		TCACTGTTTCGTAAGCTATAG	0.418													G|||	1	0.000199681	8e-04	0	5008	,	,		20062	0		0	False		,,,				2504	0					ENST00000360759.3																			0				endometrium(1)|large_intestine(5)|lung(12)|pancreas(1)|skin(2)	21						c.(877-879)Cga>Tga		olfactory receptor, family 10, subfamily A, member 3		G	stop/ARG	1,4401	2.1+/-5.4	0,1,2200	150	139	143		877	-3.2	0.7	11	dbSNP_134	143	0,8592		0,0,4296	yes	stop-gained	OR10A3	NM_001003745.1		0,1,6496	AA,AG,GG		0.0,0.0227,0.0077		293/315	7960191	1,12993	2201	4296	6497	SO:0001587	stop_gained	26496				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:7960191G>A	BK004404	CCDS31421.1	11p15.4	2012-08-09			ENSG00000170683	ENSG00000170683		"GPCR / Class A : Olfactory receptors"	8162	protein-coding gene	gene with protein product						1370859	Standard	NM_001003745		Approved	HTPCRX12, HSHTPCRX12	uc010rbi.2	P58181	OTTHUMG00000165672	ENST00000360759.3:c.877C>T	11.37:g.7960191G>A	ENSP00000353988:p.Arg293*						p.R293*	NM_001003745.1	NP_001003745.1	P58181	O10A3_HUMAN		Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)	1	950	-			293					B9EH39|Q6IF58|Q96R11	Nonsense_Mutation	SNP	ENST00000360759.3	37	c.877C>T	CCDS31421.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	9.316	1.056902	0.19907	2.27E-4	0.0	ENSG00000170683	ENST00000360759	.	.	.	4.65	-3.25	0.05079	.	0.000000	0.34531	U	0.003899	.	.	.	.	.	.	0.39256	D	0.964127	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	16.4735	0.84125	0.0:0.0:0.1748:0.8252	.	.	.	.	X	293	.	ENSP00000353988:R293X	R	-	1	2	OR10A3	7916767	0.008000	0.16893	0.741000	0.31004	0.003000	0.03518	0.051000	0.14141	-0.306000	0.08818	-0.238000	0.12139	CGA		0.418	OR10A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385704.1	NM_001003745		4	91	0	0	0	1	0	4	91					A	7960191	G	A	7960191	4	1	420	1	0	0	0	0	0	1	0	0	10891	1153	40	1	70	1	OR10A3	11	7960191	Nonsense_Mutation	SNP	G	TCGA-VP-A87K-01A-11D-A34U-08		7960191	127046325	27	20348											
ATG2A	23130	broad.mit.edu	37	chr11	64678137	64678137	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcgcagatgggcgcagggcCgagctgaggcctgggagccc	6	3	20	12	3	0	2	0	1	0	1	0	4	0	3	3	5	2	3	3	5	0	0	rs574229883		TCGA-VP-A87K-01A-11D-A34U-08	TCGA-VP-A87K-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd313ed-de0b-435e-864c-1169b729acaf	abe6e709-1d51-4e6b-92a2-7e5c49b553ab	g.chr11:64678137C>T	ENST00000377264.3	-	12	1770	c.1658G>A	c.(1657-1659)cGg>cAg	p.R553Q	ATG2A_ENST00000421419.2_Missense_Mutation_p.R553Q	NM_015104.2	NP_055919.2	Q2TAZ0	ATG2A_HUMAN	autophagy related 2A	553					autophagic vacuole assembly (GO:0000045)|cellular response to nitrogen starvation (GO:0006995)|mitochondrion degradation (GO:0000422)|nucleophagy (GO:0044804)	extrinsic component of membrane (GO:0019898)|lipid particle (GO:0005811)|pre-autophagosomal structure (GO:0000407)				breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(19)|ovary(3)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	55						GGCGCAGGGCCGAGCTGAGGC	0.677																																						ENST00000421419.2																			0				breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(19)|ovary(3)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	55						c.(1657-1659)cGg>cAg		autophagy related 2A							54	53	53					11																	64678137		2195	4291	6486	SO:0001583	missense	23130						protein binding	g.chr11:64678137C>T		CCDS31602.1	11q13.1	2014-02-12	2012-06-06		ENSG00000110046	ENSG00000110046			29028	protein-coding gene	gene with protein product			"ATG2 autophagy related 2 homolog A (S. cerevisiae)"			21887408	Standard	NM_015104		Approved	KIAA0404	uc001obx.3	Q2TAZ0	OTTHUMG00000066831	ENST00000377264.3:c.1658G>A	11.37:g.64678137C>T	ENSP00000366475:p.Arg553Gln					ATG2A_ENST00000377264.3_Missense_Mutation_p.R553Q	p.R553Q			Q2TAZ0	ATG2A_HUMAN			12	1772	-			553					O43154|Q14DM2|Q6ZTV2|Q7Z6K8|Q8IVY5|Q8TAI8|Q96HH7	Missense_Mutation	SNP	ENST00000377264.3	37	c.1658G>A	CCDS31602.1	.	.	.	.	.	.	.	.	.	.	C	8.795	0.931559	0.18131	.	.	ENSG00000110046	ENST00000421419;ENST00000377264	T;T	0.06294	3.32;3.32	4.97	0.836	0.18891	.	0.279739	0.32608	N	0.005880	T	0.03390	0.0098	L	0.28115	0.83	0.31892	N	0.61705	B	0.23316	0.083	B	0.10450	0.005	T	0.38478	-0.9659	10	0.17832	T	0.49	.	3.6105	0.08058	0.1727:0.5308:0.0:0.2965	.	553	Q2TAZ0	ATG2A_HUMAN	Q	553	ENSP00000410522:R553Q;ENSP00000366475:R553Q	ENSP00000366475:R553Q	R	-	2	0	ATG2A	64434713	0.438000	0.25602	0.930000	0.37139	0.621000	0.37620	0.166000	0.16583	-0.033000	0.13736	0.462000	0.41574	CGG		0.677	ATG2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000143224.1	NM_015104		5	8	0	0	0	1	0	5	8					T	64678137	C	T	64678137	3	4	420	1	0	0	0	0	1	0	0	0	1093	652	23	2	4278	2	ATG2A	11	64678137	Missense_Mutation	SNP	C	TCGA-VP-A87K-01A-11D-A34U-08	56717946	64678137	70328379	28	20349											
UBE3B	89910	broad.mit.edu	37	chr12	109948242	109948242	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ctgccggcggcgcttcacccCcgaggaccactggctgcgaa	6	5	13	17	5	1	0	1	0	0	0	1	3	1	1	4	4	2	2	4	4	1	1	rs375635592		TCGA-VP-A87K-01A-11D-A34U-08	TCGA-VP-A87K-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd313ed-de0b-435e-864c-1169b729acaf	abe6e709-1d51-4e6b-92a2-7e5c49b553ab	g.chr12:109948242C>G	ENST00000342494.3	+	17	2430	c.1835C>G	c.(1834-1836)cCc>cGc	p.P612R	UBE3B_ENST00000280774.5_Missense_Mutation_p.P612R|UBE3B_ENST00000434735.2_Missense_Mutation_p.P612R|UBE3B_ENST00000535900.1_3'UTR	NM_130466.3	NP_569733.2	Q7Z3V4	UBE3B_HUMAN	ubiquitin protein ligase E3B	612					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(3)|endometrium(6)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|urinary_tract(2)	45						CGCTTCACCCCCGAGGACCAC	0.647																																						ENST00000342494.3																			0				NS(1)|breast(3)|endometrium(6)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|urinary_tract(2)	45						c.(1834-1836)cCc>cGc		ubiquitin protein ligase E3B							32	29	30					12																	109948242		2203	4300	6503	SO:0001583	missense	89910				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	ubiquitin-protein ligase activity	g.chr12:109948242C>G	BC032301	CCDS9129.1, CCDS58277.1	12q24.12	2004-03-02			ENSG00000151148	ENSG00000151148			13478	protein-coding gene	gene with protein product		608047					Standard	NM_130466		Approved		uc001toq.4	Q7Z3V4	OTTHUMG00000169254	ENST00000342494.3:c.1835C>G	12.37:g.109948242C>G	ENSP00000340596:p.Pro612Arg					UBE3B_ENST00000535900.1_3'UTR|UBE3B_ENST00000280774.5_Missense_Mutation_p.P612R|UBE3B_ENST00000434735.2_Missense_Mutation_p.P612R	p.P612R	NM_130466.3	NP_569733.2	Q7Z3V4	UBE3B_HUMAN			17	2430	+			612					A5D8Z3|Q05BX9|Q659F7|Q7Z7Q1|Q9BXZ4	Missense_Mutation	SNP	ENST00000342494.3	37	c.1835C>G	CCDS9129.1	.	.	.	.	.	.	.	.	.	.	C	28.2	4.895764	0.91962	.	.	ENSG00000151148	ENST00000434735;ENST00000280774;ENST00000539599;ENST00000342494;ENST00000539584	T;T;T;T	0.59906	0.95;0.23;1.04;0.95	5.09	5.09	0.68999	.	0.000000	0.85682	D	0.000000	T	0.74604	0.3738	M	0.77486	2.375	0.80722	D	1	D	0.69078	0.997	P	0.61132	0.884	T	0.79052	-0.1961	10	0.87932	D	0	-11.3364	17.4677	0.87638	0.0:1.0:0.0:0.0	.	612	Q7Z3V4	UBE3B_HUMAN	R	612;612;612;612;39	ENSP00000391529:P612R;ENSP00000280774:P612R;ENSP00000443131:P612R;ENSP00000340596:P612R	ENSP00000280774:P612R	P	+	2	0	UBE3B	108432625	1.000000	0.71417	0.978000	0.43139	0.982000	0.71751	7.440000	0.80464	2.370000	0.80446	0.462000	0.41574	CCC		0.647	UBE3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403119.1	NM_183415		6	10	0	0	0	1	0	6	10					G	109948242	C	G	109948242	3	3	420	1	0	0	0	0	1	0	0	0	16877	623	22	5	1893	5	UBE3B	12	109948242	Missense_Mutation	SNP	C	TCGA-VP-A87K-01A-11D-A34U-08		109948242	23903653	29	20350											
FAM101A	144347	broad.mit.edu	37	chr12	124798835	124798835	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggcctacagcgagaccatcGtggcagcacccaactgcacg	10	4	11	16	4	0	1	0	0	0	1	1	2	0	1	3	2	5	3	3	2	2	1			TCGA-VP-A87K-01A-11D-A34U-08	TCGA-VP-A87K-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd313ed-de0b-435e-864c-1169b729acaf	abe6e709-1d51-4e6b-92a2-7e5c49b553ab	g.chr12:124798835G>A	ENST00000389727.3	+	3	415	c.415G>A	c.(415-417)Gtg>Atg	p.V139M	FAM101A_ENST00000546355.1_Missense_Mutation_p.V58M|FAM101A_ENST00000324038.3_Missense_Mutation_p.V58M|FAM101A_ENST00000338359.4_Missense_Mutation_p.V58M			Q6ZTI6	F101A_HUMAN	family with sequence similarity 101, member A	139										endometrium(1)|kidney(1)|lung(1)	3	all_neural(191;0.101)|Medulloblastoma(191;0.163)			Epithelial(86;2.38e-05)|OV - Ovarian serous cystadenocarcinoma(86;6.95e-05)|all cancers(50;0.000361)|BRCA - Breast invasive adenocarcinoma(302;0.059)		CGAGACCATCGTGGCAGCACC	0.637																																						ENST00000389727.3																			0				endometrium(1)|kidney(1)|lung(1)	3						c.(415-417)Gtg>Atg		family with sequence similarity 101, member A							104	91	96					12																	124798835		2203	4300	6503	SO:0001583	missense	144347							g.chr12:124798835G>A		CCDS9258.1	12q24.31	2012-11-30			ENSG00000178882	ENSG00000178882			27051	protein-coding gene	gene with protein product		615927				12477932	Standard	NM_181709		Approved	FLJ44614	uc001ugd.2	Q6ZTI6	OTTHUMG00000168609	ENST00000389727.3:c.415G>A	12.37:g.124798835G>A	ENSP00000374377:p.Val139Met					FAM101A_ENST00000546355.1_Missense_Mutation_p.V58M|FAM101A_ENST00000324038.3_Missense_Mutation_p.V58M|FAM101A_ENST00000338359.4_Missense_Mutation_p.V58M	p.V139M			Q6ZTI6	F101A_HUMAN		Epithelial(86;2.38e-05)|OV - Ovarian serous cystadenocarcinoma(86;6.95e-05)|all cancers(50;0.000361)|BRCA - Breast invasive adenocarcinoma(302;0.059)	3	415	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		139					A5D8T5	Missense_Mutation	SNP	ENST00000389727.3	37	c.415G>A		.	.	.	.	.	.	.	.	.	.	G	10.36	1.328395	0.24080	.	.	ENSG00000178882	ENST00000324038;ENST00000541200;ENST00000389727;ENST00000546355;ENST00000338359	.	.	.	4.69	0.831	0.18860	.	0.134143	0.50627	D	0.000120	T	0.35422	0.0931	L	0.55481	1.735	0.41956	D	0.990681	P	0.38300	0.626	B	0.27170	0.077	T	0.12293	-1.0553	9	0.62326	D	0.03	-22.7475	3.5012	0.07673	0.5057:0.2061:0.2881:0.0	.	139	Q6ZTI6	F101A_HUMAN	M	58;58;139;58;58	.	ENSP00000315626:V58M	V	+	1	0	FAM101A	123364788	1.000000	0.71417	0.709000	0.30452	0.041000	0.13682	2.782000	0.47758	0.049000	0.15920	0.555000	0.69702	GTG		0.637	FAM101A-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_181709		4	99	0	0	0	1	0	4	99					A	124798835	G	A	124798835	3	1	420	1	0	0	0	0	1	0	0	0	5380	1145	40	1	178	1	FAM101A	12	124798835	Missense_Mutation	SNP	G	TCGA-VP-A87K-01A-11D-A34U-08	14850593	124798835	9053060	30	20351											
MDGA2	161357	broad.mit.edu	37	chr14	47600972	47600972	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tcaggaatattacatacattCctcactgaagcaatgcagct	14	11	6	10	0	2	1	2	1	0	0	3	2	3	2	1	1	5	3	1	1	6	4			TCGA-VP-A87K-01A-11D-A34U-08	TCGA-VP-A87K-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd313ed-de0b-435e-864c-1169b729acaf	abe6e709-1d51-4e6b-92a2-7e5c49b553ab	g.chr14:47600972C>T	ENST00000399232.2	-	5	1027	c.663G>A	c.(661-663)agG>agA	p.R221R	MDGA2_ENST00000357362.3_5'UTR|MDGA2_ENST00000426342.1_5'UTR|MDGA2_ENST00000439988.3_Silent_p.R290R	NM_001113498.2	NP_001106970.3	Q7Z553	MDGA2_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 2	221	Ig-like 2.				pattern specification process (GO:0007389)|spinal cord motor neuron differentiation (GO:0021522)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5)	76						TACATACATTCCTCACTGAAG	0.328																																						ENST00000439988.2																			0				breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5)	76						c.(661-663)agG>agA		MAM domain containing glycosylphosphatidylinositol anchor 2							126	112	117					14																	47600972		1861	4092	5953	SO:0001819	synonymous_variant	161357				spinal cord motor neuron differentiation	anchored to membrane|plasma membrane		g.chr14:47600972C>T	AI859192	CCDS41948.1, CCDS45098.1, CCDS45098.2, CCDS45098.3	14q21.2	2013-01-29	2007-04-03	2007-04-03	ENSG00000139915	ENSG00000139915		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	19835	protein-coding gene	gene with protein product		611128	"MAM domain containing 1"	MAMDC1		15019943	Standard	NM_001113498		Approved		uc001wwj.4	Q7Z553	OTTHUMG00000029429	ENST00000399232.2:c.663G>A	14.37:g.47600972C>T						MDGA2_ENST00000399232.2_Silent_p.R290R|MDGA2_ENST00000426342.1_5'UTR|MDGA2_ENST00000357362.3_5'UTR	p.R221R			Q7Z553	MDGA2_HUMAN			5	662	-			221			Ig-like 2.		F6W3S7|J3KPX6	Silent	SNP	ENST00000399232.2	37	c.663G>A		.	.	.	.	.	.	.	.	.	.	C	9.219	1.032962	0.19590	.	.	ENSG00000139915	ENST00000554762	.	.	.	5.34	4.45	0.53987	.	.	.	.	.	T	0.59878	0.2226	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.57734	-0.7760	4	.	.	.	.	9.4306	0.38608	0.0:0.8359:0.0:0.1641	.	.	.	.	K	24	.	.	E	-	1	0	MDGA2	46670722	1.000000	0.71417	1.000000	0.80357	0.907000	0.53573	1.442000	0.35046	1.391000	0.46566	-0.237000	0.12165	GAA		0.328	MDGA2-001	KNOWN	upstream_ATG|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000073352.5	NM_182830		42	50	0	0	0	1	0	42	50					T	47600972	C	T	47600972	2	4	420	1	0	0	0	0	0	0	0	1	9407	854	30	3		3	MDGA2	14	47600972	Silent	SNP	C	TCGA-VP-A87K-01A-11D-A34U-08		47600972	59748568	31	20352											
FBN1	2200	broad.mit.edu	37	chr15	48779510	48779510	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgaaagtctttctccttaccGatacacgcggagatgttggg	9	12	11	9	3	2	2	0	1	2	1	3	4	2	2	2	2	2	1	2	2	3	4	rs144339604		TCGA-VP-A87K-01A-11D-A34U-08	TCGA-VP-A87K-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd313ed-de0b-435e-864c-1169b729acaf	abe6e709-1d51-4e6b-92a2-7e5c49b553ab	g.chr15:48779510G>A	ENST00000316623.5	-	28	3917	c.3462C>T	c.(3460-3462)atC>atT	p.I1154I		NM_000138.4	NP_000129	P35555	FBN1_HUMAN	fibrillin 1	1154	EGF-like 17; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|kidney development (GO:0001822)|sequestering of BMP in extracellular matrix (GO:0035582)|sequestering of TGFbeta in extracellular matrix (GO:0035583)|skeletal system development (GO:0001501)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		TCTCCTTACCGATACACGCGG	0.478																																						ENST00000316623.5																			0				NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139						c.e28+1		fibrillin 1		A		0,4396		0,0,2198	94	95	95		3462	-10.2	0.1	15	dbSNP_134	95	1,8591	1.2+/-3.3	0,1,4295	no	coding-synonymous-near-splice	FBN1	NM_000138.4		0,1,6493	AA,AG,GG		0.0116,0.0,0.0077		1154/2872	48779510	1,12987	2198	4296	6494	SO:0001630	splice_region_variant	2200				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding	g.chr15:48779510G>A	X63556	CCDS32232.1	15q21.1	2014-09-17	2006-04-25			ENSG00000166147			3603	protein-coding gene	gene with protein product	"Marfan syndrome"	134797	"fibrillin 1 (Marfan syndrome)"	FBN, MFS1, WMS		10036187, 12525539	Standard	NM_000138		Approved	MASS, OCTD, SGS	uc001zwx.2	P35555		ENST00000316623.5:c.3463+1C>T	15.37:g.48779510G>A							p.I1154_splice	NM_000138.4	NP_000129.3	P35555	FBN1_HUMAN		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)	28	3917	-		all_lung(180;0.00279)	1154			EGF-like 17; calcium-binding.		B2RUU0|D2JYH6|Q15972|Q75N87	Splice_Site	SNP	ENST00000316623.5	37	c.3463_splice	CCDS32232.1																																																																																				0.478	FBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417355.1		Silent	5	53	0	0	0	1	0	5	53					A	48779510	G	A	48779510	5	1	420	1	0	0	0	0	0	0	1	0	5702	1072	37	2	5309	2	FBN1	15	48779510	Splice_Site	SNP	G	TCGA-VP-A87K-01A-11D-A34U-08		48779510	53751882	32	20353											
GLDN	342035	broad.mit.edu	37	chr15	51696652	51696652	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	gcattcttgtagcacaactgGatgagaggacattctcagtg	11	11	11	8	0	2	1	1	1	2	1	3	4	2	3	0	2	2	3	0	2	2	4			TCGA-VP-A87K-01A-11D-A34U-08	TCGA-VP-A87K-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd313ed-de0b-435e-864c-1169b729acaf	abe6e709-1d51-4e6b-92a2-7e5c49b553ab	g.chr15:51696652G>C	ENST00000335449.6	+	10	1413	c.1357G>C	c.(1357-1359)Gat>Cat	p.D453H	GLDN_ENST00000396399.2_Missense_Mutation_p.D329H	NM_181789.2	NP_861454.2	Q6ZMI3	GLDN_HUMAN	gliomedin	453	Olfactomedin-like. {ECO:0000255|PROSITE- ProRule:PRU00446}.				clustering of voltage-gated sodium channels (GO:0045162)|heterotypic cell-cell adhesion (GO:0034113)|microvillus organization (GO:0032528)	collagen trimer (GO:0005581)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19				all cancers(107;0.00194)|GBM - Glioblastoma multiforme(94;0.00942)		AGCACAACTGGATGAGAGGAC	0.463																																						ENST00000335449.6																			0				central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19						c.(1357-1359)Gat>Cat		gliomedin							166	152	157					15																	51696652		2196	4293	6489	SO:0001583	missense	342035				cell differentiation|nervous system development	collagen|integral to membrane|plasma membrane		g.chr15:51696652G>C	AY358144	CCDS10140.2	15q15.3	2008-02-05	2005-10-06	2005-10-06	ENSG00000186417	ENSG00000186417			29514	protein-coding gene	gene with protein product		608603	"collomin"	COLM		16039564, 12642876	Standard	XM_005254338		Approved	CRG-L2, CLOM, colmedin, UNC-112	uc002aba.3	Q6ZMI3	OTTHUMG00000131746	ENST00000335449.6:c.1357G>C	15.37:g.51696652G>C	ENSP00000335196:p.Asp453His					GLDN_ENST00000396399.2_Missense_Mutation_p.D329H	p.D453H	NM_181789.2	NP_861454.2	Q6ZMI3	GLDN_HUMAN		all cancers(107;0.00194)|GBM - Glioblastoma multiforme(94;0.00942)	10	1413	+			453			Olfactomedin-like.		Q6UXZ7|Q7Z359	Missense_Mutation	SNP	ENST00000335449.6	37	c.1357G>C	CCDS10140.2	.	.	.	.	.	.	.	.	.	.	G	19.61	3.860481	0.71834	.	.	ENSG00000186417	ENST00000335449;ENST00000396399;ENST00000537339	D;D	0.91351	-2.83;-2.83	5.71	5.71	0.89125	Olfactomedin-like (3);	0.503892	0.16522	N	0.210747	D	0.94971	0.8373	M	0.67517	2.055	0.80722	D	1	D	0.69078	0.997	D	0.69307	0.963	D	0.94581	0.7779	10	0.66056	D	0.02	.	19.8534	0.96748	0.0:0.0:1.0:0.0	.	453	Q6ZMI3	GLDN_HUMAN	H	453;329;329	ENSP00000335196:D453H;ENSP00000379681:D329H	ENSP00000335196:D453H	D	+	1	0	GLDN	49483944	1.000000	0.71417	0.996000	0.52242	0.713000	0.41058	7.639000	0.83342	2.711000	0.92665	0.563000	0.77884	GAT		0.463	GLDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254667.2	NM_181789		29	87	0	0	0	1	0	29	87					C	51696652	G	C	51696652	3	2	420	1	0	0	0	0	1	0	0	0	6434	1174	41	5	1395	5	GLDN	15	51696652	Missense_Mutation	SNP	G	TCGA-VP-A87K-01A-11D-A34U-08	2917142	51696652	50834740	33	20354											
MKL2	57496	broad.mit.edu	37	chr16	14355248	14355248	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcagcaccaccgcgccgagcAtgttctctgctgactttcta	7	11	8	15	3	3	1	1	1	2	0	4	2	3	1	3	0	3	4	3	0	1	3			TCGA-VP-A87K-01A-11D-A34U-08	TCGA-VP-A87K-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd313ed-de0b-435e-864c-1169b729acaf	abe6e709-1d51-4e6b-92a2-7e5c49b553ab	g.chr16:14355248A>G	ENST00000341243.5	+	15	3214	c.3214A>G	c.(3214-3216)Atg>Gtg	p.M1072V	MKL2_ENST00000571589.1_Missense_Mutation_p.M1083V|MKL2_ENST00000318282.5_Missense_Mutation_p.M1033V|MKL2_ENST00000574045.1_Missense_Mutation_p.M1033V			Q9ULH7	MKL2_HUMAN	MKL/myocardin-like 2	1072					blood vessel morphogenesis (GO:0048514)|cardiac muscle tissue development (GO:0048738)|embryonic organ development (GO:0048568)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|liver development (GO:0001889)|muscle organ development (GO:0007517)|positive regulation of striated muscle tissue development (GO:0045844)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|smooth muscle cell differentiation (GO:0051145)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(6)|liver(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						CGCGCCGAGCATGTTCTCTGC	0.502																																						ENST00000571589.1																			0				breast(3)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(6)|liver(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						c.(3247-3249)Atg>Gtg		MKL/myocardin-like 2							69	69	69					16																	14355248		2197	4300	6497	SO:0001583	missense	57496				cell differentiation|muscle organ development|positive regulation of striated muscle tissue development|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		identical protein binding|nucleic acid binding|transcription coactivator activity	g.chr16:14355248A>G	AB033069	CCDS32391.1	16p13.12	2012-11-29			ENSG00000186260	ENSG00000186260			29819	protein-coding gene	gene with protein product		609463				10574462	Standard	NM_014048		Approved	MRTF-B, FLJ31823	uc002dcg.3	Q9ULH7	OTTHUMG00000177379	ENST00000341243.5:c.3214A>G	16.37:g.14355248A>G	ENSP00000345841:p.Met1072Val					MKL2_ENST00000318282.5_Missense_Mutation_p.M1033V|MKL2_ENST00000341243.5_Missense_Mutation_p.M1072V|MKL2_ENST00000574045.1_Missense_Mutation_p.M1033V	p.M1083V	NM_014048.3	NP_054767.3	Q9ULH7	MKL2_HUMAN			17	3419	+			1072					A6ND53|B4DGT8|Q68CT1|Q6UB16|Q86WW2|Q8N226	Missense_Mutation	SNP	ENST00000341243.5	37	c.3247A>G		.	.	.	.	.	.	.	.	.	.	A	0.011	-1.719782	0.00700	.	.	ENSG00000186260	ENST00000318282;ENST00000341243	.	.	.	5.72	2.32	0.28847	.	0.243335	0.42682	N	0.000666	T	0.11665	0.0284	N	0.03050	-0.425	0.26704	N	0.971113	B;B	0.09022	0.0;0.002	B;B	0.08055	0.0;0.003	T	0.35176	-0.9799	9	0.02654	T	1	-13.1569	7.7932	0.29133	0.6811:0.0:0.3189:0.0	.	1083;1033	B4DGT8;Q9ULH7-4	.;.	V	1033;1072	.	ENSP00000339086:M1033V	M	+	1	0	MKL2	14262749	0.196000	0.23350	0.527000	0.27925	0.036000	0.12997	0.555000	0.23422	0.452000	0.26830	-0.326000	0.08463	ATG		0.502	MKL2-202	KNOWN	basic	protein_coding	protein_coding		NM_014048		20	49	0	0	0	1	0	20	49					G	14355248	A	G	14355248	3	3	420	1	0	0	0	0	1	0	0	0	9602	217	8	4	3155	4	MKL2	16	14355248	Missense_Mutation	SNP	A	TCGA-VP-A87K-01A-11D-A34U-08		14355248	75999505	34	20355											
C16orf48	84080	broad.mit.edu	37	chr16	67699024	67699024	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tctgaagcgcttctgaatctCcctgatccgcctcaggttct	6	13	8	14	2	5	3	1	3	4	0	7	3	6	3	3	1	1	2	3	1	2	2			TCGA-VP-A87K-01A-11D-A34U-08	TCGA-VP-A87K-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd313ed-de0b-435e-864c-1169b729acaf	abe6e709-1d51-4e6b-92a2-7e5c49b553ab	g.chr16:67699024C>A	ENST00000243878.4	-	3	649	c.328G>T	c.(328-330)Gag>Tag	p.E110*	ENKD1_ENST00000602644.1_Nonsense_Mutation_p.E110*|ENKD1_ENST00000602409.1_5'UTR|C16orf86_ENST00000403458.4_5'Flank	NM_032140.1	NP_115516.1	Q9H0I2	ENKD1_HUMAN	enkurin domain containing 1	110						cytoplasmic microtubule (GO:0005881)|microtubule cytoskeleton (GO:0015630)											TTCTGAATCTCCCTGATCCGC	0.602																																						ENST00000243878.4																			0											c.(328-330)Gag>Tag		enkurin domain containing 1							167	181	176					16																	67699024		2198	4300	6498	SO:0001587	stop_gained	84080							g.chr16:67699024C>A	BC008284	CCDS10844.1	16q22.1	2012-10-09	2012-10-09	2012-10-09	ENSG00000124074	ENSG00000124074			25246	protein-coding gene	gene with protein product			"chromosome 16 open reading frame 48"	C16orf48		11230166	Standard	NM_032140		Approved	DKFZP434A1319	uc002etw.1	Q9H0I2	OTTHUMG00000137550	ENST00000243878.4:c.328G>T	16.37:g.67699024C>A	ENSP00000243878:p.Glu110*					ENKD1_ENST00000602409.1_5'UTR|ENKD1_ENST00000602644.1_Nonsense_Mutation_p.E110*	p.E110*	NM_032140.1	NP_115516.1					3	649	-								Q6UWD7	Nonsense_Mutation	SNP	ENST00000243878.4	37	c.328G>T	CCDS10844.1	.	.	.	.	.	.	.	.	.	.	C	39	7.306565	0.98200	.	.	ENSG00000124074	ENST00000243878	.	.	.	5.6	5.6	0.85130	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.37606	T	0.19	-15.5497	19.213	0.93765	0.0:1.0:0.0:0.0	.	.	.	.	X	110	.	ENSP00000243878:E110X	E	-	1	0	C16orf48	66256525	1.000000	0.71417	0.999000	0.59377	0.990000	0.78478	6.971000	0.76105	2.653000	0.90120	0.563000	0.77884	GAG		0.602	ENKD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268884.1	NM_032140		8	102	1	0	0.00448238	1	0.00462934	8	102					A	67699024	C	A	67699024	4	1	420	1	0	0	0	0	0	1	0	0	1816	864	30	5	732	5	C16orf48	16	67699024	Nonsense_Mutation	SNP	C	TCGA-VP-A87K-01A-11D-A34U-08	53343776	67699024	22655729	35	20356											
CA4	762	broad.mit.edu	37	chr17	58233957	58233957	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggaaactgccagaaggaccGccagtcccccatcaacatcg	12	5	9	15	2	1	1	1	0	0	1	3	3	2	3	5	2	3	0	5	2	3	0			TCGA-VP-A87K-01A-11D-A34U-08	TCGA-VP-A87K-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd313ed-de0b-435e-864c-1169b729acaf	abe6e709-1d51-4e6b-92a2-7e5c49b553ab	g.chr17:58233957G>A	ENST00000300900.4	+	3	248	c.149G>A	c.(148-150)cGc>cAc	p.R50H		NM_000717.3	NP_000708.1	P22748	CAH4_HUMAN	carbonic anhydrase IV	50					bicarbonate transport (GO:0015701)|one-carbon metabolic process (GO:0006730)|organ development (GO:0048513)|response to drug (GO:0042493)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|cell surface (GO:0009986)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|secretory granule membrane (GO:0030667)|trans-Golgi network (GO:0005802)|transport vesicle membrane (GO:0030658)	carbonate dehydratase activity (GO:0004089)|zinc ion binding (GO:0008270)			kidney(1)|large_intestine(2)|lung(5)|ovary(1)	9	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;3.83e-12)|all cancers(12;6.83e-11)		Acetazolamide(DB00819)|Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Brinzolamide(DB01194)|Chlorothiazide(DB00880)|Cyclothiazide(DB00606)|Diclofenamide(DB01144)|Dorzolamide(DB00869)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methazolamide(DB00703)|Methyclothiazide(DB00232)|Topiramate(DB00273)|Trichlormethiazide(DB01021)|Zonisamide(DB00909)	CAGAAGGACCGCCAGTCCCCC	0.572																																						ENST00000300900.4																			0				kidney(1)|large_intestine(2)|lung(5)|ovary(1)	9						c.(148-150)cGc>cAc		carbonic anhydrase IV	Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Topiramate(DB00273)|Trichlormethiazide(DB01021)						98	87	91					17																	58233957		2203	4300	6503	SO:0001583	missense	762				bicarbonate transport|one-carbon metabolic process	anchored to external side of plasma membrane|apical plasma membrane|brush border membrane|ER-Golgi intermediate compartment|membrane fraction|perinuclear region of cytoplasm|rough endoplasmic reticulum|secretory granule membrane|trans-Golgi network|transport vesicle membrane	carbonate dehydratase activity|protein binding|zinc ion binding	g.chr17:58233957G>A	L10955	CCDS11624.1	17q23.1	2012-08-21			ENSG00000167434	ENSG00000167434	4.2.1.1	"Carbonic anhydrases"	1375	protein-coding gene	gene with protein product		114760	"retinitis pigmentosa 17 (autosomal dominant)"	RP17		8325641	Standard	NM_000717		Approved	CAIV, Car4	uc002iym.4	P22748		ENST00000300900.4:c.149G>A	17.37:g.58233957G>A	ENSP00000300900:p.Arg50His						p.R50H	NM_000717.3	NP_000708.1	P22748	CAH4_HUMAN	Epithelial(12;3.83e-12)|all cancers(12;6.83e-11)		3	248	+	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		50					B4DQA4|Q6FHI7	Missense_Mutation	SNP	ENST00000300900.4	37	c.149G>A	CCDS11624.1	.	.	.	.	.	.	.	.	.	.	G	13.45	2.242260	0.39598	.	.	ENSG00000167434	ENST00000300900	T	0.70631	-0.5	5.27	-4.43	0.03568	Carbonic anhydrase, alpha-class, catalytic domain (4);	1.465230	0.03428	N	0.207352	T	0.61850	0.2380	L	0.49778	1.585	0.09310	N	1	B	0.19331	0.035	B	0.10450	0.005	T	0.52079	-0.8623	10	0.59425	D	0.04	.	6.4527	0.21912	0.5436:0.0:0.3323:0.124	.	50	P22748	CAH4_HUMAN	H	50	ENSP00000300900:R50H	ENSP00000300900:R50H	R	+	2	0	CA4	55588739	0.000000	0.05858	0.001000	0.08648	0.398000	0.30690	-0.455000	0.06762	-0.665000	0.05317	0.655000	0.94253	CGC		0.572	CA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449189.1	NM_000717		34	30	0	0	0	1	0	34	30					A	58233957	G	A	58233957	3	1	420	1	0	0	0	0	1	0	0	0	2518	1087	38	1	159	1	CA4	17	58233957	Missense_Mutation	SNP	G	TCGA-VP-A87K-01A-11D-A34U-08		58233957	22961253	36	20357											
SGSH	6448	broad.mit.edu	37	chr17	78187632	78187632	+	Frame_Shift_Del	DEL	T	T	-																															tgcggccgacggtggtgtacTgagcggccaggtcggctcgg																										TCGA-VP-A87K-01A-11D-A34U-08	TCGA-VP-A87K-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd313ed-de0b-435e-864c-1169b729acaf	abe6e709-1d51-4e6b-92a2-7e5c49b553ab	g.chr17:78187632delT	ENST00000326317.6	-	6	802	c.716delA	c.(715-717)cagfs	p.Q239fs	SGSH_ENST00000570923.1_Frame_Shift_Del_p.S251fs|SGSH_ENST00000572208.1_5'UTR|SGSH_ENST00000534910.1_Frame_Shift_Del_p.Q36fs	NM_000199.3	NP_000190.1	P51688	SPHM_HUMAN	N-sulfoglucosamine sulfohydrolase	239					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|proteoglycan metabolic process (GO:0006029)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)	catalytic activity (GO:0003824)|metal ion binding (GO:0046872)|N-sulfoglucosamine sulfohydrolase activity (GO:0016250)|sulfuric ester hydrolase activity (GO:0008484)			central_nervous_system(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	10	all_neural(118;0.0952)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.0908)			GGTGGTGTACTGAGCGGCCAG	0.706																																						ENST00000326317.6																			0				central_nervous_system(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	10						c.(715-717)cgfs		N-sulfoglucosamine sulfohydrolase							22	28	26					17																	78187632		2199	4296	6495	SO:0001589	frameshift_variant	6448				proteoglycan metabolic process	lysosome	metal ion binding|N-sulfoglucosamine sulfohydrolase activity|sulfuric ester hydrolase activity	g.chr17:78187632delT	BC047318	CCDS11770.1	17q25.3	2011-11-08	2008-07-31			ENSG00000181523	3.10.1.1		10818	protein-coding gene	gene with protein product	"sulfamidase", "mucopolysaccharidosis type IIIA"	605270				7493035	Standard	NM_000199		Approved	HSS, MPS3A, SFMD	uc002jxz.4	P51688		ENST00000326317.6:c.716delA	17.37:g.78187632delT	ENSP00000314606:p.Gln239fs					SGSH_ENST00000572208.1_5'UTR|SGSH_ENST00000570923.1_Frame_Shift_Del_p.S251fs|SGSH_ENST00000534910.1_Frame_Shift_Del_p.Q36fs	p.Q239fs	NM_000199.3	NP_000190.1	P51688	SPHM_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.0908)		6	802	-	all_neural(118;0.0952)		239					A8K5E2	Frame_Shift_Del	DEL	ENST00000326317.6	37	c.716delA	CCDS11770.1																																																																																				0.706	SGSH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437695.1	NM_000199		2	4						2	4	---	---	---	---	-	78187632	T	-	78187632	7	5	420	1	0	1	0	1	0	0	0	0	14221	1580	55	0	804	0	SGSH	17	78187632	Frame_Shift_Del	DEL	T	TCGA-VP-A87K-01A-11D-A34U-08	19953675	78187632	3007578	37	20358											
ZNF99	7652	broad.mit.edu	37	chr19	22940575	22940575	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gttgaggactggctaaaagcTttgccacattcttcacattt	10	14	8	9	0	2	1	1	1	1	0	2	2	2	2	1	2	2	3	1	2	2	6	rs554899706		TCGA-VP-A87K-01A-11D-A34U-08	TCGA-VP-A87K-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd313ed-de0b-435e-864c-1169b729acaf	abe6e709-1d51-4e6b-92a2-7e5c49b553ab	g.chr19:22940575T>C	ENST00000596209.1	-	4	2226	c.2136A>G	c.(2134-2136)aaA>aaG	p.K712K	CTC-451A6.4_ENST00000442497.2_lincRNA|ZNF99_ENST00000397104.3_Silent_p.K621K	NM_001080409.2	NP_001073878.2	A8MXY4	ZNF99_HUMAN	zinc finger protein 99	712					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.K621K(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				GGCTAAAAGCTTTGCCACATT	0.378																																						ENST00000397104.3																			1	Substitution - coding silent(1)	p.K621K(1)	lung(1)	NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124						c.(1861-1863)aaA>aaG		zinc finger protein 99							42	45	44					19																	22940575		2081	4217	6298	SO:0001819	synonymous_variant	7652							g.chr19:22940575T>C	BC021822	CCDS59369.1	19p12	2013-01-08	2006-01-17		ENSG00000213973	ENSG00000213973		"Zinc fingers, C2H2-type", "-"	13175	protein-coding gene	gene with protein product		603981	"zinc finger protein 99 (F8281)", "chromosome 19 open reading frame 9"	C19orf9			Standard	NM_001080409		Approved	MGC24986	uc021urt.1	A8MXY4		ENST00000596209.1:c.2136A>G	19.37:g.22940575T>C						ZNF99_ENST00000596209.1_Silent_p.K712K	p.K621K							5	1862	-		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)						M0R335	Silent	SNP	ENST00000596209.1	37	c.1863A>G	CCDS59369.1																																																																																				0.378	ZNF99-001	NOVEL	not_best_in_genome_evidence|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000464591.1	XM_065124		4	90	0	0	0	1	0	4	90					C	22940575	T	C	22940575	2	2	420	1	0	0	0	0	0	0	0	1	18201	1606	56	4		4	ZNF99	19	22940575	Silent	SNP	T	TCGA-VP-A87K-01A-11D-A34U-08		22940575	36188408	38	20359											
TULP2	7288	broad.mit.edu	37	chr19	49399726	49399726	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcctcccgcagacaagagcGccaaagccacggggaagcgt	11	3	12	15	4	0	2	0	0	0	2	2	3	2	3	4	2	3	1	4	2	3	0			TCGA-VP-A87K-01A-11D-A34U-08	TCGA-VP-A87K-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd313ed-de0b-435e-864c-1169b729acaf	abe6e709-1d51-4e6b-92a2-7e5c49b553ab	g.chr19:49399726G>A	ENST00000221399.3	-	4	316	c.172C>T	c.(172-174)Cgc>Tgc	p.R58C		NM_003323.2	NP_003314.2	O00295	TULP2_HUMAN	tubby like protein 2	58					visual perception (GO:0007601)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)	protein complex binding (GO:0032403)			NS(1)|breast(2)|central_nervous_system(2)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(2)	22		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000259)|all cancers(93;0.000435)|Epithelial(262;0.0221)|GBM - Glioblastoma multiforme(486;0.0234)		AGACAAGAGCGCCAAAGCCAC	0.637																																						ENST00000221399.3																			0				NS(1)|breast(2)|central_nervous_system(2)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(2)	22						c.(172-174)Cgc>Tgc		tubby like protein 2							45	47	46					19																	49399726		2203	4300	6503	SO:0001583	missense	7288				visual perception	cytoplasm|extracellular region		g.chr19:49399726G>A	U82469	CCDS12739.1	19q13.1	2009-08-06			ENSG00000104804	ENSG00000104804			12424	protein-coding gene	gene with protein product	"cancer/testis antigen 65"	602309				9096357	Standard	NM_003323		Approved	TUBL2, CT65	uc002pkz.2	O00295	OTTHUMG00000164406	ENST00000221399.3:c.172C>T	19.37:g.49399726G>A	ENSP00000221399:p.Arg58Cys						p.R58C	NM_003323.2	NP_003314.2	O00295	TULP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000259)|all cancers(93;0.000435)|Epithelial(262;0.0221)|GBM - Glioblastoma multiforme(486;0.0234)	4	316	-		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)	58					Q8TC50	Missense_Mutation	SNP	ENST00000221399.3	37	c.172C>T	CCDS12739.1	.	.	.	.	.	.	.	.	.	.	G	17.18	3.323221	0.60634	.	.	ENSG00000104804	ENST00000221399;ENST00000518572;ENST00000522945;ENST00000520977;ENST00000522229	D;T;T;T	0.86562	-2.14;1.52;0.82;0.27	5.03	2.78	0.32641	Tubby, N-terminal (1);	0.678460	0.13857	N	0.357935	D	0.88887	0.6559	L	0.56199	1.76	0.19300	N	0.999977	D	0.76494	0.999	P	0.57324	0.818	T	0.79313	-0.1855	10	0.56958	D	0.05	-1.6322	9.8786	0.41220	0.0:0.1519:0.6906:0.1575	.	58	O00295	TULP2_HUMAN	C	58;58;58;39;14	ENSP00000221399:R58C;ENSP00000428420:R58C;ENSP00000430040:R58C;ENSP00000428535:R39C	ENSP00000221399:R58C	R	-	1	0	TULP2	54091538	0.025000	0.19082	0.008000	0.14137	0.009000	0.06853	0.972000	0.29409	0.574000	0.29417	0.596000	0.82720	CGC		0.637	TULP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378633.1	NM_003323		3	32	0	0	0	1	0	3	32					A	49399726	G	A	49399726	3	1	420	1	0	0	0	0	1	0	0	0	16771	1087	38	1	1430	1	TULP2	19	49399726	Missense_Mutation	SNP	G	TCGA-VP-A87K-01A-11D-A34U-08	26459151	49399726	9729257	39	20360											
MCM8	84515	broad.mit.edu	37	chr20	5965438	5965438	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccttcatagaatggggagtgCactactatccagatttgatt	11	13	9	8	0	1	3	1	1	0	2	2	4	2	4	2	2	2	1	2	2	4	6			TCGA-VP-A87K-01A-11D-A34U-08	TCGA-VP-A87K-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd313ed-de0b-435e-864c-1169b729acaf	abe6e709-1d51-4e6b-92a2-7e5c49b553ab	g.chr20:5965438C>A	ENST00000378896.3	+	15	2122	c.1745C>A	c.(1744-1746)gCa>gAa	p.A582E	MCM8_ENST00000265187.4_Missense_Mutation_p.A566E|MCM8_ENST00000378883.1_Missense_Mutation_p.A535E|MCM8_ENST00000378886.2_Missense_Mutation_p.A622E	NM_001281520.1|NM_032485.4|NM_182802.1	NP_001268449.1|NP_115874.3|NP_877954.1	Q9UJA3	MCM8_HUMAN	minichromosome maintenance complex component 8	582	MCM.				cellular response to DNA damage stimulus (GO:0006974)|DNA replication (GO:0006260)|DNA strand elongation involved in DNA replication (GO:0006271)|double-strand break repair via homologous recombination (GO:0000724)|female gamete generation (GO:0007292)|G1/S transition of mitotic cell cycle (GO:0000082)|male gamete generation (GO:0048232)|mitotic cell cycle (GO:0000278)	MCM8-MCM9 complex (GO:0097362)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	23						ATGGGGAGTGCACTACTATCC	0.353																																						ENST00000378896.3																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	23						c.(1744-1746)gCa>gAa		minichromosome maintenance complex component 8							147	135	139					20																	5965438		2203	4300	6503	SO:0001583	missense	84515				cell cycle checkpoint|DNA strand elongation involved in DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|regulation of transcription, DNA-dependent|S phase of mitotic cell cycle|transcription, DNA-dependent	nucleoplasm	ATP binding|DNA binding|nucleoside-triphosphatase activity	g.chr20:5965438C>A	AJ439063	CCDS13094.1, CCDS13095.1, CCDS63226.1, CCDS63227.1	20p12.3	2007-04-04	2007-04-04	2003-07-09	ENSG00000125885	ENSG00000125885			16147	protein-coding gene	gene with protein product	"REC homolog (Drosophila)"	608187	"chromosome 20 open reading frame 154"	C20orf154		12527764	Standard	NM_032485		Approved	MGC4816, MGC12866, MGC119522, MGC119523, dJ967N21.5, REC	uc002wmi.3	Q9UJA3	OTTHUMG00000031822	ENST00000378896.3:c.1745C>A	20.37:g.5965438C>A	ENSP00000368174:p.Ala582Glu					MCM8_ENST00000265187.4_Missense_Mutation_p.A566E|MCM8_ENST00000378886.2_Missense_Mutation_p.A622E|MCM8_ENST00000378883.1_Missense_Mutation_p.A535E	p.A582E	NM_032485.4|NM_182802.1	NP_115874.3|NP_877954.1	Q9UJA3	MCM8_HUMAN			15	2122	+			582			MCM.		B2RBG7|D3DW08|E7EQU7|Q495R4|Q495R6|Q495R7|Q86US4|Q969I5	Missense_Mutation	SNP	ENST00000378896.3	37	c.1745C>A	CCDS13094.1	.	.	.	.	.	.	.	.	.	.	C	28.5	4.926575	0.92319	.	.	ENSG00000125885	ENST00000378896;ENST00000378883;ENST00000378886;ENST00000265187	T;T;T;T	0.13778	2.56;2.56;2.56;2.56	5.78	5.78	0.91487	ATPase, AAA+ type, core (1);	0.049083	0.85682	D	0.000000	T	0.49304	0.1549	M	0.91510	3.215	0.80722	D	1	D;D;P;D	0.76494	0.999;0.963;0.796;0.966	D;D;P;P	0.74674	0.984;0.931;0.826;0.892	T	0.57388	-0.7820	10	0.87932	D	0	-11.4711	20.3754	0.98918	0.0:1.0:0.0:0.0	.	535;622;566;582	Q9UJA3-2;E7EQU7;Q9UJA3-3;Q9UJA3	.;.;.;MCM8_HUMAN	E	582;535;622;566	ENSP00000368174:A582E;ENSP00000368161:A535E;ENSP00000368164:A622E;ENSP00000265187:A566E	ENSP00000265187:A566E	A	+	2	0	MCM8	5913438	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.171000	0.77595	2.894000	0.99253	0.591000	0.81541	GCA		0.353	MCM8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000077900.1	NM_032485		4	60	1	0	0.150653	1	0.150653	4	60					A	5965438	C	A	5965438	3	1	420	1	0	0	0	0	1	0	0	0	9393	710	25	5	1799	5	MCM8	20	5965438	Missense_Mutation	SNP	C	TCGA-VP-A87K-01A-11D-A34U-08		5965438	57060082	40	20361											
PLUNC	51297	broad.mit.edu	37	chr20	31825867	31825867	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acacccatttccagccctcaGcaatggcctgctgtctgggg	7	9	10	15	0	2	0	1	0	1	0	3	0	3	0	4	3	3	2	4	3	1	1	rs375396851		TCGA-VP-A87K-01A-11D-A34U-08	TCGA-VP-A87K-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd313ed-de0b-435e-864c-1169b729acaf	abe6e709-1d51-4e6b-92a2-7e5c49b553ab	g.chr20:31825867G>A	ENST00000354297.4	+	3	238	c.167G>A	c.(166-168)aGc>aAc	p.S56N	BPIFA1_ENST00000375422.2_Missense_Mutation_p.S56N|BPIFA1_ENST00000375413.4_Missense_Mutation_p.S56N	NM_130852.2	NP_570913.1	Q9NP55	BPIA1_HUMAN	BPI fold containing family A, member 1	56					antibacterial humoral response (GO:0019731)|innate immune response (GO:0045087)|multicellular organismal water homeostasis (GO:0050891)|negative regulation of single-species biofilm formation in or on host organism (GO:1900229)|regulation of liquid surface tension (GO:0050828)|regulation of sodium ion transmembrane transport (GO:1902305)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	lipid binding (GO:0008289)										CCAGCCCTCAGCAATGGCCTG	0.602																																						ENST00000354297.4																			0											c.(166-168)aGc>aAc		BPI fold containing family A, member 1		G	ASN/SER,ASN/SER	1,4405	2.1+/-5.4	0,1,2202	44	45	45		167,167	0.9	1	20		45	0,8600		0,0,4300	no	missense,missense	BPIFA1	NM_016583.3,NM_130852.2	46,46	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign,benign	56/257,56/257	31825867	1,13005	2203	4300	6503	SO:0001583	missense	51297				innate immune response	extracellular region	lipid binding	g.chr20:31825867G>A	AB024937	CCDS13217.1	20q11.21	2011-08-04	2011-07-29	2011-07-29	ENSG00000198183	ENSG00000198183		"BPI fold containing"	15749	protein-coding gene	gene with protein product		607412	"palate, lung and nasal epithelium carcinoma associated", "palate, lung and nasal epithelium associated"	PLUNC		11018263, 11251963, 21787333	Standard	NM_130852		Approved	LUNX, bA49G10.5, SPLUNC1	uc002wyv.3	Q9NP55	OTTHUMG00000032243	ENST00000354297.4:c.167G>A	20.37:g.31825867G>A	ENSP00000346251:p.Ser56Asn					BPIFA1_ENST00000375422.2_Missense_Mutation_p.S56N|BPIFA1_ENST00000375413.4_Missense_Mutation_p.S56N	p.S56N	NM_130852.2	NP_570913.1	Q9NP55	PLUNC_HUMAN			3	238	+			56					A8K9R3|E1P5M9|Q9NZT0	Missense_Mutation	SNP	ENST00000354297.4	37	c.167G>A	CCDS13217.1	.	.	.	.	.	.	.	.	.	.	G	11.03	1.519514	0.27211	2.27E-4	0.0	ENSG00000198183	ENST00000375422;ENST00000354297;ENST00000375413;ENST00000544328	T;T;T	0.12672	2.66;2.66;2.66	5.54	0.896	0.19253	.	0.543878	0.19203	N	0.120125	T	0.14657	0.0354	M	0.61703	1.905	0.23798	N	0.996814	P	0.39665	0.682	B	0.35550	0.205	T	0.15150	-1.0447	10	0.23891	T	0.37	-7.2081	16.3214	0.82952	0.0:0.7321:0.2679:0.0	.	56	Q9NP55	BPIA1_HUMAN	N	56;56;56;42	ENSP00000364571:S56N;ENSP00000346251:S56N;ENSP00000364562:S56N	ENSP00000346251:S56N	S	+	2	0	BPIFA1	31289528	0.297000	0.24408	0.971000	0.41717	0.417000	0.31264	0.310000	0.19356	0.348000	0.23949	0.655000	0.94253	AGC		0.602	BPIFA1-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078667.2	NM_130852		15	22	0	0	0	1	0	15	22					A	31825867	G	A	31825867	3	1	420	1	0	0	0	0	1	0	0	0	12115	971	34	3	173	3	PLUNC	20	31825867	Missense_Mutation	SNP	G	TCGA-VP-A87K-01A-11D-A34U-08	25860429	31825867	31199653	41	20362											
ZBTB46	140685	broad.mit.edu	37	chr20	62421621	62421621	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccacggggagatgctcctccCagccatcacggccgagatga	9	5	12	15	3	1	3	1	1	0	2	3	5	3	3	5	3	2	1	5	3	0	0			TCGA-VP-A87K-01A-11D-A34U-08	TCGA-VP-A87K-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd313ed-de0b-435e-864c-1169b729acaf	abe6e709-1d51-4e6b-92a2-7e5c49b553ab	g.chr20:62421621C>T	ENST00000245663.4	-	2	640	c.490G>A	c.(490-492)Ggg>Agg	p.G164R	ZBTB46_ENST00000302995.2_Missense_Mutation_p.G164R|ZBTB46_ENST00000480766.1_5'Flank|ZBTB46_ENST00000395104.1_Missense_Mutation_p.G164R	NM_025224.3	NP_079500.2	Q86UZ6	ZBT46_HUMAN	zinc finger and BTB domain containing 46	164					negative regulation of dendritic cell differentiation (GO:2001199)|negative regulation of granulocyte differentiation (GO:0030853)|negative regulation of macrophage differentiation (GO:0045650)|negative regulation of monocyte differentiation (GO:0045656)|positive regulation of dendritic cell differentiation (GO:2001200)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			endometrium(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	24	all_cancers(38;2.09e-12)|all_epithelial(29;3.8e-14)|Lung NSC(23;7.61e-10)|all_lung(23;2.64e-09)					ATGCTCCTCCCAGCCATCACG	0.637																																						ENST00000245663.4																			0				endometrium(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	24						c.(490-492)Ggg>Agg		zinc finger and BTB domain containing 46							26	24	24					20																	62421621		2203	4300	6503	SO:0001583	missense	140685				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	g.chr20:62421621C>T	AK131482	CCDS13538.1	20q13.33	2013-01-08	2006-09-19	2006-09-19	ENSG00000130584	ENSG00000130584		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	16094	protein-coding gene	gene with protein product	"BTB-ZF protein expressed in effector lymphocytes"	614639	"BTB (POZ) domain containing 4"	ZNF340, BTBD4			Standard	NM_025224		Approved	FLJ13502, RINZF, BZEL	uc002ygv.2	Q86UZ6	OTTHUMG00000033001	ENST00000245663.4:c.490G>A	20.37:g.62421621C>T	ENSP00000245663:p.Gly164Arg					ZBTB46_ENST00000302995.2_Missense_Mutation_p.G164R|ZBTB46_ENST00000395104.1_Missense_Mutation_p.G164R	p.G164R	NM_025224.3	NP_079500.2	Q86UZ6	ZBT46_HUMAN			2	640	-	all_cancers(38;2.09e-12)|all_epithelial(29;3.8e-14)|Lung NSC(23;7.61e-10)|all_lung(23;2.64e-09)		164					E1P5K9|Q5JWJ3|Q6GMV4|Q9BQK3|Q9H3Z8|Q9H3Z9	Missense_Mutation	SNP	ENST00000245663.4	37	c.490G>A	CCDS13538.1	.	.	.	.	.	.	.	.	.	.	C	12.33	1.904535	0.33628	.	.	ENSG00000130584	ENST00000245663;ENST00000302995;ENST00000395104	T;T;T	0.11604	2.76;2.76;2.76	5.64	4.7	0.59300	.	0.000000	0.85682	D	0.000000	T	0.22898	0.0553	M	0.61703	1.905	0.39925	D	0.974202	D	0.63880	0.993	P	0.59288	0.855	T	0.09292	-1.0681	10	0.14252	T	0.57	.	13.8305	0.63377	0.0:0.9263:0.0:0.0737	.	164	Q86UZ6	ZBT46_HUMAN	R	164	ENSP00000245663:G164R;ENSP00000303102:G164R;ENSP00000378536:G164R	ENSP00000245663:G164R	G	-	1	0	ZBTB46	61892065	1.000000	0.71417	0.092000	0.20876	0.013000	0.08279	7.372000	0.79612	1.400000	0.46741	-0.157000	0.13467	GGG		0.637	ZBTB46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080232.2	NM_025224		11	20	0	0	0	1	0	11	20					T	62421621	C	T	62421621	3	4	420	1	0	0	0	0	1	0	0	0	17544	594	21	3	1295	3	ZBTB46	20	62421621	Missense_Mutation	SNP	C	TCGA-VP-A87K-01A-11D-A34U-08	30595754	62421621	603899	42	20363											
PCNT	5116	broad.mit.edu	37	chr21	47847672	47847672	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	agatctggggggtcacagctCcctgctcgaaaggctggaga	9	7	15	10	1	2	2	1	0	1	2	4	4	3	2	1	5	2	3	1	5	1	0			TCGA-VP-A87K-01A-11D-A34U-08	TCGA-VP-A87K-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd313ed-de0b-435e-864c-1169b729acaf	abe6e709-1d51-4e6b-92a2-7e5c49b553ab	g.chr21:47847672C>T	ENST00000359568.5	+	34	7564	c.7457C>T	c.(7456-7458)tCc>tTc	p.S2486F	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	2486					brain morphogenesis (GO:0048854)|cerebellar cortex morphogenesis (GO:0021696)|cilium assembly (GO:0042384)|G2/M transition of mitotic cell cycle (GO:0000086)|in utero embryonic development (GO:0001701)|limb morphogenesis (GO:0035108)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|neural precursor cell proliferation (GO:0061351)|neuron migration (GO:0001764)|olfactory bulb development (GO:0021772)|positive regulation of intracellular protein transport (GO:0090316)|spindle organization (GO:0007051)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intercellular bridge (GO:0045171)|membrane (GO:0016020)|microtubule (GO:0005874)|motile cilium (GO:0031514)|pericentriolar material (GO:0000242)				NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					GGTCACAGCTCCCTGCTCGAA	0.607																																						ENST00000359568.5																			0				NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104						c.(7456-7458)tCc>tTc		pericentrin							65	67	66					21																	47847672		2203	4300	6503	SO:0001583	missense	5116				cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding	g.chr21:47847672C>T	AB007862	CCDS33592.1	21q22.3	2014-02-20	2008-01-30	2005-11-03	ENSG00000160299	ENSG00000160299			16068	protein-coding gene	gene with protein product	"kendrin", "Seckel syndrome 4"	605925	"pericentrin 2 (kendrin)"	PCNT2		8812505, 9455477	Standard	NM_006031		Approved	KEN, KIAA0402, PCN, PCNTB, SCKL4	uc002zji.4	O95613	OTTHUMG00000090665	ENST00000359568.5:c.7457C>T	21.37:g.47847672C>T	ENSP00000352572:p.Ser2486Phe					PCNT_ENST00000480896.1_3'UTR	p.S2486F	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN			34	7564	+	Breast(49;0.112)		2486					O43152|Q7Z7C9	Missense_Mutation	SNP	ENST00000359568.5	37	c.7457C>T	CCDS33592.1	.	.	.	.	.	.	.	.	.	.	C	0.941	-0.709547	0.03230	.	.	ENSG00000160299	ENST00000359568	T	0.01725	4.67	5.34	-0.974	0.10293	.	1.418280	0.05036	N	0.475508	T	0.01730	0.0055	N	0.25647	0.755	0.09310	N	1	B;B	0.12630	0.006;0.002	B;B	0.16722	0.016;0.001	T	0.49173	-0.8967	10	0.72032	D	0.01	.	3.2595	0.06844	0.2097:0.4542:0.2048:0.1313	.	2368;2486	O95613-2;O95613	.;PCNT_HUMAN	F	2486	ENSP00000352572:S2486F	ENSP00000352572:S2486F	S	+	2	0	PCNT	46672100	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.127000	0.15790	-0.884000	0.03976	-3.308000	0.00045	TCC		0.607	PCNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207336.1	NM_006031		7	23	0	0	0	1	0	7	23					T	47847672	C	T	47847672	3	4	420	1	0	0	0	0	1	0	0	0	11590	855	30	3	7591	3	PCNT	21	47847672	Missense_Mutation	SNP	C	TCGA-VP-A87K-01A-11D-A34U-08		47847672	282223	43	20364											
CXorf57	55086	broad.mit.edu	37	chrX	105881006	105881006	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggaggtcatagaggccagccGtatacgtatgatgccaaggt	11	8	14	8	2	1	2	1	1	0	1	1	3	1	3	3	4	3	2	3	4	5	4	rs145834842	byFrequency	TCGA-VP-A87K-01A-11D-A34U-08	TCGA-VP-A87K-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd313ed-de0b-435e-864c-1169b729acaf	abe6e709-1d51-4e6b-92a2-7e5c49b553ab	g.chrX:105881006G>A	ENST00000372548.4	+	8	1534	c.1425G>A	c.(1423-1425)ccG>ccA	p.P475P	MIR548AN_ENST00000408286.2_RNA|CXorf57_ENST00000372544.2_Silent_p.P475P	NM_018015.5	NP_060485.4	Q6NSI4	CX057_HUMAN	chromosome X open reading frame 57	475							poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(6)|lung(11)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	31						GAGGCCAGCCGTATACGTATG	0.368																																						ENST00000372548.4																			0				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(6)|lung(11)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	31						c.(1423-1425)ccG>ccA		chromosome X open reading frame 57		G	,	1,3834		0,0,1,1632,570	69	62	65		1425,1425	-8.8	0	X	dbSNP_134	65	1,6727		0,0,1,2428,1871	no	coding-synonymous,coding-synonymous	CXorf57	NM_001184782.1,NM_018015.5	,	0,0,2,4060,2441	AA,AG,A,GG,G		0.0149,0.0261,0.0189	,	475/759,475/856	105881006	2,10561	2203	4300	6503	SO:0001819	synonymous_variant	55086							g.chrX:105881006G>A	AK024253	CCDS14519.1, CCDS55470.1	Xq22.3	2008-02-05			ENSG00000147231	ENSG00000147231			25486	protein-coding gene	gene with protein product							Standard	NM_018015		Approved	FLJ14191, FLJ10178	uc004emi.4	Q6NSI4	OTTHUMG00000022150	ENST00000372548.4:c.1425G>A	X.37:g.105881006G>A						CXorf57_ENST00000372544.2_Silent_p.P475P	p.P475P	NM_018015.5	NP_060485.4	Q6NSI4	CX057_HUMAN			8	1534	+			475					H7BY89|Q4G0L7|Q5JQS1|Q5JRF9|Q6PHY5|Q6PII9|Q6PJU8|Q9H7W5|Q9NWA6	Silent	SNP	ENST00000372548.4	37	c.1425G>A	CCDS14519.1																																																																																				0.368	CXorf57-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057800.2	NM_018015		3	32	0	0	0	1	0	3	32					A	105881006	G	A	105881006	2	1	420	1	0	0	0	0	0	0	0	1	4113	1132	40	1		1	CXorf57	23	105881006	Silent	SNP	G	TCGA-VP-A87K-01A-11D-A34U-08		105881006	49389554	44	20365											
OBSCN	84033	broad.mit.edu	37	chr1	228494135	228494135	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggaggagggctccacggccAccctgcagtgtgagctgtct	6	7	15	13	2	1	1	0	1	1	0	2	3	2	3	3	4	2	3	3	4	0	0			TCGA-VP-AA1N-01A-31D-A41K-08	TCGA-VP-AA1N-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdd3c350-9cd0-45f3-a822-6174c4edfba0	df551c39-d578-49ea-8e80-24c14dbb340d	g.chr1:228494135A>C	ENST00000422127.1	+	44	11766	c.11722A>C	c.(11722-11724)Acc>Ccc	p.T3908P	OBSCN_ENST00000366707.4_Missense_Mutation_p.T1542P|OBSCN_ENST00000284548.11_Missense_Mutation_p.T3908P|OBSCN_ENST00000570156.2_Missense_Mutation_p.T4865P|OBSCN_ENST00000366709.4_Missense_Mutation_p.T1027P	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	3908	Ig-like 40.				apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CTCCACGGCCACCCTGCAGTG	0.682																																						ENST00000570156.2																			0				NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223						c.(14593-14595)Acc>Ccc		obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF							14	17	16					1																	228494135		1928	4094	6022	SO:0001583	missense	84033				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	g.chr1:228494135A>C	AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"Rho guanine nucleotide exchange factors", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.11722A>C	1.37:g.228494135A>C	ENSP00000409493:p.Thr3908Pro					OBSCN_ENST00000284548.11_Missense_Mutation_p.T3908P|OBSCN_ENST00000422127.1_Missense_Mutation_p.T3908P|OBSCN_ENST00000366709.4_Missense_Mutation_p.T1027P|OBSCN_ENST00000366707.4_Missense_Mutation_p.T1542P	p.T4865P	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN			55	14667	+		Prostate(94;0.0405)	3908					Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Missense_Mutation	SNP	ENST00000422127.1	37	c.14593A>C	CCDS58065.1	.	.	.	.	.	.	.	.	.	.	A	12.66	2.004232	0.35320	.	.	ENSG00000154358	ENST00000284548;ENST00000422127;ENST00000366707;ENST00000366709	T;T;T;T	0.05855	3.38;3.38;3.38;3.38	4.76	-1.09	0.09904	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	1.660230	0.03002	N	0.148364	T	0.24967	0.0606	M	0.91510	3.215	0.19775	N	0.999956	D;D	0.60160	0.987;0.957	P;P	0.61592	0.891;0.826	T	0.16660	-1.0395	10	0.49607	T	0.09	.	2.2918	0.04140	0.4947:0.1272:0.073:0.3051	.	3908;3908	Q5VST9;Q5VST9-3	OBSCN_HUMAN;.	P	3908;3908;1542;1027	ENSP00000284548:T3908P;ENSP00000409493:T3908P;ENSP00000355668:T1542P;ENSP00000355670:T1027P	ENSP00000284548:T3908P	T	+	1	0	OBSCN	226560758	0.000000	0.05858	0.008000	0.14137	0.011000	0.07611	-0.122000	0.10627	-0.376000	0.07943	-0.695000	0.03696	ACC		0.682	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843		8	20	0	0	0	1	0	8	20					C	228494135	A	C	228494135	3	2	421	1	0	0	0	0	1	0	0	0	10812	159	6	5	11892	5	OBSCN	1	228494135	Missense_Mutation	SNP	A	TCGA-VP-AA1N-01A-31D-A41K-08		228494135	20756486	1	20366											
HEATR5B	54497	broad.mit.edu	37	chr2	37255199	37255199	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggcccagcgaggggccacAaagggctttgatttatcttc	8	10	13	10	1	1	1	0	1	1	0	2	2	1	1	2	4	1	1	2	4	2	4			TCGA-VP-AA1N-01A-31D-A41K-08	TCGA-VP-AA1N-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdd3c350-9cd0-45f3-a822-6174c4edfba0	df551c39-d578-49ea-8e80-24c14dbb340d	g.chr2:37255199A>G	ENST00000233099.5	-	24	3815	c.3720T>C	c.(3718-3720)ttT>ttC	p.F1240F	HEATR5B_ENST00000354531.2_Silent_p.F1240F	NM_019024.1	NP_061897.1	Q9P2D3	HTR5B_HUMAN	HEAT repeat containing 5B	1240						extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)				breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	77		all_hematologic(82;0.21)				GAGGGGCCACAAAGGGCTTTG	0.443																																						ENST00000233099.5																			0				breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	77						c.(3718-3720)ttT>ttC		HEAT repeat containing 5B							97	103	101					2																	37255199		2203	4300	6503	SO:0001819	synonymous_variant	54497						binding	g.chr2:37255199A>G	AB037835	CCDS33181.1	2p22.2	2007-01-02			ENSG00000008869	ENSG00000008869			29273	protein-coding gene	gene with protein product						10718198	Standard	XM_005264379		Approved	KIAA1414, DKFZp686P15184	uc002rpp.1	Q9P2D3	OTTHUMG00000152158	ENST00000233099.5:c.3720T>C	2.37:g.37255199A>G						HEATR5B_ENST00000354531.2_Silent_p.F1240F	p.F1240F	NM_019024.1	NP_061897.1	Q9P2D3	HTR5B_HUMAN			24	3815	-		all_hematologic(82;0.21)	1240					B5MDU8|Q7Z3B2|Q9NVL7	Silent	SNP	ENST00000233099.5	37	c.3720T>C	CCDS33181.1																																																																																				0.443	HEATR5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325492.1	NM_019024		15	31	0	0	0	1	0	15	31					G	37255199	A	G	37255199	2	3	421	1	0	0	0	0	0	0	0	1	7032	127	5	4		4	HEATR5B	2	37255199	Silent	SNP	A	TCGA-VP-AA1N-01A-31D-A41K-08		37255199	205944174	2	20367											
BARD1	580	broad.mit.edu	37	chr2	215617196	215617196	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agcagtggctagctgaggatGattcattcttctctggtagc	8	13	12	8	0	3	2	1	2	2	0	4	3	3	3	0	3	3	4	0	3	2	5	rs587781707		TCGA-VP-AA1N-01A-31D-A41K-08	TCGA-VP-AA1N-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdd3c350-9cd0-45f3-a822-6174c4edfba0	df551c39-d578-49ea-8e80-24c14dbb340d	g.chr2:215617196G>A	ENST00000260947.4	-	7	1786	c.1652C>T	c.(1651-1653)tCa>tTa	p.S551L	BARD1_ENST00000449967.2_Missense_Mutation_p.S407L	NM_000465.2|NM_001282543.1|NM_001282545.1|NM_001282548.1	NP_000456.2|NP_001269472.1|NP_001269474.1|NP_001269477.1	Q99728	BARD1_HUMAN	BRCA1 associated RING domain 1	551					cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|negative regulation of apoptotic process (GO:0043066)|negative regulation of mRNA 3'-end processing (GO:0031441)|negative regulation of protein export from nucleus (GO:0046826)|positive regulation of apoptotic process (GO:0043065)|positive regulation of protein catabolic process (GO:0045732)|protein K6-linked ubiquitination (GO:0085020)|protein ubiquitination (GO:0016567)|regulation of phosphorylation (GO:0042325)|tissue homeostasis (GO:0001894)	BRCA1-A complex (GO:0070531)|BRCA1-BARD1 complex (GO:0031436)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	kinase binding (GO:0019900)|ligase activity (GO:0016874)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|RNA binding (GO:0003723)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(2)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|prostate(4)|upper_aerodigestive_tract(1)	35		Renal(323;0.0243)		Epithelial(149;3.2e-06)|all cancers(144;0.000461)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		AGCTGAGGATGATTCATTCTT	0.338									Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome																													ENST00000260947.4																			0				NS(2)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|prostate(4)|upper_aerodigestive_tract(1)	35						c.(1651-1653)tCa>tTa		BRCA1 associated RING domain 1							104	100	102					2																	215617196		2203	4300	6503	SO:0001583	missense	580	Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome	Familial Cancer Database	Familial Neuroblastoma;CCHS, Ondine Curse, incl. Ondine-Hirschsprung Disease	cell cycle arrest|DNA repair|negative regulation of apoptosis|negative regulation of mRNA 3'-end processing|negative regulation of protein export from nucleus|positive regulation of apoptosis|positive regulation of protein catabolic process|protein K6-linked ubiquitination|regulation of phosphorylation|tissue homeostasis	BRCA1-A complex|BRCA1-BARD1 complex|cytoplasm	kinase binding|protein heterodimerization activity|protein homodimerization activity|RNA binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr2:215617196G>A		CCDS2397.1, CCDS74645.1, CCDS74646.1, CCDS74647.1, CCDS74648.1	2q34-q35	2013-01-10			ENSG00000138376	ENSG00000138376		"Ankyrin repeat domain containing"	952	protein-coding gene	gene with protein product		601593				8944023, 9425226, 15159397	Standard	NM_001282548		Approved		uc002veu.2	Q99728	OTTHUMG00000133016	ENST00000260947.4:c.1652C>T	2.37:g.215617196G>A	ENSP00000260947:p.Ser551Leu					BARD1_ENST00000449967.2_Missense_Mutation_p.S407L	p.S551L	NM_000465.2	NP_000456.2	Q99728	BARD1_HUMAN		Epithelial(149;3.2e-06)|all cancers(144;0.000461)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)	7	1786	-		Renal(323;0.0243)	551					F6MDH7|F6MDH8|F6MDH9|O43574|Q53SS5	Missense_Mutation	SNP	ENST00000260947.4	37	c.1652C>T	CCDS2397.1	.	.	.	.	.	.	.	.	.	.	G	10.59	1.391718	0.25118	.	.	ENSG00000138376	ENST00000260947;ENST00000449967;ENST00000421162	T;T;D	0.85773	-0.86;-0.22;-2.03	4.44	3.53	0.40419	.	1.109350	0.06822	N	0.792369	T	0.80565	0.4647	L	0.38531	1.155	0.36134	D	0.846331	B;B	0.25521	0.128;0.039	B;B	0.25614	0.062;0.024	T	0.72308	-0.4332	10	0.40728	T	0.16	-1.2644	11.8954	0.52654	0.0871:0.0:0.9129:0.0	.	407;551	E7EUI3;Q99728	.;BARD1_HUMAN	L	551;407;100	ENSP00000260947:S551L;ENSP00000406752:S407L;ENSP00000392245:S100L	ENSP00000260947:S551L	S	-	2	0	BARD1	215325441	1.000000	0.71417	0.987000	0.45799	0.245000	0.25701	1.948000	0.40303	2.306000	0.77630	0.460000	0.39030	TCA		0.338	BARD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256602.1	NM_000465		46	70	0	0	0	1	0	46	70					A	215617196	G	A	215617196	3	1	421	1	0	0	0	0	1	0	0	0	1312	1294	45	3	701	3	BARD1	2	215617196	Missense_Mutation	SNP	G	TCGA-VP-AA1N-01A-31D-A41K-08	178361997	215617196	27582177	3	20368											
B3GNT7	93010	broad.mit.edu	37	chr2	232263298	232263298	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acatcccgggggccctgtacGgcaaggccagctatccgccg	7	5	13	16	4	0	0	0	0	0	0	2	0	2	0	5	4	2	3	5	4	3	2			TCGA-VP-AA1N-01A-31D-A41K-08	TCGA-VP-AA1N-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdd3c350-9cd0-45f3-a822-6174c4edfba0	df551c39-d578-49ea-8e80-24c14dbb340d	g.chr2:232263298G>A	ENST00000287590.5	+	2	1129	c.868G>A	c.(868-870)Ggc>Agc	p.G290S		NM_145236.2	NP_660279.1	Q8NFL0	B3GN7_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 7	290					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	galactosyltransferase activity (GO:0008378)			endometrium(2)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(1)	17		Renal(207;0.025)|all_hematologic(139;0.094)|Acute lymphoblastic leukemia(138;0.164)|Medulloblastoma(418;0.232)		Epithelial(121;3.22e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0139)		GGCCCTGTACGGCAAGGCCAG	0.652																																						ENST00000287590.5																			0				endometrium(2)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(1)	17						c.(868-870)Ggc>Agc		UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 7							26	32	30					2																	232263298		1980	4135	6115	SO:0001583	missense	93010				protein glycosylation	Golgi membrane|integral to membrane	galactosyltransferase activity	g.chr2:232263298G>A	AK000770	CCDS46540.1	2q36.1	2013-02-21			ENSG00000156966	ENSG00000156966		"Beta 3-glycosyltransferases"	18811	protein-coding gene	gene with protein product		615313				12061784	Standard	NM_145236		Approved	beta3GnT7	uc002vrs.3	Q8NFL0	OTTHUMG00000153880	ENST00000287590.5:c.868G>A	2.37:g.232263298G>A	ENSP00000287590:p.Gly290Ser						p.G290S	NM_145236.2	NP_660279.1	Q8NFL0	B3GN7_HUMAN		Epithelial(121;3.22e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0139)	2	1129	+		Renal(207;0.025)|all_hematologic(139;0.094)|Acute lymphoblastic leukemia(138;0.164)|Medulloblastoma(418;0.232)	290					B3KWY4|B7WNP0	Missense_Mutation	SNP	ENST00000287590.5	37	c.868G>A	CCDS46540.1	.	.	.	.	.	.	.	.	.	.	A	3.852	-0.031659	0.07543	.	.	ENSG00000156966	ENST00000287590	T	0.39997	1.05	5.05	-2.02	0.07388	.	0.375457	0.32719	N	0.005731	T	0.11665	0.0284	N	0.02315	-0.6	0.21184	N	0.999762	B	0.06786	0.001	B	0.08055	0.003	T	0.31613	-0.9937	10	0.02654	T	1	.	6.8968	0.24260	0.5319:0.1189:0.3492:0.0	.	290	Q8NFL0	B3GN7_HUMAN	S	290	ENSP00000287590:G290S	ENSP00000287590:G290S	G	+	1	0	B3GNT7	231971542	1.000000	0.71417	0.434000	0.26772	0.186000	0.23388	1.457000	0.35212	-0.642000	0.05480	-0.361000	0.07541	GGC		0.652	B3GNT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332827.1	NM_145236		6	28	0	0	0	1	0	6	28					A	232263298	G	A	232263298	3	1	421	1	0	0	0	0	1	0	0	0	1262	1116	39	2	874	2	B3GNT7	2	232263298	Missense_Mutation	SNP	G	TCGA-VP-AA1N-01A-31D-A41K-08	16646102	232263298	10936075	4	20369											
SLC22A13	9390	broad.mit.edu	37	chr3	38316585	38316585	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gggactcgcctacggtttccGcaactggaggctccttcaga	7	9	12	13	3	1	1	1	0	0	1	4	3	3	3	3	4	2	3	3	4	2	3	rs542608978		TCGA-VP-AA1N-01A-31D-A41K-08	TCGA-VP-AA1N-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdd3c350-9cd0-45f3-a822-6174c4edfba0	df551c39-d578-49ea-8e80-24c14dbb340d	g.chr3:38316585G>A	ENST00000311856.4	+	4	792	c.743G>A	c.(742-744)cGc>cAc	p.R248H	SLC22A13_ENST00000450935.2_Silent_p.P155P	NM_004256.3	NP_004247.2	Q9Y226	S22AD_HUMAN	solute carrier family 22 (organic anion/urate transporter), member 13	248					nicotinate transport (GO:2001142)|organic cation transport (GO:0015695)|urate transport (GO:0015747)	apical plasma membrane (GO:0016324)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	nicotinate transporter activity (GO:0090416)|organic cation transmembrane transporter activity (GO:0015101)			cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|urinary_tract(1)	20				KIRC - Kidney renal clear cell carcinoma(284;0.0533)|Kidney(284;0.067)		TACGGTTTCCGCAACTGGAGG	0.617													G|||	1	0.000199681	0	0	5008	,	,		20088	0		0	False		,,,				2504	0.001					ENST00000311856.4																			0				cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|urinary_tract(1)	20						c.(742-744)cGc>cAc		solute carrier family 22 (organic anion/urate transporter), member 13							134	133	133					3																	38316585		2203	4300	6503	SO:0001583	missense	9390					integral to plasma membrane	organic cation transmembrane transporter activity	g.chr3:38316585G>A	AB010438	CCDS2676.1	3p22.2	2013-07-18	2013-07-18	2003-10-15	ENSG00000172940	ENSG00000172940		"Solute carriers"	8494	protein-coding gene	gene with protein product		604047	"organic cationic transporter-like 3", "solute carrier family 22 (organic anion transporter), member 13"	ORCTL3		10072596, 18411268	Standard	NM_004256		Approved	OCTL1, OCTL3, OAT10	uc003chz.3	Q9Y226	OTTHUMG00000131086	ENST00000311856.4:c.743G>A	3.37:g.38316585G>A	ENSP00000310241:p.Arg248His					SLC22A13_ENST00000450935.2_Silent_p.P155P	p.R248H	NM_004256.3	NP_004247.2	Q9Y226	S22AD_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0533)|Kidney(284;0.067)	4	792	+			248					B2RCV9|Q8IYG1	Missense_Mutation	SNP	ENST00000311856.4	37	c.743G>A	CCDS2676.1	.	.	.	.	.	.	.	.	.	.	G	17.03	3.284440	0.59867	.	.	ENSG00000172940	ENST00000311856	T	0.58506	0.33	4.84	-0.397	0.12423	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.190771	0.45606	D	0.000358	T	0.55641	0.1933	M	0.80982	2.52	0.09310	N	0.999999	P;P	0.40553	0.673;0.721	B;B	0.42625	0.273;0.393	T	0.51260	-0.8728	10	0.46703	T	0.11	.	6.1446	0.20278	0.2743:0.1186:0.6071:0.0	.	248;248	Q9Y226-2;Q9Y226	.;S22AD_HUMAN	H	248	ENSP00000310241:R248H	ENSP00000310241:R248H	R	+	2	0	SLC22A13	38291589	0.000000	0.05858	0.015000	0.15790	0.267000	0.26476	0.312000	0.19397	-0.321000	0.08627	0.655000	0.94253	CGC		0.617	SLC22A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253746.2	NM_004256		4	146	0	0	0	1	0	4	146					A	38316585	G	A	38316585	3	1	421	1	0	0	0	0	1	0	0	0	14444	1087	38	1	757	1	SLC22A13	3	38316585	Missense_Mutation	SNP	G	TCGA-VP-AA1N-01A-31D-A41K-08		38316585	159705845	5	20370											
ABHD6	57406	broad.mit.edu	37	chr3	58270837	58270837	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcaaggccttgtcgatgtccGcatccctcataacaacttct	9	11	7	14	2	2	0	1	0	1	0	5	1	4	0	3	1	2	2	3	1	3	3			TCGA-VP-AA1N-01A-31D-A41K-08	TCGA-VP-AA1N-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdd3c350-9cd0-45f3-a822-6174c4edfba0	df551c39-d578-49ea-8e80-24c14dbb340d	g.chr3:58270837G>T	ENST00000478253.1	+	8	1208	c.707G>T	c.(706-708)cGc>cTc	p.R236L	ABHD6_ENST00000295962.4_Missense_Mutation_p.R236L			Q9BV23	ABHD6_HUMAN	abhydrolase domain containing 6	236					long term synaptic depression (GO:0060292)|negative regulation of cell migration (GO:0030336)|regulation of endocannabinoid signaling pathway (GO:2000124)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	acylglycerol lipase activity (GO:0047372)	p.R236H(1)		NS(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1)	16				BRCA - Breast invasive adenocarcinoma(55;0.000225)|KIRC - Kidney renal clear cell carcinoma(284;0.0471)|Kidney(284;0.0589)|OV - Ovarian serous cystadenocarcinoma(275;0.209)		GTCGATGTCCGCATCCCTCAT	0.443																																						ENST00000478253.1																			1	Substitution - Missense(1)	p.R236H(1)	kidney(1)	NS(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1)	16						c.(706-708)cGc>cTc		abhydrolase domain containing 6							137	117	124					3																	58270837		2203	4300	6503	SO:0001583	missense	57406					integral to membrane	acylglycerol lipase activity	g.chr3:58270837G>T	AF225418	CCDS2887.1	3p21.2	2006-03-10			ENSG00000163686	ENSG00000163686		"Abhydrolase domain containing"	21398	protein-coding gene	gene with protein product							Standard	NM_020676		Approved		uc003djs.4	Q9BV23	OTTHUMG00000159150	ENST00000478253.1:c.707G>T	3.37:g.58270837G>T	ENSP00000420315:p.Arg236Leu					ABHD6_ENST00000295962.4_Missense_Mutation_p.R236L	p.R236L			Q9BV23	ABHD6_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000225)|KIRC - Kidney renal clear cell carcinoma(284;0.0471)|Kidney(284;0.0589)|OV - Ovarian serous cystadenocarcinoma(275;0.209)	8	1208	+			236					B2R7Y9|Q6ZMF7	Missense_Mutation	SNP	ENST00000478253.1	37	c.707G>T	CCDS2887.1	.	.	.	.	.	.	.	.	.	.	G	31	5.086104	0.94100	.	.	ENSG00000163686	ENST00000478253;ENST00000295962;ENST00000511761	T;T	0.74526	-0.85;-0.85	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	D	0.85725	0.5763	M	0.76574	2.34	0.80722	D	1	D;D	0.76494	0.999;0.998	D;D	0.74674	0.984;0.942	T	0.82673	-0.0341	10	0.27785	T	0.31	-11.2637	19.3704	0.94481	0.0:0.0:1.0:0.0	.	236;236	Q9BV23;F5H7L1	ABHD6_HUMAN;.	L	236	ENSP00000420315:R236L;ENSP00000295962:R236L	ENSP00000295962:R236L	R	+	2	0	ABHD6	58245877	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	8.134000	0.89606	2.666000	0.90696	0.655000	0.94253	CGC		0.443	ABHD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353511.1	NM_020676		4	120	1	0	0.150653	1	0.153496	4	120					T	58270837	G	T	58270837	3	4	421	1	0	0	0	0	1	0	0	0	86	1087	38	5	729	5	ABHD6	3	58270837	Missense_Mutation	SNP	G	TCGA-VP-AA1N-01A-31D-A41K-08	19954252	58270837	139751593	6	20371											
PELO	53918	broad.mit.edu	37	chr5	52096235	52096235	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccccttccttggccatgaagCtcgtgaggaagaacatcgag	10	8	11	12	2	0	3	0	2	0	1	3	5	1	4	4	2	2	1	4	2	3	2			TCGA-VP-AA1N-01A-31D-A41K-08	TCGA-VP-AA1N-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdd3c350-9cd0-45f3-a822-6174c4edfba0	df551c39-d578-49ea-8e80-24c14dbb340d	g.chr5:52096235C>T	ENST00000274311.2	+	2	992	c.7C>T	c.(7-9)Ctc>Ttc	p.L3F	ITGA1_ENST00000282588.6_Intron|ITGA1_ENST00000504086.1_Intron|PELO_ENST00000506949.1_Intron	NM_015946.4	NP_057030.3	Q9BRX2	PELO_HUMAN	pelota homolog (Drosophila)	3					cell cycle (GO:0007049)|cell division (GO:0051301)|cell proliferation (GO:0008283)|chromosome organization (GO:0051276)|nuclear-transcribed mRNA catabolic process, no-go decay (GO:0070966)|nuclear-transcribed mRNA catabolic process, non-stop decay (GO:0070481)|RNA surveillance (GO:0071025)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)	11		Lung NSC(810;4.94e-05)|Breast(144;0.0848)				GGCCATGAAGCTCGTGAGGAA	0.612																																						ENST00000274311.2																			0				breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)	11						c.(7-9)Ctc>Ttc		pelota homolog (Drosophila)							37	41	40					5																	52096235		2203	4300	6503	SO:0001583	missense	53918				cell cycle|cell division|translation	cytoplasm|nucleus	endonuclease activity|metal ion binding|protein binding	g.chr5:52096235C>T		CCDS3956.1	5q11.2	2008-07-18	2001-11-28		ENSG00000152684	ENSG00000152684			8829	protein-coding gene	gene with protein product		605757	"pelota (Drosophila) homolog"			11060452	Standard	NM_015946		Approved		uc003jos.3	Q9BRX2	OTTHUMG00000096973	ENST00000274311.2:c.7C>T	5.37:g.52096235C>T	ENSP00000274311:p.Leu3Phe					ITGA1_ENST00000504086.1_Intron|ITGA1_ENST00000282588.6_Intron|PELO_ENST00000506949.1_Intron	p.L3F	NM_015946.4	NP_057030.3	Q9BRX2	PELO_HUMAN			2	992	+		Lung NSC(810;4.94e-05)|Breast(144;0.0848)	3					Q9GZS6|Q9Y306	Missense_Mutation	SNP	ENST00000274311.2	37	c.7C>T	CCDS3956.1	.	.	.	.	.	.	.	.	.	.	C	18.60	3.658772	0.67586	.	.	ENSG00000152684	ENST00000274311	T	0.57907	0.37	5.84	5.84	0.93424	eRF1 domain 1/Pelota-like (1);	0.205352	0.32161	U	0.006500	T	0.77948	0.4207	M	0.87038	2.855	0.58432	D	0.999999	D	0.76494	0.999	D	0.77557	0.99	T	0.80533	-0.1340	10	0.72032	D	0.01	-2.0909	19.7542	0.96283	0.0:1.0:0.0:0.0	.	3	Q9BRX2	PELO_HUMAN	F	3	ENSP00000274311:L3F	ENSP00000274311:L3F	L	+	1	0	PELO	52131992	1.000000	0.71417	1.000000	0.80357	0.463000	0.32649	3.436000	0.52856	2.768000	0.95171	0.650000	0.86243	CTC		0.612	PELO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214040.1	NM_015946		6	25	0	0	0	1	0	6	25					T	52096235	C	T	52096235	3	4	421	1	0	0	0	0	1	0	0	0	11724	797	28	3	9	3	PELO	5	52096235	Missense_Mutation	SNP	C	TCGA-VP-AA1N-01A-31D-A41K-08		52096235	128819025	7	20372											
LRRC1	55227	broad.mit.edu	37	chr6	53660191	53660191	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggagctgctgctggacgccaAccagctccgcgagctgcccg	6	5	14	16	4	0	0	0	0	0	0	1	3	1	2	4	2	7	5	4	2	1	0			TCGA-VP-AA1N-01A-31D-A41K-08	TCGA-VP-AA1N-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdd3c350-9cd0-45f3-a822-6174c4edfba0	df551c39-d578-49ea-8e80-24c14dbb340d	g.chr6:53660191A>G	ENST00000370888.1	+	1	414	c.137A>G	c.(136-138)aAc>aGc	p.N46S	RP13-476E20.1_ENST00000429053.1_RNA|LRRC1_ENST00000370882.1_Missense_Mutation_p.N46S	NM_018214.4	NP_060684.4	Q9BTT6	LRRC1_HUMAN	leucine rich repeat containing 1	46						cytoplasm (GO:0005737)|membrane (GO:0016020)				cervix(1)|endometrium(3)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20	Lung NSC(77;0.0147)			BRCA - Breast invasive adenocarcinoma(397;0.0745)		CTGGACGCCAACCAGCTCCGC	0.662																																						ENST00000370888.1																			0				cervix(1)|endometrium(3)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						c.(136-138)aAc>aGc		leucine rich repeat containing 1							35	34	35					6																	53660191		2203	4300	6503	SO:0001583	missense	55227					cytoplasm|membrane		g.chr6:53660191A>G	AF332199	CCDS4953.2	6p12.2	2014-07-30	2003-11-19		ENSG00000137269	ENSG00000137269			14307	protein-coding gene	gene with protein product		608195	"leucine-rich repeat-containing 1"				Standard	NM_018214		Approved	dJ523E19.1, LANO, FLJ10775, FLJ11834	uc003pcd.1	Q9BTT6	OTTHUMG00000014885	ENST00000370888.1:c.137A>G	6.37:g.53660191A>G	ENSP00000359925:p.Asn46Ser					LRRC1_ENST00000370882.1_Missense_Mutation_p.N46S	p.N46S	NM_018214.4	NP_060684.4	Q9BTT6	LRRC1_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.0745)	1	414	+	Lung NSC(77;0.0147)		46					Q5TGN3|Q9HAC0|Q9NVF1	Missense_Mutation	SNP	ENST00000370888.1	37	c.137A>G	CCDS4953.2	.	.	.	.	.	.	.	.	.	.	A	23.8	4.464365	0.84425	.	.	ENSG00000137269	ENST00000370888;ENST00000370882	T;T	0.72615	-0.67;-0.67	4.88	3.71	0.42584	.	0.000000	0.64402	D	0.000001	T	0.80773	0.4687	M	0.89840	3.065	0.53688	D	0.999979	D	0.76494	0.999	D	0.80764	0.994	T	0.83082	-0.0137	10	0.87932	D	0	.	9.3148	0.37928	0.9126:0.0:0.0873:0.0	.	46	Q9BTT6	LRRC1_HUMAN	S	46	ENSP00000359925:N46S;ENSP00000359919:N46S	ENSP00000359919:N46S	N	+	2	0	LRRC1	53768150	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.213000	0.89758	0.692000	0.31613	0.460000	0.39030	AAC		0.662	LRRC1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040970.2	NM_025168		12	13	0	0	0	1	0	12	13					G	53660191	A	G	53660191	3	3	421	1	0	0	0	0	1	0	0	0	8966	43	2	4	139	4	LRRC1	6	53660191	Missense_Mutation	SNP	A	TCGA-VP-AA1N-01A-31D-A41K-08		53660191	117454876	8	20373											
DTX2	113878	broad.mit.edu	37	chr7	76134727	76134727	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggtggcctggaagaggcggCtcatcttcacagtgggcacg	8	7	16	10	2	3	1	2	0	1	1	3	2	3	2	1	6	0	2	1	6	1	1			TCGA-VP-AA1N-01A-31D-A41K-08	TCGA-VP-AA1N-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdd3c350-9cd0-45f3-a822-6174c4edfba0	df551c39-d578-49ea-8e80-24c14dbb340d	g.chr7:76134727C>T	ENST00000324432.5	+	12	2188	c.1678C>T	c.(1678-1680)Ctc>Ttc	p.L560F	DTX2_ENST00000430490.2_Missense_Mutation_p.L560F|DTX2_ENST00000446820.2_Missense_Mutation_p.L513F|DTX2_ENST00000446600.1_Missense_Mutation_p.L469F|DTX2_ENST00000307569.8_Missense_Mutation_p.L513F|DTX2_ENST00000413936.2_Missense_Mutation_p.L560F	NM_020892.2	NP_065943.2	Q86UW9	DTX2_HUMAN	deltex 2, E3 ubiquitin ligase	560					Notch signaling pathway (GO:0007219)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(1)|skin(1)|stomach(2)	27						GAAGAGGCGGCTCATCTTCAC	0.622																																						ENST00000324432.5																			0				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(1)|skin(1)|stomach(2)	27						c.(1678-1680)Ctc>Ttc		deltex homolog 2 (Drosophila)							77	56	63					7																	76134727		2200	4294	6494	SO:0001583	missense	113878				Notch signaling pathway	cytoplasm|nucleus	protein binding|zinc ion binding	g.chr7:76134727C>T		CCDS5587.1, CCDS43605.1	7q11.23	2014-01-28	2014-01-28		ENSG00000091073	ENSG00000091073		"RING-type (C3HC4) zinc fingers"	15973	protein-coding gene	gene with protein product		613141	"deltex (Drosophila) homolog 2", "deltex homolog 2 (Drosophila)"			12670957	Standard	NM_020892		Approved	RNF58, KIAA1528	uc003ufh.4	Q86UW9	OTTHUMG00000162594	ENST00000324432.5:c.1678C>T	7.37:g.76134727C>T	ENSP00000322885:p.Leu560Phe					DTX2_ENST00000446600.1_Missense_Mutation_p.L469F|DTX2_ENST00000430490.2_Missense_Mutation_p.L560F|DTX2_ENST00000446820.2_Missense_Mutation_p.L513F|DTX2_ENST00000307569.8_Missense_Mutation_p.L513F|DTX2_ENST00000413936.2_Missense_Mutation_p.L560F	p.L560F	NM_020892.2	NP_065943.2	Q86UW9	DTX2_HUMAN			12	2188	+			560					Q6XM87|Q6XM88|Q96H69|Q9H890|Q9P200	Missense_Mutation	SNP	ENST00000324432.5	37	c.1678C>T	CCDS5587.1	.	.	.	.	.	.	.	.	.	.	.	22.7	4.319736	0.81469	.	.	ENSG00000091073	ENST00000324432;ENST00000307569;ENST00000541989;ENST00000446600;ENST00000413936;ENST00000430490;ENST00000446820	T;T;T;T;T;T	0.64085	-0.08;-0.08;-0.08;-0.08;-0.08;-0.08	5.12	5.12	0.69794	.	0.068491	0.64402	D	0.000020	D	0.84211	0.5422	H	0.95470	3.675	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;0.996;0.999;0.999	D	0.87966	0.2733	10	0.72032	D	0.01	-30.0337	13.1356	0.59407	0.0:0.9203:0.0:0.0797	.	469;191;513;560	F5GX89;Q6P2H0;Q86UW9-2;Q86UW9	.;.;.;DTX2_HUMAN	F	560;513;469;469;560;560;513	ENSP00000322885:L560F;ENSP00000305242:L513F;ENSP00000397648:L469F;ENSP00000390218:L560F;ENSP00000411986:L560F;ENSP00000392545:L513F	ENSP00000305242:L513F	L	+	1	0	AC005522.1	75972663	1.000000	0.71417	0.904000	0.35570	0.743000	0.42351	4.780000	0.62382	2.663000	0.90544	0.651000	0.88453	CTC		0.622	DTX2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253104.2			5	4	0	0	0	1	0	5	4					T	76134727	C	T	76134727	3	4	421	1	0	0	0	0	1	0	0	0	4794	797	28	3	1712	3	DTX2	7	76134727	Missense_Mutation	SNP	C	TCGA-VP-AA1N-01A-31D-A41K-08		76134727	83003936	9	20374											
C7orf43	55262	broad.mit.edu	37	chr7	99754500	99754500	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tggagggggctgctcaccccCtctcagctgaaacaggaagt	9	7	13	12	0	2	1	2	1	1	0	3	3	2	3	2	4	3	3	2	4	2	0			TCGA-VP-AA1N-01A-31D-A41K-08	TCGA-VP-AA1N-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdd3c350-9cd0-45f3-a822-6174c4edfba0	df551c39-d578-49ea-8e80-24c14dbb340d	g.chr7:99754500C>G	ENST00000316937.3	-	6	1146	c.961G>C	c.(961-963)Ggg>Cgg	p.G321R	C7orf43_ENST00000394035.2_5'Flank|C7orf43_ENST00000457641.1_Missense_Mutation_p.G52R|MIR4658_ENST00000584344.1_RNA|C7orf43_ENST00000498638.1_5'UTR|C7orf43_ENST00000419841.1_Missense_Mutation_p.G89R	NM_018275.3	NP_060745.3	Q8WVR3	CG043_HUMAN	chromosome 7 open reading frame 43	321										breast(1)|endometrium(3)|large_intestine(3)|lung(2)|prostate(1)	10	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					TGCTCACCCCCTCTCAGCTGA	0.602																																						ENST00000316937.3																			0				breast(1)|endometrium(3)|large_intestine(3)|lung(2)|prostate(1)	10						c.(961-963)Ggg>Cgg		chromosome 7 open reading frame 43							58	67	64					7																	99754500		2202	4300	6502	SO:0001583	missense	55262							g.chr7:99754500C>G		CCDS5687.1	7q22.1	2011-11-25			ENSG00000146826	ENSG00000146826			25604	protein-coding gene	gene with protein product						12477932	Standard	NM_018275		Approved	FLJ10925	uc003utr.3	Q8WVR3	OTTHUMG00000154862	ENST00000316937.3:c.961G>C	7.37:g.99754500C>G	ENSP00000324741:p.Gly321Arg					C7orf43_ENST00000457641.1_Missense_Mutation_p.G52R|C7orf43_ENST00000419841.1_Missense_Mutation_p.G89R|C7orf43_ENST00000498638.1_5'UTR	p.G321R	NM_018275.3	NP_060745.3	Q8WVR3	CG043_HUMAN			6	1146	-	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		321					A4D2A9|D6W5U4|Q9BQJ1|Q9BUB6|Q9NV47	Missense_Mutation	SNP	ENST00000316937.3	37	c.961G>C	CCDS5687.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.14|13.14	2.148383|2.148383	0.37923|0.37923	.|.	.|.	ENSG00000146826|ENSG00000146826	ENST00000457641;ENST00000316937;ENST00000419841|ENST00000456769	T;T;T|T	0.32272|0.33216	1.46;1.46;1.46|1.42	5.43|5.43	4.52|4.52	0.55395|0.55395	.|.	0.673781|.	0.14479|.	N|.	0.317068|.	T|T	0.18173|0.18173	0.0436|0.0436	N|N	0.08118|0.08118	0|0	0.28330|0.28330	N|N	0.921831|0.921831	B;B|.	0.02656|.	0.0;0.0|.	B;B|.	0.10450|.	0.0;0.005|.	T|T	0.17745|0.17745	-1.0359|-1.0359	10|7	0.44086|0.21540	T|T	0.13|0.41	-4.1202|-4.1202	11.9551|11.9551	0.52976|0.52976	0.0:0.8249:0.1751:0.0|0.0:0.8249:0.1751:0.0	.|.	89;321|.	E9PFF9;Q8WVR3|.	.;CG043_HUMAN|.	R|T	52;321;89|226	ENSP00000396432:G52R;ENSP00000324741:G321R;ENSP00000406326:G89R|ENSP00000389672:R226T	ENSP00000324741:G321R|ENSP00000389672:R226T	G|R	-|-	1|2	0|0	C7orf43|C7orf43	99592436|99592436	0.980000|0.980000	0.34600|0.34600	0.997000|0.997000	0.53966|0.53966	0.893000|0.893000	0.52053|0.52053	3.716000|3.716000	0.54904|0.54904	1.243000|1.243000	0.43853|0.43853	0.462000|0.462000	0.41574|0.41574	GGG|AGG		0.602	C7orf43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337395.2	NM_018275		77	78	0	0	0	1	0	77	78					G	99754500	C	G	99754500	3	3	421	1	0	0	0	0	1	0	0	0	2393	681	24	5	805	5	C7orf43	7	99754500	Missense_Mutation	SNP	C	TCGA-VP-AA1N-01A-31D-A41K-08	23619773	99754500	59384163	10	20375											
ACHE	43	broad.mit.edu	37	chr7	100490251	100490251	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctcaggcgtgccgggtcctcGggatgcagccagtctgtgta	5	9	15	12	3	2	0	1	0	1	0	4	1	3	1	3	3	3	2	3	3	1	1	rs199872491		TCGA-VP-AA1N-01A-31D-A41K-08	TCGA-VP-AA1N-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdd3c350-9cd0-45f3-a822-6174c4edfba0	df551c39-d578-49ea-8e80-24c14dbb340d	g.chr7:100490251G>A	ENST00000412389.1	-	2	1412	c.1257C>T	c.(1255-1257)ccC>ccT	p.P419P	ACHE_ENST00000302913.4_Silent_p.P419P|ACHE_ENST00000419336.2_Intron|UFSP1_ENST00000388761.2_5'Flank|ACHE_ENST00000411582.1_Silent_p.P419P|ACHE_ENST00000428317.1_Silent_p.P419P|ACHE_ENST00000241069.5_Silent_p.P419P			P22303	ACES_HUMAN	acetylcholinesterase (Yt blood group)	419					acetylcholine catabolic process (GO:0006581)|acetylcholine catabolic process in synaptic cleft (GO:0001507)|amyloid precursor protein metabolic process (GO:0042982)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|choline metabolic process (GO:0019695)|DNA replication (GO:0006260)|glycerophospholipid biosynthetic process (GO:0046474)|muscle organ development (GO:0007517)|negative regulation of synaptic transmission, cholinergic (GO:0032223)|nervous system development (GO:0007399)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter receptor biosynthetic process (GO:0045212)|osteoblast development (GO:0002076)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|positive regulation of protein secretion (GO:0050714)|protein tetramerization (GO:0051262)|receptor internalization (GO:0031623)|regulation of axonogenesis (GO:0050770)|regulation of dendrite morphogenesis (GO:0048814)|regulation of receptor recycling (GO:0001919)|response to wounding (GO:0009611)|retina development in camera-type eye (GO:0060041)|small molecule metabolic process (GO:0044281)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic transmission, cholinergic (GO:0007271)	anchored component of membrane (GO:0031225)|axon (GO:0030424)|basal lamina (GO:0005605)|cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|synapse (GO:0045202)	acetylcholine binding (GO:0042166)|acetylcholinesterase activity (GO:0003990)|beta-amyloid binding (GO:0001540)|cholinesterase activity (GO:0004104)|collagen binding (GO:0005518)|hydrolase activity (GO:0016787)|laminin binding (GO:0043236)|protein homodimerization activity (GO:0042803)|serine hydrolase activity (GO:0017171)			large_intestine(3)|lung(7)|skin(3)|urinary_tract(3)	16	Lung NSC(181;0.041)|all_lung(186;0.0581)				Ambenonium(DB01122)|Choline(DB00122)|Decamethonium(DB01245)|Demecarium(DB00944)|Dipivefrin(DB00449)|Donepezil(DB00843)|Edrophonium(DB01010)|Ephedrine(DB01364)|Galantamine(DB00674)|Gallamine Triethiodide(DB00483)|Isoflurophate(DB00677)|Mefloquine(DB00358)|Minaprine(DB00805)|Neostigmine(DB01400)|Physostigmine(DB00981)|Pralidoxime(DB00733)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Tubocurarine(DB01199)	CCGGGTCCTCGGGATGCAGCC	0.701																																						ENST00000302913.4																			0				large_intestine(3)|lung(7)|skin(3)|urinary_tract(3)	16						c.(1255-1257)ccC>ccT		acetylcholinesterase	Ambenonium(DB01122)|Atropine(DB00572)|Choline(DB00122)|Decamethonium(DB01245)|Demecarium bromide(DB00944)|Donepezil(DB00843)|Edrophonium(DB01010)|Ephedrine(DB01364)|Galantamine(DB00674)|Gallamine Triethiodide(DB00483)|Isoflurophate(DB00677)|Neostigmine(DB01400)|Physostigmine(DB00981)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Tacrine(DB00382)|Tubocurarine(DB01199)						23	25	24					7																	100490251		2203	4299	6502	SO:0001819	synonymous_variant	43				acetylcholine catabolic process in synaptic cleft|amyloid precursor protein metabolic process|cell adhesion|cell proliferation|choline metabolic process|DNA replication|muscle organ development|neurotransmitter biosynthetic process|osteoblast development|positive regulation of protein secretion|regulation of axonogenesis|regulation of dendrite morphogenesis|response to wounding|synapse assembly	anchored to membrane|axon|basal lamina|cell junction|cell surface|dendrite|endoplasmic reticulum lumen|extracellular space|Golgi apparatus|neuromuscular junction|nucleus|perinuclear region of cytoplasm|postsynaptic membrane|presynaptic membrane|synaptic cleft	acetylcholine binding|acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|collagen binding|laminin-1 binding|protein homodimerization activity|serine hydrolase activity	g.chr7:100490251G>A		CCDS5709.1, CCDS5710.1, CCDS64736.1	7q22	2014-07-19	2014-01-02		ENSG00000087085	ENSG00000087085	3.1.1.7	"Blood group antigens"	108	protein-coding gene	gene with protein product	"Yt blood group"	100740	"acetylcholinesterase (YT blood group)", "acetylcholinesterase (Yt blood group)", "acetylcholinesterase"	YT		1380483	Standard	XM_005250357		Approved		uc003uxe.3	P22303	OTTHUMG00000157033	ENST00000412389.1:c.1257C>T	7.37:g.100490251G>A						ACHE_ENST00000428317.1_Silent_p.P419P|ACHE_ENST00000411582.1_Silent_p.P419P|ACHE_ENST00000412389.1_Silent_p.P419P|ACHE_ENST00000241069.5_Silent_p.P419P|ACHE_ENST00000419336.2_Intron	p.P419P	NM_015831.2	NP_056646.1	P22303	ACES_HUMAN			3	1395	-	Lung NSC(181;0.041)|all_lung(186;0.0581)		419					A4D2E2|B7ZKZ0|D6W5X7|Q16169|Q29S23|Q2M324|Q504V3|Q53F46|Q86TM9|Q86YX9|Q9BXP7	Silent	SNP	ENST00000412389.1	37	c.1257C>T	CCDS5709.1																																																																																				0.701	ACHE-013	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347201.1	NM_015831		13	25	0	0	0	1	0	13	25					A	100490251	G	A	100490251	2	1	421	1	0	0	0	0	0	0	0	1	141	1103	39	2		2	ACHE	7	100490251	Silent	SNP	G	TCGA-VP-AA1N-01A-31D-A41K-08	735751	100490251	58648412	11	20376											
MLL3	58508	broad.mit.edu	37	chr7	151846165	151846165	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacatccaaagtggagatgtTgttgctgtactgatgaaatg	12	12	11	6	0	0	3	0	2	0	1	1	4	1	3	1	1	2	4	1	1	3	3			TCGA-VP-AA1N-01A-31D-A41K-08	TCGA-VP-AA1N-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdd3c350-9cd0-45f3-a822-6174c4edfba0	df551c39-d578-49ea-8e80-24c14dbb340d	g.chr7:151846165T>G	ENST00000262189.6	-	52	13065	c.12847A>C	c.(12847-12849)Aac>Cac	p.N4283H	KMT2C_ENST00000355193.2_Missense_Mutation_p.N4340H	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	4283					histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										GTGGAGATGTTGTTGCTGTAC	0.498																																						ENST00000355193.2																			0											c.(13018-13020)Aac>Cac		lysine (K)-specific methyltransferase 2C							68	63	65					7																	151846165		2203	4300	6503	SO:0001583	missense	58508							g.chr7:151846165T>G	AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	13726	protein-coding gene	gene with protein product		606833	"myeloid/lymphoid or mixed-lineage leukemia 3"	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.12847A>C	7.37:g.151846165T>G	ENSP00000262189:p.Asn4283His					KMT2C_ENST00000262189.6_Missense_Mutation_p.N4283H	p.N4340H							53	13236	-								Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Missense_Mutation	SNP	ENST00000262189.6	37	c.13018A>C	CCDS5931.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	16.50|16.50	3.139369|3.139369	0.56936|0.56936	.|.	.|.	ENSG00000055609|ENSG00000055609	ENST00000262189;ENST00000355193;ENST00000424877|ENST00000360104	D;D;D|.	0.90444|.	-2.13;-2.07;-2.67|.	5.53|5.53	5.53|5.53	0.82687|0.82687	.|.	0.000000|.	0.48767|.	U|.	0.000178|.	T|T	0.75874|0.75874	0.3909|0.3909	M|M	0.77313|0.77313	2.365|2.365	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	0.999;1.0;1.0|.	D;D;D|.	0.91635|.	0.997;0.999;0.999|.	T|T	0.77094|0.77094	-0.2715|-0.2715	10|5	0.66056|.	D|.	0.02|.	.|.	15.6559|15.6559	0.77133|0.77133	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	4283;3401;4340|.	Q8NEZ4;Q8NEZ4-2;Q8NEZ4-3|.	MLL3_HUMAN;.;.|.	H|P	4283;4340;900|1843	ENSP00000262189:N4283H;ENSP00000347325:N4340H;ENSP00000410411:N900H|.	ENSP00000262189:N4283H|.	N|Q	-|-	1|2	0|0	MLL3|MLL3	151477098|151477098	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	7.698000|7.698000	0.84413|0.84413	2.097000|2.097000	0.63578|0.63578	0.533000|0.533000	0.62120|0.62120	AAC|CAA		0.498	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3			15	40	0	0	0	1	0	15	40					G	151846165	T	G	151846165	3	3	421	1	0	0	0	0	1	0	0	0	9622	1812	63	5	1920	5	MLL3	7	151846165	Missense_Mutation	SNP	T	TCGA-VP-AA1N-01A-31D-A41K-08	51355914	151846165	7292498	12	20377											
DLC1	10395	broad.mit.edu	37	chr8	13357328	13357328	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atggctgtcattttcgtccaCatcctttgaaagatgaccca	10	13	7	11	1	1	3	1	2	0	1	4	3	3	3	3	1	0	1	3	1	1	3			TCGA-VP-AA1N-01A-31D-A41K-08	TCGA-VP-AA1N-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdd3c350-9cd0-45f3-a822-6174c4edfba0	df551c39-d578-49ea-8e80-24c14dbb340d	g.chr8:13357328C>T	ENST00000276297.4	-	2	662	c.253G>A	c.(253-255)Gtg>Atg	p.V85M	DLC1_ENST00000511869.1_Missense_Mutation_p.V85M|DLC1_ENST00000316609.5_Missense_Mutation_p.V85M	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN	DLC1 Rho GTPase activating protein	85					actin cytoskeleton organization (GO:0030036)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|focal adhesion assembly (GO:0048041)|forebrain development (GO:0030900)|heart morphogenesis (GO:0003007)|hindbrain morphogenesis (GO:0021575)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of stress fiber assembly (GO:0051497)|neural tube closure (GO:0001843)|positive regulation of execution phase of apoptosis (GO:1900119)|positive regulation of protein dephosphorylation (GO:0035307)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	lipid binding (GO:0008289)|Rho GTPase activator activity (GO:0005100)|SH2 domain binding (GO:0042169)			NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						TTTTCGTCCACATCCTTTGAA	0.458																																						ENST00000276297.4																			0				NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						c.(253-255)Gtg>Atg		deleted in liver cancer 1							224	226	225					8																	13357328		2203	4300	6503	SO:0001583	missense	10395				actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding	g.chr8:13357328C>T	AF035119	CCDS5989.1, CCDS5990.1, CCDS5991.1, CCDS5991.2, CCDS55201.1	8p22	2014-06-20	2014-06-20		ENSG00000164741	ENSG00000164741		"Rho GTPase activating proteins", "StAR-related lipid transfer (START) domain containing"	2897	protein-coding gene	gene with protein product	"StAR-related lipid transfer (START) domain containing 12"	604258	"deleted in liver cancer 1"			9605766, 11214970	Standard	NM_182643		Approved	HP, ARHGAP7, STARD12, DLC-1, p122-RhoGAP	uc003wwm.2	Q96QB1	OTTHUMG00000090825	ENST00000276297.4:c.253G>A	8.37:g.13357328C>T	ENSP00000276297:p.Val85Met					DLC1_ENST00000316609.5_Missense_Mutation_p.V85M|DLC1_ENST00000511869.1_Missense_Mutation_p.V85M	p.V85M	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN			2	662	-			85					B4DR10|B8PTI0|E9PDZ8|E9PF76|E9PGY9|O14868|O43199|Q7Z5R8|Q86UC6|Q9C0E0|Q9H7A2	Missense_Mutation	SNP	ENST00000276297.4	37	c.253G>A	CCDS5989.1	.	.	.	.	.	.	.	.	.	.	C	4.451	0.083590	0.08533	.	.	ENSG00000164741	ENST00000276297;ENST00000316609;ENST00000511869	T;T;T	0.35605	1.3;1.3;1.3	5.37	2.57	0.30868	.	0.449783	0.16878	N	0.195815	T	0.27169	0.0666	L	0.43923	1.385	0.09310	N	1	B;B;B	0.29627	0.144;0.073;0.252	B;B;B	0.27608	0.081;0.048;0.049	T	0.22836	-1.0205	10	0.72032	D	0.01	.	5.8961	0.18939	0.1265:0.5951:0.0:0.2784	.	85;85;85	E9PF76;Q96QB1-3;Q96QB1	.;.;RHG07_HUMAN	M	85	ENSP00000276297:V85M;ENSP00000321034:V85M;ENSP00000425878:V85M	ENSP00000276297:V85M	V	-	1	0	DLC1	13401699	0.068000	0.21057	0.058000	0.19502	0.040000	0.13550	0.325000	0.19628	0.771000	0.33359	0.655000	0.94253	GTG		0.458	DLC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207632.2	NM_182643, NM_006094		6	251	0	0	0	1	0	6	251					T	13357328	C	T	13357328	3	4	421	1	0	0	0	0	1	0	0	0	4550	478	17	3	4486	3	DLC1	8	13357328	Missense_Mutation	SNP	C	TCGA-VP-AA1N-01A-31D-A41K-08		13357328	133006694	13	20378											
CSMD3	114788	broad.mit.edu	37	chr8	113697664	113697664	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgatgttaaagccacgtcctGacattgagtggtcagcctga	10	11	11	9	1	1	4	1	4	0	0	2	4	2	4	3	1	2	1	3	1	2	2			TCGA-VP-AA1N-01A-31D-A41K-08	TCGA-VP-AA1N-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdd3c350-9cd0-45f3-a822-6174c4edfba0	df551c39-d578-49ea-8e80-24c14dbb340d	g.chr8:113697664G>T	ENST00000297405.5	-	15	2697	c.2453C>A	c.(2452-2454)tCa>tAa	p.S818*	CSMD3_ENST00000343508.3_Nonsense_Mutation_p.S778*|CSMD3_ENST00000352409.3_Nonsense_Mutation_p.S818*|CSMD3_ENST00000455883.2_Nonsense_Mutation_p.S714*	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	818	CUB 4. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						GCCACGTCCTGACATTGAGTG	0.378										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												ENST00000297405.5																			0				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						c.(2452-2454)tCa>tAa		CUB and Sushi multiple domains 3							76	73	74					8																	113697664		2203	4300	6503	SO:0001587	stop_gained	114788					integral to membrane|plasma membrane		g.chr8:113697664G>T	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.2453C>A	8.37:g.113697664G>T	ENSP00000297405:p.Ser818*	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_ENST00000352409.3_Nonsense_Mutation_p.S818*|CSMD3_ENST00000343508.3_Nonsense_Mutation_p.S778*|CSMD3_ENST00000455883.2_Nonsense_Mutation_p.S714*	p.S818*	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN			15	2697	-			818			CUB 4.		Q96PZ3	Nonsense_Mutation	SNP	ENST00000297405.5	37	c.2453C>A	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	G	44	10.927700	0.99489	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	.	.	.	5.96	5.96	0.96718	.	0.000000	0.64402	D	0.000010	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	20.4008	0.98991	0.0:0.0:1.0:0.0	.	.	.	.	X	778;818;158;714;818	.	ENSP00000297405:S818X	S	-	2	0	CSMD3	113766840	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.869000	0.99810	2.826000	0.97356	0.655000	0.94253	TCA		0.378	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		21	54	1	0	4.35082e-09	1	4.79478e-09	21	54					T	113697664	G	T	113697664	4	4	421	1	0	0	0	0	0	1	0	0	3946	1294	45	5	8898	5	CSMD3	8	113697664	Nonsense_Mutation	SNP	G	TCGA-VP-AA1N-01A-31D-A41K-08	100340336	113697664	32666358	14	20379											
OMD	4958	broad.mit.edu	37	chr9	95178945	95178945	+	Frame_Shift_Del	DEL	G	G	-																															ataggtgttccaaatttcttGgaatatagaatgcttgcttc																										TCGA-VP-AA1N-01A-31D-A41K-08	TCGA-VP-AA1N-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdd3c350-9cd0-45f3-a822-6174c4edfba0	df551c39-d578-49ea-8e80-24c14dbb340d	g.chr9:95178945delG	ENST00000375550.4	-	2	1171	c.896delC	c.(895-897)ccafs	p.P299fs	CENPP_ENST00000375587.3_Intron	NM_005014.2	NP_005005.1	Q99983	OMD_HUMAN	osteomodulin	299					carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)				breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(3)|skin(2)	16						CAAATTTCTTGGAATATAGAA	0.308			T	USP6	aneurysmal bone cysts																																	ENST00000375550.4				Dom	yes		9	9q22.31	4958	T	osteomodulin			M	USP6		aneurysmal bone cysts		0				breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(3)|skin(2)	16						c.(895-897)cafs		osteomodulin							60	61	61					9																	95178945		2200	4292	6492	SO:0001589	frameshift_variant	4958				cell adhesion	proteinaceous extracellular matrix		g.chr9:95178945delG	AB000114	CCDS6696.1	9q22.31	2008-02-05			ENSG00000127083	ENSG00000127083		"Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"	8134	protein-coding gene	gene with protein product	"osteoadherin proteoglycan"						Standard	NM_005014		Approved	osteoadherin, SLRR2C	uc004asd.4	Q99983	OTTHUMG00000020225	ENST00000375550.4:c.896delC	9.37:g.95178945delG	ENSP00000364700:p.Pro299fs					CENPP_ENST00000375587.3_Intron	p.P299fs	NM_005014.2	NP_005005.1	Q99983	OMD_HUMAN			2	1171	-			299					Q5TBF4	Frame_Shift_Del	DEL	ENST00000375550.4	37	c.896delC	CCDS6696.1																																																																																				0.308	OMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053090.1	NM_005014		11	30						11	30	---	---	---	---	-	95178945	G	-	95178945	7	5	421	1	0	1	0	1	0	0	0	0	10865	1348	47	0	377	0	OMD	9	95178945	Frame_Shift_Del	DEL	G	TCGA-VP-AA1N-01A-31D-A41K-08		95178945	46034486	15	20380											
TTF1	7270	broad.mit.edu	37	chr9	135277515	135277515	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttcaggcatggccagtgtctCatattcccggttactggact	7	13	10	11	1	2	0	2	0	1	0	4	1	3	1	2	4	1	2	2	4	2	4			TCGA-VP-AA1N-01A-31D-A41K-08	TCGA-VP-AA1N-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdd3c350-9cd0-45f3-a822-6174c4edfba0	df551c39-d578-49ea-8e80-24c14dbb340d	g.chr9:135277515C>T	ENST00000334270.2	-	2	733	c.694G>A	c.(694-696)Gag>Aag	p.E232K		NM_001205296.1|NM_007344.3	NP_001192225.1|NP_031370.2	Q15361	TTF1_HUMAN	transcription termination factor, RNA polymerase I	232					chromatin remodeling (GO:0006338)|DNA-templated transcription, termination (GO:0006353)|gene expression (GO:0010467)|negative regulation of DNA replication (GO:0008156)|regulation of transcription, DNA-templated (GO:0006355)|termination of RNA polymerase I transcription (GO:0006363)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;4.25e-06)|Epithelial(140;9.09e-05)		GCCAGTGTCTCATATTCCCGG	0.483																																						ENST00000334270.2																			0				endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						c.(694-696)Gag>Aag		transcription termination factor, RNA polymerase I							41	42	42					9																	135277515		2203	4300	6503	SO:0001583	missense	7270				negative regulation of DNA replication|regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription	nucleolus|nucleoplasm	DNA binding	g.chr9:135277515C>T	BC050734	CCDS6948.1, CCDS75925.1	9q34.3	2008-02-05			ENSG00000125482	ENSG00000125482			12397	protein-coding gene	gene with protein product		600777				7597036	Standard	NM_007344		Approved		uc004cbl.3	Q15361	OTTHUMG00000020836	ENST00000334270.2:c.694G>A	9.37:g.135277515C>T	ENSP00000333920:p.Glu232Lys						p.E232K	NM_001205296.1|NM_007344.3	NP_001192225.1|NP_031370.2	Q15361	TTF1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;4.25e-06)|Epithelial(140;9.09e-05)	2	733	-		Myeloproliferative disorder(178;0.204)	232					A1L160|Q4VXF3|Q58EY2|Q6P5T5	Missense_Mutation	SNP	ENST00000334270.2	37	c.694G>A	CCDS6948.1	.	.	.	.	.	.	.	.	.	.	C	9.494	1.101360	0.20632	.	.	ENSG00000125482	ENST00000334270;ENST00000245588	T	0.13089	2.62	2.03	2.03	0.26663	.	.	.	.	.	T	0.06690	0.0171	N	0.22421	0.69	0.09310	N	1	P	0.41524	0.753	B	0.26864	0.074	T	0.27468	-1.0073	9	0.45353	T	0.12	.	7.4289	0.27115	0.0:1.0:0.0:0.0	.	232	Q15361	TTF1_HUMAN	K	232	ENSP00000333920:E232K	ENSP00000245588:E232K	E	-	1	0	TTF1	134267336	0.030000	0.19436	0.001000	0.08648	0.001000	0.01503	0.962000	0.29280	1.090000	0.41315	0.467000	0.42956	GAG		0.483	TTF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054784.2	NM_007344		21	37	0	0	0	1	0	21	37					T	135277515	C	T	135277515	3	4	421	1	0	0	0	0	1	0	0	0	16715	835	29	3	2063	3	TTF1	9	135277515	Missense_Mutation	SNP	C	TCGA-VP-AA1N-01A-31D-A41K-08	40098570	135277515	5935916	16	20381											
C10orf18	54906	broad.mit.edu	37	chr10	5765643	5765643	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gttgtgttgtttttcagaccGcaggaactagattttaaata	11	16	9	5	1	1	2	1	0	0	2	1	3	1	3	1	1	1	4	1	1	5	8	rs375654540		TCGA-VP-AA1N-01A-31D-A41K-08	TCGA-VP-AA1N-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdd3c350-9cd0-45f3-a822-6174c4edfba0	df551c39-d578-49ea-8e80-24c14dbb340d	g.chr10:5765643G>T	ENST00000328090.5	+	7	775	c.150G>T	c.(148-150)ccG>ccT	p.P50P	RP11-336A10.2_ENST00000411512.2_RNA	NM_017782.4	NP_060252	Q5VWN6	F208B_HUMAN	family with sequence similarity 208, member B	50																	TTTTCAGACCGCAGGAACTAG	0.313																																						ENST00000328090.5																			0											c.(148-150)ccG>ccT		family with sequence similarity 208, member B							102	98	99					10																	5765643		1805	4075	5880	SO:0001819	synonymous_variant	54906							g.chr10:5765643G>T	BX649177	CCDS41485.1	10p15.1	2011-09-14	2011-09-14	2011-09-14	ENSG00000108021	ENSG00000108021			23484	protein-coding gene	gene with protein product			"chromosome 10 open reading frame 18"	C10orf18		12477932	Standard	NM_017782		Approved	FLJ20360, bA318E3.2, KIAA2006	uc001iij.3	Q5VWN6	OTTHUMG00000017605	ENST00000328090.5:c.150G>T	10.37:g.5765643G>T						RP11-336A10.2_ENST00000411512.2_RNA	p.P50P	NM_017782.4	NP_060252.4	Q5VWN6	CJ018_HUMAN			7	775	+			50					Q2YD91|Q5VWN5|Q6ZRQ8|Q8IVG4|Q9BUZ7|Q9H5J9|Q9H7A4|Q9H996|Q9NXA1	Silent	SNP	ENST00000328090.5	37	c.150G>T	CCDS41485.1																																																																																				0.313	FAM208B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046571.2	NM_017782		14	49	1	0	3.45872e-05	1	3.73541e-05	14	49					T	5765643	G	T	5765643	2	4	421	1	0	0	0	0	0	0	0	1	1596	1074	38	5		5	C10orf18	10	5765643	Silent	SNP	G	TCGA-VP-AA1N-01A-31D-A41K-08		5765643	129769104	17	20382											
ANKRD30A	91074	broad.mit.edu	37	chr10	37451578	37451578	+	Splice_Site	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatctcttttgctttttagaGcctccggggaagccatctgc	7	14	9	11	1	2	1	0	0	2	1	4	2	3	2	3	2	4	1	3	2	3	5			TCGA-VP-AA1N-01A-31D-A41K-08	TCGA-VP-AA1N-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdd3c350-9cd0-45f3-a822-6174c4edfba0	df551c39-d578-49ea-8e80-24c14dbb340d	g.chr10:37451578G>C	ENST00000602533.1	+	16	1833	c.1734G>C	c.(1732-1734)gaG>gaC	p.E578D	ANKRD30A_ENST00000374660.1_Splice_Site_p.E578D|ANKRD30A_ENST00000361713.1_Splice_Site_p.E578D			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	634					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						GCTTTTTAGAGCCTCCGGGGA	0.333																																						ENST00000374660.1																			0				NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						c.e16-1		ankyrin repeat domain 30A							190	157	167					10																	37451578		1828	4079	5907	SO:0001630	splice_region_variant	91074					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr10:37451578G>C	AF269087	CCDS7193.1	10p11.21	2013-01-10			ENSG00000148513	ENSG00000148513		"Ankyrin repeat domain containing"	17234	protein-coding gene	gene with protein product	"breast cancer antigen NY-BR-1"	610856				11280766	Standard	NM_052997		Approved	NY-BR-1	uc001iza.1	Q9BXX3	OTTHUMG00000017968	ENST00000602533.1:c.1733-1G>C	10.37:g.37451578G>C						ANKRD30A_ENST00000602533.1_Splice_Site_p.E578_splice|ANKRD30A_ENST00000361713.1_Splice_Site_p.E578_splice	p.E578_splice			Q9BXX3	AN30A_HUMAN			16	1833	+			634					Q5W025	Splice_Site	SNP	ENST00000602533.1	37	c.1732_splice		.	.	.	.	.	.	.	.	.	.	.	2.823	-0.244338	0.05906	.	.	ENSG00000148513	ENST00000361713;ENST00000374660	T;T	0.06608	3.28;3.28	0.731	-1.46	0.08800	.	.	.	.	.	T	0.02929	0.0087	N	0.22421	0.69	0.09310	N	0.999993	B	0.33904	0.431	B	0.24155	0.051	T	0.45934	-0.9227	9	0.16420	T	0.52	.	3.9895	0.09530	0.0:0.0:0.5314:0.4686	.	634	Q9BXX3	AN30A_HUMAN	D	578	ENSP00000354432:E578D;ENSP00000363792:E578D	ENSP00000354432:E578D	E	+	3	2	ANKRD30A	37491584	0.762000	0.28451	0.577000	0.28562	0.146000	0.21551	-0.166000	0.09954	-0.645000	0.05458	0.089000	0.15464	GAG		0.333	ANKRD30A-001	KNOWN	NMD_exception|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000047588.2	NM_052997	Missense_Mutation	6	97	0	0	0	1	0	6	97					C	37451578	G	C	37451578	5	2	421	1	0	0	0	0	0	0	1	0	658	985	34	5	1796	5	ANKRD30A	10	37451578	Splice_Site	SNP	G	TCGA-VP-AA1N-01A-31D-A41K-08	31685935	37451578	98083169	18	20383											
PRF1	5551	broad.mit.edu	37	chr10	72358340	72358340	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tgccgccctggtgggcacggCcggctgcagtccctccagcg	3	6	15	17	4	0	0	0	0	0	0	2	0	2	0	5	4	3	3	5	4	0	0			TCGA-VP-AA1N-01A-31D-A41K-08	TCGA-VP-AA1N-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdd3c350-9cd0-45f3-a822-6174c4edfba0	df551c39-d578-49ea-8e80-24c14dbb340d	g.chr10:72358340C>T	ENST00000441259.1	-	3	1297	c.1137G>A	c.(1135-1137)cgG>cgA	p.R379R	PRF1_ENST00000373209.2_Silent_p.R379R	NM_001083116.1|NM_005041.4	NP_001076585.1|NP_005032.2	P14222	PERF_HUMAN	perforin 1 (pore forming protein)	379	EGF-like.				apoptotic process (GO:0006915)|cellular defense response (GO:0006968)|cytolysis (GO:0019835)|defense response to tumor cell (GO:0002357)|defense response to virus (GO:0051607)|immune response to tumor cell (GO:0002418)|protein homooligomerization (GO:0051260)|transmembrane transport (GO:0055085)	cytolytic granule (GO:0044194)|cytoplasmic membrane-bounded vesicle (GO:0016023)|endosome (GO:0005768)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|wide pore channel activity (GO:0022829)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(3)|urinary_tract(3)	23						GTGGGCACGGCCGGCTGCAGT	0.701			M			"various leukaemia, lymphoma"	Type 2 familial hemophagocytic lymphohistiocytosis		Familial Hemophagocytic Lymphohistiocytosis																													ENST00000441259.1			yes	Rec			10	10q22	5551	M	perforin 1 (pore forming protein)		Type 2 familial hemophagocytic lymphohistiocytosis	L		"various leukaemia, lymphoma"			0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(3)|urinary_tract(3)	23						c.(1135-1137)cgG>cgA		perforin 1 (pore forming protein)							15	18	17					10																	72358340		2197	4293	6490	SO:0001819	synonymous_variant	5551	Familial Hemophagocytic Lymphohistiocytosis	Familial Cancer Database	FHLH, FHL, Familial Hemophagocytic Reticulosis, FHR	apoptosis|cellular defense response|cytolysis|defense response to tumor cell|defense response to virus|immune response to tumor cell|protein homooligomerization	cytolytic granule|endosome lumen|extracellular region|integral to membrane|plasma membrane	calcium ion binding|protein binding|wide pore channel activity	g.chr10:72358340C>T	BC047695	CCDS7305.1	10q22	2014-09-17			ENSG00000180644	ENSG00000180644			9360	protein-coding gene	gene with protein product	"Perforin", "perforin 1 (preforming protein)"	170280				1505959, 2592021	Standard	NM_005041		Approved	PFP, P1, HPLH2	uc001jrf.4	P14222	OTTHUMG00000018412	ENST00000441259.1:c.1137G>A	10.37:g.72358340C>T						PRF1_ENST00000373209.2_Silent_p.R379R	p.R379R	NM_001083116.1|NM_005041.4	NP_001076585.1|NP_005032.2	P14222	PERF_HUMAN			3	1297	-			379			EGF-like.		B2R6X4|Q59F57|Q86WX7	Silent	SNP	ENST00000441259.1	37	c.1137G>A	CCDS7305.1																																																																																				0.701	PRF1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048517.2	NM_005041		3	10	0	0	0	1	0	3	10					T	72358340	C	T	72358340	2	4	421	1	0	0	0	0	0	0	0	1	12478	726	26	3		3	PRF1	10	72358340	Silent	SNP	C	TCGA-VP-AA1N-01A-31D-A41K-08	34906762	72358340	63176407	19	20384											
MUC2	4583	broad.mit.edu	37	chr11	1078359	1078359	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccgaggaggaggtggcccccGcatcctgctccgagcacgtg	6	5	15	15	4	0	0	0	0	0	0	2	4	2	2	5	4	2	3	5	4	0	0	rs534651955	byFrequency	TCGA-VP-AA1N-01A-31D-A41K-08	TCGA-VP-AA1N-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdd3c350-9cd0-45f3-a822-6174c4edfba0	df551c39-d578-49ea-8e80-24c14dbb340d	g.chr11:1078359G>A	ENST00000441003.2	+	5	673	c.646G>A	c.(646-648)Gca>Aca	p.A216T	MUC2_ENST00000359061.5_Missense_Mutation_p.A216T	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	216	VWFD 1. {ECO:0000255|PROSITE- ProRule:PRU00580}.				cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi lumen (GO:0005796)|inner mucus layer (GO:0070702)|outer mucus layer (GO:0070703)				NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	GGTGGCCCCCGCATCCTGCTC	0.647													G|||	2	0.000399361	0.0015	0	5008	,	,		15104	0		0	False		,,,				2504	0					ENST00000441003.2																			0				NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102						c.(646-648)Gca>Aca		mucin 2, oligomeric mucus/gel-forming	Pranlukast(DB01411)						64	77	73					11																	1078359		2070	4179	6249	SO:0001583	missense	4583					inner mucus layer|outer mucus layer	protein binding	g.chr11:1078359G>A	L21998		11p15.5	2011-01-28	2006-03-14		ENSG00000198788	ENSG00000198788		"Mucins"	7512	protein-coding gene	gene with protein product		158370	"mucin 2, intestinal/tracheal"			15081123	Standard	NM_002457		Approved		uc001lsx.1	Q02817	OTTHUMG00000156800	ENST00000441003.2:c.646G>A	11.37:g.1078359G>A	ENSP00000415183:p.Ala216Thr					MUC2_ENST00000359061.5_Missense_Mutation_p.A216T	p.A216T	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	5	673	+		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)	216			VWFD 1.		Q14878	Missense_Mutation	SNP	ENST00000441003.2	37	c.646G>A		.	.	.	.	.	.	.	.	.	.	G	8.412	0.844288	0.16963	.	.	ENSG00000198788	ENST00000441003;ENST00000359061	T;T	0.13538	2.64;2.58	4.08	-0.0641	0.13774	.	2.616420	0.01835	N	0.034921	T	0.04998	0.0134	N	0.01576	-0.805	0.09310	N	1	B	0.26876	0.162	B	0.24848	0.056	T	0.29912	-0.9996	10	0.14252	T	0.57	.	5.8219	0.18532	0.3598:0.1791:0.4611:0.0	.	216	E7EUV1	.	T	216	ENSP00000415183:A216T;ENSP00000351956:A216T	ENSP00000351956:A216T	A	+	1	0	MUC2	1068359	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	-1.251000	0.02882	0.213000	0.20722	-0.258000	0.10820	GCA		0.647	MUC2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000345894.2	NM_002457		3	30	0	0	0	1	0	3	30					A	1078359	G	A	1078359	3	1	421	1	0	0	0	0	1	0	0	0	9975	1087	38	1	664	1	MUC2	11	1078359	Missense_Mutation	SNP	G	TCGA-VP-AA1N-01A-31D-A41K-08		1078359	133928157	20	20385											
LUZP2	338645	broad.mit.edu	37	chr11	25004673	25004673	+	Splice_Site	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatgcctctttttttgtaggAgtcacagatgaaagcaatga	13	13	9	6	0	2	3	1	2	1	1	2	4	2	4	1	1	2	2	1	1	4	4			TCGA-VP-AA1N-01A-31D-A41K-08	TCGA-VP-AA1N-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdd3c350-9cd0-45f3-a822-6174c4edfba0	df551c39-d578-49ea-8e80-24c14dbb340d	g.chr11:25004673A>T	ENST00000336930.6	+	9	665	c.599A>T	c.(598-600)gAg>gTg	p.E200V	LUZP2_ENST00000533227.1_Splice_Site_p.E114V			Q86TE4	LUZP2_HUMAN	leucine zipper protein 2	200						extracellular region (GO:0005576)				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(11)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	32						TTTTTGTAGGAGTCACAGATG	0.403																																						ENST00000533227.1																			0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(11)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	32						c.e9-1		leucine zipper protein 2							166	145	153					11																	25004673		2203	4300	6503	SO:0001630	splice_region_variant	338645					extracellular region		g.chr11:25004673A>T	AL832641	CCDS31446.1, CCDS58128.1	11p14.3	2005-09-18			ENSG00000187398	ENSG00000187398			23206	protein-coding gene	gene with protein product		608178				12856284	Standard	NM_001009909		Approved		uc001mqs.3	Q86TE4	OTTHUMG00000166109	ENST00000336930.6:c.598-1A>T	11.37:g.25004673A>T						LUZP2_ENST00000336930.6_Splice_Site_p.E200_splice	p.E114_splice	NM_001009909.3|NM_001252008.1	NP_001009909.2|NP_001238937.1	Q86TE4	LUZP2_HUMAN			9	628	+			200					A2RUB8|E9PN53|Q6UXE7|Q6ZS65	Splice_Site	SNP	ENST00000336930.6	37	c.339_splice	CCDS31446.1	.	.	.	.	.	.	.	.	.	.	A	15.09	2.730884	0.48939	.	.	ENSG00000187398	ENST00000336930;ENST00000529015;ENST00000533227	T;T;T	0.25414	1.8;1.8;1.8	5.53	4.4	0.53042	.	0.123889	0.51477	D	0.000087	T	0.26521	0.0648	L	0.32530	0.975	0.39577	D	0.969379	P;P	0.47302	0.893;0.825	P;P	0.47981	0.563;0.463	T	0.05257	-1.0896	10	0.87932	D	0	-8.2474	11.305	0.49329	0.8473:0.1527:0.0:0.0	.	114;200	E9PN53;Q86TE4	.;LUZP2_HUMAN	V	200;158;114	ENSP00000336817:E200V;ENSP00000437032:E158V;ENSP00000432952:E114V	ENSP00000336817:E200V	E	+	2	0	LUZP2	24961249	1.000000	0.71417	0.997000	0.53966	0.949000	0.60115	5.356000	0.66052	1.029000	0.39812	0.528000	0.53228	GAG		0.403	LUZP2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387861.1	NM_001009909	Missense_Mutation	40	85	0	0	0	1	0	40	85					T	25004673	A	T	25004673	5	4	421	1	0	0	0	0	0	0	1	0	9087	318	11	5	633	5	LUZP2	11	25004673	Splice_Site	SNP	A	TCGA-VP-AA1N-01A-31D-A41K-08	23926314	25004673	110001843	21	20386											
TMEM179B	374395	broad.mit.edu	37	chr11	62557409	62557411	+	In_Frame_Del	DEL	GTC	GTC	-																															gtgtggtcttggtgctccagGtcgtgcagtggaagtctgaa																								rs149169067		TCGA-VP-AA1N-01A-31D-A41K-08	TCGA-VP-AA1N-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdd3c350-9cd0-45f3-a822-6174c4edfba0	df551c39-d578-49ea-8e80-24c14dbb340d	g.chr11:62557409_62557411delGTC	ENST00000333449.4	+	5	555_557	c.550_552delGTC	c.(550-552)gtcdel	p.V185del	TMEM223_ENST00000525631.1_Intron|NXF1_ENST00000533048.1_5'Flank|TMEM179B_ENST00000533861.1_3'UTR|TMEM223_ENST00000527073.1_Intron	NM_199337.2	NP_955369.1	Q7Z7N9	T179B_HUMAN	transmembrane protein 179B	185						integral component of membrane (GO:0016021)				kidney(1)|large_intestine(1)|liver(1)|lung(1)	4						GGTGCTCCAGGTCGTGCAGTGGA	0.562																																						ENST00000333449.4																			0				kidney(1)|large_intestine(1)|liver(1)|lung(1)	4						c.(550-552)del		transmembrane protein 179B																																				SO:0001651	inframe_deletion	374395					integral to membrane		g.chr11:62557409_62557411delGTC	BC051355	CCDS8036.1	11q12.3	2007-11-26			ENSG00000185475	ENSG00000185475			33744	protein-coding gene	gene with protein product							Standard	NM_199337		Approved		uc001nvd.4	Q7Z7N9	OTTHUMG00000167611	ENST00000333449.4:c.550_552delGTC	11.37:g.62557409_62557411delGTC	ENSP00000333697:p.Val185del					TMEM223_ENST00000527073.1_Intron|TMEM223_ENST00000525631.1_Intron|TMEM179B_ENST00000533861.1_3'UTR	p.V185del	NM_199337.2	NP_955369.1	Q7Z7N9	T179B_HUMAN			5	555_557	+			185						In_Frame_Del	DEL	ENST00000333449.4	37	c.550_552delGTC	CCDS8036.1																																																																																				0.562	TMEM179B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395362.2	NM_199337		66	122						66	122	---	---	---	---	-	62557411	GTC	-	62557409	7	5	421	1	0	1	0	1	0	0	0	0	16094	1261	44	0	568	0	TMEM179B	11	62557409	In_Frame_Del	DEL	GTC	TCGA-VP-AA1N-01A-31D-A41K-08	37552736	62557409	72449107	22	20387											
TECTA	7007	broad.mit.edu	37	chr11	121031011	121031011	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aggctgcagaacaaagtgtgCggtctctgtggcaacttcaa	11	9	12	9	1	2	1	1	0	1	1	3	1	2	1	0	3	4	3	0	3	4	1			TCGA-VP-AA1N-01A-31D-A41K-08	TCGA-VP-AA1N-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdd3c350-9cd0-45f3-a822-6174c4edfba0	df551c39-d578-49ea-8e80-24c14dbb340d	g.chr11:121031011C>T	ENST00000392793.1	+	15	5128	c.4857C>T	c.(4855-4857)tgC>tgT	p.C1619C	TECTA_ENST00000264037.2_Silent_p.C1619C			O75443	TECTA_HUMAN	tectorin alpha	1619	VWFD 4. {ECO:0000255|PROSITE- ProRule:PRU00580}.		C -> S (in DFNA12; dbSNP:rs28939691). {ECO:0000269|PubMed:10196713}.		cell-matrix adhesion (GO:0007160)|sensory perception of sound (GO:0007605)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		ACAAAGTGTGCGGTCTCTGTG	0.507																																						ENST00000392793.1																		TECTA/TBCEL(2)	0				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135						c.(4855-4857)tgC>tgT		tectorin alpha							135	129	131					11																	121031011		2203	4299	6502	SO:0001819	synonymous_variant	7007				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix		g.chr11:121031011C>T	AF055136	CCDS8434.1	11q22-q24	2008-02-05			ENSG00000109927	ENSG00000109927			11720	protein-coding gene	gene with protein product		602574		DFNA12, DFNA8, DFNB21		9503015, 9590290	Standard	NM_005422		Approved		uc010rzo.2	O75443	OTTHUMG00000149908	ENST00000392793.1:c.4857C>T	11.37:g.121031011C>T						TECTA_ENST00000264037.2_Silent_p.C1619C	p.C1619C			O75443	TECTA_HUMAN		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)	15	5128	+	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)	1619		C -> S (in DFNA12; dbSNP:rs28939691).	VWFD 4.			Silent	SNP	ENST00000392793.1	37	c.4857C>T	CCDS8434.1																																																																																				0.507	TECTA-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313850.1	NM_005422		32	28	0	0	0	1	0	32	28					T	121031011	C	T	121031011	2	4	421	1	0	0	0	0	0	0	0	1	15744	776	27	1		1	TECTA	11	121031011	Silent	SNP	C	TCGA-VP-AA1N-01A-31D-A41K-08	58473602	121031011	13975505	23	20388											
C1S	716	broad.mit.edu	37	chr12	7177521	7177521	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagtgaaaatgggacccaccGtctctcccatctgcctacca	10	8	7	16	1	2	1	0	1	2	0	4	2	3	2	5	1	2	0	5	1	3	1			TCGA-VP-AA1N-01A-31D-A41K-08	TCGA-VP-AA1N-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdd3c350-9cd0-45f3-a822-6174c4edfba0	df551c39-d578-49ea-8e80-24c14dbb340d	g.chr12:7177521G>A	ENST00000406697.1	+	15	2261	c.1633G>A	c.(1633-1635)Gtc>Atc	p.V545I	C1S_ENST00000360817.5_Missense_Mutation_p.V545I|C1S_ENST00000328916.3_Missense_Mutation_p.V545I|C1S_ENST00000495061.1_3'UTR|C1S_ENST00000402681.3_Missense_Mutation_p.V378I			P09871	C1S_HUMAN	complement component 1, s subcomponent	545	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|serine-type endopeptidase activity (GO:0004252)			breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(4)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33					Abciximab(DB00054)|Adalimumab(DB00051)|Basiliximab(DB00074)|Cetuximab(DB00002)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Muromonab(DB00075)|Rituximab(DB00073)|Trastuzumab(DB00072)	GGGACCCACCGTCTCTCCCAT	0.552																																					GBM(156;750 1943 12971 24779 31015)	ENST00000406697.1																			0				breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(4)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33						c.(1633-1635)Gtc>Atc		complement component 1, s subcomponent	Abciximab(DB00054)|Adalimumab(DB00051)|Basiliximab(DB00074)|Cetuximab(DB00002)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Rituximab(DB00073)|Trastuzumab(DB00072)						60	58	59					12																	7177521		2203	4300	6503	SO:0001583	missense	716				complement activation, classical pathway|innate immune response|proteolysis	extracellular region	calcium ion binding|serine-type endopeptidase activity	g.chr12:7177521G>A		CCDS31735.1	12p13	2014-09-17			ENSG00000182326	ENSG00000182326	3.4.21.42	"Complement system"	1247	protein-coding gene	gene with protein product		120580					Standard	NM_201442		Approved		uc001qsl.3	P09871	OTTHUMG00000150305	ENST00000406697.1:c.1633G>A	12.37:g.7177521G>A	ENSP00000385035:p.Val545Ile					C1S_ENST00000495061.1_3'UTR|C1S_ENST00000328916.3_Missense_Mutation_p.V545I|C1S_ENST00000402681.3_Missense_Mutation_p.V378I|C1S_ENST00000360817.5_Missense_Mutation_p.V545I	p.V545I			P09871	C1S_HUMAN			15	2261	+			545			Peptidase S1.		D3DUT4|Q9UCU7|Q9UCU8|Q9UCU9|Q9UCV0|Q9UCV1|Q9UCV2|Q9UCV3|Q9UCV4|Q9UCV5|Q9UM14	Missense_Mutation	SNP	ENST00000406697.1	37	c.1633G>A	CCDS31735.1	.	.	.	.	.	.	.	.	.	.	G	2.256	-0.370383	0.05069	.	.	ENSG00000182326	ENST00000406697;ENST00000328916;ENST00000360817;ENST00000382222;ENST00000402681	D;D;D;D	0.90844	-2.74;-2.74;-2.74;-2.74	5.16	1.32	0.21799	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.411760	0.17807	N	0.161324	T	0.79879	0.4522	L	0.28776	0.89	0.09310	N	1	B	0.18968	0.032	B	0.16289	0.015	T	0.60875	-0.7176	10	0.11794	T	0.64	.	4.8397	0.13483	0.3943:0.1468:0.4589:0.0	.	545	P09871	C1S_HUMAN	I	545;545;545;539;378	ENSP00000385035:V545I;ENSP00000328173:V545I;ENSP00000354057:V545I;ENSP00000384171:V378I	ENSP00000328173:V545I	V	+	1	0	C1S	7047782	0.885000	0.30320	0.001000	0.08648	0.065000	0.16274	1.537000	0.36083	0.070000	0.16634	-1.615000	0.00797	GTC		0.552	C1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317481.1	NM_001734		8	16	0	0	0	1	0	8	16					A	7177521	G	A	7177521	3	1	421	1	0	0	0	0	1	0	0	0	1974	1145	40	1	1675	1	C1S	12	7177521	Missense_Mutation	SNP	G	TCGA-VP-AA1N-01A-31D-A41K-08		7177521	126674374	24	20389											
ZNF641	121274	broad.mit.edu	37	chr12	48741884	48741884	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctgaaagcatttctgctgcaGacccaaattgtgacctggaa	12	10	9	10	0	1	3	0	2	1	1	1	4	1	4	2	1	3	3	2	1	3	2			TCGA-VP-AA1N-01A-31D-A41K-08	TCGA-VP-AA1N-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdd3c350-9cd0-45f3-a822-6174c4edfba0	df551c39-d578-49ea-8e80-24c14dbb340d	g.chr12:48741884G>C	ENST00000544117.2	-	2	740	c.32C>G	c.(31-33)tCt>tGt	p.S11C	ZNF641_ENST00000301042.3_Missense_Mutation_p.S11C|ZNF641_ENST00000448928.3_5'UTR|RP11-370I10.6_ENST00000548257.1_RNA|ZNF641_ENST00000547026.1_5'UTR			Q96N77	ZN641_HUMAN	zinc finger protein 641	11					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(1)|endometrium(2)|kidney(3)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	12						TTCTGCTGCAGACCCAAATTG	0.483																																						ENST00000544117.2																			0				breast(1)|endometrium(2)|kidney(3)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	12						c.(31-33)tCt>tGt		zinc finger protein 641							89	77	81					12																	48741884		2203	4300	6503	SO:0001583	missense	121274				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding	g.chr12:48741884G>C	BC018090	CCDS8763.1, CCDS53787.1, CCDS53788.1	12q13.11	2013-01-08				ENSG00000167528		"Zinc fingers, C2H2-type", "-"	31834	protein-coding gene	gene with protein product		613906					Standard	NM_152320		Approved	FLJ31295	uc001rro.2	Q96N77		ENST00000544117.2:c.32C>G	12.37:g.48741884G>C	ENSP00000437832:p.Ser11Cys					ZNF641_ENST00000448928.3_5'UTR|ZNF641_ENST00000547026.1_5'UTR|ZNF641_ENST00000301042.3_Missense_Mutation_p.S11C	p.S11C			Q96N77	ZN641_HUMAN			2	740	-			11					B3KS43|B4DNU5|Q8TCQ7|Q8WVE1	Missense_Mutation	SNP	ENST00000544117.2	37	c.32C>G	CCDS8763.1	.	.	.	.	.	.	.	.	.	.	g	8.856	0.945656	0.18356	.	.	ENSG00000167528	ENST00000301042;ENST00000544117;ENST00000548932	T;T;T	0.12255	3.28;3.28;2.7	4.83	0.753	0.18404	.	1.132720	0.06650	N	0.762566	T	0.07234	0.0183	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.39961	-0.9588	10	0.48119	T	0.1	.	0.7966	0.01067	0.3951:0.1709:0.1017:0.3322	.	11	Q96N77	ZN641_HUMAN	C	11	ENSP00000301042:S11C;ENSP00000437832:S11C;ENSP00000448810:S11C	ENSP00000301042:S11C	S	-	2	0	ZNF641	47028151	0.011000	0.17503	0.002000	0.10522	0.979000	0.70002	0.383000	0.20651	0.365000	0.24400	-0.482000	0.04802	TCT		0.483	ZNF641-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000406518.1	NM_152320		13	38	0	0	0	1	0	13	38					C	48741884	G	C	48741884	3	2	421	1	0	0	0	0	1	0	0	0	18054	942	33	5	1407	5	ZNF641	12	48741884	Missense_Mutation	SNP	G	TCGA-VP-AA1N-01A-31D-A41K-08	41564363	48741884	85110011	25	20390											
FOXA1	3169	broad.mit.edu	37	chr14	38061229	38061237	+	In_Frame_Del	DEL	ACATGTTGC	ACATGTTGC	-																															caagtagcagccgttctcgaAcatgttgccggagtccgggt																								rs539948672		TCGA-VP-AA1N-01A-31D-A41K-08	TCGA-VP-AA1N-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdd3c350-9cd0-45f3-a822-6174c4edfba0	df551c39-d578-49ea-8e80-24c14dbb340d	g.chr14:38061229_38061237delACATGTTGC	ENST00000250448.2	-	2	813_821	c.752_760delGCAACATGT	c.(751-762)ggcaacatgttc>gtc	p.251_254GNMF>V	FOXA1_ENST00000540786.1_In_Frame_Del_p.218_221GNMF>V|FOXA1_ENST00000545425.2_5'UTR	NM_004496.3	NP_004487.2	P55317	FOXA1_HUMAN	forkhead box A1	251					anatomical structure formation involved in morphogenesis (GO:0048646)|chromatin remodeling (GO:0006338)|dorsal/ventral neural tube patterning (GO:0021904)|epithelial cell maturation involved in prostate gland development (GO:0060743)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|epithelial-mesenchymal signaling involved in prostate gland development (GO:0060738)|glucose homeostasis (GO:0042593)|hormone metabolic process (GO:0042445)|lung epithelial cell differentiation (GO:0060487)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron fate specification (GO:0048665)|positive regulation of cell-cell adhesion mediated by cadherin (GO:2000049)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prostate gland epithelium morphogenesis (GO:0060740)|prostate gland stromal morphogenesis (GO:0060741)|response to estradiol (GO:0032355)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)	microvillus (GO:0005902)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)	p.M253R(2)|p.M253K(2)		breast(1)|endometrium(1)|large_intestine(2)|lung(3)|prostate(12)	19	Breast(36;0.0954)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		Lung(238;5.41e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0454)|LUSC - Lung squamous cell carcinoma(13;0.0917)|all cancers(34;0.0925)|BRCA - Breast invasive adenocarcinoma(188;0.239)	GBM - Glioblastoma multiforme(112;0.0222)		CCGTTCTCGAACATGTTGCCGGAGTCCGG	0.689																																						ENST00000250448.2																			4	Substitution - Missense(4)	p.M253R(2)|p.M253K(2)	prostate(4)	breast(1)|endometrium(1)|large_intestine(2)|lung(3)|prostate(12)	19						c.(751-762)gtc>g		forkhead box A1																																				SO:0001651	inframe_deletion	3169				chromatin remodeling|embryo development|epithelial cell maturation involved in prostate gland development|epithelial tube branching involved in lung morphogenesis|epithelial-mesenchymal signaling involved in prostate gland development|glucose homeostasis|lung epithelial cell differentiation|negative regulation of survival gene product expression|neuron fate specification|pattern specification process|positive regulation of estrogen receptor signaling pathway|positive regulation of mitotic cell cycle|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|prostate gland epithelium morphogenesis|prostate gland stromal morphogenesis|response to estradiol stimulus|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development	transcription factor complex	DNA bending activity|double-stranded DNA binding|protein domain specific binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding	g.chr14:38061229_38061237delACATGTTGC	U39840	CCDS9665.1	14q12-q13	2008-04-10		2002-09-20	ENSG00000129514	ENSG00000129514		"Forkhead boxes"	5021	protein-coding gene	gene with protein product		602294	"hepatocyte nuclear factor 3, alpha"	HNF3A		9119385, 8652662	Standard	NM_004496		Approved		uc001wuf.4	P55317	OTTHUMG00000140253	ENST00000250448.2:c.752_760delGCAACATGT	14.37:g.38061229_38061237delACATGTTGC	ENSP00000250448:p.Gly251_Phe254delinsVal					FOXA1_ENST00000540786.1_In_Frame_Del_p.GNMF218del|FOXA1_ENST00000545425.2_5'UTR	p.GNMF251del	NM_004496.3	NP_004487.2	P55317	FOXA1_HUMAN	Lung(238;5.41e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0454)|LUSC - Lung squamous cell carcinoma(13;0.0917)|all cancers(34;0.0925)|BRCA - Breast invasive adenocarcinoma(188;0.239)	GBM - Glioblastoma multiforme(112;0.0222)	2	813_821	-	Breast(36;0.0954)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		251					B2R9H6|B7ZAP5|Q9H2A0	In_Frame_Del	DEL	ENST00000250448.2	37	c.752_760delGCAACATGT	CCDS9665.1																																																																																				0.689	FOXA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276735.1			8	15						8	15	---	---	---	---	-	38061237	ACATGTTGC	-	38061229	7	5	421	1	0	1	0	1	0	0	0	0	5989	43	2	0	662	0	FOXA1	14	38061229	In_Frame_Del	DEL	ACATGTTGC	TCGA-VP-AA1N-01A-31D-A41K-08		38061229	69288311	26	20391											
SERPINA1	5265	broad.mit.edu	37	chr14	94849095	94849095	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aaggcttctgagtggtacaaCtttttaacatcctccaaaaa	14	12	6	9	0	1	1	0	1	1	0	3	1	3	1	2	2	3	2	2	2	6	5			TCGA-VP-AA1N-01A-31D-A41K-08	TCGA-VP-AA1N-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdd3c350-9cd0-45f3-a822-6174c4edfba0	df551c39-d578-49ea-8e80-24c14dbb340d	g.chr14:94849095C>A	ENST00000448921.1	-	4	1052	c.480G>T	c.(478-480)aaG>aaT	p.K160N	SERPINA1_ENST00000404814.4_Missense_Mutation_p.K160N|SERPINA1_ENST00000449399.3_Missense_Mutation_p.K160N|SERPINA1_ENST00000355814.4_Missense_Mutation_p.K160N|SERPINA1_ENST00000393087.4_Missense_Mutation_p.K160N|SERPINA1_ENST00000393088.4_Missense_Mutation_p.K160N|SERPINA1_ENST00000555289.1_5'Flank|SERPINA1_ENST00000402629.1_Missense_Mutation_p.K160N|SERPINA1_ENST00000440909.1_Missense_Mutation_p.K160N|SERPINA1_ENST00000437397.1_Missense_Mutation_p.K160N	NM_001002236.2|NM_001127701.1|NM_001127703.1|NM_001127704.1|NM_001127705.1	NP_001002236.1|NP_001121173.1|NP_001121175.1|NP_001121176.1|NP_001121177.1	P01009	A1AT_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1	160					acute-phase response (GO:0006953)|blood coagulation (GO:0007596)|negative regulation of endopeptidase activity (GO:0010951)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of proteolysis (GO:0030162)	endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|platelet alpha granule lumen (GO:0031093)|proteinaceous extracellular matrix (GO:0005578)	glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|protease binding (GO:0002020)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|skin(6)|stomach(1)	24		all_cancers(154;0.0649)|all_epithelial(191;0.223)		Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221)		AGTGGTACAACTTTTTAACAT	0.507																																						ENST00000448921.1																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|skin(6)|stomach(1)	24						c.(478-480)aaG>aaT		serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1	Alpha-1-proteinase inhibitor(DB00058)						109	109	109					14																	94849095		2203	4300	6503	SO:0001583	missense	5265				acute-phase response|platelet activation|platelet degranulation|regulation of proteolysis	extracellular space|platelet alpha granule lumen|proteinaceous extracellular matrix	protease binding|serine-type endopeptidase inhibitor activity	g.chr14:94849095C>A	X01683	CCDS9925.1	14q32.1	2014-02-18	2005-08-18		ENSG00000197249	ENSG00000197249		"Serine (or cysteine) peptidase inhibitors"	8941	protein-coding gene	gene with protein product	"protease inhibitor 1 (anti-elastase), alpha-1-antitrypsin"	107400	"serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1"	PI		24172014	Standard	NM_000295		Approved	AAT, A1A, PI1, alpha-1-antitrypsin, A1AT, alpha1AT	uc010aux.3	P01009	OTTHUMG00000150355	ENST00000448921.1:c.480G>T	14.37:g.94849095C>A	ENSP00000416066:p.Lys160Asn					SERPINA1_ENST00000393088.4_Missense_Mutation_p.K160N|SERPINA1_ENST00000393087.4_Missense_Mutation_p.K160N|SERPINA1_ENST00000437397.1_Missense_Mutation_p.K160N|SERPINA1_ENST00000404814.4_Missense_Mutation_p.K160N|SERPINA1_ENST00000449399.3_Missense_Mutation_p.K160N|SERPINA1_ENST00000402629.1_Missense_Mutation_p.K160N|SERPINA1_ENST00000355814.4_Missense_Mutation_p.K160N|SERPINA1_ENST00000440909.1_Missense_Mutation_p.K160N	p.K160N	NM_001002236.2|NM_001127701.1|NM_001127703.1|NM_001127704.1|NM_001127705.1	NP_001002236.1|NP_001121173.1|NP_001121175.1|NP_001121176.1|NP_001121177.1	P01009	A1AT_HUMAN		Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221)	4	1052	-		all_cancers(154;0.0649)|all_epithelial(191;0.223)	160					A6PX14|B2RDQ8|Q0PVP5|Q13672|Q53XB8|Q5U0M1|Q7M4R2|Q86U18|Q86U19|Q96BF9|Q96ES1|Q9P1P0|Q9UCE6|Q9UCM3	Missense_Mutation	SNP	ENST00000448921.1	37	c.480G>T	CCDS9925.1	.	.	.	.	.	.	.	.	.	.	C	0.020	-1.440500	0.01098	.	.	ENSG00000197249	ENST00000440909;ENST00000448921;ENST00000437397;ENST00000355814;ENST00000393087;ENST00000393088;ENST00000404814;ENST00000449399;ENST00000402629;ENST00000554720	D;D;D;D;D;D;D;D;D;D	0.85258	-1.96;-1.96;-1.96;-1.96;-1.96;-1.96;-1.96;-1.96;-1.96;-1.96	5.94	-10.9	0.00192	Serpin domain (3);	1.015660	0.07862	N	0.966549	T	0.58075	0.2097	N	0.16098	0.37	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.52403	-0.8580	10	0.02654	T	1	.	2.9011	0.05706	0.167:0.2598:0.3549:0.2183	.	160;160	P01009-2;P01009	.;A1AT_HUMAN	N	160;160;160;160;160;160;160;160;160;74	ENSP00000390299:K160N;ENSP00000416066:K160N;ENSP00000408474:K160N;ENSP00000348068:K160N;ENSP00000376802:K160N;ENSP00000376803:K160N;ENSP00000385960:K160N;ENSP00000416354:K160N;ENSP00000386094:K160N;ENSP00000450561:K74N	ENSP00000348068:K160N	K	-	3	2	SERPINA1	93918848	0.000000	0.05858	0.000000	0.03702	0.379000	0.30106	-8.586000	0.00019	-2.181000	0.00765	-1.365000	0.01206	AAG		0.507	SERPINA1-203	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317768.2	NM_001002235		8	95	1	0	0.27861	1	0.27861	8	95					A	94849095	C	A	94849095	3	1	421	1	0	0	0	0	1	0	0	0	14086	564	20	5	792	5	SERPINA1	14	94849095	Missense_Mutation	SNP	C	TCGA-VP-AA1N-01A-31D-A41K-08	56787866	94849095	12500445	27	20392											
AVEN	57099	broad.mit.edu	37	chr15	34295292	34295292	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtgactctccactttcattaTtgacctctttttcaatatct	8	19	3	11	0	5	2	2	2	3	0	6	2	5	2	2	0	0	0	2	0	3	6	rs370441123		TCGA-VP-AA1N-01A-31D-A41K-08	TCGA-VP-AA1N-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdd3c350-9cd0-45f3-a822-6174c4edfba0	df551c39-d578-49ea-8e80-24c14dbb340d	g.chr15:34295292T>C	ENST00000306730.3	-	2	515	c.386A>G	c.(385-387)aAt>aGt	p.N129S	CHRM5_ENST00000383263.5_Intron	NM_020371.2	NP_065104.1	Q9NQS1	AVEN_HUMAN	apoptosis, caspase activation inhibitor	129					apoptotic process (GO:0006915)|negative regulation of apoptotic process (GO:0043066)	intracellular (GO:0005622)|membrane (GO:0016020)				cervix(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)|stomach(1)	7		all_lung(180;1.78e-08)		all cancers(64;1.66e-15)|GBM - Glioblastoma multiforme(113;1.42e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0359)		ACTTTCATTATTGACCTCTTT	0.398																																						ENST00000306730.3																			0				cervix(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)|stomach(1)	7						c.(385-387)aAt>aGt		apoptosis, caspase activation inhibitor		T	,SER/ASN	0,4402		0,0,2201	181	153	162		,386	4.7	0.8	15		162	1,8595	1.2+/-3.3	0,1,4297	no	intron,missense	CHRM5,AVEN	NM_012125.3,NM_020371.2	,46	0,1,6498	CC,CT,TT		0.0116,0.0,0.0077	,benign	,129/363	34295292	1,12997	2201	4298	6499	SO:0001583	missense	57099				anti-apoptosis|apoptosis	endomembrane system|intracellular|membrane|membrane fraction	protein binding	g.chr15:34295292T>C	AF283508	CCDS10030.1	15q13.1	2011-10-19		2008-07-07	ENSG00000169857	ENSG00000169857			13509	protein-coding gene	gene with protein product	"cell death regulator aven", "programmed cell death 12"	605265				10949025	Standard	XM_005254563		Approved	PDCD12	uc001zhj.3	Q9NQS1	OTTHUMG00000129371	ENST00000306730.3:c.386A>G	15.37:g.34295292T>C	ENSP00000306822:p.Asn129Ser					CHRM5_ENST00000383263.5_Intron	p.N129S	NM_020371.2	NP_065104.1	Q9NQS1	AVEN_HUMAN		all cancers(64;1.66e-15)|GBM - Glioblastoma multiforme(113;1.42e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0359)	2	515	-		all_lung(180;1.78e-08)	129						Missense_Mutation	SNP	ENST00000306730.3	37	c.386A>G	CCDS10030.1	.	.	.	.	.	.	.	.	.	.	T	13.30	2.197450	0.38806	0.0	1.16E-4	ENSG00000169857	ENST00000306730	T	0.40756	1.02	4.71	4.71	0.59529	.	0.641703	0.15954	N	0.236619	T	0.29976	0.0750	N	0.22421	0.69	0.80722	D	1	B	0.27732	0.187	B	0.28011	0.085	T	0.07028	-1.0794	10	0.17832	T	0.49	-2.7263	13.9993	0.64424	0.0:0.0:0.0:1.0	.	129	Q9NQS1	AVEN_HUMAN	S	129	ENSP00000306822:N129S	ENSP00000306822:N129S	N	-	2	0	AVEN	32082584	0.701000	0.27806	0.816000	0.32577	0.978000	0.69477	1.761000	0.38440	1.978000	0.57642	0.482000	0.46254	AAT		0.398	AVEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251523.2	NM_020371		24	49	0	0	0	1	0	24	49					C	34295292	T	C	34295292	3	2	421	1	0	0	0	0	1	0	0	0	1226	1493	52	4	722	4	AVEN	15	34295292	Missense_Mutation	SNP	T	TCGA-VP-AA1N-01A-31D-A41K-08		34295292	68236100	28	20393											
BAHD1	22893	broad.mit.edu	37	chr15	40750818	40750818	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aggtcacctcacagggcgccGcaagaattacccacttcgta	11	7	9	14	3	2	1	2	0	0	1	3	1	2	1	3	2	1	2	3	2	4	3			TCGA-VP-AA1N-01A-31D-A41K-08	TCGA-VP-AA1N-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdd3c350-9cd0-45f3-a822-6174c4edfba0	df551c39-d578-49ea-8e80-24c14dbb340d	g.chr15:40750818G>A	ENST00000416165.1	+	2	226	c.155G>A	c.(154-156)cGc>cAc	p.R52H	BAHD1_ENST00000561234.1_Missense_Mutation_p.R52H|BAHD1_ENST00000560846.1_Missense_Mutation_p.R52H	NM_014952.3	NP_055767.3	Q8TBE0	BAHD1_HUMAN	bromo adjacent homology domain containing 1	52					heterochromatin assembly (GO:0031507)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	chromatin silencing complex (GO:0005677)|chromosome (GO:0005694)	chromatin binding (GO:0003682)			NS(1)|endometrium(6)|kidney(3)|large_intestine(3)|lung(10)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	28		all_cancers(109;8.28e-19)|all_epithelial(112;2.64e-15)|Lung NSC(122;5.14e-11)|all_lung(180;1.27e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.46e-06)|BRCA - Breast invasive adenocarcinoma(123;0.08)		ACAGGGCGCCGCAAGAATTAC	0.627																																						ENST00000561234.1																			0				NS(1)|endometrium(6)|kidney(3)|large_intestine(3)|lung(10)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	28						c.(154-156)cGc>cAc		bromo adjacent homology domain containing 1							77	72	74					15																	40750818		2203	4300	6503	SO:0001583	missense	22893				heterochromatin formation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromatin silencing complex|chromosome	chromatin binding|DNA binding|protein binding	g.chr15:40750818G>A	AL833923	CCDS10058.1, CCDS73705.1	15q14	2005-11-10			ENSG00000140320	ENSG00000140320			29153	protein-coding gene	gene with protein product		613880				10231032	Standard	XM_005254229		Approved	KIAA0945	uc001zlu.2	Q8TBE0	OTTHUMG00000129982	ENST00000416165.1:c.155G>A	15.37:g.40750818G>A	ENSP00000396976:p.Arg52His					BAHD1_ENST00000560846.1_Missense_Mutation_p.R52H|BAHD1_ENST00000416165.1_Missense_Mutation_p.R52H	p.R52H			Q8TBE0	BAHD1_HUMAN		GBM - Glioblastoma multiforme(113;3.46e-06)|BRCA - Breast invasive adenocarcinoma(123;0.08)	2	414	+		all_cancers(109;8.28e-19)|all_epithelial(112;2.64e-15)|Lung NSC(122;5.14e-11)|all_lung(180;1.27e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)	52					Q8NDF7|Q9Y2F4	Missense_Mutation	SNP	ENST00000416165.1	37	c.155G>A	CCDS10058.1	.	.	.	.	.	.	.	.	.	.	G	24.1	4.490014	0.84962	.	.	ENSG00000140320	ENST00000416165	T	0.27256	1.68	5.14	5.14	0.70334	.	0.000000	0.85682	D	0.000000	T	0.36799	0.0980	N	0.14661	0.345	0.53688	D	0.999977	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.997;0.999	T	0.41574	-0.9501	10	0.87932	D	0	-21.6492	18.7829	0.91941	0.0:0.0:1.0:0.0	.	52;52;52	Q8TBE0-3;Q8TBE0;Q8TBE0-2	.;BAHD1_HUMAN;.	H	52	ENSP00000396976:R52H	ENSP00000396976:R52H	R	+	2	0	BAHD1	38538110	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.173000	0.31920	2.668000	0.90789	0.655000	0.94253	CGC		0.627	BAHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252248.1	NM_014952		23	52	0	0	0	1	0	23	52					A	40750818	G	A	40750818	3	1	421	1	0	0	0	0	1	0	0	0	1297	1087	38	1	157	1	BAHD1	15	40750818	Missense_Mutation	SNP	G	TCGA-VP-AA1N-01A-31D-A41K-08	6455526	40750818	61780574	29	20394											
PAQR4	124222	broad.mit.edu	37	chr16	3021258	3021258	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ggcacacattgcgtggcctgCcttgcaccccctgcaggctc	5	8	11	17	1	0	0	0	0	0	0	1	0	0	0	4	3	4	4	4	3	0	2			TCGA-VP-AA1N-01A-31D-A41K-08	TCGA-VP-AA1N-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdd3c350-9cd0-45f3-a822-6174c4edfba0	df551c39-d578-49ea-8e80-24c14dbb340d	g.chr16:3021258C>T	ENST00000318782.8	+	2	697	c.267C>T	c.(265-267)tgC>tgT	p.C89C	PAQR4_ENST00000293978.8_Intron|PAQR4_ENST00000572687.1_Intron|PAQR4_ENST00000576565.1_Silent_p.C22C|PAQR4_ENST00000574988.1_Silent_p.C22C|PKMYT1_ENST00000571102.1_5'Flank|PKMYT1_ENST00000431515.2_Intron	NM_001284513.1|NM_152341.3	NP_001271442.1|NP_689554.2	Q8N4S7	PAQR4_HUMAN	progestin and adipoQ receptor family member IV	89						integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	8						GCGTGGCCTGCCTTGCACCCC	0.662																																						ENST00000318782.8																			0				kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	8						c.(265-267)tgC>tgT		progestin and adipoQ receptor family member IV							57	56	56					16																	3021258		2198	4299	6497	SO:0001819	synonymous_variant	124222					integral to membrane	receptor activity	g.chr16:3021258C>T		CCDS10485.1, CCDS66911.1, CCDS66912.1, CCDS73814.1	16p13	2008-05-02			ENSG00000162073	ENSG00000162073			26386	protein-coding gene	gene with protein product		614578				12477932	Standard	XM_005255112		Approved	FLJ30002	uc002csj.4	Q8N4S7	OTTHUMG00000128977	ENST00000318782.8:c.267C>T	16.37:g.3021258C>T						PKMYT1_ENST00000431515.2_Intron|PAQR4_ENST00000293978.8_Intron|PAQR4_ENST00000574988.1_Silent_p.C22C|PAQR4_ENST00000576565.1_Silent_p.C22C|PAQR4_ENST00000572687.1_Intron	p.C89C	NM_152341.3	NP_689554.2	Q8N4S7	PAQR4_HUMAN			2	697	+			89					A8K5Q8|D3DUA2|D3DUA3|Q8NAS6|Q96NW1	Silent	SNP	ENST00000318782.8	37	c.267C>T	CCDS10485.1																																																																																				0.662	PAQR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250966.1	NM_152341		6	41	0	0	0	1	0	6	41					T	3021258	C	T	3021258	2	4	421	1	0	0	0	0	0	0	0	1	11437	747	26	3		3	PAQR4	16	3021258	Silent	SNP	C	TCGA-VP-AA1N-01A-31D-A41K-08		3021258	87333495	30	20395											
WSCD1	23302	broad.mit.edu	37	chr17	5984071	5984071	+	Frame_Shift_Del	DEL	C	C	-																															gcctacctgatgaccggcagCctgctgctgctgcagcgggt																										TCGA-VP-AA1N-01A-31D-A41K-08	TCGA-VP-AA1N-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdd3c350-9cd0-45f3-a822-6174c4edfba0	df551c39-d578-49ea-8e80-24c14dbb340d	g.chr17:5984071delC	ENST00000574946.1	+	2	483	c.93delC	c.(91-93)agcfs	p.S31fs	WSCD1_ENST00000317744.5_Frame_Shift_Del_p.S31fs|WSCD1_ENST00000573634.1_Intron|WSCD1_ENST00000539421.1_Frame_Shift_Del_p.S31fs|WSCD1_ENST00000574232.1_Frame_Shift_Del_p.S31fs			Q658N2	WSCD1_HUMAN	WSC domain containing 1	31						integral component of membrane (GO:0016021)	sulfotransferase activity (GO:0008146)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(1)	35						TGACCGGCAGCCTGCTGCTGC	0.682																																						ENST00000574946.1																			0				breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(1)	35						c.(91-93)agfs		WSC domain containing 1							16	17	17					17																	5984071		2130	4128	6258	SO:0001589	frameshift_variant	23302					integral to membrane	sulfotransferase activity	g.chr17:5984071delC		CCDS32538.1	17p13.2	2008-02-05				ENSG00000179314			29060	protein-coding gene	gene with protein product							Standard	XM_005256572		Approved	KIAA0523	uc002gcn.3	Q658N2		ENST00000574946.1:c.93delC	17.37:g.5984071delC	ENSP00000460825:p.Ser31fs					WSCD1_ENST00000574232.1_Frame_Shift_Del_p.S31fs|WSCD1_ENST00000317744.5_Frame_Shift_Del_p.S31fs|WSCD1_ENST00000573634.1_Intron|WSCD1_ENST00000539421.1_Frame_Shift_Del_p.S31fs	p.S31fs			Q658N2	WSCD1_HUMAN			2	483	+			31					A8K0N8|D3DTM3|O60276|Q96G45	Frame_Shift_Del	DEL	ENST00000574946.1	37	c.93delC	CCDS32538.1																																																																																				0.682	WSCD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438965.4	NM_015253		8	13						8	13	---	---	---	---	-	5984071	C	-	5984071	7	5	421	1	0	1	0	1	0	0	0	0	17403	738	26	0	95	0	WSCD1	17	5984071	Frame_Shift_Del	DEL	C	TCGA-VP-AA1N-01A-31D-A41K-08		5984071	75211139	31	20396											
MYH13	8735	broad.mit.edu	37	chr17	10212891	10212891	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgggtctctgccatctggCggttggagtggcccagctga	4	11	15	11	1	3	1	0	1	3	0	4	2	3	2	2	5	2	2	2	5	0	1			TCGA-VP-AA1N-01A-31D-A41K-08	TCGA-VP-AA1N-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdd3c350-9cd0-45f3-a822-6174c4edfba0	df551c39-d578-49ea-8e80-24c14dbb340d	g.chr17:10212891C>T	ENST00000418404.3	-	33	5076	c.4913G>A	c.(4912-4914)cGc>cAc	p.R1638H	MYH13_ENST00000252172.4_Missense_Mutation_p.R1638H|RP11-401O9.4_ENST00000609088.1_RNA			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	1638					cellular response to starvation (GO:0009267)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)	extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						TGCCATCTGGCGGTTGGAGTG	0.622																																						ENST00000418404.3																			0				breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						c.(4912-4914)cGc>cAc		myosin, heavy chain 13, skeletal muscle							39	41	41					17																	10212891		2172	4289	6461	SO:0001583	missense	8735				muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr17:10212891C>T	AF075248	CCDS45613.1	17p13	2011-09-27	2006-09-29			ENSG00000006788		"Myosins / Myosin superfamily : Class II"	7571	protein-coding gene	gene with protein product	"extraocular muscle myosin heavy chain", "extraocular myosin heavy chain"	603487	"myosin, heavy polypeptide 13, skeletal muscle"			9806854	Standard	NM_003802		Approved	MyHC-eo	uc002gmk.1	Q9UKX3		ENST00000418404.3:c.4913G>A	17.37:g.10212891C>T	ENSP00000404570:p.Arg1638His					MYH13_ENST00000570743.1_Missense_Mutation_p.R1638H|MYH13_ENST00000252172.4_Missense_Mutation_p.R1638H	p.R1638H			Q9UKX3	MYH13_HUMAN			33	5076	-			1638					O95252|Q9P0U8	Missense_Mutation	SNP	ENST00000418404.3	37	c.4913G>A	CCDS45613.1	.	.	.	.	.	.	.	.	.	.	C	17.25	3.342235	0.61073	.	.	ENSG00000006788	ENST00000252172	D	0.81908	-1.55	4.32	3.34	0.38264	Myosin tail (1);	.	.	.	.	D	0.84701	0.5530	M	0.85373	2.75	0.34937	D	0.749933	B	0.23128	0.08	B	0.27170	0.077	D	0.88884	0.3341	9	0.87932	D	0	.	13.0259	0.58814	0.0:0.9172:0.0:0.0827	.	1638	Q9UKX3	MYH13_HUMAN	H	1638	ENSP00000252172:R1638H	ENSP00000252172:R1638H	R	-	2	0	MYH13	10153616	1.000000	0.71417	0.998000	0.56505	0.989000	0.77384	5.841000	0.69409	2.396000	0.81511	0.563000	0.77884	CGC		0.622	MYH13-003	KNOWN	alternative_3_UTR|alternative_5_UTR|NMD_exception|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442255.1	NM_003802		6	16	0	0	0	1	0	6	16					T	10212891	C	T	10212891	3	4	421	1	0	0	0	0	1	0	0	0	10032	768	27	1	935	1	MYH13	17	10212891	Missense_Mutation	SNP	C	TCGA-VP-AA1N-01A-31D-A41K-08	4228820	10212891	70982319	32	20397											
PTRF	284119	broad.mit.edu	37	chr17	40557272	40557272	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acctccaccgcctcgtccgaCgaaagctccagcgccgctgc	7	5	9	20	6	0	0	0	0	0	0	4	2	3	0	7	0	3	2	7	0	1	0			TCGA-VP-AA1N-01A-31D-A41K-08	TCGA-VP-AA1N-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdd3c350-9cd0-45f3-a822-6174c4edfba0	df551c39-d578-49ea-8e80-24c14dbb340d	g.chr17:40557272C>T	ENST00000357037.5	-	2	1025	c.606G>A	c.(604-606)tcG>tcA	p.S202S		NM_012232.5	NP_036364.2			polymerase I and transcript release factor											breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|urinary_tract(1)	17		all_cancers(22;0.00146)|Breast(137;0.00116)|all_epithelial(22;0.0134)		BRCA - Breast invasive adenocarcinoma(366;0.193)		CCTCGTCCGACGAAAGCTCCA	0.667																																						ENST00000357037.5																			0				breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|urinary_tract(1)	17						c.(604-606)tcG>tcA		polymerase I and transcript release factor							83	88	87					17																	40557272		2203	4300	6503	SO:0001819	synonymous_variant	284119				regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription|transcription initiation from RNA polymerase I promoter	caveola|cytosol|endoplasmic reticulum|microsome|mitochondrion|nucleoplasm	protein binding|rRNA primary transcript binding	g.chr17:40557272C>T	AF000421	CCDS11425.1	17q21.31	2011-04-20				ENSG00000177469			9688	protein-coding gene	gene with protein product		603198				9582279	Standard	NM_012232		Approved	cavin-1, CAVIN1	uc002hzo.3	Q6NZI2		ENST00000357037.5:c.606G>A	17.37:g.40557272C>T							p.S202S	NM_012232.5	NP_036364.2	Q6NZI2	PTRF_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.193)	2	1025	-		all_cancers(22;0.00146)|Breast(137;0.00116)|all_epithelial(22;0.0134)	202						Silent	SNP	ENST00000357037.5	37	c.606G>A	CCDS11425.1																																																																																				0.667	PTRF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449938.1	NM_012232		8	108	0	0	0	1	0	8	108					T	40557272	C	T	40557272	2	4	421	1	0	0	0	0	0	0	0	1	12815	523	19	1		1	PTRF	17	40557272	Silent	SNP	C	TCGA-VP-AA1N-01A-31D-A41K-08	30344381	40557272	40637938	33	20398											
THOC4	10189	broad.mit.edu	37	chr17	79847127	79847127	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cttccgctcaaagtgcacgtCtgctgttcctaagctgcgac	7	11	9	14	3	2	0	1	0	1	0	4	1	4	0	2	0	4	5	2	0	2	3			TCGA-VP-AA1N-01A-31D-A41K-08	TCGA-VP-AA1N-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdd3c350-9cd0-45f3-a822-6174c4edfba0	df551c39-d578-49ea-8e80-24c14dbb340d	g.chr17:79847127C>T	ENST00000331204.4	-	3	474	c.448G>A	c.(448-450)Gac>Aac	p.D150N	ANAPC11_ENST00000574924.2_5'Flank|ANAPC11_ENST00000571024.2_5'Flank|ANAPC11_ENST00000579978.1_5'Flank|ANAPC11_ENST00000392376.3_5'Flank|ALYREF_ENST00000512673.1_5'UTR|ANAPC11_ENST00000578550.1_5'Flank|ANAPC11_ENST00000344877.5_5'Flank|ANAPC11_ENST00000571570.1_5'Flank|ANAPC11_ENST00000583839.1_5'Flank|ANAPC11_ENST00000582222.1_5'Flank|ANAPC11_ENST00000571874.2_5'Flank|ANAPC11_ENST00000579133.1_5'Flank|ANAPC11_ENST00000572851.2_5'Flank|ALYREF_ENST00000505490.2_Missense_Mutation_p.D157N|ANAPC11_ENST00000577425.1_5'Flank|ANAPC11_ENST00000572639.1_5'Flank|ANAPC11_ENST00000577747.1_5'Flank|ANAPC11_ENST00000357385.3_5'Flank|ANAPC11_ENST00000584314.1_5'Flank	NM_005782.3	NP_005773.3	Q86V81	THOC4_HUMAN	Aly/REF export factor	150	Ala/Arg/Gly-rich.|Interaction with HHV-8 ORF57 protein and with ICP27 from HHV-1. {ECO:0000250}.|RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.			D -> N (in Ref. 5; AAD09608). {ECO:0000305}.	gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA splicing, via spliceosome (GO:0000398)|osteoblast differentiation (GO:0001649)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|regulation of DNA recombination (GO:0000018)|replication fork processing (GO:0031297)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)|viral mRNA export from host cell nucleus (GO:0046784)	catalytic step 2 spliceosome (GO:0071013)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|transcription export complex (GO:0000346)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|single-stranded DNA binding (GO:0003697)										AAGTGCACGTCTGCTGTTCCT	0.562																																						ENST00000331204.4																			0											c.(448-450)Gac>Aac		Aly/REF export factor							136	108	118					17																	79847127		2203	4300	6503	SO:0001583	missense	10189				intronless viral mRNA export from host nucleus|mRNA 3'-end processing|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytosol|nuclear speck|transcription export complex	nucleotide binding|protein binding|RNA binding	g.chr17:79847127C>T	AF047002	CCDS32768.1, CCDS32768.2	17q25.3	2013-02-12	2011-12-12	2011-12-12	ENSG00000183684	ENSG00000183684		"THO complex subunits", "RNA binding motif (RRM) containing"	19071	protein-coding gene	gene with protein product		604171	"THO complex 4"	THOC4		11032328	Standard	NM_005782		Approved	ALY, BEF, ALY/REF, REF	uc002kbu.2	Q86V81	OTTHUMG00000160470	ENST00000331204.4:c.448G>A	17.37:g.79847127C>T	ENSP00000331817:p.Asp150Asn					ALYREF_ENST00000505490.2_Missense_Mutation_p.D157N|ALYREF_ENST00000512673.1_5'UTR	p.D150N	NM_005782.3	NP_005773.3	Q86V81	THOC4_HUMAN			3	474	-			150	D -> N (in Ref. 5; AAD09608).		Ala/Arg/Gly-rich.|RRM.		O43672	Missense_Mutation	SNP	ENST00000331204.4	37	c.448G>A		.	.	.	.	.	.	.	.	.	.	C	20.6	4.024146	0.75390	.	.	ENSG00000183684	ENST00000331204;ENST00000505490	T;T	0.74106	-0.81;-0.81	4.88	3.88	0.44766	.	0.000000	0.85682	D	0.000000	T	0.72179	0.3428	N	0.05124	-0.11	0.53688	D	0.999977	P	0.47302	0.893	D	0.66084	0.941	T	0.78809	-0.2058	10	0.66056	D	0.02	.	15.0207	0.71630	0.0:0.8569:0.1431:0.0	.	157	E9PB61	.	N	150;157	ENSP00000331817:D150N;ENSP00000421592:D157N	ENSP00000331817:D150N	D	-	1	0	THOC4	77440423	1.000000	0.71417	0.046000	0.18839	0.979000	0.70002	7.165000	0.77544	1.219000	0.43474	0.561000	0.74099	GAC		0.562	ALYREF-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_005782		26	34	0	0	0	1	0	26	34					T	79847127	C	T	79847127	3	4	421	1	0	0	0	0	1	0	0	0	15864	913	32	3	341	3	THOC4	17	79847127	Missense_Mutation	SNP	C	TCGA-VP-AA1N-01A-31D-A41K-08	39289855	79847127	1348083	34	20399											
ADAMTS10	81794	broad.mit.edu	37	chr19	8665932	8665932	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cggctgaccgatcgcttcagGcctggctggccacgctctgt	4	9	13	15	4	2	1	1	1	1	0	3	2	2	1	3	4	0	4	3	4	0	1			TCGA-VP-AA1N-01A-31D-A41K-08	TCGA-VP-AA1N-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdd3c350-9cd0-45f3-a822-6174c4edfba0	df551c39-d578-49ea-8e80-24c14dbb340d	g.chr19:8665932G>A	ENST00000597188.1	-	6	960	c.690C>T	c.(688-690)ggC>ggT	p.G230G	ADAMTS10_ENST00000596709.1_5'UTR|ADAMTS10_ENST00000270328.4_Silent_p.G230G	NM_030957.2	NP_112219.3	Q9H324	ATS10_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 10	230						extracellular matrix (GO:0031012)|microfibril (GO:0001527)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(16)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(3)|skin(10)|urinary_tract(1)	53						ATCGCTTCAGGCCTGGCTGGC	0.637																																						ENST00000270328.4																			0				NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(16)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(3)|skin(10)|urinary_tract(1)	53						c.(688-690)ggC>ggT		ADAM metallopeptidase with thrombospondin type 1 motif, 10							60	54	56					19																	8665932		2203	4300	6503	SO:0001819	synonymous_variant	81794				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr19:8665932G>A	AF163762	CCDS12206.1, CCDS62529.1	19p13.2	2014-08-12	2005-08-19		ENSG00000142303	ENSG00000142303		"ADAM metallopeptidases with thrombospondin type 1 motif"	13201	protein-coding gene	gene with protein product		608990	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 10"				Standard	XM_005272499		Approved	ADAM-TS10	uc002mkj.1	Q9H324	OTTHUMG00000182216	ENST00000597188.1:c.690C>T	19.37:g.8665932G>A						ADAMTS10_ENST00000596709.1_5'UTR|ADAMTS10_ENST00000597188.1_Silent_p.G230G	p.G230G			Q9H324	ATS10_HUMAN			5	956	-			230					M0QZE4	Silent	SNP	ENST00000597188.1	37	c.690C>T	CCDS12206.1																																																																																				0.637	ADAMTS10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460085.3	NM_030957		17	24	0	0	0	1	0	17	24					A	8665932	G	A	8665932	2	1	421	1	0	0	0	0	0	0	0	1	256	1190	42	3		3	ADAMTS10	19	8665932	Silent	SNP	G	TCGA-VP-AA1N-01A-31D-A41K-08		8665932	50463051	35	20400											
PROKR2	128674	broad.mit.edu	37	chr20	5283201	5283201	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtagtagagctgctgatccaCaggccagatctggccacaga	11	7	12	11	0	1	4	0	1	1	3	2	4	2	4	3	2	2	4	3	2	2	2			TCGA-VP-AA1N-01A-31D-A41K-08	TCGA-VP-AA1N-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdd3c350-9cd0-45f3-a822-6174c4edfba0	df551c39-d578-49ea-8e80-24c14dbb340d	g.chr20:5283201C>T	ENST00000217270.3	-	2	639	c.640G>A	c.(640-642)Gtg>Atg	p.V214M	PROKR2_ENST00000546004.1_Missense_Mutation_p.V214M	NM_144773.2	NP_658986.1	Q8NFJ6	PKR2_HUMAN	prokineticin receptor 2	214					circadian rhythm (GO:0007623)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	neuropeptide Y receptor activity (GO:0004983)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(3)|lung(22)|ovary(5)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	53						TGCTGATCCACAGGCCAGATC	0.512										HNSCC(71;0.22)																												ENST00000546004.1																			0				autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(3)|lung(22)|ovary(5)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	53						c.(640-642)Gtg>Atg		prokineticin receptor 2							143	133	136					20																	5283201		2203	4300	6503	SO:0001583	missense	128674					integral to membrane|plasma membrane	neuropeptide Y receptor activity	g.chr20:5283201C>T	AL121755	CCDS13089.1	20p12.3	2012-08-08	2006-02-15	2006-02-15	ENSG00000101292	ENSG00000101292		"GPCR / Class A : Prokineticin receptors"	15836	protein-coding gene	gene with protein product		607123	"G protein-coupled receptor 73-like 1", "Kallmann syndrome 3 (autosomal dominant)"	GPR73L1, KAL3		11886876, 17054399	Standard	NM_144773		Approved	GPR73b, PKR2, GPRg2, dJ680N4.3	uc010zqw.2	Q8NFJ6	OTTHUMG00000031800	ENST00000217270.3:c.640G>A	20.37:g.5283201C>T	ENSP00000217270:p.Val214Met	HNSCC(71;0.22)				PROKR2_ENST00000217270.3_Missense_Mutation_p.V214M	p.V214M			Q8NFJ6	PKR2_HUMAN			3	886	-			214					A5JUU1|Q2M3C0|Q5TDY1|Q9NTT0	Missense_Mutation	SNP	ENST00000217270.3	37	c.640G>A	CCDS13089.1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.352949	0.82132	.	.	ENSG00000101292	ENST00000546004;ENST00000217270	T;T	0.37584	1.19;1.19	5.31	5.31	0.75309	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.55847	0.1946	L	0.55990	1.75	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	T	0.54990	-0.8210	10	0.52906	T	0.07	.	16.4673	0.84083	0.0:1.0:0.0:0.0	.	214	Q8NFJ6	PKR2_HUMAN	M	214	ENSP00000440790:V214M;ENSP00000217270:V214M	ENSP00000217270:V214M	V	-	1	0	PROKR2	5231201	1.000000	0.71417	0.955000	0.39395	0.991000	0.79684	4.569000	0.60865	2.499000	0.84300	0.655000	0.94253	GTG		0.512	PROKR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077854.1	NM_144773		28	56	0	0	0	1	0	28	56					T	5283201	C	T	5283201	3	4	421	1	0	0	0	0	1	0	0	0	12553	478	17	3	517	3	PROKR2	20	5283201	Missense_Mutation	SNP	C	TCGA-VP-AA1N-01A-31D-A41K-08		5283201	57742319	36	20401											
ISM1	140862	broad.mit.edu	37	chr20	13251264	13251264	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caccaacccttccccagaccGcgattccgacaagagacggg	11	4	9	17	4	0	2	0	0	0	2	2	5	2	2	6	1	1	0	6	1	2	2	rs376195260		TCGA-VP-AA1N-01A-31D-A41K-08	TCGA-VP-AA1N-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdd3c350-9cd0-45f3-a822-6174c4edfba0	df551c39-d578-49ea-8e80-24c14dbb340d	g.chr20:13251264G>A	ENST00000262487.4	+	2	258	c.252G>A	c.(250-252)ccG>ccA	p.P84P	TASP1_ENST00000539805.1_Intron	NM_080826.1	NP_543016.1	B1AKI9	ISM1_HUMAN	isthmin 1, angiogenesis inhibitor	84						extracellular region (GO:0005576)				NS(1)|autonomic_ganglia(1)|endometrium(1)|large_intestine(8)|lung(5)|urinary_tract(1)	17						TCCCCAGACCGCGATTCCGAC	0.507																																						ENST00000262487.3																			0				NS(1)|autonomic_ganglia(1)|endometrium(1)|large_intestine(8)|lung(5)|urinary_tract(1)	17						c.(250-252)ccG>ccA		isthmin 1, angiogenesis inhibitor		G		0,3918		0,0,1959	89	87	88		252	0.8	1	20		88	2,8278		0,2,4138	no	coding-synonymous	ISM1	NM_080826.1		0,2,6097	AA,AG,GG		0.0242,0.0,0.0164		84/465	13251264	2,12196	1959	4140	6099	SO:0001819	synonymous_variant	140862					extracellular region		g.chr20:13251264G>A	AL133463	CCDS46579.1	20p12.1	2013-05-15	2013-05-15	2008-12-23	ENSG00000101230	ENSG00000101230			16213	protein-coding gene	gene with protein product		615793	"chromosome 20 open reading frame 82", "isthmin 1 homolog (zebrafish)"	C20orf82			Standard	NM_080826		Approved	bA149I18.1	uc010gce.1	B1AKI9		ENST00000262487.4:c.252G>A	20.37:g.13251264G>A						TASP1_ENST00000539805.1_Intron	p.P84P	NM_080826.1	NP_543016.1	B1AKI9	ISM1_HUMAN			2	258	+			84					Q8WVH9	Silent	SNP	ENST00000262487.4	37	c.252G>A	CCDS46579.1																																																																																				0.507	ISM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078039.2			4	16	0	0	0	1	0	4	16					A	13251264	G	A	13251264	2	1	421	1	0	0	0	0	0	0	0	1	7860	1074	38	1		1	ISM1	20	13251264	Silent	SNP	G	TCGA-VP-AA1N-01A-31D-A41K-08	7968063	13251264	49774256	37	20402											
CECR2	27443	broad.mit.edu	37	chr22	18027870	18027870	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctggccttgaagagaaaccaCcaggtgttggtacttcagag	11	9	12	9	0	1	3	1	1	0	2	1	4	1	3	3	3	2	2	3	3	3	4			TCGA-VP-AA1N-01A-31D-A41K-08	TCGA-VP-AA1N-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdd3c350-9cd0-45f3-a822-6174c4edfba0	df551c39-d578-49ea-8e80-24c14dbb340d	g.chr22:18027870C>A	ENST00000400585.2	+	17	2839	c.2401C>A	c.(2401-2403)Cca>Aca	p.P801T	CECR2_ENST00000262608.8_Missense_Mutation_p.P944T|CECR2_ENST00000400573.5_Missense_Mutation_p.P943T			Q9BXF3	CECR2_HUMAN	cat eye syndrome chromosome region, candidate 2	985					apoptotic DNA fragmentation (GO:0006309)|ATP-dependent chromatin remodeling (GO:0043044)|cytokinesis (GO:0000910)|cytoskeleton organization (GO:0007010)|execution phase of apoptosis (GO:0097194)|neural tube development (GO:0021915)|vesicle-mediated transport (GO:0016192)	CERF complex (GO:0090537)|nucleus (GO:0005634)				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	59		all_epithelial(15;0.139)		Lung(27;0.146)		AGAGAAACCACCAGGTGTTGG	0.473																																						ENST00000262608.8																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	59						c.(2830-2832)Cca>Aca		cat eye syndrome chromosome region, candidate 2							31	32	31					22																	18027870		1934	4130	6064	SO:0001583	missense	27443				chromatin modification|cytokinesis|cytoskeleton organization|DNA fragmentation involved in apoptotic nuclear change|vesicle-mediated transport		protein binding	g.chr22:18027870C>A	AF336133		22q11.2	2012-04-19			ENSG00000099954	ENSG00000099954			1840	protein-coding gene	gene with protein product		607576				11381032	Standard	XM_006724077		Approved	KIAA1740	uc002zml.2	Q9BXF3	OTTHUMG00000150072	ENST00000400585.2:c.2401C>A	22.37:g.18027870C>A	ENSP00000383428:p.Pro801Thr					CECR2_ENST00000400573.4_Missense_Mutation_p.P943T|CECR2_ENST00000400585.2_Missense_Mutation_p.P801T	p.P944T	NM_031413.3	NP_113601.2	Q9BXF3	CECR2_HUMAN		Lung(27;0.146)	16	2830	+		all_epithelial(15;0.139)	985					A8MS90|A8MX16|Q658Z4|Q96P58|Q9C0C3	Missense_Mutation	SNP	ENST00000400585.2	37	c.2830C>A		.	.	.	.	.	.	.	.	.	.	C	1.488	-0.555534	0.03967	.	.	ENSG00000099954	ENST00000400585;ENST00000400573;ENST00000262608	T;T;T	0.26223	1.87;1.87;1.75	4.13	-2.62	0.06152	.	1.172050	0.06586	N	0.751173	T	0.23289	0.0563	L	0.36672	1.1	0.09310	N	1	B;B;B	0.17038	0.02;0.02;0.02	B;B;B	0.16722	0.016;0.016;0.016	T	0.34650	-0.9820	10	0.29301	T	0.29	0.1646	17.2433	0.87021	0.0:0.5768:0.4232:0.0	.	985;801;943	Q9BXF3;B7WPH3;E2QRE6	CECR2_HUMAN;.;.	T	801;943;944	ENSP00000383428:P801T;ENSP00000383417:P943T;ENSP00000262608:P944T	ENSP00000262608:P944T	P	+	1	0	CECR2	16407870	0.049000	0.20398	0.022000	0.16811	0.006000	0.05464	0.079000	0.14782	-0.422000	0.07405	-0.384000	0.06662	CCA		0.473	CECR2-002	NOVEL	basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000316226.2	NM_031413		3	5	1	0	0.115264	1	0.119697	3	5					A	18027870	C	A	18027870	3	1	421	1	0	0	0	0	1	0	0	0	3206	507	18	5	2891	5	CECR2	22	18027870	Missense_Mutation	SNP	C	TCGA-VP-AA1N-01A-31D-A41K-08		18027870	33276696	38	20403											
KLHL22	84861	broad.mit.edu	37	chr22	20800756	20800756	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacgtccctcctgtatccggCatcgttgttgctgcccccga	4	11	9	17	4	0	0	0	0	0	0	4	1	3	0	5	1	2	5	5	1	1	3			TCGA-VP-AA1N-01A-31D-A41K-08	TCGA-VP-AA1N-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdd3c350-9cd0-45f3-a822-6174c4edfba0	df551c39-d578-49ea-8e80-24c14dbb340d	g.chr22:20800756C>T	ENST00000328879.4	-	6	1669	c.1513G>A	c.(1513-1515)Gcc>Acc	p.A505T	KLHL22_ENST00000440659.2_Missense_Mutation_p.A362T	NM_032775.3	NP_116164.2	Q53GT1	KLH22_HUMAN	kelch-like family member 22	505					cell division (GO:0051301)|mitotic sister chromatid segregation (GO:0000070)|mitotic spindle assembly checkpoint (GO:0007094)|protein monoubiquitination (GO:0006513)	centrosome (GO:0005813)|Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|mitotic spindle (GO:0072686)|polar microtubule (GO:0005827)				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|skin(2)|upper_aerodigestive_tract(1)	20	Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)			CTGTATCCGGCATCGTTGTTG	0.592																																						ENST00000328879.4																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|skin(2)|upper_aerodigestive_tract(1)	20						c.(1513-1515)Gcc>Acc		kelch-like family member 22							75	63	67					22																	20800756		2203	4300	6503	SO:0001583	missense	84861				cell division	Cul3-RING ubiquitin ligase complex		g.chr22:20800756C>T		CCDS13780.1	22q11.21	2013-01-30	2013-01-30		ENSG00000099910	ENSG00000099910		"Kelch-like", "BTB/POZ domain containing"	25888	protein-coding gene	gene with protein product			"kelch-like 22 (Drosophila)"			12477932	Standard	NM_032775		Approved	FLJ14360, KELCHL	uc002zsl.2	Q53GT1	OTTHUMG00000150778	ENST00000328879.4:c.1513G>A	22.37:g.20800756C>T	ENSP00000331682:p.Ala505Thr					KLHL22_ENST00000440659.2_Missense_Mutation_p.A362T	p.A505T	NM_032775.3	NP_116164.2	Q53GT1	KLH22_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)		6	1669	-	Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	505					A8K3Q4|A8MTV3|B7Z2G1|D3DX30|Q96B68|Q96KC6	Missense_Mutation	SNP	ENST00000328879.4	37	c.1513G>A	CCDS13780.1	.	.	.	.	.	.	.	.	.	.	C	4.111	0.018643	0.07959	.	.	ENSG00000099910	ENST00000328879;ENST00000440659	T;T	0.65732	-0.17;-0.17	5.43	4.34	0.51931	Kelch-type beta propeller (1);	0.590677	0.18530	N	0.138540	T	0.40839	0.1133	N	0.12831	0.26	0.09310	N	1	B	0.15141	0.012	B	0.14578	0.011	T	0.05402	-1.0887	10	0.07325	T	0.83	.	14.4854	0.67614	0.157:0.843:0.0:0.0	.	505	Q53GT1	KLH22_HUMAN	T	505;362	ENSP00000331682:A505T;ENSP00000405521:A362T	ENSP00000331682:A505T	A	-	1	0	KLHL22	19130756	0.108000	0.22018	0.418000	0.26571	0.958000	0.62258	1.265000	0.33027	2.571000	0.86741	0.563000	0.77884	GCC		0.592	KLHL22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320045.2	NM_032775		11	14	0	0	0	1	0	11	14					T	20800756	C	T	20800756	3	4	421	1	0	0	0	0	1	0	0	0	8377	710	25	3	399	3	KLHL22	22	20800756	Missense_Mutation	SNP	C	TCGA-VP-AA1N-01A-31D-A41K-08	2772886	20800756	30503810	39	20404											
SDF2L1	23753	broad.mit.edu	37	chr22	21998284	21998284	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	cgtgaggctgctgtgcgcttCcagcatgtgggcacctctgt	4	11	14	12	2	1	1	0	1	1	0	2	1	2	1	2	2	3	5	2	2	0	1			TCGA-VP-AA1N-01A-31D-A41K-08	TCGA-VP-AA1N-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdd3c350-9cd0-45f3-a822-6174c4edfba0	df551c39-d578-49ea-8e80-24c14dbb340d	g.chr22:21998284C>G	ENST00000248958.4	+	3	562	c.486C>G	c.(484-486)ttC>ttG	p.F162L	KB-1440D3.14_ENST00000609038.1_lincRNA	NM_022044.2	NP_071327.2	Q9HCN8	SDF2L_HUMAN	stromal cell-derived factor 2-like 1	162	MIR 3. {ECO:0000255|PROSITE- ProRule:PRU00131}.			F -> L (in Ref. 1; BAB18277). {ECO:0000305}.		endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)				prostate(1)	1	Colorectal(54;0.105)					CTGTGCGCTTCCAGCATGTGG	0.627											OREG0026342	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000248958.4																			0				prostate(1)	1						c.(484-486)ttC>ttG		stromal cell-derived factor 2-like 1							107	74	85					22																	21998284		2203	4300	6503	SO:0001583	missense	23753					endoplasmic reticulum lumen|membrane		g.chr22:21998284C>G		CCDS13792.1	22q11.21	2008-07-01			ENSG00000128228	ENSG00000128228			10676	protein-coding gene	gene with protein product	"dihydropyrimidinase-like 2", "PWP1-interacting protein 8"	607551				10591208, 11162531	Standard	NM_022044		Approved	AP000553.C22.4, OTTHUMT00000075032	uc002zvf.3	Q9HCN8	OTTHUMG00000150820	ENST00000248958.4:c.486C>G	22.37:g.21998284C>G	ENSP00000248958:p.Phe162Leu		OREG0026342	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	752		p.F162L	NM_022044.2	NP_071327.2	Q9HCN8	SDF2L_HUMAN			3	562	+	Colorectal(54;0.105)		162	F -> L (in Ref. 1; BAB18277).		MIR 3.		A2RUD3|Q9BRI5	Missense_Mutation	SNP	ENST00000248958.4	37	c.486C>G	CCDS13792.1	.	.	.	.	.	.	.	.	.	.	C	11.75	1.730612	0.30684	.	.	ENSG00000128228	ENST00000248958	T	0.74842	-0.88	4.6	3.59	0.41128	MIR motif (2);MIR (2);	0.000000	0.85682	D	0.000000	T	0.59059	0.2166	N	0.24115	0.695	0.58432	D	0.999998	B	0.33073	0.396	B	0.40256	0.324	T	0.54159	-0.8335	10	0.02654	T	1	-17.9451	10.5107	0.44860	0.0:0.9047:0.0:0.0953	.	162	Q9HCN8	SDF2L_HUMAN	L	162	ENSP00000248958:F162L	ENSP00000248958:F162L	F	+	3	2	SDF2L1	20328284	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	4.482000	0.60257	1.168000	0.42723	0.485000	0.47835	TTC		0.627	SDF2L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320197.1	NM_022044		3	20	0	0	0	1	0	3	20					G	21998284	C	G	21998284	3	3	421	1	0	0	0	0	1	0	0	0	13961	854	30	5	496	5	SDF2L1	22	21998284	Missense_Mutation	SNP	C	TCGA-VP-AA1N-01A-31D-A41K-08	1197528	21998284	29306282	40	20405											
ZMYM3	9203	broad.mit.edu	37	chrX	70465321	70465322	+	Frame_Shift_Del	DEL	GG	GG	-																															caggagtccctctgcactctGgttgctcacaagatctggga																										TCGA-VP-AA1N-01A-31D-A41K-08	TCGA-VP-AA1N-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdd3c350-9cd0-45f3-a822-6174c4edfba0	df551c39-d578-49ea-8e80-24c14dbb340d	g.chrX:70465321_70465322delGG	ENST00000353904.2	-	18	3061_3062	c.2874_2875delCC	c.(2872-2877)aaccagfs	p.NQ958fs	ZMYM3_ENST00000489332.1_5'UTR|ZMYM3_ENST00000314425.5_Frame_Shift_Del_p.NQ958fs|ZMYM3_ENST00000373984.3_Frame_Shift_Del_p.NQ960fs|ZMYM3_ENST00000373988.1_Frame_Shift_Del_p.NQ960fs|ZMYM3_ENST00000373998.1_Frame_Shift_Del_p.NQ946fs	NM_005096.3	NP_005087.1	Q14202	ZMYM3_HUMAN	zinc finger, MYM-type 3	958					cytoskeleton organization (GO:0007010)|multicellular organismal development (GO:0007275)|regulation of cell morphogenesis (GO:0022604)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(7)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(17)|ovary(1)|prostate(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(35;0.156)					TCTGCACTCTGGTTGCTCACAA	0.545																																						ENST00000373998.1																			0				breast(1)|central_nervous_system(7)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(17)|ovary(1)|prostate(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						c.(2836-2841)aaagfs		zinc finger, MYM-type 3																																				SO:0001589	frameshift_variant	9203				multicellular organismal development	nucleus	DNA binding|zinc ion binding	g.chrX:70465321_70465322delGG	AB002383	CCDS14409.1, CCDS55443.1, CCDS55444.1	Xq13.1	2013-01-08	2005-12-19	2005-12-19	ENSG00000147130	ENSG00000147130		"Zinc fingers, MYM type"	13054	protein-coding gene	gene with protein product		300061	"zinc finger protein 261"	ZNF261		10486218	Standard	NM_201599		Approved	ZNF198L2, DXS6673E, KIAA0385, MYM	uc004dzh.2	Q14202	OTTHUMG00000021799	ENST00000353904.2:c.2874_2875delCC	X.37:g.70465321_70465322delGG	ENSP00000343909:p.Asn958fs					ZMYM3_ENST00000489332.1_5'UTR|ZMYM3_ENST00000353904.2_Frame_Shift_Del_p.NQ958fs|ZMYM3_ENST00000314425.5_Frame_Shift_Del_p.NQ958fs|ZMYM3_ENST00000373984.3_Frame_Shift_Del_p.NQ960fs|ZMYM3_ENST00000373988.1_Frame_Shift_Del_p.NQ960fs	p.NQ946fs	NM_001171162.1	NP_001164633.1	Q14202	ZMYM3_HUMAN			18	3535_3536	-	Renal(35;0.156)		958					D3DVV3|O15089|Q96E26	Frame_Shift_Del	DEL	ENST00000353904.2	37	c.2838_2839delCC	CCDS14409.1																																																																																				0.545	ZMYM3-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000057154.1	NM_201599		4	5						4	5	---	---	---	---	-	70465322	GG	-	70465321	7	5	421	1	0	1	0	1	0	0	0	0	17698	1357	47	0	1269	0	ZMYM3	23	70465321	Frame_Shift_Del	DEL	GG	TCGA-VP-AA1N-01A-31D-A41K-08		70465321	84805239	41	20406											
AJAP1	55966	broad.mit.edu	37	chr1	4772618	4772618	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaccacggccacccccatgAcgctgcagactaaggggttc	9	5	10	17	2	0	2	0	1	0	1	1	2	0	2	5	3	1	3	5	3	1	2			TCGA-WW-A8ZI-01A-11D-A377-08	TCGA-WW-A8ZI-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f032fb5f-6499-4cd4-82c5-fec6bdb5caad	e4ae4cc7-3295-4d4c-a51b-d65f5ad626d6	g.chr1:4772618A>G	ENST00000378191.4	+	2	1069	c.688A>G	c.(688-690)Acg>Gcg	p.T230A	AJAP1_ENST00000378190.3_Missense_Mutation_p.T230A	NM_018836.3	NP_061324.1	Q9UKB5	AJAP1_HUMAN	adherens junctions associated protein 1	230	Thr-rich.				cell adhesion (GO:0007155)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|urinary_tract(1)	24	all_cancers(77;0.071)|Ovarian(185;0.0721)	all_cancers(23;1.77e-36)|all_epithelial(116;1.26e-21)|all_lung(118;3.51e-08)|Lung NSC(185;3.47e-06)|all_neural(13;8.84e-06)|all_hematologic(16;7.61e-05)|Breast(487;0.000507)|Renal(390;0.0007)|Colorectal(325;0.00117)|Hepatocellular(190;0.0071)|Glioma(11;0.0155)|Myeloproliferative disorder(586;0.0258)|Ovarian(437;0.0409)|Lung SC(97;0.133)|Medulloblastoma(700;0.215)		Epithelial(90;3.89e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.97e-19)|GBM - Glioblastoma multiforme(42;3.71e-19)|Colorectal(212;4.57e-06)|COAD - Colon adenocarcinoma(227;0.00019)|Kidney(185;0.000969)|BRCA - Breast invasive adenocarcinoma(365;0.00122)|STAD - Stomach adenocarcinoma(132;0.00578)|KIRC - Kidney renal clear cell carcinoma(229;0.0126)|READ - Rectum adenocarcinoma(331;0.0689)		cacccccaTGACGCTGCAGAC	0.617																																						ENST00000378191.4																			0				endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|urinary_tract(1)	24						c.(688-690)Acg>Gcg		adherens junctions associated protein 1							38	38	38					1																	4772618		2202	4299	6501	SO:0001583	missense	55966				cell adhesion	adherens junction|apical plasma membrane|basolateral plasma membrane|integral to membrane		g.chr1:4772618A>G	AF175409	CCDS54.1	1p36.32	2008-02-05	2008-01-08		ENSG00000196581	ENSG00000196581			30801	protein-coding gene	gene with protein product	"transmembrane protein SHREW1"	610972				14595118	Standard	NM_001042478		Approved	SHREW1, SHREW-1, MOT8	uc001aln.3	Q9UKB5	OTTHUMG00000000645	ENST00000378191.4:c.688A>G	1.37:g.4772618A>G	ENSP00000367433:p.Thr230Ala					AJAP1_ENST00000378190.3_Missense_Mutation_p.T230A	p.T230A	NM_018836.3	NP_061324.1	Q9UKB5	AJAP1_HUMAN		Epithelial(90;3.89e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.97e-19)|GBM - Glioblastoma multiforme(42;3.71e-19)|Colorectal(212;4.57e-06)|COAD - Colon adenocarcinoma(227;0.00019)|Kidney(185;0.000969)|BRCA - Breast invasive adenocarcinoma(365;0.00122)|STAD - Stomach adenocarcinoma(132;0.00578)|KIRC - Kidney renal clear cell carcinoma(229;0.0126)|READ - Rectum adenocarcinoma(331;0.0689)	2	1069	+	all_cancers(77;0.071)|Ovarian(185;0.0721)	all_cancers(23;1.77e-36)|all_epithelial(116;1.26e-21)|all_lung(118;3.51e-08)|Lung NSC(185;3.47e-06)|all_neural(13;8.84e-06)|all_hematologic(16;7.61e-05)|Breast(487;0.000507)|Renal(390;0.0007)|Colorectal(325;0.00117)|Hepatocellular(190;0.0071)|Glioma(11;0.0155)|Myeloproliferative disorder(586;0.0258)|Ovarian(437;0.0409)|Lung SC(97;0.133)|Medulloblastoma(700;0.215)	230			Thr-rich.		Q9Y229	Missense_Mutation	SNP	ENST00000378191.4	37	c.688A>G	CCDS54.1	.	.	.	.	.	.	.	.	.	.	A	5.603	0.295997	0.10622	.	.	ENSG00000196581	ENST00000378190;ENST00000378191	T;T	0.56941	0.43;0.43	5.35	-0.175	0.13315	.	0.255013	0.30809	N	0.008838	T	0.29684	0.0741	L	0.27053	0.805	0.20638	N	0.999874	B	0.14805	0.011	B	0.18263	0.021	T	0.06789	-1.0807	10	0.33940	T	0.23	-6.7891	1.596	0.02664	0.4819:0.1484:0.0832:0.2864	.	230	Q9UKB5	AJAP1_HUMAN	A	230	ENSP00000367432:T230A;ENSP00000367433:T230A	ENSP00000367432:T230A	T	+	1	0	AJAP1	4672478	0.977000	0.34250	0.060000	0.19600	0.840000	0.47671	2.464000	0.45067	0.005000	0.14708	0.383000	0.25322	ACG		0.617	AJAP1-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001542.3	NM_018836		23	13	0	0	0	1	0	23	13					G	4772618	A	G	4772618	3	3	422	1	0	0	0	0	1	0	0	0	438	275	10	4	694	4	AJAP1	1	4772618	Missense_Mutation	SNP	A	TCGA-WW-A8ZI-01A-11D-A377-08		4772618	244478003	1	20407											
TAS1R2	80834	broad.mit.edu	37	chr1	19166493	19166493	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tggggtcatcggggtcagtaCgggtggtgggactgaggccc	5	8	20	8	2	2	1	2	1	0	0	3	2	2	2	1	8	1	1	1	8	1	1			TCGA-WW-A8ZI-01A-11D-A377-08	TCGA-WW-A8ZI-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f032fb5f-6499-4cd4-82c5-fec6bdb5caad	e4ae4cc7-3295-4d4c-a51b-d65f5ad626d6	g.chr1:19166493C>T	ENST00000375371.3	-	6	2141	c.2120G>A	c.(2119-2121)cGt>cAt	p.R707H		NM_152232.2	NP_689418.2	Q8TE23	TS1R2_HUMAN	taste receptor, type 1, member 2	707					detection of chemical stimulus involved in sensory perception of sweet taste (GO:0001582)|G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cytokinesis (GO:0032467)|sensory perception of sweet taste (GO:0050916)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	protein heterodimerization activity (GO:0046982)|taste receptor activity (GO:0008527)	p.R707H(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(10)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(3)|stomach(1)	45		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;3.56e-05)|Kidney(64;0.000177)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	Aspartame(DB00168)	GGGGTCAGTACGGGTGGTGGG	0.557																																						ENST00000375371.3																			1	Substitution - Missense(1)	p.R707H(1)	ovary(1)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(10)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(3)|stomach(1)	45						c.(2119-2121)cGt>cAt		taste receptor, type 1, member 2	Aspartame(DB00168)						128	135	133					1																	19166493		2203	4300	6503	SO:0001583	missense	80834				detection of chemical stimulus involved in sensory perception of sweet taste	plasma membrane	protein heterodimerization activity|taste receptor activity	g.chr1:19166493C>T		CCDS187.1	1p36.13	2012-08-22	2003-03-07		ENSG00000179002	ENSG00000179002		"Taste receptors / Type 1", "GPCR / Unclassified : Taste receptors"	14905	protein-coding gene	gene with protein product		606226	"G protein-coupled receptor 71"	GPR71			Standard	NM_152232		Approved	T1R2, TR2	uc001bba.1	Q8TE23	OTTHUMG00000002442	ENST00000375371.3:c.2120G>A	1.37:g.19166493C>T	ENSP00000364520:p.Arg707His						p.R707H	NM_152232.2	NP_689418.2	Q8TE23	TS1R2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;3.56e-05)|Kidney(64;0.000177)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	6	2141	-		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)	707					Q5TZ19	Missense_Mutation	SNP	ENST00000375371.3	37	c.2120G>A	CCDS187.1	.	.	.	.	.	.	.	.	.	.	C	7.323	0.617457	0.14129	.	.	ENSG00000179002	ENST00000375371	D	0.88664	-2.41	4.94	0.504	0.16946	GPCR, family 3, C-terminal (2);	0.155508	0.29707	N	0.011419	T	0.79805	0.4509	L	0.35288	1.05	0.09310	N	0.999999	B	0.21520	0.057	B	0.22601	0.04	T	0.68838	-0.5303	10	0.59425	D	0.04	.	5.422	0.16405	0.2923:0.5531:0.0:0.1546	.	707	Q8TE23	TS1R2_HUMAN	H	707	ENSP00000364520:R707H	ENSP00000364520:R707H	R	-	2	0	TAS1R2	19039080	0.000000	0.05858	0.133000	0.22050	0.119000	0.20118	0.205000	0.17356	0.095000	0.17434	0.561000	0.74099	CGT		0.557	TAS1R2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000006953.1			20	97	0	0	0	1	0	20	97					T	19166493	C	T	19166493	3	4	422	1	0	0	0	0	1	0	0	0	15560	536	19	1	403	1	TAS1R2	1	19166493	Missense_Mutation	SNP	C	TCGA-WW-A8ZI-01A-11D-A377-08	14393875	19166493	230084128	2	20408											
METTL13	51603	broad.mit.edu	37	chr1	171761209	171761209	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggcgggggcagcctccccctCtttgtccacgatcattttcc	4	11	10	16	2	2	0	1	0	1	0	5	1	5	0	5	3	1	1	5	3	0	3			TCGA-WW-A8ZI-01A-11D-A377-08	TCGA-WW-A8ZI-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f032fb5f-6499-4cd4-82c5-fec6bdb5caad	e4ae4cc7-3295-4d4c-a51b-d65f5ad626d6	g.chr1:171761209C>T	ENST00000361735.3	+	6	1793	c.1527C>T	c.(1525-1527)ctC>ctT	p.L509L	METTL13_ENST00000362019.3_Silent_p.L423L|METTL13_ENST00000367737.5_Silent_p.L353L|METTL13_ENST00000458517.1_Silent_p.L508L|METTL13_ENST00000466643.1_3'UTR	NM_015935.4	NP_057019.3	Q8N6R0	MET13_HUMAN	methyltransferase like 13	509							methyltransferase activity (GO:0008168)			breast(3)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(8)|lung(17)|stomach(3)	41						GCCTCCCCCTCTTTGTCCACG	0.527																																						ENST00000361735.3																			0				breast(3)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(8)|lung(17)|stomach(3)	41						c.(1525-1527)ctC>ctT		methyltransferase like 13							132	119	123					1																	171761209		2203	4300	6503	SO:0001819	synonymous_variant	51603						methyltransferase activity|protein binding	g.chr1:171761209C>T	AF132936	CCDS1299.1, CCDS1300.1, CCDS30936.1	1q24-q25.3	2009-02-23	2009-02-23	2009-02-23	ENSG00000010165	ENSG00000010165			24248	protein-coding gene	gene with protein product			"KIAA0859"	KIAA0859		10810093, 10048485	Standard	NM_001007239		Approved	CGI-01	uc001ghz.3	Q8N6R0	OTTHUMG00000034912	ENST00000361735.3:c.1527C>T	1.37:g.171761209C>T						METTL13_ENST00000458517.1_Silent_p.L508L|METTL13_ENST00000362019.3_Silent_p.L423L|METTL13_ENST00000466643.1_3'UTR|METTL13_ENST00000367737.5_Silent_p.L353L	p.L509L	NM_015935.4	NP_057019.3	Q8N6R0	MTL13_HUMAN			6	1793	+			509					A6NFK0|A8K6S5|O94940|Q53EZ6|Q5TGP9|Q5TGQ0|Q8N2P8|Q96J11|Q96SQ0|Q9Y2Z1|Q9Y3M6	Silent	SNP	ENST00000361735.3	37	c.1527C>T	CCDS1299.1																																																																																				0.527	METTL13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084528.5	NM_014955		48	70	0	0	0	1	0	48	70					T	171761209	C	T	171761209	2	4	422	1	0	0	0	0	0	0	0	1	9497	900	32	3		3	METTL13	1	171761209	Silent	SNP	C	TCGA-WW-A8ZI-01A-11D-A377-08	152594716	171761209	77489412	3	20409											
INO80B	83444	broad.mit.edu	37	chr2	74683262	74683262	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atctctctccctctccacttCgggacctatcaggagggtta	7	12	8	14	1	4	0	1	0	3	0	8	2	4	2	3	3	0	1	3	3	2	3			TCGA-WW-A8ZI-01A-11D-A377-08	TCGA-WW-A8ZI-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f032fb5f-6499-4cd4-82c5-fec6bdb5caad	e4ae4cc7-3295-4d4c-a51b-d65f5ad626d6	g.chr2:74683262C>T	ENST00000233331.7	+	4	497	c.403C>T	c.(403-405)Cgg>Tgg	p.R135W	INO80B_ENST00000469849.1_3'UTR|WBP1_ENST00000409737.1_5'Flank|INO80B_ENST00000409917.1_Missense_Mutation_p.R135W|WBP1_ENST00000393972.3_5'Flank|WBP1_ENST00000233615.2_5'Flank	NM_031288.3	NP_112578.2	Q9C086	IN80B_HUMAN	INO80 complex subunit B	135					chromatin remodeling (GO:0006338)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|Ino80 complex (GO:0031011)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)			endometrium(1)|large_intestine(2)|lung(5)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	13						CTCTCCACTTCGGGACCTATC	0.512																																						ENST00000233331.7																			0				endometrium(1)|large_intestine(2)|lung(5)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	13						c.(403-405)Cgg>Tgg		INO80 complex subunit B							71	72	72					2																	74683262		2203	4300	6503	SO:0001583	missense	83444				DNA recombination|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Ino80 complex|nucleolus	metal ion binding|protein binding	g.chr2:74683262C>T	AB054538	CCDS1942.2	2p13.1	2011-07-06	2008-08-07	2008-08-07	ENSG00000115274	ENSG00000115274		"Zinc fingers, HIT-type", "INO80 complex subunits"	13324	protein-coding gene	gene with protein product	"PAP-1 binding protein", "IES2 homolog (S. cerevisiae)"		"high mobility group AT-hook 1-like 4", "zinc finger, HIT type 4"	HMGA1L4, ZNHIT4		16230350	Standard	NM_031288		Approved	HMGIYL4, PAPA-1, hIes2, PAP-1BP, IES2	uc002slg.3	Q9C086	OTTHUMG00000129959	ENST00000233331.7:c.403C>T	2.37:g.74683262C>T	ENSP00000233331:p.Arg135Trp					INO80B_ENST00000409917.1_Missense_Mutation_p.R135W|INO80B_ENST00000469849.1_3'UTR	p.R135W	NM_031288.3	NP_112578.2	Q9C086	IN80B_HUMAN			4	497	+			135						Missense_Mutation	SNP	ENST00000233331.7	37	c.403C>T	CCDS1942.2	.	.	.	.	.	.	.	.	.	.	C	17.93	3.509316	0.64522	.	.	ENSG00000115274	ENST00000233331;ENST00000409917;ENST00000409493	T;T;T	0.49139	0.79;0.8;0.81	5.66	4.74	0.60224	.	0.239066	0.43416	D	0.000564	T	0.37320	0.0999	N	0.22421	0.69	0.34574	D	0.71369	D;D;D	0.60575	0.978;0.988;0.963	B;B;P	0.44561	0.306;0.265;0.453	T	0.55250	-0.8170	10	0.66056	D	0.02	-15.0767	13.4108	0.60942	0.0:0.8285:0.1715:0.0	.	153;135;135	B4DJ31;Q9C086;B8ZZ93	.;IN80B_HUMAN;.	W	135;135;140	ENSP00000233331:R135W;ENSP00000387267:R135W;ENSP00000386937:R140W	ENSP00000233331:R135W	R	+	1	2	INO80B	74536770	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	5.061000	0.64319	2.670000	0.90874	0.561000	0.74099	CGG		0.512	INO80B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252223.2	NM_031288		33	39	0	0	0	1	0	33	39					T	74683262	C	T	74683262	3	4	422	1	0	0	0	0	1	0	0	0	7747	875	31	2	417	2	INO80B	2	74683262	Missense_Mutation	SNP	C	TCGA-WW-A8ZI-01A-11D-A377-08		74683262	168516111	4	20410											
IL1B	3553	broad.mit.edu	37	chr2	113593795	113593795	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atttcactggcgagctcaggTacttctgccatggctgcttc	6	13	10	12	1	3	0	2	0	1	0	4	1	3	0	1	3	4	4	1	3	1	4			TCGA-WW-A8ZI-01A-11D-A377-08	TCGA-WW-A8ZI-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f032fb5f-6499-4cd4-82c5-fec6bdb5caad	e4ae4cc7-3295-4d4c-a51b-d65f5ad626d6	g.chr2:113593795T>C	ENST00000263341.2	-	2	222	c.12A>G	c.(10-12)gtA>gtG	p.V4V	IL1B_ENST00000491056.1_5'UTR	NM_000576.2	NP_000567.1	P01584	IL1B_HUMAN	interleukin 1, beta	4					activation of MAPK activity (GO:0000187)|apoptotic process (GO:0006915)|cell-cell signaling (GO:0007267)|cellular response to drug (GO:0035690)|cellular response to mechanical stimulus (GO:0071260)|cellular response to organic cyclic compound (GO:0071407)|cellular response to organic substance (GO:0071310)|cytokine-mediated signaling pathway (GO:0019221)|ectopic germ cell programmed cell death (GO:0035234)|embryo implantation (GO:0007566)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|fever generation (GO:0001660)|hyaluronan biosynthetic process (GO:0030213)|immune response (GO:0006955)|inflammatory response (GO:0006954)|interleukin-1 beta production (GO:0032611)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|MAPK cascade (GO:0000165)|monocyte aggregation (GO:0070487)|negative regulation of adiponectin secretion (GO:0070164)|negative regulation of cell proliferation (GO:0008285)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of glucose transport (GO:0010829)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of lipid catabolic process (GO:0050995)|negative regulation of lipid metabolic process (GO:0045833)|negative regulation of MAP kinase activity (GO:0043407)|neutrophil chemotaxis (GO:0030593)|positive regulation of angiogenesis (GO:0045766)|positive regulation of calcidiol 1-monooxygenase activity (GO:0060559)|positive regulation of cell adhesion molecule production (GO:0060355)|positive regulation of cell division (GO:0051781)|positive regulation of chemokine biosynthetic process (GO:0045080)|positive regulation of fever generation (GO:0031622)|positive regulation of gene expression (GO:0010628)|positive regulation of granulocyte macrophage colony-stimulating factor production (GO:0032725)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of histone acetylation (GO:0035066)|positive regulation of histone phosphorylation (GO:0033129)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of interleukin-6 biosynthetic process (GO:0045410)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of JNK cascade (GO:0046330)|positive regulation of lipid catabolic process (GO:0050996)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|positive regulation of mitosis (GO:0045840)|positive regulation of monocyte chemotactic protein-1 production (GO:0071639)|positive regulation of myosin light chain kinase activity (GO:0035505)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of prostaglandin secretion (GO:0032308)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of T cell mediated immunity (GO:0002711)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|positive regulation vascular endothelial growth factor production (GO:0010575)|protein kinase B signaling (GO:0043491)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of insulin secretion (GO:0050796)|response to ATP (GO:0033198)|response to carbohydrate (GO:0009743)|sequestering of triglyceride (GO:0030730)|signal transduction (GO:0007165)|smooth muscle adaptation (GO:0014805)	cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|secretory granule (GO:0030141)	cytokine activity (GO:0005125)|interleukin-1 receptor binding (GO:0005149)|protein domain specific binding (GO:0019904)			breast(2)|central_nervous_system(1)|large_intestine(1)|lung(8)	12					Canakinumab(DB06168)|Gallium nitrate(DB05260)|Minocycline(DB01017)|Rilonacept(DB06372)	CGAGCTCAGGTACTTCTGCCA	0.473																																						ENST00000263341.2																			0				breast(2)|central_nervous_system(1)|large_intestine(1)|lung(8)	12						c.(10-12)gtA>gtG		interleukin 1, beta	Anakinra(DB00026)|Minocycline(DB01017)|Procaterol(DB01366)						106	92	97					2																	113593795		2203	4300	6503	SO:0001819	synonymous_variant	3553				activation of MAPK activity|anti-apoptosis|apoptosis|cell-cell signaling|cellular response to drug|cellular response to mechanical stimulus|cytokine-mediated signaling pathway|embryo implantation|fever generation|negative regulation of adiponectin secretion|negative regulation of cell proliferation|negative regulation of glucose transport|negative regulation of insulin receptor signaling pathway|negative regulation of lipid catabolic process|negative regulation of MAP kinase activity|positive regulation of angiogenesis|positive regulation of calcidiol 1-monooxygenase activity|positive regulation of cell adhesion molecule production|positive regulation of cell division|positive regulation of fever generation|positive regulation of granulocyte macrophage colony-stimulating factor production|positive regulation of heterotypic cell-cell adhesion|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of interferon-gamma production|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of lipid catabolic process|positive regulation of membrane protein ectodomain proteolysis|positive regulation of mitosis|positive regulation of monocyte chemotactic protein-1 production|positive regulation of myosin light chain kinase activity|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric oxide biosynthetic process|positive regulation of prostaglandin secretion|positive regulation of protein export from nucleus|positive regulation of T cell proliferation|positive regulation vascular endothelial growth factor production|regulation of insulin secretion|sequestering of triglyceride|smooth muscle adaptation	cytosol|extracellular space	cytokine activity|growth factor activity|interleukin-1 receptor binding|protein domain specific binding	g.chr2:113593795T>C	M15330	CCDS2102.1	2q14	2014-01-30			ENSG00000125538	ENSG00000125538		"Interleukins and interleukin receptors", "Endogenous ligands"	5992	protein-coding gene	gene with protein product		147720				2954882, 2989698	Standard	NM_000576		Approved	IL1F2, IL-1B, IL1-BETA	uc002tii.1	P01584	OTTHUMG00000131344	ENST00000263341.2:c.12A>G	2.37:g.113593795T>C						IL1B_ENST00000491056.1_5'UTR	p.V4V	NM_000576.2	NP_000567.1	P01584	IL1B_HUMAN			2	222	-			4					Q53X59|Q53XX2|Q7M4S7|Q7RU01|Q96HE5|Q9UCT6	Silent	SNP	ENST00000263341.2	37	c.12A>G	CCDS2102.1																																																																																				0.473	IL1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254125.2	NM_000576		41	54	0	0	0	1	0	41	54					C	113593795	T	C	113593795	2	2	422	1	0	0	0	0	0	0	0	1	7651	1625	57	4		4	IL1B	2	113593795	Silent	SNP	T	TCGA-WW-A8ZI-01A-11D-A377-08	38910533	113593795	129605578	5	20411											
THSD7B	80731	broad.mit.edu	37	chr2	138413129	138413129	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ttcctgcatggtccacagtgGttcaatatctcatgcagctg	8	13	9	11	0	2	0	2	0	1	0	5	0	4	0	2	2	3	4	2	2	2	3			TCGA-WW-A8ZI-01A-11D-A377-08	TCGA-WW-A8ZI-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f032fb5f-6499-4cd4-82c5-fec6bdb5caad	e4ae4cc7-3295-4d4c-a51b-d65f5ad626d6	g.chr2:138413129G>A	ENST00000409968.1	+	22	4182	c.4004G>A	c.(4003-4005)gGt>gAt	p.G1335D	THSD7B_ENST00000543459.1_Intron|THSD7B_ENST00000413152.2_Missense_Mutation_p.G1307D|THSD7B_ENST00000272643.3_Missense_Mutation_p.G1338D			Q9C0I4	THS7B_HUMAN	thrombospondin, type I, domain containing 7B	1337	TSP type-1 17. {ECO:0000255|PROSITE- ProRule:PRU00210}.					integral component of membrane (GO:0016021)				NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		GTCCACAGTGGTTCAATATCT	0.502																																						ENST00000409968.1																			0				NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134						c.(4003-4005)gGt>gAt		thrombospondin, type I, domain containing 7B							93	93	93					2																	138413129		2091	4230	6321	SO:0001583	missense	80731							g.chr2:138413129G>A			2q22.1	2006-11-24			ENSG00000144229	ENSG00000144229			29348	protein-coding gene	gene with protein product						11214970	Standard	NM_001080427		Approved	KIAA1679	uc002tva.1	Q9C0I4	OTTHUMG00000153590	ENST00000409968.1:c.4004G>A	2.37:g.138413129G>A	ENSP00000387145:p.Gly1335Asp					THSD7B_ENST00000543459.1_Intron|THSD7B_ENST00000413152.2_Missense_Mutation_p.G1307D|THSD7B_ENST00000272643.3_Missense_Mutation_p.G1338D	p.G1335D						BRCA - Breast invasive adenocarcinoma(221;0.19)	22	4182	+									Missense_Mutation	SNP	ENST00000409968.1	37	c.4004G>A		.	.	.	.	.	.	.	.	.	.	G	14.88	2.667190	0.47677	.	.	ENSG00000144229	ENST00000409968;ENST00000272643;ENST00000413152	T;T;T	0.61510	0.1;0.1;0.1	5.26	3.34	0.38264	.	0.229429	0.44285	D	0.000468	T	0.68778	0.3038	L	0.61218	1.895	0.80722	D	1	D	0.62365	0.991	P	0.61070	0.883	T	0.69694	-0.5076	10	0.35671	T	0.21	.	15.3785	0.74633	0.0:0.4025:0.5975:0.0	.	1307	C9JKN6	.	D	1335;1338;1307	ENSP00000387145:G1335D;ENSP00000272643:G1338D;ENSP00000413841:G1307D	ENSP00000272643:G1338D	G	+	2	0	THSD7B	138129599	1.000000	0.71417	0.768000	0.31515	0.276000	0.26787	3.222000	0.51223	1.407000	0.46875	0.650000	0.86243	GGT		0.502	THSD7B-001	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000331769.2	XM_046570.9		9	15	0	0	0	1	0	9	15					A	138413129	G	A	138413129	3	1	422	1	0	0	0	0	1	0	0	0	15877	1261	44	3	3998	3	THSD7B	2	138413129	Missense_Mutation	SNP	G	TCGA-WW-A8ZI-01A-11D-A377-08	24819334	138413129	104786244	6	20412											
COL5A2	1290	broad.mit.edu	37	chr2	189899824	189899824	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggcttcttttgataaaaggcGcaaaaaagtcatctgagtaa	15	11	9	6	1	3	2	1	2	2	0	3	2	3	2	0	2	0	3	0	2	6	5			TCGA-WW-A8ZI-01A-11D-A377-08	TCGA-WW-A8ZI-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f032fb5f-6499-4cd4-82c5-fec6bdb5caad	e4ae4cc7-3295-4d4c-a51b-d65f5ad626d6	g.chr2:189899824G>A	ENST00000374866.3	-	53	4445	c.4171C>T	c.(4171-4173)Cgc>Tgc	p.R1391C		NM_000393.3	NP_000384.2	P05997	CO5A2_HUMAN	collagen, type V, alpha 2	1391	Fibrillar collagen NC1. {ECO:0000255|PROSITE-ProRule:PRU00793}.				axon guidance (GO:0007411)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|eye morphogenesis (GO:0048592)|negative regulation of endodermal cell differentiation (GO:1903225)|skeletal system development (GO:0001501)|skin development (GO:0043588)	collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)	p.R1391C(1)		NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			GATAAAAGGCGCAAAAAAGTC	0.398																																						ENST00000374866.3																			1	Substitution - Missense(1)	p.R1391C(1)	lung(1)	NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95						c.(4171-4173)Cgc>Tgc		collagen, type V, alpha 2							103	101	102					2																	189899824		2203	4300	6503	SO:0001583	missense	1290				axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent	g.chr2:189899824G>A	Y14690	CCDS33350.1	2q14-q32	2014-09-17			ENSG00000204262	ENSG00000204262		"Collagens"	2210	protein-coding gene	gene with protein product	"AB collagen"	120190				1572660	Standard	NM_000393		Approved		uc002uqk.3	P05997	OTTHUMG00000149842	ENST00000374866.3:c.4171C>T	2.37:g.189899824G>A	ENSP00000364000:p.Arg1391Cys						p.R1391C	NM_000393.3	NP_000384.2	P05997	CO5A2_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)		53	4445	-			1391			Fibrillar collagen NC1.		P78440|Q13908|Q53WR4|Q59GR4|Q6LDJ5|Q7KZ55|Q86XF6|Q96QB0|Q96QB3	Missense_Mutation	SNP	ENST00000374866.3	37	c.4171C>T	CCDS33350.1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.327699	0.81690	.	.	ENSG00000204262	ENST00000374866;ENST00000452536	T	0.78707	-1.2	5.66	5.66	0.87406	Fibrillar collagen, C-terminal (4);	0.000000	0.49305	D	0.000155	D	0.91938	0.7447	H	0.94503	3.545	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	D	0.93502	0.6845	10	0.72032	D	0.01	.	19.7297	0.96177	0.0:0.0:1.0:0.0	.	1031;1391	Q5PR22;P05997	.;CO5A2_HUMAN	C	1391;1031	ENSP00000364000:R1391C	ENSP00000364000:R1391C	R	-	1	0	COL5A2	189608069	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	9.869000	0.99810	2.658000	0.90341	0.650000	0.86243	CGC		0.398	COL5A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313523.1	NM_000393		4	124	0	0	0	1	0	4	124					A	189899824	G	A	189899824	3	1	422	1	0	0	0	0	1	0	0	0	3697	1087	38	1	336	1	COL5A2	2	189899824	Missense_Mutation	SNP	G	TCGA-WW-A8ZI-01A-11D-A377-08	51486695	189899824	53299549	7	20413											
SCN10A	6336	broad.mit.edu	37	chr3	38763822	38763822	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgtgctccacgatacggtagCaagtcttgcgcacctgccag	8	9	11	13	3	1	0	0	0	1	0	2	1	2	0	3	1	5	4	3	1	3	3			TCGA-WW-A8ZI-01A-11D-A377-08	TCGA-WW-A8ZI-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f032fb5f-6499-4cd4-82c5-fec6bdb5caad	e4ae4cc7-3295-4d4c-a51b-d65f5ad626d6	g.chr3:38763822C>A	ENST00000449082.2	-	19	3433	c.3434G>T	c.(3433-3435)tGc>tTc	p.C1145F		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	1145					AV node cell to bundle of His cell communication (GO:0086067)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of cardiac muscle contraction (GO:0055117)|regulation of heart rate (GO:0002027)|regulation of ion transmembrane transport (GO:0034765)|sensory perception (GO:0007600)|sensory perception of pain (GO:0019233)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	C-fiber (GO:0044299)|extracellular vesicular exosome (GO:0070062)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cinchocaine(DB00527)|Cocaine(DB00907)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Lacosamide(DB06218)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Orphenadrine(DB01173)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)|Valproic Acid(DB00313)	GATACGGTAGCAAGTCTTGCG	0.567																																						ENST00000449082.2																			0				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150						c.(3433-3435)tGc>tTc		sodium channel, voltage-gated, type X, alpha subunit	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)						167	137	148					3																	38763822		2203	4300	6503	SO:0001583	missense	6336				sensory perception	voltage-gated sodium channel complex		g.chr3:38763822C>A	AF117907	CCDS33736.1	3p22.2	2012-02-26	2007-01-23		ENSG00000185313	ENSG00000185313		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10582	protein-coding gene	gene with protein product		604427	"sodium channel, voltage-gated, type X, alpha polypeptide"			9839820, 10198179, 16382098	Standard	NM_006514		Approved	Nav1.8, hPN3, SNS, PN3	uc003ciq.3	Q9Y5Y9	OTTHUMG00000048245	ENST00000449082.2:c.3434G>T	3.37:g.38763822C>A	ENSP00000390600:p.Cys1145Phe						p.C1145F	NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	19	3433	-			1145					A6NDQ1	Missense_Mutation	SNP	ENST00000449082.2	37	c.3434G>T	CCDS33736.1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.290289	0.80914	.	.	ENSG00000185313	ENST00000449082	D	0.88586	-2.4	4.27	4.27	0.50696	Sodium ion transport-associated (1);	0.000000	0.85682	D	0.000000	D	0.95017	0.8387	M	0.87617	2.895	0.58432	D	0.999991	D	0.89917	1.0	D	0.91635	0.999	D	0.96021	0.9009	10	0.87932	D	0	.	16.8955	0.86099	0.0:1.0:0.0:0.0	.	1145	Q9Y5Y9	SCNAA_HUMAN	F	1145	ENSP00000390600:C1145F	ENSP00000390600:C1145F	C	-	2	0	SCN10A	38738826	1.000000	0.71417	1.000000	0.80357	0.919000	0.55068	7.651000	0.83577	2.221000	0.72209	0.561000	0.74099	TGC		0.567	SCN10A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109745.3	NM_006514		43	57	1	0	3.43241e-23	1	3.5985e-23	43	57					A	38763822	C	A	38763822	3	1	422	1	0	0	0	0	1	0	0	0	13912	710	25	5	2472	5	SCN10A	3	38763822	Missense_Mutation	SNP	C	TCGA-WW-A8ZI-01A-11D-A377-08		38763822	159258608	8	20414											
ATP13A3	79572	broad.mit.edu	37	chr3	194146084	194146084	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aacttacaatttttgtagcaAggttgcctgaagggttttcc	10	15	9	7	0	0	1	0	1	0	0	1	1	1	1	2	2	4	4	2	2	6	7			TCGA-WW-A8ZI-01A-11D-A377-08	TCGA-WW-A8ZI-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f032fb5f-6499-4cd4-82c5-fec6bdb5caad	e4ae4cc7-3295-4d4c-a51b-d65f5ad626d6	g.chr3:194146084A>G	ENST00000439040.1	-	30	4091	c.3300T>C	c.(3298-3300)ccT>ccC	p.P1100P	ATP13A3_ENST00000256031.4_Silent_p.P1100P			Q9H7F0	AT133_HUMAN	ATPase type 13A3	1100						integral component of membrane (GO:0016021)|membrane (GO:0016020)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)			NS(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	24	all_cancers(143;6.01e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	OV - Ovarian serous cystadenocarcinoma(49;3.83e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;5.98e-05)		TTTTGTAGCAAGGTTGCCTGA	0.338																																						ENST00000439040.1																			0				NS(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	24						c.(3298-3300)ccT>ccC		ATPase type 13A3							94	88	90					3																	194146084		1828	4077	5905	SO:0001819	synonymous_variant	79572				ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding	g.chr3:194146084A>G	AJ306929	CCDS43187.1	3q29	2010-04-20			ENSG00000133657	ENSG00000133657		"ATPases / P-type"	24113	protein-coding gene	gene with protein product	"ATPase family homolog up regulated in senescence cells"	610232				11867234	Standard	NM_024524		Approved	AFURS1	uc003fty.4	Q9H7F0	OTTHUMG00000156034	ENST00000439040.1:c.3300T>C	3.37:g.194146084A>G						ATP13A3_ENST00000256031.4_Silent_p.P1100P	p.P1100P			Q9H7F0	AT133_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;3.83e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;5.98e-05)	30	4091	-	all_cancers(143;6.01e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	1100					Q8NC11|Q96KS1	Silent	SNP	ENST00000439040.1	37	c.3300T>C	CCDS43187.1																																																																																				0.338	ATP13A3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342799.2	NM_024524		20	43	0	0	0	1	0	20	43					G	194146084	A	G	194146084	2	3	422	1	0	0	0	0	0	0	0	1	1125	59	3	4		4	ATP13A3	3	194146084	Silent	SNP	A	TCGA-WW-A8ZI-01A-11D-A377-08	155382262	194146084	3876346	9	20415											
GRID2	2895	broad.mit.edu	37	chr4	94316827	94316827	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agaaattggagaataacatgCgtggagtggttctacgtgta	13	11	13	4	2	1	2	0	0	1	2	1	4	1	3	0	3	3	2	0	3	5	5	rs200889267		TCGA-WW-A8ZI-01A-11D-A377-08	TCGA-WW-A8ZI-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f032fb5f-6499-4cd4-82c5-fec6bdb5caad	e4ae4cc7-3295-4d4c-a51b-d65f5ad626d6	g.chr4:94316827C>T	ENST00000282020.4	+	9	1573	c.1315C>T	c.(1315-1317)Cgt>Tgt	p.R439C	GRID2_ENST00000510992.1_Missense_Mutation_p.R344C	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	439					cellular protein localization (GO:0034613)|cerebellar granule cell differentiation (GO:0021707)|glutamate receptor signaling pathway (GO:0007215)|heterophilic cell-cell adhesion (GO:0007157)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|prepulse inhibition (GO:0060134)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of neuron apoptotic process (GO:0043523)|regulation of neuron projection development (GO:0010975)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|ionotropic glutamate receptor complex (GO:0008328)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|ionotropic glutamate receptor activity (GO:0004970)|PDZ domain binding (GO:0030165)|scaffold protein binding (GO:0097110)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)		GAATAACATGCGTGGAGTGGT	0.393																																						ENST00000282020.4																			0				NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100						c.(1315-1317)Cgt>Tgt		glutamate receptor, ionotropic, delta 2	L-Glutamic Acid(DB00142)						219	209	212					4																	94316827		2203	4300	6503	SO:0001583	missense	2895				glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity	g.chr4:94316827C>T	AF009014	CCDS3637.1, CCDS68758.1	4q22	2012-08-29			ENSG00000152208	ENSG00000152208		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4576	protein-coding gene	gene with protein product		602368				9465309	Standard	NM_001510		Approved	GluD2, GluR-delta-2	uc011cdt.2	O43424	OTTHUMG00000130975	ENST00000282020.4:c.1315C>T	4.37:g.94316827C>T	ENSP00000282020:p.Arg439Cys					GRID2_ENST00000510992.1_Missense_Mutation_p.R344C	p.R439C	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	9	1573	+		Hepatocellular(203;0.114)|all_hematologic(202;0.177)	439					E9PH24|Q4KKU8|Q4KKU9|Q4KKV0|Q59FZ1	Missense_Mutation	SNP	ENST00000282020.4	37	c.1315C>T	CCDS3637.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.019981	0.75275	.	.	ENSG00000152208	ENST00000282020;ENST00000510992	T;T	0.15372	2.47;2.43	6.02	6.02	0.97574	.	0.000000	0.85682	D	0.000000	T	0.25680	0.0625	N	0.14661	0.345	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.71414	0.973;0.973	T	0.03493	-1.1031	10	0.62326	D	0.03	.	15.2754	0.73737	0.1401:0.8599:0.0:0.0	.	344;439	E9PH24;O43424	.;GRID2_HUMAN	C	439;344	ENSP00000282020:R439C;ENSP00000421257:R344C	ENSP00000282020:R439C	R	+	1	0	GRID2	94535850	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	2.910000	0.48766	2.857000	0.98124	0.650000	0.86243	CGT		0.393	GRID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253588.2			49	66	0	0	0	1	0	49	66					T	94316827	C	T	94316827	3	4	422	1	0	0	0	0	1	0	0	0	6772	768	27	1	1349	1	GRID2	4	94316827	Missense_Mutation	SNP	C	TCGA-WW-A8ZI-01A-11D-A377-08		94316827	96837449	10	20416											
EGF	1950	broad.mit.edu	37	chr4	110864507	110864507	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acaggaaggaatcattacagTaacagatatgaaaggaaata	21	7	9	4	0	1	2	1	1	0	1	1	5	1	5	0	3	2	1	0	3	8	4			TCGA-WW-A8ZI-01A-11D-A377-08	TCGA-WW-A8ZI-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f032fb5f-6499-4cd4-82c5-fec6bdb5caad	e4ae4cc7-3295-4d4c-a51b-d65f5ad626d6	g.chr4:110864507T>G	ENST00000265171.5	+	3	870	c.425T>G	c.(424-426)gTa>gGa	p.V142G	EGF_ENST00000509793.1_Missense_Mutation_p.V142G|EGF_ENST00000503392.1_Missense_Mutation_p.V142G|EGF_ENST00000502723.1_3'UTR	NM_001178130.1|NM_001963.4	NP_001171601.1|NP_001954.2	P01133	EGF_HUMAN	epidermal growth factor	142					activation of MAPKK activity (GO:0000186)|activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|branching morphogenesis of an epithelial tube (GO:0048754)|DNA replication (GO:0006260)|epidermal growth factor receptor signaling pathway (GO:0007173)|ERK1 and ERK2 cascade (GO:0070371)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|mammary gland alveolus development (GO:0060749)|negative regulation of cholesterol efflux (GO:0090370)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of secretion (GO:0051048)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cerebellar granule cell precursor proliferation (GO:0021940)|positive regulation of DNA binding (GO:0043388)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of hyaluronan biosynthetic process (GO:1900127)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of mitosis (GO:0045840)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of calcium ion import (GO:0090279)|regulation of protein localization to cell surface (GO:2000008)|signal transduction (GO:0007165)|STAT protein import into nucleus (GO:0007262)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	calcium ion binding (GO:0005509)|epidermal growth factor receptor binding (GO:0005154)|growth factor activity (GO:0008083)|transmembrane receptor protein tyrosine kinase activator activity (GO:0030297)			breast(1)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Hepatocellular(203;0.0893)		OV - Ovarian serous cystadenocarcinoma(123;9.87e-06)	Sucralfate(DB00364)	ATCATTACAGTAACAGATATG	0.313																																						ENST00000265171.5																			0				breast(1)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						c.(424-426)gTa>gGa		epidermal growth factor	Sulindac(DB00605)						79	83	81					4																	110864507		2203	4300	6503	SO:0001583	missense	1950				angiogenesis|DNA replication|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of secretion|platelet activation|platelet degranulation|positive regulation of catenin import into nucleus|positive regulation of epidermal growth factor receptor activity|positive regulation of MAP kinase activity|positive regulation of mitosis|regulation of calcium ion import|regulation of protein localization at cell surface	integral to membrane|plasma membrane|platelet alpha granule lumen	calcium ion binding|epidermal growth factor receptor binding|growth factor activity|transmembrane receptor protein tyrosine kinase activator activity	g.chr4:110864507T>G	X04571	CCDS3689.1, CCDS54794.1, CCDS54795.1	4q25	2012-10-02	2010-05-11		ENSG00000138798	ENSG00000138798			3229	protein-coding gene	gene with protein product		131530	"epidermal growth factor (beta-urogastrone)"				Standard	NM_001963		Approved		uc003hzy.4	P01133	OTTHUMG00000132044	ENST00000265171.5:c.425T>G	4.37:g.110864507T>G	ENSP00000265171:p.Val142Gly					EGF_ENST00000509793.1_Missense_Mutation_p.V142G|EGF_ENST00000503392.1_Missense_Mutation_p.V142G|EGF_ENST00000502723.1_3'UTR	p.V142G	NM_001178130.1|NM_001963.4	NP_001171601.1|NP_001954.2	P01133	EGF_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;9.87e-06)	3	870	+		Hepatocellular(203;0.0893)	142					B4DRK7|E7EVD2|E9PBF0|Q52LZ6	Missense_Mutation	SNP	ENST00000265171.5	37	c.425T>G	CCDS3689.1	.	.	.	.	.	.	.	.	.	.	T	14.24	2.477818	0.44044	.	.	ENSG00000138798	ENST00000509793;ENST00000265171;ENST00000503392	T;T;T	0.28895	1.59;1.59;1.59	5.6	4.22	0.49857	Six-bladed beta-propeller, TolB-like (1);	0.466144	0.26769	N	0.022586	T	0.41096	0.1144	M	0.80746	2.51	0.45066	D	0.998087	P;D;P	0.53151	0.93;0.958;0.882	B;P;B	0.48921	0.391;0.595;0.391	T	0.44937	-0.9295	10	0.72032	D	0.01	.	7.7074	0.28659	0.0:0.1533:0.0:0.8467	.	142;142;142	E7EVD2;P01133-2;P01133	.;.;EGF_HUMAN	G	142	ENSP00000424316:V142G;ENSP00000265171:V142G;ENSP00000421384:V142G	ENSP00000265171:V142G	V	+	2	0	EGF	111083956	0.968000	0.33430	0.998000	0.56505	0.997000	0.91878	1.384000	0.34396	2.133000	0.65898	0.528000	0.53228	GTA		0.313	EGF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255065.1			58	76	0	0	0	1	0	58	76					G	110864507	T	G	110864507	3	3	422	1	0	0	0	0	1	0	0	0	4962	1638	57	5	435	5	EGF	4	110864507	Missense_Mutation	SNP	T	TCGA-WW-A8ZI-01A-11D-A377-08	16547680	110864507	80289769	11	20417											
PCDH18	54510	broad.mit.edu	37	chr4	138453022	138453022	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cgtttactacaagtagaggaGaatttcccctctgcatggct	10	12	9	10	1	1	2	0	0	1	2	2	3	2	2	2	2	3	4	2	2	5	5			TCGA-WW-A8ZI-01A-11D-A377-08	TCGA-WW-A8ZI-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f032fb5f-6499-4cd4-82c5-fec6bdb5caad	e4ae4cc7-3295-4d4c-a51b-d65f5ad626d6	g.chr4:138453022G>A	ENST00000344876.4	-	1	607	c.221C>T	c.(220-222)tCt>tTt	p.S74F	PCDH18_ENST00000511115.1_Intron|PCDH18_ENST00000412923.2_Missense_Mutation_p.S74F|PCDH18_ENST00000510305.1_Intron|PCDH18_ENST00000507846.1_Intron	NM_019035.3	NP_061908.1	Q9HCL0	PCD18_HUMAN	protocadherin 18	74	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				brain development (GO:0007420)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					AAGTAGAGGAGAATTTCCCCT	0.428																																						ENST00000344876.4																			0				NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86						c.(220-222)tCt>tTt		protocadherin 18							148	145	146					4																	138453022		2203	4300	6503	SO:0001583	missense	54510				brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:138453022G>A	AL137471	CCDS34064.1, CCDS75193.1	4q28.3	2010-01-26			ENSG00000189184	ENSG00000189184		"Cadherins / Protocadherins : Non-clustered"	14268	protein-coding gene	gene with protein product		608287				10835267, 11549318	Standard	XM_005263070		Approved	KIAA1562, PCDH68L	uc003ihe.4	Q9HCL0	OTTHUMG00000161348	ENST00000344876.4:c.221C>T	4.37:g.138453022G>A	ENSP00000355082:p.Ser74Phe					PCDH18_ENST00000511115.1_Intron|PCDH18_ENST00000510305.1_Intron|PCDH18_ENST00000507846.1_Intron|PCDH18_ENST00000412923.2_Missense_Mutation_p.S74F	p.S74F	NM_019035.3	NP_061908.1	Q9HCL0	PCD18_HUMAN			1	607	-	all_hematologic(180;0.24)		74			Cadherin 1.		A8K7K3|B7ZKT1|Q52LS2	Missense_Mutation	SNP	ENST00000344876.4	37	c.221C>T	CCDS34064.1	.	.	.	.	.	.	.	.	.	.	G	15.73	2.918376	0.52546	.	.	ENSG00000189184	ENST00000344876;ENST00000412923	T;T	0.28454	1.61;1.61	5.56	4.72	0.59763	Cadherin, N-terminal (1);Cadherin (3);Cadherin-like (1);	0.349077	0.20667	U	0.087915	T	0.46092	0.1375	M	0.64997	1.995	0.80722	D	1	P;P	0.42203	0.659;0.773	P;P	0.52267	0.694;0.678	T	0.43048	-0.9415	10	0.59425	D	0.04	.	14.1569	0.65424	0.0716:0.0:0.9284:0.0	.	74;74	Q9HCL0-2;Q9HCL0	.;PCD18_HUMAN	F	74	ENSP00000355082:S74F;ENSP00000390688:S74F	ENSP00000355082:S74F	S	-	2	0	PCDH18	138672472	1.000000	0.71417	0.681000	0.30009	0.064000	0.16182	2.381000	0.44336	1.351000	0.45789	0.555000	0.69702	TCT		0.428	PCDH18-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364614.1	NM_019035		4	146	0	0	0	1	0	4	146					A	138453022	G	A	138453022	3	1	422	1	0	0	0	0	1	0	0	0	11513	942	33	3	3202	3	PCDH18	4	138453022	Missense_Mutation	SNP	G	TCGA-WW-A8ZI-01A-11D-A377-08	27588515	138453022	52701254	12	20418											
CDH12	1010	broad.mit.edu	37	chr5	21802288	21802288	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tttctcacctaacagcactgCtgcctacatccaggtcttga	9	12	6	14	0	2	1	1	1	2	0	4	1	3	1	3	1	5	2	3	1	2	4			TCGA-WW-A8ZI-01A-11D-A377-08	TCGA-WW-A8ZI-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f032fb5f-6499-4cd4-82c5-fec6bdb5caad	e4ae4cc7-3295-4d4c-a51b-d65f5ad626d6	g.chr5:21802288C>T	ENST00000382254.1	-	10	2330	c.1244G>A	c.(1243-1245)aGc>aAc	p.S415N	CDH12_ENST00000522262.1_Missense_Mutation_p.S375N|CDH12_ENST00000521384.1_5'UTR|CDH12_ENST00000504376.2_Missense_Mutation_p.S415N	NM_004061.3	NP_004052.2	P55289	CAD12_HUMAN	cadherin 12, type 2 (N-cadherin 2)	415	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						AACAGCACTGCTGCCTACATC	0.433										HNSCC(59;0.17)																												ENST00000382254.1																			0				NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						c.(1243-1245)aGc>aAc		cadherin 12, type 2 (N-cadherin 2)							84	66	72					5																	21802288		2203	4300	6503	SO:0001583	missense	1010				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:21802288C>T	L33477	CCDS3890.1	5p14.3	2010-01-26			ENSG00000154162	ENSG00000154162		"Cadherins / Major cadherins"	1751	protein-coding gene	gene with protein product		600562				7731968	Standard	NM_004061		Approved	Br-cadherin, CDHB	uc003jgk.2	P55289	OTTHUMG00000090591	ENST00000382254.1:c.1244G>A	5.37:g.21802288C>T	ENSP00000371689:p.Ser415Asn	HNSCC(59;0.17)				CDH12_ENST00000522262.1_Missense_Mutation_p.S375N|CDH12_ENST00000521384.1_5'UTR|CDH12_ENST00000504376.2_Missense_Mutation_p.S415N	p.S415N	NM_004061.3	NP_004052.2	P55289	CAD12_HUMAN			10	2330	-			415			Cadherin 4.		B2RBT1|B7Z2U6|Q86UD2	Missense_Mutation	SNP	ENST00000382254.1	37	c.1244G>A	CCDS3890.1	.	.	.	.	.	.	.	.	.	.	C	4.644	0.119804	0.08881	.	.	ENSG00000154162	ENST00000504376;ENST00000382254;ENST00000522262	T;T;T	0.37235	1.21;1.21;1.21	5.84	5.84	0.93424	Cadherin (4);Cadherin-like (1);	0.162599	0.64402	D	0.000003	T	0.16342	0.0393	N	0.03294	-0.36	0.42174	D	0.991652	B;B	0.12013	0.001;0.005	B;B	0.14578	0.009;0.011	T	0.12344	-1.0551	10	0.02654	T	1	.	15.5979	0.76602	0.0:0.8631:0.1369:0.0	.	375;415	B7Z2U6;P55289	.;CAD12_HUMAN	N	415;415;375	ENSP00000423577:S415N;ENSP00000371689:S415N;ENSP00000428786:S375N	ENSP00000371689:S415N	S	-	2	0	CDH12	21838045	0.995000	0.38212	0.976000	0.42696	0.916000	0.54674	1.463000	0.35277	2.765000	0.95021	0.655000	0.94253	AGC		0.433	CDH12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207139.1	NM_004061		39	32	0	0	0	1	0	39	32					T	21802288	C	T	21802288	3	4	422	1	0	0	0	0	1	0	0	0	3098	797	28	3	1164	3	CDH12	5	21802288	Missense_Mutation	SNP	C	TCGA-WW-A8ZI-01A-11D-A377-08		21802288	159112972	13	20419											
HTR1A	3350	broad.mit.edu	37	chr5	63256592	63256592	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atttttcctctcgaaagaggCgggggcacaaggggtaggac	10	8	15	8	2	1	1	0	0	1	1	3	3	2	2	1	6	0	2	1	6	3	3			TCGA-WW-A8ZI-01A-11D-A377-08	TCGA-WW-A8ZI-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f032fb5f-6499-4cd4-82c5-fec6bdb5caad	e4ae4cc7-3295-4d4c-a51b-d65f5ad626d6	g.chr5:63256592C>T	ENST00000323865.3	-	1	1188	c.955G>A	c.(955-957)Gcc>Acc	p.A319T	RP11-158J3.2_ENST00000502882.1_RNA	NM_000524.3	NP_000515.2	P08908	5HT1A_HUMAN	5-hydroxytryptamine (serotonin) receptor 1A, G protein-coupled	319					adenylate cyclase-inhibiting serotonin receptor signaling pathway (GO:0007198)|behavioral fear response (GO:0001662)|cell proliferation (GO:0008283)|exploration behavior (GO:0035640)|G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cell proliferation (GO:0008284)|regulation of behavior (GO:0050795)|regulation of dopamine metabolic process (GO:0042053)|regulation of hormone secretion (GO:0046883)|regulation of serotonin secretion (GO:0014062)|serotonin metabolic process (GO:0042428)|serotonin receptor signaling pathway (GO:0007210)|vasoconstriction (GO:0042310)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	serotonin receptor activity (GO:0004993)			cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(29)|ovary(2)|pancreas(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	56		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234)		Lung(70;0.105)	Acepromazine(DB01614)|Alprenolol(DB00866)|Alverine(DB01616)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bopindolol(DB08807)|Bromocriptine(DB01200)|Buspirone(DB00490)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Cinitapride(DB08810)|Clozapine(DB00363)|Desipramine(DB01151)|Dopamine(DB00988)|Doxepin(DB01142)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Iloperidone(DB04946)|Imipramine(DB00458)|Ketamine(DB01221)|Lisuride(DB00589)|Loxapine(DB00408)|Lurasidone(DB08815)|Methysergide(DB00247)|Mianserin(DB06148)|Molindone(DB01618)|Naratriptan(DB00952)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Ondansetron(DB00904)|Paliperidone(DB01267)|Penbutolol(DB01359)|Pergolide(DB01186)|Pindolol(DB00960)|Pipotiazine(DB01621)|Pramipexole(DB00413)|Propranolol(DB00571)|Quetiapine(DB01224)|Risperidone(DB00734)|Ropinirole(DB00268)|Rotigotine(DB05271)|Sumatriptan(DB00669)|Thioproperazine(DB01622)|Trazodone(DB00656)|Trimipramine(DB00726)|Vilazodone(DB06684)|Yohimbine(DB01392)|Ziprasidone(DB00246)|Zolmitriptan(DB00315)	TCGAAAGAGGCGGGGGCACAA	0.632																																						ENST00000323865.3																			0				cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(29)|ovary(2)|pancreas(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	56						c.(955-957)Gcc>Acc		5-hydroxytryptamine (serotonin) receptor 1A, G protein-coupled	Alprenolol(DB00866)|Aripiprazole(DB01238)|Buspirone(DB00490)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Fluvoxamine(DB00176)|Lisuride(DB00589)|Methysergide(DB00247)|Mirtazapine(DB00370)|Pindolol(DB00960)|Propranolol(DB00571)|Quetiapine(DB01224)|Sertraline(DB01104)|Tegaserod(DB01079)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246)						46	49	48					5																	63256592		2203	4300	6503	SO:0001583	missense	3350				behavior|positive regulation of cell proliferation	integral to plasma membrane	serotonin receptor activity	g.chr5:63256592C>T	AF498978	CCDS34168.1	5q11.2-q13	2012-08-08	2012-02-03			ENSG00000178394		"5-HT (serotonin) receptors", "GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"	5286	protein-coding gene	gene with protein product		109760	"5-hydroxytryptamine (serotonin) receptor 1A"	ADRB2RL1, ADRBRL1		2591972, 12969265	Standard	NM_000524		Approved	5-HT1A	uc011cqt.3	P08908		ENST00000323865.3:c.955G>A	5.37:g.63256592C>T	ENSP00000316244:p.Ala319Thr					RP11-158J3.2_ENST00000502882.1_RNA	p.A319T	NM_000524.3	NP_000515.2	P08908	5HT1A_HUMAN		Lung(70;0.105)	1	1188	-		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234)	319					Q6LAE7	Missense_Mutation	SNP	ENST00000323865.3	37	c.955G>A	CCDS34168.1	.	.	.	.	.	.	.	.	.	.	C	5.148	0.212921	0.09757	.	.	ENSG00000178394	ENST00000323865	T	0.62788	0.0	5.7	-1.84	0.07809	GPCR, rhodopsin-like superfamily (1);	1.160630	0.06370	N	0.713439	T	0.36635	0.0974	N	0.20807	0.61	0.09310	N	0.999995	B	0.02656	0.0	B	0.08055	0.003	T	0.13656	-1.0501	10	0.10636	T	0.68	.	0.9262	0.01325	0.2312:0.318:0.1152:0.3356	.	319	P08908	5HT1A_HUMAN	T	319	ENSP00000316244:A319T	ENSP00000316244:A319T	A	-	1	0	HTR1A	63292348	0.000000	0.05858	0.041000	0.18516	0.451000	0.32288	-0.887000	0.04152	-0.257000	0.09459	-0.274000	0.10170	GCC		0.632	HTR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368397.1	NM_000524		6	69	0	0	0	1	0	6	69					T	63256592	C	T	63256592	3	4	422	1	0	0	0	0	1	0	0	0	7436	768	27	1	316	1	HTR1A	5	63256592	Missense_Mutation	SNP	C	TCGA-WW-A8ZI-01A-11D-A377-08	41454304	63256592	117658668	14	20420											
RAB24	53917	broad.mit.edu	37	chr5	176728925	176728925	+	Splice_Site	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aaaggctggggaagcacacaCctgtcatcacctggaaggca	13	5	12	11	0	2	0	2	0	0	0	2	2	2	2	2	5	1	3	2	5	3	0			TCGA-WW-A8ZI-01A-11D-A377-08	TCGA-WW-A8ZI-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f032fb5f-6499-4cd4-82c5-fec6bdb5caad	e4ae4cc7-3295-4d4c-a51b-d65f5ad626d6	g.chr5:176728925C>G	ENST00000303251.6	-	7	967		c.e7+1		PRELID1_ENST00000303204.4_5'Flank|RAB24_ENST00000393611.2_Splice_Site|PRELID1_ENST00000503216.1_5'Flank|RAB24_ENST00000303270.6_Splice_Site	NM_001031677.2	NP_001026847.1	Q969Q5	RAB24_HUMAN	RAB24, member RAS oncogene family						autophagy (GO:0006914)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	autophagic vacuole (GO:0005776)|membrane (GO:0016020)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)	p.?(1)				all_cancers(89;2.49e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GAAGCACACACCTGTCATCAC	0.537																																						ENST00000303270.6																			1	Unknown(1)	p.?(1)	kidney(1)								c.e6+1		RAB24, member RAS oncogene family							122	121	121					5																	176728925		2203	4300	6503	SO:0001630	splice_region_variant	53917				autophagy|protein transport|small GTPase mediated signal transduction	cytosol|membrane	GTP binding|protein binding	g.chr5:176728925C>G	AF087904	CCDS34300.1	5q35.3	2009-10-06			ENSG00000169228	ENSG00000169228		"RAB, member RAS oncogene"	9765	protein-coding gene	gene with protein product		612415					Standard	NM_001031677		Approved		uc003mfw.3	Q969Q5	OTTHUMG00000130849	ENST00000303251.6:c.547+1G>C	5.37:g.176728925C>G						RAB24_ENST00000303251.6_Splice_Site|RAB24_ENST00000393611.2_Splice_Site				Q969Q5	RAB24_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		6	1063	-	all_cancers(89;2.49e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)						Q7Z4Z7	Splice_Site	SNP	ENST00000303251.6	37		CCDS34300.1	.	.	.	.	.	.	.	.	.	.	C	18.42	3.620257	0.66787	.	.	ENSG00000169228	ENST00000393611;ENST00000303251;ENST00000303270	.	.	.	4.68	4.68	0.58851	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.7856	0.88536	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	RAB24	176661531	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	6.920000	0.75799	2.432000	0.82394	0.561000	0.74099	.		0.537	RAB24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253416.1	NM_130781	Intron	29	44	0	0	0	1	0	29	44					G	176728925	C	G	176728925	5	3	422	1	0	0	0	0	0	0	1	0	12911	521	18	5	71	5	RAB24	5	176728925	Splice_Site	SNP	C	TCGA-WW-A8ZI-01A-11D-A377-08	113472333	176728925	4186335	15	20421											
HIST1H2BO	8348	broad.mit.edu	37	chr6	27861401	27861401	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gcaagtccaccccgacaccgGcatctcatcgaaggccatgg	10	5	10	16	3	1	0	1	0	1	0	4	2	2	0	5	3	0	2	5	3	2	0			TCGA-WW-A8ZI-01A-11D-A377-08	TCGA-WW-A8ZI-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f032fb5f-6499-4cd4-82c5-fec6bdb5caad	e4ae4cc7-3295-4d4c-a51b-d65f5ad626d6	g.chr6:27861401G>A	ENST00000303806.4	+	1	199	c.161G>A	c.(160-162)gGc>gAc	p.G54D	HIST1H3J_ENST00000479986.1_5'Flank|HIST1H2AM_ENST00000359611.2_5'Flank|HIST1H3J_ENST00000359303.2_5'Flank	NM_003527.4	NP_003518.2	P23527	H2B1O_HUMAN	histone cluster 1, H2bo	54					chromatin organization (GO:0006325)|nucleosome assembly (GO:0006334)	nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)										CCCGACACCGGCATCTCATCG	0.557																																						ENST00000303806.4																			0											c.(160-162)gGc>gAc		histone cluster 1, H2bo							161	145	151					6																	27861401		2203	4300	6503	SO:0001583	missense	8348				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr6:27861401G>A	X57138	CCDS4640.1	6p22.1	2011-01-27	2006-10-11	2003-02-21	ENSG00000196331			"Histones / Replication-dependent"	4758	protein-coding gene	gene with protein product		602808	"H2B histone family, member N", "histone 1, H2bo"	H2BFN		1768865, 12408966	Standard	NM_003527		Approved	H2B/n, H2B.2	uc003nkc.1	P23527	OTTHUMG00000014493	ENST00000303806.4:c.161G>A	6.37:g.27861401G>A	ENSP00000303408:p.Gly54Asp						p.G54D	NM_003527.4	NP_003518.2	P23527	H2B1O_HUMAN			1	199	+			54					Q3KPI7|Q8TCV6	Missense_Mutation	SNP	ENST00000303806.4	37	c.161G>A	CCDS4640.1	.	.	.	.	.	.	.	.	.	.	G	19.99	3.928991	0.73327	.	.	ENSG00000196331	ENST00000303806	T	0.69435	-0.4	3.55	3.55	0.40652	Histone-fold (2);Histone core (1);	.	.	.	.	T	0.82240	0.4994	M	0.93150	3.385	0.51767	D	0.999939	D	0.61697	0.99	D	0.64595	0.927	D	0.87114	0.2187	9	0.87932	D	0	.	14.9186	0.70818	0.0:0.0:1.0:0.0	.	54	P23527	H2B1O_HUMAN	D	54	ENSP00000303408:G54D	ENSP00000303408:G54D	G	+	2	0	HIST1H2BO	27969380	1.000000	0.71417	1.000000	0.80357	0.528000	0.34623	7.022000	0.76431	2.275000	0.75901	0.561000	0.74099	GGC		0.557	HIST1H2BO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040161.1	NM_003527		4	230	0	0	0	1	0	4	230					A	27861401	G	A	27861401	3	1	422	1	0	0	0	0	1	0	0	0	7154	1203	42	3	163	3	HIST1H2BO	6	27861401	Missense_Mutation	SNP	G	TCGA-WW-A8ZI-01A-11D-A377-08		27861401	143253666	16	20422											
TRIM26	7726	broad.mit.edu	37	chr6	30164320	30164320	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agctctgcagctggctgctgCgccttgccctccagttcgga	4	10	12	15	2	1	0	0	0	1	0	3	1	2	1	3	2	6	6	3	2	0	2			TCGA-WW-A8ZI-01A-11D-A377-08	TCGA-WW-A8ZI-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f032fb5f-6499-4cd4-82c5-fec6bdb5caad	e4ae4cc7-3295-4d4c-a51b-d65f5ad626d6	g.chr6:30164320C>T	ENST00000454678.2	-	6	1174	c.738G>A	c.(736-738)gcG>gcA	p.A246A	TRIM26_ENST00000437089.1_Silent_p.A246A|TRIM26_ENST00000453195.1_Silent_p.A246A|TRIM26_ENST00000487829.1_5'Flank	NM_003449.4	NP_003440.1	Q12899	TRI26_HUMAN	tripartite motif containing 26	246					innate immune response (GO:0045087)|negative regulation of viral entry into host cell (GO:0046597)|negative regulation of viral release from host cell (GO:1902187)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)	cytoplasm (GO:0005737)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|zinc ion binding (GO:0008270)			lung(1)|ovary(2)	3						CTGGCTGCTGCGCCTTGCCCT	0.682																																						ENST00000454678.2																			0				lung(1)|ovary(2)	3						c.(736-738)gcG>gcA		tripartite motif containing 26							34	38	36					6																	30164320		2195	4286	6481	SO:0001819	synonymous_variant	7726						DNA binding|zinc ion binding	g.chr6:30164320C>T	AB088090	CCDS4678.1	6p21.3	2013-01-09	2011-01-25	2001-11-23	ENSG00000234127	ENSG00000234127		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	12962	protein-coding gene	gene with protein product		600830	"tripartite motif-containing 26"	ZNF173		8530076	Standard	NM_003449		Approved	RNF95	uc003npt.3	Q12899	OTTHUMG00000031041	ENST00000454678.2:c.738G>A	6.37:g.30164320C>T						TRIM26_ENST00000437089.1_Silent_p.A246A|TRIM26_ENST00000453195.1_Silent_p.A246A	p.A246A	NM_003449.4	NP_003440.1	Q12899	TRI26_HUMAN			6	1174	-			246					A6NG96|Q5SRL2	Silent	SNP	ENST00000454678.2	37	c.738G>A	CCDS4678.1																																																																																				0.682	TRIM26-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253442.1	NM_003449		33	34	0	0	0	1	0	33	34					T	30164320	C	T	30164320	2	4	422	1	0	0	0	0	0	0	0	1	16497	755	27	1		1	TRIM26	6	30164320	Silent	SNP	C	TCGA-WW-A8ZI-01A-11D-A377-08	2302919	30164320	140950747	17	20423											
BCLAF1	9774	broad.mit.edu	37	chr6	136594312	136594313	+	Frame_Shift_Ins	INS	-	-	TTGAAGTATTGCTCTG																															ttagggtcattgcagctgacINSttgaagtattgctctgttga																										TCGA-WW-A8ZI-01A-11D-A377-08	TCGA-WW-A8ZI-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f032fb5f-6499-4cd4-82c5-fec6bdb5caad	e4ae4cc7-3295-4d4c-a51b-d65f5ad626d6	g.chr6:136594312_136594313insTTGAAGTATTGCTCTG	ENST00000531224.1	-	7	2117_2118	c.1865_1866insCAGAGCAATACTTCAA	c.(1864-1866)aagfs	p.K622fs	BCLAF1_ENST00000527759.1_Frame_Shift_Ins_p.K620fs|BCLAF1_ENST00000530767.1_Frame_Shift_Ins_p.K449fs|BCLAF1_ENST00000392348.2_Frame_Shift_Ins_p.K620fs|BCLAF1_ENST00000527536.1_Frame_Shift_Ins_p.K622fs|BCLAF1_ENST00000353331.4_Frame_Shift_Ins_p.K620fs	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1	622					apoptotic process (GO:0006915)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA-templated transcription, initiation (GO:2000144)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of response to DNA damage stimulus (GO:2001022)|regulation of DNA-templated transcription in response to stress (GO:0043620)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		TTGCAGCTGACTTGAAGTATTG	0.401																																					Colon(142;1534 1789 5427 7063 28491)	ENST00000531224.1																			0				haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9						c.(1864-1866)atcfs		BCL2-associated transcription factor 1																																				SO:0001589	frameshift_variant	9774				induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding	g.chr6:136594312_136594313insTTGAAGTATTGCTCTG	AF249273	CCDS5177.1, CCDS47485.1, CCDS47486.1, CCDS75525.1	6q22-q23	2007-03-02			ENSG00000029363	ENSG00000029363			16863	protein-coding gene	gene with protein product		612588				8724849, 10330179	Standard	NM_001077440		Approved	KIAA0164, BTF	uc003qgx.1	Q9NYF8	OTTHUMG00000033323	ENST00000531224.1:c.1865_1866insCAGAGCAATACTTCAA	6.37:g.136594312_136594313insTTGAAGTATTGCTCTG	ENSP00000435210:p.Lys622fs					BCLAF1_ENST00000527759.1_Frame_Shift_Ins_p.I620fs|BCLAF1_ENST00000530767.1_Frame_Shift_Ins_p.I449fs|BCLAF1_ENST00000527536.1_Frame_Shift_Ins_p.I622fs|BCLAF1_ENST00000392348.2_Frame_Shift_Ins_p.I620fs|BCLAF1_ENST00000353331.4_Frame_Shift_Ins_p.I620fs	p.I622fs	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN		GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)	7	2117_2118	-	Colorectal(23;0.24)		622					A2RU75|B7ZM58|E1P586|Q14673|Q86WU6|Q86WY0	Frame_Shift_Ins	INS	ENST00000531224.1	37	c.1865_1866insCAGAGCAATACTTCAA	CCDS5177.1																																																																																				0.401	BCLAF1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042375.2	NM_014739		11	259						11	259	---	---	---	---	TTGAAGTATTGCTCTG	136594313	-	TTGAAGTATTGCTCTG	136594312	7	5	422	1	0	1	1	0	0	0	0	0	1383	564	20	0	924	0	BCLAF1	6	136594312	Frame_Shift_Ins	INS	-	TCGA-WW-A8ZI-01A-11D-A377-08	106429992	136594312	34520755	18	20424											
PPP1R14C	81706	broad.mit.edu	37	chr6	150569907	150569907	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tatcaaagagctgctttctcGgataagaggcatgaggaaac	14	9	11	7	1	2	3	1	1	1	2	3	5	2	5	0	3	3	3	0	3	4	3			TCGA-WW-A8ZI-01A-11D-A377-08	TCGA-WW-A8ZI-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f032fb5f-6499-4cd4-82c5-fec6bdb5caad	e4ae4cc7-3295-4d4c-a51b-d65f5ad626d6	g.chr6:150569907G>A	ENST00000361131.4	+	4	566	c.449G>A	c.(448-450)cGg>cAg	p.R150Q		NM_030949.2	NP_112211.1	Q8TAE6	PP14C_HUMAN	protein phosphatase 1, regulatory (inhibitor) subunit 14C	150					regulation of phosphorylation (GO:0042325)	cytoplasm (GO:0005737)|membrane (GO:0016020)	protein serine/threonine phosphatase inhibitor activity (GO:0004865)	p.R150Q(1)		endometrium(1)|large_intestine(1)|prostate(1)	3		Ovarian(120;0.0284)	BRCA - Breast invasive adenocarcinoma(37;0.215)	OV - Ovarian serous cystadenocarcinoma(155;9.14e-12)		CTGCTTTCTCGGATAAGAGGC	0.393																																					Melanoma(165;1879 1941 2052 16588 48349)	ENST00000361131.4																			1	Substitution - Missense(1)	p.R150Q(1)	prostate(1)	endometrium(1)|large_intestine(1)|prostate(1)	3						c.(448-450)cGg>cAg		protein phosphatase 1, regulatory (inhibitor) subunit 14C							61	63	63					6																	150569907		2203	4300	6503	SO:0001583	missense	81706				regulation of phosphorylation	cytoplasm|membrane		g.chr6:150569907G>A	AF308297	CCDS5226.1	6q24.3-q25.3	2012-04-17			ENSG00000198729	ENSG00000198729		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	14952	protein-coding gene	gene with protein product	"kinase C-enhanced PP1 inhibitor"	613242				11948623	Standard	NM_030949		Approved	CPI17-like, NY-BR-81, KEPI	uc003qnt.3	Q8TAE6	OTTHUMG00000015818	ENST00000361131.4:c.449G>A	6.37:g.150569907G>A	ENSP00000355260:p.Arg150Gln						p.R150Q	NM_030949.2	NP_112211.1	Q8TAE6	PP14C_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.215)	OV - Ovarian serous cystadenocarcinoma(155;9.14e-12)	4	566	+		Ovarian(120;0.0284)	150					Q5VY83|Q96BB1|Q9H277	Missense_Mutation	SNP	ENST00000361131.4	37	c.449G>A	CCDS5226.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.058326	0.76074	.	.	ENSG00000198729	ENST00000361131	T	0.55930	0.49	5.62	4.75	0.60458	.	0.000000	0.85682	D	0.000000	T	0.56775	0.2008	L	0.56124	1.755	0.44702	D	0.997699	D	0.76494	0.999	D	0.68039	0.955	T	0.59963	-0.7355	10	0.46703	T	0.11	-17.6136	14.3708	0.66838	0.0708:0.0:0.9292:0.0	.	150	Q8TAE6	PP14C_HUMAN	Q	150	ENSP00000355260:R150Q	ENSP00000355260:R150Q	R	+	2	0	PPP1R14C	150611600	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.986000	0.76200	1.370000	0.46153	0.650000	0.86243	CGG		0.393	PPP1R14C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042685.1	NM_030949		26	27	0	0	0	1	0	26	27					A	150569907	G	A	150569907	3	1	422	1	0	0	0	0	1	0	0	0	12361	1116	39	2	463	2	PPP1R14C	6	150569907	Missense_Mutation	SNP	G	TCGA-WW-A8ZI-01A-11D-A377-08	13975595	150569907	20545160	19	20425											
FNDC1	84624	broad.mit.edu	37	chr6	159653389	159653389	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgcccaggggcgcccccctcGgcttcggcctctcctgccca	2	6	11	22	4	1	0	0	0	1	0	4	0	1	0	7	4	1	1	7	4	0	1			TCGA-WW-A8ZI-01A-11D-A377-08	TCGA-WW-A8ZI-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f032fb5f-6499-4cd4-82c5-fec6bdb5caad	e4ae4cc7-3295-4d4c-a51b-d65f5ad626d6	g.chr6:159653389G>A	ENST00000297267.9	+	11	2045	c.1845G>A	c.(1843-1845)tcG>tcA	p.S615S	FNDC1_ENST00000340366.6_Silent_p.S552S	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	615					cellular response to hypoxia (GO:0071456)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of protein phosphorylation (GO:0001934)|regulation of protein transport (GO:0051223)	cell-cell junction (GO:0005911)|extracellular region (GO:0005576)|mitochondrial membrane (GO:0031966)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		CGCCCCCCTCGGCTTCGGCCT	0.677																																						ENST00000297267.9																			0				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93						c.(1843-1845)tcG>tcA		fibronectin type III domain containing 1							22	26	25					6																	159653389		1992	4148	6140	SO:0001819	synonymous_variant	84624					extracellular region		g.chr6:159653389G>A	AB058769	CCDS47512.1	6q25	2013-02-11			ENSG00000164694	ENSG00000164694		"Fibronectin type III domain containing"	21184	protein-coding gene	gene with protein product		609991	"fibronectin type III domain containing 2"	FNDC2		11347906	Standard	NM_032532		Approved	bA243O10.1, KIAA1866, dJ322A24.1	uc010kjv.3	Q4ZHG4	OTTHUMG00000015927	ENST00000297267.9:c.1845G>A	6.37:g.159653389G>A						FNDC1_ENST00000340366.6_Silent_p.S552S	p.S615S	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)	11	2045	+		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)	615					A6H8X2|B7ZBR4|B7ZBR5|B9EK49|Q5JPI0|Q5VU31|Q5VU32|Q5VXX4|Q70CQ6|Q96JG1	Silent	SNP	ENST00000297267.9	37	c.1845G>A	CCDS47512.1	.	.	.	.	.	.	.	.	.	.	G	2.867	-0.234877	0.05983	.	.	ENSG00000164694	ENST00000329629	.	.	.	4.17	-8.34	0.00988	.	.	.	.	.	T	0.03827	0.0108	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.05649	-1.0872	4	.	.	.	0.6215	2.3538	0.04291	0.4469:0.0804:0.2478:0.2249	.	.	.	.	S	511	.	.	G	+	1	0	FNDC1	159573379	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-3.683000	0.00394	-5.679000	0.00010	-2.805000	0.00112	GGC		0.677	FNDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042897.3	NM_032532		24	46	0	0	0	1	0	24	46					A	159653389	G	A	159653389	2	1	422	1	0	0	0	0	0	0	0	1	5968	1103	39	2		2	FNDC1	6	159653389	Silent	SNP	G	TCGA-WW-A8ZI-01A-11D-A377-08	9083482	159653389	11461678	20	20426											
ADCY1	107	broad.mit.edu	37	chr7	45717555	45717555	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acaccaccccgggcactcgcGtcaacaggtacatcagccgc	10	4	9	18	4	2	0	2	0	0	0	3	0	2	0	4	2	3	2	4	2	2	1			TCGA-WW-A8ZI-01A-11D-A377-08	TCGA-WW-A8ZI-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f032fb5f-6499-4cd4-82c5-fec6bdb5caad	e4ae4cc7-3295-4d4c-a51b-d65f5ad626d6	g.chr7:45717555G>A	ENST00000297323.7	+	9	1715	c.1693G>A	c.(1693-1695)Gtc>Atc	p.V565I		NM_021116.2	NP_066939.1	Q08828	ADCY1_HUMAN	adenylate cyclase 1 (brain)	565					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|axonogenesis (GO:0007409)|cellular response to glucagon stimulus (GO:0071377)|circadian rhythm (GO:0007623)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|long-term memory (GO:0007616)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of circadian rhythm (GO:0042752)|response to drug (GO:0042493)|response to lithium ion (GO:0010226)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	71					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	GGGCACTCGCGTCAACAGGTA	0.527																																						ENST00000297323.7																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	71						c.(1693-1695)Gtc>Atc		adenylate cyclase 1 (brain)	Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Adenosine(DB00640)						76	85	82					7																	45717555		2203	4300	6503	SO:0001583	missense	107				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding	g.chr7:45717555G>A	L05500	CCDS34631.1, CCDS75593.1	7p13-p12	2013-02-04			ENSG00000164742	ENSG00000164742	4.6.1.1	"Adenylate cyclases"	232	protein-coding gene	gene with protein product		103072				8314585	Standard	NM_021116		Approved	AC1	uc003tne.4	Q08828	OTTHUMG00000155420	ENST00000297323.7:c.1693G>A	7.37:g.45717555G>A	ENSP00000297323:p.Val565Ile						p.V565I	NM_021116.2	NP_066939.1	Q08828	ADCY1_HUMAN			9	1715	+			565					A4D2L8|Q75MI1	Missense_Mutation	SNP	ENST00000297323.7	37	c.1693G>A	CCDS34631.1	.	.	.	.	.	.	.	.	.	.	G	34	5.309565	0.95629	.	.	ENSG00000164742	ENST00000297323;ENST00000545300	D	0.81659	-1.52	5.24	5.24	0.73138	.	0.000000	0.85682	D	0.000000	T	0.80053	0.4553	M	0.63843	1.955	0.80722	D	1	P	0.47484	0.896	B	0.43809	0.432	T	0.79179	-0.1910	10	0.30078	T	0.28	.	16.3318	0.83023	0.0:0.0:1.0:0.0	.	565	Q08828	ADCY1_HUMAN	I	565	ENSP00000297323:V565I	ENSP00000297323:V565I	V	+	1	0	ADCY1	45684080	1.000000	0.71417	0.950000	0.38849	0.981000	0.71138	9.260000	0.95568	2.445000	0.82738	0.655000	0.94253	GTC		0.527	ADCY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340055.2	NM_021116		4	112	0	0	0	1	0	4	112					A	45717555	G	A	45717555	3	1	422	1	0	0	0	0	1	0	0	0	292	1145	40	1	1727	1	ADCY1	7	45717555	Missense_Mutation	SNP	G	TCGA-WW-A8ZI-01A-11D-A377-08		45717555	113421108	21	20427											
PRSS2	154754	broad.mit.edu	37	chr7	142479980	142479980	+	RNA	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aggagaattctgtcccctacCaggtgtccttgaattctggc	8	12	10	11	0	2	2	0	1	2	1	4	3	4	2	4	3	1	0	4	3	3	4			TCGA-WW-A8ZI-01A-11D-A377-08	TCGA-WW-A8ZI-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f032fb5f-6499-4cd4-82c5-fec6bdb5caad	e4ae4cc7-3295-4d4c-a51b-d65f5ad626d6	g.chr7:142479980C>A	ENST00000603901.1	+	0	112					NR_001296.3		Q8NHM4	TRY6_HUMAN	protease, serine, 3 pseudogene 2						endothelial cell migration (GO:0043542)	extracellular region (GO:0005576)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)										TGTCCCCTACCAGGTGTCCTT	0.552																																						ENST00000603901.1																			0																				96	72	79					7																	142479980		692	1591	2283			0							g.chr7:142479980C>A			7q34	2012-03-06			ENSG00000250606	ENSG00000275896			43788	pseudogene	pseudogene	"trypsinogen C"						Standard	NR_001296		Approved	TRY6	uc011ksq.2	Q8NHM4	OTTHUMG00000158904		7.37:g.142479980C>A								NR_001296.3						0	112	+									RNA	SNP	ENST00000603901.1	37																																																																																						0.552	PRSS3P2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000470000.1	NR_001296		63	131	1	0	3.63617e-18	1	3.75161e-18	63	131					A	142479980	C	A	142479980	1	1	422	0	1	0	0	0	0	0	0	0	12617	595	21	5		5	PRSS2	7	142479980	RNA	SNP	C	TCGA-WW-A8ZI-01A-11D-A377-08	96762425	142479980	16658683	22	20428											
KIAA1429	25962	broad.mit.edu	37	chr8	95507178	95507178	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atgacatcagcaagcacataGgcagtcctggaacaagaaaa	18	5	9	9	0	1	2	1	1	0	1	2	3	2	3	1	2	3	3	1	2	6	1			TCGA-WW-A8ZI-01A-11D-A377-08	TCGA-WW-A8ZI-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f032fb5f-6499-4cd4-82c5-fec6bdb5caad	e4ae4cc7-3295-4d4c-a51b-d65f5ad626d6	g.chr8:95507178G>C	ENST00000297591.5	-	20	4626	c.4551C>G	c.(4549-4551)gcC>gcG	p.A1517A	KIAA1429_ENST00000437199.1_3'UTR	NM_015496.4	NP_056311.2	Q69YN4	VIR_HUMAN	KIAA1429	1517					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(16)|lung(28)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	66	Breast(36;3.29e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00185)			CAAGCACATAGGCAGTCCTGG	0.368																																						ENST00000297591.5																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(16)|lung(28)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	66						c.(4549-4551)gcC>gcG		KIAA1429							114	119	117					8																	95507178		2203	4300	6503	SO:0001819	synonymous_variant	25962				mRNA processing|RNA splicing	nucleus		g.chr8:95507178G>C	AB037850	CCDS34923.1, CCDS47894.1	8q22.1	2008-11-25			ENSG00000164944	ENSG00000164944			24500	protein-coding gene	gene with protein product	"functional spliceosome-associated protein 121"					10718198	Standard	NM_015496		Approved	DKFZP434I116, fSAP121	uc003ygo.2	Q69YN4	OTTHUMG00000164426	ENST00000297591.5:c.4551C>G	8.37:g.95507178G>C						KIAA1429_ENST00000437199.1_3'UTR	p.A1517A	NM_015496.4	NP_056311.2	Q69YN4	VIR_HUMAN	BRCA - Breast invasive adenocarcinoma(8;0.00185)		20	4626	-	Breast(36;3.29e-05)		1517					Q2M1N0|Q6AHX9|Q6NT78|Q7Z6C7|Q8IXH4|Q9BTH4|Q9H9C9|Q9NWR3|Q9P2B8|Q9UFW1	Silent	SNP	ENST00000297591.5	37	c.4551C>G	CCDS34923.1																																																																																				0.368	KIAA1429-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378720.2	NM_015496		7	213	0	0	0	1	0	7	213					C	95507178	G	C	95507178	2	2	422	1	0	0	0	0	0	0	0	1	8231	987	35	5		5	KIAA1429	8	95507178	Silent	SNP	G	TCGA-WW-A8ZI-01A-11D-A377-08		95507178	50856844	23	20429											
KANK1	23189	broad.mit.edu	37	chr9	731264	731264	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagtttgttggcattaatggAgggtaaggaaagatggtggt	11	12	16	2	0	0	1	0	0	0	1	0	3	0	3	0	6	0	4	0	6	3	4			TCGA-WW-A8ZI-01A-11D-A377-08	TCGA-WW-A8ZI-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f032fb5f-6499-4cd4-82c5-fec6bdb5caad	e4ae4cc7-3295-4d4c-a51b-d65f5ad626d6	g.chr9:731264A>C	ENST00000382303.1	+	9	3655	c.3003A>C	c.(3001-3003)ggA>ggC	p.G1001G	KANK1_ENST00000489369.1_3'UTR|KANK1_ENST00000382293.3_Silent_p.G843G|KANK1_ENST00000382297.2_Silent_p.G1001G	NM_001256876.1	NP_001243805.1	Q14678	KANK1_HUMAN	KN motif and ankyrin repeat domains 1	1001					negative regulation of actin filament polymerization (GO:0030837)|negative regulation of cell migration (GO:0030336)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of lamellipodium morphogenesis (GO:2000393)|negative regulation of neuron projection development (GO:0010977)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of ruffle assembly (GO:1900028)|negative regulation of substrate adhesion-dependent cell spreading (GO:1900025)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of Wnt signaling pathway (GO:0030177)|positive regulation of wound healing (GO:0090303)|regulation of establishment of cell polarity (GO:2000114)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|ruffle membrane (GO:0032587)	beta-catenin binding (GO:0008013)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|stomach(4)|upper_aerodigestive_tract(1)	43		Lung NSC(10;9.84e-12)|all_lung(10;1.02e-11)|Breast(48;0.128)		Epithelial(6;0.000153)|OV - Ovarian serous cystadenocarcinoma(1;0.000358)|Lung(218;0.0222)		GCATTAATGGAGGGTAAGGAA	0.438																																						ENST00000382303.1																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|stomach(4)|upper_aerodigestive_tract(1)	43						c.(3001-3003)ggA>ggC		KN motif and ankyrin repeat domains 1							119	110	113					9																	731264		2203	4300	6503	SO:0001819	synonymous_variant	23189				negative regulation of actin filament polymerization	cytoplasm		g.chr9:731264A>C	AL833161	CCDS6441.1, CCDS34976.1	9p24.3	2013-01-10	2008-01-29	2008-01-29	ENSG00000107104	ENSG00000107104		"KN motif and ankyrin repeat domain containing", "Ankyrin repeat domain containing"	19309	protein-coding gene	gene with protein product		607704	"ankyrin repeat domain 15"	ANKRD15		12133830, 17996375, 19554261	Standard	NM_015158		Approved	KIAA0172, KANK	uc003zgn.2	Q14678	OTTHUMG00000019434	ENST00000382303.1:c.3003A>C	9.37:g.731264A>C						KANK1_ENST00000489369.1_3'UTR|KANK1_ENST00000382293.3_Silent_p.G843G|KANK1_ENST00000382297.2_Silent_p.G1001G	p.G1001G	NM_001256876.1	NP_001243805.1	Q14678	KANK1_HUMAN		Epithelial(6;0.000153)|OV - Ovarian serous cystadenocarcinoma(1;0.000358)|Lung(218;0.0222)	9	3655	+		Lung NSC(10;9.84e-12)|all_lung(10;1.02e-11)|Breast(48;0.128)	1001					A2A2W8|D3DRH3|Q5W0W0|Q8IY65|Q8WX74	Silent	SNP	ENST00000382303.1	37	c.3003A>C	CCDS34976.1																																																																																				0.438	KANK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051484.2	NM_015158		11	24	0	0	0	1	0	11	24					C	731264	A	C	731264	2	2	422	1	0	0	0	0	0	0	0	1	7976	291	11	5		5	KANK1	9	731264	Silent	SNP	A	TCGA-WW-A8ZI-01A-11D-A377-08		731264	140482167	24	20430											
USP20	10868	broad.mit.edu	37	chr9	132630711	132630711	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccgtcaccacggtcctccaGcccctgccggacgccaggta	6	5	10	20	4	1	0	1	0	0	0	3	1	3	1	8	3	2	1	8	3	1	1			TCGA-WW-A8ZI-01A-11D-A377-08	TCGA-WW-A8ZI-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f032fb5f-6499-4cd4-82c5-fec6bdb5caad	e4ae4cc7-3295-4d4c-a51b-d65f5ad626d6	g.chr9:132630711G>T	ENST00000315480.4	+	11	1276	c.1118G>T	c.(1117-1119)aGc>aTc	p.S373I	USP20_ENST00000372429.3_Missense_Mutation_p.S373I|USP20_ENST00000358355.1_Missense_Mutation_p.S373I			Q9Y2K6	UBP20_HUMAN	ubiquitin specific peptidase 20	373	USP.				endocytosis (GO:0006897)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|ubiquitin-dependent protein catabolic process (GO:0006511)	centrosome (GO:0005813)|cytoplasm (GO:0005737)	cysteine-type endopeptidase activity (GO:0004197)|G-protein coupled receptor binding (GO:0001664)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|large_intestine(3)|lung(4)|urinary_tract(1)	11		Ovarian(14;0.00556)				CGGTCCTCCAGCCCCTGCCGG	0.682																																						ENST00000315480.4																			0				breast(1)|endometrium(2)|large_intestine(3)|lung(4)|urinary_tract(1)	11						c.(1117-1119)aGc>aTc		ubiquitin specific peptidase 20							21	24	23					9																	132630711		1985	4100	6085	SO:0001583	missense	0				endocytosis|protein K48-linked deubiquitination|protein K63-linked deubiquitination|regulation of G-protein coupled receptor protein signaling pathway|ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm	cysteine-type endopeptidase activity|G-protein-coupled receptor binding|ubiquitin thiolesterase activity|zinc ion binding	g.chr9:132630711G>T	AB023220	CCDS43892.1	9q34.2	2014-07-15	2005-08-08		ENSG00000136878	ENSG00000136878		"Ubiquitin-specific peptidases"	12619	protein-coding gene	gene with protein product		615143	"ubiquitin specific protease 20"			12838346	Standard	NM_006676		Approved	KIAA1003	uc004byr.3	Q9Y2K6	OTTHUMG00000020793	ENST00000315480.4:c.1118G>T	9.37:g.132630711G>T	ENSP00000313811:p.Ser373Ile					USP20_ENST00000372429.3_Missense_Mutation_p.S373I|USP20_ENST00000358355.1_Missense_Mutation_p.S373I	p.S373I			Q9Y2K6	UBP20_HUMAN			11	1276	+		Ovarian(14;0.00556)	373					Q541F1|Q8IXQ1|Q96LG5|Q9UQN8|Q9UQP0	Missense_Mutation	SNP	ENST00000315480.4	37	c.1118G>T	CCDS43892.1	.	.	.	.	.	.	.	.	.	.	G	12.33	1.904683	0.33628	.	.	ENSG00000136878	ENST00000372429;ENST00000315480;ENST00000358355	T;T;T	0.17054	2.3;2.3;2.3	5.25	5.25	0.73442	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	2.363990	0.01152	N	0.006444	T	0.18341	0.0440	N	0.11201	0.11	0.51767	D	0.999933	P	0.50369	0.934	P	0.47864	0.559	T	0.34601	-0.9822	10	0.16896	T	0.51	.	16.0111	0.80404	0.0:0.0:1.0:0.0	.	373	Q9Y2K6	UBP20_HUMAN	I	373	ENSP00000361506:S373I;ENSP00000313811:S373I;ENSP00000351122:S373I	ENSP00000313811:S373I	S	+	2	0	USP20	131670532	1.000000	0.71417	0.997000	0.53966	0.018000	0.09664	6.255000	0.72466	2.459000	0.83118	0.561000	0.74099	AGC		0.682	USP20-003	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054604.2			3	43	1	0	1	1	1	3	43					T	132630711	G	T	132630711	3	4	422	1	0	0	0	0	1	0	0	0	17049	971	34	5	1152	5	USP20	9	132630711	Missense_Mutation	SNP	G	TCGA-WW-A8ZI-01A-11D-A377-08	131899447	132630711	8582720	25	20431											
CDH23	64072	broad.mit.edu	37	chr10	73437370	73437370	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgttggatgtcaacgacaacGtgcccaccttccagaaggat	11	9	10	11	2	1	1	1	0	0	1	2	4	2	3	3	2	3	1	3	2	3	2			TCGA-WW-A8ZI-01A-11D-A377-08	TCGA-WW-A8ZI-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f032fb5f-6499-4cd4-82c5-fec6bdb5caad	e4ae4cc7-3295-4d4c-a51b-d65f5ad626d6	g.chr10:73437370G>A	ENST00000224721.6	+	15	1692	c.1687G>A	c.(1687-1689)Gtg>Atg	p.V563M	CDH23_ENST00000299366.7_Missense_Mutation_p.V603M	NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	558	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium ion transport (GO:0006816)|calcium-dependent cell-cell adhesion (GO:0016339)|cytosolic calcium ion homeostasis (GO:0051480)|equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						CAACGACAACGTGCCCACCTT	0.632																																						ENST00000224721.6																			0				NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						c.(1687-1689)Gtg>Atg		cadherin-related 23							36	40	39					10																	73437370		2130	4247	6377	SO:0001583	missense	64072				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding	g.chr10:73437370G>A	AY010111	CCDS53540.1, CCDS73146.1	10q22.1	2014-08-08	2010-01-25		ENSG00000107736	ENSG00000107736		"Cadherins / Cadherin-related"	13733	protein-coding gene	gene with protein product	"cadherin-related family member 23"	605516	"cadherin related 23", "cadherin-like 23"	DFNB12, USH1D		11090341	Standard	NM_022124		Approved	CDHR23	uc001jrx.4	Q9H251	OTTHUMG00000019347	ENST00000224721.6:c.1687G>A	10.37:g.73437370G>A	ENSP00000224721:p.Val563Met					CDH23_ENST00000299366.7_Missense_Mutation_p.V603M	p.V563M	NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN			15	1692	+			558			Cadherin 6.		C4IXS9|F6U049|Q5QGS1|Q5QGS2|Q5QGS5|Q5QGS6|Q5XKN2|Q6UWW1|Q96JL3|Q9H4K9	Missense_Mutation	SNP	ENST00000224721.6	37	c.1687G>A		.	.	.	.	.	.	.	.	.	.	g	11.94	1.790048	0.31685	.	.	ENSG00000107736	ENST00000398860;ENST00000398855;ENST00000398828;ENST00000299366;ENST00000224721;ENST00000442677	.	.	.	5.49	2.6	0.31112	Cadherin (3);Cadherin conserved site (1);Cadherin-like (1);	0.769546	0.11509	N	0.556899	T	0.44329	0.1288	L	0.35341	1.055	0.80722	D	1	B;B;B	0.24132	0.098;0.029;0.016	B;B;B	0.15052	0.012;0.01;0.007	T	0.27938	-1.0059	9	0.44086	T	0.13	.	9.1499	0.36955	0.3449:0.0:0.6551:0.0	.	558;561;558	Q6P152;G3XCN8;Q9H251	.;.;CAD23_HUMAN	M	563;558;558;561;561;75	.	ENSP00000224721:V563M	V	+	1	0	CDH23	73107376	0.964000	0.33143	0.870000	0.34147	0.711000	0.40976	1.669000	0.37492	0.707000	0.31934	-0.222000	0.12452	GTG		0.632	CDH23-001	PUTATIVE	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000051227.4	NM_052836		8	6	0	0	0	1	0	8	6					A	73437370	G	A	73437370	3	1	422	1	0	0	0	0	1	0	0	0	3108	1145	40	1	1957	1	CDH23	10	73437370	Missense_Mutation	SNP	G	TCGA-WW-A8ZI-01A-11D-A377-08		73437370	62097377	26	20432											
CPSF7	79869	broad.mit.edu	37	chr11	61183967	61183967	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cagcagaatcactagaatctCgggaatgggcccgtggaggt	11	7	14	9	2	2	2	1	0	1	2	3	4	2	4	1	4	1	1	1	4	4	1			TCGA-WW-A8ZI-01A-11D-A377-08	TCGA-WW-A8ZI-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f032fb5f-6499-4cd4-82c5-fec6bdb5caad	e4ae4cc7-3295-4d4c-a51b-d65f5ad626d6	g.chr11:61183967C>T	ENST00000394888.4	-	6	747	c.575G>A	c.(574-576)cGa>cAa	p.R192Q	CPSF7_ENST00000340437.4_Missense_Mutation_p.R235Q|CPSF7_ENST00000448745.1_Missense_Mutation_p.R183Q|CPSF7_ENST00000439958.3_Missense_Mutation_p.R183Q	NM_001136040.2	NP_001129512.1	Q8N684	CPSF7_HUMAN	cleavage and polyadenylation specific factor 7, 59kDa	192					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA splicing, via spliceosome (GO:0000398)|protein tetramerization (GO:0051262)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	membrane (GO:0016020)|mRNA cleavage factor complex (GO:0005849)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.R192L(1)		breast(3)|central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|skin(2)|upper_aerodigestive_tract(1)	22						ACTAGAATCTCGGGAATGGGC	0.522																																						ENST00000340437.4																			1	Substitution - Missense(1)	p.R192L(1)	lung(1)	breast(3)|central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|skin(2)|upper_aerodigestive_tract(1)	22						c.(703-705)cGa>cAa		cleavage and polyadenylation specific factor 7, 59kDa							82	81	82					11																	61183967		2202	4299	6501	SO:0001583	missense	79869				mRNA 3'-end processing|nuclear mRNA splicing, via spliceosome|protein tetramerization|termination of RNA polymerase II transcription	mRNA cleavage factor complex	nucleotide binding|protein binding|RNA binding	g.chr11:61183967C>T		CCDS8006.2, CCDS44619.1, CCDS44620.1	11q12.2	2013-06-18			ENSG00000149532	ENSG00000149532		"RNA binding motif (RRM) containing"	30098	protein-coding gene	gene with protein product	"pre mRNA cleavage factor I, 59 kDa subunit", "cleavage factor Im complex 59 kDa subunit"					12477932	Standard	NM_024811		Approved	FLJ12529	uc001nrp.3	Q8N684	OTTHUMG00000168198	ENST00000394888.4:c.575G>A	11.37:g.61183967C>T	ENSP00000378352:p.Arg192Gln					CPSF7_ENST00000394888.4_Missense_Mutation_p.R192Q|CPSF7_ENST00000439958.3_Missense_Mutation_p.R183Q|CPSF7_ENST00000448745.1_Missense_Mutation_p.R183Q	p.R235Q	NM_024811.3	NP_079087.3	Q8N684	CPSF7_HUMAN			6	784	-			192			Pro-rich.		B3KU04|C9K0Q4|Q7Z3H9|Q9H025|Q9H9V1	Missense_Mutation	SNP	ENST00000394888.4	37	c.704G>A	CCDS44619.1	.	.	.	.	.	.	.	.	.	.	C	12.05	1.820588	0.32145	.	.	ENSG00000149532	ENST00000340437;ENST00000394888;ENST00000439958;ENST00000448745;ENST00000477890;ENST00000539952;ENST00000544585;ENST00000413232	T;T;T;T;T;T	0.75367	-0.93;-0.93;-0.93;-0.93;-0.93;-0.93	5.77	4.86	0.63082	.	0.251543	0.35013	N	0.003512	T	0.59142	0.2172	L	0.29908	0.895	0.80722	D	1	B;B;B;B	0.14012	0.005;0.003;0.009;0.005	B;B;B;B	0.06405	0.0;0.0;0.002;0.001	T	0.52381	-0.8583	10	0.12766	T	0.61	-1.6057	10.629	0.45525	0.0:0.8529:0.0:0.1471	.	183;192;235;183	B4DGF8;Q8N684;Q8N684-3;Q8N684-2	.;CPSF7_HUMAN;.;.	Q	235;192;183;183;183;183;183;183	ENSP00000397203:R183Q;ENSP00000407394:R183Q;ENSP00000437860:R183Q;ENSP00000438381:R183Q;ENSP00000437531:R183Q;ENSP00000393828:R183Q	ENSP00000345412:R235Q	R	-	2	0	CPSF7	60940543	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	2.308000	0.43690	1.449000	0.47699	-0.136000	0.14681	CGA		0.522	CPSF7-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000347835.2	NM_024811		56	62	0	0	0	1	0	56	62					T	61183967	C	T	61183967	3	4	422	1	0	0	0	0	1	0	0	0	3830	884	31	2	856	2	CPSF7	11	61183967	Missense_Mutation	SNP	C	TCGA-WW-A8ZI-01A-11D-A377-08		61183967	73822549	27	20433											
PC	5091	broad.mit.edu	37	chr11	66620019	66620019	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccagcagtgactggtgggcGtccctgaaggtcgtgtccat	6	9	15	11	2	0	2	0	2	0	0	3	2	2	2	3	3	1	1	3	3	1	0	rs577570512	byFrequency	TCGA-WW-A8ZI-01A-11D-A377-08	TCGA-WW-A8ZI-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f032fb5f-6499-4cd4-82c5-fec6bdb5caad	e4ae4cc7-3295-4d4c-a51b-d65f5ad626d6	g.chr11:66620019G>A	ENST00000393958.2	-	14	1809	c.1716C>T	c.(1714-1716)gaC>gaT	p.D572D	PC_ENST00000528224.1_5'Flank|PC_ENST00000393960.1_Silent_p.D572D|PC_ENST00000393955.2_Silent_p.D572D|PC_ENST00000529047.1_5'Flank	NM_000920.3	NP_000911.2	P11498	PYC_HUMAN	pyruvate carboxylase	572	Carboxyltransferase.|Substrate binding.				biotin metabolic process (GO:0006768)|carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|lipid metabolic process (GO:0006629)|oxaloacetate metabolic process (GO:0006107)|pyruvate metabolic process (GO:0006090)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin carboxylase activity (GO:0004075)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|pyruvate carboxylase activity (GO:0004736)	p.D572D(1)		cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Melanoma(852;0.0525)		Lung(977;0.153)|LUSC - Lung squamous cell carcinoma(976;0.227)	Biotin(DB00121)|Pyruvic acid(DB00119)	ACTGGTGGGCGTCCCTGAAGG	0.602													G|||	2	0.000399361	0.0015	0	5008	,	,		16892	0		0	False		,,,				2504	0					ENST00000393960.1																			1	Substitution - coding silent(1)	p.D572D(1)	lung(1)	cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(1714-1716)gaC>gaT		pyruvate carboxylase	Biotin(DB00121)|Pyruvic acid(DB00119)						64	63	63					11																	66620019		2200	4295	6495	SO:0001819	synonymous_variant	5091				gluconeogenesis|lipid biosynthetic process	mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|metal ion binding|pyruvate carboxylase activity	g.chr11:66620019G>A	U04641	CCDS8152.1	11q13.4-q13.5	2012-07-11			ENSG00000173599	ENSG00000173599	6.4.1.1		8636	protein-coding gene	gene with protein product		608786				6548474	Standard	NM_022172		Approved	PCB	uc001ojn.1	P11498	OTTHUMG00000167099	ENST00000393958.2:c.1716C>T	11.37:g.66620019G>A						PC_ENST00000393958.2_Silent_p.D572D|PC_ENST00000393955.2_Silent_p.D572D	p.D572D	NM_001040716.1	NP_001035806.1	P11498	PYC_HUMAN		Lung(977;0.153)|LUSC - Lung squamous cell carcinoma(976;0.227)	15	1997	-		Melanoma(852;0.0525)	572			Carboxyltransferase.|Substrate binding.		B4DN00|Q16705	Silent	SNP	ENST00000393958.2	37	c.1716C>T	CCDS8152.1																																																																																				0.602	PC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393115.1	NM_001040716		8	87	0	0	0	1	0	8	87					A	66620019	G	A	66620019	2	1	422	1	0	0	0	0	0	0	0	1	11497	1136	40	1		1	PC	11	66620019	Silent	SNP	G	TCGA-WW-A8ZI-01A-11D-A377-08	5436052	66620019	68386497	28	20434											
NUMA1	4926	broad.mit.edu	37	chr11	71718448	71718448	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaggctggttctccagggacGctggtgccgtctggctgggt	3	10	18	10	2	2	0	0	0	2	0	3	2	2	1	2	6	1	4	2	6	0	1			TCGA-WW-A8ZI-01A-11D-A377-08	TCGA-WW-A8ZI-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f032fb5f-6499-4cd4-82c5-fec6bdb5caad	e4ae4cc7-3295-4d4c-a51b-d65f5ad626d6	g.chr11:71718448G>A	ENST00000393695.3	-	21	5581	c.5250C>T	c.(5248-5250)agC>agT	p.S1750S	NUMA1_ENST00000358965.6_Silent_p.S1736S|NUMA1_ENST00000351960.6_Silent_p.S614S	NM_006185.2	NP_006176.2			nuclear mitotic apparatus protein 1											central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	65						CTCCAGGGACGCTGGTGCCGT	0.577			T	RARA	APL																																	ENST00000393695.3				Dom	yes		11	11q13	4926	T	nuclear mitotic apparatus protein 1			L	RARA		APL		0				central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	65						c.(5248-5250)agC>agT		nuclear mitotic apparatus protein 1							42	43	42					11																	71718448		2200	4293	6493	SO:0001819	synonymous_variant	0				G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization	chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole	protein binding|structural molecule activity	g.chr11:71718448G>A	Z11584	CCDS31633.1, CCDS66156.1	11q13	2008-02-05				ENSG00000137497			8059	protein-coding gene	gene with protein product		164009				8406455	Standard	NM_006185		Approved		uc001orl.1	Q14980		ENST00000393695.3:c.5250C>T	11.37:g.71718448G>A						NUMA1_ENST00000351960.6_Silent_p.S614S|NUMA1_ENST00000358965.6_Silent_p.S1736S	p.S1750S	NM_006185.2	NP_006176.2	Q14980	NUMA1_HUMAN			21	5581	-			1750						Silent	SNP	ENST00000393695.3	37	c.5250C>T	CCDS31633.1	.	.	.	.	.	.	.	.	.	.	g	8.584	0.883065	0.17467	.	.	ENSG00000137497	ENST00000541584	.	.	.	4.58	-2.45	0.06481	.	.	.	.	.	T	0.54565	0.1866	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.50541	-0.8816	4	.	.	.	.	9.8051	0.40789	0.5604:0.0:0.4396:0.0	.	.	.	.	V	599	.	.	A	-	2	0	NUMA1	71396096	0.001000	0.12720	0.768000	0.31515	0.909000	0.53808	-0.675000	0.05227	-0.566000	0.06054	-0.993000	0.02533	GCG		0.577	NUMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395769.1			3	29	0	0	0	1	0	3	29					A	71718448	G	A	71718448	2	1	422	1	0	0	0	0	0	0	0	1	10750	1078	38	1		1	NUMA1	11	71718448	Silent	SNP	G	TCGA-WW-A8ZI-01A-11D-A377-08	5098429	71718448	63288068	29	20435											
CTSC	1075	broad.mit.edu	37	chr11	88068157	88068157	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acacaatctcaaagccttggTtgtaaatgatggtgaaatgg	14	11	10	6	0	1	2	1	2	1	0	2	2	1	2	1	3	1	2	1	3	5	3			TCGA-WW-A8ZI-01A-11D-A377-08	TCGA-WW-A8ZI-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f032fb5f-6499-4cd4-82c5-fec6bdb5caad	e4ae4cc7-3295-4d4c-a51b-d65f5ad626d6	g.chr11:88068157T>A	ENST00000227266.5	-	2	380	c.266A>T	c.(265-267)aAc>aTc	p.N89I	CTSC_ENST00000393301.4_5'UTR|CTSC_ENST00000524463.1_Missense_Mutation_p.N89I|CTSC_ENST00000529974.1_Missense_Mutation_p.N89I	NM_001814.4	NP_001805	P53634	CATC_HUMAN	cathepsin C	89					aging (GO:0007568)|immune response (GO:0006955)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of proteolysis involved in cellular protein catabolic process (GO:1903052)|proteolysis (GO:0006508)|response to organic substance (GO:0010033)|T cell mediated cytotoxicity (GO:0001913)	endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|lysosome (GO:0005764)|membrane (GO:0016020)	chaperone binding (GO:0051087)|chloride ion binding (GO:0031404)|cysteine-type peptidase activity (GO:0008234)|peptidase activator activity involved in apoptotic process (GO:0016505)|phosphatase binding (GO:0019902)|serine-type endopeptidase activity (GO:0004252)			large_intestine(7)|lung(8)|ovary(2)|prostate(3)|skin(2)	22		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				AAAGCCTTGGTTGTAAATGAT	0.363																																						ENST00000524463.1																			0				large_intestine(7)|lung(8)|ovary(2)|prostate(3)|skin(2)	22						c.(265-267)aAc>aTc		cathepsin C							131	121	125					11																	88068157		2201	4299	6500	SO:0001583	missense	1075				immune response	lysosome	cysteine-type endopeptidase activity	g.chr11:88068157T>A	AK223038	CCDS8282.1, CCDS31654.1, CCDS44693.1	11q14.2	2014-09-17			ENSG00000109861	ENSG00000109861	3.4.14.1	"Cathepsins"	2528	protein-coding gene	gene with protein product	"dipeptidyl peptidase 1"	602365		PLS, PALS		7649281, 9092576	Standard	NM_148170		Approved	DPP1	uc001pck.4	P53634	OTTHUMG00000167290	ENST00000227266.5:c.266A>T	11.37:g.88068157T>A	ENSP00000227266:p.Asn89Ile					CTSC_ENST00000227266.5_Missense_Mutation_p.N89I|CTSC_ENST00000529974.1_Missense_Mutation_p.N89I|CTSC_ENST00000393301.4_5'UTR	p.N89I	NM_001114173.1|NM_148170.3	NP_001107645.1|NP_680475.1	P53634	CATC_HUMAN			2	354	-		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)	89					A8K7V2|B5MDD5|Q2HIY8|Q53G93|Q71E75|Q71E76|Q7M4N9|Q7Z3G7|Q7Z5U7|Q8WY99|Q8WYA7|Q8WYA8	Missense_Mutation	SNP	ENST00000227266.5	37	c.266A>T	CCDS8282.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	27.9|27.9	4.870067|4.870067	0.91587|0.91587	.|.	.|.	ENSG00000109861|ENSG00000109861	ENST00000393302;ENST00000227266;ENST00000524463;ENST00000529974|ENST00000527018	D;D;D|.	0.92249|.	-3.0;-3.0;-3.0|.	5.84|5.84	5.84|5.84	0.93424|0.93424	Cathepsin C exclusion (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.78188|0.78188	0.4244|0.4244	M|M	0.84846|0.84846	2.72|2.72	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	0.999;0.999;1.0|.	D;D;D|.	0.87578|.	0.996;0.982;0.998|.	T|T	0.80522|0.80522	-0.1345|-0.1345	9|5	.|.	.|.	.|.	.|.	13.7534|13.7534	0.62921|0.62921	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	89;89;89|.	Q2HIY8;P53634-2;P53634|.	.;.;CATC_HUMAN|.	I|S	72;89;89;89|46	ENSP00000227266:N89I;ENSP00000432541:N89I;ENSP00000433539:N89I|.	.|.	N|T	-|-	2|1	0|0	CTSC|CTSC	87707805|87707805	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.988000|0.988000	0.76386|0.76386	7.097000|7.097000	0.76967|0.76967	2.228000|2.228000	0.72767|0.72767	0.533000|0.533000	0.62120|0.62120	AAC|ACC		0.363	CTSC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394019.2	NM_001814		29	31	0	0	0	1	0	29	31					A	88068157	T	A	88068157	3	1	422	1	0	0	0	0	1	0	0	0	4031	1725	60	5	1280	5	CTSC	11	88068157	Missense_Mutation	SNP	T	TCGA-WW-A8ZI-01A-11D-A377-08	16349709	88068157	46938359	30	20436											
FBXL14	144699	broad.mit.edu	37	chr12	1702154	1702154	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tgcagccgtacaggtctatgCcggtgagttggctcaggtgc	6	10	15	10	2	2	1	1	1	1	0	2	1	2	1	2	4	5	4	2	4	2	3			TCGA-WW-A8ZI-01A-11D-A377-08	TCGA-WW-A8ZI-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f032fb5f-6499-4cd4-82c5-fec6bdb5caad	e4ae4cc7-3295-4d4c-a51b-d65f5ad626d6	g.chr12:1702154C>T	ENST00000339235.3	-	1	1177	c.1079G>A	c.(1078-1080)gGc>gAc	p.G360D	FBXL14_ENST00000543278.1_5'UTR|WNT5B_ENST00000537031.1_Intron	NM_152441.2	NP_689654.1	Q8N1E6	FXL14_HUMAN	F-box and leucine-rich repeat protein 14	360					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	ubiquitin-protein transferase activity (GO:0004842)			endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)	8	Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.00115)			CAGGTCTATGCCGGTGAGTTG	0.627																																						ENST00000339235.3																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)	8						c.(1078-1080)gGc>gAc		F-box and leucine-rich repeat protein 14							130	112	118					12																	1702154		2203	4300	6503	SO:0001583	missense	144699					cytoplasm		g.chr12:1702154C>T	BC028132	CCDS8509.1	12p13.33	2011-06-09			ENSG00000171823	ENSG00000171823		"F-boxes / Leucine-rich repeats"	28624	protein-coding gene	gene with protein product		609081				12477932	Standard	NM_152441		Approved	MGC40195, Fbl14	uc001qjh.3	Q8N1E6	OTTHUMG00000090369	ENST00000339235.3:c.1079G>A	12.37:g.1702154C>T	ENSP00000344855:p.Gly360Asp					FBXL14_ENST00000543278.1_5'UTR|WNT5B_ENST00000537031.1_Intron	p.G360D	NM_152441.2	NP_689654.1	Q8N1E6	FXL14_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00115)		1	1177	-	Ovarian(42;0.107)		360						Missense_Mutation	SNP	ENST00000339235.3	37	c.1079G>A	CCDS8509.1	.	.	.	.	.	.	.	.	.	.	C	13.18	2.160134	0.38119	.	.	ENSG00000171823	ENST00000339235	T	0.02369	4.32	4.85	3.95	0.45737	.	0.060642	0.64402	D	0.000002	T	0.01695	0.0054	N	0.04686	-0.185	0.58432	D	0.999999	P	0.39282	0.666	B	0.35859	0.212	T	0.66135	-0.5999	10	0.13108	T	0.6	.	14.5131	0.67802	0.1479:0.8521:0.0:0.0	.	360	Q8N1E6	FXL14_HUMAN	D	360	ENSP00000344855:G360D	ENSP00000344855:G360D	G	-	2	0	FBXL14	1572415	1.000000	0.71417	0.997000	0.53966	0.996000	0.88848	7.586000	0.82596	1.222000	0.43521	0.650000	0.86243	GGC		0.627	FBXL14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206741.1	NM_152441		4	149	0	0	0	1	0	4	149					T	1702154	C	T	1702154	3	4	422	1	0	0	0	0	1	0	0	0	5710	739	26	3	185	3	FBXL14	12	1702154	Missense_Mutation	SNP	C	TCGA-WW-A8ZI-01A-11D-A377-08		1702154	132149741	31	20437											
GRIN2B	2904	broad.mit.edu	37	chr12	13716213	13716213	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgtctttcaggcttacgctgCgcggggccagggcggcttct	3	11	15	12	4	3	0	1	0	2	0	3	0	3	0	1	5	2	3	1	5	1	3			TCGA-WW-A8ZI-01A-11D-A377-08	TCGA-WW-A8ZI-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f032fb5f-6499-4cd4-82c5-fec6bdb5caad	e4ae4cc7-3295-4d4c-a51b-d65f5ad626d6	g.chr12:13716213C>T	ENST00000609686.1	-	13	4168	c.3959G>A	c.(3958-3960)cGc>cAc	p.R1320H		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	1320					behavioral fear response (GO:0001662)|behavioral response to pain (GO:0048266)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|glutamate receptor signaling pathway (GO:0007215)|in utero embryonic development (GO:0001701)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning (GO:0007612)|learning or memory (GO:0007611)|memory (GO:0007613)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of synaptic plasticity (GO:0048167)|response to ethanol (GO:0045471)|sensory organ development (GO:0007423)|startle response (GO:0001964)|suckling behavior (GO:0001967)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Haloperidol(DB00502)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	GCTTACGCTGCGCGGGGCCAG	0.582																																						ENST00000279593.3																			0				NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143						c.(3958-3960)cGc>cAc		glutamate receptor, ionotropic, N-methyl D-aspartate 2B	Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)						68	75	73					12																	13716213		2203	4300	6503	SO:0001583	missense	2904				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	g.chr12:13716213C>T		CCDS8662.1	12p13.1	2014-07-16			ENSG00000273079			"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4586	protein-coding gene	gene with protein product		138252		NMDAR2B		1350383	Standard	NM_000834		Approved	GluN2B	uc001rbt.2	Q13224	OTTHUMG00000137373	ENST00000609686.1:c.3959G>A	12.37:g.13716213C>T	ENSP00000477455:p.Arg1320His						p.R1320H	NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN			13	4168	-			1320					Q12919|Q13220|Q13225|Q14CU4|Q9UM56	Missense_Mutation	SNP	ENST00000609686.1	37	c.3959G>A	CCDS8662.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.956710	0.73902	.	.	ENSG00000150086	ENST00000279593	T	0.45276	0.9	4.81	4.81	0.61882	Glutamate [NMDA] receptor, epsilon subunit, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.63628	0.2527	M	0.61703	1.905	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.66748	-0.5845	10	0.87932	D	0	.	18.436	0.90646	0.0:1.0:0.0:0.0	.	1320	Q13224	NMDE2_HUMAN	H	1320	ENSP00000279593:R1320H	ENSP00000279593:R1320H	R	-	2	0	GRIN2B	13607480	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	7.273000	0.78527	2.637000	0.89404	0.563000	0.77884	CGC		0.582	GRIN2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268014.2			49	48	0	0	0	1	0	49	48					T	13716213	C	T	13716213	3	4	422	1	0	0	0	0	1	0	0	0	6780	768	27	1	499	1	GRIN2B	12	13716213	Missense_Mutation	SNP	C	TCGA-WW-A8ZI-01A-11D-A377-08	12014059	13716213	120135682	32	20438											
TWF1	5756	broad.mit.edu	37	chr12	44190803	44190803	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctaattacatccatttgtagTtgtctttctacaatttctag	10	19	4	8	0	3	0	0	0	3	0	4	0	4	0	1	0	2	2	1	0	6	9			TCGA-WW-A8ZI-01A-11D-A377-08	TCGA-WW-A8ZI-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f032fb5f-6499-4cd4-82c5-fec6bdb5caad	e4ae4cc7-3295-4d4c-a51b-d65f5ad626d6	g.chr12:44190803T>A	ENST00000395510.2	-	8	987	c.858A>T	c.(856-858)caA>caT	p.Q286H	TWF1_ENST00000325127.4_Missense_Mutation_p.Q320H|TWF1_ENST00000548315.1_Missense_Mutation_p.Q293H|TWF1_ENST00000552521.1_Missense_Mutation_p.Q188H	NM_001242397.1|NM_002822.4	NP_001229326.1|NP_002813.3	Q12792	TWF1_HUMAN	twinfilin actin-binding protein 1	286	ADF-H 2. {ECO:0000255|PROSITE- ProRule:PRU00599}.				barbed-end actin filament capping (GO:0051016)|negative regulation of actin filament polymerization (GO:0030837)|peptidyl-tyrosine phosphorylation (GO:0018108)|regulation of actin phosphorylation (GO:0043538)|sequestering of actin monomers (GO:0042989)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|myofibril (GO:0030016)|perinuclear region of cytoplasm (GO:0048471)|ruffle membrane (GO:0032587)	actin monomer binding (GO:0003785)|ATP binding (GO:0005524)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			endometrium(2)|large_intestine(6)|lung(4)|prostate(1)|stomach(1)	14	all_cancers(12;0.00125)	Lung NSC(34;0.0804)|all_lung(34;0.181)		GBM - Glioblastoma multiforme(48;0.0474)		CCATTTGTAGTTGTCTTTCTA	0.338																																						ENST00000395510.2																			0				endometrium(2)|large_intestine(6)|lung(4)|prostate(1)|stomach(1)	14						c.(856-858)caA>caT		twinfilin actin-binding protein 1							81	86	84					12																	44190803		2203	4299	6502	SO:0001583	missense	5756					actin cytoskeleton|cytoplasm	actin binding|protein tyrosine kinase activity	g.chr12:44190803T>A	U02680	CCDS31780.1, CCDS31780.2, CCDS55818.1	12q12	2013-04-25	2013-04-25	2006-11-13					9620	protein-coding gene	gene with protein product		610932	"protein tyrosine kinase 9", "PTK9 protein tyrosine kinase 9", "twinfilin, actin-binding protein, homolog 1 (Drosophila)"	PTK9		7507208	Standard	NM_002822		Approved	A6	uc001rob.3	Q12792		ENST00000395510.2:c.858A>T	12.37:g.44190803T>A	ENSP00000378886:p.Gln286His					TWF1_ENST00000548315.1_Missense_Mutation_p.Q293H|TWF1_ENST00000325127.4_Missense_Mutation_p.Q320H|TWF1_ENST00000552521.1_Missense_Mutation_p.Q188H	p.Q286H	NM_001242397.1|NM_002822.4	NP_001229326.1|NP_002813.3	Q12792	TWF1_HUMAN		GBM - Glioblastoma multiforme(48;0.0474)	8	987	-	all_cancers(12;0.00125)	Lung NSC(34;0.0804)|all_lung(34;0.181)	286			ADF-H 2.		A8K5A8|B3KXS6|B4DLX9|Q59G07|Q5U0B1|Q6FHJ1|Q6FHL6|Q6NUK9|Q86XL6|Q8TCD3	Missense_Mutation	SNP	ENST00000395510.2	37	c.858A>T	CCDS31780.2	.	.	.	.	.	.	.	.	.	.	T	10.81	1.455211	0.26161	.	.	ENSG00000151239	ENST00000552521;ENST00000395510;ENST00000325127;ENST00000548315	T;T;T;T	0.32515	1.45;2.2;2.19;2.2	5.55	1.81	0.25067	Actin-binding, cofilin/tropomyosin type (3);	0.604283	0.18655	N	0.134881	T	0.19087	0.0458	N	0.12746	0.255	0.38505	D	0.948326	B;B	0.30114	0.227;0.269	B;B	0.37267	0.245;0.194	T	0.10753	-1.0616	10	0.35671	T	0.21	-21.4054	9.3144	0.37926	0.0:0.3823:0.0:0.6177	.	293;286	Q12792-3;Q12792	.;TWF1_HUMAN	H	188;286;320;293	ENSP00000448750:Q188H;ENSP00000378886:Q286H;ENSP00000321058:Q320H;ENSP00000449428:Q293H	ENSP00000321058:Q320H	Q	-	3	2	TWF1	42477070	0.005000	0.15991	0.999000	0.59377	0.994000	0.84299	-1.188000	0.03064	0.069000	0.16605	0.482000	0.46254	CAA		0.338	TWF1-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403956.1	NM_002822		31	36	0	0	0	1	0	31	36					A	44190803	T	A	44190803	3	1	422	1	0	0	0	0	1	0	0	0	16778	1722	60	5	202	5	TWF1	12	44190803	Missense_Mutation	SNP	T	TCGA-WW-A8ZI-01A-11D-A377-08	30474590	44190803	89661092	33	20439											
NAV3	89795	broad.mit.edu	37	chr12	78415542	78415542	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcagggcacattcagaaaaTgaaggtaccgctttaccatc	13	10	8	10	1	2	2	2	1	0	1	3	2	2	2	2	2	2	3	2	2	5	5	rs200251820	byFrequency	TCGA-WW-A8ZI-01A-11D-A377-08	TCGA-WW-A8ZI-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f032fb5f-6499-4cd4-82c5-fec6bdb5caad	e4ae4cc7-3295-4d4c-a51b-d65f5ad626d6	g.chr12:78415542T>A	ENST00000397909.2	+	9	2096	c.1923T>A	c.(1921-1923)aaT>aaA	p.N641K	NAV3_ENST00000266692.7_Missense_Mutation_p.N641K|NAV3_ENST00000536525.2_Missense_Mutation_p.N641K|NAV3_ENST00000228327.6_Missense_Mutation_p.N641K			Q8IVL0	NAV3_HUMAN	neuron navigator 3	641						membrane (GO:0016020)|nuclear envelope (GO:0005635)				NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						ATTCAGAAAATGAAGGTACCG	0.388										HNSCC(70;0.22)																												ENST00000397909.2																			0				NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						c.(1921-1923)aaT>aaA		neuron navigator 3							100	100	100					12																	78415542		1986	4183	6169	SO:0001583	missense	89795					nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity	g.chr12:78415542T>A	AB023155	CCDS41815.1, CCDS66432.1	12q14.3	2008-08-05				ENSG00000067798			15998	protein-coding gene	gene with protein product	"pore membrane and/or filament interacting like protein 1", "steerin 3"	611629				12079279, 12062803	Standard	XM_005269215		Approved	KIAA0938, POMFIL1	uc001syo.3	Q8IVL0	OTTHUMG00000170001	ENST00000397909.2:c.1923T>A	12.37:g.78415542T>A	ENSP00000381007:p.Asn641Lys	HNSCC(70;0.22)				NAV3_ENST00000266692.7_Missense_Mutation_p.N641K|NAV3_ENST00000228327.6_Missense_Mutation_p.N641K|NAV3_ENST00000536525.2_Missense_Mutation_p.N641K	p.N641K			Q8IVL0	NAV3_HUMAN			9	2096	+			641					Q8NFW7|Q9Y2E7	Missense_Mutation	SNP	ENST00000397909.2	37	c.1923T>A		.	.	.	.	.	.	.	.	.	.	T	17.32	3.359343	0.61403	.	.	ENSG00000067798	ENST00000549464;ENST00000536525;ENST00000397909;ENST00000228327;ENST00000266692	T;T;T;T;T	0.14516	2.5;2.5;2.5;2.5;2.5	5.46	5.46	0.80206	.	0.000000	0.42821	U	0.000655	T	0.15305	0.0369	L	0.46157	1.445	0.80722	D	1	D;P	0.53151	0.958;0.59	B;B	0.42692	0.395;0.187	T	0.04678	-1.0934	10	0.25751	T	0.34	-15.8882	15.5544	0.76180	0.0:0.0:0.0:1.0	.	641;641	Q8IVL0;Q8IVL0-2	NAV3_HUMAN;.	K	641	ENSP00000446628:N641K;ENSP00000446132:N641K;ENSP00000381007:N641K;ENSP00000228327:N641K;ENSP00000266692:N641K	ENSP00000228327:N641K	N	+	3	2	NAV3	76939673	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	3.128000	0.50492	2.083000	0.62718	0.533000	0.62120	AAT		0.388	NAV3-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000406812.1	NM_001024383		4	91	0	0	0	1	0	4	91					A	78415542	T	A	78415542	3	1	422	1	0	0	0	0	1	0	0	0	10185	1461	51	5	1957	5	NAV3	12	78415542	Missense_Mutation	SNP	T	TCGA-WW-A8ZI-01A-11D-A377-08	34224739	78415542	55436353	34	20440											
PSMB11	122706	broad.mit.edu	37	chr14	23511486	23511486	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccctgacacccagggaccaTcacctcacctgcctcgggct	7	6	8	20	1	2	1	2	1	0	0	3	2	2	2	7	2	1	1	7	2	0	0			TCGA-WW-A8ZI-01A-11D-A377-08	TCGA-WW-A8ZI-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f032fb5f-6499-4cd4-82c5-fec6bdb5caad	e4ae4cc7-3295-4d4c-a51b-d65f5ad626d6	g.chr14:23511486T>A	ENST00000408907.2	+	1	111	c.52T>A	c.(52-54)Tca>Aca	p.S18T		NM_001099780.1	NP_001093250.1	A5LHX3	PSB11_HUMAN	proteasome (prosome, macropain) subunit, beta type, 11	18					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleus (GO:0005634)|proteasome core complex (GO:0005839)	threonine-type endopeptidase activity (GO:0004298)			endometrium(1)|kidney(2)|lung(4)	7	all_cancers(95;3.3e-05)			GBM - Glioblastoma multiforme(265;0.00643)		CCAGGGACCATCACCTCACCT	0.622																																						ENST00000408907.2																			0				endometrium(1)|kidney(2)|lung(4)	7						c.(52-54)Tca>Aca		proteasome (prosome, macropain) subunit, beta type, 11							76	87	83					14																	23511486		2094	4218	6312	SO:0001583	missense	122706				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|mRNA metabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome core complex	threonine-type endopeptidase activity	g.chr14:23511486T>A		CCDS41923.1	14q11.2	2008-01-31				ENSG00000222028			31963	protein-coding gene	gene with protein product		611137				17540904	Standard	NM_001099780		Approved	beta5t	uc010ake.1	A5LHX3		ENST00000408907.2:c.52T>A	14.37:g.23511486T>A	ENSP00000386212:p.Ser18Thr						p.S18T	NM_001099780.1	NP_001093250.1	A5LHX3	PSB11_HUMAN		GBM - Glioblastoma multiforme(265;0.00643)	1	111	+	all_cancers(95;3.3e-05)		18						Missense_Mutation	SNP	ENST00000408907.2	37	c.52T>A	CCDS41923.1	.	.	.	.	.	.	.	.	.	.	T	8.718	0.913762	0.17907	.	.	ENSG00000222028	ENST00000408907	T	0.28454	1.61	4.61	2.23	0.28157	.	1.144360	0.06705	N	0.772145	T	0.20210	0.0486	L	0.40543	1.245	0.09310	N	1	B	0.31318	0.319	B	0.24155	0.051	T	0.25047	-1.0143	10	0.15066	T	0.55	-0.3926	4.0328	0.09716	0.0:0.1078:0.2166:0.6756	.	18	A5LHX3	PSB11_HUMAN	T	18	ENSP00000386212:S18T	ENSP00000386212:S18T	S	+	1	0	PSMB11	22581326	0.000000	0.05858	0.002000	0.10522	0.717000	0.41224	0.094000	0.15107	0.838000	0.34948	0.533000	0.62120	TCA		0.622	PSMB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408294.1	NM_001099780		55	75	0	0	0	1	0	55	75					A	23511486	T	A	23511486	3	1	422	1	0	0	0	0	1	0	0	0	12676	1435	50	5	54	5	PSMB11	14	23511486	Missense_Mutation	SNP	T	TCGA-WW-A8ZI-01A-11D-A377-08		23511486	83838054	35	20441											
PCNX	22990	broad.mit.edu	37	chr14	71555961	71555961	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctatttaaaggagatttcCgtatttcttcaattcgagat	11	16	6	8	2	2	2	1	0	1	2	4	4	3	2	2	1	0	1	2	1	5	8			TCGA-WW-A8ZI-01A-11D-A377-08	TCGA-WW-A8ZI-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f032fb5f-6499-4cd4-82c5-fec6bdb5caad	e4ae4cc7-3295-4d4c-a51b-d65f5ad626d6	g.chr14:71555961C>T	ENST00000304743.2	+	30	5937	c.5491C>T	c.(5491-5493)Cgt>Tgt	p.R1831C	PCNX_ENST00000439984.3_Missense_Mutation_p.R1720C|PCNX_ENST00000238570.5_Missense_Mutation_p.R1759C	NM_014982.2	NP_055797.2	Q96RV3	PCX1_HUMAN	pecanex homolog (Drosophila)	1831						integral component of membrane (GO:0016021)				NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1)	87			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)		AGGAGATTTCCGTATTTCTTC	0.373																																						ENST00000304743.2																			0				NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1)	87						c.(5491-5493)Cgt>Tgt		pecanex homolog (Drosophila)							193	179	183					14																	71555961		2203	4300	6503	SO:0001583	missense	22990					integral to membrane		g.chr14:71555961C>T	AF233450, AB018348	CCDS9806.1	14q24.2	2014-07-03							19740	protein-coding gene	gene with protein product			"pecanex-like 1 (Drosophila)"	PCNXL1		9244429, 15777640	Standard	NM_014982		Approved	KIAA0995, KIAA0805, pecanex	uc001xmo.2	Q96RV3		ENST00000304743.2:c.5491C>T	14.37:g.71555961C>T	ENSP00000304192:p.Arg1831Cys					PCNX_ENST00000238570.5_Missense_Mutation_p.R1759C|PCNX_ENST00000439984.3_Missense_Mutation_p.R1720C	p.R1831C	NM_014982.2	NP_055797.2	Q96RV3	PCX1_HUMAN	KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)	30	5937	+			1831					B2RTR6|O94897|Q96AI7|Q9Y2J9	Missense_Mutation	SNP	ENST00000304743.2	37	c.5491C>T	CCDS9806.1	.	.	.	.	.	.	.	.	.	.	C	34	5.339000	0.95783	.	.	ENSG00000100731	ENST00000304743;ENST00000238570;ENST00000439984	T;T;T	0.51325	0.71;0.71;0.71	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	T	0.76688	0.4022	M	0.90369	3.11	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.997;0.998;0.999	T	0.80251	-0.1460	10	0.87932	D	0	.	20.3627	0.98863	0.0:1.0:0.0:0.0	.	1759;1720;1831	Q96RV3-3;B2RTR6;Q96RV3	.;.;PCX1_HUMAN	C	1831;1759;1720	ENSP00000304192:R1831C;ENSP00000238570:R1759C;ENSP00000396617:R1720C	ENSP00000238570:R1759C	R	+	1	0	PCNX	70625714	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.727000	0.68523	2.885000	0.99019	0.655000	0.94253	CGT		0.373	PCNX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412479.1	NM_014982		45	53	0	0	0	1	0	45	53					T	71555961	C	T	71555961	3	4	422	1	0	0	0	0	1	0	0	0	11591	652	23	2	5609	2	PCNX	14	71555961	Missense_Mutation	SNP	C	TCGA-WW-A8ZI-01A-11D-A377-08	48044475	71555961	35793579	36	20442											
MPRIP	23164	broad.mit.edu	37	chr17	17075149	17075149	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gagaagagaaagaccgcctcCtagccgaggagacagcggcc	13	2	14	12	3	0	4	0	0	0	4	1	8	1	4	5	2	2	0	5	2	3	1			TCGA-WW-A8ZI-01A-11D-A377-08	TCGA-WW-A8ZI-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f032fb5f-6499-4cd4-82c5-fec6bdb5caad	e4ae4cc7-3295-4d4c-a51b-d65f5ad626d6	g.chr17:17075149C>G	ENST00000341712.4	+	16	2281	c.2281C>G	c.(2281-2283)Cta>Gta	p.L761V	RP11-45M22.3_ENST00000584203.1_RNA|MPRIP_ENST00000444976.1_Missense_Mutation_p.L723V|MPRIP_ENST00000395804.3_Missense_Mutation_p.L761V|RNU6-767P_ENST00000384132.1_RNA|MPRIP_ENST00000395811.5_Missense_Mutation_p.L761V			Q6WCQ1	MPRIP_HUMAN	myosin phosphatase Rho interacting protein	761	Interaction with RHOA.					actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)				biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	31						AGACCGCCTCCTAGCCGAGGA	0.557																																						ENST00000395811.5																			0				biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	31						c.(2281-2283)Cta>Gta		myosin phosphatase Rho interacting protein							50	57	55					17																	17075149		2203	4300	6503	SO:0001583	missense	23164					cytoplasm|cytoskeleton	actin binding	g.chr17:17075149C>G	BC014102	CCDS32578.1, CCDS42268.1	17p11.2	2013-01-10			ENSG00000133030	ENSG00000133030		"Pleckstrin homology (PH) domain containing"	30321	protein-coding gene	gene with protein product	"Rho interacting protein 3"	612935				10048485	Standard	NM_201274		Approved	RHOIP3, M-RIP, p116Rip	uc002gqy.2	Q6WCQ1	OTTHUMG00000059276	ENST00000341712.4:c.2281C>G	17.37:g.17075149C>G	ENSP00000342379:p.Leu761Val					MPRIP_ENST00000395804.3_Missense_Mutation_p.L761V|RP11-45M22.3_ENST00000584203.1_RNA|MPRIP_ENST00000341712.4_Missense_Mutation_p.L761V|MPRIP_ENST00000444976.1_Missense_Mutation_p.L723V	p.L761V	NM_015134.3|NM_201274.3	NP_055949.2|NP_958431.2	Q6WCQ1	MPRIP_HUMAN			16	2370	+			761			Interaction with RHOA.		Q3KQZ5|Q5FB94|Q6DHW2|Q7Z5Y2|Q8N390|Q96G40	Missense_Mutation	SNP	ENST00000341712.4	37	c.2281C>G	CCDS32578.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.9|20.9	4.073119|4.073119	0.76415|0.76415	.|.	.|.	ENSG00000133030|ENSG00000133030	ENST00000444976;ENST00000395811;ENST00000395804;ENST00000341712|ENST00000313485	T;T;T;T|.	0.34072|.	1.38;1.69;1.65;1.65|.	5.79|5.79	4.63|4.63	0.57726|0.57726	.|.	0.000000|.	0.64402|.	D|.	0.000004|.	T|T	0.76793|0.76793	0.4037|0.4037	M|M	0.81497|0.81497	2.545|2.545	0.40362|0.40362	D|D	0.979258|0.979258	D;D;D|.	0.89917|.	1.0;0.999;0.997|.	D;D;D|.	0.91635|.	0.999;0.991;0.991|.	T|T	0.78770|0.78770	-0.2074|-0.2074	10|5	0.56958|.	D|.	0.05|.	-8.5622|-8.5622	15.7416|15.7416	0.77901|0.77901	0.0:0.9239:0.0:0.0761|0.0:0.9239:0.0:0.0761	.|.	1125;761;761|.	Q9Y6X7;Q6WCQ1-2;Q6WCQ1|.	.;.;MPRIP_HUMAN|.	V|R	723;761;761;761|1125	ENSP00000400189:L723V;ENSP00000379156:L761V;ENSP00000379149:L761V;ENSP00000342379:L761V|.	ENSP00000342379:L761V|.	L|P	+|+	1|2	2|0	MPRIP|MPRIP	17015874|17015874	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.934000|0.934000	0.57294|0.57294	2.650000|2.650000	0.46665|0.46665	2.743000|2.743000	0.94032|0.94032	0.655000|0.655000	0.94253|0.94253	CTA|CCT		0.557	MPRIP-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000131587.1	NM_015134		21	31	0	0	0	1	0	21	31					G	17075149	C	G	17075149	3	3	422	1	0	0	0	0	1	0	0	0	9743	680	24	5	2343	5	MPRIP	17	17075149	Missense_Mutation	SNP	C	TCGA-WW-A8ZI-01A-11D-A377-08		17075149	64120061	37	20443											
KRT27	342574	broad.mit.edu	37	chr17	38936652	38936652	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcagctcatccaggactcttCgcaaaccattgatgtccgcc	9	10	7	15	2	3	1	2	1	1	0	6	2	5	2	4	1	2	2	4	1	1	2			TCGA-WW-A8ZI-01A-11D-A377-08	TCGA-WW-A8ZI-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f032fb5f-6499-4cd4-82c5-fec6bdb5caad	e4ae4cc7-3295-4d4c-a51b-d65f5ad626d6	g.chr17:38936652C>T	ENST00000301656.3	-	3	624	c.584G>A	c.(583-585)cGa>cAa	p.R195Q	KRT27_ENST00000540723.1_5'Flank	NM_181537.3	NP_853515.2			keratin 27									p.R195Q(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(3)|skin(1)|stomach(1)	21		Breast(137;0.000812)				CAGGACTCTTCGCAAACCATT	0.478																																						ENST00000301656.3																			1	Substitution - Missense(1)	p.R195Q(1)	large_intestine(1)	NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(3)|skin(1)|stomach(1)	21						c.(583-585)cGa>cAa		keratin 27							86	74	78					17																	38936652		2203	4300	6503	SO:0001583	missense	342574					cytoplasm|intermediate filament	structural molecule activity	g.chr17:38936652C>T	AJ564206	CCDS11375.1	17q21.2	2013-01-16	2006-07-17	2006-07-17	ENSG00000171446	ENSG00000171446		"-", "Intermediate filaments type I, keratins (acidic)"	30841	protein-coding gene	gene with protein product			"keratin 25C"	KRT25C		16831889	Standard	NM_181537		Approved		uc002hvg.3	Q7Z3Y8	OTTHUMG00000133371	ENST00000301656.3:c.584G>A	17.37:g.38936652C>T	ENSP00000301656:p.Arg195Gln						p.R195Q	NM_181537.3	NP_853515.2	Q7Z3Y8	K1C27_HUMAN			3	624	-		Breast(137;0.000812)	195			Coil 1B.|Rod.			Missense_Mutation	SNP	ENST00000301656.3	37	c.584G>A	CCDS11375.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.199105	0.79015	.	.	ENSG00000171446	ENST00000301656	D	0.92099	-2.97	5.5	4.53	0.55603	Filament (1);	0.000000	0.64402	D	0.000012	D	0.96153	0.8746	M	0.86573	2.825	0.37185	D	0.903669	D	0.76494	0.999	D	0.75020	0.985	D	0.98541	1.0632	10	0.87932	D	0	.	13.9161	0.63899	0.0:0.9262:0.0:0.0738	.	195	Q7Z3Y8	K1C27_HUMAN	Q	195	ENSP00000301656:R195Q	ENSP00000301656:R195Q	R	-	2	0	KRT27	36190178	0.298000	0.24417	0.981000	0.43875	0.728000	0.41692	0.974000	0.29436	1.456000	0.47831	0.655000	0.94253	CGA		0.478	KRT27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257216.1	NM_181537		12	31	0	0	0	1	0	12	31					T	38936652	C	T	38936652	3	4	422	1	0	0	0	0	1	0	0	0	8464	884	31	2	819	2	KRT27	17	38936652	Missense_Mutation	SNP	C	TCGA-WW-A8ZI-01A-11D-A377-08	21861503	38936652	42258558	38	20444											
CDK5RAP3	80279	broad.mit.edu	37	chr17	46054119	46054119	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gtagaggcagtgtctgagggGactgactctggcatctctgc	7	10	15	9	0	3	3	0	2	3	1	4	4	3	4	0	4	1	3	0	4	1	1			TCGA-WW-A8ZI-01A-11D-A377-08	TCGA-WW-A8ZI-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f032fb5f-6499-4cd4-82c5-fec6bdb5caad	e4ae4cc7-3295-4d4c-a51b-d65f5ad626d6	g.chr17:46054119G>A	ENST00000338399.4	+	9	946	c.840G>A	c.(838-840)ggG>ggA	p.G280G	CDK5RAP3_ENST00000536708.2_Silent_p.G305G|RP11-6N17.9_ENST00000582262.1_RNA	NM_176096.1	NP_788276.1	Q96JB5	CK5P3_HUMAN	CDK5 regulatory subunit associated protein 3	280					brain development (GO:0007420)|protein ufmylation (GO:0071569)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of neuron differentiation (GO:0045664)	membrane (GO:0016020)	protein kinase binding (GO:0019901)			NS(1)|central_nervous_system(2)|cervix(3)|endometrium(3)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	18						TGTCTGAGGGGACTGACTCTG	0.537																																						ENST00000536708.2																			0				NS(1)|central_nervous_system(2)|cervix(3)|endometrium(3)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	18						c.(913-915)ggG>ggA		CDK5 regulatory subunit associated protein 3							75	74	74					17																	46054119		1949	4138	6087	SO:0001819	synonymous_variant	80279				brain development|regulation of cyclin-dependent protein kinase activity|regulation of neuron differentiation		neuronal Cdc2-like kinase binding	g.chr17:46054119G>A	AF110322	CCDS42356.1, CCDS62232.1	17q21.2	2008-07-18				ENSG00000108465			18673	protein-coding gene	gene with protein product	"ischemic heart CDK5 activator-binding protein C53", "LXXLL/leucine-zipper-containing ARFbinding protein"	608202				10721722	Standard	NM_176096		Approved	MST016, FLJ13660, C53, IC53, HSF-27, OK/SW-cl.114, LZAP	uc010wlc.3	Q96JB5		ENST00000338399.4:c.840G>A	17.37:g.46054119G>A						CDK5RAP3_ENST00000338399.4_Silent_p.G280G	p.G305G	NM_001278197.1	NP_001265126.1	Q96JB5	CK5P3_HUMAN			9	1024	+			280					B7Z6N4|D3DTU1|D3DTU2|F5H3I5|Q53FA2|Q9H3F8|Q9H8G0|Q9HBR9	Silent	SNP	ENST00000338399.4	37	c.915G>A	CCDS42356.1																																																																																				0.537	CDK5RAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442913.1	NM_176096		30	7	0	0	0	1	0	30	7					A	46054119	G	A	46054119	2	1	422	1	0	0	0	0	0	0	0	1	3147	1161	41	3		3	CDK5RAP3	17	46054119	Silent	SNP	G	TCGA-WW-A8ZI-01A-11D-A377-08	7117467	46054119	35141091	39	20445											
L3MBTL4	91133	broad.mit.edu	37	chr18	6311576	6311576	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcgtccgtcctgatccaaacGctctttggaatccatattaa	10	12	7	12	3	1	1	0	1	1	0	5	2	5	2	4	1	1	1	4	1	4	3			TCGA-WW-A8ZI-01A-11D-A377-08	TCGA-WW-A8ZI-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f032fb5f-6499-4cd4-82c5-fec6bdb5caad	e4ae4cc7-3295-4d4c-a51b-d65f5ad626d6	g.chr18:6311576G>A	ENST00000284898.6	-	3	249	c.49C>T	c.(49-51)Cgt>Tgt	p.R17C	L3MBTL4_ENST00000400104.3_Missense_Mutation_p.R17C|L3MBTL4_ENST00000400105.2_Missense_Mutation_p.R17C|L3MBTL4_ENST00000317931.7_Missense_Mutation_p.R17C	NM_173464.3	NP_775735.2	Q8NA19	LMBL4_HUMAN	l(3)mbt-like 4 (Drosophila)	17					chromatin modification (GO:0016568)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(17)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		Colorectal(10;0.0249)				TGATCCAAACGCTCTTTGGAA	0.478																																					Esophageal Squamous(41;748 902 17366 28959 43175)	ENST00000400104.3																			0				breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(17)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						c.(49-51)Cgt>Tgt		l(3)mbt-like 4 (Drosophila)							308	275	286					18																	6311576		2203	4300	6503	SO:0001583	missense	91133				chromatin modification	nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr18:6311576G>A	BC039316	CCDS11839.2	18p11.31-p11.23	2013-01-10			ENSG00000154655	ENSG00000154655		"Sterile alpha motif (SAM) domain containing"	26677	protein-coding gene	gene with protein product						14702039	Standard	NM_173464		Approved	FLJ35936, HsT1031	uc010dkt.3	Q8NA19	OTTHUMG00000131573	ENST00000284898.6:c.49C>T	18.37:g.6311576G>A	ENSP00000284898:p.Arg17Cys					L3MBTL4_ENST00000284898.6_Missense_Mutation_p.R17C|L3MBTL4_ENST00000400105.2_Missense_Mutation_p.R17C|L3MBTL4_ENST00000317931.7_Missense_Mutation_p.R17C	p.R17C			Q8NA19	LMBL4_HUMAN			3	249	-		Colorectal(10;0.0249)	17					A8MTL8|Q8IXS3	Missense_Mutation	SNP	ENST00000284898.6	37	c.49C>T	CCDS11839.2	.	.	.	.	.	.	.	.	.	.	.	13.13	2.146287	0.37923	.	.	ENSG00000154655	ENST00000400105;ENST00000317931;ENST00000284898;ENST00000400104	T;T;T;T	0.14640	2.49;2.49;2.49;2.69	4.8	3.0	0.34707	.	0.914058	0.09169	N	0.839236	T	0.08223	0.0205	N	0.22421	0.69	0.19300	N	0.999972	P	0.48911	0.917	B	0.36418	0.224	T	0.25882	-1.0119	10	0.59425	D	0.04	.	6.0343	0.19697	0.0958:0.0:0.7193:0.1849	.	17	Q8NA19	LMBL4_HUMAN	C	17	ENSP00000382976:R17C;ENSP00000318543:R17C;ENSP00000284898:R17C;ENSP00000382975:R17C	ENSP00000284898:R17C	R	-	1	0	L3MBTL4	6301576	0.011000	0.17503	0.097000	0.21041	0.682000	0.39822	0.988000	0.29616	0.625000	0.30304	-0.228000	0.12330	CGT		0.478	L3MBTL4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254448.2	NM_173464		18	180	0	0	0	1	0	18	180					A	6311576	G	A	6311576	3	1	422	1	0	0	0	0	1	0	0	0	8594	1087	38	1	1894	1	L3MBTL4	18	6311576	Missense_Mutation	SNP	G	TCGA-WW-A8ZI-01A-11D-A377-08		6311576	71765672	40	20446											
FAM38B	63895	broad.mit.edu	37	chr18	10691245	10691245	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttggaataagaagaggttgaCgtaattgtagctcttggtga	12	13	13	3	1	1	4	0	2	1	2	1	5	1	5	0	3	1	4	0	3	5	7			TCGA-WW-A8ZI-01A-11D-A377-08	TCGA-WW-A8ZI-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f032fb5f-6499-4cd4-82c5-fec6bdb5caad	e4ae4cc7-3295-4d4c-a51b-d65f5ad626d6	g.chr18:10691245C>T	ENST00000503781.3	-	44	6987	c.6988G>A	c.(6988-6990)Gtc>Atc	p.V2330I	PIEZO2_ENST00000302079.6_Missense_Mutation_p.V2330I|PIEZO2_ENST00000580640.1_Missense_Mutation_p.V2355I|PIEZO2_ENST00000538948.1_Missense_Mutation_p.V287I|PIEZO2_ENST00000285141.4_Missense_Mutation_p.V185I	NM_022068.2	NP_071351.2	Q9H5I5	PIEZ2_HUMAN	piezo-type mechanosensitive ion channel component 2	2330					cation transport (GO:0006812)|detection of mechanical stimulus involved in sensory perception (GO:0050974)|regulation of membrane potential (GO:0042391)|response to mechanical stimulus (GO:0009612)	integral component of membrane (GO:0016021)	cation channel activity (GO:0005261)|mechanically-gated ion channel activity (GO:0008381)	p.V2330I(1)|p.V185I(1)									AAGAGGTTGACGTAATTGTAG	0.488																																						ENST00000302079.6																			2	Substitution - Missense(2)	p.V2330I(1)|p.V185I(1)	prostate(2)								c.(6988-6990)Gtc>Atc		piezo-type mechanosensitive ion channel component 2							140	123	128					18																	10691245		2203	4300	6503	SO:0001583	missense	63895					integral to membrane	ion channel activity	g.chr18:10691245C>T	AK027056		18p11.21	2012-11-19	2011-08-31	2011-08-31	ENSG00000154864	ENSG00000154864			26270	protein-coding gene	gene with protein product		613629	"chromosome 18 open reading frame 30", "chromosome 18 open reading frame 58", "family with sequence similarity 38, member B"	FAM38B2, C18orf30, C18orf58, FAM38B		20813920, 21056836, 21299953	Standard	NM_022068		Approved	FLJ23403, FLJ23144, HsT748, HsT771, FLJ34907	uc002kos.2	Q9H5I5	OTTHUMG00000178507	ENST00000503781.3:c.6988G>A	18.37:g.10691245C>T	ENSP00000421377:p.Val2330Ile					PIEZO2_ENST00000538948.1_Missense_Mutation_p.V287I|PIEZO2_ENST00000285141.4_Missense_Mutation_p.V185I|PIEZO2_ENST00000503781.3_Missense_Mutation_p.V2330I|PIEZO2_ENST00000580640.1_Missense_Mutation_p.V2355I	p.V2330I			Q9H5I5	PIEZ2_HUMAN			44	6987	-			2330					B7Z812|M4GPJ9|Q6ZS91|Q8N787|Q8NAR6|Q9H5R4	Missense_Mutation	SNP	ENST00000503781.3	37	c.6988G>A		.	.	.	.	.	.	.	.	.	.	C	11.75	1.731604	0.30684	.	.	ENSG00000154864	ENST00000503781;ENST00000302079;ENST00000538948;ENST00000285141	T;T;T	0.72942	-0.7;-0.7;-0.68	5.62	4.74	0.60224	.	0.087086	0.47852	D	0.000208	T	0.44808	0.1311	N	0.02721	-0.515	0.41431	D	0.987869	B	0.24533	0.105	B	0.21151	0.033	T	0.43621	-0.9380	10	0.15952	T	0.53	.	14.3048	0.66377	0.0:0.9287:0.0:0.0713	.	287	D6RFZ0	.	I	287;2330;287;185	ENSP00000303316:V2330I;ENSP00000443129:V287I;ENSP00000285141:V185I	ENSP00000285141:V185I	V	-	1	0	FAM38B	10681245	0.999000	0.42202	0.994000	0.49952	0.983000	0.72400	4.012000	0.57131	2.804000	0.96469	0.655000	0.94253	GTC		0.488	PIEZO2-003	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000442385.4	NM_022068		43	28	0	0	0	1	0	43	28					T	10691245	C	T	10691245	3	4	422	1	0	0	0	0	1	0	0	0	5555	536	19	1	1306	1	FAM38B	18	10691245	Missense_Mutation	SNP	C	TCGA-WW-A8ZI-01A-11D-A377-08	4379669	10691245	67386003	41	20447											
TCEB3B	51224	broad.mit.edu	37	chr18	44561290	44561290	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggctcctgggggccgtcgCgttttctgggaagccccagg	3	9	17	12	3	1	0	0	0	1	0	3	1	2	1	4	5	1	2	4	5	1	2			TCGA-WW-A8ZI-01A-11D-A377-08	TCGA-WW-A8ZI-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f032fb5f-6499-4cd4-82c5-fec6bdb5caad	e4ae4cc7-3295-4d4c-a51b-d65f5ad626d6	g.chr18:44561290C>T	ENST00000332567.4	-	1	698	c.346G>A	c.(346-348)Gcg>Acg	p.A116T	KATNAL2_ENST00000592005.1_Intron|KATNAL2_ENST00000245121.5_Intron|KATNAL2_ENST00000356157.7_Intron	NM_016427.2	NP_057511.2	Q8IYF1	ELOA2_HUMAN	transcription elongation factor B polypeptide 3B (elongin A2)	116					regulation of DNA-templated transcription, elongation (GO:0032784)|transcription from RNA polymerase II promoter (GO:0006366)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.A116T(1)		breast(1)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|lung(24)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						GGGGCCGTCGCGTTTTCTGGG	0.662																																						ENST00000332567.4																			1	Substitution - Missense(1)	p.A116T(1)	large_intestine(1)	breast(1)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|lung(24)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						c.(346-348)Gcg>Acg		transcription elongation factor B polypeptide 3B (elongin A2)							45	53	50					18																	44561290		2199	4296	6495	SO:0001583	missense	51224				regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter	integral to membrane|nucleus	DNA binding	g.chr18:44561290C>T	BC036022	CCDS11932.1	18q21.1	2009-08-04			ENSG00000206181	ENSG00000206181			30771	protein-coding gene	gene with protein product	"transcription elongation factor (SIII) elongin A2", "elongin A2"	609522				7660129, 8244996	Standard	NM_016427		Approved	HsT832, TCEB3L	uc002lcr.1	Q8IYF1	OTTHUMG00000132649	ENST00000332567.4:c.346G>A	18.37:g.44561290C>T	ENSP00000331302:p.Ala116Thr					KATNAL2_ENST00000356157.7_Intron|KATNAL2_ENST00000245121.5_Intron|KATNAL2_ENST00000592005.1_Intron	p.A116T	NM_016427.2	NP_057511.2	Q8IYF1	ELOA2_HUMAN			1	698	-			116					Q9P2V9	Missense_Mutation	SNP	ENST00000332567.4	37	c.346G>A	CCDS11932.1	.	.	.	.	.	.	.	.	.	.	C	5.944	0.358254	0.11239	.	.	ENSG00000206181	ENST00000332567	T	0.06687	3.27	2.61	-5.22	0.02806	.	1.448910	0.05242	U	0.512412	T	0.03477	0.0100	N	0.22421	0.69	0.09310	N	1	P	0.46020	0.871	B	0.33521	0.165	T	0.20806	-1.0264	10	0.22706	T	0.39	2.3089	1.5561	0.02585	0.1498:0.3783:0.2263:0.2456	.	116	Q8IYF1	ELOA2_HUMAN	T	116	ENSP00000331302:A116T	ENSP00000331302:A116T	A	-	1	0	TCEB3B	42815288	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.541000	0.06099	-2.991000	0.00279	-0.534000	0.04291	GCG		0.662	TCEB3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255900.1	NM_016427		4	78	0	0	0	1	0	4	78					T	44561290	C	T	44561290	3	4	422	1	0	0	0	0	1	0	0	0	15679	768	27	1	1919	1	TCEB3B	18	44561290	Missense_Mutation	SNP	C	TCGA-WW-A8ZI-01A-11D-A377-08	33870045	44561290	33515958	42	20448											
MUC16	94025	broad.mit.edu	37	chr19	9090831	9090831	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttgcttagtgtcatggaaaaAgggatagctgagttgggcat	11	12	14	4	0	1	1	1	1	0	0	1	3	1	3	0	3	2	4	0	3	4	4			TCGA-WW-A8ZI-01A-11D-A377-08	TCGA-WW-A8ZI-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f032fb5f-6499-4cd4-82c5-fec6bdb5caad	e4ae4cc7-3295-4d4c-a51b-d65f5ad626d6	g.chr19:9090831A>G	ENST00000397910.4	-	1	1187	c.984T>C	c.(982-984)ccT>ccC	p.P328P		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	328	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TCATGGAAAAAGGGATAGCTG	0.522																																						ENST00000397910.4																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(982-984)ccT>ccC		mucin 16, cell surface associated							96	95	96					19																	9090831		2041	4195	6236	SO:0001819	synonymous_variant	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9090831A>G	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.984T>C	19.37:g.9090831A>G							p.P328P	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			1	1187	-			328			Thr-rich.		Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	c.984T>C	CCDS54212.1																																																																																				0.522	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		3	80	0	0	0	1	0	3	80					G	9090831	A	G	9090831	2	3	422	1	0	0	0	0	0	0	0	1	9973	59	3	4		4	MUC16	19	9090831	Silent	SNP	A	TCGA-WW-A8ZI-01A-11D-A377-08		9090831	50038152	43	20449											
BRSK1	84446	broad.mit.edu	37	chr19	55805438	55805438	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggatgagaaaaacaacatccGcattgcagacttcggcatgg	14	7	11	9	2	0	2	0	1	0	2	2	4	1	3	1	3	3	3	1	3	3	2			TCGA-WW-A8ZI-01A-11D-A377-08	TCGA-WW-A8ZI-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f032fb5f-6499-4cd4-82c5-fec6bdb5caad	e4ae4cc7-3295-4d4c-a51b-d65f5ad626d6	g.chr19:55805438G>A	ENST00000309383.1	+	5	789	c.512G>A	c.(511-513)cGc>cAc	p.R171H	BRSK1_ENST00000590333.1_Missense_Mutation_p.R187H|BRSK1_ENST00000585418.1_Missense_Mutation_p.R171H	NM_032430.1	NP_115806.1	Q8TDC3	BRSK1_HUMAN	BR serine/threonine kinase 1	171	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axonogenesis (GO:0007409)|cellular response to DNA damage stimulus (GO:0006974)|centrosome duplication (GO:0051298)|establishment of cell polarity (GO:0030010)|G2 DNA damage checkpoint (GO:0031572)|neuron differentiation (GO:0030182)|neurotransmitter secretion (GO:0007269)|protein phosphorylation (GO:0006468)|response to UV (GO:0009411)	cell junction (GO:0030054)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	ATP binding (GO:0005524)|gamma-tubulin binding (GO:0043015)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)|tau-protein kinase activity (GO:0050321)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(15)|ovary(2)|prostate(2)|skin(6)|stomach(1)	48		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0474)		AACAACATCCGCATTGCAGAC	0.622																																						ENST00000309383.1																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(15)|ovary(2)|prostate(2)|skin(6)|stomach(1)	48						c.(511-513)cGc>cAc		BR serine/threonine kinase 1							166	172	170					19																	55805438		2203	4300	6503	SO:0001583	missense	84446				establishment of cell polarity|G2/M transition DNA damage checkpoint|neuron differentiation|response to UV	cell junction|cytoplasm|nucleus	magnesium ion binding|protein serine/threonine kinase activity	g.chr19:55805438G>A	AB058714	CCDS12921.1	19q13.4	2008-02-05				ENSG00000160469			18994	protein-coding gene	gene with protein product		609235				14976552	Standard	NM_032430		Approved	KIAA1811	uc002qkg.3	Q8TDC3		ENST00000309383.1:c.512G>A	19.37:g.55805438G>A	ENSP00000310649:p.Arg171His					BRSK1_ENST00000590333.1_Missense_Mutation_p.R187H|BRSK1_ENST00000585418.1_Missense_Mutation_p.R171H	p.R171H	NM_032430.1	NP_115806.1	Q8TDC3	BRSK1_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0474)	5	789	+		Renal(1328;0.245)	171			Protein kinase.		F1DG44|Q5J5B5|Q8NDD0|Q8NDR4|Q8TDC2|Q96AV4|Q96JL4	Missense_Mutation	SNP	ENST00000309383.1	37	c.512G>A	CCDS12921.1	.	.	.	.	.	.	.	.	.	.	.	33	5.234175	0.95207	.	.	ENSG00000160469	ENST00000309383	T	0.25414	1.8	4.79	4.79	0.61399	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	D	0.000002	T	0.41096	0.1144	L	0.31845	0.965	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.75020	0.985;0.975	T	0.35773	-0.9775	10	0.87932	D	0	.	16.9671	0.86288	0.0:0.0:1.0:0.0	.	171;187	Q8TDC3;Q8TDC3-2	BRSK1_HUMAN;.	H	171	ENSP00000310649:R171H	ENSP00000310649:R171H	R	+	2	0	BRSK1	60497250	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.123000	0.94387	2.371000	0.80710	0.561000	0.74099	CGC		0.622	BRSK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452787.1	NM_032430		7	346	0	0	0	1	0	7	346					A	55805438	G	A	55805438	3	1	422	1	0	0	0	0	1	0	0	0	1523	1087	38	1	530	1	BRSK1	19	55805438	Missense_Mutation	SNP	G	TCGA-WW-A8ZI-01A-11D-A377-08	46714607	55805438	3323545	44	20450											
PCSK2	5126	broad.mit.edu	37	chr20	17462324	17462324	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctacctggagcatgtccaggCtgtcatcacggtcaacgcaa	10	8	10	13	2	3	0	3	0	0	0	4	1	4	1	2	3	3	3	2	3	3	1			TCGA-WW-A8ZI-01A-11D-A377-08	TCGA-WW-A8ZI-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f032fb5f-6499-4cd4-82c5-fec6bdb5caad	e4ae4cc7-3295-4d4c-a51b-d65f5ad626d6	g.chr20:17462324C>T	ENST00000262545.2	+	12	1841	c.1526C>T	c.(1525-1527)gCt>gTt	p.A509V	PCSK2_ENST00000377899.1_Missense_Mutation_p.A490V|PCSK2_ENST00000459871.1_3'UTR|PCSK2_ENST00000536609.1_Missense_Mutation_p.A474V	NM_002594.3	NP_002585.2	P16519	NEC2_HUMAN	proprotein convertase subtilisin/kexin type 2	509					cellular protein metabolic process (GO:0044267)|embryo development (GO:0009790)|enkephalin processing (GO:0034230)|insulin processing (GO:0030070)|islet amyloid polypeptide processing (GO:0034231)|nervous system development (GO:0007399)|protein autoprocessing (GO:0016540)|proteolysis (GO:0006508)	dendrite (GO:0030425)|extracellular space (GO:0005615)|membrane (GO:0016020)|perikaryon (GO:0043204)|secretory granule lumen (GO:0034774)	serine-type endopeptidase activity (GO:0004252)			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|lung(17)|ovary(3)|pancreas(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	53					"""Insulin(DB00071)|Insulin Regular(DB00030)"	CATGTCCAGGCTGTCATCACG	0.532																																						ENST00000262545.2																			0				breast(2)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|lung(17)|ovary(3)|pancreas(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	53						c.(1525-1527)gCt>gTt		proprotein convertase subtilisin/kexin type 2	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)						125	99	108					20																	17462324		2203	4300	6503	SO:0001583	missense	5126				enkephalin processing|insulin processing|islet amyloid polypeptide processing	extracellular space|membrane|soluble fraction|transport vesicle	serine-type endopeptidase activity	g.chr20:17462324C>T	AK312341	CCDS13125.1, CCDS56179.1, CCDS56180.1	20p11.2	2008-08-01			ENSG00000125851	ENSG00000125851			8744	protein-coding gene	gene with protein product	"neuroendocrine convertase 2", "KEX2-like endoprotease 2"	162151		NEC2		1765368	Standard	NM_001201528		Approved	PC2, SPC2	uc002wpm.3	P16519	OTTHUMG00000031941	ENST00000262545.2:c.1526C>T	20.37:g.17462324C>T	ENSP00000262545:p.Ala509Val					PCSK2_ENST00000536609.1_Missense_Mutation_p.A474V|PCSK2_ENST00000377899.1_Missense_Mutation_p.A490V|PCSK2_ENST00000459871.1_3'UTR	p.A509V	NM_002594.3	NP_002585.2	P16519	NEC2_HUMAN			12	1841	+			509					B1ANH9|B4DFQ3|Q14927|Q5JYQ1|Q8IWA8|Q9NQG3|Q9NUG1|Q9UJC6	Missense_Mutation	SNP	ENST00000262545.2	37	c.1526C>T	CCDS13125.1	.	.	.	.	.	.	.	.	.	.	C	22.2	4.256494	0.80246	.	.	ENSG00000125851	ENST00000377899;ENST00000262545;ENST00000536609	T;T;T	0.56941	0.43;0.43;0.43	5.93	5.93	0.95920	Proprotein convertase, P (1);Galactose-binding domain-like (1);	0.000000	0.85682	D	0.000000	T	0.61751	0.2372	L	0.28400	0.85	0.80722	D	1	D;D;P	0.89917	0.997;1.0;0.574	P;D;B	0.72625	0.904;0.978;0.093	T	0.53549	-0.8423	10	0.22109	T	0.4	-18.7329	18.9036	0.92452	0.0:1.0:0.0:0.0	.	474;490;509	B4DFQ3;B1ANH9;P16519	.;.;NEC2_HUMAN	V	490;509;474	ENSP00000367131:A490V;ENSP00000262545:A509V;ENSP00000437458:A474V	ENSP00000262545:A509V	A	+	2	0	PCSK2	17410324	1.000000	0.71417	0.999000	0.59377	0.976000	0.68499	6.060000	0.71141	2.803000	0.96430	0.585000	0.79938	GCT		0.532	PCSK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078120.2	NM_002594		16	30	0	0	0	1	0	16	30					T	17462324	C	T	17462324	3	4	422	1	0	0	0	0	1	0	0	0	11601	797	28	3	1572	3	PCSK2	20	17462324	Missense_Mutation	SNP	C	TCGA-WW-A8ZI-01A-11D-A377-08		17462324	45563196	45	20451											
TLR8	51311	broad.mit.edu	37	chrX	12939510	12939510	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctgtgacattggagatttccGaagatggatggatgaacatc	12	11	12	6	1	0	4	0	2	0	2	2	8	1	6	1	3	1	0	1	3	2	2			TCGA-WW-A8ZI-01A-11D-A377-08	TCGA-WW-A8ZI-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f032fb5f-6499-4cd4-82c5-fec6bdb5caad	e4ae4cc7-3295-4d4c-a51b-d65f5ad626d6	g.chrX:12939510G>A	ENST00000218032.6	+	2	2438	c.2351G>A	c.(2350-2352)cGa>cAa	p.R784Q	TLR8_ENST00000311912.5_Missense_Mutation_p.R802Q	NM_138636.4	NP_619542.1	Q9NR97	TLR8_HUMAN	toll-like receptor 8	784	LRRCT.				cellular response to mechanical stimulus (GO:0071260)|defense response to virus (GO:0051607)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|immunoglobulin mediated immune response (GO:0016064)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|microglial cell activation involved in immune response (GO:0002282)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of innate immune response (GO:0045089)|positive regulation of interferon-alpha biosynthetic process (GO:0045356)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|positive regulation of interleukin-8 biosynthetic process (GO:0045416)|regulation of cytokine secretion (GO:0050707)|response to virus (GO:0009615)|toll-like receptor 8 signaling pathway (GO:0034158)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	endolysosome membrane (GO:0036020)|endoplasmic reticulum membrane (GO:0005789)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|drug binding (GO:0008144)|receptor activity (GO:0004872)|RNA binding (GO:0003723)|single-stranded RNA binding (GO:0003727)			breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50					Imiquimod(DB00724)	GGAGATTTCCGAAGATGGATG	0.433																																						ENST00000218032.6																			0				breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						c.(2350-2352)cGa>cAa		toll-like receptor 8							112	96	101					X																	12939510		2203	4300	6503	SO:0001583	missense	51311				cellular response to mechanical stimulus|defense response to virus|I-kappaB kinase/NF-kappaB cascade|immunoglobulin mediated immune response|inflammatory response|innate immune response|positive regulation of innate immune response|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process	endosome membrane	DNA binding|double-stranded RNA binding|single-stranded RNA binding|transmembrane receptor activity	g.chrX:12939510G>A	AF246971	CCDS14152.1, CCDS14153.1	Xp22	2009-11-23			ENSG00000101916	ENSG00000101916		"CD molecules"	15632	protein-coding gene	gene with protein product		300366				11022119	Standard	NM_138636		Approved	CD288	uc004cve.3	Q9NR97	OTTHUMG00000021145	ENST00000218032.6:c.2351G>A	X.37:g.12939510G>A	ENSP00000218032:p.Arg784Gln					TLR8_ENST00000311912.5_Missense_Mutation_p.R802Q	p.R784Q	NM_138636.4	NP_619542.1	Q9NR97	TLR8_HUMAN			2	2438	+			784			LRRCT.		B3Y654|D1CS70|D1CS76|Q495P4|Q6UXL6|Q9NYG9	Missense_Mutation	SNP	ENST00000218032.6	37	c.2351G>A	CCDS14152.1	.	.	.	.	.	.	.	.	.	.	G	18.98	3.736943	0.69304	.	.	ENSG00000101916	ENST00000218032;ENST00000311912	T;T	0.34859	1.34;1.52	5.97	3.25	0.37280	Cysteine-rich flanking region, C-terminal (1);	0.248184	0.21042	N	0.081148	T	0.47414	0.1444	M	0.71581	2.175	0.23827	N	0.996737	D;D	0.76494	0.999;0.999	P;P	0.56563	0.801;0.801	T	0.40553	-0.9557	10	0.72032	D	0.01	.	5.8591	0.18736	0.1534:0.0:0.4269:0.4197	.	784;802	Q9NR97;D1CS70	TLR8_HUMAN;.	Q	784;802	ENSP00000218032:R784Q;ENSP00000312082:R802Q	ENSP00000218032:R784Q	R	+	2	0	TLR8	12849431	0.017000	0.18338	0.211000	0.23655	0.959000	0.62525	1.465000	0.35299	0.269000	0.21961	0.600000	0.82982	CGA		0.433	TLR8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055784.2	NM_016610		13	74	0	0	0	1	0	13	74					A	12939510	G	A	12939510	3	1	422	1	0	0	0	0	1	0	0	0	15954	1058	37	2	2357	2	TLR8	23	12939510	Missense_Mutation	SNP	G	TCGA-WW-A8ZI-01A-11D-A377-08		12939510	142331050	46	20452											
CAMTA1	23261	broad.mit.edu	37	chr1	7804931	7804931	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggcagaacacattattgaaGccacacctgaccgaatcaag	15	7	8	11	1	1	3	1	2	0	1	1	4	1	3	3	1	2	1	3	1	5	2			TCGA-X4-A8KQ-01A-12D-A364-08	TCGA-X4-A8KQ-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04ded7a3-d7f2-43a0-9124-6e5a89a0013c	88958ce2-ad68-4691-967e-716477ec338a	g.chr1:7804931G>A	ENST00000303635.7	+	17	4426	c.4219G>A	c.(4219-4221)Gcc>Acc	p.A1407T	CAMTA1_ENST00000476864.1_5'Flank|CAMTA1_ENST00000439411.2_Missense_Mutation_p.A1407T	NM_015215.2	NP_056030.1	Q9Y6Y1	CMTA1_HUMAN	calmodulin binding transcription activator 1	1407					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		CATTATTGAAGCCACACCTGA	0.463			T	WWTR1	epitheliod hemangioendothelioma																																	ENST00000303635.7				Dom	yes		1	1p36.31-p36.23	611501	T	calmodulin binding transcription activator 1			M	WWTR1		epitheliod hemangioendothelioma		0				breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85						c.(4219-4221)Gcc>Acc		calmodulin binding transcription activator 1							115	105	109					1																	7804931		2203	4300	6503	SO:0001583	missense	23261				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding	g.chr1:7804931G>A	AB020640	CCDS30576.1, CCDS55574.1, CCDS55575.1	1p36.31-p36.23	2008-07-18			ENSG00000171735	ENSG00000171735			18806	protein-coding gene	gene with protein product		611501				11925432	Standard	NM_001195563		Approved	KIAA0833	uc001aoi.3	Q9Y6Y1	OTTHUMG00000001212	ENST00000303635.7:c.4219G>A	1.37:g.7804931G>A	ENSP00000306522:p.Ala1407Thr					CAMTA1_ENST00000439411.2_Missense_Mutation_p.A1407T	p.A1407T	NM_015215.2	NP_056030.1	Q9Y6Y1	CMTA1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)	17	4426	+	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)	1407					A7MBM4|G3V3Z7|Q5VUE1|Q6V701|Q8WYI3|Q96S92	Missense_Mutation	SNP	ENST00000303635.7	37	c.4219G>A	CCDS30576.1	.	.	.	.	.	.	.	.	.	.	G	35	5.454966	0.96223	.	.	ENSG00000171735	ENST00000303635;ENST00000439411;ENST00000414738;ENST00000303646	T;T	0.50548	0.74;1.07	5.44	5.44	0.79542	.	0.054877	0.64402	D	0.000001	T	0.69913	0.3164	M	0.71036	2.16	0.80722	D	1	D;D;D;D	0.89917	1.0;0.997;1.0;0.998	D;D;D;D	0.91635	0.999;0.989;0.999;0.975	T	0.72434	-0.4295	10	0.72032	D	0.01	-21.1361	19.2599	0.93964	0.0:0.0:1.0:0.0	.	1407;494;363;1407	Q9Y6Y1-2;B4DXR3;Q7Z7P1;Q9Y6Y1	.;.;.;CMTA1_HUMAN	T	1407;1407;494;363	ENSP00000306522:A1407T;ENSP00000402561:A1407T	ENSP00000306522:A1407T	A	+	1	0	CAMTA1	7727518	1.000000	0.71417	0.997000	0.53966	0.959000	0.62525	9.807000	0.99171	2.549000	0.85964	0.655000	0.94253	GCC		0.463	CAMTA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000003588.3	NM_015215		14	53	0	0	0	1	0	14	53					A	7804931	G	A	7804931	3	1	423	1	0	0	0	0	1	0	0	0	2613	971	34	3	4285	3	CAMTA1	1	7804931	Missense_Mutation	SNP	G	TCGA-X4-A8KQ-01A-12D-A364-08		7804931	241445690	1	20453											
TNFRSF8	943	broad.mit.edu	37	chr1	12198401	12198401	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agcctacctggagagcctgcCgctgcaggatgccagcccgg	7	5	14	15	2	0	1	0	0	0	1	0	3	0	2	6	3	7	2	6	3	1	1			TCGA-X4-A8KQ-01A-12D-A364-08	TCGA-X4-A8KQ-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04ded7a3-d7f2-43a0-9124-6e5a89a0013c	88958ce2-ad68-4691-967e-716477ec338a	g.chr1:12198401C>T	ENST00000263932.2	+	14	1673	c.1451C>T	c.(1450-1452)cCg>cTg	p.P484L	TNFRSF8_ENST00000417814.2_Missense_Mutation_p.P372L|TNFRSF8_ENST00000479933.2_Intron|TNFRSF8_ENST00000413146.2_Missense_Mutation_p.P21L	NM_001243.3|NM_001281430.1	NP_001234.2|NP_001268359.1	P28908	TNR8_HUMAN	tumor necrosis factor receptor superfamily, member 8	484					cellular response to mechanical stimulus (GO:0071260)|negative regulation of cell proliferation (GO:0008285)|positive regulation of apoptotic process (GO:0043065)|positive regulation of TRAIL biosynthetic process (GO:0045556)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	27	Ovarian(185;0.249)	Lung NSC(185;8.71e-05)|all_lung(284;9.89e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649)	Brentuximab vedotin(DB08870)	GAGAGCCTGCCGCTGCAGGAT	0.662																																						ENST00000263932.2																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	27						c.(1450-1452)cCg>cTg		tumor necrosis factor receptor superfamily, member 8							25	28	27					1																	12198401		2199	4297	6496	SO:0001583	missense	0				cellular response to mechanical stimulus|negative regulation of cell proliferation|positive regulation of apoptosis|positive regulation of TRAIL biosynthetic process|positive regulation of tumor necrosis factor biosynthetic process	cytoplasm|integral to membrane|plasma membrane		g.chr1:12198401C>T	M83554	CCDS144.1, CCDS59989.1	1p36	2008-02-05			ENSG00000120949	ENSG00000120949		"Tumor necrosis factor receptor superfamily", "CD molecules"	11923	protein-coding gene	gene with protein product		153243		CD30, D1S166E		1330892, 1310894	Standard	XM_006711049		Approved	KI-1	uc001atq.3	P28908	OTTHUMG00000001827	ENST00000263932.2:c.1451C>T	1.37:g.12198401C>T	ENSP00000263932:p.Pro484Leu					TNFRSF8_ENST00000417814.2_Missense_Mutation_p.P372L|TNFRSF8_ENST00000479933.2_Intron|TNFRSF8_ENST00000413146.2_Missense_Mutation_p.P21L	p.P484L	NM_001243.3	NP_001234.2	P28908	TNR8_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649)	14	1673	+	Ovarian(185;0.249)	Lung NSC(185;8.71e-05)|all_lung(284;9.89e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)	484					B1AN79|B9EGD9|D3YTD8|Q6P4D9	Missense_Mutation	SNP	ENST00000263932.2	37	c.1451C>T	CCDS144.1	.	.	.	.	.	.	.	.	.	.	C	12.72	2.022394	0.35701	.	.	ENSG00000120949	ENST00000263932;ENST00000417814;ENST00000413146	T;T;T	0.22743	1.94;1.94;1.94	4.66	-4.67	0.03319	.	6.137680	0.00397	N	0.000040	T	0.12561	0.0305	L	0.44542	1.39	0.09310	N	1	B;P	0.36144	0.052;0.539	B;B	0.18871	0.009;0.023	T	0.22312	-1.0220	10	0.52906	T	0.07	-2.1128	2.1105	0.03702	0.2095:0.4421:0.15:0.1984	.	372;484	D3YTD8;P28908	.;TNR8_HUMAN	L	484;372;21	ENSP00000263932:P484L;ENSP00000390650:P372L;ENSP00000398337:P21L	ENSP00000263932:P484L	P	+	2	0	TNFRSF8	12120988	0.000000	0.05858	0.002000	0.10522	0.074000	0.17049	-0.232000	0.09055	-0.610000	0.05716	0.485000	0.47835	CCG		0.662	TNFRSF8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005130.1			7	27	0	0	0	1	0	7	27					T	12198401	C	T	12198401	3	4	423	1	0	0	0	0	1	0	0	0	16296	652	23	2	1505	2	TNFRSF8	1	12198401	Missense_Mutation	SNP	C	TCGA-X4-A8KQ-01A-12D-A364-08	4393470	12198401	237052220	2	20454											
PADI4	23569	broad.mit.edu	37	chr1	17668843	17668843	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcgtggtcttccgcgtggCgccctggatcatgaccccca	5	8	12	16	4	2	1	1	1	1	0	3	2	3	2	4	3	1	0	4	3	0	1			TCGA-X4-A8KQ-01A-12D-A364-08	TCGA-X4-A8KQ-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04ded7a3-d7f2-43a0-9124-6e5a89a0013c	88958ce2-ad68-4691-967e-716477ec338a	g.chr1:17668843C>T	ENST00000375448.4	+	8	907	c.881C>T	c.(880-882)gCg>gTg	p.A294V	AC004824.2_ENST00000602074.1_Intron	NM_012387.2	NP_036519.2	Q9UM07	PADI4_HUMAN	peptidyl arginine deiminase, type IV	294					cellular protein modification process (GO:0006464)|chromatin modification (GO:0016568)|chromatin remodeling (GO:0006338)|histone citrullination (GO:0036414)|histone H3-R26 citrullination (GO:0036413)|innate immune response (GO:0045087)|nucleosome assembly (GO:0006334)|protein citrullination (GO:0018101)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	arginine deiminase activity (GO:0016990)|calcium ion binding (GO:0005509)|protein-arginine deiminase activity (GO:0004668)			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(2)|urinary_tract(3)	26		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000338)|Lung NSC(340;0.00042)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00537)|BRCA - Breast invasive adenocarcinoma(304;8.54e-06)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(64;0.000223)|KIRC - Kidney renal clear cell carcinoma(64;0.00313)|STAD - Stomach adenocarcinoma(196;0.00707)|READ - Rectum adenocarcinoma(331;0.0689)|Lung(427;0.199)	L-Citrulline(DB00155)	TTCCGCGTGGCGCCCTGGATC	0.677																																						ENST00000375448.4																			0				autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(2)|urinary_tract(3)	26						c.(880-882)gCg>gTg		peptidyl arginine deiminase, type IV	L-Citrulline(DB00155)						57	54	55					1																	17668843		2203	4300	6503	SO:0001583	missense	23569				chromatin modification|peptidyl-citrulline biosynthetic process from peptidyl-arginine|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calcium ion binding|protein-arginine deiminase activity	g.chr1:17668843C>T	AB017919	CCDS180.1	1p36.13	2014-06-06	2003-02-12		ENSG00000159339	ENSG00000159339	3.5.3.15	"Peptidyl arginine deiminases"	18368	protein-coding gene	gene with protein product		605347	"peptidyl arginine deiminase, type V"	PADI5		10488123	Standard	NM_012387		Approved	PAD, PDI5, PDI4	uc001baj.2	Q9UM07	OTTHUMG00000002371	ENST00000375448.4:c.881C>T	1.37:g.17668843C>T	ENSP00000364597:p.Ala294Val					AC004824.2_ENST00000602074.1_Intron	p.A294V	NM_012387.2	NP_036519.2	Q9UM07	PADI4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00537)|BRCA - Breast invasive adenocarcinoma(304;8.54e-06)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(64;0.000223)|KIRC - Kidney renal clear cell carcinoma(64;0.00313)|STAD - Stomach adenocarcinoma(196;0.00707)|READ - Rectum adenocarcinoma(331;0.0689)|Lung(427;0.199)	8	907	+		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000338)|Lung NSC(340;0.00042)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)	294					A8K392|B2RBW0|Q5VTZ8|Q70SX4	Missense_Mutation	SNP	ENST00000375448.4	37	c.881C>T	CCDS180.1	.	.	.	.	.	.	.	.	.	.	c	27.7	4.853501	0.91355	.	.	ENSG00000159339	ENST00000375448	T	0.32753	1.44	4.97	4.97	0.65823	Protein-arginine deiminase, C-terminal (1);	0.059587	0.64402	D	0.000002	T	0.65595	0.2706	M	0.93594	3.435	0.42398	D	0.992554	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.76315	-0.3004	10	0.87932	D	0	-30.1701	15.0236	0.71650	0.0:1.0:0.0:0.0	.	294;294	A8K392;Q9UM07	.;PADI4_HUMAN	V	294	ENSP00000364597:A294V	ENSP00000364597:A294V	A	+	2	0	PADI4	17541430	1.000000	0.71417	0.984000	0.44739	0.923000	0.55619	6.040000	0.70980	2.312000	0.78011	0.555000	0.69702	GCG		0.677	PADI4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006799.1	NM_012387		9	34	0	0	0	1	0	9	34					T	17668843	C	T	17668843	3	4	423	1	0	0	0	0	1	0	0	0	11380	768	27	1	911	1	PADI4	1	17668843	Missense_Mutation	SNP	C	TCGA-X4-A8KQ-01A-12D-A364-08	5470442	17668843	231581778	3	20455											
CSMD2	114784	broad.mit.edu	37	chr1	33998700	33998700	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgccatccgccttgcaggtgCggtgctcggagccacccttg	4	9	13	15	3	0	0	0	0	0	0	2	1	1	1	5	3	5	2	5	3	0	2			TCGA-X4-A8KQ-01A-12D-A364-08	TCGA-X4-A8KQ-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04ded7a3-d7f2-43a0-9124-6e5a89a0013c	88958ce2-ad68-4691-967e-716477ec338a	g.chr1:33998700C>T	ENST00000373381.4	-	64	10297	c.10121G>A	c.(10120-10122)cGc>cAc	p.R3374H		NM_001281956.1|NM_052896.3	NP_001268885.1|NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	3230						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				CTTGCAGGTGCGGTGCTCGGA	0.657																																						ENST00000373381.4																			0				NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246						c.(10120-10122)cGc>cAc		CUB and Sushi multiple domains 2							35	33	34					1																	33998700		2203	4299	6502	SO:0001583	missense	114784					integral to membrane|plasma membrane	protein binding	g.chr1:33998700C>T	AY210418	CCDS380.1, CCDS60082.1	1p34.3	2014-01-28			ENSG00000121904	ENSG00000121904			19290	protein-coding gene	gene with protein product		608398				11472063, 11572484	Standard	NM_001281956		Approved	KIAA1884	uc001bxn.1	Q7Z408	OTTHUMG00000011135	ENST00000373381.4:c.10121G>A	1.37:g.33998700C>T	ENSP00000362479:p.Arg3374His						p.R3374H	NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN			64	10297	-		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)	3230					B1AM50|E7EUA6|Q53TY4|Q5VT59|Q8N963|Q96Q03|Q9H4V7|Q9H4V8|Q9H4V9|Q9H4W0|Q9H4W1|Q9H4W2|Q9H4W3|Q9H4W4|Q9HCY5|Q9HCY6|Q9HCY7	Missense_Mutation	SNP	ENST00000373381.4	37	c.10121G>A		.	.	.	.	.	.	.	.	.	.	C	35	5.529132	0.96446	.	.	ENSG00000121904	ENST00000373381	T	0.65549	-0.16	5.46	5.46	0.80206	Complement control module (2);Sushi/SCR/CCP (3);	0.000000	0.85682	D	0.000000	D	0.86276	0.5894	H	0.95917	3.74	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.90530	0.4495	10	0.87932	D	0	.	18.2725	0.90072	0.0:1.0:0.0:0.0	.	3230;3374	Q7Z408;E7EUA6	CSMD2_HUMAN;.	H	3374	ENSP00000362479:R3374H	ENSP00000241312:R3230H	R	-	2	0	CSMD2	33771287	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.732000	0.84908	2.554000	0.86153	0.555000	0.69702	CGC		0.657	CSMD2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_052896		8	22	0	0	0	1	0	8	22					T	33998700	C	T	33998700	3	4	423	1	0	0	0	0	1	0	0	0	3945	768	27	1	802	1	CSMD2	1	33998700	Missense_Mutation	SNP	C	TCGA-X4-A8KQ-01A-12D-A364-08	16329857	33998700	215251921	4	20456											
CAPZA1	829	broad.mit.edu	37	chr1	113212672	113212672	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cacattcaaggccttgcgccGgcagcttccagttacccgca	8	8	9	16	3	1	0	1	0	0	0	2	0	2	0	4	2	3	4	4	2	2	4			TCGA-X4-A8KQ-01A-12D-A364-08	TCGA-X4-A8KQ-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04ded7a3-d7f2-43a0-9124-6e5a89a0013c	88958ce2-ad68-4691-967e-716477ec338a	g.chr1:113212672G>A	ENST00000263168.3	+	10	1451	c.779G>A	c.(778-780)cGg>cAg	p.R260Q	CAPZA1_ENST00000476936.1_3'UTR	NM_006135.2	NP_006126.1	P52907	CAZA1_HUMAN	capping protein (actin filament) muscle Z-line, alpha 1	260					actin cytoskeleton organization (GO:0030036)|actin filament capping (GO:0051693)|blood coagulation (GO:0007596)|cellular component movement (GO:0006928)|innate immune response (GO:0045087)|protein complex assembly (GO:0006461)	actin cytoskeleton (GO:0015629)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|F-actin capping protein complex (GO:0008290)|WASH complex (GO:0071203)	actin binding (GO:0003779)			breast(1)|kidney(2)|large_intestine(2)|lung(3)|prostate(1)	9	Lung SC(450;0.246)	all_cancers(81;1.44e-07)|all_epithelial(167;7.64e-07)|all_lung(203;2.16e-05)|Lung NSC(69;3.86e-05)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GCCTTGCGCCGGCAGCTTCCA	0.418																																						ENST00000263168.3																			0				breast(1)|kidney(2)|large_intestine(2)|lung(3)|prostate(1)	9						c.(778-780)cGg>cAg		capping protein (actin filament) muscle Z-line, alpha 1							70	67	68					1																	113212672		2203	4300	6503	SO:0001583	missense	829				actin cytoskeleton organization|actin filament capping|blood coagulation|cellular component movement|innate immune response|protein complex assembly	cytosol|extracellular region|F-actin capping protein complex|WASH complex	actin binding	g.chr1:113212672G>A	U56637	CCDS30805.1	1p13.2	2014-05-09			ENSG00000116489	ENSG00000116489			1488	protein-coding gene	gene with protein product		601580				7665558, 9119363	Standard	NM_006135		Approved		uc001ecj.1	P52907	OTTHUMG00000011769	ENST00000263168.3:c.779G>A	1.37:g.113212672G>A	ENSP00000263168:p.Arg260Gln					CAPZA1_ENST00000476936.1_3'UTR	p.R260Q	NM_006135.2	NP_006126.1	P52907	CAZA1_HUMAN		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	10	1451	+	Lung SC(450;0.246)	all_cancers(81;1.44e-07)|all_epithelial(167;7.64e-07)|all_lung(203;2.16e-05)|Lung NSC(69;3.86e-05)	260					Q53FQ6|Q6FHD5	Missense_Mutation	SNP	ENST00000263168.3	37	c.779G>A	CCDS30805.1	.	.	.	.	.	.	.	.	.	.	G	34	5.389343	0.95988	.	.	ENSG00000116489	ENST00000263168	.	.	.	5.67	4.76	0.60689	F-actin capping protein, alpha subunit, conserved site (1);	0.054707	0.85682	D	0.000000	T	0.66096	0.2755	M	0.93939	3.475	0.49798	D	0.999827	B	0.19331	0.035	B	0.13407	0.009	T	0.73122	-0.4082	9	0.87932	D	0	-27.6084	14.5169	0.67826	0.0713:0.0:0.9287:0.0	.	260	P52907	CAZA1_HUMAN	Q	260	.	ENSP00000263168:R260Q	R	+	2	0	CAPZA1	113014195	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.791000	0.99081	1.541000	0.49316	0.650000	0.86243	CGG		0.418	CAPZA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032567.2	NM_006135		18	49	0	0	0	1	0	18	49					A	113212672	G	A	113212672	3	1	423	1	0	0	0	0	1	0	0	0	2640	1116	39	2	817	2	CAPZA1	1	113212672	Missense_Mutation	SNP	G	TCGA-X4-A8KQ-01A-12D-A364-08	79213972	113212672	136037949	5	20457											
LRIG2	9860	broad.mit.edu	37	chr1	113638882	113638882	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gctgacccgcctggatgaatCtgcctttgtgggtctgagct	5	12	13	11	1	2	3	0	3	2	0	2	4	2	4	3	2	2	2	3	2	1	1			TCGA-X4-A8KQ-01A-12D-A364-08	TCGA-X4-A8KQ-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04ded7a3-d7f2-43a0-9124-6e5a89a0013c	88958ce2-ad68-4691-967e-716477ec338a	g.chr1:113638882C>T	ENST00000361127.5	+	8	1184	c.986C>T	c.(985-987)tCt>tTt	p.S329F		NM_014813.1	NP_055628.1	O94898	LRIG2_HUMAN	leucine-rich repeats and immunoglobulin-like domains 2	329					innervation (GO:0060384)|regulation of platelet-derived growth factor receptor signaling pathway (GO:0010640)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(10)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1)	31	Lung SC(450;0.246)	all_cancers(81;1.56e-05)|all_epithelial(167;2.62e-05)|all_lung(203;0.000665)|Lung NSC(69;0.000986)		Lung(183;0.0279)|Colorectal(144;0.0885)|COAD - Colon adenocarcinoma(174;0.134)|all cancers(265;0.139)|Epithelial(280;0.143)|LUSC - Lung squamous cell carcinoma(189;0.15)		CTGGATGAATCTGCCTTTGTG	0.383																																						ENST00000361127.4																			0				breast(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(10)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1)	31						c.(985-987)tCt>tTt		leucine-rich repeats and immunoglobulin-like domains 2							180	176	177					1																	113638882		2203	4300	6503	SO:0001583	missense	9860					cytoplasm|integral to membrane|plasma membrane		g.chr1:113638882C>T	AB018349	CCDS30808.1	1p13.1	2013-01-11			ENSG00000198799	ENSG00000198799		"Immunoglobulin superfamily / I-set domain containing"	20889	protein-coding gene	gene with protein product		608869					Standard	XM_005271369		Approved	KIAA0806	uc001edf.1	O94898	OTTHUMG00000012133	ENST00000361127.5:c.986C>T	1.37:g.113638882C>T	ENSP00000355396:p.Ser329Phe						p.S329F	NM_014813.1	NP_055628.1	O94898	LRIG2_HUMAN		Lung(183;0.0279)|Colorectal(144;0.0885)|COAD - Colon adenocarcinoma(174;0.134)|all cancers(265;0.139)|Epithelial(280;0.143)|LUSC - Lung squamous cell carcinoma(189;0.15)	8	1184	+	Lung SC(450;0.246)	all_cancers(81;1.56e-05)|all_epithelial(167;2.62e-05)|all_lung(203;0.000665)|Lung NSC(69;0.000986)	329					Q9NSN2	Missense_Mutation	SNP	ENST00000361127.5	37	c.986C>T	CCDS30808.1	.	.	.	.	.	.	.	.	.	.	c	11.59	1.682771	0.29872	.	.	ENSG00000198799	ENST00000361127	T	0.64085	-0.08	6.15	6.15	0.99193	.	0.109901	0.64402	D	0.000005	T	0.40570	0.1122	L	0.47078	1.49	0.42229	D	0.991887	B	0.12013	0.005	B	0.18263	0.021	T	0.28332	-1.0047	10	0.33940	T	0.23	.	11.028	0.47757	0.0:0.8631:0.0:0.1369	.	329	O94898	LRIG2_HUMAN	F	329	ENSP00000355396:S329F	ENSP00000355396:S329F	S	+	2	0	LRIG2	113440405	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.596000	0.54024	2.932000	0.99384	0.643000	0.83706	TCT		0.383	LRIG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033549.2	NM_014813		19	92	0	0	0	1	0	19	92					T	113638882	C	T	113638882	3	4	423	1	0	0	0	0	1	0	0	0	8945	913	32	3	1016	3	LRIG2	1	113638882	Missense_Mutation	SNP	C	TCGA-X4-A8KQ-01A-12D-A364-08	426210	113638882	135611739	6	20458											
ADAMTSL4	54507	broad.mit.edu	37	chr1	150529231	150529231	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agggcaaaggggagagtctgTcggctgaaggccccaccacc	10	4	15	12	1	1	2	0	1	1	1	2	3	1	2	4	5	0	2	4	5	2	0			TCGA-X4-A8KQ-01A-12D-A364-08	TCGA-X4-A8KQ-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04ded7a3-d7f2-43a0-9124-6e5a89a0013c	88958ce2-ad68-4691-967e-716477ec338a	g.chr1:150529231T>C	ENST00000369038.2	+	8	1912	c.1711T>C	c.(1711-1713)Tcg>Ccg	p.S571P	ADAMTSL4_ENST00000369041.5_Missense_Mutation_p.S571P|ADAMTSL4_ENST00000369039.5_Missense_Mutation_p.S594P|ADAMTSL4_ENST00000271643.4_Missense_Mutation_p.S571P|RP11-54A4.2_ENST00000442435.2_RNA			Q6UY14	ATL4_HUMAN	ADAMTS-like 4	571					apoptotic process (GO:0006915)|extracellular matrix organization (GO:0030198)|positive regulation of apoptotic process (GO:0043065)	interstitial matrix (GO:0005614)	metalloendopeptidase activity (GO:0004222)|protease binding (GO:0002020)			breast(1)|cervix(1)|endometrium(6)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(3)	32	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			GGAGAGTCTGTCGGCTGAAGG	0.652																																						ENST00000271643.4																			0				breast(1)|cervix(1)|endometrium(6)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(3)	32						c.(1711-1713)Tcg>Ccg		ADAMTS-like 4							97	115	109					1																	150529231		2203	4300	6503	SO:0001583	missense	54507				apoptosis|positive regulation of apoptosis		metalloendopeptidase activity|protease binding	g.chr1:150529231T>C	BC027478	CCDS955.1, CCDS30852.1, CCDS72908.1	1q21.2	2008-02-05	2005-12-01	2005-12-01	ENSG00000143382	ENSG00000143382			19706	protein-coding gene	gene with protein product		610113	"thrombospondin repeat containing 1"	TSRC1		12706885	Standard	NM_019032		Approved	DKFZP434K1772	uc001eux.3	Q6UY14	OTTHUMG00000034863	ENST00000369038.2:c.1711T>C	1.37:g.150529231T>C	ENSP00000358034:p.Ser571Pro					ADAMTSL4_ENST00000369039.5_Missense_Mutation_p.S594P|RP11-54A4.2_ENST00000442435.2_RNA|ADAMTSL4_ENST00000369041.5_Missense_Mutation_p.S571P|ADAMTSL4_ENST00000369038.2_Missense_Mutation_p.S571P	p.S571P	NM_019032.4	NP_061905.2	Q6UY14	ATL4_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)		10	1947	+	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		571					B2RTT0|F8WAD0|Q5T5F7|Q6IPM6|Q8N643|Q9HBS6	Missense_Mutation	SNP	ENST00000369038.2	37	c.1711T>C	CCDS955.1	.	.	.	.	.	.	.	.	.	.	T	15.93	2.979603	0.53827	.	.	ENSG00000143382	ENST00000369041;ENST00000271643;ENST00000407995;ENST00000369039;ENST00000369038	T;T;T;T	0.53423	0.62;0.62;0.62;0.62	4.68	2.08	0.27032	ADAM-TS Spacer 1 (1);	.	.	.	.	T	0.41003	0.1140	L	0.60067	1.865	0.34841	D	0.740708	D;D;D;D	0.55800	0.973;0.966;0.966;0.958	P;P;P;P	0.57679	0.825;0.735;0.697;0.563	T	0.30090	-0.9990	9	0.38643	T	0.18	.	8.154	0.31158	0.3348:0.0:0.0:0.6652	.	594;594;571;571	B7ZMJ3;F8WAD0;Q6UY14;Q6UY14-2	.;.;ATL4_HUMAN;.	P	571;571;109;594;571	ENSP00000358037:S571P;ENSP00000271643:S571P;ENSP00000358035:S594P;ENSP00000358034:S571P	ENSP00000271643:S571P	S	+	1	0	ADAMTSL4	148795855	0.011000	0.17503	0.938000	0.37757	0.697000	0.40408	0.098000	0.15189	0.759000	0.33084	0.460000	0.39030	TCG		0.652	ADAMTSL4-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084395.4	NM_019032		25	112	0	0	0	1	0	25	112					C	150529231	T	C	150529231	3	2	423	1	0	0	0	0	1	0	0	0	277	1667	58	4	1741	4	ADAMTSL4	1	150529231	Missense_Mutation	SNP	T	TCGA-X4-A8KQ-01A-12D-A364-08	36890349	150529231	98721390	7	20459											
HMCN1	83872	broad.mit.edu	37	chr1	185951499	185951499	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaatcccattccagaacgtcGgtggattaagaattcagcta	14	10	8	9	2	1	2	1	0	0	2	4	3	3	3	2	2	2	1	2	2	5	4	rs144772706		TCGA-X4-A8KQ-01A-12D-A364-08	TCGA-X4-A8KQ-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04ded7a3-d7f2-43a0-9124-6e5a89a0013c	88958ce2-ad68-4691-967e-716477ec338a	g.chr1:185951499G>A	ENST00000271588.4	+	18	2997	c.2768G>A	c.(2767-2769)cGg>cAg	p.R923Q	HMCN1_ENST00000485744.1_3'UTR|HMCN1_ENST00000367492.2_Missense_Mutation_p.R923Q	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	923	Ig-like C2-type 6.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)	p.R923Q(1)		NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						CCAGAACGTCGGTGGATTAAG	0.378													G|||	1	0.000199681	0	0	5008	,	,		19441	0.001		0	False		,,,				2504	0					ENST00000271588.4																			1	Substitution - Missense(1)	p.R923Q(1)	large_intestine(1)	NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						c.(2767-2769)cGg>cAg		hemicentin 1		G	GLN/ARG	0,4406		0,0,2203	119	116	117		2768	2.3	1	1	dbSNP_134	117	1,8599	1.2+/-3.3	0,1,4299	no	missense	HMCN1	NM_031935.2	43	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	923/5636	185951499	1,13005	2203	4300	6503	SO:0001583	missense	83872				response to stimulus|visual perception	basement membrane	calcium ion binding	g.chr1:185951499G>A	AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"Fibulins", "Immunoglobulin superfamily / I-set domain containing"	19194	protein-coding gene	gene with protein product	"fibulin 6"	608548	"age-related macular degeneration 1 (senile macular degeneration)"	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.2768G>A	1.37:g.185951499G>A	ENSP00000271588:p.Arg923Gln					HMCN1_ENST00000485744.1_3'UTR|HMCN1_ENST00000367492.2_Missense_Mutation_p.R923Q	p.R923Q	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN			18	2997	+			923			Ig-like C2-type 6.		A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Missense_Mutation	SNP	ENST00000271588.4	37	c.2768G>A	CCDS30956.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	14.89	2.669495	0.47677	0.0	1.16E-4	ENSG00000143341	ENST00000271588;ENST00000367492	T;T	0.66280	-0.2;-0.2	4.92	2.34	0.29019	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.327767	0.33110	N	0.005271	T	0.44477	0.1295	L	0.33189	0.99	0.30240	N	0.795063	B;B	0.09022	0.001;0.002	B;B	0.14578	0.002;0.011	T	0.34129	-0.9841	10	0.12103	T	0.63	.	8.8639	0.35274	0.4356:0.0:0.5644:0.0	.	307;923	Q96RW7-3;Q96RW7	.;HMCN1_HUMAN	Q	923	ENSP00000271588:R923Q;ENSP00000356462:R923Q	ENSP00000271588:R923Q	R	+	2	0	HMCN1	184218122	0.994000	0.37717	0.997000	0.53966	0.977000	0.68977	1.293000	0.33353	0.320000	0.23234	0.650000	0.86243	CGG		0.378	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935		35	73	0	0	0	1	0	35	73					A	185951499	G	A	185951499	3	1	423	1	0	0	0	0	1	0	0	0	7220	1116	39	2	2838	2	HMCN1	1	185951499	Missense_Mutation	SNP	G	TCGA-X4-A8KQ-01A-12D-A364-08	35422268	185951499	63299122	8	20460											
ASPM	259266	broad.mit.edu	37	chr1	197061108	197061108	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtaaagtttataggctctttGaattctaacagcattcaggt	12	15	8	6	0	3	1	1	1	2	0	3	1	3	1	0	2	2	4	0	2	6	8			TCGA-X4-A8KQ-01A-12D-A364-08	TCGA-X4-A8KQ-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04ded7a3-d7f2-43a0-9124-6e5a89a0013c	88958ce2-ad68-4691-967e-716477ec338a	g.chr1:197061108G>A	ENST00000367409.4	-	22	9629	c.9373C>T	c.(9373-9375)Caa>Taa	p.Q3125*	ASPM_ENST00000294732.7_Nonsense_Mutation_p.Q1540*|ASPM_ENST00000367408.1_Nonsense_Mutation_p.Q790*	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	3125					developmental growth (GO:0048589)|forebrain neuroblast division (GO:0021873)|maintenance of centrosome location (GO:0051661)|mitotic nuclear division (GO:0007067)|negative regulation of asymmetric cell division (GO:0045769)|negative regulation of neuron differentiation (GO:0045665)|neuron migration (GO:0001764)|oogenesis (GO:0048477)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of neuroblast proliferation (GO:0002052)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle pole (GO:0000922)				breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						TAGGCTCTTTGAATTCTAACA	0.363																																						ENST00000367409.4																			0				breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						c.(9373-9375)Caa>Taa		asp (abnormal spindle) homolog, microcephaly associated (Drosophila)							94	97	96					1																	197061108		2203	4300	6503	SO:0001587	stop_gained	259266				mitosis	cytoplasm|nucleus	calmodulin binding	g.chr1:197061108G>A	AY367065	CCDS1389.1, CCDS55672.1	1q31	2008-02-05	2006-09-12		ENSG00000066279	ENSG00000066279			19048	protein-coding gene	gene with protein product		605481	"microcephaly, primary autosomal recessive 5", "asp (abnormal spindle)-like, microcephaly associated (Drosophila)"	MCPH5		11078481	Standard	NM_018136		Approved	Calmbp1, ASP, FLJ10517, FLJ10549	uc001gtu.3	Q8IZT6	OTTHUMG00000036277	ENST00000367409.4:c.9373C>T	1.37:g.197061108G>A	ENSP00000356379:p.Gln3125*					ASPM_ENST00000294732.7_Nonsense_Mutation_p.Q1540*|ASPM_ENST00000367408.1_Nonsense_Mutation_p.Q790*	p.Q3125*	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN			22	9629	-			3125					Q4G1H1|Q5VYL3|Q86UX4|Q8IUL2|Q8IZJ7|Q8IZJ8|Q8IZJ9|Q8N4D1|Q9NVS1|Q9NVT6	Nonsense_Mutation	SNP	ENST00000367409.4	37	c.9373C>T	CCDS1389.1	.	.	.	.	.	.	.	.	.	.	G	51	17.341612	0.99884	.	.	ENSG00000066279	ENST00000367409;ENST00000294732;ENST00000367408;ENST00000367406	.	.	.	5.28	5.28	0.74379	.	0.068840	0.64402	D	0.000016	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	17.4649	0.87629	0.0:0.0:1.0:0.0	.	.	.	.	X	3125;1540;790;1111	.	ENSP00000294732:Q1540X	Q	-	1	0	ASPM	195327731	1.000000	0.71417	0.991000	0.47740	0.393000	0.30537	7.307000	0.78920	2.641000	0.89580	0.650000	0.86243	CAA		0.363	ASPM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000088256.1	NM_018136		20	51	0	0	0	1	0	20	51					A	197061108	G	A	197061108	4	1	423	1	0	0	0	0	0	1	0	0	1056	1299	45	3	1088	3	ASPM	1	197061108	Nonsense_Mutation	SNP	G	TCGA-X4-A8KQ-01A-12D-A364-08	11109609	197061108	52189513	9	20461											
ATP2B4	493	broad.mit.edu	37	chr1	203677049	203677049	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcttgtgagaccatgggcaaCgccaccgccatctgctctga	8	8	11	14	2	2	2	0	2	2	1	2	3	2	2	4	1	2	3	4	1	1	1	rs539003097		TCGA-X4-A8KQ-01A-12D-A364-08	TCGA-X4-A8KQ-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04ded7a3-d7f2-43a0-9124-6e5a89a0013c	88958ce2-ad68-4691-967e-716477ec338a	g.chr1:203677049C>T	ENST00000357681.5	+	10	2497	c.1374C>T	c.(1372-1374)aaC>aaT	p.N458N	ATP2B4_ENST00000341360.2_Silent_p.N458N|ATP2B4_ENST00000391954.2_Silent_p.N458N|ATP2B4_ENST00000367219.3_Silent_p.N446N|ATP2B4_ENST00000367218.3_Silent_p.N458N	NM_001684.4	NP_001675.3	P23634	AT2B4_HUMAN	ATPase, Ca++ transporting, plasma membrane 4	458					blood coagulation (GO:0007596)|calcium ion homeostasis (GO:0055074)|calcium ion import across plasma membrane (GO:0098703)|calcium ion transmembrane transport (GO:0070588)|cellular calcium ion homeostasis (GO:0006874)|cellular response to epinephrine stimulus (GO:0071872)|ion transmembrane transport (GO:0034220)|negative regulation of adrenergic receptor signaling pathway involved in heart process (GO:1901205)|negative regulation of arginine catabolic process (GO:1900082)|negative regulation of calcineurin-NFAT signaling cascade (GO:0070885)|negative regulation of cardiac muscle hypertrophy in response to stress (GO:1903243)|negative regulation of citrulline biosynthetic process (GO:1903249)|negative regulation of nitric oxide biosynthetic process (GO:0045019)|negative regulation of nitric oxide mediated signal transduction (GO:0010751)|negative regulation of nitric-oxide synthase activity (GO:0051001)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of the force of heart contraction (GO:0098736)|positive regulation of cAMP-dependent protein kinase activity (GO:2000481)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of sodium ion transmembrane transport (GO:1902305)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to hydrostatic pressure (GO:0051599)|transmembrane transport (GO:0055085)	caveola (GO:0005901)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|calmodulin binding (GO:0005516)|metal ion binding (GO:0046872)|nitric-oxide synthase binding (GO:0050998)|protein phosphatase 2B binding (GO:0030346)|scaffold protein binding (GO:0097110)			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(20)|ovary(2)|prostate(6)|skin(1)|stomach(1)|urinary_tract(3)	56	all_cancers(21;0.071)|all_epithelial(62;0.228)		BRCA - Breast invasive adenocarcinoma(75;0.109)			CCATGGGCAACGCCACCGCCA	0.473													C|||	1	0.000199681	0	0	5008	,	,		20929	0		0	False		,,,				2504	0.001					ENST00000357681.5																			0				NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(20)|ovary(2)|prostate(6)|skin(1)|stomach(1)|urinary_tract(3)	56						c.(1372-1374)aaC>aaT		ATPase, Ca++ transporting, plasma membrane 4							132	119	123					1																	203677049		2203	4300	6503	SO:0001819	synonymous_variant	493				ATP biosynthetic process|platelet activation	integral to plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding	g.chr1:203677049C>T	M25874	CCDS1440.1, CCDS30977.1	1q32.1	2010-04-20	2005-05-26		ENSG00000058668	ENSG00000058668	3.6.3.8	"ATPases / P-type"	817	protein-coding gene	gene with protein product	"plasma membrane calcium-transporting ATPase 4"	108732	"matrix-remodelling associated 1"	ATP2B2, MXRA1		1674727	Standard	NM_001001396		Approved	PMCA4	uc001gzw.3	P23634	OTTHUMG00000035906	ENST00000357681.5:c.1374C>T	1.37:g.203677049C>T						ATP2B4_ENST00000367219.3_Silent_p.N446N|ATP2B4_ENST00000341360.2_Silent_p.N458N|ATP2B4_ENST00000391954.2_Silent_p.N458N|ATP2B4_ENST00000367218.3_Silent_p.N458N	p.N458N	NM_001684.4	NP_001675.3	P23634	AT2B4_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.109)		10	2497	+	all_cancers(21;0.071)|all_epithelial(62;0.228)		458					B1APW5|B1APW6|Q13450|Q13452|Q13455|Q16817|Q7Z3S1	Silent	SNP	ENST00000357681.5	37	c.1374C>T	CCDS1440.1																																																																																				0.473	ATP2B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087462.1	NM_001001396		25	46	0	0	0	1	0	25	46					T	203677049	C	T	203677049	2	4	423	1	0	0	0	0	0	0	0	1	1142	535	19	1		1	ATP2B4	1	203677049	Silent	SNP	C	TCGA-X4-A8KQ-01A-12D-A364-08	6615941	203677049	45573572	10	20462											
DDX1	1653	broad.mit.edu	37	chr2	15770187	15770187	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggatataaaggtaccagtggAtgaatttgatgggaaagtta	15	11	13	2	0	0	2	0	2	0	0	0	5	0	5	1	4	1	2	1	4	7	5			TCGA-X4-A8KQ-01A-12D-A364-08	TCGA-X4-A8KQ-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04ded7a3-d7f2-43a0-9124-6e5a89a0013c	88958ce2-ad68-4691-967e-716477ec338a	g.chr2:15770187A>G	ENST00000381341.2	+	26	2434	c.2045A>G	c.(2044-2046)gAt>gGt	p.D682G	DDX1_ENST00000233084.3_Missense_Mutation_p.D682G			Q92499	DDX1_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 1	682	Necessary for interaction with HNRNPK.				ATP catabolic process (GO:0006200)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|multicellular organismal development (GO:0007275)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translational initiation (GO:0006446)|response to exogenous dsRNA (GO:0043330)|response to virus (GO:0009615)|spliceosomal complex assembly (GO:0000245)|transcription, DNA-templated (GO:0006351)|tRNA splicing, via endonucleolytic cleavage and ligation (GO:0006388)	cleavage body (GO:0071920)|cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|tRNA-splicing ligase complex (GO:0072669)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA/RNA helicase activity (GO:0033677)|double-stranded RNA binding (GO:0003725)|exonuclease activity (GO:0004527)|nuclease activity (GO:0004518)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724)|transcription cofactor activity (GO:0003712)			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(13)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	29	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.197)	all_epithelial(98;2.96e-07)|Acute lymphoblastic leukemia(84;4.24e-05)|Ovarian(717;0.0694)	GBM - Glioblastoma multiforme(3;0.00969)	Epithelial(75;4.35e-05)|OV - Ovarian serous cystadenocarcinoma(76;0.133)		GTACCAGTGGATGAATTTGAT	0.353																																						ENST00000381341.2																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(13)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	29						c.(2044-2046)gAt>gGt		DEAD (Asp-Glu-Ala-Asp) box helicase 1							99	106	104					2																	15770187		2203	4300	6503	SO:0001583	missense	1653				DNA duplex unwinding|double-strand break repair|multicellular organismal development|regulation of transcription, DNA-dependent|regulation of translational initiation|spliceosome assembly|transcription, DNA-dependent	cleavage body|stress granule|tRNA-splicing ligase complex	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|DNA/RNA helicase activity|exonuclease activity|poly(A) RNA binding|protein binding|RNA helicase activity|transcription cofactor activity	g.chr2:15770187A>G	X70649	CCDS1686.1	2p24	2012-02-23	2012-02-23		ENSG00000079785	ENSG00000079785		"DEAD-boxes"	2734	protein-coding gene	gene with protein product		601257	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 1", "DEAD (Asp-Glu-Ala-Asp) box polypeptide 1"			1552844, 19058135	Standard	NM_004939		Approved	DBP-RB	uc002rce.4	Q92499	OTTHUMG00000090593	ENST00000381341.2:c.2045A>G	2.37:g.15770187A>G	ENSP00000370745:p.Asp682Gly					DDX1_ENST00000233084.3_Missense_Mutation_p.D682G	p.D682G			Q92499	DDX1_HUMAN	GBM - Glioblastoma multiforme(3;0.00969)	Epithelial(75;4.35e-05)|OV - Ovarian serous cystadenocarcinoma(76;0.133)	26	2434	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.197)	all_epithelial(98;2.96e-07)|Acute lymphoblastic leukemia(84;4.24e-05)|Ovarian(717;0.0694)	682			Necessary for interaction with HNRNPK.		B4DME8|B4DPN6	Missense_Mutation	SNP	ENST00000381341.2	37	c.2045A>G	CCDS1686.1	.	.	.	.	.	.	.	.	.	.	A	19.90	3.912198	0.72983	.	.	ENSG00000079785	ENST00000381341;ENST00000233084	T;T	0.42513	0.97;0.97	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.48223	0.1488	M	0.77103	2.36	0.80722	D	1	B	0.33777	0.425	B	0.32465	0.146	T	0.48625	-0.9019	10	0.45353	T	0.12	-28.5815	16.8222	0.85835	1.0:0.0:0.0:0.0	.	682	Q92499	DDX1_HUMAN	G	682	ENSP00000370745:D682G;ENSP00000233084:D682G	ENSP00000233084:D682G	D	+	2	0	DDX1	15687638	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.283000	0.95860	2.371000	0.80710	0.533000	0.62120	GAT		0.353	DDX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207141.2	NM_004939		30	103	0	0	0	1	0	30	103					G	15770187	A	G	15770187	3	3	423	1	0	0	0	0	1	0	0	0	4341	333	12	4	2143	4	DDX1	2	15770187	Missense_Mutation	SNP	A	TCGA-X4-A8KQ-01A-12D-A364-08		15770187	227429186	11	20463											
NEB	4703	broad.mit.edu	37	chr2	152529086	152529086	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttcttgtattcacgatcagActgcagctttgccacattca	9	14	6	12	1	4	1	3	0	1	1	4	2	4	1	1	0	3	3	1	0	1	6			TCGA-X4-A8KQ-01A-12D-A364-08	TCGA-X4-A8KQ-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04ded7a3-d7f2-43a0-9124-6e5a89a0013c	88958ce2-ad68-4691-967e-716477ec338a	g.chr2:152529086A>G	ENST00000172853.10	-	37	4243	c.4096T>C	c.(4096-4098)Tct>Cct	p.S1366P	NEB_ENST00000397345.3_Missense_Mutation_p.S1366P|NEB_ENST00000603639.1_Missense_Mutation_p.S1366P|NEB_ENST00000409198.1_Missense_Mutation_p.S1366P|NEB_ENST00000604864.1_Missense_Mutation_p.S1366P|NEB_ENST00000427231.2_Missense_Mutation_p.S1366P			P20929	NEBU_HUMAN	nebulin	1366					muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		TCACGATCAGACTGCAGCTTT	0.478																																						ENST00000427231.2																			0				NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301						c.(4096-4098)Tct>Cct		nebulin							138	134	135					2																	152529086		1964	4141	6105	SO:0001583	missense	4703				muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle	g.chr2:152529086A>G	X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"nemaline myopathy type 2"	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.4096T>C	2.37:g.152529086A>G	ENSP00000172853:p.Ser1366Pro					NEB_ENST00000409198.1_Missense_Mutation_p.S1366P|NEB_ENST00000397345.3_Missense_Mutation_p.S1366P|NEB_ENST00000172853.10_Missense_Mutation_p.S1366P|NEB_ENST00000604864.1_Missense_Mutation_p.S1366P|NEB_ENST00000603639.1_Missense_Mutation_p.S1366P	p.S1366P	NM_001164507.1	NP_001157979.1	P20929	NEBU_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.219)	37	4298	-			1366					F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Missense_Mutation	SNP	ENST00000172853.10	37	c.4096T>C		.	.	.	.	.	.	.	.	.	.	A	17.88	3.496913	0.64186	.	.	ENSG00000183091	ENST00000409198;ENST00000397345;ENST00000427231;ENST00000172853	D;D;D;D	0.82526	-1.62;-1.62;-1.62;-1.62	5.92	5.92	0.95590	.	0.119017	0.56097	D	0.000024	D	0.92675	0.7672	M	0.92604	3.325	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.93983	0.7260	10	0.87932	D	0	.	12.5753	0.56359	0.8758:0.0:0.0:0.1242	.	1366	P20929	NEBU_HUMAN	P	1366	ENSP00000386259:S1366P;ENSP00000380505:S1366P;ENSP00000416578:S1366P;ENSP00000172853:S1366P	ENSP00000172853:S1366P	S	-	1	0	NEB	152237332	1.000000	0.71417	0.995000	0.50966	0.501000	0.33797	4.011000	0.57124	2.277000	0.76020	0.528000	0.53228	TCT		0.478	NEB-201	KNOWN	basic	protein_coding	protein_coding		NM_004543		29	67	0	0	0	1	0	29	67					G	152529086	A	G	152529086	3	3	423	1	0	0	0	0	1	0	0	0	10302	275	10	4	22174	4	NEB	2	152529086	Missense_Mutation	SNP	A	TCGA-X4-A8KQ-01A-12D-A364-08	136758899	152529086	90670287	12	20464											
ITGA4	3676	broad.mit.edu	37	chr2	182395293	182395293	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgaaaattatcaaagagtgTgtgcattagagcagcaaaag	17	10	10	4	0	1	3	1	1	0	2	1	3	1	3	0	0	3	3	0	0	7	3			TCGA-X4-A8KQ-01A-12D-A364-08	TCGA-X4-A8KQ-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04ded7a3-d7f2-43a0-9124-6e5a89a0013c	88958ce2-ad68-4691-967e-716477ec338a	g.chr2:182395293T>C	ENST00000397033.2	+	24	3011	c.2581T>C	c.(2581-2583)Tgt>Cgt	p.C861R		NM_000885.4	NP_000876.3	P13612	ITA4_HUMAN	integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor)	861					B cell differentiation (GO:0030183)|blood coagulation (GO:0007596)|blood vessel remodeling (GO:0001974)|cell-matrix adhesion (GO:0007160)|cell-matrix adhesion involved in ameboidal cell migration (GO:0003366)|chorio-allantoic fusion (GO:0060710)|endodermal cell differentiation (GO:0035987)|extracellular matrix organization (GO:0030198)|face development (GO:0060324)|heart development (GO:0007507)|heterophilic cell-cell adhesion (GO:0007157)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte tethering or rolling (GO:0050901)|negative regulation of protein homodimerization activity (GO:0090074)|receptor clustering (GO:0043113)|regulation of immune response (GO:0050776)|substrate adhesion-dependent cell spreading (GO:0034446)|T cell migration (GO:0072678)	cell surface (GO:0009986)|cell-cell junction (GO:0005911)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integrin alpha4-beta7 complex (GO:0034669)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|metal ion binding (GO:0046872)			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.0593)		Natalizumab(DB00108)|Tinzaparin(DB06822)	TCAAAGAGTGTGTGCATTAGA	0.383																																						ENST00000397033.2																			0				breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58						c.(2581-2583)Tgt>Cgt		integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor)	Natalizumab(DB00108)						145	128	134					2																	182395293		1874	4114	5988	SO:0001583	missense	3676				blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response	integrin complex	identical protein binding|receptor activity	g.chr2:182395293T>C		CCDS42788.1	2q31-q32	2010-03-23			ENSG00000115232	ENSG00000115232		"CD molecules", "Integrins"	6140	protein-coding gene	gene with protein product		192975		CD49D		1537388	Standard	NM_000885		Approved	CD49d	uc002unu.3	P13612	OTTHUMG00000154212	ENST00000397033.2:c.2581T>C	2.37:g.182395293T>C	ENSP00000380227:p.Cys861Arg						p.C861R	NM_000885.4	NP_000876.3	P13612	ITA4_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0593)		24	3011	+			861					D3DPG4|Q7Z4L6	Missense_Mutation	SNP	ENST00000397033.2	37	c.2581T>C	CCDS42788.1	.	.	.	.	.	.	.	.	.	.	T	15.97	2.989901	0.54041	.	.	ENSG00000115232	ENST00000397033	T	0.44881	0.91	5.56	5.56	0.83823	Integrin alpha-2 (1);	0.146472	0.64402	D	0.000006	T	0.61060	0.2317	M	0.71036	2.16	0.49483	D	0.999791	D	0.76494	0.999	D	0.71184	0.972	T	0.61720	-0.7005	10	0.44086	T	0.13	.	12.3958	0.55384	0.0:0.0:0.0:1.0	.	861	P13612	ITA4_HUMAN	R	861	ENSP00000380227:C861R	ENSP00000380227:C861R	C	+	1	0	ITGA4	182103538	0.997000	0.39634	0.094000	0.20943	0.021000	0.10359	4.287000	0.59001	2.237000	0.73441	0.460000	0.39030	TGT		0.383	ITGA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334427.1			23	51	0	0	0	1	0	23	51					C	182395293	T	C	182395293	3	2	423	1	0	0	0	0	1	0	0	0	7878	1696	59	4	2675	4	ITGA4	2	182395293	Missense_Mutation	SNP	T	TCGA-X4-A8KQ-01A-12D-A364-08	29866207	182395293	60804080	13	20465											
KIAA1486	57624	broad.mit.edu	37	chr2	226447623	226447623	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcggtgaacacctacggggCagccccgggtggctcccggt	5	5	16	15	5	0	1	0	1	0	0	1	1	1	1	4	6	3	2	4	6	2	1			TCGA-X4-A8KQ-01A-12D-A364-08	TCGA-X4-A8KQ-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04ded7a3-d7f2-43a0-9124-6e5a89a0013c	88958ce2-ad68-4691-967e-716477ec338a	g.chr2:226447623C>A	ENST00000272907.6	+	4	1903	c.1490C>A	c.(1489-1491)gCa>gAa	p.A497E	NYAP2_ENST00000409269.2_Intron	NM_020864.1	NP_065915.1	Q9P242	NYAP2_HUMAN	neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2	497					neuron projection morphogenesis (GO:0048812)|phosphatidylinositol 3-kinase signaling (GO:0014065)												ACCTACGGGGCAGCCCCGGGT	0.677																																						ENST00000272907.6																			0											c.(1489-1491)gCa>gAa		neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2							20	25	24					2																	226447623		1942	4130	6072	SO:0001583	missense	57624							g.chr2:226447623C>A	AB040919	CCDS46529.1	2q36.3	2011-11-30	2011-11-30	2011-11-30	ENSG00000144460	ENSG00000144460			29291	protein-coding gene	gene with protein product		615478	"KIAA1486"	KIAA1486		10819331, 21946561	Standard	NM_020864		Approved		uc002voe.2	Q9P242	OTTHUMG00000153450	ENST00000272907.6:c.1490C>A	2.37:g.226447623C>A	ENSP00000272907:p.Ala497Glu					NYAP2_ENST00000409269.2_Intron	p.A497E	NM_020864.1	NP_065915.1	Q9P242	K1486_HUMAN			4	1903	+			497					A2RRN4|Q96NL2	Missense_Mutation	SNP	ENST00000272907.6	37	c.1490C>A	CCDS46529.1	.	.	.	.	.	.	.	.	.	.	C	2.238	-0.374441	0.05034	.	.	ENSG00000144460	ENST00000272907	T	0.30981	1.51	5.45	3.62	0.41486	.	0.496097	0.22906	N	0.054185	T	0.22589	0.0545	N	0.19112	0.55	0.58432	D	0.999999	B;B	0.22003	0.05;0.063	B;B	0.26202	0.049;0.067	T	0.02257	-1.1187	10	0.24483	T	0.36	-1.42	15.8904	0.79293	0.0:0.7453:0.2547:0.0	.	11;497	Q9P242-3;Q9P242	.;K1486_HUMAN	E	497	ENSP00000272907:A497E	ENSP00000272907:A497E	A	+	2	0	KIAA1486	226155867	0.992000	0.36948	0.003000	0.11579	0.001000	0.01503	7.416000	0.80143	0.643000	0.30638	-0.955000	0.02649	GCA		0.677	NYAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331258.1	NM_020864		6	34	1	0	0.248553	1	0.248553	6	34					A	226447623	C	A	226447623	3	1	423	1	0	0	0	0	1	0	0	0	8237	710	25	5	1500	5	KIAA1486	2	226447623	Missense_Mutation	SNP	C	TCGA-X4-A8KQ-01A-12D-A364-08	44052330	226447623	16751750	14	20466											
SLC6A6	6533	broad.mit.edu	37	chr3	14518782	14518782	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccttcctaaggaagggttatCgtcgggaaatcttcatcgcc	9	11	10	11	3	2	0	1	0	1	0	6	2	3	2	3	3	0	1	3	3	4	4			TCGA-X4-A8KQ-01A-12D-A364-08	TCGA-X4-A8KQ-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04ded7a3-d7f2-43a0-9124-6e5a89a0013c	88958ce2-ad68-4691-967e-716477ec338a	g.chr3:14518782C>T	ENST00000454876.2	+	11	1608	c.1279C>T	c.(1279-1281)Cgt>Tgt	p.R427C	SLC6A6_ENST00000360861.3_Missense_Mutation_p.R427C			P31641	SC6A6_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 6	427					amino acid transport (GO:0006865)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|taurine transport (GO:0015734)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neurotransmitter:sodium symporter activity (GO:0005328)|taurine binding (GO:0030977)|taurine:sodium symporter activity (GO:0005369)	p.R427C(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(2)	28						GAAGGGTTATCGTCGGGAAAT	0.517																																						ENST00000454876.2																			1	Substitution - Missense(1)	p.R427C(1)	skin(1)	NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(2)	28						c.(1279-1281)Cgt>Tgt		solute carrier family 6 (neurotransmitter transporter), member 6							193	158	170					3																	14518782		2203	4300	6503	SO:0001583	missense	6533				cellular amino acid metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity|taurine:sodium symporter activity	g.chr3:14518782C>T		CCDS33705.1, CCDS46765.1	3p25.1	2013-07-19	2013-07-19		ENSG00000131389	ENSG00000131389		"Solute carriers"	11052	protein-coding gene	gene with protein product	"taurine transporter"	186854	"solute carrier family 6 (neurotransmitter transporter, taurine), member 6"			8010975, 8382624	Standard	XM_006713307		Approved	TAUT	uc010heg.4	P31641	OTTHUMG00000155525	ENST00000454876.2:c.1279C>T	3.37:g.14518782C>T	ENSP00000398063:p.Arg427Cys					SLC6A6_ENST00000360861.3_Missense_Mutation_p.R427C	p.R427C			P31641	SC6A6_HUMAN			11	1608	+			427					B2RNU7|Q9BRI2|Q9BXB0	Missense_Mutation	SNP	ENST00000454876.2	37	c.1279C>T	CCDS33705.1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.290497	0.80914	.	.	ENSG00000131389	ENST00000454876;ENST00000360861	T;T	0.76186	-1.0;-1.0	4.73	4.73	0.59995	.	0.221537	0.48286	D	0.000193	T	0.73202	0.3557	L	0.50993	1.605	0.80722	D	1	P	0.36599	0.56	B	0.39027	0.288	T	0.77659	-0.2505	10	0.87932	D	0	.	18.0768	0.89430	0.0:1.0:0.0:0.0	.	427	P31641	SC6A6_HUMAN	C	427	ENSP00000398063:R427C;ENSP00000354107:R427C	ENSP00000354107:R427C	R	+	1	0	SLC6A6	14493786	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.750000	0.85110	2.325000	0.78763	0.491000	0.48974	CGT		0.517	SLC6A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340507.1	NM_003043		28	51	0	0	0	1	0	28	51					T	14518782	C	T	14518782	3	4	423	1	0	0	0	0	1	0	0	0	14688	884	31	2	1317	2	SLC6A6	3	14518782	Missense_Mutation	SNP	C	TCGA-X4-A8KQ-01A-12D-A364-08		14518782	183503648	15	20467											
PTPN23	25930	broad.mit.edu	37	chr3	47450483	47450483	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ttcaccaacagtgagctgcaCcgtgccatgaacctgcacgt	10	8	9	14	2	1	2	1	2	0	0	1	2	1	2	4	0	6	3	4	0	2	1	rs151244361		TCGA-X4-A8KQ-01A-12D-A364-08	TCGA-X4-A8KQ-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04ded7a3-d7f2-43a0-9124-6e5a89a0013c	88958ce2-ad68-4691-967e-716477ec338a	g.chr3:47450483C>T	ENST00000265562.4	+	16	1625	c.1548C>T	c.(1546-1548)caC>caT	p.H516H	PTPN23_ENST00000431726.1_Silent_p.H390H	NM_015466.2	NP_056281.1	Q9H3S7	PTN23_HUMAN	protein tyrosine phosphatase, non-receptor type 23	516					cilium morphogenesis (GO:0060271)|negative regulation of epithelial cell migration (GO:0010633)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of adherens junction organization (GO:1903393)|positive regulation of early endosome to late endosome transport (GO:2000643)|positive regulation of homophilic cell adhesion (GO:1903387)|protein transport (GO:0015031)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)	ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)			breast(3)|central_nervous_system(1)|large_intestine(5)|lung(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	23				BRCA - Breast invasive adenocarcinoma(193;0.000271)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		GTGAGCTGCACCGTGCCATGA	0.642																																						ENST00000265562.4																			0				breast(3)|central_nervous_system(1)|large_intestine(5)|lung(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	23						c.(1546-1548)caC>caT		protein tyrosine phosphatase, non-receptor type 23		C		0,4406		0,0,2203	117	106	110		1548	1.4	1	3	dbSNP_134	110	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	PTPN23	NM_015466.2		0,2,6501	TT,TC,CC		0.0233,0.0,0.0154		516/1637	47450483	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	25930				cilium morphogenesis	cilium|cytoplasmic membrane-bounded vesicle|microtubule basal body	protein tyrosine phosphatase activity	g.chr3:47450483C>T	AB025194	CCDS2754.1	3p21.3	2011-06-09			ENSG00000076201	ENSG00000076201		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"	14406	protein-coding gene	gene with protein product		606584				11095967	Standard	NM_015466		Approved	DKFZP564F0923, KIAA1471, HD-PTP	uc003crf.1	Q9H3S7	OTTHUMG00000133520	ENST00000265562.4:c.1548C>T	3.37:g.47450483C>T						PTPN23_ENST00000431726.1_Silent_p.H390H	p.H516H	NM_015466.2	NP_056281.1	Q9H3S7	PTN23_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000271)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)	16	1625	+			516					A8K0D7|Q7KZF8|Q8N6Z5|Q9BSR5|Q9P257|Q9UG03|Q9UMZ4	Silent	SNP	ENST00000265562.4	37	c.1548C>T	CCDS2754.1																																																																																				0.642	PTPN23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257492.2	NM_015466		9	77	0	0	0	1	0	9	77					T	47450483	C	T	47450483	2	4	423	1	0	0	0	0	0	0	0	1	12788	506	18	3		3	PTPN23	3	47450483	Silent	SNP	C	TCGA-X4-A8KQ-01A-12D-A364-08	32931701	47450483	150571947	16	20468											
NISCH	11188	broad.mit.edu	37	chr3	52525926	52525926	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agctgatccactctagtcgcGtcaagtttacctaccccagt	9	11	7	14	2	2	1	1	1	1	0	4	1	3	1	4	0	3	2	4	0	4	4			TCGA-X4-A8KQ-01A-12D-A364-08	TCGA-X4-A8KQ-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04ded7a3-d7f2-43a0-9124-6e5a89a0013c	88958ce2-ad68-4691-967e-716477ec338a	g.chr3:52525926G>A	ENST00000479054.1	+	22	4015	c.3943G>A	c.(3943-3945)Gtc>Atc	p.V1315I	NISCH_ENST00000345716.4_Missense_Mutation_p.V1315I			Q9Y2I1	NISCH_HUMAN	nischarin	1315					actin cytoskeleton organization (GO:0030036)|apoptotic process (GO:0006915)|glucose metabolic process (GO:0006006)|negative regulation of cell migration (GO:0030336)|norepinephrine secretion (GO:0048243)|Rac protein signal transduction (GO:0016601)|regulation of blood pressure (GO:0008217)|regulation of synaptic transmission, GABAergic (GO:0032228)	cytosol (GO:0005829)|endosome (GO:0005768)|membrane (GO:0016020)|plasma membrane (GO:0005886)	G-protein coupled amine receptor activity (GO:0008227)|identical protein binding (GO:0042802)|phosphatidylinositol binding (GO:0035091)			NS(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	33				BRCA - Breast invasive adenocarcinoma(193;1.93e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)|OV - Ovarian serous cystadenocarcinoma(275;0.0577)	Tizanidine(DB00697)	CTCTAGTCGCGTCAAGTTTAC	0.597																																						ENST00000345716.4																			0				NS(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	33						c.(3943-3945)Gtc>Atc		nischarin							98	97	97					3																	52525926		2203	4300	6503	SO:0001583	missense	11188				apoptosis|cell communication	cytosol|early endosome|plasma membrane|recycling endosome	phosphatidylinositol binding|receptor activity	g.chr3:52525926G>A	AF082516	CCDS33767.1, CCDS63651.1, CCDS63652.1	3p21.1	2008-07-18			ENSG00000010322	ENSG00000010322			18006	protein-coding gene	gene with protein product	"imidazoline receptor candidate", "I-1 receptor candidate protein", "imidazoline receptor antisera selected"	615507				11912194, 10882231	Standard	NM_007184		Approved	KIAA0975, I-1, IRAS	uc003ded.4	Q9Y2I1	OTTHUMG00000158571	ENST00000479054.1:c.3943G>A	3.37:g.52525926G>A	ENSP00000418232:p.Val1315Ile					NISCH_ENST00000479054.1_Missense_Mutation_p.V1315I	p.V1315I	NM_007184.3	NP_009115.2	Q9Y2I1	NISCH_HUMAN		BRCA - Breast invasive adenocarcinoma(193;1.93e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)|OV - Ovarian serous cystadenocarcinoma(275;0.0577)	21	4077	+			1315					C9J245|Q6PGP3|Q6PIB4|Q7L8M3|Q7Z2X6|Q9UES6|Q9UEU4|Q9UFW3	Missense_Mutation	SNP	ENST00000479054.1	37	c.3943G>A	CCDS33767.1	.	.	.	.	.	.	.	.	.	.	G	27.3	4.822482	0.90873	.	.	ENSG00000010322	ENST00000479054;ENST00000345716;ENST00000433196;ENST00000414197	T;T	0.16324	2.35;2.35	5.6	5.6	0.85130	.	0.000000	0.85682	D	0.000000	T	0.34019	0.0883	L	0.32530	0.975	0.53688	D	0.999971	D	0.76494	0.999	D	0.72982	0.979	T	0.03706	-1.1011	10	0.72032	D	0.01	-44.0304	19.6109	0.95606	0.0:0.0:1.0:0.0	.	1315	Q9Y2I1	NISCH_HUMAN	I	1315;1315;239;659	ENSP00000418232:V1315I;ENSP00000339958:V1315I	ENSP00000339958:V1315I	V	+	1	0	NISCH	52500966	1.000000	0.71417	0.975000	0.42487	0.923000	0.55619	7.296000	0.78790	2.653000	0.90120	0.491000	0.48974	GTC		0.597	NISCH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351357.1	NM_007184		3	61	0	0	0	1	0	3	61					A	52525926	G	A	52525926	3	1	423	1	0	0	0	0	1	0	0	0	10432	1145	40	1	4025	1	NISCH	3	52525926	Missense_Mutation	SNP	G	TCGA-X4-A8KQ-01A-12D-A364-08	5075443	52525926	145496504	17	20469											
IRX1	79192	broad.mit.edu	37	chr5	3599422	3599422	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcgccggcttattacccctaCggccagttccaatacgggga	8	8	11	14	4	0	0	0	0	0	0	1	1	1	1	5	4	3	2	5	4	5	5			TCGA-X4-A8KQ-01A-12D-A364-08	TCGA-X4-A8KQ-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04ded7a3-d7f2-43a0-9124-6e5a89a0013c	88958ce2-ad68-4691-967e-716477ec338a	g.chr5:3599422C>T	ENST00000302006.3	+	2	412	c.360C>T	c.(358-360)taC>taT	p.Y120Y	CTD-2012M11.3_ENST00000559410.1_RNA	NM_024337.3	NP_077313.3	P78414	IRX1_HUMAN	iroquois homeobox 1	120					proximal/distal pattern formation involved in metanephric nephron development (GO:0072272)|regulation of transcription, DNA-templated (GO:0006355)|specification of loop of Henle identity (GO:0072086)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			biliary_tract(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|pancreas(1)|prostate(5)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						ATTACCCCTACGGCCAGTTCC	0.657																																						ENST00000302006.3																			0				biliary_tract(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|pancreas(1)|prostate(5)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						c.(358-360)taC>taT		iroquois homeobox 1							41	46	44					5																	3599422		2203	4299	6502	SO:0001819	synonymous_variant	79192					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr5:3599422C>T	U90307	CCDS34132.1	5p15.33	2011-12-16	2007-07-13		ENSG00000170549	ENSG00000170549		"Homeoboxes / TALE class"	14358	protein-coding gene	gene with protein product		606197					Standard	NM_024337		Approved	IRX-5	uc003jde.3	P78414	OTTHUMG00000161632	ENST00000302006.3:c.360C>T	5.37:g.3599422C>T						CTD-2012M11.3_ENST00000559410.1_RNA	p.Y120Y	NM_024337.3	NP_077313.3	P78414	IRX1_HUMAN			2	412	+			120					Q7Z2F8|Q8N312	Silent	SNP	ENST00000302006.3	37	c.360C>T	CCDS34132.1																																																																																				0.657	IRX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365546.1	NM_024337		4	37	0	0	0	1	0	4	37					T	3599422	C	T	3599422	2	4	423	1	0	0	0	0	0	0	0	1	7843	547	19	1		1	IRX1	5	3599422	Silent	SNP	C	TCGA-X4-A8KQ-01A-12D-A364-08		3599422	177315838	18	20470											
SEMA5A	9037	broad.mit.edu	37	chr5	9122875	9122875	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagaggcaggatcccacggcGctgccatctgtgtgcgtgca	7	7	14	13	3	1	1	0	0	1	1	2	2	2	2	2	3	3	3	2	3	0	0	rs141153482		TCGA-X4-A8KQ-01A-12D-A364-08	TCGA-X4-A8KQ-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04ded7a3-d7f2-43a0-9124-6e5a89a0013c	88958ce2-ad68-4691-967e-716477ec338a	g.chr5:9122875G>A	ENST00000382496.5	-	14	2339	c.1674C>T	c.(1672-1674)agC>agT	p.S558S		NM_003966.2	NP_003957.2	Q13591	SEM5A_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A	558	TSP type-1 1. {ECO:0000255|PROSITE- ProRule:PRU00210}.				axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|blood vessel endothelial cell proliferation involved in sprouting angiogenesis (GO:0002043)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell-cell signaling (GO:0007267)|diencephalon development (GO:0021536)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of cell adhesion (GO:0007162)|negative regulation of endothelial cell apoptotic process (GO:2000352)|nervous system development (GO:0007399)|patterning of blood vessels (GO:0001569)|positive chemotaxis (GO:0050918)|positive regulation of actin filament depolymerization (GO:0030836)|positive regulation of angiogenesis (GO:0045766)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of protein kinase B signaling (GO:0051897)|signal clustering (GO:1990256)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	axon guidance receptor activity (GO:0008046)|chondroitin sulfate proteoglycan binding (GO:0035373)|heparan sulfate proteoglycan binding (GO:0043395)|semaphorin receptor binding (GO:0030215)|syndecan binding (GO:0045545)			biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	81						ATCCCACGGCGCTGCCATCTG	0.637													G|||	1	0.000199681	0	0	5008	,	,		12410	0		0	False		,,,				2504	0.001					ENST00000382496.5																			0				biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	81						c.(1672-1674)agC>agT		sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A		G		0,4406		0,0,2203	59	61	60		1674	-4	0.1	5	dbSNP_134	60	2,8598	1.2+/-3.3	0,2,4298	no	coding-synonymous	SEMA5A	NM_003966.2		0,2,6501	AA,AG,GG		0.0233,0.0,0.0154		558/1075	9122875	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	9037				cell adhesion|cell-cell signaling	integral to membrane|plasma membrane		g.chr5:9122875G>A	U52840	CCDS3875.1	5p15.2	2008-05-15			ENSG00000112902	ENSG00000112902		"Semaphorins"	10736	protein-coding gene	gene with protein product		609297		SEMAF		8817451, 9464278	Standard	NM_003966		Approved	semF	uc003jek.2	Q13591	OTTHUMG00000090501	ENST00000382496.5:c.1674C>T	5.37:g.9122875G>A							p.S558S	NM_003966.2	NP_003957.2	Q13591	SEM5A_HUMAN			14	2339	-			558			TSP type-1 1.		D3DTC6|O60408|Q1RLL9	Silent	SNP	ENST00000382496.5	37	c.1674C>T	CCDS3875.1																																																																																				0.637	SEMA5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206989.2			7	65	0	0	0	1	0	7	65					A	9122875	G	A	9122875	2	1	423	1	0	0	0	0	0	0	0	1	14037	1078	38	1		1	SEMA5A	5	9122875	Silent	SNP	G	TCGA-X4-A8KQ-01A-12D-A364-08	5523453	9122875	171792385	19	20471											
PHAX	51808	broad.mit.edu	37	chr5	125936738	125936738	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtcgcacccagcgacaggccGctgcaattgccagtgagtgt	8	7	13	13	3	0	1	0	1	0	0	1	2	0	1	3	1	3	3	3	1	1	1			TCGA-X4-A8KQ-01A-12D-A364-08	TCGA-X4-A8KQ-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04ded7a3-d7f2-43a0-9124-6e5a89a0013c	88958ce2-ad68-4691-967e-716477ec338a	g.chr5:125936738G>A	ENST00000297540.4	+	1	779	c.84G>A	c.(82-84)ccG>ccA	p.P28P	PHAX_ENST00000514725.1_3'UTR	NM_032177.3	NP_115553.2	Q9H814	PHAX_HUMAN	phosphorylated adaptor for RNA export	28	Necessary for interaction with CBP80. {ECO:0000250}.				gene expression (GO:0010467)|ncRNA metabolic process (GO:0034660)|protein transport (GO:0015031)|RNA metabolic process (GO:0016070)|snRNA export from nucleus (GO:0006408)|spliceosomal snRNP assembly (GO:0000387)	cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|neuronal cell body (GO:0043025)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	RNA binding (GO:0003723)|toxic substance binding (GO:0015643)			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)	8						GCGACAGGCCGCTGCAATTGC	0.677																																						ENST00000297540.4																			0				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)	8						c.(82-84)ccG>ccA		phosphorylated adaptor for RNA export							41	34	36					5																	125936738		2203	4300	6503	SO:0001819	synonymous_variant	51808				ncRNA metabolic process|protein transport|snRNA export from nucleus|spliceosomal snRNP assembly	Cajal body|cytosol	RNA binding	g.chr5:125936738G>A	AK023255	CCDS4138.1	5q23.2	2011-05-24	2008-10-01	2008-10-01	ENSG00000164902	ENSG00000164902			10241	protein-coding gene	gene with protein product		604924	"RNA U, small nuclear RNA export adaptor (phosphorylation regulated)"	RNUXA		10786834	Standard	NM_032177		Approved	FLJ13193	uc003kua.2	Q9H814	OTTHUMG00000163273	ENST00000297540.4:c.84G>A	5.37:g.125936738G>A						PHAX_ENST00000514725.1_3'UTR	p.P28P	NM_032177.3	NP_115553.2	Q9H814	PHAX_HUMAN			1	779	+			28			Necessary for interaction with CBP80 (By similarity).		Q9H8W1	Silent	SNP	ENST00000297540.4	37	c.84G>A	CCDS4138.1																																																																																				0.677	PHAX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250924.1	NM_032177		4	6	0	0	0	1	0	4	6					A	125936738	G	A	125936738	2	1	423	1	0	0	0	0	0	0	0	1	11813	1074	38	1		1	PHAX	5	125936738	Silent	SNP	G	TCGA-X4-A8KQ-01A-12D-A364-08	116813863	125936738	54978522	20	20472											
PCDHB5	26167	broad.mit.edu	37	chr5	140516147	140516147	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gatccagactccggggacaaCggtaggatgatttgctccat	10	9	12	10	2	0	2	0	1	0	1	3	5	3	4	3	4	2	2	3	4	2	2			TCGA-X4-A8KQ-01A-12D-A364-08	TCGA-X4-A8KQ-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04ded7a3-d7f2-43a0-9124-6e5a89a0013c	88958ce2-ad68-4691-967e-716477ec338a	g.chr5:140516147C>T	ENST00000231134.5	+	1	1348	c.1131C>T	c.(1129-1131)aaC>aaT	p.N377N		NM_015669.2	NP_056484.1	Q9Y5E4	PCDB5_HUMAN	protocadherin beta 5	377	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.N377N(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	81			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCGGGGACAACGGTAGGATGA	0.483																																						ENST00000231134.5																			1	Substitution - coding silent(1)	p.N377N(1)	endometrium(1)	breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	81						c.(1129-1131)aaC>aaT									80	84	83					5																	140516147		2203	4300	6503	SO:0001819	synonymous_variant	0				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding|protein binding	g.chr5:140516147C>T	AF152498	CCDS4247.1	5q31	2010-01-26			ENSG00000113209	ENSG00000113209		"Cadherins / Protocadherins : Clustered"	8690	other	protocadherin		606331				10380929	Standard	NM_015669		Approved	DKFZp586B0217, PCDH-BETA5	uc003liq.3	Q9Y5E4	OTTHUMG00000129616	ENST00000231134.5:c.1131C>T	5.37:g.140516147C>T							p.N377N	NM_015669.2	NP_056484.1	Q9Y5E4	PCDB5_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1348	+			377			Cadherin 4.		Q549F4|Q9UFU9	Silent	SNP	ENST00000231134.5	37	c.1131C>T	CCDS4247.1																																																																																				0.483	PCDHB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251811.1	NM_015669		15	44	0	0	0	1	0	15	44					T	140516147	C	T	140516147	2	4	423	1	0	0	0	0	0	0	0	1	11545	535	19	1		1	PCDHB5	5	140516147	Silent	SNP	C	TCGA-X4-A8KQ-01A-12D-A364-08	14579409	140516147	40399113	21	20473											
BAI3	577	broad.mit.edu	37	chr6	70034878	70034878	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taactggaaaaattaggacaCggcttataagaaaacgcttt	17	10	8	6	2	0	1	0	0	0	1	0	3	0	3	0	3	2	2	0	3	8	5			TCGA-X4-A8KQ-01A-12D-A364-08	TCGA-X4-A8KQ-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04ded7a3-d7f2-43a0-9124-6e5a89a0013c	88958ce2-ad68-4691-967e-716477ec338a	g.chr6:70034878C>T	ENST00000370598.1	+	21	3750	c.2929C>T	c.(2929-2931)Cgg>Tgg	p.R977W	BAI3_ENST00000238918.8_Missense_Mutation_p.R183W	NM_001704.2	NP_001695	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	977					G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				AATTAGGACACGGCTTATAAG	0.408																																						ENST00000370598.1																			0				NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210						c.(2929-2931)Cgg>Tgg		brain-specific angiogenesis inhibitor 3							202	192	196					6																	70034878		2203	4300	6503	SO:0001583	missense	577				negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr6:70034878C>T	AB005299	CCDS4968.1	6q12	2014-08-08			ENSG00000135298	ENSG00000135298		"-", "GPCR / Class B : Orphans"	945	protein-coding gene	gene with protein product		602684				9533023	Standard	NM_001704		Approved	KIAA0550	uc003pev.4	O60242	OTTHUMG00000014982	ENST00000370598.1:c.2929C>T	6.37:g.70034878C>T	ENSP00000359630:p.Arg977Trp					BAI3_ENST00000238918.8_Missense_Mutation_p.R183W	p.R977W	NM_001704.2	NP_001695.1	O60242	BAI3_HUMAN			21	3750	+		all_lung(197;0.212)	977					B7Z1K0|O60297|Q2NKN6|Q5VY37|Q9BX54	Missense_Mutation	SNP	ENST00000370598.1	37	c.2929C>T	CCDS4968.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.360001	0.82353	.	.	ENSG00000135298	ENST00000370598;ENST00000238918	T;T	0.50813	0.73;0.73	6.07	6.07	0.98685	GPCR, family 2-like (1);	0.000000	0.85682	D	0.000000	T	0.69333	0.3099	M	0.88181	2.935	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.97110	0.987;0.941;1.0	T	0.73672	-0.3909	10	0.66056	D	0.02	.	15.3849	0.74691	0.1393:0.8607:0.0:0.0	.	183;977;977	B7Z356;A8K0Y1;O60242	.;.;BAI3_HUMAN	W	977;183	ENSP00000359630:R977W;ENSP00000238918:R183W	ENSP00000238918:R183W	R	+	1	2	BAI3	70091599	0.967000	0.33354	1.000000	0.80357	0.993000	0.82548	2.285000	0.43487	2.885000	0.99019	0.655000	0.94253	CGG		0.408	BAI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041120.1			30	71	0	0	0	1	0	30	71					T	70034878	C	T	70034878	3	4	423	1	0	0	0	0	1	0	0	0	1300	527	19	1	3003	1	BAI3	6	70034878	Missense_Mutation	SNP	C	TCGA-X4-A8KQ-01A-12D-A364-08		70034878	101080189	22	20474											
MED23	9439	broad.mit.edu	37	chr6	131908954	131908954	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aatcgaagacgaagttttaaAgctggttttaagttacagat	15	13	9	4	2	0	2	0	0	0	2	1	4	0	2	0	1	2	4	0	1	7	5			TCGA-X4-A8KQ-01A-12D-A364-08	TCGA-X4-A8KQ-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04ded7a3-d7f2-43a0-9124-6e5a89a0013c	88958ce2-ad68-4691-967e-716477ec338a	g.chr6:131908954A>T	ENST00000368068.3	-	29	4151	c.3972T>A	c.(3970-3972)gcT>gcA	p.A1324A	MED23_ENST00000368060.3_Silent_p.A1324A|MED23_ENST00000403834.3_Silent_p.A1330A|MED23_ENST00000545957.1_Silent_p.A965A|MED23_ENST00000354577.4_Silent_p.A1330A|MED23_ENST00000479213.1_5'UTR|MED23_ENST00000368058.1_Silent_p.A1330A	NM_004830.3	NP_004821.2	Q9ULK4	MED23_HUMAN	mediator complex subunit 23	1324					gene expression (GO:0010467)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	transcription coactivator activity (GO:0003713)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(12)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	44	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0115)|OV - Ovarian serous cystadenocarcinoma(155;0.0608)		GAAGTTTTAAAGCTGGTTTTA	0.393																																						ENST00000403834.3																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(12)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	44						c.(3988-3990)gcT>gcA		mediator complex subunit 23							90	83	86					6																	131908954		2203	4300	6503	SO:0001819	synonymous_variant	9439				regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	transcription factor complex	protein binding|transcription coactivator activity	g.chr6:131908954A>T	AF104255	CCDS5146.1, CCDS5147.1, CCDS59039.1	6q22.33-q24.1	2008-02-05	2007-08-08	2007-07-30	ENSG00000112282	ENSG00000112282			2372	protein-coding gene	gene with protein product		605042	"cofactor required for Sp1 transcriptional activation, subunit 3, 130kDa"	CRSP3		9989412	Standard	NM_004830		Approved	CRSP130, DRIP130, Sur2	uc003qcs.2	Q9ULK4	OTTHUMG00000015565	ENST00000368068.3:c.3972T>A	6.37:g.131908954A>T						MED23_ENST00000545957.1_Silent_p.A965A|MED23_ENST00000368068.3_Silent_p.A1324A|MED23_ENST00000479213.1_5'UTR|MED23_ENST00000368060.3_Silent_p.A1324A|MED23_ENST00000368058.1_Silent_p.A1330A|MED23_ENST00000354577.4_Silent_p.A1330A	p.A1330A			Q9ULK4	MED23_HUMAN		GBM - Glioblastoma multiforme(226;0.0115)|OV - Ovarian serous cystadenocarcinoma(155;0.0608)	29	4163	-	Breast(56;0.0753)		1324					B9TX55|O95403|Q5JWT3|Q5JWT4|Q6P9H6|Q9H0J2|Q9NTT9|Q9NTU0|Q9Y5P7|Q9Y667	Silent	SNP	ENST00000368068.3	37	c.3990T>A	CCDS5147.1																																																																																				0.393	MED23-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000042215.1			5	10	0	0	0	1	0	5	10					T	131908954	A	T	131908954	2	4	423	1	0	0	0	0	0	0	0	1	9441	59	3	5		5	MED23	6	131908954	Silent	SNP	A	TCGA-X4-A8KQ-01A-12D-A364-08	61874076	131908954	39206113	23	20475											
ACTB	60	broad.mit.edu	37	chr7	5568185	5568185	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccggccagccaggtccagacGcaggatggcatgggggaggg	8	3	19	11	2	0	1	0	0	0	1	1	3	1	3	4	7	1	2	4	7	0	0			TCGA-X4-A8KQ-01A-12D-A364-08	TCGA-X4-A8KQ-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04ded7a3-d7f2-43a0-9124-6e5a89a0013c	88958ce2-ad68-4691-967e-716477ec338a	g.chr7:5568185G>A	ENST00000331789.5	-	4	720	c.529C>T	c.(529-531)Cgt>Tgt	p.R177C	ACTB_ENST00000464611.1_5'Flank|AC006483.1_ENST00000579427.1_RNA	NM_001101.3	NP_001092.1	P63261	ACTG_HUMAN	actin, beta	177					adherens junction organization (GO:0034332)|axon guidance (GO:0007411)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cellular component movement (GO:0006928)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane organization (GO:0061024)|platelet aggregation (GO:0070527)|retina homeostasis (GO:0001895)|sarcomere organization (GO:0045214)	blood microparticle (GO:0072562)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|membrane (GO:0016020)|myofibril (GO:0030016)|nucleus (GO:0005634)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|central_nervous_system(1)|large_intestine(2)|lung(2)|prostate(2)	8		Ovarian(82;0.0606)		UCEC - Uterine corpus endometrioid carcinoma (126;0.175)|OV - Ovarian serous cystadenocarcinoma(56;4.24e-37)		AGGTCCAGACGCAGGATGGCA	0.647																																						ENST00000331789.5																			0				NS(1)|central_nervous_system(1)|large_intestine(2)|lung(2)|prostate(2)	8						c.(529-531)Cgt>Tgt		actin, beta							56	57	57					7																	5568185		2203	4299	6502	SO:0001583	missense	60				'de novo' posttranslational protein folding|adherens junction organization|axon guidance|blood coagulation|cell junction assembly|cellular component movement	cytoskeleton|cytosol|MLL5-L complex|NuA4 histone acetyltransferase complex|ribonucleoprotein complex	ATP binding|kinesin binding|nitric-oxide synthase binding|structural constituent of cytoskeleton	g.chr7:5568185G>A	M28424	CCDS5341.1	7p22	2014-09-17			ENSG00000075624	ENSG00000075624			132	protein-coding gene	gene with protein product		102630				1505215	Standard	NM_001101		Approved		uc003sot.4	P60709	OTTHUMG00000023268	ENST00000331789.5:c.529C>T	7.37:g.5568185G>A	ENSP00000349960:p.Arg177Cys						p.R177C	NM_001101.3	NP_001092.1	P60709	ACTB_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.175)|OV - Ovarian serous cystadenocarcinoma(56;4.24e-37)	4	720	-		Ovarian(82;0.0606)	177					A8K7C2|P02571|P14104|P99022|Q5U032|Q96E67	Missense_Mutation	SNP	ENST00000331789.5	37	c.529C>T	CCDS5341.1	.	.	.	.	.	.	.	.	.	.	G	18.56	3.649803	0.67358	.	.	ENSG00000075624	ENST00000331789;ENST00000445914;ENST00000400179;ENST00000320713	D	0.95137	-3.62	5.37	5.37	0.77165	.	0.000000	0.64402	U	0.000018	D	0.98551	0.9516	H	0.99357	4.53	0.80722	D	1	D	0.71674	0.998	D	0.71656	0.974	D	0.99694	1.1002	10	0.87932	D	0	.	16.6558	0.85228	0.0:0.0:1.0:0.0	.	177	P60709	ACTB_HUMAN	C	177;153;149;96	ENSP00000349960:R177C	ENSP00000440549:R96C	R	-	1	0	ACTB	5534711	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.548000	0.82154	2.514000	0.84764	0.650000	0.86243	CGT		0.647	ACTB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059589.4	NM_001101		5	54	0	0	0	1	0	5	54					A	5568185	G	A	5568185	3	1	423	1	0	0	0	0	1	0	0	0	193	1087	38	1	610	1	ACTB	7	5568185	Missense_Mutation	SNP	G	TCGA-X4-A8KQ-01A-12D-A364-08		5568185	153570478	24	20476											
SAMD9	54809	broad.mit.edu	37	chr7	92732960	92732960	+	Frame_Shift_Del	DEL	A	A	-																															cgaatgtactttttagctatAgctgtttgaatagagtactg																										TCGA-X4-A8KQ-01A-12D-A364-08	TCGA-X4-A8KQ-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04ded7a3-d7f2-43a0-9124-6e5a89a0013c	88958ce2-ad68-4691-967e-716477ec338a	g.chr7:92732960delA	ENST00000379958.2	-	3	2720	c.2451delT	c.(2449-2451)gctfs	p.A817fs		NM_001193307.1|NM_017654.3	NP_001180236.1|NP_060124.2	Q5K651	SAMD9_HUMAN	sterile alpha motif domain containing 9	817						cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)				NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)			TTTTAGCTATAGCTGTTTGAA	0.368																																						ENST00000379958.2																			0				NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						c.(2449-2451)gcfs		sterile alpha motif domain containing 9							76	77	77					7																	92732960		2203	4298	6501	SO:0001589	frameshift_variant	54809					cytoplasm		g.chr7:92732960delA	AB095925	CCDS34680.1	7q21.2	2013-01-10	2004-07-15	2004-07-16	ENSG00000205413	ENSG00000205413		"Sterile alpha motif (SAM) domain containing"	1348	protein-coding gene	gene with protein product		610456	"chromosome 7 open reading frame 5"	C7orf5			Standard	NM_017654		Approved	KIAA2004, FLJ20073	uc003umg.3	Q5K651	OTTHUMG00000155809	ENST00000379958.2:c.2451delT	7.37:g.92732960delA	ENSP00000369292:p.Ala817fs						p.A817fs	NM_001193307.1|NM_017654.3	NP_001180236.1|NP_060124.2	Q5K651	SAMD9_HUMAN	STAD - Stomach adenocarcinoma(171;0.000302)		3	2720	-	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		817					A2RU68|Q5K649|Q6P080|Q75N21|Q8IVG6|Q9NXS8	Frame_Shift_Del	DEL	ENST00000379958.2	37	c.2451delT	CCDS34680.1																																																																																				0.368	SAMD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341761.1	NM_017654		26	82						26	82	---	---	---	---	-	92732960	A	-	92732960	7	5	423	1	0	1	0	1	0	0	0	0	13826	407	15	0	2322	0	SAMD9	7	92732960	Frame_Shift_Del	DEL	A	TCGA-X4-A8KQ-01A-12D-A364-08	87164775	92732960	66405703	25	20477											
TRIM56	81844	broad.mit.edu	37	chr7	100730969	100730969	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggtgcctggactgtgccgatGacttgtgccaggcctgtgcc	4	10	15	12	1	0	1	0	1	0	0	0	3	0	2	5	3	4	0	5	3	0	1			TCGA-X4-A8KQ-01A-12D-A364-08	TCGA-X4-A8KQ-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04ded7a3-d7f2-43a0-9124-6e5a89a0013c	88958ce2-ad68-4691-967e-716477ec338a	g.chr7:100730969G>C	ENST00000306085.6	+	3	673	c.376G>C	c.(376-378)Gac>Cac	p.D126H		NM_030961.1	NP_112223.1	Q9BRZ2	TRI56_HUMAN	tripartite motif containing 56	126					defense response to virus (GO:0051607)|innate immune response (GO:0045087)|interferon-beta production (GO:0032608)|negative regulation of viral entry into host cell (GO:0046597)|negative regulation of viral release from host cell (GO:1902187)|positive regulation of type I interferon production (GO:0032481)|protein K63-linked ubiquitination (GO:0070534)|regulation of type I interferon production (GO:0032479)|response to type I interferon (GO:0034340)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	Lung NSC(181;0.136)|all_lung(186;0.182)					CTGTGCCGATGACTTGTGCCA	0.716																																					Ovarian(89;1092 1379 22756 38989 39611)	ENST00000306085.6																			0				breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						c.(376-378)Gac>Cac		tripartite motif containing 56							12	15	14					7																	100730969		2018	4135	6153	SO:0001583	missense	81844				defense response to virus|interferon-beta production|protein K63-linked ubiquitination|response to type I interferon	cytoplasm	ubiquitin-protein ligase activity|zinc ion binding	g.chr7:100730969G>C	BK000511	CCDS43625.1	7q11.2	2013-01-09	2011-01-25		ENSG00000169871	ENSG00000169871		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	19028	protein-coding gene	gene with protein product			"tripartite motif-containing 56"				Standard	NM_030961		Approved	RNF109	uc003uxq.3	Q9BRZ2	OTTHUMG00000157032	ENST00000306085.6:c.376G>C	7.37:g.100730969G>C	ENSP00000305161:p.Asp126His						p.D126H	NM_030961.1	NP_112223.1	Q9BRZ2	TRI56_HUMAN			3	673	+	Lung NSC(181;0.136)|all_lung(186;0.182)		126					Q6PJS5|Q86VT6|Q8N2H8|Q8NAC0|Q9H031	Missense_Mutation	SNP	ENST00000306085.6	37	c.376G>C	CCDS43625.1	.	.	.	.	.	.	.	.	.	.	G	4.821	0.152717	0.09185	.	.	ENSG00000169871	ENST00000306085;ENST00000412507	T;T	0.42131	0.98;1.33	3.8	2.92	0.33932	.	0.141437	0.32901	N	0.005520	T	0.26376	0.0644	N	0.14661	0.345	0.20403	N	0.999901	P;P	0.45902	0.868;0.838	B;P	0.47206	0.399;0.541	T	0.08472	-1.0720	10	0.15066	T	0.55	.	7.1529	0.25620	0.1216:0.0:0.8784:0.0	.	126;126	C9JI91;Q9BRZ2	.;TRI56_HUMAN	H	126	ENSP00000305161:D126H;ENSP00000404186:D126H	ENSP00000305161:D126H	D	+	1	0	TRIM56	100517689	0.003000	0.15002	0.763000	0.31416	0.386000	0.30323	0.385000	0.20685	1.168000	0.42723	0.655000	0.94253	GAC		0.716	TRIM56-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347185.1	NM_030961		7	24	0	0	0	1	0	7	24					C	100730969	G	C	100730969	3	2	423	1	0	0	0	0	1	0	0	0	16527	1290	45	5	378	5	TRIM56	7	100730969	Missense_Mutation	SNP	G	TCGA-X4-A8KQ-01A-12D-A364-08	7998009	100730969	58407694	26	20478											
CAV1	857	broad.mit.edu	37	chr7	116198999	116198999	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtgtcacttcttccttttaGattgactttgaagatgtgat	8	19	8	6	0	2	5	1	3	1	2	3	5	3	5	1	0	0	0	1	0	2	6			TCGA-X4-A8KQ-01A-12D-A364-08	TCGA-X4-A8KQ-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04ded7a3-d7f2-43a0-9124-6e5a89a0013c	88958ce2-ad68-4691-967e-716477ec338a	g.chr7:116198999G>T	ENST00000341049.2	+	3	473		c.e3-1		CAV1_ENST00000405348.1_Splice_Site|CAV1_ENST00000393468.1_Splice_Site|CAV1_ENST00000393467.1_Splice_Site|CAV1_ENST00000393470.1_Splice_Site	NM_001753.4	NP_001744.2	Q03135	CAV1_HUMAN	caveolin 1, caveolae protein, 22kDa						angiogenesis (GO:0001525)|apoptotic signaling pathway (GO:0097190)|blood coagulation (GO:0007596)|calcium ion homeostasis (GO:0055074)|calcium ion transport (GO:0006816)|caveola assembly (GO:0070836)|caveolin-mediated endocytosis (GO:0072584)|cellular calcium ion homeostasis (GO:0006874)|cellular response to hyperoxia (GO:0071455)|cellular response to starvation (GO:0009267)|cholesterol homeostasis (GO:0042632)|cholesterol transport (GO:0030301)|cytosolic calcium ion homeostasis (GO:0051480)|inactivation of MAPK activity (GO:0000188)|lactation (GO:0007595)|leukocyte migration (GO:0050900)|lipid storage (GO:0019915)|maintenance of protein location in cell (GO:0032507)|mammary gland development (GO:0030879)|mammary gland involution (GO:0060056)|MAPK cascade (GO:0000165)|membrane depolarization (GO:0051899)|negative regulation of anoikis (GO:2000811)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of epithelial cell differentiation (GO:0030857)|negative regulation of JAK-STAT cascade (GO:0046426)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of nitric oxide biosynthetic process (GO:0045019)|negative regulation of nitric-oxide synthase activity (GO:0051001)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|negative regulation of pinocytosis (GO:0048550)|negative regulation of protein binding (GO:0032091)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of tyrosine phosphorylation of Stat5 protein (GO:0042524)|nitric oxide homeostasis (GO:0033484)|nitric oxide metabolic process (GO:0046209)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of metalloenzyme activity (GO:0048554)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of vasoconstriction (GO:0045907)|protein homooligomerization (GO:0051260)|protein localization (GO:0008104)|receptor internalization involved in canonical Wnt signaling pathway (GO:2000286)|regulation of blood coagulation (GO:0030193)|regulation of fatty acid metabolic process (GO:0019217)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of peptidase activity (GO:0052547)|regulation of smooth muscle contraction (GO:0006940)|regulation of the force of heart contraction by chemical signal (GO:0003057)|response to calcium ion (GO:0051592)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|response to ischemia (GO:0002931)|response to progesterone (GO:0032570)|skeletal muscle tissue development (GO:0007519)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|triglyceride metabolic process (GO:0006641)|vasculogenesis (GO:0001570)|vasoconstriction (GO:0042310)|vesicle organization (GO:0016050)|viral process (GO:0016032)	acrosomal membrane (GO:0002080)|apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|caveola (GO:0005901)|cell cortex (GO:0005938)|cilium (GO:0005929)|cytoplasmic vesicle (GO:0031410)|endocytic vesicle membrane (GO:0030666)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|focal adhesion (GO:0005925)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|lipid particle (GO:0005811)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	cholesterol binding (GO:0015485)|enzyme binding (GO:0019899)|nitric-oxide synthase binding (GO:0050998)|patched binding (GO:0005113)|peptidase activator activity (GO:0016504)|protein complex scaffold (GO:0032947)|receptor binding (GO:0005102)|structural molecule activity (GO:0005198)			endometrium(1)|large_intestine(1)|lung(1)|urinary_tract(1)	4	all_epithelial(6;1.42e-06)|Lung NSC(10;0.0056)|all_lung(10;0.00609)		STAD - Stomach adenocarcinoma(10;0.00878)			CTTCCTTTTAGATTGACTTTG	0.393																																						ENST00000341049.2																			0				endometrium(1)|large_intestine(1)|lung(1)|urinary_tract(1)	4						c.e3-1		caveolin 1, caveolae protein, 22kDa							61	52	55					7																	116198999		2203	4300	6503	SO:0001630	splice_region_variant	857				blood coagulation|calcium ion transport|caveola assembly|cellular response to starvation|cholesterol homeostasis|cytosolic calcium ion homeostasis|inactivation of MAPK activity|interspecies interaction between organisms|leukocyte migration|lipid storage|maintenance of protein location in cell|mammary gland involution|membrane depolarization|negative regulation of BMP signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of endothelial cell proliferation|negative regulation of epithelial cell differentiation|negative regulation of nitric oxide biosynthetic process|negative regulation of peptidyl-serine phosphorylation|negative regulation of protein binding|negative regulation of transcription from RNA polymerase II promoter|nitric oxide homeostasis|nitric oxide metabolic process|positive regulation of calcium ion transport into cytosol|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of metalloenzyme activity|positive regulation of peptidyl-serine phosphorylation|positive regulation of vasoconstriction|protein homooligomerization|receptor internalization|regulation of blood coagulation|regulation of fatty acid metabolic process|regulation of nitric-oxide synthase activity|regulation of smooth muscle contraction|response to calcium ion|response to estrogen stimulus|response to hypoxia|response to progesterone stimulus|skeletal muscle tissue development|T cell costimulation|triglyceride metabolic process|vasculogenesis|vesicle organization	apical plasma membrane|basolateral plasma membrane|caveola|cytosol|endoplasmic reticulum|endosome|Golgi membrane|lipid particle|perinuclear region of cytoplasm	cholesterol binding|nitric-oxide synthase binding|peptidase activator activity|protein binding|protein complex scaffold|receptor binding	g.chr7:116198999G>T	AF125348	CCDS5767.1, CCDS55156.1	7q31	2006-02-09	2002-08-29		ENSG00000105974	ENSG00000105974			1527	protein-coding gene	gene with protein product		601047	"caveolin 1, caveolae protein, 22kD"	CAV		10087206	Standard	NM_001753		Approved		uc003vif.2	Q03135	OTTHUMG00000023413	ENST00000341049.2:c.196-1G>T	7.37:g.116198999G>T						CAV1_ENST00000393467.1_Splice_Site|CAV1_ENST00000393468.1_Splice_Site|CAV1_ENST00000405348.1_Splice_Site|CAV1_ENST00000393470.1_Splice_Site		NM_001753.4	NP_001744.2	Q03135	CAV1_HUMAN	STAD - Stomach adenocarcinoma(10;0.00878)		3	473	+	all_epithelial(6;1.42e-06)|Lung NSC(10;0.0056)|all_lung(10;0.00609)							Q9UGP1|Q9UNG1|Q9UQH6	Splice_Site	SNP	ENST00000341049.2	37		CCDS5767.1	.	.	.	.	.	.	.	.	.	.	G	19.31	3.802742	0.70682	.	.	ENSG00000105974	ENST00000341049;ENST00000393470;ENST00000405348;ENST00000456473;ENST00000393468;ENST00000393467	.	.	.	5.7	5.7	0.88788	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.8309	0.96634	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CAV1	115986235	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	9.476000	0.97823	2.684000	0.91462	0.650000	0.86243	.		0.393	CAV1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000059734.4	NM_001753	Intron	11	27	1	0	0.000673444	1	0.000694165	11	27					T	116198999	G	T	116198999	5	4	423	1	0	0	0	0	0	0	1	0	2693	956	33	5	205	5	CAV1	7	116198999	Splice_Site	SNP	G	TCGA-X4-A8KQ-01A-12D-A364-08	15468030	116198999	42939664	27	20479											
PENK	5179	broad.mit.edu	37	chr8	57354325	57354325	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagcctccataccttttcaTgaagcccccataccttttgg	9	12	6	14	0	1	1	1	1	0	0	2	2	2	1	6	1	4	0	6	1	4	6			TCGA-X4-A8KQ-01A-12D-A364-08	TCGA-X4-A8KQ-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04ded7a3-d7f2-43a0-9124-6e5a89a0013c	88958ce2-ad68-4691-967e-716477ec338a	g.chr8:57354325T>C	ENST00000314922.3	-	2	386	c.310A>G	c.(310-312)Atg>Gtg	p.M104V	PENK_ENST00000451791.2_Missense_Mutation_p.M104V|PENK_ENST00000523274.1_5'UTR	NM_006211.3	NP_006202.1	P01210	PENK_HUMAN	proenkephalin	104					aggressive behavior (GO:0002118)|behavioral fear response (GO:0001662)|locomotory behavior (GO:0007626)|neuropeptide signaling pathway (GO:0007218)|sensory perception of pain (GO:0019233)|signal transduction (GO:0007165)|startle response (GO:0001964)	extracellular region (GO:0005576)	neuropeptide hormone activity (GO:0005184)			central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(1)|lung(5)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	21		all_lung(136;0.229)	Epithelial(17;0.000873)|all cancers(17;0.0069)			TACCTTTTCATGAAGCCCCCA	0.493																																						ENST00000314922.3																			0				central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(1)|lung(5)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	21						c.(310-312)Atg>Gtg		proenkephalin							111	104	106					8																	57354325		2203	4300	6503	SO:0001583	missense	5179				neuropeptide signaling pathway	extracellular region	neuropeptide hormone activity|opioid peptide activity	g.chr8:57354325T>C		CCDS6168.1	8q23-q24	2013-02-26				ENSG00000181195		"Endogenous ligands"	8831	protein-coding gene	gene with protein product	"preproenkephalin"	131330				6281660	Standard	NM_006211		Approved		uc003xsz.2	P01210		ENST00000314922.3:c.310A>G	8.37:g.57354325T>C	ENSP00000324248:p.Met104Val					PENK_ENST00000451791.2_Missense_Mutation_p.M104V|PENK_ENST00000523274.1_5'UTR	p.M104V	NM_006211.3	NP_006202.1	P01210	PENK_HUMAN	Epithelial(17;0.000873)|all cancers(17;0.0069)		2	386	-		all_lung(136;0.229)	104					B2RC23|Q6FHC6|Q6FHE6	Missense_Mutation	SNP	ENST00000314922.3	37	c.310A>G	CCDS6168.1	.	.	.	.	.	.	.	.	.	.	T	17.00	3.277877	0.59758	.	.	ENSG00000181195	ENST00000539312;ENST00000314922;ENST00000451791;ENST00000518974	T;T;T	0.53423	1.83;1.83;0.62	5.98	5.98	0.97165	.	0.000000	0.85682	D	0.000000	T	0.55593	0.1930	L	0.27053	0.805	0.80722	D	1	D	0.76494	0.999	D	0.79784	0.993	T	0.52480	-0.8570	10	0.30078	T	0.28	-27.8458	15.6434	0.77025	0.0:0.0:0.0:1.0	.	104	P01210	PENK_HUMAN	V	104	ENSP00000324248:M104V;ENSP00000400894:M104V;ENSP00000428012:M104V	ENSP00000324248:M104V	M	-	1	0	PENK	57516879	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.166000	0.77553	2.289000	0.77006	0.533000	0.62120	ATG		0.493	PENK-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378645.1			4	121	0	0	0	1	0	4	121					C	57354325	T	C	57354325	3	2	423	1	0	0	0	0	1	0	0	0	11727	1464	51	4	497	4	PENK	8	57354325	Missense_Mutation	SNP	T	TCGA-X4-A8KQ-01A-12D-A364-08		57354325	89009697	28	20480											
IFNA17	3451	broad.mit.edu	37	chr9	21228048	21228048	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagagattcttcccatttgtGccaggagtatcaaggccctc	9	11	10	11	0	2	1	1	0	1	1	4	4	3	2	3	2	1	1	3	2	2	4	rs141448576		TCGA-X4-A8KQ-01A-12D-A364-08	TCGA-X4-A8KQ-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04ded7a3-d7f2-43a0-9124-6e5a89a0013c	88958ce2-ad68-4691-967e-716477ec338a	g.chr9:21228048G>C	ENST00000413767.2	-	1	173	c.125C>G	c.(124-126)gCa>gGa	p.A42G		NM_021268.2	NP_067091.1	P01571	IFN17_HUMAN	interferon, alpha 17	42					adaptive immune response (GO:0002250)|B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|natural killer cell activation involved in immune response (GO:0002323)|positive regulation of peptidyl-serine phosphorylation of STAT protein (GO:0033141)|regulation of MHC class I biosynthetic process (GO:0045343)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to exogenous dsRNA (GO:0043330)|response to virus (GO:0009615)|T cell activation involved in immune response (GO:0002286)|type I interferon signaling pathway (GO:0060337)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	cytokine activity (GO:0005125)|type I interferon receptor binding (GO:0005132)			breast(1)|endometrium(2)|lung(4)|ovary(1)|skin(1)	9				Lung(24;2.13e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.116)		TCCCATTTGTGCCAGGAGTAT	0.517													g|||	1	0.000199681	0	0.0014	5008	,	,		20120	0		0	False		,,,				2504	0					ENST00000413767.2																			0				breast(1)|endometrium(2)|lung(4)|ovary(1)|skin(1)	9						c.(124-126)gCa>gGa		interferon, alpha 17		G	GLY/ALA	0,4406		0,0,2203	77	80	79		125	-1.9	0	9	dbSNP_134	79	2,8592	2.2+/-6.3	0,2,4295	no	missense	IFNA17	NM_021268.2	60	0,2,6498	CC,CG,GG		0.0233,0.0,0.0154	benign	42/190	21228048	2,12998	2203	4297	6500	SO:0001583	missense	3451				blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|interferon-alpha/beta receptor binding	g.chr9:21228048G>C		CCDS6500.1	9p22	2010-12-10			ENSG00000234829	ENSG00000234829		"Interferons"	5422	protein-coding gene	gene with protein product		147583				1385305	Standard	NM_021268		Approved	LEIF2C1, IFN-alphaI	uc003zos.1	P01571	OTTHUMG00000019667	ENST00000413767.2:c.125C>G	9.37:g.21228048G>C	ENSP00000411940:p.Ala42Gly						p.A42G	NM_021268.2	NP_067091.1	P01571	IFN17_HUMAN		Lung(24;2.13e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.116)	1	173	-			42					Q14639|Q4KMT4|Q5VZ53|Q7M4Q4	Missense_Mutation	SNP	ENST00000413767.2	37	c.125C>G	CCDS6500.1	.	.	.	.	.	.	.	.	.	.	g	1.101	-0.661101	0.03454	0.0	2.33E-4	ENSG00000234829	ENST00000413767	T	0.05139	3.49	2.87	-1.92	0.07618	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	0.761996	0.12212	N	0.489217	T	0.02494	0.0076	N	0.11560	0.145	0.09310	N	1	B	0.02656	0.0	B	0.08055	0.003	T	0.47661	-0.9100	10	0.11794	T	0.64	.	4.6395	0.12541	0.0:0.2509:0.4725:0.2766	.	42	P01571	IFN17_HUMAN	G	42	ENSP00000411940:A42G	ENSP00000411940:A42G	A	-	2	0	IFNA17	21218048	0.000000	0.05858	0.003000	0.11579	0.497000	0.33675	-1.503000	0.02277	-0.309000	0.08779	0.423000	0.28283	GCA		0.517	IFNA17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051896.1	NM_021268		19	105	0	0	0	1	0	19	105					C	21228048	G	C	21228048	3	2	423	1	0	0	0	0	1	0	0	0	7536	1319	46	5	448	5	IFNA17	9	21228048	Missense_Mutation	SNP	G	TCGA-X4-A8KQ-01A-12D-A364-08		21228048	119985383	29	20481											
DBH	1621	broad.mit.edu	37	chr9	136507474	136507474	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accggagttgccctcagacgCgtgcaccatggaggtccaag	9	6	13	13	3	1	1	1	0	0	1	2	3	2	3	4	3	2	2	4	3	1	1	rs143535251	byFrequency	TCGA-X4-A8KQ-01A-12D-A364-08	TCGA-X4-A8KQ-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04ded7a3-d7f2-43a0-9124-6e5a89a0013c	88958ce2-ad68-4691-967e-716477ec338a	g.chr9:136507474C>T	ENST00000393056.2	+	3	644	c.632C>T	c.(631-633)gCg>gTg	p.A211V		NM_000787.3	NP_000778.3	P09172	DOPO_HUMAN	dopamine beta-hydroxylase (dopamine beta-monooxygenase)	211			A -> T (in dbSNP:rs5320). {ECO:0000269|PubMed:10391210, ECO:0000269|PubMed:3443096}.		behavioral response to ethanol (GO:0048149)|blood vessel remodeling (GO:0001974)|catecholamine biosynthetic process (GO:0042423)|cellular nitrogen compound metabolic process (GO:0034641)|cytokine production (GO:0001816)|dopamine catabolic process (GO:0042420)|fear response (GO:0042596)|glucose homeostasis (GO:0042593)|homoiothermy (GO:0042309)|leukocyte mediated immunity (GO:0002443)|leukocyte migration (GO:0050900)|locomotory behavior (GO:0007626)|maternal behavior (GO:0042711)|memory (GO:0007613)|norepinephrine biosynthetic process (GO:0042421)|positive regulation of vasoconstriction (GO:0045907)|regulation of cell proliferation (GO:0042127)|regulation of extrinsic apoptotic signaling pathway (GO:2001236)|response to amphetamine (GO:0001975)|response to pain (GO:0048265)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|secretory granule lumen (GO:0034774)	catalytic activity (GO:0003824)|copper ion binding (GO:0005507)|dopamine beta-monooxygenase activity (GO:0004500)|L-ascorbic acid binding (GO:0031418)			central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(9)|liver(1)|lung(6)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	36				OV - Ovarian serous cystadenocarcinoma(145;2.33e-07)|Epithelial(140;1.5e-06)|all cancers(34;1.66e-05)	Disulfiram(DB00822)|Dopamine(DB00988)|Propylthiouracil(DB00550)|Vitamin C(DB00126)	CCCTCAGACGCGTGCACCATG	0.607																																						ENST00000393056.2																			0				central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(9)|liver(1)|lung(6)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	36						c.(631-633)gCg>gTg		dopamine beta-hydroxylase (dopamine beta-monooxygenase)	Dopamine(DB00988)|Vitamin C(DB00126)	C	VAL/ALA	1,4405		0,1,2202	69	63	65		632	-7.7	0	9	dbSNP_134	65	8,8592	6.4+/-24.3	0,8,4292	yes	missense	DBH	NM_000787.3	64	0,9,6494	TT,TC,CC		0.093,0.0227,0.0692	benign	211/618	136507474	9,12997	2203	4300	6503	SO:0001583	missense	1621				hormone biosynthetic process	chromaffin granule lumen|chromaffin granule membrane|extracellular region|integral to membrane|membrane fraction|soluble fraction|transport vesicle membrane	dopamine beta-monooxygenase activity|L-ascorbic acid binding	g.chr9:136507474C>T	X13256	CCDS6977.2	9q34	2013-06-03			ENSG00000123454	ENSG00000123454	1.14.17.1		2689	protein-coding gene	gene with protein product		609312					Standard	NM_000787		Approved	DBM	uc004cel.3	P09172	OTTHUMG00000020878	ENST00000393056.2:c.632C>T	9.37:g.136507474C>T	ENSP00000376776:p.Ala211Val						p.A211V	NM_000787.3	NP_000778.3	P09172	DOPO_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;2.33e-07)|Epithelial(140;1.5e-06)|all cancers(34;1.66e-05)	3	644	+			211		A -> T (in dbSNP:rs5320).			Q5T381|Q96AG2	Missense_Mutation	SNP	ENST00000393056.2	37	c.632C>T	CCDS6977.2	.	.	.	.	.	.	.	.	.	.	C	0.014	-1.572667	0.00887	2.27E-4	9.3E-4	ENSG00000123454	ENST00000393056;ENST00000371880;ENST00000263611	T;T	0.32272	1.46;1.46	4.67	-7.71	0.01254	Copper type II, ascorbate-dependent monooxygenase, N-terminal (1);PHM/PNGase F domain (1);	1.057760	0.07311	N	0.875897	T	0.08802	0.0218	N	0.02539	-0.55	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.41052	-0.9530	10	0.02654	T	1	-12.7818	10.5118	0.44866	0.0:0.1012:0.0987:0.8001	.	211	P09172	DOPO_HUMAN	V	211;148;148	ENSP00000376776:A211V;ENSP00000263611:A148V	ENSP00000263611:A148V	A	+	2	0	DBH	135497295	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.561000	0.23515	-1.668000	0.01471	-0.339000	0.08088	GCG		0.607	DBH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054929.2	NM_000787		8	28	0	0	0	1	0	8	28					T	136507474	C	T	136507474	3	4	423	1	0	0	0	0	1	0	0	0	4250	768	27	1	642	1	DBH	9	136507474	Missense_Mutation	SNP	C	TCGA-X4-A8KQ-01A-12D-A364-08	115279426	136507474	4705957	30	20482											
SPRYD5	84767	broad.mit.edu	37	chr11	55653269	55653269	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctccaactctcaggagcaccGgaatcacatacactgtccca	12	7	6	16	1	2	0	2	0	1	0	5	2	4	2	3	2	3	1	3	2	3	1			TCGA-X4-A8KQ-01A-12D-A364-08	TCGA-X4-A8KQ-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04ded7a3-d7f2-43a0-9124-6e5a89a0013c	88958ce2-ad68-4691-967e-716477ec338a	g.chr11:55653269G>A	ENST00000449290.2	+	2	457	c.365G>A	c.(364-366)cGg>cAg	p.R122Q	TRIM51_ENST00000244891.3_5'Flank	NM_032681.3	NP_116070.2	Q9BSJ1	TRI51_HUMAN	tripartite motif-containing 51	122						intracellular (GO:0005622)	zinc ion binding (GO:0008270)										CAGGAGCACCGGAATCACATA	0.483																																						ENST00000449290.2																			0											c.(364-366)cGg>cAg		tripartite motif-containing 51							18	17	17					11																	55653269		692	1591	2283	SO:0001583	missense	84767					intracellular	zinc ion binding	g.chr11:55653269G>A	BC005014		11p11	2013-01-09	2012-05-18	2012-05-18	ENSG00000124900	ENSG00000124900		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	19023	protein-coding gene	gene with protein product			"SPRY domain containing 5"	SPRYD5			Standard	NM_032681		Approved	TRIM51A	uc010rip.2	Q9BSJ1	OTTHUMG00000156437	ENST00000449290.2:c.365G>A	11.37:g.55653269G>A	ENSP00000395086:p.Arg122Gln						p.R122Q	NM_032681.3	NP_116070.2	Q9BSJ1	SPRY5_HUMAN			2	457	+			122					A6NMG2	Missense_Mutation	SNP	ENST00000449290.2	37	c.365G>A		.	.	.	.	.	.	.	.	.	.	.	7.175	0.588382	0.13812	.	.	ENSG00000124900	ENST00000449290	T	0.45668	0.89	0.803	0.803	0.18691	Zinc finger, B-box (3);	.	.	.	.	T	0.30947	0.0781	L	0.51422	1.61	0.09310	N	0.999999	B	0.31655	0.334	B	0.25291	0.059	T	0.14420	-1.0473	9	0.27785	T	0.31	.	7.5005	0.27516	1.0E-4:0.0:0.9999:0.0	.	122	Q9BSJ1	SPRY5_HUMAN	Q	122	ENSP00000395086:R122Q	ENSP00000395086:R122Q	R	+	2	0	SPRYD5	55409845	0.002000	0.14202	0.178000	0.23040	0.028000	0.11728	0.325000	0.19628	0.752000	0.32923	0.152000	0.16155	CGG		0.483	TRIM51-004	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000391522.1	NM_032681		15	41	0	0	0	1	0	15	41					A	55653269	G	A	55653269	3	1	423	1	0	0	0	0	1	0	0	0	15110	1116	39	2	367	2	SPRYD5	11	55653269	Missense_Mutation	SNP	G	TCGA-X4-A8KQ-01A-12D-A364-08		55653269	79353247	31	20483											
OR9I1	219954	broad.mit.edu	37	chr11	57886182	57886182	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aagaaaagggccacagcagtGatgtgagaggcacatgtgga	15	5	15	6	0	0	3	0	2	0	2	0	5	0	4	1	3	1	2	1	3	3	0			TCGA-X4-A8KQ-01A-12D-A364-08	TCGA-X4-A8KQ-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04ded7a3-d7f2-43a0-9124-6e5a89a0013c	88958ce2-ad68-4691-967e-716477ec338a	g.chr11:57886182G>C	ENST00000302610.1	-	1	734	c.735C>G	c.(733-735)atC>atG	p.I245M	OR9Q1_ENST00000335397.3_Intron	NM_001005211.1	NP_001005211.1	Q8NGQ6	OR9I1_HUMAN	olfactory receptor, family 9, subfamily I, member 1	245						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|large_intestine(2)|liver(1)|lung(15)|pancreas(1)|skin(1)|urinary_tract(1)	23		Breast(21;0.0589)				CCACAGCAGTGATGTGAGAGG	0.468																																						ENST00000302610.1																			0				endometrium(2)|large_intestine(2)|liver(1)|lung(15)|pancreas(1)|skin(1)|urinary_tract(1)	23						c.(733-735)atC>atG		olfactory receptor, family 9, subfamily I, member 1							107	92	97					11																	57886182		2201	4296	6497	SO:0001583	missense	219954				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:57886182G>C	AB065733	CCDS31542.1	11q12.1	2012-08-09			ENSG00000172377	ENSG00000172377		"GPCR / Class A : Olfactory receptors"	14718	protein-coding gene	gene with protein product							Standard	NM_001005211		Approved		uc021qjl.1	Q8NGQ6	OTTHUMG00000167404	ENST00000302610.1:c.735C>G	11.37:g.57886182G>C	ENSP00000302606:p.Ile245Met					OR9Q1_ENST00000335397.3_Intron	p.I245M	NM_001005211.1	NP_001005211.1	Q8NGQ6	OR9I1_HUMAN			1	734	-		Breast(21;0.0589)	245					Q6IFH0|Q96RA8	Missense_Mutation	SNP	ENST00000302610.1	37	c.735C>G	CCDS31542.1	.	.	.	.	.	.	.	.	.	.	G	8.076	0.771400	0.16051	.	.	ENSG00000172377	ENST00000302610	T	0.40476	1.03	4.87	3.94	0.45596	GPCR, rhodopsin-like superfamily (1);	0.173117	0.27710	N	0.018165	T	0.35364	0.0929	N	0.17674	0.51	0.29002	N	0.887425	P	0.44690	0.841	P	0.47470	0.548	T	0.20140	-1.0284	10	0.41790	T	0.15	-30.9627	12.9385	0.58329	0.0:0.4362:0.5638:0.0	.	245	Q8NGQ6	OR9I1_HUMAN	M	245	ENSP00000302606:I245M	ENSP00000302606:I245M	I	-	3	3	OR9I1	57642758	0.688000	0.27680	1.000000	0.80357	0.706000	0.40770	0.583000	0.23849	1.400000	0.46741	0.467000	0.42956	ATC		0.468	OR9I1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394539.1	NM_001005211		4	48	0	0	0	1	0	4	48					C	57886182	G	C	57886182	3	2	423	1	0	0	0	0	1	0	0	0	11253	1280	45	5	213	5	OR9I1	11	57886182	Missense_Mutation	SNP	G	TCGA-X4-A8KQ-01A-12D-A364-08	2232913	57886182	77120334	32	20484											
OR10Q1	219960	broad.mit.edu	37	chr11	57995989	57995989	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcggtcataggccatgatcGccaagaggaaacagtccgtg	12	6	13	10	3	1	2	1	1	0	1	3	3	2	3	3	3	2	0	3	3	3	1			TCGA-X4-A8KQ-01A-12D-A364-08	TCGA-X4-A8KQ-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04ded7a3-d7f2-43a0-9124-6e5a89a0013c	88958ce2-ad68-4691-967e-716477ec338a	g.chr11:57995989G>A	ENST00000316770.2	-	1	401	c.359C>T	c.(358-360)gCg>gTg	p.A120V		NM_001004471.2	NP_001004471.1	Q8NGQ4	O10Q1_HUMAN	olfactory receptor, family 10, subfamily Q, member 1	120						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)	35		Breast(21;0.0589)				GGCCATGATCGCCAAGAGGAA	0.587																																						ENST00000316770.2																			0				autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)	35						c.(358-360)gCg>gTg		olfactory receptor, family 10, subfamily Q, member 1							91	76	81					11																	57995989		2201	4295	6496	SO:0001583	missense	219960				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:57995989G>A	AB065735	CCDS31547.1	11q12.1	2012-08-09			ENSG00000180475	ENSG00000180475		"GPCR / Class A : Olfactory receptors"	15134	protein-coding gene	gene with protein product							Standard	NM_001004471		Approved		uc010rkd.2	Q8NGQ4	OTTHUMG00000167542	ENST00000316770.2:c.359C>T	11.37:g.57995989G>A	ENSP00000314324:p.Ala120Val						p.A120V	NM_001004471.2	NP_001004471.1	Q8NGQ4	O10Q1_HUMAN			1	401	-		Breast(21;0.0589)	120					Q6IFG4	Missense_Mutation	SNP	ENST00000316770.2	37	c.359C>T	CCDS31547.1	.	.	.	.	.	.	.	.	.	.	G	15.68	2.904768	0.52333	.	.	ENSG00000180475	ENST00000316770	T	0.01379	4.96	4.45	4.45	0.53987	GPCR, rhodopsin-like superfamily (1);	0.000000	0.42420	D	0.000717	T	0.03915	0.0110	L	0.56199	1.76	0.30536	N	0.76698	D	0.61080	0.989	P	0.50825	0.651	T	0.02639	-1.1130	10	0.72032	D	0.01	.	16.2561	0.82517	0.0:0.0:1.0:0.0	.	120	Q8NGQ4	O10Q1_HUMAN	V	120	ENSP00000314324:A120V	ENSP00000314324:A120V	A	-	2	0	OR10Q1	57752565	0.913000	0.31002	0.789000	0.31954	0.004000	0.04260	3.185000	0.50934	2.298000	0.77334	0.557000	0.71058	GCG		0.587	OR10Q1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394706.1	NM_001004471		7	19	0	0	0	1	0	7	19					A	57995989	G	A	57995989	3	1	423	1	0	0	0	0	1	0	0	0	10916	1087	38	1	604	1	OR10Q1	11	57995989	Missense_Mutation	SNP	G	TCGA-X4-A8KQ-01A-12D-A364-08	109807	57995989	77010527	33	20485											
ROBO4	54538	broad.mit.edu	37	chr11	124765421	124765421	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccggccagaggatggtctcActttgaactcgtagtcttgg	7	11	12	11	2	2	2	1	1	2	1	4	3	2	3	2	4	1	1	2	4	2	3			TCGA-X4-A8KQ-01A-12D-A364-08	TCGA-X4-A8KQ-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04ded7a3-d7f2-43a0-9124-6e5a89a0013c	88958ce2-ad68-4691-967e-716477ec338a	g.chr11:124765421A>G	ENST00000306534.3	-	6	1453	c.968T>C	c.(967-969)gTg>gCg	p.V323A	ROBO4_ENST00000533054.1_Missense_Mutation_p.V178A|ROBO4_ENST00000526899.1_5'Flank	NM_019055.5	NP_061928.4	Q8WZ75	ROBO4_HUMAN	roundabout, axon guidance receptor, homolog 4 (Drosophila)	323	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|negative regulation of cell migration (GO:0030336)|regulation of cell migration (GO:0030334)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			NS(2)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(42)|ovary(1)|prostate(4)|skin(5)|urinary_tract(3)	76	all_hematologic(175;0.215)	Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0301)		GGATGGTCTCACTTTGAACTC	0.642																																						ENST00000306534.3																			0				NS(2)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(42)|ovary(1)|prostate(4)|skin(5)|urinary_tract(3)	76						c.(967-969)gTg>gCg		roundabout, axon guidance receptor, homolog 4 (Drosophila)							48	55	53					11																	124765421		2200	4298	6498	SO:0001583	missense	54538				angiogenesis|cell differentiation	integral to membrane	receptor activity	g.chr11:124765421A>G	AF361473	CCDS8455.1, CCDS73409.1	11q24.2	2013-02-11	2011-12-09		ENSG00000154133	ENSG00000154133		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	17985	protein-coding gene	gene with protein product	"magic roundabout"	607528	"roundabout homolog 4 (Drosophila)"			11076864	Standard	NM_019055		Approved	FLJ20798, MRB, ECSM4	uc001qbg.3	Q8WZ75	OTTHUMG00000165936	ENST00000306534.3:c.968T>C	11.37:g.124765421A>G	ENSP00000304945:p.Val323Ala					ROBO4_ENST00000533054.1_Missense_Mutation_p.V178A	p.V323A	NM_019055.5	NP_061928.4	Q8WZ75	ROBO4_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0301)	6	1453	-	all_hematologic(175;0.215)	Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224)	323			Fibronectin type-III 1.		A8K154|Q14DU7|Q8TEG1|Q96JV6|Q9H718|Q9NWJ8	Missense_Mutation	SNP	ENST00000306534.3	37	c.968T>C	CCDS8455.1	.	.	.	.	.	.	.	.	.	.	A	23.6	4.438131	0.83885	.	.	ENSG00000154133	ENST00000306534;ENST00000374963;ENST00000533054	T;T	0.68765	-0.35;-0.35	4.72	4.72	0.59763	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.000000	0.35495	N	0.003176	T	0.79522	0.4460	M	0.71581	2.175	0.44104	D	0.996878	D;D	0.67145	0.996;0.969	D;D	0.76071	0.987;0.93	T	0.82012	-0.0668	10	0.87932	D	0	.	12.6117	0.56554	1.0:0.0:0.0:0.0	.	213;323	Q8WZ75-3;Q8WZ75	.;ROBO4_HUMAN	A	323;213;178	ENSP00000304945:V323A;ENSP00000437129:V178A	ENSP00000304945:V323A	V	-	2	0	ROBO4	124270631	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.460000	0.73518	1.991000	0.58162	0.459000	0.35465	GTG		0.642	ROBO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387111.1	NM_019055		19	63	0	0	0	1	0	19	63					G	124765421	A	G	124765421	3	3	423	1	0	0	0	0	1	0	0	0	13516	159	6	4	2107	4	ROBO4	11	124765421	Missense_Mutation	SNP	A	TCGA-X4-A8KQ-01A-12D-A364-08	66769432	124765421	10241095	34	20486											
NANOG	79923	broad.mit.edu	37	chr12	7947285	7947285	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tctctttcagaaggcctcagCacctacctaccccagccttt	8	11	5	17	0	3	1	2	0	1	1	4	1	3	1	6	1	4	1	6	1	3	4			TCGA-X4-A8KQ-01A-12D-A364-08	TCGA-X4-A8KQ-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04ded7a3-d7f2-43a0-9124-6e5a89a0013c	88958ce2-ad68-4691-967e-716477ec338a	g.chr12:7947285C>A	ENST00000229307.4	+	4	731	c.512C>A	c.(511-513)gCa>gAa	p.A171E	NANOG_ENST00000526286.1_Intron	NM_024865.2	NP_079141.2	Q9H9S0	NANOG_HUMAN	Nanog homeobox	171					cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|embryo development (GO:0009790)|embryonic pattern specification (GO:0009880)|endodermal cell fate specification (GO:0001714)|gonad development (GO:0008406)|mesodermal cell fate commitment (GO:0001710)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of cell fate commitment (GO:0010454)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell proliferation (GO:0008284)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell differentiation (GO:0045595)|regulation of gene expression (GO:0010468)|regulation of transcription, DNA-templated (GO:0006355)|response to retinoic acid (GO:0032526)|somatic stem cell maintenance (GO:0035019)|stem cell division (GO:0017145)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|enhancer sequence-specific DNA binding (GO:0001158)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	14				Kidney(36;0.0872)		AAGGCCTCAGCACCTACCTAC	0.507																																						ENST00000229307.4																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	14						c.(511-513)gCa>gAa		Nanog homeobox							65	62	63					12																	7947285		2203	4300	6503	SO:0001583	missense	79923				cell proliferation|embryo development|somatic stem cell maintenance	nucleolus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr12:7947285C>A	AB093576	CCDS31736.1, CCDS73436.1	12p13.31	2011-06-20			ENSG00000111704	ENSG00000111704		"Homeoboxes / ANTP class : NKL subclass"	20857	protein-coding gene	gene with protein product		607937				12787505, 12787504	Standard	XM_005253484		Approved	FLJ12581, FLJ40451	uc009zfy.1	Q9H9S0		ENST00000229307.4:c.512C>A	12.37:g.7947285C>A	ENSP00000229307:p.Ala171Glu					NANOG_ENST00000526286.1_Intron	p.A171E	NM_024865.2	NP_079141.2	Q9H9S0	NANOG_HUMAN		Kidney(36;0.0872)	4	731	+			171					D3DUU4|Q2TTG0|Q6JZS5	Missense_Mutation	SNP	ENST00000229307.4	37	c.512C>A	CCDS31736.1	.	.	.	.	.	.	.	.	.	.	.	5.489	0.275236	0.10403	.	.	ENSG00000111704	ENST00000541267;ENST00000229307	D;D	0.91894	-2.89;-2.93	4.21	1.22	0.21188	.	0.726858	0.12982	N	0.423172	D	0.90974	0.7162	L	0.51422	1.61	0.09310	N	1	D	0.69078	0.997	D	0.66084	0.941	T	0.80369	-0.1411	10	0.06625	T	0.88	0.6613	4.2405	0.10645	0.0:0.5909:0.1908:0.2183	.	171	Q9H9S0	NANOG_HUMAN	E	147;171	ENSP00000444434:A147E;ENSP00000229307:A171E	ENSP00000229307:A171E	A	+	2	0	NANOG	7838552	0.000000	0.05858	0.002000	0.10522	0.293000	0.27360	0.061000	0.14366	0.322000	0.23283	0.555000	0.69702	GCA		0.507	NANOG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387480.2	NM_024865		9	11	1	0	0.00621372	1	0.00630786	9	11					A	7947285	C	A	7947285	3	1	423	1	0	0	0	0	1	0	0	0	10150	710	25	5	526	5	NANOG	12	7947285	Missense_Mutation	SNP	C	TCGA-X4-A8KQ-01A-12D-A364-08		7947285	125904610	35	20487											
MLL2	8085	broad.mit.edu	37	chr12	49444975	49444976	+	Frame_Shift_Del	DEL	AT	AT	-																															agactggggggacaggtgtgAttcctcaggttggggggaca																										TCGA-X4-A8KQ-01A-12D-A364-08	TCGA-X4-A8KQ-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04ded7a3-d7f2-43a0-9124-6e5a89a0013c	88958ce2-ad68-4691-967e-716477ec338a	g.chr12:49444975_49444976delAT	ENST00000301067.7	-	10	2489_2490	c.2490_2491delAT	c.(2488-2493)gaatcafs	p.ES830fs		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	830	Pro-rich.			Missing (in Ref. 1; AAC51734). {ECO:0000305}.	chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)										GACAGGTGTGATTCCTCAGGTT	0.644																																						ENST00000301067.7																			0											c.(2488-2493)gacafs		lysine (K)-specific methyltransferase 2D																																				SO:0001589	frameshift_variant	8085							g.chr12:49444975_49444976delAT	AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	7133	protein-coding gene	gene with protein product		602113	"trinucleotide repeat containing 21", "myeloid/lymphoid or mixed-lineage leukemia 2"	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.2490_2491delAT	12.37:g.49444975_49444976delAT	ENSP00000301067:p.Glu830fs						p.ES830fs	NM_003482.3	NP_003473.3					10	2489_2490	-								O14687	Frame_Shift_Del	DEL	ENST00000301067.7	37	c.2490_2491delAT	CCDS44873.1																																																																																				0.644	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2			21	68						21	68	---	---	---	---	-	49444976	AT	-	49444975	7	5	423	1	0	1	0	1	0	0	0	0	9621	333	12	0	14302	0	MLL2	12	49444975	Frame_Shift_Del	DEL	AT	TCGA-X4-A8KQ-01A-12D-A364-08	41497690	49444975	84406920	36	20488											
SPATS2	65244	broad.mit.edu	37	chr12	49888746	49888746	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tagatgccagagaattggagGatcccgagtctgccatgcta	11	9	12	9	1	1	2	0	0	1	2	2	6	2	4	3	2	3	1	3	2	3	3			TCGA-X4-A8KQ-01A-12D-A364-08	TCGA-X4-A8KQ-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04ded7a3-d7f2-43a0-9124-6e5a89a0013c	88958ce2-ad68-4691-967e-716477ec338a	g.chr12:49888746G>T	ENST00000553127.1	+	8	1000	c.487G>T	c.(487-489)Gat>Tat	p.D163Y	SPATS2_ENST00000552918.1_Missense_Mutation_p.D163Y|SPATS2_ENST00000321898.6_Missense_Mutation_p.D163Y|SPATS2_ENST00000552557.1_3'UTR			Q86XZ4	SPAS2_HUMAN	spermatogenesis associated, serine-rich 2	163						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(1)|prostate(1)|urinary_tract(4)	21						AGAATTGGAGGATCCCGAGTC	0.438																																						ENST00000553127.1																			0				breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(1)|prostate(1)|urinary_tract(4)	21						c.(487-489)Gat>Tat		spermatogenesis associated, serine-rich 2							101	95	97					12																	49888746		2203	4300	6503	SO:0001583	missense	65244					cytoplasm		g.chr12:49888746G>T	AK023179	CCDS31794.1	12q13.12	2009-06-12							18650	protein-coding gene	gene with protein product		611667				11944913, 17989879	Standard	NM_023071		Approved	SPATA10, SCR59, FLJ13117	uc001rud.2	Q86XZ4		ENST00000553127.1:c.487G>T	12.37:g.49888746G>T	ENSP00000448228:p.Asp163Tyr					SPATS2_ENST00000552918.1_Missense_Mutation_p.D163Y|SPATS2_ENST00000552557.1_3'UTR|SPATS2_ENST00000321898.6_Missense_Mutation_p.D163Y	p.D163Y			Q86XZ4	SPAS2_HUMAN			8	1000	+			163					A8K8G9|Q9H7D4|Q9H8Y7|Q9H8Z8	Missense_Mutation	SNP	ENST00000553127.1	37	c.487G>T	CCDS31794.1	.	.	.	.	.	.	.	.	.	.	G	19.87	3.907145	0.72868	.	.	ENSG00000123352	ENST00000553127;ENST00000321898;ENST00000552918;ENST00000395063	.	.	.	5.34	5.34	0.76211	.	0.097055	0.64402	D	0.000002	T	0.78142	0.4237	M	0.70595	2.14	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.78069	-0.2348	8	.	.	.	-18.5478	16.5345	0.84369	0.0:0.0:1.0:0.0	.	163	Q86XZ4	SPAS2_HUMAN	Y	163	.	.	D	+	1	0	SPATS2	48175013	1.000000	0.71417	0.994000	0.49952	0.913000	0.54294	5.261000	0.65496	2.492000	0.84095	0.655000	0.94253	GAT		0.438	SPATS2-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404023.1	NM_023071		8	42	1	0	0.000274275	1	0.000287132	8	42					T	49888746	G	T	49888746	3	4	423	1	0	0	0	0	1	0	0	0	15018	1174	41	5	505	5	SPATS2	12	49888746	Missense_Mutation	SNP	G	TCGA-X4-A8KQ-01A-12D-A364-08	443771	49888746	83963149	37	20489											
GALNT6	11226	broad.mit.edu	37	chr12	51754523	51754523	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acccggaaggacatttccacGttctcccctccccagatctc	8	9	6	18	2	2	1	0	0	2	1	6	3	4	3	6	2	0	1	6	2	1	2	rs138065864		TCGA-X4-A8KQ-01A-12D-A364-08	TCGA-X4-A8KQ-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04ded7a3-d7f2-43a0-9124-6e5a89a0013c	88958ce2-ad68-4691-967e-716477ec338a	g.chr12:51754523G>A	ENST00000543196.2	-	6	1354	c.1149C>T	c.(1147-1149)aaC>aaT	p.N383N	GALNT6_ENST00000356317.3_Silent_p.N383N			Q8NCL4	GALT6_HUMAN	polypeptide N-acetylgalactosaminyltransferase 6	383	Catalytic subdomain B.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein O-linked glycosylation (GO:0006493)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)	p.N383N(1)		endometrium(2)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						ACATTTCCACGTTCTCCCCTC	0.542																																						ENST00000543196.2																			1	Substitution - coding silent(1)	p.N383N(1)	large_intestine(1)	endometrium(2)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						c.(1147-1149)aaC>aaT		UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 6 (GalNAc-T6)		G		1,4405	2.1+/-5.4	0,1,2202	133	115	121		1149	3.7	1	12	dbSNP_134	121	0,8600		0,0,4300	no	coding-synonymous	GALNT6	NM_007210.3		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		383/623	51754523	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	11226				protein O-linked glycosylation	Golgi membrane|integral to membrane|perinuclear region of cytoplasm	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr12:51754523G>A	Y08565	CCDS8813.1	12q13	2014-03-13	2014-03-13		ENSG00000139629	ENSG00000139629		"Glycosyltransferase family 2 domain containing"	4128	protein-coding gene	gene with protein product	"polypeptide GalNAc transferase 6"	605148	"UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 6 (GalNAc-T6)"			10464263	Standard	NM_007210		Approved	GalNAc-T6	uc001ryl.1	Q8NCL4		ENST00000543196.2:c.1149C>T	12.37:g.51754523G>A						GALNT6_ENST00000356317.3_Silent_p.N383N	p.N383N			Q8NCL4	GALT6_HUMAN			6	1354	-			383			Catalytic subdomain B.		Q8IYH4|Q9H6G2|Q9UIV5	Silent	SNP	ENST00000543196.2	37	c.1149C>T	CCDS8813.1																																																																																				0.542	GALNT6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000469735.1	NM_007210		19	37	0	0	0	1	0	19	37					A	51754523	G	A	51754523	2	1	423	1	0	0	0	0	0	0	0	1	6217	1136	40	1		1	GALNT6	12	51754523	Silent	SNP	G	TCGA-X4-A8KQ-01A-12D-A364-08	1865777	51754523	82097372	38	20490											
NCOR2	9612	broad.mit.edu	37	chr12	124957641	124957642	+	Frame_Shift_Ins	INS	-	-	A																															gtgtgcggggggctggggggINSagacaccggttccagcttgc																										TCGA-X4-A8KQ-01A-12D-A364-08	TCGA-X4-A8KQ-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04ded7a3-d7f2-43a0-9124-6e5a89a0013c	88958ce2-ad68-4691-967e-716477ec338a	g.chr12:124957641_124957642insA	ENST00000405201.1	-	4	447_448	c.447_448insT	c.(445-450)tctcccfs	p.P150fs	NCOR2_ENST00000356219.3_Frame_Shift_Ins_p.P150fs|NCOR2_ENST00000404121.2_5'UTR|NCOR2_ENST00000397355.1_Frame_Shift_Ins_p.P150fs|NCOR2_ENST00000404621.1_Frame_Shift_Ins_p.P150fs|NCOR2_ENST00000429285.2_Frame_Shift_Ins_p.P150fs			Q9Y618	NCOR2_HUMAN	nuclear receptor corepressor 2	150					cellular lipid metabolic process (GO:0044255)|gene expression (GO:0010467)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|regulation of cellular ketone metabolic process by negative regulation of transcription from RNA polymerase II promoter (GO:0072365)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	membrane (GO:0016020)|nuclear body (GO:0016604)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone deacetylase binding (GO:0042826)|Notch binding (GO:0005112)|protein N-terminus binding (GO:0047485)|transcription corepressor activity (GO:0003714)			breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		GGGCTGGGGGGAGACACCGGTT	0.639																																						ENST00000356219.3																			0				breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						c.(445-450)tcccccfs		nuclear receptor corepressor 2																																				SO:0001589	frameshift_variant	9612				cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity	g.chr12:124957641_124957642insA	U37146	CCDS41857.1, CCDS41858.1, CCDS41857.2, CCDS41858.2, CCDS55892.1	12q24	2010-06-10	2010-06-10		ENSG00000196498	ENSG00000196498			7673	protein-coding gene	gene with protein product		600848	"nuclear receptor co-repressor 2"			7566127, 8813722	Standard	NM_001077261		Approved	SMRT, SMRTE, TRAC-1, CTG26, TNRC14	uc010tbb.2	Q9Y618	OTTHUMG00000150455	ENST00000405201.1:c.448dupT	12.37:g.124957642_124957642dupA	ENSP00000384018:p.Pro150fs					NCOR2_ENST00000404621.1_Frame_Shift_Ins_p.SP149fs|NCOR2_ENST00000404121.2_5'UTR|NCOR2_ENST00000397355.1_Frame_Shift_Ins_p.SP149fs|NCOR2_ENST00000429285.2_Frame_Shift_Ins_p.SP149fs|NCOR2_ENST00000405201.1_Frame_Shift_Ins_p.SP149fs	p.SP149fs	NM_006312.5	NP_006303.4	Q9Y618	NCOR2_HUMAN		Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)	5	602_603	-	all_neural(191;0.0804)|Medulloblastoma(191;0.163)		149					O00613|O15416|O15421|Q13354|Q56D06|Q59GM0|Q9Y5U0	Frame_Shift_Ins	INS	ENST00000405201.1	37	c.447_448insT	CCDS41858.2																																																																																				0.639	NCOR2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318173.2	NM_006312		17	43						17	43	---	---	---	---	A	124957642	-	A	124957641	7	5	423	1	0	1	1	0	0	0	0	0	10236	1174	41	0	7296	0	NCOR2	12	124957641	Frame_Shift_Ins	INS	-	TCGA-X4-A8KQ-01A-12D-A364-08	73203118	124957641	8894254	39	20491											
POSTN	10631	broad.mit.edu	37	chr13	38164612	38164612	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aggcgtcagaatagcgctgcGttgtggtggctcccacgatg	7	9	15	10	4	1	1	1	0	0	1	2	2	2	1	1	3	2	3	1	3	2	2	rs201568682		TCGA-X4-A8KQ-01A-12D-A364-08	TCGA-X4-A8KQ-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04ded7a3-d7f2-43a0-9124-6e5a89a0013c	88958ce2-ad68-4691-967e-716477ec338a	g.chr13:38164612G>A	ENST00000379747.4	-	4	455	c.338C>T	c.(337-339)aCg>aTg	p.T113M	POSTN_ENST00000541481.1_Missense_Mutation_p.T113M|POSTN_ENST00000379743.4_Missense_Mutation_p.T113M|POSTN_ENST00000541179.1_Missense_Mutation_p.T113M|POSTN_ENST00000379749.4_Missense_Mutation_p.T113M|POSTN_ENST00000379742.4_Missense_Mutation_p.T113M	NM_006475.2	NP_006466.2	Q15063	POSTN_HUMAN	periostin, osteoblast specific factor	113	FAS1 1. {ECO:0000255|PROSITE- ProRule:PRU00082, ECO:0000305}.				cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|regulation of Notch signaling pathway (GO:0008593)|skeletal system development (GO:0001501)|tissue development (GO:0009888)	proteinaceous extracellular matrix (GO:0005578)|trans-Golgi network (GO:0005802)	heparin binding (GO:0008201)			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(16)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	59		Lung NSC(96;2.09e-05)|Prostate(109;0.0513)|Breast(139;0.0538)|Lung SC(185;0.0743)		all cancers(112;2.48e-08)|Epithelial(112;2.78e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000853)|BRCA - Breast invasive adenocarcinoma(63;0.013)|GBM - Glioblastoma multiforme(144;0.0154)		ATAGCGCTGCGTTGTGGTGGC	0.473													G|||	1	0.000199681	0	0	5008	,	,		12901	0		0.001	False		,,,				2504	0					ENST00000379747.4																			0				cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(16)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	59						c.(337-339)aCg>aTg		periostin, osteoblast specific factor							109	95	100					13																	38164612		2203	4300	6503	SO:0001583	missense	10631				cell adhesion|skeletal system development	proteinaceous extracellular matrix	heparin binding	g.chr13:38164612G>A	D13665	CCDS9364.1, CCDS45034.1, CCDS53864.1, CCDS66530.1, CCDS66531.1	13q13.3	2008-02-05			ENSG00000133110	ENSG00000133110			16953	protein-coding gene	gene with protein product		608777				8363580, 12235007	Standard	NM_006475		Approved	OSF-2, PN, periostin	uc001uwo.4	Q15063	OTTHUMG00000016751	ENST00000379747.4:c.338C>T	13.37:g.38164612G>A	ENSP00000369071:p.Thr113Met					POSTN_ENST00000379743.4_Missense_Mutation_p.T113M|POSTN_ENST00000379749.4_Missense_Mutation_p.T113M|POSTN_ENST00000541179.1_Missense_Mutation_p.T113M|POSTN_ENST00000379742.4_Missense_Mutation_p.T113M|POSTN_ENST00000541481.1_Missense_Mutation_p.T113M	p.T113M	NM_006475.2	NP_006466.2	Q15063	POSTN_HUMAN		all cancers(112;2.48e-08)|Epithelial(112;2.78e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000853)|BRCA - Breast invasive adenocarcinoma(63;0.013)|GBM - Glioblastoma multiforme(144;0.0154)	4	455	-		Lung NSC(96;2.09e-05)|Prostate(109;0.0513)|Breast(139;0.0538)|Lung SC(185;0.0743)	113			FAS1 1.		B1ALD8|C0IMJ1|C0IMJ2|C0IMJ4|D2KRH7|F5H628|Q15064|Q29XZ0|Q3KPJ5|Q5VSY5|Q8IZF9	Missense_Mutation	SNP	ENST00000379747.4	37	c.338C>T	CCDS9364.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	23.2	4.385346	0.82792	.	.	ENSG00000133110	ENST00000541179;ENST00000379749;ENST00000379747;ENST00000379743;ENST00000379742;ENST00000541481;ENST00000538347	D;D;D;D;D;D	0.90261	-2.64;-2.64;-2.64;-2.64;-2.64;-2.64	5.36	5.36	0.76844	FAS1 domain (4);	0.000000	0.85682	D	0.000000	D	0.94112	0.8112	L	0.54863	1.705	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	0.999;0.999;1.0;0.999;0.998;1.0;1.0	D	0.93125	0.6528	10	0.38643	T	0.18	.	19.0894	0.93221	0.0:0.0:1.0:0.0	.	113;113;113;113;113;113;113	C0IMJ4;F5H628;B1ALD8;Q15063-3;Q15063-4;Q15063-2;Q15063	.;.;.;.;.;.;POSTN_HUMAN	M	113;113;113;113;113;113;30	ENSP00000437959:T113M;ENSP00000369073:T113M;ENSP00000369071:T113M;ENSP00000369067:T113M;ENSP00000369066:T113M;ENSP00000437953:T113M	ENSP00000369066:T113M	T	-	2	0	POSTN	37062612	1.000000	0.71417	0.896000	0.35187	0.818000	0.46254	9.476000	0.97823	2.515000	0.84797	0.650000	0.86243	ACG		0.473	POSTN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000044566.2	NM_006475		7	24	0	0	0	1	0	7	24					A	38164612	G	A	38164612	3	1	423	1	0	0	0	0	1	0	0	0	12259	1145	40	1	2252	1	POSTN	13	38164612	Missense_Mutation	SNP	G	TCGA-X4-A8KQ-01A-12D-A364-08		38164612	77005266	40	20492											
HSPA2	3306	broad.mit.edu	37	chr14	65009231	65009231	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacctacaacatcaagcagaCggtggaagacgagaaactga	17	5	10	9	2	1	4	1	1	0	3	1	6	1	5	1	2	5	1	1	2	6	2			TCGA-X4-A8KQ-01A-12D-A364-08	TCGA-X4-A8KQ-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04ded7a3-d7f2-43a0-9124-6e5a89a0013c	88958ce2-ad68-4691-967e-716477ec338a	g.chr14:65009231C>T	ENST00000394709.1	+	2	1740	c.1664C>T	c.(1663-1665)aCg>aTg	p.T555M	RP11-973N13.4_ENST00000554918.1_RNA|HSPA2_ENST00000247207.6_Missense_Mutation_p.T555M			P54652	HSP72_HUMAN	heat shock 70kDa protein 2	555					male meiosis (GO:0007140)|male meiosis I (GO:0007141)|negative regulation of inclusion body assembly (GO:0090084)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G2/M transition of mitotic cell cycle (GO:0031662)|protein refolding (GO:0042026)|response to unfolded protein (GO:0006986)|spermatid development (GO:0007286)|synaptonemal complex disassembly (GO:0070194)	blood microparticle (GO:0072562)|CatSper complex (GO:0036128)|cell surface (GO:0009986)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|male germ cell nucleus (GO:0001673)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|glycolipid binding (GO:0051861)|unfolded protein binding (GO:0051082)			breast(1)|endometrium(4)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	22				all cancers(60;0.00515)|OV - Ovarian serous cystadenocarcinoma(108;0.00584)|BRCA - Breast invasive adenocarcinoma(234;0.045)		ATCAAGCAGACGGTGGAAGAC	0.547																																					Pancreas(136;1211 1835 24894 31984 38227)	ENST00000247207.6																			0				breast(1)|endometrium(4)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	22						c.(1663-1665)aCg>aTg		heat shock 70kDa protein 2							99	99	99					14																	65009231		2203	4300	6503	SO:0001583	missense	3306				response to unfolded protein|spermatid development	cell surface	ATP binding|unfolded protein binding	g.chr14:65009231C>T	L26336, BC001752	CCDS9766.1	14q23	2012-10-02	2002-08-29		ENSG00000126803	ENSG00000126803		"Heat shock proteins / HSP70"	5235	protein-coding gene	gene with protein product		140560	"heat shock 70kD protein 2"				Standard	NM_021979		Approved		uc001xhk.4	P54652	OTTHUMG00000141311	ENST00000394709.1:c.1664C>T	14.37:g.65009231C>T	ENSP00000378199:p.Thr555Met					HSPA2_ENST00000394709.1_Missense_Mutation_p.T555M	p.T555M	NM_021979.3	NP_068814.2	P54652	HSP72_HUMAN		all cancers(60;0.00515)|OV - Ovarian serous cystadenocarcinoma(108;0.00584)|BRCA - Breast invasive adenocarcinoma(234;0.045)	1	2046	+			555					Q15508|Q53XM3|Q9UE78	Missense_Mutation	SNP	ENST00000394709.1	37	c.1664C>T	CCDS9766.1	.	.	.	.	.	.	.	.	.	.	C	10.80	1.451182	0.26074	.	.	ENSG00000126803	ENST00000394709;ENST00000247207;ENST00000545222	T;T	0.15372	2.43;2.43	5.31	4.4	0.53042	.	0.000000	0.56097	U	0.000030	T	0.30479	0.0766	M	0.90145	3.09	0.35692	D	0.814895	B	0.28636	0.218	B	0.25405	0.06	T	0.49103	-0.8974	10	0.72032	D	0.01	-0.6502	15.7842	0.78289	0.0:0.8633:0.1367:0.0	.	555	P54652	HSP72_HUMAN	M	555;555;329	ENSP00000378199:T555M;ENSP00000247207:T555M	ENSP00000247207:T555M	T	+	2	0	HSPA2	64078984	0.989000	0.36119	0.999000	0.59377	0.993000	0.82548	2.506000	0.45433	1.212000	0.43366	0.558000	0.71614	ACG		0.547	HSPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280651.1			13	35	0	0	0	1	0	13	35					T	65009231	C	T	65009231	3	4	423	1	0	0	0	0	1	0	0	0	7411	536	19	1	1666	1	HSPA2	14	65009231	Missense_Mutation	SNP	C	TCGA-X4-A8KQ-01A-12D-A364-08		65009231	42340309	41	20493											
GRIN2A	2903	broad.mit.edu	37	chr16	10274038	10274038	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtgatgaggctcttggggtcGgtgcggttcatcagcagagc	6	10	17	8	2	3	3	2	2	1	1	4	3	3	3	0	5	3	3	0	5	0	2			TCGA-X4-A8KQ-01A-12D-A364-08	TCGA-X4-A8KQ-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04ded7a3-d7f2-43a0-9124-6e5a89a0013c	88958ce2-ad68-4691-967e-716477ec338a	g.chr16:10274038G>A	ENST00000396573.2	-	3	540	c.231C>T	c.(229-231)acC>acT	p.T77T	GRIN2A_ENST00000404927.2_Silent_p.T77T|GRIN2A_ENST00000562109.1_Silent_p.T77T|GRIN2A_ENST00000330684.3_Silent_p.T77T|GRIN2A_ENST00000396575.2_Silent_p.T77T	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	77					directional locomotion (GO:0033058)|dopamine metabolic process (GO:0042417)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning or memory (GO:0007611)|memory (GO:0007613)|negative regulation of protein catabolic process (GO:0042177)|neurogenesis (GO:0022008)|positive regulation of apoptotic process (GO:0043065)|protein localization (GO:0008104)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic plasticity (GO:0048167)|response to amphetamine (GO:0001975)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to wounding (GO:0009611)|sensory perception of pain (GO:0019233)|serotonin metabolic process (GO:0042428)|sleep (GO:0030431)|startle response (GO:0001964)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)|visual learning (GO:0008542)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Glycine(DB00145)|Halothane(DB01159)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	TCTTGGGGTCGGTGCGGTTCA	0.667																																						ENST00000396573.2																			0				NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198						c.(229-231)acC>acT		glutamate receptor, ionotropic, N-methyl D-aspartate 2A	Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)						96	93	94					16																	10274038		2197	4300	6497	SO:0001819	synonymous_variant	0				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	g.chr16:10274038G>A		CCDS10539.1, CCDS45407.1	16p13.2	2012-08-29			ENSG00000183454	ENSG00000183454		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4585	protein-coding gene	gene with protein product		138253		NMDAR2A		9480759	Standard	XM_005255267		Approved	GluN2A	uc002czo.4	Q12879	OTTHUMG00000129721	ENST00000396573.2:c.231C>T	16.37:g.10274038G>A						GRIN2A_ENST00000404927.2_Silent_p.T77T|GRIN2A_ENST00000562109.1_Silent_p.T77T|GRIN2A_ENST00000330684.3_Silent_p.T77T|GRIN2A_ENST00000396575.2_Silent_p.T77T	p.T77T	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN			3	540	-			77					O00669|Q17RZ6	Silent	SNP	ENST00000396573.2	37	c.231C>T	CCDS10539.1																																																																																				0.667	GRIN2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251930.3			33	80	0	0	0	1	0	33	80					A	10274038	G	A	10274038	2	1	423	1	0	0	0	0	0	0	0	1	6779	1103	39	2		2	GRIN2A	16	10274038	Silent	SNP	G	TCGA-X4-A8KQ-01A-12D-A364-08		10274038	80080715	42	20494											
C17orf66	256957	broad.mit.edu	37	chr17	34192290	34192290	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cgctgatcatacaggtcgtgCcagtgcgtgtagatctcagg	8	10	13	10	3	2	2	2	1	1	1	4	2	2	2	1	2	3	2	1	2	2	2			TCGA-X4-A8KQ-01A-12D-A364-08	TCGA-X4-A8KQ-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04ded7a3-d7f2-43a0-9124-6e5a89a0013c	88958ce2-ad68-4691-967e-716477ec338a	g.chr17:34192290C>T	ENST00000311880.2	-	3	397	c.249G>A	c.(247-249)tgG>tgA	p.W83*	C17orf66_ENST00000592980.1_Nonsense_Mutation_p.W83*|C17orf66_ENST00000587585.1_5'UTR	NM_152781.2	NP_689994.2	A2RTY3	HEAT9_HUMAN		83					hematopoietic progenitor cell differentiation (GO:0002244)					breast(3)|central_nervous_system(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(6)|lung(11)|skin(2)|stomach(4)	38		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0184)		ACAGGTCGTGCCAGTGCGTGT	0.502																																						ENST00000311880.2																			0				breast(3)|central_nervous_system(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(6)|lung(11)|skin(2)|stomach(4)	38						c.(247-249)tgG>tgA		chromosome 17 open reading frame 66							223	186	198					17																	34192290		2203	4300	6503	SO:0001587	stop_gained	256957						binding	g.chr17:34192290C>T																												ENST00000311880.2:c.249G>A	17.37:g.34192290C>T	ENSP00000309560:p.Trp83*					C17orf66_ENST00000592980.1_Nonsense_Mutation_p.W83*|C17orf66_ENST00000587585.1_5'UTR	p.W83*	NM_152781.2	NP_689994.2	A2RTY3	CQ066_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0184)	3	397	-		Ovarian(249;0.17)	83					B4DX21|B4DXA4|B4DXF0|Q8N4R4|Q96M46	Nonsense_Mutation	SNP	ENST00000311880.2	37	c.249G>A	CCDS11299.1	.	.	.	.	.	.	.	.	.	.	C	23.7	4.449274	0.84101	.	.	ENSG00000172653	ENST00000311880	.	.	.	4.27	4.27	0.50696	.	0.000000	0.46758	D	0.000280	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.4901	0.55895	0.0:1.0:0.0:0.0	.	.	.	.	X	83	.	ENSP00000309560:W83X	W	-	3	0	C17orf66	31216403	0.977000	0.34250	0.982000	0.44146	0.097000	0.18754	3.018000	0.49625	2.679000	0.91253	0.655000	0.94253	TGG		0.502	C17orf66-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256487.1			6	23	0	0	0	1	0	6	23					T	34192290	C	T	34192290	4	4	423	1	0	0	0	0	0	1	0	0	1874	740	26	3	1515	3	C17orf66	17	34192290	Nonsense_Mutation	SNP	C	TCGA-X4-A8KQ-01A-12D-A364-08		34192290	47002920	43	20495											
RNF43	54894	broad.mit.edu	37	chr17	56439945	56439945	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcaccggatgcgcagcaccGaagccaggatgatcacaaag	13	3	13	12	3	1	1	1	1	0	0	1	4	1	3	3	3	3	3	3	3	2	0			TCGA-X4-A8KQ-01A-12D-A364-08	TCGA-X4-A8KQ-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04ded7a3-d7f2-43a0-9124-6e5a89a0013c	88958ce2-ad68-4691-967e-716477ec338a	g.chr17:56439945G>T	ENST00000584437.1	-	5	2602	c.647C>A	c.(646-648)tCg>tAg	p.S216*	RNF43_ENST00000577716.1_Nonsense_Mutation_p.S216*|RNF43_ENST00000407977.2_Nonsense_Mutation_p.S216*|RNF43_ENST00000583753.1_Nonsense_Mutation_p.S175*|BZRAP1-AS1_ENST00000583841.1_RNA|RNF43_ENST00000577625.1_Nonsense_Mutation_p.S89*|RNF43_ENST00000581868.1_Nonsense_Mutation_p.S89*|RNF43_ENST00000500597.2_Nonsense_Mutation_p.S175*			Q68DV7	RNF43_HUMAN	ring finger protein 43	216					negative regulation of Wnt signaling pathway (GO:0030178)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|stem cell proliferation (GO:0072089)|Wnt receptor catabolic process (GO:0038018)|Wnt signaling pathway (GO:0016055)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)	frizzled binding (GO:0005109)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.S216L(2)|p.S216*(1)		NS(1)|biliary_tract(5)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(14)|lung(9)|ovary(2)|pancreas(10)|prostate(1)|skin(4)	60	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GCGCAGCACCGAAGCCAGGAT	0.597																																						ENST00000584437.1																			3	Substitution - Missense(2)|Substitution - Nonsense(1)	p.S216L(2)|p.S216*(1)	large_intestine(2)|pancreas(1)	NS(1)|biliary_tract(5)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(14)|lung(9)|ovary(2)|pancreas(10)|prostate(1)|skin(4)	60						c.(646-648)tCg>tAg		ring finger protein 43							84	73	77					17																	56439945		2203	4300	6503	SO:0001587	stop_gained	54894					endoplasmic reticulum membrane|integral to membrane|nuclear envelope	ligase activity|protein binding|zinc ion binding	g.chr17:56439945G>T		CCDS11607.1	17q23.2	2013-01-09						"RING-type (C3HC4) zinc fingers"	18505	protein-coding gene	gene with protein product		612482					Standard	NM_017763		Approved	FLJ20315, DKFZp781H0392, URCC	uc002iwh.4	Q68DV7		ENST00000584437.1:c.647C>A	17.37:g.56439945G>T	ENSP00000463069:p.Ser216*					RNF43_ENST00000500597.2_Nonsense_Mutation_p.S175*|RNF43_ENST00000577716.1_Nonsense_Mutation_p.S216*|RNF43_ENST00000577625.1_Nonsense_Mutation_p.S89*|RNF43_ENST00000583753.1_Nonsense_Mutation_p.S175*|RNF43_ENST00000407977.2_Nonsense_Mutation_p.S216*|BZRAP1-AS1_ENST00000583841.1_RNA|RNF43_ENST00000581868.1_Nonsense_Mutation_p.S89*	p.S216*			Q68DV7	RNF43_HUMAN			5	2602	-	Medulloblastoma(34;0.127)|all_neural(34;0.237)		216					A8K4R2|B7Z443|B7Z5D5|B7Z5J5|Q65ZA4|Q6AI04|Q9NXD0	Nonsense_Mutation	SNP	ENST00000584437.1	37	c.647C>A	CCDS11607.1	.	.	.	.	.	.	.	.	.	.	G	42	9.741573	0.99252	.	.	ENSG00000108375	ENST00000407977;ENST00000500597	.	.	.	5.43	3.44	0.39384	.	0.610117	0.16620	N	0.206515	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.21014	T	0.42	-19.4217	8.7259	0.34469	0.2594:0.0:0.7406:0.0	.	.	.	.	X	216;175	.	ENSP00000385328:S216X	S	-	2	0	RNF43	53794944	0.998000	0.40836	0.445000	0.26908	0.962000	0.63368	3.075000	0.50073	0.663000	0.31027	0.491000	0.48974	TCG		0.597	RNF43-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444713.1	NM_017763		7	35	1	0	1.06961e-07	1	1.15587e-07	7	35					T	56439945	G	T	56439945	4	4	423	1	0	0	0	0	0	1	0	0	13495	1059	37	5	1724	5	RNF43	17	56439945	Nonsense_Mutation	SNP	G	TCGA-X4-A8KQ-01A-12D-A364-08	22247655	56439945	24755265	44	20496											
FASN	2194	broad.mit.edu	37	chr17	80041237	80041237	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcccgccagtcagcactgctCtcgttgaagaacgcatccag	9	8	9	15	3	2	2	1	1	1	1	5	2	4	2	3	0	3	4	3	0	2	1			TCGA-X4-A8KQ-01A-12D-A364-08	TCGA-X4-A8KQ-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04ded7a3-d7f2-43a0-9124-6e5a89a0013c	88958ce2-ad68-4691-967e-716477ec338a	g.chr17:80041237C>T	ENST00000306749.2	-	32	5624	c.5406G>A	c.(5404-5406)gaG>gaA	p.E1802E	FASN_ENST00000579758.1_5'Flank	NM_004104.4	NP_004095.4	P49327	FAS_HUMAN	fatty acid synthase	1802	Enoyl reductase. {ECO:0000250}.				acetyl-CoA metabolic process (GO:0006084)|cellular lipid metabolic process (GO:0044255)|cellular response to interleukin-4 (GO:0071353)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|fatty acid metabolic process (GO:0006631)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|osteoblast differentiation (GO:0001649)|pantothenate metabolic process (GO:0015939)|positive regulation of cellular metabolic process (GO:0031325)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|glycogen granule (GO:0042587)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	3-hydroxyoctanoyl-[acyl-carrier-protein] dehydratase activity (GO:0047451)|3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity (GO:0004317)|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity (GO:0004316)|3-oxoacyl-[acyl-carrier-protein] synthase activity (GO:0004315)|[acyl-carrier-protein] S-acetyltransferase activity (GO:0004313)|[acyl-carrier-protein] S-malonyltransferase activity (GO:0004314)|drug binding (GO:0008144)|enoyl-[acyl-carrier-protein] reductase (NADPH, A-specific) activity (GO:0047117)|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity (GO:0004319)|fatty acid synthase activity (GO:0004312)|myristoyl-[acyl-carrier-protein] hydrolase activity (GO:0016295)|NADPH binding (GO:0070402)|oleoyl-[acyl-carrier-protein] hydrolase activity (GO:0004320)|palmitoyl-[acyl-carrier-protein] hydrolase activity (GO:0016296)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1)	34	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		Cerulenin(DB01034)|Orlistat(DB01083)	CAGCACTGCTCTCGTTGAAGA	0.647																																					Colon(59;314 1043 11189 28578 32273)	ENST00000306749.2																			0				central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1)	34						c.(5404-5406)gaG>gaA		fatty acid synthase	Cerulenin(DB01034)|Orlistat(DB01083)|Pyrazinamide(DB00339)						72	71	71					17																	80041237		2202	4298	6500	SO:0001819	synonymous_variant	2194				energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|pantothenate metabolic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	cytosol|Golgi apparatus|melanosome|plasma membrane	3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity|3-oxoacyl-[acyl-carrier-protein] synthase activity|[acyl-carrier-protein] S-acetyltransferase activity|[acyl-carrier-protein] S-malonyltransferase activity|acyl carrier activity|cofactor binding|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity|myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity|phosphopantetheine binding|protein binding|zinc ion binding	g.chr17:80041237C>T	U26644	CCDS11801.1	17q25	2012-01-31			ENSG00000169710	ENSG00000169710	2.3.1.85	"Short chain dehydrogenase/reductase superfamily / Atypical members"	3594	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 27X, member 1"	600212				7835891, 7567999, 19027726	Standard	NM_004104		Approved	FAS, SDR27X1	uc002kdu.3	P49327		ENST00000306749.2:c.5406G>A	17.37:g.80041237C>T							p.E1802E	NM_004104.4	NP_004095.4	P49327	FAS_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		32	5624	-	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		1802			Enoyl reductase (By similarity).		Q13479|Q16702|Q4LE83|Q6P4U5|Q6SS02|Q969R1|Q96C68|Q96IT0	Silent	SNP	ENST00000306749.2	37	c.5406G>A	CCDS11801.1																																																																																				0.647	FASN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442369.1	NM_004104		10	14	0	0	0	1	0	10	14					T	80041237	C	T	80041237	2	4	423	1	0	0	0	0	0	0	0	1	5683	912	32	3		3	FASN	17	80041237	Silent	SNP	C	TCGA-X4-A8KQ-01A-12D-A364-08	23601292	80041237	1153973	45	20497											
CYP4F2	8529	broad.mit.edu	37	chr19	16003207	16003207	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgtcagcatccgacggtggCggctccacttgtcaccagca	7	7	12	15	4	2	0	2	0	0	0	4	1	4	0	3	3	2	3	3	3	0	1	rs61755872	byFrequency	TCGA-X4-A8KQ-01A-12D-A364-08	TCGA-X4-A8KQ-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04ded7a3-d7f2-43a0-9124-6e5a89a0013c	88958ce2-ad68-4691-967e-716477ec338a	g.chr19:16003207C>T	ENST00000221700.6	-	5	532	c.437G>A	c.(436-438)cGc>cAc	p.R146H	CYP4F2_ENST00000011989.7_5'UTR	NM_001082.3	NP_001073.3			cytochrome P450, family 4, subfamily F, polypeptide 2											NS(2)|breast(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						CCGACGGTGGCGGCTCCACTT	0.562													.|||	2	0.000399361	0.0015	0	5008	,	,		18940	0		0	False		,,,				2504	0					ENST00000221700.5																			0				NS(2)|breast(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						c.(436-438)cGc>cAc		cytochrome P450, family 4, subfamily F, polypeptide 2		C	HIS/ARG	2,4404	6.2+/-15.9	0,2,2201	83	84	83		437	0.5	0.7	19	dbSNP_129	83	4,8596	3.7+/-12.6	0,4,4296	no	missense	CYP4F2	NM_001082.3	29	0,6,6497	TT,TC,CC		0.0465,0.0454,0.0461	benign	146/521	16003207	6,13000	2203	4300	6503	SO:0001583	missense	8529				leukotriene metabolic process|long-chain fatty acid metabolic process|very long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding|protein binding	g.chr19:16003207C>T	U02388	CCDS12336.1	19p13.12	2013-11-11	2003-01-14		ENSG00000186115	ENSG00000186115		"Cytochrome P450s"	2645	protein-coding gene	gene with protein product		604426	"cytochrome P450, subfamily IVF, polypeptide 2"			8424651, 8026587	Standard	NM_001082		Approved		uc002nbs.1	P78329	OTTHUMG00000185995	ENST00000221700.6:c.437G>A	19.37:g.16003207C>T	ENSP00000221700:p.Arg146His					CYP4F2_ENST00000011989.7_5'UTR|CYP4F2_ENST00000592328.1_Missense_Mutation_p.R146H	p.R146H	NM_001082.3	NP_001073.3	P78329	CP4F2_HUMAN			5	532	-			146						Missense_Mutation	SNP	ENST00000221700.6	37	c.437G>A	CCDS12336.1	.	.	.	.	.	.	.	.	.	.	c	9.490	1.100386	0.20552	4.54E-4	4.65E-4	ENSG00000186115	ENST00000221700	T	0.69306	-0.39	2.7	0.476	0.16779	.	0.089808	0.46442	U	0.000293	T	0.56877	0.2015	L	0.54908	1.71	0.80722	D	1	B	0.22800	0.075	B	0.29598	0.104	T	0.50882	-0.8775	10	0.44086	T	0.13	.	6.5262	0.22303	0.0:0.721:0.0:0.279	.	146	P78329	CP4F2_HUMAN	H	146	ENSP00000221700:R146H	ENSP00000221700:R146H	R	-	2	0	CYP4F2	15864207	0.002000	0.14202	0.704000	0.30370	0.509000	0.34042	0.701000	0.25616	0.440000	0.26502	0.289000	0.19496	CGC		0.562	CYP4F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460372.3	NM_001082		15	56	0	0	0	1	0	15	56					T	16003207	C	T	16003207	3	4	423	1	0	0	0	0	1	0	0	0	4188	768	27	1	1161	1	CYP4F2	19	16003207	Missense_Mutation	SNP	C	TCGA-X4-A8KQ-01A-12D-A364-08		16003207	43125776	46	20498											
MYO9B	4650	broad.mit.edu	37	chr19	17283599	17283599	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaagaacatggactacatgcGgccagacatcgtggccctgc	11	6	12	12	2	0	2	0	0	0	2	1	4	0	3	2	3	4	0	2	3	3	1			TCGA-X4-A8KQ-01A-12D-A364-08	TCGA-X4-A8KQ-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04ded7a3-d7f2-43a0-9124-6e5a89a0013c	88958ce2-ad68-4691-967e-716477ec338a	g.chr19:17283599G>A	ENST00000594824.1	+	13	2114	c.1967G>A	c.(1966-1968)cGg>cAg	p.R656Q	MYO9B_ENST00000397274.2_Missense_Mutation_p.R656Q|MYO9B_ENST00000595618.1_Missense_Mutation_p.R656Q			Q13459	MYO9B_HUMAN	myosin IXB	656	Myosin motor.				actin filament-based movement (GO:0030048)|establishment of cell polarity (GO:0030010)|lamellipodium morphogenesis (GO:0072673)|macrophage chemotaxis (GO:0048246)|monocyte chemotaxis (GO:0002548)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|filamentous actin (GO:0031941)|filopodium tip (GO:0032433)|lamellipodium (GO:0030027)|membrane (GO:0016020)|myosin complex (GO:0016459)|perinuclear region of cytoplasm (GO:0048471)|ruffle (GO:0001726)	actin binding (GO:0003779)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|Rho GTPase activator activity (GO:0005100)|zinc ion binding (GO:0008270)			breast(3)|endometrium(9)|kidney(2)|large_intestine(1)|lung(19)|soft_tissue(1)|urinary_tract(4)	39						GACTACATGCGGCCAGACATC	0.667																																						ENST00000595618.1																			0				breast(3)|endometrium(9)|kidney(2)|large_intestine(1)|lung(19)|soft_tissue(1)|urinary_tract(4)	39						c.(1966-1968)cGg>cAg		myosin IXB							68	77	74					19																	17283599		2114	4224	6338	SO:0001583	missense	4650				actin filament-based movement	cell cortex|cytosol|filamentous actin|myosin complex|perinuclear region of cytoplasm	actin binding|ADP binding|ATP binding|ATPase activity|calmodulin binding|metal ion binding|microfilament motor activity|Rho GTPase activator activity	g.chr19:17283599G>A		CCDS46010.1	19p13.1	2011-09-27				ENSG00000099331		"Myosins / Myosin superfamily : Class IX"	7609	protein-coding gene	gene with protein product		602129		CELIAC4		9226381	Standard	NM_004145		Approved		uc010eak.3	Q13459		ENST00000594824.1:c.1967G>A	19.37:g.17283599G>A	ENSP00000471367:p.Arg656Gln					MYO9B_ENST00000594824.1_Missense_Mutation_p.R656Q|MYO9B_ENST00000397274.2_Missense_Mutation_p.R656Q	p.R656Q	NM_001130065.1|NM_004145.3	NP_001123537.1|NP_004136.2	Q13459	MYO9B_HUMAN			13	2119	+			656			Myosin head-like.		O75314|Q9NUJ2|Q9UHN0	Missense_Mutation	SNP	ENST00000594824.1	37	c.1967G>A		.	.	.	.	.	.	.	.	.	.	G	35	5.422492	0.96111	.	.	ENSG00000099331	ENST00000397274	D	0.86956	-2.19	4.51	4.51	0.55191	Myosin head, motor domain (2);	0.000000	0.50627	D	0.000115	D	0.91317	0.7262	L	0.52364	1.645	0.46396	D	0.99902	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.998;0.998;0.999	D	0.92021	0.5626	10	0.59425	D	0.04	.	16.166	0.81757	0.0:0.0:1.0:0.0	.	656;656;662	Q13459;B0I1T6;Q4LE74	MYO9B_HUMAN;.;.	Q	656	ENSP00000380444:R656Q	ENSP00000380444:R656Q	R	+	2	0	MYO9B	17144599	1.000000	0.71417	0.995000	0.50966	0.951000	0.60555	9.700000	0.98707	2.218000	0.71995	0.655000	0.94253	CGG		0.667	MYO9B-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000463236.1			18	37	0	0	0	1	0	18	37					A	17283599	G	A	17283599	3	1	423	1	0	0	0	0	1	0	0	0	10085	1116	39	2	2013	2	MYO9B	19	17283599	Missense_Mutation	SNP	G	TCGA-X4-A8KQ-01A-12D-A364-08	1280392	17283599	41845384	47	20499											
HRC	3270	broad.mit.edu	37	chr19	49657892	49657892	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcagtggaggcctcctcttcCtcctcctcctcctcctcctc	2	13	5	21	0	2	0	1	0	1	0	11	1	10	1	9	2	0	0	9	2	0	1	rs571697189	byFrequency	TCGA-X4-A8KQ-01A-12D-A364-08	TCGA-X4-A8KQ-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04ded7a3-d7f2-43a0-9124-6e5a89a0013c	88958ce2-ad68-4691-967e-716477ec338a	g.chr19:49657892C>T	ENST00000252825.4	-	1	789	c.603G>A	c.(601-603)gaG>gaA	p.E201E	HRC_ENST00000595625.1_Silent_p.E201E	NM_002152.2	NP_002143.1	P23327	SRCH_HUMAN	histidine rich calcium binding protein	201	4 X tandem repeats, acidic.|6 X approximate tandem repeats.|Glu-rich (acidic).				cytosolic calcium ion homeostasis (GO:0051480)|muscle contraction (GO:0006936)|positive regulation of heart contraction (GO:0045823)|positive regulation of heart rate (GO:0010460)|positive regulation of relaxation of cardiac muscle (GO:1901899)|regulation of calcium ion transmembrane transport (GO:1903169)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cell communication by electrical coupling involved in cardiac conduction (GO:1901844)|regulation of heart rate (GO:0002027)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)	sarcoplasmic reticulum lumen (GO:0033018)|sarcoplasmic reticulum membrane (GO:0033017)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|calcium ion binding (GO:0005509)|ion channel binding (GO:0044325)			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(10)|lung(10)|ovary(1)|prostate(3)|urinary_tract(2)	34		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.01e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.00019)|GBM - Glioblastoma multiforme(486;0.00279)|Epithelial(262;0.00622)		cctcctcttcctcctcctcct	0.557													c|||	19	0.00379393	0.0106	0	5008	,	,		23115	0.003		0.001	False		,,,				2504	0.001				Melanoma(37;75 1097 24567 25669 30645)	ENST00000252825.4																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(10)|lung(10)|ovary(1)|prostate(3)|urinary_tract(2)	34						c.(601-603)gaG>gaA		histidine rich calcium binding protein							120	92	101					19																	49657892		2203	4300	6503	SO:0001819	synonymous_variant	3270				muscle contraction	sarcoplasmic reticulum lumen	calcium ion binding	g.chr19:49657892C>T		CCDS12759.1	19q13.3	2008-07-16	2001-11-28			ENSG00000130528			5178	protein-coding gene	gene with protein product		142705	"histidine-rich calcium-binding protein"			2037293	Standard	XR_243928		Approved	MGC133236	uc002pmv.3	P23327		ENST00000252825.4:c.603G>A	19.37:g.49657892C>T						HRC_ENST00000595625.1_Silent_p.E201E	p.E201E	NM_002152.2	NP_002143.1	P23327	SRCH_HUMAN		all cancers(93;2.01e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.00019)|GBM - Glioblastoma multiforme(486;0.00279)|Epithelial(262;0.00622)	1	789	-		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)	201			4 X tandem repeats, acidic.|6 X approximate tandem repeats.|Glu-rich (acidic).		Q504Y6	Silent	SNP	ENST00000252825.4	37	c.603G>A	CCDS12759.1																																																																																				0.557	HRC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465649.1	NM_002152		3	46	0	0	0	1	0	3	46					T	49657892	C	T	49657892	2	4	423	1	0	0	0	0	0	0	0	1	7352	680	24	3		3	HRC	19	49657892	Silent	SNP	C	TCGA-X4-A8KQ-01A-12D-A364-08	32374293	49657892	9471091	48	20500											
PKDREJ	10343	broad.mit.edu	37	chr22	46652736	46652736	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgaaataagttgatcaagaCgcagatcatcaccagcatga	16	8	8	9	1	3	5	3	3	0	2	3	5	3	5	1	0	1	3	1	0	3	2	rs76372072	byFrequency	TCGA-X4-A8KQ-01A-12D-A364-08	TCGA-X4-A8KQ-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04ded7a3-d7f2-43a0-9124-6e5a89a0013c	88958ce2-ad68-4691-967e-716477ec338a	g.chr22:46652736C>T	ENST00000253255.5	-	1	6483	c.6484G>A	c.(6484-6486)Gtc>Atc	p.V2162I		NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN	polycystin (PKD) family receptor for egg jelly	2162					acrosome reaction (GO:0007340)|calcium ion transmembrane transport (GO:0070588)|detection of mechanical stimulus (GO:0050982)|neuropeptide signaling pathway (GO:0007218)|regulation of acrosome reaction (GO:0060046)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)			NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		TTGATCAAGACGCAGATCATC	0.438													C|||	20	0.00399361	0	0.0014	5008	,	,		22468	0		0.004	False		,,,				2504	0.0153					ENST00000253255.5																			0				NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73						c.(6484-6486)Gtc>Atc		polycystin (PKD) family receptor for egg jelly		C	ILE/VAL	1,4405	2.1+/-5.4	0,1,2202	69	65	66		6484	-1.2	0.2	22	dbSNP_131	66	27,8573	19.2+/-60.6	0,27,4273	yes	missense	PKDREJ	NM_006071.1	29	0,28,6475	TT,TC,CC		0.314,0.0227,0.2153	benign	2162/2254	46652736	28,12978	2203	4300	6503	SO:0001583	missense	10343				acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity	g.chr22:46652736C>T	AF116458	CCDS14073.1	22q13.31	2013-07-31	2013-07-31		ENSG00000130943	ENSG00000130943			9015	protein-coding gene	gene with protein product		604670	"polycystic kidney disease (polycystin) and REJ (sperm receptor for egg jelly, sea urchin homolog)-like", "polycystic kidney disease (polycystin) and REJ (sperm receptor for egg jelly homolog, sea urchin)-like", "polycystic kidney disease (polycystin) and REJ homolog (sperm receptor for egg jelly homolog, sea urchin)"			9949214, 10591208	Standard	NM_006071		Approved		uc003bhh.3	Q9NTG1	OTTHUMG00000150493	ENST00000253255.5:c.6484G>A	22.37:g.46652736C>T	ENSP00000253255:p.Val2162Ile						p.V2162I	NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)	1	6483	-		Ovarian(80;0.00965)|all_neural(38;0.0416)	2162					B1AJY3|O95850	Missense_Mutation	SNP	ENST00000253255.5	37	c.6484G>A	CCDS14073.1	5	0.0022893772893772895	0	0.0	1	0.0027624309392265192	0	0.0	4	0.005277044854881266	C	1.026	-0.683404	0.03353	2.27E-4	0.00314	ENSG00000130943	ENST00000253255	T	0.68025	-0.3	5.56	-1.25	0.09405	Polycystin cation channel, PKD1/PKD2 (1);	0.500458	0.19230	N	0.119433	T	0.17662	0.0424	N	0.01048	-1.04	0.09310	N	1	B	0.23316	0.083	B	0.17433	0.018	T	0.37430	-0.9706	10	0.02654	T	1	-16.0576	5.5408	0.17038	0.0:0.4655:0.1792:0.3553	.	2162	Q9NTG1	PKDRE_HUMAN	I	2162	ENSP00000253255:V2162I	ENSP00000253255:V2162I	V	-	1	0	PKDREJ	45031400	0.214000	0.23563	0.180000	0.23079	0.511000	0.34104	0.016000	0.13377	-0.088000	0.12506	-0.455000	0.05494	GTC		0.438	PKDREJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318466.1	NM_006071		14	47	0	0	0	1	0	14	47					T	46652736	C	T	46652736	3	4	423	1	0	0	0	0	1	0	0	0	11970	536	19	1	281	1	PKDREJ	22	46652736	Missense_Mutation	SNP	C	TCGA-X4-A8KQ-01A-12D-A364-08		46652736	4651830	49	20501											
SBF1	6305	broad.mit.edu	37	chr22	50900074	50900074	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgccctcctcacgcccatccGgcagcaggtagacgcgcagg	7	4	12	18	5	1	1	1	0	0	1	3	1	3	1	4	3	1	4	4	3	1	1			TCGA-X4-A8KQ-01A-12D-A364-08	TCGA-X4-A8KQ-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04ded7a3-d7f2-43a0-9124-6e5a89a0013c	88958ce2-ad68-4691-967e-716477ec338a	g.chr22:50900074G>A	ENST00000390679.3	-	22	2901	c.2717C>T	c.(2716-2718)cCg>cTg	p.P906L	SBF1_ENST00000380817.3_Missense_Mutation_p.P906L|SBF1_ENST00000348911.6_Missense_Mutation_p.P907L			O95248	MTMR5_HUMAN	SET binding factor 1	906	GRAM.				cell death (GO:0008219)|positive regulation of Rab GTPase activity (GO:0032851)|protein dephosphorylation (GO:0006470)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	protein tyrosine/serine/threonine phosphatase activity (GO:0008138)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(8)|large_intestine(3)|lung(18)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	43		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)		ACGCCCATCCGGCAGCAGGTA	0.682																																						ENST00000380817.2																			0				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(8)|large_intestine(3)|lung(18)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	43						c.(2716-2718)cCg>cTg		SET binding factor 1							14	18	17					22																	50900074		2073	4183	6256	SO:0001583	missense	6305				protein dephosphorylation	integral to membrane|nucleus	protein tyrosine/serine/threonine phosphatase activity	g.chr22:50900074G>A	U93181	CCDS14091.1, CCDS14091.2	22q13.33	2013-01-10			ENSG00000100241	ENSG00000100241		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins", "DENN/MADD domain containing", "Pleckstrin homology (PH) domain containing"	10542	protein-coding gene	gene with protein product	"myotubularin related 5", "DENN/MADD domain containing 7A"	603560				9537414, 9736772	Standard	NM_002972		Approved	MTMR5, DENND7A	uc003blh.3	O95248	OTTHUMG00000150204	ENST00000390679.3:c.2717C>T	22.37:g.50900074G>A	ENSP00000375097:p.Pro906Leu					SBF1_ENST00000390679.3_Missense_Mutation_p.P906L|SBF1_ENST00000348911.6_Missense_Mutation_p.P907L	p.P906L	NM_002972.2	NP_002963.2	O95248	MTMR5_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)	22	2900	-		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)	906			GRAM.		A6PVG9|O60228|Q5JXD8|Q5PPM2|Q96GR9|Q9UGB8	Missense_Mutation	SNP	ENST00000390679.3	37	c.2717C>T		.	.	.	.	.	.	.	.	.	.	G	21.8	4.202910	0.79127	.	.	ENSG00000100241	ENST00000380817;ENST00000348911;ENST00000337034;ENST00000390679	D;D;D	0.86865	-2.18;-2.18;-2.18	4.1	4.1	0.47936	GRAM (2);	0.069044	0.64402	D	0.000016	D	0.92766	0.7700	M	0.78801	2.425	0.80722	D	1	D;D;D	0.69078	0.997;0.997;0.992	D;P;P	0.70935	0.971;0.766;0.67	D	0.93247	0.6631	10	0.51188	T	0.08	.	16.1138	0.81283	0.0:0.0:1.0:0.0	.	906;907;906	O95248;G5E933;O95248-4	MTMR5_HUMAN;.;.	L	906;907;916;906	ENSP00000370196:P906L;ENSP00000252027:P907L;ENSP00000375097:P906L	ENSP00000336522:P916L	P	-	2	0	SBF1	49246940	0.999000	0.42202	0.324000	0.25361	0.780000	0.44128	6.096000	0.71446	2.137000	0.66172	0.467000	0.42956	CCG		0.682	SBF1-201	KNOWN	basic	protein_coding	protein_coding				3	18	0	0	0	1	0	3	18					A	50900074	G	A	50900074	3	1	423	1	0	0	0	0	1	0	0	0	13858	1116	39	2	3044	2	SBF1	22	50900074	Missense_Mutation	SNP	G	TCGA-X4-A8KQ-01A-12D-A364-08	4247338	50900074	404492	50	20502											
HMGB3	3149	broad.mit.edu	37	chrX	150156360	150156360	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaagaggaggaggaagaagaGgaggaggaggaggaggagga	17	0	24	0	0	0	3	0	0	0	3	0	14	0	13	0	10	0	0	0	10	3	0			TCGA-X4-A8KQ-01A-12D-A364-08	TCGA-X4-A8KQ-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04ded7a3-d7f2-43a0-9124-6e5a89a0013c	88958ce2-ad68-4691-967e-716477ec338a	g.chrX:150156360G>A	ENST00000325307.7	+	5	672	c.576G>A	c.(574-576)gaG>gaA	p.E192E	HMGB3_ENST00000448905.2_Silent_p.E192E	NM_005342.2	NP_005333.2	O15347	HMGB3_HUMAN	high mobility group box 3	192	Asp/Glu-rich (acidic).				DNA recombination (GO:0006310)|multicellular organismal development (GO:0007275)	chromosome (GO:0005694)|nucleus (GO:0005634)	DNA binding, bending (GO:0008301)|double-stranded DNA binding (GO:0003690)|poly(A) RNA binding (GO:0044822)	p.E192E(1)		endometrium(3)|large_intestine(2)|lung(2)|skin(1)	8	Acute lymphoblastic leukemia(192;6.56e-05)					aggaagaagaggaggaggagg	0.443																																						ENST00000325307.7																			1	Substitution - coding silent(1)	p.E192E(1)	large_intestine(1)	endometrium(3)|large_intestine(2)|lung(2)|skin(1)	8						c.(574-576)gaG>gaA		high mobility group box 3							50	48	49					X																	150156360		2202	4299	6501	SO:0001819	synonymous_variant	3149				DNA recombination|multicellular organismal development	chromosome|nucleus	DNA bending activity|double-stranded DNA binding	g.chrX:150156360G>A	AF274572	CCDS35428.1	Xq28	2011-07-01	2011-04-05	2002-08-16	ENSG00000029993	ENSG00000029993		"High-mobility group / Canonical"	5004	protein-coding gene	gene with protein product	"non-histone chromosomal protein"	300193	"high-mobility group (nonhistone chromosomal) protein 4", "high-mobility group box 3"	HMG4		9598312	Standard	XM_005274665		Approved	HMG2A, MGC90319	uc004fep.3	O15347	OTTHUMG00000024162	ENST00000325307.7:c.576G>A	X.37:g.150156360G>A						HMGB3_ENST00000448905.2_Silent_p.E192E	p.E192E	NM_005342.2	NP_005333.2	O15347	HMGB3_HUMAN			5	672	+	Acute lymphoblastic leukemia(192;6.56e-05)		192			Asp/Glu-rich (acidic).		O95556|Q6NS40	Silent	SNP	ENST00000325307.7	37	c.576G>A	CCDS35428.1																																																																																				0.443	HMGB3-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060867.1	NM_005342		3	51	0	0	0	1	0	3	51					A	150156360	G	A	150156360	2	1	423	1	0	0	0	0	0	0	0	1	7227	991	35	3		3	HMGB3	23	150156360	Silent	SNP	G	TCGA-X4-A8KQ-01A-12D-A364-08		150156360	5114200	51	20503											
STIL	6491	broad.mit.edu	37	chr1	47746429	47746429	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aaatcgtgtggttgggactgCggggcaagagaagactgcct	10	8	16	7	2	0	2	0	0	0	2	1	4	0	3	1	4	2	2	1	4	3	1	rs368458430		TCGA-X4-A8KS-01A-12D-A364-08	TCGA-X4-A8KS-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82e2c88f-f5dd-441d-8a01-80d89c3f693d	a1004109-c2d6-4bb6-8dc9-d41d46ba165a	g.chr1:47746429C>T	ENST00000360380.3	-	13	2064	c.1701G>A	c.(1699-1701)ccG>ccA	p.P567P	STIL_ENST00000243182.6_Silent_p.P567P|STIL_ENST00000371877.3_Silent_p.P567P|STIL_ENST00000396221.2_Silent_p.P567P|STIL_ENST00000337817.5_Silent_p.P567P	NM_001282936.1	NP_001269865.1	Q15468	STIL_HUMAN	SCL/TAL1 interrupting locus	567					cell proliferation (GO:0008283)|determination of left/right symmetry (GO:0007368)|embryonic axis specification (GO:0000578)|floor plate development (GO:0033504)|forebrain development (GO:0030900)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|neural tube closure (GO:0001843)|neural tube development (GO:0021915)|notochord development (GO:0030903)|smoothened signaling pathway (GO:0007224)	centrosome (GO:0005813)|cytoplasm (GO:0005737)				central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	36		Acute lymphoblastic leukemia(5;0.00116)|all_hematologic(5;0.00444)				GTTGGGACTGCGGGGCAAGAG	0.433																																						ENST00000360380.3																			0				central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	36						c.(1699-1701)ccG>ccA		SCL/TAL1 interrupting locus		C	,	0,4406		0,0,2203	119	132	128		1701,1701	1.6	1	1		128	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	STIL	NM_001048166.1,NM_003035.2	,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,	567/1289,567/1288	47746429	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	6491				cell proliferation|multicellular organismal development	centrosome|cytosol		g.chr1:47746429C>T	M74558	CCDS548.1, CCDS41329.1, CCDS72785.1, CCDS72786.1	1p32	2010-02-09	2005-11-29	2005-11-29	ENSG00000123473	ENSG00000123473			10879	protein-coding gene	gene with protein product		181590	"TAL1 (SCL) interrupting locus"	SIL		2209547	Standard	NM_003035		Approved	MCPH7	uc001crd.1	Q15468	OTTHUMG00000007851	ENST00000360380.3:c.1701G>A	1.37:g.47746429C>T						STIL_ENST00000396221.2_Silent_p.P567P|STIL_ENST00000371877.3_Silent_p.P567P|STIL_ENST00000337817.5_Silent_p.P567P|STIL_ENST00000243182.6_Silent_p.P567P	p.P567P			Q15468	STIL_HUMAN			13	2064	-		Acute lymphoblastic leukemia(5;0.00116)|all_hematologic(5;0.00444)	567					Q5T0C5|Q68CN9	Silent	SNP	ENST00000360380.3	37	c.1701G>A	CCDS548.1																																																																																				0.433	STIL-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000021649.2	NM_003035		4	71	0	0	0	1	0	4	71					T	47746429	C	T	47746429	2	4	424	1	0	0	0	0	0	0	0	1	15281	755	27	1		1	STIL	1	47746429	Silent	SNP	C	TCGA-X4-A8KS-01A-12D-A364-08		47746429	201504192	1	20504											
RAP1A	5906	broad.mit.edu	37	chr1	112240073	112240073	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcccccacagcaagttgaagTcgattgccaacagtgtatgc	11	8	10	12	1	0	1	0	1	0	0	1	2	0	1	3	0	4	3	3	0	4	3			TCGA-X4-A8KS-01A-12D-A364-08	TCGA-X4-A8KS-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82e2c88f-f5dd-441d-8a01-80d89c3f693d	a1004109-c2d6-4bb6-8dc9-d41d46ba165a	g.chr1:112240073T>C	ENST00000369709.3	+	4	316	c.137T>C	c.(136-138)gTc>gCc	p.V46A	RAP1A_ENST00000494982.1_3'UTR|RAP1A_ENST00000545460.1_Missense_Mutation_p.V46A|RAP1A_ENST00000436150.2_Missense_Mutation_p.V46A|RAP1A_ENST00000356415.1_Missense_Mutation_p.V46A	NM_002884.2	NP_002875.1	P62834	RAP1A_HUMAN	RAP1A, member of RAS oncogene family	46					activation of MAPKK activity (GO:0000186)|blood coagulation (GO:0007596)|cellular response to cAMP (GO:0071320)|cellular response to nerve growth factor stimulus (GO:1990090)|energy reserve metabolic process (GO:0006112)|establishment of endothelial barrier (GO:0061028)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|nerve growth factor signaling pathway (GO:0038180)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of Rap GTPase activity (GO:0032854)|positive regulation of vasculogenesis (GO:2001214)|protein transport (GO:0015031)|Rap protein signal transduction (GO:0032486)|regulation of cell junction assembly (GO:1901888)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|guanyl-nucleotide exchange factor complex (GO:0032045)|late endosome (GO:0005770)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|protein complex binding (GO:0032403)|protein transporter activity (GO:0008565)|Rap guanyl-nucleotide exchange factor activity (GO:0017034)			endometrium(1)|large_intestine(2)|lung(3)	6		all_cancers(81;6.79e-06)|all_epithelial(167;2.42e-05)|all_lung(203;0.000105)|Lung NSC(277;0.00021)		Lung(183;0.0183)|Colorectal(144;0.0418)|LUSC - Lung squamous cell carcinoma(189;0.0966)|all cancers(265;0.098)|Epithelial(280;0.0981)|COAD - Colon adenocarcinoma(174;0.141)		CAAGTTGAAGTCGATTGCCAA	0.363																																						ENST00000369709.3																			0				endometrium(1)|large_intestine(2)|lung(3)	6						c.(136-138)gTc>gCc		RAP1A, member of RAS oncogene family							151	155	154					1																	112240073		2203	4300	6503	SO:0001583	missense	5906				activation of MAPKK activity|blood coagulation|energy reserve metabolic process|nerve growth factor receptor signaling pathway|regulation of insulin secretion	cytosol|plasma membrane	GTP binding|GTPase activity	g.chr1:112240073T>C	BC014086	CCDS840.1	1p13.3	2014-05-09			ENSG00000116473	ENSG00000116473			9855	protein-coding gene	gene with protein product		179520				3143720	Standard	XM_006710803		Approved	KREV-1, SMGP21	uc001ebl.3	P62834	OTTHUMG00000011959	ENST00000369709.3:c.137T>C	1.37:g.112240073T>C	ENSP00000358723:p.Val46Ala					RAP1A_ENST00000545460.1_Missense_Mutation_p.V46A|RAP1A_ENST00000356415.1_Missense_Mutation_p.V46A|RAP1A_ENST00000494982.1_3'UTR|RAP1A_ENST00000436150.2_Missense_Mutation_p.V46A	p.V46A	NM_002884.2	NP_002875.1	P62834	RAP1A_HUMAN		Lung(183;0.0183)|Colorectal(144;0.0418)|LUSC - Lung squamous cell carcinoma(189;0.0966)|all cancers(265;0.098)|Epithelial(280;0.0981)|COAD - Colon adenocarcinoma(174;0.141)	4	316	+		all_cancers(81;6.79e-06)|all_epithelial(167;2.42e-05)|all_lung(203;0.000105)|Lung NSC(277;0.00021)	46					P10113	Missense_Mutation	SNP	ENST00000369709.3	37	c.137T>C	CCDS840.1	.	.	.	.	.	.	.	.	.	.	T	18.94	3.730725	0.69074	.	.	ENSG00000116473	ENST00000356415;ENST00000433097;ENST00000369709;ENST00000436150;ENST00000545460	T;T;T;T;T	0.72282	-0.64;-0.64;-0.64;-0.64;-0.64	5.33	5.33	0.75918	Small GTP-binding protein domain (1);	0.060932	0.64402	D	0.000004	T	0.67325	0.2881	M	0.85542	2.76	0.80722	D	1	B	0.10296	0.003	B	0.25506	0.061	T	0.71251	-0.4648	10	0.62326	D	0.03	.	15.2735	0.73723	0.0:0.0:0.0:1.0	.	46	P62834	RAP1A_HUMAN	A	46	ENSP00000348786:V46A;ENSP00000396741:V46A;ENSP00000358723:V46A;ENSP00000394318:V46A;ENSP00000443009:V46A	ENSP00000348786:V46A	V	+	2	0	RAP1A	112041596	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.698000	0.84413	2.143000	0.66587	0.528000	0.53228	GTC		0.363	RAP1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033071.1	NM_002884		5	66	0	0	0	1	0	5	66					C	112240073	T	C	112240073	3	2	424	1	0	0	0	0	1	0	0	0	13035	1667	58	4	147	4	RAP1A	1	112240073	Missense_Mutation	SNP	T	TCGA-X4-A8KS-01A-12D-A364-08	64493644	112240073	137010548	2	20505											
LCE4A	199834	broad.mit.edu	37	chr1	152681746	152681746	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tgcctgagccaccacagacaCcataggtcccactgccacag	11	5	8	17	0	0	2	0	1	0	1	1	2	1	2	6	1	3	0	6	1	1	1			TCGA-X4-A8KS-01A-12D-A364-08	TCGA-X4-A8KS-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82e2c88f-f5dd-441d-8a01-80d89c3f693d	a1004109-c2d6-4bb6-8dc9-d41d46ba165a	g.chr1:152681746C>A	ENST00000368777.1	+	2	451	c.195C>A	c.(193-195)caC>caA	p.H65Q	LCE4A_ENST00000335535.3_Missense_Mutation_p.H65Q			Q5TA78	LCE4A_HUMAN	late cornified envelope 4A	65	Cys-rich.				keratinization (GO:0031424)					endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)	10	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.116)			ACCACAGACACCATAGGTCCC	0.622																																						ENST00000368777.1																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)	10						c.(193-195)caC>caA		late cornified envelope 4A							53	61	59					1																	152681746		2203	4300	6503	SO:0001583	missense	199834				keratinization			g.chr1:152681746C>A	BI670517	CCDS1022.1	1q22	2008-02-05	2004-10-11	2004-10-15	ENSG00000187170	ENSG00000187170		"Late cornified envelopes"	16613	protein-coding gene	gene with protein product		612618	"small proline rich-like (epidermal differentiation complex) 4A"	SPRL4A		11698679	Standard	NM_178356		Approved	LEP8	uc001fak.2	Q5TA78	OTTHUMG00000014394	ENST00000368777.1:c.195C>A	1.37:g.152681746C>A	ENSP00000357766:p.His65Gln					LCE4A_ENST00000335535.3_Missense_Mutation_p.H65Q	p.H65Q			Q5TA78	LCE4A_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.116)		2	451	+	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		65			Cys-rich.		Q14D97	Missense_Mutation	SNP	ENST00000368777.1	37	c.195C>A	CCDS1022.1	.	.	.	.	.	.	.	.	.	.	C	5.862	0.343264	0.11069	.	.	ENSG00000187170	ENST00000368777;ENST00000335535	T;T	0.03413	3.94;3.94	4.16	1.04	0.20106	.	.	.	.	.	T	0.00936	0.0031	.	.	.	0.09310	N	1	B	0.11235	0.004	B	0.06405	0.002	T	0.47947	-0.9077	8	0.87932	D	0	.	2.9891	0.05978	0.179:0.5423:0.1741:0.1046	.	65	Q5TA78	LCE4A_HUMAN	Q	65	ENSP00000357766:H65Q;ENSP00000335223:H65Q	ENSP00000335223:H65Q	H	+	3	2	LCE4A	150948370	0.002000	0.14202	0.003000	0.11579	0.062000	0.15995	0.320000	0.19540	0.188000	0.20168	0.313000	0.20887	CAC		0.622	LCE4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040048.1	NM_178356		6	54	1	0	0.00116845	1	0.0013145	6	54					A	152681746	C	A	152681746	3	1	424	1	0	0	0	0	1	0	0	0	8674	506	18	5	197	5	LCE4A	1	152681746	Missense_Mutation	SNP	C	TCGA-X4-A8KS-01A-12D-A364-08	40441673	152681746	96568875	3	20506											
BAT2L2	23215	broad.mit.edu	37	chr1	171493968	171493968	+	Frame_Shift_Del	DEL	A	A	-																															ttgatttttcagtgaggatcAaggttcaaaagcctctgaaa																										TCGA-X4-A8KS-01A-12D-A364-08	TCGA-X4-A8KS-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82e2c88f-f5dd-441d-8a01-80d89c3f693d	a1004109-c2d6-4bb6-8dc9-d41d46ba165a	g.chr1:171493968delA	ENST00000338920.4	+	10	1295	c.1058delA	c.(1057-1059)caafs	p.Q353fs	PRRC2C_ENST00000367742.3_Frame_Shift_Del_p.Q355fs|PRRC2C_ENST00000392078.3_Frame_Shift_Del_p.Q355fs|PRRC2C_ENST00000476522.1_3'UTR|PRRC2C_ENST00000426496.2_Frame_Shift_Del_p.Q353fs	NM_015172.3	NP_055987.2	Q9Y520	PRC2C_HUMAN	proline-rich coiled-coil 2C	353					hematopoietic progenitor cell differentiation (GO:0002244)	membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)										AGTGAGGATCAAGGTTCAAAA	0.328																																						ENST00000367742.3																			0											c.(1063-1065)cafs		proline-rich coiled-coil 2C							43	39	41					1																	171493968		2203	4298	6501	SO:0001589	frameshift_variant	23215						protein C-terminus binding	g.chr1:171493968delA	AL096857	CCDS1296.2	1q24.3	2012-07-18	2010-12-09	2010-12-09	ENSG00000117523	ENSG00000117523			24903	protein-coding gene	gene with protein product			"BAT2 domain containing 1", "HLA-B associated transcript 2-like 2"	BAT2D1, BAT2L2		10470851, 12443540	Standard	NM_015172		Approved	KIAA1096, XTP2	uc010pmg.2	Q9Y520	OTTHUMG00000034665	ENST00000338920.4:c.1058delA	1.37:g.171493968delA	ENSP00000343629:p.Gln353fs					PRRC2C_ENST00000338920.4_Frame_Shift_Del_p.Q353fs|PRRC2C_ENST00000392078.3_Frame_Shift_Del_p.Q355fs|PRRC2C_ENST00000476522.1_3'UTR|PRRC2C_ENST00000426496.2_Frame_Shift_Del_p.Q353fs	p.Q355fs			Q9Y520	PRC2C_HUMAN			10	1306	+			353					Q05DM8|Q49A39|Q6PD54|Q9H2N2|Q9HA05|Q9NSM8|Q9NXL3|Q9UF29|Q9UPQ6	Frame_Shift_Del	DEL	ENST00000338920.4	37	c.1064delA	CCDS1296.2																																																																																				0.328	PRRC2C-010	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000314826.4	NM_015172		2	4						2	4	---	---	---	---	-	171493968	A	-	171493968	7	5	424	1	0	1	0	1	0	0	0	0	1321	130	5	0	1092	0	BAT2L2	1	171493968	Frame_Shift_Del	DEL	A	TCGA-X4-A8KS-01A-12D-A364-08	18812222	171493968	77756653	4	20507											
SLC9A11	284525	broad.mit.edu	37	chr1	173542454	173542454	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttcatatacagatgaaaaaaTtcttaagaacctaggatgaa	19	11	6	5	0	2	4	1	2	1	2	2	5	2	5	1	1	2	0	1	1	9	6			TCGA-X4-A8KS-01A-12D-A364-08	TCGA-X4-A8KS-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82e2c88f-f5dd-441d-8a01-80d89c3f693d	a1004109-c2d6-4bb6-8dc9-d41d46ba165a	g.chr1:173542454T>A	ENST00000367714.3	-	9	1335	c.913A>T	c.(913-915)Att>Ttt	p.I305F	SLC9C2_ENST00000536496.1_Missense_Mutation_p.I203F|SLC9C2_ENST00000466087.1_5'UTR|RP3-436N22.3_ENST00000431459.1_RNA	NM_178527.3	NP_848622.2	Q5TAH2	SL9C2_HUMAN	solute carrier family 9, member C2 (putative)	305					sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)	solute:proton antiporter activity (GO:0015299)										GATGAAAAAATTCTTAAGAAC	0.269																																						ENST00000367714.3																			0											c.(913-915)Att>Ttt		solute carrier family 9, member C2 (putative)							34	35	35					1																	173542454		2200	4291	6491	SO:0001583	missense	284525				sodium ion transport	integral to membrane	ion channel activity|solute:hydrogen antiporter activity	g.chr1:173542454T>A	AK128104	CCDS1308.1	1q25.1	2013-07-18	2013-07-18	2012-03-22	ENSG00000162753	ENSG00000162753		"Solute carriers"	28664	protein-coding gene	gene with protein product			"solute carrier family 9, isoform 11", "solute carrier family 9, member 11", "solute carrier family 9, member C2"	SLC9A11			Standard	NM_178527		Approved	MGC43026	uc001giz.2	Q5TAH2	OTTHUMG00000034800	ENST00000367714.3:c.913A>T	1.37:g.173542454T>A	ENSP00000356687:p.Ile305Phe					SLC9C2_ENST00000536496.1_Missense_Mutation_p.I203F|RP3-436N22.3_ENST00000431459.1_RNA|SLC9C2_ENST00000466087.1_5'UTR	p.I305F	NM_178527.3	NP_848622.2	Q5TAH2	S9A11_HUMAN			9	1335	-			305					Q86UF3	Missense_Mutation	SNP	ENST00000367714.3	37	c.913A>T	CCDS1308.1	.	.	.	.	.	.	.	.	.	.	T	4.887	0.164927	0.09287	.	.	ENSG00000162753	ENST00000367714;ENST00000536496	T;T	0.06528	3.29;3.29	5.17	2.72	0.32119	Cation/H+ exchanger (1);	0.667115	0.14593	N	0.310103	T	0.00845	0.0028	N	0.03608	-0.345	0.09310	N	1	P	0.38677	0.642	B	0.40741	0.339	T	0.36939	-0.9727	10	0.13108	T	0.6	-12.9559	4.6731	0.12699	0.0:0.0988:0.1941:0.7071	.	305	Q5TAH2	S9A11_HUMAN	F	305;203	ENSP00000356687:I305F;ENSP00000445437:I203F	ENSP00000356687:I305F	I	-	1	0	SLC9A11	171809077	0.413000	0.25400	0.272000	0.24630	0.060000	0.15804	1.323000	0.33701	0.823000	0.34589	0.533000	0.62120	ATT		0.269	SLC9C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084205.1	NM_178527		6	47	0	0	0	1	0	6	47					A	173542454	T	A	173542454	3	1	424	1	0	0	0	0	1	0	0	0	14711	1493	52	5	2541	5	SLC9A11	1	173542454	Missense_Mutation	SNP	T	TCGA-X4-A8KS-01A-12D-A364-08	2048486	173542454	75708167	5	20508											
MSH2	4436	broad.mit.edu	37	chr2	47637343	47637343	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccgcagttgatggccagagAcaggttggagttgggtatgt	8	11	16	6	1	0	2	0	1	0	1	1	4	1	3	2	4	0	5	2	4	1	4			TCGA-X4-A8KS-01A-12D-A364-08	TCGA-X4-A8KS-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82e2c88f-f5dd-441d-8a01-80d89c3f693d	a1004109-c2d6-4bb6-8dc9-d41d46ba165a	g.chr2:47637343A>G	ENST00000233146.2	+	3	700	c.477A>G	c.(475-477)agA>agG	p.R159R	MSH2_ENST00000406134.1_Silent_p.R159R|MSH2_ENST00000543555.1_Silent_p.R93R	NM_000251.2	NP_000242.1	P43246	MSH2_HUMAN	mutS homolog 2	159					ATP catabolic process (GO:0006200)|B cell differentiation (GO:0030183)|B cell mediated immunity (GO:0019724)|cell cycle arrest (GO:0007050)|determination of adult lifespan (GO:0008340)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|germ cell development (GO:0007281)|in utero embryonic development (GO:0001701)|intra-S DNA damage checkpoint (GO:0031573)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|isotype switching (GO:0045190)|maintenance of DNA repeat elements (GO:0043570)|male gonad development (GO:0008584)|meiotic gene conversion (GO:0006311)|meiotic mismatch repair (GO:0000710)|mismatch repair (GO:0006298)|negative regulation of DNA recombination (GO:0045910)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of reciprocal meiotic recombination (GO:0045128)|oxidative phosphorylation (GO:0006119)|positive regulation of helicase activity (GO:0051096)|postreplication repair (GO:0006301)|response to UV-B (GO:0010224)|response to X-ray (GO:0010165)|somatic hypermutation of immunoglobulin genes (GO:0016446)|somatic recombination of immunoglobulin gene segments (GO:0016447)	membrane (GO:0016020)|MutSalpha complex (GO:0032301)|MutSbeta complex (GO:0032302)|nuclear chromosome (GO:0000228)	ATP binding (GO:0005524)|centromeric DNA binding (GO:0019237)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|double-strand/single-strand DNA junction binding (GO:0000406)|enzyme binding (GO:0019899)|guanine/thymine mispair binding (GO:0032137)|heteroduplex DNA loop binding (GO:0000404)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|Y-form DNA binding (GO:0000403)	p.0?(2)|p.?(1)		NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(5)|large_intestine(50)|lung(18)|ovary(5)|prostate(2)|skin(3)|small_intestine(1)|stomach(2)|urinary_tract(1)	112		all_hematologic(82;0.0359)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			ATGGCCAGAGACAGGTTGGAG	0.443			"D, Mis, N, F, S"		"colorectal, endometrial, ovarian"	"colorectal, endometrial, ovarian"		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome																													ENST00000406134.1			yes	Rec	yes	Hereditary non-polyposis colorectal cancer	2	2p22-p21	4436	"D, Mis, N, F, S"	mutS homolog 2 (E. coli)			E		"colorectal, endometrial, ovarian"	"colorectal, endometrial, ovarian"		3	Whole gene deletion(2)|Unknown(1)	p.0?(2)|p.?(1)	haematopoietic_and_lymphoid_tissue(3)	NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(5)|large_intestine(50)|lung(18)|ovary(5)|prostate(2)|skin(3)|small_intestine(1)|stomach(2)|urinary_tract(1)	112						c.(475-477)agA>agG	Mismatch excision repair (MMR)	mutS homolog 2							328	315	319					2																	47637343		2203	4300	6503	SO:0001819	synonymous_variant	4436	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome; ;Hereditary Non-Polyposis Colorectal Cancer, HNPCC, Lynch syndromes 1 and 2 (= Cancer Family Syndrome), Hereditary Mismatch Repair Deficiency syndrome, HMRDS;Mismatch Repair Cancer syndrome, MMRCS, Childhood Cancer Syndrome, CCS, Biallelic Mismatch Repair Gene Mutations Associated Early Onset Cancer, Lynch syndrome type III	B cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|double-strand break repair|intra-S DNA damage checkpoint|isotype switching|maintenance of DNA repeat elements|male gonad development|meiotic gene conversion|meiotic mismatch repair|negative regulation of neuron apoptosis|negative regulation of reciprocal meiotic recombination|positive regulation of helicase activity|postreplication repair|response to UV-B|response to X-ray|somatic hypermutation of immunoglobulin genes	MutSalpha complex|MutSbeta complex|nuclear chromosome	ATP binding|DNA-dependent ATPase activity|double-strand/single-strand DNA junction binding|guanine/thymine mispair binding|loop DNA binding|protein C-terminus binding|protein homodimerization activity|protein kinase binding|Y-form DNA binding	g.chr2:47637343A>G	U03911	CCDS1834.1, CCDS58709.1	2p21	2014-09-17	2013-09-12		ENSG00000095002	ENSG00000095002			7325	protein-coding gene	gene with protein product		609309	"mutS (E. coli) homolog 2 (colon cancer, nonpolyposis type 1)", "mutS homolog 2, colon cancer, nonpolyposis type 1 (E. coli)"	COCA1		8484120, 9843200	Standard	NM_000251		Approved	HNPCC, HNPCC1	uc002rvy.2	P43246	OTTHUMG00000128861	ENST00000233146.2:c.477A>G	2.37:g.47637343A>G						MSH2_ENST00000543555.1_Silent_p.R93R|MSH2_ENST00000233146.2_Silent_p.R159R	p.R159R			P43246	MSH2_HUMAN	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		3	539	+		all_hematologic(82;0.0359)|Acute lymphoblastic leukemia(82;0.175)	159					B4E2Z2|O75488	Silent	SNP	ENST00000233146.2	37	c.477A>G	CCDS1834.1	.	.	.	.	.	.	.	.	.	.	A	9.442	1.088252	0.20390	.	.	ENSG00000095002	ENST00000413880	.	.	.	5.73	-0.672	0.11377	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.9813	0.53121	0.5343:0.0:0.4657:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	MSH2	47490847	0.096000	0.21769	0.997000	0.53966	0.813000	0.45954	-0.361000	0.07612	-0.109000	0.12044	-0.982000	0.02568	.		0.443	MSH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250805.3			16	155	0	0	0	1	0	16	155					G	47637343	A	G	47637343	2	3	424	1	0	0	0	0	0	0	0	1	9870	272	10	4		4	MSH2	2	47637343	Silent	SNP	A	TCGA-X4-A8KS-01A-12D-A364-08		47637343	195562030	6	20509											
EHBP1	23301	broad.mit.edu	37	chr2	63175612	63175612	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aacagatacaaacagttctgTtgatcaagaaaaattctatg	18	11	6	6	0	3	3	1	1	2	2	3	3	3	3	0	0	3	2	0	0	7	5			TCGA-X4-A8KS-01A-12D-A364-08	TCGA-X4-A8KS-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82e2c88f-f5dd-441d-8a01-80d89c3f693d	a1004109-c2d6-4bb6-8dc9-d41d46ba165a	g.chr2:63175612T>C	ENST00000263991.5	+	14	2218	c.1736T>C	c.(1735-1737)gTt>gCt	p.V579A	EHBP1_ENST00000354487.3_Missense_Mutation_p.V544A|EHBP1_ENST00000405289.1_Missense_Mutation_p.V544A|EHBP1_ENST00000431489.1_Missense_Mutation_p.V544A|EHBP1_ENST00000405015.3_Missense_Mutation_p.V544A	NM_015252.3	NP_056067.2	Q8NDI1	EHBP1_HUMAN	EH domain binding protein 1	579						cytoplasm (GO:0005737)|membrane (GO:0016020)				biliary_tract(1)|breast(3)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(22)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	47	Lung NSC(7;0.0951)|all_lung(7;0.169)		LUSC - Lung squamous cell carcinoma(7;7.74e-05)|Epithelial(17;0.189)			AACAGTTCTGTTGATCAAGAA	0.403																																						ENST00000263991.5																			0				biliary_tract(1)|breast(3)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(22)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	47						c.(1735-1737)gTt>gCt		EH domain binding protein 1							67	67	67					2																	63175612		2203	4300	6503	SO:0001583	missense	23301					cytoplasm|membrane		g.chr2:63175612T>C	AL833968	CCDS1872.1, CCDS46299.1, CCDS46300.1	2p15	2008-02-05			ENSG00000115504	ENSG00000115504			29144	protein-coding gene	gene with protein product		609922				10048485	Standard	NM_015252		Approved	KIAA0903, NACSIN	uc002sby.3	Q8NDI1	OTTHUMG00000129453	ENST00000263991.5:c.1736T>C	2.37:g.63175612T>C	ENSP00000263991:p.Val579Ala					EHBP1_ENST00000405289.1_Missense_Mutation_p.V544A|EHBP1_ENST00000354487.3_Missense_Mutation_p.V544A|EHBP1_ENST00000405015.3_Missense_Mutation_p.V544A|EHBP1_ENST00000431489.1_Missense_Mutation_p.V544A	p.V579A	NM_015252.3	NP_056067.2	Q8NDI1	EHBP1_HUMAN	LUSC - Lung squamous cell carcinoma(7;7.74e-05)|Epithelial(17;0.189)		14	2218	+	Lung NSC(7;0.0951)|all_lung(7;0.169)		579					O94977|Q53TG7|Q53TV6|Q580X2|Q6NX72|Q6PIT3|Q6QNV2|Q9NWI9	Missense_Mutation	SNP	ENST00000263991.5	37	c.1736T>C	CCDS1872.1	.	.	.	.	.	.	.	.	.	.	T	14.82	2.648157	0.47258	.	.	ENSG00000115504	ENST00000405015;ENST00000431489;ENST00000263991;ENST00000354487;ENST00000405289	T;T;T;T;T	0.74947	-0.89;-0.89;-0.86;-0.88;-0.88	5.73	5.73	0.89815	.	0.144254	0.44285	D	0.000463	T	0.58878	0.2153	N	0.08118	0	0.46149	D	0.99889	P;P;B	0.37663	0.566;0.604;0.431	B;B;B	0.40285	0.325;0.183;0.174	T	0.59710	-0.7403	10	0.18276	T	0.48	.	16.0152	0.80434	0.0:0.0:0.0:1.0	.	544;544;579	Q8NDI1-2;Q8NDI1-3;Q8NDI1	.;.;EHBP1_HUMAN	A	544;544;579;544;544	ENSP00000384143:V544A;ENSP00000403783:V544A;ENSP00000263991:V579A;ENSP00000346482:V544A;ENSP00000385524:V544A	ENSP00000263991:V579A	V	+	2	0	EHBP1	63029116	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.586000	0.82596	2.180000	0.69256	0.533000	0.62120	GTT		0.403	EHBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251616.1	NM_015252		5	54	0	0	0	1	0	5	54					C	63175612	T	C	63175612	3	2	424	1	0	0	0	0	1	0	0	0	4975	1725	60	4	1786	4	EHBP1	2	63175612	Missense_Mutation	SNP	T	TCGA-X4-A8KS-01A-12D-A364-08	15538269	63175612	180023761	7	20510											
DFNB59	494513	broad.mit.edu	37	chr2	179320876	179320876	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gaattcgaggggaagcaatgCgggtaaaccacacttgttgg	12	8	14	7	2	0	0	0	0	0	0	1	3	0	1	1	4	3	3	1	4	5	4	rs111706634	byFrequency	TCGA-X4-A8KS-01A-12D-A364-08	TCGA-X4-A8KS-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82e2c88f-f5dd-441d-8a01-80d89c3f693d	a1004109-c2d6-4bb6-8dc9-d41d46ba165a	g.chr2:179320876C>T	ENST00000409117.3	+	4	903	c.547C>T	c.(547-549)Cgg>Tgg	p.R183W	DFNB59_ENST00000605419.1_3'UTR|DFNB59_ENST00000375129.4_Missense_Mutation_p.R183W	NM_001042702.3	NP_001036167.1	Q0ZLH3	PJVK_HUMAN	deafness, autosomal recessive 59	183			R -> W (in DFNB59). {ECO:0000269|PubMed:16804542}.		sensory perception of sound (GO:0007605)	neuronal cell body (GO:0043025)				breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(117;0.00406)|Epithelial(96;0.0159)|all cancers(119;0.0564)			GGAAGCAATGCGGGTAAACCA	0.443																																						ENST00000409117.3																			0				breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(1)	18	GRCh37	CM062580	DFNB59	M	rs111706634	c.(547-549)Cgg>Tgg		deafness, autosomal recessive 59							56	56	56					2																	179320876		1976	4157	6133	SO:0001583	missense	494513				sensory perception of sound			g.chr2:179320876C>T	BC020859, BQ887979	CCDS42787.1	2q31.2	2011-07-01			ENSG00000204311	ENSG00000204311			29502	protein-coding gene	gene with protein product		610219				16804542	Standard	NM_001042702		Approved	pejvakin	uc002umi.4	Q0ZLH3	OTTHUMG00000154425	ENST00000409117.3:c.547C>T	2.37:g.179320876C>T	ENSP00000386647:p.Arg183Trp					DFNB59_ENST00000375129.4_Missense_Mutation_p.R183W|DFNB59_ENST00000605419.1_3'UTR	p.R183W	NM_001042702.3	NP_001036167.1	Q0ZLH3	PJVK_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00406)|Epithelial(96;0.0159)|all cancers(119;0.0564)		4	903	+			183		R -> W (in DFNB59).			A0PK14|B9EJE2	Missense_Mutation	SNP	ENST00000409117.3	37	c.547C>T	CCDS42787.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.8|20.8	4.052782|4.052782	0.75960|0.75960	.|.	.|.	ENSG00000204311|ENSG00000204311	ENST00000442710|ENST00000409117;ENST00000375129	.|T;T	.|0.21932	.|1.98;1.98	5.66|5.66	-0.636|-0.636	0.11508|0.11508	.|.	.|0.000000	.|0.31358	.|U	.|0.007790	T|T	0.36110|0.36110	0.0955|0.0955	L|L	0.44542|0.44542	1.39|1.39	0.53005|0.53005	D|D	0.99996|0.99996	.|D	.|0.89917	.|1.0	.|D	.|0.78314	.|0.991	T|T	0.17623|0.17623	-1.0363|-1.0363	5|10	.|0.49607	.|T	.|0.09	-35.3678|-35.3678	17.3259|17.3259	0.87246|0.87246	0.6828:0.3172:0.0:0.0|0.6828:0.3172:0.0:0.0	.|.	.|183	.|Q0ZLH3	.|PJVK_HUMAN	V|W	130|183	.|ENSP00000386647:R183W;ENSP00000364271:R183W	.|ENSP00000364271:R183W	A|R	+|+	2|1	0|2	DFNB59|DFNB59	179029122|179029122	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.986000|0.986000	0.74619|0.74619	1.430000|1.430000	0.34914|0.34914	0.066000|0.066000	0.16515|0.16515	-0.122000|-0.122000	0.15005|0.15005	GCG|CGG		0.443	DFNB59-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335160.1			3	22	0	0	0	1	0	3	22					T	179320876	C	T	179320876	3	4	424	1	0	0	0	0	1	0	0	0	4456	759	27	1	557	1	DFNB59	2	179320876	Missense_Mutation	SNP	C	TCGA-X4-A8KS-01A-12D-A364-08	116145264	179320876	63878497	8	20511											
FAM171B	165215	broad.mit.edu	37	chr2	187626300	187626300	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttcaacaacacacataaatCatatcagtacagttaaagtt	18	11	3	9	0	3	0	3	0	0	0	3	0	3	0	0	0	3	3	0	0	8	6			TCGA-X4-A8KS-01A-12D-A364-08	TCGA-X4-A8KS-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82e2c88f-f5dd-441d-8a01-80d89c3f693d	a1004109-c2d6-4bb6-8dc9-d41d46ba165a	g.chr2:187626300C>A	ENST00000304698.5	+	8	1434	c.1231C>A	c.(1231-1233)Cat>Aat	p.H411N		NM_177454.3	NP_803237.3	Q6P995	F171B_HUMAN	family with sequence similarity 171, member B	411						integral component of membrane (GO:0016021)	DNA binding (GO:0003677)			NS(1)|breast(6)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(22)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						ACACATAAATCATATCAGTAC	0.383																																						ENST00000304698.5																			0				NS(1)|breast(6)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(22)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						c.(1231-1233)Cat>Aat		family with sequence similarity 171, member B							128	137	134					2																	187626300		2203	4298	6501	SO:0001583	missense	165215					integral to membrane	DNA binding	g.chr2:187626300C>A	AF361495	CCDS33347.1	2q32.2	2008-06-16	2008-06-16	2008-06-16	ENSG00000144369	ENSG00000144369			29412	protein-coding gene	gene with protein product			"KIAA1946"	KIAA1946		11853319	Standard	NM_177454		Approved	FLJ34104	uc002ups.3	Q6P995	OTTHUMG00000154278	ENST00000304698.5:c.1231C>A	2.37:g.187626300C>A	ENSP00000304108:p.His411Asn						p.H411N	NM_177454.3	NP_803237.3	Q6P995	F171B_HUMAN			8	1434	+			411					Q53SK3|Q8N1Y4|Q8N3K1|Q8N970|Q8NB81|Q8TF55|Q8WYR8	Missense_Mutation	SNP	ENST00000304698.5	37	c.1231C>A	CCDS33347.1	.	.	.	.	.	.	.	.	.	.	C	19.32	3.804377	0.70682	.	.	ENSG00000144369	ENST00000304698;ENST00000272804	T	0.30714	1.52	5.93	5.93	0.95920	.	0.252421	0.41396	D	0.000888	T	0.48786	0.1519	L	0.44542	1.39	0.44201	D	0.997029	D;D	0.69078	0.997;0.997	D;D	0.66602	0.945;0.945	T	0.36696	-0.9737	10	0.62326	D	0.03	-16.6784	18.5173	0.90939	0.0:1.0:0.0:0.0	.	411;412	Q6P995;A8K122	F171B_HUMAN;.	N	411	ENSP00000304108:H411N	ENSP00000272804:H411N	H	+	1	0	FAM171B	187334545	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.041000	0.57339	2.805000	0.96524	0.655000	0.94253	CAT		0.383	FAM171B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334679.1	NM_177454		12	96	1	0	0.0167234	1	0.0175012	12	96					A	187626300	C	A	187626300	3	1	424	1	0	0	0	0	1	0	0	0	5491	826	29	5	1261	5	FAM171B	2	187626300	Missense_Mutation	SNP	C	TCGA-X4-A8KS-01A-12D-A364-08	8305424	187626300	55573073	9	20512											
SLC4A7	9497	broad.mit.edu	37	chr3	27453211	27453211	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccagtgtgggggtagatccaTtgtgaaacacaggaatcttt	11	11	12	7	0	1	2	0	1	1	1	2	3	2	3	2	3	1	1	2	3	3	3	rs370056312		TCGA-X4-A8KS-01A-12D-A364-08	TCGA-X4-A8KS-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82e2c88f-f5dd-441d-8a01-80d89c3f693d	a1004109-c2d6-4bb6-8dc9-d41d46ba165a	g.chr3:27453211T>C	ENST00000295736.5	-	12	1731	c.1661A>G	c.(1660-1662)aAt>aGt	p.N554S	SLC4A7_ENST00000425128.2_Missense_Mutation_p.N546S|SLC4A7_ENST00000437179.1_Missense_Mutation_p.N435S|SLC4A7_ENST00000388777.4_Missense_Mutation_p.N104S|SLC4A7_ENST00000440156.1_Missense_Mutation_p.N550S|SLC4A7_ENST00000435667.2_Missense_Mutation_p.N439S|SLC4A7_ENST00000445684.1_Missense_Mutation_p.N550S|SLC4A7_ENST00000446700.1_Missense_Mutation_p.N546S|SLC4A7_ENST00000455077.1_Missense_Mutation_p.N435S|SLC4A7_ENST00000428386.1_Missense_Mutation_p.N430S|SLC4A7_ENST00000454389.1_Missense_Mutation_p.N563S	NM_003615.4	NP_003606.3	Q9Y6M7	S4A7_HUMAN	solute carrier family 4, sodium bicarbonate cotransporter, member 7	554					auditory receptor cell development (GO:0060117)|bicarbonate transport (GO:0015701)|cochlear nucleus development (GO:0021747)|ion transport (GO:0006811)|retina vasculature morphogenesis in camera-type eye (GO:0061299)|retinal cell programmed cell death (GO:0046666)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|cell projection (GO:0042995)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|sodium:bicarbonate symporter activity (GO:0008510)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(9)|ovary(4)|skin(1)	38					Sodium bicarbonate(DB01390)	GGTAGATCCATTGTGAAACAC	0.413																																						ENST00000295736.5																			0				NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(9)|ovary(4)|skin(1)	38						c.(1660-1662)aAt>aGt		solute carrier family 4, sodium bicarbonate cotransporter, member 7		T	SER/ASN	0,4406		0,0,2203	57	59	58		1661	5.4	1	3		58	1,8599	1.2+/-3.3	0,1,4299	no	missense	SLC4A7	NM_003615.3	46	0,1,6502	CC,CT,TT		0.0116,0.0,0.0077	probably-damaging	554/1215	27453211	1,13005	2203	4300	6503	SO:0001583	missense	9497					apical plasma membrane|basolateral plasma membrane|integral to membrane|stereocilium	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity	g.chr3:27453211T>C	AB012130	CCDS33721.1, CCDS58819.1, CCDS58820.1	3p24.1	2013-05-22			ENSG00000033867	ENSG00000033867		"Solute carriers"	11033	protein-coding gene	gene with protein product		603353		SLC4A6		10198178, 9610397	Standard	NM_003615		Approved	NBC3, SBC2	uc003cdv.4	Q9Y6M7	OTTHUMG00000155679	ENST00000295736.5:c.1661A>G	3.37:g.27453211T>C	ENSP00000295736:p.Asn554Ser					SLC4A7_ENST00000455077.1_Missense_Mutation_p.N435S|SLC4A7_ENST00000440156.1_Missense_Mutation_p.N550S|SLC4A7_ENST00000437179.1_Missense_Mutation_p.N435S|SLC4A7_ENST00000388777.4_Missense_Mutation_p.N104S|SLC4A7_ENST00000435667.2_Missense_Mutation_p.N439S|SLC4A7_ENST00000428386.1_Missense_Mutation_p.N430S|SLC4A7_ENST00000425128.2_Missense_Mutation_p.N546S|SLC4A7_ENST00000445684.1_Missense_Mutation_p.N550S|SLC4A7_ENST00000454389.1_Missense_Mutation_p.N563S|SLC4A7_ENST00000446700.1_Missense_Mutation_p.N546S	p.N554S	NM_003615.4	NP_003606.3	Q9Y6M7	S4A7_HUMAN			12	1731	-			554					A6NIA8|B2CI53|B5M449|B5M451|B5M452|B5M453|B6DY52|B6DY53|C9JST9|D3K174|D3K175|O60350|Q6AHZ9|Q9HC88|Q9UIB9	Missense_Mutation	SNP	ENST00000295736.5	37	c.1661A>G	CCDS33721.1	.	.	.	.	.	.	.	.	.	.	T	15.55	2.867078	0.51588	0.0	1.16E-4	ENSG00000033867	ENST00000419036;ENST00000295736;ENST00000428386;ENST00000454389;ENST00000440156;ENST00000437179;ENST00000446700;ENST00000455077;ENST00000445684;ENST00000435667;ENST00000388777;ENST00000425128;ENST00000428179	T;T;T;T;T;T;T;T;T;T;T;T;T	0.80393	-1.36;-1.06;-1.11;-1.07;-1.15;-1.11;-1.14;-1.11;-1.14;-1.11;-1.37;0.24;-1.1	5.43	5.43	0.79202	Bicarbonate transporter, cytoplasmic (1);	0.000000	0.85682	D	0.000000	D	0.87321	0.6148	M	0.73598	2.24	0.41352	D	0.987372	D;D;D;D;D;D;D;D;D	0.61080	0.985;0.977;0.985;0.976;0.985;0.963;0.987;0.985;0.989	P;P;P;P;P;P;D;P;D	0.67548	0.867;0.887;0.867;0.695;0.867;0.883;0.947;0.867;0.952	D	0.84750	0.0756	10	0.11182	T	0.66	.	15.7674	0.78138	0.0:0.0:0.0:1.0	.	550;435;546;550;563;104;430;554;435	E9PFN4;B5M452;E9PGC1;B5M453;E9PDL9;F8W7E6;Q9Y6M7-2;Q9Y6M7;B2CI53	.;.;.;.;.;.;.;S4A7_HUMAN;.	S	105;554;430;563;550;435;546;435;550;439;104;546;450	ENSP00000411031:N105S;ENSP00000295736:N554S;ENSP00000416368:N430S;ENSP00000390394:N563S;ENSP00000414797:N550S;ENSP00000394252:N435S;ENSP00000406605:N546S;ENSP00000407382:N435S;ENSP00000406804:N550S;ENSP00000395336:N439S;ENSP00000373429:N104S;ENSP00000401949:N546S;ENSP00000388703:N450S	ENSP00000295736:N554S	N	-	2	0	SLC4A7	27428215	1.000000	0.71417	1.000000	0.80357	0.709000	0.40893	7.499000	0.81566	2.179000	0.69175	0.533000	0.62120	AAT		0.413	SLC4A7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000341230.2	NM_003615		6	20	0	0	0	1	0	6	20					C	27453211	T	C	27453211	3	2	424	1	0	0	0	0	1	0	0	0	14658	1493	52	4	2039	4	SLC4A7	3	27453211	Missense_Mutation	SNP	T	TCGA-X4-A8KS-01A-12D-A364-08		27453211	170569219	10	20513											
FYCO1	79443	broad.mit.edu	37	chr3	46009701	46009701	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccgtatctgccttctgctgAgccatggctagccagcctgg	5	10	12	14	1	2	1	0	1	2	0	2	1	2	1	5	2	5	3	5	2	2	3			TCGA-X4-A8KS-01A-12D-A364-08	TCGA-X4-A8KS-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82e2c88f-f5dd-441d-8a01-80d89c3f693d	a1004109-c2d6-4bb6-8dc9-d41d46ba165a	g.chr3:46009701A>G	ENST00000296137.2	-	8	1330	c.1125T>C	c.(1123-1125)gcT>gcC	p.A375A	FYCO1_ENST00000535325.1_Silent_p.A375A	NM_024513.3	NP_078789.2	Q9BQS8	FYCO1_HUMAN	FYVE and coiled-coil domain containing 1	375					plus-end-directed vesicle transport along microtubule (GO:0072383)	autophagic vacuole (GO:0005776)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)	metal ion binding (GO:0046872)			NS(4)|breast(3)|central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(17)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	54				BRCA - Breast invasive adenocarcinoma(193;0.00147)|KIRC - Kidney renal clear cell carcinoma(197;0.0272)|Kidney(197;0.0323)		CCTTCTGCTGAGCCATGGCTA	0.577																																						ENST00000296137.2																			0				NS(4)|breast(3)|central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(17)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	54						c.(1123-1125)gcT>gcC		FYVE and coiled-coil domain containing 1							116	120	119					3																	46009701		2203	4300	6503	SO:0001819	synonymous_variant	79443				transport	integral to membrane	metal ion binding|protein binding	g.chr3:46009701A>G	AJ292348	CCDS2734.1	3p21.3	2008-02-05			ENSG00000163820	ENSG00000163820		"Zinc fingers, FYVE domain containing"	14673	protein-coding gene	gene with protein product		607182				11896456	Standard	NM_024513		Approved	FLJ13335, ZFYVE7	uc003cpb.5	Q9BQS8	OTTHUMG00000133447	ENST00000296137.2:c.1125T>C	3.37:g.46009701A>G						FYCO1_ENST00000535325.1_Silent_p.A375A	p.A375A	NM_024513.3	NP_078789.2	Q9BQS8	FYCO1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00147)|KIRC - Kidney renal clear cell carcinoma(197;0.0272)|Kidney(197;0.0323)	8	1330	-			375					B7ZKT7|Q3MJE6|Q86T41|Q86TB1|Q8TEF9|Q96IV5|Q9H8P9	Silent	SNP	ENST00000296137.2	37	c.1125T>C	CCDS2734.1																																																																																				0.577	FYCO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257320.2	NM_024513		5	115	0	0	0	1	0	5	115					G	46009701	A	G	46009701	2	3	424	1	0	0	0	0	0	0	0	1	6125	291	11	4		4	FYCO1	3	46009701	Silent	SNP	A	TCGA-X4-A8KS-01A-12D-A364-08	18556490	46009701	152012729	11	20514											
ITGA2	3673	broad.mit.edu	37	chr5	52360743	52360743	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tttgtttcccctttgcaaggGcattttgggtcagcaccaat	7	15	9	10	0	1	0	1	0	0	0	2	0	2	0	3	2	2	4	3	2	2	5	rs367831030		TCGA-X4-A8KS-01A-12D-A364-08	TCGA-X4-A8KS-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82e2c88f-f5dd-441d-8a01-80d89c3f693d	a1004109-c2d6-4bb6-8dc9-d41d46ba165a	g.chr5:52360743G>A	ENST00000296585.5	+	14	1747	c.1604G>A	c.(1603-1605)gGc>gAc	p.G535D		NM_002203.3	NP_002194.2	P17301	ITA2_HUMAN	integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor)	535					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell adhesion mediated by integrin (GO:0033627)|cell proliferation (GO:0008283)|cell-matrix adhesion (GO:0007160)|cell-substrate adhesion (GO:0031589)|cellular response to hormone stimulus (GO:0032870)|collagen-activated signaling pathway (GO:0038065)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|hepatocyte differentiation (GO:0070365)|hypotonic response (GO:0006971)|integrin-mediated signaling pathway (GO:0007229)|mammary gland development (GO:0030879)|mesodermal cell differentiation (GO:0048333)|organ morphogenesis (GO:0009887)|positive regulation of alkaline phosphatase activity (GO:0010694)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell projection organization (GO:0031346)|positive regulation of collagen binding (GO:0033343)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of DNA binding (GO:0043388)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of inflammatory response (GO:0050729)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of phagocytosis, engulfment (GO:0060100)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of smooth muscle cell migration (GO:0014911)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of translation (GO:0045727)|positive regulation of transmission of nerve impulse (GO:0051971)|response to amine (GO:0014075)|response to drug (GO:0042493)|response to hypoxia (GO:0001666)|response to L-ascorbic acid (GO:0033591)|response to muscle activity (GO:0014850)|response to organic cyclic compound (GO:0014070)|skin morphogenesis (GO:0043589)|substrate-dependent cell migration (GO:0006929)|tissue homeostasis (GO:0001894)|viral process (GO:0016032)	axon terminus (GO:0043679)|basal part of cell (GO:0045178)|cell outer membrane (GO:0009279)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|focal adhesion (GO:0005925)|integrin alpha2-beta1 complex (GO:0034666)|integrin complex (GO:0008305)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	collagen binding (GO:0005518)|collagen binding involved in cell-matrix adhesion (GO:0098639)|collagen receptor activity (GO:0038064)|metal ion binding (GO:0046872)|virus receptor activity (GO:0001618)			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(1)|lung(18)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	47		Lung NSC(810;3.11e-05)|Breast(144;0.014)|Prostate(461;0.0181)				CTTTGCAAGGGCATTTTGGGT	0.448																																						ENST00000296585.5																			0				breast(3)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(1)|lung(18)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	47						c.e14-1		integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor)							103	107	106					5																	52360743		2203	4300	6503	SO:0001630	splice_region_variant	3673				axon guidance|blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|organ morphogenesis	integrin complex	collagen binding|identical protein binding|receptor activity	g.chr5:52360743G>A		CCDS3957.1	5q11.2	2010-03-23			ENSG00000164171	ENSG00000164171		"CD molecules", "Integrins"	6137	protein-coding gene	gene with protein product		192974		CD49B			Standard	NM_002203		Approved	CD49b	uc003joy.3	P17301	OTTHUMG00000131165	ENST00000296585.5:c.1603-1G>A	5.37:g.52360743G>A							p.G535_splice	NM_002203.3	NP_002194.2	P17301	ITA2_HUMAN			14	1747	+		Lung NSC(810;3.11e-05)|Breast(144;0.014)|Prostate(461;0.0181)	535					Q14595	Splice_Site	SNP	ENST00000296585.5	37	c.1602_splice	CCDS3957.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.191503	0.78902	.	.	ENSG00000164171	ENST00000296585	T	0.03441	3.93	5.67	5.67	0.87782	.	0.048698	0.85682	D	0.000000	T	0.13884	0.0336	M	0.66506	2.035	0.80722	D	1	P;D	0.61697	0.57;0.99	B;P	0.57101	0.342;0.813	T	0.00068	-1.2140	10	0.45353	T	0.12	.	18.3222	0.90242	0.0:0.0:1.0:0.0	.	535;535	E7ESP4;P17301	.;ITA2_HUMAN	D	535	ENSP00000296585:G535D	ENSP00000296585:G535D	G	+	2	0	ITGA2	52396500	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	7.160000	0.77495	2.836000	0.97738	0.655000	0.94253	GGC		0.448	ITGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253857.2	NM_002203	Missense_Mutation	6	61	0	0	0	1	0	6	61					A	52360743	G	A	52360743	5	1	424	1	0	0	0	0	0	0	1	0	7875	1217	42	3	1658	3	ITGA2	5	52360743	Splice_Site	SNP	G	TCGA-X4-A8KS-01A-12D-A364-08		52360743	128554517	12	20515											
PCDHB7	56129	broad.mit.edu	37	chr5	140554081	140554081	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtgctggtgctggacgccaaCgacaactcgcccttcgtgct	6	9	12	14	4	0	0	0	0	0	0	2	2	0	1	2	2	5	3	2	2	2	1			TCGA-X4-A8KS-01A-12D-A364-08	TCGA-X4-A8KS-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82e2c88f-f5dd-441d-8a01-80d89c3f693d	a1004109-c2d6-4bb6-8dc9-d41d46ba165a	g.chr5:140554081C>A	ENST00000231137.3	+	1	1839	c.1665C>A	c.(1663-1665)aaC>aaA	p.N555K		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN	protocadherin beta 7	555	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGGACGCCAACGACAACTCGC	0.726																																						ENST00000231137.3																			0				NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						c.(1663-1665)aaC>aaA									28	32	31					5																	140554081		2192	4283	6475	SO:0001583	missense	0				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140554081C>A	AF152500	CCDS4249.1	5q31	2010-01-26			ENSG00000113212	ENSG00000113212		"Cadherins / Protocadherins : Clustered"	8692	other	protocadherin		606333				10380929	Standard	NM_018940		Approved	PCDH-BETA7	uc003lit.3	Q9Y5E2	OTTHUMG00000129608	ENST00000231137.3:c.1665C>A	5.37:g.140554081C>A	ENSP00000231137:p.Asn555Lys						p.N555K	NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1839	+			555			Cadherin 5.		A1L3Y8	Missense_Mutation	SNP	ENST00000231137.3	37	c.1665C>A	CCDS4249.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	17.05|17.05	3.291169|3.291169	0.59976|0.59976	.|.	.|.	ENSG00000113212|ENSG00000113212	ENST00000231137|ENST00000543636	T|.	0.01745|.	4.66|.	4.3|4.3	0.795|0.795	0.18643|0.18643	Cadherin (4);Cadherin conserved site (1);Cadherin-like (1);|.	.|.	.|.	.|.	.|.	D|D	0.85579|0.85579	0.5729|0.5729	H|H	0.98833|0.98833	4.345|4.345	0.38258|0.38258	D|D	0.941809|0.941809	D|.	0.89917|.	1.0|.	D|.	0.76575|.	0.988|.	D|D	0.83921|0.83921	0.0301|0.0301	9|5	0.87932|.	D|.	0|.	.|.	5.9973|5.9973	0.19501|0.19501	0.0:0.3365:0.0:0.6635|0.0:0.3365:0.0:0.6635	.|.	555|.	Q9Y5E2|.	PCDB7_HUMAN|.	K|K	555|338	ENSP00000231137:N555K|.	ENSP00000231137:N555K|.	N|T	+|+	3|2	2|0	PCDHB7|PCDHB7	140534265|140534265	0.000000|0.000000	0.05858|0.05858	0.992000|0.992000	0.48379|0.48379	0.966000|0.966000	0.64601|0.64601	-2.009000|-2.009000	0.01455|0.01455	0.355000|0.355000	0.24131|0.24131	0.449000|0.449000	0.29647|0.29647	AAC|ACG		0.726	PCDHB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251803.2	NM_018940		9	49	1	0	0.00621372	1	0.00681993	9	49					A	140554081	C	A	140554081	3	1	424	1	0	0	0	0	1	0	0	0	11547	535	19	5	1667	5	PCDHB7	5	140554081	Missense_Mutation	SNP	C	TCGA-X4-A8KS-01A-12D-A364-08	88193338	140554081	40361179	13	20516											
COL19A1	1310	broad.mit.edu	37	chr6	70639450	70639450	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tcgtcagtggcacaaacttgGcattagtatacaatcccagg	12	10	9	10	1	1	0	1	0	0	0	3	0	2	0	1	3	2	3	1	3	5	4			TCGA-X4-A8KS-01A-12D-A364-08	TCGA-X4-A8KS-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82e2c88f-f5dd-441d-8a01-80d89c3f693d	a1004109-c2d6-4bb6-8dc9-d41d46ba165a	g.chr6:70639450G>C	ENST00000322773.4	+	6	626	c.524G>C	c.(523-525)gGc>gCc	p.G175A		NM_001858.4	NP_001849.2	Q14993	COJA1_HUMAN	collagen, type XIX, alpha 1	175	Laminin G-like.				cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|single organismal cell-cell adhesion (GO:0016337)|skeletal muscle tissue development (GO:0007519)|skeletal system development (GO:0001501)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|protein binding, bridging (GO:0030674)			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						CACAAACTTGGCATTAGTATA	0.408																																						ENST00000322773.4																			0				breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						c.(523-525)gGc>gCc		collagen, type XIX, alpha 1							125	119	121					6																	70639450		2203	4300	6503	SO:0001583	missense	1310				cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development	collagen	extracellular matrix structural constituent|protein binding, bridging	g.chr6:70639450G>C		CCDS4970.1	6q12-q13	2013-01-16			ENSG00000082293	ENSG00000082293		"Collagens"	2196	protein-coding gene	gene with protein product		120165				7916703, 9143499	Standard	NM_001858		Approved		uc003pfc.1	Q14993	OTTHUMG00000014987	ENST00000322773.4:c.524G>C	6.37:g.70639450G>C	ENSP00000316030:p.Gly175Ala						p.G175A	NM_001858.4	NP_001849.2	Q14993	COJA1_HUMAN			6	626	+			175			TSP N-terminal.		Q00559|Q05850|Q12885|Q13676|Q14DH1|Q5JUF0|Q5T424|Q9H572|Q9NPZ2|Q9NQP2	Missense_Mutation	SNP	ENST00000322773.4	37	c.524G>C	CCDS4970.1	.	.	.	.	.	.	.	.	.	.	G	13.01	2.109695	0.37242	.	.	ENSG00000082293	ENST00000322773	T	0.01538	4.79	5.52	5.52	0.82312	Concanavalin A-like lectin/glucanase (1);Laminin G, thrombospondin-type, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.01627	0.0052	L	0.31752	0.955	0.80722	D	1	D	0.67145	0.996	P	0.57283	0.817	T	0.56998	-0.7886	10	0.05525	T	0.97	.	19.4456	0.94845	0.0:0.0:1.0:0.0	.	175	Q14993	COJA1_HUMAN	A	175	ENSP00000316030:G175A	ENSP00000316030:G175A	G	+	2	0	COL19A1	70696171	1.000000	0.71417	1.000000	0.80357	0.533000	0.34776	7.345000	0.79337	2.592000	0.87571	0.467000	0.42956	GGC		0.408	COL19A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041127.1			7	55	0	0	0	1	0	7	55					C	70639450	G	C	70639450	3	2	424	1	0	0	0	0	1	0	0	0	3676	1203	42	5	542	5	COL19A1	6	70639450	Missense_Mutation	SNP	G	TCGA-X4-A8KS-01A-12D-A364-08		70639450	100475617	14	20517											
SEMA3C	10512	broad.mit.edu	37	chr7	80418784	80418784	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atggttccgaataaaagtgaCaacatcatctgggaactcct	14	10	8	9	1	2	1	1	1	1	0	4	3	4	2	2	2	2	1	2	2	5	2			TCGA-X4-A8KS-01A-12D-A364-08	TCGA-X4-A8KS-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82e2c88f-f5dd-441d-8a01-80d89c3f693d	a1004109-c2d6-4bb6-8dc9-d41d46ba165a	g.chr7:80418784C>G	ENST00000265361.3	-	12	1753	c.1192G>C	c.(1192-1194)Gtc>Ctc	p.V398L	SEMA3C_ENST00000419255.2_Missense_Mutation_p.V398L|SEMA3C_ENST00000544525.1_Missense_Mutation_p.V416L	NM_006379.3	NP_006370.1	Q99985	SEM3C_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3C	398	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|blood vessel remodeling (GO:0001974)|cardiac right ventricle morphogenesis (GO:0003215)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|immune response (GO:0006955)|limb bud formation (GO:0060174)|neural crest cell migration (GO:0001755)|neural tube development (GO:0021915)|outflow tract morphogenesis (GO:0003151)|post-embryonic development (GO:0009791)|pulmonary myocardium development (GO:0003350)|response to drug (GO:0042493)|somitogenesis (GO:0001756)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	receptor activity (GO:0004872)			NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						ATAAAAGTGACAACATCATCT	0.388																																						ENST00000265361.3																			0				NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						c.(1192-1194)Gtc>Ctc		sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3C							134	123	126					7																	80418784		2203	4300	6503	SO:0001583	missense	10512				immune response|response to drug	membrane	receptor activity	g.chr7:80418784C>G	AB000220	CCDS5596.1	7q21-q31	2013-01-11			ENSG00000075223	ENSG00000075223		"Semaphorins", "Immunoglobulin superfamily / I-set domain containing"	10725	protein-coding gene	gene with protein product		602645		SEMAE		7748561, 9168980	Standard	NM_006379		Approved	SemE	uc003uhj.3	Q99985	OTTHUMG00000023447	ENST00000265361.3:c.1192G>C	7.37:g.80418784C>G	ENSP00000265361:p.Val398Leu					SEMA3C_ENST00000544525.1_Missense_Mutation_p.V416L|SEMA3C_ENST00000419255.2_Missense_Mutation_p.V398L	p.V398L	NM_006379.3	NP_006370.1	Q99985	SEM3C_HUMAN			12	1753	-			398			Sema.		B4DRL8	Missense_Mutation	SNP	ENST00000265361.3	37	c.1192G>C	CCDS5596.1	.	.	.	.	.	.	.	.	.	.	C	26.4	4.735883	0.89482	.	.	ENSG00000075223	ENST00000265361;ENST00000419255;ENST00000544525	T;T;T	0.15952	2.38;2.38;2.38	5.81	5.81	0.92471	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.000000	0.85682	D	0.000000	T	0.13543	0.0328	N	0.16016	0.355	0.80722	D	1	P;P	0.39022	0.603;0.655	B;B	0.43018	0.283;0.405	T	0.01829	-1.1265	10	0.02654	T	1	.	20.0755	0.97742	0.0:1.0:0.0:0.0	.	416;398	F5H1Z7;Q99985	.;SEM3C_HUMAN	L	398;398;416	ENSP00000265361:V398L;ENSP00000411193:V398L;ENSP00000445649:V416L	ENSP00000265361:V398L	V	-	1	0	SEMA3C	80256720	1.000000	0.71417	0.998000	0.56505	0.989000	0.77384	7.818000	0.86416	2.749000	0.94314	0.460000	0.39030	GTC		0.388	SEMA3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253279.1	NM_006379		3	31	0	0	0	1	0	3	31					G	80418784	C	G	80418784	3	3	424	1	0	0	0	0	1	0	0	0	14026	478	17	5	1091	5	SEMA3C	7	80418784	Missense_Mutation	SNP	C	TCGA-X4-A8KS-01A-12D-A364-08		80418784	78719879	15	20518											
SLC30A8	169026	broad.mit.edu	37	chr8	118175681	118175681	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tagccagagtataaaatagcCgacccaatctgcacattcat	15	9	6	11	1	2	1	1	0	1	1	2	2	2	1	3	0	3	2	3	0	6	5	rs185179876	byFrequency	TCGA-X4-A8KS-01A-12D-A364-08	TCGA-X4-A8KS-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82e2c88f-f5dd-441d-8a01-80d89c3f693d	a1004109-c2d6-4bb6-8dc9-d41d46ba165a	g.chr8:118175681C>T	ENST00000456015.2	+	6	741	c.741C>T	c.(739-741)gcC>gcT	p.A247A	SLC30A8_ENST00000521243.1_Silent_p.A198A|SLC30A8_ENST00000519688.1_Silent_p.A198A|RN7SL826P_ENST00000479724.2_RNA|SLC30A8_ENST00000427715.2_Silent_p.A198A	NM_173851.2	NP_776250.2	Q8IWU4	ZNT8_HUMAN	solute carrier family 30 (zinc transporter), member 8	247					cellular zinc ion homeostasis (GO:0006882)|insulin secretion (GO:0030073)|positive regulation of insulin secretion (GO:0032024)|regulation of sequestering of zinc ion (GO:0061088)|regulation of vesicle-mediated transport (GO:0060627)|response to glucose (GO:0009749)|response to interferon-gamma (GO:0034341)|response to interleukin-1 (GO:0070555)|sequestering of zinc ion (GO:0032119)|transmembrane transport (GO:0055085)|zinc ion transmembrane transport (GO:0071577)|zinc ion transport (GO:0006829)	cytoplasmic membrane-bounded vesicle (GO:0016023)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)|secretory granule membrane (GO:0030667)	protein homodimerization activity (GO:0042803)|zinc ion binding (GO:0008270)|zinc ion transmembrane transporter activity (GO:0005385)			breast(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(18)|ovary(2)|pancreas(2)|skin(5)	41	all_cancers(13;2.11e-22)|Lung NSC(37;6.08e-05)|Ovarian(258;0.0173)		STAD - Stomach adenocarcinoma(47;0.203)			ATAAAATAGCCGACCCAATCT	0.383													C|||	2	0.000399361	0	0.0014	5008	,	,		17620	0		0.001	False		,,,				2504	0				Ovarian(162;1202 1922 6011 16223 52092)	ENST00000427715.2																			0				breast(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(18)|ovary(2)|pancreas(2)|skin(5)	41						c.(592-594)gcC>gcT		solute carrier family 30 (zinc transporter), member 8		C	,,,,	0,4406		0,0,2203	136	137	137		594,594,594,594,741	-9.9	0.9	8		137	3,8597	3.0+/-9.4	0,3,4297	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	SLC30A8	NM_001172811.1,NM_001172813.1,NM_001172814.1,NM_001172815.1,NM_173851.2	,,,,	0,3,6500	TT,TC,CC		0.0349,0.0,0.0231	,,,,	198/321,198/321,198/321,198/321,247/370	118175681	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	169026				insulin secretion|positive regulation of insulin secretion|regulation of sequestering of zinc ion|regulation of vesicle-mediated transport|response to glucose stimulus|sequestering of zinc ion	integral to membrane|plasma membrane|secretory granule membrane|transport vesicle membrane	protein homodimerization activity|zinc ion transmembrane transporter activity	g.chr8:118175681C>T		CCDS6322.1, CCDS55272.1	8q24.11	2014-08-12			ENSG00000164756			"Solute carriers"	20303	protein-coding gene	gene with protein product		611145					Standard	NM_001172811		Approved		uc003yoh.3	Q8IWU4	OTTHUMG00000164962	ENST00000456015.2:c.741C>T	8.37:g.118175681C>T						SLC30A8_ENST00000521243.1_Silent_p.A198A|SLC30A8_ENST00000456015.2_Silent_p.A247A|SLC30A8_ENST00000519688.1_Silent_p.A198A	p.A198A	NM_001172813.1|NM_001172815.1	NP_001166284.1|NP_001166286.1	Q8IWU4	ZNT8_HUMAN	STAD - Stomach adenocarcinoma(47;0.203)		9	1028	+	all_cancers(13;2.11e-22)|Lung NSC(37;6.08e-05)|Ovarian(258;0.0173)		247					A0AVP9|A5YM39|B4DPE0|Q8TCL3	Silent	SNP	ENST00000456015.2	37	c.594C>T	CCDS6322.1																																																																																				0.383	SLC30A8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381205.1	NM_173851		5	44	0	0	0	1	0	5	44					T	118175681	C	T	118175681	2	4	424	1	0	0	0	0	0	0	0	1	14561	639	23	2		2	SLC30A8	8	118175681	Silent	SNP	C	TCGA-X4-A8KS-01A-12D-A364-08		118175681	28188341	16	20519											
C10orf118	55088	broad.mit.edu	37	chr10	115887293	115887293	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttctatcttttcatttttccGggcatgtgctttttgcagcc	4	20	7	10	1	3	0	1	0	2	0	4	0	4	0	2	1	3	3	2	1	1	8			TCGA-X4-A8KS-01A-12D-A364-08	TCGA-X4-A8KS-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82e2c88f-f5dd-441d-8a01-80d89c3f693d	a1004109-c2d6-4bb6-8dc9-d41d46ba165a	g.chr10:115887293G>A	ENST00000369287.3	-	14	2586	c.2320C>T	c.(2320-2322)Cgg>Tgg	p.R774W	C10orf118_ENST00000497592.1_5'Flank|C10orf118_ENST00000543782.1_Missense_Mutation_p.R372W	NM_018017.2	NP_060487.2	Q7Z3E2	CC186_HUMAN		774										NS(1)|autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(9)|ovary(2)	24		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0161)|all cancers(201;0.0397)		TCATTTTTCCGGGCATGTGCT	0.383																																						ENST00000369287.3																			0				NS(1)|autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(9)|ovary(2)	24						c.(2320-2322)Cgg>Tgg		chromosome 10 open reading frame 118							148	136	140					10																	115887293		2203	4300	6503	SO:0001583	missense	55088							g.chr10:115887293G>A																												ENST00000369287.3:c.2320C>T	10.37:g.115887293G>A	ENSP00000358293:p.Arg774Trp					C10orf118_ENST00000543782.1_Missense_Mutation_p.R372W	p.R774W	NM_018017.2	NP_060487.2	Q7Z3E2	CJ118_HUMAN		Epithelial(162;0.0161)|all cancers(201;0.0397)	14	2586	-		Colorectal(252;0.172)|Breast(234;0.188)	774					Q2M2V6|Q3ZB81|Q6NS91|Q7RTP1|Q8N117|Q8N3G3|Q8N6C2|Q9NWA3	Missense_Mutation	SNP	ENST00000369287.3	37	c.2320C>T	CCDS7587.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.19|19.19	3.779127|3.779127	0.70107|0.70107	.|.	.|.	ENSG00000165813|ENSG00000165813	ENST00000428953|ENST00000369287;ENST00000543782;ENST00000430353	.|T	.|0.41758	.|0.99	5.09|5.09	4.17|4.17	0.49024|0.49024	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.64382|0.64382	0.2593|0.2593	M|M	0.80982|0.80982	2.52|2.52	0.51482|0.51482	D|D	0.999927|0.999927	.|D;D	.|0.89917	.|1.0;1.0	.|D;P	.|0.79108	.|0.992;0.897	T|T	0.68842|0.68842	-0.5302|-0.5302	5|10	.|0.87932	.|D	.|0	.|.	12.0536|12.0536	0.53522|0.53522	0.0:0.0:0.6877:0.3123|0.0:0.0:0.6877:0.3123	.|.	.|372;774	.|F6VCB7;Q7Z3E2	.|.;CJ118_HUMAN	L|W	402|774;372;880	.|ENSP00000358293:R774W	.|ENSP00000358293:R774W	P|R	-|-	2|1	0|2	C10orf118|C10orf118	115877283|115877283	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.998000|0.998000	0.95712|0.95712	3.862000|3.862000	0.56009|0.56009	1.117000|1.117000	0.41842|0.41842	0.555000|0.555000	0.69702|0.69702	CCG|CGG		0.383	C10orf118-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050455.1			5	57	0	0	0	1	0	5	57					A	115887293	G	A	115887293	3	1	424	1	0	0	0	0	1	0	0	0	1587	1115	39	2	388	2	C10orf118	10	115887293	Missense_Mutation	SNP	G	TCGA-X4-A8KS-01A-12D-A364-08		115887293	19647454	17	20520											
FANK1	92565	broad.mit.edu	37	chr10	127585218	127585218	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gggagcagccgaccatggagCcccagagtaagggaggcccg	10	2	17	12	2	0	1	0	0	0	1	0	5	0	4	5	4	3	2	5	4	1	1			TCGA-X4-A8KS-01A-12D-A364-08	TCGA-X4-A8KS-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82e2c88f-f5dd-441d-8a01-80d89c3f693d	a1004109-c2d6-4bb6-8dc9-d41d46ba165a	g.chr10:127585218C>A	ENST00000368693.1	+	1	111	c.7C>A	c.(7-9)Ccc>Acc	p.P3T	FANK1_ENST00000449042.2_5'UTR|FANK1_ENST00000368695.1_5'UTR			Q8TC84	FANK1_HUMAN	fibronectin type III and ankyrin repeat domains 1	3						cytoplasm (GO:0005737)|nucleus (GO:0005634)				central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(10)|ovary(1)|urinary_tract(1)	21		all_lung(145;0.00752)|Lung NSC(174;0.0115)|Colorectal(57;0.0847)|all_neural(114;0.0936)				GACCATGGAGCCCCAGAGTAA	0.761																																						ENST00000368693.1																			0				central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(10)|ovary(1)|urinary_tract(1)	21						c.(7-9)Ccc>Acc		fibronectin type III and ankyrin repeat domains 1							9	12	11					10																	127585218		2171	4258	6429	SO:0001583	missense	92565					cytoplasm|nucleus		g.chr10:127585218C>A	BC024189	CCDS31309.1	10q26.2	2013-02-11	2005-03-01		ENSG00000203780	ENSG00000203780		"Ankyrin repeat domain containing", "Fibronectin type III domain containing"	23527	protein-coding gene	gene with protein product		611640	"fibronectin type 3 and ankyrin repeat domains 1"			12477932	Standard	NM_145235		Approved		uc001ljh.4	Q8TC84	OTTHUMG00000019241	ENST00000368693.1:c.7C>A	10.37:g.127585218C>A	ENSP00000357682:p.Pro3Thr					FANK1_ENST00000368695.1_5'UTR|FANK1_ENST00000449042.2_5'UTR	p.P3T			Q8TC84	FANK1_HUMAN			1	111	+		all_lung(145;0.00752)|Lung NSC(174;0.0115)|Colorectal(57;0.0847)|all_neural(114;0.0936)	3					Q6UXY9|Q6X7T6	Missense_Mutation	SNP	ENST00000368693.1	37	c.7C>A	CCDS31309.1	.	.	.	.	.	.	.	.	.	.	C	10.21	1.288816	0.23478	.	.	ENSG00000203780	ENST00000368693	T	0.43688	0.94	2.62	2.62	0.31277	.	.	.	.	.	T	0.25195	0.0612	N	0.22421	0.69	0.80722	D	1	B;B	0.12013	0.003;0.005	B;B	0.12837	0.007;0.008	T	0.05835	-1.0861	9	0.18276	T	0.48	.	8.8836	0.35389	0.0:1.0:0.0:0.0	.	3;3	Q8TC84-3;Q8TC84	.;FANK1_HUMAN	T	3	ENSP00000357682:P3T	ENSP00000357682:P3T	P	+	1	0	FANK1	127575208	1.000000	0.71417	1.000000	0.80357	0.407000	0.30961	2.904000	0.48719	1.756000	0.51951	0.462000	0.41574	CCC		0.761	FANK1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_145235		3	14	1	0	0.115264	1	0.117884	3	14					A	127585218	C	A	127585218	3	1	424	1	0	0	0	0	1	0	0	0	5672	739	26	5	9	5	FANK1	10	127585218	Missense_Mutation	SNP	C	TCGA-X4-A8KS-01A-12D-A364-08	11697925	127585218	7949529	18	20521											
LRRIQ1	84125	broad.mit.edu	37	chr12	85521642	85521642	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtaatccagtcatactggcGtggttacctcatgcgcagac	9	10	11	11	2	2	1	2	0	0	1	3	1	3	1	2	3	3	3	2	3	3	3			TCGA-X4-A8KS-01A-12D-A364-08	TCGA-X4-A8KS-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82e2c88f-f5dd-441d-8a01-80d89c3f693d	a1004109-c2d6-4bb6-8dc9-d41d46ba165a	g.chr12:85521642G>A	ENST00000393217.2	+	18	4101	c.4040G>A	c.(4039-4041)cGt>cAt	p.R1347H		NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	1347	IQ 2. {ECO:0000255|PROSITE- ProRule:PRU00116}.									breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		TCATACTGGCGTGGTTACCTC	0.388																																						ENST00000393217.2																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83						c.(4039-4041)cGt>cAt		leucine-rich repeats and IQ motif containing 1							92	95	94					12																	85521642		1856	4105	5961	SO:0001583	missense	84125							g.chr12:85521642G>A	AK022365	CCDS41816.1	12q21	2008-02-05			ENSG00000133640	ENSG00000133640			25708	protein-coding gene	gene with protein product						11347906	Standard	NM_001079910		Approved	FLJ12303, KIAA1801	uc001tac.3	Q96JM4	OTTHUMG00000166185	ENST00000393217.2:c.4040G>A	12.37:g.85521642G>A	ENSP00000376910:p.Arg1347His						p.R1347H	NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN		GBM - Glioblastoma multiforme(134;0.212)	18	4101	+			1347			IQ 2.		Q567P4|Q9BS17|Q9HA36	Missense_Mutation	SNP	ENST00000393217.2	37	c.4040G>A	CCDS41816.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.941944	0.73557	.	.	ENSG00000133640	ENST00000393217	T	0.77098	-1.07	5.21	4.3	0.51218	.	1.557830	0.06912	U	0.807812	T	0.82051	0.4953	N	0.19112	0.55	0.30989	N	0.721656	D	0.89917	1.0	D	0.81914	0.995	T	0.76940	-0.2773	10	0.87932	D	0	.	14.6719	0.68951	0.0741:0.0:0.9259:0.0	.	1347	Q96JM4	LRIQ1_HUMAN	H	1347	ENSP00000376910:R1347H	ENSP00000376910:R1347H	R	+	2	0	LRRIQ1	84045773	1.000000	0.71417	1.000000	0.80357	0.708000	0.40852	5.362000	0.66098	2.588000	0.87417	0.591000	0.81541	CGT		0.388	LRRIQ1-004	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388249.2	NM_032165		6	82	0	0	0	1	0	6	82					A	85521642	G	A	85521642	3	1	424	1	0	0	0	0	1	0	0	0	9029	1145	40	1	4110	1	LRRIQ1	12	85521642	Missense_Mutation	SNP	G	TCGA-X4-A8KS-01A-12D-A364-08		85521642	48330253	19	20522											
STAB2	55576	broad.mit.edu	37	chr12	104063362	104063362	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctatggacctgactgcaaccAgtgtccaggaggcttctcaa	10	9	10	12	0	1	1	1	1	1	0	3	3	2	3	3	3	2	2	3	3	3	2			TCGA-X4-A8KS-01A-12D-A364-08	TCGA-X4-A8KS-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82e2c88f-f5dd-441d-8a01-80d89c3f693d	a1004109-c2d6-4bb6-8dc9-d41d46ba165a	g.chr12:104063362A>G	ENST00000388887.2	+	21	2420	c.2216A>G	c.(2215-2217)cAg>cGg	p.Q739R	RP11-341G23.3_ENST00000550175.1_RNA	NM_017564.9	NP_060034.9			stabilin 2											NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						GACTGCAACCAGTGTCCAGGA	0.433																																						ENST00000388887.2																			0				NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						c.(2215-2217)cAg>cGg		stabilin 2							121	118	119					12																	104063362		2203	4300	6503	SO:0001583	missense	55576				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity	g.chr12:104063362A>G	AF160476	CCDS31888.1	12q23.3	2007-01-29				ENSG00000136011			18629	protein-coding gene	gene with protein product	"hyaluronic acid receptor for endocytosis"	608561				11829752, 12077138	Standard	XR_429107		Approved	DKFZP434E0321, FELL, STAB-2, HARE, FEEL-2	uc001tjw.3	Q8WWQ8	OTTHUMG00000170056	ENST00000388887.2:c.2216A>G	12.37:g.104063362A>G	ENSP00000373539:p.Gln739Arg						p.Q739R	NM_017564.9	NP_060034.9	Q8WWQ8	STAB2_HUMAN			21	2420	+			739			EGF-like 6.			Missense_Mutation	SNP	ENST00000388887.2	37	c.2216A>G	CCDS31888.1	.	.	.	.	.	.	.	.	.	.	A	14.99	2.701312	0.48307	.	.	ENSG00000136011	ENST00000388887	D	0.84070	-1.8	5.44	0.334	0.15948	Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.190796	0.43747	D	0.000527	T	0.72236	0.3435	L	0.40543	1.245	0.26474	N	0.97523	B	0.31125	0.309	B	0.27608	0.081	T	0.61327	-0.7085	10	0.46703	T	0.11	.	10.0945	0.42466	0.3076:0.5836:0.0:0.1088	.	739	Q8WWQ8	STAB2_HUMAN	R	739	ENSP00000373539:Q739R	ENSP00000373539:Q739R	Q	+	2	0	STAB2	102587492	0.405000	0.25336	0.809000	0.32408	0.963000	0.63663	1.144000	0.31565	-0.145000	0.11294	0.528000	0.53228	CAG		0.433	STAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407089.1			5	44	0	0	0	1	0	5	44					G	104063362	A	G	104063362	3	3	424	1	0	0	0	0	1	0	0	0	15237	188	7	4	2298	4	STAB2	12	104063362	Missense_Mutation	SNP	A	TCGA-X4-A8KS-01A-12D-A364-08	18541720	104063362	29788533	20	20523											
SLC46A3	283537	broad.mit.edu	37	chr13	29284911	29284911	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	actcaccttgttcagtcgaaCgaaccacttttgacaacatg	12	11	6	12	2	2	1	2	1	0	0	3	3	2	1	2	0	3	1	2	0	3	4	rs139317940		TCGA-X4-A8KS-01A-12D-A364-08	TCGA-X4-A8KS-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82e2c88f-f5dd-441d-8a01-80d89c3f693d	a1004109-c2d6-4bb6-8dc9-d41d46ba165a	g.chr13:29284911C>T	ENST00000266943.6	-	4	1499	c.1130G>A	c.(1129-1131)cGt>cAt	p.R377H	SLC46A3_ENST00000380814.4_Missense_Mutation_p.R377H	NM_001135919.1|NM_181785.3	NP_001129391.1|NP_861450.1	Q7Z3Q1	S46A3_HUMAN	solute carrier family 46, member 3	377					transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(2)|prostate(1)|skin(1)	15		Lung SC(185;0.0367)		all cancers(112;0.159)		TTCAGTCGAACGAACCACTTT	0.383													C|||	1	0.000199681	0	0	5008	,	,		18760	0		0.001	False		,,,				2504	0					ENST00000266943.6																			0				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(2)|prostate(1)|skin(1)	15						c.(1129-1131)cGt>cAt		solute carrier family 46, member 3		C	HIS/ARG,HIS/ARG	2,4404	4.2+/-10.8	0,2,2201	135	132	133		1130,1130	-11.7	0	13	dbSNP_134	133	0,8600		0,0,4300	yes	missense,missense	SLC46A3	NM_001135919.1,NM_181785.3	29,29	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	benign,benign	377/464,377/462	29284911	2,13004	2203	4300	6503	SO:0001583	missense	283537				transmembrane transport	integral to membrane		g.chr13:29284911C>T		CCDS9332.1, CCDS45021.1	13q12.3	2013-05-22	2007-03-29		ENSG00000139508	ENSG00000139508		"Solute carriers"	27501	protein-coding gene	gene with protein product							Standard	NM_001135919		Approved	DKFZp686A1775, FLJ42613	uc001usj.3	Q7Z3Q1	OTTHUMG00000016650	ENST00000266943.6:c.1130G>A	13.37:g.29284911C>T	ENSP00000266943:p.Arg377His					SLC46A3_ENST00000380814.4_Missense_Mutation_p.R377H	p.R377H	NM_001135919.1|NM_181785.3	NP_001129391.1|NP_861450.1	Q7Z3Q1	S46A3_HUMAN		all cancers(112;0.159)	4	1499	-		Lung SC(185;0.0367)	377					Q3ZCV8|Q6NUK5|Q6P9B3|Q6ZVG5|Q96QA1	Missense_Mutation	SNP	ENST00000266943.6	37	c.1130G>A	CCDS9332.1	.	.	.	.	.	.	.	.	.	.	C	8.439	0.850358	0.17034	4.54E-4	0.0	ENSG00000139508	ENST00000266943;ENST00000380814	T;T	0.80909	-1.43;-1.43	5.87	-11.7	0.00046	Major facilitator superfamily domain, general substrate transporter (1);	1.106810	0.06459	N	0.729123	T	0.50446	0.1616	N	0.04880	-0.145	0.09310	N	1	B;B	0.09022	0.002;0.002	B;B	0.04013	0.0;0.001	T	0.43032	-0.9416	10	0.35671	T	0.21	-0.743	3.0323	0.06110	0.1003:0.2332:0.2976:0.3688	.	377;377	Q7Z3Q1-2;Q7Z3Q1	.;S46A3_HUMAN	H	377	ENSP00000266943:R377H;ENSP00000370192:R377H	ENSP00000266943:R377H	R	-	2	0	SLC46A3	28182911	0.000000	0.05858	0.006000	0.13384	0.932000	0.56968	-0.475000	0.06599	-2.732000	0.00383	-0.940000	0.02684	CGT		0.383	SLC46A3-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000276111.1	NM_181785		4	51	0	0	0	1	0	4	51					T	29284911	C	T	29284911	3	4	424	1	0	0	0	0	1	0	0	0	14646	536	19	1	281	1	SLC46A3	13	29284911	Missense_Mutation	SNP	C	TCGA-X4-A8KS-01A-12D-A364-08		29284911	85884967	21	20524											
PCDH20	64881	broad.mit.edu	37	chr13	61986869	61986869	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accttctggatctcttatggTgaaaaacgcaatgggagtgt	11	12	11	7	1	2	1	0	1	2	0	3	3	2	3	1	3	1	1	1	3	4	2			TCGA-X4-A8KS-01A-12D-A364-08	TCGA-X4-A8KS-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82e2c88f-f5dd-441d-8a01-80d89c3f693d	a1004109-c2d6-4bb6-8dc9-d41d46ba165a	g.chr13:61986869T>C	ENST00000409186.1	-	5	3468	c.1363A>G	c.(1363-1365)Acc>Gcc	p.T455A	PCDH20_ENST00000409204.4_Missense_Mutation_p.T455A			Q8N6Y1	PCD20_HUMAN	protocadherin 20	455	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(14)|liver(1)|lung(23)|ovary(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	58		Breast(118;0.195)|Prostate(109;0.229)		GBM - Glioblastoma multiforme(99;0.000118)		TCTCTTATGGTGAAAAACGCA	0.413																																						ENST00000409186.1																			0				breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(14)|liver(1)|lung(23)|ovary(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	58						c.(1363-1365)Acc>Gcc		protocadherin 20							102	103	102					13																	61986869		2203	4300	6503	SO:0001583	missense	64881				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr13:61986869T>C	AF169693	CCDS9442.2	13q21	2010-01-26			ENSG00000197991	ENSG00000197991		"Cadherins / Protocadherins : Non-clustered"	14257	protein-coding gene	gene with protein product		614449					Standard	NM_022843		Approved	PCDH13, FLJ22218	uc001vid.4	Q8N6Y1	OTTHUMG00000017012	ENST00000409186.1:c.1363A>G	13.37:g.61986869T>C	ENSP00000386653:p.Thr455Ala					PCDH20_ENST00000409204.4_Missense_Mutation_p.T455A	p.T455A			Q8N6Y1	PCD20_HUMAN		GBM - Glioblastoma multiforme(99;0.000118)	5	3468	-		Breast(118;0.195)|Prostate(109;0.229)	428			Cadherin 3.		A8K1K9|B1AQU2|Q8NDN4|Q9NRT9	Missense_Mutation	SNP	ENST00000409186.1	37	c.1363A>G	CCDS9442.2	.	.	.	.	.	.	.	.	.	.	T	18.32	3.599171	0.66332	.	.	ENSG00000197991	ENST00000409204;ENST00000409186;ENST00000358674	T;T	0.61859	0.07;0.07	5.6	5.6	0.85130	.	0.000000	0.64402	D	0.000004	T	0.69115	0.3075	M	0.82716	2.605	0.80722	D	1	P	0.52170	0.951	P	0.48552	0.581	T	0.75800	-0.3190	10	0.72032	D	0.01	.	16.0816	0.81007	0.0:0.0:0.0:1.0	.	455	A8K1K9	.	A	455;455;201	ENSP00000387250:T455A;ENSP00000386653:T455A	ENSP00000351500:T201A	T	-	1	0	PCDH20	60884870	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.948000	0.87774	2.266000	0.75297	0.528000	0.53228	ACC		0.413	PCDH20-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333054.2	NM_022843		10	93	0	0	0	1	0	10	93					C	61986869	T	C	61986869	3	2	424	1	0	0	0	0	1	0	0	0	11515	1696	59	4	1496	4	PCDH20	13	61986869	Missense_Mutation	SNP	T	TCGA-X4-A8KS-01A-12D-A364-08	32701958	61986869	53183009	22	20525											
AQR	9716	broad.mit.edu	37	chr15	35189761	35189761	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	taataggtagtaaaattaccGtttgggttgattataaggat	14	15	10	2	1	0	1	0	1	0	0	0	2	0	2	1	3	1	4	1	3	8	9	rs201758262		TCGA-X4-A8KS-01A-12D-A364-08	TCGA-X4-A8KS-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82e2c88f-f5dd-441d-8a01-80d89c3f693d	a1004109-c2d6-4bb6-8dc9-d41d46ba165a	g.chr15:35189761G>A	ENST00000156471.5	-	21	2614	c.2389C>T	c.(2389-2391)Cgt>Tgt	p.R797C		NM_014691.2	NP_055506.1	O60306	AQR_HUMAN	aquarius intron-binding spliceosomal factor	797					mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(10)|lung(18)|ovary(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	57		Lung NSC(122;8.7e-10)|all_lung(180;1.47e-08)		all cancers(64;4.34e-18)|GBM - Glioblastoma multiforme(113;4.59e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0283)		TAAAATTACCGTTTGGGTTGA	0.343													G|||	1	0.000199681	0	0	5008	,	,		19399	0		0.001	False		,,,				2504	0					ENST00000156471.5																			0				breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(10)|lung(18)|ovary(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	57						c.e21+1		aquarius intron-binding spliceosomal factor							76	73	74					15																	35189761		1806	4066	5872	SO:0001630	splice_region_variant	9716					catalytic step 2 spliceosome	RNA binding	g.chr15:35189761G>A	AB011132	CCDS42013.1	15q13	2013-09-12	2013-09-12			ENSG00000021776			29513	protein-coding gene	gene with protein product	"functional spliceosome-associated protein 164"	610548	"aquarius homolog (mouse)"			9626505, 16949364	Standard	NM_014691		Approved	KIAA0560, fSAP164, IBP160	uc001ziv.3	O60306		ENST00000156471.5:c.2390+1C>T	15.37:g.35189761G>A							p.R797_splice	NM_014691.2	NP_055506.1	O60306	AQR_HUMAN		all cancers(64;4.34e-18)|GBM - Glioblastoma multiforme(113;4.59e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0283)	21	2614	-		Lung NSC(122;8.7e-10)|all_lung(180;1.47e-08)	797					A0JP17|A5YKK3|Q2YDX9|Q6IRU8|Q6PIC8	Splice_Site	SNP	ENST00000156471.5	37	c.2390_splice	CCDS42013.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	29.9	5.045886	0.93685	.	.	ENSG00000021776	ENST00000156471;ENST00000543879	D	0.82433	-1.61	5.57	5.57	0.84162	.	0.000000	0.85682	D	0.000000	D	0.89619	0.6767	M	0.74258	2.255	0.80722	D	1	D	0.76494	0.999	P	0.57324	0.818	D	0.90033	0.4136	10	0.59425	D	0.04	-14.8921	19.5396	0.95268	0.0:0.0:1.0:0.0	.	797	O60306	AQR_HUMAN	C	797	ENSP00000156471:R797C	ENSP00000156471:R797C	R	-	1	0	AQR	32977053	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.172000	0.71932	2.611000	0.88343	0.591000	0.81541	CGT		0.343	AQR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417526.2	NM_014691	Missense_Mutation	5	49	0	0	0	1	0	5	49					A	35189761	G	A	35189761	5	1	424	1	0	0	0	0	0	0	1	0	835	1159	40	1	2128	1	AQR	15	35189761	Splice_Site	SNP	G	TCGA-X4-A8KS-01A-12D-A364-08		35189761	67341631	23	20526											
MFSD6L	162387	broad.mit.edu	37	chr17	8702014	8702014	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ccacctctgcagtcctcttgGctgggtggctggaggcagac	5	9	14	13	0	2	1	0	0	2	1	3	2	3	2	3	5	1	4	3	5	0	1			TCGA-X4-A8KS-01A-12D-A364-08	TCGA-X4-A8KS-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82e2c88f-f5dd-441d-8a01-80d89c3f693d	a1004109-c2d6-4bb6-8dc9-d41d46ba165a	g.chr17:8702014G>C	ENST00000329805.4	-	1	653	c.425C>G	c.(424-426)gCc>gGc	p.A142G		NM_152599.3	NP_689812.3	Q8IWD5	MFS6L_HUMAN	major facilitator superfamily domain containing 6-like	142						integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(7)|skin(4)	17						AGTCCTCTTGGCTGGGTGGCT	0.587																																						ENST00000329805.4																			0				central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(7)|skin(4)	17						c.(424-426)gCc>gGc		major facilitator superfamily domain containing 6-like							81	89	87					17																	8702014		2203	4300	6503	SO:0001583	missense	162387					integral to membrane		g.chr17:8702014G>C	AK093092	CCDS11146.1	17p13.1	2014-05-30			ENSG00000185156	ENSG00000185156			26656	protein-coding gene	gene with protein product							Standard	NM_152599		Approved	FLJ35773	uc002glp.2	Q8IWD5	OTTHUMG00000178584	ENST00000329805.4:c.425C>G	17.37:g.8702014G>C	ENSP00000330051:p.Ala142Gly						p.A142G	NM_152599.3	NP_689812.3	Q8IWD5	MFS6L_HUMAN			1	653	-			142					Q6YL34|Q8NA76	Missense_Mutation	SNP	ENST00000329805.4	37	c.425C>G	CCDS11146.1	.	.	.	.	.	.	.	.	.	.	G	12.35	1.911002	0.33721	.	.	ENSG00000185156	ENST00000329805	T	0.45668	0.89	4.27	-8.53	0.00916	.	3.379840	0.00932	N	0.002721	T	0.31358	0.0794	N	0.16066	0.365	0.09310	N	1	D	0.56287	0.975	P	0.57371	0.819	T	0.46721	-0.9171	10	0.15952	T	0.53	-3.8889	3.8102	0.08793	0.1626:0.4882:0.1549:0.1943	.	142	Q8IWD5	MFS6L_HUMAN	G	142	ENSP00000330051:A142G	ENSP00000330051:A142G	A	-	2	0	MFSD6L	8642739	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	0.242000	0.18087	-1.681000	0.01448	-0.176000	0.13171	GCC		0.587	MFSD6L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442554.1	NM_152599		5	61	0	0	0	1	0	5	61					C	8702014	G	C	8702014	3	2	424	1	0	0	0	0	1	0	0	0	9536	1203	42	5	1339	5	MFSD6L	17	8702014	Missense_Mutation	SNP	G	TCGA-X4-A8KS-01A-12D-A364-08		8702014	72493196	24	20527											
SPOP	8405	broad.mit.edu	37	chr17	47696431	47696431	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggatgaatttcttgaatcccCagtctttgccttgcacaaac	10	13	7	11	0	2	2	0	2	2	0	3	3	3	3	3	1	3	1	3	1	3	4			TCGA-X4-A8KS-01A-12D-A364-08	TCGA-X4-A8KS-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82e2c88f-f5dd-441d-8a01-80d89c3f693d	a1004109-c2d6-4bb6-8dc9-d41d46ba165a	g.chr17:47696431C>A	ENST00000393328.2	-	6	757	c.392G>T	c.(391-393)tGg>tTg	p.W131L	SPOP_ENST00000393331.3_Missense_Mutation_p.W131L|SPOP_ENST00000503676.1_Missense_Mutation_p.W131L|SPOP_ENST00000504102.1_Missense_Mutation_p.W131L|SPOP_ENST00000513080.1_5'Flank|SPOP_ENST00000347630.2_Missense_Mutation_p.W131L	NM_003563.3	NP_003554.1	O43791	SPOP_HUMAN	speckle-type POZ protein	131	Important for binding substrate proteins.|MATH. {ECO:0000255|PROSITE- ProRule:PRU00129}.|Required for nuclear localization.				glucose homeostasis (GO:0042593)|positive regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902237)|positive regulation of type B pancreatic cell apoptotic process (GO:2000676)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	Cul3-RING ubiquitin ligase complex (GO:0031463)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	ubiquitin protein ligase binding (GO:0031625)			endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						CTTGAATCCCCAGTCTTTGCC	0.453										Prostate(2;0.17)																												ENST00000393331.3																			0				endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						c.(391-393)tGg>tTg		speckle-type POZ protein							121	123	123					17																	47696431		2203	4300	6503	SO:0001583	missense	8405				mRNA processing	nucleus	protein binding	g.chr17:47696431C>A	AJ000644	CCDS11551.1	17q21.33	2013-01-09			ENSG00000121067	ENSG00000121067		"BTB/POZ domain containing"	11254	protein-coding gene	gene with protein product		602650				9414087	Standard	NM_001007227		Approved	TEF2, BTBD32	uc002ipg.3	O43791	OTTHUMG00000161496	ENST00000393328.2:c.392G>T	17.37:g.47696431C>A	ENSP00000377001:p.Trp131Leu	Prostate(2;0.17)				SPOP_ENST00000504102.1_Missense_Mutation_p.W131L|SPOP_ENST00000503676.1_Missense_Mutation_p.W131L|SPOP_ENST00000393328.2_Missense_Mutation_p.W131L|SPOP_ENST00000347630.2_Missense_Mutation_p.W131L	p.W131L	NM_001007226.1|NM_001007227.1	NP_001007227.1|NP_001007228.1	O43791	SPOP_HUMAN			7	862	-			131			MATH.|Required for nuclear localization.		B2R6S3|D3DTW7|Q53HJ1	Missense_Mutation	SNP	ENST00000393328.2	37	c.392G>T	CCDS11551.1	.	.	.	.	.	.	.	.	.	.	C	28.4	4.915396	0.92178	.	.	ENSG00000121067	ENST00000393328;ENST00000393331;ENST00000347630;ENST00000504102;ENST00000503536;ENST00000503676;ENST00000513872;ENST00000509079;ENST00000505581;ENST00000507970;ENST00000514121	T;T;T;T;T;T;T;T;T	0.69040	-0.37;-0.37;-0.37;-0.37;-0.37;-0.37;-0.37;-0.37;-0.37	5.41	5.41	0.78517	TRAF-type (1);TRAF-like (1);MATH (3);	0.000000	0.85682	D	0.000000	T	0.75576	0.3868	M	0.67700	2.07	0.80722	D	1	P	0.47841	0.901	P	0.51516	0.672	T	0.76337	-0.2996	10	0.52906	T	0.07	0.1404	18.9712	0.92715	0.0:1.0:0.0:0.0	.	131	O43791	SPOP_HUMAN	L	131;131;131;131;15;131;84;131;131;131;131	ENSP00000377001:W131L;ENSP00000377004:W131L;ENSP00000240327:W131L;ENSP00000425905:W131L;ENSP00000420908:W131L;ENSP00000426986:W131L;ENSP00000420960:W131L;ENSP00000426262:W131L;ENSP00000424119:W131L	ENSP00000240327:W131L	W	-	2	0	SPOP	45051430	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.583000	0.82559	2.802000	0.96397	0.563000	0.77884	TGG		0.453	SPOP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365154.2	NM_003563		5	79	1	0	0.217242	1	0.217242	5	79					A	47696431	C	A	47696431	3	1	424	1	0	0	0	0	1	0	0	0	15083	595	21	5	756	5	SPOP	17	47696431	Missense_Mutation	SNP	C	TCGA-X4-A8KS-01A-12D-A364-08	38994417	47696431	33498779	25	20528											
ZBTB7C	201501	broad.mit.edu	37	chr18	45566931	45566931	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagggctttggtggcagctgAtgtcctgggggtcaggcaag	7	9	18	7	0	1	1	1	1	0	0	2	1	2	1	1	6	1	4	1	6	2	1			TCGA-X4-A8KS-01A-12D-A364-08	TCGA-X4-A8KS-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82e2c88f-f5dd-441d-8a01-80d89c3f693d	a1004109-c2d6-4bb6-8dc9-d41d46ba165a	g.chr18:45566931A>C	ENST00000588982.1	-	3	1049	c.548T>G	c.(547-549)aTc>aGc	p.I183S	ZBTB7C_ENST00000590800.1_Missense_Mutation_p.I183S|ZBTB7C_ENST00000586438.1_Missense_Mutation_p.I183S|ZBTB7C_ENST00000332053.2_Missense_Mutation_p.I183S|ZBTB7C_ENST00000535628.2_Missense_Mutation_p.I183S			A1YPR0	ZBT7C_HUMAN	zinc finger and BTB domain containing 7C	183							metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			endometrium(8)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23						GTGGCAGCTGATGTCCTGGGG	0.562																																						ENST00000588982.1																			0				endometrium(8)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23						c.(547-549)aTc>aGc		zinc finger and BTB domain containing 7C							120	114	116					18																	45566931		2203	4300	6503	SO:0001583	missense	201501					intracellular	nucleic acid binding|zinc ion binding	g.chr18:45566931A>C	Y14591	CCDS32830.1	18q21.1	2013-01-08		2005-04-07	ENSG00000184828	ENSG00000184828		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	31700	protein-coding gene	gene with protein product			"zinc finger and BTB domain containing 36"	ZBTB36			Standard	NM_001039360		Approved	ZNF857C	uc002ldb.3	A1YPR0		ENST00000588982.1:c.548T>G	18.37:g.45566931A>C	ENSP00000468782:p.Ile183Ser					ZBTB7C_ENST00000535628.2_Missense_Mutation_p.I183S|ZBTB7C_ENST00000332053.2_Missense_Mutation_p.I183S|ZBTB7C_ENST00000590800.1_Missense_Mutation_p.I183S|ZBTB7C_ENST00000586438.1_Missense_Mutation_p.I183S	p.I183S			A1YPR0	ZBT7C_HUMAN			3	1049	-			183					O73453	Missense_Mutation	SNP	ENST00000588982.1	37	c.548T>G	CCDS32830.1	.	.	.	.	.	.	.	.	.	.	A	10.14	1.269315	0.23221	.	.	ENSG00000184828	ENST00000535628;ENST00000332053	T;T	0.10099	2.91;2.91	5.18	5.18	0.71444	.	0.609167	0.17306	N	0.179061	T	0.03915	0.0110	N	0.03608	-0.345	0.31717	N	0.638838	B;B;B	0.06786	0.0;0.001;0.001	B;B;B	0.04013	0.001;0.001;0.001	T	0.27640	-1.0068	10	0.08381	T	0.77	.	6.4401	0.21845	0.7609:0.159:0.0802:0.0	.	183;183;183	B4DKU0;B2RG49;A1YPR0	.;.;ZBT7C_HUMAN	S	183	ENSP00000439781:I183S;ENSP00000328732:I183S	ENSP00000328732:I183S	I	-	2	0	ZBTB7C	43820929	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	1.894000	0.39768	1.946000	0.56461	0.402000	0.26972	ATC		0.562	ZBTB7C-025	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450731.1	NM_001039360		5	55	0	0	0	1	0	5	55					C	45566931	A	C	45566931	3	2	424	1	0	0	0	0	1	0	0	0	17552	333	12	5	1319	5	ZBTB7C	18	45566931	Missense_Mutation	SNP	A	TCGA-X4-A8KS-01A-12D-A364-08		45566931	32510317	26	20529											
NWD1	284434	broad.mit.edu	37	chr19	16860790	16860790	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggatgacctggactctgtccGccatgctcggagggttccct	5	10	13	13	2	1	1	0	1	1	0	4	4	3	4	4	4	1	2	4	4	0	1	rs562546617		TCGA-X4-A8KS-01A-12D-A364-08	TCGA-X4-A8KS-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82e2c88f-f5dd-441d-8a01-80d89c3f693d	a1004109-c2d6-4bb6-8dc9-d41d46ba165a	g.chr19:16860790G>C	ENST00000552788.1	+	4	1337	c.1337G>C	c.(1336-1338)cGc>cCc	p.R446P	NWD1_ENST00000523826.1_Missense_Mutation_p.R240P|NWD1_ENST00000549814.1_Missense_Mutation_p.R446P|NWD1_ENST00000339803.6_Missense_Mutation_p.R311P|NWD1_ENST00000524140.2_Missense_Mutation_p.R446P|NWD1_ENST00000379808.3_Missense_Mutation_p.R446P			Q149M9	NWD1_HUMAN	NACHT and WD repeat domain containing 1	446	NACHT.						ATP binding (GO:0005524)			NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						GACTCTGTCCGCCATGCTCGG	0.592																																						ENST00000524140.2																			0				NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						c.(1336-1338)cGc>cCc		NACHT and WD repeat domain containing 1							77	74	75					19																	16860790		2203	4300	6503	SO:0001583	missense	284434						ATP binding	g.chr19:16860790G>C	BX648940	CCDS32945.1, CCDS32945.2	19p13.11	2013-01-09				ENSG00000188039		"WD repeat domain containing"	27619	protein-coding gene	gene with protein product							Standard	NM_001007525		Approved		uc002neu.4	Q149M9		ENST00000552788.1:c.1337G>C	19.37:g.16860790G>C	ENSP00000447224:p.Arg446Pro					NWD1_ENST00000552788.1_Missense_Mutation_p.R446P|NWD1_ENST00000523826.1_Missense_Mutation_p.R240P|NWD1_ENST00000339803.6_Missense_Mutation_p.R311P|NWD1_ENST00000549814.1_Missense_Mutation_p.R446P|NWD1_ENST00000379808.3_Missense_Mutation_p.R446P	p.R446P	NM_001007525.3	NP_001007526.3	Q149M9	NWD1_HUMAN			6	1755	+			446			NACHT.		C9J021|Q68CT3	Missense_Mutation	SNP	ENST00000552788.1	37	c.1337G>C		.	.	.	.	.	.	.	.	.	.	N	8.220	0.802255	0.16397	.	.	ENSG00000188039	ENST00000420818;ENST00000524140;ENST00000549814;ENST00000379808;ENST00000523826;ENST00000552788;ENST00000339803	D;D;D;D;D;D	0.81579	-1.51;-1.51;-1.51;-1.51;-1.51;-1.51	4.78	-7.51	0.01346	.	1.264110	0.05122	N	0.490912	T	0.68072	0.2961	L	0.27053	0.805	0.09310	N	1	P;P;P	0.50710	0.895;0.924;0.938	B;B;P	0.46237	0.425;0.299;0.508	T	0.63834	-0.6547	10	0.22706	T	0.39	-1.048	8.2986	0.32001	0.6374:0.103:0.2596:0.0	.	446;446;311	Q149M9;Q149M9-3;C9J2Y8	NWD1_HUMAN;.;.	P	311;446;446;446;240;446;311	ENSP00000428579:R446P;ENSP00000447548:R446P;ENSP00000369136:R446P;ENSP00000428955:R240P;ENSP00000447224:R446P;ENSP00000340159:R311P	ENSP00000340159:R311P	R	+	2	0	NWD1	16721790	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.584000	0.23864	-1.629000	0.01546	-1.845000	0.00574	CGC		0.592	NWD1-005	NOVEL	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000403569.1	NM_001007525		5	38	0	0	0	1	0	5	38					C	16860790	G	C	16860790	3	2	424	1	0	0	0	0	1	0	0	0	10781	1087	38	5	938	5	NWD1	19	16860790	Missense_Mutation	SNP	G	TCGA-X4-A8KS-01A-12D-A364-08		16860790	42268193	27	20530											
ACPT	93650	broad.mit.edu	37	chr19	51293714	51293716	+	In_Frame_Del	DEL	CTG	CTG	-																															gccaccctgctggacctctcCtgctgctgctgctgctggtg																										TCGA-X4-A8KS-01A-12D-A364-08	TCGA-X4-A8KS-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82e2c88f-f5dd-441d-8a01-80d89c3f693d	a1004109-c2d6-4bb6-8dc9-d41d46ba165a	g.chr19:51293714_51293716delCTG	ENST00000270593.1	+	1	43_45	c.43_45delCTG	c.(43-45)ctgdel	p.L20del	CTD-2568A17.8_ENST00000594114.1_RNA|ACPT_ENST00000270594.3_In_Frame_Del_p.L20del	NM_033068.2	NP_149059.1	Q9BZG2	PPAT_HUMAN	acid phosphatase, testicular	20						integral component of membrane (GO:0016021)	acid phosphatase activity (GO:0003993)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|skin(3)	11		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028)		TGGACCTCTCctgctgctgctgc	0.709																																						ENST00000270593.1																			0				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|skin(3)	11						c.(43-45)del		acid phosphatase, testicular				168,3966		7,154,1906						-0.3	0			15	194,7852		8,178,3837	no	coding	ACPT	NM_033068.2		15,332,5743	A1A1,A1R,RR		2.4111,4.0639,2.9721				362,11818				SO:0001651	inframe_deletion	93650					integral to membrane	acid phosphatase activity	g.chr19:51293714_51293716delCTG	AF321918	CCDS12802.1	19q13.33	2012-10-02			ENSG00000142513	ENSG00000142513			14376	protein-coding gene	gene with protein product		606362				11414767	Standard	NM_033068		Approved		uc002pta.1	Q9BZG2		ENST00000270593.1:c.43_45delCTG	19.37:g.51293723_51293725delCTG	ENSP00000270593:p.Leu20del					ACPT_ENST00000270594.3_In_Frame_Del_p.L20del	p.L20del	NM_033068.2	NP_149059.1	Q9BZG2	PPAT_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028)	1	43_45	+		all_neural(266;0.057)	20					C0H3P7|Q9BZG3|Q9BZG4	In_Frame_Del	DEL	ENST00000270593.1	37	c.43_45delCTG	CCDS12802.1																																																																																				0.709	ACPT-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464434.1	NM_033068		2	4						2	4	---	---	---	---	-	51293716	CTG	-	51293714	7	5	424	1	0	1	0	1	0	0	0	0	168	680	24	0	45	0	ACPT	19	51293714	In_Frame_Del	DEL	CTG	TCGA-X4-A8KS-01A-12D-A364-08	34432924	51293714	7835269	28	20531											
PCNA	5111	broad.mit.edu	37	chr20	5099414	5099414	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cggtaaaaaggtacgacttaCttggtgcttcaaatactagc	13	11	9	8	2	1	0	1	0	0	0	1	1	1	0	0	3	5	3	0	3	8	7	rs112672560		TCGA-X4-A8KS-01A-12D-A364-08	TCGA-X4-A8KS-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82e2c88f-f5dd-441d-8a01-80d89c3f693d	a1004109-c2d6-4bb6-8dc9-d41d46ba165a	g.chr20:5099414C>T	ENST00000379160.3	-	3	562		c.e3+1		SNORA26_ENST00000391215.1_RNA|PCNA_ENST00000379143.5_Splice_Site	NM_002592.2	NP_002583.1	P12004	PCNA_HUMAN	proliferating cell nuclear antigen						base-excision repair (GO:0006284)|cell proliferation (GO:0008283)|DNA repair (GO:0006281)|DNA strand elongation involved in DNA replication (GO:0006271)|epithelial cell differentiation (GO:0030855)|G1/S transition of mitotic cell cycle (GO:0000082)|heart development (GO:0007507)|leading strand elongation (GO:0006272)|mismatch repair (GO:0006298)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|positive regulation of deoxyribonuclease activity (GO:0032077)|regulation of DNA replication (GO:0006275)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|response to cadmium ion (GO:0046686)|response to lipid (GO:0033993)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)|translesion synthesis (GO:0019985)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|DNA replication factor C complex (GO:0005663)|extracellular vesicular exosome (GO:0070062)|nuclear replication fork (GO:0043596)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PCNA complex (GO:0043626)|PCNA-p21 complex (GO:0070557)	dinucleotide insertion or deletion binding (GO:0032139)|DNA polymerase binding (GO:0070182)|DNA polymerase processivity factor activity (GO:0030337)|identical protein binding (GO:0042802)|MutLalpha complex binding (GO:0032405)|purine-specific mismatch base pair DNA N-glycosylase activity (GO:0000701)|receptor tyrosine kinase binding (GO:0030971)			endometrium(2)|kidney(1)|large_intestine(4)|lung(2)	9						GTACGACTTACTTGGTGCTTC	0.413								DNA polymerases (catalytic subunits)																														ENST00000379160.3																			0				endometrium(2)|kidney(1)|large_intestine(4)|lung(2)	9						c.e3+1	DNA polymerases (catalytic subunits)	proliferating cell nuclear antigen							232	229	230					20																	5099414		2203	4300	6503	SO:0001630	splice_region_variant	5111				cell proliferation|DNA strand elongation involved in DNA replication|mismatch repair|nucleotide-excision repair, DNA gap filling|phosphatidylinositol-mediated signaling|positive regulation of deoxyribonuclease activity|regulation of DNA replication|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair|translesion synthesis	cytoplasm|DNA replication factor C complex|microtubule cytoskeleton|nuclear replication fork|nucleoplasm|PCNA complex|PCNA-p21 complex	dinucleotide insertion or deletion binding|DNA polymerase processivity factor activity|MutLalpha complex binding|purine-specific mismatch base pair DNA N-glycosylase activity	g.chr20:5099414C>T	J04718	CCDS13087.1	20p13-p12.3	2013-09-19			ENSG00000132646	ENSG00000132646			8729	protein-coding gene	gene with protein product		176740				2565339	Standard	NM_002592		Approved		uc002wlp.3	P12004	OTTHUMG00000031798	ENST00000379160.3:c.319+1G>A	20.37:g.5099414C>T						PCNA_ENST00000379143.5_Splice_Site		NM_002592.2	NP_002583.1	P12004	PCNA_HUMAN			3	562	-								B2R897|D3DW02	Splice_Site	SNP	ENST00000379160.3	37		CCDS13087.1	.	.	.	.	.	.	.	.	.	.	C	16.89	3.247104	0.59103	.	.	ENSG00000132646	ENST00000379143;ENST00000379160	.	.	.	4.24	4.24	0.50183	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.5007	0.61454	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PCNA	5047414	1.000000	0.71417	1.000000	0.80357	0.585000	0.36419	5.647000	0.67923	2.175000	0.68902	0.557000	0.71058	.		0.413	PCNA-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077852.2		Intron	17	204	0	0	0	1	0	17	204					T	5099414	C	T	5099414	5	4	424	1	0	0	0	0	0	0	1	0	11588	579	20	3	485	3	PCNA	20	5099414	Splice_Site	SNP	C	TCGA-X4-A8KS-01A-12D-A364-08		5099414	57926106	29	20532											
DIDO1	11083	broad.mit.edu	37	chr20	61513251	61513251	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caacggaggtgccggcacccCgtcctctgctgtggttttgg	4	10	14	13	3	1	0	0	0	1	0	2	1	2	1	4	5	3	3	4	5	1	2			TCGA-X4-A8KS-01A-12D-A364-08	TCGA-X4-A8KS-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82e2c88f-f5dd-441d-8a01-80d89c3f693d	a1004109-c2d6-4bb6-8dc9-d41d46ba165a	g.chr20:61513251C>T	ENST00000266070.4	-	16	4382	c.4057G>A	c.(4057-4059)Ggg>Agg	p.G1353R	DIDO1_ENST00000395343.1_Missense_Mutation_p.G1353R	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	1353					apoptotic signaling pathway (GO:0097190)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					GCCGGCACCCCGTCCTCTGCT	0.577																																					Melanoma(25;381 482 3385 5362 7955 17159 17174 40604 47095)	ENST00000266070.4																			0				NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99						c.(4057-4059)Ggg>Agg		death inducer-obliterator 1							91	107	101					20																	61513251		2203	4300	6503	SO:0001583	missense	11083				apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding	g.chr20:61513251C>T	AB002331	CCDS13508.2, CCDS13509.1, CCDS33506.1	20q13.33	2013-01-28	2005-11-11	2005-11-11	ENSG00000101191	ENSG00000101191		"Zinc fingers, PHD-type"	2680	protein-coding gene	gene with protein product		604140	"chromosome 20 open reading frame 158", "death associated transcription factor 1"	C20orf158, DATF1		10393935	Standard	NM_033081		Approved	DIO1, dJ885L7.8, FLJ11265, KIAA0333, DIO-1, BYE1	uc002ydr.2	Q9BTC0	OTTHUMG00000032945	ENST00000266070.4:c.4057G>A	20.37:g.61513251C>T	ENSP00000266070:p.Gly1353Arg					DIDO1_ENST00000395343.1_Missense_Mutation_p.G1353R	p.G1353R	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN			16	4382	-	Breast(26;5.68e-08)		1353					A8MY65|B9EH82|E1P5I1|O15043|Q3ZTL7|Q3ZTL8|Q4VXS1|Q4VXS2|Q4VXV8|Q4VXV9|Q96D72|Q9BQW0|Q9BW03|Q9H4G6|Q9H4G7|Q9NTU8|Q9NUM8|Q9UFB6	Missense_Mutation	SNP	ENST00000266070.4	37	c.4057G>A	CCDS33506.1	.	.	.	.	.	.	.	.	.	.	C	14.78	2.637238	0.47049	.	.	ENSG00000101191	ENST00000266070;ENST00000395343	T;T	0.09073	3.02;3.02	5.4	3.04	0.35103	.	0.790616	0.10541	N	0.662729	T	0.11196	0.0273	M	0.75447	2.3	0.09310	N	0.999999	B	0.33841	0.428	B	0.24541	0.054	T	0.15093	-1.0449	10	0.62326	D	0.03	-24.5856	9.0535	0.36392	0.0:0.7258:0.0:0.2742	.	1353	Q9BTC0	DIDO1_HUMAN	R	1353	ENSP00000266070:G1353R;ENSP00000378752:G1353R	ENSP00000266070:G1353R	G	-	1	0	DIDO1	60983696	0.001000	0.12720	0.002000	0.10522	0.027000	0.11550	1.432000	0.34936	0.516000	0.28340	0.563000	0.77884	GGG		0.577	DIDO1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080091.2	NM_080796		7	83	0	0	0	1	0	7	83					T	61513251	C	T	61513251	3	4	424	1	0	0	0	0	1	0	0	0	4522	652	23	2	2669	2	DIDO1	20	61513251	Missense_Mutation	SNP	C	TCGA-X4-A8KS-01A-12D-A364-08	56413837	61513251	1512269	30	20533											
ARAF	369	broad.mit.edu	37	chrX	47428273	47428273	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cagctcatcgacgtggcccgGcagactgcccagggcatgga	8	5	14	14	3	1	1	1	0	0	1	2	3	1	2	2	4	2	3	2	4	0	0			TCGA-X4-A8KS-01A-12D-A364-08	TCGA-X4-A8KS-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82e2c88f-f5dd-441d-8a01-80d89c3f693d	a1004109-c2d6-4bb6-8dc9-d41d46ba165a	g.chrX:47428273G>A	ENST00000377045.4	+	11	1427	c.1233G>A	c.(1231-1233)cgG>cgA	p.R411R		NM_001256196.1|NM_001654.4	NP_001243125.1|NP_001645.1	P10398	ARAF_HUMAN	A-Raf proto-oncogene, serine/threonine kinase	411	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular protein modification process (GO:0006464)|negative regulation of apoptotic process (GO:0043066)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032434)|regulation of TOR signaling (GO:0032006)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein activity (GO:0005057)			biliary_tract(1)|endometrium(4)|large_intestine(7)|liver(2)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	29					Adenosine triphosphate(DB00171)	ACGTGGCCCGGCAGACTGCCC	0.637											OREG0019759	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000377045.4																			0				biliary_tract(1)|endometrium(4)|large_intestine(7)|liver(2)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	29						c.(1231-1233)cgG>cgA		v-raf murine sarcoma 3611 viral oncogene homolog	Adenosine triphosphate(DB00171)						34	26	29					X																	47428273		2203	4300	6503	SO:0001819	synonymous_variant	369				intracellular signal transduction|negative regulation of apoptosis|positive regulation of peptidyl-serine phosphorylation		ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|receptor signaling protein activity	g.chrX:47428273G>A	X04790	CCDS35232.1, CCDS59164.1, CCDS75970.1	Xp11.3-p11.23	2014-06-26	2014-06-26	2005-01-19	ENSG00000078061	ENSG00000078061			646	protein-coding gene	gene with protein product		311010	"v-raf murine sarcoma 3611 viral oncogene homolog 1"	ARAF1			Standard	NM_001654		Approved		uc004dic.2	P10398	OTTHUMG00000021446	ENST00000377045.4:c.1233G>A	X.37:g.47428273G>A			OREG0019759	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	946		p.R411R	NM_001256196.1|NM_001654.4	NP_001243125.1|NP_001645.1	P10398	ARAF_HUMAN			11	1427	+			411			Protein kinase.		P07557|Q5H9B2|Q5H9B3	Silent	SNP	ENST00000377045.4	37	c.1233G>A	CCDS35232.1																																																																																				0.637	ARAF-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056418.1			2	1	0	0	0	1	0	2	1					A	47428273	G	A	47428273	2	1	424	1	0	0	0	0	0	0	0	1	837	1190	42	3		3	ARAF	23	47428273	Silent	SNP	G	TCGA-X4-A8KS-01A-12D-A364-08		47428273	107842287	31	20534											
HNRNPH2	3188	broad.mit.edu	37	chrX	100667605	100667605	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tatgcagcggccaggtccctAtgataggccgggggctggca	7	7	16	11	2	0	1	0	1	0	0	1	1	1	1	3	6	2	3	3	6	3	3			TCGA-X4-A8KS-01A-12D-A364-08	TCGA-X4-A8KS-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82e2c88f-f5dd-441d-8a01-80d89c3f693d	a1004109-c2d6-4bb6-8dc9-d41d46ba165a	g.chrX:100667605A>G	ENST00000316594.5	+	2	707	c.629A>G	c.(628-630)tAt>tGt	p.Y210C		NM_001032393.2|NM_001199973.1|NM_001199974.1|NM_019597.4	NP_001027565.1|NP_001186902.1|NP_001186903.1|NP_062543.1	P55795	HNRH2_HUMAN	heterogeneous nuclear ribonucleoprotein H2 (H')	210					gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(3)|large_intestine(2)|lung(6)|skin(1)	12						CCAGGTCCCTATGATAGGCCG	0.552																																						ENST00000316594.5																			0				breast(3)|large_intestine(2)|lung(6)|skin(1)	12						c.(628-630)tAt>tGt		heterogeneous nuclear ribonucleoprotein H2 (H')							53	50	51					X																	100667605		2203	4300	6503	SO:0001583	missense	3188				nuclear mRNA splicing, via spliceosome	actin cytoskeleton|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|RNA binding	g.chrX:100667605A>G	U01923	CCDS14485.1	Xq22	2013-02-12		2008-04-18	ENSG00000126945	ENSG00000126945		"RNA binding motif (RRM) containing"	5042	protein-coding gene	gene with protein product		300610		HNRPH2		7499401	Standard	NM_019597		Approved	hnRNPH', FTP3, HNRPH'	uc004ehn.3	P55795	OTTHUMG00000022029	ENST00000316594.5:c.629A>G	X.37:g.100667605A>G	ENSP00000361927:p.Tyr210Cys						p.Y210C	NM_001032393.2|NM_001199973.1|NM_001199974.1|NM_019597.4	NP_001027565.1|NP_001186902.1|NP_001186903.1|NP_062543.1	P55795	HNRH2_HUMAN			2	707	+			210					A1L400|Q9HHA7	Missense_Mutation	SNP	ENST00000316594.5	37	c.629A>G	CCDS14485.1	.	.	.	.	.	.	.	.	.	.	A	12.29	1.893613	0.33442	.	.	ENSG00000126945	ENST00000457902;ENST00000316594	T	0.13420	2.59	4.88	4.88	0.63580	.	0.000000	0.85682	D	0.000000	T	0.18759	0.0450	M	0.71296	2.17	0.80722	D	1	B	0.14805	0.011	B	0.20384	0.029	T	0.02728	-1.1118	10	0.87932	D	0	-6.1163	11.5545	0.50739	1.0:0.0:0.0:0.0	.	210	P55795	HNRH2_HUMAN	C	165;210	ENSP00000361927:Y210C	ENSP00000361927:Y210C	Y	+	2	0	HNRNPH2	100554261	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.204000	0.77872	1.930000	0.55929	0.417000	0.27973	TAT		0.552	HNRNPH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057556.1	NM_019597		4	24	0	0	0	1	0	4	24					G	100667605	A	G	100667605	3	3	424	1	0	0	0	0	1	0	0	0	7267	449	16	4	631	4	HNRNPH2	23	100667605	Missense_Mutation	SNP	A	TCGA-X4-A8KS-01A-12D-A364-08	53239332	100667605	54602955	32	20535											
MYSM1	114803	broad.mit.edu	37	chr1	59126842	59126842	+	Splice_Site	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttaaaatgaagacagcttacTttctgcaaacaagtcaggtc	15	11	7	8	0	2	2	1	1	1	1	3	2	2	2	0	1	4	2	0	1	6	3			TCGA-XA-A8JR-01A-11D-A364-08	TCGA-XA-A8JR-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6df7e9e-c584-4526-afb2-fa4b5199b174	814a1d39-a0af-491b-bb21-8afa1dd84729	g.chr1:59126842T>G	ENST00000472487.1	-	19	2367	c.2328A>C	c.(2326-2328)aaA>aaC	p.K776N	MYSM1_ENST00000493821.1_5'UTR	NM_001085487.2	NP_001078956.1	Q5VVJ2	MYSM1_HUMAN	Myb-like, SWIRM and MPN domains 1	776					chromatin remodeling (GO:0006338)|monoubiquitinated histone H2A deubiquitination (GO:0035522)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone binding (GO:0042393)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|protein complex binding (GO:0032403)|transcription coactivator activity (GO:0003713)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_cancers(7;9.36e-06)					GACAGCTTACTTTCTGCAAAC	0.378																																						ENST00000472487.1																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						c.e19+1		Myb-like, SWIRM and MPN domains 1							90	86	87					1																	59126842		1834	4083	5917	SO:0001630	splice_region_variant	114803				histone deubiquitination|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromatin remodeling complex	DNA binding|histone binding|metal ion binding|metallopeptidase activity|transcription coactivator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr1:59126842T>G	AB067502	CCDS41343.1	1p32.1	2009-02-11	2009-02-11		ENSG00000162601	ENSG00000162601			29401	protein-coding gene	gene with protein product		612176				11572484, 17428495, 17707232	Standard	NM_001085487		Approved	KIAA1915	uc009wab.2	Q5VVJ2	OTTHUMG00000009533	ENST00000472487.1:c.2328+1A>C	1.37:g.59126842T>G						MYSM1_ENST00000493821.1_5'UTR	p.K776_splice	NM_001085487.2	NP_001078956.1	Q5VVJ2	MYSM1_HUMAN			19	2367	-	all_cancers(7;9.36e-06)		776					A8KA54|B3KX65|Q68DD3|Q6AI53|Q7Z3G8|Q96PX3	Splice_Site	SNP	ENST00000472487.1	37	c.2328_splice	CCDS41343.1	.	.	.	.	.	.	.	.	.	.	T	19.42	3.824209	0.71143	.	.	ENSG00000162601	ENST00000472487	T	0.37752	1.18	5.16	5.16	0.70880	.	0.000000	0.85682	D	0.000000	T	0.55545	0.1927	M	0.63843	1.955	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.54801	-0.8239	9	.	.	.	-25.2304	12.8614	0.57915	0.0:0.0:0.0:1.0	.	776	Q5VVJ2	MYSM1_HUMAN	N	776	ENSP00000418734:K776N	.	K	-	3	2	MYSM1	58899430	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.746000	0.38288	2.171000	0.68590	0.455000	0.32223	AAA		0.378	MYSM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026343.2	XM_055481	Missense_Mutation	5	27	0	0	0	1	0	5	27					G	59126842	T	G	59126842	5	3	425	1	0	0	0	0	0	0	1	0	10101	1623	56	5	166	5	MYSM1	1	59126842	Splice_Site	SNP	T	TCGA-XA-A8JR-01A-11D-A364-08		59126842	190123779	1	20536											
DISP1	84976	broad.mit.edu	37	chr1	223178296	223178296	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcccaggggcccaaaatctgAactggagcatgagttttatg	11	10	11	9	0	1	2	0	2	1	0	2	3	2	3	2	3	2	2	2	3	4	2			TCGA-XA-A8JR-01A-11D-A364-08	TCGA-XA-A8JR-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6df7e9e-c584-4526-afb2-fa4b5199b174	814a1d39-a0af-491b-bb21-8afa1dd84729	g.chr1:223178296A>T	ENST00000284476.6	+	8	3721	c.3557A>T	c.(3556-3558)gAa>gTa	p.E1186V		NM_032890.3	NP_116279.2	Q96F81	DISP1_HUMAN	dispatched homolog 1 (Drosophila)	1186					determination of left/right symmetry (GO:0007368)|diaphragm development (GO:0060539)|dorsal/ventral pattern formation (GO:0009953)|embryonic pattern specification (GO:0009880)|patched ligand maturation (GO:0007225)|peptide transport (GO:0015833)|protein homotrimerization (GO:0070207)|regulation of protein secretion (GO:0050708)|smoothened signaling pathway (GO:0007224)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)	hedgehog receptor activity (GO:0008158)|peptide transporter activity (GO:0015197)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(20)|lung(25)|prostate(4)|skin(1)|stomach(1)|urinary_tract(5)	69				GBM - Glioblastoma multiforme(131;0.102)		CCAAAATCTGAACTGGAGCAT	0.458																																						ENST00000284476.6																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(20)|lung(25)|prostate(4)|skin(1)|stomach(1)|urinary_tract(5)	69						c.(3556-3558)gAa>gTa		dispatched homolog 1 (Drosophila)							71	76	74					1																	223178296		2203	4300	6503	SO:0001583	missense	84976				diaphragm development|protein homotrimerization|regulation of protein secretion|smoothened signaling pathway	basolateral plasma membrane|integral to membrane	hedgehog receptor activity|peptide transporter activity	g.chr1:223178296A>T	AK056569	CCDS1536.1	1q42.12	2008-02-05			ENSG00000154309	ENSG00000154309			19711	protein-coding gene	gene with protein product		607502				10619433	Standard	NM_032890		Approved	DISPA, MGC13130, DKFZP434I0428, MGC16796	uc001hnu.2	Q96F81	OTTHUMG00000037893	ENST00000284476.6:c.3557A>T	1.37:g.223178296A>T	ENSP00000284476:p.Glu1186Val						p.E1186V	NM_032890.3	NP_116279.2	Q96F81	DISP1_HUMAN		GBM - Glioblastoma multiforme(131;0.102)	8	3721	+			1186					Q8N7C2|Q96I92|Q9H698|Q9H8H9|Q9UFA2	Missense_Mutation	SNP	ENST00000284476.6	37	c.3557A>T	CCDS1536.1	.	.	.	.	.	.	.	.	.	.	A	14.88	2.668847	0.47677	.	.	ENSG00000154309	ENST00000284476	D	0.92495	-3.05	5.75	5.75	0.90469	.	0.229203	0.42682	D	0.000663	D	0.87309	0.6145	L	0.29908	0.895	0.39314	D	0.965136	B	0.28128	0.201	B	0.25140	0.058	D	0.85151	0.0986	10	0.34782	T	0.22	-12.0102	16.0577	0.80817	1.0:0.0:0.0:0.0	.	1186	Q96F81	DISP1_HUMAN	V	1186	ENSP00000284476:E1186V	ENSP00000284476:E1186V	E	+	2	0	DISP1	221244919	1.000000	0.71417	0.034000	0.17996	0.920000	0.55202	6.588000	0.74076	2.197000	0.70478	0.459000	0.35465	GAA		0.458	DISP1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092512.1	NM_032890		5	59	0	0	0	1	0	5	59					T	223178296	A	T	223178296	3	4	425	1	0	0	0	0	1	0	0	0	4539	246	9	5	3583	5	DISP1	1	223178296	Missense_Mutation	SNP	A	TCGA-XA-A8JR-01A-11D-A364-08	164051454	223178296	26072325	2	20537											
LYST	1130	broad.mit.edu	37	chr1	235933474	235933482	+	In_Frame_Del	DEL	AAGTCAGTA	AAGTCAGTA	-																															aagtacctgcaaaacctgacAagtcagtagaaagtgatgaa																										TCGA-XA-A8JR-01A-11D-A364-08	TCGA-XA-A8JR-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6df7e9e-c584-4526-afb2-fa4b5199b174	814a1d39-a0af-491b-bb21-8afa1dd84729	g.chr1:235933474_235933482delAAGTCAGTA	ENST00000389794.3	-	20	6074_6082	c.5900_5908delTACTGACTT	c.(5899-5910)ctactgacttgt>cgt	p.1967_1970LLTC>R	LYST_ENST00000389793.2_In_Frame_Del_p.1967_1970LLTC>R|LYST_ENST00000536965.1_3'UTR			Q99698	LYST_HUMAN	lysosomal trafficking regulator	1967					blood coagulation (GO:0007596)|defense response to bacterium (GO:0042742)|defense response to protozoan (GO:0042832)|defense response to virus (GO:0051607)|endosome to lysosome transport via multivesicular body sorting pathway (GO:0032510)|leukocyte chemotaxis (GO:0030595)|lysosome organization (GO:0007040)|mast cell secretory granule organization (GO:0033364)|melanosome organization (GO:0032438)|microtubule-based process (GO:0007017)|natural killer cell mediated cytotoxicity (GO:0042267)|neutrophil mediated immunity (GO:0002446)|phospholipid homeostasis (GO:0055091)|phospholipid metabolic process (GO:0006644)|pigmentation (GO:0043473)|positive regulation of natural killer cell activation (GO:0032816)|response to drug (GO:0042493)|secretion of lysosomal enzymes (GO:0033299)|T cell mediated immunity (GO:0002456)	cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)		p.L1968L(1)		NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			AAAACCTGACAAGTCAGTAGAAAGTGATG	0.354																																						ENST00000389794.3																			1	Substitution - coding silent(1)	p.L1968L(1)	lung(1)	NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162						c.(5899-5910)cgt>c		lysosomal trafficking regulator																																				SO:0001651	inframe_deletion	1130				defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding	g.chr1:235933474_235933482delAAGTCAGTA	U70064	CCDS31062.1	1q42.1-q42.2	2014-09-17	2004-12-09	2004-12-10	ENSG00000143669	ENSG00000143669		"WD repeat domain containing"	1968	protein-coding gene	gene with protein product		606897	"Chediak-Higashi syndrome 1"	CHS1		8717042, 8896560	Standard	NM_000081		Approved	CHS	uc001hxj.3	Q99698	OTTHUMG00000040527	ENST00000389794.3:c.5900_5908delTACTGACTT	1.37:g.235933474_235933482delAAGTCAGTA	ENSP00000374444:p.Leu1967_Cys1970delinsArg					LYST_ENST00000389793.2_In_Frame_Del_p.LLTC1967del|LYST_ENST00000536965.1_3'UTR	p.LLTC1967del			Q99698	LYST_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.000674)		20	6074_6082	-	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	1967					O43274|Q5T2U9|Q96TD7|Q96TD8|Q99709|Q9H133	In_Frame_Del	DEL	ENST00000389794.3	37	c.5900_5908delTACTGACTT	CCDS31062.1																																																																																				0.354	LYST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097533.5			7	108						7	108	---	---	---	---	-	235933482	AAGTCAGTA	-	235933474	7	5	425	1	0	1	0	1	0	0	0	0	9128	130	5	0	5633	0	LYST	1	235933474	In_Frame_Del	DEL	AAGTCAGTA	TCGA-XA-A8JR-01A-11D-A364-08	12755178	235933474	13317147	3	20538											
ZNF512	84450	broad.mit.edu	37	chr2	27838080	27838080	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctaccttcagccaggaagtaCtacataaatggaagacagat	16	8	8	9	0	1	2	1	0	0	2	1	4	1	4	2	2	4	1	2	2	7	5			TCGA-XA-A8JR-01A-11D-A364-08	TCGA-XA-A8JR-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6df7e9e-c584-4526-afb2-fa4b5199b174	814a1d39-a0af-491b-bb21-8afa1dd84729	g.chr2:27838080C>G	ENST00000355467.4	+	11	1260	c.1177C>G	c.(1177-1179)Cta>Gta	p.L393V	ZNF512_ENST00000413371.2_Missense_Mutation_p.L316V|ZNF512_ENST00000379717.1_Missense_Mutation_p.L392V|RP11-158I13.2_ENST00000505973.1_RNA|ZNF512_ENST00000556601.1_Missense_Mutation_p.L262V|ZNF512_ENST00000416005.2_Missense_Mutation_p.L364V	NM_001271287.1|NM_001271288.1|NM_001271289.1|NM_001271318.1|NM_032434.3	NP_001258216.1|NP_001258217.1|NP_001258218.1|NP_001258247.1|NP_115810.2	Q96ME7	ZN512_HUMAN	zinc finger protein 512	393					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	Acute lymphoblastic leukemia(172;0.155)					CCAGGAAGTACTACATAAATG	0.358																																						ENST00000355467.4																			0				breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						c.(1177-1179)Cta>Gta		zinc finger protein 512							188	181	183					2																	27838080		2203	4300	6503	SO:0001583	missense	84450				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr2:27838080C>G	AL833748	CCDS1758.1, CCDS59428.1, CCDS59429.1	2p23	2008-02-05			ENSG00000243943	ENSG00000243943		"Zinc fingers, C2H2-type"	29380	protein-coding gene	gene with protein product						11347906	Standard	NM_032434		Approved	KIAA1805	uc002rla.4	Q96ME7	OTTHUMG00000097786	ENST00000355467.4:c.1177C>G	2.37:g.27838080C>G	ENSP00000347648:p.Leu393Val					ZNF512_ENST00000416005.2_Missense_Mutation_p.L364V|ZNF512_ENST00000413371.2_Missense_Mutation_p.L316V|ZNF512_ENST00000556601.1_Missense_Mutation_p.L262V|RP11-158I13.2_ENST00000505973.1_RNA|ZNF512_ENST00000379717.1_Missense_Mutation_p.L392V	p.L393V			Q96ME7	ZN512_HUMAN			11	1260	+	Acute lymphoblastic leukemia(172;0.155)		393					B4DSM5|Q53RZ7|Q86XK6|Q96JM0	Missense_Mutation	SNP	ENST00000355467.4	37	c.1177C>G	CCDS1758.1	.	.	.	.	.	.	.	.	.	.	C	18.36	3.607667	0.66558	.	.	ENSG00000243943	ENST00000379717;ENST00000355467;ENST00000556601;ENST00000416005;ENST00000413371	.	.	.	6.03	3.3	0.37823	.	0.000000	0.64402	D	0.000001	T	0.67477	0.2897	M	0.62723	1.935	0.42771	D	0.993834	D;D;D	0.69078	0.993;0.997;0.997	D;D;D	0.78314	0.987;0.991;0.991	T	0.63769	-0.6562	9	0.25106	T	0.35	-10.7102	8.7121	0.34389	0.0:0.7666:0.0:0.2334	.	288;364;393	B4DES6;B4DSM5;Q96ME7	.;.;ZN512_HUMAN	V	392;393;262;364;316	.	ENSP00000347648:L393V	L	+	1	2	ZNF512	27691584	0.996000	0.38824	0.396000	0.26296	0.923000	0.55619	2.342000	0.43992	0.892000	0.36259	-0.126000	0.14955	CTA		0.358	ZNF512-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000215029.2	NM_032434		3	62	0	0	0	1	0	3	62					G	27838080	C	G	27838080	3	3	425	1	0	0	0	0	1	0	0	0	17953	564	20	5	1219	5	ZNF512	2	27838080	Missense_Mutation	SNP	C	TCGA-XA-A8JR-01A-11D-A364-08		27838080	215361293	4	20539											
CDC42EP3	10602	broad.mit.edu	37	chr2	37873410	37873410	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cctccaatggtcgggagggaGatggcatttttgagcaccgg	8	9	15	9	2	0	2	0	1	0	1	2	4	1	3	3	5	1	2	3	5	1	2			TCGA-XA-A8JR-01A-11D-A364-08	TCGA-XA-A8JR-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6df7e9e-c584-4526-afb2-fa4b5199b174	814a1d39-a0af-491b-bb21-8afa1dd84729	g.chr2:37873410G>C	ENST00000295324.3	-	2	1321	c.321C>G	c.(319-321)atC>atG	p.I107M	AC006369.2_ENST00000419425.1_RNA	NM_001270436.1|NM_001270437.1|NM_001270438.1|NM_006449.4	NP_001257365.1|NP_001257366.1|NP_001257367.1|NP_006440.2	Q9UKI2	BORG2_HUMAN	CDC42 effector protein (Rho GTPase binding) 3	107					regulation of cell shape (GO:0008360)|signal transduction (GO:0007165)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|membrane (GO:0016020)	cytoskeletal regulatory protein binding (GO:0005519)			endometrium(1)|large_intestine(3)|lung(5)|pancreas(1)|prostate(1)	11		all_hematologic(82;0.172)				TCGGGAGGGAGATGGCATTTT	0.547																																						ENST00000295324.3																			0				endometrium(1)|large_intestine(3)|lung(5)|pancreas(1)|prostate(1)	11						c.(319-321)atC>atG		CDC42 effector protein (Rho GTPase binding) 3							86	87	87					2																	37873410		2203	4300	6503	SO:0001583	missense	10602				regulation of cell shape|signal transduction	actin cytoskeleton|cytoplasm|endomembrane system|membrane	cytoskeletal regulatory protein binding	g.chr2:37873410G>C	AF094521	CCDS1791.1	2p21	2008-05-21			ENSG00000163171	ENSG00000163171			16943	protein-coding gene	gene with protein product		606133				9535835, 11035016	Standard	NM_001270436		Approved	CEP3, UB1, BORG2	uc031rnz.1	Q9UKI2	OTTHUMG00000100971	ENST00000295324.3:c.321C>G	2.37:g.37873410G>C	ENSP00000295324:p.Ile107Met					AC006369.2_ENST00000419425.1_RNA	p.I107M	NM_001270436.1|NM_001270437.1|NM_001270438.1|NM_006449.3	NP_001257365.1|NP_001257366.1|NP_001257367.1|NP_006440.2	Q9UKI2	BORG2_HUMAN			2	1321	-		all_hematologic(82;0.172)	107					B2R8S0|O95353|Q9UQJ0	Missense_Mutation	SNP	ENST00000295324.3	37	c.321C>G	CCDS1791.1	.	.	.	.	.	.	.	.	.	.	G	17.99	3.522248	0.64747	.	.	ENSG00000163171	ENST00000295324;ENST00000457889	T;T	0.39229	1.09;1.09	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	T	0.59851	0.2224	M	0.68593	2.085	0.53005	D	0.999963	D	0.71674	0.998	D	0.78314	0.991	T	0.57849	-0.7740	10	0.41790	T	0.15	.	11.1023	0.48182	0.0829:0.0:0.9171:0.0	.	107	Q9UKI2	BORG2_HUMAN	M	107	ENSP00000295324:I107M;ENSP00000403298:I107M	ENSP00000295324:I107M	I	-	3	3	CDC42EP3	37726914	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.952000	0.49097	2.793000	0.96121	0.655000	0.94253	ATC		0.547	CDC42EP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218581.3	NM_006449		6	53	0	0	0	1	0	6	53					C	37873410	G	C	37873410	3	2	425	1	0	0	0	0	1	0	0	0	3077	932	33	5	447	5	CDC42EP3	2	37873410	Missense_Mutation	SNP	G	TCGA-XA-A8JR-01A-11D-A364-08	10035330	37873410	205325963	5	20540											
TSGA10	80705	broad.mit.edu	37	chr2	99681428	99681428	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacctctctgttgagggaatCtactttttcttttaatctgt	8	19	6	8	0	4	1	0	1	4	0	5	2	4	2	1	1	2	1	1	1	4	6	rs538030895		TCGA-XA-A8JR-01A-11D-A364-08	TCGA-XA-A8JR-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6df7e9e-c584-4526-afb2-fa4b5199b174	814a1d39-a0af-491b-bb21-8afa1dd84729	g.chr2:99681428C>A	ENST00000393483.3	-	16	2222	c.1378G>T	c.(1378-1380)Gat>Tat	p.D460Y	TSGA10_ENST00000410001.1_Missense_Mutation_p.D460Y|TSGA10_ENST00000539964.1_Missense_Mutation_p.D460Y|TSGA10_ENST00000478090.1_5'UTR|TSGA10_ENST00000355053.4_Missense_Mutation_p.D460Y	NM_025244.2	NP_079520.1	Q9BZW7	TSG10_HUMAN	testis specific, 10	460					cell projection assembly (GO:0030031)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|membrane (GO:0016020)|motile cilium (GO:0031514)|neuron projection (GO:0043005)|nucleus (GO:0005634)				NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	34						TTGAGGGAATCTACTTTTTCT	0.373																																						ENST00000393483.3																			0				NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	34						c.(1378-1380)Gat>Tat		testis specific, 10							141	133	136					2																	99681428		2203	4300	6503	SO:0001583	missense	80705				spermatogenesis	cytoplasm|nuclear membrane		g.chr2:99681428C>A	AF254756	CCDS2037.1	2q11.2	2009-08-06			ENSG00000135951	ENSG00000135951			14927	protein-coding gene	gene with protein product	"cancer/testis antigen 79"	607166				11179690	Standard	NM_025244		Approved	CEP4L, CT79	uc002szi.4	Q9BZW7	OTTHUMG00000130637	ENST00000393483.3:c.1378G>T	2.37:g.99681428C>A	ENSP00000377123:p.Asp460Tyr					TSGA10_ENST00000539964.1_Missense_Mutation_p.D460Y|TSGA10_ENST00000478090.1_5'UTR|TSGA10_ENST00000355053.4_Missense_Mutation_p.D460Y|TSGA10_ENST00000410001.1_Missense_Mutation_p.D460Y	p.D460Y	NM_025244.2	NP_079520.1	Q9BZW7	TSG10_HUMAN			16	2222	-			460					B7Z925|D3DVH7|Q8NEP0|Q9BWX0	Missense_Mutation	SNP	ENST00000393483.3	37	c.1378G>T	CCDS2037.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.152335	0.78001	.	.	ENSG00000135951	ENST00000393483;ENST00000410001;ENST00000355053;ENST00000539964;ENST00000409564;ENST00000393482	T;T;T;T;T;T	0.80123	2.47;2.47;2.47;2.47;-1.34;2.47	5.3	5.3	0.74995	.	0.153691	0.42682	D	0.000663	T	0.80439	0.4623	L	0.38175	1.15	0.80722	D	1	P	0.51537	0.946	P	0.50708	0.648	T	0.82287	-0.0532	10	0.66056	D	0.02	-17.3017	16.4811	0.84158	0.0:1.0:0.0:0.0	.	460	Q9BZW7	TSG10_HUMAN	Y	460	ENSP00000377123:D460Y;ENSP00000386956:D460Y;ENSP00000347161:D460Y;ENSP00000444419:D460Y;ENSP00000386508:D460Y;ENSP00000377122:D460Y	ENSP00000347161:D460Y	D	-	1	0	TSGA10	99047860	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.260000	0.51523	2.767000	0.95098	0.585000	0.79938	GAT		0.373	TSGA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253125.1	NM_182911		7	52	1	0	0.00448238	1	0.00461045	7	52					A	99681428	C	A	99681428	3	1	425	1	0	0	0	0	1	0	0	0	16614	913	32	5	742	5	TSGA10	2	99681428	Missense_Mutation	SNP	C	TCGA-XA-A8JR-01A-11D-A364-08	61808018	99681428	143517945	6	20541											
XRN1	54464	broad.mit.edu	37	chr3	142151666	142151666	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aattctaaagtgaacatcatCatcattaggatgggagcact	15	11	8	7	0	4	1	3	1	1	0	4	3	4	3	0	2	2	1	0	2	5	3			TCGA-XA-A8JR-01A-11D-A364-08	TCGA-XA-A8JR-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6df7e9e-c584-4526-afb2-fa4b5199b174	814a1d39-a0af-491b-bb21-8afa1dd84729	g.chr3:142151666C>T	ENST00000264951.4	-	2	262	c.145G>A	c.(145-147)Gat>Aat	p.D49N	XRN1_ENST00000465074.1_5'Flank|XRN1_ENST00000544157.1_5'UTR|XRN1_ENST00000392981.2_Missense_Mutation_p.D49N|XRN1_ENST00000463916.1_Missense_Mutation_p.D49N	NM_019001.3	NP_061874.3	Q8IZH2	XRN1_HUMAN	5'-3' exoribonuclease 1	49					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|histone mRNA catabolic process (GO:0071044)|mRNA metabolic process (GO:0016071)|nuclear mRNA surveillance (GO:0071028)|nuclear-transcribed mRNA catabolic process (GO:0000956)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)|rRNA catabolic process (GO:0016075)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|membrane (GO:0016020)	5'-3' exonuclease activity (GO:0008409)|DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(3)|endometrium(6)|kidney(12)|large_intestine(11)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	61						TGAACATCATCATCATTAGGA	0.333																																						ENST00000264951.4																			0				NS(1)|breast(3)|endometrium(6)|kidney(12)|large_intestine(11)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	61						c.(145-147)Gat>Aat		5'-3' exoribonuclease 1							69	69	69					3																	142151666		2203	4300	6503	SO:0001583	missense	54464				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|histone mRNA catabolic process|nuclear mRNA surveillance|rRNA catabolic process	cytosol|Golgi apparatus|intermediate filament cytoskeleton|plasma membrane	5'-3' exonuclease activity|DNA binding|protein binding|RNA binding	g.chr3:142151666C>T	AY137776	CCDS3123.1, CCDS63801.1, CCDS75028.1	3q23	2008-02-05			ENSG00000114127	ENSG00000114127			30654	protein-coding gene	gene with protein product		607994				12515382	Standard	XM_005247544		Approved	SEP1	uc003eus.3	Q8IZH2	OTTHUMG00000159251	ENST00000264951.4:c.145G>A	3.37:g.142151666C>T	ENSP00000264951:p.Asp49Asn					XRN1_ENST00000544157.1_5'UTR|XRN1_ENST00000392981.2_Missense_Mutation_p.D49N|XRN1_ENST00000463916.1_Missense_Mutation_p.D49N	p.D49N	NM_019001.3	NP_061874.3	Q8IZH2	XRN1_HUMAN			2	262	-			49					Q4G0S3|Q68D88|Q6AI24|Q6MZS8|Q86WS7|Q8N8U4|Q9UF39	Missense_Mutation	SNP	ENST00000264951.4	37	c.145G>A	CCDS3123.1	.	.	.	.	.	.	.	.	.	.	C	15.32	2.797259	0.50208	.	.	ENSG00000114127	ENST00000264951;ENST00000392981;ENST00000463916	T;T	0.30448	1.54;1.53	6.04	6.04	0.98038	Putative 5-3 exonuclease (1);	0.047522	0.85682	D	0.000000	T	0.32852	0.0843	L	0.36672	1.1	0.80722	D	1	B;B;B	0.25719	0.016;0.109;0.132	B;B;B	0.32393	0.01;0.09;0.145	T	0.03364	-1.1044	10	0.38643	T	0.18	-20.8573	20.5792	0.99380	0.0:1.0:0.0:0.0	.	49;49;49	Q8IZH2-3;Q8IZH2-2;Q8IZH2	.;.;XRN1_HUMAN	N	49	ENSP00000264951:D49N;ENSP00000376707:D49N	ENSP00000264951:D49N	D	-	1	0	XRN1	143634356	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	5.989000	0.70587	2.873000	0.98535	0.561000	0.74099	GAT		0.333	XRN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000354087.2	NM_019001		5	58	0	0	0	1	0	5	58					T	142151666	C	T	142151666	3	4	425	1	0	0	0	0	1	0	0	0	17456	826	29	3	5139	3	XRN1	3	142151666	Missense_Mutation	SNP	C	TCGA-XA-A8JR-01A-11D-A364-08		142151666	55870764	7	20542											
SEPT11	55752	broad.mit.edu	37	chr4	77941726	77941726	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcgtgaacatggaggacttgCgagagcagactcacacccgc	11	5	13	12	3	1	3	1	1	0	2	1	6	1	5	1	2	3	1	1	2	1	1	rs377563788		TCGA-XA-A8JR-01A-11D-A364-08	TCGA-XA-A8JR-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6df7e9e-c584-4526-afb2-fa4b5199b174	814a1d39-a0af-491b-bb21-8afa1dd84729	g.chr4:77941726C>T	ENST00000264893.6	+	7	1057	c.856C>T	c.(856-858)Cga>Tga	p.R286*	SEPT11_ENST00000505788.1_Nonsense_Mutation_p.R286*|SEPT11_ENST00000541121.1_Nonsense_Mutation_p.R296*|SEPT11_ENST00000510515.1_Nonsense_Mutation_p.R296*|SEPT11_ENST00000502584.1_Nonsense_Mutation_p.R286*|SEPT11_ENST00000512575.1_Intron	NM_018243.2	NP_060713.1	Q9NVA2	SEP11_HUMAN	septin 11	286	Septin-type G.				cell cycle (GO:0007049)|cell division (GO:0051301)|protein heterooligomerization (GO:0051291)	cell junction (GO:0030054)|cell projection (GO:0042995)|extracellular vesicular exosome (GO:0070062)|septin complex (GO:0031105)|stress fiber (GO:0001725)|synapse (GO:0045202)	GTP binding (GO:0005525)			endometrium(2)|kidney(3)|large_intestine(3)|lung(1)|skin(1)|stomach(1)	11						GGAGGACTTGCGAGAGCAGAC	0.493																																						ENST00000264893.6																			0				endometrium(2)|kidney(3)|large_intestine(3)|lung(1)|skin(1)|stomach(1)	11						c.(856-858)Cga>Tga		septin 11							86	75	79					4																	77941726		2203	4300	6503	SO:0001587	stop_gained	55752				cell cycle|cell division|protein heterooligomerization	axon|cell junction|dendritic spine|septin complex|stress fiber|synapse	GTP binding|protein binding	g.chr4:77941726C>T	AK001711	CCDS34018.1	4q21.1	2013-01-21			ENSG00000138758	ENSG00000138758		"Septins"	25589	protein-coding gene	gene with protein product		612887				14999297, 15140406	Standard	NM_018243		Approved	FLJ10849	uc003hkj.3	Q9NVA2	OTTHUMG00000160854	ENST00000264893.6:c.856C>T	4.37:g.77941726C>T	ENSP00000264893:p.Arg286*					SEPT11_ENST00000502584.1_Nonsense_Mutation_p.R286*|SEPT11_ENST00000505788.1_Nonsense_Mutation_p.R286*|SEPT11_ENST00000512575.1_Intron|SEPT11_ENST00000510515.1_Nonsense_Mutation_p.R296*|SEPT11_ENST00000541121.1_Nonsense_Mutation_p.R296*	p.R286*	NM_018243.2	NP_060713.1	Q9NVA2	SEP11_HUMAN			7	1057	+			286					B7Z7Z6|E9KL32|Q4W5G1|Q7L4N1|Q96SP1|Q9UFY9	Nonsense_Mutation	SNP	ENST00000264893.6	37	c.856C>T	CCDS34018.1	.	.	.	.	.	.	.	.	.	.	C	38	7.212010	0.98139	.	.	ENSG00000138758	ENST00000264893;ENST00000502584;ENST00000510641;ENST00000505788;ENST00000510515;ENST00000541121	.	.	.	5.44	2.36	0.29203	.	0.091877	0.43919	D	0.000516	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.6562	0.77136	0.4727:0.5273:0.0:0.0	.	.	.	.	X	286;286;278;286;296;296	.	ENSP00000264893:R286X	R	+	1	2	SEPT11	78160750	0.990000	0.36364	0.879000	0.34478	0.996000	0.88848	0.300000	0.19156	0.624000	0.30286	0.591000	0.81541	CGA		0.493	SEPT11-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000362676.1	NM_018243		4	15	0	0	0	1	0	4	15					T	77941726	C	T	77941726	4	4	425	1	0	0	0	0	0	1	0	0	14061	760	27	1	882	1	SEPT11	4	77941726	Nonsense_Mutation	SNP	C	TCGA-XA-A8JR-01A-11D-A364-08		77941726	113212550	8	20543											
CCDC110	256309	broad.mit.edu	37	chr4	186392098	186392098	+	Splice_Site	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tttacggtctggcgattttaCctgtgtcactgcagccactt	6	15	9	11	2	2	0	1	0	1	0	2	1	2	0	2	2	4	1	2	2	2	5			TCGA-XA-A8JR-01A-11D-A364-08	TCGA-XA-A8JR-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6df7e9e-c584-4526-afb2-fa4b5199b174	814a1d39-a0af-491b-bb21-8afa1dd84729	g.chr4:186392098C>G	ENST00000307588.3	-	2	191		c.e2+1		CCDC110_ENST00000393540.3_Splice_Site|RP11-279O9.4_ENST00000512874.1_5'Flank|CCDC110_ENST00000510617.1_Splice_Site|CCDC110_ENST00000507501.1_Splice_Site	NM_152775.3	NP_689988.1	Q8TBZ0	CC110_HUMAN	coiled-coil domain containing 110							nucleus (GO:0005634)				NS(1)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(9)	30		all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;7.86e-05)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|Colorectal(36;0.0381)|all_hematologic(60;0.0749)		OV - Ovarian serous cystadenocarcinoma(60;1.13e-10)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.00014)|STAD - Stomach adenocarcinoma(60;0.000777)|LUSC - Lung squamous cell carcinoma(40;0.00921)|COAD - Colon adenocarcinoma(29;0.0105)|READ - Rectum adenocarcinoma(43;0.164)		GGCGATTTTACCTGTGTCACT	0.552																																						ENST00000307588.3																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(9)	30						c.e2+1		coiled-coil domain containing 110							146	136	139					4																	186392098		2203	4300	6503	SO:0001630	splice_region_variant	256309					nucleus		g.chr4:186392098C>G	AB080722	CCDS3843.1, CCDS47170.1	4q35.1	2010-12-24			ENSG00000168491	ENSG00000168491			28504	protein-coding gene	gene with protein product	"cancer/testis antigen 52"	609488				18160854	Standard	NM_152775		Approved	KM-HN-1, MGC33607, CT52	uc003ixu.4	Q8TBZ0	OTTHUMG00000160415	ENST00000307588.3:c.115+1G>C	4.37:g.186392098C>G						CCDC110_ENST00000510617.1_Splice_Site|CCDC110_ENST00000507501.1_Splice_Site|CCDC110_ENST00000393540.3_Splice_Site		NM_152775.3	NP_689988.1	Q8TBZ0	CC110_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.13e-10)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.00014)|STAD - Stomach adenocarcinoma(60;0.000777)|LUSC - Lung squamous cell carcinoma(40;0.00921)|COAD - Colon adenocarcinoma(29;0.0105)|READ - Rectum adenocarcinoma(43;0.164)	2	191	-		all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;7.86e-05)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|Colorectal(36;0.0381)|all_hematologic(60;0.0749)						Q86YI9|Q8N7W0	Splice_Site	SNP	ENST00000307588.3	37		CCDS3843.1	.	.	.	.	.	.	.	.	.	.	C	7.296	0.612047	0.14066	.	.	ENSG00000168491	ENST00000393540;ENST00000307588;ENST00000510617;ENST00000506876	.	.	.	4.65	3.8	0.43715	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.027	0.42076	0.2013:0.7987:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CCDC110	186629092	1.000000	0.71417	0.996000	0.52242	0.008000	0.06430	3.245000	0.51407	1.152000	0.42452	-0.310000	0.09108	.		0.552	CCDC110-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000360519.2	NM_152775	Intron	35	123	0	0	0	1	0	35	123					G	186392098	C	G	186392098	5	3	425	1	0	0	0	0	0	0	1	0	2747	521	18	5	2409	5	CCDC110	4	186392098	Splice_Site	SNP	C	TCGA-XA-A8JR-01A-11D-A364-08	108450372	186392098	4762178	9	20544											
PCDHA7	56141	broad.mit.edu	37	chr5	140215957	140215957	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctcgctgacagccacagcCaccgtgctggtgtcgctggt	5	8	12	16	3	0	1	0	1	0	0	2	1	0	1	4	2	3	3	4	2	0	0	rs558442824		TCGA-XA-A8JR-01A-11D-A364-08	TCGA-XA-A8JR-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6df7e9e-c584-4526-afb2-fa4b5199b174	814a1d39-a0af-491b-bb21-8afa1dd84729	g.chr5:140215957C>T	ENST00000525929.1	+	1	1989	c.1989C>T	c.(1987-1989)gcC>gcT	p.A663A	PCDHA6_ENST00000529310.1_Intron|PCDHA7_ENST00000378125.3_Silent_p.A663A|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron	NM_018910.2	NP_061733.1	Q9UN72	PCDA7_HUMAN	protocadherin alpha 7	663	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.		A -> G (in dbSNP:rs6880234).		cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAGCCACAGCCACCGTGCTGG	0.652																																					NSCLC(160;258 2013 5070 22440 28951)	ENST00000525929.1																			0				NS(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63						c.(1987-1989)gcC>gcT									63	66	65					5																	140215957		2203	4298	6501	SO:0001819	synonymous_variant	0							g.chr5:140215957C>T	AF152485	CCDS54918.1	5q31	2010-11-26				ENSG00000204963		"Cadherins / Protocadherins : Clustered"	8673	other	complex locus constituent	"KIAA0345-like 7", "ortholog to mouse CNR4"	606313		CNRS4		10380929, 10662547	Standard	NM_018910		Approved	CNR4, CRNR4		Q9UN72		ENST00000525929.1:c.1989C>T	5.37:g.140215957C>T						PCDHA7_ENST00000378125.3_Silent_p.A663A|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron	p.A663A	NM_018910.2	NP_061733.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1989	+								O75282	Silent	SNP	ENST00000525929.1	37	c.1989C>T	CCDS54918.1																																																																																				0.652	PCDHA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372887.2	NM_018910		9	49	0	0	0	1	0	9	49					T	140215957	C	T	140215957	2	4	425	1	0	0	0	0	0	0	0	1	11529	581	21	3		3	PCDHA7	5	140215957	Silent	SNP	C	TCGA-XA-A8JR-01A-11D-A364-08		140215957	40699303	10	20545											
RREB1	6239	broad.mit.edu	37	chr6	7240690	7240690	+	Intron	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtcagaaacccttcccttgTcaaaaatgcgatgccttctt	10	12	7	12	1	3	1	2	0	1	1	4	2	4	1	3	1	3	0	3	1	3	4			TCGA-XA-A8JR-01A-11D-A364-08	TCGA-XA-A8JR-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6df7e9e-c584-4526-afb2-fa4b5199b174	814a1d39-a0af-491b-bb21-8afa1dd84729	g.chr6:7240690T>A	ENST00000349384.6	+	11	4122				RREB1_ENST00000379933.3_Intron|RREB1_ENST00000334984.6_Nonsense_Mutation_p.C1276*|RREB1_ENST00000379938.2_Nonsense_Mutation_p.C1276*	NM_001003698.3	NP_001003698.1	Q92766	RREB1_HUMAN	ras responsive element binding protein 1						multicellular organismal development (GO:0007275)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|Ras protein signal transduction (GO:0007265)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear body (GO:0016604)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)				CCTTCCCTTGTCAAAAATGCG	0.413																																						ENST00000379938.2																			0				breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						c.(3826-3828)tgT>tgA		ras responsive element binding protein 1							109	108	108					6																	7240690		2203	4300	6503	SO:0001627	intron_variant	6239				multicellular organismal development|positive regulation of transcription, DNA-dependent|Ras protein signal transduction|transcription from RNA polymerase II promoter	cytoplasm|nuclear speck	DNA binding|zinc ion binding	g.chr6:7240690T>A	U26914	CCDS34335.1, CCDS34336.1, CCDS54963.1	6p25	2013-01-08			ENSG00000124782	ENSG00000124782		"Zinc fingers, C2H2-type"	10449	protein-coding gene	gene with protein product	"hindsight homolog (drosophila)"	602209				9367691, 18394891	Standard	NM_001003698		Approved	HNT	uc003mxb.3	Q92766	OTTHUMG00000014201	ENST00000349384.6:c.3809-5967T>A	6.37:g.7240690T>A						RREB1_ENST00000349384.6_Intron|RREB1_ENST00000379933.3_Intron|RREB1_ENST00000334984.6_Nonsense_Mutation_p.C1276*	p.C1276*	NM_001003699.3|NM_001003700.1	NP_001003699.1|NP_001003700.1	Q92766	RREB1_HUMAN			11	4365	+	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)	1272					A2RRF5|E2GM80|E2GM81|O75567|O75568|Q5VYB2|Q6BEP5|Q6BEP6|Q6BEP8|Q86SU2|Q9Y474	Nonsense_Mutation	SNP	ENST00000349384.6	37	c.3828T>A	CCDS34336.1	.	.	.	.	.	.	.	.	.	.	T	46	12.373499	0.99662	.	.	ENSG00000124782	ENST00000379938;ENST00000334984	.	.	.	5.17	5.17	0.71159	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-8.5385	14.8501	0.70289	0.0:0.0:0.0:1.0	.	.	.	.	X	1276	.	ENSP00000335574:C1276X	C	+	3	2	RREB1	7185689	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.299000	0.51826	2.167000	0.68274	0.528000	0.53228	TGT		0.413	RREB1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000352985.1			16	77	0	0	0	1	0	16	77					A	7240690	T	A	7240690	1	1	425	0	1	0	0	0	0	0	0	0	13679	1673	58	5		5	RREB1	6	7240690	Intron	SNP	T	TCGA-XA-A8JR-01A-11D-A364-08		7240690	163874377	11	20546											
CAPN11	11131	broad.mit.edu	37	chr6	44151656	44151656	+	Frame_Shift_Del	DEL	C	C	-																															tccacagtggctgcagatgaCcatgtggggatagaggcgct																										TCGA-XA-A8JR-01A-11D-A364-08	TCGA-XA-A8JR-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6df7e9e-c584-4526-afb2-fa4b5199b174	814a1d39-a0af-491b-bb21-8afa1dd84729	g.chr6:44151656delC	ENST00000398776.1	+	23	2245	c.2207delC	c.(2206-2208)accfs	p.T736fs	CAPN11_ENST00000542245.1_Frame_Shift_Del_p.T736fs	NM_007058.3	NP_008989.2	Q9UMQ6	CAN11_HUMAN	calpain 11	736	Domain IV.				proteolysis (GO:0006508)	acrosomal vesicle (GO:0001669)|cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|peptidase activity (GO:0008233)			breast(3)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)	36	all_cancers(18;3.19e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			CTGCAGATGACCATGTGGGGA	0.637																																						ENST00000542245.1																			0				breast(3)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)	36						c.(2206-2208)acfs		calpain 11							18	20	19					6																	44151656		1956	4109	6065	SO:0001589	frameshift_variant	11131				proteolysis	acrosomal vesicle	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity	g.chr6:44151656delC	AJ242832	CCDS47436.1	6p12	2013-01-10			ENSG00000137225	ENSG00000137225		"EF-hand domain containing"	1478	protein-coding gene	gene with protein product		604822				10409436	Standard	NM_007058		Approved		uc003owt.1	Q9UMQ6	OTTHUMG00000014758	ENST00000398776.1:c.2207delC	6.37:g.44151656delC	ENSP00000381758:p.Thr736fs					CAPN11_ENST00000398776.1_Frame_Shift_Del_p.T736fs	p.T736fs			Q9UMQ6	CAN11_HUMAN	Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		23	2245	+	all_cancers(18;3.19e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		736			Domain IV.		B2RA64|Q5T3G1|Q8N4R5	Frame_Shift_Del	DEL	ENST00000398776.1	37	c.2207delC	CCDS47436.1																																																																																				0.637	CAPN11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040714.3			2	4						2	4	---	---	---	---	-	44151656	C	-	44151656	7	5	425	1	0	1	0	1	0	0	0	0	2624	507	18	0	2297	0	CAPN11	6	44151656	Frame_Shift_Del	DEL	C	TCGA-XA-A8JR-01A-11D-A364-08	36910966	44151656	126963411	12	20547											
COL12A1	1303	broad.mit.edu	37	chr6	75884866	75884866	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aatccctgcagcaccgtattGgttgtatctcccctcacagt	8	12	7	14	1	2	0	1	0	1	0	4	0	3	0	4	1	2	5	4	1	3	4			TCGA-XA-A8JR-01A-11D-A364-08	TCGA-XA-A8JR-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6df7e9e-c584-4526-afb2-fa4b5199b174	814a1d39-a0af-491b-bb21-8afa1dd84729	g.chr6:75884866G>A	ENST00000322507.8	-	13	2907	c.2598C>T	c.(2596-2598)acC>acT	p.T866T	COL12A1_ENST00000416123.2_Silent_p.T866T|COL12A1_ENST00000345356.6_Intron|COL12A1_ENST00000483888.2_Silent_p.T866T	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	866	Fibronectin type-III 5. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	collagen type XII trimer (GO:0005595)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|vesicle (GO:0031982)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)			breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						GCACCGTATTGGTTGTATCTC	0.527																																						ENST00000322507.8																			0				breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						c.(2596-2598)acC>acT		collagen, type XII, alpha 1							273	269	271					6																	75884866		2003	4162	6165	SO:0001819	synonymous_variant	1303				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength	g.chr6:75884866G>A	U73779	CCDS43481.1, CCDS43482.1	6q12-q13	2013-02-11	2003-07-24		ENSG00000111799	ENSG00000111799		"Proteoglycans / Extracellular Matrix : Collagen proteoglycans", "Collagens", "Fibronectin type III domain containing"	2188	protein-coding gene	gene with protein product	"collagen type XII proteoglycan"	120320	"collagen, type XII, alpha 1-like"	COL12A1L		9143499	Standard	XM_006715334		Approved		uc003phs.3	Q99715	OTTHUMG00000015051	ENST00000322507.8:c.2598C>T	6.37:g.75884866G>A						COL12A1_ENST00000416123.2_Silent_p.T866T|COL12A1_ENST00000345356.6_Intron|COL12A1_ENST00000483888.2_Silent_p.T866T	p.T866T	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN			13	2907	-			866			Fibronectin type-III 5.		O43853|Q15955|Q5VYK1|Q5VYK2|Q71UR3|Q99716	Silent	SNP	ENST00000322507.8	37	c.2598C>T	CCDS43482.1																																																																																				0.527	COL12A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041249.3	NM_004370		18	118	0	0	0	1	0	18	118					A	75884866	G	A	75884866	2	1	425	1	0	0	0	0	0	0	0	1	3669	1335	47	3		3	COL12A1	6	75884866	Silent	SNP	G	TCGA-XA-A8JR-01A-11D-A364-08	31733210	75884866	95230201	13	20548											
MICALL2	79778	broad.mit.edu	37	chr7	1477839	1477839	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctctgtatctcctccggggaGaggtagtcggggtgcagctg	5	10	16	10	2	2	1	0	0	2	1	5	2	3	1	2	5	2	4	2	5	2	2			TCGA-XA-A8JR-01A-11D-A364-08	TCGA-XA-A8JR-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6df7e9e-c584-4526-afb2-fa4b5199b174	814a1d39-a0af-491b-bb21-8afa1dd84729	g.chr7:1477839G>A	ENST00000297508.7	-	12	2380	c.2205C>T	c.(2203-2205)ctC>ctT	p.L735L	MICALL2_ENST00000405088.4_Silent_p.L523L|MICALL2_ENST00000471899.1_5'UTR	NM_182924.3	NP_891554.1	Q8IY33	MILK2_HUMAN	MICAL-like 2	735	Forms an intramolecular interaction with the N-terminal CH and LIM zinc-binding domains-containing region keeping the protein in a closed conformation. {ECO:0000250}.				actin cytoskeleton reorganization (GO:0031532)|actin filament polymerization (GO:0030041)|endocytic recycling (GO:0032456)|neuron projection development (GO:0031175)|substrate adhesion-dependent cell spreading (GO:0034446)|tight junction assembly (GO:0070830)	cell-cell junction (GO:0005911)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)|stress fiber (GO:0001725)|tight junction (GO:0005923)	actin filament binding (GO:0051015)|filamin binding (GO:0031005)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|lung(8)|ovary(2)|skin(2)	19		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;6.01e-15)		CCTCCGGGGAGAGGTAGTCGG	0.711																																						ENST00000297508.7																			0				breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|lung(8)|ovary(2)|skin(2)	19						c.(2203-2205)ctC>ctT		MICAL-like 2							10	12	12					7																	1477839		2174	4271	6445	SO:0001819	synonymous_variant	79778					cytoplasm|cytoskeleton	zinc ion binding	g.chr7:1477839G>A	BC037988	CCDS5324.1	7p22.3	2006-11-24			ENSG00000164877	ENSG00000164877			29672	protein-coding gene	gene with protein product	"junctional Rab13-binding protein"					12110185, 16525024	Standard	NM_182924		Approved	MGC46023, FLJ23471, MICAL-L2, JRAB	uc003skj.4	Q8IY33	OTTHUMG00000119021	ENST00000297508.7:c.2205C>T	7.37:g.1477839G>A						MICALL2_ENST00000471899.1_5'UTR|MICALL2_ENST00000405088.4_Silent_p.L523L	p.L735L	NM_182924.3	NP_891554.1	Q8IY33	MILK2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;6.01e-15)	12	2380	-		Ovarian(82;0.0253)	735					D3YTD2|Q7RTP4|Q7Z655|Q8TEQ4|Q9H5F9	Silent	SNP	ENST00000297508.7	37	c.2205C>T	CCDS5324.1																																																																																				0.711	MICALL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239223.2	NM_182924		3	6	0	0	0	1	0	3	6					A	1477839	G	A	1477839	2	1	425	1	0	0	0	0	0	0	0	1	9574	929	33	3		3	MICALL2	7	1477839	Silent	SNP	G	TCGA-XA-A8JR-01A-11D-A364-08		1477839	157660824	14	20549											
CHRM2	1129	broad.mit.edu	37	chr7	136700393	136700393	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctggagcacaacaaaatcCagaatggcaaagcccccagg	15	3	10	13	0	0	1	0	0	0	1	1	2	1	2	4	3	3	2	4	3	5	0			TCGA-XA-A8JR-01A-11D-A364-08	TCGA-XA-A8JR-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6df7e9e-c584-4526-afb2-fa4b5199b174	814a1d39-a0af-491b-bb21-8afa1dd84729	g.chr7:136700393C>G	ENST00000445907.2	+	3	1309	c.781C>G	c.(781-783)Cag>Gag	p.Q261E	hsa-mir-490_ENST00000597642.1_RNA|hsa-mir-490_ENST00000592183.1_RNA|hsa-mir-490_ENST00000425981.2_RNA|hsa-mir-490_ENST00000598184.1_RNA|hsa-mir-490_ENST00000586239.1_RNA|hsa-mir-490_ENST00000593789.1_RNA|CHRM2_ENST00000453373.1_Missense_Mutation_p.Q261E|hsa-mir-490_ENST00000439694.1_RNA|CHRM2_ENST00000320658.5_Missense_Mutation_p.Q261E|CHRM2_ENST00000402486.3_Missense_Mutation_p.Q261E|CHRM2_ENST00000397608.3_Missense_Mutation_p.Q261E|CHRM2_ENST00000401861.1_Missense_Mutation_p.Q261E	NM_001006627.1|NM_001006629.1	NP_001006628.1|NP_001006630.1	P08172	ACM2_HUMAN	cholinergic receptor, muscarinic 2	261					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|nervous system development (GO:0007399)|phospholipase C-activating G-protein coupled acetylcholine receptor signaling pathway (GO:0007207)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|regulation of heart contraction (GO:0008016)|response to virus (GO:0009615)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	G-protein coupled acetylcholine receptor activity (GO:0016907)			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(13)|liver(1)|lung(29)|ovary(4)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	68					Aclidinium(DB08897)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Anisotropine Methylbromide(DB00517)|Aripiprazole(DB01238)|Atropine(DB00572)|Bethanechol(DB01019)|Brompheniramine(DB00835)|Carbachol(DB00411)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Cocaine(DB00907)|Cryptenamine(DB00785)|Cyproheptadine(DB00434)|Darifenacin(DB00496)|Desipramine(DB01151)|Dicyclomine(DB00804)|Dimetindene(DB08801)|Diphenidol(DB01231)|Disopyramide(DB00280)|Doxacurium chloride(DB01135)|Doxepin(DB01142)|Ethopropazine(DB00392)|Fesoterodine(DB06702)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Glycopyrrolate(DB00986)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Imipramine(DB00458)|Ipratropium bromide(DB00332)|Ketamine(DB01221)|Loxapine(DB00408)|Maprotiline(DB00934)|Methotrimeprazine(DB01403)|Methylscopolamine bromide(DB00462)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Nicardipine(DB00622)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pancuronium(DB01337)|Paroxetine(DB00715)|Pethidine(DB00454)|Pilocarpine(DB01085)|Pipecuronium(DB01338)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Rocuronium(DB00728)|Scopolamine(DB00747)|Solifenacin(DB01591)|Succinylcholine(DB00202)|Tiotropium(DB01409)|Tolterodine(DB01036)|Triflupromazine(DB00508)|Trihexyphenidyl(DB00376)|Trimipramine(DB00726)|Tropicamide(DB00809)|Ziprasidone(DB00246)	CAACAAAATCCAGAATGGCAA	0.517																																						ENST00000445907.2																			0				central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(13)|liver(1)|lung(29)|ovary(4)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	68						c.(781-783)Cag>Gag		cholinergic receptor, muscarinic 2	Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Carbachol(DB00411)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Desipramine(DB01151)|Diphenidol(DB01231)|Doxacurium chloride(DB01135)|Doxacurium(DB01334)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Ipratropium(DB00332)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pilocarpine(DB01085)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Rocuronium(DB00728)|Thiethylperazine(DB00372)|Tolterodine(DB01036)|Tridihexethyl(DB00505)|Triflupromazine(DB00508)						54	60	58					7																	136700393		2202	4300	6502	SO:0001583	missense	1129				activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|nervous system development|regulation of heart contraction|response to virus	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|protein binding	g.chr7:136700393C>G		CCDS5843.1	7q35-q36	2014-09-17			ENSG00000181072	ENSG00000181072		"Cholinergic receptors", "GPCR / Class A : Cholinergic receptors, muscarinic"	1951	protein-coding gene	gene with protein product	"acetylcholine receptor, muscarinic 2"	118493					Standard	NM_000739		Approved		uc003vtl.1	P08172	OTTHUMG00000155658	ENST00000445907.2:c.781C>G	7.37:g.136700393C>G	ENSP00000399745:p.Gln261Glu					AC009264.1_ENST00000593789.1_RNA|AC009264.1_ENST00000592183.1_RNA|AC009264.1_ENST00000586239.1_RNA|CHRM2_ENST00000402486.3_Missense_Mutation_p.Q261E|CHRM2_ENST00000397608.3_Missense_Mutation_p.Q261E|CHRM2_ENST00000320658.5_Missense_Mutation_p.Q261E|AC009264.1_ENST00000439694.1_RNA|CHRM2_ENST00000401861.1_Missense_Mutation_p.Q261E|AC009264.1_ENST00000425981.2_RNA|AC009264.1_ENST00000598184.1_RNA|AC009264.1_ENST00000597642.1_RNA|CHRM2_ENST00000453373.1_Missense_Mutation_p.Q261E	p.Q261E	NM_001006627.1|NM_001006629.1	NP_001006628.1|NP_001006630.1	P08172	ACM2_HUMAN			3	1309	+			261					Q4VBK6|Q9P1X9	Missense_Mutation	SNP	ENST00000445907.2	37	c.781C>G	CCDS5843.1	.	.	.	.	.	.	.	.	.	.	C	9.136	1.012600	0.19277	.	.	ENSG00000181072	ENST00000445907;ENST00000453373;ENST00000320658;ENST00000397608;ENST00000402486;ENST00000401861	T;T;T;T;T;T	0.60548	0.18;0.18;0.18;0.18;0.18;0.18	5.4	5.4	0.78164	GPCR, rhodopsin-like superfamily (1);	0.455157	0.23105	N	0.051874	T	0.52629	0.1746	L	0.50333	1.59	0.54753	D	0.99998	B	0.23249	0.082	B	0.29663	0.105	T	0.51466	-0.8702	10	0.02654	T	1	-5.9875	19.1729	0.93588	0.0:1.0:0.0:0.0	.	261	P08172	ACM2_HUMAN	E	261	ENSP00000399745:Q261E;ENSP00000415386:Q261E;ENSP00000319984:Q261E;ENSP00000380733:Q261E;ENSP00000384937:Q261E;ENSP00000384401:Q261E	ENSP00000319984:Q261E	Q	+	1	0	CHRM2	136350933	1.000000	0.71417	1.000000	0.80357	0.900000	0.52787	5.954000	0.70298	2.541000	0.85698	0.655000	0.94253	CAG		0.517	CHRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341010.1			3	20	0	0	0	1	0	3	20					G	136700393	C	G	136700393	3	3	425	1	0	0	0	0	1	0	0	0	3377	595	21	5	783	5	CHRM2	7	136700393	Missense_Mutation	SNP	C	TCGA-XA-A8JR-01A-11D-A364-08	135222554	136700393	22438270	15	20550											
FNTA	2339	broad.mit.edu	37	chr8	42932435	42932435	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgtgagaaataactctgtctGgaaccaaagatacttcgtta	14	12	8	7	1	2	2	0	1	2	2	3	4	2	3	1	1	3	1	1	1	6	4			TCGA-XA-A8JR-01A-11D-A364-08	TCGA-XA-A8JR-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6df7e9e-c584-4526-afb2-fa4b5199b174	814a1d39-a0af-491b-bb21-8afa1dd84729	g.chr8:42932435G>A	ENST00000302279.3	+	6	904	c.710G>A	c.(709-711)tGg>tAg	p.W237*	RP11-598P20.5_ENST00000534420.1_Nonsense_Mutation_p.W194*|FNTA_ENST00000529687.1_Nonsense_Mutation_p.W86*|FNTA_ENST00000342116.4_Nonsense_Mutation_p.W170*	NM_002027.2	NP_002018.1	P49354	FNTA_HUMAN	farnesyltransferase, CAAX box, alpha	237					apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|phototransduction, visible light (GO:0007603)|positive regulation of deacetylase activity (GO:0090045)|positive regulation of tubulin deacetylation (GO:0090044)|protein farnesylation (GO:0018343)|protein geranylgeranylation (GO:0018344)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|transforming growth factor beta receptor signaling pathway (GO:0007179)	CAAX-protein geranylgeranyltransferase complex (GO:0005953)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule associated complex (GO:0005875)|protein farnesyltransferase complex (GO:0005965)	alpha-tubulin binding (GO:0043014)|CAAX-protein geranylgeranyltransferase activity (GO:0004662)|microtubule binding (GO:0008017)|protein farnesyltransferase activity (GO:0004660)|protein geranylgeranyltransferase activity (GO:0004661)			cervix(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(8)|ovary(1)|prostate(1)|urinary_tract(1)	16	Prostate(17;0.0119)|Ovarian(28;0.0172)|Lung SC(25;0.184)	all_cancers(86;0.000223)|all_epithelial(80;1.61e-07)|all_lung(54;0.00021)|Lung NSC(58;0.000778)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	Lung(22;0.0777)|LUSC - Lung squamous cell carcinoma(45;0.17)			AACTCTGTCTGGAACCAAAGA	0.378																																						ENST00000529687.1																			0				cervix(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(8)|ovary(1)|prostate(1)|urinary_tract(1)	16						c.(256-258)tGg>tAg		farnesyltransferase, CAAX box, alpha							122	113	116					8																	42932435		2203	4300	6503	SO:0001587	stop_gained	2339				cellular component disassembly involved in apoptosis|positive regulation of deacetylase activity|positive regulation of tubulin deacetylation|protein farnesylation|protein geranylgeranylation|transforming growth factor beta receptor signaling pathway	cytosol|microtubule associated complex	alpha-tubulin binding|CAAX-protein geranylgeranyltransferase activity|microtubule binding|protein farnesyltransferase activity	g.chr8:42932435G>A	L10413	CCDS6140.1	8p11.21	2011-06-27			ENSG00000168522	ENSG00000168522		"Prenyltransferase alpha subunit repeat containing"	3782	protein-coding gene	gene with protein product	"protein prenyltransferase alpha subunit repeat containing 2"	134635				8276393	Standard	NR_033698		Approved	FPTA, PGGT1A, PTAR2	uc003xps.3	P49354	OTTHUMG00000165279	ENST00000302279.3:c.710G>A	8.37:g.42932435G>A	ENSP00000303423:p.Trp237*					RP11-598P20.5_ENST00000534420.1_Nonsense_Mutation_p.194_194ins*|FNTA_ENST00000302279.3_Nonsense_Mutation_p.W237*|FNTA_ENST00000342116.4_Nonsense_Mutation_p.W170*	p.W86*			P49354	FNTA_HUMAN	Lung(22;0.0777)|LUSC - Lung squamous cell carcinoma(45;0.17)		6	1145	+	Prostate(17;0.0119)|Ovarian(28;0.0172)|Lung SC(25;0.184)	all_cancers(86;0.000223)|all_epithelial(80;1.61e-07)|all_lung(54;0.00021)|Lung NSC(58;0.000778)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	237					A6NJW0|Q53XJ9|Q9UDC1	Nonsense_Mutation	SNP	ENST00000302279.3	37	c.257G>A	CCDS6140.1	.	.	.	.	.	.	.	.	.	.	G	32	5.146566	0.94603	.	.	ENSG00000254673;ENSG00000168522;ENSG00000168522;ENSG00000168522	ENST00000534420;ENST00000302279;ENST00000342116;ENST00000533336	.	.	.	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-5.5519	16.8961	0.86101	0.0:0.0:1.0:0.0	.	.	.	.	X	194;237;170;175	.	ENSP00000303423:W237X	W	+	2	0	FNTA;RP11-598P20.5	43051592	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.773000	0.98989	2.579000	0.87056	0.650000	0.86243	TGG		0.378	FNTA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383178.1	NM_002027		3	50	0	0	0	1	0	3	50					A	42932435	G	A	42932435	4	1	425	1	0	0	0	0	0	1	0	0	5977	1357	47	3	732	3	FNTA	8	42932435	Nonsense_Mutation	SNP	G	TCGA-XA-A8JR-01A-11D-A364-08		42932435	103431587	16	20551											
TNNI2	7136	broad.mit.edu	37	chr11	1860932	1860932	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctcaggacctcaggatgggAgagtaagtggtacccctgta	10	8	14	9	0	2	1	2	0	0	1	2	4	2	3	3	4	1	4	3	4	3	3			TCGA-XA-A8JR-01A-11D-A364-08	TCGA-XA-A8JR-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6df7e9e-c584-4526-afb2-fa4b5199b174	814a1d39-a0af-491b-bb21-8afa1dd84729	g.chr11:1860932A>G	ENST00000381906.1	+	2	75	c.6A>G	c.(4-6)ggA>ggG	p.G2G	TNNI2_ENST00000252898.7_Silent_p.G2G|TNNI2_ENST00000381905.3_5'Flank|TNNI2_ENST00000381911.1_Silent_p.G2G	NM_001145829.1	NP_001139301.1	P48788	TNNI2_HUMAN	troponin I type 2 (skeletal, fast)	2	Involved in binding TNC.				muscle filament sliding (GO:0030049)|positive regulation of transcription, DNA-templated (GO:0045893)|skeletal muscle contraction (GO:0003009)	cytosol (GO:0005829)|nucleus (GO:0005634)|troponin complex (GO:0005861)	troponin T binding (GO:0031014)			lung(8)|prostate(1)|urinary_tract(1)	10		all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00136)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		TCAGGATGGGAGAGTAAGTGG	0.632																																						ENST00000381906.1																			0				lung(8)|prostate(1)|urinary_tract(1)	10						c.(4-6)ggA>ggG		troponin I type 2 (skeletal, fast)							176	141	153					11																	1860932		2202	4299	6501	SO:0001819	synonymous_variant	7136				muscle filament sliding|positive regulation of transcription, DNA-dependent|skeletal muscle contraction	cytosol|nucleus|troponin complex	actin binding|troponin T binding	g.chr11:1860932A>G	L21715	CCDS31333.1, CCDS53594.1	11p15.5	2014-09-17	2005-09-12		ENSG00000130598	ENSG00000130598			11946	protein-coding gene	gene with protein product	"troponin I, fast-twitch skeletal muscle isoform", "troponin I fast twitch 2"	191043	"troponin I, skeletal, fast", "arthrogryposis multiplex congenita, distal, type 2B"	AMCD2B		9016781, 12592607	Standard	NM_001145829		Approved	FSSV, DA2B	uc010qxe.1	P48788	OTTHUMG00000012253	ENST00000381906.1:c.6A>G	11.37:g.1860932A>G						TNNI2_ENST00000252898.7_Silent_p.G2G|TNNI2_ENST00000381911.1_Silent_p.G2G	p.G2G	NM_001145829.1	NP_001139301.1	P48788	TNNI2_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00136)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)	2	75	+		all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	2			Involved in binding TNC.		A6NIV8|A6NJU5	Silent	SNP	ENST00000381906.1	37	c.6A>G	CCDS31333.1																																																																																				0.632	TNNI2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000034046.2	NM_003282		3	21	0	0	0	1	0	3	21					G	1860932	A	G	1860932	2	3	425	1	0	0	0	0	0	0	0	1	16324	291	11	4		4	TNNI2	11	1860932	Silent	SNP	A	TCGA-XA-A8JR-01A-11D-A364-08		1860932	133145584	17	20552											
CD63	967	broad.mit.edu	37	chr12	56120995	56120995	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	cagcccacaaaagccaccagGaagaggaagacacccactgc	16	1	9	15	0	0	2	0	0	0	2	0	4	0	4	4	2	3	0	4	2	4	0			TCGA-XA-A8JR-01A-11D-A364-08	TCGA-XA-A8JR-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6df7e9e-c584-4526-afb2-fa4b5199b174	814a1d39-a0af-491b-bb21-8afa1dd84729	g.chr12:56120995G>A	ENST00000549117.1	-	3	631	c.195C>T	c.(193-195)ttC>ttT	p.F65F	CD63_ENST00000420846.3_Silent_p.F65F|CD63_ENST00000552692.1_Silent_p.F65F|CD63_ENST00000552754.1_Silent_p.F42F|CD63_ENST00000552067.1_5'Flank|CD63_ENST00000548160.1_5'Flank|RP11-644F5.11_ENST00000552576.1_RNA|CD63_ENST00000550776.1_5'UTR|CD63_ENST00000548898.1_5'Flank|CD63_ENST00000546939.1_5'UTR|CD63_ENST00000257857.4_Silent_p.F65F	NM_001257389.1	NP_001244318.1	P08962	CD63_HUMAN	CD63 molecule	65					blood coagulation (GO:0007596)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cellular protein localization (GO:0034613)|endosome to melanosome transport (GO:0035646)|pigment granule maturation (GO:0048757)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of integrin-mediated signaling pathway (GO:2001046)|positive regulation of receptor internalization (GO:0002092)|protein transport (GO:0015031)|regulation of rubidium ion transport (GO:2000680)|regulation of vascular endothelial growth factor signaling pathway (GO:1900746)	cell surface (GO:0009986)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|multivesicular body, internal vesicle (GO:0097487)|plasma membrane (GO:0005886)|platelet dense granule membrane (GO:0031088)				kidney(1)|large_intestine(3)|lung(2)|ovary(1)	7						AAGCCACCAGGAAGAGGAAGA	0.592																																					Pancreas(123;1459 1747 6717 18841 37380)	ENST00000549117.1																			0				kidney(1)|large_intestine(3)|lung(2)|ovary(1)	7						c.(193-195)ttC>ttT		CD63 molecule							98	100	99					12																	56120995		2203	4300	6503	SO:0001819	synonymous_variant	0				platelet activation|platelet degranulation	integral to plasma membrane|late endosome membrane|lysosomal membrane|platelet dense granule membrane		g.chr12:56120995G>A	M58485	CCDS8890.1, CCDS58242.1, CCDS58243.1	12q12-q13	2013-02-14	2006-03-28					"CD molecules", "Tetraspanins"	1692	protein-coding gene	gene with protein product		155740	"CD63 antigen (melanoma 1 antigen)"	MLA1			Standard	NM_001780		Approved	ME491, TSPAN30	uc031qhv.1	P08962		ENST00000549117.1:c.195C>T	12.37:g.56120995G>A						CD63_ENST00000420846.3_Silent_p.F65F|CD63_ENST00000257857.4_Silent_p.F65F|CD63_ENST00000550776.1_5'UTR|CD63_ENST00000546939.1_5'UTR|CD63_ENST00000552692.1_Silent_p.F65F|CD63_ENST00000552754.1_Silent_p.F42F	p.F65F	NM_001257389.1	NP_001244318.1	P08962	CD63_HUMAN			3	631	-			65					F8VZE2|Q5TZP3|Q8N6Z9|Q9UCG6	Silent	SNP	ENST00000549117.1	37	c.195C>T	CCDS8890.1																																																																																				0.592	CD63-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000409234.1			7	43	0	0	0	1	0	7	43					A	56120995	G	A	56120995	2	1	425	1	0	0	0	0	0	0	0	1	3029	1165	41	3		3	CD63	12	56120995	Silent	SNP	G	TCGA-XA-A8JR-01A-11D-A364-08		56120995	77730900	18	20553											
MYCBP2	23077	broad.mit.edu	37	chr13	77672530	77672530	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tttcctgtaccacatggggaGagggagctctattttcagat	9	13	11	8	0	2	2	1	0	1	2	3	4	3	3	2	3	2	2	2	3	2	5			TCGA-XA-A8JR-01A-11D-A364-08	TCGA-XA-A8JR-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6df7e9e-c584-4526-afb2-fa4b5199b174	814a1d39-a0af-491b-bb21-8afa1dd84729	g.chr13:77672530G>C	ENST00000544440.2	-	56	8662	c.8645C>G	c.(8644-8646)tCt>tGt	p.S2882C	MYCBP2_ENST00000357337.6_Missense_Mutation_p.S2882C|MYCBP2-AS1_ENST00000593933.1_RNA|MYCBP2_ENST00000360084.5_Missense_Mutation_p.S405C|MYCBP2_ENST00000482517.1_5'UTR|MYCBP2_ENST00000407578.2_Missense_Mutation_p.S2920C					MYC binding protein 2, E3 ubiquitin protein ligase											NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		CACATGGGGAGAGGGAGCTCT	0.473																																						ENST00000407578.2																			0				NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118						c.(8758-8760)tCt>tGt		MYC binding protein 2, E3 ubiquitin protein ligase							66	67	66					13																	77672530		2203	4300	6503	SO:0001583	missense	23077				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding	g.chr13:77672530G>C	AB020723		13q22	2012-02-23	2012-02-23		ENSG00000005810	ENSG00000005810			23386	protein-coding gene	gene with protein product		610392	"MYC binding protein 2"			9689053, 15057823	Standard	NM_015057		Approved	PAM, KIAA0916, FLJ10106	uc021rks.1	O75592	OTTHUMG00000017105	ENST00000544440.2:c.8645C>G	13.37:g.77672530G>C	ENSP00000444596:p.Ser2882Cys					MYCBP2_ENST00000357337.6_Missense_Mutation_p.S2882C|MYCBP2_ENST00000482517.1_5'UTR|MYCBP2_ENST00000360084.5_Missense_Mutation_p.S405C|MYCBP2-AS1_ENST00000593933.1_RNA|MYCBP2_ENST00000544440.2_Missense_Mutation_p.S2882C	p.S2920C	NM_015057.4	NP_055872.4	O75592	MYCB2_HUMAN		GBM - Glioblastoma multiforme(99;0.109)	56	9025	-		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)	2882						Missense_Mutation	SNP	ENST00000544440.2	37	c.8759C>G		.	.	.	.	.	.	.	.	.	.	G	19.61	3.860130	0.71834	.	.	ENSG00000005810	ENST00000357337;ENST00000407578;ENST00000544440;ENST00000360084	T;T;T;T	0.59906	1.14;1.14;1.14;0.23	5.42	5.42	0.78866	.	0.000000	0.85682	D	0.000000	T	0.73473	0.3591	L	0.54323	1.7	0.80722	D	1	D;D;D	0.89917	1.0;0.999;0.997	D;D;D	0.87578	0.998;0.992;0.981	T	0.73591	-0.3934	10	0.52906	T	0.07	.	19.2299	0.93834	0.0:0.0:1.0:0.0	.	268;2882;2882	Q9UG08;O75592-2;O75592	.;.;MYCB2_HUMAN	C	2882;2920;2882;405	ENSP00000349892:S2882C;ENSP00000384288:S2920C;ENSP00000444596:S2882C;ENSP00000353197:S405C	ENSP00000349892:S2882C	S	-	2	0	MYCBP2	76570531	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	7.628000	0.83189	2.553000	0.86117	0.591000	0.81541	TCT		0.473	MYCBP2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000045326.1	NM_015057		9	74	0	0	0	1	0	9	74					C	77672530	G	C	77672530	3	2	425	1	0	0	0	0	1	0	0	0	10018	942	33	5	5389	5	MYCBP2	13	77672530	Missense_Mutation	SNP	G	TCGA-XA-A8JR-01A-11D-A364-08		77672530	37497348	19	20554											
CIRH1A	84916	broad.mit.edu	37	chr16	69194305	69194305	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gcagtcagtccagatgggaaTtggctagctgcatcaggtac	10	9	13	9	0	2	1	2	0	0	1	3	2	3	2	1	3	3	5	1	3	3	3			TCGA-XA-A8JR-01A-11D-A364-08	TCGA-XA-A8JR-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6df7e9e-c584-4526-afb2-fa4b5199b174	814a1d39-a0af-491b-bb21-8afa1dd84729	g.chr16:69194305T>C	ENST00000314423.7	+	13	1668	c.1491T>C	c.(1489-1491)aaT>aaC	p.N497N	CIRH1A_ENST00000352319.4_Silent_p.N382N|CIRH1A_ENST00000563094.1_Silent_p.N497N			Q969X6	CIR1A_HUMAN	cirrhosis, autosomal recessive 1A (cirhin)	497					maturation of SSU-rRNA (GO:0030490)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|t-UTP complex (GO:0034455)	poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(4)|prostate(1)|urinary_tract(1)	16				OV - Ovarian serous cystadenocarcinoma(108;0.125)		CAGATGGGAATTGGCTAGCTG	0.473																																					Melanoma(69;1156 1278 4951 8715 52012)	ENST00000563094.1																			0				breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(4)|prostate(1)|urinary_tract(1)	16						c.(1489-1491)aaT>aaC		cirrhosis, autosomal recessive 1A (cirhin)							291	257	268					16																	69194305		2198	4300	6498	SO:0001819	synonymous_variant	84916					nucleolus	protein binding	g.chr16:69194305T>C	AB075868	CCDS10872.1	16q22	2014-04-07			ENSG00000141076	ENSG00000141076		"WD repeat domain containing"	1983	protein-coding gene	gene with protein product	"UTP4, small subunit (SSU) processome component, homolog (yeast)"	607456				10820129, 20385600	Standard	NM_032830		Approved	NAIC, FLJ14728, KIAA1988, TEX292, CIRHIN, UTP4	uc002ews.4	Q969X6	OTTHUMG00000137570	ENST00000314423.7:c.1491T>C	16.37:g.69194305T>C						CIRH1A_ENST00000352319.4_Silent_p.N382N|CIRH1A_ENST00000314423.7_Silent_p.N497N	p.N497N			Q969X6	CIR1A_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.125)	13	1525	+			497					Q8NCD9|Q8TF14|Q96SP0|Q96SR9|Q96SZ9|Q96T13|Q9BWK6	Silent	SNP	ENST00000314423.7	37	c.1491T>C	CCDS10872.1																																																																																				0.473	CIRH1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268950.2	NM_032830		12	77	0	0	0	1	0	12	77					C	69194305	T	C	69194305	2	2	425	1	0	0	0	0	0	0	0	1	3434	1490	52	4		4	CIRH1A	16	69194305	Silent	SNP	T	TCGA-XA-A8JR-01A-11D-A364-08		69194305	21160448	20	20555											
NME1	4830	broad.mit.edu	37	chr17	49239114	49239114	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttatacatggcagtgattctGtggagagtgcagagaaggag	12	10	15	4	0	1	3	0	1	1	2	1	6	1	4	0	3	2	2	0	3	3	3			TCGA-XA-A8JR-01A-11D-A364-08	TCGA-XA-A8JR-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6df7e9e-c584-4526-afb2-fa4b5199b174	814a1d39-a0af-491b-bb21-8afa1dd84729	g.chr17:49239114G>A	ENST00000393196.3	+	5	498	c.367G>A	c.(367-369)Gtg>Atg	p.V123M	NME1-NME2_ENST00000393198.3_Intron|NME1_ENST00000013034.3_Missense_Mutation_p.V148M|NME2_ENST00000555572.1_Intron|NME2_ENST00000393193.2_Intron|NME1_ENST00000336097.3_Missense_Mutation_p.V148M|NME1-NME2_ENST00000608447.1_Intron|NME1_ENST00000511355.1_3'UTR|NME2_ENST00000376392.6_Intron	NM_000269.2	NP_000260.1	P15531	NDKA_HUMAN	NME/NM23 nucleoside diphosphate kinase 1	123					cellular response to drug (GO:0035690)|cellular response to fatty acid (GO:0071398)|cellular response to glucose stimulus (GO:0071333)|CTP biosynthetic process (GO:0006241)|DNA catabolic process (GO:0006308)|endocytosis (GO:0006897)|GTP biosynthetic process (GO:0006183)|hippocampus development (GO:0021766)|lactation (GO:0007595)|negative regulation of cell proliferation (GO:0008285)|negative regulation of gene expression (GO:0010629)|negative regulation of myeloid leukocyte differentiation (GO:0002762)|nucleobase-containing small molecule interconversion (GO:0015949)|nucleobase-containing small molecule metabolic process (GO:0055086)|positive regulation of DNA binding (GO:0043388)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of neuron projection development (GO:0010976)|regulation of apoptotic process (GO:0042981)|response to amine (GO:0014075)|response to cAMP (GO:0051591)|response to testosterone (GO:0033574)|small molecule metabolic process (GO:0044281)|UTP biosynthetic process (GO:0006228)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|ruffle membrane (GO:0032587)	ATP binding (GO:0005524)|deoxyribonuclease activity (GO:0004536)|GTP binding (GO:0005525)|identical protein binding (GO:0042802)|magnesium ion binding (GO:0000287)|nucleoside diphosphate kinase activity (GO:0004550)|poly(A) RNA binding (GO:0044822)|ribosomal small subunit binding (GO:0043024)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|single-stranded DNA binding (GO:0003697)			endometrium(1)|large_intestine(1)|lung(1)	3			BRCA - Breast invasive adenocarcinoma(22;1.54e-08)		Adefovir Dipivoxil(DB00718)|Lamivudine(DB00709)|Tenofovir(DB00300)	CAGTGATTCTGTGGAGAGTGC	0.478																																					GBM(176;1298 2890 6639 30062)	ENST00000336097.3																			0				endometrium(1)|large_intestine(1)|lung(1)	3						c.(442-444)Gtg>Atg		NME/NM23 nucleoside diphosphate kinase 1							128	117	121					17																	49239114		2203	4300	6503	SO:0001583	missense	4830							g.chr17:49239114G>A	AL360191, X17620	CCDS11578.1, CCDS11579.1	17q21.33	2013-04-29	2012-05-18		ENSG00000239672	ENSG00000239672			7849	protein-coding gene	gene with protein product		156490	"non-metastatic cells 1, protein (NM23A) expressed in"			8270257, 19852809	Standard	NM_000269		Approved	NM23, NM23-H1, NDPKA		P15531	OTTHUMG00000137474	ENST00000393196.3:c.367G>A	17.37:g.49239114G>A	ENSP00000376892:p.Val123Met					NME2_ENST00000376392.6_Intron|NME1_ENST00000393196.3_Missense_Mutation_p.V123M|NME1_ENST00000511355.1_3'UTR|NME2_ENST00000555572.1_Intron|NME1_ENST00000013034.3_Missense_Mutation_p.V148M|NME2_ENST00000393193.2_Intron	p.V148M	NM_198175.1	NP_937818.1			BRCA - Breast invasive adenocarcinoma(22;1.54e-08)		6	678	+								Q6FGK3|Q86XQ2|Q9UDJ6	Missense_Mutation	SNP	ENST00000393196.3	37	c.442G>A	CCDS11579.1	.	.	.	.	.	.	.	.	.	.	G	14.97	2.693554	0.48202	.	.	ENSG00000239672	ENST00000393196;ENST00000336097;ENST00000013034	T;T;T	0.78003	-1.14;-1.14;-1.14	5.81	4.84	0.62591	.	.	.	.	.	D	0.88047	0.6332	H	0.97465	4.01	0.42457	D	0.992776	B;P	0.37997	0.145;0.614	B;B	0.43103	0.236;0.408	D	0.91172	0.4969	9	0.72032	D	0.01	-9.3081	15.1878	0.73020	0.0675:0.0:0.9324:0.0	.	123;148	P15531;P15531-2	NDKA_HUMAN;.	M	123;148;148	ENSP00000376892:V123M;ENSP00000337060:V148M;ENSP00000013034:V148M	ENSP00000013034:V148M	V	+	1	0	NME1	46594113	1.000000	0.71417	0.923000	0.36655	0.191000	0.23601	4.453000	0.60061	1.605000	0.50152	-0.136000	0.14681	GTG		0.478	NME1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268662.2	NM_000269		9	26	0	0	0	1	0	9	26					A	49239114	G	A	49239114	3	1	425	1	0	0	0	0	1	0	0	0	10489	1377	48	3	460	3	NME1	17	49239114	Missense_Mutation	SNP	G	TCGA-XA-A8JR-01A-11D-A364-08		49239114	31956096	21	20556											
FBN3	84467	broad.mit.edu	37	chr19	8156424	8156424	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gaagctcccagggctgttggTacaggtgccaaagaggcaga	11	6	15	9	0	0	2	0	0	0	2	1	3	1	2	2	4	3	5	2	4	3	2			TCGA-XA-A8JR-01A-11D-A364-08	TCGA-XA-A8JR-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6df7e9e-c584-4526-afb2-fa4b5199b174	814a1d39-a0af-491b-bb21-8afa1dd84729	g.chr19:8156424T>C	ENST00000600128.1	-	48	6370	c.5956A>G	c.(5956-5958)Acc>Gcc	p.T1986A	FBN3_ENST00000270509.2_Missense_Mutation_p.T1986A|FBN3_ENST00000601739.1_Missense_Mutation_p.T1986A			Q75N90	FBN3_HUMAN	fibrillin 3	1986	EGF-like 32; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.					proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						GGGCTGTTGGTACAGGTGCCA	0.587																																						ENST00000600128.1																			0				NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						c.(5956-5958)Acc>Gcc		fibrillin 3							114	99	104					19																	8156424		2203	4300	6503	SO:0001583	missense	84467					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent	g.chr19:8156424T>C		CCDS12196.1	19p13	2008-02-05							18794	protein-coding gene	gene with protein product		608529					Standard	NM_032447		Approved		uc002mjf.3	Q75N90		ENST00000600128.1:c.5956A>G	19.37:g.8156424T>C	ENSP00000470498:p.Thr1986Ala					FBN3_ENST00000601739.1_Missense_Mutation_p.T1986A|FBN3_ENST00000270509.2_Missense_Mutation_p.T1986A	p.T1986A			Q75N90	FBN3_HUMAN			48	6370	-			1986			EGF-like 32; calcium-binding.		Q75N91|Q75N92|Q75N93|Q86SJ5|Q96JP8	Missense_Mutation	SNP	ENST00000600128.1	37	c.5956A>G	CCDS12196.1	.	.	.	.	.	.	.	.	.	.	T	9.901	1.207006	0.22205	.	.	ENSG00000142449	ENST00000270509	D	0.87412	-2.25	4.45	2.35	0.29111	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.118609	0.56097	U	0.000031	T	0.80803	0.4693	L	0.50919	1.6	0.29032	N	0.885649	B	0.02656	0.0	B	0.10450	0.005	T	0.66874	-0.5813	10	0.25751	T	0.34	.	8.4538	0.32886	0.0:0.163:0.0:0.837	.	1986	Q75N90	FBN3_HUMAN	A	1986	ENSP00000270509:T1986A	ENSP00000270509:T1986A	T	-	1	0	FBN3	8062424	1.000000	0.71417	0.834000	0.33040	0.332000	0.28634	1.849000	0.39318	0.132000	0.18615	-0.250000	0.11733	ACC		0.587	FBN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461428.2	NM_032447		3	39	0	0	0	1	0	3	39					C	8156424	T	C	8156424	3	2	425	1	0	0	0	0	1	0	0	0	5704	1638	57	4	2541	4	FBN3	19	8156424	Missense_Mutation	SNP	T	TCGA-XA-A8JR-01A-11D-A364-08		8156424	50972559	22	20557											
GZF1	64412	broad.mit.edu	37	chr20	23347711	23347711	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cactcagaaccacatgctgaTttatcataaaaggtgtcaca	15	10	6	10	0	3	2	3	1	0	1	3	2	3	2	1	1	2	1	1	1	4	3			TCGA-XA-A8JR-01A-11D-A364-08	TCGA-XA-A8JR-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6df7e9e-c584-4526-afb2-fa4b5199b174	814a1d39-a0af-491b-bb21-8afa1dd84729	g.chr20:23347711T>A	ENST00000338121.5	+	3	1513	c.1436T>A	c.(1435-1437)aTt>aAt	p.I479N	GZF1_ENST00000461789.1_Intron|GZF1_ENST00000542987.1_Intron|GZF1_ENST00000544236.1_Missense_Mutation_p.I3N|GZF1_ENST00000377051.2_Missense_Mutation_p.I479N			Q9H116	GZF1_HUMAN	GDNF-inducible zinc finger protein 1	479					branching involved in ureteric bud morphogenesis (GO:0001658)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001206)|sequence-specific DNA binding (GO:0043565)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(7)|prostate(1)|urinary_tract(2)	24	Lung NSC(19;0.0605)|Colorectal(13;0.0993)|all_lung(19;0.135)					CACATGCTGATTTATCATAAA	0.353																																						ENST00000338121.5																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(7)|prostate(1)|urinary_tract(2)	24						c.(1435-1437)aTt>aAt		GDNF-inducible zinc finger protein 1							131	114	120					20																	23347711		2203	4300	6503	SO:0001583	missense	64412				transcription, DNA-dependent	nucleolus|nucleoplasm	sequence-specific DNA binding|zinc ion binding	g.chr20:23347711T>A	AK025447	CCDS13151.1	20p11.21	2013-01-09	2006-09-19	2006-09-19	ENSG00000125812	ENSG00000125812		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	15808	protein-coding gene	gene with protein product		613842	"zinc finger protein 336"	ZNF336		14522971, 16049025	Standard	NM_022482		Approved	dJ322G13.2, ZBTB23	uc002wsz.3	Q9H116	OTTHUMG00000032069	ENST00000338121.5:c.1436T>A	20.37:g.23347711T>A	ENSP00000338290:p.Ile479Asn					GZF1_ENST00000544236.1_Missense_Mutation_p.I3N|GZF1_ENST00000461789.1_Intron|GZF1_ENST00000377051.2_Missense_Mutation_p.I479N|GZF1_ENST00000542987.1_Intron	p.I479N			Q9H116	GZF1_HUMAN			3	1513	+	Lung NSC(19;0.0605)|Colorectal(13;0.0993)|all_lung(19;0.135)		479					A8K199|B2RBC3|B3KPL4|B4DF58|D3DW39|Q54A22|Q96N08|Q9BQK9|Q9H117|Q9H6W6	Missense_Mutation	SNP	ENST00000338121.5	37	c.1436T>A	CCDS13151.1	.	.	.	.	.	.	.	.	.	.	T	19.37	3.813723	0.70912	.	.	ENSG00000125812	ENST00000544236;ENST00000338121;ENST00000377051	T;T;T	0.37915	2.37;1.17;1.17	5.38	5.38	0.77491	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.207913	0.30118	N	0.010374	T	0.29976	0.0750	N	0.05574	-0.02	0.80722	D	1	P	0.51147	0.942	P	0.50490	0.642	T	0.22312	-1.0220	10	0.49607	T	0.09	.	14.5729	0.68224	0.0:0.0:0.0:1.0	.	479	Q9H116	GZF1_HUMAN	N	3;479;479	ENSP00000445458:I3N;ENSP00000338290:I479N;ENSP00000366250:I479N	ENSP00000338290:I479N	I	+	2	0	GZF1	23295711	1.000000	0.71417	1.000000	0.80357	0.839000	0.47603	5.567000	0.67378	2.047000	0.60756	0.528000	0.53228	ATT		0.353	GZF1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078333.1	NM_022482		4	33	0	0	0	1	0	4	33					A	23347711	T	A	23347711	3	1	425	1	0	0	0	0	1	0	0	0	6914	1493	52	5	1442	5	GZF1	20	23347711	Missense_Mutation	SNP	T	TCGA-XA-A8JR-01A-11D-A364-08		23347711	39677809	23	20558											
RBM12	10137	broad.mit.edu	37	chr20	34242229	34242229	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cattcccattatttcgacctAcatgatctttcaacaaatgc	12	14	3	12	1	2	1	1	1	1	0	4	2	3	1	2	0	3	0	2	0	4	5			TCGA-XA-A8JR-01A-11D-A364-08	TCGA-XA-A8JR-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6df7e9e-c584-4526-afb2-fa4b5199b174	814a1d39-a0af-491b-bb21-8afa1dd84729	g.chr20:34242229A>G	ENST00000374114.3	-	3	1279	c.1016T>C	c.(1015-1017)gTa>gCa	p.V339A	CPNE1_ENST00000397445.1_Intron|CPNE1_ENST00000397443.1_Intron|CPNE1_ENST00000397446.1_Intron|RP1-309K20.6_ENST00000541176.2_Intron|RBM12_ENST00000359646.1_Missense_Mutation_p.V339A|RBM12_ENST00000374104.3_Missense_Mutation_p.V339A|CPNE1_ENST00000352393.4_Intron|CPNE1_ENST00000317677.5_5'Flank|CPNE1_ENST00000317619.3_Intron|CPNE1_ENST00000397442.1_Intron	NM_001198838.1|NM_001198840.1|NM_006047.5	NP_001185767.1|NP_001185769.1|NP_006038.2	Q9NTZ6	RBM12_HUMAN	RNA binding motif protein 12	339	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.					nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(7)|kidney(1)|large_intestine(3)|lung(14)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36	Lung NSC(9;0.00608)|all_lung(11;0.00918)		BRCA - Breast invasive adenocarcinoma(18;0.00953)			ATTTCGACCTACATGATCTTT	0.403																																						ENST00000374114.3																			0				breast(3)|endometrium(7)|kidney(1)|large_intestine(3)|lung(14)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						c.(1015-1017)gTa>gCa		RNA binding motif protein 12							126	123	124					20																	34242229		2203	4300	6503	SO:0001583	missense	10137					nucleus	nucleotide binding|protein binding|RNA binding	g.chr20:34242229A>G	AJ289772	CCDS13261.1	20q11.21	2013-02-12			ENSG00000244462	ENSG00000244462		"RNA binding motif (RRM) containing"	9898	protein-coding gene	gene with protein product		607179				11435693	Standard	NM_006047		Approved	HRIHFB2091, KIAA0765, SWAN	uc021wcq.1	Q9NTZ6	OTTHUMG00000032350	ENST00000374114.3:c.1016T>C	20.37:g.34242229A>G	ENSP00000363228:p.Val339Ala					RBM12_ENST00000374104.3_Missense_Mutation_p.V339A|RBM12_ENST00000359646.1_Missense_Mutation_p.V339A|CPNE1_ENST00000317619.3_Intron|CPNE1_ENST00000397445.1_Intron|CPNE1_ENST00000397442.1_Intron|CPNE1_ENST00000397443.1_Intron|CPNE1_ENST00000397446.1_Intron|CPNE1_ENST00000352393.4_Intron	p.V339A	NM_001198838.1|NM_001198840.1|NM_006047.5	NP_001185767.1|NP_001185769.1|NP_006038.2	Q9NTZ6	RBM12_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.00953)		3	1279	-	Lung NSC(9;0.00608)|all_lung(11;0.00918)		339			RRM 1.		B3KRU2|E1P5R6|O94865|Q8N3B1|Q9H196	Missense_Mutation	SNP	ENST00000374114.3	37	c.1016T>C	CCDS13261.1	.	.	.	.	.	.	.	.	.	.	A	4.511	0.094793	0.08681	.	.	ENSG00000244462	ENST00000374114;ENST00000359646;ENST00000374104;ENST00000349942	T;T;T	0.28069	1.63;1.63;1.63	4.92	3.83	0.44106	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (1);	0.186139	0.37483	N	0.002073	T	0.12390	0.0301	N	0.03608	-0.345	0.80722	D	1	B	0.02656	0.0	B	0.12156	0.007	T	0.09015	-1.0694	10	0.10377	T	0.69	-3.1411	10.4589	0.44567	0.9243:0.0:0.0757:0.0	.	339	Q9NTZ6	RBM12_HUMAN	A	339;339;339;138	ENSP00000363228:V339A;ENSP00000352668:V339A;ENSP00000363217:V339A	ENSP00000339879:V138A	V	-	2	0	RBM12	33705643	1.000000	0.71417	0.988000	0.46212	0.998000	0.95712	5.458000	0.66679	0.931000	0.37242	0.449000	0.29647	GTA		0.403	RBM12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078894.1	NM_006047		4	83	0	0	0	1	0	4	83					G	34242229	A	G	34242229	3	3	425	1	0	0	0	0	1	0	0	0	13113	391	14	4	1786	4	RBM12	20	34242229	Missense_Mutation	SNP	A	TCGA-XA-A8JR-01A-11D-A364-08	10894518	34242229	28783291	24	20559											
KIAA0406	9675	broad.mit.edu	37	chr20	36640365	36640365	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagatgttactgttcatggaGcaaatagtgggacttggctt	10	13	12	6	0	1	1	1	0	0	1	1	3	1	3	0	3	2	4	0	3	3	5			TCGA-XA-A8JR-01A-11D-A364-08	TCGA-XA-A8JR-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6df7e9e-c584-4526-afb2-fa4b5199b174	814a1d39-a0af-491b-bb21-8afa1dd84729	g.chr20:36640365G>A	ENST00000373448.2	-	3	2092	c.1854C>T	c.(1852-1854)tgC>tgT	p.C618C	TTI1_ENST00000373447.3_Silent_p.C618C|TTI1_ENST00000487362.1_5'UTR|TTI1_ENST00000449821.1_Silent_p.C618C	NM_014657.1	NP_055472.1	O43156	TTI1_HUMAN	TELO2 interacting protein 1	618					regulation of TOR signaling (GO:0032006)	cytoplasm (GO:0005737)|TORC1 complex (GO:0031931)|TORC2 complex (GO:0031932)				breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	47						TGTTCATGGAGCAAATAGTGG	0.458																																						ENST00000373448.2																			0				breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	47						c.(1852-1854)tgC>tgT		TELO2 interacting protein 1							139	136	137					20																	36640365		2203	4300	6503	SO:0001819	synonymous_variant	9675						binding	g.chr20:36640365G>A	BC013121	CCDS13300.1	20q11.23	2011-11-10	2011-11-10	2010-06-22	ENSG00000101407	ENSG00000101407			29029	protein-coding gene	gene with protein product	"smg-10 homolog, nonsense mediated mRNA decay factor (C. elegans)"	614425	"KIAA0406", "Tel2 interacting protein 1 homolog (S. pombe)"	KIAA0406		9455477, 20427287, 20371770	Standard	NM_014657		Approved	smg-10	uc002xhl.3	O43156	OTTHUMG00000032433	ENST00000373448.2:c.1854C>T	20.37:g.36640365G>A						TTI1_ENST00000449821.1_Silent_p.C618C|TTI1_ENST00000487362.1_5'UTR|TTI1_ENST00000373447.3_Silent_p.C618C	p.C618C	NM_014657.1	NP_055472.1	O43156	TTI1_HUMAN			3	2092	-			618					D6W4K3|Q5JX67|Q96A38|Q9BR47|Q9H4K0	Silent	SNP	ENST00000373448.2	37	c.1854C>T	CCDS13300.1																																																																																				0.458	TTI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079138.2	NM_014657		4	96	0	0	0	1	0	4	96					A	36640365	G	A	36640365	2	1	425	1	0	0	0	0	0	0	0	1	8173	963	34	3		3	KIAA0406	20	36640365	Silent	SNP	G	TCGA-XA-A8JR-01A-11D-A364-08	2398136	36640365	26385155	25	20560											
ACTR5	79913	broad.mit.edu	37	chr20	37400246	37400246	+	Frame_Shift_Del	DEL	T	T	-																															ctggatgcctggtacggtgcTcgtgactgggccttgaacca																										TCGA-XA-A8JR-01A-11D-A364-08	TCGA-XA-A8JR-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6df7e9e-c584-4526-afb2-fa4b5199b174	814a1d39-a0af-491b-bb21-8afa1dd84729	g.chr20:37400246delT	ENST00000243903.4	+	9	1648	c.1611delT	c.(1609-1611)gctfs	p.A537fs		NM_024855.3	NP_079131.3	Q9H9F9	ARP5_HUMAN	ARP5 actin-related protein 5 homolog (yeast)	537					DNA recombination (GO:0006310)|double-strand break repair (GO:0006302)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|UV-damage excision repair (GO:0070914)	cytoplasm (GO:0005737)|Ino80 complex (GO:0031011)|nucleus (GO:0005634)				kidney(2)|large_intestine(2)|liver(1)|lung(5)|skin(2)	12		Myeloproliferative disorder(115;0.00878)				GGTACGGTGCTCGTGACTGGG	0.507																																						ENST00000243903.4																			0				kidney(2)|large_intestine(2)|liver(1)|lung(5)|skin(2)	12						c.(1609-1611)gcfs		ARP5 actin-related protein 5 homolog (yeast)							124	103	110					20																	37400246		2203	4300	6503	SO:0001589	frameshift_variant	79913				DNA recombination|double-strand break repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent|UV-damage excision repair	cytoplasm|Ino80 complex	ATP binding|protein binding	g.chr20:37400246delT	AK022847	CCDS13308.1	20q12	2011-07-06	2001-11-28		ENSG00000101442	ENSG00000101442		"INO80 complex subunits"	14671	protein-coding gene	gene with protein product	"INO80 complex subunit M"		"ARP5 (actin-related protein 5, yeast) homolog"			16230350	Standard	NM_024855		Approved	FLJ12785, Arp5, INO80M	uc002xjd.2	Q9H9F9	OTTHUMG00000032456	ENST00000243903.4:c.1611delT	20.37:g.37400246delT	ENSP00000243903:p.Ala537fs						p.A537fs	NM_024855.3	NP_079131.3	Q9H9F9	ARP5_HUMAN			9	1648	+		Myeloproliferative disorder(115;0.00878)	537					Q86WF7|Q8IUY5|Q8N724|Q9BRN0|Q9BVB7	Frame_Shift_Del	DEL	ENST00000243903.4	37	c.1611delT	CCDS13308.1																																																																																				0.507	ACTR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079205.2	NM_024855		10	90						10	90	---	---	---	---	-	37400246	T	-	37400246	7	5	425	1	0	1	0	1	0	0	0	0	215	1538	54	0	1645	0	ACTR5	20	37400246	Frame_Shift_Del	DEL	T	TCGA-XA-A8JR-01A-11D-A364-08	759881	37400246	25625274	26	20561											
KDM6A	7403	broad.mit.edu	37	chrX	44918544	44918545	+	Frame_Shift_Ins	INS	-	-	G																															tgctttacaggcctatatttINSgtgctgtacaattggaccat																										TCGA-XA-A8JR-01A-11D-A364-08	TCGA-XA-A8JR-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6df7e9e-c584-4526-afb2-fa4b5199b174	814a1d39-a0af-491b-bb21-8afa1dd84729	g.chrX:44918544_44918545insG	ENST00000377967.4	+	12	1068_1069	c.1027_1028insG	c.(1027-1029)tgtfs	p.C343fs	KDM6A_ENST00000536777.1_Frame_Shift_Ins_p.C343fs|KDM6A_ENST00000382899.4_Frame_Shift_Ins_p.C343fs|KDM6A_ENST00000543216.1_Frame_Shift_Ins_p.C343fs	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN	lysine (K)-specific demethylase 6A	343	Interaction with SUPT6H. {ECO:0000250}.				canonical Wnt signaling pathway (GO:0060070)|heart morphogenesis (GO:0003007)|histone H3-K4 methylation (GO:0051568)|in utero embryonic development (GO:0001701)|mesodermal cell differentiation (GO:0048333)|multicellular organism growth (GO:0035264)|neural tube closure (GO:0001843)|notochord morphogenesis (GO:0048570)|regulation of gene expression (GO:0010468)|respiratory system process (GO:0003016)|somite rostral/caudal axis specification (GO:0032525)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|histone demethylase activity (H3-K27 specific) (GO:0071558)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)	p.0?(6)|p.0(2)		NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						GGCCTATATTTGTGCTGTACAA	0.436			"D, N, F, S"		"renal, oesophageal SCC, MM"																																Colon(129;1273 1667 15230 27352 52914)	ENST00000377967.4				Rec	yes		X	Xp11.2	7403	"D, N, F, S"	"lysine (K)-specific demethylase 6A, UTX"			"E, L"			"renal, oesophageal SCC, MM"		8	Whole gene deletion(6)|No detectable mRNA/protein(2)	p.0?(6)|p.0(2)	haematopoietic_and_lymphoid_tissue(2)|oesophagus(2)|breast(2)|pancreas(2)	NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						c.(1027-1029)tgcfs		lysine (K)-specific demethylase 6A																																				SO:0001589	frameshift_variant	7403				histone H3-K4 methylation		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chrX:44918544_44918545insG	AF000992	CCDS14265.1	Xp11.2	2014-09-17	2009-04-17	2009-04-17	ENSG00000147050	ENSG00000147050		"Chromatin-modifying enzymes / K-demethylases", "Tetratricopeptide (TTC) repeat domain containing"	12637	protein-coding gene	gene with protein product		300128	"ubiquitously transcribed tetratricopeptide repeat, X chromosome"	UTX		9499428, 9381176	Standard	XM_005272655		Approved		uc004dge.4	O15550	OTTHUMG00000021402	ENST00000377967.4:c.1028dupG	X.37:g.44918545_44918545dupG	ENSP00000367203:p.Cys343fs					KDM6A_ENST00000382899.4_Frame_Shift_Ins_p.C343fs|KDM6A_ENST00000543216.1_Frame_Shift_Ins_p.C343fs|KDM6A_ENST00000536777.1_Frame_Shift_Ins_p.C343fs	p.C343fs	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN			12	1068_1069	+			343					Q52LL9|Q5JVQ7	Frame_Shift_Ins	INS	ENST00000377967.4	37	c.1027_1028insG	CCDS14265.1																																																																																				0.436	KDM6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056324.1	NM_021140		8	16						8	16	---	---	---	---	G	44918545	-	G	44918544	7	5	425	1	0	1	1	0	0	0	0	0	8137	1812	63	0	1073	0	KDM6A	23	44918544	Frame_Shift_Ins	INS	-	TCGA-XA-A8JR-01A-11D-A364-08		44918544	110352016	27	20562											
SPANXD	64648	broad.mit.edu	37	chrX	140785702	140785702	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttgattctgttctttcgggCgtggtcattcaccagttcct	4	17	10	10	2	4	1	2	1	2	0	6	1	5	1	2	2	0	3	2	2	0	6			TCGA-XA-A8JR-01A-11D-A364-08	TCGA-XA-A8JR-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6df7e9e-c584-4526-afb2-fa4b5199b174	814a1d39-a0af-491b-bb21-8afa1dd84729	g.chrX:140785702C>T	ENST00000370515.3	-	2	547	c.214G>A	c.(214-216)Gcc>Acc	p.A72T		NM_032417.2|NM_145665.1	NP_115793.1|NP_663698.1	Q9BXN6	SPNXD_HUMAN	SPANX family, member D	72						cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	9	Acute lymphoblastic leukemia(192;7.65e-05)					TTCTTTCGGGCGTGGTCATTC	0.433																																						ENST00000370515.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	9						c.(214-216)Gcc>Acc		SPANX family, member D							228	194	206					X																	140785702		2202	4289	6491	SO:0001583	missense	64648							g.chrX:140785702C>T	AJ457791	CCDS14675.1	Xq27.2	2014-06-19			ENSG00000196406	ENSG00000196406			14332	protein-coding gene	gene with protein product	"cancer/testis antigen family 11, member 4"	300670, 300671	"SPANX family, member E"	SPANXE			Standard	NM_032417		Approved	CT11.4		Q9BXN6	OTTHUMG00000022563	ENST00000370515.3:c.214G>A	X.37:g.140785702C>T	ENSP00000359546:p.Ala72Thr						p.A72T	NM_032417.2|NM_145665.1	NP_115793.1|NP_663698.1					2	547	-	Acute lymphoblastic leukemia(192;7.65e-05)							Q5JWI1	Missense_Mutation	SNP	ENST00000370515.3	37	c.214G>A	CCDS14675.1	.	.	.	.	.	.	.	.	.	.	N	7.687	0.690183	0.15039	.	.	ENSG00000196406	ENST00000370515	T	0.08008	3.14	.	.	.	.	.	.	.	.	T	0.04815	0.0130	.	.	.	0.09310	N	1	P	0.48016	0.904	B	0.39840	0.311	T	0.03910	-1.0993	6	0.66056	D	0.02	.	.	.	.	.	72	Q9BXN6	SPNXD_HUMAN	T	72	ENSP00000359546:A72T	ENSP00000359546:A72T	A	-	1	0	SPANXD	140613368	0.011000	0.17503	0.008000	0.14137	0.008000	0.06430	-2.377000	0.01069	-2.404000	0.00576	-2.435000	0.00213	GCC		0.433	SPANXD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058598.1			5	160	0	0	0	1	0	5	160					T	140785702	C	T	140785702	3	4	425	1	0	0	0	0	1	0	0	0	14988	768	27	1	83	1	SPANXD	23	140785702	Missense_Mutation	SNP	C	TCGA-XA-A8JR-01A-11D-A364-08	95867158	140785702	14484858	28	20563											
MAGEA10	4109	broad.mit.edu	37	chrX	151303216	151303216	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accccacagaaactcataccGtgcaggatcactgccaggca	13	5	8	15	1	2	1	2	0	0	1	2	2	2	2	4	2	4	2	4	2	2	1	rs149591320	byFrequency	TCGA-XA-A8JR-01A-11D-A364-08	TCGA-XA-A8JR-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6df7e9e-c584-4526-afb2-fa4b5199b174	814a1d39-a0af-491b-bb21-8afa1dd84729	g.chrX:151303216G>A	ENST00000370323.4	-	4	1193	c.877C>T	c.(877-879)Cgg>Tgg	p.R293W	MAGEA10_ENST00000244096.3_Missense_Mutation_p.R293W|RP11-1007I13.4_ENST00000509345.2_RNA	NM_001251828.1|NM_021048.4	NP_001238757.1|NP_066386	P43363	MAGAA_HUMAN	melanoma antigen family A, 10	293	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.					nucleus (GO:0005634)		p.R293R(1)		endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					AACTCATACCGTGCAGGATCA	0.517													G|||	1	0.000264901	0	0	3775	,	,		13333	0.001		0	False		,,,				2504	0					ENST00000370323.4																			1	Substitution - coding silent(1)	p.R293R(1)	lung(1)	endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						c.(877-879)Cgg>Tgg		melanoma antigen family A, 10		G	TRP/ARG,,TRP/ARG	0,3835		0,0,0,1632,571	102	99	100		877,,877	-1.9	0	X	dbSNP_134	100	3,6725		0,1,2,2427,1870	no	missense,intron,missense	MAGEA10,MAGEA10-MAGEA5	NM_001011543.1,NM_001204811.1,NM_021048.3	101,,101	0,1,2,4059,2441	AA,AG,A,GG,G		0.0446,0.0,0.0284	probably-damaging,,probably-damaging	293/370,,293/370	151303216	3,10560	2203	4300	6503	SO:0001583	missense	4109							g.chrX:151303216G>A		CCDS14705.1	Xq28	2009-03-13			ENSG00000124260	ENSG00000124260			6797	protein-coding gene	gene with protein product	"MAGE-10 antigen", "melanoma-associated antigen 10", "cancer/testis antigen family 1, member 10"	300343		MAGE10		8575766	Standard	NM_001011543		Approved	MGC10599, CT1.10	uc004ffl.3	P43363	OTTHUMG00000024180	ENST00000370323.4:c.877C>T	X.37:g.151303216G>A	ENSP00000359347:p.Arg293Trp					MAGEA10_ENST00000244096.3_Missense_Mutation_p.R293W|RP11-1007I13.4_ENST00000509345.2_RNA	p.R293W	NM_001251828.1|NM_021048.4	NP_001238757.1|NP_066386.2	P43363	MAGAA_HUMAN			4	1193	-	Acute lymphoblastic leukemia(192;6.56e-05)		293			MAGE.			Missense_Mutation	SNP	ENST00000370323.4	37	c.877C>T	CCDS14705.1	.	.	.	.	.	.	.	.	.	.	G	13.81	2.347071	0.41599	0.0	4.46E-4	ENSG00000124260	ENST00000370323;ENST00000244096	T;T	0.05199	3.48;3.48	2.6	-1.85	0.07784	.	0.581457	0.16418	N	0.215280	T	0.18002	0.0432	M	0.91196	3.185	0.09310	N	1	D	0.89917	1.0	P	0.62089	0.898	T	0.13388	-1.0511	10	0.38643	T	0.18	.	0.248	0.00201	0.2968:0.2035:0.2913:0.2084	.	293	P43363	MAGAA_HUMAN	W	293	ENSP00000359347:R293W;ENSP00000244096:R293W	ENSP00000244096:R293W	R	-	1	2	MAGEA10	151053872	0.000000	0.05858	0.000000	0.03702	0.301000	0.27625	-0.102000	0.10956	-0.659000	0.05359	0.292000	0.19580	CGG		0.517	MAGEA10-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060916.3	NM_021048		13	45	0	0	0	1	0	13	45					A	151303216	G	A	151303216	3	1	425	1	0	0	0	0	1	0	0	0	9164	1144	40	1	236	1	MAGEA10	23	151303216	Missense_Mutation	SNP	G	TCGA-XA-A8JR-01A-11D-A364-08	10517514	151303216	3967344	29	20564											
AURKAIP1	54998	broad.mit.edu	37	chr1	1309670	1309670	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctctccagggggctgacggAcatcttcctggggaccagca	7	7	14	13	1	2	1	0	1	2	0	4	3	3	3	3	5	1	3	3	5	0	1			TCGA-XJ-A83F-01A-11D-A34U-08	TCGA-XJ-A83F-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaa16e66-2563-4c7c-8209-3e501185226e	d7ad26f0-ee2d-4a35-9f25-c860af727cbd	g.chr1:1309670A>C	ENST00000338370.3	-	2	608	c.208T>G	c.(208-210)Tcc>Gcc	p.S70A	AURKAIP1_ENST00000489799.1_5'UTR|AURKAIP1_ENST00000378853.3_Missense_Mutation_p.S70A|AURKAIP1_ENST00000321751.5_Missense_Mutation_p.S70A|AURKAIP1_ENST00000338338.5_Missense_Mutation_p.S70A			Q9NWT8	AKIP_HUMAN	aurora kinase A interacting protein 1	70					negative regulation of mitosis (GO:0045839)|positive regulation of proteolysis (GO:0045862)	intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|nucleus (GO:0005634)				kidney(1)|lung(2)	3	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;5.82e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.77e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		GGGCTGACGGACATCTTCCTG	0.677																																						ENST00000338370.3																			0				kidney(1)|lung(2)	3						c.(208-210)Tcc>Gcc		aurora kinase A interacting protein 1							29	35	33					1																	1309670		2203	4294	6497	SO:0001583	missense	54998				negative regulation of mitosis|positive regulation of proteolysis	mitochondrion|nucleus	protein binding	g.chr1:1309670A>C		CCDS25.1	1p36.33	2014-02-12			ENSG00000175756	ENSG00000175756			24114	protein-coding gene	gene with protein product		609183				12244051	Standard	NM_017900		Approved	AKIP, AIP, FLJ20608	uc009vkb.1	Q9NWT8	OTTHUMG00000001413	ENST00000338370.3:c.208T>G	1.37:g.1309670A>C	ENSP00000342676:p.Ser70Ala					AURKAIP1_ENST00000321751.5_Missense_Mutation_p.S70A|AURKAIP1_ENST00000378853.3_Missense_Mutation_p.S70A|AURKAIP1_ENST00000489799.1_5'UTR|AURKAIP1_ENST00000338338.5_Missense_Mutation_p.S70A	p.S70A			Q9NWT8	AKIP_HUMAN		Epithelial(90;5.82e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.77e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)	2	608	-	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)	70					Q5TA36|Q8TBD3	Missense_Mutation	SNP	ENST00000338370.3	37	c.208T>G	CCDS25.1	.	.	.	.	.	.	.	.	.	.	a	13.39	2.223405	0.39300	.	.	ENSG00000175756	ENST00000338338;ENST00000338370;ENST00000321751;ENST00000378853	T;T;T;T	0.34072	1.38;1.38;1.38;1.38	5.16	1.48	0.22813	.	0.231837	0.37053	N	0.002273	T	0.27933	0.0688	L	0.42487	1.325	0.24072	N	0.995973	B	0.06786	0.001	B	0.06405	0.002	T	0.19549	-1.0302	10	0.25751	T	0.34	-7.4649	12.022	0.53348	0.3736:0.6264:0.0:0.0	.	70	Q9NWT8	AKIP_HUMAN	A	70	ENSP00000340656:S70A;ENSP00000342676:S70A;ENSP00000319778:S70A;ENSP00000368130:S70A	ENSP00000319778:S70A	S	-	1	0	AURKAIP1	1299533	1.000000	0.71417	0.982000	0.44146	0.882000	0.50991	1.208000	0.32345	0.363000	0.24346	0.533000	0.62120	TCC		0.677	AURKAIP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008273.1	NM_017900		6	29	0	0	0	1	0	6	29					C	1309670	A	C	1309670	3	2	426	1	0	0	0	0	1	0	0	0	1222	275	10	5	399	5	AURKAIP1	1	1309670	Missense_Mutation	SNP	A	TCGA-XJ-A83F-01A-11D-A34U-08		1309670	247940951	1	20565											
FCRL3	115352	broad.mit.edu	37	chr1	157668405	157668405	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aggattgaggagaagtacagCttttggggccacccctaaac	12	8	12	9	0	0	2	0	1	0	1	0	4	0	3	3	4	3	2	3	4	4	5			TCGA-XJ-A83F-01A-11D-A34U-08	TCGA-XJ-A83F-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaa16e66-2563-4c7c-8209-3e501185226e	d7ad26f0-ee2d-4a35-9f25-c860af727cbd	g.chr1:157668405C>G	ENST00000368184.3	-	4	358	c.67G>C	c.(67-69)Gct>Cct	p.A23P	FCRL3_ENST00000473231.1_5'Flank|FCRL3_ENST00000368186.5_Missense_Mutation_p.A23P|RP11-367J7.3_ENST00000453692.1_RNA	NM_052939.3	NP_443171.2	Q96P31	FCRL3_HUMAN	Fc receptor-like 3	23	Ig-like C2-type 1.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(1)|large_intestine(13)|lung(31)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)	69	all_hematologic(112;0.0378)					AGAAGTACAGCTTTTGGGGCC	0.527																																						ENST00000368184.3																			0				autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(1)|large_intestine(13)|lung(31)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)	69						c.(67-69)Gct>Cct		Fc receptor-like 3							85	81	82					1																	157668405		2203	4300	6503	SO:0001583	missense	115352					integral to membrane|plasma membrane	receptor activity	g.chr1:157668405C>G	AF459027	CCDS1167.1	1q21-q22	2013-01-11			ENSG00000160856	ENSG00000160856		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	18506	protein-coding gene	gene with protein product		606510				11493702, 12014205	Standard	XR_241065		Approved	FCRH3, IRTA3, IFGP3, SPAP2a, SPAP2, SPAP2b, SPAP2c, SPAP2d, SPAP2e, CD307c	uc001frb.3	Q96P31	OTTHUMG00000019400	ENST00000368184.3:c.67G>C	1.37:g.157668405C>G	ENSP00000357167:p.Ala23Pro					FCRL3_ENST00000368186.5_Missense_Mutation_p.A23P	p.A23P	NM_052939.3	NP_443171.2	Q96P31	FCRL3_HUMAN			4	358	-	all_hematologic(112;0.0378)		23			Ig-like C2-type 1.		A0N0M4|A8MTH7|D3DVD2|Q5VXZ8|Q8N6S2|Q96LA4|Q96P27|Q96P28|Q96P29|Q96P30	Missense_Mutation	SNP	ENST00000368184.3	37	c.67G>C	CCDS1167.1	.	.	.	.	.	.	.	.	.	.	C	10.61	1.399583	0.25291	.	.	ENSG00000160856	ENST00000368186;ENST00000368184;ENST00000292392	T;T	0.02050	4.48;4.48	5.46	3.53	0.40419	Immunoglobulin-like (1);	1.851380	0.03299	N	0.188751	T	0.00815	0.0027	L	0.40543	1.245	0.22701	N	0.998831	B;B	0.16166	0.016;0.007	B;B	0.22880	0.042;0.038	T	0.50734	-0.8793	10	0.09084	T	0.74	.	8.1319	0.31033	0.0:0.6298:0.2863:0.0838	.	23;23	Q96P31;Q96P31-6	FCRL3_HUMAN;.	P	23	ENSP00000357169:A23P;ENSP00000357167:A23P	ENSP00000292392:A23P	A	-	1	0	FCRL3	155935029	0.979000	0.34478	0.891000	0.34965	0.019000	0.09904	1.434000	0.34958	1.303000	0.44873	-0.218000	0.12543	GCT		0.527	FCRL3-006	NOVEL	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051419.2	NM_052939		11	53	0	0	0	1	0	11	53					G	157668405	C	G	157668405	3	3	426	1	0	0	0	0	1	0	0	0	5796	797	28	5	2185	5	FCRL3	1	157668405	Missense_Mutation	SNP	C	TCGA-XJ-A83F-01A-11D-A34U-08	156358735	157668405	91582216	2	20566											
METTL13	51603	broad.mit.edu	37	chr1	171756946	171756946	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caagactgcagccccttgagCggtgactatgtcattgagga	10	9	12	10	1	1	4	1	3	0	1	1	5	1	5	2	2	3	1	2	2	2	3	rs369151040		TCGA-XJ-A83F-01A-11D-A34U-08	TCGA-XJ-A83F-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaa16e66-2563-4c7c-8209-3e501185226e	d7ad26f0-ee2d-4a35-9f25-c860af727cbd	g.chr1:171756946C>T	ENST00000361735.3	+	4	1451	c.1185C>T	c.(1183-1185)agC>agT	p.S395S	METTL13_ENST00000362019.3_Silent_p.S309S|METTL13_ENST00000367737.5_Silent_p.S239S|METTL13_ENST00000458517.1_Silent_p.S394S	NM_015935.4	NP_057019.3	Q8N6R0	MET13_HUMAN	methyltransferase like 13	395							methyltransferase activity (GO:0008168)			breast(3)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(8)|lung(17)|stomach(3)	41						GCCCCTTGAGCGGTGACTATG	0.547																																						ENST00000361735.3																			0				breast(3)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(8)|lung(17)|stomach(3)	41						c.(1183-1185)agC>agT		methyltransferase like 13		C	,,	0,4406		0,0,2203	104	85	91		717,927,1185	-3	0.9	1		91	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous	METTL13	NM_001007239.1,NM_014955.2,NM_015935.4	,,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,,	239/544,309/614,395/700	171756946	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	51603						methyltransferase activity|protein binding	g.chr1:171756946C>T	AF132936	CCDS1299.1, CCDS1300.1, CCDS30936.1	1q24-q25.3	2009-02-23	2009-02-23	2009-02-23	ENSG00000010165	ENSG00000010165			24248	protein-coding gene	gene with protein product			"KIAA0859"	KIAA0859		10810093, 10048485	Standard	NM_001007239		Approved	CGI-01	uc001ghz.3	Q8N6R0	OTTHUMG00000034912	ENST00000361735.3:c.1185C>T	1.37:g.171756946C>T						METTL13_ENST00000362019.3_Silent_p.S309S|METTL13_ENST00000458517.1_Silent_p.S394S|METTL13_ENST00000367737.5_Silent_p.S239S	p.S395S	NM_015935.4	NP_057019.3	Q8N6R0	MTL13_HUMAN			4	1451	+			395					A6NFK0|A8K6S5|O94940|Q53EZ6|Q5TGP9|Q5TGQ0|Q8N2P8|Q96J11|Q96SQ0|Q9Y2Z1|Q9Y3M6	Silent	SNP	ENST00000361735.3	37	c.1185C>T	CCDS1299.1																																																																																				0.547	METTL13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084528.5	NM_014955		13	15	0	0	0	1	0	13	15					T	171756946	C	T	171756946	2	4	426	1	0	0	0	0	0	0	0	1	9497	767	27	1		1	METTL13	1	171756946	Silent	SNP	C	TCGA-XJ-A83F-01A-11D-A34U-08	14088541	171756946	77493675	3	20567											
ALMS1	7840	broad.mit.edu	37	chr2	73678510	73678510	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aggacctttaggttccagtgCacttggagagaagcccatta	11	10	11	9	0	0	1	0	0	0	1	1	4	1	3	3	3	2	2	3	3	3	5			TCGA-XJ-A83F-01A-11D-A34U-08	TCGA-XJ-A83F-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaa16e66-2563-4c7c-8209-3e501185226e	d7ad26f0-ee2d-4a35-9f25-c860af727cbd	g.chr2:73678510C>T	ENST00000264448.6	+	8	4964	c.4853C>T	c.(4852-4854)gCa>gTa	p.A1618V	ALMS1_ENST00000377715.1_Missense_Mutation_p.A1618V|ALMS1_ENST00000409009.1_Missense_Mutation_p.A1576V	NM_015120.4	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	1618	34 X 47 AA approximate tandem repeat.				endosomal transport (GO:0016197)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of stress fiber assembly (GO:0051492)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						GGTTCCAGTGCACTTGGAGAG	0.473																																						ENST00000264448.6																			0				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						c.(4852-4854)gCa>gTa		Alstrom syndrome 1							78	79	78					2																	73678510		1865	4101	5966	SO:0001583	missense	7840				G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole		g.chr2:73678510C>T	AB002326	CCDS42697.1	2p13.1	2014-09-17			ENSG00000116127	ENSG00000116127			428	protein-coding gene	gene with protein product		606844				9063741	Standard	NM_015120		Approved	KIAA0328	uc002sje.1	Q8TCU4	OTTHUMG00000152812	ENST00000264448.6:c.4853C>T	2.37:g.73678510C>T	ENSP00000264448:p.Ala1618Val					ALMS1_ENST00000377715.1_Missense_Mutation_p.A1618V|ALMS1_ENST00000409009.1_Missense_Mutation_p.A1576V	p.A1618V	NM_015120.4	NP_055935.4	Q8TCU4	ALMS1_HUMAN			8	4964	+			1618			34 X 47 AA approximate tandem repeat.		Q53S05|Q580Q8|Q86VP9|Q9Y4G4	Missense_Mutation	SNP	ENST00000264448.6	37	c.4853C>T	CCDS42697.1	.	.	.	.	.	.	.	.	.	.	C	9.449	1.090186	0.20390	.	.	ENSG00000116127	ENST00000409009;ENST00000264448;ENST00000377715	T;T;T	0.16597	3.23;3.23;2.33	3.64	3.64	0.41730	.	2.158870	0.02843	N	0.128136	T	0.12732	0.0309	N	0.22421	0.69	0.09310	N	1	P;P;P	0.47302	0.893;0.628;0.702	B;B;B	0.40066	0.318;0.16;0.175	T	0.09100	-1.0690	10	0.06891	T	0.86	.	11.112	0.48239	0.0:1.0:0.0:0.0	.	1618;1576;1618	Q8TCU4-3;B8ZZJ3;Q8TCU4	.;.;ALMS1_HUMAN	V	1576;1618;1618	ENSP00000386627:A1576V;ENSP00000264448:A1618V;ENSP00000366944:A1618V	ENSP00000264448:A1618V	A	+	2	0	ALMS1	73532018	0.000000	0.05858	0.025000	0.17156	0.266000	0.26442	0.044000	0.13992	2.316000	0.78162	0.462000	0.41574	GCA		0.473	ALMS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000327776.1	NM_015120		14	93	0	0	0	1	0	14	93					T	73678510	C	T	73678510	3	4	426	1	0	0	0	0	1	0	0	0	535	710	25	3	4883	3	ALMS1	2	73678510	Missense_Mutation	SNP	C	TCGA-XJ-A83F-01A-11D-A34U-08		73678510	169520863	4	20568											
TTN	7273	broad.mit.edu	37	chr2	179592369	179592369	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacatcattggtaacatggcAagtatactgtccagtcttag	13	12	8	8	0	2	0	1	0	1	0	3	0	3	0	1	2	3	3	1	2	6	5			TCGA-XJ-A83F-01A-11D-A34U-08	TCGA-XJ-A83F-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaa16e66-2563-4c7c-8209-3e501185226e	d7ad26f0-ee2d-4a35-9f25-c860af727cbd	g.chr2:179592369A>G	ENST00000591111.1	-	66	19209	c.18985T>C	c.(18985-18987)Tgc>Cgc	p.C6329R	RP11-171I2.1_ENST00000590024.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000589042.1_Missense_Mutation_p.C6646R|TTN_ENST00000342992.6_Missense_Mutation_p.C5402R			Q8WZ42	TITIN_HUMAN	titin	13105	Ig-like 44.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GTAACATGGCAAGTATACTGT	0.423																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(19936-19938)Tgc>Cgc		titin							199	203	202					2																	179592369		2062	4214	6276	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179592369A>G	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.18985T>C	2.37:g.179592369A>G	ENSP00000465570:p.Cys6329Arg					TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.C5402R|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.C6329R	p.C6646R	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		68	20160	-			6329			Ig-like 48.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.19936T>C		.	.	.	.	.	.	.	.	.	.	A	12.07	1.826714	0.32329	.	.	ENSG00000155657	ENST00000342992	T	0.64803	-0.12	5.99	5.99	0.97316	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.88058	0.6335	H	0.98721	4.31	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.92817	0.6269	9	0.87932	D	0	.	16.4943	0.84223	1.0:0.0:0.0:0.0	.	6329	Q8WZ42	TITIN_HUMAN	R	5402	ENSP00000343764:C5402R	ENSP00000343764:C5402R	C	-	1	0	TTN	179300614	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	9.339000	0.96797	2.291000	0.77112	0.533000	0.62120	TGC		0.423	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		70	136	0	0	0	1	0	70	136					G	179592369	A	G	179592369	3	3	426	1	0	0	0	0	1	0	0	0	16732	130	5	4	84773	4	TTN	2	179592369	Missense_Mutation	SNP	A	TCGA-XJ-A83F-01A-11D-A34U-08	105913859	179592369	63607004	5	20569											
ZNF445	353274	broad.mit.edu	37	chr3	44488987	44488987	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggcatgcttcttcttatgaaCaataaaggctgacctatagg	12	12	9	8	0	2	2	0	2	2	0	2	2	2	2	1	3	2	3	1	3	7	6			TCGA-XJ-A83F-01A-11D-A34U-08	TCGA-XJ-A83F-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaa16e66-2563-4c7c-8209-3e501185226e	d7ad26f0-ee2d-4a35-9f25-c860af727cbd	g.chr3:44488987C>A	ENST00000396077.2	-	8	2523	c.2176G>T	c.(2176-2178)Gtt>Ttt	p.V726F	ZNF445_ENST00000425708.2_Missense_Mutation_p.V726F	NM_181489.5	NP_852466.1	P59923	ZN445_HUMAN	zinc finger protein 445	726					transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|skin(3)	31				KIRC - Kidney renal clear cell carcinoma(197;0.0514)|Kidney(197;0.0646)		TTCTTATGAACAATAAAGGCT	0.458																																						ENST00000425708.2																			0				breast(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|skin(3)	31						c.(2176-2178)Gtt>Ttt		zinc finger protein 445							111	110	110					3																	44488987		2203	4300	6503	SO:0001583	missense	353274				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr3:44488987C>A	AY262260	CCDS2713.1	3p21.32	2013-01-09	2003-10-07		ENSG00000185219	ENSG00000185219		"Zinc fingers, C2H2-type", "-", "-", "-"	21018	protein-coding gene	gene with protein product			"zinc finger protein 168"	ZNF168		7814019	Standard	NM_181489		Approved	ZKSCAN15, ZSCAN47	uc003cnf.2	P59923	OTTHUMG00000133042	ENST00000396077.2:c.2176G>T	3.37:g.44488987C>A	ENSP00000379387:p.Val726Phe					ZNF445_ENST00000396077.2_Missense_Mutation_p.V726F	p.V726F			P59923	ZN445_HUMAN		KIRC - Kidney renal clear cell carcinoma(197;0.0514)|Kidney(197;0.0646)	7	2517	-			726					Q3MJD1	Missense_Mutation	SNP	ENST00000396077.2	37	c.2176G>T	CCDS2713.1	.	.	.	.	.	.	.	.	.	.	c	13.54	2.267694	0.40095	.	.	ENSG00000185219	ENST00000425708;ENST00000396077	T;T	0.61158	0.13;0.13	3.57	0.31	0.15825	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.505944	0.16628	N	0.206171	T	0.28134	0.0694	N	0.08118	0	0.09310	N	1	B;B	0.12013	0.003;0.005	B;B	0.08055	0.003;0.003	T	0.12451	-1.0547	10	0.52906	T	0.07	.	0.5583	0.00674	0.3776:0.2631:0.1462:0.2132	.	714;726	B7ZKX2;P59923	.;ZN445_HUMAN	F	726	ENSP00000413073:V726F;ENSP00000379387:V726F	ENSP00000379387:V726F	V	-	1	0	ZNF445	44463991	0.000000	0.05858	0.070000	0.20053	0.953000	0.61014	-0.649000	0.05384	0.033000	0.15463	0.306000	0.20318	GTT		0.458	ZNF445-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256647.2	NM_181489		52	117	1	0	9.45407e-15	1	9.45407e-15	52	117					A	44488987	C	A	44488987	3	1	426	1	0	0	0	0	1	0	0	0	17915	478	17	5	923	5	ZNF445	3	44488987	Missense_Mutation	SNP	C	TCGA-XJ-A83F-01A-11D-A34U-08		44488987	153533443	6	20570											
COL7A1	1294	broad.mit.edu	37	chr3	48611982	48611982	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctcctttgatgcctggcacaCcctgaaggcagagtgtcgtg	7	10	12	12	1	0	3	0	2	0	1	2	3	1	3	3	2	1	2	3	2	1	1			TCGA-XJ-A83F-01A-11D-A34U-08	TCGA-XJ-A83F-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaa16e66-2563-4c7c-8209-3e501185226e	d7ad26f0-ee2d-4a35-9f25-c860af727cbd	g.chr3:48611982C>T	ENST00000328333.8	-	78	6502	c.6395G>A	c.(6394-6396)gGt>gAt	p.G2132D	COL7A1_ENST00000454817.1_Splice_Site_p.G2100D	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	2132	Triple-helical region.		G -> D (in RDEB).		cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|collagen type VII trimer (GO:0005590)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	serine-type endopeptidase inhibitor activity (GO:0004867)			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		GCCTGGCACACCCTGAAGGCA	0.627																																						ENST00000328333.8																			0				NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137	GRCh37	CM992850	COL7A1	M		c.e78-1		collagen, type VII, alpha 1							59	53	55					3																	48611982		2203	4300	6503	SO:0001630	splice_region_variant	1294				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity	g.chr3:48611982C>T	L02870	CCDS2773.1	3p21.1	2014-09-17	2008-08-01		ENSG00000114270	ENSG00000114270		"Collagens", "Fibronectin type III domain containing"	2214	protein-coding gene	gene with protein product	"collagen VII, alpha-1 polypeptide", "LC collagen"	120120	"epidermolysis bullosa, dystrophic, dominant and recessive"	EBDCT, EBD1, EBR1		1871109	Standard	NM_000094		Approved		uc003ctz.2	Q02388	OTTHUMG00000133541	ENST00000328333.8:c.6394-1G>A	3.37:g.48611982C>T						COL7A1_ENST00000454817.1_Splice_Site_p.G2100_splice	p.G2132_splice	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)	78	6502	-			2132		G -> D (in RDEB).	Triple-helical region.		Q14054|Q16507	Splice_Site	SNP	ENST00000328333.8	37	c.6393_splice	CCDS2773.1	.	.	.	.	.	.	.	.	.	.	C	12.76	2.033565	0.35893	.	.	ENSG00000114270	ENST00000328333;ENST00000454817	D;D	0.99619	-6.28;-6.28	4.71	3.83	0.44106	.	0.000000	0.40908	D	0.000984	D	0.99591	0.9852	H	0.98936	4.375	0.47123	D	0.999329	P	0.47604	0.898	P	0.48114	0.567	D	0.98032	1.0377	10	0.72032	D	0.01	.	11.9887	0.53163	0.0:0.9148:0.0:0.0852	.	2132	Q02388	CO7A1_HUMAN	D	2132;2100	ENSP00000332371:G2132D;ENSP00000412569:G2100D	ENSP00000332371:G2132D	G	-	2	0	COL7A1	48586986	1.000000	0.71417	0.867000	0.34043	0.067000	0.16453	6.199000	0.72112	1.342000	0.45619	-0.251000	0.11542	GGT		0.627	COL7A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257519.1	NM_000094	Missense_Mutation	9	27	0	0	0	1	0	9	27					T	48611982	C	T	48611982	5	4	426	1	0	0	0	0	0	0	1	0	3704	521	18	3	2603	3	COL7A1	3	48611982	Splice_Site	SNP	C	TCGA-XJ-A83F-01A-11D-A34U-08	4122995	48611982	149410448	7	20571											
MAGI1	9223	broad.mit.edu	37	chr3	65425585	65425585	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgctgctgctgctgctgctgCtgctgttgctgctgctgttg	0	16	14	11	0	0	0	0	0	0	0	0	0	0	0	0	0	11	13	0	0	0	2	rs374381483		TCGA-XJ-A83F-01A-11D-A34U-08	TCGA-XJ-A83F-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaa16e66-2563-4c7c-8209-3e501185226e	d7ad26f0-ee2d-4a35-9f25-c860af727cbd	g.chr3:65425585C>T	ENST00000497477.2	-	9	1238	c.1239G>A	c.(1237-1239)caG>caA	p.Q413Q	MAGI1_ENST00000330909.8_Silent_p.Q413Q|MAGI1_ENST00000470990.1_5'UTR|MAGI1_ENST00000483466.1_Silent_p.Q413Q|MAGI1_ENST00000402939.2_Silent_p.Q413Q			Q96QZ7	MAGI1_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 1	413	Poly-Gln.				cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|neuron death (GO:0070997)|protein complex assembly (GO:0006461)	cell junction (GO:0030054)|cell projection (GO:0042995)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	alpha-actinin binding (GO:0051393)|ATP binding (GO:0005524)|protein C-terminus binding (GO:0008022)			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5)	51		Lung NSC(201;0.0016)		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)		gctgctgctgctgctgttgct	0.537											OREG0015658	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000330909.8																			0				breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5)	51						c.(1237-1239)caG>caA		membrane associated guanylate kinase, WW and PDZ domain containing 1							58	58	58					3																	65425585		2194	4275	6469	SO:0001819	synonymous_variant	9223				cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly	tight junction	ATP binding|protein C-terminus binding	g.chr3:65425585C>T	AB010894	CCDS33780.1, CCDS33781.1, CCDS2904.1	3p14.1	2009-10-06	2005-05-10	2005-05-10	ENSG00000151276	ENSG00000151276			946	protein-coding gene	gene with protein product		602625	"BAI1-associated protein 1"	BAIAP1		9647739, 9225980	Standard	XM_005265563		Approved	BAP1, MAGI-1, TNRC19, AIP3, WWP3	uc003dmn.3	Q96QZ7	OTTHUMG00000157554	ENST00000497477.2:c.1239G>A	3.37:g.65425585C>T			OREG0015658	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1084	MAGI1_ENST00000483466.1_Silent_p.Q413Q|MAGI1_ENST00000497477.2_Silent_p.Q413Q|MAGI1_ENST00000402939.2_Silent_p.Q413Q|MAGI1_ENST00000470990.1_5'UTR	p.Q413Q	NM_015520.1	NP_056335.1	Q96QZ7	MAGI1_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)	9	1238	-		Lung NSC(201;0.0016)	413			Poly-Gln.		A8K188|O00309|O43863|O75085|Q96QZ8|Q96QZ9	Silent	SNP	ENST00000497477.2	37	c.1239G>A		.	.	.	.	.	.	.	.	.	.	c	3.068	-0.191851	0.06299	.	.	ENSG00000151276	ENST00000460329	.	.	.	3.77	0.926	0.19430	.	.	.	.	.	T	0.42539	0.1207	.	.	.	0.40284	D	0.978435	.	.	.	.	.	.	T	0.25537	-1.0129	4	.	.	.	.	1.7198	0.02909	0.14:0.458:0.1372:0.2649	.	.	.	.	N	294	.	.	S	-	2	0	MAGI1	65400625	0.998000	0.40836	0.281000	0.24762	0.028000	0.11728	0.481000	0.22260	0.070000	0.16634	-0.142000	0.14014	AGC		0.537	MAGI1-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000349132.2	NM_004742		5	110	0	0	0	1	0	5	110					T	65425585	C	T	65425585	2	4	426	1	0	0	0	0	0	0	0	1	9190	796	28	3		3	MAGI1	3	65425585	Silent	SNP	C	TCGA-XJ-A83F-01A-11D-A34U-08	16813603	65425585	132596845	8	20572											
MYH15	22989	broad.mit.edu	37	chr3	108175727	108175727	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gaaccaagtaagggtccagtAtacctggaaaaaaaaaagag	20	5	10	6	0	0	1	0	0	0	1	1	3	1	2	3	2	2	2	3	2	10	3			TCGA-XJ-A83F-01A-11D-A34U-08	TCGA-XJ-A83F-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaa16e66-2563-4c7c-8209-3e501185226e	d7ad26f0-ee2d-4a35-9f25-c860af727cbd	g.chr3:108175727A>G	ENST00000273353.3	-	20	2140	c.2084T>C	c.(2083-2085)aTa>aCa	p.I695T	MYH15_ENST00000495753.2_5'UTR	NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN	myosin, heavy chain 15	695	Myosin motor.					cytoplasm (GO:0005737)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						AGGGTCCAGTATACCTGGAAA	0.418																																						ENST00000273353.3																			0				NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						c.(2083-2085)aTa>aCa		myosin, heavy chain 15							106	97	100					3																	108175727		1830	4084	5914	SO:0001583	missense	22989					myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity	g.chr3:108175727A>G	AB023217	CCDS43127.1	3q13	2011-09-27	2006-09-29		ENSG00000144821	ENSG00000144821		"Myosins / Myosin superfamily : Class II"	31073	protein-coding gene	gene with protein product		609929	"myosin, heavy polypeptide 15"			15014174, 15042088	Standard	NM_014981		Approved	KIAA1000	uc003dxa.1	Q9Y2K3	OTTHUMG00000159226	ENST00000273353.3:c.2084T>C	3.37:g.108175727A>G	ENSP00000273353:p.Ile695Thr					MYH15_ENST00000495753.2_5'UTR	p.I695T	NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN			20	2140	-			695			Myosin head-like.			Missense_Mutation	SNP	ENST00000273353.3	37	c.2084T>C	CCDS43127.1	.	.	.	.	.	.	.	.	.	.	A	10.33	1.319456	0.23994	.	.	ENSG00000144821	ENST00000273353	D	0.86497	-2.13	5.97	0.581	0.17407	Myosin head, motor domain (2);	.	.	.	.	T	0.74935	0.3782	N	0.20610	0.595	0.09310	N	1	B	0.06786	0.001	B	0.10450	0.005	T	0.62459	-0.6850	9	0.66056	D	0.02	.	4.0245	0.09680	0.456:0.0:0.1924:0.3517	.	695	Q9Y2K3	MYH15_HUMAN	T	695	ENSP00000273353:I695T	ENSP00000273353:I695T	I	-	2	0	MYH15	109658417	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.224000	0.17738	-0.117000	0.11872	0.482000	0.46254	ATA		0.418	MYH15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353935.1	XM_036988		55	73	0	0	0	1	0	55	73					G	108175727	A	G	108175727	3	3	426	1	0	0	0	0	1	0	0	0	10034	449	16	4	3848	4	MYH15	3	108175727	Missense_Mutation	SNP	A	TCGA-XJ-A83F-01A-11D-A34U-08	42750142	108175727	89846703	9	20573											
AASDH	132949	broad.mit.edu	37	chr4	57216169	57216171	+	In_Frame_Del	DEL	AAG	AAG	-																															aggaatctccaccactatttAagaagagtgactcatcagga																										TCGA-XJ-A83F-01A-11D-A34U-08	TCGA-XJ-A83F-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaa16e66-2563-4c7c-8209-3e501185226e	d7ad26f0-ee2d-4a35-9f25-c860af727cbd	g.chr4:57216169_57216171delAAG	ENST00000205214.6	-	11	1926_1928	c.1746_1748delCTT	c.(1744-1749)ttctta>tta	p.F582del	AASDH_ENST00000602986.1_In_Frame_Del_p.F429del|AASDH_ENST00000513376.1_In_Frame_Del_p.F482del|AASDH_ENST00000451613.1_In_Frame_Del_p.F582del|AASDH_ENST00000502617.1_In_Frame_Del_p.F582del|AASDH_ENST00000434343.2_In_Frame_Del_p.F97del	NM_181806.2	NP_861522.2	Q4L235	ACSF4_HUMAN	aminoadipate-semialdehyde dehydrogenase	582	Acyl carrier. {ECO:0000255|PROSITE- ProRule:PRU00258}.				fatty acid metabolic process (GO:0006631)		acid-thiol ligase activity (GO:0016878)|ATP binding (GO:0005524)			endometrium(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	40	Glioma(25;0.08)|all_neural(26;0.101)	all_hematologic(202;0.0017)				ACCACTATTTAAGAAGAGTGACT	0.414																																						ENST00000205214.6																			0				endometrium(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	40						c.(1744-1749)tta>tt		aminoadipate-semialdehyde dehydrogenase																																				SO:0001651	inframe_deletion	132949				fatty acid metabolic process		acid-thiol ligase activity|acyl carrier activity|ATP binding|cofactor binding	g.chr4:57216169_57216171delAAG	AF516672	CCDS3504.1, CCDS68705.1, CCDS68706.1, CCDS75126.1, CCDS75127.1	4q12	2010-12-14			ENSG00000157426	ENSG00000157426	1.2.1.31	"Acyl-CoA synthetase family"	23993	protein-coding gene	gene with protein product	"acyl-CoA synthetase family member 4"	614365				15865210, 12712191, 17762044	Standard	XM_005265721		Approved	NRPS998, LYS2, ACSF4	uc003hbn.3	Q4L235	OTTHUMG00000128841	ENST00000205214.6:c.1746_1748delCTT	4.37:g.57216172_57216174delAAG	ENSP00000205214:p.Phe582del					AASDH_ENST00000434343.2_In_Frame_Del_p.FL97del|AASDH_ENST00000451613.1_In_Frame_Del_p.FL582del|AASDH_ENST00000502617.1_In_Frame_Del_p.FL582del|AASDH_ENST00000513376.1_In_Frame_Del_p.FL482del|AASDH_ENST00000602986.1_In_Frame_Del_p.FL429del	p.FL582del	NM_181806.2	NP_861522.2	Q4L235	ACSF4_HUMAN			11	1926_1928	-	Glioma(25;0.08)|all_neural(26;0.101)	all_hematologic(202;0.0017)	582			Acyl carrier.		A5D8V3|A5PL22|Q63HK2|Q63HR7|Q6IPP8|Q6TFZ6|Q7Z5Y3|Q96BW4|Q9P064	In_Frame_Del	DEL	ENST00000205214.6	37	c.1746_1748delCTT	CCDS3504.1																																																																																				0.414	AASDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250780.1	NM_181806		14	26						14	26	---	---	---	---	-	57216171	AAG	-	57216169	7	5	426	1	0	1	0	1	0	0	0	0	22	372	13	0	1568	0	AASDH	4	57216169	In_Frame_Del	DEL	AAG	TCGA-XJ-A83F-01A-11D-A34U-08		57216169	133938107	10	20574											
STOX2	56977	broad.mit.edu	37	chr4	184930356	184930356	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgcggcacacgctgaacaCgctggtacgggagaggaaga	11	5	15	10	4	1	3	0	1	1	2	1	5	1	4	0	4	3	4	0	4	3	1			TCGA-XJ-A83F-01A-11D-A34U-08	TCGA-XJ-A83F-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaa16e66-2563-4c7c-8209-3e501185226e	d7ad26f0-ee2d-4a35-9f25-c860af727cbd	g.chr4:184930356C>T	ENST00000308497.4	+	3	1800	c.365C>T	c.(364-366)aCg>aTg	p.T122M	STOX2_ENST00000438269.1_Missense_Mutation_p.T122M	NM_020225.1	NP_064610.1	Q9P2F5	STOX2_HUMAN	storkhead box 2	122					embryo development (GO:0009790)|maternal placenta development (GO:0001893)					breast(1)|endometrium(7)|lung(6)	14		all_lung(41;1.89e-12)|Lung NSC(41;3.48e-12)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|all_hematologic(60;0.027)|Prostate(90;0.0283)		all cancers(43;2.85e-26)|Epithelial(43;2.27e-22)|OV - Ovarian serous cystadenocarcinoma(60;3.4e-10)|Colorectal(24;8.23e-06)|GBM - Glioblastoma multiforme(59;1.64e-05)|STAD - Stomach adenocarcinoma(60;3.6e-05)|COAD - Colon adenocarcinoma(29;4.37e-05)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.227)		ACGCTGAACACGCTGGTACGG	0.438																																						ENST00000308497.4																			0				breast(1)|endometrium(7)|lung(6)	14						c.(364-366)aCg>aTg		storkhead box 2							57	52	53					4																	184930356		1928	4161	6089	SO:0001583	missense	56977				embryo development|maternal placenta development			g.chr4:184930356C>T	AB037813	CCDS47167.1	4q35.1	2014-09-11			ENSG00000173320	ENSG00000173320			25450	protein-coding gene	gene with protein product							Standard	XM_005263142		Approved	DKFZp762K222	uc003ivz.1	Q9P2F5	OTTHUMG00000160618	ENST00000308497.4:c.365C>T	4.37:g.184930356C>T	ENSP00000311257:p.Thr122Met					STOX2_ENST00000438269.1_Missense_Mutation_p.T122M	p.T122M	NM_020225.1	NP_064610.1	Q9P2F5	STOX2_HUMAN		all cancers(43;2.85e-26)|Epithelial(43;2.27e-22)|OV - Ovarian serous cystadenocarcinoma(60;3.4e-10)|Colorectal(24;8.23e-06)|GBM - Glioblastoma multiforme(59;1.64e-05)|STAD - Stomach adenocarcinoma(60;3.6e-05)|COAD - Colon adenocarcinoma(29;4.37e-05)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.227)	3	1800	+		all_lung(41;1.89e-12)|Lung NSC(41;3.48e-12)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|all_hematologic(60;0.027)|Prostate(90;0.0283)	122					A6H8U4|Q9NPS8	Missense_Mutation	SNP	ENST00000308497.4	37	c.365C>T	CCDS47167.1	.	.	.	.	.	.	.	.	.	.	C	9.242	1.038588	0.19669	.	.	ENSG00000173320	ENST00000308497;ENST00000438269;ENST00000512520	T;T;T	0.77620	-1.11;-1.11;-1.11	5.55	4.63	0.57726	Storkhead-box protein, winged-helix domain (1);	0.041536	0.85682	D	0.000000	T	0.48696	0.1514	N	0.03324	-0.35	0.43782	D	0.996319	B	0.15930	0.015	B	0.09377	0.004	T	0.48885	-0.8995	10	0.16420	T	0.52	-19.7991	4.6257	0.12477	0.0:0.7364:0.0:0.2636	.	122	Q9P2F5	STOX2_HUMAN	M	122;122;60	ENSP00000311257:T122M;ENSP00000390127:T122M;ENSP00000425388:T60M	ENSP00000311257:T122M	T	+	2	0	STOX2	185167350	1.000000	0.71417	0.981000	0.43875	0.967000	0.64934	4.820000	0.62671	2.894000	0.99253	0.655000	0.94253	ACG		0.438	STOX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361433.3	NM_020225		4	28	0	0	0	1	0	4	28					T	184930356	C	T	184930356	3	4	426	1	0	0	0	0	1	0	0	0	15319	536	19	1	375	1	STOX2	4	184930356	Missense_Mutation	SNP	C	TCGA-XJ-A83F-01A-11D-A34U-08	127714187	184930356	6223920	11	20575											
SLC12A2	6558	broad.mit.edu	37	chr5	127516605	127516605	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attgataccttaccttctgaCgaccaagaaaaaatggaaag	17	9	7	8	1	1	3	0	2	1	1	1	5	1	4	3	1	2	0	3	1	7	4	rs375675214		TCGA-XJ-A83F-01A-11D-A34U-08	TCGA-XJ-A83F-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaa16e66-2563-4c7c-8209-3e501185226e	d7ad26f0-ee2d-4a35-9f25-c860af727cbd	g.chr5:127516605C>T	ENST00000262461.2	+	23	3320	c.3131C>T	c.(3130-3132)aCg>aTg	p.T1044M	SLC12A2_ENST00000343225.4_Missense_Mutation_p.T1028M|SLC12A2_ENST00000507791.1_3'UTR	NM_001046.2	NP_001037.1	P55011	S12A2_HUMAN	solute carrier family 12 (sodium/potassium/chloride transporter), member 2	1044					ammonium transmembrane transport (GO:0072488)|ammonium transport (GO:0015696)|branching involved in mammary gland duct morphogenesis (GO:0060444)|chloride transmembrane transport (GO:1902476)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|gamma-aminobutyric acid signaling pathway (GO:0007214)|hyperosmotic response (GO:0006972)|ion transport (GO:0006811)|mammary duct terminal end bud growth (GO:0060763)|multicellular organism growth (GO:0035264)|positive regulation of cell volume (GO:0045795)|potassium ion transport (GO:0006813)|sodium ion transport (GO:0006814)|transepithelial ammonium transport (GO:0070634)|transepithelial chloride transport (GO:0030321)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	ammonium transmembrane transporter activity (GO:0008519)|sodium:potassium:chloride symporter activity (GO:0008511)			breast(3)|endometrium(5)|kidney(5)|large_intestine(12)|lung(16)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48		all_cancers(142;0.0972)|Prostate(80;0.151)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	Epithelial(69;0.0433)|OV - Ovarian serous cystadenocarcinoma(64;0.0978)	Bumetanide(DB00887)|Potassium Chloride(DB00761)|Quinethazone(DB01325)	TACCTTCTGACGACCAAGAAA	0.318																																						ENST00000262461.2																			0				breast(3)|endometrium(5)|kidney(5)|large_intestine(12)|lung(16)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						c.(3130-3132)aCg>aTg		solute carrier family 12 (sodium/potassium/chloride transporter), member 2	Bumetanide(DB00887)|Potassium Chloride(DB00761)	C	MET/THR	0,4406		0,0,2203	136	147	143		3131	5.1	1	5		143	1,8597	1.2+/-3.3	0,1,4298	no	missense	SLC12A2	NM_001046.2	81	0,1,6501	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	1044/1213	127516605	1,13003	2203	4299	6502	SO:0001583	missense	6558				potassium ion transport|sodium ion transport|transepithelial ammonium transport|transepithelial chloride transport	integral to plasma membrane|membrane fraction	ammonia transmembrane transporter activity|sodium:potassium:chloride symporter activity	g.chr5:127516605C>T		CCDS4144.1, CCDS58965.1	5q23.3	2014-06-13	2013-07-18		ENSG00000064651	ENSG00000064651		"Solute carriers"	10911	protein-coding gene	gene with protein product	"bumetanide-sensitive sodium-(potassium)-chloride cotransporter 1", "basolateral Na-K-Cl symporter", "protein phosphatase 1, regulatory subunit 141"	600840				7629105	Standard	NM_001256461		Approved	NKCC1, BSC, BSC2, PPP1R141	uc003kus.3	P55011	OTTHUMG00000128983	ENST00000262461.2:c.3131C>T	5.37:g.127516605C>T	ENSP00000262461:p.Thr1044Met					SLC12A2_ENST00000507791.1_3'UTR|SLC12A2_ENST00000343225.4_Missense_Mutation_p.T1028M	p.T1044M	NM_001046.2	NP_001037.1	P55011	S12A2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	Epithelial(69;0.0433)|OV - Ovarian serous cystadenocarcinoma(64;0.0978)	23	3320	+		all_cancers(142;0.0972)|Prostate(80;0.151)	1044					Q8N713|Q8WWH7	Missense_Mutation	SNP	ENST00000262461.2	37	c.3131C>T	CCDS4144.1	.	.	.	.	.	.	.	.	.	.	C	26.3	4.720147	0.89205	0.0	1.16E-4	ENSG00000064651	ENST00000262461;ENST00000343225	D;D	0.82344	-1.6;-1.6	5.1	5.1	0.69264	.	0.053130	0.85682	D	0.000000	D	0.93220	0.7840	M	0.92833	3.35	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.71184	0.972;0.939	D	0.94362	0.7588	10	0.87932	D	0	.	19.0711	0.93136	0.0:1.0:0.0:0.0	.	1028;1044	P55011-3;P55011	.;S12A2_HUMAN	M	1044;1028	ENSP00000262461:T1044M;ENSP00000340878:T1028M	ENSP00000262461:T1044M	T	+	2	0	SLC12A2	127544504	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.551000	0.82182	2.814000	0.96858	0.563000	0.77884	ACG		0.318	SLC12A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250972.1	NM_001046		39	72	0	0	0	1	0	39	72					T	127516605	C	T	127516605	3	4	426	1	0	0	0	0	1	0	0	0	14383	536	19	1	3221	1	SLC12A2	5	127516605	Missense_Mutation	SNP	C	TCGA-XJ-A83F-01A-11D-A34U-08		127516605	53398655	12	20576											
LARP1	23367	broad.mit.edu	37	chr5	154173201	154173201	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	caaatagacatgaagcctgaAgtgcccagagagaaactggc	16	5	11	9	0	0	5	0	2	0	3	0	6	0	5	2	1	3	0	2	1	5	1			TCGA-XJ-A83F-01A-11D-A34U-08	TCGA-XJ-A83F-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaa16e66-2563-4c7c-8209-3e501185226e	d7ad26f0-ee2d-4a35-9f25-c860af727cbd	g.chr5:154173201A>C	ENST00000336314.4	+	5	579	c.555A>C	c.(553-555)gaA>gaC	p.E185D		NM_015315.3	NP_056130.2	Q6PKG0	LARP1_HUMAN	La ribonucleoprotein domain family, member 1	262					cell proliferation (GO:0008283)|positive regulation of macroautophagy (GO:0016239)|positive regulation of translation (GO:0045727)|TOR signaling (GO:0031929)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	eukaryotic initiation factor 4E binding (GO:0008190)|mRNA 3'-UTR binding (GO:0003730)|mRNA 5'-UTR binding (GO:0048027)|poly(A) RNA binding (GO:0044822)|RNA cap binding (GO:0000339)|translation activator activity (GO:0008494)|translation initiation factor binding (GO:0031369)			breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	33	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			TGAAGCCTGAAGTGCCCAGAG	0.527																																						ENST00000336314.4																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	33						c.(553-555)gaA>gaC		La ribonucleoprotein domain family, member 1							138	151	147					5																	154173201		2203	4300	6503	SO:0001583	missense	23367						protein binding|RNA binding	g.chr5:154173201A>C	AB018274	CCDS4328.1	5q33.2	2014-02-12			ENSG00000155506	ENSG00000155506		"La ribonucleoprotein domain containing"	29531	protein-coding gene	gene with protein product		612059				9872452, 10878606	Standard	NM_015315		Approved	LARP, KIAA0731, MGC19556	uc003lvo.4	Q6PKG0	OTTHUMG00000130191	ENST00000336314.4:c.555A>C	5.37:g.154173201A>C	ENSP00000336721:p.Glu185Asp						p.E185D	NM_015315.3	NP_056130.2	Q6PKG0	LARP1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)		5	579	+	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	262					O94836|Q8N4M2|Q8NB73|Q9UFD7	Missense_Mutation	SNP	ENST00000336314.4	37	c.555A>C	CCDS4328.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	12.79|12.79	2.042907|2.042907	0.36085|0.36085	.|.	.|.	ENSG00000155506|ENSG00000155506	ENST00000336314;ENST00000518297;ENST00000519931;ENST00000524248;ENST00000523163|ENST00000517616;ENST00000518194	T;T;T;T|.	0.48201|.	1.88;1.45;1.46;0.82|.	6.17|6.17	-1.25|-1.25	0.09405|0.09405	.|.	0.100297|.	0.64402|.	D|.	0.000003|.	T|T	0.24431|0.24431	0.0592|0.0592	N|N	0.14661|0.14661	0.345|0.345	0.44492|0.44492	D|D	0.997438|0.997438	B;B|.	0.12013|.	0.005;0.003|.	B;B|.	0.11329|.	0.004;0.006|.	T|T	0.09952|0.09952	-1.0651|-1.0651	10|5	0.20046|.	T|.	0.44|.	-11.5255|-11.5255	1.7779|1.7779	0.03025|0.03025	0.45:0.0958:0.2738:0.1804|0.45:0.0958:0.2738:0.1804	.|.	262;185|.	Q6PKG0;Q6PKG0-3|.	LARP1_HUMAN;.|.	D|R	185;262;57;57;37|165;24	ENSP00000336721:E185D;ENSP00000428589:E262D;ENSP00000429904:E57D;ENSP00000430438:E37D|.	ENSP00000336721:E185D|.	E|S	+|+	3|1	2|0	LARP1|LARP1	154153394|154153394	1.000000|1.000000	0.71417|0.71417	0.882000|0.882000	0.34594|0.34594	0.970000|0.970000	0.65996|0.65996	0.908000|0.908000	0.28545|0.28545	-0.023000|-0.023000	0.13963|0.13963	0.533000|0.533000	0.62120|0.62120	GAA|AGT		0.527	LARP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252509.1	NM_033551		65	94	0	0	0	1	0	65	94					C	154173201	A	C	154173201	3	2	426	1	0	0	0	0	1	0	0	0	8628	69	3	5	573	5	LARP1	5	154173201	Missense_Mutation	SNP	A	TCGA-XJ-A83F-01A-11D-A34U-08	26656596	154173201	26742059	13	20577											
FLT4	2324	broad.mit.edu	37	chr5	180030327	180030327	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gccccccgctcaggccgccgCcgcctcccttgggagtcagg	3	5	13	20	4	2	0	2	0	0	0	3	1	3	1	8	3	0	1	8	3	0	1			TCGA-XJ-A83F-01A-11D-A34U-08	TCGA-XJ-A83F-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaa16e66-2563-4c7c-8209-3e501185226e	d7ad26f0-ee2d-4a35-9f25-c860af727cbd	g.chr5:180030327C>T	ENST00000261937.6	-	30	4035	c.3957G>A	c.(3955-3957)cgG>cgA	p.R1319R		NM_182925.4	NP_891555.2	P35916	VGFR3_HUMAN	fms-related tyrosine kinase 4	1319					blood vessel morphogenesis (GO:0048514)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|lymph vessel development (GO:0001945)|lymphangiogenesis (GO:0001946)|negative regulation of apoptotic process (GO:0043066)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of JNK cascade (GO:0046330)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of protein kinase C signaling (GO:0090037)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation vascular endothelial growth factor production (GO:0010575)|protein autophosphorylation (GO:0046777)|regulation of blood vessel remodeling (GO:0060312)|sprouting angiogenesis (GO:0002040)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor signaling pathway (GO:0038084)|vasculature development (GO:0001944)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|protein phosphatase binding (GO:0019903)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Axitinib(DB06626)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	CAGGCCGCCGCCGCCTCCCTT	0.627																																					Colon(97;1075 1466 27033 27547 35871)	ENST00000261937.6																			0				NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						c.(3955-3957)cgG>cgA		fms-related tyrosine kinase 4	Sorafenib(DB00398)|Sunitinib(DB01268)						22	23	23					5																	180030327		2202	4300	6502	SO:0001819	synonymous_variant	2324				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity	g.chr5:180030327C>T	X68203	CCDS4457.1, CCDS43412.1	5q34-q35	2013-01-29			ENSG00000037280	ENSG00000037280	2.7.10.1	"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	3767	protein-coding gene	gene with protein product		136352				1319394	Standard	NM_002020		Approved	VEGFR3, PCL	uc003mlz.4	P35916	OTTHUMG00000130931	ENST00000261937.6:c.3957G>A	5.37:g.180030327C>T							p.R1319R	NM_182925.4	NP_891555.2	P35916	VGFR3_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	30	4035	-	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	0					A8K6L4|B5A926|Q16067|Q86W07|Q86W08	Silent	SNP	ENST00000261937.6	37	c.3957G>A	CCDS4457.1																																																																																				0.627	FLT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253527.4			10	7	0	0	0	1	0	10	7					T	180030327	C	T	180030327	2	4	426	1	0	0	0	0	0	0	0	1	5944	726	26	3		3	FLT4	5	180030327	Silent	SNP	C	TCGA-XJ-A83F-01A-11D-A34U-08	25857126	180030327	884933	14	20578											
HIST1H2BL	8340	broad.mit.edu	37	chr6	27775389	27775389	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccccggaagcagcaggcgcAcggcggtctggatctccctg	6	5	14	16	4	2	0	0	0	2	0	3	2	2	2	3	5	2	3	3	5	1	0			TCGA-XJ-A83F-01A-11D-A34U-08	TCGA-XJ-A83F-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaa16e66-2563-4c7c-8209-3e501185226e	d7ad26f0-ee2d-4a35-9f25-c860af727cbd	g.chr6:27775389A>T	ENST00000377401.2	-	1	320	c.296T>A	c.(295-297)gTg>gAg	p.V99E	HIST1H3H_ENST00000369163.2_5'Flank|HIST1H2AI_ENST00000358739.3_5'Flank	NM_003519.3	NP_003510.1	Q99880	H2B1L_HUMAN	histone cluster 1, H2bl	99					chromatin organization (GO:0006325)|nucleosome assembly (GO:0006334)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			cervix(1)|endometrium(1)|large_intestine(2)|lung(7)|urinary_tract(1)	12						CAGCAGGCGCACGGCGGTCTG	0.617																																						ENST00000377401.2																			0				cervix(1)|endometrium(1)|large_intestine(2)|lung(7)|urinary_tract(1)	12						c.(295-297)gTg>gAg		histone cluster 1, H2bl							81	85	84					6																	27775389		2203	4300	6503	SO:0001583	missense	8340				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr6:27775389A>T	Z83740	CCDS4625.1	6p22.1	2011-01-27	2006-10-11	2003-02-28	ENSG00000185130	ENSG00000185130		"Histones / Replication-dependent"	4748	protein-coding gene	gene with protein product		602800	"H2B histone family, member C", "histone 1, H2bl"	H2BFC		9439656, 12408966	Standard	NM_003519		Approved	H2B/c, dJ97D16.4	uc003njl.3	Q99880	OTTHUMG00000014485	ENST00000377401.2:c.296T>A	6.37:g.27775389A>T	ENSP00000366618:p.Val99Glu						p.V99E	NM_003519.3	NP_003510.1	Q99880	H2B1L_HUMAN			1	320	-			99					B2R5A3|Q52LW9	Missense_Mutation	SNP	ENST00000377401.2	37	c.296T>A	CCDS4625.1	.	.	.	.	.	.	.	.	.	.	.	16.93	3.257496	0.59321	.	.	ENSG00000185130	ENST00000377401	T	0.44881	0.91	4.35	4.35	0.52113	Histone-fold (2);Histone core (1);	0.458656	0.13093	U	0.414419	T	0.51278	0.1665	H	0.98199	4.17	0.43230	D	0.995122	B	0.06786	0.001	B	0.21360	0.034	T	0.65471	-0.6160	10	0.72032	D	0.01	.	13.4391	0.61101	1.0:0.0:0.0:0.0	.	99	Q99880	H2B1L_HUMAN	E	99	ENSP00000366618:V99E	ENSP00000366618:V99E	V	-	2	0	HIST1H2BL	27883368	1.000000	0.71417	1.000000	0.80357	0.829000	0.46940	8.745000	0.91600	1.894000	0.54839	0.533000	0.62120	GTG		0.617	HIST1H2BL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040153.1	NM_003519		41	74	0	0	0	1	0	41	74					T	27775389	A	T	27775389	3	4	426	1	0	0	0	0	1	0	0	0	7151	159	6	5	88	5	HIST1H2BL	6	27775389	Missense_Mutation	SNP	A	TCGA-XJ-A83F-01A-11D-A34U-08		27775389	143339678	15	20579											
KCNK17	89822	broad.mit.edu	37	chr6	39278711	39278711	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaaaagaagaaggagcccaCgagctcccagcgccccatgc	14	2	11	14	2	0	3	0	0	0	3	1	5	1	4	4	1	4	1	4	1	4	0			TCGA-XJ-A83F-01A-11D-A34U-08	TCGA-XJ-A83F-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaa16e66-2563-4c7c-8209-3e501185226e	d7ad26f0-ee2d-4a35-9f25-c860af727cbd	g.chr6:39278711C>T	ENST00000373231.4	-	2	542	c.310G>A	c.(310-312)Gtg>Atg	p.V104M	KCNK17_ENST00000453413.2_Missense_Mutation_p.V104M	NM_031460.3	NP_113648.2	Q96T54	KCNKH_HUMAN	potassium channel, subfamily K, member 17	104					potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	potassium channel activity (GO:0005267)|voltage-gated ion channel activity (GO:0005244)			endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(2)	14						AAGGAGCCCACGAGCTCCCAG	0.607																																						ENST00000453413.2																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(2)	14						c.(310-312)Gtg>Atg		potassium channel, subfamily K, member 17							103	102	102					6																	39278711		2203	4300	6503	SO:0001583	missense	89822					integral to membrane	potassium channel activity|voltage-gated ion channel activity	g.chr6:39278711C>T	AF358910	CCDS4842.1, CCDS47419.1	6p21	2012-03-07			ENSG00000124780	ENSG00000124780		"Potassium channels", "Voltage-gated ion channels / Potassium channels, Two-P"	14465	protein-coding gene	gene with protein product		607370				16382106	Standard	NM_031460		Approved	K2p17.1, TALK-2, TALK2, TASK4, TASK-4	uc003ooo.3	Q96T54	OTTHUMG00000014646	ENST00000373231.4:c.310G>A	6.37:g.39278711C>T	ENSP00000362328:p.Val104Met					KCNK17_ENST00000373231.4_Missense_Mutation_p.V104M	p.V104M	NM_001135111.1	NP_001128583.1	Q96T54	KCNKH_HUMAN			2	450	-			104					E9PB46|Q5TCF4|Q8TAW4|Q9BXD1|Q9H592	Missense_Mutation	SNP	ENST00000373231.4	37	c.310G>A	CCDS4842.1	.	.	.	.	.	.	.	.	.	.	C	8.321	0.824301	0.16678	.	.	ENSG00000124780	ENST00000373231;ENST00000453413	T;T	0.30981	1.51;1.51	5.42	-0.612	0.11597	Ion transport 2 (1);	0.855857	0.09832	N	0.750094	T	0.05686	0.0149	L	0.41415	1.275	0.09310	N	1	P;B	0.42039	0.769;0.283	B;B	0.29663	0.105;0.064	T	0.23726	-1.0180	10	0.36615	T	0.2	.	3.8875	0.09105	0.1051:0.5297:0.1038:0.2614	.	104;104	E9PB46;Q96T54	.;KCNKH_HUMAN	M	104	ENSP00000362328:V104M;ENSP00000401271:V104M	ENSP00000362328:V104M	V	-	1	0	KCNK17	39386689	0.000000	0.05858	0.003000	0.11579	0.637000	0.38172	-1.016000	0.03633	-0.839000	0.04212	-1.628000	0.00784	GTG		0.607	KCNK17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040453.2	NM_031460		23	41	0	0	0	1	0	23	41					T	39278711	C	T	39278711	3	4	426	1	0	0	0	0	1	0	0	0	8064	536	19	1	836	1	KCNK17	6	39278711	Missense_Mutation	SNP	C	TCGA-XJ-A83F-01A-11D-A34U-08	11503322	39278711	131836356	16	20580											
TAAR6	319100	broad.mit.edu	37	chr6	132891554	132891554	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tccccttctcgccgggatccCgggtgattctgtacatagtg	5	12	11	13	3	2	1	0	1	2	0	5	2	4	2	4	2	1	1	4	2	2	4			TCGA-XJ-A83F-01A-11D-A34U-08	TCGA-XJ-A83F-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaa16e66-2563-4c7c-8209-3e501185226e	d7ad26f0-ee2d-4a35-9f25-c860af727cbd	g.chr6:132891554C>T	ENST00000275198.1	+	1	94	c.94C>T	c.(94-96)Cgg>Tgg	p.R32W		NM_175067.1	NP_778237.1	Q96RI8	TAAR6_HUMAN	trace amine associated receptor 6	32					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|trace-amine receptor activity (GO:0001594)			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(19)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	41	Breast(56;0.112)			OV - Ovarian serous cystadenocarcinoma(155;0.006)|GBM - Glioblastoma multiforme(226;0.00792)		GCCGGGATCCCGGGTGATTCT	0.532																																						ENST00000275198.1																			0				cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(19)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	41						c.(94-96)Cgg>Tgg		trace amine associated receptor 6							160	148	152					6																	132891554		2203	4300	6503	SO:0001583	missense	319100					plasma membrane	G-protein coupled receptor activity	g.chr6:132891554C>T	AF380192	CCDS5155.1	6q23.1	2012-08-08	2005-02-23	2005-02-24	ENSG00000146383	ENSG00000146383		"GPCR / Class A : Trace amine associated receptors"	20978	protein-coding gene	gene with protein product		608923	"trace amine receptor 4"	TRAR4		11459929, 15718104	Standard	NM_175067		Approved	TA4	uc011eck.2	Q96RI8	OTTHUMG00000015579	ENST00000275198.1:c.94C>T	6.37:g.132891554C>T	ENSP00000275198:p.Arg32Trp						p.R32W	NM_175067.1	NP_778237.1	Q96RI8	TAAR6_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.006)|GBM - Glioblastoma multiforme(226;0.00792)	1	94	+	Breast(56;0.112)		32					Q5VUQ4	Missense_Mutation	SNP	ENST00000275198.1	37	c.94C>T	CCDS5155.1	.	.	.	.	.	.	.	.	.	.	C	12.46	1.943148	0.34283	.	.	ENSG00000146383	ENST00000275198;ENST00000539228	T	0.39229	1.09	4.99	-0.182	0.13287	.	0.420434	0.17738	N	0.163641	T	0.19046	0.0457	M	0.69823	2.125	0.09310	N	1	B	0.20164	0.042	B	0.21151	0.033	T	0.30504	-0.9976	10	0.59425	D	0.04	-9.4161	6.3705	0.21479	0.3674:0.4987:0.0:0.1339	.	32	Q96RI8	TAAR6_HUMAN	W	32;15	ENSP00000275198:R32W	ENSP00000275198:R32W	R	+	1	2	TAAR6	132933247	0.000000	0.05858	0.000000	0.03702	0.013000	0.08279	0.383000	0.20651	-0.254000	0.09500	0.563000	0.77884	CGG		0.532	TAAR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042255.1	NM_175067		22	105	0	0	0	1	0	22	105					T	132891554	C	T	132891554	3	4	426	1	0	0	0	0	1	0	0	0	15489	643	23	2	96	2	TAAR6	6	132891554	Missense_Mutation	SNP	C	TCGA-XJ-A83F-01A-11D-A34U-08	93612843	132891554	38223513	17	20581											
SYNE1	23345	broad.mit.edu	37	chr6	152751620	152751620	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtggatcaattcttaccttTctaaggttctcttcaaactt	9	17	6	9	0	5	0	2	0	3	0	6	1	5	1	1	3	2	1	1	3	4	7			TCGA-XJ-A83F-01A-11D-A34U-08	TCGA-XJ-A83F-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaa16e66-2563-4c7c-8209-3e501185226e	d7ad26f0-ee2d-4a35-9f25-c860af727cbd	g.chr6:152751620T>C	ENST00000367255.5	-	35	5287	c.4686A>G	c.(4684-4686)agA>agG	p.R1562R	SYNE1_ENST00000341594.5_Silent_p.R1632R|SYNE1_ENST00000265368.4_Silent_p.R1562R|SYNE1_ENST00000423061.1_Silent_p.R1569R|SYNE1_ENST00000367253.4_Silent_p.R1562R|SYNE1_ENST00000448038.1_Silent_p.R1569R	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	1562					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TTCTTACCTTTCTAAGGTTCT	0.368										HNSCC(10;0.0054)																												ENST00000367255.5																			0				NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524						c.(4684-4686)agA>agG		spectrin repeat containing, nuclear envelope 1							110	104	107					6																	152751620		2203	4300	6503	SO:0001819	synonymous_variant	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152751620T>C	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"myocyte nuclear envelope protein 1", "nuclear envelope spectrin repeat-1"	608441	"chromosome 6 open reading frame 98"	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.4686A>G	6.37:g.152751620T>C		HNSCC(10;0.0054)				SYNE1_ENST00000265368.4_Silent_p.R1562R|SYNE1_ENST00000448038.1_Silent_p.R1569R|SYNE1_ENST00000423061.1_Silent_p.R1569R|SYNE1_ENST00000341594.5_Silent_p.R1632R|SYNE1_ENST00000367253.4_Silent_p.R1562R	p.R1562R	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	35	5287	-		Ovarian(120;0.0955)	1562					E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Silent	SNP	ENST00000367255.5	37	c.4686A>G	CCDS5236.2																																																																																				0.368	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		39	52	0	0	0	1	0	39	52					C	152751620	T	C	152751620	2	2	426	1	0	0	0	0	0	0	0	1	15442	1780	62	4		4	SYNE1	6	152751620	Silent	SNP	T	TCGA-XJ-A83F-01A-11D-A34U-08	19860066	152751620	18363447	18	20582											
SDK1	221935	broad.mit.edu	37	chr7	4007037	4007037	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaggtgtgaggtgtccggggCtcccaaacccgccatcacct	8	7	12	14	2	1	1	1	1	0	0	3	1	3	1	5	4	1	1	5	4	2	0			TCGA-XJ-A83F-01A-11D-A34U-08	TCGA-XJ-A83F-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaa16e66-2563-4c7c-8209-3e501185226e	d7ad26f0-ee2d-4a35-9f25-c860af727cbd	g.chr7:4007037C>T	ENST00000404826.2	+	10	1656	c.1517C>T	c.(1516-1518)gCt>gTt	p.A506V	SDK1_ENST00000389531.3_Missense_Mutation_p.A506V	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	506	Ig-like C2-type 5.				cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		GTGTCCGGGGCTCCCAAACCC	0.562																																						ENST00000404826.2																			0				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153						c.(1516-1518)gCt>gTt		sidekick cell adhesion molecule 1							78	77	77					7																	4007037		2203	4300	6503	SO:0001583	missense	221935				cell adhesion	integral to membrane		g.chr7:4007037C>T	AK074077	CCDS34590.1	7p22.3	2013-02-11	2011-12-09		ENSG00000146555	ENSG00000146555		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	19307	protein-coding gene	gene with protein product		607216	"sidekick homolog 1 (chicken)", "sidekick homolog 1, cell adhesion molecule (chicken)"			12230981, 17307840, 15213259	Standard	NM_001079653		Approved	FLJ31425	uc003smx.3	Q7Z5N4	OTTHUMG00000151733	ENST00000404826.2:c.1517C>T	7.37:g.4007037C>T	ENSP00000385899:p.Ala506Val					SDK1_ENST00000389531.3_Missense_Mutation_p.A506V	p.A506V	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)	10	1656	+		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)	506			Ig-like C2-type 5.		Q8TEN9|Q8TEP5|Q96N44	Missense_Mutation	SNP	ENST00000404826.2	37	c.1517C>T	CCDS34590.1	.	.	.	.	.	.	.	.	.	.	C	35	5.422188	0.96111	.	.	ENSG00000146555	ENST00000404826;ENST00000389531	T;T	0.66638	-0.22;-0.22	5.65	5.65	0.86999	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000002	T	0.62588	0.2440	N	0.02111	-0.68	0.58432	D	0.999998	D	0.76494	0.999	D	0.68621	0.959	T	0.74811	-0.3538	10	0.46703	T	0.11	.	19.7244	0.96157	0.0:1.0:0.0:0.0	.	506	Q7Z5N4	SDK1_HUMAN	V	506	ENSP00000385899:A506V;ENSP00000374182:A506V	ENSP00000374182:A506V	A	+	2	0	SDK1	3973563	1.000000	0.71417	0.970000	0.41538	0.999000	0.98932	7.452000	0.80683	2.659000	0.90383	0.655000	0.94253	GCT		0.562	SDK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323702.1	NM_152744		10	58	0	0	0	1	0	10	58					T	4007037	C	T	4007037	3	4	426	1	0	0	0	0	1	0	0	0	13968	797	28	3	1555	3	SDK1	7	4007037	Missense_Mutation	SNP	C	TCGA-XJ-A83F-01A-11D-A34U-08		4007037	155131626	19	20583											
AHR	196	broad.mit.edu	37	chr7	17379808	17379808	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acacccacgtgggtcagatgCagtacaatccagtactgcca	12	7	9	13	1	1	1	1	0	0	1	2	1	2	1	3	1	4	3	3	1	3	2			TCGA-XJ-A83F-01A-11D-A34U-08	TCGA-XJ-A83F-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaa16e66-2563-4c7c-8209-3e501185226e	d7ad26f0-ee2d-4a35-9f25-c860af727cbd	g.chr7:17379808C>G	ENST00000242057.4	+	10	3002	c.2359C>G	c.(2359-2361)Cag>Gag	p.Q787E		NM_001621.4	NP_001612.1	P35869	AHR_HUMAN	aryl hydrocarbon receptor	787					apoptotic process (GO:0006915)|blood vessel development (GO:0001568)|cell cycle (GO:0007049)|circadian regulation of gene expression (GO:0032922)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of RNA polymerase II transcriptional preinitiation complex assembly (GO:0045899)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland development (GO:0030850)|regulation of B cell proliferation (GO:0030888)|regulation of gene expression (GO:0010468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|response to toxic substance (GO:0009636)|response to xenobiotic stimulus (GO:0009410)|transcription from RNA polymerase II promoter (GO:0006366)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosolic aryl hydrocarbon receptor complex (GO:0034752)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|E-box binding (GO:0070888)|enhancer binding (GO:0035326)|Hsp90 protein binding (GO:0051879)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein dimerization activity (GO:0046983)|protein heterodimerization activity (GO:0046982)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(11)|ovary(1)|pancreas(1)|urinary_tract(3)	33	Lung NSC(10;0.0392)|all_lung(11;0.0754)				Atorvastatin(DB01076)|Flutamide(DB00499)|Ginseng(DB01404)|Leflunomide(DB01097)|Mexiletine(DB00379)|Nimodipine(DB00393)	GGGTCAGATGCAGTACAATCC	0.448																																						ENST00000242057.4																			0				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(11)|ovary(1)|pancreas(1)|urinary_tract(3)	33						c.(2359-2361)Cag>Gag		aryl hydrocarbon receptor							62	64	63					7																	17379808		2187	4299	6486	SO:0001583	missense	196				apoptosis|blood vessel development|cell cycle|regulation of B cell proliferation|response to stress|transcription from RNA polymerase II promoter|xenobiotic metabolic process	cytosolic aryl hydrocarbon receptor complex|transcription factor complex	Hsp90 protein binding|ligand-dependent nuclear receptor activity|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding	g.chr7:17379808C>G	L19872	CCDS5366.1	7p15	2013-05-21			ENSG00000106546	ENSG00000106546		"Basic helix-loop-helix proteins"	348	protein-coding gene	gene with protein product		600253				8125016	Standard	NM_001621		Approved	bHLHe76	uc011jxz.1	P35869	OTTHUMG00000149967	ENST00000242057.4:c.2359C>G	7.37:g.17379808C>G	ENSP00000242057:p.Gln787Glu						p.Q787E	NM_001621.4	NP_001612.1	P35869	AHR_HUMAN			10	3002	+	Lung NSC(10;0.0392)|all_lung(11;0.0754)		787					A4D130|Q13728|Q13803|Q13804	Missense_Mutation	SNP	ENST00000242057.4	37	c.2359C>G	CCDS5366.1	.	.	.	.	.	.	.	.	.	.	C	14.80	2.643082	0.47153	.	.	ENSG00000106546	ENST00000242057	T	0.54071	0.59	5.25	5.25	0.73442	.	0.560712	0.19160	N	0.121215	T	0.55226	0.1907	M	0.73962	2.25	0.37648	D	0.922319	P	0.38992	0.653	B	0.38020	0.263	T	0.58618	-0.7605	10	0.15499	T	0.54	.	19.0552	0.93062	0.0:1.0:0.0:0.0	.	787	P35869	AHR_HUMAN	E	787	ENSP00000242057:Q787E	ENSP00000242057:Q787E	Q	+	1	0	AHR	17346333	0.999000	0.42202	0.985000	0.45067	0.595000	0.36748	2.230000	0.42999	2.729000	0.93468	0.650000	0.86243	CAG		0.448	AHR-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314620.2	NM_001621		33	48	0	0	0	1	0	33	48					G	17379808	C	G	17379808	3	3	426	1	0	0	0	0	1	0	0	0	416	711	25	5	2397	5	AHR	7	17379808	Missense_Mutation	SNP	C	TCGA-XJ-A83F-01A-11D-A34U-08	13372771	17379808	141758855	20	20584											
CDC42BPG	55561	broad.mit.edu	37	chr11	64601218	64601218	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acctgtcctcacccccatgcGcaggctgcgtcggccctccg	4	7	10	20	4	1	0	1	0	0	0	4	0	3	0	6	2	2	2	6	2	0	0	rs200874110		TCGA-XJ-A83F-01A-11D-A34U-08	TCGA-XJ-A83F-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaa16e66-2563-4c7c-8209-3e501185226e	d7ad26f0-ee2d-4a35-9f25-c860af727cbd	g.chr11:64601218G>A	ENST00000342711.5	-	22	2556	c.2557C>T	c.(2557-2559)Cgc>Tgc	p.R853C	CDC42BPG_ENST00000491280.1_5'Flank	NM_017525.2	NP_059995.2			CDC42 binding protein kinase gamma (DMPK-like)											central_nervous_system(1)|lung(3)	4						ACCCCCATGCGCAGGCTGCGT	0.687																																						ENST00000342711.5																			0				central_nervous_system(1)|lung(3)	4						c.(2557-2559)Cgc>Tgc		CDC42 binding protein kinase gamma (DMPK-like)							36	40	39					11																	64601218		2201	4297	6498	SO:0001583	missense	55561				actin cytoskeleton reorganization|intracellular signal transduction	cell leading edge|centrosome	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chr11:64601218G>A	AY648038	CCDS31601.1	11q13	2013-01-10			ENSG00000171219	ENSG00000171219		"Pleckstrin homology (PH) domain containing"	29829	protein-coding gene	gene with protein product		613991				9341881, 15194684	Standard	NM_017525		Approved	HSMDPKIN, MRCKgamma, DMPK2, kappa-200	uc001obs.4	Q6DT37	OTTHUMG00000045365	ENST00000342711.5:c.2557C>T	11.37:g.64601218G>A	ENSP00000345133:p.Arg853Cys						p.R853C	NM_017525.2	NP_059995.2	Q6DT37	MRCKG_HUMAN			22	2556	-			853						Missense_Mutation	SNP	ENST00000342711.5	37	c.2557C>T	CCDS31601.1	.	.	.	.	.	.	.	.	.	.	G	18.02	3.530481	0.64860	.	.	ENSG00000171219	ENST00000342711	T	0.68765	-0.35	5.18	5.18	0.71444	.	0.320083	0.22057	N	0.065235	T	0.57388	0.2050	N	0.08118	0	0.52501	D	0.999951	D	0.76494	0.999	P	0.51806	0.68	T	0.65417	-0.6173	10	0.62326	D	0.03	.	14.5737	0.68229	0.0:0.0:1.0:0.0	.	853	Q6DT37	MRCKG_HUMAN	C	853	ENSP00000345133:R853C	ENSP00000345133:R853C	R	-	1	0	CDC42BPG	64357794	0.969000	0.33509	0.998000	0.56505	0.184000	0.23303	5.003000	0.63959	2.595000	0.87683	0.561000	0.74099	CGC		0.687	CDC42BPG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000105352.4	XM_290516		16	39	0	0	0	1	0	16	39					A	64601218	G	A	64601218	3	1	426	1	0	0	0	0	1	0	0	0	3074	1087	38	1	2162	1	CDC42BPG	11	64601218	Missense_Mutation	SNP	G	TCGA-XJ-A83F-01A-11D-A34U-08		64601218	70405298	21	20585											
FAT3	120114	broad.mit.edu	37	chr11	92534829	92534829	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccttgaaggacctagatcacGagacagaccccacattcacc	13	6	7	15	1	2	4	2	1	0	3	2	6	2	5	5	1	0	0	5	1	2	3			TCGA-XJ-A83F-01A-11D-A34U-08	TCGA-XJ-A83F-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaa16e66-2563-4c7c-8209-3e501185226e	d7ad26f0-ee2d-4a35-9f25-c860af727cbd	g.chr11:92534829G>A	ENST00000298047.6	+	9	8667	c.8650G>A	c.(8650-8652)Gag>Aag	p.E2884K	FAT3_ENST00000525166.1_Missense_Mutation_p.E2734K|FAT3_ENST00000409404.2_Missense_Mutation_p.E2884K			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	2884	Cadherin 26. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.E2884K(1)		NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				CCTAGATCACGAGACAGACCC	0.512										TCGA Ovarian(4;0.039)																												ENST00000298047.6																			1	Substitution - Missense(1)	p.E2884K(1)	skin(1)	NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85						c.(8650-8652)Gag>Aag		FAT atypical cadherin 3							89	93	92					11																	92534829		2109	4228	6337	SO:0001583	missense	120114				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr11:92534829G>A	AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"Cadherins / Cadherin-related"	23112	protein-coding gene	gene with protein product	"cadherin-related family member 10"	612483	"FAT tumor suppressor homolog 3 (Drosophila)"			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.8650G>A	11.37:g.92534829G>A	ENSP00000298047:p.Glu2884Lys	TCGA Ovarian(4;0.039)				FAT3_ENST00000525166.1_Missense_Mutation_p.E2734K|FAT3_ENST00000409404.2_Missense_Mutation_p.E2884K	p.E2884K			Q8TDW7	FAT3_HUMAN			9	8667	+		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)	2884			Cadherin 26.		B5MDB0|Q96AU6	Missense_Mutation	SNP	ENST00000298047.6	37	c.8650G>A		.	.	.	.	.	.	.	.	.	.	G	28.6	4.931088	0.92389	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000525166	T;T;T	0.72394	-0.65;-0.65;-0.65	6.04	6.04	0.98038	.	.	.	.	.	D	0.89591	0.6759	H	0.95151	3.63	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.89840	0.4002	9	0.42905	T	0.14	.	20.5948	0.99439	0.0:0.0:1.0:0.0	.	2884	Q8TDW7-3	.	K	2884;2884;2734	ENSP00000298047:E2884K;ENSP00000387040:E2884K;ENSP00000432586:E2734K	ENSP00000298047:E2884K	E	+	1	0	FAT3	92174477	1.000000	0.71417	0.973000	0.42090	0.907000	0.53573	9.787000	0.99055	2.873000	0.98535	0.563000	0.77884	GAG		0.512	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781		6	40	0	0	0	1	0	6	40					A	92534829	G	A	92534829	3	1	426	1	0	0	0	0	1	0	0	0	5691	1059	37	2	8684	2	FAT3	11	92534829	Missense_Mutation	SNP	G	TCGA-XJ-A83F-01A-11D-A34U-08	27933611	92534829	42471687	22	20586											
OR8D4	338662	broad.mit.edu	37	chr11	123777934	123777934	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atctcaaacctgcttctagcAgttcactcacccaggagaaa	13	9	6	13	0	4	1	3	0	2	1	5	2	4	1	2	1	3	3	2	1	3	3			TCGA-XJ-A83F-01A-11D-A34U-08	TCGA-XJ-A83F-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaa16e66-2563-4c7c-8209-3e501185226e	d7ad26f0-ee2d-4a35-9f25-c860af727cbd	g.chr11:123777934A>T	ENST00000321355.2	+	1	826	c.796A>T	c.(796-798)Agt>Tgt	p.S266C		NM_001005197.1	NP_001005197.1	Q8NGM9	OR8D4_HUMAN	olfactory receptor, family 8, subfamily D, member 4	266						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			large_intestine(1)|lung(16)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	25		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.93e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0409)		TGCTTCTAGCAGTTCACTCAC	0.428																																						ENST00000321355.2																			0				large_intestine(1)|lung(16)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	25						c.(796-798)Agt>Tgt		olfactory receptor, family 8, subfamily D, member 4							105	106	106					11																	123777934		2202	4299	6501	SO:0001583	missense	338662				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:123777934A>T	AB065761	CCDS31698.1	11q24.1	2012-08-09			ENSG00000181518	ENSG00000181518		"GPCR / Class A : Olfactory receptors"	14840	protein-coding gene	gene with protein product							Standard	NM_001005197		Approved		uc010saa.2	Q8NGM9	OTTHUMG00000165960	ENST00000321355.2:c.796A>T	11.37:g.123777934A>T	ENSP00000325381:p.Ser266Cys						p.S266C	NM_001005197.1	NP_001005197.1	Q8NGM9	OR8D4_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.93e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0409)	1	826	+		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	266					Q6IFE9	Missense_Mutation	SNP	ENST00000321355.2	37	c.796A>T	CCDS31698.1	.	.	.	.	.	.	.	.	.	.	A	10.50	1.368642	0.24771	.	.	ENSG00000181518	ENST00000321355	T	0.00249	8.44	5.29	1.73	0.24493	GPCR, rhodopsin-like superfamily (1);	0.610713	0.15188	N	0.275735	T	0.00608	0.0020	M	0.93328	3.405	0.09310	N	1	D	0.59767	0.986	D	0.64687	0.928	T	0.35624	-0.9781	10	0.48119	T	0.1	.	8.1926	0.31376	0.7552:0.0:0.2448:0.0	.	266	Q8NGM9	OR8D4_HUMAN	C	266	ENSP00000325381:S266C	ENSP00000325381:S266C	S	+	1	0	OR8D4	123283144	0.000000	0.05858	0.000000	0.03702	0.170000	0.22686	-0.053000	0.11846	0.132000	0.18615	0.533000	0.62120	AGT		0.428	OR8D4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387262.1	NM_001005197		13	95	0	0	0	1	0	13	95					T	123777934	A	T	123777934	3	4	426	1	0	0	0	0	1	0	0	0	11233	188	7	5	798	5	OR8D4	11	123777934	Missense_Mutation	SNP	A	TCGA-XJ-A83F-01A-11D-A34U-08	31243105	123777934	11228582	23	20587											
PPFIBP1	8496	broad.mit.edu	37	chr12	27842018	27842018	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccacccaataagactttgcTgcgaagacatttggccactc	11	9	7	14	1	0	2	0	0	0	2	1	3	0	2	3	1	2	1	3	1	3	3			TCGA-XJ-A83F-01A-11D-A34U-08	TCGA-XJ-A83F-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaa16e66-2563-4c7c-8209-3e501185226e	d7ad26f0-ee2d-4a35-9f25-c860af727cbd	g.chr12:27842018T>A	ENST00000318304.8	+	26	2868	c.2585T>A	c.(2584-2586)cTg>cAg	p.L862Q	PPFIBP1_ENST00000537927.1_Missense_Mutation_p.L709Q|PPFIBP1_ENST00000228425.6_Missense_Mutation_p.L856Q|PPFIBP1_ENST00000542629.1_Missense_Mutation_p.L831Q	NM_001198916.1|NM_177444.2	NP_001185845.1|NP_803193	Q86W92	LIPB1_HUMAN	PTPRF interacting protein, binding protein 1 (liprin beta 1)	862	SAM 3. {ECO:0000255|PROSITE- ProRule:PRU00184}.				cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)			PPFIBP1/ALK(3)	central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(13)|prostate(2)|skin(1)	32	Lung SC(9;0.0873)					AAGACTTTGCTGCGAAGACAT	0.433																																						ENST00000318304.8																		PPFIBP1/ALK(3)	0				central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(13)|prostate(2)|skin(1)	32						c.(2584-2586)cTg>cAg		PTPRF interacting protein, binding protein 1 (liprin beta 1)							124	111	115					12																	27842018		2203	4300	6503	SO:0001583	missense	8496				cell adhesion	plasma membrane	protein binding	g.chr12:27842018T>A	AF034802	CCDS8713.1, CCDS55812.1, CCDS55813.1, CCDS55814.1	12p12.1	2013-01-10						"Sterile alpha motif (SAM) domain containing"	9249	protein-coding gene	gene with protein product		603141				9624153, 11836260	Standard	NM_003622		Approved	L2, hSGT2, hSgt2p, SGT2	uc001ric.2	Q86W92		ENST00000318304.8:c.2585T>A	12.37:g.27842018T>A	ENSP00000314724:p.Leu862Gln					PPFIBP1_ENST00000537927.1_Missense_Mutation_p.L709Q|PPFIBP1_ENST00000228425.6_Missense_Mutation_p.L856Q|PPFIBP1_ENST00000542629.1_Missense_Mutation_p.L831Q	p.L862Q	NM_001198916.1|NM_177444.2	NP_001185845.1|NP_803193.2	Q86W92	LIPB1_HUMAN			26	2868	+	Lung SC(9;0.0873)		862			SAM 3.		O75336|Q86X70|Q9NY03|Q9ULJ0	Missense_Mutation	SNP	ENST00000318304.8	37	c.2585T>A	CCDS55812.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	26.3|26.3	4.728896|4.728896	0.89390|0.89390	.|.	.|.	ENSG00000110841|ENSG00000110841	ENST00000539326|ENST00000540114;ENST00000537927;ENST00000318304;ENST00000542629;ENST00000228425	.|D;D;D;D;D	.|0.84589	.|-1.87;-1.87;-1.87;-1.87;-1.87	5.27|5.27	5.27|5.27	0.74061|0.74061	.|Sterile alpha motif domain (1);Sterile alpha motif/pointed domain (1);Sterile alpha motif, type 2 (1);	.|0.000000	.|0.28504	.|U	.|0.015103	D|D	0.93271|0.93271	0.7856|0.7856	M|M	0.88512|0.88512	2.96|2.96	0.80722|0.80722	D|D	1|1	.|D;D;D;D;D	.|0.89917	.|1.0;1.0;1.0;1.0;1.0	.|D;D;D;D;D	.|0.97110	.|1.0;0.999;1.0;0.992;1.0	D|D	0.94388|0.94388	0.7611|0.7611	5|10	.|0.72032	.|D	.|0.01	-10.122|-10.122	14.88|14.88	0.70525|0.70525	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|709;693;862;856;831	.|Q86W92-3;F5GZP6;Q86W92;Q86W92-2;Q86W92-4	.|.;.;LIPB1_HUMAN;.;.	S|Q	93|693;709;862;831;856	.|ENSP00000444304:L693Q;ENSP00000445425:L709Q;ENSP00000314724:L862Q;ENSP00000443442:L831Q;ENSP00000228425:L856Q	.|ENSP00000228425:L856Q	C|L	+|+	1|2	0|0	PPFIBP1|PPFIBP1	27733285|27733285	1.000000|1.000000	0.71417|0.71417	0.996000|0.996000	0.52242|0.52242	0.970000|0.970000	0.65996|0.65996	7.935000|7.935000	0.87658|0.87658	1.997000|1.997000	0.58415|0.58415	0.533000|0.533000	0.62120|0.62120	TGC|CTG		0.433	PPFIBP1-007	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402877.1	NM_003622		65	96	0	0	0	1	0	65	96					A	27842018	T	A	27842018	3	1	426	1	0	0	0	0	1	0	0	0	12313	1580	55	5	2707	5	PPFIBP1	12	27842018	Missense_Mutation	SNP	T	TCGA-XJ-A83F-01A-11D-A34U-08		27842018	106009877	24	20588											
LRRK2	120892	broad.mit.edu	37	chr12	40716261	40716261	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tatatagttttaatgatggtGaagaacatcaaaaaatctta	18	14	6	3	0	2	3	1	2	1	1	2	3	2	3	0	1	1	1	0	1	10	6			TCGA-XJ-A83F-01A-11D-A34U-08	TCGA-XJ-A83F-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaa16e66-2563-4c7c-8209-3e501185226e	d7ad26f0-ee2d-4a35-9f25-c860af727cbd	g.chr12:40716261G>A	ENST00000298910.7	+	37	5516	c.5458G>A	c.(5458-5460)Gaa>Aaa	p.E1820K		NM_198578.3	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	1820					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|autophagy (GO:0006914)|cellular protein localization (GO:0034613)|cellular response to dopamine (GO:1903351)|cellular response to manganese ion (GO:0071287)|cellular response to oxidative stress (GO:0034599)|determination of adult lifespan (GO:0008340)|endocytosis (GO:0006897)|exploration behavior (GO:0035640)|GTP catabolic process (GO:0006184)|intracellular distribution of mitochondria (GO:0048312)|intracellular signal transduction (GO:0035556)|locomotory exploration behavior (GO:0035641)|MAPK cascade (GO:0000165)|negative regulation of GTPase activity (GO:0034260)|negative regulation of hydrogen peroxide-induced cell death (GO:1903206)|negative regulation of late endosome to lysosome transport (GO:1902823)|negative regulation of peroxidase activity (GO:2000469)|negative regulation of protein binding (GO:0032091)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein processing (GO:0010955)|negative regulation of protein processing involved in protein targeting to mitochondrion (GO:1903217)|negative regulation of protein targeting to mitochondrion (GO:1903215)|negative regulation of thioredoxin peroxidase activity by peptidyl-threonine phosphorylation (GO:1903125)|neuromuscular junction development (GO:0007528)|neuron death (GO:0070997)|neuron projection morphogenesis (GO:0048812)|olfactory bulb development (GO:0021772)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of autophagy (GO:0010508)|positive regulation of dopamine receptor signaling pathway (GO:0060161)|positive regulation of GTPase activity (GO:0043547)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of programmed cell death (GO:0043068)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein autoubiquitination (GO:1902499)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination (GO:0031398)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reactive oxygen species metabolic process (GO:0072593)|regulation of branching morphogenesis of a nerve (GO:2000172)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of dopamine receptor signaling pathway (GO:0060159)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of kidney size (GO:0035564)|regulation of locomotion (GO:0040012)|regulation of membrane potential (GO:0042391)|regulation of mitochondrial depolarization (GO:0051900)|regulation of neuroblast proliferation (GO:1902692)|regulation of neuron death (GO:1901214)|regulation of neuron maturation (GO:0014041)|regulation of protein kinase A signaling (GO:0010738)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of synaptic vesicle exocytosis (GO:2000300)|regulation of synaptic vesicle transport (GO:1902803)|response to oxidative stress (GO:0006979)|small GTPase mediated signal transduction (GO:0007264)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytoplasmic side of mitochondrial outer membrane (GO:0032473)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite (GO:0030425)|dendrite cytoplasm (GO:0032839)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|inclusion body (GO:0016234)|lysosome (GO:0005764)|membrane raft (GO:0045121)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)|terminal bouton (GO:0043195)|trans-Golgi network (GO:0005802)	actin binding (GO:0003779)|ATP binding (GO:0005524)|clathrin binding (GO:0030276)|glycoprotein binding (GO:0001948)|GTP binding (GO:0005525)|GTP-dependent protein kinase activity (GO:0034211)|GTPase activator activity (GO:0005096)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|kinase activity (GO:0016301)|MAP kinase kinase activity (GO:0004708)|peroxidase inhibitor activity (GO:0036479)|protein homodimerization activity (GO:0042803)|protein kinase A binding (GO:0051018)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|Rho GTPase binding (GO:0017048)|SNARE binding (GO:0000149)|syntaxin-1 binding (GO:0017075)|tubulin binding (GO:0015631)			NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				TAATGATGGTGAAGAACATCA	0.348																																						ENST00000298910.7																			0				NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181						c.(5458-5460)Gaa>Aaa		leucine-rich repeat kinase 2							126	126	126					12																	40716261		2203	4300	6503	SO:0001583	missense	120892				activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding	g.chr12:40716261G>A	AK026776	CCDS31774.1	12q12	2011-07-21			ENSG00000188906	ENSG00000188906		"Parkinson disease"	18618	protein-coding gene	gene with protein product		609007	"Parkinson disease (autosomal dominant) 8"	PARK8		15541308	Standard	NM_198578		Approved	ROCO2, DKFZp434H2111, FLJ45829, RIPK7	uc001rmg.4	Q5S007	OTTHUMG00000059742	ENST00000298910.7:c.5458G>A	12.37:g.40716261G>A	ENSP00000298910:p.Glu1820Lys						p.E1820K	NM_198578.3	NP_940980.3	Q5S007	LRRK2_HUMAN			37	5516	+	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)	1820					A6NJU2|Q6ZS50|Q8NCX9	Missense_Mutation	SNP	ENST00000298910.7	37	c.5458G>A	CCDS31774.1	.	.	.	.	.	.	.	.	.	.	G	16.28	3.079726	0.55753	.	.	ENSG00000188906	ENST00000298910	T	0.72942	-0.7	5.58	5.58	0.84498	.	0.108393	0.64402	D	0.000005	T	0.51753	0.1693	N	0.08118	0	0.42493	D	0.992906	B;B	0.27013	0.166;0.166	B;B	0.23018	0.043;0.043	T	0.53479	-0.8433	10	0.44086	T	0.13	.	15.0937	0.72217	0.0:0.1412:0.8588:0.0	.	1820;1820	Q17RV3;Q5S007	.;LRRK2_HUMAN	K	1820	ENSP00000298910:E1820K	ENSP00000298910:E1820K	E	+	1	0	LRRK2	39002528	1.000000	0.71417	0.998000	0.56505	0.721000	0.41392	4.309000	0.59135	2.602000	0.87976	0.650000	0.86243	GAA		0.348	LRRK2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277179.1	XM_058513		33	50	0	0	0	1	0	33	50					A	40716261	G	A	40716261	3	1	426	1	0	0	0	0	1	0	0	0	9033	1291	45	3	5604	3	LRRK2	12	40716261	Missense_Mutation	SNP	G	TCGA-XJ-A83F-01A-11D-A34U-08	12874243	40716261	93135634	25	20589											
ANKRD33	341405	broad.mit.edu	37	chr12	52284523	52284523	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	actacaagcccgagtggccgGccttgtccgggctcgtggcc	5	7	14	15	4	0	0	0	0	0	0	2	1	1	0	5	4	2	1	5	4	2	2			TCGA-XJ-A83F-01A-11D-A34U-08	TCGA-XJ-A83F-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaa16e66-2563-4c7c-8209-3e501185226e	d7ad26f0-ee2d-4a35-9f25-c860af727cbd	g.chr12:52284523G>C	ENST00000340970.4	+	5	789	c.418G>C	c.(418-420)Gcc>Ccc	p.A140P	ANKRD33_ENST00000547119.1_3'UTR|ANKRD33_ENST00000301190.6_Missense_Mutation_p.A265P|ANKRD33_ENST00000538991.1_Missense_Mutation_p.A71P			Q7Z3H0	ANR33_HUMAN	ankyrin repeat domain 33	140					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|skeletal muscle cell differentiation (GO:0035914)	cytosol (GO:0005829)|nucleus (GO:0005634)				endometrium(2)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	22				BRCA - Breast invasive adenocarcinoma(357;0.0969)		CGAGTGGCCGGCCTTGTCCGG	0.667																																						ENST00000301190.6																			0				endometrium(2)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	22						c.(793-795)Gcc>Ccc		ankyrin repeat domain 33							19	21	21					12																	52284523		2203	4299	6502	SO:0001583	missense	341405							g.chr12:52284523G>C		CCDS8815.1, CCDS44892.1	12q13.13	2013-01-10	2005-01-07	2005-01-07		ENSG00000167612		"Ankyrin repeat domain containing"	13788	protein-coding gene	gene with protein product			"chromosome 12 open reading frame 7"	C12orf7		20026326	Standard	NM_182608		Approved	DKFZp686O1689, PANKY	uc001rzd.3	Q7Z3H0	OTTHUMG00000169506	ENST00000340970.4:c.418G>C	12.37:g.52284523G>C	ENSP00000344690:p.Ala140Pro					ANKRD33_ENST00000547119.1_3'UTR|ANKRD33_ENST00000538991.1_Missense_Mutation_p.A71P|ANKRD33_ENST00000340970.4_Missense_Mutation_p.A140P	p.A265P	NM_001130015.1|NM_182608.3	NP_001123487.1|NP_872414.3	Q7Z3H0	ANR33_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.0969)	5	1020	+			140					Q0VAA7|Q5K619|Q5K621|Q5K622|Q5K623|Q5K624|Q6ZUN0	Missense_Mutation	SNP	ENST00000340970.4	37	c.793G>C	CCDS44892.1	.	.	.	.	.	.	.	.	.	.	G	8.865	0.947808	0.18356	.	.	ENSG00000167612	ENST00000301190;ENST00000538991;ENST00000340970	T;T;T	0.23754	2.01;1.89;2.35	4.7	1.29	0.21616	.	0.382752	0.26840	N	0.022237	T	0.12860	0.0312	N	0.19112	0.55	0.20196	N	0.999929	B;B;B	0.24186	0.06;0.099;0.011	B;B;B	0.22753	0.011;0.041;0.018	T	0.25257	-1.0137	10	0.22706	T	0.39	0.1423	6.3382	0.21309	0.123:0.3304:0.5465:0.0	.	140;71;265	Q7Z3H0;Q0VAA8;Q7Z3H0-2	ANR33_HUMAN;.;.	P	265;71;140	ENSP00000301190:A265P;ENSP00000443722:A71P;ENSP00000344690:A140P	ENSP00000301190:A265P	A	+	1	0	ANKRD33	50570790	0.006000	0.16342	0.467000	0.27180	0.714000	0.41099	1.398000	0.34554	0.126000	0.18424	0.561000	0.74099	GCC		0.667	ANKRD33-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404515.1	NM_182608		5	11	0	0	0	1	0	5	11					C	52284523	G	C	52284523	3	2	426	1	0	0	0	0	1	0	0	0	661	1203	42	5	841	5	ANKRD33	12	52284523	Missense_Mutation	SNP	G	TCGA-XJ-A83F-01A-11D-A34U-08	11568262	52284523	81567372	26	20590											
ABCB9	23457	broad.mit.edu	37	chr12	123419855	123419855	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggagttccatgatgaagcCgtgggcattggccttctgtg	6	12	14	9	1	1	2	0	2	1	0	2	3	2	3	3	3	1	2	3	3	1	3	rs147328787		TCGA-XJ-A83F-01A-11D-A34U-08	TCGA-XJ-A83F-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaa16e66-2563-4c7c-8209-3e501185226e	d7ad26f0-ee2d-4a35-9f25-c860af727cbd	g.chr12:123419855C>T	ENST00000542678.1	-	10	4705	c.1867G>A	c.(1867-1869)Ggc>Agc	p.G623S	ABCB9_ENST00000540285.1_Missense_Mutation_p.G560S|ABCB9_ENST00000392439.3_Missense_Mutation_p.G623S|ABCB9_ENST00000346530.5_Missense_Mutation_p.G580S|ABCB9_ENST00000442833.2_Missense_Mutation_p.G623S|ABCB9_ENST00000344275.7_Missense_Mutation_p.G623S|ABCB9_ENST00000442028.2_Missense_Mutation_p.G623S|ABCB9_ENST00000280560.8_Missense_Mutation_p.G623S			Q9NP78	ABCB9_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 9	623	ABC transporter. {ECO:0000255|PROSITE- ProRule:PRU00434}.				peptide transport (GO:0015833)|protein transport (GO:0015031)|transmembrane transport (GO:0055085)	integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)	ATP binding (GO:0005524)|peptide-transporting ATPase activity (GO:0015440)|protein homodimerization activity (GO:0042803)|substrate-specific transmembrane transporter activity (GO:0022891)			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(1)|skin(1)	18	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.84e-05)|Epithelial(86;0.000152)|BRCA - Breast invasive adenocarcinoma(302;0.111)		ATGATGAAGCCGTGGGCATTG	0.627																																					Ovarian(49;786 1333 9175 38236)	ENST00000542678.1																			0				central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(1)|skin(1)	18						c.(1867-1869)Ggc>Agc		ATP-binding cassette, sub-family B (MDR/TAP), member 9		C	SER/GLY,SER/GLY,SER/GLY	0,4406		0,0,2203	73	52	59		1738,1867,1867	3.3	0.6	12	dbSNP_134	59	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	ABCB9	NM_019624.3,NM_019625.3,NM_203444.3	56,56,56	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign,benign,benign	580/724,623/767,623/767	123419855	1,13005	2203	4300	6503	SO:0001583	missense	23457				positive regulation of T cell mediated cytotoxicity|protein transport	lysosomal membrane|plasma membrane|TAP complex	ATP binding|MHC class I protein binding|oligopeptide-transporting ATPase activity|peptide antigen binding|protein homodimerization activity|TAP1 binding|TAP2 binding|tapasin binding	g.chr12:123419855C>T	U66676	CCDS9241.1, CCDS58286.1, CCDS58287.1, CCDS58288.1	12q24	2012-03-14			ENSG00000150967	ENSG00000150967		"ATP binding cassette transporters / subfamily B"	50	protein-coding gene	gene with protein product		605453				8894702	Standard	NM_019625		Approved	EST122234	uc001udm.4	Q9NP78		ENST00000542678.1:c.1867G>A	12.37:g.123419855C>T	ENSP00000440288:p.Gly623Ser					ABCB9_ENST00000344275.7_Missense_Mutation_p.G623S|ABCB9_ENST00000392439.3_Missense_Mutation_p.G623S|ABCB9_ENST00000280560.8_Missense_Mutation_p.G623S|ABCB9_ENST00000346530.5_Missense_Mutation_p.G580S|ABCB9_ENST00000442028.2_Missense_Mutation_p.G623S|ABCB9_ENST00000442833.2_Missense_Mutation_p.G623S|ABCB9_ENST00000540285.1_Missense_Mutation_p.G560S	p.G623S			Q9NP78	ABCB9_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;6.84e-05)|Epithelial(86;0.000152)|BRCA - Breast invasive adenocarcinoma(302;0.111)	10	4705	-	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		623			ABC transporter.		B4E2J0|Q5W9G7|Q769F3|Q769F4|Q96AB1|Q9P208	Missense_Mutation	SNP	ENST00000542678.1	37	c.1867G>A	CCDS9241.1	.	.	.	.	.	.	.	.	.	.	C	2.678	-0.276030	0.05679	0.0	1.16E-4	ENSG00000150967	ENST00000280560;ENST00000540285;ENST00000346530;ENST00000392439;ENST00000542678;ENST00000442028;ENST00000546289;ENST00000542448	D;D;D;D;D;D;D;D	0.90197	-2.63;-2.63;-2.63;-2.63;-2.63;-2.63;-2.63;-2.63	5.14	3.31	0.37934	ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.460627	0.23937	N	0.043092	T	0.68760	0.3036	N	0.00960	-1.095	0.09310	N	1	B;B;B;B;B	0.28291	0.206;0.015;0.046;0.038;0.006	B;B;B;B;B	0.23150	0.041;0.021;0.044;0.009;0.017	T	0.61720	-0.7005	10	0.27785	T	0.31	-21.4494	5.0712	0.14608	0.1394:0.5732:0.0:0.2874	.	560;230;342;580;623	B4E2J0;B4DFR8;B3KNJ8;Q9NP78-2;Q9NP78	.;.;.;.;ABCB9_HUMAN	S	623;560;580;623;623;623;167;249	ENSP00000280560:G623S;ENSP00000441734:G560S;ENSP00000280559:G580S;ENSP00000376234:G623S;ENSP00000440288:G623S;ENSP00000394898:G623S;ENSP00000442281:G167S;ENSP00000440244:G249S	ENSP00000280560:G623S	G	-	1	0	ABCB9	121985808	0.000000	0.05858	0.574000	0.28523	0.643000	0.38383	0.286000	0.18902	0.549000	0.28973	0.563000	0.77884	GGC		0.627	ABCB9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400956.1	NM_019624		14	22	0	0	0	1	0	14	22					T	123419855	C	T	123419855	3	4	426	1	0	0	0	0	1	0	0	0	48	652	23	2	445	2	ABCB9	12	123419855	Missense_Mutation	SNP	C	TCGA-XJ-A83F-01A-11D-A34U-08	71135332	123419855	10432040	27	20591											
SLITRK5	26050	broad.mit.edu	37	chr13	88329124	88329124	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctccagtacaatctcatccGcgagattcagtctggaactt	10	11	7	13	2	3	1	2	0	2	1	6	3	5	2	3	1	2	1	3	1	3	3	rs139493330	byFrequency	TCGA-XJ-A83F-01A-11D-A34U-08	TCGA-XJ-A83F-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaa16e66-2563-4c7c-8209-3e501185226e	d7ad26f0-ee2d-4a35-9f25-c860af727cbd	g.chr13:88329124G>A	ENST00000325089.6	+	2	1700	c.1481G>A	c.(1480-1482)cGc>cAc	p.R494H	SLITRK5_ENST00000400028.3_Missense_Mutation_p.R253H	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5	494					adult behavior (GO:0030534)|axonogenesis (GO:0007409)|cardiovascular system development (GO:0072358)|dendrite morphogenesis (GO:0048813)|grooming behavior (GO:0007625)|response to xenobiotic stimulus (GO:0009410)|skin development (GO:0043588)|striatum development (GO:0021756)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81	all_neural(89;0.101)|Medulloblastoma(90;0.163)					AATCTCATCCGCGAGATTCAG	0.542																																						ENST00000325089.6																			0				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81						c.(1480-1482)cGc>cAc		SLIT and NTRK-like family, member 5							76	78	78					13																	88329124		2203	4300	6503	SO:0001583	missense	26050					integral to membrane		g.chr13:88329124G>A	AB020725	CCDS9465.1	13q31.1	2004-04-16	2004-01-08		ENSG00000165300	ENSG00000165300			20295	protein-coding gene	gene with protein product		609680	"leucine rich repeat containing 11"	LRRC11		10048485, 14557068	Standard	NM_015567		Approved	bA364G4.2, KIAA0918	uc001vln.3	O94991	OTTHUMG00000017167	ENST00000325089.6:c.1481G>A	13.37:g.88329124G>A	ENSP00000366283:p.Arg494His					SLITRK5_ENST00000400028.3_Missense_Mutation_p.R253H	p.R494H	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN			2	1700	+	all_neural(89;0.101)|Medulloblastoma(90;0.163)		494					B3KNB8|B4DSH5|Q5VT81	Missense_Mutation	SNP	ENST00000325089.6	37	c.1481G>A	CCDS9465.1	.	.	.	.	.	.	.	.	.	.	G	10.70	1.422913	0.25639	.	.	ENSG00000165300	ENST00000325089;ENST00000400028	T;D	0.83755	0.63;-1.76	5.23	5.23	0.72850	.	0.069051	0.64402	D	0.000012	T	0.67306	0.2879	N	0.20483	0.58	0.39988	D	0.975003	P;B	0.39576	0.679;0.425	B;B	0.34038	0.174;0.097	T	0.67703	-0.5602	9	.	.	.	-14.5966	9.8421	0.41004	0.0934:0.0:0.9066:0.0	.	253;494	B4DSH5;O94991	.;SLIK5_HUMAN	H	494;253	ENSP00000366283:R494H;ENSP00000442244:R253H	.	R	+	2	0	SLITRK5	87127125	0.832000	0.29368	0.647000	0.29507	0.887000	0.51463	3.936000	0.56568	2.426000	0.82243	0.561000	0.74099	CGC		0.542	SLITRK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045416.3			8	96	0	0	0	1	0	8	96					A	88329124	G	A	88329124	3	1	426	1	0	0	0	0	1	0	0	0	14746	1087	38	1	1483	1	SLITRK5	13	88329124	Missense_Mutation	SNP	G	TCGA-XJ-A83F-01A-11D-A34U-08		88329124	26840754	28	20592											
AHNAK2	113146	broad.mit.edu	37	chr14	105418145	105418145	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ctccaggtcagcggaaggggGctgaatgctgaggtcagtgg	8	7	18	8	1	2	2	2	2	0	0	3	3	3	3	1	6	2	2	1	6	2	0	rs375277628	byFrequency	TCGA-XJ-A83F-01A-11D-A34U-08	TCGA-XJ-A83F-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaa16e66-2563-4c7c-8209-3e501185226e	d7ad26f0-ee2d-4a35-9f25-c860af727cbd	g.chr14:105418145G>A	ENST00000333244.5	-	7	3762	c.3643C>T	c.(3643-3645)Ccc>Tcc	p.P1215S	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	1215						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GCGGAAGGGGGCTGAATGCTG	0.647													.|||	6	0.00119808	0	0	5008	,	,		15037	0		0.001	False		,,,				2504	0.0051					ENST00000333244.5																			0				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33						c.(3643-3645)Ccc>Tcc		AHNAK nucleoprotein 2		G	SER/PRO	2,3852		0,2,1925	96	70	79		3643	1.6	0	14		79	3,7607		0,3,3802	no	missense	AHNAK2	NM_138420.2	74	0,5,5727	AA,AG,GG		0.0394,0.0519,0.0436	benign	1215/5796	105418145	5,11459	1927	3805	5732	SO:0001583	missense	113146					nucleus		g.chr14:105418145G>A	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"chromosome 14 open reading frame 78"	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.3643C>T	14.37:g.105418145G>A	ENSP00000353114:p.Pro1215Ser					AHNAK2_ENST00000557457.1_Intron	p.P1215S	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)		7	3762	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	1215					Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	ENST00000333244.5	37	c.3643C>T	CCDS45177.1	.	.	.	.	.	.	.	.	.	.	g	9.389	1.074896	0.20227	5.19E-4	3.94E-4	ENSG00000185567	ENST00000333244	T	0.00840	5.63	4.55	1.58	0.23477	.	.	.	.	.	T	0.00695	0.0023	N	0.25201	0.72	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.46512	-0.9186	9	0.08837	T	0.75	.	5.6981	0.17867	0.0766:0.3467:0.4538:0.1229	.	1215	Q8IVF2	AHNK2_HUMAN	S	1215	ENSP00000353114:P1215S	ENSP00000353114:P1215S	P	-	1	0	AHNAK2	104489190	.	.	0.009000	0.14445	0.004000	0.04260	.	.	0.383000	0.24910	-1.447000	0.01057	CCC		0.647	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		3	1	0	0	0	1	0	3	1					A	105418145	G	A	105418145	3	1	426	1	0	0	0	0	1	0	0	0	415	1203	42	3	13748	3	AHNAK2	14	105418145	Missense_Mutation	SNP	G	TCGA-XJ-A83F-01A-11D-A34U-08		105418145	1931395	29	20593											
STRC	161497	broad.mit.edu	37	chr15	43910307	43910307	+	Frame_Shift_Del	DEL	G	G	-																															cctagcattggctcccagtcGgggctacctctcagtgtcac																										TCGA-XJ-A83F-01A-11D-A34U-08	TCGA-XJ-A83F-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaa16e66-2563-4c7c-8209-3e501185226e	d7ad26f0-ee2d-4a35-9f25-c860af727cbd	g.chr15:43910307delG	ENST00000450892.2	-	2	389	c.312delC	c.(310-312)cccfs	p.P104fs	STRC_ENST00000541030.1_5'UTR	NM_153700.2	NP_714544.1	Q7RTU9	STRC_HUMAN	stereocilin	104					auditory receptor cell stereocilium organization (GO:0060088)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)	kinocilium (GO:0060091)|stereocilium bundle tip (GO:0032426)				skin(4)	4		all_cancers(109;3.26e-15)|all_epithelial(112;1.48e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.56e-07)		GCTCCCAGTCGGGGCTACCTC	0.622																																						ENST00000450892.2																			0				skin(4)	4						c.(310-312)ccfs		stereocilin							2	3	3					15																	43910307		1464	3392	4856	SO:0001589	frameshift_variant	161497				sensory perception of sound	cell surface		g.chr15:43910307delG	BK000138	CCDS10098.1	15q15.3	2010-02-26			ENSG00000242866	ENSG00000242866			16035	protein-coding gene	gene with protein product		606440		DFNB16		11687802, 9429146	Standard	NM_153700		Approved		uc001zsf.3	Q7RTU9	OTTHUMG00000059899	ENST00000450892.2:c.312delC	15.37:g.43910307delG	ENSP00000401513:p.Pro104fs					STRC_ENST00000541030.1_5'UTR	p.P104fs	NM_153700.2	NP_714544.1	Q7RTU9	STRC_HUMAN		GBM - Glioblastoma multiforme(94;3.56e-07)	2	389	-		all_cancers(109;3.26e-15)|all_epithelial(112;1.48e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)	104						Frame_Shift_Del	DEL	ENST00000450892.2	37	c.312delC	CCDS10098.1																																																																																				0.622	STRC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133140.1	NM_153700		2	4						2	4	---	---	---	---	-	43910307	G	-	43910307	7	5	426	1	0	1	0	1	0	0	0	0	15327	1103	39	0	5127	0	STRC	15	43910307	Frame_Shift_Del	DEL	G	TCGA-XJ-A83F-01A-11D-A34U-08		43910307	58621085	30	20594											
SEMA7A	8482	broad.mit.edu	37	chr15	74703250	74703250	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggcgccatgagtaggtggcGtggcgggattccatggggca	6	8	19	8	3	0	1	0	1	0	0	1	2	1	2	2	7	0	2	2	7	1	2	rs199507109		TCGA-XJ-A83F-01A-11D-A34U-08	TCGA-XJ-A83F-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaa16e66-2563-4c7c-8209-3e501185226e	d7ad26f0-ee2d-4a35-9f25-c860af727cbd	g.chr15:74703250G>A	ENST00000261918.4	-	14	2264	c.1716C>T	c.(1714-1716)caC>caT	p.H572H	SEMA7A_ENST00000543145.2_Silent_p.H558H|SEMA7A_ENST00000542748.1_Silent_p.H407H	NM_003612.3	NP_003603.1	O75326	SEM7A_HUMAN	semaphorin 7A, GPI membrane anchor (John Milton Hagen blood group)	572	Ig-like C2-type.				axon extension (GO:0048675)|axon guidance (GO:0007411)|immune response (GO:0006955)|inflammatory response (GO:0006954)|integrin-mediated signaling pathway (GO:0007229)|olfactory lobe development (GO:0021988)|osteoblast differentiation (GO:0001649)|positive regulation of axon extension (GO:0045773)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of macrophage cytokine production (GO:0060907)|positive regulation of protein phosphorylation (GO:0001934)|regulation of inflammatory response (GO:0050727)	anchored component of membrane (GO:0031225)|external side of plasma membrane (GO:0009897)|membrane (GO:0016020)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			breast(3)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(3)|lung(12)|upper_aerodigestive_tract(1)	30						AGTAGGTGGCGTGGCGGGATT	0.622													G|||	1	0.000199681	8e-04	0	5008	,	,		19090	0		0	False		,,,				2504	0					ENST00000261918.4																			0				breast(3)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(3)|lung(12)|upper_aerodigestive_tract(1)	30						c.(1714-1716)caC>caT		semaphorin 7A, GPI membrane anchor (John Milton Hagen blood group)		G	,,	1,4393	2.1+/-5.4	0,1,2196	102	103	103		1674,1221,1716	-3.7	1	15		103	0,8592		0,0,4296	no	coding-synonymous,coding-synonymous,coding-synonymous	SEMA7A	NM_001146029.1,NM_001146030.1,NM_003612.3	,,	0,1,6492	AA,AG,GG		0.0,0.0228,0.0077	,,	558/653,407/502,572/667	74703250	1,12985	2197	4296	6493	SO:0001819	synonymous_variant	8482				axon guidance|immune response|inflammatory response|integrin-mediated signaling pathway|positive regulation of axon extension|positive regulation of ERK1 and ERK2 cascade|positive regulation of macrophage cytokine production|regulation of inflammatory response	anchored to membrane|external side of plasma membrane	receptor activity	g.chr15:74703250G>A	AF069493	CCDS10262.1, CCDS53958.1, CCDS53959.1	15q22.3-q23	2014-07-18	2006-02-23		ENSG00000138623	ENSG00000138623		"Semaphorins", "CD molecules", "Blood group antigens", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	10741	protein-coding gene	gene with protein product	"John Milton Hagen blood group", "H-Sema K1"	607961	"sema domain, immunoglobulin domain (Ig), and GPI membrane anchor, (semaphorin) 7A", "sema domain, immunoglobulin domain (Ig), and GPI membrane anchor, (semaphorin) 7A (JMH blood group)"	SEMAL		9721204	Standard	NM_003612		Approved	H-Sema-L, CD108	uc002axv.3	O75326	OTTHUMG00000139000	ENST00000261918.4:c.1716C>T	15.37:g.74703250G>A						SEMA7A_ENST00000542748.1_Silent_p.H407H|SEMA7A_ENST00000543145.2_Silent_p.H558H	p.H572H	NM_003612.3	NP_003603.1	O75326	SEM7A_HUMAN			14	2264	-			572			Ig-like C2-type.		B4DDP7|F5H1S0|Q1XE81|Q1XE82|Q1XE83|Q1XE84|Q3MIY5	Silent	SNP	ENST00000261918.4	37	c.1716C>T	CCDS10262.1																																																																																				0.622	SEMA7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000272904.3	NM_003612		41	70	0	0	0	1	0	41	70					A	74703250	G	A	74703250	2	1	426	1	0	0	0	0	0	0	0	1	14043	1136	40	1		1	SEMA7A	15	74703250	Silent	SNP	G	TCGA-XJ-A83F-01A-11D-A34U-08	30792943	74703250	27828142	31	20595											
ATP2A1	487	broad.mit.edu	37	chr16	28898525	28898525	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacaggcgagtctgtatctgTcatcaaacacacggagcccg	11	7	10	13	3	4	0	2	0	2	0	4	2	4	1	1	2	2	1	1	2	2	1			TCGA-XJ-A83F-01A-11D-A34U-08	TCGA-XJ-A83F-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaa16e66-2563-4c7c-8209-3e501185226e	d7ad26f0-ee2d-4a35-9f25-c860af727cbd	g.chr16:28898525T>C	ENST00000357084.3	+	7	827	c.560T>C	c.(559-561)gTc>gCc	p.V187A	ATP2A1_ENST00000536376.1_Missense_Mutation_p.V62A|ATP2A1_ENST00000395503.4_Missense_Mutation_p.V187A	NM_173201.3	NP_775293.1	O14983	AT2A1_HUMAN	ATPase, Ca++ transporting, cardiac muscle, fast twitch 1	187					apoptotic mitochondrial changes (GO:0008637)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|ion transmembrane transport (GO:0034220)|maintenance of mitochondrion location (GO:0051659)|negative regulation of endoplasmic reticulum calcium ion concentration (GO:0032471)|negative regulation of striated muscle contraction (GO:0045988)|positive regulation of endoplasmic reticulum calcium ion concentration (GO:0032470)|positive regulation of fast-twitch skeletal muscle fiber contraction (GO:0031448)|positive regulation of mitochondrial calcium ion concentration (GO:0051561)|regulation of striated muscle contraction (GO:0006942)|relaxation of skeletal muscle (GO:0090076)|response to endoplasmic reticulum stress (GO:0034976)|transmembrane transport (GO:0055085)	calcium channel complex (GO:0034704)|endoplasmic reticulum membrane (GO:0005789)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|H zone (GO:0031673)|I band (GO:0031674)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|platelet dense tubular network membrane (GO:0031095)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calcium-transporting ATPase activity (GO:0005388)|protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	38						TCTGTATCTGTCATCAAACAC	0.562																																						ENST00000395503.4																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	38						c.(559-561)gTc>gCc		ATPase, Ca++ transporting, cardiac muscle, fast twitch 1							101	99	99					16																	28898525		2197	4300	6497	SO:0001583	missense	487				apoptosis in response to endoplasmic reticulum stress|apoptotic mitochondrial changes|ATP biosynthetic process|calcium ion import|elevation of endoplasmic reticulum calcium ion concentration|elevation of mitochondrial calcium ion concentration|maintenance of mitochondrion location|negative regulation of striated muscle contraction|platelet activation|positive regulation of fast-twitch skeletal muscle fiber contraction|reduction of endoplasmic reticulum calcium ion concentration|relaxation of skeletal muscle|response to endoplasmic reticulum stress	endoplasmic reticulum membrane|ER-Golgi intermediate compartment|H zone|I band|microsome|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum|sarcoplasmic reticulum membrane	ATP binding|calcium ion binding|calcium-transporting ATPase activity|protein homodimerization activity	g.chr16:28898525T>C		CCDS10643.1, CCDS42139.1, CCDS66997.1	16p12.1	2012-10-22			ENSG00000196296	ENSG00000196296	3.6.3.8	"ATPases / P-type"	811	protein-coding gene	gene with protein product	"sarcoplasmic/endoplasmic reticulum calcium ATPase 1", "calcium pump 1"	108730		ATP2A			Standard	NM_004320		Approved	SERCA1	uc002dro.1	O14983	OTTHUMG00000131760	ENST00000357084.3:c.560T>C	16.37:g.28898525T>C	ENSP00000349595:p.Val187Ala					ATP2A1_ENST00000536376.1_Missense_Mutation_p.V62A|ATP2A1_ENST00000357084.3_Missense_Mutation_p.V187A	p.V187A	NM_004320.4	NP_004311.1	O14983	AT2A1_HUMAN			7	744	+			187					A8K5J9|B3KY17|O14984	Missense_Mutation	SNP	ENST00000357084.3	37	c.560T>C	CCDS10643.1	.	.	.	.	.	.	.	.	.	.	T	20.8	4.053771	0.75960	.	.	ENSG00000196296	ENST00000357084;ENST00000395503;ENST00000395498;ENST00000536376	D;D;D	0.93488	-3.23;-3.23;-3.23	5.34	4.23	0.50019	ATPase, P-type, ATPase-associated domain (1);ATPase,  P-type, cytoplasmic transduction domain A (1);	0.000000	0.85682	D	0.000000	D	0.95701	0.8602	M	0.74389	2.26	0.54753	D	0.999984	D;P;B	0.58268	0.982;0.703;0.449	D;P;B	0.68192	0.956;0.646;0.395	D	0.95043	0.8180	10	0.66056	D	0.02	.	10.782	0.46384	0.1423:0.0:0.0:0.8577	.	62;187;187	B3KY17;O14983;O14983-2	.;AT2A1_HUMAN;.	A	187;187;224;62	ENSP00000349595:V187A;ENSP00000378879:V187A;ENSP00000443101:V62A	ENSP00000349595:V187A	V	+	2	0	ATP2A1	28806026	1.000000	0.71417	1.000000	0.80357	0.827000	0.46813	7.988000	0.88194	0.833000	0.34828	0.460000	0.39030	GTC		0.562	ATP2A1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254686.2	NM_004320		10	76	0	0	0	1	0	10	76					C	28898525	T	C	28898525	3	2	426	1	0	0	0	0	1	0	0	0	1136	1667	58	4	586	4	ATP2A1	16	28898525	Missense_Mutation	SNP	T	TCGA-XJ-A83F-01A-11D-A34U-08		28898525	61456228	32	20596											
SERPINF2	5345	broad.mit.edu	37	chr17	1649162	1649162	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctgccccaacctcatcctgtCacccctgagtgtggccctgg	5	9	9	18	0	2	1	2	1	0	0	3	1	3	1	7	2	2	0	7	2	1	0			TCGA-XJ-A83F-01A-11D-A34U-08	TCGA-XJ-A83F-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaa16e66-2563-4c7c-8209-3e501185226e	d7ad26f0-ee2d-4a35-9f25-c860af727cbd	g.chr17:1649162C>T	ENST00000324015.3	+	5	403	c.326C>T	c.(325-327)tCa>tTa	p.S109L	SERPINF2_ENST00000450523.2_Intron|SERPINF2_ENST00000382061.4_Missense_Mutation_p.S109L	NM_000934.3	NP_000925.2	P08697	A2AP_HUMAN	serpin peptidase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 2	109					acute-phase response (GO:0006953)|blood coagulation (GO:0007596)|blood vessel morphogenesis (GO:0048514)|collagen fibril organization (GO:0030199)|fibrinolysis (GO:0042730)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of fibrinolysis (GO:0051918)|negative regulation of plasminogen activation (GO:0010757)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell-cell adhesion mediated by cadherin (GO:2000049)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of JNK cascade (GO:0046330)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transforming growth factor beta production (GO:0071636)|regulation of blood vessel size by renin-angiotensin (GO:0002034)|regulation of proteolysis (GO:0030162)|response to organic substance (GO:0010033)	blood microparticle (GO:0072562)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|platelet alpha granule lumen (GO:0031093)	endopeptidase inhibitor activity (GO:0004866)|protease binding (GO:0002020)|protein homodimerization activity (GO:0042803)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(2)|endometrium(1)|kidney(2)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)	Ocriplasmin(DB08888)	CTCATCCTGTCACCCCTGAGT	0.627																																						ENST00000324015.3																			0				breast(2)|endometrium(1)|kidney(2)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						c.(325-327)tCa>tTa		serpin peptidase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 2	Streptokinase(DB00086)						133	135	134					17																	1649162		2203	4300	6503	SO:0001583	missense	5345				acute-phase response|fibrinolysis|platelet activation|platelet degranulation|regulation of proteolysis	extracellular space|platelet alpha granule lumen	protease binding|serine-type endopeptidase inhibitor activity	g.chr17:1649162C>T	D00174	CCDS11011.1, CCDS54064.1	17p13.3	2014-02-18	2005-08-18		ENSG00000167711	ENSG00000167711		"Serine (or cysteine) peptidase inhibitors"	9075	protein-coding gene	gene with protein product	"alpha-2-plasmin inhibitor", "alpha-2-antiplasmin"	613168	"serine (or cysteine) proteinase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 2"	PLI		3416655, 24172014	Standard	NM_000934		Approved	API, ALPHA-2-PI, A2AP, AAP	uc002ftk.1	P08697	OTTHUMG00000090552	ENST00000324015.3:c.326C>T	17.37:g.1649162C>T	ENSP00000321853:p.Ser109Leu					SERPINF2_ENST00000450523.2_Intron|SERPINF2_ENST00000382061.4_Missense_Mutation_p.S109L	p.S109L	NM_000934.3	NP_000925.2	P08697	A2AP_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)	5	403	+			109					B4E1B7|Q8N5U7|Q9UCG2|Q9UCG3	Missense_Mutation	SNP	ENST00000324015.3	37	c.326C>T	CCDS11011.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.164865	0.78339	.	.	ENSG00000167711	ENST00000453066;ENST00000324015;ENST00000453723;ENST00000382061	D;D;T;D	0.95588	-3.75;-3.75;-0.32;-3.75	5.39	5.39	0.77823	Serpin domain (3);	0.000000	0.85682	D	0.000000	D	0.98664	0.9552	H	0.96633	3.855	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99628	1.0985	10	0.87932	D	0	.	19.1422	0.93450	0.0:1.0:0.0:0.0	.	109	P08697	A2AP_HUMAN	L	109	ENSP00000402286:S109L;ENSP00000321853:S109L;ENSP00000402056:S109L;ENSP00000371493:S109L	ENSP00000321853:S109L	S	+	2	0	SERPINF2	1595912	1.000000	0.71417	0.980000	0.43619	0.952000	0.60782	6.168000	0.71908	2.530000	0.85305	0.561000	0.74099	TCA		0.627	SERPINF2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207078.3	NM_000934		40	80	0	0	0	1	0	40	80					T	1649162	C	T	1649162	3	4	426	1	0	0	0	0	1	0	0	0	14115	838	29	3	350	3	SERPINF2	17	1649162	Missense_Mutation	SNP	C	TCGA-XJ-A83F-01A-11D-A34U-08		1649162	79546048	33	20597											
MC4R	4160	broad.mit.edu	37	chr18	58039090	58039090	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acttatgatgatcccaacccGcttaactgtcataatgttat	12	14	5	10	1	1	2	1	2	0	0	2	2	2	2	2	0	2	2	2	0	5	4	rs13447332		TCGA-XJ-A83F-01A-11D-A34U-08	TCGA-XJ-A83F-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaa16e66-2563-4c7c-8209-3e501185226e	d7ad26f0-ee2d-4a35-9f25-c860af727cbd	g.chr18:58039090G>A	ENST00000299766.3	-	1	911	c.493C>T	c.(493-495)Cgg>Tgg	p.R165W		NM_005912.2	NP_005903.2	P32245	MC4R_HUMAN	melanocortin 4 receptor	165			R -> Q (in obesity; shows a partial cAMP response to alpha-MSH; dbSNP:rs13447332). {ECO:0000269|PubMed:12588803, ECO:0000269|PubMed:12646665, ECO:0000269|PubMed:15486053}.|R -> W (in obesity; dbSNP:rs13447332). {ECO:0000269|PubMed:10199800}.		adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|diet induced thermogenesis (GO:0002024)|energy reserve metabolic process (GO:0006112)|feeding behavior (GO:0007631)|insulin secretion (GO:0030073)|negative regulation of feeding behavior (GO:2000252)|positive regulation of bone resorption (GO:0045780)|positive regulation of cAMP biosynthetic process (GO:0030819)|regulation of grooming behavior (GO:2000821)|response to insulin (GO:0032868)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	melanocortin receptor activity (GO:0004977)|melanocyte-stimulating hormone receptor activity (GO:0004980)|neuropeptide binding (GO:0042923)|peptide hormone binding (GO:0017046)|ubiquitin protein ligase binding (GO:0031625)			endometrium(2)|kidney(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	17		Colorectal(73;0.0946)				ATCCCAACCCGCTTAACTGTC	0.433																																						ENST00000299766.3																			0				endometrium(2)|kidney(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	17	GRCh37	CM990834	MC4R	M	rs13447332	c.(493-495)Cgg>Tgg		melanocortin 4 receptor							93	84	87					18																	58039090		2203	4300	6503	SO:0001583	missense	4160				feeding behavior|G-protein signaling, coupled to cAMP nucleotide second messenger|positive regulation of bone resorption|positive regulation of cAMP biosynthetic process	integral to membrane|plasma membrane	melanocyte-stimulating hormone receptor activity|neuropeptide binding|ubiquitin protein ligase binding	g.chr18:58039090G>A	AY236539	CCDS11976.1	18q22	2012-08-10			ENSG00000166603	ENSG00000166603		"GPCR / Class A : Melanocortin receptors"	6932	protein-coding gene	gene with protein product		155541				7949735, 9763669	Standard	NM_005912		Approved		uc002lie.1	P32245	OTTHUMG00000132766	ENST00000299766.3:c.493C>T	18.37:g.58039090G>A	ENSP00000299766:p.Arg165Trp						p.R165W	NM_005912.2	NP_005903.2	P32245	MC4R_HUMAN			1	911	-		Colorectal(73;0.0946)	165		R -> Q (in obesity; shows a partial cAMP response to alpha-MSH; dbSNP:rs13447332).|R -> W (in obesity; dbSNP:rs13447332).			B2RAC3|Q16317|Q3MIJ6	Missense_Mutation	SNP	ENST00000299766.3	37	c.493C>T	CCDS11976.1	.	.	.	.	.	.	.	.	.	.	G	18.50	3.638497	0.67130	.	.	ENSG00000166603	ENST00000299766	T	0.41065	1.01	5.85	4.95	0.65309	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.75852	0.3906	H	0.97896	4.1	0.58432	D	0.999998	D	0.89917	1.0	D	0.91635	0.999	T	0.83351	-0.0003	10	0.87932	D	0	.	12.1827	0.54221	0.0:0.0:0.7075:0.2925	rs13447332	165	P32245	MC4R_HUMAN	W	165	ENSP00000299766:R165W	ENSP00000299766:R165W	R	-	1	2	MC4R	56190070	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.610000	0.46325	2.773000	0.95371	0.655000	0.94253	CGG		0.433	MC4R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256139.1	NM_005912		42	15	0	0	0	1	0	42	15					A	58039090	G	A	58039090	3	1	426	1	0	0	0	0	1	0	0	0	9366	1086	38	1	509	1	MC4R	18	58039090	Missense_Mutation	SNP	G	TCGA-XJ-A83F-01A-11D-A34U-08		58039090	20038158	34	20598											
GTPBP3	84705	broad.mit.edu	37	chr19	17452312	17452312	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gggacccgtccacagatcccCcgctgctgacccgagcaagg	8	4	12	17	3	0	2	0	1	0	1	2	4	2	3	5	2	2	3	5	2	1	0			TCGA-XJ-A83F-01A-11D-A34U-08	TCGA-XJ-A83F-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaa16e66-2563-4c7c-8209-3e501185226e	d7ad26f0-ee2d-4a35-9f25-c860af727cbd	g.chr19:17452312C>G	ENST00000324894.8	+	9	1347	c.1279C>G	c.(1279-1281)Ccg>Gcg	p.P427A	GTPBP3_ENST00000361619.5_Missense_Mutation_p.P449A|GTPBP3_ENST00000598038.1_3'UTR|GTPBP3_ENST00000358792.7_Missense_Mutation_p.P459A|GTPBP3_ENST00000600625.1_Missense_Mutation_p.P406A	NM_032620.3|NM_133644.3	NP_116009.2|NP_598399.2	Q969Y2	GTPB3_HUMAN	GTP binding protein 3 (mitochondrial)	427					tRNA modification (GO:0006400)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(7)|skin(2)|upper_aerodigestive_tract(1)	18						CACAGATCCCCCGCTGCTGAC	0.597																																						ENST00000324894.8																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(7)|skin(2)|upper_aerodigestive_tract(1)	18						c.(1279-1281)Ccg>Gcg		GTP binding protein 3 (mitochondrial)							42	47	45					19																	17452312		2202	4296	6498	SO:0001583	missense	84705				tRNA modification	mitochondrion	GTP binding|GTPase activity	g.chr19:17452312C>G	AF360742	CCDS32950.1, CCDS32951.1, CCDS56088.1, CCDS59364.1	19p13.2	2008-02-05				ENSG00000130299			14880	protein-coding gene	gene with protein product		608536				1290633	Standard	NM_001128855		Approved	MSS1, THDF1, GTPBG3, MTGP1, FLJ14700	uc010xpo.2	Q969Y2		ENST00000324894.8:c.1279C>G	19.37:g.17452312C>G	ENSP00000313818:p.Pro427Ala					GTPBP3_ENST00000600625.1_Missense_Mutation_p.P406A|GTPBP3_ENST00000598038.1_3'UTR|GTPBP3_ENST00000361619.5_Missense_Mutation_p.P449A|GTPBP3_ENST00000358792.7_Missense_Mutation_p.P459A	p.P427A	NM_032620.3|NM_133644.3	NP_116009.2|NP_598399.2	Q969Y2	GTPB3_HUMAN			9	1347	+			427					A6NFH1|A6NIG5|A6NKR4|A8K7B4|B7Z4V8|Q8TCY6|Q8WUW9|Q969G4|Q9BX61	Missense_Mutation	SNP	ENST00000324894.8	37	c.1279C>G	CCDS32951.1	.	.	.	.	.	.	.	.	.	.	C	14.25	2.479246	0.44044	.	.	ENSG00000130299	ENST00000361619;ENST00000324894;ENST00000358792	T;T;T	0.28454	1.61;1.61;1.61	5.6	5.6	0.85130	.	0.049576	0.85682	D	0.000000	T	0.45438	0.1342	L	0.37800	1.135	0.80722	D	1	D;D;D;D	0.89917	0.996;0.998;0.994;1.0	D;D;P;D	0.97110	0.948;0.951;0.895;1.0	T	0.10730	-1.0617	10	0.22706	T	0.39	-30.4099	17.0849	0.86609	0.0:1.0:0.0:0.0	.	449;427;406;459	A6NIG5;Q969Y2;Q969Y2-3;Q969Y2-2	.;GTPB3_HUMAN;.;.	A	449;427;459	ENSP00000354598:P449A;ENSP00000313818:P427A;ENSP00000351644:P459A	ENSP00000313818:P427A	P	+	1	0	GTPBP3	17313312	1.000000	0.71417	0.483000	0.27378	0.013000	0.08279	6.896000	0.75665	2.633000	0.89246	0.561000	0.74099	CCG		0.597	GTPBP3-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463624.1	NM_032620		23	66	0	0	0	1	0	23	66					G	17452312	C	G	17452312	3	3	426	1	0	0	0	0	1	0	0	0	6881	623	22	5	1405	5	GTPBP3	19	17452312	Missense_Mutation	SNP	C	TCGA-XJ-A83F-01A-11D-A34U-08		17452312	41676671	35	20599											
ZNF835	90485	broad.mit.edu	37	chr19	57175802	57175802	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gagaagcggaaggccttggcGcacgcggagcactcgtaggg	9	4	18	10	5	0	1	0	0	0	1	1	4	0	3	1	5	2	3	1	5	3	2			TCGA-XJ-A83F-01A-11D-A34U-08	TCGA-XJ-A83F-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaa16e66-2563-4c7c-8209-3e501185226e	d7ad26f0-ee2d-4a35-9f25-c860af727cbd	g.chr19:57175802G>A	ENST00000537055.2	-	2	996	c.765C>T	c.(763-765)tgC>tgT	p.C255C		NM_001005850.2	NP_001005850.2	Q9Y2P0	ZN835_HUMAN	zinc finger protein 835	255					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(22)|pancreas(3)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	47						AGGCCTTGGCGCACGCGGAGC	0.682																																						ENST00000537055.2																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(22)|pancreas(3)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	47						c.(763-765)tgC>tgT		zinc finger protein 835							41	40	41					19																	57175802		2203	4300	6503	SO:0001819	synonymous_variant	90485							g.chr19:57175802G>A	AK023017	CCDS56105.1	19q13.43	2013-01-08			ENSG00000127903	ENSG00000127903		"Zinc fingers, C2H2-type"	34332	protein-coding gene	gene with protein product							Standard	NM_001005850		Approved	BC37295_3	uc010ygn.2	Q9Y2P0		ENST00000537055.2:c.765C>T	19.37:g.57175802G>A							p.C255C	NM_001005850.2	NP_001005850.2					2	996	-								B7Z5Y0|G3V1S0	Silent	SNP	ENST00000537055.2	37	c.765C>T	CCDS56105.1																																																																																				0.682	ZNF835-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459800.1	NM_001005850		22	20	0	0	0	1	0	22	20					A	57175802	G	A	57175802	2	1	426	1	0	0	0	0	0	0	0	1	18183	1079	38	1		1	ZNF835	19	57175802	Silent	SNP	G	TCGA-XJ-A83F-01A-11D-A34U-08	39723490	57175802	1953181	36	20600											
ADAMTS5	11096	broad.mit.edu	37	chr21	28306854	28306854	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attctcccctttccacaaggCgtcccttccaccgcaggcag	7	9	7	18	2	1	0	0	0	1	0	5	0	4	0	6	2	0	2	6	2	1	3	rs199797191		TCGA-XJ-A83F-01A-11D-A34U-08	TCGA-XJ-A83F-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaa16e66-2563-4c7c-8209-3e501185226e	d7ad26f0-ee2d-4a35-9f25-c860af727cbd	g.chr21:28306854C>T	ENST00000284987.5	-	4	1741	c.1620G>A	c.(1618-1620)acG>acA	p.T540T	AP001601.2_ENST00000426771.1_RNA	NM_007038.3	NP_008969.2	Q9UNA0	ATS5_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 5	540	Disintegrin.				defense response to bacterium (GO:0042742)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|proteolysis (GO:0006508)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	72						TTCCACAAGGCGTCCCTTCCA	0.522																																					Esophageal Squamous(53;683 1080 10100 14424 45938)	ENST00000284987.5																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	72						c.(1618-1620)acG>acA		ADAM metallopeptidase with thrombospondin type 1 motif, 5		C		0,4406		0,0,2203	94	86	89		1620	-11.4	0	21		89	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	ADAMTS5	NM_007038.3		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		540/931	28306854	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	11096				proteolysis	proteinaceous extracellular matrix	integrin binding|metalloendopeptidase activity|zinc ion binding	g.chr21:28306854C>T	AF142099	CCDS13579.1	21q21.3	2008-07-31	2008-07-31		ENSG00000154736	ENSG00000154736		"ADAM metallopeptidases with thrombospondin type 1 motif"	221	protein-coding gene	gene with protein product	"aggrecanase-2"	605007	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 5 (aggrecanase-2)"			10438522	Standard	NM_007038		Approved	ADMP-2, ADAMTS11	uc002ymg.3	Q9UNA0	OTTHUMG00000078686	ENST00000284987.5:c.1620G>A	21.37:g.28306854C>T						AP001601.2_ENST00000426771.1_RNA	p.T540T	NM_007038.3	NP_008969.2	Q9UNA0	ATS5_HUMAN			4	1741	-			540			Disintegrin.		Q52LV4|Q9UKP2	Silent	SNP	ENST00000284987.5	37	c.1620G>A	CCDS13579.1																																																																																				0.522	ADAMTS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171648.1			17	59	0	0	0	1	0	17	59					T	28306854	C	T	28306854	2	4	426	1	0	0	0	0	0	0	0	1	269	755	27	1		1	ADAMTS5	21	28306854	Silent	SNP	C	TCGA-XJ-A83F-01A-11D-A34U-08		28306854	19823041	37	20601											
HUNK	30811	broad.mit.edu	37	chr21	33318387	33318387	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cgcagggatcctgggttactCggatccgttcagcacacagt	8	9	12	12	3	1	0	1	0	0	0	4	2	3	2	2	3	2	4	2	3	1	2			TCGA-XJ-A83F-01A-11D-A34U-08	TCGA-XJ-A83F-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaa16e66-2563-4c7c-8209-3e501185226e	d7ad26f0-ee2d-4a35-9f25-c860af727cbd	g.chr21:33318387C>T	ENST00000270112.2	+	4	1010	c.650C>T	c.(649-651)tCg>tTg	p.S217L		NM_014586.1	NP_055401.1	P57058	HUNK_HUMAN	hormonally up-regulated Neu-associated kinase	217	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				multicellular organismal development (GO:0007275)|signal transduction (GO:0007165)		ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|skin(2)|stomach(1)	30						CTGGGTTACTCGGATCCGTTC	0.522																																						ENST00000270112.2																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|skin(2)|stomach(1)	30						c.(649-651)tCg>tTg		hormonally up-regulated Neu-associated kinase							134	122	126					21																	33318387		2203	4300	6503	SO:0001583	missense	30811				multicellular organismal development|signal transduction		ATP binding|protein serine/threonine kinase activity	g.chr21:33318387C>T	AJ271722	CCDS13610.1	21q22.1	2008-06-05	2008-06-05		ENSG00000142149	ENSG00000142149			13326	protein-coding gene	gene with protein product		606532	"hormonally upregulated Neu-associated kinase"			10662544, 10830953	Standard	NM_014586		Approved		uc002yph.3	P57058	OTTHUMG00000085019	ENST00000270112.2:c.650C>T	21.37:g.33318387C>T	ENSP00000270112:p.Ser217Leu						p.S217L	NM_014586.1	NP_055401.1	P57058	HUNK_HUMAN			4	1010	+			217			Protein kinase.			Missense_Mutation	SNP	ENST00000270112.2	37	c.650C>T	CCDS13610.1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.396044	0.83011	.	.	ENSG00000142149	ENST00000270112;ENST00000430354	T;T	0.66815	-0.23;-0.23	5.11	5.11	0.69529	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.212023	0.41823	D	0.000813	T	0.69842	0.3156	L	0.49256	1.55	0.58432	D	0.999997	D	0.61697	0.99	P	0.48840	0.592	T	0.74203	-0.3741	10	0.72032	D	0.01	-13.1947	18.7329	0.91742	0.0:1.0:0.0:0.0	.	217	P57058	HUNK_HUMAN	L	217;102	ENSP00000270112:S217L;ENSP00000411860:S102L	ENSP00000270112:S217L	S	+	2	0	HUNK	32240258	1.000000	0.71417	0.989000	0.46669	0.944000	0.59088	7.235000	0.78143	2.655000	0.90218	0.655000	0.94253	TCG		0.522	HUNK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000192782.1	NM_014586		53	99	0	0	0	1	0	53	99					T	33318387	C	T	33318387	3	4	426	1	0	0	0	0	1	0	0	0	7458	893	31	2	664	2	HUNK	21	33318387	Missense_Mutation	SNP	C	TCGA-XJ-A83F-01A-11D-A34U-08	5011533	33318387	14811508	38	20602											
HIRA	7290	broad.mit.edu	37	chr22	19365430	19365430	+	Frame_Shift_Del	DEL	G	G	-																															tcgcctgcaggtctggcactGgcagccaccacaggctctgt																										TCGA-XJ-A83F-01A-11D-A34U-08	TCGA-XJ-A83F-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaa16e66-2563-4c7c-8209-3e501185226e	d7ad26f0-ee2d-4a35-9f25-c860af727cbd	g.chr22:19365430delG	ENST00000263208.5	-	14	1831	c.1575delC	c.(1573-1575)gccfs	p.A525fs	HIRA_ENST00000541063.1_Frame_Shift_Del_p.A481fs|HIRA_ENST00000546308.1_Frame_Shift_Del_p.A481fs|HIRA_ENST00000340170.4_Frame_Shift_Del_p.A525fs	NM_003325.3	NP_003316.3	P54198	HIRA_HUMAN	histone cell cycle regulator	525	Interaction with CCNA1.				anatomical structure morphogenesis (GO:0009653)|chromatin modification (GO:0016568)|DNA replication-independent nucleosome assembly (GO:0006336)|gastrulation (GO:0007369)|muscle cell differentiation (GO:0042692)|osteoblast differentiation (GO:0001649)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)|prostate(1)|skin(1)	37	Colorectal(54;0.0993)					GTCTGGCACTGGCAGCCACCA	0.547																																						ENST00000263208.5																			0				autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)|prostate(1)|skin(1)	37						c.(1573-1575)gcfs		histone cell cycle regulator							84	93	90					22																	19365430		2203	4300	6503	SO:0001589	frameshift_variant	7290				chromatin modification|regulation of transcription from RNA polymerase II promoter	PML body	chromatin binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr22:19365430delG	X75296	CCDS13759.1	22q11.2	2013-05-03	2013-05-03		ENSG00000100084	ENSG00000100084		"WD repeat domain containing"	4916	protein-coding gene	gene with protein product	"DiGeorge critical region gene 1"	600237	"HIR (histone cell cycle regulation defective) homolog A (S. cerevisiae)", "HIR histone cell cycle regulation defective homolog A (S. cerevisiae)"	TUPLE1		8111380, 7633437, 9731536	Standard	NM_003325		Approved	DGCR1, TUP1	uc002zpf.1	P54198	OTTHUMG00000150134	ENST00000263208.5:c.1575delC	22.37:g.19365430delG	ENSP00000263208:p.Ala525fs					HIRA_ENST00000340170.4_Frame_Shift_Del_p.A525fs|HIRA_ENST00000541063.1_Frame_Shift_Del_p.A481fs|HIRA_ENST00000546308.1_Frame_Shift_Del_p.A481fs	p.A525fs	NM_003325.3	NP_003316.3	P54198	HIRA_HUMAN			14	1831	-	Colorectal(54;0.0993)		525			Interaction with CCNA1.		Q05BU9|Q8IXN2	Frame_Shift_Del	DEL	ENST00000263208.5	37	c.1575delC	CCDS13759.1																																																																																				0.547	HIRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316488.2	NM_003325		53	97						53	97	---	---	---	---	-	19365430	G	-	19365430	7	5	426	1	0	1	0	1	0	0	0	0	7120	1335	47	0	1526	0	HIRA	22	19365430	Frame_Shift_Del	DEL	G	TCGA-XJ-A83F-01A-11D-A34U-08		19365430	31939136	39	20603											
KLHL15	80311	broad.mit.edu	37	chrX	24006924	24006924	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gaggtacttgtgggccttctAgctcccaccagactcttggt	6	12	11	12	0	2	1	0	0	2	1	3	2	3	1	3	3	2	2	3	3	2	5			TCGA-XJ-A83F-01A-11D-A34U-08	TCGA-XJ-A83F-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaa16e66-2563-4c7c-8209-3e501185226e	d7ad26f0-ee2d-4a35-9f25-c860af727cbd	g.chrX:24006924A>G	ENST00000328046.8	-	4	1184	c.929T>C	c.(928-930)cTa>cCa	p.L310P		NM_030624.2	NP_085127.2	Q96M94	KLH15_HUMAN	kelch-like family member 15	310					protein ubiquitination (GO:0016567)					autonomic_ganglia(1)|breast(1)|endometrium(8)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)	22						TGGGCCTTCTAGCTCCCACCA	0.463																																						ENST00000328046.8																			0				autonomic_ganglia(1)|breast(1)|endometrium(8)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)	22						c.(928-930)cTa>cCa		kelch-like family member 15							96	86	90					X																	24006924		2203	4300	6503	SO:0001583	missense	80311							g.chrX:24006924A>G	AB051464	CCDS35217.1	Xp22.1-p21	2013-01-30	2013-01-30		ENSG00000174010	ENSG00000174010		"Kelch-like", "BTB/POZ domain containing"	29347	protein-coding gene	gene with protein product			"kelch-like 15 (Drosophila)"			11214970, 14702039	Standard	NM_030624		Approved	KIAA1677	uc004dba.4	Q96M94	OTTHUMG00000021261	ENST00000328046.8:c.929T>C	X.37:g.24006924A>G	ENSP00000332791:p.Leu310Pro						p.L310P	NM_030624.2	NP_085127.2	Q96M94	KLH15_HUMAN			4	1184	-			310					Q32MN3|Q8NDA3|Q96BM6|Q9C0I6	Missense_Mutation	SNP	ENST00000328046.8	37	c.929T>C	CCDS35217.1	.	.	.	.	.	.	.	.	.	.	A	10.56	1.384213	0.25031	.	.	ENSG00000174010	ENST00000328046	T	0.71934	-0.61	5.48	5.48	0.80851	Kelch-type beta propeller (1);	0.069777	0.64402	D	0.000013	T	0.65913	0.2737	N	0.19112	0.55	0.80722	D	1	D	0.57257	0.979	P	0.50490	0.642	T	0.71619	-0.4538	10	0.72032	D	0.01	.	14.8113	0.69996	1.0:0.0:0.0:0.0	.	310	Q96M94	KLH15_HUMAN	P	310	ENSP00000332791:L310P	ENSP00000332791:L310P	L	-	2	0	KLHL15	23916845	1.000000	0.71417	0.808000	0.32385	0.072000	0.16883	8.910000	0.92685	1.947000	0.56498	0.425000	0.28330	CTA		0.463	KLHL15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056078.1	XM_040383		3	55	0	0	0	1	0	3	55					G	24006924	A	G	24006924	3	3	426	1	0	0	0	0	1	0	0	0	8371	420	15	4	889	4	KLHL15	23	24006924	Missense_Mutation	SNP	A	TCGA-XJ-A83F-01A-11D-A34U-08		24006924	131263636	40	20604											
CXorf1	9142	broad.mit.edu	37	chrX	144909435	144909435	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttcacatgcagctttaagacGtatgagcatcagcacagcaa	14	9	8	10	1	2	2	2	1	0	1	2	2	2	2	0	0	5	6	0	0	3	4			TCGA-XJ-A83F-01A-11D-A34U-08	TCGA-XJ-A83F-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaa16e66-2563-4c7c-8209-3e501185226e	d7ad26f0-ee2d-4a35-9f25-c860af727cbd	g.chrX:144909435G>A	ENST00000408967.2	+	1	508	c.240G>A	c.(238-240)acG>acA	p.T80T		NM_004709.2	NP_004700.1	O96002	TM257_HUMAN	transmembrane protein 257	80						integral component of membrane (GO:0016021)		p.T80T(1)									GCTTTAAGACGTATGAGCATC	0.398																																						ENST00000408967.2																			1	Substitution - coding silent(1)	p.T80T(1)	kidney(1)								c.(238-240)acG>acA		transmembrane protein 257							78	71	73					X																	144909435		2203	4300	6503	SO:0001819	synonymous_variant	9142							g.chrX:144909435G>A	Y08902	CCDS14681.1	Xq27.3	2012-12-03	2012-12-03	2012-12-03	ENSG00000221870	ENSG00000221870			2562	protein-coding gene	gene with protein product		300565	"chromosome X open reading frame 1"	CXorf1		9881668	Standard	NM_004709		Approved		uc004fch.3	O96002	OTTHUMG00000159605	ENST00000408967.2:c.240G>A	X.37:g.144909435G>A							p.T80T	NM_004709.2	NP_004700.1					1	508	+								Q14CW0	Silent	SNP	ENST00000408967.2	37	c.240G>A	CCDS14681.1																																																																																				0.398	TMEM257-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356465.1	NM_004709		3	32	0	0	0	1	0	3	32					A	144909435	G	A	144909435	2	1	426	1	0	0	0	0	0	0	0	1	4100	1132	40	1		1	CXorf1	23	144909435	Silent	SNP	G	TCGA-XJ-A83F-01A-11D-A34U-08	120902511	144909435	10361125	41	20605											
KIAA0495	57212	broad.mit.edu	37	chr1	3662338	3662338	+	RNA	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcagcagtgccgggctccCgaagcccaccccaaagatgc	9	4	11	17	2	0	1	0	0	0	1	1	2	1	1	5	1	5	3	5	1	2	0	rs562084723|rs74910456		TCGA-XJ-A83G-01A-11D-A34U-08	TCGA-XJ-A83G-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8130ce33-1338-4bc9-b812-7060168d762a	4c90ef8d-c640-4c67-bafa-12fb155781aa	g.chr1:3662338C>T	ENST00000452079.1	-	0	1548				TP73-AS1_ENST00000608600.1_RNA|TP73-AS1_ENST00000544565.1_RNA|TP73-AS1_ENST00000587071.1_RNA|TP73-AS1_ENST00000418088.1_RNA|TP73-AS1_ENST00000423764.1_RNA	NR_033711.1		Q9UF72	T73AS_HUMAN	TP73 antisense RNA 1							extracellular region (GO:0005576)											GCCGGGCTCCCGAAGCCCACC	0.642													C|||	1	0.000199681	8e-04	0	5008	,	,		17924	0		0	False		,,,				2504	0					ENST00000452079.1																			0																				52	56	55					1																	3662338		2114	4226	6340			0							g.chr1:3662338C>T			1p36.32	2014-01-20	2014-01-20	2014-01-20	ENSG00000227372	ENSG00000227372		"Long non-coding RNAs"	29052	non-coding RNA	RNA, long non-coding	"p53-dependent apoptosis modulator"		"KIAA0495"	KIAA0495		9455484, 20477830, 23726844	Standard	NR_033708		Approved	PDAM	uc009vlm.3	Q9UF72	OTTHUMG00000003414		1.37:g.3662338C>T						TP73-AS1_ENST00000544565.1_RNA|TP73-AS1_ENST00000423764.1_RNA|TP73-AS1_ENST00000418088.1_RNA		NR_033711.1						0	1548	-									RNA	SNP	ENST00000452079.1	37																																																																																						0.642	TP73-AS1-003	KNOWN	basic	antisense	antisense	OTTHUMT00000009558.1	NR_033708		3	20	0	0	0	1	0	3	20					T	3662338	C	T	3662338	1	4	427	0	1	0	0	0	0	0	0	0	8180	652	23	2		2	KIAA0495	1	3662338	RNA	SNP	C	TCGA-XJ-A83G-01A-11D-A34U-08		3662338	245588283	1	20606											
C1QC	714	broad.mit.edu	37	chr1	22974075	22974075	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcgcatacagccaacctgtgCgtgctgctgtaccgcagcgg	7	8	12	14	4	0	0	0	0	0	0	1	0	0	0	3	1	8	5	3	1	3	2	rs150732699		TCGA-XJ-A83G-01A-11D-A34U-08	TCGA-XJ-A83G-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8130ce33-1338-4bc9-b812-7060168d762a	4c90ef8d-c640-4c67-bafa-12fb155781aa	g.chr1:22974075C>T	ENST00000374639.3	+	3	655	c.537C>T	c.(535-537)tgC>tgT	p.C179C	C1QC_ENST00000374640.4_Silent_p.C179C|C1QC_ENST00000374637.1_Silent_p.C179C	NM_001114101.1	NP_001107573.1	P02747	C1QC_HUMAN	complement component 1, q subcomponent, C chain	179	C1q. {ECO:0000255|PROSITE- ProRule:PRU00368}.				complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|immune response (GO:0006955)|innate immune response (GO:0045087)|negative regulation of granulocyte differentiation (GO:0030853)|negative regulation of macrophage differentiation (GO:0045650)	blood microparticle (GO:0072562)|collagen trimer (GO:0005581)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	15		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;6.21e-27)|Colorectal(126;1.5e-07)|COAD - Colon adenocarcinoma(152;1.12e-05)|GBM - Glioblastoma multiforme(114;1.61e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000538)|KIRC - Kidney renal clear cell carcinoma(1967;0.00269)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.196)	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	CCAACCTGTGCGTGCTGCTGT	0.582																																					Ovarian(26;671 750 8290 29071 43278)	ENST00000374639.3																			0				endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	15						c.(535-537)tgC>tgT		complement component 1, q subcomponent, C chain	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	C	,	2,4404	4.2+/-10.8	0,2,2201	106	94	98		537,537	4.6	1	1	dbSNP_134	98	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	C1QC	NM_001114101.1,NM_172369.3	,	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	,	179/246,179/246	22974075	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	714				complement activation, classical pathway|innate immune response|negative regulation of granulocyte differentiation|negative regulation of macrophage differentiation	collagen		g.chr1:22974075C>T	AK057792	CCDS227.1	1p36.11	2014-09-17	2006-02-09	2006-02-09	ENSG00000159189	ENSG00000159189		"Complement system"	1245	protein-coding gene	gene with protein product		120575	"complement component 1, q subcomponent, gamma polypeptide"	C1QG		1706597	Standard	NM_001114101		Approved		uc001bga.4	P02747	OTTHUMG00000002891	ENST00000374639.3:c.537C>T	1.37:g.22974075C>T						C1QC_ENST00000374637.1_Silent_p.C179C|C1QC_ENST00000374640.4_Silent_p.C179C	p.C179C	NM_001114101.1	NP_001107573.1	P02747	C1QC_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;6.21e-27)|Colorectal(126;1.5e-07)|COAD - Colon adenocarcinoma(152;1.12e-05)|GBM - Glioblastoma multiforme(114;1.61e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000538)|KIRC - Kidney renal clear cell carcinoma(1967;0.00269)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.196)	3	655	+		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)	179			C1q.		Q7Z502|Q96DL2|Q96H05	Silent	SNP	ENST00000374639.3	37	c.537C>T	CCDS227.1																																																																																				0.582	C1QC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008083.1	NM_172369		9	54	0	0	0	1	0	9	54					T	22974075	C	T	22974075	2	4	427	1	0	0	0	0	0	0	0	1	1957	776	27	1		1	C1QC	1	22974075	Silent	SNP	C	TCGA-XJ-A83G-01A-11D-A34U-08	19311737	22974075	226276546	2	20607											
PHACTR4	65979	broad.mit.edu	37	chr1	28764899	28764899	+	Intron	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	catcagacaatataatcatgGgacaagctgatgtctccaga	15	9	8	9	0	3	3	2	1	1	2	4	4	3	4	1	1	1	1	1	1	4	2			TCGA-XJ-A83G-01A-11D-A34U-08	TCGA-XJ-A83G-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8130ce33-1338-4bc9-b812-7060168d762a	4c90ef8d-c640-4c67-bafa-12fb155781aa	g.chr1:28764899G>T	ENST00000373839.3	+	3	277				PHACTR4_ENST00000373836.3_Nonsense_Mutation_p.G2*|PHACTR4_ENST00000493669.1_Intron	NM_001048183.1	NP_001041648.1	Q8IZ21	PHAR4_HUMAN	phosphatase and actin regulator 4						actin cytoskeleton organization (GO:0030036)|closure of optic fissure (GO:0061386)|enteric nervous system development (GO:0048484)|negative regulation of integrin-mediated signaling pathway (GO:2001045)|neural crest cell migration (GO:0001755)|neural tube closure (GO:0001843)|positive regulation of catalytic activity (GO:0043085)|regulation of cell cycle (GO:0051726)|Rho protein signal transduction (GO:0007266)	cytoplasm (GO:0005737)|lamellipodium (GO:0030027)	actin binding (GO:0003779)|protein phosphatase 1 binding (GO:0008157)|protein phosphatase type 1 activator activity (GO:0071862)			NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	32		Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;7.01e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)		OV - Ovarian serous cystadenocarcinoma(117;1.35e-21)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0144)|READ - Rectum adenocarcinoma(331;0.0649)		TATAATCATGGGACAAGCTGA	0.413																																						ENST00000373836.3																			0				NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	32						c.(4-6)Gga>Tga		phosphatase and actin regulator 4							107	98	101					1																	28764899		1872	4103	5975	SO:0001627	intron_variant	65979						actin binding|protein phosphatase inhibitor activity	g.chr1:28764899G>T	AF130081	CCDS41293.1, CCDS41294.1	1p35.2	2014-06-13			ENSG00000204138	ENSG00000204138		"Phosphatase and actin regulators"	25793	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 124"	608726				11483580, 15107502	Standard	NM_023923		Approved	FLJ13171, PPP1R124	uc001bpy.3	Q8IZ21	OTTHUMG00000003541	ENST00000373839.3:c.17-20697G>T	1.37:g.28764899G>T						PHACTR4_ENST00000373839.3_Intron|PHACTR4_ENST00000493669.1_Intron	p.G2*	NM_023923.3	NP_076412.3	Q8IZ21	PHAR4_HUMAN		OV - Ovarian serous cystadenocarcinoma(117;1.35e-21)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0144)|READ - Rectum adenocarcinoma(331;0.0649)	1	218	+		Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;7.01e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)	0					A2APK6|B9ZVW0|D3DPM3|Q68DD4|Q6NUN6|Q8N384|Q9H395|Q9H6X0|Q9H8W6	Nonsense_Mutation	SNP	ENST00000373839.3	37	c.4G>T	CCDS41293.1	.	.	.	.	.	.	.	.	.	.	G	39	7.361380	0.98235	.	.	ENSG00000204138	ENST00000373836	.	.	.	5.41	5.41	0.78517	.	0.000000	0.42420	D	0.000718	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	15.9137	0.79491	0.0:0.0:1.0:0.0	.	.	.	.	X	2	.	ENSP00000362942:G2X	G	+	1	0	PHACTR4	28637486	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	4.067000	0.57527	2.533000	0.85409	0.563000	0.77884	GGA		0.413	PHACTR4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000009868.4	NM_023923		8	27	1	0	0.000274275	1	0.000280111	8	27					T	28764899	G	T	28764899	1	4	427	0	1	0	0	0	0	0	0	0	11812	1233	43	5		5	PHACTR4	1	28764899	Intron	SNP	G	TCGA-XJ-A83G-01A-11D-A34U-08	5790824	28764899	220485722	3	20608											
BTBD8	284697	broad.mit.edu	37	chr1	92595245	92595245	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tcccccctcttccctttaggGccattttgagtgccagatct	5	14	7	15	0	2	2	0	1	2	1	4	2	4	2	6	1	1	0	6	1	1	5			TCGA-XJ-A83G-01A-11D-A34U-08	TCGA-XJ-A83G-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8130ce33-1338-4bc9-b812-7060168d762a	4c90ef8d-c640-4c67-bafa-12fb155781aa	g.chr1:92595245G>A	ENST00000342818.3	+	5	900	c.664G>A	c.(664-666)Gcc>Acc	p.A222T	BTBD8_ENST00000370382.3_Splice_Site_p.A222T|BTBD8_ENST00000540648.1_Splice_Site_p.A222T	NM_183242.3	NP_899065.2	Q5XKL5	BTBD8_HUMAN	BTB (POZ) domain containing 8	222	BTB 2. {ECO:0000255|PROSITE- ProRule:PRU00037}.					nucleus (GO:0005634)				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(8)|ovary(1)	16		all_lung(203;0.0484)|Lung NSC(277;0.126)|Glioma(108;0.222)		all cancers(265;0.0153)|Epithelial(280;0.0982)		TCCCTTTAGGGCCATTTTGAG	0.358																																						ENST00000370382.3																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(8)|ovary(1)	16						c.e5-1		BTB (POZ) domain containing 8							129	114	119					1																	92595245		2203	4300	6503	SO:0001630	splice_region_variant	284697					nucleus		g.chr1:92595245G>A	AY346333	CCDS737.1	1p22.1	2013-01-08			ENSG00000189195	ENSG00000189195		"BTB/POZ domain containing"	21019	protein-coding gene	gene with protein product						14654994	Standard	NM_183242		Approved		uc001doo.3	Q5XKL5	OTTHUMG00000010289	ENST00000342818.3:c.663-1G>A	1.37:g.92595245G>A						BTBD8_ENST00000342818.3_Splice_Site_p.A222_splice|BTBD8_ENST00000540648.1_Splice_Site_p.A222_splice	p.A222_splice			Q5XKL5	BTBD8_HUMAN		all cancers(265;0.0153)|Epithelial(280;0.0982)	5	931	+		all_lung(203;0.0484)|Lung NSC(277;0.126)|Glioma(108;0.222)	222			BTB 2.		Q6V9S5	Splice_Site	SNP	ENST00000342818.3	37	c.662_splice	CCDS737.1	.	.	.	.	.	.	.	.	.	.	G	27.5	4.835397	0.91117	.	.	ENSG00000189195	ENST00000370382;ENST00000342818;ENST00000540648	T;T;T	0.70516	-0.49;-0.49;-0.49	5.85	5.85	0.93711	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.000000	0.64402	D	0.000020	T	0.82098	0.4963	M	0.80332	2.49	0.44188	D	0.997001	D	0.89917	1.0	D	0.81914	0.995	T	0.79992	-0.1569	10	0.37606	T	0.19	-4.8108	17.9307	0.88996	0.0:0.0:1.0:0.0	.	222	Q5XKL5	BTBD8_HUMAN	T	222	ENSP00000359408:A222T;ENSP00000343686:A222T;ENSP00000443397:A222T	ENSP00000343686:A222T	A	+	1	0	BTBD8	92367833	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	6.699000	0.74613	2.773000	0.95371	0.650000	0.86243	GCC		0.358	BTBD8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028372.1	NM_183242	Missense_Mutation	3	30	0	0	0	1	0	3	30					A	92595245	G	A	92595245	5	1	427	1	0	0	0	0	0	0	1	0	1547	1217	42	3	682	3	BTBD8	1	92595245	Splice_Site	SNP	G	TCGA-XJ-A83G-01A-11D-A34U-08	63830346	92595245	156655376	4	20609											
FLG2	388698	broad.mit.edu	37	chr1	152324525	152324525	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgtctcttgtgaactgtggAttctgactctccatgttgag	6	16	11	8	0	3	3	0	3	3	0	5	4	3	4	1	1	1	1	1	1	1	3			TCGA-XJ-A83G-01A-11D-A34U-08	TCGA-XJ-A83G-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8130ce33-1338-4bc9-b812-7060168d762a	4c90ef8d-c640-4c67-bafa-12fb155781aa	g.chr1:152324525A>C	ENST00000388718.5	-	3	5809	c.5737T>G	c.(5737-5739)Tcc>Gcc	p.S1913A	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	1913					establishment of skin barrier (GO:0061436)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGAACTGTGGATTCTGACTCT	0.512																																						ENST00000388718.5																			0				NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188						c.(5737-5739)Tcc>Gcc		filaggrin family member 2							368	330	343					1																	152324525		2203	4300	6503	SO:0001583	missense	388698						calcium ion binding|structural molecule activity	g.chr1:152324525A>C	AY827490	CCDS30861.1	1q21.3	2013-01-10			ENSG00000143520	ENSG00000143520		"EF-hand domain containing"	33276	protein-coding gene	gene with protein product						12477932	Standard	NM_001014342		Approved	IFPS	uc001ezw.4	Q5D862	OTTHUMG00000012245	ENST00000388718.5:c.5737T>G	1.37:g.152324525A>C	ENSP00000373370:p.Ser1913Ala					FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	p.S1913A	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	5809	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1913					Q9H4U1	Missense_Mutation	SNP	ENST00000388718.5	37	c.5737T>G	CCDS30861.1	.	.	.	.	.	.	.	.	.	.	A	9.978	1.227392	0.22542	.	.	ENSG00000143520	ENST00000388718	T	0.07444	3.19	3.6	2.42	0.29668	.	.	.	.	.	T	0.02688	0.0081	L	0.61218	1.895	0.09310	N	1	B	0.25235	0.121	B	0.27715	0.082	T	0.46373	-0.9196	9	0.13108	T	0.6	0.6413	6.9317	0.24445	0.7635:0.2365:0.0:0.0	.	1913	Q5D862	FILA2_HUMAN	A	1913	ENSP00000373370:S1913A	ENSP00000373370:S1913A	S	-	1	0	FLG2	150591149	0.003000	0.15002	0.023000	0.16930	0.106000	0.19336	0.257000	0.18369	0.561000	0.29186	0.449000	0.29647	TCC		0.512	FLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034018.5	NM_001014342		4	249	0	0	0	1	0	4	249					C	152324525	A	C	152324525	3	2	427	1	0	0	0	0	1	0	0	0	5923	333	12	5	1442	5	FLG2	1	152324525	Missense_Mutation	SNP	A	TCGA-XJ-A83G-01A-11D-A34U-08	59729280	152324525	96926096	5	20610											
PTPRC	5788	broad.mit.edu	37	chr1	198711392	198711392	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggcgcacaggaacctatatcGgaattgatgccatgctagaa	13	8	11	9	2	0	2	0	1	0	1	1	4	0	4	2	3	3	2	2	3	6	4			TCGA-XJ-A83G-01A-11D-A34U-08	TCGA-XJ-A83G-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8130ce33-1338-4bc9-b812-7060168d762a	4c90ef8d-c640-4c67-bafa-12fb155781aa	g.chr1:198711392G>A	ENST00000367376.2	+	25	2758	c.2587G>A	c.(2587-2589)Gga>Aga	p.G863R	PTPRC_ENST00000348564.6_Missense_Mutation_p.G704R|PTPRC_ENST00000594404.1_Missense_Mutation_p.G702R|PTPRC_ENST00000442510.2_Missense_Mutation_p.G865R|PTPRC_ENST00000352140.3_Missense_Mutation_p.G815R	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	863	Tyrosine-protein phosphatase 1. {ECO:0000255|PROSITE-ProRule:PRU00160}.		G -> R (in a breast cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		axon guidance (GO:0007411)|B cell proliferation (GO:0042100)|B cell receptor signaling pathway (GO:0050853)|bone marrow development (GO:0048539)|cell cycle phase transition (GO:0044770)|cell surface receptor signaling pathway (GO:0007166)|defense response to virus (GO:0051607)|dephosphorylation (GO:0016311)|hematopoietic progenitor cell differentiation (GO:0002244)|immunoglobulin biosynthetic process (GO:0002378)|negative regulation of cell adhesion involved in substrate-bound cell migration (GO:0006933)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of T cell mediated cytotoxicity (GO:0001915)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of antigen receptor-mediated signaling pathway (GO:0050857)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of hematopoietic stem cell migration (GO:2000473)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of stem cell proliferation (GO:2000648)|positive regulation of T cell proliferation (GO:0042102)|protein dephosphorylation (GO:0006470)|regulation of cell cycle (GO:0051726)|release of sequestered calcium ion into cytosol (GO:0051209)|stem cell development (GO:0048864)|T cell differentiation (GO:0030217)|T cell receptor signaling pathway (GO:0050852)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.G863R(1)		breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						AACCTATATCGGAATTGATGC	0.463																																						ENST00000367376.2																			1	Substitution - Missense(1)	p.G863R(1)	breast(1)	breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						c.(2587-2589)Gga>Aga		protein tyrosine phosphatase, receptor type, C							224	204	210					1																	198711392		2203	4300	6503	SO:0001583	missense	5788				axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway	focal adhesion|integral to plasma membrane|membrane raft	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr1:198711392G>A	Y00062	CCDS1397.1, CCDS1398.1, CCDS44291.1, CCDS1397.2, CCDS1398.2, CCDS44291.2	1q31-q32	2014-09-17			ENSG00000081237	ENSG00000081237		"CD molecules", "Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Fibronectin type III domain containing"	9666	protein-coding gene	gene with protein product		151460		CD45		2169617	Standard	NM_001267798		Approved	LCA, T200, GP180	uc001gur.2	P08575	OTTHUMG00000035702	ENST00000367376.2:c.2587G>A	1.37:g.198711392G>A	ENSP00000356346:p.Gly863Arg					PTPRC_ENST00000348564.6_Missense_Mutation_p.G704R|PTPRC_ENST00000594404.1_Missense_Mutation_p.G702R|PTPRC_ENST00000442510.2_Missense_Mutation_p.G865R|PTPRC_ENST00000352140.3_Missense_Mutation_p.G815R	p.G863R	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN			25	2758	+			863		G -> R (in a breast cancer sample; somatic mutation).	Tyrosine-protein phosphatase 1.		A8K7W6|Q16614|Q9H0Y6	Missense_Mutation	SNP	ENST00000367376.2	37	c.2587G>A		.	.	.	.	.	.	.	.	.	.	G	26.0	4.698373	0.88830	.	.	ENSG00000081237	ENST00000367376;ENST00000352140;ENST00000442510;ENST00000348564	T	0.11604	2.76	6.06	6.06	0.98353	Protein-tyrosine phosphatase, receptor/non-receptor type (4);Protein-tyrosine/Dual-specificity phosphatase (1);	0.000000	0.49305	D	0.000156	T	0.35098	0.0920	M	0.81802	2.56	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;0.999;1.0	T	0.02070	-1.1219	10	0.56958	D	0.05	.	13.774	0.63041	0.0696:0.0:0.9304:0.0	.	704;815;863	B1ALS3;E9PC28;P08575	.;.;PTPRC_HUMAN	R	865;815;863;702	ENSP00000193532:G815R	ENSP00000306782:G702R	G	+	1	0	PTPRC	196978015	1.000000	0.71417	0.939000	0.37840	0.767000	0.43475	6.715000	0.74697	2.879000	0.98667	0.650000	0.86243	GGA		0.463	PTPRC-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding				18	85	0	0	0	1	0	18	85					A	198711392	G	A	198711392	3	1	427	1	0	0	0	0	1	0	0	0	12797	1117	39	2	2692	2	PTPRC	1	198711392	Missense_Mutation	SNP	G	TCGA-XJ-A83G-01A-11D-A34U-08	46386867	198711392	50539229	6	20611											
VPS24	51652	broad.mit.edu	37	chr2	86790451	86790451	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tctttgggcggcttctcctgGgtctttccaaacagccccat	5	13	9	14	1	3	0	0	0	3	0	5	0	4	0	4	3	2	1	4	3	1	3			TCGA-XJ-A83G-01A-11D-A34U-08	TCGA-XJ-A83G-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8130ce33-1338-4bc9-b812-7060168d762a	4c90ef8d-c640-4c67-bafa-12fb155781aa	g.chr2:86790451G>C	ENST00000263856.4	-	1	149	c.21C>G	c.(19-21)acC>acG	p.T7T	CHMP3_ENST00000439940.2_Intron|RNF103-CHMP3_ENST00000604011.1_Intron|CHMP3_ENST00000409225.2_5'UTR|AC015971.2_ENST00000439077.1_RNA|AC015971.2_ENST00000597638.1_RNA|CHMP3_ENST00000409727.1_Silent_p.T7T	NM_001193517.1|NM_016079.3	NP_001180446.1|NP_057163.1	Q9Y3E7	CHMP3_HUMAN	charged multivesicular body protein 3	7	Intramolecular interaction with C- terminus.				apoptotic process (GO:0006915)|cell cycle (GO:0007049)|cell division (GO:0051301)|endosomal transport (GO:0016197)|membrane organization (GO:0061024)|positive regulation of viral release from host cell (GO:1902188)|protein transport (GO:0015031)|regulation of viral process (GO:0050792)|viral life cycle (GO:0019058)|viral process (GO:0016032)	cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)											GCTTCTCCTGGGTCTTTCCAA	0.622																																						ENST00000263856.4																			0											c.(19-21)acC>acG		charged multivesicular body protein 3							123	127	126					2																	86790451		2203	4300	6503	SO:0001819	synonymous_variant	51652							g.chr2:86790451G>C	AF219226	CCDS33236.1, CCDS42707.1, CCDS54375.1	2p11.2	2011-09-21	2011-09-21	2011-09-21	ENSG00000115561	ENSG00000115561		"Charged multivesicular body proteins"	29865	protein-coding gene	gene with protein product		610052	"vacuolar protein sorting 24 (yeast)", "vacuolar protein sorting 24 homolog (S. cerevisiae)"	VPS24		11549700, 12878588	Standard	NM_016079		Approved	NEDF, CGI-149		Q9Y3E7	OTTHUMG00000153189	ENST00000263856.4:c.21C>G	2.37:g.86790451G>C						RNF103-CHMP3_ENST00000604011.1_Intron|CHMP3_ENST00000439940.2_Intron|AC015971.2_ENST00000439077.1_RNA|CHMP3_ENST00000409727.1_Silent_p.T7T|AC015971.2_ENST00000597638.1_RNA|CHMP3_ENST00000409225.2_5'UTR	p.T7T	NM_001193517.1|NM_016079.3	NP_001180446.1|NP_057163.1					1	149	-								A8K3W0|B4DG34|B8ZZM0|B8ZZX5|Q3ZTS9|Q53S71|Q53SU5|Q9NZ51	Silent	SNP	ENST00000263856.4	37	c.21C>G	CCDS33236.1																																																																																				0.622	CHMP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330015.2	NM_016079		5	128	0	0	0	1	0	5	128					C	86790451	G	C	86790451	2	2	427	1	0	0	0	0	0	0	0	1	17192	1219	43	5		5	VPS24	2	86790451	Silent	SNP	G	TCGA-XJ-A83G-01A-11D-A34U-08		86790451	156408922	7	20612											
SLC6A6	6533	broad.mit.edu	37	chr3	14489110	14489110	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtatcggctatgcctccgttGtaattgtgtccctcctgaat	6	15	9	11	2	0	1	0	1	0	0	4	1	3	1	4	1	1	4	4	1	4	5			TCGA-XJ-A83G-01A-11D-A34U-08	TCGA-XJ-A83G-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8130ce33-1338-4bc9-b812-7060168d762a	4c90ef8d-c640-4c67-bafa-12fb155781aa	g.chr3:14489110G>A	ENST00000454876.2	+	5	714	c.385G>A	c.(385-387)Gta>Ata	p.V129I	SLC6A6_ENST00000416216.2_Missense_Mutation_p.V129I|SLC6A6_ENST00000360861.3_Missense_Mutation_p.V129I|SLC6A6_ENST00000484191.1_3'UTR			P31641	SC6A6_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 6	129					amino acid transport (GO:0006865)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|taurine transport (GO:0015734)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neurotransmitter:sodium symporter activity (GO:0005328)|taurine binding (GO:0030977)|taurine:sodium symporter activity (GO:0005369)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(2)	28						TGCCTCCGTTGTAATTGTGTC	0.547																																						ENST00000454876.2																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(2)	28						c.(385-387)Gta>Ata		solute carrier family 6 (neurotransmitter transporter), member 6							414	395	401					3																	14489110		2203	4300	6503	SO:0001583	missense	6533				cellular amino acid metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity|taurine:sodium symporter activity	g.chr3:14489110G>A		CCDS33705.1, CCDS46765.1	3p25.1	2013-07-19	2013-07-19		ENSG00000131389	ENSG00000131389		"Solute carriers"	11052	protein-coding gene	gene with protein product	"taurine transporter"	186854	"solute carrier family 6 (neurotransmitter transporter, taurine), member 6"			8010975, 8382624	Standard	XM_006713307		Approved	TAUT	uc010heg.4	P31641	OTTHUMG00000155525	ENST00000454876.2:c.385G>A	3.37:g.14489110G>A	ENSP00000398063:p.Val129Ile					SLC6A6_ENST00000416216.2_Missense_Mutation_p.V129I|SLC6A6_ENST00000360861.3_Missense_Mutation_p.V129I|SLC6A6_ENST00000484191.1_3'UTR	p.V129I			P31641	SC6A6_HUMAN			5	714	+			129					B2RNU7|Q9BRI2|Q9BXB0	Missense_Mutation	SNP	ENST00000454876.2	37	c.385G>A	CCDS33705.1	.	.	.	.	.	.	.	.	.	.	G	12.76	2.034437	0.35893	.	.	ENSG00000131389	ENST00000454876;ENST00000360861;ENST00000416216	T;T;T	0.75367	-0.93;-0.93;-0.93	5.05	5.05	0.67936	.	0.000000	0.85682	D	0.000000	T	0.66208	0.2766	L	0.31664	0.95	0.80722	D	1	B	0.15473	0.013	B	0.20955	0.032	T	0.60525	-0.7246	10	0.30854	T	0.27	.	18.4286	0.90617	0.0:0.0:1.0:0.0	.	129	P31641	SC6A6_HUMAN	I	129	ENSP00000398063:V129I;ENSP00000354107:V129I;ENSP00000401167:V129I	ENSP00000354107:V129I	V	+	1	0	SLC6A6	14464114	1.000000	0.71417	0.997000	0.53966	0.163000	0.22366	9.612000	0.98347	2.355000	0.79922	0.536000	0.68110	GTA		0.547	SLC6A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340507.1	NM_003043		11	431	0	0	0	1	0	11	431					A	14489110	G	A	14489110	3	1	427	1	0	0	0	0	1	0	0	0	14688	1377	48	3	395	3	SLC6A6	3	14489110	Missense_Mutation	SNP	G	TCGA-XJ-A83G-01A-11D-A34U-08		14489110	183533320	8	20613											
MINA	84864	broad.mit.edu	37	chr3	97668717	97668717	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acagctctgccccatctcccGcagagtaaggggggagtctg	8	7	13	13	1	3	1	0	0	3	1	4	2	3	2	3	3	2	3	3	3	1	1	rs149644546		TCGA-XJ-A83G-01A-11D-A34U-08	TCGA-XJ-A83G-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8130ce33-1338-4bc9-b812-7060168d762a	4c90ef8d-c640-4c67-bafa-12fb155781aa	g.chr3:97668717G>A	ENST00000333396.7	-	7	1613	c.1031C>T	c.(1030-1032)gCg>gTg	p.A344V	MINA_ENST00000360258.4_Missense_Mutation_p.A343V|MINA_ENST00000394198.2_Missense_Mutation_p.A344V	NM_001042533.2|NM_032778.5	NP_001035998.1|NP_116167.3			MYC induced nuclear antigen											breast(2)|endometrium(1)|large_intestine(1)|lung(8)|ovary(1)	13						CCCATCTCCCGCAGAGTAAGG	0.517																																						ENST00000333396.6																			0				breast(2)|endometrium(1)|large_intestine(1)|lung(8)|ovary(1)	13						c.(1030-1032)gCg>gTg		MYC induced nuclear antigen		G	VAL/ALA,VAL/ALA,VAL/ALA	1,4405	2.1+/-5.4	0,1,2202	66	66	66		1031,1028,1031	-6.4	0	3	dbSNP_134	66	0,8600		0,0,4300	no	missense,missense,missense	MINA	NM_001042533.1,NM_032778.4,NM_153182.2	64,64,64	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign,benign,benign	344/466,343/465,344/466	97668717	1,13005	2203	4300	6503	SO:0001583	missense	84864				ribosome biogenesis	cytoplasm|nucleolus		g.chr3:97668717G>A	AB083189	CCDS2929.1, CCDS43114.1	3q22.1	2005-07-22			ENSG00000170854	ENSG00000170854			19441	protein-coding gene	gene with protein product		612049				12091391	Standard	NM_001042533		Approved	MINA53, FLJ14393, mdig	uc003dsb.1	Q8IUF8	OTTHUMG00000160107	ENST00000333396.7:c.1031C>T	3.37:g.97668717G>A	ENSP00000328251:p.Ala344Val					MINA_ENST00000360258.4_Missense_Mutation_p.A343V|MINA_ENST00000394198.2_Missense_Mutation_p.A344V	p.A344V	NM_001042533.2|NM_032778.5	NP_001035998.1|NP_116167.3	Q8IUF8	MINA_HUMAN			7	1613	-			344						Missense_Mutation	SNP	ENST00000333396.7	37	c.1031C>T	CCDS43114.1	.	.	.	.	.	.	.	.	.	.	G	8.672	0.903036	0.17760	2.27E-4	0.0	ENSG00000170854	ENST00000442492;ENST00000333396;ENST00000394198;ENST00000360258	T;T;T	0.17528	2.27;2.27;2.27	5.95	-6.38	0.01957	Cupin, JmjC-type (1);	1.613870	0.02999	N	0.147881	T	0.04952	0.0133	N	0.01109	-1.01	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.34279	-0.9835	10	0.28530	T	0.3	0.4742	6.5582	0.22471	0.6632:0.0:0.176:0.1609	.	343;344	Q8IUF8-4;Q8IUF8	.;MINA_HUMAN	V	90;344;344;343	ENSP00000328251:A344V;ENSP00000377748:A344V;ENSP00000353395:A343V	ENSP00000328251:A344V	A	-	2	0	MINA	99151407	0.000000	0.05858	0.000000	0.03702	0.066000	0.16364	-0.070000	0.11523	-1.102000	0.03023	-0.793000	0.03317	GCG		0.517	MINA-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000359244.3	NM_032778		10	46	0	0	0	1	0	10	46					A	97668717	G	A	97668717	3	1	427	1	0	0	0	0	1	0	0	0	9586	1087	38	1	382	1	MINA	3	97668717	Missense_Mutation	SNP	G	TCGA-XJ-A83G-01A-11D-A34U-08	83179607	97668717	100353713	9	20614											
UGT2B4	7363	broad.mit.edu	37	chr4	70361505	70361505	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgtgggccacaccagcacCtttccacaactcccagagct	9	8	7	17	0	1	1	0	0	1	1	3	1	3	1	5	1	3	2	5	1	1	1			TCGA-XJ-A83G-01A-11D-A34U-08	TCGA-XJ-A83G-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8130ce33-1338-4bc9-b812-7060168d762a	4c90ef8d-c640-4c67-bafa-12fb155781aa	g.chr4:70361505C>T	ENST00000305107.6	-	1	121	c.75G>A	c.(73-75)aaG>aaA	p.K25K	UGT2B4_ENST00000381096.3_Intron|UGT2B4_ENST00000512583.1_Silent_p.K25K|UGT2B4_ENST00000506580.1_5'UTR	NM_021139.2	NP_066962.2	P06133	UD2B4_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B4	25					cellular glucuronidation (GO:0052695)|estrogen catabolic process (GO:0006711)|metabolic process (GO:0008152)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(29)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	47					Canagliflozin(DB08907)|Codeine(DB00318)|Dapagliflozin(DB06292)|Flurbiprofen(DB00712)|Ibuprofen(DB01050)|Morphine(DB00295)	ACACCAGCACCTTTCCACAAC	0.453																																						ENST00000305107.6																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(29)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	47						c.(73-75)aaG>aaA		UDP glucuronosyltransferase 2 family, polypeptide B4							152	153	153					4																	70361505		2203	4300	6503	SO:0001819	synonymous_variant	7363				estrogen catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	g.chr4:70361505C>T	BC026264	CCDS43234.1, CCDS75137.1	4q13	2008-02-05	2005-07-20			ENSG00000156096		"UDP glucuronosyltransferases"	12553	protein-coding gene	gene with protein product		600067	"UDP glycosyltransferase 2 family, polypeptide B4"			3109396, 7835904	Standard	NM_021139		Approved	UGT2B11	uc003hek.4	P06133		ENST00000305107.6:c.75G>A	4.37:g.70361505C>T						UGT2B4_ENST00000512583.1_Silent_p.K25K|UGT2B4_ENST00000506580.1_5'UTR|UGT2B4_ENST00000381096.3_Intron	p.K25K	NM_021139.2	NP_066962.2	P06133	UD2B4_HUMAN			1	121	-			25					A6NCP7|B4DT75|G5E9X8|O60731|O60867|O75614|P36538|Q1HBF9|Q6QQX7	Silent	SNP	ENST00000305107.6	37	c.75G>A	CCDS43234.1																																																																																				0.453	UGT2B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365526.1	NM_021139		7	231	0	0	0	1	0	7	231					T	70361505	C	T	70361505	2	4	427	1	0	0	0	0	0	0	0	1	16958	680	24	3		3	UGT2B4	4	70361505	Silent	SNP	C	TCGA-XJ-A83G-01A-11D-A34U-08		70361505	120792771	10	20615											
HAPLN1	1404	broad.mit.edu	37	chr5	82948496	82948496	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgaggtaatccgaagttagcTtggtccacttaattcggatt	10	14	10	7	2	0	1	0	1	0	0	3	3	2	2	2	3	1	3	2	3	4	6			TCGA-XJ-A83G-01A-11D-A34U-08	TCGA-XJ-A83G-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8130ce33-1338-4bc9-b812-7060168d762a	4c90ef8d-c640-4c67-bafa-12fb155781aa	g.chr5:82948496T>A	ENST00000274341.4	-	3	1098	c.248A>T	c.(247-249)aAg>aTg	p.K83M	HAPLN1_ENST00000514416.1_Missense_Mutation_p.K83M	NM_001884.3	NP_001875.1	P10915	HPLN1_HUMAN	hyaluronan and proteoglycan link protein 1	83	Ig-like V-type.				cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	hyaluronic acid binding (GO:0005540)			breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|liver(1)|lung(15)|ovary(1)|prostate(1)|skin(1)	34		Lung NSC(167;0.0484)|all_lung(232;0.0522)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;7.82e-42)|Epithelial(54;5.88e-35)|all cancers(79;1.14e-29)	Hyaluronan(DB08818)	CGAAGTTAGCTTGGTCCACTT	0.423																																						ENST00000274341.4																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|liver(1)|lung(15)|ovary(1)|prostate(1)|skin(1)	34						c.(247-249)aAg>aTg		hyaluronan and proteoglycan link protein 1							118	110	113					5																	82948496		2203	4300	6503	SO:0001583	missense	1404				cell adhesion	proteinaceous extracellular matrix	hyaluronic acid binding	g.chr5:82948496T>A		CCDS4061.1	5q14.3	2013-01-11	2004-03-16	2004-03-17	ENSG00000145681	ENSG00000145681		"Immunoglobulin superfamily / V-set domain containing"	2380	protein-coding gene	gene with protein product	"Cartilage link protein", "hyaluronan and proteoglycan link protein 1"	115435	"cartilage linking protein 1"	CRTL1		2286376, 2320422	Standard	NM_001884		Approved		uc003kin.3	P10915	OTTHUMG00000119045	ENST00000274341.4:c.248A>T	5.37:g.82948496T>A	ENSP00000274341:p.Lys83Met					HAPLN1_ENST00000514416.1_Missense_Mutation_p.K83M	p.K83M	NM_001884.3	NP_001875.1	P10915	HPLN1_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;7.82e-42)|Epithelial(54;5.88e-35)|all cancers(79;1.14e-29)	3	1098	-		Lung NSC(167;0.0484)|all_lung(232;0.0522)|Ovarian(174;0.142)	83			Ig-like V-type.		B2R9A9	Missense_Mutation	SNP	ENST00000274341.4	37	c.248A>T	CCDS4061.1	.	.	.	.	.	.	.	.	.	.	T	24.6	4.552836	0.86127	.	.	ENSG00000145681	ENST00000274341;ENST00000510978;ENST00000508307;ENST00000503117;ENST00000504713;ENST00000514416;ENST00000515590	T;T;T;T;T;T;T	0.71934	-0.61;-0.61;-0.61;-0.61;-0.61;-0.61;-0.61	6.07	6.07	0.98685	Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin V-set, subgroup (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.86451	0.5936	M	0.87900	2.915	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.88471	0.3062	10	0.72032	D	0.01	.	16.6277	0.84984	0.0:0.0:0.0:1.0	.	83	P10915	HPLN1_HUMAN	M	83;83;83;82;83;83;83	ENSP00000274341:K83M;ENSP00000422592:K83M;ENSP00000421341:K83M;ENSP00000426610:K82M;ENSP00000422522:K83M;ENSP00000421726:K83M;ENSP00000423836:K83M	ENSP00000274341:K83M	K	-	2	0	HAPLN1	82984252	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.830000	0.62745	2.330000	0.79161	0.528000	0.53228	AAG		0.423	HAPLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239256.2	NM_001884		4	95	0	0	0	1	0	4	95					A	82948496	T	A	82948496	3	1	427	1	0	0	0	0	1	0	0	0	6954	1609	56	5	828	5	HAPLN1	5	82948496	Missense_Mutation	SNP	T	TCGA-XJ-A83G-01A-11D-A34U-08		82948496	97966764	11	20616											
GCNT2	2651	broad.mit.edu	37	chr6	10586309	10586309	+	Intron	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacagtagccaattgagcccGccaaaaagttatgagaagct	15	8	9	9	1	0	2	0	2	0	1	0	3	0	2	3	0	4	3	3	0	7	4	rs201305914		TCGA-XJ-A83G-01A-11D-A34U-08	TCGA-XJ-A83G-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8130ce33-1338-4bc9-b812-7060168d762a	4c90ef8d-c640-4c67-bafa-12fb155781aa	g.chr6:10586309G>A	ENST00000379597.3	+	2	1481				GCNT2_ENST00000397423.2_Intron|GCNT2_ENST00000265012.4_Silent_p.P29P|GCNT2_ENST00000316170.3_Intron|GCNT2_ENST00000495262.1_Intron|GCNT2_ENST00000410107.1_Intron			Q8N0V5	GNT2A_HUMAN	glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (I blood group)						maintenance of lens transparency (GO:0036438)|negative regulation of cell-substrate adhesion (GO:0010812)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of protein kinase B signaling (GO:0051897)|posttranscriptional regulation of gene expression (GO:0010608)|protein glycosylation (GO:0006486)|transforming growth factor beta receptor signaling pathway (GO:0007179)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity (GO:0008109)			endometrium(2)|kidney(1)|large_intestine(5)|lung(2)|ovary(2)	12	Ovarian(93;0.107)|Breast(50;0.148)	all_hematologic(90;0.107)		KIRC - Kidney renal clear cell carcinoma(1;0.099)|Kidney(1;0.119)		AATTGAGCCCGCCAAAAAGTT	0.403													G|||	1	0.000199681	8e-04	0	5008	,	,		20608	0		0	False		,,,				2504	0					ENST00000265012.4																			0				endometrium(2)|kidney(1)|large_intestine(5)|lung(2)|ovary(2)	12						c.(85-87)ccG>ccA		glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (I blood group)							138	133	135					6																	10586309		2203	4300	6503	SO:0001627	intron_variant	2651					Golgi membrane|integral to membrane	N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity	g.chr6:10586309G>A	L41605	CCDS4512.1, CCDS4513.1, CCDS34338.1	6p24.2	2014-07-18	2006-02-23		ENSG00000111846	ENSG00000111846	2.4.1.150	"Blood group antigens", "Glucosaminyl (N-acetyl) transferase and xylosyltransferase family"	4204	protein-coding gene	gene with protein product	"Ii blood group", "unassigned linkage group 3"	600429	"glucosaminyl (N-acetyl) transferase 5", "glucosaminyl (N-acetyl) transferase 2, I-branching enzyme", "glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (Ii blood group)", "cataract, congenital"	NACGT1, II, GCNT5, CCAT		8449405, 9915862	Standard	NM_145649		Approved	IGNT, NAGCT1, bA421M1.1, bA360O19.2, ULG3	uc003mze.3	Q06430	OTTHUMG00000014244	ENST00000379597.3:c.926-35275G>A	6.37:g.10586309G>A						GCNT2_ENST00000495262.1_Intron|GCNT2_ENST00000379597.3_Intron|GCNT2_ENST00000316170.3_Intron|GCNT2_ENST00000397423.2_Intron|GCNT2_ENST00000410107.1_Intron	p.P29P	NM_145655.3	NP_663630.2	Q8N0V5	GNT2A_HUMAN		KIRC - Kidney renal clear cell carcinoma(1;0.099)|Kidney(1;0.119)	1	331	+	Ovarian(93;0.107)|Breast(50;0.148)	all_hematologic(90;0.107)	30						Silent	SNP	ENST00000379597.3	37	c.87G>A	CCDS34338.1																																																																																				0.403	GCNT2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000327912.3	NM_145649		4	116	0	0	0	1	0	4	116					A	10586309	G	A	10586309	1	1	427	0	1	0	0	0	0	0	0	0	6301	1074	38	1		1	GCNT2	6	10586309	Intron	SNP	G	TCGA-XJ-A83G-01A-11D-A34U-08		10586309	160528758	12	20617											
AGER	177	broad.mit.edu	37	chr6	32151419	32151419	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aatcccctcatcctggatccCgacagccggaaggaagaggg	11	5	12	13	2	1	1	1	0	0	1	4	5	4	4	5	4	1	0	5	4	3	0			TCGA-XJ-A83G-01A-11D-A34U-08	TCGA-XJ-A83G-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8130ce33-1338-4bc9-b812-7060168d762a	4c90ef8d-c640-4c67-bafa-12fb155781aa	g.chr6:32151419C>T	ENST00000375076.4	-	3	369	c.268G>A	c.(268-270)Ggg>Agg	p.G90R	AGER_ENST00000375055.2_Missense_Mutation_p.G90R|XXbac-BPG300A18.13_ENST00000559458.1_RNA|AGER_ENST00000375065.5_Missense_Mutation_p.G90R|AGER_ENST00000375069.3_5'UTR|AGER_ENST00000375067.3_Missense_Mutation_p.G76R|AGER_ENST00000375070.3_Missense_Mutation_p.G121R|AGER_ENST00000438221.2_Missense_Mutation_p.G90R|RNF5_ENST00000427134.2_3'UTR|AGER_ENST00000538695.1_Missense_Mutation_p.G90R	NM_001136.4|NM_001206929.1|NM_001206932.1	NP_001127.1|NP_001193858.1|NP_001193861.1	Q15109	RAGE_HUMAN	advanced glycosylation end product-specific receptor	90	Ig-like V-type.				cell surface receptor signaling pathway (GO:0007166)|induction of positive chemotaxis (GO:0050930)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|neuron projection development (GO:0031175)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|response to wounding (GO:0009611)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)|receptor activity (GO:0004872)|S100 protein binding (GO:0044548)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|endometrium(1)|lung(5)|pancreas(2)	9						TCCTGGATCCCGACAGCCGGA	0.587																																						ENST00000375076.4																			0				breast(1)|endometrium(1)|lung(5)|pancreas(2)	9						c.(268-270)Ggg>Agg		advanced glycosylation end product-specific receptor							89	96	93					6																	32151419		1509	2707	4216	SO:0001583	missense	177				cell surface receptor linked signaling pathway|inflammatory response|innate immune response|neuron projection development|positive regulation of NF-kappaB transcription factor activity	integral to plasma membrane	S100 alpha binding|transmembrane receptor activity	g.chr6:32151419C>T	M91211	CCDS4746.1, CCDS4747.1, CCDS56417.1, CCDS56418.1, CCDS75429.1	6p21.3	2013-01-29			ENSG00000204305	ENSG00000204305		"Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	320	protein-coding gene	gene with protein product		600214				7713518	Standard	NM_001136		Approved	RAGE	uc003oap.2	Q15109	OTTHUMG00000031120	ENST00000375076.4:c.268G>A	6.37:g.32151419C>T	ENSP00000364217:p.Gly90Arg					AGER_ENST00000538695.1_Missense_Mutation_p.G90R|AGER_ENST00000375070.3_Missense_Mutation_p.G121R|AGER_ENST00000375065.5_Missense_Mutation_p.G90R|AGER_ENST00000375055.2_Missense_Mutation_p.G90R|AGER_ENST00000438221.2_Missense_Mutation_p.G90R|RNF5_ENST00000427134.2_3'UTR|AGER_ENST00000375067.3_Missense_Mutation_p.G76R|AGER_ENST00000375069.3_5'UTR	p.G90R	NM_001136.4|NM_001206929.1|NM_001206932.1	NP_001127.1|NP_001193858.1|NP_001193861.1	Q15109	RAGE_HUMAN			3	369	-			90			Ig-like V-type.		A2BFI7|A6NKF0|A7Y2U9|B0V176|Q15279|Q3L1R4|Q3L1R5|Q3L1R6|Q3L1R7|Q3L1R8|Q3L1S0|Q86SN1|Q9H2X7|Q9Y3R3|V5R6A3	Missense_Mutation	SNP	ENST00000375076.4	37	c.268G>A	CCDS4746.1	.	.	.	.	.	.	.	.	.	.	C	14.88	2.668003	0.47677	.	.	ENSG00000204305	ENST00000375067;ENST00000375055;ENST00000375076;ENST00000375070;ENST00000546237;ENST00000438221;ENST00000375065;ENST00000450110;ENST00000375056;ENST00000538695	T;T;T;T;T;T;T;T;T	0.12039	2.72;2.72;2.72;2.72;2.72;2.72;2.72;2.72;2.72	5.82	5.82	0.92795	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.133325	0.35291	N	0.003320	T	0.23727	0.0574	L	0.53249	1.67	0.43798	D	0.996349	D;D;D;D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;0.996	D;D;D;D;D;D;D;D;D;D;D;D	0.97110	1.0;1.0;1.0;0.999;0.995;1.0;1.0;0.999;1.0;1.0;1.0;0.929	T	0.00243	-1.1884	10	0.38643	T	0.18	-14.2092	15.5911	0.76530	0.0:1.0:0.0:0.0	.	90;90;90;90;90;90;90;90;76;90;76;90	B5A978;B5A979;B5A981;B5A980;A7Y2U9;Q15109-3;Q3L1R7;Q3L1R6;Q3L1R5;Q3L1R8;Q15109-2;Q15109	.;.;.;.;.;.;.;.;.;.;.;RAGE_HUMAN	R	76;90;90;121;90;90;90;90;90;90	ENSP00000364208:G76R;ENSP00000364195:G90R;ENSP00000364217:G90R;ENSP00000364211:G121R;ENSP00000387887:G90R;ENSP00000364206:G90R;ENSP00000398466:G90R;ENSP00000364196:G90R;ENSP00000445389:G90R	ENSP00000364195:G90R	G	-	1	0	AGER	32259397	0.986000	0.35501	0.955000	0.39395	0.952000	0.60782	3.523000	0.53488	2.755000	0.94549	0.591000	0.81541	GGG		0.587	AGER-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076200.1	NM_001136		7	74	0	0	0	1	0	7	74					T	32151419	C	T	32151419	3	4	427	1	0	0	0	0	1	0	0	0	379	652	23	2	1011	2	AGER	6	32151419	Missense_Mutation	SNP	C	TCGA-XJ-A83G-01A-11D-A34U-08	21565110	32151419	138963648	13	20618											
PKHD1	5314	broad.mit.edu	37	chr6	51882246	51882251	+	In_Frame_Del	DEL	TGCCCA	TGCCCA	-																															aatgatggaaacattgactcTgcccaatgatctggcacaaa																										TCGA-XJ-A83G-01A-11D-A34U-08	TCGA-XJ-A83G-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8130ce33-1338-4bc9-b812-7060168d762a	4c90ef8d-c640-4c67-bafa-12fb155781aa	g.chr6:51882246_51882251delTGCCCA	ENST00000371117.3	-	34	5832_5837	c.5557_5562delTGGGCA	c.(5557-5562)tgggcadel	p.WA1853del	PKHD1_ENST00000340994.4_In_Frame_Del_p.WA1853del	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	1853					cellular calcium ion homeostasis (GO:0006874)|cilium assembly (GO:0042384)|homeostatic process (GO:0042592)|kidney development (GO:0001822)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular component movement (GO:0051271)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of cell proliferation (GO:0008284)|regulation of centrosome duplication (GO:0010824)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of TOR signaling (GO:0032006)|single organismal cell-cell adhesion (GO:0016337)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|primary cilium (GO:0072372)	receptor activity (GO:0004872)	p.W1853L(2)		NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					ACATTGACTCTGCCCAATGATCTGGC	0.49																																						ENST00000371117.3																			2	Substitution - Missense(2)	p.W1853L(2)	lung(2)	NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304						c.(5557-5562)del		polycystic kidney and hepatic disease 1 (autosomal recessive)																																				SO:0001651	inframe_deletion	5314				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity	g.chr6:51882246_51882251delTGCCCA	AF480064	CCDS4935.1, CCDS4936.1	6p21.2-p12	2012-11-26	2003-04-16		ENSG00000170927	ENSG00000170927			9016	protein-coding gene	gene with protein product	"tigmin", "polyductin", "fibrocystin"	606702	"TIG multiple domains 1"	TIGM1		9503014	Standard	NM_138694		Approved	ARPKD, FCYT	uc003pah.1	P08F94	OTTHUMG00000014841	ENST00000371117.3:c.5557_5562delTGGGCA	6.37:g.51882246_51882251delTGCCCA	ENSP00000360158:p.Trp1853_Ala1854del					PKHD1_ENST00000340994.4_In_Frame_Del_p.WA1853del	p.WA1853del	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN			34	5832_5837	-	Lung NSC(77;0.0605)		1853					Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	In_Frame_Del	DEL	ENST00000371117.3	37	c.5557_5562delTGGGCA	CCDS4935.1																																																																																				0.49	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040893.1	NM_138694		15	70						15	70	---	---	---	---	-	51882251	TGCCCA	-	51882246	7	5	427	1	0	1	0	1	0	0	0	0	11971	1567	55	0	6837	0	PKHD1	6	51882246	In_Frame_Del	DEL	TGCCCA	TCGA-XJ-A83G-01A-11D-A34U-08	19730827	51882246	119232821	14	20619											
EXT1	2131	broad.mit.edu	37	chr8	118831983	118831983	+	Frame_Shift_Del	DEL	G	G	-																															tggctgggactgagagaccaGgggggtcaccgcatggatga																										TCGA-XJ-A83G-01A-11D-A34U-08	TCGA-XJ-A83G-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8130ce33-1338-4bc9-b812-7060168d762a	4c90ef8d-c640-4c67-bafa-12fb155781aa	g.chr8:118831983delG	ENST00000378204.2	-	6	2274	c.1468delC	c.(1468-1470)ctgfs	p.L490fs		NM_000127.2	NP_000118.2	Q16394	EXT1_HUMAN	exostosin glycosyltransferase 1	490					axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|cellular polysaccharide biosynthetic process (GO:0033692)|embryonic skeletal joint development (GO:0072498)|endoderm development (GO:0007492)|gastrulation (GO:0007369)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process (GO:0015014)|mesoderm development (GO:0007498)|olfactory bulb development (GO:0021772)|ossification (GO:0001503)|protein glycosylation (GO:0006486)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)	acetylglucosaminyltransferase activity (GO:0008375)|glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity (GO:0050508)|glucuronosyltransferase activity (GO:0015020)|heparan sulfate N-acetylglucosaminyltransferase activity (GO:0042328)|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity (GO:0050509)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|transferase activity, transferring glycosyl groups (GO:0016757)			breast(1)|endometrium(7)|kidney(1)|large_intestine(12)|lung(10)|ovary(3)|prostate(1)|stomach(1)|urinary_tract(2)	38	all_cancers(13;2.36e-26)|Lung NSC(37;5.02e-07)|Ovarian(258;0.0173)		STAD - Stomach adenocarcinoma(47;0.012)			TGAGAGACCAGGGGGGTCACC	0.547			"Mis, N, F, S"			"exostoses, osteosarcoma"			Langer-Giedion syndrome;Hereditary Multiple Exostoses																													ENST00000378204.2			yes	Rec		Multiple Exostoses Type 1	8	8q24.11-q24.13	2131	"Mis, N, F, S"	multiple exostoses type 1 gene			M		"exostoses, osteosarcoma"			0				breast(1)|endometrium(7)|kidney(1)|large_intestine(12)|lung(10)|ovary(3)|prostate(1)|stomach(1)|urinary_tract(2)	38	GRCh37	CD000259	EXT1	D		c.(1468-1470)tgfs		exostosin glycosyltransferase 1							79	86	84					8																	118831983		2203	4300	6503	SO:0001589	frameshift_variant	2131	Langer-Giedion syndrome;Hereditary Multiple Exostoses	Familial Cancer Database	Trichorhinophalangeal syndrome type 2, TRPS II;HME, Hereditary Exostoses, Multiple Osteochondromatosis, Multiple Cartilaginous Exostoses	glycosaminoglycan biosynthetic process|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|ossification|signal transduction|skeletal system development	Golgi membrane|integral to endoplasmic reticulum membrane	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|heparan sulfate N-acetylglucosaminyltransferase activity|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity	g.chr8:118831983delG	S79639	CCDS6324.1	8q24.11	2014-09-17	2013-03-01		ENSG00000182197	ENSG00000182197	2.4.1.224, 2.4.1.225	"Exostosin glycosyltransferase family"	3512	protein-coding gene	gene with protein product	"Glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N- acetylglucosaminyltransferase", "N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase"	608177	"Langer-Giedion syndrome chromosome region", "exostoses (multiple) 1", "exostosin 1"	LGCR, LGS			Standard	NM_000127		Approved	ttv	uc003yok.1	Q16394	OTTHUMG00000059718	ENST00000378204.2:c.1468delC	8.37:g.118831983delG	ENSP00000367446:p.Leu490fs						p.L490fs	NM_000127.2	NP_000118.2	Q16394	EXT1_HUMAN	STAD - Stomach adenocarcinoma(47;0.012)		6	2274	-	all_cancers(13;2.36e-26)|Lung NSC(37;5.02e-07)|Ovarian(258;0.0173)		490					B2R7V2|Q9BVI9	Frame_Shift_Del	DEL	ENST00000378204.2	37	c.1468delC	CCDS6324.1																																																																																				0.547	EXT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132768.3	NM_000127		13	84						13	84	---	---	---	---	-	118831983	G	-	118831983	7	5	427	1	0	1	0	1	0	0	0	0	5323	991	35	0	796	0	EXT1	8	118831983	Frame_Shift_Del	DEL	G	TCGA-XJ-A83G-01A-11D-A34U-08		118831983	27532039	15	20620											
MLLT3	4300	broad.mit.edu	37	chr9	20414313	20414313	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgctactgctgctgctactGctgctgctgctgctgctgct	2	14	11	14	0	0	0	0	0	0	0	0	0	0	0	0	0	13	11	0	0	2	2			TCGA-XJ-A83G-01A-11D-A34U-08	TCGA-XJ-A83G-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8130ce33-1338-4bc9-b812-7060168d762a	4c90ef8d-c640-4c67-bafa-12fb155781aa	g.chr9:20414313G>A	ENST00000380338.4	-	5	817	c.531C>T	c.(529-531)agC>agT	p.S177S	MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S174S|MLLT3_ENST00000475957.1_5'UTR	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	177	Poly-Ser.				anterior/posterior pattern specification (GO:0009952)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|regulation of transcription, DNA-templated (GO:0006355)|segment specification (GO:0007379)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)				central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		tgctgctactgctgctgctgc	0.527			T	MLL	ALL																																	ENST00000380338.4				Dom	yes		9	9p22	4300	T	"myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 (AF9)"			L	MLL		ALL		0				central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66						c.(529-531)agC>agT		myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3							22	31	28					9																	20414313		2066	3973	6039	SO:0001819	synonymous_variant	4300				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	g.chr9:20414313G>A	L13744	CCDS6494.1	9p22	2008-02-05	2001-11-28		ENSG00000171843	ENSG00000171843			7136	protein-coding gene	gene with protein product		159558	"myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 3"			8506309, 8414510	Standard	NM_001286691		Approved	AF-9, AF9, YEATS3	uc003zoe.2	P42568	OTTHUMG00000019650	ENST00000380338.4:c.531C>T	9.37:g.20414313G>A						MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S174S|MLLT3_ENST00000355930.6_5'UTR	p.S177S	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN		GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)	5	817	-			177			Poly-Ser.		B1AMQ2|B2R7B3|B7Z755|D3DRJ8|Q8IVB0	Silent	SNP	ENST00000380338.4	37	c.531C>T	CCDS6494.1																																																																																				0.527	MLLT3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051872.1	NM_004529		4	103	0	0	0	1	0	4	103					A	20414313	G	A	20414313	2	1	427	1	0	0	0	0	0	0	0	1	9628	1310	46	3		3	MLLT3	9	20414313	Silent	SNP	G	TCGA-XJ-A83G-01A-11D-A34U-08		20414313	120799118	16	20621											
FCN1	2219	broad.mit.edu	37	chr9	137802991	137802991	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acactcacccgcactgccccCgacaaaggctcccagtacca	11	4	6	20	2	1	0	1	0	0	0	2	1	2	0	5	1	2	3	5	1	2	1	rs149439264	byFrequency	TCGA-XJ-A83G-01A-11D-A34U-08	TCGA-XJ-A83G-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8130ce33-1338-4bc9-b812-7060168d762a	4c90ef8d-c640-4c67-bafa-12fb155781aa	g.chr9:137802991C>T	ENST00000371806.3	-	8	812	c.721G>A	c.(721-723)Ggg>Agg	p.G241R		NM_002003.3	NP_001994.2	O00602	FCN1_HUMAN	ficolin (collagen/fibrinogen domain containing) 1	241	B domain; contributes to trimerization.|Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				cell surface pattern recognition receptor signaling pathway (GO:0002752)|complement activation (GO:0006956)|complement activation, lectin pathway (GO:0001867)|G-protein coupled receptor signaling pathway (GO:0007186)|innate immune response (GO:0045087)|opsonization (GO:0008228)|positive regulation of interleukin-8 secretion (GO:2000484)	collagen trimer (GO:0005581)|extracellular region (GO:0005576)|extrinsic component of external side of plasma membrane (GO:0031232)	antigen binding (GO:0003823)|calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|G-protein coupled receptor binding (GO:0001664)|signaling pattern recognition receptor activity (GO:0008329)	p.G241R(2)		endometrium(3)|kidney(3)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	37		Myeloproliferative disorder(178;0.0333)		OV - Ovarian serous cystadenocarcinoma(145;3.46e-08)|Epithelial(140;6.01e-08)|all cancers(34;3.69e-07)		GCACTGCCCCCGACAAAGGCT	0.582																																						ENST00000371806.3																			2	Substitution - Missense(2)	p.G241R(2)	endometrium(1)|kidney(1)	endometrium(3)|kidney(3)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	37						c.(721-723)Ggg>Agg		ficolin (collagen/fibrinogen domain containing) 1		C	ARG/GLY	3,4403	6.2+/-15.9	0,3,2200	207	200	202		721	2.5	0	9	dbSNP_134	202	1,8599	1.2+/-3.3	0,1,4299	yes	missense	FCN1	NM_002003.3	125	0,4,6499	TT,TC,CC		0.0116,0.0681,0.0308	possibly-damaging	241/327	137802991	4,13002	2203	4300	6503	SO:0001583	missense	2219				opsonization|signal transduction	collagen|extracellular space	antigen binding|calcium ion binding|receptor binding|sugar binding	g.chr9:137802991C>T	D83920	CCDS6985.1	9q34	2013-02-06	2002-01-14		ENSG00000085265	ENSG00000085265		"Fibrinogen C domain containing"	3623	protein-coding gene	gene with protein product		601252	"ficolin (collagen/fibrinogen domain-containing) 1"			8573080, 8884275	Standard	NM_002003		Approved	FCNM	uc004cfi.3	O00602	OTTHUMG00000020895	ENST00000371806.3:c.721G>A	9.37:g.137802991C>T	ENSP00000360871:p.Gly241Arg						p.G241R	NM_002003.3	NP_001994.2	O00602	FCN1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;3.46e-08)|Epithelial(140;6.01e-08)|all cancers(34;3.69e-07)	8	812	-		Myeloproliferative disorder(178;0.0333)	241			Fibrinogen C-terminal.		Q5VYV5|Q92596	Missense_Mutation	SNP	ENST00000371806.3	37	c.721G>A	CCDS6985.1	.	.	.	.	.	.	.	.	.	.	C	4.098	0.016136	0.07959	6.81E-4	1.16E-4	ENSG00000085265	ENST00000371806	D	0.89552	-2.53	3.4	2.49	0.30216	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (4);Fibrinogen, alpha/beta/gamma chain, C-terminal globular, subdomain 1 (1);	.	.	.	.	D	0.86406	0.5925	M	0.68317	2.08	0.09310	N	1	P	0.44986	0.847	B	0.40329	0.326	T	0.77341	-0.2624	9	0.56958	D	0.05	.	8.7794	0.34783	0.0:0.8831:0.0:0.1169	.	241	O00602	FCN1_HUMAN	R	241	ENSP00000360871:G241R	ENSP00000360871:G241R	G	-	1	0	FCN1	136942812	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	0.034000	0.13776	0.774000	0.33427	-0.311000	0.09066	GGG		0.582	FCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054963.1	NM_002003		42	136	0	0	0	1	0	42	136					T	137802991	C	T	137802991	3	4	427	1	0	0	0	0	1	0	0	0	5791	652	23	2	267	2	FCN1	9	137802991	Missense_Mutation	SNP	C	TCGA-XJ-A83G-01A-11D-A34U-08	117388678	137802991	3410440	17	20622											
TET1	80312	broad.mit.edu	37	chr10	70411669	70411669	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggcaggaccaagtgttgctgCtgtcagggaaatcatggaga	11	8	15	7	0	2	1	2	0	0	1	2	4	2	3	1	4	2	4	1	4	2	1			TCGA-XJ-A83G-01A-11D-A34U-08	TCGA-XJ-A83G-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8130ce33-1338-4bc9-b812-7060168d762a	4c90ef8d-c640-4c67-bafa-12fb155781aa	g.chr10:70411669C>A	ENST00000373644.4	+	5	4552	c.4343C>A	c.(4342-4344)gCt>gAt	p.A1448D		NM_030625.2	NP_085128.2	Q8NFU7	TET1_HUMAN	tet methylcytosine dioxygenase 1	1448					chromatin modification (GO:0016568)|DNA demethylation (GO:0080111)|inner cell mass cell differentiation (GO:0001826)|negative regulation of methylation-dependent chromatin silencing (GO:0090310)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein O-linked glycosylation (GO:0006493)|regulation of DNA methylation (GO:0044030)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	iron ion binding (GO:0005506)|methylcytosine dioxygenase activity (GO:0070579)|structure-specific DNA binding (GO:0043566)|zinc ion binding (GO:0008270)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2)	21						AGTGTTGCTGCTGTCAGGGAA	0.408																																						ENST00000373644.4																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2)	21						c.(4342-4344)gCt>gAt		tet methylcytosine dioxygenase 1							157	160	159					10																	70411669		2203	4300	6503	SO:0001583	missense	80312				DNA demethylation|inner cell mass cell differentiation|negative regulation of methylation-dependent chromatin silencing|stem cell maintenance		iron ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|structure-specific DNA binding|zinc ion binding	g.chr10:70411669C>A	AF430147	CCDS7281.1	10q21	2014-02-18	2011-09-30	2008-03-12	ENSG00000138336	ENSG00000138336			29484	protein-coding gene	gene with protein product	"leukemia-associated protein with a CXXC domain", "ten-eleven translocation-1"	607790	"CXXC zinc finger 6", "tet oncogene 1"	CXXC6		12124344, 12646957	Standard	NM_030625		Approved	LCX, KIAA1676, bA119F7.1	uc001jok.4	Q8NFU7	OTTHUMG00000018359	ENST00000373644.4:c.4343C>A	10.37:g.70411669C>A	ENSP00000362748:p.Ala1448Asp						p.A1448D	NM_030625.2	NP_085128.2	Q8NFU7	TET1_HUMAN			5	4552	+			1448					Q5VUP7|Q7Z6B6|Q8TCR1|Q9C0I7	Missense_Mutation	SNP	ENST00000373644.4	37	c.4343C>A	CCDS7281.1	.	.	.	.	.	.	.	.	.	.	C	33	5.196582	0.94960	.	.	ENSG00000138336	ENST00000373644	T	0.39592	1.07	5.83	5.83	0.93111	TET cysteine-rich domain (1);	0.123530	0.53938	D	0.000049	T	0.58652	0.2137	L	0.39085	1.19	0.58432	D	0.999996	D	0.89917	1.0	D	0.87578	0.998	T	0.59247	-0.7490	10	0.87932	D	0	.	20.1356	0.98028	0.0:1.0:0.0:0.0	.	1448	Q8NFU7	TET1_HUMAN	D	1448	ENSP00000362748:A1448D	ENSP00000362748:A1448D	A	+	2	0	TET1	70081675	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.294000	0.78760	2.755000	0.94549	0.650000	0.86243	GCT		0.408	TET1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048354.1	NM_030625		8	86	1	0	1.12685e-05	1	1.20197e-05	8	86					A	70411669	C	A	70411669	3	1	427	1	0	0	0	0	1	0	0	0	15766	797	28	5	4357	5	TET1	10	70411669	Missense_Mutation	SNP	C	TCGA-XJ-A83G-01A-11D-A34U-08		70411669	65123078	18	20623											
GBF1	8729	broad.mit.edu	37	chr10	104140091	104140091	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cttggacttcatggacaagtAcatgcacgcaggctccagcg	10	8	11	12	2	1	0	1	0	0	0	2	2	2	2	1	3	3	4	1	3	2	3			TCGA-XJ-A83G-01A-11D-A34U-08	TCGA-XJ-A83G-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8130ce33-1338-4bc9-b812-7060168d762a	4c90ef8d-c640-4c67-bafa-12fb155781aa	g.chr10:104140091A>G	ENST00000369983.3	+	37	5221	c.4961A>G	c.(4960-4962)tAc>tGc	p.Y1654C		NM_001199378.1|NM_001199379.1|NM_004193.2	NP_001186307.1|NP_001186308.1|NP_004184.1	Q92538	GBF1_HUMAN	golgi brefeldin A resistant guanine nucleotide exchange factor 1	1654					COPI coating of Golgi vesicle (GO:0048205)|membrane organization (GO:0061024)|positive regulation of GTPase activity (GO:0043547)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of ARF protein signal transduction (GO:0032012)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|vesicle-mediated transport (GO:0016192)|viral process (GO:0016032)	cis-Golgi network (GO:0005801)|endoplasmic reticulum lumen (GO:0005788)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisome (GO:0005777)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(14)|kidney(8)|large_intestine(15)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	71		Colorectal(252;0.0236)		Epithelial(162;5.16e-08)|all cancers(201;1.19e-06)		ATGGACAAGTACATGCACGCA	0.577																																						ENST00000369983.3																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(14)|kidney(8)|large_intestine(15)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	71						c.(4960-4962)tAc>tGc		golgi brefeldin A resistant guanine nucleotide exchange factor 1							159	146	150					10																	104140091		2203	4300	6503	SO:0001583	missense	8729				COPI coating of Golgi vesicle|post-Golgi vesicle-mediated transport|regulation of ARF protein signal transduction|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane	ARF guanyl-nucleotide exchange factor activity|protein binding	g.chr10:104140091A>G	D87435	CCDS7533.1	10q24	2010-02-12	2010-02-12		ENSG00000107862	ENSG00000107862			4181	protein-coding gene	gene with protein product		603698	"golgi-specific brefeldin A resistance factor 1"			9828135	Standard	NM_004193		Approved	KIAA0248, ARF1GEF	uc001kux.2	Q92538	OTTHUMG00000018955	ENST00000369983.3:c.4961A>G	10.37:g.104140091A>G	ENSP00000359000:p.Tyr1654Cys						p.Y1654C	NM_001199378.1|NM_001199379.1|NM_004193.2	NP_001186307.1|NP_001186308.1|NP_004184.1	Q92538	GBF1_HUMAN		Epithelial(162;5.16e-08)|all cancers(201;1.19e-06)	37	5221	+		Colorectal(252;0.0236)	1654					Q5VXX3|Q96CK6|Q96HZ3|Q9H473	Missense_Mutation	SNP	ENST00000369983.3	37	c.4961A>G	CCDS7533.1	.	.	.	.	.	.	.	.	.	.	A	16.99	3.274236	0.59649	.	.	ENSG00000107862	ENST00000369983	T	0.11277	2.79	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	T	0.26521	0.0648	L	0.45581	1.43	0.80722	D	1	D;B;D	0.89917	1.0;0.327;0.999	D;B;D	0.80764	0.99;0.156;0.994	T	0.00807	-1.1558	10	0.29301	T	0.29	-13.1282	16.3483	0.83171	1.0:0.0:0.0:0.0	.	1650;1650;1654	Q149P1;Q149P0;Q92538	.;.;GBF1_HUMAN	C	1654	ENSP00000359000:Y1654C	ENSP00000359000:Y1654C	Y	+	2	0	GBF1	104130081	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.152000	0.94680	2.254000	0.74563	0.533000	0.62120	TAC		0.577	GBF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050051.1			20	63	0	0	0	1	0	20	63					G	104140091	A	G	104140091	3	3	427	1	0	0	0	0	1	0	0	0	6271	391	14	4	5103	4	GBF1	10	104140091	Missense_Mutation	SNP	A	TCGA-XJ-A83G-01A-11D-A34U-08	33728422	104140091	31394656	19	20624											
C10orf137	26098	broad.mit.edu	37	chr10	127429204	127429204	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gcattacgatacattaaattAgctttgcaaagccatggtaa	15	12	7	7	1	0	0	0	0	0	0	0	1	0	0	1	1	5	4	1	1	7	6			TCGA-XJ-A83G-01A-11D-A34U-08	TCGA-XJ-A83G-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8130ce33-1338-4bc9-b812-7060168d762a	4c90ef8d-c640-4c67-bafa-12fb155781aa	g.chr10:127429204A>C	ENST00000356792.4	+	16	2386	c.2154A>C	c.(2152-2154)ttA>ttC	p.L718F	C10orf137_ENST00000337623.3_Missense_Mutation_p.L684F	NM_001202438.1	NP_001189367.1	Q3B7T1	EDRF1_HUMAN		718					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(20)|ovary(8)|pancreas(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	61		all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936)				ACATTAAATTAGCTTTGCAAA	0.393																																						ENST00000337623.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(20)|ovary(8)|pancreas(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	61						c.(2050-2052)ttA>ttC		chromosome 10 open reading frame 137							101	94	96					10																	127429204		2203	4300	6503	SO:0001583	missense	26098				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	binding	g.chr10:127429204A>C																												ENST00000356792.4:c.2154A>C	10.37:g.127429204A>C	ENSP00000349244:p.Leu718Phe					C10orf137_ENST00000356792.4_Missense_Mutation_p.L718F	p.L684F	NM_015608.2	NP_056423.2	Q3B7T1	EDRF1_HUMAN			15	2157	+		all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936)	718					B2RC65|Q3KR40|Q4G190|Q5VZQ4|Q8IZ74|Q9Y3W4	Missense_Mutation	SNP	ENST00000356792.4	37	c.2052A>C	CCDS55733.1	.	.	.	.	.	.	.	.	.	.	A	13.54	2.266531	0.40095	.	.	ENSG00000107938	ENST00000356792;ENST00000392732;ENST00000337623;ENST00000368813	T	0.74209	-0.82	5.77	-5.93	0.02254	Tetratricopeptide-like helical (1);	0.000000	0.64402	D	0.000002	T	0.80232	0.4585	M	0.70595	2.14	0.48395	D	0.999645	D;B;B;D;D	0.89917	1.0;0.02;0.36;1.0;0.999	D;B;B;D;D	0.91635	0.999;0.027;0.181;0.997;0.996	T	0.80094	-0.1526	10	0.38643	T	0.18	.	12.8246	0.57712	0.3089:0.0961:0.595:0.0	.	718;718;65;684;718	F8W695;Q3B7T1;Q5VZQ1;Q3B7T1-5;Q3B7T1-3	.;EDRF1_HUMAN;.;.;.	F	718;718;684;138	ENSP00000357803:L138F	ENSP00000336727:L684F	L	+	3	2	C10orf137	127419194	0.148000	0.22702	0.245000	0.24217	0.963000	0.63663	-0.313000	0.08103	-1.033000	0.03299	-0.263000	0.10527	TTA		0.393	C10orf137-007	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388539.1			30	93	0	0	0	1	0	30	93					C	127429204	A	C	127429204	3	2	427	1	0	0	0	0	1	0	0	0	1594	417	15	5	2110	5	C10orf137	10	127429204	Missense_Mutation	SNP	A	TCGA-XJ-A83G-01A-11D-A34U-08	23289113	127429204	8105543	20	20625											
ITPR2	3709	broad.mit.edu	37	chr12	26714879	26714879	+	Frame_Shift_Del	DEL	T	T	-																															ctggaatggcaattccacgaTtttttgctgaaaaagaaaga																								rs369274314		TCGA-XJ-A83G-01A-11D-A34U-08	TCGA-XJ-A83G-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8130ce33-1338-4bc9-b812-7060168d762a	4c90ef8d-c640-4c67-bafa-12fb155781aa	g.chr12:26714879delT	ENST00000381340.3	-	35	5053	c.4637delA	c.(4636-4638)aatfs	p.N1546fs		NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	1546					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|cellular response to cAMP (GO:0071320)|cellular response to ethanol (GO:0071361)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|regulation of insulin secretion (GO:0050796)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	cell cortex (GO:0005938)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|receptor complex (GO:0043235)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion transmembrane transporter activity (GO:0015085)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|phosphatidylinositol binding (GO:0035091)		ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)				Caffeine(DB00201)	AATTCCACGATTTTTTGCTGA	0.318																																						ENST00000381340.3																		ETV6/ITPR2(2)	0				biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125						c.(4636-4638)atfs		inositol 1,4,5-trisphosphate receptor, type 2							41	39	40					12																	26714879		1815	4070	5885	SO:0001589	frameshift_variant	3709				activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity	g.chr12:26714879delT	D26350	CCDS41764.1	12p11.23	2014-07-18	2011-04-28		ENSG00000123104	ENSG00000123104		"Ion channels / Inositol triphosphate receptors"	6181	protein-coding gene	gene with protein product	"cilia and flagella associated protein 48"	600144	"inositol 1,4,5-triphosphate receptor, type 2"			8081734	Standard	XM_006719064		Approved	IP3R2, CFAP48	uc001rhg.3	Q14571	OTTHUMG00000169181	ENST00000381340.3:c.4637delA	12.37:g.26714879delT	ENSP00000370744:p.Asn1546fs						p.N1546fs	NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN			35	5053	-	Colorectal(261;0.0847)		1546					O94773	Frame_Shift_Del	DEL	ENST00000381340.3	37	c.4637delA	CCDS41764.1																																																																																				0.318	ITPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402732.1	NM_002223		7	26						7	26	---	---	---	---	-	26714879	T	-	26714879	7	5	427	1	0	1	0	1	0	0	0	0	7921	1493	52	0	3560	0	ITPR2	12	26714879	Frame_Shift_Del	DEL	T	TCGA-XJ-A83G-01A-11D-A34U-08		26714879	107137016	21	20626											
DDX23	9416	broad.mit.edu	37	chr12	49233652	49233652	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cctcagcttcttcctcagccTttttcttggccagaagctcc	5	14	6	16	0	4	1	2	0	2	1	6	1	6	1	5	1	3	2	5	1	1	5			TCGA-XJ-A83G-01A-11D-A34U-08	TCGA-XJ-A83G-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8130ce33-1338-4bc9-b812-7060168d762a	4c90ef8d-c640-4c67-bafa-12fb155781aa	g.chr12:49233652T>C	ENST00000308025.3	-	5	534	c.455A>G	c.(454-456)aAg>aGg	p.K152R	DDX23_ENST00000553182.1_5'UTR	NM_004818.2	NP_004809.2	Q9BUQ8	DDX23_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 23	152	Glu-rich.				ATP catabolic process (GO:0006200)|cis assembly of pre-catalytic spliceosome (GO:0000354)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|U5 snRNP (GO:0005682)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|poly(A) RNA binding (GO:0044822)			NS(1)|cervix(1)|kidney(4)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(3)	36						TTCCTCAGCCTTTTTCTTGGC	0.463																																						ENST00000308025.3																			0				NS(1)|cervix(1)|kidney(4)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(3)	36						c.(454-456)aAg>aGg		DEAD (Asp-Glu-Ala-Asp) box polypeptide 23							109	103	105					12																	49233652		2203	4300	6503	SO:0001583	missense	9416					catalytic step 2 spliceosome|nucleoplasm|U5 snRNP	ATP binding|ATP-dependent RNA helicase activity|nucleic acid binding|protein binding	g.chr12:49233652T>C	AF026402	CCDS8770.1	12q13.11	2013-07-16				ENSG00000174243		"DEAD-boxes"	17347	protein-coding gene	gene with protein product		612172	"PRP28 homolog, yeast"			9409622, 9539711	Standard	NM_004818		Approved	prp28, U5-100K, PRPF28, SNRNP100	uc001rsm.3	Q9BUQ8		ENST00000308025.3:c.455A>G	12.37:g.49233652T>C	ENSP00000310723:p.Lys152Arg					DDX23_ENST00000553182.1_5'UTR	p.K152R	NM_004818.2	NP_004809.2	Q9BUQ8	DDX23_HUMAN			5	534	-			152			Glu-rich.		B2R600|B4DH15|O43188	Missense_Mutation	SNP	ENST00000308025.3	37	c.455A>G	CCDS8770.1	.	.	.	.	.	.	.	.	.	.	T	22.3	4.276770	0.80580	.	.	ENSG00000174243	ENST00000308025;ENST00000552512	T	0.22134	1.97	6.02	6.02	0.97574	.	0.000000	0.85682	D	0.000000	T	0.27278	0.0669	N	0.16743	0.435	0.80722	D	1	P	0.52842	0.956	P	0.62184	0.899	T	0.05533	-1.0879	9	.	.	.	-22.6793	14.1164	0.65156	0.0:0.0:0.0:1.0	.	152	Q9BUQ8	DDX23_HUMAN	R	152	ENSP00000310723:K152R	.	K	-	2	0	DDX23	47519919	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.188000	0.77739	2.321000	0.78463	0.529000	0.55759	AAG		0.463	DDX23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408897.2	NM_004818		3	38	0	0	0	1	0	3	38					C	49233652	T	C	49233652	3	2	427	1	0	0	0	0	1	0	0	0	4350	1609	56	4	2059	4	DDX23	12	49233652	Missense_Mutation	SNP	T	TCGA-XJ-A83G-01A-11D-A34U-08	22518773	49233652	84618243	22	20627											
ACAD10	80724	broad.mit.edu	37	chr12	112186219	112186219	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ctgtgctcttggttcccatgGataccccagggataaaaatc	10	11	9	11	0	1	0	0	0	1	0	3	2	2	2	3	3	2	2	3	3	4	4			TCGA-XJ-A83G-01A-11D-A34U-08	TCGA-XJ-A83G-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8130ce33-1338-4bc9-b812-7060168d762a	4c90ef8d-c640-4c67-bafa-12fb155781aa	g.chr12:112186219G>T	ENST00000313698.4	+	17	2739	c.2584G>T	c.(2584-2586)Gat>Tat	p.D862Y	ACAD10_ENST00000413681.3_3'UTR|ACAD10_ENST00000392636.2_Missense_Mutation_p.D464Y|ACAD10_ENST00000455480.2_Missense_Mutation_p.D893Y	NM_025247.5	NP_079523.3	Q6JQN1	ACD10_HUMAN	acyl-CoA dehydrogenase family, member 10	862						mitochondrion (GO:0005739)	acyl-CoA dehydrogenase activity (GO:0003995)|flavin adenine dinucleotide binding (GO:0050660)|hydrolase activity (GO:0016787)|transferase activity, transferring phosphorus-containing groups (GO:0016772)			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(17)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(5)	47						GGTTCCCATGGATACCCCAGG	0.562																																						ENST00000455480.2																			0				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(17)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(5)	47						c.(2677-2679)Gat>Tat		acyl-CoA dehydrogenase family, member 10							92	91	91					12																	112186219		2203	4300	6503	SO:0001583	missense	80724						acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|hydrolase activity|transferase activity, transferring phosphorus-containing groups	g.chr12:112186219G>T	AY323912	CCDS31903.1, CCDS44973.1	12q24.12	2012-10-02	2010-04-30		ENSG00000111271	ENSG00000111271			21597	protein-coding gene	gene with protein product		611181	"acyl-Coenzyme A dehydrogenase family, member 10"			15560374	Standard	NM_025247		Approved	MGC5601	uc009zvx.3	Q6JQN1	OTTHUMG00000169602	ENST00000313698.4:c.2584G>T	12.37:g.112186219G>T	ENSP00000325137:p.Asp862Tyr					ACAD10_ENST00000313698.4_Missense_Mutation_p.D862Y|ACAD10_ENST00000413681.3_3'UTR|ACAD10_ENST00000392636.2_Missense_Mutation_p.D464Y	p.D893Y	NM_001136538.1	NP_001130010.1	Q6JQN1	ACD10_HUMAN			18	2854	+			862					G3XAJ0|Q8N828|Q8NAP2|Q96BX5	Missense_Mutation	SNP	ENST00000313698.4	37	c.2677G>T	CCDS31903.1	.	.	.	.	.	.	.	.	.	.	G	25.3	4.624630	0.87560	.	.	ENSG00000111271	ENST00000392636;ENST00000413681;ENST00000455480;ENST00000313698	D;D;D	0.99136	-5.47;-5.47;-5.47	5.87	5.87	0.94306	Acyl-CoA dehydrogenase/oxidase (1);Acyl-CoA oxidase/dehydrogenase, central domain (1);	0.410530	0.25283	N	0.031800	D	0.99471	0.9812	M	0.93062	3.375	0.58432	D	0.999993	D;D;D	0.76494	0.999;0.996;0.999	D;D;D	0.70935	0.971;0.91;0.939	D	0.98903	1.0777	10	0.87932	D	0	.	18.9713	0.92716	0.0:0.0:1.0:0.0	.	893;862;862	G3XAJ0;Q6JQN1;Q6JQN1-2	.;ACD10_HUMAN;.	Y	464;862;893;862	ENSP00000376411:D464Y;ENSP00000389813:D893Y;ENSP00000325137:D862Y	ENSP00000325137:D862Y	D	+	1	0	ACAD10	110670602	1.000000	0.71417	0.997000	0.53966	0.947000	0.59692	7.084000	0.76866	2.778000	0.95560	0.655000	0.94253	GAT		0.562	ACAD10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368307.1	NM_025247		17	51	1	0	3.32936e-07	1	3.63203e-07	17	51					T	112186219	G	T	112186219	3	4	427	1	0	0	0	0	1	0	0	0	108	1174	41	5	2743	5	ACAD10	12	112186219	Missense_Mutation	SNP	G	TCGA-XJ-A83G-01A-11D-A34U-08	62952567	112186219	21665676	23	20628											
AKAP6	9472	broad.mit.edu	37	chr14	33292870	33292870	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	attcaaatactgctggcaagGaatttgtttcccaagatgtt	12	14	8	7	0	1	1	1	0	0	1	2	2	2	2	1	2	2	4	1	2	5	5			TCGA-XJ-A83G-01A-11D-A34U-08	TCGA-XJ-A83G-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8130ce33-1338-4bc9-b812-7060168d762a	4c90ef8d-c640-4c67-bafa-12fb155781aa	g.chr14:33292870G>A	ENST00000280979.4	+	13	6021	c.5851G>A	c.(5851-5853)Gaa>Aaa	p.E1951K	AKAP6_ENST00000557272.1_Intron	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6	1951					action potential (GO:0001508)|cAMP-mediated signaling (GO:0019933)|cellular response to cAMP (GO:0071320)|cellular response to cytokine stimulus (GO:0071345)|negative regulation of cAMP biosynthetic process (GO:0030818)|positive regulation of calcineurin-NFAT signaling cascade (GO:0070886)|positive regulation of cell growth (GO:0030307)|positive regulation of cell growth involved in cardiac muscle cell development (GO:0061051)|positive regulation of delayed rectifier potassium channel activity (GO:1902261)|positive regulation of NFAT protein import into nucleus (GO:0051533)|positive regulation of potassium ion transmembrane transport (GO:1901381)|positive regulation of protein phosphatase type 2B activity (GO:0032514)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|protein targeting (GO:0006605)|regulation of membrane repolarization (GO:0060306)|regulation of protein kinase A signaling (GO:0010738)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)	calcium channel complex (GO:0034704)|caveola (GO:0005901)|cytoplasm (GO:0005737)|intercalated disc (GO:0014704)|junctional sarcoplasmic reticulum membrane (GO:0014701)|nuclear envelope (GO:0005635)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)	adenylate cyclase binding (GO:0008179)|ion channel binding (GO:0044325)|protein anchor (GO:0043495)|protein complex scaffold (GO:0032947)|protein kinase A binding (GO:0051018)|protein kinase A regulatory subunit binding (GO:0034237)			NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		TGCTGGCAAGGAATTTGTTTC	0.378																																					Melanoma(49;821 1200 7288 13647 42351)	ENST00000280979.4																			0				NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122						c.(5851-5853)Gaa>Aaa		A kinase (PRKA) anchor protein 6							64	66	65					14																	33292870		2203	4300	6503	SO:0001583	missense	9472				protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding	g.chr14:33292870G>A	AB002309	CCDS9644.1	14q12	2008-08-11			ENSG00000151320	ENSG00000151320		"A-kinase anchor proteins"	376	protein-coding gene	gene with protein product	"protein kinase A anchoring protein 6"	604691				7721854, 9205841	Standard	NM_004274		Approved	KIAA0311, mAKAP, AKAP100, PRKA6, ADAP6	uc001wrq.3	Q13023	OTTHUMG00000140207	ENST00000280979.4:c.5851G>A	14.37:g.33292870G>A	ENSP00000280979:p.Glu1951Lys					AKAP6_ENST00000557272.1_Intron	p.E1951K	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)	13	6021	+	Breast(36;0.0388)|Prostate(35;0.15)		1951					A7E242|A7E2D4|O15028	Missense_Mutation	SNP	ENST00000280979.4	37	c.5851G>A	CCDS9644.1	.	.	.	.	.	.	.	.	.	.	G	5.773	0.327069	0.10900	.	.	ENSG00000151320	ENST00000280979	T	0.51574	0.7	5.96	4.12	0.48240	.	0.391101	0.27362	N	0.019715	T	0.46347	0.1388	M	0.62723	1.935	0.38765	D	0.954412	B	0.23490	0.086	B	0.18263	0.021	T	0.37572	-0.9700	10	0.39692	T	0.17	-2.2708	14.9179	0.70812	0.0607:0.1056:0.8337:0.0	.	1951	Q13023	AKAP6_HUMAN	K	1951	ENSP00000280979:E1951K	ENSP00000280979:E1951K	E	+	1	0	AKAP6	32362621	1.000000	0.71417	0.009000	0.14445	0.002000	0.02628	2.439000	0.44846	0.429000	0.26202	-2.151000	0.00333	GAA		0.378	AKAP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276617.2	NM_004274		15	73	0	0	0	1	0	15	73					A	33292870	G	A	33292870	3	1	427	1	0	0	0	0	1	0	0	0	455	1175	41	3	5897	3	AKAP6	14	33292870	Missense_Mutation	SNP	G	TCGA-XJ-A83G-01A-11D-A34U-08		33292870	74056670	24	20629											
PAPLN	89932	broad.mit.edu	37	chr14	73719406	73719406	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atcgaccatgaggcctacccCgaccacatgtgccagcgcca	10	5	9	17	3	0	1	0	1	0	0	1	3	0	1	7	1	3	0	7	1	1	1			TCGA-XJ-A83G-01A-11D-A34U-08	TCGA-XJ-A83G-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8130ce33-1338-4bc9-b812-7060168d762a	4c90ef8d-c640-4c67-bafa-12fb155781aa	g.chr14:73719406C>T	ENST00000554301.1	+	10	1180	c.1017C>T	c.(1015-1017)ccC>ccT	p.P339P	PAPLN_ENST00000555445.1_Silent_p.P339P|PAPLN_ENST00000427855.1_Silent_p.P339P|PAPLN_ENST00000340738.5_Silent_p.P312P|PAPLN_ENST00000381166.3_Silent_p.P339P			O95428	PPN_HUMAN	papilin, proteoglycan-like sulfated glycoprotein	339	TSP type-1 2. {ECO:0000255|PROSITE- ProRule:PRU00210}.					basement membrane (GO:0005604)	metalloendopeptidase activity (GO:0004222)|serine-type endopeptidase inhibitor activity (GO:0004867)|zinc ion binding (GO:0008270)			NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(3)	42				BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.0468)		AGGCCTACCCCGACCACATGT	0.647																																						ENST00000427855.1																			0				NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(3)	42						c.(1015-1017)ccC>ccT		papilin, proteoglycan-like sulfated glycoprotein							75	75	75					14																	73719406		2203	4299	6502	SO:0001819	synonymous_variant	89932					proteinaceous extracellular matrix	metalloendopeptidase activity|serine-type endopeptidase inhibitor activity|zinc ion binding	g.chr14:73719406C>T	BC042057	CCDS32114.1	14q24.2	2013-01-11				ENSG00000100767		"Immunoglobulin superfamily / I-set domain containing"	19262	protein-coding gene	gene with protein product						11076767, 19734141	Standard	NM_173462		Approved	MGC50452	uc001xnw.4	O95428		ENST00000554301.1:c.1017C>T	14.37:g.73719406C>T						PAPLN_ENST00000555445.1_Silent_p.P339P|PAPLN_ENST00000554301.1_Silent_p.P339P|PAPLN_ENST00000340738.5_Silent_p.P312P|PAPLN_ENST00000381166.3_Silent_p.P339P	p.P339P			O95428	PPN_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.0468)	11	1119	+			339			TSP type-1 2.		B4DES8|B4DGE6|Q659F2|Q6UXJ4|Q6ZNM1|Q6ZUJ0|Q7Z681|Q8IVU0	Silent	SNP	ENST00000554301.1	37	c.1017C>T																																																																																					0.647	PAPLN-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000413182.1	NM_173462		12	50	0	0	0	1	0	12	50					T	73719406	C	T	73719406	2	4	427	1	0	0	0	0	0	0	0	1	11428	639	23	2		2	PAPLN	14	73719406	Silent	SNP	C	TCGA-XJ-A83G-01A-11D-A34U-08	40426536	73719406	33630134	25	20630											
IGDCC3	9543	broad.mit.edu	37	chr15	65627682	65627682	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggatactggcgatgtttgagGccacacagtggaagatgcca	11	8	14	8	1	0	2	0	1	0	1	0	5	0	4	2	4	2	1	2	4	2	2			TCGA-XJ-A83G-01A-11D-A34U-08	TCGA-XJ-A83G-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8130ce33-1338-4bc9-b812-7060168d762a	4c90ef8d-c640-4c67-bafa-12fb155781aa	g.chr15:65627682G>A	ENST00000327987.4	-	4	883	c.632C>T	c.(631-633)gCc>gTc	p.A211V	IGDCC3_ENST00000559231.1_5'Flank	NM_004884.3	NP_004875.2	Q8IVU1	IGDC3_HUMAN	immunoglobulin superfamily, DCC subclass, member 3	211	Ig-like C2-type 2.				neuromuscular process controlling balance (GO:0050885)	integral component of plasma membrane (GO:0005887)				breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(9)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						GATGTTTGAGGCCACACAGTG	0.597																																						ENST00000327987.4																			0				breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(9)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						c.(631-633)gCc>gTc		immunoglobulin superfamily, DCC subclass, member 3							167	140	149					15																	65627682		2201	4299	6500	SO:0001583	missense	9543							g.chr15:65627682G>A	AF063936	CCDS10205.1	15q22.3-q23	2013-02-11	2009-01-08	2009-01-08	ENSG00000174498	ENSG00000174498		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	9700	protein-coding gene	gene with protein product		604184	"putative neuronal cell adhesion molecule"	PUNC		9922388	Standard	NM_004884		Approved	HsT18880	uc002aos.2	Q8IVU1	OTTHUMG00000133137	ENST00000327987.4:c.632C>T	15.37:g.65627682G>A	ENSP00000332773:p.Ala211Val						p.A211V	NM_004884.3	NP_004875.2	Q8IVU1	IGDC3_HUMAN			4	883	-			211			Ig-like C2-type 2.		O95215	Missense_Mutation	SNP	ENST00000327987.4	37	c.632C>T	CCDS10205.1	.	.	.	.	.	.	.	.	.	.	G	29.4	5.000295	0.93227	.	.	ENSG00000174498	ENST00000327987;ENST00000443278	T	0.72505	-0.66	5.51	5.51	0.81932	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.86347	0.5911	M	0.88842	2.985	0.80722	D	1	D	0.67145	0.996	D	0.68353	0.957	D	0.87519	0.2445	10	0.49607	T	0.09	-37.7221	18.1992	0.89832	0.0:0.0:1.0:0.0	.	211	Q8IVU1	IGDC3_HUMAN	V	211;74	ENSP00000332773:A211V	ENSP00000332773:A211V	A	-	2	0	IGDCC3	63414735	1.000000	0.71417	1.000000	0.80357	0.520000	0.34377	9.478000	0.97927	2.568000	0.86640	0.655000	0.94253	GCC		0.597	IGDCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256826.1	NM_004884		8	49	0	0	0	1	0	8	49					A	65627682	G	A	65627682	3	1	427	1	0	0	0	0	1	0	0	0	7568	1203	42	3	1856	3	IGDCC3	15	65627682	Missense_Mutation	SNP	G	TCGA-XJ-A83G-01A-11D-A34U-08		65627682	36903710	26	20631											
STRA6	64220	broad.mit.edu	37	chr15	74472523	74472523	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaccccagcgagccctgccGcggctggccccgggcctagc	5	3	14	19	4	0	1	0	0	0	1	0	2	0	1	7	3	4	1	7	3	1	1	rs551686188		TCGA-XJ-A83G-01A-11D-A34U-08	TCGA-XJ-A83G-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8130ce33-1338-4bc9-b812-7060168d762a	4c90ef8d-c640-4c67-bafa-12fb155781aa	g.chr15:74472523G>A	ENST00000323940.5	-	19	2147	c.1902C>T	c.(1900-1902)cgC>cgT	p.R634R	STRA6_ENST00000574439.1_5'UTR|RP11-665J16.1_ENST00000561647.1_RNA|STRA6_ENST00000416286.3_Silent_p.R626R|STRA6_ENST00000449139.2_Silent_p.R634R|STRA6_ENST00000423167.2_Silent_p.R625R|STRA6_ENST00000535552.1_Silent_p.R671R|STRA6_ENST00000563965.1_Silent_p.R673R|STRA6_ENST00000574278.1_Silent_p.R649R|STRA6_ENST00000395105.4_Silent_p.R634R	NM_001142617.1|NM_001142618.1|NM_001142619.1	NP_001136089.1|NP_001136090.1|NP_001136091.1	Q9BX79	STRA6_HUMAN	stimulated by retinoic acid 6	634					adrenal gland development (GO:0030325)|alveolar primary septum development (GO:0061143)|artery morphogenesis (GO:0048844)|blood vessel development (GO:0001568)|cognition (GO:0050890)|developmental growth (GO:0048589)|diaphragm development (GO:0060539)|digestive tract morphogenesis (GO:0048546)|ductus arteriosus closure (GO:0097070)|ear development (GO:0043583)|embryonic camera-type eye formation (GO:0060900)|embryonic digestive tract development (GO:0048566)|eyelid development in camera-type eye (GO:0061029)|face morphogenesis (GO:0060325)|feeding behavior (GO:0007631)|female genitalia development (GO:0030540)|head development (GO:0060322)|head morphogenesis (GO:0060323)|heart development (GO:0007507)|kidney development (GO:0001822)|learning (GO:0007612)|lung alveolus development (GO:0048286)|lung development (GO:0030324)|lung vasculature development (GO:0060426)|neuromuscular process (GO:0050905)|nose morphogenesis (GO:0043585)|paramesonephric duct development (GO:0061205)|phototransduction, visible light (GO:0007603)|positive regulation of behavior (GO:0048520)|positive regulation of JAK-STAT cascade (GO:0046427)|pulmonary artery morphogenesis (GO:0061156)|pulmonary valve morphogenesis (GO:0003184)|retinoic acid metabolic process (GO:0042573)|retinoid metabolic process (GO:0001523)|retinol transport (GO:0034633)|smooth muscle tissue development (GO:0048745)|uterus morphogenesis (GO:0061038)|ventricular septum development (GO:0003281)|vitamin A import (GO:0071939)|vocal learning (GO:0042297)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	receptor activity (GO:0004872)|vitamin transporter activity (GO:0051183)			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(4)|lung(5)|skin(1)|stomach(2)	26						GAGCCCTGCCGCGGCTGGCCC	0.632																																						ENST00000323940.5																			0				NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(4)|lung(5)|skin(1)|stomach(2)	26						c.(1900-1902)cgC>cgT		stimulated by retinoic acid 6							92	105	101					15																	74472523		2198	4296	6494	SO:0001819	synonymous_variant	64220				adrenal gland development|alveolar primary septum development|developmental growth|diaphragm development|digestive tract morphogenesis|ear development|embryonic camera-type eye formation|embryonic digestive tract development|eyelid development in camera-type eye|face morphogenesis|feeding behavior|female genitalia development|kidney development|lung vasculature development|neuromuscular process|nose morphogenesis|paramesonephric duct development|positive regulation of behavior|pulmonary artery morphogenesis|pulmonary valve morphogenesis|smooth muscle tissue development|transport|uterus morphogenesis|ventricular septum development|vocal learning	integral to membrane|plasma membrane|protein complex	receptor activity	g.chr15:74472523G>A	AF352728	CCDS10261.1, CCDS45301.1, CCDS45302.1, CCDS55973.1, CCDS55974.1, CCDS58387.1	15q24.1	2014-07-14	2012-12-07		ENSG00000137868	ENSG00000137868			30650	protein-coding gene	gene with protein product	"retinol binding protein 4 receptor"	610745	"stimulated by retinoic acid gene 6 homolog (mouse)", "stimulated by retinoic acid 6 homolog (mouse)"			17255476, 17273977	Standard	NM_022369		Approved	FLJ12541	uc002axj.3	Q9BX79	OTTHUMG00000138998	ENST00000323940.5:c.1902C>T	15.37:g.74472523G>A						STRA6_ENST00000574278.1_Silent_p.R649R|STRA6_ENST00000574439.1_5'UTR|STRA6_ENST00000449139.2_Silent_p.R634R|STRA6_ENST00000563965.1_Silent_p.R673R|STRA6_ENST00000535552.1_Silent_p.R671R|STRA6_ENST00000423167.2_Silent_p.R625R|STRA6_ENST00000416286.3_Silent_p.R626R|STRA6_ENST00000395105.4_Silent_p.R634R	p.R634R	NM_001142617.1|NM_001142618.1|NM_001142619.1	NP_001136089.1|NP_001136090.1|NP_001136091.1	Q9BX79	STRA6_HUMAN			19	2147	-			634					A8K7F1|B7Z5M9|B7Z862|D3DW54|F5GYI8|I3L1G8|Q6PJF8|Q71RB9|Q7L9G1|Q7Z3U9|Q8TB21|Q9BX78|Q9H9U8	Silent	SNP	ENST00000323940.5	37	c.1902C>T	CCDS10261.1																																																																																				0.632	STRA6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000272891.1			24	100	0	0	0	1	0	24	100					A	74472523	G	A	74472523	2	1	427	1	0	0	0	0	0	0	0	1	15321	1074	38	1		1	STRA6	15	74472523	Silent	SNP	G	TCGA-XJ-A83G-01A-11D-A34U-08	8844841	74472523	28058869	27	20632											
ACSBG1	23205	broad.mit.edu	37	chr15	78473256	78473256	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgatgtgggctccacctccCgcagcgtgttcaccaggctc	5	9	12	15	2	1	1	1	1	0	0	4	1	3	1	4	2	1	4	4	2	0	1	rs143166464		TCGA-XJ-A83G-01A-11D-A34U-08	TCGA-XJ-A83G-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8130ce33-1338-4bc9-b812-7060168d762a	4c90ef8d-c640-4c67-bafa-12fb155781aa	g.chr15:78473256C>T	ENST00000258873.4	-	9	1299	c.1094G>A	c.(1093-1095)cGg>cAg	p.R365Q	ACSBG1_ENST00000541759.1_Missense_Mutation_p.R123Q|ACSBG1_ENST00000560817.1_Missense_Mutation_p.R123Q	NM_001199377.1|NM_015162.4	NP_001186306.1|NP_055977.3	Q96GR2	ACBG1_HUMAN	acyl-CoA synthetase bubblegum family member 1	365					long-chain fatty acid metabolic process (GO:0001676)|myelination (GO:0042552)|ovarian follicle atresia (GO:0001552)|response to glucocorticoid (GO:0051384)|very long-chain fatty acid metabolic process (GO:0000038)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)	ATP binding (GO:0005524)|long-chain fatty acid-CoA ligase activity (GO:0004467)|very long-chain fatty acid-CoA ligase activity (GO:0031957)			endometrium(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	37						CTCCACCTCCCGCAGCGTGTT	0.647																																						ENST00000258873.4																			0				endometrium(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	37						c.(1093-1095)cGg>cAg		acyl-CoA synthetase bubblegum family member 1		C	GLN/ARG,GLN/ARG	1,4391	2.1+/-5.4	0,1,2195	72	64	66		1082,1094	4.6	1	15	dbSNP_134	66	0,8586		0,0,4293	no	missense,missense	ACSBG1	NM_001199377.1,NM_015162.4	43,43	0,1,6488	TT,TC,CC		0.0,0.0228,0.0077	possibly-damaging,possibly-damaging	361/721,365/725	78473256	1,12977	2196	4293	6489	SO:0001583	missense	23205				long-chain fatty acid metabolic process|myelination|very long-chain fatty acid metabolic process	cytoplasmic membrane-bounded vesicle|endoplasmic reticulum|microsome	ATP binding|long-chain fatty acid-CoA ligase activity|very long-chain fatty acid-CoA ligase activity	g.chr15:78473256C>T	AB014531	CCDS10298.1	15q23-q24	2006-02-09			ENSG00000103740	ENSG00000103740		"Acyl-CoA synthetase family"	29567	protein-coding gene	gene with protein product	"bubblegum", "very long-chain acyl-CoA synthetase", "lipidosin"	614362				9734811, 10954726	Standard	NM_015162		Approved	BGM, FLJ30320, MGC14352, BG1, KIAA0631, hBG1, hsBG	uc002bdh.3	Q96GR2	OTTHUMG00000143734	ENST00000258873.4:c.1094G>A	15.37:g.78473256C>T	ENSP00000258873:p.Arg365Gln					ACSBG1_ENST00000541759.1_Missense_Mutation_p.R123Q|ACSBG1_ENST00000560817.1_Missense_Mutation_p.R123Q	p.R365Q	NM_001199377.1|NM_015162.4	NP_001186306.1|NP_055977.3	Q96GR2	ACBG1_HUMAN			9	1299	-			365					B2RB61|O75126|Q76N27|Q9HC26	Missense_Mutation	SNP	ENST00000258873.4	37	c.1094G>A	CCDS10298.1	.	.	.	.	.	.	.	.	.	.	C	13.13	2.146511	0.37923	2.28E-4	0.0	ENSG00000103740	ENST00000258873;ENST00000541759	T;T	0.39592	1.07;1.07	5.48	4.55	0.56014	AMP-dependent synthetase/ligase (1);	0.126462	0.49305	D	0.000160	T	0.21718	0.0523	N	0.21097	0.63	0.33430	D	0.581016	P;B	0.41947	0.766;0.112	B;B	0.35770	0.21;0.03	T	0.19095	-1.0316	10	0.05833	T	0.94	-47.3661	10.6726	0.45768	0.0:0.852:0.0:0.148	.	361;365	B7Z2Y6;Q96GR2	.;ACBG1_HUMAN	Q	365;123	ENSP00000258873:R365Q;ENSP00000439955:R123Q	ENSP00000258873:R365Q	R	-	2	0	ACSBG1	76260311	0.990000	0.36364	1.000000	0.80357	0.991000	0.79684	1.240000	0.32731	2.576000	0.86940	0.655000	0.94253	CGG		0.647	ACSBG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000289802.2	NM_015162		10	24	0	0	0	1	0	10	24					T	78473256	C	T	78473256	3	4	427	1	0	0	0	0	1	0	0	0	173	652	23	2	1104	2	ACSBG1	15	78473256	Missense_Mutation	SNP	C	TCGA-XJ-A83G-01A-11D-A34U-08	4000733	78473256	24058136	28	20633											
KIF1C	10749	broad.mit.edu	37	chr17	4927021	4927021	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggggccggggcggggggctgCgcaggcccccagcccgcttt	2	4	20	15	4	0	0	0	0	0	0	0	0	0	0	4	8	2	3	4	8	0	1			TCGA-XJ-A83G-01A-11D-A34U-08	TCGA-XJ-A83G-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8130ce33-1338-4bc9-b812-7060168d762a	4c90ef8d-c640-4c67-bafa-12fb155781aa	g.chr17:4927021C>T	ENST00000320785.5	+	23	3244	c.2887C>T	c.(2887-2889)Cgc>Tgc	p.R963C		NM_006612.5	NP_006603.2	O43896	KIF1C_HUMAN	kinesin family member 1C	963					ATP catabolic process (GO:0006200)|cell death (GO:0008219)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|motor activity (GO:0003774)|plus-end-directed microtubule motor activity (GO:0008574)|poly(A) RNA binding (GO:0044822)	p.R963C(1)		NS(2)|breast(4)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|skin(1)|urinary_tract(3)	30						CGGGGGGCTGCGCAGGCCCCC	0.697																																					Melanoma(96;1023 1447 10250 19259 33730)	ENST00000320785.5																			1	Substitution - Missense(1)	p.R963C(1)	large_intestine(1)	NS(2)|breast(4)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|skin(1)|urinary_tract(3)	30						c.(2887-2889)Cgc>Tgc		kinesin family member 1C							11	14	13					17																	4927021		2114	4142	6256	SO:0001583	missense	10749				microtubule-based movement|retrograde vesicle-mediated transport, Golgi to ER	endoplasmic reticulum|Golgi apparatus|microtubule	ATP binding|microtubule motor activity	g.chr17:4927021C>T	U91329	CCDS11065.1	17p13.2	2014-03-03			ENSG00000129250	ENSG00000129250		"Kinesins"	6317	protein-coding gene	gene with protein product		603060	"spastic ataxia 2 (autosomal recessive)"	SAX2		9685376, 24319291, 24482476	Standard	NM_006612		Approved	SPAX2, SPG58	uc002gan.2	O43896	OTTHUMG00000099451	ENST00000320785.5:c.2887C>T	17.37:g.4927021C>T	ENSP00000320821:p.Arg963Cys						p.R963C	NM_006612.5	NP_006603.2	O43896	KIF1C_HUMAN			23	3244	+			963					D3DTL6|O75186|Q5U618	Missense_Mutation	SNP	ENST00000320785.5	37	c.2887C>T	CCDS11065.1	.	.	.	.	.	.	.	.	.	.	C	16.44	3.123791	0.56613	.	.	ENSG00000129250	ENST00000320785	T	0.74106	-0.81	4.93	4.93	0.64822	.	.	.	.	.	T	0.71517	0.3349	L	0.29908	0.895	0.46437	D	0.999045	D	0.76494	0.999	P	0.50082	0.63	T	0.75918	-0.3148	9	0.72032	D	0.01	.	15.6642	0.77213	0.0:1.0:0.0:0.0	.	963	O43896	KIF1C_HUMAN	C	963	ENSP00000320821:R963C	ENSP00000320821:R963C	R	+	1	0	KIF1C	4867745	0.947000	0.32204	1.000000	0.80357	0.969000	0.65631	1.993000	0.40747	2.558000	0.86282	0.655000	0.94253	CGC		0.697	KIF1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216916.1			7	19	0	0	0	1	0	7	19					T	4927021	C	T	4927021	3	4	427	1	0	0	0	0	1	0	0	0	8285	768	27	1	2969	1	KIF1C	17	4927021	Missense_Mutation	SNP	C	TCGA-XJ-A83G-01A-11D-A34U-08		4927021	76268189	29	20634											
MYH4	4622	broad.mit.edu	37	chr17	10353814	10353814	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgctggatggcgtccgtctcGtacttggtcctccactgggc	3	11	13	14	4	1	0	0	0	1	0	5	1	4	1	3	4	1	2	3	4	1	2	rs375911403		TCGA-XJ-A83G-01A-11D-A34U-08	TCGA-XJ-A83G-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8130ce33-1338-4bc9-b812-7060168d762a	4c90ef8d-c640-4c67-bafa-12fb155781aa	g.chr17:10353814G>A	ENST00000255381.2	-	30	4247	c.4137C>T	c.(4135-4137)taC>taT	p.Y1379Y	CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000399342.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	1379					actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|membrane organization (GO:0061024)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|response to activity (GO:0014823)	muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|microfilament motor activity (GO:0000146)			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						CGTCCGTCTCGTACTTGGTCC	0.557																																						ENST00000255381.2																			0				NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						c.(4135-4137)taC>taT		myosin, heavy chain 4, skeletal muscle							178	156	163					17																	10353814		2203	4300	6503	SO:0001819	synonymous_variant	4622				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr17:10353814G>A		CCDS11154.1	17p13.1	2013-09-19	2006-09-29		ENSG00000264424	ENSG00000264424		"Myosins / Myosin superfamily : Class II"	7574	protein-coding gene	gene with protein product		160742	"myosin, heavy polypeptide 4, skeletal muscle"			8518795	Standard	NM_017533		Approved	MYH2B, MyHC-2B, MyHC-IIb	uc002gmn.3	Q9Y623	OTTHUMG00000130365	ENST00000255381.2:c.4137C>T	17.37:g.10353814G>A						CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	p.Y1379Y	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN			30	4247	-			1379						Silent	SNP	ENST00000255381.2	37	c.4137C>T	CCDS11154.1																																																																																				0.557	MYH4-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252731.1	NM_017533		5	116	0	0	0	1	0	5	116					A	10353814	G	A	10353814	2	1	427	1	0	0	0	0	0	0	0	1	10037	1140	40	1		1	MYH4	17	10353814	Silent	SNP	G	TCGA-XJ-A83G-01A-11D-A34U-08	5426793	10353814	70841396	30	20635											
SPOP	8405	broad.mit.edu	37	chr17	47696432	47696432	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgaatttcttgaatccccAgtctttgccttgcacaaacc	10	13	6	12	0	2	2	0	2	2	0	3	3	3	2	4	0	3	1	4	0	3	4			TCGA-XJ-A83G-01A-11D-A34U-08	TCGA-XJ-A83G-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8130ce33-1338-4bc9-b812-7060168d762a	4c90ef8d-c640-4c67-bafa-12fb155781aa	g.chr17:47696432A>C	ENST00000393328.2	-	6	756	c.391T>G	c.(391-393)Tgg>Ggg	p.W131G	SPOP_ENST00000503676.1_Missense_Mutation_p.W131G|SPOP_ENST00000347630.2_Missense_Mutation_p.W131G|SPOP_ENST00000513080.1_5'Flank|SPOP_ENST00000393331.3_Missense_Mutation_p.W131G|SPOP_ENST00000504102.1_Missense_Mutation_p.W131G	NM_003563.3	NP_003554.1	O43791	SPOP_HUMAN	speckle-type POZ protein	131	Important for binding substrate proteins.|MATH. {ECO:0000255|PROSITE- ProRule:PRU00129}.|Required for nuclear localization.				glucose homeostasis (GO:0042593)|positive regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902237)|positive regulation of type B pancreatic cell apoptotic process (GO:2000676)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	Cul3-RING ubiquitin ligase complex (GO:0031463)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	ubiquitin protein ligase binding (GO:0031625)	p.W131G(2)|p.W131R(1)		endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						TTGAATCCCCAGTCTTTGCCT	0.458										Prostate(2;0.17)																												ENST00000393331.3																			3	Substitution - Missense(3)	p.W131G(2)|p.W131R(1)	prostate(3)	endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						c.(391-393)Tgg>Ggg		speckle-type POZ protein							121	124	123					17																	47696432		2203	4300	6503	SO:0001583	missense	8405				mRNA processing	nucleus	protein binding	g.chr17:47696432A>C	AJ000644	CCDS11551.1	17q21.33	2013-01-09			ENSG00000121067	ENSG00000121067		"BTB/POZ domain containing"	11254	protein-coding gene	gene with protein product		602650				9414087	Standard	NM_001007227		Approved	TEF2, BTBD32	uc002ipg.3	O43791	OTTHUMG00000161496	ENST00000393328.2:c.391T>G	17.37:g.47696432A>C	ENSP00000377001:p.Trp131Gly	Prostate(2;0.17)				SPOP_ENST00000393328.2_Missense_Mutation_p.W131G|SPOP_ENST00000347630.2_Missense_Mutation_p.W131G|SPOP_ENST00000504102.1_Missense_Mutation_p.W131G|SPOP_ENST00000503676.1_Missense_Mutation_p.W131G	p.W131G	NM_001007226.1|NM_001007227.1	NP_001007227.1|NP_001007228.1	O43791	SPOP_HUMAN			7	861	-			131			MATH.|Required for nuclear localization.		B2R6S3|D3DTW7|Q53HJ1	Missense_Mutation	SNP	ENST00000393328.2	37	c.391T>G	CCDS11551.1	.	.	.	.	.	.	.	.	.	.	A	20.8	4.058244	0.76074	.	.	ENSG00000121067	ENST00000393328;ENST00000393331;ENST00000347630;ENST00000504102;ENST00000503536;ENST00000503676;ENST00000513872;ENST00000509079;ENST00000505581;ENST00000507970;ENST00000514121	T;T;T;T;T;T;T;T;T	0.70045	-0.45;-0.45;-0.45;-0.45;-0.45;-0.45;-0.45;-0.45;-0.45	5.41	5.41	0.78517	TRAF-type (1);TRAF-like (1);MATH (3);	0.000000	0.85682	D	0.000000	T	0.81851	0.4910	H	0.95402	3.665	0.80722	D	1	P	0.43024	0.798	P	0.47786	0.557	D	0.87031	0.2135	10	0.72032	D	0.01	0.1404	15.258	0.73599	1.0:0.0:0.0:0.0	.	131	O43791	SPOP_HUMAN	G	131;131;131;131;15;131;84;131;131;131;131	ENSP00000377001:W131G;ENSP00000377004:W131G;ENSP00000240327:W131G;ENSP00000425905:W131G;ENSP00000420908:W131G;ENSP00000426986:W131G;ENSP00000420960:W131G;ENSP00000426262:W131G;ENSP00000424119:W131G	ENSP00000240327:W131G	W	-	1	0	SPOP	45051431	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.056000	0.93881	2.261000	0.74972	0.460000	0.39030	TGG		0.458	SPOP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365154.2	NM_003563		10	136	0	0	0	1	0	10	136					C	47696432	A	C	47696432	3	2	427	1	0	0	0	0	1	0	0	0	15083	188	7	5	757	5	SPOP	17	47696432	Missense_Mutation	SNP	A	TCGA-XJ-A83G-01A-11D-A34U-08	37342618	47696432	33498778	31	20636											
NFKBIB	4793	broad.mit.edu	37	chr19	39395664	39395664	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttgtccccagggcactgcaCttggctgtgattcatcagca	7	12	10	12	0	2	1	2	1	0	0	3	1	3	1	2	2	2	4	2	2	0	3			TCGA-XJ-A83G-01A-11D-A34U-08	TCGA-XJ-A83G-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8130ce33-1338-4bc9-b812-7060168d762a	4c90ef8d-c640-4c67-bafa-12fb155781aa	g.chr19:39395664C>G	ENST00000313582.5	+	2	223	c.189C>G	c.(187-189)caC>caG	p.H63Q	NFKBIB_ENST00000572515.1_Missense_Mutation_p.H63Q|NFKBIB_ENST00000392079.3_Intron	NM_002503.4	NP_002494.2	Q15653	IKBB_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, beta	63					innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of type I interferon production (GO:0032481)|signal transduction (GO:0007165)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription, DNA-templated (GO:0006351)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|nucleus (GO:0005634)	signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)	8	all_cancers(60;4.39e-06)|Ovarian(47;0.0454)		Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554)			GGGCACTGCACTTGGCTGTGA	0.532																																					Pancreas(165;1492 2005 6979 7739 34483)	ENST00000572515.1																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)	8						c.(187-189)caC>caG		nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, beta							184	180	182					19																	39395664		2203	4300	6503	SO:0001583	missense	4793				innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription, DNA-dependent	cytosol|nucleus	protein binding|signal transducer activity|transcription coactivator activity	g.chr19:39395664C>G	L40407	CCDS12524.1, CCDS74362.1	19q13.1	2013-01-10				ENSG00000104825		"Ankyrin repeat domain containing"	7798	protein-coding gene	gene with protein product		604495				9763672	Standard	NM_002503		Approved	IKBB, TRIP9	uc002ojw.3	Q15653		ENST00000313582.5:c.189C>G	19.37:g.39395664C>G	ENSP00000312988:p.His63Gln					NFKBIB_ENST00000313582.5_Missense_Mutation_p.H63Q|NFKBIB_ENST00000392079.3_Intron	p.H63Q			Q15653	IKBB_HUMAN	Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554)		2	270	+	all_cancers(60;4.39e-06)|Ovarian(47;0.0454)		63					A8K3F4|Q96BJ7	Missense_Mutation	SNP	ENST00000313582.5	37	c.189C>G	CCDS12524.1	.	.	.	.	.	.	.	.	.	.	C	18.52	3.642381	0.67244	.	.	ENSG00000104825	ENST00000509705;ENST00000313582	T	0.70164	-0.46	4.94	3.91	0.45181	Ankyrin repeat-containing domain (4);	0.000000	0.53938	D	0.000047	T	0.78039	0.4221	M	0.67397	2.05	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.85130	0.997;0.997	T	0.79254	-0.1879	10	0.66056	D	0.02	-27.5108	10.783	0.46388	0.0:0.9108:0.0:0.0892	.	86;63	Q59EM7;Q15653	.;IKBB_HUMAN	Q	86;63	ENSP00000312988:H63Q	ENSP00000312988:H63Q	H	+	3	2	NFKBIB	44087504	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.217000	0.32455	1.295000	0.44724	-0.137000	0.14449	CAC		0.532	NFKBIB-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438155.1	NM_002503		4	212	0	0	0	1	0	4	212					G	39395664	C	G	39395664	3	3	427	1	0	0	0	0	1	0	0	0	10378	564	20	5	195	5	NFKBIB	19	39395664	Missense_Mutation	SNP	C	TCGA-XJ-A83G-01A-11D-A34U-08		39395664	19733319	32	20637											
SUN2	25777	broad.mit.edu	37	chr22	39141779	39141779	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	caggaaaccaaagcagggtgGaatgtctgcagcccataggg	13	5	14	9	0	1	0	0	0	1	0	1	2	1	2	2	4	4	2	2	4	4	1			TCGA-XJ-A83G-01A-11D-A34U-08	TCGA-XJ-A83G-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8130ce33-1338-4bc9-b812-7060168d762a	4c90ef8d-c640-4c67-bafa-12fb155781aa	g.chr22:39141779G>A	ENST00000405510.1	-	9	1081	c.723C>T	c.(721-723)ttC>ttT	p.F241F	SUN2_ENST00000406622.1_Silent_p.F241F|RP3-508I15.14_ENST00000416406.1_RNA|RP3-508I15.21_ENST00000609212.1_RNA|SUN2_ENST00000405018.1_Silent_p.F262F|SUN2_ENST00000411587.2_Silent_p.F230F|RP3-508I15.22_ENST00000607991.1_RNA|SUN2_ENST00000216064.4_Silent_p.F241F	NM_001199580.1	NP_001186509.1	Q9UH99	SUN2_HUMAN	Sad1 and UNC84 domain containing 2	241					centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|mitotic spindle organization (GO:0007052)|nuclear envelope organization (GO:0006998)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)	condensed nuclear chromosome (GO:0000794)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|nuclear chromosome, telomeric region (GO:0000784)|nuclear envelope (GO:0005635)|nuclear inner membrane (GO:0005637)|nuclear membrane (GO:0031965)|SUN-KASH complex (GO:0034993)	identical protein binding (GO:0042802)|lamin binding (GO:0005521)|microtubule binding (GO:0008017)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|skin(2)|stomach(1)	15						AAGCAGGGTGGAATGTCTGCA	0.612																																						ENST00000405510.1																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|skin(2)|stomach(1)	15						c.(721-723)ttC>ttT		Sad1 and UNC84 domain containing 2							63	59	61					22																	39141779		2203	4300	6503	SO:0001819	synonymous_variant	25777				centrosome localization|cytoskeletal anchoring at nuclear membrane|mitotic spindle organization|nuclear envelope organization|nuclear matrix anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	endosome membrane|integral to membrane|nuclear inner membrane|SUN-KASH complex	lamin binding|microtubule binding	g.chr22:39141779G>A	AF202723	CCDS13978.1, CCDS56231.1	22q12-q13	2010-05-18	2010-05-18	2010-01-27	ENSG00000100242	ENSG00000100242			14210	protein-coding gene	gene with protein product		613569	"unc-84 homolog B (C. elegans)"	UNC84B		10508607, 10375507	Standard	NM_015374		Approved		uc010gxq.2	Q9UH99	OTTHUMG00000151031	ENST00000405510.1:c.723C>T	22.37:g.39141779G>A						SUN2_ENST00000411587.2_Silent_p.F230F|SUN2_ENST00000406622.1_Silent_p.F241F|SUN2_ENST00000405018.1_Silent_p.F262F|SUN2_ENST00000216064.4_Silent_p.F241F|RP3-508I15.14_ENST00000416406.1_RNA	p.F241F	NM_001199580.1	NP_001186509.1	Q9UH99	SUN2_HUMAN			9	1081	-			241					B0QY62|O75156|Q2NKN8|Q2T9F7|Q504T5|Q6B4H1|Q7Z3E3	Silent	SNP	ENST00000405510.1	37	c.723C>T	CCDS13978.1	.	.	.	.	.	.	.	.	.	.	G	9.056	0.993312	0.19043	.	.	ENSG00000100242	ENST00000430185	.	.	.	5.35	0.66	0.17868	.	.	.	.	.	T	0.55353	0.1915	.	.	.	0.47441	D	0.999422	.	.	.	.	.	.	T	0.45731	-0.9241	4	.	.	.	-5.8161	8.669	0.34138	0.0854:0.4544:0.4602:0.0	.	.	.	.	F	98	.	.	S	-	2	0	SUN2	37471725	0.976000	0.34144	0.133000	0.22050	0.980000	0.70556	0.825000	0.27393	-0.030000	0.13804	-0.165000	0.13383	TCC		0.612	SUN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321057.1	XM_039332		4	11	0	0	0	1	0	4	11					A	39141779	G	A	39141779	2	1	427	1	0	0	0	0	0	0	0	1	15389	1165	41	3		3	SUN2	22	39141779	Silent	SNP	G	TCGA-XJ-A83G-01A-11D-A34U-08		39141779	12162787	33	20638											
CNKSR2	22866	broad.mit.edu	37	chrX	21450761	21450761	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ggaaacagaaaatctaaaaaCcctttctcacaagttgaatg	18	9	6	8	0	2	2	1	1	2	1	3	3	2	3	1	1	2	1	1	1	8	3			TCGA-XJ-A83G-01A-11D-A34U-08	TCGA-XJ-A83G-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8130ce33-1338-4bc9-b812-7060168d762a	4c90ef8d-c640-4c67-bafa-12fb155781aa	g.chrX:21450761C>A	ENST00000379510.3	+	3	296	c.260C>A	c.(259-261)aCc>aAc	p.T87N	CNKSR2_ENST00000543067.1_Missense_Mutation_p.T87N|CNKSR2_ENST00000279451.4_Missense_Mutation_p.T87N|CNKSR2_ENST00000425654.2_Missense_Mutation_p.T87N	NM_014927.3	NP_055742.2	Q8WXI2	CNKR2_HUMAN	connector enhancer of kinase suppressor of Ras 2	87	CRIC. {ECO:0000255|PROSITE- ProRule:PRU00621}.				regulation of signal transduction (GO:0009966)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)		p.T87N(2)		breast(3)|endometrium(8)|kidney(2)|large_intestine(15)|lung(28)|prostate(2)|upper_aerodigestive_tract(3)	61						AATCTAAAAACCCTTTCTCAC	0.328																																						ENST00000425654.2																			2	Substitution - Missense(2)	p.T87N(2)	prostate(1)|kidney(1)	breast(3)|endometrium(8)|kidney(2)|large_intestine(15)|lung(28)|prostate(2)|upper_aerodigestive_tract(3)	61						c.(259-261)aCc>aAc		connector enhancer of kinase suppressor of Ras 2							62	69	67					X																	21450761		2203	4300	6503	SO:0001583	missense	22866				regulation of signal transduction	cytoplasm|membrane	protein binding	g.chrX:21450761C>A	AB020709	CCDS14198.1, CCDS55387.1, CCDS55388.1, CCDS55389.1	Xp22.12	2013-01-10			ENSG00000149970	ENSG00000149970		"Sterile alpha motif (SAM) domain containing", "Pleckstrin homology (PH) domain containing"	19701	protein-coding gene	gene with protein product		300724					Standard	NM_014927		Approved	KIAA0902, CNK2, KSR2	uc004czx.2	Q8WXI2	OTTHUMG00000021233	ENST00000379510.3:c.260C>A	X.37:g.21450761C>A	ENSP00000368824:p.Thr87Asn					CNKSR2_ENST00000379510.3_Missense_Mutation_p.T87N|CNKSR2_ENST00000543067.1_Missense_Mutation_p.T87N|CNKSR2_ENST00000279451.4_Missense_Mutation_p.T87N	p.T87N	NM_001168647.1	NP_001162118.1	Q8WXI2	CNKR2_HUMAN			3	740	+			87			CRIC.		B4DGR4|B7ZLJ1|B9EG83|E7ESA4|O94976|Q5JPK4|Q5JPN0|Q8WXI1	Missense_Mutation	SNP	ENST00000379510.3	37	c.260C>A	CCDS14198.1	.	.	.	.	.	.	.	.	.	.	C	13.46	2.242689	0.39598	.	.	ENSG00000149970	ENST00000425654;ENST00000543067;ENST00000279451;ENST00000379510	T;T;T;T	0.19250	2.43;2.17;2.16;2.43	4.76	4.76	0.60689	CRIC domain (1);CRIC domain, Chordata (1);	0.000000	0.85682	D	0.000000	T	0.28466	0.0704	N	0.11927	0.2	0.58432	D	0.999999	D;B;B	0.89917	1.0;0.333;0.236	D;B;B	0.83275	0.996;0.326;0.173	T	0.19451	-1.0305	10	0.25751	T	0.34	-0.0541	17.1028	0.86654	0.0:1.0:0.0:0.0	.	87;87;87	B7ZLJ1;B4DGR4;Q8WXI2	.;.;CNKR2_HUMAN	N	87	ENSP00000397906:T87N;ENSP00000444633:T87N;ENSP00000279451:T87N;ENSP00000368824:T87N	ENSP00000279451:T87N	T	+	2	0	CNKSR2	21360682	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.344000	0.79328	1.958000	0.56883	0.363000	0.22086	ACC		0.328	CNKSR2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056019.1	NM_014927		6	53	1	0	0.0215528	1	0.0215528	6	53					A	21450761	C	A	21450761	3	1	427	1	0	0	0	0	1	0	0	0	3607	507	18	5	270	5	CNKSR2	23	21450761	Missense_Mutation	SNP	C	TCGA-XJ-A83G-01A-11D-A34U-08		21450761	133819799	34	20639											
PCDH11X	27328	broad.mit.edu	37	chrX	91090586	91090586	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tggcgcccaggagaaaaactAcaccatccgagaagaaatgc	16	4	10	11	2	0	3	0	0	0	3	1	5	1	3	3	2	3	0	3	2	5	1			TCGA-XJ-A83G-01A-11D-A34U-08	TCGA-XJ-A83G-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8130ce33-1338-4bc9-b812-7060168d762a	4c90ef8d-c640-4c67-bafa-12fb155781aa	g.chrX:91090586A>T	ENST00000373094.1	+	1	928	c.83A>T	c.(82-84)tAc>tTc	p.Y28F	PCDH11X_ENST00000361724.1_Missense_Mutation_p.Y28F|PCDH11X_ENST00000298274.8_Missense_Mutation_p.Y28F|PCDH11X_ENST00000373097.1_Missense_Mutation_p.Y28F|PCDH11X_ENST00000395337.2_Missense_Mutation_p.Y28F|PCDH11X_ENST00000361655.2_Missense_Mutation_p.Y28F|PCDH11X_ENST00000373088.1_Missense_Mutation_p.Y28F|PCDH11X_ENST00000504220.2_Missense_Mutation_p.Y28F|PCDH11X_ENST00000406881.1_Missense_Mutation_p.Y28F	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	28	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|negative regulation of phosphatase activity (GO:0010923)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						GAGAAAAACTACACCATCCGA	0.488																																					NSCLC(38;925 1092 2571 38200 45895)	ENST00000373094.1																			0				NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						c.(82-84)tAc>tTc		protocadherin 11 X-linked							138	104	116					X																	91090586		2203	4300	6503	SO:0001583	missense	27328				homophilic cell adhesion	integral to plasma membrane	calcium ion binding	g.chrX:91090586A>T	AB026187	CCDS14461.1, CCDS14462.1, CCDS55458.1, CCDS55459.1, CCDS55460.1, CCDS55461.1	Xq21.3	2014-06-13	2002-05-22	2002-05-24	ENSG00000102290	ENSG00000102290		"Cadherins / Protocadherins : Non-clustered"	8656	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 119"	300246	"protocadherin 11"	PCDH11		10644456	Standard	NM_001168360		Approved	PCDH-X, PCDHX, PPP1R119	uc004efm.2	Q9BZA7	OTTHUMG00000021965	ENST00000373094.1:c.83A>T	X.37:g.91090586A>T	ENSP00000362186:p.Tyr28Phe					PCDH11X_ENST00000395337.2_Missense_Mutation_p.Y28F|PCDH11X_ENST00000298274.8_Missense_Mutation_p.Y28F|PCDH11X_ENST00000361724.1_Missense_Mutation_p.Y28F|PCDH11X_ENST00000373088.1_Missense_Mutation_p.Y28F|PCDH11X_ENST00000361655.2_Missense_Mutation_p.Y28F|PCDH11X_ENST00000406881.1_Missense_Mutation_p.Y28F|PCDH11X_ENST00000373097.1_Missense_Mutation_p.Y28F|PCDH11X_ENST00000504220.1_Missense_Mutation_p.Y28F	p.Y28F	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN			1	928	+			28			Cadherin 1.		A6NIQ4|Q2TJH0|Q2TJH1|Q2TJH3|Q5JVZ0|Q70LR8|Q70LS7|Q70LS8|Q70LS9|Q70LT7|Q70LT8|Q70LT9|Q70LU0|Q70LU1|Q96RV4|Q96RW0|Q9BZA6|Q9H4E0|Q9P2M0|Q9P2X5	Missense_Mutation	SNP	ENST00000373094.1	37	c.83A>T	CCDS14461.1	.	.	.	.	.	.	.	.	.	.	A	19.70	3.877144	0.72180	.	.	ENSG00000102290	ENST00000395337;ENST00000373094;ENST00000373097;ENST00000361724;ENST00000373088;ENST00000504220;ENST00000361655;ENST00000406881;ENST00000356934;ENST00000298274	T;T;T;T;T;T;T;T;T	0.53857	0.6;0.6;0.6;0.6;0.6;0.6;0.6;0.6;0.6	3.93	3.93	0.45458	Cadherin, N-terminal (1);Cadherin (2);	0.000000	0.64402	D	0.000001	T	0.70613	0.3244	M	0.76938	2.355	0.45108	D	0.99812	D;P;D;D;D;D;D;D	0.76494	0.999;0.854;0.999;0.999;0.999;0.999;0.999;0.999	D;P;D;D;D;D;D;D	0.91635	0.998;0.747;0.998;0.998;0.998;0.999;0.998;0.998	T	0.74691	-0.3580	10	0.87932	D	0	.	11.4509	0.50151	1.0:0.0:0.0:0.0	.	28;28;28;28;28;28;28;28	Q9BZA7-6;Q9BZA7-5;Q9BZA7-4;Q9BZA7-8;Q9BZA7-3;Q9BZA7;Q9BZA7-7;Q9BZA7-2	.;.;.;.;.;PC11X_HUMAN;.;.	F	28	ENSP00000378746:Y28F;ENSP00000362186:Y28F;ENSP00000362189:Y28F;ENSP00000355040:Y28F;ENSP00000362180:Y28F;ENSP00000423762:Y28F;ENSP00000355105:Y28F;ENSP00000384758:Y28F;ENSP00000298274:Y28F	ENSP00000298274:Y28F	Y	+	2	0	PCDH11X	90977242	1.000000	0.71417	0.772000	0.31596	0.884000	0.51177	8.349000	0.90067	1.555000	0.49500	0.339000	0.21740	TAC		0.488	PCDH11X-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057436.1	NM_032969		15	21	0	0	0	1	0	15	21					T	91090586	A	T	91090586	3	4	427	1	0	0	0	0	1	0	0	0	11508	391	14	5	85	5	PCDH11X	23	91090586	Missense_Mutation	SNP	A	TCGA-XJ-A83G-01A-11D-A34U-08	69639825	91090586	64179974	35	20640											
MAGEA6	4105	broad.mit.edu	37	chrX	151869898	151869898	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgggtgacaatcagatcatGcccaagacaggcttcctgat	11	9	10	11	0	2	4	2	2	0	2	3	4	3	4	2	2	1	1	2	2	2	1			TCGA-XJ-A83G-01A-11D-A34U-08	TCGA-XJ-A83G-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8130ce33-1338-4bc9-b812-7060168d762a	4c90ef8d-c640-4c67-bafa-12fb155781aa	g.chrX:151869898G>T	ENST00000329342.5	+	3	813	c.588G>T	c.(586-588)atG>atT	p.M196I		NM_005363.2	NP_005354.1	P43360	MAGA6_HUMAN	melanoma antigen family A, 6	196	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.									breast(1)|endometrium(3)|large_intestine(3)|lung(16)|prostate(3)|skin(1)|urinary_tract(1)	28	Acute lymphoblastic leukemia(192;6.56e-05)					ATCAGATCATGCCCAAGACAG	0.557																																						ENST00000329342.5																			0				breast(1)|endometrium(3)|large_intestine(3)|lung(16)|prostate(3)|skin(1)|urinary_tract(1)	28						c.(586-588)atG>atT		melanoma antigen family A, 6							123	118	120					X																	151869898		2202	4298	6500	SO:0001583	missense	4105						protein binding	g.chrX:151869898G>T		CCDS76050.1	Xq28	2009-03-13			ENSG00000197172	ENSG00000197172			6804	protein-coding gene	gene with protein product	"MAGE-6 antigen", "melanoma-associated antigen 6", "melanoma antigen family A 6", "cancer/testis antigen family 1, member 6"	300176		MAGE6		8575766	Standard	NM_005363		Approved	CT1.6	uc004ffq.1	P43360	OTTHUMG00000022642	ENST00000329342.5:c.588G>T	X.37:g.151869898G>T	ENSP00000329199:p.Met196Ile						p.M196I	NM_005363.2	NP_005354.1	P43360	MAGA6_HUMAN			3	813	+	Acute lymphoblastic leukemia(192;6.56e-05)		196			MAGE.		A8IF93|Q6NW44	Missense_Mutation	SNP	ENST00000329342.5	37	c.588G>T	CCDS14708.1	.	.	.	.	.	.	.	.	.	.	g	4.435	0.080456	0.08533	.	.	ENSG00000197172	ENST00000329342;ENST00000412733;ENST00000457643	T;T;T	0.04654	3.58;3.58;3.58	0.605	-0.954	0.10359	.	.	.	.	.	T	0.06188	0.0160	M	0.67625	2.065	0.09310	N	1	B	0.15473	0.013	B	0.17722	0.019	T	0.35251	-0.9796	8	0.52906	T	0.07	.	.	.	.	.	196	P43360	MAGA6_HUMAN	I	196	ENSP00000329199:M196I;ENSP00000403303:M196I;ENSP00000401806:M196I	ENSP00000329199:M196I	M	+	3	0	MAGEA6	151620554	0.038000	0.19896	0.005000	0.12908	0.022000	0.10575	0.072000	0.14617	-0.394000	0.07727	0.181000	0.17075	ATG		0.557	MAGEA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058747.2	NM_005363		43	46	1	0	6.2361e-21	1	6.96123e-21	43	46					T	151869898	G	T	151869898	3	4	427	1	0	0	0	0	1	0	0	0	9170	1319	46	5	590	5	MAGEA6	23	151869898	Missense_Mutation	SNP	G	TCGA-XJ-A83G-01A-11D-A34U-08	60779312	151869898	3400662	36	20641											
CROCC	9696	broad.mit.edu	37	chr1	17266574	17266574	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cagcggctgcggagcgccaaCgagctcctgagcaggtgccg	7	4	16	14	5	0	1	0	1	0	0	1	3	1	2	3	3	7	3	3	3	1	0			TCGA-XJ-A83H-01A-11D-A34U-08	TCGA-XJ-A83H-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c27050c-aef0-4f06-b6c3-fedca13d658a	eda129be-4306-443e-a904-e4d5d91c9eb7	g.chr1:17266574C>A	ENST00000375541.5	+	13	1863	c.1794C>A	c.(1792-1794)aaC>aaA	p.N598K	CROCC_ENST00000467938.1_3'UTR	NM_014675.3	NP_055490.3			ciliary rootlet coiled-coil, rootletin											breast(3)|central_nervous_system(2)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(1)|lung(20)|ovary(3)|prostate(9)|skin(3)|urinary_tract(1)	62		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)		GGAGCGCCAACGAGCTCCTGA	0.647																																						ENST00000375541.5																			0				breast(3)|central_nervous_system(2)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(1)|lung(20)|ovary(3)|prostate(9)|skin(3)|urinary_tract(1)	62						c.(1792-1794)aaC>aaA		ciliary rootlet coiled-coil, rootletin							10	11	11					1																	17266574		2169	4221	6390	SO:0001583	missense	9696				cell cycle|cell projection organization|centrosome organization|protein localization	actin cytoskeleton|centriole|ciliary rootlet|plasma membrane	kinesin binding|structural molecule activity	g.chr1:17266574C>A	AB007914	CCDS30616.1	1p36.13	2010-06-04	2009-03-04	2009-03-04	ENSG00000058453	ENSG00000058453			21299	protein-coding gene	gene with protein product	"rootletin, ciliary rootlet protein"	615776				12427867, 17971504	Standard	XM_006711056		Approved	rootletin, ROLT	uc001azt.2	Q5TZA2	OTTHUMG00000002200	ENST00000375541.5:c.1794C>A	1.37:g.17266574C>A	ENSP00000364691:p.Asn598Lys					CROCC_ENST00000467938.1_3'UTR	p.N598K	NM_014675.3	NP_055490.3	Q5TZA2	CROCC_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)	13	1863	+		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)	598						Missense_Mutation	SNP	ENST00000375541.5	37	c.1794C>A	CCDS30616.1	.	.	.	.	.	.	.	.	.	.	C	3.949	-0.012693	0.07727	.	.	ENSG00000058453	ENST00000375541;ENST00000445545	T	0.09255	3.0	4.99	-6.78	0.01721	.	.	.	.	.	T	0.03915	0.0110	N	0.14661	0.345	0.19300	N	0.99997	B;B;B	0.20988	0.004;0.005;0.05	B;B;B	0.22753	0.01;0.014;0.041	T	0.43556	-0.9384	9	0.05721	T	0.95	.	5.7365	0.18069	0.1029:0.1771:0.1014:0.6186	.	461;461;598	A1L0S8;A1L0S9;Q5TZA2	.;.;CROCC_HUMAN	K	598;479	ENSP00000364691:N598K	ENSP00000364691:N598K	N	+	3	2	CROCC	17139161	0.000000	0.05858	0.002000	0.10522	0.952000	0.60782	-5.200000	0.00142	-1.382000	0.02109	-0.254000	0.11334	AAC		0.647	CROCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006249.2	NM_014675		3	10	1	0	0.115264	1	0.115264	3	10					A	17266574	C	A	17266574	3	1	428	1	0	0	0	0	1	0	0	0	3893	535	19	5	1844	5	CROCC	1	17266574	Missense_Mutation	SNP	C	TCGA-XJ-A83H-01A-11D-A34U-08		17266574	231984047	1	20642											
RPL5	6125	broad.mit.edu	37	chr1	93301888	93301890	+	In_Frame_Del	DEL	GGC	GGC	-																															gccttgccagaactaccactGgcaataaagtttttggtgcc																										TCGA-XJ-A83H-01A-11D-A34U-08	TCGA-XJ-A83H-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c27050c-aef0-4f06-b6c3-fedca13d658a	eda129be-4306-443e-a904-e4d5d91c9eb7	g.chr1:93301888_93301890delGGC	ENST00000370321.3	+	5	556_558	c.466_468delGGC	c.(466-468)ggcdel	p.G156del	SNORA66_ENST00000515986.1_RNA|SNORD21_ENST00000383953.1_RNA	NM_000969.3	NP_000960.2	P46777	RL5_HUMAN	ribosomal protein L5	156					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|ribosomal large subunit biogenesis (GO:0042273)|RNA metabolic process (GO:0016070)|rRNA processing (GO:0006364)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	5S rRNA binding (GO:0008097)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	9		all_lung(203;0.00265)|Lung NSC(277;0.0056)|all_neural(321;0.185)|Melanoma(281;0.192)|Glioma(108;0.203)		GBM - Glioblastoma multiforme(16;0.000305)|all cancers(265;0.000343)|Epithelial(280;0.0927)		AACTACCACTGGCAATAAAGTTT	0.493																																						ENST00000370321.3																			0				endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	9						c.(466-468)del		ribosomal protein L5																																				SO:0001651	inframe_deletion	6125				endocrine pancreas development|ribosomal large subunit biogenesis|rRNA processing|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|nucleolus	5S rRNA binding|protein binding|structural constituent of ribosome	g.chr1:93301888_93301890delGGC	U14966	CCDS741.1	1p22.1	2014-06-13			ENSG00000122406	ENSG00000122406		"L ribosomal proteins"	10360	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 135"	603634				7937132, 7772601	Standard	NM_000969		Approved	L5, PPP1R135	uc001doz.3	P46777	OTTHUMG00000010899	ENST00000370321.3:c.466_468delGGC	1.37:g.93301888_93301890delGGC	ENSP00000359345:p.Gly156del						p.G156del	NM_000969.3	NP_000960.2	P46777	RL5_HUMAN		GBM - Glioblastoma multiforme(16;0.000305)|all cancers(265;0.000343)|Epithelial(280;0.0927)	5	556_558	+		all_lung(203;0.00265)|Lung NSC(277;0.0056)|all_neural(321;0.185)|Melanoma(281;0.192)|Glioma(108;0.203)	156					Q32LZ3|Q53HH6|Q9H3F4	In_Frame_Del	DEL	ENST00000370321.3	37	c.466_468delGGC	CCDS741.1																																																																																				0.493	RPL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030058.2	NM_000969		14	114						14	114	---	---	---	---	-	93301890	GGC	-	93301888	7	5	428	1	0	1	0	1	0	0	0	0	13597	1348	47	0	484	0	RPL5	1	93301888	In_Frame_Del	DEL	GGC	TCGA-XJ-A83H-01A-11D-A34U-08	76035314	93301888	155948733	2	20643											
DCAF6	55827	broad.mit.edu	37	chr1	167962660	167962660	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaacttaaaactccttctgcGgaagagagaagagaagaggt	16	7	12	6	1	1	4	0	0	1	4	2	8	2	5	1	2	3	0	1	2	6	2			TCGA-XJ-A83H-01A-11D-A34U-08	TCGA-XJ-A83H-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c27050c-aef0-4f06-b6c3-fedca13d658a	eda129be-4306-443e-a904-e4d5d91c9eb7	g.chr1:167962660G>A	ENST00000312263.6	+	7	1089	c.885G>A	c.(883-885)gcG>gcA	p.A295A	DCAF6_ENST00000367843.3_Silent_p.A295A|DCAF6_ENST00000432587.2_Silent_p.A264A|DCAF6_ENST00000367840.3_Silent_p.A295A	NM_001017977.2	NP_001017977.1	Q58WW2	DCAF6_HUMAN	DDB1 and CUL4 associated factor 6	295					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein ubiquitination (GO:0016567)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(8)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	36						CTCCTTCTGCGGAAGAGAGAA	0.483																																						ENST00000367840.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(8)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	36						c.(883-885)gcG>gcA		DDB1 and CUL4 associated factor 6							57	56	57					1																	167962660		2203	4300	6503	SO:0001819	synonymous_variant	55827				positive regulation of transcription from RNA polymerase II promoter	CUL4 RING ubiquitin ligase complex|nucleus	ligand-dependent nuclear receptor transcription coactivator activity	g.chr1:167962660G>A	AL136738	CCDS1267.2, CCDS30933.1, CCDS55657.1, CCDS55658.1	1q23.3	2013-01-09	2009-07-17	2009-07-17	ENSG00000143164	ENSG00000143164		"WD repeat domain containing", "DDB1 and CUL4 associated factors"	30002	protein-coding gene	gene with protein product		610494	"IQ motif and WD repeats 1"	IQWD1		12032826	Standard	NM_018442		Approved	PC326	uc001gex.3	Q58WW2	OTTHUMG00000034572	ENST00000312263.6:c.885G>A	1.37:g.167962660G>A						DCAF6_ENST00000432587.2_Silent_p.A264A|DCAF6_ENST00000367843.3_Silent_p.A295A|DCAF6_ENST00000312263.6_Silent_p.A295A	p.A295A	NM_001198956.1	NP_001185885.1	Q58WW2	DCAF6_HUMAN			7	979	+			295					A2A295|B4DNB8|Q7L8I0|Q8IXH3|Q8TB19	Silent	SNP	ENST00000312263.6	37	c.885G>A	CCDS30933.1																																																																																				0.483	DCAF6-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000083661.2	NM_018442		3	81	0	0	0	1	0	3	81					A	167962660	G	A	167962660	2	1	428	1	0	0	0	0	0	0	0	1	4274	1103	39	2		2	DCAF6	1	167962660	Silent	SNP	G	TCGA-XJ-A83H-01A-11D-A34U-08	74660772	167962660	81287961	3	20644											
ZNF672	79894	broad.mit.edu	37	chr1	249142229	249142229	+	Frame_Shift_Del	DEL	G	G	-																															cagcgcacacacacgggcgaGaagccgtacgcatgtggcga																										TCGA-XJ-A83H-01A-11D-A34U-08	TCGA-XJ-A83H-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c27050c-aef0-4f06-b6c3-fedca13d658a	eda129be-4306-443e-a904-e4d5d91c9eb7	g.chr1:249142229delG	ENST00000306562.3	+	4	1502	c.756delG	c.(754-756)gagfs	p.E252fs		NM_024836.1	NP_079112.1	Q499Z4	ZN672_HUMAN	zinc finger protein 672	252					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(2)|kidney(2)|large_intestine(1)	5	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.19)	OV - Ovarian serous cystadenocarcinoma(106;0.00805)			ACACGGGCGAGAAGCCGTACG	0.677																																						ENST00000306562.3																			0				endometrium(2)|kidney(2)|large_intestine(1)	5						c.(754-756)gafs		zinc finger protein 672							8	7	7					1																	249142229		2164	4211	6375	SO:0001589	frameshift_variant	79894				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:249142229delG	AK027476	CCDS1638.1	1q44	2013-01-08			ENSG00000171161	ENSG00000171161		"Zinc fingers, C2H2-type"	26179	protein-coding gene	gene with protein product	"hypothetical protein FLJ22301"					12477932	Standard	NM_024836		Approved	FLJ22301	uc001iex.3	Q499Z4	OTTHUMG00000040377	ENST00000306562.3:c.756delG	1.37:g.249142229delG	ENSP00000421915:p.Glu252fs						p.E252fs	NM_024836.1	NP_079112.1	Q499Z4	ZN672_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00805)		4	1502	+	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.19)	252					Q96H65|Q96IM3|Q9H6G5	Frame_Shift_Del	DEL	ENST00000306562.3	37	c.756delG	CCDS1638.1																																																																																				0.677	ZNF672-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097125.2	NM_024836		2	4						2	4	---	---	---	---	-	249142229	G	-	249142229	7	5	428	1	0	1	0	1	0	0	0	0	18076	933	33	0	758	0	ZNF672	1	249142229	Frame_Shift_Del	DEL	G	TCGA-XJ-A83H-01A-11D-A34U-08	81179569	249142229	108392	4	20645											
ST6GAL2	84620	broad.mit.edu	37	chr2	107459775	107459775	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttcatcgccttctgcaggCgcgggttcagcattttggaa	6	12	11	12	3	3	0	2	0	1	0	4	1	3	1	2	3	2	3	2	3	1	5			TCGA-XJ-A83H-01A-11D-A34U-08	TCGA-XJ-A83H-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c27050c-aef0-4f06-b6c3-fedca13d658a	eda129be-4306-443e-a904-e4d5d91c9eb7	g.chr2:107459775C>T	ENST00000409382.3	-	2	1269	c.659G>A	c.(658-660)cGc>cAc	p.R220H	ST6GAL2_ENST00000409087.3_Missense_Mutation_p.R220H|AC016994.2_ENST00000425419.1_RNA|ST6GAL2_ENST00000361686.4_Missense_Mutation_p.R220H	NM_001142351.1	NP_001135823.1	Q96JF0	SIAT2_HUMAN	ST6 beta-galactosamide alpha-2,6-sialyltranferase 2	220					growth (GO:0040007)|multicellular organismal development (GO:0007275)|oligosaccharide metabolic process (GO:0009311)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	beta-galactoside alpha-2,6-sialyltransferase activity (GO:0003835)			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(30)|ovary(5)|pancreas(6)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	65						CTTCTGCAGGCGCGGGTTCAG	0.647																																						ENST00000409382.3																			0				autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(30)|ovary(5)|pancreas(6)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	65						c.(658-660)cGc>cAc		ST6 beta-galactosamide alpha-2,6-sialyltranferase 2							39	40	40					2																	107459775		2203	4300	6503	SO:0001583	missense	84620				growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation	Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,6-sialyltransferase activity	g.chr2:107459775C>T	AB059555	CCDS2073.1, CCDS46380.1	2q11-q12	2008-02-05	2005-02-07	2005-02-07	ENSG00000144057	ENSG00000144057	2.4.99.2		10861	protein-coding gene	gene with protein product		608472	"sialyltransferase 2 (monosialoganglioside sialyltransferase)"	SIAT2			Standard	NM_032528		Approved	KIAA1877, St6gal2, St6GalII	uc002tdr.3	Q96JF0	OTTHUMG00000130923	ENST00000409382.3:c.659G>A	2.37:g.107459775C>T	ENSP00000386942:p.Arg220His					ST6GAL2_ENST00000409087.3_Missense_Mutation_p.R220H|ST6GAL2_ENST00000361686.4_Missense_Mutation_p.R220H	p.R220H	NM_001142351.1	NP_001135823.1	Q96JF0	SIAT2_HUMAN			2	1269	-			220					D3DVK3|Q53QP4|Q86Y44|Q8IUG7|Q96HE4	Missense_Mutation	SNP	ENST00000409382.3	37	c.659G>A	CCDS2073.1	.	.	.	.	.	.	.	.	.	.	C	27.7	4.856093	0.91355	.	.	ENSG00000144057	ENST00000361686;ENST00000409382;ENST00000409087	T;T;T	0.50548	1.84;1.84;0.74	5.14	4.26	0.50523	.	0.234460	0.45361	D	0.000376	T	0.70937	0.3281	M	0.85373	2.75	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.77557	0.99;0.975	T	0.76812	-0.2821	10	0.87932	D	0	-17.5576	14.2741	0.66167	0.1495:0.8505:0.0:0.0	.	220;220	Q96JF0-2;Q96JF0	.;SIAT2_HUMAN	H	220	ENSP00000355273:R220H;ENSP00000386942:R220H;ENSP00000387332:R220H	ENSP00000355273:R220H	R	-	2	0	ST6GAL2	106826207	1.000000	0.71417	0.996000	0.52242	0.997000	0.91878	7.329000	0.79170	1.161000	0.42604	0.561000	0.74099	CGC		0.647	ST6GAL2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330065.1	NM_032528		6	12	0	0	0	1	0	6	12					T	107459775	C	T	107459775	3	4	428	1	0	0	0	0	1	0	0	0	15221	768	27	1	1037	1	ST6GAL2	2	107459775	Missense_Mutation	SNP	C	TCGA-XJ-A83H-01A-11D-A34U-08		107459775	135739598	5	20646											
SLC25A12	8604	broad.mit.edu	37	chr2	172666119	172666119	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctaacagtaatacttacacaGcctccagcaagaacttctgc	14	9	5	13	0	1	1	0	0	1	1	2	1	2	1	2	0	7	2	2	0	6	5			TCGA-XJ-A83H-01A-11D-A34U-08	TCGA-XJ-A83H-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c27050c-aef0-4f06-b6c3-fedca13d658a	eda129be-4306-443e-a904-e4d5d91c9eb7	g.chr2:172666119G>A	ENST00000422440.2	-	13	1339	c.1302C>T	c.(1300-1302)ggC>ggT	p.G434G	SLC25A12_ENST00000392592.4_Silent_p.G327G	NM_003705.4	NP_003696.2	O75746	CMC1_HUMAN	solute carrier family 25 (aspartate/glutamate carrier), member 12	434					aspartate transport (GO:0015810)|carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|L-glutamate transport (GO:0015813)|malate-aspartate shuttle (GO:0043490)|response to calcium ion (GO:0051592)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)|L-aspartate transmembrane transporter activity (GO:0015183)|L-glutamate transmembrane transporter activity (GO:0005313)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|upper_aerodigestive_tract(1)	23			OV - Ovarian serous cystadenocarcinoma(117;0.216)		L-Aspartic Acid(DB00128)	TACTTACACAGCCTCCAGCAA	0.388																																						ENST00000422440.2																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|upper_aerodigestive_tract(1)	23						c.(1300-1302)ggC>ggT		solute carrier family 25 (aspartate/glutamate carrier), member 12	L-Aspartic Acid(DB00128)						129	136	134					2																	172666119		2203	4300	6503	SO:0001819	synonymous_variant	8604				gluconeogenesis|malate-aspartate shuttle|response to calcium ion	integral to membrane|mitochondrial inner membrane	calcium ion binding|L-aspartate transmembrane transporter activity|L-glutamate transmembrane transporter activity|protein binding	g.chr2:172666119G>A	Y14494	CCDS33327.1	2q24	2013-05-22	2012-03-29		ENSG00000115840	ENSG00000115840		"Solute carriers", "EF-hand domain containing"	10982	protein-coding gene	gene with protein product		603667	"solute carrier family 25 (mitochondrial carrier, Aralar), member 12"			9722566, 10702666, 11566871	Standard	NM_003705		Approved	Aralar	uc002uhh.3	O75746	OTTHUMG00000134290	ENST00000422440.2:c.1302C>T	2.37:g.172666119G>A						SLC25A12_ENST00000392592.4_Silent_p.G327G	p.G434G	NM_003705.4	NP_003696.2	O75746	CMC1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.216)		13	1339	-			434					B3KR64|Q96AM8	Silent	SNP	ENST00000422440.2	37	c.1302C>T	CCDS33327.1																																																																																				0.388	SLC25A12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259010.2	NM_003705		6	126	0	0	0	1	0	6	126					A	172666119	G	A	172666119	2	1	428	1	0	0	0	0	0	0	0	1	14474	958	34	3		3	SLC25A12	2	172666119	Silent	SNP	G	TCGA-XJ-A83H-01A-11D-A34U-08	65206344	172666119	70533254	6	20647											
MFSD6	54842	broad.mit.edu	37	chr2	191362263	191362263	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agacagaagatgtcatgccaCgcattgagcccagacttcca	13	7	9	12	1	1	5	1	1	0	4	2	5	2	5	3	0	2	1	3	0	1	2			TCGA-XJ-A83H-01A-11D-A34U-08	TCGA-XJ-A83H-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c27050c-aef0-4f06-b6c3-fedca13d658a	eda129be-4306-443e-a904-e4d5d91c9eb7	g.chr2:191362263C>T	ENST00000392328.1	+	7	2314	c.1990C>T	c.(1990-1992)Cgc>Tgc	p.R664C	MFSD6_ENST00000535751.1_Missense_Mutation_p.R126C|MFSD6_ENST00000281416.7_Missense_Mutation_p.R664C	NM_017694.3	NP_060164.3	Q6ZSS7	MFSD6_HUMAN	major facilitator superfamily domain containing 6	664					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(3)|stomach(1)	23						TGTCATGCCACGCATTGAGCC	0.502																																						ENST00000392328.1																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(3)|stomach(1)	23						c.(1990-1992)Cgc>Tgc		major facilitator superfamily domain containing 6							168	144	152					2																	191362263		2203	4300	6503	SO:0001583	missense	54842				transmembrane transport	integral to membrane		g.chr2:191362263C>T		CCDS2306.1	2q32.2	2008-10-29			ENSG00000151690	ENSG00000151690			24711	protein-coding gene	gene with protein product		613476					Standard	NM_017694		Approved	FLJ20160	uc002urz.2	Q6ZSS7	OTTHUMG00000132671	ENST00000392328.1:c.1990C>T	2.37:g.191362263C>T	ENSP00000376141:p.Arg664Cys					MFSD6_ENST00000535751.1_Missense_Mutation_p.R126C|MFSD6_ENST00000281416.7_Missense_Mutation_p.R664C	p.R664C	NM_017694.3	NP_060164.3	Q6ZSS7	MFSD6_HUMAN			7	2314	+			664					D3KSZ4|Q86TH2|Q9NXM3	Missense_Mutation	SNP	ENST00000392328.1	37	c.1990C>T	CCDS2306.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	22.0|22.0	4.229592|4.229592	0.79688|0.79688	.|.	.|.	ENSG00000151690|ENSG00000151690	ENST00000392328;ENST00000281416;ENST00000444317;ENST00000535751|ENST00000434582	T;T|.	0.36340|.	1.26;1.26|.	5.74|5.74	5.74|5.74	0.90152|0.90152	.|.	0.225478|.	0.46758|.	D|.	0.000276|.	T|T	0.61173|0.61173	0.2326|0.2326	L|L	0.44542|0.44542	1.39|1.39	0.50039|0.50039	D|D	0.999843|0.999843	D|.	0.76494|.	0.999|.	P|.	0.59643|.	0.861|.	T|T	0.56282|0.56282	-0.8005|-0.8005	10|5	0.56958|.	D|.	0.05|.	-10.8169|-10.8169	14.5178|14.5178	0.67830|0.67830	0.0:0.8539:0.1461:0.0|0.0:0.8539:0.1461:0.0	.|.	664|.	Q6ZSS7|.	MFSD6_HUMAN|.	C|M	664;664;126;126|199	ENSP00000376141:R664C;ENSP00000281416:R664C|.	ENSP00000281416:R664C|.	R|T	+|+	1|2	0|0	MFSD6|MFSD6	191070508|191070508	0.992000|0.992000	0.36948|0.36948	0.990000|0.990000	0.47175|0.47175	0.992000|0.992000	0.81027|0.81027	1.900000|1.900000	0.39828|0.39828	2.720000|2.720000	0.93068|0.93068	0.650000|0.650000	0.86243|0.86243	CGC|ACG		0.502	MFSD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255931.1			8	117	0	0	0	1	0	8	117					T	191362263	C	T	191362263	3	4	428	1	0	0	0	0	1	0	0	0	9535	536	19	1	2008	1	MFSD6	2	191362263	Missense_Mutation	SNP	C	TCGA-XJ-A83H-01A-11D-A34U-08	18696144	191362263	51837110	7	20648											
PAX3	5077	broad.mit.edu	37	chr2	223065931	223065931	+	3'UTR	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctcttctccactgcttttgtCgaacgtgttcaaaaggattt	8	16	7	10	2	3	0	1	0	2	0	5	2	3	1	1	1	2	2	1	1	3	5			TCGA-XJ-A83H-01A-11D-A34U-08	TCGA-XJ-A83H-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c27050c-aef0-4f06-b6c3-fedca13d658a	eda129be-4306-443e-a904-e4d5d91c9eb7	g.chr2:223065931C>T	ENST00000350526.4	-	0	2288				PAX3_ENST00000336840.6_3'UTR|PAX3_ENST00000392070.2_3'UTR|PAX3_ENST00000464706.1_5'Flank|PAX3_ENST00000344493.4_3'UTR|PAX3_ENST00000392069.2_Missense_Mutation_p.D494N	NM_181457.3	NP_852122.1	P23760	PAX3_HUMAN	paired box 3						apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|developmental pigmentation (GO:0048066)|heart development (GO:0007507)|mammary gland specification (GO:0060594)|muscle organ development (GO:0007517)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural crest cell migration (GO:0001755)|neural tube closure (GO:0001843)|neuron fate commitment (GO:0048663)|organ morphogenesis (GO:0009887)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of somitogenesis (GO:0014807)|sensory perception of sound (GO:0007605)|spinal cord association neuron differentiation (GO:0021527)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)		PAX3/NCOA2(4)|PAX3/NCOA1(8)|PAX3/FOXO1(749)	NS(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(13)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	38		Renal(207;0.0183)		Epithelial(121;4.13e-10)|all cancers(144;1.85e-07)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CTGCTTTTGTCGAACGTGTTC	0.418			T	"FOXO1A, NCOA1"	alveolar rhabdomyosarcoma		Waardenburg syndrome; craniofacial-deafness-hand syndrome																															ENST00000392069.2				Dom	yes		2	2q35	5077	T	paired box gene 3	yes	Waardenburg syndrome; craniofacial-deafness-hand syndrome	M	"FOXO1A, NCOA1"		alveolar rhabdomyosarcoma	PAX3/NCOA2(4)|PAX3/NCOA1(8)|PAX3/FOXO1(749)	0				NS(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(13)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	38						c.(1480-1482)Gac>Aac		paired box 3							114	108	110					2																	223065931		2203	4300	6503	SO:0001624	3_prime_UTR_variant	5077				apoptosis|organ morphogenesis|positive regulation of transcription from RNA polymerase II promoter|sensory perception of sound|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:223065931C>T		CCDS2449.1, CCDS2450.1, CCDS2451.1, CCDS42825.1, CCDS2448.1, CCDS42826.1, CCDS46522.1, CCDS46523.1	2q36.1	2011-06-20	2007-07-12		ENSG00000135903	ENSG00000135903		"Paired boxes", "Homeoboxes / PRD class"	8617	protein-coding gene	gene with protein product		606597	"Waardenburg syndrome 1", "paired box gene 3 (Waardenburg syndrome 1)"	WS1		1347149	Standard	NM_181461		Approved	HUP2	uc002vmt.2	P23760	OTTHUMG00000133157	ENST00000350526.4:c.*712G>A	2.37:g.223065931C>T						PAX3_ENST00000350526.4_3'UTR|PAX3_ENST00000392070.2_3'UTR|PAX3_ENST00000344493.4_3'UTR|PAX3_ENST00000336840.6_3'UTR	p.D494N	NM_001127366.2|NM_181458.3|NM_181459.3	NP_001120838.1|NP_852123.1|NP_852124.1	P23760	PAX3_HUMAN		Epithelial(121;4.13e-10)|all cancers(144;1.85e-07)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	10	1845	-		Renal(207;0.0183)	0					G5E9C1|Q16448|Q494Z3|Q494Z4|Q53T90|Q6GSJ9|Q86UQ2|Q86UQ3	Missense_Mutation	SNP	ENST00000350526.4	37	c.1480G>A	CCDS42826.1	.	.	.	.	.	.	.	.	.	.	C	0.069	-1.206195	0.01568	.	.	ENSG00000135903	ENST00000392069	D	0.94280	-3.39	5.68	2.86	0.33363	.	1.631480	0.03626	N	0.237226	D	0.85622	0.5739	N	0.08118	0	0.54753	D	0.999981	B	0.09022	0.002	B	0.04013	0.001	T	0.65561	-0.6138	10	0.14656	T	0.56	.	9.3641	0.38215	0.0:0.7021:0.0:0.2979	.	494	G5E9C1	.	N	494	ENSP00000375921:D494N	ENSP00000375921:D494N	D	-	1	0	PAX3	222774175	0.990000	0.36364	0.008000	0.14137	0.018000	0.09664	0.788000	0.26872	0.398000	0.25338	0.655000	0.94253	GAC		0.418	PAX3-006	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000328670.1			6	68	0	0	0	1	0	6	68					T	223065931	C	T	223065931	1	4	428	0	1	0	0	0	0	0	0	0	11480	884	31	2		2	PAX3	2	223065931	3'UTR	SNP	C	TCGA-XJ-A83H-01A-11D-A34U-08	31703668	223065931	20133442	8	20649											
NBEAL2	23218	broad.mit.edu	37	chr3	47037252	47037252	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggccttcttcacggcggcCgggaccctggtggtggctgt	3	9	17	12	3	2	0	1	0	1	0	2	2	2	1	3	7	0	1	3	7	0	2			TCGA-XJ-A83H-01A-11D-A34U-08	TCGA-XJ-A83H-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c27050c-aef0-4f06-b6c3-fedca13d658a	eda129be-4306-443e-a904-e4d5d91c9eb7	g.chr3:47037252C>T	ENST00000450053.3	+	14	2126	c.1947C>T	c.(1945-1947)gcC>gcT	p.A649A	NBEAL2_ENST00000292309.5_Silent_p.A649A|NBEAL2_ENST00000383740.2_5'UTR	NM_015175.2	NP_055990.1	Q6ZNJ1	NBEL2_HUMAN	neurobeachin-like 2	649					blood coagulation (GO:0007596)|megakaryocyte development (GO:0035855)|platelet alpha granule organization (GO:0070889)|platelet formation (GO:0030220)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)				NS(1)|breast(1)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(9)|lung(9)|ovary(4)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Acute lymphoblastic leukemia(5;0.0534)		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)		TCACGGCGGCCGGGACCCTGG	0.597																																						ENST00000450053.3																			0				NS(1)|breast(1)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(9)|lung(9)|ovary(4)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	51						c.(1945-1947)gcC>gcT		neurobeachin-like 2							46	62	57					3																	47037252		1987	4153	6140	SO:0001819	synonymous_variant	23218						binding	g.chr3:47037252C>T	AB011112	CCDS46817.1	3p21.31	2014-09-17			ENSG00000160796	ENSG00000160796		"WD repeat domain containing"	31928	protein-coding gene	gene with protein product		614169					Standard	NM_015175		Approved	KIAA0540	uc003cqp.3	Q6ZNJ1	OTTHUMG00000156497	ENST00000450053.3:c.1947C>T	3.37:g.47037252C>T						NBEAL2_ENST00000292309.5_Silent_p.A649A|NBEAL2_ENST00000383740.2_5'UTR	p.A649A	NM_015175.2	NP_055990.1	Q6ZNJ1	NBEL2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)	14	2126	+		Acute lymphoblastic leukemia(5;0.0534)	649					O60288|Q6P994|Q6UX91|Q8NAC9	Silent	SNP	ENST00000450053.3	37	c.1947C>T	CCDS46817.1	.	.	.	.	.	.	.	.	.	.	C	9.823	1.186367	0.21870	.	.	ENSG00000160796	ENST00000416683	.	.	.	4.72	-4.44	0.03557	.	.	.	.	.	T	0.50463	0.1617	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.50874	-0.8776	4	.	.	.	.	8.1354	0.31052	0.0:0.4559:0.1215:0.4226	.	.	.	.	L	121	.	.	P	+	2	0	NBEAL2	47012256	0.000000	0.05858	0.860000	0.33809	0.986000	0.74619	-1.996000	0.01471	-0.567000	0.06046	-0.290000	0.09829	CCG		0.597	NBEAL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344363.3	XM_291064		4	48	0	0	0	1	0	4	48					T	47037252	C	T	47037252	2	4	428	1	0	0	0	0	0	0	0	1	10189	639	23	2		2	NBEAL2	3	47037252	Silent	SNP	C	TCGA-XJ-A83H-01A-11D-A34U-08		47037252	150985178	9	20650											
IL17RB	55540	broad.mit.edu	37	chr3	53892809	53892809	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ataaaggaacagttgtgctcTgcccacaaacaggcgtccct	12	8	9	12	1	1	0	0	0	1	0	2	1	2	1	2	2	4	2	2	2	4	2			TCGA-XJ-A83H-01A-11D-A34U-08	TCGA-XJ-A83H-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c27050c-aef0-4f06-b6c3-fedca13d658a	eda129be-4306-443e-a904-e4d5d91c9eb7	g.chr3:53892809T>G	ENST00000288167.3	+	9	820	c.811T>G	c.(811-813)Tgc>Ggc	p.C271G	RP11-884K10.7_ENST00000607783.1_RNA	NM_018725.3	NP_061195.2	Q9NRM6	I17RB_HUMAN	interleukin 17 receptor B	271					cytokine-mediated signaling pathway (GO:0019221)|defense response (GO:0006952)|regulation of cell growth (GO:0001558)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	cytokine receptor activity (GO:0004896)			breast(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)	13				BRCA - Breast invasive adenocarcinoma(193;0.000158)|KIRC - Kidney renal clear cell carcinoma(284;0.00588)|Kidney(284;0.00673)|OV - Ovarian serous cystadenocarcinoma(275;0.118)		AGTTGTGCTCTGCCCACAAAC	0.493																																						ENST00000288167.3																			0				breast(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)	13						c.(811-813)Tgc>Ggc		interleukin 17 receptor B							94	82	86					3																	53892809		2203	4300	6503	SO:0001583	missense	55540				defense response|regulation of cell growth	extracellular region|integral to plasma membrane	cytokine receptor activity	g.chr3:53892809T>G	AF212365	CCDS2874.1	3p21.1	2008-02-05		2003-07-09	ENSG00000056736	ENSG00000056736		"Interleukins and interleukin receptors"	18015	protein-coding gene	gene with protein product		605458	"interleukin 17B receptor"	IL17BR		10749887, 10815801	Standard	NM_018725		Approved	IL17RH1, EVI27, CRL4	uc003dha.3	Q9NRM6	OTTHUMG00000158280	ENST00000288167.3:c.811T>G	3.37:g.53892809T>G	ENSP00000288167:p.Cys271Gly						p.C271G	NM_018725.3	NP_061195.2	Q9NRM6	I17RB_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000158)|KIRC - Kidney renal clear cell carcinoma(284;0.00588)|Kidney(284;0.00673)|OV - Ovarian serous cystadenocarcinoma(275;0.118)	9	820	+			271					Q9BPZ0|Q9NRL4|Q9NRM5	Missense_Mutation	SNP	ENST00000288167.3	37	c.811T>G	CCDS2874.1	.	.	.	.	.	.	.	.	.	.	T	21.2	4.115808	0.77323	.	.	ENSG00000056736	ENST00000288167;ENST00000494338	T;T	0.22539	3.0;1.95	5.89	5.89	0.94794	.	0.000000	0.64402	D	0.000018	T	0.42404	0.1201	M	0.64997	1.995	0.41109	D	0.98572	D	0.89917	1.0	D	0.83275	0.996	T	0.20174	-1.0283	10	0.38643	T	0.18	-20.7985	12.6954	0.57001	0.0:0.0:0.0:1.0	.	271	Q9NRM6	I17RB_HUMAN	G	271;255	ENSP00000288167:C271G;ENSP00000418638:C255G	ENSP00000288167:C271G	C	+	1	0	IL17RB	53867849	0.968000	0.33430	0.846000	0.33378	0.318000	0.28184	3.611000	0.54132	2.251000	0.74343	0.533000	0.62120	TGC		0.493	IL17RB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350563.1	NM_172234		4	55	0	0	0	1	0	4	55					G	53892809	T	G	53892809	3	3	428	1	0	0	0	0	1	0	0	0	7640	1580	55	5	845	5	IL17RB	3	53892809	Missense_Mutation	SNP	T	TCGA-XJ-A83H-01A-11D-A34U-08	6855557	53892809	144129621	10	20651											
PRICKLE2	166336	broad.mit.edu	37	chr3	64085458	64085458	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caggctgcgaactgactctgCgctccggaactgcatggacg	8	7	13	13	4	1	1	0	1	1	0	2	4	2	3	1	3	5	3	1	3	2	0			TCGA-XJ-A83H-01A-11D-A34U-08	TCGA-XJ-A83H-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c27050c-aef0-4f06-b6c3-fedca13d658a	eda129be-4306-443e-a904-e4d5d91c9eb7	g.chr3:64085458C>T	ENST00000295902.6	-	8	2389	c.1804G>A	c.(1804-1806)Gca>Aca	p.A602T	PRICKLE2_ENST00000564377.1_Missense_Mutation_p.A658T|PRICKLE2-AS1_ENST00000460946.1_RNA|PRICKLE2-AS1_ENST00000476308.1_RNA|RP11-129B22.1_ENST00000482609.1_RNA	NM_198859.3	NP_942559.1	Q7Z3G6	PRIC2_HUMAN	prickle homolog 2 (Drosophila)	602					establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|neuron projection development (GO:0031175)	apicolateral plasma membrane (GO:0016327)|cytoplasm (GO:0005737)|lateral plasma membrane (GO:0016328)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|large_intestine(9)|liver(1)|lung(10)|ovary(4)|prostate(2)|skin(2)|stomach(1)	32		Lung NSC(201;0.136)		BRCA - Breast invasive adenocarcinoma(55;0.000971)|KIRC - Kidney renal clear cell carcinoma(15;0.00443)|Kidney(15;0.00497)		ACTGACTCTGCGCTCCGGAAC	0.552																																						ENST00000295902.6																			0				breast(2)|endometrium(1)|large_intestine(9)|liver(1)|lung(10)|ovary(4)|prostate(2)|skin(2)|stomach(1)	32						c.(1804-1806)Gca>Aca		prickle homolog 2 (Drosophila)							131	128	129					3																	64085458		2203	4300	6503	SO:0001583	missense	166336					cytoplasm|nuclear membrane	zinc ion binding	g.chr3:64085458C>T	AK127839	CCDS2902.1	3p14.3	2006-09-12	2006-09-12		ENSG00000163637	ENSG00000163637			20340	protein-coding gene	gene with protein product		608501	"prickle-like 2 (Drosophila)"			12525887	Standard	NM_198859		Approved	DKFZp686D143	uc003dmf.3	Q7Z3G6	OTTHUMG00000158789	ENST00000295902.6:c.1804G>A	3.37:g.64085458C>T	ENSP00000295902:p.Ala602Thr					PRICKLE2_ENST00000564377.1_Missense_Mutation_p.A658T|RP11-129B22.1_ENST00000482609.1_RNA|PRICKLE2-AS1_ENST00000460946.1_RNA|PRICKLE2-AS1_ENST00000476308.1_RNA	p.A602T	NM_198859.3	NP_942559.1	Q7Z3G6	PRIC2_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000971)|KIRC - Kidney renal clear cell carcinoma(15;0.00443)|Kidney(15;0.00497)	8	2389	-		Lung NSC(201;0.136)	602					Q0VF44	Missense_Mutation	SNP	ENST00000295902.6	37	c.1804G>A	CCDS2902.1	.	.	.	.	.	.	.	.	.	.	C	11.58	1.681400	0.29872	.	.	ENSG00000163637	ENST00000295902	D	0.85013	-1.93	5.62	5.62	0.85841	.	0.076272	0.56097	D	0.000040	T	0.73885	0.3644	N	0.16166	0.38	0.43230	D	0.995121	B	0.14012	0.009	B	0.06405	0.002	T	0.69327	-0.5174	10	0.07175	T	0.84	-15.0913	19.6573	0.95847	0.0:1.0:0.0:0.0	.	602	Q7Z3G6	PRIC2_HUMAN	T	602	ENSP00000295902:A602T	ENSP00000295902:A602T	A	-	1	0	PRICKLE2	64060498	1.000000	0.71417	0.999000	0.59377	0.969000	0.65631	3.229000	0.51278	2.655000	0.90218	0.591000	0.81541	GCA		0.552	PRICKLE2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000352219.1	NM_198859		8	106	0	0	0	1	0	8	106					T	64085458	C	T	64085458	3	4	428	1	0	0	0	0	1	0	0	0	12487	768	27	1	734	1	PRICKLE2	3	64085458	Missense_Mutation	SNP	C	TCGA-XJ-A83H-01A-11D-A34U-08	10192649	64085458	133936972	11	20652											
CCDC80	151887	broad.mit.edu	37	chr3	112324432	112324432	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcctgtctccgaagttgcatCgaatcaattaaatcgtacac	12	12	6	11	3	2	0	1	0	1	0	6	2	3	0	2	0	2	3	2	0	6	3			TCGA-XJ-A83H-01A-11D-A34U-08	TCGA-XJ-A83H-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c27050c-aef0-4f06-b6c3-fedca13d658a	eda129be-4306-443e-a904-e4d5d91c9eb7	g.chr3:112324432C>T	ENST00000206423.3	-	8	3638	c.2685G>A	c.(2683-2685)tcG>tcA	p.S895S	CCDC80_ENST00000439685.2_Silent_p.S895S	NM_199511.1|NM_199512.1	NP_955805.1|NP_955806.1	Q76M96	CCD80_HUMAN	coiled-coil domain containing 80	895					extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	basement membrane (GO:0005604)|interstitial matrix (GO:0005614)	heparin binding (GO:0008201)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(21)|ovary(3)|pancreas(2)|prostate(4)	51						GAAGTTGCATCGAATCAATTA	0.468																																						ENST00000206423.3																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(21)|ovary(3)|pancreas(2)|prostate(4)	51						c.(2683-2685)tcG>tcA		coiled-coil domain containing 80							126	103	110					3																	112324432		2203	4300	6503	SO:0001819	synonymous_variant	151887							g.chr3:112324432C>T	AY333429	CCDS2968.1	3q13.2	2010-12-24			ENSG00000091986	ENSG00000091986			30649	protein-coding gene	gene with protein product	"steroid sensitive gene 1"	608298				15325258, 18178152	Standard	XM_005247135		Approved	URB, SSG1, DRO1	uc003dzf.3	Q76M96	OTTHUMG00000159265	ENST00000206423.3:c.2685G>A	3.37:g.112324432C>T						CCDC80_ENST00000439685.2_Silent_p.S895S	p.S895S	NM_199511.1|NM_199512.1	NP_955805.1|NP_955806.1	Q76M96	CCD80_HUMAN			8	3638	-			895					D3DN67|Q5PR20|Q6GPG9|Q8IVT6|Q8NBV1|Q8NHY8	Silent	SNP	ENST00000206423.3	37	c.2685G>A	CCDS2968.1																																																																																				0.468	CCDC80-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354219.1	NM_199511		12	63	0	0	0	1	0	12	63					T	112324432	C	T	112324432	2	4	428	1	0	0	0	0	0	0	0	1	2854	871	31	2		2	CCDC80	3	112324432	Silent	SNP	C	TCGA-XJ-A83H-01A-11D-A34U-08	48238974	112324432	85697998	12	20653											
TXNDC6	347736	broad.mit.edu	37	chr3	138024911	138024911	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	catggttctctcttcatttgTtagaatttcaaacccagctt	9	17	5	10	0	4	1	2	0	2	1	5	1	4	1	1	1	2	3	1	1	3	6			TCGA-XJ-A83H-01A-11D-A34U-08	TCGA-XJ-A83H-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c27050c-aef0-4f06-b6c3-fedca13d658a	eda129be-4306-443e-a904-e4d5d91c9eb7	g.chr3:138024911T>G	ENST00000333911.3	-	8	598	c.571A>C	c.(571-573)Aca>Cca	p.T191P	NME9_ENST00000317876.4_Missense_Mutation_p.T130P|NME9_ENST00000484930.1_Missense_Mutation_p.T128P|NME9_ENST00000383180.2_Missense_Mutation_p.T130P|NME9_ENST00000536478.1_Missense_Mutation_p.T130P|NME9_ENST00000341790.5_Missense_Mutation_p.T128P			Q86XW9	TXND6_HUMAN	NME/NM23 family member 9	191	NDK.				cell redox homeostasis (GO:0045454)|CTP biosynthetic process (GO:0006241)|GTP biosynthetic process (GO:0006183)|UTP biosynthetic process (GO:0006228)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	ATP binding (GO:0005524)|nucleoside diphosphate kinase activity (GO:0004550)										TCTTCATTTGTTAGAATTTCA	0.363																																						ENST00000383180.2																			0											c.(388-390)Aca>Cca		NME/NM23 family member 9							125	122	123					3																	138024911		2203	4300	6503	SO:0001583	missense	347736				cell redox homeostasis|CTP biosynthetic process|GTP biosynthetic process|UTP biosynthetic process	cytoplasm|cytoskeleton	ATP binding|nucleoside diphosphate kinase activity	g.chr3:138024911T>G	AF196568	CCDS3099.1	3q22.3	2012-05-18	2012-05-18	2011-08-24	ENSG00000181322	ENSG00000181322			21343	protein-coding gene	gene with protein product			"thioredoxin domain containing 6", "NME gene family member 9", "NME family member 9"	TXNDC6		12569107, 19852809	Standard	NM_178130		Approved	TXL-2, NM23-H9	uc003ese.1	Q86XW9	OTTHUMG00000159823	ENST00000333911.3:c.571A>C	3.37:g.138024911T>G	ENSP00000335444:p.Thr191Pro					NME9_ENST00000341790.5_Missense_Mutation_p.T128P|NME9_ENST00000317876.4_Missense_Mutation_p.T130P|NME9_ENST00000536478.1_Missense_Mutation_p.T130P|NME9_ENST00000484930.1_Missense_Mutation_p.T128P|NME9_ENST00000333911.3_Missense_Mutation_p.T191P	p.T130P	NM_178130.2	NP_835231.1	Q86XW9	TXND6_HUMAN			9	625	-			191					Q7Z4A8|Q8N1V7	Missense_Mutation	SNP	ENST00000333911.3	37	c.388A>C		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	14.37|14.37	2.516517|2.516517	0.44763|0.44763	.|.	.|.	ENSG00000181322|ENSG00000181322	ENST00000474690|ENST00000383180;ENST00000317876;ENST00000484930;ENST00000341790;ENST00000536478;ENST00000333911;ENST00000475751	.|T;T;T;T;T;T;T	.|0.55413	.|0.52;0.52;0.52;0.52;0.52;0.52;0.52	5.16|5.16	-3.24|-3.24	0.05094|0.05094	.|.	.|0.109676	.|0.64402	.|D	.|0.000008	T|T	0.42337|0.42337	0.1198|0.1198	L|L	0.27053|0.27053	0.805|0.805	0.20403|0.20403	N|N	0.999906|0.999906	.|P;D;P	.|0.54397	.|0.941;0.966;0.731	.|P;P;B	.|0.53809	.|0.735;0.602;0.242	T|T	0.44314|0.44314	-0.9336|-0.9336	5|10	.|0.56958	.|D	.|0.05	-1.9234|-1.9234	6.7553|6.7553	0.23510|0.23510	0.1412:0.4894:0.0:0.3694|0.1412:0.4894:0.0:0.3694	.|.	.|128;191;130	.|Q86XW9-3;Q86XW9;Q86XW9-2	.|.;TXND6_HUMAN;.	T|P	121|130;130;128;128;130;191;191	.|ENSP00000372667:T130P;ENSP00000321929:T130P;ENSP00000419882:T128P;ENSP00000341084:T128P;ENSP00000440143:T130P;ENSP00000335444:T191P;ENSP00000419147:T191P	.|ENSP00000321929:T130P	N|T	-|-	2|1	0|0	TXNDC6|TXNDC6	139507601|139507601	0.992000|0.992000	0.36948|0.36948	0.000000|0.000000	0.03702|0.03702	0.929000|0.929000	0.56500|0.56500	0.744000|0.744000	0.26245|0.26245	-0.507000|-0.507000	0.06549|0.06549	-0.353000|-0.353000	0.07706|0.07706	AAC|ACA		0.363	NME9-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000357583.1	NM_178130		4	69	0	0	0	1	0	4	69					G	138024911	T	G	138024911	3	3	428	1	0	0	0	0	1	0	0	0	16797	1725	60	5	419	5	TXNDC6	3	138024911	Missense_Mutation	SNP	T	TCGA-XJ-A83H-01A-11D-A34U-08	25700479	138024911	59997519	13	20654											
KIAA0922	23240	broad.mit.edu	37	chr4	154510059	154510059	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	taggaaatcctaattggaatGggagcctttctctggatcaa	12	12	10	7	0	2	0	1	0	1	0	4	4	3	4	2	4	1	0	2	4	5	4			TCGA-XJ-A83H-01A-11D-A34U-08	TCGA-XJ-A83H-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c27050c-aef0-4f06-b6c3-fedca13d658a	eda129be-4306-443e-a904-e4d5d91c9eb7	g.chr4:154510059G>A	ENST00000409663.3	+	16	1619	c.1567G>A	c.(1567-1569)Ggg>Agg	p.G523R	KIAA0922_ENST00000409959.3_Missense_Mutation_p.G524R|KIAA0922_ENST00000440693.1_Missense_Mutation_p.G524R	NM_015196.3	NP_056011.3	A2VDJ0	T131L_HUMAN	KIAA0922	523						integral component of membrane (GO:0016021)				breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(16)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	63	all_hematologic(180;0.093)	Renal(120;0.118)				TAATTGGAATGGGAGCCTTTC	0.313																																						ENST00000409959.3																			0				breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(16)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						c.(1570-1572)Ggg>Agg		KIAA0922							89	90	90					4																	154510059		2203	4300	6503	SO:0001583	missense	23240					integral to membrane		g.chr4:154510059G>A	AK096538	CCDS3783.2, CCDS47148.1	4q31.3	2008-02-05			ENSG00000121210	ENSG00000121210			29146	protein-coding gene	gene with protein product						10231032, 11230166	Standard	NM_015196		Approved	DKFZp586H1322, TMEM131L	uc010ipp.3	A2VDJ0	OTTHUMG00000153244	ENST00000409663.3:c.1567G>A	4.37:g.154510059G>A	ENSP00000386574:p.Gly523Arg					KIAA0922_ENST00000440693.1_Missense_Mutation_p.G524R|KIAA0922_ENST00000409663.3_Missense_Mutation_p.G523R	p.G524R	NM_001131007.1	NP_001124479.1	A2VDJ0	T131L_HUMAN			16	1619	+	all_hematologic(180;0.093)	Renal(120;0.118)	523					B3KRV3|Q7LGA7|Q86Y92|Q8WU56|Q9H065|Q9Y2D7	Missense_Mutation	SNP	ENST00000409663.3	37	c.1570G>A	CCDS3783.2	.	.	.	.	.	.	.	.	.	.	G	2.342	-0.350855	0.05173	.	.	ENSG00000121210	ENST00000409663;ENST00000440693;ENST00000409959;ENST00000240487	T;T;T;T	0.15256	2.65;2.44;2.65;2.44	5.95	0.264	0.15607	.	0.679746	0.16482	N	0.212492	T	0.07279	0.0184	N	0.10874	0.06	0.09310	N	1	B;B;B	0.06786	0.001;0.001;0.001	B;B;B	0.08055	0.003;0.002;0.001	T	0.37150	-0.9718	10	0.23302	T	0.38	-0.0244	6.2218	0.20685	0.5166:0.2494:0.234:0.0	.	524;524;523	A2VDJ0-3;A2VDJ0-5;A2VDJ0	.;.;T131L_HUMAN	R	523;524;524;385	ENSP00000386574:G523R;ENSP00000409663:G524R;ENSP00000386787:G524R;ENSP00000240487:G385R	ENSP00000240487:G385R	G	+	1	0	KIAA0922	154729509	0.023000	0.18921	0.026000	0.17262	0.816000	0.46133	-0.033000	0.12246	-0.290000	0.09025	-0.142000	0.14014	GGG		0.313	KIAA0922-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000330370.1	NM_015196		5	82	0	0	0	1	0	5	82					A	154510059	G	A	154510059	3	1	428	1	0	0	0	0	1	0	0	0	8201	1348	47	3	1632	3	KIAA0922	4	154510059	Missense_Mutation	SNP	G	TCGA-XJ-A83H-01A-11D-A34U-08		154510059	36644217	14	20655											
HMGB2	3148	broad.mit.edu	37	chr4	174253268	174253273	+	In_Frame_Del	DEL	TCTTCT	TCTTCT	-																															cctcttcctcctcatcttcaTcttcttcttcctcctcctcc																								rs375341097		TCGA-XJ-A83H-01A-11D-A34U-08	TCGA-XJ-A83H-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c27050c-aef0-4f06-b6c3-fedca13d658a	eda129be-4306-443e-a904-e4d5d91c9eb7	g.chr4:174253268_174253273delTCTTCT	ENST00000296503.5	-	5	1461_1466	c.588_593delAGAAGA	c.(586-594)gaagaagat>gat	p.EE196del	HMGB2_ENST00000438704.2_In_Frame_Del_p.EE196del|RP11-798M19.3_ENST00000507803.1_RNA|HMGB2_ENST00000446922.2_In_Frame_Del_p.EE196del			P26583	HMGB2_HUMAN	high mobility group box 2	196	Asp/Glu-rich (acidic).				apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|base-excision repair, DNA ligation (GO:0006288)|cell chemotaxis (GO:0060326)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to lipopolysaccharide (GO:0071222)|chromatin organization (GO:0006325)|DNA ligation involved in DNA repair (GO:0051103)|DNA topological change (GO:0006265)|male gonad development (GO:0008584)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive chemotaxis (GO:0050918)|positive regulation of DNA binding (GO:0043388)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of megakaryocyte differentiation (GO:0045654)|positive regulation of nuclease activity (GO:0032075)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to steroid hormone (GO:0048545)|spermatid nucleus differentiation (GO:0007289)|V(D)J recombination (GO:0033151)	condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|protein complex (GO:0043234)	chemoattractant activity (GO:0042056)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|DNA binding, bending (GO:0008301)|double-stranded DNA binding (GO:0003690)|poly(A) RNA binding (GO:0044822)|RAGE receptor binding (GO:0050786)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription regulatory region DNA binding (GO:0044212)			endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|urinary_tract(3)	14		Prostate(90;0.0132)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_hematologic(60;0.107)|all_neural(102;0.122)		all cancers(43;9.58e-18)|Epithelial(43;3.75e-16)|OV - Ovarian serous cystadenocarcinoma(60;6.24e-09)|STAD - Stomach adenocarcinoma(60;0.00273)|GBM - Glioblastoma multiforme(59;0.0064)|LUSC - Lung squamous cell carcinoma(193;0.0903)|Kidney(143;0.249)		ctcatcttcatcttcttcttcctcct	0.466																																						ENST00000296503.5																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|urinary_tract(3)	14						c.(586-594)gat>ga		high mobility group box 2																																				SO:0001651	inframe_deletion	3148				base-excision repair, DNA ligation|cell chemotaxis|cellular response to lipopolysaccharide|DNA fragmentation involved in apoptotic nuclear change|DNA topological change|negative regulation of transcription, DNA-dependent|nucleosome assembly|phosphatidylinositol-mediated signaling|positive regulation of DNA binding|positive regulation of endothelial cell proliferation|positive regulation of erythrocyte differentiation|positive regulation of megakaryocyte differentiation|positive regulation of nuclease activity|positive regulation of transcription from RNA polymerase II promoter|V(D)J recombination	condensed chromosome|extracellular space|nucleolus|nucleoplasm|perinuclear region of cytoplasm|protein complex	chemoattractant activity|damaged DNA binding|DNA bending activity|double-stranded DNA binding|RAGE receptor binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding|transcription regulatory region DNA binding	g.chr4:174253268_174253273delTCTTCT		CCDS3816.1	4q31	2011-07-01	2011-04-05	2002-08-16	ENSG00000164104	ENSG00000164104		"High-mobility group / Canonical"	5000	protein-coding gene	gene with protein product		163906	"high-mobility group (nonhistone chromosomal) protein 2", "high-mobility group box 2"	HMG2		1754403	Standard	NM_002129		Approved		uc011ckc.1	P26583	OTTHUMG00000160799	ENST00000296503.5:c.588_593delAGAAGA	4.37:g.174253268_174253273delTCTTCT	ENSP00000296503:p.Glu196_Glu197del					HMGB2_ENST00000446922.2_In_Frame_Del_p.EED196del|HMGB2_ENST00000438704.2_In_Frame_Del_p.EED196del	p.EED196del			P26583	HMGB2_HUMAN		all cancers(43;9.58e-18)|Epithelial(43;3.75e-16)|OV - Ovarian serous cystadenocarcinoma(60;6.24e-09)|STAD - Stomach adenocarcinoma(60;0.00273)|GBM - Glioblastoma multiforme(59;0.0064)|LUSC - Lung squamous cell carcinoma(193;0.0903)|Kidney(143;0.249)	5	1461_1466	-		Prostate(90;0.0132)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_hematologic(60;0.107)|all_neural(102;0.122)	196			Asp/Glu-rich (acidic).		B2R4K8|D3DP37|Q5U072	In_Frame_Del	DEL	ENST00000296503.5	37	c.588_593delAGAAGA	CCDS3816.1																																																																																				0.466	HMGB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362362.1	NM_001130688		22	81						22	81	---	---	---	---	-	174253273	TCTTCT	-	174253268	7	5	428	1	0	1	0	1	0	0	0	0	7226	1435	50	0	40	0	HMGB2	4	174253268	In_Frame_Del	DEL	TCTTCT	TCGA-XJ-A83H-01A-11D-A34U-08	19743209	174253268	16901008	15	20656											
MTNR1A	4543	broad.mit.edu	37	chr4	187455416	187455416	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtccctgcacggaggttgggCaggacggccgccagcgtcag	6	5	17	13	4	1	0	1	0	0	0	2	2	2	2	3	5	2	3	3	5	0	1			TCGA-XJ-A83H-01A-11D-A34U-08	TCGA-XJ-A83H-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c27050c-aef0-4f06-b6c3-fedca13d658a	eda129be-4306-443e-a904-e4d5d91c9eb7	g.chr4:187455416C>T	ENST00000307161.5	-	2	681	c.480G>A	c.(478-480)ctG>ctA	p.L160L	RP11-215A19.2_ENST00000509111.1_Intron	NM_005958.3	NP_005949.1	P48039	MTR1A_HUMAN	melatonin receptor 1A	160					circadian rhythm (GO:0007623)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|mating behavior (GO:0007617)|positive regulation of cGMP biosynthetic process (GO:0030828)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	hormone binding (GO:0042562)|melatonin receptor activity (GO:0008502)|organic cyclic compound binding (GO:0097159)			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	14		all_cancers(14;6.39e-56)|all_epithelial(14;1.48e-41)|all_lung(41;2.45e-15)|Lung NSC(41;7.26e-15)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00335)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Colorectal(36;0.0161)|Renal(120;0.0183)|all_neural(102;0.202)		OV - Ovarian serous cystadenocarcinoma(60;7.63e-12)|BRCA - Breast invasive adenocarcinoma(30;6.68e-07)|GBM - Glioblastoma multiforme(59;3.44e-05)|LUSC - Lung squamous cell carcinoma(40;0.000106)|STAD - Stomach adenocarcinoma(60;0.000279)|READ - Rectum adenocarcinoma(43;0.159)	Agomelatine(DB06594)|Melatonin(DB01065)|Ramelteon(DB00980)	GGAGGTTGGGCAGGACGGCCG	0.597																																						ENST00000307161.5																			0				breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	14						c.(478-480)ctG>ctA		melatonin receptor 1A	Melatonin(DB01065)|Ramelteon(DB00980)						123	95	104					4																	187455416		2203	4300	6503	SO:0001819	synonymous_variant	4543				circadian rhythm|G-protein signaling, coupled to cyclic nucleotide second messenger|mating behavior	integral to plasma membrane	melatonin receptor activity	g.chr4:187455416C>T		CCDS3848.1	4q35	2012-08-08				ENSG00000168412		"GPCR / Class A : Melatonin receptors"	7463	protein-coding gene	gene with protein product		600665				7558006	Standard	NM_005958		Approved	MEL-1A-R	uc003izd.1	P48039		ENST00000307161.5:c.480G>A	4.37:g.187455416C>T						RP11-215A19.2_ENST00000509111.1_Intron	p.L160L	NM_005958.3	NP_005949.1	P48039	MTR1A_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;7.63e-12)|BRCA - Breast invasive adenocarcinoma(30;6.68e-07)|GBM - Glioblastoma multiforme(59;3.44e-05)|LUSC - Lung squamous cell carcinoma(40;0.000106)|STAD - Stomach adenocarcinoma(60;0.000279)|READ - Rectum adenocarcinoma(43;0.159)	2	681	-		all_cancers(14;6.39e-56)|all_epithelial(14;1.48e-41)|all_lung(41;2.45e-15)|Lung NSC(41;7.26e-15)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00335)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Colorectal(36;0.0161)|Renal(120;0.0183)|all_neural(102;0.202)	160					A0AVC5|B0M0L2	Silent	SNP	ENST00000307161.5	37	c.480G>A	CCDS3848.1																																																																																				0.597	MTNR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360189.1			16	66	0	0	0	1	0	16	66					T	187455416	C	T	187455416	2	4	428	1	0	0	0	0	0	0	0	1	9951	697	25	3		3	MTNR1A	4	187455416	Silent	SNP	C	TCGA-XJ-A83H-01A-11D-A34U-08	13202148	187455416	3698860	16	20657											
HMGCS1	3157	broad.mit.edu	37	chr5	43293008	43293008	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgaagacatctggtgccacAccagttcttgaatcaagcct	11	9	9	12	1	3	2	1	1	2	1	3	3	3	2	3	1	2	1	3	1	3	2			TCGA-XJ-A83H-01A-11D-A34U-08	TCGA-XJ-A83H-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c27050c-aef0-4f06-b6c3-fedca13d658a	eda129be-4306-443e-a904-e4d5d91c9eb7	g.chr5:43293008A>T	ENST00000325110.6	-	9	1457	c.1251T>A	c.(1249-1251)ggT>ggA	p.G417G	HMGCS1_ENST00000433297.2_Silent_p.G417G|CTD-2636A23.2_ENST00000569313.1_RNA	NM_001098272.2	NP_001091742.1	Q01581	HMCS1_HUMAN	3-hydroxy-3-methylglutaryl-CoA synthase 1 (soluble)	417					brain development (GO:0007420)|cellular lipid metabolic process (GO:0044255)|cellular response to cholesterol (GO:0071397)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cholesterol biosynthetic process (GO:0006695)|isoprenoid biosynthetic process (GO:0008299)|lipid metabolic process (GO:0006629)|liver development (GO:0001889)|male gonad development (GO:0008584)|response to acid chemical (GO:0001101)|response to drug (GO:0042493)|response to lipoprotein particle (GO:0055094)|response to low light intensity stimulus (GO:0009645)|response to purine-containing compound (GO:0014074)|response to tellurium ion (GO:0046690)|response to vitamin E (GO:0033197)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	drug binding (GO:0008144)|hydroxymethylglutaryl-CoA synthase activity (GO:0004421)|isomerase activity (GO:0016853)|organic acid binding (GO:0043177)			NS(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|stomach(1)|urinary_tract(1)	15						CTGGTGCCACACCAGTTCTTG	0.353																																						ENST00000325110.6																			0				NS(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|stomach(1)|urinary_tract(1)	15						c.(1249-1251)ggT>ggA		3-hydroxy-3-methylglutaryl-CoA synthase 1 (soluble)							73	77	75					5																	43293008		2202	4300	6502	SO:0001819	synonymous_variant	3157				cholesterol biosynthetic process|isoprenoid biosynthetic process	cytosol|soluble fraction	hydroxymethylglutaryl-CoA synthase activity	g.chr5:43293008A>T		CCDS34154.1	5p14-p13	2012-10-02	2010-04-30			ENSG00000112972	2.3.3.10		5007	protein-coding gene	gene with protein product	"3-hydroxy-3-methylglutaryl coenzyme A (HMG-CoA) synthase"	142940	"3-hydroxy-3-methylglutaryl-Coenzyme A synthase 1 (soluble)"	HMGCS			Standard	NM_001098272		Approved		uc003jnq.5	Q01581		ENST00000325110.6:c.1251T>A	5.37:g.43293008A>T						HMGCS1_ENST00000433297.2_Silent_p.G417G	p.G417G	NM_001098272.2	NP_001091742.1	Q01581	HMCS1_HUMAN			9	1457	-			417					B2RDL8	Silent	SNP	ENST00000325110.6	37	c.1251T>A	CCDS34154.1																																																																																				0.353	HMGCS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368022.1			13	142	0	0	0	1	0	13	142					T	43293008	A	T	43293008	2	4	428	1	0	0	0	0	0	0	0	1	7232	146	6	5		5	HMGCS1	5	43293008	Silent	SNP	A	TCGA-XJ-A83H-01A-11D-A34U-08		43293008	137622252	17	20658											
EMB	133418	broad.mit.edu	37	chr5	49706712	49706712	+	Splice_Site	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcaagttattaatactgaccTttgaaattaaatgttcccct	13	16	4	8	0	1	2	1	2	0	0	2	2	2	2	3	0	1	2	3	0	7	6	rs201823568		TCGA-XJ-A83H-01A-11D-A34U-08	TCGA-XJ-A83H-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c27050c-aef0-4f06-b6c3-fedca13d658a	eda129be-4306-443e-a904-e4d5d91c9eb7	g.chr5:49706712T>A	ENST00000303221.5	-	4	686	c.471A>T	c.(469-471)aaA>aaT	p.K157N	EMB_ENST00000506190.1_5'UTR|EMB_ENST00000514111.1_Splice_Site_p.K107N|EMB_ENST00000508934.1_Splice_Site_p.K103N	NM_198449.2	NP_940851.1	Q6PCB8	EMB_HUMAN	embigin	157	Ig-like V-type 1.				cell adhesion (GO:0007155)|plasma membrane lactate transport (GO:0035879)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|synapse (GO:0045202)	organic cyclic compound binding (GO:0097159)			breast(2)|endometrium(3)|large_intestine(4)|lung(4)|skin(2)	15	Lung SC(58;0.218)	Lung NSC(810;0.0795)				AATACTGACCTTTGAAATTAA	0.274																																						ENST00000303221.5																			0				breast(2)|endometrium(3)|large_intestine(4)|lung(4)|skin(2)	15						c.e4+1		embigin							34	36	35					5																	49706712		2199	4284	6483	SO:0001630	splice_region_variant	133418					integral to membrane		g.chr5:49706712T>A	BC059398	CCDS3953.1	5q11.1	2013-01-29	2010-06-24		ENSG00000170571	ENSG00000170571		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	30465	protein-coding gene	gene with protein product		615669	"embigin homolog (mouse)"			9438341	Standard	NM_198449		Approved	MGC71745	uc003jom.3	Q6PCB8	OTTHUMG00000131161	ENST00000303221.5:c.472+1A>T	5.37:g.49706712T>A						EMB_ENST00000514111.1_Splice_Site_p.K107_splice|EMB_ENST00000506190.1_5'UTR|EMB_ENST00000508934.1_Splice_Site_p.K103_splice	p.K157_splice	NM_198449.2	NP_940851.1	Q6PCB8	EMB_HUMAN			4	686	-	Lung SC(58;0.218)	Lung NSC(810;0.0795)	157			Ig-like V-type 1.		B7Z6S3|B7Z902	Splice_Site	SNP	ENST00000303221.5	37	c.472_splice	CCDS3953.1	.	.	.	.	.	.	.	.	.	.	T	16.77	3.215967	0.58452	.	.	ENSG00000170571	ENST00000303221;ENST00000510295;ENST00000508934;ENST00000514111	T;T;T	0.49720	0.78;0.77;0.78	5.05	3.86	0.44501	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	0.507102	0.21095	N	0.080245	T	0.46328	0.1387	L	0.50333	1.59	0.31605	N	0.652241	P;P	0.50369	0.704;0.934	B;P	0.47915	0.236;0.561	T	0.53606	-0.8415	9	.	.	.	-11.1926	9.1148	0.36750	0.0:0.0:0.1838:0.8162	.	103;157	D6RDX7;Q6PCB8	.;EMB_HUMAN	N	157;129;103;107	ENSP00000302289:K157N;ENSP00000425215:K103N;ENSP00000426404:K107N	.	K	-	3	2	EMB	49742469	1.000000	0.71417	0.999000	0.59377	0.947000	0.59692	2.767000	0.47637	0.747000	0.32809	0.451000	0.29950	AAA		0.274	EMB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253853.1	NM_198449	Missense_Mutation	3	27	0	0	0	1	0	3	27					A	49706712	T	A	49706712	5	1	428	1	0	0	0	0	0	0	1	0	5085	1623	56	5	536	5	EMB	5	49706712	Splice_Site	SNP	T	TCGA-XJ-A83H-01A-11D-A34U-08	6413704	49706712	131208548	18	20659											
F2R	2149	broad.mit.edu	37	chr5	76028690	76028690	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatgcagtccctctcctggCgtactctgggaagggcttcc	5	10	11	15	1	2	0	0	0	2	0	5	1	4	1	4	3	2	3	4	3	2	2			TCGA-XJ-A83H-01A-11D-A34U-08	TCGA-XJ-A83H-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c27050c-aef0-4f06-b6c3-fedca13d658a	eda129be-4306-443e-a904-e4d5d91c9eb7	g.chr5:76028690C>T	ENST00000319211.4	+	2	905	c.640C>T	c.(640-642)Cgt>Tgt	p.R214C		NM_001992.3	NP_001983.2	P25116	PAR1_HUMAN	coagulation factor II (thrombin) receptor	214					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of MAPKK activity (GO:0000186)|anatomical structure morphogenesis (GO:0009653)|blood coagulation (GO:0007596)|connective tissue replacement involved in inflammatory response wound healing (GO:0002248)|establishment of synaptic specificity at neuromuscular junction (GO:0007529)|G-protein coupled receptor signaling pathway (GO:0007186)|homeostasis of number of cells within a tissue (GO:0048873)|inflammatory response (GO:0006954)|negative regulation of cell proliferation (GO:0008285)|negative regulation of glomerular filtration (GO:0003105)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of renin secretion into blood stream (GO:1900134)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|platelet activation (GO:0030168)|platelet dense granule organization (GO:0060155)|positive regulation of blood coagulation (GO:0030194)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-6 secretion (GO:2000778)|positive regulation of interleukin-8 secretion (GO:2000484)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of Rho protein signal transduction (GO:0035025)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of vasoconstriction (GO:0045907)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of blood coagulation (GO:0030193)|regulation of interleukin-1 beta production (GO:0032651)|regulation of sensory perception of pain (GO:0051930)|release of sequestered calcium ion into cytosol (GO:0051209)|response to lipopolysaccharide (GO:0032496)|response to wounding (GO:0009611)|STAT protein import into nucleus (GO:0007262)|tyrosine phosphorylation of STAT protein (GO:0007260)	caveola (GO:0005901)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|platelet dense tubular network (GO:0031094)|postsynaptic membrane (GO:0045211)	G-protein alpha-subunit binding (GO:0001965)|G-protein beta-subunit binding (GO:0031681)|G-protein coupled receptor activity (GO:0004930)|receptor binding (GO:0005102)|thrombin receptor activity (GO:0015057)			NS(1)|breast(1)|endometrium(3)|kidney(1)|lung(7)|ovary(3)	16		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Prostate(461;0.00955)|Ovarian(174;0.0129)		all cancers(79;4.43e-43)	Streptokinase(DB00086)	CCTCTCCTGGCGTACTCTGGG	0.537																																						ENST00000319211.4																			0				NS(1)|breast(1)|endometrium(3)|kidney(1)|lung(7)|ovary(3)	16						c.(640-642)Cgt>Tgt		coagulation factor II (thrombin) receptor	Streptokinase(DB00086)						169	168	169					5																	76028690		2203	4300	6503	SO:0001583	missense	2149				activation of caspase activity|anatomical structure morphogenesis|connective tissue replacement involved in inflammatory response wound healing|negative regulation of cell proliferation|platelet activation|positive regulation of blood coagulation|positive regulation of cell migration|positive regulation of collagen biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of JAK-STAT cascade|positive regulation of MAPKKK cascade|positive regulation of release of sequestered calcium ion into cytosol|positive regulation of transcription, DNA-dependent|STAT protein import into nucleus|tyrosine phosphorylation of STAT protein	caveola|extracellular region|Golgi apparatus|integral to plasma membrane|platelet dense tubular network	receptor binding|thrombin receptor activity	g.chr5:76028690C>T	M62424	CCDS4032.1	5q13	2012-08-08			ENSG00000181104	ENSG00000181104		"GPCR / Class A : Protease activated receptors"	3537	protein-coding gene	gene with protein product		187930				8395910	Standard	NM_001992		Approved	TR, CF2R, PAR1, PAR-1	uc003ken.4	P25116	OTTHUMG00000131299	ENST00000319211.4:c.640C>T	5.37:g.76028690C>T	ENSP00000321326:p.Arg214Cys						p.R214C	NM_001992.3	NP_001983.2	P25116	PAR1_HUMAN		all cancers(79;4.43e-43)	2	905	+		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Prostate(461;0.00955)|Ovarian(174;0.0129)	214					Q53XV0|Q96RF7|Q9BUN4	Missense_Mutation	SNP	ENST00000319211.4	37	c.640C>T	CCDS4032.1	.	.	.	.	.	.	.	.	.	.	C	28.8	4.955751	0.92726	.	.	ENSG00000181104	ENST00000319211	T	0.39406	1.08	5.07	5.07	0.68467	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.71558	0.3354	M	0.88181	2.935	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.77146	-0.2695	10	0.87932	D	0	-28.3121	19.0012	0.92834	0.0:1.0:0.0:0.0	.	214	P25116	PAR1_HUMAN	C	214	ENSP00000321326:R214C	ENSP00000321326:R214C	R	+	1	0	F2R	76064446	1.000000	0.71417	0.999000	0.59377	0.977000	0.68977	5.622000	0.67750	2.786000	0.95864	0.561000	0.74099	CGT		0.537	F2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254068.2			6	139	0	0	0	1	0	6	139					T	76028690	C	T	76028690	3	4	428	1	0	0	0	0	1	0	0	0	5343	768	27	1	646	1	F2R	5	76028690	Missense_Mutation	SNP	C	TCGA-XJ-A83H-01A-11D-A34U-08	26321978	76028690	104886570	19	20660											
CHD1	1105	broad.mit.edu	37	chr5	98234109	98234112	+	Frame_Shift_Del	DEL	AACC	AACC	-																															tttgcagtaataatcaggatAaccagctgctgacttttgat																								rs201680764		TCGA-XJ-A83H-01A-11D-A34U-08	TCGA-XJ-A83H-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c27050c-aef0-4f06-b6c3-fedca13d658a	eda129be-4306-443e-a904-e4d5d91c9eb7	g.chr5:98234109_98234112delAACC	ENST00000284049.3	-	9	1362_1365	c.1213_1216delGGTT	c.(1213-1218)ggttatfs	p.GY405fs		NM_001270.2	NP_001261.2	O14646	CHD1_HUMAN	chromodomain helicase DNA binding protein 1	405	Chromo 2. {ECO:0000255|PROSITE- ProRule:PRU00053}.				chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|methylated histone binding (GO:0035064)	p.G405V(1)		NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	49		all_cancers(142;5.36e-08)|all_epithelial(76;6.97e-11)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|all_lung(232;0.00119)|Ovarian(225;0.024)|Colorectal(57;0.117)		COAD - Colon adenocarcinoma(37;0.0717)	Epirubicin(DB00445)	TAATCAGGATAACCAGCTGCTGAC	0.363																																						ENST00000284049.3																			1	Substitution - Missense(1)	p.G405V(1)	lung(1)	NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	49						c.(1213-1218)atfs		chromodomain helicase DNA binding protein 1	Epirubicin(DB00445)																																			SO:0001589	frameshift_variant	1105				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|methylated histone residue binding	g.chr5:98234109_98234112delAACC	AF006513	CCDS34204.1	5q15-q21	2008-07-18			ENSG00000153922	ENSG00000153922			1915	protein-coding gene	gene with protein product		602118				8460153, 9326634	Standard	XM_005271866		Approved		uc003knf.3	O14646	OTTHUMG00000162744	ENST00000284049.3:c.1213_1216delGGTT	5.37:g.98234109_98234112delAACC	ENSP00000284049:p.Gly405fs						p.GY405fs	NM_001270.2	NP_001261.2	O14646	CHD1_HUMAN		COAD - Colon adenocarcinoma(37;0.0717)	9	1362_1365	-		all_cancers(142;5.36e-08)|all_epithelial(76;6.97e-11)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|all_lung(232;0.00119)|Ovarian(225;0.024)|Colorectal(57;0.117)	405			Chromo 2.		Q17RZ3	Frame_Shift_Del	DEL	ENST00000284049.3	37	c.1213_1216delGGTT	CCDS34204.1																																																																																				0.363	CHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370295.1	NM_001270		7	25						7	25	---	---	---	---	-	98234112	AACC	-	98234109	7	5	428	1	0	1	0	1	0	0	0	0	3323	362	13	0	4024	0	CHD1	5	98234109	Frame_Shift_Del	DEL	AACC	TCGA-XJ-A83H-01A-11D-A34U-08	22205419	98234109	82681151	20	20661											
FBN2	2201	broad.mit.edu	37	chr5	127653927	127653927	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gcgtgttgacacataggccaTtgacacagtttataggatct	11	12	10	8	1	1	2	0	2	1	0	1	3	1	3	1	2	0	2	1	2	3	6			TCGA-XJ-A83H-01A-11D-A34U-08	TCGA-XJ-A83H-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c27050c-aef0-4f06-b6c3-fedca13d658a	eda129be-4306-443e-a904-e4d5d91c9eb7	g.chr5:127653927T>C	ENST00000508053.1	-	42	5605	c.4631A>G	c.(4630-4632)aAt>aGt	p.N1544S	FBN2_ENST00000262464.4_Missense_Mutation_p.N1544S			P35556	FBN2_HUMAN	fibrillin 2	1544	EGF-like 26; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				anatomical structure morphogenesis (GO:0009653)|bone trabecula formation (GO:0060346)|embryonic limb morphogenesis (GO:0030326)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|sequestering of TGFbeta in extracellular matrix (GO:0035583)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		ACATAGGCCATTGACACAGTT	0.433																																						ENST00000508053.1																			0				NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197						c.(4630-4632)aAt>aGt		fibrillin 2							214	204	207					5																	127653927		2203	4300	6503	SO:0001583	missense	2201				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent	g.chr5:127653927T>C	U03272	CCDS34222.1	5q23-q31	2008-08-01	2008-08-01			ENSG00000138829			3604	protein-coding gene	gene with protein product	"fibrillin 5"	612570	"congenital contractural arachnodactyly"	CCA		1852206, 8120105	Standard	NM_001999		Approved	DA9	uc003kuu.3	P35556		ENST00000508053.1:c.4631A>G	5.37:g.127653927T>C	ENSP00000424571:p.Asn1544Ser					FBN2_ENST00000262464.4_Missense_Mutation_p.N1544S	p.N1544S			P35556	FBN2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)	42	5605	-		all_cancers(142;0.0216)|Prostate(80;0.0551)	1544			EGF-like 26; calcium-binding.		B4DU01|Q59ES6	Missense_Mutation	SNP	ENST00000508053.1	37	c.4631A>G	CCDS34222.1	.	.	.	.	.	.	.	.	.	.	T	13.38	2.220522	0.39201	.	.	ENSG00000138829	ENST00000262464;ENST00000508053	D;D	0.94497	-3.44;-3.44	5.16	4.02	0.46733	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.085587	0.50627	D	0.000108	D	0.87354	0.6156	N	0.16862	0.45	0.43448	D	0.995638	P	0.36909	0.573	B	0.36666	0.23	D	0.85003	0.0901	10	0.20046	T	0.44	.	11.2314	0.48914	0.0:0.0759:0.0:0.9241	.	1544	P35556	FBN2_HUMAN	S	1544	ENSP00000262464:N1544S;ENSP00000424571:N1544S	ENSP00000262464:N1544S	N	-	2	0	FBN2	127681826	1.000000	0.71417	0.916000	0.36221	0.986000	0.74619	4.042000	0.57347	2.291000	0.77112	0.533000	0.62120	AAT		0.433	FBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371618.2	NM_001999		11	189	0	0	0	1	0	11	189					C	127653927	T	C	127653927	3	2	428	1	0	0	0	0	1	0	0	0	5703	1493	52	4	4227	4	FBN2	5	127653927	Missense_Mutation	SNP	T	TCGA-XJ-A83H-01A-11D-A34U-08	29419818	127653927	53261333	21	20662											
RAPGEF6	51735	broad.mit.edu	37	chr5	130799890	130799890	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaacagcatgaaaaactactTctttagctgtggtgtcttta	12	14	8	7	0	2	1	0	1	2	0	2	2	2	1	0	1	5	2	0	1	6	6			TCGA-XJ-A83H-01A-11D-A34U-08	TCGA-XJ-A83H-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c27050c-aef0-4f06-b6c3-fedca13d658a	eda129be-4306-443e-a904-e4d5d91c9eb7	g.chr5:130799890T>C	ENST00000509018.1	-	18	2529	c.2324A>G	c.(2323-2325)gAa>gGa	p.E775G	CTC-432M15.3_ENST00000514667.1_Missense_Mutation_p.E825G|RAPGEF6_ENST00000296859.6_Missense_Mutation_p.E775G|RAPGEF6_ENST00000512052.1_Missense_Mutation_p.E490G|RAPGEF6_ENST00000510071.1_Missense_Mutation_p.E775G|RAPGEF6_ENST00000308008.6_Missense_Mutation_p.E775G|RAPGEF6_ENST00000307984.5_Missense_Mutation_p.E780G|RAPGEF6_ENST00000507093.1_Missense_Mutation_p.E775G	NM_001164386.1|NM_016340.5	NP_001157858.1|NP_057424.3	Q8TEU7	RPGF6_HUMAN	Rap guanine nucleotide exchange factor (GEF) 6	775	Ras-associating. {ECO:0000255|PROSITE- ProRule:PRU00166}.				positive regulation of GTPase activity (GO:0043547)|Ras protein signal transduction (GO:0007265)|regulation of GTPase activity (GO:0043087)|regulation of small GTPase mediated signal transduction (GO:0051056)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	GTP-dependent protein binding (GO:0030742)|guanyl-nucleotide exchange factor activity (GO:0005085)|Ras GTPase binding (GO:0017016)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|skin(1)|stomach(1)	31			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0721)		AAAAACTACTTCTTTAGCTGT	0.373																																					Melanoma(168;435 1955 13113 13877 23213)	ENST00000509018.1																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|skin(1)|stomach(1)	31						c.(2323-2325)gAa>gGa		Rap guanine nucleotide exchange factor (GEF) 6							96	84	88					5																	130799890		2203	4300	6503	SO:0001583	missense	51735				Ras protein signal transduction|regulation of GTPase activity|regulation of small GTPase mediated signal transduction	cytoplasm|plasma membrane	GTP-dependent protein binding|guanyl-nucleotide exchange factor activity|Ras GTPase binding	g.chr5:130799890T>C	AF117947	CCDS34225.1, CCDS54897.1, CCDS54898.1, CCDS54899.1, CCDS54900.1	5q31.1	2008-02-05	2004-03-01	2004-03-02	ENSG00000158987	ENSG00000158987			20655	protein-coding gene	gene with protein product		610499	"PDZ domain containing guanine nucleotide exchange factor (GEF) 2"	PDZGEF2		11524421, 12095257	Standard	NM_016340		Approved	RA-GEF-2, PDZ-GEF2	uc010jdi.2	Q8TEU7	OTTHUMG00000162683	ENST00000509018.1:c.2324A>G	5.37:g.130799890T>C	ENSP00000421684:p.Glu775Gly					RAPGEF6_ENST00000510071.1_Missense_Mutation_p.E775G|RAPGEF6_ENST00000307984.5_Missense_Mutation_p.E780G|RAPGEF6_ENST00000308008.6_Missense_Mutation_p.E775G|RAPGEF6_ENST00000512052.1_Missense_Mutation_p.E490G|FNIP1_ENST00000514667.1_Missense_Mutation_p.E825G|RAPGEF6_ENST00000507093.1_Missense_Mutation_p.E775G|RAPGEF6_ENST00000296859.6_Missense_Mutation_p.E775G	p.E775G	NM_001164386.1|NM_016340.5	NP_001157858.1|NP_057424.3	Q8TEU7	RPGF6_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0721)	18	2529	-			775			Ras-associating.		A3KN82|A5PLL6|B7ZML2|E9PDV7|Q8NI21|Q8TEU6|Q96PC1	Missense_Mutation	SNP	ENST00000509018.1	37	c.2324A>G	CCDS34225.1	.	.	.	.	.	.	.	.	.	.	T	34	5.295205	0.95574	.	.	ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000217128	ENST00000509018;ENST00000307984;ENST00000507093;ENST00000296859;ENST00000358714;ENST00000512052;ENST00000308008;ENST00000510071;ENST00000514667	T;T;T;T;T;T;T;T	0.24538	1.85;1.85;1.85;1.85;1.85;1.85;1.85;1.85	5.64	5.64	0.86602	Ras-association (3);Ras guanine nucleotide exchange factor, domain (1);	0.045225	0.85682	D	0.000000	T	0.50650	0.1628	M	0.73962	2.25	0.80722	D	1	D;P;P;D;D;P;P	0.53619	0.961;0.932;0.917;0.961;0.961;0.951;0.868	P;P;P;P;D;P;P	0.63703	0.889;0.811;0.64;0.852;0.917;0.823;0.843	T	0.54370	-0.8304	10	0.87932	D	0	.	15.854	0.78960	0.0:0.0:0.0:1.0	.	775;775;775;490;825;780;775	A3KN82;B7ZML2;Q8TEU7-2;D6RE77;E9PCH4;Q8TEU7-3;Q8TEU7	.;.;.;.;.;.;RPGF6_HUMAN	G	775;780;775;775;780;490;775;775;825	ENSP00000421684:E775G;ENSP00000309298:E780G;ENSP00000426081:E775G;ENSP00000296859:E775G;ENSP00000426910:E490G;ENSP00000311419:E775G;ENSP00000425389:E775G;ENSP00000426948:E825G	ENSP00000426948:E825G	E	-	2	0	RAPGEF6;FNIP1	130827789	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.655000	0.83696	2.142000	0.66516	0.528000	0.53228	GAA		0.373	RAPGEF6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000370059.1	NM_016340		15	43	0	0	0	1	0	15	43					C	130799890	T	C	130799890	3	2	428	1	0	0	0	0	1	0	0	0	13048	1783	62	4	2992	4	RAPGEF6	5	130799890	Missense_Mutation	SNP	T	TCGA-XJ-A83H-01A-11D-A34U-08	3145963	130799890	50115370	22	20663											
NOTCH4	4855	broad.mit.edu	37	chr6	32180342	32180342	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cacaagcagtggaaggagggCccagtctggaggcagtggga	11	4	18	8	0	1	0	0	0	1	0	1	4	1	4	1	6	1	2	1	6	2	0			TCGA-XJ-A83H-01A-11D-A34U-08	TCGA-XJ-A83H-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c27050c-aef0-4f06-b6c3-fedca13d658a	eda129be-4306-443e-a904-e4d5d91c9eb7	g.chr6:32180342C>A	ENST00000375023.3	-	17	2727	c.2589G>T	c.(2587-2589)ggG>ggT	p.G863G	NOTCH4_ENST00000465528.1_5'UTR	NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4	863	EGF-like 22. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cell differentiation (GO:0030154)|cell fate determination (GO:0001709)|embryo development (GO:0009790)|endothelial cell morphogenesis (GO:0001886)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|mammary gland development (GO:0030879)|morphogenesis of a branching structure (GO:0001763)|negative regulation of cell differentiation (GO:0045596)|negative regulation of endothelial cell differentiation (GO:0045602)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|patterning of blood vessels (GO:0001569)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|protein heterodimerization activity (GO:0046982)|receptor activity (GO:0004872)			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						GGAAGGAGGGCCCAGTCTGGA	0.607																																						ENST00000375023.3																			0				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						c.(2587-2589)ggG>ggT		notch 4							153	129	137					6																	32180342		1510	2708	4218	SO:0001819	synonymous_variant	4855				cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity	g.chr6:32180342C>A		CCDS34420.1	6p21.3	2013-01-10	2010-06-24		ENSG00000204301	ENSG00000204301		"Ankyrin repeat domain containing"	7884	protein-coding gene	gene with protein product		164951	"Notch (Drosophila) homolog 4", "Notch homolog 4 (Drosophila)"	INT3		7835890	Standard	NM_004557		Approved		uc003obb.3	Q99466	OTTHUMG00000031044	ENST00000375023.3:c.2589G>T	6.37:g.32180342C>A						NOTCH4_ENST00000465528.1_5'UTR	p.G863G	NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN			17	2727	-			863			EGF-like 22.		B0V183|B0V1X5|O00306|Q5SSY7|Q99458|Q99940|Q9H3S8|Q9UII9|Q9UIJ0	Silent	SNP	ENST00000375023.3	37	c.2589G>T	CCDS34420.1																																																																																				0.607	NOTCH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076045.2			7	67	1	0	2.7689e-08	1	3.24813e-08	7	67					A	32180342	C	A	32180342	2	1	428	1	0	0	0	0	0	0	0	1	10551	726	26	5		5	NOTCH4	6	32180342	Silent	SNP	C	TCGA-XJ-A83H-01A-11D-A34U-08		32180342	138934725	23	20664											
CUL9	23113	broad.mit.edu	37	chr6	43182853	43182853	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agaagggtccaaatcctcctGgaaccctgggccacactgtt	10	8	10	13	0	0	1	0	0	0	1	3	2	3	2	5	3	1	1	5	3	3	1			TCGA-XJ-A83H-01A-11D-A34U-08	TCGA-XJ-A83H-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c27050c-aef0-4f06-b6c3-fedca13d658a	eda129be-4306-443e-a904-e4d5d91c9eb7	g.chr6:43182853G>C	ENST00000252050.4	+	30	5809	c.5725G>C	c.(5725-5727)Gga>Cga	p.G1909R	RP3-330M21.5_ENST00000500590.1_RNA|CUL9_ENST00000354495.3_Missense_Mutation_p.G1799R|CUL9_ENST00000372647.2_Missense_Mutation_p.G1881R	NM_015089.2	NP_055904.1	Q8IWT3	CUL9_HUMAN	cullin 9	1909					microtubule cytoskeleton organization (GO:0000226)|protein ubiquitination (GO:0016567)|regulation of mitosis (GO:0007088)|ubiquitin-dependent protein catabolic process (GO:0006511)	cullin-RING ubiquitin ligase complex (GO:0031461)|cytoplasm (GO:0005737)	ATP binding (GO:0005524)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						AAATCCTCCTGGAACCCTGGG	0.567																																						ENST00000252050.4																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						c.(5725-5727)Gga>Cga		cullin 9							96	99	98					6																	43182853		2203	4300	6503	SO:0001583	missense	23113				ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex|cytoplasm	ATP binding|ubiquitin protein ligase binding|zinc ion binding	g.chr6:43182853G>C	AB014608	CCDS4890.1	6p21.1	2011-05-24			ENSG00000112659	ENSG00000112659			15982	protein-coding gene	gene with protein product	"parkin-like cytoplasmic p53 binding protein", "p53-associated parkin-like cytoplasmic protein"	607489				17332328, 10521492, 12526791	Standard	NM_015089		Approved	H7AP1, KIAA0708, PARC	uc003ouk.3	Q8IWT3	OTTHUMG00000014723	ENST00000252050.4:c.5725G>C	6.37:g.43182853G>C	ENSP00000252050:p.Gly1909Arg					RP3-330M21.5_ENST00000500590.1_RNA|CUL9_ENST00000372647.2_Missense_Mutation_p.G1881R|CUL9_ENST00000354495.3_Missense_Mutation_p.G1799R	p.G1909R	NM_015089.2	NP_055904.1	Q8IWT3	CUL9_HUMAN			30	5809	+			1909					O75188|Q5TCY3|Q68CP2|Q68D92|Q8N3W9|Q9BU56	Missense_Mutation	SNP	ENST00000252050.4	37	c.5725G>C	CCDS4890.1	.	.	.	.	.	.	.	.	.	.	G	7.693	0.691543	0.15039	.	.	ENSG00000112659	ENST00000252050;ENST00000354495;ENST00000372647	T;T;T	0.72942	-0.7;-0.7;-0.54	4.81	2.85	0.33270	Cullin protein, neddylation domain (1);	0.216395	0.38326	N	0.001733	T	0.19287	0.0463	N	0.17474	0.49	0.26344	N	0.97731	P;B;B	0.34462	0.454;0.39;0.39	B;B;B	0.31290	0.082;0.127;0.127	T	0.38134	-0.9675	10	0.02654	T	1	-12.5862	3.2712	0.06883	0.221:0.0:0.5705:0.2085	.	1799;1881;1909	Q8IWT3-3;E9PEZ1;Q8IWT3	.;.;CUL9_HUMAN	R	1909;1799;1881	ENSP00000252050:G1909R;ENSP00000346490:G1799R;ENSP00000361730:G1881R	ENSP00000252050:G1909R	G	+	1	0	CUL9	43290831	0.898000	0.30612	0.872000	0.34217	0.977000	0.68977	1.313000	0.33585	1.239000	0.43787	0.655000	0.94253	GGA		0.567	CUL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040582.2	NM_015089		31	57	0	0	0	1	0	31	57					C	43182853	G	C	43182853	3	2	428	1	0	0	0	0	1	0	0	0	4061	1349	47	5	5839	5	CUL9	6	43182853	Missense_Mutation	SNP	G	TCGA-XJ-A83H-01A-11D-A34U-08	11002511	43182853	127932214	24	20665											
TMEM63B	55362	broad.mit.edu	37	chr6	44119747	44119747	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gaggcgcaacgtgaagcgggTacggccgcctggggcagcag	8	3	19	11	5	0	1	0	1	0	0	0	2	0	1	2	5	4	4	2	5	3	1			TCGA-XJ-A83H-01A-11D-A34U-08	TCGA-XJ-A83H-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c27050c-aef0-4f06-b6c3-fedca13d658a	eda129be-4306-443e-a904-e4d5d91c9eb7	g.chr6:44119747T>C	ENST00000259746.9	+	19	2019		c.e19+2		TMEM63B_ENST00000323267.6_Splice_Site			Q5T3F8	CSCL2_HUMAN	transmembrane protein 63B						ion transport (GO:0006811)	integral component of membrane (GO:0016021)	nucleotide binding (GO:0000166)			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|pancreas(2)|prostate(2)|stomach(4)	35	all_cancers(18;1.66e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00309)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0215)			GTGAAGCGGGTACGGCCGCCT	0.697											OREG0017465	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000259746.9																			0				breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|pancreas(2)|prostate(2)|stomach(4)	35						c.e19+2		transmembrane protein 63B							15	12	13					6																	44119747		2199	4277	6476	SO:0001630	splice_region_variant	55362					integral to membrane	nucleotide binding|protein binding	g.chr6:44119747T>C	BC022095	CCDS34461.1	6p21.1	2008-02-05	2005-07-25	2005-07-25	ENSG00000137216	ENSG00000137216			17735	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 110"	C6orf110			Standard	XM_005249211		Approved	DKFZp434P0531, dJ421H19.2	uc003owr.3	Q5T3F8	OTTHUMG00000014757	ENST00000259746.9:c.1836+2T>C	6.37:g.44119747T>C			OREG0017465	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	921	TMEM63B_ENST00000323267.6_Splice_Site				Q5T3F8	TM63B_HUMAN	Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0215)		19	2019	+	all_cancers(18;1.66e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00309)|Ovarian(13;0.0273)							B9EGU3|Q5T3F9|Q6AHX4|Q6P5A0|Q8N219|Q8NDE1|Q9NSG5	Splice_Site	SNP	ENST00000259746.9	37		CCDS34461.1	.	.	.	.	.	.	.	.	.	.	T	26.0	4.690670	0.88735	.	.	ENSG00000137216	ENST00000259746;ENST00000323267;ENST00000371893	.	.	.	5.03	5.03	0.67393	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.0814	0.64925	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	TMEM63B	44227725	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.802000	0.85969	2.110000	0.64415	0.455000	0.32223	.		0.697	TMEM63B-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040712.2	XM_166410	Intron	4	20	0	0	0	1	0	4	20					C	44119747	T	C	44119747	5	2	428	1	0	0	0	0	0	0	1	0	16188	1652	57	4	1908	4	TMEM63B	6	44119747	Splice_Site	SNP	T	TCGA-XJ-A83H-01A-11D-A34U-08	936894	44119747	126995320	25	20666											
EIF3B	8662	broad.mit.edu	37	chr7	2415103	2415103	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcactacatggcttccgacGtcgaatgggatcctactggg	9	9	12	11	3	0	0	0	0	0	0	3	3	2	1	2	3	3	2	2	3	3	3	rs139537965	byFrequency	TCGA-XJ-A83H-01A-11D-A34U-08	TCGA-XJ-A83H-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c27050c-aef0-4f06-b6c3-fedca13d658a	eda129be-4306-443e-a904-e4d5d91c9eb7	g.chr7:2415103G>A	ENST00000360876.4	+	14	2025	c.1969G>A	c.(1969-1971)Gtc>Atc	p.V657I	EIF3B_ENST00000397011.2_Missense_Mutation_p.V657I	NM_001037283.1	NP_001032360.1			eukaryotic translation initiation factor 3, subunit B											breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|skin(1)	24		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0833)|OV - Ovarian serous cystadenocarcinoma(56;7.76e-14)		GGCTTCCGACGTCGAATGGGA	0.552																																						ENST00000360876.4																			0				breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|skin(1)	24						c.(1969-1971)Gtc>Atc		eukaryotic translation initiation factor 3, subunit B		G	ILE/VAL,ILE/VAL	0,4406		0,0,2203	207	149	169		1969,1969	4.6	0.1	7	dbSNP_134	169	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	EIF3B	NM_001037283.1,NM_003751.3	29,29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign,benign	657/815,657/815	2415103	1,13005	2203	4300	6503	SO:0001583	missense	8662				regulation of translational initiation	cytosol|eukaryotic translation initiation factor 3 complex	nucleotide binding|protein complex scaffold|translation initiation factor activity	g.chr7:2415103G>A	U62583	CCDS5332.1	7p22	2013-02-12	2007-07-27	2007-07-27	ENSG00000106263	ENSG00000106263		"RNA binding motif (RRM) containing"	3280	protein-coding gene	gene with protein product		603917	"eukaryotic translation initiation factor 3, subunit 9 eta, 116kDa"	EIF3S9		8995410	Standard	NM_001037283		Approved	PRT1, eIF3b	uc003sly.3	P55884	OTTHUMG00000022839	ENST00000360876.4:c.1969G>A	7.37:g.2415103G>A	ENSP00000354125:p.Val657Ile					EIF3B_ENST00000397011.2_Missense_Mutation_p.V657I	p.V657I	NM_001037283.1	NP_001032360.1	P55884	EIF3B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0833)|OV - Ovarian serous cystadenocarcinoma(56;7.76e-14)	14	2025	+		Ovarian(82;0.0253)	657						Missense_Mutation	SNP	ENST00000360876.4	37	c.1969G>A	CCDS5332.1	.	.	.	.	.	.	.	.	.	.	G	9.703	1.154881	0.21371	0.0	1.16E-4	ENSG00000106263	ENST00000314800;ENST00000360876;ENST00000397011;ENST00000489558	T;T	0.05925	3.37;3.37	5.46	4.59	0.56863	Translation initiation factor 2A, beta propellor-like domain (1);Six-bladed beta-propeller, TolB-like (1);	0.053071	0.85682	D	0.000000	T	0.05777	0.0151	L	0.31157	0.91	0.51767	D	0.999933	B	0.33266	0.404	B	0.32211	0.142	T	0.47182	-0.9137	10	0.21540	T	0.41	-37.8853	13.8681	0.63600	0.0744:0.0:0.9256:0.0	.	657	P55884	EIF3B_HUMAN	I	657;657;657;581	ENSP00000354125:V657I;ENSP00000380206:V657I	ENSP00000316638:V657I	V	+	1	0	EIF3B	2381629	1.000000	0.71417	0.066000	0.19879	0.015000	0.08874	9.670000	0.98625	1.319000	0.45190	-0.136000	0.14681	GTC		0.552	EIF3B-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207006.1			11	118	0	0	0	1	0	11	118					A	2415103	G	A	2415103	3	1	428	1	0	0	0	0	1	0	0	0	5013	1145	40	1	2023	1	EIF3B	7	2415103	Missense_Mutation	SNP	G	TCGA-XJ-A83H-01A-11D-A34U-08		2415103	156723560	26	20667											
SLC26A4	5172	broad.mit.edu	37	chr7	107340565	107340565	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	agtgaagattcttagattttCcagtcctattttctatggca	10	17	7	7	0	2	3	0	1	2	2	4	3	4	3	2	1	0	1	2	1	4	8			TCGA-XJ-A83H-01A-11D-A34U-08	TCGA-XJ-A83H-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c27050c-aef0-4f06-b6c3-fedca13d658a	eda129be-4306-443e-a904-e4d5d91c9eb7	g.chr7:107340565C>A	ENST00000265715.3	+	15	1876	c.1652C>A	c.(1651-1653)tCc>tAc	p.S551Y	SLC26A4_ENST00000543100.1_Missense_Mutation_p.S120Y|SLC26A4_ENST00000480841.1_3'UTR|SLC26A4_ENST00000541474.1_Missense_Mutation_p.S112Y|SLC26A4_ENST00000544569.1_Missense_Mutation_p.S138Y	NM_000441.1	NP_000432.1	O43511	S26A4_HUMAN	solute carrier family 26 (anion exchanger), member 4	551	STAS. {ECO:0000255|PROSITE- ProRule:PRU00198}.				chloride transmembrane transport (GO:1902476)|inorganic anion transport (GO:0015698)|ion transport (GO:0006811)|regulation of pH (GO:0006885)|regulation of protein localization (GO:0032880)|sensory perception of sound (GO:0007605)|sulfate transmembrane transport (GO:1902358)|sulfate transport (GO:0008272)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	chloride transmembrane transporter activity (GO:0015108)|iodide transmembrane transporter activity (GO:0015111)|secondary active sulfate transmembrane transporter activity (GO:0008271)|sulfate transmembrane transporter activity (GO:0015116)			central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(8)|lung(16)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						CTTAGATTTTCCAGTCCTATT	0.308									Pendred syndrome																													ENST00000265715.3																			0				central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(8)|lung(16)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						c.(1651-1653)tCc>tAc		solute carrier family 26 (anion exchanger), member 4							115	120	118					7																	107340565		2202	4299	6501	SO:0001583	missense	5172	Pendred syndrome	Familial Cancer Database	Goiter-Deafness syndrome	regulation of pH|regulation of protein localization|sensory perception of sound	apical plasma membrane|integral to membrane	chloride transmembrane transporter activity|inorganic anion exchanger activity|iodide transmembrane transporter activity|secondary active sulfate transmembrane transporter activity	g.chr7:107340565C>A	AF030880	CCDS5746.1	7q31	2013-07-18	2013-07-18		ENSG00000091137	ENSG00000091137		"Solute carriers"	8818	protein-coding gene	gene with protein product	"pendrin"	605646	"solute carrier family 26, member 4"	DFNB4		9500541, 11087667	Standard	NM_000441		Approved	PDS	uc003vep.3	O43511	OTTHUMG00000154807	ENST00000265715.3:c.1652C>A	7.37:g.107340565C>A	ENSP00000265715:p.Ser551Tyr					SLC26A4_ENST00000543100.1_Missense_Mutation_p.S120Y|SLC26A4_ENST00000480841.1_3'UTR|SLC26A4_ENST00000544569.1_Missense_Mutation_p.S138Y|SLC26A4_ENST00000541474.1_Missense_Mutation_p.S112Y	p.S551Y	NM_000441.1	NP_000432.1	O43511	S26A4_HUMAN			15	1876	+			551			STAS.		B7Z266|O43170	Missense_Mutation	SNP	ENST00000265715.3	37	c.1652C>A	CCDS5746.1	.	.	.	.	.	.	.	.	.	.	C	14.37	2.516119	0.44763	.	.	ENSG00000091137	ENST00000265715;ENST00000541474;ENST00000544569;ENST00000543100	D;D;D;D	0.89270	-2.49;-2.49;-2.49;-2.49	5.55	4.59	0.56863	Sulphate transporter/antisigma-factor antagonist STAS (4);	0.246012	0.34777	N	0.003691	D	0.86460	0.5938	L	0.43152	1.355	0.37615	D	0.921064	B;B;B	0.21309	0.029;0.036;0.054	B;B;B	0.27262	0.022;0.04;0.078	D	0.85618	0.1262	10	0.54805	T	0.06	.	17.1044	0.86658	0.1353:0.8647:0.0:0.0	.	112;138;551	F5H104;B7Z6M6;O43511	.;.;S26A4_HUMAN	Y	551;112;138;120	ENSP00000265715:S551Y;ENSP00000439743:S112Y;ENSP00000437427:S138Y;ENSP00000441209:S120Y	ENSP00000265715:S551Y	S	+	2	0	SLC26A4	107127801	0.999000	0.42202	1.000000	0.80357	0.991000	0.79684	2.870000	0.48451	2.624000	0.88883	0.563000	0.77884	TCC		0.308	SLC26A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337148.1	NM_000441		5	60	1	0	0.000602214	1	0.000633363	5	60					A	107340565	C	A	107340565	3	1	428	1	0	0	0	0	1	0	0	0	14519	855	30	5	1706	5	SLC26A4	7	107340565	Missense_Mutation	SNP	C	TCGA-XJ-A83H-01A-11D-A34U-08	104925462	107340565	51798098	27	20668											
SULF1	23213	broad.mit.edu	37	chr8	70515888	70515888	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgatacattcctagtggaaaGagggtaattattggttcctg	11	14	11	5	0	0	2	0	1	0	1	2	3	2	3	2	3	1	2	2	3	5	7			TCGA-XJ-A83H-01A-11D-A34U-08	TCGA-XJ-A83H-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c27050c-aef0-4f06-b6c3-fedca13d658a	eda129be-4306-443e-a904-e4d5d91c9eb7	g.chr8:70515888G>C	ENST00000260128.4	+	12	1961	c.1244G>C	c.(1243-1245)aGa>aCa	p.R415T	SULF1_ENST00000402687.4_Missense_Mutation_p.R415T|SULF1_ENST00000521946.1_3'UTR|SULF1_ENST00000419716.3_Missense_Mutation_p.R415T|SULF1_ENST00000458141.2_Missense_Mutation_p.R415T	NM_015170.2	NP_055985.2	Q8IWU6	SULF1_HUMAN	sulfatase 1	415					apoptotic process (GO:0006915)|bone development (GO:0060348)|cartilage development (GO:0051216)|chondrocyte development (GO:0002063)|embryonic skeletal system development (GO:0048706)|esophagus smooth muscle contraction (GO:0014846)|glial cell-derived neurotrophic factor receptor signaling pathway (GO:0035860)|glomerular basement membrane development (GO:0032836)|glomerular filtration (GO:0003094)|heparan sulfate proteoglycan metabolic process (GO:0030201)|innervation (GO:0060384)|kidney development (GO:0001822)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell migration (GO:0030336)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|negative regulation of prostatic bud formation (GO:0060686)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of Wnt signaling pathway (GO:0030177)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	arylsulfatase activity (GO:0004065)|calcium ion binding (GO:0005509)|N-acetylglucosamine-6-sulfatase activity (GO:0008449)			breast(2)|central_nervous_system(3)|endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	Breast(64;0.0654)		Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)			CTAGTGGAAAGAGGGTAATTA	0.398																																						ENST00000260128.4																			0				breast(2)|central_nervous_system(3)|endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	52						c.(1243-1245)aGa>aCa		sulfatase 1							101	97	98					8																	70515888		2203	4300	6503	SO:0001583	missense	23213				apoptosis|bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding	g.chr8:70515888G>C	AB029000	CCDS6204.1	8q13.2	2014-09-11			ENSG00000137573	ENSG00000137573			20391	protein-coding gene	gene with protein product		610012				12368295	Standard	NM_015170		Approved	KIAA1077, SULF-1	uc003xyd.2	Q8IWU6	OTTHUMG00000164466	ENST00000260128.4:c.1244G>C	8.37:g.70515888G>C	ENSP00000260128:p.Arg415Thr					SULF1_ENST00000521946.1_3'UTR|SULF1_ENST00000419716.3_Missense_Mutation_p.R415T|SULF1_ENST00000458141.2_Missense_Mutation_p.R415T|SULF1_ENST00000402687.4_Missense_Mutation_p.R415T	p.R415T	NM_015170.2	NP_055985.2	Q8IWU6	SULF1_HUMAN	Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)		12	1961	+	Breast(64;0.0654)		415					Q86YV8|Q8NCA2|Q9UPS5	Missense_Mutation	SNP	ENST00000260128.4	37	c.1244G>C	CCDS6204.1	.	.	.	.	.	.	.	.	.	.	G	28.6	4.930748	0.92389	.	.	ENSG00000137573	ENST00000458141;ENST00000260128;ENST00000402687;ENST00000419716	D;D;D;D	0.99136	-5.47;-5.47;-5.47;-5.47	5.92	5.92	0.95590	Alkaline phosphatase-like, alpha/beta/alpha (1);Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.000000	0.85682	D	0.000000	D	0.98909	0.9630	M	0.79343	2.45	0.80722	D	1	B	0.29766	0.256	B	0.42422	0.387	D	0.98440	1.0586	10	0.66056	D	0.02	.	20.3343	0.98733	0.0:0.0:1.0:0.0	.	415	Q8IWU6	SULF1_HUMAN	T	415	ENSP00000403040:R415T;ENSP00000260128:R415T;ENSP00000385704:R415T;ENSP00000390315:R415T	ENSP00000260128:R415T	R	+	2	0	SULF1	70678442	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.869000	0.99810	2.822000	0.97130	0.650000	0.86243	AGA		0.398	SULF1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378885.2	NM_015170		3	46	0	0	0	1	0	3	46					C	70515888	G	C	70515888	3	2	428	1	0	0	0	0	1	0	0	0	15369	942	33	5	1274	5	SULF1	8	70515888	Missense_Mutation	SNP	G	TCGA-XJ-A83H-01A-11D-A34U-08		70515888	75848134	28	20669											
DKK1	22943	broad.mit.edu	37	chr10	54076405	54076405	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tccaagatctgtaaacctgtCctgaaagaaggtcaagtgtg	13	10	10	8	0	2	3	1	1	1	2	4	3	4	3	3	1	1	1	3	1	6	1			TCGA-XJ-A83H-01A-11D-A34U-08	TCGA-XJ-A83H-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c27050c-aef0-4f06-b6c3-fedca13d658a	eda129be-4306-443e-a904-e4d5d91c9eb7	g.chr10:54076405C>A	ENST00000373970.3	+	4	778	c.639C>A	c.(637-639)gtC>gtA	p.V213V	PRKG1-AS1_ENST00000420193.1_RNA	NM_012242.2	NP_036374.1	O94907	DKK1_HUMAN	dickkopf WNT signaling pathway inhibitor 1	213	DKK-type Cys-2.				cell morphogenesis involved in differentiation (GO:0000904)|embryonic limb morphogenesis (GO:0030326)|endoderm formation (GO:0001706)|extracellular negative regulation of signal transduction (GO:1900116)|face morphogenesis (GO:0060325)|forebrain development (GO:0030900)|hair follicle development (GO:0001942)|mesoderm formation (GO:0001707)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of canonical Wnt signaling pathway involved in cardiac muscle cell fate commitment (GO:1901296)|negative regulation of cardiac muscle cell differentiation (GO:2000726)|negative regulation of mesodermal cell fate specification (GO:0042662)|negative regulation of pathway-restricted SMAD protein phosphorylation (GO:0060394)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|negative regulation of protein complex assembly (GO:0031333)|negative regulation of skeletal muscle tissue development (GO:0048642)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of Wnt signaling pathway (GO:0030178)|positive regulation of heart induction by negative regulation of canonical Wnt signaling pathway (GO:0090082)|regulation of endodermal cell fate specification (GO:0042663)|regulation of receptor internalization (GO:0002090)|response to retinoic acid (GO:0032526)|Wnt signaling pathway involved in somitogenesis (GO:0090244)	extracellular space (GO:0005615)|plasma membrane (GO:0005886)	growth factor activity (GO:0008083)|low-density lipoprotein particle receptor binding (GO:0050750)|receptor antagonist activity (GO:0048019)|signal transducer activity (GO:0004871)			kidney(2)|large_intestine(4)|lung(7)|ovary(1)|upper_aerodigestive_tract(2)	16						GTAAACCTGTCCTGAAAGAAG	0.473																																						ENST00000373970.3																			0				kidney(2)|large_intestine(4)|lung(7)|ovary(1)|upper_aerodigestive_tract(2)	16						c.(637-639)gtC>gtA		dickkopf WNT signaling pathway inhibitor 1							129	118	122					10																	54076405		2203	4300	6503	SO:0001819	synonymous_variant	22943				negative regulation of peptidyl-serine phosphorylation|negative regulation of protein complex assembly|negative regulation of transcription from RNA polymerase II promoter|positive regulation of heart induction by negative regulation of canonical Wnt receptor signaling pathway|regulation of receptor internalization	extracellular space|plasma membrane	growth factor activity|low-density lipoprotein particle receptor binding|receptor antagonist activity|signal transducer activity	g.chr10:54076405C>A		CCDS7246.1	10q11.2	2013-05-15	2013-05-15		ENSG00000107984	ENSG00000107984			2891	protein-coding gene	gene with protein product		605189	"dickkopf (Xenopus laevis) homolog 1", "dickkopf 1 homolog (Xenopus laevis)"				Standard	NM_012242		Approved	SK, DKK-1	uc001jjr.3	O94907	OTTHUMG00000018247	ENST00000373970.3:c.639C>A	10.37:g.54076405C>A							p.V213V	NM_012242.2	NP_036374.1	O94907	DKK1_HUMAN			4	778	+			213			DKK-type Cys-2.		B2RC19	Silent	SNP	ENST00000373970.3	37	c.639C>A	CCDS7246.1																																																																																				0.473	DKK1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048100.1			4	89	1	0	0.00024832	1	0.000265746	4	89					A	54076405	C	A	54076405	2	1	428	1	0	0	0	0	0	0	0	1	4544	842	30	5		5	DKK1	10	54076405	Silent	SNP	C	TCGA-XJ-A83H-01A-11D-A34U-08		54076405	81458342	29	20670											
CDH23	64072	broad.mit.edu	37	chr10	73544687	73544687	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgctggacatcaacgacaacGaccctgtgctgctgaacctg	10	8	10	13	2	1	1	1	1	0	0	1	4	1	2	2	1	6	3	2	1	3	0	rs188078418		TCGA-XJ-A83H-01A-11D-A34U-08	TCGA-XJ-A83H-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c27050c-aef0-4f06-b6c3-fedca13d658a	eda129be-4306-443e-a904-e4d5d91c9eb7	g.chr10:73544687G>A	ENST00000224721.6	+	42	5562	c.5557G>A	c.(5557-5559)Gac>Aac	p.D1853N		NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	1848	Cadherin 18. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium ion transport (GO:0006816)|calcium-dependent cell-cell adhesion (GO:0016339)|cytosolic calcium ion homeostasis (GO:0051480)|equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						CAACGACAACGACCCTGTGCT	0.592																																						ENST00000224721.6																			0				NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						c.(5557-5559)Gac>Aac		cadherin-related 23		G	ASN/ASP	0,4376		0,0,2188	90	95	94		5542	4.3	1	10		94	1,8557	1.2+/-3.3	0,1,4278	no	missense	CDH23	NM_022124.5	23	0,1,6466	AA,AG,GG		0.0117,0.0,0.0077	possibly-damaging	1848/3355	73544687	1,12933	2188	4279	6467	SO:0001583	missense	64072				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding	g.chr10:73544687G>A	AY010111	CCDS53540.1, CCDS73146.1	10q22.1	2014-08-08	2010-01-25		ENSG00000107736	ENSG00000107736		"Cadherins / Cadherin-related"	13733	protein-coding gene	gene with protein product	"cadherin-related family member 23"	605516	"cadherin related 23", "cadherin-like 23"	DFNB12, USH1D		11090341	Standard	NM_022124		Approved	CDHR23	uc001jrx.4	Q9H251	OTTHUMG00000019347	ENST00000224721.6:c.5557G>A	10.37:g.73544687G>A	ENSP00000224721:p.Asp1853Asn						p.D1853N	NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN			42	5562	+			1848			Cadherin 18.		C4IXS9|F6U049|Q5QGS1|Q5QGS2|Q5QGS5|Q5QGS6|Q5XKN2|Q6UWW1|Q96JL3|Q9H4K9	Missense_Mutation	SNP	ENST00000224721.6	37	c.5557G>A		1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	23.9	4.470108	0.84533	0.0	1.17E-4	ENSG00000107736	ENST00000398860;ENST00000398855;ENST00000224721	.	.	.	4.35	4.35	0.52113	Cadherin (3);Cadherin conserved site (1);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.61788	0.2375	N	0.22421	0.69	0.80722	D	1	D	0.89917	1.0	D	0.73708	0.981	T	0.57802	-0.7748	9	0.18710	T	0.47	.	17.224	0.86964	0.0:0.0:1.0:0.0	.	1848	Q9H251	CAD23_HUMAN	N	1853;1848;1851	.	ENSP00000224721:D1853N	D	+	1	0	CDH23	73214693	1.000000	0.71417	0.994000	0.49952	0.689000	0.40095	9.772000	0.98984	2.131000	0.65755	0.305000	0.20034	GAC		0.592	CDH23-001	PUTATIVE	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000051227.4	NM_052836		15	44	0	0	0	1	0	15	44					A	73544687	G	A	73544687	3	1	428	1	0	0	0	0	1	0	0	0	3108	1058	37	2	6053	2	CDH23	10	73544687	Missense_Mutation	SNP	G	TCGA-XJ-A83H-01A-11D-A34U-08	19468282	73544687	61990060	30	20671											
C10orf90	118611	broad.mit.edu	37	chr10	128118366	128118366	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaccaagtacctcttagatcGcatatgcatctccttctctg	10	13	5	13	1	3	1	0	0	3	1	6	1	3	1	3	0	3	3	3	0	5	4			TCGA-XJ-A83H-01A-11D-A34U-08	TCGA-XJ-A83H-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c27050c-aef0-4f06-b6c3-fedca13d658a	eda129be-4306-443e-a904-e4d5d91c9eb7	g.chr10:128118366G>A	ENST00000284694.7	-	7	2071	c.1951C>T	c.(1951-1953)Cga>Tga	p.R651*	C10orf90_ENST00000544758.1_Nonsense_Mutation_p.R748*|C10orf90_ENST00000454341.1_Nonsense_Mutation_p.R554*|C10orf90_ENST00000480379.1_Nonsense_Mutation_p.R55*|C10orf90_ENST00000356858.3_Nonsense_Mutation_p.R604*	NM_001004298.2	NP_001004298.2	Q96M02	CJ090_HUMAN	chromosome 10 open reading frame 90	651	ALMS motif. {ECO:0000250}.				mitotic G2 DNA damage checkpoint (GO:0007095)|negative regulation of cell growth (GO:0030308)|protein stabilization (GO:0050821)|response to ionizing radiation (GO:0010212)|response to UV (GO:0009411)	actin cytoskeleton (GO:0015629)|centrosome (GO:0005813)|cytoplasm (GO:0005737)		p.R651*(2)		NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(19)|liver(1)|lung(29)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	65		all_epithelial(44;4.51e-05)|all_lung(145;0.0068)|Lung NSC(174;0.0105)|Colorectal(57;0.0848)|all_neural(114;0.0936)|Breast(234;0.203)		COAD - Colon adenocarcinoma(40;0.0442)|Colorectal(40;0.0479)		CTCTTAGATCGCATATGCATC	0.438																																						ENST00000284694.7																			2	Substitution - Nonsense(2)	p.R651*(2)	large_intestine(1)|lung(1)	NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(19)|liver(1)|lung(29)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	65						c.(1951-1953)Cga>Tga		chromosome 10 open reading frame 90							247	221	230					10																	128118366		2203	4300	6503	SO:0001587	stop_gained	118611							g.chr10:128118366G>A	BC034828	CCDS31310.1	10q26.2	2012-05-31			ENSG00000154493	ENSG00000154493			26563	protein-coding gene	gene with protein product	"fragile-site associated tumor suppressor"					20843368, 20154723	Standard	NM_001004298		Approved	FLJ32938, bA422P15.2, FATS	uc001ljq.3	Q96M02	OTTHUMG00000019245	ENST00000284694.7:c.1951C>T	10.37:g.128118366G>A	ENSP00000284694:p.Arg651*					C10orf90_ENST00000480379.1_Nonsense_Mutation_p.R55*|C10orf90_ENST00000544758.1_Nonsense_Mutation_p.R748*|C10orf90_ENST00000356858.3_Nonsense_Mutation_p.R604*|C10orf90_ENST00000454341.1_Nonsense_Mutation_p.R554*	p.R651*	NM_001004298.2	NP_001004298.2	Q96M02	CJ090_HUMAN		COAD - Colon adenocarcinoma(40;0.0442)|Colorectal(40;0.0479)	7	2071	-		all_epithelial(44;4.51e-05)|all_lung(145;0.0068)|Lung NSC(174;0.0105)|Colorectal(57;0.0848)|all_neural(114;0.0936)|Breast(234;0.203)	651					B9EIQ9|Q5JRP6|Q5T023|Q8NCV5|Q8WU75	Nonsense_Mutation	SNP	ENST00000284694.7	37	c.1951C>T	CCDS31310.1	.	.	.	.	.	.	.	.	.	.	G	38	7.077197	0.98048	.	.	ENSG00000154493	ENST00000356858;ENST00000284694;ENST00000454341;ENST00000544758;ENST00000432642	.	.	.	4.78	0.18	0.15068	.	0.000000	0.38548	N	0.001652	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-13.4571	13.2486	0.60039	0.0:0.0:0.3798:0.6202	.	.	.	.	X	604;651;554;748;651	.	ENSP00000284694:R651X	R	-	1	2	C10orf90	128108356	0.994000	0.37717	0.997000	0.53966	0.988000	0.76386	0.130000	0.15850	0.124000	0.18369	0.655000	0.94253	CGA		0.438	C10orf90-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001004298		5	81	0	0	0	1	0	5	81					A	128118366	G	A	128118366	4	1	428	1	0	0	0	0	0	1	0	0	1623	1095	38	1	160	1	C10orf90	10	128118366	Nonsense_Mutation	SNP	G	TCGA-XJ-A83H-01A-11D-A34U-08	54573679	128118366	7416381	31	20672											
OR5T1	390155	broad.mit.edu	37	chr11	56043659	56043659	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	atttagcctgtccttctgtgGatccaatgaaattaggcatg	10	14	9	8	0	1	1	0	1	1	0	3	2	3	2	3	2	1	1	3	2	4	4			TCGA-XJ-A83H-01A-11D-A34U-08	TCGA-XJ-A83H-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c27050c-aef0-4f06-b6c3-fedca13d658a	eda129be-4306-443e-a904-e4d5d91c9eb7	g.chr11:56043659G>A	ENST00000313033.2	+	1	631	c.545G>A	c.(544-546)gGa>gAa	p.G182E		NM_001004745.1	NP_001004745.1	Q8NG75	OR5T1_HUMAN	olfactory receptor, family 5, subfamily T, member 1	182						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(27)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	43	Esophageal squamous(21;0.00448)					TCCTTCTGTGGATCCAATGAA	0.413																																						ENST00000313033.2																			0				NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(27)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	43						c.(544-546)gGa>gAa		olfactory receptor, family 5, subfamily T, member 1							256	234	241					11																	56043659		2201	4296	6497	SO:0001583	missense	390155				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56043659G>A	AB065962	CCDS31525.1	11q11	2012-08-09		2004-03-10	ENSG00000181698	ENSG00000181698		"GPCR / Class A : Olfactory receptors"	14821	protein-coding gene	gene with protein product				OR5T1P			Standard	NM_001004745		Approved		uc001nio.1	Q8NG75	OTTHUMG00000166853	ENST00000313033.2:c.545G>A	11.37:g.56043659G>A	ENSP00000323612:p.Gly182Glu						p.G182E	NM_001004745.1	NP_001004745.1	Q8NG75	OR5T1_HUMAN			1	631	+	Esophageal squamous(21;0.00448)		182					B2RNM9	Missense_Mutation	SNP	ENST00000313033.2	37	c.545G>A	CCDS31525.1	.	.	.	.	.	.	.	.	.	.	G	17.88	3.496951	0.64186	.	.	ENSG00000181698	ENST00000313033	T	0.38887	1.11	3.44	-6.88	0.01665	GPCR, rhodopsin-like superfamily (1);	0.860162	0.09802	N	0.753966	T	0.49729	0.1574	M	0.70108	2.13	0.09310	N	1	B	0.30146	0.27	B	0.43155	0.41	T	0.61048	-0.7141	10	0.54805	T	0.06	.	16.1798	0.81890	0.0929:0.1383:0.7688:0.0	.	182	Q8NG75	OR5T1_HUMAN	E	182	ENSP00000323612:G182E	ENSP00000323612:G182E	G	+	2	0	OR5T1	55800235	0.000000	0.05858	0.211000	0.23655	0.605000	0.37080	0.090000	0.15025	-0.914000	0.03827	0.465000	0.42564	GGA		0.413	OR5T1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391600.1	NM_001004745		38	220	0	0	0	1	0	38	220					A	56043659	G	A	56043659	3	1	428	1	0	0	0	0	1	0	0	0	11181	1174	41	3	547	3	OR5T1	11	56043659	Missense_Mutation	SNP	G	TCGA-XJ-A83H-01A-11D-A34U-08		56043659	78962857	32	20673											
UBE4A	9354	broad.mit.edu	37	chr11	118255419	118255419	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcctatcctaagatacatgtGggggacagatacctatcggg	11	10	11	9	1	0	2	0	0	0	2	3	3	2	3	3	3	2	0	3	3	5	5	rs201356695		TCGA-XJ-A83H-01A-11D-A34U-08	TCGA-XJ-A83H-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c27050c-aef0-4f06-b6c3-fedca13d658a	eda129be-4306-443e-a904-e4d5d91c9eb7	g.chr11:118255419G>T	ENST00000431736.2	+	14	2360	c.2288G>T	c.(2287-2289)tGg>tTg	p.W763L	UBE4A_ENST00000545354.1_Missense_Mutation_p.W228L|UBE4A_ENST00000252108.3_Missense_Mutation_p.W756L					ubiquitination factor E4A											autonomic_ganglia(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(7)|liver(2)|lung(14)|ovary(3)|prostate(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	56	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)		AGATACATGTGGGGGACAGAT	0.408																																						ENST00000252108.3																			0				autonomic_ganglia(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(7)|liver(2)|lung(14)|ovary(3)|prostate(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	56						c.(2266-2268)tGg>tTg		ubiquitination factor E4A							81	76	78					11																	118255419		2200	4296	6496	SO:0001583	missense	9354				ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding	g.chr11:118255419G>T	D50916	CCDS8396.1, CCDS55790.1	11q23.3	2013-01-28	2011-05-19					"U-box domain containing"	12499	protein-coding gene	gene with protein product		603753	"ubiquitination factor E4A (homologous to yeast UFD2)", "ubiquitination factor E4A (UFD2 homolog, yeast)"			10089879	Standard	NM_004788		Approved	UBOX2, UFD2, KIAA0126, E4	uc001psv.3	Q14139	OTTHUMG00000168100	ENST00000431736.2:c.2288G>T	11.37:g.118255419G>T	ENSP00000387362:p.Trp763Leu					UBE4A_ENST00000431736.2_Missense_Mutation_p.W763L|UBE4A_ENST00000545354.1_Missense_Mutation_p.W228L	p.W756L	NM_001204077.1|NM_004788.3	NP_001191006.1|NP_004779.2	Q14139	UBE4A_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)	14	2398	+	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)	756						Missense_Mutation	SNP	ENST00000431736.2	37	c.2267G>T	CCDS8396.1	.	.	.	.	.	.	.	.	.	.	G	34	5.332762	0.95733	.	.	ENSG00000110344	ENST00000252108;ENST00000431736;ENST00000545354	T;T;T	0.46819	0.86;0.86;0.86	5.97	5.97	0.96955	Ubiquitin conjugation factor E4, core (1);	0.000000	0.85682	D	0.000000	T	0.72170	0.3427	M	0.80616	2.505	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.75020	0.985;0.964	T	0.70857	-0.4758	10	0.46703	T	0.11	-5.8021	20.4387	0.99107	0.0:0.0:1.0:0.0	.	756;763	Q14139;Q14139-2	UBE4A_HUMAN;.	L	756;763;228	ENSP00000252108:W756L;ENSP00000387362:W763L;ENSP00000438918:W228L	ENSP00000252108:W756L	W	+	2	0	UBE4A	117760629	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.869000	0.99810	2.836000	0.97738	0.655000	0.94253	TGG		0.408	UBE4A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000398143.1	NM_004788		23	28	1	0	4.4004e-07	1	5.06461e-07	23	28					T	118255419	G	T	118255419	3	4	428	1	0	0	0	0	1	0	0	0	16879	1357	47	5	2338	5	UBE4A	11	118255419	Missense_Mutation	SNP	G	TCGA-XJ-A83H-01A-11D-A34U-08	62211760	118255419	16751097	33	20674											
ZNF202	7753	broad.mit.edu	37	chr11	123597404	123597404	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctctcctgtgtgagtcctCaggtgtctaacaaggtggga	7	13	12	9	0	3	1	1	1	2	0	6	2	5	2	2	3	1	0	2	3	2	2			TCGA-XJ-A83H-01A-11D-A34U-08	TCGA-XJ-A83H-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c27050c-aef0-4f06-b6c3-fedca13d658a	eda129be-4306-443e-a904-e4d5d91c9eb7	g.chr11:123597404C>A	ENST00000529691.1	-	7	1467	c.1248G>T	c.(1246-1248)ctG>ctT	p.L416L	ZNF202_ENST00000530393.1_Silent_p.L416L|ZNF202_ENST00000336139.4_Silent_p.L416L			O95125	ZN202_HUMAN	zinc finger protein 202	416					lipid metabolic process (GO:0006629)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(4)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	30		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.03)		TGTGAGTCCTCAGGTGTCTAA	0.473																																						ENST00000336139.4																			0				endometrium(4)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	30						c.(1246-1248)ctG>ctT		zinc finger protein 202							123	119	121					11																	123597404		2202	4299	6501	SO:0001819	synonymous_variant	7753				lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter|viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr11:123597404C>A	AF027219	CCDS8443.1	11q23.3	2013-01-09				ENSG00000166261		"Zinc fingers, C2H2-type", "-", "-", "-"	12994	protein-coding gene	gene with protein product		603430				9790754	Standard	XM_005271659		Approved	ZKSCAN10, ZSCAN42	uc001pzd.1	O95125		ENST00000529691.1:c.1248G>T	11.37:g.123597404C>A						ZNF202_ENST00000529691.1_Silent_p.L416L|ZNF202_ENST00000530393.1_Silent_p.L416L	p.L416L			O95125	ZN202_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.03)	8	1610	-		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	416					B0LPH9|Q4JG21|Q9H1B9|Q9NSM4	Silent	SNP	ENST00000529691.1	37	c.1248G>T	CCDS8443.1																																																																																				0.473	ZNF202-003	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000387419.1	NM_003455		12	104	1	0	0.00010058	1	0.00010956	12	104					A	123597404	C	A	123597404	2	1	428	1	0	0	0	0	0	0	0	1	17760	813	29	5		5	ZNF202	11	123597404	Silent	SNP	C	TCGA-XJ-A83H-01A-11D-A34U-08	5341985	123597404	11409112	34	20675											
NCKAP5L	57701	broad.mit.edu	37	chr12	50187215	50187215	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcctccctggctcgctgctcGgctgtgtgggatacaggaga	5	9	15	12	2	0	1	0	0	0	1	3	3	1	2	2	4	2	4	2	4	1	1	rs80286572	byFrequency	TCGA-XJ-A83H-01A-11D-A34U-08	TCGA-XJ-A83H-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c27050c-aef0-4f06-b6c3-fedca13d658a	eda129be-4306-443e-a904-e4d5d91c9eb7	g.chr12:50187215G>A	ENST00000335999.6	-	10	3461	c.3260C>T	c.(3259-3261)cCg>cTg	p.P1087L		NM_001037806.3	NP_001032895.2	Q9HCH0	NCK5L_HUMAN	NCK-associated protein 5-like	1083	Pro-rich.									central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(8)|prostate(2)	18						CTCGCTGCTCGGCTGTGTGGG	0.622													G|||	14	0.00279553	0.0098	0	5008	,	,		15411	0.001		0	False		,,,				2504	0					ENST00000335999.6																			0				central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(8)|prostate(2)	18						c.e10-1		NCK-associated protein 5-like		G	LEU/PRO	29,4261		0,29,2116	43	53	50		3260	0.2	0.2	12	dbSNP_131	50	1,8459		0,1,4229	yes	missense-near-splice	NCKAP5L	NM_001037806.3	98	0,30,6345	AA,AG,GG		0.0118,0.676,0.2353	benign	1087/1335	50187215	30,12720	2145	4230	6375	SO:0001630	splice_region_variant	57701							g.chr12:50187215G>A	AB046822	CCDS41781.2	12q13.12	2009-08-14	2009-08-14	2009-08-14	ENSG00000167566	ENSG00000167566			29321	protein-coding gene	gene with protein product		615104	"KIAA1602"	KIAA1602			Standard	NM_001037806		Approved		uc009zlk.2	Q9HCH0	OTTHUMG00000156969	ENST00000335999.6:c.3259-1C>T	12.37:g.50187215G>A							p.P1087_splice	NM_001037806.3	NP_001032895.2	Q9HCH0	NCK5L_HUMAN			10	3461	-			1083			Pro-rich.		Q2TB26|Q71RH1|Q8N4W1|Q96HX2	Splice_Site	SNP	ENST00000335999.6	37	c.3258_splice	CCDS41781.2	3	0.0013736263736263737	3	0.006097560975609756	0	0.0	0	0.0	0	0.0	G	10.25	1.297966	0.23650	0.00676	1.18E-4	ENSG00000167566	ENST00000335999;ENST00000354423	T	0.39592	1.07	4.29	0.153	0.14897	.	0.374275	0.19868	N	0.104266	T	0.18002	0.0432	L	0.36672	1.1	0.23533	N	0.997471	B;B;B	0.17667	0.003;0.003;0.023	B;B;B	0.11329	0.001;0.002;0.006	T	0.08932	-1.0698	10	0.25106	T	0.35	-1.3467	3.3394	0.07113	0.4051:0.0:0.414:0.1809	.	1061;1083;1083	E2QRB5;Q9HCH0;Q9HCH0-2	.;NCK5L_HUMAN;.	L	1087;1061	ENSP00000337998:P1087L	ENSP00000337998:P1087L	P	-	2	0	NCKAP5L	48473482	0.005000	0.15991	0.215000	0.23724	0.482000	0.33219	0.274000	0.18680	0.206000	0.20587	0.655000	0.94253	CCG		0.622	NCKAP5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346884.2	XM_035497	Missense_Mutation	3	54	0	0	0	1	0	3	54					A	50187215	G	A	50187215	5	1	428	1	0	0	0	0	0	0	1	0	10224	1130	39	2	760	2	NCKAP5L	12	50187215	Splice_Site	SNP	G	TCGA-XJ-A83H-01A-11D-A34U-08		50187215	83664680	35	20676											
TESC	54997	broad.mit.edu	37	chr12	117486955	117486955	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccaggccactgggtcccttgCgcaggttcctacgggagcaa	7	7	13	14	2	0	0	0	0	0	0	2	1	2	1	4	4	3	3	4	4	2	3			TCGA-XJ-A83H-01A-11D-A34U-08	TCGA-XJ-A83H-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c27050c-aef0-4f06-b6c3-fedca13d658a	eda129be-4306-443e-a904-e4d5d91c9eb7	g.chr12:117486955C>T	ENST00000335209.7	-	4	404	c.218G>A	c.(217-219)cGc>cAc	p.R73H	TESC_ENST00000535198.1_5'UTR|TESC_ENST00000541210.1_Missense_Mutation_p.R46H|TESC_ENST00000392545.4_Missense_Mutation_p.R126H			Q96BS2	CHP3_HUMAN	tescalcin	73					cell differentiation (GO:0030154)|cellular response to retinoic acid (GO:0071300)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell proliferation (GO:0008285)|positive regulation of gene expression (GO:0010628)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of megakaryocyte differentiation (GO:0045654)|positive regulation of sodium:proton antiporter activity (GO:0032417)|positive regulation of transcription, DNA-templated (GO:0045893)|protein maturation (GO:0051604)|protein stabilization (GO:0050821)|protein targeting to plasma membrane (GO:0072661)|regulation of cell adhesion mediated by integrin (GO:0033628)	cytoplasm (GO:0005737)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	calcium ion binding (GO:0005509)|magnesium ion binding (GO:0000287)|phosphatase inhibitor activity (GO:0019212)|protein homodimerization activity (GO:0042803)|protein kinase inhibitor activity (GO:0004860)			endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	6	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0297)		GGGTCCCTTGCGCAGGTTCCT	0.537																																						ENST00000335209.7																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	6						c.(217-219)cGc>cAc		tescalcin							118	110	112					12																	117486955		2203	4300	6503	SO:0001583	missense	54997				negative regulation of cell proliferation|positive regulation of megakaryocyte differentiation|positive regulation of transcription, DNA-dependent|regulation of cell adhesion mediated by integrin	cytoplasm|lamellipodium|nucleus|plasma membrane|ruffle	calcium ion binding|magnesium ion binding|phosphatase inhibitor activity|protein binding	g.chr12:117486955C>T	AF443207	CCDS9183.2, CCDS9183.3, CCDS53835.1	12q24.22	2013-01-10			ENSG00000088992	ENSG00000088992		"EF-hand domain containing"	26065	protein-coding gene	gene with protein product	"calcineurin-like EF hand protein 3"	611585				11145610, 11696366, 12809501, 14661968	Standard	NM_017899		Approved	TSC, FLJ20607, CHP3	uc001twh.3	Q96BS2	OTTHUMG00000144168	ENST00000335209.7:c.218G>A	12.37:g.117486955C>T	ENSP00000334785:p.Arg73His					TESC_ENST00000392545.4_Missense_Mutation_p.R126H|TESC_ENST00000535198.1_5'UTR|TESC_ENST00000541210.1_Missense_Mutation_p.R46H	p.R73H			Q96BS2	TESC_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.0297)	4	404	-	all_neural(191;0.117)|Medulloblastoma(191;0.163)		73					F5H1Y5|Q9NWT9	Missense_Mutation	SNP	ENST00000335209.7	37	c.218G>A	CCDS9183.3	.	.	.	.	.	.	.	.	.	.	C	13.98	2.397995	0.42512	.	.	ENSG00000088992	ENST00000335209;ENST00000392545;ENST00000541210	T;T;T	0.54866	0.55;0.55;1.22	5.92	5.92	0.95590	EF-hand-like domain (1);	0.178711	0.50627	D	0.000107	T	0.39911	0.1096	L	0.29908	0.895	0.80722	D	1	B	0.12630	0.006	B	0.08055	0.003	T	0.17289	-1.0374	10	0.21540	T	0.41	-21.8896	13.1034	0.59233	0.0:0.9233:0.0:0.0767	.	73	Q96BS2	TESC_HUMAN	H	73;126;46	ENSP00000334785:R73H;ENSP00000376328:R126H;ENSP00000445689:R46H	ENSP00000334785:R73H	R	-	2	0	TESC	115971338	0.998000	0.40836	1.000000	0.80357	0.769000	0.43574	2.718000	0.47236	2.811000	0.96726	0.555000	0.69702	CGC		0.537	TESC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000291363.2	NM_017899		4	50	0	0	0	1	0	4	50					T	117486955	C	T	117486955	3	4	428	1	0	0	0	0	1	0	0	0	15763	768	27	1	446	1	TESC	12	117486955	Missense_Mutation	SNP	C	TCGA-XJ-A83H-01A-11D-A34U-08	67299740	117486955	16364940	36	20677											
RILPL2	196383	broad.mit.edu	37	chr12	123915096	123915096	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcctgcaccaccaggagctgCgacttgagtttgttgcgttc	6	12	11	12	2	0	1	0	1	0	0	2	3	1	2	3	1	4	5	3	1	0	4			TCGA-XJ-A83H-01A-11D-A34U-08	TCGA-XJ-A83H-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c27050c-aef0-4f06-b6c3-fedca13d658a	eda129be-4306-443e-a904-e4d5d91c9eb7	g.chr12:123915096C>T	ENST00000280571.8	-	2	746	c.450G>A	c.(448-450)tcG>tcA	p.S150S		NM_145058.1	NP_659495.1	Q969X0	RIPL2_HUMAN	Rab interacting lysosomal protein-like 2	150	RILP-like.				epithelial cell morphogenesis (GO:0003382)|intracellular protein transport (GO:0006886)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|primary cilium (GO:0072372)	identical protein binding (GO:0042802)			endometrium(1)|large_intestine(2)|lung(2)|skin(1)	6	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000546)|Epithelial(86;0.00179)|all cancers(50;0.0168)		CCAGGAGCTGCGACTTGAGTT	0.582																																						ENST00000280571.8																			0				endometrium(1)|large_intestine(2)|lung(2)|skin(1)	6						c.(448-450)tcG>tcA		Rab interacting lysosomal protein-like 2							135	128	131					12																	123915096		2203	4300	6503	SO:0001819	synonymous_variant	196383					cytosol|plasma membrane	identical protein binding	g.chr12:123915096C>T	AB085763	CCDS9248.1	12q24.31	2007-11-27				ENSG00000150977			28787	protein-coding gene	gene with protein product		614093				14668488	Standard	NM_145058		Approved	MGC7036, FLJ30380, FLJ32372	uc001uey.1	Q969X0		ENST00000280571.8:c.450G>A	12.37:g.123915096C>T							p.S150S	NM_145058.1	NP_659495.1	Q969X0	RIPL2_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000546)|Epithelial(86;0.00179)|all cancers(50;0.0168)	2	746	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		150			RILP-like.			Silent	SNP	ENST00000280571.8	37	c.450G>A	CCDS9248.1																																																																																				0.582	RILPL2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_145058		4	99	0	0	0	1	0	4	99					T	123915096	C	T	123915096	2	4	428	1	0	0	0	0	0	0	0	1	13362	755	27	1		1	RILPL2	12	123915096	Silent	SNP	C	TCGA-XJ-A83H-01A-11D-A34U-08	6428141	123915096	9936799	37	20678											
ZNF664	144348	broad.mit.edu	37	chr12	124496834	124496834	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcatatatcagaacttcataTtcattggagagaccatacag	15	12	6	8	0	4	2	4	0	0	2	4	4	4	3	1	1	2	0	1	1	5	7			TCGA-XJ-A83H-01A-11D-A34U-08	TCGA-XJ-A83H-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c27050c-aef0-4f06-b6c3-fedca13d658a	eda129be-4306-443e-a904-e4d5d91c9eb7	g.chr12:124496834T>G	ENST00000539644.1	+	6	1973	c.143T>G	c.(142-144)aTt>aGt	p.I48S	FAM101A_ENST00000545615.1_Intron|ZNF664_ENST00000337815.4_Missense_Mutation_p.I48S|ZNF664_ENST00000392404.3_Missense_Mutation_p.I48S|ZNF664_ENST00000538932.2_Missense_Mutation_p.I48S			Q8N3J9	ZN664_HUMAN	zinc finger protein 664	48					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|large_intestine(5)|lung(6)|skin(1)	13	all_neural(191;0.101)|Medulloblastoma(191;0.163)			Epithelial(86;0.000239)|OV - Ovarian serous cystadenocarcinoma(86;0.000247)|all cancers(50;0.00155)|BRCA - Breast invasive adenocarcinoma(302;0.249)		GAACTTCATATTCATTGGAGA	0.353																																						ENST00000539644.1																			0				breast(1)|large_intestine(5)|lung(6)|skin(1)	13						c.(142-144)aTt>aGt		zinc finger protein 664							90	100	96					12																	124496834		2203	4300	6503	SO:0001583	missense	144348				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr12:124496834T>G		CCDS9257.1	12q24.31	2013-05-10			ENSG00000179195	ENSG00000179195		"Zinc fingers, C2H2-type"	25406	protein-coding gene	gene with protein product			"zinc finger protein 176"	ZNF176		12477932	Standard	NM_001204298		Approved	ZFOC1, DKFZp761B128	uc001uga.3	Q8N3J9	OTTHUMG00000168596	ENST00000539644.1:c.143T>G	12.37:g.124496834T>G	ENSP00000441405:p.Ile48Ser					ZNF664_ENST00000392404.3_Missense_Mutation_p.I48S|RP11-522N14.1_ENST00000540762.1_RNA|ZNF664_ENST00000538932.2_Missense_Mutation_p.I48S|ZNF664_ENST00000337815.4_Missense_Mutation_p.I48S	p.I48S			Q8N3J9	ZN664_HUMAN		Epithelial(86;0.000239)|OV - Ovarian serous cystadenocarcinoma(86;0.000247)|all cancers(50;0.00155)|BRCA - Breast invasive adenocarcinoma(302;0.249)	6	1973	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		48					B3KP97|Q15914|Q3ZCQ7	Missense_Mutation	SNP	ENST00000539644.1	37	c.143T>G	CCDS9257.1	.	.	.	.	.	.	.	.	.	.	T	3.719	-0.057861	0.07317	.	.	ENSG00000179195	ENST00000539644;ENST00000392404;ENST00000538932;ENST00000337815	T;T;T;T	0.15256	2.44;2.44;2.44;2.44	4.4	4.4	0.53042	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.40908	D	0.000987	T	0.07818	0.0196	N	0.04148	-0.265	0.09310	N	1	B	0.31730	0.337	B	0.30943	0.122	T	0.33111	-0.9881	9	.	.	.	-30.4371	12.2516	0.54601	0.0:0.0:0.0:1.0	.	48	Q8N3J9	ZN664_HUMAN	S	48	ENSP00000441405:I48S;ENSP00000376205:I48S;ENSP00000440645:I48S;ENSP00000337320:I48S	.	I	+	2	0	ZNF664	123062787	0.000000	0.05858	0.697000	0.30258	0.916000	0.54674	-0.423000	0.07034	2.202000	0.70862	0.533000	0.62120	ATT		0.353	ZNF664-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400365.1	NM_152437		13	86	0	0	0	1	0	13	86					G	124496834	T	G	124496834	3	3	428	1	0	0	0	0	1	0	0	0	18069	1493	52	5	145	5	ZNF664	12	124496834	Missense_Mutation	SNP	T	TCGA-XJ-A83H-01A-11D-A34U-08	581738	124496834	9355061	38	20679											
CEBPE	1053	broad.mit.edu	37	chr14	23586839	23586839	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgccatgtactccagcacctTctgctgcgtctccagaatgc	7	11	8	15	1	2	1	0	0	2	1	4	1	3	1	4	0	6	3	4	0	2	2			TCGA-XJ-A83H-01A-11D-A34U-08	TCGA-XJ-A83H-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c27050c-aef0-4f06-b6c3-fedca13d658a	eda129be-4306-443e-a904-e4d5d91c9eb7	g.chr14:23586839T>C	ENST00000206513.5	-	2	1227	c.703A>G	c.(703-705)Aag>Gag	p.K235E		NM_001805.3	NP_001796.2	Q15744	CEBPE_HUMAN	CCAAT/enhancer binding protein (C/EBP), epsilon	235	Leucine-zipper. {ECO:0000255|PROSITE- ProRule:PRU00978}.|bZIP. {ECO:0000255|PROSITE- ProRule:PRU00978}.				cellular response to lipopolysaccharide (GO:0071222)|cytokine biosynthetic process (GO:0042089)|defense response (GO:0006952)|defense response to bacterium (GO:0042742)|macrophage differentiation (GO:0030225)|phagocytosis (GO:0006909)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(1)	9	all_cancers(95;4.6e-05)			GBM - Glioblastoma multiforme(265;0.0064)		TCCAGCACCTTCTGCTGCGTC	0.622																																					NSCLC(63;1230 1818 14565 22565)	ENST00000206513.5																			0				large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(1)	9						c.(703-705)Aag>Gag		CCAAT/enhancer binding protein (C/EBP), epsilon							81	68	72					14																	23586839		2203	4300	6503	SO:0001583	missense	1053					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr14:23586839T>C		CCDS9589.1	14q11.2	2014-09-17			ENSG00000092067	ENSG00000092067		"basic leucine zipper proteins"	1836	protein-coding gene	gene with protein product		600749				8661101	Standard	NM_001805		Approved	CRP1	uc001wiv.2	Q15744	OTTHUMG00000028719	ENST00000206513.5:c.703A>G	14.37:g.23586839T>C	ENSP00000206513:p.Lys235Glu						p.K235E	NM_001805.3	NP_001796.2	Q15744	CEBPE_HUMAN		GBM - Glioblastoma multiforme(265;0.0064)	2	1227	-	all_cancers(95;4.6e-05)		235					Q15745|Q8IYI2|Q99803	Missense_Mutation	SNP	ENST00000206513.5	37	c.703A>G	CCDS9589.1	.	.	.	.	.	.	.	.	.	.	T	21.2	4.116690	0.77323	.	.	ENSG00000092067	ENST00000206513	T	0.47869	0.83	5.34	5.34	0.76211	Basic-leucine zipper (bZIP) transcription factor (2);Basic leucine zipper (1);	0.000000	0.85682	D	0.000000	T	0.66247	0.2770	M	0.86028	2.79	0.34724	D	0.729023	D	0.55605	0.972	P	0.59595	0.86	T	0.79429	-0.1807	10	0.87932	D	0	-31.7041	10.0331	0.42111	0.0:0.0:0.2882:0.7118	.	235	Q15744	CEBPE_HUMAN	E	235	ENSP00000206513:K235E	ENSP00000206513:K235E	K	-	1	0	CEBPE	22656679	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.618000	0.46393	2.025000	0.59659	0.533000	0.62120	AAG		0.622	CEBPE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071716.2	NM_001805		7	53	0	0	0	1	0	7	53					C	23586839	T	C	23586839	3	2	428	1	0	0	0	0	1	0	0	0	3202	1792	62	4	146	4	CEBPE	14	23586839	Missense_Mutation	SNP	T	TCGA-XJ-A83H-01A-11D-A34U-08		23586839	83762701	39	20680											
NID2	22795	broad.mit.edu	37	chr14	52478320	52478320	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcccagttccagaccagcacGgctgattgtccgtccagcaa	9	8	9	15	2	0	2	0	1	0	1	4	2	4	2	5	1	2	4	5	1	1	2	rs117206856	byFrequency	TCGA-XJ-A83H-01A-11D-A34U-08	TCGA-XJ-A83H-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c27050c-aef0-4f06-b6c3-fedca13d658a	eda129be-4306-443e-a904-e4d5d91c9eb7	g.chr14:52478320G>A	ENST00000216286.5	-	17	3501	c.3502C>T	c.(3502-3504)Cgt>Tgt	p.R1168C	NID2_ENST00000541773.1_Missense_Mutation_p.R1067C	NM_007361.3	NP_031387.3	Q14112	NID2_HUMAN	nidogen 2 (osteonidogen)	1168					basement membrane organization (GO:0071711)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|cell surface (GO:0009986)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)			NS(1)|breast(5)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(40)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	87	Breast(41;0.0639)|all_epithelial(31;0.123)					AGACCAGCACGGCTGATTGTC	0.493													g|||	2	0.000399361	0	0	5008	,	,		20085	0		0.002	False		,,,				2504	0					ENST00000216286.5																			0				NS(1)|breast(5)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(40)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	87						c.(3502-3504)Cgt>Tgt		nidogen 2 (osteonidogen)		G	CYS/ARG	0,4406		0,0,2203	153	126	135		3502	5	1	14	dbSNP_132	135	1,8599	1.2+/-3.3	0,1,4299	yes	missense	NID2	NM_007361.3	180	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	1168/1376	52478320	1,13005	2203	4300	6503	SO:0001583	missense	22795					basement membrane	calcium ion binding|collagen binding	g.chr14:52478320G>A	AB009799	CCDS9706.1	14q22.1	2008-05-14			ENSG00000087303	ENSG00000087303			13389	protein-coding gene	gene with protein product		605399				9733643	Standard	NM_007361		Approved		uc001wzo.3	Q14112	OTTHUMG00000140298	ENST00000216286.5:c.3502C>T	14.37:g.52478320G>A	ENSP00000216286:p.Arg1168Cys					NID2_ENST00000541773.1_Missense_Mutation_p.R1067C	p.R1168C	NM_007361.3	NP_031387.3	Q14112	NID2_HUMAN			17	3501	-	Breast(41;0.0639)|all_epithelial(31;0.123)		1168					A8K6I7|B4DU19|O43710	Missense_Mutation	SNP	ENST00000216286.5	37	c.3502C>T	CCDS9706.1	2|2	9.157509157509158E-4|9.157509157509158E-4	0|0	0.0|0.0	0|0	0.0|0.0	0|0	0.0|0.0	2|2	0.002638522427440633|0.002638522427440633	G|G	15.75|15.75	2.926859|2.926859	0.52759|0.52759	0.0|0.0	1.16E-4|1.16E-4	ENSG00000087303|ENSG00000087303	ENST00000556572|ENST00000216286;ENST00000316204;ENST00000541773	.|T;T	.|0.34275	.|1.37;1.37	5.92|5.92	5.0|5.0	0.66597|0.66597	.|Six-bladed beta-propeller, TolB-like (1);	.|0.093016	.|0.64402	.|N	.|0.000001	T|T	0.70141|0.70141	0.3190|0.3190	H|H	0.95043|0.95043	3.615|3.615	0.46725|0.46725	D|D	0.999177|0.999177	.|D;D;D	.|0.89917	.|1.0;1.0;1.0	.|D;D;D	.|0.91635	.|0.997;0.999;0.972	T|T	0.78181|0.78181	-0.2304|-0.2304	5|10	.|0.66056	.|D	.|0.02	.|.	13.9943|13.9943	0.64386|0.64386	0.0:0.0:0.6612:0.3387|0.0:0.0:0.6612:0.3387	.|.	.|762;1067;1168	.|E7EPP3;Q14112-2;Q14112	.|.;.;NID2_HUMAN	L|C	436|1168;762;1067	.|ENSP00000216286:R1168C;ENSP00000443730:R1067C	.|ENSP00000216286:R1168C	P|R	-|-	2|1	0|0	NID2|NID2	51548070|51548070	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.191000|0.191000	0.23601|0.23601	2.311000|2.311000	0.43717|0.43717	2.809000|2.809000	0.96659|0.96659	0.655000|0.655000	0.94253|0.94253	CCG|CGT		0.493	NID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276888.1			33	120	0	0	0	1	0	33	120					A	52478320	G	A	52478320	3	1	428	1	0	0	0	0	1	0	0	0	10415	1116	39	2	649	2	NID2	14	52478320	Missense_Mutation	SNP	G	TCGA-XJ-A83H-01A-11D-A34U-08	28891481	52478320	54871220	40	20681											
IFT140	9742	broad.mit.edu	37	chr16	1570707	1570707	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	cagcagctcccgccgcgactCctcaggcaggtccgaggagt	7	5	13	16	4	1	0	1	0	0	0	4	3	4	1	4	3	2	3	4	3	0	0			TCGA-XJ-A83H-01A-11D-A34U-08	TCGA-XJ-A83H-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c27050c-aef0-4f06-b6c3-fedca13d658a	eda129be-4306-443e-a904-e4d5d91c9eb7	g.chr16:1570707C>G	ENST00000426508.2	-	27	3919	c.3556G>C	c.(3556-3558)Gag>Cag	p.E1186Q	IFT140_ENST00000361339.5_Missense_Mutation_p.E380Q	NM_014714.3	NP_055529.2	Q96RY7	IF140_HUMAN	intraflagellar transport 140	1186					cilium assembly (GO:0042384)|intraciliary retrograde transport (GO:0035721)|protein localization to cilium (GO:0061512)|regulation of cilium assembly (GO:1902017)|renal system development (GO:0072001)|retina development in camera-type eye (GO:0060041)|skeletal system morphogenesis (GO:0048705)	axoneme (GO:0005930)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|intraciliary transport particle A (GO:0030991)|photoreceptor connecting cilium (GO:0032391)				breast(1)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(12)|lung(10)|ovary(5)|pancreas(1)|prostate(4)|skin(4)|stomach(2)|urinary_tract(1)	53		Hepatocellular(780;0.219)				CGCCGCGACTCCTCAGGCAGG	0.627																																						ENST00000426508.2																			0				breast(1)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(12)|lung(10)|ovary(5)|pancreas(1)|prostate(4)|skin(4)|stomach(2)|urinary_tract(1)	53						c.(3556-3558)Gag>Cag		intraflagellar transport 140 homolog (Chlamydomonas)							30	28	28					16																	1570707		2199	4300	6499	SO:0001583	missense	9742							g.chr16:1570707C>G	AB011162	CCDS10439.1	16p13.3	2014-07-03	2014-07-03	2005-11-02	ENSG00000187535	ENSG00000187535		"Intraflagellar transport homologs", "WD repeat domain containing"	29077	protein-coding gene	gene with protein product		614620	"WD and tetratricopeptide repeats 2", "intraflagellar transport 140 homolog (Chlamydomonas)"	WDTC2		9628581	Standard	NM_014714		Approved	gs114, KIAA0590	uc002cmb.3	Q96RY7	OTTHUMG00000128585	ENST00000426508.2:c.3556G>C	16.37:g.1570707C>G	ENSP00000406012:p.Glu1186Gln					IFT140_ENST00000361339.5_Missense_Mutation_p.E380Q	p.E1186Q	NM_014714.3	NP_055529.2	Q96RY7	IF140_HUMAN			27	3919	-		Hepatocellular(780;0.219)	1186					A2A2A8|D3DU75|O60332|Q9UG52	Missense_Mutation	SNP	ENST00000426508.2	37	c.3556G>C	CCDS10439.1	.	.	.	.	.	.	.	.	.	.	C	34	5.329283	0.95733	.	.	ENSG00000187535	ENST00000397417;ENST00000361339;ENST00000426508	T;T	0.60672	1.39;0.17	5.78	5.78	0.91487	.	0.261213	0.37906	N	0.001883	T	0.79143	0.4396	M	0.84846	2.72	0.58432	D	0.999999	D;D	0.71674	0.992;0.998	P;D	0.67231	0.818;0.95	T	0.78285	-0.2263	10	0.44086	T	0.13	.	20.3668	0.98882	0.0:1.0:0.0:0.0	.	1186;873	Q96RY7;B4DR58	IF140_HUMAN;.	Q	1186;380;1186	ENSP00000354895:E380Q;ENSP00000406012:E1186Q	ENSP00000354895:E380Q	E	-	1	0	IFT140	1510708	1.000000	0.71417	0.801000	0.32222	0.956000	0.61745	7.713000	0.84693	2.894000	0.99253	0.655000	0.94253	GAG		0.627	IFT140-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250438.2	NM_014714		7	12	0	0	0	1	0	7	12					G	1570707	C	G	1570707	3	3	428	1	0	0	0	0	1	0	0	0	7556	864	30	5	852	5	IFT140	16	1570707	Missense_Mutation	SNP	C	TCGA-XJ-A83H-01A-11D-A34U-08		1570707	88784046	41	20682											
DNAH3	55567	broad.mit.edu	37	chr16	21139017	21139017	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cagatactgacttgttgagaAgagtctggtgtgcctccagg	9	11	13	8	0	1	4	0	2	1	3	2	5	2	4	2	2	2	1	2	2	2	3			TCGA-XJ-A83H-01A-11D-A34U-08	TCGA-XJ-A83H-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c27050c-aef0-4f06-b6c3-fedca13d658a	eda129be-4306-443e-a904-e4d5d91c9eb7	g.chr16:21139017A>C	ENST00000261383.3	-	8	1198	c.1199T>G	c.(1198-1200)cTt>cGt	p.L400R	DNAH3_ENST00000415178.1_Missense_Mutation_p.L400R|CTC-508F8.1_ENST00000575612.1_RNA	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	400	Stem. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		CTTGTTGAGAAGAGTCTGGTG	0.493																																						ENST00000261383.3																			0				NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202						c.(1198-1200)cTt>cGt		dynein, axonemal, heavy chain 3							131	119	123					16																	21139017		2201	4300	6501	SO:0001583	missense	55567				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr16:21139017A>C	U83574	CCDS10594.1	16p12.2	2008-08-01	2006-09-04		ENSG00000158486	ENSG00000158486		"Axonemal dyneins"	2949	protein-coding gene	gene with protein product		603334	"dynein, axonemal, heavy polypeptide 3"			9256245, 9373155	Standard	NM_017539		Approved	Dnahc3b, DLP3, Hsadhc3, DKFZp434N074	uc010vbe.2	Q8TD57	OTTHUMG00000090677	ENST00000261383.3:c.1199T>G	16.37:g.21139017A>C	ENSP00000261383:p.Leu400Arg					CTC-508F8.1_ENST00000575612.1_RNA|DNAH3_ENST00000415178.1_Missense_Mutation_p.L400R	p.L400R	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN		GBM - Glioblastoma multiforme(48;0.207)	8	1198	-			400			Stem (By similarity).		O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Missense_Mutation	SNP	ENST00000261383.3	37	c.1199T>G	CCDS10594.1	.	.	.	.	.	.	.	.	.	.	A	13.60	2.284504	0.40394	.	.	ENSG00000158486	ENST00000261383;ENST00000415178;ENST00000396036	T;T	0.40476	1.03;1.21	5.57	4.44	0.53790	.	0.864471	0.09761	N	0.759309	T	0.62478	0.2431	M	0.69358	2.11	0.80722	D	1	D;D	0.89917	0.989;1.0	P;D	0.87578	0.799;0.998	T	0.53194	-0.8473	10	0.87932	D	0	.	9.5149	0.39100	0.8425:0.0:0.0:0.1575	.	400;371	Q8TD57;Q8TD57-2	DYH3_HUMAN;.	R	400;400;371	ENSP00000261383:L400R;ENSP00000394245:L400R	ENSP00000261383:L400R	L	-	2	0	DNAH3	21046518	1.000000	0.71417	0.307000	0.25127	0.280000	0.26924	6.338000	0.72963	0.886000	0.36113	0.460000	0.39030	CTT		0.493	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207361.1	NM_017539		4	97	0	0	0	1	0	4	97					C	21139017	A	C	21139017	3	2	428	1	0	0	0	0	1	0	0	0	4603	72	3	5	11370	5	DNAH3	16	21139017	Missense_Mutation	SNP	A	TCGA-XJ-A83H-01A-11D-A34U-08	19568310	21139017	69215736	42	20683											
EFCAB5	374786	broad.mit.edu	37	chr17	28380700	28380700	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agagagtcaactacagaacaAggacagcacaaagggtcaat	19	4	10	8	0	2	2	2	0	0	2	2	4	2	3	0	2	4	1	0	2	6	1	rs34709422		TCGA-XJ-A83H-01A-11D-A34U-08	TCGA-XJ-A83H-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c27050c-aef0-4f06-b6c3-fedca13d658a	eda129be-4306-443e-a904-e4d5d91c9eb7	g.chr17:28380700A>G	ENST00000394835.3	+	10	1920	c.1728A>G	c.(1726-1728)caA>caG	p.Q576Q	EFCAB5_ENST00000536908.2_Silent_p.Q520Q|EFCAB5_ENST00000320856.5_Silent_p.Q576Q|EFCAB5_ENST00000541045.1_Silent_p.Q233Q|EFCAB5_ENST00000378738.3_Silent_p.Q576Q|EFCAB5_ENST00000394832.2_Silent_p.Q576Q	NM_198529.3	NP_940931	A4FU69	EFCB5_HUMAN	EF-hand calcium binding domain 5	576							calcium ion binding (GO:0005509)			breast(7)|endometrium(2)|kidney(4)|large_intestine(11)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						CTACAGAACAAGGACAGCACA	0.453																																						ENST00000394835.3																			0				breast(7)|endometrium(2)|kidney(4)|large_intestine(11)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						c.(1726-1728)caA>caG		EF-hand calcium binding domain 5							179	166	171					17																	28380700		2063	4210	6273	SO:0001819	synonymous_variant	374786						calcium ion binding	g.chr17:28380700A>G	AL833911	CCDS11254.2, CCDS54103.1	17q11.2	2013-01-10			ENSG00000176927	ENSG00000176927		"EF-hand domain containing"	24801	protein-coding gene	gene with protein product							Standard	NM_198529		Approved	FLJ46247	uc002het.3	A4FU69	OTTHUMG00000132753	ENST00000394835.3:c.1728A>G	17.37:g.28380700A>G						EFCAB5_ENST00000378738.3_Silent_p.Q576Q|EFCAB5_ENST00000320856.5_Silent_p.Q576Q|EFCAB5_ENST00000541045.1_Silent_p.Q233Q|EFCAB5_ENST00000394832.2_Silent_p.Q576Q|EFCAB5_ENST00000536908.2_Silent_p.Q520Q	p.Q576Q	NM_198529.3	NP_940931.2	A4FU69	EFCB5_HUMAN			10	1920	+			576					B2RPN0|B4DS75|B4DZR5|F5GYL2|Q0VD68|Q6ZRM6|Q8NDG9	Silent	SNP	ENST00000394835.3	37	c.1728A>G	CCDS11254.2																																																																																				0.453	EFCAB5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256120.4	NM_198529		5	101	0	0	0	1	0	5	101					G	28380700	A	G	28380700	2	3	428	1	0	0	0	0	0	0	0	1	4938	69	3	4		4	EFCAB5	17	28380700	Silent	SNP	A	TCGA-XJ-A83H-01A-11D-A34U-08		28380700	52814510	43	20684											
TEX14	56155	broad.mit.edu	37	chr17	56635171	56635171	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tttcattacctggatgattcGgaccaacctagtcgcttcca	9	13	7	12	2	1	1	1	1	0	0	4	3	2	3	4	2	2	1	4	2	3	5	rs540077247		TCGA-XJ-A83H-01A-11D-A34U-08	TCGA-XJ-A83H-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c27050c-aef0-4f06-b6c3-fedca13d658a	eda129be-4306-443e-a904-e4d5d91c9eb7	g.chr17:56635171G>A	ENST00000240361.8	-	32	4531	c.4446C>T	c.(4444-4446)tcC>tcT	p.S1482S	TEX14_ENST00000349033.5_Silent_p.S1436S|TEX14_ENST00000389934.3_Silent_p.S1476S|RP11-112H10.4_ENST00000578022.1_RNA|TEX14_ENST00000584699.1_Intron|RP11-112H10.4_ENST00000580589.1_RNA			Q8IWB6	TEX14_HUMAN	testis expressed 14	1482					attachment of spindle microtubules to kinetochore (GO:0008608)|intercellular bridge organization (GO:0043063)|male meiosis (GO:0007140)|mitotic sister chromatid separation (GO:0051306)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of cytokinesis (GO:0032466)|negative regulation of protein binding (GO:0032091)	cell (GO:0005623)|cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|kinetochore (GO:0000776)|midbody (GO:0030496)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)			breast(6)|endometrium(5)|kidney(3)|large_intestine(22)|liver(1)|lung(24)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	81	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TGGATGATTCGGACCAACCTA	0.338																																						ENST00000389934.3																			0				breast(6)|endometrium(5)|kidney(3)|large_intestine(22)|liver(1)|lung(24)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	81						c.(4426-4428)tcC>tcT		testis expressed 14							92	97	96					17																	56635171		2203	4300	6503	SO:0001819	synonymous_variant	56155					cytoplasm	ATP binding|protein kinase activity	g.chr17:56635171G>A	AF285601	CCDS32692.1, CCDS32693.1, CCDS56042.1	17q22	2013-09-20	2007-03-13		ENSG00000121101	ENSG00000121101			11737	protein-coding gene	gene with protein product	"cancer/testis antigen 113"	605792	"testis expressed sequence 14"			11279525, 12711554	Standard	NM_031272		Approved	CT113	uc010dcz.2	Q8IWB6	OTTHUMG00000179245	ENST00000240361.8:c.4446C>T	17.37:g.56635171G>A						TEX14_ENST00000584699.1_Intron|TEX14_ENST00000240361.8_Silent_p.S1482S|TEX14_ENST00000349033.5_Silent_p.S1436S	p.S1476S	NM_001201457.1|NM_198393.3	NP_001188386.1|NP_938207.2	Q8IWB6	TEX14_HUMAN			32	4545	-	Medulloblastoma(34;0.127)|all_neural(34;0.237)		1482					A6NH19|Q7RTP3|Q8ND97|Q9BXT9	Silent	SNP	ENST00000240361.8	37	c.4428C>T	CCDS56042.1																																																																																				0.338	TEX14-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000445446.1			4	125	0	0	0	1	0	4	125					A	56635171	G	A	56635171	2	1	428	1	0	0	0	0	0	0	0	1	15775	1103	39	2		2	TEX14	17	56635171	Silent	SNP	G	TCGA-XJ-A83H-01A-11D-A34U-08	28254471	56635171	24560039	44	20685											
TEX14	56155	broad.mit.edu	37	chr17	56699054	56699054	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggacgggctgtagacaagccGctgcggggagtctatcttct	7	9	15	10	3	3	1	0	0	3	1	3	3	3	3	1	4	2	3	1	4	3	3	rs374732278		TCGA-XJ-A83H-01A-11D-A34U-08	TCGA-XJ-A83H-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c27050c-aef0-4f06-b6c3-fedca13d658a	eda129be-4306-443e-a904-e4d5d91c9eb7	g.chr17:56699054G>A	ENST00000240361.8	-	5	596	c.511C>T	c.(511-513)Cgg>Tgg	p.R171W	TEX14_ENST00000349033.5_Missense_Mutation_p.R171W|TEX14_ENST00000389934.3_Missense_Mutation_p.R171W			Q8IWB6	TEX14_HUMAN	testis expressed 14	171					attachment of spindle microtubules to kinetochore (GO:0008608)|intercellular bridge organization (GO:0043063)|male meiosis (GO:0007140)|mitotic sister chromatid separation (GO:0051306)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of cytokinesis (GO:0032466)|negative regulation of protein binding (GO:0032091)	cell (GO:0005623)|cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|kinetochore (GO:0000776)|midbody (GO:0030496)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)			breast(6)|endometrium(5)|kidney(3)|large_intestine(22)|liver(1)|lung(24)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	81	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TAGACAAGCCGCTGCGGGGAG	0.587																																						ENST00000389934.3																			0				breast(6)|endometrium(5)|kidney(3)|large_intestine(22)|liver(1)|lung(24)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	81						c.(511-513)Cgg>Tgg		testis expressed 14		G	TRP/ARG,TRP/ARG,TRP/ARG	2,4404	4.2+/-10.8	0,2,2201	68	59	62		511,511,511	3.2	1	17		62	0,8600		0,0,4300	no	missense,missense,missense	TEX14	NM_001201457.1,NM_031272.4,NM_198393.3	101,101,101	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	possibly-damaging,possibly-damaging,possibly-damaging	171/1498,171/1452,171/1492	56699054	2,13004	2203	4300	6503	SO:0001583	missense	56155					cytoplasm	ATP binding|protein kinase activity	g.chr17:56699054G>A	AF285601	CCDS32692.1, CCDS32693.1, CCDS56042.1	17q22	2013-09-20	2007-03-13		ENSG00000121101	ENSG00000121101			11737	protein-coding gene	gene with protein product	"cancer/testis antigen 113"	605792	"testis expressed sequence 14"			11279525, 12711554	Standard	NM_031272		Approved	CT113	uc010dcz.2	Q8IWB6	OTTHUMG00000179245	ENST00000240361.8:c.511C>T	17.37:g.56699054G>A	ENSP00000240361:p.Arg171Trp					TEX14_ENST00000240361.8_Missense_Mutation_p.R171W|TEX14_ENST00000349033.5_Missense_Mutation_p.R171W	p.R171W	NM_001201457.1|NM_198393.3	NP_001188386.1|NP_938207.2	Q8IWB6	TEX14_HUMAN			5	628	-	Medulloblastoma(34;0.127)|all_neural(34;0.237)		171					A6NH19|Q7RTP3|Q8ND97|Q9BXT9	Missense_Mutation	SNP	ENST00000240361.8	37	c.511C>T	CCDS56042.1	.	.	.	.	.	.	.	.	.	.	G	15.83	2.949887	0.53186	4.54E-4	0.0	ENSG00000121101	ENST00000240361;ENST00000389934;ENST00000349033	T;T;T	0.81163	-1.45;-1.46;-1.39	5.42	3.18	0.36537	.	0.308600	0.27464	N	0.019246	T	0.77130	0.4085	L	0.32530	0.975	0.24468	N	0.994402	D;D;D	0.71674	0.997;0.998;0.998	P;P;P	0.59424	0.724;0.857;0.857	T	0.66048	-0.6020	10	0.46703	T	0.11	-9.0002	3.124	0.06401	0.0902:0.1315:0.4754:0.3029	.	171;171;171	Q8IWB6;Q8IWB6-3;Q8IWB6-2	TEX14_HUMAN;.;.	W	171	ENSP00000240361:R171W;ENSP00000374584:R171W;ENSP00000268910:R171W	ENSP00000240361:R171W	R	-	1	2	TEX14	54054053	0.922000	0.31269	0.997000	0.53966	0.163000	0.22366	2.044000	0.41241	1.426000	0.47256	0.563000	0.77884	CGG		0.587	TEX14-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000445446.1			4	47	0	0	0	1	0	4	47					A	56699054	G	A	56699054	3	1	428	1	0	0	0	0	1	0	0	0	15775	1086	38	1	4080	1	TEX14	17	56699054	Missense_Mutation	SNP	G	TCGA-XJ-A83H-01A-11D-A34U-08	63883	56699054	24496156	45	20686											
DDX5	1655	broad.mit.edu	37	chr17	62500099	62500102	+	Splice_Site	DEL	ACAG	ACAG	-																															tcaagagttctcccaaacttAcagacaatgttttcccagat																										TCGA-XJ-A83H-01A-11D-A34U-08	TCGA-XJ-A83H-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c27050c-aef0-4f06-b6c3-fedca13d658a	eda129be-4306-443e-a904-e4d5d91c9eb7	g.chr17:62500099_62500102delACAG	ENST00000225792.5	-	4	841_843	c.440_442delCTGT	c.(439-444)tctgta>tta	p.SV147fs	DDX5_ENST00000578804.1_Splice_Site_p.SV147fs|DDX5_ENST00000580026.1_5'Flank|CEP95_ENST00000556440.2_5'Flank|DDX5_ENST00000450599.2_Intron|MIR5047_ENST00000579212.1_RNA	NM_004396.3	NP_004387.1	P17844	DDX5_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 5	147	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				cell growth (GO:0016049)|circadian rhythm (GO:0007623)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of osteoblast differentiation (GO:0045667)|regulation of skeletal muscle cell differentiation (GO:2001014)|regulation of viral genome replication (GO:0045069)|transcription, DNA-templated (GO:0006351)	catalytic step 2 spliceosome (GO:0071013)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|estrogen receptor binding (GO:0030331)|poly(A) RNA binding (GO:0044822)|pre-mRNA binding (GO:0036002)|RNA helicase activity (GO:0003724)|transcription coactivator activity (GO:0003713)			breast(3)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)	19	Breast(5;2.15e-14)		BRCA - Breast invasive adenocarcinoma(8;8.6e-12)			TCCCAAACTTACAGACAATGTTTT	0.397			T	ETV4	prostate																																NSCLC(22;406 813 4871 19580 40307)	ENST00000225792.5				Dom	yes		17	17q21	1655	T	DEAD (Asp-Glu-Ala-Asp) box polypeptide 5			E	ETV4		prostate		0				breast(3)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)	19						c.e4+1		DEAD (Asp-Glu-Ala-Asp) box helicase 5																																				SO:0001630	splice_region_variant	1655				cell growth|regulation of alternative nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|nucleolus	ATP binding|ATP-dependent helicase activity|mRNA binding|protein binding|RNA helicase activity|transcription cofactor activity	g.chr17:62500099_62500102delACAG	AF015812	CCDS11659.1	17q21	2012-07-27	2012-02-23		ENSG00000108654	ENSG00000108654		"DEAD-boxes"	2746	protein-coding gene	gene with protein product		180630	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 5 (RNA helicase, 68kD)", "DEAD (Asp-Glu-Ala-Asp) box polypeptide 5"	HLR1, G17P1		22156369, 18698352	Standard	NM_004396		Approved	p68	uc002jek.2	P17844	OTTHUMG00000178936	ENST00000225792.5:c.441+1CTGT>-	17.37:g.62500099_62500102delACAG						DDX5_ENST00000578804.1_Splice_Site_p.L149_splice|DDX5_ENST00000450599.2_Intron	p.L149_splice	NM_004396.3	NP_004387.1	P17844	DDX5_HUMAN	BRCA - Breast invasive adenocarcinoma(8;8.6e-12)		4	841_843	-	Breast(5;2.15e-14)		149			Helicase ATP-binding.		B4DLW8|B5BU21|D3DU32|E7ETL9|O75681|Q53Y61	Splice_Site	DEL	ENST00000225792.5	37	c.441_splice	CCDS11659.1																																																																																				0.397	DDX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444030.1	NM_004396	Frame_Shift_Del	32	98						32	98	---	---	---	---	-	62500102	ACAG	-	62500099	8	5	428	1	0	1	0	1	0	0	1	0	4367	405	14	0	1441	0	DDX5	17	62500099	Splice_Site	DEL	ACAG	TCGA-XJ-A83H-01A-11D-A34U-08	5801045	62500099	18695111	46	20687											
CYGB	114757	broad.mit.edu	37	chr17	74527562	74527562	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cttgaagtacaccggttccaCcttgtgcttgagggcgtggg	6	11	14	10	2	0	2	0	2	0	0	1	2	1	2	3	3	2	3	3	3	2	5			TCGA-XJ-A83H-01A-11D-A34U-08	TCGA-XJ-A83H-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c27050c-aef0-4f06-b6c3-fedca13d658a	eda129be-4306-443e-a904-e4d5d91c9eb7	g.chr17:74527562C>T	ENST00000293230.5	-	2	717	c.355G>A	c.(355-357)Gtg>Atg	p.V119M	CYGB_ENST00000589342.1_Missense_Mutation_p.V119M|CYGB_ENST00000590175.1_Missense_Mutation_p.V54M|PRCD_ENST00000592432.1_Intron|CYGB_ENST00000586160.1_5'Flank|CYGB_ENST00000589145.1_Missense_Mutation_p.V54M	NM_134268.4	NP_599030.1	Q8WWM9	CYGB_HUMAN	cytoglobin	119	Globin.				oxidation-reduction process (GO:0055114)|oxygen transport (GO:0015671)|response to oxidative stress (GO:0006979)	cytoplasm (GO:0005737)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxygen binding (GO:0019825)|oxygen transporter activity (GO:0005344)|peroxidase activity (GO:0004601)			breast(1)|endometrium(2)|large_intestine(1)|lung(2)|ovary(1)	7						ACCGGTTCCACCTTGTGCTTG	0.642																																						ENST00000293230.5																			0				breast(1)|endometrium(2)|large_intestine(1)|lung(2)|ovary(1)	7						c.(355-357)Gtg>Atg		cytoglobin							105	89	95					17																	74527562		2203	4300	6503	SO:0001583	missense	114757				response to oxidative stress	cytoplasm	heme binding|oxygen binding|oxygen transporter activity|peroxidase activity	g.chr17:74527562C>T	AJ315162	CCDS11746.1	17q25	2008-07-18				ENSG00000161544			16505	protein-coding gene	gene with protein product	"stellate cell activation-associated protein", "histoglobin"	608759				11919282	Standard	NM_134268		Approved	HGB, STAP	uc002jru.2	Q8WWM9		ENST00000293230.5:c.355G>A	17.37:g.74527562C>T	ENSP00000293230:p.Val119Met					PRCD_ENST00000592432.1_Intron|CYGB_ENST00000589342.1_Missense_Mutation_p.V119M|CYGB_ENST00000589145.1_Missense_Mutation_p.V54M|CYGB_ENST00000590175.1_Missense_Mutation_p.V54M	p.V119M	NM_134268.4	NP_599030.1	Q8WWM9	CYGB_HUMAN			2	717	-			119			Globin.		Q541Y7|Q8N2X5	Missense_Mutation	SNP	ENST00000293230.5	37	c.355G>A	CCDS11746.1	.	.	.	.	.	.	.	.	.	.	C	24.1	4.490241	0.84962	.	.	ENSG00000161544	ENST00000293230	D	0.95447	-3.71	5.52	5.52	0.82312	Globin-like (1);Globin, structural domain (1);	0.000000	0.85682	D	0.000000	D	0.98435	0.9479	M	0.93283	3.4	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.99297	1.0900	10	0.87932	D	0	-16.8729	19.4415	0.94823	0.0:1.0:0.0:0.0	.	119	Q8WWM9	CYGB_HUMAN	M	119	ENSP00000293230:V119M	ENSP00000293230:V119M	V	-	1	0	CYGB	72039157	1.000000	0.71417	1.000000	0.80357	0.501000	0.33797	7.502000	0.81614	2.598000	0.87819	0.462000	0.41574	GTG		0.642	CYGB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450590.1	NM_134268		16	38	0	0	0	1	0	16	38					T	74527562	C	T	74527562	3	4	428	1	0	0	0	0	1	0	0	0	4139	507	18	3	229	3	CYGB	17	74527562	Missense_Mutation	SNP	C	TCGA-XJ-A83H-01A-11D-A34U-08	12027463	74527562	6667648	47	20688											
WDR7	23335	broad.mit.edu	37	chr18	54398817	54398817	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ctaacctcttggcttctgagGcatctgacaaggtaagtttt	9	14	9	9	0	3	2	0	2	3	0	3	2	3	2	1	3	1	4	1	3	3	6	rs560600646		TCGA-XJ-A83H-01A-11D-A34U-08	TCGA-XJ-A83H-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c27050c-aef0-4f06-b6c3-fedca13d658a	eda129be-4306-443e-a904-e4d5d91c9eb7	g.chr18:54398817G>A	ENST00000254442.3	+	14	2189	c.1978G>A	c.(1978-1980)Gca>Aca	p.A660T	WDR7_ENST00000357574.3_Missense_Mutation_p.A660T|WDR7_ENST00000589935.1_Intron	NM_015285.2	NP_056100.2	Q9Y4E6	WDR7_HUMAN	WD repeat domain 7	660					hematopoietic progenitor cell differentiation (GO:0002244)					NS(1)|breast(5)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(37)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	78				Lung(128;0.0238)|Colorectal(16;0.0296)		GGCTTCTGAGGCATCTGACAA	0.393																																						ENST00000254442.3																			0				NS(1)|breast(5)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(37)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	78						c.(1978-1980)Gca>Aca		WD repeat domain 7							114	98	103					18																	54398817		2203	4300	6503	SO:0001583	missense	23335							g.chr18:54398817G>A	AB011113	CCDS11962.1, CCDS11963.1	18q21.31	2013-01-09			ENSG00000091157	ENSG00000091157		"WD repeat domain containing"	13490	protein-coding gene	gene with protein product		613473				10828621	Standard	XM_005266674		Approved	KIAA0541, TRAG	uc002lgk.1	Q9Y4E6	OTTHUMG00000132721	ENST00000254442.3:c.1978G>A	18.37:g.54398817G>A	ENSP00000254442:p.Ala660Thr					WDR7_ENST00000357574.3_Missense_Mutation_p.A660T|WDR7_ENST00000589935.1_Intron	p.A660T	NM_015285.2	NP_056100.2	Q9Y4E6	WDR7_HUMAN		Lung(128;0.0238)|Colorectal(16;0.0296)	14	2189	+			660					A7E2C8|Q86UX5|Q86VP2|Q96PS7	Missense_Mutation	SNP	ENST00000254442.3	37	c.1978G>A	CCDS11962.1	.	.	.	.	.	.	.	.	.	.	G	13.42	2.232115	0.39498	.	.	ENSG00000091157	ENST00000254442;ENST00000357574;ENST00000398311	T;T	0.66638	-0.22;-0.22	5.26	4.36	0.52297	.	0.249082	0.41823	D	0.000803	T	0.45276	0.1334	N	0.08118	0	0.43103	D	0.994793	B;B	0.22414	0.069;0.044	B;B	0.21917	0.037;0.024	T	0.31447	-0.9943	10	0.21540	T	0.41	.	13.053	0.58964	0.0:0.0:0.7079:0.2921	.	660;660	Q9Y4E6-2;Q9Y4E6	.;WDR7_HUMAN	T	660	ENSP00000254442:A660T;ENSP00000350187:A660T	ENSP00000254442:A660T	A	+	1	0	WDR7	52549815	1.000000	0.71417	0.998000	0.56505	0.984000	0.73092	4.952000	0.63618	1.148000	0.42385	0.563000	0.77884	GCA		0.393	WDR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256062.1			4	67	0	0	0	1	0	4	67					A	54398817	G	A	54398817	3	1	428	1	0	0	0	0	1	0	0	0	17317	1203	42	3	2028	3	WDR7	18	54398817	Missense_Mutation	SNP	G	TCGA-XJ-A83H-01A-11D-A34U-08		54398817	23678431	48	20689											
ONECUT2	9480	broad.mit.edu	37	chr18	55103243	55103245	+	In_Frame_Del	DEL	GCG	GCG	-																															gcacggcggcagcggcggcaGcggcggcgtcgcgctcggcc																										TCGA-XJ-A83H-01A-11D-A34U-08	TCGA-XJ-A83H-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c27050c-aef0-4f06-b6c3-fedca13d658a	eda129be-4306-443e-a904-e4d5d91c9eb7	g.chr18:55103243_55103245delGCG	ENST00000491143.2	+	1	327_329	c.295_297delGCG	c.(295-297)gcgdel	p.A101del	AC090340.1_ENST00000581316.1_RNA	NM_004852.2	NP_004843.2	O95948	ONEC2_HUMAN	one cut homeobox 2	101	Poly-Ala.				cell fate commitment (GO:0045165)|cilium assembly (GO:0042384)|endocrine pancreas development (GO:0031018)|epithelial cell development (GO:0002064)|liver development (GO:0001889)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|organ morphogenesis (GO:0009887)|peripheral nervous system neuron development (GO:0048935)|positive regulation of cell migration (GO:0030335)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell-matrix adhesion (GO:0001952)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|lung(4)|ovary(2)|skin(1)	15		Colorectal(73;0.234)		READ - Rectum adenocarcinoma(59;0.227)|Colorectal(16;0.245)		agcggcggcagcggcggcgTCGC	0.773																																						ENST00000491143.2																			0				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|lung(4)|ovary(2)|skin(1)	15						c.(295-297)del		one cut homeobox 2																																				SO:0001651	inframe_deletion	9480				organ morphogenesis	nucleus	sequence-specific DNA binding	g.chr18:55103243_55103245delGCG	Y18198	CCDS42440.1	18q21.31	2012-03-09	2007-07-16		ENSG00000119547	ENSG00000119547		"Homeoboxes / CUT class"	8139	protein-coding gene	gene with protein product		604894	"one cut domain, family member 2"			9915796	Standard	NM_004852		Approved	OC-2	uc002lgo.3	O95948	OTTHUMG00000159776	ENST00000491143.2:c.295_297delGCG	18.37:g.55103249_55103251delGCG	ENSP00000419185:p.Ala101del						p.A101del	NM_004852.2	NP_004843.2	O95948	ONEC2_HUMAN		READ - Rectum adenocarcinoma(59;0.227)|Colorectal(16;0.245)	1	327_329	+		Colorectal(73;0.234)	101			Poly-Ala.			In_Frame_Del	DEL	ENST00000491143.2	37	c.295_297delGCG	CCDS42440.1																																																																																				0.773	ONECUT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357264.3			2	4						2	4	---	---	---	---	-	55103245	GCG	-	55103243	7	5	428	1	0	1	0	1	0	0	0	0	10869	971	34	0	297	0	ONECUT2	18	55103243	In_Frame_Del	DEL	GCG	TCGA-XJ-A83H-01A-11D-A34U-08	704426	55103243	22974005	49	20690											
KANK2	25959	broad.mit.edu	37	chr19	11303962	11303962	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaacccaggtgcccacactcCgggtctccagtgccactggg	7	6	12	16	1	1	0	0	0	1	0	3	1	2	0	5	3	3	0	5	3	1	0	rs201517586	byFrequency	TCGA-XJ-A83H-01A-11D-A34U-08	TCGA-XJ-A83H-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c27050c-aef0-4f06-b6c3-fedca13d658a	eda129be-4306-443e-a904-e4d5d91c9eb7	g.chr19:11303962C>T	ENST00000586659.1	-	4	1108	c.794G>A	c.(793-795)cGg>cAg	p.R265Q	KANK2_ENST00000355150.5_Missense_Mutation_p.R265Q|KANK2_ENST00000589359.1_Missense_Mutation_p.R265Q|KANK2_ENST00000589894.1_Missense_Mutation_p.R265Q|KANK2_ENST00000432929.2_Missense_Mutation_p.R265Q			Q63ZY3	KANK2_HUMAN	KN motif and ankyrin repeat domains 2	265					apoptotic process (GO:0006915)|negative regulation of cell proliferation (GO:0008285)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of programmed cell death (GO:0043069)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)				endometrium(2)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						GCCCACACTCCGGGTCTCCAG	0.682													C|||	2	0.000399361	0.0015	0	5008	,	,		16272	0		0	False		,,,				2504	0					ENST00000432929.2																			0				endometrium(2)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						c.(793-795)cGg>cAg		KN motif and ankyrin repeat domains 2							25	28	27					19																	11303962		2201	4296	6497	SO:0001583	missense	25959							g.chr19:11303962C>T	AK000011	CCDS12255.1, CCDS54219.1	19p13.2	2013-01-10	2008-01-29	2008-01-29		ENSG00000197256		"KN motif and ankyrin repeat domain containing", "Ankyrin repeat domain containing"	29300	protein-coding gene	gene with protein product		614610	"matrix-remodelling associated 3", "ankyrin repeat domain 25"	MXRA3, ANKRD25		10819331, 17996375, 19554261	Standard	NM_015493		Approved	KIAA1518	uc002mqm.3	Q63ZY3		ENST00000586659.1:c.794G>A	19.37:g.11303962C>T	ENSP00000465650:p.Arg265Gln					KANK2_ENST00000589894.1_Missense_Mutation_p.R265Q|KANK2_ENST00000586659.1_Missense_Mutation_p.R265Q|KANK2_ENST00000355150.5_Missense_Mutation_p.R265Q|KANK2_ENST00000589359.1_Missense_Mutation_p.R265Q	p.R265Q	NM_001136191.2	NP_001129663.1	Q63ZY3	KANK2_HUMAN			4	1154	-			265					B0I1P4|Q3KQZ3|Q6GUF5|Q9H8S4|Q9NUP0|Q9P210	Missense_Mutation	SNP	ENST00000586659.1	37	c.794G>A	CCDS12255.1	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	C	17.85	3.490426	0.64074	.	.	ENSG00000197256	ENST00000432929;ENST00000355150	T;T	0.50813	0.73;0.75	3.87	3.87	0.44632	.	0.079470	0.47093	U	0.000259	T	0.57021	0.2025	L	0.36672	1.1	0.32523	N	0.535977	D;D;D	0.89917	0.999;0.986;1.0	P;P;D	0.69307	0.905;0.448;0.963	T	0.67608	-0.5627	10	0.59425	D	0.04	-24.2488	14.5938	0.68389	0.0:1.0:0.0:0.0	.	265;265;265	Q63ZY3-3;Q63ZY3;Q63ZY3-2	.;KANK2_HUMAN;.	Q	265	ENSP00000395650:R265Q;ENSP00000347276:R265Q	ENSP00000347276:R265Q	R	-	2	0	KANK2	11164962	0.054000	0.20591	0.790000	0.31976	0.652000	0.38707	0.831000	0.27476	1.708000	0.51301	0.313000	0.20887	CGG		0.682	KANK2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000453066.2	NM_015493		5	30	0	0	0	1	0	5	30					T	11303962	C	T	11303962	3	4	428	1	0	0	0	0	1	0	0	0	7977	652	23	2	1825	2	KANK2	19	11303962	Missense_Mutation	SNP	C	TCGA-XJ-A83H-01A-11D-A34U-08		11303962	47825021	50	20691											
KRTAP10-7	386675	broad.mit.edu	37	chr21	46021151	46021151	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctgcatcagctcctgcacGccctcgtgctgccagcagtc	5	8	11	17	2	1	0	1	0	0	0	4	0	2	0	3	1	6	6	3	1	0	0			TCGA-XJ-A83H-01A-11D-A34U-08	TCGA-XJ-A83H-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c27050c-aef0-4f06-b6c3-fedca13d658a	eda129be-4306-443e-a904-e4d5d91c9eb7	g.chr21:46021151G>A	ENST00000380102.2	+	1	655	c.630G>A	c.(628-630)acG>acA	p.T210T	TSPEAR_ENST00000323084.4_Intron	NM_198689.2	NP_941962.1	P60409	KR107_HUMAN	keratin associated protein 10-7	210	30 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)				breast(1)|large_intestine(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	8						GCTCCTGCACGCCCTCGTGCT	0.667																																						ENST00000380102.2																			0				breast(1)|large_intestine(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	8						c.(628-630)acG>acA		keratin associated protein 10-7							51	51	51					21																	46021151		2202	4280	6482	SO:0001819	synonymous_variant	386675					keratin filament		g.chr21:46021151G>A	AJ566385	CCDS74803.1	21q22.3	2014-04-10			ENSG00000205441	ENSG00000272804		"Keratin associated proteins"	22970	protein-coding gene	gene with protein product				KRTAP18-7			Standard	NM_198689		Approved	KAP10.7, KAP18.7	uc002zfn.4	P60409	OTTHUMG00000188307	ENST00000380102.2:c.630G>A	21.37:g.46021151G>A						TSPEAR_ENST00000323084.4_Intron	p.T210T	NM_198689.2	NP_941962.1	P60409	KR107_HUMAN			1	655	+			210			30 X 5 AA repeats of C-C-X(3).		Q0VDJ8|Q70LJ2	Silent	SNP	ENST00000380102.2	37	c.630G>A																																																																																					0.667	KRTAP10-7-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000128038.1	NM_198689		4	100	0	0	0	1	0	4	100					A	46021151	G	A	46021151	2	1	428	1	0	0	0	0	0	0	0	1	8514	1074	38	1		1	KRTAP10-7	21	46021151	Silent	SNP	G	TCGA-XJ-A83H-01A-11D-A34U-08		46021151	2108744	51	20692											
SMCR7L	54471	broad.mit.edu	37	chr22	39908032	39908032	+	Splice_Site	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ctcctccaccttcgacacagGtgagaagggctgctgcccct	7	8	10	16	1	0	1	0	1	0	1	3	3	2	1	5	2	2	2	5	2	1	1			TCGA-XJ-A83H-01A-11D-A34U-08	TCGA-XJ-A83H-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c27050c-aef0-4f06-b6c3-fedca13d658a	eda129be-4306-443e-a904-e4d5d91c9eb7	g.chr22:39908032G>C	ENST00000325301.2	+	4	746		c.e4+1		MIEF1_ENST00000402881.1_Splice_Site|MIEF1_ENST00000404569.1_Splice_Site	NM_019008.4	NP_061881.2	Q9NQG6	MID51_HUMAN	mitochondrial elongation factor 1						mitochondrial fission (GO:0000266)|positive regulation of mitochondrial fission (GO:0090141)|positive regulation of protein targeting to membrane (GO:0090314)	integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	ADP binding (GO:0043531)|GDP binding (GO:0019003)|identical protein binding (GO:0042802)	p.?(1)									TTCGACACAGGTGAGAAGGGC	0.597																																						ENST00000325301.2																			1	Unknown(1)	p.?(1)	lung(1)	central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(1)|liver(1)|lung(6)|ovary(1)|skin(1)	16						c.e4+1									58	65	63					22																	39908032		2203	4300	6503	SO:0001630	splice_region_variant	0					integral to membrane|mitochondrion		g.chr22:39908032G>C	AL365515	CCDS13995.1	22q13.1	2013-09-23	2013-09-23	2013-09-23	ENSG00000100335	ENSG00000100335			25979	protein-coding gene	gene with protein product		615497	"Smith-Magenis syndrome chromosome region, candidate 7-like"	SMCR7L		21508961, 21701560	Standard	NM_019008		Approved	FLJ20232, MiD51	uc003axx.3	Q9NQG6	OTTHUMG00000151105	ENST00000325301.2:c.322+1G>C	22.37:g.39908032G>C						SMCR7L_ENST00000404569.1_Splice_Site|SMCR7L_ENST00000402881.1_Splice_Site		NM_019008.4	NP_061881.2	Q9NQG6	SMC7L_HUMAN			4	746	+	Melanoma(58;0.04)							Q7L890|Q9BUI3	Splice_Site	SNP	ENST00000325301.2	37		CCDS13995.1	.	.	.	.	.	.	.	.	.	.	G	14.34	2.505378	0.44558	.	.	ENSG00000100335	ENST00000402881;ENST00000325301;ENST00000404569	.	.	.	5.87	5.87	0.94306	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.2227	0.98327	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SMCR7L	38237978	1.000000	0.71417	1.000000	0.80357	0.113000	0.19764	9.465000	0.97660	2.778000	0.95560	0.650000	0.86243	.		0.597	MIEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321325.1	NM_019008	Intron	5	46	0	0	0	1	0	5	46					C	39908032	G	C	39908032	5	2	428	1	0	0	0	0	0	0	1	0	14791	1275	44	5	329	5	SMCR7L	22	39908032	Splice_Site	SNP	G	TCGA-XJ-A83H-01A-11D-A34U-08		39908032	11396534	52	20693											
TAF13	6884	broad.mit.edu	37	chr1	109608797	109608797	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgacaagatcttcaagaataTccactgactcagtataagga	16	10	7	8	0	3	4	2	2	1	2	4	5	4	5	1	1	0	1	1	1	6	4			TCGA-XJ-A9DI-01A-11D-A377-08	TCGA-XJ-A9DI-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344706a8-f56a-4d3b-b7f9-97eb0aa3924d	0d12cfa6-26d0-40cd-9278-2fc8f1f81f08	g.chr1:109608797T>C	ENST00000338366.5	-	3	218	c.164A>G	c.(163-165)gAt>gGt	p.D55G		NM_005645.3	NP_005636.1	Q15543	TAF13_HUMAN	TAF13 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 18kDa	55					DNA-templated transcription, initiation (GO:0006352)|gene expression (GO:0010467)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)	DNA binding (GO:0003677)|protein C-terminus binding (GO:0008022)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|large_intestine(1)|lung(1)	3		all_epithelial(167;0.000102)|all_lung(203;0.000321)|Lung NSC(277;0.000626)		Colorectal(144;0.0138)|Lung(183;0.0425)|COAD - Colon adenocarcinoma(174;0.113)|Epithelial(280;0.166)|all cancers(265;0.191)|LUSC - Lung squamous cell carcinoma(189;0.228)		TTCAAGAATATCCACTGACTC	0.318																																						ENST00000338366.5																			0				endometrium(1)|large_intestine(1)|lung(1)	3						c.(163-165)gAt>gGt		TAF13 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 18kDa							98	92	94					1																	109608797		2203	4295	6498	SO:0001583	missense	6884				transcription elongation from RNA polymerase II promoter|viral reproduction	transcription factor TFIID complex	protein C-terminus binding|sequence-specific DNA binding transcription factor activity	g.chr1:109608797T>C	XM_496381	CCDS30788.1	1p13.3	2010-04-22	2002-08-29	2001-12-07	ENSG00000197780	ENSG00000197780			11546	protein-coding gene	gene with protein product		600774	"TATA box binding protein (TBP)-associated factor, RNA polymerase II, K, 18kD"	TAF2K		7729427	Standard	NM_005645		Approved	TAFII18	uc001dwm.1	Q15543	OTTHUMG00000042363	ENST00000338366.5:c.164A>G	1.37:g.109608797T>C	ENSP00000355051:p.Asp55Gly						p.D55G	NM_005645.3	NP_005636.1	Q15543	TAF13_HUMAN		Colorectal(144;0.0138)|Lung(183;0.0425)|COAD - Colon adenocarcinoma(174;0.113)|Epithelial(280;0.166)|all cancers(265;0.191)|LUSC - Lung squamous cell carcinoma(189;0.228)	3	218	-		all_epithelial(167;0.000102)|all_lung(203;0.000321)|Lung NSC(277;0.000626)	55					B2R5E5|Q5TYV6	Missense_Mutation	SNP	ENST00000338366.5	37	c.164A>G	CCDS30788.1	.	.	.	.	.	.	.	.	.	.	T	27.1	4.800812	0.90538	.	.	ENSG00000197780	ENST00000338366	.	.	.	5.65	5.65	0.86999	Histone-fold (2);	0.000000	0.85682	D	0.000000	T	0.64627	0.2615	M	0.78637	2.42	0.80722	D	1	P	0.47191	0.891	P	0.49922	0.626	T	0.70824	-0.4767	9	0.62326	D	0.03	.	13.8738	0.63638	0.0:0.0:0.0:1.0	.	55	Q15543	TAF13_HUMAN	G	55	.	ENSP00000355051:D55G	D	-	2	0	TAF13	109410320	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.260000	0.78391	2.371000	0.80710	0.533000	0.62120	GAT		0.318	TAF13-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000100609.2	NM_005645		8	102	0	0	0	1	0	8	102					C	109608797	T	C	109608797	3	2	429	1	0	0	0	0	1	0	0	0	15514	1435	50	4	218	4	TAF13	1	109608797	Missense_Mutation	SNP	T	TCGA-XJ-A9DI-01A-11D-A377-08		109608797	139641824	1	20694											
C1orf9	51430	broad.mit.edu	37	chr1	172555033	172555033	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgagaatgccactgccacaGctgcacctaaaatgcctgaa	13	7	8	13	0	0	2	0	2	0	1	0	3	0	2	4	0	5	2	4	0	4	1			TCGA-XJ-A9DI-01A-11D-A377-08	TCGA-XJ-A9DI-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344706a8-f56a-4d3b-b7f9-97eb0aa3924d	0d12cfa6-26d0-40cd-9278-2fc8f1f81f08	g.chr1:172555033G>A	ENST00000263688.3	+	17	1822	c.1603G>A	c.(1603-1605)Gct>Act	p.A535T	SUCO_ENST00000610051.1_Missense_Mutation_p.A498T|SUCO_ENST00000608151.1_Missense_Mutation_p.A687T|SUCO_ENST00000367723.4_Missense_Mutation_p.A686T	NM_014283.3	NP_055098.1	Q9UBS9	SUCO_HUMAN	SUN domain containing ossification factor	535					multicellular organismal development (GO:0007275)|ossification (GO:0001503)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of osteoblast differentiation (GO:0045669)|regulation of bone remodeling (GO:0046850)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|rough endoplasmic reticulum (GO:0005791)											CACTGCCACAGCTGCACCTAA	0.333																																						ENST00000367723.3																			0											c.(2059-2061)Gct>Act		SUN domain containing ossification factor							159	176	170					1																	172555033		2203	4300	6503	SO:0001583	missense	51430							g.chr1:172555033G>A	AF097535	CCDS1303.1, CCDS65726.1, CCDS65727.1, CCDS72984.1	1q24	2012-07-10	2012-07-10	2012-07-10	ENSG00000094975	ENSG00000094975			1240	protein-coding gene	gene with protein product	"SUN-like protein 1", "osteopotentia"		"chromosome 1 open reading frame 9"	C1orf9		10673381, 20440000	Standard	NM_001282750		Approved	CH1, SLP1, OPT	uc001giq.4	Q9UBS9	OTTHUMG00000034839	ENST00000263688.3:c.1603G>A	1.37:g.172555033G>A	ENSP00000263688:p.Ala535Thr					SUCO_ENST00000263688.3_Missense_Mutation_p.A535T	p.A687T	NM_016227.2	NP_057311.2					16	2183	+								B2RNU4|Q9BQB9|Q9BXQ2|Q9UL04	Missense_Mutation	SNP	ENST00000263688.3	37	c.2059G>A	CCDS1303.1	.	.	.	.	.	.	.	.	.	.	G	10.93	1.489336	0.26686	.	.	ENSG00000094975	ENST00000367723;ENST00000263688	.	.	.	4.96	-9.91	0.00458	.	0.787465	0.12313	N	0.480015	T	0.07188	0.0182	L	0.29908	0.895	0.20196	N	0.99993	B;B;B;B	0.10296	0.0;0.0;0.003;0.0	B;B;B;B	0.08055	0.0;0.001;0.003;0.001	T	0.28170	-1.0052	9	0.09590	T	0.72	0.162	12.4263	0.55548	0.6573:0.0873:0.2553:0.0	.	498;535;687;535	B4DYM4;B4DZJ3;Q5H945;Q9UBS9	.;.;.;OSPT_HUMAN	T	687;535	.	ENSP00000263688:A535T	A	+	1	0	C1orf9	170821656	0.929000	0.31497	0.148000	0.22405	0.934000	0.57294	-0.117000	0.10708	-2.562000	0.00473	-1.224000	0.01588	GCT		0.333	SUCO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084273.1	NM_016227		5	127	0	0	0	1	0	5	127					A	172555033	G	A	172555033	3	1	429	1	0	0	0	0	1	0	0	0	2067	971	34	3	1669	3	C1orf9	1	172555033	Missense_Mutation	SNP	G	TCGA-XJ-A9DI-01A-11D-A377-08	62946236	172555033	76695588	2	20695											
C1orf125	126859	broad.mit.edu	37	chr1	179347852	179347852	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttgtcccccacatttggcccGttcattacagtcacatgatg	8	13	7	13	1	2	1	2	1	0	0	3	1	3	1	3	1	1	1	3	1	1	4	rs199947499		TCGA-XJ-A9DI-01A-11D-A377-08	TCGA-XJ-A9DI-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344706a8-f56a-4d3b-b7f9-97eb0aa3924d	0d12cfa6-26d0-40cd-9278-2fc8f1f81f08	g.chr1:179347852G>A	ENST00000367618.3	+	5	842	c.455G>A	c.(454-456)cGt>cAt	p.R152H	AXDND1_ENST00000457238.2_Missense_Mutation_p.R152H|AXDND1_ENST00000461179.2_3'UTR	NM_144696.4	NP_653297.3	Q5T1B0	AXDN1_HUMAN	axonemal dynein light chain domain containing 1	152										NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(27)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	59						CATTTGGCCCGTTCATTACAG	0.363													G|||	1	0.000199681	0	0	5008	,	,		14137	0.001		0	False		,,,				2504	0					ENST00000367618.3																			0				NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(27)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	59						c.(454-456)cGt>cAt		axonemal dynein light chain domain containing 1		G	HIS/ARG	0,4406		0,0,2203	120	98	105		455	-3.7	0	1		105	1,8599	1.2+/-3.3	0,1,4299	no	missense	AXDND1	NM_144696.4	29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	152/1013	179347852	1,13005	2203	4300	6503	SO:0001583	missense	126859							g.chr1:179347852G>A	BX647935	CCDS30948.1	1q25.2	2011-02-18	2011-02-18	2011-02-18	ENSG00000162779	ENSG00000162779			26564	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 125"	C1orf125		14702039	Standard	NM_144696		Approved	FLJ32940	uc001gmo.3	Q5T1B0	OTTHUMG00000035266	ENST00000367618.3:c.455G>A	1.37:g.179347852G>A	ENSP00000356590:p.Arg152His					AXDND1_ENST00000461179.2_3'UTR|AXDND1_ENST00000457238.2_Missense_Mutation_p.R152H	p.R152H	NM_144696.4	NP_653297.3	Q5T1B0	AXDN1_HUMAN			5	842	+			152					Q6AWB2|Q96LJ3|Q96M01	Missense_Mutation	SNP	ENST00000367618.3	37	c.455G>A	CCDS30948.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	7.451	0.642732	0.14451	0.0	1.16E-4	ENSG00000162779	ENST00000509175;ENST00000367618;ENST00000360322;ENST00000457238;ENST00000511889;ENST00000434088	T;T;T	0.49139	2.1;0.79;2.11	3.17	-3.71	0.04424	.	1.360170	0.04593	N	0.397158	T	0.25082	0.0609	N	0.04018	-0.295	0.09310	N	1	B;B	0.12630	0.0;0.006	B;B	0.04013	0.0;0.001	T	0.23190	-1.0195	10	0.44086	T	0.13	6.7635	9.1407	0.36901	0.3905:0.0:0.6095:0.0	.	110;152	E9PCJ4;Q5T1B0	.;AXDN1_HUMAN	H	110;152;110;152;110;86	ENSP00000356590:R152H;ENSP00000416712:R152H;ENSP00000391716:R86H	ENSP00000353471:R110H	R	+	2	0	AXDND1	177614475	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	-1.603000	0.02077	-0.852000	0.04141	-0.362000	0.07510	CGT		0.363	AXDND1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085312.1	NM_144696		7	79	0	0	0	1	0	7	79					A	179347852	G	A	179347852	3	1	429	1	0	0	0	0	1	0	0	0	1993	1145	40	1	469	1	C1orf125	1	179347852	Missense_Mutation	SNP	G	TCGA-XJ-A9DI-01A-11D-A377-08	6792819	179347852	69902769	3	20696											
ASPM	259266	broad.mit.edu	37	chr1	197056095	197056095	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	caacaactttggacctacttCgtacatcctacaaaataaaa	17	10	3	11	1	0	0	0	0	0	0	2	1	1	1	2	1	5	1	2	1	9	6			TCGA-XJ-A9DI-01A-11D-A377-08	TCGA-XJ-A9DI-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344706a8-f56a-4d3b-b7f9-97eb0aa3924d	0d12cfa6-26d0-40cd-9278-2fc8f1f81f08	g.chr1:197056095C>T	ENST00000367409.4	-	27	10425	c.10169G>A	c.(10168-10170)cGa>cAa	p.R3390Q	ASPM_ENST00000367408.1_Missense_Mutation_p.R1055Q|ASPM_ENST00000294732.7_Missense_Mutation_p.R1805Q	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	3390					developmental growth (GO:0048589)|forebrain neuroblast division (GO:0021873)|maintenance of centrosome location (GO:0051661)|mitotic nuclear division (GO:0007067)|negative regulation of asymmetric cell division (GO:0045769)|negative regulation of neuron differentiation (GO:0045665)|neuron migration (GO:0001764)|oogenesis (GO:0048477)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of neuroblast proliferation (GO:0002052)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle pole (GO:0000922)				breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						GGACCTACTTCGTACATCCTA	0.274																																						ENST00000367409.4																			0				breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						c.(10168-10170)cGa>cAa		asp (abnormal spindle) homolog, microcephaly associated (Drosophila)							55	55	55					1																	197056095		2201	4297	6498	SO:0001583	missense	259266				mitosis	cytoplasm|nucleus	calmodulin binding	g.chr1:197056095C>T	AY367065	CCDS1389.1, CCDS55672.1	1q31	2008-02-05	2006-09-12		ENSG00000066279	ENSG00000066279			19048	protein-coding gene	gene with protein product		605481	"microcephaly, primary autosomal recessive 5", "asp (abnormal spindle)-like, microcephaly associated (Drosophila)"	MCPH5		11078481	Standard	NM_018136		Approved	Calmbp1, ASP, FLJ10517, FLJ10549	uc001gtu.3	Q8IZT6	OTTHUMG00000036277	ENST00000367409.4:c.10169G>A	1.37:g.197056095C>T	ENSP00000356379:p.Arg3390Gln					ASPM_ENST00000294732.7_Missense_Mutation_p.R1805Q|ASPM_ENST00000367408.1_Missense_Mutation_p.R1055Q	p.R3390Q	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN			27	10425	-			3390					Q4G1H1|Q5VYL3|Q86UX4|Q8IUL2|Q8IZJ7|Q8IZJ8|Q8IZJ9|Q8N4D1|Q9NVS1|Q9NVT6	Missense_Mutation	SNP	ENST00000367409.4	37	c.10169G>A	CCDS1389.1	.	.	.	.	.	.	.	.	.	.	C	11.82	1.751615	0.31046	.	.	ENSG00000066279	ENST00000367409;ENST00000294732;ENST00000367408	T;T;T	0.58358	0.34;1.67;1.36	5.76	1.85	0.25348	.	0.234998	0.34200	N	0.004166	T	0.30293	0.0760	N	0.21583	0.68	0.19945	N	0.99994	P;P	0.46277	0.553;0.875	B;B	0.35312	0.022;0.2	T	0.15607	-1.0431	10	0.28530	T	0.3	.	9.7572	0.40510	0.0:0.7179:0.0:0.2821	.	1805;3390	Q4G1H1;Q8IZT6	.;ASPM_HUMAN	Q	3390;1805;1055	ENSP00000356379:R3390Q;ENSP00000294732:R1805Q;ENSP00000356378:R1055Q	ENSP00000294732:R1805Q	R	-	2	0	ASPM	195322718	0.771000	0.28555	0.997000	0.53966	0.601000	0.36947	0.332000	0.19751	0.085000	0.17107	-0.768000	0.03414	CGA		0.274	ASPM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000088256.1	NM_018136		4	80	0	0	0	1	0	4	80					T	197056095	C	T	197056095	3	4	429	1	0	0	0	0	1	0	0	0	1056	884	31	2	272	2	ASPM	1	197056095	Missense_Mutation	SNP	C	TCGA-XJ-A9DI-01A-11D-A377-08	17708243	197056095	52194526	4	20697											
SUSD4	55061	broad.mit.edu	37	chr1	223465960	223465960	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tgaagccattctcgggaatgCcggggtcagcacacacttga	10	8	12	11	2	2	2	1	2	1	0	3	3	2	3	2	3	3	1	2	3	2	2			TCGA-XJ-A9DI-01A-11D-A377-08	TCGA-XJ-A9DI-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344706a8-f56a-4d3b-b7f9-97eb0aa3924d	0d12cfa6-26d0-40cd-9278-2fc8f1f81f08	g.chr1:223465960C>T	ENST00000343846.3	-	2	815	c.182G>A	c.(181-183)gGc>gAc	p.G61D	SUSD4_ENST00000366878.4_Missense_Mutation_p.G61D|SUSD4_ENST00000494793.2_Missense_Mutation_p.G61D|SUSD4_ENST00000478605.1_5'UTR|SUSD4_ENST00000454695.2_5'UTR|SUSD4_ENST00000344029.6_Missense_Mutation_p.G61D|SUSD4_ENST00000484758.2_Intron			Q5VX71	SUSD4_HUMAN	sushi domain containing 4	61	Sushi 1. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)		p.G61D(2)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|skin(1)	17				GBM - Glioblastoma multiforme(131;0.0611)		CTCGGGAATGCCGGGGTCAGC	0.522																																						ENST00000343846.3																			2	Substitution - Missense(2)	p.G61D(2)	lung(2)	cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|skin(1)	17						c.(181-183)gGc>gAc		sushi domain containing 4							60	68	65					1																	223465960		2203	4300	6503	SO:0001583	missense	55061					integral to membrane		g.chr1:223465960C>T	AK096265	CCDS31034.1, CCDS41471.1	1q41	2008-05-14			ENSG00000143502	ENSG00000143502			25470	protein-coding gene	gene with protein product		615827				12477932	Standard	NM_017982		Approved	FLJ10052	uc001hny.4	Q5VX71	OTTHUMG00000037936	ENST00000343846.3:c.182G>A	1.37:g.223465960C>T	ENSP00000344219:p.Gly61Asp					SUSD4_ENST00000478605.1_5'UTR|SUSD4_ENST00000366878.4_Missense_Mutation_p.G61D|SUSD4_ENST00000344029.6_Missense_Mutation_p.G61D|SUSD4_ENST00000454695.2_5'UTR	p.G61D			Q5VX71	SUSD4_HUMAN		GBM - Glioblastoma multiforme(131;0.0611)	2	815	-			61			Sushi 1.		D3DTB9|Q6UX62|Q9BSR0|Q9NWG0	Missense_Mutation	SNP	ENST00000343846.3	37	c.182G>A	CCDS41471.1	.	.	.	.	.	.	.	.	.	.	C	15.12	2.738234	0.49045	.	.	ENSG00000143502	ENST00000343846;ENST00000366878;ENST00000271787;ENST00000344029	T;T;T	0.63417	-0.04;-0.04;-0.04	5.43	5.43	0.79202	Complement control module (2);Sushi/SCR/CCP (3);	0.000000	0.48286	D	0.000196	T	0.78285	0.4259	M	0.80616	2.505	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.70935	0.971;0.968	T	0.80462	-0.1372	10	0.62326	D	0.03	-29.6036	12.5651	0.56306	0.0:0.9238:0.0:0.0762	.	61;61	Q5VX71-3;Q5VX71	.;SUSD4_HUMAN	D	61	ENSP00000344219:G61D;ENSP00000355843:G61D;ENSP00000339926:G61D	ENSP00000271787:G61D	G	-	2	0	SUSD4	221532583	0.991000	0.36638	0.972000	0.41901	0.120000	0.20174	4.086000	0.57664	2.547000	0.85894	0.561000	0.74099	GGC		0.522	SUSD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092592.2	NM_017982		5	75	0	0	0	1	0	5	75					T	223465960	C	T	223465960	3	4	429	1	0	0	0	0	1	0	0	0	15407	739	26	3	1471	3	SUSD4	1	223465960	Missense_Mutation	SNP	C	TCGA-XJ-A9DI-01A-11D-A377-08	26409865	223465960	25784661	5	20698											
HTRA2	27429	broad.mit.edu	37	chr2	74757848	74757848	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccatgtggtggctgatcggcGcagagtccgtgtgagactgc	6	9	16	10	3	0	3	0	2	0	2	2	4	1	3	2	3	1	2	2	3	0	0			TCGA-XJ-A9DI-01A-11D-A377-08	TCGA-XJ-A9DI-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344706a8-f56a-4d3b-b7f9-97eb0aa3924d	0d12cfa6-26d0-40cd-9278-2fc8f1f81f08	g.chr2:74757848G>A	ENST00000258080.3	+	2	1241	c.611G>A	c.(610-612)cGc>cAc	p.R204H	HTRA2_ENST00000467961.1_3'UTR|HTRA2_ENST00000352222.3_Missense_Mutation_p.R204H|AUP1_ENST00000377526.3_5'Flank	NM_013247.4	NP_037379.1	O43464	HTRA2_HUMAN	HtrA serine peptidase 2	204	Serine protease.				adult walking behavior (GO:0007628)|cellular protein catabolic process (GO:0044257)|cellular response to growth factor stimulus (GO:0071363)|cellular response to heat (GO:0034605)|cellular response to interferon-beta (GO:0035458)|cellular response to oxidative stress (GO:0034599)|cellular response to retinoic acid (GO:0071300)|ceramide metabolic process (GO:0006672)|execution phase of apoptosis (GO:0097194)|forebrain development (GO:0030900)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|mitochondrion organization (GO:0007005)|negative regulation of cell cycle (GO:0045786)|negative regulation of neuron death (GO:1901215)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|neuron development (GO:0048666)|pentacyclic triterpenoid metabolic process (GO:0019742)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell death (GO:0010942)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:2001269)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|protein autoprocessing (GO:0016540)|proteolysis (GO:0006508)|regulation of mitochondrion degradation (GO:1903146)|regulation of multicellular organism growth (GO:0040014)|response to herbicide (GO:0009635)	CD40 receptor complex (GO:0035631)|chromatin (GO:0000785)|cytoplasmic side of plasma membrane (GO:0009898)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|membrane (GO:0016020)|mitochondrial intermembrane space (GO:0005758)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)|unfolded protein binding (GO:0051082)			endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	12						GCTGATCGGCGCAGAGTCCGT	0.602																																						ENST00000258080.3																			0				endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	12						c.(610-612)cGc>cAc		HtrA serine peptidase 2							59	61	61					2																	74757848		2203	4300	6503	SO:0001583	missense	27429				apoptosis|proteolysis|response to stress	CD40 receptor complex|endoplasmic reticulum membrane|internal side of plasma membrane|mitochondrial intermembrane space|mitochondrial membrane|nucleus	serine-type endopeptidase activity|unfolded protein binding	g.chr2:74757848G>A		CCDS1951.1, CCDS1952.1	2p13.1	2011-07-21	2005-08-19	2005-08-19	ENSG00000115317	ENSG00000115317		"Serine peptidases / Serine peptidases", "Parkinson disease"	14348	protein-coding gene	gene with protein product		606441	"protease, serine, 25"	PRSS25		10644717, 10971580	Standard	XM_005264266		Approved	OMI, PARK13	uc002smi.1	O43464	OTTHUMG00000129957	ENST00000258080.3:c.611G>A	2.37:g.74757848G>A	ENSP00000258080:p.Arg204His					HTRA2_ENST00000352222.3_Missense_Mutation_p.R204H|HTRA2_ENST00000467961.1_3'UTR	p.R204H	NM_013247.4	NP_037379.1	O43464	HTRA2_HUMAN			2	1241	+			204			Serine protease.		Q9HBZ4|Q9P0Y3|Q9P0Y4	Missense_Mutation	SNP	ENST00000258080.3	37	c.611G>A	CCDS1951.1	.	.	.	.	.	.	.	.	.	.	G	18.81	3.702439	0.68501	.	.	ENSG00000115317	ENST00000258080;ENST00000352222;ENST00000437202	D;D;D	0.88586	-2.4;-2.4;-2.4	4.94	4.94	0.65067	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (2);	0.109678	0.64402	D	0.000009	D	0.88570	0.6472	L	0.27975	0.815	0.27912	N	0.938579	D;D;D;D	0.89917	0.985;1.0;0.999;0.985	P;D;D;P	0.70016	0.607;0.967;0.956;0.607	T	0.80852	-0.1197	10	0.35671	T	0.21	-7.3943	9.1348	0.36868	0.0967:0.0:0.9033:0.0	.	204;204;204;204	A8K7G2;O43464-3;O43464-2;O43464	.;.;.;HTRA2_HUMAN	H	204;204;191	ENSP00000258080:R204H;ENSP00000312893:R204H;ENSP00000399166:R191H	ENSP00000258080:R204H	R	+	2	0	HTRA2	74611356	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.747000	0.85070	2.584000	0.87258	0.462000	0.41574	CGC		0.602	HTRA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252219.2	NM_013247		3	48	0	0	0	1	0	3	48					A	74757848	G	A	74757848	3	1	429	1	0	0	0	0	1	0	0	0	7454	1087	38	1	617	1	HTRA2	2	74757848	Missense_Mutation	SNP	G	TCGA-XJ-A9DI-01A-11D-A377-08		74757848	168441525	6	20699											
RFTN2	130132	broad.mit.edu	37	chr2	198498532	198498532	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atgaagttcttcctcaattcCgctttcagatgactgcccac	9	13	6	13	1	3	3	2	2	1	1	5	3	5	3	3	0	1	2	3	0	2	4			TCGA-XJ-A9DI-01A-11D-A377-08	TCGA-XJ-A9DI-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344706a8-f56a-4d3b-b7f9-97eb0aa3924d	0d12cfa6-26d0-40cd-9278-2fc8f1f81f08	g.chr2:198498532C>T	ENST00000295049.4	-	4	1164	c.628G>A	c.(628-630)Gga>Aga	p.G210R		NM_144629.2	NP_653230.2	Q52LD8	RFTN2_HUMAN	raftlin family member 2	210					dsRNA transport (GO:0033227)|response to exogenous dsRNA (GO:0043330)	plasma membrane (GO:0005886)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(13)|urinary_tract(3)	30						TCCTCAATTCCGCTTTCAGAT	0.413																																						ENST00000295049.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(13)|urinary_tract(3)	30						c.(628-630)Gga>Aga		raftlin family member 2							240	215	224					2																	198498532		2203	4300	6503	SO:0001583	missense	130132					plasma membrane		g.chr2:198498532C>T	AK055136	CCDS2323.1	2q33.1	2008-02-05	2006-09-28	2006-09-28	ENSG00000162944	ENSG00000162944			26402	protein-coding gene	gene with protein product			"chromosome 2 open reading frame 11"	C2orf11			Standard	NM_144629		Approved	FLJ30574, Raftlin-2	uc002uuo.4	Q52LD8	OTTHUMG00000132746	ENST00000295049.4:c.628G>A	2.37:g.198498532C>T	ENSP00000295049:p.Gly210Arg						p.G210R	NM_144629.2	NP_653230.2	Q52LD8	RFTN2_HUMAN			4	1164	-			210					Q14DH4|Q2TA69|Q53QE0|Q53SE1|Q96NM3	Missense_Mutation	SNP	ENST00000295049.4	37	c.628G>A	CCDS2323.1	.	.	.	.	.	.	.	.	.	.	C	19.06	3.754218	0.69648	.	.	ENSG00000162944	ENST00000295049	T	0.32515	1.45	5.27	3.43	0.39272	.	0.330020	0.31188	N	0.008095	T	0.47135	0.1429	L	0.57536	1.79	0.36159	D	0.847976	D	0.89917	1.0	D	0.81914	0.995	T	0.53549	-0.8423	10	0.48119	T	0.1	-16.1262	9.3954	0.38399	0.0:0.7796:0.1438:0.0767	.	210	Q52LD8	RFTN2_HUMAN	R	210	ENSP00000295049:G210R	ENSP00000295049:G210R	G	-	1	0	RFTN2	198206777	0.999000	0.42202	0.048000	0.18961	0.974000	0.67602	3.337000	0.52120	0.683000	0.31428	0.655000	0.94253	GGA		0.413	RFTN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256106.2	NM_144629		5	160	0	0	0	1	0	5	160					T	198498532	C	T	198498532	3	4	429	1	0	0	0	0	1	0	0	0	13259	661	23	2	901	2	RFTN2	2	198498532	Missense_Mutation	SNP	C	TCGA-XJ-A9DI-01A-11D-A377-08	123740684	198498532	44700841	7	20700											
NDST3	9348	broad.mit.edu	37	chr4	118975397	118975397	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ccagtatcacattgaaattgCccctggaaagggagatctcc	12	9	9	11	0	2	2	1	1	1	1	3	4	2	3	4	2	1	1	4	2	3	3			TCGA-XJ-A9DI-01A-11D-A377-08	TCGA-XJ-A9DI-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344706a8-f56a-4d3b-b7f9-97eb0aa3924d	0d12cfa6-26d0-40cd-9278-2fc8f1f81f08	g.chr4:118975397C>T	ENST00000296499.5	+	2	735	c.332C>T	c.(331-333)gCc>gTc	p.A111V	NDST3_ENST00000433996.2_Missense_Mutation_p.A111V	NM_004784.2	NP_004775.1	O95803	NDST3_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 3	111	Heparan sulfate N-deacetylase 3.				heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparin biosynthetic process (GO:0030210)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine N-sulfotransferase activity (GO:0015016)|deacetylase activity (GO:0019213)	p.A111V(1)		NS(1)|breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	54						ATTGAAATTGCCCCTGGAAAG	0.353																																						ENST00000296499.5																			1	Substitution - Missense(1)	p.A111V(1)	large_intestine(1)	NS(1)|breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	54						c.(331-333)gCc>gTc		N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 3							42	43	43					4																	118975397		2203	4298	6501	SO:0001583	missense	9348					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity	g.chr4:118975397C>T	AF074924	CCDS3708.1	4q26	2008-08-04			ENSG00000164100	ENSG00000164100		"Sulfotransferases, membrane-bound"	7682	protein-coding gene	gene with protein product		603950				9915799	Standard	NM_004784		Approved	HSST3	uc003ibx.3	O95803	OTTHUMG00000132959	ENST00000296499.5:c.332C>T	4.37:g.118975397C>T	ENSP00000296499:p.Ala111Val					NDST3_ENST00000433996.2_Missense_Mutation_p.A111V	p.A111V	NM_004784.2	NP_004775.1	O95803	NDST3_HUMAN			2	735	+			111			Heparan sulfate N-deacetylase 3.		B4DI67|Q4W5C1|Q4W5D0|Q6UWC5|Q9UP21	Missense_Mutation	SNP	ENST00000296499.5	37	c.332C>T	CCDS3708.1	.	.	.	.	.	.	.	.	.	.	C	14.14	2.446995	0.43429	.	.	ENSG00000164100	ENST00000296499;ENST00000433996	T;T	0.47177	1.16;0.85	5.53	4.68	0.58851	.	0.049760	0.85682	D	0.000000	T	0.46964	0.1420	L	0.58969	1.84	0.48185	D	0.999607	B;B;B	0.19583	0.001;0.021;0.037	B;B;B	0.30029	0.006;0.11;0.041	T	0.39418	-0.9615	10	0.32370	T	0.25	.	13.7625	0.62975	0.0:0.9264:0.0:0.0736	.	111;111;111	B4DI67;O95803;O95803-2	.;NDST3_HUMAN;.	V	111	ENSP00000296499:A111V;ENSP00000396625:A111V	ENSP00000296499:A111V	A	+	2	0	NDST3	119194845	1.000000	0.71417	1.000000	0.80357	0.831000	0.47069	4.929000	0.63455	2.577000	0.86979	0.650000	0.86243	GCC		0.353	NDST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256517.4	NM_004784		3	58	0	0	0	1	0	3	58					T	118975397	C	T	118975397	3	4	429	1	0	0	0	0	1	0	0	0	10257	739	26	3	334	3	NDST3	4	118975397	Missense_Mutation	SNP	C	TCGA-XJ-A9DI-01A-11D-A377-08		118975397	72178879	8	20701											
DOCK2	1794	broad.mit.edu	37	chr5	169504824	169504824	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tctgactgcagcacccccagCaagcctacctcagagaggtc	10	6	9	16	0	2	2	1	1	1	1	3	3	2	2	4	1	5	3	4	1	2	1			TCGA-XJ-A9DI-01A-11D-A377-08	TCGA-XJ-A9DI-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344706a8-f56a-4d3b-b7f9-97eb0aa3924d	0d12cfa6-26d0-40cd-9278-2fc8f1f81f08	g.chr5:169504824C>A	ENST00000256935.8	+	48	5057	c.4977C>A	c.(4975-4977)agC>agA	p.S1659R	DOCK2_ENST00000523351.1_3'UTR|DOCK2_ENST00000520908.1_Missense_Mutation_p.S1151R|DOCK2_ENST00000540750.1_Missense_Mutation_p.S720R	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	1659					actin cytoskeleton organization (GO:0030036)|alpha-beta T cell proliferation (GO:0046633)|chemotaxis (GO:0006935)|establishment of T cell polarity (GO:0001768)|immunological synapse formation (GO:0001771)|macropinocytosis (GO:0044351)|membrane raft polarization (GO:0001766)|myeloid dendritic cell activation involved in immune response (GO:0002277)|negative thymic T cell selection (GO:0045060)|positive regulation of phagocytosis (GO:0050766)|positive thymic T cell selection (GO:0045059)|regulation of defense response to virus by virus (GO:0050690)|small GTPase mediated signal transduction (GO:0007264)|viral process (GO:0016032)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rac GTPase activator activity (GO:0030675)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|T cell receptor binding (GO:0042608)			NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GCACCCCCAGCAAGCCTACCT	0.602																																						ENST00000256935.8																			0				NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160						c.(4975-4977)agC>agA		dedicator of cytokinesis 2							97	87	90					5																	169504824		2203	4300	6503	SO:0001583	missense	1794				actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding	g.chr5:169504824C>A	BC016996	CCDS4371.1	5q35.1	2008-02-05			ENSG00000134516	ENSG00000134516			2988	protein-coding gene	gene with protein product		603122	"dedicator of cyto-kinesis 2"				Standard	NM_004946		Approved	KIAA0209	uc003maf.3	Q92608	OTTHUMG00000130437	ENST00000256935.8:c.4977C>A	5.37:g.169504824C>A	ENSP00000256935:p.Ser1659Arg					DOCK2_ENST00000520908.1_Missense_Mutation_p.S1151R|DOCK2_ENST00000523351.1_3'UTR|DOCK2_ENST00000540750.1_Missense_Mutation_p.S720R	p.S1659R	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		48	5057	+	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	1659					Q2M3I0|Q96AK7	Missense_Mutation	SNP	ENST00000256935.8	37	c.4977C>A	CCDS4371.1	.	.	.	.	.	.	.	.	.	.	C	14.52	2.560169	0.45590	.	.	ENSG00000134516	ENST00000256935;ENST00000520908;ENST00000540750	T;T;T	0.09817	3.57;3.23;2.94	5.08	5.08	0.68730	.	0.417781	0.28521	N	0.015049	T	0.08358	0.0208	N	0.24115	0.695	0.41678	D	0.989274	B;B;B	0.09022	0.0;0.002;0.0	B;B;B	0.08055	0.001;0.003;0.0	T	0.11767	-1.0574	10	0.56958	D	0.05	.	10.908	0.47092	0.0:0.9125:0.0:0.0875	.	1151;215;1659	E7ERW7;B3KY14;Q92608	.;.;DOCK2_HUMAN	R	1659;1151;720	ENSP00000256935:S1659R;ENSP00000429283:S1151R;ENSP00000438827:S720R	ENSP00000256935:S1659R	S	+	3	2	DOCK2	169437402	1.000000	0.71417	1.000000	0.80357	0.872000	0.50106	3.740000	0.55082	2.387000	0.81309	0.558000	0.71614	AGC		0.602	DOCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252828.2	NM_004946		3	29	1	0	1	1	1	3	29					A	169504824	C	A	169504824	3	1	429	1	0	0	0	0	1	0	0	0	4687	709	25	5	5167	5	DOCK2	5	169504824	Missense_Mutation	SNP	C	TCGA-XJ-A9DI-01A-11D-A377-08		169504824	11410436	9	20702											
PTCRA	171558	broad.mit.edu	37	chr6	42893146	42893146	+	Frame_Shift_Del	DEL	T	T	-																															caccacccgcctgcgagcccTcggctcccatcgactgcacc																										TCGA-XJ-A9DI-01A-11D-A377-08	TCGA-XJ-A9DI-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344706a8-f56a-4d3b-b7f9-97eb0aa3924d	0d12cfa6-26d0-40cd-9278-2fc8f1f81f08	g.chr6:42893146delT	ENST00000304672.1	+	4	653	c.572delT	c.(571-573)ctcfs	p.L191fs	PTCRA_ENST00000446507.1_Frame_Shift_Del_p.L84fs|PTCRA_ENST00000441198.1_Frame_Shift_Del_p.L166fs	NM_001243168.1|NM_138296.2	NP_001230097.1|NP_612153.2	Q6ISU1	PTCRA_HUMAN	pre T-cell antigen receptor alpha	191					negative regulation of thymocyte apoptotic process (GO:0070244)	integral component of membrane (GO:0016021)				large_intestine(2)|lung(4)|ovary(2)	8	Colorectal(47;0.196)		all cancers(41;0.000731)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|OV - Ovarian serous cystadenocarcinoma(102;0.0218)|Kidney(15;0.0388)			CTGCGAGCCCTCGGCTCCCAT	0.711																																						ENST00000304672.1																			0				large_intestine(2)|lung(4)|ovary(2)	8						c.(571-573)ccfs		pre T-cell antigen receptor alpha							10	8	9					6																	42893146		2100	4068	6168	SO:0001589	frameshift_variant	171558					integral to membrane	receptor activity	g.chr6:42893146delT	AF084941	CCDS4874.1, CCDS59019.1, CCDS59020.1, CCDS75457.1	6p21.3	2008-02-05			ENSG00000171611	ENSG00000171611			21290	protein-coding gene	gene with protein product		606817				8618853, 9842925	Standard	NM_138296		Approved	PTA, PT-ALPHA	uc021yzp.1	Q6ISU1	OTTHUMG00000014709	ENST00000304672.1:c.572delT	6.37:g.42893146delT	ENSP00000304447:p.Leu191fs					PTCRA_ENST00000441198.1_Frame_Shift_Del_p.L166fs|PTCRA_ENST00000446507.1_Frame_Shift_Del_p.L84fs	p.L191fs	NM_001243168.1|NM_138296.2	NP_001230097.1|NP_612153.2	Q6ISU1	PTCRA_HUMAN	all cancers(41;0.000731)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|OV - Ovarian serous cystadenocarcinoma(102;0.0218)|Kidney(15;0.0388)		4	653	+	Colorectal(47;0.196)		191					Q5TFZ7	Frame_Shift_Del	DEL	ENST00000304672.1	37	c.572delT	CCDS4874.1																																																																																				0.711	PTCRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040565.2	NM_138296		2	4						2	4	---	---	---	---	-	42893146	T	-	42893146	7	5	429	1	0	1	0	1	0	0	0	0	12735	1551	54	0	586	0	PTCRA	6	42893146	Frame_Shift_Del	DEL	T	TCGA-XJ-A9DI-01A-11D-A377-08		42893146	128221921	10	20703											
BCLAF1	9774	broad.mit.edu	37	chr6	136599066	136599066	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	catcaggataaaacgaggaaCggcccctagactcatctctt	13	8	8	12	2	3	1	2	0	1	1	4	4	3	3	2	3	2	0	2	3	4	3	rs373341748		TCGA-XJ-A9DI-01A-11D-A377-08	TCGA-XJ-A9DI-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344706a8-f56a-4d3b-b7f9-97eb0aa3924d	0d12cfa6-26d0-40cd-9278-2fc8f1f81f08	g.chr6:136599066C>T	ENST00000531224.1	-	4	1205	c.953G>A	c.(952-954)cGt>cAt	p.R318H	BCLAF1_ENST00000527536.1_Missense_Mutation_p.R318H|BCLAF1_ENST00000353331.4_Missense_Mutation_p.R316H|BCLAF1_ENST00000530767.1_Missense_Mutation_p.R318H|BCLAF1_ENST00000392348.2_Missense_Mutation_p.R316H|BCLAF1_ENST00000527759.1_Missense_Mutation_p.R316H	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1	318					apoptotic process (GO:0006915)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA-templated transcription, initiation (GO:2000144)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of response to DNA damage stimulus (GO:2001022)|regulation of DNA-templated transcription in response to stress (GO:0043620)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		AAACGAGGAACGGCCCCTAGA	0.408																																					Colon(142;1534 1789 5427 7063 28491)	ENST00000531224.1																			0				haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9						c.(952-954)cGt>cAt		BCL2-associated transcription factor 1		C	HIS/ARG,HIS/ARG,HIS/ARG	0,4404		0,0,2202	93	93	93		953,953,947	5.5	1	6		93	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	BCLAF1	NM_014739.2,NM_001077441.1,NM_001077440.1	29,29,29	0,1,6501	TT,TC,CC		0.0116,0.0,0.0077	benign,benign,benign	318/921,318/748,316/870	136599066	1,13003	2202	4300	6502	SO:0001583	missense	9774				induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding	g.chr6:136599066C>T	AF249273	CCDS5177.1, CCDS47485.1, CCDS47486.1, CCDS75525.1	6q22-q23	2007-03-02			ENSG00000029363	ENSG00000029363			16863	protein-coding gene	gene with protein product		612588				8724849, 10330179	Standard	NM_001077440		Approved	KIAA0164, BTF	uc003qgx.1	Q9NYF8	OTTHUMG00000033323	ENST00000531224.1:c.953G>A	6.37:g.136599066C>T	ENSP00000435210:p.Arg318His					BCLAF1_ENST00000527536.1_Missense_Mutation_p.R318H|BCLAF1_ENST00000530767.1_Missense_Mutation_p.R318H|BCLAF1_ENST00000353331.4_Missense_Mutation_p.R316H|BCLAF1_ENST00000392348.2_Missense_Mutation_p.R316H|BCLAF1_ENST00000527759.1_Missense_Mutation_p.R316H	p.R318H	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN		GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)	4	1205	-	Colorectal(23;0.24)		318					A2RU75|B7ZM58|E1P586|Q14673|Q86WU6|Q86WY0	Missense_Mutation	SNP	ENST00000531224.1	37	c.953G>A	CCDS5177.1	.	.	.	.	.	.	.	.	.	.	C	13.80	2.345284	0.41498	0.0	1.16E-4	ENSG00000029363	ENST00000531224;ENST00000353331;ENST00000527536;ENST00000530767;ENST00000527759;ENST00000392348;ENST00000529826	T;T;T;T;T;T;T	0.18810	2.19;2.19;2.19;2.19;2.19;2.19;2.19	5.52	5.52	0.82312	.	0.000000	0.64402	D	0.000002	T	0.04998	0.0134	N	0.14661	0.345	0.80722	D	1	B;B;B;B	0.24882	0.059;0.113;0.059;0.059	B;B;B;B	0.19391	0.008;0.025;0.008;0.008	T	0.27905	-1.0060	10	0.13108	T	0.6	-2.9258	13.0779	0.59097	0.0:0.9262:0.0:0.0738	.	316;316;318;318	Q9NYF8-2;Q9NYF8-3;Q9NYF8;Q9NYF8-4	.;.;BCLF1_HUMAN;.	H	318;316;318;318;316;316;318	ENSP00000435210:R318H;ENSP00000229446:R316H;ENSP00000435441:R318H;ENSP00000436501:R318H;ENSP00000434826:R316H;ENSP00000376159:R316H;ENSP00000431734:R318H	ENSP00000229446:R316H	R	-	2	0	BCLAF1	136640759	1.000000	0.71417	1.000000	0.80357	0.741000	0.42261	3.665000	0.54532	2.754000	0.94517	0.650000	0.86243	CGT		0.408	BCLAF1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042375.2	NM_014739		4	159	0	0	0	1	0	4	159					T	136599066	C	T	136599066	3	4	429	1	0	0	0	0	1	0	0	0	1383	536	19	1	1849	1	BCLAF1	6	136599066	Missense_Mutation	SNP	C	TCGA-XJ-A9DI-01A-11D-A377-08	93705920	136599066	34516001	11	20704											
TNS3	64759	broad.mit.edu	37	chr7	47408548	47408548	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	actgagggctttctcagcagGggctggggctgcttgggctc	4	10	17	10	0	1	1	1	1	1	0	3	1	1	1	0	6	2	6	0	6	0	2			TCGA-XJ-A9DI-01A-11D-A377-08	TCGA-XJ-A9DI-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344706a8-f56a-4d3b-b7f9-97eb0aa3924d	0d12cfa6-26d0-40cd-9278-2fc8f1f81f08	g.chr7:47408548G>A	ENST00000398879.1	-	17	2061	c.1695C>T	c.(1693-1695)ccC>ccT	p.P565P	TNS3_ENST00000311160.9_Silent_p.P565P|TNS3_ENST00000355730.3_Silent_p.P325P			Q68CZ2	TENS3_HUMAN	tensin 3	565					cell migration (GO:0016477)|lung alveolus development (GO:0048286)|positive regulation of cell proliferation (GO:0008284)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)				NS(1)|autonomic_ganglia(1)|breast(17)|endometrium(5)|kidney(4)|large_intestine(7)|liver(1)|lung(16)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	64						TTCTCAGCAGGGGCTGGGGCT	0.647																																						ENST00000398879.1																			0				NS(1)|autonomic_ganglia(1)|breast(17)|endometrium(5)|kidney(4)|large_intestine(7)|liver(1)|lung(16)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	64						c.(1693-1695)ccC>ccT		tensin 3							40	44	43					7																	47408548		2057	4201	6258	SO:0001819	synonymous_variant	64759					focal adhesion	protein binding	g.chr7:47408548G>A	AF378756	CCDS5506.2	7p12.3	2013-02-14	2005-05-13	2005-05-13	ENSG00000136205	ENSG00000136205		"SH2 domain containing"	21616	protein-coding gene	gene with protein product	"tumor endothelial marker 6"	606825	"tensin-like SH2 domain-containing 1"	TENS1		11559528	Standard	NM_022748		Approved	TEM6, H_NH0549I23.2, FLJ13732	uc003tnw.3	Q68CZ2	OTTHUMG00000074075	ENST00000398879.1:c.1695C>T	7.37:g.47408548G>A						TNS3_ENST00000355730.3_Silent_p.P325P|TNS3_ENST00000311160.9_Silent_p.P565P	p.P565P			Q68CZ2	TENS3_HUMAN			17	2061	-			565					B2RNV1|Q6IPQ2|Q8IZW7|Q8NAD0|Q96PE0|Q96S48	Silent	SNP	ENST00000398879.1	37	c.1695C>T	CCDS5506.2																																																																																				0.647	TNS3-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157253.1	NM_022748		5	75	0	0	0	1	0	5	75					A	47408548	G	A	47408548	2	1	429	1	0	0	0	0	0	0	0	1	16341	1219	43	3		3	TNS3	7	47408548	Silent	SNP	G	TCGA-XJ-A9DI-01A-11D-A377-08		47408548	111730115	12	20705											
HSPB1	3315	broad.mit.edu	37	chr7	75933153	75933153	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cggcaggacgagcatggctaCatctcccggtgcttcacgcg	7	7	13	14	5	2	0	1	0	1	0	3	2	2	1	1	4	3	4	1	4	1	2	rs140791936	byFrequency	TCGA-XJ-A9DI-01A-11D-A377-08	TCGA-XJ-A9DI-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344706a8-f56a-4d3b-b7f9-97eb0aa3924d	0d12cfa6-26d0-40cd-9278-2fc8f1f81f08	g.chr7:75933153C>T	ENST00000248553.6	+	2	568	c.399C>T	c.(397-399)taC>taT	p.Y133Y	HSPB1_ENST00000429938.1_5'UTR	NM_001540.3	NP_001531.1	P04792	HSPB1_HUMAN	heat shock 27kDa protein 1	133	Interaction with TGFB1I1. {ECO:0000250}.				cell death (GO:0008219)|cellular component movement (GO:0006928)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|gene expression (GO:0010467)|intracellular signal transduction (GO:0035556)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|negative regulation of protein kinase activity (GO:0006469)|platelet aggregation (GO:0070527)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell chemotaxis by VEGF-activated vascular endothelial growth factor receptor signaling pathway (GO:0038033)|positive regulation of interleukin-1 beta production (GO:0032731)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of translational initiation (GO:0006446)|response to unfolded protein (GO:0006986)|response to virus (GO:0009615)|retina homeostasis (GO:0001895)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|proteasome complex (GO:0000502)|Z disc (GO:0030018)	identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|protein kinase C binding (GO:0005080)|protein kinase C inhibitor activity (GO:0008426)|ubiquitin binding (GO:0043130)			large_intestine(1)|lung(3)	4						AGCATGGCTACATCTCCCGGT	0.667													C|||	3	0.000599042	0	0	5008	,	,		12012	0.003		0	False		,,,				2504	0					ENST00000248553.6																			0				large_intestine(1)|lung(3)	4						c.(397-399)taC>taT		heat shock 27kDa protein 1							40	39	39					7																	75933153		2203	4299	6502	SO:0001819	synonymous_variant	3315				anti-apoptosis|cell death|cellular component movement|mRNA metabolic process|positive regulation of interleukin-1 beta production|positive regulation of tumor necrosis factor biosynthetic process|regulation of I-kappaB kinase/NF-kappaB cascade|regulation of translational initiation|response to heat|response to unfolded protein|response to virus	cell surface|cytosol|nucleus|proteasome complex|spindle	identical protein binding|protein kinase C delta binding|protein kinase C inhibitor activity|ubiquitin binding	g.chr7:75933153C>T	X54079	CCDS5583.1	7q11.23	2014-09-17	2002-08-29		ENSG00000106211	ENSG00000106211		"Heat shock proteins / HSPB"	5246	protein-coding gene	gene with protein product		602195	"heat shock 27kD protein 1"			2243808, 9344682	Standard	NM_001540		Approved	HSP27, HSP28, Hs.76067, Hsp25	uc003uew.3	P04792	OTTHUMG00000023228	ENST00000248553.6:c.399C>T	7.37:g.75933153C>T						HSPB1_ENST00000429938.1_5'UTR	p.Y133Y	NM_001540.3	NP_001531.1	P04792	HSPB1_HUMAN			2	568	+			133			Interaction with TGFB1I1 (By similarity).		B2R4N8|Q6FI47|Q96C20|Q96EI7|Q9UC31|Q9UC34|Q9UC35|Q9UC36	Silent	SNP	ENST00000248553.6	37	c.399C>T	CCDS5583.1																																																																																				0.667	HSPB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252958.1			4	71	0	0	0	1	0	4	71					T	75933153	C	T	75933153	2	4	429	1	0	0	0	0	0	0	0	1	7418	489	17	3		3	HSPB1	7	75933153	Silent	SNP	C	TCGA-XJ-A9DI-01A-11D-A377-08	28524605	75933153	83205510	13	20706											
PIK3CG	5294	broad.mit.edu	37	chr7	106509421	106509421	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cctgctgctgatagaccaccGtttcctcctgcgccgtggag	5	10	11	15	3	0	2	0	1	0	1	2	3	2	3	6	1	3	3	6	1	1	2			TCGA-XJ-A9DI-01A-11D-A377-08	TCGA-XJ-A9DI-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344706a8-f56a-4d3b-b7f9-97eb0aa3924d	0d12cfa6-26d0-40cd-9278-2fc8f1f81f08	g.chr7:106509421G>A	ENST00000359195.3	+	2	1725	c.1415G>A	c.(1414-1416)cGt>cAt	p.R472H	PIK3CG_ENST00000440650.2_Missense_Mutation_p.R472H|PIK3CG_ENST00000496166.1_Missense_Mutation_p.R472H	NM_001282427.1|NM_002649.2	NP_001269356.1|NP_002640.2	P48736	PK3CG_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma	472	C2 PI3K-type. {ECO:0000255|PROSITE- ProRule:PRU00880}.				adaptive immune response (GO:0002250)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cytokine production (GO:0001816)|dendritic cell chemotaxis (GO:0002407)|endocytosis (GO:0006897)|G-protein coupled receptor signaling pathway (GO:0007186)|hepatocyte apoptotic process (GO:0097284)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|mast cell degranulation (GO:0043303)|natural killer cell chemotaxis (GO:0035747)|negative regulation of cardiac muscle contraction (GO:0055118)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of triglyceride catabolic process (GO:0010897)|neutrophil chemotaxis (GO:0030593)|neutrophil extravasation (GO:0072672)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of cell adhesion mediated by integrin (GO:0033628)|respiratory burst involved in defense response (GO:0002679)|secretory granule localization (GO:0032252)|small molecule metabolic process (GO:0044281)|T cell activation (GO:0042110)|T cell chemotaxis (GO:0010818)|T cell proliferation (GO:0042098)	1-phosphatidylinositol-4-phosphate 3-kinase, class IB complex (GO:0005944)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|mast cell granule (GO:0042629)|membrane (GO:0016020)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|ephrin receptor binding (GO:0046875)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						ATAGACCACCGTTTCCTCCTG	0.532																																						ENST00000359195.3																			0				breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						c.(1414-1416)cGt>cAt		phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma							115	109	111					7																	106509421		2203	4300	6503	SO:0001583	missense	5294				G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding	g.chr7:106509421G>A		CCDS5739.1	7q22	2012-07-13	2012-07-13		ENSG00000105851	ENSG00000105851	2.7.1.153		8978	protein-coding gene	gene with protein product		601232	"phosphoinositide-3-kinase, catalytic, gamma polypeptide"				Standard	XM_005250443		Approved		uc003vdw.3	P48736	OTTHUMG00000157641	ENST00000359195.3:c.1415G>A	7.37:g.106509421G>A	ENSP00000352121:p.Arg472His					PIK3CG_ENST00000496166.1_Missense_Mutation_p.R472H|PIK3CG_ENST00000440650.2_Missense_Mutation_p.R472H	p.R472H	NM_002649.2	NP_002640.2	P48736	PK3CG_HUMAN			2	1725	+			472					A4D0Q6|Q8IV23|Q9BZC8	Missense_Mutation	SNP	ENST00000359195.3	37	c.1415G>A	CCDS5739.1	.	.	.	.	.	.	.	.	.	.	G	24.4	4.522629	0.85600	.	.	ENSG00000105851	ENST00000440650;ENST00000496166;ENST00000359195	T;T;T	0.78707	-1.2;-1.2;-1.2	6.02	6.02	0.97574	C2 calcium/lipid-binding domain, CaLB (1);Phosphoinositide 3-kinase, C2 (1);	0.000000	0.49916	D	0.000138	D	0.83594	0.5288	L	0.56769	1.78	0.80722	D	1	P	0.48503	0.911	P	0.52514	0.701	T	0.82924	-0.0216	10	0.54805	T	0.06	-27.1758	20.5407	0.99260	0.0:0.0:1.0:0.0	.	472	P48736	PK3CG_HUMAN	H	472	ENSP00000392258:R472H;ENSP00000419260:R472H;ENSP00000352121:R472H	ENSP00000352121:R472H	R	+	2	0	PIK3CG	106296657	1.000000	0.71417	0.971000	0.41717	0.996000	0.88848	9.807000	0.99171	2.865000	0.98341	0.655000	0.94253	CGT		0.532	PIK3CG-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349294.1			6	87	0	0	0	1	0	6	87					A	106509421	G	A	106509421	3	1	429	1	0	0	0	0	1	0	0	0	11916	1145	40	1	1417	1	PIK3CG	7	106509421	Missense_Mutation	SNP	G	TCGA-XJ-A9DI-01A-11D-A377-08	30576268	106509421	52629242	14	20707											
MFHAS1	9258	broad.mit.edu	37	chr8	8748158	8748158	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	catgaggcttaagcagcaacCgaatgacatgagctggcaag	14	6	12	9	1	0	3	0	3	0	0	0	4	0	3	1	2	4	5	1	2	4	1			TCGA-XJ-A9DI-01A-11D-A377-08	TCGA-XJ-A9DI-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344706a8-f56a-4d3b-b7f9-97eb0aa3924d	0d12cfa6-26d0-40cd-9278-2fc8f1f81f08	g.chr8:8748158C>T	ENST00000276282.6	-	1	2997	c.2411G>A	c.(2410-2412)cGg>cAg	p.R804Q		NM_004225.2	NP_004216.2	Q9Y4C4	MFHA1_HUMAN	malignant fibrous histiocytoma amplified sequence 1	804										endometrium(1)|kidney(3)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|stomach(1)	21		Hepatocellular(245;0.217)		COAD - Colon adenocarcinoma(149;0.124)		AAGCAGCAACCGAATGACATG	0.582																																					Melanoma(103;1201 2045 17515 28966)	ENST00000276282.6																			0				endometrium(1)|kidney(3)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|stomach(1)	21						c.(2410-2412)cGg>cAg		malignant fibrous histiocytoma amplified sequence 1							67	66	67					8																	8748158		2203	4300	6503	SO:0001583	missense	9258							g.chr8:8748158C>T	AB016816	CCDS34844.1	8p23.1	2014-03-07			ENSG00000147324	ENSG00000147324			16982	protein-coding gene	gene with protein product	"leucine rich repeat containing 65", "malignant fibrous histiocytoma-amplified sequences with leucine-rich tandem repeats 1"	605352				9973190	Standard	NM_004225		Approved	MASL1, LRRC65	uc003wsj.1	Q9Y4C4	OTTHUMG00000163676	ENST00000276282.6:c.2411G>A	8.37:g.8748158C>T	ENSP00000276282:p.Arg804Gln						p.R804Q	NM_004225.2	NP_004216.2	Q9Y4C4	MFHA1_HUMAN		COAD - Colon adenocarcinoma(149;0.124)	1	2997	-		Hepatocellular(245;0.217)	804					Q96CI0	Missense_Mutation	SNP	ENST00000276282.6	37	c.2411G>A	CCDS34844.1	.	.	.	.	.	.	.	.	.	.	C	19.20	3.780870	0.70222	.	.	ENSG00000147324	ENST00000276282	T	0.36157	1.27	5.14	5.14	0.70334	.	0.151751	0.42420	N	0.000714	T	0.48187	0.1486	L	0.51422	1.61	0.58432	D	0.999997	D	0.76494	0.999	P	0.55545	0.778	T	0.28299	-1.0048	10	0.33940	T	0.23	.	17.7729	0.88499	0.0:1.0:0.0:0.0	.	804	Q9Y4C4	MFHA1_HUMAN	Q	804	ENSP00000276282:R804Q	ENSP00000276282:R804Q	R	-	2	0	MFHAS1	8785568	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	5.598000	0.67585	2.679000	0.91253	0.655000	0.94253	CGG		0.582	MFHAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374724.2	NM_004225		5	51	0	0	0	1	0	5	51					T	8748158	C	T	8748158	3	4	429	1	0	0	0	0	1	0	0	0	9521	652	23	2	759	2	MFHAS1	8	8748158	Missense_Mutation	SNP	C	TCGA-XJ-A9DI-01A-11D-A377-08		8748158	137615864	15	20708											
CYP7A1	1581	broad.mit.edu	37	chr8	59412637	59412637	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gctgctatagcaatcccccaAatcaaagatgtggtcatcat	13	10	7	11	0	3	1	3	0	0	1	4	1	4	1	2	1	2	3	2	1	5	2			TCGA-XJ-A9DI-01A-11D-A377-08	TCGA-XJ-A9DI-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344706a8-f56a-4d3b-b7f9-97eb0aa3924d	0d12cfa6-26d0-40cd-9278-2fc8f1f81f08	g.chr8:59412637A>T	ENST00000301645.3	-	1	158	c.21T>A	c.(19-21)atT>atA	p.I7I		NM_000780.3	NP_000771.2	P22680	CP7A1_HUMAN	cytochrome P450, family 7, subfamily A, polypeptide 1	7					bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cellular lipid metabolic process (GO:0044255)|cellular response to cholesterol (GO:0071397)|cellular response to glucose stimulus (GO:0071333)|cholesterol catabolic process (GO:0006707)|cholesterol homeostasis (GO:0042632)|regulation of bile acid biosynthetic process (GO:0070857)|small molecule metabolic process (GO:0044281)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)	cholesterol 7-alpha-monooxygenase activity (GO:0008123)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			breast(4)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(1)|urinary_tract(1)	34		all_lung(136;0.0271)|Lung NSC(129;0.0351)|all_epithelial(80;0.0554)				CAATCCCCCAAATCAAAGATG	0.378									Neonatal Giant Cell Hepatitis																													ENST00000301645.3																			0				breast(4)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(1)|urinary_tract(1)	34						c.(19-21)atT>atA		cytochrome P450, family 7, subfamily A, polypeptide 1							120	119	119					8																	59412637		2203	4300	6503	SO:0001819	synonymous_variant	1581	Neonatal Giant Cell Hepatitis	Familial Cancer Database	Neonatal Hemochromatosis	bile acid biosynthetic process|cellular lipid metabolic process|cellular response to cholesterol|cellular response to glucose stimulus|cholesterol catabolic process|cholesterol homeostasis|regulation of bile acid biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	cholesterol 7-alpha-monooxygenase activity|electron carrier activity|heme binding	g.chr8:59412637A>T	M89803	CCDS6171.1	8q11-q12	2010-05-04	2003-01-14		ENSG00000167910	ENSG00000167910	1.14.13.17	"Cytochrome P450s"	2651	protein-coding gene	gene with protein product	"cholesterol 7 alpha-monooxygenase"	118455	"cytochrome P450, subfamily VIIA (cholesterol 7 alpha-monooxygenase), polypeptide 1"	CYP7		1358792	Standard	NM_000780		Approved		uc003xtm.4	P22680	OTTHUMG00000164301	ENST00000301645.3:c.21T>A	8.37:g.59412637A>T							p.I7I	NM_000780.3	NP_000771.2	P22680	CP7A1_HUMAN			1	158	-		all_lung(136;0.0271)|Lung NSC(129;0.0351)|all_epithelial(80;0.0554)	7					P78454|Q3MIL8|Q7KZ19	Silent	SNP	ENST00000301645.3	37	c.21T>A	CCDS6171.1																																																																																				0.378	CYP7A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378190.1	NM_000780		7	104	0	0	0	1	0	7	104					T	59412637	A	T	59412637	2	4	429	1	0	0	0	0	0	0	0	1	4196	10	1	5		5	CYP7A1	8	59412637	Silent	SNP	A	TCGA-XJ-A9DI-01A-11D-A377-08	50664479	59412637	86951385	16	20709											
CHD7	55636	broad.mit.edu	37	chr8	61655594	61655594	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cacctccacaccctcatcacCagccttgggcacagctccac	9	6	5	21	0	2	0	2	0	0	0	4	0	4	0	6	1	2	2	6	1	0	1			TCGA-XJ-A9DI-01A-11D-A377-08	TCGA-XJ-A9DI-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344706a8-f56a-4d3b-b7f9-97eb0aa3924d	0d12cfa6-26d0-40cd-9278-2fc8f1f81f08	g.chr8:61655594C>T	ENST00000423902.2	+	2	2082	c.1603C>T	c.(1603-1605)Cag>Tag	p.Q535*	CHD7_ENST00000524602.1_Nonsense_Mutation_p.Q535*|CHD7_ENST00000525508.1_Nonsense_Mutation_p.Q535*	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	535	Pro-rich.				adult heart development (GO:0007512)|adult walking behavior (GO:0007628)|artery morphogenesis (GO:0048844)|blood circulation (GO:0008015)|central nervous system development (GO:0007417)|chromatin modification (GO:0016568)|cognition (GO:0050890)|cranial nerve development (GO:0021545)|embryonic hindlimb morphogenesis (GO:0035116)|epithelium development (GO:0060429)|face development (GO:0060324)|female genitalia development (GO:0030540)|genitalia development (GO:0048806)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|inner ear morphogenesis (GO:0042472)|limb development (GO:0060173)|nose development (GO:0043584)|olfactory behavior (GO:0042048)|olfactory bulb development (GO:0021772)|olfactory nerve development (GO:0021553)|palate development (GO:0060021)|positive regulation of multicellular organism growth (GO:0040018)|regulation of growth hormone secretion (GO:0060123)|regulation of neurogenesis (GO:0050767)|regulation of transcription, DNA-templated (GO:0006355)|retina development in camera-type eye (GO:0060041)|rRNA processing (GO:0006364)|semicircular canal morphogenesis (GO:0048752)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|T cell differentiation (GO:0030217)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			CCCTCATCACCAGCCTTGGGC	0.587																																						ENST00000423902.2																			0				NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123						c.(1603-1605)Cag>Tag		chromodomain helicase DNA binding protein 7							81	94	90					8																	61655594		2129	4236	6365	SO:0001587	stop_gained	55636				central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent	nucleus	ATP binding|chromatin binding|DNA binding|helicase activity	g.chr8:61655594C>T	AB037837	CCDS47865.1	8q12.2	2014-09-17				ENSG00000171316			20626	protein-coding gene	gene with protein product		608892	"CHARGE association"	CRG		15300250, 18834967	Standard	NM_017780		Approved	KIAA1416, FLJ20357, FLJ20361	uc003xue.3	Q9P2D1		ENST00000423902.2:c.1603C>T	8.37:g.61655594C>T	ENSP00000392028:p.Gln535*					CHD7_ENST00000525508.1_Nonsense_Mutation_p.Q535*|CHD7_ENST00000524602.1_Nonsense_Mutation_p.Q535*	p.Q535*	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.143)		2	2082	+		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	535			Pro-rich.		D0VBA5|E9PNZ2|Q05DI5|Q2TAN4|Q66K35|Q7Z6C0|Q7Z7Q2|Q9NXA0|Q9NXA3	Nonsense_Mutation	SNP	ENST00000423902.2	37	c.1603C>T	CCDS47865.1	.	.	.	.	.	.	.	.	.	.	C	46	12.656384	0.99686	.	.	ENSG00000171316	ENST00000307121;ENST00000423902;ENST00000524602;ENST00000525508	.	.	.	5.67	5.67	0.87782	.	0.000000	0.38326	N	0.001737	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-3.1617	19.7706	0.96363	0.0:1.0:0.0:0.0	.	.	.	.	X	535	.	ENSP00000307304:Q535X	Q	+	1	0	CHD7	61818148	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.351000	0.73022	2.697000	0.92050	0.655000	0.94253	CAG		0.587	CHD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383468.2	XM_098762		6	24	0	0	0	1	0	6	24					T	61655594	C	T	61655594	4	4	429	1	0	0	0	0	0	1	0	0	3330	595	21	3	1605	3	CHD7	8	61655594	Nonsense_Mutation	SNP	C	TCGA-XJ-A9DI-01A-11D-A377-08	2242957	61655594	84708428	17	20710											
PREX2	80243	broad.mit.edu	37	chr8	68992720	68992720	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agatgaacccctacttttccGttttttttcggatgaggaaa	10	15	8	8	2	0	3	0	2	0	1	2	5	1	5	3	2	2	1	3	2	3	7	rs182978151		TCGA-XJ-A9DI-01A-11D-A377-08	TCGA-XJ-A9DI-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344706a8-f56a-4d3b-b7f9-97eb0aa3924d	0d12cfa6-26d0-40cd-9278-2fc8f1f81f08	g.chr8:68992720G>A	ENST00000288368.4	+	16	1962	c.1685G>A	c.(1684-1686)cGt>cAt	p.R562H	RP11-403D15.2_ENST00000526901.1_RNA|PREX2_ENST00000529398.1_3'UTR	NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2	562	DEP 2. {ECO:0000255|PROSITE- ProRule:PRU00066}.				adult locomotory behavior (GO:0008344)|dendrite morphogenesis (GO:0048813)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|positive regulation of Rac GTPase activity (GO:0032855)		Rac GTPase activator activity (GO:0030675)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)			NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						CTACTTTTCCGTTTTTTTTCG	0.328																																						ENST00000288368.4																			0				NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						c.(1684-1686)cGt>cAt		phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2							87	87	87					8																	68992720		2203	4300	6503	SO:0001583	missense	80243				G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity	g.chr8:68992720G>A	AK024079	CCDS6201.1	8q13.1	2014-06-13	2008-09-15	2008-09-15	ENSG00000046889	ENSG00000046889		"Rho guanine nucleotide exchange factors"	22950	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 129"	612139	"DEP domain containing 2"	DEPDC2		15304342, 15304343	Standard	NM_024870		Approved	DEP.2, FLJ12987, P-REX2, PPP1R129	uc003xxv.1	Q70Z35	OTTHUMG00000164402	ENST00000288368.4:c.1685G>A	8.37:g.68992720G>A	ENSP00000288368:p.Arg562His					PREX2_ENST00000529398.1_3'UTR	p.R562H	NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN			16	1962	+			562			DEP 2.		B4DFX0|Q32KL0|Q32KL1|Q6R7Q3|Q6R7Q4|Q9H805|Q9H961	Missense_Mutation	SNP	ENST00000288368.4	37	c.1685G>A	CCDS6201.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	33	5.218974	0.95104	.	.	ENSG00000046889	ENST00000288368;ENST00000396539;ENST00000354677	T	0.27402	1.67	5.59	5.59	0.84812	DEP domain (3);Winged helix-turn-helix transcription repressor DNA-binding (1);	0.059455	0.64402	D	0.000002	T	0.63710	0.2534	M	0.87328	2.875	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.79784	0.992;0.993;0.983	T	0.69566	-0.5111	10	0.87932	D	0	.	19.5815	0.95469	0.0:0.0:1.0:0.0	.	562;562;562	Q70Z35-2;Q70Z35;Q70Z35-3	.;PREX2_HUMAN;.	H	562	ENSP00000288368:R562H	ENSP00000288368:R562H	R	+	2	0	PREX2	69155274	1.000000	0.71417	0.986000	0.45419	0.951000	0.60555	9.429000	0.97481	2.626000	0.88956	0.650000	0.86243	CGT		0.328	PREX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378620.1	NM_025170		3	41	0	0	0	1	0	3	41					A	68992720	G	A	68992720	3	1	429	1	0	0	0	0	1	0	0	0	12477	1145	40	1	1747	1	PREX2	8	68992720	Missense_Mutation	SNP	G	TCGA-XJ-A9DI-01A-11D-A377-08	7337126	68992720	77371302	18	20711											
C10orf28	27291	broad.mit.edu	37	chr10	99968462	99968462	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catgaacctgatggggaagcAtttgaagacaaagatttgga	15	9	12	5	0	0	5	0	3	0	2	0	7	0	7	1	3	2	1	1	3	4	2			TCGA-XJ-A9DI-01A-11D-A377-08	TCGA-XJ-A9DI-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344706a8-f56a-4d3b-b7f9-97eb0aa3924d	0d12cfa6-26d0-40cd-9278-2fc8f1f81f08	g.chr10:99968462A>G	ENST00000298999.3	+	5	894	c.591A>G	c.(589-591)gcA>gcG	p.A197A	R3HCC1L_ENST00000370586.2_Intron|R3HCC1L_ENST00000314594.5_5'UTR|R3HCC1L_ENST00000370584.3_Silent_p.A197A	NM_014472.4	NP_055287	Q7Z5L2	R3HCL_HUMAN	R3H domain and coiled-coil containing 1-like	197							nucleotide binding (GO:0000166)										ATGGGGAAGCATTTGAAGACA	0.408																																						ENST00000298999.3																			0											c.(589-591)gcA>gcG		R3H domain and coiled-coil containing 1-like							69	69	69					10																	99968462		2203	4300	6503	SO:0001819	synonymous_variant	27291							g.chr10:99968462A>G	AF525304	CCDS31267.1, CCDS58093.1, CCDS73178.1	10q24.2	2012-05-23	2012-05-23	2012-05-23	ENSG00000166024	ENSG00000166024			23512	protein-coding gene	gene with protein product			"chromosome 10 open reading frame 28"	C10orf28			Standard	NM_014472		Approved	GIDRP86, PSORT	uc001kox.4	Q7Z5L2	OTTHUMG00000018873	ENST00000298999.3:c.591A>G	10.37:g.99968462A>G						R3HCC1L_ENST00000370584.3_Silent_p.A197A|R3HCC1L_ENST00000314594.5_5'UTR|R3HCC1L_ENST00000370586.2_Intron	p.A197A	NM_014472.4	NP_055287.4					5	894	+								O60598|Q5W0B4|Q5W0B5|Q86VT9|Q8N9H0	Silent	SNP	ENST00000298999.3	37	c.591A>G	CCDS31267.1																																																																																				0.408	R3HCC1L-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049764.1	NM_014472		8	81	0	0	0	1	0	8	81					G	99968462	A	G	99968462	2	3	429	1	0	0	0	0	0	0	0	1	1601	204	8	4		4	C10orf28	10	99968462	Silent	SNP	A	TCGA-XJ-A9DI-01A-11D-A377-08		99968462	35566285	19	20712											
SLC25A28	81894	broad.mit.edu	37	chr10	101371082	101371082	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccgtacacagtctgtcacccGgtggtatggtgagttgtaca	8	11	12	10	2	2	1	1	1	1	0	2	1	2	1	2	3	2	4	2	3	3	4			TCGA-XJ-A9DI-01A-11D-A377-08	TCGA-XJ-A9DI-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344706a8-f56a-4d3b-b7f9-97eb0aa3924d	0d12cfa6-26d0-40cd-9278-2fc8f1f81f08	g.chr10:101371082G>A	ENST00000370495.4	-	4	647	c.619C>T	c.(619-621)Cgg>Tgg	p.R207W	SLC25A28_ENST00000496035.1_5'UTR	NM_031212.3	NP_112489.3	Q96A46	MFRN2_HUMAN	solute carrier family 25 (mitochondrial iron transporter), member 28	207					ion transport (GO:0006811)|iron ion homeostasis (GO:0055072)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)				endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(2)|stomach(1)	11		Colorectal(252;0.234)		Epithelial(162;2.57e-10)|all cancers(201;2.01e-08)		TCTGTCACCCGGTGGTATGGT	0.547																																						ENST00000370495.4																			0				endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(2)|stomach(1)	11						c.(619-621)Cgg>Tgg		solute carrier family 25 (mitochondrial iron transporter), member 28							84	82	83					10																	101371082		2056	4186	6242	SO:0001583	missense	81894				ion transport|iron ion homeostasis	integral to membrane|mitochondrial inner membrane		g.chr10:101371082G>A	AF327402	CCDS41559.1	10q24.2	2013-05-22	2012-03-29		ENSG00000155287	ENSG00000155287		"Solute carriers"	23472	protein-coding gene	gene with protein product	"mitoferrin 2"	609767	"solute carrier family 25, member 28"			11297739	Standard	NM_031212		Approved	MRS3/4, MRS4L	uc001kpx.2	Q96A46	OTTHUMG00000018886	ENST00000370495.4:c.619C>T	10.37:g.101371082G>A	ENSP00000359526:p.Arg207Trp					SLC25A28_ENST00000496035.1_5'UTR	p.R207W	NM_031212.3	NP_112489.3	Q96A46	MFRN2_HUMAN		Epithelial(162;2.57e-10)|all cancers(201;2.01e-08)	4	647	-		Colorectal(252;0.234)	207					Q4VBZ0|Q5T777|Q86VX5|Q969G8|Q9H2J3	Missense_Mutation	SNP	ENST00000370495.4	37	c.619C>T	CCDS41559.1	.	.	.	.	.	.	.	.	.	.	G	17.95	3.512922	0.64522	.	.	ENSG00000155287	ENST00000434701;ENST00000370495	T;T	0.78481	-1.18;-1.18	5.41	5.41	0.78517	Mitochondrial carrier domain (2);	0.248623	0.40818	N	0.001018	D	0.83403	0.5247	L	0.57536	1.79	0.39816	D	0.97277	D	0.69078	0.997	D	0.66979	0.948	D	0.84745	0.0753	10	0.87932	D	0	-41.1562	9.5395	0.39242	0.073:0.0:0.7851:0.1419	.	207	Q96A46	MFRN2_HUMAN	W	68;207	ENSP00000399102:R68W;ENSP00000359526:R207W	ENSP00000359526:R207W	R	-	1	2	SLC25A28	101361072	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.555000	0.45854	2.815000	0.96918	0.561000	0.74099	CGG		0.547	SLC25A28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049801.1	NM_031212		5	101	0	0	0	1	0	5	101					A	101371082	G	A	101371082	3	1	429	1	0	0	0	0	1	0	0	0	14491	1115	39	2	479	2	SLC25A28	10	101371082	Missense_Mutation	SNP	G	TCGA-XJ-A9DI-01A-11D-A377-08	1402620	101371082	34163665	20	20713											
GTF2H3	2967	broad.mit.edu	37	chr12	124118414	124118414	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgctgggacagccatggtttCagacggtgaggaccctgcag	8	8	15	10	1	1	2	1	1	0	1	1	4	1	4	2	4	3	3	2	4	0	1			TCGA-XJ-A9DI-01A-11D-A377-08	TCGA-XJ-A9DI-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344706a8-f56a-4d3b-b7f9-97eb0aa3924d	0d12cfa6-26d0-40cd-9278-2fc8f1f81f08	g.chr12:124118414C>T	ENST00000543341.2	+	1	39	c.8C>T	c.(7-9)tCa>tTa	p.S3L	EIF2B1_ENST00000539951.1_5'Flank|GTF2H3_ENST00000228955.7_5'UTR|EIF2B1_ENST00000424014.2_5'Flank|EIF2B1_ENST00000537073.1_5'Flank|EIF2B1_ENST00000543940.1_5'Flank	NM_001271867.1|NM_001516.3	NP_001258796.1|NP_001507.2	Q13889	TF2H3_HUMAN	general transcription factor IIH, polypeptide 3, 34kDa	3					7-methylguanosine mRNA capping (GO:0006370)|ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)|gene expression (GO:0010467)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|positive regulation of viral transcription (GO:0050434)|protein phosphorylation (GO:0006468)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|translation (GO:0006412)|viral process (GO:0016032)	core TFIIH complex (GO:0000439)|holo TFIIH complex (GO:0005675)|nucleoplasm (GO:0005654)	damaged DNA binding (GO:0003684)|metal ion binding (GO:0046872)|protein N-terminus binding (GO:0047485)|sequence-specific DNA binding transcription factor activity (GO:0003700)|translation factor activity, nucleic acid binding (GO:0008135)			breast(2)|endometrium(1)|large_intestine(4)|lung(2)|urinary_tract(1)	10	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.1e-05)|Epithelial(86;0.000388)|all cancers(50;0.00362)		GCCATGGTTTCAGACGGTGAG	0.637								Nucleotide excision repair (NER)																													Melanoma(176;111 2022 3038 14733 36962)	ENST00000543341.2																			0				breast(2)|endometrium(1)|large_intestine(4)|lung(2)|urinary_tract(1)	10						c.(7-9)tCa>tTa	Nucleotide excision repair (NER)	general transcription factor IIH, polypeptide 3, 34kDa							78	73	75					12																	124118414		2203	4300	6503	SO:0001583	missense	2967				mRNA capping|nucleotide-excision repair, DNA damage removal|positive regulation of viral transcription|protein phosphorylation|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	core TFIIH complex|holo TFIIH complex	damaged DNA binding|metal ion binding|protein N-terminus binding|sequence-specific DNA binding transcription factor activity|translation factor activity, nucleic acid binding	g.chr12:124118414C>T	Z30093	CCDS9252.1, CCDS61275.1, CCDS73544.1	12q24.31	2012-11-05	2002-08-29		ENSG00000111358	ENSG00000111358		"General transcription factors", "General transcription factor IIH complex subunits"	4657	protein-coding gene	gene with protein product		601750	"general transcription factor IIH, polypeptide 3 (34kD subunit)"			8194529	Standard	NM_001516		Approved	BTF2, TFIIH, P34	uc001ufo.2	Q13889	OTTHUMG00000168697	ENST00000543341.2:c.8C>T	12.37:g.124118414C>T	ENSP00000445162:p.Ser3Leu					GTF2H3_ENST00000228955.7_5'UTR	p.S3L	NM_001271867.1|NM_001516.3	NP_001258796.1|NP_001507.2	Q13889	TF2H3_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;7.1e-05)|Epithelial(86;0.000388)|all cancers(50;0.00362)	1	39	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		3					B2R819|B4DNZ6|Q7L0G0|Q96AT7	Missense_Mutation	SNP	ENST00000543341.2	37	c.8C>T	CCDS9252.1	.	.	.	.	.	.	.	.	.	.	C	13.47	2.247493	0.39697	.	.	ENSG00000111358	ENST00000539994;ENST00000538845;ENST00000543341;ENST00000536375	.	.	.	3.73	3.73	0.42828	.	1.560230	0.03792	N	0.263056	T	0.28267	0.0698	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.05937	-1.0855	9	0.33940	T	0.23	.	11.3332	0.49487	0.0:1.0:0.0:0.0	.	3	Q13889	TF2H3_HUMAN	L	3	.	ENSP00000441894:S3L	S	+	2	0	GTF2H3	122684367	0.117000	0.22190	0.127000	0.21898	0.021000	0.10359	2.897000	0.48664	2.371000	0.80710	0.563000	0.77884	TCA		0.637	GTF2H3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400641.2	NM_001516		8	90	0	0	0	1	0	8	90					T	124118414	C	T	124118414	3	4	429	1	0	0	0	0	1	0	0	0	6864	838	29	3	10	3	GTF2H3	12	124118414	Missense_Mutation	SNP	C	TCGA-XJ-A9DI-01A-11D-A377-08		124118414	9733481	21	20714											
POLE	5426	broad.mit.edu	37	chr12	133220026	133220026	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gctgaactgggccagagagcGcatctccaggtgctcaagag	10	6	14	11	1	2	3	1	1	1	2	3	4	2	3	2	2	3	3	2	2	2	0	rs528264567		TCGA-XJ-A9DI-01A-11D-A377-08	TCGA-XJ-A9DI-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344706a8-f56a-4d3b-b7f9-97eb0aa3924d	0d12cfa6-26d0-40cd-9278-2fc8f1f81f08	g.chr12:133220026G>A	ENST00000320574.5	-	34	4454	c.4411C>T	c.(4411-4413)Cgc>Tgc	p.R1471C	POLE_ENST00000535270.1_Missense_Mutation_p.R1444C|POLE_ENST00000434528.3_5'Flank	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit	1471					base-excision repair, gap-filling (GO:0006287)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA synthesis involved in DNA repair (GO:0000731)|G1/S transition of mitotic cell cycle (GO:0000082)|in utero embryonic development (GO:0001701)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	cytoplasm (GO:0005737)|epsilon DNA polymerase complex (GO:0008622)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	4 iron, 4 sulfur cluster binding (GO:0051539)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|nucleotide binding (GO:0000166)|zinc ion binding (GO:0008270)			NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)	Cladribine(DB00242)	GCCAGAGAGCGCATCTCCAGG	0.587								DNA polymerases (catalytic subunits)					G|||	1	0.000199681	0	0	5008	,	,		19796	0.001		0	False		,,,				2504	0					ENST00000320574.5																			0				NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89						c.(4411-4413)Cgc>Tgc	DNA polymerases (catalytic subunits)	polymerase (DNA directed), epsilon, catalytic subunit							138	132	134					12																	133220026		2203	4300	6503	SO:0001583	missense	5426				base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding	g.chr12:133220026G>A		CCDS9278.1	12q24.3	2014-09-17	2012-05-18		ENSG00000177084	ENSG00000177084		"DNA polymerases"	9177	protein-coding gene	gene with protein product	"DNA polymerase epsilon catalytic subunit A"	174762	"polymerase (DNA directed), epsilon"			8020968	Standard	NM_006231		Approved	POLE1	uc001uks.1	Q07864	OTTHUMG00000168045	ENST00000320574.5:c.4411C>T	12.37:g.133220026G>A	ENSP00000322570:p.Arg1471Cys					POLE_ENST00000535270.1_Missense_Mutation_p.R1444C	p.R1471C	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)	34	4454	-	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)	1471					Q13533|Q86VH9	Missense_Mutation	SNP	ENST00000320574.5	37	c.4411C>T	CCDS9278.1	.	.	.	.	.	.	.	.	.	.	G	16.21	3.059249	0.55325	.	.	ENSG00000177084	ENST00000320574;ENST00000455752;ENST00000535270	T;T;T	0.02974	4.09;4.09;4.09	5.71	5.71	0.89125	.	0.042915	0.85682	D	0.000000	T	0.04952	0.0133	L	0.52126	1.63	0.80722	D	1	B;B	0.24721	0.085;0.11	B;B	0.20577	0.03;0.008	T	0.43015	-0.9417	10	0.38643	T	0.18	.	18.1027	0.89510	0.0:0.0:1.0:0.0	.	1444;1471	F5H1D6;Q07864	.;DPOE1_HUMAN	C	1471;1482;1444	ENSP00000322570:R1471C;ENSP00000406383:R1482C;ENSP00000445753:R1444C	ENSP00000322570:R1471C	R	-	1	0	POLE	131730099	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.972000	0.70448	2.716000	0.92895	0.650000	0.86243	CGC		0.587	POLE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397689.2	NM_006231		5	138	0	0	0	1	0	5	138					A	133220026	G	A	133220026	3	1	429	1	0	0	0	0	1	0	0	0	12196	1087	38	1	2513	1	POLE	12	133220026	Missense_Mutation	SNP	G	TCGA-XJ-A9DI-01A-11D-A377-08	9101612	133220026	631869	22	20715											
TP53	7157	broad.mit.edu	37	chr17	7578413	7578413	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atggtgggggcagcgcctcaCaacctccgtcatgtgctgtg	6	9	14	12	2	2	0	2	0	0	0	3	0	3	0	3	3	3	2	3	3	1	0			TCGA-XJ-A9DI-01A-11D-A377-08	TCGA-XJ-A9DI-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344706a8-f56a-4d3b-b7f9-97eb0aa3924d	0d12cfa6-26d0-40cd-9278-2fc8f1f81f08	g.chr17:7578413C>T	ENST00000269305.4	-	5	706	c.517G>A	c.(517-519)Gtg>Atg	p.V173M	TP53_ENST00000574684.1_5'UTR|TP53_ENST00000413465.2_Missense_Mutation_p.V173M|TP53_ENST00000445888.2_Missense_Mutation_p.V173M|TP53_ENST00000455263.2_Missense_Mutation_p.V173M|TP53_ENST00000420246.2_Missense_Mutation_p.V173M|TP53_ENST00000359597.4_Missense_Mutation_p.V173M	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	173	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		V -> A (in sporadic cancers; somatic mutation).|V -> E (in sporadic cancers; somatic mutation).|V -> G (in sporadic cancers; somatic mutation).|V -> L (in sporadic cancers; somatic mutation).|V -> M (in LFS; germline mutation and in sporadic cancers; somatic mutation).|V -> W (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.V173L(68)|p.V173M(46)|p.0?(8)|p.V80L(6)|p.V41L(6)|p.V173fs*1(4)|p.V80M(3)|p.V41M(3)|p.V173fs*59(2)|p.V157_C176del20(1)|p.V172_R174delVVR(1)|p.V173fs*69(1)|p.P151_V173del23(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.V172_E180delVVRRCPHHE(1)|p.E171fs*1(1)|p.V173W(1)|p.V173fs*8(1)|p.H168fs*69(1)|p.E171_H179delEVVRRCPHH(1)|p.S149fs*72(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	CAGCGCCTCACAACCTCCGTC	0.662		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"Mis, N, F"	tumor protein p53			"L, E, M, O"		"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"	"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"		159	Substitution - Missense(133)|Deletion - Frameshift(12)|Whole gene deletion(8)|Deletion - In frame(5)|Insertion - Frameshift(1)	p.V173L(68)|p.V173M(46)|p.0?(8)|p.V80L(6)|p.V41L(6)|p.V173fs*1(4)|p.V80M(3)|p.V41M(3)|p.V173fs*59(2)|p.V157_C176del20(1)|p.V172_R174delVVR(1)|p.V173fs*69(1)|p.P151_V173del23(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.V172_E180delVVRRCPHHE(1)|p.E171fs*1(1)|p.V173W(1)|p.V173fs*8(1)|p.H168fs*69(1)|p.E171_H179delEVVRRCPHH(1)|p.S149fs*72(1)	upper_aerodigestive_tract(29)|large_intestine(25)|lung(17)|stomach(16)|ovary(14)|breast(11)|oesophagus(9)|central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(6)|skin(6)|bone(5)|liver(4)|vulva(3)|soft_tissue(2)|kidney(1)|biliary_tract(1)|urinary_tract(1)|pancreas(1)|autonomic_ganglia(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185	GRCh37	CM070299	TP53	M		c.(517-519)Gtg>Atg	Other conserved DNA damage response genes	tumor protein p53							51	51	51					17																	7578413		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578413C>T	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"Li-Fraumeni syndrome"	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.517G>A	17.37:g.7578413C>T	ENSP00000269305:p.Val173Met	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_ENST00000445888.2_Missense_Mutation_p.V173M|TP53_ENST00000269305.4_Missense_Mutation_p.V173M|TP53_ENST00000413465.2_Missense_Mutation_p.V173M|TP53_ENST00000359597.4_Missense_Mutation_p.V173M|TP53_ENST00000455263.2_Missense_Mutation_p.V173M|TP53_ENST00000574684.1_5'UTR	p.V173M	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	5	649	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	173		V -> A (in sporadic cancers; somatic mutation).|V -> E (in sporadic cancers; somatic mutation).|V -> G (in sporadic cancers; somatic mutation).|V -> L (in sporadic cancers; somatic mutation).|V -> M (in LFS; germline mutation and in sporadic cancers; somatic mutation).|V -> W (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.517G>A	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.408040	0.83340	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99860	-7.25;-7.25;-7.25;-7.25;-7.25;-7.25;-7.25;-7.25	5.59	5.59	0.84812	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99891	0.9948	M	0.92459	3.31	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;0.998;1.0;1.0;0.997;0.999;1.0	D;D;D;D;D;D;D	0.97110	1.0;0.988;0.999;1.0;0.978;0.99;1.0	D	0.96586	0.9434	10	0.87932	D	0	-25.5548	17.4784	0.87667	0.0:1.0:0.0:0.0	.	134;173;173;80;173;173;173	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	M	173;173;173;173;173;173;162;80;41;80;41	ENSP00000410739:V173M;ENSP00000352610:V173M;ENSP00000269305:V173M;ENSP00000398846:V173M;ENSP00000391127:V173M;ENSP00000391478:V173M;ENSP00000425104:V41M;ENSP00000423862:V80M	ENSP00000269305:V173M	V	-	1	0	TP53	7519138	1.000000	0.71417	0.150000	0.22450	0.458000	0.32498	7.775000	0.85489	2.804000	0.96469	0.655000	0.94253	GTG		0.662	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		4	84	0	0	0	1	0	4	84					T	7578413	C	T	7578413	3	4	429	1	0	0	0	0	1	0	0	0	16378	478	17	3	781	3	TP53	17	7578413	Missense_Mutation	SNP	C	TCGA-XJ-A9DI-01A-11D-A377-08		7578413	73616797	23	20716											
WNK4	65266	broad.mit.edu	37	chr17	40937388	40937388	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgagaagccgggcctcaagcTctggctgcgcatggaggacg	8	5	16	12	4	2	1	1	0	1	1	2	4	2	3	2	4	3	3	2	4	2	0			TCGA-XJ-A9DI-01A-11D-A377-08	TCGA-XJ-A9DI-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344706a8-f56a-4d3b-b7f9-97eb0aa3924d	0d12cfa6-26d0-40cd-9278-2fc8f1f81f08	g.chr17:40937388T>C	ENST00000246914.5	+	6	1385	c.1364T>C	c.(1363-1365)cTc>cCc	p.L455P	WNK4_ENST00000587705.1_3'UTR	NM_032387.4	NP_115763.2	Q96J92	WNK4_HUMAN	WNK lysine deficient protein kinase 4	455					chloride transport (GO:0006821)|distal tubule morphogenesis (GO:0072156)|intracellular signal transduction (GO:0035556)|ion homeostasis (GO:0050801)|ion transport (GO:0006811)|negative regulation of pancreatic juice secretion (GO:0090188)|protein localization (GO:0008104)|protein phosphorylation (GO:0006468)|regulation of cellular process (GO:0050794)|renal sodium ion absorption (GO:0070294)	cytoplasm (GO:0005737)|tight junction (GO:0005923)	ATP binding (GO:0005524)|chloride channel inhibitor activity (GO:0019869)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|prostate(1)|skin(5)|stomach(1)	35		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.0749)		GGCCTCAAGCTCTGGCTGCGC	0.711																																					Esophageal Squamous(6;201 374 4964 23855 42828)	ENST00000246914.5																			0				NS(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|prostate(1)|skin(5)|stomach(1)	35						c.(1363-1365)cTc>cCc		WNK lysine deficient protein kinase 4							14	16	15					17																	40937388		2189	4278	6467	SO:0001583	missense	65266				intracellular protein kinase cascade	tight junction	ATP binding|protein serine/threonine kinase activity	g.chr17:40937388T>C	AJ309861	CCDS11439.1	17q21-q22	2005-01-19	2005-01-19	2005-01-19		ENSG00000126562			14544	protein-coding gene	gene with protein product		601844	"protein kinase, lysine deficient 4"	PRKWNK4			Standard	NM_032387		Approved		uc002ibj.3	Q96J92		ENST00000246914.5:c.1364T>C	17.37:g.40937388T>C	ENSP00000246914:p.Leu455Pro					WNK4_ENST00000587705.1_3'UTR	p.L455P	NM_032387.4	NP_115763.2	Q96J92	WNK4_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.0749)	6	1385	+		Breast(137;0.000143)	455					B0LPI0|Q8N8X3|Q8N8Z2|Q96DT8|Q9BYS5	Missense_Mutation	SNP	ENST00000246914.5	37	c.1364T>C	CCDS11439.1	.	.	.	.	.	.	.	.	.	.	T	23.3	4.404947	0.83230	.	.	ENSG00000126562	ENST00000246914;ENST00000316085	T	0.60797	0.16	5.28	5.28	0.74379	Serine/threonine-protein kinase OSR1/WNK, CCT domain (1);	0.380663	0.18412	N	0.142038	T	0.66557	0.2801	L	0.29908	0.895	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.99;0.997;0.997	T	0.69752	-0.5060	10	0.87932	D	0	-9.5774	14.8592	0.70366	0.0:0.0:0.0:1.0	.	455;455;455	Q96J92-3;B0LPI0;Q96J92	.;.;WNK4_HUMAN	P	455;227	ENSP00000246914:L455P	ENSP00000246914:L455P	L	+	2	0	WNK4	38190914	1.000000	0.71417	1.000000	0.80357	0.509000	0.34042	8.037000	0.88933	1.994000	0.58287	0.454000	0.30748	CTC		0.711	WNK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452389.1			5	11	0	0	0	1	0	5	11					C	40937388	T	C	40937388	3	2	429	1	0	0	0	0	1	0	0	0	17377	1551	54	4	1386	4	WNK4	17	40937388	Missense_Mutation	SNP	T	TCGA-XJ-A9DI-01A-11D-A377-08	33358975	40937388	40257822	24	20717											
NAGS	162417	broad.mit.edu	37	chr17	42084736	42084736	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgagcgaatgctacgggtgcGcagcctggacaagctggacc	9	5	15	12	4	0	0	0	0	0	0	0	4	0	2	2	3	6	3	2	3	3	1			TCGA-XJ-A9DI-01A-11D-A377-08	TCGA-XJ-A9DI-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344706a8-f56a-4d3b-b7f9-97eb0aa3924d	0d12cfa6-26d0-40cd-9278-2fc8f1f81f08	g.chr17:42084736G>A	ENST00000293404.3	+	5	1260	c.1142G>A	c.(1141-1143)cGc>cAc	p.R381H	PYY_ENST00000360085.2_5'Flank	NM_153006.2	NP_694551.1	Q8N159	NAGS_HUMAN	N-acetylglutamate synthase	381	N-acetyltransferase. {ECO:0000255|PROSITE-ProRule:PRU00532}.				arginine biosynthetic process (GO:0006526)|cellular nitrogen compound metabolic process (GO:0034641)|glutamate metabolic process (GO:0006536)|small molecule metabolic process (GO:0044281)|urea cycle (GO:0000050)	mitochondrial matrix (GO:0005759)	acetyl-CoA:L-glutamate N-acetyltransferase activity (GO:0004042)			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	8		Breast(137;0.00536)|Prostate(33;0.0724)		BRCA - Breast invasive adenocarcinoma(366;0.113)		CTACGGGTGCGCAGCCTGGAC	0.672											OREG0024449	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000293404.3																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	8						c.(1141-1143)cGc>cAc		N-acetylglutamate synthase	L-Glutamic Acid(DB00142)						30	32	32					17																	42084736		2197	4300	6497	SO:0001583	missense	162417				arginine biosynthetic process|urea cycle	mitochondrial matrix	acetyl-CoA:L-glutamate N-acetyltransferase activity	g.chr17:42084736G>A	AY116537	CCDS11473.1	17q21.31	2008-02-05				ENSG00000161653			17996	protein-coding gene	gene with protein product		608300				15050968, 12459178	Standard	NM_153006		Approved	AGAS, ARGA, NAT7	uc002ies.3	Q8N159		ENST00000293404.3:c.1142G>A	17.37:g.42084736G>A	ENSP00000293404:p.Arg381His		OREG0024449	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	906		p.R381H	NM_153006.2	NP_694551.1	Q8N159	NAGS_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.113)	5	1260	+		Breast(137;0.00536)|Prostate(33;0.0724)	381			N-acetyltransferase.		B2RAZ9|Q8IWR4	Missense_Mutation	SNP	ENST00000293404.3	37	c.1142G>A	CCDS11473.1	.	.	.	.	.	.	.	.	.	.	G	11.33	1.607545	0.28623	.	.	ENSG00000161653	ENST00000541745;ENST00000293404	D	0.95238	-3.65	5.56	3.38	0.38709	GCN5-related N-acetyltransferase (GNAT) domain (1);Acyl-CoA N-acyltransferase (2);Domain of unknown function DUF619 (1);	1.137020	0.06327	N	0.705475	D	0.87779	0.6263	N	0.11756	0.17	0.19300	N	0.999978	P;P	0.47350	0.894;0.894	B;B	0.40199	0.322;0.322	T	0.80652	-0.1287	10	0.36615	T	0.2	-7.3928	7.6713	0.28460	0.2454:0.0:0.7546:0.0	.	215;381	Q2NKP2;Q8N159	.;NAGS_HUMAN	H	215;381	ENSP00000293404:R381H	ENSP00000293404:R381H	R	+	2	0	NAGS	39440262	0.053000	0.20554	0.948000	0.38648	0.449000	0.32228	0.694000	0.25512	1.358000	0.45922	0.561000	0.74099	CGC		0.672	NAGS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457660.1	NM_153006		3	37	0	0	0	1	0	3	37					A	42084736	G	A	42084736	3	1	429	1	0	0	0	0	1	0	0	0	10145	1087	38	1	1160	1	NAGS	17	42084736	Missense_Mutation	SNP	G	TCGA-XJ-A9DI-01A-11D-A377-08	1147348	42084736	39110474	25	20718											
ZNF709	163051	broad.mit.edu	37	chr19	12575498	12575498	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggggtttctctccagtgtgaGttctttcatgcattcgaaag	7	15	11	8	1	3	1	1	1	2	0	6	2	4	1	1	2	1	3	1	2	1	4			TCGA-XJ-A9DI-01A-11D-A377-08	TCGA-XJ-A9DI-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344706a8-f56a-4d3b-b7f9-97eb0aa3924d	0d12cfa6-26d0-40cd-9278-2fc8f1f81f08	g.chr19:12575498G>A	ENST00000397732.3	-	4	1409	c.1238C>T	c.(1237-1239)aCt>aTt	p.T413I	CTD-3105H18.18_ENST00000598753.1_Intron|ZNF709_ENST00000428311.1_Missense_Mutation_p.T413I	NM_152601.3	NP_689814.1	Q8N972	ZN709_HUMAN	zinc finger protein 709	413					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.T413I(2)		large_intestine(3)|upper_aerodigestive_tract(3)	6						TCCAGTGTGAGTTCTTTCATG	0.418																																					GBM(33;565 669 12371 29134 51667)	ENST00000397732.3																			2	Substitution - Missense(2)	p.T413I(2)	kidney(1)|skin(1)	large_intestine(3)|upper_aerodigestive_tract(3)	6						c.(1237-1239)aCt>aTt		zinc finger protein 709							106	111	109					19																	12575498		2202	4299	6501	SO:0001583	missense	163051				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12575498G>A	AK095600	CCDS42504.1	19p13.2	2013-01-08			ENSG00000242852	ENSG00000242852		"Zinc fingers, C2H2-type", "-"	20629	protein-coding gene	gene with protein product							Standard	NM_152601		Approved	FLJ38281	uc002mtv.4	Q8N972	OTTHUMG00000156406	ENST00000397732.3:c.1238C>T	19.37:g.12575498G>A	ENSP00000380840:p.Thr413Ile					CTD-3105H18.18_ENST00000598753.1_Intron|ZNF709_ENST00000428311.1_Missense_Mutation_p.T413I	p.T413I	NM_152601.3	NP_689814.1	Q8N972	ZN709_HUMAN			4	1409	-			413					A8K4E6	Missense_Mutation	SNP	ENST00000397732.3	37	c.1238C>T	CCDS42504.1	.	.	.	.	.	.	.	.	.	.	G	0.031	-1.333208	0.01298	.	.	ENSG00000242852;ENSG00000196826	ENST00000397732;ENST00000428311	T;T	0.06142	3.34;3.34	3.05	-3.79	0.04320	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.35067	N	0.003471	T	0.01976	0.0062	N	0.11000	0.08	0.09310	N	1	B	0.28258	0.205	B	0.25884	0.064	T	0.43814	-0.9368	10	0.02654	T	1	.	5.8441	0.18652	0.2644:0.3999:0.3357:0.0	.	413	Q8N972	ZN709_HUMAN	I	413	ENSP00000380840:T413I;ENSP00000404127:T413I	ENSP00000404127:T413I	T	-	2	0	ZNF709;CTD-2192J16.17	12436498	0.000000	0.05858	0.002000	0.10522	0.972000	0.66771	-2.485000	0.00979	-0.610000	0.05716	0.591000	0.81541	ACT		0.418	ZNF709-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344088.1	NM_152601		5	171	0	0	0	1	0	5	171					A	12575498	G	A	12575498	3	1	429	1	0	0	0	0	1	0	0	0	18110	1029	36	3	691	3	ZNF709	19	12575498	Missense_Mutation	SNP	G	TCGA-XJ-A9DI-01A-11D-A377-08		12575498	46553485	26	20719											
ZNF208	7757	broad.mit.edu	37	chr19	22156313	22156313	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gttccataaggtttgaggacCagttgaaagctttgccacat	11	12	10	8	0	0	2	0	2	0	0	1	3	1	3	3	2	2	4	3	2	2	5	rs62110926		TCGA-XJ-A9DI-01A-11D-A377-08	TCGA-XJ-A9DI-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344706a8-f56a-4d3b-b7f9-97eb0aa3924d	0d12cfa6-26d0-40cd-9278-2fc8f1f81f08	g.chr19:22156313C>A	ENST00000397126.4	-	4	1671	c.1523G>T	c.(1522-1524)tGg>tTg	p.W508L	ZNF208_ENST00000599916.1_Intron|ZNF208_ENST00000601773.1_Intron	NM_007153.3	NP_009084.2	O43345	ZN208_HUMAN	zinc finger protein 208	508					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				GTTTGAGGACCAGTTGAAAGC	0.393																																						ENST00000397126.4																			0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113						c.(1522-1524)tGg>tTg		zinc finger protein 208							17	16	16					19																	22156313		692	1589	2281	SO:0001583	missense	7757							g.chr19:22156313C>A	BC038199	CCDS54240.1	19p12	2013-01-08				ENSG00000160321		"Zinc fingers, C2H2-type", "-"	12999	protein-coding gene	gene with protein product	"zinc finger protein 95"	603977				9724325	Standard	NM_007153		Approved	PMIDP, ZNF95	uc021urr.1	O43345		ENST00000397126.4:c.1523G>T	19.37:g.22156313C>A	ENSP00000380315:p.Trp508Leu					ZNF208_ENST00000599916.1_Intron|ZNF208_ENST00000601773.1_Intron	p.W508L	NM_007153.3	NP_009084.2					4	1671	-		all_lung(12;0.0961)|Lung NSC(12;0.103)							Missense_Mutation	SNP	ENST00000397126.4	37	c.1523G>T	CCDS54240.1	.	.	.	.	.	.	.	.	.	.	C	1.357	-0.589692	0.03799	.	.	ENSG00000160321	ENST00000397126;ENST00000400646	T	0.28255	1.62	2.8	-4.32	0.03688	.	.	.	.	.	T	0.11239	0.0274	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.30208	-0.9986	6	0.10636	T	0.68	.	4.7973	0.13279	0.1416:0.1941:0.0:0.6642	.	.	.	.	L	508;34	ENSP00000380315:W508L	ENSP00000380315:W508L	W	-	2	0	ZNF208	21948153	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.791000	0.04599	-1.835000	0.01191	-0.667000	0.03836	TGG		0.393	ZNF208-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464302.1	NM_007153		4	64	1	0	0.184627	1	0.18913	4	64					A	22156313	C	A	22156313	3	1	429	1	0	0	0	0	1	0	0	0	17763	595	21	5	2323	5	ZNF208	19	22156313	Missense_Mutation	SNP	C	TCGA-XJ-A9DI-01A-11D-A377-08	9580815	22156313	36972670	27	20720											
USF2	7392	broad.mit.edu	37	chr19	35761491	35761491	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agaccacagaccagagcttgCaggctggaggtgaggagtag	12	5	16	8	0	0	4	0	1	0	3	0	6	0	6	2	4	2	4	2	4	1	2			TCGA-XJ-A9DI-01A-11D-A377-08	TCGA-XJ-A9DI-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344706a8-f56a-4d3b-b7f9-97eb0aa3924d	0d12cfa6-26d0-40cd-9278-2fc8f1f81f08	g.chr19:35761491C>T	ENST00000222305.3	+	5	608	c.571C>T	c.(571-573)Cag>Tag	p.Q191*	USF2_ENST00000594064.1_Nonsense_Mutation_p.Q189*|USF2_ENST00000343550.5_Nonsense_Mutation_p.Q124*|USF2_ENST00000379134.3_Intron|USF2_ENST00000595068.1_Nonsense_Mutation_p.Q191*	NM_003367.2	NP_003358.1	Q15853	USF2_HUMAN	upstream transcription factor 2, c-fos interacting	191					lactation (GO:0007595)|late viral transcription (GO:0019086)|lipid homeostasis (GO:0055088)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter by glucose (GO:0000432)|regulation of transcription from RNA polymerase II promoter by glucose (GO:0000430)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	bHLH transcription factor binding (GO:0043425)|double-stranded DNA binding (GO:0003690)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|urinary_tract(1)	13	all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162)		Epithelial(14;7.4e-20)|OV - Ovarian serous cystadenocarcinoma(14;6.47e-19)|all cancers(14;4.17e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417)			CCAGAGCTTGCAGGCTGGAGG	0.627																																					NSCLC(103;173 2832 8890)	ENST00000222305.3																			0				central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|urinary_tract(1)	13						c.(571-573)Cag>Tag		upstream transcription factor 2, c-fos interacting							72	70	70					19																	35761491		2203	4300	6503	SO:0001587	stop_gained	7392				lipid homeostasis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter by glucose	nucleus	bHLH transcription factor binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity	g.chr19:35761491C>T	AY007087	CCDS12452.1, CCDS12453.1	19q13	2013-05-21				ENSG00000105698		"Basic helix-loop-helix proteins"	12594	protein-coding gene	gene with protein product		600390				8954795	Standard	NM_003367		Approved	FIP, bHLHb12	uc002nyq.1	Q15853		ENST00000222305.3:c.571C>T	19.37:g.35761491C>T	ENSP00000222305:p.Gln191*					USF2_ENST00000379134.3_Intron|USF2_ENST00000595068.1_Nonsense_Mutation_p.Q191*|USF2_ENST00000594064.1_Nonsense_Mutation_p.Q189*|USF2_ENST00000343550.5_Nonsense_Mutation_p.Q124*	p.Q191*	NM_003367.2	NP_003358.1	Q15853	USF2_HUMAN	Epithelial(14;7.4e-20)|OV - Ovarian serous cystadenocarcinoma(14;6.47e-19)|all cancers(14;4.17e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417)		5	608	+	all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162)		191					O00671|O00709|Q05750|Q07952|Q15851|Q15852|Q6FI33|Q6YI47	Nonsense_Mutation	SNP	ENST00000222305.3	37	c.571C>T	CCDS12452.1	.	.	.	.	.	.	.	.	.	.	C	37	6.140102	0.97320	.	.	ENSG00000105698	ENST00000222305;ENST00000343550	.	.	.	3.63	3.63	0.41609	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.05959	T	0.93	.	13.1763	0.59629	0.0:1.0:0.0:0.0	.	.	.	.	X	191;124	.	ENSP00000222305:Q191X	Q	+	1	0	USF2	40453331	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	6.535000	0.73838	2.025000	0.59659	0.555000	0.69702	CAG		0.627	USF2-013	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466056.1	NM_003367		12	68	0	0	0	1	0	12	68					T	35761491	C	T	35761491	4	4	429	1	0	0	0	0	0	1	0	0	17030	711	25	3	589	3	USF2	19	35761491	Nonsense_Mutation	SNP	C	TCGA-XJ-A9DI-01A-11D-A377-08	13605178	35761491	23367492	28	20721											
MTMR3	8897	broad.mit.edu	37	chr22	30398881	30398881	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctctttagattatgtggtagCtatcctcaagagctcatagt	10	15	8	8	0	3	2	2	0	1	2	4	2	4	2	1	1	2	3	1	1	6	6			TCGA-XJ-A9DI-01A-11D-A377-08	TCGA-XJ-A9DI-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344706a8-f56a-4d3b-b7f9-97eb0aa3924d	0d12cfa6-26d0-40cd-9278-2fc8f1f81f08	g.chr22:30398881C>G	ENST00000401950.2	+	9	912	c.570C>G	c.(568-570)agC>agG	p.S190R	MTMR3_ENST00000406629.1_Missense_Mutation_p.S190R|MTMR3_ENST00000333027.3_Missense_Mutation_p.S190R|MTMR3_ENST00000351488.3_Missense_Mutation_p.S190R|MTMR3_ENST00000323630.5_Missense_Mutation_p.S54R	NM_021090.3	NP_066576.1	Q13615	MTMR3_HUMAN	myotubularin related protein 3	190	Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}.				peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|protein dephosphorylation (GO:0006470)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extrinsic component of membrane (GO:0019898)|membrane (GO:0016020)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity (GO:0052629)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)			breast(3)|large_intestine(3)|ovary(2)|skin(8)|upper_aerodigestive_tract(1)	17			OV - Ovarian serous cystadenocarcinoma(5;0.00204)|Epithelial(10;0.06)|all cancers(5;0.107)			TATGTGGTAGCTATCCTCAAG	0.488																																						ENST00000333027.3																			0				breast(3)|large_intestine(3)|ovary(2)|skin(8)|upper_aerodigestive_tract(1)	17						c.(568-570)agC>agG		myotubularin related protein 3							102	91	94					22																	30398881		2203	4300	6503	SO:0001583	missense	8897				phosphatidylinositol dephosphorylation	cytoplasm|membrane|membrane fraction|nucleus	metal ion binding|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity	g.chr22:30398881C>G	U58034	CCDS13870.1, CCDS13871.1, CCDS46682.1	22q12.2	2011-06-09			ENSG00000100330	ENSG00000100330		"Zinc fingers, FYVE domain containing", "Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"	7451	protein-coding gene	gene with protein product		603558				8640223, 9736772	Standard	NM_153050		Approved	KIAA0371, ZFYVE10, FYVE-DSP1	uc003agv.4	Q13615	OTTHUMG00000151278	ENST00000401950.2:c.570C>G	22.37:g.30398881C>G	ENSP00000384651:p.Ser190Arg					MTMR3_ENST00000323630.5_Missense_Mutation_p.S54R|MTMR3_ENST00000406629.1_Missense_Mutation_p.S190R|MTMR3_ENST00000401950.2_Missense_Mutation_p.S190R|MTMR3_ENST00000351488.3_Missense_Mutation_p.S190R	p.S190R	NM_153050.2|NM_153051.2	NP_694690.1|NP_694691.1	Q13615	MTMR3_HUMAN	OV - Ovarian serous cystadenocarcinoma(5;0.00204)|Epithelial(10;0.06)|all cancers(5;0.107)		9	898	+			190			Myotubularin phosphatase.		A5PL26|A7MD32|Q9NYN5|Q9NYN6|Q9UDX6|Q9UEG3	Missense_Mutation	SNP	ENST00000401950.2	37	c.570C>G	CCDS13870.1	.	.	.	.	.	.	.	.	.	.	C	18.99	3.740829	0.69304	.	.	ENSG00000100330	ENST00000401950;ENST00000333027;ENST00000323630;ENST00000351488;ENST00000406629	D;D;D;D;D	0.94723	-3.5;-3.5;-3.5;-3.5;-3.5	5.7	-0.175	0.13315	Myotubularin phosphatase domain (1);Myotubularin-related (1);	0.072065	0.85682	D	0.000000	D	0.97056	0.9038	M	0.91038	3.17	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.80764	0.994;0.993;0.994	D	0.96076	0.9050	10	0.87932	D	0	.	10.5685	0.45186	0.0:0.4847:0.0:0.5153	.	190;190;190	Q13615-3;Q13615;Q13615-2	.;MTMR3_HUMAN;.	R	190;190;54;190;190	ENSP00000384651:S190R;ENSP00000331649:S190R;ENSP00000318070:S54R;ENSP00000307271:S190R;ENSP00000384077:S190R	ENSP00000318070:S54R	S	+	3	2	MTMR3	28728881	0.993000	0.37304	0.998000	0.56505	0.990000	0.78478	0.371000	0.20450	0.035000	0.15519	0.467000	0.42956	AGC		0.488	MTMR3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000322066.1	NM_021090		3	43	0	0	0	1	0	3	43					G	30398881	C	G	30398881	3	3	429	1	0	0	0	0	1	0	0	0	9945	796	28	5	596	5	MTMR3	22	30398881	Missense_Mutation	SNP	C	TCGA-XJ-A9DI-01A-11D-A377-08		30398881	20905685	29	20722											
MCAT	27349	broad.mit.edu	37	chr22	43529100	43529100	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acatgttcgagggtctgcagCacatccacggcgctgtagga	9	8	13	11	3	1	0	0	0	1	0	3	2	2	1	1	3	2	5	1	3	1	2			TCGA-XJ-A9DI-01A-11D-A377-08	TCGA-XJ-A9DI-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344706a8-f56a-4d3b-b7f9-97eb0aa3924d	0d12cfa6-26d0-40cd-9278-2fc8f1f81f08	g.chr22:43529100C>T	ENST00000290429.6	-	4	1167	c.1122G>A	c.(1120-1122)gtG>gtA	p.V374V	MCAT_ENST00000327555.5_3'UTR	NM_173467.4	NP_775738.3	Q8IVS2	FABD_HUMAN	malonyl CoA:ACP acyltransferase (mitochondrial)	374					fatty acid biosynthetic process (GO:0006633)|metabolic process (GO:0008152)	mitochondrion (GO:0005739)	[acyl-carrier-protein] S-malonyltransferase activity (GO:0004314)|poly(A) RNA binding (GO:0044822)|transferase activity (GO:0016740)			breast(1)|endometrium(3)|large_intestine(2)|lung(3)|ovary(1)|urinary_tract(1)	11		Ovarian(80;0.0694)				GGGTCTGCAGCACATCCACGG	0.612																																						ENST00000290429.5																			0				breast(1)|endometrium(3)|large_intestine(2)|lung(3)|ovary(1)|urinary_tract(1)	11						c.(1120-1122)gtG>gtA		malonyl CoA:ACP acyltransferase (mitochondrial)							108	108	108					22																	43529100		2203	4300	6503	SO:0001819	synonymous_variant	27349				fatty acid biosynthetic process	mitochondrion	[acyl-carrier-protein] S-malonyltransferase activity|binding	g.chr22:43529100C>T	AL359401	CCDS14045.1, CCDS33660.1	22q13.2	2010-04-27			ENSG00000100294	ENSG00000100294	2.3.1.39		29622	protein-coding gene	gene with protein product		614479				12882974	Standard	NM_173467		Approved	MT, MCT, fabD, FASN2C, NET62	uc003bdl.1	Q8IVS2	OTTHUMG00000150704	ENST00000290429.6:c.1122G>A	22.37:g.43529100C>T						MCAT_ENST00000327555.5_3'UTR	p.V374V	NM_173467.4	NP_775738.3	Q8IVS2	FABD_HUMAN			4	1167	-		Ovarian(80;0.0694)	374					B0QY72|O95510|O95511	Silent	SNP	ENST00000290429.6	37	c.1122G>A	CCDS33660.1																																																																																				0.612	MCAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319677.2	NM_173467		14	199	0	0	0	1	0	14	199					T	43529100	C	T	43529100	2	4	429	1	0	0	0	0	0	0	0	1	9372	697	25	3		3	MCAT	22	43529100	Silent	SNP	C	TCGA-XJ-A9DI-01A-11D-A377-08	13130219	43529100	7775466	30	20723											
DYSF	8291	broad.mit.edu	37	chr2	71783123	71783123	+	Frame_Shift_Del	DEL	C	C	-																															cctggagcaggtccacctggCcctgaaggcgcagtgctcca																										TCGA-XJ-A9DK-01A-11D-A377-08	TCGA-XJ-A9DK-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd4e4ca0-0447-4148-8ee3-323010c60f2b	4c074125-47a4-4533-a8f6-a96d06f5e5b7	g.chr2:71783123delC	ENST00000258104.3	+	22	2361	c.2084delC	c.(2083-2085)gccfs	p.A695fs	DYSF_ENST00000410041.1_Frame_Shift_Del_p.A713fs|DYSF_ENST00000409744.1_Frame_Shift_Del_p.A682fs|DYSF_ENST00000413539.2_Frame_Shift_Del_p.A726fs|DYSF_ENST00000409366.1_Frame_Shift_Del_p.A696fs|DYSF_ENST00000394120.2_Frame_Shift_Del_p.A696fs|DYSF_ENST00000409651.1_Frame_Shift_Del_p.A727fs|DYSF_ENST00000409762.1_Frame_Shift_Del_p.A712fs|DYSF_ENST00000409582.3_Frame_Shift_Del_p.A712fs|DYSF_ENST00000410020.3_Frame_Shift_Del_p.A713fs|DYSF_ENST00000429174.2_Frame_Shift_Del_p.A695fs	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	695					plasma membrane repair (GO:0001778)|vesicle fusion (GO:0006906)	cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|phospholipid binding (GO:0005543)			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						GTCCACCTGGCCCTGAAGGCG	0.667																																						ENST00000258104.3																			0				autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						c.(2083-2085)gcfs		dysferlin							30	25	26					2																	71783123		2190	4287	6477	SO:0001589	frameshift_variant	8291					cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding	g.chr2:71783123delC	AF075575	CCDS1918.1, CCDS46323.1, CCDS46324.1, CCDS46325.1, CCDS46326.1, CCDS46327.1, CCDS46328.1, CCDS46329.1, CCDS46330.1, CCDS46331.1, CCDS46332.1	2p13.3	2014-09-17	2013-09-12		ENSG00000135636	ENSG00000135636			3097	protein-coding gene	gene with protein product	"fer-1-like family member 1"	603009	"limb girdle muscular dystrophy 2B (autosomal recessive)"	LGMD2B		8320700	Standard	NM_003494		Approved	FER1L1	uc010fen.3	O75923	OTTHUMG00000129757	ENST00000258104.3:c.2084delC	2.37:g.71783123delC	ENSP00000258104:p.Ala695fs					DYSF_ENST00000410020.3_Frame_Shift_Del_p.A713fs|DYSF_ENST00000409582.3_Frame_Shift_Del_p.A712fs|DYSF_ENST00000429174.2_Frame_Shift_Del_p.A695fs|DYSF_ENST00000410041.1_Frame_Shift_Del_p.A713fs|DYSF_ENST00000409366.1_Frame_Shift_Del_p.A696fs|DYSF_ENST00000394120.2_Frame_Shift_Del_p.A696fs|DYSF_ENST00000409744.1_Frame_Shift_Del_p.A682fs|DYSF_ENST00000409762.1_Frame_Shift_Del_p.A712fs|DYSF_ENST00000409651.1_Frame_Shift_Del_p.A727fs|DYSF_ENST00000413539.2_Frame_Shift_Del_p.A726fs	p.A695fs	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN			22	2361	+			695					A0FK00|B1PZ70|B1PZ71|B1PZ72|B1PZ73|B1PZ74|B1PZ75|B1PZ76|B1PZ77|B1PZ78|B1PZ79|B1PZ80|B1PZ81|B3KQB9|O75696|Q09EX5|Q0H395|Q53QY3|Q53TD2|Q8TEL8|Q9UEN7	Frame_Shift_Del	DEL	ENST00000258104.3	37	c.2084delC	CCDS1918.1																																																																																				0.667	DYSF-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000251970.3	NM_003494		2	4						2	4	---	---	---	---	-	71783123	C	-	71783123	7	5	430	1	0	1	0	1	0	0	0	0	4859	739	26	0	2362	0	DYSF	2	71783123	Frame_Shift_Del	DEL	C	TCGA-XJ-A9DK-01A-11D-A377-08		71783123	171416250	1	20724											
MYO7B	4648	broad.mit.edu	37	chr2	128393477	128393477	+	Frame_Shift_Del	DEL	A	A	-																															tgatgtcctcggaggagtggAaaaaggtccctggtcgggct																										TCGA-XJ-A9DK-01A-11D-A377-08	TCGA-XJ-A9DK-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd4e4ca0-0447-4148-8ee3-323010c60f2b	4c074125-47a4-4533-a8f6-a96d06f5e5b7	g.chr2:128393477delA	ENST00000409816.2	+	42	5955	c.5923delA	c.(5923-5925)aaafs	p.K1976fs	MYO7B_ENST00000428314.1_Frame_Shift_Del_p.K1976fs|MYO7B_ENST00000409090.1_Frame_Shift_Del_p.K829fs|LIMS2_ENST00000494613.1_5'Flank|MYO7B_ENST00000389524.4_Frame_Shift_Del_p.K1977fs			Q6PIF6	MYO7B_HUMAN	myosin VIIB	1976	FERM 2. {ECO:0000255|PROSITE- ProRule:PRU00084}.					extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		GGAGGAGTGGAAAAAGGTCCC	0.617																																						ENST00000389524.4																			0				breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75						c.(5926-5928)aafs		myosin VIIB							37	42	41					2																	128393477		2073	4184	6257	SO:0001589	frameshift_variant	4648					apical plasma membrane|myosin complex	actin binding|ATP binding|motor activity	g.chr2:128393477delA		CCDS46405.1	2q21.1	2011-09-27			ENSG00000169994	ENSG00000169994		"Myosins / Myosin superfamily : Class VII"	7607	protein-coding gene	gene with protein product		606541				8022818, 8884266	Standard	NM_001080527		Approved		uc002top.3	Q6PIF6	OTTHUMG00000153419	ENST00000409816.2:c.5923delA	2.37:g.128393477delA	ENSP00000386461:p.Lys1976fs					MYO7B_ENST00000409090.1_Frame_Shift_Del_p.K829fs|MYO7B_ENST00000428314.1_Frame_Shift_Del_p.K1976fs|MYO7B_ENST00000409816.2_Frame_Shift_Del_p.K1976fs	p.K1977fs			Q6PIF6	MYO7B_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0753)	43	5979	+	Colorectal(110;0.1)		1976			FERM 2.		Q14786|Q8TEE1	Frame_Shift_Del	DEL	ENST00000409816.2	37	c.5926delA	CCDS46405.1																																																																																				0.617	MYO7B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000331124.3	XM_291001		2	4						2	4	---	---	---	---	-	128393477	A	-	128393477	7	5	430	1	0	1	0	1	0	0	0	0	10083	247	9	0	6089	0	MYO7B	2	128393477	Frame_Shift_Del	DEL	A	TCGA-XJ-A9DK-01A-11D-A377-08	56610354	128393477	114805896	2	20725											
CHCHD6	84303	broad.mit.edu	37	chr3	126445989	126445989	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgctcccacatcttctacCtttggccttcaagatggcaa	8	12	6	15	0	3	1	1	0	2	1	4	1	4	1	4	2	2	2	4	2	3	4			TCGA-XJ-A9DK-01A-11D-A377-08	TCGA-XJ-A9DK-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd4e4ca0-0447-4148-8ee3-323010c60f2b	4c074125-47a4-4533-a8f6-a96d06f5e5b7	g.chr3:126445989C>A	ENST00000290913.3	+	2	249	c.156C>A	c.(154-156)acC>acA	p.T52T	CHCHD6_ENST00000508789.1_Silent_p.T52T	NM_032343.2	NP_115719.1	Q9BRQ6	MIC25_HUMAN	coiled-coil-helix-coiled-coil-helix domain containing 6	52					cellular response to DNA damage stimulus (GO:0006974)|cristae formation (GO:0042407)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)				endometrium(2)|large_intestine(3)|lung(3)	8						CATCTTCTACCTTTGGCCTTC	0.512																																						ENST00000508789.1																			0				endometrium(2)|large_intestine(3)|lung(3)	8						c.(154-156)acC>acA		coiled-coil-helix-coiled-coil-helix domain containing 6							117	112	114					3																	126445989		2203	4300	6503	SO:0001819	synonymous_variant	84303							g.chr3:126445989C>A	BC006123	CCDS3041.1	3q21.3	2012-04-17			ENSG00000159685	ENSG00000159685		"Coiled-coil-helix-coiled-coil-helix domain containing", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	28184	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 23", "coiled-coil-helix cristae morphology 1"	615634				17624330, 22228767	Standard	NM_032343		Approved	MGC13016, PPP1R23, CHCM1	uc003ejf.2	Q9BRQ6	OTTHUMG00000159601	ENST00000290913.3:c.156C>A	3.37:g.126445989C>A						CHCHD6_ENST00000290913.3_Silent_p.T52T	p.T52T			Q9BRQ6	CHCH6_HUMAN			2	228	+			52					D6R9U0|D6RIB4|H8Y0Y7	Silent	SNP	ENST00000290913.3	37	c.156C>A	CCDS3041.1																																																																																				0.512	CHCHD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356432.1	NM_032343		4	129	1	0	1.23904e-05	1	1.37671e-05	4	129					A	126445989	C	A	126445989	2	1	430	1	0	0	0	0	0	0	0	1	3320	668	24	5		5	CHCHD6	3	126445989	Silent	SNP	C	TCGA-XJ-A9DK-01A-11D-A377-08		126445989	71576441	3	20726											
RNF145	153830	broad.mit.edu	37	chr5	158630643	158630643	+	5'UTR	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	catgttgtttttttttttctTtttttttttcttggagaaga	5	27	6	3	0	2	2	0	0	2	2	2	3	2	2	0	1	0	2	0	1	1	12			TCGA-XJ-A9DK-01A-11D-A377-08	TCGA-XJ-A9DK-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd4e4ca0-0447-4148-8ee3-323010c60f2b	4c074125-47a4-4533-a8f6-a96d06f5e5b7	g.chr5:158630643T>C	ENST00000424310.2	-	0	342				RNF145_ENST00000518802.1_Missense_Mutation_p.K25E|RNF145_ENST00000521606.2_Missense_Mutation_p.K12E|RNF145_ENST00000520638.1_Missense_Mutation_p.K9E|RNF145_ENST00000274542.2_Missense_Mutation_p.K23E|RNF145_ENST00000519865.1_5'UTR	NM_001199383.1	NP_001186312.1	Q96MT1	RN145_HUMAN	ring finger protein 145							integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30	Renal(175;0.00196)	Medulloblastoma(196;0.0523)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			ttttttttctttttttttttc	0.363																																						ENST00000274542.2																			0				endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30						c.(67-69)Aag>Gag		ring finger protein 145							31	34	33					5																	158630643		2203	4300	6503	SO:0001623	5_prime_UTR_variant	153830					integral to membrane	zinc ion binding	g.chr5:158630643T>C	BC042684	CCDS4344.1, CCDS56390.1, CCDS56391.1, CCDS56392.1, CCDS56393.1	5q33.3	2013-01-09			ENSG00000145860	ENSG00000145860		"RING-type (C3HC4) zinc fingers"	20853	protein-coding gene	gene with protein product							Standard	NM_001199380		Approved	FLJ31951	uc003lxo.2	Q96MT1	OTTHUMG00000130306	ENST00000424310.2:c.-18A>G	5.37:g.158630643T>C						RNF145_ENST00000518802.1_Missense_Mutation_p.K25E|RNF145_ENST00000519865.1_5'UTR|RNF145_ENST00000521606.2_Missense_Mutation_p.K12E|RNF145_ENST00000520638.1_Missense_Mutation_p.K9E|RNF145_ENST00000424310.2_5'UTR	p.K23E	NM_144726.2	NP_653327.1	Q96MT1	RN145_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		2	93	-	Renal(175;0.00196)	Medulloblastoma(196;0.0523)	0					B7Z903|B7Z949|E7EVI7|Q8IVP7	Missense_Mutation	SNP	ENST00000424310.2	37	c.67A>G	CCDS56390.1	.	.	.	.	.	.	.	.	.	.	T	5.631	0.301084	0.10678	.	.	ENSG00000145860	ENST00000274542;ENST00000521606;ENST00000413445;ENST00000518802;ENST00000520638	T;T;T;T;T	0.77098	-1.06;-1.04;-1.04;-1.07;-1.03	2.6	1.39	0.22231	.	6.604780	0.00166	N	0.000010	T	0.60663	0.2286	N	0.08118	0	0.09310	N	0.999998	B;B;B;B;B	0.10296	0.003;0.001;0.001;0.001;0.001	B;B;B;B;B	0.04013	0.001;0.0;0.001;0.001;0.001	T	0.51553	-0.8691	10	0.54805	T	0.06	.	4.5107	0.11910	0.0:0.1769:0.0:0.8231	.	11;12;9;25;23	E7EW26;B7Z949;B7Z903;E7EVI7;Q96MT1-2	.;.;.;.;.	E	23;11;12;25;9	ENSP00000274542:K23E;ENSP00000430753:K11E;ENSP00000445115:K12E;ENSP00000430955:K25E;ENSP00000429071:K9E	ENSP00000274542:K23E	K	-	1	0	RNF145	158563221	0.001000	0.12720	0.000000	0.03702	0.003000	0.03518	0.077000	0.14738	0.083000	0.17047	0.397000	0.26171	AAG		0.363	RNF145-002	PUTATIVE	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374048.1	NM_144726		3	44	0	0	0	1	0	3	44					C	158630643	T	C	158630643	1	2	430	0	1	0	0	0	0	0	0	0	13447	1850	64	4		4	RNF145	5	158630643	5'UTR	SNP	T	TCGA-XJ-A9DK-01A-11D-A377-08		158630643	22284617	4	20727											
GABRG2	2566	broad.mit.edu	37	chr5	161580306	161580306	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccaaaatggactcctatgctCggatcttcttccccactgcc	8	11	6	16	1	2	0	0	0	2	0	5	2	4	2	5	2	2	1	5	2	3	3			TCGA-XJ-A9DK-01A-11D-A377-08	TCGA-XJ-A9DK-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd4e4ca0-0447-4148-8ee3-323010c60f2b	4c074125-47a4-4533-a8f6-a96d06f5e5b7	g.chr5:161580306C>T	ENST00000361925.4	+	9	1556	c.1336C>T	c.(1336-1338)Cgg>Tgg	p.R446W	GABRG2_ENST00000393933.4_Missense_Mutation_p.R351W|GABRG2_ENST00000414552.2_Missense_Mutation_p.R494W|GABRG2_ENST00000356592.3_Missense_Mutation_p.R454W			P18507	GBRG2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 2	446					adult behavior (GO:0030534)|cellular response to histamine (GO:0071420)|chloride transmembrane transport (GO:1902476)|gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|post-embryonic development (GO:0009791)|synaptic transmission (GO:0007268)|synaptic transmission, GABAergic (GO:0051932)|transmembrane transport (GO:0055085)|transport (GO:0006810)	axon (GO:0030424)|cell junction (GO:0030054)|chloride channel complex (GO:0034707)|cytoplasm (GO:0005737)|dendrite membrane (GO:0032590)|GABA-A receptor complex (GO:1902711)|inhibitory synapse (GO:0060077)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	benzodiazepine receptor activity (GO:0008503)|chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(15)|lung(24)|ovary(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	62	Renal(175;0.000319)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0734)|OV - Ovarian serous cystadenocarcinoma(192;0.135)|Epithelial(171;0.136)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Ginkgo biloba(DB01381)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	CTCCTATGCTCGGATCTTCTT	0.463																																						ENST00000356592.3																			0				NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(15)|lung(24)|ovary(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	62						c.(1360-1362)Cgg>Tgg		gamma-aminobutyric acid (GABA) A receptor, gamma 2							272	274	273					5																	161580306		2203	4300	6503	SO:0001583	missense	0				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding	g.chr5:161580306C>T		CCDS4358.1, CCDS4359.1, CCDS47333.1	5q34	2012-06-22			ENSG00000113327	ENSG00000113327		"GABA receptors", "Ligand-gated ion channels / GABA(A) receptors"	4087	protein-coding gene	gene with protein product	"GABA(A) receptor, gamma 2"	137164					Standard	NM_198904		Approved		uc010jjc.3	P18507	OTTHUMG00000130350	ENST00000361925.4:c.1336C>T	5.37:g.161580306C>T	ENSP00000354651:p.Arg446Trp					GABRG2_ENST00000361925.4_Missense_Mutation_p.R446W|GABRG2_ENST00000414552.2_Missense_Mutation_p.R494W|GABRG2_ENST00000393933.4_Missense_Mutation_p.R351W	p.R454W	NM_000816.3|NM_198904.2	NP_000807.2|NP_944494.1	P18507	GBRG2_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0734)|OV - Ovarian serous cystadenocarcinoma(192;0.135)|Epithelial(171;0.136)	10	1820	+	Renal(175;0.000319)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	446					F5HB82|Q6GRL6|Q6PCC3|Q9UDB3|Q9UN15	Missense_Mutation	SNP	ENST00000361925.4	37	c.1360C>T	CCDS4358.1	.	.	.	.	.	.	.	.	.	.	C	19.50	3.839572	0.71488	.	.	ENSG00000113327	ENST00000356592;ENST00000414552;ENST00000361925;ENST00000393933	D;D;D;D	0.86366	-2.11;-2.11;-2.11;-2.11	5.95	5.07	0.68467	Neurotransmitter-gated ion-channel transmembrane domain (1);	0.000000	0.85682	D	0.000000	D	0.95564	0.8558	H	0.95816	3.725	0.80722	D	1	D;D;D	0.89917	1.0;0.998;1.0	D;P;D	0.97110	1.0;0.812;1.0	D	0.96915	0.9670	10	0.87932	D	0	.	16.4014	0.83642	0.1327:0.8673:0.0:0.0	.	494;446;454	F5HB82;P18507;P18507-2	.;GBRG2_HUMAN;.	W	454;494;446;351	ENSP00000349000:R454W;ENSP00000410732:R494W;ENSP00000354651:R446W;ENSP00000377510:R351W	ENSP00000349000:R454W	R	+	1	2	GABRG2	161512884	1.000000	0.71417	0.930000	0.37139	0.991000	0.79684	4.676000	0.61627	1.483000	0.48342	0.655000	0.94253	CGG		0.463	GABRG2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252706.1			8	142	0	0	0	1	0	8	142					T	161580306	C	T	161580306	3	4	430	1	0	0	0	0	1	0	0	0	6172	875	31	2	1522	2	GABRG2	5	161580306	Missense_Mutation	SNP	C	TCGA-XJ-A9DK-01A-11D-A377-08	2949663	161580306	19334954	5	20728											
HIST1H2AD	3013	broad.mit.edu	37	chr6	26199153	26199153	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggatgttgggcagaacacCgccctgagcaattgtgactt	9	10	12	10	1	0	3	0	2	0	1	0	4	0	4	2	2	2	3	2	2	2	3			TCGA-XJ-A9DK-01A-11D-A377-08	TCGA-XJ-A9DK-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd4e4ca0-0447-4148-8ee3-323010c60f2b	4c074125-47a4-4533-a8f6-a96d06f5e5b7	g.chr6:26199153C>A	ENST00000341023.1	-	1	318	c.319G>T	c.(319-321)Ggt>Tgt	p.G107C	HIST1H3D_ENST00000356476.2_5'Flank|HIST1H2BF_ENST00000359985.1_5'Flank|HIST1H3D_ENST00000377831.5_5'UTR	NM_021065.2	NP_066409.1	P20671	H2A1D_HUMAN	histone cluster 1, H2ad	107						extracellular vesicular exosome (GO:0070062)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)	6		all_hematologic(11;0.196)				GGCAGAACACCGCCCTGAGCA	0.522																																						ENST00000341023.1																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)	6						c.(319-321)Ggt>Tgt		histone cluster 1, H2ad							134	119	124					6																	26199153		2203	4300	6503	SO:0001583	missense	3013				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr6:26199153C>A	Z80776	CCDS4591.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000196866	ENSG00000196866		"Histones / Replication-dependent"	4729	protein-coding gene	gene with protein product		602792	"H2A histone family, member G", "histone 1, H2ad"	H2AFG		9119399, 12408966	Standard	NM_021065		Approved	H2A/g, H2A.3	uc003ngw.4	P20671	OTTHUMG00000014437	ENST00000341023.1:c.319G>T	6.37:g.26199153C>A	ENSP00000341094:p.Gly107Cys					HIST1H3D_ENST00000377831.5_5'UTR	p.G107C	NM_021065.2	NP_066409.1	P20671	H2A1D_HUMAN			1	318	-		all_hematologic(11;0.196)	107					A0PK91|P57754|Q6FGY6	Missense_Mutation	SNP	ENST00000341023.1	37	c.319G>T	CCDS4591.1	.	.	.	.	.	.	.	.	.	.	.	14.99	2.699216	0.48307	.	.	ENSG00000196866	ENST00000341023	T	0.54866	0.55	4.82	4.82	0.62117	Histone-fold (2);Histone H2A (2);	0.000000	0.43919	U	0.000512	T	0.75095	0.3803	M	0.92026	3.265	0.47949	D	0.999552	D	0.89917	1.0	D	0.91635	0.999	T	0.81931	-0.0707	10	0.87932	D	0	.	17.2301	0.86982	0.0:1.0:0.0:0.0	.	107	P20671	H2A1D_HUMAN	C	107	ENSP00000341094:G107C	ENSP00000341094:G107C	G	-	1	0	HIST1H2AD	26307132	1.000000	0.71417	0.989000	0.46669	0.239000	0.25481	7.626000	0.83164	2.373000	0.80994	0.655000	0.94253	GGT		0.522	HIST1H2AD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040100.1	NM_021065		4	137	1	0	0.150653	1	0.150653	4	137					A	26199153	C	A	26199153	3	1	430	1	0	0	0	0	1	0	0	0	7131	652	23	5	77	5	HIST1H2AD	6	26199153	Missense_Mutation	SNP	C	TCGA-XJ-A9DK-01A-11D-A377-08		26199153	144915914	6	20729											
RNGTT	8732	broad.mit.edu	37	chr6	89673074	89673074	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gtccaggttacctgccaccgGctggccgcgccggggacagt	5	6	15	15	4	0	0	0	0	0	0	1	1	1	1	6	5	2	2	6	5	1	1			TCGA-XJ-A9DK-01A-11D-A377-08	TCGA-XJ-A9DK-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd4e4ca0-0447-4148-8ee3-323010c60f2b	4c074125-47a4-4533-a8f6-a96d06f5e5b7	g.chr6:89673074G>A	ENST00000369485.4	-	1	241	c.55C>T	c.(55-57)Ccg>Tcg	p.P19S	RNGTT_ENST00000265607.6_Missense_Mutation_p.P19S|RNGTT_ENST00000538899.1_5'UTR|AL079342.1_ENST00000369474.1_5'Flank|RNGTT_ENST00000369475.3_Missense_Mutation_p.P19S	NM_003800.3	NP_003791.3	O60942	MCE1_HUMAN	RNA guanylyltransferase and 5'-phosphatase	19	TPase.				7-methylguanosine mRNA capping (GO:0006370)|gene expression (GO:0010467)|RNA processing (GO:0006396)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	GTP binding (GO:0005525)|mRNA guanylyltransferase activity (GO:0004484)|polynucleotide 5'-phosphatase activity (GO:0004651)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)|RNA guanylyltransferase activity (GO:0008192)|triphosphatase activity (GO:0050355)			endometrium(1)|large_intestine(7)|lung(6)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	21		all_cancers(76;4.07e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.79e-07)|all_epithelial(107;6.86e-05)		BRCA - Breast invasive adenocarcinoma(108;0.151)		CCTGCCACCGGCTGGCCGCGC	0.667																																						ENST00000369485.4																			0				endometrium(1)|large_intestine(7)|lung(6)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	21						c.(55-57)Ccg>Tcg		RNA guanylyltransferase and 5'-phosphatase							25	29	28					6																	89673074		2198	4294	6492	SO:0001583	missense	8732				interspecies interaction between organisms|mRNA capping|transcription from RNA polymerase II promoter|viral reproduction	nucleoplasm	GTP binding|mRNA guanylyltransferase activity|polynucleotide 5'-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr6:89673074G>A	AF025654	CCDS5017.1	6q16	2011-06-09			ENSG00000111880	ENSG00000111880	2.7.7.50	"Protein tyrosine phosphatases / Class I Cys-based PTPs : Atypical dual specificity phosphatases"	10073	protein-coding gene	gene with protein product		603512				9828141, 9512541	Standard	NM_001286428		Approved	HCE, HCE1, hCAP	uc003pmr.2	O60942	OTTHUMG00000015190	ENST00000369485.4:c.55C>T	6.37:g.89673074G>A	ENSP00000358497:p.Pro19Ser					RNGTT_ENST00000538899.1_5'UTR|RNGTT_ENST00000369475.3_Missense_Mutation_p.P19S|RNGTT_ENST00000265607.6_Missense_Mutation_p.P19S	p.P19S	NM_003800.3	NP_003791.3	O60942	MCE1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.151)	1	241	-		all_cancers(76;4.07e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.79e-07)|all_epithelial(107;6.86e-05)	19			TPase.		E1P513|E1P514|O43483|O60257|O60351|Q5TCW8|Q8WUM8	Missense_Mutation	SNP	ENST00000369485.4	37	c.55C>T	CCDS5017.1	.	.	.	.	.	.	.	.	.	.	G	7.202	0.593696	0.13875	.	.	ENSG00000111880	ENST00000369485;ENST00000265607;ENST00000369475	T;T;T	0.30448	1.96;1.96;1.53	4.02	4.02	0.46733	.	0.174629	0.51477	D	0.000089	T	0.11324	0.0276	L	0.47716	1.5	0.80722	D	1	B;B;B	0.14805	0.011;0.01;0.006	B;B;B	0.16289	0.007;0.015;0.007	T	0.04320	-1.0960	10	0.09338	T	0.73	-2.0705	11.8451	0.52378	0.0:0.0:1.0:0.0	.	19;19;19	Q5TCW7;O60942-2;O60942	.;.;MCE1_HUMAN	S	19	ENSP00000358497:P19S;ENSP00000265607:P19S;ENSP00000358487:P19S	ENSP00000265607:P19S	P	-	1	0	RNGTT	89729793	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.076000	0.57591	2.258000	0.74832	0.491000	0.48974	CCG		0.667	RNGTT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041469.1			3	59	0	0	0	1	0	3	59					A	89673074	G	A	89673074	3	1	430	1	0	0	0	0	1	0	0	0	13503	1203	42	3	1802	3	RNGTT	6	89673074	Missense_Mutation	SNP	G	TCGA-XJ-A9DK-01A-11D-A377-08	63473921	89673074	81441993	7	20730											
ARID1B	57492	broad.mit.edu	37	chr6	157502129	157502129	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	agctcctccaccactactggGgagaagatcacgaaggtgta	12	7	11	11	1	1	2	1	0	0	2	3	4	3	2	3	3	2	2	3	3	4	2			TCGA-XJ-A9DK-01A-11D-A377-08	TCGA-XJ-A9DK-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd4e4ca0-0447-4148-8ee3-323010c60f2b	4c074125-47a4-4533-a8f6-a96d06f5e5b7	g.chr6:157502129G>A	ENST00000350026.5	+	11	3124	c.3123G>A	c.(3121-3123)ggG>ggA	p.G1041G	ARID1B_ENST00000478761.2_3'UTR|ARID1B_ENST00000275248.4_Silent_p.G1036G|ARID1B_ENST00000367148.1_Silent_p.G1094G|ARID1B_ENST00000346085.5_Silent_p.G1054G	NM_017519.2	NP_059989.2	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	1041					chromatin-mediated maintenance of transcription (GO:0048096)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)			NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		CCACTACTGGGGAGAAGATCA	0.552																																						ENST00000346085.5																			0				NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81						c.(3160-3162)ggG>ggA		AT rich interactive domain 1B (SWI1-like)							67	55	59					6																	157502129		2203	4296	6499	SO:0001819	synonymous_variant	57492				chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity	g.chr6:157502129G>A	AF521671	CCDS5251.1, CCDS5251.2, CCDS55072.1	6q25.3	2014-09-17			ENSG00000049618	ENSG00000049618		"-"	18040	protein-coding gene	gene with protein product		614556					Standard	NM_017519		Approved	KIAA1235, ELD/OSA1, p250R, BAF250b, DAN15, 6A3-5	uc003qqo.3	Q8NFD5	OTTHUMG00000015890	ENST00000350026.5:c.3123G>A	6.37:g.157502129G>A						ARID1B_ENST00000478761.1_3'UTR|ARID1B_ENST00000275248.4_Silent_p.G1036G|ARID1B_ENST00000350026.5_Silent_p.G1041G|ARID1B_ENST00000367148.1_Silent_p.G1094G	p.G1054G	NM_020732.3	NP_065783.3	Q8NFD5	ARI1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)	12	3163	+		Breast(66;0.000162)|Ovarian(120;0.0265)	1041			ARID.		Q5JRD1|Q5VYC4|Q8IZY8|Q8TEV0|Q8TF02|Q99491|Q9ULI5	Silent	SNP	ENST00000350026.5	37	c.3162G>A	CCDS5251.2																																																																																				0.552	ARID1B-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000372723.1	NM_020732		3	46	0	0	0	1	0	3	46					A	157502129	G	A	157502129	2	1	430	1	0	0	0	0	0	0	0	1	914	1219	43	3		3	ARID1B	6	157502129	Silent	SNP	G	TCGA-XJ-A9DK-01A-11D-A377-08	67829055	157502129	13612938	8	20731											
MKRN1	23608	broad.mit.edu	37	chr7	140158931	140158931	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggcactctcccactgcagcaTaggggcacagctgcttcttt	7	10	10	14	0	2	0	0	0	2	0	3	0	2	0	1	3	4	6	1	3	1	3			TCGA-XJ-A9DK-01A-11D-A377-08	TCGA-XJ-A9DK-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd4e4ca0-0447-4148-8ee3-323010c60f2b	4c074125-47a4-4533-a8f6-a96d06f5e5b7	g.chr7:140158931T>C	ENST00000255977.2	-	4	871	c.647A>G	c.(646-648)tAt>tGt	p.Y216C	MKRN1_ENST00000481705.1_5'Flank|MKRN1_ENST00000474576.1_Missense_Mutation_p.Y152C|MKRN1_ENST00000480552.1_Intron|MKRN1_ENST00000437223.2_Intron|MKRN1_ENST00000443720.2_Missense_Mutation_p.Y216C	NM_013446.3	NP_038474.2	Q9UHC7	MKRN1_HUMAN	makorin ring finger protein 1	216					protein polyubiquitination (GO:0000209)		chromatin binding (GO:0003682)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	16	Melanoma(164;0.00956)					CACTGCAGCATAGGGGCACAG	0.562																																						ENST00000255977.2																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	16						c.(646-648)tAt>tGt		makorin ring finger protein 1							150	146	147					7																	140158931		2203	4300	6503	SO:0001583	missense	23608						ligase activity|nucleic acid binding|protein binding|zinc ion binding	g.chr7:140158931T>C	AF192784	CCDS5860.1, CCDS47725.1	7q34	2013-01-09	2008-08-13		ENSG00000133606	ENSG00000133606		"RING-type (C3HC4) zinc fingers"	7112	protein-coding gene	gene with protein product		607754				10843807	Standard	NM_013446		Approved	RNF61	uc003vvt.2	Q9UHC7	OTTHUMG00000157412	ENST00000255977.2:c.647A>G	7.37:g.140158931T>C	ENSP00000255977:p.Tyr216Cys					MKRN1_ENST00000480552.1_Intron|MKRN1_ENST00000443720.2_Missense_Mutation_p.Y216C|MKRN1_ENST00000437223.2_Intron|MKRN1_ENST00000474576.1_Missense_Mutation_p.Y152C	p.Y216C	NM_013446.3	NP_038474.2	Q9UHC7	MKRN1_HUMAN			4	871	-	Melanoma(164;0.00956)		216					A4D1T7|B3KXB4|Q256Y7|Q59G11|Q6GSF1|Q9H0G0|Q9UEZ7|Q9UHW2	Missense_Mutation	SNP	ENST00000255977.2	37	c.647A>G	CCDS5860.1	.	.	.	.	.	.	.	.	.	.	T	23.1	4.377298	0.82682	.	.	ENSG00000133606	ENST00000255977;ENST00000539898;ENST00000474576;ENST00000443720;ENST00000471104;ENST00000467513	T;T;T;T;T	0.56275	0.47;0.47;0.47;0.47;0.64	4.91	4.91	0.64330	Zinc finger, CCCH-type (3);	0.117488	0.64402	D	0.000013	T	0.62636	0.2444	M	0.88450	2.955	0.80722	D	1	B	0.25272	0.122	B	0.30105	0.111	T	0.67554	-0.5641	10	0.66056	D	0.02	.	14.7194	0.69294	0.0:0.0:0.0:1.0	.	216	Q9UHC7	MKRN1_HUMAN	C	216;152;152;216;152;152	ENSP00000255977:Y216C;ENSP00000417863:Y152C;ENSP00000416369:Y216C;ENSP00000418864:Y152C;ENSP00000418588:Y152C	ENSP00000255977:Y216C	Y	-	2	0	MKRN1	139805400	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.426000	0.80270	2.067000	0.61834	0.454000	0.30748	TAT		0.562	MKRN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348752.1	NM_013446		4	146	0	0	0	1	0	4	146					C	140158931	T	C	140158931	3	2	430	1	0	0	0	0	1	0	0	0	9606	1406	49	4	825	4	MKRN1	7	140158931	Missense_Mutation	SNP	T	TCGA-XJ-A9DK-01A-11D-A377-08		140158931	18979732	9	20732											
FAM86B2	653333	broad.mit.edu	37	chr8	12287957	12287957	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aggctccgtgtggacagcctCgtgctgggggcagacagagt	7	7	17	10	2	0	2	0	0	0	2	2	3	1	3	2	4	2	3	2	4	0	0	rs148629503		TCGA-XJ-A9DK-01A-11D-A377-08	TCGA-XJ-A9DK-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd4e4ca0-0447-4148-8ee3-323010c60f2b	4c074125-47a4-4533-a8f6-a96d06f5e5b7	g.chr8:12287957C>T	ENST00000262365.4	-	4	243	c.244G>A	c.(244-246)Gag>Aag	p.E82K	FAM86B2_ENST00000393715.3_Intron|FAM86B2_ENST00000351291.4_Intron|FAM86B2_ENST00000309608.5_Intron	NM_001137610.1	NP_001131082.1	P0C5J1	F86B2_HUMAN	family with sequence similarity 86, member B2	82										endometrium(1)|kidney(2)	3						TGGACAGCCTCGTGCTGGGGG	0.537																																						ENST00000262365.4																			0				endometrium(1)|kidney(2)	3						c.(244-246)Gag>Aag		family with sequence similarity 86, member B2							13	16	15					8																	12287957		689	1588	2277	SO:0001583	missense	653333							g.chr8:12287957C>T		CCDS59092.1	8p23.1	2011-07-01			ENSG00000145002	ENSG00000145002			32222	protein-coding gene	gene with protein product							Standard	NM_001137610		Approved		uc003wvt.4	P0C5J1	OTTHUMG00000165462	ENST00000262365.4:c.244G>A	8.37:g.12287957C>T	ENSP00000262365:p.Glu82Lys					FAM86B2_ENST00000309608.5_Intron|FAM86B2_ENST00000351291.4_Intron|FAM86B2_ENST00000393715.3_Intron	p.E82K	NM_001137610.1	NP_001131082.1	P0C5J1	F86B2_HUMAN			4	243	-			82						Missense_Mutation	SNP	ENST00000262365.4	37	c.244G>A	CCDS59092.1	.	.	.	.	.	.	.	.	.	.	-	13.25	2.180194	0.38511	.	.	ENSG00000145002	ENST00000262365	T	0.25414	1.8	1.16	1.16	0.20824	.	.	.	.	.	T	0.24661	0.0598	M	0.80982	2.52	0.80722	D	1	P	0.46395	0.877	B	0.36766	0.232	T	0.20940	-1.0260	9	0.72032	D	0.01	.	5.7399	0.18087	0.0:1.0:0.0:0.0	.	82	P0C5J1	F86B2_HUMAN	K	82	ENSP00000262365:E82K	ENSP00000262365:E82K	E	-	1	0	FAM86B2	12332328	0.994000	0.37717	0.994000	0.49952	0.123000	0.20343	2.765000	0.47621	0.945000	0.37605	0.162000	0.16502	GAG		0.537	FAM86B2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		XM_928336		9	47	0	0	0	1	0	9	47					T	12287957	C	T	12287957	3	4	430	1	0	0	0	0	1	0	0	0	5645	893	31	2	768	2	FAM86B2	8	12287957	Missense_Mutation	SNP	C	TCGA-XJ-A9DK-01A-11D-A377-08		12287957	134076065	10	20733											
CTSL1	1514	broad.mit.edu	37	chr9	90343270	90343270	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	atgaggcccccagatctgtgGattggagagagaaaggctac	12	7	14	8	0	1	4	0	1	1	3	1	7	1	5	2	4	1	1	2	4	2	2			TCGA-XJ-A9DK-01A-11D-A377-08	TCGA-XJ-A9DK-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd4e4ca0-0447-4148-8ee3-323010c60f2b	4c074125-47a4-4533-a8f6-a96d06f5e5b7	g.chr9:90343270G>T	ENST00000343150.5	+	4	1245	c.355G>T	c.(355-357)Gat>Tat	p.D119Y	CTSL_ENST00000340342.6_Missense_Mutation_p.D119Y|CTSL_ENST00000495822.1_Intron|CTSL_ENST00000342020.5_Missense_Mutation_p.D119Y			P07711	CATL1_HUMAN	cathepsin L	119					adaptive immune response (GO:0002250)|antigen processing and presentation (GO:0019882)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cellular response to thyroid hormone stimulus (GO:0097067)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|innate immune response (GO:0045087)|macrophage apoptotic process (GO:0071888)|proteolysis (GO:0006508)|proteolysis involved in cellular protein catabolic process (GO:0051603)|toll-like receptor signaling pathway (GO:0002224)	endolysosome lumen (GO:0036021)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)|nucleus (GO:0005634)	collagen binding (GO:0005518)|cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)|fibronectin binding (GO:0001968)|histone binding (GO:0042393)|proteoglycan binding (GO:0043394)										CAGATCTGTGGATTGGAGAGA	0.493																																						ENST00000343150.5																			0											c.(355-357)Gat>Tat		cathepsin L							64	61	62					9																	90343270		2203	4300	6503	SO:0001583	missense	1514							g.chr9:90343270G>T	X12451	CCDS6675.1	9q21.33	2013-06-27	2013-06-27	2013-06-27	ENSG00000135047	ENSG00000135047	3.4.22.15	"Cathepsins"	2537	protein-coding gene	gene with protein product		116880	"cathepsin L1"	CTSL1		8419312, 2835398	Standard	NM_145918		Approved	FLJ31037	uc004apk.4	P07711	OTTHUMG00000020149	ENST00000343150.5:c.355G>T	9.37:g.90343270G>T	ENSP00000345344:p.Asp119Tyr					CTSL_ENST00000342020.5_Missense_Mutation_p.D119Y|CTSL_ENST00000340342.6_Missense_Mutation_p.D119Y|CTSL_ENST00000495822.1_Intron	p.D119Y							4	1245	+								Q6IAV1|Q96QJ0	Missense_Mutation	SNP	ENST00000343150.5	37	c.355G>T	CCDS6675.1	.	.	.	.	.	.	.	.	.	.	G	17.71	3.455962	0.63401	.	.	ENSG00000135047	ENST00000343150;ENST00000340342;ENST00000342020	T;T;T	0.52526	0.66;0.66;0.66	4.51	2.62	0.31277	Peptidase C1A, papain C-terminal (2);	0.000000	0.85682	D	0.000000	T	0.81427	0.4820	H	0.99820	4.81	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.85536	0.1212	10	0.87932	D	0	.	11.0618	0.47953	0.1554:0.0:0.8446:0.0	.	119	P07711	CATL1_HUMAN	Y	119	ENSP00000345344:D119Y;ENSP00000365061:D119Y;ENSP00000340470:D119Y	ENSP00000365061:D119Y	D	+	1	0	CTSL1	89533090	1.000000	0.71417	0.637000	0.29366	0.696000	0.40369	6.881000	0.75584	0.487000	0.27698	0.655000	0.94253	GAT		0.493	CTSL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052936.1	NM_001912		6	69	1	0	0.0215528	1	0.0226871	6	69					T	90343270	G	T	90343270	3	4	430	1	0	0	0	0	1	0	0	0	4038	1174	41	5	365	5	CTSL1	9	90343270	Missense_Mutation	SNP	G	TCGA-XJ-A9DK-01A-11D-A377-08		90343270	50870161	11	20734											
C9orf125	84302	broad.mit.edu	37	chr9	104239325	104239325	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cagtgctgccccaggagagtCgccgcagcctccggaggagc	7	4	15	15	3	0	1	0	0	0	1	2	4	1	3	5	3	4	2	5	3	0	0	rs146931036		TCGA-XJ-A9DK-01A-11D-A377-08	TCGA-XJ-A9DK-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd4e4ca0-0447-4148-8ee3-323010c60f2b	4c074125-47a4-4533-a8f6-a96d06f5e5b7	g.chr9:104239325C>T	ENST00000374851.1	-	4	1197	c.50G>A	c.(49-51)cGa>cAa	p.R17Q	RP11-490D19.6_ENST00000425734.1_RNA|RP11-490D19.6_ENST00000450109.1_RNA|RP11-490D19.6_ENST00000431507.1_RNA|TMEM246_ENST00000374848.3_Missense_Mutation_p.R17Q|RP11-490D19.6_ENST00000424154.1_RNA|TMEM246_ENST00000374847.1_Missense_Mutation_p.R17Q			Q9BRR3	TM246_HUMAN	transmembrane protein 246	17						integral component of membrane (GO:0016021)											CCAGGAGAGTCGCCGCAGCCT	0.562																																						ENST00000374851.1																			0											c.(49-51)cGa>cAa		transmembrane protein 246		C	GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	32	35	34		50	4.7	1	9	dbSNP_134	34	0,8600		0,0,4300	no	missense	C9orf125	NM_032342.1	43	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	17/404	104239325	1,13005	2203	4300	6503	SO:0001583	missense	84302					integral to membrane		g.chr9:104239325C>T	BC006115	CCDS6757.1	9q31.1	2012-04-02	2012-04-02	2012-04-02	ENSG00000165152	ENSG00000165152			28180	protein-coding gene	gene with protein product			"chromosome 9 open reading frame 125"	C9orf125		12477932	Standard	NM_032342		Approved	MGC12992	uc004bbm.3	Q9BRR3	OTTHUMG00000020381	ENST00000374851.1:c.50G>A	9.37:g.104239325C>T	ENSP00000363984:p.Arg17Gln					RP11-490D19.6_ENST00000425734.1_RNA|TMEM246_ENST00000374848.3_Missense_Mutation_p.R17Q|RP11-490D19.6_ENST00000431507.1_RNA|RP11-490D19.6_ENST00000424154.1_RNA|TMEM246_ENST00000374847.1_Missense_Mutation_p.R17Q|RP11-490D19.6_ENST00000450109.1_RNA	p.R17Q			Q9BRR3	CI125_HUMAN			4	1197	-			17					Q49AQ4	Missense_Mutation	SNP	ENST00000374851.1	37	c.50G>A	CCDS6757.1	.	.	.	.	.	.	.	.	.	.	C	16.10	3.026051	0.54683	2.27E-4	0.0	ENSG00000165152	ENST00000374848;ENST00000374847;ENST00000374851	.	.	.	5.65	4.67	0.58626	.	0.800615	0.11155	N	0.593730	T	0.24509	0.0594	L	0.29908	0.895	0.34162	D	0.668813	P	0.50617	0.937	B	0.29077	0.098	T	0.23368	-1.0190	9	0.19590	T	0.45	-10.9028	12.5514	0.56229	0.1771:0.8229:0.0:0.0	.	17	Q9BRR3	CI125_HUMAN	Q	17	.	ENSP00000363980:R17Q	R	-	2	0	C9orf125	103279146	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	1.678000	0.37586	2.640000	0.89533	0.650000	0.86243	CGA		0.562	TMEM246-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053444.1	NM_032342		4	37	0	0	0	1	0	4	37					T	104239325	C	T	104239325	3	4	430	1	0	0	0	0	1	0	0	0	2454	884	31	2	1165	2	C9orf125	9	104239325	Missense_Mutation	SNP	C	TCGA-XJ-A9DK-01A-11D-A377-08	13896055	104239325	36974106	12	20735											
OR4A16	81327	broad.mit.edu	37	chr11	55111531	55111531	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atgttgaatcctttaatataCtcgttgagacaatcagagat	14	14	7	6	1	1	3	1	2	0	2	3	5	2	3	1	0	1	2	1	0	5	6	rs78253574		TCGA-XJ-A9DK-01A-11D-A377-08	TCGA-XJ-A9DK-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd4e4ca0-0447-4148-8ee3-323010c60f2b	4c074125-47a4-4533-a8f6-a96d06f5e5b7	g.chr11:55111531C>T	ENST00000314721.2	+	1	905	c.855C>T	c.(853-855)taC>taT	p.Y285Y		NM_001005274.1	NP_001005274.1	Q8NH70	O4A16_HUMAN	olfactory receptor, family 4, subfamily A, member 16	285						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.Y285*(1)		NS(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	51						CTTTAATATACTCGTTGAGAC	0.303																																						ENST00000314721.2																			1	Substitution - Nonsense(1)	p.Y285*(1)	upper_aerodigestive_tract(1)	NS(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	51						c.(853-855)taC>taT		olfactory receptor, family 4, subfamily A, member 16							64	61	62					11																	55111531		2201	4296	6497	SO:0001819	synonymous_variant	81327				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55111531C>T	AB065519	CCDS31499.1	11q11	2012-08-09			ENSG00000181961	ENSG00000181961		"GPCR / Class A : Olfactory receptors"	15153	protein-coding gene	gene with protein product							Standard	NM_001005274		Approved	OR4A16Q	uc010rie.2	Q8NH70	OTTHUMG00000166710	ENST00000314721.2:c.855C>T	11.37:g.55111531C>T							p.Y285Y	NM_001005274.1	NP_001005274.1	Q8NH70	O4A16_HUMAN			1	905	+			285					Q6IFL3	Silent	SNP	ENST00000314721.2	37	c.855C>T	CCDS31499.1																																																																																				0.303	OR4A16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391160.1	NM_001005274		3	42	0	0	0	1	0	3	42					T	55111531	C	T	55111531	2	4	430	1	0	0	0	0	0	0	0	1	11041	576	20	3		3	OR4A16	11	55111531	Silent	SNP	C	TCGA-XJ-A9DK-01A-11D-A377-08		55111531	79894985	13	20736											
SYT10	341359	broad.mit.edu	37	chr12	33529773	33529773	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attttggaggcattatggtgTggaaggtggtttaggagaag	10	13	17	1	0	0	1	0	0	0	1	0	4	0	3	0	7	0	2	0	7	4	5			TCGA-XJ-A9DK-01A-11D-A377-08	TCGA-XJ-A9DK-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd4e4ca0-0447-4148-8ee3-323010c60f2b	4c074125-47a4-4533-a8f6-a96d06f5e5b7	g.chr12:33529773T>A	ENST00000228567.3	-	7	1860	c.1564A>T	c.(1564-1566)Aca>Tca	p.T522S	SYT10_ENST00000535526.1_Missense_Mutation_p.T341S	NM_198992.3	NP_945343.1	Q6XYQ8	SYT10_HUMAN	synaptotagmin X	522					regulation of calcium ion-dependent exocytosis (GO:0017158)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|synaptic vesicle (GO:0008021)	metal ion binding (GO:0046872)|transporter activity (GO:0005215)			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(3)|skin(4)|urinary_tract(1)	42	Lung NSC(5;8.37e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0334)					CATTATGGTGTGGAAGGTGGT	0.408																																						ENST00000228567.3																			0				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(3)|skin(4)|urinary_tract(1)	42						c.(1564-1566)Aca>Tca		synaptotagmin X							139	136	137					12																	33529773		2203	4300	6503	SO:0001583	missense	341359					cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity	g.chr12:33529773T>A	AY198413	CCDS8732.1	12p11	2013-01-21			ENSG00000110975	ENSG00000110975		"Synaptotagmins"	19266	protein-coding gene	gene with protein product							Standard	NM_198992		Approved		uc001rll.1	Q6XYQ8	OTTHUMG00000169269	ENST00000228567.3:c.1564A>T	12.37:g.33529773T>A	ENSP00000228567:p.Thr522Ser					SYT10_ENST00000535526.1_Missense_Mutation_p.T341S	p.T522S	NM_198992.3	NP_945343.1	Q6XYQ8	SYT10_HUMAN			7	1860	-	Lung NSC(5;8.37e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0334)		522					Q495U2	Missense_Mutation	SNP	ENST00000228567.3	37	c.1564A>T	CCDS8732.1	.	.	.	.	.	.	.	.	.	.	T	13.30	2.196238	0.38806	.	.	ENSG00000110975	ENST00000228567;ENST00000535526	T;T	0.48201	0.98;0.82	4.73	4.73	0.59995	.	0.178982	0.25762	U	0.028470	T	0.30417	0.0764	N	0.20530	0.585	0.46458	D	0.999058	B	0.15473	0.013	B	0.08055	0.003	T	0.10222	-1.0639	10	0.08837	T	0.75	.	14.1138	0.65139	0.0:0.0:0.0:1.0	.	522	Q6XYQ8	SYT10_HUMAN	S	522;341	ENSP00000228567:T522S;ENSP00000438691:T341S	ENSP00000228567:T522S	T	-	1	0	SYT10	33421040	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	5.614000	0.67695	2.054000	0.61138	0.533000	0.62120	ACA		0.408	SYT10-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403222.1	NM_198992		3	40	0	0	0	1	0	3	40					A	33529773	T	A	33529773	3	1	430	1	0	0	0	0	1	0	0	0	15463	1696	59	5	11	5	SYT10	12	33529773	Missense_Mutation	SNP	T	TCGA-XJ-A9DK-01A-11D-A377-08		33529773	100322122	14	20737											
ADAMTS7	11173	broad.mit.edu	37	chr15	79058842	79058842	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggtgggggtggggagcggccGgcctggctaggccaagggct	4	5	23	9	2	0	0	0	0	0	0	0	1	0	1	3	10	1	2	3	10	2	1			TCGA-XJ-A9DK-01A-11D-A377-08	TCGA-XJ-A9DK-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd4e4ca0-0447-4148-8ee3-323010c60f2b	4c074125-47a4-4533-a8f6-a96d06f5e5b7	g.chr15:79058842G>A	ENST00000388820.4	-	19	3621	c.3411C>T	c.(3409-3411)gcC>gcT	p.A1137A	ADAMTS7_ENST00000566303.1_5'Flank	NM_014272.3	NP_055087.2	Q9UKP4	ATS7_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 7	1137					cellular response to BMP stimulus (GO:0071773)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of chondrocyte differentiation (GO:0032331)|proteolysis involved in cellular protein catabolic process (GO:0051603)	cell surface (GO:0009986)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						GGGAGCGGCCGGCCTGGCTAG	0.677																																						ENST00000388820.4																			0				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						c.(3409-3411)gcC>gcT		ADAM metallopeptidase with thrombospondin type 1 motif, 7							5	6	6					15																	79058842		1925	3931	5856	SO:0001819	synonymous_variant	11173				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr15:79058842G>A	AF140675	CCDS32303.1	15q25.1	2012-05-16	2005-08-19		ENSG00000136378	ENSG00000136378		"ADAM metallopeptidases with thrombospondin type 1 motif"	223	protein-coding gene	gene with protein product	"COMPase", "a disintegrin and metalloprotease with thrombospondin motifs-7 preproprotein"	605009	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 7"			10464288	Standard	NM_014272		Approved	ADAM-TS7, DKFZp434H204	uc002bej.4	Q9UKP4	OTTHUMG00000172907	ENST00000388820.4:c.3411C>T	15.37:g.79058842G>A							p.A1137A	NM_014272.3	NP_055087.2	Q9UKP4	ATS7_HUMAN			19	3621	-			1137					Q14F51|Q6P7J9	Silent	SNP	ENST00000388820.4	37	c.3411C>T	CCDS32303.1																																																																																				0.677	ADAMTS7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421331.1	NM_014272		3	12	0	0	0	1	0	3	12					A	79058842	G	A	79058842	2	1	430	1	0	0	0	0	0	0	0	1	271	1103	39	2		2	ADAMTS7	15	79058842	Silent	SNP	G	TCGA-XJ-A9DK-01A-11D-A377-08		79058842	23472550	15	20738											
LRRC50	123872	broad.mit.edu	37	chr16	84199466	84199466	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcagtgggagagcagggagcGgaagaagatcacagacagca	15	2	17	7	1	1	4	1	0	0	4	1	7	1	6	0	3	3	3	0	3	2	0	rs374704486		TCGA-XJ-A9DK-01A-11D-A377-08	TCGA-XJ-A9DK-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd4e4ca0-0447-4148-8ee3-323010c60f2b	4c074125-47a4-4533-a8f6-a96d06f5e5b7	g.chr16:84199466G>A	ENST00000378553.5	+	7	1065	c.941G>A	c.(940-942)cGg>cAg	p.R314Q	DNAAF1_ENST00000563818.1_3'UTR|DNAAF1_ENST00000334315.5_Missense_Mutation_p.R314Q	NM_178452.4	NP_848547.4	Q8NEP3	DAAF1_HUMAN	dynein, axonemal, assembly factor 1	314					axonemal dynein complex assembly (GO:0070286)|cilium morphogenesis (GO:0060271)|cilium movement (GO:0003341)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of liver left/right asymmetry (GO:0071910)|determination of pancreatic left/right asymmetry (GO:0035469)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|heart looping (GO:0001947)|inner dynein arm assembly (GO:0036159)|left/right pattern formation (GO:0060972)|lung development (GO:0030324)|motile cilium assembly (GO:0044458)|outer dynein arm assembly (GO:0036158)|regulation of cilium beat frequency (GO:0003356)	axoneme (GO:0005930)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	dynein binding (GO:0045502)			NS(1)|endometrium(7)|kidney(1)|large_intestine(6)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(4)|urinary_tract(1)	41						AGCAGGGAGCGGAAGAAGATC	0.532																																						ENST00000378553.5																			0				NS(1)|endometrium(7)|kidney(1)|large_intestine(6)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(4)|urinary_tract(1)	41						c.(940-942)cGg>cAg		dynein, axonemal, assembly factor 1		G	GLN/ARG	2,4398	4.2+/-10.8	0,2,2198	177	165	169		941	-7.3	0.4	16		169	0,8600		0,0,4300	no	missense	DNAAF1	NM_178452.4	43	0,2,6498	AA,AG,GG		0.0,0.0455,0.0154	benign	314/726	84199466	2,12998	2200	4300	6500	SO:0001583	missense	123872				axonemal dynein complex assembly|cilium morphogenesis	cilium axoneme|cytoplasm|spindle pole	dynein binding	g.chr16:84199466G>A	BC024009	CCDS10943.2	16q24.1	2012-05-03	2011-06-09	2011-06-09	ENSG00000154099	ENSG00000154099			30539	protein-coding gene	gene with protein product	"outer row dynein assembly 7 homolog (Chlamydomonas)"	613190	"leucine rich repeat containing 50"	LRRC50		19944405	Standard	NM_178452		Approved	FLJ25330, ODA7, CILD13	uc002fhl.4	Q8NEP3	OTTHUMG00000128517	ENST00000378553.5:c.941G>A	16.37:g.84199466G>A	ENSP00000367815:p.Arg314Gln					DNAAF1_ENST00000334315.5_Missense_Mutation_p.R314Q|DNAAF1_ENST00000563818.1_3'UTR	p.R314Q	NM_178452.4	NP_848547.4	Q8NEP3	DAAF1_HUMAN			7	1065	+			314					B4DJA3|Q69YI8|Q69YJ0|Q69YW5|Q96LP3|Q96MB6	Missense_Mutation	SNP	ENST00000378553.5	37	c.941G>A	CCDS10943.2	.	.	.	.	.	.	.	.	.	.	G	9.684	1.150022	0.21371	4.55E-4	0.0	ENSG00000154099	ENST00000334315;ENST00000378553	T;T	0.35048	1.33;1.73	5.66	-7.31	0.01441	.	0.400743	0.25842	N	0.027960	T	0.20901	0.0503	L	0.39566	1.225	0.30057	N	0.811268	P;B	0.34780	0.468;0.085	B;B	0.25291	0.059;0.014	T	0.00829	-1.1549	10	0.36615	T	0.2	-2.4457	14.9045	0.70709	0.63:0.0:0.37:0.0	.	62;314	Q8NEP3-2;Q8NEP3	.;DAAF1_HUMAN	Q	314	ENSP00000334593:R314Q;ENSP00000367815:R314Q	ENSP00000334593:R314Q	R	+	2	0	DNAAF1	82756967	0.958000	0.32768	0.381000	0.26106	0.090000	0.18270	-0.060000	0.11712	-1.653000	0.01500	-1.000000	0.02509	CGG		0.532	DNAAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250328.3	NM_178452		4	103	0	0	0	1	0	4	103					A	84199466	G	A	84199466	3	1	430	1	0	0	0	0	1	0	0	0	9009	1116	39	2	967	2	LRRC50	16	84199466	Missense_Mutation	SNP	G	TCGA-XJ-A9DK-01A-11D-A377-08		84199466	6155287	16	20739											
BAT2L2	23215	broad.mit.edu	37	chr1	171481317	171481318	+	Frame_Shift_Ins	INS	-	-	T																															atacttacaaggggaaatcaINSttagaaacacagaaaaccac																								rs150244117	byFrequency	TCGA-XJ-A9DQ-01A-11D-A377-08	TCGA-XJ-A9DQ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c1090d-e690-4db4-a8ed-fc1c352eb9e9	e67df746-03cd-41aa-a469-93b419fa7143	g.chr1:171481317_171481318insT	ENST00000338920.4	+	2	327_328	c.90_91insT	c.(91-93)ttafs	p.L31fs	PRRC2C_ENST00000426496.2_Frame_Shift_Ins_p.L31fs|PRRC2C_ENST00000476522.1_3'UTR|PRRC2C_ENST00000367742.3_Frame_Shift_Ins_p.L31fs|PRRC2C_ENST00000392078.3_Frame_Shift_Ins_p.L31fs	NM_015172.3	NP_055987.2	Q9Y520	PRC2C_HUMAN	proline-rich coiled-coil 2C	31					hematopoietic progenitor cell differentiation (GO:0002244)	membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)										AGGGGAAATCATTAGAAACACA	0.376																																						ENST00000367742.3																			0											c.(88-93)tctagafs		proline-rich coiled-coil 2C																																				SO:0001589	frameshift_variant	23215						protein C-terminus binding	g.chr1:171481317_171481318insT	AL096857	CCDS1296.2	1q24.3	2012-07-18	2010-12-09	2010-12-09	ENSG00000117523	ENSG00000117523			24903	protein-coding gene	gene with protein product			"BAT2 domain containing 1", "HLA-B associated transcript 2-like 2"	BAT2D1, BAT2L2		10470851, 12443540	Standard	NM_015172		Approved	KIAA1096, XTP2	uc010pmg.2	Q9Y520	OTTHUMG00000034665	ENST00000338920.4:c.92dupT	1.37:g.171481319_171481319dupT	ENSP00000343629:p.Leu31fs					PRRC2C_ENST00000338920.4_Frame_Shift_Ins_p.R31fs|PRRC2C_ENST00000392078.3_Frame_Shift_Ins_p.R31fs|PRRC2C_ENST00000426496.2_Frame_Shift_Ins_p.R31fs|PRRC2C_ENST00000476522.1_3'UTR	p.R31fs			Q9Y520	PRC2C_HUMAN			2	332_333	+			31					Q05DM8|Q49A39|Q6PD54|Q9H2N2|Q9HA05|Q9NSM8|Q9NXL3|Q9UF29|Q9UPQ6	Frame_Shift_Ins	INS	ENST00000338920.4	37	c.90_91insT	CCDS1296.2																																																																																				0.376	PRRC2C-010	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000314826.4	NM_015172		2	4						2	4	---	---	---	---	T	171481318	-	T	171481317	7	5	431	1	0	1	1	0	0	0	0	0	1321	204	8	0	92	0	BAT2L2	1	171481317	Frame_Shift_Ins	INS	-	TCGA-XJ-A9DQ-01A-11D-A377-08		171481317	77769304	1	20740											
PLXND1	23129	broad.mit.edu	37	chr3	129284742	129284742	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agcctgacctgtcgcgcaccGcaaagtccttctgctgctcc	6	9	9	17	3	1	1	0	1	1	0	4	1	3	1	5	0	3	4	5	0	1	1			TCGA-XJ-A9DQ-01A-11D-A377-08	TCGA-XJ-A9DQ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c1090d-e690-4db4-a8ed-fc1c352eb9e9	e67df746-03cd-41aa-a469-93b419fa7143	g.chr3:129284742G>A	ENST00000324093.4	-	24	4488	c.4310C>T	c.(4309-4311)gCg>gTg	p.A1437V	PLXND1_ENST00000393239.1_Missense_Mutation_p.A1437V	NM_015103.2	NP_055918	Q9Y4D7	PLXD1_HUMAN	plexin D1	1437					angiogenesis (GO:0001525)|axon guidance (GO:0007411)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|endothelial cell migration (GO:0043542)|outflow tract morphogenesis (GO:0003151)|patterning of blood vessels (GO:0001569)|positive regulation of protein binding (GO:0032092)|regulation of angiogenesis (GO:0045765)|regulation of cell migration (GO:0030334)|semaphorin-plexin signaling pathway (GO:0071526)|synapse assembly (GO:0007416)	integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)	protein domain specific binding (GO:0019904)|semaphorin receptor activity (GO:0017154)	p.A1437V(1)	PLXND1/TMCC1(4)	NS(1)|breast(1)|endometrium(4)|kidney(5)|large_intestine(17)|lung(28)|prostate(10)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	72						GTCGCGCACCGCAAAGTCCTT	0.582																																					Ovarian(97;366 1484 3738 22084 39045)	ENST00000393239.1																		PLXND1/TMCC1(4)	1	Substitution - Missense(1)	p.A1437V(1)	kidney(1)	NS(1)|breast(1)|endometrium(4)|kidney(5)|large_intestine(17)|lung(28)|prostate(10)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	72						c.(4309-4311)gCg>gTg		plexin D1							100	83	89					3																	129284742		2203	4300	6503	SO:0001583	missense	23129				axon guidance	integral to membrane|intracellular|plasma membrane		g.chr3:129284742G>A	AY116661	CCDS33854.1	3q21.3	2007-05-16			ENSG00000004399	ENSG00000004399		"Plexins"	9107	protein-coding gene	gene with protein product		604282				12412018	Standard	NM_015103		Approved	KIAA0620	uc003emx.2	Q9Y4D7	OTTHUMG00000159547	ENST00000324093.4:c.4310C>T	3.37:g.129284742G>A	ENSP00000317128:p.Ala1437Val					PLXND1_ENST00000324093.4_Missense_Mutation_p.A1437V	p.A1437V			Q9Y4D7	PLXD1_HUMAN			24	4488	-			1437					A7E2C6|C9JPZ6|Q6PJS9|Q8IZJ2|Q9BTQ2	Missense_Mutation	SNP	ENST00000324093.4	37	c.4310C>T	CCDS33854.1	.	.	.	.	.	.	.	.	.	.	G	24.9	4.586647	0.86851	.	.	ENSG00000004399	ENST00000324093;ENST00000393239	T;T	0.12879	2.64;2.64	4.86	3.99	0.46301	Plexin, cytoplasmic RasGAP domain (1);Rho GTPase activation protein (1);	0.179883	0.48286	D	0.000183	T	0.27524	0.0676	L	0.40543	1.245	0.58432	D	0.999996	D;B	0.76494	0.999;0.343	D;B	0.74348	0.983;0.145	T	0.01549	-1.1327	10	0.87932	D	0	.	13.3894	0.60813	0.0767:0.0:0.9233:0.0	.	32;1437	B4DRU3;Q9Y4D7	.;PLXD1_HUMAN	V	1437	ENSP00000317128:A1437V;ENSP00000376931:A1437V	ENSP00000317128:A1437V	A	-	2	0	PLXND1	130767432	1.000000	0.71417	0.357000	0.25798	0.948000	0.59901	6.352000	0.73027	1.037000	0.40024	0.563000	0.77884	GCG		0.582	PLXND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356132.4	NM_015103		3	22	0	0	0	1	0	3	22					A	129284742	G	A	129284742	3	1	431	1	0	0	0	0	1	0	0	0	12127	1087	38	1	1519	1	PLXND1	3	129284742	Missense_Mutation	SNP	G	TCGA-XJ-A9DQ-01A-11D-A377-08		129284742	68737688	2	20741											
HOXA5	3202	broad.mit.edu	37	chr7	27182685	27182685	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	catgacttatgtgcagcttgCgcatccaggggtagatctgg	8	11	13	9	1	1	2	0	1	1	1	2	2	2	2	1	3	3	4	1	3	2	3			TCGA-XJ-A9DQ-01A-11D-A377-08	TCGA-XJ-A9DQ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c1090d-e690-4db4-a8ed-fc1c352eb9e9	e67df746-03cd-41aa-a469-93b419fa7143	g.chr7:27182685C>T	ENST00000222726.3	-	1	602	c.542G>A	c.(541-543)cGc>cAc	p.R181H	HOXA-AS3_ENST00000521197.1_RNA|HOXA-AS3_ENST00000518848.1_RNA|HOXA3_ENST00000521401.1_5'Flank|HOXA5_ENST00000520854.1_5'Flank|RP1-170O19.22_ENST00000467897.2_RNA|HOXA6_ENST00000521478.1_5'Flank	NM_019102.3	NP_061975.2	P20719	HXA5_HUMAN	homeobox A5	181					anterior/posterior pattern specification (GO:0009952)|bronchiole development (GO:0060435)|cell migration (GO:0016477)|cell-cell signaling involved in mammary gland development (GO:0060764)|embryonic skeletal system morphogenesis (GO:0048704)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|intestinal epithelial cell maturation (GO:0060574)|lung alveolus development (GO:0048286)|lung goblet cell differentiation (GO:0060480)|lung-associated mesenchyme development (GO:0060484)|mammary gland alveolus development (GO:0060749)|mammary gland epithelial cell differentiation (GO:0060644)|mesenchymal-epithelial cell signaling (GO:0060638)|multicellular organism growth (GO:0035264)|negative regulation of angiogenesis (GO:0016525)|negative regulation of erythrocyte differentiation (GO:0045647)|positive regulation of apoptotic process (GO:0043065)|positive regulation of myeloid cell differentiation (GO:0045639)|positive regulation of receptor biosynthetic process (GO:0010870)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of mammary gland epithelial cell proliferation (GO:0033599)|respiratory system process (GO:0003016)|thyroid gland development (GO:0030878)|trachea cartilage morphogenesis (GO:0060535)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|large_intestine(2)|lung(12)|skin(1)	16						GTGCAGCTTGCGCATCCAGGG	0.677																																					Colon(119;75 2200 7557 42868)	ENST00000222726.3																			0				central_nervous_system(1)|large_intestine(2)|lung(12)|skin(1)	16						c.(541-543)cGc>cAc		homeobox A5							92	114	107					7																	27182685		2203	4300	6503	SO:0001583	missense	3202				negative regulation of angiogenesis|negative regulation of erythrocyte differentiation|positive regulation of apoptosis|positive regulation of myeloid cell differentiation|positive regulation of receptor biosynthetic process|positive regulation of transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:27182685C>T		CCDS5406.1	7p15.2	2011-06-20	2005-12-22		ENSG00000106004	ENSG00000106004		"Homeoboxes / ANTP class : HOXL subclass"	5106	protein-coding gene	gene with protein product		142952	"homeo box A5"	HOX1C, HOX1		1973146, 1358459	Standard	NM_019102		Approved		uc003syn.2	P20719	OTTHUMG00000023214	ENST00000222726.3:c.542G>A	7.37:g.27182685C>T	ENSP00000222726:p.Arg181His					HOXA3_ENST00000467897.2_Intron|HOXA-AS3_ENST00000521197.1_RNA|HOXA-AS3_ENST00000518848.1_RNA	p.R181H	NM_019102.3	NP_061975.2	P20719	HXA5_HUMAN			1	602	-			181					A4D179|O43367|Q96CY6	Missense_Mutation	SNP	ENST00000222726.3	37	c.542G>A	CCDS5406.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.948206	0.73787	.	.	ENSG00000106004	ENST00000222726	D	0.95656	-3.77	5.53	5.53	0.82687	Homeodomain-like (1);Homeobox protein, antennapedia type, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.97898	0.9309	M	0.85462	2.755	0.80722	D	1	D	0.89917	1.0	D	0.71870	0.975	D	0.98528	1.0626	10	0.87932	D	0	.	19.0547	0.93058	0.0:1.0:0.0:0.0	.	181	P20719	HXA5_HUMAN	H	181	ENSP00000222726:R181H	ENSP00000222726:R181H	R	-	2	0	HOXA5	27149210	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.448000	0.80631	2.606000	0.88127	0.591000	0.81541	CGC		0.677	HOXA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358705.1			4	219	0	0	0	1	0	4	219					T	27182685	C	T	27182685	3	4	431	1	0	0	0	0	1	0	0	0	7295	768	27	1	278	1	HOXA5	7	27182685	Missense_Mutation	SNP	C	TCGA-XJ-A9DQ-01A-11D-A377-08		27182685	131955978	3	20742											
TLE4	7091	broad.mit.edu	37	chr9	82337508	82337508	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tgtgctgtcgctcaagtttgCccattgtggtaagcaagcac	8	12	11	10	1	1	0	1	0	0	0	2	0	1	0	1	1	4	6	1	1	3	3			TCGA-XJ-A9DQ-01A-11D-A377-08	TCGA-XJ-A9DQ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c1090d-e690-4db4-a8ed-fc1c352eb9e9	e67df746-03cd-41aa-a469-93b419fa7143	g.chr9:82337508C>T	ENST00000376552.2	+	18	3147	c.2129C>T	c.(2128-2130)gCc>gTc	p.A710V	TLE4_ENST00000376520.4_Missense_Mutation_p.A742V|TLE4_ENST00000376534.4_Missense_Mutation_p.A347V|TLE4_ENST00000265284.6_Missense_Mutation_p.A685V|TLE4_ENST00000376544.3_Missense_Mutation_p.A641V|TLE4_ENST00000376537.4_Missense_Mutation_p.A742V	NM_007005.3	NP_008936.2	Q04727	TLE4_HUMAN	transducin-like enhancer of split 4	710					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|Wnt signaling pathway (GO:0016055)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|transcription corepressor activity (GO:0003714)			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	39						CTCAAGTTTGCCCATTGTGGT	0.453																																						ENST00000376520.4																			0				breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	39						c.(2224-2226)gCc>gTc		transducin-like enhancer of split 4 (E(sp1) homolog, Drosophila)							131	127	128					9																	82337508		2020	4202	6222	SO:0001583	missense	7091							g.chr9:82337508C>T	M99439	CCDS43837.1, CCDS65069.1, CCDS65070.1, CCDS75851.1	9q21.32	2014-03-07	2014-03-07		ENSG00000106829	ENSG00000106829		"WD repeat domain containing"	11840	protein-coding gene	gene with protein product		605132	"transducin-like enhancer of split 4, homolog of Drosophila E(sp1)", "transducin-like enhancer of split 4 (E(sp1) homolog, Drosophila)"			8365415	Standard	XM_005252167		Approved	E(spI), ESG, GRG4	uc004alc.3	Q04727	OTTHUMG00000020072	ENST00000376552.2:c.2129C>T	9.37:g.82337508C>T	ENSP00000365735:p.Ala710Val					TLE4_ENST00000376537.4_Missense_Mutation_p.A742V|TLE4_ENST00000376552.2_Missense_Mutation_p.A710V|TLE4_ENST00000265284.6_Missense_Mutation_p.A685V|TLE4_ENST00000376544.3_Missense_Mutation_p.A641V|TLE4_ENST00000376534.4_Missense_Mutation_p.A347V	p.A742V			O60756	BCE1_HUMAN			19	3053	+			49					F8W6T6|Q3ZCS1|Q5T1Y2|Q6PCB3|Q9BZ07|Q9BZ08|Q9BZ09|Q9NSL3|Q9ULF9	Missense_Mutation	SNP	ENST00000376552.2	37	c.2225C>T	CCDS43837.1	.	.	.	.	.	.	.	.	.	.	C	36	5.837413	0.97009	.	.	ENSG00000106829	ENST00000376552;ENST00000376544;ENST00000376520;ENST00000376537;ENST00000376534;ENST00000265284	T;T;T;T;T;T	0.61392	0.11;0.11;0.11;0.11;0.11;0.11	6.17	6.17	0.99709	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.80105	0.4562	M	0.82923	2.615	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;0.999;1.0	D;D;D;D	0.81914	0.994;0.94;0.966;0.995	T	0.80661	-0.1283	10	0.87932	D	0	-24.4925	20.8794	0.99867	0.0:1.0:0.0:0.0	.	685;641;742;710	F8W6T6;Q04727-2;Q04727-3;Q04727	.;.;.;TLE4_HUMAN	V	710;641;742;742;347;685	ENSP00000365735:A710V;ENSP00000365727:A641V;ENSP00000365703:A742V;ENSP00000365720:A742V;ENSP00000365717:A347V;ENSP00000265284:A685V	ENSP00000265284:A685V	A	+	2	0	TLE4	81527328	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	7.818000	0.86416	2.941000	0.99782	0.655000	0.94253	GCC		0.453	TLE4-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052792.4	XM_212237		3	47	0	0	0	1	0	3	47					T	82337508	C	T	82337508	3	4	431	1	0	0	0	0	1	0	0	0	15938	739	26	3	2199	3	TLE4	9	82337508	Missense_Mutation	SNP	C	TCGA-XJ-A9DQ-01A-11D-A377-08		82337508	58875923	4	20743											
NSUN6	221078	broad.mit.edu	37	chr10	18903472	18903472	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aatacttttgttccatcaaaTtctttggctcctttcttaca	9	19	3	10	0	3	0	1	0	2	0	5	0	5	0	2	1	2	2	2	1	4	8			TCGA-XJ-A9DQ-01A-11D-A377-08	TCGA-XJ-A9DQ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c1090d-e690-4db4-a8ed-fc1c352eb9e9	e67df746-03cd-41aa-a469-93b419fa7143	g.chr10:18903472T>G	ENST00000377304.4	-	5	910	c.492A>C	c.(490-492)gaA>gaC	p.E164D		NM_182543.2	NP_872349.1	Q8TEA1	NSUN6_HUMAN	NOP2/Sun domain family, member 6	164	PUA. {ECO:0000255|PROSITE- ProRule:PRU00161}.						methyltransferase activity (GO:0008168)|RNA binding (GO:0003723)			endometrium(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	15						TTCCATCAAATTCTTTGGCTC	0.348																																						ENST00000377304.4																			0				endometrium(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	15						c.(490-492)gaA>gaC		NOP2/Sun domain family, member 6							79	75	77					10																	18903472		2203	4300	6503	SO:0001583	missense	221078						methyltransferase activity|RNA binding	g.chr10:18903472T>G	BC035778	CCDS7130.1	10p13	2014-06-23	2009-11-23	2004-08-26	ENSG00000241058	ENSG00000241058		"NOP2/Sun domain containing"	23529	protein-coding gene	gene with protein product			"NOL1/NOP2/Sun domain family 6", "NOL1/NOP2/Sun domain family, member 6", "ARL5B antisense RNA 1"	NOPD1, ARL5B-AS1			Standard	XM_005252394		Approved	FLJ23743	uc010qcp.1	Q8TEA1	OTTHUMG00000017767	ENST00000377304.4:c.492A>C	10.37:g.18903472T>G	ENSP00000366519:p.Glu164Asp						p.E164D	NM_182543.2	NP_872349.1	Q8TEA1	NSUN6_HUMAN			5	910	-			164			PUA.		B0YJ54	Missense_Mutation	SNP	ENST00000377304.4	37	c.492A>C	CCDS7130.1	.	.	.	.	.	.	.	.	.	.	T	13.08	2.131647	0.37630	.	.	ENSG00000241058	ENST00000377304	T	0.32515	1.45	5.09	1.29	0.21616	Pseudouridine synthase/archaeosine transglycosylase (1);PUA-like domain (1);	0.224065	0.50627	D	0.000118	T	0.26629	0.0651	L	0.58669	1.825	0.38329	D	0.943757	B	0.21753	0.06	B	0.20577	0.03	T	0.11251	-1.0595	10	0.27785	T	0.31	.	9.9315	0.41525	0.0:0.211:0.0:0.789	.	164	Q8TEA1	NSUN6_HUMAN	D	164	ENSP00000366519:E164D	ENSP00000366519:E164D	E	-	3	2	NSUN6	18943478	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	0.720000	0.25896	0.313000	0.23062	-0.274000	0.10170	GAA		0.348	NSUN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047083.1	NM_182543		7	52	0	0	0	1	0	7	52					G	18903472	T	G	18903472	3	3	431	1	0	0	0	0	1	0	0	0	10682	1490	52	5	945	5	NSUN6	10	18903472	Missense_Mutation	SNP	T	TCGA-XJ-A9DQ-01A-11D-A377-08		18903472	116631275	5	20744											
CYP2C8	1558	broad.mit.edu	37	chr10	96802770	96802770	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tcagtgtaaggcatgtggctCctatcctgcatgcaggggct	7	11	13	10	0	1	0	1	0	0	0	3	0	3	0	2	4	2	6	2	4	2	2	rs267602642		TCGA-XJ-A9DQ-01A-11D-A377-08	TCGA-XJ-A9DQ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c1090d-e690-4db4-a8ed-fc1c352eb9e9	e67df746-03cd-41aa-a469-93b419fa7143	g.chr10:96802770C>A	ENST00000371270.3	-	7	1120	c.1026G>T	c.(1024-1026)agG>agT	p.R342S	CYP2C8_ENST00000535898.1_Missense_Mutation_p.R240S|CYP2C8_ENST00000539050.1_Missense_Mutation_p.R256S	NM_000770.3|NM_001198853.1|NM_001198855.1	NP_000761.3|NP_001185782.1|NP_001185784.1	P10632	CP2C8_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 8	342					arachidonic acid metabolic process (GO:0019369)|drug metabolic process (GO:0017144)|epoxygenase P450 pathway (GO:0019373)|exogenous drug catabolic process (GO:0042738)|omega-hydroxylase P450 pathway (GO:0097267)|organic acid metabolic process (GO:0006082)|oxidation-reduction process (GO:0055114)|oxidative demethylation (GO:0070989)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	aromatase activity (GO:0070330)|caffeine oxidase activity (GO:0034875)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)			breast(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|skin(3)	21		Colorectal(252;0.0397)		all cancers(201;6.21e-05)	Abiraterone(DB05812)|Acetaminophen(DB00316)|Acetylsalicylic acid(DB00945)|Almotriptan(DB00918)|Aminophenazone(DB01424)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amodiaquine(DB00613)|Amprenavir(DB00701)|Antipyrine(DB01435)|Apixaban(DB06605)|Atorvastatin(DB01076)|Azelastine(DB00972)|Benzyl alcohol(DB06770)|Bezafibrate(DB01393)|Bortezomib(DB00188)|Brompheniramine(DB00835)|Buprenorphine(DB00921)|Bupropion(DB01156)|Cabazitaxel(DB06772)|Caffeine(DB00201)|Candesartan(DB00796)|Carbamazepine(DB00564)|Carbinoxamine(DB00748)|Chloramphenicol(DB00446)|Chloroquine(DB00608)|Cholecalciferol(DB00169)|Cimetidine(DB00501)|Cisapride(DB00604)|Clopidogrel(DB00758)|Clotrimazole(DB00257)|Clozapine(DB00363)|Cocaine(DB00907)|Colchicine(DB01394)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dabrafenib(DB08912)|Dapsone(DB00250)|Delavirdine(DB00705)|Dexamethasone(DB01234)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Diazepam(DB00829)|Diclofenac(DB00586)|Diethylstilbestrol(DB00255)|Diltiazem(DB00343)|Domperidone(DB01184)|Eltrombopag(DB06210)|Enzalutamide(DB08899)|Erlotinib(DB00530)|Estradiol(DB00783)|Eszopiclone(DB00402)|Ethinyl Estradiol(DB00977)|Etoposide(DB00773)|Felodipine(DB01023)|Fenofibrate(DB01039)|Fluorouracil(DB00544)|Fluvastatin(DB01095)|Fosphenytoin(DB01320)|Gemfibrozil(DB01241)|Halofantrine(DB01218)|Hydrocortisone(DB00741)|Ibuprofen(DB01050)|Ifosfamide(DB01181)|Irbesartan(DB01029)|Isoniazid(DB00951)|Ketamine(DB01221)|Ketobemidone(DB06738)|Ketoconazole(DB01026)|Ketoprofen(DB01009)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Levomilnacipran(DB08918)|Levothyroxine(DB00451)|Lidocaine(DB00281)|Liotrix(DB01583)|Loperamide(DB00836)|Loratadine(DB00455)|Losartan(DB00678)|Lovastatin(DB00227)|Medroxyprogesterone Acetate(DB00603)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Methadone(DB00333)|Metronidazole(DB00916)|Mirtazapine(DB00370)|Mometasone(DB00764)|Montelukast(DB00471)|Morphine(DB00295)|Mycophenolate mofetil(DB00688)|Naloxone(DB01183)|Naproxen(DB00788)|Nicardipine(DB00622)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nilutamide(DB00665)|Nilvadipine(DB06712)|Omeprazole(DB00338)|Oxybutynin(DB01062)|Paclitaxel(DB01229)|Paramethadione(DB00617)|Paroxetine(DB00715)|Pazopanib(DB06589)|Pentamidine(DB00738)|Perphenazine(DB00850)|Phenelzine(DB00780)|Phenobarbital(DB01174)|Phenprocoumon(DB00946)|Phenytoin(DB00252)|Pioglitazone(DB01132)|Piroxicam(DB00554)|Pitavastatin(DB08860)|Ponatinib(DB08901)|Pravastatin(DB00175)|Primidone(DB00794)|Probenecid(DB01032)|Progesterone(DB00396)|Propafenone(DB01182)|Propofol(DB00818)|Pyrimethamine(DB00205)|Quinidine(DB00908)|Quinine(DB00468)|Raloxifene(DB00481)|Regorafenib(DB08896)|Repaglinide(DB00912)|Rifampicin(DB01045)|Rifapentine(DB01201)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Salmeterol(DB00938)|Saquinavir(DB01232)|Secobarbital(DB00418)|Selegiline(DB01037)|Simvastatin(DB00641)|Sitagliptin(DB01261)|Sorafenib(DB00398)|Spironolactone(DB00421)|Sulfadiazine(DB00359)|Sulfamethoxazole(DB01015)|Sulfaphenazole(DB06729)|Sulfinpyrazone(DB01138)|Tamoxifen(DB00675)|Tazarotene(DB00799)|Temazepam(DB00231)|Terbinafine(DB00857)|Testosterone(DB00624)|Theophylline(DB00277)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tioconazole(DB01007)|Tolbutamide(DB01124)|Torasemide(DB00214)|Trametinib(DB08911)|Tretinoin(DB00755)|Triazolam(DB00897)|Trimethadione(DB00347)|Trimethoprim(DB00440)|Troleandomycin(DB01361)|Valproic Acid(DB00313)|Verapamil(DB00661)|Vismodegib(DB08828)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zidovudine(DB00495)|Zopiclone(DB01198)	GCATGTGGCTCCTATCCTGCA	0.498																																						ENST00000371270.3																			0				breast(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|skin(3)	21						c.(1024-1026)agG>agT		cytochrome P450, family 2, subfamily C, polypeptide 8	Aminophenazone(DB01424)|Amiodarone(DB01118)|Amodiaquine(DB00613)|Benzphetamine(DB00865)|Carbamazepine(DB00564)|Cerivastatin(DB00439)|Diclofenac(DB00586)|Fluvastatin(DB01095)|Fosphenytoin(DB01320)|Gemfibrozil(DB01241)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Lovastatin(DB00227)|Midazolam(DB00683)|Montelukast(DB00471)|Nicardipine(DB00622)|Paclitaxel(DB01229)|Phenytoin(DB00252)|Pioglitazone(DB01132)|Repaglinide(DB00912)|Rifampin(DB01045)|Rosiglitazone(DB00412)|Simvastatin(DB00641)|Sitagliptin(DB01261)|Tolbutamide(DB01124)|Torasemide(DB00214)|Tretinoin(DB00755)|Trimethoprim(DB00440)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zopiclone(DB01198)						242	187	206					10																	96802770		2203	4300	6503	SO:0001583	missense	1558				exogenous drug catabolic process|organic acid metabolic process|oxidative demethylation|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|caffeine oxidase activity|electron carrier activity|heme binding|oxygen binding	g.chr10:96802770C>A	M17397	CCDS7438.1, CCDS55721.1, CCDS73166.1	10q24.1	2007-12-14	2003-01-14		ENSG00000138115	ENSG00000138115		"Cytochrome P450s"	2622	protein-coding gene	gene with protein product		601129	"cytochrome P450, subfamily IIC (mephenytoin 4-hydroxylase), polypeptide 8"			7841444	Standard	NM_001198853		Approved	CPC8	uc001kkb.3	P10632	OTTHUMG00000018804	ENST00000371270.3:c.1026G>T	10.37:g.96802770C>A	ENSP00000360317:p.Arg342Ser					CYP2C8_ENST00000535898.1_Missense_Mutation_p.R240S|CYP2C8_ENST00000539050.1_Missense_Mutation_p.R256S	p.R342S	NM_000770.3|NM_001198853.1|NM_001198855.1	NP_000761.3|NP_001185782.1|NP_001185784.1	P10632	CP2C8_HUMAN		all cancers(201;6.21e-05)	7	1120	-		Colorectal(252;0.0397)	342					A8K9N8|B0AZN2|B7Z1F6|Q5VX93|Q8WWB1|Q9UCZ9	Missense_Mutation	SNP	ENST00000371270.3	37	c.1026G>T	CCDS7438.1	.	.	.	.	.	.	.	.	.	.	C	18.86	3.713856	0.68730	.	.	ENSG00000138115	ENST00000371270;ENST00000535868;ENST00000535898;ENST00000539050	T;T;T	0.69561	-0.41;-0.41;-0.41	4.49	2.46	0.29980	.	0.061993	0.64402	U	0.000006	D	0.82449	0.5039	M	0.93016	3.37	0.30660	N	0.754475	D;D;D;D	0.89917	0.998;1.0;1.0;1.0	D;D;D;D	0.77557	0.958;0.978;0.99;0.985	T	0.80120	-0.1515	10	0.87932	D	0	.	7.7701	0.29004	0.0:0.7715:0.0:0.2285	.	256;240;310;342	F5H7Q9;B7Z1F6;B7Z8S1;P10632	.;.;.;CP2C8_HUMAN	S	342;309;240;256	ENSP00000360317:R342S;ENSP00000445062:R240S;ENSP00000442343:R256S	ENSP00000360317:R342S	R	-	3	2	CYP2C8	96792760	0.027000	0.19231	0.981000	0.43875	0.961000	0.63080	0.114000	0.15520	1.108000	0.41662	0.585000	0.79938	AGG		0.498	CYP2C8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049499.2	NM_000770		4	76	1	0	0.00024832	1	0.000262116	4	76					A	96802770	C	A	96802770	3	1	431	1	0	0	0	0	1	0	0	0	4167	854	30	5	458	5	CYP2C8	10	96802770	Missense_Mutation	SNP	C	TCGA-XJ-A9DQ-01A-11D-A377-08	77899298	96802770	38731977	6	20745											
A2M	2	broad.mit.edu	37	chr12	9248204	9248204	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatgtgattccattaatataGacattatgacgattgatgca	14	15	7	5	1	0	4	0	3	0	1	1	5	1	4	1	0	1	1	1	0	5	7			TCGA-XJ-A9DQ-01A-11D-A377-08	TCGA-XJ-A9DQ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c1090d-e690-4db4-a8ed-fc1c352eb9e9	e67df746-03cd-41aa-a469-93b419fa7143	g.chr12:9248204G>T	ENST00000318602.7	-	16	2251	c.1944C>A	c.(1942-1944)gtC>gtA	p.V648V		NM_000014.4	NP_000005	P01023	A2MG_HUMAN	alpha-2-macroglobulin	648					blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of complement activation, lectin pathway (GO:0001869)|negative regulation of endopeptidase activity (GO:0010951)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|stem cell differentiation (GO:0048863)	blood microparticle (GO:0072562)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule lumen (GO:0031093)	calcium-dependent protein binding (GO:0048306)|enzyme binding (GO:0019899)|growth factor binding (GO:0019838)|interleukin-1 binding (GO:0019966)|interleukin-8 binding (GO:0019959)|protease binding (GO:0002020)|receptor binding (GO:0005102)|serine-type endopeptidase inhibitor activity (GO:0004867)|tumor necrosis factor binding (GO:0043120)			breast(1)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(17)|lung(30)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	77					Bacitracin(DB00626)|Becaplermin(DB00102)|Ocriplasmin(DB08888)	CATTAATATAGACATTATGAC	0.408																																						ENST00000318602.7																			0				breast(1)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(17)|lung(30)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	77						c.(1942-1944)gtC>gtA		alpha-2-macroglobulin	Bacitracin(DB00626)|Becaplermin(DB00102)						130	126	127					12																	9248204		1876	4109	5985	SO:0001819	synonymous_variant	2				blood coagulation, intrinsic pathway|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|extracellular space|platelet alpha granule lumen	enzyme binding|GTPase activator activity|interleukin-1 binding|interleukin-8 binding|serine-type endopeptidase inhibitor activity|tumor necrosis factor binding	g.chr12:9248204G>T	BX647329, X68728, M11313	CCDS44827.1	12p13.31	2010-02-24			ENSG00000175899	ENSG00000175899			7	protein-coding gene	gene with protein product		103950					Standard	XM_006719056		Approved	FWP007, S863-7, CPAMD5	uc001qvk.1	P01023	OTTHUMG00000150267	ENST00000318602.7:c.1944C>A	12.37:g.9248204G>T							p.V648V	NM_000014.4	NP_000005.2	P01023	A2MG_HUMAN			16	2251	-			648					Q13677|Q59F47|Q5QTS0|Q68DN2|Q6PIY3|Q6PN97	Silent	SNP	ENST00000318602.7	37	c.1944C>A	CCDS44827.1																																																																																				0.408	A2M-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317233.2	NM_000014		3	52	1	0	1	1	1	3	52					T	9248204	G	T	9248204	2	4	431	1	0	0	0	0	0	0	0	1	4	929	33	5		5	A2M	12	9248204	Silent	SNP	G	TCGA-XJ-A9DQ-01A-11D-A377-08		9248204	124603691	7	20746											
DUOX2	50506	broad.mit.edu	37	chr15	45387752	45387752	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	actgacacctcaaatttatgCcactcctgatggccctctcc	9	11	5	16	0	2	2	1	2	1	0	4	2	3	2	5	1	1	0	5	1	2	2			TCGA-XJ-A9DQ-01A-11D-A377-08	TCGA-XJ-A9DQ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c1090d-e690-4db4-a8ed-fc1c352eb9e9	e67df746-03cd-41aa-a469-93b419fa7143	g.chr15:45387752C>T	ENST00000603300.1	-	31	4324	c.4122G>A	c.(4120-4122)tgG>tgA	p.W1374*	DUOX2_ENST00000389039.6_Nonsense_Mutation_p.W1374*	NM_014080.4	NP_054799.4	Q9NRD8	DUOX2_HUMAN	dual oxidase 2	1374					adenohypophysis morphogenesis (GO:0048855)|bone mineralization (GO:0030282)|cuticle development (GO:0042335)|cytokine-mediated signaling pathway (GO:0019221)|fertilization (GO:0009566)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide catabolic process (GO:0042744)|inner ear development (GO:0048839)|multicellular organism growth (GO:0035264)|oxidation-reduction process (GO:0055114)|response to cAMP (GO:0051591)|response to virus (GO:0009615)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|heme binding (GO:0020037)|NAD(P)H oxidase activity (GO:0016174)|peroxidase activity (GO:0004601)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	63		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)		CAAATTTATGCCACTCCTGAT	0.567																																						ENST00000389039.6																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	63						c.(4120-4122)tgG>tgA		dual oxidase 2							112	102	105					15																	45387752		2198	4298	6496	SO:0001587	stop_gained	50506				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|response to virus	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|peroxidase activity	g.chr15:45387752C>T	AF181972	CCDS10117.1	15q15.3-q21	2013-01-10			ENSG00000140279	ENSG00000140279		"EF-hand domain containing"	13273	protein-coding gene	gene with protein product	"dual oxidase-like domains 2", "nicotinamide adenine dinucleotide phosphate oxidase", "flavoprotein NADPH oxidase", "NADPH thyroid oxidase 2", "NADH/NADPH thyroid oxidase p138-tox", "NADPH oxidase/peroxidase DUOX2"	606759				10601291, 10806195	Standard	NM_014080		Approved	P138-TOX, P138(TOX), THOX2, LNOX2	uc010bea.3	Q9NRD8	OTTHUMG00000131355	ENST00000603300.1:c.4122G>A	15.37:g.45387752C>T	ENSP00000475084:p.Trp1374*					DUOX2_ENST00000603300.1_Nonsense_Mutation_p.W1374*	p.W1374*			Q9NRD8	DUOX2_HUMAN		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)	31	4507	-		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)	1374					A8MQ13|D2XI64|Q9NR02|Q9UHF9	Nonsense_Mutation	SNP	ENST00000603300.1	37	c.4122G>A	CCDS10117.1	.	.	.	.	.	.	.	.	.	.	C	46	12.925044	0.99706	.	.	ENSG00000140279	ENST00000389039	.	.	.	5.84	5.84	0.93424	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-13.6839	19.116	0.93340	0.0:1.0:0.0:0.0	.	.	.	.	X	1374	.	ENSP00000373691:W1374X	W	-	3	0	DUOX2	43175044	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.811000	0.86092	2.768000	0.95171	0.561000	0.74099	TGG		0.567	DUOX2-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_014080		3	47	0	0	0	1	0	3	47					T	45387752	C	T	45387752	4	4	431	1	0	0	0	0	0	1	0	0	4801	740	26	3	540	3	DUOX2	15	45387752	Nonsense_Mutation	SNP	C	TCGA-XJ-A9DQ-01A-11D-A377-08		45387752	57143640	8	20747											
SRCAP	10847	broad.mit.edu	37	chr16	30724602	30724602	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgcaggaccaccaggcctTccgtcgcaagaactggcgct	8	6	12	15	3	0	1	0	0	0	1	2	2	1	2	4	3	2	4	4	3	2	1			TCGA-XJ-A9DQ-01A-11D-A377-08	TCGA-XJ-A9DQ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c1090d-e690-4db4-a8ed-fc1c352eb9e9	e67df746-03cd-41aa-a469-93b419fa7143	g.chr16:30724602T>C	ENST00000262518.4	+	15	2589	c.2204T>C	c.(2203-2205)tTc>tCc	p.F735S	SRCAP_ENST00000344771.4_Missense_Mutation_p.F735S|SNORA30_ENST00000384028.1_RNA|SRCAP_ENST00000395059.2_Missense_Mutation_p.F735S	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	735	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				histone acetylation (GO:0016573)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			CACCAGGCCTTCCGTCGCAAG	0.522																																						ENST00000262518.4																			0				NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136						c.(2203-2205)tTc>tCc		Snf2-related CREBBP activator protein							132	117	122					16																	30724602		2197	4300	6497	SO:0001583	missense	10847				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity	g.chr16:30724602T>C	AB002307	CCDS10689.2	16p11.2	2009-08-06			ENSG00000080603	ENSG00000080603			16974	protein-coding gene	gene with protein product	"Swi2/Snf2-related ATPase homolog (S. cerevisiae)", "domino homolog 1 (Drosophila)"	611421				10347196, 9205841	Standard	NM_006662		Approved	KIAA0309, EAF1, SWR1, DOMO1	uc002dze.1	Q6ZRS2	OTTHUMG00000132393	ENST00000262518.4:c.2204T>C	16.37:g.30724602T>C	ENSP00000262518:p.Phe735Ser					SRCAP_ENST00000395059.2_Missense_Mutation_p.F735S|SRCAP_ENST00000344771.4_Missense_Mutation_p.F735S	p.F735S	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Colorectal(24;0.198)		15	2589	+			735			Helicase ATP-binding.		B0JZA6|O15026|Q7Z744|Q9Y5L9	Missense_Mutation	SNP	ENST00000262518.4	37	c.2204T>C	CCDS10689.2	.	.	.	.	.	.	.	.	.	.	T	17.04	3.286040	0.59867	.	.	ENSG00000080603	ENST00000262518;ENST00000395059;ENST00000344771	D;D;D	0.93307	-3.2;-3.2;-3.2	5.41	5.41	0.78517	DEAD-like helicase (2);SNF2-related (1);	0.000000	0.64402	D	0.000013	D	0.96914	0.8992	M	0.86953	2.85	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.998;0.999	D	0.97574	1.0106	10	0.87932	D	0	-12.0795	14.566	0.68176	0.0:0.0:0.0:1.0	.	735;735;735	Q6ZRS2-3;Q6ZRS2-2;Q6ZRS2	.;.;SRCAP_HUMAN	S	735	ENSP00000262518:F735S;ENSP00000378499:F735S;ENSP00000343042:F735S	ENSP00000262518:F735S	F	+	2	0	SRCAP	30632103	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.847000	0.86896	2.272000	0.75746	0.460000	0.39030	TTC		0.522	SRCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255523.1	NM_006662		9	65	0	0	0	1	0	9	65					C	30724602	T	C	30724602	3	2	431	1	0	0	0	0	1	0	0	0	15134	1783	62	4	2254	4	SRCAP	16	30724602	Missense_Mutation	SNP	T	TCGA-XJ-A9DQ-01A-11D-A377-08		30724602	59630151	9	20748											
MARVELD3	91862	broad.mit.edu	37	chr16	71668183	71668183	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ttccacagggggctacacggGcatcaccagcttggggggca	8	6	15	12	1	1	0	1	0	0	0	2	0	2	0	2	6	2	4	2	6	1	3			TCGA-XJ-A9DQ-01A-11D-A377-08	TCGA-XJ-A9DQ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c1090d-e690-4db4-a8ed-fc1c352eb9e9	e67df746-03cd-41aa-a469-93b419fa7143	g.chr16:71668183G>A	ENST00000268485.3	+	3	727	c.683G>A	c.(682-684)gGc>gAc	p.G228D	MARVELD3_ENST00000567501.1_Silent_p.G41G|MARVELD3_ENST00000299952.4_Intron|MARVELD3_ENST00000565261.1_Intron	NM_052858.4	NP_443090.4	Q96A59	MALD3_HUMAN	MARVEL domain containing 3	228	MARVEL. {ECO:0000255|PROSITE- ProRule:PRU00581}.				cell-cell junction organization (GO:0045216)|tight junction assembly (GO:0070830)	cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|tight junction (GO:0005923)				NS(1)|endometrium(3)|large_intestine(5)|lung(6)|skin(2)	17		Ovarian(137;0.125)				GGCTACACGGGCATCACCAGC	0.557																																						ENST00000268485.3																			0				NS(1)|endometrium(3)|large_intestine(5)|lung(6)|skin(2)	17						c.(682-684)gGc>gAc		MARVEL domain containing 3							95	98	97					16																	71668183		2198	4300	6498	SO:0001583	missense	91862					integral to membrane		g.chr16:71668183G>A	BC013376	CCDS10904.1, CCDS32478.1, CCDS59270.1	16q22.2	2008-02-05	2004-07-12	2004-07-14	ENSG00000140832	ENSG00000140832			30525	protein-coding gene	gene with protein product		614094	"MARVEL (membrane-associating) domain containing 3"	MRVLDC3			Standard	NM_001017967		Approved		uc002fat.4	Q96A59	OTTHUMG00000137591	ENST00000268485.3:c.683G>A	16.37:g.71668183G>A	ENSP00000268485:p.Gly228Asp					MARVELD3_ENST00000299952.4_Intron|MARVELD3_ENST00000567501.1_Silent_p.G41G|MARVELD3_ENST00000565261.1_Intron	p.G228D	NM_052858.3	NP_443090.4	Q96A59	MALD3_HUMAN			3	727	+		Ovarian(137;0.125)	228			MARVEL.		A8K820|H3BQM5|Q96MJ4	Missense_Mutation	SNP	ENST00000268485.3	37	c.683G>A	CCDS10904.1	.	.	.	.	.	.	.	.	.	.	G	19.75	3.886502	0.72410	.	.	ENSG00000140832	ENST00000268485	T	0.43294	0.95	5.91	5.91	0.95273	Marvel (1);	.	.	.	.	T	0.51618	0.1685	L	0.50333	1.59	0.80722	D	1	D	0.61080	0.989	P	0.52758	0.708	T	0.31392	-0.9945	9	0.28530	T	0.3	.	19.2867	0.94077	0.0:0.0:1.0:0.0	.	228	Q96A59	MALD3_HUMAN	D	228	ENSP00000268485:G228D	ENSP00000268485:G228D	G	+	2	0	MARVELD3	70225684	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.076000	0.71267	2.793000	0.96121	0.655000	0.94253	GGC		0.557	MARVELD3-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000268991.2	NM_052858		4	121	0	0	0	1	0	4	121					A	71668183	G	A	71668183	3	1	431	1	0	0	0	0	1	0	0	0	9319	1203	42	3	693	3	MARVELD3	16	71668183	Missense_Mutation	SNP	G	TCGA-XJ-A9DQ-01A-11D-A377-08	40943581	71668183	18686570	10	20749											
EPN3	55040	broad.mit.edu	37	chr17	48616673	48616673	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gaggagaagctaaaaaccagCcaggtagggagtgggctgcg	13	4	17	7	1	0	1	0	0	0	1	0	4	0	2	2	4	4	3	2	4	5	2			TCGA-XJ-A9DQ-01A-11D-A377-08	TCGA-XJ-A9DQ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c1090d-e690-4db4-a8ed-fc1c352eb9e9	e67df746-03cd-41aa-a469-93b419fa7143	g.chr17:48616673C>T	ENST00000268933.3	+	5	1467	c.888C>T	c.(886-888)agC>agT	p.S296S	EPN3_ENST00000541226.1_Silent_p.S213S|RP11-94C24.8_ENST00000513017.1_RNA|EPN3_ENST00000537145.1_Silent_p.S324S	NM_017957.2	NP_060427.2	Q9H201	EPN3_HUMAN	epsin 3	296						clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|extracellular vesicular exosome (GO:0070062)|extrinsic component of plasma membrane (GO:0019897)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	lipid binding (GO:0008289)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	14	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;2.88e-09)			TAAAAACCAGCCAGGTAGGGA	0.562																																						ENST00000268933.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	14						c.(886-888)agC>agT		epsin 3							114	117	116					17																	48616673		2203	4300	6503	SO:0001819	synonymous_variant	55040					clathrin-coated vesicle|nucleus|perinuclear region of cytoplasm	lipid binding	g.chr17:48616673C>T	AF324241	CCDS11570.1	17q21.33	2008-07-18				ENSG00000049283			18235	protein-coding gene	gene with protein product		607264				10951261, 11359770	Standard	NM_017957		Approved	FLJ20778, MGC129899	uc002ira.4	Q9H201		ENST00000268933.3:c.888C>T	17.37:g.48616673C>T						EPN3_ENST00000541226.1_Silent_p.S213S|EPN3_ENST00000537145.1_Silent_p.S324S	p.S296S	NM_017957.2	NP_060427.2	Q9H201	EPN3_HUMAN	BRCA - Breast invasive adenocarcinoma(22;2.88e-09)		5	1467	+	Breast(11;1.23e-18)		296					A8K6J3|A8KAB2|Q9BVN6|Q9NWK2	Silent	SNP	ENST00000268933.3	37	c.888C>T	CCDS11570.1																																																																																				0.562	EPN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367573.1	NM_017957		3	35	0	0	0	1	0	3	35					T	48616673	C	T	48616673	2	4	431	1	0	0	0	0	0	0	0	1	5187	738	26	3		3	EPN3	17	48616673	Silent	SNP	C	TCGA-XJ-A9DQ-01A-11D-A377-08		48616673	32578537	11	20750											
RNMT	8731	broad.mit.edu	37	chr18	13742584	13742584	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atcctttatttggctgcaaaTatgacttcaacttggaaggt	11	15	8	7	0	1	1	1	1	0	0	2	2	2	2	1	3	2	2	1	3	5	6			TCGA-XJ-A9DQ-01A-11D-A377-08	TCGA-XJ-A9DQ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c1090d-e690-4db4-a8ed-fc1c352eb9e9	e67df746-03cd-41aa-a469-93b419fa7143	g.chr18:13742584T>C	ENST00000383314.2	+	8	1312	c.1072T>C	c.(1072-1074)Tat>Cat	p.Y358H	RNMT_ENST00000535051.1_Missense_Mutation_p.Y116H|RNMT_ENST00000262173.3_Missense_Mutation_p.Y358H|RNMT_ENST00000592764.1_Missense_Mutation_p.Y358H|RNMT_ENST00000589866.1_Missense_Mutation_p.Y358H|RNMT_ENST00000543302.2_Missense_Mutation_p.Y358H			O43148	MCES_HUMAN	RNA (guanine-7-) methyltransferase	358	mRNA cap 0 methyltransferase. {ECO:0000255|PROSITE-ProRule:PRU00895}.				7-methylguanosine mRNA capping (GO:0006370)|gene expression (GO:0010467)|RNA (guanine-N7)-methylation (GO:0036265)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	mRNA cap binding complex (GO:0005845)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|receptor complex (GO:0043235)	mRNA (guanine-N7-)-methyltransferase activity (GO:0004482)|RNA binding (GO:0003723)			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|skin(2)	18						TGGCTGCAAATATGACTTCAA	0.338																																					GBM(29;474 594 19092 36647 41529)	ENST00000383314.2																			0				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|skin(2)	18						c.(1072-1074)Tat>Cat		RNA (guanine-7-) methyltransferase							175	170	172					18																	13742584		2203	4299	6502	SO:0001583	missense	8731				mRNA capping|transcription from RNA polymerase II promoter|viral reproduction	nucleoplasm	mRNA (guanine-N7-)-methyltransferase activity|RNA binding	g.chr18:13742584T>C	AF067791	CCDS11867.1	18p11.21	2008-05-14			ENSG00000101654	ENSG00000101654	2.1.1.56		10075	protein-coding gene	gene with protein product		603514				9828141, 9705270	Standard	NM_003799		Approved	RG7MT1	uc002ksl.1	O43148	OTTHUMG00000131718	ENST00000383314.2:c.1072T>C	18.37:g.13742584T>C	ENSP00000372804:p.Tyr358His					RNMT_ENST00000262173.3_Missense_Mutation_p.Y358H|RNMT_ENST00000535051.1_Missense_Mutation_p.Y116H|RNMT_ENST00000592764.1_Missense_Mutation_p.Y358H|RNMT_ENST00000543302.2_Missense_Mutation_p.Y358H|RNMT_ENST00000589866.1_Missense_Mutation_p.Y358H	p.Y358H			O43148	MCES_HUMAN			8	1312	+			358					B0YJ90|D3DUJ5|O94996|Q9UIJ9	Missense_Mutation	SNP	ENST00000383314.2	37	c.1072T>C	CCDS11867.1	.	.	.	.	.	.	.	.	.	.	T	24.4	4.523293	0.85600	.	.	ENSG00000101654	ENST00000383314;ENST00000535051;ENST00000543302;ENST00000262173	.	.	.	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	T	0.78084	0.4228	M	0.93678	3.445	0.80722	D	1	P;P	0.48230	0.886;0.907	P;P	0.48654	0.449;0.585	D	0.84770	0.0767	9	0.87932	D	0	-30.7553	15.9479	0.79806	0.0:0.0:0.0:1.0	.	358;358	O43148-2;O43148	.;MCES_HUMAN	H	358;116;358;358	.	ENSP00000262173:Y358H	Y	+	1	0	RNMT	13732584	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.330000	0.79181	2.225000	0.72522	0.482000	0.46254	TAT		0.338	RNMT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254636.1	NM_003799		7	83	0	0	0	1	0	7	83					C	13742584	T	C	13742584	3	2	431	1	0	0	0	0	1	0	0	0	13506	1406	49	4	1094	4	RNMT	18	13742584	Missense_Mutation	SNP	T	TCGA-XJ-A9DQ-01A-11D-A377-08		13742584	64334664	12	20751											
ZNF155	7711	broad.mit.edu	37	chr19	44500900	44500900	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gatatatgtggtaagaccttCtattttaggtcaagacttaa	13	15	8	5	0	2	2	1	0	1	2	2	3	2	2	1	2	0	1	1	2	7	8			TCGA-XJ-A9DQ-01A-11D-A377-08	TCGA-XJ-A9DQ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c1090d-e690-4db4-a8ed-fc1c352eb9e9	e67df746-03cd-41aa-a469-93b419fa7143	g.chr19:44500900C>G	ENST00000270014.2	+	5	1019	c.891C>G	c.(889-891)ttC>ttG	p.F297L	RP11-15A1.7_ENST00000586860.1_RNA|RP11-15A1.7_ENST00000589021.1_RNA|ZNF155_ENST00000590615.1_Missense_Mutation_p.F297L|ZNF155_ENST00000407951.2_Missense_Mutation_p.F308L	NM_001260487.1|NM_198089.2	NP_001247416|NP_932355	Q12901	ZN155_HUMAN	zinc finger protein 155	297					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	15		Prostate(69;0.0352)				GTAAGACCTTCTATTTTAGGT	0.403																																					NSCLC(61;554 1277 20909 42067 42312)	ENST00000270014.2																			0				endometrium(3)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	15						c.(889-891)ttC>ttG		zinc finger protein 155							94	97	96					19																	44500900		2203	4300	6503	SO:0001583	missense	7711					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:44500900C>G	U09852	CCDS12634.1, CCDS58668.1	19q13.2-q13.32	2013-01-08	2006-08-22			ENSG00000204920		"Zinc fingers, C2H2-type", "-"	12940	protein-coding gene	gene with protein product		604086	"zinc finger protein 155 (pHZ-96)"			7557990	Standard	NM_001260486		Approved	pHZ-96	uc010xwt.2	Q12901		ENST00000270014.2:c.891C>G	19.37:g.44500900C>G	ENSP00000270014:p.Phe297Leu					ZNF155_ENST00000407951.2_Missense_Mutation_p.F308L|ZNF155_ENST00000590615.1_Missense_Mutation_p.F297L	p.F297L	NM_001260487.1|NM_198089.2	NP_001247416.1|NP_932355.2	Q12901	ZN155_HUMAN			5	1019	+		Prostate(69;0.0352)	297					A2BDE6|B2RB63|B4DM95|J3KQ08|Q6AZZ8|Q9UIE1|Q9UK14	Missense_Mutation	SNP	ENST00000270014.2	37	c.891C>G	CCDS12634.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.25|15.25	2.778859|2.778859	0.49891|0.49891	.|.	.|.	ENSG00000204920|ENSG00000204920	ENST00000407951;ENST00000270014|ENST00000425747	T;T|.	0.46063|.	0.88;0.88|.	2.59|2.59	0.261|0.261	0.15592|0.15592	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);|.	.|.	.|.	.|.	.|.	T|T	0.54647|0.54647	0.1871|0.1871	M|M	0.80332|0.80332	2.49|2.49	0.18873|0.18873	N|N	0.999988|0.999988	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.97110|.	0.998;1.0|.	T|T	0.51180|0.51180	-0.8738|-0.8738	9|6	0.87932|0.66056	D|D	0|0.02	.|.	5.9279|5.9279	0.19122|0.19122	0.0:0.6077:0.0:0.3923|0.0:0.6077:0.0:0.3923	.|.	308;297|.	B4DM95;Q12901|.	.;ZN155_HUMAN|.	L|C	308;297|171	ENSP00000385163:F308L;ENSP00000270014:F297L|.	ENSP00000270014:F297L|ENSP00000401576:S171C	F|S	+|+	3|2	2|0	ZNF155|ZNF155	49192740|49192740	0.000000|0.000000	0.05858|0.05858	0.013000|0.013000	0.15412|0.15412	0.171000|0.171000	0.22731|0.22731	-0.596000|-0.596000	0.05720|0.05720	0.006000|0.006000	0.14734|0.14734	0.462000|0.462000	0.41574|0.41574	TTC|TCT		0.403	ZNF155-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000460074.1	NM_003445		4	76	0	0	0	1	0	4	76					G	44500900	C	G	44500900	3	3	431	1	0	0	0	0	1	0	0	0	17733	912	32	5	905	5	ZNF155	19	44500900	Missense_Mutation	SNP	C	TCGA-XJ-A9DQ-01A-11D-A377-08		44500900	14628083	13	20752											
LRRC4B	94030	broad.mit.edu	37	chr19	51051832	51051832	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttgcaggttcaggtaccgCgtgttgaccgggatgctggc	5	11	15	10	3	2	1	1	1	1	0	2	2	2	2	2	4	3	5	2	4	1	4	rs531091448		TCGA-XJ-A9DQ-01A-11D-A377-08	TCGA-XJ-A9DQ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c1090d-e690-4db4-a8ed-fc1c352eb9e9	e67df746-03cd-41aa-a469-93b419fa7143	g.chr19:51051832C>T	ENST00000599957.1	-	2	461	c.264G>A	c.(262-264)acG>acA	p.T88T	LRRC4B_ENST00000389201.3_Silent_p.T88T			Q9NT99	LRC4B_HUMAN	leucine rich repeat containing 4B	88					positive regulation of synapse assembly (GO:0051965)	cell junction (GO:0030054)|cerebellar mossy fiber (GO:0044300)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synapse (GO:0045202)				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(1)|lung(11)|prostate(4)|skin(1)|urinary_tract(1)	30		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00284)|GBM - Glioblastoma multiforme(134;0.0188)		TCAGGTACCGCGTGTTGACCG	0.672													-|||	1	0.000199681	8e-04	0	5008	,	,		14006	0		0	False		,,,				2504	0					ENST00000599957.1																			0				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(1)|lung(11)|prostate(4)|skin(1)|urinary_tract(1)	30						c.(262-264)acG>acA		leucine rich repeat containing 4B							19	20	20					19																	51051832		2094	4188	6282	SO:0001819	synonymous_variant	94030					cell junction|integral to membrane|presynaptic membrane		g.chr19:51051832C>T	BC032460	CCDS42595.1	19q13.33	2014-01-30	2004-06-14	2004-06-16	ENSG00000131409	ENSG00000131409		"Immunoglobulin superfamily / I-set domain containing", "Endogenous ligands"	25042	protein-coding gene	gene with protein product	"netrin-G3 ligand"		"leucine-rich repeats and immunoglobulin-like domains 4"	LRIG4		11441184	Standard	NM_001080457		Approved	DKFZp761A179, HSM	uc002pss.3	Q9NT99		ENST00000599957.1:c.264G>A	19.37:g.51051832C>T						LRRC4B_ENST00000389201.3_Silent_p.T88T	p.T88T			Q9NT99	LRC4B_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00284)|GBM - Glioblastoma multiforme(134;0.0188)	2	461	-		all_neural(266;0.131)	88					Q3ZCQ4|Q58F20	Silent	SNP	ENST00000599957.1	37	c.264G>A	CCDS42595.1																																																																																				0.672	LRRC4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464907.1	NM_001080457		4	9	0	0	0	1	0	4	9					T	51051832	C	T	51051832	2	4	431	1	0	0	0	0	0	0	0	1	9007	755	27	1		1	LRRC4B	19	51051832	Silent	SNP	C	TCGA-XJ-A9DQ-01A-11D-A377-08	6550932	51051832	8077151	14	20753											
PIK3CD	5293	broad.mit.edu	37	chr1	9782083	9782084	+	Frame_Shift_Del	DEL	CT	CT	-																															aatgacttcgtcaagctgagCtctcagaagacccccaagcc																										TCGA-XJ-A9DX-01A-11D-A377-08	TCGA-XJ-A9DX-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	955a0861-eff0-463b-908c-a108ddb4b971	c23cbbc8-b66c-4e06-8c99-00590b5ece18	g.chr1:9782083_9782084delCT	ENST00000377346.4	+	17	2301_2302	c.2106_2107delCT	c.(2104-2109)agctctfs	p.SS702fs	PIK3CD_ENST00000536656.1_Frame_Shift_Del_p.SS726fs|PIK3CD_ENST00000361110.2_Frame_Shift_Del_p.SS726fs|PIK3CD_ENST00000543390.1_3'UTR	NM_005026.3	NP_005017.3	O00329	PK3CD_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta	702					adaptive immune response (GO:0002250)|B cell activation (GO:0042113)|B cell chemotaxis (GO:0035754)|B cell homeostasis (GO:0001782)|B cell receptor signaling pathway (GO:0050853)|cytokine production (GO:0001816)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|mast cell chemotaxis (GO:0002551)|mast cell degranulation (GO:0043303)|mast cell differentiation (GO:0060374)|natural killer cell activation (GO:0030101)|natural killer cell chemotaxis (GO:0035747)|natural killer cell differentiation (GO:0001779)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil chemotaxis (GO:0030593)|neutrophil extravasation (GO:0072672)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|protein phosphorylation (GO:0006468)|respiratory burst involved in defense response (GO:0002679)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|T cell activation (GO:0042110)|T cell chemotaxis (GO:0010818)|T cell differentiation (GO:0030217)|T cell receptor signaling pathway (GO:0050852)	cytosol (GO:0005829)|mast cell granule (GO:0042629)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)			central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(12)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31	all_lung(157;0.222)	all_lung(118;2.44e-05)|Lung NSC(185;4.08e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0231)|Colorectal(212;7.52e-08)|COAD - Colon adenocarcinoma(227;1.78e-05)|Kidney(185;0.000322)|KIRC - Kidney renal clear cell carcinoma(229;0.00114)|BRCA - Breast invasive adenocarcinoma(304;0.0021)|STAD - Stomach adenocarcinoma(132;0.00395)|READ - Rectum adenocarcinoma(331;0.0419)	Caffeine(DB00201)	TCAAGCTGAGCTCTCAGAAGAC	0.634											OREG0013082	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000536656.1																			0				central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(12)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31						c.(2176-2181)agctfs		phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta																																				SO:0001589	frameshift_variant	5293				phosphatidylinositol-mediated signaling|protein phosphorylation	phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding	g.chr1:9782083_9782084delCT		CCDS104.1	1p36.2	2014-09-17	2012-07-13		ENSG00000171608	ENSG00000171608	2.7.1.153		8977	protein-coding gene	gene with protein product	"phosphatidylinositol 3-kinase, catalytic, delta polypeptide", "phosphoinositide-3-kinase C"	602839	"phosphoinositide-3-kinase, catalytic, delta polypeptide"			9113989, 9455486	Standard	NM_005026		Approved	p110D	uc001aqb.4	O00329	OTTHUMG00000001450	ENST00000377346.4:c.2106_2107delCT	1.37:g.9782085_9782086delCT	ENSP00000366563:p.Ser702fs		OREG0013082	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	659	PIK3CD_ENST00000543390.1_3'UTR|PIK3CD_ENST00000377346.4_Frame_Shift_Del_p.SS702fs|PIK3CD_ENST00000361110.2_Frame_Shift_Del_p.SS726fs	p.SS726fs			O00329	PK3CD_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0231)|Colorectal(212;7.52e-08)|COAD - Colon adenocarcinoma(227;1.78e-05)|Kidney(185;0.000322)|KIRC - Kidney renal clear cell carcinoma(229;0.00114)|BRCA - Breast invasive adenocarcinoma(304;0.0021)|STAD - Stomach adenocarcinoma(132;0.00395)|READ - Rectum adenocarcinoma(331;0.0419)	17	2386_2387	+	all_lung(157;0.222)	all_lung(118;2.44e-05)|Lung NSC(185;4.08e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)	702					A6NCG0|G1FFP1|O15445|Q5SR49	Frame_Shift_Del	DEL	ENST00000377346.4	37	c.2178_2179delCT	CCDS104.1																																																																																				0.634	PIK3CD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004235.1	NM_005026		19	37						19	37	---	---	---	---	-	9782084	CT	-	9782083	7	5	432	1	0	1	0	1	0	0	0	0	11915	796	28	0	2164	0	PIK3CD	1	9782083	Frame_Shift_Del	DEL	CT	TCGA-XJ-A9DX-01A-11D-A377-08		9782083	239468538	1	20754											
VPS13D	55187	broad.mit.edu	37	chr1	12438521	12438521	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agctgtggaggatgacaggaAcaggaatgctggcccatgag	12	6	16	7	0	0	2	0	2	0	0	0	6	0	6	1	5	3	2	1	5	2	0			TCGA-XJ-A9DX-01A-11D-A377-08	TCGA-XJ-A9DX-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	955a0861-eff0-463b-908c-a108ddb4b971	c23cbbc8-b66c-4e06-8c99-00590b5ece18	g.chr1:12438521A>G	ENST00000358136.3	+	56	11087	c.10957A>G	c.(10957-10959)Aca>Gca	p.T3653A	VPS13D_ENST00000356315.4_Missense_Mutation_p.T3628A|VPS13D_ENST00000496628.1_3'UTR	NM_015378.2	NP_056193.2			vacuolar protein sorting 13 homolog D (S. cerevisiae)											NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		GATGACAGGAACAGGAATGCT	0.537																																						ENST00000358136.3																			0				NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130						c.(10957-10959)Aca>Gca		vacuolar protein sorting 13 homolog D (S. cerevisiae)							89	85	86					1																	12438521		2203	4300	6503	SO:0001583	missense	55187				protein localization			g.chr1:12438521A>G	AJ608774	CCDS30588.1, CCDS30589.1	1p36.21	2008-02-05	2006-04-04		ENSG00000048707	ENSG00000048707			23595	protein-coding gene	gene with protein product		608877	"vacuolar protein sorting 13D (yeast)"				Standard	NM_015378		Approved	FLJ10619, KIAA0453	uc001atv.3	Q5THJ4	OTTHUMG00000013155	ENST00000358136.3:c.10957A>G	1.37:g.12438521A>G	ENSP00000350854:p.Thr3653Ala					VPS13D_ENST00000356315.4_Missense_Mutation_p.T3628A|VPS13D_ENST00000496628.1_3'UTR	p.T3653A	NM_015378.2	NP_056193.2	Q5THJ4	VP13D_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)	56	11087	+	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)	3652						Missense_Mutation	SNP	ENST00000358136.3	37	c.10957A>G	CCDS30588.1	.	.	.	.	.	.	.	.	.	.	A	10.53	1.375944	0.24857	.	.	ENSG00000048707	ENST00000356315;ENST00000358136	T;T	0.50813	0.73;0.73	5.64	3.3	0.37823	.	0.267126	0.40640	N	0.001053	T	0.24470	0.0593	N	0.17474	0.49	0.53688	D	0.999979	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.001	T	0.05666	-1.0871	10	0.11794	T	0.64	.	4.9949	0.14233	0.6605:0.0:0.2139:0.1256	.	3628;3652	Q5THJ4-2;Q5THJ4	.;VP13D_HUMAN	A	3628;3653	ENSP00000348666:T3628A;ENSP00000350854:T3653A	ENSP00000348666:T3628A	T	+	1	0	VPS13D	12361108	0.022000	0.18835	0.562000	0.28370	0.952000	0.60782	1.434000	0.34958	0.409000	0.25649	0.528000	0.53228	ACA		0.537	VPS13D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000036897.2	NM_015378		5	46	0	0	0	1	0	5	46					G	12438521	A	G	12438521	3	3	432	1	0	0	0	0	1	0	0	0	17189	43	2	4	11175	4	VPS13D	1	12438521	Missense_Mutation	SNP	A	TCGA-XJ-A9DX-01A-11D-A377-08	2656438	12438521	236812100	2	20755											
ACTL8	81569	broad.mit.edu	37	chr1	18152662	18152662	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ctcccgcgtggagctgacccCcatgcagcgggtggctcctg	4	7	14	16	3	0	1	0	1	0	0	2	2	2	2	4	3	3	3	4	3	0	0			TCGA-XJ-A9DX-01A-11D-A377-08	TCGA-XJ-A9DX-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	955a0861-eff0-463b-908c-a108ddb4b971	c23cbbc8-b66c-4e06-8c99-00590b5ece18	g.chr1:18152662C>T	ENST00000375406.1	+	3	965	c.749C>T	c.(748-750)cCc>cTc	p.P250L		NM_030812.2	NP_110439.2	Q9H568	ACTL8_HUMAN	actin-like 8	250					epithelial cell differentiation (GO:0030855)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(10)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	28		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00186)|all_lung(284;0.0054)|Lung NSC(340;0.00566)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;6.43e-06)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.00652)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201)		GAGCTGACCCCCATGCAGCGG	0.632											OREG0013157	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000375406.1																			0				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(10)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	28						c.(748-750)cCc>cTc		actin-like 8							41	46	44					1																	18152662		2203	4300	6503	SO:0001583	missense	81569					cytoplasm|cytoskeleton		g.chr1:18152662C>T	AK057339	CCDS183.1	1p36.2-p35	2009-03-25			ENSG00000117148	ENSG00000117148			24018	protein-coding gene	gene with protein product	"cancer/testis antigen 57"						Standard	NM_030812		Approved	CT57	uc001bat.3	Q9H568	OTTHUMG00000002512	ENST00000375406.1:c.749C>T	1.37:g.18152662C>T	ENSP00000364555:p.Pro250Leu		OREG0013157	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	723		p.P250L	NM_030812.2	NP_110439.2	Q9H568	ACTL8_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;6.43e-06)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.00652)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201)	3	965	+		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00186)|all_lung(284;0.0054)|Lung NSC(340;0.00566)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)	250					Q13104|Q96M75	Missense_Mutation	SNP	ENST00000375406.1	37	c.749C>T	CCDS183.1	.	.	.	.	.	.	.	.	.	.	C	18.93	3.727332	0.69074	.	.	ENSG00000117148	ENST00000375406	D	0.94376	-3.41	4.42	3.42	0.39159	.	0.388130	0.19563	N	0.111285	D	0.93848	0.8032	M	0.62088	1.915	0.43255	D	0.995183	P	0.52170	0.951	P	0.55112	0.769	D	0.93468	0.6816	10	0.87932	D	0	-41.2223	9.7295	0.40352	0.0:0.7884:0.2115:0.0	.	250	Q9H568	ACTL8_HUMAN	L	250	ENSP00000364555:P250L	ENSP00000364555:P250L	P	+	2	0	ACTL8	18025249	0.336000	0.24757	0.573000	0.28510	0.602000	0.36980	3.145000	0.50623	2.424000	0.82194	0.655000	0.94253	CCC		0.632	ACTL8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007143.1	NM_030812		6	33	0	0	0	1	0	6	33					T	18152662	C	T	18152662	3	4	432	1	0	0	0	0	1	0	0	0	202	623	22	3	755	3	ACTL8	1	18152662	Missense_Mutation	SNP	C	TCGA-XJ-A9DX-01A-11D-A377-08	5714141	18152662	231097959	3	20756											
FGR	2268	broad.mit.edu	37	chr1	27939804	27939804	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	accacacgtctgacttgatgGtgaatctgccaaagagggca	12	8	11	10	1	2	4	0	3	2	1	2	4	2	4	2	2	1	1	2	2	2	1			TCGA-XJ-A9DX-01A-11D-A377-08	TCGA-XJ-A9DX-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	955a0861-eff0-463b-908c-a108ddb4b971	c23cbbc8-b66c-4e06-8c99-00590b5ece18	g.chr1:27939804G>T	ENST00000374005.3	-	12	1595	c.1307C>A	c.(1306-1308)aCc>aAc	p.T436N	FGR_ENST00000399173.1_Missense_Mutation_p.T436N|FGR_ENST00000545953.1_Missense_Mutation_p.T370N|FGR_ENST00000374004.1_Missense_Mutation_p.T436N	NM_005248.2	NP_005239.1	P09769	FGR_HUMAN	FGR proto-oncogene, Src family tyrosine kinase	436	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				blood coagulation (GO:0007596)|defense response to Gram-positive bacterium (GO:0050830)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|immune response-regulating cell surface receptor signaling pathway (GO:0002768)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell migration (GO:0030335)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of mast cell degranulation (GO:0043306)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of cell shape (GO:0008360)|regulation of innate immune response (GO:0045088)|regulation of phagocytosis (GO:0050764)|regulation of protein kinase activity (GO:0045859)|response to virus (GO:0009615)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	ATP binding (GO:0005524)|Fc-gamma receptor I complex binding (GO:0034988)|immunoglobulin receptor binding (GO:0034987)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|phosphotyrosine binding (GO:0001784)|protein kinase binding (GO:0019901)|protein tyrosine kinase activity (GO:0004713)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(4)	16		all_lung(284;2.05e-05)|Colorectal(325;3.46e-05)|Lung NSC(340;3.67e-05)|Renal(390;0.00121)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.25e-24)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00244)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		TGACTTGATGGTGAATCTGCC	0.587																																						ENST00000374005.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(4)	16						c.(1306-1308)aCc>aAc		feline Gardner-Rasheed sarcoma viral oncogene homolog							93	94	93					1																	27939804		2203	4300	6503	SO:0001583	missense	2268				platelet activation|response to virus	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity	g.chr1:27939804G>T	BC064382	CCDS305.1	1p36.2-p36.1	2014-06-25	2014-06-25		ENSG00000000938	ENSG00000000938		"SH2 domain containing"	3697	protein-coding gene	gene with protein product		164940	"Gardner-Rasheed feline sarcoma viral (v-fgr) oncogene homolog", "v-fgr feline Gardner-Rasheed sarcoma viral oncogene homolog", "feline Gardner-Rasheed sarcoma viral oncogene homolog"	SRC2		3922831	Standard	NM_001042729		Approved	c-fgr, p55c-fgr	uc001bom.3	P09769	OTTHUMG00000003516	ENST00000374005.3:c.1307C>A	1.37:g.27939804G>T	ENSP00000363117:p.Thr436Asn					FGR_ENST00000399173.1_Missense_Mutation_p.T436N|FGR_ENST00000374004.1_Missense_Mutation_p.T436N|FGR_ENST00000545953.1_Missense_Mutation_p.T370N	p.T436N	NM_005248.2	NP_005239.1	P09769	FGR_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.25e-24)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00244)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)	12	1595	-		all_lung(284;2.05e-05)|Colorectal(325;3.46e-05)|Lung NSC(340;3.67e-05)|Renal(390;0.00121)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	436			Protein kinase.		D3DPL7|Q9UIQ3	Missense_Mutation	SNP	ENST00000374005.3	37	c.1307C>A	CCDS305.1	.	.	.	.	.	.	.	.	.	.	g	21.4	4.137381	0.77775	.	.	ENSG00000000938	ENST00000374005;ENST00000545953;ENST00000399173;ENST00000374004;ENST00000374003	T;T;T;T;T	0.12774	2.65;2.65;2.65;2.65;2.65	4.65	3.72	0.42706	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.53938	D	0.000042	T	0.29620	0.0739	L	0.54323	1.7	0.34908	D	0.747198	D	0.63046	0.992	D	0.63703	0.917	T	0.44406	-0.9330	10	0.87932	D	0	.	13.8042	0.63220	0.0:0.1551:0.8449:0.0	.	436	P09769	FGR_HUMAN	N	436;370;436;436;436	ENSP00000363117:T436N;ENSP00000445302:T370N;ENSP00000382126:T436N;ENSP00000363116:T436N;ENSP00000363115:T436N	ENSP00000363115:T436N	T	-	2	0	FGR	27812391	1.000000	0.71417	0.999000	0.59377	0.968000	0.65278	6.725000	0.74752	1.080000	0.41073	0.586000	0.80456	ACC		0.587	FGR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009772.1	NM_005248		35	36	1	0	1.07637e-12	1	1.28279e-12	35	36					T	27939804	G	T	27939804	3	4	432	1	0	0	0	0	1	0	0	0	5874	1261	44	5	290	5	FGR	1	27939804	Missense_Mutation	SNP	G	TCGA-XJ-A9DX-01A-11D-A377-08	9787142	27939804	221310817	4	20757											
LCK	3932	broad.mit.edu	37	chr1	32745333	32745333	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttgaccatcaacaaactcctGgacatggcagcccaagtaag	14	7	8	12	0	1	1	1	1	0	0	2	2	2	2	3	2	3	2	3	2	4	2			TCGA-XJ-A9DX-01A-11D-A377-08	TCGA-XJ-A9DX-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	955a0861-eff0-463b-908c-a108ddb4b971	c23cbbc8-b66c-4e06-8c99-00590b5ece18	g.chr1:32745333G>A	ENST00000336890.5	+	10	1164	c.1026G>A	c.(1024-1026)ctG>ctA	p.L342L	LCK_ENST00000333070.4_Silent_p.L372L|LCK_ENST00000373564.3_Silent_p.L349L	NM_005356.3	NP_005347.3	P06239	LCK_HUMAN	LCK proto-oncogene, Src family tyrosine kinase	342	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|aging (GO:0007568)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|cellular zinc ion homeostasis (GO:0006882)|dephosphorylation (GO:0016311)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hemopoiesis (GO:0030097)|innate immune response (GO:0045087)|leukocyte migration (GO:0050900)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|positive regulation of gamma-delta T cell differentiation (GO:0045588)|positive regulation of gene expression (GO:0010628)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell receptor signaling pathway (GO:0050862)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|positive regulation of uterine smooth muscle contraction (GO:0070474)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of defense response to virus by virus (GO:0050690)|regulation of lymphocyte activation (GO:0051249)|release of sequestered calcium ion into cytosol (GO:0051209)|response to drug (GO:0042493)|response to hydrogen peroxide (GO:0042542)|response to mechanical stimulus (GO:0009612)|response to zinc ion (GO:0010043)|T cell costimulation (GO:0031295)|T cell differentiation (GO:0030217)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|membrane raft (GO:0045121)|pericentriolar material (GO:0000242)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)|ATP binding (GO:0005524)|ATPase binding (GO:0051117)|CD4 receptor binding (GO:0042609)|CD8 receptor binding (GO:0042610)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein C-terminus binding (GO:0008022)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine kinase activity (GO:0004713)|SH2 domain binding (GO:0042169)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	37		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.212)			Dasatinib(DB01254)|Ponatinib(DB08901)	ACAAACTCCTGGACATGGCAG	0.557			T	TRB@	T-ALL																																	ENST00000333070.4				Dom	yes		1	1p35-p34.3	3932	T	lymphocyte-specific protein tyrosine kinase			L	TRB@		T-ALL		0				breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	37						c.(1114-1116)ctG>ctA		lymphocyte-specific protein tyrosine kinase	Dasatinib(DB01254)						122	129	127					1																	32745333		2203	4300	6503	SO:0001819	synonymous_variant	3932				activation of caspase activity|cellular zinc ion homeostasis|induction of apoptosis|interspecies interaction between organisms|leukocyte migration|platelet activation|positive regulation of T cell receptor signaling pathway|regulation of defense response to virus by virus|release of sequestered calcium ion into cytosol|response to drug|T cell costimulation|T cell differentiation|T cell receptor signaling pathway|viral reproduction	cytosol|Golgi apparatus|membrane raft|pericentriolar material|plasma membrane	ATP binding|ATPase binding|CD4 receptor binding|CD8 receptor binding|glycoprotein binding|non-membrane spanning protein tyrosine kinase activity|phosphatidylinositol 3-kinase binding|protein C-terminus binding|protein kinase binding|protein serine/threonine phosphatase activity|SH2 domain binding	g.chr1:32745333G>A	M36881	CCDS359.1	1p34.3	2014-09-17	2014-06-25		ENSG00000182866	ENSG00000182866	2.7.10.1	"SH2 domain containing"	6524	protein-coding gene	gene with protein product		153390	"lymphocyte-specific protein tyrosine kinase"			2787474	Standard	XM_005270862		Approved		uc001buy.3	P06239	OTTHUMG00000007463	ENST00000336890.5:c.1026G>A	1.37:g.32745333G>A						LCK_ENST00000336890.5_Silent_p.L342L|LCK_ENST00000373564.3_Silent_p.L349L	p.L372L	NM_001042771.1	NP_001036236.1	P06239	LCK_HUMAN			10	1216	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.212)	342			Protein kinase.		D3DPP8|P07100|Q12850|Q13152|Q5TDH8|Q5TDH9|Q7RTZ3|Q96DW4|Q9NYT8	Silent	SNP	ENST00000336890.5	37	c.1116G>A	CCDS359.1																																																																																				0.557	LCK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019616.4	NM_005356		74	157	0	0	0	1	0	74	157					A	32745333	G	A	32745333	2	1	432	1	0	0	0	0	0	0	0	1	8676	1335	47	3		3	LCK	1	32745333	Silent	SNP	G	TCGA-XJ-A9DX-01A-11D-A377-08	4805529	32745333	216505288	5	20758											
LHX8	431707	broad.mit.edu	37	chr1	75609544	75609544	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgcagggaatgggattagtGtggaaggtgccctcctcaca	10	9	14	8	0	1	0	1	0	0	0	2	3	2	3	2	4	2	1	2	4	3	1			TCGA-XJ-A9DX-01A-11D-A377-08	TCGA-XJ-A9DX-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	955a0861-eff0-463b-908c-a108ddb4b971	c23cbbc8-b66c-4e06-8c99-00590b5ece18	g.chr1:75609544G>A	ENST00000294638.5	+	7	1289	c.625G>A	c.(625-627)Gtg>Atg	p.V209M	LHX8_ENST00000356261.3_Missense_Mutation_p.V199M	NM_001001933.1	NP_001001933.1	Q68G74	LHX8_HUMAN	LIM homeobox 8	209					female gonad development (GO:0008585)|forebrain neuron development (GO:0021884)|learning or memory (GO:0007611)|odontogenesis of dentin-containing tooth (GO:0042475)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	female germ cell nucleus (GO:0001674)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(18)|ovary(3)|urinary_tract(1)	30						TGGGATTAGTGTGGAAGGTGC	0.413																																						ENST00000294638.5																			0				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(18)|ovary(3)|urinary_tract(1)	30						c.(625-627)Gtg>Atg		LIM homeobox 8							105	103	104					1																	75609544		2203	4300	6503	SO:0001583	missense	431707					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr1:75609544G>A	AB050476	CCDS30756.1, CCDS58008.1	1p31.1	2011-06-20			ENSG00000162624	ENSG00000162624		"Homeoboxes / LIM class"	28838	protein-coding gene	gene with protein product		604425				9598319	Standard	NM_001256114		Approved	Lhx7	uc031pmx.1	Q68G74	OTTHUMG00000009692	ENST00000294638.5:c.625G>A	1.37:g.75609544G>A	ENSP00000294638:p.Val209Met					LHX8_ENST00000356261.3_Missense_Mutation_p.V199M	p.V209M	NM_001001933.1	NP_001001933.1	Q68G74	LHX8_HUMAN			7	1289	+			209					E9PGE3	Missense_Mutation	SNP	ENST00000294638.5	37	c.625G>A	CCDS30756.1	.	.	.	.	.	.	.	.	.	.	G	12.27	1.887659	0.33348	.	.	ENSG00000162624	ENST00000294638;ENST00000356261	D;D	0.86562	-2.14;-2.12	5.63	5.63	0.86233	.	0.110872	0.64402	D	0.000002	T	0.68293	0.2985	N	0.14661	0.345	0.42623	D	0.993358	B	0.27351	0.176	B	0.19391	0.025	T	0.68918	-0.5282	10	0.42905	T	0.14	.	15.2324	0.73401	0.0694:0.0:0.9306:0.0	.	209	Q68G74	LHX8_HUMAN	M	209;199	ENSP00000294638:V209M;ENSP00000348597:V199M	ENSP00000294638:V209M	V	+	1	0	LHX8	75382132	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	4.867000	0.63013	2.805000	0.96524	0.655000	0.94253	GTG		0.413	LHX8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000026700.1	NM_001001933		20	12	0	0	0	1	0	20	12					A	75609544	G	A	75609544	3	1	432	1	0	0	0	0	1	0	0	0	8776	1377	48	3	647	3	LHX8	1	75609544	Missense_Mutation	SNP	G	TCGA-XJ-A9DX-01A-11D-A377-08	42864211	75609544	173641077	6	20759											
MOV10	4343	broad.mit.edu	37	chr1	113238156	113238156	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctccatctaccgcctcctggCccccagcagggacatccgca	7	6	8	20	2	1	0	0	0	1	0	4	1	4	1	7	2	2	2	7	2	1	1			TCGA-XJ-A9DX-01A-11D-A377-08	TCGA-XJ-A9DX-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	955a0861-eff0-463b-908c-a108ddb4b971	c23cbbc8-b66c-4e06-8c99-00590b5ece18	g.chr1:113238156C>T	ENST00000413052.2	+	11	2129	c.1739C>T	c.(1738-1740)gCc>gTc	p.A580V	MOV10_ENST00000369644.1_Missense_Mutation_p.A524V|MOV10_ENST00000468624.1_3'UTR|MOV10_ENST00000357443.2_Missense_Mutation_p.A580V|RP11-426L16.3_ENST00000421943.1_RNA|MOV10_ENST00000369645.1_Missense_Mutation_p.A580V	NM_001130079.1|NM_020963.3	NP_001123551.1|NP_066014.1	Q9HCE1	MOV10_HUMAN	Mov10 RISC complex RNA helicase	580					epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|mRNA cleavage involved in gene silencing by miRNA (GO:0035279)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|extracellular space (GO:0005615)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|prostate(1)|skin(3)|urinary_tract(3)	38	Lung SC(450;0.246)	all_cancers(81;3.31e-11)|all_epithelial(167;5.69e-10)|all_lung(203;3.73e-05)|Breast(1374;0.000525)|Lung NSC(69;0.000954)|Ovarian(761;0.0367)|Lung SC(238;0.114)		OV - Ovarian serous cystadenocarcinoma(397;3.99e-67)|all cancers(265;1e-62)|Epithelial(280;4.78e-61)|Lung(183;0.0234)|Colorectal(144;0.0686)|READ - Rectum adenocarcinoma(129;0.0929)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|BRCA - Breast invasive adenocarcinoma(282;0.24)		CGCCTCCTGGCCCCCAGCAGG	0.597																																						ENST00000369644.1																			0				breast(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|prostate(1)|skin(3)|urinary_tract(3)	38						c.(1570-1572)gCc>gTc		Mov10, Moloney leukemia virus 10, homolog (mouse)							66	58	61					1																	113238156		2203	4300	6503	SO:0001583	missense	4343				mRNA cleavage involved in gene silencing by miRNA|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body	ATP binding|helicase activity|protein binding|RNA binding	g.chr1:113238156C>T	AL833353	CCDS853.1, CCDS65615.1	1p13.2	2014-07-02	2014-07-02		ENSG00000155363	ENSG00000155363			7200	protein-coding gene	gene with protein product	"functional spliceosome-associated protein 113"	610742	"Mov10 (Moloney leukemia virus 10, mouse) homolog", "Mov10, Moloney leukemia virus 10, homolog (mouse)"			12226669	Standard	NM_001286072		Approved	gb110, MGC2948, fSAP113	uc001eck.3	Q9HCE1	OTTHUMG00000011906	ENST00000413052.2:c.1739C>T	1.37:g.113238156C>T	ENSP00000399797:p.Ala580Val					MOV10_ENST00000357443.2_Missense_Mutation_p.A580V|MOV10_ENST00000468624.1_3'UTR|MOV10_ENST00000413052.2_Missense_Mutation_p.A580V|RP11-426L16.3_ENST00000421943.1_RNA|MOV10_ENST00000369645.1_Missense_Mutation_p.A580V	p.A524V			Q9HCE1	MOV10_HUMAN		OV - Ovarian serous cystadenocarcinoma(397;3.99e-67)|all cancers(265;1e-62)|Epithelial(280;4.78e-61)|Lung(183;0.0234)|Colorectal(144;0.0686)|READ - Rectum adenocarcinoma(129;0.0929)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|BRCA - Breast invasive adenocarcinoma(282;0.24)	12	2600	+	Lung SC(450;0.246)	all_cancers(81;3.31e-11)|all_epithelial(167;5.69e-10)|all_lung(203;3.73e-05)|Breast(1374;0.000525)|Lung NSC(69;0.000954)|Ovarian(761;0.0367)|Lung SC(238;0.114)	580					Q5JR03|Q8TEF0|Q9BSY3|Q9BUJ9	Missense_Mutation	SNP	ENST00000413052.2	37	c.1571C>T	CCDS853.1	.	.	.	.	.	.	.	.	.	.	C	36	5.792699	0.96945	.	.	ENSG00000155363	ENST00000413052;ENST00000369645;ENST00000369644;ENST00000357443;ENST00000369648	D;D;D;D	0.82433	-1.61;-1.61;-1.61;-1.61	5.67	5.67	0.87782	.	0.101356	0.64402	D	0.000002	D	0.90930	0.7149	M	0.82056	2.57	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	D	0.91268	0.5042	10	0.72032	D	0.01	-19.1957	19.3706	0.94481	0.0:1.0:0.0:0.0	.	524;580	Q5JR04;Q9HCE1	.;MOV10_HUMAN	V	580;580;524;580;518	ENSP00000399797:A580V;ENSP00000358659:A580V;ENSP00000358658:A524V;ENSP00000350028:A580V	ENSP00000350028:A580V	A	+	2	0	MOV10	113039679	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.782000	0.75073	2.676000	0.91093	0.655000	0.94253	GCC		0.597	MOV10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032906.1	NM_020963		8	17	0	0	0	1	0	8	17					T	113238156	C	T	113238156	3	4	432	1	0	0	0	0	1	0	0	0	9718	739	26	3	1777	3	MOV10	1	113238156	Missense_Mutation	SNP	C	TCGA-XJ-A9DX-01A-11D-A377-08	37628612	113238156	136012465	7	20760											
HORMAD1	84072	broad.mit.edu	37	chr1	150679186	150679187	+	Frame_Shift_Del	DEL	GA	GA	-																															tgaagatgtgaaaaggtgttGagacttctcccacatttaaa																										TCGA-XJ-A9DX-01A-11D-A377-08	TCGA-XJ-A9DX-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	955a0861-eff0-463b-908c-a108ddb4b971	c23cbbc8-b66c-4e06-8c99-00590b5ece18	g.chr1:150679186_150679187delGA	ENST00000361824.2	-	10	751_752	c.646_647delTC	c.(646-648)tcafs	p.S216fs	HORMAD1_ENST00000322343.7_Frame_Shift_Del_p.S209fs|HORMAD1_ENST00000368993.2_Frame_Shift_Del_p.S216fs|HORMAD1_ENST00000368995.4_Frame_Shift_Del_p.S136fs	NM_032132.4	NP_115508.2	Q86X24	HORM1_HUMAN	HORMA domain containing 1	216	HORMA. {ECO:0000255|PROSITE- ProRule:PRU00109}.				blastocyst development (GO:0001824)|meiotic DNA double-strand break formation (GO:0042138)|meiotic nuclear division (GO:0007126)|meiotic recombination checkpoint (GO:0051598)|meiotic sister chromatid cohesion (GO:0051177)|oogenesis (GO:0048477)|regulation of homologous chromosome segregation (GO:0060629)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)	chromosome (GO:0005694)|condensed nuclear chromosome (GO:0000794)|nucleus (GO:0005634)				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(3)	16	all_cancers(9;3.23e-52)|all_epithelial(9;4.68e-43)|all_lung(15;5.74e-35)|Lung NSC(24;2.09e-31)|Breast(34;0.0009)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;2.32e-23)|all cancers(9;5.21e-23)|OV - Ovarian serous cystadenocarcinoma(6;6.72e-15)|BRCA - Breast invasive adenocarcinoma(12;0.000479)|LUSC - Lung squamous cell carcinoma(543;0.171)			AAAAGGTGTTGAGACTTCTCCC	0.381																																						ENST00000368993.2																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(3)	16						c.(646-648)afs		HORMA domain containing 1																																				SO:0001589	frameshift_variant	84072				blastocyst development|cell differentiation|meiotic DNA double-strand break formation|meiotic recombination checkpoint|meiotic sister chromatid cohesion|mitosis|oogenesis|regulation of homologous chromosome segregation|spermatogenesis|synaptonemal complex assembly	chromosome|nucleus		g.chr1:150679186_150679187delGA	AL136755	CCDS967.1, CCDS55633.1	1q21.2	2009-03-09			ENSG00000143452	ENSG00000143452			25245	protein-coding gene	gene with protein product	"cancer/testis antigen 46"	609824				11230166, 15999985	Standard	NM_032132		Approved	DKFZP434A1315, CT46	uc001evk.2	Q86X24	OTTHUMG00000035005	ENST00000361824.2:c.646_647delTC	1.37:g.150679188_150679189delGA	ENSP00000355167:p.Ser216fs					HORMAD1_ENST00000368995.4_Frame_Shift_Del_p.S136fs|HORMAD1_ENST00000361824.2_Frame_Shift_Del_p.S216fs|HORMAD1_ENST00000322343.7_Frame_Shift_Del_p.S209fs	p.S216fs			Q86X24	HORM1_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;2.32e-23)|all cancers(9;5.21e-23)|OV - Ovarian serous cystadenocarcinoma(6;6.72e-15)|BRCA - Breast invasive adenocarcinoma(12;0.000479)|LUSC - Lung squamous cell carcinoma(543;0.171)		10	751_752	-	all_cancers(9;3.23e-52)|all_epithelial(9;4.68e-43)|all_lung(15;5.74e-35)|Lung NSC(24;2.09e-31)|Breast(34;0.0009)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		216			HORMA.		A6NMK2|B3KUK1|Q4G114|Q5T5I3|Q5T5I4|Q5T5I5|Q6FIC1|Q9H0K8	Frame_Shift_Del	DEL	ENST00000361824.2	37	c.646_647delTC	CCDS967.1																																																																																				0.381	HORMAD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000084722.1	NM_032132		81	55						81	55	---	---	---	---	-	150679187	GA	-	150679186	7	5	432	1	0	1	0	1	0	0	0	0	7286	1294	45	0	561	0	HORMAD1	1	150679186	Frame_Shift_Del	DEL	GA	TCGA-XJ-A9DX-01A-11D-A377-08	37441030	150679186	98571435	8	20761											
TCHHL1	126637	broad.mit.edu	37	chr1	152059578	152059578	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctgttgtttgtatatcttGagccacttcctgactttgtt	5	21	7	8	0	2	2	0	2	2	0	3	2	3	2	2	0	1	4	2	0	2	9			TCGA-XJ-A9DX-01A-11D-A377-08	TCGA-XJ-A9DX-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	955a0861-eff0-463b-908c-a108ddb4b971	c23cbbc8-b66c-4e06-8c99-00590b5ece18	g.chr1:152059578G>T	ENST00000368806.1	-	3	644	c.580C>A	c.(580-582)Caa>Aaa	p.Q194K		NM_001008536.1	NP_001008536.1	Q5QJ38	TCHL1_HUMAN	trichohyalin-like 1	194							calcium ion binding (GO:0005509)			breast(4)|endometrium(1)|kidney(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(1)|skin(7)|stomach(1)	60	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.246)			TGTATATCTTGAGCCACTTCC	0.438																																						ENST00000368806.1																			0				breast(4)|endometrium(1)|kidney(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(1)|skin(7)|stomach(1)	60						c.(580-582)Caa>Aaa		trichohyalin-like 1							157	142	147					1																	152059578		2203	4300	6503	SO:0001583	missense	126637						calcium ion binding	g.chr1:152059578G>T		CCDS30857.1	1q21.3	2011-10-11	2004-10-05	2006-01-27	ENSG00000182898	ENSG00000182898		"S100 calcium binding proteins"	31796	protein-coding gene	gene with protein product			"S100 calcium binding protein A17"	S100A17, THHL1			Standard	NM_001008536		Approved		uc001ezo.1	Q5QJ38	OTTHUMG00000013058	ENST00000368806.1:c.580C>A	1.37:g.152059578G>T	ENSP00000357796:p.Gln194Lys						p.Q194K	NM_001008536.1	NP_001008536.1	Q5QJ38	TCHL1_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.246)		3	644	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		194					B2RPK8|Q5VTJ9	Missense_Mutation	SNP	ENST00000368806.1	37	c.580C>A	CCDS30857.1	.	.	.	.	.	.	.	.	.	.	.	17.40	3.380589	0.61845	.	.	ENSG00000182898	ENST00000368806	T	0.33216	1.42	5.39	4.45	0.53987	.	0.193935	0.25622	N	0.029401	T	0.27866	0.0686	M	0.66939	2.045	0.09310	N	1	D	0.61080	0.989	P	0.55508	0.777	T	0.10474	-1.0628	10	0.16420	T	0.52	-1.4299	12.2668	0.54683	0.0:0.1696:0.8304:0.0	.	194	Q5QJ38	TCHL1_HUMAN	K	194	ENSP00000357796:Q194K	ENSP00000357796:Q194K	Q	-	1	0	TCHHL1	150326202	0.540000	0.26410	0.065000	0.19835	0.125000	0.20455	2.646000	0.46630	2.513000	0.84729	0.563000	0.77884	CAA		0.438	TCHHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036638.2	XM_060104		10	165	1	0	0.000673444	1	0.000697496	10	165					T	152059578	G	T	152059578	3	4	432	1	0	0	0	0	1	0	0	0	15698	1299	45	5	2138	5	TCHHL1	1	152059578	Missense_Mutation	SNP	G	TCGA-XJ-A9DX-01A-11D-A377-08	1380392	152059578	97191043	9	20762											
B3GALT2	8707	broad.mit.edu	37	chr1	193150245	193150245	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tagtagtattaaaaaaggacTtttctcttggcatttttcag	12	17	7	5	0	2	0	1	0	1	0	3	1	2	1	0	2	0	3	0	2	6	9			TCGA-XJ-A9DX-01A-11D-A377-08	TCGA-XJ-A9DX-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	955a0861-eff0-463b-908c-a108ddb4b971	c23cbbc8-b66c-4e06-8c99-00590b5ece18	g.chr1:193150245T>C	ENST00000367434.4	-	2	1203	c.448A>G	c.(448-450)Agt>Ggt	p.S150G	CDC73_ENST00000367435.3_Intron	NM_003783.3	NP_003774.1	O43825	B3GT2_HUMAN	UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 2	150					oligosaccharide biosynthetic process (GO:0009312)|protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity (GO:0008499)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)	16						AAAAAAGGACTTTTCTCTTGG	0.363																																						ENST00000367434.4																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)	16						c.(448-450)Agt>Ggt		UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 2							97	103	101					1																	193150245		2203	4299	6502	SO:0001583	missense	8707				protein glycosylation	Golgi membrane|integral to membrane	UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity	g.chr1:193150245T>C	Y15060	CCDS1383.1	1q31	2013-02-19			ENSG00000162630	ENSG00000162630		"Beta 3-glycosyltransferases"	917	protein-coding gene	gene with protein product		603018				9582303, 9417100	Standard	NM_003783		Approved	beta3Gal-T2	uc001gtc.4	O43825	OTTHUMG00000035687	ENST00000367434.4:c.448A>G	1.37:g.193150245T>C	ENSP00000356404:p.Ser150Gly					CDC73_ENST00000367435.3_Intron	p.S150G	NM_003783.3	NP_003774.1	O43825	B3GT2_HUMAN			2	1203	-			150					B2RAB1|Q9BZQ9	Missense_Mutation	SNP	ENST00000367434.4	37	c.448A>G	CCDS1383.1	.	.	.	.	.	.	.	.	.	.	T	6.448	0.450731	0.12223	.	.	ENSG00000162630	ENST00000367434	T	0.39056	1.1	5.39	4.25	0.50352	.	0.751959	0.13235	N	0.403295	T	0.30634	0.0771	L	0.34521	1.04	0.25716	N	0.985428	B	0.02656	0.0	B	0.04013	0.001	T	0.18999	-1.0319	10	0.26408	T	0.33	.	8.7118	0.34389	0.0:0.0687:0.1291:0.8022	.	150	O43825	B3GT2_HUMAN	G	150	ENSP00000356404:S150G	ENSP00000356404:S150G	S	-	1	0	B3GALT2	191416868	0.982000	0.34865	0.788000	0.31933	0.888000	0.51559	2.649000	0.46656	0.967000	0.38186	0.533000	0.62120	AGT		0.363	B3GALT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086759.1	NM_003783		24	64	0	0	0	1	0	24	64					C	193150245	T	C	193150245	3	2	432	1	0	0	0	0	1	0	0	0	1248	1609	56	4	824	4	B3GALT2	1	193150245	Missense_Mutation	SNP	T	TCGA-XJ-A9DX-01A-11D-A377-08	41090667	193150245	56100376	10	20763											
FAM84A	151354	broad.mit.edu	37	chr2	14774426	14774426	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tggccctcagggcgccgaccTaagcgtctacgcggtcaccg	6	6	13	16	6	3	0	2	0	1	0	3	1	3	0	4	3	2	0	4	3	2	2			TCGA-XJ-A9DX-01A-11D-A377-08	TCGA-XJ-A9DX-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	955a0861-eff0-463b-908c-a108ddb4b971	c23cbbc8-b66c-4e06-8c99-00590b5ece18	g.chr2:14774426T>C	ENST00000295092.2	+	2	611	c.323T>C	c.(322-324)cTa>cCa	p.L108P	AC011897.1_ENST00000581929.1_5'Flank|FAM84A_ENST00000331243.4_Missense_Mutation_p.L108P	NM_145175.2	NP_660158.2	Q96KN4	FA84A_HUMAN	family with sequence similarity 84, member A	108										endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|upper_aerodigestive_tract(1)	10	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.197)		GBM - Glioblastoma multiforme(1;0.00969)			GGCGCCGACCTAAGCGTCTAC	0.687																																						ENST00000295092.2																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|upper_aerodigestive_tract(1)	10						c.(322-324)cTa>cCa		family with sequence similarity 84, member A							11	12	12					2																	14774426		2192	4273	6465	SO:0001583	missense	151354							g.chr2:14774426T>C	AJ417080, BC026346	CCDS1684.1	2p24.3	2005-08-09			ENSG00000162981	ENSG00000162981			20743	protein-coding gene	gene with protein product	"neurological/sensory 1"	611234				14702039	Standard	NM_145175		Approved	NSE1, FLJ35392	uc002rbz.2	Q96KN4	OTTHUMG00000119093	ENST00000295092.2:c.323T>C	2.37:g.14774426T>C	ENSP00000295092:p.Leu108Pro					FAM84A_ENST00000331243.4_Missense_Mutation_p.L108P	p.L108P	NM_145175.2	NP_660158.2	Q96KN4	FA84A_HUMAN	GBM - Glioblastoma multiforme(1;0.00969)		2	611	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.197)		108					A6NP76|Q86UZ2|Q8NAH7|Q8TAM5	Missense_Mutation	SNP	ENST00000295092.2	37	c.323T>C	CCDS1684.1	.	.	.	.	.	.	.	.	.	.	T	19.34	3.809612	0.70797	.	.	ENSG00000162981	ENST00000295092;ENST00000331243;ENST00000359969	T;T	0.12672	2.66;2.66	4.96	3.77	0.43336	.	0.000000	0.64402	D	0.000001	T	0.18425	0.0442	L	0.38175	1.15	0.80722	D	1	P	0.52463	0.953	P	0.52109	0.69	T	0.00770	-1.1573	10	0.87932	D	0	-5.7575	11.2312	0.48914	0.0:0.0:0.1538:0.8462	.	108	Q96KN4	FA84A_HUMAN	P	108	ENSP00000295092:L108P;ENSP00000330681:L108P	ENSP00000295092:L108P	L	+	2	0	FAM84A	14691877	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.883000	0.63128	0.786000	0.33708	0.533000	0.62120	CTA		0.687	FAM84A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239308.2	NM_145175		6	5	0	0	0	1	0	6	5					C	14774426	T	C	14774426	3	2	432	1	0	0	0	0	1	0	0	0	5641	1522	53	4	325	4	FAM84A	2	14774426	Missense_Mutation	SNP	T	TCGA-XJ-A9DX-01A-11D-A377-08		14774426	228424947	11	20764											
ATP6V1B1	525	broad.mit.edu	37	chr2	71190765	71190765	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gggacagatctacgtggacaGacagcttcacaacagacagg	14	5	12	10	1	2	3	1	0	1	3	2	5	2	5	0	3	3	1	0	3	2	2			TCGA-XJ-A9DX-01A-11D-A377-08	TCGA-XJ-A9DX-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	955a0861-eff0-463b-908c-a108ddb4b971	c23cbbc8-b66c-4e06-8c99-00590b5ece18	g.chr2:71190765G>A	ENST00000234396.4	+	11	1197	c.1124G>A	c.(1123-1125)aGa>aAa	p.R375K	AC007040.11_ENST00000606025.1_Intron|ATP6V1B1_ENST00000412314.1_Missense_Mutation_p.R358K|RN7SL160P_ENST00000468558.2_RNA	NM_001692.3	NP_001683.2	P15313	VATB1_HUMAN	ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B1	375					ATP hydrolysis coupled proton transport (GO:0015991)|ATP metabolic process (GO:0046034)|calcium ion homeostasis (GO:0055074)|cellular iron ion homeostasis (GO:0006879)|excretion (GO:0007588)|inner ear morphogenesis (GO:0042472)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|ossification (GO:0001503)|pH reduction (GO:0045851)|phagosome maturation (GO:0090382)|proton transport (GO:0015992)|regulation of pH (GO:0006885)|sensory perception of sound (GO:0007605)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lateral plasma membrane (GO:0016328)|microvillus (GO:0005902)|proton-transporting V-type ATPase, V1 domain (GO:0033180)|vacuolar proton-transporting V-type ATPase complex (GO:0016471)	ATP binding (GO:0005524)|hydrogen ion transmembrane transporter activity (GO:0015078)|hydrolase activity, acting on acid anhydrides, catalyzing transmembrane movement of substances (GO:0016820)			endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|prostate(1)|skin(1)	19						TACGTGGACAGACAGCTTCAC	0.547																																						ENST00000234396.4																			0				endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|prostate(1)|skin(1)	19						c.(1123-1125)aGa>aAa		ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B1							169	123	138					2																	71190765		2203	4300	6503	SO:0001583	missense	525				ATP hydrolysis coupled proton transport|calcium ion homeostasis|cellular iron ion homeostasis|excretion|inner ear morphogenesis|insulin receptor signaling pathway|ossification|pH reduction|sensory perception of sound|transferrin transport	apical plasma membrane|basolateral plasma membrane|cytosol|endomembrane system|lateral plasma membrane|microvillus|proton-transporting V-type ATPase, V1 domain|vacuolar proton-transporting V-type ATPase complex	ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism	g.chr2:71190765G>A	AF107466	CCDS1912.1	2p13	2010-04-21	2008-07-31	2002-05-10	ENSG00000116039	ENSG00000116039	3.6.3.14	"ATPases / V-type"	853	protein-coding gene	gene with protein product	"Renal tubular acidosis with deafness"	192132	"vacuolar proton pump 3"	VPP3, ATP6B1		9916796, 2527371	Standard	XM_005264368		Approved	VATB, RTA1B, Vma2	uc002shj.3	P15313	OTTHUMG00000129711	ENST00000234396.4:c.1124G>A	2.37:g.71190765G>A	ENSP00000234396:p.Arg375Lys					AC007040.11_ENST00000606025.1_Intron|ATP6V1B1_ENST00000412314.1_Missense_Mutation_p.R358K	p.R375K	NM_001692.3	NP_001683.2	P15313	VATB1_HUMAN			11	1197	+			375					Q53FY0|Q6P4H6	Missense_Mutation	SNP	ENST00000234396.4	37	c.1124G>A	CCDS1912.1	.	.	.	.	.	.	.	.	.	.	G	19.57	3.853027	0.71719	.	.	ENSG00000116039	ENST00000234396;ENST00000483246;ENST00000412314	D;D	0.83673	-1.75;-1.75	4.73	4.73	0.59995	ATPase, F1/V1/A1 complex, alpha/beta subunit, nucleotide-binding domain (1);	0.000000	0.64402	D	0.000002	D	0.83372	0.5240	M	0.71871	2.18	0.58432	D	0.999994	B;B;B	0.17038	0.006;0.005;0.02	B;B;B	0.27796	0.034;0.083;0.079	T	0.82466	-0.0443	10	0.72032	D	0.01	-34.684	15.2381	0.73447	0.0:0.0:1.0:0.0	.	350;358;375	B4DWH7;C9JL73;P15313	.;.;VATB1_HUMAN	K	375;350;358	ENSP00000234396:R375K;ENSP00000388353:R358K	ENSP00000234396:R375K	R	+	2	0	ATP6V1B1	71044273	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.603000	0.98315	2.470000	0.83445	0.655000	0.94253	AGA		0.547	ATP6V1B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251920.2	NM_001692		7	31	0	0	0	1	0	7	31					A	71190765	G	A	71190765	3	1	432	1	0	0	0	0	1	0	0	0	1178	942	33	3	1166	3	ATP6V1B1	2	71190765	Missense_Mutation	SNP	G	TCGA-XJ-A9DX-01A-11D-A377-08	56416339	71190765	172008608	12	20765											
EXOC6B	23233	broad.mit.edu	37	chr2	72958290	72958290	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttccagttcctcacctggaaGacacagcattaatttatcaa	13	12	5	11	0	2	1	2	0	0	1	4	2	4	2	3	1	1	2	3	1	4	5			TCGA-XJ-A9DX-01A-11D-A377-08	TCGA-XJ-A9DX-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	955a0861-eff0-463b-908c-a108ddb4b971	c23cbbc8-b66c-4e06-8c99-00590b5ece18	g.chr2:72958290G>A	ENST00000272427.6	-	4	542	c.412C>T	c.(412-414)Ctt>Ttt	p.L138F	EXOC6B_ENST00000410104.1_Missense_Mutation_p.L138F	NM_015189.1	NP_056004.1	Q9Y2D4	EXC6B_HUMAN	exocyst complex component 6B	138					protein transport (GO:0015031)|vesicle docking involved in exocytosis (GO:0006904)	exocyst (GO:0000145)				breast(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)	10						TCACCTGGAAGACACAGCATT	0.368																																						ENST00000272427.6																			0				breast(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)	10						c.(412-414)Ctt>Ttt		exocyst complex component 6B							62	58	59					2																	72958290		1842	4089	5931	SO:0001583	missense	23233				protein transport|vesicle docking involved in exocytosis	exocyst		g.chr2:72958290G>A	AB023136	CCDS46333.1	2p13.2	2013-01-22	2006-11-07	2006-11-07	ENSG00000144036	ENSG00000144036			17085	protein-coding gene	gene with protein product		607880	"SEC15-like 2 (S. cerevisiae)", "SEC15 homolog B (S. cerevisiae)"	SEC15L2, SEC15B		10231032, 11406615	Standard	NM_015189		Approved	KIAA0919	uc010fep.3	Q9Y2D4	OTTHUMG00000152723	ENST00000272427.6:c.412C>T	2.37:g.72958290G>A	ENSP00000272427:p.Leu138Phe					EXOC6B_ENST00000410104.1_Missense_Mutation_p.L138F	p.L138F	NM_015189.1	NP_056004.1	Q9Y2D4	EXC6B_HUMAN			4	542	-			138					B8ZZY3	Missense_Mutation	SNP	ENST00000272427.6	37	c.412C>T	CCDS46333.1	.	.	.	.	.	.	.	.	.	.	G	19.49	3.837220	0.71373	.	.	ENSG00000144036	ENST00000272427;ENST00000410104;ENST00000290144	D;D	0.99701	-6.45;-6.45	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	D	0.99680	0.9880	M	0.84326	2.69	0.80722	D	1	D;P	0.65815	0.995;0.686	D;P	0.72982	0.979;0.49	D	0.97882	1.0292	10	0.66056	D	0.02	.	17.0174	0.86423	0.0:0.0:1.0:0.0	.	138;138	Q9Y2D4;Q9Y2D4-2	EXC6B_HUMAN;.	F	138	ENSP00000272427:L138F;ENSP00000386698:L138F	ENSP00000272427:L138F	L	-	1	0	EXOC6B	72811798	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.365000	0.66116	2.803000	0.96430	0.655000	0.94253	CTT		0.368	EXOC6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327558.1	XM_039570		5	13	0	0	0	1	0	5	13					A	72958290	G	A	72958290	3	1	432	1	0	0	0	0	1	0	0	0	5309	942	33	3	2099	3	EXOC6B	2	72958290	Missense_Mutation	SNP	G	TCGA-XJ-A9DX-01A-11D-A377-08	1767525	72958290	170241083	13	20766											
RETSAT	54884	broad.mit.edu	37	chr2	85573211	85573211	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctcatgccccttcttcacaCtgacacctgcaggcacaaga	10	8	7	16	0	3	2	2	1	1	1	3	2	3	2	3	1	2	3	3	1	1	2			TCGA-XJ-A9DX-01A-11D-A377-08	TCGA-XJ-A9DX-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	955a0861-eff0-463b-908c-a108ddb4b971	c23cbbc8-b66c-4e06-8c99-00590b5ece18	g.chr2:85573211C>A	ENST00000295802.4	-	6	1116	c.1004G>T	c.(1003-1005)aGt>aTt	p.S335I	RETSAT_ENST00000475624.2_5'UTR|RETSAT_ENST00000457495.2_Missense_Mutation_p.S274I|RETSAT_ENST00000263854.6_Missense_Mutation_p.S335I	NM_017750.3	NP_060220.3	Q6NUM9	RETST_HUMAN	retinol saturase (all-trans-retinol 13,14-reductase)	335					oxidation-reduction process (GO:0055114)|retinol metabolic process (GO:0042572)	endoplasmic reticulum membrane (GO:0005789)|membrane (GO:0016020)|nuclear membrane (GO:0031965)|nuclear outer membrane (GO:0005640)	all-trans-retinol 13,14-reductase activity (GO:0051786)|oxidoreductase activity (GO:0016491)			NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	30					Vitamin A(DB00162)	CTTCTTCACACTGACACCTGC	0.572																																						ENST00000295802.4																			0				NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	30						c.(1003-1005)aGt>aTt		retinol saturase (all-trans-retinol 13,14-reductase)	Vitamin A(DB00162)						147	133	138					2																	85573211		2203	4300	6503	SO:0001583	missense	54884				retinol metabolic process	endoplasmic reticulum membrane|nuclear outer membrane	all-trans-retinol 13,14-reductase activity|electron carrier activity	g.chr2:85573211C>A	AK075261	CCDS1972.1	2p11.2	2008-02-05			ENSG00000042445	ENSG00000042445	1.3.99.23		25991	protein-coding gene	gene with protein product						12975309, 15358783	Standard	NM_017750		Approved	FLJ20296	uc002spd.3	Q6NUM9	OTTHUMG00000154611	ENST00000295802.4:c.1004G>T	2.37:g.85573211C>A	ENSP00000295802:p.Ser335Ile					RETSAT_ENST00000475624.2_5'UTR|RETSAT_ENST00000457495.2_Missense_Mutation_p.S274I|RETSAT_ENST00000263854.6_Missense_Mutation_p.S335I	p.S335I	NM_017750.3	NP_060220.3	Q6NUM9	RETST_HUMAN			6	1116	-			335					A6NIK3|Q53R95|Q53SA9|Q6UX05|Q8N2H5|Q96FA4|Q9NXE5	Missense_Mutation	SNP	ENST00000295802.4	37	c.1004G>T	CCDS1972.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.70|14.70	2.615015|2.615015	0.46631|0.46631	.|.	.|.	ENSG00000042445|ENSG00000042445	ENST00000295802;ENST00000263854;ENST00000457495|ENST00000449375	T;T;T|.	0.58506|.	0.33;0.33;0.33|.	5.65|5.65	3.86|3.86	0.44501|0.44501	.|.	0.126189|.	0.64402|.	D|.	0.000001|.	T|T	0.62208|0.62208	0.2409|0.2409	M|M	0.64997|0.64997	1.995|1.995	0.41010|0.41010	D|D	0.984997|0.984997	B;B;B|.	0.20988|.	0.024;0.05;0.036|.	B;B;B|.	0.25506|.	0.061;0.061;0.028|.	T|T	0.60021|0.60021	-0.7344|-0.7344	10|5	0.34782|.	T|.	0.22|.	-5.4458|-5.4458	9.3776|9.3776	0.38292|0.38292	0.1417:0.522:0.3363:0.0|0.1417:0.522:0.3363:0.0	.|.	274;274;335|.	G5E9N3;B4DKE1;Q6NUM9|.	.;.;RETST_HUMAN|.	I|L	335;335;274|124	ENSP00000295802:S335I;ENSP00000263854:S335I;ENSP00000405040:S274I|.	ENSP00000263854:S335I|.	S|V	-|-	2|1	0|0	RETSAT|RETSAT	85426722|85426722	0.019000|0.019000	0.18553|0.18553	0.999000|0.999000	0.59377|0.59377	0.992000|0.992000	0.81027|0.81027	0.342000|0.342000	0.19926|0.19926	0.737000|0.737000	0.32582|0.32582	0.467000|0.467000	0.42956|0.42956	AGT|GTG		0.572	RETSAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252489.1	NM_017750		9	81	1	0	1.58986e-06	1	1.72898e-06	9	81					A	85573211	C	A	85573211	3	1	432	1	0	0	0	0	1	0	0	0	13238	565	20	5	852	5	RETSAT	2	85573211	Missense_Mutation	SNP	C	TCGA-XJ-A9DX-01A-11D-A377-08	12614921	85573211	157626162	14	20767											
CCR8	1237	broad.mit.edu	37	chr3	39374260	39374260	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tatgccctaaaggtgaggacGatcaggatgggcacaacgct	12	7	13	9	2	1	1	1	1	0	0	1	4	1	3	1	4	2	2	1	4	4	2			TCGA-XJ-A9DX-01A-11D-A377-08	TCGA-XJ-A9DX-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	955a0861-eff0-463b-908c-a108ddb4b971	c23cbbc8-b66c-4e06-8c99-00590b5ece18	g.chr3:39374260G>A	ENST00000326306.4	+	2	576	c.438G>A	c.(436-438)acG>acA	p.T146T	CCR8_ENST00000545843.1_Silent_p.T63T|CCR8_ENST00000414803.1_Missense_Mutation_p.D89N	NM_005201.3	NP_005192.1	P51685	CCR8_HUMAN	chemokine (C-C motif) receptor 8	146					cell adhesion (GO:0007155)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|positive regulation of cytosolic calcium ion concentration (GO:0007204)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	C-C chemokine receptor activity (GO:0016493)|chemokine receptor activity (GO:0004950)|coreceptor activity (GO:0015026)			NS(3)|breast(1)|endometrium(3)|large_intestine(5)|lung(7)|ovary(1)|skin(1)	21				KIRC - Kidney renal clear cell carcinoma(284;0.0504)|Kidney(284;0.0635)		AGGTGAGGACGATCAGGATGG	0.507																																						ENST00000414803.1																			0				NS(3)|breast(1)|endometrium(3)|large_intestine(5)|lung(7)|ovary(1)|skin(1)	21						c.(265-267)Gat>Aat		chemokine (C-C motif) receptor 8							233	208	216					3																	39374260		2203	4300	6503	SO:0001819	synonymous_variant	1237				cell adhesion|chemotaxis|elevation of cytosolic calcium ion concentration|immune response	integral to plasma membrane	coreceptor activity	g.chr3:39374260G>A	D49919	CCDS2684.1	3p22	2012-08-08			ENSG00000179934	ENSG00000179934		"GPCR / Class A : Chemokine receptors : C-C motif", "CD molecules"	1609	protein-coding gene	gene with protein product		601834		CMKBRL2, CMKBR8		8816377, 8886020	Standard	NM_005201		Approved	CY6, TER1, CKR-L1, GPR-CY6, CDw198	uc010hhr.2	P51685	OTTHUMG00000131290	ENST00000326306.4:c.438G>A	3.37:g.39374260G>A						CCR8_ENST00000326306.4_Silent_p.T146T|CCR8_ENST00000545843.1_Silent_p.T63T	p.D89N			P51685	CCR8_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0504)|Kidney(284;0.0635)	3	336	+			0					B2RC64|Q3KNQ8|Q3KNR3|Q9BYX5	Missense_Mutation	SNP	ENST00000326306.4	37	c.265G>A	CCDS2684.1	.	.	.	.	.	.	.	.	.	.	G	2.700	-0.271103	0.05716	.	.	ENSG00000179934	ENST00000414803	T	0.15952	2.38	4.76	-9.53	0.00575	.	.	.	.	.	T	0.15912	0.0383	.	.	.	0.58432	D	0.999991	.	.	.	.	.	.	T	0.51718	-0.8670	6	0.87932	D	0	.	2.6068	0.04880	0.3376:0.0753:0.3613:0.2258	.	.	.	.	N	89	ENSP00000390104:D89N	ENSP00000390104:D89N	D	+	1	0	CCR8	39349264	0.000000	0.05858	0.000000	0.03702	0.125000	0.20455	-3.785000	0.00367	-2.694000	0.00402	-0.768000	0.03414	GAT		0.507	CCR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254058.2	NM_005201		4	150	0	0	0	1	0	4	150					A	39374260	G	A	39374260	2	1	432	1	0	0	0	0	0	0	0	1	2947	1045	37	2		2	CCR8	3	39374260	Silent	SNP	G	TCGA-XJ-A9DX-01A-11D-A377-08		39374260	158648170	15	20768											
BSN	8927	broad.mit.edu	37	chr3	49700781	49700781	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctcccggcaagcccactcCgggcccgctgcactgcagtc	5	5	12	19	3	0	0	0	0	0	0	3	0	2	0	4	3	3	5	4	3	1	0	rs367558667		TCGA-XJ-A9DX-01A-11D-A377-08	TCGA-XJ-A9DX-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	955a0861-eff0-463b-908c-a108ddb4b971	c23cbbc8-b66c-4e06-8c99-00590b5ece18	g.chr3:49700781C>T	ENST00000296452.4	+	7	11304	c.11190C>T	c.(11188-11190)tcC>tcT	p.S3730S		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	3730					synaptic transmission (GO:0007268)	axon (GO:0030424)|cell junction (GO:0030054)|dendrite (GO:0030425)|neuron projection terminus (GO:0044306)|nucleus (GO:0005634)|presynaptic cytoskeletal matrix assembled at active zones (GO:0048788)	metal ion binding (GO:0046872)			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		AAGCCCACTCCGGGCCCGCTG	0.622																																						ENST00000296452.4																			0				breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106						c.(11188-11190)tcC>tcT		bassoon presynaptic cytomatrix protein		C		1,4405	2.1+/-5.4	0,1,2202	62	65	64		11190	-10	0	3		64	0,8600		0,0,4300	no	coding-synonymous	BSN	NM_003458.3		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		3730/3927	49700781	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	8927				synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding	g.chr3:49700781C>T	AF052224	CCDS2800.1	3p21	2013-01-07	2013-01-07		ENSG00000164061	ENSG00000164061			1117	protein-coding gene	gene with protein product	"zinc finger protein 231", "neuronal double zinc finger protein"	604020	"bassoon (presynaptic cytomatrix protein)"	ZNF231		9806829, 10329005	Standard	NM_003458		Approved		uc003cxe.4	Q9UPA5	OTTHUMG00000133750	ENST00000296452.4:c.11190C>T	3.37:g.49700781C>T							p.S3730S	NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN		BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)	7	11304	+			3730					O43161|Q7LGH3	Silent	SNP	ENST00000296452.4	37	c.11190C>T	CCDS2800.1																																																																																				0.622	BSN-001	KNOWN	NMD_exception|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000258164.1	NM_003458		6	54	0	0	0	1	0	6	54					T	49700781	C	T	49700781	2	4	432	1	0	0	0	0	0	0	0	1	1530	639	23	2		2	BSN	3	49700781	Silent	SNP	C	TCGA-XJ-A9DX-01A-11D-A377-08	10326521	49700781	148321649	16	20769											
ZBED2	79413	broad.mit.edu	37	chr3	111312954	111312954	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	caaaagggccaaccagttctCctgtctcactaatctcttcc	10	11	5	15	0	3	0	1	0	3	0	7	0	4	0	4	1	1	1	4	1	4	3			TCGA-XJ-A9DX-01A-11D-A377-08	TCGA-XJ-A9DX-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	955a0861-eff0-463b-908c-a108ddb4b971	c23cbbc8-b66c-4e06-8c99-00590b5ece18	g.chr3:111312954C>T	ENST00000317012.4	-	2	1103	c.95G>A	c.(94-96)gGa>gAa	p.G32E	CD96_ENST00000438817.2_Intron|CD96_ENST00000352690.4_Intron|CD96_ENST00000283285.5_Intron	NM_024508.4	NP_078784.2	Q9BTP6	ZBED2_HUMAN	zinc finger, BED-type containing 2	32							DNA binding (GO:0003677)|metal ion binding (GO:0046872)			large_intestine(3)|lung(1)|skin(2)	6						AACCAGTTCTCCTGTCTCACT	0.522																																						ENST00000317012.4																			0				large_intestine(3)|lung(1)|skin(2)	6						c.(94-96)gGa>gAa		zinc finger, BED-type containing 2							266	219	235					3																	111312954		2203	4300	6503	SO:0001583	missense	79413						DNA binding|metal ion binding	g.chr3:111312954C>T	BC003536	CCDS2960.2	3p13-q13.2	2013-05-03			ENSG00000177494	ENSG00000177494		"Zinc fingers, BED-type"	20710	protein-coding gene	gene with protein product		615246				23533661	Standard	NM_024508		Approved	MGC10796	uc003dxy.3	Q9BTP6	OTTHUMG00000074061	ENST00000317012.4:c.95G>A	3.37:g.111312954C>T	ENSP00000321370:p.Gly32Glu					CD96_ENST00000438817.2_Intron|CD96_ENST00000283285.5_Intron|CD96_ENST00000352690.4_Intron	p.G32E	NM_024508.4	NP_078784.2	Q9BTP6	ZBED2_HUMAN			2	1103	-			32					D3DN62	Missense_Mutation	SNP	ENST00000317012.4	37	c.95G>A	CCDS2960.2	.	.	.	.	.	.	.	.	.	.	C	9.360	1.067688	0.20067	.	.	ENSG00000177494	ENST00000317012	.	.	.	3.16	1.25	0.21368	.	.	.	.	.	T	0.24005	0.0581	N	0.24115	0.695	0.09310	N	1	B	0.12630	0.006	B	0.14578	0.011	T	0.21518	-1.0243	8	0.24483	T	0.36	.	4.4441	0.11588	0.0:0.6318:0.2321:0.1361	.	32	Q9BTP6	ZBED2_HUMAN	E	32	.	ENSP00000321370:G32E	G	-	2	0	ZBED2	112795644	0.019000	0.18553	0.036000	0.18154	0.190000	0.23558	0.738000	0.26158	0.164000	0.19529	-0.251000	0.11542	GGA		0.522	ZBED2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157228.2	NM_024508		20	23	0	0	0	1	0	20	23					T	111312954	C	T	111312954	3	4	432	1	0	0	0	0	1	0	0	0	17515	855	30	3	565	3	ZBED2	3	111312954	Missense_Mutation	SNP	C	TCGA-XJ-A9DX-01A-11D-A377-08	61612173	111312954	86709476	17	20770											
ZNF148	7707	broad.mit.edu	37	chr3	124953120	124953120	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctcttatgcctttccatatGatatttttgtatgaatctca	9	20	4	8	0	2	2	1	2	2	0	5	2	3	2	2	0	1	1	2	0	5	7			TCGA-XJ-A9DX-01A-11D-A377-08	TCGA-XJ-A9DX-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	955a0861-eff0-463b-908c-a108ddb4b971	c23cbbc8-b66c-4e06-8c99-00590b5ece18	g.chr3:124953120G>T	ENST00000360647.4	-	8	1206	c.721C>A	c.(721-723)Cat>Aat	p.H241N	ZNF148_ENST00000497929.1_5'UTR|SLC12A8_ENST00000423114.2_Intron|ZNF148_ENST00000468369.1_Intron|ZNF148_ENST00000544464.1_Intron|ZNF148_ENST00000485866.1_Missense_Mutation_p.H241N|ZNF148_ENST00000484491.1_Missense_Mutation_p.H241N|ZNF148_ENST00000492394.1_Missense_Mutation_p.H241N	NM_021964.2	NP_068799.2	Q9UQR1	ZN148_HUMAN	zinc finger protein 148	241					cellular defense response (GO:0006968)|gamete generation (GO:0007276)|negative regulation of gene expression (GO:0010629)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein complex assembly (GO:0006461)|substantia nigra development (GO:0021762)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			breast(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(3)|liver(1)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3)	28						CTTTCCATATGATATTTTTGT	0.313																																						ENST00000360647.4																			0				breast(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(3)|liver(1)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3)	28						c.(721-723)Cat>Aat		zinc finger protein 148							116	118	117					3																	124953120		2203	4297	6500	SO:0001583	missense	7707				cellular defense response|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	Golgi apparatus|nucleus	protein binding|sequence-specific DNA binding|zinc ion binding	g.chr3:124953120G>T	U09851	CCDS3031.1	3q21.2	2013-01-08	2006-06-13		ENSG00000163848	ENSG00000163848		"Zinc fingers, C2H2-type"	12933	protein-coding gene	gene with protein product		601897	"zinc finger protein 148 (pHZ-52)"			7557990, 9925940	Standard	NM_021964		Approved	BERF-1, ZBP-89, BFCOL1, HT-BETA, ZFP148, pHZ-52	uc003ehx.4	Q9UQR1	OTTHUMG00000159448	ENST00000360647.4:c.721C>A	3.37:g.124953120G>T	ENSP00000353863:p.His241Asn					ZNF148_ENST00000544464.1_Intron|ZNF148_ENST00000468369.1_Intron|ZNF148_ENST00000492394.1_Missense_Mutation_p.H241N|ZNF148_ENST00000484491.1_Missense_Mutation_p.H241N|ZNF148_ENST00000497929.1_5'UTR|SLC12A8_ENST00000423114.2_Intron|ZNF148_ENST00000485866.1_Missense_Mutation_p.H241N	p.H241N	NM_021964.2	NP_068799.2	Q9UQR1	ZN148_HUMAN			8	1206	-			241					D3DN27|O00389|O43591|Q58EY5|Q6PJ98	Missense_Mutation	SNP	ENST00000360647.4	37	c.721C>A	CCDS3031.1	.	.	.	.	.	.	.	.	.	.	G	17.76	3.468277	0.63625	.	.	ENSG00000163848	ENST00000360647;ENST00000484491;ENST00000492394;ENST00000485866;ENST00000543574	T;T;T;T	0.60040	0.22;0.22;0.22;0.22	5.32	4.42	0.53409	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.48077	0.1480	N	0.15975	0.35	0.80722	D	1	P	0.42620	0.785	P	0.46585	0.521	T	0.53683	-0.8404	10	0.56958	D	0.05	-17.8645	14.5566	0.68103	0.0716:0.0:0.9284:0.0	.	241	Q9UQR1	ZN148_HUMAN	N	241	ENSP00000353863:H241N;ENSP00000420335:H241N;ENSP00000419322:H241N;ENSP00000420448:H241N	ENSP00000353863:H241N	H	-	1	0	ZNF148	126435810	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.810000	0.86072	2.764000	0.94973	0.650000	0.86243	CAT		0.313	ZNF148-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355452.4	NM_021964		25	112	1	0	1.66031e-10	1	1.90061e-10	25	112					T	124953120	G	T	124953120	3	4	432	1	0	0	0	0	1	0	0	0	17731	1290	45	5	1671	5	ZNF148	3	124953120	Missense_Mutation	SNP	G	TCGA-XJ-A9DX-01A-11D-A377-08	13640166	124953120	73069310	18	20771											
CSN2	1447	broad.mit.edu	37	chr4	70823037	70823037	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtggctgagtcacagggtaGatctggtgggtggggttaag	8	10	19	4	0	2	2	1	1	1	1	2	2	2	2	0	6	0	3	0	6	2	2	rs563592227		TCGA-XJ-A9DX-01A-11D-A377-08	TCGA-XJ-A9DX-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	955a0861-eff0-463b-908c-a108ddb4b971	c23cbbc8-b66c-4e06-8c99-00590b5ece18	g.chr4:70823037G>T	ENST00000353151.3	-	5	641	c.630C>A	c.(628-630)atC>atA	p.I210I		NM_001891.2	NP_001882.1	P61201	CSN2_HUMAN	casein beta	0					cell proliferation (GO:0008283)|cullin deneddylation (GO:0010388)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron differentiation (GO:0030182)|signal transduction (GO:0007165)|skeletal muscle cell differentiation (GO:0035914)|transcription from RNA polymerase II promoter (GO:0006366)	COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)	signal transducer activity (GO:0004871)|transcription corepressor activity (GO:0003714)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|skin(2)	12						TCACAGGGTAGATCTGGTGGG	0.493																																						ENST00000353151.3																			0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|skin(2)	12						c.(628-630)atC>atA		casein beta							82	78	79					4																	70823037		2203	4300	6503	SO:0001819	synonymous_variant	1447				calcium ion transport	extracellular region	calcium ion binding|enzyme inhibitor activity|transporter activity	g.chr4:70823037G>T	X17070	CCDS3532.1	4q21.1	2008-02-05			ENSG00000135222	ENSG00000135222			2447	protein-coding gene	gene with protein product		115460		CASB		1577486	Standard	NM_001891		Approved		uc003hes.4	P05814	OTTHUMG00000129409	ENST00000353151.3:c.630C>A	4.37:g.70823037G>T							p.I210I	NM_001891.2	NP_001882.1	P05814	CASB_HUMAN			5	641	-			210					O88950|Q15647|Q6FGP4|Q9BY54|Q9R249|Q9UNI2|Q9UNQ5	Silent	SNP	ENST00000353151.3	37	c.630C>A	CCDS3532.1																																																																																				0.493	CSN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251565.1			11	19	1	0	1.08611e-07	1	1.19609e-07	11	19					T	70823037	G	T	70823037	2	4	432	1	0	0	0	0	0	0	0	1	3948	932	33	5		5	CSN2	4	70823037	Silent	SNP	G	TCGA-XJ-A9DX-01A-11D-A377-08		70823037	120331239	19	20772											
GK2	2712	broad.mit.edu	37	chr4	80329310	80329310	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gagttggtgccctggaccacCgctcccaccaacggccccac	7	5	10	19	2	0	0	0	0	0	0	1	2	1	1	7	3	2	2	7	3	1	1	rs574281533		TCGA-XJ-A9DX-01A-11D-A377-08	TCGA-XJ-A9DX-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	955a0861-eff0-463b-908c-a108ddb4b971	c23cbbc8-b66c-4e06-8c99-00590b5ece18	g.chr4:80329310C>T	ENST00000358842.3	-	1	62	c.45G>A	c.(43-45)gcG>gcA	p.A15A		NM_033214.2	NP_149991.2	Q01415	GALK2_HUMAN	glycerol kinase 2	0					carbohydrate metabolic process (GO:0005975)|galactose metabolic process (GO:0006012)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|galactokinase activity (GO:0004335)|N-acetylgalactosamine kinase activity (GO:0033858)			autonomic_ganglia(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	39						CCTGGACCACCGCTCCCACCA	0.552																																						ENST00000358842.3																			0				autonomic_ganglia(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	39						c.(43-45)gcG>gcA		glycerol kinase 2							46	45	46					4																	80329310		2203	4300	6503	SO:0001819	synonymous_variant	2712				glycerol-3-phosphate metabolic process	mitochondrial outer membrane	ATP binding|glycerol kinase activity	g.chr4:80329310C>T	BC029820	CCDS3585.1	4q13	2008-02-05	2002-10-03	2002-10-04	ENSG00000196475	ENSG00000196475		"Glycerol kinases"	4291	protein-coding gene	gene with protein product		600148	"glycerol kinase pseudogene 2"	GKP2		7987308	Standard	NM_033214		Approved	GKTA	uc003hlu.3	Q14410	OTTHUMG00000130199	ENST00000358842.3:c.45G>A	4.37:g.80329310C>T							p.A15A	NM_033214.2	NP_149991.2	Q14410	GLPK2_HUMAN			1	62	-			15					Q7Z4Q4	Silent	SNP	ENST00000358842.3	37	c.45G>A	CCDS3585.1																																																																																				0.552	GK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252517.2	NM_033214		4	57	0	0	0	1	0	4	57					T	80329310	C	T	80329310	2	4	432	1	0	0	0	0	0	0	0	1	6421	639	23	2		2	GK2	4	80329310	Silent	SNP	C	TCGA-XJ-A9DX-01A-11D-A377-08	9506273	80329310	110824966	20	20773											
MMRN1	22915	broad.mit.edu	37	chr4	90857770	90857770	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaaaactcaagctgccctatCtaatttaacttgttgtatag	14	14	5	8	0	2	0	1	0	1	0	2	0	2	0	1	0	4	3	1	0	8	8			TCGA-XJ-A9DX-01A-11D-A377-08	TCGA-XJ-A9DX-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	955a0861-eff0-463b-908c-a108ddb4b971	c23cbbc8-b66c-4e06-8c99-00590b5ece18	g.chr4:90857770C>T	ENST00000394980.1	+	7	3258	c.2939C>T	c.(2938-2940)tCt>tTt	p.S980F	MMRN1_ENST00000508372.1_Missense_Mutation_p.S722F|MMRN1_ENST00000394981.1_Intron|MMRN1_ENST00000264790.2_Missense_Mutation_p.S980F			Q13201	MMRN1_HUMAN	multimerin 1	980					blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|platelet alpha granule lumen (GO:0031093)				breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|liver(2)|lung(34)|ovary(5)|prostate(1)|skin(6)|stomach(1)|urinary_tract(2)	72		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)		GCTGCCCTATCTAATTTAACT	0.358																																						ENST00000394980.1																			0				breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|liver(2)|lung(34)|ovary(5)|prostate(1)|skin(6)|stomach(1)|urinary_tract(2)	72						c.(2938-2940)tCt>tTt		multimerin 1							52	56	55					4																	90857770		2203	4298	6501	SO:0001583	missense	22915				cell adhesion|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen		g.chr4:90857770C>T	U27109	CCDS3635.1	4q22	2008-02-05	2004-03-02	2004-03-02	ENSG00000138722	ENSG00000138722		"EMI domain containing"	7178	protein-coding gene	gene with protein product	"glycoprotein Ia*"	601456	"multimerin"	MMRN		7629143, 10828608	Standard	NM_007351		Approved	ECM, EMILIN4, GPIa*	uc003hst.3	Q13201	OTTHUMG00000130947	ENST00000394980.1:c.2939C>T	4.37:g.90857770C>T	ENSP00000378431:p.Ser980Phe					MMRN1_ENST00000394981.1_Intron|MMRN1_ENST00000508372.1_Missense_Mutation_p.S722F|MMRN1_ENST00000264790.2_Missense_Mutation_p.S980F	p.S980F			Q13201	MMRN1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)	7	3258	+		Hepatocellular(203;0.114)	980					Q4W5L1|Q6P3T8|Q6ZUL9	Missense_Mutation	SNP	ENST00000394980.1	37	c.2939C>T	CCDS3635.1	.	.	.	.	.	.	.	.	.	.	C	14.07	2.425627	0.43020	.	.	ENSG00000138722	ENST00000394980;ENST00000264790;ENST00000508372	T;T;T	0.68903	-0.05;-0.05;-0.36	5.1	4.25	0.50352	.	0.177621	0.38778	N	0.001578	T	0.74298	0.3698	L	0.59436	1.845	0.80722	D	1	D	0.59767	0.986	P	0.56823	0.807	T	0.78102	-0.2335	10	0.87932	D	0	.	14.21	0.65759	0.0:0.9266:0.0:0.0734	.	980	Q13201	MMRN1_HUMAN	F	980;980;722	ENSP00000378431:S980F;ENSP00000264790:S980F;ENSP00000426461:S722F	ENSP00000264790:S980F	S	+	2	0	MMRN1	91076793	0.953000	0.32496	0.582000	0.28627	0.606000	0.37113	2.561000	0.45905	1.457000	0.47850	0.655000	0.94253	TCT		0.358	MMRN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253546.2	NM_007351		12	47	0	0	0	1	0	12	47					T	90857770	C	T	90857770	3	4	432	1	0	0	0	0	1	0	0	0	9670	913	32	3	2961	3	MMRN1	4	90857770	Missense_Mutation	SNP	C	TCGA-XJ-A9DX-01A-11D-A377-08	10528460	90857770	100296506	21	20774											
MARCH1	55016	broad.mit.edu	37	chr4	164506901	164506901	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aattcctatggatactgtacCttccggaggggtttgagctt	8	14	11	8	1	0	1	0	1	0	0	2	3	2	3	3	4	3	3	3	4	4	7			TCGA-XJ-A9DX-01A-11D-A377-08	TCGA-XJ-A9DX-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	955a0861-eff0-463b-908c-a108ddb4b971	c23cbbc8-b66c-4e06-8c99-00590b5ece18	g.chr4:164506901C>A	ENST00000503008.1	-	6	1399	c.423G>T	c.(421-423)aaG>aaT	p.K141N	MARCH1_ENST00000274056.7_Splice_Site_p.K141N|MARCH1_ENST00000339875.5_Splice_Site_p.K124N|MARCH1_ENST00000514618.1_Splice_Site_p.K397N	NM_001166373.1	NP_001159845.1	Q8TCQ1	MARH1_HUMAN	membrane-associated ring finger (C3HC4) 1, E3 ubiquitin protein ligase	141					antigen processing and presentation of peptide antigen via MHC class II (GO:0002495)|immune response (GO:0006955)|protein polyubiquitination (GO:0000209)	cytoplasmic vesicle (GO:0031410)|early endosome membrane (GO:0031901)|endoplasmic reticulum membrane (GO:0005789)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)	ligase activity (GO:0016874)|MHC protein binding (GO:0042287)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(3)|large_intestine(3)|lung(20)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	36	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				GATACTGTACCTTCCGGAGGG	0.448																																						ENST00000503008.1																			0				endometrium(2)|kidney(3)|large_intestine(3)|lung(20)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	36						c.e6+1		membrane-associated ring finger (C3HC4) 1, E3 ubiquitin protein ligase							110	102	105					4																	164506901		2203	4300	6503	SO:0001630	splice_region_variant	55016				antigen processing and presentation of peptide antigen via MHC class II|immune response	cytoplasmic vesicle membrane|early endosome membrane|Golgi apparatus|integral to membrane|late endosome membrane|lysosomal membrane|plasma membrane	MHC protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr4:164506901C>A	AK000675	CCDS3806.1, CCDS54814.1	4q32.2	2013-01-09	2012-02-23			ENSG00000145416		"MARCH membrane-associated ring fingers", "RING-type (C3HC4) zinc fingers"	26077	protein-coding gene	gene with protein product		613331	"membrane-associated ring finger (C3HC4) 1"			14722266	Standard	NM_017923		Approved	FLJ20668, MARCH-I, RNF171	uc003iqs.2	Q8TCQ1		ENST00000503008.1:c.423+1G>T	4.37:g.164506901C>A						MARCH1_ENST00000274056.7_Splice_Site_p.K141_splice|MARCH1_ENST00000514618.1_Splice_Site_p.K397_splice|MARCH1_ENST00000339875.5_Splice_Site_p.K124_splice	p.K141_splice	NM_001166373.1	NP_001159845.1	Q8TCQ1	MARH1_HUMAN			6	1399	-	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)	141					D3DP29|Q9NWR0	Splice_Site	SNP	ENST00000503008.1	37	c.423_splice	CCDS54814.1	.	.	.	.	.	.	.	.	.	.	C	19.44	3.827922	0.71143	.	.	ENSG00000145416	ENST00000274056;ENST00000503008;ENST00000514618;ENST00000339875;ENST00000507270	T;T;T;T;T	0.34859	1.81;1.81;1.34;1.4;1.63	5.57	4.74	0.60224	.	0.000000	0.64402	D	0.000001	T	0.41558	0.1164	M	0.79123	2.44	0.58432	D	0.999999	P;P	0.40602	0.723;0.511	B;B	0.38458	0.274;0.251	T	0.42464	-0.9450	10	0.41790	T	0.15	.	14.392	0.66986	0.0:0.929:0.0:0.071	.	141;124	Q8TCQ1;Q8TCQ1-2	MARH1_HUMAN;.	N	141;141;397;124;141	ENSP00000274056:K141N;ENSP00000427223:K141N;ENSP00000421322:K397N;ENSP00000345676:K124N;ENSP00000426731:K141N	ENSP00000274056:K141N	K	-	3	2	MARCH1	164726351	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	7.818000	0.86416	1.367000	0.46095	0.585000	0.79938	AAG		0.448	MARCH1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364493.2	NM_017923	Missense_Mutation	26	101	1	0	1.75199e-13	1	2.1468e-13	26	101					A	164506901	C	A	164506901	5	1	432	1	0	0	0	0	0	0	1	0	9298	695	24	5	458	5	MARCH1	4	164506901	Splice_Site	SNP	C	TCGA-XJ-A9DX-01A-11D-A377-08	73649131	164506901	26647375	22	20775											
AHRR	57491	broad.mit.edu	37	chr5	432967	432967	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttggtgctcagggaacagacTgacgctggccgatgggcaca	9	7	15	10	2	1	2	1	1	0	1	1	4	1	3	1	4	2	3	1	4	1	1			TCGA-XJ-A9DX-01A-11D-A377-08	TCGA-XJ-A9DX-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	955a0861-eff0-463b-908c-a108ddb4b971	c23cbbc8-b66c-4e06-8c99-00590b5ece18	g.chr5:432967T>C	ENST00000505113.1	+	10	1073	c.1029T>C	c.(1027-1029)acT>acC	p.T343T	AHRR_ENST00000512529.1_Silent_p.T189T|AHRR_ENST00000506456.1_Silent_p.T199T|AHRR_ENST00000316418.5_Silent_p.T361T	NM_001242412.1	NP_001229341.1	A9YTQ3	AHRR_HUMAN	aryl-hydrocarbon receptor repressor	343					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of protein sumoylation (GO:0033235)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|signal transducer activity (GO:0004871)			breast(2)|endometrium(4)|large_intestine(1)|lung(12)|prostate(1)	20			Epithelial(17;0.0011)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00354)|Lung(60;0.0863)			GGGAACAGACTGACGCTGGCC	0.657																																						ENST00000316418.5																			0				breast(2)|endometrium(4)|large_intestine(1)|lung(12)|prostate(1)	20						c.(1081-1083)acT>acC		aryl-hydrocarbon receptor repressor							37	43	41					5																	432967		2009	4165	6174	SO:0001819	synonymous_variant	57491				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity	g.chr5:432967T>C	AB033060	CCDS43297.1, CCDS56355.1	5p15.33	2013-05-21	2003-09-11	2003-09-12	ENSG00000063438	ENSG00000063438		"Basic helix-loop-helix proteins"	346	protein-coding gene	gene with protein product		606517	"aryl hydrocarbon receptor regulator"	AHH, AHHR		1070014, 11423533	Standard	NM_020731		Approved	KIAA1234, bHLHe77	uc003jaw.3	A9YTQ3	OTTHUMG00000162171	ENST00000505113.1:c.1029T>C	5.37:g.432967T>C						AHRR_ENST00000506456.1_Silent_p.T199T|AHRR_ENST00000512529.1_Silent_p.T189T|AHRR_ENST00000505113.1_Silent_p.T343T	p.T361T	NM_020731.4	NP_065782.2	A9YTQ3	AHRR_HUMAN	Epithelial(17;0.0011)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00354)|Lung(60;0.0863)		11	1127	+			343					A7MBN5|D6RAZ1|Q9HAZ3|Q9ULI6	Silent	SNP	ENST00000505113.1	37	c.1083T>C	CCDS56355.1																																																																																				0.657	AHRR-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000367720.1	NM_020731		27	29	0	0	0	1	0	27	29					C	432967	T	C	432967	2	2	432	1	0	0	0	0	0	0	0	1	417	1567	55	4		4	AHRR	5	432967	Silent	SNP	T	TCGA-XJ-A9DX-01A-11D-A377-08		432967	180482293	23	20776											
ADCY2	108	broad.mit.edu	37	chr5	7826908	7826908	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	aggaataatcaacgtgaaagGaaagggggacctgaagacgt	17	5	14	5	2	1	3	1	2	0	1	1	6	1	6	1	4	1	0	1	4	6	1			TCGA-XJ-A9DX-01A-11D-A377-08	TCGA-XJ-A9DX-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	955a0861-eff0-463b-908c-a108ddb4b971	c23cbbc8-b66c-4e06-8c99-00590b5ece18	g.chr5:7826908G>A	ENST00000338316.4	+	25	3289	c.3200G>A	c.(3199-3201)gGa>gAa	p.G1067E	ADCY2_ENST00000537121.1_Missense_Mutation_p.G887E	NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)	1067					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cAMP biosynthetic process (GO:0006171)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	adenylate cyclase activity (GO:0004016)|adenylate cyclase binding (GO:0008179)|ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						AACGTGAAAGGAAAGGGGGAC	0.512																																						ENST00000338316.4																			0				NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						c.(3199-3201)gGa>gAa		adenylate cyclase 2 (brain)							116	100	105					5																	7826908		2203	4300	6503	SO:0001583	missense	108				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|dendrite|integral to membrane|plasma membrane	ATP binding|metal ion binding	g.chr5:7826908G>A	AB028983	CCDS3872.2	5p15.3	2013-02-04			ENSG00000078295	ENSG00000078295	4.6.1.1	"Adenylate cyclases"	233	protein-coding gene	gene with protein product		103071				1427768	Standard	NM_020546		Approved	HBAC2, KIAA1060, AC2	uc003jdz.1	Q08462	OTTHUMG00000090476	ENST00000338316.4:c.3200G>A	5.37:g.7826908G>A	ENSP00000342952:p.Gly1067Glu					ADCY2_ENST00000537121.1_Missense_Mutation_p.G887E	p.G1067E	NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN			25	3289	+			1067					B7Z2C1|Q2NKL8|Q9UDB2|Q9UPU2	Missense_Mutation	SNP	ENST00000338316.4	37	c.3200G>A	CCDS3872.2	.	.	.	.	.	.	.	.	.	.	G	28.3	4.904897	0.92035	.	.	ENSG00000078295	ENST00000338316;ENST00000382532;ENST00000541993;ENST00000537121	T;T	0.52295	0.67;0.67	5.43	5.43	0.79202	Adenylyl cyclase class-3/4/guanylyl cyclase (3);	0.055426	0.64402	D	0.000001	T	0.82162	0.4977	H	0.98351	4.21	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.89304	0.3628	10	0.87932	D	0	.	19.2668	0.93990	0.0:0.0:1.0:0.0	.	887;1067	B7Z2C1;Q08462	.;ADCY2_HUMAN	E	1067;179;900;887	ENSP00000342952:G1067E;ENSP00000444803:G887E	ENSP00000342952:G1067E	G	+	2	0	ADCY2	7879908	1.000000	0.71417	0.770000	0.31555	0.880000	0.50808	7.702000	0.84576	2.547000	0.85894	0.591000	0.81541	GGA		0.512	ADCY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206930.2	NM_020546		11	42	0	0	0	1	0	11	42					A	7826908	G	A	7826908	3	1	432	1	0	0	0	0	1	0	0	0	294	1174	41	3	3298	3	ADCY2	5	7826908	Missense_Mutation	SNP	G	TCGA-XJ-A9DX-01A-11D-A377-08	7393941	7826908	173088352	24	20777											
IL6ST	3572	broad.mit.edu	37	chr5	55238515	55238515	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tacccttggaggagtgtgagGtgaccactgggcaatatgac	10	9	14	8	0	0	3	0	3	0	0	0	5	0	5	2	4	1	1	2	4	3	3			TCGA-XJ-A9DX-01A-11D-A377-08	TCGA-XJ-A9DX-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	955a0861-eff0-463b-908c-a108ddb4b971	c23cbbc8-b66c-4e06-8c99-00590b5ece18	g.chr5:55238515G>A	ENST00000381298.2	-	16	2314	c.2002C>T	c.(2002-2004)Cct>Tct	p.P668S	CTD-2031P19.5_ENST00000576302.1_RNA|IL6ST_ENST00000336909.5_Missense_Mutation_p.P668S|IL6ST_ENST00000381294.3_Missense_Mutation_p.P607S|IL6ST_ENST00000536319.1_3'UTR|IL6ST_ENST00000381286.3_Silent_p.H43H|IL6ST_ENST00000502326.3_Missense_Mutation_p.P668S|IL6ST_ENST00000381287.4_3'UTR|IL6ST_ENST00000381293.2_Silent_p.H180H	NM_001190981.1|NM_002184.3|NM_175767.2	NP_001177910.1|NP_002175.2|NP_786943.1	P40189	IL6RB_HUMAN	interleukin 6 signal transducer	668					ciliary neurotrophic factor-mediated signaling pathway (GO:0070120)|cytokine-mediated signaling pathway (GO:0019221)|glycogen metabolic process (GO:0005977)|interleukin-27-mediated signaling pathway (GO:0070106)|interleukin-6-mediated signaling pathway (GO:0070102)|leukemia inhibitory factor signaling pathway (GO:0048861)|negative regulation of apoptotic process (GO:0043066)|negative regulation of interleukin-6-mediated signaling pathway (GO:0070104)|oncostatin-M-mediated signaling pathway (GO:0038165)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of adaptive immune response (GO:0002821)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|positive regulation of cell proliferation (GO:0008284)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of Notch signaling pathway (GO:0008593)|response to cytokine (GO:0034097)|viral process (GO:0016032)	ciliary neurotrophic factor receptor complex (GO:0070110)|dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|interleukin-6 receptor complex (GO:0005896)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|oncostatin-M receptor complex (GO:0005900)|plasma membrane (GO:0005886)	ciliary neurotrophic factor receptor activity (GO:0004897)|ciliary neurotrophic factor receptor binding (GO:0005127)|growth factor binding (GO:0019838)|interleukin-11 receptor activity (GO:0004921)|interleukin-27 receptor activity (GO:0045509)|protein homodimerization activity (GO:0042803)			breast(2)|endometrium(5)|kidney(5)|large_intestine(4)|liver(2)|lung(1)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	26		Lung NSC(810;8.69e-05)|Prostate(74;0.00308)|Breast(144;0.0544)|Ovarian(174;0.223)				GGAGTGTGAGGTGACCACTGG	0.363			O		hepatocellular ca																																	ENST00000381298.2				Dom	yes		5	5q11	3572	O	"interleukin 6 signal transducer (gp130, oncostatin M receptor)"			E			hepatocellular ca		0				breast(2)|endometrium(5)|kidney(5)|large_intestine(4)|liver(2)|lung(1)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	26						c.(2002-2004)Cct>Tct		interleukin 6 signal transducer (gp130, oncostatin M receptor)							96	94	95					5																	55238515		2203	4300	6503	SO:0001583	missense	3572				interleukin-6-mediated signaling pathway|leukemia inhibitory factor signaling pathway|negative regulation of interleukin-6-mediated signaling pathway|positive regulation of anti-apoptosis|positive regulation of cardiac muscle hypertrophy|positive regulation of osteoblast differentiation|positive regulation of T cell proliferation|positive regulation of tyrosine phosphorylation of Stat1 protein|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation vascular endothelial growth factor production	ciliary neurotrophic factor receptor complex|extracellular region|extracellular space|interleukin-6 receptor complex|oncostatin-M receptor complex	ciliary neurotrophic factor receptor activity|ciliary neurotrophic factor receptor binding|growth factor binding|protein homodimerization activity	g.chr5:55238515G>A	M57230	CCDS3971.1, CCDS47209.1, CCDS54856.1	5q11.2	2014-04-04	2014-04-04		ENSG00000134352	ENSG00000134352		"Interleukins and interleukin receptors", "CD molecules", "Fibronectin type III domain containing"	6021	protein-coding gene	gene with protein product	"gp130, oncostatin M receptor"	600694	"interleukin 6 signal transducer (gp130, oncostatin M receptor)"			2261637	Standard	NM_002184		Approved	GP130, CD130	uc003jqq.3	P40189	OTTHUMG00000097043	ENST00000381298.2:c.2002C>T	5.37:g.55238515G>A	ENSP00000370698:p.Pro668Ser					IL6ST_ENST00000336909.5_Missense_Mutation_p.P668S|IL6ST_ENST00000381293.2_Silent_p.H180H|IL6ST_ENST00000381287.4_3'UTR|IL6ST_ENST00000381286.3_Silent_p.H43H|IL6ST_ENST00000502326.3_Missense_Mutation_p.P668S|IL6ST_ENST00000381294.3_Missense_Mutation_p.P607S|IL6ST_ENST00000536319.1_3'UTR	p.P668S	NM_001190981.1|NM_002184.3|NM_175767.2	NP_001177910.1|NP_002175.2|NP_786943.1	P40189	IL6RB_HUMAN			16	2314	-		Lung NSC(810;8.69e-05)|Prostate(74;0.00308)|Breast(144;0.0544)|Ovarian(174;0.223)	668					A0N0L4|Q5FC04|Q9UQ41	Missense_Mutation	SNP	ENST00000381298.2	37	c.2002C>T	CCDS3971.1	.	.	.	.	.	.	.	.	.	.	G	25.7	4.662867	0.88251	.	.	ENSG00000134352	ENST00000381298;ENST00000336909;ENST00000381294	T;T;T	0.46063	1.24;1.24;0.88	5.52	5.52	0.82312	.	0.099207	0.64402	N	0.000001	T	0.65729	0.2719	M	0.67397	2.05	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.67027	-0.5774	10	0.87932	D	0	.	19.7971	0.96490	0.0:0.0:1.0:0.0	.	668;607;668	Q17RA0;Q5FC04;P40189	.;.;IL6RB_HUMAN	S	668;668;607	ENSP00000370698:P668S;ENSP00000338799:P668S;ENSP00000370694:P607S	ENSP00000338799:P668S	P	-	1	0	IL6ST	55274272	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.173000	0.89680	2.757000	0.94681	0.585000	0.79938	CCT		0.363	IL6ST-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000214146.3	NM_002184		14	67	0	0	0	1	0	14	67					A	55238515	G	A	55238515	3	1	432	1	0	0	0	0	1	0	0	0	7703	1261	44	3	762	3	IL6ST	5	55238515	Missense_Mutation	SNP	G	TCGA-XJ-A9DX-01A-11D-A377-08	47411607	55238515	125676745	25	20778											
IL6ST	3572	broad.mit.edu	37	chr5	55251876	55251876	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaaagtcacaggcagggataGttaaaacagctgcatctgat	15	8	11	7	0	2	1	1	1	1	0	2	3	2	2	0	2	3	4	0	2	4	2			TCGA-XJ-A9DX-01A-11D-A377-08	TCGA-XJ-A9DX-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	955a0861-eff0-463b-908c-a108ddb4b971	c23cbbc8-b66c-4e06-8c99-00590b5ece18	g.chr5:55251876G>A	ENST00000381298.2	-	10	1556	c.1244C>T	c.(1243-1245)aCt>aTt	p.T415I	IL6ST_ENST00000336909.5_Missense_Mutation_p.T415I|IL6ST_ENST00000381294.3_Missense_Mutation_p.T415I|IL6ST_ENST00000536319.1_3'UTR|IL6ST_ENST00000381286.3_Intron|IL6ST_ENST00000502326.3_Missense_Mutation_p.T415I|IL6ST_ENST00000381287.4_3'UTR|IL6ST_ENST00000381293.2_Intron|IL6ST_ENST00000522633.2_3'UTR	NM_001190981.1|NM_002184.3|NM_175767.2	NP_001177910.1|NP_002175.2|NP_786943.1	P40189	IL6RB_HUMAN	interleukin 6 signal transducer	415	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.		T -> I (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		ciliary neurotrophic factor-mediated signaling pathway (GO:0070120)|cytokine-mediated signaling pathway (GO:0019221)|glycogen metabolic process (GO:0005977)|interleukin-27-mediated signaling pathway (GO:0070106)|interleukin-6-mediated signaling pathway (GO:0070102)|leukemia inhibitory factor signaling pathway (GO:0048861)|negative regulation of apoptotic process (GO:0043066)|negative regulation of interleukin-6-mediated signaling pathway (GO:0070104)|oncostatin-M-mediated signaling pathway (GO:0038165)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of adaptive immune response (GO:0002821)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|positive regulation of cell proliferation (GO:0008284)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of Notch signaling pathway (GO:0008593)|response to cytokine (GO:0034097)|viral process (GO:0016032)	ciliary neurotrophic factor receptor complex (GO:0070110)|dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|interleukin-6 receptor complex (GO:0005896)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|oncostatin-M receptor complex (GO:0005900)|plasma membrane (GO:0005886)	ciliary neurotrophic factor receptor activity (GO:0004897)|ciliary neurotrophic factor receptor binding (GO:0005127)|growth factor binding (GO:0019838)|interleukin-11 receptor activity (GO:0004921)|interleukin-27 receptor activity (GO:0045509)|protein homodimerization activity (GO:0042803)	p.T415I(1)		breast(2)|endometrium(5)|kidney(5)|large_intestine(4)|liver(2)|lung(1)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	26		Lung NSC(810;8.69e-05)|Prostate(74;0.00308)|Breast(144;0.0544)|Ovarian(174;0.223)				GGCAGGGATAGTTAAAACAGC	0.418			O		hepatocellular ca																																	ENST00000381298.2				Dom	yes		5	5q11	3572	O	"interleukin 6 signal transducer (gp130, oncostatin M receptor)"			E			hepatocellular ca		1	Substitution - Missense(1)	p.T415I(1)	large_intestine(1)	breast(2)|endometrium(5)|kidney(5)|large_intestine(4)|liver(2)|lung(1)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	26						c.(1243-1245)aCt>aTt		interleukin 6 signal transducer (gp130, oncostatin M receptor)							122	114	117					5																	55251876		2203	4300	6503	SO:0001583	missense	3572				interleukin-6-mediated signaling pathway|leukemia inhibitory factor signaling pathway|negative regulation of interleukin-6-mediated signaling pathway|positive regulation of anti-apoptosis|positive regulation of cardiac muscle hypertrophy|positive regulation of osteoblast differentiation|positive regulation of T cell proliferation|positive regulation of tyrosine phosphorylation of Stat1 protein|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation vascular endothelial growth factor production	ciliary neurotrophic factor receptor complex|extracellular region|extracellular space|interleukin-6 receptor complex|oncostatin-M receptor complex	ciliary neurotrophic factor receptor activity|ciliary neurotrophic factor receptor binding|growth factor binding|protein homodimerization activity	g.chr5:55251876G>A	M57230	CCDS3971.1, CCDS47209.1, CCDS54856.1	5q11.2	2014-04-04	2014-04-04		ENSG00000134352	ENSG00000134352		"Interleukins and interleukin receptors", "CD molecules", "Fibronectin type III domain containing"	6021	protein-coding gene	gene with protein product	"gp130, oncostatin M receptor"	600694	"interleukin 6 signal transducer (gp130, oncostatin M receptor)"			2261637	Standard	NM_002184		Approved	GP130, CD130	uc003jqq.3	P40189	OTTHUMG00000097043	ENST00000381298.2:c.1244C>T	5.37:g.55251876G>A	ENSP00000370698:p.Thr415Ile					IL6ST_ENST00000336909.5_Missense_Mutation_p.T415I|IL6ST_ENST00000381293.2_Intron|IL6ST_ENST00000381287.4_3'UTR|IL6ST_ENST00000381286.3_Intron|IL6ST_ENST00000502326.3_Missense_Mutation_p.T415I|IL6ST_ENST00000381294.3_Missense_Mutation_p.T415I|IL6ST_ENST00000522633.2_3'UTR|IL6ST_ENST00000536319.1_3'UTR	p.T415I	NM_001190981.1|NM_002184.3|NM_175767.2	NP_001177910.1|NP_002175.2|NP_786943.1	P40189	IL6RB_HUMAN			10	1556	-		Lung NSC(810;8.69e-05)|Prostate(74;0.00308)|Breast(144;0.0544)|Ovarian(174;0.223)	415		T -> I (in a colorectal cancer sample; somatic mutation).	Fibronectin type-III 3.		A0N0L4|Q5FC04|Q9UQ41	Missense_Mutation	SNP	ENST00000381298.2	37	c.1244C>T	CCDS3971.1	.	.	.	.	.	.	.	.	.	.	G	9.399	1.077626	0.20227	.	.	ENSG00000134352	ENST00000381298;ENST00000336909;ENST00000381294	T;T;T	0.39229	1.28;1.28;1.09	5.86	4.04	0.47022	Long hematopoietin receptor, Gp130 family 2, conserved site (1);Fibronectin, type III (2);	0.768317	0.13249	N	0.402270	T	0.27278	0.0669	L	0.39898	1.24	0.80722	D	1	B;B;B	0.31290	0.318;0.047;0.215	B;B;B	0.18263	0.018;0.021;0.018	T	0.05022	-1.0911	10	0.22109	T	0.4	.	5.3476	0.16018	0.2037:0.165:0.6313:0.0	.	415;415;415	Q17RA0;Q5FC04;P40189	.;.;IL6RB_HUMAN	I	415	ENSP00000370698:T415I;ENSP00000338799:T415I;ENSP00000370694:T415I	ENSP00000338799:T415I	T	-	2	0	IL6ST	55287633	1.000000	0.71417	0.987000	0.45799	0.235000	0.25334	1.984000	0.40658	0.884000	0.36064	0.650000	0.86243	ACT		0.418	IL6ST-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000214146.3	NM_002184		22	95	0	0	0	1	0	22	95					A	55251876	G	A	55251876	3	1	432	1	0	0	0	0	1	0	0	0	7703	1029	36	3	1544	3	IL6ST	5	55251876	Missense_Mutation	SNP	G	TCGA-XJ-A9DX-01A-11D-A377-08	13361	55251876	125663384	26	20779											
LNPEP	4012	broad.mit.edu	37	chr5	96362364	96362364	+	Nonsense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagataacttccgaacacagAagctgtcttttatcattaga	14	12	7	8	1	2	3	1	0	1	3	3	5	3	3	1	0	3	1	1	0	5	5			TCGA-XJ-A9DX-01A-11D-A377-08	TCGA-XJ-A9DX-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	955a0861-eff0-463b-908c-a108ddb4b971	c23cbbc8-b66c-4e06-8c99-00590b5ece18	g.chr5:96362364A>T	ENST00000231368.5	+	16	3459	c.2767A>T	c.(2767-2769)Aag>Tag	p.K923*	LNPEP_ENST00000395770.3_Nonsense_Mutation_p.K909*	NM_005575.2	NP_005566.2	Q9UIQ6	LCAP_HUMAN	leucyl/cystinyl aminopeptidase	923					antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cell-cell signaling (GO:0007267)|female pregnancy (GO:0007565)|membrane organization (GO:0061024)|protein catabolic process (GO:0030163)|protein polyubiquitination (GO:0000209)|proteolysis (GO:0006508)	cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|early endosome lumen (GO:0031905)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	34		all_cancers(142;7e-07)|all_epithelial(76;9.52e-10)|all_lung(232;0.00101)|Lung NSC(167;0.00137)|Ovarian(225;0.024)|Colorectal(57;0.0269)|Breast(839;0.244)		COAD - Colon adenocarcinoma(37;0.072)		CCGAACACAGAAGCTGTCTTT	0.383																																						ENST00000231368.5																			0				breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	34						c.(2767-2769)Aag>Tag		leucyl/cystinyl aminopeptidase							111	106	108					5																	96362364		2203	4300	6503	SO:0001587	stop_gained	4012				cell-cell signaling|female pregnancy|proteolysis	extracellular region|integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding	g.chr5:96362364A>T	D50810	CCDS4087.1, CCDS43346.1	5q15	2011-07-25			ENSG00000113441	ENSG00000113441	3.4.11.3		6656	protein-coding gene	gene with protein product	"cystinyl aminopeptidase", "placental leucine aminopeptidase"	151300				8550619	Standard	NM_175920		Approved	CAP, PLAP, P-LAP	uc003kmw.1	Q9UIQ6	OTTHUMG00000128719	ENST00000231368.5:c.2767A>T	5.37:g.96362364A>T	ENSP00000231368:p.Lys923*					LNPEP_ENST00000395770.3_Nonsense_Mutation_p.K909*	p.K923*	NM_005575.2	NP_005566.2	Q9UIQ6	LCAP_HUMAN		COAD - Colon adenocarcinoma(37;0.072)	16	3459	+		all_cancers(142;7e-07)|all_epithelial(76;9.52e-10)|all_lung(232;0.00101)|Lung NSC(167;0.00137)|Ovarian(225;0.024)|Colorectal(57;0.0269)|Breast(839;0.244)	923					O00769|Q15145|Q59H76|Q9TNQ2|Q9TNQ3|Q9UIQ7	Nonsense_Mutation	SNP	ENST00000231368.5	37	c.2767A>T	CCDS4087.1	.	.	.	.	.	.	.	.	.	.	A	43	10.025729	0.99320	.	.	ENSG00000113441	ENST00000231368;ENST00000395770	.	.	.	6.17	6.17	0.99709	.	0.044047	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.30078	T	0.28	.	6.957	0.24576	0.8214:0.0:0.1786:0.0	.	.	.	.	X	923;909	.	ENSP00000231368:K923X	K	+	1	0	LNPEP	96388120	1.000000	0.71417	0.979000	0.43373	0.902000	0.53008	6.577000	0.74027	2.371000	0.80710	0.533000	0.62120	AAG		0.383	LNPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250624.1	NM_005575		21	39	0	0	0	1	0	21	39					T	96362364	A	T	96362364	4	4	432	1	0	0	0	0	0	1	0	0	8864	247	9	5	2829	5	LNPEP	5	96362364	Nonsense_Mutation	SNP	A	TCGA-XJ-A9DX-01A-11D-A377-08	41110488	96362364	84552896	27	20780											
SHROOM1	134549	broad.mit.edu	37	chr5	132160411	132160411	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaagggaggggagccaggcAggcacaatgcaggtctctga	11	4	18	8	0	1	1	0	1	1	0	2	4	1	4	1	7	2	3	1	7	2	0			TCGA-XJ-A9DX-01A-11D-A377-08	TCGA-XJ-A9DX-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	955a0861-eff0-463b-908c-a108ddb4b971	c23cbbc8-b66c-4e06-8c99-00590b5ece18	g.chr5:132160411A>G	ENST00000378679.3	-	6	1941	c.1137T>C	c.(1135-1137)ccT>ccC	p.P379P	SHROOM1_ENST00000378676.1_Intron|SHROOM1_ENST00000488072.1_5'Flank|SHROOM1_ENST00000319854.3_Silent_p.P379P	NM_001172700.1	NP_001166171.1	Q2M3G4	SHRM1_HUMAN	shroom family member 1	379					actin filament bundle assembly (GO:0051017)|cell morphogenesis (GO:0000902)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|myosin II complex (GO:0016460)	actin filament binding (GO:0051015)			endometrium(1)|kidney(4)|large_intestine(2)|lung(4)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	17			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GGAGCCAGGCAGGCACAATGC	0.592																																						ENST00000378679.3																			0				endometrium(1)|kidney(4)|large_intestine(2)|lung(4)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	17						c.(1135-1137)ccT>ccC		shroom family member 1							77	84	82					5																	132160411		2203	4300	6503	SO:0001819	synonymous_variant	134549				actin filament bundle assembly|cell morphogenesis	cytoplasm|microtubule	actin filament binding	g.chr5:132160411A>G	AF314142	CCDS4161.1, CCDS54902.1	5q31.1	2007-05-03			ENSG00000164403	ENSG00000164403			24084	protein-coding gene	gene with protein product		611179				11853319, 16615870	Standard	NM_133456		Approved	APXL2, KIAA1960	uc003kxy.2	Q2M3G4	OTTHUMG00000059835	ENST00000378679.3:c.1137T>C	5.37:g.132160411A>G						SHROOM1_ENST00000319854.3_Silent_p.P379P|SHROOM1_ENST00000378676.1_Intron	p.P379P	NM_001172700.1	NP_001166171.1	Q2M3G4	SHRM1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		6	1941	-			379					B7WP40|B7ZL01|Q8TDP0|Q8TF41	Silent	SNP	ENST00000378679.3	37	c.1137T>C	CCDS54902.1																																																																																				0.592	SHROOM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000133033.1	NM_133456		21	37	0	0	0	1	0	21	37					G	132160411	A	G	132160411	2	3	432	1	0	0	0	0	0	0	0	1	14293	175	7	4		4	SHROOM1	5	132160411	Silent	SNP	A	TCGA-XJ-A9DX-01A-11D-A377-08	35798047	132160411	48754849	28	20781											
KDM3B	51780	broad.mit.edu	37	chr5	137727794	137727794	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtcagatttgagtgactctGaggagcagctgcaggctaag	10	10	14	7	0	2	4	1	3	1	1	2	5	2	5	0	2	3	4	0	2	1	2			TCGA-XJ-A9DX-01A-11D-A377-08	TCGA-XJ-A9DX-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	955a0861-eff0-463b-908c-a108ddb4b971	c23cbbc8-b66c-4e06-8c99-00590b5ece18	g.chr5:137727794G>T	ENST00000314358.5	+	8	2673	c.2473G>T	c.(2473-2475)Gag>Tag	p.E825*	KDM3B_ENST00000394866.1_Nonsense_Mutation_p.E481*|KDM3B_ENST00000542866.1_Intron	NM_016604.3	NP_057688	Q7LBC6	KDM3B_HUMAN	lysine (K)-specific demethylase 3B	825					chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(15)|liver(2)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	65						GAGTGACTCTGAGGAGCAGCT	0.557																																						ENST00000314358.5																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(15)|liver(2)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	65						c.(2473-2475)Gag>Tag		lysine (K)-specific demethylase 3B							67	73	71					5																	137727794		2203	4300	6503	SO:0001587	stop_gained	51780				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr5:137727794G>T	AF251039	CCDS34242.1	5q31	2011-07-01	2009-04-06	2009-04-06	ENSG00000120733	ENSG00000120733		"Chromatin-modifying enzymes / K-demethylases"	1337	protein-coding gene	gene with protein product		609373	"chromosome 5 open reading frame 7", "jumonji domain containing 1B"	C5orf7, JMJD1B		15138608	Standard	NM_016604		Approved	KIAA1082, NET22	uc003lcy.1	Q7LBC6	OTTHUMG00000163469	ENST00000314358.5:c.2473G>T	5.37:g.137727794G>T	ENSP00000326563:p.Glu825*					KDM3B_ENST00000394866.1_Nonsense_Mutation_p.E481*|KDM3B_ENST00000542866.1_Intron	p.E825*	NM_016604.3	NP_057688.2	Q7LBC6	KDM3B_HUMAN			8	2673	+			825					A6H8X7|Q9BVH6|Q9BW93|Q9BZ52|Q9NYF4|Q9UPS0	Nonsense_Mutation	SNP	ENST00000314358.5	37	c.2473G>T	CCDS34242.1	.	.	.	.	.	.	.	.	.	.	G	36	5.950516	0.97139	.	.	ENSG00000120733	ENST00000314358;ENST00000545151;ENST00000394866	.	.	.	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.39692	T	0.17	-16.8589	20.106	0.97895	0.0:0.0:1.0:0.0	.	.	.	.	X	825;615;481	.	ENSP00000326563:E825X	E	+	1	0	KDM3B	137755693	1.000000	0.71417	1.000000	0.80357	0.930000	0.56654	8.929000	0.92859	2.762000	0.94881	0.561000	0.74099	GAG		0.557	KDM3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373597.1	NM_016604		7	83	1	0	0.00307968	1	0.00315214	7	83					T	137727794	G	T	137727794	4	4	432	1	0	0	0	0	0	1	0	0	8127	1291	45	5	2503	5	KDM3B	5	137727794	Nonsense_Mutation	SNP	G	TCGA-XJ-A9DX-01A-11D-A377-08	5567383	137727794	43187466	29	20782											
SLIT3	6586	broad.mit.edu	37	chr5	168112857	168112857	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	accacgatgcactgggccccGttctggcactcgtactggtc	6	9	11	15	3	1	0	0	0	1	0	3	1	1	0	3	3	2	4	3	3	1	2			TCGA-XJ-A9DX-01A-11D-A377-08	TCGA-XJ-A9DX-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	955a0861-eff0-463b-908c-a108ddb4b971	c23cbbc8-b66c-4e06-8c99-00590b5ece18	g.chr5:168112857G>A	ENST00000519560.1	-	31	3809	c.3390C>T	c.(3388-3390)aaC>aaT	p.N1130N	SLIT3_ENST00000332966.8_Silent_p.N1137N|SLIT3_ENST00000404867.3_Silent_p.N1130N	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053	O75094	SLIT3_HUMAN	slit homolog 3 (Drosophila)	1130	EGF-like 6. {ECO:0000255|PROSITE- ProRule:PRU00076}.				apoptotic process involved in luteolysis (GO:0061364)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|cellular response to hormone stimulus (GO:0032870)|negative chemotaxis (GO:0050919)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of gene expression (GO:0010629)|organ morphogenesis (GO:0009887)|response to cortisol (GO:0051414)|Roundabout signaling pathway (GO:0035385)	extracellular space (GO:0005615)|mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)|Roundabout binding (GO:0048495)			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			ACTGGGCCCCGTTCTGGCACT	0.637																																					Ovarian(29;311 847 10864 17279 24903)	ENST00000519560.1																			0				endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100						c.(3388-3390)aaC>aaT		slit homolog 3 (Drosophila)							39	36	37					5																	168112857		2203	4300	6503	SO:0001819	synonymous_variant	6586				apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway	extracellular space|mitochondrion	calcium ion binding|Roundabout binding	g.chr5:168112857G>A	AB011538	CCDS4369.1, CCDS64311.1	5q35	2008-07-18	2001-11-28		ENSG00000184347	ENSG00000184347			11087	protein-coding gene	gene with protein product		603745	"slit (Drosophila) homolog 3"	SLIL2		9693030, 9813312	Standard	NM_001271946		Approved	slit2, MEGF5, SLIT1, Slit-3	uc010jjg.4	O75094	OTTHUMG00000130409	ENST00000519560.1:c.3390C>T	5.37:g.168112857G>A						SLIT3_ENST00000404867.3_Silent_p.N1130N|SLIT3_ENST00000332966.8_Silent_p.N1137N	p.N1130N	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053.1	O75094	SLIT3_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		31	3809	-	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	1130			EGF-like 6.		A6H8U9|J3KNP3|O95804|Q9UFH5	Silent	SNP	ENST00000519560.1	37	c.3390C>T	CCDS4369.1																																																																																				0.637	SLIT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252792.4	NM_003062		10	21	0	0	0	1	0	10	21					A	168112857	G	A	168112857	2	1	432	1	0	0	0	0	0	0	0	1	14741	1136	40	1		1	SLIT3	5	168112857	Silent	SNP	G	TCGA-XJ-A9DX-01A-11D-A377-08	30385063	168112857	12802403	30	20783											
PACSIN1	29993	broad.mit.edu	37	chr6	34499497	34499497	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccctttgaggacgactccaaGggagtgcgcgtgcgggcact	7	7	15	12	4	0	1	0	1	0	0	1	4	1	3	2	3	2	1	2	3	1	1	rs201372577		TCGA-XJ-A9DX-01A-11D-A377-08	TCGA-XJ-A9DX-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	955a0861-eff0-463b-908c-a108ddb4b971	c23cbbc8-b66c-4e06-8c99-00590b5ece18	g.chr6:34499497G>C	ENST00000538621.1	+	9	1403	c.1158G>C	c.(1156-1158)aaG>aaC	p.K386N	PACSIN1_ENST00000374043.2_Missense_Mutation_p.K344N|PACSIN1_ENST00000244458.2_Missense_Mutation_p.K386N	NM_001199583.2	NP_001186512.1	Q9BY11	PACN1_HUMAN	protein kinase C and casein kinase substrate in neurons 1	386	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				actin filament organization (GO:0007015)|establishment of protein localization to plasma membrane (GO:0090002)|membrane tubulation (GO:0097320)|neuron projection morphogenesis (GO:0048812)|positive regulation of dendrite development (GO:1900006)|protein localization to membrane (GO:0072657)|synaptic vesicle endocytosis (GO:0048488)	axon terminus (GO:0043679)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|synapse (GO:0045202)	phospholipid binding (GO:0005543)			endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)	13						ACGACTCCAAGGGAGTGCGCG	0.657																																						ENST00000538621.1																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)	13						c.(1156-1158)aaG>aaC		protein kinase C and casein kinase substrate in neurons 1							93	100	98					6																	34499497		2203	4300	6503	SO:0001583	missense	0				endocytosis		protein kinase activity	g.chr6:34499497G>C	AB037800	CCDS4793.1	6p21.3	2008-02-05			ENSG00000124507	ENSG00000124507			8570	protein-coding gene	gene with protein product	"syndapin I"	606512				11179684	Standard	NM_020804		Approved	SDPI	uc003ojp.4	Q9BY11	OTTHUMG00000014547	ENST00000538621.1:c.1158G>C	6.37:g.34499497G>C	ENSP00000439639:p.Lys386Asn					PACSIN1_ENST00000244458.2_Missense_Mutation_p.K386N|PACSIN1_ENST00000374043.2_Missense_Mutation_p.K344N	p.K386N	NM_001199583.1	NP_001186512.1	Q9BY11	PACN1_HUMAN			9	1403	+			386			SH3.		Q9P2G8	Missense_Mutation	SNP	ENST00000538621.1	37	c.1158G>C	CCDS4793.1	.	.	.	.	.	.	.	.	.	.	G	14.64	2.594454	0.46214	.	.	ENSG00000124507	ENST00000244458;ENST00000374043;ENST00000436831;ENST00000538621	T;T;T	0.22336	1.96;1.96;1.96	4.94	1.03	0.20045	Src homology-3 domain (2);	0.159651	0.41001	U	0.000976	T	0.02688	0.0081	N	0.08118	0	0.51482	D	0.999921	P	0.38922	0.651	B	0.30401	0.115	T	0.48151	-0.9060	10	0.27082	T	0.32	-33.0239	8.9974	0.36061	0.4735:0.0:0.5265:0.0	.	386	Q9BY11	PACN1_HUMAN	N	386;344;386;386	ENSP00000244458:K386N;ENSP00000363155:K344N;ENSP00000439639:K386N	ENSP00000244458:K386N	K	+	3	2	PACSIN1	34607475	1.000000	0.71417	0.980000	0.43619	0.961000	0.63080	1.613000	0.36900	0.003000	0.14656	-0.367000	0.07326	AAG		0.657	PACSIN1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040236.1			31	69	0	0	0	1	0	31	69					C	34499497	G	C	34499497	3	2	432	1	0	0	0	0	1	0	0	0	11374	991	35	5	1188	5	PACSIN1	6	34499497	Missense_Mutation	SNP	G	TCGA-XJ-A9DX-01A-11D-A377-08		34499497	136615570	31	20784											
TNFRSF21	27242	broad.mit.edu	37	chr6	47200616	47200616	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtttgtcctcagcctggggaAtctcttcaatcacccgcagc	7	11	9	14	1	4	0	3	0	1	0	6	1	5	1	3	2	2	2	3	2	2	2			TCGA-XJ-A9DX-01A-11D-A377-08	TCGA-XJ-A9DX-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	955a0861-eff0-463b-908c-a108ddb4b971	c23cbbc8-b66c-4e06-8c99-00590b5ece18	g.chr6:47200616A>G	ENST00000296861.2	-	6	2246	c.1853T>C	c.(1852-1854)aTt>aCt	p.I618T		NM_014452.3	NP_055267.1	O75509	TNR21_HUMAN	tumor necrosis factor receptor superfamily, member 21	618					adaptive immune response (GO:0002250)|apoptotic process (GO:0006915)|B cell apoptotic process (GO:0001783)|cellular lipid metabolic process (GO:0044255)|cellular response to tumor necrosis factor (GO:0071356)|humoral immune response (GO:0006959)|myelination (GO:0042552)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of interleukin-10 secretion (GO:2001180)|negative regulation of interleukin-13 secretion (GO:2000666)|negative regulation of interleukin-5 secretion (GO:2000663)|negative regulation of myelination (GO:0031642)|negative regulation of T cell proliferation (GO:0042130)|neuron apoptotic process (GO:0051402)|oligodendrocyte apoptotic process (GO:0097252)|regulation of oligodendrocyte differentiation (GO:0048713)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)	axon (GO:0030424)|integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|lung(7)|pancreas(1)|skin(2)	21			Lung(136;0.189)			AGCCTGGGGAATCTCTTCAAT	0.517																																						ENST00000296861.2																			0				breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|lung(7)|pancreas(1)|skin(2)	21						c.(1852-1854)aTt>aCt		tumor necrosis factor receptor superfamily, member 21							121	130	127					6																	47200616		2203	4300	6503	SO:0001583	missense	27242				cellular lipid metabolic process	cytoplasm|integral to membrane	protein binding|receptor activity	g.chr6:47200616A>G	AF068868	CCDS4921.1	6p21.1	2011-08-11			ENSG00000146072	ENSG00000146072		"Tumor necrosis factor receptor superfamily", "CD molecules"	13469	protein-coding gene	gene with protein product	"death receptor 6"	605732				9714541	Standard	NM_014452		Approved	DR6, CD358	uc003oyv.3	O75509	OTTHUMG00000014796	ENST00000296861.2:c.1853T>C	6.37:g.47200616A>G	ENSP00000296861:p.Ile618Thr						p.I618T	NM_014452.3	NP_055267.1	O75509	TNR21_HUMAN	Lung(136;0.189)		6	2246	-			618					B2RDI9|Q0D2P5|Q96D86	Missense_Mutation	SNP	ENST00000296861.2	37	c.1853T>C	CCDS4921.1	.	.	.	.	.	.	.	.	.	.	A	13.36	2.213716	0.39102	.	.	ENSG00000146072	ENST00000296861;ENST00000419206	T	0.72282	-0.64	5.95	4.8	0.61643	.	0.141501	0.64402	N	0.000005	T	0.42426	0.1202	L	0.27053	0.805	0.51767	D	0.999931	B	0.16802	0.019	B	0.19391	0.025	T	0.46005	-0.9222	10	0.59425	D	0.04	.	10.7009	0.45926	0.9283:0.0:0.0717:0.0	.	618	O75509	TNR21_HUMAN	T	618;307	ENSP00000296861:I618T	ENSP00000296861:I618T	I	-	2	0	TNFRSF21	47308575	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	5.184000	0.65070	1.082000	0.41137	0.533000	0.62120	ATT		0.517	TNFRSF21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040814.1	NM_014452		16	228	0	0	0	1	0	16	228					G	47200616	A	G	47200616	3	3	432	1	0	0	0	0	1	0	0	0	16292	101	4	4	118	4	TNFRSF21	6	47200616	Missense_Mutation	SNP	A	TCGA-XJ-A9DX-01A-11D-A377-08	12701119	47200616	123914451	32	20785											
ZAN	7455	broad.mit.edu	37	chr7	100350582	100350582	+	RNA	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cagaaaaacccaccatctccCcagaaaaactcaccatcccc	16	4	2	19	0	2	2	1	0	1	2	4	2	3	2	7	0	2	0	7	0	4	0	rs199651674	byFrequency	TCGA-XJ-A9DX-01A-11D-A377-08	TCGA-XJ-A9DX-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	955a0861-eff0-463b-908c-a108ddb4b971	c23cbbc8-b66c-4e06-8c99-00590b5ece18	g.chr7:100350582C>A	ENST00000348028.3	+	0	3019				ZAN_ENST00000449052.1_RNA|ZAN_ENST00000542585.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000349350.6_RNA			Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida (GO:0007339)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			CACCATCTCCCCAGAAAAACT	0.507													a|||	7	0.00139776	0.003	0	5008	,	,		19118	0.002		0.001	False		,,,				2504	0					ENST00000542585.1																			0				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139								zonadhesin (gene/pseudogene)		A	THR/PRO,THR/PRO	3,3703		0,3,1850	215	258	245		2854,2854	-1.5	0	7		245	0,8182		0,0,4091	yes	missense,missense	ZAN	NM_003386.1,NM_173059.1	38,38	0,3,5941	AA,AC,CC		0.0,0.0809,0.0252	benign,benign	952/2813,952/2722	100350582	3,11885	1853	4091	5944			7455				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane		g.chr7:100350582C>A	U83191		7q22.1	2013-10-10	2013-10-10		ENSG00000146839	ENSG00000146839			12857	protein-coding gene	gene with protein product		602372	"zonadhesin"			9799793, 17033959	Standard	NM_003386		Approved		uc003uwk.3	Q9Y493	OTTHUMG00000157037		7.37:g.100350582C>A						ZAN_ENST00000427578.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000546213.1_RNA		NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	STAD - Stomach adenocarcinoma(171;0.19)		0	3002	+	Lung NSC(181;0.041)|all_lung(186;0.0581)							A0FKC8|D6W5W4|O00218|Q96L85|Q96L86|Q96L87|Q96L88|Q96L89|Q96L90|Q9BXN9|Q9BZ83|Q9BZ84|Q9BZ85|Q9BZ86|Q9BZ87|Q9BZ88	RNA	SNP	ENST00000348028.3	37			.	.	.	.	.	.	.	.	.	.	A	3.333	-0.136296	0.06711	8.09E-4	0.0	ENSG00000146839	ENST00000546292;ENST00000538115;ENST00000542585	T;T;T	0.55052	0.54;0.54;0.54	2.8	-1.52	0.08637	.	0.870109	0.09349	N	0.814435	T	0.20007	0.0481	N	0.01048	-1.04	0.31076	N	0.712413	B;B	0.11235	0.004;0.002	B;B	0.12156	0.007;0.002	T	0.16928	-1.0386	10	0.35671	T	0.21	.	5.9752	0.19375	0.308:0.522:0.0:0.17	.	952;952	F5H0T8;Q9Y493	.;ZAN_HUMAN	T	952	ENSP00000445943:P952T;ENSP00000445091:P952T;ENSP00000444427:P952T	ENSP00000423579:P952T	P	+	1	0	ZAN	100188518	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-3.423000	0.00476	-0.720000	0.04935	-1.819000	0.00600	CCA		0.507	ZAN-006	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000347214.1	NM_003386		5	218	1	0	8.12818e-05	1	8.62381e-05	5	218					A	100350582	C	A	100350582	1	1	432	0	1	0	0	0	0	0	0	0	17510	623	22	5		5	ZAN	7	100350582	RNA	SNP	C	TCGA-XJ-A9DX-01A-11D-A377-08		100350582	58788081	33	20786											
MKRN1	23608	broad.mit.edu	37	chr7	140159705	140159705	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tagctctgtagcagttgcttCttcctgtttcaatggtttgc	5	18	9	9	0	3	0	1	0	2	0	4	0	4	0	1	1	4	7	1	1	3	7			TCGA-XJ-A9DX-01A-11D-A377-08	TCGA-XJ-A9DX-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	955a0861-eff0-463b-908c-a108ddb4b971	c23cbbc8-b66c-4e06-8c99-00590b5ece18	g.chr7:140159705C>G	ENST00000255977.2	-	3	570	c.346G>C	c.(346-348)Gaa>Caa	p.E116Q	MKRN1_ENST00000481705.1_5'Flank|MKRN1_ENST00000480552.1_Intron|MKRN1_ENST00000443720.2_Missense_Mutation_p.E116Q|MKRN1_ENST00000437223.2_Intron|MKRN1_ENST00000474576.1_Missense_Mutation_p.E52Q	NM_013446.3	NP_038474.2	Q9UHC7	MKRN1_HUMAN	makorin ring finger protein 1	116					protein polyubiquitination (GO:0000209)		chromatin binding (GO:0003682)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	16	Melanoma(164;0.00956)					GCAGTTGCTTCTTCCTGTTTC	0.433																																						ENST00000255977.2																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	16						c.(346-348)Gaa>Caa		makorin ring finger protein 1							126	130	129					7																	140159705		2203	4300	6503	SO:0001583	missense	23608						ligase activity|nucleic acid binding|protein binding|zinc ion binding	g.chr7:140159705C>G	AF192784	CCDS5860.1, CCDS47725.1	7q34	2013-01-09	2008-08-13		ENSG00000133606	ENSG00000133606		"RING-type (C3HC4) zinc fingers"	7112	protein-coding gene	gene with protein product		607754				10843807	Standard	NM_013446		Approved	RNF61	uc003vvt.2	Q9UHC7	OTTHUMG00000157412	ENST00000255977.2:c.346G>C	7.37:g.140159705C>G	ENSP00000255977:p.Glu116Gln					MKRN1_ENST00000474576.1_Missense_Mutation_p.E52Q|MKRN1_ENST00000480552.1_Intron|MKRN1_ENST00000437223.2_Intron|MKRN1_ENST00000443720.2_Missense_Mutation_p.E116Q	p.E116Q	NM_013446.3	NP_038474.2	Q9UHC7	MKRN1_HUMAN			3	570	-	Melanoma(164;0.00956)		116					A4D1T7|B3KXB4|Q256Y7|Q59G11|Q6GSF1|Q9H0G0|Q9UEZ7|Q9UHW2	Missense_Mutation	SNP	ENST00000255977.2	37	c.346G>C	CCDS5860.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.264894	0.80358	.	.	ENSG00000133606	ENST00000255977;ENST00000539898;ENST00000474576;ENST00000443720;ENST00000471104;ENST00000467513;ENST00000494939;ENST00000473444	T;T;T;T;T;T;T	0.33438	2.89;2.2;2.47;1.85;1.82;1.84;1.41	5.45	5.45	0.79879	.	0.170068	0.49916	D	0.000125	T	0.41789	0.1174	M	0.66939	2.045	0.80722	D	1	D	0.64830	0.994	P	0.49226	0.603	T	0.20706	-1.0267	10	0.15499	T	0.54	.	19.2921	0.94103	0.0:1.0:0.0:0.0	.	116	Q9UHC7	MKRN1_HUMAN	Q	116;52;52;116;52;52;52;67	ENSP00000255977:E116Q;ENSP00000417863:E52Q;ENSP00000416369:E116Q;ENSP00000418864:E52Q;ENSP00000418588:E52Q;ENSP00000419843:E52Q;ENSP00000418620:E67Q	ENSP00000255977:E116Q	E	-	1	0	MKRN1	139806174	1.000000	0.71417	0.996000	0.52242	0.849000	0.48306	5.044000	0.64214	2.575000	0.86900	0.455000	0.32223	GAA		0.433	MKRN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348752.1	NM_013446		20	37	0	0	0	1	0	20	37					G	140159705	C	G	140159705	3	3	432	1	0	0	0	0	1	0	0	0	9606	922	32	5	1130	5	MKRN1	7	140159705	Missense_Mutation	SNP	C	TCGA-XJ-A9DX-01A-11D-A377-08	39809123	140159705	18978958	34	20787											
CLDN23	137075	broad.mit.edu	37	chr8	8560290	8560290	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcttcgtcgctggcctcctcGgcctcatcccggtgtcctgg	1	12	11	17	4	2	0	1	0	1	0	8	0	5	0	5	4	0	1	5	4	0	1			TCGA-XJ-A9DX-01A-11D-A377-08	TCGA-XJ-A9DX-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	955a0861-eff0-463b-908c-a108ddb4b971	c23cbbc8-b66c-4e06-8c99-00590b5ece18	g.chr8:8560290G>A	ENST00000519106.1	+	1	843	c.382G>A	c.(382-384)Ggc>Agc	p.G128S		NM_194284.2	NP_919260.2	Q96B33	CLD23_HUMAN	claudin 23	128					calcium-independent cell-cell adhesion (GO:0016338)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|tight junction assembly (GO:0070830)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	identical protein binding (GO:0042802)|structural molecule activity (GO:0005198)			endometrium(2)	2		Hepatocellular(245;0.217)		COAD - Colon adenocarcinoma(149;0.071)|READ - Rectum adenocarcinoma(644;0.238)		TGGCCTCCTCGGCCTCATCCC	0.697																																						ENST00000519106.1																			0				endometrium(2)	2						c.(382-384)Ggc>Agc		claudin 23							20	23	22					8																	8560290		2159	4233	6392	SO:0001583	missense	137075				calcium-independent cell-cell adhesion|tight junction assembly	integral to membrane|tight junction	identical protein binding|structural molecule activity	g.chr8:8560290G>A	AK123547	CCDS55195.1	8p23.1	2006-04-12				ENSG00000253958		"Claudins"	17591	protein-coding gene	gene with protein product		609203				12736707	Standard	NM_194284		Approved	CLDNL	uc003wsi.3	Q96B33		ENST00000519106.1:c.382G>A	8.37:g.8560290G>A	ENSP00000428780:p.Gly128Ser						p.G128S	NM_194284.2	NP_919260.2	Q96B33	CLD23_HUMAN		COAD - Colon adenocarcinoma(149;0.071)|READ - Rectum adenocarcinoma(644;0.238)	1	843	+		Hepatocellular(245;0.217)	128					Q08AJ3	Missense_Mutation	SNP	ENST00000519106.1	37	c.382G>A	CCDS55195.1	.	.	.	.	.	.	.	.	.	.	A	1.180	-0.638401	0.03557	.	.	ENSG00000253958	ENST00000519106	D	0.87650	-2.28	4.69	2.0	0.26442	.	.	.	.	.	T	0.65123	0.2661	N	0.01473	-0.845	0.09310	N	0.999991	B	0.06786	0.001	B	0.10450	0.005	T	0.52578	-0.8557	9	0.12103	T	0.63	.	8.5704	0.33565	0.6954:0.0:0.3046:0.0	.	128	Q96B33	CLD23_HUMAN	S	128	ENSP00000428780:G128S	ENSP00000428780:G128S	G	+	1	0	CLDN23	8597700	0.839000	0.29477	0.753000	0.31225	0.369000	0.29798	1.371000	0.34250	0.267000	0.21916	-0.521000	0.04368	GGC		0.697	CLDN23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374721.1	NM_194284		16	26	0	0	0	1	0	16	26					A	8560290	G	A	8560290	3	1	432	1	0	0	0	0	1	0	0	0	3484	1116	39	2	384	2	CLDN23	8	8560290	Missense_Mutation	SNP	G	TCGA-XJ-A9DX-01A-11D-A377-08		8560290	137803732	35	20788											
FGFR1	2260	broad.mit.edu	37	chr8	38271265	38271265	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgaggagcacgtagagctccGggtgtcgggaaagctggggg	8	6	20	7	3	0	2	0	1	0	1	2	4	1	4	1	5	3	4	1	5	2	1	rs377149398		TCGA-XJ-A9DX-01A-11D-A377-08	TCGA-XJ-A9DX-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	955a0861-eff0-463b-908c-a108ddb4b971	c23cbbc8-b66c-4e06-8c99-00590b5ece18	g.chr8:38271265G>A	ENST00000447712.2	-	18	3291	c.2350C>T	c.(2350-2352)Cgg>Tgg	p.R784W	FGFR1_ENST00000356207.5_Missense_Mutation_p.R695W|FGFR1_ENST00000397108.4_Missense_Mutation_p.R782W|FGFR1_ENST00000341462.5_Missense_Mutation_p.R784W|FGFR1_ENST00000326324.6_Missense_Mutation_p.R693W|FGFR1_ENST00000397113.2_Missense_Mutation_p.R782W|FGFR1_ENST00000397091.5_Missense_Mutation_p.R782W|FGFR1_ENST00000397103.1_Missense_Mutation_p.R695W|FGFR1_ENST00000532791.1_Missense_Mutation_p.R782W|FGFR1_ENST00000425967.3_Missense_Mutation_p.R815W|FGFR1_ENST00000335922.5_Missense_Mutation_p.R774W	NM_001174063.1|NM_015850.3|NM_023110.2	NP_001167534.1|NP_056934.2|NP_075598.2	P11362	FGFR1_HUMAN	fibroblast growth factor receptor 1	784					angiogenesis (GO:0001525)|auditory receptor cell development (GO:0060117)|axon guidance (GO:0007411)|branching involved in salivary gland morphogenesis (GO:0060445)|cell maturation (GO:0048469)|cell migration (GO:0016477)|chondrocyte differentiation (GO:0002062)|chordate embryonic development (GO:0043009)|embryonic limb morphogenesis (GO:0030326)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development (GO:0035607)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inner ear morphogenesis (GO:0042472)|insulin receptor signaling pathway (GO:0008286)|lung-associated mesenchyme development (GO:0060484)|MAPK cascade (GO:0000165)|mesenchymal cell differentiation (GO:0048762)|midbrain development (GO:0030901)|middle ear morphogenesis (GO:0042474)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ induction (GO:0001759)|outer ear morphogenesis (GO:0042473)|paraxial mesoderm development (GO:0048339)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway (GO:0090080)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of phospholipase C activity (GO:0010863)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling (GO:0060665)|regulation of cell differentiation (GO:0045595)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|regulation of lateral mesodermal cell fate specification (GO:0048378)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|skeletal system morphogenesis (GO:0048705)|transcription, DNA-templated (GO:0006351)|ureteric bud development (GO:0001657)|ventricular zone neuroblast division (GO:0021847)	cytoplasmic vesicle (GO:0031410)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|fibroblast growth factor binding (GO:0017134)|fibroblast growth factor-activated receptor activity (GO:0005007)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)		FGFR1/ZNF703(2)	breast(2)|central_nervous_system(7)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(18)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2)	50	all_cancers(2;9.05e-47)|all_epithelial(2;2.64e-50)|all_lung(3;1.71e-23)|Lung NSC(2;3.61e-23)|Colorectal(12;0.000442)	Breast(189;1.48e-05)|all_lung(54;0.00354)|Lung NSC(58;0.0138)|Hepatocellular(245;0.065)	Epithelial(3;3.96e-34)|all cancers(3;3.06e-30)|BRCA - Breast invasive adenocarcinoma(5;2.28e-21)|COAD - Colon adenocarcinoma(9;0.24)		Palifermin(DB00039)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)	GTAGAGCTCCGGGTGTCGGGA	0.662		1	T	"BCR, FOP, ZNF198, CEP1"	"MPD, NHL"		"Pfeiffer syndrome, Kallman syndrome"																														Melanoma(146;1153 1840 21453 21841 43625)	ENST00000341462.5		1		Dom	yes		8	8p11.2-p11.1	2260	T	fibroblast growth factor receptor 1	yes	"Pfeiffer syndrome, Kallman syndrome"	L	"BCR, FOP, ZNF198, CEP1"		"MPD, NHL"	FGFR1/ZNF703(2)	0				breast(2)|central_nervous_system(7)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(18)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2)	50						c.(2350-2352)Cgg>Tgg		fibroblast growth factor receptor 1	Palifermin(DB00039)	G	TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG	0,4012		0,0,2006	30	37	35		2344,2320,2344,2083,2443,2344,2083,2077,2350	5.5	1	8		35	1,8351		0,1,4175	no	missense,missense,missense,missense,missense,missense,missense,missense,missense	FGFR1	NM_001174063.1,NM_001174064.1,NM_001174065.1,NM_001174066.1,NM_001174067.1,NM_015850.3,NM_023105.2,NM_023106.2,NM_023110.2	101,101,101,101,101,101,101,101,101	0,1,6181	AA,AG,GG		0.012,0.0,0.0081	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	782/821,774/813,782/821,695/734,815/854,782/821,695/734,693/732,784/823	38271265	1,12363	2006	4176	6182	SO:0001583	missense	2260				axon guidance|cell growth|insulin receptor signaling pathway|MAPKKK cascade|positive regulation of cell proliferation|skeletal system development	extracellular region|integral to plasma membrane|membrane fraction	ATP binding|fibroblast growth factor receptor activity|heparin binding|protein homodimerization activity	g.chr8:38271265G>A	M34185	CCDS6107.2, CCDS43730.1, CCDS43731.1, CCDS43732.1, CCDS55221.1, CCDS55222.1, CCDS55223.1	8p11.23-p11.22	2014-04-03	2008-08-01		ENSG00000077782	ENSG00000077782	2.7.10.1	"CD molecules", "Immunoglobulin superfamily / I-set domain containing"	3688	protein-coding gene	gene with protein product	"Pfeiffer syndrome"	136350	"fms-related tyrosine kinase 2"	FLT2, KAL2		2162671	Standard	NM_015850		Approved	H2, H3, H4, H5, CEK, FLG, BFGFR, N-SAM, CD331	uc011lbu.2	P11362	OTTHUMG00000147366	ENST00000447712.2:c.2350C>T	8.37:g.38271265G>A	ENSP00000400162:p.Arg784Trp					FGFR1_ENST00000397103.1_Missense_Mutation_p.R695W|FGFR1_ENST00000397113.2_Missense_Mutation_p.R782W|FGFR1_ENST00000356207.5_Missense_Mutation_p.R695W|FGFR1_ENST00000397091.5_Missense_Mutation_p.R782W|FGFR1_ENST00000532791.1_Missense_Mutation_p.R782W|FGFR1_ENST00000326324.6_Missense_Mutation_p.R693W|FGFR1_ENST00000425967.3_Missense_Mutation_p.R815W|FGFR1_ENST00000335922.5_Missense_Mutation_p.R774W|FGFR1_ENST00000447712.2_Missense_Mutation_p.R784W|FGFR1_ENST00000397108.4_Missense_Mutation_p.R782W	p.R784W			P11362	FGFR1_HUMAN	Epithelial(3;3.96e-34)|all cancers(3;3.06e-30)|BRCA - Breast invasive adenocarcinoma(5;2.28e-21)|COAD - Colon adenocarcinoma(9;0.24)		18	3291	-	all_cancers(2;9.05e-47)|all_epithelial(2;2.64e-50)|all_lung(3;1.71e-23)|Lung NSC(2;3.61e-23)|Colorectal(12;0.000442)	Breast(189;1.48e-05)|all_lung(54;0.00354)|Lung NSC(58;0.0138)|Hepatocellular(245;0.065)	784					A8K6T9|A8K8V5|C1KBH8|P17049|Q02063|Q02065|Q14306|Q14307|Q53H63|Q59H40|Q5BJG2|Q8N685|Q9UD50|Q9UDF0|Q9UDF1|Q9UDF2	Missense_Mutation	SNP	ENST00000447712.2	37	c.2350C>T	CCDS6107.2	.	.	.	.	.	.	.	.	.	.	G	21.3	4.123349	0.77436	0.0	1.2E-4	ENSG00000077782	ENST00000397091;ENST00000425967;ENST00000447712;ENST00000341462;ENST00000532791;ENST00000397113;ENST00000356207;ENST00000335922;ENST00000326324;ENST00000397103;ENST00000397108	T;T;T;T;T;T;T;T;T;T;T	0.78707	-1.2;-1.2;-1.2;-1.2;-1.2;-1.2;-1.2;-1.2;-1.2;-1.2;-1.2	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	D	0.88485	0.6449	M	0.74258	2.255	0.58432	D	0.999999	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.999;0.999;0.999;1.0;1.0	D	0.89111	0.3496	10	0.72032	D	0.01	.	19.4585	0.94906	0.0:0.0:1.0:0.0	.	693;693;784;774;782	P11362-14;P11362-4;P11362;P11362-20;P11362-2	.;.;FGFR1_HUMAN;.;.	W	782;815;784;784;782;782;695;774;693;695;782	ENSP00000380280:R782W;ENSP00000393312:R815W;ENSP00000400162:R784W;ENSP00000340636:R784W;ENSP00000432972:R782W;ENSP00000380302:R782W;ENSP00000348537:R695W;ENSP00000337247:R774W;ENSP00000327229:R693W;ENSP00000380292:R695W;ENSP00000380297:R782W	ENSP00000327229:R693W	R	-	1	2	FGFR1	38390422	1.000000	0.71417	0.999000	0.59377	0.990000	0.78478	2.554000	0.45845	2.602000	0.87976	0.655000	0.94253	CGG		0.662	FGFR1-203	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding				10	27	0	0	0	1	0	10	27					A	38271265	G	A	38271265	3	1	432	1	0	0	0	0	1	0	0	0	5863	1115	39	2	122	2	FGFR1	8	38271265	Missense_Mutation	SNP	G	TCGA-XJ-A9DX-01A-11D-A377-08	29710975	38271265	108092757	36	20789											
FZD6	8323	broad.mit.edu	37	chr8	104337700	104337700	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gggtctctgatcattgtcgtCagtaccatatcccatgtcct	7	14	8	12	1	3	1	2	1	1	0	7	1	5	1	3	1	1	1	3	1	2	3			TCGA-XJ-A9DX-01A-11D-A377-08	TCGA-XJ-A9DX-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	955a0861-eff0-463b-908c-a108ddb4b971	c23cbbc8-b66c-4e06-8c99-00590b5ece18	g.chr8:104337700C>T	ENST00000358755.4	+	4	1683	c.1366C>T	c.(1366-1368)Cag>Tag	p.Q456*	FZD6_ENST00000540287.1_Nonsense_Mutation_p.Q151*|FZD6_ENST00000522566.1_Nonsense_Mutation_p.Q456*|FZD6_ENST00000523739.1_Nonsense_Mutation_p.Q424*	NM_001164616.1|NM_003506.3	NP_001158088.1|NP_003497.2	O60353	FZD6_HUMAN	frizzled class receptor 6	456					angiogenesis (GO:0001525)|axonogenesis (GO:0007409)|cell proliferation in midbrain (GO:0033278)|embryonic nail plate morphogenesis (GO:0035880)|establishment of planar polarity (GO:0001736)|G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:0007199)|gonad development (GO:0008406)|hair follicle development (GO:0001942)|inner ear morphogenesis (GO:0042472)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|neural tube closure (GO:0001843)|non-canonical Wnt signaling pathway (GO:0035567)|platelet activation (GO:0030168)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	apical part of cell (GO:0045177)|apicolateral plasma membrane (GO:0016327)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|neuron projection membrane (GO:0032589)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|ubiquitin protein ligase binding (GO:0031625)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	24			OV - Ovarian serous cystadenocarcinoma(57;2.86e-05)|STAD - Stomach adenocarcinoma(118;0.197)			TCATTGTCGTCAGTACCATAT	0.378																																						ENST00000358755.4																			0				central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	24						c.(1366-1368)Cag>Tag		frizzled family receptor 6							143	122	129					8																	104337700		2203	4300	6503	SO:0001587	stop_gained	8323				angiogenesis|axonogenesis|cell proliferation in midbrain|establishment of planar polarity|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|inner ear morphogenesis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of sequence-specific DNA binding transcription factor activity|neural tube closure|non-canonical Wnt receptor signaling pathway	apical part of cell|apicolateral plasma membrane|cytoplasm|integral to plasma membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding	g.chr8:104337700C>T	AB012911	CCDS6298.1, CCDS55268.1	8q22.3-q23.1	2014-01-29	2014-01-29		ENSG00000164930	ENSG00000164930		"GPCR / Class F : Frizzled receptors"	4044	protein-coding gene	gene with protein product		603409	"frizzled (Drosophila) homolog 6", "frizzled homolog 6 (Drosophila)", "frizzled 6, seven transmembrane spanning receptor", "frizzled family receptor 6"			9480858, 14747478	Standard	NM_003506		Approved	Hfz6	uc003ylh.3	O60353	OTTHUMG00000164840	ENST00000358755.4:c.1366C>T	8.37:g.104337700C>T	ENSP00000351605:p.Gln456*					FZD6_ENST00000540287.1_Nonsense_Mutation_p.Q151*|FZD6_ENST00000523739.1_Nonsense_Mutation_p.Q424*|FZD6_ENST00000522566.1_Nonsense_Mutation_p.Q456*	p.Q456*	NM_001164616.1|NM_003506.3	NP_001158088.1|NP_003497.2	O60353	FZD6_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;2.86e-05)|STAD - Stomach adenocarcinoma(118;0.197)		4	1683	+			456					B4DRN0|Q6N0A5|Q6P9C3|Q8WXR9	Nonsense_Mutation	SNP	ENST00000358755.4	37	c.1366C>T	CCDS6298.1	.	.	.	.	.	.	.	.	.	.	C	39	7.607867	0.98387	.	.	ENSG00000164930	ENST00000522566;ENST00000358755;ENST00000523739;ENST00000540287;ENST00000539487	.	.	.	6.16	5.27	0.74061	.	0.303058	0.37178	N	0.002211	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.17832	T	0.49	.	15.9594	0.79918	0.0:0.6231:0.3769:0.0	.	.	.	.	X	456;456;424;151;401	.	ENSP00000351605:Q456X	Q	+	1	0	FZD6	104406876	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.625000	0.54238	1.582000	0.49881	0.650000	0.86243	CAG		0.378	FZD6-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380560.1	NM_003506		24	88	0	0	0	1	0	24	88					T	104337700	C	T	104337700	4	4	432	1	0	0	0	0	0	1	0	0	6134	827	29	3	1376	3	FZD6	8	104337700	Nonsense_Mutation	SNP	C	TCGA-XJ-A9DX-01A-11D-A377-08	66066435	104337700	42026322	37	20790											
CCL21	6366	broad.mit.edu	37	chr9	34709503	34709503	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctcagattcctcacctcttgCagcctttggagccctttcct	5	14	6	16	0	3	1	2	0	1	1	5	2	5	2	5	1	3	1	5	1	0	4			TCGA-XJ-A9DX-01A-11D-A377-08	TCGA-XJ-A9DX-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	955a0861-eff0-463b-908c-a108ddb4b971	c23cbbc8-b66c-4e06-8c99-00590b5ece18	g.chr9:34709503C>T	ENST00000259607.2	-	3	422	c.365G>A	c.(364-366)tGc>tAc	p.C122Y	CCL21_ENST00000378792.1_Missense_Mutation_p.C122Y	NM_002989.2	NP_002980.1	O00585	CCL21_HUMAN	chemokine (C-C motif) ligand 21	122	C-terminal basic extension.				activation of Rho GTPase activity (GO:0032862)|cell chemotaxis (GO:0060326)|cell maturation (GO:0048469)|cell-cell signaling (GO:0007267)|dendritic cell chemotaxis (GO:0002407)|dendritic cell dendrite assembly (GO:0097026)|establishment of T cell polarity (GO:0001768)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|immunological synapse formation (GO:0001771)|inflammatory response (GO:0006954)|mesangial cell-matrix adhesion (GO:0035759)|negative regulation of dendritic cell dendrite assembly (GO:2000548)|negative regulation of leukocyte apoptotic process (GO:2000107)|negative regulation of leukocyte tethering or rolling (GO:1903237)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cell motility (GO:2000147)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of chemotaxis (GO:0050921)|positive regulation of dendritic cell antigen processing and presentation (GO:0002606)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of glycoprotein biosynthetic process (GO:0010560)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of JNK cascade (GO:0046330)|positive regulation of myeloid dendritic cell chemotaxis (GO:2000529)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of pseudopodium assembly (GO:0031274)|positive regulation of receptor-mediated endocytosis (GO:0048260)|positive regulation of T cell migration (GO:2000406)|release of sequestered calcium ion into cytosol (GO:0051209)|response to prostaglandin E (GO:0034695)|ruffle organization (GO:0031529)|T cell costimulation (GO:0031295)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	CCR7 chemokine receptor binding (GO:0031732)|chemokine activity (GO:0008009)|chemokine receptor binding (GO:0042379)			large_intestine(4)	4	all_epithelial(49;0.0899)		STAD - Stomach adenocarcinoma(86;0.178)	GBM - Glioblastoma multiforme(74;0.173)		TCACCTCTTGCAGCCTTTGGA	0.597																																						ENST00000259607.2																			0				large_intestine(4)	4						c.(364-366)tGc>tAc		chemokine (C-C motif) ligand 21							88	86	87					9																	34709503		2203	4300	6503	SO:0001583	missense	6366				activation of Rho GTPase activity|cell maturation|cell-cell signaling|dendritic cell chemotaxis|dendritic cell dendrite assembly|establishment of T cell polarity|immune response|immunological synapse formation|inflammatory response|mesangial cell-matrix adhesion|negative regulation of leukocyte apoptosis|positive regulation of actin filament polymerization|positive regulation of cell adhesion mediated by integrin|positive regulation of cell-matrix adhesion|positive regulation of dendritic cell antigen processing and presentation|positive regulation of ERK1 and ERK2 cascade|positive regulation of filopodium assembly|positive regulation of glycoprotein biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of JNK cascade|positive regulation of myeloid dendritic cell chemotaxis|positive regulation of neutrophil chemotaxis|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of protein kinase activity|positive regulation of protein kinase B signaling cascade|positive regulation of pseudopodium assembly|positive regulation of receptor-mediated endocytosis|release of sequestered calcium ion into cytosol|response to prostaglandin E stimulus|ruffle organization|T cell costimulation	extracellular space	CCR7 chemokine receptor binding|chemokine activity	g.chr9:34709503C>T	AB002409	CCDS6571.1	9p13	2014-05-16	2002-08-22	2002-08-23	ENSG00000137077	ENSG00000137077		"Chemokine ligands", "Endogenous ligands"	10620	protein-coding gene	gene with protein product	"beta chemokine exodus-2", "secondary lymphoid tissue chemokine", "Efficient Chemoattractant for Lymphocytes"	602737	"small inducible cytokine subfamily A (Cys-Cys), member 21"	SCYA21		9235955	Standard	NM_002989		Approved	SLC, exodus-2, TCA4, CKb9, 6Ckine, ECL	uc003zvo.4	O00585	OTTHUMG00000019838	ENST00000259607.2:c.365G>A	9.37:g.34709503C>T	ENSP00000259607:p.Cys122Tyr					CCL21_ENST00000378792.1_Missense_Mutation_p.C122Y	p.C122Y	NM_002989.2	NP_002980.1	O00585	CCL21_HUMAN	STAD - Stomach adenocarcinoma(86;0.178)	GBM - Glioblastoma multiforme(74;0.173)	3	422	-	all_epithelial(49;0.0899)		122			C-terminal basic extension.			Missense_Mutation	SNP	ENST00000259607.2	37	c.365G>A	CCDS6571.1	.	.	.	.	.	.	.	.	.	.	C	12.20	1.866414	0.32977	.	.	ENSG00000137077	ENST00000259607;ENST00000378792	T;T	0.03272	4.18;3.99	5.36	4.47	0.54385	.	0.284459	0.25197	N	0.032406	T	0.08891	0.0220	L	0.55990	1.75	0.41581	D	0.988742	D	0.58970	0.984	P	0.54372	0.75	T	0.18587	-1.0332	10	0.37606	T	0.19	-3.7808	10.2727	0.43491	0.0:0.9081:0.0:0.0919	.	122	O00585	CCL21_HUMAN	Y	122	ENSP00000259607:C122Y;ENSP00000368069:C122Y	ENSP00000259607:C122Y	C	-	2	0	CCL21	34699503	1.000000	0.71417	1.000000	0.80357	0.339000	0.28857	0.804000	0.27098	1.399000	0.46721	0.650000	0.86243	TGC		0.597	CCL21-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052245.1	NM_002989		3	55	0	0	0	1	0	3	55					T	34709503	C	T	34709503	3	4	432	1	0	0	0	0	1	0	0	0	2893	710	25	3	47	3	CCL21	9	34709503	Missense_Mutation	SNP	C	TCGA-XJ-A9DX-01A-11D-A377-08		34709503	106503928	38	20791											
TLE1	7088	broad.mit.edu	37	chr9	84202653	84202653	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgcgcaggtcccaggacctGactgtgttgtccaaaccacc	8	8	10	15	2	0	1	0	1	0	0	3	2	2	2	5	2	1	2	5	2	1	1			TCGA-XJ-A9DX-01A-11D-A377-08	TCGA-XJ-A9DX-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	955a0861-eff0-463b-908c-a108ddb4b971	c23cbbc8-b66c-4e06-8c99-00590b5ece18	g.chr9:84202653G>T	ENST00000376499.3	-	17	2984	c.1920C>A	c.(1918-1920)gtC>gtA	p.V640V		NM_005077.3	NP_005068.2	Q04724	TLE1_HUMAN	transducin-like enhancer of split 1 (E(sp1) homolog, Drosophila)	640					multicellular organismal development (GO:0007275)|negative regulation of anoikis (GO:2000811)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of Wnt signaling pathway (GO:0030178)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|positive regulation of gene expression (GO:0010628)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|identical protein binding (GO:0042802)|RNA polymerase II transcription corepressor activity (GO:0001106)|transcription factor binding (GO:0008134)			NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	29						CCCAGGACCTGACTGTGTTGT	0.597																																					NSCLC(155;1437 1995 30668 39354 45875)|Melanoma(16;266 781 14000 47728 51870)	ENST00000376499.3																			0				NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	29						c.(1918-1920)gtC>gtA		transducin-like enhancer of split 1 (E(sp1) homolog, Drosophila)							67	65	66					9																	84202653		2203	4300	6503	SO:0001819	synonymous_variant	7088				negative regulation of Wnt receptor signaling pathway|organ morphogenesis|transcription, DNA-dependent|Wnt receptor signaling pathway		transcription factor binding	g.chr9:84202653G>T		CCDS6661.1	9q21.32	2013-01-10	2001-11-28		ENSG00000196781	ENSG00000196781		"WD repeat domain containing"	11837	protein-coding gene	gene with protein product	"enhancer of split groucho 1"	600189	"transducin-like enhancer of split 1, homolog of Drosophila E(sp1)"			8365415, 8808280	Standard	NM_005077		Approved	ESG1, GRG1, ESG	uc004aly.3	Q04724	OTTHUMG00000021008	ENST00000376499.3:c.1920C>A	9.37:g.84202653G>T							p.V640V	NM_005077.3	NP_005068.2	Q04724	TLE1_HUMAN			17	2984	-			640					A8K495|Q5T3G4|Q969V9	Silent	SNP	ENST00000376499.3	37	c.1920C>A	CCDS6661.1																																																																																				0.597	TLE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055407.1	NM_005077		3	32	1	0	1	1	1	3	32					T	84202653	G	T	84202653	2	4	432	1	0	0	0	0	0	0	0	1	15935	1277	45	5		5	TLE1	9	84202653	Silent	SNP	G	TCGA-XJ-A9DX-01A-11D-A377-08	49493150	84202653	57010778	39	20792											
KIAA0368	23392	broad.mit.edu	37	chr9	114206739	114206739	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgtattttggggcggcttttTatacgtttattcagatggac	7	18	11	5	2	1	1	1	0	0	1	1	2	1	2	0	4	1	3	0	4	4	10			TCGA-XJ-A9DX-01A-11D-A377-08	TCGA-XJ-A9DX-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	955a0861-eff0-463b-908c-a108ddb4b971	c23cbbc8-b66c-4e06-8c99-00590b5ece18	g.chr9:114206739T>C	ENST00000338205.5	-	3	408	c.189A>G	c.(187-189)atA>atG	p.I63M	KIAA0368_ENST00000259335.4_Missense_Mutation_p.I241M			Q5VYK3	ECM29_HUMAN	KIAA0368	69					ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)	centrosome (GO:0005813)|cytoplasmic membrane-bounded vesicle (GO:0016023)|early endosome (GO:0005769)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle (GO:0030134)|late endosome (GO:0005770)|membrane (GO:0016020)|multivesicular body (GO:0005771)|nucleus (GO:0005634)|proteasome complex (GO:0000502)				NS(2)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(23)|prostate(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	65						GGCGGCTTTTTATACGTTTAT	0.388																																						ENST00000259335.4																			0				NS(2)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(23)|prostate(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	65						c.(721-723)atA>atG		KIAA0368							121	115	117					9																	114206739		1810	4072	5882	SO:0001583	missense	23392							g.chr9:114206739T>C	AK025689	CCDS48006.1	9q32	2012-11-29	2006-11-23	2006-11-23	ENSG00000136813	ENSG00000136813			29020	protein-coding gene	gene with protein product	"ECM29 homolog (S. cerevisiae)"					9205841, 15496406, 20682791	Standard	NM_001080398		Approved	FLJ22036, ECM29	uc004bfe.1	Q5VYK3	OTTHUMG00000020489	ENST00000338205.5:c.189A>G	9.37:g.114206739T>C	ENSP00000339889:p.Ile63Met					KIAA0368_ENST00000338205.5_Missense_Mutation_p.I63M	p.I241M	NM_001080398.1	NP_001073867.1					5	722	-								O15074|Q8WU82	Missense_Mutation	SNP	ENST00000338205.5	37	c.723A>G		.	.	.	.	.	.	.	.	.	.	T	18.51	3.640681	0.67244	.	.	ENSG00000136813	ENST00000338205;ENST00000259335	T	0.54675	0.56	5.41	5.41	0.78517	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.61211	0.2329	L	0.43152	1.355	0.80722	D	1	D	0.62365	0.991	D	0.73380	0.98	T	0.64236	-0.6455	10	0.72032	D	0.01	.	7.7943	0.29138	0.1213:0.0:0.2053:0.6735	.	69	Q5VYK3	ECM29_HUMAN	M	63;241	ENSP00000259335:I241M	ENSP00000259335:I241M	I	-	3	3	KIAA0368	113246560	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	0.686000	0.25392	2.056000	0.61249	0.377000	0.23210	ATA		0.388	KIAA0368-001	NOVEL	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000053637.2	NM_014686		9	17	0	0	0	1	0	9	17					C	114206739	T	C	114206739	3	2	432	1	0	0	0	0	1	0	0	0	8171	1744	61	4	5518	4	KIAA0368	9	114206739	Missense_Mutation	SNP	T	TCGA-XJ-A9DX-01A-11D-A377-08	30004086	114206739	27006692	40	20793											
RABGAP1	23637	broad.mit.edu	37	chr9	125865401	125865402	+	Frame_Shift_Ins	INS	-	-	T																															catttagggcttgccctcaaINStgaggtgcaggcagccaaga																								rs371711354		TCGA-XJ-A9DX-01A-11D-A377-08	TCGA-XJ-A9DX-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	955a0861-eff0-463b-908c-a108ddb4b971	c23cbbc8-b66c-4e06-8c99-00590b5ece18	g.chr9:125865401_125865402insT	ENST00000373647.4	+	26	3253_3254	c.3119_3120insT	c.(3118-3123)aatgagfs	p.E1041fs	RABGAP1_ENST00000373643.5_Frame_Shift_Ins_p.E380fs	NM_012197.3	NP_036329.3	Q9Y3P9	RBGP1_HUMAN	RAB GTPase activating protein 1	1041					cell cycle (GO:0007049)|positive regulation of GTPase activity (GO:0043547)|regulation of GTP catabolic process (GO:0033124)	centrosome (GO:0005813)|cytosol (GO:0005829)|microtubule associated complex (GO:0005875)	DNA binding (GO:0003677)|GTPase activator activity (GO:0005096)|Rab GTPase activator activity (GO:0005097)|Rab GTPase binding (GO:0017137)|tubulin binding (GO:0015631)			breast(3)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|prostate(4)|stomach(3)|upper_aerodigestive_tract(1)	41						CTTGCCCTCAATGAGGTGCAGG	0.535											OREG0019466	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000373647.4																			0				breast(3)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|prostate(4)|stomach(3)|upper_aerodigestive_tract(1)	41						c.(3118-3120)agafs		RAB GTPase activating protein 1																																				SO:0001589	frameshift_variant	23637				cell cycle	centrosome|cytosol|microtubule associated complex	Rab GTPase activator activity|tubulin binding	g.chr9:125865401_125865402insT	AJ011679	CCDS6848.2	9q34.11	2013-07-09			ENSG00000011454	ENSG00000011454			17155	protein-coding gene	gene with protein product	"rab6 GTPase activating protein (GAP and centrosome-associated)", "TBC1 domain family, member 11"	615882				10202141	Standard	NM_012197		Approved	GAPCenA, TBC1D11	uc011lzh.2	Q9Y3P9	OTTHUMG00000020633	ENST00000373647.4:c.3120dupT	9.37:g.125865402_125865402dupT	ENSP00000362751:p.Glu1041fs		OREG0019466	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1545	RABGAP1_ENST00000373643.5_Frame_Shift_Ins_p.R379fs	p.R1040fs	NM_012197.3	NP_036329.3	Q9Y3P9	RBGP1_HUMAN			26	3253_3254	+			1040					B9A6L2|Q05CW2|Q6ZMY1|Q9HA28|Q9P0E2|Q9UG67	Frame_Shift_Ins	INS	ENST00000373647.4	37	c.3119_3120insT	CCDS6848.2																																																																																				0.535	RABGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053976.3	NM_012197		24	22						24	22	---	---	---	---	T	125865402	-	T	125865401	7	5	432	1	0	1	1	0	0	0	0	0	12964	101	4	0	3217	0	RABGAP1	9	125865401	Frame_Shift_Ins	INS	-	TCGA-XJ-A9DX-01A-11D-A377-08	11658662	125865401	15348030	41	20794											
CRB2	286204	broad.mit.edu	37	chr9	126134526	126134526	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccactgtacctgccctgccaAtttcacggggcctacgtgtg	6	10	10	15	2	1	0	1	0	0	0	1	0	1	0	5	2	4	1	5	2	3	3			TCGA-XJ-A9DX-01A-11D-A377-08	TCGA-XJ-A9DX-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	955a0861-eff0-463b-908c-a108ddb4b971	c23cbbc8-b66c-4e06-8c99-00590b5ece18	g.chr9:126134526A>C	ENST00000373631.3	+	9	2508	c.2507A>C	c.(2506-2508)aAt>aCt	p.N836T	CRB2_ENST00000373629.2_Missense_Mutation_p.N504T|CRB2_ENST00000359999.3_Missense_Mutation_p.N836T	NM_173689.5	NP_775960.4	Q5IJ48	CRUM2_HUMAN	crumbs family member 2	836	EGF-like 11. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cardiovascular system development (GO:0072358)|maintenance of epithelial cell apical/basal polarity (GO:0045199)|mesoderm formation (GO:0001707)|negative regulation of endopeptidase activity (GO:0010951)|notochord formation (GO:0014028)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|somitogenesis (GO:0001756)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	calcium ion binding (GO:0005509)|enzyme binding (GO:0019899)			NS(2)|breast(1)|cervix(1)|endometrium(2)|lung(11)|ovary(1)|prostate(2)|skin(3)	23						TGCCCTGCCAATTTCACGGGG	0.622																																						ENST00000373631.3																			0				NS(2)|breast(1)|cervix(1)|endometrium(2)|lung(11)|ovary(1)|prostate(2)|skin(3)	23						c.(2506-2508)aAt>aCt		crumbs homolog 2 (Drosophila)							138	103	115					9																	126134526		2203	4300	6503	SO:0001583	missense	286204					extracellular region|integral to membrane|plasma membrane	calcium ion binding	g.chr9:126134526A>C	AK095783	CCDS6852.2	9q33.2	2014-02-06	2014-02-06		ENSG00000148204	ENSG00000148204			18688	protein-coding gene	gene with protein product		609720	"crumbs homolog 2 (Drosophila)"			14767562	Standard	XM_005251934		Approved	FLJ38464, FLJ16786	uc004bnx.1	Q5IJ48	OTTHUMG00000020638	ENST00000373631.3:c.2507A>C	9.37:g.126134526A>C	ENSP00000362734:p.Asn836Thr					CRB2_ENST00000373629.2_Missense_Mutation_p.N504T|CRB2_ENST00000359999.3_Missense_Mutation_p.N836T	p.N836T	NM_173689.5	NP_775960.4	Q5IJ48	CRUM2_HUMAN			9	2508	+			836			EGF-like 11.		A2A3N4|Q0QD46|Q5JS41|Q5JS43|Q6ZTA9|Q6ZWI6	Missense_Mutation	SNP	ENST00000373631.3	37	c.2507A>C	CCDS6852.2	.	.	.	.	.	.	.	.	.	.	.	21.9	4.221218	0.79464	.	.	ENSG00000148204	ENST00000359999;ENST00000373631;ENST00000373629	D;D;D	0.92249	-3.0;-3.0;-3.0	5.41	4.28	0.50868	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);EGF (1);Epidermal growth factor-like (1);EGF-like region, conserved site (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.49305	D	0.000142	D	0.92737	0.7691	L	0.42744	1.35	0.42411	D	0.992606	D;D	0.76494	0.993;0.999	D;D	0.64776	0.909;0.929	D	0.92796	0.6252	10	0.66056	D	0.02	.	9.9635	0.41710	0.9208:0.0:0.0792:0.0	.	836;836	Q5IJ48;Q5IJ48-2	CRUM2_HUMAN;.	T	836;836;504	ENSP00000353092:N836T;ENSP00000362734:N836T;ENSP00000362732:N504T	ENSP00000353092:N836T	N	+	2	0	CRB2	125174347	0.996000	0.38824	1.000000	0.80357	0.989000	0.77384	5.928000	0.70088	2.047000	0.60756	0.459000	0.35465	AAT		0.622	CRB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053990.3	NM_173689		8	46	0	0	0	1	0	8	46					C	126134526	A	C	126134526	3	2	432	1	0	0	0	0	1	0	0	0	3849	101	4	5	2541	5	CRB2	9	126134526	Missense_Mutation	SNP	A	TCGA-XJ-A9DX-01A-11D-A377-08	269125	126134526	15078905	42	20795											
C10orf18	54906	broad.mit.edu	37	chr10	5789870	5789870	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gaacaggtagaccaacccttCctggtaaagtaactgaggaa	15	7	10	9	0	0	2	0	1	0	1	1	4	1	3	3	3	3	3	3	3	7	4			TCGA-XJ-A9DX-01A-11D-A377-08	TCGA-XJ-A9DX-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	955a0861-eff0-463b-908c-a108ddb4b971	c23cbbc8-b66c-4e06-8c99-00590b5ece18	g.chr10:5789870C>T	ENST00000328090.5	+	15	5111	c.4486C>T	c.(4486-4488)Cct>Tct	p.P1496S		NM_017782.4	NP_060252	Q5VWN6	F208B_HUMAN	family with sequence similarity 208, member B	1496																	ACCAACCCTTCCTGGTAAAGT	0.453																																						ENST00000328090.5																			0											c.(4486-4488)Cct>Tct		family with sequence similarity 208, member B							52	51	51					10																	5789870		1903	4115	6018	SO:0001583	missense	54906							g.chr10:5789870C>T	BX649177	CCDS41485.1	10p15.1	2011-09-14	2011-09-14	2011-09-14	ENSG00000108021	ENSG00000108021			23484	protein-coding gene	gene with protein product			"chromosome 10 open reading frame 18"	C10orf18		12477932	Standard	NM_017782		Approved	FLJ20360, bA318E3.2, KIAA2006	uc001iij.3	Q5VWN6	OTTHUMG00000017605	ENST00000328090.5:c.4486C>T	10.37:g.5789870C>T	ENSP00000328426:p.Pro1496Ser						p.P1496S	NM_017782.4	NP_060252.4	Q5VWN6	CJ018_HUMAN			15	5111	+			1496					Q2YD91|Q5VWN5|Q6ZRQ8|Q8IVG4|Q9BUZ7|Q9H5J9|Q9H7A4|Q9H996|Q9NXA1	Missense_Mutation	SNP	ENST00000328090.5	37	c.4486C>T	CCDS41485.1	.	.	.	.	.	.	.	.	.	.	C	2.783	-0.252958	0.05829	.	.	ENSG00000108021	ENST00000328090;ENST00000442808	T	0.04406	3.63	5.39	2.47	0.30058	.	0.610418	0.15561	N	0.255911	T	0.03608	0.0103	L	0.34521	1.04	0.09310	N	1	B	0.30584	0.286	B	0.21546	0.035	T	0.42068	-0.9473	10	0.46703	T	0.11	.	4.8307	0.13439	0.1699:0.6502:0.0:0.1799	.	1496	Q5VWN6	F208B_HUMAN	S	1496;691	ENSP00000328426:P1496S	ENSP00000328426:P1496S	P	+	1	0	C10orf18	5829876	0.001000	0.12720	0.000000	0.03702	0.087000	0.18053	0.857000	0.27831	0.236000	0.21180	0.655000	0.94253	CCT		0.453	FAM208B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046571.2	NM_017782		17	50	0	0	0	1	0	17	50					T	5789870	C	T	5789870	3	4	432	1	0	0	0	0	1	0	0	0	1596	855	30	3	4532	3	C10orf18	10	5789870	Missense_Mutation	SNP	C	TCGA-XJ-A9DX-01A-11D-A377-08		5789870	129744877	43	20796											
PRPF18	8559	broad.mit.edu	37	chr10	13658529	13658529	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttgcacatgttttaaatgaCgaaactcagcggaaatatat	15	12	8	6	2	1	1	1	1	0	0	1	3	1	2	0	1	3	3	0	1	6	5			TCGA-XJ-A9DX-01A-11D-A377-08	TCGA-XJ-A9DX-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	955a0861-eff0-463b-908c-a108ddb4b971	c23cbbc8-b66c-4e06-8c99-00590b5ece18	g.chr10:13658529C>T	ENST00000378572.3	+	9	1084	c.924C>T	c.(922-924)gaC>gaT	p.D308D		NM_003675.3	NP_003666.1	Q99633	PRP18_HUMAN	pre-mRNA processing factor 18	308					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	potassium channel inhibitor activity (GO:0019870)			central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(5)|prostate(1)	17						TTTTAAATGACGAAACTCAGC	0.438																																						ENST00000378572.3																			0				central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(5)|prostate(1)	17						c.(922-924)gaC>gaT		pre-mRNA processing factor 18							100	97	98					10																	13658529		2203	4300	6503	SO:0001819	synonymous_variant	8559				mRNA processing|RNA splicing	nuclear speck|spliceosomal complex		g.chr10:13658529C>T	U51990	CCDS7100.1	10p12.33	2013-06-10	2013-06-10		ENSG00000165630	ENSG00000165630			17351	protein-coding gene	gene with protein product		604993	"PRP18 pre-mRNA processing factor 18 homolog (yeast)", "PRP18 pre-mRNA processing factor 18 homolog (S. cerevisiae)"			9000057	Standard	XM_005252634		Approved	hPrp18	uc001imp.3	Q99633	OTTHUMG00000017702	ENST00000378572.3:c.924C>T	10.37:g.13658529C>T							p.D308D	NM_003675.3	NP_003666.1	Q99633	PRP18_HUMAN			9	1084	+			308					Q5T9P9|Q9BUI9	Silent	SNP	ENST00000378572.3	37	c.924C>T	CCDS7100.1																																																																																				0.438	PRPF18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046879.1			14	34	0	0	0	1	0	14	34					T	13658529	C	T	13658529	2	4	432	1	0	0	0	0	0	0	0	1	12563	535	19	1		1	PRPF18	10	13658529	Silent	SNP	C	TCGA-XJ-A9DX-01A-11D-A377-08	7868659	13658529	121876218	44	20797											
PDSS1	23590	broad.mit.edu	37	chr10	26993670	26993670	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaatgtatgtcgtatatcacGgtaagtttacagtccatact	13	14	7	7	2	1	0	1	0	0	0	3	0	2	0	1	1	2	4	1	1	7	7			TCGA-XJ-A9DX-01A-11D-A377-08	TCGA-XJ-A9DX-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	955a0861-eff0-463b-908c-a108ddb4b971	c23cbbc8-b66c-4e06-8c99-00590b5ece18	g.chr10:26993670G>A	ENST00000376215.5	+	3	280	c.227G>A	c.(226-228)cGg>cAg	p.R76Q	PDSS1_ENST00000376203.5_Splice_Site_p.R76Q	NM_014317.3	NP_055132.2	Q5T2R2	DPS1_HUMAN	prenyl (decaprenyl) diphosphate synthase, subunit 1	76				R -> Q (in Ref. 1; AAD28559). {ECO:0000305}.	isoprenoid biosynthetic process (GO:0008299)|protein heterotetramerization (GO:0051290)|small molecule metabolic process (GO:0044281)|ubiquinone biosynthetic process (GO:0006744)	mitochondrial matrix (GO:0005759)	metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|trans-hexaprenyltranstransferase activity (GO:0000010)|trans-octaprenyltranstransferase activity (GO:0050347)	p.R76L(1)		autonomic_ganglia(1)|endometrium(1)|kidney(7)|large_intestine(6)|lung(5)|prostate(1)	21						CGTATATCACGGTAAGTTTAC	0.294																																						ENST00000376215.5																			1	Substitution - Missense(1)	p.R76L(1)	lung(1)	autonomic_ganglia(1)|endometrium(1)|kidney(7)|large_intestine(6)|lung(5)|prostate(1)	21						c.e3+1		prenyl (decaprenyl) diphosphate synthase, subunit 1							84	88	87					10																	26993670		2202	4299	6501	SO:0001630	splice_region_variant	23590				isoprenoid biosynthetic process|ubiquinone biosynthetic process	mitochondrion	metal ion binding|protein heterodimerization activity	g.chr10:26993670G>A	AF118395	CCDS31168.1	10p12.2	2006-04-12	2006-02-14	2006-02-14	ENSG00000148459	ENSG00000148459			17759	protein-coding gene	gene with protein product	"coenzyme Q1 homolog (yeast)"	607429	"trans-prenyltransferase"	TPRT		10972372	Standard	NM_014317		Approved	TPT, COQ1	uc001isv.3	Q5T2R2	OTTHUMG00000017844	ENST00000376215.5:c.227+1G>A	10.37:g.26993670G>A						PDSS1_ENST00000376203.5_Splice_Site_p.R76_splice	p.R76_splice	NM_014317.3	NP_055132.2	Q5T2R2	DPS1_HUMAN			3	280	+			76	R -> Q (in Ref. 1; AAD28559).				Q53F75|Q6P473|Q86WQ8|Q9Y2W5	Splice_Site	SNP	ENST00000376215.5	37	c.227_splice	CCDS31168.1	.	.	.	.	.	.	.	.	.	.	G	9.208	1.030084	0.19512	.	.	ENSG00000148459	ENST00000376215;ENST00000376203;ENST00000396343	D	0.82803	-1.65	4.25	2.13	0.27403	.	0.193910	0.39985	N	0.001205	T	0.70098	0.3185	L	0.35854	1.095	0.26485	N	0.975041	B;B	0.24132	0.098;0.014	B;B	0.18263	0.021;0.001	T	0.55231	-0.8173	10	0.28530	T	0.3	-18.0439	6.2913	0.21061	0.2594:0.0:0.7406:0.0	.	76;76	Q5T2R2-2;Q5T2R2	.;DPS1_HUMAN	Q	76;76;37	ENSP00000365388:R76Q	ENSP00000365376:R76Q	R	+	2	0	PDSS1	27033676	1.000000	0.71417	0.997000	0.53966	0.437000	0.31866	1.787000	0.38704	0.298000	0.22638	0.591000	0.81541	CGG		0.294	PDSS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047276.1		Missense_Mutation	27	44	0	0	0	1	0	27	44					A	26993670	G	A	26993670	5	1	432	1	0	0	0	0	0	0	1	0	11693	1130	39	2	237	2	PDSS1	10	26993670	Splice_Site	SNP	G	TCGA-XJ-A9DX-01A-11D-A377-08	13335141	26993670	108541077	45	20798											
HELLS	3070	broad.mit.edu	37	chr10	96331150	96331150	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttctcaaactactaggaaatTttgtctgtggctaaaaaaaa	16	13	6	6	0	2	0	1	0	2	0	3	1	2	1	0	2	2	1	0	2	8	6			TCGA-XJ-A9DX-01A-11D-A377-08	TCGA-XJ-A9DX-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	955a0861-eff0-463b-908c-a108ddb4b971	c23cbbc8-b66c-4e06-8c99-00590b5ece18	g.chr10:96331150T>G	ENST00000348459.5	+	7	546	c.441T>G	c.(439-441)atT>atG	p.I147M	HELLS_ENST00000394036.1_Missense_Mutation_p.F126V|HELLS_ENST00000371332.4_Missense_Mutation_p.I147M|HELLS_ENST00000394045.1_Missense_Mutation_p.I147M|HELLS_ENST00000394044.1_Missense_Mutation_p.I147M|HELLS_ENST00000239026.6_3'UTR	NM_018063.3	NP_060533.2			helicase, lymphoid-specific											endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22		Colorectal(252;0.0429)		all cancers(201;2.13e-05)		ACTAGGAAATTTTGTCTGTGG	0.269																																						ENST00000348459.5																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22						c.(439-441)atT>atG		helicase, lymphoid-specific							35	40	38					10																	96331150		2145	4256	6401	SO:0001583	missense	3070				cell division|centromeric heterochromatin formation|lymphocyte proliferation|maintenance of DNA methylation|methylation-dependent chromatin silencing|mitosis|transcription, DNA-dependent	centromeric heterochromatin|nucleus	ATP binding|DNA binding|helicase activity	g.chr10:96331150T>G	AF155827	CCDS7434.1, CCDS73162.1, CCDS73163.1, CCDS73164.1, CCDS73165.1	10q24.2	2008-08-01			ENSG00000119969	ENSG00000119969			4861	protein-coding gene	gene with protein product	"SWI/SNF2-related, matrix-associated, actin-dependent regulator of chromatin, subfamily A, member 6", "proliferation-associated SNF2-like protein"	603946				9878251, 10910076	Standard	NM_018063		Approved	PASG, SMARCA6, LSH, Nbla10143	uc001kjt.3	Q9NRZ9	OTTHUMG00000018793	ENST00000348459.5:c.441T>G	10.37:g.96331150T>G	ENSP00000239027:p.Ile147Met					HELLS_ENST00000371332.4_Missense_Mutation_p.I147M|HELLS_ENST00000394045.1_Missense_Mutation_p.I147M|HELLS_ENST00000394036.1_Missense_Mutation_p.F126V|HELLS_ENST00000394044.1_Missense_Mutation_p.I147M|HELLS_ENST00000239026.6_3'UTR	p.I147M	NM_018063.3	NP_060533.2	Q9NRZ9	HELLS_HUMAN		all cancers(201;2.13e-05)	7	546	+		Colorectal(252;0.0429)	147						Missense_Mutation	SNP	ENST00000348459.5	37	c.441T>G	CCDS7434.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	15.17|15.17	2.753620|2.753620	0.49362|0.49362	.|.	.|.	ENSG00000119969|ENSG00000119969	ENST00000394036|ENST00000419900;ENST00000348459;ENST00000394045;ENST00000394044;ENST00000371332	.|T;T;D;T	.|0.95788	.|0.52;0.52;-3.81;0.52	4.92|4.92	3.76|3.76	0.43208|0.43208	.|.	.|0.101249	.|0.64402	.|D	.|0.000003	D|D	0.93693|0.93693	0.7985|0.7985	L|L	0.32530|0.32530	0.975|0.975	0.80722|0.80722	D|D	1|1	.|P;P;P;D;P	.|0.58620	.|0.809;0.918;0.556;0.983;0.846	.|P;P;B;P;P	.|0.56823	.|0.672;0.472;0.195;0.807;0.472	D|D	0.91572|0.91572	0.5272|0.5272	6|10	0.09084|0.52906	T|T	0.74|0.07	-12.931|-12.931	5.7063|5.7063	0.17911|0.17911	0.1521:0.0843:0.0:0.7636|0.1521:0.0843:0.0:0.7636	.|.	.|131;147;147;147;147	.|Q9NRZ9-2;Q6I7N8;Q9NRZ9-6;Q9NRZ9-5;Q9NRZ9	.|.;.;.;.;HELLS_HUMAN	V|M	126|131;147;147;147;147	.|ENSP00000239027:I147M;ENSP00000377609:I147M;ENSP00000377608:I147M;ENSP00000360383:I147M	ENSP00000377601:F126V|ENSP00000239027:I147M	F|I	+|+	1|3	0|3	HELLS|HELLS	96321140|96321140	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.929000|0.929000	0.56500|0.56500	0.320000|0.320000	0.19540|0.19540	0.798000|0.798000	0.33994|0.33994	0.533000|0.533000	0.62120|0.62120	TTT|ATT		0.269	HELLS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049475.1	NM_018063		5	22	0	0	0	1	0	5	22					G	96331150	T	G	96331150	3	3	432	1	0	0	0	0	1	0	0	0	7046	1829	64	5	467	5	HELLS	10	96331150	Missense_Mutation	SNP	T	TCGA-XJ-A9DX-01A-11D-A377-08	69337480	96331150	39203597	46	20799											
SORCS3	22986	broad.mit.edu	37	chr10	106974307	106974307	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcggggcctccatgtggtgaCgaccgatgggcggctggtgg	4	8	19	10	4	0	1	0	1	0	0	2	3	1	1	3	7	0	1	3	7	0	0	rs201415126		TCGA-XJ-A9DX-01A-11D-A377-08	TCGA-XJ-A9DX-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	955a0861-eff0-463b-908c-a108ddb4b971	c23cbbc8-b66c-4e06-8c99-00590b5ece18	g.chr10:106974307C>T	ENST00000369701.3	+	18	2710	c.2483C>T	c.(2482-2484)aCg>aTg	p.T828M	SORCS3_ENST00000369699.4_Missense_Mutation_p.T114M	NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	828	PKD. {ECO:0000255|PROSITE- ProRule:PRU00151}.				learning (GO:0007612)|memory (GO:0007613)|neuropeptide signaling pathway (GO:0007218)|regulation of long term synaptic depression (GO:1900452)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|neuronal postsynaptic density (GO:0097481)	neuropeptide receptor activity (GO:0008188)	p.T828M(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		CATGTGGTGACGACCGATGGG	0.587																																					NSCLC(116;1497 1690 7108 13108 14106)	ENST00000369701.3																			1	Substitution - Missense(1)	p.T828M(1)	large_intestine(1)	autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131						c.(2482-2484)aCg>aTg		sortilin-related VPS10 domain containing receptor 3			MET/THR	0,4406		0,0,2203	58	53	55		2483	5	0.9	10		55	1,8599	1.2+/-3.3	0,1,4299	no	missense	SORCS3	NM_014978.1	81	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	828/1223	106974307	1,13005	2203	4300	6503	SO:0001583	missense	22986					integral to membrane	neuropeptide receptor activity	g.chr10:106974307C>T	AB028982	CCDS7558.1	10q23-q25	2006-04-12			ENSG00000156395	ENSG00000156395			16699	protein-coding gene	gene with protein product		606285				11499680	Standard	NM_014978		Approved	KIAA1059, SORCS	uc001kyi.1	Q9UPU3	OTTHUMG00000019011	ENST00000369701.3:c.2483C>T	10.37:g.106974307C>T	ENSP00000358715:p.Thr828Met					SORCS3_ENST00000369699.4_Missense_Mutation_p.T114M	p.T828M	NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)	18	2710	+		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)	828			PKD.		Q5VXF9|Q9NQJ2	Missense_Mutation	SNP	ENST00000369701.3	37	c.2483C>T	CCDS7558.1	.	.	.	.	.	.	.	.	.	.	c	19.42	3.823419	0.71143	0.0	1.16E-4	ENSG00000156395	ENST00000369701;ENST00000369699	T;T	0.69561	-0.41;-0.41	5.89	4.99	0.66335	PKD domain (1);	0.000000	0.85682	D	0.000000	T	0.79179	0.4402	M	0.62723	1.935	0.49915	D	0.999836	D	0.89917	1.0	D	0.87578	0.998	T	0.79179	-0.1910	9	.	.	.	.	15.1529	0.72717	0.0:0.9324:0.0:0.0676	.	828	Q9UPU3	SORC3_HUMAN	M	828;114	ENSP00000358715:T828M;ENSP00000358713:T114M	.	T	+	2	0	SORCS3	106964297	1.000000	0.71417	0.900000	0.35374	0.992000	0.81027	5.768000	0.68858	1.500000	0.48636	0.558000	0.71614	ACG		0.587	SORCS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050221.1	NM_014978		3	26	0	0	0	1	0	3	26					T	106974307	C	T	106974307	3	4	432	1	0	0	0	0	1	0	0	0	14932	536	19	1	2553	1	SORCS3	10	106974307	Missense_Mutation	SNP	C	TCGA-XJ-A9DX-01A-11D-A377-08	10643157	106974307	28560440	47	20800											
IGF2	3481	broad.mit.edu	37	chr11	2154249	2154249	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctggccatctctgggggggCgcccccgtgggcggggtctt	1	8	19	13	3	2	0	0	0	2	0	3	0	2	0	3	7	0	1	3	7	0	1			TCGA-XJ-A9DX-01A-11D-A377-08	TCGA-XJ-A9DX-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	955a0861-eff0-463b-908c-a108ddb4b971	c23cbbc8-b66c-4e06-8c99-00590b5ece18	g.chr11:2154249C>T	ENST00000416167.2	-	4	1677	c.511G>A	c.(511-513)Gcc>Acc	p.A171T	IGF2_ENST00000381406.4_Missense_Mutation_p.A174T|IGF2_ENST00000381392.1_Missense_Mutation_p.A174T|IGF2_ENST00000418738.2_Missense_Mutation_p.A171T|IGF2_ENST00000300632.5_Missense_Mutation_p.A171T|IGF2_ENST00000434045.2_Missense_Mutation_p.A227T|IGF2_ENST00000381389.1_Missense_Mutation_p.A171T|IGF2_ENST00000381395.1_Missense_Mutation_p.A171T|MIR483_ENST00000385070.1_RNA			P01344	IGF2_HUMAN	insulin-like growth factor 2	171					blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|cellular response to mechanical stimulus (GO:0071260)|exocrine pancreas development (GO:0031017)|female pregnancy (GO:0007565)|glucose metabolic process (GO:0006006)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|memory (GO:0007613)|multicellular organismal development (GO:0007275)|organ morphogenesis (GO:0009887)|osteoblast differentiation (GO:0001649)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of catalytic activity (GO:0043085)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of glycogen (starch) synthase activity (GO:2000467)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of insulin receptor signaling pathway (GO:0046628)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mitosis (GO:0045840)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of steroid hormone biosynthetic process (GO:0090031)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of transcription, DNA-templated (GO:0006355)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to nicotine (GO:0035094)|response to nutrient levels (GO:0031667)|response to radiation (GO:0009314)|skeletal system development (GO:0001501)|striated muscle cell differentiation (GO:0051146)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	growth factor activity (GO:0008083)|insulin receptor binding (GO:0005158)|insulin-like growth factor receptor binding (GO:0005159)|protein serine/threonine kinase activator activity (GO:0043539)|receptor activator activity (GO:0030546)			central_nervous_system(1)|kidney(1)|lung(1)|pancreas(1)|skin(1)|urinary_tract(1)	6		all_epithelial(84;5.04e-06)|Breast(177;0.000777)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)|all_lung(207;0.24)	Colorectal(5;0.0179)|COAD - Colon adenocarcinoma(6;0.029)	BRCA - Breast invasive adenocarcinoma(625;1.09e-05)|LUSC - Lung squamous cell carcinoma(625;0.082)|Lung(200;0.153)		TCTGGGGGGGCGCCCCCGTGG	0.667																																						ENST00000416167.2																			0				central_nervous_system(1)|kidney(1)|lung(1)|pancreas(1)|skin(1)|urinary_tract(1)	6						c.(511-513)Gcc>Acc		insulin-like growth factor 2 (somatomedin A)							52	68	62					11																	2154249		2201	4297	6498	SO:0001583	missense	3481				glucose metabolic process|ossification|phosphatidylinositol 3-kinase cascade involved in insulin receptor signaling|positive regulation of activated T cell proliferation|positive regulation of cell division|positive regulation of glycogen (starch) synthase activity|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of MAPKKK cascade|positive regulation of mitosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein kinase B signaling cascade|regulation of gene expression by genetic imprinting|regulation of transcription, DNA-dependent|skeletal system development	extracellular space	growth factor activity|hormone activity|insulin receptor binding|insulin-like growth factor receptor binding|protein serine/threonine kinase activator activity|receptor activator activity	g.chr11:2154249C>T	M29645, AK025719	CCDS7728.1, CCDS44517.1	11p15.5	2014-09-16	2014-09-16		ENSG00000167244	ENSG00000167244			5466	protein-coding gene	gene with protein product	"somatomedin A"	147470	"chromosome 11 open reading frame 43"	C11orf43		2450353, 3167054	Standard	NM_000612		Approved	FLJ44734, IGF-II	uc009ydf.3	P01344	OTTHUMG00000009395	ENST00000416167.2:c.511G>A	11.37:g.2154249C>T	ENSP00000414497:p.Ala171Thr					IGF2_ENST00000337883.6_Missense_Mutation_p.A171T|IGF2_ENST00000418738.2_Missense_Mutation_p.A171T|IGF2_ENST00000381395.1_Missense_Mutation_p.A171T|IGF2_ENST00000434045.2_Missense_Mutation_p.A227T|IGF2_ENST00000381392.1_Missense_Mutation_p.A174T|IGF2_ENST00000381406.4_Missense_Mutation_p.A174T|IGF2_ENST00000300632.5_Missense_Mutation_p.A171T|IGF2_ENST00000381389.1_Missense_Mutation_p.A171T	p.A171T			P01344	IGF2_HUMAN	Colorectal(5;0.0179)|COAD - Colon adenocarcinoma(6;0.029)	BRCA - Breast invasive adenocarcinoma(625;1.09e-05)|LUSC - Lung squamous cell carcinoma(625;0.082)|Lung(200;0.153)	4	1677	-		all_epithelial(84;5.04e-06)|Breast(177;0.000777)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)|all_lung(207;0.24)	171					B3KX48|B7WP08|C9JAF2|E3UN45|P78449|Q14299|Q1WM26|Q9UC68|Q9UC69	Missense_Mutation	SNP	ENST00000416167.2	37	c.511G>A	CCDS7728.1	.	.	.	.	.	.	.	.	.	.	C	11.61	1.688590	0.29962	.	.	ENSG00000167244	ENST00000381395;ENST00000381406;ENST00000416167;ENST00000300632;ENST00000381319;ENST00000434045;ENST00000381392;ENST00000381389;ENST00000418738;ENST00000337883;ENST00000381379	D;D;D;D;D;D;D;D;D	0.94280	-3.3;-3.27;-3.3;-3.3;-3.39;-3.27;-3.3;-3.3;-3.3	3.06	-3.35	0.04928	Insulin-like growth factor II E-peptide, C-terminal (1);	0.574647	0.16674	N	0.204242	D	0.82314	0.5010	L	0.28458	0.855	0.19945	N	0.999941	B;B	0.19073	0.015;0.033	B;B	0.10450	0.005;0.005	T	0.68349	-0.5432	10	0.21540	T	0.41	.	0.6949	0.00897	0.1617:0.3153:0.1783:0.3447	.	227;171	C9JAF2;P01344	.;IGF2_HUMAN	T	171;174;171;171;174;227;174;171;171;171;174	ENSP00000370802:A171T;ENSP00000370813:A174T;ENSP00000414497:A171T;ENSP00000300632:A171T;ENSP00000391826:A227T;ENSP00000370799:A174T;ENSP00000370796:A171T;ENSP00000402047:A171T;ENSP00000338297:A171T	ENSP00000300632:A171T	A	-	1	0	IGF2	2110825	0.040000	0.19996	0.000000	0.03702	0.014000	0.08584	0.303000	0.19210	-0.923000	0.03785	-1.449000	0.01048	GCC		0.667	IGF2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000026053.2	NM_000612		33	60	0	0	0	1	0	33	60					T	2154249	C	T	2154249	3	4	432	1	0	0	0	0	1	0	0	0	7572	768	27	1	35	1	IGF2	11	2154249	Missense_Mutation	SNP	C	TCGA-XJ-A9DX-01A-11D-A377-08		2154249	132852267	48	20801											
UBQLN3	50613	broad.mit.edu	37	chr11	5530165	5530165	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tccgggttgttaagaatatgCccaatctcagggttgtgctg	8	13	12	8	1	1	1	1	0	1	1	3	1	2	1	2	2	2	4	2	2	4	4			TCGA-XJ-A9DX-01A-11D-A377-08	TCGA-XJ-A9DX-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	955a0861-eff0-463b-908c-a108ddb4b971	c23cbbc8-b66c-4e06-8c99-00590b5ece18	g.chr11:5530165C>T	ENST00000311659.4	-	2	771	c.624G>A	c.(622-624)ggG>ggA	p.G208G	HBG2_ENST00000380259.2_Intron	NM_017481.2	NP_059509.1	Q9H347	UBQL3_HUMAN	ubiquilin 3	208										NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|prostate(1)|skin(2)	39		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TAAGAATATGCCCAATCTCAG	0.532																																					Ovarian(72;684 1260 12332 41642 52180)	ENST00000311659.4																			0				NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|prostate(1)|skin(2)	39						c.(622-624)ggG>ggA		ubiquilin 3							106	105	105					11																	5530165		2201	4297	6498	SO:0001819	synonymous_variant	50613							g.chr11:5530165C>T	AF230481	CCDS7758.1	11p15	2013-02-12			ENSG00000175520	ENSG00000175520		"Ubiquilin family"	12510	protein-coding gene	gene with protein product		605473				10831842	Standard	NM_017481		Approved	TUP-1	uc001may.1	Q9H347	OTTHUMG00000066886	ENST00000311659.4:c.624G>A	11.37:g.5530165C>T						HBG2_ENST00000380259.2_Intron	p.G208G	NM_017481.2	NP_059509.1	Q9H347	UBQL3_HUMAN		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	2	771	-		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)	208					Q9NRE0	Silent	SNP	ENST00000311659.4	37	c.624G>A	CCDS7758.1																																																																																				0.532	UBQLN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143348.1	NM_017481		4	103	0	0	0	1	0	4	103					T	5530165	C	T	5530165	2	4	432	1	0	0	0	0	0	0	0	1	16895	726	26	3		3	UBQLN3	11	5530165	Silent	SNP	C	TCGA-XJ-A9DX-01A-11D-A377-08	3375916	5530165	129476351	49	20802											
ANO2	57101	broad.mit.edu	37	chr12	5687128	5687129	+	Frame_Shift_Ins	INS	-	-	T																															gcaagtacttacgttgctgaINStaacagagaacttgccaatt																										TCGA-XJ-A9DX-01A-11D-A377-08	TCGA-XJ-A9DX-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	955a0861-eff0-463b-908c-a108ddb4b971	c23cbbc8-b66c-4e06-8c99-00590b5ece18	g.chr12:5687128_5687129insT	ENST00000356134.5	-	24	2505_2506	c.2434_2435insA	c.(2434-2436)atcfs	p.I812fs	ANO2_ENST00000546188.1_Frame_Shift_Ins_p.I812fs|ANO2_ENST00000327087.8_Frame_Shift_Ins_p.I811fs	NM_001278596.1	NP_001265525.1	Q9NQ90	ANO2_HUMAN	anoctamin 2, calcium activated chloride channel	816					chloride transmembrane transport (GO:1902476)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	chloride channel complex (GO:0034707)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)			central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1)	58						TACGTTGCTGATAACAGAGAAC	0.52																																						ENST00000546188.1																			0				central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1)	58						c.(2434-2436)cagfs		anoctamin 2																																				SO:0001589	frameshift_variant	57101					chloride channel complex|plasma membrane	intracellular calcium activated chloride channel activity	g.chr12:5687128_5687129insT	AJ272204	CCDS44807.1, CCDS44807.2	12p13.3	2014-04-09	2014-04-09	2008-08-28		ENSG00000047617		"Ion channels / Chloride channels : Calcium activated : Anoctamins"	1183	protein-coding gene	gene with protein product	"transmembrane protein 16B (eight membrane-spanning domains)"	610109	"chromosome 12 open reading frame 3", "transmembrane protein 16B", "anoctamin 2"	C12orf3, TMEM16B		12739008, 15067359, 24692353	Standard	NM_001278596		Approved		uc001qnm.2	Q9NQ90		ENST00000356134.5:c.2435dupA	12.37:g.5687129_5687129dupT	ENSP00000348453:p.Ile812fs					ANO2_ENST00000327087.8_Frame_Shift_Ins_p.Q811fs|ANO2_ENST00000356134.5_Frame_Shift_Ins_p.Q812fs	p.Q812fs			Q9NQ90	ANO2_HUMAN			23	2505_2506	-			816					C4N787|Q9H847	Frame_Shift_Ins	INS	ENST00000356134.5	37	c.2434_2435insA																																																																																					0.52	ANO2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000399019.4	NM_020373		32	53						32	53	---	---	---	---	T	5687129	-	T	5687128	7	5	432	1	0	1	1	0	0	0	0	0	697	333	12	0	580	0	ANO2	12	5687128	Frame_Shift_Ins	INS	-	TCGA-XJ-A9DX-01A-11D-A377-08		5687128	128164767	50	20803											
TAS2R43	259289	broad.mit.edu	37	chr12	11244069	11244069	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gacaggtttgttttccagacTtccaaaactccaaactgata	13	12	6	10	0	0	2	0	1	0	1	3	3	3	2	3	1	2	2	3	1	4	5			TCGA-XJ-A9DX-01A-11D-A377-08	TCGA-XJ-A9DX-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	955a0861-eff0-463b-908c-a108ddb4b971	c23cbbc8-b66c-4e06-8c99-00590b5ece18	g.chr12:11244069T>G	ENST00000531678.1	-	1	843	c.760A>C	c.(760-762)Agt>Cgt	p.S254R	TAS2R14_ENST00000381852.4_Intron|PRR4_ENST00000536668.1_Intron	NM_176884.2	NP_795365.2	P59537	T2R43_HUMAN	taste receptor, type 2, member 43	254					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|G-protein coupled receptor signaling pathway (GO:0007186)	integral component of membrane (GO:0016021)|motile cilium (GO:0031514)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)|taste receptor activity (GO:0008527)			endometrium(1)|ovary(1)|prostate(2)|urinary_tract(1)	5			OV - Ovarian serous cystadenocarcinoma(49;0.0344)	BRCA - Breast invasive adenocarcinoma(232;0.196)		TTTTCCAGACTTCCAAAACTC	0.393																																						ENST00000531678.1																			0				endometrium(1)|ovary(1)|prostate(2)|urinary_tract(1)	5						c.(760-762)Agt>Cgt		taste receptor, type 2, member 43							137	121	126					12																	11244069		2024	3796	5820	SO:0001583	missense	259289				detection of chemical stimulus involved in sensory perception of bitter taste	cilium membrane|motile cilium	bitter taste receptor activity	g.chr12:11244069T>G	AF494237	CCDS53749.1	12p13.2	2012-08-22				ENSG00000255374		"Taste receptors / Type 2", "GPCR / Unclassified : Taste receptors"	18875	protein-coding gene	gene with protein product		612668				12379855	Standard	NM_176884		Approved	T2R52	uc001qzq.1	P59537		ENST00000531678.1:c.760A>C	12.37:g.11244069T>G	ENSP00000431719:p.Ser254Arg					TAS2R14_ENST00000381852.4_Intron|PRR4_ENST00000536668.1_Intron	p.S254R	NM_176884.2	NP_795365.2	P59537	T2R43_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;0.0344)	BRCA - Breast invasive adenocarcinoma(232;0.196)	1	843	-			254					P59546|Q645X4	Missense_Mutation	SNP	ENST00000531678.1	37	c.760A>C	CCDS53749.1	.	.	.	.	.	.	.	.	.	.	-	0.007	-1.997933	0.00435	.	.	ENSG00000255374	ENST00000531678	T	0.00730	5.77	2.54	-3.83	0.04269	.	.	.	.	.	T	0.00241	0.0007	N	0.00729	-1.24	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.44065	-0.9352	9	0.08381	T	0.77	.	0.5343	0.00634	0.2002:0.1497:0.2028:0.4473	.	254	P59537	T2R43_HUMAN	R	254	ENSP00000431719:S254R	ENSP00000431719:S254R	S	-	1	0	TAS2R43	11135336	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.304000	0.02741	-0.406000	0.07588	0.164000	0.16699	AGT		0.393	TAS2R43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383561.1	NM_176884		5	42	0	0	0	1	0	5	42					G	11244069	T	G	11244069	3	3	432	1	0	0	0	0	1	0	0	0	15578	1609	56	5	173	5	TAS2R43	12	11244069	Missense_Mutation	SNP	T	TCGA-XJ-A9DX-01A-11D-A377-08	5556941	11244069	122607826	51	20804											
ESYT1	23344	broad.mit.edu	37	chr12	56532056	56532056	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	actgctgctgagttagaggaGgtagggcaggagacttgagg	10	8	18	5	0	0	4	0	2	0	2	0	6	0	5	0	5	2	5	0	5	2	3			TCGA-XJ-A9DX-01A-11D-A377-08	TCGA-XJ-A9DX-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	955a0861-eff0-463b-908c-a108ddb4b971	c23cbbc8-b66c-4e06-8c99-00590b5ece18	g.chr12:56532056G>A	ENST00000394048.5	+	21	2601	c.2337G>A	c.(2335-2337)gaG>gaA	p.E779E	ESYT1_ENST00000550878.1_3'UTR|ESYT1_ENST00000541590.1_Splice_Site_p.E789E|ESYT1_ENST00000267113.4_Splice_Site_p.E789E	NM_001184796.1|NM_015292.2	NP_001171725.1|NP_056107.1	Q9BSJ8	ESYT1_HUMAN	extended synaptotagmin-like protein 1	779					lipid transport (GO:0006869)	integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)|metal ion binding (GO:0046872)			breast(2)|endometrium(2)|large_intestine(4)|lung(10)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1)	28						AGTTAGAGGAGGTAGGGCAGG	0.592																																						ENST00000394048.5																			0				breast(2)|endometrium(2)|large_intestine(4)|lung(10)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1)	28						c.e21+1		extended synaptotagmin-like protein 1							81	82	81					12																	56532056		2203	4300	6503	SO:0001630	splice_region_variant	23344					integral to membrane		g.chr12:56532056G>A	AK074368	CCDS8904.1, CCDS53801.1	12q13.2	2014-07-02	2009-06-23	2009-06-23		ENSG00000139641		"Synaptotagmins"	29534	protein-coding gene	gene with protein product			"family with sequence similarity 62 (C2 domain containing), member A"	FAM62A		9872452, 10350628, 17672888	Standard	NM_015292		Approved	MBC2, KIAA0747	uc001sjr.3	Q9BSJ8		ENST00000394048.5:c.2337+1G>A	12.37:g.56532056G>A						ESYT1_ENST00000267113.4_Splice_Site_p.E789_splice|ESYT1_ENST00000541590.1_Splice_Site_p.E789_splice|ESYT1_ENST00000550878.1_3'UTR	p.E779_splice	NM_001184796.1|NM_015292.2	NP_001171725.1|NP_056107.1	Q9BSJ8	ESYT1_HUMAN			21	2601	+			779					A0FGR7|A8K2S2|O94848|Q6PJN4|Q9H6J1|Q9H6W2|Q9Y416	Splice_Site	SNP	ENST00000394048.5	37	c.2337_splice	CCDS8904.1																																																																																				0.592	ESYT1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000407906.1	NM_015292	Silent	18	41	0	0	0	1	0	18	41					A	56532056	G	A	56532056	5	1	432	1	0	0	0	0	0	0	1	0	5264	1014	35	3	2449	3	ESYT1	12	56532056	Splice_Site	SNP	G	TCGA-XJ-A9DX-01A-11D-A377-08	45287987	56532056	77319839	52	20805											
POC1B	282809	broad.mit.edu	37	chr12	89918908	89918908	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	aagacttaccaagttgcttgCcgttggggctgaggtccaag	9	10	13	9	1	0	2	0	1	0	1	1	2	1	2	3	3	3	4	3	3	4	4			TCGA-XJ-A9DX-01A-11D-A377-08	TCGA-XJ-A9DX-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	955a0861-eff0-463b-908c-a108ddb4b971	c23cbbc8-b66c-4e06-8c99-00590b5ece18	g.chr12:89918908C>T	ENST00000313546.3	-	2	217	c.89G>A	c.(88-90)gGc>gAc	p.G30D	GALNT4_ENST00000413530.1_Missense_Mutation_p.A117T|POC1B_ENST00000393179.4_5'UTR|GALNT4_ENST00000529983.2_5'Flank|POC1B_ENST00000549035.1_5'UTR|POC1B-GALNT4_ENST00000547474.1_Missense_Mutation_p.G30D|POC1B_ENST00000541909.1_5'UTR|POC1B-GALNT4_ENST00000548729.1_Missense_Mutation_p.G30D|POC1B_ENST00000549504.1_5'UTR|RP11-734K2.4_ENST00000605233.1_RNA	NM_172240.2	NP_758440.1	Q8TC44	POC1B_HUMAN	POC1 centriolar protein B	30					cell proliferation (GO:0008283)|cilium assembly (GO:0042384)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|spindle pole (GO:0000922)				endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	14						AAGTTGCTTGCCGTTGGGGCT	0.502											OREG0022018	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000548729.1																			0											c.(88-90)gGc>gAc									102	89	93					12																	89918908		2203	4300	6503	SO:0001583	missense	0							g.chr12:89918908C>T	AL832918	CCDS31869.1, CCDS55859.1	12q21.33	2014-05-02	2013-08-21	2010-03-26	ENSG00000139323	ENSG00000139323		"WD repeat domain containing"	30836	protein-coding gene	gene with protein product		614784	"WD repeat domain 51B", "POC1 centriolar protein homolog B (Chlamydomonas)"	WDR51B		19109428	Standard	NM_172240		Approved	TUWD12, FLJ14923		Q8TC44	OTTHUMG00000169944	ENST00000313546.3:c.89G>A	12.37:g.89918908C>T	ENSP00000323302:p.Gly30Asp		OREG0022018	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1271	POC1B-GALNT4_ENST00000413530.1_Missense_Mutation_p.A117T|POC1B_ENST00000541909.1_5'UTR|POC1B_ENST00000393179.4_5'UTR|POC1B_ENST00000313546.3_Missense_Mutation_p.G30D|POC1B_ENST00000549504.1_5'UTR|POC1B-GALNT4_ENST00000547474.1_Missense_Mutation_p.G30D|POC1B_ENST00000549035.1_5'UTR	p.G30D	NM_001199781.1|NM_001199782.1	NP_001186710.1|NP_001186711.1					2	391	-								G3V1X0	Missense_Mutation	SNP	ENST00000313546.3	37	c.89G>A	CCDS31869.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.32|16.32	3.090291|3.090291	0.55968|0.55968	.|.	.|.	ENSG00000259075|ENSG00000139323;ENSG00000259075;ENSG00000259075	ENST00000413530|ENST00000313546;ENST00000548729;ENST00000547474	T|T;T;D	0.71461|0.84800	-0.57|-0.17;0.67;-1.9	4.61|4.61	2.65|2.65	0.31530|0.31530	.|WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	.|0.638100	.|0.16627	.|N	.|0.206202	D|D	0.84629|0.84629	0.5514|0.5514	M|M	0.64567|0.64567	1.98|1.98	0.09310|0.09310	N|N	1|1	.|B;B	.|0.26708	.|0.13;0.157	.|B;B	.|0.35931	.|0.023;0.214	T|T	0.78904|0.78904	-0.2020|-0.2020	7|10	0.31617|0.62326	T|D	0.26|0.03	.|.	12.5886|12.5886	0.56430|0.56430	0.0:0.5512:0.4488:0.0|0.0:0.5512:0.4488:0.0	.|.	.|30;30	.|F8VUJ3;Q8TC44	.|.;POC1B_HUMAN	T|D	117|30	ENSP00000389686:A117T|ENSP00000323302:G30D;ENSP00000447852:G30D;ENSP00000447754:G30D	ENSP00000389686:A117T|ENSP00000323302:G30D	A|G	-|-	1|2	0|0	RP11-1109F11.4|POC1B;RP11-1109F11.4	88443039|88443039	0.099000|0.099000	0.21834|0.21834	0.089000|0.089000	0.20774|0.20774	0.922000|0.922000	0.55478|0.55478	0.936000|0.936000	0.28938|0.28938	1.132000|1.132000	0.42129|0.42129	0.555000|0.555000	0.69702|0.69702	GCA|GGC		0.502	POC1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406637.1	NM_172240		3	52	0	0	0	1	0	3	52					T	89918908	C	T	89918908	3	4	432	1	0	0	0	0	1	0	0	0	12176	739	26	3	1391	3	POC1B	12	89918908	Missense_Mutation	SNP	C	TCGA-XJ-A9DX-01A-11D-A377-08	33386852	89918908	43932987	53	20806											
DCN	1634	broad.mit.edu	37	chr12	91552274	91552274	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttgctaattttattgttgaCaagaatcaatgcctgtagat	12	17	7	5	0	1	3	1	1	0	2	1	3	1	3	1	0	2	3	1	0	6	7			TCGA-XJ-A9DX-01A-11D-A377-08	TCGA-XJ-A9DX-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	955a0861-eff0-463b-908c-a108ddb4b971	c23cbbc8-b66c-4e06-8c99-00590b5ece18	g.chr12:91552274C>A	ENST00000052754.5	-	4	838	c.337G>T	c.(337-339)Gtc>Ttc	p.V113F	DCN_ENST00000425043.1_Intron|DCN_ENST00000441303.2_Intron|DCN_ENST00000552962.1_Missense_Mutation_p.V113F|DCN_ENST00000393155.1_Missense_Mutation_p.V113F|DCN_ENST00000547568.2_Intron|DCN_ENST00000228329.5_Intron|DCN_ENST00000303320.3_Intron|DCN_ENST00000456569.2_Intron|DCN_ENST00000420120.2_Intron	NM_001920.3	NP_001911.1	P07585	PGS2_HUMAN	decorin	113					aging (GO:0007568)|carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|kidney development (GO:0001822)|organ morphogenesis (GO:0009887)|peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)|placenta development (GO:0001890)|response to lipopolysaccharide (GO:0032496)|response to mechanical stimulus (GO:0009612)|skeletal muscle tissue development (GO:0007519)|small molecule metabolic process (GO:0044281)|wound healing (GO:0042060)	collagen type VI trimer (GO:0005589)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix binding (GO:0050840)|glycosaminoglycan binding (GO:0005539)|poly(A) RNA binding (GO:0044822)			central_nervous_system(2)|cervix(1)|kidney(2)|large_intestine(4)|liver(1)|lung(8)|ovary(1)|skin(1)	20						TTATTGTTGACAAGAATCAAT	0.363																																						ENST00000052754.5																			0				central_nervous_system(2)|cervix(1)|kidney(2)|large_intestine(4)|liver(1)|lung(8)|ovary(1)|skin(1)	20						c.(337-339)Gtc>Ttc		decorin							84	81	82					12																	91552274		2203	4300	6503	SO:0001583	missense	1634				organ morphogenesis	extracellular space		g.chr12:91552274C>A	AF138300	CCDS9039.1, CCDS9040.1, CCDS9041.1, CCDS9042.1, CCDS44951.1	12q21.33	2014-04-16			ENSG00000011465	ENSG00000011465		"Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"	2705	protein-coding gene	gene with protein product	"decorin proteoglycan"	125255				8432526	Standard	NM_133507		Approved	DSPG2, SLRR1B	uc001tbt.3	P07585	OTTHUMG00000169998	ENST00000052754.5:c.337G>T	12.37:g.91552274C>A	ENSP00000052754:p.Val113Phe					DCN_ENST00000303320.3_Intron|DCN_ENST00000425043.1_Intron|DCN_ENST00000228329.5_Intron|DCN_ENST00000547568.2_Intron|DCN_ENST00000456569.2_Intron|DCN_ENST00000393155.1_Missense_Mutation_p.V113F|DCN_ENST00000441303.2_Intron|DCN_ENST00000552962.1_Missense_Mutation_p.V113F|DCN_ENST00000420120.2_Intron	p.V113F	NM_001920.3	NP_001911.1	P07585	PGS2_HUMAN			4	838	-			113					Q9P0Z0|Q9P0Z1|Q9Y5N8|Q9Y5N9	Missense_Mutation	SNP	ENST00000052754.5	37	c.337G>T	CCDS9039.1	.	.	.	.	.	.	.	.	.	.	C	24.2	4.500109	0.85176	.	.	ENSG00000011465	ENST00000052754;ENST00000393155;ENST00000552962;ENST00000547937;ENST00000552145;ENST00000550563;ENST00000549513	T;T;T;T;T;T;T	0.57595	0.42;0.42;0.42;0.42;0.42;0.42;0.39	5.69	4.79	0.61399	.	0.052298	0.85682	D	0.000000	T	0.37046	0.0989	N	0.04746	-0.17	0.80722	D	1	P	0.48294	0.908	P	0.49387	0.609	T	0.16424	-1.0403	10	0.10111	T	0.7	.	13.473	0.61292	0.0:0.9233:0.0:0.0767	.	113	P07585	PGS2_HUMAN	F	113	ENSP00000052754:V113F;ENSP00000376862:V113F;ENSP00000447654:V113F;ENSP00000449782:V113F;ENSP00000447886:V113F;ENSP00000449014:V113F;ENSP00000449438:V113F	ENSP00000052754:V113F	V	-	1	0	DCN	90076405	1.000000	0.71417	0.999000	0.59377	0.979000	0.70002	4.591000	0.61019	1.393000	0.46605	0.650000	0.86243	GTC		0.363	DCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406799.3	NM_133507		20	51	1	0	7.45023e-12	1	8.75905e-12	20	51					A	91552274	C	A	91552274	3	1	432	1	0	0	0	0	1	0	0	0	4297	478	17	5	762	5	DCN	12	91552274	Missense_Mutation	SNP	C	TCGA-XJ-A9DX-01A-11D-A377-08	1633366	91552274	42299621	54	20807											
SLC17A8	246213	broad.mit.edu	37	chr12	100795591	100795591	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtggttgccatgcccctggCtggggtgttggtgcagtaca	5	11	16	9	0	0	0	0	0	0	0	0	0	0	0	3	5	4	5	3	5	1	3			TCGA-XJ-A9DX-01A-11D-A377-08	TCGA-XJ-A9DX-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	955a0861-eff0-463b-908c-a108ddb4b971	c23cbbc8-b66c-4e06-8c99-00590b5ece18	g.chr12:100795591C>A	ENST00000323346.5	+	6	1026	c.713C>A	c.(712-714)gCt>gAt	p.A238D	snoU13_ENST00000459038.1_RNA|SLC17A8_ENST00000392989.3_Missense_Mutation_p.A238D	NM_001145288.1|NM_139319.2	NP_001138760.1|NP_647480.1	Q8NDX2	VGLU3_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 8	238					ion transport (GO:0006811)|neurotransmitter transport (GO:0006836)|sensory perception of sound (GO:0007605)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|synaptic vesicle membrane (GO:0030672)	L-glutamate transmembrane transporter activity (GO:0005313)|symporter activity (GO:0015293)			NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	44						ATGCCCCTGGCTGGGGTGTTG	0.448																																						ENST00000323346.5																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	44						c.(712-714)gCt>gAt		solute carrier family 17 (vesicular glutamate transporter), member 8							299	283	289					12																	100795591		2203	4300	6503	SO:0001583	missense	246213				neurotransmitter transport|sensory perception of sound|sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity	g.chr12:100795591C>A	AJ459241	CCDS9077.1, CCDS44957.1	12q23.1	2013-07-18	2013-07-18		ENSG00000179520	ENSG00000179520		"Solute carriers"	20151	protein-coding gene	gene with protein product	"vesicular glutamate transporter 3"	607557	"deafness, autosomal dominant 25", "solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 8"	DFNA25		12151341	Standard	NM_139319		Approved	VGLUT3	uc010svi.2	Q8NDX2	OTTHUMG00000170358	ENST00000323346.5:c.713C>A	12.37:g.100795591C>A	ENSP00000316909:p.Ala238Asp					SLC17A8_ENST00000392989.3_Missense_Mutation_p.A238D	p.A238D	NM_001145288.1|NM_139319.2	NP_001138760.1|NP_647480.1	Q8NDX2	VGLU3_HUMAN			6	1026	+			238					B3KXZ6|B7ZKV4|Q17RQ8	Missense_Mutation	SNP	ENST00000323346.5	37	c.713C>A	CCDS9077.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.136818	0.77662	.	.	ENSG00000179520	ENST00000323346;ENST00000392989	T;T	0.61627	0.09;0.09	5.45	5.45	0.79879	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	T	0.80093	0.4560	M	0.87971	2.92	0.80722	D	1	D;D	0.65815	0.992;0.995	D;D	0.69142	0.958;0.962	T	0.83074	-0.0141	10	0.87932	D	0	.	19.661	0.95871	0.0:1.0:0.0:0.0	.	238;238	Q8NDX2;Q8NDX2-2	VGLU3_HUMAN;.	D	238	ENSP00000316909:A238D;ENSP00000376715:A238D	ENSP00000316909:A238D	A	+	2	0	SLC17A8	99319722	1.000000	0.71417	0.976000	0.42696	0.372000	0.29890	7.762000	0.85270	2.714000	0.92807	0.563000	0.77884	GCT		0.448	SLC17A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408673.2	NM_139319		28	86	1	0	2.70662e-09	1	3.05813e-09	28	86					A	100795591	C	A	100795591	3	1	432	1	0	0	0	0	1	0	0	0	14423	797	28	5	735	5	SLC17A8	12	100795591	Missense_Mutation	SNP	C	TCGA-XJ-A9DX-01A-11D-A377-08	9243317	100795591	33056304	55	20808											
SART3	9733	broad.mit.edu	37	chr12	108931976	108931976	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	atcctttactttcagttgtcGatcctatgataaagaattcc	11	16	5	9	1	1	2	1	1	0	1	5	3	4	2	3	0	1	1	3	0	5	7			TCGA-XJ-A9DX-01A-11D-A377-08	TCGA-XJ-A9DX-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	955a0861-eff0-463b-908c-a108ddb4b971	c23cbbc8-b66c-4e06-8c99-00590b5ece18	g.chr12:108931976G>C	ENST00000228284.3	-	8	1300	c.1066C>G	c.(1066-1068)Cga>Gga	p.R356G	SART3_ENST00000431469.2_Missense_Mutation_p.R356G	NM_014706.3	NP_055521.1	Q15020	SART3_HUMAN	squamous cell carcinoma antigen recognized by T cells 3	356					cell morphogenesis (GO:0000902)|hematopoietic stem cell proliferation (GO:0071425)|homeostasis of number of cells (GO:0048872)|regulation of gene expression (GO:0010468)|RNA processing (GO:0006396)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.R356*(1)		NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|stomach(1)	25						TTCAGTTGTCGATCCTATGAT	0.408									Porokeratosis																													ENST00000228284.3																			1	Substitution - Nonsense(1)	p.R356*(1)	endometrium(1)	NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|stomach(1)	25						c.(1066-1068)Cga>Gga		squamous cell carcinoma antigen recognized by T cells 3							103	103	103					12																	108931976		2203	4300	6503	SO:0001583	missense	9733	Porokeratosis	Familial Cancer Database	incl.: Porokeratosis of Mibelli, Disseminated Superficial Actinic Porokertosis, Porokeratosis Palmaris Plantaris et Disseminata, Porokeratosis Punctata Palmaris et Plantaris, Linear Porokeratosis	RNA processing	cytoplasm|nuclear speck	nucleotide binding|protein binding|RNA binding	g.chr12:108931976G>C	AB020880	CCDS9117.1	12q24.11	2013-02-12	2006-12-07			ENSG00000075856		"RNA binding motif (RRM) containing"	16860	protein-coding gene	gene with protein product		611684	"squamous cell carcinoma antigen recognised by T cells 3"			12032085, 15840095, 20595234	Standard	NM_014706		Approved	KIAA0156, RP11-13G14, TIP110, p110	uc001tmz.1	Q15020	OTTHUMG00000169449	ENST00000228284.3:c.1066C>G	12.37:g.108931976G>C	ENSP00000228284:p.Arg356Gly					SART3_ENST00000431469.2_Missense_Mutation_p.R356G	p.R356G	NM_014706.3	NP_055521.1	Q15020	SART3_HUMAN			8	1300	-			356					A8K2E4|Q2M2H0|Q58F06|Q8IUS1|Q96J95	Missense_Mutation	SNP	ENST00000228284.3	37	c.1066C>G	CCDS9117.1	.	.	.	.	.	.	.	.	.	.	G	12.96	2.094817	0.36952	.	.	ENSG00000075856	ENST00000228284;ENST00000431469;ENST00000412617;ENST00000546815	T;T;T	0.33654	1.4;1.4;1.4	6.16	5.27	0.74061	.	0.000000	0.85682	D	0.000000	T	0.47525	0.1450	L	0.46741	1.465	0.80722	D	1	D;D;D;D	0.69078	0.957;0.985;0.997;0.997	P;P;P;P	0.60236	0.673;0.761;0.871;0.871	T	0.31971	-0.9924	10	0.22109	T	0.4	-29.7315	14.6958	0.69121	0.0:0.0:0.6274:0.3726	.	304;374;356;356	E7EMI4;F8VV04;B7ZKM0;Q15020	.;.;.;SART3_HUMAN	G	356;356;304;374	ENSP00000228284:R356G;ENSP00000414453:R356G;ENSP00000449386:R374G	ENSP00000228284:R356G	R	-	1	2	SART3	107456106	1.000000	0.71417	0.994000	0.49952	0.048000	0.14542	4.395000	0.59678	1.611000	0.50210	-0.175000	0.13238	CGA		0.408	SART3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404094.1			12	35	0	0	0	1	0	12	35					C	108931976	G	C	108931976	3	2	432	1	0	0	0	0	1	0	0	0	13847	1066	37	5	1873	5	SART3	12	108931976	Missense_Mutation	SNP	G	TCGA-XJ-A9DX-01A-11D-A377-08	8136385	108931976	24919919	56	20809											
SACS	26278	broad.mit.edu	37	chr13	23909827	23909827	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttctgccccatctgagcgcaGtttgtccaaaagattctgga	9	12	9	11	1	3	2	0	1	3	1	4	3	4	3	3	1	2	2	3	1	2	3			TCGA-XJ-A9DX-01A-11D-A377-08	TCGA-XJ-A9DX-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	955a0861-eff0-463b-908c-a108ddb4b971	c23cbbc8-b66c-4e06-8c99-00590b5ece18	g.chr13:23909827G>T	ENST00000382292.3	-	9	8461	c.8188C>A	c.(8188-8190)Ctg>Atg	p.L2730M	SACS_ENST00000402364.1_Missense_Mutation_p.L1980M|SACS_ENST00000382298.3_Missense_Mutation_p.L2730M			Q9NZJ4	SACS_HUMAN	sacsin molecular chaperone	2730					cell death (GO:0008219)|negative regulation of inclusion body assembly (GO:0090084)|protein folding (GO:0006457)	axon (GO:0030424)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chaperone binding (GO:0051087)|Hsp70 protein binding (GO:0030544)|proteasome binding (GO:0070628)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		TCTGAGCGCAGTTTGTCCAAA	0.378																																						ENST00000382298.3																			0				NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189						c.(8188-8190)Ctg>Atg		spastic ataxia of Charlevoix-Saguenay (sacsin)							69	69	69					13																	23909827		2203	4299	6502	SO:0001583	missense	26278				cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding	g.chr13:23909827G>T	AF193556	CCDS9300.2	13q11	2014-06-13	2014-01-30		ENSG00000151835	ENSG00000151835		"Heat shock proteins / DNAJ (HSP40)"	10519	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 138"	604490	"spastic ataxia of Charlevoix-Saguenay (sacsin)"			10610707, 15057823, 21726565	Standard	NM_001278055		Approved	ARSACS, KIAA0730, DKFZp686B15167, DNAJC29, SPAX6, PPP1R138	uc001uon.3	Q9NZJ4	OTTHUMG00000016562	ENST00000382292.3:c.8188C>A	13.37:g.23909827G>T	ENSP00000371729:p.Leu2730Met					SACS_ENST00000402364.1_Missense_Mutation_p.L1980M|SACS_ENST00000382292.3_Missense_Mutation_p.L2730M	p.L2730M	NM_014363.4	NP_055178.3	Q9NZJ4	SACS_HUMAN		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)	10	8776	-		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)	2730					O94835|Q5T9J5|Q5T9J7|Q5T9J8|Q68DF5|Q6MZR4|Q8NBF9	Missense_Mutation	SNP	ENST00000382292.3	37	c.8188C>A	CCDS9300.2	.	.	.	.	.	.	.	.	.	.	G	16.61	3.169852	0.57584	.	.	ENSG00000151835	ENST00000382292;ENST00000402364;ENST00000382298	D;D;D	0.94232	-3.38;-3.38;-3.38	5.56	-5.12	0.02893	ATPase-like, ATP-binding domain (1);	0.000000	0.64402	D	0.000002	D	0.89329	0.6684	L	0.39898	1.24	0.25581	N	0.986795	P	0.49961	0.93	P	0.45506	0.483	D	0.85247	0.1042	10	0.59425	D	0.04	.	16.0884	0.81073	0.3745:0.0:0.6255:0.0	.	2730	Q9NZJ4	SACS_HUMAN	M	2730;1980;2730	ENSP00000371729:L2730M;ENSP00000385844:L1980M;ENSP00000371735:L2730M	ENSP00000371729:L2730M	L	-	1	2	SACS	22807827	0.153000	0.22777	0.196000	0.23383	0.950000	0.60333	0.146000	0.16180	-0.866000	0.04068	-0.672000	0.03802	CTG		0.378	SACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044148.3	NM_014363		23	56	1	0	7.41945e-09	1	8.27554e-09	23	56					T	23909827	G	T	23909827	3	4	432	1	0	0	0	0	1	0	0	0	13804	1020	36	5	5555	5	SACS	13	23909827	Missense_Mutation	SNP	G	TCGA-XJ-A9DX-01A-11D-A377-08		23909827	91260051	57	20810											
FAM48A	55578	broad.mit.edu	37	chr13	37607706	37607706	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagctaggatgagctggctcTcaagcaaaagtttgtcttcc	10	12	10	9	0	2	1	1	1	2	0	4	2	3	2	1	2	3	5	1	2	5	4			TCGA-XJ-A9DX-01A-11D-A377-08	TCGA-XJ-A9DX-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	955a0861-eff0-463b-908c-a108ddb4b971	c23cbbc8-b66c-4e06-8c99-00590b5ece18	g.chr13:37607706T>C	ENST00000350612.6	-	10	807	c.587A>G	c.(586-588)gAg>gGg	p.E196G	AL138706.1_ENST00000408173.1_RNA|SUPT20H_ENST00000542180.1_Missense_Mutation_p.E184G|SUPT20H_ENST00000464744.1_Missense_Mutation_p.E197G|SUPT20H_ENST00000475892.1_Missense_Mutation_p.E196G|SUPT20H_ENST00000356185.3_Missense_Mutation_p.E197G|SUPT20H_ENST00000360252.4_Missense_Mutation_p.E197G	NM_001014286.2	NP_001014308.2	Q8NEM7	SP20H_HUMAN	suppressor of Ty 20 homolog (S. cerevisiae)	196					autophagy (GO:0006914)|chromatin organization (GO:0006325)|gastrulation (GO:0007369)	SAGA complex (GO:0000124)|SAGA-type complex (GO:0070461)	transcription cofactor activity (GO:0003712)										GAGCTGGCTCTCAAGCAAAAG	0.373																																						ENST00000360252.4																			0											c.(589-591)gAg>gGg		suppressor of Ty 20 homolog (S. cerevisiae)							138	119	125					13																	37607706		2203	4300	6503	SO:0001583	missense	55578							g.chr13:37607706T>C	AF093250	CCDS9362.1, CCDS31959.1, CCDS61311.1	13q13	2012-11-29	2012-11-29	2012-11-29	ENSG00000102710	ENSG00000102710			20596	protein-coding gene	gene with protein product	"p38 interacting protein", "transcription factor (p38 interacting protein)"	613417	"chromosome 13 open reading frame 19", "family with sequence similarity 48, member A"	C13orf19, FAM48A		12070015 , 16685401	Standard	NM_001278480		Approved	SPT20, bA421P11.4, P38IP	uc001uwg.3	Q8NEM7	OTTHUMG00000016747	ENST00000350612.6:c.587A>G	13.37:g.37607706T>C	ENSP00000218894:p.Glu196Gly					SUPT20H_ENST00000356185.3_Missense_Mutation_p.E197G|SUPT20H_ENST00000475892.1_Missense_Mutation_p.E196G|SUPT20H_ENST00000350612.6_Missense_Mutation_p.E196G|SUPT20H_ENST00000542180.1_Missense_Mutation_p.E184G|SUPT20H_ENST00000464744.1_Missense_Mutation_p.E197G	p.E197G	NM_001278481.1|NM_001278482.1|NM_017569.3	NP_001265410.1|NP_001265411.1|NP_060039.1					10	837	-								E7ER46|Q71RF3|Q9Y6A6	Missense_Mutation	SNP	ENST00000350612.6	37	c.590A>G	CCDS31959.1	.	.	.	.	.	.	.	.	.	.	T	25.3	4.625511	0.87560	.	.	ENSG00000102710	ENST00000360252;ENST00000475892;ENST00000350612;ENST00000356185;ENST00000536874;ENST00000464744;ENST00000542180	T;T;T;T;T;T	0.72505	-0.66;-0.66;-0.66;-0.66;-0.66;-0.66	5.85	5.85	0.93711	.	0.000000	0.85682	D	0.000000	D	0.86146	0.5863	M	0.88775	2.98	0.80722	D	1	P;P;D;D;P;P	0.60575	0.895;0.941;0.988;0.987;0.922;0.937	P;P;D;D;P;D	0.67382	0.85;0.85;0.951;0.951;0.895;0.951	D	0.88794	0.3280	10	0.87932	D	0	-8.8294	16.2421	0.82418	0.0:0.0:0.0:1.0	.	184;196;196;197;197;196	B4E2D5;B3KNI1;E7ER46;A8K8L1;Q8NEM7-2;Q8NEM7	.;.;.;.;.;FA48A_HUMAN	G	197;196;196;197;196;197;184	ENSP00000353388:E197G;ENSP00000417510:E196G;ENSP00000218894:E196G;ENSP00000348512:E197G;ENSP00000419754:E197G;ENSP00000439000:E184G	ENSP00000218894:E196G	E	-	2	0	FAM48A	36505706	1.000000	0.71417	1.000000	0.80357	0.931000	0.56810	7.642000	0.83385	2.234000	0.73211	0.533000	0.62120	GAG		0.373	SUPT20H-016	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000354766.1	NM_017569		12	40	0	0	0	1	0	12	40					C	37607706	T	C	37607706	3	2	432	1	0	0	0	0	1	0	0	0	5572	1551	54	4	1820	4	FAM48A	13	37607706	Missense_Mutation	SNP	T	TCGA-XJ-A9DX-01A-11D-A377-08	13697879	37607706	77562172	58	20811											
OR10G3	26533	broad.mit.edu	37	chr14	22038145	22038146	+	Frame_Shift_Ins	INS	-	-	CTCC																															ggtgaccacggttacatgggINSctccacaagttgaaaaagcc																										TCGA-XJ-A9DX-01A-11D-A377-08	TCGA-XJ-A9DX-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	955a0861-eff0-463b-908c-a108ddb4b971	c23cbbc8-b66c-4e06-8c99-00590b5ece18	g.chr14:22038145_22038146insCTCC	ENST00000303532.1	-	1	729_730	c.730_731insGGAG	c.(730-732)gccfs	p.A244fs		NM_001005465.1	NP_001005465.1	Q8NGC4	O10G3_HUMAN	olfactory receptor, family 10, subfamily G, member 3	244						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)	15	all_cancers(95;0.000987)			GBM - Glioblastoma multiforme(265;0.0139)		GGTTACATGGGCTCCACAAGTT	0.569																																						ENST00000303532.1																			0				central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)	15						c.(730-732)ccafs		olfactory receptor, family 10, subfamily G, member 3																																				SO:0001589	frameshift_variant	26533				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:22038145_22038146insCTCC		CCDS32046.1	14q11.2	2013-09-24			ENSG00000169208	ENSG00000169208		"GPCR / Class A : Olfactory receptors"	8171	protein-coding gene	gene with protein product						8188290	Standard	NM_001005465		Approved		uc010tmb.2	Q8NGC4	OTTHUMG00000168886	ENST00000303532.1:c.727_730dupGGAG	14.37:g.22038146_22038149dupCTCC	ENSP00000302437:p.Ala244fs						p.P244fs	NM_001005465.1	NP_001005465.1	Q8NGC4	O10G3_HUMAN		GBM - Glioblastoma multiforme(265;0.0139)	1	729_730	-	all_cancers(95;0.000987)		244					Q6IET7|Q96R77	Frame_Shift_Ins	INS	ENST00000303532.1	37	c.730_731insGGAG	CCDS32046.1																																																																																				0.569	OR10G3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401521.1			18	53						18	53	---	---	---	---	CTCC	22038146	-	CTCC	22038145	7	5	432	1	0	1	1	0	0	0	0	0	10900	1203	42	0	213	0	OR10G3	14	22038145	Frame_Shift_Ins	INS	-	TCGA-XJ-A9DX-01A-11D-A377-08		22038145	85311395	59	20812											
HEATR5A	25938	broad.mit.edu	37	chr14	31765178	31765178	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	cagcgcttctgaaggcatggGatggtagttacttctggact	8	12	13	8	1	2	1	0	1	2	0	2	3	2	3	0	4	2	4	0	4	3	4			TCGA-XJ-A9DX-01A-11D-A377-08	TCGA-XJ-A9DX-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	955a0861-eff0-463b-908c-a108ddb4b971	c23cbbc8-b66c-4e06-8c99-00590b5ece18	g.chr14:31765178G>A	ENST00000389961.3	-	33	5537	c.5538C>T	c.(5536-5538)atC>atT	p.I1846I	HEATR5A_ENST00000439348.1_Silent_p.I1771I|HEATR5A_ENST00000543095.2_Silent_p.I1852I|HEATR5A_ENST00000439727.1_Silent_p.I1559I|RP11-596D21.1_ENST00000551799.1_RNA			Q86XA9	HTR5A_HUMAN	HEAT repeat containing 5A	1846										breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)	26	Hepatocellular(127;0.0877)|Breast(36;0.137)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.0797)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.0059)		GAAGGCATGGGATGGTAGTTA	0.368																																						ENST00000543095.2																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)	26						c.(5554-5556)atC>atT		HEAT repeat containing 5A							171	162	165					14																	31765178		1879	4120	5999	SO:0001819	synonymous_variant	25938						binding	g.chr14:31765178G>A	AB037737		14q12	2012-04-19	2007-01-02	2007-01-02	ENSG00000129493	ENSG00000129493			20276	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 125"	C14orf125			Standard	NM_015473		Approved	DKFZP434I1735	uc001wrf.4	Q86XA9	OTTHUMG00000169043	ENST00000389961.3:c.5538C>T	14.37:g.31765178G>A						HEATR5A_ENST00000389961.3_Silent_p.I1846I|HEATR5A_ENST00000439727.1_Silent_p.I1559I|HEATR5A_ENST00000439348.1_Silent_p.I1771I|RP11-596D21.1_ENST00000551799.1_RNA	p.I1852I	NM_015473.3	NP_056288.2	Q86XA9	HTR5A_HUMAN	LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.0797)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.0059)	34	5740	-	Hepatocellular(127;0.0877)|Breast(36;0.137)		1846					Q68DD8|Q6P3S5|Q6P5R9|Q9H8D7|Q9NXB7|Q9P2N0|Q9UFQ3	Silent	SNP	ENST00000389961.3	37	c.5556C>T		.	.	.	.	.	.	.	.	.	.	G	9.926	1.213636	0.22289	.	.	ENSG00000129493	ENST00000538864	.	.	.	5.8	3.97	0.46021	.	.	.	.	.	T	0.45357	0.1338	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.42716	-0.9435	4	.	.	.	-2.8997	2.4447	0.04503	0.1542:0.2358:0.4647:0.1453	.	.	.	.	F	1405	.	.	S	-	2	0	HEATR5A	30834929	0.622000	0.27085	1.000000	0.80357	0.996000	0.88848	-0.201000	0.09464	1.449000	0.47699	0.591000	0.81541	TCC		0.368	HEATR5A-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_015473		13	47	0	0	0	1	0	13	47					A	31765178	G	A	31765178	2	1	432	1	0	0	0	0	0	0	0	1	7031	1164	41	3		3	HEATR5A	14	31765178	Silent	SNP	G	TCGA-XJ-A9DX-01A-11D-A377-08	9727033	31765178	75584362	60	20813											
BDKRB2	624	broad.mit.edu	37	chr14	96707048	96707048	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgactggctctttggggagaCgctctgccgcgtggtgaatg	5	10	16	10	4	2	2	0	1	2	1	2	4	2	2	1	4	1	2	1	4	1	1	rs183386880	byFrequency	TCGA-XJ-A9DX-01A-11D-A377-08	TCGA-XJ-A9DX-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	955a0861-eff0-463b-908c-a108ddb4b971	c23cbbc8-b66c-4e06-8c99-00590b5ece18	g.chr14:96707048C>T	ENST00000306005.3	+	3	579	c.383C>T	c.(382-384)aCg>aTg	p.T128M	BDKRB2_ENST00000542454.2_Missense_Mutation_p.T101M|BDKRB2_ENST00000539359.1_Missense_Mutation_p.T101M|BDKRB2_ENST00000554311.1_Missense_Mutation_p.T128M|RP11-404P21.8_ENST00000553811.1_Intron	NM_000623.3	NP_000614.1	P30411	BKRB2_HUMAN	bradykinin receptor B2	128					arachidonic acid secretion (GO:0050482)|blood circulation (GO:0008015)|cell surface receptor signaling pathway (GO:0007166)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|metabolic process (GO:0008152)|negative regulation of intrinsic apoptotic signaling pathway in response to osmotic stress by p53 class mediator (GO:1902239)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of vascular permeability (GO:0043114)|regulation of vasoconstriction (GO:0019229)|response to salt stress (GO:0009651)|smooth muscle contraction (GO:0006939)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vasoconstriction (GO:0042310)|vasodilation (GO:0042311)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	bradykinin receptor activity (GO:0004947)|phosphatidylinositol phospholipase C activity (GO:0004435)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|type 1 angiotensin receptor binding (GO:0031702)	p.T128M(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(5)|lung(7)|ovary(3)|skin(1)	24		all_cancers(154;0.0678)|Melanoma(154;0.155)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.226)	Icatibant(DB06196)	TTTGGGGAGACGCTCTGCCGC	0.587													C|||	5	0.000998403	0	0	5008	,	,		20523	0.003		0	False		,,,				2504	0.002					ENST00000542454.2																			1	Substitution - Missense(1)	p.T128M(1)	endometrium(1)	breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(5)|lung(7)|ovary(3)|skin(1)	24						c.(301-303)aCg>aTg		bradykinin receptor B2							146	148	147					14																	96707048		2203	4300	6503	SO:0001583	missense	0				arachidonic acid secretion|elevation of cytosolic calcium ion concentration|transmembrane receptor protein tyrosine kinase signaling pathway	endosome|integral to plasma membrane	bradykinin receptor activity|phosphatidylinositol phospholipase C activity|protease binding|protein heterodimerization activity|type 1 angiotensin receptor binding	g.chr14:96707048C>T	S56772	CCDS9942.1	14q32.1-q32.2	2012-08-08				ENSG00000168398		"GPCR / Class A : Bradykinin receptors"	1030	protein-coding gene	gene with protein product		113503				7916737	Standard	NM_000623		Approved	BK-2	uc010avm.1	P30411		ENST00000306005.3:c.383C>T	14.37:g.96707048C>T	ENSP00000307713:p.Thr128Met					BDKRB2_ENST00000539359.1_Missense_Mutation_p.T101M|BDKRB2_ENST00000306005.3_Missense_Mutation_p.T128M|RP11-404P21.8_ENST00000553811.1_Intron|BDKRB2_ENST00000554311.1_Missense_Mutation_p.T128M	p.T101M			P30411	BKRB2_HUMAN		COAD - Colon adenocarcinoma(157;0.226)	3	3390	+		all_cancers(154;0.0678)|Melanoma(154;0.155)|all_epithelial(191;0.179)	128						Missense_Mutation	SNP	ENST00000306005.3	37	c.302C>T	CCDS9942.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	8.269	0.813012	0.16537	.	.	ENSG00000168398	ENST00000542454;ENST00000554311;ENST00000306005;ENST00000539359	T;T;T;T	0.71934	-0.61;-0.61;-0.61;-0.61	4.68	-3.91	0.04168	GPCR, rhodopsin-like superfamily (1);	0.595996	0.17777	N	0.162372	T	0.54078	0.1836	L	0.28192	0.835	0.09310	N	1	P	0.44195	0.828	B	0.41917	0.37	T	0.54906	-0.8223	10	0.41790	T	0.15	-10.1353	12.669	0.56857	0.0:0.5206:0.0:0.4794	.	128	P30411	BKRB2_HUMAN	M	101;128;128;101	ENSP00000439459:T101M;ENSP00000450482:T128M;ENSP00000307713:T128M;ENSP00000438376:T101M	ENSP00000307713:T128M	T	+	2	0	BDKRB2	95776801	0.000000	0.05858	0.007000	0.13788	0.588000	0.36517	0.190000	0.17057	-0.992000	0.03472	-0.258000	0.10820	ACG		0.587	BDKRB2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413294.1			9	107	0	0	0	1	0	9	107					T	96707048	C	T	96707048	3	4	432	1	0	0	0	0	1	0	0	0	1393	536	19	1	389	1	BDKRB2	14	96707048	Missense_Mutation	SNP	C	TCGA-XJ-A9DX-01A-11D-A377-08	64941870	96707048	10642492	61	20814											
BCKDK	10295	broad.mit.edu	37	chr16	31122508	31122508	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atccctatgccactggactaCatcctgccggagctgctcaa	9	9	8	15	1	1	0	1	0	0	0	3	2	3	2	4	2	5	2	4	2	3	2			TCGA-XJ-A9DX-01A-11D-A377-08	TCGA-XJ-A9DX-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	955a0861-eff0-463b-908c-a108ddb4b971	c23cbbc8-b66c-4e06-8c99-00590b5ece18	g.chr16:31122508C>T	ENST00000394951.1	+	10	1436	c.813C>T	c.(811-813)taC>taT	p.Y271Y	BCKDK_ENST00000287507.3_Silent_p.Y271Y|BCKDK_ENST00000219794.6_Silent_p.Y271Y|AC135050.1_ENST00000517000.2_RNA|BCKDK_ENST00000394950.3_Silent_p.Y271Y			O14874	BCKD_HUMAN	branched chain ketoacid dehydrogenase kinase	271	Histidine kinase. {ECO:0000255|PROSITE- ProRule:PRU00107}.				branched-chain amino acid catabolic process (GO:0009083)|cellular amino acid catabolic process (GO:0009063)|phosphorylation (GO:0016310)|protein phosphorylation (GO:0006468)	mitochondrial alpha-ketoglutarate dehydrogenase complex (GO:0005947)|mitochondrion (GO:0005739)	[3-methyl-2-oxobutanoate dehydrogenase (acetyl-transferring)] kinase activity (GO:0047323)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|stomach(1)	2						CACTGGACTACATCCTGCCGG	0.602																																						ENST00000394951.1																			0				breast(1)|stomach(1)	2						c.(811-813)taC>taT		branched chain ketoacid dehydrogenase kinase							82	74	77					16																	31122508		2197	4300	6497	SO:0001819	synonymous_variant	10295				branched chain family amino acid catabolic process|peptidyl-histidine phosphorylation	mitochondrial alpha-ketoglutarate dehydrogenase complex	[3-methyl-2-oxobutanoate dehydrogenase (acetyl-transferring)] kinase activity|ATP binding|protein binding|protein serine/threonine kinase activity|two-component sensor activity	g.chr16:31122508C>T	AF026548	CCDS10705.1, CCDS45467.1, CCDS61917.1	16p11.2	2008-05-14			ENSG00000103507	ENSG00000103507			16902	protein-coding gene	gene with protein product		614901				1889817	Standard	NM_005881		Approved		uc002eaw.5	O14874	OTTHUMG00000047356	ENST00000394951.1:c.813C>T	16.37:g.31122508C>T						BCKDK_ENST00000219794.6_Silent_p.Y271Y|BCKDK_ENST00000287507.3_Silent_p.Y271Y|BCKDK_ENST00000394950.3_Silent_p.Y271Y	p.Y271Y			O14874	BCKD_HUMAN			10	1436	+			271			Histidine kinase.		A8MY43|Q6FGL4|Q96G95|Q96IN5	Silent	SNP	ENST00000394951.1	37	c.813C>T	CCDS10705.1																																																																																				0.602	BCKDK-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000108514.1	NM_005881		8	27	0	0	0	1	0	8	27					T	31122508	C	T	31122508	2	4	432	1	0	0	0	0	0	0	0	1	1361	489	17	3		3	BCKDK	16	31122508	Silent	SNP	C	TCGA-XJ-A9DX-01A-11D-A377-08		31122508	59232245	62	20815											
AHSP	51327	broad.mit.edu	37	chr16	31539920	31539920	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctgcaggagcttcggcaaGagctgaacactctggccaac	10	7	11	13	1	2	2	0	1	2	1	3	3	2	3	1	3	5	4	1	3	3	1			TCGA-XJ-A9DX-01A-11D-A377-08	TCGA-XJ-A9DX-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	955a0861-eff0-463b-908c-a108ddb4b971	c23cbbc8-b66c-4e06-8c99-00590b5ece18	g.chr16:31539920G>T	ENST00000302312.4	+	3	320	c.217G>T	c.(217-219)Gag>Tag	p.E73*	AHSP_ENST00000569954.1_3'UTR	NM_016633.2	NP_057717.1	Q9NZD4	AHSP_HUMAN	alpha hemoglobin stabilizing protein	73					hemoglobin metabolic process (GO:0020027)|hemopoiesis (GO:0030097)|protein folding (GO:0006457)|protein stabilization (GO:0050821)	hemoglobin complex (GO:0005833)	hemoglobin binding (GO:0030492)|unfolded protein binding (GO:0051082)			lung(2)	2						GCTTCGGCAAGAGCTGAACAC	0.572																																						ENST00000302312.4																			0				lung(2)	2						c.(217-219)Gag>Tag		alpha hemoglobin stabilizing protein							71	63	66					16																	31539920		2197	4300	6497	SO:0001587	stop_gained	51327				hemoglobin metabolic process|hemopoiesis|protein folding|protein stabilization	hemoglobin complex	hemoglobin binding|unfolded protein binding	g.chr16:31539920G>T	AF208865	CCDS10716.1	16p11.1	2009-10-07	2009-10-07	2009-10-07	ENSG00000169877	ENSG00000169877			18075	protein-coding gene	gene with protein product	"alpha hemoglobin stabilising protein"	605821	"erythroid associated factor"	ERAF		11231637, 12066189	Standard	XM_005255352		Approved	EDRF	uc002ecj.3	Q9NZD4	OTTHUMG00000132461	ENST00000302312.4:c.217G>T	16.37:g.31539920G>T	ENSP00000307199:p.Glu73*					AHSP_ENST00000569954.1_3'UTR	p.E73*	NM_016633.2	NP_057717.1	Q9NZD4	AHSP_HUMAN			3	320	+			73					Q8TD01	Nonsense_Mutation	SNP	ENST00000302312.4	37	c.217G>T	CCDS10716.1	.	.	.	.	.	.	.	.	.	.	G	11.17	1.560858	0.27827	.	.	ENSG00000169877	ENST00000302312	.	.	.	5.54	2.51	0.30379	.	0.595999	0.15985	N	0.235101	.	.	.	.	.	.	0.58432	D	0.999999	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	5.2483	0.15508	0.1798:0.1693:0.6509:0.0	.	.	.	.	X	73	.	ENSP00000307199:E73X	E	+	1	0	AHSP	31447421	0.609000	0.26975	0.496000	0.27539	0.112000	0.19704	0.445000	0.21677	0.696000	0.31696	-0.140000	0.14226	GAG		0.572	AHSP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255624.1	NM_016633		7	29	1	0	8.12818e-05	1	8.62381e-05	7	29					T	31539920	G	T	31539920	4	4	432	1	0	0	0	0	0	1	0	0	421	943	33	5	223	5	AHSP	16	31539920	Nonsense_Mutation	SNP	G	TCGA-XJ-A9DX-01A-11D-A377-08	417412	31539920	58814833	63	20816											
TOP3A	7156	broad.mit.edu	37	chr17	18181585	18181585	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaggtccaggatctccctcAgggtgtcgtcgcatccgccg	5	9	12	15	4	3	0	2	0	1	0	8	1	5	1	4	3	0	1	4	3	0	0	rs564388683		TCGA-XJ-A9DX-01A-11D-A377-08	TCGA-XJ-A9DX-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	955a0861-eff0-463b-908c-a108ddb4b971	c23cbbc8-b66c-4e06-8c99-00590b5ece18	g.chr17:18181585A>G	ENST00000321105.5	-	18	2445	c.2231T>C	c.(2230-2232)cTg>cCg	p.L744P	TOP3A_ENST00000542570.1_Missense_Mutation_p.L649P|TOP3A_ENST00000540524.1_Missense_Mutation_p.L274P	NM_004618.3	NP_004609.1	Q13472	TOP3A_HUMAN	topoisomerase (DNA) III alpha	744					DNA topological change (GO:0006265)|meiotic nuclear division (GO:0007126)	chromosome (GO:0005694)|nucleus (GO:0005634)|PML body (GO:0016605)	DNA binding (GO:0003677)|DNA topoisomerase type I activity (GO:0003917)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)|skin(6)|stomach(2)|urinary_tract(1)	36						GATCTCCCTCAGGGTGTCGTC	0.592													A|||	1	0.000199681	8e-04	0	5008	,	,		15021	0		0	False		,,,				2504	0					ENST00000321105.5																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)|skin(6)|stomach(2)|urinary_tract(1)	36						c.(2230-2232)cTg>cCg		topoisomerase (DNA) III alpha							35	41	39					17																	18181585		2202	4300	6502	SO:0001583	missense	7156				DNA topological change|meiosis	chromosome|PML body	ATP binding|DNA topoisomerase type I activity|protein binding|zinc ion binding	g.chr17:18181585A>G	U43431	CCDS11194.1	17p12-p11.2	2014-02-18			ENSG00000177302	ENSG00000177302			11992	protein-coding gene	gene with protein product	"zinc finger, GRF-type containing 7"	601243		TOP3		9450867	Standard	NM_004618		Approved	ZGRF7	uc002gsx.1	Q13472	OTTHUMG00000059391	ENST00000321105.5:c.2231T>C	17.37:g.18181585A>G	ENSP00000321636:p.Leu744Pro					TOP3A_ENST00000542570.1_Missense_Mutation_p.L649P|TOP3A_ENST00000540524.1_Missense_Mutation_p.L274P	p.L744P	NM_004618.3	NP_004609.1	Q13472	TOP3A_HUMAN			18	2445	-			744					A8KA61|B4DK80|D3DXC7|Q13473	Missense_Mutation	SNP	ENST00000321105.5	37	c.2231T>C	CCDS11194.1	.	.	.	.	.	.	.	.	.	.	A	12.06	1.823974	0.32237	.	.	ENSG00000177302	ENST00000321105;ENST00000540524;ENST00000542570	T;T;T	0.14766	2.86;2.48;2.86	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	T	0.39279	0.1072	M	0.78049	2.395	0.80722	D	1	D;D	0.71674	0.998;0.998	D;D	0.72075	0.961;0.976	T	0.17440	-1.0369	10	0.49607	T	0.09	-18.7973	15.9892	0.80188	1.0:0.0:0.0:0.0	.	649;744	B4DK80;Q13472	.;TOP3A_HUMAN	P	744;274;649	ENSP00000321636:L744P;ENSP00000446425:L274P;ENSP00000442336:L649P	ENSP00000321636:L744P	L	-	2	0	TOP3A	18122310	1.000000	0.71417	1.000000	0.80357	0.417000	0.31264	7.435000	0.80391	2.182000	0.69389	0.448000	0.29417	CTG		0.592	TOP3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132052.2			18	22	0	0	0	1	0	18	22					G	18181585	A	G	18181585	3	3	432	1	0	0	0	0	1	0	0	0	16364	188	7	4	782	4	TOP3A	17	18181585	Missense_Mutation	SNP	A	TCGA-XJ-A9DX-01A-11D-A377-08		18181585	63013625	64	20817											
CNTNAP1	8506	broad.mit.edu	37	chr17	40836068	40836068	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctataggcataagcgggtggTcaccacggattggggatccg	9	8	15	9	3	1	0	1	0	0	0	2	2	2	2	2	6	1	1	2	6	3	4			TCGA-XJ-A9DX-01A-11D-A377-08	TCGA-XJ-A9DX-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	955a0861-eff0-463b-908c-a108ddb4b971	c23cbbc8-b66c-4e06-8c99-00590b5ece18	g.chr17:40836068T>A	ENST00000264638.4	+	3	401	c.184T>A	c.(184-186)Tca>Aca	p.S62T	CTD-3193K9.4_ENST00000593139.1_RNA|CCR10_ENST00000591765.1_5'Flank|CCR10_ENST00000332438.4_5'Flank|CTD-3193K9.3_ENST00000592440.1_RNA	NM_003632.2	NP_003623.1	P78357	CNTP1_HUMAN	contactin associated protein 1	62	F5/8 type C. {ECO:0000255|PROSITE- ProRule:PRU00081}.				axon cargo transport (GO:0008088)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cytoskeleton organization (GO:0007010)|neuromuscular process controlling balance (GO:0050885)|neuromuscular process controlling posture (GO:0050884)|neuron projection morphogenesis (GO:0048812)|neuronal action potential propagation (GO:0019227)|paranodal junction assembly (GO:0030913)|positive regulation of signal transduction (GO:0009967)|protein localization to paranode region of axon (GO:0002175)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|paranode region of axon (GO:0033270)|voltage-gated potassium channel complex (GO:0008076)	receptor activity (GO:0004872)|SH3 domain binding (GO:0017124)|SH3/SH2 adaptor activity (GO:0005070)			NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|lung(15)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.143)		AAGCGGGTGGTCACCACGGAT	0.592																																						ENST00000264638.4																			0				NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|lung(15)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						c.(184-186)Tca>Aca		contactin associated protein 1							74	84	80					17																	40836068		2203	4300	6503	SO:0001583	missense	8506				axon guidance|cell adhesion	paranode region of axon	receptor activity|receptor binding|SH3 domain binding|SH3/SH2 adaptor activity	g.chr17:40836068T>A	U87223	CCDS11436.1	17q21	2008-07-18				ENSG00000108797			8011	protein-coding gene	gene with protein product	"neurexin 4"	602346		NRXN4		9118959	Standard	NM_003632		Approved	p190, Caspr, CNTNAP	uc002iay.3	P78357		ENST00000264638.4:c.184T>A	17.37:g.40836068T>A	ENSP00000264638:p.Ser62Thr					CTD-3193K9.3_ENST00000592440.1_RNA	p.S62T	NM_003632.2	NP_003623.1	P78357	CNTP1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.143)	3	401	+		Breast(137;0.000143)	62			F5/8 type C.			Missense_Mutation	SNP	ENST00000264638.4	37	c.184T>A	CCDS11436.1	.	.	.	.	.	.	.	.	.	.	T	25.9	4.686631	0.88639	.	.	ENSG00000108797	ENST00000264638	D	0.98400	-4.91	5.42	5.42	0.78866	Coagulation factor 5/8 C-terminal type domain (4);Galactose-binding domain-like (1);	0.000000	0.56097	D	0.000036	D	0.97517	0.9187	L	0.46614	1.455	0.51233	D	0.999916	P	0.48162	0.906	P	0.52646	0.705	D	0.97057	0.9768	10	0.31617	T	0.26	.	15.1306	0.72520	0.0:0.0:0.0:1.0	.	62	P78357	CNTP1_HUMAN	T	62	ENSP00000264638:S62T	ENSP00000264638:S62T	S	+	1	0	CNTNAP1	38089594	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	3.742000	0.55097	2.063000	0.61619	0.379000	0.24179	TCA		0.592	CNTNAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452342.1	NM_003632		51	48	0	0	0	1	0	51	48					A	40836068	T	A	40836068	3	1	432	1	0	0	0	0	1	0	0	0	3646	1667	58	5	194	5	CNTNAP1	17	40836068	Missense_Mutation	SNP	T	TCGA-XJ-A9DX-01A-11D-A377-08	22654483	40836068	40359142	65	20818											
DSC1	1823	broad.mit.edu	37	chr18	28719853	28719853	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tcatcccctaacttctgataCctaatttttagaaatcaaat	14	15	2	10	0	3	2	2	1	1	1	4	2	4	2	3	0	2	0	3	0	6	7			TCGA-XJ-A9DX-01A-11D-A377-08	TCGA-XJ-A9DX-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	955a0861-eff0-463b-908c-a108ddb4b971	c23cbbc8-b66c-4e06-8c99-00590b5ece18	g.chr18:28719853C>A	ENST00000257198.5	-	11	1782	c.1521G>T	c.(1519-1521)agG>agT	p.R507S	RP11-408H20.2_ENST00000581836.1_RNA|DSC1_ENST00000257197.3_Splice_Site_p.R507S	NM_024421.2	NP_077739.1	Q08554	DSC1_HUMAN	desmocollin 1	507	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|gap junction (GO:0005921)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			OV - Ovarian serous cystadenocarcinoma(10;0.00778)			ACTTCTGATACCTAATTTTTA	0.294																																						ENST00000257197.3																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	53						c.e11-1		desmocollin 1							38	38	38					18																	28719853		2202	4296	6498	SO:0001630	splice_region_variant	1823				homophilic cell adhesion	desmosome|gap junction|integral to membrane|membrane fraction	calcium ion binding	g.chr18:28719853C>A	AF293358	CCDS11894.1, CCDS11895.1	18q12.1	2010-01-26			ENSG00000134765	ENSG00000134765		"Cadherins / Major cadherins"	3035	protein-coding gene	gene with protein product		125643				8486729	Standard	NM_024421		Approved	CDHF1	uc002kwn.3	Q08554	OTTHUMG00000131982	ENST00000257198.5:c.1521-1G>T	18.37:g.28719853C>A						DSC1_ENST00000257198.5_Splice_Site_p.R507_splice|RP11-408H20.2_ENST00000581836.1_RNA	p.R507_splice	NM_004948.3	NP_004939.1	Q08554	DSC1_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.00778)		11	1782	-			507			Cadherin 4.		Q9HB01	Splice_Site	SNP	ENST00000257198.5	37	c.1520_splice	CCDS11894.1	.	.	.	.	.	.	.	.	.	.	C	13.11	2.139035	0.37728	.	.	ENSG00000134765	ENST00000257197;ENST00000257198	T;T	0.51325	0.71;0.71	5.59	3.74	0.42951	Cadherin (4);Cadherin-like (1);	0.216900	0.32028	N	0.006690	T	0.44582	0.1300	M	0.63428	1.95	0.41012	D	0.98501	P;P	0.43578	0.811;0.669	B;B	0.43838	0.433;0.266	T	0.40776	-0.9545	10	0.59425	D	0.04	.	4.8564	0.13561	0.0:0.4983:0.228:0.2737	.	507;507	Q08554;Q9HB00	DSC1_HUMAN;.	S	507	ENSP00000257197:R507S;ENSP00000257198:R507S	ENSP00000257197:R507S	R	-	3	2	DSC1	26973851	0.992000	0.36948	0.998000	0.56505	0.735000	0.41995	0.152000	0.16302	0.653000	0.30826	-0.237000	0.12165	AGG		0.294	DSC1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254946.1	NM_004948, NM_024421	Missense_Mutation	15	21	1	0	1.5739e-10	1	1.82572e-10	15	21					A	28719853	C	A	28719853	5	1	432	1	0	0	0	0	0	0	1	0	4765	521	18	5	1227	5	DSC1	18	28719853	Splice_Site	SNP	C	TCGA-XJ-A9DX-01A-11D-A377-08		28719853	49357395	66	20819											
RAVER1	125950	broad.mit.edu	37	chr19	10434100	10434100	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gcatactgcggccggggggcCcaggggcgcagaaggagact	8	3	19	11	3	0	2	0	0	0	2	0	3	0	2	2	7	2	2	2	7	2	1			TCGA-XJ-A9DX-01A-11D-A377-08	TCGA-XJ-A9DX-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	955a0861-eff0-463b-908c-a108ddb4b971	c23cbbc8-b66c-4e06-8c99-00590b5ece18	g.chr19:10434100C>G	ENST00000293677.6	-	4	1031	c.950G>C	c.(949-951)gGg>gCg	p.G317A	CTD-2369P2.12_ENST00000586529.1_5'Flank	NM_133452.2	NP_597709.2	Q8IY67	RAVR1_HUMAN	ribonucleoprotein, PTB-binding 1	300	Interaction with PTBP1. {ECO:0000250}.					cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(3)|large_intestine(1)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	18			OV - Ovarian serous cystadenocarcinoma(20;1.81e-09)|Epithelial(33;3.65e-06)|all cancers(31;8.35e-06)			GCCGGGGGGCCCAGGGGCGCA	0.721																																						ENST00000293677.6																			0				breast(1)|endometrium(3)|large_intestine(1)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	18						c.(949-951)gGg>gCg		ribonucleoprotein, PTB-binding 1							11	15	14					19																	10434100		1973	4157	6130	SO:0001583	missense	125950					cytoplasm|nucleus	nucleotide binding|protein binding|RNA binding	g.chr19:10434100C>G		CCDS45960.1	19p13.2	2013-02-12				ENSG00000161847		"RNA binding motif (RRM) containing"	30296	protein-coding gene	gene with protein product		609950				11853319, 11724819	Standard	NM_133452		Approved	KIAA1978	uc002moa.3	Q8IY67		ENST00000293677.6:c.950G>C	19.37:g.10434100C>G	ENSP00000293677:p.Gly317Ala						p.G317A	NM_133452.2	NP_597709.2	Q8IY67	RAVR1_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;1.81e-09)|Epithelial(33;3.65e-06)|all cancers(31;8.35e-06)		4	1031	-			300			Interaction with PTBP1 (By similarity).		A6NMU4|Q8IY60|Q8TF24	Missense_Mutation	SNP	ENST00000293677.6	37	c.950G>C	CCDS45960.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.209886	0.79240	.	.	ENSG00000161847	ENST00000293677;ENST00000331131	T	0.06068	3.35	4.65	4.65	0.58169	.	0.142365	0.45606	D	0.000357	T	0.09202	0.0227	M	0.68317	2.08	0.51482	D	0.999922	P	0.35456	0.502	B	0.27170	0.077	T	0.05257	-1.0896	10	0.66056	D	0.02	-14.1743	14.9961	0.71433	0.0:1.0:0.0:0.0	.	317	E9PAU2	.	A	317;300	ENSP00000293677:G317A	ENSP00000293677:G317A	G	-	2	0	RAVER1	10295100	1.000000	0.71417	0.888000	0.34837	0.911000	0.54048	7.279000	0.78599	2.142000	0.66516	0.511000	0.50034	GGG		0.721	RAVER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451227.1	NM_133452		9	12	0	0	0	1	0	9	12					G	10434100	C	G	10434100	3	3	432	1	0	0	0	0	1	0	0	0	13094	623	22	5	1360	5	RAVER1	19	10434100	Missense_Mutation	SNP	C	TCGA-XJ-A9DX-01A-11D-A377-08		10434100	48694883	67	20820											
ZNF345	25850	broad.mit.edu	37	chr19	37369039	37369039	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggagtgtgggaaggctttttAtagtggctcaagccttactc	8	13	13	7	0	1	0	1	0	0	0	2	2	1	2	1	4	2	2	1	4	5	5			TCGA-XJ-A9DX-01A-11D-A377-08	TCGA-XJ-A9DX-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	955a0861-eff0-463b-908c-a108ddb4b971	c23cbbc8-b66c-4e06-8c99-00590b5ece18	g.chr19:37369039A>T	ENST00000529555.1	+	2	2095	c.1307A>T	c.(1306-1308)tAt>tTt	p.Y436F	ZNF345_ENST00000589046.1_Missense_Mutation_p.Y436F|ZNF345_ENST00000526123.1_Intron|ZNF345_ENST00000432005.2_Intron|ZNF345_ENST00000420450.1_Missense_Mutation_p.Y436F			Q14585	ZN345_HUMAN	zinc finger protein 345	436					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)|transcription from RNA polymerase III promoter (GO:0006383)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(5)|ovary(2)|prostate(1)	24	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			AAGGCTTTTTATAGTGGCTCA	0.428																																						ENST00000529555.1																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(5)|ovary(2)|prostate(1)	24						c.(1306-1308)tAt>tTt		zinc finger protein 345							78	80	80					19																	37369039		2203	4300	6503	SO:0001583	missense	25850				negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase III promoter|transcription from RNA polymerase II promoter|transcription from RNA polymerase III promoter	nucleus	DNA binding|zinc ion binding	g.chr19:37369039A>T	X78933	CCDS12497.1	19q13.12	2013-01-08			ENSG00000251247	ENSG00000251247		"Zinc fingers, C2H2-type"	16367	protein-coding gene	gene with protein product						7865130	Standard	NM_003419		Approved	HZF10	uc002oey.4	Q14585	OTTHUMG00000048162	ENST00000529555.1:c.1307A>T	19.37:g.37369039A>T	ENSP00000431202:p.Tyr436Phe					ZNF345_ENST00000526123.1_Intron|ZNF345_ENST00000420450.1_Missense_Mutation_p.Y436F|ZNF345_ENST00000589046.1_Missense_Mutation_p.Y436F|ZNF345_ENST00000432005.2_Intron	p.Y436F			Q14585	ZN345_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		2	2095	+	Esophageal squamous(110;0.183)		436						Missense_Mutation	SNP	ENST00000529555.1	37	c.1307A>T	CCDS12497.1	.	.	.	.	.	.	.	.	.	.	A	0.317	-0.964035	0.02249	.	.	ENSG00000251247	ENST00000420450;ENST00000529555;ENST00000344705	T;T	0.07114	3.22;3.22	2.57	-1.02	0.10135	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.02970	0.0088	N	0.03983	-0.305	0.09310	N	1	B	0.12013	0.005	B	0.17979	0.02	T	0.42464	-0.9450	9	0.54805	T	0.06	.	0.3724	0.00381	0.2664:0.2012:0.328:0.2044	.	436	Q14585	ZN345_HUMAN	F	436;436;200	ENSP00000431216:Y436F;ENSP00000431202:Y436F	ENSP00000442320:Y200F	Y	+	2	0	ZNF345	42060879	0.000000	0.05858	0.010000	0.14722	0.370000	0.29829	-2.559000	0.00922	-0.135000	0.11495	-0.132000	0.14878	TAT		0.428	ZNF345-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388258.1			23	85	0	0	0	1	0	23	85					T	37369039	A	T	37369039	3	4	432	1	0	0	0	0	1	0	0	0	17856	449	16	5	1309	5	ZNF345	19	37369039	Missense_Mutation	SNP	A	TCGA-XJ-A9DX-01A-11D-A377-08	26934939	37369039	21759944	68	20821											
SIPA1L3	23094	broad.mit.edu	37	chr19	38643562	38643562	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccagcggcgactcctcttccGgcggcctgaccagccaggag	6	5	13	17	4	1	1	0	1	1	0	3	3	3	2	6	4	2	0	6	4	0	1			TCGA-XJ-A9DX-01A-11D-A377-08	TCGA-XJ-A9DX-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	955a0861-eff0-463b-908c-a108ddb4b971	c23cbbc8-b66c-4e06-8c99-00590b5ece18	g.chr19:38643562G>A	ENST00000222345.6	+	13	4125	c.3616G>A	c.(3616-3618)Ggc>Agc	p.G1206S		NM_015073.1	NP_055888.1	O60292	SI1L3_HUMAN	signal-induced proliferation-associated 1 like 3	1206					hematopoietic progenitor cell differentiation (GO:0002244)|regulation of small GTPase mediated signal transduction (GO:0051056)	extracellular space (GO:0005615)	GTPase activator activity (GO:0005096)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			CTCCTCTTCCGGCGGCCTGAC	0.667																																						ENST00000222345.6																			0				NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59						c.(3616-3618)Ggc>Agc		signal-induced proliferation-associated 1 like 3							78	75	76					19																	38643562		2203	4300	6503	SO:0001583	missense	23094				regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity	g.chr19:38643562G>A	AB011117	CCDS33007.1	19q13.13	2008-02-05			ENSG00000105738	ENSG00000105738			23801	protein-coding gene	gene with protein product							Standard	XM_005258671		Approved	KIAA0545	uc002ohk.3	O60292	OTTHUMG00000073727	ENST00000222345.6:c.3616G>A	19.37:g.38643562G>A	ENSP00000222345:p.Gly1206Ser						p.G1206S	NM_015073.1	NP_055888.1	O60292	SI1L3_HUMAN	Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)		13	4125	+			1206					Q2TV87	Missense_Mutation	SNP	ENST00000222345.6	37	c.3616G>A	CCDS33007.1	.	.	.	.	.	.	.	.	.	.	G	2.691	-0.273106	0.05716	.	.	ENSG00000105738	ENST00000222345	T	0.42513	0.97	5.03	5.03	0.67393	.	0.544905	0.16262	N	0.222172	T	0.27697	0.0681	L	0.33485	1.01	0.33533	D	0.593832	B	0.18166	0.026	B	0.11329	0.006	T	0.20240	-1.0281	10	0.02654	T	1	-23.628	11.0499	0.47880	0.0:0.0:0.8145:0.1855	.	1206	O60292	SI1L3_HUMAN	S	1206	ENSP00000222345:G1206S	ENSP00000222345:G1206S	G	+	1	0	SIPA1L3	43335402	0.992000	0.36948	0.974000	0.42286	0.412000	0.31113	3.418000	0.52721	2.342000	0.79632	0.460000	0.39030	GGC		0.667	SIPA1L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000156294.2	XM_032278		29	65	0	0	0	1	0	29	65					A	38643562	G	A	38643562	3	1	432	1	0	0	0	0	1	0	0	0	14331	1116	39	2	3658	2	SIPA1L3	19	38643562	Missense_Mutation	SNP	G	TCGA-XJ-A9DX-01A-11D-A377-08	1274523	38643562	20485421	69	20822											
ZNF324	25799	broad.mit.edu	37	chr19	58983378	58983378	+	Frame_Shift_Del	DEL	A	A	-																															agaggatccataccggcgagAagaccgtccggcgatccagg																										TCGA-XJ-A9DX-01A-11D-A377-08	TCGA-XJ-A9DX-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	955a0861-eff0-463b-908c-a108ddb4b971	c23cbbc8-b66c-4e06-8c99-00590b5ece18	g.chr19:58983378delA	ENST00000536459.2	+	4	2228	c.1519delA	c.(1519-1521)aagfs	p.K507fs	ZNF446_ENST00000596341.1_5'Flank|ZNF324_ENST00000535298.1_Frame_Shift_Del_p.K284fs|ZNF324_ENST00000196482.3_Frame_Shift_Del_p.K507fs			O75467	Z324A_HUMAN	zinc finger protein 324	507					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(2)|prostate(2)|urinary_tract(2)	16		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179)		TACCGGCGAGAAGACCGTCCG	0.667																																						ENST00000536459.2																			0				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(2)|prostate(2)|urinary_tract(2)	16						c.(1519-1521)agfs		zinc finger protein 324							33	36	35					19																	58983378		2203	4298	6501	SO:0001589	frameshift_variant	25799				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58983378delA	AF060503	CCDS12981.1	19q13.43	2013-01-08				ENSG00000083812		"Zinc fingers, C2H2-type", "-"	14096	protein-coding gene	gene with protein product							Standard	NM_014347		Approved	ZF5128, ZNF324A	uc002qsw.2	O75467		ENST00000536459.2:c.1519delA	19.37:g.58983378delA	ENSP00000444812:p.Lys507fs					ZNF324_ENST00000196482.3_Frame_Shift_Del_p.K507fs|ZNF324_ENST00000535298.1_Frame_Shift_Del_p.K284fs	p.K507fs			O75467	Z324A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179)	4	2228	+		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)	507					B3KRX1	Frame_Shift_Del	DEL	ENST00000536459.2	37	c.1519delA	CCDS12981.1																																																																																				0.667	ZNF324-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467044.1	NM_014347		9	26						9	26	---	---	---	---	-	58983378	A	-	58983378	7	5	432	1	0	1	0	1	0	0	0	0	17841	247	9	0	1529	0	ZNF324	19	58983378	Frame_Shift_Del	DEL	A	TCGA-XJ-A9DX-01A-11D-A377-08	20339816	58983378	145605	70	20823											
SNRPB2	6629	broad.mit.edu	37	chr20	16712917	16712917	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcctttgtcatatttaaggAactgggctcatccacaaatg	11	12	9	9	0	2	0	2	0	0	0	3	1	3	1	2	3	1	1	2	3	4	4			TCGA-XJ-A9DX-01A-11D-A377-08	TCGA-XJ-A9DX-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	955a0861-eff0-463b-908c-a108ddb4b971	c23cbbc8-b66c-4e06-8c99-00590b5ece18	g.chr20:16712917A>G	ENST00000246071.6	+	3	389	c.173A>G	c.(172-174)gAa>gGa	p.E58G	RP4-705D16.3_ENST00000425939.1_RNA|SNRPB2_ENST00000377943.5_Missense_Mutation_p.E58G|SNRPB2_ENST00000478522.1_3'UTR	NM_003092.4	NP_003083.1	P08579	RU2B_HUMAN	small nuclear ribonucleoprotein polypeptide B	58	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U2 snRNP (GO:0005686)	nucleotide binding (GO:0000166)|snRNA binding (GO:0017069)			large_intestine(2)|lung(2)|urinary_tract(1)	5						ATATTTAAGGAACTGGGCTCA	0.408																																						ENST00000246071.6																			0				large_intestine(2)|lung(2)|urinary_tract(1)	5						c.(172-174)gAa>gGa		small nuclear ribonucleoprotein polypeptide B							135	129	131					20																	16712917		2203	4300	6503	SO:0001583	missense	6629					catalytic step 2 spliceosome|nucleoplasm|U2 snRNP	nucleotide binding|protein binding|RNA binding	g.chr20:16712917A>G		CCDS13123.1	20p12.1	2013-02-12	2010-07-07		ENSG00000125870	ENSG00000125870		"RNA binding motif (RRM) containing"	11155	protein-coding gene	gene with protein product		603520	"small nuclear ribonucleoprotein polypeptide B2", "small nuclear ribonucleoprotein polypeptide B''"			2951739	Standard	NM_198220		Approved	Msl1	uc002wpi.2	P08579	OTTHUMG00000031933	ENST00000246071.6:c.173A>G	20.37:g.16712917A>G	ENSP00000246071:p.Glu58Gly					SNRPB2_ENST00000377943.5_Missense_Mutation_p.E58G|SNRPB2_ENST00000478522.1_3'UTR	p.E58G	NM_003092.4	NP_003083.1	P08579	RU2B_HUMAN			3	389	+			58			RRM 1.		B2R7J3|D3DW21|Q9UJD4	Missense_Mutation	SNP	ENST00000246071.6	37	c.173A>G	CCDS13123.1	.	.	.	.	.	.	.	.	.	.	A	30	5.049808	0.93740	.	.	ENSG00000125870	ENST00000377943;ENST00000246071	T;T	0.06142	3.34;3.34	5.75	5.75	0.90469	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	T	0.28566	0.0707	M	0.85373	2.75	0.80722	D	1	D	0.67145	0.996	D	0.74674	0.984	T	0.03202	-1.1061	10	0.66056	D	0.02	-24.1121	14.6186	0.68569	1.0:0.0:0.0:0.0	.	58	P08579	RU2B_HUMAN	G	58	ENSP00000367178:E58G;ENSP00000246071:E58G	ENSP00000246071:E58G	E	+	2	0	SNRPB2	16660917	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	9.268000	0.95675	2.193000	0.70182	0.528000	0.53228	GAA		0.408	SNRPB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078110.1	NM_003092		28	66	0	0	0	1	0	28	66					G	16712917	A	G	16712917	3	3	432	1	0	0	0	0	1	0	0	0	14862	246	9	4	179	4	SNRPB2	20	16712917	Missense_Mutation	SNP	A	TCGA-XJ-A9DX-01A-11D-A377-08		16712917	46312603	71	20824											
C20orf134	170487	broad.mit.edu	37	chr20	32255490	32255490	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgcgggatctgctggtggcgGcgaaccctgacctcttgcag	5	9	15	12	3	2	1	0	1	2	0	2	3	2	2	2	4	4	2	2	4	1	1			TCGA-XJ-A9DX-01A-11D-A377-08	TCGA-XJ-A9DX-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	955a0861-eff0-463b-908c-a108ddb4b971	c23cbbc8-b66c-4e06-8c99-00590b5ece18	g.chr20:32255490G>C	ENST00000330271.4	+	1	1187	c.187G>C	c.(187-189)Gcg>Ccg	p.A63P	NECAB3_ENST00000375238.4_Intron|NECAB3_ENST00000246190.6_Intron	NM_001024675.1	NP_001019846.1	Q5JWF8	ACL10_HUMAN	actin-like 10	63																	GCTGGTGGCGGCGAACCCTGA	0.662																																						ENST00000330271.4																			0											c.(187-189)Gcg>Ccg		actin-like 10							34	27	29					20																	32255490		2199	4294	6493	SO:0001583	missense	170487							g.chr20:32255490G>C	AL121906	CCDS33463.1	20q11.22	2011-11-24	2011-11-24	2011-11-24	ENSG00000182584	ENSG00000182584			16127	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 134"	C20orf134			Standard	NM_001024675		Approved		uc002wzt.3	Q5JWF8	OTTHUMG00000032262	ENST00000330271.4:c.187G>C	20.37:g.32255490G>C	ENSP00000329647:p.Ala63Pro					NECAB3_ENST00000246190.6_Intron|NECAB3_ENST00000375238.4_Intron	p.A63P	NM_001024675.1	NP_001019846.1	Q5JWF8	CT134_HUMAN			1	1187	+			63					B9EH76	Missense_Mutation	SNP	ENST00000330271.4	37	c.187G>C	CCDS33463.1	.	.	.	.	.	.	.	.	.	.	G	13.84	2.357409	0.41801	.	.	ENSG00000182584	ENST00000330271	D	0.94376	-3.41	4.9	2.92	0.33932	.	0.504964	0.16515	N	0.211057	D	0.93808	0.8020	L	0.49455	1.56	0.18873	N	0.999986	P	0.51933	0.949	P	0.59424	0.857	D	0.86699	0.1928	10	0.87932	D	0	-8.2021	8.8975	0.35474	0.0798:0.0:0.7723:0.1479	.	63	Q5JWF8	CT134_HUMAN	P	63	ENSP00000329647:A63P	ENSP00000329647:A63P	A	+	1	0	C20orf134	31719151	0.876000	0.30132	0.051000	0.19133	0.008000	0.06430	2.189000	0.42621	0.642000	0.30620	0.561000	0.74099	GCG		0.662	ACTL10-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078713.1			6	15	0	0	0	1	0	6	15					C	32255490	G	C	32255490	3	2	432	1	0	0	0	0	1	0	0	0	2087	1203	42	5	189	5	C20orf134	20	32255490	Missense_Mutation	SNP	G	TCGA-XJ-A9DX-01A-11D-A377-08	15542573	32255490	30770030	72	20825											
MICAL3	57553	broad.mit.edu	37	chr22	18300931	18300932	+	Frame_Shift_Ins	INS	-	-	G																															ggggggctgagcaggctcccINSgggggggccgcatccaggtg																								rs574673863|rs373213687		TCGA-XJ-A9DX-01A-11D-A377-08	TCGA-XJ-A9DX-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	955a0861-eff0-463b-908c-a108ddb4b971	c23cbbc8-b66c-4e06-8c99-00590b5ece18	g.chr22:18300931_18300932insG	ENST00000441493.2	-	26	4847_4848	c.4495_4496insC	c.(4495-4497)cggfs	p.R1499fs	MICAL3_ENST00000580469.1_5'Flank	NM_015241.2	NP_056056.2	Q7RTP6	MICA3_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 3	1499	Pro-rich.				actin filament depolymerization (GO:0030042)|cytoskeleton organization (GO:0007010)|exocytosis (GO:0006887)|oxidation-reduction process (GO:0055114)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	actin binding (GO:0003779)|FAD binding (GO:0071949)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen (GO:0016709)|zinc ion binding (GO:0008270)			large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4		all_epithelial(15;0.198)		Lung(27;0.0427)		AGCAGGCTCCCGGGGGGGCCGC	0.678																																						ENST00000441493.2																			0				large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4						c.(4495-4497)ggafs		microtubule associated monooxygenase, calponin and LIM domain containing 3																																				SO:0001589	frameshift_variant	57553					cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding	g.chr22:18300931_18300932insG	AB037785	CCDS46659.1, CCDS46660.1, CCDS46661.1	22q11.21	2013-03-26	2013-03-26		ENSG00000243156	ENSG00000243156			24694	protein-coding gene	gene with protein product		608882				12110185	Standard	NM_015241		Approved	KIAA0819	uc002zng.4	Q7RTP6	OTTHUMG00000150067	ENST00000441493.2:c.4496dupC	22.37:g.18300938_18300938dupG	ENSP00000416015:p.Arg1499fs						p.G1499fs	NM_015241.2	NP_056056.2	Q7RTP6	MICA3_HUMAN		Lung(27;0.0427)	26	4847_4848	-		all_epithelial(15;0.198)	1499			Pro-rich.		B2RXJ5|E9PEF0|O94909|Q5U4P4|Q6ICK4|Q96DF2|Q9P2I3	Frame_Shift_Ins	INS	ENST00000441493.2	37	c.4495_4496insC	CCDS46659.1																																																																																				0.678	MICAL3-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447351.1			2	4						2	4	---	---	---	---	G	18300932	-	G	18300931	7	5	432	1	0	1	1	0	0	0	0	0	9571	652	23	0	1540	0	MICAL3	22	18300931	Frame_Shift_Ins	INS	-	TCGA-XJ-A9DX-01A-11D-A377-08		18300931	33003635	73	20826											
COL4A6	1288	broad.mit.edu	37	chrX	107413200	107413201	+	Frame_Shift_Ins	INS	-	-	C																															tgccatgggtacccttggtgINScccggaagcccattcagtcc																										TCGA-XJ-A9DX-01A-11D-A377-08	TCGA-XJ-A9DX-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	955a0861-eff0-463b-908c-a108ddb4b971	c23cbbc8-b66c-4e06-8c99-00590b5ece18	g.chrX:107413200_107413201insC	ENST00000372216.4	-	36	3642_3643	c.3542_3543insG	c.(3541-3543)ggcfs	p.G1181fs	COL4A6_ENST00000545689.1_Intron|COL4A6_ENST00000394872.2_Frame_Shift_Ins_p.G1181fs|COL4A6_ENST00000538570.1_Intron|COL4A6_ENST00000334504.7_Frame_Shift_Ins_p.G1180fs	NM_001847.2	NP_001838.2	Q14031	CO4A6_HUMAN	collagen, type IV, alpha 6	1181	Triple-helical region.				cell adhesion (GO:0007155)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	92						TACCCTTGGTGCCCGGAAGCCC	0.535									Alport syndrome with Diffuse Leiomyomatosis																												Melanoma(87;1895 1945 2589 7165)	ENST00000334504.7																			0				breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	92						c.(3538-3540)gacfs		collagen, type IV, alpha 6																																				SO:0001589	frameshift_variant	1288	Alport syndrome with Diffuse Leiomyomatosis	Familial Cancer Database		cell adhesion|extracellular matrix organization	collagen type IV	extracellular matrix structural constituent|protein binding	g.chrX:107413200_107413201insC	U04845	CCDS14541.1, CCDS14542.1, CCDS76008.1, CCDS76009.1, CCDS76010.1	Xq22	2014-09-17			ENSG00000197565	ENSG00000197565		"Collagens"	2208	protein-coding gene	gene with protein product		303631				8356449	Standard	NM_033641		Approved		uc004env.4	Q14031	OTTHUMG00000022179	ENST00000372216.4:c.3543dupG	X.37:g.107413203_107413203dupC	ENSP00000361290:p.Gly1181fs					COL4A6_ENST00000372216.4_Frame_Shift_Ins_p.D1181fs|COL4A6_ENST00000545689.1_Intron|COL4A6_ENST00000394872.2_Frame_Shift_Ins_p.D1181fs|COL4A6_ENST00000538570.1_Intron	p.D1180fs	NM_033641.2	NP_378667.1	Q14031	CO4A6_HUMAN			36	3772_3773	-			1181			Triple-helical region.		Q12823|Q14053|Q5JYH6|Q5JYH8|Q9NQM5|Q9NTX3|Q9UJ76|Q9UMG6|Q9Y4L4	Frame_Shift_Ins	INS	ENST00000372216.4	37	c.3539_3540insG	CCDS14541.1																																																																																				0.535	COL4A6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057875.2			2	4						2	4	---	---	---	---	C	107413201	-	C	107413200	7	5	432	1	0	1	1	0	0	0	0	0	3695	1306	46	0	1572	0	COL4A6	23	107413200	Frame_Shift_Ins	INS	-	TCGA-XJ-A9DX-01A-11D-A377-08		107413200	47857360	74	20827											
SLITRK2	84631	broad.mit.edu	37	chrX	144904390	144904390	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tacaattacatcagtgccatCgaggctggggcattcagcaa	12	9	10	10	1	2	0	2	0	0	0	3	1	2	0	1	3	4	3	1	3	4	3			TCGA-XJ-A9DX-01A-11D-A377-08	TCGA-XJ-A9DX-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	955a0861-eff0-463b-908c-a108ddb4b971	c23cbbc8-b66c-4e06-8c99-00590b5ece18	g.chrX:144904390C>T	ENST00000370490.1	+	1	4702	c.447C>T	c.(445-447)atC>atT	p.I149I	SLITRK2_ENST00000434188.2_Silent_p.I149I|SLITRK2_ENST00000447897.2_Silent_p.I149I|SLITRK2_ENST00000428560.2_Silent_p.I149I|SLITRK2_ENST00000413937.2_Silent_p.I149I			Q9H156	SLIK2_HUMAN	SLIT and NTRK-like family, member 2	149					axonogenesis (GO:0007409)	integral component of membrane (GO:0016021)				NS(1)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(17)|lung(40)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	86	Acute lymphoblastic leukemia(192;6.56e-05)					TCAGTGCCATCGAGGCTGGGG	0.498																																						ENST00000370490.1																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(17)|lung(40)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	86						c.(445-447)atC>atT		SLIT and NTRK-like family, member 2							122	87	99					X																	144904390		2203	4300	6503	SO:0001819	synonymous_variant	84631					integral to membrane		g.chrX:144904390C>T	Y19205	CCDS14680.1	Xq27.3	2008-02-05	2004-03-11		ENSG00000185985	ENSG00000185985			13449	protein-coding gene	gene with protein product		300561	"slit-like 1 (Drosophila)"	SLITL1		11347906, 14557068	Standard	NM_032539		Approved	KIAA1854, CXorf2	uc011mwr.2	Q9H156	OTTHUMG00000022595	ENST00000370490.1:c.447C>T	X.37:g.144904390C>T						SLITRK2_ENST00000413937.2_Silent_p.I149I|SLITRK2_ENST00000447897.2_Silent_p.I149I|SLITRK2_ENST00000434188.2_Silent_p.I149I|SLITRK2_ENST00000428560.2_Silent_p.I149I	p.I149I			Q9H156	SLIK2_HUMAN			1	4702	+	Acute lymphoblastic leukemia(192;6.56e-05)		149					A8K117|Q2KHN3|Q5JXB1|Q8NBC7|Q96JH3	Silent	SNP	ENST00000370490.1	37	c.447C>T	CCDS14680.1																																																																																				0.498	SLITRK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058633.1	NM_032539		17	11	0	0	0	1	0	17	11					T	144904390	C	T	144904390	2	4	432	1	0	0	0	0	0	0	0	1	14743	874	31	2		2	SLITRK2	23	144904390	Silent	SNP	C	TCGA-XJ-A9DX-01A-11D-A377-08	37491190	144904390	10366170	75	20828											
GPR50	9248	broad.mit.edu	37	chrX	150349743	150349743	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgacagtgacctccctgagtCggcctctagccctgccgctg	5	8	11	17	3	1	2	0	2	1	0	3	3	2	2	5	1	2	1	5	1	1	1			TCGA-XJ-A9DX-01A-11D-A377-08	TCGA-XJ-A9DX-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	955a0861-eff0-463b-908c-a108ddb4b971	c23cbbc8-b66c-4e06-8c99-00590b5ece18	g.chrX:150349743C>A	ENST00000218316.3	+	2	1757	c.1688C>A	c.(1687-1689)tCg>tAg	p.S563*	AF003625.3_ENST00000602313.1_lincRNA	NM_004224.3	NP_004215.2	Q13585	MTR1L_HUMAN	G protein-coupled receptor 50	563	Pro-rich.				cell-cell signaling (GO:0007267)|G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)|identical protein binding (GO:0042802)|melatonin receptor activity (GO:0008502)			breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	38	Acute lymphoblastic leukemia(192;6.56e-05)					CTCCCTGAGTCGGCCTCTAGC	0.622																																						ENST00000218316.3																			0				breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	38						c.(1687-1689)tCg>tAg		G protein-coupled receptor 50																																				SO:0001587	stop_gained	9248				cell-cell signaling	integral to plasma membrane	melatonin receptor activity	g.chrX:150349743C>A	U52219	CCDS44012.1	Xq28	2012-08-21			ENSG00000102195	ENSG00000102195		"GPCR / Class A : Orphans"	4506	protein-coding gene	gene with protein product		300207				9933574, 18400093	Standard	NM_004224		Approved	H9, Mel1c	uc010ntg.2	Q13585	OTTHUMG00000024166	ENST00000218316.3:c.1688C>A	X.37:g.150349743C>A	ENSP00000218316:p.Ser563*						p.S563*	NM_004224.3	NP_004215.2	Q13585	MTR1L_HUMAN			2	1757	+	Acute lymphoblastic leukemia(192;6.56e-05)		563			Pro-rich.		Q0VGG3|Q3ZAR0	Nonsense_Mutation	SNP	ENST00000218316.3	37	c.1688C>A	CCDS44012.1	.	.	.	.	.	.	.	.	.	.	C	19.37	3.813864	0.70912	.	.	ENSG00000102195	ENST00000218316	.	.	.	3.07	2.21	0.28008	.	1.301610	0.05663	N	0.587234	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-0.4415	7.5884	0.28006	0.0:0.8628:0.0:0.1372	.	.	.	.	X	563	.	ENSP00000218316:S563X	S	+	2	0	GPR50	150100401	0.000000	0.05858	0.001000	0.08648	0.010000	0.07245	0.659000	0.24994	0.698000	0.31739	0.292000	0.19580	TCG		0.622	GPR50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060874.1	NM_004224		50	8	1	0	4.64027e-19	1	5.76719e-19	50	8					A	150349743	C	A	150349743	4	1	432	1	0	0	0	0	0	1	0	0	6697	893	31	5	1694	5	GPR50	23	150349743	Nonsense_Mutation	SNP	C	TCGA-XJ-A9DX-01A-11D-A377-08	5445353	150349743	4920817	76	20829											
CREB3L4	148327	broad.mit.edu	37	chr1	153941929	153941929	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccccagtgccctgtacaaccCtggtgagtcttggtgtcagc	6	10	11	14	0	2	1	1	1	1	0	2	1	2	1	4	2	4	1	4	2	2	2			TCGA-XK-AAIR-01A-11D-A41K-08	TCGA-XK-AAIR-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab4e6321-19ec-44d9-aa53-2391911d92d0	bba1d69c-c2b1-4f84-82c8-b54699187c99	g.chr1:153941929C>G	ENST00000368607.3	+	4	807	c.541C>G	c.(541-543)Ctg>Gtg	p.L181V	CREB3L4_ENST00000368603.1_Missense_Mutation_p.L181V|CREB3L4_ENST00000405694.3_Missense_Mutation_p.L34V|CREB3L4_ENST00000271889.4_Missense_Mutation_p.L181V|CREB3L4_ENST00000468845.1_3'UTR|CREB3L4_ENST00000368601.1_Missense_Mutation_p.L181V|RP11-422P24.10_ENST00000608147.1_RNA|CREB3L4_ENST00000368600.3_Missense_Mutation_p.L161V|SLC39A1_ENST00000310483.6_5'Flank	NM_001255978.1|NM_001255980.1|NM_130898.3	NP_001242907.1|NP_001242909.1|NP_570968.1	Q8TEY5	CR3L4_HUMAN	cAMP responsive element binding protein 3-like 4	181					response to unfolded protein (GO:0006986)|spermatogenesis (GO:0007283)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|prostate(3)	13	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			CTGTACAACCCTGGTGAGTCT	0.517																																						ENST00000368607.3																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|prostate(3)	13						c.(541-543)Ctg>Gtg		cAMP responsive element binding protein 3-like 4							95	81	85					1																	153941929		2203	4300	6503	SO:0001583	missense	148327				response to unfolded protein	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr1:153941929C>G	AF394167	CCDS1056.1, CCDS58029.1	1q21.2	2013-01-10			ENSG00000143578	ENSG00000143578		"basic leucine zipper proteins"	18854	protein-coding gene	gene with protein product		607138					Standard	NM_130898		Approved	AIbZIP, CREB4, CREB3, hJAL, ATCE1	uc001fdr.3	Q8TEY5	OTTHUMG00000037159	ENST00000368607.3:c.541C>G	1.37:g.153941929C>G	ENSP00000357596:p.Leu181Val					CREB3L4_ENST00000368601.1_Missense_Mutation_p.L181V|CREB3L4_ENST00000405694.3_Missense_Mutation_p.L34V|CREB3L4_ENST00000468845.1_3'UTR|CREB3L4_ENST00000271889.4_Missense_Mutation_p.L181V|CREB3L4_ENST00000368600.3_Missense_Mutation_p.L161V|CREB3L4_ENST00000368603.1_Missense_Mutation_p.L181V	p.L181V	NM_001255978.1|NM_001255980.1|NM_130898.3	NP_001242907.1|NP_001242909.1|NP_570968.1	Q8TEY5	CR3L4_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.151)		4	807	+	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		181					D3DV62|Q5T4L0|Q86YW6	Missense_Mutation	SNP	ENST00000368607.3	37	c.541C>G	CCDS1056.1	.	.	.	.	.	.	.	.	.	.	C	13.69	2.311919	0.40895	.	.	ENSG00000143578	ENST00000405694;ENST00000449724;ENST00000368607;ENST00000271889;ENST00000368601;ENST00000368603;ENST00000368600;ENST00000431292	T;T;T;T;T;T;T;T	0.78126	-1.15;-0.09;-0.16;-0.16;0.86;-0.16;-0.14;0.45	4.9	3.98	0.46160	.	0.449872	0.19862	N	0.104402	T	0.49490	0.1560	L	0.52364	1.645	0.30838	N	0.735969	B;B	0.27853	0.084;0.191	B;B	0.25506	0.042;0.061	T	0.31916	-0.9926	10	0.09843	T	0.71	.	10.6496	0.45640	0.1898:0.8102:0.0:0.0	.	161;181	Q5T4L0;Q8TEY5	.;CR3L4_HUMAN	V	34;161;181;181;181;181;161;181	ENSP00000385104:L34V;ENSP00000391847:L161V;ENSP00000357596:L181V;ENSP00000271889:L181V;ENSP00000357590:L181V;ENSP00000357592:L181V;ENSP00000357589:L161V;ENSP00000402308:L181V	ENSP00000271889:L181V	L	+	1	2	CREB3L4	152208553	0.931000	0.31567	0.971000	0.41717	0.835000	0.47333	1.663000	0.37429	1.276000	0.44395	0.561000	0.74099	CTG		0.517	CREB3L4-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000090291.1	NM_130898		5	39	0	0	0	1	0	5	39					G	153941929	C	G	153941929	3	3	433	1	0	0	0	0	1	0	0	0	3859	680	24	5	551	5	CREB3L4	1	153941929	Missense_Mutation	SNP	C	TCGA-XK-AAIR-01A-11D-A41K-08		153941929	95308692	1	20830											
SPTA1	6708	broad.mit.edu	37	chr1	158592846	158592846	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cttccagcaactgttcccagCgcttcagcagagcggcataa	10	8	9	14	2	1	1	1	0	0	1	3	1	3	1	2	1	5	5	2	1	2	4	rs199993378		TCGA-XK-AAIR-01A-11D-A41K-08	TCGA-XK-AAIR-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab4e6321-19ec-44d9-aa53-2391911d92d0	bba1d69c-c2b1-4f84-82c8-b54699187c99	g.chr1:158592846C>T	ENST00000368147.4	-	43	6227	c.6047G>A	c.(6046-6048)cGc>cAc	p.R2016H		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	2016					actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)	p.R2016H(1)		NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					CTGTTCCCAGCGCTTCAGCAG	0.478																																						ENST00000368148.3																			1	Substitution - Missense(1)	p.R2016H(1)	lung(1)	NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307						c.(6046-6048)cGc>cAc		spectrin, alpha, erythrocytic 1 (elliptocytosis 2)		C	HIS/ARG	3,3867		0,3,1932	231	230	231		6047	-1.5	0.6	1		231	1,8273		0,1,4136	yes	missense	SPTA1	NM_003126.2	29	0,4,6068	TT,TC,CC		0.0121,0.0775,0.0329	benign	2016/2420	158592846	4,12140	1935	4137	6072	SO:0001583	missense	6708				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	g.chr1:158592846C>T	M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"EF-hand domain containing"	11272	protein-coding gene	gene with protein product	"elliptocytosis 2"	182860	"spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.6047G>A	1.37:g.158592846C>T	ENSP00000357129:p.Arg2016His					SPTA1_ENST00000461624.1_5'UTR|SPTA1_ENST00000368147.3_Missense_Mutation_p.R2013H	p.R2016H	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN			43	6227	-	all_hematologic(112;0.0378)		2016					Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Missense_Mutation	SNP	ENST00000368147.4	37	c.6047G>A	CCDS41423.1	.	.	.	.	.	.	.	.	.	.	C	10.22	1.288856	0.23478	7.75E-4	1.21E-4	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.40476	1.03;1.03	4.78	-1.49	0.08718	.	.	.	.	.	T	0.17619	0.0423	L	0.56340	1.77	0.38903	D	0.957367	P	0.47106	0.89	B	0.41723	0.365	T	0.10132	-1.0643	9	0.40728	T	0.16	.	5.6431	0.17575	0.1234:0.5367:0.0:0.3399	.	2016	P02549	SPTA1_HUMAN	H	2016;2013	ENSP00000357130:R2016H;ENSP00000357129:R2013H	ENSP00000357129:R2013H	R	-	2	0	SPTA1	156859470	0.999000	0.42202	0.633000	0.29310	0.020000	0.10135	0.741000	0.26202	-0.360000	0.08138	-0.136000	0.14681	CGC		0.478	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126		21	174	0	0	0	1	0	21	174					T	158592846	C	T	158592846	3	4	433	1	0	0	0	0	1	0	0	0	15115	768	27	1	1252	1	SPTA1	1	158592846	Missense_Mutation	SNP	C	TCGA-XK-AAIR-01A-11D-A41K-08	4650917	158592846	90657775	2	20831											
LHX9	56956	broad.mit.edu	37	chr1	197896792	197896792	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caccctcgcagaagaccaagCgcatgcgaacctctttcaag	12	6	8	15	3	2	2	1	0	1	2	3	3	2	2	3	0	3	2	3	0	4	1			TCGA-XK-AAIR-01A-11D-A41K-08	TCGA-XK-AAIR-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab4e6321-19ec-44d9-aa53-2391911d92d0	bba1d69c-c2b1-4f84-82c8-b54699187c99	g.chr1:197896792C>A	ENST00000367387.4	+	4	1230	c.805C>A	c.(805-807)Cgc>Agc	p.R269S	LHX9_ENST00000561173.1_Missense_Mutation_p.R275S|LHX9_ENST00000367390.3_Missense_Mutation_p.R260S|LHX9_ENST00000337020.2_Missense_Mutation_p.R269S|LHX9_ENST00000367391.1_Missense_Mutation_p.R260S	NM_020204.2	NP_064589.2	Q9NQ69	LHX9_HUMAN	LIM homeobox 9	269					cell proliferation (GO:0008283)|female gonad development (GO:0008585)|gonad morphogenesis (GO:0035262)|male gonad development (GO:0008584)|motor neuron axon guidance (GO:0008045)|negative regulation of transcription, DNA-templated (GO:0045892)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			endometrium(8)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(2)|skin(1)|stomach(1)	35						GAAGACCAAGCGCATGCGAAC	0.527																																						ENST00000367390.3																			0				endometrium(8)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(2)|skin(1)|stomach(1)	35						c.(778-780)Cgc>Agc		LIM homeobox 9							259	254	256					1																	197896792		2203	4300	6503	SO:0001583	missense	56956				motor axon guidance|negative regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding	g.chr1:197896792C>A	AJ277915	CCDS1393.1, CCDS30962.1	1q31.1	2011-06-20			ENSG00000143355	ENSG00000143355		"Homeoboxes / LIM class"	14222	protein-coding gene	gene with protein product		606066					Standard	NM_020204		Approved		uc001guk.1	Q9NQ69	OTTHUMG00000035656	ENST00000367387.4:c.805C>A	1.37:g.197896792C>A	ENSP00000356357:p.Arg269Ser					LHX9_ENST00000367391.1_Missense_Mutation_p.R260S|LHX9_ENST00000561173.1_Missense_Mutation_p.R275S|LHX9_ENST00000367387.4_Missense_Mutation_p.R269S|LHX9_ENST00000337020.2_Missense_Mutation_p.R269S	p.R260S	NM_001014434.1	NP_001014434.1	Q9NQ69	LHX9_HUMAN			5	805	+			269					Q5VUE2|Q5VUE3|Q5VUE6|Q86UH2|Q9BYU6|Q9NQ70	Missense_Mutation	SNP	ENST00000367387.4	37	c.778C>A	CCDS1393.1	.	.	.	.	.	.	.	.	.	.	C	24.5	4.538541	0.85917	.	.	ENSG00000143355	ENST00000367391;ENST00000367390;ENST00000337020;ENST00000367387	D;D;D;D	0.96940	-4.18;-4.18;-4.18;-4.18	5.88	5.88	0.94601	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	D	0.98890	0.9624	H	0.96333	3.805	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.99050	1.0827	10	0.66056	D	0.02	.	20.2441	0.98394	0.0:1.0:0.0:0.0	.	269;260;260	Q9NQ69;Q9NQ69-3;Q9NQ69-2	LHX9_HUMAN;.;.	S	260;260;269;269	ENSP00000356361:R260S;ENSP00000356360:R260S;ENSP00000337969:R269S;ENSP00000356357:R269S	ENSP00000337969:R269S	R	+	1	0	LHX9	196163415	1.000000	0.71417	1.000000	0.80357	0.421000	0.31385	7.487000	0.81328	2.774000	0.95407	0.655000	0.94253	CGC		0.527	LHX9-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086547.2	NM_020204		14	115	1	0	1.52009e-12	1	1.71497e-12	14	115					A	197896792	C	A	197896792	3	1	433	1	0	0	0	0	1	0	0	0	8777	768	27	5	851	5	LHX9	1	197896792	Missense_Mutation	SNP	C	TCGA-XK-AAIR-01A-11D-A41K-08	39303946	197896792	51353829	3	20832											
KIF26B	55083	broad.mit.edu	37	chr1	245319797	245319797	+	Frame_Shift_Del	DEL	G	G	-																															gacccgcctcccccggcatcGgcactagttcgccgggctcc																										TCGA-XK-AAIR-01A-11D-A41K-08	TCGA-XK-AAIR-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab4e6321-19ec-44d9-aa53-2391911d92d0	bba1d69c-c2b1-4f84-82c8-b54699187c99	g.chr1:245319797delG	ENST00000407071.2	+	2	717	c.277delG	c.(277-279)ggcfs	p.G93fs		NM_018012.3	NP_060482.2	Q2KJY2	KI26B_HUMAN	kinesin family member 26B	93	Gly-rich.				establishment of cell polarity (GO:0030010)|metabolic process (GO:0008152)|positive regulation of cell-cell adhesion (GO:0022409)|ureteric bud invasion (GO:0072092)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		OV - Ovarian serous cystadenocarcinoma(106;0.022)			CCCCGGCATCGGCACTAGTTC	0.786																																						ENST00000407071.2																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51						c.(277-279)gcfs		kinesin family member 26B							2	2	2					1																	245319797		1048	2725	3773	SO:0001589	frameshift_variant	55083				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr1:245319797delG	AK001019	CCDS44342.1	1q44	2008-02-05			ENSG00000162849	ENSG00000162849		"Kinesins"	25484	protein-coding gene	gene with protein product		614026					Standard	NM_018012		Approved	FLJ10157	uc001ibf.1	Q2KJY2	OTTHUMG00000040079	ENST00000407071.2:c.277delG	1.37:g.245319797delG	ENSP00000385545:p.Gly93fs						p.G93fs	NM_018012.3	NP_060482.2	Q2KJY2	KI26B_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.022)		2	717	+	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		93			Gly-rich.		Q6ZQR9|Q6ZUZ0|Q8IUN3|Q8IVR1|Q9NWB4	Frame_Shift_Del	DEL	ENST00000407071.2	37	c.277delG	CCDS44342.1																																																																																				0.786	KIF26B-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381037.1	XM_371354		2	4						2	4	---	---	---	---	-	245319797	G	-	245319797	7	5	433	1	0	1	0	1	0	0	0	0	8295	1116	39	0	283	0	KIF26B	1	245319797	Frame_Shift_Del	DEL	G	TCGA-XK-AAIR-01A-11D-A41K-08	47423005	245319797	3930824	4	20833											
KIF26B	55083	broad.mit.edu	37	chr1	245851624	245851624	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccccccggtgggaagcacaCgccctggtccacgcagtccc	6	4	12	19	3	0	0	0	0	0	0	2	1	2	1	6	3	1	2	6	3	1	0			TCGA-XK-AAIR-01A-11D-A41K-08	TCGA-XK-AAIR-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab4e6321-19ec-44d9-aa53-2391911d92d0	bba1d69c-c2b1-4f84-82c8-b54699187c99	g.chr1:245851624C>T	ENST00000407071.2	+	12	5779	c.5339C>T	c.(5338-5340)aCg>aTg	p.T1780M	KIF26B_ENST00000366518.4_Missense_Mutation_p.T1399M	NM_018012.3	NP_060482.2	Q2KJY2	KI26B_HUMAN	kinesin family member 26B	1780	Ser-rich.				establishment of cell polarity (GO:0030010)|metabolic process (GO:0008152)|positive regulation of cell-cell adhesion (GO:0022409)|ureteric bud invasion (GO:0072092)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		OV - Ovarian serous cystadenocarcinoma(106;0.022)			GGGAAGCACACGCCCTGGTCC	0.711																																						ENST00000366518.4																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51						c.(4195-4197)aCg>aTg		kinesin family member 26B							7	8	7					1																	245851624		1682	3597	5279	SO:0001583	missense	55083				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr1:245851624C>T	AK001019	CCDS44342.1	1q44	2008-02-05			ENSG00000162849	ENSG00000162849		"Kinesins"	25484	protein-coding gene	gene with protein product		614026					Standard	NM_018012		Approved	FLJ10157	uc001ibf.1	Q2KJY2	OTTHUMG00000040079	ENST00000407071.2:c.5339C>T	1.37:g.245851624C>T	ENSP00000385545:p.Thr1780Met					KIF26B_ENST00000407071.2_Missense_Mutation_p.T1780M	p.T1399M			Q2KJY2	KI26B_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.022)		9	4300	+	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		1780					Q6ZQR9|Q6ZUZ0|Q8IUN3|Q8IVR1|Q9NWB4	Missense_Mutation	SNP	ENST00000407071.2	37	c.4196C>T	CCDS44342.1	.	.	.	.	.	.	.	.	.	.	T	10.54	1.379462	0.24944	.	.	ENSG00000162849	ENST00000407071;ENST00000366518;ENST00000413001	T;T	0.76186	-1.0;-1.0	5.44	3.13	0.36017	.	.	.	.	.	T	0.44307	0.1287	N	0.01109	-1.01	0.09310	N	0.999998	B;B	0.06786	0.001;0.0	B;B	0.04013	0.001;0.0	T	0.33523	-0.9865	9	0.31617	T	0.26	.	9.1898	0.37193	0.0:0.208:0.0:0.792	.	1399;1780	B7WPD9;Q2KJY2	.;KI26B_HUMAN	M	1780;1399;1396	ENSP00000385545:T1780M;ENSP00000355475:T1399M	ENSP00000355475:T1399M	T	+	2	0	KIF26B	243918247	1.000000	0.71417	0.998000	0.56505	0.724000	0.41520	2.777000	0.47717	0.072000	0.16694	-0.521000	0.04368	ACG		0.711	KIF26B-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381037.1	XM_371354		4	22	0	0	0	1	0	4	22					T	245851624	C	T	245851624	3	4	433	1	0	0	0	0	1	0	0	0	8295	536	19	1	5385	1	KIF26B	1	245851624	Missense_Mutation	SNP	C	TCGA-XK-AAIR-01A-11D-A41K-08	531827	245851624	3398997	5	20834											
C2orf65	130951	broad.mit.edu	37	chr2	74785922	74785922	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atttgctggctgctggcatcTtggaggctctgcctgggaca	5	12	14	10	0	2	0	0	0	2	0	2	2	2	2	1	5	3	5	1	5	0	2			TCGA-XK-AAIR-01A-11D-A41K-08	TCGA-XK-AAIR-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab4e6321-19ec-44d9-aa53-2391911d92d0	bba1d69c-c2b1-4f84-82c8-b54699187c99	g.chr2:74785922T>G	ENST00000290536.5	-	11	1630	c.1514A>C	c.(1513-1515)aAg>aCg	p.K505T	M1AP_ENST00000536235.1_Missense_Mutation_p.K501T|M1AP_ENST00000409585.1_Missense_Mutation_p.K501T|M1AP_ENST00000464686.1_5'UTR|M1AP_ENST00000358434.2_Missense_Mutation_p.K154T	NM_001281296.1|NM_138804.3	NP_001268225.1|NP_620159.2	Q8TC57	M1AP_HUMAN	meiosis 1 associated protein	505					cell differentiation (GO:0030154)|chromatin assembly (GO:0031497)|female gamete generation (GO:0007292)|male meiosis chromosome separation (GO:0051308)|RNA processing (GO:0006396)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)											TGCTGGCATCTTGGAGGCTCT	0.587																																						ENST00000290536.5																			0											c.(1513-1515)aAg>aCg		meiosis 1 associated protein							98	95	96					2																	74785922		2203	4300	6503	SO:0001583	missense	130951							g.chr2:74785922T>G		CCDS33229.1, CCDS62941.1	2p13.1	2013-02-05	2013-02-05	2013-01-16	ENSG00000159374	ENSG00000159374			25183	protein-coding gene	gene with protein product	"meiosis 1 arresting protein", "spermatogenesis associated 37"		"chromosome 2 open reading frame 65"	C2orf65		16881047, 23269666	Standard	NM_138804		Approved	D6Mm5e, SPATA37	uc002smy.3	Q8TC57	OTTHUMG00000152918	ENST00000290536.5:c.1514A>C	2.37:g.74785922T>G	ENSP00000290536:p.Lys505Thr					M1AP_ENST00000536235.1_Missense_Mutation_p.K501T|M1AP_ENST00000409585.1_Missense_Mutation_p.K501T|M1AP_ENST00000358434.2_Missense_Mutation_p.K154T|M1AP_ENST00000464686.1_5'UTR	p.K505T	NM_138804.3	NP_620159.2					11	1630	-								B7Z6E7|E9PGG8|Q6ZP30|Q96L07	Missense_Mutation	SNP	ENST00000290536.5	37	c.1514A>C	CCDS33229.1	.	.	.	.	.	.	.	.	.	.	T	17.14	3.313317	0.60414	.	.	ENSG00000159374	ENST00000290536;ENST00000409585;ENST00000536235;ENST00000358434	T;T;T	0.33654	1.4;1.4;1.4	5.44	5.44	0.79542	.	0.260619	0.37483	N	0.002068	T	0.54631	0.1870	L	0.60455	1.87	0.37360	D	0.911205	D;D;D;D	0.89917	1.0;0.99;1.0;1.0	D;P;D;D	0.87578	0.998;0.844;0.998;0.998	T	0.62144	-0.6916	10	0.62326	D	0.03	-11.2763	11.8124	0.52189	0.0:0.0:0.0:1.0	.	501;154;505;257	E9PGG8;Q8TC57-3;Q8TC57;B3KX03	.;.;CB065_HUMAN;.	T	505;501;501;154	ENSP00000290536:K505T;ENSP00000386793:K501T;ENSP00000445662:K501T	ENSP00000290536:K505T	K	-	2	0	C2orf65	74639430	0.632000	0.27172	0.619000	0.29118	0.832000	0.47134	0.800000	0.27042	2.275000	0.75901	0.533000	0.62120	AAG		0.587	M1AP-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000328569.1	NM_138804		11	40	0	0	0	1	0	11	40					G	74785922	T	G	74785922	3	3	433	1	0	0	0	0	1	0	0	0	2184	1609	56	5	82	5	C2orf65	2	74785922	Missense_Mutation	SNP	T	TCGA-XK-AAIR-01A-11D-A41K-08		74785922	168413451	6	20835											
RBM45	129831	broad.mit.edu	37	chr2	178981032	178981032	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atctggaagtcaccgagatgTtgaagatgaagaacttacaa	16	9	10	6	1	2	5	1	2	1	3	2	7	2	6	1	1	2	1	1	1	6	2			TCGA-XK-AAIR-01A-11D-A41K-08	TCGA-XK-AAIR-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab4e6321-19ec-44d9-aa53-2391911d92d0	bba1d69c-c2b1-4f84-82c8-b54699187c99	g.chr2:178981032T>C	ENST00000286070.5	+	2	436	c.344T>C	c.(343-345)gTt>gCt	p.V115A		NM_152945.2	NP_694453.2	Q8IUH3	RBM45_HUMAN	RNA binding motif protein 45	115					cell differentiation (GO:0030154)|nervous system development (GO:0007399)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27			OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.00957)|all cancers(119;0.037)			CACCGAGATGTTGAAGATGAA	0.343																																						ENST00000286070.5																			0				endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						c.(343-345)gTt>gCt		RNA binding motif protein 45							139	140	140					2																	178981032		2203	4300	6503	SO:0001583	missense	129831				cell differentiation|nervous system development	cytoplasm|nucleus	nucleotide binding|RNA binding	g.chr2:178981032T>C	AF526533	CCDS33335.1	2q31.2	2013-02-12			ENSG00000155636	ENSG00000155636		"RNA binding motif (RRM) containing"	24468	protein-coding gene	gene with protein product	"developmentally regulated RNA binding protein 1"	608888				12220514	Standard	XM_005246287		Approved	DRB1, FLJ44612	uc002ulv.3	Q8IUH3	OTTHUMG00000154202	ENST00000286070.5:c.344T>C	2.37:g.178981032T>C	ENSP00000286070:p.Val115Ala						p.V115A	NM_152945.2	NP_694453.2	Q8IUH3	RBM45_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.00957)|all cancers(119;0.037)		2	436	+			115					Q6NYL0|Q8NFC9	Missense_Mutation	SNP	ENST00000286070.5	37	c.344T>C	CCDS33335.1	.	.	.	.	.	.	.	.	.	.	T	16.27	3.075794	0.55646	.	.	ENSG00000155636	ENST00000286070	D	0.92495	-3.05	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	D	0.86682	0.5991	L	0.29908	0.895	0.80722	D	1	B	0.14805	0.011	B	0.13407	0.009	T	0.82102	-0.0623	10	0.14656	T	0.56	-17.7954	15.6048	0.76658	0.0:0.0:0.0:1.0	.	115	Q8IUH3-3	.	A	115	ENSP00000286070:V115A	ENSP00000286070:V115A	V	+	2	0	RBM45	178689278	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.839000	0.86812	2.279000	0.76181	0.533000	0.62120	GTT		0.343	RBM45-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334375.2	NM_152945		13	57	0	0	0	1	0	13	57					C	178981032	T	C	178981032	3	2	433	1	0	0	0	0	1	0	0	0	13139	1725	60	4	350	4	RBM45	2	178981032	Missense_Mutation	SNP	T	TCGA-XK-AAIR-01A-11D-A41K-08	104195110	178981032	64218341	7	20836											
TRIP12	9320	broad.mit.edu	37	chr2	230662405	230662405	+	Splice_Site	DEL	C	C	-																															aaaatgcactggacacagcaCctggaggttgagttgttcgg																										TCGA-XK-AAIR-01A-11D-A41K-08	TCGA-XK-AAIR-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab4e6321-19ec-44d9-aa53-2391911d92d0	bba1d69c-c2b1-4f84-82c8-b54699187c99	g.chr2:230662405delC	ENST00000283943.5	-	23	3578		c.e23+1		TRIP12_ENST00000389044.4_Splice_Site|TRIP12_ENST00000543084.1_Splice_Site|TRIP12_ENST00000389045.3_Splice_Site	NM_001284214.1|NM_004238.1	NP_001271143.1|NP_004229.1	Q14669	TRIPC_HUMAN	thyroid hormone receptor interactor 12						cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|embryo development (GO:0009790)|negative regulation of double-strand break repair (GO:2000780)|negative regulation of histone H2A K63-linked ubiquitination (GO:1901315)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligase activity (GO:0016874)|thyroid hormone receptor binding (GO:0046966)|ubiquitin-protein transferase activity (GO:0004842)			breast(2)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(19)|lung(32)|ovary(5)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)		GGACACAGCACCTGGAGGTTG	0.448																																						ENST00000283943.5																			0				breast(2)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(19)|lung(32)|ovary(5)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						c.e23+1		thyroid hormone receptor interactor 12							132	132	132					2																	230662405		2203	4300	6503	SO:0001630	splice_region_variant	9320				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	proteasome complex	thyroid hormone receptor binding|ubiquitin-protein ligase activity	g.chr2:230662405delC	L40383	CCDS33391.1, CCDS63145.1, CCDS63146.1	2q36.3	2008-05-27			ENSG00000153827	ENSG00000153827			12306	protein-coding gene	gene with protein product		604506				7776974	Standard	XM_005246961		Approved	KIAA0045	uc002vpw.1	Q14669	OTTHUMG00000153623	ENST00000283943.5:c.3399+1G>-	2.37:g.230662405delC						TRIP12_ENST00000389045.3_Splice_Site|TRIP12_ENST00000543084.1_Splice_Site|TRIP12_ENST00000389044.4_Splice_Site		NM_004238.1	NP_004229.1	Q14669	TRIPC_HUMAN		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)	23	3578	-		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)						D4HL82|Q14CA3|Q14CF1|Q15644|Q53R87|Q53TE7	Splice_Site	DEL	ENST00000283943.5	37		CCDS33391.1																																																																																				0.448	TRIP12-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000331861.3	NM_004238	Intron	9	43						9	43	---	---	---	---	-	230662405	C	-	230662405	8	5	433	1	0	1	0	1	0	0	1	0	16553	521	18	0	2654	0	TRIP12	2	230662405	Splice_Site	DEL	C	TCGA-XK-AAIR-01A-11D-A41K-08	51681373	230662405	12536968	8	20837											
SI	6476	broad.mit.edu	37	chr3	164739070	164739070	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgccaaaaggattttccttGatttccacatcataaagtct	13	14	5	9	0	2	1	1	1	1	0	4	2	4	2	3	1	1	0	3	1	4	5			TCGA-XK-AAIR-01A-11D-A41K-08	TCGA-XK-AAIR-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab4e6321-19ec-44d9-aa53-2391911d92d0	bba1d69c-c2b1-4f84-82c8-b54699187c99	g.chr3:164739070G>T	ENST00000264382.3	-	27	3263	c.3201C>A	c.(3199-3201)atC>atA	p.I1067I		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	1067	Sucrase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	brush border (GO:0005903)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|oligo-1,6-glucosidase activity (GO:0004574)|sucrose alpha-glucosidase activity (GO:0004575)			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)|Scopolamine(DB00747)	GATTTTCCTTGATTTCCACAT	0.343										HNSCC(35;0.089)																												ENST00000264382.3																			0				NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218						c.(3199-3201)atC>atA		sucrase-isomaltase (alpha-glucosidase)	Acarbose(DB00284)						180	182	181					3																	164739070		2203	4300	6503	SO:0001819	synonymous_variant	6476				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity	g.chr3:164739070G>T	X63597	CCDS3196.1	3q25.2-q26.2	2004-04-06	2004-04-06		ENSG00000090402	ENSG00000090402	3.2.1.10		10856	protein-coding gene	gene with protein product	"Oligosaccharide alpha-1,6-glucosidase"	609845	"sucrase-isomaltase"			2962903, 1353958	Standard	NM_001041		Approved		uc003fei.3	P14410	OTTHUMG00000158065	ENST00000264382.3:c.3201C>A	3.37:g.164739070G>T		HNSCC(35;0.089)					p.I1067I	NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN			27	3263	-		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)	1067			Sucrase.		A2RUC3|Q1JQ80|Q1RMC2	Silent	SNP	ENST00000264382.3	37	c.3201C>A	CCDS3196.1																																																																																				0.343	SI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350116.1	NM_001041		5	94	1	0	0.014758	1	0.0158378	5	94					T	164739070	G	T	164739070	2	4	433	1	0	0	0	0	0	0	0	1	14297	1280	45	5		5	SI	3	164739070	Silent	SNP	G	TCGA-XK-AAIR-01A-11D-A41K-08		164739070	33283360	9	20838											
ZNF595	152687	broad.mit.edu	37	chr4	59341	59341	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	aggaactcgtaacattcaggGatgtggccatagaattctcc	12	10	10	9	1	2	1	1	0	1	1	4	3	2	3	2	3	2	1	2	3	4	4			TCGA-XK-AAIR-01A-11D-A41K-08	TCGA-XK-AAIR-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab4e6321-19ec-44d9-aa53-2391911d92d0	bba1d69c-c2b1-4f84-82c8-b54699187c99	g.chr4:59341G>A	ENST00000509152.2	+	2	207	c.22G>A	c.(22-24)Gat>Aat	p.D8N	ZNF595_ENST00000339368.6_3'UTR|ZNF595_ENST00000526473.2_Missense_Mutation_p.D8N			Q8IYB9	ZN595_HUMAN	zinc finger protein 595	8	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(5)|kidney(1)|large_intestine(1)|lung(11)|prostate(2)	20		all_cancers(4;0.0738)|all_epithelial(65;0.139)		Lung(54;0.0654)|Epithelial(2;0.0921)|all cancers(2;0.146)|LUSC - Lung squamous cell carcinoma(95;0.173)		AACATTCAGGGATGTGGCCAT	0.418																																						ENST00000509152.2																			0				endometrium(5)|kidney(1)|large_intestine(1)|lung(11)|prostate(2)	20						c.(22-24)Gat>Aat		zinc finger protein 595							359	386	377					4																	59341		2203	4300	6503	SO:0001583	missense	152687							g.chr4:59341G>A	BX537887	CCDS75075.1, CCDS75076.1, CCDS75077.1	4p16.3	2013-01-08				ENSG00000272602		"Zinc fingers, C2H2-type", "-"	27196	protein-coding gene	gene with protein product						12477932	Standard	NM_182524		Approved	FLJ31740		Q8IYB9		ENST00000509152.2:c.22G>A	4.37:g.59341G>A	ENSP00000434858:p.Asp8Asn					ZNF595_ENST00000339368.6_3'UTR|ZNF595_ENST00000526473.2_Missense_Mutation_p.D8N	p.D8N						Lung(54;0.0654)|Epithelial(2;0.0921)|all cancers(2;0.146)|LUSC - Lung squamous cell carcinoma(95;0.173)	2	207	+		all_cancers(4;0.0738)|all_epithelial(65;0.139)							Missense_Mutation	SNP	ENST00000509152.2	37	c.22G>A		.	.	.	.	.	.	.	.	.	.	G	15.80	2.941684	0.53079	.	.	ENSG00000197701	ENST00000509152;ENST00000526473	T;T	0.11169	2.8;2.8	1.26	0.225	0.15325	Krueppel-associated box (8);	.	.	.	.	T	0.25158	0.0611	.	.	.	0.25366	N	0.988743	D;D	0.89917	1.0;0.999	D;D	0.91635	0.999;0.997	T	0.08452	-1.0721	8	0.87932	D	0	.	5.3694	0.16131	0.2251:0.0:0.7749:0.0	.	8;8	Q8IYB9;Q3SXZ3	ZN595_HUMAN;ZN718_HUMAN	N	8	ENSP00000434858:D8N;ENSP00000437878:D8N	ENSP00000434858:D8N	D	+	1	0	ZNF595	49341	0.995000	0.38212	0.552000	0.28243	0.244000	0.25665	1.641000	0.37197	-0.157000	0.11059	0.484000	0.47621	GAT		0.418	ZNF595-004	PUTATIVE	basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000357817.2	NM_182524		5	356	0	0	0	1	0	5	356					A	59341	G	A	59341	3	1	433	1	0	0	0	0	1	0	0	0	18022	1174	41	3	28	3	ZNF595	4	59341	Missense_Mutation	SNP	G	TCGA-XK-AAIR-01A-11D-A41K-08		59341	191094935	10	20839											
SPON2	10417	broad.mit.edu	37	chr4	1165174	1165174	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cccgccgcctcgatctccttCatcagcgcccaggcctcgcc	4	7	8	22	5	3	0	2	0	1	0	6	1	3	0	7	1	1	0	7	1	0	1	rs202135813		TCGA-XK-AAIR-01A-11D-A41K-08	TCGA-XK-AAIR-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab4e6321-19ec-44d9-aa53-2391911d92d0	bba1d69c-c2b1-4f84-82c8-b54699187c99	g.chr4:1165174C>T	ENST00000290902.5	-	3	653	c.321G>A	c.(319-321)atG>atA	p.M107I	SPON2_ENST00000431380.1_Missense_Mutation_p.M107I	NM_012445.3	NP_036577	Q9BUD6	SPON2_HUMAN	spondin 2, extracellular matrix protein	107	Spondin. {ECO:0000255|PROSITE- ProRule:PRU00364}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|innate immune response (GO:0045087)	extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|pancreas(1)|skin(1)	9			OV - Ovarian serous cystadenocarcinoma(23;0.00805)	UCEC - Uterine corpus endometrioid carcinoma (64;0.139)|Colorectal(103;0.19)		CGATCTCCTTCATCAGCGCCC	0.701																																						ENST00000290902.5																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|pancreas(1)|skin(1)	9						c.(319-321)atG>atA		spondin 2, extracellular matrix protein							21	24	23					4																	1165174		2186	4257	6443	SO:0001583	missense	10417				axon guidance|cell adhesion|innate immune response	proteinaceous extracellular matrix	metal ion binding	g.chr4:1165174C>T	AB027466	CCDS3347.1	4p16.3	2008-07-29			ENSG00000159674	ENSG00000159674			11253	protein-coding gene	gene with protein product	"Mindin", "M-spondin"	605918				10512675, 15094111	Standard	NM_012445		Approved	DIL1	uc003gco.4	Q9BUD6	OTTHUMG00000089002	ENST00000290902.5:c.321G>A	4.37:g.1165174C>T	ENSP00000290902:p.Met107Ile					SPON2_ENST00000431380.1_Missense_Mutation_p.M107I	p.M107I	NM_012445.3	NP_036577.1	Q9BUD6	SPON2_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.00805)	UCEC - Uterine corpus endometrioid carcinoma (64;0.139)|Colorectal(103;0.19)	3	653	-			107			Spondin.		D3DVN9|Q4W5N4|Q9ULW1	Missense_Mutation	SNP	ENST00000290902.5	37	c.321G>A	CCDS3347.1	.	.	.	.	.	.	.	.	.	.	C	9.676	1.147979	0.21288	.	.	ENSG00000159674	ENST00000290902;ENST00000431380;ENST00000503765	T;T;T	0.40756	1.02;1.02;1.02	4.5	4.5	0.54988	Spondin, N-terminal (2);	0.116046	0.85682	D	0.000000	T	0.37732	0.1014	L	0.37850	1.14	0.52501	D	0.999952	B;B;B	0.31519	0.327;0.068;0.068	B;B;B	0.34873	0.191;0.086;0.124	T	0.24693	-1.0153	10	0.37606	T	0.19	.	16.7743	0.85547	0.0:1.0:0.0:0.0	.	107;107;107	D6RB12;D3DVN9;Q9BUD6	.;.;SPON2_HUMAN	I	107	ENSP00000290902:M107I;ENSP00000394832:M107I;ENSP00000424542:M107I	ENSP00000290902:M107I	M	-	3	0	SPON2	1155174	1.000000	0.71417	0.965000	0.40720	0.623000	0.37688	3.297000	0.51810	2.053000	0.61076	0.511000	0.50034	ATG		0.701	SPON2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000202080.2			3	30	0	0	0	1	0	3	30					T	1165174	C	T	1165174	3	4	433	1	0	0	0	0	1	0	0	0	15082	826	29	3	690	3	SPON2	4	1165174	Missense_Mutation	SNP	C	TCGA-XK-AAIR-01A-11D-A41K-08	1105833	1165174	189989102	11	20840											
FGFR3	2261	broad.mit.edu	37	chr4	1808052	1808052	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtctacactcaccagagtgaCgtgtacgtgtcctgcagagc	9	9	11	12	2	2	3	1	1	1	2	3	3	3	3	2	0	4	2	2	0	2	2			TCGA-XK-AAIR-01A-11D-A41K-08	TCGA-XK-AAIR-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab4e6321-19ec-44d9-aa53-2391911d92d0	bba1d69c-c2b1-4f84-82c8-b54699187c99	g.chr4:1808052C>T	ENST00000260795.2	+	14	2130	c.2028C>T	c.(2026-2028)gaC>gaT	p.D676D	FGFR3_ENST00000352904.1_Silent_p.D564D|FGFR3_ENST00000412135.2_Silent_p.D564D|FGFR3_ENST00000440486.2_Silent_p.D676D|FGFR3_ENST00000340107.4_Silent_p.D678D|FGFR3_ENST00000481110.2_Intron			P22607	FGFR3_HUMAN	fibroblast growth factor receptor 3	676	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				alveolar secondary septum development (GO:0061144)|axonogenesis involved in innervation (GO:0060385)|bone maturation (GO:0070977)|bone mineralization (GO:0030282)|bone morphogenesis (GO:0060349)|cell-cell signaling (GO:0007267)|central nervous system myelination (GO:0022010)|chondrocyte differentiation (GO:0002062)|chondrocyte proliferation (GO:0035988)|cochlea development (GO:0090102)|digestive tract morphogenesis (GO:0048546)|endochondral bone growth (GO:0003416)|endochondral ossification (GO:0001958)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell fate commitment (GO:0072148)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor apoptotic signaling pathway (GO:1902178)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inner ear receptor cell differentiation (GO:0060113)|insulin receptor signaling pathway (GO:0008286)|JAK-STAT cascade (GO:0007259)|lens fiber cell development (GO:0070307)|lens morphogenesis in camera-type eye (GO:0002089)|MAPK cascade (GO:0000165)|morphogenesis of an epithelium (GO:0002009)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of developmental growth (GO:0048640)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of mitosis (GO:0045839)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway (GO:0090080)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|protein autophosphorylation (GO:0046777)|response to axon injury (GO:0048678)|skeletal system development (GO:0001501)|somatic stem cell maintenance (GO:0035019)|substantia nigra development (GO:0021762)	cell surface (GO:0009986)|cytoplasmic side of plasma membrane (GO:0009898)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|fibroblast growth factor binding (GO:0017134)|fibroblast growth factor-activated receptor activity (GO:0005007)|protein tyrosine kinase activity (GO:0004713)			NS(1)|central_nervous_system(5)|cervix(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(40)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(9)|skin(339)|soft_tissue(4)|testis(2)|upper_aerodigestive_tract(58)|urinary_tract(2607)	3091		Breast(71;0.212)|all_epithelial(65;0.241)	all cancers(2;0.000145)|OV - Ovarian serous cystadenocarcinoma(23;0.0019)|Epithelial(3;0.00221)|GBM - Glioblastoma multiforme(2;0.234)		Palifermin(DB00039)|Pazopanib(DB06589)|Ponatinib(DB08901)	ACCAGAGTGACGTGTACGTGT	0.667		1	"Mis, T"	"IGH@, ETV6"	"bladder, MM, T-cell lymphoma"		"Hypochondroplasia, Thanatophoric dysplasia"		Saethre-Chotzen syndrome;Muenke syndrome																													ENST00000340107.4		1		Dom	yes		4	4p16.3	2261	"Mis, T"	fibroblast growth factor receptor 3	yes	"Hypochondroplasia, Thanatophoric dysplasia"	"L, E"	"IGH@, ETV6"		"bladder, MM, T-cell lymphoma"		0				NS(1)|central_nervous_system(5)|cervix(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(40)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(9)|skin(339)|soft_tissue(4)|testis(2)|upper_aerodigestive_tract(58)|urinary_tract(2607)	3091						c.(2032-2034)gaC>gaT		fibroblast growth factor receptor 3	Palifermin(DB00039)						52	47	49					4																	1808052		2203	4300	6503	SO:0001819	synonymous_variant	2261	Saethre-Chotzen syndrome;Muenke syndrome	Familial Cancer Database	Acrocephalosyndactyly type III;Muenke Nonsyndromic Coronal Craniosynostosis, FGFR3-related Craniosynostosis	bone maturation|cell growth|insulin receptor signaling pathway|JAK-STAT cascade|MAPKKK cascade|negative regulation of developmental growth|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|identical protein binding	g.chr4:1808052C>T	M64347	CCDS3353.1, CCDS3354.1, CCDS54706.1	4p16.3	2013-01-11	2008-08-01		ENSG00000068078	ENSG00000068078		"CD molecules", "Immunoglobulin superfamily / I-set domain containing"	3690	protein-coding gene	gene with protein product		134934	"achondroplasia, thanatophoric dwarfism"	ACH		1847508	Standard	NM_000142		Approved	CEK2, JTK4, CD333	uc003gdu.2	P22607	OTTHUMG00000121148	ENST00000260795.2:c.2028C>T	4.37:g.1808052C>T						FGFR3_ENST00000481110.2_Intron|FGFR3_ENST00000352904.1_Silent_p.D564D|FGFR3_ENST00000260795.2_Silent_p.D676D|FGFR3_ENST00000412135.2_Silent_p.D564D|FGFR3_ENST00000440486.2_Silent_p.D676D	p.D678D	NM_001163213.1	NP_001156685.1	P22607	FGFR3_HUMAN	all cancers(2;0.000145)|OV - Ovarian serous cystadenocarcinoma(23;0.0019)|Epithelial(3;0.00221)|GBM - Glioblastoma multiforme(2;0.234)		15	2290	+		Breast(71;0.212)|all_epithelial(65;0.241)	676			Protein kinase.		D3DVP9|D3DVQ0|Q14308|Q16294|Q16608|Q59FL9	Silent	SNP	ENST00000260795.2	37	c.2034C>T	CCDS3353.1																																																																																				0.667	FGFR3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000241632.2	NM_000142		3	34	0	0	0	1	0	3	34					T	1808052	C	T	1808052	2	4	433	1	0	0	0	0	0	0	0	1	5867	535	19	1		1	FGFR3	4	1808052	Silent	SNP	C	TCGA-XK-AAIR-01A-11D-A41K-08	642878	1808052	189346224	12	20841											
MTHFD1L	25902	broad.mit.edu	37	chr6	151239756	151239756	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agaatacattttggtggactCattgaggaagatgatgtgat	13	13	12	3	0	1	5	1	3	0	2	1	7	1	7	0	3	1	0	0	3	3	4			TCGA-XK-AAIR-01A-11D-A41K-08	TCGA-XK-AAIR-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab4e6321-19ec-44d9-aa53-2391911d92d0	bba1d69c-c2b1-4f84-82c8-b54699187c99	g.chr6:151239756C>T	ENST00000367321.3	+	9	1210	c.936C>T	c.(934-936)ctC>ctT	p.L312L		NM_001242767.1|NM_001242768.1|NM_015440.4	NP_001229696.1|NP_001229697.1|NP_056255.2	Q6UB35	C1TM_HUMAN	methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1-like	312	Methylenetetrahydrofolate dehydrogenase and cyclohydrolase.				folic acid-containing compound biosynthetic process (GO:0009396)|folic acid-containing compound metabolic process (GO:0006760)|formate metabolic process (GO:0015942)|one-carbon metabolic process (GO:0006730)|oxidation-reduction process (GO:0055114)|tetrahydrofolate interconversion (GO:0035999)|tetrahydrofolate metabolic process (GO:0046653)	membrane (GO:0016020)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|formate-tetrahydrofolate ligase activity (GO:0004329)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(8)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)	29		Ovarian(120;0.128)		OV - Ovarian serous cystadenocarcinoma(155;8.7e-12)		TTGGTGGACTCATTGAGGAAG	0.393																																						ENST00000367321.3																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(8)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)	29						c.(934-936)ctC>ctT		methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1-like							232	229	230					6																	151239756		2203	4300	6503	SO:0001819	synonymous_variant	25902				folic acid-containing compound biosynthetic process|formate metabolic process|one-carbon metabolic process|tetrahydrofolate metabolic process	mitochondrion	ATP binding|formate-tetrahydrofolate ligase activity|protein homodimerization activity	g.chr6:151239756C>T	BC017477	CCDS5228.1, CCDS56457.1, CCDS75535.1, CCDS75536.1	6q25.1	2010-07-19	2004-12-13	2004-12-14	ENSG00000120254	ENSG00000120254	6.3.4.3		21055	protein-coding gene	gene with protein product	"10-formyl-THF synthetase", "mitochondrial C1-tetrahydrofolate synthase", "monofunctional C1-tetrahydrofolate synthase, mitochondrial"	611427	"formyltetrahydrofolate synthetase domain containing 1"	FTHFSDC1		18804703	Standard	NM_015440		Approved	DKFZP586G1517, FLJ21145	uc021zgs.1	Q6UB35	OTTHUMG00000015828	ENST00000367321.3:c.936C>T	6.37:g.151239756C>T							p.L312L	NM_001242767.1|NM_001242768.1|NM_015440.4	NP_001229696.1|NP_001229697.1|NP_056255.2	Q6UB35	C1TM_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;8.7e-12)	9	1210	+		Ovarian(120;0.128)	312			Methylenetetrahydrofolate dehydrogenase and cyclohydrolase.		Q2TBF3|Q8WVW0|Q96HG8|Q9H789|Q9UFU8	Silent	SNP	ENST00000367321.3	37	c.936C>T	CCDS5228.1	.	.	.	.	.	.	.	.	.	.	C	3.753	-0.051142	0.07407	.	.	ENSG00000120254	ENST00000367308	.	.	.	5.69	3.85	0.44370	.	.	.	.	.	T	0.20536	0.0494	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.12293	-1.0553	4	.	.	.	.	10.0538	0.42233	0.132:0.6838:0.1841:0.0	.	.	.	.	L	273	.	.	S	+	2	0	MTHFD1L	151281449	0.001000	0.12720	0.007000	0.13788	0.118000	0.20060	0.336000	0.19823	1.374000	0.46228	-0.181000	0.13052	TCA		0.393	MTHFD1L-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042699.1	NM_015440		7	55	0	0	0	1	0	7	55					T	151239756	C	T	151239756	2	4	433	1	0	0	0	0	0	0	0	1	9928	813	29	3		3	MTHFD1L	6	151239756	Silent	SNP	C	TCGA-XK-AAIR-01A-11D-A41K-08		151239756	19875311	13	20842											
SYNE1	23345	broad.mit.edu	37	chr6	152708427	152708428	+	Frame_Shift_Ins	INS	-	-	T																															tggttgtaagggatgttctaINSttttttgatccactgattcc																										TCGA-XK-AAIR-01A-11D-A41K-08	TCGA-XK-AAIR-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab4e6321-19ec-44d9-aa53-2391911d92d0	bba1d69c-c2b1-4f84-82c8-b54699187c99	g.chr6:152708427_152708428insT	ENST00000367255.5	-	54	8867_8868	c.8266_8267insA	c.(8266-8268)atafs	p.I2756fs	SYNE1_ENST00000341594.5_Frame_Shift_Ins_p.I2795fs|SYNE1_ENST00000265368.4_Frame_Shift_Ins_p.I2756fs|SYNE1_ENST00000423061.1_Frame_Shift_Ins_p.I2763fs|SYNE1_ENST00000448038.1_Frame_Shift_Ins_p.I2763fs	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	2756					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		GGGATGTTCTATTTTTTGATCC	0.455										HNSCC(10;0.0054)																												ENST00000367255.5																			0				NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524						c.(8266-8268)agafs		spectrin repeat containing, nuclear envelope 1																																				SO:0001589	frameshift_variant	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152708427_152708428insT	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"myocyte nuclear envelope protein 1", "nuclear envelope spectrin repeat-1"	608441	"chromosome 6 open reading frame 98"	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.8267dupA	6.37:g.152708433_152708433dupT	ENSP00000356224:p.Ile2756fs	HNSCC(10;0.0054)				SYNE1_ENST00000423061.1_Frame_Shift_Ins_p.R2763fs|SYNE1_ENST00000448038.1_Frame_Shift_Ins_p.R2763fs|SYNE1_ENST00000341594.5_Frame_Shift_Ins_p.R2795fs|SYNE1_ENST00000265368.4_Frame_Shift_Ins_p.R2756fs	p.R2756fs	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	54	8867_8868	-		Ovarian(120;0.0955)	2756					E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Frame_Shift_Ins	INS	ENST00000367255.5	37	c.8266_8267insA	CCDS5236.2																																																																																				0.455	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		7	50						7	50	---	---	---	---	T	152708428	-	T	152708427	7	5	433	1	0	1	1	0	0	0	0	0	15442	449	16	0	18571	0	SYNE1	6	152708427	Frame_Shift_Ins	INS	-	TCGA-XK-AAIR-01A-11D-A41K-08	1468671	152708427	18406640	14	20843											
ZDHHC4	55146	broad.mit.edu	37	chr7	6628405	6628405	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgactgggcctggtgccagcGttgtccccttgtggcctggc	2	11	15	13	1	0	1	0	1	0	0	1	1	1	1	5	4	2	1	5	4	0	2			TCGA-XK-AAIR-01A-11D-A41K-08	TCGA-XK-AAIR-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab4e6321-19ec-44d9-aa53-2391911d92d0	bba1d69c-c2b1-4f84-82c8-b54699187c99	g.chr7:6628405G>A	ENST00000396706.2	+	8	1342	c.899G>A	c.(898-900)cGt>cAt	p.R300H	C7orf26_ENST00000344417.5_5'Flank|ZDHHC4_ENST00000396713.2_Missense_Mutation_p.R300H|C7orf26_ENST00000359073.5_5'Flank|ZDHHC4_ENST00000396709.1_Missense_Mutation_p.R300H|ZDHHC4_ENST00000405731.3_Missense_Mutation_p.R300H|ZDHHC4_ENST00000335965.6_Missense_Mutation_p.R300H|AC079742.4_ENST00000434951.1_RNA|ZDHHC4_ENST00000396707.2_Missense_Mutation_p.R300H			Q9NPG8	ZDHC4_HUMAN	zinc finger, DHHC-type containing 4	300						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)	p.R300H(2)		breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19		Ovarian(82;0.232)		UCEC - Uterine corpus endometrioid carcinoma (126;0.1)		TGGTGCCAGCGTTGTCCCCTT	0.577																																						ENST00000396706.2																			2	Substitution - Missense(2)	p.R300H(2)	upper_aerodigestive_tract(1)|prostate(1)	breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19						c.(898-900)cGt>cAt		zinc finger, DHHC-type containing 4							122	109	113					7																	6628405		2203	4300	6503	SO:0001583	missense	55146					integral to membrane	acyltransferase activity|zinc ion binding	g.chr7:6628405G>A	AF201931	CCDS5352.1	7p22.1	2011-01-11			ENSG00000136247	ENSG00000136247		"Zinc fingers, DHHC-type"	18471	protein-coding gene	gene with protein product							Standard	NM_018106		Approved	FLJ10479, ZNF374	uc003sqj.3	Q9NPG8	OTTHUMG00000023579	ENST00000396706.2:c.899G>A	7.37:g.6628405G>A	ENSP00000379934:p.Arg300His					ZDHHC4_ENST00000335965.6_Missense_Mutation_p.R300H|ZDHHC4_ENST00000396709.1_Missense_Mutation_p.R300H|AC079742.4_ENST00000434951.1_RNA|ZDHHC4_ENST00000396713.2_Missense_Mutation_p.R300H|ZDHHC4_ENST00000405731.3_Missense_Mutation_p.R300H|ZDHHC4_ENST00000396707.2_Missense_Mutation_p.R300H	p.R300H			Q9NPG8	ZDHC4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.1)	8	1342	+		Ovarian(82;0.232)	300					A4D2N9|Q53EV7|Q6FIB5|Q9H0R9	Missense_Mutation	SNP	ENST00000396706.2	37	c.899G>A	CCDS5352.1	.	.	.	.	.	.	.	.	.	.	G	6.659	0.490085	0.12702	.	.	ENSG00000136247	ENST00000405731;ENST00000396713;ENST00000396707;ENST00000335965;ENST00000396709;ENST00000396706	T;T;T;T;T;T	0.34667	1.35;1.35;1.35;1.35;1.35;1.35	4.53	-8.02	0.01118	.	0.684599	0.14827	N	0.296085	T	0.07234	0.0183	N	0.02158	-0.66	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.30357	-0.9981	10	0.02654	T	1	-20.1553	3.7761	0.08660	0.3325:0.1185:0.4324:0.1166	.	300	Q9NPG8	ZDHC4_HUMAN	H	300	ENSP00000385027:R300H;ENSP00000379941:R300H;ENSP00000379935:R300H;ENSP00000337475:R300H;ENSP00000379937:R300H;ENSP00000379934:R300H	ENSP00000337475:R300H	R	+	2	0	ZDHHC4	6594930	0.000000	0.05858	0.000000	0.03702	0.226000	0.24999	-0.511000	0.06321	-1.175000	0.02751	-1.099000	0.02127	CGT		0.577	ZDHHC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207477.3	NM_018106		5	54	0	0	0	1	0	5	54					A	6628405	G	A	6628405	3	1	433	1	0	0	0	0	1	0	0	0	17614	1145	40	1	921	1	ZDHHC4	7	6628405	Missense_Mutation	SNP	G	TCGA-XK-AAIR-01A-11D-A41K-08		6628405	152510258	15	20844											
MAGI2	9863	broad.mit.edu	37	chr7	77973249	77973249	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	aggaatgttcccttcaactgGgatgcatcccgggtgaagag	10	9	13	9	1	1	2	1	1	0	1	3	4	3	4	2	3	2	2	2	3	3	2			TCGA-XK-AAIR-01A-11D-A41K-08	TCGA-XK-AAIR-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab4e6321-19ec-44d9-aa53-2391911d92d0	bba1d69c-c2b1-4f84-82c8-b54699187c99	g.chr7:77973249G>T	ENST00000354212.4	-	9	1507	c.1254C>A	c.(1252-1254)tcC>tcA	p.S418S	MAGI2_ENST00000535697.1_Silent_p.S255S|MAGI2_ENST00000419488.1_Silent_p.S418S|MAGI2_ENST00000522391.1_Silent_p.S418S|MAGI2_ENST00000536571.1_Silent_p.S250S	NM_012301.3	NP_036433.2	Q86UL8	MAGI2_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 2	418					cellular response to nerve growth factor stimulus (GO:1990090)|cytoplasmic transport (GO:0016482)|glomerular visceral epithelial cell development (GO:0072015)|mitotic cell cycle arrest (GO:0071850)|negative regulation of activin receptor signaling pathway (GO:0032926)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein kinase B signaling (GO:0051898)|nerve growth factor signaling pathway (GO:0038180)|planar cell polarity pathway involved in axis elongation (GO:0003402)|positive regulation of neuron projection development (GO:0010976)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of receptor internalization (GO:0002092)|protein heterooligomerization (GO:0051291)|receptor clustering (GO:0043113)|SMAD protein signal transduction (GO:0060395)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|late endosome (GO:0005770)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|protein complex (GO:0043234)|slit diaphragm (GO:0036057)|synapse (GO:0045202)|tight junction (GO:0005923)	beta-1 adrenergic receptor binding (GO:0031697)|phosphatase binding (GO:0019902)|receptor signaling complex scaffold activity (GO:0030159)|signal transducer activity (GO:0004871)|SMAD binding (GO:0046332)|type II activin receptor binding (GO:0070699)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				CCTTCAACTGGGATGCATCCC	0.443																																						ENST00000354212.4																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84						c.(1252-1254)tcC>tcA		membrane associated guanylate kinase, WW and PDZ domain containing 2							108	90	97					7																	77973249		2203	4300	6503	SO:0001819	synonymous_variant	9863					cell junction|synapse|synaptosome	phosphatase binding	g.chr7:77973249G>T	AB014605	CCDS5594.1, CCDS75623.1	7q21	2005-08-09			ENSG00000187391	ENSG00000187391			18957	protein-coding gene	gene with protein product		606382				10681527, 9734811	Standard	XM_005250725		Approved	AIP1, ARIP1, KIAA0705, ACVRIP1, MAGI-2	uc003ugx.3	Q86UL8	OTTHUMG00000130697	ENST00000354212.4:c.1254C>A	7.37:g.77973249G>T						MAGI2_ENST00000522391.1_Silent_p.S418S|MAGI2_ENST00000419488.1_Silent_p.S418S|MAGI2_ENST00000535697.1_Silent_p.S255S|MAGI2_ENST00000536571.1_Silent_p.S250S	p.S418S	NM_012301.3	NP_036433.2	Q86UL8	MAGI2_HUMAN			9	1507	-		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)	418					A4D1C1|A7E2C3|O60434|O60510|Q86UI7|Q9NP44|Q9UDQ5|Q9UDU1	Silent	SNP	ENST00000354212.4	37	c.1254C>A	CCDS5594.1																																																																																				0.443	MAGI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253197.3	NM_012301		5	35	1	0	0.217242	1	0.222294	5	35					T	77973249	G	T	77973249	2	4	433	1	0	0	0	0	0	0	0	1	9191	1219	43	5		5	MAGI2	7	77973249	Silent	SNP	G	TCGA-XK-AAIR-01A-11D-A41K-08	71344844	77973249	81165414	16	20845											
LAMB4	22798	broad.mit.edu	37	chr7	107703339	107703339	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	caggccaggcctgtgacattCggcagacaaggacatgcacc	11	5	12	13	1	0	2	0	1	0	1	1	3	0	3	3	4	1	2	3	4	1	1	rs576296424	byFrequency	TCGA-XK-AAIR-01A-11D-A41K-08	TCGA-XK-AAIR-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab4e6321-19ec-44d9-aa53-2391911d92d0	bba1d69c-c2b1-4f84-82c8-b54699187c99	g.chr7:107703339C>T	ENST00000388781.3	-	23	3245	c.3162G>A	c.(3160-3162)ccG>ccA	p.P1054P	LAMB4_ENST00000388780.3_Silent_p.P1054P|LAMB4_ENST00000205386.4_Silent_p.P1054P	NM_007356.2	NP_031382.2	A4D0S4	LAMB4_HUMAN	laminin, beta 4	1054	Laminin EGF-like 11. {ECO:0000255|PROSITE-ProRule:PRU00460}.				cell adhesion (GO:0007155)	basement membrane (GO:0005604)				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						CTGTGACATTCGGCAGACAAG	0.592													C|||	4	0.000798722	0	0	5008	,	,		19440	0		0	False		,,,				2504	0.0041					ENST00000388781.3																			0				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						c.(3160-3162)ccG>ccA		laminin, beta 4							69	58	62					7																	107703339		2203	4300	6503	SO:0001819	synonymous_variant	22798				cell adhesion	basement membrane		g.chr7:107703339C>T	AF028816	CCDS34732.1	7q31	2013-03-01			ENSG00000091128	ENSG00000091128		"Laminins"	6491	protein-coding gene	gene with protein product							Standard	NM_007356		Approved		uc010ljo.1	A4D0S4	OTTHUMG00000154874	ENST00000388781.3:c.3162G>A	7.37:g.107703339C>T						LAMB4_ENST00000388780.3_Silent_p.P1054P|LAMB4_ENST00000205386.4_Silent_p.P1054P	p.P1054P	NM_007356.2	NP_031382.2	A4D0S4	LAMB4_HUMAN			23	3245	-			1054			Laminin EGF-like 11.		A5PKU6|B2RTT3|B5MEB9|Q86TP7|Q86XN2|Q8NBX5	Silent	SNP	ENST00000388781.3	37	c.3162G>A	CCDS34732.1																																																																																				0.592	LAMB4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337442.1	XM_209857		3	26	0	0	0	1	0	3	26					T	107703339	C	T	107703339	2	4	433	1	0	0	0	0	0	0	0	1	8613	871	31	2		2	LAMB4	7	107703339	Silent	SNP	C	TCGA-XK-AAIR-01A-11D-A41K-08	29730090	107703339	51435324	17	20846											
ZNF398	57541	broad.mit.edu	37	chr7	148876613	148876613	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgtggcaagagcttcatccGcaagcaccacctaatgaaac	13	7	8	13	1	1	2	1	1	0	1	2	2	2	2	3	1	3	4	3	1	4	2	rs146764677		TCGA-XK-AAIR-01A-11D-A41K-08	TCGA-XK-AAIR-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab4e6321-19ec-44d9-aa53-2391911d92d0	bba1d69c-c2b1-4f84-82c8-b54699187c99	g.chr7:148876613G>A	ENST00000475153.1	+	6	1916	c.1649G>A	c.(1648-1650)cGc>cAc	p.R550H	ZNF398_ENST00000491174.1_Missense_Mutation_p.R379H|ZNF398_ENST00000420008.2_Missense_Mutation_p.R379H|ZNF398_ENST00000540950.1_Missense_Mutation_p.R555H|ZNF398_ENST00000483892.1_Missense_Mutation_p.R379H|ZNF398_ENST00000426851.2_Missense_Mutation_p.R379H|ZNF398_ENST00000335901.4_Missense_Mutation_p.R379H			Q8TD17	ZN398_HUMAN	zinc finger protein 398	550					positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(14)|ovary(1)	25	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00143)			AGCTTCATCCGCAAGCACCAC	0.597																																						ENST00000420008.2																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(14)|ovary(1)	25						c.(1135-1137)cGc>cAc		zinc finger protein 398		G	HIS/ARG,HIS/ARG	0,4406		0,0,2203	94	84	87		1136,1649	5.3	1	7	dbSNP_134	87	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	ZNF398	NM_020781.3,NM_170686.2	29,29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging	379/472,550/643	148876613	1,13005	2203	4300	6503	SO:0001583	missense	0				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:148876613G>A	AB037760	CCDS5894.1, CCDS47739.1	7q35	2013-01-08			ENSG00000197024	ENSG00000197024		"Zinc fingers, C2H2-type", "-"	18373	protein-coding gene	gene with protein product						11779858	Standard	NM_170686		Approved	ZER6, KIAA1339, P51, P71	uc003wfl.3	Q8TD17	OTTHUMG00000158970	ENST00000475153.1:c.1649G>A	7.37:g.148876613G>A	ENSP00000420418:p.Arg550His					ZNF398_ENST00000483892.1_Missense_Mutation_p.R379H|ZNF398_ENST00000426851.2_Missense_Mutation_p.R379H|ZNF398_ENST00000475153.1_Missense_Mutation_p.R550H|ZNF398_ENST00000540950.1_Missense_Mutation_p.R555H|ZNF398_ENST00000491174.1_Missense_Mutation_p.R379H|ZNF398_ENST00000335901.4_Missense_Mutation_p.R379H	p.R379H	NM_170686.2	NP_733787.1	Q8TD17	ZN398_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00143)		6	1924	+	Melanoma(164;0.15)		550					A8K384|B4E377|Q8TD18|Q9P2K7|Q9UDV8	Missense_Mutation	SNP	ENST00000475153.1	37	c.1136G>A	CCDS5894.1	.	.	.	.	.	.	.	.	.	.	G	18.29	3.592498	0.66219	0.0	1.16E-4	ENSG00000197024	ENST00000426851;ENST00000420008;ENST00000475153;ENST00000483892;ENST00000491174;ENST00000540950;ENST00000335901	T;T;T;T;T;T;T	0.07327	3.2;3.2;3.2;3.2;3.2;3.2;3.2	5.26	5.26	0.73747	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.51477	D	0.000085	T	0.16938	0.0407	L	0.35723	1.085	0.36877	D	0.889193	D;D	0.76494	0.962;0.999	P;D	0.68943	0.613;0.961	T	0.02646	-1.1129	10	0.52906	T	0.07	-32.9599	9.901	0.41348	0.0923:0.0:0.9077:0.0	.	555;550	B4DXA9;Q8TD17	.;ZN398_HUMAN	H	379;379;550;379;379;555;379	ENSP00000389972:R379H;ENSP00000416751:R379H;ENSP00000420418:R550H;ENSP00000418564:R379H;ENSP00000419391:R379H;ENSP00000439340:R555H;ENSP00000338984:R379H	ENSP00000338984:R379H	R	+	2	0	ZNF398	148507546	0.002000	0.14202	1.000000	0.80357	0.997000	0.91878	0.416000	0.21198	2.458000	0.83093	0.655000	0.94253	CGC		0.597	ZNF398-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352722.2			3	54	0	0	0	1	0	3	54					A	148876613	G	A	148876613	3	1	433	1	0	0	0	0	1	0	0	0	17882	1087	38	1	1671	1	ZNF398	7	148876613	Missense_Mutation	SNP	G	TCGA-XK-AAIR-01A-11D-A41K-08	41173274	148876613	10262050	18	20847											
RP1	6101	broad.mit.edu	37	chr8	55533894	55533894	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctggacaaagcccgtcggcGcccgcggccctggctcagca	6	4	13	18	5	1	0	1	0	0	0	2	1	1	1	4	4	2	2	4	4	1	0			TCGA-XK-AAIR-01A-11D-A41K-08	TCGA-XK-AAIR-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab4e6321-19ec-44d9-aa53-2391911d92d0	bba1d69c-c2b1-4f84-82c8-b54699187c99	g.chr8:55533894G>A	ENST00000220676.1	+	2	516	c.368G>A	c.(367-369)cGc>cAc	p.R123H		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	123					axoneme assembly (GO:0035082)|cellular response to light stimulus (GO:0071482)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|photoreceptor cell outer segment organization (GO:0035845)|phototransduction, visible light (GO:0007603)|retinal cone cell development (GO:0046549)|retinal rod cell development (GO:0046548)|visual perception (GO:0007601)	axoneme (GO:0005930)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)	microtubule binding (GO:0008017)			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			GCCCGTCGGCGCCCGCGGCCC	0.706																																					Colon(91;1014 1389 7634 14542 40420)	ENST00000220676.1																			0				NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169						c.(367-369)cGc>cAc		retinitis pigmentosa 1 (autosomal dominant)							29	35	33					8																	55533894		2201	4297	6498	SO:0001583	missense	6101				axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding	g.chr8:55533894G>A	AF146592	CCDS6160.1	8q12.1	2013-01-08				ENSG00000104237			10263	protein-coding gene	gene with protein product		603937				1783394	Standard	NM_006269		Approved	DCDC4A	uc003xsd.1	P56715		ENST00000220676.1:c.368G>A	8.37:g.55533894G>A	ENSP00000220676:p.Arg123His						p.R123H	NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)		2	516	+		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	123						Missense_Mutation	SNP	ENST00000220676.1	37	c.368G>A	CCDS6160.1	.	.	.	.	.	.	.	.	.	.	G	19.88	3.909128	0.72868	.	.	ENSG00000104237	ENST00000220676	D	0.86562	-2.14	4.9	2.71	0.32032	Doublecortin domain (2);	0.180201	0.27482	N	0.019173	D	0.89420	0.6710	M	0.72118	2.19	0.38844	D	0.956135	D	0.89917	1.0	D	0.65874	0.939	D	0.87634	0.2518	10	0.66056	D	0.02	-0.2532	2.2271	0.03987	0.319:0.3255:0.3555:0.0	.	123	P56715	RP1_HUMAN	H	123	ENSP00000220676:R123H	ENSP00000220676:R123H	R	+	2	0	RP1	55696447	1.000000	0.71417	0.867000	0.34043	0.449000	0.32228	2.149000	0.42244	1.020000	0.39573	0.650000	0.86243	CGC		0.706	RP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378532.2	NM_006269		5	68	0	0	0	1	0	5	68					A	55533894	G	A	55533894	3	1	433	1	0	0	0	0	1	0	0	0	13532	1087	38	1	370	1	RP1	8	55533894	Missense_Mutation	SNP	G	TCGA-XK-AAIR-01A-11D-A41K-08		55533894	90830128	19	20848											
SORCS3	22986	broad.mit.edu	37	chr10	107022173	107022173	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcagtgagccaaagtgaaaaCgcccccaaaatcacactcag	16	5	7	13	1	3	2	3	2	0	0	3	2	3	2	3	0	2	0	3	0	5	0			TCGA-XK-AAIR-01A-11D-A41K-08	TCGA-XK-AAIR-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab4e6321-19ec-44d9-aa53-2391911d92d0	bba1d69c-c2b1-4f84-82c8-b54699187c99	g.chr10:107022173C>T	ENST00000369701.3	+	26	3755	c.3528C>T	c.(3526-3528)aaC>aaT	p.N1176N		NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	1176					learning (GO:0007612)|memory (GO:0007613)|neuropeptide signaling pathway (GO:0007218)|regulation of long term synaptic depression (GO:1900452)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|neuronal postsynaptic density (GO:0097481)	neuropeptide receptor activity (GO:0008188)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		AAAGTGAAAACGCCCCCAAAA	0.512																																					NSCLC(116;1497 1690 7108 13108 14106)	ENST00000369701.3																			0				autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131						c.(3526-3528)aaC>aaT		sortilin-related VPS10 domain containing receptor 3							93	74	81					10																	107022173		2203	4300	6503	SO:0001819	synonymous_variant	22986					integral to membrane	neuropeptide receptor activity	g.chr10:107022173C>T	AB028982	CCDS7558.1	10q23-q25	2006-04-12			ENSG00000156395	ENSG00000156395			16699	protein-coding gene	gene with protein product		606285				11499680	Standard	NM_014978		Approved	KIAA1059, SORCS	uc001kyi.1	Q9UPU3	OTTHUMG00000019011	ENST00000369701.3:c.3528C>T	10.37:g.107022173C>T							p.N1176N	NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)	26	3755	+		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)	1176					Q5VXF9|Q9NQJ2	Silent	SNP	ENST00000369701.3	37	c.3528C>T	CCDS7558.1																																																																																				0.512	SORCS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050221.1	NM_014978		3	22	0	0	0	1	0	3	22					T	107022173	C	T	107022173	2	4	433	1	0	0	0	0	0	0	0	1	14932	535	19	1		1	SORCS3	10	107022173	Silent	SNP	C	TCGA-XK-AAIR-01A-11D-A41K-08		107022173	28512574	20	20849											
LSP1	4046	broad.mit.edu	37	chr11	1874395	1874395	+	Frame_Shift_Del	DEL	C	C	-																															atggcggaggcttcgagtgaCccgggtgccgaggagcggga																								rs371615334		TCGA-XK-AAIR-01A-11D-A41K-08	TCGA-XK-AAIR-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab4e6321-19ec-44d9-aa53-2391911d92d0	bba1d69c-c2b1-4f84-82c8-b54699187c99	g.chr11:1874395delC	ENST00000311604.3	+	1	196	c.21delC	c.(19-21)gacfs	p.D7fs		NM_002339.2	NP_002330.1	P33241	LSP1_HUMAN	lymphocyte-specific protein 1	7					cellular component movement (GO:0006928)|cellular defense response (GO:0006968)|chemotaxis (GO:0006935)	actin cytoskeleton (GO:0015629)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|signal transducer activity (GO:0004871)			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|prostate(1)|skin(1)	16		all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00147)|Lung(200;0.0729)|LUSC - Lung squamous cell carcinoma(625;0.0856)		CTTCGAGTGACCCGGGTGCCG	0.652																																						ENST00000311604.3																			0				haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|prostate(1)|skin(1)	16						c.(19-21)gafs		lymphocyte-specific protein 1							60	60	60					11																	1874395		2197	4295	6492	SO:0001589	frameshift_variant	4046				cellular component movement|cellular defense response	actin cytoskeleton|Golgi apparatus|plasma membrane	actin binding|signal transducer activity	g.chr11:1874395delC	M33552	CCDS31334.1, CCDS31335.1, CCDS58110.1	11p15.5	2008-02-05			ENSG00000130592	ENSG00000130592			6707	protein-coding gene	gene with protein product		153432				2174784	Standard	NM_001242932		Approved	WP34	uc001luj.3	P33241	OTTHUMG00000012252	ENST00000311604.3:c.21delC	11.37:g.1874395delC	ENSP00000308383:p.Asp7fs						p.D7fs	NM_002339.2	NP_002330.1	P33241	LSP1_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00147)|Lung(200;0.0729)|LUSC - Lung squamous cell carcinoma(625;0.0856)	1	196	+		all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	7					B3KPP1|B3KRR6|E9PBV6|E9PFP3|Q16096|Q53H48|Q6FHM3|Q9BUY8	Frame_Shift_Del	DEL	ENST00000311604.3	37	c.21delC	CCDS31334.1																																																																																				0.652	LSP1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000034045.3	NM_002339		2	4						2	4	---	---	---	---	-	1874395	C	-	1874395	7	5	433	1	0	1	0	1	0	0	0	0	9063	506	18	0	23	0	LSP1	11	1874395	Frame_Shift_Del	DEL	C	TCGA-XK-AAIR-01A-11D-A41K-08		1874395	133132121	21	20850											
GALNTL4	374378	broad.mit.edu	37	chr11	11362459	11362459	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcgttcctgcggacatgggcGgtgaggtcctctgtgtaggg	4	10	18	9	3	1	1	0	1	1	0	3	2	3	2	2	5	1	2	2	5	1	2	rs577502852		TCGA-XK-AAIR-01A-11D-A41K-08	TCGA-XK-AAIR-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab4e6321-19ec-44d9-aa53-2391911d92d0	bba1d69c-c2b1-4f84-82c8-b54699187c99	g.chr11:11362459G>A	ENST00000227756.4	-	7	1596	c.1185C>T	c.(1183-1185)acC>acT	p.T395T		NM_198516.2	NP_940918.2	Q6P9A2	GLT18_HUMAN	polypeptide N-acetylgalactosaminyltransferase 18	395					protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)										GGACATGGGCGGTGAGGTCCT	0.582													G|||	1	0.000199681	8e-04	0	5008	,	,		18390	0		0	False		,,,				2504	0					ENST00000227756.4																			0											c.(1183-1185)acC>acT		UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 18							189	182	184					11																	11362459		2201	4294	6495	SO:0001819	synonymous_variant	374378							g.chr11:11362459G>A	AK055111	CCDS7807.1	11p15	2014-03-13	2014-03-13	2013-01-25	ENSG00000110328	ENSG00000110328	2.4.1.41	"Glycosyltransferase family 2 domain containing"	30488	protein-coding gene	gene with protein product	"polypeptide GalNAc transferase 18"	615136	"UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 4", "UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 18"	GALNTL4		22186971	Standard	NM_198516		Approved	MGC71806, GALNT15, GalNAc-T18	uc001mjo.2	Q6P9A2	OTTHUMG00000165707	ENST00000227756.4:c.1185C>T	11.37:g.11362459G>A							p.T395T	NM_198516.2	NP_940918.2					7	1596	-								O95903|Q8NDY9	Silent	SNP	ENST00000227756.4	37	c.1185C>T	CCDS7807.1																																																																																				0.582	GALNT18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385848.1	NM_198516		4	139	0	0	0	1	0	4	139					A	11362459	G	A	11362459	2	1	433	1	0	0	0	0	0	0	0	1	6223	1103	39	2		2	GALNTL4	11	11362459	Silent	SNP	G	TCGA-XK-AAIR-01A-11D-A41K-08	9488064	11362459	123644057	22	20851											
OR5T2	219464	broad.mit.edu	37	chr11	56000287	56000287	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gaaatgactttattctttgtCgtaaaatctactaacatatt	14	17	4	6	1	2	1	0	1	2	0	3	2	2	1	0	0	2	1	0	0	7	9	rs373172071		TCGA-XK-AAIR-01A-11D-A41K-08	TCGA-XK-AAIR-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab4e6321-19ec-44d9-aa53-2391911d92d0	bba1d69c-c2b1-4f84-82c8-b54699187c99	g.chr11:56000287C>T	ENST00000313264.4	-	1	450	c.375G>A	c.(373-375)acG>acA	p.T125T		NM_001004746.1	NP_001004746.1	Q8NGG2	OR5T2_HUMAN	olfactory receptor, family 5, subfamily T, member 2	125			T -> M (in dbSNP:rs7122514).			integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(6)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(3)	41	Esophageal squamous(21;0.00448)					TATTCTTTGTCGTAAAATCTA	0.403																																						ENST00000313264.4																			0				endometrium(6)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(3)	41						c.(373-375)acG>acA		olfactory receptor, family 5, subfamily T, member 2		C		0,4402		0,0,2201	107	100	102		375	1.9	0	11		102	1,8591	1.2+/-3.3	0,1,4295	no	coding-synonymous	OR5T2	NM_001004746.1		0,1,6496	TT,TC,CC		0.0116,0.0,0.0077		125/360	56000287	1,12993	2201	4296	6497	SO:0001819	synonymous_variant	219464				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56000287C>T	AB065838	CCDS31523.1	11q11	2012-08-09			ENSG00000181718	ENSG00000181718		"GPCR / Class A : Olfactory receptors"	15296	protein-coding gene	gene with protein product							Standard	NM_001004746		Approved		uc010rjc.2	Q8NGG2	OTTHUMG00000166851	ENST00000313264.4:c.375G>A	11.37:g.56000287C>T							p.T125T	NM_001004746.1	NP_001004746.1	Q8NGG2	OR5T2_HUMAN			1	450	-	Esophageal squamous(21;0.00448)		125		T -> M (in dbSNP:rs7122514).			B9EGX5|Q6IFC8	Silent	SNP	ENST00000313264.4	37	c.375G>A	CCDS31523.1																																																																																				0.403	OR5T2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391598.1	NM_001004746		4	52	0	0	0	1	0	4	52					T	56000287	C	T	56000287	2	4	433	1	0	0	0	0	0	0	0	1	11182	871	31	2		2	OR5T2	11	56000287	Silent	SNP	C	TCGA-XK-AAIR-01A-11D-A41K-08	44637828	56000287	79006229	23	20852											
HSPA8	3312	broad.mit.edu	37	chr11	122930500	122930500	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agggtacgcttagcacgttcAcaagcagtacggaggcgtct	10	8	13	10	4	2	0	1	0	1	0	2	1	2	1	0	3	4	6	0	3	4	4			TCGA-XK-AAIR-01A-11D-A41K-08	TCGA-XK-AAIR-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab4e6321-19ec-44d9-aa53-2391911d92d0	bba1d69c-c2b1-4f84-82c8-b54699187c99	g.chr11:122930500A>C	ENST00000532636.1	-	5	920	c.801T>G	c.(799-801)tgT>tgG	p.C267W	HSPA8_ENST00000526862.1_Intron|HSPA8_ENST00000534319.1_Missense_Mutation_p.C31W|SNORD14C_ENST00000365382.1_RNA|HSPA8_ENST00000534624.1_Missense_Mutation_p.C267W|HSPA8_ENST00000227378.3_Missense_Mutation_p.C267W|HSPA8_ENST00000526110.1_Missense_Mutation_p.C248W|HSPA8_ENST00000453788.2_Missense_Mutation_p.C267W|SNORD14D_ENST00000384390.1_RNA|SNORD14E_ENST00000364009.1_RNA|HSPA8_ENST00000533540.1_Missense_Mutation_p.C121W			P11142	HSP7C_HUMAN	heat shock 70kDa protein 8	267	Interaction with BAG1.				ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|chaperone mediated protein folding requiring cofactor (GO:0051085)|clathrin coat disassembly (GO:0072318)|gene expression (GO:0010467)|membrane organization (GO:0061024)|mRNA metabolic process (GO:0016071)|mRNA processing (GO:0006397)|negative regulation of fibril organization (GO:1902904)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotransmitter secretion (GO:0007269)|post-Golgi vesicle-mediated transport (GO:0006892)|protein folding (GO:0006457)|protein refolding (GO:0042026)|regulation of cell cycle (GO:0051726)|response to unfolded protein (GO:0006986)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|synaptic transmission (GO:0007268)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	blood microparticle (GO:0072562)|clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane (GO:0061202)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|intracellular (GO:0005622)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|Prp19 complex (GO:0000974)|ribonucleoprotein complex (GO:0030529)|spliceosomal complex (GO:0005681)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled (GO:0042623)|enzyme binding (GO:0019899)|G-protein coupled receptor binding (GO:0001664)|heat shock protein binding (GO:0031072)|MHC class II protein complex binding (GO:0023026)|poly(A) RNA binding (GO:0044822)|ubiquitin protein ligase binding (GO:0031625)|unfolded protein binding (GO:0051082)			breast(1)|central_nervous_system(7)|endometrium(1)|kidney(9)|large_intestine(4)|lung(13)|upper_aerodigestive_tract(1)	36		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		TAGCACGTTCACAAGCAGTAC	0.478																																					Colon(21;486 594 5900 6733 14272)	ENST00000534624.1																			0				breast(1)|central_nervous_system(7)|endometrium(1)|kidney(9)|large_intestine(4)|lung(13)|upper_aerodigestive_tract(1)	36						c.(799-801)tgT>tgG		heat shock 70kDa protein 8							83	73	76					11																	122930500		2202	4299	6501	SO:0001583	missense	3312				cellular membrane organization|interspecies interaction between organisms|mRNA metabolic process|negative regulation of transcription, DNA-dependent|neurotransmitter secretion|post-Golgi vesicle-mediated transport|protein folding|response to unfolded protein|transcription, DNA-dependent	cell surface|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|melanosome|plasma membrane|ribonucleoprotein complex	ATP binding|ATPase activity, coupled|protein binding	g.chr11:122930500A>C	Y00371	CCDS8440.1, CCDS44754.1	11q24.1	2011-09-02	2002-08-29		ENSG00000109971	ENSG00000109971		"Heat shock proteins / HSP70"	5241	protein-coding gene	gene with protein product		600816	"heat shock 70kD protein 8"	HSPA10		8530083, 3037489	Standard	NM_006597		Approved	HSC71, HSC70, HSP73	uc001pyo.3	P11142	OTTHUMG00000166030	ENST00000532636.1:c.801T>G	11.37:g.122930500A>C	ENSP00000437125:p.Cys267Trp					HSPA8_ENST00000526862.1_Intron|HSPA8_ENST00000526110.1_Missense_Mutation_p.C248W|HSPA8_ENST00000453788.2_Missense_Mutation_p.C267W|HSPA8_ENST00000227378.3_Missense_Mutation_p.C267W|HSPA8_ENST00000534319.1_Missense_Mutation_p.C31W|HSPA8_ENST00000533540.1_Missense_Mutation_p.C121W|HSPA8_ENST00000532636.1_Missense_Mutation_p.C267W	p.C267W	NM_006597.4	NP_006588.1	P11142	HSP7C_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)	5	1077	-		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	267			Interaction with BAG1.		Q9H3R6	Missense_Mutation	SNP	ENST00000532636.1	37	c.801T>G	CCDS8440.1	.	.	.	.	.	.	.	.	.	.	A	15.78	2.935238	0.52866	.	.	ENSG00000109971	ENST00000532636;ENST00000533540;ENST00000534624;ENST00000453788;ENST00000227378;ENST00000534319;ENST00000526110;ENST00000528292	T;T;T;T;T;T;T;T	0.01139	5.28;5.28;5.28;5.28;5.28;5.28;5.28;5.28	4.74	0.94	0.19513	.	0.000000	0.85682	D	0.000000	T	0.13500	0.0327	H	0.99650	4.68	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.997;0.995;0.999	T	0.05835	-1.0861	10	0.87932	D	0	-12.9197	10.0597	0.42266	0.6442:0.0:0.3558:0.0	.	267;267;267;267	Q53GZ6;E7ET08;P11142-2;P11142	.;.;.;HSP7C_HUMAN	W	267;121;267;267;267;31;248;207	ENSP00000437125:C267W;ENSP00000437189:C121W;ENSP00000432083:C267W;ENSP00000404372:C267W;ENSP00000227378:C267W;ENSP00000433316:C31W;ENSP00000433584:C248W;ENSP00000432884:C207W	ENSP00000227378:C267W	C	-	3	2	HSPA8	122435710	0.978000	0.34361	0.997000	0.53966	0.811000	0.45836	0.296000	0.19083	-0.035000	0.13691	-0.379000	0.06801	TGT		0.478	HSPA8-004	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000387515.1			6	36	0	0	0	1	0	6	36					C	122930500	A	C	122930500	3	2	433	1	0	0	0	0	1	0	0	0	7416	157	6	5	1159	5	HSPA8	11	122930500	Missense_Mutation	SNP	A	TCGA-XK-AAIR-01A-11D-A41K-08	66930213	122930500	12076016	24	20853											
FRMD6	122786	broad.mit.edu	37	chr14	52179204	52179204	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gcatattcttttcacagaatTtagatgaagagaaacaatta	17	13	6	5	0	2	4	1	1	1	3	2	5	2	4	0	0	1	1	0	0	7	7			TCGA-XK-AAIR-01A-11D-A41K-08	TCGA-XK-AAIR-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab4e6321-19ec-44d9-aa53-2391911d92d0	bba1d69c-c2b1-4f84-82c8-b54699187c99	g.chr14:52179204T>G	ENST00000344768.5	+	9	980	c.784T>G	c.(784-786)Tta>Gta	p.L262V	FRMD6_ENST00000395718.2_Missense_Mutation_p.L254V|FRMD6_ENST00000356218.4_Missense_Mutation_p.L254V|FRMD6_ENST00000554167.1_Missense_Mutation_p.L185V			Q96NE9	FRMD6_HUMAN	FERM domain containing 6	262	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				apical constriction (GO:0003383)|cellular protein localization (GO:0034613)|regulation of actin filament-based process (GO:0032970)	apical junction complex (GO:0043296)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(7)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_epithelial(31;0.0163)|Breast(41;0.089)					TTCACAGAATTTAGATGAAGA	0.303																																						ENST00000395718.2																			0				breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(7)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						c.(760-762)Tta>Gta		FERM domain containing 6							84	86	86					14																	52179204		2202	4295	6497	SO:0001583	missense	122786					cytoskeleton|mitochondrion|plasma membrane	binding	g.chr14:52179204T>G	BI465118	CCDS9704.1, CCDS58318.1, CCDS58319.1	14q22.1	2011-06-22	2005-07-20	2005-07-20	ENSG00000139926	ENSG00000139926			19839	protein-coding gene	gene with protein product	"expanded homolog"	614555	"chromosome 14 open reading frame 31"	C14orf31			Standard	NM_152330		Approved	MGC17921, willin, EX1	uc001wzd.3	Q96NE9	OTTHUMG00000140294	ENST00000344768.5:c.784T>G	14.37:g.52179204T>G	ENSP00000343899:p.Leu262Val					FRMD6_ENST00000356218.4_Missense_Mutation_p.L254V|FRMD6_ENST00000554167.1_Missense_Mutation_p.L185V|FRMD6_ENST00000344768.5_Missense_Mutation_p.L262V	p.L254V	NM_001267046.1|NM_152330.3	NP_001253975.1|NP_689543.1	Q96NE9	FRMD6_HUMAN			9	1045	+	all_epithelial(31;0.0163)|Breast(41;0.089)		262			FERM.		D3DSB9|Q5HYF2|Q8N2X1|Q8WUH7	Missense_Mutation	SNP	ENST00000344768.5	37	c.760T>G	CCDS58318.1	.	.	.	.	.	.	.	.	.	.	T	1.653	-0.513514	0.04200	.	.	ENSG00000139926	ENST00000356218;ENST00000395718;ENST00000344768;ENST00000554167	D;D;D;D	0.82081	-1.57;-1.57;-1.57;-1.57	5.61	0.0621	0.14343	FERM, C-terminal PH-like domain (1);FERM domain (1);Pleckstrin homology-type (1);	0.316636	0.30365	N	0.009786	T	0.38026	0.1025	N	0.00075	-2.25	0.21445	N	0.999685	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.0;0.001;0.0	T	0.52668	-0.8545	10	0.23302	T	0.38	.	1.5595	0.02592	0.1203:0.2249:0.2181:0.4367	.	185;262;254	G3V4T7;Q96NE9;Q96NE9-2	.;FRMD6_HUMAN;.	V	254;254;262;185	ENSP00000348550:L254V;ENSP00000379068:L254V;ENSP00000343899:L262V;ENSP00000451977:L185V	ENSP00000343899:L262V	L	+	1	2	FRMD6	51248954	0.990000	0.36364	0.999000	0.59377	0.915000	0.54546	0.538000	0.23160	0.130000	0.18549	0.482000	0.46254	TTA		0.303	FRMD6-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000276881.1	NM_152330		4	16	0	0	0	1	0	4	16					G	52179204	T	G	52179204	3	3	433	1	0	0	0	0	1	0	0	0	6054	1838	64	5	790	5	FRMD6	14	52179204	Missense_Mutation	SNP	T	TCGA-XK-AAIR-01A-11D-A41K-08		52179204	55170336	25	20854											
SEL1L	6400	broad.mit.edu	37	chr14	81950619	81950619	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atatcccagattaaacatagCttgtgcactgtgttgctgct	10	14	8	9	0	0	1	0	0	0	1	1	1	1	1	1	0	5	5	1	0	4	5			TCGA-XK-AAIR-01A-11D-A41K-08	TCGA-XK-AAIR-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab4e6321-19ec-44d9-aa53-2391911d92d0	bba1d69c-c2b1-4f84-82c8-b54699187c99	g.chr14:81950619C>A	ENST00000336735.4	-	19	2112	c.1996G>T	c.(1996-1998)Gct>Tct	p.A666S		NM_005065.5	NP_005056.3	Q9UBV2	SE1L1_HUMAN	sel-1 suppressor of lin-12-like (C. elegans)	666	Interaction with ERLEC1, OS9 and SYVN1.				Notch signaling pathway (GO:0007219)|response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(3)	28				BRCA - Breast invasive adenocarcinoma(234;0.0299)		TTAAACATAGCTTGTGCACTG	0.428																																						ENST00000336735.4																			0				breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(3)	28						c.(1996-1998)Gct>Tct		sel-1 suppressor of lin-12-like (C. elegans)							301	293	296					14																	81950619		2203	4300	6503	SO:0001583	missense	6400				Notch signaling pathway	endoplasmic reticulum membrane|integral to membrane	protein binding	g.chr14:81950619C>A		CCDS9876.1, CCDS58333.1	14q31	2011-03-31	2001-11-28		ENSG00000071537	ENSG00000071537			10717	protein-coding gene	gene with protein product	"sel-1 suppressor of lin-12-like 1 (C. elegans)"	602329	"sel-1 (suppressor of lin-12, C.elegans)-like"			9417916, 10051412, 16331677	Standard	NM_005065		Approved	IBD2, SEL1L1	uc010tvv.2	Q9UBV2		ENST00000336735.4:c.1996G>T	14.37:g.81950619C>A	ENSP00000337053:p.Ala666Ser						p.A666S	NM_005065.5	NP_005056.3	Q9UBV2	SE1L1_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0299)	19	2112	-			666			Interaction with ERLEC1, OS9 and SYVN1.		Q6UWT6|Q9P1T9|Q9UHK7	Missense_Mutation	SNP	ENST00000336735.4	37	c.1996G>T	CCDS9876.1	.	.	.	.	.	.	.	.	.	.	C	35	5.425161	0.96131	.	.	ENSG00000071537	ENST00000336735;ENST00000261258	T	0.61392	0.11	5.92	5.92	0.95590	Tetratricopeptide-like helical (1);	0.000000	0.85682	D	0.000000	T	0.78027	0.4219	M	0.75884	2.315	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.78201	-0.2296	10	0.66056	D	0.02	.	20.3167	0.98654	0.0:1.0:0.0:0.0	.	666	Q9UBV2	SE1L1_HUMAN	S	666;27	ENSP00000337053:A666S	ENSP00000261258:A27S	A	-	1	0	SEL1L	81020372	1.000000	0.71417	0.860000	0.33809	0.989000	0.77384	7.379000	0.79691	2.809000	0.96659	0.557000	0.71058	GCT		0.428	SEL1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413325.1	NM_005065		4	219	1	0	1	1	1	4	219					A	81950619	C	A	81950619	3	1	433	1	0	0	0	0	1	0	0	0	14010	797	28	5	400	5	SEL1L	14	81950619	Missense_Mutation	SNP	C	TCGA-XK-AAIR-01A-11D-A41K-08	29771415	81950619	25398921	26	20855											
C15orf2	23742	broad.mit.edu	37	chr15	24921147	24921147	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcactctgtacccaccccgCgccctttccgcggcctgttc	3	10	7	21	4	2	0	1	0	1	0	4	0	3	0	6	1	1	2	6	1	1	3			TCGA-XK-AAIR-01A-11D-A41K-08	TCGA-XK-AAIR-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab4e6321-19ec-44d9-aa53-2391911d92d0	bba1d69c-c2b1-4f84-82c8-b54699187c99	g.chr15:24921147C>T	ENST00000329468.2	+	1	607	c.133C>T	c.(133-135)Cgc>Tgc	p.R45C		NM_018958.2	NP_061831.2	Q9NZP6	NPAP1_HUMAN	nuclear pore associated protein 1	45					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)		p.R45C(1)									ACCCACCCCGCGCCCTTTCCG	0.761																																						ENST00000329468.2																			1	Substitution - Missense(1)	p.R45C(1)	large_intestine(1)								c.(133-135)Cgc>Tgc		nuclear pore associated protein 1							11	14	13					15																	24921147		2139	4164	6303	SO:0001583	missense	23742							g.chr15:24921147C>T	AF179681	CCDS10015.1	15q11-q13	2012-07-19	2012-06-14	2012-06-14	ENSG00000185823	ENSG00000185823			1190	protein-coding gene	gene with protein product		610922	"chromosome 15 open reading frame 2"	C15orf2		10783265, 22694955	Standard	NM_018958		Approved		uc001ywo.3	Q9NZP6	OTTHUMG00000129179	ENST00000329468.2:c.133C>T	15.37:g.24921147C>T	ENSP00000333735:p.Arg45Cys						p.R45C	NM_018958.2	NP_061831.2					1	607	+									Missense_Mutation	SNP	ENST00000329468.2	37	c.133C>T	CCDS10015.1	.	.	.	.	.	.	.	.	.	.	.	13.85	2.361417	0.41801	.	.	ENSG00000185823	ENST00000329468	T	0.07327	3.2	2.14	-4.28	0.03732	.	2.777100	0.01720	N	0.028204	T	0.05914	0.0154	N	0.22421	0.69	0.09310	N	1	B	0.13145	0.007	B	0.04013	0.001	T	0.35025	-0.9805	10	0.54805	T	0.06	.	3.9791	0.09487	0.0:0.2566:0.3614:0.382	.	45	Q9NZP6	CO002_HUMAN	C	45	ENSP00000333735:R45C	ENSP00000333735:R45C	R	+	1	0	C15orf2	22472240	0.000000	0.05858	0.000000	0.03702	0.028000	0.11728	-0.364000	0.07583	-1.295000	0.02357	0.305000	0.20034	CGC		0.761	NPAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251253.1	NM_018958		3	20	0	0	0	1	0	3	20					T	24921147	C	T	24921147	3	4	433	1	0	0	0	0	1	0	0	0	1784	768	27	1	135	1	C15orf2	15	24921147	Missense_Mutation	SNP	C	TCGA-XK-AAIR-01A-11D-A41K-08		24921147	77610245	27	20856											
USP6	9098	broad.mit.edu	37	chr17	5048842	5048842	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttttgtctttgccactacCaatggacagttacatggact	9	16	7	9	0	1	0	0	0	1	0	1	2	1	2	2	2	3	1	2	2	3	6			TCGA-XK-AAIR-01A-11D-A41K-08	TCGA-XK-AAIR-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab4e6321-19ec-44d9-aa53-2391911d92d0	bba1d69c-c2b1-4f84-82c8-b54699187c99	g.chr17:5048842C>A	ENST00000574788.1	+	27	4365	c.2135C>A	c.(2134-2136)cCa>cAa	p.P712Q	USP6_ENST00000250066.6_Missense_Mutation_p.P712Q|USP6_ENST00000304328.5_Missense_Mutation_p.P395Q|USP6_ENST00000332776.4_Missense_Mutation_p.P712Q			P35125	UBP6_HUMAN	ubiquitin specific peptidase 6	712	USP.				cellular protein modification process (GO:0006464)|protein deubiquitination (GO:0016579)|regulation of vesicle-mediated transport (GO:0060627)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	calmodulin binding (GO:0005516)|cysteine-type endopeptidase activity (GO:0004197)|nucleic acid binding (GO:0003676)|Rab GTPase activator activity (GO:0005097)|ubiquitin-specific protease activity (GO:0004843)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						TTGCCACTACCAATGGACAGT	0.348			T	"COL1A1, CDH11, ZNF9, OMD"	aneurysmal bone cysts																																	ENST00000574788.1				Dom	yes		17	17p13	9098	T	ubiquitin specific peptidase 6 (Tre-2 oncogene)			M	"COL1A1, CDH11, ZNF9, OMD"		aneurysmal bone cysts		0				breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						c.(2134-2136)cCa>cAa		ubiquitin specific peptidase 6 (Tre-2 oncogene)							97	87	90					17																	5048842		2203	4300	6503	SO:0001583	missense	9098				protein deubiquitination|regulation of vesicle-mediated transport|ubiquitin-dependent protein catabolic process	lysosome|plasma membrane|recycling endosome	calmodulin binding|cysteine-type endopeptidase activity|nucleic acid binding|protein binding|Rab GTPase activator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr17:5048842C>A	X63547	CCDS11069.2	17p13	2014-06-12	2014-06-12		ENSG00000129204	ENSG00000129204	3.4.19.12	"Ubiquitin-specific peptidases"	12629	protein-coding gene	gene with protein product	"ubiquitin carboxyl-terminal hydrolase 6", "TBC1D3 and USP32 fusion", "Tre-2 oncogene"	604334	"ubiquitin specific protease 6 (Tre-2 oncogene)", "TRE oncogene, Smith Magenis syndrome chromosome region", "ubiquitin specific peptidase 6 (Tre-2 oncogene)"	HRP1, TRESMCR		12838346, 1349106	Standard	NM_004505		Approved	Tre-2, TRE17, Tre2	uc002gav.1	P35125	OTTHUMG00000099449	ENST00000574788.1:c.2135C>A	17.37:g.5048842C>A	ENSP00000460380:p.Pro712Gln					USP6_ENST00000332776.4_Missense_Mutation_p.P712Q|USP6_ENST00000304328.5_Missense_Mutation_p.P395Q|USP6_ENST00000250066.6_Missense_Mutation_p.P712Q	p.P712Q			P35125	UBP6_HUMAN			27	4365	+			712					Q15634|Q86WP6|Q8IWT4	Missense_Mutation	SNP	ENST00000574788.1	37	c.2135C>A	CCDS11069.2	.	.	.	.	.	.	.	.	.	.	C	14.95	2.687680	0.48097	.	.	ENSG00000129204	ENST00000332776;ENST00000250066;ENST00000304328	T;T;T	0.37584	1.19;3.89;3.89	2.55	2.55	0.30701	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.000000	0.85682	D	0.000000	T	0.57359	0.2048	M	0.78049	2.395	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.91635	0.997;0.999	T	0.63019	-0.6730	10	0.87932	D	0	.	10.8671	0.46862	0.0:1.0:0.0:0.0	.	395;712	P35125-2;P35125	.;UBP6_HUMAN	Q	712;712;395	ENSP00000328010:P712Q;ENSP00000250066:P712Q;ENSP00000305473:P395Q	ENSP00000250066:P712Q	P	+	2	0	USP6	4989566	1.000000	0.71417	1.000000	0.80357	0.343000	0.28985	7.544000	0.82117	1.433000	0.47394	0.194000	0.17425	CCA		0.348	USP6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438990.1	NM_004505		6	57	1	0	0.0215528	1	0.0225791	6	57					A	5048842	C	A	5048842	3	1	433	1	0	0	0	0	1	0	0	0	17083	594	21	5	2205	5	USP6	17	5048842	Missense_Mutation	SNP	C	TCGA-XK-AAIR-01A-11D-A41K-08		5048842	76146368	28	20857											
CNTROB	116840	broad.mit.edu	37	chr17	7849197	7849197	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gctacctggagcgcctcctgTtctttgcagttcctcctcag	4	13	9	15	1	2	0	1	0	1	0	5	1	5	1	5	1	3	4	5	1	1	4			TCGA-XK-AAIR-01A-11D-A41K-08	TCGA-XK-AAIR-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab4e6321-19ec-44d9-aa53-2391911d92d0	bba1d69c-c2b1-4f84-82c8-b54699187c99	g.chr17:7849197T>G	ENST00000563694.1	+	13	2811	c.1886T>G	c.(1885-1887)gTt>gGt	p.V629G	CNTROB_ENST00000380262.3_Missense_Mutation_p.V629G|CNTROB_ENST00000380255.3_3'UTR|CNTROB_ENST00000565740.1_Missense_Mutation_p.V629G	NM_053051.3	NP_444279.2	Q8N137	CNTRB_HUMAN	centrobin, centrosomal BRCA2 interacting protein	629	Pro-rich.|Required for centrosome localization.				centriole replication (GO:0007099)|centrosome separation (GO:0051299)|cytokinesis (GO:0000910)	centriole (GO:0005814)|centrosome (GO:0005813)|cytoplasm (GO:0005737)	protein domain specific binding (GO:0019904)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)	25		Prostate(122;0.173)				GCGCCTCCTGTTCTTTGCAGT	0.587																																						ENST00000380262.3																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)	25						c.(1885-1887)gTt>gGt		centrobin, centrosomal BRCA2 interacting protein							142	136	138					17																	7849197		2203	4300	6503	SO:0001583	missense	116840				centriole replication|centrosome separation|cytokinesis	centriole	protein domain specific binding	g.chr17:7849197T>G	AF331638	CCDS32557.1, CCDS11126.1	17p13.1	2006-03-15				ENSG00000170037			29616	protein-coding gene	gene with protein product	"centrobin"	611425				11984006, 16275750	Standard	NM_001037144		Approved	LIP8, PP1221	uc002gjp.3	Q8N137		ENST00000563694.1:c.1886T>G	17.37:g.7849197T>G	ENSP00000456335:p.Val629Gly					CNTROB_ENST00000563694.1_Missense_Mutation_p.V629G|CNTROB_ENST00000565740.1_Missense_Mutation_p.V629G|CNTROB_ENST00000380255.3_3'UTR	p.V629G	NM_001037144.5	NP_001032221.1	Q8N137	CNTRB_HUMAN			13	2811	+		Prostate(122;0.173)	629			Pro-rich.|Required for centrosome localization.		A6NHQ1|Q331K3|Q69YV7|Q8NCB8|Q8WXV3|Q96CQ7|Q9C060	Missense_Mutation	SNP	ENST00000563694.1	37	c.1886T>G	CCDS11126.1	.	.	.	.	.	.	.	.	.	.	T	10.81	1.455528	0.26161	.	.	ENSG00000170037	ENST00000380262	T	0.38401	1.14	5.48	-1.73	0.08081	.	1.063140	0.07389	N	0.888730	T	0.22704	0.0548	N	0.24115	0.695	0.09310	N	1	B;B;B	0.22983	0.032;0.032;0.078	B;B;B	0.24701	0.055;0.055;0.055	T	0.35649	-0.9780	10	0.72032	D	0.01	-0.0114	4.4853	0.11787	0.4289:0.1585:0.0:0.4126	.	629;629;629	Q8N137-3;Q8N137;Q8N137-2	.;CNTRB_HUMAN;.	G	629	ENSP00000369614:V629G	ENSP00000369614:V629G	V	+	2	0	CNTROB	7789922	0.000000	0.05858	0.000000	0.03702	0.720000	0.41350	-0.064000	0.11636	-0.170000	0.10816	0.459000	0.35465	GTT		0.587	CNTROB-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000421372.1	NM_053051		4	77	0	0	0	1	0	4	77					G	7849197	T	G	7849197	3	3	433	1	0	0	0	0	1	0	0	0	3651	1725	60	5	1936	5	CNTROB	17	7849197	Missense_Mutation	SNP	T	TCGA-XK-AAIR-01A-11D-A41K-08	2800355	7849197	73346013	29	20858											
MYO15A	51168	broad.mit.edu	37	chr17	18047889	18047889	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgagcaccatgcagaagccGtgagcatcttcaagctggta	11	7	11	12	2	2	2	1	1	1	1	2	3	2	2	3	1	5	5	3	1	3	2	rs369781492		TCGA-XK-AAIR-01A-11D-A41K-08	TCGA-XK-AAIR-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab4e6321-19ec-44d9-aa53-2391911d92d0	bba1d69c-c2b1-4f84-82c8-b54699187c99	g.chr17:18047889G>A	ENST00000205890.5	+	29	6594	c.6256G>A	c.(6256-6258)Gtg>Atg	p.V2086M	snoU13_ENST00000459354.1_RNA	NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	2086	MyTH4 1. {ECO:0000255|PROSITE- ProRule:PRU00359}.|Tail.				inner ear morphogenesis (GO:0042472)|locomotory behavior (GO:0007626)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|stereocilium (GO:0032420)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					TGCAGAAGCCGTGAGCATCTT	0.607																																						ENST00000205890.5																			0				breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99						c.(6256-6258)Gtg>Atg		myosin XVA		G	MET/VAL	0,4072		0,0,2036	81	93	89		6256	-3.5	0	17		89	2,8388		0,2,4193	no	missense	MYO15A	NM_016239.3	21	0,2,6229	AA,AG,GG		0.0238,0.0,0.016	possibly-damaging	2086/3531	18047889	2,12460	2036	4195	6231	SO:0001583	missense	51168				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity	g.chr17:18047889G>A	AF144094	CCDS42271.1	17p11.2	2011-09-27			ENSG00000091536	ENSG00000091536		"Myosins / Myosin superfamily : Class XV"	7594	protein-coding gene	gene with protein product		602666		DFNB3, MYO15		9603736	Standard	NM_016239		Approved		uc021trl.1	Q9UKN7	OTTHUMG00000059390	ENST00000205890.5:c.6256G>A	17.37:g.18047889G>A	ENSP00000205890:p.Val2086Met						p.V2086M	NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN			29	6594	+	all_neural(463;0.228)		2086			MyTH4 1.|Tail.		B4DFC7	Missense_Mutation	SNP	ENST00000205890.5	37	c.6256G>A	CCDS42271.1	.	.	.	.	.	.	.	.	.	.	G	10.14	1.269499	0.23221	0.0	2.38E-4	ENSG00000091536	ENST00000205890	D	0.89415	-2.51	5.47	-3.5	0.04710	MyTH4 domain (2);	.	.	.	.	D	0.83431	0.5253	M	0.76838	2.35	0.40525	D	0.980877	P	0.36144	0.539	B	0.21917	0.037	T	0.77760	-0.2467	9	0.66056	D	0.02	.	8.2448	0.31682	0.3627:0.4817:0.1556:0.0	.	2086	Q9UKN7	MYO15_HUMAN	M	2086	ENSP00000205890:V2086M	ENSP00000205890:V2086M	V	+	1	0	MYO15A	17988614	0.000000	0.05858	0.009000	0.14445	0.415000	0.31203	-0.412000	0.07132	-0.013000	0.14199	0.655000	0.94253	GTG		0.607	MYO15A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132048.1	NM_016239		5	30	0	0	0	1	0	5	30					A	18047889	G	A	18047889	3	1	433	1	0	0	0	0	1	0	0	0	10063	1145	40	1	6362	1	MYO15A	17	18047889	Missense_Mutation	SNP	G	TCGA-XK-AAIR-01A-11D-A41K-08	10198692	18047889	63147321	30	20859											
AMZ2	51321	broad.mit.edu	37	chr17	66251917	66251917	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atgcctcatgcaaggctccaAccacttggaagaagctgacc	12	7	9	13	0	1	2	1	1	0	1	2	3	2	3	4	2	4	3	4	2	4	1			TCGA-XK-AAIR-01A-11D-A41K-08	TCGA-XK-AAIR-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab4e6321-19ec-44d9-aa53-2391911d92d0	bba1d69c-c2b1-4f84-82c8-b54699187c99	g.chr17:66251917A>G	ENST00000359904.3	+	6	1959	c.827A>G	c.(826-828)aAc>aGc	p.N276S	AMZ2_ENST00000577866.1_Missense_Mutation_p.N276S|AMZ2_ENST00000585050.1_Intron|AMZ2_ENST00000580753.1_Missense_Mutation_p.N276S|AMZ2_ENST00000392720.2_Missense_Mutation_p.N276S|AMZ2_ENST00000577273.1_Intron|AMZ2_ENST00000359783.4_Missense_Mutation_p.N218S|AMZ2_ENST00000577985.1_Missense_Mutation_p.N276S	NM_016627.4	NP_057711.3	Q86W34	AMZ2_HUMAN	archaelysin family metallopeptidase 2	276							metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)	9	all_cancers(12;1.12e-09)		BRCA - Breast invasive adenocarcinoma(8;3.17e-08)|LUSC - Lung squamous cell carcinoma(166;0.24)			CAAGGCTCCAACCACTTGGAA	0.488																																						ENST00000359904.3																			0				breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)	9						c.(826-828)aAc>aGc		archaelysin family metallopeptidase 2							94	86	89					17																	66251917		2203	4300	6503	SO:0001583	missense	51321						metallopeptidase activity|zinc ion binding	g.chr17:66251917A>G	CR609550	CCDS11674.1, CCDS32714.1	17q24.2	2010-04-08			ENSG00000196704	ENSG00000196704			28041	protein-coding gene	gene with protein product	"archaemetzincin-2"	615169				15972818	Standard	XM_005257436		Approved		uc002jgr.1	Q86W34		ENST00000359904.3:c.827A>G	17.37:g.66251917A>G	ENSP00000352976:p.Asn276Ser					AMZ2_ENST00000577866.1_Missense_Mutation_p.N276S|AMZ2_ENST00000577273.1_Intron|AMZ2_ENST00000585050.1_Intron|AMZ2_ENST00000392720.2_Missense_Mutation_p.N276S|AMZ2_ENST00000359783.4_Missense_Mutation_p.N218S|AMZ2_ENST00000577985.1_Missense_Mutation_p.N276S|AMZ2_ENST00000580753.1_Missense_Mutation_p.N276S	p.N276S	NM_016627.4	NP_057711.3	Q86W34	AMZ2_HUMAN	BRCA - Breast invasive adenocarcinoma(8;3.17e-08)|LUSC - Lung squamous cell carcinoma(166;0.24)		6	1959	+	all_cancers(12;1.12e-09)		276					A6NLD9|B3KR44|Q5XKF1|Q9NZE2	Missense_Mutation	SNP	ENST00000359904.3	37	c.827A>G	CCDS11674.1	.	.	.	.	.	.	.	.	.	.	A	15.91	2.972600	0.53614	.	.	ENSG00000196704	ENST00000359904;ENST00000359783;ENST00000392720	T;T;T	0.40225	1.04;1.04;1.04	3.64	2.55	0.30701	Metallopeptidase, catalytic domain (1);	0.000000	0.64402	D	0.000001	T	0.45155	0.1328	M	0.67517	2.055	0.80722	D	1	P;P	0.47253	0.892;0.722	P;P	0.51055	0.657;0.478	T	0.33111	-0.9881	10	0.18710	T	0.47	-19.4694	7.3461	0.26664	0.8892:0.0:0.1108:0.0	.	218;276	A6NLD9;Q86W34	.;AMZ2_HUMAN	S	276;218;276	ENSP00000352976:N276S;ENSP00000352831:N218S;ENSP00000376481:N276S	ENSP00000352831:N218S	N	+	2	0	AMZ2	63763512	1.000000	0.71417	1.000000	0.80357	0.803000	0.45373	4.458000	0.60095	0.745000	0.32763	0.383000	0.25322	AAC		0.488	AMZ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448261.1	NM_016627		11	63	0	0	0	1	0	11	63					G	66251917	A	G	66251917	3	3	433	1	0	0	0	0	1	0	0	0	597	43	2	4	845	4	AMZ2	17	66251917	Missense_Mutation	SNP	A	TCGA-XK-AAIR-01A-11D-A41K-08	48204028	66251917	14943293	31	20860											
ABCA8	10351	broad.mit.edu	37	chr17	66890448	66890448	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gcatgctaacgaaaagctgtAattctaaaatataacaagta	19	10	6	6	1	1	0	0	0	1	0	1	1	1	0	0	0	4	5	0	0	10	7			TCGA-XK-AAIR-01A-11D-A41K-08	TCGA-XK-AAIR-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab4e6321-19ec-44d9-aa53-2391911d92d0	bba1d69c-c2b1-4f84-82c8-b54699187c99	g.chr17:66890448A>C	ENST00000269080.2	-	21	2919	c.2782T>G	c.(2782-2784)Tac>Gac	p.Y928D	ABCA8_ENST00000430352.2_Missense_Mutation_p.Y968D|ABCA8_ENST00000586539.1_Missense_Mutation_p.Y968D	NM_007168.2	NP_009099.1	O94911	ABCA8_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 8	928					transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)			breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4)	83	Breast(10;4.56e-13)					GAAAAGCTGTAATTCTAAAAT	0.303																																						ENST00000269080.2																			0				breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4)	83						c.(2782-2784)Tac>Gac		ATP-binding cassette, sub-family A (ABC1), member 8							49	45	46					17																	66890448		2203	4300	6503	SO:0001583	missense	10351					integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr17:66890448A>C	AB020629	CCDS11680.1, CCDS74138.1, CCDS74139.1	17q24	2012-03-14			ENSG00000141338	ENSG00000141338		"ATP binding cassette transporters / subfamily A"	38	protein-coding gene	gene with protein product		612505					Standard	XM_005256938		Approved	KIAA0822	uc002jhp.3	O94911		ENST00000269080.2:c.2782T>G	17.37:g.66890448A>C	ENSP00000269080:p.Tyr928Asp					ABCA8_ENST00000430352.2_Missense_Mutation_p.Y968D|ABCA8_ENST00000586539.1_Missense_Mutation_p.Y968D	p.Y928D	NM_007168.2	NP_009099.1	O94911	ABCA8_HUMAN			21	2919	-	Breast(10;4.56e-13)		928					A1L3U3|C9JQE6|Q86WW0	Missense_Mutation	SNP	ENST00000269080.2	37	c.2782T>G	CCDS11680.1	.	.	.	.	.	.	.	.	.	.	A	16.76	3.212142	0.58452	.	.	ENSG00000141338	ENST00000269080;ENST00000430352;ENST00000541225	D;D	0.87256	-2.23;-2.23	5.08	2.8	0.32819	.	0.416718	0.20391	N	0.093243	D	0.91205	0.7229	M	0.82193	2.58	0.09310	N	1	D;D;D;P;P	0.57571	0.975;0.98;0.957;0.949;0.727	P;D;P;P;P	0.63381	0.885;0.914;0.786;0.885;0.593	T	0.82112	-0.0618	10	0.38643	T	0.18	.	6.9963	0.24784	0.8166:0.0:0.1834:0.0	.	907;968;968;968;928	F5H6Z4;A1L3U3;B4DJ11;C9JQE6;O94911	.;.;.;.;ABCA8_HUMAN	D	928;968;907	ENSP00000269080:Y928D;ENSP00000402814:Y968D	ENSP00000269080:Y928D	Y	-	1	0	ABCA8	64402043	0.001000	0.12720	0.039000	0.18376	0.595000	0.36748	0.622000	0.24433	0.459000	0.27016	0.533000	0.62120	TAC		0.303	ABCA8-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000450172.1	NM_007168		4	23	0	0	0	1	0	4	23					C	66890448	A	C	66890448	3	2	433	1	0	0	0	0	1	0	0	0	38	362	13	5	2035	5	ABCA8	17	66890448	Missense_Mutation	SNP	A	TCGA-XK-AAIR-01A-11D-A41K-08	638531	66890448	14304762	32	20861											
SIRPB2	284759	broad.mit.edu	37	chr20	1459194	1459194	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aagacagtgtctccagtggtCcccaacaccaattcctgggg	10	8	10	13	0	1	1	0	0	1	1	4	1	3	1	5	3	1	0	5	3	3	1			TCGA-XK-AAIR-01A-11D-A41K-08	TCGA-XK-AAIR-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab4e6321-19ec-44d9-aa53-2391911d92d0	bba1d69c-c2b1-4f84-82c8-b54699187c99	g.chr20:1459194C>A	ENST00000359801.3	-	3	546	c.510G>T	c.(508-510)ggG>ggT	p.G170G	SIRPB2_ENST00000608747.1_5'UTR|SIRPB2_ENST00000537284.1_Silent_p.G32G|SIRPB2_ENST00000444444.2_Silent_p.G72G	NM_001122962.1	NP_001116434.1	Q9P1W8	SIRPG_HUMAN	signal-regulatory protein beta 2	43	Ig-like C1-type 1.				blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|intracellular signal transduction (GO:0035556)|leukocyte migration (GO:0050900)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of T cell activation (GO:0050870)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)				endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						CTCCAGTGGTCCCCAACACCA	0.587																																						ENST00000359801.3																			0				endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						c.(508-510)ggG>ggT		signal-regulatory protein beta 2							66	59	61					20																	1459194		1568	3582	5150	SO:0001819	synonymous_variant	284759					integral to membrane		g.chr20:1459194C>A	AL109658	CCDS42849.1, CCDS46570.1	20p13	2013-01-11	2006-02-03	2006-02-03	ENSG00000196209	ENSG00000196209		"Signal-regulatory proteins", "Immunoglobulin superfamily / V-set domain containing"	16247	protein-coding gene	gene with protein product			"protein tyrosine phosphatase, non-receptor type 1-like", "protein tyrosine phosphatase, non-receptor type substrate 1-like 3"	PTPN1L, PTPNS1L3		16339511	Standard	NM_001122962		Approved	dJ776F14.2	uc002wfg.2	Q5JXA9	OTTHUMG00000031670	ENST00000359801.3:c.510G>T	20.37:g.1459194C>A						SIRPB2_ENST00000537284.1_Silent_p.G32G|SIRPB2_ENST00000444444.1_Silent_p.G72G|SIRPB2_ENST00000381630.1_Silent_p.G72G	p.G170G	NM_001122962.1	NP_001116434.1	Q5JXA9	SIRB2_HUMAN			3	546	-			170			Ig-like V-type 2.		B1AKP6|Q5D051|Q5JV25|Q5MKL4|Q8WWA5|Q9NQK8	Silent	SNP	ENST00000359801.3	37	c.510G>T	CCDS42849.1																																																																																				0.587	SIRPB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077544.1	NM_178459		5	45	1	0	0.014758	1	0.0158378	5	45					A	1459194	C	A	1459194	2	1	433	1	0	0	0	0	0	0	0	1	14334	842	30	5		5	SIRPB2	20	1459194	Silent	SNP	C	TCGA-XK-AAIR-01A-11D-A41K-08		1459194	61566326	33	20862											
PDYN	5173	broad.mit.edu	37	chr20	1961195	1961195	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agctcctcttggggtatttgCgcaaaaagcccccatagcgt	9	10	10	12	2	1	0	0	0	1	0	2	0	2	0	3	2	4	3	3	2	4	4	rs377075531		TCGA-XK-AAIR-01A-11D-A41K-08	TCGA-XK-AAIR-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab4e6321-19ec-44d9-aa53-2391911d92d0	bba1d69c-c2b1-4f84-82c8-b54699187c99	g.chr20:1961195C>T	ENST00000217305.2	-	4	764	c.539G>A	c.(538-540)cGc>cAc	p.R180H	PDYN_ENST00000540134.1_Missense_Mutation_p.R180H|PDYN_ENST00000539905.1_Missense_Mutation_p.R180H|RP4-684O24.5_ENST00000446562.1_RNA	NM_001190892.1|NM_001190898.2|NM_024411.4	NP_001177821.1|NP_001177827.1|NP_077722.1	P01213	PDYN_HUMAN	prodynorphin	180					cell death (GO:0008219)|neuropeptide signaling pathway (GO:0007218)|synaptic transmission (GO:0007268)	extracellular region (GO:0005576)|plasma membrane (GO:0005886)				endometrium(3)|kidney(1)|large_intestine(5)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						GGGGTATTTGCGCAAAAAGCC	0.602																																						ENST00000217305.2																			0				endometrium(3)|kidney(1)|large_intestine(5)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						c.(538-540)cGc>cAc		prodynorphin							99	103	102					20																	1961195		2203	4300	6503	SO:0001583	missense	5173				cell death|neuropeptide signaling pathway|synaptic transmission	extracellular region|plasma membrane	opioid peptide activity	g.chr20:1961195C>T		CCDS13023.1	20p13	2014-09-17			ENSG00000101327	ENSG00000101327		"Endogenous ligands"	8820	protein-coding gene	gene with protein product	"preproenkephalin B", "rimorphin", "beta-neoendorphin", "dynorphin", "leu-enkephalin", "leumorphin", "neoendorphin-dynorphin-enkephalin prepropeptide"	131340	"spinocerebellar ataxia 23"	SCA23		21035104	Standard	NM_001190892		Approved	PENKB, ADCA	uc021vzs.1	P01213	OTTHUMG00000031683	ENST00000217305.2:c.539G>A	20.37:g.1961195C>T	ENSP00000217305:p.Arg180His					PDYN_ENST00000539905.1_Missense_Mutation_p.R180H|PDYN_ENST00000540134.1_Missense_Mutation_p.R180H|RP4-684O24.5_ENST00000446562.1_RNA	p.R180H	NM_001190892.1|NM_001190898.2|NM_024411.4	NP_001177821.1|NP_001177827.1|NP_077722.1	P01213	PDYN_HUMAN			4	764	-			180					A8K0Q3	Missense_Mutation	SNP	ENST00000217305.2	37	c.539G>A	CCDS13023.1	.	.	.	.	.	.	.	.	.	.	C	26.8	4.772531	0.90108	.	.	ENSG00000101327	ENST00000539905;ENST00000540134;ENST00000217305	D;D;D	0.86769	-2.17;-2.17;-2.17	4.7	4.7	0.59300	.	0.000000	0.85682	D	0.000000	D	0.94162	0.8127	M	0.89095	3.005	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.95090	0.8221	10	0.87932	D	0	-18.2484	15.1657	0.72821	0.0:1.0:0.0:0.0	.	180	P01213	PDYN_HUMAN	H	180	ENSP00000440185:R180H;ENSP00000442259:R180H;ENSP00000217305:R180H	ENSP00000217305:R180H	R	-	2	0	PDYN	1909195	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	4.652000	0.61454	2.445000	0.82738	0.313000	0.20887	CGC		0.602	PDYN-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077569.2			16	75	0	0	0	1	0	16	75					T	1961195	C	T	1961195	3	4	433	1	0	0	0	0	1	0	0	0	11699	768	27	1	229	1	PDYN	20	1961195	Missense_Mutation	SNP	C	TCGA-XK-AAIR-01A-11D-A41K-08	502001	1961195	61064325	34	20863											
PTPN1	5770	broad.mit.edu	37	chr20	49196444	49196444	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaggaagccccttaaatgccGcaccctacggcatcgaaagg	13	5	10	13	3	0	0	0	0	0	0	1	2	0	1	4	3	3	2	4	3	6	2			TCGA-XK-AAIR-01A-11D-A41K-08	TCGA-XK-AAIR-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab4e6321-19ec-44d9-aa53-2391911d92d0	bba1d69c-c2b1-4f84-82c8-b54699187c99	g.chr20:49196444G>A	ENST00000371621.3	+	8	1243	c.1069G>A	c.(1069-1071)Gca>Aca	p.A357T	RP4-530I15.9_ENST00000431019.1_RNA|PTPN1_ENST00000541713.1_Missense_Mutation_p.A284T	NM_001278618.1|NM_002827.2	NP_001265547.1|NP_002818.1	P18031	PTN1_HUMAN	protein tyrosine phosphatase, non-receptor type 1	357					actin cytoskeleton reorganization (GO:0031532)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|endoplasmic reticulum unfolded protein response (GO:0030968)|insulin receptor signaling pathway (GO:0008286)|interferon-gamma-mediated signaling pathway (GO:0060333)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030948)|peptidyl-tyrosine dephosphorylation (GO:0035335)|peptidyl-tyrosine dephosphorylation involved in inactivation of protein kinase activity (GO:1990264)|platelet activation (GO:0030168)|platelet-derived growth factor receptor-beta signaling pathway (GO:0035791)|regulation of endocytosis (GO:0030100)|regulation of hepatocyte growth factor receptor signaling pathway (GO:1902202)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of signal transduction (GO:0009966)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|type I interferon signaling pathway (GO:0060337)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|sorting endosome (GO:0097443)	enzyme binding (GO:0019899)|ephrin receptor binding (GO:0046875)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|receptor tyrosine kinase binding (GO:0030971)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|skin(2)	16		Lung NSC(126;0.163)			Tiludronate(DB01133)	CTTAAATGCCGCACCCTACGG	0.498											OREG0026029	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000371621.3																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|skin(2)	16						c.(1069-1071)Gca>Aca		protein tyrosine phosphatase, non-receptor type 1	Clodronate(DB00720)|Tiludronate(DB01133)						41	47	45					20																	49196444		2203	4300	6503	SO:0001583	missense	5770				blood coagulation|interferon-gamma-mediated signaling pathway|negative regulation of insulin receptor signaling pathway|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway	cytosol|endoplasmic reticulum membrane	protein tyrosine phosphatase activity|zinc ion binding	g.chr20:49196444G>A		CCDS13430.1, CCDS63309.1	20q13.1-q13.2	2011-06-09			ENSG00000196396	ENSG00000196396		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"	9642	protein-coding gene	gene with protein product		176885		PTP1B		2164224	Standard	NM_002827		Approved		uc002xvl.3	P18031	OTTHUMG00000032729	ENST00000371621.3:c.1069G>A	20.37:g.49196444G>A	ENSP00000360683:p.Ala357Thr		OREG0026029	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	960	PTPN1_ENST00000541713.1_Missense_Mutation_p.A284T	p.A357T	NM_001278618.1|NM_002827.2	NP_001265547.1|NP_002818.1	P18031	PTN1_HUMAN			8	1243	+		Lung NSC(126;0.163)	357					Q5TGD8|Q9BQV9|Q9NQQ4	Missense_Mutation	SNP	ENST00000371621.3	37	c.1069G>A	CCDS13430.1	.	.	.	.	.	.	.	.	.	.	G	0.047	-1.261501	0.01445	.	.	ENSG00000196396	ENST00000371621;ENST00000541713	T;T	0.04862	4.13;3.54	0.418	-0.739	0.11120	.	1.268040	0.05446	N	0.548564	T	0.03477	0.0100	N	0.14661	0.345	0.09310	N	1	B	0.13145	0.007	B	0.04013	0.001	T	0.45366	-0.9266	9	0.13470	T	0.59	.	.	.	.	.	357	P18031	PTN1_HUMAN	T	357;284	ENSP00000360683:A357T;ENSP00000437732:A284T	ENSP00000360683:A357T	A	+	1	0	PTPN1	48629851	0.001000	0.12720	0.001000	0.08648	0.041000	0.13682	-1.432000	0.02430	-0.464000	0.06963	-0.459000	0.05422	GCA		0.498	PTPN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079694.2			4	46	0	0	0	1	0	4	46					A	49196444	G	A	49196444	3	1	433	1	0	0	0	0	1	0	0	0	12779	1087	38	1	1099	1	PTPN1	20	49196444	Missense_Mutation	SNP	G	TCGA-XK-AAIR-01A-11D-A41K-08	47235249	49196444	13829076	35	20864											
KCNQ2	3785	broad.mit.edu	37	chr20	62073806	62073806	+	Frame_Shift_Del	DEL	C	C	-																															ggtgtcaaagtggtcgttctCccccttctctgccaagtaca																										TCGA-XK-AAIR-01A-11D-A41K-08	TCGA-XK-AAIR-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab4e6321-19ec-44d9-aa53-2391911d92d0	bba1d69c-c2b1-4f84-82c8-b54699187c99	g.chr20:62073806delC	ENST00000359125.2	-	5	943	c.769delG	c.(769-771)gagfs	p.E257fs	KCNQ2_ENST00000357249.2_Frame_Shift_Del_p.E257fs|KCNQ2_ENST00000360480.3_Frame_Shift_Del_p.E257fs|KCNQ2_ENST00000344425.5_Frame_Shift_Del_p.E257fs|KCNQ2_ENST00000359689.1_Frame_Shift_Del_p.E257fs|KCNQ2_ENST00000370224.1_Frame_Shift_Del_p.E257fs|KCNQ2_ENST00000344462.4_Frame_Shift_Del_p.E257fs|KCNQ2_ENST00000354587.3_Frame_Shift_Del_p.E257fs	NM_172107.2	NP_742105.1	O43526	KCNQ2_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 2	257					axon guidance (GO:0007411)|nervous system development (GO:0007399)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)|transmission of nerve impulse (GO:0019226)	axon initial segment (GO:0043194)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	ankyrin binding (GO:0030506)|delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)			biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|liver(1)|lung(30)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65	all_cancers(38;1.24e-11)		BRCA - Breast invasive adenocarcinoma(10;1.04e-05)		Amitriptyline(DB00321)|Diclofenac(DB00586)|Ezogabine(DB04953)|Meclofenamic acid(DB00939)	TGGTCGTTCTCCCCCTTCTCT	0.582																																						ENST00000354587.3																			0				biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|liver(1)|lung(30)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65						c.(769-771)agfs		potassium voltage-gated channel, KQT-like subfamily, member 2	Amitriptyline(DB00321)						356	286	310					20																	62073806		2203	4300	6503	SO:0001589	frameshift_variant	3785				axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr20:62073806delC	AF033348	CCDS13518.1, CCDS13519.1, CCDS13520.1, CCDS13521.1, CCDS46629.1	20q13.33	2012-07-05			ENSG00000075043	ENSG00000075043		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6296	protein-coding gene	gene with protein product		602235		EBN, EBN1		9425895, 16382104	Standard	NM_172107		Approved	Kv7.2, ENB1, BFNC, KCNA11, HNSPC	uc002yex.3	O43526	OTTHUMG00000033049	ENST00000359125.2:c.769delG	20.37:g.62073806delC	ENSP00000352035:p.Glu257fs					KCNQ2_ENST00000370226.1_Frame_Shift_Del_p.E257fs|KCNQ2_ENST00000430658.1_Frame_Shift_Del_p.E257fs|KCNQ2_ENST00000370222.3_Frame_Shift_Del_p.E257fs|KCNQ2_ENST00000357249.2_Frame_Shift_Del_p.E257fs|KCNQ2_ENST00000370224.1_Frame_Shift_Del_p.E257fs|KCNQ2_ENST00000359125.2_Frame_Shift_Del_p.E257fs|KCNQ2_ENST00000344425.5_Frame_Shift_Del_p.E257fs|KCNQ2_ENST00000344462.3_Frame_Shift_Del_p.E257fs|KCNQ2_ENST00000370221.1_Frame_Shift_Del_p.E257fs|KCNQ2_ENST00000360480.3_Frame_Shift_Del_p.E257fs|KCNQ2_ENST00000359689.1_Frame_Shift_Del_p.E257fs	p.E257fs			O43526	KCNQ2_HUMAN	BRCA - Breast invasive adenocarcinoma(10;1.04e-05)		5	945	-	all_cancers(38;1.24e-11)		257					O43796|O75580|O95845|Q4VXP4|Q4VXR6|Q5VYT8|Q96J59|Q99454	Frame_Shift_Del	DEL	ENST00000359125.2	37	c.769delG	CCDS13520.1																																																																																				0.582	KCNQ2-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000080353.1	NM_172109		34	182						34	182	---	---	---	---	-	62073806	C	-	62073806	7	5	433	1	0	1	0	1	0	0	0	0	8083	864	30	0	1965	0	KCNQ2	20	62073806	Frame_Shift_Del	DEL	C	TCGA-XK-AAIR-01A-11D-A41K-08	12877362	62073806	951714	36	20865											
S100A7A	338324	broad.mit.edu	37	chr1	153391744	153391744	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tagccgcagactaccacaagCagagccatggagcggcgccc	11	3	12	15	3	0	2	0	0	0	2	0	3	0	3	4	2	5	2	4	2	3	2			TCGA-XK-AAIV-01A-11D-A41K-08	TCGA-XK-AAIV-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeaabd2b-588d-4ab0-a18d-66fe3cf89520	406a543f-c14a-4f78-bf50-77ea7e9a8ede	g.chr1:153391744C>A	ENST00000368729.4	+	3	322	c.265C>A	c.(265-267)Cag>Aag	p.Q89K	S100A7A_ENST00000329256.2_Missense_Mutation_p.Q89K|S100A7A_ENST00000368728.2_Missense_Mutation_p.Q89K	NM_176823.3	NP_789793.1	Q86SG5	S1A7A_HUMAN	S100 calcium binding protein A7A	89						cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|protein self-association (GO:0043621)			cervix(1)|endometrium(3)|kidney(1)|lung(3)|prostate(1)|skin(2)|stomach(1)	12	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.171)			CTACCACAAGCAGAGCCATGG	0.537																																						ENST00000368729.4																			0				cervix(1)|endometrium(3)|kidney(1)|lung(3)|prostate(1)|skin(2)|stomach(1)	12						c.(265-267)Cag>Aag		S100 calcium binding protein A7A							73	69	70					1																	153391744		2203	4300	6503	SO:0001583	missense	338324					cytoplasm	calcium ion binding	g.chr1:153391744C>A	AY189118	CCDS30872.1	1q22	2013-01-10	2006-09-11	2006-09-11	ENSG00000184330	ENSG00000184330		"S100 calcium binding proteins", "EF-hand domain containing"	21657	protein-coding gene	gene with protein product			"S100 calcium binding protein A15", "S100 calcium binding protein A7-like 1"	S100A15, S100A7L1		11230159	Standard	NM_176823		Approved	S100A7f	uc001fbt.1	Q86SG5	OTTHUMG00000013122	ENST00000368729.4:c.265C>A	1.37:g.153391744C>A	ENSP00000357718:p.Gln89Lys					S100A7A_ENST00000329256.2_Missense_Mutation_p.Q89K|S100A7A_ENST00000368728.2_Missense_Mutation_p.Q89K	p.Q89K	NM_176823.3	NP_789793.1	Q86SG5	S1A7A_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		3	322	+	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		89					D3DV38|Q5SY69	Missense_Mutation	SNP	ENST00000368729.4	37	c.265C>A	CCDS30872.1	.	.	.	.	.	.	.	.	.	.	.	3.626	-0.076563	0.07184	.	.	ENSG00000184330	ENST00000368729;ENST00000368728;ENST00000329256	T;T;T	0.05996	3.36;3.36;3.36	1.72	0.771	0.18504	EF-hand-like domain (1);	.	.	.	.	T	0.01695	0.0054	L	0.58101	1.795	0.09310	N	1	P	0.40515	0.719	B	0.33454	0.164	T	0.45396	-0.9264	9	0.27785	T	0.31	.	3.9591	0.09403	0.0:0.7684:0.0:0.2316	.	89	Q86SG5	S1A7A_HUMAN	K	89	ENSP00000357718:Q89K;ENSP00000357717:Q89K;ENSP00000329008:Q89K	ENSP00000329008:Q89K	Q	+	1	0	S100A7A	151658368	0.017000	0.18338	0.001000	0.08648	0.005000	0.04900	1.845000	0.39279	0.264000	0.21851	0.591000	0.81541	CAG		0.537	S100A7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036786.2	NM_176823		12	68	1	0	9.05144e-12	1	1.01655e-11	12	68					A	153391744	C	A	153391744	3	1	434	1	0	0	0	0	1	0	0	0	13784	711	25	5	271	5	S100A7A	1	153391744	Missense_Mutation	SNP	C	TCGA-XK-AAIV-01A-11D-A41K-08		153391744	95858877	1	20866											
ASH1L	55870	broad.mit.edu	37	chr1	155491263	155491263	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggactctttcttgaaaaaccTtcggaatcagaacccaatcc	13	10	6	12	1	3	2	1	1	2	1	5	4	4	4	3	2	2	0	3	2	5	3			TCGA-XK-AAIV-01A-11D-A41K-08	TCGA-XK-AAIV-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeaabd2b-588d-4ab0-a18d-66fe3cf89520	406a543f-c14a-4f78-bf50-77ea7e9a8ede	g.chr1:155491263T>C	ENST00000368346.3	-	2	687	c.48A>G	c.(46-48)gaA>gaG	p.E16E	ASH1L_ENST00000548830.1_Silent_p.E16E|ASH1L_ENST00000392403.3_Silent_p.E16E			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	16					cell-cell signaling (GO:0007267)|DNA packaging (GO:0006323)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|tight junction (GO:0005923)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			TTGAAAAACCTTCGGAATCAG	0.403																																						ENST00000368346.3																			0				autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124						c.(46-48)gaA>gaG		ash1 (absent, small, or homeotic)-like (Drosophila)							171	167	168					1																	155491263		2203	4300	6503	SO:0001819	synonymous_variant	55870				cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|Golgi apparatus|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding	g.chr1:155491263T>C	AB037841	CCDS1113.2	1q22	2013-01-28			ENSG00000116539	ENSG00000116539		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	19088	protein-coding gene	gene with protein product		607999				10860993, 16545939	Standard	NM_018489		Approved	huASH1, ASH1, ASH1L1, KMT2H	uc001fkt.3	Q9NR48	OTTHUMG00000014011	ENST00000368346.3:c.48A>G	1.37:g.155491263T>C						ASH1L_ENST00000392403.3_Silent_p.E16E|ASH1L_ENST00000548830.1_Silent_p.E16E	p.E16E			Q9NR48	ASH1L_HUMAN	Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)		2	687	-	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		16					Q59GP1|Q5T714|Q5T715|Q9P2C7	Silent	SNP	ENST00000368346.3	37	c.48A>G																																																																																					0.403	ASH1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000039400.1	NM_018489		4	153	0	0	0	1	0	4	153					C	155491263	T	C	155491263	2	2	434	1	0	0	0	0	0	0	0	1	1041	1606	56	4		4	ASH1L	1	155491263	Silent	SNP	T	TCGA-XK-AAIV-01A-11D-A41K-08	2099519	155491263	93759358	2	20867											
PMF1	11243	broad.mit.edu	37	chr1	156202161	156202161	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cttctaccagttgcagcctgCgatgacacagcaaatctatg	11	10	8	12	1	2	1	0	1	2	0	2	2	2	1	2	0	5	3	2	0	3	4			TCGA-XK-AAIV-01A-11D-A41K-08	TCGA-XK-AAIV-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeaabd2b-588d-4ab0-a18d-66fe3cf89520	406a543f-c14a-4f78-bf50-77ea7e9a8ede	g.chr1:156202161C>T	ENST00000368277.3	+	2	221	c.212C>T	c.(211-213)gCg>gTg	p.A71V	PMF1_ENST00000565805.1_Missense_Mutation_p.A71V|PMF1-BGLAP_ENST00000490491.1_Missense_Mutation_p.A71V|PMF1_ENST00000567140.1_Missense_Mutation_p.A71V|PMF1_ENST00000368279.3_Missense_Mutation_p.A71V|PMF1-BGLAP_ENST00000320139.5_Missense_Mutation_p.A71V|PMF1-BGLAP_ENST00000368276.4_Missense_Mutation_p.A71V|PMF1_ENST00000368273.4_Intron	NM_007221.3	NP_009152.2			polyamine-modulated factor 1											kidney(1)|large_intestine(2)|lung(3)	6	Hepatocellular(266;0.158)					TTGCAGCCTGCGATGACACAG	0.537																																					Pancreas(32;764 914 7316 34504 37150)|Ovarian(64;846 1195 21996 34382 40415)	ENST00000368277.3																			0				kidney(1)|large_intestine(2)|lung(3)	6						c.(211-213)gCg>gTg		polyamine-modulated factor 1							201	199	199					1																	156202161		2203	4300	6503	SO:0001583	missense	11243							g.chr1:156202161C>T	AF141310	CCDS30886.1, CCDS55648.1, CCDS55649.1	1q22	2013-07-03			ENSG00000160783	ENSG00000160783			9112	protein-coding gene	gene with protein product		609176				10419538	Standard	NM_007221		Approved			Q6P1K2	OTTHUMG00000177123	ENST00000368277.3:c.212C>T	1.37:g.156202161C>T	ENSP00000357260:p.Ala71Val					PMF1_ENST00000466489.1_3'UTR|PMF1-BGLAP_ENST00000490491.1_Missense_Mutation_p.A71V|PMF1_ENST00000368279.3_Missense_Mutation_p.A71V|PMF1_ENST00000567140.1_Missense_Mutation_p.A71V|PMF1_ENST00000565805.1_Missense_Mutation_p.A71V|PMF1-BGLAP_ENST00000368276.4_Missense_Mutation_p.A71V|PMF1-BGLAP_ENST00000320139.5_Missense_Mutation_p.A71V|PMF1_ENST00000368273.4_Intron	p.A71V	NM_007221.3	NP_009152.2					2	221	+	Hepatocellular(266;0.158)								Missense_Mutation	SNP	ENST00000368277.3	37	c.212C>T	CCDS30886.1	.	.	.	.	.	.	.	.	.	.	A	22.4	4.290238	0.80914	.	.	ENSG00000160783	ENST00000368279;ENST00000368277;ENST00000368276;ENST00000320139	T;T;T;T	0.32988	1.43;1.43;1.43;1.43	5.68	5.68	0.88126	.	0.212719	0.40728	N	0.001029	T	0.07369	0.0186	N	0.14661	0.345	0.23959	N	0.99634	B;B;B	0.18013	0.007;0.014;0.025	B;B;B	0.08055	0.001;0.003;0.001	T	0.17501	-1.0367	10	0.52906	T	0.07	-3.2266	10.0062	0.41959	0.8298:0.1702:0.0:0.0	.	71;71;71	Q6P1K2-3;Q5TCK1;Q6P1K2	.;.;PMF1_HUMAN	V	71	ENSP00000357262:A71V;ENSP00000357260:A71V;ENSP00000357259:A71V;ENSP00000324909:A71V	ENSP00000324909:A71V	A	+	2	0	PMF1	154468785	0.996000	0.38824	0.901000	0.35422	0.277000	0.26821	3.174000	0.50847	0.993000	0.38866	-0.256000	0.11100	GCG		0.537	PMF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040860.1	NM_007221		4	148	0	0	0	1	0	4	148					T	156202161	C	T	156202161	3	4	434	1	0	0	0	0	1	0	0	0	12133	768	27	1	218	1	PMF1	1	156202161	Missense_Mutation	SNP	C	TCGA-XK-AAIV-01A-11D-A41K-08	710898	156202161	93048460	3	20868											
OR10J1	26476	broad.mit.edu	37	chr1	159409753	159409753	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tggatcttcatcttcacacaCccatgtacttcttcctgagc	8	14	5	14	0	5	1	2	1	3	0	6	2	6	2	2	1	2	1	2	1	1	5			TCGA-XK-AAIV-01A-11D-A41K-08	TCGA-XK-AAIV-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeaabd2b-588d-4ab0-a18d-66fe3cf89520	406a543f-c14a-4f78-bf50-77ea7e9a8ede	g.chr1:159409753C>A	ENST00000423932.3	+	1	242	c.205C>A	c.(205-207)Ccc>Acc	p.P69T	RP11-550P17.5_ENST00000431862.1_RNA	NM_012351.2	NP_036483.2	P30954	O10J1_HUMAN	olfactory receptor, family 10, subfamily J, member 1	69					G-protein coupled receptor signaling pathway (GO:0007186)|sensory perception of chemical stimulus (GO:0007606)|single fertilization (GO:0007338)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|stomach(1)	25	all_hematologic(112;0.0429)					TCTTCACACACCCATGTACTT	0.458																																						ENST00000423932.3																			0				endometrium(2)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|stomach(1)	25						c.(205-207)Ccc>Acc		olfactory receptor, family 10, subfamily J, member 1							171	155	160					1																	159409753		2203	4300	6503	SO:0001583	missense	26476				sensory perception of smell|single fertilization	integral to plasma membrane	olfactory receptor activity	g.chr1:159409753C>A	X64995	CCDS1185.1	1q23.2	2012-08-09			ENSG00000196184	ENSG00000196184		"GPCR / Class A : Olfactory receptors"	8175	protein-coding gene	gene with protein product						1370859	Standard	NM_012351		Approved	HGMP07J, HSHGMP07J	uc010piv.2	P30954	OTTHUMG00000022737	ENST00000423932.3:c.205C>A	1.37:g.159409753C>A	ENSP00000399078:p.Pro69Thr					RP11-550P17.5_ENST00000431862.1_RNA	p.P69T	NM_012351.2	NP_036483.2	P30954	O10J1_HUMAN			1	242	+	all_hematologic(112;0.0429)		69					Q2M1M8|Q5VSV1|Q6IET5|Q96R56	Missense_Mutation	SNP	ENST00000423932.3	37	c.205C>A	CCDS1185.1	.	.	.	.	.	.	.	.	.	.	C	12.76	2.035647	0.35893	.	.	ENSG00000196184	ENST00000423932	T	0.02032	4.49	4.48	3.57	0.40892	GPCR, rhodopsin-like superfamily (1);	0.000000	0.41097	D	0.000945	T	0.12646	0.0307	H	0.97214	3.96	0.43476	D	0.995691	D	0.89917	1.0	D	0.83275	0.996	T	0.02797	-1.1109	10	0.87932	D	0	.	10.4932	0.44762	0.0:0.9044:0.0:0.0956	.	69	P30954	O10J1_HUMAN	T	69	ENSP00000399078:P69T	ENSP00000399078:P69T	P	+	1	0	OR10J1	157676377	1.000000	0.71417	0.840000	0.33206	0.069000	0.16628	5.712000	0.68407	1.216000	0.43427	-0.136000	0.14681	CCC		0.458	OR10J1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059020.1	NM_012351		24	85	1	0	2.32416e-17	1	2.65099e-17	24	85					A	159409753	C	A	159409753	3	1	434	1	0	0	0	0	1	0	0	0	10910	507	18	5	207	5	OR10J1	1	159409753	Missense_Mutation	SNP	C	TCGA-XK-AAIV-01A-11D-A41K-08	3207592	159409753	89840868	4	20869											
CENPL	91687	broad.mit.edu	37	chr1	173776622	173776622	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ataaagtccactgtttatgcAgaaggaatgcaaccttttga	14	12	8	7	0	0	2	0	1	0	1	1	3	1	3	2	1	3	3	2	1	6	5			TCGA-XK-AAIV-01A-11D-A41K-08	TCGA-XK-AAIV-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeaabd2b-588d-4ab0-a18d-66fe3cf89520	406a543f-c14a-4f78-bf50-77ea7e9a8ede	g.chr1:173776622A>G	ENST00000345664.6	-	3	416	c.203T>C	c.(202-204)cTg>cCg	p.L68P	Y_RNA_ENST00000516548.1_RNA|CENPL_ENST00000356198.2_Missense_Mutation_p.L68P|CENPL_ENST00000367710.3_Missense_Mutation_p.L68P	NM_001171182.1	NP_001164653.1	Q8N0S6	CENPL_HUMAN	centromere protein L	68					mitotic cell cycle (GO:0000278)	chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|nucleus (GO:0005634)				breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(3)	11						CTGTTTATGCAGAAGGAATGC	0.294																																						ENST00000356198.2																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(3)	11						c.(202-204)cTg>cCg		centromere protein L							35	39	38					1																	173776622		2200	4294	6494	SO:0001583	missense	91687				mitotic prometaphase	chromosome, centromeric region|cytosol|nucleus		g.chr1:173776622A>G	BC033154, BC019022, AK055606	CCDS30938.1, CCDS44277.1	1q25.1	2013-11-05	2006-06-15	2006-06-15	ENSG00000120334	ENSG00000120334			17879	protein-coding gene	gene with protein product		611503	"chromosome 1 open reading frame 155"	C1orf155		16622420, 16622419	Standard	NM_033319		Approved	dJ383J4.3, FLJ31044	uc001gje.4	Q8N0S6	OTTHUMG00000034802	ENST00000345664.6:c.203T>C	1.37:g.173776622A>G	ENSP00000323543:p.Leu68Pro					CENPL_ENST00000367710.3_Missense_Mutation_p.L68P|CENPL_ENST00000345664.6_Missense_Mutation_p.L68P	p.L68P	NM_001127181.2	NP_001120653.1	Q8N0S6	CENPL_HUMAN			4	488	-			68					Q5TEL5|Q96ND4	Missense_Mutation	SNP	ENST00000345664.6	37	c.203T>C	CCDS30938.1	.	.	.	.	.	.	.	.	.	.	A	19.00	3.742034	0.69418	.	.	ENSG00000120334	ENST00000356198;ENST00000345664;ENST00000367710	T;T;T	0.55930	1.03;0.49;0.49	5.63	4.49	0.54785	.	0.150236	0.43919	D	0.000513	T	0.59891	0.2227	M	0.64997	1.995	0.80722	D	1	D;D	0.89917	1.0;0.979	D;P	0.91635	0.999;0.733	T	0.65994	-0.6033	10	0.87932	D	0	-2.6783	12.2763	0.54737	0.8579:0.1421:0.0:0.0	.	68;68	Q8N0S6-2;Q8N0S6	.;CENPL_HUMAN	P	68	ENSP00000348527:L68P;ENSP00000323543:L68P;ENSP00000356683:L68P	ENSP00000323543:L68P	L	-	2	0	CENPL	172043245	1.000000	0.71417	0.997000	0.53966	0.975000	0.68041	7.657000	0.83745	1.059000	0.40554	0.533000	0.62120	CTG		0.294	CENPL-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084213.1	NM_033319		15	37	0	0	0	1	0	15	37					G	173776622	A	G	173776622	3	3	434	1	0	0	0	0	1	0	0	0	3236	188	7	4	985	4	CENPL	1	173776622	Missense_Mutation	SNP	A	TCGA-XK-AAIV-01A-11D-A41K-08	14366869	173776622	75473999	5	20870											
TPO	7173	broad.mit.edu	37	chr2	1457542	1457542	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctatgaggacggcttcagtCagccccgaggctggaacccc	8	7	12	14	2	3	1	2	1	1	0	3	4	3	3	4	4	2	2	4	4	2	2			TCGA-XK-AAIV-01A-11D-A41K-08	TCGA-XK-AAIV-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeaabd2b-588d-4ab0-a18d-66fe3cf89520	406a543f-c14a-4f78-bf50-77ea7e9a8ede	g.chr2:1457542C>A	ENST00000345913.4	+	6	650	c.559C>A	c.(559-561)Cag>Aag	p.Q187K	TPO_ENST00000346956.3_Missense_Mutation_p.Q187K|TPO_ENST00000337415.3_Missense_Mutation_p.Q187K|TPO_ENST00000329066.4_Missense_Mutation_p.Q187K|TPO_ENST00000382201.3_Missense_Mutation_p.Q187K|TPO_ENST00000382198.1_Missense_Mutation_p.Q187K|TPO_ENST00000497517.2_Intron|TPO_ENST00000349624.3_Missense_Mutation_p.Q187K	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN	thyroid peroxidase	187					cellular nitrogen compound metabolic process (GO:0034641)|embryonic hemopoiesis (GO:0035162)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide catabolic process (GO:0042744)|small molecule metabolic process (GO:0044281)|thyroid hormone generation (GO:0006590)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|heme binding (GO:0020037)|iodide peroxidase activity (GO:0004447)|peroxidase activity (GO:0004601)			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Dextrothyroxine(DB00509)|Methimazole(DB00763)|Propylthiouracil(DB00550)	CGGCTTCAGTCAGCCCCGAGG	0.602																																						ENST00000345913.4																			0				breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95						c.(559-561)Cag>Aag		thyroid peroxidase	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)						53	59	57					2																	1457542		2203	4300	6503	SO:0001583	missense	7173				cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity	g.chr2:1457542C>A		CCDS1643.1, CCDS1644.1, CCDS1646.1	2p25	2008-02-05			ENSG00000115705	ENSG00000115705	1.11.1.7		12015	protein-coding gene	gene with protein product		606765					Standard	NM_175722		Approved	TPX	uc002qww.3	P07202	OTTHUMG00000090271	ENST00000345913.4:c.559C>A	2.37:g.1457542C>A	ENSP00000318820:p.Gln187Lys					TPO_ENST00000497517.2_Intron|TPO_ENST00000382198.1_Missense_Mutation_p.Q187K|TPO_ENST00000382201.3_Missense_Mutation_p.Q187K|TPO_ENST00000349624.3_Missense_Mutation_p.Q187K|TPO_ENST00000346956.3_Missense_Mutation_p.Q187K|TPO_ENST00000337415.3_Missense_Mutation_p.Q187K|TPO_ENST00000329066.4_Missense_Mutation_p.Q187K	p.Q187K	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	6	650	+	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)	187					P09934|P09935|Q8IUL0|Q8NF94|Q8NF95|Q8NF96|Q8NF97|Q8TCI9	Missense_Mutation	SNP	ENST00000345913.4	37	c.559C>A	CCDS1643.1	.	.	.	.	.	.	.	.	.	.	C	9.231	1.035902	0.19590	.	.	ENSG00000115705	ENST00000337415;ENST00000345913;ENST00000346956;ENST00000349624;ENST00000329066;ENST00000382201;ENST00000382198;ENST00000422464	T;T;T;T;T;T;T;T	0.59364	0.27;0.27;0.27;0.27;0.27;0.27;0.27;0.27	5.27	4.39	0.52855	.	0.168812	0.52532	D	0.000066	T	0.48732	0.1516	L	0.33668	1.02	0.80722	D	1	B;B;B;B	0.33171	0.317;0.4;0.317;0.367	B;B;B;B	0.37550	0.228;0.121;0.164;0.253	T	0.39078	-0.9631	10	0.25106	T	0.35	-22.0183	13.9026	0.63815	0.0:0.6379:0.3621:0.0	.	187;187;187;187	P07202-4;P07202-5;P07202-2;P07202	.;.;.;PERT_HUMAN	K	187;187;187;187;187;187;187;116	ENSP00000337263:Q187K;ENSP00000318820:Q187K;ENSP00000263886:Q187K;ENSP00000332044:Q187K;ENSP00000329869:Q187K;ENSP00000371636:Q187K;ENSP00000371633:Q187K;ENSP00000405788:Q116K	ENSP00000329869:Q187K	Q	+	1	0	TPO	1436549	0.051000	0.20477	0.903000	0.35520	0.649000	0.38597	0.710000	0.25748	1.194000	0.43101	0.557000	0.71058	CAG		0.602	TPO-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206594.2	NM_000547		11	41	1	0	4.68919e-08	1	5.10912e-08	11	41					A	1457542	C	A	1457542	3	1	434	1	0	0	0	0	1	0	0	0	16407	827	29	5	577	5	TPO	2	1457542	Missense_Mutation	SNP	C	TCGA-XK-AAIV-01A-11D-A41K-08		1457542	241741831	6	20871											
WDR33	55339	broad.mit.edu	37	chr2	128528552	128528552	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	aggagaaccaatttctgtagCcatggtgatgttttccttct	9	15	9	8	0	2	2	0	1	2	1	3	3	3	2	3	2	2	2	3	2	3	5			TCGA-XK-AAIV-01A-11D-A41K-08	TCGA-XK-AAIV-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeaabd2b-588d-4ab0-a18d-66fe3cf89520	406a543f-c14a-4f78-bf50-77ea7e9a8ede	g.chr2:128528552C>G	ENST00000322313.4	-	2	162	c.4G>C	c.(4-6)Gct>Cct	p.A2P	WDR33_ENST00000393006.1_Missense_Mutation_p.A2P|WDR33_ENST00000409658.3_Missense_Mutation_p.A2P	NM_018383.4	NP_060853.3	Q9C0J8	WDR33_HUMAN	WD repeat domain 33	2					mRNA processing (GO:0006397)|postreplication repair (GO:0006301)|spermatogenesis (GO:0007283)	collagen trimer (GO:0005581)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0695)		ATTTCTGTAGCCATGGTGATG	0.408																																						ENST00000322313.4																			0				NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39						c.(4-6)Gct>Cct		WD repeat domain 33							73	74	73					2																	128528552		2203	4300	6503	SO:0001583	missense	55339				postreplication repair|spermatogenesis	collagen|nucleus	protein binding	g.chr2:128528552C>G		CCDS2150.1, CCDS42746.1, CCDS46407.1	2q21.1	2013-01-09			ENSG00000136709	ENSG00000136709		"WD repeat domain containing"	25651	protein-coding gene	gene with protein product						11162572	Standard	NM_001006622		Approved	FLJ11294, WDC146, NET14	uc002tpg.2	Q9C0J8	OTTHUMG00000131534	ENST00000322313.4:c.4G>C	2.37:g.128528552C>G	ENSP00000325377:p.Ala2Pro					WDR33_ENST00000409658.3_Missense_Mutation_p.A2P|WDR33_ENST00000393006.1_Missense_Mutation_p.A2P	p.A2P	NM_018383.4	NP_060853.3	Q9C0J8	WDR33_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0695)	2	162	-	Colorectal(110;0.1)		2					Q05DP8|Q53FG9|Q587J1|Q69YF7|Q6NUQ0|Q9NUL1	Missense_Mutation	SNP	ENST00000322313.4	37	c.4G>C	CCDS2150.1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.439788	0.83885	.	.	ENSG00000136709	ENST00000322313;ENST00000393006;ENST00000409658;ENST00000408998	T;T;T;T	0.56611	0.45;0.45;0.45;0.45	5.54	5.54	0.83059	.	0.101382	0.64402	D	0.000002	T	0.56688	0.2002	N	0.08118	0	0.80722	D	1	D;D;D	0.76494	0.999;0.998;0.998	D;D;D	0.80764	0.991;0.987;0.994	T	0.67413	-0.5677	10	0.87932	D	0	-10.2911	19.4948	0.95067	0.0:1.0:0.0:0.0	.	2;2;2	Q9C0J8-2;Q6NUQ0;Q9C0J8	.;.;WDR33_HUMAN	P	2	ENSP00000325377:A2P;ENSP00000376730:A2P;ENSP00000387186:A2P;ENSP00000386861:A2P	ENSP00000325377:A2P	A	-	1	0	WDR33	128245022	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.694000	0.84235	2.614000	0.88457	0.591000	0.81541	GCT		0.408	WDR33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331141.2	NM_018383		7	23	0	0	0	1	0	7	23					G	128528552	C	G	128528552	3	3	434	1	0	0	0	0	1	0	0	0	17284	739	26	5	4499	5	WDR33	2	128528552	Missense_Mutation	SNP	C	TCGA-XK-AAIV-01A-11D-A41K-08	127071010	128528552	114670821	7	20872											
KIAA1486	57624	broad.mit.edu	37	chr2	226446863	226446863	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accccgaggaagaggagcccGtgtacatcgagatggtgggg	10	5	17	9	3	0	2	0	0	0	2	1	6	0	4	3	5	2	1	3	5	2	1			TCGA-XK-AAIV-01A-11D-A41K-08	TCGA-XK-AAIV-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeaabd2b-588d-4ab0-a18d-66fe3cf89520	406a543f-c14a-4f78-bf50-77ea7e9a8ede	g.chr2:226446863G>A	ENST00000272907.6	+	4	1143	c.730G>A	c.(730-732)Gtg>Atg	p.V244M	NYAP2_ENST00000409269.2_Intron	NM_020864.1	NP_065915.1	Q9P242	NYAP2_HUMAN	neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2	244					neuron projection morphogenesis (GO:0048812)|phosphatidylinositol 3-kinase signaling (GO:0014065)												AGAGGAGCCCGTGTACATCGA	0.592																																						ENST00000272907.6																			0											c.(730-732)Gtg>Atg		neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2							111	118	116					2																	226446863		1946	4128	6074	SO:0001583	missense	57624							g.chr2:226446863G>A	AB040919	CCDS46529.1	2q36.3	2011-11-30	2011-11-30	2011-11-30	ENSG00000144460	ENSG00000144460			29291	protein-coding gene	gene with protein product		615478	"KIAA1486"	KIAA1486		10819331, 21946561	Standard	NM_020864		Approved		uc002voe.2	Q9P242	OTTHUMG00000153450	ENST00000272907.6:c.730G>A	2.37:g.226446863G>A	ENSP00000272907:p.Val244Met					NYAP2_ENST00000409269.2_Intron	p.V244M	NM_020864.1	NP_065915.1	Q9P242	K1486_HUMAN			4	1143	+			244					A2RRN4|Q96NL2	Missense_Mutation	SNP	ENST00000272907.6	37	c.730G>A	CCDS46529.1	.	.	.	.	.	.	.	.	.	.	G	32	5.121280	0.94385	.	.	ENSG00000144460	ENST00000272907	T	0.63580	-0.05	5.9	5.9	0.94986	.	0.000000	0.85682	D	0.000000	D	0.82291	0.5005	M	0.83118	2.625	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.83324	-0.0016	10	0.72032	D	0.01	-34.3849	20.3541	0.98825	0.0:0.0:1.0:0.0	.	244	Q9P242	K1486_HUMAN	M	244	ENSP00000272907:V244M	ENSP00000272907:V244M	V	+	1	0	KIAA1486	226155107	1.000000	0.71417	0.995000	0.50966	0.997000	0.91878	9.472000	0.97709	2.816000	0.96949	0.644000	0.83932	GTG		0.592	NYAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331258.1	NM_020864		18	88	0	0	0	1	0	18	88					A	226446863	G	A	226446863	3	1	434	1	0	0	0	0	1	0	0	0	8237	1145	40	1	740	1	KIAA1486	2	226446863	Missense_Mutation	SNP	G	TCGA-XK-AAIV-01A-11D-A41K-08	97918311	226446863	16752510	8	20873											
PDE12	201626	broad.mit.edu	37	chr3	57545515	57545515	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgtctcttacacatttcttCaagctgaaaagtgcttgtgg	10	15	8	8	0	3	1	1	1	2	0	4	1	3	1	0	1	3	2	0	1	4	4			TCGA-XK-AAIV-01A-11D-A41K-08	TCGA-XK-AAIV-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeaabd2b-588d-4ab0-a18d-66fe3cf89520	406a543f-c14a-4f78-bf50-77ea7e9a8ede	g.chr3:57545515C>A	ENST00000311180.8	+	3	1717	c.1614C>A	c.(1612-1614)ttC>ttA	p.F538L	PDE12_ENST00000487257.1_3'UTR	NM_177966.5	NP_808881.3	Q6L8Q7	PDE12_HUMAN	phosphodiesterase 12	538					mRNA processing (GO:0006397)	mitochondrion (GO:0005739)	metal ion binding (GO:0046872)|poly(A)-specific ribonuclease activity (GO:0004535)			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|liver(4)|lung(3)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	20				KIRC - Kidney renal clear cell carcinoma(284;0.011)|Kidney(284;0.0127)		CACATTTCTTCAAGCTGAAAA	0.398																																					Colon(125;308 1634 19198 50622 50717)	ENST00000311180.8																			0				breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|liver(4)|lung(3)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	20						c.(1612-1614)ttC>ttA		phosphodiesterase 12							236	223	228					3																	57545515		2203	4300	6503	SO:0001583	missense	201626						hydrolase activity	g.chr3:57545515C>A	AK074423	CCDS33772.1	3p14.3	2013-10-11			ENSG00000174840	ENSG00000174840			25386	protein-coding gene	gene with protein product	"2'-phosphodiesterase"					15231837	Standard	NM_177966		Approved	DKFZp667B1218, 2'-PDE	uc003diw.4	Q6L8Q7	OTTHUMG00000158599	ENST00000311180.8:c.1614C>A	3.37:g.57545515C>A	ENSP00000309142:p.Phe538Leu					PDE12_ENST00000487257.1_3'UTR	p.F538L	NM_177966.5	NP_808881.3	Q6L8Q7	PDE12_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.011)|Kidney(284;0.0127)	3	1717	+			538					B4DTU8|Q8IYU3|Q8NDU2|Q8TE78	Missense_Mutation	SNP	ENST00000311180.8	37	c.1614C>A	CCDS33772.1	.	.	.	.	.	.	.	.	.	.	C	7.592	0.671028	0.14776	.	.	ENSG00000174840	ENST00000311180	D	0.95482	-3.72	5.84	3.07	0.35406	Endonuclease/exonuclease/phosphatase (2);	0.000000	0.85682	D	0.000000	D	0.89777	0.6813	L	0.31120	0.905	0.58432	D	0.999999	B	0.06786	0.001	B	0.14578	0.011	T	0.80763	-0.1237	10	0.19147	T	0.46	-14.1195	8.9679	0.35887	0.0:0.7311:0.1346:0.1342	.	538	Q6L8Q7	PDE12_HUMAN	L	538	ENSP00000309142:F538L	ENSP00000309142:F538L	F	+	3	2	PDE12	57520555	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	1.645000	0.37238	0.357000	0.24183	0.563000	0.77884	TTC		0.398	PDE12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351440.2	NM_177966		41	70	1	0	6.61955e-31	1	7.67027e-31	41	70					A	57545515	C	A	57545515	3	1	434	1	0	0	0	0	1	0	0	0	11632	825	29	5	1624	5	PDE12	3	57545515	Missense_Mutation	SNP	C	TCGA-XK-AAIV-01A-11D-A41K-08		57545515	140476915	9	20874											
IGSF10	285313	broad.mit.edu	37	chr3	151171555	151171555	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggactttattatagctcattTttaagacctatgaattaaaa	15	16	5	5	0	1	2	1	1	0	1	1	3	1	3	1	1	1	1	1	1	8	9			TCGA-XK-AAIV-01A-11D-A41K-08	TCGA-XK-AAIV-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeaabd2b-588d-4ab0-a18d-66fe3cf89520	406a543f-c14a-4f78-bf50-77ea7e9a8ede	g.chr3:151171555T>A	ENST00000282466.3	-	3	331	c.332A>T	c.(331-333)aAa>aTa	p.K111I		NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	111					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)	extracellular region (GO:0005576)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			ATAGCTCATTTTTAAGACCTA	0.303																																						ENST00000282466.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116						c.(331-333)aAa>aTa		immunoglobulin superfamily, member 10							64	70	68					3																	151171555		2076	4260	6336	SO:0001583	missense	285313				cell differentiation|multicellular organismal development|ossification	extracellular region		g.chr3:151171555T>A	AY273815	CCDS3160.1	3q25.1	2013-01-11			ENSG00000152580	ENSG00000152580		"Immunoglobulin superfamily / I-set domain containing"	26384	protein-coding gene	gene with protein product						12477932	Standard	NM_178822		Approved	FLJ25972, CMF608	uc011bod.2	Q6WRI0	OTTHUMG00000159856	ENST00000282466.3:c.332A>T	3.37:g.151171555T>A	ENSP00000282466:p.Lys111Ile						p.K111I	NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)		3	331	-			111					Q86YJ9|Q8N772|Q8NA84	Missense_Mutation	SNP	ENST00000282466.3	37	c.332A>T	CCDS3160.1	.	.	.	.	.	.	.	.	.	.	T	25.2	4.613634	0.87359	.	.	ENSG00000152580	ENST00000282466	T	0.57273	0.41	5.53	5.53	0.82687	.	0.000000	0.51477	D	0.000096	T	0.55800	0.1943	N	0.11201	0.11	0.52501	D	0.999955	D	0.89917	1.0	D	0.97110	1.0	T	0.65800	-0.6080	10	0.87932	D	0	.	15.6808	0.77367	0.0:0.0:0.0:1.0	.	111	Q6WRI0	IGS10_HUMAN	I	111	ENSP00000282466:K111I	ENSP00000282466:K111I	K	-	2	0	IGSF10	152654245	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.698000	0.84413	2.104000	0.64026	0.528000	0.53228	AAA		0.303	IGSF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357782.1	NM_178822		4	97	0	0	0	1	0	4	97					A	151171555	T	A	151171555	3	1	434	1	0	0	0	0	1	0	0	0	7597	1841	64	5	7603	5	IGSF10	3	151171555	Missense_Mutation	SNP	T	TCGA-XK-AAIV-01A-11D-A41K-08	93626040	151171555	46850875	10	20875											
RFC1	5981	broad.mit.edu	37	chr4	39291478	39291478	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	aaaatactaccttgatcatgGcatcagtttctatagcatct	13	14	5	9	0	4	1	2	1	2	0	4	1	4	1	1	1	3	3	1	1	6	6			TCGA-XK-AAIV-01A-11D-A41K-08	TCGA-XK-AAIV-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeaabd2b-588d-4ab0-a18d-66fe3cf89520	406a543f-c14a-4f78-bf50-77ea7e9a8ede	g.chr4:39291478G>A	ENST00000381897.1	-	24	3486	c.3353C>T	c.(3352-3354)gCc>gTc	p.A1118V	RFC1_ENST00000349703.2_Missense_Mutation_p.A1117V	NM_001204747.1|NM_002913.4	NP_001191676.1|NP_002904.3	P35251	RFC1_HUMAN	replication factor C (activator 1) 1, 145kDa	1118					DNA repair (GO:0006281)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA-dependent DNA replication (GO:0006261)|mitotic cell cycle (GO:0000278)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|positive regulation of catalytic activity (GO:0043085)|positive regulation of transcription, DNA-templated (GO:0045893)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|telomere maintenance via telomerase (GO:0007004)|transcription, DNA-templated (GO:0006351)|transcription-coupled nucleotide-excision repair (GO:0006283)	cell junction (GO:0030054)|DNA replication factor C complex (GO:0005663)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA clamp loader activity (GO:0003689)|double-stranded DNA binding (GO:0003690)|enzyme activator activity (GO:0008047)|sequence-specific DNA binding (GO:0043565)			haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	16						CTTGATCATGGCATCAGTTTC	0.408																																					Colon(109;59 1555 12203 17579 39824)|Esophageal Squamous(18;360 542 16186 28570 51157)	ENST00000381897.1																			0				haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	16						c.(3352-3354)gCc>gTc		replication factor C (activator 1) 1, 145kDa							182	181	181					4																	39291478		2203	4300	6503	SO:0001583	missense	5981				DNA strand elongation involved in DNA replication|nucleotide-excision repair, DNA gap filling|regulation of transcription, DNA-dependent|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|telomere maintenance via telomerase|transcription, DNA-dependent|transcription-coupled nucleotide-excision repair	DNA replication factor C complex|nucleoplasm	ATP binding|DNA clamp loader activity|enzyme activator activity|protein binding	g.chr4:39291478G>A	L23320	CCDS3450.1, CCDS56329.1	4p14-p13	2010-04-21	2002-08-29		ENSG00000035928	ENSG00000035928		"ATPases / AAA-type"	9969	protein-coding gene	gene with protein product		102579	"replication factor C (activator 1) 1 (145kD)"			8114700	Standard	NM_002913		Approved	A1, PO-GA, RFC140, MHCBFB	uc003gty.2	P35251	OTTHUMG00000099363	ENST00000381897.1:c.3353C>T	4.37:g.39291478G>A	ENSP00000371321:p.Ala1118Val					RFC1_ENST00000349703.2_Missense_Mutation_p.A1117V	p.A1118V	NM_001204747.1|NM_002913.4	NP_001191676.1|NP_002904.3	P35251	RFC1_HUMAN			24	3486	-			1118					A8K6E7|Q5XKF5|Q6PKU0|Q86V41|Q86V46	Missense_Mutation	SNP	ENST00000381897.1	37	c.3353C>T	CCDS56329.1	.	.	.	.	.	.	.	.	.	.	G	28.3	4.905131	0.92035	.	.	ENSG00000035928	ENST00000381897;ENST00000349703	T;T	0.13657	2.58;2.57	5.83	4.98	0.66077	.	0.057208	0.64402	D	0.000001	T	0.35740	0.0942	M	0.70275	2.135	0.80722	D	1	D;D	0.65815	0.992;0.995	P;D	0.62955	0.813;0.909	T	0.15838	-1.0423	10	0.56958	D	0.05	-7.9137	17.0448	0.86499	0.0:0.127:0.873:0.0	.	1118;1117	P35251;P35251-2	RFC1_HUMAN;.	V	1118;1117	ENSP00000371321:A1118V;ENSP00000261424:A1117V	ENSP00000261424:A1117V	A	-	2	0	RFC1	38967873	1.000000	0.71417	0.987000	0.45799	0.716000	0.41182	6.350000	0.73017	1.458000	0.47871	0.561000	0.74099	GCC		0.408	RFC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000216808.1	NM_002913		4	96	0	0	0	1	0	4	96					A	39291478	G	A	39291478	3	1	434	1	0	0	0	0	1	0	0	0	13244	1203	42	3	101	3	RFC1	4	39291478	Missense_Mutation	SNP	G	TCGA-XK-AAIV-01A-11D-A41K-08		39291478	151862798	11	20876											
FRAS1	80144	broad.mit.edu	37	chr4	79369379	79369379	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccctcactgatggcctccaCgtggacacagggaggatgaa	10	7	12	12	1	1	2	1	2	0	0	3	5	3	5	3	4	0	0	3	4	1	0			TCGA-XK-AAIV-01A-11D-A41K-08	TCGA-XK-AAIV-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeaabd2b-588d-4ab0-a18d-66fe3cf89520	406a543f-c14a-4f78-bf50-77ea7e9a8ede	g.chr4:79369379C>A	ENST00000264895.6	+	44	6623	c.6183C>A	c.(6181-6183)caC>caA	p.H2061Q		NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser extracellular matrix complex subunit 1	2061					cell communication (GO:0007154)|embryonic limb morphogenesis (GO:0030326)|metanephros morphogenesis (GO:0003338)|morphogenesis of an epithelium (GO:0002009)|palate development (GO:0060021)|protein transport (GO:0015031)|skin development (GO:0043588)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sublamina densa (GO:0061618)	metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						ATGGCCTCCACGTGGACACAG	0.542																																						ENST00000264895.6																			0				breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						c.(6181-6183)caC>caA		Fraser syndrome 1							115	114	115					4																	79369379		2040	4185	6225	SO:0001583	missense	80144				cell communication	integral to membrane|plasma membrane	metal ion binding	g.chr4:79369379C>A	AB040933	CCDS54772.1	4q21.21	2014-06-25	2014-06-25		ENSG00000138759	ENSG00000138759			19185	protein-coding gene	gene with protein product		607830	"Fraser syndrome 1"			12766769, 3118036	Standard	NM_025074		Approved	FLJ22031, FLJ14927, KIAA1500	uc003hlb.2	Q86XX4	OTTHUMG00000160856	ENST00000264895.6:c.6183C>A	4.37:g.79369379C>A	ENSP00000264895:p.His2061Gln						p.H2061Q	NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN			44	6623	+			2060					A2RRR8|Q86UZ4|Q8N3U9|Q8NAU7|Q96JW7|Q9H6N9|Q9P228	Missense_Mutation	SNP	ENST00000264895.6	37	c.6183C>A	CCDS54771.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.13|14.13	2.443443|2.443443	0.43429|0.43429	.|.	.|.	ENSG00000138759|ENSG00000138759	ENST00000264895|ENST00000512123	T|.	0.15139|.	2.45|.	5.68|5.68	0.0521|0.0521	0.14300|0.14300	.|.	0.177707|.	0.51477|.	D|.	0.000088|.	T|T	0.71443|0.71443	0.3340|0.3340	M|M	0.78916|0.78916	2.43|2.43	0.80722|0.80722	D|D	1|1	D|.	0.69078|.	0.997|.	P|.	0.55112|.	0.769|.	T|T	0.71213|0.71213	-0.4659|-0.4659	10|5	0.72032|.	D|.	0.01|.	.|.	12.8182|12.8182	0.57677|0.57677	0.0:0.7899:0.0:0.2101|0.0:0.7899:0.0:0.2101	.|.	2061|.	E9PHH6|.	.|.	Q|S	2061|290	ENSP00000264895:H2061Q|.	ENSP00000264895:H2061Q|.	H|R	+|+	3|1	2|0	FRAS1|FRAS1	79588403|79588403	0.992000|0.992000	0.36948|0.36948	0.275000|0.275000	0.24674|0.24674	0.083000|0.083000	0.17756|0.17756	1.367000|1.367000	0.34204|0.34204	-0.029000|-0.029000	0.13827|0.13827	-0.482000|-0.482000	0.04802|0.04802	CAC|CGT		0.542	FRAS1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				8	21	1	0	2.17888e-05	1	2.33909e-05	8	21					A	79369379	C	A	79369379	3	1	434	1	0	0	0	0	1	0	0	0	6042	535	19	5	6432	5	FRAS1	4	79369379	Missense_Mutation	SNP	C	TCGA-XK-AAIV-01A-11D-A41K-08	40077901	79369379	111784897	12	20877											
BMP2K	55589	broad.mit.edu	37	chr4	79747251	79747251	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aatccgatgtgcattgaagcGaatgtatgtcaataacatgc	14	11	9	7	2	1	1	1	1	0	0	2	3	2	1	1	0	4	2	1	0	6	3	rs200424874		TCGA-XK-AAIV-01A-11D-A41K-08	TCGA-XK-AAIV-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeaabd2b-588d-4ab0-a18d-66fe3cf89520	406a543f-c14a-4f78-bf50-77ea7e9a8ede	g.chr4:79747251G>A	ENST00000335016.5	+	2	405	c.239G>A	c.(238-240)cGa>cAa	p.R80Q	BMP2K_ENST00000502871.1_Missense_Mutation_p.R80Q	NM_198892.1	NP_942595.1	Q9NSY1	BMP2K_HUMAN	BMP2 inducible kinase	80	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				regulation of bone mineralization (GO:0030500)	nucleus (GO:0005634)	ATP binding (GO:0005524)|phosphatase regulator activity (GO:0019208)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	13						GCATTGAAGCGAATGTATGTC	0.363																																						ENST00000335016.5																			0				NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	13						c.(238-240)cGa>cAa		BMP2 inducible kinase							126	124	124					4																	79747251		2203	4300	6503	SO:0001583	missense	55589					nucleus	ATP binding|protein serine/threonine kinase activity	g.chr4:79747251G>A	AB015331	CCDS34019.1, CCDS47083.1	4q21.21	2008-05-15			ENSG00000138756	ENSG00000138756			18041	protein-coding gene	gene with protein product							Standard	NM_017593		Approved	DKFZp434K0614, BIKe	uc003hlk.3	Q9NSY1	OTTHUMG00000160900	ENST00000335016.5:c.239G>A	4.37:g.79747251G>A	ENSP00000334836:p.Arg80Gln					BMP2K_ENST00000502871.1_Missense_Mutation_p.R80Q	p.R80Q	NM_198892.1	NP_942595.1	Q9NSY1	BMP2K_HUMAN			2	405	+			80			Protein kinase.		O94791|Q4W5H2|Q8IYF2|Q8N2G7|Q8NHG9|Q9NTG8	Missense_Mutation	SNP	ENST00000335016.5	37	c.239G>A	CCDS47083.1	.	.	.	.	.	.	.	.	.	.	G	37	5.993336	0.97184	.	.	ENSG00000138756	ENST00000502871;ENST00000335016;ENST00000264889	T;T	0.39997	1.05;1.05	5.81	5.81	0.92471	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	.	.	.	.	T	0.53254	0.1785	N	0.17723	0.515	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.57877	-0.7735	9	0.87932	D	0	.	19.6778	0.95943	0.0:0.0:1.0:0.0	.	80;80	Q9NSY1;Q4W5H2	BMP2K_HUMAN;.	Q	80	ENSP00000421768:R80Q;ENSP00000334836:R80Q	ENSP00000264889:R80Q	R	+	2	0	BMP2K	79966275	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	9.189000	0.94928	2.744000	0.94065	0.655000	0.94253	CGA		0.363	BMP2K-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_017593		7	85	0	0	0	1	0	7	85					A	79747251	G	A	79747251	3	1	434	1	0	0	0	0	1	0	0	0	1460	1058	37	2	245	2	BMP2K	4	79747251	Missense_Mutation	SNP	G	TCGA-XK-AAIV-01A-11D-A41K-08	377872	79747251	111407025	13	20878											
PKD2L2	27039	broad.mit.edu	37	chr5	137235222	137235222	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cagatggagatattctacttCtaataccaactccccttggc	11	12	6	12	0	2	2	0	0	2	2	3	3	3	2	3	2	3	0	3	2	5	7			TCGA-XK-AAIV-01A-11D-A41K-08	TCGA-XK-AAIV-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeaabd2b-588d-4ab0-a18d-66fe3cf89520	406a543f-c14a-4f78-bf50-77ea7e9a8ede	g.chr5:137235222C>T	ENST00000508883.1	+	5	568	c.542C>T	c.(541-543)tCt>tTt	p.S181F	PKD2L2_ENST00000502810.1_Missense_Mutation_p.S181F|PKD2L2_ENST00000508638.1_Missense_Mutation_p.S181F|PKD2L2_ENST00000350250.4_Missense_Mutation_p.S147F|PKD2L2_ENST00000290431.5_Missense_Mutation_p.S181F			Q9NZM6	PK2L2_HUMAN	polycystic kidney disease 2-like 2	181					calcium ion transmembrane transport (GO:0070588)|detection of mechanical stimulus (GO:0050982)	integral component of membrane (GO:0016021)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)			breast(1)|endometrium(7)|kidney(4)|large_intestine(6)|lung(7)|skin(1)|upper_aerodigestive_tract(2)	28			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			TATTCTACTTCTAATACCAAC	0.353																																						ENST00000508638.1																			0				breast(1)|endometrium(7)|kidney(4)|large_intestine(6)|lung(7)|skin(1)|upper_aerodigestive_tract(2)	28						c.(541-543)tCt>tTt		polycystic kidney disease 2-like 2							113	104	107					5																	137235222		1826	4095	5921	SO:0001583	missense	27039					integral to membrane	calcium ion binding|ion channel activity	g.chr5:137235222C>T	AF118125	CCDS43367.1, CCDS58971.1, CCDS58972.1	5q31	2011-12-16			ENSG00000078795	ENSG00000078795		"Voltage-gated ion channels / Transient receptor potential cation channels"	9012	protein-coding gene	gene with protein product		604669				10602361	Standard	NM_014386		Approved	TRPP5	uc003lbw.1	Q9NZM6	OTTHUMG00000163306	ENST00000508883.1:c.542C>T	5.37:g.137235222C>T	ENSP00000424725:p.Ser181Phe					PKD2L2_ENST00000502810.1_Missense_Mutation_p.S181F|PKD2L2_ENST00000508883.1_Missense_Mutation_p.S181F|PKD2L2_ENST00000290431.5_Missense_Mutation_p.S181F|PKD2L2_ENST00000350250.4_Missense_Mutation_p.S147F	p.S181F	NM_001258449.1	NP_001245378.1	Q9NZM6	PK2L2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)		5	597	+			181					A6NK98|B4DXD2|E9PC91|E9PDG4|Q86YB4|Q9UNJ0	Missense_Mutation	SNP	ENST00000508883.1	37	c.542C>T		.	.	.	.	.	.	.	.	.	.	C	18.71	3.681262	0.68042	.	.	ENSG00000078795	ENST00000503015;ENST00000350250;ENST00000508638;ENST00000502810;ENST00000508883;ENST00000290431	T;T;T;T;T;T	0.70516	-0.49;-0.49;-0.49;-0.49;-0.49;-0.49	5.21	5.21	0.72293	Polycystin cation channel, PKD1/PKD2 (1);	0.759743	0.11990	N	0.509947	T	0.81870	0.4914	M	0.65498	2.005	0.28729	N	0.902612	P;D;P	0.69078	0.747;0.997;0.955	P;D;P	0.64321	0.797;0.924;0.542	T	0.75382	-0.3337	10	0.66056	D	0.02	-1.0142	14.3562	0.66740	0.0:0.8518:0.1482:0.0	.	181;181;181	Q9NZM6;E9PC91;Q9NZM6-5	PK2L2_HUMAN;.;.	F	91;147;181;181;181;181	ENSP00000424885:S91F;ENSP00000344177:S147F;ENSP00000423382:S181F;ENSP00000425513:S181F;ENSP00000424725:S181F;ENSP00000290431:S181F	ENSP00000290431:S181F	S	+	2	0	PKD2L2	137263121	0.928000	0.31464	0.913000	0.36048	0.942000	0.58702	3.308000	0.51896	2.564000	0.86499	0.650000	0.86243	TCT		0.353	PKD2L2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000372521.1	NM_014386		4	58	0	0	0	1	0	4	58					T	137235222	C	T	137235222	3	4	434	1	0	0	0	0	1	0	0	0	11968	913	32	3	560	3	PKD2L2	5	137235222	Missense_Mutation	SNP	C	TCGA-XK-AAIV-01A-11D-A41K-08		137235222	43680038	14	20879											
PCDHGA11	56105	broad.mit.edu	37	chr5	140801597	140801597	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggtgctgatggttaatgcaaCggatccagacgagggaatca	12	8	14	7	2	1	2	1	1	0	1	2	5	2	4	1	4	3	3	1	4	3	1			TCGA-XK-AAIV-01A-11D-A41K-08	TCGA-XK-AAIV-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeaabd2b-588d-4ab0-a18d-66fe3cf89520	406a543f-c14a-4f78-bf50-77ea7e9a8ede	g.chr5:140801597C>T	ENST00000398587.2	+	1	836	c.803C>T	c.(802-804)aCg>aTg	p.T268M	PCDHGA6_ENST00000517434.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA11_ENST00000518882.1_Missense_Mutation_p.T268M|PCDHGA3_ENST00000253812.6_Intron	NM_018914.2|NM_032092.1	NP_061737.1|NP_114481.1	Q9Y5H2	PCDGB_HUMAN	protocadherin gamma subfamily A, 11	268	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|endometrium(8)|kidney(3)|large_intestine(9)|lung(22)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTTAATGCAACGGATCCAGAC	0.438																																						ENST00000398587.2																			0				breast(3)|endometrium(8)|kidney(3)|large_intestine(9)|lung(22)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	49						c.(802-804)aCg>aTg									135	137	136					5																	140801597		1901	4120	6021	SO:0001583	missense	0							g.chr5:140801597C>T	AF152505	CCDS47294.1, CCDS54930.1, CCDS75345.1	5q31	2010-01-26			ENSG00000253873	ENSG00000253873		"Cadherins / Protocadherins : Clustered"	8698	other	protocadherin		606298				10380929	Standard	NM_018914		Approved	PCDH-GAMMA-A11		Q9Y5H2	OTTHUMG00000164055	ENST00000398587.2:c.803C>T	5.37:g.140801597C>T	ENSP00000381589:p.Thr268Met					PCDHGA7_ENST00000518325.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA11_ENST00000518882.1_Missense_Mutation_p.T268M|PCDHGA6_ENST00000517434.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA5_ENST00000518069.1_Intron	p.T268M	NM_018914.2|NM_032092.1	NP_061737.1|NP_114481.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	836	+								B7ZVY8|Q9Y5D8|Q9Y5D9	Missense_Mutation	SNP	ENST00000398587.2	37	c.803C>T	CCDS47294.1	.	.	.	.	.	.	.	.	.	.	c	15.42	2.828486	0.50845	.	.	ENSG00000253873	ENST00000398587;ENST00000518882	T;T	0.03004	4.08;4.08	5.96	4.14	0.48551	Cadherin (5);Cadherin-like (1);	0.000000	0.29616	U	0.011649	T	0.20333	0.0489	M	0.89658	3.05	0.23872	N	0.996609	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.78314	0.977;0.991;0.958	T	0.05582	-1.0876	10	0.72032	D	0.01	.	10.2175	0.43177	0.0:0.6795:0.2523:0.0682	.	268;268;268	Q9Y5H2;Q9Y5H2-3;Q9Y5H2-2	PCDGB_HUMAN;.;.	M	268	ENSP00000381589:T268M;ENSP00000428333:T268M	ENSP00000381589:T268M	T	+	2	0	PCDHGA11	140781781	0.008000	0.16893	0.993000	0.49108	0.778000	0.44026	2.026000	0.41069	1.542000	0.49330	0.655000	0.94253	ACG		0.438	PCDHGA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376974.1	NM_018914		10	113	0	0	0	1	0	10	113					T	140801597	C	T	140801597	3	4	434	1	0	0	0	0	1	0	0	0	11552	536	19	1	805	1	PCDHGA11	5	140801597	Missense_Mutation	SNP	C	TCGA-XK-AAIV-01A-11D-A41K-08	3566375	140801597	40113663	15	20880											
DIAPH1	1729	broad.mit.edu	37	chr5	140954691	140954691	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tttccacctgtagctcatgtCgggctgttaactctgagtcc	6	14	9	12	1	2	1	1	1	1	0	5	1	4	1	3	1	2	4	3	1	2	3			TCGA-XK-AAIV-01A-11D-A41K-08	TCGA-XK-AAIV-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeaabd2b-588d-4ab0-a18d-66fe3cf89520	406a543f-c14a-4f78-bf50-77ea7e9a8ede	g.chr5:140954691C>T	ENST00000398557.4	-	15	1624	c.1484G>A	c.(1483-1485)cGa>cAa	p.R495Q	DIAPH1_ENST00000389054.3_Missense_Mutation_p.R495Q|DIAPH1_ENST00000389057.5_Missense_Mutation_p.R486Q|DIAPH1_ENST00000520569.1_Missense_Mutation_p.R441Q|DIAPH1_ENST00000398562.2_Missense_Mutation_p.R486Q|DIAPH1_ENST00000518047.1_Missense_Mutation_p.R486Q|DIAPH1_ENST00000253811.6_Missense_Mutation_p.R495Q|DIAPH1_ENST00000398566.3_Missense_Mutation_p.R486Q	NM_005219.4	NP_005210.3	O60610	DIAP1_HUMAN	diaphanous-related formin 1	495					actin filament polymerization (GO:0030041)|cellular response to histamine (GO:0071420)|cytoskeleton organization (GO:0007010)|positive regulation of cell migration (GO:0030335)|protein localization to microtubule (GO:0035372)|regulation of cell shape (GO:0008360)|regulation of microtubule-based process (GO:0032886)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|mitotic spindle (GO:0072686)|ruffle membrane (GO:0032587)	ion channel binding (GO:0044325)|poly(A) RNA binding (GO:0044822)|receptor binding (GO:0005102)			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(12)|pancreas(1)|skin(2)|stomach(2)	23			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TAGCTCATGTCGGGCTGTTAA	0.423																																						ENST00000253811.6																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(12)|pancreas(1)|skin(2)|stomach(2)	23						c.(1483-1485)cGa>cAa		diaphanous-related formin 1							125	112	116					5																	140954691		1887	4115	6002	SO:0001583	missense	1729				regulation of microtubule-based process|sensory perception of sound	cytoplasm|cytoskeleton|ruffle membrane	actin binding|receptor binding|Rho GTPase binding	g.chr5:140954691C>T	BC007411		5q31	2013-05-24	2013-05-24		ENSG00000131504	ENSG00000131504			2876	protein-coding gene	gene with protein product		602121	"diaphanous (Drosophila, homolog) 1", "diaphanous homolog 1 (Drosophila)"	DFNA1		9360932, 1350680	Standard	NM_005219		Approved	hDIA1, LFHL1	uc003llb.4	O60610	OTTHUMG00000149893	ENST00000398557.4:c.1484G>A	5.37:g.140954691C>T	ENSP00000381565:p.Arg495Gln					DIAPH1_ENST00000520569.1_Missense_Mutation_p.R441Q|DIAPH1_ENST00000398557.4_Missense_Mutation_p.R495Q|DIAPH1_ENST00000398562.2_Missense_Mutation_p.R486Q|DIAPH1_ENST00000398566.3_Missense_Mutation_p.R486Q|DIAPH1_ENST00000389054.3_Missense_Mutation_p.R495Q|DIAPH1_ENST00000518047.1_Missense_Mutation_p.R486Q|DIAPH1_ENST00000389057.5_Missense_Mutation_p.R486Q	p.R495Q			O60610	DIAP1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		15	1624	-			495					A6NF18|B7ZKW2|E9PEZ2|Q17RN4|Q59FH8|Q9UC76	Missense_Mutation	SNP	ENST00000398557.4	37	c.1484G>A	CCDS43374.1	.	.	.	.	.	.	.	.	.	.	C	33	5.258556	0.95368	.	.	ENSG00000131504	ENST00000389054;ENST00000520569;ENST00000398562;ENST00000389057;ENST00000398566;ENST00000398557;ENST00000253811;ENST00000518047	T;T;T;T;T;T;T;T	0.21543	2.02;2.02;2.0;2.02;2.02;2.02;2.02;2.02	6.07	5.21	0.72293	.	0.000000	0.64402	D	0.000005	T	0.49440	0.1557	M	0.82716	2.605	0.50632	D	0.99988	D;D	0.76494	0.999;0.999	D;D	0.72625	0.978;0.978	T	0.56208	-0.8017	10	0.66056	D	0.02	.	14.4009	0.67044	0.0:0.9285:0.0:0.0715	.	486;495	E9PEZ2;O60610	.;DIAP1_HUMAN	Q	495;441;486;486;486;495;495;486	ENSP00000373706:R495Q;ENSP00000429282:R441Q;ENSP00000381570:R486Q;ENSP00000373709:R486Q;ENSP00000381572:R486Q;ENSP00000381565:R495Q;ENSP00000253811:R495Q;ENSP00000428268:R486Q	ENSP00000253811:R495Q	R	-	2	0	DIAPH1	140934875	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.391000	0.73208	1.587000	0.49959	0.655000	0.94253	CGA		0.423	DIAPH1-203	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		NM_005219		4	43	0	0	0	1	0	4	43					T	140954691	C	T	140954691	3	4	434	1	0	0	0	0	1	0	0	0	4518	884	31	2	2390	2	DIAPH1	5	140954691	Missense_Mutation	SNP	C	TCGA-XK-AAIV-01A-11D-A41K-08	153094	140954691	39960569	16	20881											
CDHR2	54825	broad.mit.edu	37	chr5	176003117	176003117	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caagtgaacttcactggctaCgtggacgagcatgcctcccc	9	8	10	14	2	1	1	1	1	0	0	2	3	2	2	3	2	4	2	3	2	3	2	rs141872147		TCGA-XK-AAIV-01A-11D-A41K-08	TCGA-XK-AAIV-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeaabd2b-588d-4ab0-a18d-66fe3cf89520	406a543f-c14a-4f78-bf50-77ea7e9a8ede	g.chr5:176003117C>T	ENST00000510636.1	+	12	1399	c.1125C>T	c.(1123-1125)taC>taT	p.Y375Y	CDHR2_ENST00000261944.5_Silent_p.Y375Y|CDHR2_ENST00000506348.1_Silent_p.Y375Y	NM_001171976.1	NP_001165447.1	Q9BYE9	CDHR2_HUMAN	cadherin-related family member 2	375	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|negative regulation of cell growth (GO:0030308)	cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1)	56						TCACTGGCTACGTGGACGAGC	0.617																																						ENST00000510636.1																			0				breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1)	56						c.(1123-1125)taC>taT		cadherin-related family member 2		C	,	0,4406		0,0,2203	115	96	102		1125,1125	-2.5	0.7	5	dbSNP_134	102	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	CDHR2	NM_001171976.1,NM_017675.4	,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,	375/1311,375/1311	176003117	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	54825				homophilic cell adhesion|negative regulation of cell growth	apical plasma membrane|cell junction|integral to membrane	calcium ion binding|protein binding	g.chr5:176003117C>T	AB047004	CCDS34297.1	5q35.2	2011-07-01	2010-01-25	2010-01-25		ENSG00000074276		"Cadherins / Cadherin-related"	18231	protein-coding gene	gene with protein product	"protocadherin LKC"		"protocadherin 24"	PCDH24		11082270, 12117771	Standard	NM_001171976		Approved	PC-LKC, FLJ20124, FLJ20383, PCLKC	uc003mem.2	Q9BYE9		ENST00000510636.1:c.1125C>T	5.37:g.176003117C>T						CDHR2_ENST00000506348.1_Silent_p.Y375Y|CDHR2_ENST00000261944.5_Silent_p.Y375Y	p.Y375Y	NM_001171976.1	NP_001165447.1	Q9BYE9	CDHR2_HUMAN			12	1399	+			375			Cadherin 4.		A1L3U4|A6NC80|Q9NXP8	Silent	SNP	ENST00000510636.1	37	c.1125C>T	CCDS34297.1																																																																																				0.617	CDHR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372201.1	NM_017675		12	36	0	0	0	1	0	12	36					T	176003117	C	T	176003117	2	4	434	1	0	0	0	0	0	0	0	1	3119	547	19	1		1	CDHR2	5	176003117	Silent	SNP	C	TCGA-XK-AAIV-01A-11D-A41K-08	35048426	176003117	4912143	17	20882											
IRF4	3662	broad.mit.edu	37	chr6	397234	397234	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cccgcggccaccactggcaaGgcccagcttgtgaaaatggt	9	6	12	14	2	0	1	0	1	0	0	0	1	0	1	4	4	1	2	4	4	3	1			TCGA-XK-AAIV-01A-11D-A41K-08	TCGA-XK-AAIV-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeaabd2b-588d-4ab0-a18d-66fe3cf89520	406a543f-c14a-4f78-bf50-77ea7e9a8ede	g.chr6:397234G>A	ENST00000380956.4	+	5	745	c.619G>A	c.(619-621)Ggc>Agc	p.G207S	IRF4_ENST00000495137.1_3'UTR	NM_001195286.1|NM_002460.3	NP_001182215.1|NP_002451.2	Q15306	IRF4_HUMAN	interferon regulatory factor 4	207					cytokine-mediated signaling pathway (GO:0019221)|defense response to protozoan (GO:0042832)|histone H3 acetylation (GO:0043966)|histone H4 acetylation (GO:0043967)|interferon-gamma-mediated signaling pathway (GO:0060333)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|positive regulation of DNA binding (GO:0043388)|positive regulation of interleukin-10 biosynthetic process (GO:0045082)|positive regulation of interleukin-13 biosynthetic process (GO:0045368)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of interleukin-4 biosynthetic process (GO:0045404)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of T-helper cell differentiation (GO:0045622)|T cell activation (GO:0042110)|T-helper 17 cell lineage commitment (GO:0072540)|transcription, DNA-templated (GO:0006351)|type I interferon signaling pathway (GO:0060337)	cytosol (GO:0005829)|membrane (GO:0016020)|nuclear nucleosome (GO:0000788)|nucleus (GO:0005634)	protein-lysine N-methyltransferase activity (GO:0016279)|regulatory region DNA binding (GO:0000975)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)	5		Breast(5;0.0155)|all_lung(73;0.0691)|all_hematologic(90;0.0895)		OV - Ovarian serous cystadenocarcinoma(45;0.03)|BRCA - Breast invasive adenocarcinoma(62;0.0702)		CCACTGGCAAGGCCCAGCTTG	0.572			T	IGH@	MM																																	ENST00000380956.4				Dom	yes		6	6p25-p23	3662	T	interferon regulatory factor 4			L	IGH@		MM		0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)	5						c.(619-621)Ggc>Agc		interferon regulatory factor 4							81	84	83					6																	397234		2203	4300	6503	SO:0001583	missense	3662				interferon-gamma-mediated signaling pathway|positive regulation of interleukin-10 biosynthetic process|positive regulation of interleukin-13 biosynthetic process|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-4 biosynthetic process|positive regulation of transcription, DNA-dependent|regulation of T-helper cell differentiation|T cell activation|type I interferon-mediated signaling pathway	cytoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding	g.chr6:397234G>A	U52682	CCDS4469.1	6p25-p23	2008-08-29			ENSG00000137265	ENSG00000137265			6119	protein-coding gene	gene with protein product		601900		MUM1		8921401, 18417578	Standard	NM_002460		Approved	LSIRF	uc003msz.4	Q15306	OTTHUMG00000016294	ENST00000380956.4:c.619G>A	6.37:g.397234G>A	ENSP00000370343:p.Gly207Ser					IRF4_ENST00000495137.1_3'UTR	p.G207S	NM_001195286.1|NM_002460.3	NP_001182215.1|NP_002451.2	Q15306	IRF4_HUMAN		OV - Ovarian serous cystadenocarcinoma(45;0.03)|BRCA - Breast invasive adenocarcinoma(62;0.0702)	5	745	+		Breast(5;0.0155)|all_lung(73;0.0691)|all_hematologic(90;0.0895)	207					Q5VUI7|Q99660	Missense_Mutation	SNP	ENST00000380956.4	37	c.619G>A	CCDS4469.1	.	.	.	.	.	.	.	.	.	.	G	14.88	2.668867	0.47677	.	.	ENSG00000137265	ENST00000380956;ENST00000412334	D	0.97041	-4.22	5.52	4.64	0.57946	.	0.562914	0.20490	N	0.091302	D	0.87767	0.6260	L	0.39898	1.24	0.36517	D	0.869937	B;B;B;B	0.13145	0.001;0.007;0.001;0.004	B;B;B;B	0.08055	0.001;0.003;0.002;0.003	T	0.79011	-0.1977	10	0.02654	T	1	-27.4506	10.8577	0.46808	0.1454:0.0:0.8546:0.0	.	207;237;206;207	F2Z3D5;Q99419;Q15306-2;Q15306	.;.;.;IRF4_HUMAN	S	207;236	ENSP00000370343:G207S	ENSP00000370343:G207S	G	+	1	0	IRF4	342234	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.288000	0.43514	1.312000	0.45043	0.555000	0.69702	GGC		0.572	IRF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043638.1			10	56	0	0	0	1	0	10	56					A	397234	G	A	397234	3	1	434	1	0	0	0	0	1	0	0	0	7832	1000	35	3	633	3	IRF4	6	397234	Missense_Mutation	SNP	G	TCGA-XK-AAIV-01A-11D-A41K-08		397234	170717833	18	20883											
HIST1H1A	3024	broad.mit.edu	37	chr6	26017482	26017482	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tggaggatttccttgttgccGcaggctttttagcctttttc	4	18	10	9	1	0	0	0	0	0	0	2	2	1	2	3	3	2	3	3	3	1	8			TCGA-XK-AAIV-01A-11D-A41K-08	TCGA-XK-AAIV-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeaabd2b-588d-4ab0-a18d-66fe3cf89520	406a543f-c14a-4f78-bf50-77ea7e9a8ede	g.chr6:26017482G>A	ENST00000244573.3	-	1	558	c.479C>T	c.(478-480)gCg>gTg	p.A160V		NM_005325.3	NP_005316.1	Q02539	H11_HUMAN	histone cluster 1, H1a	160					nucleosome assembly (GO:0006334)|spermatogenesis (GO:0007283)	nuclear chromatin (GO:0000790)|nuclear euchromatin (GO:0005719)|nucleosome (GO:0000786)	chromatin DNA binding (GO:0031490)			cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|ovary(3)|prostate(1)	13						CCTTGTTGCCGCAGGCTTTTT	0.448																																						ENST00000244573.3																			0				cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|ovary(3)|prostate(1)	13						c.(478-480)gCg>gTg		histone cluster 1, H1a							167	178	174					6																	26017482		2203	4300	6503	SO:0001583	missense	3024				nucleosome assembly|spermatogenesis	nucleosome|nucleus	DNA binding	g.chr6:26017482G>A	AF531299	CCDS4569.1	6p22.1	2012-11-16	2006-10-11	2003-02-21	ENSG00000124610	ENSG00000124610		"Histones / Replication-dependent"	4715	protein-coding gene	gene with protein product		142709	"H1 histone family, member 1", "histone 1, H1a"	H1F1		2759094, 12408966	Standard	NM_005325		Approved	H1.1, H1a	uc003nfo.3	Q02539	OTTHUMG00000016413	ENST00000244573.3:c.479C>T	6.37:g.26017482G>A	ENSP00000244573:p.Ala160Val						p.A160V	NM_005325.3	NP_005316.1	Q02539	H11_HUMAN			1	558	-			160					Q3MJ34	Missense_Mutation	SNP	ENST00000244573.3	37	c.479C>T	CCDS4569.1	.	.	.	.	.	.	.	.	.	.	N	9.635	1.137347	0.21123	.	.	ENSG00000124610	ENST00000244573	T	0.23754	1.89	4.31	1.54	0.23209	.	0.431115	0.23604	N	0.046403	T	0.06645	0.0170	L	0.34521	1.04	0.50813	D	0.999891	B	0.19445	0.036	B	0.15484	0.013	T	0.18650	-1.0330	10	0.21540	T	0.41	-22.2348	9.2885	0.37771	0.2431:0.0:0.7569:0.0	.	160	Q02539	H11_HUMAN	V	160	ENSP00000244573:A160V	ENSP00000244573:A160V	A	-	2	0	HIST1H1A	26125461	0.998000	0.40836	0.016000	0.15963	0.010000	0.07245	4.716000	0.61916	0.175000	0.19841	-0.208000	0.12717	GCG		0.448	HIST1H1A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043884.1	NM_005325		5	185	0	0	0	1	0	5	185					A	26017482	G	A	26017482	3	1	434	1	0	0	0	0	1	0	0	0	7122	1087	38	1	172	1	HIST1H1A	6	26017482	Missense_Mutation	SNP	G	TCGA-XK-AAIV-01A-11D-A41K-08	25620248	26017482	145097585	19	20884											
BACH2	60468	broad.mit.edu	37	chr6	90718518	90718518	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttggtgcagtggactgtggActcatacacatacatggggg	9	10	15	7	0	1	0	1	0	0	0	1	2	1	2	0	5	3	2	0	5	2	3			TCGA-XK-AAIV-01A-11D-A41K-08	TCGA-XK-AAIV-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeaabd2b-588d-4ab0-a18d-66fe3cf89520	406a543f-c14a-4f78-bf50-77ea7e9a8ede	g.chr6:90718518A>T	ENST00000257749.4	-	6	753	c.46T>A	c.(46-48)Tcc>Acc	p.S16T	BACH2_ENST00000537989.1_Missense_Mutation_p.S16T|BACH2_ENST00000343122.3_Missense_Mutation_p.S16T	NM_021813.2	NP_068585.1	Q9BYV9	BACH2_HUMAN	BTB and CNC homology 1, basic leucine zipper transcription factor 2	16						cytoplasm (GO:0005737)|nucleus (GO:0005634)	RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001206)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	45		all_cancers(76;7.37e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.0063)		BRCA - Breast invasive adenocarcinoma(108;0.0799)		TGGACTGTGGACTCATACACA	0.483																																						ENST00000257749.4																			0				central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	45						c.(46-48)Tcc>Acc		BTB and CNC homology 1, basic leucine zipper transcription factor 2							158	148	152					6																	90718518		2203	4300	6503	SO:0001583	missense	60468					nucleus	protein dimerization activity|sequence-specific DNA binding	g.chr6:90718518A>T	AL121787	CCDS5026.1	6q15	2013-01-10			ENSG00000112182	ENSG00000112182		"BTB/POZ domain containing", "basic leucine zipper proteins"	14078	protein-coding gene	gene with protein product		605394				10949928, 12829606	Standard	NM_001170794		Approved	BTBD25	uc003pnw.3	Q9BYV9	OTTHUMG00000015216	ENST00000257749.4:c.46T>A	6.37:g.90718518A>T	ENSP00000257749:p.Ser16Thr					BACH2_ENST00000537989.1_Missense_Mutation_p.S16T|BACH2_ENST00000343122.3_Missense_Mutation_p.S16T	p.S16T	NM_021813.2	NP_068585.1	Q9BYV9	BACH2_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0799)	6	753	-		all_cancers(76;7.37e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.0063)	16					E1P518|Q59H70|Q5T793|Q9NTS5	Missense_Mutation	SNP	ENST00000257749.4	37	c.46T>A	CCDS5026.1	.	.	.	.	.	.	.	.	.	.	A	21.3	4.132992	0.77662	.	.	ENSG00000112182	ENST00000257749;ENST00000537989;ENST00000343122;ENST00000406998;ENST00000453877	T;T;T;T;T	0.22134	1.97;1.97;1.97;1.97;1.97	5.03	5.03	0.67393	BTB/POZ fold (2);	0.000000	0.85682	D	0.000000	T	0.39784	0.1091	M	0.80746	2.51	0.49299	D	0.999775	D	0.67145	0.996	D	0.70935	0.971	T	0.45220	-0.9276	10	0.87932	D	0	-0.3486	15.0569	0.71921	1.0:0.0:0.0:0.0	.	16	Q9BYV9	BACH2_HUMAN	T	16	ENSP00000257749:S16T;ENSP00000437473:S16T;ENSP00000345642:S16T;ENSP00000384145:S16T;ENSP00000397668:S16T	ENSP00000257749:S16T	S	-	1	0	BACH2	90775239	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.821000	0.92009	2.029000	0.59856	0.482000	0.46254	TCC		0.483	BACH2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041522.2	NM_021813		8	49	0	0	0	1	0	8	49					T	90718518	A	T	90718518	3	4	434	1	0	0	0	0	1	0	0	0	1284	275	10	5	2495	5	BACH2	6	90718518	Missense_Mutation	SNP	A	TCGA-XK-AAIV-01A-11D-A41K-08	64701036	90718518	80396549	20	20885											
HOXA3	3200	broad.mit.edu	37	chr7	27148061	27148061	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccaccggctccggggggcaCggggctgcgacttggagact	5	5	18	13	4	0	1	0	0	0	1	1	3	1	1	3	7	1	3	3	7	0	1	rs201998676		TCGA-XK-AAIV-01A-11D-A41K-08	TCGA-XK-AAIV-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeaabd2b-588d-4ab0-a18d-66fe3cf89520	406a543f-c14a-4f78-bf50-77ea7e9a8ede	g.chr7:27148061C>T	ENST00000396352.4	-	3	1004	c.805G>A	c.(805-807)Gtg>Atg	p.V269M	HOXA3_ENST00000521401.1_5'Flank|HOXA-AS2_ENST00000518088.1_RNA|HOXA3_ENST00000317201.2_Missense_Mutation_p.V269M	NM_030661.4	NP_109377.1	O43365	HXA3_HUMAN	homeobox A3	269					angiogenesis (GO:0001525)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|cervix(1)|endometrium(3)|large_intestine(4)|lung(18)|skin(1)	29						CCGGGGGGCACGGGGCTGCGA	0.612																																					Esophageal Squamous(136;1368 1743 5685 7935 50360)	ENST00000396352.4																			0				breast(2)|cervix(1)|endometrium(3)|large_intestine(4)|lung(18)|skin(1)	29						c.(805-807)Gtg>Atg		homeobox A3							100	100	100					7																	27148061		2203	4300	6503	SO:0001583	missense	3200				angiogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:27148061C>T		CCDS5404.1	7p15.2	2011-06-20	2005-12-22		ENSG00000105997	ENSG00000105997		"Homeoboxes / ANTP class : HOXL subclass"	5104	protein-coding gene	gene with protein product		142954	"homeo box A3"	HOX1E, HOX1		1973146, 1358459	Standard	XM_005249730		Approved		uc011jzl.2	O43365	OTTHUMG00000023209	ENST00000396352.4:c.805G>A	7.37:g.27148061C>T	ENSP00000379640:p.Val269Met					HOXA3_ENST00000317201.2_Missense_Mutation_p.V269M|HOXA-AS2_ENST00000518088.1_RNA	p.V269M	NM_030661.4	NP_109377.1	O43365	HXA3_HUMAN			3	1004	-			269					A4D181	Missense_Mutation	SNP	ENST00000396352.4	37	c.805G>A	CCDS5404.1	.	.	.	.	.	.	.	.	.	.	C	16.29	3.080458	0.55753	.	.	ENSG00000105997	ENST00000396352;ENST00000317201;ENST00000396350	D;D	0.86497	-2.13;-2.13	5.56	5.56	0.83823	.	0.000000	0.85682	D	0.000000	D	0.92038	0.7477	L	0.50333	1.59	0.80722	D	1	D	0.89917	1.0	D	0.76071	0.987	D	0.92360	0.5896	10	0.72032	D	0.01	.	19.5376	0.95260	0.0:1.0:0.0:0.0	.	269	O43365	HXA3_HUMAN	M	269;269;111	ENSP00000379640:V269M;ENSP00000324884:V269M	ENSP00000324884:V269M	V	-	1	0	HOXA3	27114586	1.000000	0.71417	0.978000	0.43139	0.861000	0.49209	4.958000	0.63660	2.620000	0.88729	0.655000	0.94253	GTG		0.612	HOXA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358708.2			10	90	0	0	0	1	0	10	90					T	27148061	C	T	27148061	3	4	434	1	0	0	0	0	1	0	0	0	7293	536	19	1	530	1	HOXA3	7	27148061	Missense_Mutation	SNP	C	TCGA-XK-AAIV-01A-11D-A41K-08		27148061	131990602	21	20886											
GTPBP10	85865	broad.mit.edu	37	chr7	89982131	89982131	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tttctcttttttttttaagtAtggaaatttcatcgataagc	10	21	5	5	1	2	0	1	0	1	0	4	2	2	1	0	1	1	1	0	1	4	9			TCGA-XK-AAIV-01A-11D-A41K-08	TCGA-XK-AAIV-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeaabd2b-588d-4ab0-a18d-66fe3cf89520	406a543f-c14a-4f78-bf50-77ea7e9a8ede	g.chr7:89982131A>G	ENST00000222511.6	+	2	101	c.35A>G	c.(34-36)tAt>tGt	p.Y12C	GTPBP10_ENST00000257659.8_Splice_Site_p.Y12C	NM_033107.3	NP_149098.2	A4D1E9	GTPBA_HUMAN	GTP-binding protein 10 (putative)	12					ribosome biogenesis (GO:0042254)	chromosome (GO:0005694)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|magnesium ion binding (GO:0000287)|poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(2)|large_intestine(3)|lung(4)	10						TTTTTTAAGTATGGAAATTTC	0.368											OREG0003797	type=REGULATORY REGION|Gene=BC021573|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																										ENST00000222511.6																			0				endometrium(1)|kidney(2)|large_intestine(3)|lung(4)	10						c.e2-1		GTP-binding protein 10 (putative)							81	82	82					7																	89982131		2203	4300	6503	SO:0001630	splice_region_variant	85865				ribosome biogenesis	chromosome|nucleolus	GTP binding|GTPase activity|magnesium ion binding	g.chr7:89982131A>G		CCDS5617.1, CCDS43614.1	7q21.13	2006-08-15			ENSG00000105793	ENSG00000105793			25106	protein-coding gene	gene with protein product		610920				12477932	Standard	NM_001042717		Approved	DKFZP686A10121, FLJ38242	uc003ukm.2	A4D1E9	OTTHUMG00000023655	ENST00000222511.6:c.34-1A>G	7.37:g.89982131A>G			OREG0003797	type=REGULATORY REGION|Gene=BC021573|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	1271	GTPBP10_ENST00000257659.8_Splice_Site_p.Y12_splice	p.Y12_splice	NM_033107.3	NP_149098.2	A4D1E9	GTPBA_HUMAN			2	101	+			12					B4DFY6|Q3B7A6|Q5H9V2|Q8IXG8|Q8N982|Q8WU16|Q9BSP1|Q9Y6T6	Splice_Site	SNP	ENST00000222511.6	37	c.33_splice	CCDS5617.1	.	.	.	.	.	.	.	.	.	.	A	18.01	3.527515	0.64860	.	.	ENSG00000105793	ENST00000426366;ENST00000450619;ENST00000257659;ENST00000222511;ENST00000417207	T;T;T;T;T	0.31510	2.28;2.26;1.83;2.74;1.49	6.07	3.65	0.41850	.	0.058178	0.64402	D	0.000001	T	0.49660	0.1570	M	0.70595	2.14	0.54753	D	0.999985	D;D;D;D	0.89917	1.0;0.996;0.996;0.999	D;P;P;P	0.77004	0.989;0.838;0.871;0.873	T	0.40346	-0.9568	9	.	.	.	-2.4004	8.4856	0.33069	0.8188:0.0:0.0639:0.1173	.	12;12;3;29	A4D1E9-2;A4D1E9;C9J8R7;C9JNI1	.;GTPBA_HUMAN;.;.	C	3;29;12;12;12	ENSP00000405697:Y3C;ENSP00000389510:Y29C;ENSP00000257659:Y12C;ENSP00000222511:Y12C;ENSP00000416596:Y12C	.	Y	+	2	0	GTPBP10	89820067	1.000000	0.71417	1.000000	0.80357	0.790000	0.44656	4.695000	0.61767	0.499000	0.27970	0.477000	0.44152	TAT		0.368	GTPBP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059976.3	NM_033107	Missense_Mutation	3	16	0	0	0	1	0	3	16					G	89982131	A	G	89982131	5	3	434	1	0	0	0	0	0	0	1	0	6879	463	16	4	41	4	GTPBP10	7	89982131	Splice_Site	SNP	A	TCGA-XK-AAIV-01A-11D-A41K-08	62834070	89982131	69156532	22	20887											
PTCD1	26024	broad.mit.edu	37	chr7	99022540	99022540	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gaccggcaacagcgccttggCcccctccaggtctcccagct	6	6	10	19	2	1	0	0	0	1	0	3	1	2	0	6	3	3	2	6	3	1	1			TCGA-XK-AAIV-01A-11D-A41K-08	TCGA-XK-AAIV-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeaabd2b-588d-4ab0-a18d-66fe3cf89520	406a543f-c14a-4f78-bf50-77ea7e9a8ede	g.chr7:99022540C>T	ENST00000292478.4	-	6	1865	c.1615G>A	c.(1615-1617)Gcc>Acc	p.A539T	ATP5J2-PTCD1_ENST00000413834.1_Missense_Mutation_p.A588T|PTCD1_ENST00000555673.1_Missense_Mutation_p.A588T	NM_015545.3	NP_056360.2	O75127	PTCD1_HUMAN	pentatricopeptide repeat domain 1	539					tRNA 3'-end processing (GO:0042780)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|tRNA binding (GO:0000049)			endometrium(5)|large_intestine(3)|lung(16)|ovary(2)|skin(1)	27	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)		STAD - Stomach adenocarcinoma(171;0.215)			AGCGCCTTGGCCCCCTCCAGG	0.617																																						ENST00000292478.4																			0				endometrium(5)|large_intestine(3)|lung(16)|ovary(2)|skin(1)	27						c.(1615-1617)Gcc>Acc		pentatricopeptide repeat domain 1							73	69	70					7																	99022540		2203	4300	6503	SO:0001583	missense	26024							g.chr7:99022540C>T	AB014532	CCDS34691.1	7q22.1	2006-01-27				ENSG00000106246			22198	protein-coding gene	gene with protein product		614774					Standard	NM_015545		Approved	KIAA0632		O75127		ENST00000292478.4:c.1615G>A	7.37:g.99022540C>T	ENSP00000292478:p.Ala539Thr					ATP5J2-PTCD1_ENST00000413834.1_Missense_Mutation_p.A588T|PTCD1_ENST00000555673.1_Missense_Mutation_p.A588T	p.A539T	NM_015545.3	NP_056360.2			STAD - Stomach adenocarcinoma(171;0.215)		6	1865	-	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)							Q3ZB78|Q66K60|Q9UDV2	Missense_Mutation	SNP	ENST00000292478.4	37	c.1615G>A	CCDS34691.1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.280054	0.80692	.	.	ENSG00000106246;ENSG00000106246;ENSG00000106246;ENSG00000248919	ENST00000292478;ENST00000438524;ENST00000555673;ENST00000413834	D;T;T	0.81821	-1.54;-1.45;-1.45	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	D	0.91768	0.7396	M	0.88181	2.935	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.92803	0.6258	10	0.87932	D	0	-21.588	19.5541	0.95333	0.0:1.0:0.0:0.0	.	588;539	G3V325;O75127	.;PTCD1_HUMAN	T	539;321;588;588	ENSP00000292478:A539T;ENSP00000450995:A588T;ENSP00000400168:A588T	ENSP00000400168:A588T	A	-	1	0	ATP5J2-PTCD1;PTCD1	98860476	1.000000	0.71417	0.902000	0.35471	0.257000	0.26127	7.484000	0.81180	2.617000	0.88574	0.561000	0.74099	GCC		0.617	PTCD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336391.1	NM_015545		3	36	0	0	0	1	0	3	36					T	99022540	C	T	99022540	3	4	434	1	0	0	0	0	1	0	0	0	12727	739	26	3	499	3	PTCD1	7	99022540	Missense_Mutation	SNP	C	TCGA-XK-AAIV-01A-11D-A41K-08	9040409	99022540	60116123	23	20888											
NKAIN3	286183	broad.mit.edu	37	chr8	63659613	63659613	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atgatggacgattacacgtaCgtctctgtcacaggctgcat	10	11	10	10	3	2	1	1	1	1	0	3	3	2	2	0	2	3	3	0	2	2	2			TCGA-XK-AAIV-01A-11D-A41K-08	TCGA-XK-AAIV-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeaabd2b-588d-4ab0-a18d-66fe3cf89520	406a543f-c14a-4f78-bf50-77ea7e9a8ede	g.chr8:63659613C>T	ENST00000523211.1	+	4	528	c.396C>T	c.(394-396)taC>taT	p.Y132Y	NKAIN3_ENST00000328472.5_Silent_p.Y132Y|NKAIN3_ENST00000519049.1_3'UTR	NM_173688.2	NP_775959.1	Q8N8D7	NKAI3_HUMAN	Na+/K+ transporting ATPase interacting 3	132						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				kidney(3)|large_intestine(2)|lung(8)	13	Breast(64;0.127)	Lung NSC(129;0.187)				ATTACACGTACGTCTCTGTCA	0.493																																						ENST00000523211.1																			0				kidney(3)|large_intestine(2)|lung(8)	13						c.(394-396)taC>taT		Na+/K+ transporting ATPase interacting 3							131	132	132					8																	63659613		2094	4224	6318	SO:0001819	synonymous_variant	286183					integral to membrane|plasma membrane		g.chr8:63659613C>T	AK096949	CCDS55239.1	8q12.3	2014-08-12	2007-10-04	2007-10-04	ENSG00000185942	ENSG00000185942		"Na+/K+ transporting ATPase interacting"	26829	protein-coding gene	gene with protein product		612872	"family with sequence similarity 77, member D"	FAM77D		17606467	Standard	NM_173688		Approved	FLJ39630	uc010lyq.1	Q8N8D7	OTTHUMG00000164361	ENST00000523211.1:c.396C>T	8.37:g.63659613C>T						NKAIN3_ENST00000328472.5_Silent_p.Y132Y|NKAIN3_ENST00000519049.1_3'UTR	p.Y132Y	NM_173688.2	NP_775959.1	Q8N8D7	NKAI3_HUMAN			4	528	+	Breast(64;0.127)	Lung NSC(129;0.187)	132						Silent	SNP	ENST00000523211.1	37	c.396C>T	CCDS55239.1																																																																																				0.493	NKAIN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378447.2	NM_173688		10	60	0	0	0	1	0	10	60					T	63659613	C	T	63659613	2	4	434	1	0	0	0	0	0	0	0	1	10437	547	19	1		1	NKAIN3	8	63659613	Silent	SNP	C	TCGA-XK-AAIV-01A-11D-A41K-08		63659613	82704409	24	20889											
LRRC67	286187	broad.mit.edu	37	chr8	67925324	67925324	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gacagcaatgtaattgcctcCcagatacctgcaaaacatag	15	8	7	11	0	0	1	0	0	0	1	1	2	1	1	3	0	5	3	3	0	6	4			TCGA-XK-AAIV-01A-11D-A41K-08	TCGA-XK-AAIV-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeaabd2b-588d-4ab0-a18d-66fe3cf89520	406a543f-c14a-4f78-bf50-77ea7e9a8ede	g.chr8:67925324C>T	ENST00000324682.5	-	4	448	c.304G>A	c.(304-306)Gga>Aga	p.G102R	PPP1R42_ENST00000522909.1_Missense_Mutation_p.G102R|PPP1R42_ENST00000517834.1_5'UTR	NM_001013626.2	NP_001013648.1	Q7Z4L9	PPR42_HUMAN	protein phosphatase 1, regulatory subunit 42	102					regulation of phosphatase activity (GO:0010921)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|manchette (GO:0002177)|microtubule cytoskeleton (GO:0015630)|microtubule organizing center (GO:0005815)	actin binding (GO:0003779)|dynein binding (GO:0045502)|tubulin binding (GO:0015631)										TAATTGCCTCCCAGATACCTG	0.383																																						ENST00000522909.1																			0											c.(304-306)Gga>Aga		protein phosphatase 1, regulatory subunit 42							101	102	102					8																	67925324		2203	4300	6503	SO:0001583	missense	286187							g.chr8:67925324C>T	BC055413	CCDS34902.1	8q13.1-q13.2	2012-04-17	2011-10-11	2011-10-11	ENSG00000178125	ENSG00000178125		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	33732	protein-coding gene	gene with protein product	"testis leucine-rich repeat"		"leucine rich repeat containing 67"	LRRC67			Standard	NM_001013626		Approved	dtr, TLLR	uc003xxc.3	Q7Z4L9	OTTHUMG00000164745	ENST00000324682.5:c.304G>A	8.37:g.67925324C>T	ENSP00000315035:p.Gly102Arg					PPP1R42_ENST00000324682.5_Missense_Mutation_p.G102R|PPP1R42_ENST00000517834.1_5'UTR	p.G102R			Q7Z4L9	LRC67_HUMAN			4	488	-			102						Missense_Mutation	SNP	ENST00000324682.5	37	c.304G>A	CCDS34902.1	.	.	.	.	.	.	.	.	.	.	C	29.7	5.029396	0.93518	.	.	ENSG00000178125	ENST00000522909;ENST00000421742;ENST00000324682	T;T	0.09445	2.98;2.98	5.39	5.39	0.77823	.	0.000000	0.85682	D	0.000000	T	0.32102	0.0818	M	0.79475	2.455	0.80722	D	1	D	0.60575	0.988	P	0.57425	0.82	T	0.06110	-1.0845	10	0.87932	D	0	-11.3241	19.1563	0.93511	0.0:1.0:0.0:0.0	.	102	Q7Z4L9-2	.	R	102	ENSP00000429721:G102R;ENSP00000315035:G102R	ENSP00000315035:G102R	G	-	1	0	LRRC67	68087878	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.953000	0.70290	2.528000	0.85240	0.650000	0.86243	GGA		0.383	PPP1R42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380034.2	NM_001013626		17	59	0	0	0	1	0	17	59					T	67925324	C	T	67925324	3	4	434	1	0	0	0	0	1	0	0	0	9019	632	22	3	394	3	LRRC67	8	67925324	Missense_Mutation	SNP	C	TCGA-XK-AAIV-01A-11D-A41K-08	4265711	67925324	78438698	25	20890											
RAD54B	25788	broad.mit.edu	37	chr8	95403998	95403998	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aatctgtagtgctcctggtcGgcaaaagacaacattctcta	12	11	8	10	1	2	1	0	0	2	1	5	1	3	1	1	2	2	3	1	2	6	3	rs377463964		TCGA-XK-AAIV-01A-11D-A41K-08	TCGA-XK-AAIV-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeaabd2b-588d-4ab0-a18d-66fe3cf89520	406a543f-c14a-4f78-bf50-77ea7e9a8ede	g.chr8:95403998G>A	ENST00000336148.5	-	10	1772	c.1648C>T	c.(1648-1650)Cga>Tga	p.R550*		NM_012415.3	NP_036547.1	Q9Y620	RA54B_HUMAN	RAD54 homolog B (S. cerevisiae)	550					ATP catabolic process (GO:0006200)|DNA duplex unwinding (GO:0032508)|double-strand break repair via homologous recombination (GO:0000724)|mitotic recombination (GO:0006312)|reciprocal meiotic recombination (GO:0007131)	nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|RNA helicase activity (GO:0003724)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(10)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39	Breast(36;4.5e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00217)			GCTCCTGGTCGGCAAAAGACA	0.393								Direct reversal of damage;Homologous recombination																														ENST00000336148.5																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(10)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						c.(1648-1650)Cga>Tga	Direct reversal of damage;Homologous recombination	RAD54 homolog B (S. cerevisiae)		G	stop/ARG,stop/ARG	0,4406		0,0,2203	120	126	124		1096,1648	4.1	1	8		124	1,8599	1.2+/-3.3	0,1,4299	no	stop-gained,stop-gained	RAD54B	NM_001205263.1,NM_012415.3	,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,	366/727,550/911	95403998	1,13005	2203	4300	6503	SO:0001587	stop_gained	25788				double-strand break repair via homologous recombination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA translocase activity|protein binding	g.chr8:95403998G>A	AF112481	CCDS6262.1, CCDS56546.1, CCDS75768.1	8q22.1	2014-08-08			ENSG00000197275	ENSG00000197275			17228	protein-coding gene	gene with protein product		604289				10362364, 10851248	Standard	NM_012415		Approved	RDH54	uc003ygk.3	Q9Y620	OTTHUMG00000133658	ENST00000336148.5:c.1648C>T	8.37:g.95403998G>A	ENSP00000336606:p.Arg550*						p.R550*	NM_012415.3	NP_036547.1	O95073	FSBP_HUMAN	BRCA - Breast invasive adenocarcinoma(8;0.00217)		10	1772	-	Breast(36;4.5e-05)		0					F6WBS8	Nonsense_Mutation	SNP	ENST00000336148.5	37	c.1648C>T	CCDS6262.1	.	.	.	.	.	.	.	.	.	.	G	27.1	4.797993	0.90538	0.0	1.16E-4	ENSG00000197275	ENST00000336148;ENST00000546218	.	.	.	4.96	4.08	0.47627	.	0.595728	0.18049	N	0.153376	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-1.376	13.6236	0.62150	0.0755:0.0:0.9245:0.0	.	.	.	.	X	550;222	.	ENSP00000336606:R550X	R	-	1	2	RAD54B	95473174	1.000000	0.71417	0.998000	0.56505	0.719000	0.41307	2.895000	0.48648	1.206000	0.43276	-0.145000	0.13849	CGA		0.393	RAD54B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257806.3	NM_012415		65	98	0	0	0	1	0	65	98					A	95403998	G	A	95403998	4	1	434	1	0	0	0	0	0	1	0	0	12992	1124	39	2	1108	2	RAD54B	8	95403998	Nonsense_Mutation	SNP	G	TCGA-XK-AAIV-01A-11D-A41K-08	27478674	95403998	50960024	26	20891											
EBAG9	9166	broad.mit.edu	37	chr8	110563058	110563058	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ggttttgattcccaccatggCcatcacccagtttcggttat	7	14	8	12	1	1	1	1	1	0	0	3	1	2	1	4	3	0	3	4	3	1	5			TCGA-XK-AAIV-01A-11D-A41K-08	TCGA-XK-AAIV-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeaabd2b-588d-4ab0-a18d-66fe3cf89520	406a543f-c14a-4f78-bf50-77ea7e9a8ede	g.chr8:110563058C>T	ENST00000337573.5	+	2	305	c.5C>T	c.(4-6)gCc>gTc	p.A2V	EBAG9_ENST00000531677.1_Missense_Mutation_p.A2V|EBAG9_ENST00000395785.2_Missense_Mutation_p.A2V|EBAG9_ENST00000529502.1_3'UTR	NM_001278938.1|NM_004215.3	NP_001265867.1|NP_004206.1	O00559	RCAS1_HUMAN	estrogen receptor binding site associated, antigen, 9	2					regulation of cell growth (GO:0001558)	focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)	peptidase activator activity involved in apoptotic process (GO:0016505)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(2)	10			OV - Ovarian serous cystadenocarcinoma(57;1.39e-14)			CCCACCATGGCCATCACCCAG	0.348																																						ENST00000337573.5																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(2)	10						c.(4-6)gCc>gTc		estrogen receptor binding site associated, antigen, 9							81	73	75					8																	110563058		2203	4299	6502	SO:0001583	missense	9166				apoptosis|regulation of cell growth	focal adhesion|Golgi membrane|integral to membrane|soluble fraction	apoptotic protease activator activity	g.chr8:110563058C>T	AB007619	CCDS6313.1	8q23	2013-03-07			ENSG00000147654	ENSG00000147654			3123	protein-coding gene	gene with protein product		605772					Standard	NM_004215		Approved	EB9, RCAS1	uc003ynf.3	O00559	OTTHUMG00000165346	ENST00000337573.5:c.5C>T	8.37:g.110563058C>T	ENSP00000337675:p.Ala2Val					EBAG9_ENST00000531677.1_Missense_Mutation_p.A2V|EBAG9_ENST00000395785.2_Missense_Mutation_p.A2V|EBAG9_ENST00000529502.1_3'UTR	p.A2V	NM_004215.3	NP_004206.1	O00559	RCAS1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;1.39e-14)		2	305	+			2					A8K3N6|Q5Y8C7|Q6IB20|Q9BS76	Missense_Mutation	SNP	ENST00000337573.5	37	c.5C>T	CCDS6313.1	.	.	.	.	.	.	.	.	.	.	C	27.1	4.802582	0.90623	.	.	ENSG00000147654	ENST00000395785;ENST00000337573;ENST00000530629;ENST00000534318;ENST00000531677	.	.	.	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	T	0.66167	0.2762	M	0.70595	2.14	0.80722	D	1	P	0.42296	0.775	B	0.41412	0.356	T	0.70274	-0.4917	9	0.62326	D	0.03	-11.0436	17.4978	0.87723	0.0:1.0:0.0:0.0	.	2	O00559	RCAS1_HUMAN	V	2	.	ENSP00000337675:A2V	A	+	2	0	EBAG9	110632234	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	7.380000	0.79704	2.880000	0.98712	0.650000	0.86243	GCC		0.348	EBAG9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383536.1	NM_004215		3	43	0	0	0	1	0	3	43					T	110563058	C	T	110563058	3	4	434	1	0	0	0	0	1	0	0	0	4879	739	26	3	7	3	EBAG9	8	110563058	Missense_Mutation	SNP	C	TCGA-XK-AAIV-01A-11D-A41K-08	15159060	110563058	35800964	27	20892											
FLJ46321	389763	broad.mit.edu	37	chr9	84608365	84608365	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accctgtctcctcacctgtcGtccaagaagggcaggggacc	8	7	11	15	1	2	1	1	0	1	1	5	2	3	2	5	3	0	1	5	3	2	0	rs370117363		TCGA-XK-AAIV-01A-11D-A41K-08	TCGA-XK-AAIV-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeaabd2b-588d-4ab0-a18d-66fe3cf89520	406a543f-c14a-4f78-bf50-77ea7e9a8ede	g.chr9:84608365G>A	ENST00000344803.2	+	4	3027	c.2980G>A	c.(2980-2982)Gtc>Atc	p.V994I		NM_001001670.2	NP_001001670.1	Q6ZQQ2	S31D1_HUMAN	SPATA31 subfamily D, member 1	994					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											CTCACCTGTCGTCCAAGAAGG	0.502																																						ENST00000344803.2																			0											c.(2980-2982)Gtc>Atc		SPATA31 subfamily D, member 1		G	ILE/VAL	0,3878		0,0,1939	144	146	146		2980	-1.3	0	9		146	1,8279		0,1,4139	no	missense	FAM75D1	NM_001001670.2	29	0,1,6078	AA,AG,GG		0.0121,0.0,0.0082	benign	994/1577	84608365	1,12157	1939	4140	6079	SO:0001583	missense	389763							g.chr9:84608365G>A		CCDS47986.1	9q21.32	2012-10-12	2012-10-12	2012-10-12	ENSG00000214929	ENSG00000214929			37283	protein-coding gene	gene with protein product			"family with sequence similarity 75, member D1"	FAM75D1			Standard	NM_001001670		Approved	FLJ46321	uc004amn.3	Q6ZQQ2	OTTHUMG00000169122	ENST00000344803.2:c.2980G>A	9.37:g.84608365G>A	ENSP00000341988:p.Val994Ile						p.V994I	NM_001001670.2	NP_001001670.1					4	3027	+									Missense_Mutation	SNP	ENST00000344803.2	37	c.2980G>A	CCDS47986.1	.	.	.	.	.	.	.	.	.	.	G	7.888	0.731644	0.15507	0.0	1.21E-4	ENSG00000214929	ENST00000344803	T	0.04917	3.53	2.45	-1.28	0.09318	.	.	.	.	.	T	0.02610	0.0079	N	0.08118	0	0.09310	N	1	B	0.30326	0.276	B	0.27500	0.08	T	0.43048	-0.9415	9	0.37606	T	0.19	.	2.3029	0.04167	0.3792:0.0:0.3883:0.2325	.	994	Q6ZQQ2	F75D1_HUMAN	I	994	ENSP00000341988:V994I	ENSP00000341988:V994I	V	+	1	0	FAM75D1	83798185	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.401000	0.07232	-0.276000	0.09206	-0.233000	0.12211	GTC		0.502	SPATA31D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402325.1	NM_001001670		14	119	0	0	0	1	0	14	119					A	84608365	G	A	84608365	3	1	434	1	0	0	0	0	1	0	0	0	5932	1145	40	1	2994	1	FLJ46321	9	84608365	Missense_Mutation	SNP	G	TCGA-XK-AAIV-01A-11D-A41K-08		84608365	56605066	28	20893											
C10orf18	54906	broad.mit.edu	37	chr10	5803309	5803309	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gaagtcatttcagagtgcaaAtatcattgaattgcttcatt	13	15	7	6	0	4	2	4	1	0	1	4	3	4	2	0	0	2	2	0	0	4	6			TCGA-XK-AAIV-01A-11D-A41K-08	TCGA-XK-AAIV-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeaabd2b-588d-4ab0-a18d-66fe3cf89520	406a543f-c14a-4f78-bf50-77ea7e9a8ede	g.chr10:5803309A>G	ENST00000328090.5	+	19	7674	c.7049A>G	c.(7048-7050)aAt>aGt	p.N2350S		NM_017782.4	NP_060252	Q5VWN6	F208B_HUMAN	family with sequence similarity 208, member B	2350																	CAGAGTGCAAATATCATTGAA	0.318																																						ENST00000328090.5																			0											c.(7048-7050)aAt>aGt		family with sequence similarity 208, member B							119	112	114					10																	5803309		1881	4112	5993	SO:0001583	missense	54906							g.chr10:5803309A>G	BX649177	CCDS41485.1	10p15.1	2011-09-14	2011-09-14	2011-09-14	ENSG00000108021	ENSG00000108021			23484	protein-coding gene	gene with protein product			"chromosome 10 open reading frame 18"	C10orf18		12477932	Standard	NM_017782		Approved	FLJ20360, bA318E3.2, KIAA2006	uc001iij.3	Q5VWN6	OTTHUMG00000017605	ENST00000328090.5:c.7049A>G	10.37:g.5803309A>G	ENSP00000328426:p.Asn2350Ser						p.N2350S	NM_017782.4	NP_060252.4	Q5VWN6	CJ018_HUMAN			19	7674	+			2350					Q2YD91|Q5VWN5|Q6ZRQ8|Q8IVG4|Q9BUZ7|Q9H5J9|Q9H7A4|Q9H996|Q9NXA1	Missense_Mutation	SNP	ENST00000328090.5	37	c.7049A>G	CCDS41485.1	.	.	.	.	.	.	.	.	.	.	A	12.72	2.023516	0.35701	.	.	ENSG00000108021	ENST00000328090;ENST00000442808	T	0.41400	1.0	6.06	3.72	0.42706	.	0.248296	0.35262	N	0.003331	T	0.39759	0.1090	M	0.70595	2.14	0.28687	N	0.904807	P	0.44429	0.835	B	0.37422	0.249	T	0.41963	-0.9479	10	0.62326	D	0.03	.	10.3128	0.43718	0.8657:0.0:0.1343:0.0	.	2350	Q5VWN6	F208B_HUMAN	S	2350;1545	ENSP00000328426:N2350S	ENSP00000328426:N2350S	N	+	2	0	C10orf18	5843315	0.070000	0.21116	0.470000	0.27216	0.271000	0.26615	2.681000	0.46926	0.526000	0.28541	0.528000	0.53228	AAT		0.318	FAM208B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046571.2	NM_017782		11	53	0	0	0	1	0	11	53					G	5803309	A	G	5803309	3	3	434	1	0	0	0	0	1	0	0	0	1596	101	4	4	7111	4	C10orf18	10	5803309	Missense_Mutation	SNP	A	TCGA-XK-AAIV-01A-11D-A41K-08		5803309	129731438	29	20894											
PARD3	56288	broad.mit.edu	37	chr10	34739266	34739266	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgttcttgtttctccagccaCttgcccaccattgggtgact	5	15	8	13	0	2	1	0	1	2	0	3	1	2	1	4	1	2	2	4	1	0	5			TCGA-XK-AAIV-01A-11D-A41K-08	TCGA-XK-AAIV-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeaabd2b-588d-4ab0-a18d-66fe3cf89520	406a543f-c14a-4f78-bf50-77ea7e9a8ede	g.chr10:34739266C>A	ENST00000374789.3	-	5	1018	c.693G>T	c.(691-693)aaG>aaT	p.K231N	PARD3_ENST00000545693.1_Missense_Mutation_p.K231N|PARD3_ENST00000374794.3_Intron|PARD3_ENST00000374790.3_Intron|PARD3_ENST00000350537.4_Missense_Mutation_p.K231N|PARD3_ENST00000374788.3_Missense_Mutation_p.K231N|PARD3_ENST00000346874.4_Missense_Mutation_p.K231N|PARD3_ENST00000374773.1_Missense_Mutation_p.K231N|PARD3_ENST00000374776.1_Missense_Mutation_p.K231N|PARD3_ENST00000545260.1_Intron|PARD3_ENST00000340077.5_Missense_Mutation_p.K231N	NM_019619.3	NP_062565.2	Q8TEW0	PARD3_HUMAN	par-3 family cell polarity regulator	231					apical constriction (GO:0003383)|asymmetric cell division (GO:0008356)|axonogenesis (GO:0007409)|cell cycle (GO:0007049)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|centrosome localization (GO:0051642)|establishment of epithelial cell polarity (GO:0090162)|establishment or maintenance of cell polarity (GO:0007163)|microtubule cytoskeleton organization (GO:0000226)|myelination in peripheral nervous system (GO:0022011)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|positive regulation of myelination (GO:0031643)|protein complex assembly (GO:0006461)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein targeting to membrane (GO:0006612)|regulation of actin filament-based process (GO:0032970)|regulation of cellular localization (GO:0060341)|tight junction assembly (GO:0070830)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing, spreading of cells (GO:0044319)	apical part of cell (GO:0045177)|axonal growth cone (GO:0044295)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|internode region of axon (GO:0033269)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|spindle (GO:0005819)|tight junction (GO:0005923)	phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	63		Breast(68;0.0707)				TCTCCAGCCACTTGCCCACCA	0.478																																						ENST00000374789.3																			0				NS(2)|breast(4)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	63						c.(691-693)aaG>aaT		par-3 family cell polarity regulator							123	113	116					10																	34739266		2203	4300	6503	SO:0001583	missense	56288				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|asymmetric cell division|axonogenesis|cell cycle|establishment of epithelial cell polarity|protein complex assembly|protein targeting to membrane|tight junction assembly	cell cortex|cytoskeleton|cytosol|endomembrane system|tight junction	phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|protein binding	g.chr10:34739266C>A	AF252293	CCDS7178.1, CCDS53509.1, CCDS53510.1, CCDS53511.1, CCDS53512.1, CCDS53513.1, CCDS53514.1, CCDS53515.1, CCDS53516.1	10p11.22	2014-06-13	2013-08-28		ENSG00000148498	ENSG00000148498			16051	protein-coding gene	gene with protein product	"atypical PKC isotype-specific interacting protein", "par-3 family cell polarity regulator alpha", "protein phosphatase 1, regulatory subunit 118"	606745	"par-3 (partitioning defective 3, C.elegans) homolog", "par-3 partitioning defective 3 homolog (C. elegans)"			10934474	Standard	NM_001184790		Approved	PAR3, PARD3A, Bazooka, Baz, ASIP, PPP1R118	uc010qej.2	Q8TEW0	OTTHUMG00000017948	ENST00000374789.3:c.693G>T	10.37:g.34739266C>A	ENSP00000363921:p.Lys231Asn					PARD3_ENST00000374794.3_Intron|PARD3_ENST00000374776.1_Missense_Mutation_p.K231N|PARD3_ENST00000374788.3_Missense_Mutation_p.K231N|PARD3_ENST00000545260.1_Intron|PARD3_ENST00000374790.3_Intron|PARD3_ENST00000350537.4_Missense_Mutation_p.K231N|PARD3_ENST00000346874.4_Missense_Mutation_p.K231N|PARD3_ENST00000545693.1_Missense_Mutation_p.K231N|PARD3_ENST00000340077.5_Missense_Mutation_p.K231N|PARD3_ENST00000374773.1_Missense_Mutation_p.K231N	p.K231N	NM_019619.3	NP_062565.2	Q8TEW0	PARD3_HUMAN			5	1018	-		Breast(68;0.0707)	231					F5H5T0|Q5T2U1|Q5VUA2|Q5VUA3|Q5VWV0|Q5VWV1|Q5VWV3|Q5VWV4|Q5VWV5|Q6IQ47|Q8TCZ9|Q8TEW1|Q8TEW2|Q8TEW3|Q96K28|Q96RM6|Q96RM7|Q9BY57|Q9BY58|Q9HC48|Q9NWL4|Q9NYE6	Missense_Mutation	SNP	ENST00000374789.3	37	c.693G>T	CCDS7178.1	.	.	.	.	.	.	.	.	.	.	C	8.650	0.897966	0.17686	.	.	ENSG00000148498	ENST00000545693;ENST00000374789;ENST00000374788;ENST00000346874;ENST00000350537;ENST00000374776;ENST00000340077;ENST00000374773	T;T;T;T;T;T;T;T	0.45668	0.89;0.89;0.89;0.89;0.89;0.89;0.89;0.89	5.91	3.1	0.35709	.	0.379933	0.29307	N	0.012534	T	0.23727	0.0574	N	0.14661	0.345	0.80722	D	1	B;B;B;B;B;B;B;B;B	0.31383	0.321;0.034;0.21;0.034;0.034;0.061;0.043;0.077;0.077	B;B;B;B;B;B;B;B;B	0.29862	0.108;0.062;0.108;0.062;0.062;0.028;0.062;0.062;0.062	T	0.03957	-1.0989	10	0.28530	T	0.3	.	9.907	0.41381	0.0:0.7249:0.0:0.2751	.	231;231;231;231;231;231;231;231;231	Q8TEW0-7;Q8TEW0-6;F5H5T0;Q8TEW0-4;Q8TEW0-2;Q8TEW0;Q8TEW0-8;Q8TEW0-9;Q8TEW0-10	.;.;.;.;.;PARD3_HUMAN;.;.;.	N	231	ENSP00000443147:K231N;ENSP00000363921:K231N;ENSP00000363920:K231N;ENSP00000340591:K231N;ENSP00000311986:K231N;ENSP00000363908:K231N;ENSP00000341844:K231N;ENSP00000363905:K231N	ENSP00000341844:K231N	K	-	3	2	PARD3	34779272	0.998000	0.40836	0.998000	0.56505	0.024000	0.10985	0.494000	0.22467	0.415000	0.25817	-0.145000	0.13849	AAG		0.478	PARD3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047527.1	NM_019619		11	77	1	0	3.86212e-05	1	4.08601e-05	11	77					A	34739266	C	A	34739266	3	1	434	1	0	0	0	0	1	0	0	0	11443	564	20	5	3496	5	PARD3	10	34739266	Missense_Mutation	SNP	C	TCGA-XK-AAIV-01A-11D-A41K-08	28935957	34739266	100795481	30	20895											
SORCS1	114815	broad.mit.edu	37	chr10	108412204	108412204	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtcagctttccatcagccGtgactatccgcagcccccgc	6	9	8	18	3	2	1	2	1	0	0	4	1	4	1	5	0	3	2	5	0	1	2			TCGA-XK-AAIV-01A-11D-A41K-08	TCGA-XK-AAIV-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeaabd2b-588d-4ab0-a18d-66fe3cf89520	406a543f-c14a-4f78-bf50-77ea7e9a8ede	g.chr10:108412204G>A	ENST00000263054.6	-	18	2418	c.2411C>T	c.(2410-2412)aCg>aTg	p.T804M	SORCS1_ENST00000369698.1_Missense_Mutation_p.T339M|SORCS1_ENST00000344440.6_Missense_Mutation_p.T804M	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN	sortilin-related VPS10 domain containing receptor 1	804	PKD. {ECO:0000255|PROSITE- ProRule:PRU00151}.				neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	neuropeptide receptor activity (GO:0008188)			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		TCCATCAGCCGTGACTATCCG	0.532																																						ENST00000263054.6																			0				breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127						c.(2410-2412)aCg>aTg		sortilin-related VPS10 domain containing receptor 1							117	106	110					10																	108412204		2203	4300	6503	SO:0001583	missense	114815					integral to membrane	neuropeptide receptor activity|protein binding	g.chr10:108412204G>A	AF284756	CCDS7559.1	10q23-q25	2004-04-20			ENSG00000108018	ENSG00000108018			16697	protein-coding gene	gene with protein product		606283				11499680	Standard	NM_001206570		Approved	sorCS1	uc001kyl.3	Q8WY21	OTTHUMG00000019018	ENST00000263054.6:c.2411C>T	10.37:g.108412204G>A	ENSP00000263054:p.Thr804Met					SORCS1_ENST00000344440.6_Missense_Mutation_p.T804M|SORCS1_ENST00000369698.1_Missense_Mutation_p.T339M	p.T804M	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN		Epithelial(162;1.66e-05)|all cancers(201;0.000689)	18	2418	-		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)	804			PKD.		A2RRF4|Q59GG7|Q5JVT7|Q5JVT8|Q5VY14|Q86WQ1|Q86WQ2|Q9H1Y1|Q9H1Y2	Missense_Mutation	SNP	ENST00000263054.6	37	c.2411C>T	CCDS7559.1	.	.	.	.	.	.	.	.	.	.	G	16.83	3.231893	0.58777	.	.	ENSG00000108018	ENST00000369698;ENST00000263054;ENST00000344440	T;T;T	0.69561	-0.41;-0.41;-0.41	5.74	5.74	0.90152	PKD/Chitinase domain (1);PKD domain (1);	0.000000	0.85682	D	0.000000	T	0.80924	0.4717	L	0.61218	1.895	0.54753	D	0.999989	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.87578	0.998;0.993;0.997;0.998;0.997	T	0.78580	-0.2149	9	.	.	.	-17.2727	19.9145	0.97053	0.0:0.0:1.0:0.0	.	804;804;804;804;804	A8K182;Q8WY21-4;Q8WY21-3;Q8WY21;Q8WY21-2	.;.;.;SORC1_HUMAN;.	M	339;804;804	ENSP00000358712:T339M;ENSP00000263054:T804M;ENSP00000345964:T804M	.	T	-	2	0	SORCS1	108402194	1.000000	0.71417	0.959000	0.39883	0.138000	0.21146	9.277000	0.95755	2.709000	0.92574	0.655000	0.94253	ACG		0.532	SORCS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050232.4	NM_052918		7	63	0	0	0	1	0	7	63					A	108412204	G	A	108412204	3	1	434	1	0	0	0	0	1	0	0	0	14930	1145	40	1	1365	1	SORCS1	10	108412204	Missense_Mutation	SNP	G	TCGA-XK-AAIV-01A-11D-A41K-08	73672938	108412204	27122543	31	20896											
MRGPRX1	259249	broad.mit.edu	37	chr11	18955602	18955602	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaataagacttccctgtccaCgtggatccataaaaatagga	16	9	7	9	1	0	1	0	0	0	1	3	3	3	3	3	2	0	0	3	2	6	4			TCGA-XK-AAIV-01A-11D-A41K-08	TCGA-XK-AAIV-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeaabd2b-588d-4ab0-a18d-66fe3cf89520	406a543f-c14a-4f78-bf50-77ea7e9a8ede	g.chr11:18955602C>T	ENST00000302797.3	-	1	954	c.730G>A	c.(730-732)Gtg>Atg	p.V244M	RP11-583F24.8_ENST00000528646.1_RNA|MRGPRX1_ENST00000526914.1_5'Flank	NM_147199.3	NP_671732.3	Q96LB2	MRGX1_HUMAN	MAS-related GPR, member X1	244					acute-phase response (GO:0006953)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|pancreas(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						TCCCTGTCCACGTGGATCCAT	0.478																																						ENST00000302797.3																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|pancreas(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						c.(730-732)Gtg>Atg		MAS-related GPR, member X1							75	68	71					11																	18955602		2194	4287	6481	SO:0001583	missense	259249				acute-phase response	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr11:18955602C>T		CCDS7846.1	11p15.1	2013-10-10			ENSG00000170255	ENSG00000170255		"GPCR / Class A : Orphans"	17962	protein-coding gene	gene with protein product		607227				11551509	Standard	NM_147199		Approved	MRGX1	uc001mpg.3	Q96LB2	OTTHUMG00000162655	ENST00000302797.3:c.730G>A	11.37:g.18955602C>T	ENSP00000305766:p.Val244Met						p.V244M	NM_147199.3	NP_671732.3	Q96LB2	MRGX1_HUMAN			1	954	-			244					Q4V9L2|Q8TDD8|Q8TDD9	Missense_Mutation	SNP	ENST00000302797.3	37	c.730G>A	CCDS7846.1	.	.	.	.	.	.	.	.	.	.	.	2.926	-0.222167	0.06061	.	.	ENSG00000170255	ENST00000302797	T	0.71817	-0.6	1.85	-3.7	0.04437	GPCR, rhodopsin-like superfamily (1);	10.162800	0.00166	N	0.000000	T	0.48447	0.1500	N	0.08118	0	0.09310	N	1	B	0.24618	0.107	B	0.26969	0.075	T	0.33214	-0.9877	10	0.44086	T	0.13	.	3.831	0.08874	0.2022:0.4826:0.0:0.3152	.	244	Q96LB2	MRGX1_HUMAN	M	244	ENSP00000305766:V244M	ENSP00000305766:V244M	V	-	1	0	MRGPRX1	18912178	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-8.927000	0.00015	-1.362000	0.02166	-1.161000	0.01788	GTG		0.478	MRGPRX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369913.1	NM_147199		11	41	0	0	0	1	0	11	41					T	18955602	C	T	18955602	3	4	434	1	0	0	0	0	1	0	0	0	9766	536	19	1	242	1	MRGPRX1	11	18955602	Missense_Mutation	SNP	C	TCGA-XK-AAIV-01A-11D-A41K-08		18955602	116050914	32	20897											
NUP160	23279	broad.mit.edu	37	chr11	47814391	47814391	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atattctggacgaataagtcGtaaacaattgagagcagcca	16	9	9	7	2	1	1	0	1	1	1	2	4	1	2	1	1	3	2	1	1	6	5	rs373754603		TCGA-XK-AAIV-01A-11D-A41K-08	TCGA-XK-AAIV-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeaabd2b-588d-4ab0-a18d-66fe3cf89520	406a543f-c14a-4f78-bf50-77ea7e9a8ede	g.chr11:47814391G>A	ENST00000378460.2	-	28	3443	c.3397C>T	c.(3397-3399)Cga>Tga	p.R1133*	NUP160_ENST00000528071.1_Nonsense_Mutation_p.R1019*|NUP160_ENST00000530326.1_Nonsense_Mutation_p.R1019*	NM_015231.1	NP_056046.1	Q12769	NU160_HUMAN	nucleoporin 160kDa	1133					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA export from nucleus (GO:0006406)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)|nuclear pore outer ring (GO:0031080)	nucleocytoplasmic transporter activity (GO:0005487)			NS(1)|biliary_tract(2)|breast(7)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(6)|prostate(2)|skin(2)|urinary_tract(2)	53						CGAATAAGTCGTAAACAATTG	0.463																																						ENST00000378460.2																			0				NS(1)|biliary_tract(2)|breast(7)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(6)|prostate(2)|skin(2)|urinary_tract(2)	53						c.(3397-3399)Cga>Tga		nucleoporin 160kDa							163	152	156					11																	47814391		2201	4298	6499	SO:0001587	stop_gained	23279				carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|Nup107-160 complex	nucleocytoplasmic transporter activity|protein binding	g.chr11:47814391G>A	D83781	CCDS31484.1	11p11.12	2008-07-21	2002-08-29		ENSG00000030066	ENSG00000030066			18017	protein-coding gene	gene with protein product		607614	"nucleoporin 160kD"			11684705	Standard	NM_015231		Approved	KIAA0197, FLJ22583	uc001ngm.3	Q12769	OTTHUMG00000166534	ENST00000378460.2:c.3397C>T	11.37:g.47814391G>A	ENSP00000367721:p.Arg1133*					NUP160_ENST00000530326.1_Nonsense_Mutation_p.R1019*|NUP160_ENST00000528071.1_Nonsense_Mutation_p.R1019*	p.R1133*	NM_015231.1	NP_056046.1	Q12769	NU160_HUMAN			28	3443	-			1133					B4DYE8|B4E2J9|Q08AD3|Q7Z5X6|Q96GB3|Q9H660	Nonsense_Mutation	SNP	ENST00000378460.2	37	c.3397C>T	CCDS31484.1	.	.	.	.	.	.	.	.	.	.	G	38	7.139090	0.98088	.	.	ENSG00000030066	ENST00000378460;ENST00000530326;ENST00000528071	.	.	.	5.44	3.53	0.40419	.	0.165318	0.40640	N	0.001052	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.08179	T	0.78	.	14.2025	0.65714	0.0:0.0:0.7129:0.2871	.	.	.	.	X	1133;1019;1019	.	ENSP00000367721:R1133X	R	-	1	2	NUP160	47770967	1.000000	0.71417	0.981000	0.43875	0.958000	0.62258	6.288000	0.72679	0.632000	0.30432	-0.175000	0.13238	CGA		0.463	NUP160-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390239.2	NM_015231		10	103	0	0	0	1	0	10	103					A	47814391	G	A	47814391	4	1	434	1	0	0	0	0	0	1	0	0	10757	1153	40	1	949	1	NUP160	11	47814391	Nonsense_Mutation	SNP	G	TCGA-XK-AAIV-01A-11D-A41K-08	28858789	47814391	87192125	33	20898											
OR5L2	26338	broad.mit.edu	37	chr11	55594849	55594849	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gactgcactgattcaggtcaGctctcggctccacacccccg	7	8	9	17	2	3	1	2	1	1	0	5	2	4	1	3	2	2	3	3	2	0	1			TCGA-XK-AAIV-01A-11D-A41K-08	TCGA-XK-AAIV-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeaabd2b-588d-4ab0-a18d-66fe3cf89520	406a543f-c14a-4f78-bf50-77ea7e9a8ede	g.chr11:55594849G>A	ENST00000378397.1	+	1	155	c.155G>A	c.(154-156)aGc>aAc	p.S52N		NM_001004739.1	NP_001004739.1	Q8NGL0	OR5L2_HUMAN	olfactory receptor, family 5, subfamily L, member 2	52						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|kidney(1)|large_intestine(1)|lung(42)|ovary(1)|prostate(3)|skin(1)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	59		all_epithelial(135;0.208)				ATTCAGGTCAGCTCTCGGCTC	0.483										HNSCC(27;0.073)																												ENST00000378397.1																			0				breast(2)|kidney(1)|large_intestine(1)|lung(42)|ovary(1)|prostate(3)|skin(1)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	59						c.(154-156)aGc>aAc		olfactory receptor, family 5, subfamily L, member 2							297	264	275					11																	55594849		2200	4296	6496	SO:0001583	missense	26338				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55594849G>A	AB065782	CCDS31511.1	11q11	2012-08-09			ENSG00000205030	ENSG00000205030		"GPCR / Class A : Olfactory receptors"	8351	protein-coding gene	gene with protein product						1370859	Standard	NM_001004739		Approved	HTPCRX16, HSHTPCRX16	uc001nhy.1	Q8NGL0	OTTHUMG00000166812	ENST00000378397.1:c.155G>A	11.37:g.55594849G>A	ENSP00000367650:p.Ser52Asn	HNSCC(27;0.073)					p.S52N	NM_001004739.1	NP_001004739.1	Q8NGL0	OR5L2_HUMAN			1	155	+		all_epithelial(135;0.208)	52					Q6IF66|Q96RB2	Missense_Mutation	SNP	ENST00000378397.1	37	c.155G>A	CCDS31511.1	.	.	.	.	.	.	.	.	.	.	.	2.063	-0.414845	0.04766	.	.	ENSG00000205030	ENST00000378397	T	0.01068	5.38	5.31	2.36	0.29203	GPCR, rhodopsin-like superfamily (1);	0.102357	0.43919	D	0.000508	T	0.00637	0.0021	N	0.02708	-0.52	0.09310	N	1	B	0.14012	0.009	B	0.18871	0.023	T	0.48864	-0.8997	10	0.45353	T	0.12	-29.1845	6.0329	0.19690	0.2192:0.1495:0.6313:0.0	.	52	Q8NGL0	OR5L2_HUMAN	N	52	ENSP00000367650:S52N	ENSP00000367650:S52N	S	+	2	0	OR5L2	55351425	0.000000	0.05858	0.554000	0.28268	0.006000	0.05464	0.572000	0.23684	0.748000	0.32831	0.626000	0.83405	AGC		0.483	OR5L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391516.1	NM_001004739		7	185	0	0	0	1	0	7	185					A	55594849	G	A	55594849	3	1	434	1	0	0	0	0	1	0	0	0	11171	971	34	3	157	3	OR5L2	11	55594849	Missense_Mutation	SNP	G	TCGA-XK-AAIV-01A-11D-A41K-08	7780458	55594849	79411667	34	20899											
MPZL2	10205	broad.mit.edu	37	chr11	118133772	118133772	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ccattaacagcctccagcacCcgggaggtataaatttccac	12	8	7	14	1	0	0	0	0	0	0	2	1	2	1	5	2	3	2	5	2	4	4			TCGA-XK-AAIV-01A-11D-A41K-08	TCGA-XK-AAIV-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeaabd2b-588d-4ab0-a18d-66fe3cf89520	406a543f-c14a-4f78-bf50-77ea7e9a8ede	g.chr11:118133772C>A	ENST00000278937.2	-	2	227	c.99G>T	c.(97-99)cgG>cgT	p.R33R	MPZL2_ENST00000438295.2_Silent_p.R33R|MPZL2_ENST00000525647.1_5'UTR	NM_005797.3	NP_005788.1	O60487	MPZL2_HUMAN	myelin protein zero-like 2	33	Ig-like V-type.				anatomical structure morphogenesis (GO:0009653)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)|T cell differentiation in thymus (GO:0033077)	cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(1)|kidney(2)|large_intestine(5)|lung(2)|skin(1)	11	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.04e-05)		CCTCCAGCACCCGGGAGGTAT	0.458																																						ENST00000278937.2																			0				endometrium(1)|kidney(2)|large_intestine(5)|lung(2)|skin(1)	11						c.(97-99)cgG>cgT		myelin protein zero-like 2							145	153	150					11																	118133772		2200	4296	6496	SO:0001819	synonymous_variant	10205				anatomical structure morphogenesis|homophilic cell adhesion	cytoskeleton|integral to membrane		g.chr11:118133772C>A	AF275945	CCDS8393.1	11q24	2013-01-11	2007-08-01	2007-08-01		ENSG00000149573		"Immunoglobulin superfamily / V-set domain containing"	3496	protein-coding gene	gene with protein product		604873	"epithelial V-like antigen 1"	EVA1		9585423	Standard	NM_005797		Approved	EVA	uc001psn.3	O60487		ENST00000278937.2:c.99G>T	11.37:g.118133772C>A						MPZL2_ENST00000525647.1_5'UTR|MPZL2_ENST00000438295.2_Silent_p.R33R	p.R33R	NM_005797.3	NP_005788.1	O60487	MPZL2_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.04e-05)	2	227	-	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)	33			Ig-like V-type.		A8K2R1	Silent	SNP	ENST00000278937.2	37	c.99G>T	CCDS8393.1																																																																																				0.458	MPZL2-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392113.1	NM_005797		10	157	1	0	2.80697e-09	1	3.10468e-09	10	157					A	118133772	C	A	118133772	2	1	434	1	0	0	0	0	0	0	0	1	9750	610	22	5		5	MPZL2	11	118133772	Silent	SNP	C	TCGA-XK-AAIV-01A-11D-A41K-08	62538923	118133772	16872744	35	20900											
OR10G7	390265	broad.mit.edu	37	chr11	123909325	123909325	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atcatgttggtgtacctgagCgggtaactgatggccaggta	9	11	14	7	1	1	2	1	2	0	0	1	2	1	2	2	4	3	4	2	4	3	4			TCGA-XK-AAIV-01A-11D-A41K-08	TCGA-XK-AAIV-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeaabd2b-588d-4ab0-a18d-66fe3cf89520	406a543f-c14a-4f78-bf50-77ea7e9a8ede	g.chr11:123909325C>T	ENST00000330487.5	-	1	392	c.384G>A	c.(382-384)ccG>ccA	p.P128P		NM_001004463.1	NP_001004463.1	Q8NGN6	O10G7_HUMAN	olfactory receptor, family 10, subfamily G, member 7	128						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.P128P(1)		central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(6)|lung(20)|ovary(2)|prostate(2)|stomach(3)|urinary_tract(1)	47		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		TGTACCTGAGCGGGTAACTGA	0.562																																						ENST00000330487.5																			1	Substitution - coding silent(1)	p.P128P(1)	lung(1)	central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(6)|lung(20)|ovary(2)|prostate(2)|stomach(3)|urinary_tract(1)	47						c.(382-384)ccG>ccA		olfactory receptor, family 10, subfamily G, member 7							172	159	163					11																	123909325		2200	4299	6499	SO:0001819	synonymous_variant	390265				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:123909325C>T	AB065754	CCDS31705.1	11q24.1	2012-08-09			ENSG00000182634	ENSG00000182634		"GPCR / Class A : Olfactory receptors"	14842	protein-coding gene	gene with protein product							Standard	NM_001004463		Approved		uc001pzq.1	Q8NGN6	OTTHUMG00000165969	ENST00000330487.5:c.384G>A	11.37:g.123909325C>T							p.P128P	NM_001004463.1	NP_001004463.1	Q8NGN6	O10G7_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)	1	392	-		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	128					Q6IFE8	Silent	SNP	ENST00000330487.5	37	c.384G>A	CCDS31705.1																																																																																				0.562	OR10G7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387271.1	NM_001004463		15	136	0	0	0	1	0	15	136					T	123909325	C	T	123909325	2	4	434	1	0	0	0	0	0	0	0	1	10902	755	27	1		1	OR10G7	11	123909325	Silent	SNP	C	TCGA-XK-AAIV-01A-11D-A41K-08	5775553	123909325	11097191	36	20901											
CD63	967	broad.mit.edu	37	chr12	56121076	56121076	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tggattatggtctgactcagGacaagctgtgccccgacacc	9	9	11	12	1	2	1	1	1	1	0	2	4	2	3	3	3	2	1	3	3	2	1			TCGA-XK-AAIV-01A-11D-A41K-08	TCGA-XK-AAIV-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeaabd2b-588d-4ab0-a18d-66fe3cf89520	406a543f-c14a-4f78-bf50-77ea7e9a8ede	g.chr12:56121076G>A	ENST00000549117.1	-	3	550	c.114C>T	c.(112-114)gtC>gtT	p.V38V	CD63_ENST00000548160.1_5'Flank|CD63_ENST00000257857.4_Silent_p.V38V|CD63_ENST00000550776.1_5'UTR|CD63_ENST00000548898.1_5'Flank|CD63_ENST00000552067.1_5'Flank|CD63_ENST00000420846.3_Silent_p.V38V|CD63_ENST00000552754.1_Intron|CD63_ENST00000552692.1_Silent_p.V38V|RP11-644F5.11_ENST00000552576.1_RNA|CD63_ENST00000546939.1_5'UTR	NM_001257389.1	NP_001244318.1	P08962	CD63_HUMAN	CD63 molecule	38					blood coagulation (GO:0007596)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cellular protein localization (GO:0034613)|endosome to melanosome transport (GO:0035646)|pigment granule maturation (GO:0048757)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of integrin-mediated signaling pathway (GO:2001046)|positive regulation of receptor internalization (GO:0002092)|protein transport (GO:0015031)|regulation of rubidium ion transport (GO:2000680)|regulation of vascular endothelial growth factor signaling pathway (GO:1900746)	cell surface (GO:0009986)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|multivesicular body, internal vesicle (GO:0097487)|plasma membrane (GO:0005886)|platelet dense granule membrane (GO:0031088)				kidney(1)|large_intestine(3)|lung(2)|ovary(1)	7						TCTGACTCAGGACAAGCTGTG	0.567																																					Pancreas(123;1459 1747 6717 18841 37380)	ENST00000549117.1																			0				kidney(1)|large_intestine(3)|lung(2)|ovary(1)	7						c.(112-114)gtC>gtT		CD63 molecule							103	96	98					12																	56121076		2203	4300	6503	SO:0001819	synonymous_variant	0				platelet activation|platelet degranulation	integral to plasma membrane|late endosome membrane|lysosomal membrane|platelet dense granule membrane		g.chr12:56121076G>A	M58485	CCDS8890.1, CCDS58242.1, CCDS58243.1	12q12-q13	2013-02-14	2006-03-28					"CD molecules", "Tetraspanins"	1692	protein-coding gene	gene with protein product		155740	"CD63 antigen (melanoma 1 antigen)"	MLA1			Standard	NM_001780		Approved	ME491, TSPAN30	uc031qhv.1	P08962		ENST00000549117.1:c.114C>T	12.37:g.56121076G>A						CD63_ENST00000546939.1_5'UTR|CD63_ENST00000550776.1_5'UTR|CD63_ENST00000552692.1_Silent_p.V38V|CD63_ENST00000257857.4_Silent_p.V38V|CD63_ENST00000552754.1_Intron|CD63_ENST00000420846.3_Silent_p.V38V	p.V38V	NM_001257389.1	NP_001244318.1	P08962	CD63_HUMAN			3	550	-			38					F8VZE2|Q5TZP3|Q8N6Z9|Q9UCG6	Silent	SNP	ENST00000549117.1	37	c.114C>T	CCDS8890.1																																																																																				0.567	CD63-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000409234.1			10	57	0	0	0	1	0	10	57					A	56121076	G	A	56121076	2	1	434	1	0	0	0	0	0	0	0	1	3029	1161	41	3		3	CD63	12	56121076	Silent	SNP	G	TCGA-XK-AAIV-01A-11D-A41K-08		56121076	77730819	37	20902											
FLT3	2322	broad.mit.edu	37	chr13	28609787	28609787	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	tagcctttctattccagactCcttctgtgatctcttctgtg	5	18	6	12	0	4	2	0	1	4	1	7	2	6	2	3	0	1	0	3	0	2	6			TCGA-XK-AAIV-01A-11D-A41K-08	TCGA-XK-AAIV-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeaabd2b-588d-4ab0-a18d-66fe3cf89520	406a543f-c14a-4f78-bf50-77ea7e9a8ede	g.chr13:28609787C>G	ENST00000241453.7	-	12	1523	c.1442G>C	c.(1441-1443)gGa>gCa	p.G481A	FLT3_ENST00000537084.1_Missense_Mutation_p.G481A|FLT3_ENST00000380982.4_Missense_Mutation_p.G481A	NM_004119.2	NP_004110.2	P36888	FLT3_HUMAN	fms-related tyrosine kinase 3	481					B cell differentiation (GO:0030183)|cellular response to cytokine stimulus (GO:0071345)|common myeloid progenitor cell proliferation (GO:0035726)|cytokine-mediated signaling pathway (GO:0019221)|dendritic cell differentiation (GO:0097028)|hemopoiesis (GO:0030097)|leukocyte homeostasis (GO:0001776)|lymphocyte proliferation (GO:0046651)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of B cell differentiation (GO:0045578)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of tyrosine phosphorylation of STAT protein (GO:0042531)|pro-B cell differentiation (GO:0002328)|pro-T cell differentiation (GO:0002572)|protein autophosphorylation (GO:0046777)|regulation of apoptotic process (GO:0042981)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor signaling pathway (GO:0038084)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|cytokine receptor activity (GO:0004896)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(12329)|kidney(2)|large_intestine(8)|lung(30)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12390	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	Ponatinib(DB08901)|Sorafenib(DB00398)|Sunitinib(DB01268)	ATTCCAGACTCCTTCTGTGAT	0.428			"Mis, O"		"AML, ALL"																																	ENST00000380982.4				Dom	yes		13	13q12	2322	"Mis, O"	fms-related tyrosine kinase 3			L			"AML, ALL"		0				NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(12329)|kidney(2)|large_intestine(8)|lung(30)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12390						c.(1441-1443)gGa>gCa		fms-related tyrosine kinase 3	Sorafenib(DB00398)|Sunitinib(DB01268)						157	137	144					13																	28609787		2203	4300	6503	SO:0001583	missense	2322				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|vascular endothelial growth factor receptor activity	g.chr13:28609787C>G	U02687	CCDS31953.1	13q12	2014-09-17			ENSG00000122025	ENSG00000122025	2.7.10.1	"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	3765	protein-coding gene	gene with protein product		136351				8394751	Standard	NM_004119		Approved	STK1, FLK2, CD135	uc001urw.3	P36888	OTTHUMG00000016646	ENST00000241453.7:c.1442G>C	13.37:g.28609787C>G	ENSP00000241453:p.Gly481Ala					FLT3_ENST00000241453.7_Missense_Mutation_p.G481A|FLT3_ENST00000537084.1_Missense_Mutation_p.G481A	p.G481A			P36888	FLT3_HUMAN	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	12	1523	-	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	481					A0AVG9|B7ZLT7|B7ZLT8|F5H0A0|Q13414	Missense_Mutation	SNP	ENST00000241453.7	37	c.1442G>C	CCDS31953.1	.	.	.	.	.	.	.	.	.	.	C	12.36	1.915344	0.33815	.	.	ENSG00000122025	ENST00000241453;ENST00000380982;ENST00000537084	T;T;T	0.77489	-1.03;-1.1;-0.83	5.13	5.13	0.70059	.	0.086880	0.50627	D	0.000117	T	0.69611	0.3130	N	0.24115	0.695	0.41774	D	0.989783	P;B	0.51537	0.946;0.209	P;B	0.45639	0.488;0.02	T	0.68375	-0.5425	10	0.23891	T	0.37	.	17.1257	0.86713	0.0:1.0:0.0:0.0	.	481;481	P36888-2;P36888	.;FLT3_HUMAN	A	481	ENSP00000241453:G481A;ENSP00000370369:G481A;ENSP00000438139:G481A	ENSP00000241453:G481A	G	-	2	0	FLT3	27507787	0.996000	0.38824	0.954000	0.39281	0.251000	0.25915	3.726000	0.54977	2.552000	0.86080	0.655000	0.94253	GGA		0.428	FLT3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000044319.2			6	51	0	0	0	1	0	6	51					G	28609787	C	G	28609787	3	3	434	1	0	0	0	0	1	0	0	0	5942	855	30	5	1591	5	FLT3	13	28609787	Missense_Mutation	SNP	C	TCGA-XK-AAIV-01A-11D-A41K-08		28609787	86560091	38	20903											
NALCN	259232	broad.mit.edu	37	chr13	102029174	102029174	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cactccatatttgttctcccGatcgcctagagaaacaaaag	13	10	6	12	2	1	1	0	0	1	1	4	3	2	1	3	0	1	1	3	0	5	4			TCGA-XK-AAIV-01A-11D-A41K-08	TCGA-XK-AAIV-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeaabd2b-588d-4ab0-a18d-66fe3cf89520	406a543f-c14a-4f78-bf50-77ea7e9a8ede	g.chr13:102029174G>A	ENST00000251127.6	-	6	602	c.521C>T	c.(520-522)tCg>tTg	p.S174L	NALCN_ENST00000376200.5_Missense_Mutation_p.S174L|NALCN_ENST00000376196.3_Missense_Mutation_p.S174L|NALCN_ENST00000470333.1_5'UTR	NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	174					calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|cell death (GO:0008219)|ion transmembrane transport (GO:0034220)|membrane depolarization during action potential (GO:0086010)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium channel activity (GO:0005272)|voltage-gated calcium channel activity (GO:0005245)	p.S174L(1)		NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					TTGTTCTCCCGATCGCCTAGA	0.313																																						ENST00000251127.6																			1	Substitution - Missense(1)	p.S174L(1)	large_intestine(1)	NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177						c.(520-522)tCg>tTg		sodium leak channel, non-selective							104	116	112					13																	102029174		2202	4300	6502	SO:0001583	missense	259232					integral to membrane	sodium channel activity|voltage-gated ion channel activity	g.chr13:102029174G>A	AY141972	CCDS9498.1	13q32.3	2012-02-21	2007-04-26	2007-04-26	ENSG00000102452	ENSG00000102452		"Ion channels / Sodium leak channels, non-selective"	19082	protein-coding gene	gene with protein product		611549	"voltage gated channel like 1"	VGCNL1		17448995	Standard	XM_006719943		Approved	bA430M15.1, CanIon	uc001vox.1	Q8IZF0	OTTHUMG00000017295	ENST00000251127.6:c.521C>T	13.37:g.102029174G>A	ENSP00000251127:p.Ser174Leu					NALCN_ENST00000376200.5_Missense_Mutation_p.S174L|NALCN_ENST00000376196.3_Missense_Mutation_p.S174L|NALCN_ENST00000470333.1_5'UTR	p.S174L	NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN			6	602	-	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		174					Q6P2S6|Q6ZMI7|Q8IZZ1|Q8TAH1	Missense_Mutation	SNP	ENST00000251127.6	37	c.521C>T	CCDS9498.1	.	.	.	.	.	.	.	.	.	.	G	23.3	4.400129	0.83120	.	.	ENSG00000102452	ENST00000251127;ENST00000376196;ENST00000376200;ENST00000449582	D;D;D	0.98889	-5.21;-5.21;-5.21	4.92	4.92	0.64577	Ion transport (1);	0.066807	0.64402	D	0.000006	D	0.99093	0.9688	M	0.79805	2.47	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.78314	0.975;0.991	D	0.99814	1.1043	10	0.87932	D	0	.	17.7591	0.88459	0.0:0.0:1.0:0.0	.	174;174	F2Z323;Q8IZF0	.;NALCN_HUMAN	L	174	ENSP00000251127:S174L;ENSP00000365367:S174L;ENSP00000365373:S174L	ENSP00000251127:S174L	S	-	2	0	NALCN	100827175	1.000000	0.71417	0.999000	0.59377	0.868000	0.49771	9.460000	0.97641	2.283000	0.76528	0.650000	0.86243	TCG		0.313	NALCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045663.2	NM_052867		33	89	0	0	0	1	0	33	89					A	102029174	G	A	102029174	3	1	434	1	0	0	0	0	1	0	0	0	10148	1059	37	2	4851	2	NALCN	13	102029174	Missense_Mutation	SNP	G	TCGA-XK-AAIV-01A-11D-A41K-08	73419387	102029174	13140704	39	20904											
FLRT2	23768	broad.mit.edu	37	chr14	86088705	86088705	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtaagctggaacggctggatAtatccaacaaccaactgcgg	13	7	11	10	2	0	0	0	0	0	0	1	2	1	2	2	4	6	3	2	4	7	3			TCGA-XK-AAIV-01A-11D-A41K-08	TCGA-XK-AAIV-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeaabd2b-588d-4ab0-a18d-66fe3cf89520	406a543f-c14a-4f78-bf50-77ea7e9a8ede	g.chr14:86088705A>T	ENST00000330753.4	+	2	1614	c.847A>T	c.(847-849)Ata>Tta	p.I283L	FLRT2_ENST00000554746.1_Missense_Mutation_p.I283L	NM_013231.4	NP_037363.1	O43155	FLRT2_HUMAN	fibronectin leucine rich transmembrane protein 2	283					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|intracellular signal transduction (GO:0035556)|regulation of neuron migration (GO:2001222)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|proteinaceous extracellular matrix (GO:0005578)	chemorepellent activity (GO:0045499)|protein binding, bridging (GO:0030674)|receptor signaling protein activity (GO:0005057)			NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	73				BRCA - Breast invasive adenocarcinoma(234;0.0319)		ACGGCTGGATATATCCAACAA	0.478																																						ENST00000330753.4																			0				NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	73						c.(847-849)Ata>Tta		fibronectin leucine rich transmembrane protein 2							163	167	166					14																	86088705		2203	4300	6503	SO:0001583	missense	23768				cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity	g.chr14:86088705A>T	AF169676	CCDS9877.1	14q24-q32	2013-02-11				ENSG00000185070		"Fibronectin type III domain containing"	3761	protein-coding gene	gene with protein product		604807				10644439, 16872596	Standard	XM_005267490		Approved		uc001xvr.3	O43155		ENST00000330753.4:c.847A>T	14.37:g.86088705A>T	ENSP00000332879:p.Ile283Leu					FLRT2_ENST00000554746.1_Missense_Mutation_p.I283L	p.I283L	NM_013231.4	NP_037363.1	O43155	FLRT2_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0319)	2	1614	+			283					A0AV84|B7ZLP3	Missense_Mutation	SNP	ENST00000330753.4	37	c.847A>T	CCDS9877.1	.	.	.	.	.	.	.	.	.	.	A	2.282	-0.364544	0.05103	.	.	ENSG00000185070	ENST00000330753;ENST00000554746	T;T	0.27402	1.67;1.67	5.97	5.97	0.96955	.	0.102856	0.64402	D	0.000003	T	0.07728	0.0194	N	0.00155	-1.965	0.54753	D	0.999982	B	0.18013	0.025	B	0.20577	0.03	T	0.41484	-0.9506	10	0.02654	T	1	-14.7206	16.4473	0.83942	1.0:0.0:0.0:0.0	.	283	O43155	FLRT2_HUMAN	L	283	ENSP00000332879:I283L;ENSP00000451050:I283L	ENSP00000332879:I283L	I	+	1	0	FLRT2	85158458	1.000000	0.71417	0.995000	0.50966	0.997000	0.91878	4.158000	0.58150	2.281000	0.76405	0.533000	0.62120	ATA		0.478	FLRT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413193.1			4	202	0	0	0	1	0	4	202					T	86088705	A	T	86088705	3	4	434	1	0	0	0	0	1	0	0	0	5939	449	16	5	849	5	FLRT2	14	86088705	Missense_Mutation	SNP	A	TCGA-XK-AAIV-01A-11D-A41K-08		86088705	21260835	40	20905											
AQR	9716	broad.mit.edu	37	chr15	35202391	35202400	+	Frame_Shift_Del	DEL	ACGAACTCGG	ACGAACTCGG	-																															agatttatggtaacatctgcAcgaactcgggttggccagtt																										TCGA-XK-AAIV-01A-11D-A41K-08	TCGA-XK-AAIV-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeaabd2b-588d-4ab0-a18d-66fe3cf89520	406a543f-c14a-4f78-bf50-77ea7e9a8ede	g.chr15:35202391_35202400delACGAACTCGG	ENST00000156471.5	-	17	1824_1833	c.1599_1608delCCGAGTTCGT	c.(1597-1608)acccgagttcgtfs	p.TRVR533fs		NM_014691.2	NP_055506.1	O60306	AQR_HUMAN	aquarius intron-binding spliceosomal factor	533					mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(10)|lung(18)|ovary(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	57		Lung NSC(122;8.7e-10)|all_lung(180;1.47e-08)		all cancers(64;4.34e-18)|GBM - Glioblastoma multiforme(113;4.59e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0283)		TAACATCTGCACGAACTCGGGTTGGCCAGT	0.452																																						ENST00000156471.5																			0				breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(10)|lung(18)|ovary(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	57						c.(1597-1608)acfs		aquarius intron-binding spliceosomal factor																																				SO:0001589	frameshift_variant	9716					catalytic step 2 spliceosome	RNA binding	g.chr15:35202391_35202400delACGAACTCGG	AB011132	CCDS42013.1	15q13	2013-09-12	2013-09-12			ENSG00000021776			29513	protein-coding gene	gene with protein product	"functional spliceosome-associated protein 164"	610548	"aquarius homolog (mouse)"			9626505, 16949364	Standard	NM_014691		Approved	KIAA0560, fSAP164, IBP160	uc001ziv.3	O60306		ENST00000156471.5:c.1599_1608delCCGAGTTCGT	15.37:g.35202391_35202400delACGAACTCGG	ENSP00000156471:p.Thr533fs						p.TRVR533fs	NM_014691.2	NP_055506.1	O60306	AQR_HUMAN		all cancers(64;4.34e-18)|GBM - Glioblastoma multiforme(113;4.59e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0283)	17	1824_1833	-		Lung NSC(122;8.7e-10)|all_lung(180;1.47e-08)	533					A0JP17|A5YKK3|Q2YDX9|Q6IRU8|Q6PIC8	Frame_Shift_Del	DEL	ENST00000156471.5	37	c.1599_1608delCCGAGTTCGT	CCDS42013.1																																																																																				0.452	AQR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417526.2	NM_014691		7	124						7	124	---	---	---	---	-	35202400	ACGAACTCGG	-	35202391	7	5	434	1	0	1	0	1	0	0	0	0	835	146	6	0	2925	0	AQR	15	35202391	Frame_Shift_Del	DEL	ACGAACTCGG	TCGA-XK-AAIV-01A-11D-A41K-08		35202391	67329001	41	20906											
INO80	54617	broad.mit.edu	37	chr15	41313214	41313214	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ctgcagccagttcaggggccCcattcaacaaacactgcttg	10	8	9	14	0	2	0	2	0	0	0	2	0	2	0	3	2	5	3	3	2	2	3			TCGA-XK-AAIV-01A-11D-A41K-08	TCGA-XK-AAIV-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeaabd2b-588d-4ab0-a18d-66fe3cf89520	406a543f-c14a-4f78-bf50-77ea7e9a8ede	g.chr15:41313214C>A	ENST00000361937.3	-	26	3582	c.3158G>T	c.(3157-3159)gGg>gTg	p.G1053V	INO80_ENST00000401393.3_Missense_Mutation_p.G1053V|RP11-540O11.4_ENST00000558967.1_RNA			Q9ULG1	INO80_HUMAN	INO80 complex subunit	1053	Assembles INO80 complex module consisting of conserved components INO80B, INO80C, ACTR5, RVBL1, RVBL2.				ATP catabolic process (GO:0006200)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|chromatin remodeling (GO:0006338)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|mitotic sister chromatid segregation (GO:0000070)|positive regulation of cell growth (GO:0030307)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of G1/S transition of mitotic cell cycle (GO:2000045)|spindle assembly (GO:0051225)|UV-damage excision repair (GO:0070914)	Ino80 complex (GO:0031011)|microtubule (GO:0005874)|nucleus (GO:0005634)	alpha-tubulin binding (GO:0043014)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)			NS(1)|breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						TTCAGGGGCCCCATTCAACAA	0.522																																						ENST00000361937.3																			0				NS(1)|breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						c.(3157-3159)gGg>gTg		INO80 complex subunit							83	76	79					15																	41313214		2203	4300	6503	SO:0001583	missense	54617				cell division|cellular response to ionizing radiation|cellular response to UV|chromatin remodeling|double-strand break repair via homologous recombination|mitotic sister chromatid segregation|positive regulation of cell growth|positive regulation of DNA replication involved in S phase|positive regulation of transcription from RNA polymerase II promoter|regulation of G1/S transition of mitotic cell cycle|spindle assembly|UV-damage excision repair	Ino80 complex|microtubule	actin binding|alpha-tubulin binding|ATP binding|ATPase activity|DNA binding|DNA helicase activity	g.chr15:41313214C>A	AB033085	CCDS10071.1	15q15.1	2013-08-21	2013-08-21	2008-08-07	ENSG00000128908	ENSG00000128908	3.6.1.3	"INO80 complex subunits"	26956	protein-coding gene	gene with protein product	"INO80 complex subunit A"	610169	"INO80 complex homolog 1 (S. cerevisiae)", "INO80 homolog (S. cerevisiae)"	INOC1		16298340, 16230350, 20237820	Standard	NM_017553		Approved	KIAA1259, Ino80, hINO80, INO80A	uc001zni.3	Q9ULG1	OTTHUMG00000130209	ENST00000361937.3:c.3158G>T	15.37:g.41313214C>A	ENSP00000355205:p.Gly1053Val					INO80_ENST00000401393.3_Missense_Mutation_p.G1053V|RP11-540O11.4_ENST00000558967.1_RNA	p.G1053V			Q9ULG1	INO80_HUMAN			26	3582	-			1053			Assembles INO80 complex module consisting of conserved components INO80B, INO80C, ACTR5, RVBL1, RVBL2.		A6H8X4|Q9NTG6	Missense_Mutation	SNP	ENST00000361937.3	37	c.3158G>T	CCDS10071.1	.	.	.	.	.	.	.	.	.	.	C	28.3	4.905915	0.92107	.	.	ENSG00000128908	ENST00000361937;ENST00000401393	D;D	0.91945	-2.94;-2.94	5.25	5.25	0.73442	.	0.000000	0.85682	D	0.000000	D	0.91479	0.7310	N	0.11131	0.1	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.90208	0.4262	10	0.23891	T	0.37	.	19.0427	0.93008	0.0:1.0:0.0:0.0	.	1053	Q9ULG1	INO80_HUMAN	V	1053	ENSP00000355205:G1053V;ENSP00000384686:G1053V	ENSP00000355205:G1053V	G	-	2	0	INO80	39100506	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.856000	0.75450	2.722000	0.93159	0.655000	0.94253	GGG		0.522	INO80-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252527.2	NM_017553		3	46	1	0	0.115264	1	0.115264	3	46					A	41313214	C	A	41313214	3	1	434	1	0	0	0	0	1	0	0	0	7746	623	22	5	1556	5	INO80	15	41313214	Missense_Mutation	SNP	C	TCGA-XK-AAIV-01A-11D-A41K-08	6110823	41313214	61218178	42	20907											
RTF1	23168	broad.mit.edu	37	chr15	41766891	41766891	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caccagaacaaacaaagggcTgcaactacggtaggaggcac	16	3	11	11	1	0	1	0	0	0	1	0	2	0	2	1	4	5	4	1	4	6	2			TCGA-XK-AAIV-01A-11D-A41K-08	TCGA-XK-AAIV-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeaabd2b-588d-4ab0-a18d-66fe3cf89520	406a543f-c14a-4f78-bf50-77ea7e9a8ede	g.chr15:41766891T>A	ENST00000389629.4	+	9	1289	c.1277T>A	c.(1276-1278)cTg>cAg	p.L426Q		NM_015138.4	NP_055953.3	Q92541	RTF1_HUMAN	Rtf1, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae)	426	Plus3. {ECO:0000255|PROSITE- ProRule:PRU00693}.				DNA-templated transcription, initiation (GO:0006352)|endodermal cell fate commitment (GO:0001711)|histone H3-K4 trimethylation (GO:0080182)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|stem cell maintenance (GO:0019827)|Wnt signaling pathway (GO:0016055)	Cdc73/Paf1 complex (GO:0016593)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|single-stranded DNA binding (GO:0003697)			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1)	18		all_cancers(109;1.79e-19)|all_epithelial(112;8.18e-17)|Lung NSC(122;3.16e-11)|all_lung(180;8.14e-10)|Melanoma(134;0.0179)|Colorectal(260;0.0946)|Ovarian(310;0.143)		OV - Ovarian serous cystadenocarcinoma(18;1.15e-16)|GBM - Glioblastoma multiforme(113;1.81e-06)|BRCA - Breast invasive adenocarcinoma(123;0.119)		AACAAAGGGCTGCAACTACGG	0.517																																						ENST00000389629.4																			0				central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1)	18						c.(1276-1278)cTg>cAg		Rtf1, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae)							151	148	149					15																	41766891		2203	4300	6503	SO:0001583	missense	23168				histone modification|regulation of transcription, DNA-dependent|transcription initiation, DNA-dependent	nucleoplasm	protein binding|single-stranded DNA binding	g.chr15:41766891T>A	D87440	CCDS32200.2	15q14	2004-03-03	2005-07-20	2005-07-20	ENSG00000137815	ENSG00000137815			28996	protein-coding gene	gene with protein product		611633	"KIAA0252"	KIAA0252		15632063	Standard	NM_015138		Approved		uc001zny.3	Q92541	OTTHUMG00000133744	ENST00000389629.4:c.1277T>A	15.37:g.41766891T>A	ENSP00000374280:p.Leu426Gln						p.L426Q	NM_015138.4	NP_055953.3	Q92541	RTF1_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;1.15e-16)|GBM - Glioblastoma multiforme(113;1.81e-06)|BRCA - Breast invasive adenocarcinoma(123;0.119)	9	1289	+		all_cancers(109;1.79e-19)|all_epithelial(112;8.18e-17)|Lung NSC(122;3.16e-11)|all_lung(180;8.14e-10)|Melanoma(134;0.0179)|Colorectal(260;0.0946)|Ovarian(310;0.143)	426			Plus3.		Q96BX6	Missense_Mutation	SNP	ENST00000389629.4	37	c.1277T>A	CCDS32200.2	.	.	.	.	.	.	.	.	.	.	T	25.9	4.687974	0.88639	.	.	ENSG00000137815	ENST00000389629	.	.	.	5.6	5.6	0.85130	Plus-3 domain, subgroup (1);Plus-3 (2);	0.000000	0.85682	D	0.000000	D	0.86280	0.5895	M	0.93808	3.46	0.80722	D	1	D	0.65815	0.995	D	0.81914	0.995	D	0.89940	0.4072	9	0.87932	D	0	-6.8681	15.7961	0.78412	0.0:0.0:0.0:1.0	.	426	Q92541	RTF1_HUMAN	Q	426	.	ENSP00000374280:L426Q	L	+	2	0	RTF1	39554183	1.000000	0.71417	0.987000	0.45799	0.956000	0.61745	7.698000	0.84413	2.131000	0.65755	0.533000	0.62120	CTG		0.517	RTF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258111.1	NM_015138		21	74	0	0	0	1	0	21	74					A	41766891	T	A	41766891	3	1	434	1	0	0	0	0	1	0	0	0	13721	1580	55	5	1311	5	RTF1	15	41766891	Missense_Mutation	SNP	T	TCGA-XK-AAIV-01A-11D-A41K-08	453677	41766891	60764501	43	20908											
PLA2G4D	283748	broad.mit.edu	37	chr15	42363734	42363734	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccagcaggttcagggagaaaAtgttgctccagatggctgag	11	8	14	8	0	1	3	1	1	0	2	2	4	2	3	2	3	2	5	2	3	2	2			TCGA-XK-AAIV-01A-11D-A41K-08	TCGA-XK-AAIV-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeaabd2b-588d-4ab0-a18d-66fe3cf89520	406a543f-c14a-4f78-bf50-77ea7e9a8ede	g.chr15:42363734A>G	ENST00000290472.3	-	16	1683	c.1589T>C	c.(1588-1590)aTt>aCt	p.I530T		NM_178034.3	NP_828848.3	Q86XP0	PA24D_HUMAN	phospholipase A2, group IVD (cytosolic)	530	PLA2c. {ECO:0000255|PROSITE- ProRule:PRU00555}.				glycerophospholipid biosynthetic process (GO:0046474)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid catabolic process (GO:0009395)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|membrane (GO:0016020)	metal ion binding (GO:0046872)|phospholipase A2 activity (GO:0004623)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(7)|ovary(1)|skin(2)|stomach(1)	27		all_cancers(109;6.37e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.019)|Ovarian(310;0.143)|Colorectal(260;0.245)		OV - Ovarian serous cystadenocarcinoma(18;4.9e-17)|GBM - Glioblastoma multiforme(94;1.02e-06)		CAGGGAGAAAATGTTGCTCCA	0.567																																						ENST00000290472.3																			0				NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(7)|ovary(1)|skin(2)|stomach(1)	27						c.(1588-1590)aTt>aCt		phospholipase A2, group IVD (cytosolic)							81	71	75					15																	42363734		2203	4299	6502	SO:0001583	missense	283748				phospholipid catabolic process	cytoplasmic vesicle membrane|cytosol	metal ion binding|phospholipase A2 activity	g.chr15:42363734A>G	AB090876	CCDS32203.1	15q14	2008-09-19				ENSG00000159337	3.1.1.4		30038	protein-coding gene	gene with protein product		612864				14709560	Standard	NM_178034		Approved	cPLA2delta	uc001zox.3	Q86XP0		ENST00000290472.3:c.1589T>C	15.37:g.42363734A>G	ENSP00000290472:p.Ile530Thr						p.I530T	NM_178034.3	NP_828848.3	Q86XP0	PA24D_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;4.9e-17)|GBM - Glioblastoma multiforme(94;1.02e-06)	16	1683	-		all_cancers(109;6.37e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.019)|Ovarian(310;0.143)|Colorectal(260;0.245)	530			PLA2c.		Q8N176	Missense_Mutation	SNP	ENST00000290472.3	37	c.1589T>C	CCDS32203.1	.	.	.	.	.	.	.	.	.	.	A	20.0	3.931406	0.73442	.	.	ENSG00000159337	ENST00000290472	T	0.04603	3.59	4.79	4.79	0.61399	Acyl transferase/acyl hydrolase/lysophospholipase (1);Lysophospholipase, catalytic domain (2);	0.449602	0.20923	N	0.083250	T	0.10208	0.0250	M	0.73962	2.25	0.25045	N	0.991177	B	0.21905	0.062	B	0.30716	0.119	T	0.07009	-1.0795	10	0.39692	T	0.17	-2.0292	13.3289	0.60475	1.0:0.0:0.0:0.0	.	530	Q86XP0	PA24D_HUMAN	T	530	ENSP00000290472:I530T	ENSP00000290472:I530T	I	-	2	0	PLA2G4D	40151026	1.000000	0.71417	0.998000	0.56505	0.905000	0.53344	6.614000	0.74197	1.798000	0.52647	0.459000	0.35465	ATT		0.567	PLA2G4D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419317.1	NM_178034		5	40	0	0	0	1	0	5	40					G	42363734	A	G	42363734	3	3	434	1	0	0	0	0	1	0	0	0	12004	101	4	4	887	4	PLA2G4D	15	42363734	Missense_Mutation	SNP	A	TCGA-XK-AAIV-01A-11D-A41K-08	596843	42363734	60167658	44	20909											
NUDT7	283927	broad.mit.edu	37	chr16	77769767	77769767	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tttgcttccctggaggtaagCgtgaccctacagacatggat	9	11	11	10	1	0	2	0	1	0	1	1	4	1	4	2	3	3	2	2	3	2	4			TCGA-XK-AAIV-01A-11D-A41K-08	TCGA-XK-AAIV-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeaabd2b-588d-4ab0-a18d-66fe3cf89520	406a543f-c14a-4f78-bf50-77ea7e9a8ede	g.chr16:77769767C>T	ENST00000268533.5	+	3	301	c.232C>T	c.(232-234)Cgt>Tgt	p.R78C	NUDT7_ENST00000568787.1_Missense_Mutation_p.R78C|NUDT7_ENST00000564085.1_Missense_Mutation_p.R78C|NUDT7_ENST00000437314.3_Intron|NUDT7_ENST00000563839.1_Intron	NM_001105663.2	NP_001099133.1	P0C024	NUDT7_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 7	78	Nudix hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00794}.				acetyl-CoA catabolic process (GO:0046356)|brown fat cell differentiation (GO:0050873)|coenzyme A catabolic process (GO:0015938)|nucleoside diphosphate metabolic process (GO:0009132)	peroxisome (GO:0005777)	acetyl-CoA hydrolase activity (GO:0003986)|hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides (GO:0016818)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|receptor binding (GO:0005102)|snoRNA binding (GO:0030515)	p.R78C(1)		breast(1)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|skin(1)	18						TGGAGGTAAGCGTGACCCTAC	0.517																																						ENST00000268533.5																			1	Substitution - Missense(1)	p.R78C(1)	large_intestine(1)	breast(1)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|skin(1)	18						c.(232-234)Cgt>Tgt		nudix (nucleoside diphosphate linked moiety X)-type motif 7							151	152	152					16																	77769767		1966	4158	6124	SO:0001583	missense	283927				nucleoside diphosphate metabolic process	peroxisome	hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides|magnesium ion binding|manganese ion binding	g.chr16:77769767C>T	AA227330	CCDS42195.1, CCDS58480.1, CCDS58479.1, CCDS73916.1	16q23.1	2007-06-15				ENSG00000140876		"Nudix motif containing"	8054	protein-coding gene	gene with protein product		609231				11415433	Standard	NM_001105663		Approved		uc010chd.3	P0C024		ENST00000268533.5:c.232C>T	16.37:g.77769767C>T	ENSP00000268533:p.Arg78Cys					NUDT7_ENST00000568787.1_Missense_Mutation_p.R78C|NUDT7_ENST00000563839.1_Intron|NUDT7_ENST00000564085.1_Missense_Mutation_p.R78C|NUDT7_ENST00000437314.3_Intron	p.R78C	NM_001105663.2	NP_001099133.1	P0C024	NUDT7_HUMAN			3	301	+			78			Nudix hydrolase.		B4DLE5|H3BUB8	Missense_Mutation	SNP	ENST00000268533.5	37	c.232C>T	CCDS42195.1	.	.	.	.	.	.	.	.	.	.	C	6.320	0.427109	0.11987	.	.	ENSG00000140876	ENST00000268533	T	0.08102	3.13	5.63	-8.6	0.00889	NUDIX hydrolase domain (3);NUDIX hydrolase domain-like (1);	1.322150	0.04715	N	0.418236	T	0.06096	0.0158	L	0.31157	0.91	0.09310	N	1	B	0.22604	0.072	B	0.17098	0.017	T	0.36504	-0.9745	10	0.37606	T	0.19	11.9847	11.168	0.48554	0.2835:0.5897:0.0:0.1268	.	78	P0C024	NUDT7_HUMAN	C	78	ENSP00000268533:R78C	ENSP00000268533:R78C	R	+	1	0	NUDT7	76327268	0.000000	0.05858	0.000000	0.03702	0.041000	0.13682	-1.014000	0.03641	-1.158000	0.02811	-0.225000	0.12378	CGT		0.517	NUDT7-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433873.1			12	110	0	0	0	1	0	12	110					T	77769767	C	T	77769767	3	4	434	1	0	0	0	0	1	0	0	0	10744	768	27	1	242	1	NUDT7	16	77769767	Missense_Mutation	SNP	C	TCGA-XK-AAIV-01A-11D-A41K-08		77769767	12584986	45	20910											
ALOX15	246	broad.mit.edu	37	chr17	4535298	4535298	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttgcatccttggtggttggCgggggcagccgcatcgtgca	4	10	17	10	3	0	0	0	0	0	0	2	0	1	0	2	5	3	6	2	5	0	3	rs147458306	byFrequency	TCGA-XK-AAIV-01A-11D-A41K-08	TCGA-XK-AAIV-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeaabd2b-588d-4ab0-a18d-66fe3cf89520	406a543f-c14a-4f78-bf50-77ea7e9a8ede	g.chr17:4535298C>T	ENST00000570836.1	-	14	1791	c.1695G>A	c.(1693-1695)ccG>ccA	p.P565P	ALOX15_ENST00000574640.1_Silent_p.P526P|ALOX15_ENST00000545513.1_Silent_p.P587P|ALOX15_ENST00000293761.3_Silent_p.P565P			P16050	LOX15_HUMAN	arachidonate 15-lipoxygenase	565	Lipoxygenase. {ECO:0000255|PROSITE- ProRule:PRU00726}.				apoptotic cell clearance (GO:0043277)|arachidonic acid metabolic process (GO:0019369)|bone mineralization (GO:0030282)|cellular response to calcium ion (GO:0071277)|cellular response to interleukin-13 (GO:0035963)|hepoxilin biosynthetic process (GO:0051122)|inflammatory response (GO:0006954)|leukotriene metabolic process (GO:0006691)|lipoxin A4 biosynthetic process (GO:2001303)|lipoxygenase pathway (GO:0019372)|negative regulation of adaptive immune response (GO:0002820)|ossification (GO:0001503)|phosphatidylethanolamine biosynthetic process (GO:0006646)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|regulation of engulfment of apoptotic cell (GO:1901074)|regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035358)|response to endoplasmic reticulum stress (GO:0034976)|small molecule metabolic process (GO:0044281)|wound healing (GO:0042060)	cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|lipid particle (GO:0005811)|membrane (GO:0016020)|plasma membrane (GO:0005886)	arachidonate 12-lipoxygenase activity (GO:0004052)|arachidonate 15-lipoxygenase activity (GO:0050473)|eoxin A4 synthase activity (GO:0097260)|iron ion binding (GO:0005506)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(5)	20				READ - Rectum adenocarcinoma(115;0.0327)		TGGTGGTTGGCGGGGGCAGCC	0.602													C|||	17	0.00339457	0.0129	0	5008	,	,		20423	0		0	False		,,,				2504	0					ENST00000570836.1																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(5)	20						c.(1693-1695)ccG>ccA		arachidonate 15-lipoxygenase	Ciclopirox(DB01188)|Masoprocol(DB00179)|Zileuton(DB00744)	C		27,4379	34.3+/-65.2	0,27,2176	61	57	58		1695	-6.1	0.2	17	dbSNP_134	58	0,8600		0,0,4300	no	coding-synonymous	ALOX15	NM_001140.3		0,27,6476	TT,TC,CC		0.0,0.6128,0.2076		565/663	4535298	27,12979	2203	4300	6503	SO:0001819	synonymous_variant	246				inflammatory response|leukotriene biosynthetic process	nucleus	arachidonate 15-lipoxygenase activity|iron ion binding|lipoxygenase activity	g.chr17:4535298C>T	M23892	CCDS11049.1	17p13.3	2010-09-24			ENSG00000161905	ENSG00000161905	1.13.11.33	"Arachidonate lipoxygenases"	433	protein-coding gene	gene with protein product		152392				1570320	Standard	NM_001140		Approved	15-LOX-1	uc002fyh.3	P16050	OTTHUMG00000090746	ENST00000570836.1:c.1695G>A	17.37:g.4535298C>T						ALOX15_ENST00000545513.1_Silent_p.P587P|ALOX15_ENST00000574640.1_Silent_p.P526P|ALOX15_ENST00000293761.3_Silent_p.P565P	p.P565P			P16050	LOX15_HUMAN		READ - Rectum adenocarcinoma(115;0.0327)	14	1791	-			565			Lipoxygenase.		A8K2P4|B7ZA11|Q8N6R7|Q99657	Silent	SNP	ENST00000570836.1	37	c.1695G>A	CCDS11049.1																																																																																				0.602	ALOX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207487.2			3	36	0	0	0	1	0	3	36					T	4535298	C	T	4535298	2	4	434	1	0	0	0	0	0	0	0	1	538	755	27	1		1	ALOX15	17	4535298	Silent	SNP	C	TCGA-XK-AAIV-01A-11D-A41K-08		4535298	76659912	46	20911											
DNAH9	1770	broad.mit.edu	37	chr17	11572755	11572755	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atggagagagtccagagaatGatgggcctctgctgtggcta	10	9	15	7	0	1	3	0	1	1	2	2	6	2	4	2	3	1	2	2	3	2	1			TCGA-XK-AAIV-01A-11D-A41K-08	TCGA-XK-AAIV-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeaabd2b-588d-4ab0-a18d-66fe3cf89520	406a543f-c14a-4f78-bf50-77ea7e9a8ede	g.chr17:11572755G>A	ENST00000262442.4	+	17	3065	c.2997G>A	c.(2995-2997)atG>atA	p.M999I	DNAH9_ENST00000454412.2_Missense_Mutation_p.M999I	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	999	Stem. {ECO:0000250}.				cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		TCCAGAGAATGATGGGCCTCT	0.562																																						ENST00000262442.3																			0				NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290						c.(2995-2997)atG>atA		dynein, axonemal, heavy chain 9							68	63	65					17																	11572755		2203	4300	6503	SO:0001583	missense	1770				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:11572755G>A	U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"Axonemal dyneins"	2953	protein-coding gene	gene with protein product		603330	"dynein, axonemal, heavy polypeptide 17-like", "dynein, axonemal, heavy polypeptide 9"	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.2997G>A	17.37:g.11572755G>A	ENSP00000262442:p.Met999Ile					DNAH9_ENST00000454412.2_Missense_Mutation_p.M999I	p.M999I	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)	17	3065	+		Breast(5;0.0122)|all_epithelial(5;0.131)	999			Stem (By similarity).		A2VCQ8|O15064|O95494|Q9NQ28	Missense_Mutation	SNP	ENST00000262442.4	37	c.2997G>A	CCDS11160.1	.	.	.	.	.	.	.	.	.	.	G	5.461	0.270078	0.10349	.	.	ENSG00000007174	ENST00000262442;ENST00000454412	T;T	0.24538	1.89;1.85	4.8	2.82	0.32997	.	0.624529	0.17100	N	0.187050	T	0.11495	0.0280	N	0.11064	0.09	0.58432	D	0.999999	B	0.02656	0.0	B	0.06405	0.002	T	0.11817	-1.0572	10	0.11485	T	0.65	.	8.3176	0.32111	0.2408:0.0:0.7592:0.0	.	999	Q9NYC9	DYH9_HUMAN	I	999	ENSP00000262442:M999I;ENSP00000414874:M999I	ENSP00000262442:M999I	M	+	3	0	DNAH9	11513480	0.977000	0.34250	0.826000	0.32828	0.026000	0.11368	1.598000	0.36740	0.624000	0.30286	0.655000	0.94253	ATG		0.562	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2	NM_001372		8	32	0	0	0	1	0	8	32					A	11572755	G	A	11572755	3	1	434	1	0	0	0	0	1	0	0	0	4608	1290	45	3	3063	3	DNAH9	17	11572755	Missense_Mutation	SNP	G	TCGA-XK-AAIV-01A-11D-A41K-08	7037457	11572755	69622455	47	20912											
KRT25	147183	broad.mit.edu	37	chr17	38911108	38911108	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcttacctgatttttaaggTcatcaattattgggaaatat	12	18	6	5	0	3	1	2	1	1	0	3	2	3	2	1	2	1	0	1	2	6	8	rs572266841	byFrequency	TCGA-XK-AAIV-01A-11D-A41K-08	TCGA-XK-AAIV-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeaabd2b-588d-4ab0-a18d-66fe3cf89520	406a543f-c14a-4f78-bf50-77ea7e9a8ede	g.chr17:38911108T>C	ENST00000312150.4	-	1	476	c.416A>G	c.(415-417)gAc>gGc	p.D139G		NM_181534.3	NP_853512.1			keratin 25											endometrium(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(4)	16		Breast(137;0.00526)				ATTTTTAAGGTCATCAATTAT	0.343																																						ENST00000312150.4																			0				endometrium(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(4)	16						c.(415-417)gAc>gGc		keratin 25							75	75	75					17																	38911108		2203	4300	6503	SO:0001583	missense	147183					cytoplasm|intermediate filament	structural molecule activity	g.chr17:38911108T>C	AK129503	CCDS11373.1	17q21.2	2013-01-16	2006-07-17	2006-07-17	ENSG00000204897	ENSG00000204897		"-", "Intermediate filaments type I, keratins (acidic)"	30839	protein-coding gene	gene with protein product			"keratin 25A"	KRT25A		16831889	Standard	NM_181534		Approved		uc002hve.3	Q7Z3Z0	OTTHUMG00000133373	ENST00000312150.4:c.416A>G	17.37:g.38911108T>C	ENSP00000310573:p.Asp139Gly						p.D139G	NM_181534.3	NP_853512.1	Q7Z3Z0	K1C25_HUMAN			1	476	-		Breast(137;0.00526)	139			Coil 1B.|Rod.			Missense_Mutation	SNP	ENST00000312150.4	37	c.416A>G	CCDS11373.1	.	.	.	.	.	.	.	.	.	.	T	14.21	2.467326	0.43839	.	.	ENSG00000204897	ENST00000394042;ENST00000312150	D	0.89810	-2.57	5.91	5.91	0.95273	Filament (1);	0.000000	0.64402	D	0.000002	D	0.92341	0.7570	M	0.83384	2.64	0.47441	D	0.999422	B	0.29590	0.25	B	0.41202	0.35	D	0.91893	0.5525	10	0.87932	D	0	.	16.3421	0.83085	0.0:0.0:0.0:1.0	.	139	Q7Z3Z0	K1C25_HUMAN	G	139	ENSP00000310573:D139G	ENSP00000310573:D139G	D	-	2	0	KRT25	36164634	0.998000	0.40836	0.977000	0.42913	0.417000	0.31264	4.587000	0.60991	2.261000	0.74972	0.533000	0.62120	GAC		0.343	KRT25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257218.1	NM_181534		12	45	0	0	0	1	0	12	45					C	38911108	T	C	38911108	3	2	434	1	0	0	0	0	1	0	0	0	8462	1667	58	4	968	4	KRT25	17	38911108	Missense_Mutation	SNP	T	TCGA-XK-AAIV-01A-11D-A41K-08	27338353	38911108	42284102	48	20913											
KIF18B	146909	broad.mit.edu	37	chr17	43006319	43006319	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctcaaactctgtgatcatgtCgggcgtcaggaggttggctg	7	11	14	9	2	4	1	3	1	1	0	5	2	4	2	0	4	1	2	0	4	1	1			TCGA-XK-AAIV-01A-11D-A41K-08	TCGA-XK-AAIV-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeaabd2b-588d-4ab0-a18d-66fe3cf89520	406a543f-c14a-4f78-bf50-77ea7e9a8ede	g.chr17:43006319C>T	ENST00000593135.1	-	12	1688	c.1591G>A	c.(1591-1593)Gac>Aac	p.D531N	KIF18B_ENST00000339151.4_Missense_Mutation_p.D543N|KIF18B_ENST00000590129.1_Missense_Mutation_p.D552N|KIF18B_ENST00000438933.2_Missense_Mutation_p.D543N|KIF18B_ENST00000587309.1_Missense_Mutation_p.D543N	NM_001265577.1	NP_001252506.1	Q86Y91	KI18B_HUMAN	kinesin family member 18B	552					ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid segregation (GO:0000070)|regulation of cell division (GO:0051302)	astral microtubule (GO:0000235)|cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule plus-end (GO:0035371)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|kinesin binding (GO:0019894)|motor activity (GO:0003774)|plus-end-directed microtubule motor activity (GO:0008574)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)	21		Prostate(33;0.155)				GTGATCATGTCGGGCGTCAGG	0.592																																						ENST00000587309.1																			0				breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)	21						c.(1627-1629)Gac>Aac		kinesin family member 18B							70	69	69					17																	43006319		2012	4179	6191	SO:0001583	missense	146909							g.chr17:43006319C>T		CCDS45709.1, CCDS58555.1, CCDS45709.2	17q21.31	2014-09-04			ENSG00000186185			"Kinesins"	27102	protein-coding gene	gene with protein product		614570				16084724	Standard	NM_001264573		Approved		uc010wjh.3	Q86Y91	OTTHUMG00000179867	ENST00000593135.1:c.1591G>A	17.37:g.43006319C>T	ENSP00000465992:p.Asp531Asn					KIF18B_ENST00000438933.2_Missense_Mutation_p.D543N|KIF18B_ENST00000339151.4_Missense_Mutation_p.D543N|KIF18B_ENST00000590129.1_Missense_Mutation_p.D552N|KIF18B_ENST00000593135.1_Missense_Mutation_p.D531N	p.D543N	NM_001264573.1	NP_001251503.1					12	1650	-		Prostate(33;0.155)						A6NJI2|B7ZM49|B9EGM8|D5L6I1	Missense_Mutation	SNP	ENST00000593135.1	37	c.1627G>A	CCDS45709.2	.	.	.	.	.	.	.	.	.	.	C	24.5	4.538911	0.85917	.	.	ENSG00000186185	ENST00000438933;ENST00000339151;ENST00000376982	T;T	0.61859	0.07;0.07	5.17	5.17	0.71159	.	.	.	.	.	T	0.75206	0.3818	M	0.72118	2.19	0.38394	D	0.945483	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.996;0.998;0.998	T	0.78409	-0.2215	9	0.59425	D	0.04	.	16.63	0.85031	0.0:1.0:0.0:0.0	.	552;540;552	Q86Y91;Q86Y91-3;Q86Y91-2	KI18B_HUMAN;.;.	N	543	ENSP00000412798:D543N;ENSP00000341466:D543N	ENSP00000341466:D543N	D	-	1	0	KIF18B	40361845	0.996000	0.38824	0.978000	0.43139	0.709000	0.40893	4.292000	0.59031	2.695000	0.91970	0.561000	0.74099	GAC		0.592	KIF18B-001	PUTATIVE	basic|appris_candidate|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000448724.1	NM_001080443		8	19	0	0	0	1	0	8	19					T	43006319	C	T	43006319	3	4	434	1	0	0	0	0	1	0	0	0	8281	884	31	2	959	2	KIF18B	17	43006319	Missense_Mutation	SNP	C	TCGA-XK-AAIV-01A-11D-A41K-08	4095211	43006319	38188891	49	20914											
CFD	1675	broad.mit.edu	37	chr19	859719	859719	+	Frame_Shift_Del	DEL	G	G	-																															tgggagcgcctggcagttctGgtcctcctaggagcggccgc																										TCGA-XK-AAIV-01A-11D-A41K-08	TCGA-XK-AAIV-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeaabd2b-588d-4ab0-a18d-66fe3cf89520	406a543f-c14a-4f78-bf50-77ea7e9a8ede	g.chr19:859719delG	ENST00000327726.6	+	1	267	c.30delG	c.(28-30)ctgfs	p.L10fs	CFD_ENST00000592860.1_Frame_Shift_Del_p.L10fs	NM_001928.2	NP_001919.2	P00746	CFAD_HUMAN	complement factor D (adipsin)	10					blood coagulation (GO:0007596)|complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|innate immune response (GO:0045087)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|proteolysis (GO:0006508)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule lumen (GO:0031093)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)						Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;0.000172)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TGGCAGTTCTGGTCCTCCTAG	0.682																																						ENST00000327726.6																			0											c.(28-30)ctfs		complement factor D (adipsin)							18	17	17					19																	859719		2172	4277	6449	SO:0001589	frameshift_variant	1675				complement activation, alternative pathway|platelet activation|platelet degranulation|proteolysis	platelet alpha granule lumen	serine-type endopeptidase activity	g.chr19:859719delG	M84526	CCDS12046.1	19p13.3	2014-09-17	2006-02-10	2006-02-10		ENSG00000197766		"Complement system"	2771	protein-coding gene	gene with protein product		134350	"D component of complement (adipsin)", "properdin factor D"	DF, PFD		1374388	Standard	NM_001928		Approved	ADN	uc002lqc.3	P00746		ENST00000327726.6:c.30delG	19.37:g.859719delG	ENSP00000332139:p.Leu10fs					CFD_ENST00000592860.1_Frame_Shift_Del_p.L10fs	p.L10fs	NM_001928.2	NP_001919.2	P00746	CFAD_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	1	267	+		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;0.000172)|Hepatocellular(1079;0.137)|Renal(1328;0.228)	10					B4DV76|Q5U5S1|Q86VJ5|Q8N4E0|Q8WZB4	Frame_Shift_Del	DEL	ENST00000327726.6	37	c.30delG	CCDS12046.1																																																																																				0.682	CFD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457891.2	NM_001928		2	4						2	4	---	---	---	---	-	859719	G	-	859719	7	5	434	1	0	1	0	1	0	0	0	0	3281	1335	47	0	32	0	CFD	19	859719	Frame_Shift_Del	DEL	G	TCGA-XK-AAIV-01A-11D-A41K-08		859719	58269264	50	20915											
ZNF878	729747	broad.mit.edu	37	chr19	12155835	12155835	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccatgtattgcaaggctactGgaataactaaaggctctgag	13	10	10	8	0	1	1	0	1	1	0	1	2	1	2	1	3	3	4	1	3	7	5			TCGA-XK-AAIV-01A-11D-A41K-08	TCGA-XK-AAIV-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeaabd2b-588d-4ab0-a18d-66fe3cf89520	406a543f-c14a-4f78-bf50-77ea7e9a8ede	g.chr19:12155835G>A	ENST00000547628.1	-	4	518	c.381C>T	c.(379-381)tcC>tcT	p.S127S	CTD-2006C1.2_ENST00000591898.1_RNA|CTD-2006C1.10_ENST00000547473.1_Intron|CTD-2006C1.2_ENST00000476474.1_RNA|CTD-2006C1.2_ENST00000591838.1_RNA|ZNF878_ENST00000602107.1_Silent_p.S174S	NM_001080404.2	NP_001073873.2	C9JN71	ZN878_HUMAN	zinc finger protein 878	127					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			cervix(1)|endometrium(1)|kidney(1)|lung(4)|urinary_tract(1)	8						CAAGGCTACTGGAATAACTAA	0.433																																						ENST00000602107.1																			0				cervix(1)|endometrium(1)|kidney(1)|lung(4)|urinary_tract(1)	8						c.(520-522)tcC>tcT		zinc finger protein 878							83	87	86					19																	12155835		2136	4270	6406	SO:0001819	synonymous_variant	729747				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	g.chr19:12155835G>A		CCDS45984.1, CCDS45984.2	19p13.2	2013-01-08				ENSG00000257446		"Zinc fingers, C2H2-type", "-"	37246	protein-coding gene	gene with protein product							Standard	NM_001080404		Approved		uc021upl.1	C9JN71		ENST00000547628.1:c.381C>T	19.37:g.12155835G>A						CTD-2006C1.2_ENST00000476474.1_RNA|ZNF878_ENST00000547628.1_Silent_p.S127S|CTD-2006C1.2_ENST00000591838.1_RNA|CTD-2006C1.10_ENST00000547473.1_Intron|CTD-2006C1.2_ENST00000591898.1_RNA	p.S174S			C9JN71	ZN878_HUMAN			5	521	-			127						Silent	SNP	ENST00000547628.1	37	c.522C>T	CCDS45984.2																																																																																				0.433	ZNF878-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403723.1	NM_001080404		7	51	0	0	0	1	0	7	51					A	12155835	G	A	12155835	2	1	434	1	0	0	0	0	0	0	0	1	18193	1335	47	3		3	ZNF878	19	12155835	Silent	SNP	G	TCGA-XK-AAIV-01A-11D-A41K-08	11296116	12155835	46973148	51	20916											
LTBP4	8425	broad.mit.edu	37	chr19	41112152	41112152	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccacagggaactccgaaagAgtgagcgccccagatggacc	12	3	13	13	2	0	3	0	1	0	2	1	6	1	5	5	2	2	0	5	2	2	0			TCGA-XK-AAIV-01A-11D-A41K-08	TCGA-XK-AAIV-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeaabd2b-588d-4ab0-a18d-66fe3cf89520	406a543f-c14a-4f78-bf50-77ea7e9a8ede	g.chr19:41112152A>C	ENST00000308370.7	+	8	1008	c.1008A>C	c.(1006-1008)agA>agC	p.R336S	LTBP4_ENST00000204005.9_Missense_Mutation_p.R299S|LTBP4_ENST00000545697.1_5'UTR|LTBP4_ENST00000602240.1_3'UTR|RN7SL758P_ENST00000580450.1_RNA|LTBP4_ENST00000396819.3_Missense_Mutation_p.R269S	NM_001042544.1	NP_001036009.1	Q8N2S1	LTBP4_HUMAN	latent transforming growth factor beta binding protein 4	336	TB 1.				extracellular matrix organization (GO:0030198)|growth hormone secretion (GO:0030252)|multicellular organismal development (GO:0007275)|protein folding (GO:0006457)|regulation of cell differentiation (GO:0045595)|regulation of cell growth (GO:0001558)|regulation of proteolysis (GO:0030162)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|glycosaminoglycan binding (GO:0005539)|integrin binding (GO:0005178)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta-activated receptor activity (GO:0005024)			central_nervous_system(1)	1			Lung(22;0.000158)|LUSC - Lung squamous cell carcinoma(20;0.000384)			ACTCCGAAAGAGTGAGCGCCC	0.632																																						ENST00000308370.7																			0				central_nervous_system(1)	1						c.(1006-1008)agA>agC		latent transforming growth factor beta binding protein 4							19	21	21					19																	41112152		1952	4136	6088	SO:0001583	missense	8425				growth hormone secretion|multicellular organismal development|protein folding|regulation of cell differentiation|regulation of cell growth|regulation of proteolysis|regulation of transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|glycosaminoglycan binding|integrin binding|transforming growth factor beta binding|transforming growth factor beta receptor activity	g.chr19:41112152A>C	Y13622	CCDS74368.1, CCDS74369.1, CCDS74370.1	19q13.1-q13.2	2011-10-20				ENSG00000090006		"Latent transforming growth factor, beta binding proteins"	6717	protein-coding gene	gene with protein product		604710				9660815, 9271198	Standard	NM_003573		Approved	LTBP-4, LTBP-4L, FLJ46318, FLJ90018	uc002ooh.1	Q8N2S1		ENST00000308370.7:c.1008A>C	19.37:g.41112152A>C	ENSP00000311905:p.Arg336Ser					LTBP4_ENST00000545697.1_5'UTR|LTBP4_ENST00000204005.9_Missense_Mutation_p.R299S|LTBP4_ENST00000396819.3_Missense_Mutation_p.R269S|LTBP4_ENST00000602240.1_3'UTR	p.R336S	NM_001042544.1	NP_001036009.1	Q8N2S1	LTBP4_HUMAN	Lung(22;0.000158)|LUSC - Lung squamous cell carcinoma(20;0.000384)		8	1008	+			336			TB 1.		O00508|O75412|O75413	Missense_Mutation	SNP	ENST00000308370.7	37	c.1008A>C		.	.	.	.	.	.	.	.	.	.	A	7.515	0.655461	0.14580	.	.	ENSG00000090006	ENST00000204005;ENST00000308370;ENST00000396819	D;D;D	0.92099	-2.97;-2.97;-2.97	3.63	1.42	0.22433	Matrix fibril-associated (2);	0.946895	0.08560	U	0.927643	D	0.82595	0.5071	N	0.22421	0.69	0.09310	N	0.999995	B;B;B	0.06786	0.001;0.001;0.001	B;B;B	0.08055	0.002;0.003;0.003	T	0.66689	-0.5860	10	0.19590	T	0.45	.	2.7698	0.05330	0.5763:0.0:0.2313:0.1924	.	269;336;299	E7EUU1;Q8N2S1;E7ENG9	.;LTBP4_HUMAN;.	S	299;336;269	ENSP00000204005:R299S;ENSP00000311905:R336S;ENSP00000380031:R269S	ENSP00000204005:R299S	R	+	3	2	LTBP4	45803992	0.000000	0.05858	0.001000	0.08648	0.047000	0.14425	-0.524000	0.06222	0.470000	0.27294	0.254000	0.18369	AGA		0.632	LTBP4-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_003573		3	8	0	0	0	1	0	3	8					C	41112152	A	C	41112152	3	2	434	1	0	0	0	0	1	0	0	0	9076	301	11	5	1331	5	LTBP4	19	41112152	Missense_Mutation	SNP	A	TCGA-XK-AAIV-01A-11D-A41K-08	28956317	41112152	18016831	52	20917											
KLK4	9622	broad.mit.edu	37	chr19	51412615	51412615	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcctgccagggctgcgagtgCgggctgcagtcctcgccgtt	3	8	16	14	4	0	0	0	0	0	0	2	1	1	0	4	2	4	4	4	2	0	1			TCGA-XK-AAIV-01A-11D-A41K-08	TCGA-XK-AAIV-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeaabd2b-588d-4ab0-a18d-66fe3cf89520	406a543f-c14a-4f78-bf50-77ea7e9a8ede	g.chr19:51412615C>T	ENST00000324041.1	-	2	116	c.117G>A	c.(115-117)ccG>ccA	p.P39P	KLK4_ENST00000431178.2_5'Flank|KLK4_ENST00000597441.1_5'Flank	NM_004917.3	NP_004908.3	Q9Y5K2	KLK4_HUMAN	kallikrein-related peptidase 4	39	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				amelogenesis (GO:0097186)|extracellular matrix disassembly (GO:0022617)|protein catabolic process (GO:0030163)|proteolysis (GO:0006508)	extracellular region (GO:0005576)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(8)	19		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00624)|GBM - Glioblastoma multiforme(134;0.00878)		GCTGCGAGTGCGGGCTGCAGT	0.637																																						ENST00000324041.1																			0				autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(8)	19						c.(115-117)ccG>ccA		kallikrein-related peptidase 4							136	150	145					19																	51412615		2203	4300	6503	SO:0001819	synonymous_variant	9622				proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity	g.chr19:51412615C>T	AF113141	CCDS12809.1	19q13.41	2014-09-04	2006-10-27		ENSG00000167749	ENSG00000167749		"Kallikreins", "Serine peptidases / Serine peptidases"	6365	protein-coding gene	gene with protein product		603767	"kallikrein 4 (prostase, enamel matrix, prostate)"	PRSS17		10077646, 10438493, 16800724, 10863090, 9465170	Standard	XM_005259441		Approved	EMSP, EMSP1, PSTS, KLK-L1	uc002pua.1	Q9Y5K2	OTTHUMG00000182964	ENST00000324041.1:c.117G>A	19.37:g.51412615C>T							p.P39P	NM_004917.3	NP_004908.3	Q9Y5K2	KLK4_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00624)|GBM - Glioblastoma multiforme(134;0.00878)	2	116	-		all_neural(266;0.026)	39			Peptidase S1.		Q4VB16|Q96RU5|Q9GZL6|Q9UBJ6	Silent	SNP	ENST00000324041.1	37	c.117G>A	CCDS12809.1																																																																																				0.637	KLK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464449.1	NM_004917		4	212	0	0	0	1	0	4	212					T	51412615	C	T	51412615	2	4	434	1	0	0	0	0	0	0	0	1	8406	755	27	1		1	KLK4	19	51412615	Silent	SNP	C	TCGA-XK-AAIV-01A-11D-A41K-08	10300463	51412615	7716368	53	20918											
LILRA2	11027	broad.mit.edu	37	chr19	55086927	55086927	+	Missense_Mutation	SNP	C	C	G																															caccctgggccctgtgagccCctcccacgggggccagtaca																								rs560494676	byFrequency	TCGA-XK-AAIV-01A-11D-A41K-08	TCGA-XK-AAIV-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeaabd2b-588d-4ab0-a18d-66fe3cf89520	406a543f-c14a-4f78-bf50-77ea7e9a8ede	g.chr19:55086927C>G	ENST00000251377.3	+	6	993	c.860C>G	c.(859-861)cCc>cGc	p.P287R	LILRA2_ENST00000251376.3_Missense_Mutation_p.P287R|LILRA2_ENST00000391737.1_Missense_Mutation_p.P275R|LILRB1_ENST00000448689.1_Intron|LILRB1_ENST00000396321.2_Intron|LILRA2_ENST00000391738.3_Missense_Mutation_p.P287R|LILRB1_ENST00000418536.2_Intron			Q8N149	LIRA2_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2	287	Ig-like C2-type 3.				defense response (GO:0006952)|immune system process (GO:0002376)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	antigen binding (GO:0003823)|receptor activity (GO:0004872)			breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(33)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50				GBM - Glioblastoma multiforme(193;0.0963)		CCTGTGAGCCCCTCCCACGGG	0.637													c|||	7	0.00139776	0	0.0029	5008	,	,		16176	0		0	False		,,,				2504	0.0051					ENST00000251377.3																			0				breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(33)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50						c.(859-861)cCc>cGc		leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2							51	53	52					19																	55086927		2203	4299	6502	SO:0001583	missense	0							g.chr19:55086927C>G	U82275	CCDS12900.1, CCDS46179.1, CCDS74453.1	19q13.4	2013-01-11			ENSG00000239998	ENSG00000239998		"Leukocyte immunoglobulin-like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6603	protein-coding gene	gene with protein product		604812				9079806, 9548455	Standard	XM_005258452		Approved	LIR-7, ILT1, CD85h, LIR7		Q8N149	OTTHUMG00000065703	ENST00000251377.3:c.860C>G	19.37:g.55086927C>G	ENSP00000251377:p.Pro287Arg					LILRB1_ENST00000396321.2_Intron|LILRA2_ENST00000391738.3_Missense_Mutation_p.P287R|LILRB1_ENST00000448689.1_Intron|LILRA2_ENST00000391737.1_Missense_Mutation_p.P275R|LILRA2_ENST00000251376.3_Missense_Mutation_p.P287R|LILRB1_ENST00000418536.2_Intron	p.P287R						GBM - Glioblastoma multiforme(193;0.0963)	6	993	+								O75020	Missense_Mutation	SNP	ENST00000251377.3	37	c.860C>G	CCDS46179.1	.	.	.	.	.	.	.	.	.	.	C	0	-2.616861	0.00118	.	.	ENSG00000239998	ENST00000439534;ENST00000251377;ENST00000391738;ENST00000251376;ENST00000391737	T;T;T;T;T	0.13089	2.62;2.62;2.62;2.62;2.62	2.8	-5.59	0.02505	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	10.104300	0.00481	N	0.000131	T	0.07052	0.0179	N	0.25144	0.715	0.09310	N	1	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.17098	0.017;0.002;0.002;0.001	T	0.37596	-0.9699	10	0.05959	T	0.93	.	3.4105	0.07356	0.2975:0.4556:0.1328:0.1142	.	287;275;287;287	E9PDF4;A8MZH0;Q8N149;Q8N149-2	.;.;LIRA2_HUMAN;.	R	287;287;287;287;275	ENSP00000388131:P287R;ENSP00000251377:P287R;ENSP00000375618:P287R;ENSP00000251376:P287R;ENSP00000375617:P275R	ENSP00000251376:P287R	P	+	2	0	LILRA2	59778739	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-3.336000	0.00507	-2.650000	0.00424	-3.580000	0.00029	CCC		0.637	LILRA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000140813.2			4	68	0	0	0	1	0	4	68					G	55086927	C	G	55086927	3	3	434	1	0	0	0	0	1	0	0	0	8785	623	22	5	878	5	LILRA2	19	55086927	Missense_Mutation	SNP	C	TCGA-XK-AAIV-01A-11D-A41K-08	3674312	55086927	4042056	54	20919	106	2									
LILRA2	11027	broad.mit.edu	37	chr19	55086932	55086932	+	Missense_Mutation	SNP	C	C	T																															tgggccctgtgagcccctccCacgggggccagtacagatgc																								rs532565720	byFrequency	TCGA-XK-AAIV-01A-11D-A41K-08	TCGA-XK-AAIV-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeaabd2b-588d-4ab0-a18d-66fe3cf89520	406a543f-c14a-4f78-bf50-77ea7e9a8ede	g.chr19:55086932C>T	ENST00000251377.3	+	6	998	c.865C>T	c.(865-867)Cac>Tac	p.H289Y	LILRA2_ENST00000251376.3_Missense_Mutation_p.H289Y|LILRA2_ENST00000391737.1_Missense_Mutation_p.H277Y|LILRB1_ENST00000448689.1_Intron|LILRB1_ENST00000396321.2_Intron|LILRA2_ENST00000391738.3_Missense_Mutation_p.H289Y|LILRB1_ENST00000418536.2_Intron			Q8N149	LIRA2_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2	289	Ig-like C2-type 3.				defense response (GO:0006952)|immune system process (GO:0002376)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	antigen binding (GO:0003823)|receptor activity (GO:0004872)	p.H289Y(1)		breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(33)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50				GBM - Glioblastoma multiforme(193;0.0963)		GAGCCCCTCCCACGGGGGCCA	0.647													c|||	6	0.00119808	0	0.0014	5008	,	,		16291	0		0	False		,,,				2504	0.0051					ENST00000251377.3																			1	Substitution - Missense(1)	p.H289Y(1)	kidney(1)	breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(33)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50						c.(865-867)Cac>Tac		leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2							49	51	50					19																	55086932		2203	4299	6502	SO:0001583	missense	0							g.chr19:55086932C>T	U82275	CCDS12900.1, CCDS46179.1, CCDS74453.1	19q13.4	2013-01-11			ENSG00000239998	ENSG00000239998		"Leukocyte immunoglobulin-like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6603	protein-coding gene	gene with protein product		604812				9079806, 9548455	Standard	XM_005258452		Approved	LIR-7, ILT1, CD85h, LIR7		Q8N149	OTTHUMG00000065703	ENST00000251377.3:c.865C>T	19.37:g.55086932C>T	ENSP00000251377:p.His289Tyr					LILRB1_ENST00000396321.2_Intron|LILRA2_ENST00000391738.3_Missense_Mutation_p.H289Y|LILRB1_ENST00000448689.1_Intron|LILRA2_ENST00000391737.1_Missense_Mutation_p.H277Y|LILRA2_ENST00000251376.3_Missense_Mutation_p.H289Y|LILRB1_ENST00000418536.2_Intron	p.H289Y						GBM - Glioblastoma multiforme(193;0.0963)	6	998	+								O75020	Missense_Mutation	SNP	ENST00000251377.3	37	c.865C>T	CCDS46179.1	.	.	.	.	.	.	.	.	.	.	C	8.190	0.795735	0.16327	.	.	ENSG00000239998	ENST00000439534;ENST00000251377;ENST00000391738;ENST00000251376;ENST00000391737	T;T;T;T;T	0.00824	5.65;5.65;5.65;5.65;5.65	2.8	2.8	0.32819	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.843870	0.10052	N	0.722156	T	0.02767	0.0083	M	0.81179	2.53	0.25235	N	0.989797	B;B;B;B	0.17038	0.018;0.02;0.009;0.001	B;B;B;B	0.38458	0.274;0.077;0.077;0.015	T	0.36648	-0.9739	10	0.28530	T	0.3	.	9.2391	0.37484	0.0:1.0:0.0:0.0	.	289;277;289;289	E9PDF4;A8MZH0;Q8N149;Q8N149-2	.;.;LIRA2_HUMAN;.	Y	289;289;289;289;277	ENSP00000388131:H289Y;ENSP00000251377:H289Y;ENSP00000375618:H289Y;ENSP00000251376:H289Y;ENSP00000375617:H277Y	ENSP00000251376:H289Y	H	+	1	0	LILRA2	59778744	0.000000	0.05858	0.006000	0.13384	0.119000	0.20118	0.417000	0.21214	1.570000	0.49709	0.400000	0.26472	CAC		0.647	LILRA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000140813.2			4	63	0	0	0	1	0	4	63					T	55086932	C	T	55086932	3	4	434	1	0	0	0	0	1	0	0	0	8785	594	21	3	883	3	LILRA2	19	55086932	Missense_Mutation	SNP	C	TCGA-XK-AAIV-01A-11D-A41K-08	5	55086932	4042051	55	20920	106	2									
GNAS	2778	broad.mit.edu	37	chr20	57415578	57415578	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cccaccactgagcccgagacCgagcctgaagacgatcgcgg	10	3	12	16	5	0	4	0	2	0	2	1	7	0	4	5	1	2	0	5	1	1	0	rs148044699		TCGA-XK-AAIV-01A-11D-A41K-08	TCGA-XK-AAIV-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeaabd2b-588d-4ab0-a18d-66fe3cf89520	406a543f-c14a-4f78-bf50-77ea7e9a8ede	g.chr20:57415578C>T	ENST00000313949.7	+	1	806	c.417C>T	c.(415-417)acC>acT	p.T139T	GNAS-AS1_ENST00000443966.1_RNA|GNAS-AS1_ENST00000598163.1_RNA|GNAS_ENST00000371075.3_Silent_p.T139T|GNAS_ENST00000371098.2_Silent_p.T139T|GNAS-AS1_ENST00000424094.2_RNA			P63092	GNAS2_HUMAN	GNAS complex locus	0					activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-activating adrenergic receptor signaling pathway (GO:0071880)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|blood coagulation (GO:0007596)|bone development (GO:0060348)|cAMP biosynthetic process (GO:0006171)|cellular response to catecholamine stimulus (GO:0071870)|cellular response to glucagon stimulus (GO:0071377)|cellular response to prostaglandin E stimulus (GO:0071380)|cognition (GO:0050890)|developmental growth (GO:0048589)|energy reserve metabolic process (GO:0006112)|hair follicle placode formation (GO:0060789)|intracellular transport (GO:0046907)|platelet aggregation (GO:0070527)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of Ras GTPase activity (GO:0032320)|regulation of insulin secretion (GO:0050796)|sensory perception of smell (GO:0007608)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|intrinsic component of membrane (GO:0031224)|membrane (GO:0016020)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)	adenylate cyclase activity (GO:0004016)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)			adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1)	441	all_lung(29;0.0104)		BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)			AGCCCGAGACCGAGCCTGAAG	0.652			Mis		pituitary adenoma		"McCune-Albright syndrome; pseudohypoparathyroidism, type IA"			TSP Lung(22;0.16)																											Colon(117;935 1597 6045 8307 46442)	ENST00000313949.7				Dom	yes		20	20q13.2	2778	Mis	"guanine nucleotide binding protein (G protein), alpha stimulating activity polypeptide 1"	yes	"McCune-Albright syndrome; pseudohypoparathyroidism, type IA"	E			pituitary adenoma		0				adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1)	441						c.(415-417)acC>acT		GNAS complex locus							79	73	75					20																	57415578		2203	4300	6503	SO:0001819	synonymous_variant	2778				activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport	heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane	adenylate cyclase activity|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity	g.chr20:57415578C>T	M21142	CCDS13471.1, CCDS13472.1, CCDS42892.1, CCDS46622.1, CCDS46623.1, CCDS46624.1	20q13.2-q13.3	2010-03-01	2001-12-19	2001-12-20	ENSG00000087460	ENSG00000087460			4392	protein-coding gene	gene with protein product	"secretogranin VI"	139320	"guanine nucleotide binding protein (G protein), alpha stimulating activity polypeptide 1"	GNAS1			Standard	NM_000516		Approved	NESP55, NESP, GNASXL, GPSA, SCG6	uc002xzw.3	O95467	OTTHUMG00000033069	ENST00000313949.7:c.417C>T	20.37:g.57415578C>T		TSP Lung(22;0.16)				GNAS-AS1_ENST00000598163.1_RNA|GNAS-AS1_ENST00000424094.2_RNA|GNAS-AS1_ENST00000443966.1_RNA|GNAS_ENST00000371098.2_Silent_p.T139T|GNAS_ENST00000371075.3_Silent_p.T139T	p.T139T			P63092	GNAS2_HUMAN	BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)		1	806	+	all_lung(29;0.0104)		0					A6NI00|E1P5G5|P04895|Q12927|Q14433|Q32P26|Q5JWD2|Q5JWD4|Q5JWD5|Q6NR75|Q6NXS0|Q8TBC0|Q96H70	Silent	SNP	ENST00000313949.7	37	c.417C>T	CCDS13471.1	.	.	.	.	.	.	.	.	.	.	C	10.49	1.364675	0.24684	.	.	ENSG00000087460	ENST00000419558	.	.	.	5.14	3.07	0.35406	.	.	.	.	.	T	0.54822	0.1882	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.50693	-0.8798	4	.	.	.	.	6.3331	0.21281	0.0:0.7128:0.1877:0.0995	.	.	.	.	L	7	.	.	P	+	2	0	GNAS	56848973	0.993000	0.37304	1.000000	0.80357	0.959000	0.62525	-0.021000	0.12504	1.307000	0.44944	0.585000	0.79938	CCG		0.652	GNAS-002	KNOWN	NMD_exception|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000080418.7	NM_000516		6	53	0	0	0	1	0	6	53					T	57415578	C	T	57415578	2	4	434	1	0	0	0	0	0	0	0	1	6510	639	23	2		2	GNAS	20	57415578	Silent	SNP	C	TCGA-XK-AAIV-01A-11D-A41K-08		57415578	5609942	56	20921											
SETD4	54093	broad.mit.edu	37	chr21	37408549	37408549	+	Splice_Site	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ttcatccttcatatgagacaCctgaaagttattttttaatt	12	18	4	7	0	2	2	2	2	0	1	3	3	3	2	2	0	0	1	2	0	4	8			TCGA-XK-AAIV-01A-11D-A41K-08	TCGA-XK-AAIV-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeaabd2b-588d-4ab0-a18d-66fe3cf89520	406a543f-c14a-4f78-bf50-77ea7e9a8ede	g.chr21:37408549C>G	ENST00000399215.1	-	10	2561	c.1189G>C	c.(1189-1191)Gtg>Ctg	p.V397L	SETD4_ENST00000399212.1_Splice_Site_p.V373L|SETD4_ENST00000481477.1_5'UTR|AP000688.1_ENST00000600312.1_Intron|SETD4_ENST00000332131.4_Splice_Site_p.V397L			Q9NVD3	SETD4_HUMAN	SET domain containing 4	397				EILVKYLPSTDKQMDKKISILKDHGYIENLTFGWDGPSWRL LTALKLLCLEAEKFTCWKKVLLGEVISDTNEKTSLDIAQKI CYYFIEETNAVLQKVSHMKDEKEALINQLTLVESLWTEELK ILRASAETLHSLQTAFT -> GWNQLCS (in Ref. 5; AAH02898). {ECO:0000305}.			methyltransferase activity (GO:0008168)			autonomic_ganglia(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)	15						ATATGAGACACCTGAAAGTTA	0.348																																						ENST00000399215.1																			0				autonomic_ganglia(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)	15						c.e10-1		SET domain containing 4							72	71	72					21																	37408549		2203	4300	6503	SO:0001630	splice_region_variant	54093							g.chr21:37408549C>G	AK001660	CCDS13640.1, CCDS42923.1, CCDS74791.1, CCDS74792.1	21q22.13	2006-02-15	2006-02-15	2006-02-15	ENSG00000185917	ENSG00000185917			1258	protein-coding gene	gene with protein product			"chromosome 21 open reading frame 27", "chromosome 21 open reading frame 18"	C21orf27, C21orf18			Standard	XM_005261000		Approved		uc021wiy.1	Q9NVD3	OTTHUMG00000086483	ENST00000399215.1:c.1189-1G>C	21.37:g.37408549C>G						SETD4_ENST00000399212.1_Splice_Site_p.V373_splice|SETD4_ENST00000481477.1_5'UTR|SETD4_ENST00000332131.4_Splice_Site_p.V397_splice|AP000688.1_ENST00000600312.1_Intron	p.V397_splice			Q9NVD3	SETD4_HUMAN			10	2561	-			397	EILVKYLPSTDKQMDKKISILKDHGYIENLTFGWDGPSWRL LTALKLLCLEAEKFTCWKKVLLGEVISDTNEKTSLDIAQKI CYYFIEETNAVLQKVSHMKDEKEALINQLTLVESLWTEELK ILRASAETLHSLQTAFT -> GWNQLCS (in Ref. 5; AAH02898).				B4DT14|D3DSG2|D3DSG4|Q8NE19|Q9BU46	Splice_Site	SNP	ENST00000399215.1	37	c.1188_splice	CCDS13640.1	.	.	.	.	.	.	.	.	.	.	C	9.257	1.042219	0.19748	.	.	ENSG00000185917	ENST00000399215;ENST00000399212;ENST00000332131	T;T;T	0.16196	2.36;2.36;2.36	5.63	0.528	0.17089	Rubisco LS methyltransferase, substrate-binding domain (1);	0.559355	0.18825	N	0.130160	T	0.12475	0.0303	L	0.48362	1.52	0.80722	D	1	B;B	0.20164	0.034;0.042	B;B	0.21708	0.021;0.036	T	0.14144	-1.0483	10	0.08837	T	0.75	-2.9596	9.2463	0.37527	0.0:0.5197:0.0:0.4803	.	373;397	Q9NVD3-3;Q9NVD3	.;SETD4_HUMAN	L	397;373;397	ENSP00000382163:V397L;ENSP00000382161:V373L;ENSP00000329189:V397L	ENSP00000329189:V397L	V	-	1	0	SETD4	36330419	0.992000	0.36948	0.991000	0.47740	0.134000	0.20937	0.033000	0.13754	0.275000	0.22094	0.563000	0.77884	GTG		0.348	SETD4-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194456.1	NM_017438	Missense_Mutation	14	107	0	0	0	1	0	14	107					G	37408549	C	G	37408549	5	3	434	1	0	0	0	0	0	0	1	0	14133	521	18	5	137	5	SETD4	21	37408549	Splice_Site	SNP	C	TCGA-XK-AAIV-01A-11D-A41K-08		37408549	10721346	57	20922											
DOPEY2	9980	broad.mit.edu	37	chr21	37584273	37584273	+	Splice_Site	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctctgtccttctaataggAttccaatgagagagccatcc	10	13	7	11	0	2	2	0	1	2	1	6	4	5	3	4	1	1	0	4	1	3	5			TCGA-XK-AAIV-01A-11D-A41K-08	TCGA-XK-AAIV-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeaabd2b-588d-4ab0-a18d-66fe3cf89520	406a543f-c14a-4f78-bf50-77ea7e9a8ede	g.chr21:37584273A>T	ENST00000399151.3	+	7	867	c.782A>T	c.(781-783)gAt>gTt	p.D261V	RN7SL73P_ENST00000585239.1_RNA|DOPEY2_ENST00000492760.1_3'UTR	NM_005128.2	NP_005119.2	Q9Y3R5	DOP2_HUMAN	dopey family member 2	261					cognition (GO:0050890)|endoplasmic reticulum organization (GO:0007029)|Golgi to endosome transport (GO:0006895)|multicellular organismal development (GO:0007275)|protein transport (GO:0015031)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						TTCTAATAGGATTCCAATGAG	0.507																																						ENST00000399151.3																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						c.e7-1		dopey family member 2							101	87	92					21																	37584273		2203	4300	6503	SO:0001630	splice_region_variant	9980				endoplasmic reticulum organization|Golgi to endosome transport|multicellular organismal development|protein transport	Golgi membrane		g.chr21:37584273A>T	AJ237839	CCDS13643.1	21q22.2	2013-03-05	2006-02-02	2006-02-02	ENSG00000142197	ENSG00000142197			1291	protein-coding gene	gene with protein product		604803	"chromosome 21 open reading frame 5"	C21orf5		16301316, 16303751, 10931277	Standard	NM_005128		Approved	KIAA0933	uc002yvg.3	Q9Y3R5	OTTHUMG00000086619	ENST00000399151.3:c.781-1A>T	21.37:g.37584273A>T						DOPEY2_ENST00000492760.1_3'UTR	p.D261_splice	NM_005128.2	NP_005119.2	Q9Y3R5	DOP2_HUMAN			7	867	+			261					D3DSG5|Q6PJQ7|Q9UEZ3	Splice_Site	SNP	ENST00000399151.3	37	c.780_splice	CCDS13643.1	.	.	.	.	.	.	.	.	.	.	A	0.606	-0.826831	0.02734	.	.	ENSG00000142197	ENST00000399151	T	0.13089	2.62	5.23	5.23	0.72850	Dopey, N-terminal (1);	0.046390	0.85682	D	0.000000	T	0.11239	0.0274	L	0.36672	1.1	0.80722	D	1	B;B	0.33807	0.372;0.426	B;B	0.35770	0.109;0.21	T	0.18241	-1.0343	10	0.15066	T	0.55	.	10.3762	0.44083	0.8538:0.0:0.0:0.1462	.	261;261	Q9Y3R5-2;Q9Y3R5	.;DOP2_HUMAN	V	261	ENSP00000382104:D261V	ENSP00000382104:D261V	D	+	2	0	DOPEY2	36506143	1.000000	0.71417	0.839000	0.33178	0.075000	0.17131	5.702000	0.68332	1.967000	0.57214	0.533000	0.62120	GAT		0.507	DOPEY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194636.1	NM_005128	Missense_Mutation	21	72	0	0	0	1	0	21	72					T	37584273	A	T	37584273	5	4	434	1	0	0	0	0	0	0	1	0	4708	347	12	5	804	5	DOPEY2	21	37584273	Splice_Site	SNP	A	TCGA-XK-AAIV-01A-11D-A41K-08	175724	37584273	10545622	58	20923											
DSCAM	1826	broad.mit.edu	37	chr21	41385014	41385014	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtttcctttcaaatggccccGggagtcgagcagtgattctt	7	13	11	10	2	2	1	1	1	1	0	4	3	3	2	3	2	1	2	3	2	1	4	rs200198659		TCGA-XK-AAIV-01A-11D-A41K-08	TCGA-XK-AAIV-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeaabd2b-588d-4ab0-a18d-66fe3cf89520	406a543f-c14a-4f78-bf50-77ea7e9a8ede	g.chr21:41385014G>T	ENST00000400454.1	-	33	6463	c.5986C>A	c.(5986-5988)Cgg>Agg	p.R1996R		NM_001271534.1|NM_001389.3	NP_001258463.1|NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	1996				HRPGDLIHLPPYLRMDFLLNRGGPGTSRDLSLGQACLEPQK SRTLKRPTVLEPIPMEAASSASSTREGQSWQPGAVATLPQR EGAELGQAAKMSSSQESLLDSRGHLKGNNPYAKSYTLV -> IGQVTSYICLHTLEWTFC (in Ref. 1; AAC17966). {ECO:0000305}.	cell adhesion (GO:0007155)|dendrite morphogenesis (GO:0048813)|dendrite self-avoidance (GO:0070593)|locomotory behavior (GO:0007626)|negative regulation of cell adhesion (GO:0007162)|nervous system development (GO:0007399)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of phosphorylation (GO:0042327)|post-embryonic retina morphogenesis in camera-type eye (GO:0060060)	axon (GO:0030424)|extracellular region (GO:0005576)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				AAATGGCCCCGGGAGTCGAGC	0.522																																					Melanoma(134;970 1778 1785 21664 32388)	ENST00000400454.1																			0				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142						c.(5986-5988)Cgg>Agg		Down syndrome cell adhesion molecule							60	59	59					21																	41385014		1903	4123	6026	SO:0001819	synonymous_variant	1826				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding	g.chr21:41385014G>T	AF023449	CCDS42929.1	21q22.2-q22.3	2013-02-11			ENSG00000171587	ENSG00000171587		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	3039	protein-coding gene	gene with protein product		602523				9426258	Standard	NM_001271534		Approved	CHD2-42, CHD2-52	uc002yyq.1	O60469	OTTHUMG00000086732	ENST00000400454.1:c.5986C>A	21.37:g.41385014G>T							p.R1996R	NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN			33	6463	-		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)	1996	HRPGDLIHLPPYLRMDFLLNRGGPGTSRDLSLGQACLEPQK SRTLKRPTVLEPIPMEAASSASSTREGQSWQPGAVATLPQR EGAELGQAAKMSSSQESLLDSRGHLKGNNPYAKSYTLV -> IGQVTSYICLHTLEWTFC (in Ref. 1; AAC17966).				O60468	Silent	SNP	ENST00000400454.1	37	c.5986C>A	CCDS42929.1																																																																																				0.522	DSCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195029.1	NM_001389		3	58	1	0	6.4e-05	1	6.67429e-05	3	58					T	41385014	G	T	41385014	2	4	434	1	0	0	0	0	0	0	0	1	4768	1115	39	5		5	DSCAM	21	41385014	Silent	SNP	G	TCGA-XK-AAIV-01A-11D-A41K-08	3800741	41385014	6744881	59	20924											
CCDC116	164592	broad.mit.edu	37	chr22	21989079	21989079	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcagcccttgtcctggttcTcagggctgctgggctcaagc	5	10	13	13	0	2	0	2	0	1	0	4	0	3	0	2	3	4	5	2	3	1	2			TCGA-XK-AAIV-01A-11D-A41K-08	TCGA-XK-AAIV-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeaabd2b-588d-4ab0-a18d-66fe3cf89520	406a543f-c14a-4f78-bf50-77ea7e9a8ede	g.chr22:21989079T>G	ENST00000292779.3	+	4	888	c.727T>G	c.(727-729)Tca>Gca	p.S243A	CCDC116_ENST00000607942.1_Missense_Mutation_p.S243A	NM_152612.2	NP_689825.2	Q8IYX3	CC116_HUMAN	coiled-coil domain containing 116	243										endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(5)	22	Colorectal(54;0.105)					GTCCTGGTTCTCAGGGCTGCT	0.592																																						ENST00000292779.3																			0				endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(5)	22						c.(727-729)Tca>Gca		coiled-coil domain containing 116							88	93	92					22																	21989079		2203	4300	6503	SO:0001583	missense	164592							g.chr22:21989079T>G	BC033499	CCDS13791.1	22q11.21	2006-06-27			ENSG00000161180	ENSG00000161180			26688	protein-coding gene	gene with protein product						12477932	Standard	NM_152612		Approved	FLJ36046	uc002zve.3	Q8IYX3	OTTHUMG00000150821	ENST00000292779.3:c.727T>G	22.37:g.21989079T>G	ENSP00000292779:p.Ser243Ala						p.S243A	NM_152612.2	NP_689825.2	Q8IYX3	CC116_HUMAN			4	888	+	Colorectal(54;0.105)		243					Q8N9Y9	Missense_Mutation	SNP	ENST00000292779.3	37	c.727T>G	CCDS13791.1	.	.	.	.	.	.	.	.	.	.	T	6.494	0.459264	0.12342	.	.	ENSG00000161180	ENST00000292779	T	0.15487	2.42	4.42	0.677	0.17964	.	0.322581	0.22750	N	0.056083	T	0.10252	0.0251	N	0.24115	0.695	0.22639	N	0.998901	B;B	0.31910	0.229;0.346	B;B	0.35278	0.199;0.142	T	0.19257	-1.0311	10	0.72032	D	0.01	-54.6265	4.3545	0.11172	0.3557:0.0:0.1839:0.4605	.	243;243	B7Z7H5;Q8IYX3-2	.;.	A	243	ENSP00000292779:S243A	ENSP00000292779:S243A	S	+	1	0	CCDC116	20319079	0.928000	0.31464	0.948000	0.38648	0.051000	0.14879	0.381000	0.20619	0.275000	0.22094	-0.769000	0.03391	TCA		0.592	CCDC116-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000320199.1	NM_152612		27	66	0	0	0	1	0	27	66					G	21989079	T	G	21989079	3	3	434	1	0	0	0	0	1	0	0	0	2753	1551	54	5	737	5	CCDC116	22	21989079	Missense_Mutation	SNP	T	TCGA-XK-AAIV-01A-11D-A41K-08		21989079	29315487	60	20925											
KLHL17	339451	broad.mit.edu	37	chr1	898630	898630	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gaaccggctctatgctgtggGcgggtaagcctggaggctgg	6	8	18	9	2	1	0	0	0	1	0	1	2	1	1	2	6	3	4	2	6	3	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:898630G>A	ENST00000338591.3	+	7	1291	c.1184G>A	c.(1183-1185)gGc>gAc	p.G395D		NM_198317.2	NP_938073.1	Q6TDP4	KLH17_HUMAN	kelch-like family member 17	395	Interaction with F-actin. {ECO:0000250}.				actin cytoskeleton organization (GO:0030036)|brain development (GO:0007420)|protein ubiquitination (GO:0016567)	actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|dendrite cytoplasm (GO:0032839)|extracellular space (GO:0005615)|neuronal cell body (GO:0043025)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	protein complex scaffold (GO:0032947)			central_nervous_system(1)|kidney(2)|lung(3)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	10	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.52e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.59e-23)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.000469)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		TATGCTGTGGGCGGGTAAGCC	0.672																																						ENST00000338591.3																			0				central_nervous_system(1)|kidney(2)|lung(3)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	10						c.(1183-1185)gGc>gAc		kelch-like family member 17							50	56	54					1																	898630		2188	4296	6484	SO:0001583	missense	339451				actin cytoskeleton organization	actin cytoskeleton|cell junction|postsynaptic density|postsynaptic membrane	protein complex scaffold	g.chr1:898630G>A	AY423763	CCDS30550.1	1p36	2013-01-30	2013-01-30		ENSG00000187961	ENSG00000187961		"Kelch-like", "BTB/POZ domain containing"	24023	protein-coding gene	gene with protein product	"actinfilin"		"kelch-like 17 (Drosophila)"			12063253	Standard	NM_198317		Approved		uc001aca.2	Q6TDP4	OTTHUMG00000040721	ENST00000338591.3:c.1184G>A	1.37:g.898630G>A	ENSP00000343930:p.Gly395Asp						p.G395D	NM_198317.2	NP_938073.1	Q6TDP4	KLH17_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.52e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.59e-23)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.000469)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)	7	1291	+	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)	395			Interaction with F-actin (By similarity).		Q5SV94	Missense_Mutation	SNP	ENST00000338591.3	37	c.1184G>A	CCDS30550.1	.	.	.	.	.	.	.	.	.	.	G	13.83	2.355245	0.41700	.	.	ENSG00000187961	ENST00000338591;ENST00000455747;ENST00000540863	D	0.98792	-5.14	5.52	5.52	0.82312	Galactose oxidase, beta-propeller (1);	0.000000	0.85682	D	0.000000	D	0.99654	0.9872	H	0.99811	4.8	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.97134	0.9820	10	0.87932	D	0	.	19.4354	0.94792	0.0:0.0:1.0:0.0	.	395	Q6TDP4	KLH17_HUMAN	D	395;271;118	ENSP00000343930:G395D	ENSP00000343930:G395D	G	+	2	0	KLHL17	888493	1.000000	0.71417	1.000000	0.80357	0.869000	0.49853	9.234000	0.95347	2.608000	0.88229	0.448000	0.29417	GGC		0.672	KLHL17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097875.3	NM_198317		8	8	0	0	0	1	0	8	8					A	898630	G	A	898630	3	1	435	1	0	0	0	0	1	0	0	0	8372	1203	42	3	1210	3	KLHL17	1	898630	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08		898630	248351991	1	20926											
AGRN	375790	broad.mit.edu	37	chr1	981376	981376	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctgcgacctgtgcggagatgCgctgtgagttcggtgcgcgg	4	9	18	10	6	0	2	0	1	0	1	1	4	0	2	1	3	4	2	1	3	0	1	rs199593375		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:981376C>T	ENST00000379370.2	+	16	2763	c.2713C>T	c.(2713-2715)Cgc>Tgc	p.R905C		NM_198576.3	NP_940978.2	O00468	AGRIN_HUMAN	agrin	905					axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|clustering of voltage-gated sodium channels (GO:0045162)|extracellular matrix organization (GO:0030198)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|neuromuscular junction development (GO:0007528)|neurotransmitter receptor metabolic process (GO:0045213)|phototransduction, visible light (GO:0007603)|plasma membrane organization (GO:0007009)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of synaptic growth at neuromuscular junction (GO:0045887)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|receptor clustering (GO:0043113)|retinoid metabolic process (GO:0001523)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synapse organization (GO:0050808)	basal lamina (GO:0005605)|cell junction (GO:0030054)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)|synapse (GO:0045202)	acetylcholine receptor regulator activity (GO:0030548)|calcium ion binding (GO:0005509)|chondroitin sulfate binding (GO:0035374)|dystroglycan binding (GO:0002162)|heparan sulfate proteoglycan binding (GO:0043395)|laminin binding (GO:0043236)|sialic acid binding (GO:0033691)|structural constituent of cytoskeleton (GO:0005200)			breast(1)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	42	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00462)|Epithelial(90;5.98e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.43e-23)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000201)|Kidney(185;0.0024)|BRCA - Breast invasive adenocarcinoma(365;0.00246)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0354)|Lung(427;0.201)		TGCGGAGATGCGCTGTGAGTT	0.667																																						ENST00000379370.2																			0				breast(1)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	42						c.(2713-2715)Cgc>Tgc		agrin		C	CYS/ARG	0,4406		0,0,2203	109	108	109		2713	4.5	0.5	1		109	4,8596	3.7+/-12.6	0,4,4296	yes	missense	AGRN	NM_198576.3	180	0,4,6499	TT,TC,CC		0.0465,0.0,0.0308	possibly-damaging	905/2046	981376	4,13002	2203	4300	6503	SO:0001583	missense	375790				axon guidance|clustering of voltage-gated sodium channels|muscarinic acetylcholine receptor signaling pathway|receptor clustering	basal lamina	laminin binding|structural constituent of cytoskeleton	g.chr1:981376C>T	XM_372195	CCDS30551.1	1p36.33	2014-09-17		2007-02-16	ENSG00000188157	ENSG00000188157		"Proteoglycans / Extracellular Matrix : Other"	329	protein-coding gene	gene with protein product	"agrin proteoglycan"	103320				1851019, 12270958	Standard	NM_198576		Approved	AGRIN	uc001ack.2	O00468	OTTHUMG00000040778	ENST00000379370.2:c.2713C>T	1.37:g.981376C>T	ENSP00000368678:p.Arg905Cys						p.R905C	NM_198576.3	NP_940978.2	O00468	AGRIN_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (11;0.00462)|Epithelial(90;5.98e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.43e-23)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000201)|Kidney(185;0.0024)|BRCA - Breast invasive adenocarcinoma(365;0.00246)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0354)|Lung(427;0.201)	16	2763	+	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)	905					Q5SVA1|Q5SVA2|Q60FE1|Q7KYS8|Q8N4J5|Q96IC1|Q9BTD4	Missense_Mutation	SNP	ENST00000379370.2	37	c.2713C>T	CCDS30551.1	.	.	.	.	.	.	.	.	.	.	C	12.11	1.840968	0.32513	0.0	4.65E-4	ENSG00000188157	ENST00000379370	T	0.75477	-0.94	5.46	4.48	0.54585	Follistatin-like, N-terminal (1);	1.580420	0.03998	N	0.296062	T	0.76997	0.4066	M	0.62088	1.915	0.19300	N	0.999976	P	0.46395	0.877	P	0.46339	0.513	T	0.63296	-0.6669	10	0.52906	T	0.07	-6.1372	7.4064	0.26993	0.2845:0.5836:0.1319:0.0	.	905	O00468	AGRIN_HUMAN	C	905	ENSP00000368678:R905C	ENSP00000368678:R905C	R	+	1	0	AGRN	971239	0.070000	0.21116	0.511000	0.27724	0.022000	0.10575	0.326000	0.19646	2.548000	0.85928	0.655000	0.94253	CGC		0.667	AGRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097990.2	NM_198576		8	28	0	0	0	1	0	8	28					T	981376	C	T	981376	3	4	435	1	0	0	0	0	1	0	0	0	397	768	27	1	2775	1	AGRN	1	981376	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	82746	981376	248269245	2	20927											
AGRN	375790	broad.mit.edu	37	chr1	985923	985923	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcgctggcactgcgggaccGccgcctggagttccgctacg	4	7	15	15	6	0	0	0	0	0	0	2	2	1	2	4	3	2	4	4	3	1	2	rs551658645		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:985923G>A	ENST00000379370.2	+	29	5143	c.5093G>A	c.(5092-5094)cGc>cAc	p.R1698H		NM_198576.3	NP_940978.2	O00468	AGRIN_HUMAN	agrin	1698	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.		R -> P. {ECO:0000269|PubMed:19631309}.		axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|clustering of voltage-gated sodium channels (GO:0045162)|extracellular matrix organization (GO:0030198)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|neuromuscular junction development (GO:0007528)|neurotransmitter receptor metabolic process (GO:0045213)|phototransduction, visible light (GO:0007603)|plasma membrane organization (GO:0007009)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of synaptic growth at neuromuscular junction (GO:0045887)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|receptor clustering (GO:0043113)|retinoid metabolic process (GO:0001523)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synapse organization (GO:0050808)	basal lamina (GO:0005605)|cell junction (GO:0030054)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)|synapse (GO:0045202)	acetylcholine receptor regulator activity (GO:0030548)|calcium ion binding (GO:0005509)|chondroitin sulfate binding (GO:0035374)|dystroglycan binding (GO:0002162)|heparan sulfate proteoglycan binding (GO:0043395)|laminin binding (GO:0043236)|sialic acid binding (GO:0033691)|structural constituent of cytoskeleton (GO:0005200)			breast(1)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	42	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00462)|Epithelial(90;5.98e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.43e-23)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000201)|Kidney(185;0.0024)|BRCA - Breast invasive adenocarcinoma(365;0.00246)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0354)|Lung(427;0.201)		CTGCGGGACCGCCGCCTGGAG	0.716																																						ENST00000379370.2																			0				breast(1)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	42						c.(5092-5094)cGc>cAc		agrin							35	44	41					1																	985923		2203	4298	6501	SO:0001583	missense	375790				axon guidance|clustering of voltage-gated sodium channels|muscarinic acetylcholine receptor signaling pathway|receptor clustering	basal lamina	laminin binding|structural constituent of cytoskeleton	g.chr1:985923G>A	XM_372195	CCDS30551.1	1p36.33	2014-09-17		2007-02-16	ENSG00000188157	ENSG00000188157		"Proteoglycans / Extracellular Matrix : Other"	329	protein-coding gene	gene with protein product	"agrin proteoglycan"	103320				1851019, 12270958	Standard	NM_198576		Approved	AGRIN	uc001ack.2	O00468	OTTHUMG00000040778	ENST00000379370.2:c.5093G>A	1.37:g.985923G>A	ENSP00000368678:p.Arg1698His						p.R1698H	NM_198576.3	NP_940978.2	O00468	AGRIN_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (11;0.00462)|Epithelial(90;5.98e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.43e-23)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000201)|Kidney(185;0.0024)|BRCA - Breast invasive adenocarcinoma(365;0.00246)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0354)|Lung(427;0.201)	29	5143	+	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)	1698			Laminin G-like 2.		Q5SVA1|Q5SVA2|Q60FE1|Q7KYS8|Q8N4J5|Q96IC1|Q9BTD4	Missense_Mutation	SNP	ENST00000379370.2	37	c.5093G>A	CCDS30551.1	.	.	.	.	.	.	.	.	.	.	G	11.31	1.601032	0.28534	.	.	ENSG00000188157	ENST00000379370;ENST00000379364	T	0.75821	-0.97	4.45	2.57	0.30868	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 1 (1);	0.191381	0.31760	U	0.007117	T	0.63355	0.2504	L	0.41492	1.28	0.21527	N	0.999657	B	0.20052	0.041	B	0.08055	0.003	T	0.56189	-0.8020	10	0.59425	D	0.04	-5.3363	10.2353	0.43280	0.1631:0.0:0.8369:0.0	.	1698	O00468	AGRIN_HUMAN	H	1698;37	ENSP00000368678:R1698H	ENSP00000368671:R37H	R	+	2	0	AGRN	975786	0.885000	0.30320	0.000000	0.03702	0.213000	0.24496	2.525000	0.45598	0.352000	0.24053	0.299000	0.19835	CGC		0.716	AGRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097990.2	NM_198576		21	29	0	0	0	1	0	21	29					A	985923	G	A	985923	3	1	435	1	0	0	0	0	1	0	0	0	397	1087	38	1	5207	1	AGRN	1	985923	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	4547	985923	248264698	3	20928											
TTLL10	254173	broad.mit.edu	37	chr1	1118412	1118412	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccgttccgggggcctcaggCgcgggtggtgcagaggtgcg	3	6	21	11	5	1	1	1	0	0	1	2	1	2	1	3	6	2	2	3	6	0	1	rs569439420	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:1118412C>T	ENST00000379290.1	+	11	1246	c.1073C>T	c.(1072-1074)gCg>gTg	p.A358V	TTLL10_ENST00000379289.1_Missense_Mutation_p.A358V|TTLL10_ENST00000379288.3_Missense_Mutation_p.A285V			Q6ZVT0	TTL10_HUMAN	tubulin tyrosine ligase-like family, member 10	358	TTL. {ECO:0000255|PROSITE- ProRule:PRU00568}.				cellular protein modification process (GO:0006464)					haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(2)|skin(1)	7	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;4.75e-36)|OV - Ovarian serous cystadenocarcinoma(86;5.82e-22)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;4.22e-05)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		GGGCCTCAGGCGCGGGTGGTG	0.726													c|||	4	0.000798722	0	0	5008	,	,		12856	0		0	False		,,,				2504	0.0041					ENST00000379290.1																			0				haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(2)|skin(1)	7						c.(1072-1074)gCg>gTg		tubulin tyrosine ligase-like family, member 10							16	15	15					1																	1118412		2186	4293	6479	SO:0001583	missense	254173				protein modification process		ATP binding|tubulin-tyrosine ligase activity	g.chr1:1118412C>T	AK093438	CCDS8.1, CCDS44036.1	1p36.33	2014-01-28	2005-07-29	2005-07-29	ENSG00000162571	ENSG00000162571		"Tubulin tyrosine ligase-like family"	26693	protein-coding gene	gene with protein product			"tubulin tyrosine ligase-like family, member 5"	TTLL5		15890843	Standard	NM_153254		Approved	FLJ36119	uc001acy.2	Q6ZVT0	OTTHUMG00000000851	ENST00000379290.1:c.1073C>T	1.37:g.1118412C>T	ENSP00000368592:p.Ala358Val					TTLL10_ENST00000379288.3_Missense_Mutation_p.A285V|TTLL10_ENST00000379289.1_Missense_Mutation_p.A358V	p.A358V			Q6ZVT0	TTL10_HUMAN		Epithelial(90;4.75e-36)|OV - Ovarian serous cystadenocarcinoma(86;5.82e-22)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;4.22e-05)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)	11	1246	+	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)	358			TTL.		B1AMF6|Q5T2W4|Q5T2W5|Q8N9X2	Missense_Mutation	SNP	ENST00000379290.1	37	c.1073C>T	CCDS44036.1	.	.	.	.	.	.	.	.	.	.	C	16.87	3.242002	0.58995	.	.	ENSG00000162571	ENST00000379290;ENST00000379289;ENST00000379288	T;T;T	0.05580	3.42;3.42;3.42	3.9	3.9	0.45041	.	0.836237	0.10177	U	0.706377	T	0.16811	0.0404	M	0.66378	2.025	0.41370	D	0.987485	D;D	0.65815	0.994;0.995	P;P	0.55455	0.752;0.776	T	0.02437	-1.1159	10	0.33141	T	0.24	.	11.2456	0.48996	0.0:1.0:0.0:0.0	.	285;358	Q6ZVT0-3;Q6ZVT0	.;TTL10_HUMAN	V	358;358;285	ENSP00000368592:A358V;ENSP00000368591:A358V;ENSP00000368590:A285V	ENSP00000368590:A285V	A	+	2	0	TTLL10	1108275	1.000000	0.71417	0.989000	0.46669	0.111000	0.19643	5.094000	0.64523	2.004000	0.58718	0.486000	0.48141	GCG		0.726	TTLL10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000002421.3	NM_153254		9	11	0	0	0	1	0	9	11					T	1118412	C	T	1118412	3	4	435	1	0	0	0	0	1	0	0	0	16720	768	27	1	1103	1	TTLL10	1	1118412	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	132489	1118412	248132209	4	20929											
FAM132A	388581	broad.mit.edu	37	chr1	1179365	1179365	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	catgcagctccaccagcgtcCgcttgtccacccggcgggga	6	6	12	17	4	0	0	0	0	0	0	3	1	3	1	5	3	3	3	5	3	0	1	rs200792498		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:1179365C>T	ENST00000330388.2	-	4	531	c.500G>A	c.(499-501)cGg>cAg	p.R167Q		NM_001014980.2	NP_001014980.1	Q5T7M4	ADIPL_HUMAN	family with sequence similarity 132, member A	167	C1q. {ECO:0000255|PROSITE- ProRule:PRU00368}.				negative regulation of gluconeogenesis (GO:0045721)|negative regulation of inflammatory response (GO:0050728)|positive regulation of glucose import (GO:0046326)|positive regulation of insulin receptor signaling pathway (GO:0046628)|positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0035774)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of glucose import (GO:0046324)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	hormone activity (GO:0005179)			haematopoietic_and_lymphoid_tissue(1)|lung(1)	2	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;2.83e-35)|OV - Ovarian serous cystadenocarcinoma(86;2.22e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		CACCAGCGTCCGCTTGTCCAC	0.701													C|||	1	0.000199681	0	0.0014	5008	,	,		11185	0		0	False		,,,				2504	0					ENST00000330388.2																			0				haematopoietic_and_lymphoid_tissue(1)|lung(1)	2						c.(499-501)cGg>cAg		family with sequence similarity 132, member A							7	10	9					1																	1179365		2109	4231	6340	SO:0001583	missense	388581					extracellular region		g.chr1:1179365C>T	BC089443	CCDS30554.1	1p36.33	2012-03-26	2007-03-27	2007-03-27	ENSG00000184163	ENSG00000184163			32308	protein-coding gene	gene with protein product	"adipolin", "adipose-derived insulin-sensitizing factor"		"C1q domain containing 2"	C1QDC2		21849507	Standard	NM_001014980		Approved	MGC105127, C1QTNF12, CTRP12	uc001adl.2	Q5T7M4	OTTHUMG00000001412	ENST00000330388.2:c.500G>A	1.37:g.1179365C>T	ENSP00000329137:p.Arg167Gln						p.R167Q	NM_001014980.2	NP_001014980.1	Q5T7M4	F132A_HUMAN		Epithelial(90;2.83e-35)|OV - Ovarian serous cystadenocarcinoma(86;2.22e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)	4	531	-	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)	167					Q5EBL5	Missense_Mutation	SNP	ENST00000330388.2	37	c.500G>A	CCDS30554.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	c	13.83	2.353261	0.41700	.	.	ENSG00000184163	ENST00000330388	T	0.43294	0.95	4.03	-6.22	0.02058	Tumour necrosis factor-like (1);	0.201745	0.39909	N	0.001225	T	0.18964	0.0455	L	0.38175	1.15	0.24866	N	0.99232	P	0.46327	0.876	B	0.31495	0.131	T	0.20571	-1.0271	10	0.66056	D	0.02	-5.7071	6.822	0.23862	0.1497:0.5438:0.0:0.3065	.	167	Q5T7M4	F132A_HUMAN	Q	167	ENSP00000329137:R167Q	ENSP00000329137:R167Q	R	-	2	0	FAM132A	1169228	0.877000	0.30153	0.757000	0.31301	0.081000	0.17604	-0.195000	0.09546	-1.326000	0.02266	-0.332000	0.08345	CGG		0.701	FAM132A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004080.4	XM_371208		3	5	0	0	0	1	0	3	5					T	1179365	C	T	1179365	3	4	435	1	0	0	0	0	1	0	0	0	5442	652	23	2	428	2	FAM132A	1	1179365	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	60953	1179365	248071256	5	20930											
TAS1R3	83756	broad.mit.edu	37	chr1	1267214	1267214	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgacatcgccgcctactgcAactacacgcagtaccagccc	10	5	8	18	4	0	0	0	0	0	0	1	1	0	0	4	0	6	3	4	0	4	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:1267214A>G	ENST00000339381.5	+	2	420	c.388A>G	c.(388-390)Aac>Gac	p.N130D		NM_152228.1	NP_689414	Q7RTX0	TS1R3_HUMAN	taste receptor, type 1, member 3	130					detection of chemical stimulus involved in sensory perception of sweet taste (GO:0001582)|G-protein coupled receptor signaling pathway (GO:0007186)|sensory perception of sweet taste (GO:0050916)|sensory perception of umami taste (GO:0050917)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein heterodimerization activity (GO:0046982)|taste receptor activity (GO:0008527)			kidney(2)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1)	12	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;3.01e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.88e-21)|Colorectal(212;0.000157)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00251)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.146)		CGCCTACTGCAACTACACGCA	0.617																																						ENST00000339381.5																			0				kidney(2)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						c.(388-390)Aac>Gac		taste receptor, type 1, member 3	Aspartame(DB00168)						48	51	50					1																	1267214		2201	4295	6496	SO:0001583	missense	83756				detection of chemical stimulus involved in sensory perception of sweet taste|sensory perception of umami taste	plasma membrane	protein heterodimerization activity|taste receptor activity	g.chr1:1267214A>G	AC026283	CCDS30556.1	1p36	2012-08-22			ENSG00000169962	ENSG00000169962		"Taste receptors / Type 1", "GPCR / Unclassified : Taste receptors"	15661	protein-coding gene	gene with protein product		605865				11319557	Standard	XM_006710939		Approved	T1R3	uc010nyk.2	Q7RTX0	OTTHUMG00000003071	ENST00000339381.5:c.388A>G	1.37:g.1267214A>G	ENSP00000344411:p.Asn130Asp						p.N130D	NM_152228.1	NP_689414.1	Q7RTX0	TS1R3_HUMAN		Epithelial(90;3.01e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.88e-21)|Colorectal(212;0.000157)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00251)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.146)	2	420	+	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)	130					Q5TA49|Q8NGW9	Missense_Mutation	SNP	ENST00000339381.5	37	c.388A>G	CCDS30556.1	.	.	.	.	.	.	.	.	.	.	A	8.907	0.957788	0.18507	.	.	ENSG00000169962	ENST00000339381	D	0.82526	-1.62	4.89	-0.289	0.12851	Extracellular ligand-binding receptor (1);	0.077300	0.48767	N	0.000167	T	0.70552	0.3237	L	0.29908	0.895	0.32500	N	0.539025	B	0.21225	0.053	B	0.27796	0.083	T	0.62310	-0.6881	10	0.42905	T	0.14	.	7.5913	0.28023	0.4599:0.1169:0.4232:0.0	.	130	Q7RTX0	TS1R3_HUMAN	D	130	ENSP00000344411:N130D	ENSP00000344411:N130D	N	+	1	0	TAS1R3	1257077	0.942000	0.31987	0.470000	0.27216	0.086000	0.17979	2.031000	0.41117	-0.298000	0.08921	-0.464000	0.05259	AAC		0.617	TAS1R3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008493.1			9	13	0	0	0	1	0	9	13					G	1267214	A	G	1267214	3	3	435	1	0	0	0	0	1	0	0	0	15561	130	5	4	394	4	TAS1R3	1	1267214	Missense_Mutation	SNP	A	TCGA-XK-AAIW-01A-11D-A41K-08	87849	1267214	247983407	6	20931											
ATAD3C	219293	broad.mit.edu	37	chr1	1387776	1387776	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttgtttggggaaggattcCgtgcctttgtgacagaccgg	6	12	14	9	2	0	2	0	1	0	1	1	4	1	4	4	4	1	1	4	4	1	4	rs144852834	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:1387776C>T	ENST00000378785.2	+	3	1179	c.184C>T	c.(184-186)Cgt>Tgt	p.R62C		NM_001039211.2	NP_001034300.2	Q5T2N8	ATD3C_HUMAN	ATPase family, AAA domain containing 3C	62							ATP binding (GO:0005524)			autonomic_ganglia(1)|endometrium(1)|kidney(1)|lung(4)	7	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		GGAAGGATTCCGTGCCTTTGT	0.577													N|||	30	0.00599042	0.0227	0	5008	,	,		20450	0		0	False		,,,				2504	0					ENST00000378785.2																			0				autonomic_ganglia(1)|endometrium(1)|kidney(1)|lung(4)	7						c.(184-186)Cgt>Tgt		ATPase family, AAA domain containing 3C		C	CYS/ARG	26,1358		0,26,666	135	117	123		184	2.5	1	1	dbSNP_134	123	0,3182		0,0,1591	no	missense	ATAD3C	NM_001039211.2	180	0,26,2257	TT,TC,CC		0.0,1.8786,0.5694	probably-damaging	62/412	1387776	26,4540	692	1591	2283	SO:0001583	missense	219293						ATP binding|nucleoside-triphosphatase activity	g.chr1:1387776C>T	AK091918	CCDS44039.1	1p36.33	2010-04-21		2007-02-08	ENSG00000215915	ENSG00000215915		"ATPases / AAA-type"	32151	protein-coding gene	gene with protein product							Standard	NM_001039211		Approved	FLJ34599	uc001aft.2	Q5T2N8	OTTHUMG00000000531	ENST00000378785.2:c.184C>T	1.37:g.1387776C>T	ENSP00000368062:p.Arg62Cys						p.R62C	NM_001039211.2	NP_001034300.2	Q5T2N8	ATD3C_HUMAN		Epithelial(90;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)	3	1179	+	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)	62					Q8N1Z5	Missense_Mutation	SNP	ENST00000378785.2	37	c.184C>T	CCDS44039.1	13	0.005952380952380952	13	0.026422764227642278	0	0.0	0	0.0	0	0.0	.	2.682	-0.275143	0.05679	0.018786	0.0	ENSG00000215915	ENST00000378785	D	0.94687	-3.49	2.48	2.48	0.30137	ATPase family AAA domain-containing protein 3, domain of unknown function DUF3523 (1);	0.056521	0.64402	N	0.000002	T	0.81123	0.4757	L	0.48877	1.53	0.58432	D	0.999996	B	0.28419	0.211	B	0.27608	0.081	D	0.85319	0.1083	10	0.87932	D	0	.	11.9955	0.53201	0.0:1.0:0.0:0.0	.	62	Q5T2N8	ATD3C_HUMAN	C	62	ENSP00000368062:R62C	ENSP00000368062:R62C	R	+	1	0	ATAD3C	1377639	1.000000	0.71417	0.998000	0.56505	0.104000	0.19210	4.423000	0.59861	1.224000	0.43551	0.194000	0.17425	CGT		0.577	ATAD3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001279.3	NM_001039211		25	117	0	0	0	1	0	25	117					T	1387776	C	T	1387776	3	4	435	1	0	0	0	0	1	0	0	0	1075	652	23	2	194	2	ATAD3C	1	1387776	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	120562	1387776	247862845	7	20932											
ATAD3C	219293	broad.mit.edu	37	chr1	1389861	1389861	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgcatcacggtgcttgaggCgctgcggcaccccatccagg	6	6	13	16	4	1	1	1	1	0	0	2	1	2	1	4	4	2	4	4	4	0	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:1389861C>T	ENST00000378785.2	+	4	1354	c.359C>T	c.(358-360)gCg>gTg	p.A120V		NM_001039211.2	NP_001034300.2	Q5T2N8	ATD3C_HUMAN	ATPase family, AAA domain containing 3C	120							ATP binding (GO:0005524)			autonomic_ganglia(1)|endometrium(1)|kidney(1)|lung(4)	7	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		GTGCTTGAGGCGCTGCGGCAC	0.662																																						ENST00000378785.2																			0				autonomic_ganglia(1)|endometrium(1)|kidney(1)|lung(4)	7						c.(358-360)gCg>gTg		ATPase family, AAA domain containing 3C							23	37	32					1																	1389861		692	1591	2283	SO:0001583	missense	219293						ATP binding|nucleoside-triphosphatase activity	g.chr1:1389861C>T	AK091918	CCDS44039.1	1p36.33	2010-04-21		2007-02-08	ENSG00000215915	ENSG00000215915		"ATPases / AAA-type"	32151	protein-coding gene	gene with protein product							Standard	NM_001039211		Approved	FLJ34599	uc001aft.2	Q5T2N8	OTTHUMG00000000531	ENST00000378785.2:c.359C>T	1.37:g.1389861C>T	ENSP00000368062:p.Ala120Val						p.A120V	NM_001039211.2	NP_001034300.2	Q5T2N8	ATD3C_HUMAN		Epithelial(90;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)	4	1354	+	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)	120					Q8N1Z5	Missense_Mutation	SNP	ENST00000378785.2	37	c.359C>T	CCDS44039.1	.	.	.	.	.	.	.	.	.	.	.	9.917	1.211003	0.22289	.	.	ENSG00000215915	ENST00000378785	D	0.94232	-3.38	2.51	2.51	0.30379	.	0.175564	0.51477	D	0.000098	D	0.89399	0.6704	M	0.64630	1.985	0.58432	D	0.999996	B	0.28801	0.223	B	0.17098	0.017	D	0.85660	0.1288	10	0.29301	T	0.29	.	10.1382	0.42719	0.0:1.0:0.0:0.0	.	120	Q5T2N8	ATD3C_HUMAN	V	120	ENSP00000368062:A120V	ENSP00000368062:A120V	A	+	2	0	ATAD3C	1379724	1.000000	0.71417	0.802000	0.32245	0.066000	0.16364	4.897000	0.63231	1.224000	0.43551	0.195000	0.17529	GCG		0.662	ATAD3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001279.3	NM_001039211		4	8	0	0	0	1	0	4	8					T	1389861	C	T	1389861	3	4	435	1	0	0	0	0	1	0	0	0	1075	768	27	1	373	1	ATAD3C	1	1389861	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	2085	1389861	247860760	8	20933											
ATAD3B	83858	broad.mit.edu	37	chr1	1421968	1421968	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gactacgccatcatgacaggCggggacgtggcccccatggg	8	5	15	13	3	1	1	1	1	0	0	1	3	1	2	3	5	1	0	3	5	1	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:1421968C>T	ENST00000308647.7	+	11	1250	c.1134C>T	c.(1132-1134)ggC>ggT	p.G378G		NM_031921.4	NP_114127.3	Q5T9A4	ATD3B_HUMAN	ATPase family, AAA domain containing 3B	378						mitochondrial inner membrane (GO:0005743)	ATP binding (GO:0005524)			endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(2)|urinary_tract(1)	10	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		TCATGACAGGCGGGGACGTGG	0.617																																						ENST00000308647.7																			0				endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(2)|urinary_tract(1)	10						c.(1132-1134)ggC>ggT		ATPase family, AAA domain containing 3B							30	29	30					1																	1421968		2183	4253	6436	SO:0001819	synonymous_variant	83858						ATP binding|nucleoside-triphosphatase activity	g.chr1:1421968C>T	AL834179	CCDS30.1	1p36.33	2010-04-21		2007-02-08	ENSG00000160072	ENSG00000160072		"ATPases / AAA-type"	24007	protein-coding gene	gene with protein product		612317				10574462	Standard	XM_005244806		Approved	TOB3, KIAA1273	uc001afv.3	Q5T9A4	OTTHUMG00000000577	ENST00000308647.7:c.1134C>T	1.37:g.1421968C>T							p.G378G	NM_031921.4	NP_114127.3	Q5T9A4	ATD3B_HUMAN		Epithelial(90;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)	11	1250	+	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)	378					A8K3H1|Q6ZRB5|Q9BUK4|Q9ULE7	Silent	SNP	ENST00000308647.7	37	c.1134C>T	CCDS30.1																																																																																				0.617	ATAD3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001369.2	NM_031921		6	20	0	0	0	1	0	6	20					T	1421968	C	T	1421968	2	4	435	1	0	0	0	0	0	0	0	1	1074	755	27	1		1	ATAD3B	1	1421968	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	32107	1421968	247828653	9	20934											
ATAD3A	55210	broad.mit.edu	37	chr1	1459697	1459697	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gactacgccatcatgacaggCggggacgtggcccccatggg	8	5	15	13	3	1	1	1	1	0	0	1	3	1	2	3	5	1	0	3	5	1	1	rs150316055		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:1459697C>T	ENST00000378755.5	+	11	1372	c.1278C>T	c.(1276-1278)ggC>ggT	p.G426G	ATAD3A_ENST00000536055.1_Silent_p.G299G|ATAD3A_ENST00000378756.3_Silent_p.G378G	NM_018188.3	NP_060658.3	Q9NVI7	ATD3A_HUMAN	ATPase family, AAA domain containing 3A	426					cell growth (GO:0016049)|negative regulation of apoptotic process (GO:0043066)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)			endometrium(4)|kidney(6)|large_intestine(1)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	20	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;1.12e-36)|OV - Ovarian serous cystadenocarcinoma(86;2.18e-22)|Colorectal(212;0.000164)|COAD - Colon adenocarcinoma(227;0.000195)|Kidney(185;0.00233)|BRCA - Breast invasive adenocarcinoma(365;0.00469)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0347)|Lung(427;0.147)		TCATGACAGGCGGGGACGTGG	0.632													c|||	1	0.000199681	0	0.0014	5008	,	,		22007	0		0	False		,,,				2504	0					ENST00000378755.5																			0				endometrium(4)|kidney(6)|large_intestine(1)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	20						c.(1276-1278)ggC>ggT		ATPase family, AAA domain containing 3A		C	,,	0,4404		0,0,2202	77	60	66		1134,897,1278	-5.8	1	1	dbSNP_134	66	2,8590	2.2+/-6.3	0,2,4294	no	coding-synonymous,coding-synonymous,coding-synonymous	ATAD3A	NM_001170535.1,NM_001170536.1,NM_018188.3	,,	0,2,6496	TT,TC,CC		0.0233,0.0,0.0154	,,	378/587,299/508,426/635	1459697	2,12994	2202	4296	6498	SO:0001819	synonymous_variant	55210						ATP binding|nucleoside-triphosphatase activity|protein binding	g.chr1:1459697C>T	AK025865	CCDS31.1, CCDS53259.1, CCDS53260.1	1p36.33	2010-04-21		2007-02-08	ENSG00000197785	ENSG00000197785		"ATPases / AAA-type"	25567	protein-coding gene	gene with protein product		612316				12477932	Standard	NM_018188		Approved	FLJ10709	uc001afz.2	Q9NVI7	OTTHUMG00000000575	ENST00000378755.5:c.1278C>T	1.37:g.1459697C>T						ATAD3A_ENST00000536055.1_Silent_p.G299G|ATAD3A_ENST00000378756.3_Silent_p.G378G	p.G426G	NM_018188.3	NP_060658.3	Q9NVI7	ATD3A_HUMAN		Epithelial(90;1.12e-36)|OV - Ovarian serous cystadenocarcinoma(86;2.18e-22)|Colorectal(212;0.000164)|COAD - Colon adenocarcinoma(227;0.000195)|Kidney(185;0.00233)|BRCA - Breast invasive adenocarcinoma(365;0.00469)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0347)|Lung(427;0.147)	11	1372	+	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)	426					B3KPB3|D2K8Q1|G3V1I6|Q5SV23|Q8N275|Q96A50	Silent	SNP	ENST00000378755.5	37	c.1278C>T	CCDS31.1	.	.	.	.	.	.	.	.	.	.	c	9.263	1.043590	0.19748	0.0	2.33E-4	ENSG00000197785	ENST00000339113	.	.	.	4.94	-5.82	0.02333	.	.	.	.	.	T	0.38612	0.1047	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.42865	-0.9426	4	.	.	.	.	3.2976	0.06971	0.1923:0.1463:0.1027:0.5588	.	.	.	.	W	364	.	.	R	+	1	2	ATAD3A	1449560	0.003000	0.15002	0.953000	0.39169	0.800000	0.45204	-1.305000	0.02738	-0.674000	0.05253	-0.265000	0.10407	CGG		0.632	ATAD3A-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000001365.1	NM_018188		5	45	0	0	0	1	0	5	45					T	1459697	C	T	1459697	2	4	435	1	0	0	0	0	0	0	0	1	1073	755	27	1		1	ATAD3A	1	1459697	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	37729	1459697	247790924	10	20935											
ATAD3A	55210	broad.mit.edu	37	chr1	1469346	1469346	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ggacggggtcctgaccgaggCcatgatggacacccgcgtgc	7	5	16	13	4	0	2	0	2	0	0	1	5	1	4	4	5	1	0	4	5	0	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:1469346C>T	ENST00000378755.5	+	16	1893	c.1799C>T	c.(1798-1800)gCc>gTc	p.A600V	ATAD3A_ENST00000536055.1_Missense_Mutation_p.A473V|ATAD3A_ENST00000378756.3_Missense_Mutation_p.A552V	NM_018188.3	NP_060658.3	Q9NVI7	ATD3A_HUMAN	ATPase family, AAA domain containing 3A	600					cell growth (GO:0016049)|negative regulation of apoptotic process (GO:0043066)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)			endometrium(4)|kidney(6)|large_intestine(1)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	20	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;1.12e-36)|OV - Ovarian serous cystadenocarcinoma(86;2.18e-22)|Colorectal(212;0.000164)|COAD - Colon adenocarcinoma(227;0.000195)|Kidney(185;0.00233)|BRCA - Breast invasive adenocarcinoma(365;0.00469)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0347)|Lung(427;0.147)		CTGACCGAGGCCATGATGGAC	0.672																																						ENST00000378755.5																			0				endometrium(4)|kidney(6)|large_intestine(1)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	20						c.(1798-1800)gCc>gTc		ATPase family, AAA domain containing 3A							46	47	47					1																	1469346		2203	4298	6501	SO:0001583	missense	55210						ATP binding|nucleoside-triphosphatase activity|protein binding	g.chr1:1469346C>T	AK025865	CCDS31.1, CCDS53259.1, CCDS53260.1	1p36.33	2010-04-21		2007-02-08	ENSG00000197785	ENSG00000197785		"ATPases / AAA-type"	25567	protein-coding gene	gene with protein product		612316				12477932	Standard	NM_018188		Approved	FLJ10709	uc001afz.2	Q9NVI7	OTTHUMG00000000575	ENST00000378755.5:c.1799C>T	1.37:g.1469346C>T	ENSP00000368030:p.Ala600Val					ATAD3A_ENST00000536055.1_Missense_Mutation_p.A473V|ATAD3A_ENST00000378756.3_Missense_Mutation_p.A552V	p.A600V	NM_018188.3	NP_060658.3	Q9NVI7	ATD3A_HUMAN		Epithelial(90;1.12e-36)|OV - Ovarian serous cystadenocarcinoma(86;2.18e-22)|Colorectal(212;0.000164)|COAD - Colon adenocarcinoma(227;0.000195)|Kidney(185;0.00233)|BRCA - Breast invasive adenocarcinoma(365;0.00469)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0347)|Lung(427;0.147)	16	1893	+	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)	600					B3KPB3|D2K8Q1|G3V1I6|Q5SV23|Q8N275|Q96A50	Missense_Mutation	SNP	ENST00000378755.5	37	c.1799C>T	CCDS31.1	.	.	.	.	.	.	.	.	.	.	-	13.02	2.112446	0.37242	.	.	ENSG00000197785	ENST00000378756;ENST00000378755;ENST00000378759;ENST00000536055	T;T;T	0.79247	-1.25;-1.25;-1.25	4.0	3.06	0.35304	.	0.000000	0.85682	U	0.000000	T	0.69557	0.3124	M	0.69185	2.1	0.58432	D	0.999998	P;B	0.40794	0.729;0.042	B;B	0.33846	0.171;0.075	T	0.69877	-0.5026	10	0.31617	T	0.26	.	10.3958	0.44201	0.0:0.9016:0.0:0.0984	.	552;600	D2K8Q1;Q9NVI7	.;ATD3A_HUMAN	V	552;600;229;473	ENSP00000368031:A552V;ENSP00000368030:A600V;ENSP00000439290:A473V	ENSP00000368030:A600V	A	+	2	0	ATAD3A	1459209	1.000000	0.71417	1.000000	0.80357	0.556000	0.35491	4.474000	0.60203	1.964000	0.57103	0.478000	0.44815	GCC		0.672	ATAD3A-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000001365.1	NM_018188		22	31	0	0	0	1	0	22	31					T	1469346	C	T	1469346	3	4	435	1	0	0	0	0	1	0	0	0	1073	739	26	3	1861	3	ATAD3A	1	1469346	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	9649	1469346	247781275	11	20936											
SSU72	29101	broad.mit.edu	37	chr1	1479341	1479341	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaccacgtgcacaggctggcAggtctcctgttctctggaat	7	10	12	12	1	2	0	0	0	2	0	4	2	2	1	2	4	1	4	2	4	1	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:1479341A>G	ENST00000291386.3	-	4	702	c.391T>C	c.(391-393)Tgc>Cgc	p.C131R		NM_014188.2	NP_054907.1	Q9NP77	SSU72_HUMAN	SSU72 RNA polymerase II CTD phosphatase homolog (S. cerevisiae)	131					dephosphorylation of RNA polymerase II C-terminal domain (GO:0070940)|mRNA polyadenylation (GO:0006378)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	CTD phosphatase activity (GO:0008420)			large_intestine(2)|lung(5)	7	all_cancers(77;0.00125)|all_epithelial(69;0.000703)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;5.03e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;5.04e-37)|OV - Ovarian serous cystadenocarcinoma(86;3.72e-23)|GBM - Glioblastoma multiforme(42;1.2e-07)|Colorectal(212;0.000188)|COAD - Colon adenocarcinoma(227;0.000214)|Kidney(185;0.00254)|STAD - Stomach adenocarcinoma(132;0.00645)|BRCA - Breast invasive adenocarcinoma(365;0.00837)|KIRC - Kidney renal clear cell carcinoma(229;0.037)|Lung(427;0.205)		ACAGGCTGGCAGGTCTCCTGT	0.557																																						ENST00000291386.3																			0				large_intestine(2)|lung(5)	7						c.(391-393)Tgc>Cgc		SSU72 RNA polymerase II CTD phosphatase homolog (S. cerevisiae)							104	94	97					1																	1479341		2203	4300	6503	SO:0001583	missense	29101				mRNA processing	cytoplasm|nucleus	phosphoprotein phosphatase activity	g.chr1:1479341A>G	AJ276409	CCDS32.1	1p36	2010-03-24	2006-04-04		ENSG00000160075	ENSG00000160075			25016	protein-coding gene	gene with protein product			"Ssu72 RNA polymerase II CTD phosphatase homolog (yeast)"			15125841, 15659578	Standard	NM_014188		Approved	HSPC182	uc001agd.3	Q9NP77	OTTHUMG00000000576	ENST00000291386.3:c.391T>C	1.37:g.1479341A>G	ENSP00000291386:p.Cys131Arg						p.C131R	NM_014188.2	NP_054907.1	Q9NP77	SSU72_HUMAN		Epithelial(90;5.04e-37)|OV - Ovarian serous cystadenocarcinoma(86;3.72e-23)|GBM - Glioblastoma multiforme(42;1.2e-07)|Colorectal(212;0.000188)|COAD - Colon adenocarcinoma(227;0.000214)|Kidney(185;0.00254)|STAD - Stomach adenocarcinoma(132;0.00645)|BRCA - Breast invasive adenocarcinoma(365;0.00837)|KIRC - Kidney renal clear cell carcinoma(229;0.037)|Lung(427;0.205)	4	702	-	all_cancers(77;0.00125)|all_epithelial(69;0.000703)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;5.03e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)	131					Q9BZS6|Q9H933	Missense_Mutation	SNP	ENST00000291386.3	37	c.391T>C	CCDS32.1	.	.	.	.	.	.	.	.	.	.	A	9.522	1.108678	0.20714	.	.	ENSG00000160075	ENST00000291386;ENST00000378726	T	0.39406	1.08	4.75	4.75	0.60458	.	0.168037	0.53938	D	0.000055	T	0.39517	0.1081	L	0.35487	1.065	0.80722	D	1	P;P	0.41910	0.764;0.554	P;B	0.47075	0.536;0.241	T	0.11690	-1.0577	10	0.25106	T	0.35	-7.9583	13.0828	0.59123	1.0:0.0:0.0:0.0	.	131;131	B4DMK6;Q9NP77	.;SSU72_HUMAN	R	131;48	ENSP00000291386:C131R	ENSP00000291386:C131R	C	-	1	0	SSU72	1469204	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	4.922000	0.63404	1.784000	0.52394	0.533000	0.62120	TGC		0.557	SSU72-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001366.1	NM_014188		6	30	0	0	0	1	0	6	30					G	1479341	A	G	1479341	3	3	435	1	0	0	0	0	1	0	0	0	15201	188	7	4	201	4	SSU72	1	1479341	Missense_Mutation	SNP	A	TCGA-XK-AAIW-01A-11D-A41K-08	9995	1479341	247771280	12	20937											
MIB2	142678	broad.mit.edu	37	chr1	1562801	1562801	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccggacgacgagggcaacacGgcactgcactacgcggccct	9	3	13	16	6	0	0	0	0	0	0	0	3	0	1	2	4	3	3	2	4	2	1	rs543582613		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:1562801G>A	ENST00000357210.4	+	12	1890	c.1674G>A	c.(1672-1674)acG>acA	p.T558T	MIB2_ENST00000360522.4_Silent_p.T523T|MIB2_ENST00000378708.1_Silent_p.T464T|MIB2_ENST00000520777.1_Silent_p.T611T|MIB2_ENST00000505820.2_Silent_p.T615T|MIB2_ENST00000378710.3_Silent_p.T522T|MIB2_ENST00000355826.5_Silent_p.T601T|MIB2_ENST00000518681.1_Silent_p.T550T|MIB2_ENST00000504599.1_Silent_p.T514T|MIB2_ENST00000378712.1_Silent_p.T435T	NM_080875.2	NP_543151.2	Q96AX9	MIB2_HUMAN	mindbomb E3 ubiquitin protein ligase 2	558					Notch signaling pathway (GO:0007219)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)	early endosome (GO:0005769)|ubiquitin ligase complex (GO:0000151)	ligase activity (GO:0016874)|signal transducer activity (GO:0004871)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.T558T(1)		central_nervous_system(1)|endometrium(5)|lung(7)|prostate(4)|upper_aerodigestive_tract(1)	18	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;5.26e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.54e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|BRCA - Breast invasive adenocarcinoma(365;0.00786)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		AGGGCAACACGGCACTGCACT	0.736													.|||	1	0.000199681	0	0	5008	,	,		13683	0.001		0	False		,,,				2504	0					ENST00000357210.4																			1	Substitution - coding silent(1)	p.T558T(1)	upper_aerodigestive_tract(1)	central_nervous_system(1)|endometrium(5)|lung(7)|prostate(4)|upper_aerodigestive_tract(1)	18						c.(1672-1674)acG>acA		mindbomb E3 ubiquitin protein ligase 2							39	46	44					1																	1562801		2017	4160	6177	SO:0001819	synonymous_variant	142678				Notch signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade	endosome	actin binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding	g.chr1:1562801G>A	AK097106	CCDS41224.1, CCDS41224.2, CCDS53261.1, CCDS53262.1, CCDS53263.1, CCDS53264.1	1p36.33	2013-01-10	2012-02-23	2005-04-01	ENSG00000197530	ENSG00000197530		"Zinc fingers, ZZ-type", "Ankyrin repeat domain containing"	30577	protein-coding gene	gene with protein product		611141	"zinc finger, ZZ type with ankyrin repeat domain 1", "mindbomb homolog 2 (Drosophila)"	ZZANK1		12761501	Standard	NM_080875		Approved	skeletrophin, ZZZ5, FLJ39787	uc001agg.3	Q96AX9	OTTHUMG00000074647	ENST00000357210.4:c.1674G>A	1.37:g.1562801G>A						MIB2_ENST00000504599.1_Silent_p.T514T|MIB2_ENST00000378712.1_Silent_p.T435T|MIB2_ENST00000520777.1_Silent_p.T611T|MIB2_ENST00000360522.4_Silent_p.T523T|MIB2_ENST00000378708.1_Silent_p.T464T|MIB2_ENST00000505820.2_Silent_p.T615T|MIB2_ENST00000378710.3_Silent_p.T522T|MIB2_ENST00000518681.1_Silent_p.T550T|MIB2_ENST00000355826.5_Silent_p.T601T	p.T558T	NM_080875.2	NP_543151.2	Q96AX9	MIB2_HUMAN		Epithelial(90;5.26e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.54e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|BRCA - Breast invasive adenocarcinoma(365;0.00786)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)	12	1890	+	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)	558					A2AGM5|A2AGM6|B3KV93|B3KVF4|B3KXY1|B4DZ57|E9PGU1|E9PHQ1|F8WA73|J3KNZ7|Q7Z437|Q8IY62|Q8N786|Q8N897|Q8N8R2|Q8N911|Q8NB36|Q8NCY1|Q8NG59|Q8NG60|Q8NG61|Q8NI59|Q8WYN1	Silent	SNP	ENST00000357210.4	37	c.1674G>A		.	.	.	.	.	.	.	.	.	.	G	0.496	-0.873122	0.02570	.	.	ENSG00000197530	ENST00000514234	.	.	.	4.44	-8.88	0.00789	.	.	.	.	.	T	0.31544	0.0800	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.41627	-0.9498	4	.	.	.	-17.4196	0.4355	0.00478	0.2256:0.2541:0.2399:0.2804	.	.	.	.	S	374	.	.	G	+	1	0	MIB2	1552664	0.000000	0.05858	0.562000	0.28370	0.096000	0.18686	-3.435000	0.00472	-1.427000	0.01992	-1.872000	0.00552	GGC		0.736	MIB2-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_080875		18	23	0	0	0	1	0	18	23					A	1562801	G	A	1562801	2	1	435	1	0	0	0	0	0	0	0	1	9567	1103	39	2		2	MIB2	1	1562801	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	83460	1562801	247687820	13	20938											
MIB2	142678	broad.mit.edu	37	chr1	1563681	1563681	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaagattctggctcgggcgCggcagctggtggacgccaag	8	6	17	10	4	1	1	0	0	1	1	2	3	1	2	1	5	1	3	1	5	2	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:1563681C>T	ENST00000357210.4	+	15	2260	c.2044C>T	c.(2044-2046)Cgg>Tgg	p.R682W	MIB2_ENST00000360522.4_Missense_Mutation_p.R647W|MIB2_ENST00000378708.1_Missense_Mutation_p.R588W|MIB2_ENST00000520777.1_Missense_Mutation_p.R735W|MIB2_ENST00000505820.2_Missense_Mutation_p.R739W|MIB2_ENST00000378710.3_Missense_Mutation_p.R646W|MIB2_ENST00000355826.5_Missense_Mutation_p.R725W|MIB2_ENST00000518681.1_Missense_Mutation_p.R674W|MIB2_ENST00000504599.1_Missense_Mutation_p.R638W|MIB2_ENST00000378712.1_Missense_Mutation_p.R559W	NM_080875.2	NP_543151.2	Q96AX9	MIB2_HUMAN	mindbomb E3 ubiquitin protein ligase 2	682					Notch signaling pathway (GO:0007219)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)	early endosome (GO:0005769)|ubiquitin ligase complex (GO:0000151)	ligase activity (GO:0016874)|signal transducer activity (GO:0004871)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(5)|lung(7)|prostate(4)|upper_aerodigestive_tract(1)	18	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;5.26e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.54e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|BRCA - Breast invasive adenocarcinoma(365;0.00786)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		GGCTCGGGCGCGGCAGCTGGT	0.657																																						ENST00000357210.4																			0				central_nervous_system(1)|endometrium(5)|lung(7)|prostate(4)|upper_aerodigestive_tract(1)	18						c.(2044-2046)Cgg>Tgg		mindbomb E3 ubiquitin protein ligase 2							22	28	26					1																	1563681		2016	4186	6202	SO:0001583	missense	142678				Notch signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade	endosome	actin binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding	g.chr1:1563681C>T	AK097106	CCDS41224.1, CCDS41224.2, CCDS53261.1, CCDS53262.1, CCDS53263.1, CCDS53264.1	1p36.33	2013-01-10	2012-02-23	2005-04-01	ENSG00000197530	ENSG00000197530		"Zinc fingers, ZZ-type", "Ankyrin repeat domain containing"	30577	protein-coding gene	gene with protein product		611141	"zinc finger, ZZ type with ankyrin repeat domain 1", "mindbomb homolog 2 (Drosophila)"	ZZANK1		12761501	Standard	NM_080875		Approved	skeletrophin, ZZZ5, FLJ39787	uc001agg.3	Q96AX9	OTTHUMG00000074647	ENST00000357210.4:c.2044C>T	1.37:g.1563681C>T	ENSP00000349741:p.Arg682Trp					MIB2_ENST00000504599.1_Missense_Mutation_p.R638W|MIB2_ENST00000378712.1_Missense_Mutation_p.R559W|MIB2_ENST00000520777.1_Missense_Mutation_p.R735W|MIB2_ENST00000360522.4_Missense_Mutation_p.R647W|MIB2_ENST00000378708.1_Missense_Mutation_p.R588W|MIB2_ENST00000505820.2_Missense_Mutation_p.R739W|MIB2_ENST00000378710.3_Missense_Mutation_p.R646W|MIB2_ENST00000518681.1_Missense_Mutation_p.R674W|MIB2_ENST00000355826.5_Missense_Mutation_p.R725W	p.R682W	NM_080875.2	NP_543151.2	Q96AX9	MIB2_HUMAN		Epithelial(90;5.26e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.54e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|BRCA - Breast invasive adenocarcinoma(365;0.00786)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)	15	2260	+	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)	682					A2AGM5|A2AGM6|B3KV93|B3KVF4|B3KXY1|B4DZ57|E9PGU1|E9PHQ1|F8WA73|J3KNZ7|Q7Z437|Q8IY62|Q8N786|Q8N897|Q8N8R2|Q8N911|Q8NB36|Q8NCY1|Q8NG59|Q8NG60|Q8NG61|Q8NI59|Q8WYN1	Missense_Mutation	SNP	ENST00000357210.4	37	c.2044C>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.4|20.4	3.980867|3.980867	0.74474|0.74474	.|.	.|.	ENSG00000197530|ENSG00000197530	ENST00000514234|ENST00000520777;ENST00000357210;ENST00000360522;ENST00000378710;ENST00000355826;ENST00000518681;ENST00000505820;ENST00000378712;ENST00000504599;ENST00000378708	T|T;T;T;T;T;T;T;T;T;T	0.53857|0.65916	0.6|-0.18;-0.18;-0.18;-0.18;-0.18;-0.18;-0.18;-0.18;-0.18;-0.18	4.15|4.15	4.15|4.15	0.48705|0.48705	.|Ankyrin repeat-containing domain (3);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.71854|0.71854	0.3389|0.3389	L|L	0.51422|0.51422	1.61|1.61	0.58432|0.58432	D|D	0.999999|0.999999	.|D;D;D;D;D;D;D	.|0.89917	.|1.0;1.0;1.0;1.0;1.0;1.0;1.0	.|D;D;D;D;D;D;D	.|0.97110	.|1.0;1.0;0.996;1.0;1.0;1.0;1.0	T|T	0.74284|0.74284	-0.3715|-0.3715	7|10	0.38643|0.87932	T|D	0.18|0	-21.0205|-21.0205	10.9205|10.9205	0.47161|0.47161	0.1877:0.8123:0.0:0.0|0.1877:0.8123:0.0:0.0	.|.	.|647;588;559;674;735;668;682	.|Q96AX9-5;F2Z2L2;B3KXY1;E9PHQ1;E9PGU1;Q96AX9-2;Q96AX9	.|.;.;.;.;.;.;MIB2_HUMAN	V|W	497|735;682;647;646;725;674;739;559;638;588	ENSP00000427680:A497V|ENSP00000428660:R735W;ENSP00000349741:R682W;ENSP00000353713:R647W;ENSP00000367982:R646W;ENSP00000348081:R725W;ENSP00000428264:R674W;ENSP00000426103:R739W;ENSP00000367984:R559W;ENSP00000426128:R638W;ENSP00000367980:R588W	ENSP00000427680:A497V|ENSP00000348081:R725W	A|R	+|+	2|1	0|2	MIB2|MIB2	1553544|1553544	1.000000|1.000000	0.71417|0.71417	0.972000|0.972000	0.41901|0.41901	0.699000|0.699000	0.40488|0.40488	4.529000|4.529000	0.60588|0.60588	2.130000|2.130000	0.65690|0.65690	0.491000|0.491000	0.48974|0.48974	GCG|CGG		0.657	MIB2-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_080875		6	21	0	0	0	1	0	6	21					T	1563681	C	T	1563681	3	4	435	1	0	0	0	0	1	0	0	0	9567	759	27	1	2273	1	MIB2	1	1563681	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	880	1563681	247686940	14	20939											
PRKCZ	5590	broad.mit.edu	37	chr1	2116391	2116391	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aagaggatcgaccagtcagaGttcgaaggctttgagtatat	13	10	12	6	2	1	3	1	1	0	2	3	6	1	4	1	2	0	3	1	2	4	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:2116391G>A	ENST00000400921.2	+	15	1856	c.1173G>A	c.(1171-1173)gaG>gaA	p.E391E	PRKCZ_ENST00000479263.1_3'UTR|RP11-181G12.2_ENST00000444529.1_RNA|RP11-181G12.2_ENST00000536678.1_RNA|RP11-181G12.2_ENST00000333854.2_RNA|PRKCZ_ENST00000400920.1_Silent_p.E391E|C1orf86_ENST00000400919.3_3'UTR	NM_001033581.1	NP_001028753.1	Q05513	KPCZ_HUMAN	protein kinase C, zeta	574	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				actin cytoskeleton reorganization (GO:0031532)|activation of phospholipase D activity (GO:0031584)|activation of protein kinase B activity (GO:0032148)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|establishment of cell polarity (GO:0030010)|inflammatory response (GO:0006954)|insulin receptor signaling pathway (GO:0008286)|long-term memory (GO:0007616)|long-term synaptic potentiation (GO:0060291)|membrane hyperpolarization (GO:0060081)|microtubule cytoskeleton organization (GO:0000226)|negative regulation of apoptotic process (GO:0043066)|negative regulation of hydrolase activity (GO:0051346)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of peptidyl-tyrosine phosphorylation (GO:0050732)|negative regulation of protein complex assembly (GO:0031333)|neuron projection extension (GO:1990138)|peptidyl-serine phosphorylation (GO:0018105)|platelet activation (GO:0030168)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of glucose import (GO:0046326)|positive regulation of insulin receptor signaling pathway (GO:0046628)|positive regulation of interleukin-10 secretion (GO:2001181)|positive regulation of interleukin-13 secretion (GO:2000667)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of interleukin-5 secretion (GO:2000664)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of T-helper 2 cell cytokine production (GO:2000553)|positive regulation of T-helper 2 cell differentiation (GO:0045630)|protein heterooligomerization (GO:0051291)|protein kinase C signaling (GO:0070528)|protein localization to plasma membrane (GO:0072659)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)|transforming growth factor beta receptor signaling pathway (GO:0007179)|vesicle transport along microtubule (GO:0047496)	apical cortex (GO:0045179)|apical plasma membrane (GO:0016324)|axon hillock (GO:0043203)|cell junction (GO:0030054)|cell leading edge (GO:0031252)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|membrane raft (GO:0045121)|microtubule organizing center (GO:0005815)|myelin sheath abaxonal region (GO:0035748)|nuclear envelope (GO:0005635)|nuclear matrix (GO:0016363)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|tight junction (GO:0005923)	ATP binding (GO:0005524)|insulin receptor substrate binding (GO:0043560)|potassium channel regulator activity (GO:0015459)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(4)|endometrium(1)|large_intestine(5)|lung(5)|stomach(1)	18	all_cancers(77;0.000177)|all_epithelial(69;6.41e-05)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;1.14e-19)|all_lung(118;1.22e-08)|Lung NSC(185;1.24e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;2.96e-37)|OV - Ovarian serous cystadenocarcinoma(86;3.3e-23)|GBM - Glioblastoma multiforme(42;2.85e-08)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.00294)|BRCA - Breast invasive adenocarcinoma(365;0.00493)|STAD - Stomach adenocarcinoma(132;0.00669)|KIRC - Kidney renal clear cell carcinoma(229;0.0411)|Lung(427;0.213)	Tamoxifen(DB00675)	ACCAGTCAGAGTTCGAAGGCT	0.577																																						ENST00000400921.2																			0				breast(2)|central_nervous_system(4)|endometrium(1)|large_intestine(5)|lung(5)|stomach(1)	18						c.(1171-1173)gaG>gaA		protein kinase C, zeta							137	118	124					1																	2116391		2203	4299	6502	SO:0001819	synonymous_variant	5590				anti-apoptosis|intracellular signal transduction|negative regulation of insulin receptor signaling pathway|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of protein complex assembly|peptidyl-serine phosphorylation|platelet activation	endosome	ATP binding|protein kinase C activity|zinc ion binding	g.chr1:2116391G>A	BC014270	CCDS37.1, CCDS41229.1, CCDS55563.1	1p36.33-p36.2	2009-07-10			ENSG00000067606	ENSG00000067606	2.7.11.1		9412	protein-coding gene	gene with protein product		176982					Standard	NM_001242874		Approved	PKC2	uc001aiq.3	Q05513	OTTHUMG00000001238	ENST00000400921.2:c.1173G>A	1.37:g.2116391G>A						PRKCZ_ENST00000479263.1_3'UTR|PRKCZ_ENST00000400920.1_Silent_p.E391E|C1orf86_ENST00000400919.3_3'UTR	p.E391E	NM_001033581.1	NP_001028753.1	Q05513	KPCZ_HUMAN		Epithelial(90;2.96e-37)|OV - Ovarian serous cystadenocarcinoma(86;3.3e-23)|GBM - Glioblastoma multiforme(42;2.85e-08)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.00294)|BRCA - Breast invasive adenocarcinoma(365;0.00493)|STAD - Stomach adenocarcinoma(132;0.00669)|KIRC - Kidney renal clear cell carcinoma(229;0.0411)|Lung(427;0.213)	15	1856	+	all_cancers(77;0.000177)|all_epithelial(69;6.41e-05)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;1.14e-19)|all_lung(118;1.22e-08)|Lung NSC(185;1.24e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)	574			Protein kinase.		A8K4N0|A8MU64|B7Z2J7|E9PCW2|Q15207|Q5SYT5|Q969S4	Silent	SNP	ENST00000400921.2	37	c.1173G>A	CCDS41229.1																																																																																				0.577	PRKCZ-009	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000098533.3	NM_002744		9	4	0	0	0	1	0	9	4					A	2116391	G	A	2116391	2	1	435	1	0	0	0	0	0	0	0	1	12517	1020	36	3		3	PRKCZ	1	2116391	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	552710	2116391	247134230	15	20940											
MORN1	79906	broad.mit.edu	37	chr1	2288909	2288909	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tgtcctcctggccatggaggGcacccaaatgcagctccagg	8	7	12	14	0	0	0	0	0	0	0	3	1	3	1	5	4	2	3	5	4	1	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:2288909G>A	ENST00000378531.3	-	10	1171	c.998C>T	c.(997-999)gCc>gTc	p.A333V	MORN1_ENST00000378529.3_Missense_Mutation_p.A333V|MORN1_ENST00000606372.1_5'UTR	NM_024848.1	NP_079124.1	Q5T089	MORN1_HUMAN	MORN repeat containing 1	333										breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(1)|ovary(2)	9	all_cancers(77;0.000194)|all_epithelial(69;9.96e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;3.3e-15)|all_lung(118;1.15e-06)|Lung NSC(185;6.26e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;2.21e-37)|OV - Ovarian serous cystadenocarcinoma(86;5.01e-23)|GBM - Glioblastoma multiforme(42;2.8e-08)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.00137)|BRCA - Breast invasive adenocarcinoma(365;0.00488)|STAD - Stomach adenocarcinoma(132;0.00665)|KIRC - Kidney renal clear cell carcinoma(229;0.0203)|Lung(427;0.212)		GCCATGGAGGGCACCCAAATG	0.692																																						ENST00000378531.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(1)|ovary(2)	9						c.(997-999)gCc>gTc		MORN repeat containing 1							45	48	47					1																	2288909		2203	4300	6503	SO:0001583	missense	79906							g.chr1:2288909G>A	AK024003	CCDS40.1, CCDS72688.1	1p36.33-p36.32	2008-02-05			ENSG00000116151	ENSG00000116151			25852	protein-coding gene	gene with protein product						12477932	Standard	XM_005244798		Approved	FLJ13941	uc001ajb.1	Q5T089	OTTHUMG00000001402	ENST00000378531.3:c.998C>T	1.37:g.2288909G>A	ENSP00000367792:p.Ala333Val					MORN1_ENST00000378529.3_Missense_Mutation_p.A333V|MORN1_ENST00000606372.1_5'UTR	p.A333V	NM_024848.1	NP_079124.1	Q5T089	MORN1_HUMAN		Epithelial(90;2.21e-37)|OV - Ovarian serous cystadenocarcinoma(86;5.01e-23)|GBM - Glioblastoma multiforme(42;2.8e-08)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.00137)|BRCA - Breast invasive adenocarcinoma(365;0.00488)|STAD - Stomach adenocarcinoma(132;0.00665)|KIRC - Kidney renal clear cell carcinoma(229;0.0203)|Lung(427;0.212)	10	1171	-	all_cancers(77;0.000194)|all_epithelial(69;9.96e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;3.3e-15)|all_lung(118;1.15e-06)|Lung NSC(185;6.26e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)	333					A6NKZ6|Q8WW30|Q9H852	Missense_Mutation	SNP	ENST00000378531.3	37	c.998C>T	CCDS40.1	.	.	.	.	.	.	.	.	.	.	G	7.737	0.700531	0.15106	.	.	ENSG00000116151	ENST00000378531;ENST00000378529	T;T	0.57107	0.84;0.42	2.79	-0.148	0.13424	.	2.839900	0.01854	N	0.036176	T	0.43233	0.1238	L	0.36672	1.1	0.09310	N	1	B;B	0.16396	0.017;0.012	B;B	0.12156	0.007;0.006	T	0.31223	-0.9951	10	0.59425	D	0.04	.	5.0304	0.14407	0.4454:0.0:0.5546:0.0	.	333;333	Q5T089-2;Q5T089	.;MORN1_HUMAN	V	333	ENSP00000367792:A333V;ENSP00000367790:A333V	ENSP00000367790:A333V	A	-	2	0	MORN1	2278769	0.036000	0.19791	0.000000	0.03702	0.001000	0.01503	2.543000	0.45752	-0.027000	0.13873	-0.251000	0.11542	GCC		0.692	MORN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000004055.1	NM_024848		7	56	0	0	0	1	0	7	56					A	2288909	G	A	2288909	3	1	435	1	0	0	0	0	1	0	0	0	9708	1203	42	3	515	3	MORN1	1	2288909	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	172518	2288909	246961712	16	20941											
PEX10	5192	broad.mit.edu	37	chr1	2340272	2340272	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tccacctggatgatgctgacGtactcctcccccagggtctg	6	10	10	15	1	1	2	0	2	1	0	4	3	4	3	5	2	2	2	5	2	1	1	rs531987102		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:2340272G>A	ENST00000447513.2	-	3	287	c.219C>T	c.(217-219)taC>taT	p.Y73Y	PEX10_ENST00000507596.1_Silent_p.Y73Y|PEX10_ENST00000288774.3_Silent_p.Y73Y|PEX10_ENST00000515760.1_5'UTR	NM_002617.3	NP_002608.1	O60683	PEX10_HUMAN	peroxisomal biogenesis factor 10	73					peroxisome organization (GO:0007031)|protein import into peroxisome matrix (GO:0016558)	integral component of peroxisomal membrane (GO:0005779)|intracellular (GO:0005622)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	protein C-terminus binding (GO:0008022)|zinc ion binding (GO:0008270)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|skin(2)	7	all_cancers(77;0.000247)|all_epithelial(69;9.96e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;5.35e-20)|all_lung(118;2.78e-08)|Lung NSC(185;2.69e-06)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;1.1e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.02e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00102)|BRCA - Breast invasive adenocarcinoma(365;0.00435)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0169)|Lung(427;0.199)		TGATGCTGACGTACTCCTCCC	0.672													G|||	1	0.000199681	0	0	5008	,	,		18967	0		0	False		,,,				2504	0.001				GBM(12;9 508 1649 13619)	ENST00000288774.3																			0				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|skin(2)	7						c.(217-219)taC>taT		peroxisomal biogenesis factor 10							104	104	104					1																	2340272		2203	4300	6503	SO:0001819	synonymous_variant	5192				protein import into peroxisome matrix	integral to peroxisomal membrane|peroxisomal membrane	protein binding|protein C-terminus binding|zinc ion binding	g.chr1:2340272G>A	AF060502	CCDS41.1, CCDS44045.1	1p36.32	2013-01-09	2008-08-26		ENSG00000157911	ENSG00000157911		"RING-type (C3HC4) zinc fingers"	8851	protein-coding gene	gene with protein product		602859	"peroxisome biogenesis factor 10"			9683594	Standard	NM_002617		Approved	RNF69	uc001ajg.3	O60683	OTTHUMG00000001637	ENST00000447513.2:c.219C>T	1.37:g.2340272G>A						PEX10_ENST00000447513.2_Silent_p.Y73Y|PEX10_ENST00000507596.1_Silent_p.Y73Y|PEX10_ENST00000515760.1_5'UTR	p.Y73Y	NM_153818.1	NP_722540.1	O60683	PEX10_HUMAN		Epithelial(90;1.1e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.02e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00102)|BRCA - Breast invasive adenocarcinoma(365;0.00435)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0169)|Lung(427;0.199)	3	246	-	all_cancers(77;0.000247)|all_epithelial(69;9.96e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;5.35e-20)|all_lung(118;2.78e-08)|Lung NSC(185;2.69e-06)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)	73					B3KWD8|Q5T095|Q9BW90	Silent	SNP	ENST00000447513.2	37	c.219C>T	CCDS44045.1																																																																																				0.672	PEX10-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000367454.1	NM_153818		9	21	0	0	0	1	0	9	21					A	2340272	G	A	2340272	2	1	435	1	0	0	0	0	0	0	0	1	11736	1140	40	1		1	PEX10	1	2340272	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	51363	2340272	246910349	17	20942											
PLCH2	9651	broad.mit.edu	37	chr1	2419141	2419141	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgaaaccatcaacaaatatGccttcatcaagaatgagtga	17	10	6	8	0	3	4	3	3	0	1	3	4	3	4	2	0	3	0	2	0	6	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:2419141G>A	ENST00000419816.2	+	8	1493	c.1219G>A	c.(1219-1221)Gcc>Acc	p.A407T	PLCH2_ENST00000449969.1_Missense_Mutation_p.A380T|PLCH2_ENST00000288766.5_Intron|PLCH2_ENST00000378486.3_Missense_Mutation_p.A407T|PLCH2_ENST00000378488.3_Missense_Mutation_p.A407T			O75038	PLCH2_HUMAN	phospholipase C, eta 2	407	PI-PLC X-box. {ECO:0000255|PROSITE- ProRule:PRU00270}.				inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|phosphatidylinositol metabolic process (GO:0046488)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871)			central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(3)|skin(1)	20	all_cancers(77;0.000161)|all_epithelial(69;5.98e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;7.32e-16)|all_lung(118;1.15e-06)|Lung NSC(185;6.26e-05)|Renal(390;0.00571)|Breast(487;0.00832)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;1.44e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.78e-23)|GBM - Glioblastoma multiforme(42;2.8e-08)|Colorectal(212;4.19e-05)|COAD - Colon adenocarcinoma(227;0.000195)|Kidney(185;0.00034)|BRCA - Breast invasive adenocarcinoma(365;0.00443)|KIRC - Kidney renal clear cell carcinoma(229;0.00548)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.2)		CAACAAATATGCCTTCATCAA	0.572																																						ENST00000449969.1																			0				central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(3)|skin(1)	20						c.(1138-1140)Gcc>Acc		phospholipase C, eta 2							51	54	53					1																	2419141		1979	4164	6143	SO:0001583	missense	9651				intracellular signal transduction|lipid catabolic process	cytoplasm|plasma membrane	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr1:2419141G>A	AB007919	CCDS59959.1	1p36.32	2013-01-10	2006-03-16	2006-03-16	ENSG00000149527	ENSG00000149527	3.1.4.11	"EF-hand domain containing"	29037	protein-coding gene	gene with protein product		612836	"phospholipase C-like 4"	PLCL4		15899900	Standard	XM_006711054		Approved	KIAA0450, PLCeta2, RP3-395M20.1, PLC-eta2	uc001aji.1	O75038	OTTHUMG00000000719	ENST00000419816.2:c.1219G>A	1.37:g.2419141G>A	ENSP00000389803:p.Ala407Thr					PLCH2_ENST00000378488.3_Missense_Mutation_p.A407T|PLCH2_ENST00000419816.2_Missense_Mutation_p.A407T|PLCH2_ENST00000378483.2_Intron|PLCH2_ENST00000378486.3_Missense_Mutation_p.A407T|PLCH2_ENST00000288766.5_Intron	p.A380T			O75038	PLCH2_HUMAN		Epithelial(90;1.44e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.78e-23)|GBM - Glioblastoma multiforme(42;2.8e-08)|Colorectal(212;4.19e-05)|COAD - Colon adenocarcinoma(227;0.000195)|Kidney(185;0.00034)|BRCA - Breast invasive adenocarcinoma(365;0.00443)|KIRC - Kidney renal clear cell carcinoma(229;0.00548)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.2)	8	1299	+	all_cancers(77;0.000161)|all_epithelial(69;5.98e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;7.32e-16)|all_lung(118;1.15e-06)|Lung NSC(185;6.26e-05)|Renal(390;0.00571)|Breast(487;0.00832)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)	407			PI-PLC X-box.		A2VCM3|B9DI80|Q3LUA8|Q86XJ2|Q86XU1|Q86YU7|Q8TEH5|Q8WUS6	Missense_Mutation	SNP	ENST00000419816.2	37	c.1138G>A		.	.	.	.	.	.	.	.	.	.	G	19.41	3.822732	0.71028	.	.	ENSG00000149527	ENST00000449969;ENST00000378486;ENST00000378488;ENST00000343889;ENST00000278878	T;T;T	0.72725	-0.68;-0.68;-0.68	4.77	4.77	0.60923	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);Phospholipase C, phosphatidylinositol-specific , X domain (3);	0.059107	0.64402	D	0.000002	D	0.89822	0.6826	H	0.97732	4.065	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;0.999;1.0	D	0.93677	0.6995	10	0.87932	D	0	.	16.7595	0.85508	0.0:0.0:1.0:0.0	.	254;195;380;407	B9DI81;B9DI82;O75038-2;O75038	.;.;.;PLCH2_HUMAN	T	380;407;407;254;195	ENSP00000397289:A380T;ENSP00000367747:A407T;ENSP00000367749:A407T	ENSP00000278878:A195T	A	+	1	0	PLCH2	2409001	1.000000	0.71417	0.971000	0.41717	0.361000	0.29550	6.347000	0.73004	2.200000	0.70718	0.561000	0.74099	GCC		0.572	PLCH2-009	KNOWN	non_canonical_conserved|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000467514.1	NM_014638		13	14	0	0	0	1	0	13	14					A	2419141	G	A	2419141	3	1	435	1	0	0	0	0	1	0	0	0	12038	1319	46	3	1249	3	PLCH2	1	2419141	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	78869	2419141	246831480	18	20943											
PLCH2	9651	broad.mit.edu	37	chr1	2436272	2436272	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gagggacacggcgggtgtcgGggccaggggtgagacgggac	7	3	23	8	4	0	1	0	1	0	1	1	5	0	3	1	8	0	0	1	8	0	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:2436272G>A	ENST00000419816.2	+	22	4145	c.3871G>A	c.(3871-3873)Ggg>Agg	p.G1291R	PLCH2_ENST00000449969.1_3'UTR|PLCH2_ENST00000378486.3_Missense_Mutation_p.G1291R|PLCH2_ENST00000378488.3_Missense_Mutation_p.G1255R			O75038	PLCH2_HUMAN	phospholipase C, eta 2	1291					inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|phosphatidylinositol metabolic process (GO:0046488)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871)			central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(3)|skin(1)	20	all_cancers(77;0.000161)|all_epithelial(69;5.98e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;7.32e-16)|all_lung(118;1.15e-06)|Lung NSC(185;6.26e-05)|Renal(390;0.00571)|Breast(487;0.00832)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;1.44e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.78e-23)|GBM - Glioblastoma multiforme(42;2.8e-08)|Colorectal(212;4.19e-05)|COAD - Colon adenocarcinoma(227;0.000195)|Kidney(185;0.00034)|BRCA - Breast invasive adenocarcinoma(365;0.00443)|KIRC - Kidney renal clear cell carcinoma(229;0.00548)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.2)		GCGGGTGTCGGGGCCAGGGGT	0.687																																						ENST00000419816.2																			0				central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(3)|skin(1)	20						c.(3871-3873)Ggg>Agg		phospholipase C, eta 2							10	13	12					1																	2436272		1971	4123	6094	SO:0001583	missense	9651				intracellular signal transduction|lipid catabolic process	cytoplasm|plasma membrane	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr1:2436272G>A	AB007919	CCDS59959.1	1p36.32	2013-01-10	2006-03-16	2006-03-16	ENSG00000149527	ENSG00000149527	3.1.4.11	"EF-hand domain containing"	29037	protein-coding gene	gene with protein product		612836	"phospholipase C-like 4"	PLCL4		15899900	Standard	XM_006711054		Approved	KIAA0450, PLCeta2, RP3-395M20.1, PLC-eta2	uc001aji.1	O75038	OTTHUMG00000000719	ENST00000419816.2:c.3871G>A	1.37:g.2436272G>A	ENSP00000389803:p.Gly1291Arg					PLCH2_ENST00000378488.3_Missense_Mutation_p.G1255R|PLCH2_ENST00000378483.2_3'UTR|PLCH2_ENST00000378486.3_Missense_Mutation_p.G1291R|PLCH2_ENST00000449969.1_3'UTR	p.G1291R			O75038	PLCH2_HUMAN		Epithelial(90;1.44e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.78e-23)|GBM - Glioblastoma multiforme(42;2.8e-08)|Colorectal(212;4.19e-05)|COAD - Colon adenocarcinoma(227;0.000195)|Kidney(185;0.00034)|BRCA - Breast invasive adenocarcinoma(365;0.00443)|KIRC - Kidney renal clear cell carcinoma(229;0.00548)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.2)	22	4145	+	all_cancers(77;0.000161)|all_epithelial(69;5.98e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;7.32e-16)|all_lung(118;1.15e-06)|Lung NSC(185;6.26e-05)|Renal(390;0.00571)|Breast(487;0.00832)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)	1291					A2VCM3|B9DI80|Q3LUA8|Q86XJ2|Q86XU1|Q86YU7|Q8TEH5|Q8WUS6	Missense_Mutation	SNP	ENST00000419816.2	37	c.3871G>A		.	.	.	.	.	.	.	.	.	.	G	10.09	1.254416	0.22965	.	.	ENSG00000149527	ENST00000378486;ENST00000378488;ENST00000278878	T;T	0.23147	2.04;1.92	4.16	3.24	0.37175	.	5.746630	0.00166	N	0.000018	T	0.26085	0.0636	N	0.24115	0.695	0.51233	D	0.999917	P;P	0.40602	0.723;0.723	B;B	0.41723	0.365;0.203	T	0.03673	-1.1014	10	0.33940	T	0.23	.	13.0351	0.58864	0.0:0.1634:0.8366:0.0	.	1043;1291	B9DI82;O75038	.;PLCH2_HUMAN	R	1291;1255;1043	ENSP00000367747:G1291R;ENSP00000367749:G1255R	ENSP00000278878:G1043R	G	+	1	0	PLCH2	2426132	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	-0.155000	0.10115	0.759000	0.33084	-0.326000	0.08463	GGG		0.687	PLCH2-009	KNOWN	non_canonical_conserved|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000467514.1	NM_014638		5	8	0	0	0	1	0	5	8					A	2436272	G	A	2436272	3	1	435	1	0	0	0	0	1	0	0	0	12038	1232	43	3	3957	3	PLCH2	1	2436272	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	17131	2436272	246814349	19	20944											
PANK4	55229	broad.mit.edu	37	chr1	2452330	2452330	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttaatcaggcacgtcatcacGtcctccttgtcgactctgaa	9	12	7	13	3	4	1	3	1	1	0	7	2	6	1	2	1	0	1	2	1	2	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:2452330G>A	ENST00000378466.3	-	4	450	c.438C>T	c.(436-438)gaC>gaT	p.D146D	PANK4_ENST00000435556.3_Intron|PANK4_ENST00000491212.1_5'Flank	NM_018216.1	NP_060686.1	Q9NVE7	PANK4_HUMAN	pantothenate kinase 4	146					coenzyme A biosynthetic process (GO:0015937)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|pantothenate kinase activity (GO:0004594)			breast(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	23	all_cancers(77;0.000158)|all_epithelial(69;8.01e-05)|all_lung(157;0.0212)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;3.18e-20)|all_lung(118;1.67e-08)|Lung NSC(185;2.69e-06)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;1.54e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.95e-23)|GBM - Glioblastoma multiforme(42;2.81e-08)|Colorectal(212;4.25e-05)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(365;0.00445)|KIRC - Kidney renal clear cell carcinoma(229;0.00549)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.201)		ACGTCATCACGTCCTCCTTGT	0.572																																						ENST00000378466.3																			0				breast(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	23						c.(436-438)gaC>gaT		pantothenate kinase 4							113	109	111					1																	2452330		2203	4300	6503	SO:0001819	synonymous_variant	55229				coenzyme A biosynthetic process	cytoplasm	ATP binding|pantothenate kinase activity	g.chr1:2452330G>A	AK001644	CCDS42.1	1p36.32	2008-02-05			ENSG00000157881	ENSG00000157881			19366	protein-coding gene	gene with protein product		606162				11479594	Standard	XR_241034		Approved	FLJ10782	uc001ajm.1	Q9NVE7	OTTHUMG00000000791	ENST00000378466.3:c.438C>T	1.37:g.2452330G>A						PANK4_ENST00000435556.3_Intron	p.D146D	NM_018216.1	NP_060686.1	Q9NVE7	PANK4_HUMAN		Epithelial(90;1.54e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.95e-23)|GBM - Glioblastoma multiforme(42;2.81e-08)|Colorectal(212;4.25e-05)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(365;0.00445)|KIRC - Kidney renal clear cell carcinoma(229;0.00549)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.201)	4	450	-	all_cancers(77;0.000158)|all_epithelial(69;8.01e-05)|all_lung(157;0.0212)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;3.18e-20)|all_lung(118;1.67e-08)|Lung NSC(185;2.69e-06)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)	146					B9DI84|Q53EU3|Q5TA84|Q7RTX3|Q9H3X5	Silent	SNP	ENST00000378466.3	37	c.438C>T	CCDS42.1																																																																																				0.572	PANK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000002082.1			28	16	0	0	0	1	0	28	16					A	2452330	G	A	2452330	2	1	435	1	0	0	0	0	0	0	0	1	11419	1136	40	1		1	PANK4	1	2452330	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	16058	2452330	246798291	20	20945											
MMEL1	79258	broad.mit.edu	37	chr1	2535386	2535386	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggtacaaggcgatgacgtcGtgtctctcctcctggggtac	6	11	13	11	3	1	1	0	1	1	0	5	2	3	1	2	4	2	2	2	4	3	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:2535386G>A	ENST00000378412.3	-	11	1139	c.978C>T	c.(976-978)caC>caT	p.H326H	MMEL1_ENST00000502556.1_Silent_p.H169H|MMEL1_ENST00000288709.6_Silent_p.H317H			Q495T6	MMEL1_HUMAN	membrane metallo-endopeptidase-like 1	326						endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|urinary_tract(1)	27	all_cancers(77;0.000233)|all_epithelial(69;8.55e-05)|all_lung(157;0.0228)|Lung NSC(156;0.0402)|Ovarian(185;0.0634)	all_epithelial(116;1.03e-20)|all_lung(118;5.15e-09)|Lung NSC(185;9.02e-07)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;8.52e-23)|GBM - Glioblastoma multiforme(42;1.49e-08)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;0.000213)|Kidney(185;0.000371)|BRCA - Breast invasive adenocarcinoma(365;0.00219)|KIRC - Kidney renal clear cell carcinoma(229;0.00571)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.131)		CGATGACGTCGTGTCTCTCCT	0.677																																						ENST00000288709.6																			0				cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|urinary_tract(1)	27						c.(949-951)caC>caT		membrane metallo-endopeptidase-like 1							131	113	119					1																	2535386		2203	4300	6503	SO:0001819	synonymous_variant	79258				proteolysis	extracellular region|integral to membrane|intracellular membrane-bounded organelle	metal ion binding|metalloendopeptidase activity	g.chr1:2535386G>A	AF336981	CCDS30569.1, CCDS30569.2	1p36	2008-02-05			ENSG00000142606	ENSG00000142606			14668	protein-coding gene	gene with protein product			"membrane metallo-endopeptidase-like 2"	MMEL2			Standard	NM_033467		Approved	SEP, NL1, NL2, NEPII	uc001ajy.2	Q495T6	OTTHUMG00000000846	ENST00000378412.3:c.978C>T	1.37:g.2535386G>A						MMEL1_ENST00000378412.3_Silent_p.H326H|MMEL1_ENST00000502556.1_Silent_p.H169H	p.H317H	NM_033467.3	NP_258428.2	Q495T6	MMEL1_HUMAN		Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;8.52e-23)|GBM - Glioblastoma multiforme(42;1.49e-08)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;0.000213)|Kidney(185;0.000371)|BRCA - Breast invasive adenocarcinoma(365;0.00219)|KIRC - Kidney renal clear cell carcinoma(229;0.00571)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.131)	11	1191	-	all_cancers(77;0.000233)|all_epithelial(69;8.55e-05)|all_lung(157;0.0228)|Lung NSC(156;0.0402)|Ovarian(185;0.0634)	all_epithelial(116;1.03e-20)|all_lung(118;5.15e-09)|Lung NSC(185;9.02e-07)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)	326					B9DI79|Q495T7|Q495T8|Q5SZS6|Q96PH9	Silent	SNP	ENST00000378412.3	37	c.951C>T	CCDS30569.2																																																																																				0.677	MMEL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000002395.2	NM_033467		24	43	0	0	0	1	0	24	43					A	2535386	G	A	2535386	2	1	435	1	0	0	0	0	0	0	0	1	9646	1136	40	1		1	MMEL1	1	2535386	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	83056	2535386	246715235	21	20946											
PRDM16	63976	broad.mit.edu	37	chr1	3328517	3328517	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgagagccgcctggaggacTcctgtgtggagaagctgaag	9	7	16	9	2	0	3	0	1	0	2	2	7	1	5	3	3	2	1	3	3	2	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:3328517T>C	ENST00000270722.5	+	9	1805	c.1756T>C	c.(1756-1758)Tcc>Ccc	p.S586P	PRDM16_ENST00000378398.3_Missense_Mutation_p.S587P|PRDM16_ENST00000378391.2_Missense_Mutation_p.S586P|PRDM16_ENST00000511072.1_Missense_Mutation_p.S587P|PRDM16_ENST00000442529.2_Missense_Mutation_p.S586P|PRDM16_ENST00000512462.1_3'UTR|PRDM16_ENST00000514189.1_Missense_Mutation_p.S587P|PRDM16_ENST00000441472.2_Missense_Mutation_p.S586P			Q9HAZ2	PRD16_HUMAN	PR domain containing 16	586					brown fat cell differentiation (GO:0050873)|negative regulation of granulocyte differentiation (GO:0030853)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neurogenesis (GO:0022008)|palate development (GO:0060021)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cellular respiration (GO:0043457)|somatic stem cell maintenance (GO:0035019)|tongue development (GO:0043586)|transcription, DNA-templated (GO:0006351)|white fat cell differentiation (GO:0050872)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)			breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(3)	59	all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111)	all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134)		Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137)		CCTGGAGGACTCCTGTGTGGA	0.657			T	EVI1	"MDS, AML"																																	ENST00000378398.3				Dom	yes		1	1p36.23-p33	63976	T	PR domain containing 16			L	EVI1		"MDS, AML"		0				breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(3)	59						c.(1759-1761)Tcc>Ccc		PR domain containing 16							48	59	55					1																	3328517		2166	4259	6425	SO:0001583	missense	63976				brown fat cell differentiation|negative regulation of granulocyte differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cellular respiration|transcription, DNA-dependent	transcriptional repressor complex	protein binding|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding	g.chr1:3328517T>C	AF294278	CCDS41236.1, CCDS44048.1, CCDS41236.2, CCDS44048.2	1p36.23-p33	2013-01-08			ENSG00000142611	ENSG00000142611		"Zinc fingers, C2H2-type"	14000	protein-coding gene	gene with protein product	"MDS1/EVI1-like", "PR-domain zinc finger protein 16", "transcription factor MEL1"	605557				11050005	Standard	NM_199454		Approved	MEL1, PFM13, KIAA1675, MGC166915	uc001akf.3	Q9HAZ2	OTTHUMG00000000581	ENST00000270722.5:c.1756T>C	1.37:g.3328517T>C	ENSP00000270722:p.Ser586Pro					PRDM16_ENST00000442529.2_Missense_Mutation_p.S586P|PRDM16_ENST00000441472.2_Missense_Mutation_p.S586P|PRDM16_ENST00000514189.1_Missense_Mutation_p.S587P|PRDM16_ENST00000511072.1_Missense_Mutation_p.S587P|PRDM16_ENST00000378391.2_Missense_Mutation_p.S586P|PRDM16_ENST00000270722.5_Missense_Mutation_p.S586P|PRDM16_ENST00000512462.1_3'UTR	p.S587P			Q9HAZ2	PRD16_HUMAN		Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137)	10	1841	+	all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111)	all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134)	586					A6NHQ8|B1AJP7|B1AJP8|B1AJP9|B1WB48|Q8WYJ9|Q9C0I8	Missense_Mutation	SNP	ENST00000270722.5	37	c.1759T>C	CCDS41236.2	.	.	.	.	.	.	.	.	.	.	T	12.46	1.946016	0.34377	.	.	ENSG00000142611	ENST00000511072;ENST00000378398;ENST00000441472;ENST00000442529;ENST00000378391;ENST00000514189;ENST00000270722;ENST00000512462;ENST00000408992;ENST00000509860	T;T;T;T;T;T;T;T;T	0.10099	2.91;2.95;2.96;2.92;2.91;2.93;2.96;2.92;2.92	5.1	-4.73	0.03259	.	0.629622	0.13613	N	0.375004	T	0.14141	0.0342	L	0.55481	1.735	0.22866	N	0.998632	B;P;P;P	0.51147	0.001;0.881;0.942;0.916	B;P;P;B	0.50270	0.001;0.53;0.636;0.329	T	0.08166	-1.0735	10	0.62326	D	0.03	.	10.1984	0.43069	0.0:0.1705:0.1481:0.6814	.	586;586;586;586	Q9HAZ2;Q9HAZ2-2;F8WEV3;D3YTA5	PRD16_HUMAN;.;.;.	P	587;587;586;586;586;587;586;402;402;395	ENSP00000426975:S587P;ENSP00000367651:S587P;ENSP00000407968:S586P;ENSP00000405253:S586P;ENSP00000367643:S586P;ENSP00000421400:S587P;ENSP00000270722:S586P;ENSP00000422504:S402P;ENSP00000425796:S395P	ENSP00000270722:S586P	S	+	1	0	PRDM16	3318377	0.095000	0.21747	0.000000	0.03702	0.001000	0.01503	0.709000	0.25734	-0.545000	0.06224	-1.125000	0.01998	TCC		0.657	PRDM16-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000001382.3	NM_022114		25	32	0	0	0	1	0	25	32					C	3328517	T	C	3328517	3	2	435	1	0	0	0	0	1	0	0	0	12457	1551	54	4	1790	4	PRDM16	1	3328517	Missense_Mutation	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	793131	3328517	245922104	22	20947											
MEGF6	1953	broad.mit.edu	37	chr1	3413851	3413851	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acagcggcaggccccagtgaCgtggtggcaggcagcgccag	8	3	17	13	3	0	1	0	1	0	0	0	1	0	1	3	5	2	3	3	5	0	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:3413851C>T	ENST00000356575.4	-	27	3653	c.3427G>A	c.(3427-3429)Gtc>Atc	p.V1143I	MEGF6_ENST00000294599.4_Missense_Mutation_p.V952I	NM_001409.3	NP_001400.3	O75095	MEGF6_HUMAN	multiple EGF-like-domains 6	1143	EGF-like 21. {ECO:0000255|PROSITE- ProRule:PRU00076}.					extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			cervix(2)|endometrium(3)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_cancers(77;0.00681)|all_epithelial(69;0.00301)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.105)	all_epithelial(116;7.41e-22)|all_lung(118;8.3e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211)		Epithelial(90;3.78e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.86e-22)|GBM - Glioblastoma multiforme(42;1.96e-12)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.000448)|BRCA - Breast invasive adenocarcinoma(365;0.000779)|KIRC - Kidney renal clear cell carcinoma(229;0.00645)|STAD - Stomach adenocarcinoma(132;0.00669)|Lung(427;0.213)		GCCCCAGTGACGTGGTGGCAG	0.726																																					Ovarian(73;978 3658)	ENST00000356575.4																			0				cervix(2)|endometrium(3)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19						c.(3427-3429)Gtc>Atc		multiple EGF-like-domains 6							9	15	13					1																	3413851		2052	4140	6192	SO:0001583	missense	1953					extracellular region	calcium ion binding	g.chr1:3413851C>T	AB011539	CCDS41237.1	1p36.3	2008-02-05	2006-03-31	2006-03-31	ENSG00000162591	ENSG00000162591			3232	protein-coding gene	gene with protein product		604266	"EGF-like-domain, multiple 3"	EGFL3		9693030	Standard	NM_001409		Approved		uc001akl.3	O75095	OTTHUMG00000000611	ENST00000356575.4:c.3427G>A	1.37:g.3413851C>T	ENSP00000348982:p.Val1143Ile					MEGF6_ENST00000294599.4_Missense_Mutation_p.V952I	p.V1143I	NM_001409.3	NP_001400.3	O75095	MEGF6_HUMAN		Epithelial(90;3.78e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.86e-22)|GBM - Glioblastoma multiforme(42;1.96e-12)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.000448)|BRCA - Breast invasive adenocarcinoma(365;0.000779)|KIRC - Kidney renal clear cell carcinoma(229;0.00645)|STAD - Stomach adenocarcinoma(132;0.00669)|Lung(427;0.213)	27	3653	-	all_cancers(77;0.00681)|all_epithelial(69;0.00301)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.105)	all_epithelial(116;7.41e-22)|all_lung(118;8.3e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211)	1143			EGF-like 21.		Q4AC86|Q5VV39	Missense_Mutation	SNP	ENST00000356575.4	37	c.3427G>A	CCDS41237.1	.	.	.	.	.	.	.	.	.	.	C	3.790	-0.043841	0.07452	.	.	ENSG00000162591	ENST00000294599;ENST00000356575	T;T	0.16743	2.42;2.32	4.36	1.44	0.22558	EGF-like, laminin (2);Epidermal growth factor-like, type 3 (1);	0.365534	0.27831	N	0.017677	T	0.09905	0.0243	L	0.27944	0.81	0.26448	N	0.975662	B;B	0.30542	0.052;0.284	B;B	0.25884	0.047;0.064	T	0.27468	-1.0073	10	0.24483	T	0.36	-24.5929	9.8885	0.41276	0.0:0.7526:0.0:0.2474	.	1143;952	O75095;O75095-2	MEGF6_HUMAN;.	I	952;1143	ENSP00000294599:V952I;ENSP00000348982:V1143I	ENSP00000294599:V952I	V	-	1	0	MEGF6	3403711	0.000000	0.05858	0.244000	0.24202	0.671000	0.39405	-0.727000	0.04931	0.577000	0.29470	0.561000	0.74099	GTC		0.726	MEGF6-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354866.1	NM_001409		4	14	0	0	0	1	0	4	14					T	3413851	C	T	3413851	3	4	435	1	0	0	0	0	1	0	0	0	9462	536	19	1	1242	1	MEGF6	1	3413851	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	85334	3413851	245836770	23	20948											
MEGF6	1953	broad.mit.edu	37	chr1	3417578	3417578	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gggggcacagctgcagtgtcCggtggctgggtggcagtgcc	4	7	20	10	1	0	0	0	0	0	0	1	0	1	0	2	6	3	5	2	6	0	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:3417578C>T	ENST00000356575.4	-	20	2753	c.2527G>A	c.(2527-2529)Gga>Aga	p.G843R	MEGF6_ENST00000294599.4_Missense_Mutation_p.G738R	NM_001409.3	NP_001400.3	O75095	MEGF6_HUMAN	multiple EGF-like-domains 6	843	EGF-like 14. {ECO:0000255|PROSITE- ProRule:PRU00076}.					extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			cervix(2)|endometrium(3)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_cancers(77;0.00681)|all_epithelial(69;0.00301)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.105)	all_epithelial(116;7.41e-22)|all_lung(118;8.3e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211)		Epithelial(90;3.78e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.86e-22)|GBM - Glioblastoma multiforme(42;1.96e-12)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.000448)|BRCA - Breast invasive adenocarcinoma(365;0.000779)|KIRC - Kidney renal clear cell carcinoma(229;0.00645)|STAD - Stomach adenocarcinoma(132;0.00669)|Lung(427;0.213)		CTGCAGTGTCCGGTGGCTGGG	0.637																																					Ovarian(73;978 3658)	ENST00000356575.4																			0				cervix(2)|endometrium(3)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19						c.(2527-2529)Gga>Aga		multiple EGF-like-domains 6							36	45	42					1																	3417578		2035	4201	6236	SO:0001583	missense	1953					extracellular region	calcium ion binding	g.chr1:3417578C>T	AB011539	CCDS41237.1	1p36.3	2008-02-05	2006-03-31	2006-03-31	ENSG00000162591	ENSG00000162591			3232	protein-coding gene	gene with protein product		604266	"EGF-like-domain, multiple 3"	EGFL3		9693030	Standard	NM_001409		Approved		uc001akl.3	O75095	OTTHUMG00000000611	ENST00000356575.4:c.2527G>A	1.37:g.3417578C>T	ENSP00000348982:p.Gly843Arg					MEGF6_ENST00000294599.4_Missense_Mutation_p.G738R	p.G843R	NM_001409.3	NP_001400.3	O75095	MEGF6_HUMAN		Epithelial(90;3.78e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.86e-22)|GBM - Glioblastoma multiforme(42;1.96e-12)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.000448)|BRCA - Breast invasive adenocarcinoma(365;0.000779)|KIRC - Kidney renal clear cell carcinoma(229;0.00645)|STAD - Stomach adenocarcinoma(132;0.00669)|Lung(427;0.213)	20	2753	-	all_cancers(77;0.00681)|all_epithelial(69;0.00301)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.105)	all_epithelial(116;7.41e-22)|all_lung(118;8.3e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211)	843			EGF-like 14.		Q4AC86|Q5VV39	Missense_Mutation	SNP	ENST00000356575.4	37	c.2527G>A	CCDS41237.1	.	.	.	.	.	.	.	.	.	.	C	15.53	2.859723	0.51376	.	.	ENSG00000162591	ENST00000294599;ENST00000356575	T;T	0.80123	-1.34;-1.34	4.98	4.98	0.66077	EGF-like, laminin (2);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	D	0.000000	D	0.92264	0.7546	M	0.93283	3.4	0.46499	D	0.999077	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.92968	0.6395	10	0.40728	T	0.16	-13.2566	18.2542	0.90014	0.0:1.0:0.0:0.0	.	843;738	O75095;O75095-2	MEGF6_HUMAN;.	R	738;843	ENSP00000294599:G738R;ENSP00000348982:G843R	ENSP00000294599:G738R	G	-	1	0	MEGF6	3407438	0.997000	0.39634	0.099000	0.21106	0.663000	0.39108	5.638000	0.67861	2.309000	0.77851	0.561000	0.74099	GGA		0.637	MEGF6-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354866.1	NM_001409		18	23	0	0	0	1	0	18	23					T	3417578	C	T	3417578	3	4	435	1	0	0	0	0	1	0	0	0	9462	661	23	2	2170	2	MEGF6	1	3417578	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	3727	3417578	245833043	24	20949											
MEGF6	1953	broad.mit.edu	37	chr1	3511909	3511909	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	aggcggcactcacccgagagGcagccctcctcgtcgggctg	6	5	14	16	4	1	1	1	0	0	1	4	2	2	1	3	4	1	3	3	4	0	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:3511909G>A	ENST00000356575.4	-	3	595	c.369C>T	c.(367-369)tgC>tgT	p.C123C		NM_001409.3	NP_001400.3	O75095	MEGF6_HUMAN	multiple EGF-like-domains 6	123	EMI. {ECO:0000255|PROSITE- ProRule:PRU00384}.					extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			cervix(2)|endometrium(3)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_cancers(77;0.00681)|all_epithelial(69;0.00301)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.105)	all_epithelial(116;7.41e-22)|all_lung(118;8.3e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211)		Epithelial(90;3.78e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.86e-22)|GBM - Glioblastoma multiforme(42;1.96e-12)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.000448)|BRCA - Breast invasive adenocarcinoma(365;0.000779)|KIRC - Kidney renal clear cell carcinoma(229;0.00645)|STAD - Stomach adenocarcinoma(132;0.00669)|Lung(427;0.213)		CACCCGAGAGGCAGCCCTCCT	0.687																																					Ovarian(73;978 3658)	ENST00000356575.4																			0				cervix(2)|endometrium(3)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19						c.(367-369)tgC>tgT		multiple EGF-like-domains 6							21	28	25					1																	3511909		1909	4018	5927	SO:0001819	synonymous_variant	1953					extracellular region	calcium ion binding	g.chr1:3511909G>A	AB011539	CCDS41237.1	1p36.3	2008-02-05	2006-03-31	2006-03-31	ENSG00000162591	ENSG00000162591			3232	protein-coding gene	gene with protein product		604266	"EGF-like-domain, multiple 3"	EGFL3		9693030	Standard	NM_001409		Approved		uc001akl.3	O75095	OTTHUMG00000000611	ENST00000356575.4:c.369C>T	1.37:g.3511909G>A							p.C123C	NM_001409.3	NP_001400.3	O75095	MEGF6_HUMAN		Epithelial(90;3.78e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.86e-22)|GBM - Glioblastoma multiforme(42;1.96e-12)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.000448)|BRCA - Breast invasive adenocarcinoma(365;0.000779)|KIRC - Kidney renal clear cell carcinoma(229;0.00645)|STAD - Stomach adenocarcinoma(132;0.00669)|Lung(427;0.213)	3	595	-	all_cancers(77;0.00681)|all_epithelial(69;0.00301)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.105)	all_epithelial(116;7.41e-22)|all_lung(118;8.3e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211)	123			EMI.		Q4AC86|Q5VV39	Silent	SNP	ENST00000356575.4	37	c.369C>T	CCDS41237.1																																																																																				0.687	MEGF6-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354866.1	NM_001409		12	26	0	0	0	1	0	12	26					A	3511909	G	A	3511909	2	1	435	1	0	0	0	0	0	0	0	1	9462	1195	42	3		3	MEGF6	1	3511909	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	94331	3511909	245738712	25	20950											
WDR8	49856	broad.mit.edu	37	chr1	3551600	3551600	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgcaggatgcccaaactcCgtgatcattttccaagtcac	10	10	8	13	1	2	1	2	1	0	0	4	2	4	2	3	1	3	2	3	1	2	2	rs374901046		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:3551600C>A	ENST00000270708.7	-	8	850	c.777G>T	c.(775-777)acG>acT	p.T259T	WRAP73_ENST00000378322.3_Silent_p.T259T	NM_017818.3	NP_060288.3	Q9P2S5	WRP73_HUMAN	WD repeat containing, antisense to TP73	259						centrosome (GO:0005813)|cytoplasm (GO:0005737)				endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|pancreas(1)	12						GCCCAAACTCCGTGATCATTT	0.567																																						ENST00000378322.3																			0				endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|pancreas(1)	12						c.(775-777)acG>acT		WD repeat containing, antisense to TP73							200	194	196					1																	3551600		2203	4300	6503	SO:0001819	synonymous_variant	49856					centrosome	protein binding	g.chr1:3551600C>A	AB034912, EF494669	CCDS48.1	1p36.3	2013-05-21	2011-04-13	2011-04-13	ENSG00000116213	ENSG00000116213		"WD repeat domain containing"	12759	protein-coding gene	gene with protein product		606040	"WD repeat domain 8"	WDR8			Standard	NM_017818		Approved		uc001ako.3	Q9P2S5	OTTHUMG00000000612	ENST00000270708.7:c.777G>T	1.37:g.3551600C>A						WRAP73_ENST00000270708.7_Silent_p.T259T	p.T259T			Q9P2S5	WRP73_HUMAN			8	835	-			259					Q5T0D6|Q9BUH7|Q9NTK7|Q9NX56	Silent	SNP	ENST00000270708.7	37	c.777G>T	CCDS48.1																																																																																				0.567	WRAP73-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001470.1			69	95	1	0	1.8615e-32	1	2.08843e-32	69	95					A	3551600	C	A	3551600	2	1	435	1	0	0	0	0	0	0	0	1	17326	639	23	5		5	WDR8	1	3551600	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	39691	3551600	245699021	26	20951											
TP73	7161	broad.mit.edu	37	chr1	3643784	3643784	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcatcatcaccctggagatgCgggagtgagtcccgggcaca	9	7	13	12	2	3	2	3	1	0	1	4	4	4	3	2	3	1	1	2	3	0	0	rs375226336		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:3643784C>T	ENST00000378295.4	+	7	993	c.838C>T	c.(838-840)Cgg>Tgg	p.R280W	TP73_ENST00000378290.4_Missense_Mutation_p.R209W|TP73_ENST00000346387.4_Missense_Mutation_p.R280W|TP73_ENST00000378285.1_Missense_Mutation_p.R231W|TP73_ENST00000604479.1_Missense_Mutation_p.R280W|TP73_ENST00000604074.1_Missense_Mutation_p.R280W|TP73_ENST00000603362.1_Missense_Mutation_p.R280W|TP73_ENST00000378280.1_Missense_Mutation_p.R231W|TP73_ENST00000378288.4_Missense_Mutation_p.R231W|TP73_ENST00000354437.4_Missense_Mutation_p.R280W|TP73_ENST00000357733.3_Missense_Mutation_p.R280W	NM_001204185.1|NM_005427.3	NP_001191114.1|NP_005418.1	O15350	P73_HUMAN	tumor protein p73	280	DNA-binding. {ECO:0000255}.				activation of MAPK activity (GO:0000187)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|cerebrospinal fluid secretion (GO:0033326)|digestive tract morphogenesis (GO:0048546)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|hippocampus development (GO:0021766)|inflammatory response (GO:0006954)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|kidney development (GO:0001822)|mismatch repair (GO:0006298)|mitotic G1 DNA damage checkpoint (GO:0031571)|negative regulation of JUN kinase activity (GO:0043508)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron development (GO:0048666)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell size (GO:0045793)|positive regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:1902167)|positive regulation of oligodendrocyte differentiation (GO:0048714)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|post-embryonic development (GO:0009791)|protein tetramerization (GO:0051262)|release of cytochrome c from mitochondria (GO:0001836)|response to gamma radiation (GO:0010332)|response to organonitrogen compound (GO:0010243)|response to X-ray (GO:0010165)|transcription, DNA-templated (GO:0006351)	chromatin (GO:0000785)|cytosol (GO:0005829)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|damaged DNA binding (GO:0003684)|double-stranded DNA binding (GO:0003690)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|p53 binding (GO:0002039)|protein kinase binding (GO:0019901)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|lung(8)|ovary(1)|prostate(1)	20	all_cancers(77;0.0395)|Ovarian(185;0.0634)|Lung NSC(156;0.188)|all_lung(157;0.198)	all_epithelial(116;7.42e-17)|all_lung(118;1.86e-06)|Lung NSC(185;0.000163)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Lung SC(97;0.109)|Ovarian(437;0.127)		Epithelial(90;5.57e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.87e-22)|GBM - Glioblastoma multiforme(42;5.72e-16)|Colorectal(212;2.22e-05)|COAD - Colon adenocarcinoma(227;8.48e-05)|Kidney(185;0.000539)|BRCA - Breast invasive adenocarcinoma(365;0.000868)|STAD - Stomach adenocarcinoma(132;0.0072)|KIRC - Kidney renal clear cell carcinoma(229;0.00751)|Lung(427;0.226)		CCTGGAGATGCGGGAGTGAGT	0.627																																						ENST00000378295.4																			0				breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|lung(8)|ovary(1)|prostate(1)	20						c.(838-840)Cgg>Tgg		tumor protein p73			TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG	1,4393	2.1+/-5.4	0,1,2196	59	50	53		691,691,691,838,838,838,838,838,691,691,691,625,838	2.5	1	1		53	0,8590		0,0,4295	no	missense,missense,missense,missense,missense,missense,missense,missense,missense,missense,missense,missense,missense	TP73	NM_001126240.2,NM_001126241.2,NM_001126242.2,NM_001204184.1,NM_001204185.1,NM_001204186.1,NM_001204187.1,NM_001204188.1,NM_001204189.1,NM_001204190.1,NM_001204191.1,NM_001204192.1,NM_005427.3	101,101,101,101,101,101,101,101,101,101,101,101,101	0,1,6491	TT,TC,CC		0.0,0.0228,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	231/588,231/451,231/427,280/500,280/476,280/404,280/556,280/541,231/355,231/507,231/492,209/566,280/637	3643784	1,12983	2197	4295	6492	SO:0001583	missense	7161				cellular response to UV|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|mismatch repair|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of JUN kinase activity|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|protein tetramerization|response to gamma radiation|response to X-ray	chromatin|cytosol|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|metal ion binding|p53 binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|transcription repressor activity	g.chr1:3643784C>T	AB055065	CCDS49.1, CCDS44049.1, CCDS44050.1, CCDS44051.1, CCDS55566.1, CCDS55567.1, CCDS55568.1, CCDS55569.1, CCDS59965.1	1p36.3	2010-06-15			ENSG00000078900	ENSG00000078900			12003	protein-coding gene	gene with protein product		601990				9296498, 9288759	Standard	NM_001204186		Approved	P73	uc001akp.3	O15350	OTTHUMG00000000610	ENST00000378295.4:c.838C>T	1.37:g.3643784C>T	ENSP00000367545:p.Arg280Trp					TP73_ENST00000603362.1_Missense_Mutation_p.R280W|TP73_ENST00000378290.4_Missense_Mutation_p.R209W|TP73_ENST00000378288.4_Missense_Mutation_p.R231W|TP73_ENST00000357733.3_Missense_Mutation_p.R280W|TP73_ENST00000354437.4_Missense_Mutation_p.R280W|TP73_ENST00000346387.4_Missense_Mutation_p.R280W|TP73_ENST00000604479.1_Missense_Mutation_p.R280W|TP73_ENST00000378280.1_Missense_Mutation_p.R231W|TP73_ENST00000378285.1_Missense_Mutation_p.R231W|TP73_ENST00000604074.1_Missense_Mutation_p.R280W	p.R280W	NM_001204185.1|NM_005427.3	NP_001191114.1|NP_005418.1	O15350	P73_HUMAN		Epithelial(90;5.57e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.87e-22)|GBM - Glioblastoma multiforme(42;5.72e-16)|Colorectal(212;2.22e-05)|COAD - Colon adenocarcinoma(227;8.48e-05)|Kidney(185;0.000539)|BRCA - Breast invasive adenocarcinoma(365;0.000868)|STAD - Stomach adenocarcinoma(132;0.0072)|KIRC - Kidney renal clear cell carcinoma(229;0.00751)|Lung(427;0.226)	7	993	+	all_cancers(77;0.0395)|Ovarian(185;0.0634)|Lung NSC(156;0.188)|all_lung(157;0.198)	all_epithelial(116;7.42e-17)|all_lung(118;1.86e-06)|Lung NSC(185;0.000163)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Lung SC(97;0.109)|Ovarian(437;0.127)	280			DNA-binding (Potential).		B7Z7J4|B7Z8Z1|B7Z9C1|C9J521|O15351|Q17RN8|Q5TBV5|Q5TBV6|Q8NHW9|Q8TDY5|Q8TDY6|Q9NTK8	Missense_Mutation	SNP	ENST00000378295.4	37	c.838C>T	CCDS49.1	.	.	.	.	.	.	.	.	.	.	C	15.40	2.823477	0.50739	2.28E-4	0.0	ENSG00000078900	ENST00000378295;ENST00000354437;ENST00000357733;ENST00000346387;ENST00000378288;ENST00000378285;ENST00000378280;ENST00000378290	D;D;D;D;D;D;D;D	0.99760	-6.66;-6.66;-6.66;-6.66;-6.66;-6.66;-6.66;-6.66	3.48	2.45	0.29901	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.111299	0.64402	D	0.000015	D	0.99387	0.9784	L	0.47716	1.5	0.58432	D	0.999996	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	P;D;P;P;D;D	0.67900	0.849;0.954;0.678;0.758;0.934;0.924	D	0.97590	1.0116	10	0.87932	D	0	-35.1764	8.4149	0.32666	0.4318:0.5682:0.0:0.0	.	231;231;231;231;280;280	B7Z8Z1;O15350-10;O15350-9;O15350-8;O15350-2;O15350	.;.;.;.;.;P73_HUMAN	W	280;280;280;280;231;231;231;209	ENSP00000367545:R280W;ENSP00000346423:R280W;ENSP00000350366:R280W;ENSP00000340740:R280W;ENSP00000367537:R231W;ENSP00000367534:R231W;ENSP00000367529:R231W;ENSP00000367539:R209W	ENSP00000340740:R280W	R	+	1	2	TP73	3633644	0.922000	0.31269	0.997000	0.53966	0.450000	0.32258	1.361000	0.34136	1.947000	0.56498	0.472000	0.43445	CGG		0.627	TP73-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001468.4	NM_005427		13	19	0	0	0	1	0	13	19					T	3643784	C	T	3643784	3	4	435	1	0	0	0	0	1	0	0	0	16390	759	27	1	903	1	TP73	1	3643784	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	92184	3643784	245606837	27	20952											
TP73	7161	broad.mit.edu	37	chr1	3648065	3648065	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtgtccaaactgcatcgagtAtttcacctcccaagggttac	10	11	8	12	1	1	0	1	0	0	0	4	1	3	0	3	1	3	3	3	1	4	3	rs369898417		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:3648065A>G	ENST00000378295.4	+	13	1678	c.1523A>G	c.(1522-1524)tAt>tGt	p.Y508C	TP73_ENST00000378290.4_Missense_Mutation_p.Y437C|TP73_ENST00000346387.4_Missense_Mutation_p.Y412C|TP73_ENST00000378285.1_Intron|TP73_ENST00000604479.1_Missense_Mutation_p.Y412C|TP73_ENST00000604074.1_Intron|TP73_ENST00000603362.1_Intron|TP73_ENST00000378280.1_Silent_p.V409V|TP73_ENST00000378288.4_Missense_Mutation_p.Y459C|TP73_ENST00000354437.4_Intron|TP73_ENST00000357733.3_Intron	NM_001204185.1|NM_005427.3	NP_001191114.1|NP_005418.1	O15350	P73_HUMAN	tumor protein p73	508	SAM.				activation of MAPK activity (GO:0000187)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|cerebrospinal fluid secretion (GO:0033326)|digestive tract morphogenesis (GO:0048546)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|hippocampus development (GO:0021766)|inflammatory response (GO:0006954)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|kidney development (GO:0001822)|mismatch repair (GO:0006298)|mitotic G1 DNA damage checkpoint (GO:0031571)|negative regulation of JUN kinase activity (GO:0043508)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron development (GO:0048666)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell size (GO:0045793)|positive regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:1902167)|positive regulation of oligodendrocyte differentiation (GO:0048714)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|post-embryonic development (GO:0009791)|protein tetramerization (GO:0051262)|release of cytochrome c from mitochondria (GO:0001836)|response to gamma radiation (GO:0010332)|response to organonitrogen compound (GO:0010243)|response to X-ray (GO:0010165)|transcription, DNA-templated (GO:0006351)	chromatin (GO:0000785)|cytosol (GO:0005829)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|damaged DNA binding (GO:0003684)|double-stranded DNA binding (GO:0003690)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|p53 binding (GO:0002039)|protein kinase binding (GO:0019901)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|lung(8)|ovary(1)|prostate(1)	20	all_cancers(77;0.0395)|Ovarian(185;0.0634)|Lung NSC(156;0.188)|all_lung(157;0.198)	all_epithelial(116;7.42e-17)|all_lung(118;1.86e-06)|Lung NSC(185;0.000163)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Lung SC(97;0.109)|Ovarian(437;0.127)		Epithelial(90;5.57e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.87e-22)|GBM - Glioblastoma multiforme(42;5.72e-16)|Colorectal(212;2.22e-05)|COAD - Colon adenocarcinoma(227;8.48e-05)|Kidney(185;0.000539)|BRCA - Breast invasive adenocarcinoma(365;0.000868)|STAD - Stomach adenocarcinoma(132;0.0072)|KIRC - Kidney renal clear cell carcinoma(229;0.00751)|Lung(427;0.226)		TGCATCGAGTATTTCACCTCC	0.542																																						ENST00000378295.4																			0				breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|lung(8)|ovary(1)|prostate(1)	20						c.(1522-1524)tAt>tGt		tumor protein p73		A	CYS/TYR,,,,,,,CYS/TYR,,,CYS/TYR,CYS/TYR,CYS/TYR	0,4404		0,0,2202	102	106	105		1376,,1227,,1374,,,1235,,,1088,1310,1523	3.3	1	1		105	1,8599	1.2+/-3.3	0,1,4299	no	missense,intron,coding-synonymous,intron,coding-synonymous,intron,intron,missense,intron,intron,missense,missense,missense	TP73	NM_001126240.2,NM_001126241.2,NM_001126242.2,NM_001204184.1,NM_001204185.1,NM_001204186.1,NM_001204187.1,NM_001204188.1,NM_001204189.1,NM_001204190.1,NM_001204191.1,NM_001204192.1,NM_005427.3	194,,,,,,,194,,,194,194,194	0,1,6501	GG,GA,AA		0.0116,0.0,0.0077	benign,,,,,,,benign,,,benign,benign,benign	459/588,,409/427,,458/476,,,412/541,,,363/492,437/566,508/637	3648065	1,13003	2202	4300	6502	SO:0001583	missense	7161				cellular response to UV|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|mismatch repair|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of JUN kinase activity|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|protein tetramerization|response to gamma radiation|response to X-ray	chromatin|cytosol|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|metal ion binding|p53 binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|transcription repressor activity	g.chr1:3648065A>G	AB055065	CCDS49.1, CCDS44049.1, CCDS44050.1, CCDS44051.1, CCDS55566.1, CCDS55567.1, CCDS55568.1, CCDS55569.1, CCDS59965.1	1p36.3	2010-06-15			ENSG00000078900	ENSG00000078900			12003	protein-coding gene	gene with protein product		601990				9296498, 9288759	Standard	NM_001204186		Approved	P73	uc001akp.3	O15350	OTTHUMG00000000610	ENST00000378295.4:c.1523A>G	1.37:g.3648065A>G	ENSP00000367545:p.Tyr508Cys					TP73_ENST00000603362.1_Intron|TP73_ENST00000378290.4_Missense_Mutation_p.Y437C|TP73_ENST00000378288.4_Missense_Mutation_p.Y459C|TP73_ENST00000357733.3_Intron|TP73_ENST00000354437.4_Intron|TP73_ENST00000346387.4_Missense_Mutation_p.Y412C|TP73_ENST00000604479.1_Missense_Mutation_p.Y412C|TP73_ENST00000378280.1_Silent_p.V409V|TP73_ENST00000378285.1_Intron|TP73_ENST00000604074.1_Intron	p.Y508C	NM_001204185.1|NM_005427.3	NP_001191114.1|NP_005418.1	O15350	P73_HUMAN		Epithelial(90;5.57e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.87e-22)|GBM - Glioblastoma multiforme(42;5.72e-16)|Colorectal(212;2.22e-05)|COAD - Colon adenocarcinoma(227;8.48e-05)|Kidney(185;0.000539)|BRCA - Breast invasive adenocarcinoma(365;0.000868)|STAD - Stomach adenocarcinoma(132;0.0072)|KIRC - Kidney renal clear cell carcinoma(229;0.00751)|Lung(427;0.226)	13	1678	+	all_cancers(77;0.0395)|Ovarian(185;0.0634)|Lung NSC(156;0.188)|all_lung(157;0.198)	all_epithelial(116;7.42e-17)|all_lung(118;1.86e-06)|Lung NSC(185;0.000163)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Lung SC(97;0.109)|Ovarian(437;0.127)	508			SAM.		B7Z7J4|B7Z8Z1|B7Z9C1|C9J521|O15351|Q17RN8|Q5TBV5|Q5TBV6|Q8NHW9|Q8TDY5|Q8TDY6|Q9NTK8	Missense_Mutation	SNP	ENST00000378295.4	37	c.1523A>G	CCDS49.1	.	.	.	.	.	.	.	.	.	.	A	13.42	2.230585	0.39399	0.0	1.16E-4	ENSG00000078900	ENST00000378295;ENST00000346387;ENST00000378288;ENST00000378290	D;D;D;D	0.84800	-1.9;-1.9;-1.9;-1.9	5.58	3.28	0.37604	Sterile alpha motif domain (1);Sterile alpha motif/pointed domain (2);Sterile alpha motif, type 2 (1);	0.118831	0.64402	N	0.000015	T	0.78641	0.4315	.	.	.	0.53005	D	0.999966	B;B	0.17038	0.005;0.02	B;B	0.23716	0.017;0.048	T	0.69684	-0.5079	9	0.41790	T	0.15	-0.5873	8.4941	0.33117	0.8396:0.0:0.1604:0.0	.	459;508	O15350-8;O15350	.;P73_HUMAN	C	508;412;459;437	ENSP00000367545:Y508C;ENSP00000340740:Y412C;ENSP00000367537:Y459C;ENSP00000367539:Y437C	ENSP00000340740:Y412C	Y	+	2	0	TP73	3637925	1.000000	0.71417	0.988000	0.46212	0.914000	0.54420	3.733000	0.55029	0.419000	0.25927	0.459000	0.35465	TAT		0.542	TP73-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001468.4	NM_005427		62	78	0	0	0	1	0	62	78					G	3648065	A	G	3648065	3	3	435	1	0	0	0	0	1	0	0	0	16390	449	16	4	1612	4	TP73	1	3648065	Missense_Mutation	SNP	A	TCGA-XK-AAIW-01A-11D-A41K-08	4281	3648065	245602556	28	20953											
KIAA0562	9731	broad.mit.edu	37	chr1	3755674	3755674	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tacctcatacctcccaaggcGttcaccaacctgaagcacaa	13	7	5	16	1	2	1	2	1	0	0	3	1	3	1	5	1	4	2	5	1	6	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:3755674G>A	ENST00000378230.3	-	8	1069	c.745C>T	c.(745-747)Cgc>Tgc	p.R249C	CEP104_ENST00000460038.1_5'Flank	NM_014704.3	NP_055519.1	O60308	CE104_HUMAN	centrosomal protein 104kDa	249						centriole (GO:0005814)	glutamate binding (GO:0016595)|glycine binding (GO:0016594)|thienylcyclohexylpiperidine binding (GO:0016596)			breast(2)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(14)|lung(8)|prostate(1)|skin(3)	39						CTCCCAAGGCGTTCACCAACC	0.453																																						ENST00000378230.3																			0				breast(2)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(14)|lung(8)|prostate(1)|skin(3)	39						c.(745-747)Cgc>Tgc		centrosomal protein 104kDa							116	106	109					1																	3755674		2203	4300	6503	SO:0001583	missense	9731					centriole	binding	g.chr1:3755674G>A	AB011134	CCDS30571.1	1p36.32	2014-02-20	2011-05-06	2011-05-06	ENSG00000116198	ENSG00000116198			24866	protein-coding gene	gene with protein product	"glycine, glutamate, thienylcyclohexylpiperidine binding protein"		"KIAA0562"	KIAA0562		7488117, 21399614	Standard	NM_014704		Approved	GlyBP, RP1-286D6.4	uc001aky.2	O60308	OTTHUMG00000003507	ENST00000378230.3:c.745C>T	1.37:g.3755674G>A	ENSP00000367476:p.Arg249Cys						p.R249C	NM_014704.3	NP_055519.1	O60308	CE104_HUMAN			8	1069	-			249					Q5JSQ3|Q5SR24|Q5SR25|Q6PKF5|Q86W32|Q86X14	Missense_Mutation	SNP	ENST00000378230.3	37	c.745C>T	CCDS30571.1	.	.	.	.	.	.	.	.	.	.	G	16.20	3.054734	0.55325	.	.	ENSG00000116198	ENST00000378230;ENST00000443466;ENST00000428079	T;T	0.60299	1.3;0.2	5.25	5.25	0.73442	.	0.061993	0.64402	D	0.000003	T	0.78710	0.4326	M	0.84433	2.695	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.978;0.997	T	0.82440	-0.0456	10	0.87932	D	0	.	15.9911	0.80206	0.0:0.0:1.0:0.0	.	249;249	O60308-3;O60308	.;CE104_HUMAN	C	249;1;191	ENSP00000367476:R249C;ENSP00000411927:R1C	ENSP00000367476:R249C	R	-	1	0	CEP104	3745534	1.000000	0.71417	0.971000	0.41717	0.419000	0.31324	5.111000	0.64628	2.450000	0.82876	0.655000	0.94253	CGC		0.453	CEP104-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009747.3	NM_014704		32	52	0	0	0	1	0	32	52					A	3755674	G	A	3755674	3	1	435	1	0	0	0	0	1	0	0	0	8184	1145	40	1	2092	1	KIAA0562	1	3755674	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	107609	3755674	245494947	29	20954											
KIAA0562	9731	broad.mit.edu	37	chr1	3768889	3768889	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccacccactgacagttggcGcgtggatcatgagctcccgg	7	7	13	14	3	1	2	1	2	0	0	2	3	2	3	3	3	1	2	3	3	0	1	rs150169294		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:3768889G>A	ENST00000378230.3	-	2	407	c.83C>T	c.(82-84)gCg>gTg	p.A28V	CEP104_ENST00000378223.3_Missense_Mutation_p.A28V	NM_014704.3	NP_055519.1	O60308	CE104_HUMAN	centrosomal protein 104kDa	28						centriole (GO:0005814)	glutamate binding (GO:0016595)|glycine binding (GO:0016594)|thienylcyclohexylpiperidine binding (GO:0016596)			breast(2)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(14)|lung(8)|prostate(1)|skin(3)	39						GACAGTTGGCGCGTGGATCAT	0.627																																						ENST00000378230.3																			0				breast(2)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(14)|lung(8)|prostate(1)|skin(3)	39						c.(82-84)gCg>gTg		centrosomal protein 104kDa		G	VAL/ALA	0,4406		0,0,2203	63	56	58		83	5.2	0.5	1	dbSNP_134	58	1,8599	1.2+/-3.3	0,1,4299	no	missense	CEP104	NM_014704.3	64	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	28/926	3768889	1,13005	2203	4300	6503	SO:0001583	missense	9731					centriole	binding	g.chr1:3768889G>A	AB011134	CCDS30571.1	1p36.32	2014-02-20	2011-05-06	2011-05-06	ENSG00000116198	ENSG00000116198			24866	protein-coding gene	gene with protein product	"glycine, glutamate, thienylcyclohexylpiperidine binding protein"		"KIAA0562"	KIAA0562		7488117, 21399614	Standard	NM_014704		Approved	GlyBP, RP1-286D6.4	uc001aky.2	O60308	OTTHUMG00000003507	ENST00000378230.3:c.83C>T	1.37:g.3768889G>A	ENSP00000367476:p.Ala28Val					CEP104_ENST00000378223.3_Missense_Mutation_p.A28V	p.A28V	NM_014704.3	NP_055519.1	O60308	CE104_HUMAN			2	407	-			28					Q5JSQ3|Q5SR24|Q5SR25|Q6PKF5|Q86W32|Q86X14	Missense_Mutation	SNP	ENST00000378230.3	37	c.83C>T	CCDS30571.1	.	.	.	.	.	.	.	.	.	.	G	16.87	3.242160	0.58995	0.0	1.16E-4	ENSG00000116198	ENST00000378230;ENST00000428079;ENST00000378223	T;T	0.80214	-1.35;-1.35	5.2	5.2	0.72013	Galactose-binding domain-like (1);	0.000000	0.85682	D	0.000000	D	0.88081	0.6341	L	0.58669	1.825	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.85130	0.983;0.997	D	0.88416	0.3025	10	0.54805	T	0.06	.	17.7109	0.88321	0.0:0.0:1.0:0.0	.	28;28	O60308-3;O60308	.;CE104_HUMAN	V	28	ENSP00000367476:A28V;ENSP00000367468:A28V	ENSP00000367468:A28V	A	-	2	0	CEP104	3758749	1.000000	0.71417	0.481000	0.27354	0.226000	0.24999	7.716000	0.84723	2.406000	0.81754	0.467000	0.42956	GCG		0.627	CEP104-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009747.3	NM_014704		5	22	0	0	0	1	0	5	22					A	3768889	G	A	3768889	3	1	435	1	0	0	0	0	1	0	0	0	8184	1087	38	1	2778	1	KIAA0562	1	3768889	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	13215	3768889	245481732	30	20955											
NPHP4	261734	broad.mit.edu	37	chr1	5924497	5924497	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgagatggacaaagcggctGccggccctaaggggcctcac	9	6	14	12	2	1	1	1	1	0	1	1	3	1	2	3	5	2	1	3	5	2	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:5924497G>A	ENST00000378156.4	-	28	4162	c.3897C>T	c.(3895-3897)ggC>ggT	p.G1299G	NPHP4_ENST00000478423.2_5'UTR|MIR4689_ENST00000582517.1_RNA	NM_015102.3	NP_055917.1	O75161	NPHP4_HUMAN	nephronophthisis 4	1299					actin cytoskeleton organization (GO:0030036)|hippo signaling (GO:0035329)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|retina development in camera-type eye (GO:0060041)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|visual behavior (GO:0007632)	cell-cell junction (GO:0005911)|centrosome (GO:0005813)|cytosol (GO:0005829)|membrane (GO:0016020)|nonmotile primary cilium (GO:0031513)|tight junction (GO:0005923)	structural molecule activity (GO:0005198)			NS(1)|breast(2)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(4)	47	Ovarian(185;0.0634)	all_cancers(23;7.53e-41)|all_epithelial(116;3.96e-23)|all_lung(118;5.12e-09)|all_hematologic(16;5.45e-07)|Lung NSC(185;5.49e-07)|all_neural(13;3.21e-06)|Acute lymphoblastic leukemia(12;3.44e-05)|Breast(487;0.000601)|Renal(390;0.0007)|Colorectal(325;0.00113)|Hepatocellular(190;0.00213)|Glioma(11;0.00223)|Myeloproliferative disorder(586;0.0256)|Ovarian(437;0.04)|Lung SC(97;0.128)|Medulloblastoma(700;0.213)		Epithelial(90;1.69e-36)|GBM - Glioblastoma multiforme(13;5.07e-29)|OV - Ovarian serous cystadenocarcinoma(86;1.05e-19)|Colorectal(212;4.54e-07)|COAD - Colon adenocarcinoma(227;3.14e-05)|Kidney(185;0.00012)|BRCA - Breast invasive adenocarcinoma(365;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00179)|STAD - Stomach adenocarcinoma(132;0.00472)|READ - Rectum adenocarcinoma(331;0.0649)		CAAAGCGGCTGCCGGCCCTAA	0.647																																						ENST00000378156.4																			0				NS(1)|breast(2)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(4)	47						c.(3895-3897)ggC>ggT		nephronophthisis 4							16	22	20					1																	5924497		2021	4160	6181	SO:0001819	synonymous_variant	261734				actin cytoskeleton organization|cell-cell adhesion|signal transduction|visual behavior	cell-cell junction|centrosome|cilium|microtubule basal body	protein binding|structural molecule activity	g.chr1:5924497G>A	AB014573	CCDS44052.1	1p36	2010-03-26			ENSG00000131697	ENSG00000131697			19104	protein-coding gene	gene with protein product	"nephroretinin", "nephrocystin-4", "POC10 centriolar protein homolog (Chlamydomonas)"	607215				11920287, 12205563	Standard	XR_244787		Approved	SLSN4, KIAA0673, POC10	uc001alq.2	O75161	OTTHUMG00000000701	ENST00000378156.4:c.3897C>T	1.37:g.5924497G>A						NPHP4_ENST00000478423.2_5'UTR	p.G1299G	NM_015102.3	NP_055917.1	O75161	NPHP4_HUMAN		Epithelial(90;1.69e-36)|GBM - Glioblastoma multiforme(13;5.07e-29)|OV - Ovarian serous cystadenocarcinoma(86;1.05e-19)|Colorectal(212;4.54e-07)|COAD - Colon adenocarcinoma(227;3.14e-05)|Kidney(185;0.00012)|BRCA - Breast invasive adenocarcinoma(365;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00179)|STAD - Stomach adenocarcinoma(132;0.00472)|READ - Rectum adenocarcinoma(331;0.0649)	28	4162	-	Ovarian(185;0.0634)	all_cancers(23;7.53e-41)|all_epithelial(116;3.96e-23)|all_lung(118;5.12e-09)|all_hematologic(16;5.45e-07)|Lung NSC(185;5.49e-07)|all_neural(13;3.21e-06)|Acute lymphoblastic leukemia(12;3.44e-05)|Breast(487;0.000601)|Renal(390;0.0007)|Colorectal(325;0.00113)|Hepatocellular(190;0.00213)|Glioma(11;0.00223)|Myeloproliferative disorder(586;0.0256)|Ovarian(437;0.04)|Lung SC(97;0.128)|Medulloblastoma(700;0.213)	1299					Q8IWC0	Silent	SNP	ENST00000378156.4	37	c.3897C>T	CCDS44052.1																																																																																				0.647	NPHP4-001	KNOWN	non_canonical_polymorphism|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001715.2			6	14	0	0	0	1	0	6	14					A	5924497	G	A	5924497	2	1	435	1	0	0	0	0	0	0	0	1	10581	1306	46	3		3	NPHP4	1	5924497	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	2155608	5924497	243326124	31	20956											
NPHP4	261734	broad.mit.edu	37	chr1	5927957	5927957	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccactcgctcggaacaagacCtgtgaggaggccacgctgag	10	5	13	13	3	0	3	0	2	0	1	2	5	0	5	3	3	1	2	3	3	2	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:5927957C>A	ENST00000378156.4	-	24	3581		c.e24-1		NPHP4_ENST00000478423.2_Splice_Site	NM_015102.3	NP_055917.1	O75161	NPHP4_HUMAN	nephronophthisis 4						actin cytoskeleton organization (GO:0030036)|hippo signaling (GO:0035329)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|retina development in camera-type eye (GO:0060041)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|visual behavior (GO:0007632)	cell-cell junction (GO:0005911)|centrosome (GO:0005813)|cytosol (GO:0005829)|membrane (GO:0016020)|nonmotile primary cilium (GO:0031513)|tight junction (GO:0005923)	structural molecule activity (GO:0005198)			NS(1)|breast(2)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(4)	47	Ovarian(185;0.0634)	all_cancers(23;7.53e-41)|all_epithelial(116;3.96e-23)|all_lung(118;5.12e-09)|all_hematologic(16;5.45e-07)|Lung NSC(185;5.49e-07)|all_neural(13;3.21e-06)|Acute lymphoblastic leukemia(12;3.44e-05)|Breast(487;0.000601)|Renal(390;0.0007)|Colorectal(325;0.00113)|Hepatocellular(190;0.00213)|Glioma(11;0.00223)|Myeloproliferative disorder(586;0.0256)|Ovarian(437;0.04)|Lung SC(97;0.128)|Medulloblastoma(700;0.213)		Epithelial(90;1.69e-36)|GBM - Glioblastoma multiforme(13;5.07e-29)|OV - Ovarian serous cystadenocarcinoma(86;1.05e-19)|Colorectal(212;4.54e-07)|COAD - Colon adenocarcinoma(227;3.14e-05)|Kidney(185;0.00012)|BRCA - Breast invasive adenocarcinoma(365;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00179)|STAD - Stomach adenocarcinoma(132;0.00472)|READ - Rectum adenocarcinoma(331;0.0649)		GGAACAAGACCTGTGAGGAGG	0.602																																						ENST00000378156.4																			0				NS(1)|breast(2)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(4)	47						c.e24-1		nephronophthisis 4							50	58	55					1																	5927957		2165	4260	6425	SO:0001630	splice_region_variant	261734				actin cytoskeleton organization|cell-cell adhesion|signal transduction|visual behavior	cell-cell junction|centrosome|cilium|microtubule basal body	protein binding|structural molecule activity	g.chr1:5927957C>A	AB014573	CCDS44052.1	1p36	2010-03-26			ENSG00000131697	ENSG00000131697			19104	protein-coding gene	gene with protein product	"nephroretinin", "nephrocystin-4", "POC10 centriolar protein homolog (Chlamydomonas)"	607215				11920287, 12205563	Standard	XR_244787		Approved	SLSN4, KIAA0673, POC10	uc001alq.2	O75161	OTTHUMG00000000701	ENST00000378156.4:c.3316-1G>T	1.37:g.5927957C>A						NPHP4_ENST00000478423.2_Splice_Site		NM_015102.3	NP_055917.1	O75161	NPHP4_HUMAN		Epithelial(90;1.69e-36)|GBM - Glioblastoma multiforme(13;5.07e-29)|OV - Ovarian serous cystadenocarcinoma(86;1.05e-19)|Colorectal(212;4.54e-07)|COAD - Colon adenocarcinoma(227;3.14e-05)|Kidney(185;0.00012)|BRCA - Breast invasive adenocarcinoma(365;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00179)|STAD - Stomach adenocarcinoma(132;0.00472)|READ - Rectum adenocarcinoma(331;0.0649)	24	3581	-	Ovarian(185;0.0634)	all_cancers(23;7.53e-41)|all_epithelial(116;3.96e-23)|all_lung(118;5.12e-09)|all_hematologic(16;5.45e-07)|Lung NSC(185;5.49e-07)|all_neural(13;3.21e-06)|Acute lymphoblastic leukemia(12;3.44e-05)|Breast(487;0.000601)|Renal(390;0.0007)|Colorectal(325;0.00113)|Hepatocellular(190;0.00213)|Glioma(11;0.00223)|Myeloproliferative disorder(586;0.0256)|Ovarian(437;0.04)|Lung SC(97;0.128)|Medulloblastoma(700;0.213)						Q8IWC0	Splice_Site	SNP	ENST00000378156.4	37		CCDS44052.1	.	.	.	.	.	.	.	.	.	.	C	12.93	2.085752	0.36758	.	.	ENSG00000131697	ENST00000378156	.	.	.	5.57	5.57	0.84162	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.5351	0.91008	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	NPHP4	5850544	1.000000	0.71417	0.998000	0.56505	0.061000	0.15899	7.682000	0.84083	2.619000	0.88677	0.561000	0.74099	.		0.602	NPHP4-001	KNOWN	non_canonical_polymorphism|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001715.2		Intron	6	21	1	0	0.217242	1	0.217582	6	21					A	5927957	C	A	5927957	5	1	435	1	0	0	0	0	0	0	1	0	10581	695	24	5	993	5	NPHP4	1	5927957	Splice_Site	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	3460	5927957	243322664	32	20957											
NPHP4	261734	broad.mit.edu	37	chr1	5965426	5965426	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcttccttctgagggttaaaCgtcacaggttctgtagcgct	7	14	10	10	2	4	1	1	1	3	0	5	1	5	1	1	2	2	4	1	2	3	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:5965426C>T	ENST00000378156.4	-	15	2146	c.1881G>A	c.(1879-1881)acG>acA	p.T627T	NPHP4_ENST00000478423.2_5'UTR	NM_015102.3	NP_055917.1	O75161	NPHP4_HUMAN	nephronophthisis 4	627			T -> M (in SLSN4; dbSNP:rs199891059). {ECO:0000269|PubMed:15776426}.		actin cytoskeleton organization (GO:0030036)|hippo signaling (GO:0035329)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|retina development in camera-type eye (GO:0060041)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|visual behavior (GO:0007632)	cell-cell junction (GO:0005911)|centrosome (GO:0005813)|cytosol (GO:0005829)|membrane (GO:0016020)|nonmotile primary cilium (GO:0031513)|tight junction (GO:0005923)	structural molecule activity (GO:0005198)			NS(1)|breast(2)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(4)	47	Ovarian(185;0.0634)	all_cancers(23;7.53e-41)|all_epithelial(116;3.96e-23)|all_lung(118;5.12e-09)|all_hematologic(16;5.45e-07)|Lung NSC(185;5.49e-07)|all_neural(13;3.21e-06)|Acute lymphoblastic leukemia(12;3.44e-05)|Breast(487;0.000601)|Renal(390;0.0007)|Colorectal(325;0.00113)|Hepatocellular(190;0.00213)|Glioma(11;0.00223)|Myeloproliferative disorder(586;0.0256)|Ovarian(437;0.04)|Lung SC(97;0.128)|Medulloblastoma(700;0.213)		Epithelial(90;1.69e-36)|GBM - Glioblastoma multiforme(13;5.07e-29)|OV - Ovarian serous cystadenocarcinoma(86;1.05e-19)|Colorectal(212;4.54e-07)|COAD - Colon adenocarcinoma(227;3.14e-05)|Kidney(185;0.00012)|BRCA - Breast invasive adenocarcinoma(365;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00179)|STAD - Stomach adenocarcinoma(132;0.00472)|READ - Rectum adenocarcinoma(331;0.0649)		GAGGGTTAAACGTCACAGGTT	0.493																																						ENST00000378156.4																			0				NS(1)|breast(2)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(4)	47						c.(1879-1881)acG>acA		nephronophthisis 4							142	141	141					1																	5965426		1979	4172	6151	SO:0001819	synonymous_variant	261734				actin cytoskeleton organization|cell-cell adhesion|signal transduction|visual behavior	cell-cell junction|centrosome|cilium|microtubule basal body	protein binding|structural molecule activity	g.chr1:5965426C>T	AB014573	CCDS44052.1	1p36	2010-03-26			ENSG00000131697	ENSG00000131697			19104	protein-coding gene	gene with protein product	"nephroretinin", "nephrocystin-4", "POC10 centriolar protein homolog (Chlamydomonas)"	607215				11920287, 12205563	Standard	XR_244787		Approved	SLSN4, KIAA0673, POC10	uc001alq.2	O75161	OTTHUMG00000000701	ENST00000378156.4:c.1881G>A	1.37:g.5965426C>T						NPHP4_ENST00000478423.2_5'UTR	p.T627T	NM_015102.3	NP_055917.1	O75161	NPHP4_HUMAN		Epithelial(90;1.69e-36)|GBM - Glioblastoma multiforme(13;5.07e-29)|OV - Ovarian serous cystadenocarcinoma(86;1.05e-19)|Colorectal(212;4.54e-07)|COAD - Colon adenocarcinoma(227;3.14e-05)|Kidney(185;0.00012)|BRCA - Breast invasive adenocarcinoma(365;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00179)|STAD - Stomach adenocarcinoma(132;0.00472)|READ - Rectum adenocarcinoma(331;0.0649)	15	2146	-	Ovarian(185;0.0634)	all_cancers(23;7.53e-41)|all_epithelial(116;3.96e-23)|all_lung(118;5.12e-09)|all_hematologic(16;5.45e-07)|Lung NSC(185;5.49e-07)|all_neural(13;3.21e-06)|Acute lymphoblastic leukemia(12;3.44e-05)|Breast(487;0.000601)|Renal(390;0.0007)|Colorectal(325;0.00113)|Hepatocellular(190;0.00213)|Glioma(11;0.00223)|Myeloproliferative disorder(586;0.0256)|Ovarian(437;0.04)|Lung SC(97;0.128)|Medulloblastoma(700;0.213)	627		T -> M (in SLSN4).			Q8IWC0	Silent	SNP	ENST00000378156.4	37	c.1881G>A	CCDS44052.1																																																																																				0.493	NPHP4-001	KNOWN	non_canonical_polymorphism|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001715.2			4	138	0	0	0	1	0	4	138					T	5965426	C	T	5965426	2	4	435	1	0	0	0	0	0	0	0	1	10581	523	19	1		1	NPHP4	1	5965426	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	37469	5965426	243285195	33	20958											
CHD5	26038	broad.mit.edu	37	chr1	6166714	6166714	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cccggcgcggttggtcaggcGgctcaggatgctgcgctccg	3	7	17	14	6	2	0	2	0	0	0	3	1	3	1	2	6	2	4	2	6	0	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:6166714G>A	ENST00000262450.3	-	39	5803	c.5704C>T	c.(5704-5706)Cgc>Tgc	p.R1902C	CHD5_ENST00000378021.1_Missense_Mutation_p.R759C	NM_015557.2	NP_056372.1	O00258	WRB_HUMAN	chromodomain helicase DNA binding protein 5	0					tail-anchored membrane protein insertion into ER membrane (GO:0071816)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)				breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		TTGGTCAGGCGGCTCAGGATG	0.736																																						ENST00000262450.3																			0				breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16						c.(5704-5706)Cgc>Tgc		chromodomain helicase DNA binding protein 5							10	12	11					1																	6166714		2167	4272	6439	SO:0001583	missense	26038				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding	g.chr1:6166714G>A	AF425231	CCDS57.1	1p36.3	2013-01-28			ENSG00000116254	ENSG00000116254		"Zinc fingers, PHD-type"	16816	protein-coding gene	gene with protein product		610771				11889561, 12592387	Standard	NM_015557		Approved		uc001amb.2	Q8TDI0	OTTHUMG00000000952	ENST00000262450.3:c.5704C>T	1.37:g.6166714G>A	ENSP00000262450:p.Arg1902Cys					CHD5_ENST00000378021.1_Missense_Mutation_p.R759C	p.R1902C	NM_015557.2	NP_056372.1	Q8TDI0	CHD5_HUMAN		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)	39	5803	-	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)	1902					A8KAP8|A8MQ44|D3DSH9|O60740	Missense_Mutation	SNP	ENST00000262450.3	37	c.5704C>T	CCDS57.1	.	.	.	.	.	.	.	.	.	.	g	21.8	4.199171	0.79015	.	.	ENSG00000116254	ENST00000262450;ENST00000378021;ENST00000377999	D;T	0.94650	-3.48;1.6	4.46	4.46	0.54185	CHD, C-terminal 2 (1);	0.000000	0.64402	D	0.000002	D	0.96608	0.8893	M	0.75447	2.3	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	D	0.96859	0.9631	10	0.87932	D	0	-26.2894	12.5687	0.56323	0.0:0.0:0.8337:0.1663	.	1902;759	Q8TDI0;Q5TG85	CHD5_HUMAN;.	C	1902;759;759	ENSP00000262450:R1902C;ENSP00000367260:R759C	ENSP00000262450:R1902C	R	-	1	0	CHD5	6089301	1.000000	0.71417	1.000000	0.80357	0.745000	0.42441	5.053000	0.64269	2.204000	0.70986	0.313000	0.20887	CGC		0.736	CHD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000002823.2	NM_015557		8	4	0	0	0	1	0	8	4					A	6166714	G	A	6166714	3	1	435	1	0	0	0	0	1	0	0	0	3328	1116	39	2	172	2	CHD5	1	6166714	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	201288	6166714	243083907	34	20959											
CHD5	26038	broad.mit.edu	37	chr1	6194781	6194781	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tggccggggaaacctaccacGgcagccacagggaagaggta	12	3	15	11	2	0	1	0	0	0	1	0	3	0	3	4	6	3	2	4	6	4	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:6194781G>A	ENST00000262450.3	-	19	3108	c.3009C>T	c.(3007-3009)gcC>gcT	p.A1003A	CHD5_ENST00000378021.1_5'UTR	NM_015557.2	NP_056372.1	O00258	WRB_HUMAN	chromodomain helicase DNA binding protein 5	0					tail-anchored membrane protein insertion into ER membrane (GO:0071816)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)				breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		AACCTACCACGGCAGCCACAG	0.592																																						ENST00000262450.3																			0				breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16						c.(3007-3009)gcC>gcT		chromodomain helicase DNA binding protein 5							158	170	166					1																	6194781		2203	4300	6503	SO:0001819	synonymous_variant	26038				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding	g.chr1:6194781G>A	AF425231	CCDS57.1	1p36.3	2013-01-28			ENSG00000116254	ENSG00000116254		"Zinc fingers, PHD-type"	16816	protein-coding gene	gene with protein product		610771				11889561, 12592387	Standard	NM_015557		Approved		uc001amb.2	Q8TDI0	OTTHUMG00000000952	ENST00000262450.3:c.3009C>T	1.37:g.6194781G>A						CHD5_ENST00000378021.1_5'UTR	p.A1003A	NM_015557.2	NP_056372.1	Q8TDI0	CHD5_HUMAN		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)	19	3108	-	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)	1003					A8KAP8|A8MQ44|D3DSH9|O60740	Silent	SNP	ENST00000262450.3	37	c.3009C>T	CCDS57.1																																																																																				0.592	CHD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000002823.2	NM_015557		28	42	0	0	0	1	0	28	42					A	6194781	G	A	6194781	2	1	435	1	0	0	0	0	0	0	0	1	3328	1103	39	2		2	CHD5	1	6194781	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	28067	6194781	243055840	35	20960											
CHD5	26038	broad.mit.edu	37	chr1	6202613	6202613	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagctggtacgggtgcagtGtgccgcctgtggagtcgatg	5	9	17	10	3	0	0	0	0	0	0	1	2	0	1	3	3	4	3	3	3	1	1	rs201805131		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:6202613G>A	ENST00000262450.3	-	14	2195	c.2096C>T	c.(2095-2097)aCa>aTa	p.T699I	CHD5_ENST00000378021.1_5'UTR	NM_015557.2	NP_056372.1	O00258	WRB_HUMAN	chromodomain helicase DNA binding protein 5	0					tail-anchored membrane protein insertion into ER membrane (GO:0071816)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)				breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		CGGGTGCAGTGTGCCGCCTGT	0.642																																						ENST00000262450.3																			0				breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16						c.(2095-2097)aCa>aTa		chromodomain helicase DNA binding protein 5							130	91	104					1																	6202613		2203	4300	6503	SO:0001583	missense	26038				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding	g.chr1:6202613G>A	AF425231	CCDS57.1	1p36.3	2013-01-28			ENSG00000116254	ENSG00000116254		"Zinc fingers, PHD-type"	16816	protein-coding gene	gene with protein product		610771				11889561, 12592387	Standard	NM_015557		Approved		uc001amb.2	Q8TDI0	OTTHUMG00000000952	ENST00000262450.3:c.2096C>T	1.37:g.6202613G>A	ENSP00000262450:p.Thr699Ile					CHD5_ENST00000378021.1_5'UTR	p.T699I	NM_015557.2	NP_056372.1	Q8TDI0	CHD5_HUMAN		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)	14	2195	-	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)	699					A8KAP8|A8MQ44|D3DSH9|O60740	Missense_Mutation	SNP	ENST00000262450.3	37	c.2096C>T	CCDS57.1	.	.	.	.	.	.	.	.	.	.	G	14.24	2.476527	0.44044	.	.	ENSG00000116254	ENST00000262450;ENST00000378006;ENST00000536802;ENST00000538279	D	0.93659	-3.26	3.43	3.43	0.39272	DEAD-like helicase (1);	0.000000	0.85682	D	0.000000	D	0.95072	0.8404	M	0.69823	2.125	0.80722	D	1	D	0.69078	0.997	P	0.57911	0.829	D	0.95153	0.8274	10	0.51188	T	0.08	-16.9347	15.3972	0.74805	0.0:0.0:1.0:0.0	.	699	Q8TDI0	CHD5_HUMAN	I	699;215;107;107	ENSP00000262450:T699I	ENSP00000262450:T699I	T	-	2	0	CHD5	6125200	1.000000	0.71417	0.985000	0.45067	0.782000	0.44232	7.536000	0.82023	1.895000	0.54865	0.561000	0.74099	ACA		0.642	CHD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000002823.2	NM_015557		19	41	0	0	0	1	0	19	41					A	6202613	G	A	6202613	3	1	435	1	0	0	0	0	1	0	0	0	3328	1377	48	3	3880	3	CHD5	1	6202613	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	7832	6202613	243048008	36	20961											
GPR153	387509	broad.mit.edu	37	chr1	6314106	6314106	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catgggtgtagaagcgctcgCtggtgtcgtgccagccaacg	7	8	15	11	4	0	1	0	0	0	1	2	1	0	1	2	2	4	3	2	2	3	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:6314106C>A	ENST00000377893.2	-	3	717	c.458G>T	c.(457-459)aGc>aTc	p.S153I		NM_207370.2	NP_997253.2	Q6NV75	GP153_HUMAN	G protein-coupled receptor 153	153						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|liver(1)|lung(7)|skin(1)	14	Ovarian(185;0.0634)	all_cancers(23;8.07e-33)|all_epithelial(116;4.45e-18)|all_lung(118;1.09e-06)|all_neural(13;3.68e-06)|Lung NSC(185;1.52e-05)|all_hematologic(16;2.39e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00475)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;1.91e-37)|GBM - Glioblastoma multiforme(13;4.87e-29)|OV - Ovarian serous cystadenocarcinoma(86;3.03e-19)|Colorectal(212;1.33e-07)|COAD - Colon adenocarcinoma(227;1.36e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|BRCA - Breast invasive adenocarcinoma(365;0.00109)|STAD - Stomach adenocarcinoma(132;0.00313)|READ - Rectum adenocarcinoma(331;0.0642)|Lung(427;0.246)		GAAGCGCTCGCTGGTGTCGTG	0.632																																						ENST00000377893.2																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|liver(1)|lung(7)|skin(1)	14						c.(457-459)aGc>aTc		G protein-coupled receptor 153							65	70	68					1																	6314106		2202	4299	6501	SO:0001583	missense	387509					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr1:6314106C>A	AY255529	CCDS64.1	1p36.31	2012-08-21			ENSG00000158292	ENSG00000158292		"GPCR / Class A : Orphans"	23618	protein-coding gene	gene with protein product		614269				12679517	Standard	NM_207370		Approved	PGR1	uc001amp.2	Q6NV75	OTTHUMG00000001272	ENST00000377893.2:c.458G>T	1.37:g.6314106C>A	ENSP00000367125:p.Ser153Ile						p.S153I	NM_207370.2	NP_997253.2	Q6NV75	GP153_HUMAN		Epithelial(90;1.91e-37)|GBM - Glioblastoma multiforme(13;4.87e-29)|OV - Ovarian serous cystadenocarcinoma(86;3.03e-19)|Colorectal(212;1.33e-07)|COAD - Colon adenocarcinoma(227;1.36e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|BRCA - Breast invasive adenocarcinoma(365;0.00109)|STAD - Stomach adenocarcinoma(132;0.00313)|READ - Rectum adenocarcinoma(331;0.0642)|Lung(427;0.246)	3	717	-	Ovarian(185;0.0634)	all_cancers(23;8.07e-33)|all_epithelial(116;4.45e-18)|all_lung(118;1.09e-06)|all_neural(13;3.68e-06)|Lung NSC(185;1.52e-05)|all_hematologic(16;2.39e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00475)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)	153					Q5TGR5|Q6AHW8|Q86SP8	Missense_Mutation	SNP	ENST00000377893.2	37	c.458G>T	CCDS64.1	.	.	.	.	.	.	.	.	.	.	C	9.737	1.163728	0.21538	.	.	ENSG00000158292	ENST00000377893	T	0.72835	-0.69	5.03	2.0	0.26442	GPCR, rhodopsin-like superfamily (1);	0.473118	0.23624	N	0.046201	T	0.47414	0.1444	N	0.08118	0	0.22280	N	0.999235	B	0.19331	0.035	B	0.21151	0.033	T	0.41360	-0.9513	10	0.48119	T	0.1	-22.8302	8.7564	0.34648	0.0:0.3852:0.5181:0.0966	.	153	Q6NV75	GP153_HUMAN	I	153	ENSP00000367125:S153I	ENSP00000367125:S153I	S	-	2	0	GPR153	6236693	0.061000	0.20836	0.020000	0.16555	0.656000	0.38851	0.829000	0.27449	0.530000	0.28619	-0.232000	0.12228	AGC		0.632	GPR153-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000003717.2			14	29	1	0	0.000219431	1	0.000224427	14	29					A	6314106	C	A	6314106	3	1	435	1	0	0	0	0	1	0	0	0	6659	797	28	5	1387	5	GPR153	1	6314106	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	111493	6314106	242936515	37	20962											
ESPN	83715	broad.mit.edu	37	chr1	6488405	6488405	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accgcggccacagacatgggCgccctgcctatccactacgc	8	5	10	18	4	0	1	0	0	0	1	1	1	1	1	5	2	2	0	5	2	2	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:6488405C>T	ENST00000377828.1	+	2	582	c.414C>T	c.(412-414)ggC>ggT	p.G138G	MIR4252_ENST00000585139.1_RNA	NM_031475.2	NP_113663.2	B1AK53	ESPN_HUMAN	espin	138					locomotory behavior (GO:0007626)|negative regulation of cytoskeleton organization (GO:0051494)|parallel actin filament bundle assembly (GO:0030046)|positive regulation of filopodium assembly (GO:0051491)|sensory perception of sound (GO:0007605)	brush border (GO:0005903)|cytoplasm (GO:0005737)|filamentous actin (GO:0031941)|microvillus (GO:0005902)|stereocilium bundle tip (GO:0032426)	actin filament binding (GO:0051015)|SH3 domain binding (GO:0017124)			NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(1)	17	Ovarian(185;0.0386)|all_lung(157;0.154)	all_cancers(23;3.6e-37)|all_epithelial(116;2.56e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|all_hematologic(16;6.92e-06)|Colorectal(325;4.47e-05)|Acute lymphoblastic leukemia(12;4.92e-05)|Breast(487;7.61e-05)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0392)		Epithelial(90;1.82e-35)|GBM - Glioblastoma multiforme(13;3e-28)|Kidney(185;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(229;5.63e-08)|Colorectal(212;7e-08)|COAD - Colon adenocarcinoma(227;1.41e-05)|BRCA - Breast invasive adenocarcinoma(365;0.000109)|STAD - Stomach adenocarcinoma(132;0.00167)|Lung(427;0.0108)|LUSC - Lung squamous cell carcinoma(448;0.0253)|READ - Rectum adenocarcinoma(331;0.0419)		CAGACATGGGCGCCCTGCCTA	0.637																																						ENST00000377828.1																			0				NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(1)	17						c.(412-414)ggC>ggT		espin							41	47	45					1																	6488405		2203	4300	6503	SO:0001819	synonymous_variant	83715				sensory perception of sound	brush border|cytoplasm|filamentous actin|stereocilium	actin filament binding|SH3 domain binding	g.chr1:6488405C>T	AF134401	CCDS70.1	1p36.31	2013-01-10			ENSG00000187017	ENSG00000187017		"Ankyrin repeat domain containing"	13281	protein-coding gene	gene with protein product		606351	"deafness, autosomal recessive 36"	DFNB36		10975527, 15286153	Standard	NM_031475		Approved		uc001amy.3	B1AK53	OTTHUMG00000000753	ENST00000377828.1:c.414C>T	1.37:g.6488405C>T							p.G138G	NM_031475.2	NP_113663.2	B1AK53	ESPN_HUMAN		Epithelial(90;1.82e-35)|GBM - Glioblastoma multiforme(13;3e-28)|Kidney(185;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(229;5.63e-08)|Colorectal(212;7e-08)|COAD - Colon adenocarcinoma(227;1.41e-05)|BRCA - Breast invasive adenocarcinoma(365;0.000109)|STAD - Stomach adenocarcinoma(132;0.00167)|Lung(427;0.0108)|LUSC - Lung squamous cell carcinoma(448;0.0253)|READ - Rectum adenocarcinoma(331;0.0419)	2	582	+	Ovarian(185;0.0386)|all_lung(157;0.154)	all_cancers(23;3.6e-37)|all_epithelial(116;2.56e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|all_hematologic(16;6.92e-06)|Colorectal(325;4.47e-05)|Acute lymphoblastic leukemia(12;4.92e-05)|Breast(487;7.61e-05)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0392)	138					Q6XYB2|Q9H0A2|Q9Y329	Silent	SNP	ENST00000377828.1	37	c.414C>T	CCDS70.1																																																																																				0.637	ESPN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001887.3	NM_031475		16	27	0	0	0	1	0	16	27					T	6488405	C	T	6488405	2	4	435	1	0	0	0	0	0	0	0	1	5254	755	27	1		1	ESPN	1	6488405	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	174299	6488405	242762216	38	20963											
NOL9	79707	broad.mit.edu	37	chr1	6589156	6589156	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaaagaccaacccagctggCgtttacagcatatagtatat	14	9	8	10	1	0	1	0	0	0	1	0	1	0	1	2	1	4	5	2	1	7	6	rs150821604	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:6589156C>T	ENST00000377705.5	-	10	1755	c.1723G>A	c.(1723-1725)Gcc>Acc	p.A575T		NM_024654.4	NP_078930	Q5SY16	NOL9_HUMAN	nucleolar protein 9	575					maturation of 5.8S rRNA (GO:0000460)	membrane (GO:0016020)|nucleolus (GO:0005730)	ATP binding (GO:0005524)|polynucleotide 5'-hydroxyl-kinase activity (GO:0051731)|RNA binding (GO:0003723)			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|skin(2)|urinary_tract(1)	19	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;2.46e-35)|all_epithelial(116;1.41e-22)|all_lung(118;7.59e-07)|Lung NSC(185;4.28e-06)|Colorectal(325;4.52e-05)|Breast(487;0.000353)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443)		Colorectal(212;1.47e-07)|COAD - Colon adenocarcinoma(227;1.47e-05)|Kidney(185;5.27e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000971)|BRCA - Breast invasive adenocarcinoma(365;0.00113)|STAD - Stomach adenocarcinoma(132;0.0017)|READ - Rectum adenocarcinoma(331;0.0649)		ACCCAGCTGGCGTTTACAGCA	0.507													C|||	2	0.000399361	0	0	5008	,	,		18926	0		0	False		,,,				2504	0.002					ENST00000377705.5																			0				central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|skin(2)|urinary_tract(1)	19						c.(1723-1725)Gcc>Acc		nucleolar protein 9		C	THR/ALA	1,4405	2.1+/-5.4	0,1,2202	109	94	99		1723	4.9	1	1	dbSNP_134	99	0,8600		0,0,4300	no	missense	NOL9	NM_024654.4	58	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	575/703	6589156	1,13005	2203	4300	6503	SO:0001583	missense	79707				maturation of 5.8S rRNA	nucleolus	ATP binding|polynucleotide 5'-hydroxyl-kinase activity|RNA binding	g.chr1:6589156C>T	AK091284	CCDS80.1	1p36.31	2012-05-02			ENSG00000162408	ENSG00000162408			26265	protein-coding gene	gene with protein product	"polynucleotide 5'-kinase"					21063389	Standard	NM_024654		Approved	FLJ23323, NET6, Grc3	uc001ans.3	Q5SY16	OTTHUMG00000000904	ENST00000377705.5:c.1723G>A	1.37:g.6589156C>T	ENSP00000366934:p.Ala575Thr						p.A575T	NM_024654.4	NP_078930.3	Q5SY16	NOL9_HUMAN		Colorectal(212;1.47e-07)|COAD - Colon adenocarcinoma(227;1.47e-05)|Kidney(185;5.27e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000971)|BRCA - Breast invasive adenocarcinoma(365;0.00113)|STAD - Stomach adenocarcinoma(132;0.0017)|READ - Rectum adenocarcinoma(331;0.0649)	10	1755	-	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;2.46e-35)|all_epithelial(116;1.41e-22)|all_lung(118;7.59e-07)|Lung NSC(185;4.28e-06)|Colorectal(325;4.52e-05)|Breast(487;0.000353)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443)	575					Q2NL84|Q4VBY3|Q6P472|Q7L4D6|Q96EE0|Q9H5L4	Missense_Mutation	SNP	ENST00000377705.5	37	c.1723G>A	CCDS80.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.952221	0.73787	2.27E-4	0.0	ENSG00000162408	ENST00000377705	T	0.44083	0.93	5.77	4.86	0.63082	Pre-mRNA cleavage complex II Clp1 (1);	0.135645	0.50627	D	0.000111	T	0.64713	0.2623	M	0.83483	2.645	0.48632	D	0.999688	D	0.89917	1.0	D	0.71414	0.973	T	0.67377	-0.5686	10	0.42905	T	0.14	-30.1186	12.7135	0.57102	0.0:0.9205:0.0:0.0794	.	575	Q5SY16	NOL9_HUMAN	T	575	ENSP00000366934:A575T	ENSP00000366934:A575T	A	-	1	0	NOL9	6511743	1.000000	0.71417	0.985000	0.45067	0.429000	0.31625	6.419000	0.73345	1.444000	0.47605	0.561000	0.74099	GCC		0.507	NOL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000002625.1	NM_024654		13	29	0	0	0	1	0	13	29					T	6589156	C	T	6589156	3	4	435	1	0	0	0	0	1	0	0	0	10528	768	27	1	397	1	NOL9	1	6589156	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	100751	6589156	242661465	39	20964											
ZBTB48	3104	broad.mit.edu	37	chr1	6640742	6640742	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agcagcgggagaagggccagTactgcgacgccactctggac	10	4	15	12	3	1	1	0	0	1	1	1	4	1	2	2	3	4	2	2	3	2	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:6640742T>C	ENST00000377674.4	+	2	231	c.73T>C	c.(73-75)Tac>Cac	p.Y25H		NM_001278647.1|NM_001278648.1|NM_005341.2	NP_001265576.1|NP_001265577.1|NP_005332.1	P10074	ZBT48_HUMAN	zinc finger and BTB domain containing 48	25					transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|kidney(1)|large_intestine(1)|liver(2)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	11	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;7.39e-28)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156)		Colorectal(212;1.35e-07)|COAD - Colon adenocarcinoma(227;1.36e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|BRCA - Breast invasive adenocarcinoma(304;0.00109)|STAD - Stomach adenocarcinoma(132;0.017)|READ - Rectum adenocarcinoma(331;0.0642)		GAAGGGCCAGTACTGCGACGC	0.607																																					Esophageal Squamous(125;1449 1657 4031 29866 49542)	ENST00000377674.4																			0				central_nervous_system(1)|kidney(1)|large_intestine(1)|liver(2)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	11						c.(73-75)Tac>Cac		zinc finger and BTB domain containing 48							77	74	75					1																	6640742		2203	4300	6503	SO:0001583	missense	3104					cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr1:6640742T>C	BC013573	CCDS84.1	1p36.3	2013-01-08	2006-09-20	2006-09-20	ENSG00000204859	ENSG00000204859		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	4930	protein-coding gene	gene with protein product		165270	"GLI-Kruppel family member HKR3"	HKR3		2850480, 8661141	Standard	NM_001278647		Approved	ZNF855	uc001anx.3	P10074	OTTHUMG00000001438	ENST00000377674.4:c.73T>C	1.37:g.6640742T>C	ENSP00000366902:p.Tyr25His						p.Y25H	NM_001278647.1|NM_001278648.1|NM_005341.2	NP_001265576.1|NP_001265577.1|NP_005332.1	P10074	ZBT48_HUMAN		Colorectal(212;1.35e-07)|COAD - Colon adenocarcinoma(227;1.36e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|BRCA - Breast invasive adenocarcinoma(304;0.00109)|STAD - Stomach adenocarcinoma(132;0.017)|READ - Rectum adenocarcinoma(331;0.0642)	2	231	+	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;7.39e-28)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156)	25					Q5SY19	Missense_Mutation	SNP	ENST00000377674.4	37	c.73T>C	CCDS84.1	.	.	.	.	.	.	.	.	.	.	T	26.6	4.751148	0.89753	.	.	ENSG00000204859	ENST00000319084;ENST00000435905;ENST00000377674	T;T;T	0.69040	-0.37;-0.37;-0.37	5.59	5.59	0.84812	BTB/POZ (1);BTB/POZ fold (2);	0.116985	0.64402	D	0.000013	T	0.75627	0.3875	L	0.49126	1.545	0.43377	D	0.995472	D	0.53885	0.963	P	0.61722	0.893	T	0.78170	-0.2308	10	0.87932	D	0	-34.0864	14.5816	0.68295	0.0:0.0:0.0:1.0	.	25	P10074	ZBT48_HUMAN	H	25	ENSP00000313416:Y25H;ENSP00000416054:Y25H;ENSP00000366902:Y25H	ENSP00000313416:Y25H	Y	+	1	0	ZBTB48	6563329	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	2.961000	0.49168	2.115000	0.64714	0.460000	0.39030	TAC		0.607	ZBTB48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004193.1	NM_005341		12	17	0	0	0	1	0	12	17					C	6640742	T	C	6640742	3	2	435	1	0	0	0	0	1	0	0	0	17546	1638	57	4	75	4	ZBTB48	1	6640742	Missense_Mutation	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	51586	6640742	242609879	40	20965											
ERRFI1	54206	broad.mit.edu	37	chr1	8074217	8074217	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tggaagaggcctagaaccccGttcacaaagaggggcacagg	13	4	14	10	1	1	3	1	0	0	3	1	4	1	4	3	5	1	2	3	5	4	2	rs372669618		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:8074217G>A	ENST00000377482.5	-	4	665	c.442C>T	c.(442-444)Cgg>Tgg	p.R148W	ERRFI1_ENST00000467067.1_3'UTR|ERRFI1_ENST00000469499.1_3'UTR|ERRFI1_ENST00000474874.1_Intron	NM_018948.3	NP_061821.1	Q9UJM3	ERRFI_HUMAN	ERBB receptor feedback inhibitor 1	148					lung alveolus development (GO:0048286)|lung epithelium development (GO:0060428)|lung vasculature development (GO:0060426)|negative regulation of epidermal growth factor-activated receptor activity (GO:0007175)|negative regulation of protein autophosphorylation (GO:0031953)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of keratinocyte differentiation (GO:0045616)|response to stress (GO:0006950)|skin morphogenesis (GO:0043589)	cytoplasm (GO:0005737)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)|Rho GTPase activator activity (GO:0005100)			breast(1)|endometrium(2)|large_intestine(3)|liver(3)|lung(3)|ovary(1)|prostate(1)|skin(2)	16	Ovarian(185;0.06)|all_lung(157;0.151)	all_epithelial(116;1.76e-16)|all_lung(118;3.66e-05)|Lung NSC(185;0.000163)|Renal(390;0.000469)|Colorectal(325;0.0033)|Breast(348;0.0044)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;2.33e-70)|GBM - Glioblastoma multiforme(8;8.05e-37)|Colorectal(212;6.23e-08)|COAD - Colon adenocarcinoma(227;6.9e-06)|Kidney(185;4.89e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.000985)|READ - Rectum adenocarcinoma(331;0.0642)		CTAGAACCCCGTTCACAAAGA	0.498																																						ENST00000377482.5																			0				breast(1)|endometrium(2)|large_intestine(3)|liver(3)|lung(3)|ovary(1)|prostate(1)|skin(2)	16						c.(442-444)Cgg>Tgg		ERBB receptor feedback inhibitor 1		G	TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	90	96	94		442	2.1	0	1		94	0,8600		0,0,4300	no	missense	ERRFI1	NM_018948.3	101	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	148/463	8074217	1,13005	2203	4300	6503	SO:0001583	missense	54206				lung alveolus development|lung epithelium development|lung vasculature development|negative regulation of epidermal growth factor receptor activity|negative regulation of protein autophosphorylation|regulation of keratinocyte differentiation|response to stress|skin morphogenesis	cytoplasm|extrinsic to internal side of plasma membrane|nucleus	protein kinase binding|Rho GTPase activator activity	g.chr1:8074217G>A	BC025337	CCDS94.1	1p36.23	2008-02-05			ENSG00000116285	ENSG00000116285			18185	protein-coding gene	gene with protein product		608069				10749885, 2780291, 12226756, 11003669	Standard	NM_018948		Approved	MIG-6, GENE-33, RALT	uc001aoz.3	Q9UJM3	OTTHUMG00000001221	ENST00000377482.5:c.442C>T	1.37:g.8074217G>A	ENSP00000366702:p.Arg148Trp					ERRFI1_ENST00000474874.1_Intron|ERRFI1_ENST00000469499.1_3'UTR|ERRFI1_ENST00000467067.1_3'UTR	p.R148W	NM_018948.3	NP_061821.1	Q9UJM3	ERRFI_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;2.33e-70)|GBM - Glioblastoma multiforme(8;8.05e-37)|Colorectal(212;6.23e-08)|COAD - Colon adenocarcinoma(227;6.9e-06)|Kidney(185;4.89e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.000985)|READ - Rectum adenocarcinoma(331;0.0642)	4	665	-	Ovarian(185;0.06)|all_lung(157;0.151)	all_epithelial(116;1.76e-16)|all_lung(118;3.66e-05)|Lung NSC(185;0.000163)|Renal(390;0.000469)|Colorectal(325;0.0033)|Breast(348;0.0044)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11)	148					B2RDX9|Q9NTG9|Q9UD05	Missense_Mutation	SNP	ENST00000377482.5	37	c.442C>T	CCDS94.1	.	.	.	.	.	.	.	.	.	.	G	14.78	2.637499	0.47049	2.27E-4	0.0	ENSG00000116285	ENST00000377482	T	0.75704	-0.96	5.18	2.07	0.26955	.	0.064547	0.64402	D	0.000010	D	0.82737	0.5102	M	0.76002	2.32	0.24936	N	0.991881	D	0.76494	0.999	D	0.66979	0.948	T	0.74822	-0.3534	10	0.42905	T	0.14	-2.8137	12.1129	0.53850	0.0:0.1141:0.648:0.2379	.	148	Q9UJM3	ERRFI_HUMAN	W	148	ENSP00000366702:R148W	ENSP00000366702:R148W	R	-	1	2	ERRFI1	7996804	0.997000	0.39634	0.001000	0.08648	0.068000	0.16541	2.941000	0.49011	0.196000	0.20367	-0.808000	0.03180	CGG		0.498	ERRFI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000003617.1	NM_018948		23	45	0	0	0	1	0	23	45					A	8074217	G	A	8074217	3	1	435	1	0	0	0	0	1	0	0	0	5244	1144	40	1	950	1	ERRFI1	1	8074217	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	1433475	8074217	241176404	41	20966											
SLC45A1	50651	broad.mit.edu	37	chr1	8386059	8386059	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atgatggacgtgtgcagcccCgcagaccaggaccgaggcct	9	5	14	13	3	0	2	0	1	0	1	0	5	0	4	5	3	2	2	5	3	0	0	rs370969906		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:8386059C>T	ENST00000471889.1	+	4	1057	c.672C>T	c.(670-672)ccC>ccT	p.P224P	SLC45A1_ENST00000289877.8_Silent_p.P224P|Y_RNA_ENST00000516445.1_RNA|SLC45A1_ENST00000377479.2_Silent_p.P258P			Q9Y2W3	S45A1_HUMAN	solute carrier family 45, member 1	224					carbohydrate transport (GO:0008643)	integral component of membrane (GO:0016021)	symporter activity (GO:0015293)			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(2)	33	Ovarian(185;0.0661)|all_lung(157;0.127)	all_epithelial(116;1.22e-15)|all_lung(118;0.000147)|Lung NSC(185;0.000251)|Renal(390;0.000469)|Colorectal(325;0.00578)|Breast(348;0.00686)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;3.95e-66)|GBM - Glioblastoma multiforme(8;5.93e-33)|Colorectal(212;2.86e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|Kidney(185;5.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|KIRC - Kidney renal clear cell carcinoma(229;0.000979)|STAD - Stomach adenocarcinoma(132;0.00199)|READ - Rectum adenocarcinoma(331;0.0649)		TGTGCAGCCCCGCAGACCAGG	0.662																																						ENST00000471889.1																			0				central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(2)	33						c.(670-672)ccC>ccT		solute carrier family 45, member 1		C		1,4405	2.1+/-5.4	0,1,2202	73	68	70		672	-10.4	0	1		70	0,8600		0,0,4300	no	coding-synonymous	SLC45A1	NM_001080397.1		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		224/749	8386059	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	50651				carbohydrate transport	integral to membrane	symporter activity	g.chr1:8386059C>T	AF118274	CCDS30577.1	1p36.23	2014-01-28	2005-10-04	2005-10-04	ENSG00000162426	ENSG00000162426		"Solute carriers"	17939	protein-coding gene	gene with protein product	"H+/sugar symporter"	605763	"deleted in neuroblastoma 5"	DNB5		10729226	Standard	XM_005263467		Approved		uc001apb.3	Q9Y2W3	OTTHUMG00000000503	ENST00000471889.1:c.672C>T	1.37:g.8386059C>T						SLC45A1_ENST00000289877.8_Silent_p.P224P|SLC45A1_ENST00000377479.2_Silent_p.P258P	p.P224P			Q9Y2W3	S45A1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;3.95e-66)|GBM - Glioblastoma multiforme(8;5.93e-33)|Colorectal(212;2.86e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|Kidney(185;5.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|KIRC - Kidney renal clear cell carcinoma(229;0.000979)|STAD - Stomach adenocarcinoma(132;0.00199)|READ - Rectum adenocarcinoma(331;0.0649)	4	1057	+	Ovarian(185;0.0661)|all_lung(157;0.127)	all_epithelial(116;1.22e-15)|all_lung(118;0.000147)|Lung NSC(185;0.000251)|Renal(390;0.000469)|Colorectal(325;0.00578)|Breast(348;0.00686)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11)	224					Q5VY46|Q5VY49	Silent	SNP	ENST00000471889.1	37	c.672C>T	CCDS30577.1																																																																																				0.662	SLC45A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001245.5			13	34	0	0	0	1	0	13	34					T	8386059	C	T	8386059	2	4	435	1	0	0	0	0	0	0	0	1	14640	639	23	2		2	SLC45A1	1	8386059	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	311842	8386059	240864562	42	20967											
SLC45A1	50651	broad.mit.edu	37	chr1	8390709	8390709	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	actgcttcacgggcggccacGacagctacctggccatccct	7	7	10	17	3	1	0	1	0	0	0	2	1	2	0	4	3	3	2	4	3	1	2	rs200084739		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:8390709G>A	ENST00000471889.1	+	5	1541	c.1156G>A	c.(1156-1158)Gac>Aac	p.D386N	SLC45A1_ENST00000289877.8_Missense_Mutation_p.D386N|Y_RNA_ENST00000516445.1_RNA|SLC45A1_ENST00000377479.2_Missense_Mutation_p.D420N|SLC45A1_ENST00000481265.1_3'UTR			Q9Y2W3	S45A1_HUMAN	solute carrier family 45, member 1	386					carbohydrate transport (GO:0008643)	integral component of membrane (GO:0016021)	symporter activity (GO:0015293)			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(2)	33	Ovarian(185;0.0661)|all_lung(157;0.127)	all_epithelial(116;1.22e-15)|all_lung(118;0.000147)|Lung NSC(185;0.000251)|Renal(390;0.000469)|Colorectal(325;0.00578)|Breast(348;0.00686)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;3.95e-66)|GBM - Glioblastoma multiforme(8;5.93e-33)|Colorectal(212;2.86e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|Kidney(185;5.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|KIRC - Kidney renal clear cell carcinoma(229;0.000979)|STAD - Stomach adenocarcinoma(132;0.00199)|READ - Rectum adenocarcinoma(331;0.0649)		GGGCGGCCACGACAGCTACCT	0.662																																						ENST00000471889.1																			0				central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(2)	33						c.(1156-1158)Gac>Aac		solute carrier family 45, member 1							38	39	39					1																	8390709		2203	4300	6503	SO:0001583	missense	50651				carbohydrate transport	integral to membrane	symporter activity	g.chr1:8390709G>A	AF118274	CCDS30577.1	1p36.23	2014-01-28	2005-10-04	2005-10-04	ENSG00000162426	ENSG00000162426		"Solute carriers"	17939	protein-coding gene	gene with protein product	"H+/sugar symporter"	605763	"deleted in neuroblastoma 5"	DNB5		10729226	Standard	XM_005263467		Approved		uc001apb.3	Q9Y2W3	OTTHUMG00000000503	ENST00000471889.1:c.1156G>A	1.37:g.8390709G>A	ENSP00000418096:p.Asp386Asn					SLC45A1_ENST00000481265.1_3'UTR|SLC45A1_ENST00000377479.2_Missense_Mutation_p.D420N|SLC45A1_ENST00000289877.8_Missense_Mutation_p.D386N	p.D386N			Q9Y2W3	S45A1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;3.95e-66)|GBM - Glioblastoma multiforme(8;5.93e-33)|Colorectal(212;2.86e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|Kidney(185;5.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|KIRC - Kidney renal clear cell carcinoma(229;0.000979)|STAD - Stomach adenocarcinoma(132;0.00199)|READ - Rectum adenocarcinoma(331;0.0649)	5	1541	+	Ovarian(185;0.0661)|all_lung(157;0.127)	all_epithelial(116;1.22e-15)|all_lung(118;0.000147)|Lung NSC(185;0.000251)|Renal(390;0.000469)|Colorectal(325;0.00578)|Breast(348;0.00686)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11)	386					Q5VY46|Q5VY49	Missense_Mutation	SNP	ENST00000471889.1	37	c.1156G>A	CCDS30577.1	.	.	.	.	.	.	.	.	.	.	G	8.562	0.878015	0.17395	.	.	ENSG00000162426	ENST00000471889;ENST00000377479;ENST00000289877	T;T;T	0.19250	2.18;2.16;2.18	4.56	3.65	0.41850	.	0.882198	0.10020	N	0.726117	T	0.17534	0.0421	L	0.47716	1.5	0.09310	N	1	B	0.22211	0.066	B	0.09377	0.004	T	0.31861	-0.9928	10	0.16896	T	0.51	-29.0277	8.2071	0.31463	0.2076:0.0:0.7924:0.0	.	386	Q9Y2W3	S45A1_HUMAN	N	386;420;386	ENSP00000418096:D386N;ENSP00000366699:D420N;ENSP00000289877:D386N	ENSP00000289877:D386N	D	+	1	0	SLC45A1	8313296	0.942000	0.31987	0.040000	0.18447	0.420000	0.31355	3.918000	0.56432	0.891000	0.36235	0.561000	0.74099	GAC		0.662	SLC45A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001245.5			9	15	0	0	0	1	0	9	15					A	8390709	G	A	8390709	3	1	435	1	0	0	0	0	1	0	0	0	14640	1058	37	2	1170	2	SLC45A1	1	8390709	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	4650	8390709	240859912	43	20968											
RERE	473	broad.mit.edu	37	chr1	8424212	8424212	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ataaacggtggcgggtccacGggcttctcaatgggcgggag	8	7	17	9	4	1	0	1	0	1	0	3	1	2	1	1	6	1	1	1	6	3	2	rs146907591		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:8424212G>A	ENST00000337907.3	-	16	2278	c.1644C>T	c.(1642-1644)ccC>ccT	p.P548P	RERE_ENST00000377464.1_Silent_p.P280P|RERE_ENST00000400908.2_Silent_p.P548P|RERE_ENST00000400907.2_Intron|RERE_ENST00000460659.1_5'Flank|RERE_ENST00000476556.1_5'UTR	NM_012102.3	NP_036234.3	Q9P2R6	RERE_HUMAN	arginine-glutamic acid dipeptide (RE) repeats	548					chromatin remodeling (GO:0006338)|multicellular organismal development (GO:0007275)|NLS-bearing protein import into nucleus (GO:0006607)|transcription, DNA-templated (GO:0006351)	histone deacetylase complex (GO:0000118)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|poly-glutamine tract binding (GO:0008267)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)		GCGGGTCCACGGGCTTCTCAA	0.582																																						ENST00000337907.3																			0				central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						c.(1642-1644)ccC>ccT		arginine-glutamic acid dipeptide (RE) repeats		G	,,	1,4405	2.1+/-5.4	0,1,2202	85	84	84		1644,,1644	-10.4	0.4	1	dbSNP_134	84	0,8600		0,0,4300	no	coding-synonymous,utr-5,coding-synonymous	RERE	NM_001042681.1,NM_001042682.1,NM_012102.3	,,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,,	548/1567,,548/1567	8424212	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	473				multicellular organismal development|NLS-bearing substrate import into nucleus	mitochondrion	poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr1:8424212G>A	AF016005	CCDS95.1, CCDS41243.1	1p36.23	2013-01-25			ENSG00000142599	ENSG00000142599		"GATA zinc finger domain containing"	9965	protein-coding gene	gene with protein product		605226		ATN1L		10814707, 10729226	Standard	NM_012102		Approved	KIAA0458, ARP, ARG, DNB1	uc001apf.3	Q9P2R6	OTTHUMG00000001765	ENST00000337907.3:c.1644C>T	1.37:g.8424212G>A						RERE_ENST00000400908.2_Silent_p.P548P|RERE_ENST00000476556.1_5'UTR|RERE_ENST00000400907.2_Intron|RERE_ENST00000377464.1_Silent_p.P280P	p.P548P	NM_012102.3	NP_036234.3	Q9P2R6	RERE_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)	16	2278	-	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)	548					O43393|O75046|O75359|Q5VXL9|Q6P6B9|Q9Y2W4	Silent	SNP	ENST00000337907.3	37	c.1644C>T	CCDS95.1																																																																																				0.582	RERE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004916.1			26	25	0	0	0	1	0	26	25					A	8424212	G	A	8424212	2	1	435	1	0	0	0	0	0	0	0	1	13231	1103	39	2		2	RERE	1	8424212	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	33503	8424212	240826409	44	20969											
ENO1	2023	broad.mit.edu	37	chr1	8930530	8930530	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccttgctaaccagggcaggcGcaatagttttattgatgtgc	9	12	11	9	1	0	1	0	1	0	0	0	1	0	1	2	2	3	4	2	2	4	6	rs369657785		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:8930530G>A	ENST00000234590.4	-	4	340	c.221C>T	c.(220-222)gCg>gTg	p.A74V		NM_001428.3	NP_001419.1	P06733	ENOA_HUMAN	enolase 1, (alpha)	74					carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|negative regulation of cell growth (GO:0030308)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|response to virus (GO:0009615)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|phosphopyruvate hydratase complex (GO:0000015)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|magnesium ion binding (GO:0000287)|phosphopyruvate hydratase activity (GO:0004634)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	10	Ovarian(185;0.0661)|all_lung(157;0.127)	all_epithelial(116;2.54e-20)|all_lung(118;2.99e-06)|Lung NSC(185;6.25e-06)|Renal(390;0.000147)|Breast(348;0.00086)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;2.42e-07)|COAD - Colon adenocarcinoma(227;2.78e-05)|Kidney(185;0.000249)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.00177)|BRCA - Breast invasive adenocarcinoma(304;0.00185)|READ - Rectum adenocarcinoma(331;0.0642)		CAGGGCAGGCGCAATAGTTTT	0.458																																					Esophageal Squamous(21;302 608 19946 22210 33560)	ENST00000234590.4																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	10						c.(220-222)gCg>gTg		enolase 1, (alpha)							94	82	86					1																	8930530		2203	4300	6503	SO:0001583	missense	2023				gluconeogenesis|glycolysis|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|response to virus	phosphopyruvate hydratase complex|plasma membrane|sarcomere	DNA binding|magnesium ion binding|phosphopyruvate hydratase activity|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr1:8930530G>A	BC022545	CCDS97.1	1p36.2	2010-03-11			ENSG00000074800	ENSG00000074800	4.2.1.11		3350	protein-coding gene	gene with protein product		172430		ENO1L1, MPB1		9653645, 9691177	Standard	NM_001428		Approved	PPH, MBP-1	uc001apj.2	P06733	OTTHUMG00000001773	ENST00000234590.4:c.221C>T	1.37:g.8930530G>A	ENSP00000234590:p.Ala74Val						p.A74V	NM_001428.3	NP_001419.1	P06733	ENOA_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;2.42e-07)|COAD - Colon adenocarcinoma(227;2.78e-05)|Kidney(185;0.000249)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.00177)|BRCA - Breast invasive adenocarcinoma(304;0.00185)|READ - Rectum adenocarcinoma(331;0.0642)	4	340	-	Ovarian(185;0.0661)|all_lung(157;0.127)	all_epithelial(116;2.54e-20)|all_lung(118;2.99e-06)|Lung NSC(185;6.25e-06)|Renal(390;0.000147)|Breast(348;0.00086)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)	74					B2RD59|P22712|Q16704|Q4TUS4|Q53FT9|Q53HR3|Q658M5|Q6GMP2|Q71V37|Q7Z3V6|Q8WU71|Q96GV1|Q9BT62|Q9UCH6|Q9UM55	Missense_Mutation	SNP	ENST00000234590.4	37	c.221C>T	CCDS97.1	.	.	.	.	.	.	.	.	.	.	G	18.69	3.677741	0.68042	.	.	ENSG00000074800	ENST00000234590	T	0.33654	1.4	5.92	5.01	0.66863	Enolase, N-terminal (1);	0.155281	0.56097	D	0.000022	T	0.49338	0.1551	M	0.86343	2.81	0.51233	D	0.99991	B;B	0.32731	0.382;0.038	B;B	0.35770	0.21;0.018	T	0.55471	-0.8136	10	0.51188	T	0.08	-7.4396	16.2936	0.82761	0.0:0.1323:0.8677:0.0	.	41;74	A4UCS8;P06733	.;ENOA_HUMAN	V	74	ENSP00000234590:A74V	ENSP00000234590:A74V	A	-	2	0	ENO1	8853117	1.000000	0.71417	0.993000	0.49108	0.974000	0.67602	6.761000	0.74945	1.509000	0.48786	0.650000	0.86243	GCG		0.458	ENO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004945.1	NM_001428		11	31	0	0	0	1	0	11	31					A	8930530	G	A	8930530	3	1	435	1	0	0	0	0	1	0	0	0	5121	1087	38	1	1119	1	ENO1	1	8930530	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	506318	8930530	240320091	45	20970											
SLC2A7	155184	broad.mit.edu	37	chr1	9067389	9067389	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggcccaatggaatgtcccGcgatgtaggcaaagacacag	12	6	13	10	2	0	1	0	0	0	1	1	3	1	2	2	3	0	2	2	3	4	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:9067389G>A	ENST00000400906.1	-	10	1171	c.1172C>T	c.(1171-1173)gCg>gTg	p.A391V		NM_207420.2	NP_997303.2	Q6PXP3	GTR7_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 7	391					carbohydrate transport (GO:0008643)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	substrate-specific transmembrane transporter activity (GO:0022891)			NS(1)|breast(1)|endometrium(4)|large_intestine(10)|lung(4)|prostate(2)|skin(2)	24	Ovarian(185;0.112)|all_lung(157;0.185)	all_epithelial(116;1.34e-15)|all_lung(118;9.46e-05)|Lung NSC(185;0.000172)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.00715)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.04e-07)|COAD - Colon adenocarcinoma(227;7.66e-05)|Kidney(185;0.000249)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.00177)|BRCA - Breast invasive adenocarcinoma(304;0.00185)|READ - Rectum adenocarcinoma(331;0.0642)		GGAATGTCCCGCGATGTAGGC	0.627																																						ENST00000400906.1																			0				NS(1)|breast(1)|endometrium(4)|large_intestine(10)|lung(4)|prostate(2)|skin(2)	24						c.(1171-1173)gCg>gTg		solute carrier family 2 (facilitated glucose transporter), member 7							154	118	130					1																	9067389		2203	4300	6503	SO:0001583	missense	155184					integral to membrane|plasma membrane	sugar transmembrane transporter activity	g.chr1:9067389G>A	AL356306	CCDS98.2	1p36.2	2013-05-22			ENSG00000197241	ENSG00000197241		"Solute carriers"	13445	protein-coding gene	gene with protein product	"intestinal facilitative glucose transporter 7"	610371				11780753	Standard	NM_207420		Approved	GLUT7	uc009vmo.1	Q6PXP3	OTTHUMG00000057499	ENST00000400906.1:c.1172C>T	1.37:g.9067389G>A	ENSP00000383698:p.Ala391Val						p.A391V	NM_207420.2	NP_997303.2	Q6PXP3	GTR7_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.04e-07)|COAD - Colon adenocarcinoma(227;7.66e-05)|Kidney(185;0.000249)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.00177)|BRCA - Breast invasive adenocarcinoma(304;0.00185)|READ - Rectum adenocarcinoma(331;0.0642)	10	1171	-	Ovarian(185;0.112)|all_lung(157;0.185)	all_epithelial(116;1.34e-15)|all_lung(118;9.46e-05)|Lung NSC(185;0.000172)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.00715)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)	391					A2A333	Missense_Mutation	SNP	ENST00000400906.1	37	c.1172C>T	CCDS98.2	.	.	.	.	.	.	.	.	.	.	G	0.556	-0.847276	0.02651	.	.	ENSG00000197241	ENST00000400906	T	0.59224	0.28	3.8	0.84	0.18912	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.554792	0.15604	N	0.253742	T	0.27559	0.0677	N	0.05441	-0.05	0.09310	N	1	B	0.11235	0.004	B	0.15870	0.014	T	0.27262	-1.0079	10	0.02654	T	1	.	6.7763	0.23621	0.5849:0.0:0.4151:0.0	.	391	Q6PXP3	GTR7_HUMAN	V	391	ENSP00000383698:A391V	ENSP00000383698:A391V	A	-	2	0	SLC2A7	8989976	0.403000	0.25319	0.751000	0.31187	0.782000	0.44232	2.269000	0.43346	-0.009000	0.14296	-0.355000	0.07637	GCG		0.627	SLC2A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127768.3	NM_207420		11	17	0	0	0	1	0	11	17					A	9067389	G	A	9067389	3	1	435	1	0	0	0	0	1	0	0	0	14550	1087	38	1	378	1	SLC2A7	1	9067389	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	136859	9067389	240183232	46	20971											
SLC2A5	6518	broad.mit.edu	37	chr1	9118306	9118306	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagggcaagcacaagcgtcaGcctctgcagagatcacagct	12	5	11	13	1	3	1	2	0	1	1	3	2	3	1	1	1	5	4	1	1	2	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:9118306G>T	ENST00000377424.4	-	2	216	c.37C>A	c.(37-39)Ctg>Atg	p.L13M	SLC2A5_ENST00000535586.1_Intron|SLC2A5_ENST00000377414.3_Missense_Mutation_p.L13M	NM_003039.2	NP_003030.1	P22732	GTR5_HUMAN	solute carrier family 2 (facilitated glucose/fructose transporter), member 5	13					carbohydrate metabolic process (GO:0005975)|cellular response to fructose stimulus (GO:0071332)|fructose transport (GO:0015755)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	fructose transmembrane transporter activity (GO:0005353)|glucose transmembrane transporter activity (GO:0005355)			endometrium(6)|kidney(15)|large_intestine(6)|lung(4)|ovary(1)|pancreas(2)|prostate(1)|urinary_tract(1)	36	Ovarian(185;0.112)|all_lung(157;0.185)	all_epithelial(116;1.34e-15)|all_lung(118;9.46e-05)|Lung NSC(185;0.000172)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.00715)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;7.78e-07)|COAD - Colon adenocarcinoma(227;8.83e-05)|Kidney(185;0.000286)|KIRC - Kidney renal clear cell carcinoma(229;0.00103)|STAD - Stomach adenocarcinoma(132;0.0019)|BRCA - Breast invasive adenocarcinoma(304;0.00199)|READ - Rectum adenocarcinoma(331;0.0649)		ACAAGCGTCAGCCTCTGCAGA	0.552																																						ENST00000377424.4																			0				endometrium(6)|kidney(15)|large_intestine(6)|lung(4)|ovary(1)|pancreas(2)|prostate(1)|urinary_tract(1)	36						c.(37-39)Ctg>Atg		solute carrier family 2 (facilitated glucose/fructose transporter), member 5							71	59	63					1																	9118306		2203	4300	6503	SO:0001583	missense	6518				carbohydrate metabolic process	integral to membrane|plasma membrane	fructose transmembrane transporter activity|glucose transmembrane transporter activity	g.chr1:9118306G>T	BC001820	CCDS99.1, CCDS44054.1	1p36.2	2013-05-22			ENSG00000142583	ENSG00000142583		"Solute carriers"	11010	protein-coding gene	gene with protein product		138230		GLUT5		9691177	Standard	NM_003039		Approved		uc001apo.3	P22732	OTTHUMG00000001771	ENST00000377424.4:c.37C>A	1.37:g.9118306G>T	ENSP00000366641:p.Leu13Met					SLC2A5_ENST00000377414.3_Missense_Mutation_p.L13M|SLC2A5_ENST00000535586.1_Intron	p.L13M	NM_003039.2	NP_003030.1	P22732	GTR5_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;7.78e-07)|COAD - Colon adenocarcinoma(227;8.83e-05)|Kidney(185;0.000286)|KIRC - Kidney renal clear cell carcinoma(229;0.00103)|STAD - Stomach adenocarcinoma(132;0.0019)|BRCA - Breast invasive adenocarcinoma(304;0.00199)|READ - Rectum adenocarcinoma(331;0.0649)	2	216	-	Ovarian(185;0.112)|all_lung(157;0.185)	all_epithelial(116;1.34e-15)|all_lung(118;9.46e-05)|Lung NSC(185;0.000172)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.00715)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)	13					Q14770|Q5T977|Q8IVB3	Missense_Mutation	SNP	ENST00000377424.4	37	c.37C>A	CCDS99.1	.	.	.	.	.	.	.	.	.	.	G	14.77	2.636001	0.47049	.	.	ENSG00000142583	ENST00000377424;ENST00000456780;ENST00000377414	T;D	0.88354	-1.28;-2.37	5.29	4.18	0.49190	Major facilitator superfamily domain, general substrate transporter (1);	0.555059	0.17666	N	0.166127	D	0.85600	0.5734	L	0.60904	1.88	0.80722	D	1	P;P;P	0.39940	0.696;0.644;0.512	B;B;B	0.38985	0.254;0.287;0.115	D	0.85132	0.0975	10	0.49607	T	0.09	.	8.9668	0.35881	0.0919:0.0:0.7546:0.1535	.	13;13;13	B4DIU4;P22732-2;P22732	.;.;GTR5_HUMAN	M	13	ENSP00000366641:L13M;ENSP00000366631:L13M	ENSP00000366631:L13M	L	-	1	2	SLC2A5	9040893	1.000000	0.71417	0.998000	0.56505	0.972000	0.66771	2.023000	0.41040	2.461000	0.83175	0.491000	0.48974	CTG		0.552	SLC2A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004932.1	NM_003039		12	16	1	0	2.80697e-09	1	2.97546e-09	12	16					T	9118306	G	T	9118306	3	4	435	1	0	0	0	0	1	0	0	0	14548	962	34	5	1676	5	SLC2A5	1	9118306	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	50917	9118306	240132315	47	20972											
GPR157	80045	broad.mit.edu	37	chr1	9171537	9171537	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgccacagtgatgaccaacGggaccccccagctgaggaag	11	4	12	14	1	0	3	0	3	0	0	0	5	0	5	5	2	3	1	5	2	2	0	rs372494295		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:9171537G>A	ENST00000377411.4	-	2	537	c.395C>T	c.(394-396)cCg>cTg	p.P132L	GPR157_ENST00000414642.2_Missense_Mutation_p.P132L	NM_024980.4	NP_079256.4	Q5UAW9	GP157_HUMAN	G protein-coupled receptor 157	132						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			lung(4)|prostate(1)	5	all_lung(157;0.185)	all_epithelial(116;5.02e-20)|all_lung(118;3.6e-06)|Lung NSC(185;7.93e-06)|Renal(390;0.000147)|Breast(348;0.000688)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.16e-07)|COAD - Colon adenocarcinoma(227;7.73e-05)|Kidney(185;0.000252)|KIRC - Kidney renal clear cell carcinoma(229;0.000917)|STAD - Stomach adenocarcinoma(132;0.00178)|BRCA - Breast invasive adenocarcinoma(304;0.00186)|READ - Rectum adenocarcinoma(331;0.0642)		GATGACCAACGGGACCCCCCA	0.617											OREG0013073	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G|||	1	0.000199681	0	0	5008	,	,		19810	0		0	False		,,,				2504	0.001					ENST00000377411.4																			0				lung(4)|prostate(1)	5						c.(394-396)cCg>cTg		G protein-coupled receptor 157		G	LEU/PRO	0,4406		0,0,2203	51	47	48		395	5.2	0.4	1		48	2,8598	1.2+/-3.3	0,2,4298	no	missense	GPR157	NM_024980.4	98	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	probably-damaging	132/336	9171537	2,13004	2203	4300	6503	SO:0001583	missense	80045					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr1:9171537G>A	AK022194	CCDS100.2	1p36.22	2012-08-21			ENSG00000180758	ENSG00000180758		"GPCR / Class B : Orphans"	23687	protein-coding gene	gene with protein product						10574461	Standard	XM_005263496		Approved	FLJ12132	uc001apq.1	Q5UAW9	OTTHUMG00000001758	ENST00000377411.4:c.395C>T	1.37:g.9171537G>A	ENSP00000366628:p.Pro132Leu		OREG0013073	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	654	GPR157_ENST00000414642.2_Missense_Mutation_p.P132L	p.P132L	NM_024980.4	NP_079256.4	Q5UAW9	GP157_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.16e-07)|COAD - Colon adenocarcinoma(227;7.73e-05)|Kidney(185;0.000252)|KIRC - Kidney renal clear cell carcinoma(229;0.000917)|STAD - Stomach adenocarcinoma(132;0.00178)|BRCA - Breast invasive adenocarcinoma(304;0.00186)|READ - Rectum adenocarcinoma(331;0.0642)	2	537	-	all_lung(157;0.185)	all_epithelial(116;5.02e-20)|all_lung(118;3.6e-06)|Lung NSC(185;7.93e-06)|Renal(390;0.000147)|Breast(348;0.000688)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)	132					A2A334|Q8WWB8|Q9HA73	Missense_Mutation	SNP	ENST00000377411.4	37	c.395C>T	CCDS100.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.08|17.08	3.298659|3.298659	0.60195|0.60195	0.0|0.0	2.33E-4|2.33E-4	ENSG00000180758|ENSG00000180758	ENST00000377411;ENST00000414642|ENST00000377408	D;D|.	0.84589|.	-1.87;-1.87|.	5.22|5.22	5.22|5.22	0.72569|0.72569	GPCR, family 2-like (1);GPCR, rhodopsin-like superfamily (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.78880|0.78880	0.4353|0.4353	M|M	0.80982|0.80982	2.52|2.52	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	1.0;1.0;1.0|.	D;D;D|.	0.91635|.	0.995;0.999;0.999|.	T|T	0.82283|0.82283	-0.0534|-0.0534	10|6	0.87932|0.87932	D|D	0|0	-47.4907|-47.4907	17.7643|17.7643	0.88473|0.88473	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	132;132;132|.	E7ENU8;A8KA23;Q5UAW9|.	.;.;GP157_HUMAN|.	L|C	132|129	ENSP00000366628:P132L;ENSP00000411172:P132L|.	ENSP00000366628:P132L|ENSP00000366625:R129C	P|R	-|-	2|1	0|0	GPR157|GPR157	9094124|9094124	1.000000|1.000000	0.71417|0.71417	0.377000|0.377000	0.26055|0.26055	0.009000|0.009000	0.06853|0.06853	8.876000|8.876000	0.92379|0.92379	2.425000|2.425000	0.82216|0.82216	0.585000|0.585000	0.79938|0.79938	CCG|CGT		0.617	GPR157-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127658.2	NM_024980		5	9	0	0	0	1	0	5	9					A	9171537	G	A	9171537	3	1	435	1	0	0	0	0	1	0	0	0	6662	1116	39	2	624	2	GPR157	1	9171537	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	53231	9171537	240079084	48	20973											
PIK3CD	5293	broad.mit.edu	37	chr1	9775719	9775719	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agctggaggacgagcaacggCgtctgtgtgacgtgcagccc	8	6	16	11	4	1	1	0	1	1	0	1	4	1	3	1	3	5	3	1	3	1	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:9775719C>T	ENST00000377346.4	+	4	457	c.262C>T	c.(262-264)Cgt>Tgt	p.R88C	PIK3CD_ENST00000536656.1_Missense_Mutation_p.R88C|PIK3CD_ENST00000361110.2_Missense_Mutation_p.R88C|PIK3CD_ENST00000543390.1_5'Flank	NM_005026.3	NP_005017.3	O00329	PK3CD_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta	88	PI3K-ABD. {ECO:0000255|PROSITE- ProRule:PRU00877}.				adaptive immune response (GO:0002250)|B cell activation (GO:0042113)|B cell chemotaxis (GO:0035754)|B cell homeostasis (GO:0001782)|B cell receptor signaling pathway (GO:0050853)|cytokine production (GO:0001816)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|mast cell chemotaxis (GO:0002551)|mast cell degranulation (GO:0043303)|mast cell differentiation (GO:0060374)|natural killer cell activation (GO:0030101)|natural killer cell chemotaxis (GO:0035747)|natural killer cell differentiation (GO:0001779)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil chemotaxis (GO:0030593)|neutrophil extravasation (GO:0072672)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|protein phosphorylation (GO:0006468)|respiratory burst involved in defense response (GO:0002679)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|T cell activation (GO:0042110)|T cell chemotaxis (GO:0010818)|T cell differentiation (GO:0030217)|T cell receptor signaling pathway (GO:0050852)	cytosol (GO:0005829)|mast cell granule (GO:0042629)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)			central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(12)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31	all_lung(157;0.222)	all_lung(118;2.44e-05)|Lung NSC(185;4.08e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0231)|Colorectal(212;7.52e-08)|COAD - Colon adenocarcinoma(227;1.78e-05)|Kidney(185;0.000322)|KIRC - Kidney renal clear cell carcinoma(229;0.00114)|BRCA - Breast invasive adenocarcinoma(304;0.0021)|STAD - Stomach adenocarcinoma(132;0.00395)|READ - Rectum adenocarcinoma(331;0.0419)	Caffeine(DB00201)	CGAGCAACGGCGTCTGTGTGA	0.617																																						ENST00000536656.1																			0				central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(12)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31						c.(262-264)Cgt>Tgt		phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta							78	73	75					1																	9775719		2203	4300	6503	SO:0001583	missense	5293				phosphatidylinositol-mediated signaling|protein phosphorylation	phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding	g.chr1:9775719C>T		CCDS104.1	1p36.2	2014-09-17	2012-07-13		ENSG00000171608	ENSG00000171608	2.7.1.153		8977	protein-coding gene	gene with protein product	"phosphatidylinositol 3-kinase, catalytic, delta polypeptide", "phosphoinositide-3-kinase C"	602839	"phosphoinositide-3-kinase, catalytic, delta polypeptide"			9113989, 9455486	Standard	NM_005026		Approved	p110D	uc001aqb.4	O00329	OTTHUMG00000001450	ENST00000377346.4:c.262C>T	1.37:g.9775719C>T	ENSP00000366563:p.Arg88Cys					PIK3CD_ENST00000361110.2_Missense_Mutation_p.R88C|PIK3CD_ENST00000377346.4_Missense_Mutation_p.R88C	p.R88C			O00329	PK3CD_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0231)|Colorectal(212;7.52e-08)|COAD - Colon adenocarcinoma(227;1.78e-05)|Kidney(185;0.000322)|KIRC - Kidney renal clear cell carcinoma(229;0.00114)|BRCA - Breast invasive adenocarcinoma(304;0.0021)|STAD - Stomach adenocarcinoma(132;0.00395)|READ - Rectum adenocarcinoma(331;0.0419)	4	470	+	all_lung(157;0.222)	all_lung(118;2.44e-05)|Lung NSC(185;4.08e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)	88					A6NCG0|G1FFP1|O15445|Q5SR49	Missense_Mutation	SNP	ENST00000377346.4	37	c.262C>T	CCDS104.1	.	.	.	.	.	.	.	.	.	.	C	25.8	4.676231	0.88445	.	.	ENSG00000171608	ENST00000536656;ENST00000377346;ENST00000361110;ENST00000360563	T;T;T	0.81078	-1.45;-1.45;-1.45	5.95	4.02	0.46733	Phosphatidylinositol 3-kinase, p85-binding (2);	0.055638	0.85682	D	0.000000	D	0.87370	0.6160	M	0.62723	1.935	0.80722	D	1	B;D;D	0.89917	0.335;1.0;0.999	B;D;D	0.87578	0.377;0.998;0.969	D	0.87323	0.2319	10	0.62326	D	0.03	-48.7178	13.3175	0.60415	0.2971:0.7029:0.0:0.0	.	88;88;88	B7ZM44;Q5SR50;O00329	.;.;PK3CD_HUMAN	C	88	ENSP00000446444:R88C;ENSP00000366563:R88C;ENSP00000354410:R88C	ENSP00000353766:R88C	R	+	1	0	PIK3CD	9698306	1.000000	0.71417	1.000000	0.80357	0.851000	0.48451	3.017000	0.49615	0.782000	0.33613	0.563000	0.77884	CGT		0.617	PIK3CD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004235.1	NM_005026		11	29	0	0	0	1	0	11	29					T	9775719	C	T	9775719	3	4	435	1	0	0	0	0	1	0	0	0	11915	768	27	1	268	1	PIK3CD	1	9775719	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	604182	9775719	239474902	49	20974											
PIK3CD	5293	broad.mit.edu	37	chr1	9775775	9775775	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcctggtggcccgtgagggCgaccgcgtgaagaagctcat	7	6	16	12	5	1	3	1	2	0	1	1	4	1	3	3	3	1	1	3	3	2	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:9775775C>T	ENST00000377346.4	+	4	513	c.318C>T	c.(316-318)ggC>ggT	p.G106G	PIK3CD_ENST00000536656.1_Silent_p.G106G|PIK3CD_ENST00000361110.2_Silent_p.G106G|PIK3CD_ENST00000543390.1_5'Flank	NM_005026.3	NP_005017.3	O00329	PK3CD_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta	106					adaptive immune response (GO:0002250)|B cell activation (GO:0042113)|B cell chemotaxis (GO:0035754)|B cell homeostasis (GO:0001782)|B cell receptor signaling pathway (GO:0050853)|cytokine production (GO:0001816)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|mast cell chemotaxis (GO:0002551)|mast cell degranulation (GO:0043303)|mast cell differentiation (GO:0060374)|natural killer cell activation (GO:0030101)|natural killer cell chemotaxis (GO:0035747)|natural killer cell differentiation (GO:0001779)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil chemotaxis (GO:0030593)|neutrophil extravasation (GO:0072672)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|protein phosphorylation (GO:0006468)|respiratory burst involved in defense response (GO:0002679)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|T cell activation (GO:0042110)|T cell chemotaxis (GO:0010818)|T cell differentiation (GO:0030217)|T cell receptor signaling pathway (GO:0050852)	cytosol (GO:0005829)|mast cell granule (GO:0042629)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)			central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(12)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31	all_lung(157;0.222)	all_lung(118;2.44e-05)|Lung NSC(185;4.08e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0231)|Colorectal(212;7.52e-08)|COAD - Colon adenocarcinoma(227;1.78e-05)|Kidney(185;0.000322)|KIRC - Kidney renal clear cell carcinoma(229;0.00114)|BRCA - Breast invasive adenocarcinoma(304;0.0021)|STAD - Stomach adenocarcinoma(132;0.00395)|READ - Rectum adenocarcinoma(331;0.0419)	Caffeine(DB00201)	CCCGTGAGGGCGACCGCGTGA	0.662																																						ENST00000536656.1																			0				central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(12)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31						c.(316-318)ggC>ggT		phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta							70	69	69					1																	9775775		2203	4300	6503	SO:0001819	synonymous_variant	5293				phosphatidylinositol-mediated signaling|protein phosphorylation	phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding	g.chr1:9775775C>T		CCDS104.1	1p36.2	2014-09-17	2012-07-13		ENSG00000171608	ENSG00000171608	2.7.1.153		8977	protein-coding gene	gene with protein product	"phosphatidylinositol 3-kinase, catalytic, delta polypeptide", "phosphoinositide-3-kinase C"	602839	"phosphoinositide-3-kinase, catalytic, delta polypeptide"			9113989, 9455486	Standard	NM_005026		Approved	p110D	uc001aqb.4	O00329	OTTHUMG00000001450	ENST00000377346.4:c.318C>T	1.37:g.9775775C>T						PIK3CD_ENST00000361110.2_Silent_p.G106G|PIK3CD_ENST00000377346.4_Silent_p.G106G	p.G106G			O00329	PK3CD_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0231)|Colorectal(212;7.52e-08)|COAD - Colon adenocarcinoma(227;1.78e-05)|Kidney(185;0.000322)|KIRC - Kidney renal clear cell carcinoma(229;0.00114)|BRCA - Breast invasive adenocarcinoma(304;0.0021)|STAD - Stomach adenocarcinoma(132;0.00395)|READ - Rectum adenocarcinoma(331;0.0419)	4	526	+	all_lung(157;0.222)	all_lung(118;2.44e-05)|Lung NSC(185;4.08e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)	106					A6NCG0|G1FFP1|O15445|Q5SR49	Silent	SNP	ENST00000377346.4	37	c.318C>T	CCDS104.1																																																																																				0.662	PIK3CD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004235.1	NM_005026		10	43	0	0	0	1	0	10	43					T	9775775	C	T	9775775	2	4	435	1	0	0	0	0	0	0	0	1	11915	755	27	1		1	PIK3CD	1	9775775	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	56	9775775	239474846	50	20975											
PIK3CD	5293	broad.mit.edu	37	chr1	9781512	9781512	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttccctgcagggacgatgagCtgttccagtacctgctgcag	7	10	12	12	1	0	1	0	1	0	0	2	3	2	2	3	1	5	6	3	1	1	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:9781512C>T	ENST00000377346.4	+	15	2017	c.1822C>T	c.(1822-1824)Ctg>Ttg	p.L608L	PIK3CD_ENST00000536656.1_Silent_p.L632L|PIK3CD_ENST00000361110.2_Silent_p.L632L|PIK3CD_ENST00000543390.1_Silent_p.L275L	NM_005026.3	NP_005017.3	O00329	PK3CD_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta	608	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.				adaptive immune response (GO:0002250)|B cell activation (GO:0042113)|B cell chemotaxis (GO:0035754)|B cell homeostasis (GO:0001782)|B cell receptor signaling pathway (GO:0050853)|cytokine production (GO:0001816)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|mast cell chemotaxis (GO:0002551)|mast cell degranulation (GO:0043303)|mast cell differentiation (GO:0060374)|natural killer cell activation (GO:0030101)|natural killer cell chemotaxis (GO:0035747)|natural killer cell differentiation (GO:0001779)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil chemotaxis (GO:0030593)|neutrophil extravasation (GO:0072672)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|protein phosphorylation (GO:0006468)|respiratory burst involved in defense response (GO:0002679)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|T cell activation (GO:0042110)|T cell chemotaxis (GO:0010818)|T cell differentiation (GO:0030217)|T cell receptor signaling pathway (GO:0050852)	cytosol (GO:0005829)|mast cell granule (GO:0042629)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)			central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(12)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31	all_lung(157;0.222)	all_lung(118;2.44e-05)|Lung NSC(185;4.08e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0231)|Colorectal(212;7.52e-08)|COAD - Colon adenocarcinoma(227;1.78e-05)|Kidney(185;0.000322)|KIRC - Kidney renal clear cell carcinoma(229;0.00114)|BRCA - Breast invasive adenocarcinoma(304;0.0021)|STAD - Stomach adenocarcinoma(132;0.00395)|READ - Rectum adenocarcinoma(331;0.0419)	Caffeine(DB00201)	GGACGATGAGCTGTTCCAGTA	0.657																																						ENST00000536656.1																			0				central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(12)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31						c.(1894-1896)Ctg>Ttg		phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta							52	50	50					1																	9781512		2203	4300	6503	SO:0001819	synonymous_variant	5293				phosphatidylinositol-mediated signaling|protein phosphorylation	phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding	g.chr1:9781512C>T		CCDS104.1	1p36.2	2014-09-17	2012-07-13		ENSG00000171608	ENSG00000171608	2.7.1.153		8977	protein-coding gene	gene with protein product	"phosphatidylinositol 3-kinase, catalytic, delta polypeptide", "phosphoinositide-3-kinase C"	602839	"phosphoinositide-3-kinase, catalytic, delta polypeptide"			9113989, 9455486	Standard	NM_005026		Approved	p110D	uc001aqb.4	O00329	OTTHUMG00000001450	ENST00000377346.4:c.1822C>T	1.37:g.9781512C>T						PIK3CD_ENST00000543390.1_Silent_p.L275L|PIK3CD_ENST00000361110.2_Silent_p.L632L|PIK3CD_ENST00000377346.4_Silent_p.L608L	p.L632L			O00329	PK3CD_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0231)|Colorectal(212;7.52e-08)|COAD - Colon adenocarcinoma(227;1.78e-05)|Kidney(185;0.000322)|KIRC - Kidney renal clear cell carcinoma(229;0.00114)|BRCA - Breast invasive adenocarcinoma(304;0.0021)|STAD - Stomach adenocarcinoma(132;0.00395)|READ - Rectum adenocarcinoma(331;0.0419)	15	2102	+	all_lung(157;0.222)	all_lung(118;2.44e-05)|Lung NSC(185;4.08e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)	608					A6NCG0|G1FFP1|O15445|Q5SR49	Silent	SNP	ENST00000377346.4	37	c.1894C>T	CCDS104.1																																																																																				0.657	PIK3CD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004235.1	NM_005026		10	15	0	0	0	1	0	10	15					T	9781512	C	T	9781512	2	4	435	1	0	0	0	0	0	0	0	1	11915	796	28	3		3	PIK3CD	1	9781512	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	5737	9781512	239469109	51	20976											
CLSTN1	22883	broad.mit.edu	37	chr1	9795233	9795233	+	Splice_Site	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aggtggcctcgttaaaacacCtgccagcaagaaatggggaa	14	6	12	9	1	0	1	0	0	0	1	1	2	0	2	3	4	3	2	3	4	5	1	rs113333732		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:9795233C>G	ENST00000377298.4	-	14	2676		c.e14-1		CLSTN1_ENST00000477264.1_5'Flank|CLSTN1_ENST00000361311.4_Splice_Site|CLSTN1_ENST00000377288.3_Splice_Site	NM_001009566.1	NP_001009566.1	O94985	CSTN1_HUMAN	calsyntenin 1						cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)	cell junction (GO:0030054)|cell projection (GO:0042995)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)	beta-amyloid binding (GO:0001540)|calcium ion binding (GO:0005509)|kinesin binding (GO:0019894)|X11-like protein binding (GO:0042988)			breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(9)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	36	all_lung(157;0.222)	all_lung(284;4.03e-05)|Lung NSC(185;6.93e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|Colorectal(212;8.36e-08)|COAD - Colon adenocarcinoma(227;1.93e-05)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(304;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|STAD - Stomach adenocarcinoma(132;0.00644)|READ - Rectum adenocarcinoma(331;0.0419)		GTTAAAACACCTGCCAGCAAG	0.587																																						ENST00000377298.4																			0				breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(9)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	36						c.e14-1		calsyntenin 1							51	55	54					1																	9795233		2203	4300	6503	SO:0001630	splice_region_variant	22883				homophilic cell adhesion	cell junction|cell projection|endoplasmic reticulum membrane|Golgi membrane|integral to membrane|nucleus|postsynaptic membrane	calcium ion binding	g.chr1:9795233C>G	AB020718	CCDS105.1, CCDS30580.1	1p36.22	2011-07-01			ENSG00000171603	ENSG00000171603		"Cadherins / Cadherin-related"	17447	protein-coding gene	gene with protein product	"cadherin-related family member 12"	611321				10048485	Standard	XM_005263432		Approved	CSTN1, KIAA0911, CDHR12	uc001aqh.3	O94985	OTTHUMG00000001451	ENST00000377298.4:c.1884-1G>C	1.37:g.9795233C>G						CLSTN1_ENST00000377288.3_Splice_Site|CLSTN1_ENST00000361311.4_Splice_Site		NM_001009566.1	NP_001009566.1	O94985	CSTN1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|Colorectal(212;8.36e-08)|COAD - Colon adenocarcinoma(227;1.93e-05)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(304;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|STAD - Stomach adenocarcinoma(132;0.00644)|READ - Rectum adenocarcinoma(331;0.0419)	14	2676	-	all_lung(157;0.222)	all_lung(284;4.03e-05)|Lung NSC(185;6.93e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)						A8K183|Q5SR52|Q5UE58|Q71MN0|Q8N4K9	Splice_Site	SNP	ENST00000377298.4	37		CCDS30580.1	.	.	.	.	.	.	.	.	.	.	C	29.5	5.014328	0.93404	.	.	ENSG00000171603	ENST00000377298;ENST00000361311;ENST00000435891;ENST00000377288;ENST00000539822	.	.	.	5.91	5.91	0.95273	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.2985	0.98592	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CLSTN1	9717820	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	7.761000	0.85260	2.793000	0.96121	0.655000	0.94253	.		0.587	CLSTN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000004239.1		Intron	8	51	0	0	0	1	0	8	51					G	9795233	C	G	9795233	5	3	435	1	0	0	0	0	0	0	1	0	3561	695	24	5	1086	5	CLSTN1	1	9795233	Splice_Site	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	13721	9795233	239455388	52	20977											
CLSTN1	22883	broad.mit.edu	37	chr1	9811643	9811643	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tccaccctcaaaatgctgtcGtactgcttcccctcgatgac	8	11	6	16	2	1	1	1	1	0	0	5	2	3	1	4	0	3	3	4	0	3	2	rs141907444	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:9811643G>A	ENST00000377298.4	-	5	1329	c.537C>T	c.(535-537)taC>taT	p.Y179Y	CLSTN1_ENST00000361311.4_Silent_p.Y169Y|CLSTN1_ENST00000377288.3_Silent_p.Y179Y	NM_001009566.1	NP_001009566.1	O94985	CSTN1_HUMAN	calsyntenin 1	179	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)	cell junction (GO:0030054)|cell projection (GO:0042995)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)	beta-amyloid binding (GO:0001540)|calcium ion binding (GO:0005509)|kinesin binding (GO:0019894)|X11-like protein binding (GO:0042988)			breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(9)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	36	all_lung(157;0.222)	all_lung(284;4.03e-05)|Lung NSC(185;6.93e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|Colorectal(212;8.36e-08)|COAD - Colon adenocarcinoma(227;1.93e-05)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(304;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|STAD - Stomach adenocarcinoma(132;0.00644)|READ - Rectum adenocarcinoma(331;0.0419)		AAATGCTGTCGTACTGCTTCC	0.537													G|||	2	0.000399361	0.0015	0	5008	,	,		19153	0		0	False		,,,				2504	0					ENST00000377298.4																			0				breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(9)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	36						c.(535-537)taC>taT		calsyntenin 1		G	,	9,4397	15.5+/-35.6	0,9,2194	117	104	108		537,507	-3	0.3	1	dbSNP_134	108	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	CLSTN1	NM_001009566.1,NM_014944.3	,	0,9,6494	AA,AG,GG		0.0,0.2043,0.0692	,	179/982,169/972	9811643	9,12997	2203	4300	6503	SO:0001819	synonymous_variant	22883				homophilic cell adhesion	cell junction|cell projection|endoplasmic reticulum membrane|Golgi membrane|integral to membrane|nucleus|postsynaptic membrane	calcium ion binding	g.chr1:9811643G>A	AB020718	CCDS105.1, CCDS30580.1	1p36.22	2011-07-01			ENSG00000171603	ENSG00000171603		"Cadherins / Cadherin-related"	17447	protein-coding gene	gene with protein product	"cadherin-related family member 12"	611321				10048485	Standard	XM_005263432		Approved	CSTN1, KIAA0911, CDHR12	uc001aqh.3	O94985	OTTHUMG00000001451	ENST00000377298.4:c.537C>T	1.37:g.9811643G>A						CLSTN1_ENST00000377288.3_Silent_p.Y179Y|CLSTN1_ENST00000361311.4_Silent_p.Y169Y	p.Y179Y	NM_001009566.1	NP_001009566.1	O94985	CSTN1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|Colorectal(212;8.36e-08)|COAD - Colon adenocarcinoma(227;1.93e-05)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(304;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|STAD - Stomach adenocarcinoma(132;0.00644)|READ - Rectum adenocarcinoma(331;0.0419)	5	1329	-	all_lung(157;0.222)	all_lung(284;4.03e-05)|Lung NSC(185;6.93e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)	179			Cadherin 2.		A8K183|Q5SR52|Q5UE58|Q71MN0|Q8N4K9	Silent	SNP	ENST00000377298.4	37	c.537C>T	CCDS30580.1																																																																																				0.537	CLSTN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000004239.1			20	43	0	0	0	1	0	20	43					A	9811643	G	A	9811643	2	1	435	1	0	0	0	0	0	0	0	1	3561	1140	40	1		1	CLSTN1	1	9811643	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	16410	9811643	239438978	53	20978											
UBE4B	10277	broad.mit.edu	37	chr1	10231366	10231366	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctggactgtgctcggttcgcGaaagccattgctgacgacca	8	9	12	12	4	0	1	0	1	0	0	2	4	0	2	2	2	3	3	2	2	1	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:10231366G>A	ENST00000253251.8	+	24	3956	c.3117G>A	c.(3115-3117)gcG>gcA	p.A1039A	UBE4B_ENST00000343090.6_Silent_p.A1168A|UBE4B_ENST00000377157.3_Silent_p.A923A					ubiquitination factor E4B											NS(3)|breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(14)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	48		all_lung(284;1.13e-05)|Lung NSC(185;1.74e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0268)|Colorectal(212;1.42e-07)|COAD - Colon adenocarcinoma(227;2.77e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000435)|Kidney(185;0.000482)|KIRC - Kidney renal clear cell carcinoma(229;0.00164)|STAD - Stomach adenocarcinoma(132;0.0117)|READ - Rectum adenocarcinoma(331;0.046)		CTCGGTTCGCGAAAGCCATTG	0.478																																						ENST00000377157.3																			0				NS(3)|breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(14)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	48						c.(2767-2769)gcG>gcA		ubiquitination factor E4B							100	97	98					1																	10231366		2203	4300	6503	SO:0001819	synonymous_variant	10277				apoptosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to UV	cytoplasm|ubiquitin ligase complex	enzyme binding	g.chr1:10231366G>A	AF091093	CCDS110.1, CCDS41245.1	1p36.1	2013-01-28	2011-05-19		ENSG00000130939	ENSG00000130939		"U-box domain containing"	12500	protein-coding gene	gene with protein product		613565	"ubiquitination factor E4B (homologous to yeast UFD2)", "ubiquitination factor E4B (UFD2 homolog, yeast)"			9734811, 10089879	Standard	NM_006048		Approved	UBOX3, E4, UFD2, KIAA0684	uc001aqs.4	O95155	OTTHUMG00000001797	ENST00000253251.8:c.3117G>A	1.37:g.10231366G>A						UBE4B_ENST00000253251.8_Silent_p.A1039A|UBE4B_ENST00000343090.6_Silent_p.A1168A	p.A923A	NM_006048.4	NP_006039.2	O95155	UBE4B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0268)|Colorectal(212;1.42e-07)|COAD - Colon adenocarcinoma(227;2.77e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000435)|Kidney(185;0.000482)|KIRC - Kidney renal clear cell carcinoma(229;0.00164)|STAD - Stomach adenocarcinoma(132;0.0117)|READ - Rectum adenocarcinoma(331;0.046)	24	3830	+		all_lung(284;1.13e-05)|Lung NSC(185;1.74e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)	1168						Silent	SNP	ENST00000253251.8	37	c.2769G>A	CCDS110.1																																																																																				0.478	UBE4B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005017.1	NM_006048		27	52	0	0	0	1	0	27	52					A	10231366	G	A	10231366	2	1	435	1	0	0	0	0	0	0	0	1	16880	1045	37	2		2	UBE4B	1	10231366	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	419723	10231366	239019255	54	20979											
DFFA	1676	broad.mit.edu	37	chr1	10523527	10523527	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gctgccctctttctccaaagCctggaggtacagctgcagga	8	9	11	13	0	2	0	0	0	2	0	3	2	2	2	3	3	5	4	3	3	2	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:10523527C>T	ENST00000377038.3	-	4	659	c.592G>A	c.(592-594)Gct>Act	p.A198T	DFFA_ENST00000377036.2_Missense_Mutation_p.A198T	NM_004401.2	NP_004392.1	O00273	DFFA_HUMAN	DNA fragmentation factor, 45kDa, alpha polypeptide	198					apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|negative regulation of apoptotic DNA fragmentation (GO:1902511)|negative regulation of execution phase of apoptosis (GO:1900118)|positive regulation of apoptotic process (GO:0043065)|thymocyte apoptotic process (GO:0070242)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				large_intestine(3)|lung(2)	5	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.19e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.25e-07)|COAD - Colon adenocarcinoma(227;7.25e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000296)|Kidney(185;0.00074)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0487)		TTCTCCAAAGCCTGGAGGTAC	0.572																																						ENST00000377038.3																			0				large_intestine(3)|lung(2)	5						c.(592-594)Gct>Act		DNA fragmentation factor, 45kDa, alpha polypeptide							68	66	67					1																	10523527		2203	4300	6503	SO:0001583	missense	1676				DNA fragmentation involved in apoptotic nuclear change|intracellular signal transduction|negative regulation of apoptosis	cytosol|mitochondrion|nucleoplasm|plasma membrane	deoxyribonuclease activity|identical protein binding	g.chr1:10523527C>T	AF087573	CCDS118.1, CCDS119.1	1p36.3-p36.2	2008-07-18	2002-08-29		ENSG00000160049	ENSG00000160049			2772	protein-coding gene	gene with protein product	"DNA fragmentation factor, 45 kD, alpha subunit"	601882	"DNA fragmentation factor, 45 kD, alpha polypeptide"			9605855, 9108473	Standard	NM_004401		Approved	DFF-45, DFF45, ICAD, DFF1	uc001arj.3	O00273	OTTHUMG00000001909	ENST00000377038.3:c.592G>A	1.37:g.10523527C>T	ENSP00000366237:p.Ala198Thr					DFFA_ENST00000377036.2_Missense_Mutation_p.A198T	p.A198T	NM_004401.2	NP_004392.1	O00273	DFFA_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.25e-07)|COAD - Colon adenocarcinoma(227;7.25e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000296)|Kidney(185;0.00074)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0487)	4	659	-	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.19e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)	198					Q5T6G5|Q5T6G6|Q96I97|Q9Y6C6	Missense_Mutation	SNP	ENST00000377038.3	37	c.592G>A	CCDS118.1	.	.	.	.	.	.	.	.	.	.	C	32	5.128127	0.94473	.	.	ENSG00000160049	ENST00000377038;ENST00000377036	.	.	.	5.39	5.39	0.77823	DNA fragmentation factor 45kDa, C-terminal (2);	0.047201	0.85682	D	0.000000	T	0.79656	0.4483	M	0.70275	2.135	0.58432	D	0.999996	D;D	0.89917	0.996;1.0	P;D	0.91635	0.846;0.999	T	0.81556	-0.0879	9	0.87932	D	0	-15.1501	19.1371	0.93431	0.0:1.0:0.0:0.0	.	198;198	O00273-2;O00273	.;DFFA_HUMAN	T	198	.	ENSP00000366235:A198T	A	-	1	0	DFFA	10446114	1.000000	0.71417	0.798000	0.32154	0.935000	0.57460	4.160000	0.58164	2.524000	0.85096	0.650000	0.86243	GCT		0.572	DFFA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005418.1	NM_004401		41	53	0	0	0	1	0	41	53					T	10523527	C	T	10523527	3	4	435	1	0	0	0	0	1	0	0	0	4452	739	26	3	439	3	DFFA	1	10523527	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	292161	10523527	238727094	55	20980											
DFFA	1676	broad.mit.edu	37	chr1	10523635	10523635	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gacggtggcacaactctgacGtagttcctgagccaggtctg	8	9	13	11	2	2	2	0	2	2	0	3	3	3	2	2	3	2	3	2	3	2	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:10523635G>A	ENST00000377038.3	-	4	551	c.484C>T	c.(484-486)Cgt>Tgt	p.R162C	DFFA_ENST00000377036.2_Missense_Mutation_p.R162C	NM_004401.2	NP_004392.1	O00273	DFFA_HUMAN	DNA fragmentation factor, 45kDa, alpha polypeptide	162					apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|negative regulation of apoptotic DNA fragmentation (GO:1902511)|negative regulation of execution phase of apoptosis (GO:1900118)|positive regulation of apoptotic process (GO:0043065)|thymocyte apoptotic process (GO:0070242)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				large_intestine(3)|lung(2)	5	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.19e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.25e-07)|COAD - Colon adenocarcinoma(227;7.25e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000296)|Kidney(185;0.00074)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0487)		CAACTCTGACGTAGTTCCTGA	0.507																																						ENST00000377038.3																			0				large_intestine(3)|lung(2)	5						c.(484-486)Cgt>Tgt		DNA fragmentation factor, 45kDa, alpha polypeptide							88	78	81					1																	10523635		2203	4300	6503	SO:0001583	missense	1676				DNA fragmentation involved in apoptotic nuclear change|intracellular signal transduction|negative regulation of apoptosis	cytosol|mitochondrion|nucleoplasm|plasma membrane	deoxyribonuclease activity|identical protein binding	g.chr1:10523635G>A	AF087573	CCDS118.1, CCDS119.1	1p36.3-p36.2	2008-07-18	2002-08-29		ENSG00000160049	ENSG00000160049			2772	protein-coding gene	gene with protein product	"DNA fragmentation factor, 45 kD, alpha subunit"	601882	"DNA fragmentation factor, 45 kD, alpha polypeptide"			9605855, 9108473	Standard	NM_004401		Approved	DFF-45, DFF45, ICAD, DFF1	uc001arj.3	O00273	OTTHUMG00000001909	ENST00000377038.3:c.484C>T	1.37:g.10523635G>A	ENSP00000366237:p.Arg162Cys					DFFA_ENST00000377036.2_Missense_Mutation_p.R162C	p.R162C	NM_004401.2	NP_004392.1	O00273	DFFA_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.25e-07)|COAD - Colon adenocarcinoma(227;7.25e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000296)|Kidney(185;0.00074)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0487)	4	551	-	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.19e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)	162					Q5T6G5|Q5T6G6|Q96I97|Q9Y6C6	Missense_Mutation	SNP	ENST00000377038.3	37	c.484C>T	CCDS118.1	.	.	.	.	.	.	.	.	.	.	G	9.006	0.981398	0.18812	.	.	ENSG00000160049	ENST00000377038;ENST00000377036	.	.	.	4.82	-9.64	0.00541	DNA fragmentation factor 45kDa, C-terminal (2);	1.256650	0.05201	N	0.505002	T	0.06005	0.0156	N	0.00347	-1.61	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.44390	-0.9331	9	0.54805	T	0.06	1.7704	2.1706	0.03848	0.2332:0.3086:0.3049:0.1533	.	162;162	O00273-2;O00273	.;DFFA_HUMAN	C	162	.	ENSP00000366235:R162C	R	-	1	0	DFFA	10446222	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.831000	0.01698	-2.629000	0.00435	-0.355000	0.07637	CGT		0.507	DFFA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005418.1	NM_004401		44	68	0	0	0	1	0	44	68					A	10523635	G	A	10523635	3	1	435	1	0	0	0	0	1	0	0	0	4452	1145	40	1	547	1	DFFA	1	10523635	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	108	10523635	238726986	56	20981											
CASZ1	54897	broad.mit.edu	37	chr1	10699862	10699862	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcgcgtgcttgtacatgtGcgtgcgcccgcagaacttgt	5	11	13	12	5	0	1	0	0	0	1	0	1	0	1	1	0	6	3	1	0	2	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:10699862G>A	ENST00000377022.3	-	21	4734	c.4417C>T	c.(4417-4419)Cac>Tac	p.H1473Y	RP4-734G22.3_ENST00000606802.1_RNA	NM_001079843.2	NP_001073312.1	Q86V15	CASZ1_HUMAN	castor zinc finger 1	1473					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|large_intestine(13)|lung(18)|ovary(2)|prostate(5)|skin(2)|urinary_tract(1)	54	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)		TTGTACATGTGCGTGCGCCCG	0.607																																						ENST00000377022.3																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|large_intestine(13)|lung(18)|ovary(2)|prostate(5)|skin(2)|urinary_tract(1)	54						c.(4417-4419)Cac>Tac		castor zinc finger 1							40	53	49					1																	10699862		2168	4269	6437	SO:0001583	missense	54897				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding	g.chr1:10699862G>A	AK000328	CCDS120.2, CCDS41246.1	1p36.22	2013-01-07	2007-02-02		ENSG00000130940	ENSG00000130940		"Zinc fingers, C2H2-type"	26002	protein-coding gene	gene with protein product	"zinc finger protein 693", "survival related gene"	609895	"castor homolog 1, zinc finger (Drosophila)"			16631614, 21252912	Standard	NM_001079843		Approved	FLJ20321, ZNF693, castor, cst, SRG	uc001aro.4	Q86V15	OTTHUMG00000002035	ENST00000377022.3:c.4417C>T	1.37:g.10699862G>A	ENSP00000366221:p.His1473Tyr					RP4-734G22.3_ENST00000606802.1_RNA	p.H1473Y	NM_001079843.1	NP_001073312.1	Q86V15	CASZ1_HUMAN	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)	21	4734	-	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	1473					Q078S9|Q2EN02|Q5T9S1|Q6ZNM8|Q8WX49|Q8WX50|Q9BT16|Q9NXC6	Missense_Mutation	SNP	ENST00000377022.3	37	c.4417C>T	CCDS41246.1	.	.	.	.	.	.	.	.	.	.	G	28.1	4.890386	0.91889	.	.	ENSG00000130940	ENST00000377022	.	.	.	4.84	4.84	0.62591	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);	0.000000	0.48767	U	0.000164	T	0.64746	0.2626	L	0.29908	0.895	0.80722	D	1	D	0.56287	0.975	D	0.71656	0.974	T	0.60198	-0.7310	9	0.21540	T	0.41	-19.4155	17.9336	0.89006	0.0:0.0:1.0:0.0	.	1473	Q86V15	CASZ1_HUMAN	Y	1473	.	ENSP00000366221:H1473Y	H	-	1	0	CASZ1	10622449	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.750000	0.98875	2.237000	0.73441	0.460000	0.39030	CAC		0.607	CASZ1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005673.2	NM_017766		4	10	0	0	0	1	0	4	10					A	10699862	G	A	10699862	3	1	435	1	0	0	0	0	1	0	0	0	2685	1319	46	3	866	3	CASZ1	1	10699862	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	176227	10699862	238550759	57	20982											
CASZ1	54897	broad.mit.edu	37	chr1	10714603	10714603	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cttcttgtggaagttctcgtGggtcatcacgtcagacgtgc	6	13	12	10	3	5	1	3	0	2	1	6	2	5	2	0	2	1	1	0	2	1	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:10714603G>A	ENST00000377022.3	-	10	2028	c.1711C>T	c.(1711-1713)Cac>Tac	p.H571Y	RP4-734G22.3_ENST00000606802.1_RNA|CASZ1_ENST00000344008.5_Missense_Mutation_p.H571Y	NM_001079843.2	NP_001073312.1	Q86V15	CASZ1_HUMAN	castor zinc finger 1	571					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|large_intestine(13)|lung(18)|ovary(2)|prostate(5)|skin(2)|urinary_tract(1)	54	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)		AAGTTCTCGTGGGTCATCACG	0.597																																						ENST00000377022.3																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|large_intestine(13)|lung(18)|ovary(2)|prostate(5)|skin(2)|urinary_tract(1)	54						c.(1711-1713)Cac>Tac		castor zinc finger 1							254	230	238					1																	10714603		2203	4300	6503	SO:0001583	missense	54897				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding	g.chr1:10714603G>A	AK000328	CCDS120.2, CCDS41246.1	1p36.22	2013-01-07	2007-02-02		ENSG00000130940	ENSG00000130940		"Zinc fingers, C2H2-type"	26002	protein-coding gene	gene with protein product	"zinc finger protein 693", "survival related gene"	609895	"castor homolog 1, zinc finger (Drosophila)"			16631614, 21252912	Standard	NM_001079843		Approved	FLJ20321, ZNF693, castor, cst, SRG	uc001aro.4	Q86V15	OTTHUMG00000002035	ENST00000377022.3:c.1711C>T	1.37:g.10714603G>A	ENSP00000366221:p.His571Tyr					CASZ1_ENST00000344008.5_Missense_Mutation_p.H571Y	p.H571Y	NM_001079843.1	NP_001073312.1	Q86V15	CASZ1_HUMAN	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)	10	2028	-	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	571					Q078S9|Q2EN02|Q5T9S1|Q6ZNM8|Q8WX49|Q8WX50|Q9BT16|Q9NXC6	Missense_Mutation	SNP	ENST00000377022.3	37	c.1711C>T	CCDS41246.1	.	.	.	.	.	.	.	.	.	.	G	27.7	4.850663	0.91277	.	.	ENSG00000130940	ENST00000377022;ENST00000344008	.	.	.	4.97	4.97	0.65823	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);	0.000000	0.85682	D	0.000000	T	0.77974	0.4211	M	0.64404	1.975	0.58432	D	0.999999	D;D;D	0.89917	1.0;0.999;0.976	D;D;D	0.91635	0.999;0.997;0.98	T	0.80367	-0.1412	9	0.87932	D	0	-18.3993	18.6257	0.91336	0.0:0.0:1.0:0.0	.	595;571;571	B7Z1S3;Q86V15-2;Q86V15	.;.;CASZ1_HUMAN	Y	571	.	ENSP00000339445:H571Y	H	-	1	0	CASZ1	10637190	1.000000	0.71417	0.972000	0.41901	0.613000	0.37349	7.561000	0.82288	2.478000	0.83669	0.561000	0.74099	CAC		0.597	CASZ1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005673.2	NM_017766		28	83	0	0	0	1	0	28	83					A	10714603	G	A	10714603	3	1	435	1	0	0	0	0	1	0	0	0	2685	1348	47	3	3620	3	CASZ1	1	10714603	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	14741	10714603	238536018	58	20983											
MASP2	10747	broad.mit.edu	37	chr1	11090891	11090891	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcactccaggacctgtgatgTactccactcggccactgggt	7	10	10	14	1	1	1	1	1	0	0	4	2	3	2	4	3	1	1	4	3	1	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:11090891T>C	ENST00000400897.3	-	9	1151	c.1136A>G	c.(1135-1137)tAc>tGc	p.Y379C	RP4-635E18.8_ENST00000607145.1_RNA	NM_006610.3	NP_006601.2	O00187	MASP2_HUMAN	mannan-binding lectin serine peptidase 2	379	Sushi 2. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|complement activation, lectin pathway (GO:0001867)|innate immune response (GO:0045087)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|calcium-dependent protein binding (GO:0048306)|complement component C4b binding (GO:0001855)|peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)			biliary_tract(1)|endometrium(2)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23	Ovarian(185;0.249)	Lung NSC(185;1.04e-05)|all_lung(284;1.31e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.071)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.12e-07)|COAD - Colon adenocarcinoma(227;7.07e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|READ - Rectum adenocarcinoma(331;0.0487)|STAD - Stomach adenocarcinoma(313;0.192)		ACCTGTGATGTACTCCACTCG	0.458																																					GBM(35;611 746 20780 22741 36496)	ENST00000400897.3																			0				biliary_tract(1)|endometrium(2)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23						c.(1135-1137)tAc>tGc		mannan-binding lectin serine peptidase 2							107	90	95					1																	11090891		2203	4300	6503	SO:0001583	missense	10747				complement activation, classical pathway|complement activation, lectin pathway|proteolysis	extracellular region	calcium ion binding|calcium-dependent protein binding|serine-type endopeptidase activity	g.chr1:11090891T>C	X98400	CCDS123.1, CCDS124.1	1p36.3-p36.2	2014-09-17	2005-08-17		ENSG00000009724	ENSG00000009724			6902	protein-coding gene	gene with protein product		605102	"mannan-binding lectin serine protease 2", "mannan-binding lectin serine peptidase 1 pseudogene 1", "mannan-binding lectin serine protease 1 pseudogene 1"	MASP1P1		9087411, 9777418	Standard	NM_006610		Approved		uc001aru.3	O00187	OTTHUMG00000002121	ENST00000400897.3:c.1136A>G	1.37:g.11090891T>C	ENSP00000383690:p.Tyr379Cys						p.Y379C	NM_006610.3	NP_006601.2	O00187	MASP2_HUMAN	STAD - Stomach adenocarcinoma(5;0.071)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.12e-07)|COAD - Colon adenocarcinoma(227;7.07e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|READ - Rectum adenocarcinoma(331;0.0487)|STAD - Stomach adenocarcinoma(313;0.192)	9	1151	-	Ovarian(185;0.249)	Lung NSC(185;1.04e-05)|all_lung(284;1.31e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	379			Sushi 2.		A8K458|A8MWJ2|O75754|Q5TEQ5|Q5TER0|Q96QG4|Q9BZH0|Q9H498|Q9H499|Q9UBP3|Q9UC48|Q9ULC7|Q9UMV3|Q9Y270	Missense_Mutation	SNP	ENST00000400897.3	37	c.1136A>G	CCDS123.1	.	.	.	.	.	.	.	.	.	.	T	11.95	1.792989	0.31685	.	.	ENSG00000009724	ENST00000400897	T	0.65916	-0.18	5.38	4.24	0.50183	Complement control module (2);Sushi/SCR/CCP (3);	0.236365	0.36101	N	0.002782	T	0.77075	0.4077	M	0.86268	2.805	0.58432	D	0.999996	D	0.71674	0.998	D	0.62955	0.909	T	0.78748	-0.2083	10	0.87932	D	0	.	9.5585	0.39355	0.2805:0.0:0.0:0.7195	.	379	O00187	MASP2_HUMAN	C	379	ENSP00000383690:Y379C	ENSP00000383690:Y379C	Y	-	2	0	MASP2	11013478	0.209000	0.23505	0.002000	0.10522	0.132000	0.20833	1.374000	0.34283	0.857000	0.35407	0.459000	0.35465	TAC		0.458	MASP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006072.1	NM_006610		18	20	0	0	0	1	0	18	20					C	11090891	T	C	11090891	3	2	435	1	0	0	0	0	1	0	0	0	9323	1638	57	4	936	4	MASP2	1	11090891	Missense_Mutation	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	376288	11090891	238159730	59	20984											
SRM	6723	broad.mit.edu	37	chr1	11115092	11115092	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtacttcagctgcatctgcGccacctgctgctgtgtcagc	6	11	10	14	1	3	0	2	0	1	0	3	0	3	0	2	0	7	5	2	0	1	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:11115092G>A	ENST00000376957.2	-	7	895	c.815C>T	c.(814-816)gCg>gTg	p.A272V		NM_003132.2	NP_003123.2	P19623	SPEE_HUMAN	spermidine synthase	272					cellular nitrogen compound metabolic process (GO:0034641)|polyamine metabolic process (GO:0006595)|small molecule metabolic process (GO:0044281)|spermidine biosynthetic process (GO:0008295)	cytosol (GO:0005829)	protein homodimerization activity (GO:0042803)|spermidine synthase activity (GO:0004766)			large_intestine(1)|lung(1)|urinary_tract(1)	3	Ovarian(185;0.249)	Lung NSC(185;1.74e-05)|all_lung(284;2.05e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.228)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.14e-07)|COAD - Colon adenocarcinoma(227;7.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000294)|Kidney(185;0.000728)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|READ - Rectum adenocarcinoma(331;0.0487)|STAD - Stomach adenocarcinoma(313;0.192)	S-Adenosylmethionine(DB00118)	CTGCATCTGCGCCACCTGCTG	0.632																																						ENST00000376957.2																			0				large_intestine(1)|lung(1)|urinary_tract(1)	3						c.(814-816)gCg>gTg		spermidine synthase	S-Adenosylmethionine(DB00118)|Spermine(DB00127)						39	42	41					1																	11115092		2203	4300	6503	SO:0001583	missense	6723				spermidine biosynthetic process	cytosol	protein homodimerization activity|spermidine synthase activity	g.chr1:11115092G>A	BC033106	CCDS125.1	1p36-p22	2010-11-08			ENSG00000116649	ENSG00000116649	2.5.1.16		11296	protein-coding gene	gene with protein product		182891		SRML1		2344393	Standard	NM_003132		Approved	SPS1	uc001arz.1	P19623	OTTHUMG00000002119	ENST00000376957.2:c.815C>T	1.37:g.11115092G>A	ENSP00000366156:p.Ala272Val						p.A272V	NM_003132.2	NP_003123.2	P19623	SPEE_HUMAN	STAD - Stomach adenocarcinoma(5;0.228)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.14e-07)|COAD - Colon adenocarcinoma(227;7.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000294)|Kidney(185;0.000728)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|READ - Rectum adenocarcinoma(331;0.0487)|STAD - Stomach adenocarcinoma(313;0.192)	7	895	-	Ovarian(185;0.249)	Lung NSC(185;1.74e-05)|all_lung(284;2.05e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	272					B1AKP9|Q15511	Missense_Mutation	SNP	ENST00000376957.2	37	c.815C>T	CCDS125.1	.	.	.	.	.	.	.	.	.	.	G	8.434	0.849234	0.17034	.	.	ENSG00000116649	ENST00000376957	T	0.76186	-1.0	5.29	2.83	0.33086	.	0.211095	0.47852	D	0.000202	T	0.53400	0.1794	L	0.27053	0.805	0.25713	N	0.985464	B	0.30851	0.297	B	0.15870	0.014	T	0.37596	-0.9699	10	0.27785	T	0.31	.	7.4297	0.27120	0.137:0.0:0.1549:0.7081	.	272	P19623	SPEE_HUMAN	V	272	ENSP00000366156:A272V	ENSP00000366156:A272V	A	-	2	0	SRM	11037679	0.991000	0.36638	0.511000	0.27724	0.031000	0.12232	2.221000	0.42917	0.851000	0.35264	-0.397000	0.06425	GCG		0.632	SRM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006056.1	NM_003132		22	68	0	0	0	1	0	22	68					A	11115092	G	A	11115092	3	1	435	1	0	0	0	0	1	0	0	0	15150	1087	38	1	101	1	SRM	1	11115092	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	24201	11115092	238135529	60	20985											
SRM	6723	broad.mit.edu	37	chr1	11119363	11119363	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tcgtctctctccgtgcactgGatgacaccgtccaacaccag	8	9	8	16	3	2	1	0	1	2	0	6	2	3	2	4	1	2	1	4	1	1	0	rs34097618		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:11119363G>A	ENST00000376957.2	-	2	287	c.207C>T	c.(205-207)atC>atT	p.I69I		NM_003132.2	NP_003123.2	P19623	SPEE_HUMAN	spermidine synthase	69	PABS.				cellular nitrogen compound metabolic process (GO:0034641)|polyamine metabolic process (GO:0006595)|small molecule metabolic process (GO:0044281)|spermidine biosynthetic process (GO:0008295)	cytosol (GO:0005829)	protein homodimerization activity (GO:0042803)|spermidine synthase activity (GO:0004766)			large_intestine(1)|lung(1)|urinary_tract(1)	3	Ovarian(185;0.249)	Lung NSC(185;1.74e-05)|all_lung(284;2.05e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.228)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.14e-07)|COAD - Colon adenocarcinoma(227;7.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000294)|Kidney(185;0.000728)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|READ - Rectum adenocarcinoma(331;0.0487)|STAD - Stomach adenocarcinoma(313;0.192)	S-Adenosylmethionine(DB00118)	CCGTGCACTGGATGACACCGT	0.612																																						ENST00000376957.2																			0				large_intestine(1)|lung(1)|urinary_tract(1)	3						c.(205-207)atC>atT		spermidine synthase	S-Adenosylmethionine(DB00118)|Spermine(DB00127)						131	117	121					1																	11119363		2203	4300	6503	SO:0001819	synonymous_variant	6723				spermidine biosynthetic process	cytosol	protein homodimerization activity|spermidine synthase activity	g.chr1:11119363G>A	BC033106	CCDS125.1	1p36-p22	2010-11-08			ENSG00000116649	ENSG00000116649	2.5.1.16		11296	protein-coding gene	gene with protein product		182891		SRML1		2344393	Standard	NM_003132		Approved	SPS1	uc001arz.1	P19623	OTTHUMG00000002119	ENST00000376957.2:c.207C>T	1.37:g.11119363G>A							p.I69I	NM_003132.2	NP_003123.2	P19623	SPEE_HUMAN	STAD - Stomach adenocarcinoma(5;0.228)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.14e-07)|COAD - Colon adenocarcinoma(227;7.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000294)|Kidney(185;0.000728)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|READ - Rectum adenocarcinoma(331;0.0487)|STAD - Stomach adenocarcinoma(313;0.192)	2	287	-	Ovarian(185;0.249)	Lung NSC(185;1.74e-05)|all_lung(284;2.05e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	69					B1AKP9|Q15511	Silent	SNP	ENST00000376957.2	37	c.207C>T	CCDS125.1																																																																																				0.612	SRM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006056.1	NM_003132		30	33	0	0	0	1	0	30	33					A	11119363	G	A	11119363	2	1	435	1	0	0	0	0	0	0	0	1	15150	1164	41	3		3	SRM	1	11119363	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	4271	11119363	238131258	61	20986											
MTOR	2475	broad.mit.edu	37	chr1	11190690	11190690	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctggcagtggtggtggcagTggcggccgtggtggcggcag	3	7	23	8	3	0	0	0	0	0	0	0	0	0	0	1	9	0	4	1	9	0	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:11190690T>C	ENST00000361445.4	-	39	5585	c.5509A>G	c.(5509-5511)Act>Gct	p.T1837A	MTOR_ENST00000495435.1_5'Flank|MTOR_ENST00000376838.1_Missense_Mutation_p.T42A	NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN	mechanistic target of rapamycin (serine/threonine kinase)	1837	FAT. {ECO:0000255|PROSITE- ProRule:PRU00534}.				cell growth (GO:0016049)|cellular response to hypoxia (GO:0071456)|cellular response to nutrient levels (GO:0031669)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|germ cell development (GO:0007281)|growth (GO:0040007)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|negative regulation of autophagy (GO:0010507)|negative regulation of cell size (GO:0045792)|negative regulation of macroautophagy (GO:0016242)|negative regulation of NFAT protein import into nucleus (GO:0051534)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|phosphatidylinositol-mediated signaling (GO:0048015)|phosphorylation (GO:0016310)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of gene expression (GO:0010628)|positive regulation of lamellipodium assembly (GO:0010592)|positive regulation of lipid biosynthetic process (GO:0046889)|positive regulation of myotube differentiation (GO:0010831)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein catabolic process (GO:0030163)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of carbohydrate utilization (GO:0043610)|regulation of fatty acid beta-oxidation (GO:0031998)|regulation of glycogen biosynthetic process (GO:0005979)|regulation of protein kinase activity (GO:0045859)|regulation of Rac GTPase activity (GO:0032314)|regulation of response to food (GO:0032095)|response to amino acid (GO:0043200)|response to nutrient (GO:0007584)|response to stress (GO:0006950)|ruffle organization (GO:0031529)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endomembrane system (GO:0012505)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|phosphatidylinositol 3-kinase complex (GO:0005942)|PML body (GO:0016605)|TORC1 complex (GO:0031931)|TORC2 complex (GO:0031932)	ATP binding (GO:0005524)|drug binding (GO:0008144)|kinase activity (GO:0016301)|phosphoprotein binding (GO:0051219)|protein serine/threonine kinase activity (GO:0004674)|ribosome binding (GO:0043022)|RNA polymerase III type 1 promoter DNA binding (GO:0001030)|RNA polymerase III type 2 promoter DNA binding (GO:0001031)|RNA polymerase III type 3 promoter DNA binding (GO:0001032)|TFIIIC-class transcription factor binding (GO:0001156)			breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149					Everolimus(DB01590)|Pimecrolimus(DB00337)|Sirolimus(DB00877)|Temsirolimus(DB06287)	gtggtggcagtggcggccgtg	0.632																																						ENST00000361445.4																			0				breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149						c.(5509-5511)Act>Gct		mechanistic target of rapamycin (serine/threonine kinase)							82	62	69					1																	11190690		2203	4300	6503	SO:0001583	missense	2475				cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient|T cell costimulation|TOR signaling cascade	endoplasmic reticulum membrane|Golgi membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex|PML body|TORC1 complex|TORC2 complex	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity	g.chr1:11190690T>C	L34075	CCDS127.1	1p36	2014-09-17	2009-05-29	2009-05-29	ENSG00000198793	ENSG00000198793			3942	protein-coding gene	gene with protein product	"FK506 binding protein 12-rapamycin associated protein 2", "rapamycin target protein", "FKBP12-rapamycin complex-associated protein 1", "FKBP-rapamycin associated protein", "rapamycin associated protein FRAP2", "dJ576K7.1 (FK506 binding protein 12-rapamycin associated protein 1)", "rapamycin and FKBP12 target 1", "mammalian target of rapamycin"	601231	"FK506 binding protein 12-rapamycin associated protein 1"	FRAP, FRAP2, FRAP1		8008069, 8660990	Standard	NM_004958		Approved	RAFT1, RAPT1, FLJ44809	uc001asd.3	P42345	OTTHUMG00000002001	ENST00000361445.4:c.5509A>G	1.37:g.11190690T>C	ENSP00000354558:p.Thr1837Ala					MTOR_ENST00000376838.1_Missense_Mutation_p.T42A	p.T1837A	NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN			39	5585	-			1837			FAT.		Q4LE76|Q5TER1|Q6LE87|Q96QG3|Q9Y4I3	Missense_Mutation	SNP	ENST00000361445.4	37	c.5509A>G	CCDS127.1	.	.	.	.	.	.	.	.	.	.	T	0.011	-1.693097	0.00731	.	.	ENSG00000198793	ENST00000361445;ENST00000376838	T;T	0.08984	3.27;3.03	4.01	2.85	0.33270	PIK-related kinase (1);PIK-related kinase, FAT (1);	0.346611	0.21193	N	0.078608	T	0.07773	0.0195	N	0.08118	0	0.09310	N	1	P	0.38767	0.646	P	0.58928	0.848	T	0.35871	-0.9771	10	0.02654	T	1	-9.8375	6.516	0.22248	0.2252:0.0:0.0:0.7748	.	1837	P42345	MTOR_HUMAN	A	1837;42	ENSP00000354558:T1837A;ENSP00000366034:T42A	ENSP00000354558:T1837A	T	-	1	0	MTOR	11113277	0.938000	0.31826	0.119000	0.21687	0.016000	0.09150	0.900000	0.28431	0.839000	0.34971	0.482000	0.46254	ACT		0.632	MTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005558.1	NM_004958		7	13	0	0	0	1	0	7	13					C	11190690	T	C	11190690	3	2	435	1	0	0	0	0	1	0	0	0	9954	1696	59	4	2220	4	MTOR	1	11190690	Missense_Mutation	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	71327	11190690	238059931	62	20987											
MTOR	2475	broad.mit.edu	37	chr1	11259693	11259693	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggccaactcgatgcttctgaTgagctcatcctgttgatctt	7	14	9	11	1	3	3	1	3	2	0	5	4	4	3	2	1	3	3	2	1	1	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:11259693T>G	ENST00000361445.4	-	27	4088	c.4012A>C	c.(4012-4014)Atc>Ctc	p.I1338L		NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN	mechanistic target of rapamycin (serine/threonine kinase)	1338					cell growth (GO:0016049)|cellular response to hypoxia (GO:0071456)|cellular response to nutrient levels (GO:0031669)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|germ cell development (GO:0007281)|growth (GO:0040007)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|negative regulation of autophagy (GO:0010507)|negative regulation of cell size (GO:0045792)|negative regulation of macroautophagy (GO:0016242)|negative regulation of NFAT protein import into nucleus (GO:0051534)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|phosphatidylinositol-mediated signaling (GO:0048015)|phosphorylation (GO:0016310)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of gene expression (GO:0010628)|positive regulation of lamellipodium assembly (GO:0010592)|positive regulation of lipid biosynthetic process (GO:0046889)|positive regulation of myotube differentiation (GO:0010831)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein catabolic process (GO:0030163)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of carbohydrate utilization (GO:0043610)|regulation of fatty acid beta-oxidation (GO:0031998)|regulation of glycogen biosynthetic process (GO:0005979)|regulation of protein kinase activity (GO:0045859)|regulation of Rac GTPase activity (GO:0032314)|regulation of response to food (GO:0032095)|response to amino acid (GO:0043200)|response to nutrient (GO:0007584)|response to stress (GO:0006950)|ruffle organization (GO:0031529)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endomembrane system (GO:0012505)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|phosphatidylinositol 3-kinase complex (GO:0005942)|PML body (GO:0016605)|TORC1 complex (GO:0031931)|TORC2 complex (GO:0031932)	ATP binding (GO:0005524)|drug binding (GO:0008144)|kinase activity (GO:0016301)|phosphoprotein binding (GO:0051219)|protein serine/threonine kinase activity (GO:0004674)|ribosome binding (GO:0043022)|RNA polymerase III type 1 promoter DNA binding (GO:0001030)|RNA polymerase III type 2 promoter DNA binding (GO:0001031)|RNA polymerase III type 3 promoter DNA binding (GO:0001032)|TFIIIC-class transcription factor binding (GO:0001156)			breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149					Everolimus(DB01590)|Pimecrolimus(DB00337)|Sirolimus(DB00877)|Temsirolimus(DB06287)	ATGCTTCTGATGAGCTCATCC	0.483																																						ENST00000361445.4																			0				breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149						c.(4012-4014)Atc>Ctc		mechanistic target of rapamycin (serine/threonine kinase)							162	133	143					1																	11259693		2203	4300	6503	SO:0001583	missense	2475				cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient|T cell costimulation|TOR signaling cascade	endoplasmic reticulum membrane|Golgi membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex|PML body|TORC1 complex|TORC2 complex	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity	g.chr1:11259693T>G	L34075	CCDS127.1	1p36	2014-09-17	2009-05-29	2009-05-29	ENSG00000198793	ENSG00000198793			3942	protein-coding gene	gene with protein product	"FK506 binding protein 12-rapamycin associated protein 2", "rapamycin target protein", "FKBP12-rapamycin complex-associated protein 1", "FKBP-rapamycin associated protein", "rapamycin associated protein FRAP2", "dJ576K7.1 (FK506 binding protein 12-rapamycin associated protein 1)", "rapamycin and FKBP12 target 1", "mammalian target of rapamycin"	601231	"FK506 binding protein 12-rapamycin associated protein 1"	FRAP, FRAP2, FRAP1		8008069, 8660990	Standard	NM_004958		Approved	RAFT1, RAPT1, FLJ44809	uc001asd.3	P42345	OTTHUMG00000002001	ENST00000361445.4:c.4012A>C	1.37:g.11259693T>G	ENSP00000354558:p.Ile1338Leu						p.I1338L	NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN			27	4088	-			1338					Q4LE76|Q5TER1|Q6LE87|Q96QG3|Q9Y4I3	Missense_Mutation	SNP	ENST00000361445.4	37	c.4012A>C	CCDS127.1	.	.	.	.	.	.	.	.	.	.	T	18.86	3.713088	0.68730	.	.	ENSG00000198793	ENST00000361445;ENST00000539766	T	0.63096	-0.02	5.97	5.97	0.96955	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.66076	0.2753	L	0.47016	1.485	0.80722	D	1	P	0.35745	0.518	P	0.44647	0.456	T	0.68187	-0.5475	10	0.72032	D	0.01	-24.624	16.4473	0.83942	0.0:0.0:0.0:1.0	.	1338	P42345	MTOR_HUMAN	L	1338	ENSP00000354558:I1338L	ENSP00000354558:I1338L	I	-	1	0	MTOR	11182280	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.665000	0.83852	2.281000	0.76405	0.533000	0.62120	ATC		0.483	MTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005558.1	NM_004958		29	30	0	0	0	1	0	29	30					G	11259693	T	G	11259693	3	3	435	1	0	0	0	0	1	0	0	0	9954	1464	51	5	3765	5	MTOR	1	11259693	Missense_Mutation	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	69003	11259693	237990928	63	20988											
MTOR	2475	broad.mit.edu	37	chr1	11269467	11269467	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttggccactcctaagcatccGatgctggtaaatcaaaggat	12	10	9	10	1	1	0	1	0	0	0	3	2	3	1	3	3	2	3	3	3	4	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:11269467G>A	ENST00000361445.4	-	25	3779	c.3703C>T	c.(3703-3705)Cgg>Tgg	p.R1235W		NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN	mechanistic target of rapamycin (serine/threonine kinase)	1235					cell growth (GO:0016049)|cellular response to hypoxia (GO:0071456)|cellular response to nutrient levels (GO:0031669)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|germ cell development (GO:0007281)|growth (GO:0040007)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|negative regulation of autophagy (GO:0010507)|negative regulation of cell size (GO:0045792)|negative regulation of macroautophagy (GO:0016242)|negative regulation of NFAT protein import into nucleus (GO:0051534)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|phosphatidylinositol-mediated signaling (GO:0048015)|phosphorylation (GO:0016310)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of gene expression (GO:0010628)|positive regulation of lamellipodium assembly (GO:0010592)|positive regulation of lipid biosynthetic process (GO:0046889)|positive regulation of myotube differentiation (GO:0010831)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein catabolic process (GO:0030163)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of carbohydrate utilization (GO:0043610)|regulation of fatty acid beta-oxidation (GO:0031998)|regulation of glycogen biosynthetic process (GO:0005979)|regulation of protein kinase activity (GO:0045859)|regulation of Rac GTPase activity (GO:0032314)|regulation of response to food (GO:0032095)|response to amino acid (GO:0043200)|response to nutrient (GO:0007584)|response to stress (GO:0006950)|ruffle organization (GO:0031529)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endomembrane system (GO:0012505)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|phosphatidylinositol 3-kinase complex (GO:0005942)|PML body (GO:0016605)|TORC1 complex (GO:0031931)|TORC2 complex (GO:0031932)	ATP binding (GO:0005524)|drug binding (GO:0008144)|kinase activity (GO:0016301)|phosphoprotein binding (GO:0051219)|protein serine/threonine kinase activity (GO:0004674)|ribosome binding (GO:0043022)|RNA polymerase III type 1 promoter DNA binding (GO:0001030)|RNA polymerase III type 2 promoter DNA binding (GO:0001031)|RNA polymerase III type 3 promoter DNA binding (GO:0001032)|TFIIIC-class transcription factor binding (GO:0001156)			breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149					Everolimus(DB01590)|Pimecrolimus(DB00337)|Sirolimus(DB00877)|Temsirolimus(DB06287)	CTAAGCATCCGATGCTGGTAA	0.473																																						ENST00000361445.4																			0				breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149						c.(3703-3705)Cgg>Tgg		mechanistic target of rapamycin (serine/threonine kinase)							259	247	251					1																	11269467		2203	4300	6503	SO:0001583	missense	2475				cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient|T cell costimulation|TOR signaling cascade	endoplasmic reticulum membrane|Golgi membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex|PML body|TORC1 complex|TORC2 complex	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity	g.chr1:11269467G>A	L34075	CCDS127.1	1p36	2014-09-17	2009-05-29	2009-05-29	ENSG00000198793	ENSG00000198793			3942	protein-coding gene	gene with protein product	"FK506 binding protein 12-rapamycin associated protein 2", "rapamycin target protein", "FKBP12-rapamycin complex-associated protein 1", "FKBP-rapamycin associated protein", "rapamycin associated protein FRAP2", "dJ576K7.1 (FK506 binding protein 12-rapamycin associated protein 1)", "rapamycin and FKBP12 target 1", "mammalian target of rapamycin"	601231	"FK506 binding protein 12-rapamycin associated protein 1"	FRAP, FRAP2, FRAP1		8008069, 8660990	Standard	NM_004958		Approved	RAFT1, RAPT1, FLJ44809	uc001asd.3	P42345	OTTHUMG00000002001	ENST00000361445.4:c.3703C>T	1.37:g.11269467G>A	ENSP00000354558:p.Arg1235Trp						p.R1235W	NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN			25	3779	-			1235					Q4LE76|Q5TER1|Q6LE87|Q96QG3|Q9Y4I3	Missense_Mutation	SNP	ENST00000361445.4	37	c.3703C>T	CCDS127.1	.	.	.	.	.	.	.	.	.	.	G	18.08	3.543540	0.65198	.	.	ENSG00000198793	ENST00000361445;ENST00000539766	T	0.65732	-0.17	5.78	5.78	0.91487	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.63943	0.2554	L	0.43152	1.355	0.80722	D	1	D	0.64830	0.994	P	0.50617	0.646	T	0.64795	-0.6323	10	0.51188	T	0.08	.	14.7955	0.69873	0.0:0.0:0.8558:0.1441	.	1235	P42345	MTOR_HUMAN	W	1235	ENSP00000354558:R1235W	ENSP00000354558:R1235W	R	-	1	2	MTOR	11192054	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.123000	0.71614	2.733000	0.93635	0.561000	0.74099	CGG		0.473	MTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005558.1	NM_004958		68	93	0	0	0	1	0	68	93					A	11269467	G	A	11269467	3	1	435	1	0	0	0	0	1	0	0	0	9954	1057	37	2	4082	2	MTOR	1	11269467	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	9774	11269467	237981154	64	20989											
UBIAD1	29914	broad.mit.edu	37	chr1	11345737	11345737	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtggctctgggagacctcaTcatcctcatcacttttggcc	6	12	9	14	1	5	1	4	0	1	1	6	2	6	1	3	3	0	1	3	3	0	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:11345737T>C	ENST00000376810.5	+	2	892	c.566T>C	c.(565-567)aTc>aCc	p.I189T	UBIAD1_ENST00000376804.2_Intron	NM_013319.2	NP_037451.1	Q9Y5Z9	UBIA1_HUMAN	UbiA prenyltransferase domain containing 1	189					menaquinone biosynthetic process (GO:0009234)|ubiquinone biosynthetic process (GO:0006744)|vitamin K biosynthetic process (GO:0042371)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|integral component of Golgi membrane (GO:0030173)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	antioxidant activity (GO:0016209)|prenyltransferase activity (GO:0004659)			endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|prostate(3)	12	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.000818)|all_lung(284;0.00105)|Colorectal(325;0.0062)|Breast(348;0.012)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.52e-06)|COAD - Colon adenocarcinoma(227;0.000254)|BRCA - Breast invasive adenocarcinoma(304;0.000299)|Kidney(185;0.000754)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00727)|READ - Rectum adenocarcinoma(331;0.0487)		GGAGACCTCATCATCCTCATC	0.562																																						ENST00000376810.5																			0				endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|prostate(3)	12						c.(565-567)aTc>aCc		UbiA prenyltransferase domain containing 1							124	103	110					1																	11345737		2203	4300	6503	SO:0001583	missense	29914				menaquinone biosynthetic process	endoplasmic reticulum membrane|integral to membrane|mitochondrion|nucleus	prenyltransferase activity	g.chr1:11345737T>C		CCDS129.1	1p36.22	2012-05-02			ENSG00000120942	ENSG00000120942			30791	protein-coding gene	gene with protein product	"transitional epithelia response protein"	611632	"Schnyder crystalline corneal dystrophy"	SCCD		20953171, 12497587, 11314041, 17668063, 17962451, 8894705	Standard	NM_013319		Approved	TERE1	uc001asg.3	Q9Y5Z9	OTTHUMG00000002075	ENST00000376810.5:c.566T>C	1.37:g.11345737T>C	ENSP00000366006:p.Ile189Thr					UBIAD1_ENST00000376804.2_Intron	p.I189T	NM_013319.2	NP_037451.1	Q9Y5Z9	UBIA1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.52e-06)|COAD - Colon adenocarcinoma(227;0.000254)|BRCA - Breast invasive adenocarcinoma(304;0.000299)|Kidney(185;0.000754)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00727)|READ - Rectum adenocarcinoma(331;0.0487)	2	892	+	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.000818)|all_lung(284;0.00105)|Colorectal(325;0.0062)|Breast(348;0.012)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731)	189					B3KQG3|Q53GX3|Q5THD4	Missense_Mutation	SNP	ENST00000376810.5	37	c.566T>C	CCDS129.1	.	.	.	.	.	.	.	.	.	.	T	11.05	1.524136	0.27299	.	.	ENSG00000120942	ENST00000376810	D	0.92752	-3.1	5.54	5.54	0.83059	.	0.116434	0.56097	D	0.000021	T	0.78698	0.4324	N	0.01188	-0.97	0.80722	D	1	B	0.02656	0.0	B	0.12156	0.007	T	0.74808	-0.3539	10	0.27785	T	0.31	0.0	13.4155	0.60966	0.0:0.0:0.0:1.0	.	189	Q9Y5Z9	UBIA1_HUMAN	T	189	ENSP00000366006:I189T	ENSP00000366006:I189T	I	+	2	0	UBIAD1	11268324	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.665000	0.83852	2.094000	0.63399	0.402000	0.26972	ATC		0.562	UBIAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005773.1	NM_013319		10	18	0	0	0	1	0	10	18					C	11345737	T	C	11345737	3	2	435	1	0	0	0	0	1	0	0	0	16882	1435	50	4	572	4	UBIAD1	1	11345737	Missense_Mutation	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	76270	11345737	237904884	65	20990											
FBXO44	93611	broad.mit.edu	37	chr1	11721246	11721246	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacatctggtttcagcacggCggcgtggacactcattactg	8	11	11	11	3	3	0	2	0	1	0	3	1	3	1	0	4	3	2	0	4	2	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:11721246C>T	ENST00000251547.5	+	6	766	c.684C>T	c.(682-684)ggC>ggT	p.G228G	FBXO44_ENST00000376770.1_Silent_p.G228G|FBXO44_ENST00000251546.4_Missense_Mutation_p.R187W|FBXO44_ENST00000376762.4_Missense_Mutation_p.R187W|FBXO6_ENST00000376753.4_5'Flank|FBXO44_ENST00000376760.1_Missense_Mutation_p.R187W|FBXO44_ENST00000376768.1_Missense_Mutation_p.R219W	NM_033182.5	NP_149438.2	Q9H4M3	FBX44_HUMAN	F-box protein 44	228	FBA. {ECO:0000255|PROSITE- ProRule:PRU00482}.					SCF ubiquitin ligase complex (GO:0019005)				kidney(1)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|prostate(1)	8	Ovarian(185;0.249)	Lung NSC(185;4.15e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.41e-06)|COAD - Colon adenocarcinoma(227;0.000255)|BRCA - Breast invasive adenocarcinoma(304;0.0003)|Kidney(185;0.000758)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00727)|READ - Rectum adenocarcinoma(331;0.0649)		TTCAGCACGGCGGCGTGGACA	0.662																																						ENST00000251546.4																			0				kidney(1)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|prostate(1)	8						c.(559-561)Cgg>Tgg		F-box protein 44							93	91	92					1																	11721246		2203	4300	6503	SO:0001819	synonymous_variant	93611				protein catabolic process	SCF ubiquitin ligase complex	protein binding	g.chr1:11721246C>T	AY040878	CCDS131.1, CCDS132.1	1p36.21	2008-03-26			ENSG00000132879	ENSG00000132879		"F-boxes /  "other""	24847	protein-coding gene	gene with protein product		609111				12383498	Standard	XM_005263535		Approved	FBX30, FBG3, MGC14140, Fbxo6a, Fbx44	uc001asm.3	Q9H4M3	OTTHUMG00000002071	ENST00000251547.5:c.684C>T	1.37:g.11721246C>T						FBXO44_ENST00000376768.1_Missense_Mutation_p.R219W|FBXO44_ENST00000376760.1_Missense_Mutation_p.R187W|FBXO44_ENST00000251547.5_Silent_p.G228G|FBXO44_ENST00000376770.1_Silent_p.G228G|FBXO44_ENST00000376762.4_Missense_Mutation_p.R187W	p.R187W	NM_183412.2	NP_904319.1	Q9H4M3	FBX44_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.41e-06)|COAD - Colon adenocarcinoma(227;0.000255)|BRCA - Breast invasive adenocarcinoma(304;0.0003)|Kidney(185;0.000758)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00727)|READ - Rectum adenocarcinoma(331;0.0649)	5	796	+	Ovarian(185;0.249)	Lung NSC(185;4.15e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	0			FBA.		B3KNZ2|B7Z743|Q5TGX2|Q5TGX4|Q5TGX5|Q68DJ9|Q8WWY2	Missense_Mutation	SNP	ENST00000251547.5	37	c.559C>T	CCDS132.1	.	.	.	.	.	.	.	.	.	.	C	20.0	3.931002	0.73327	.	.	ENSG00000132879	ENST00000251546;ENST00000376768;ENST00000376762;ENST00000376760	T;T;T;T	0.44881	0.91;1.04;0.91;0.91	4.82	-0.109	0.13584	.	0.222888	0.37669	N	0.001997	T	0.25568	0.0622	.	.	.	0.80722	D	1	B;B	0.09022	0.002;0.0	B;B	0.04013	0.001;0.001	T	0.13602	-1.0503	9	0.87932	D	0	-25.2829	0.6968	0.00900	0.4039:0.2494:0.1343:0.2124	.	219;187	B7Z1P2;Q9H4M3-2	.;.	W	187;219;187;187	ENSP00000251546:R187W;ENSP00000365959:R219W;ENSP00000365953:R187W;ENSP00000365951:R187W	ENSP00000251546:R187W	R	+	1	2	FBXO44	11643833	0.093000	0.21703	0.999000	0.59377	0.997000	0.91878	-0.980000	0.03770	0.065000	0.16485	0.561000	0.74099	CGG		0.662	FBXO44-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005761.1	NM_183412		19	32	0	0	0	1	0	19	32					T	11721246	C	T	11721246	2	4	435	1	0	0	0	0	0	0	0	1	5753	759	27	1		1	FBXO44	1	11721246	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	375509	11721246	237529375	66	20991											
FBXO6	26270	broad.mit.edu	37	chr1	11733379	11733379	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgcacctaccaactcaaagtGcagctggcctcggctgacta	10	8	9	14	1	1	1	1	1	0	0	2	1	1	1	3	2	5	4	3	2	4	2	rs150995826	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:11733379G>C	ENST00000376753.4	+	5	690	c.555G>C	c.(553-555)gtG>gtC	p.V185V		NM_018438.5	NP_060908.1	Q9NRD1	FBX6_HUMAN	F-box protein 6	185	FBA. {ECO:0000255|PROSITE- ProRule:PRU00482}.				DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|glycoprotein catabolic process (GO:0006516)|proteolysis (GO:0006508)|response to unfolded protein (GO:0006986)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)	cytoplasm (GO:0005737)|SCF ubiquitin ligase complex (GO:0019005)	carbohydrate binding (GO:0030246)|glycoprotein binding (GO:0001948)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|large_intestine(1)|lung(1)|ovary(1)|upper_aerodigestive_tract(2)	6	Ovarian(185;0.249)	Lung NSC(185;4.15e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.25e-06)|COAD - Colon adenocarcinoma(227;0.000251)|BRCA - Breast invasive adenocarcinoma(304;0.000297)|Kidney(185;0.000747)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00727)|READ - Rectum adenocarcinoma(331;0.0649)		AACTCAAAGTGCAGCTGGCCT	0.622																																					NSCLC(54;506 1562 46490 51389)	ENST00000376753.4																			0				breast(1)|large_intestine(1)|lung(1)|ovary(1)|upper_aerodigestive_tract(2)	6						c.(553-555)gtG>gtC		F-box protein 6							71	61	64					1																	11733379		2203	4300	6503	SO:0001819	synonymous_variant	26270				DNA damage checkpoint|DNA repair|ER-associated protein catabolic process|response to unfolded protein|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	cytoplasm|SCF ubiquitin ligase complex	glycoprotein binding	g.chr1:11733379G>C	AF129536	CCDS133.1	1p36.22	2008-05-14	2004-06-15		ENSG00000116663	ENSG00000116663		"F-boxes /  "other""	13585	protein-coding gene	gene with protein product		605647	"F-box only protein 6"			10531035, 10945468	Standard	NM_018438		Approved	FBX6, FBG2, FBS2, Fbx6b	uc001aso.3	Q9NRD1	OTTHUMG00000002229	ENST00000376753.4:c.555G>C	1.37:g.11733379G>C							p.V185V	NM_018438.5	NP_060908.1	Q9NRD1	FBX6_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.25e-06)|COAD - Colon adenocarcinoma(227;0.000251)|BRCA - Breast invasive adenocarcinoma(304;0.000297)|Kidney(185;0.000747)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00727)|READ - Rectum adenocarcinoma(331;0.0649)	5	690	+	Ovarian(185;0.249)	Lung NSC(185;4.15e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	185			FBA.		B1AK42|B2RC88|Q9UKT3	Silent	SNP	ENST00000376753.4	37	c.555G>C	CCDS133.1	.	.	.	.	.	.	.	.	.	.	G	0.094	-1.162402	0.01673	.	.	ENSG00000116663	ENST00000449067	.	.	.	5.69	-11.4	0.00090	.	.	.	.	.	T	0.45175	0.1329	.	.	.	0.46701	D	0.999166	.	.	.	.	.	.	T	0.60875	-0.7176	4	.	.	.	.	8.6486	0.34020	0.111:0.1699:0.6389:0.0802	.	.	.	.	S	141	.	.	C	+	2	0	FBXO6	11655966	0.009000	0.17119	0.003000	0.11579	0.003000	0.03518	-0.653000	0.05360	-3.514000	0.00149	-0.379000	0.06801	TGC		0.622	FBXO6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006332.1	NM_018438		4	17	0	0	0	1	0	4	17					C	11733379	G	C	11733379	2	2	435	1	0	0	0	0	0	0	0	1	5759	1306	46	5		5	FBXO6	1	11733379	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	12133	11733379	237517242	67	20992											
FBXO6	26270	broad.mit.edu	37	chr1	11733705	11733705	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctcagactacccccggggtGtccgctacatcctcttccag	6	10	8	17	2	2	1	1	0	2	1	6	1	5	1	5	2	2	1	5	2	2	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:11733705G>A	ENST00000376753.4	+	6	814	c.679G>A	c.(679-681)Gtc>Atc	p.V227I		NM_018438.5	NP_060908.1	Q9NRD1	FBX6_HUMAN	F-box protein 6	227	FBA. {ECO:0000255|PROSITE- ProRule:PRU00482}.				DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|glycoprotein catabolic process (GO:0006516)|proteolysis (GO:0006508)|response to unfolded protein (GO:0006986)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)	cytoplasm (GO:0005737)|SCF ubiquitin ligase complex (GO:0019005)	carbohydrate binding (GO:0030246)|glycoprotein binding (GO:0001948)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|large_intestine(1)|lung(1)|ovary(1)|upper_aerodigestive_tract(2)	6	Ovarian(185;0.249)	Lung NSC(185;4.15e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.25e-06)|COAD - Colon adenocarcinoma(227;0.000251)|BRCA - Breast invasive adenocarcinoma(304;0.000297)|Kidney(185;0.000747)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00727)|READ - Rectum adenocarcinoma(331;0.0649)		CCCCCGGGGTGTCCGCTACAT	0.637																																					NSCLC(54;506 1562 46490 51389)	ENST00000376753.4																			0				breast(1)|large_intestine(1)|lung(1)|ovary(1)|upper_aerodigestive_tract(2)	6						c.(679-681)Gtc>Atc		F-box protein 6							81	79	80					1																	11733705		2203	4300	6503	SO:0001583	missense	26270				DNA damage checkpoint|DNA repair|ER-associated protein catabolic process|response to unfolded protein|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	cytoplasm|SCF ubiquitin ligase complex	glycoprotein binding	g.chr1:11733705G>A	AF129536	CCDS133.1	1p36.22	2008-05-14	2004-06-15		ENSG00000116663	ENSG00000116663		"F-boxes /  "other""	13585	protein-coding gene	gene with protein product		605647	"F-box only protein 6"			10531035, 10945468	Standard	NM_018438		Approved	FBX6, FBG2, FBS2, Fbx6b	uc001aso.3	Q9NRD1	OTTHUMG00000002229	ENST00000376753.4:c.679G>A	1.37:g.11733705G>A	ENSP00000365944:p.Val227Ile						p.V227I	NM_018438.5	NP_060908.1	Q9NRD1	FBX6_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.25e-06)|COAD - Colon adenocarcinoma(227;0.000251)|BRCA - Breast invasive adenocarcinoma(304;0.000297)|Kidney(185;0.000747)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00727)|READ - Rectum adenocarcinoma(331;0.0649)	6	814	+	Ovarian(185;0.249)	Lung NSC(185;4.15e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	227			FBA.		B1AK42|B2RC88|Q9UKT3	Missense_Mutation	SNP	ENST00000376753.4	37	c.679G>A	CCDS133.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.137919	0.77775	.	.	ENSG00000116663	ENST00000376753	T	0.46451	0.87	5.72	5.72	0.89469	Galactose-binding domain-like (1);F-box associated (FBA) domain (2);	0.053834	0.64402	D	0.000001	T	0.63343	0.2503	M	0.78801	2.425	0.41753	D	0.989674	D	0.58970	0.984	P	0.61592	0.891	T	0.63866	-0.6540	10	0.45353	T	0.12	.	16.5806	0.84714	0.0:0.0:1.0:0.0	.	227	Q9NRD1	FBX6_HUMAN	I	227	ENSP00000365944:V227I	ENSP00000365944:V227I	V	+	1	0	FBXO6	11656292	1.000000	0.71417	0.965000	0.40720	0.474000	0.32979	5.386000	0.66238	2.703000	0.92315	0.561000	0.74099	GTC		0.637	FBXO6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006332.1	NM_018438		5	54	0	0	0	1	0	5	54					A	11733705	G	A	11733705	3	1	435	1	0	0	0	0	1	0	0	0	5759	1377	48	3	697	3	FBXO6	1	11733705	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	326	11733705	237516916	68	20993											
CLCN6	1185	broad.mit.edu	37	chr1	11898394	11898394	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tctgggttggaattgcagagCgccagccagccgcgcctctc	6	8	13	14	3	2	1	0	0	2	1	3	2	2	2	4	2	4	2	4	2	1	2	rs531440933	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:11898394C>T	ENST00000346436.6	+	21	2350	c.2298C>T	c.(2296-2298)agC>agT	p.S766S	CLCN6_ENST00000376487.3_Silent_p.S744S|CLCN6_ENST00000312413.6_3'UTR|CLCN6_ENST00000376496.3_Silent_p.S766S|NPPA-AS1_ENST00000446542.1_RNA	NM_001286.3	NP_001277	P51797	CLCN6_HUMAN	chloride channel, voltage-sensitive 6	766					cell volume homeostasis (GO:0006884)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|regulation of anion transport (GO:0044070)|response to mechanical stimulus (GO:0009612)|signal transduction (GO:0007165)|transmembrane transport (GO:0055085)	endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	antiporter activity (GO:0015297)|ATP binding (GO:0005524)|voltage-gated chloride channel activity (GO:0005247)			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(4)	36	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000816)|KIRC - Kidney renal clear cell carcinoma(229;0.00268)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)		AATTGCAGAGCGCCAGCCAGC	0.642											OREG0013104	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C|||	2	0.000399361	0	0	5008	,	,		16793	0.002		0	False		,,,				2504	0					ENST00000346436.6																			0				cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(4)	36						c.(2296-2298)agC>agT		chloride channel, voltage-sensitive 6							47	47	47					1																	11898394		2202	4300	6502	SO:0001819	synonymous_variant	1185				cell volume homeostasis|signal transduction	endosome membrane|integral to membrane	antiporter activity|ATP binding|voltage-gated chloride channel activity	g.chr1:11898394C>T	X83378	CCDS138.1, CCDS57972.1	1p36	2012-09-26	2012-02-23		ENSG00000011021	ENSG00000011021		"Ion channels / Chloride channels : Voltage-sensitive"	2024	protein-coding gene	gene with protein product		602726	"chloride channel 6"			8543009	Standard	NM_001286		Approved	CLC-6, KIAA0046, ClC-6	uc001ate.5	P51797	OTTHUMG00000002299	ENST00000346436.6:c.2298C>T	1.37:g.11898394C>T			OREG0013104	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	675	CLCN6_ENST00000376487.3_Silent_p.S744S|CLCN6_ENST00000376496.3_Silent_p.S766S|CLCN6_ENST00000312413.6_3'UTR	p.S766S	NM_001286.3	NP_001277.1	P51797	CLCN6_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000816)|KIRC - Kidney renal clear cell carcinoma(229;0.00268)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)	21	2350	+	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)	766					A8K1T4|B4DGT7|F8W9R3|O60818|O60819|O60820|O60821|P78520|P78521|Q17R81|Q5SNW2|Q5SNW3|Q5SNX1|Q5SNX2|Q5SNX3|Q99427|Q99428|Q99429	Silent	SNP	ENST00000346436.6	37	c.2298C>T	CCDS138.1																																																																																				0.642	CLCN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006639.2	NM_001286		8	17	0	0	0	1	0	8	17					T	11898394	C	T	11898394	2	4	435	1	0	0	0	0	0	0	0	1	3467	767	27	1		1	CLCN6	1	11898394	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	164689	11898394	237352227	69	20994											
PLOD1	5351	broad.mit.edu	37	chr1	12017931	12017931	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacctgggcaactacatcccGcgcttctggaccttcgaaac	9	9	8	15	3	1	0	0	0	1	0	3	2	2	1	3	2	4	2	3	2	4	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:12017931G>A	ENST00000196061.4	+	8	801	c.774G>A	c.(772-774)ccG>ccA	p.P258P	PLOD1_ENST00000376369.3_Silent_p.P305P|PLOD1_ENST00000485046.1_3'UTR	NM_000302.3	NP_000293.2	Q02809	PLOD1_HUMAN	procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1	258					cellular protein modification process (GO:0006464)|epidermis development (GO:0008544)|extracellular matrix organization (GO:0030198)|hydroxylysine biosynthetic process (GO:0046947)|oxidation-reduction process (GO:0055114)|response to hypoxia (GO:0001666)	endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|procollagen-lysine 5-dioxygenase activity (GO:0008475)|protein homodimerization activity (GO:0042803)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	29	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.06e-06)|COAD - Colon adenocarcinoma(227;0.000273)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000809)|KIRC - Kidney renal clear cell carcinoma(229;0.00267)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)	Succinic acid(DB00139)|Vitamin C(DB00126)	ACTACATCCCGCGCTTCTGGA	0.627																																						ENST00000196061.4																			0				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	29						c.(772-774)ccG>ccA		procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1	Minoxidil(DB00350)|Succinic acid(DB00139)|Vitamin C(DB00126)						131	122	125					1																	12017931		2203	4300	6503	SO:0001819	synonymous_variant	5351				epidermis development|hydroxylysine biosynthetic process|protein modification process|response to hypoxia	rough endoplasmic reticulum membrane	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein homodimerization activity	g.chr1:12017931G>A	BC016657	CCDS142.1	1p36.22	2011-08-25	2011-08-24	2004-12-14	ENSG00000083444	ENSG00000083444	1.14.11.4		9081	protein-coding gene	gene with protein product	"lysyl hydroxlase 1"	153454	"procollagen-lysine 1, 2-oxoglutarate 5-dioxygenase (lysine hydroxylase, Ehlers-Danlos syndrome type VI)"	LLH, PLOD		1577494	Standard	NM_000302		Approved	LH1	uc001atm.3	Q02809	OTTHUMG00000002393	ENST00000196061.4:c.774G>A	1.37:g.12017931G>A						PLOD1_ENST00000485046.1_3'UTR|PLOD1_ENST00000376369.3_Silent_p.P305P	p.P258P	NM_000302.3	NP_000293.2	Q02809	PLOD1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.06e-06)|COAD - Colon adenocarcinoma(227;0.000273)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000809)|KIRC - Kidney renal clear cell carcinoma(229;0.00267)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)	8	801	+	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)	258					B4DR87|Q96AV9|Q9H132	Silent	SNP	ENST00000196061.4	37	c.774G>A	CCDS142.1																																																																																				0.627	PLOD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000006865.1	NM_000302		41	66	0	0	0	1	0	41	66					A	12017931	G	A	12017931	2	1	435	1	0	0	0	0	0	0	0	1	12101	1074	38	1		1	PLOD1	1	12017931	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	119537	12017931	237232690	70	20995											
PLOD1	5351	broad.mit.edu	37	chr1	12020809	12020809	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gcggatggcgaatgcagatgCcaggaacatgggcgcgtgag	10	5	18	8	4	0	2	0	1	0	1	0	5	0	4	1	4	3	1	1	4	2	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:12020809C>G	ENST00000196061.4	+	10	1109	c.1082C>G	c.(1081-1083)gCc>gGc	p.A361G	PLOD1_ENST00000376369.3_Missense_Mutation_p.A408G	NM_000302.3	NP_000293.2	Q02809	PLOD1_HUMAN	procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1	361					cellular protein modification process (GO:0006464)|epidermis development (GO:0008544)|extracellular matrix organization (GO:0030198)|hydroxylysine biosynthetic process (GO:0046947)|oxidation-reduction process (GO:0055114)|response to hypoxia (GO:0001666)	endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|procollagen-lysine 5-dioxygenase activity (GO:0008475)|protein homodimerization activity (GO:0042803)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	29	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.06e-06)|COAD - Colon adenocarcinoma(227;0.000273)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000809)|KIRC - Kidney renal clear cell carcinoma(229;0.00267)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)	Succinic acid(DB00139)|Vitamin C(DB00126)	AATGCAGATGCCAGGAACATG	0.612																																						ENST00000196061.4																			0				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	29						c.(1081-1083)gCc>gGc		procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1	Minoxidil(DB00350)|Succinic acid(DB00139)|Vitamin C(DB00126)						100	91	94					1																	12020809		2203	4300	6503	SO:0001583	missense	5351				epidermis development|hydroxylysine biosynthetic process|protein modification process|response to hypoxia	rough endoplasmic reticulum membrane	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein homodimerization activity	g.chr1:12020809C>G	BC016657	CCDS142.1	1p36.22	2011-08-25	2011-08-24	2004-12-14	ENSG00000083444	ENSG00000083444	1.14.11.4		9081	protein-coding gene	gene with protein product	"lysyl hydroxlase 1"	153454	"procollagen-lysine 1, 2-oxoglutarate 5-dioxygenase (lysine hydroxylase, Ehlers-Danlos syndrome type VI)"	LLH, PLOD		1577494	Standard	NM_000302		Approved	LH1	uc001atm.3	Q02809	OTTHUMG00000002393	ENST00000196061.4:c.1082C>G	1.37:g.12020809C>G	ENSP00000196061:p.Ala361Gly					PLOD1_ENST00000376369.3_Missense_Mutation_p.A408G	p.A361G	NM_000302.3	NP_000293.2	Q02809	PLOD1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.06e-06)|COAD - Colon adenocarcinoma(227;0.000273)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000809)|KIRC - Kidney renal clear cell carcinoma(229;0.00267)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)	10	1109	+	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)	361					B4DR87|Q96AV9|Q9H132	Missense_Mutation	SNP	ENST00000196061.4	37	c.1082C>G	CCDS142.1	.	.	.	.	.	.	.	.	.	.	C	17.27	3.346634	0.61073	.	.	ENSG00000083444	ENST00000376369;ENST00000196061	D;D	0.87887	-2.31;-2.31	5.61	5.61	0.85477	.	0.111803	0.64402	D	0.000009	D	0.84813	0.5555	L	0.52011	1.625	0.58432	D	0.999995	P;P	0.42827	0.791;0.78	B;B	0.39904	0.313;0.192	D	0.84958	0.0875	10	0.41790	T	0.15	.	17.1896	0.86875	0.0:1.0:0.0:0.0	.	408;361	B4DR87;Q02809	.;PLOD1_HUMAN	G	408;361	ENSP00000365548:A408G;ENSP00000196061:A361G	ENSP00000196061:A361G	A	+	2	0	PLOD1	11943396	1.000000	0.71417	0.998000	0.56505	0.693000	0.40251	6.855000	0.75445	2.659000	0.90383	0.650000	0.86243	GCC		0.612	PLOD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000006865.1	NM_000302		11	23	0	0	0	1	0	11	23					G	12020809	C	G	12020809	3	3	435	1	0	0	0	0	1	0	0	0	12101	739	26	5	1120	5	PLOD1	1	12020809	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	2878	12020809	237229812	71	20996											
MFN2	9927	broad.mit.edu	37	chr1	12049245	12049245	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aatgtccctgctcttctctcGatgcaactctatcgtcacag	8	13	6	14	2	4	0	1	0	3	0	8	1	5	0	1	0	3	2	1	0	3	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:12049245G>A	ENST00000235329.5	+	3	342	c.20G>A	c.(19-21)cGa>cAa	p.R7Q	MFN2_ENST00000497302.1_3'UTR|MFN2_ENST00000444836.1_Missense_Mutation_p.R7Q	NM_014874.3	NP_055689.1	O95140	MFN2_HUMAN	mitofusin 2	7					apoptotic process (GO:0006915)|autophagy (GO:0006914)|blastocyst formation (GO:0001825)|blood coagulation (GO:0007596)|camera-type eye morphogenesis (GO:0048593)|mitochondrial fusion (GO:0008053)|mitochondrial membrane organization (GO:0007006)|mitochondrion localization (GO:0051646)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of smooth muscle cell proliferation (GO:0048662)|protein localization to pre-autophagosomal structure (GO:0034497)|protein targeting to mitochondrion (GO:0006626)|response to unfolded protein (GO:0006986)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|intrinsic component of mitochondrial outer membrane (GO:0031306)|microtubule cytoskeleton (GO:0015630)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|ubiquitin protein ligase binding (GO:0031625)	p.R7L(1)		endometrium(4)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(2)	20	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;7.25e-06)|COAD - Colon adenocarcinoma(227;0.000302)|BRCA - Breast invasive adenocarcinoma(304;0.000329)|Kidney(185;0.000896)|KIRC - Kidney renal clear cell carcinoma(229;0.00274)|STAD - Stomach adenocarcinoma(313;0.00773)|READ - Rectum adenocarcinoma(331;0.0656)		CTCTTCTCTCGATGCAACTCT	0.493																																						ENST00000235329.5																			1	Substitution - Missense(1)	p.R7L(1)	endometrium(1)	endometrium(4)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(2)	20						c.(19-21)cGa>cAa		mitofusin 2							165	152	157					1																	12049245		2203	4300	6503	SO:0001583	missense	9927				blood coagulation|mitochondrial fusion|mitochondrial membrane organization|mitochondrion localization|negative regulation of Ras protein signal transduction|negative regulation of smooth muscle cell proliferation|protein targeting to mitochondrion	cytosol|integral to membrane|intrinsic to mitochondrial outer membrane	GTP binding|GTPase activity|ubiquitin protein ligase binding	g.chr1:12049245G>A	AF036536	CCDS30587.1	1p36.22	2014-09-17			ENSG00000116688	ENSG00000116688			16877	protein-coding gene	gene with protein product		608507				12499352, 11181170	Standard	NM_014874		Approved	CPRP1, KIAA0214, MARF, CMT2A2	uc009vni.3	O95140	OTTHUMG00000002392	ENST00000235329.5:c.20G>A	1.37:g.12049245G>A	ENSP00000235329:p.Arg7Gln					MFN2_ENST00000444836.1_Missense_Mutation_p.R7Q|MFN2_ENST00000497302.1_3'UTR	p.R7Q	NM_014874.3	NP_055689.1	O95140	MFN2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;7.25e-06)|COAD - Colon adenocarcinoma(227;0.000302)|BRCA - Breast invasive adenocarcinoma(304;0.000329)|Kidney(185;0.000896)|KIRC - Kidney renal clear cell carcinoma(229;0.00274)|STAD - Stomach adenocarcinoma(313;0.00773)|READ - Rectum adenocarcinoma(331;0.0656)	3	342	+	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)	7					A8K1B3|O95572|Q5JXC3|Q5JXC4|Q9H131|Q9NSX8	Missense_Mutation	SNP	ENST00000235329.5	37	c.20G>A	CCDS30587.1	.	.	.	.	.	.	.	.	.	.	G	18.28	3.589379	0.66105	.	.	ENSG00000116688	ENST00000444836;ENST00000235329;ENST00000412236	D;D;D	0.99329	-5.75;-5.75;-3.59	5.88	2.44	0.29823	.	0.131519	0.52532	D	0.000078	D	0.97272	0.9108	L	0.49350	1.555	0.51767	D	0.999932	B	0.32128	0.357	B	0.21151	0.033	D	0.95845	0.8869	10	0.62326	D	0.03	-0.1655	11.2736	0.49153	0.0739:0.2408:0.6853:0.0	.	7	O95140	MFN2_HUMAN	Q	7	ENSP00000416338:R7Q;ENSP00000235329:R7Q;ENSP00000412023:R7Q	ENSP00000235329:R7Q	R	+	2	0	MFN2	11971832	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	5.283000	0.65621	0.767000	0.33267	-0.175000	0.13238	CGA		0.493	MFN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006859.2	NM_014874		46	37	0	0	0	1	0	46	37					A	12049245	G	A	12049245	3	1	435	1	0	0	0	0	1	0	0	0	9524	1058	37	2	22	2	MFN2	1	12049245	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	28436	12049245	237201376	72	20997											
TNFRSF8	943	broad.mit.edu	37	chr1	12175745	12175745	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ctcccgtgcccgctgtgtccCctacccaatctgtgcagcag	5	9	9	18	2	1	0	0	0	1	0	3	0	3	0	5	0	4	3	5	0	2	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:12175745C>A	ENST00000263932.2	+	8	1127	c.905C>A	c.(904-906)cCc>cAc	p.P302H	TNFRSF8_ENST00000417814.2_Missense_Mutation_p.P191H	NM_001243.3|NM_001281430.1	NP_001234.2|NP_001268359.1	P28908	TNR8_HUMAN	tumor necrosis factor receptor superfamily, member 8	302					cellular response to mechanical stimulus (GO:0071260)|negative regulation of cell proliferation (GO:0008285)|positive regulation of apoptotic process (GO:0043065)|positive regulation of TRAIL biosynthetic process (GO:0045556)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	27	Ovarian(185;0.249)	Lung NSC(185;8.71e-05)|all_lung(284;9.89e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649)	Brentuximab vedotin(DB08870)	CGCTGTGTCCCCTACCCAATC	0.617																																						ENST00000263932.2																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	27						c.(904-906)cCc>cAc		tumor necrosis factor receptor superfamily, member 8							127	94	106					1																	12175745		2203	4300	6503	SO:0001583	missense	0				cellular response to mechanical stimulus|negative regulation of cell proliferation|positive regulation of apoptosis|positive regulation of TRAIL biosynthetic process|positive regulation of tumor necrosis factor biosynthetic process	cytoplasm|integral to membrane|plasma membrane		g.chr1:12175745C>A	M83554	CCDS144.1, CCDS59989.1	1p36	2008-02-05			ENSG00000120949	ENSG00000120949		"Tumor necrosis factor receptor superfamily", "CD molecules"	11923	protein-coding gene	gene with protein product		153243		CD30, D1S166E		1330892, 1310894	Standard	XM_006711049		Approved	KI-1	uc001atq.3	P28908	OTTHUMG00000001827	ENST00000263932.2:c.905C>A	1.37:g.12175745C>A	ENSP00000263932:p.Pro302His					TNFRSF8_ENST00000417814.2_Missense_Mutation_p.P191H	p.P302H	NM_001243.3	NP_001234.2	P28908	TNR8_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649)	8	1127	+	Ovarian(185;0.249)	Lung NSC(185;8.71e-05)|all_lung(284;9.89e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)	302					B1AN79|B9EGD9|D3YTD8|Q6P4D9	Missense_Mutation	SNP	ENST00000263932.2	37	c.905C>A	CCDS144.1	.	.	.	.	.	.	.	.	.	.	C	15.12	2.738183	0.49045	.	.	ENSG00000120949	ENST00000263932;ENST00000417814	T;T	0.74315	-0.83;-0.83	3.72	-2.5	0.06384	.	.	.	.	.	T	0.63674	0.2531	L	0.39898	1.24	0.09310	N	1	D;P	0.60575	0.988;0.939	P;P	0.48873	0.533;0.593	T	0.56312	-0.8000	9	0.62326	D	0.03	-0.5834	1.1447	0.01772	0.166:0.2947:0.3262:0.2131	.	191;302	D3YTD8;P28908	.;TNR8_HUMAN	H	302;191	ENSP00000263932:P302H;ENSP00000390650:P191H	ENSP00000263932:P302H	P	+	2	0	TNFRSF8	12098332	0.000000	0.05858	0.000000	0.03702	0.391000	0.30476	-0.378000	0.07446	-0.228000	0.09869	0.453000	0.30009	CCC		0.617	TNFRSF8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005130.1			11	32	1	0	3.86212e-05	1	3.97146e-05	11	32					A	12175745	C	A	12175745	3	1	435	1	0	0	0	0	1	0	0	0	16296	623	22	5	935	5	TNFRSF8	1	12175745	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	126500	12175745	237074876	73	20998											
VPS13D	55187	broad.mit.edu	37	chr1	12337557	12337557	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aagtttttgaaggagttgacGttatccatggatgaactgga	12	13	12	4	1	0	3	0	3	0	0	1	6	1	6	1	3	1	3	1	3	4	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:12337557G>A	ENST00000358136.3	+	19	4042	c.3912G>A	c.(3910-3912)acG>acA	p.T1304T	VPS13D_ENST00000356315.4_Silent_p.T1304T	NM_015378.2	NP_056193.2			vacuolar protein sorting 13 homolog D (S. cerevisiae)											NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		AGGAGTTGACGTTATCCATGG	0.423																																						ENST00000358136.3																			0				NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130						c.(3910-3912)acG>acA		vacuolar protein sorting 13 homolog D (S. cerevisiae)							89	91	90					1																	12337557		2203	4300	6503	SO:0001819	synonymous_variant	55187				protein localization			g.chr1:12337557G>A	AJ608774	CCDS30588.1, CCDS30589.1	1p36.21	2008-02-05	2006-04-04		ENSG00000048707	ENSG00000048707			23595	protein-coding gene	gene with protein product		608877	"vacuolar protein sorting 13D (yeast)"				Standard	NM_015378		Approved	FLJ10619, KIAA0453	uc001atv.3	Q5THJ4	OTTHUMG00000013155	ENST00000358136.3:c.3912G>A	1.37:g.12337557G>A						VPS13D_ENST00000356315.4_Silent_p.T1304T	p.T1304T	NM_015378.2	NP_056193.2	Q5THJ4	VP13D_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)	19	4042	+	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)	1304						Silent	SNP	ENST00000358136.3	37	c.3912G>A	CCDS30588.1	.	.	.	.	.	.	.	.	.	.	G	2.478	-0.320329	0.05386	.	.	ENSG00000048707	ENST00000011700	.	.	.	5.91	-6.9	0.01655	.	.	.	.	.	T	0.35828	0.0945	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.38067	-0.9678	4	.	.	.	.	2.4726	0.04567	0.2588:0.1731:0.3851:0.183	.	.	.	.	H	127	.	.	R	+	2	0	VPS13D	12260144	0.000000	0.05858	0.651000	0.29564	0.955000	0.61496	-1.132000	0.03235	-1.457000	0.01919	-1.093000	0.02169	CGT		0.423	VPS13D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000036897.2	NM_015378		45	57	0	0	0	1	0	45	57					A	12337557	G	A	12337557	2	1	435	1	0	0	0	0	0	0	0	1	17189	1132	40	1		1	VPS13D	1	12337557	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	161812	12337557	236913064	74	20999											
VPS13D	55187	broad.mit.edu	37	chr1	12371652	12371652	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cccatagaggaatttatgcgGccttatgatttacaagatcc	12	12	8	9	1	0	3	0	1	0	2	1	4	1	4	3	2	2	0	3	2	6	6			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:12371652G>A	ENST00000358136.3	+	28	6922	c.6792G>A	c.(6790-6792)cgG>cgA	p.R2264R	VPS13D_ENST00000356315.4_Silent_p.R2264R	NM_015378.2	NP_056193.2			vacuolar protein sorting 13 homolog D (S. cerevisiae)											NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		AATTTATGCGGCCTTATGATT	0.443																																						ENST00000358136.3																			0				NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130						c.(6790-6792)cgG>cgA		vacuolar protein sorting 13 homolog D (S. cerevisiae)							147	148	147					1																	12371652		2203	4300	6503	SO:0001819	synonymous_variant	55187				protein localization			g.chr1:12371652G>A	AJ608774	CCDS30588.1, CCDS30589.1	1p36.21	2008-02-05	2006-04-04		ENSG00000048707	ENSG00000048707			23595	protein-coding gene	gene with protein product		608877	"vacuolar protein sorting 13D (yeast)"				Standard	NM_015378		Approved	FLJ10619, KIAA0453	uc001atv.3	Q5THJ4	OTTHUMG00000013155	ENST00000358136.3:c.6792G>A	1.37:g.12371652G>A						VPS13D_ENST00000356315.4_Silent_p.R2264R	p.R2264R	NM_015378.2	NP_056193.2	Q5THJ4	VP13D_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)	28	6922	+	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)	2264						Silent	SNP	ENST00000358136.3	37	c.6792G>A	CCDS30588.1	.	.	.	.	.	.	.	.	.	.	G	10.15	1.271820	0.23221	.	.	ENSG00000048707	ENST00000011700	.	.	.	5.66	0.288	0.15719	.	.	.	.	.	T	0.42921	0.1224	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.32107	-0.9919	4	.	.	.	.	2.4395	0.04490	0.2291:0.3343:0.3221:0.1146	.	.	.	.	D	1087	.	.	G	+	2	0	VPS13D	12294239	0.980000	0.34600	1.000000	0.80357	0.998000	0.95712	0.247000	0.18179	0.710000	0.31997	0.563000	0.77884	GGC		0.443	VPS13D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000036897.2	NM_015378		47	76	0	0	0	1	0	47	76					A	12371652	G	A	12371652	2	1	435	1	0	0	0	0	0	0	0	1	17189	1190	42	3		3	VPS13D	1	12371652	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	34095	12371652	236878969	75	21000											
VPS13D	55187	broad.mit.edu	37	chr1	12382686	12382686	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcccagagcaagctaatgctGcagtgccagactcagtggcc	10	7	11	13	0	1	2	1	0	0	2	2	2	2	2	3	1	5	4	3	1	2	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:12382686G>A	ENST00000358136.3	+	34	7928	c.7798G>A	c.(7798-7800)Gca>Aca	p.A2600T	VPS13D_ENST00000356315.4_Missense_Mutation_p.A2600T	NM_015378.2	NP_056193.2			vacuolar protein sorting 13 homolog D (S. cerevisiae)											NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		AGCTAATGCTGCAGTGCCAGA	0.488																																						ENST00000358136.3																			0				NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130						c.(7798-7800)Gca>Aca		vacuolar protein sorting 13 homolog D (S. cerevisiae)							132	123	126					1																	12382686		2203	4300	6503	SO:0001583	missense	55187				protein localization			g.chr1:12382686G>A	AJ608774	CCDS30588.1, CCDS30589.1	1p36.21	2008-02-05	2006-04-04		ENSG00000048707	ENSG00000048707			23595	protein-coding gene	gene with protein product		608877	"vacuolar protein sorting 13D (yeast)"				Standard	NM_015378		Approved	FLJ10619, KIAA0453	uc001atv.3	Q5THJ4	OTTHUMG00000013155	ENST00000358136.3:c.7798G>A	1.37:g.12382686G>A	ENSP00000350854:p.Ala2600Thr					VPS13D_ENST00000356315.4_Missense_Mutation_p.A2600T	p.A2600T	NM_015378.2	NP_056193.2	Q5THJ4	VP13D_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)	34	7928	+	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)	2600						Missense_Mutation	SNP	ENST00000358136.3	37	c.7798G>A	CCDS30588.1	.	.	.	.	.	.	.	.	.	.	G	9.982	1.228337	0.22542	.	.	ENSG00000048707	ENST00000356315;ENST00000358136	T;T	0.54866	0.55;0.55	5.73	5.73	0.89815	.	0.471561	0.24645	N	0.036774	T	0.41419	0.1158	L	0.40543	1.245	0.25148	N	0.990441	B;B;B	0.28713	0.22;0.08;0.048	B;B;B	0.26202	0.039;0.067;0.03	T	0.23976	-1.0173	10	0.12766	T	0.61	.	13.1412	0.59436	0.073:0.0:0.927:0.0	.	507;2600;2600	B1AJZ2;Q5THJ4-2;Q5THJ4	.;.;VP13D_HUMAN	T	2600	ENSP00000348666:A2600T;ENSP00000350854:A2600T	ENSP00000348666:A2600T	A	+	1	0	VPS13D	12305273	0.998000	0.40836	0.073000	0.20177	0.065000	0.16274	3.084000	0.50143	2.708000	0.92522	0.563000	0.77884	GCA		0.488	VPS13D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000036897.2	NM_015378		20	37	0	0	0	1	0	20	37					A	12382686	G	A	12382686	3	1	435	1	0	0	0	0	1	0	0	0	17189	1319	46	3	7928	3	VPS13D	1	12382686	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	11034	12382686	236867935	76	21001											
VPS13D	55187	broad.mit.edu	37	chr1	12383814	12383814	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	attcagcatggatgattgtcGcaaagctcttttggcgtgtc	8	14	11	8	2	2	1	1	1	1	0	4	2	2	2	0	2	2	3	0	2	1	4	rs200982609		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:12383814G>A	ENST00000358136.3	+	35	8097	c.7967G>A	c.(7966-7968)cGc>cAc	p.R2656H	VPS13D_ENST00000356315.4_Missense_Mutation_p.R2656H	NM_015378.2	NP_056193.2			vacuolar protein sorting 13 homolog D (S. cerevisiae)											NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		GATGATTGTCGCAAAGCTCTT	0.388																																						ENST00000358136.3																			0				NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130						c.(7966-7968)cGc>cAc		vacuolar protein sorting 13 homolog D (S. cerevisiae)							136	125	129					1																	12383814		2203	4300	6503	SO:0001583	missense	55187				protein localization			g.chr1:12383814G>A	AJ608774	CCDS30588.1, CCDS30589.1	1p36.21	2008-02-05	2006-04-04		ENSG00000048707	ENSG00000048707			23595	protein-coding gene	gene with protein product		608877	"vacuolar protein sorting 13D (yeast)"				Standard	NM_015378		Approved	FLJ10619, KIAA0453	uc001atv.3	Q5THJ4	OTTHUMG00000013155	ENST00000358136.3:c.7967G>A	1.37:g.12383814G>A	ENSP00000350854:p.Arg2656His					VPS13D_ENST00000356315.4_Missense_Mutation_p.R2656H	p.R2656H	NM_015378.2	NP_056193.2	Q5THJ4	VP13D_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)	35	8097	+	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)	2656			UBA.			Missense_Mutation	SNP	ENST00000358136.3	37	c.7967G>A	CCDS30588.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	29.6|29.6	5.023874|5.023874	0.93462|0.93462	.|.	.|.	ENSG00000048707|ENSG00000048707	ENST00000011700|ENST00000356315;ENST00000358136	.|T;T	.|0.26067	.|1.76;1.76	5.61|5.61	5.61|5.61	0.85477|0.85477	.|Ubiquitin-associated/translation elongation factor EF1B, N-terminal, eukaryote (2);Ubiquitin-associated/translation elongation factor EF1B, N-terminal (1);UBA-like (1);	.|0.073997	.|0.52532	.|D	.|0.000062	T|T	0.49847|0.49847	0.1581|0.1581	M|M	0.64404|0.64404	1.975|1.975	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|1.0;0.999;0.999	.|D;P;P	.|0.73380	.|0.98;0.825;0.891	T|T	0.27839|0.27839	-1.0062|-1.0062	5|10	.|0.34782	.|T	.|0.22	.|.	19.6336|19.6336	0.95721|0.95721	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|563;2656;2656	.|B1AJZ2;Q5THJ4-2;Q5THJ4	.|.;.;VP13D_HUMAN	T|H	1479|2656	.|ENSP00000348666:R2656H;ENSP00000350854:R2656H	.|ENSP00000348666:R2656H	A|R	+|+	1|2	0|0	VPS13D|VPS13D	12306401|12306401	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	6.233000|6.233000	0.72320|0.72320	2.646000|2.646000	0.89796|0.89796	0.637000|0.637000	0.83480|0.83480	GCA|CGC		0.388	VPS13D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000036897.2	NM_015378		33	62	0	0	0	1	0	33	62					A	12383814	G	A	12383814	3	1	435	1	0	0	0	0	1	0	0	0	17189	1087	38	1	8101	1	VPS13D	1	12383814	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	1128	12383814	236866807	77	21002											
VPS13D	55187	broad.mit.edu	37	chr1	12387744	12387744	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aagttggttgtttaagaatgCggaacctctgaagtctcttt	10	15	10	6	1	2	2	0	1	2	1	3	3	2	3	1	2	2	3	1	2	5	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:12387744C>T	ENST00000358136.3	+	36	8160	c.8030C>T	c.(8029-8031)gCg>gTg	p.A2677V	VPS13D_ENST00000356315.4_Missense_Mutation_p.A2677V	NM_015378.2	NP_056193.2			vacuolar protein sorting 13 homolog D (S. cerevisiae)											NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		TTTAAGAATGCGGAACCTCTG	0.502																																						ENST00000358136.3																			0				NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130						c.(8029-8031)gCg>gTg		vacuolar protein sorting 13 homolog D (S. cerevisiae)							175	182	180					1																	12387744		2203	4300	6503	SO:0001583	missense	55187				protein localization			g.chr1:12387744C>T	AJ608774	CCDS30588.1, CCDS30589.1	1p36.21	2008-02-05	2006-04-04		ENSG00000048707	ENSG00000048707			23595	protein-coding gene	gene with protein product		608877	"vacuolar protein sorting 13D (yeast)"				Standard	NM_015378		Approved	FLJ10619, KIAA0453	uc001atv.3	Q5THJ4	OTTHUMG00000013155	ENST00000358136.3:c.8030C>T	1.37:g.12387744C>T	ENSP00000350854:p.Ala2677Val					VPS13D_ENST00000356315.4_Missense_Mutation_p.A2677V	p.A2677V	NM_015378.2	NP_056193.2	Q5THJ4	VP13D_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)	36	8160	+	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)	2677						Missense_Mutation	SNP	ENST00000358136.3	37	c.8030C>T	CCDS30588.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	36|36	5.714859|5.714859	0.96830|0.96830	.|.	.|.	ENSG00000048707|ENSG00000048707	ENST00000356315;ENST00000358136|ENST00000011700	T;T|.	0.40756|.	1.02;1.02|.	5.81|5.81	5.81|5.81	0.92471|0.92471	UBA-like (1);|.	0.270105|.	0.37136|.	N|.	0.002232|.	T|T	0.78039|0.78039	0.4221|0.4221	M|M	0.76328|0.76328	2.33|2.33	0.80722|0.80722	D|D	1|1	D;P;D|.	0.89917|.	1.0;0.878;0.963|.	D;P;P|.	0.80764|.	0.994;0.53;0.603|.	T|T	0.76260|0.76260	-0.3024|-0.3024	10|5	0.34782|.	T|.	0.22|.	.|.	20.0621|20.0621	0.97678|0.97678	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	584;2677;2677|.	B1AJZ2;Q5THJ4-2;Q5THJ4|.	.;.;VP13D_HUMAN|.	V|W	2677|1500	ENSP00000348666:A2677V;ENSP00000350854:A2677V|.	ENSP00000348666:A2677V|.	A|R	+|+	2|1	0|2	VPS13D|VPS13D	12310331|12310331	1.000000|1.000000	0.71417|0.71417	0.989000|0.989000	0.46669|0.46669	0.991000|0.991000	0.79684|0.79684	7.445000|7.445000	0.80570|0.80570	2.750000|2.750000	0.94351|0.94351	0.655000|0.655000	0.94253|0.94253	GCG|CGG		0.502	VPS13D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000036897.2	NM_015378		61	124	0	0	0	1	0	61	124					T	12387744	C	T	12387744	3	4	435	1	0	0	0	0	1	0	0	0	17189	768	27	1	8168	1	VPS13D	1	12387744	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	3930	12387744	236862877	78	21003											
VPS13D	55187	broad.mit.edu	37	chr1	12389963	12389963	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tttctggagattattataacCgtgctctttcaggtcagtat	9	17	8	7	1	4	1	2	0	2	1	4	2	4	1	1	2	2	2	1	2	4	6			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:12389963C>T	ENST00000358136.3	+	37	8405	c.8275C>T	c.(8275-8277)Cgt>Tgt	p.R2759C	VPS13D_ENST00000356315.4_Missense_Mutation_p.R2759C	NM_015378.2	NP_056193.2			vacuolar protein sorting 13 homolog D (S. cerevisiae)											NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		TTATTATAACCGTGCTCTTTC	0.368																																						ENST00000358136.3																			0				NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130						c.(8275-8277)Cgt>Tgt		vacuolar protein sorting 13 homolog D (S. cerevisiae)							96	86	90					1																	12389963		2203	4300	6503	SO:0001583	missense	55187				protein localization			g.chr1:12389963C>T	AJ608774	CCDS30588.1, CCDS30589.1	1p36.21	2008-02-05	2006-04-04		ENSG00000048707	ENSG00000048707			23595	protein-coding gene	gene with protein product		608877	"vacuolar protein sorting 13D (yeast)"				Standard	NM_015378		Approved	FLJ10619, KIAA0453	uc001atv.3	Q5THJ4	OTTHUMG00000013155	ENST00000358136.3:c.8275C>T	1.37:g.12389963C>T	ENSP00000350854:p.Arg2759Cys					VPS13D_ENST00000356315.4_Missense_Mutation_p.R2759C	p.R2759C	NM_015378.2	NP_056193.2	Q5THJ4	VP13D_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)	37	8405	+	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)	2759						Missense_Mutation	SNP	ENST00000358136.3	37	c.8275C>T	CCDS30588.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.245482	0.80024	.	.	ENSG00000048707	ENST00000356315;ENST00000358136	T;T	0.50277	0.75;0.75	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	T	0.73393	0.3581	M	0.82716	2.605	0.80722	D	1	D;D;D	0.89917	1.0;0.999;0.999	D;D;D	0.83275	0.996;0.935;0.973	T	0.73726	-0.3892	10	0.52906	T	0.07	.	20.3431	0.98773	0.0:1.0:0.0:0.0	.	666;2759;2759	B1AJZ2;Q5THJ4-2;Q5THJ4	.;.;VP13D_HUMAN	C	2759	ENSP00000348666:R2759C;ENSP00000350854:R2759C	ENSP00000348666:R2759C	R	+	1	0	VPS13D	12312550	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.308000	0.51896	2.880000	0.98712	0.650000	0.86243	CGT		0.368	VPS13D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000036897.2	NM_015378		15	41	0	0	0	1	0	15	41					T	12389963	C	T	12389963	3	4	435	1	0	0	0	0	1	0	0	0	17189	652	23	2	8417	2	VPS13D	1	12389963	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	2219	12389963	236860658	79	21004											
VPS13D	55187	broad.mit.edu	37	chr1	12416057	12416057	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctatgacgtcaaccgtcggCagctgaacctcaccatccgg	9	8	9	15	4	3	2	2	2	1	0	5	2	4	2	4	2	3	2	4	2	3	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:12416057C>T	ENST00000358136.3	+	48	9911	c.9781C>T	c.(9781-9783)Cag>Tag	p.Q3261*	VPS13D_ENST00000356315.4_Nonsense_Mutation_p.Q3236*	NM_015378.2	NP_056193.2			vacuolar protein sorting 13 homolog D (S. cerevisiae)											NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		CAACCGTCGGCAGCTGAACCT	0.453																																						ENST00000358136.3																			0				NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130						c.(9781-9783)Cag>Tag		vacuolar protein sorting 13 homolog D (S. cerevisiae)							131	118	122					1																	12416057		2203	4300	6503	SO:0001587	stop_gained	55187				protein localization			g.chr1:12416057C>T	AJ608774	CCDS30588.1, CCDS30589.1	1p36.21	2008-02-05	2006-04-04		ENSG00000048707	ENSG00000048707			23595	protein-coding gene	gene with protein product		608877	"vacuolar protein sorting 13D (yeast)"				Standard	NM_015378		Approved	FLJ10619, KIAA0453	uc001atv.3	Q5THJ4	OTTHUMG00000013155	ENST00000358136.3:c.9781C>T	1.37:g.12416057C>T	ENSP00000350854:p.Gln3261*					VPS13D_ENST00000356315.4_Nonsense_Mutation_p.Q3236*	p.Q3261*	NM_015378.2	NP_056193.2	Q5THJ4	VP13D_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)	48	9911	+	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)	3260						Nonsense_Mutation	SNP	ENST00000358136.3	37	c.9781C>T	CCDS30588.1	.	.	.	.	.	.	.	.	.	.	C	52	18.978802	0.99913	.	.	ENSG00000048707	ENST00000356315;ENST00000358136	.	.	.	5.89	5.89	0.94794	.	0.064026	0.64402	D	0.000004	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.05959	T	0.93	.	20.2618	0.98447	0.0:1.0:0.0:0.0	.	.	.	.	X	3236;3261	.	ENSP00000348666:Q3236X	Q	+	1	0	VPS13D	12338644	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.466000	0.80914	2.793000	0.96121	0.655000	0.94253	CAG		0.453	VPS13D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000036897.2	NM_015378		33	65	0	0	0	1	0	33	65					T	12416057	C	T	12416057	4	4	435	1	0	0	0	0	0	1	0	0	17189	711	25	3	9967	3	VPS13D	1	12416057	Nonsense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	26094	12416057	236834564	80	21005											
VPS13D	55187	broad.mit.edu	37	chr1	12443156	12443156	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tattaatcaaaaaatgagacCtggttctggaatgttatcca	15	13	7	6	0	2	1	1	1	1	1	3	3	3	2	2	2	0	2	2	2	7	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:12443156C>A	ENST00000358136.3	+	58	11442	c.11312C>A	c.(11311-11313)cCt>cAt	p.P3771H	VPS13D_ENST00000496628.1_3'UTR|VPS13D_ENST00000356315.4_Missense_Mutation_p.P3746H	NM_015378.2	NP_056193.2			vacuolar protein sorting 13 homolog D (S. cerevisiae)											NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		AAAATGAGACCTGGTTCTGGA	0.423																																						ENST00000358136.3																			0				NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130						c.(11311-11313)cCt>cAt		vacuolar protein sorting 13 homolog D (S. cerevisiae)							101	97	98					1																	12443156		2203	4300	6503	SO:0001583	missense	55187				protein localization			g.chr1:12443156C>A	AJ608774	CCDS30588.1, CCDS30589.1	1p36.21	2008-02-05	2006-04-04		ENSG00000048707	ENSG00000048707			23595	protein-coding gene	gene with protein product		608877	"vacuolar protein sorting 13D (yeast)"				Standard	NM_015378		Approved	FLJ10619, KIAA0453	uc001atv.3	Q5THJ4	OTTHUMG00000013155	ENST00000358136.3:c.11312C>A	1.37:g.12443156C>A	ENSP00000350854:p.Pro3771His					VPS13D_ENST00000496628.1_3'UTR|VPS13D_ENST00000356315.4_Missense_Mutation_p.P3746H	p.P3771H	NM_015378.2	NP_056193.2	Q5THJ4	VP13D_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)	58	11442	+	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)	3770						Missense_Mutation	SNP	ENST00000358136.3	37	c.11312C>A	CCDS30588.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	27.7|27.7	4.854156|4.854156	0.91355|0.91355	.|.	.|.	ENSG00000048707|ENSG00000048707	ENST00000011700|ENST00000356315;ENST00000358136	.|T;T	.|0.57752	.|0.38;0.39	5.85|5.85	5.85|5.85	0.93711|0.93711	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.75510|0.75510	0.3859|0.3859	M|M	0.77486|0.77486	2.375|2.375	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.97110	.|1.0;1.0	T|T	0.76732|0.76732	-0.2851|-0.2851	5|10	.|0.72032	.|D	.|0.01	.|.	20.1606|20.1606	0.98132|0.98132	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|3746;3770	.|Q5THJ4-2;Q5THJ4	.|.;VP13D_HUMAN	M|H	2593|3746;3771	.|ENSP00000348666:P3746H;ENSP00000350854:P3771H	.|ENSP00000348666:P3746H	L|P	+|+	1|2	2|0	VPS13D|VPS13D	12365743|12365743	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.930000|0.930000	0.56654|0.56654	7.192000|7.192000	0.77771|0.77771	2.772000|2.772000	0.95346|0.95346	0.650000|0.650000	0.86243|0.86243	CTG|CCT		0.423	VPS13D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000036897.2	NM_015378		30	41	1	0	1.75199e-13	1	1.90424e-13	30	41					A	12443156	C	A	12443156	3	1	435	1	0	0	0	0	1	0	0	0	17189	681	24	5	11538	5	VPS13D	1	12443156	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	27099	12443156	236807465	81	21006											
AADACL4	343066	broad.mit.edu	37	chr1	12721814	12721814	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tcttgcagattgttaccatgGcctgtgcaattatctggccc	7	14	9	11	0	2	1	0	0	2	1	2	1	2	1	3	2	3	3	3	2	3	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:12721814G>A	ENST00000376221.1	+	3	398	c.398G>A	c.(397-399)gGc>gAc	p.G133D		NM_001013630.1	NP_001013652.1	Q5VUY2	ADCL4_HUMAN	arylacetamide deacetylase-like 4	133						integral component of membrane (GO:0016021)	carboxylic ester hydrolase activity (GO:0052689)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)	17	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.000937)|all_lung(284;0.00122)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.81e-07)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0384)		TGTTACCATGGCCTGTGCAAT	0.522																																						ENST00000376221.1																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)	17						c.(397-399)gGc>gAc		arylacetamide deacetylase-like 4							257	242	247					1																	12721814		2203	4300	6503	SO:0001583	missense	343066					integral to membrane	carboxylesterase activity	g.chr1:12721814G>A		CCDS30590.1	1p36.21	2010-12-14			ENSG00000204518	ENSG00000204518			32038	protein-coding gene	gene with protein product							Standard	XM_006710608		Approved	OTTHUMG00000001889	uc001auf.3	Q5VUY2	OTTHUMG00000001889	ENST00000376221.1:c.398G>A	1.37:g.12721814G>A	ENSP00000365395:p.Gly133Asp						p.G133D	NM_001013630.1	NP_001013652.1	Q5VUY2	ADCL4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.81e-07)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0384)	3	398	+	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.000937)|all_lung(284;0.00122)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)	133						Missense_Mutation	SNP	ENST00000376221.1	37	c.398G>A	CCDS30590.1	.	.	.	.	.	.	.	.	.	.	G	3.322	-0.138590	0.06669	.	.	ENSG00000204518	ENST00000376221	T	0.58506	0.33	3.86	-3.89	0.04193	Alpha/beta hydrolase fold-3 (1);	0.952597	0.08840	N	0.886006	T	0.39436	0.1078	L	0.39566	1.225	0.09310	N	1	B	0.12013	0.005	B	0.18263	0.021	T	0.31024	-0.9958	10	0.12766	T	0.61	-12.6952	6.0132	0.19588	0.5524:0.1374:0.3102:0.0	.	133	Q5VUY2	ADCL4_HUMAN	D	133	ENSP00000365395:G133D	ENSP00000365395:G133D	G	+	2	0	AADACL4	12644401	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.420000	0.02457	-0.804000	0.04410	-0.291000	0.09656	GGC		0.522	AADACL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005328.1	NM_001013630		38	72	0	0	0	1	0	38	72					A	12721814	G	A	12721814	3	1	435	1	0	0	0	0	1	0	0	0	13	1203	42	3	408	3	AADACL4	1	12721814	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	278658	12721814	236528807	82	21007											
AADACL3	126767	broad.mit.edu	37	chr1	12785858	12785858	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtgacctggcaccatatggaGgatggtttccatggagtgct	8	11	14	8	0	0	1	0	1	0	0	1	4	1	4	3	5	1	3	3	5	1	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:12785858G>T	ENST00000359318.5	+	4	1153	c.948G>T	c.(946-948)gaG>gaT	p.E316D	AADACL3_ENST00000332530.3_Missense_Mutation_p.E246D	NM_001103170.1	NP_001096640.1	Q5VUY0	ADCL3_HUMAN	arylacetamide deacetylase-like 3	316							hydrolase activity (GO:0016787)			breast(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)	15	Ovarian(185;0.249)	Lung NSC(185;8.27e-05)|all_lung(284;9.47e-05)|Renal(390;0.000147)|Colorectal(325;0.000583)|Breast(348;0.000596)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)		ACCATATGGAGGATGGTTTCC	0.493																																						ENST00000332530.3																			0				breast(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)	15						c.(736-738)gaG>gaT		arylacetamide deacetylase-like 3							74	72	73					1																	12785858		1966	4152	6118	SO:0001583	missense	126767						hydrolase activity	g.chr1:12785858G>T		CCDS41253.1	1p36.21	2014-07-17			ENSG00000188984	ENSG00000188984			32037	protein-coding gene	gene with protein product							Standard	XM_006710337		Approved	OTTHUMG00000001887	uc009vnn.1	Q5VUY0	OTTHUMG00000001887	ENST00000359318.5:c.948G>T	1.37:g.12785858G>T	ENSP00000352268:p.Glu316Asp					AADACL3_ENST00000359318.5_Missense_Mutation_p.E316D	p.E246D	NM_001103169.1	NP_001096639.1	Q5VUY0	ADCL3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)	3	964	+	Ovarian(185;0.249)	Lung NSC(185;8.27e-05)|all_lung(284;9.47e-05)|Renal(390;0.000147)|Colorectal(325;0.000583)|Breast(348;0.000596)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	316					B3KXR9|Q5VUY1	Missense_Mutation	SNP	ENST00000359318.5	37	c.738G>T	CCDS41253.1	.	.	.	.	.	.	.	.	.	.	G	10.04	1.240716	0.22711	.	.	ENSG00000188984	ENST00000332530;ENST00000359318	T;T	0.09630	2.96;2.96	5.54	-1.69	0.08186	Alpha/beta hydrolase fold-3 (1);	0.261229	0.36338	N	0.002652	T	0.10465	0.0256	L	0.54908	1.71	0.21147	N	0.999775	B;B	0.21147	0.025;0.052	B;B	0.31614	0.133;0.059	T	0.27157	-1.0082	10	0.38643	T	0.18	-28.4993	7.4003	0.26960	0.5066:0.115:0.3784:0.0	.	316;246	Q5VUY0;Q5VUY0-2	ADCL3_HUMAN;.	D	246;316	ENSP00000333352:E246D;ENSP00000352268:E316D	ENSP00000333352:E246D	E	+	3	2	AADACL3	12708445	0.567000	0.26626	0.719000	0.30619	0.071000	0.16799	-0.017000	0.12590	-0.274000	0.09232	0.491000	0.48974	GAG		0.493	AADACL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005324.2	NM_001103170		20	37	1	0	1.01871e-10	1	1.09092e-10	20	37					T	12785858	G	T	12785858	3	4	435	1	0	0	0	0	1	0	0	0	12	991	35	5	966	5	AADACL3	1	12785858	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	64044	12785858	236464763	83	21008											
PRAMEF6	440561	broad.mit.edu	37	chr1	13001190	13001190	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacccatagaaggaggcaggTgaggtattcatccagagtcc	12	7	13	9	0	1	3	1	1	0	2	3	5	3	4	3	4	0	2	3	4	3	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:13001190T>C	ENST00000376189.1	-	3	592	c.493A>G	c.(493-495)Acc>Gcc	p.T165A	PRAMEF6_ENST00000415464.2_Missense_Mutation_p.T165A|PRAMEF6_ENST00000376192.5_Intron	NM_001010889.2	NP_001010889.1	Q5VXH4	PRAM6_HUMAN	PRAME family member 6	165					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)					NS(1)|kidney(1)|lung(5)|urinary_tract(2)	9	Ovarian(185;0.249)	Lung NSC(185;3.67e-05)|all_lung(284;4.03e-05)|Renal(390;0.000147)|Breast(348;0.000278)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		AGGAGGCAGGTGAGGTATTCA	0.473																																						ENST00000376189.1																			0				NS(1)|kidney(1)|lung(5)|urinary_tract(2)	9						c.(493-495)Acc>Gcc		PRAME family member 6							53	93	79					1																	13001190		1454	2640	4094	SO:0001583	missense	440561							g.chr1:13001190T>C		CCDS30594.1	1p36.21	2013-01-17				ENSG00000232423		"-"	30583	protein-coding gene	gene with protein product							Standard	NM_001010889		Approved		uc001auq.2	Q5VXH4	OTTHUMG00000001984	ENST00000376189.1:c.493A>G	1.37:g.13001190T>C	ENSP00000365360:p.Thr165Ala					PRAMEF6_ENST00000415464.2_Missense_Mutation_p.T165A|PRAMEF6_ENST00000376192.5_Intron	p.T165A	NM_001010889.2	NP_001010889.1	Q5VXH4	PRAM6_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)	3	592	-	Ovarian(185;0.249)	Lung NSC(185;3.67e-05)|all_lung(284;4.03e-05)|Renal(390;0.000147)|Breast(348;0.000278)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	165					A0AUJ9	Missense_Mutation	SNP	ENST00000376189.1	37	c.493A>G	CCDS30594.1	.	.	.	.	.	.	.	.	.	.	.	9.532	1.111034	0.20714	.	.	ENSG00000232423	ENST00000376189;ENST00000415464;ENST00000355096	T;T;T	0.04603	3.59;3.59;3.59	1.52	0.217	0.15264	.	0.523213	0.19444	N	0.114110	T	0.09291	0.0229	L	0.39467	1.215	0.09310	N	1	D	0.61697	0.99	D	0.73380	0.98	T	0.18366	-1.0339	10	0.44086	T	0.13	.	3.6908	0.08346	0.3357:0.0:0.0:0.6643	.	165	Q5VXH4	PRAM6_HUMAN	A	165	ENSP00000365360:T165A;ENSP00000401281:T165A;ENSP00000347211:T165A	ENSP00000347211:T165A	T	-	1	0	PRAMEF6	12923777	0.000000	0.05858	0.001000	0.08648	0.003000	0.03518	-1.089000	0.03376	0.035000	0.15519	0.318000	0.21364	ACC		0.473	PRAMEF6-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_001010889		33	238	0	0	0	1	0	33	238					C	13001190	T	C	13001190	3	2	435	1	0	0	0	0	1	0	0	0	12438	1696	59	4	945	4	PRAMEF6	1	13001190	Missense_Mutation	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	215332	13001190	236249431	84	21009											
PRDM2	7799	broad.mit.edu	37	chr1	14057532	14057532	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcggccaccgagaccctggCtgaggtacccgaacatgtgc	8	5	14	14	3	0	2	0	1	0	1	0	4	0	2	4	4	3	2	4	4	2	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:14057532C>T	ENST00000235372.7	+	3	903	c.47C>T	c.(46-48)gCt>gTt	p.A16V	PRDM2_ENST00000311066.5_Missense_Mutation_p.A16V|PRDM2_ENST00000376048.5_Missense_Mutation_p.A16V	NM_012231.4	NP_036363.2	Q13029	PRDM2_HUMAN	PR domain containing 2, with ZNF domain	16					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(16)|lung(20)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	55	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145)		GAGACCCTGGCTGAGGTACCC	0.512																																						ENST00000235372.7																			0				endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(16)|lung(20)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	55						c.(46-48)gCt>gTt		PR domain containing 2, with ZNF domain							119	114	116					1																	14057532		2203	4300	6503	SO:0001583	missense	7799					Golgi apparatus|nucleus	DNA binding|histone-lysine N-methyltransferase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr1:14057532C>T	U17838	CCDS150.1, CCDS151.1, CCDS30603.1, CCDS44061.1	1p36	2011-07-01			ENSG00000116731	ENSG00000116731		"Chromatin-modifying enzymes / K-methyltransferases"	9347	protein-coding gene	gene with protein product	"retinoblastoma protein-binding zinc finger protein", "retinoblastoma protein-interacting zinc finger protein", "MTE-binding protein", "zinc-finger DNA-binding protein", "GATA-3 binding protein G3B"	601196				7538672	Standard	NM_012231		Approved	RIZ, RIZ1, RIZ2, KMT8, MTB-ZF, HUMHOXY1	uc001avi.3	Q13029	OTTHUMG00000007917	ENST00000235372.7:c.47C>T	1.37:g.14057532C>T	ENSP00000235372:p.Ala16Val					PRDM2_ENST00000311066.5_Missense_Mutation_p.A16V|PRDM2_ENST00000376048.5_Missense_Mutation_p.A16V	p.A16V	NM_012231.4	NP_036363.2	Q13029	PRDM2_HUMAN	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145)	3	903	+	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	16					B1AJZ4|B5MC68|Q13149|Q14550|Q5THJ1|Q5VUL9	Missense_Mutation	SNP	ENST00000235372.7	37	c.47C>T	CCDS150.1	.	.	.	.	.	.	.	.	.	.	C	19.46	3.830868	0.71258	.	.	ENSG00000116731	ENST00000484063;ENST00000376048;ENST00000235372;ENST00000311066;ENST00000400800	T;T;T;T	0.72942	-0.7;-0.7;-0.7;-0.7	5.91	5.91	0.95273	.	0.231136	0.43579	D	0.000544	T	0.68851	0.3046	L	0.59436	1.845	0.44188	D	0.997006	P;P;P	0.46952	0.819;0.887;0.499	B;B;B	0.41860	0.203;0.368;0.119	T	0.69870	-0.5028	10	0.40728	T	0.16	.	15.7964	0.78412	0.0:1.0:0.0:0.0	.	16;16;16	Q13029;Q13029-2;B1AJZ4	PRDM2_HUMAN;.;.	V	16	ENSP00000423010:A16V;ENSP00000365216:A16V;ENSP00000235372:A16V;ENSP00000312352:A16V	ENSP00000235372:A16V	A	+	2	0	PRDM2	13930119	0.984000	0.35163	0.996000	0.52242	0.954000	0.61252	2.640000	0.46579	2.813000	0.96785	0.655000	0.94253	GCT		0.512	PRDM2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000021792.2	NM_012231		9	57	0	0	0	1	0	9	57					T	14057532	C	T	14057532	3	4	435	1	0	0	0	0	1	0	0	0	12458	797	28	3	53	3	PRDM2	1	14057532	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	1056342	14057532	235193089	85	21010											
PRDM2	7799	broad.mit.edu	37	chr1	14105419	14105419	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caaccaaacaggggcttgagCgtcacatgcatatccatata	14	8	8	11	1	1	1	1	1	0	0	2	1	2	1	2	2	4	2	2	2	5	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:14105419C>T	ENST00000235372.7	+	8	1985	c.1129C>T	c.(1129-1131)Cgt>Tgt	p.R377C	PRDM2_ENST00000311066.5_Missense_Mutation_p.R377C|PRDM2_ENST00000343137.4_Missense_Mutation_p.R176C|PRDM2_ENST00000376048.5_Intron|PRDM2_ENST00000503842.1_Intron|PRDM2_ENST00000505823.1_Intron|PRDM2_ENST00000413440.1_Missense_Mutation_p.R176C	NM_012231.4	NP_036363.2	Q13029	PRDM2_HUMAN	PR domain containing 2, with ZNF domain	377					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(16)|lung(20)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	55	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145)		GGGGCTTGAGCGTCACATGCA	0.453																																						ENST00000235372.7																			0				endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(16)|lung(20)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	55						c.(1129-1131)Cgt>Tgt		PR domain containing 2, with ZNF domain							120	113	115					1																	14105419		2203	4300	6503	SO:0001583	missense	7799					Golgi apparatus|nucleus	DNA binding|histone-lysine N-methyltransferase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr1:14105419C>T	U17838	CCDS150.1, CCDS151.1, CCDS30603.1, CCDS44061.1	1p36	2011-07-01			ENSG00000116731	ENSG00000116731		"Chromatin-modifying enzymes / K-methyltransferases"	9347	protein-coding gene	gene with protein product	"retinoblastoma protein-binding zinc finger protein", "retinoblastoma protein-interacting zinc finger protein", "MTE-binding protein", "zinc-finger DNA-binding protein", "GATA-3 binding protein G3B"	601196				7538672	Standard	NM_012231		Approved	RIZ, RIZ1, RIZ2, KMT8, MTB-ZF, HUMHOXY1	uc001avi.3	Q13029	OTTHUMG00000007917	ENST00000235372.7:c.1129C>T	1.37:g.14105419C>T	ENSP00000235372:p.Arg377Cys					PRDM2_ENST00000505823.1_Intron|PRDM2_ENST00000503842.1_Intron|PRDM2_ENST00000311066.5_Missense_Mutation_p.R377C|PRDM2_ENST00000343137.4_Missense_Mutation_p.R176C|PRDM2_ENST00000413440.1_Missense_Mutation_p.R176C|PRDM2_ENST00000376048.5_Intron	p.R377C	NM_012231.4	NP_036363.2	Q13029	PRDM2_HUMAN	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145)	8	1985	+	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	377					B1AJZ4|B5MC68|Q13149|Q14550|Q5THJ1|Q5VUL9	Missense_Mutation	SNP	ENST00000235372.7	37	c.1129C>T	CCDS150.1	.	.	.	.	.	.	.	.	.	.	C	17.44	3.389576	0.61956	.	.	ENSG00000116731	ENST00000235372;ENST00000311066;ENST00000400800;ENST00000413440;ENST00000343137	T;T;T;T	0.80480	-1.38;-1.38;-1.38;-1.38	5.48	5.48	0.80851	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	D	0.91751	0.7391	M	0.90595	3.13	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;0.999;1.0	D	0.93164	0.6560	10	0.87932	D	0	.	17.925	0.88980	0.0:1.0:0.0:0.0	.	377;235;377;377	A8MW16;Q5THJ0;Q13029;Q13029-2	.;.;PRDM2_HUMAN;.	C	377;377;377;176;176	ENSP00000235372:R377C;ENSP00000312352:R377C;ENSP00000411103:R176C;ENSP00000341621:R176C	ENSP00000235372:R377C	R	+	1	0	PRDM2	13978006	1.000000	0.71417	0.778000	0.31720	0.971000	0.66376	7.487000	0.81328	2.564000	0.86499	0.561000	0.74099	CGT		0.453	PRDM2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000021792.2	NM_012231		22	40	0	0	0	1	0	22	40					T	14105419	C	T	14105419	3	4	435	1	0	0	0	0	1	0	0	0	12458	768	27	1	1155	1	PRDM2	1	14105419	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	47887	14105419	235145202	86	21011											
KAZ	23254	broad.mit.edu	37	chr1	15382647	15382647	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	agcggcattccctcgccatgCcgggcgagacggtgctcaat	7	7	13	14	5	1	1	1	0	0	1	3	2	2	1	3	3	3	2	3	3	1	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:15382647C>T	ENST00000376030.2	+	5	1081	c.787C>T	c.(787-789)Ccg>Tcg	p.P263S	KAZN_ENST00000361144.5_Missense_Mutation_p.P257S|KAZN_ENST00000400797.3_Missense_Mutation_p.P169S|KAZN_ENST00000503743.1_Missense_Mutation_p.P263S|KAZN_ENST00000400798.2_Missense_Mutation_p.P169S|KAZN_ENST00000422387.2_Missense_Mutation_p.P263S	NM_201628.2	NP_963922.2	Q674X7	KAZRN_HUMAN	kazrin, periplakin interacting protein	263	Interaction with PPL.				keratinization (GO:0031424)	cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|desmosome (GO:0030057)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(6)|ovary(1)|prostate(2)	25						CCTCGCCATGCCGGGCGAGAC	0.597																																						ENST00000376030.2																			0				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(6)|ovary(1)|prostate(2)	25						c.(787-789)Ccg>Tcg		kazrin, periplakin interacting protein							74	71	72					1																	15382647		2203	4300	6503	SO:0001583	missense	23254				keratinization	cornified envelope|cytoplasm|desmosome|nucleus		g.chr1:15382647C>T	AY505119	CCDS30604.1, CCDS41267.1, CCDS152.2, CCDS41268.1	1p36.21	2014-02-12	2011-01-31		ENSG00000189337	ENSG00000189337		"Sterile alpha motif (SAM) domain containing"	29173	protein-coding gene	gene with protein product						15337775, 18840647	Standard	NM_015209		Approved	KIAA1026, KAZRIN, FLJ43806	uc001avm.4	Q674X7	OTTHUMG00000002042	ENST00000376030.2:c.787C>T	1.37:g.15382647C>T	ENSP00000365198:p.Pro263Ser					KAZN_ENST00000361144.5_Missense_Mutation_p.P257S|KAZN_ENST00000422387.2_Missense_Mutation_p.P263S|KAZN_ENST00000400797.3_Missense_Mutation_p.P169S|KAZN_ENST00000400798.2_Missense_Mutation_p.P169S|KAZN_ENST00000503743.1_Missense_Mutation_p.P263S	p.P263S	NM_201628.2	NP_963922.2	Q674X7	KAZRN_HUMAN			5	1081	+			263			Interaction with PPL.		B0QYQ0|B1AK78|Q5TGF1|Q674X4|Q674X6|Q6ZUD1|Q8IYN7|Q8N409|Q9UIL2|Q9UPX4	Missense_Mutation	SNP	ENST00000376030.2	37	c.787C>T	CCDS152.2	.	.	.	.	.	.	.	.	.	.	C	16.09	3.024821	0.54683	.	.	ENSG00000189337	ENST00000376030;ENST00000503743;ENST00000422387;ENST00000361144;ENST00000400798;ENST00000400797	T;T;T;T;T;T	0.50001	0.76;0.76;0.76;0.76;0.76;0.76	5.68	5.68	0.88126	.	0.050756	0.85682	D	0.000000	T	0.46870	0.1415	L	0.34521	1.04	0.80722	D	1	P;P;P;D	0.56521	0.617;0.51;0.51;0.976	B;B;B;P	0.49922	0.242;0.154;0.154;0.626	T	0.18935	-1.0321	10	0.14252	T	0.57	-36.8255	18.8336	0.92151	0.0:1.0:0.0:0.0	.	263;169;257;263	Q674X7-2;Q674X7-4;Q674X7-3;Q674X7	.;.;.;KAZRN_HUMAN	S	263;263;263;257;169;169	ENSP00000365198:P263S;ENSP00000426015:P263S;ENSP00000391728:P263S;ENSP00000354727:P257S;ENSP00000383602:P169S;ENSP00000383601:P169S	ENSP00000354727:P257S	P	+	1	0	KAZN	15255234	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.202000	0.77856	2.695000	0.91970	0.555000	0.69702	CCG		0.597	KAZN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005690.2	NM_001017999		4	37	0	0	0	1	0	4	37					T	15382647	C	T	15382647	3	4	435	1	0	0	0	0	1	0	0	0	7988	739	26	3	1017	3	KAZ	1	15382647	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	1277228	15382647	233867974	87	21012											
EFHD2	79180	broad.mit.edu	37	chr1	15736730	15736730	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccctacaccgagttcaaggAgttctccaggaagcagatca	12	7	9	13	1	3	1	2	0	1	1	4	4	3	3	4	2	2	3	4	2	3	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:15736730A>G	ENST00000375980.4	+	1	340	c.263A>G	c.(262-264)gAg>gGg	p.E88G	RP3-467K16.4_ENST00000427824.1_lincRNA	NM_024329.5	NP_077305.2	Q96C19	EFHD2_HUMAN	EF-hand domain family, member D2	88						membrane (GO:0016020)	calcium ion binding (GO:0005509)			large_intestine(1)|skin(1)	2		Renal(390;0.00145)|Breast(348;0.00173)|Colorectal(325;0.00215)|all_lung(284;0.00366)|Lung NSC(340;0.00395)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)|Hepatocellular(190;0.152)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.59e-07)|COAD - Colon adenocarcinoma(227;3.79e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000119)|KIRC - Kidney renal clear cell carcinoma(229;0.00251)|STAD - Stomach adenocarcinoma(313;0.00727)|READ - Rectum adenocarcinoma(331;0.0649)		GAGTTCAAGGAGTTCTCCAGG	0.682																																						ENST00000375980.4																			0				large_intestine(1)|skin(1)	2						c.(262-264)gAg>gGg		EF-hand domain family, member D2							37	43	41					1																	15736730		2203	4298	6501	SO:0001583	missense	79180					membrane raft		g.chr1:15736730A>G	BC014923	CCDS155.1	1p36	2014-07-01	2005-01-25		ENSG00000142634	ENSG00000142634		"EF-hand domain containing"	28670	protein-coding gene	gene with protein product	"swiprosin-1"		"EF hand domain containing 2"			21244694	Standard	NM_024329		Approved	MGC4342	uc001awh.2	Q96C19	OTTHUMG00000002254	ENST00000375980.4:c.263A>G	1.37:g.15736730A>G	ENSP00000365147:p.Glu88Gly						p.E88G	NM_024329.5	NP_077305.2	Q96C19	EFHD2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.59e-07)|COAD - Colon adenocarcinoma(227;3.79e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000119)|KIRC - Kidney renal clear cell carcinoma(229;0.00251)|STAD - Stomach adenocarcinoma(313;0.00727)|READ - Rectum adenocarcinoma(331;0.0649)	1	340	+		Renal(390;0.00145)|Breast(348;0.00173)|Colorectal(325;0.00215)|all_lung(284;0.00366)|Lung NSC(340;0.00395)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)|Hepatocellular(190;0.152)	88					Q5JYW9	Missense_Mutation	SNP	ENST00000375980.4	37	c.263A>G	CCDS155.1	.	.	.	.	.	.	.	.	.	.	A	21.4	4.145595	0.77888	.	.	ENSG00000142634	ENST00000375980	T	0.54279	0.58	3.47	3.47	0.39725	EF-hand-like domain (1);	0.205798	0.31721	U	0.007161	T	0.61602	0.2360	M	0.75447	2.3	0.80722	D	1	P	0.51537	0.946	P	0.52957	0.714	T	0.66578	-0.5888	10	0.87932	D	0	-20.5699	9.9303	0.41519	1.0:0.0:0.0:0.0	.	88	Q96C19	EFHD2_HUMAN	G	88	ENSP00000365147:E88G	ENSP00000365147:E88G	E	+	2	0	EFHD2	15609317	1.000000	0.71417	1.000000	0.80357	0.583000	0.36354	7.884000	0.87274	1.431000	0.47355	0.164000	0.16699	GAG		0.682	EFHD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006433.1	NM_024329		11	14	0	0	0	1	0	11	14					G	15736730	A	G	15736730	3	3	435	1	0	0	0	0	1	0	0	0	4949	304	11	4	265	4	EFHD2	1	15736730	Missense_Mutation	SNP	A	TCGA-XK-AAIW-01A-11D-A41K-08	354083	15736730	233513891	88	21013											
CELA2A	63036	broad.mit.edu	37	chr1	15783259	15783259	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggacacaccatgataaggaCgctgctgctgtccactttgg	9	9	11	12	2	0	1	0	1	0	0	1	3	1	3	2	3	2	3	2	3	1	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:15783259C>T	ENST00000359621.4	+	1	36	c.11C>T	c.(10-12)aCg>aTg	p.T4M	CELA2A_ENST00000497590.1_3'UTR	NM_033440.2	NP_254275.1	P08217	CEL2A_HUMAN	chymotrypsin-like elastase family, member 2A	4						extracellular region (GO:0005576)|keratohyalin granule (GO:0036457)	serine hydrolase activity (GO:0017171)|serine-type endopeptidase activity (GO:0004252)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(7)|ovary(2)|prostate(1)	16						ATGATAAGGACGCTGCTGCTG	0.542																																						ENST00000359621.4																			0				central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(7)|ovary(2)|prostate(1)	16						c.(10-12)aCg>aTg		chymotrypsin-like elastase family, member 2A							129	109	116					1																	15783259		2203	4300	6503	SO:0001583	missense	63036				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr1:15783259C>T		CCDS157.1	1p36.21	2009-07-09			ENSG00000142615	ENSG00000142615	3.4.21.71		24609	protein-coding gene	gene with protein product	"elastase 2A"	609443				3646943, 2834346	Standard	NM_033440		Approved	ELA2A	uc001awk.3	P08217	OTTHUMG00000002258	ENST00000359621.4:c.11C>T	1.37:g.15783259C>T	ENSP00000352639:p.Thr4Met					CELA2A_ENST00000497590.1_3'UTR	p.T4M	NM_033440.2	NP_254275.1	P08217	CEL2A_HUMAN			1	36	+			4					B2R5I4|Q14243	Missense_Mutation	SNP	ENST00000359621.4	37	c.11C>T	CCDS157.1	.	.	.	.	.	.	.	.	.	.	C	9.962	1.223032	0.22457	.	.	ENSG00000142615	ENST00000375924;ENST00000359621	D	0.88124	-2.34	4.13	-0.695	0.11291	.	1.451420	0.05067	U	0.481049	T	0.77398	0.4124	N	0.21373	0.66	0.09310	N	1	P	0.46987	0.888	B	0.39503	0.301	T	0.68228	-0.5464	10	0.48119	T	0.1	.	6.7951	0.23721	0.0:0.3873:0.0:0.6127	.	4	P08217	CEL2A_HUMAN	M	4	ENSP00000352639:T4M	ENSP00000352639:T4M	T	+	2	0	CELA2A	15655846	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-0.051000	0.11885	-0.008000	0.14320	-0.156000	0.13503	ACG		0.542	CELA2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006445.1	NM_033440		20	22	0	0	0	1	0	20	22					T	15783259	C	T	15783259	3	4	435	1	0	0	0	0	1	0	0	0	3211	536	19	1	13	1	CELA2A	1	15783259	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	46529	15783259	233467362	89	21014											
CELA2B	51032	broad.mit.edu	37	chr1	15813853	15813853	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcatggcatcggcagcctcaCgtcggtccttggttgcaact	6	10	12	13	3	1	0	1	0	0	0	4	0	2	0	2	4	3	5	2	4	1	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:15813853C>T	ENST00000375910.3	+	7	738	c.713C>T	c.(712-714)aCg>aTg	p.T238M		NM_015849.2	NP_056933	P08218	CEL2B_HUMAN	chymotrypsin-like elastase family, member 2B	238	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)			breast(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)	8						GGCAGCCTCACGTCGGTCCTT	0.587																																						ENST00000375910.3																			0				breast(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)	8						c.(712-714)aCg>aTg		chymotrypsin-like elastase family, member 2B							123	117	119					1																	15813853		2203	4300	6503	SO:0001583	missense	51032				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr1:15813853C>T		CCDS30605.1	1p36.21	2009-07-09			ENSG00000215704	ENSG00000215704			29995	protein-coding gene	gene with protein product	"pancreatic elastase IIB"	609444				3646943, 16327289	Standard	NM_015849		Approved	RP11-265F14.2, ELA2B	uc001awl.3	P08218	OTTHUMG00000002259	ENST00000375910.3:c.713C>T	1.37:g.15813853C>T	ENSP00000365075:p.Thr238Met						p.T238M	NM_015849.2	NP_056933.2	P08218	CEL2B_HUMAN			7	738	+			238			Peptidase S1.		Q14D16|Q6ISM5|Q96QV5	Missense_Mutation	SNP	ENST00000375910.3	37	c.713C>T	CCDS30605.1	.	.	.	.	.	.	.	.	.	.	C	10.27	1.304098	0.23736	.	.	ENSG00000215704	ENST00000375910	D	0.93019	-3.15	4.77	2.85	0.33270	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.206170	0.32328	U	0.006251	D	0.90459	0.7012	L	0.38175	1.15	0.09310	N	0.999998	P	0.42735	0.788	P	0.46940	0.532	D	0.83486	0.0067	10	0.56958	D	0.05	.	9.4838	0.38917	0.0:0.188:0.6703:0.1417	.	238	P08218	CEL2B_HUMAN	M	238	ENSP00000365075:T238M	ENSP00000365075:T238M	T	+	2	0	CELA2B	15686440	1.000000	0.71417	0.122000	0.21767	0.002000	0.02628	1.518000	0.35877	0.490000	0.27771	-0.241000	0.12123	ACG		0.587	CELA2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006448.1	NM_015849		42	31	0	0	0	1	0	42	31					T	15813853	C	T	15813853	3	4	435	1	0	0	0	0	1	0	0	0	3212	536	19	1	739	1	CELA2B	1	15813853	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	30594	15813853	233436768	90	21015											
CELA2B	51032	broad.mit.edu	37	chr1	15813898	15813898	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctacaagccctccatcttcaCgcgggtctccaactacaacg	10	8	6	17	3	3	0	1	0	2	0	5	0	4	0	3	1	5	0	3	1	5	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:15813898C>T	ENST00000375910.3	+	7	783	c.758C>T	c.(757-759)aCg>aTg	p.T253M		NM_015849.2	NP_056933	P08218	CEL2B_HUMAN	chymotrypsin-like elastase family, member 2B	253	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)			breast(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)	8						TCCATCTTCACGCGGGTCTCC	0.597																																						ENST00000375910.3																			0				breast(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)	8						c.(757-759)aCg>aTg		chymotrypsin-like elastase family, member 2B							145	137	140					1																	15813898		2203	4300	6503	SO:0001583	missense	51032				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr1:15813898C>T		CCDS30605.1	1p36.21	2009-07-09			ENSG00000215704	ENSG00000215704			29995	protein-coding gene	gene with protein product	"pancreatic elastase IIB"	609444				3646943, 16327289	Standard	NM_015849		Approved	RP11-265F14.2, ELA2B	uc001awl.3	P08218	OTTHUMG00000002259	ENST00000375910.3:c.758C>T	1.37:g.15813898C>T	ENSP00000365075:p.Thr253Met						p.T253M	NM_015849.2	NP_056933.2	P08218	CEL2B_HUMAN			7	783	+			253			Peptidase S1.		Q14D16|Q6ISM5|Q96QV5	Missense_Mutation	SNP	ENST00000375910.3	37	c.758C>T	CCDS30605.1	.	.	.	.	.	.	.	.	.	.	C	16.49	3.138867	0.56936	.	.	ENSG00000215704	ENST00000375910	D	0.95205	-3.64	4.62	4.62	0.57501	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.105878	0.40728	U	0.001028	D	0.96950	0.9004	M	0.77313	2.365	0.51012	D	0.999909	D	0.89917	1.0	D	0.97110	1.0	D	0.97590	1.0116	10	0.87932	D	0	.	15.3006	0.73949	0.0:1.0:0.0:0.0	.	253	P08218	CEL2B_HUMAN	M	253	ENSP00000365075:T253M	ENSP00000365075:T253M	T	+	2	0	CELA2B	15686485	1.000000	0.71417	0.979000	0.43373	0.123000	0.20343	5.743000	0.68655	2.249000	0.74217	0.603000	0.83216	ACG		0.597	CELA2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006448.1	NM_015849		39	56	0	0	0	1	0	39	56					T	15813898	C	T	15813898	3	4	435	1	0	0	0	0	1	0	0	0	3212	536	19	1	784	1	CELA2B	1	15813898	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	45	15813898	233436723	91	21016											
CASP9	842	broad.mit.edu	37	chr1	15844776	15844776	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cagaaacgaagccagcatgtCctggcctgtgtcctctaagc	10	8	10	13	1	1	1	0	0	1	1	3	2	3	1	4	1	4	1	4	1	3	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:15844776C>A	ENST00000333868.5	-	2	341	c.247G>T	c.(247-249)Gac>Tac	p.D83Y	CASP9_ENST00000469637.1_5'UTR|CASP9_ENST00000375890.4_5'UTR|CASP9_ENST00000546424.1_Missense_Mutation_p.D83Y|CASP9_ENST00000348549.5_Missense_Mutation_p.D83Y	NM_001229.3	NP_001220.2	P55211	CASP9_HUMAN	caspase 9, apoptosis-related cysteine peptidase	83	CARD. {ECO:0000255|PROSITE- ProRule:PRU00046}.				activation of cysteine-type endopeptidase activity involved in apoptotic process by cytochrome c (GO:0008635)|aging (GO:0007568)|apoptotic process (GO:0006915)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glial cell apoptotic process (GO:0034349)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet formation (GO:0030220)|positive regulation of apoptotic process (GO:0043065)|positive regulation of neuron apoptotic process (GO:0043525)|regulation of apoptotic process (GO:0042981)|regulation of response to DNA damage stimulus (GO:2001020)|response to antibiotic (GO:0046677)|response to cobalt ion (GO:0032025)|response to estradiol (GO:0032355)|response to lipopolysaccharide (GO:0032496)|signal transduction in response to DNA damage (GO:0042770)	apoptosome (GO:0043293)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|enzyme activator activity (GO:0008047)|peptidase activity (GO:0008233)|protein kinase binding (GO:0019901)|SH3 domain binding (GO:0017124)			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|stomach(1)	18		Breast(348;0.000207)|all_lung(284;0.000211)|Colorectal(325;0.000259)|Lung NSC(340;0.000269)|Renal(390;0.000518)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;8.49e-07)|COAD - Colon adenocarcinoma(227;4.36e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00013)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00763)|READ - Rectum adenocarcinoma(331;0.0655)		GCCAGCATGTCCTGGCCTGTG	0.537																																						ENST00000546424.1																			0				central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|stomach(1)	18						c.(247-249)Gac>Tac		caspase 9, apoptosis-related cysteine peptidase							99	89	93					1																	15844776		2203	4300	6503	SO:0001583	missense	842				activation of caspase activity by cytochrome c|induction of apoptosis by intracellular signals|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling	cytosol	cysteine-type endopeptidase activity|enzyme activator activity|protein binding	g.chr1:15844776C>A	U60521	CCDS158.1, CCDS159.1, CCDS159.2, CCDS59995.1	1p36.21	2012-04-17	2005-08-17		ENSG00000132906	ENSG00000132906		"Caspases", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	1511	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 56"	602234	"caspase 9, apoptosis-related cysteine protease"			8663294, 9390557	Standard	NM_001229		Approved	MCH6, ICE-LAP6, APAF-3, PPP1R56	uc001awn.4	P55211	OTTHUMG00000002256	ENST00000333868.5:c.247G>T	1.37:g.15844776C>A	ENSP00000330237:p.Asp83Tyr					CASP9_ENST00000333868.5_Missense_Mutation_p.D83Y|CASP9_ENST00000348549.5_Missense_Mutation_p.D83Y|CASP9_ENST00000375890.4_5'UTR|CASP9_ENST00000469637.1_5'UTR	p.D83Y			P55211	CASP9_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;8.49e-07)|COAD - Colon adenocarcinoma(227;4.36e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00013)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00763)|READ - Rectum adenocarcinoma(331;0.0655)	2	491	-		Breast(348;0.000207)|all_lung(284;0.000211)|Colorectal(325;0.000259)|Lung NSC(340;0.000269)|Renal(390;0.000518)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)	83			CARD.		B4E1A3|O95348|Q53Y70|Q5JRU9|Q5UGI1|Q92852|Q9BQ62|Q9UEQ3|Q9UIJ8	Missense_Mutation	SNP	ENST00000333868.5	37	c.247G>T	CCDS158.1	.	.	.	.	.	.	.	.	.	.	C	12.67	2.007819	0.35415	.	.	ENSG00000132906	ENST00000546424;ENST00000333868;ENST00000348549;ENST00000440484	T;T;T;T	0.20738	2.05;2.05;2.05;2.05	5.5	-5.13	0.02884	DEATH-like (2);Caspase Recruitment (3);	0.910902	0.09759	N	0.759579	T	0.10594	0.0259	L	0.31926	0.97	0.26165	N	0.979946	B;B;B	0.14805	0.001;0.011;0.009	B;B;B	0.20184	0.003;0.022;0.028	T	0.37776	-0.9691	10	0.23302	T	0.38	.	1.5868	0.02646	0.2121:0.1751:0.3861:0.2267	.	83;83;83	P55211-2;P55211;F8VVS7	.;CASP9_HUMAN;.	Y	83	ENSP00000449584:D83Y;ENSP00000330237:D83Y;ENSP00000255256:D83Y;ENSP00000411304:D83Y	ENSP00000330237:D83Y	D	-	1	0	CASP9	15717363	0.000000	0.05858	0.050000	0.19076	0.276000	0.26787	-1.967000	0.01508	-0.485000	0.06754	-0.261000	0.10672	GAC		0.537	CASP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006438.1	NM_032996		25	41	1	0	6.32553e-13	1	6.85852e-13	25	41					A	15844776	C	A	15844776	3	1	435	1	0	0	0	0	1	0	0	0	2679	855	30	5	1035	5	CASP9	1	15844776	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	30878	15844776	233405845	92	21017											
RSC1A1	6248	broad.mit.edu	37	chr1	15987989	15987989	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgaaaccagagaaaatgtCtgtcctgatgcttcgaggcc	11	9	10	11	1	1	3	0	2	1	1	3	5	2	3	4	1	2	1	4	1	3	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:15987989C>A	ENST00000345034.1	+	1	1626	c.1626C>A	c.(1624-1626)gtC>gtA	p.V542V	DDI2_ENST00000480945.1_3'UTR	NM_006511.1	NP_006502.1	Q92681	RSCA1_HUMAN	regulatory solute carrier protein, family 1, member 1	542					intestinal absorption (GO:0050892)|negative regulation of transport (GO:0051051)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|transport (GO:0006810)	brush border (GO:0005903)|cell junction (GO:0030054)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ion channel inhibitor activity (GO:0008200)			kidney(1)|large_intestine(3)|lung(6)|ovary(1)	11		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00276)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.73e-07)|COAD - Colon adenocarcinoma(227;3.49e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000114)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GAGAAAATGTCTGTCCTGATG	0.428																																						ENST00000345034.1																			0				kidney(1)|large_intestine(3)|lung(6)|ovary(1)	11						c.(1624-1626)gtC>gtA		regulatory solute carrier protein, family 1, member 1							162	133	143					1																	15987989		2203	4300	6503	SO:0001819	synonymous_variant	6248				negative regulation of transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transport	cell junction|Golgi apparatus|nucleus	ion channel inhibitor activity	g.chr1:15987989C>A	BN000122, X82877	CCDS161.1	1p36.1	1998-08-25			ENSG00000215695	ENSG00000215695			10458	protein-coding gene	gene with protein product		601966					Standard	NM_006511		Approved	RS1	uc010obn.2	Q92681	OTTHUMG00000067830	ENST00000345034.1:c.1626C>A	1.37:g.15987989C>A						DDI2_ENST00000480945.1_3'UTR	p.V542V	NM_006511.1	NP_006502.1	Q92681	RSCA1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.73e-07)|COAD - Colon adenocarcinoma(227;3.49e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000114)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)	1	1626	+		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00276)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)	542					B2RBP5	Silent	SNP	ENST00000345034.1	37	c.1626C>A	CCDS161.1																																																																																				0.428	RSC1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000145500.1	NM_006511		57	72	1	0	1.77205e-36	1	1.98959e-36	57	72					A	15987989	C	A	15987989	2	1	435	1	0	0	0	0	0	0	0	1	13698	900	32	5		5	RSC1A1	1	15987989	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	143213	15987989	233262632	93	21018											
PLEKHM2	23207	broad.mit.edu	37	chr1	16046306	16046306	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctgctggactttgaagaccgCcttcccagctcggtccacgg	6	9	11	15	3	0	2	0	1	0	1	3	3	2	3	4	3	2	2	4	3	1	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:16046306C>T	ENST00000375799.3	+	6	770	c.543C>T	c.(541-543)cgC>cgT	p.R181R	PLEKHM2_ENST00000375793.2_Silent_p.R181R|RP11-288I21.1_ENST00000453804.1_RNA	NM_015164.2	NP_055979.2	Q8IWE5	PKHM2_HUMAN	pleckstrin homology domain containing, family M (with RUN domain) member 2	181	Interaction with KIF5B.				Golgi organization (GO:0007030)	cytoplasm (GO:0005737)	kinesin binding (GO:0019894)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	12		Colorectal(325;0.000259)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00057)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.18e-07)|COAD - Colon adenocarcinoma(227;4.5e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00774)|READ - Rectum adenocarcinoma(331;0.0657)		TTGAAGACCGCCTTCCCAGCT	0.577																																						ENST00000375799.3																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	12						c.(541-543)cgC>cgT		pleckstrin homology domain containing, family M (with RUN domain) member 2							98	97	98					1																	16046306		2003	4174	6177	SO:0001819	synonymous_variant	23207				Golgi organization	cytoplasm	kinesin binding	g.chr1:16046306C>T	AB020649	CCDS44063.1	1p36.13	2013-01-10			ENSG00000116786	ENSG00000116786		"Pleckstrin homology (PH) domain containing"	29131	protein-coding gene	gene with protein product		609613				10048485	Standard	NM_015164		Approved	KIAA0842	uc010obo.2	Q8IWE5	OTTHUMG00000003062	ENST00000375799.3:c.543C>T	1.37:g.16046306C>T						PLEKHM2_ENST00000375793.2_Silent_p.R181R	p.R181R	NM_015164.2	NP_055979.2	Q8IWE5	PKHM2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.18e-07)|COAD - Colon adenocarcinoma(227;4.5e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00774)|READ - Rectum adenocarcinoma(331;0.0657)	6	770	+		Colorectal(325;0.000259)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00057)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)	181			Interaction with KIF5B.		O94928|Q5VT65|Q6NUH9|Q7L8G1|Q8IVT7|Q8N2T4|Q96AY0|Q9NTF7	Silent	SNP	ENST00000375799.3	37	c.543C>T	CCDS44063.1																																																																																				0.577	PLEKHM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008463.1	NM_015164		19	35	0	0	0	1	0	19	35					T	16046306	C	T	16046306	2	4	435	1	0	0	0	0	0	0	0	1	12081	726	26	3		3	PLEKHM2	1	16046306	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	58317	16046306	233204315	94	21019											
PLEKHM2	23207	broad.mit.edu	37	chr1	16053821	16053821	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aaggttatcgaccagctcaaCgggcagctggaccccagcac	11	5	11	14	2	1	0	1	0	0	0	2	2	1	1	3	3	4	5	3	3	3	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:16053821C>T	ENST00000375799.3	+	9	1481	c.1254C>T	c.(1252-1254)aaC>aaT	p.N418N	PLEKHM2_ENST00000375793.2_Silent_p.N398N|RP11-288I21.1_ENST00000453804.1_RNA	NM_015164.2	NP_055979.2	Q8IWE5	PKHM2_HUMAN	pleckstrin homology domain containing, family M (with RUN domain) member 2	418					Golgi organization (GO:0007030)	cytoplasm (GO:0005737)	kinesin binding (GO:0019894)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	12		Colorectal(325;0.000259)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00057)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.18e-07)|COAD - Colon adenocarcinoma(227;4.5e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00774)|READ - Rectum adenocarcinoma(331;0.0657)		ACCAGCTCAACGGGCAGCTGG	0.682																																						ENST00000375799.3																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	12						c.(1252-1254)aaC>aaT		pleckstrin homology domain containing, family M (with RUN domain) member 2							9	11	10					1																	16053821		1914	4092	6006	SO:0001819	synonymous_variant	23207				Golgi organization	cytoplasm	kinesin binding	g.chr1:16053821C>T	AB020649	CCDS44063.1	1p36.13	2013-01-10			ENSG00000116786	ENSG00000116786		"Pleckstrin homology (PH) domain containing"	29131	protein-coding gene	gene with protein product		609613				10048485	Standard	NM_015164		Approved	KIAA0842	uc010obo.2	Q8IWE5	OTTHUMG00000003062	ENST00000375799.3:c.1254C>T	1.37:g.16053821C>T						PLEKHM2_ENST00000375793.2_Silent_p.N398N|RP11-288I21.1_ENST00000453804.1_RNA	p.N418N	NM_015164.2	NP_055979.2	Q8IWE5	PKHM2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.18e-07)|COAD - Colon adenocarcinoma(227;4.5e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00774)|READ - Rectum adenocarcinoma(331;0.0657)	9	1481	+		Colorectal(325;0.000259)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00057)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)	418					O94928|Q5VT65|Q6NUH9|Q7L8G1|Q8IVT7|Q8N2T4|Q96AY0|Q9NTF7	Silent	SNP	ENST00000375799.3	37	c.1254C>T	CCDS44063.1																																																																																				0.682	PLEKHM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008463.1	NM_015164		5	3	0	0	0	1	0	5	3					T	16053821	C	T	16053821	2	4	435	1	0	0	0	0	0	0	0	1	12081	535	19	1		1	PLEKHM2	1	16053821	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	7515	16053821	233196800	95	21020											
FBLIM1	54751	broad.mit.edu	37	chr1	16101296	16101296	+	Intron	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tggacgacttctacaggtacGagaagggtttgtgcactggg	9	10	15	7	2	1	1	0	0	1	1	1	4	1	2	0	4	3	3	0	4	3	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:16101296G>A	ENST00000375766.3	+	7	1530				FBLIM1_ENST00000332305.5_Intron|FBLIM1_ENST00000375771.1_Intron|FBLIM1_ENST00000400773.1_Intron|FBLIM1_ENST00000441801.2_Missense_Mutation_p.E299K	NM_017556.2	NP_060026.2	Q8WUP2	FBLI1_HUMAN	filamin binding LIM protein 1						cell junction assembly (GO:0034329)|regulation of cell shape (GO:0008360)|regulation of integrin activation (GO:0033623)|single organismal cell-cell adhesion (GO:0016337)	cytosol (GO:0005829)|focal adhesion (GO:0005925)|stress fiber (GO:0001725)	filamin binding (GO:0031005)|zinc ion binding (GO:0008270)			large_intestine(2)|lung(4)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	16		Colorectal(325;0.000257)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.56e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|READ - Rectum adenocarcinoma(331;0.0649)|STAD - Stomach adenocarcinoma(313;0.138)		CTACAGGTACGAGAAGGGTTT	0.612																																						ENST00000441801.2																			0				large_intestine(2)|lung(4)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	16						c.(895-897)Gag>Aag		filamin binding LIM protein 1							92	91	91					1																	16101296		2203	4300	6503	SO:0001627	intron_variant	54751				cell adhesion|cell junction assembly|regulation of cell shape	cell cortex|cytoskeleton|cytosol|focal adhesion|intracellular membrane-bounded organelle	zinc ion binding	g.chr1:16101296G>A		CCDS163.1, CCDS30609.1, CCDS44064.1	1p36.13	2014-04-07			ENSG00000162458	ENSG00000162458			24686	protein-coding gene	gene with protein product		607747				12679033, 12496242	Standard	XM_005245900		Approved	FBLP-1, CAL, migfilin	uc001axe.1	Q8WUP2	OTTHUMG00000003079	ENST00000375766.3:c.890+5G>A	1.37:g.16101296G>A						FBLIM1_ENST00000400773.1_Intron|FBLIM1_ENST00000375766.3_Intron|FBLIM1_ENST00000375771.1_Intron|FBLIM1_ENST00000332305.5_Intron	p.E299K	NM_001024215.1	NP_001019386.1	Q8WUP2	FBLI1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.56e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|READ - Rectum adenocarcinoma(331;0.0649)|STAD - Stomach adenocarcinoma(313;0.138)	6	1102	+		Colorectal(325;0.000257)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)	299			LIM zinc-binding 2.|PLEKHC1-binding.		B3KNY0|Q5VVE0|Q5VVE1|Q8IX23|Q96T00|Q9UFD6	Missense_Mutation	SNP	ENST00000375766.3	37	c.895G>A	CCDS163.1	.	.	.	.	.	.	.	.	.	.	G	11.81	1.750942	0.31046	.	.	ENSG00000162458	ENST00000441801	T	0.58358	0.34	5.06	0.848	0.18966	.	.	.	.	.	T	0.31482	0.0798	.	.	.	0.09310	N	1	P	0.36183	0.542	B	0.26770	0.073	T	0.07616	-1.0763	7	.	.	.	.	8.3482	0.32286	0.3394:0.0:0.6606:0.0	.	299	Q8WUP2-2	.	K	299	ENSP00000416387:E299K	.	E	+	1	0	FBLIM1	15973883	0.000000	0.05858	0.000000	0.03702	0.064000	0.16182	-0.018000	0.12568	0.270000	0.21984	0.655000	0.94253	GAG		0.612	FBLIM1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008511.3	NM_001024215		23	38	0	0	0	1	0	23	38					A	16101296	G	A	16101296	1	1	435	0	1	0	0	0	0	0	0	0	5697	1059	37	2		2	FBLIM1	1	16101296	Intron	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	47475	16101296	233149325	96	21021											
SPEN	23013	broad.mit.edu	37	chr1	16255500	16255500	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaacttcaggtctctcagaCggagcctgcaaaatctgact	12	9	9	11	1	4	2	2	1	2	1	5	4	4	3	1	2	3	1	1	2	3	1	rs140341054		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:16255500C>T	ENST00000375759.3	+	11	2969	c.2765C>T	c.(2764-2766)aCg>aTg	p.T922M		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	922					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription, DNA-templated (GO:0045893)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription corepressor activity (GO:0003714)			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		GTCTCTCAGACGGAGCCTGCA	0.443													C|||	1	0.000199681	0	0	5008	,	,		19899	0		0.001	False		,,,				2504	0					ENST00000375759.3																			0				NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149						c.(2764-2766)aCg>aTg		spen family transcriptional repressor		C	MET/THR	1,4405	2.1+/-5.4	0,1,2202	151	167	161		2765	2.1	0	1	dbSNP_134	161	2,8598	2.2+/-6.3	0,2,4298	yes	missense	SPEN	NM_015001.2	81	0,3,6500	TT,TC,CC		0.0233,0.0227,0.0231	possibly-damaging	922/3665	16255500	3,13003	2203	4300	6503	SO:0001583	missense	23013				interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding	g.chr1:16255500C>T		CCDS164.1	1p36	2013-10-17	2013-10-17		ENSG00000065526	ENSG00000065526		"RNA binding motif (RRM) containing"	17575	protein-coding gene	gene with protein product		613484	"SPEN homolog, transcriptional regulator (Drosophila)", "spen homolog, transcriptional regulator (Drosophila)"			10451362, 11331609	Standard	NM_015001		Approved	KIAA0929, MINT, SHARP, RBM15C	uc001axk.1	Q96T58	OTTHUMG00000009376	ENST00000375759.3:c.2765C>T	1.37:g.16255500C>T	ENSP00000364912:p.Thr922Met						p.T922M	NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)	11	2969	+		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)	922					Q9H9A8|Q9NWH5|Q9UQ01|Q9Y556	Missense_Mutation	SNP	ENST00000375759.3	37	c.2765C>T	CCDS164.1	2	9.157509157509158E-4	1	0.0020325203252032522	0	0.0	0	0.0	1	0.0013192612137203166	C	1.696	-0.502674	0.04261	2.27E-4	2.33E-4	ENSG00000065526	ENST00000375759	T	0.48522	0.81	5.2	2.12	0.27331	.	.	.	.	.	T	0.33962	0.0881	L	0.36672	1.1	0.09310	N	1	B	0.21147	0.052	B	0.12156	0.007	T	0.24261	-1.0165	9	0.48119	T	0.1	-16.108	5.4315	0.16456	0.0:0.6115:0.1425:0.246	.	922	Q96T58	MINT_HUMAN	M	922	ENSP00000364912:T922M	ENSP00000364912:T922M	T	+	2	0	SPEN	16128087	0.000000	0.05858	0.002000	0.10522	0.910000	0.53928	-0.005000	0.12855	0.265000	0.21872	0.655000	0.94253	ACG		0.443	SPEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025993.1	NM_015001		78	127	0	0	0	1	0	78	127					T	16255500	C	T	16255500	3	4	435	1	0	0	0	0	1	0	0	0	15037	536	19	1	2807	1	SPEN	1	16255500	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	154204	16255500	232995121	97	21022											
SPEN	23013	broad.mit.edu	37	chr1	16262309	16262309	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gactgcacccctatactgtgCcacgggatgtgaggatcatg	9	9	12	11	1	1	1	1	1	0	0	1	4	1	3	3	2	3	1	3	2	2	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:16262309C>T	ENST00000375759.3	+	11	9778	c.9574C>T	c.(9574-9576)Cca>Tca	p.P3192S		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	3192					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription, DNA-templated (GO:0045893)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription corepressor activity (GO:0003714)			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		CTATACTGTGCCACGGGATGT	0.602																																						ENST00000375759.3																			0				NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149						c.(9574-9576)Cca>Tca		spen family transcriptional repressor							74	67	69					1																	16262309		2203	4300	6503	SO:0001583	missense	23013				interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding	g.chr1:16262309C>T		CCDS164.1	1p36	2013-10-17	2013-10-17		ENSG00000065526	ENSG00000065526		"RNA binding motif (RRM) containing"	17575	protein-coding gene	gene with protein product		613484	"SPEN homolog, transcriptional regulator (Drosophila)", "spen homolog, transcriptional regulator (Drosophila)"			10451362, 11331609	Standard	NM_015001		Approved	KIAA0929, MINT, SHARP, RBM15C	uc001axk.1	Q96T58	OTTHUMG00000009376	ENST00000375759.3:c.9574C>T	1.37:g.16262309C>T	ENSP00000364912:p.Pro3192Ser						p.P3192S	NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)	11	9778	+		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)	3192					Q9H9A8|Q9NWH5|Q9UQ01|Q9Y556	Missense_Mutation	SNP	ENST00000375759.3	37	c.9574C>T	CCDS164.1	.	.	.	.	.	.	.	.	.	.	C	13.95	2.388678	0.42308	.	.	ENSG00000065526	ENST00000375759	T	0.09163	3.01	5.12	5.12	0.69794	.	.	.	.	.	T	0.25457	0.0619	L	0.50919	1.6	0.42919	D	0.994284	D	0.59357	0.985	P	0.61201	0.885	T	0.00928	-1.1511	9	0.27785	T	0.31	-12.3551	18.6276	0.91347	0.0:1.0:0.0:0.0	.	3192	Q96T58	MINT_HUMAN	S	3192	ENSP00000364912:P3192S	ENSP00000364912:P3192S	P	+	1	0	SPEN	16134896	1.000000	0.71417	1.000000	0.80357	0.604000	0.37047	3.905000	0.56333	2.386000	0.81285	0.650000	0.86243	CCA		0.602	SPEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025993.1	NM_015001		8	47	0	0	0	1	0	8	47					T	16262309	C	T	16262309	3	4	435	1	0	0	0	0	1	0	0	0	15037	739	26	3	9616	3	SPEN	1	16262309	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	6809	16262309	232988312	98	21023											
SPEN	23013	broad.mit.edu	37	chr1	16264445	16264445	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagggcccccactaaggatcGcccagaggatgcggctggag	9	4	16	12	2	0	1	0	0	0	1	1	5	0	4	3	5	1	1	3	5	1	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:16264445G>A	ENST00000375759.3	+	13	10852	c.10648G>A	c.(10648-10650)Gcc>Acc	p.A3550T		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	3550	SPOC. {ECO:0000255|PROSITE- ProRule:PRU00249}.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription, DNA-templated (GO:0045893)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription corepressor activity (GO:0003714)			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		ACTAAGGATCGCCCAGAGGAT	0.622																																						ENST00000375759.3																			0				NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149						c.(10648-10650)Gcc>Acc		spen family transcriptional repressor							63	61	62					1																	16264445		2203	4300	6503	SO:0001583	missense	23013				interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding	g.chr1:16264445G>A		CCDS164.1	1p36	2013-10-17	2013-10-17		ENSG00000065526	ENSG00000065526		"RNA binding motif (RRM) containing"	17575	protein-coding gene	gene with protein product		613484	"SPEN homolog, transcriptional regulator (Drosophila)", "spen homolog, transcriptional regulator (Drosophila)"			10451362, 11331609	Standard	NM_015001		Approved	KIAA0929, MINT, SHARP, RBM15C	uc001axk.1	Q96T58	OTTHUMG00000009376	ENST00000375759.3:c.10648G>A	1.37:g.16264445G>A	ENSP00000364912:p.Ala3550Thr						p.A3550T	NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)	13	10852	+		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)	3550			SPOC.		Q9H9A8|Q9NWH5|Q9UQ01|Q9Y556	Missense_Mutation	SNP	ENST00000375759.3	37	c.10648G>A	CCDS164.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.951378	0.73787	.	.	ENSG00000065526	ENST00000375759	T	0.09538	2.97	5.3	4.38	0.52667	Spen Paralogue and Orthologue SPOC, C-terminal-like (2);Spen paralogue/orthologue C-terminal, metazoa (1);Spen paralogue and orthologue SPOC, C-terminal (1);	.	.	.	.	T	0.20170	0.0485	L	0.35723	1.085	0.48975	D	0.999737	D	0.64830	0.994	D	0.65987	0.94	T	0.04767	-1.0928	9	0.12103	T	0.63	-16.9394	16.2913	0.82755	0.0:0.1328:0.8672:0.0	.	3550	Q96T58	MINT_HUMAN	T	3550	ENSP00000364912:A3550T	ENSP00000364912:A3550T	A	+	1	0	SPEN	16137032	1.000000	0.71417	0.999000	0.59377	0.992000	0.81027	9.358000	0.97109	1.347000	0.45714	0.655000	0.94253	GCC		0.622	SPEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025993.1	NM_015001		15	24	0	0	0	1	0	15	24					A	16264445	G	A	16264445	3	1	435	1	0	0	0	0	1	0	0	0	15037	1087	38	1	10698	1	SPEN	1	16264445	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	2136	16264445	232986176	99	21024											
SPEN	23013	broad.mit.edu	37	chr1	16265255	16265255	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctggctctgccctgtggcCgtgaccaagaggatgttgtg	5	11	15	10	1	1	2	0	1	1	1	1	3	1	3	3	3	2	3	3	3	1	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:16265255C>T	ENST00000375759.3	+	14	10951	c.10747C>T	c.(10747-10749)Cgt>Tgt	p.R3583C		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	3583	SPOC. {ECO:0000255|PROSITE- ProRule:PRU00249}.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription, DNA-templated (GO:0045893)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription corepressor activity (GO:0003714)			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		GCCCTGTGGCCGTGACCAAGA	0.597																																						ENST00000375759.3																			0				NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149						c.(10747-10749)Cgt>Tgt		spen family transcriptional repressor							72	56	61					1																	16265255		2203	4300	6503	SO:0001583	missense	23013				interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding	g.chr1:16265255C>T		CCDS164.1	1p36	2013-10-17	2013-10-17		ENSG00000065526	ENSG00000065526		"RNA binding motif (RRM) containing"	17575	protein-coding gene	gene with protein product		613484	"SPEN homolog, transcriptional regulator (Drosophila)", "spen homolog, transcriptional regulator (Drosophila)"			10451362, 11331609	Standard	NM_015001		Approved	KIAA0929, MINT, SHARP, RBM15C	uc001axk.1	Q96T58	OTTHUMG00000009376	ENST00000375759.3:c.10747C>T	1.37:g.16265255C>T	ENSP00000364912:p.Arg3583Cys						p.R3583C	NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)	14	10951	+		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)	3583			SPOC.		Q9H9A8|Q9NWH5|Q9UQ01|Q9Y556	Missense_Mutation	SNP	ENST00000375759.3	37	c.10747C>T	CCDS164.1	.	.	.	.	.	.	.	.	.	.	C	14.78	2.638059	0.47153	.	.	ENSG00000065526	ENST00000375759	T	0.10960	2.82	5.41	4.49	0.54785	Spen Paralogue and Orthologue SPOC, C-terminal-like (2);Spen paralogue/orthologue C-terminal, metazoa (1);Spen paralogue and orthologue SPOC, C-terminal (1);	.	.	.	.	T	0.34832	0.0911	M	0.78223	2.4	0.58432	D	0.999993	D	0.76494	0.999	D	0.80764	0.994	T	0.22836	-1.0205	9	0.62326	D	0.03	-11.3053	16.1671	0.81777	0.0:0.8663:0.1337:0.0	.	3583	Q96T58	MINT_HUMAN	C	3583	ENSP00000364912:R3583C	ENSP00000364912:R3583C	R	+	1	0	SPEN	16137842	1.000000	0.71417	0.990000	0.47175	0.994000	0.84299	4.497000	0.60367	1.259000	0.44117	0.655000	0.94253	CGT		0.597	SPEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025993.1	NM_015001		9	22	0	0	0	1	0	9	22					T	16265255	C	T	16265255	3	4	435	1	0	0	0	0	1	0	0	0	15037	652	23	2	10801	2	SPEN	1	16265255	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	810	16265255	232985366	100	21025											
ZBTB17	7709	broad.mit.edu	37	chr1	16269097	16269097	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atgtcatccacagtgaccacGctgacctcactgccctcctc	8	9	6	18	1	2	2	2	2	0	0	5	2	4	2	5	0	1	1	5	0	0	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:16269097G>A	ENST00000375743.4	-	14	2197	c.1965C>T	c.(1963-1965)agC>agT	p.S655S	ZBTB17_ENST00000537142.1_Silent_p.S573S|ZBTB17_ENST00000375733.2_Silent_p.S655S	NM_003443.2	NP_003434.2	Q13105	ZBT17_HUMAN	zinc finger and BTB domain containing 17	655	Interaction with HCFC1.|Interaction with MYC.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|ectoderm development (GO:0007398)|endoplasmic reticulum unfolded protein response (GO:0030968)|gastrulation with mouth forming second (GO:0001702)|negative regulation of cell cycle (GO:0045786)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(4)|large_intestine(1)|lung(4)|ovary(2)|prostate(2)	15		Colorectal(325;0.000257)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|Colorectal(212;4.12e-07)|COAD - Colon adenocarcinoma(227;2.43e-05)|BRCA - Breast invasive adenocarcinoma(304;9.97e-05)|Kidney(64;0.000182)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0649)		CAGTGACCACGCTGACCTCAC	0.637																																						ENST00000375733.2																			0				breast(2)|endometrium(4)|large_intestine(1)|lung(4)|ovary(2)|prostate(2)	15						c.(1963-1965)agC>agT		zinc finger and BTB domain containing 17							80	65	70					1																	16269097		2203	4300	6503	SO:0001819	synonymous_variant	7709				negative regulation of cell cycle	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr1:16269097G>A	U20647	CCDS165.1, CCDS55576.1, CCDS72712.1	1p36.13	2013-01-08	2004-07-16	2004-07-16	ENSG00000116809	ENSG00000116809		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	12936	protein-coding gene	gene with protein product		604084	"zinc finger protein 151 (pHZ-67)", "zinc finger protein 60"	ZNF151, ZNF60			Standard	NM_003443		Approved	MIZ1, pHZ-67	uc001axl.4	Q13105	OTTHUMG00000009377	ENST00000375743.4:c.1965C>T	1.37:g.16269097G>A						ZBTB17_ENST00000375743.4_Silent_p.S655S|ZBTB17_ENST00000537142.1_Silent_p.S573S	p.S655S			Q13105	ZBT17_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|Colorectal(212;4.12e-07)|COAD - Colon adenocarcinoma(227;2.43e-05)|BRCA - Breast invasive adenocarcinoma(304;9.97e-05)|Kidney(64;0.000182)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0649)	14	2203	-		Colorectal(325;0.000257)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)	655			Interaction with HCFC1.|Interaction with MYC.		A0AV07|B4DXB4|B7ZLQ9|F5H411|Q15932|Q5JYB2|Q9NUC9	Silent	SNP	ENST00000375743.4	37	c.1965C>T	CCDS165.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	8.710|8.710	0.911779|0.911779	0.17907|0.17907	.|.	.|.	ENSG00000116809|ENSG00000116809	ENST00000444358|ENST00000440560	.|.	.|.	.|.	5.19|5.19	3.31|3.31	0.37934|0.37934	.|.	.|.	.|.	.|.	.|.	T|T	0.58680|0.58680	0.2139|0.2139	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.53151|0.53151	-0.8479|-0.8479	4|4	.|.	.|.	.|.	.|.	9.0256|9.0256	0.36227|0.36227	0.2262:0.0:0.7738:0.0|0.2262:0.0:0.7738:0.0	.|.	.|.	.|.	.|.	V|C	212|55	.|.	.|.	A|R	-|-	2|1	0|0	ZBTB17|ZBTB17	16141684|16141684	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.905000|0.905000	0.53344|0.53344	1.840000|1.840000	0.39230|0.39230	0.687000|0.687000	0.31509|0.31509	0.563000|0.563000	0.77884|0.77884	GCG|CGT		0.637	ZBTB17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025998.1	NM_003443		5	29	0	0	0	1	0	5	29					A	16269097	G	A	16269097	2	1	435	1	0	0	0	0	0	0	0	1	17524	1078	38	1		1	ZBTB17	1	16269097	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	3842	16269097	232981524	101	21026											
ZBTB17	7709	broad.mit.edu	37	chr1	16272237	16272237	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cgagctctcggacaaagcggCctcagcttctgcagcagcca	9	6	11	15	3	3	0	1	0	2	0	4	2	3	1	2	2	6	4	2	2	1	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:16272237C>T	ENST00000375743.4	-	6	866	c.634G>A	c.(634-636)Gcc>Acc	p.A212T	ZBTB17_ENST00000479282.1_5'Flank|ZBTB17_ENST00000537142.1_Missense_Mutation_p.A130T|ZBTB17_ENST00000375733.2_Missense_Mutation_p.A212T|ZBTB17_ENST00000448462.2_Missense_Mutation_p.A149T	NM_003443.2	NP_003434.2	Q13105	ZBT17_HUMAN	zinc finger and BTB domain containing 17	212					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|ectoderm development (GO:0007398)|endoplasmic reticulum unfolded protein response (GO:0030968)|gastrulation with mouth forming second (GO:0001702)|negative regulation of cell cycle (GO:0045786)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(4)|large_intestine(1)|lung(4)|ovary(2)|prostate(2)	15		Colorectal(325;0.000257)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|Colorectal(212;4.12e-07)|COAD - Colon adenocarcinoma(227;2.43e-05)|BRCA - Breast invasive adenocarcinoma(304;9.97e-05)|Kidney(64;0.000182)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0649)		GACAAAGCGGCCTCAGCTTCT	0.682																																						ENST00000375733.2																			0				breast(2)|endometrium(4)|large_intestine(1)|lung(4)|ovary(2)|prostate(2)	15						c.(634-636)Gcc>Acc		zinc finger and BTB domain containing 17							30	33	32					1																	16272237		2202	4293	6495	SO:0001583	missense	7709				negative regulation of cell cycle	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr1:16272237C>T	U20647	CCDS165.1, CCDS55576.1, CCDS72712.1	1p36.13	2013-01-08	2004-07-16	2004-07-16	ENSG00000116809	ENSG00000116809		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	12936	protein-coding gene	gene with protein product		604084	"zinc finger protein 151 (pHZ-67)", "zinc finger protein 60"	ZNF151, ZNF60			Standard	NM_003443		Approved	MIZ1, pHZ-67	uc001axl.4	Q13105	OTTHUMG00000009377	ENST00000375743.4:c.634G>A	1.37:g.16272237C>T	ENSP00000364895:p.Ala212Thr					ZBTB17_ENST00000375743.4_Missense_Mutation_p.A212T|ZBTB17_ENST00000537142.1_Missense_Mutation_p.A130T|ZBTB17_ENST00000448462.2_Missense_Mutation_p.A149T	p.A212T			Q13105	ZBT17_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|Colorectal(212;4.12e-07)|COAD - Colon adenocarcinoma(227;2.43e-05)|BRCA - Breast invasive adenocarcinoma(304;9.97e-05)|Kidney(64;0.000182)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0649)	6	872	-		Colorectal(325;0.000257)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)	212					A0AV07|B4DXB4|B7ZLQ9|F5H411|Q15932|Q5JYB2|Q9NUC9	Missense_Mutation	SNP	ENST00000375743.4	37	c.634G>A	CCDS165.1	.	.	.	.	.	.	.	.	.	.	C	11.33	1.607257	0.28623	.	.	ENSG00000116809	ENST00000375743;ENST00000375733;ENST00000444654;ENST00000537142;ENST00000448462	T;T;T;T	0.12465	2.71;2.68;2.99;2.98	4.29	3.36	0.38483	.	0.628359	0.15487	N	0.259795	T	0.07098	0.0180	N	0.08118	0	0.32300	N	0.565132	P;P;B;P;P;B	0.50156	0.932;0.89;0.447;0.59;0.629;0.319	P;B;B;B;B;B	0.45310	0.476;0.393;0.261;0.261;0.309;0.093	T	0.05419	-1.0886	10	0.29301	T	0.29	.	4.6339	0.12514	0.2199:0.6685:0.0:0.1115	.	136;149;212;130;212;212	B4DYU5;E7EPQ4;Q13105-2;F5H411;B2RCP2;Q13105	.;.;.;.;.;ZBT17_HUMAN	T	212;212;131;130;149	ENSP00000364895:A212T;ENSP00000364885:A212T;ENSP00000438529:A130T;ENSP00000391002:A149T	ENSP00000364885:A212T	A	-	1	0	ZBTB17	16144824	0.000000	0.05858	0.662000	0.29724	0.173000	0.22820	-0.049000	0.11924	2.309000	0.77851	0.462000	0.41574	GCC		0.682	ZBTB17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025998.1	NM_003443		19	31	0	0	0	1	0	19	31					T	16272237	C	T	16272237	3	4	435	1	0	0	0	0	1	0	0	0	17524	739	26	3	1821	3	ZBTB17	1	16272237	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	3140	16272237	232978384	102	21027											
CLCNKA	1187	broad.mit.edu	37	chr1	16353830	16353830	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgttcagcatcgaggtcatGtcttcccacttctctgtccg	5	14	8	14	2	4	0	2	0	2	0	8	1	6	0	2	1	1	2	2	1	0	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:16353830G>A	ENST00000331433.4	+	8	700	c.681G>A	c.(679-681)atG>atA	p.M227I	CLCNKA_ENST00000439316.2_Missense_Mutation_p.M184I|CLCNKA_ENST00000375692.1_Missense_Mutation_p.M227I|CLCNKA_ENST00000464764.1_3'UTR|CLCNKA_ENST00000420078.1_Missense_Mutation_p.M227I			P51800	CLCKA_HUMAN	chloride channel, voltage-sensitive Ka	227					excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|regulation of anion transport (GO:0044070)|transmembrane transport (GO:0055085)|transport (GO:0006810)	chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	adenyl nucleotide binding (GO:0030554)|metal ion binding (GO:0046872)|voltage-gated chloride channel activity (GO:0005247)			breast(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(1)	19		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)	Niflumic Acid(DB04552)	TCGAGGTCATGTCTTCCCACT	0.642																																						ENST00000375692.1																			0				breast(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(1)	19						c.(679-681)atG>atA		chloride channel, voltage-sensitive Ka	Niflumic Acid(DB04552)						92	94	93					1																	16353830		2203	4300	6503	SO:0001583	missense	0				excretion	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity	g.chr1:16353830G>A		CCDS167.1, CCDS41269.1, CCDS57973.1	1p36	2012-09-26	2012-02-23		ENSG00000186510	ENSG00000186510		"Ion channels / Chloride channels : Voltage-sensitive"	2026	protein-coding gene	gene with protein product		602024	"chloride channel Ka"			8544406	Standard	NM_004070		Approved	hClC-Ka	uc001axu.3	P51800	OTTHUMG00000009529	ENST00000331433.4:c.681G>A	1.37:g.16353830G>A	ENSP00000332771:p.Met227Ile					CLCNKA_ENST00000464764.1_3'UTR|CLCNKA_ENST00000331433.4_Missense_Mutation_p.M227I|CLCNKA_ENST00000439316.2_Missense_Mutation_p.M184I|CLCNKA_ENST00000420078.1_Missense_Mutation_p.M227I	p.M227I			P51800	CLCKA_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)	9	809	+		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)	227					B4DPD3|E7EPH6|Q5T5P8|Q5T5Q4|Q7Z6D1|Q86VT1	Missense_Mutation	SNP	ENST00000331433.4	37	c.681G>A	CCDS167.1	.	.	.	.	.	.	.	.	.	.	G	17.90	3.500945	0.64298	.	.	ENSG00000186510	ENST00000375692;ENST00000420078;ENST00000439316;ENST00000331433	D;D;D;D	0.93953	-3.32;-3.32;-3.32;-3.32	3.02	3.02	0.34903	Chloride channel, core (2);	0.130765	0.64402	N	0.000001	D	0.92993	0.7770	L	0.49571	1.57	0.43994	D	0.996699	B;B;B	0.30361	0.277;0.277;0.277	P;P;P	0.46585	0.465;0.521;0.521	D	0.92327	0.5870	10	0.72032	D	0.01	.	9.1509	0.36962	0.0:0.0:0.7822:0.2178	.	184;227;227	E7EPH6;Q5T5Q4;P51800	.;.;CLCKA_HUMAN	I	227;227;184;227	ENSP00000364844:M227I;ENSP00000410353:M227I;ENSP00000414445:M184I;ENSP00000332771:M227I	ENSP00000332771:M227I	M	+	3	0	CLCNKA	16226417	0.990000	0.36364	1.000000	0.80357	0.976000	0.68499	1.173000	0.31920	1.674000	0.50907	0.313000	0.20887	ATG		0.642	CLCNKA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000026326.1			25	99	0	0	0	1	0	25	99					A	16353830	G	A	16353830	3	1	435	1	0	0	0	0	1	0	0	0	3469	1377	48	3	707	3	CLCNKA	1	16353830	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	81593	16353830	232896791	103	21028											
CLCNKB	1188	broad.mit.edu	37	chr1	16376334	16376334	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctctgtggcatcctgggcagCgcttacctcttctgtcagcg	4	12	11	14	2	4	0	1	0	3	0	5	0	5	0	2	2	3	3	2	2	1	2	rs565165729		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:16376334C>T	ENST00000375679.4	+	10	1002	c.891C>T	c.(889-891)agC>agT	p.S297S	CLCNKB_ENST00000375667.3_Silent_p.S128S	NM_000085.4	NP_000076.2	P51801	CLCKB_HUMAN	chloride channel, voltage-sensitive Kb	297					excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|regulation of anion transport (GO:0044070)|transmembrane transport (GO:0055085)|transport (GO:0006810)	chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	adenyl nucleotide binding (GO:0030554)|metal ion binding (GO:0046872)|voltage-gated chloride channel activity (GO:0005247)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|skin(6)|stomach(2)|urinary_tract(1)	21		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)		TCCTGGGCAGCGCTTACCTCT	0.612																																						ENST00000375679.4																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|skin(6)|stomach(2)|urinary_tract(1)	21	GRCh37	CM004242	CLCNKB	M		c.(889-891)agC>agT		chloride channel, voltage-sensitive Kb							189	174	179					1																	16376334		2203	4300	6503	SO:0001819	synonymous_variant	1188							g.chr1:16376334C>T	AK098217	CCDS168.1, CCDS57974.1	1p36	2012-09-26	2012-02-23		ENSG00000184908	ENSG00000184908		"Ion channels / Chloride channels : Voltage-sensitive"	2027	protein-coding gene	gene with protein product		602023	"chloride channel Kb"				Standard	NM_000085		Approved	hClC-Kb		P51801	OTTHUMG00000009530	ENST00000375679.4:c.891C>T	1.37:g.16376334C>T						CLCNKB_ENST00000375667.3_Silent_p.S128S	p.S297S	NM_000085.4	NP_000076.2				UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)	10	1002	+		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)						B3KUY3|Q5T5Q7|Q5T5Q8	Silent	SNP	ENST00000375679.4	37	c.891C>T	CCDS168.1																																																																																				0.612	CLCNKB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026331.1	NM_000085		65	114	0	0	0	1	0	65	114					T	16376334	C	T	16376334	2	4	435	1	0	0	0	0	0	0	0	1	3470	767	27	1		1	CLCNKB	1	16376334	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	22504	16376334	232874287	104	21029											
CLCNKB	1188	broad.mit.edu	37	chr1	16377010	16377010	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gagcccacccatcccccacaGcaagcctgtgtactccgctc	8	6	7	20	1	0	0	0	0	0	0	3	1	2	0	6	0	4	3	6	0	2	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:16377010G>A	ENST00000375679.4	+	11	1079		c.e11-1		CLCNKB_ENST00000375667.3_Splice_Site	NM_000085.4	NP_000076.2	P51801	CLCKB_HUMAN	chloride channel, voltage-sensitive Kb						excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|regulation of anion transport (GO:0044070)|transmembrane transport (GO:0055085)|transport (GO:0006810)	chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	adenyl nucleotide binding (GO:0030554)|metal ion binding (GO:0046872)|voltage-gated chloride channel activity (GO:0005247)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|skin(6)|stomach(2)|urinary_tract(1)	21		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)		ATCCCCCACAGCAAGCCTGTG	0.642																																						ENST00000375679.4																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|skin(6)|stomach(2)|urinary_tract(1)	21						c.e11-1		chloride channel, voltage-sensitive Kb							146	115	125					1																	16377010		2203	4300	6503	SO:0001630	splice_region_variant	1188							g.chr1:16377010G>A	AK098217	CCDS168.1, CCDS57974.1	1p36	2012-09-26	2012-02-23		ENSG00000184908	ENSG00000184908		"Ion channels / Chloride channels : Voltage-sensitive"	2027	protein-coding gene	gene with protein product		602023	"chloride channel Kb"				Standard	NM_000085		Approved	hClC-Kb		P51801	OTTHUMG00000009530	ENST00000375679.4:c.969-1G>A	1.37:g.16377010G>A						CLCNKB_ENST00000375667.3_Splice_Site		NM_000085.4	NP_000076.2				UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)	11	1079	+		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)						B3KUY3|Q5T5Q7|Q5T5Q8	Splice_Site	SNP	ENST00000375679.4	37		CCDS168.1	.	.	.	.	.	.	.	.	.	.	.	15.90	2.968585	0.53614	.	.	ENSG00000184908	ENST00000375679;ENST00000331579;ENST00000375667	.	.	.	4.83	4.83	0.62350	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.5174	0.84304	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CLCNKB	16249597	1.000000	0.71417	0.996000	0.52242	0.643000	0.38383	4.909000	0.63314	2.229000	0.72834	0.561000	0.74099	.		0.642	CLCNKB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026331.1	NM_000085	Intron	16	47	0	0	0	1	0	16	47					A	16377010	G	A	16377010	5	1	435	1	0	0	0	0	0	0	1	0	3470	985	34	3	1154	3	CLCNKB	1	16377010	Splice_Site	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	676	16377010	232873611	105	21030											
EPHA2	1969	broad.mit.edu	37	chr1	16461587	16461587	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctggccctcctgcgtcagtGcctgcacctggaccaggtag	5	8	12	16	1	1	0	1	0	0	0	2	1	2	1	6	3	3	2	6	3	1	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:16461587G>A	ENST00000358432.5	-	7	1680	c.1526C>T	c.(1525-1527)gCa>gTa	p.A509V		NM_004431.3	NP_004422.2	P29317	EPHA2_HUMAN	EPH receptor A2	509	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				activation of Rac GTPase activity (GO:0032863)|angiogenesis (GO:0001525)|axial mesoderm formation (GO:0048320)|bone remodeling (GO:0046849)|branching involved in mammary gland duct morphogenesis (GO:0060444)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell migration (GO:0016477)|ephrin receptor signaling pathway (GO:0048013)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|keratinocyte differentiation (GO:0030216)|lens fiber cell morphogenesis (GO:0070309)|mammary gland epithelial cell proliferation (GO:0033598)|multicellular organismal development (GO:0007275)|negative regulation of protein kinase B signaling (GO:0051898)|neural tube development (GO:0021915)|neuron differentiation (GO:0030182)|notochord cell development (GO:0060035)|notochord formation (GO:0014028)|osteoblast differentiation (GO:0001649)|osteoclast differentiation (GO:0030316)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|post-anal tail morphogenesis (GO:0036342)|protein kinase B signaling (GO:0043491)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of cell adhesion mediated by integrin (GO:0033628)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of lamellipodium assembly (GO:0010591)|response to growth factor (GO:0070848)|skeletal system development (GO:0001501)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cell projection (GO:0042995)|cell surface (GO:0009986)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|leading edge membrane (GO:0031256)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	42		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649)	Dasatinib(DB01254)|Regorafenib(DB08896)	CTGCGTCAGTGCCTGCACCTG	0.657																																						ENST00000358432.5																			0				NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	42						c.(1525-1527)gCa>gTa		EPH receptor A2	Dasatinib(DB01254)						123	129	127					1																	16461587		2203	4300	6503	SO:0001583	missense	1969				activation of Rac GTPase activity|angiogenesis|apoptosis|cell chemotaxis|negative regulation of protein kinase B signaling cascade|positive regulation of establishment of protein localization in plasma membrane|protein kinase B signaling cascade|regulation of blood vessel endothelial cell migration|regulation of cell adhesion mediated by integrin|regulation of lamellipodium assembly|response to growth factor stimulus	focal adhesion|integral to plasma membrane|lamellipodium membrane|ruffle membrane	ATP binding|ephrin receptor activity|protein binding	g.chr1:16461587G>A	BC037166	CCDS169.1	1p36	2013-02-11	2004-10-28		ENSG00000142627	ENSG00000142627	2.7.10.1	"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3386	protein-coding gene	gene with protein product		176946	"EphA2"	ECK		9119409	Standard	NM_004431		Approved		uc001aya.2	P29317	OTTHUMG00000009527	ENST00000358432.5:c.1526C>T	1.37:g.16461587G>A	ENSP00000351209:p.Ala509Val						p.A509V	NM_004431.3	NP_004422.2	P29317	EPHA2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649)	7	1680	-		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)	509			Fibronectin type-III 2.		B5A968|Q8N3Z2	Missense_Mutation	SNP	ENST00000358432.5	37	c.1526C>T	CCDS169.1	.	.	.	.	.	.	.	.	.	.	G	23.9	4.469050	0.84533	.	.	ENSG00000142627	ENST00000358432	T	0.76060	-0.99	5.4	5.4	0.78164	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.52532	D	0.000072	T	0.78013	0.4217	M	0.75615	2.305	0.80722	D	1	D	0.56035	0.974	P	0.45558	0.485	T	0.82400	-0.0476	10	0.87932	D	0	.	16.672	0.85269	0.0:0.0:1.0:0.0	.	509	P29317	EPHA2_HUMAN	V	509	ENSP00000351209:A509V	ENSP00000351209:A509V	A	-	2	0	EPHA2	16334174	1.000000	0.71417	0.995000	0.50966	0.992000	0.81027	7.754000	0.85163	2.539000	0.85634	0.655000	0.94253	GCA		0.657	EPHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026322.1	NM_004431		51	67	0	0	0	1	0	51	67					A	16461587	G	A	16461587	3	1	435	1	0	0	0	0	1	0	0	0	5167	1319	46	3	1448	3	EPHA2	1	16461587	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	84577	16461587	232789034	106	21031											
ARHGEF19	128272	broad.mit.edu	37	chr1	16534187	16534187	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacctgggctcggaccaatcGccctctcgtgagtcaccagg	7	8	11	15	3	2	1	1	1	1	0	5	2	2	2	4	3	1	1	4	3	2	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:16534187G>A	ENST00000270747.3	-	4	916	c.780C>T	c.(778-780)ggC>ggT	p.G260G	ARHGEF19_ENST00000478117.1_5'Flank	NM_153213.3	NP_694945.2	Q8IW93	ARHGJ_HUMAN	Rho guanine nucleotide exchange factor (GEF) 19	260					regulation of actin cytoskeleton organization (GO:0032956)|wound healing (GO:0042060)		GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			cervix(1)|endometrium(1)|lung(3)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	12		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|Colorectal(212;3.48e-07)|COAD - Colon adenocarcinoma(227;2.19e-05)|BRCA - Breast invasive adenocarcinoma(304;9.46e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.0117)|READ - Rectum adenocarcinoma(331;0.0649)		CGGACCAATCGCCCTCTCGTG	0.632																																						ENST00000270747.3																			0				cervix(1)|endometrium(1)|lung(3)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	12						c.(778-780)ggC>ggT		Rho guanine nucleotide exchange factor (GEF) 19							57	58	58					1																	16534187		2203	4300	6503	SO:0001819	synonymous_variant	128272				regulation of actin cytoskeleton organization	intracellular	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	g.chr1:16534187G>A	BC012982	CCDS170.1	1p36.13	2011-11-16			ENSG00000142632	ENSG00000142632		"Rho guanine nucleotide exchange factors"	26604	protein-coding gene	gene with protein product		612496				12477932	Standard	NM_153213		Approved	FLJ33962, WGEF	uc001ayc.1	Q8IW93	OTTHUMG00000002219	ENST00000270747.3:c.780C>T	1.37:g.16534187G>A						ARHGEF19_ENST00000421561.1_Silent_p.G260G	p.G260G	NM_153213.3	NP_694945.2	Q8IW93	ARHGJ_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|Colorectal(212;3.48e-07)|COAD - Colon adenocarcinoma(227;2.19e-05)|BRCA - Breast invasive adenocarcinoma(304;9.46e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.0117)|READ - Rectum adenocarcinoma(331;0.0649)	4	916	-		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)	260					A6NJ04|Q5TEV2|Q6PJQ4|Q8N244	Silent	SNP	ENST00000270747.3	37	c.780C>T	CCDS170.1																																																																																				0.632	ARHGEF19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006289.1	NM_153213		22	30	0	0	0	1	0	22	30					A	16534187	G	A	16534187	2	1	435	1	0	0	0	0	0	0	0	1	902	1074	38	1		1	ARHGEF19	1	16534187	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	72600	16534187	232716434	107	21032											
C1orf89	79363	broad.mit.edu	37	chr1	16559499	16559499	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttggctggccaaaataccacGgtggtctggatgcctgaggg	8	9	15	9	1	1	1	0	1	1	0	1	2	1	2	3	6	2	1	3	6	3	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:16559499G>A	ENST00000375599.3	-	3	698	c.279C>T	c.(277-279)acC>acT	p.T93T		NM_030907.3	NP_112169.2	Q9BU20	RSG1_HUMAN	REM2 and RAB-like small GTPase 1	93	Small GTPase-like.				cellular protein localization (GO:0034613)|cilium assembly (GO:0042384)|exocytosis (GO:0006887)|protein transport (GO:0015031)|regulation of exocytosis (GO:0017157)|regulation of vesicle fusion (GO:0031338)|small GTPase mediated signal transduction (GO:0007264)	ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)	GTP binding (GO:0005525)			large_intestine(2)|lung(2)|pancreas(1)|prostate(1)	6						AAAATACCACGGTGGTCTGGA	0.552																																						ENST00000375599.3																			0				large_intestine(2)|lung(2)|pancreas(1)|prostate(1)	6						c.(277-279)acC>acT		REM2 and RAB-like small GTPase 1							75	79	78					1																	16559499		2203	4300	6503	SO:0001819	synonymous_variant	79363				cellular protein localization|cilium assembly|exocytosis|protein transport|regulation of exocytosis|regulation of vesicle fusion|small GTPase mediated signal transduction	cilium|microtubule basal body	GTP binding	g.chr1:16559499G>A	BC008702	CCDS171.1	1p36.13	2014-02-21	2011-02-22	2011-02-22	ENSG00000132881	ENSG00000132881			28127	protein-coding gene	gene with protein product	"Rem/Rab-Similar GTPase 1"		"chromosome 1 open reading frame 89"	C1orf89		19767740	Standard	NM_030907		Approved	MGC10731	uc001ayd.3	Q9BU20	OTTHUMG00000002214	ENST00000375599.3:c.279C>T	1.37:g.16559499G>A							p.T93T	NM_030907.3	NP_112169.2	Q9BU20	RSG1_HUMAN			3	698	-			93			Small GTPase-like.		Q5TEV7	Silent	SNP	ENST00000375599.3	37	c.279C>T	CCDS171.1																																																																																				0.552	RSG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006279.2	NM_030907		22	39	0	0	0	1	0	22	39					A	16559499	G	A	16559499	2	1	435	1	0	0	0	0	0	0	0	1	2066	1103	39	2		2	C1orf89	1	16559499	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	25312	16559499	232691122	108	21033											
FBXO42	54455	broad.mit.edu	37	chr1	16577179	16577179	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aacacattatctctttgctcGtacaaagtacaaggcgtttg	12	13	7	9	2	1	0	0	0	1	0	3	0	1	0	0	1	4	4	0	1	6	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:16577179G>A	ENST00000375592.3	-	10	2356	c.2140C>T	c.(2140-2142)Cga>Tga	p.R714*		NM_018994.1	NP_061867.1	Q6P3S6	FBX42_HUMAN	F-box protein 42	714										autonomic_ganglia(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	26		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00475)|all_lung(284;0.00671)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0193)|Colorectal(212;3.16e-07)|COAD - Colon adenocarcinoma(227;1.46e-05)|BRCA - Breast invasive adenocarcinoma(304;4.37e-05)|Kidney(64;0.000246)|KIRC - Kidney renal clear cell carcinoma(64;0.00336)|STAD - Stomach adenocarcinoma(313;0.0139)|READ - Rectum adenocarcinoma(331;0.0693)		CTCTTTGCTCGTACAAAGTAC	0.398																																						ENST00000375592.3																			0				autonomic_ganglia(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	26						c.(2140-2142)Cga>Tga		F-box protein 42							136	131	133					1																	16577179		2203	4300	6503	SO:0001587	stop_gained	54455							g.chr1:16577179G>A	BC063864	CCDS30613.1	1p36.23-p36.11	2008-02-05			ENSG00000037637	ENSG00000037637		"F-boxes /  "other""	29249	protein-coding gene	gene with protein product		609109				10718198	Standard	XM_006710698		Approved	KIAA1332, Fbx42	uc001ayg.3	Q6P3S6	OTTHUMG00000002218	ENST00000375592.3:c.2140C>T	1.37:g.16577179G>A	ENSP00000364742:p.Arg714*						p.R714*	NM_018994.1	NP_061867.1	Q6P3S6	FBX42_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0193)|Colorectal(212;3.16e-07)|COAD - Colon adenocarcinoma(227;1.46e-05)|BRCA - Breast invasive adenocarcinoma(304;4.37e-05)|Kidney(64;0.000246)|KIRC - Kidney renal clear cell carcinoma(64;0.00336)|STAD - Stomach adenocarcinoma(313;0.0139)|READ - Rectum adenocarcinoma(331;0.0693)	10	2356	-		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00475)|all_lung(284;0.00671)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)	714					B3KP30|Q5TEU8|Q86XI0|Q8N3N4|Q8N5F8|Q9BRM0|Q9P2L4	Nonsense_Mutation	SNP	ENST00000375592.3	37	c.2140C>T	CCDS30613.1	.	.	.	.	.	.	.	.	.	.	G	39	7.877589	0.98539	.	.	ENSG00000037637	ENST00000375592	.	.	.	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-9.1812	18.7864	0.91957	0.0:0.0:1.0:0.0	.	.	.	.	X	714	.	ENSP00000364742:R714X	R	-	1	2	FBXO42	16449766	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.360000	0.73064	2.767000	0.95098	0.655000	0.94253	CGA		0.398	FBXO42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006285.1			41	61	0	0	0	1	0	41	61					A	16577179	G	A	16577179	4	1	435	1	0	0	0	0	0	1	0	0	5751	1153	40	1	17	1	FBXO42	1	16577179	Nonsense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	17680	16577179	232673442	109	21034											
FBXO42	54455	broad.mit.edu	37	chr1	16577707	16577707	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggccacgtgaggtggggtatGcacaccatttgtctgttcag	7	11	14	9	1	2	1	1	1	1	0	2	1	2	1	2	4	1	3	2	4	1	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:16577707G>A	ENST00000375592.3	-	10	1828	c.1612C>T	c.(1612-1614)Cat>Tat	p.H538Y		NM_018994.1	NP_061867.1	Q6P3S6	FBX42_HUMAN	F-box protein 42	538								p.H538Y(1)		autonomic_ganglia(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	26		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00475)|all_lung(284;0.00671)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0193)|Colorectal(212;3.16e-07)|COAD - Colon adenocarcinoma(227;1.46e-05)|BRCA - Breast invasive adenocarcinoma(304;4.37e-05)|Kidney(64;0.000246)|KIRC - Kidney renal clear cell carcinoma(64;0.00336)|STAD - Stomach adenocarcinoma(313;0.0139)|READ - Rectum adenocarcinoma(331;0.0693)		GGTGGGGTATGCACACCATTT	0.577																																						ENST00000375592.3																			1	Substitution - Missense(1)	p.H538Y(1)	large_intestine(1)	autonomic_ganglia(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	26						c.(1612-1614)Cat>Tat		F-box protein 42							101	72	82					1																	16577707		2203	4300	6503	SO:0001583	missense	54455							g.chr1:16577707G>A	BC063864	CCDS30613.1	1p36.23-p36.11	2008-02-05			ENSG00000037637	ENSG00000037637		"F-boxes /  "other""	29249	protein-coding gene	gene with protein product		609109				10718198	Standard	XM_006710698		Approved	KIAA1332, Fbx42	uc001ayg.3	Q6P3S6	OTTHUMG00000002218	ENST00000375592.3:c.1612C>T	1.37:g.16577707G>A	ENSP00000364742:p.His538Tyr						p.H538Y	NM_018994.1	NP_061867.1	Q6P3S6	FBX42_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0193)|Colorectal(212;3.16e-07)|COAD - Colon adenocarcinoma(227;1.46e-05)|BRCA - Breast invasive adenocarcinoma(304;4.37e-05)|Kidney(64;0.000246)|KIRC - Kidney renal clear cell carcinoma(64;0.00336)|STAD - Stomach adenocarcinoma(313;0.0139)|READ - Rectum adenocarcinoma(331;0.0693)	10	1828	-		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00475)|all_lung(284;0.00671)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)	538					B3KP30|Q5TEU8|Q86XI0|Q8N3N4|Q8N5F8|Q9BRM0|Q9P2L4	Missense_Mutation	SNP	ENST00000375592.3	37	c.1612C>T	CCDS30613.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.226547	0.79576	.	.	ENSG00000037637	ENST00000375592;ENST00000456164;ENST00000444116	T;T;T	0.62788	3.49;-0.0;-0.0	5.51	5.51	0.81932	.	0.105878	0.64402	D	0.000002	T	0.65059	0.2655	N	0.24115	0.695	0.80722	D	1	D	0.57899	0.981	D	0.65140	0.932	T	0.56529	-0.7964	10	0.10636	T	0.68	-15.7388	18.7669	0.91876	0.0:0.0:1.0:0.0	.	538	Q6P3S6	FBX42_HUMAN	Y	538;256;256	ENSP00000364742:H538Y;ENSP00000415663:H256Y;ENSP00000412416:H256Y	ENSP00000364742:H538Y	H	-	1	0	FBXO42	16450294	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	8.874000	0.92363	2.763000	0.94921	0.650000	0.86243	CAT		0.577	FBXO42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006285.1			22	48	0	0	0	1	0	22	48					A	16577707	G	A	16577707	3	1	435	1	0	0	0	0	1	0	0	0	5751	1319	46	3	545	3	FBXO42	1	16577707	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	528	16577707	232672914	110	21035											
NBPF1	55672	broad.mit.edu	37	chr1	16892269	16892269	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tgagtcctgcaagacttcagGctctactgcctccagcagct	8	10	9	14	0	2	2	1	1	1	1	4	2	4	2	3	1	5	4	3	1	2	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:16892269G>A	ENST00000430580.2	-	27	3810	c.2923C>T	c.(2923-2925)Cct>Tct	p.P975S		NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1	975	NBPF 6. {ECO:0000255|PROSITE- ProRule:PRU00647}.					cytoplasm (GO:0005737)									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		AAGACTTCAGGCTCTACTGCC	0.488																																						ENST00000430580.2																			0											c.(2923-2925)Cct>Tct		neuroblastoma breakpoint family, member 1							22	18	19					1																	16892269		1490	2607	4097	SO:0001583	missense	55672					cytoplasm		g.chr1:16892269G>A	AB051480		1p36.13	2013-01-30			ENSG00000219481	ENSG00000219481		"neuroblastoma breakpoint family"	26088	protein-coding gene	gene with protein product		610501				11214970, 16079250	Standard	NM_017940		Approved	FLJ20719, KIAA1693	uc001ayw.4	Q3BBV0	OTTHUMG00000002487	ENST00000430580.2:c.2923C>T	1.37:g.16892269G>A	ENSP00000474456:p.Pro975Ser						p.P975S	NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)	27	3810	-			975			NBPF 6.		Q8N4E8|Q9C0H0	Missense_Mutation	SNP	ENST00000430580.2	37	c.2923C>T																																																																																					0.488	NBPF1-005	NOVEL	upstream_uORF|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000106436.3	NM_017940		26	1306	0	0	0	1	0	26	1306					A	16892269	G	A	16892269	3	1	435	1	0	0	0	0	1	0	0	0	10192	1203	42	3	508	3	NBPF1	1	16892269	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	314562	16892269	232358352	111	21036											
NBPF1	55672	broad.mit.edu	37	chr1	16893673	16893673	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ccttcatagaaaggtactcaCcatccatgtcaagagcccag	13	8	7	13	0	3	2	3	0	0	2	4	2	4	2	4	1	2	1	4	1	4	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:16893673C>T	ENST00000430580.2	-	25	3727		c.e25+1		NBPF1_ENST00000432949.1_Splice_Site|NBPF1_ENST00000420031.2_Splice_Site	NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1							cytoplasm (GO:0005737)									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		AAGGTACTCACCATCCATGTC	0.468																																						ENST00000430580.2																			0											c.e25+1		neuroblastoma breakpoint family, member 1							921	767	819					1																	16893673		2203	4300	6503	SO:0001630	splice_region_variant	55672					cytoplasm		g.chr1:16893673C>T	AB051480		1p36.13	2013-01-30			ENSG00000219481	ENSG00000219481		"neuroblastoma breakpoint family"	26088	protein-coding gene	gene with protein product		610501				11214970, 16079250	Standard	NM_017940		Approved	FLJ20719, KIAA1693	uc001ayw.4	Q3BBV0	OTTHUMG00000002487	ENST00000430580.2:c.2839+1G>A	1.37:g.16893673C>T						NBPF1_ENST00000420031.2_Splice_Site|NBPF1_ENST00000432949.1_Splice_Site		NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)	25	3727	-								Q8N4E8|Q9C0H0	Splice_Site	SNP	ENST00000430580.2	37																																																																																						0.468	NBPF1-005	NOVEL	upstream_uORF|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000106436.3	NM_017940	Intron	50	2266	0	0	0	1	0	50	2266					T	16893673	C	T	16893673	5	4	435	1	0	0	0	0	0	0	1	0	10192	521	18	3	604	3	NBPF1	1	16893673	Splice_Site	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	1404	16893673	232356948	112	21037											
NBPF1	55672	broad.mit.edu	37	chr1	16893830	16893830	+	Missense_Mutation	SNP	G	G	A																															ttcaggccctttctcatccaGcagctccctgctgagcctgg																										TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:16893830G>A	ENST00000432949.1	-	8	892	c.893C>T	c.(892-894)gCt>gTt	p.A298V	NBPF1_ENST00000430580.2_Silent_p.L895L|NBPF1_ENST00000420031.2_3'UTR			Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1	0						cytoplasm (GO:0005737)									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		TTCTCATCCAGCAGCTCCCTG	0.483																																						ENST00000432949.1																			0											c.(892-894)gCt>gTt		neuroblastoma breakpoint family, member 1							282	259	267					1																	16893830		2202	4280	6482	SO:0001583	missense	55672					cytoplasm		g.chr1:16893830G>A	AB051480		1p36.13	2013-01-30			ENSG00000219481	ENSG00000219481		"neuroblastoma breakpoint family"	26088	protein-coding gene	gene with protein product		610501				11214970, 16079250	Standard	NM_017940		Approved	FLJ20719, KIAA1693	uc001ayw.4	Q3BBV0	OTTHUMG00000002487	ENST00000432949.1:c.893C>T	1.37:g.16893830G>A	ENSP00000473697:p.Ala298Val					NBPF1_ENST00000420031.2_3'UTR|NBPF1_ENST00000430580.2_Silent_p.L895L	p.A298V			Q3BBV0	NBPF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)	8	892	-			0					Q8N4E8|Q9C0H0	Missense_Mutation	SNP	ENST00000432949.1	37	c.893C>T																																																																																					0.483	NBPF1-203	KNOWN	basic	protein_coding	protein_coding		NM_017940		15	2261	0	0	0	1	0	15	2261					A	16893830	G	A	16893830	3	1	435	1	0	0	0	0	1	0	0	0	10192	962	34	3	761	3	NBPF1	1	16893830	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	157	16893830	232356791	113	21038	107	2									
NBPF1	55672	broad.mit.edu	37	chr1	16893834	16893834	+	Missense_Mutation	SNP	C	C	A																															ggccctttctcatccagcagCtccctgctgagcctggaaca																										TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:16893834C>A	ENST00000430580.2	-	25	3566	c.2679G>T	c.(2677-2679)gaG>gaT	p.E893D	NBPF1_ENST00000432949.1_Missense_Mutation_p.A297S|NBPF1_ENST00000420031.2_3'UTR	NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1	893	NBPF 5. {ECO:0000255|PROSITE- ProRule:PRU00647}.					cytoplasm (GO:0005737)									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		CATCCAGCAGCTCCCTGCTGA	0.483																																						ENST00000430580.2																			0											c.(2677-2679)gaG>gaT		neuroblastoma breakpoint family, member 1							269	247	255					1																	16893834		2202	4280	6482	SO:0001583	missense	55672					cytoplasm		g.chr1:16893834C>A	AB051480		1p36.13	2013-01-30			ENSG00000219481	ENSG00000219481		"neuroblastoma breakpoint family"	26088	protein-coding gene	gene with protein product		610501				11214970, 16079250	Standard	NM_017940		Approved	FLJ20719, KIAA1693	uc001ayw.4	Q3BBV0	OTTHUMG00000002487	ENST00000430580.2:c.2679G>T	1.37:g.16893834C>A	ENSP00000474456:p.Glu893Asp					NBPF1_ENST00000420031.2_3'UTR|NBPF1_ENST00000432949.1_Missense_Mutation_p.A297S	p.E893D	NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)	25	3566	-			893			NBPF 5.		Q8N4E8|Q9C0H0	Missense_Mutation	SNP	ENST00000430580.2	37	c.2679G>T																																																																																					0.483	NBPF1-005	NOVEL	upstream_uORF|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000106436.3	NM_017940		48	2204	1	0	0.146539	1	0.147128	48	2204					A	16893834	C	A	16893834	3	1	435	1	0	0	0	0	1	0	0	0	10192	796	28	5	765	5	NBPF1	1	16893834	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	4	16893834	232356787	114	21039	107	2									
NBPF1	55672	broad.mit.edu	37	chr1	16895569	16895569	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcacaatggagtactcaccGcctatgtcaacagccatgca	12	9	7	13	1	3	0	3	0	0	0	3	1	3	1	3	1	4	2	3	1	4	3	rs374641830		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:16895569G>A	ENST00000430580.2	-	23	3500	c.2613C>T	c.(2611-2613)ggC>ggT	p.G871G	NBPF1_ENST00000432949.1_Intron|NBPF1_ENST00000420031.2_3'UTR	NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1	871	NBPF 4. {ECO:0000255|PROSITE- ProRule:PRU00647}.					cytoplasm (GO:0005737)									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		AGTACTCACCGCCTATGTCAA	0.498																																						ENST00000430580.2																			0											c.e23+1		neuroblastoma breakpoint family, member 1		G		1,4405		0,1,2202	435	401	413		2613	-1.1	0	1		413	0,8594		0,0,4297	no	coding-synonymous-near-splice	NBPF1	NM_017940.3		0,1,6499	AA,AG,GG		0.0,0.0227,0.0077		871/1123	16895569	1,12999	2203	4297	6500	SO:0001630	splice_region_variant	55672					cytoplasm		g.chr1:16895569G>A	AB051480		1p36.13	2013-01-30			ENSG00000219481	ENSG00000219481		"neuroblastoma breakpoint family"	26088	protein-coding gene	gene with protein product		610501				11214970, 16079250	Standard	NM_017940		Approved	FLJ20719, KIAA1693	uc001ayw.4	Q3BBV0	OTTHUMG00000002487	ENST00000430580.2:c.2614+1C>T	1.37:g.16895569G>A						NBPF1_ENST00000420031.2_3'UTR|NBPF1_ENST00000432949.1_Intron	p.G871_splice	NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)	23	3500	-			871			NBPF 4.		Q8N4E8|Q9C0H0	Splice_Site	SNP	ENST00000430580.2	37	c.2614_splice																																																																																					0.498	NBPF1-005	NOVEL	upstream_uORF|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000106436.3	NM_017940	Silent	137	1186	0	0	0	1	0	137	1186					A	16895569	G	A	16895569	5	1	435	1	0	0	0	0	0	0	1	0	10192	1101	38	1	839	1	NBPF1	1	16895569	Splice_Site	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	1735	16895569	232355052	115	21040											
NBPF1	55672	broad.mit.edu	37	chr1	16895689	16895689	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtcgaataaccttcatcccaGgactcctgggggacttcctc	8	10	9	14	1	1	0	1	0	0	0	6	3	4	2	4	3	1	0	4	3	2	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:16895689G>A	ENST00000430580.2	-	23	3380	c.2493C>T	c.(2491-2493)tcC>tcT	p.S831S	NBPF1_ENST00000287968.8_3'UTR|NBPF1_ENST00000432949.1_Intron|NBPF1_ENST00000420031.2_3'UTR	NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1	831	NBPF 4. {ECO:0000255|PROSITE- ProRule:PRU00647}.					cytoplasm (GO:0005737)									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		CTTCATCCCAGGACTCCTGGG	0.478																																						ENST00000430580.2																			0											c.(2491-2493)tcC>tcT		neuroblastoma breakpoint family, member 1							55	56	56					1																	16895689		1568	3268	4836	SO:0001819	synonymous_variant	55672					cytoplasm		g.chr1:16895689G>A	AB051480		1p36.13	2013-01-30			ENSG00000219481	ENSG00000219481		"neuroblastoma breakpoint family"	26088	protein-coding gene	gene with protein product		610501				11214970, 16079250	Standard	NM_017940		Approved	FLJ20719, KIAA1693	uc001ayw.4	Q3BBV0	OTTHUMG00000002487	ENST00000430580.2:c.2493C>T	1.37:g.16895689G>A						NBPF1_ENST00000420031.2_3'UTR|NBPF1_ENST00000287968.8_3'UTR|NBPF1_ENST00000432949.1_Intron	p.S831S	NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)	23	3380	-			831			NBPF 4.		Q8N4E8|Q9C0H0	Silent	SNP	ENST00000430580.2	37	c.2493C>T																																																																																					0.478	NBPF1-005	NOVEL	upstream_uORF|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000106436.3	NM_017940		30	247	0	0	0	1	0	30	247					A	16895689	G	A	16895689	2	1	435	1	0	0	0	0	0	0	0	1	10192	987	35	3		3	NBPF1	1	16895689	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	120	16895689	232354932	116	21041											
NBPF1	55672	broad.mit.edu	37	chr1	16902810	16902810	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tgccagtctacacccctcagCcagctgttcttggaggtcct	6	11	9	15	0	3	0	1	0	2	0	4	1	4	1	5	2	4	2	5	2	1	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:16902810C>T	ENST00000430580.2	-	19	2958	c.2071G>A	c.(2071-2073)Gct>Act	p.A691T	NBPF1_ENST00000287968.8_Missense_Mutation_p.A56T|NBPF1_ENST00000432949.1_Missense_Mutation_p.A149T|NBPF1_ENST00000420031.2_5'Flank	NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1	691						cytoplasm (GO:0005737)									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		CACCCCTCAGCCAGCTGTTCT	0.577																																						ENST00000430580.2																			0											c.(2071-2073)Gct>Act		neuroblastoma breakpoint family, member 1							227	246	239					1																	16902810		1510	2703	4213	SO:0001583	missense	55672					cytoplasm		g.chr1:16902810C>T	AB051480		1p36.13	2013-01-30			ENSG00000219481	ENSG00000219481		"neuroblastoma breakpoint family"	26088	protein-coding gene	gene with protein product		610501				11214970, 16079250	Standard	NM_017940		Approved	FLJ20719, KIAA1693	uc001ayw.4	Q3BBV0	OTTHUMG00000002487	ENST00000430580.2:c.2071G>A	1.37:g.16902810C>T	ENSP00000474456:p.Ala691Thr					NBPF1_ENST00000287968.8_Missense_Mutation_p.A56T|NBPF1_ENST00000432949.1_Missense_Mutation_p.A149T	p.A691T	NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)	19	2958	-			691					Q8N4E8|Q9C0H0	Missense_Mutation	SNP	ENST00000430580.2	37	c.2071G>A																																																																																					0.577	NBPF1-005	NOVEL	upstream_uORF|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000106436.3	NM_017940		43	813	0	0	0	1	0	43	813					T	16902810	C	T	16902810	3	4	435	1	0	0	0	0	1	0	0	0	10192	739	26	3	1397	3	NBPF1	1	16902810	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	7121	16902810	232347811	117	21042											
ATP13A2	23400	broad.mit.edu	37	chr1	17322788	17322788	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aagatgctgtagatggtgccGaggagagctgtggggacagc	10	7	18	6	1	0	3	0	0	0	3	0	6	0	4	1	4	4	3	1	4	2	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:17322788G>A	ENST00000326735.8	-	14	1347	c.1314C>T	c.(1312-1314)ctC>ctT	p.L438L	ATP13A2_ENST00000502860.1_5'UTR|ATP13A2_ENST00000341676.5_Silent_p.L433L|RP1-37C10.3_ENST00000446261.1_RNA|ATP13A2_ENST00000452699.1_Silent_p.L433L			Q9NQ11	AT132_HUMAN	ATPase type 13A2	438					cell death (GO:0008219)|cellular response to manganese ion (GO:0071287)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(11)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Colorectal(325;0.000147)|Breast(348;0.00104)|Renal(390;0.00145)|Lung NSC(340;0.00566)|all_lung(284;0.00797)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|COAD - Colon adenocarcinoma(227;1.11e-05)|BRCA - Breast invasive adenocarcinoma(304;1.99e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182)		AGATGGTGCCGAGGAGAGCTG	0.662																																						ENST00000452699.1																			0				central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(11)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32						c.(1297-1299)ctC>ctT		ATPase type 13A2							69	75	73					1																	17322788		2203	4300	6503	SO:0001819	synonymous_variant	23400				ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding	g.chr1:17322788G>A	AL354615	CCDS175.1, CCDS44072.1, CCDS44073.1	1p36	2014-09-17			ENSG00000159363	ENSG00000159363		"ATPases / P-type", "Parkinson disease"	30213	protein-coding gene	gene with protein product		610513	"Parkinson disease (autosomal recessive) 9 (Kufor-Rakeb syndrome)"	PARK9		15381061, 16964263	Standard	XM_005245809		Approved	HSA9947, CLN12	uc001baa.2	Q9NQ11	OTTHUMG00000002293	ENST00000326735.8:c.1314C>T	1.37:g.17322788G>A						ATP13A2_ENST00000502860.1_5'UTR|ATP13A2_ENST00000341676.5_Silent_p.L433L|RP1-37C10.3_ENST00000446261.1_RNA|ATP13A2_ENST00000326735.8_Silent_p.L438L	p.L433L	NM_001141973.1|NM_022089.2	NP_001135445.1|NP_071372.1	Q9NQ11	AT132_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|COAD - Colon adenocarcinoma(227;1.11e-05)|BRCA - Breast invasive adenocarcinoma(304;1.99e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182)	14	1488	-		Colorectal(325;0.000147)|Breast(348;0.00104)|Renal(390;0.00145)|Lung NSC(340;0.00566)|all_lung(284;0.00797)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)	438					O75700|Q5JXY1|Q5JXY2|Q6S9Z9	Silent	SNP	ENST00000326735.8	37	c.1299C>T	CCDS175.1																																																																																				0.662	ATP13A2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000006617.1	NM_022089		16	22	0	0	0	1	0	16	22					A	17322788	G	A	17322788	2	1	435	1	0	0	0	0	0	0	0	1	1124	1045	37	2		2	ATP13A2	1	17322788	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	419978	17322788	231927833	118	21043											
SDHB	6390	broad.mit.edu	37	chr1	17349119	17349119	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtaccttaggacaggtccttGtgcagttcatgatggtgtgg	7	13	14	7	0	1	1	1	1	0	0	2	2	2	2	2	4	2	3	2	4	2	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:17349119G>A	ENST00000375499.3	-	7	899	c.749C>T	c.(748-750)aCa>aTa	p.T250I		NM_003000.2	NP_002991.2	P21912	SDHB_HUMAN	succinate dehydrogenase complex, subunit B, iron sulfur (Ip)	250					aerobic respiration (GO:0009060)|cellular metabolic process (GO:0044237)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)|succinate metabolic process (GO:0006105)|tricarboxylic acid cycle (GO:0006099)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex II (GO:0005749)|mitochondrion (GO:0005739)	2 iron, 2 sulfur cluster binding (GO:0051537)|3 iron, 4 sulfur cluster binding (GO:0051538)|4 iron, 4 sulfur cluster binding (GO:0051539)|electron carrier activity (GO:0009055)|metal ion binding (GO:0046872)|succinate dehydrogenase (ubiquinone) activity (GO:0008177)|ubiquinone binding (GO:0048039)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)	10		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00054)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0049)|COAD - Colon adenocarcinoma(227;1.18e-05)|BRCA - Breast invasive adenocarcinoma(304;2.41e-05)|Kidney(64;0.000188)|KIRC - Kidney renal clear cell carcinoma(64;0.00273)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.19)	Succinic acid(DB00139)	ACAGGTCCTTGTGCAGTTCAT	0.557			"Mis, N, F"			"paraganglioma, pheochromocytoma"			Familial Paragangliomas;Cowden syndrome;Carney-Stratakis syndrome																													ENST00000375499.3			yes	Rec		Familial paraganglioma	1	1p36.1-p35	6390	"Mis, N, F"	"succinate dehydrogenase complex, subunit B, iron sulfur (Ip)"			O		"paraganglioma, pheochromocytoma"			0				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)	10						c.(748-750)aCa>aTa		succinate dehydrogenase complex, subunit B, iron sulfur (Ip)	Succinic acid(DB00139)						179	161	167					1																	17349119		2203	4300	6503	SO:0001583	missense	6390	Familial Paragangliomas;Cowden syndrome;Carney-Stratakis syndrome	Familial Cancer Database	Hereditary Glomus Tumors, Familial Paragangliomas, Hereditary Paragangliomas, type 1-3: PGL1, PGL2, PGL3, incl. Familial Carotid Body Paraganglioma and Sensorineural Hearing Loss;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;Carney-Stratakis dyad, Paraganglioma-Gastric Stromal Sarcoma dyad	respiratory electron transport chain|transport|tricarboxylic acid cycle	mitochondrial respiratory chain complex II	2 iron, 2 sulfur cluster binding|3 iron, 4 sulfur cluster binding|4 iron, 4 sulfur cluster binding|electron carrier activity|metal ion binding|protein binding|succinate dehydrogenase (ubiquinone) activity|ubiquinone binding	g.chr1:17349119G>A	U17248	CCDS176.1	1p36.1-p35	2014-09-17			ENSG00000117118	ENSG00000117118	1.3.99.1	"Mitochondrial respiratory chain complex / Complex II"	10681	protein-coding gene	gene with protein product		185470		SDH1, SDH			Standard	NM_003000		Approved		uc001bae.3	P21912	OTTHUMG00000002289	ENST00000375499.3:c.749C>T	1.37:g.17349119G>A	ENSP00000364649:p.Thr250Ile						p.T250I	NM_003000.2	NP_002991.2	P21912	DHSB_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0049)|COAD - Colon adenocarcinoma(227;1.18e-05)|BRCA - Breast invasive adenocarcinoma(304;2.41e-05)|Kidney(64;0.000188)|KIRC - Kidney renal clear cell carcinoma(64;0.00273)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.19)	7	899	-		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00054)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)	250					B2R545|Q0QEY7|Q9NQ12	Missense_Mutation	SNP	ENST00000375499.3	37	c.749C>T	CCDS176.1	.	.	.	.	.	.	.	.	.	.	G	27.6	4.845796	0.91197	.	.	ENSG00000117118	ENST00000375499	D	0.96885	-4.16	5.44	5.44	0.79542	Fumarate reductase, C-terminal (1);Alpha-helical ferredoxin (1);	0.000000	0.85682	D	0.000000	D	0.98018	0.9347	M	0.83118	2.625	0.80722	D	1	D	0.63046	0.992	D	0.64042	0.921	D	0.98688	1.0695	10	0.87932	D	0	-18.5393	18.186	0.89793	0.0:0.0:1.0:0.0	.	250	P21912	DHSB_HUMAN	I	250	ENSP00000364649:T250I	ENSP00000364649:T250I	T	-	2	0	SDHB	17221706	1.000000	0.71417	0.962000	0.40283	0.981000	0.71138	9.087000	0.94110	2.702000	0.92279	0.655000	0.94253	ACA		0.557	SDHB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006603.1	NM_003000		50	58	0	0	0	1	0	50	58					A	17349119	G	A	17349119	3	1	435	1	0	0	0	0	1	0	0	0	13965	1377	48	3	101	3	SDHB	1	17349119	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	26331	17349119	231901502	119	21044											
PADI2	11240	broad.mit.edu	37	chr1	17410236	17410236	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttacctggatccagcgatcGcctcggtttaggtactggaa	8	11	11	11	3	0	0	0	0	0	0	3	3	1	2	3	4	3	2	3	4	4	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:17410236G>A	ENST00000375486.4	-	9	1098	c.1035C>T	c.(1033-1035)ggC>ggT	p.G345G	PADI2_ENST00000466151.1_5'Flank|PADI2_ENST00000444885.2_Silent_p.G229G|PADI2_ENST00000375481.1_Silent_p.G345G	NM_007365.2	NP_031391.2	Q9Y2J8	PADI2_HUMAN	peptidyl arginine deiminase, type II	345					chromatin-mediated maintenance of transcription (GO:0048096)|histone H3-R26 citrullination (GO:0036413)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of lymphocyte chemotaxis (GO:1901624)|protein citrullination (GO:0018101)|regulation of chromatin disassembly (GO:0010848)|substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|transcriptionally active chromatin (GO:0035327)	calcium ion binding (GO:0005509)|estrogen receptor binding (GO:0030331)|protein-arginine deiminase activity (GO:0004668)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(12)|ovary(4)|pancreas(1)|skin(5)|urinary_tract(3)	29		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000422)|Renal(390;0.000518)|all_lung(284;0.000546)|Ovarian(437;0.00671)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;1.49e-05)|COAD - Colon adenocarcinoma(227;1.54e-05)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201)	L-Citrulline(DB00155)	TCCAGCGATCGCCTCGGTTTA	0.532																																						ENST00000375486.4																			0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(12)|ovary(4)|pancreas(1)|skin(5)|urinary_tract(3)	29						c.(1033-1035)ggC>ggT		peptidyl arginine deiminase, type II	L-Citrulline(DB00155)						117	112	114					1																	17410236		2203	4300	6503	SO:0001819	synonymous_variant	11240				peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity	g.chr1:17410236G>A	AB030176	CCDS177.1	1p35.2-p35.1	2008-02-05			ENSG00000117115	ENSG00000117115	3.5.3.15	"Peptidyl arginine deiminases"	18341	protein-coding gene	gene with protein product		607935				2768262	Standard	NM_007365		Approved	KIAA0994, PDI2	uc001baf.3	Q9Y2J8	OTTHUMG00000002295	ENST00000375486.4:c.1035C>T	1.37:g.17410236G>A						PADI2_ENST00000444885.2_Silent_p.G229G|PADI2_ENST00000375481.1_Silent_p.G345G	p.G345G	NM_007365.2	NP_031391.2	Q9Y2J8	PADI2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;1.49e-05)|COAD - Colon adenocarcinoma(227;1.54e-05)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201)	9	1098	-		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000422)|Renal(390;0.000518)|all_lung(284;0.000546)|Ovarian(437;0.00671)|Myeloproliferative disorder(586;0.0255)	345					Q96DA7|Q9UPN2	Silent	SNP	ENST00000375486.4	37	c.1035C>T	CCDS177.1																																																																																				0.532	PADI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006624.1			33	37	0	0	0	1	0	33	37					A	17410236	G	A	17410236	2	1	435	1	0	0	0	0	0	0	0	1	11378	1074	38	1		1	PADI2	1	17410236	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	61117	17410236	231840385	120	21045											
PADI6	353238	broad.mit.edu	37	chr1	17701957	17701957	+	RNA	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tatgggcccaacgaggatgcCcccgtgggcacagctgtgct	7	7	14	13	2	0	0	0	0	0	0	0	2	0	1	3	3	4	3	3	3	2	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:17701957C>T	ENST00000434762.2	+	0	380							Q6TGC4	PADI6_HUMAN	peptidyl arginine deiminase, type VI						cytoplasm organization (GO:0007028)|cytoskeleton organization (GO:0007010)|protein citrullination (GO:0018101)|regulation of translation by machinery localization (GO:0043143)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|protein-arginine deiminase activity (GO:0004668)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(2)	29		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;7.59e-06)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.0134)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	L-Citrulline(DB00155)	ACGAGGATGCCCCCGTGGGCA	0.622																																						ENST00000434762.2																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(2)	29								peptidyl arginine deiminase, type VI	L-Citrulline(DB00155)						49	50	50					1																	17701957		2064	4204	6268			353238				peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm|nucleus	calcium ion binding|protein-arginine deiminase activity	g.chr1:17701957C>T	AY422079	CCDS72715.1	1p36.13	2014-07-10			ENSG00000256049	ENSG00000276747	3.5.3.15	"Peptidyl arginine deiminases"	20449	protein-coding gene	gene with protein product		610363				15087120	Standard	NM_207421		Approved		uc001bak.1	Q6TGC4	OTTHUMG00000002372		1.37:g.17701957C>T										Q6TGC4	PADI6_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;7.59e-06)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.0134)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	0	380	+		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)						Q330K5|Q70SX3	RNA	SNP	ENST00000434762.2	37																																																																																						0.622	PADI6-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000006804.4	NM_207421		4	8	0	0	0	1	0	4	8					T	17701957	C	T	17701957	1	4	435	0	1	0	0	0	0	0	0	0	11381	610	22	3		3	PADI6	1	17701957	RNA	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	291721	17701957	231548664	121	21046											
PADI6	353238	broad.mit.edu	37	chr1	17727705	17727705	+	RNA	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctgtctttctaacagttgcGgatgattgtgatgggcaaga	9	13	12	7	1	2	3	0	2	2	1	2	4	2	4	1	2	2	2	1	2	2	4	rs369442107		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:17727705G>A	ENST00000434762.2	+	0	1907							Q6TGC4	PADI6_HUMAN	peptidyl arginine deiminase, type VI						cytoplasm organization (GO:0007028)|cytoskeleton organization (GO:0007010)|protein citrullination (GO:0018101)|regulation of translation by machinery localization (GO:0043143)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|protein-arginine deiminase activity (GO:0004668)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(2)	29		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;7.59e-06)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.0134)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	L-Citrulline(DB00155)	TAACAGTTGCGGATGATTGTG	0.582													G|||	1	0.000199681	0	0	5008	,	,		17685	0		0	False		,,,				2504	0.001					ENST00000434762.2																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(2)	29								peptidyl arginine deiminase, type VI	L-Citrulline(DB00155)	G	GLN/ARG	1,3895		0,1,1947	52	56	54		1857	-0.8	0.1	1		54	1,8281		0,1,4140	no	missense	PADI6	NM_207421.3	43	0,2,6087	AA,AG,GG		0.0121,0.0257,0.0164	benign	619/695	17727705	2,12176	1948	4141	6089			353238				peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm|nucleus	calcium ion binding|protein-arginine deiminase activity	g.chr1:17727705G>A	AY422079	CCDS72715.1	1p36.13	2014-07-10			ENSG00000256049	ENSG00000276747	3.5.3.15	"Peptidyl arginine deiminases"	20449	protein-coding gene	gene with protein product		610363				15087120	Standard	NM_207421		Approved		uc001bak.1	Q6TGC4	OTTHUMG00000002372		1.37:g.17727705G>A										Q6TGC4	PADI6_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;7.59e-06)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.0134)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	0	1907	+		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)						Q330K5|Q70SX3	RNA	SNP	ENST00000434762.2	37																																																																																						0.582	PADI6-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000006804.4	NM_207421		16	15	0	0	0	1	0	16	15					A	17727705	G	A	17727705	1	1	435	0	1	0	0	0	0	0	0	0	11381	1116	39	2		2	PADI6	1	17727705	RNA	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	25748	17727705	231522916	122	21047											
ARHGEF10L	55160	broad.mit.edu	37	chr1	17949514	17949514	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taccgcaaccccctgatggaGatggagcccaaggcgctgag	10	5	13	13	2	0	3	0	2	0	1	0	5	0	4	4	3	3	2	4	3	3	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:17949514G>T	ENST00000361221.3	+	12	1203	c.1044G>T	c.(1042-1044)gaG>gaT	p.E348D	ARHGEF10L_ENST00000167825.4_Missense_Mutation_p.E126D|ARHGEF10L_ENST00000375408.3_Missense_Mutation_p.E126D|ARHGEF10L_ENST00000375420.3_Missense_Mutation_p.E106D|ARHGEF10L_ENST00000375415.1_Missense_Mutation_p.E309D|ARHGEF10L_ENST00000469726.1_3'UTR|ARHGEF10L_ENST00000434513.1_Missense_Mutation_p.E348D|ARHGEF10L_ENST00000452522.1_Missense_Mutation_p.E309D	NM_018125.3	NP_060595	Q9HCE6	ARGAL_HUMAN	Rho guanine nucleotide exchange factor (GEF) 10-like	348	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.					cytoplasm (GO:0005737)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	43		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00598)|COAD - Colon adenocarcinoma(227;1.62e-05)|BRCA - Breast invasive adenocarcinoma(304;1.68e-05)|Kidney(64;0.000269)|KIRC - Kidney renal clear cell carcinoma(64;0.00361)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0718)|Lung(427;0.204)		CCCTGATGGAGATGGAGCCCA	0.667																																						ENST00000361221.3																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	43						c.(1042-1044)gaG>gaT		Rho guanine nucleotide exchange factor (GEF) 10-like							57	53	54					1																	17949514		2203	4300	6503	SO:0001583	missense	55160				regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity	g.chr1:17949514G>T	AB046846	CCDS182.1, CCDS30617.1	1p36.13	2011-11-16			ENSG00000074964	ENSG00000074964		"Rho guanine nucleotide exchange factors"	25540	protein-coding gene	gene with protein product	"GrinchGEF"	612494				10997877, 16112081	Standard	XM_005245923		Approved	FLJ10521, KIAA1626	uc001ban.3	Q9HCE6	OTTHUMG00000002514	ENST00000361221.3:c.1044G>T	1.37:g.17949514G>T	ENSP00000355060:p.Glu348Asp					ARHGEF10L_ENST00000375408.3_Missense_Mutation_p.E126D|ARHGEF10L_ENST00000452522.1_Missense_Mutation_p.E309D|ARHGEF10L_ENST00000469726.1_3'UTR|ARHGEF10L_ENST00000375420.3_Missense_Mutation_p.E106D|ARHGEF10L_ENST00000375415.1_Missense_Mutation_p.E309D|ARHGEF10L_ENST00000167825.4_Missense_Mutation_p.E126D|ARHGEF10L_ENST00000434513.1_Missense_Mutation_p.E348D	p.E348D	NM_018125.3	NP_060595.3	Q9HCE6	ARGAL_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00598)|COAD - Colon adenocarcinoma(227;1.62e-05)|BRCA - Breast invasive adenocarcinoma(304;1.68e-05)|Kidney(64;0.000269)|KIRC - Kidney renal clear cell carcinoma(64;0.00361)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0718)|Lung(427;0.204)	12	1203	+		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)	348			DH.		B7ZKS1|Q17RW1|Q3YFJ4|Q5VXI5|Q5VXI6|Q66K51|Q6P0L7|Q8NAV5|Q9NVT3	Missense_Mutation	SNP	ENST00000361221.3	37	c.1044G>T	CCDS182.1	.	.	.	.	.	.	.	.	.	.	G	10.34	1.323969	0.24080	.	.	ENSG00000074964	ENST00000361221;ENST00000452522;ENST00000434513;ENST00000375415;ENST00000375420;ENST00000375408;ENST00000457829;ENST00000167825	T;T;T;T;T;T;T	0.65178	-0.14;-0.14;-0.14;-0.14;-0.14;-0.14;-0.14	4.58	3.67	0.42095	Dbl homology (DH) domain (5);	0.199706	0.42053	D	0.000767	T	0.55909	0.1950	L	0.49571	1.57	0.38636	D	0.951499	B;B;B;B;B;B;B;B	0.32620	0.378;0.071;0.292;0.002;0.071;0.149;0.322;0.245	B;B;B;B;B;B;B;B	0.38225	0.253;0.168;0.268;0.004;0.107;0.109;0.129;0.204	T	0.57124	-0.7865	10	0.46703	T	0.11	-22.4224	7.3453	0.26660	0.0933:0.1698:0.7369:0.0	.	126;106;348;126;114;309;309;348	Q5VXI4;B4DTE2;Q9HCE6-5;Q9HCE6-4;B3KX74;Q9HCE6-3;Q9HCE6-2;Q9HCE6	.;.;.;.;.;.;.;ARGAL_HUMAN	D	348;309;348;309;106;126;126;126	ENSP00000355060:E348D;ENSP00000399401:E309D;ENSP00000394621:E348D;ENSP00000364564:E309D;ENSP00000364569:E106D;ENSP00000364557:E126D;ENSP00000167825:E126D	ENSP00000167825:E126D	E	+	3	2	ARHGEF10L	17822101	1.000000	0.71417	1.000000	0.80357	0.300000	0.27592	2.398000	0.44486	0.915000	0.36847	-0.339000	0.08088	GAG		0.667	ARHGEF10L-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000007147.1	NM_018125		9	14	1	0	3.86212e-05	1	3.97146e-05	9	14					T	17949514	G	T	17949514	3	4	435	1	0	0	0	0	1	0	0	0	895	933	33	5	1086	5	ARHGEF10L	1	17949514	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	221809	17949514	231301107	123	21048											
ARHGEF10L	55160	broad.mit.edu	37	chr1	17952504	17952504	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctacgggctgatggtcaaGcccatccagaggttcccaca	9	8	10	14	1	2	2	1	1	1	1	4	2	4	2	3	3	2	2	3	3	2	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:17952504G>A	ENST00000361221.3	+	14	1530	c.1371G>A	c.(1369-1371)aaG>aaA	p.K457K	ARHGEF10L_ENST00000167825.4_Intron|ARHGEF10L_ENST00000375408.3_Silent_p.K235K|ARHGEF10L_ENST00000375420.3_Silent_p.K215K|ARHGEF10L_ENST00000375415.1_Silent_p.K418K|ARHGEF10L_ENST00000469726.1_3'UTR|ARHGEF10L_ENST00000434513.1_Silent_p.K457K|ARHGEF10L_ENST00000452522.1_Silent_p.K418K	NM_018125.3	NP_060595	Q9HCE6	ARGAL_HUMAN	Rho guanine nucleotide exchange factor (GEF) 10-like	457	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.					cytoplasm (GO:0005737)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	43		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00598)|COAD - Colon adenocarcinoma(227;1.62e-05)|BRCA - Breast invasive adenocarcinoma(304;1.68e-05)|Kidney(64;0.000269)|KIRC - Kidney renal clear cell carcinoma(64;0.00361)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0718)|Lung(427;0.204)		TGATGGTCAAGCCCATCCAGA	0.607																																						ENST00000361221.3																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	43						c.(1369-1371)aaG>aaA		Rho guanine nucleotide exchange factor (GEF) 10-like							140	108	119					1																	17952504		2203	4300	6503	SO:0001819	synonymous_variant	55160				regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity	g.chr1:17952504G>A	AB046846	CCDS182.1, CCDS30617.1	1p36.13	2011-11-16			ENSG00000074964	ENSG00000074964		"Rho guanine nucleotide exchange factors"	25540	protein-coding gene	gene with protein product	"GrinchGEF"	612494				10997877, 16112081	Standard	XM_005245923		Approved	FLJ10521, KIAA1626	uc001ban.3	Q9HCE6	OTTHUMG00000002514	ENST00000361221.3:c.1371G>A	1.37:g.17952504G>A						ARHGEF10L_ENST00000375408.3_Silent_p.K235K|ARHGEF10L_ENST00000452522.1_Silent_p.K418K|ARHGEF10L_ENST00000469726.1_3'UTR|ARHGEF10L_ENST00000375420.3_Silent_p.K215K|ARHGEF10L_ENST00000375415.1_Silent_p.K418K|ARHGEF10L_ENST00000167825.4_Intron|ARHGEF10L_ENST00000434513.1_Silent_p.K457K	p.K457K	NM_018125.3	NP_060595.3	Q9HCE6	ARGAL_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00598)|COAD - Colon adenocarcinoma(227;1.62e-05)|BRCA - Breast invasive adenocarcinoma(304;1.68e-05)|Kidney(64;0.000269)|KIRC - Kidney renal clear cell carcinoma(64;0.00361)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0718)|Lung(427;0.204)	14	1530	+		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)	457			DH.		B7ZKS1|Q17RW1|Q3YFJ4|Q5VXI5|Q5VXI6|Q66K51|Q6P0L7|Q8NAV5|Q9NVT3	Silent	SNP	ENST00000361221.3	37	c.1371G>A	CCDS182.1																																																																																				0.607	ARHGEF10L-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000007147.1	NM_018125		15	34	0	0	0	1	0	15	34					A	17952504	G	A	17952504	2	1	435	1	0	0	0	0	0	0	0	1	895	962	34	3		3	ARHGEF10L	1	17952504	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	2990	17952504	231298117	124	21049											
IGSF21	84966	broad.mit.edu	37	chr1	18692021	18692021	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgctgggtccacagcgccgAgcccacctacttcctgcgcc	5	6	10	20	4	0	0	0	0	0	0	2	1	2	0	7	1	4	1	7	1	1	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:18692021A>G	ENST00000251296.1	+	6	1228	c.845A>G	c.(844-846)gAg>gGg	p.E282G		NM_032880.4	NP_116269.3	Q96ID5	IGS21_HUMAN	immunoglobin superfamily, member 21	282						extracellular region (GO:0005576)				endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	40		Colorectal(325;0.000147)|Renal(390;0.00145)|all_lung(284;0.00366)|Lung NSC(340;0.00376)|Breast(348;0.00387)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0121)|BRCA - Breast invasive adenocarcinoma(304;5.52e-05)|Kidney(64;0.00103)|KIRC - Kidney renal clear cell carcinoma(64;0.0102)|STAD - Stomach adenocarcinoma(196;0.0118)|READ - Rectum adenocarcinoma(331;0.157)		CACAGCGCCGAGCCCACCTAC	0.632																																						ENST00000251296.1																			0				endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	40						c.(844-846)gAg>gGg		immunoglobin superfamily, member 21							111	106	108					1																	18692021		2203	4300	6503	SO:0001583	missense	84966					extracellular region		g.chr1:18692021A>G	AK075316	CCDS184.1	1p36.13	2013-01-29			ENSG00000117154	ENSG00000117154		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	28246	protein-coding gene	gene with protein product						12477932	Standard	NM_032880		Approved	MGC15730, RP11-121A23.1	uc001bau.2	Q96ID5	OTTHUMG00000002432	ENST00000251296.1:c.845A>G	1.37:g.18692021A>G	ENSP00000251296:p.Glu282Gly						p.E282G	NM_032880.4	NP_116269.3	Q96ID5	IGS21_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0121)|BRCA - Breast invasive adenocarcinoma(304;5.52e-05)|Kidney(64;0.00103)|KIRC - Kidney renal clear cell carcinoma(64;0.0102)|STAD - Stomach adenocarcinoma(196;0.0118)|READ - Rectum adenocarcinoma(331;0.157)	6	1228	+		Colorectal(325;0.000147)|Renal(390;0.00145)|all_lung(284;0.00366)|Lung NSC(340;0.00376)|Breast(348;0.00387)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)	282					Q8NBR8	Missense_Mutation	SNP	ENST00000251296.1	37	c.845A>G	CCDS184.1	.	.	.	.	.	.	.	.	.	.	A	15.97	2.990040	0.54041	.	.	ENSG00000117154	ENST00000251296	T	0.56611	0.45	4.28	4.28	0.50868	.	0.205330	0.50627	D	0.000114	T	0.41650	0.1168	N	0.24115	0.695	0.52501	D	0.999956	P	0.47409	0.895	P	0.46362	0.514	T	0.15925	-1.0420	10	0.19147	T	0.46	-7.1286	12.6461	0.56735	1.0:0.0:0.0:0.0	.	282	Q96ID5	IGS21_HUMAN	G	282	ENSP00000251296:E282G	ENSP00000251296:E282G	E	+	2	0	IGSF21	18564608	1.000000	0.71417	0.978000	0.43139	0.993000	0.82548	5.371000	0.66150	1.929000	0.55896	0.459000	0.35465	GAG		0.632	IGSF21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006924.1	NM_032880		22	30	0	0	0	1	0	22	30					G	18692021	A	G	18692021	3	3	435	1	0	0	0	0	1	0	0	0	7599	304	11	4	867	4	IGSF21	1	18692021	Missense_Mutation	SNP	A	TCGA-XK-AAIW-01A-11D-A41K-08	739517	18692021	230558600	125	21050											
KLHDC7A	127707	broad.mit.edu	37	chr1	18807720	18807720	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctcctgagggggccaagacGtcggaggagcagcaagcggg	9	3	19	10	3	0	2	0	1	0	1	2	4	1	4	2	5	3	3	2	5	2	0	rs375012792		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:18807720G>A	ENST00000400664.1	+	1	297	c.245G>A	c.(244-246)cGt>cAt	p.R82H		NM_152375.2	NP_689588.2	Q5VTJ3	KLD7A_HUMAN	kelch domain containing 7A	82	Poly-Arg.					integral component of membrane (GO:0016021)				endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	22		Colorectal(325;3.46e-05)|all_lung(284;0.000152)|Lung NSC(340;0.000185)|Breast(348;0.00046)|Renal(390;0.000518)|Ovarian(437;0.0014)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.41e-05)|Kidney(64;0.00017)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		GGGCCAAGACGTCGGAGGAGC	0.642																																						ENST00000400664.1																			0				endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	22						c.(244-246)cGt>cAt		kelch domain containing 7A		G	HIS/ARG	1,4001		0,1,2000	18	21	20		245	4.7	0.4	1		20	0,8326		0,0,4163	no	missense	KLHDC7A	NM_152375.2	29	0,1,6163	AA,AG,GG		0.0,0.025,0.0081	probably-damaging	82/778	18807720	1,12327	2001	4163	6164	SO:0001583	missense	127707					integral to membrane		g.chr1:18807720G>A	AK096072	CCDS185.2	1p36.13	2008-02-05			ENSG00000179023	ENSG00000179023			26791	protein-coding gene	gene with protein product							Standard	NM_152375		Approved	FLJ38753	uc001bax.3	Q5VTJ3	OTTHUMG00000002431	ENST00000400664.1:c.245G>A	1.37:g.18807720G>A	ENSP00000383505:p.Arg82His						p.R82H	NM_152375.2	NP_689588.2	Q5VTJ3	KLD7A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.41e-05)|Kidney(64;0.00017)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	1	297	+		Colorectal(325;3.46e-05)|all_lung(284;0.000152)|Lung NSC(340;0.000185)|Breast(348;0.00046)|Renal(390;0.000518)|Ovarian(437;0.0014)|Myeloproliferative disorder(586;0.0255)	82			Poly-Arg.		Q8N8W6	Missense_Mutation	SNP	ENST00000400664.1	37	c.245G>A	CCDS185.2	.	.	.	.	.	.	.	.	.	.	G	23.0	4.363504	0.82353	2.5E-4	0.0	ENSG00000179023	ENST00000400664;ENST00000540290	T	0.77620	-1.11	5.63	4.72	0.59763	.	.	.	.	.	T	0.59059	0.2166	N	0.24115	0.695	0.24055	N	0.996032	P	0.47106	0.89	B	0.31101	0.124	T	0.56056	-0.8042	9	0.87932	D	0	.	9.2189	0.37364	0.1663:0.0:0.8337:0.0	.	82	Q5VTJ3	KLD7A_HUMAN	H	82;19	ENSP00000383505:R82H	ENSP00000383505:R82H	R	+	2	0	KLHDC7A	18680307	0.001000	0.12720	0.417000	0.26559	0.101000	0.19017	0.749000	0.26320	1.517000	0.48917	0.591000	0.81541	CGT		0.642	KLHDC7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006923.3	NM_152375		6	9	0	0	0	1	0	6	9					A	18807720	G	A	18807720	3	1	435	1	0	0	0	0	1	0	0	0	8360	1145	40	1	247	1	KLHDC7A	1	18807720	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	115699	18807720	230442901	126	21051											
TAS1R2	80834	broad.mit.edu	37	chr1	19181437	19181437	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tacgcagcaaagccgggaagCgcaccttgtctcgcagctca	10	6	11	14	4	2	0	1	0	1	0	3	1	2	1	2	1	5	5	2	1	3	2	rs567107786	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:19181437C>T	ENST00000375371.3	-	3	548	c.527G>A	c.(526-528)cGc>cAc	p.R176H	RP13-279N23.2_ENST00000494072.3_3'UTR	NM_152232.2	NP_689418.2	Q8TE23	TS1R2_HUMAN	taste receptor, type 1, member 2	176					detection of chemical stimulus involved in sensory perception of sweet taste (GO:0001582)|G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cytokinesis (GO:0032467)|sensory perception of sweet taste (GO:0050916)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	protein heterodimerization activity (GO:0046982)|taste receptor activity (GO:0008527)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(10)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(3)|stomach(1)	45		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;3.56e-05)|Kidney(64;0.000177)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	Aspartame(DB00168)	AGCCGGGAAGCGCACCTTGTC	0.632													C|||	2	0.000399361	0	0	5008	,	,		20772	0.002		0	False		,,,				2504	0					ENST00000375371.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(10)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(3)|stomach(1)	45						c.(526-528)cGc>cAc		taste receptor, type 1, member 2	Aspartame(DB00168)						50	49	49					1																	19181437		2203	4300	6503	SO:0001583	missense	80834				detection of chemical stimulus involved in sensory perception of sweet taste	plasma membrane	protein heterodimerization activity|taste receptor activity	g.chr1:19181437C>T		CCDS187.1	1p36.13	2012-08-22	2003-03-07		ENSG00000179002	ENSG00000179002		"Taste receptors / Type 1", "GPCR / Unclassified : Taste receptors"	14905	protein-coding gene	gene with protein product		606226	"G protein-coupled receptor 71"	GPR71			Standard	NM_152232		Approved	T1R2, TR2	uc001bba.1	Q8TE23	OTTHUMG00000002442	ENST00000375371.3:c.527G>A	1.37:g.19181437C>T	ENSP00000364520:p.Arg176His					RP13-279N23.2_ENST00000494072.3_3'UTR	p.R176H	NM_152232.2	NP_689418.2	Q8TE23	TS1R2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;3.56e-05)|Kidney(64;0.000177)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	3	548	-		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)	176					Q5TZ19	Missense_Mutation	SNP	ENST00000375371.3	37	c.527G>A	CCDS187.1	.	.	.	.	.	.	.	.	.	.	C	2.269	-0.367332	0.05069	.	.	ENSG00000179002	ENST00000375371	D	0.84800	-1.9	4.84	-2.44	0.06502	Extracellular ligand-binding receptor (1);	0.602886	0.13415	N	0.389553	T	0.73729	0.3624	L	0.43152	1.355	0.09310	N	1	B	0.22211	0.066	B	0.17722	0.019	T	0.61048	-0.7141	10	0.52906	T	0.07	.	3.543	0.07818	0.3941:0.284:0.0:0.3218	.	176	Q8TE23	TS1R2_HUMAN	H	176	ENSP00000364520:R176H	ENSP00000364520:R176H	R	-	2	0	TAS1R2	19054024	0.000000	0.05858	0.001000	0.08648	0.032000	0.12392	-0.366000	0.07563	-0.322000	0.08615	0.491000	0.48974	CGC		0.632	TAS1R2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000006953.1			8	21	0	0	0	1	0	8	21					T	19181437	C	T	19181437	3	4	435	1	0	0	0	0	1	0	0	0	15560	768	27	1	2008	1	TAS1R2	1	19181437	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	373717	19181437	230069184	127	21052											
ALDH4A1	8659	broad.mit.edu	37	chr1	19204062	19204062	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccgctcaccacgctctccaCgtcggccgagcggtgcacga	6	5	11	19	7	2	0	1	0	1	0	4	2	2	0	4	2	2	3	4	2	0	0	rs144311914		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:19204062C>T	ENST00000375341.3	-	10	1242	c.985G>A	c.(985-987)Gtg>Atg	p.V329M	ALDH4A1_ENST00000290597.5_Missense_Mutation_p.V329M|RP13-279N23.2_ENST00000494072.3_3'UTR|ALDH4A1_ENST00000538839.1_Missense_Mutation_p.V329M|ALDH4A1_ENST00000538309.1_Missense_Mutation_p.V269M	NM_003748.3	NP_003739.2	P30038	AL4A1_HUMAN	aldehyde dehydrogenase 4 family, member A1	329					4-hydroxyproline catabolic process (GO:0019470)|cellular nitrogen compound metabolic process (GO:0034641)|glutamate biosynthetic process (GO:0006537)|proline biosynthetic process (GO:0006561)|proline catabolic process (GO:0006562)|proline catabolic process to glutamate (GO:0010133)|proline metabolic process (GO:0006560)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)	1-pyrroline-5-carboxylate dehydrogenase activity (GO:0003842)|aldehyde dehydrogenase (NAD) activity (GO:0004029)|electron carrier activity (GO:0009055)|identical protein binding (GO:0042802)			cervix(2)|endometrium(1)|large_intestine(3)|lung(8)|prostate(1)	15		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00479)|BRCA - Breast invasive adenocarcinoma(304;3.67e-05)|Kidney(64;0.000182)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		ACGCTCTCCACGTCGGCCGAG	0.667																																						ENST00000375341.3																			0				cervix(2)|endometrium(1)|large_intestine(3)|lung(8)|prostate(1)	15						c.(985-987)Gtg>Atg		aldehyde dehydrogenase 4 family, member A1	NADH(DB00157)	C	MET/VAL,MET/VAL,MET/VAL	0,4406		0,0,2203	30	30	30		805,985,985	4.7	1	1	dbSNP_134	30	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	ALDH4A1	NM_001161504.1,NM_003748.3,NM_170726.2	21,21,21	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging,possibly-damaging	269/504,329/564,329/564	19204062	1,13005	2203	4300	6503	SO:0001583	missense	8659				proline biosynthetic process|proline catabolic process	mitochondrial matrix	1-pyrroline-5-carboxylate dehydrogenase activity|aldehyde dehydrogenase (NAD) activity|electron carrier activity	g.chr1:19204062C>T	U24266	CCDS188.1, CCDS53272.1	1p36	2008-02-05			ENSG00000159423	ENSG00000159423	1.5.1.12	"Aldehyde dehydrogenases"	406	protein-coding gene	gene with protein product		606811		ALDH4		8621661	Standard	NM_003748		Approved	P5CDh	uc001bbc.3	P30038	OTTHUMG00000002443	ENST00000375341.3:c.985G>A	1.37:g.19204062C>T	ENSP00000364490:p.Val329Met					RP13-279N23.2_ENST00000494072.3_3'UTR|ALDH4A1_ENST00000538309.1_Missense_Mutation_p.V269M|ALDH4A1_ENST00000538839.1_Missense_Mutation_p.V329M|ALDH4A1_ENST00000290597.5_Missense_Mutation_p.V329M	p.V329M	NM_003748.3	NP_003739.2	P30038	AL4A1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00479)|BRCA - Breast invasive adenocarcinoma(304;3.67e-05)|Kidney(64;0.000182)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	10	1242	-		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)	329					A8K1Q7|B4DGE4|D2D4A3|Q16882|Q53HU4|Q5JNV6|Q8IZ38|Q96IF0|Q9UDI6	Missense_Mutation	SNP	ENST00000375341.3	37	c.985G>A	CCDS188.1	.	.	.	.	.	.	.	.	.	.	C	14.87	2.665245	0.47677	0.0	1.16E-4	ENSG00000159423	ENST00000290597;ENST00000375341;ENST00000538839;ENST00000538309	T;T;T;T	0.78126	-1.15;-1.15;-1.15;-1.15	4.66	4.66	0.58398	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, C-terminal (1);Aldehyde/histidinol dehydrogenase (1);	0.137758	0.48286	D	0.000195	T	0.78935	0.4362	M	0.83692	2.655	0.80722	D	1	P	0.51791	0.948	B	0.39379	0.298	D	0.84661	0.0706	10	0.72032	D	0.01	-29.0447	16.1125	0.81273	0.0:1.0:0.0:0.0	.	329	P30038	AL4A1_HUMAN	M	329;329;329;269	ENSP00000290597:V329M;ENSP00000364490:V329M;ENSP00000446071:V329M;ENSP00000442988:V269M	ENSP00000290597:V329M	V	-	1	0	ALDH4A1	19076649	1.000000	0.71417	0.986000	0.45419	0.083000	0.17756	4.400000	0.59709	2.153000	0.67306	0.561000	0.74099	GTG		0.667	ALDH4A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006954.1			4	10	0	0	0	1	0	4	10					T	19204062	C	T	19204062	3	4	435	1	0	0	0	0	1	0	0	0	501	536	19	1	730	1	ALDH4A1	1	19204062	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	22625	19204062	230046559	128	21053											
KIAA0090	23065	broad.mit.edu	37	chr1	19559589	19559589	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	catgcttgcagcaggataagCtgagacgagaggcgtttcag	11	8	14	8	2	1	2	1	1	0	2	1	5	1	3	0	2	4	5	0	2	1	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:19559589C>T	ENST00000477853.1	-	14	1515	c.1473G>A	c.(1471-1473)caG>caA	p.Q491Q	RP1-43E13.2_ENST00000437898.1_RNA|EMC1_ENST00000375208.3_Silent_p.Q469Q|EMC1_ENST00000375199.3_Silent_p.Q490Q	NM_001271427.1|NM_001271428.1|NM_015047.2	NP_001258356.1|NP_001258357.1|NP_055862.1	Q8N766	EMC1_HUMAN	ER membrane protein complex subunit 1	491						ER membrane protein complex (GO:0072546)|integral component of membrane (GO:0016021)											GCAGGATAAGCTGAGACGAGA	0.473																																						ENST00000477853.1																			0											c.(1471-1473)caG>caA		ER membrane protein complex subunit 1							80	84	83					1																	19559589		2203	4300	6503	SO:0001819	synonymous_variant	23065							g.chr1:19559589C>T		CCDS190.1, CCDS59190.1, CCDS59191.1	1p36.13	2012-05-23	2012-05-23	2012-05-23	ENSG00000127463	ENSG00000127463			28957	protein-coding gene	gene with protein product			"KIAA0090"	KIAA0090		22119785	Standard	NM_015047		Approved		uc001bbo.4	Q8N766	OTTHUMG00000002497	ENST00000477853.1:c.1473G>A	1.37:g.19559589C>T						RP1-43E13.2_ENST00000437898.1_RNA|EMC1_ENST00000375199.3_Silent_p.Q490Q|EMC1_ENST00000375208.3_Silent_p.Q469Q	p.Q491Q	NM_001271428.1|NM_015047.1	NP_001258357.1|NP_055862.1					14	1515	-								A8K6F3|Q14700|Q5TG62|Q63HL0|Q63HL3|Q8NBH8	Silent	SNP	ENST00000477853.1	37	c.1473G>A	CCDS190.1	.	.	.	.	.	.	.	.	.	.	C	9.365	1.069093	0.20147	.	.	ENSG00000127463	ENST00000375197	.	.	.	5.27	5.27	0.74061	.	.	.	.	.	T	0.73946	0.3652	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.72010	-0.4419	4	.	.	.	.	17.6394	0.88131	0.0:1.0:0.0:0.0	.	.	.	.	T	225	.	.	A	-	1	0	KIAA0090	19432176	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	5.594000	0.67557	2.735000	0.93741	0.655000	0.94253	GCT		0.473	EMC1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000007076.2	NM_015047		25	46	0	0	0	1	0	25	46					T	19559589	C	T	19559589	2	4	435	1	0	0	0	0	0	0	0	1	8153	796	28	3		3	KIAA0090	1	19559589	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	355527	19559589	229691032	129	21054											
KIAA0090	23065	broad.mit.edu	37	chr1	19568918	19568918	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgtagtcttcttcaggactgCgatgtaccttacagactcct	8	14	8	11	1	3	1	1	0	2	1	4	3	4	2	2	1	3	2	2	1	3	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:19568918C>T	ENST00000477853.1	-	5	472	c.430G>A	c.(430-432)Gca>Aca	p.A144T	RP1-43E13.2_ENST00000437898.1_RNA|EMC1_ENST00000375208.3_Missense_Mutation_p.A122T|EMC1_ENST00000375199.3_Missense_Mutation_p.A144T	NM_001271427.1|NM_001271428.1|NM_015047.2	NP_001258356.1|NP_001258357.1|NP_055862.1	Q8N766	EMC1_HUMAN	ER membrane protein complex subunit 1	144						ER membrane protein complex (GO:0072546)|integral component of membrane (GO:0016021)											TTCAGGACTGCGATGTACCTT	0.562																																						ENST00000477853.1																			0											c.(430-432)Gca>Aca		ER membrane protein complex subunit 1							156	132	140					1																	19568918		2203	4300	6503	SO:0001583	missense	23065							g.chr1:19568918C>T		CCDS190.1, CCDS59190.1, CCDS59191.1	1p36.13	2012-05-23	2012-05-23	2012-05-23	ENSG00000127463	ENSG00000127463			28957	protein-coding gene	gene with protein product			"KIAA0090"	KIAA0090		22119785	Standard	NM_015047		Approved		uc001bbo.4	Q8N766	OTTHUMG00000002497	ENST00000477853.1:c.430G>A	1.37:g.19568918C>T	ENSP00000420608:p.Ala144Thr					EMC1_ENST00000375199.3_Missense_Mutation_p.A144T|EMC1_ENST00000375208.3_Missense_Mutation_p.A122T	p.A144T	NM_001271428.1|NM_015047.1	NP_001258357.1|NP_055862.1					5	472	-								A8K6F3|Q14700|Q5TG62|Q63HL0|Q63HL3|Q8NBH8	Missense_Mutation	SNP	ENST00000477853.1	37	c.430G>A	CCDS190.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.031330	0.75504	.	.	ENSG00000127463	ENST00000477853;ENST00000375199;ENST00000375208	T;T;T	0.55760	1.59;0.5;1.77	6.08	6.08	0.98989	Quinonprotein alcohol dehydrogenase-like (2);	0.044969	0.85682	D	0.000000	T	0.63943	0.2554	L	0.55103	1.725	0.80722	D	1	D;D;D;D	0.67145	0.975;0.975;0.995;0.996	P;P;P;P	0.57911	0.482;0.482;0.738;0.829	T	0.53927	-0.8369	10	0.18710	T	0.47	-21.4919	19.2273	0.93822	0.0:1.0:0.0:0.0	.	122;144;144;144	Q8N766-4;Q8N766-2;Q8N766-3;Q8N766	.;.;.;K0090_HUMAN	T	144;144;122	ENSP00000420608:A144T;ENSP00000364345:A144T;ENSP00000364354:A122T	ENSP00000364345:A144T	A	-	1	0	KIAA0090	19441505	1.000000	0.71417	0.268000	0.24571	0.293000	0.27360	7.409000	0.80053	2.894000	0.99253	0.655000	0.94253	GCA		0.562	EMC1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000007076.2	NM_015047		4	48	0	0	0	1	0	4	48					T	19568918	C	T	19568918	3	4	435	1	0	0	0	0	1	0	0	0	8153	768	27	1	2627	1	KIAA0090	1	19568918	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	9329	19568918	229681703	130	21055											
AKR7L	246181	broad.mit.edu	37	chr1	19600455	19600455	+	RNA	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgtctatctcggtgtggccGcgctccaggaaggcgcgcgt	4	9	16	12	6	2	0	0	0	2	0	4	1	3	1	2	4	0	1	2	4	2	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:19600455G>A	ENST00000429712.1	-	0	233				AKR7L_ENST00000420396.2_RNA			Q8NHP1	ARK74_HUMAN	aldo-keto reductase family 7-like							extracellular vesicular exosome (GO:0070062)	oxidoreductase activity (GO:0016491)			breast(1)|endometrium(2)|ovary(1)|prostate(1)|urinary_tract(1)	6						CGGTGTGGCCGCGCTCCAGGA	0.716																																						ENST00000420396.2																			0				breast(1)|endometrium(2)|ovary(1)|prostate(1)|urinary_tract(1)	6								aldo-keto reductase family 7-like							29	31	31					1																	19600455		690	1591	2281			246181							g.chr1:19600455G>A			1p36.1-p35	2008-12-09			ENSG00000211454	ENSG00000211454			24056	protein-coding gene	gene with protein product		608478				12879023	Standard	NR_040288		Approved	AFAR3	uc021ohn.1	Q8NHP1	OTTHUMG00000002520		1.37:g.19600455G>A						AKR7L_ENST00000429712.1_RNA								0	113	-								Q5U614	RNA	SNP	ENST00000429712.1	37																																																																																						0.716	AKR7L-001	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000007163.3	NM_201252		3	1	0	0	0	1	0	3	1					A	19600455	G	A	19600455	1	1	435	0	1	0	0	0	0	0	0	0	477	1074	38	1		1	AKR7L	1	19600455	RNA	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	31537	19600455	229650166	131	21056											
AKR7A2	8574	broad.mit.edu	37	chr1	19632609	19632609	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcagggccttctccaccaacGcaatggcctcgaagtggtgc	8	7	12	14	2	1	0	0	0	1	0	3	1	1	0	4	3	2	2	4	3	3	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:19632609G>A	ENST00000235835.3	-	6	842	c.821C>T	c.(820-822)gCg>gTg	p.A274V	RNU6-1099P_ENST00000363533.1_RNA	NM_003689.3	NP_003680.2	O43488	ARK72_HUMAN	aldo-keto reductase family 7, member A2 (aflatoxin aldehyde reductase)	274					carbohydrate metabolic process (GO:0005975)|cellular aldehyde metabolic process (GO:0006081)|daunorubicin metabolic process (GO:0044597)|doxorubicin metabolic process (GO:0044598)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)	alditol:NADP+ 1-oxidoreductase activity (GO:0004032)|electron carrier activity (GO:0009055)|phenanthrene-9,10-epoxide hydrolase activity (GO:0019119)			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	9		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00049)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00461)|BRCA - Breast invasive adenocarcinoma(304;1.83e-05)|Kidney(64;0.000167)|GBM - Glioblastoma multiforme(114;0.00115)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		CTCCACCAACGCAATGGCCTC	0.617																																						ENST00000235835.3																			0				central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	9						c.(820-822)gCg>gTg		aldo-keto reductase family 7, member A2 (aflatoxin aldehyde reductase)							86	79	82					1																	19632609		2203	4300	6503	SO:0001583	missense	8574				carbohydrate metabolic process|cellular aldehyde metabolic process	Golgi apparatus	alditol:NADP+ 1-oxidoreductase activity|electron carrier activity	g.chr1:19632609G>A	AF026947	CCDS194.1	1p36.13	2010-09-30			ENSG00000053371	ENSG00000053371		"Aldo-keto reductases"	389	protein-coding gene	gene with protein product		603418				9576847	Standard	NM_003689		Approved	AFAR	uc001bbw.3	O43488	OTTHUMG00000002522	ENST00000235835.3:c.821C>T	1.37:g.19632609G>A	ENSP00000235835:p.Ala274Val						p.A274V	NM_003689.3	NP_003680.2	O43488	ARK72_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00461)|BRCA - Breast invasive adenocarcinoma(304;1.83e-05)|Kidney(64;0.000167)|GBM - Glioblastoma multiforme(114;0.00115)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	6	842	-		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00049)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)	274					O75749|Q5TG63	Missense_Mutation	SNP	ENST00000235835.3	37	c.821C>T	CCDS194.1	.	.	.	.	.	.	.	.	.	.	G	14.92	2.678709	0.47886	.	.	ENSG00000053371	ENST00000235835;ENST00000330072;ENST00000489286	T;T	0.25579	1.79;1.79	3.84	1.92	0.25849	NADP-dependent oxidoreductase domain (3);	0.171939	0.50627	D	0.000113	T	0.19485	0.0468	L	0.58428	1.81	0.27345	N	0.956403	P	0.52577	0.954	B	0.40506	0.331	T	0.13361	-1.0512	10	0.30854	T	0.27	.	4.7249	0.12936	0.1057:0.0:0.5132:0.381	.	274	O43488	ARK72_HUMAN	V	274;229;136	ENSP00000235835:A274V;ENSP00000339084:A229V	ENSP00000235835:A274V	A	-	2	0	AKR7A2	19505196	0.994000	0.37717	0.986000	0.45419	0.922000	0.55478	1.536000	0.36072	0.396000	0.25283	0.561000	0.74099	GCG		0.617	AKR7A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007165.2	NM_003689		6	35	0	0	0	1	0	6	35					A	19632609	G	A	19632609	3	1	435	1	0	0	0	0	1	0	0	0	475	1087	38	1	266	1	AKR7A2	1	19632609	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	32154	19632609	229618012	132	21057											
RNF186	54546	broad.mit.edu	37	chr1	20141347	20141347	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cggtgaccttgcggcacagcGggcaggtgatggaccaggtg	7	6	18	10	3	0	2	0	2	0	0	0	3	0	3	2	6	2	2	2	6	0	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:20141347G>A	ENST00000375121.2	-	1	424	c.248C>T	c.(247-249)cCg>cTg	p.P83L	RP11-91K11.2_ENST00000454736.1_RNA	NM_019062.1	NP_061935.1	Q9NXI6	RN186_HUMAN	ring finger protein 186	83						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			kidney(1)|lung(3)|urinary_tract(1)	5		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00459)|Lung NSC(340;0.00475)|Breast(348;0.00526)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|COAD - Colon adenocarcinoma(152;1.07e-05)|BRCA - Breast invasive adenocarcinoma(304;7.77e-05)|Kidney(64;0.000162)|GBM - Glioblastoma multiforme(114;0.00036)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		GCGGCACAGCGGGCAGGTGAT	0.682																																						ENST00000375121.2																			0				kidney(1)|lung(3)|urinary_tract(1)	5						c.(247-249)cCg>cTg		ring finger protein 186							48	46	47					1																	20141347		2203	4300	6503	SO:0001583	missense	54546					integral to membrane	zinc ion binding	g.chr1:20141347G>A		CCDS199.1	1p36.13	2008-02-05			ENSG00000178828	ENSG00000178828		"RING-type (C3HC4) zinc fingers"	25978	protein-coding gene	gene with protein product	"hypothetical protein FLJ20225"					12477932	Standard	NM_019062		Approved	FLJ20225	uc001bcr.3	Q9NXI6	OTTHUMG00000002709	ENST00000375121.2:c.248C>T	1.37:g.20141347G>A	ENSP00000364263:p.Pro83Leu					RP11-91K11.2_ENST00000454736.1_RNA	p.P83L	NM_019062.1	NP_061935.1	Q9NXI6	RN186_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|COAD - Colon adenocarcinoma(152;1.07e-05)|BRCA - Breast invasive adenocarcinoma(304;7.77e-05)|Kidney(64;0.000162)|GBM - Glioblastoma multiforme(114;0.00036)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	1	424	-		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00459)|Lung NSC(340;0.00475)|Breast(348;0.00526)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)	83					Q53GE0	Missense_Mutation	SNP	ENST00000375121.2	37	c.248C>T	CCDS199.1	.	.	.	.	.	.	.	.	.	.	G	32	5.118317	0.94385	.	.	ENSG00000178828	ENST00000375121	D	0.94576	-3.46	5.84	5.84	0.93424	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);	0.000000	0.64402	D	0.000011	D	0.98096	0.9372	M	0.93283	3.4	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98771	1.0728	10	0.87932	D	0	-21.7518	18.7019	0.91623	0.0:0.0:1.0:0.0	.	83	Q9NXI6	RN186_HUMAN	L	83	ENSP00000364263:P83L	ENSP00000364263:P83L	P	-	2	0	RNF186	20013934	1.000000	0.71417	0.997000	0.53966	0.964000	0.63967	7.770000	0.85390	2.763000	0.94921	0.650000	0.86243	CCG		0.682	RNF186-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007694.1	NM_019062		21	29	0	0	0	1	0	21	29					A	20141347	G	A	20141347	3	1	435	1	0	0	0	0	1	0	0	0	13469	1116	39	2	439	2	RNF186	1	20141347	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	508738	20141347	229109274	133	21058											
OTUD3	23252	broad.mit.edu	37	chr1	20220882	20220882	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ggccagtttggcaaagcctgGtacttttgctggcaatgatg	8	12	13	8	0	0	1	0	1	0	0	0	1	0	1	2	4	3	5	2	4	3	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:20220882G>A	ENST00000375120.3	+	3	393	c.392G>A	c.(391-393)gGt>gAt	p.G131D	OTUD3_ENST00000466697.1_3'UTR	NM_015207.1	NP_056022.1	Q5T2D3	OTUD3_HUMAN	OTU deubiquitinase 3	131	OTU. {ECO:0000255|PROSITE- ProRule:PRU00139}.|Variable-loop.				protein K11-linked deubiquitination (GO:0035871)|protein K6-linked deubiquitination (GO:0044313)		ubiquitin-specific protease activity (GO:0004843)			breast(1)|kidney(2)|large_intestine(4)|lung(1)|skin(1)	9		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000276)|Lung NSC(340;0.000338)|Breast(348;0.000812)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|COAD - Colon adenocarcinoma(152;1.12e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000142)|Kidney(64;0.000177)|GBM - Glioblastoma multiforme(114;0.000408)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		GCAAAGCCTGGTACTTTTGCT	0.398																																						ENST00000375120.3																			0				breast(1)|kidney(2)|large_intestine(4)|lung(1)|skin(1)	9						c.(391-393)gGt>gAt		OTU domain containing 3							140	131	134					1																	20220882		1872	4106	5978	SO:0001583	missense	23252							g.chr1:20220882G>A	AB007928	CCDS41279.1	1p36.13	2014-02-24	2014-02-24		ENSG00000169914	ENSG00000169914		"OTU domain containing"	29038	protein-coding gene	gene with protein product		611758	"OTU domain containing 3"			9455484, 23827681	Standard	NM_015207		Approved	KIAA0459, DUBA4	uc001bcs.4	Q5T2D3	OTTHUMG00000002696	ENST00000375120.3:c.392G>A	1.37:g.20220882G>A	ENSP00000364261:p.Gly131Asp					OTUD3_ENST00000466697.1_3'UTR	p.G131D	NM_015207.1	NP_056022.1	Q5T2D3	OTUD3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|COAD - Colon adenocarcinoma(152;1.12e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000142)|Kidney(64;0.000177)|GBM - Glioblastoma multiforme(114;0.000408)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	3	393	+		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000276)|Lung NSC(340;0.000338)|Breast(348;0.000812)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)	131			OTU.		O75047	Missense_Mutation	SNP	ENST00000375120.3	37	c.392G>A	CCDS41279.1	.	.	.	.	.	.	.	.	.	.	G	32	5.187836	0.94923	.	.	ENSG00000169914	ENST00000375120	T	0.32272	1.46	5.92	5.92	0.95590	Ovarian tumour, otubain (2);	0.000000	0.85682	D	0.000000	T	0.64929	0.2643	M	0.90198	3.095	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.67577	-0.5635	10	0.45353	T	0.12	.	18.8852	0.92375	0.0:0.0:1.0:0.0	.	131	Q5T2D3	OTUD3_HUMAN	D	131	ENSP00000364261:G131D	ENSP00000364261:G131D	G	+	2	0	OTUD3	20093469	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.628000	0.90979	2.804000	0.96469	0.655000	0.94253	GGT		0.398	OTUD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007655.1			19	32	0	0	0	1	0	19	32					A	20220882	G	A	20220882	3	1	435	1	0	0	0	0	1	0	0	0	11313	1261	44	3	402	3	OTUD3	1	20220882	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	79535	20220882	229029739	134	21059											
PLA2G5	5322	broad.mit.edu	37	chr1	20412585	20412585	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctatcttccaggtgtgcctgCtgtgcaaggaggcttgctgg	5	12	14	10	0	1	0	0	0	1	0	2	1	2	1	2	4	4	4	2	4	2	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:20412585C>T	ENST00000375108.3	+	3	318	c.50C>T	c.(49-51)gCt>gTt	p.A17V	PLA2G5_ENST00000486277.1_3'UTR	NM_000929.2	NP_000920.1	P39877	PA2G5_HUMAN	phospholipase A2, group V	17					arachidonic acid secretion (GO:0050482)|glycerophospholipid biosynthetic process (GO:0046474)|leukotriene biosynthetic process (GO:0019370)|lipid catabolic process (GO:0016042)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid metabolic process (GO:0006644)|platelet activating factor biosynthetic process (GO:0006663)|response to cAMP (GO:0051591)|response to cytokine (GO:0034097)|small molecule metabolic process (GO:0044281)	cell surface (GO:0009986)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent phospholipase A2 activity (GO:0047498)|heparin binding (GO:0008201)			NS(1)|large_intestine(1)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	14		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000249)|Lung NSC(340;0.000287)|Breast(348;0.000812)|Ovarian(437;0.00328)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(152;1.22e-05)|BRCA - Breast invasive adenocarcinoma(304;8.15e-05)|Kidney(64;0.000184)|GBM - Glioblastoma multiforme(114;0.00089)|KIRC - Kidney renal clear cell carcinoma(64;0.0027)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0652)		GGTGTGCCTGCTGTGCAAGGA	0.577																																						ENST00000375108.3																			0				NS(1)|large_intestine(1)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	14						c.(49-51)gCt>gTt		phospholipase A2, group V							88	74	79					1																	20412585		2203	4300	6503	SO:0001583	missense	5322				lipid catabolic process	extracellular region	calcium ion binding|calcium-dependent phospholipase A2 activity	g.chr1:20412585C>T	U03090	CCDS202.1	1p36-p34	2008-09-19			ENSG00000127472	ENSG00000127472	3.1.1.4		9038	protein-coding gene	gene with protein product		601192				8838795, 8300559	Standard	NM_000929		Approved		uc001bcy.3	P39877	OTTHUMG00000002698	ENST00000375108.3:c.50C>T	1.37:g.20412585C>T	ENSP00000364249:p.Ala17Val					PLA2G5_ENST00000486277.1_3'UTR	p.A17V	NM_000929.2	NP_000920.1	P39877	PA2G5_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(152;1.22e-05)|BRCA - Breast invasive adenocarcinoma(304;8.15e-05)|Kidney(64;0.000184)|GBM - Glioblastoma multiforme(114;0.00089)|KIRC - Kidney renal clear cell carcinoma(64;0.0027)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0652)	3	318	+		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000249)|Lung NSC(340;0.000287)|Breast(348;0.000812)|Ovarian(437;0.00328)|Myeloproliferative disorder(586;0.0255)	17					Q8N435	Missense_Mutation	SNP	ENST00000375108.3	37	c.50C>T	CCDS202.1	.	.	.	.	.	.	.	.	.	.	C	14.24	2.477148	0.44044	.	.	ENSG00000127472	ENST00000375108	T	0.26660	1.72	5.25	1.13	0.20643	.	1.061990	0.07319	N	0.877320	T	0.16557	0.0398	N	0.25825	0.765	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.31280	-0.9949	10	0.59425	D	0.04	-0.6188	3.1617	0.06522	0.1886:0.5163:0.0:0.2952	.	17	P39877	PA2G5_HUMAN	V	17	ENSP00000364249:A17V	ENSP00000364249:A17V	A	+	2	0	PLA2G5	20285172	0.000000	0.05858	0.290000	0.24890	0.942000	0.58702	-0.178000	0.09782	0.725000	0.32318	0.650000	0.86243	GCT		0.577	PLA2G5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007668.1	NM_000929		9	15	0	0	0	1	0	9	15					T	20412585	C	T	20412585	3	4	435	1	0	0	0	0	1	0	0	0	12007	797	28	3	56	3	PLA2G5	1	20412585	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	191703	20412585	228838036	135	21060											
MUL1	79594	broad.mit.edu	37	chr1	20827309	20827309	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccacactccagaaagacgcaGgacttgaagctgctcagaca	14	5	9	13	1	1	4	1	1	0	3	2	5	2	5	2	1	2	3	2	1	2	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:20827309G>T	ENST00000264198.3	-	4	1069	c.933C>A	c.(931-933)tcC>tcA	p.S311S		NM_024544.2	NP_078820.2	Q969V5	MUL1_HUMAN	mitochondrial E3 ubiquitin protein ligase 1	311					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of JUN kinase activity (GO:0007257)|cellular response to exogenous dsRNA (GO:0071360)|mitochondrial fission (GO:0000266)|mitochondrion localization (GO:0051646)|negative regulation of cell growth (GO:0030308)|negative regulation of chemokine (C-C motif) ligand 5 production (GO:0071650)|negative regulation of defense response to virus by host (GO:0050689)|negative regulation of innate immune response (GO:0045824)|negative regulation of mitochondrial fusion (GO:0010637)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of type I interferon-mediated signaling pathway (GO:0060339)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of mitochondrial fission (GO:0090141)|positive regulation of protein sumoylation (GO:0033235)|protein stabilization (GO:0050821)|protein sumoylation (GO:0016925)|protein ubiquitination (GO:0016567)|regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway (GO:1901028)	cytoplasm (GO:0005737)|integral component of mitochondrial outer membrane (GO:0031307)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|peroxisome (GO:0005777)	identical protein binding (GO:0042802)|signal transducer activity (GO:0004871)|SUMO ligase activity (GO:0019789)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(4)|lung(5)	11		Colorectal(325;0.000147)|Renal(390;0.000469)|Lung NSC(340;0.00412)|all_lung(284;0.00419)|Breast(348;0.00748)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|COAD - Colon adenocarcinoma(152;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000137)|Kidney(64;0.00017)|GBM - Glioblastoma multiforme(114;0.00124)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.198)		GAAAGACGCAGGACTTGAAGC	0.597																																						ENST00000264198.3																			0				endometrium(2)|large_intestine(4)|lung(5)	11						c.(931-933)tcC>tcA		mitochondrial E3 ubiquitin protein ligase 1							90	76	81					1																	20827309		2203	4300	6503	SO:0001819	synonymous_variant	79594				activation of caspase activity|activation of JUN kinase activity|induction of apoptosis|mitochondrial fission|mitochondrion localization|negative regulation of cell growth|positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to mitochondrial outer membrane|nucleus|peroxisome	identical protein binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding	g.chr1:20827309G>T	BC014010	CCDS208.1	1p36.12	2013-01-11	2010-09-17	2008-03-26	ENSG00000090432	ENSG00000090432		"RING-type (C3HC4) zinc fingers"	25762	protein-coding gene	gene with protein product	"ring finger protein 218", "mitochondria-anchored protein ligase", "growth inhibition and death E3 ligase", "mitochondrial ubiquitin ligase activator of NFKB 1"	612037	"chromosome 1 open reading frame 166"	C1orf166		18591963, 12761501, 18213395, 18207745	Standard	NM_024544		Approved	FLJ12875, MULAN, RNF218, MAPL, GIDE	uc001bdi.4	Q969V5	OTTHUMG00000002838	ENST00000264198.3:c.933C>A	1.37:g.20827309G>T							p.S311S	NM_024544.2	NP_078820.2	Q969V5	MUL1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|COAD - Colon adenocarcinoma(152;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000137)|Kidney(64;0.00017)|GBM - Glioblastoma multiforme(114;0.00124)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.198)	4	1069	-		Colorectal(325;0.000147)|Renal(390;0.000469)|Lung NSC(340;0.00412)|all_lung(284;0.00419)|Breast(348;0.00748)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)	311					B5M497|Q7Z431|Q9H9B5	Silent	SNP	ENST00000264198.3	37	c.933C>A	CCDS208.1																																																																																				0.597	MUL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007951.1	NM_024544		8	13	1	0	2.17888e-05	1	2.24846e-05	8	13					T	20827309	G	T	20827309	2	4	435	1	0	0	0	0	0	0	0	1	9984	987	35	5		5	MUL1	1	20827309	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	414724	20827309	228423312	136	21061											
MUL1	79594	broad.mit.edu	37	chr1	20828657	20828657	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tccacaaactggctgttaagCgtttctttaacagaccgcac	11	11	7	12	2	1	1	0	0	1	1	2	1	2	1	2	1	3	4	2	1	3	4	rs201039729		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:20828657C>T	ENST00000264198.3	-	3	370	c.234G>A	c.(232-234)acG>acA	p.T78T		NM_024544.2	NP_078820.2	Q969V5	MUL1_HUMAN	mitochondrial E3 ubiquitin protein ligase 1	78					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of JUN kinase activity (GO:0007257)|cellular response to exogenous dsRNA (GO:0071360)|mitochondrial fission (GO:0000266)|mitochondrion localization (GO:0051646)|negative regulation of cell growth (GO:0030308)|negative regulation of chemokine (C-C motif) ligand 5 production (GO:0071650)|negative regulation of defense response to virus by host (GO:0050689)|negative regulation of innate immune response (GO:0045824)|negative regulation of mitochondrial fusion (GO:0010637)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of type I interferon-mediated signaling pathway (GO:0060339)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of mitochondrial fission (GO:0090141)|positive regulation of protein sumoylation (GO:0033235)|protein stabilization (GO:0050821)|protein sumoylation (GO:0016925)|protein ubiquitination (GO:0016567)|regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway (GO:1901028)	cytoplasm (GO:0005737)|integral component of mitochondrial outer membrane (GO:0031307)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|peroxisome (GO:0005777)	identical protein binding (GO:0042802)|signal transducer activity (GO:0004871)|SUMO ligase activity (GO:0019789)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(4)|lung(5)	11		Colorectal(325;0.000147)|Renal(390;0.000469)|Lung NSC(340;0.00412)|all_lung(284;0.00419)|Breast(348;0.00748)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|COAD - Colon adenocarcinoma(152;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000137)|Kidney(64;0.00017)|GBM - Glioblastoma multiforme(114;0.00124)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.198)		GGCTGTTAAGCGTTTCTTTAA	0.428													C|||	1	0.000199681	0	0	5008	,	,		20288	0		0.001	False		,,,				2504	0					ENST00000264198.3																			0				endometrium(2)|large_intestine(4)|lung(5)	11						c.(232-234)acG>acA		mitochondrial E3 ubiquitin protein ligase 1							104	103	103					1																	20828657		2203	4300	6503	SO:0001819	synonymous_variant	79594				activation of caspase activity|activation of JUN kinase activity|induction of apoptosis|mitochondrial fission|mitochondrion localization|negative regulation of cell growth|positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to mitochondrial outer membrane|nucleus|peroxisome	identical protein binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding	g.chr1:20828657C>T	BC014010	CCDS208.1	1p36.12	2013-01-11	2010-09-17	2008-03-26	ENSG00000090432	ENSG00000090432		"RING-type (C3HC4) zinc fingers"	25762	protein-coding gene	gene with protein product	"ring finger protein 218", "mitochondria-anchored protein ligase", "growth inhibition and death E3 ligase", "mitochondrial ubiquitin ligase activator of NFKB 1"	612037	"chromosome 1 open reading frame 166"	C1orf166		18591963, 12761501, 18213395, 18207745	Standard	NM_024544		Approved	FLJ12875, MULAN, RNF218, MAPL, GIDE	uc001bdi.4	Q969V5	OTTHUMG00000002838	ENST00000264198.3:c.234G>A	1.37:g.20828657C>T							p.T78T	NM_024544.2	NP_078820.2	Q969V5	MUL1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|COAD - Colon adenocarcinoma(152;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000137)|Kidney(64;0.00017)|GBM - Glioblastoma multiforme(114;0.00124)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.198)	3	370	-		Colorectal(325;0.000147)|Renal(390;0.000469)|Lung NSC(340;0.00412)|all_lung(284;0.00419)|Breast(348;0.00748)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)	78					B5M497|Q7Z431|Q9H9B5	Silent	SNP	ENST00000264198.3	37	c.234G>A	CCDS208.1																																																																																				0.428	MUL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007951.1	NM_024544		8	105	0	0	0	1	0	8	105					T	20828657	C	T	20828657	2	4	435	1	0	0	0	0	0	0	0	1	9984	755	27	1		1	MUL1	1	20828657	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	1348	20828657	228421964	137	21062											
DDOST	1650	broad.mit.edu	37	chr1	20982022	20982022	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcagtgtcagccacgatgagCgtatgctgcaaagagtagat	12	9	12	8	2	2	3	2	1	0	2	2	4	2	3	1	0	4	4	1	0	3	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:20982022C>T	ENST00000375048.3	-	5	618	c.513G>A	c.(511-513)acG>acA	p.T171T	DDOST_ENST00000602624.2_Silent_p.T154T|DDOST_ENST00000415136.2_Silent_p.T134T	NM_005216.4	NP_005207	P39656	OST48_HUMAN	dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit (non-catalytic)	171					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|innate immune response (GO:0045087)|post-translational protein modification (GO:0043687)|protein glycosylation (GO:0006486)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)|response to cytokine (GO:0034097)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|T cell activation (GO:0042110)|translation (GO:0006412)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|oligosaccharyltransferase complex (GO:0008250)|protein complex (GO:0043234)	dolichyl-diphosphooligosaccharide-protein glycotransferase activity (GO:0004579)			endometrium(2)|kidney(1)|large_intestine(6)|lung(2)|ovary(1)|skin(1)	13		all_lung(284;2.98e-05)|Lung NSC(340;3.25e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000147)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|COAD - Colon adenocarcinoma(152;1.17e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000141)|Kidney(64;0.000177)|GBM - Glioblastoma multiforme(114;0.00046)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		CCACGATGAGCGTATGCTGCA	0.527																																						ENST00000375048.3																			0				endometrium(2)|kidney(1)|large_intestine(6)|lung(2)|ovary(1)|skin(1)	13						c.(511-513)acG>acA		dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit (non-catalytic)							106	107	107					1																	20982022		2203	4300	6503	SO:0001819	synonymous_variant	1650				innate immune response|post-translational protein modification|response to cytokine stimulus|T cell activation	integral to membrane|microsome|oligosaccharyltransferase complex	dolichyl-diphosphooligosaccharide-protein glycotransferase activity|protein binding	g.chr1:20982022C>T	D29643	CCDS212.1	1p36.1	2013-03-06	2013-03-06		ENSG00000244038	ENSG00000244038	2.4.1.119		2728	protein-coding gene	gene with protein product	"oligosaccharyltransferase subunit 48"	602202	"dolichyl-diphosphooligosaccharide-protein glycosyltransferase", "dolichyl-diphosphooligosaccharide--protein glycosyltransferase"			9367678	Standard	NM_005216		Approved	OST, KIAA0115, OST48, WBP1	uc001bdo.1	P39656	OTTHUMG00000002844	ENST00000375048.3:c.513G>A	1.37:g.20982022C>T						DDOST_ENST00000415136.2_Silent_p.T134T|DDOST_ENST00000602624.2_Silent_p.T154T	p.T171T	NM_005216.4	NP_005207.2	P39656	OST48_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|COAD - Colon adenocarcinoma(152;1.17e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000141)|Kidney(64;0.000177)|GBM - Glioblastoma multiforme(114;0.00046)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)	5	618	-		all_lung(284;2.98e-05)|Lung NSC(340;3.25e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000147)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)	171					B2RDQ4|B4DJE3|B4DLI2|O43244|Q5VWA5|Q8NI93|Q9BUI2	Silent	SNP	ENST00000375048.3	37	c.513G>A	CCDS212.1																																																																																				0.527	DDOST-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000007961.2	NM_005216		14	46	0	0	0	1	0	14	46					T	20982022	C	T	20982022	2	4	435	1	0	0	0	0	0	0	0	1	4335	755	27	1		1	DDOST	1	20982022	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	153365	20982022	228268599	138	21063											
DDOST	1650	broad.mit.edu	37	chr1	20987418	20987418	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgagattgtcatagaggaatTccccatactttatgagagac	13	12	9	7	0	1	4	1	2	0	3	2	7	2	5	2	1	1	0	2	1	4	6			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:20987418T>C	ENST00000375048.3	-	2	377	c.272A>G	c.(271-273)gAa>gGa	p.E91G	DDOST_ENST00000477229.1_5'UTR|DDOST_ENST00000602624.2_Missense_Mutation_p.E74G|DDOST_ENST00000415136.2_Intron	NM_005216.4	NP_005207	P39656	OST48_HUMAN	dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit (non-catalytic)	91					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|innate immune response (GO:0045087)|post-translational protein modification (GO:0043687)|protein glycosylation (GO:0006486)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)|response to cytokine (GO:0034097)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|T cell activation (GO:0042110)|translation (GO:0006412)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|oligosaccharyltransferase complex (GO:0008250)|protein complex (GO:0043234)	dolichyl-diphosphooligosaccharide-protein glycotransferase activity (GO:0004579)			endometrium(2)|kidney(1)|large_intestine(6)|lung(2)|ovary(1)|skin(1)	13		all_lung(284;2.98e-05)|Lung NSC(340;3.25e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000147)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|COAD - Colon adenocarcinoma(152;1.17e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000141)|Kidney(64;0.000177)|GBM - Glioblastoma multiforme(114;0.00046)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		ATAGAGGAATTCCCCATACTT	0.507																																						ENST00000375048.3																			0				endometrium(2)|kidney(1)|large_intestine(6)|lung(2)|ovary(1)|skin(1)	13						c.(271-273)gAa>gGa		dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit (non-catalytic)							71	69	70					1																	20987418		2203	4300	6503	SO:0001583	missense	1650				innate immune response|post-translational protein modification|response to cytokine stimulus|T cell activation	integral to membrane|microsome|oligosaccharyltransferase complex	dolichyl-diphosphooligosaccharide-protein glycotransferase activity|protein binding	g.chr1:20987418T>C	D29643	CCDS212.1	1p36.1	2013-03-06	2013-03-06		ENSG00000244038	ENSG00000244038	2.4.1.119		2728	protein-coding gene	gene with protein product	"oligosaccharyltransferase subunit 48"	602202	"dolichyl-diphosphooligosaccharide-protein glycosyltransferase", "dolichyl-diphosphooligosaccharide--protein glycosyltransferase"			9367678	Standard	NM_005216		Approved	OST, KIAA0115, OST48, WBP1	uc001bdo.1	P39656	OTTHUMG00000002844	ENST00000375048.3:c.272A>G	1.37:g.20987418T>C	ENSP00000364188:p.Glu91Gly					DDOST_ENST00000415136.2_Intron|DDOST_ENST00000477229.1_5'UTR|DDOST_ENST00000602624.2_Missense_Mutation_p.E74G	p.E91G	NM_005216.4	NP_005207.2	P39656	OST48_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|COAD - Colon adenocarcinoma(152;1.17e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000141)|Kidney(64;0.000177)|GBM - Glioblastoma multiforme(114;0.00046)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)	2	377	-		all_lung(284;2.98e-05)|Lung NSC(340;3.25e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000147)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)	91					B2RDQ4|B4DJE3|B4DLI2|O43244|Q5VWA5|Q8NI93|Q9BUI2	Missense_Mutation	SNP	ENST00000375048.3	37	c.272A>G	CCDS212.1	.	.	.	.	.	.	.	.	.	.	T	35	5.463627	0.96257	.	.	ENSG00000244038	ENST00000375048	T	0.80393	-1.37	5.1	5.1	0.69264	.	0.053951	0.64402	D	0.000001	D	0.90597	0.7052	M	0.91249	3.19	0.80722	D	1	D;P	0.57571	0.98;0.56	P;P	0.61592	0.891;0.521	D	0.92636	0.6120	10	0.66056	D	0.02	-34.5713	15.2238	0.73333	0.0:0.0:0.0:1.0	.	91;91	B4DLI2;P39656	.;OST48_HUMAN	G	91	ENSP00000364188:E91G	ENSP00000364188:E91G	E	-	2	0	DDOST	20860005	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	7.953000	0.87836	2.061000	0.61500	0.533000	0.62120	GAA		0.507	DDOST-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000007961.2	NM_005216		4	71	0	0	0	1	0	4	71					C	20987418	T	C	20987418	3	2	435	1	0	0	0	0	1	0	0	0	4335	1783	62	4	1138	4	DDOST	1	20987418	Missense_Mutation	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	5396	20987418	228263203	139	21064											
SH2D5	400745	broad.mit.edu	37	chr1	21052532	21052532	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaggtggagtagagtatgcGcctcagggcatgagccatca	10	7	14	10	1	2	2	2	1	0	1	2	3	2	3	3	3	2	3	3	3	2	2	rs201137078		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:21052532G>A	ENST00000444387.2	-	5	668	c.271C>T	c.(271-273)Cgc>Tgc	p.R91C	SH2D5_ENST00000375031.1_Missense_Mutation_p.R7C|SH2D5_ENST00000460804.1_Intron	NM_001103161.1	NP_001096631.1	Q6ZV89	SH2D5_HUMAN	SH2 domain containing 5	91										lung(4)|prostate(1)|upper_aerodigestive_tract(1)	6		Colorectal(325;3.46e-05)|all_lung(284;5.32e-05)|Lung NSC(340;5.51e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|COAD - Colon adenocarcinoma(152;1.17e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000142)|GBM - Glioblastoma multiforme(114;0.000465)|Kidney(64;0.000476)|STAD - Stomach adenocarcinoma(196;0.00303)|KIRC - Kidney renal clear cell carcinoma(64;0.00634)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		TAGAGTATGCGCCTCAGGGCA	0.647																																						ENST00000375031.1																			0				lung(4)|prostate(1)|upper_aerodigestive_tract(1)	6						c.(19-21)Cgc>Tgc		SH2 domain containing 5		G	CYS/ARG,CYS/ARG	0,4332		0,0,2166	31	42	39		19,271	4.5	1	1		39	1,8545		0,1,4272	yes	missense,missense	SH2D5	NM_001103160.1,NM_001103161.1	180,180	0,1,6438	AA,AG,GG		0.0117,0.0,0.0078	probably-damaging,probably-damaging	7/340,91/424	21052532	1,12877	2166	4273	6439	SO:0001583	missense	400745							g.chr1:21052532G>A	AK124869, AK123236	CCDS41280.1, CCDS44080.1	1p36.12	2008-02-05			ENSG00000189410	ENSG00000189410			28819	protein-coding gene	gene with protein product							Standard	NM_001103161		Approved		uc009vpy.1	Q6ZV89	OTTHUMG00000002620	ENST00000444387.2:c.271C>T	1.37:g.21052532G>A	ENSP00000406026:p.Arg91Cys					SH2D5_ENST00000444387.2_Missense_Mutation_p.R91C|SH2D5_ENST00000460804.1_Intron	p.R7C	NM_001103160.1	NP_001096630.1	Q6ZV89	SH2D5_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|COAD - Colon adenocarcinoma(152;1.17e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000142)|GBM - Glioblastoma multiforme(114;0.000465)|Kidney(64;0.000476)|STAD - Stomach adenocarcinoma(196;0.00303)|KIRC - Kidney renal clear cell carcinoma(64;0.00634)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)	4	643	-		Colorectal(325;3.46e-05)|all_lung(284;5.32e-05)|Lung NSC(340;5.51e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)	7					B7Z3W3|Q5SSJ2	Missense_Mutation	SNP	ENST00000444387.2	37	c.19C>T	CCDS44080.1	.	.	.	.	.	.	.	.	.	.	G	27.8	4.867075	0.91511	0.0	1.17E-4	ENSG00000189410	ENST00000375031;ENST00000444387;ENST00000447746;ENST00000518294;ENST00000517430	T;T;T;T;T	0.48201	0.82;0.82;0.82;0.82;0.82	4.54	4.54	0.55810	.	0.142022	0.48286	D	0.000183	T	0.61009	0.2313	L	0.57536	1.79	0.58432	D	0.999999	D	0.76494	0.999	P	0.61003	0.882	T	0.64833	-0.6314	10	0.87932	D	0	.	14.5256	0.67887	0.0:0.0:1.0:0.0	.	91	Q6ZV89	SH2D5_HUMAN	C	7;91;84;91;91	ENSP00000364171:R7C;ENSP00000406026:R91C;ENSP00000408509:R84C;ENSP00000428153:R91C;ENSP00000428656:R91C	ENSP00000364171:R7C	R	-	1	0	SH2D5	20925119	0.995000	0.38212	1.000000	0.80357	0.710000	0.40934	2.288000	0.43514	2.537000	0.85549	0.555000	0.69702	CGC		0.647	SH2D5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007455.2	XM_375698		5	0	0	0	0	1	0	5	0					A	21052532	G	A	21052532	3	1	435	1	0	0	0	0	1	0	0	0	14237	1087	38	1	1024	1	SH2D5	1	21052532	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	65114	21052532	228198089	140	21065											
EIF4G3	8672	broad.mit.edu	37	chr1	21143947	21143947	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aataatgagtttctcgagtcGcttatacagctcttcggcag	10	13	9	9	3	2	1	0	1	2	0	5	2	2	1	0	1	2	4	0	1	4	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:21143947G>A	ENST00000264211.8	-	28	4479	c.4285C>T	c.(4285-4287)Cga>Tga	p.R1429*	EIF4G3_ENST00000374935.3_Nonsense_Mutation_p.R1149*|EIF4G3_ENST00000536266.1_Nonsense_Mutation_p.R1033*|EIF4G3_ENST00000602326.1_Nonsense_Mutation_p.R1435*|EIF4G3_ENST00000374937.3_Nonsense_Mutation_p.R1435*|EIF4G3_ENST00000400422.1_Nonsense_Mutation_p.R1429*|EIF4G3_ENST00000537738.1_Nonsense_Mutation_p.R919*	NM_003760.4	NP_003751.2	O43432	IF4G3_HUMAN	eukaryotic translation initiation factor 4 gamma, 3	1429	W2. {ECO:0000255|PROSITE- ProRule:PRU00695}.				cytokine-mediated signaling pathway (GO:0019221)|positive regulation of meiosis I (GO:0060903)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of translation (GO:0045727)|regulation of translational initiation (GO:0006446)|spermatogenesis (GO:0007283)|viral process (GO:0016032)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)	poly(A) RNA binding (GO:0044822)|RNA cap binding (GO:0000339)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(18)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(1)|urinary_tract(3)	70		all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191)		TTCTCGAGTCGCTTATACAGC	0.423																																						ENST00000602326.1																			0				endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(18)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(1)|urinary_tract(3)	70						c.(4303-4305)Cga>Tga		eukaryotic translation initiation factor 4 gamma, 3							114	112	112					1																	21143947		2203	4300	6503	SO:0001587	stop_gained	8672				interspecies interaction between organisms|regulation of translational initiation|RNA metabolic process	eukaryotic translation initiation factor 4F complex	protein binding|RNA cap binding|translation initiation factor activity	g.chr1:21143947G>A	AF012072	CCDS214.1, CCDS55580.1, CCDS59192.1, CCDS72723.1	1p36.12	2008-02-05			ENSG00000075151	ENSG00000075151			3298	protein-coding gene	gene with protein product		603929				9418880	Standard	NM_001198801		Approved	eIF4GII	uc001bef.3	O43432	OTTHUMG00000002624	ENST00000264211.8:c.4285C>T	1.37:g.21143947G>A	ENSP00000264211:p.Arg1429*					EIF4G3_ENST00000537738.1_Nonsense_Mutation_p.R919*|EIF4G3_ENST00000536266.1_Nonsense_Mutation_p.R1033*|EIF4G3_ENST00000374935.3_Nonsense_Mutation_p.R1149*|EIF4G3_ENST00000400422.1_Nonsense_Mutation_p.R1429*|EIF4G3_ENST00000374937.3_Nonsense_Mutation_p.R1435*|EIF4G3_ENST00000264211.8_Nonsense_Mutation_p.R1429*	p.R1435*	NM_001198802.1	NP_001185731.1	O43432	IF4G3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191)	32	4886	-		all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256)	1429			EIF4A-binding (By similarity).|W2.		B9EGQ7|Q15597|Q504Z1|Q5SWC3|Q8NEN1	Nonsense_Mutation	SNP	ENST00000264211.8	37	c.4303C>T	CCDS214.1	.	.	.	.	.	.	.	.	.	.	G	47	13.756568	0.99761	.	.	ENSG00000075151	ENST00000264211;ENST00000400415;ENST00000400422;ENST00000374935;ENST00000537738;ENST00000374937;ENST00000536266	.	.	.	5.4	5.4	0.78164	.	0.218495	0.40385	N	0.001101	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.13108	T	0.6	-3.5553	14.1198	0.65180	0.0:0.0:0.8498:0.1502	.	.	.	.	X	1429;1625;1429;1149;919;1435;1033	.	ENSP00000264211:R1429X	R	-	1	2	EIF4G3	21016534	1.000000	0.71417	0.985000	0.45067	0.811000	0.45836	5.055000	0.64282	2.546000	0.85860	0.558000	0.71614	CGA		0.423	EIF4G3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000007467.3	NM_003760		38	55	0	0	0	1	0	38	55					A	21143947	G	A	21143947	4	1	435	1	0	0	0	0	0	1	0	0	5038	1095	38	1	488	1	EIF4G3	1	21143947	Nonsense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	91415	21143947	228106674	141	21066											
EIF4G3	8672	broad.mit.edu	37	chr1	21181537	21181537	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gcctagctgtgctttaggtaCcagctgaattttttcatcaa	9	15	8	9	0	2	1	2	1	0	0	2	1	2	1	2	1	4	4	2	1	5	7			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:21181537C>T	ENST00000264211.8	-	20	3393	c.3199G>A	c.(3199-3201)Gta>Ata	p.V1067I	EIF4G3_ENST00000374935.3_Missense_Mutation_p.V787I|EIF4G3_ENST00000536266.1_Missense_Mutation_p.V671I|EIF4G3_ENST00000602326.1_Missense_Mutation_p.V1073I|EIF4G3_ENST00000374937.3_Missense_Mutation_p.V1073I|EIF4G3_ENST00000400422.1_Missense_Mutation_p.V1067I|EIF4G3_ENST00000537738.1_Missense_Mutation_p.V557I	NM_003760.4	NP_003751.2	O43432	IF4G3_HUMAN	eukaryotic translation initiation factor 4 gamma, 3	1067					cytokine-mediated signaling pathway (GO:0019221)|positive regulation of meiosis I (GO:0060903)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of translation (GO:0045727)|regulation of translational initiation (GO:0006446)|spermatogenesis (GO:0007283)|viral process (GO:0016032)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)	poly(A) RNA binding (GO:0044822)|RNA cap binding (GO:0000339)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(18)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(1)|urinary_tract(3)	70		all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191)		GCTTTAGGTACCAGCTGAATT	0.408																																						ENST00000602326.1																			0				endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(18)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(1)|urinary_tract(3)	70						c.(3217-3219)Gta>Ata		eukaryotic translation initiation factor 4 gamma, 3							177	156	163					1																	21181537		2203	4300	6503	SO:0001583	missense	8672				interspecies interaction between organisms|regulation of translational initiation|RNA metabolic process	eukaryotic translation initiation factor 4F complex	protein binding|RNA cap binding|translation initiation factor activity	g.chr1:21181537C>T	AF012072	CCDS214.1, CCDS55580.1, CCDS59192.1, CCDS72723.1	1p36.12	2008-02-05			ENSG00000075151	ENSG00000075151			3298	protein-coding gene	gene with protein product		603929				9418880	Standard	NM_001198801		Approved	eIF4GII	uc001bef.3	O43432	OTTHUMG00000002624	ENST00000264211.8:c.3199G>A	1.37:g.21181537C>T	ENSP00000264211:p.Val1067Ile					EIF4G3_ENST00000537738.1_Missense_Mutation_p.V557I|EIF4G3_ENST00000536266.1_Missense_Mutation_p.V671I|EIF4G3_ENST00000374935.3_Missense_Mutation_p.V787I|EIF4G3_ENST00000400422.1_Missense_Mutation_p.V1067I|EIF4G3_ENST00000374937.3_Missense_Mutation_p.V1073I|EIF4G3_ENST00000264211.8_Missense_Mutation_p.V1067I	p.V1073I	NM_001198802.1	NP_001185731.1	O43432	IF4G3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191)	24	3800	-		all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256)	1067					B9EGQ7|Q15597|Q504Z1|Q5SWC3|Q8NEN1	Missense_Mutation	SNP	ENST00000264211.8	37	c.3217G>A	CCDS214.1	.	.	.	.	.	.	.	.	.	.	C	23.7	4.450491	0.84101	.	.	ENSG00000075151	ENST00000264211;ENST00000400415;ENST00000400422;ENST00000374935;ENST00000537738;ENST00000374937;ENST00000536266	T;T;T;T;T;T	0.06849	3.8;3.8;3.62;3.25;3.8;3.5	5.84	5.84	0.93424	.	0.057640	0.64402	D	0.000001	T	0.11196	0.0273	N	0.14661	0.345	0.80722	D	1	P;B;B;D;P	0.58620	0.925;0.138;0.321;0.983;0.944	P;B;B;P;P	0.49752	0.554;0.065;0.205;0.621;0.449	T	0.04373	-1.0956	10	0.72032	D	0.01	-15.0337	20.563	0.99327	0.0:1.0:0.0:0.0	.	1262;787;671;1073;1067	Q59GJ0;Q504Z1;F5H564;B9EGQ7;O43432	.;.;.;.;IF4G3_HUMAN	I	1067;1263;1067;787;557;1073;671	ENSP00000264211:V1067I;ENSP00000383274:V1067I;ENSP00000364071:V787I;ENSP00000442010:V557I;ENSP00000364073:V1073I;ENSP00000444693:V671I	ENSP00000264211:V1067I	V	-	1	0	EIF4G3	21054124	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.036000	0.76524	2.937000	0.99478	0.650000	0.86243	GTA		0.408	EIF4G3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000007467.3	NM_003760		12	71	0	0	0	1	0	12	71					T	21181537	C	T	21181537	3	4	435	1	0	0	0	0	1	0	0	0	5038	507	18	3	1606	3	EIF4G3	1	21181537	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	37590	21181537	228069084	142	21067											
ECE1	1889	broad.mit.edu	37	chr1	21571562	21571562	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaggaaggagcttgttttccGcaccaggttccagatcatgt	10	11	11	9	1	1	1	1	0	0	1	3	3	3	3	3	3	1	4	3	3	2	4	rs372113894		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:21571562G>A	ENST00000374893.6	-	10	1272	c.1198C>T	c.(1198-1200)Cgg>Tgg	p.R400W	ECE1_ENST00000436918.2_Missense_Mutation_p.R400W|ECE1_ENST00000264205.6_Missense_Mutation_p.R397W|ECE1_ENST00000528294.1_5'UTR|ECE1_ENST00000357071.4_Missense_Mutation_p.R388W|ECE1_ENST00000415912.2_Missense_Mutation_p.R384W	NM_001397.2	NP_001388.1	P42892	ECE1_HUMAN	endothelin converting enzyme 1	400					bradykinin catabolic process (GO:0010815)|calcitonin catabolic process (GO:0010816)|ear development (GO:0043583)|embryonic digit morphogenesis (GO:0042733)|endothelin maturation (GO:0034959)|heart development (GO:0007507)|hormone catabolic process (GO:0042447)|peptide hormone processing (GO:0016486)|pharyngeal system development (GO:0060037)|positive regulation of receptor recycling (GO:0001921)|protein processing (GO:0016485)|regulation of systemic arterial blood pressure by endothelin (GO:0003100)|regulation of vasoconstriction (GO:0019229)|substance P catabolic process (GO:0010814)	early endosome (GO:0005769)|endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intrinsic component of endosome membrane (GO:0031302)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|vesicle (GO:0031982)|Weibel-Palade body (GO:0033093)	endopeptidase activity (GO:0004175)|metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)|peptide hormone binding (GO:0017046)|protein homodimerization activity (GO:0042803)	p.R400W(1)		endometrium(5)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)	25		Lung NSC(340;1.14e-05)|all_lung(284;1.23e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00147)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0183)|OV - Ovarian serous cystadenocarcinoma(117;4.83e-27)|COAD - Colon adenocarcinoma(152;1.36e-06)|GBM - Glioblastoma multiforme(114;1.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000162)|STAD - Stomach adenocarcinoma(196;0.00326)|KIRC - Kidney renal clear cell carcinoma(1967;0.00755)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.206)		CTTGTTTTCCGCACCAGGTTC	0.572											OREG0013200	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000415912.2																			1	Substitution - Missense(1)	p.R400W(1)	large_intestine(1)	endometrium(5)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)	25						c.(1150-1152)Cgg>Tgg		endothelin converting enzyme 1		G	TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG	0,4406		0,0,2203	126	103	111		1162,1150,1189,1198	4.6	1	1		111	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense	ECE1	NM_001113347.1,NM_001113348.1,NM_001113349.1,NM_001397.2	101,101,101,101	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging	388/759,384/755,397/768,400/771	21571562	1,13005	2203	4300	6503	SO:0001583	missense	1889				bradykinin catabolic process|calcitonin catabolic process|ear development|embryonic digit morphogenesis|endothelin maturation|heart development|positive regulation of receptor recycling|substance P catabolic process	early endosome|external side of plasma membrane|integral to membrane|intrinsic to endosome membrane|membrane fraction|perinuclear region of cytoplasm|plasma membrane|Weibel-Palade body	metal ion binding|metalloendopeptidase activity|protein homodimerization activity	g.chr1:21571562G>A	D49471	CCDS215.1, CCDS44081.1, CCDS44082.1, CCDS44083.1	1p36.1	2008-02-05			ENSG00000117298	ENSG00000117298			3146	protein-coding gene	gene with protein product		600423		ECE		7805846, 7864876, 17592116	Standard	NM_001397		Approved		uc001bei.2	P42892	OTTHUMG00000002625	ENST00000374893.6:c.1198C>T	1.37:g.21571562G>A	ENSP00000364028:p.Arg400Trp		OREG0013200	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	749	ECE1_ENST00000374893.6_Missense_Mutation_p.R400W|ECE1_ENST00000264205.6_Missense_Mutation_p.R397W|ECE1_ENST00000357071.4_Missense_Mutation_p.R388W|ECE1_ENST00000528294.1_5'UTR|ECE1_ENST00000436918.2_Missense_Mutation_p.R400W	p.R384W	NM_001113348.1	NP_001106819.1	P42892	ECE1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0183)|OV - Ovarian serous cystadenocarcinoma(117;4.83e-27)|COAD - Colon adenocarcinoma(152;1.36e-06)|GBM - Glioblastoma multiforme(114;1.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000162)|STAD - Stomach adenocarcinoma(196;0.00326)|KIRC - Kidney renal clear cell carcinoma(1967;0.00755)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.206)	10	1275	-		Lung NSC(340;1.14e-05)|all_lung(284;1.23e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00147)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)	400					A8K3P1|B4E291|Q14217|Q17RN5|Q2Z2K8|Q58GE7|Q5THM5|Q5THM7|Q5THM8|Q9UJQ6|Q9UPF4|Q9UPM4|Q9Y501	Missense_Mutation	SNP	ENST00000374893.6	37	c.1150C>T	CCDS215.1	.	.	.	.	.	.	.	.	.	.	G	19.69	3.873973	0.72180	0.0	1.16E-4	ENSG00000117298	ENST00000415912;ENST00000357071;ENST00000374893;ENST00000436918;ENST00000264205	T;T;T;T;T	0.75589	-0.95;-0.95;-0.95;-0.95;-0.95	5.55	4.57	0.56435	Peptidase M13 (1);	0.048391	0.85682	D	0.000000	D	0.85106	0.5621	M	0.78285	2.405	0.80722	D	1	B;D;P;D;D	0.89917	0.136;1.0;0.528;1.0;1.0	B;D;B;D;D	0.69307	0.038;0.963;0.078;0.938;0.938	D	0.87081	0.2166	10	0.87932	D	0	-36.4203	14.0517	0.64742	0.0:0.0:0.7585:0.2415	.	400;384;400;388;397	B4DKB2;Q2Z2K8;P42892;P42892-2;P42892-4	.;.;ECE1_HUMAN;.;.	W	384;388;400;400;397	ENSP00000405088:R384W;ENSP00000349581:R388W;ENSP00000364028:R400W;ENSP00000388439:R400W;ENSP00000264205:R397W	ENSP00000264205:R397W	R	-	1	2	ECE1	21444149	0.016000	0.18221	1.000000	0.80357	0.940000	0.58332	0.348000	0.20031	1.296000	0.44742	0.561000	0.74099	CGG		0.572	ECE1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000007470.2	NM_001397		12	23	0	0	0	1	0	12	23					A	21571562	G	A	21571562	3	1	435	1	0	0	0	0	1	0	0	0	4889	1086	38	1	1154	1	ECE1	1	21571562	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	390025	21571562	227679059	143	21068											
NBPF3	84224	broad.mit.edu	37	chr1	21795389	21795389	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gccaaccggcaaaataattaCggtaagttctataggctcac	14	9	8	10	2	2	0	1	0	1	0	2	0	2	0	2	3	2	4	2	3	8	6	rs545088239		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:21795389C>T	ENST00000318249.5	+	3	692	c.342C>T	c.(340-342)taC>taT	p.Y114Y	NBPF3_ENST00000454000.2_Intron|NBPF3_ENST00000318220.6_Splice_Site_p.Y58Y|NBPF3_ENST00000342104.5_Splice_Site_p.Y114Y	NM_032264.3	NP_115640.1	Q9H094	NBPF3_HUMAN	neuroblastoma breakpoint family, member 3	114			Y -> C (in dbSNP:rs1827293). {ECO:0000269|PubMed:15489334}.			cytoplasm (GO:0005737)				breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	20		all_lung(284;2.16e-05)|Lung NSC(340;2.19e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|OV - Ovarian serous cystadenocarcinoma(117;7.53e-27)|COAD - Colon adenocarcinoma(152;1.18e-05)|GBM - Glioblastoma multiforme(114;3.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000143)|STAD - Stomach adenocarcinoma(196;0.00306)|KIRC - Kidney renal clear cell carcinoma(1967;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		AAAATAATTACGGTAAGTTCT	0.443											OREG0013205	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000318220.6																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	20						c.e6+1		neuroblastoma breakpoint family, member 3							48	53	51					1																	21795389		2203	4300	6503	SO:0001630	splice_region_variant	84224					cytoplasm		g.chr1:21795389C>T	BC024011	CCDS216.1, CCDS57976.1, CCDS57977.1	1p36.12	2013-01-17			ENSG00000142794	ENSG00000142794		"neuroblastoma breakpoint family"	25076	protein-coding gene	gene with protein product		612992				11230166, 16079250	Standard	NM_032264		Approved	AE2	uc001ber.4	Q9H094	OTTHUMG00000002944	ENST00000318249.5:c.343+1C>T	1.37:g.21795389C>T			OREG0013205	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	751	NBPF3_ENST00000454000.2_Intron|NBPF3_ENST00000318249.5_Splice_Site_p.Y114_splice|NBPF3_ENST00000342104.5_Splice_Site_p.Y114_splice	p.Y58_splice			Q9H094	NBPF3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|OV - Ovarian serous cystadenocarcinoma(117;7.53e-27)|COAD - Colon adenocarcinoma(152;1.18e-05)|GBM - Glioblastoma multiforme(114;3.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000143)|STAD - Stomach adenocarcinoma(196;0.00306)|KIRC - Kidney renal clear cell carcinoma(1967;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)	6	1222	+		all_lung(284;2.16e-05)|Lung NSC(340;2.19e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)	114					A8K965|B4DSP2|I3L0I8|Q3BBW1|Q5VTG2|Q5VTG3|Q5VTG4|Q8IX78|Q8ND86|Q8TC96	Splice_Site	SNP	ENST00000318249.5	37	c.175_splice	CCDS216.1																																																																																				0.443	NBPF3-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_032264	Silent	19	35	0	0	0	1	0	19	35					T	21795389	C	T	21795389	5	4	435	1	0	0	0	0	0	0	1	0	10197	550	19	1	348	1	NBPF3	1	21795389	Splice_Site	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	223827	21795389	227455232	144	21069											
RAP1GAP	5909	broad.mit.edu	37	chr1	21924989	21924989	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggtgttcctgaggatgacaCgctctcctggggagggggtg	5	9	19	8	1	1	2	0	2	1	0	3	4	2	4	2	6	0	2	2	6	0	1	rs180790213		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:21924989C>T	ENST00000374765.4	-	22	1983	c.1783G>A	c.(1783-1785)Gtg>Atg	p.V595M	RAP1GAP_ENST00000374763.2_Missense_Mutation_p.V680M|RAP1GAP_ENST00000290101.4_Missense_Mutation_p.V659M|RAP1GAP_ENST00000542643.2_Missense_Mutation_p.V621M|RAP1GAP_ENST00000374761.2_Missense_Mutation_p.V626M	NM_002885.2	NP_002876.2	P47736	RPGP1_HUMAN	RAP1 GTPase activating protein	595					GTP catabolic process (GO:0006184)|positive regulation of Rap GTPase activity (GO:0032854)|regulation of Ras GTPase activity (GO:0032318)|signal transduction (GO:0007165)	cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|GTPase activity (GO:0003924)|protein homodimerization activity (GO:0042803)|Rap GTPase activator activity (GO:0046582)|Ras GTPase binding (GO:0017016)			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(2)|skin(1)	17		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.000861)|all_lung(284;0.000901)|Breast(348;0.012)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0192)|OV - Ovarian serous cystadenocarcinoma(117;2.3e-26)|COAD - Colon adenocarcinoma(152;1.59e-05)|GBM - Glioblastoma multiforme(114;2.7e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000354)|STAD - Stomach adenocarcinoma(196;0.00645)|KIRC - Kidney renal clear cell carcinoma(1967;0.00862)|READ - Rectum adenocarcinoma(331;0.0625)|Lung(427;0.146)		GAGGATGACACGCTCTCCTGG	0.622													C|||	1	0.000199681	0	0.0014	5008	,	,		18322	0		0	False		,,,				2504	0					ENST00000542643.2																			0				breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(2)|skin(1)	17						c.(1861-1863)Gtg>Atg		RAP1 GTPase activating protein		C	MET/VAL,MET/VAL,MET/VAL	0,4406		0,0,2203	68	60	63		1783,1975,1861	3.7	0.4	1		63	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	RAP1GAP	NM_002885.2,NM_001145658.1,NM_001145657.1	21,21,21	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign,benign,benign	595/664,659/728,621/682	21924989	1,13005	2203	4300	6503	SO:0001583	missense	5909				regulation of Ras GTPase activity|signal transduction	cytosol|Golgi membrane|membrane fraction	GTPase activator activity|GTPase activity|protein homodimerization activity|Ras GTPase binding	g.chr1:21924989C>T	BC054490	CCDS218.1, CCDS53276.1, CCDS53277.1	1p36.1-p35	2009-09-14	2006-04-12	2006-04-12	ENSG00000076864	ENSG00000076864			9858	protein-coding gene	gene with protein product		600278	"RAP1, GTPase activating protein 1"	RAP1GA1		1904317	Standard	NM_001145657		Approved	KIAA0474, RAP1GAP1, RAP1GAPII	uc001bew.3	P47736	OTTHUMG00000007513	ENST00000374765.4:c.1783G>A	1.37:g.21924989C>T	ENSP00000363897:p.Val595Met					RAP1GAP_ENST00000374761.2_Missense_Mutation_p.V626M|RAP1GAP_ENST00000374763.2_Missense_Mutation_p.V680M|RAP1GAP_ENST00000290101.4_Missense_Mutation_p.V659M|RAP1GAP_ENST00000374765.4_Missense_Mutation_p.V595M	p.V621M	NM_001145657.1	NP_001139129.1	P47736	RPGP1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0192)|OV - Ovarian serous cystadenocarcinoma(117;2.3e-26)|COAD - Colon adenocarcinoma(152;1.59e-05)|GBM - Glioblastoma multiforme(114;2.7e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000354)|STAD - Stomach adenocarcinoma(196;0.00645)|KIRC - Kidney renal clear cell carcinoma(1967;0.00862)|READ - Rectum adenocarcinoma(331;0.0625)|Lung(427;0.146)	24	2163	-		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.000861)|all_lung(284;0.000901)|Breast(348;0.012)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)	595					J3QSS6|O75062|Q5T3S9|Q5T3T4|Q7Z5S8|Q9UQ51	Missense_Mutation	SNP	ENST00000374765.4	37	c.1861G>A	CCDS218.1	1|1	4.578754578754579E-4|4.578754578754579E-4	0|0	0.0|0.0	1|1	0.0027624309392265192|0.0027624309392265192	0|0	0.0|0.0	0|0	0.0|0.0	C|C	3.314|3.314	-0.140262|-0.140262	0.06669|0.06669	0.0|0.0	1.16E-4|1.16E-4	ENSG00000076864|ENSG00000076864	ENST00000374758|ENST00000290101;ENST00000374761;ENST00000542643;ENST00000374765;ENST00000374763	.|D;D;D;D	.|0.89681	.|-2.49;-2.49;-2.55;-2.49	4.72|4.72	3.74|3.74	0.42951|0.42951	.|.	.|1.064520	.|0.07399	.|N	.|0.890511	D|D	0.84220|0.84220	0.5424|0.5424	L|L	0.40543|0.40543	1.245|1.245	0.23869|0.23869	N|N	0.996614|0.996614	.|B;B;B;B	.|0.18610	.|0.01;0.007;0.029;0.007	.|B;B;B;B	.|0.15870	.|0.009;0.003;0.014;0.003	T|T	0.68599|0.68599	-0.5366|-0.5366	5|9	.|.	.|.	.|.	-0.179|-0.179	9.6298|9.6298	0.39772|0.39772	0.0:0.884:0.0:0.116|0.0:0.884:0.0:0.116	.|.	.|621;595;625;595	.|P47736-2;P47736;P47736-3;Q7Z5S8	.|.;RPGP1_HUMAN;.;.	H|M	678|659;626;621;595;625	.|ENSP00000290101:V659M;ENSP00000363893:V626M;ENSP00000441661:V621M;ENSP00000363897:V595M	.|.	R|V	-|-	2|1	0|0	RAP1GAP|RAP1GAP	21797576|21797576	0.881000|0.881000	0.30235|0.30235	0.355000|0.355000	0.25773|0.25773	0.069000|0.069000	0.16628|0.16628	1.828000|1.828000	0.39111|0.39111	0.868000|0.868000	0.35678|0.35678	0.555000|0.555000	0.69702|0.69702	CGT|GTG		0.622	RAP1GAP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000019759.2	NM_002885		6	30	0	0	0	1	0	6	30					T	21924989	C	T	21924989	3	4	435	1	0	0	0	0	1	0	0	0	13037	536	19	1	220	1	RAP1GAP	1	21924989	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	129600	21924989	227325632	145	21070											
RAP1GAP	5909	broad.mit.edu	37	chr1	21935361	21935361	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acctccagtttggcaaacttCtctgccttgtagcaggcata	9	12	8	12	0	1	0	0	0	1	0	3	0	2	0	3	2	3	5	3	2	3	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:21935361C>T	ENST00000374765.4	-	16	1340	c.1140G>A	c.(1138-1140)gaG>gaA	p.E380E	RAP1GAP_ENST00000374763.2_Silent_p.E380E|RAP1GAP_ENST00000290101.4_Silent_p.E444E|RAP1GAP_ENST00000542643.2_Silent_p.E380E|RAP1GAP_ENST00000374761.2_Silent_p.E411E	NM_002885.2	NP_002876.2	P47736	RPGP1_HUMAN	RAP1 GTPase activating protein	380	Rap-GAP. {ECO:0000255|PROSITE- ProRule:PRU00165}.				GTP catabolic process (GO:0006184)|positive regulation of Rap GTPase activity (GO:0032854)|regulation of Ras GTPase activity (GO:0032318)|signal transduction (GO:0007165)	cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|GTPase activity (GO:0003924)|protein homodimerization activity (GO:0042803)|Rap GTPase activator activity (GO:0046582)|Ras GTPase binding (GO:0017016)			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(2)|skin(1)	17		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.000861)|all_lung(284;0.000901)|Breast(348;0.012)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0192)|OV - Ovarian serous cystadenocarcinoma(117;2.3e-26)|COAD - Colon adenocarcinoma(152;1.59e-05)|GBM - Glioblastoma multiforme(114;2.7e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000354)|STAD - Stomach adenocarcinoma(196;0.00645)|KIRC - Kidney renal clear cell carcinoma(1967;0.00862)|READ - Rectum adenocarcinoma(331;0.0625)|Lung(427;0.146)		TGGCAAACTTCTCTGCCTTGT	0.512																																						ENST00000542643.2																			0				breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(2)|skin(1)	17						c.(1138-1140)gaG>gaA		RAP1 GTPase activating protein							200	165	177					1																	21935361		2203	4300	6503	SO:0001819	synonymous_variant	5909				regulation of Ras GTPase activity|signal transduction	cytosol|Golgi membrane|membrane fraction	GTPase activator activity|GTPase activity|protein homodimerization activity|Ras GTPase binding	g.chr1:21935361C>T	BC054490	CCDS218.1, CCDS53276.1, CCDS53277.1	1p36.1-p35	2009-09-14	2006-04-12	2006-04-12	ENSG00000076864	ENSG00000076864			9858	protein-coding gene	gene with protein product		600278	"RAP1, GTPase activating protein 1"	RAP1GA1		1904317	Standard	NM_001145657		Approved	KIAA0474, RAP1GAP1, RAP1GAPII	uc001bew.3	P47736	OTTHUMG00000007513	ENST00000374765.4:c.1140G>A	1.37:g.21935361C>T						RAP1GAP_ENST00000374761.2_Silent_p.E411E|RAP1GAP_ENST00000374763.2_Silent_p.E380E|RAP1GAP_ENST00000290101.4_Silent_p.E444E|RAP1GAP_ENST00000374765.4_Silent_p.E380E	p.E380E	NM_001145657.1	NP_001139129.1	P47736	RPGP1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0192)|OV - Ovarian serous cystadenocarcinoma(117;2.3e-26)|COAD - Colon adenocarcinoma(152;1.59e-05)|GBM - Glioblastoma multiforme(114;2.7e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000354)|STAD - Stomach adenocarcinoma(196;0.00645)|KIRC - Kidney renal clear cell carcinoma(1967;0.00862)|READ - Rectum adenocarcinoma(331;0.0625)|Lung(427;0.146)	17	1442	-		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.000861)|all_lung(284;0.000901)|Breast(348;0.012)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)	380			Rap-GAP.		J3QSS6|O75062|Q5T3S9|Q5T3T4|Q7Z5S8|Q9UQ51	Silent	SNP	ENST00000374765.4	37	c.1140G>A	CCDS218.1																																																																																				0.512	RAP1GAP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000019759.2	NM_002885		70	126	0	0	0	1	0	70	126					T	21935361	C	T	21935361	2	4	435	1	0	0	0	0	0	0	0	1	13037	912	32	3		3	RAP1GAP	1	21935361	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	10372	21935361	227315260	146	21071											
LDLRAD2	401944	broad.mit.edu	37	chr1	22140900	22140900	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttccgctgcagccgacctggCggaactgtgcgggcagacgt	6	7	15	13	5	0	1	0	0	0	1	1	3	1	2	3	3	4	3	3	3	1	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:22140900C>T	ENST00000344642.2	+	2	282	c.95C>T	c.(94-96)gCg>gTg	p.A32V	LDLRAD2_ENST00000543870.1_Missense_Mutation_p.A32V	NM_001013693.2	NP_001013715.2	Q5SZI1	LRAD2_HUMAN	low density lipoprotein receptor class A domain containing 2	32						integral component of membrane (GO:0016021)				endometrium(2)|large_intestine(1)|lung(3)	6		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.00166)|all_lung(284;0.00172)|Breast(348;0.012)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;5.2e-26)|COAD - Colon adenocarcinoma(152;1.13e-05)|GBM - Glioblastoma multiforme(114;1.36e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000544)|KIRC - Kidney renal clear cell carcinoma(1967;0.00598)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.197)		GCCGACCTGGCGGAACTGTGC	0.692																																						ENST00000344642.2																			0				endometrium(2)|large_intestine(1)|lung(3)	6						c.(94-96)gCg>gTg		low density lipoprotein receptor class A domain containing 2							9	11	10					1																	22140900		2072	4113	6185	SO:0001583	missense	401944					integral to membrane	receptor activity	g.chr1:22140900C>T	AL590103	CCDS30624.1	1p36.12	2008-02-05	2005-10-07		ENSG00000187942	ENSG00000187942			32071	protein-coding gene	gene with protein product			"low density lipoprotein receptor A domain containing 2"				Standard	NM_001013693		Approved		uc001bfg.1	Q5SZI1	OTTHUMG00000002675	ENST00000344642.2:c.95C>T	1.37:g.22140900C>T	ENSP00000340988:p.Ala32Val					LDLRAD2_ENST00000543870.1_Missense_Mutation_p.A32V	p.A32V	NM_001013693.2	NP_001013715.2	Q5SZI1	LRAD2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;5.2e-26)|COAD - Colon adenocarcinoma(152;1.13e-05)|GBM - Glioblastoma multiforme(114;1.36e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000544)|KIRC - Kidney renal clear cell carcinoma(1967;0.00598)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.197)	2	282	+		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.00166)|all_lung(284;0.00172)|Breast(348;0.012)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)	32					B9EJB3|Q6ZSN5	Missense_Mutation	SNP	ENST00000344642.2	37	c.95C>T	CCDS30624.1	.	.	.	.	.	.	.	.	.	.	C	5.207	0.223666	0.09863	.	.	ENSG00000187942	ENST00000344642;ENST00000543870	T;T	0.34275	1.37;1.37	4.28	-0.872	0.10638	.	0.711165	0.11881	N	0.520495	T	0.10121	0.0248	N	0.01505	-0.83	0.26937	N	0.966323	B	0.02656	0.0	B	0.04013	0.001	T	0.31558	-0.9939	10	0.13470	T	0.59	-5.6154	3.6229	0.08103	0.1644:0.3168:0.0:0.5188	.	32	Q5SZI1	LRAD2_HUMAN	V	32	ENSP00000340988:A32V;ENSP00000444097:A32V	ENSP00000340988:A32V	A	+	2	0	LDLRAD2	22013487	1.000000	0.71417	0.958000	0.39756	0.539000	0.34962	1.643000	0.37217	-0.346000	0.08312	0.297000	0.19635	GCG		0.692	LDLRAD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007601.1	NM_001013693		12	11	0	0	0	1	0	12	11					T	22140900	C	T	22140900	3	4	435	1	0	0	0	0	1	0	0	0	8706	768	27	1	101	1	LDLRAD2	1	22140900	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	205539	22140900	227109721	147	21072											
HSPG2	3339	broad.mit.edu	37	chr1	22161368	22161368	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcacccagtgccaggcattcGaactccacggcgtggccaac	9	6	10	16	3	1	0	1	0	0	0	3	1	2	0	4	3	3	1	4	3	2	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:22161368G>A	ENST00000374695.3	-	77	10603	c.10524C>T	c.(10522-10524)ttC>ttT	p.F3508F		NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	3508	Ig-like C2-type 21.				angiogenesis (GO:0001525)|brain development (GO:0007420)|carbohydrate metabolic process (GO:0005975)|cardiac muscle tissue development (GO:0048738)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|chondrocyte differentiation (GO:0002062)|chondroitin sulfate metabolic process (GO:0030204)|embryonic skeletal system morphogenesis (GO:0048704)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|lipoprotein metabolic process (GO:0042157)|phototransduction, visible light (GO:0007603)|protein localization (GO:0008104)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	basal lamina (GO:0005605)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Palifermin(DB00039)	CCAGGCATTCGAACTCCACGG	0.637																																						ENST00000374695.3																			0				breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127						c.(10522-10524)ttC>ttT		heparan sulfate proteoglycan 2	Becaplermin(DB00102)|Palifermin(DB00039)						75	63	67					1																	22161368		2203	4300	6503	SO:0001819	synonymous_variant	3339				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding	g.chr1:22161368G>A	M85289	CCDS30625.1	1p36.1-p35	2013-01-29	2007-02-16	2007-02-16	ENSG00000142798	ENSG00000142798		"Proteoglycans / Extracellular Matrix : Other", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5273	protein-coding gene	gene with protein product	"perlecan proteoglycan"	142461	"Schwartz-Jampel syndrome 1 (chondrodystrophic myotonia)"	SJS1		1685141, 11941538	Standard	XM_005245863		Approved	perlecan, PRCAN	uc001bfj.3	P98160	OTTHUMG00000002674	ENST00000374695.3:c.10524C>T	1.37:g.22161368G>A							p.F3508F	NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	77	10603	-		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)	3508			Ig-like C2-type 21.		Q16287|Q5SZI3|Q9H3V5	Silent	SNP	ENST00000374695.3	37	c.10524C>T	CCDS30625.1																																																																																				0.637	HSPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007598.1	NM_005529		6	26	0	0	0	1	0	6	26					A	22161368	G	A	22161368	2	1	435	1	0	0	0	0	0	0	0	1	7430	1049	37	2		2	HSPG2	1	22161368	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	20468	22161368	227089253	148	21073											
HSPG2	3339	broad.mit.edu	37	chr1	22167685	22167685	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gggtccaacgagcagaggagCggggctccccggcactgaca	9	3	16	13	3	0	2	0	1	0	1	2	4	2	3	3	5	3	3	3	5	1	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:22167685C>T	ENST00000374695.3	-	71	9501	c.9422G>A	c.(9421-9423)cGc>cAc	p.R3141H		NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	3141	Ig-like C2-type 17.				angiogenesis (GO:0001525)|brain development (GO:0007420)|carbohydrate metabolic process (GO:0005975)|cardiac muscle tissue development (GO:0048738)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|chondrocyte differentiation (GO:0002062)|chondroitin sulfate metabolic process (GO:0030204)|embryonic skeletal system morphogenesis (GO:0048704)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|lipoprotein metabolic process (GO:0042157)|phototransduction, visible light (GO:0007603)|protein localization (GO:0008104)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	basal lamina (GO:0005605)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Palifermin(DB00039)	AGCAGAGGAGCGGGGCTCCCC	0.667																																						ENST00000374695.3																			0				breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127						c.(9421-9423)cGc>cAc		heparan sulfate proteoglycan 2	Becaplermin(DB00102)|Palifermin(DB00039)						35	40	38					1																	22167685		2203	4300	6503	SO:0001583	missense	3339				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding	g.chr1:22167685C>T	M85289	CCDS30625.1	1p36.1-p35	2013-01-29	2007-02-16	2007-02-16	ENSG00000142798	ENSG00000142798		"Proteoglycans / Extracellular Matrix : Other", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5273	protein-coding gene	gene with protein product	"perlecan proteoglycan"	142461	"Schwartz-Jampel syndrome 1 (chondrodystrophic myotonia)"	SJS1		1685141, 11941538	Standard	XM_005245863		Approved	perlecan, PRCAN	uc001bfj.3	P98160	OTTHUMG00000002674	ENST00000374695.3:c.9422G>A	1.37:g.22167685C>T	ENSP00000363827:p.Arg3141His						p.R3141H	NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	71	9501	-		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)	3141			Ig-like C2-type 17.		Q16287|Q5SZI3|Q9H3V5	Missense_Mutation	SNP	ENST00000374695.3	37	c.9422G>A	CCDS30625.1	.	.	.	.	.	.	.	.	.	.	C	15.90	2.969888	0.53614	.	.	ENSG00000142798	ENST00000374695	T	0.67345	-0.26	4.74	3.82	0.43975	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.40222	N	0.001150	T	0.65943	0.2740	M	0.83312	2.635	0.41814	D	0.989985	B;B	0.24882	0.015;0.113	B;B	0.24848	0.035;0.056	T	0.62011	-0.6944	10	0.15066	T	0.55	.	12.1011	0.53785	0.0:0.9148:0.0:0.0852	.	1081;3141	Q59EG0;P98160	.;PGBM_HUMAN	H	3141	ENSP00000363827:R3141H	ENSP00000363827:R3141H	R	-	2	0	HSPG2	22040272	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	1.188000	0.32102	1.209000	0.43321	0.561000	0.74099	CGC		0.667	HSPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007598.1	NM_005529		9	15	0	0	0	1	0	9	15					T	22167685	C	T	22167685	3	4	435	1	0	0	0	0	1	0	0	0	7430	768	27	1	3861	1	HSPG2	1	22167685	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	6317	22167685	227082936	149	21074											
HSPG2	3339	broad.mit.edu	37	chr1	22174233	22174233	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgtaccatgtgatgatagcCtggggctgcctggcgaccac	7	10	13	11	1	0	2	0	2	0	0	0	3	0	2	4	3	3	2	4	3	2	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:22174233C>A	ENST00000374695.3	-	61	8053	c.7974G>T	c.(7972-7974)caG>caT	p.Q2658H	HSPG2_ENST00000430507.1_3'UTR	NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	2658	Ig-like C2-type 12.				angiogenesis (GO:0001525)|brain development (GO:0007420)|carbohydrate metabolic process (GO:0005975)|cardiac muscle tissue development (GO:0048738)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|chondrocyte differentiation (GO:0002062)|chondroitin sulfate metabolic process (GO:0030204)|embryonic skeletal system morphogenesis (GO:0048704)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|lipoprotein metabolic process (GO:0042157)|phototransduction, visible light (GO:0007603)|protein localization (GO:0008104)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	basal lamina (GO:0005605)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Palifermin(DB00039)	TGATGATAGCCTGGGGCTGCC	0.642																																						ENST00000374695.3																			0				breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127						c.(7972-7974)caG>caT		heparan sulfate proteoglycan 2	Becaplermin(DB00102)|Palifermin(DB00039)						47	45	45					1																	22174233		2203	4300	6503	SO:0001583	missense	3339				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding	g.chr1:22174233C>A	M85289	CCDS30625.1	1p36.1-p35	2013-01-29	2007-02-16	2007-02-16	ENSG00000142798	ENSG00000142798		"Proteoglycans / Extracellular Matrix : Other", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5273	protein-coding gene	gene with protein product	"perlecan proteoglycan"	142461	"Schwartz-Jampel syndrome 1 (chondrodystrophic myotonia)"	SJS1		1685141, 11941538	Standard	XM_005245863		Approved	perlecan, PRCAN	uc001bfj.3	P98160	OTTHUMG00000002674	ENST00000374695.3:c.7974G>T	1.37:g.22174233C>A	ENSP00000363827:p.Gln2658His					HSPG2_ENST00000430507.1_3'UTR	p.Q2658H	NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	61	8053	-		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)	2658			Ig-like C2-type 12.		Q16287|Q5SZI3|Q9H3V5	Missense_Mutation	SNP	ENST00000374695.3	37	c.7974G>T	CCDS30625.1	.	.	.	.	.	.	.	.	.	.	C	15.06	2.721598	0.48728	.	.	ENSG00000142798	ENST00000374695;ENST00000453796	T;T	0.68765	-0.35;-0.35	5.13	4.01	0.46588	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.34580	N	0.003848	T	0.51975	0.1706	N	0.20766	0.605	0.37361	D	0.91122	B;B	0.17038	0.018;0.02	B;B	0.28305	0.055;0.088	T	0.55121	-0.8190	10	0.37606	T	0.19	.	11.7988	0.52114	0.0:0.8987:0.0:0.1013	.	598;2658	Q59EG0;P98160	.;PGBM_HUMAN	H	2658;73	ENSP00000363827:Q2658H;ENSP00000396310:Q73H	ENSP00000363827:Q2658H	Q	-	3	2	HSPG2	22046820	0.000000	0.05858	1.000000	0.80357	0.978000	0.69477	-0.374000	0.07484	2.389000	0.81357	0.655000	0.94253	CAG		0.642	HSPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007598.1	NM_005529		6	5	1	0	3.59834e-05	1	3.7043e-05	6	5					A	22174233	C	A	22174233	3	1	435	1	0	0	0	0	1	0	0	0	7430	680	24	5	5349	5	HSPG2	1	22174233	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	6548	22174233	227076388	150	21075											
HSPG2	3339	broad.mit.edu	37	chr1	22179484	22179484	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgggcctgcccgggcaccacGcagttcagatccagggtctg	6	7	14	14	2	2	1	1	0	1	1	3	1	3	1	4	3	1	3	4	3	0	1	rs371437903		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:22179484G>A	ENST00000374695.3	-	51	6598	c.6519C>T	c.(6517-6519)tgC>tgT	p.C2173C	HSPG2_ENST00000430507.1_Silent_p.C119C	NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	2173	Ig-like C2-type 7.				angiogenesis (GO:0001525)|brain development (GO:0007420)|carbohydrate metabolic process (GO:0005975)|cardiac muscle tissue development (GO:0048738)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|chondrocyte differentiation (GO:0002062)|chondroitin sulfate metabolic process (GO:0030204)|embryonic skeletal system morphogenesis (GO:0048704)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|lipoprotein metabolic process (GO:0042157)|phototransduction, visible light (GO:0007603)|protein localization (GO:0008104)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	basal lamina (GO:0005605)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Palifermin(DB00039)	CGGGCACCACGCAGTTCAGAT	0.716																																						ENST00000374695.3																			0				breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127						c.(6517-6519)tgC>tgT		heparan sulfate proteoglycan 2	Becaplermin(DB00102)|Palifermin(DB00039)	G		0,4406		0,0,2203	48	50	49		6519	-6.1	0.8	1		49	1,8597	1.2+/-3.3	0,1,4298	no	coding-synonymous	HSPG2	NM_005529.5		0,1,6501	AA,AG,GG		0.0116,0.0,0.0077		2173/4392	22179484	1,13003	2203	4299	6502	SO:0001819	synonymous_variant	3339				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding	g.chr1:22179484G>A	M85289	CCDS30625.1	1p36.1-p35	2013-01-29	2007-02-16	2007-02-16	ENSG00000142798	ENSG00000142798		"Proteoglycans / Extracellular Matrix : Other", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5273	protein-coding gene	gene with protein product	"perlecan proteoglycan"	142461	"Schwartz-Jampel syndrome 1 (chondrodystrophic myotonia)"	SJS1		1685141, 11941538	Standard	XM_005245863		Approved	perlecan, PRCAN	uc001bfj.3	P98160	OTTHUMG00000002674	ENST00000374695.3:c.6519C>T	1.37:g.22179484G>A						HSPG2_ENST00000430507.1_Silent_p.C119C	p.C2173C	NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	51	6598	-		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)	2173			Ig-like C2-type 7.		Q16287|Q5SZI3|Q9H3V5	Silent	SNP	ENST00000374695.3	37	c.6519C>T	CCDS30625.1																																																																																				0.716	HSPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007598.1	NM_005529		21	24	0	0	0	1	0	21	24					A	22179484	G	A	22179484	2	1	435	1	0	0	0	0	0	0	0	1	7430	1079	38	1		1	HSPG2	1	22179484	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	5251	22179484	227071137	151	21076											
HSPG2	3339	broad.mit.edu	37	chr1	22192252	22192252	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gagagtgggctgccctgtggGcctgctgtgtaggagagggt	5	9	20	7	0	0	2	0	0	0	2	0	4	0	2	2	4	2	3	2	4	1	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:22192252G>A	ENST00000374695.3	-	34	4351	c.4272C>T	c.(4270-4272)ggC>ggT	p.G1424G		NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	1424	Laminin IV type A 3. {ECO:0000255|PROSITE-ProRule:PRU00458}.				angiogenesis (GO:0001525)|brain development (GO:0007420)|carbohydrate metabolic process (GO:0005975)|cardiac muscle tissue development (GO:0048738)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|chondrocyte differentiation (GO:0002062)|chondroitin sulfate metabolic process (GO:0030204)|embryonic skeletal system morphogenesis (GO:0048704)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|lipoprotein metabolic process (GO:0042157)|phototransduction, visible light (GO:0007603)|protein localization (GO:0008104)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	basal lamina (GO:0005605)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Palifermin(DB00039)	TGCCCTGTGGGCCTGCTGTGT	0.622																																						ENST00000374695.3																			0				breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127						c.(4270-4272)ggC>ggT		heparan sulfate proteoglycan 2	Becaplermin(DB00102)|Palifermin(DB00039)						164	139	148					1																	22192252		2203	4300	6503	SO:0001819	synonymous_variant	3339				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding	g.chr1:22192252G>A	M85289	CCDS30625.1	1p36.1-p35	2013-01-29	2007-02-16	2007-02-16	ENSG00000142798	ENSG00000142798		"Proteoglycans / Extracellular Matrix : Other", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5273	protein-coding gene	gene with protein product	"perlecan proteoglycan"	142461	"Schwartz-Jampel syndrome 1 (chondrodystrophic myotonia)"	SJS1		1685141, 11941538	Standard	XM_005245863		Approved	perlecan, PRCAN	uc001bfj.3	P98160	OTTHUMG00000002674	ENST00000374695.3:c.4272C>T	1.37:g.22192252G>A							p.G1424G	NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	34	4351	-		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)	1424			Laminin IV type A 3.		Q16287|Q5SZI3|Q9H3V5	Silent	SNP	ENST00000374695.3	37	c.4272C>T	CCDS30625.1																																																																																				0.622	HSPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007598.1	NM_005529		37	102	0	0	0	1	0	37	102					A	22192252	G	A	22192252	2	1	435	1	0	0	0	0	0	0	0	1	7430	1190	42	3		3	HSPG2	1	22192252	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	12768	22192252	227058369	152	21077											
WNT4	54361	broad.mit.edu	37	chr1	22446662	22446662	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgcgccgtgtggaagccgcGgccacagcacagcagctcac	8	4	13	16	4	1	0	1	0	0	0	1	1	1	1	3	2	5	3	3	2	1	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:22446662G>A	ENST00000290167.6	-	5	980	c.937C>T	c.(937-939)Cgc>Tgc	p.R313C	WNT4_ENST00000542383.1_Missense_Mutation_p.R258C	NM_030761.4	NP_110388.2	P56705	WNT4_HUMAN	wingless-type MMTV integration site family, member 4	313					adrenal gland development (GO:0030325)|androgen biosynthetic process (GO:0006702)|branching involved in ureteric bud morphogenesis (GO:0001658)|canonical Wnt signaling pathway (GO:0060070)|cell fate commitment (GO:0045165)|cellular response to starvation (GO:0009267)|cellular response to transforming growth factor beta stimulus (GO:0071560)|embryonic epithelial tube formation (GO:0001838)|epithelial to mesenchymal transition (GO:0001837)|establishment of protein localization to plasma membrane (GO:0090002)|female gonad development (GO:0008585)|female sex determination (GO:0030237)|immature T cell proliferation in thymus (GO:0033080)|kidney development (GO:0001822)|liver development (GO:0001889)|male gonad development (GO:0008584)|mammary gland epithelium development (GO:0061180)|mesenchymal to epithelial transition (GO:0060231)|metanephric mesenchymal cell differentiation (GO:0072162)|metanephric nephron morphogenesis (GO:0072273)|metanephric tubule formation (GO:0072174)|negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell differentiation (GO:0045596)|negative regulation of cell migration (GO:0030336)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|negative regulation of gene expression (GO:0010629)|negative regulation of male gonad development (GO:2000019)|negative regulation of steroid biosynthetic process (GO:0010894)|negative regulation of testicular blood vessel morphogenesis (GO:0061369)|negative regulation of testosterone biosynthetic process (GO:2000225)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of wound healing (GO:0061045)|neuron differentiation (GO:0030182)|non-canonical Wnt signaling pathway via MAPK cascade (GO:0038030)|oocyte development (GO:0048599)|paramesonephric duct development (GO:0061205)|positive regulation of aldosterone biosynthetic process (GO:0032349)|positive regulation of bone mineralization (GO:0030501)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of cortisol biosynthetic process (GO:2000066)|positive regulation of dermatome development (GO:0061184)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of meiosis (GO:0045836)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription, DNA-templated (GO:0045893)|protein palmitoylation (GO:0018345)|regulation of cell-cell adhesion (GO:0022407)|renal vesicle formation (GO:0072033)|renal vesicle induction (GO:0072034)|smooth muscle cell differentiation (GO:0051145)|somatotropin secreting cell differentiation (GO:0060126)|tertiary branching involved in mammary gland duct morphogenesis (GO:0060748)|thyroid-stimulating hormone-secreting cell differentiation (GO:0060129)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)|receptor agonist activity (GO:0048018)|transcription corepressor activity (GO:0003714)			breast(1)|endometrium(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(2)	8		Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;6.55e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;9.02e-26)|Colorectal(126;1.71e-07)|COAD - Colon adenocarcinoma(152;1.17e-05)|GBM - Glioblastoma multiforme(114;2.01e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000568)|KIRC - Kidney renal clear cell carcinoma(1967;0.00277)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.138)		TGGAAGCCGCGGCCACAGCAC	0.657																																						ENST00000290167.6																			0				breast(1)|endometrium(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(2)	8						c.(937-939)Cgc>Tgc		wingless-type MMTV integration site family, member 4							39	35	36					1																	22446662		2203	4300	6503	SO:0001583	missense	54361				adrenal gland development|androgen biosynthetic process|anterior/posterior pattern formation|axis specification|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway|cellular response to transforming growth factor beta stimulus|dermatome development|endoderm development|epithelial to mesenchymal transition|establishment of protein localization in plasma membrane|female gonad development|female sex determination|liver development|male gonad development|mesonephric tubule development|metanephric mesenchymal cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of male gonad development|negative regulation of testicular blood vessel morphogenesis|negative regulation of testosterone biosynthetic process|negative regulation of transcription, DNA-dependent|oocyte development|paramesonephric duct development|positive regulation of aldosterone biosynthetic process|positive regulation of bone mineralization|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of collagen biosynthetic process|positive regulation of cortisol biosynthetic process|positive regulation of osteoblast differentiation|positive regulation of transcription, DNA-dependent|protein palmitoylation|renal vesicle formation|smooth muscle cell differentiation|somatotropin secreting cell differentiation|tertiary branching involved in mammary gland duct morphogenesis|thyroid-stimulating hormone-secreting cell differentiation|Wnt receptor signaling pathway, calcium modulating pathway	cell surface|extracellular space|Golgi apparatus|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|signal transducer activity|transcription corepressor activity	g.chr1:22446662G>A	AL031281	CCDS223.1	1p36.23-p35.1	2013-02-28			ENSG00000162552	ENSG00000162552		"Wingless-type MMTV integration sites", "Endogenous ligands"	12783	protein-coding gene	gene with protein product		603490				8168088	Standard	NM_030761		Approved	WNT-4	uc001bfs.4	P56705	OTTHUMG00000002894	ENST00000290167.6:c.937C>T	1.37:g.22446662G>A	ENSP00000290167:p.Arg313Cys					WNT4_ENST00000542383.1_Missense_Mutation_p.R258C	p.R313C	NM_030761.4	NP_110388.2	P56705	WNT4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;9.02e-26)|Colorectal(126;1.71e-07)|COAD - Colon adenocarcinoma(152;1.17e-05)|GBM - Glioblastoma multiforme(114;2.01e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000568)|KIRC - Kidney renal clear cell carcinoma(1967;0.00277)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.138)	5	980	-		Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;6.55e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)	313					B4DJF9|Q5TZQ0|Q96T81|Q9BXF5|Q9H1J8|Q9UJM2	Missense_Mutation	SNP	ENST00000290167.6	37	c.937C>T	CCDS223.1	.	.	.	.	.	.	.	.	.	.	g	21.6	4.171451	0.78452	.	.	ENSG00000162552	ENST00000290167;ENST00000542383	T;T	0.80214	-1.35;-1.35	4.69	4.69	0.59074	.	0.000000	0.85682	D	0.000000	D	0.91925	0.7443	H	0.95151	3.63	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.93501	0.6844	10	0.87932	D	0	.	11.7721	0.51965	0.0:0.0:0.8239:0.1761	.	313	P56705	WNT4_HUMAN	C	313;258	ENSP00000290167:R313C;ENSP00000441033:R258C	ENSP00000290167:R313C	R	-	1	0	WNT4	22319249	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	4.286000	0.58995	2.312000	0.78011	0.450000	0.29827	CGC		0.657	WNT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008088.2			12	12	0	0	0	1	0	12	12					A	22446662	G	A	22446662	3	1	435	1	0	0	0	0	1	0	0	0	17387	1116	39	2	122	2	WNT4	1	22446662	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	254410	22446662	226803959	153	21078											
EPHA8	2046	broad.mit.edu	37	chr1	22902839	22902839	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccgagacggcgcccggcgcGtctatgctgagatcaagttt	7	8	13	13	6	2	2	1	1	1	2	2	4	2	2	2	2	1	2	2	2	2	2	rs562198376		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:22902839G>A	ENST00000166244.3	+	3	361	c.289G>A	c.(289-291)Gtc>Atc	p.V97I	EPHA8_ENST00000538803.1_Missense_Mutation_p.V97I|EPHA8_ENST00000374644.4_Missense_Mutation_p.V97I	NM_020526.3	NP_065387.1	P29322	EPHA8_HUMAN	EPH receptor A8	97	Eph LBD. {ECO:0000255|PROSITE- ProRule:PRU00883}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|ephrin receptor signaling pathway (GO:0048013)|neuron projection development (GO:0031175)|neuron remodeling (GO:0016322)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|protein autophosphorylation (GO:0046777)|regulation of cell adhesion (GO:0030155)|regulation of cell adhesion mediated by integrin (GO:0033628)|substrate-dependent cell migration (GO:0006929)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)	ATP binding (GO:0005524)|GPI-linked ephrin receptor activity (GO:0005004)	p.V97I(1)		breast(3)|central_nervous_system(5)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(6)|lung(22)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		CGCCCGGCGCGTCTATGCTGA	0.607													G|||	1	0.000199681	8e-04	0	5008	,	,		18645	0		0	False		,,,				2504	0					ENST00000166244.3																			1	Substitution - Missense(1)	p.V97I(1)	central_nervous_system(1)	breast(3)|central_nervous_system(5)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(6)|lung(22)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61						c.(289-291)Gtc>Atc		EPH receptor A8							60	60	60					1																	22902839		2203	4300	6503	SO:0001583	missense	2046					integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr1:22902839G>A	BC038796	CCDS225.1, CCDS30626.1	1p36.12	2013-02-11	2004-10-28		ENSG00000070886	ENSG00000070886	2.7.10.1	"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3391	protein-coding gene	gene with protein product		176945	"EphA8"	EEK		1648701	Standard	NM_001006943		Approved	Hek3	uc001bfx.1	P29322	OTTHUMG00000002892	ENST00000166244.3:c.289G>A	1.37:g.22902839G>A	ENSP00000166244:p.Val97Ile					EPHA8_ENST00000374644.4_Missense_Mutation_p.V97I|EPHA8_ENST00000538803.1_Missense_Mutation_p.V97I	p.V97I	NM_020526.3	NP_065387.1	P29322	EPHA8_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)	3	361	+		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)	97					Q6IN80|Q8IUX6|Q9NUA9|Q9P269	Missense_Mutation	SNP	ENST00000166244.3	37	c.289G>A	CCDS225.1	.	.	.	.	.	.	.	.	.	.	G	0.917	-0.717212	0.03182	.	.	ENSG00000070886	ENST00000166244;ENST00000374644;ENST00000538803	T;T;T	0.09538	2.97;2.97;2.97	4.29	4.29	0.51040	Ephrin receptor, ligand binding (2);Galactose-binding domain-like (1);	0.075171	0.53938	D	0.000051	T	0.04634	0.0126	N	0.04275	-0.24	0.38872	D	0.956717	B;B	0.24043	0.096;0.009	B;B	0.17722	0.012;0.019	T	0.19192	-1.0313	10	0.02654	T	1	.	15.4668	0.75406	0.0:0.0:1.0:0.0	.	97;97	P29322;P29322-2	EPHA8_HUMAN;.	I	97	ENSP00000166244:V97I;ENSP00000363775:V97I;ENSP00000440274:V97I	ENSP00000166244:V97I	V	+	1	0	EPHA8	22775426	0.997000	0.39634	0.984000	0.44739	0.505000	0.33919	2.565000	0.45939	2.212000	0.71576	0.442000	0.29010	GTC		0.607	EPHA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008085.1	NM_020526		13	32	0	0	0	1	0	13	32					A	22902839	G	A	22902839	3	1	435	1	0	0	0	0	1	0	0	0	5173	1145	40	1	299	1	EPHA8	1	22902839	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	456177	22902839	226347782	154	21079											
C1QB	713	broad.mit.edu	37	chr1	22987584	22987584	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaacaacaattatgagccccGcagtggcaagttcacctgca	13	7	9	12	1	1	1	1	1	0	0	1	2	1	1	3	1	4	4	3	1	5	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:22987584G>A	ENST00000314933.6	+	3	599	c.467G>A	c.(466-468)cGc>cAc	p.R156H	C1QB_ENST00000509305.1_Missense_Mutation_p.R154H	NM_000491.3	NP_000482.3	P02746	C1QB_HUMAN	complement component 1, q subcomponent, B chain	156	C1q. {ECO:0000255|PROSITE- ProRule:PRU00368}.				complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)|inner ear development (GO:0048839)	blood microparticle (GO:0072562)|collagen trimer (GO:0005581)|complement component C1 complex (GO:0005602)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)				breast(1)|endometrium(2)|large_intestine(1)|lung(9)|prostate(1)	14		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.06e-27)|Colorectal(126;1.58e-07)|GBM - Glioblastoma multiforme(114;6.72e-06)|COAD - Colon adenocarcinoma(152;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000551)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.198)	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	TATGAGCCCCGCAGTGGCAAG	0.592																																						ENST00000509305.1																			0				breast(1)|endometrium(2)|large_intestine(1)|lung(9)|prostate(1)	14						c.(460-462)cGc>cAc		complement component 1, q subcomponent, B chain	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)						117	106	110					1																	22987584		2203	4300	6503	SO:0001583	missense	713				complement activation, classical pathway|innate immune response	collagen|complement component C1 complex		g.chr1:22987584G>A	X03084	CCDS228.1	1p36.3-p34.1	2014-09-17	2006-02-09		ENSG00000173369	ENSG00000173369		"Complement system"	1242	protein-coding gene	gene with protein product		120570	"complement component 1, q subcomponent, beta polypeptide"			1537612	Standard	XM_005245982		Approved		uc001bgd.3	P02746	OTTHUMG00000002896	ENST00000314933.6:c.467G>A	1.37:g.22987584G>A	ENSP00000313967:p.Arg156His					C1QB_ENST00000314933.6_Missense_Mutation_p.R156H	p.R154H			P02746	C1QB_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.06e-27)|Colorectal(126;1.58e-07)|GBM - Glioblastoma multiforme(114;6.72e-06)|COAD - Colon adenocarcinoma(152;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000551)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.198)	3	807	+		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)	156			C1q.		Q5T959|Q96H17	Missense_Mutation	SNP	ENST00000314933.6	37	c.461G>A	CCDS228.1	.	.	.	.	.	.	.	.	.	.	G	13.38	2.221182	0.39201	.	.	ENSG00000173369	ENST00000509305;ENST00000432749;ENST00000314933	T;T;T	0.75477	-0.94;-0.94;-0.94	4.67	4.67	0.58626	Tumour necrosis factor-like (2);Complement C1q protein (4);	0.124054	0.51477	D	0.000081	T	0.69196	0.3084	L	0.52823	1.66	0.09310	N	1	B	0.26547	0.152	B	0.19946	0.027	T	0.58429	-0.7638	9	.	.	.	.	16.6972	0.85339	0.0:0.0:1.0:0.0	.	156	P02746	C1QB_HUMAN	H	154;154;156	ENSP00000423689:R154H;ENSP00000404606:R154H;ENSP00000313967:R156H	.	R	+	2	0	C1QB	22860171	0.007000	0.16637	0.040000	0.18447	0.927000	0.56198	1.933000	0.40153	2.596000	0.87737	0.561000	0.74099	CGC		0.592	C1QB-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_000491		12	46	0	0	0	1	0	12	46					A	22987584	G	A	22987584	3	1	435	1	0	0	0	0	1	0	0	0	1955	1087	38	1	473	1	C1QB	1	22987584	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	84745	22987584	226263037	155	21080											
EPHB2	2048	broad.mit.edu	37	chr1	23219423	23219423	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cataaaaagccccaccaacaCggtcaccgtgcagggcctca	13	4	8	16	2	2	0	2	0	0	0	2	0	2	0	5	2	3	1	5	2	4	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:23219423C>T	ENST00000400191.3	+	7	1493	c.1475C>T	c.(1474-1476)aCg>aTg	p.T492M	EPHB2_ENST00000374630.3_Missense_Mutation_p.T492M|EPHB2_ENST00000374627.1_Missense_Mutation_p.T487M|EPHB2_ENST00000374632.3_Missense_Mutation_p.T492M|EPHB2_ENST00000465676.1_3'UTR	NM_004442.6|NM_017449.3	NP_004433.2|NP_059145.2	P29323	EPHB2_HUMAN	EPH receptor B2	492	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|camera-type eye morphogenesis (GO:0048593)|central nervous system projection neuron axonogenesis (GO:0021952)|commissural neuron axon guidance (GO:0071679)|corpus callosum development (GO:0022038)|dendritic spine development (GO:0060996)|dendritic spine morphogenesis (GO:0060997)|ephrin receptor signaling pathway (GO:0048013)|inner ear morphogenesis (GO:0042472)|learning (GO:0007612)|negative regulation of axonogenesis (GO:0050771)|nervous system development (GO:0007399)|optic nerve morphogenesis (GO:0021631)|palate development (GO:0060021)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|positive regulation of synapse assembly (GO:0051965)|regulation of body fluid levels (GO:0050878)|retinal ganglion cell axon guidance (GO:0031290)|urogenital system development (GO:0001655)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|protein tyrosine kinase activity (GO:0004713)|transmembrane-ephrin receptor activity (GO:0005005)			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(8)|stomach(1)|urinary_tract(1)	56		Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153)		CCCACCAACACGGTCACCGTG	0.577																																						ENST00000400191.3																			0				NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(8)|stomach(1)|urinary_tract(1)	56						c.(1474-1476)aCg>aTg		EPH receptor B2							63	67	66					1																	23219423		2203	4300	6503	SO:0001583	missense	2048				axon guidance	integral to plasma membrane	ATP binding|transmembrane-ephrin receptor activity	g.chr1:23219423C>T	AF025304	CCDS229.2, CCDS230.1	1p36.1-p35	2014-09-17	2004-10-28		ENSG00000133216	ENSG00000133216	2.7.10.1	"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3393	protein-coding gene	gene with protein product		600997	"EphB2"	DRT, ERK, EPHT3		1648701	Standard	NM_017449		Approved	Hek5, Tyro5	uc001bge.3	P29323	OTTHUMG00000002881	ENST00000400191.3:c.1475C>T	1.37:g.23219423C>T	ENSP00000383053:p.Thr492Met					EPHB2_ENST00000374630.3_Missense_Mutation_p.T492M|EPHB2_ENST00000465676.1_3'UTR|EPHB2_ENST00000374632.3_Missense_Mutation_p.T492M|EPHB2_ENST00000374627.1_Missense_Mutation_p.T487M	p.T492M	NM_004442.6|NM_017449.3	NP_004433.2|NP_059145.2	P29323	EPHB2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153)	7	1493	+		Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258)	492			Fibronectin type-III 2.		O43477|Q5T0U6|Q5T0U7|Q5T0U8	Missense_Mutation	SNP	ENST00000400191.3	37	c.1475C>T		.	.	.	.	.	.	.	.	.	.	C	23.0	4.359083	0.82353	.	.	ENSG00000133216	ENST00000374625;ENST00000374630;ENST00000400191;ENST00000374632;ENST00000374627	T;T;T;T	0.59502	0.26;0.26;0.26;0.26	5.23	5.23	0.72850	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.057993	0.64402	D	0.000002	T	0.53094	0.1775	L	0.46157	1.445	0.80722	D	1	B;P;B;B	0.34662	0.085;0.462;0.325;0.139	B;B;B;B	0.33254	0.025;0.16;0.16;0.099	T	0.55698	-0.8100	10	0.49607	T	0.09	.	17.5404	0.87845	0.0:1.0:0.0:0.0	.	492;492;510;492	A6NJM0;P29323;Q4LE53;P29323-3	.;EPHB2_HUMAN;.;.	M	492;492;492;492;487	ENSP00000363761:T492M;ENSP00000383053:T492M;ENSP00000363763:T492M;ENSP00000363758:T487M	ENSP00000363755:T492M	T	+	2	0	EPHB2	23092010	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.585000	0.82584	2.723000	0.93209	0.655000	0.94253	ACG		0.577	EPHB2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000008060.2	NM_017449		3	29	0	0	0	1	0	3	29					T	23219423	C	T	23219423	3	4	435	1	0	0	0	0	1	0	0	0	5175	536	19	1	1501	1	EPHB2	1	23219423	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	231839	23219423	226031198	156	21081											
KDM1A	23028	broad.mit.edu	37	chr1	23397787	23397787	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aagcatctgaagtaaagccaCccagagatattactgccgag	15	7	9	10	1	1	2	0	1	1	1	1	4	1	2	3	0	4	2	3	0	6	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:23397787C>T	ENST00000356634.3	+	11	1560	c.1411C>T	c.(1411-1413)Ccc>Tcc	p.P471S	KDM1A_ENST00000400181.4_Missense_Mutation_p.P495S|RP1-184J9.2_ENST00000427154.1_RNA|KDM1A_ENST00000542151.1_Missense_Mutation_p.P495S	NM_015013.3	NP_055828.2	O60341	KDM1A_HUMAN	lysine (K)-specific demethylase 1A	471	Demethylase activity.				blood coagulation (GO:0007596)|cell proliferation (GO:0008283)|granulocyte differentiation (GO:0030851)|histone H3-K4 demethylation (GO:0034720)|histone H3-K9 demethylation (GO:0033169)|in utero embryonic development (GO:0001701)|muscle cell development (GO:0055001)|negative regulation of DNA binding (GO:0043392)|negative regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043518)|negative regulation of histone H3-K4 methylation (GO:0051572)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:1902166)|negative regulation of protein binding (GO:0032091)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|pituitary gland development (GO:0021983)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of hormone biosynthetic process (GO:0046886)|positive regulation of megakaryocyte differentiation (GO:0045654)|positive regulation of neural precursor cell proliferation (GO:2000179)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of stem cell proliferation (GO:2000648)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein demethylation (GO:0006482)|regulation of primitive erythrocyte differentiation (GO:0010725)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|demethylase activity (GO:0032451)|enzyme binding (GO:0019899)|flavin adenine dinucleotide binding (GO:0050660)|histone demethylase activity (GO:0032452)|histone demethylase activity (H3-dimethyl-K4 specific) (GO:0034648)|histone demethylase activity (H3-K4 specific) (GO:0032453)|histone demethylase activity (H3-K9 specific) (GO:0032454)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|MRF binding (GO:0043426)|oxidoreductase activity (GO:0016491)|p53 binding (GO:0002039)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|central_nervous_system(2)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23						AGTAAAGCCACCCAGAGATAT	0.378																																						ENST00000400181.4																			0				breast(2)|central_nervous_system(2)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23						c.(1483-1485)Ccc>Tcc		lysine (K)-specific demethylase 1A							116	113	114					1																	23397787		2203	4300	6503	SO:0001583	missense	23028				blood coagulation|muscle cell development|negative regulation of apoptosis|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of protein binding|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nuclear chromatin	androgen receptor binding|chromatin binding|enzyme binding|flavin adenine dinucleotide binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-K9 specific)|ligand-dependent nuclear receptor transcription coactivator activity|MyoD binding|oxidoreductase activity|p53 binding|transcription regulatory region DNA binding	g.chr1:23397787C>T	AL031428	CCDS30627.1, CCDS53278.1	1p36.12	2011-07-01	2009-09-29	2009-09-29	ENSG00000004487	ENSG00000004487		"Chromatin-modifying enzymes / K-demethylases"	29079	protein-coding gene	gene with protein product		609132	"amine oxidase (flavin containing) domain 2", "lysine (K)-specific demethylase 1"	AOF2, KDM1		9628581, 12493763	Standard	NM_015013		Approved	KIAA0601, BHC110, LSD1	uc001bgj.2	O60341	OTTHUMG00000003220	ENST00000356634.3:c.1411C>T	1.37:g.23397787C>T	ENSP00000349049:p.Pro471Ser					KDM1A_ENST00000542151.1_Missense_Mutation_p.P495S|KDM1A_ENST00000356634.3_Missense_Mutation_p.P471S|RP1-184J9.2_ENST00000427154.1_RNA	p.P495S	NM_001009999.2	NP_001009999.1	O60341	KDM1A_HUMAN			13	1587	+			471			Demethylase activity.		A8MWP9|Q5TH94|Q5TH95|Q86VT7|Q8IXK4|Q8NDP6|Q8TAZ3|Q96AW4	Missense_Mutation	SNP	ENST00000356634.3	37	c.1483C>T	CCDS30627.1	.	.	.	.	.	.	.	.	.	.	C	18.46	3.629312	0.67015	.	.	ENSG00000004487	ENST00000356634;ENST00000400181;ENST00000542151	T;T;T	0.11169	2.8;2.8;2.8	5.64	5.64	0.86602	Amine oxidase (1);	0.049048	0.85682	D	0.000000	T	0.13841	0.0335	L	0.53561	1.675	0.80722	D	1	B;B	0.26935	0.135;0.164	B;B	0.21708	0.031;0.036	T	0.05305	-1.0893	10	0.25106	T	0.35	-6.0075	18.6845	0.91558	0.0:1.0:0.0:0.0	.	495;471	O60341-2;O60341	.;KDM1A_HUMAN	S	471;495;495	ENSP00000349049:P471S;ENSP00000383042:P495S;ENSP00000439072:P495S	ENSP00000349049:P471S	P	+	1	0	KDM1A	23270374	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.818000	0.86416	2.666000	0.90696	0.655000	0.94253	CCC		0.378	KDM1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000008880.3	NM_015013		36	38	0	0	0	1	0	36	38					T	23397787	C	T	23397787	3	4	435	1	0	0	0	0	1	0	0	0	8122	507	18	3	1533	3	KDM1A	1	23397787	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	178364	23397787	225852834	157	21082											
LUZP1	7798	broad.mit.edu	37	chr1	23417825	23417825	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cccctgaacttggtcctaccCttcgagtgccctgctcaaaa	8	10	7	16	1	1	1	1	1	0	0	3	2	2	1	5	1	4	1	5	1	4	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:23417825C>A	ENST00000302291.4	-	4	3731	c.2930G>T	c.(2929-2931)aGg>aTg	p.R977M	LUZP1_ENST00000418342.1_Missense_Mutation_p.R977M|LUZP1_ENST00000374623.3_Missense_Mutation_p.R977M|LUZP1_ENST00000314174.5_Missense_Mutation_p.R977M			Q86V48	LUZP1_HUMAN	leucine zipper protein 1	977					artery development (GO:0060840)|neural fold bending (GO:0021503)|ventricular septum development (GO:0003281)	membrane (GO:0016020)|nucleus (GO:0005634)				NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(12)|upper_aerodigestive_tract(2)	31		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Ovarian(437;0.00373)|Breast(348;0.00815)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;4.88e-27)|Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;4.31e-06)|GBM - Glioblastoma multiforme(114;8.64e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00112)|KIRC - Kidney renal clear cell carcinoma(1967;0.00176)|STAD - Stomach adenocarcinoma(196;0.0146)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.0967)|LUSC - Lung squamous cell carcinoma(448;0.199)		TGGTCCTACCCTTCGAGTGCC	0.557																																						ENST00000302291.4																			0				NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(12)|upper_aerodigestive_tract(2)	31						c.(2929-2931)aGg>aTg		leucine zipper protein 1							99	85	90					1																	23417825		2203	4300	6503	SO:0001583	missense	7798					nucleus		g.chr1:23417825C>A	BC051733	CCDS30628.1	1p36	2008-02-05			ENSG00000169641	ENSG00000169641			14985	protein-coding gene	gene with protein product		601422				8812416	Standard	NM_033631		Approved	LUZP	uc010odv.1	Q86V48	OTTHUMG00000003227	ENST00000302291.4:c.2930G>T	1.37:g.23417825C>A	ENSP00000303758:p.Arg977Met					LUZP1_ENST00000374623.3_Missense_Mutation_p.R977M|LUZP1_ENST00000418342.1_Missense_Mutation_p.R977M|LUZP1_ENST00000314174.5_Missense_Mutation_p.R977M	p.R977M			Q86V48	LUZP1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;4.88e-27)|Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;4.31e-06)|GBM - Glioblastoma multiforme(114;8.64e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00112)|KIRC - Kidney renal clear cell carcinoma(1967;0.00176)|STAD - Stomach adenocarcinoma(196;0.0146)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.0967)|LUSC - Lung squamous cell carcinoma(448;0.199)	4	3731	-		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Ovarian(437;0.00373)|Breast(348;0.00815)|Myeloproliferative disorder(586;0.0255)	977					Q5TH93|Q8N4X3|Q8TEH1	Missense_Mutation	SNP	ENST00000302291.4	37	c.2930G>T	CCDS30628.1	.	.	.	.	.	.	.	.	.	.	C	16.03	3.007973	0.54361	.	.	ENSG00000169641	ENST00000418342;ENST00000374623;ENST00000302291;ENST00000314174	T;T;T;T	0.19938	2.31;2.31;2.31;2.11	4.93	2.01	0.26516	.	0.362482	0.23787	N	0.044562	T	0.25044	0.0608	L	0.51422	1.61	0.09310	N	0.999997	P;P	0.45827	0.785;0.867	P;P	0.48141	0.568;0.568	T	0.06807	-1.0806	10	0.87932	D	0	.	9.3601	0.38190	0.0:0.8333:0.0:0.1667	.	977;977	Q86V48-2;Q86V48	.;LUZP1_HUMAN	M	977	ENSP00000393460:R977M;ENSP00000363752:R977M;ENSP00000303758:R977M;ENSP00000313705:R977M	ENSP00000303758:R977M	R	-	2	0	LUZP1	23290412	0.001000	0.12720	0.047000	0.18901	0.990000	0.78478	0.111000	0.15458	0.272000	0.22027	0.585000	0.79938	AGG		0.557	LUZP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008900.3	NM_033631		12	16	1	0	2.27111e-07	1	2.37911e-07	12	16					A	23417825	C	A	23417825	3	1	435	1	0	0	0	0	1	0	0	0	9086	681	24	5	308	5	LUZP1	1	23417825	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	20038	23417825	225832796	158	21083											
LUZP1	7798	broad.mit.edu	37	chr1	23417973	23417973	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctaaagatttcaagtctcGcctactcttccaggcattcc	9	14	5	13	1	4	1	1	0	3	1	7	1	6	1	3	1	1	1	3	1	4	6			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:23417973G>A	ENST00000302291.4	-	4	3583	c.2782C>T	c.(2782-2784)Cga>Tga	p.R928*	LUZP1_ENST00000418342.1_Nonsense_Mutation_p.R928*|LUZP1_ENST00000374623.3_Nonsense_Mutation_p.R928*|LUZP1_ENST00000314174.5_Nonsense_Mutation_p.R928*			Q86V48	LUZP1_HUMAN	leucine zipper protein 1	928					artery development (GO:0060840)|neural fold bending (GO:0021503)|ventricular septum development (GO:0003281)	membrane (GO:0016020)|nucleus (GO:0005634)		p.R928*(1)		NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(12)|upper_aerodigestive_tract(2)	31		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Ovarian(437;0.00373)|Breast(348;0.00815)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;4.88e-27)|Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;4.31e-06)|GBM - Glioblastoma multiforme(114;8.64e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00112)|KIRC - Kidney renal clear cell carcinoma(1967;0.00176)|STAD - Stomach adenocarcinoma(196;0.0146)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.0967)|LUSC - Lung squamous cell carcinoma(448;0.199)		TTCAAGTCTCGCCTACTCTTC	0.493																																						ENST00000302291.4																			1	Substitution - Nonsense(1)	p.R928*(1)	lung(1)	NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(12)|upper_aerodigestive_tract(2)	31						c.(2782-2784)Cga>Tga		leucine zipper protein 1							107	107	107					1																	23417973		2203	4300	6503	SO:0001587	stop_gained	7798					nucleus		g.chr1:23417973G>A	BC051733	CCDS30628.1	1p36	2008-02-05			ENSG00000169641	ENSG00000169641			14985	protein-coding gene	gene with protein product		601422				8812416	Standard	NM_033631		Approved	LUZP	uc010odv.1	Q86V48	OTTHUMG00000003227	ENST00000302291.4:c.2782C>T	1.37:g.23417973G>A	ENSP00000303758:p.Arg928*					LUZP1_ENST00000374623.3_Nonsense_Mutation_p.R928*|LUZP1_ENST00000418342.1_Nonsense_Mutation_p.R928*|LUZP1_ENST00000314174.5_Nonsense_Mutation_p.R928*	p.R928*			Q86V48	LUZP1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;4.88e-27)|Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;4.31e-06)|GBM - Glioblastoma multiforme(114;8.64e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00112)|KIRC - Kidney renal clear cell carcinoma(1967;0.00176)|STAD - Stomach adenocarcinoma(196;0.0146)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.0967)|LUSC - Lung squamous cell carcinoma(448;0.199)	4	3583	-		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Ovarian(437;0.00373)|Breast(348;0.00815)|Myeloproliferative disorder(586;0.0255)	928					Q5TH93|Q8N4X3|Q8TEH1	Nonsense_Mutation	SNP	ENST00000302291.4	37	c.2782C>T	CCDS30628.1	.	.	.	.	.	.	.	.	.	.	G	40	7.936392	0.98571	.	.	ENSG00000169641	ENST00000418342;ENST00000374623;ENST00000302291;ENST00000314174	.	.	.	5.08	2.08	0.27032	.	0.178937	0.27039	N	0.021226	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	4.851	0.13537	0.1795:0.0:0.6428:0.1777	.	.	.	.	X	928	.	ENSP00000303758:R928X	R	-	1	2	LUZP1	23290560	0.996000	0.38824	0.993000	0.49108	0.863000	0.49368	2.164000	0.42387	0.512000	0.28257	0.485000	0.47835	CGA		0.493	LUZP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008900.3	NM_033631		58	93	0	0	0	1	0	58	93					A	23417973	G	A	23417973	4	1	435	1	0	0	0	0	0	1	0	0	9086	1095	38	1	456	1	LUZP1	1	23417973	Nonsense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	148	23417973	225832648	159	21084											
HTR1D	3352	broad.mit.edu	37	chr1	23520001	23520001	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaggtgggccgtggtgaagcGcttcccatagagtgagggtg	7	8	19	7	2	0	3	0	2	0	1	1	4	1	3	2	4	1	1	2	4	2	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:23520001G>A	ENST00000374619.1	-	1	1221	c.712C>T	c.(712-714)Cgc>Tgc	p.R238C	HTR1D_ENST00000314113.3_Missense_Mutation_p.R238C	NM_000864.4	NP_000855.1	P28221	5HT1D_HUMAN	5-hydroxytryptamine (serotonin) receptor 1D, G protein-coupled	238					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|intestine smooth muscle contraction (GO:0014827)|regulation of behavior (GO:0050795)|regulation of locomotion (GO:0040012)|response to toxic substance (GO:0009636)|serotonin receptor signaling pathway (GO:0007210)|synaptic transmission (GO:0007268)|vasoconstriction (GO:0042310)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)			NS(1)|large_intestine(3)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	9		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.000779)|all_lung(284;0.00135)|Breast(348;0.0385)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0561)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;4.69e-27)|Colorectal(126;4.86e-08)|COAD - Colon adenocarcinoma(152;2.86e-06)|GBM - Glioblastoma multiforme(114;0.00012)|BRCA - Breast invasive adenocarcinoma(304;0.000949)|KIRC - Kidney renal clear cell carcinoma(1967;0.00122)|STAD - Stomach adenocarcinoma(196;0.0123)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.083)|LUSC - Lung squamous cell carcinoma(448;0.185)	Almotriptan(DB00918)|Amitriptyline(DB00321)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Clozapine(DB00363)|Dihydroergotamine(DB00320)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Frovatriptan(DB00998)|Ketamine(DB01221)|Lisuride(DB00589)|Loxapine(DB00408)|Naratriptan(DB00952)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Pramipexole(DB00413)|Quetiapine(DB01224)|Risperidone(DB00734)|Rizatriptan(DB00953)|Ropinirole(DB00268)|Sumatriptan(DB00669)|Trimipramine(DB00726)|Yohimbine(DB01392)|Ziprasidone(DB00246)|Zolmitriptan(DB00315)	GTGGTGAAGCGCTTCCCATAG	0.627																																						ENST00000374619.1																			0				NS(1)|large_intestine(3)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	9						c.(712-714)Cgc>Tgc		5-hydroxytryptamine (serotonin) receptor 1D, G protein-coupled	Almotriptan(DB00918)|Dihydroergotamine(DB00320)|Eletriptan(DB00216)|Ergotamine(DB00696)|Frovatriptan(DB00998)|Naratriptan(DB00952)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Tegaserod(DB01079)|Ziprasidone(DB00246)|Zolmitriptan(DB00315)						45	49	48					1																	23520001		2203	4300	6503	SO:0001583	missense	3352				G-protein signaling, coupled to cyclic nucleotide second messenger|intestine smooth muscle contraction|synaptic transmission	integral to plasma membrane	serotonin receptor activity	g.chr1:23520001G>A	M89955	CCDS231.1	1p36.3-p34.3	2012-08-08	2012-02-03		ENSG00000179546	ENSG00000179546		"5-HT (serotonin) receptors", "GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"	5289	protein-coding gene	gene with protein product		182133	"5-hydroxytryptamine (serotonin) receptor 1D"	HTRL		2541503, 1662665	Standard	NM_000864		Approved	RDC4, HT1DA, 5-HT1D	uc001bgn.3	P28221	OTTHUMG00000003235	ENST00000374619.1:c.712C>T	1.37:g.23520001G>A	ENSP00000363748:p.Arg238Cys					HTR1D_ENST00000314113.3_Missense_Mutation_p.R238C	p.R238C	NM_000864.4	NP_000855.1	P28221	5HT1D_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;4.69e-27)|Colorectal(126;4.86e-08)|COAD - Colon adenocarcinoma(152;2.86e-06)|GBM - Glioblastoma multiforme(114;0.00012)|BRCA - Breast invasive adenocarcinoma(304;0.000949)|KIRC - Kidney renal clear cell carcinoma(1967;0.00122)|STAD - Stomach adenocarcinoma(196;0.0123)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.083)|LUSC - Lung squamous cell carcinoma(448;0.185)	1	1221	-		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.000779)|all_lung(284;0.00135)|Breast(348;0.0385)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0561)	238						Missense_Mutation	SNP	ENST00000374619.1	37	c.712C>T	CCDS231.1	.	.	.	.	.	.	.	.	.	.	G	17.37	3.371912	0.61624	.	.	ENSG00000179546	ENST00000314113;ENST00000374619	T;T	0.46451	0.87;0.87	5.35	5.35	0.76521	GPCR, rhodopsin-like superfamily (1);	0.055349	0.85682	D	0.000000	T	0.62527	0.2435	M	0.72479	2.2	0.58432	D	0.999996	D	0.89917	1.0	D	0.77004	0.989	T	0.65676	-0.6110	10	0.87932	D	0	.	13.0757	0.59085	0.0:0.0:0.8396:0.1604	.	238	P28221	5HT1D_HUMAN	C	238	ENSP00000313661:R238C;ENSP00000363748:R238C	ENSP00000313661:R238C	R	-	1	0	HTR1D	23392588	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.194000	0.42668	2.522000	0.85027	0.655000	0.94253	CGC		0.627	HTR1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008924.1	NM_000864		6	23	0	0	0	1	0	6	23					A	23520001	G	A	23520001	3	1	435	1	0	0	0	0	1	0	0	0	7438	1087	38	1	425	1	HTR1D	1	23520001	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	102028	23520001	225730620	160	21085											
ZNF436	80818	broad.mit.edu	37	chr1	23688553	23688553	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attcataaggtttctctcccGtgtgaactctttgatgtgtg	7	17	9	8	1	3	2	1	2	2	0	5	2	4	2	1	1	1	1	1	1	2	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:23688553G>A	ENST00000314011.4	-	4	1458	c.1322C>T	c.(1321-1323)aCg>aTg	p.T441M	ZNF436_ENST00000374608.3_Missense_Mutation_p.T441M	NM_001077195.1	NP_001070663.1	Q9C0F3	ZN436_HUMAN	zinc finger protein 436	441					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	19		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;6.44e-26)|Colorectal(126;5.5e-08)|COAD - Colon adenocarcinoma(152;3.09e-06)|GBM - Glioblastoma multiforme(114;5.97e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000977)|KIRC - Kidney renal clear cell carcinoma(1967;0.00336)|STAD - Stomach adenocarcinoma(196;0.0127)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.187)		TTTCTCTCCCGTGTGAACTCT	0.463																																						ENST00000314011.4																			0				breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	19						c.(1321-1323)aCg>aTg		zinc finger protein 436							98	103	101					1																	23688553		2203	4300	6503	SO:0001583	missense	80818				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:23688553G>A	AB051497	CCDS233.1	1p36	2013-01-08			ENSG00000125945	ENSG00000125945		"Zinc fingers, C2H2-type", "-"	20814	protein-coding gene	gene with protein product		611703				11214970	Standard	NM_001077195		Approved	KIAA1710, Zfp46	uc001bgt.3	Q9C0F3	OTTHUMG00000003232	ENST00000314011.4:c.1322C>T	1.37:g.23688553G>A	ENSP00000313582:p.Thr441Met					ZNF436_ENST00000374608.3_Missense_Mutation_p.T441M|ZNF436_ENST00000374609.1_Intron	p.T441M	NM_001077195.1	NP_001070663.1	Q9C0F3	ZN436_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;6.44e-26)|Colorectal(126;5.5e-08)|COAD - Colon adenocarcinoma(152;3.09e-06)|GBM - Glioblastoma multiforme(114;5.97e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000977)|KIRC - Kidney renal clear cell carcinoma(1967;0.00336)|STAD - Stomach adenocarcinoma(196;0.0127)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.187)	4	1458	-		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)	441					Q658I9	Missense_Mutation	SNP	ENST00000314011.4	37	c.1322C>T	CCDS233.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.028673	0.75390	.	.	ENSG00000125945	ENST00000314011;ENST00000374608	T;T	0.26373	1.74;1.74	6.17	6.17	0.99709	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.64402	D	0.000011	T	0.63165	0.2488	M	0.92367	3.3	0.58432	D	0.999993	D	0.89917	1.0	D	0.87578	0.998	T	0.70124	-0.4958	10	0.87932	D	0	-20.0553	18.3732	0.90420	0.0:0.0:1.0:0.0	.	441	Q9C0F3	ZN436_HUMAN	M	441	ENSP00000313582:T441M;ENSP00000363736:T441M	ENSP00000313582:T441M	T	-	2	0	ZNF436	23561140	1.000000	0.71417	0.888000	0.34837	0.981000	0.71138	4.169000	0.58223	2.941000	0.99782	0.655000	0.94253	ACG		0.463	ZNF436-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008908.1	NM_030634		53	60	0	0	0	1	0	53	60					A	23688553	G	A	23688553	3	1	435	1	0	0	0	0	1	0	0	0	17906	1145	40	1	94	1	ZNF436	1	23688553	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	168552	23688553	225562068	161	21086											
ZNF436	80818	broad.mit.edu	37	chr1	23689057	23689057	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attcataaggtttctcacccGtgtgggtcctctggtgctga	6	14	11	10	1	3	1	2	1	2	0	5	1	4	1	2	3	1	2	2	3	1	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:23689057G>A	ENST00000314011.4	-	4	954	c.818C>T	c.(817-819)aCg>aTg	p.T273M	ZNF436_ENST00000374608.3_Missense_Mutation_p.T273M	NM_001077195.1	NP_001070663.1	Q9C0F3	ZN436_HUMAN	zinc finger protein 436	273					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	19		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;6.44e-26)|Colorectal(126;5.5e-08)|COAD - Colon adenocarcinoma(152;3.09e-06)|GBM - Glioblastoma multiforme(114;5.97e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000977)|KIRC - Kidney renal clear cell carcinoma(1967;0.00336)|STAD - Stomach adenocarcinoma(196;0.0127)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.187)		TTTCTCACCCGTGTGGGTCCT	0.532																																						ENST00000314011.4																			0				breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	19						c.(817-819)aCg>aTg		zinc finger protein 436							105	109	107					1																	23689057		2203	4300	6503	SO:0001583	missense	80818				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:23689057G>A	AB051497	CCDS233.1	1p36	2013-01-08			ENSG00000125945	ENSG00000125945		"Zinc fingers, C2H2-type", "-"	20814	protein-coding gene	gene with protein product		611703				11214970	Standard	NM_001077195		Approved	KIAA1710, Zfp46	uc001bgt.3	Q9C0F3	OTTHUMG00000003232	ENST00000314011.4:c.818C>T	1.37:g.23689057G>A	ENSP00000313582:p.Thr273Met					ZNF436_ENST00000374608.3_Missense_Mutation_p.T273M|ZNF436_ENST00000374609.1_Missense_Mutation_p.T273M	p.T273M	NM_001077195.1	NP_001070663.1	Q9C0F3	ZN436_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;6.44e-26)|Colorectal(126;5.5e-08)|COAD - Colon adenocarcinoma(152;3.09e-06)|GBM - Glioblastoma multiforme(114;5.97e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000977)|KIRC - Kidney renal clear cell carcinoma(1967;0.00336)|STAD - Stomach adenocarcinoma(196;0.0127)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.187)	4	954	-		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)	273					Q658I9	Missense_Mutation	SNP	ENST00000314011.4	37	c.818C>T	CCDS233.1	.	.	.	.	.	.	.	.	.	.	G	17.77	3.471717	0.63737	.	.	ENSG00000125945	ENST00000314011;ENST00000374609;ENST00000374608	T;T;T	0.26373	1.74;1.74;1.74	5.79	5.79	0.91817	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.64402	D	0.000011	T	0.53514	0.1801	M	0.74467	2.265	0.54753	D	0.999987	D	0.89917	1.0	D	0.87578	0.998	T	0.54503	-0.8284	10	0.87932	D	0	-19.2469	17.535	0.87827	0.0:0.0:1.0:0.0	.	273	Q9C0F3	ZN436_HUMAN	M	273	ENSP00000313582:T273M;ENSP00000363737:T273M;ENSP00000363736:T273M	ENSP00000313582:T273M	T	-	2	0	ZNF436	23561644	1.000000	0.71417	0.964000	0.40570	0.616000	0.37450	7.992000	0.88273	2.739000	0.93911	0.655000	0.94253	ACG		0.532	ZNF436-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008908.1	NM_030634		45	66	0	0	0	1	0	45	66					A	23689057	G	A	23689057	3	1	435	1	0	0	0	0	1	0	0	0	17906	1145	40	1	598	1	ZNF436	1	23689057	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	504	23689057	225561564	162	21087											
TCEA3	6920	broad.mit.edu	37	chr1	23735189	23735189	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggtctttttggagaggaggaGgcagaagacttggagtccac	10	9	16	6	0	1	3	0	0	1	3	2	7	2	6	1	6	0	1	1	6	1	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:23735189G>T	ENST00000450454.2	-	5	517	c.411C>A	c.(409-411)gcC>gcA	p.A137A	TCEA3_ENST00000461794.1_Silent_p.A100A|TCEA3_ENST00000374601.3_Silent_p.A137A	NM_003196.1	NP_003187.1	O75764	TCEA3_HUMAN	transcription elongation factor A (SII), 3	137	Ser-rich.				regulation of DNA-templated transcription, elongation (GO:0032784)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|urinary_tract(1)	7		Colorectal(325;3.46e-05)|Lung NSC(340;4.16e-05)|all_lung(284;6.68e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.0054)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;1.6e-25)|Colorectal(126;8.32e-08)|COAD - Colon adenocarcinoma(152;4.29e-06)|GBM - Glioblastoma multiforme(114;9e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00112)|KIRC - Kidney renal clear cell carcinoma(1967;0.00424)|STAD - Stomach adenocarcinoma(196;0.0145)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.0963)|LUSC - Lung squamous cell carcinoma(448;0.198)		GAGAGGAGGAGGCAGAAGACT	0.478																																						ENST00000450454.2																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|urinary_tract(1)	7						c.(409-411)gcC>gcA		transcription elongation factor A (SII), 3							105	102	103					1																	23735189		1918	4134	6052	SO:0001819	synonymous_variant	6920				regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription elongation, DNA-dependent	nucleus	DNA binding|translation elongation factor activity|zinc ion binding	g.chr1:23735189G>T	AJ223473	CCDS44086.1	1p36.11	2011-01-25			ENSG00000204219	ENSG00000204219			11615	protein-coding gene	gene with protein product		604128				9790746	Standard	NM_003196		Approved	TFIIS.H	uc021oig.1	O75764	OTTHUMG00000003233	ENST00000450454.2:c.411C>A	1.37:g.23735189G>T						TCEA3_ENST00000461794.1_Silent_p.A100A|TCEA3_ENST00000374601.3_Silent_p.A137A	p.A137A	NM_003196.1	NP_003187.1	O75764	TCEA3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;1.6e-25)|Colorectal(126;8.32e-08)|COAD - Colon adenocarcinoma(152;4.29e-06)|GBM - Glioblastoma multiforme(114;9e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00112)|KIRC - Kidney renal clear cell carcinoma(1967;0.00424)|STAD - Stomach adenocarcinoma(196;0.0145)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.0963)|LUSC - Lung squamous cell carcinoma(448;0.198)	5	517	-		Colorectal(325;3.46e-05)|Lung NSC(340;4.16e-05)|all_lung(284;6.68e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.0054)|Myeloproliferative disorder(586;0.0255)	137			Ser-rich.		A8K2K7|Q5DR83	Silent	SNP	ENST00000450454.2	37	c.411C>A	CCDS44086.1																																																																																				0.478	TCEA3-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008911.2	NM_003196		6	9	1	0	0.00116845	1	0.0011864	6	9					T	23735189	G	T	23735189	2	4	435	1	0	0	0	0	0	0	0	1	15666	987	35	5		5	TCEA3	1	23735189	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	46132	23735189	225515432	163	21088											
GALE	11313	broad.mit.edu	37	chr1	24122731	24122731	+	IGR	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctgccacatcaccttcccGccgtgccaccaccttgtacg	6	8	8	19	3	1	0	1	0	0	0	2	0	2	0	7	1	3	2	7	1	1	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:24122731G>A	ENST00000374514.3	+	0	1810				GALE_ENST00000374497.3_Missense_Mutation_p.R300W|GALE_ENST00000470383.1_5'Flank	NM_007260.2	NP_009191.1	O95372	LYPA2_HUMAN	lysophospholipase II						fatty acid metabolic process (GO:0006631)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	hydrolase activity (GO:0016787)			endometrium(3)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	8		Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;1.79e-24)|Colorectal(126;4.8e-08)|COAD - Colon adenocarcinoma(152;2.83e-06)|GBM - Glioblastoma multiforme(114;4.22e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000946)|KIRC - Kidney renal clear cell carcinoma(1967;0.00314)|STAD - Stomach adenocarcinoma(196;0.0123)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0827)|LUSC - Lung squamous cell carcinoma(448;0.184)		TCACCTTCCCGCCGTGCCACC	0.617																																						ENST00000374497.3																			0				endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(2)	8						c.(898-900)Cgg>Tgg		UDP-galactose-4-epimerase							62	59	60					1																	24122731		2203	4300	6503	SO:0001628	intergenic_variant	2582				galactose catabolic process	cytosol	coenzyme binding|protein homodimerization activity|UDP-glucose 4-epimerase activity	g.chr1:24122731G>A	AF098668	CCDS241.1	1p36.11	2008-08-08			ENSG00000011009	ENSG00000011009	3.1.1.5		6738	protein-coding gene	gene with protein product							Standard	NM_007260		Approved	APT-2	uc001bht.3	O95372	OTTHUMG00000002961		1.37:g.24122731G>A							p.R300W	NM_000403.3|NM_001008216.1|NM_001127621.1	NP_000394.2|NP_001008217.1|NP_001121093.1	Q14376	GALE_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;1.79e-24)|Colorectal(126;4.8e-08)|COAD - Colon adenocarcinoma(152;2.83e-06)|GBM - Glioblastoma multiforme(114;4.22e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000946)|KIRC - Kidney renal clear cell carcinoma(1967;0.00314)|STAD - Stomach adenocarcinoma(196;0.0123)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0827)|LUSC - Lung squamous cell carcinoma(448;0.184)	11	989	-		Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)	300					Q7Z4Z2	Missense_Mutation	SNP	ENST00000374514.3	37	c.898C>T	CCDS241.1	.	.	.	.	.	.	.	.	.	.	G	23.5	4.419684	0.83559	.	.	ENSG00000117308	ENST00000374498;ENST00000374497;ENST00000456977;ENST00000429356	D;D;D	0.95238	-3.65;-3.65;-3.65	5.39	4.42	0.53409	.	0.000000	0.85682	D	0.000000	D	0.98454	0.9485	H	0.99634	4.67	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.97965	1.0340	10	0.87932	D	0	-22.8272	10.6764	0.45789	0.0:0.1422:0.7104:0.1474	.	226;300;300	B3KQ39;Q38G75;Q14376	.;.;GALE_HUMAN	W	210;300;60;210	ENSP00000363621:R300W;ENSP00000397045:R60W;ENSP00000398585:R210W	ENSP00000363621:R300W	R	-	1	2	GALE	23995318	0.992000	0.36948	1.000000	0.80357	0.991000	0.79684	1.765000	0.38481	2.540000	0.85666	0.462000	0.41574	CGG		0.617	LYPLA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008245.1			18	21	0	0	0	1	0	18	21					A	24122731	G	A	24122731	1	1	435	0	1	0	0	0	0	0	0	0	6202	1086	38	1		1	GALE	1	24122731	IGR	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	387542	24122731	225127890	164	21089											
HMGCL	3155	broad.mit.edu	37	chr1	24147063	24147063	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcacccgctttggtaaagtGcccatagatgaggtgctgac	9	11	11	10	1	1	3	1	2	0	1	1	3	1	3	2	2	2	3	2	2	3	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:24147063G>C	ENST00000374490.3	-	2	124	c.81C>G	c.(79-81)ggC>ggG	p.G27G	HMGCL_ENST00000374483.4_Silent_p.G2G|HMGCL_ENST00000436439.2_Silent_p.G27G|HMGCL_ENST00000509389.1_5'UTR	NM_000191.2	NP_000182.2	P35914	HMGCL_HUMAN	3-hydroxymethyl-3-methylglutaryl-CoA lyase	27					acyl-CoA metabolic process (GO:0006637)|cellular ketone body metabolic process (GO:0046950)|cellular lipid metabolic process (GO:0044255)|ketone body biosynthetic process (GO:0046951)|leucine catabolic process (GO:0006552)|liver development (GO:0001889)|mitochondrion organization (GO:0007005)|protein tetramerization (GO:0051262)|response to fatty acid (GO:0070542)|response to nutrient (GO:0007584)|response to starvation (GO:0042594)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|peroxisome (GO:0005777)	carboxylic acid binding (GO:0031406)|fatty-acyl-CoA binding (GO:0000062)|hydroxymethylglutaryl-CoA lyase activity (GO:0004419)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	12		Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Ovarian(437;0.00348)|Breast(348;0.0044)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.38e-24)|Colorectal(126;5.58e-08)|COAD - Colon adenocarcinoma(152;3.12e-06)|GBM - Glioblastoma multiforme(114;4.9e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000982)|KIRC - Kidney renal clear cell carcinoma(1967;0.0034)|STAD - Stomach adenocarcinoma(196;0.0128)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0856)|LUSC - Lung squamous cell carcinoma(448;0.188)		TTGGTAAAGTGCCCATAGATG	0.398																																						ENST00000374483.4																			0				central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	12						c.(4-6)ggC>ggG		3-hydroxymethyl-3-methylglutaryl-CoA lyase							143	127	132					1																	24147063		2203	4300	6503	SO:0001819	synonymous_variant	3155				acetoacetic acid biosynthetic process|ketone body biosynthetic process	mitochondrial matrix	hydroxymethylglutaryl-CoA lyase activity|metal ion binding	g.chr1:24147063G>C	BC010570	CCDS243.1, CCDS53279.1	1p36.1-p35	2010-04-30	2010-04-30		ENSG00000117305	ENSG00000117305	4.1.3.4		5005	protein-coding gene	gene with protein product	"hydroxymethylglutaricaciduria"	613898	"3-hydroxymethyl-3-methylglutaryl-Coenzyme A lyase"			8102917, 8978493	Standard	NM_001166059		Approved	HL	uc001bib.3	P35914	OTTHUMG00000002963	ENST00000374490.3:c.81C>G	1.37:g.24147063G>C						HMGCL_ENST00000374490.3_Silent_p.G27G|HMGCL_ENST00000436439.2_Silent_p.G27G|HMGCL_ENST00000509389.1_5'UTR	p.G2G			P35914	HMGCL_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.38e-24)|Colorectal(126;5.58e-08)|COAD - Colon adenocarcinoma(152;3.12e-06)|GBM - Glioblastoma multiforme(114;4.9e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000982)|KIRC - Kidney renal clear cell carcinoma(1967;0.0034)|STAD - Stomach adenocarcinoma(196;0.0128)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0856)|LUSC - Lung squamous cell carcinoma(448;0.188)	3	677	-		Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Ovarian(437;0.00348)|Breast(348;0.0044)|Myeloproliferative disorder(586;0.0255)	27					B4DUP4|B7UCC6|D3Y5K7|Q6IBC0|Q96FP8	Silent	SNP	ENST00000374490.3	37	c.6C>G	CCDS243.1	.	.	.	.	.	.	.	.	.	.	G	6.955	0.546093	0.13312	.	.	ENSG00000117305	ENST00000235958	.	.	.	5.27	0.542	0.17174	.	.	.	.	.	T	0.22085	0.0532	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.22906	-1.0203	4	.	.	.	2.1546	3.206	0.06666	0.3064:0.0:0.1833:0.5103	.	.	.	.	G	23	.	.	A	-	2	0	HMGCL	24019650	0.000000	0.05858	0.008000	0.14137	0.846000	0.48090	0.248000	0.18198	0.228000	0.21019	0.558000	0.71614	GCA		0.398	HMGCL-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008253.2	NM_000191		24	57	0	0	0	1	0	24	57					C	24147063	G	C	24147063	2	2	435	1	0	0	0	0	0	0	0	1	7229	1306	46	5		5	HMGCL	1	24147063	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	24332	24147063	225103558	165	21090											
FUCA1	2517	broad.mit.edu	37	chr1	24180991	24180991	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aatttatcttcacagttataGtatcctccatggtgacagga	12	14	7	8	0	2	1	1	1	1	0	4	2	4	2	2	2	0	2	2	2	5	6			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:24180991G>T	ENST00000374479.3	-	5	835	c.828C>A	c.(826-828)taC>taA	p.Y276*		NM_000147.4	NP_000138.2	P04066	FUCO_HUMAN	fucosidase, alpha-L- 1, tissue	276					fucose metabolic process (GO:0006004)|glycosaminoglycan catabolic process (GO:0006027)|glycoside catabolic process (GO:0016139)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	alpha-L-fucosidase activity (GO:0004560)|fucose binding (GO:0042806)			breast(1)|endometrium(1)|large_intestine(3)|lung(3)	8		Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Ovarian(437;0.00348)|Breast(348;0.00957)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;1.11e-24)|Colorectal(126;5.69e-08)|COAD - Colon adenocarcinoma(152;3.15e-06)|GBM - Glioblastoma multiforme(114;9.04e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000986)|KIRC - Kidney renal clear cell carcinoma(1967;0.00342)|STAD - Stomach adenocarcinoma(196;0.0128)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.144)		CACAGTTATAGTATCCTCCAT	0.458																																						ENST00000374479.3																			0				breast(1)|endometrium(1)|large_intestine(3)|lung(3)	8						c.(826-828)taC>taA		fucosidase, alpha-L- 1, tissue							128	122	124					1																	24180991		2203	4300	6503	SO:0001587	stop_gained	2517				fucose metabolic process|glycosaminoglycan catabolic process	lysosome	alpha-L-fucosidase activity|cation binding	g.chr1:24180991G>T	BC017338	CCDS244.2	1p34	2012-10-02			ENSG00000179163	ENSG00000179163	3.2.1.51		4006	protein-coding gene	gene with protein product		612280				2803312	Standard	NM_000147		Approved		uc001bie.3	P04066	OTTHUMG00000002965	ENST00000374479.3:c.828C>A	1.37:g.24180991G>T	ENSP00000363603:p.Tyr276*						p.Y276*	NM_000147.4	NP_000138.2	P04066	FUCO_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;1.11e-24)|Colorectal(126;5.69e-08)|COAD - Colon adenocarcinoma(152;3.15e-06)|GBM - Glioblastoma multiforme(114;9.04e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000986)|KIRC - Kidney renal clear cell carcinoma(1967;0.00342)|STAD - Stomach adenocarcinoma(196;0.0128)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.144)	5	835	-		Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Ovarian(437;0.00348)|Breast(348;0.00957)|Myeloproliferative disorder(586;0.0255)	276					B2RBG3|Q14334|Q14335|Q3LID0|Q8NAC2	Nonsense_Mutation	SNP	ENST00000374479.3	37	c.828C>A	CCDS244.2	.	.	.	.	.	.	.	.	.	.	g	23.7	4.443133	0.83993	.	.	ENSG00000179163	ENST00000374479;ENST00000374475	.	.	.	4.74	4.74	0.60224	.	0.231325	0.45867	D	0.000325	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	1.2205	13.4197	0.60989	0.0778:0.0:0.9222:0.0	.	.	.	.	X	276;65	.	ENSP00000363599:Y65X	Y	-	3	2	FUCA1	24053578	1.000000	0.71417	0.999000	0.59377	0.729000	0.41735	2.727000	0.47311	2.477000	0.83638	0.632000	0.83419	TAC		0.458	FUCA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008259.2	NM_000147		53	64	1	0	9.90819e-18	1	1.09129e-17	53	64					T	24180991	G	T	24180991	4	4	435	1	0	0	0	0	0	1	0	0	6094	1024	36	5	588	5	FUCA1	1	24180991	Nonsense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	33928	24180991	225069630	166	21091											
MYOM3	127294	broad.mit.edu	37	chr1	24397623	24397623	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttaccggcgagctgaagatcTccttgttgttgaagattaga	10	13	11	7	2	1	5	0	2	1	3	2	6	1	5	2	1	2	3	2	1	4	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:24397623T>C	ENST00000374434.3	-	25	3296	c.3134A>G	c.(3133-3135)gAg>gGg	p.E1045G	MYOM3_ENST00000330966.7_Missense_Mutation_p.E1046G|RP11-293P20.4_ENST00000429191.1_RNA|RP11-293P20.2_ENST00000439239.2_RNA|MYOM3_ENST00000329601.7_Missense_Mutation_p.E1045G	NM_152372.3	NP_689585.3	Q5VTT5	MYOM3_HUMAN	myomesin 3	1045						M band (GO:0031430)	protein homodimerization activity (GO:0042803)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	68		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)		GCTGAAGATCTCCTTGTTGTT	0.562											OREG0013235	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000330966.7																			0				NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	68						c.(3136-3138)gAg>gGg		myomesin 3							72	71	72					1																	24397623		1928	4136	6064	SO:0001583	missense	127294							g.chr1:24397623T>C	AK093280	CCDS41281.1	1p36	2013-02-11	2012-10-17		ENSG00000142661	ENSG00000142661		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	26679	protein-coding gene	gene with protein product			"myomesin family, member 3"			18177667	Standard	NM_152372		Approved	FLJ35961	uc001bin.4	Q5VTT5	OTTHUMG00000002969	ENST00000374434.3:c.3134A>G	1.37:g.24397623T>C	ENSP00000363557:p.Glu1045Gly		OREG0013235	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	771	MYOM3_ENST00000329601.7_Missense_Mutation_p.E1045G|MYOM3_ENST00000374434.3_Missense_Mutation_p.E1045G|RP11-293P20.4_ENST00000429191.1_RNA|RP11-293P20.2_ENST00000439239.2_RNA	p.E1046G			Q5VTT5	MYOM3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)	25	3299	-		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)	1045					A6NF75|Q5VTT6|Q6AWC0|Q6AWC1|Q6NXF9|Q6ZRG7|Q7Z3G9|Q8NA11|Q96C54	Missense_Mutation	SNP	ENST00000374434.3	37	c.3137A>G	CCDS41281.1	.	.	.	.	.	.	.	.	.	.	T	16.32	3.089930	0.55968	.	.	ENSG00000142661	ENST00000374434;ENST00000330966;ENST00000329601	T;T;T	0.05258	3.47;3.47;3.47	5.54	5.54	0.83059	Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.15696	0.0378	M	0.61703	1.905	0.42909	D	0.994256	B;P	0.51147	0.167;0.942	B;P	0.54759	0.152;0.76	T	0.00308	-1.1829	10	0.62326	D	0.03	.	10.572	0.45206	0.144:0.0:0.0:0.856	.	1045;1045	Q5VTT5-2;Q5VTT5	.;MYOM3_HUMAN	G	1045;1046;1045	ENSP00000363557:E1045G;ENSP00000332670:E1046G;ENSP00000328415:E1045G	ENSP00000328415:E1045G	E	-	2	0	MYOM3	24270210	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	4.199000	0.58426	2.111000	0.64477	0.379000	0.24179	GAG		0.562	MYOM3-001	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000008272.2	NM_152372		14	36	0	0	0	1	0	14	36					C	24397623	T	C	24397623	3	2	435	1	0	0	0	0	1	0	0	0	10093	1551	54	4	1231	4	MYOM3	1	24397623	Missense_Mutation	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	216632	24397623	224852998	167	21092											
MYOM3	127294	broad.mit.edu	37	chr1	24408513	24408513	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tgcagacccgggtggggatgGgctgctgattgaccgcatgc	6	8	17	10	2	0	3	0	2	0	1	0	4	0	4	2	4	3	4	2	4	0	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:24408513G>T	ENST00000374434.3	-	18	2420	c.2258C>A	c.(2257-2259)cCc>cAc	p.P753H	MYOM3_ENST00000475306.1_5'UTR|MYOM3_ENST00000330966.7_Missense_Mutation_p.P754H|RP11-293P20.4_ENST00000429191.1_RNA|RP11-293P20.2_ENST00000439239.2_RNA|MYOM3_ENST00000329601.7_Missense_Mutation_p.P753H	NM_152372.3	NP_689585.3	Q5VTT5	MYOM3_HUMAN	myomesin 3	753	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.					M band (GO:0031430)	protein homodimerization activity (GO:0042803)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	68		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)		GGTGGGGATGGGCTGCTGATT	0.602																																						ENST00000330966.7																			0				NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	68						c.(2260-2262)cCc>cAc		myomesin 3							34	35	35					1																	24408513		2042	4168	6210	SO:0001583	missense	127294							g.chr1:24408513G>T	AK093280	CCDS41281.1	1p36	2013-02-11	2012-10-17		ENSG00000142661	ENSG00000142661		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	26679	protein-coding gene	gene with protein product			"myomesin family, member 3"			18177667	Standard	NM_152372		Approved	FLJ35961	uc001bin.4	Q5VTT5	OTTHUMG00000002969	ENST00000374434.3:c.2258C>A	1.37:g.24408513G>T	ENSP00000363557:p.Pro753His					MYOM3_ENST00000329601.7_Missense_Mutation_p.P753H|MYOM3_ENST00000374434.3_Missense_Mutation_p.P753H|RP11-293P20.4_ENST00000429191.1_RNA|MYOM3_ENST00000475306.1_5'UTR|RP11-293P20.2_ENST00000439239.2_RNA	p.P754H			Q5VTT5	MYOM3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)	18	2423	-		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)	753			Fibronectin type-III 4.		A6NF75|Q5VTT6|Q6AWC0|Q6AWC1|Q6NXF9|Q6ZRG7|Q7Z3G9|Q8NA11|Q96C54	Missense_Mutation	SNP	ENST00000374434.3	37	c.2261C>A	CCDS41281.1	.	.	.	.	.	.	.	.	.	.	G	17.24	3.338518	0.60963	.	.	ENSG00000142661	ENST00000374434;ENST00000330966;ENST00000329601	T;T;T	0.60299	0.2;0.2;0.2	4.76	1.85	0.25348	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.230128	0.45126	D	0.000395	T	0.76449	0.3989	M	0.90595	3.13	0.36629	D	0.876181	B;D	0.76494	0.186;0.999	B;D	0.72625	0.381;0.978	T	0.80221	-0.1472	10	0.87932	D	0	.	9.6841	0.40087	0.2276:0.0:0.7724:0.0	.	753;753	Q5VTT5-2;Q5VTT5	.;MYOM3_HUMAN	H	753;754;753	ENSP00000363557:P753H;ENSP00000332670:P754H;ENSP00000328415:P753H	ENSP00000328415:P753H	P	-	2	0	MYOM3	24281100	1.000000	0.71417	0.386000	0.26170	0.926000	0.56050	4.280000	0.58959	0.184000	0.20083	0.467000	0.42956	CCC		0.602	MYOM3-001	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000008272.2	NM_152372		7	6	1	0	0.00198382	1	0.0020125	7	6					T	24408513	G	T	24408513	3	4	435	1	0	0	0	0	1	0	0	0	10093	1232	43	5	2135	5	MYOM3	1	24408513	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	10890	24408513	224842108	168	21093											
MYOM3	127294	broad.mit.edu	37	chr1	24419488	24419488	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gggtccgaagggcgagggcaCccggaccatgtagagcccct	8	4	16	13	3	0	1	0	0	0	1	1	4	1	2	5	4	1	2	5	4	2	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:24419488C>T	ENST00000374434.3	-	10	1201	c.1039G>A	c.(1039-1041)Gtg>Atg	p.V347M	MYOM3_ENST00000475306.1_5'UTR|MYOM3_ENST00000330966.7_Missense_Mutation_p.V348M|MYOM3_ENST00000329601.7_Missense_Mutation_p.V347M	NM_152372.3	NP_689585.3	Q5VTT5	MYOM3_HUMAN	myomesin 3	347	Ig-like C2-type 2.					M band (GO:0031430)	protein homodimerization activity (GO:0042803)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	68		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)		GGCGAGGGCACCCGGACCATG	0.642																																						ENST00000330966.7																			0				NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	68						c.(1042-1044)Gtg>Atg		myomesin 3							32	37	36					1																	24419488		1985	4141	6126	SO:0001583	missense	127294							g.chr1:24419488C>T	AK093280	CCDS41281.1	1p36	2013-02-11	2012-10-17		ENSG00000142661	ENSG00000142661		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	26679	protein-coding gene	gene with protein product			"myomesin family, member 3"			18177667	Standard	NM_152372		Approved	FLJ35961	uc001bin.4	Q5VTT5	OTTHUMG00000002969	ENST00000374434.3:c.1039G>A	1.37:g.24419488C>T	ENSP00000363557:p.Val347Met					MYOM3_ENST00000329601.7_Missense_Mutation_p.V347M|MYOM3_ENST00000374434.3_Missense_Mutation_p.V347M|MYOM3_ENST00000475306.1_5'UTR	p.V348M			Q5VTT5	MYOM3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)	10	1204	-		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)	347			Ig-like C2-type 2.		A6NF75|Q5VTT6|Q6AWC0|Q6AWC1|Q6NXF9|Q6ZRG7|Q7Z3G9|Q8NA11|Q96C54	Missense_Mutation	SNP	ENST00000374434.3	37	c.1042G>A	CCDS41281.1	.	.	.	.	.	.	.	.	.	.	C	11.76	1.734285	0.30774	.	.	ENSG00000142661	ENST00000374434;ENST00000330966;ENST00000329601	T;T;T	0.71934	-0.61;-0.61;-0.61	5.36	4.38	0.52667	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.363848	0.29594	N	0.011708	T	0.74114	0.3674	L	0.45581	1.43	0.09310	N	0.999996	P;P;D	0.62365	0.884;0.746;0.991	P;P;D	0.64506	0.54;0.511;0.926	T	0.64296	-0.6441	10	0.52906	T	0.07	.	6.8088	0.23792	0.0:0.7272:0.1797:0.093	.	4;347;347	Q6ZU56;Q5VTT5-2;Q5VTT5	.;.;MYOM3_HUMAN	M	347;348;347	ENSP00000363557:V347M;ENSP00000332670:V348M;ENSP00000328415:V347M	ENSP00000328415:V347M	V	-	1	0	MYOM3	24292075	0.799000	0.28903	0.077000	0.20336	0.028000	0.11728	1.975000	0.40569	2.512000	0.84698	0.650000	0.86243	GTG		0.642	MYOM3-001	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000008272.2	NM_152372		5	5	0	0	0	1	0	5	5					T	24419488	C	T	24419488	3	4	435	1	0	0	0	0	1	0	0	0	10093	507	18	3	3386	3	MYOM3	1	24419488	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	10975	24419488	224831133	169	21094											
GRHL3	57822	broad.mit.edu	37	chr1	24673992	24673992	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cggagggagactgaggaggtGtttgacgcgctcatgttgaa	9	9	17	6	3	1	4	1	3	0	1	1	7	1	6	0	4	0	3	0	4	1	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:24673992G>A	ENST00000350501.5	+	14	1705	c.1578G>A	c.(1576-1578)gtG>gtA	p.V526V	GRHL3_ENST00000342072.4_Silent_p.V433V|GRHL3_ENST00000236255.4_Silent_p.V531V|GRHL3_ENST00000361548.4_Silent_p.V526V|GRHL3_ENST00000356046.2_Silent_p.V480V	NM_198174.2	NP_937817.3	Q8TE85	GRHL3_HUMAN	grainyhead-like 3 (Drosophila)	526					central nervous system development (GO:0007417)|cochlea morphogenesis (GO:0090103)|ectoderm development (GO:0007398)|epidermis development (GO:0008544)|establishment of planar polarity (GO:0001736)|eyelid development in camera-type eye (GO:0061029)|pattern specification process (GO:0007389)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of actin cytoskeleton organization (GO:0032956)|wound healing (GO:0042060)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.00171)|all_lung(284;0.00226)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;8.72e-25)|Colorectal(126;4.38e-08)|COAD - Colon adenocarcinoma(152;1.84e-06)|GBM - Glioblastoma multiforme(114;0.000132)|BRCA - Breast invasive adenocarcinoma(304;0.00105)|STAD - Stomach adenocarcinoma(196;0.00151)|KIRC - Kidney renal clear cell carcinoma(1967;0.00377)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.143)		CTGAGGAGGTGTTTGACGCGC	0.582																																						ENST00000361548.4																			0				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						c.(1576-1578)gtG>gtA		grainyhead-like 3 (Drosophila)							184	170	175					1																	24673992		2203	4300	6503	SO:0001819	synonymous_variant	57822				regulation of actin cytoskeleton organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr1:24673992G>A	AY231161	CCDS251.1, CCDS252.1, CCDS44088.1, CCDS252.2, CCDS53284.1	1p36	2008-02-05	2005-07-11	2005-07-11	ENSG00000158055	ENSG00000158055			25839	protein-coding gene	gene with protein product		608317	"transcription factor CP2-like 4"	TFCP2L4		12549979	Standard	NM_021180		Approved	SOM	uc021oiw.1	Q8TE85	OTTHUMG00000003040	ENST00000350501.5:c.1578G>A	1.37:g.24673992G>A						GRHL3_ENST00000356046.2_Silent_p.V480V|GRHL3_ENST00000342072.4_Silent_p.V433V|GRHL3_ENST00000350501.5_Silent_p.V526V|GRHL3_ENST00000236255.4_Silent_p.V531V	p.V526V	NM_198173.2	NP_937816.1	Q8TE85	GRHL3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;8.72e-25)|Colorectal(126;4.38e-08)|COAD - Colon adenocarcinoma(152;1.84e-06)|GBM - Glioblastoma multiforme(114;0.000132)|BRCA - Breast invasive adenocarcinoma(304;0.00105)|STAD - Stomach adenocarcinoma(196;0.00151)|KIRC - Kidney renal clear cell carcinoma(1967;0.00377)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.143)	14	1808	+		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.00171)|all_lung(284;0.00226)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)	526					A2A297|B2RCL1|G3XAF0|Q5TH78|Q86Y06|Q8N407	Silent	SNP	ENST00000350501.5	37	c.1578G>A	CCDS252.2																																																																																				0.582	GRHL3-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000009047.2	NM_021180		9	68	0	0	0	1	0	9	68					A	24673992	G	A	24673992	2	1	435	1	0	0	0	0	0	0	0	1	6765	1364	48	3		3	GRHL3	1	24673992	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	254504	24673992	224576629	170	21095											
NIPAL3	57185	broad.mit.edu	37	chr1	24746044	24746044	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gccactagaccaccatggacGgatcccacagcgcagccctg	10	4	10	17	2	0	1	0	0	0	1	1	3	1	3	5	2	2	1	5	2	1	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:24746044G>A	ENST00000374399.4	+	2	375	c.7G>A	c.(7-9)Gga>Aga	p.G3R	STPG1_ENST00000468303.1_5'Flank|NIPAL3_ENST00000339255.2_Missense_Mutation_p.G3R|NIPAL3_ENST00000358028.4_Missense_Mutation_p.G3R|NIPAL3_ENST00000003912.3_5'UTR|NIPAL3_ENST00000428131.1_Missense_Mutation_p.G3R|NIPAL3_ENST00000488155.1_3'UTR	NM_020448.4	NP_065181.1	Q6P499	NPAL3_HUMAN	NIPA-like domain containing 3	3						integral component of membrane (GO:0016021)	magnesium ion transmembrane transporter activity (GO:0015095)			endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|skin(1)	14						CACCATGGACGGATCCCACAG	0.627																																						ENST00000358028.4																			0				endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|skin(1)	14						c.(7-9)Gga>Aga		NIPA-like domain containing 3							42	39	40					1																	24746044		2203	4300	6503	SO:0001583	missense	57185					integral to membrane		g.chr1:24746044G>A	BX640883	CCDS30631.1	1p36.12-p35.1	2009-03-24		2009-03-24	ENSG00000001461	ENSG00000001461			25233	protein-coding gene	gene with protein product				NPAL3		8619474, 9110174	Standard	NM_020448		Approved	DJ462O23.2	uc001bjh.3	Q6P499	OTTHUMG00000003299	ENST00000374399.4:c.7G>A	1.37:g.24746044G>A	ENSP00000363520:p.Gly3Arg					NIPAL3_ENST00000488155.1_3'UTR|NIPAL3_ENST00000374399.4_Missense_Mutation_p.G3R|NIPAL3_ENST00000003912.3_5'UTR|NIPAL3_ENST00000339255.2_Missense_Mutation_p.G3R|NIPAL3_ENST00000428131.1_Missense_Mutation_p.G3R	p.G3R			Q6P499	NPAL3_HUMAN			2	356	+			3					A2A298|Q6MZT9|Q9BVE6	Missense_Mutation	SNP	ENST00000374399.4	37	c.7G>A	CCDS30631.1	.	.	.	.	.	.	.	.	.	.	G	12.27	1.886654	0.33348	.	.	ENSG00000001461	ENST00000374399;ENST00000358028;ENST00000339255;ENST00000428131	D;D;D;D	0.94828	-2.79;-3.53;-2.81;-3.53	5.12	2.24	0.28232	.	0.403752	0.23799	N	0.044447	D	0.90844	0.7124	M	0.63428	1.95	0.09310	N	1	B;B;B	0.19073	0.014;0.003;0.033	B;B;B	0.12837	0.006;0.002;0.008	T	0.82940	-0.0208	10	0.54805	T	0.06	-0.104	4.8999	0.13769	0.1909:0.1904:0.6186:0.0	.	3;3;3	Q6P499-3;Q6P499;A6NN97	.;NPAL3_HUMAN;.	R	3	ENSP00000363520:G3R;ENSP00000350722:G3R;ENSP00000343549:G3R;ENSP00000406509:G3R	ENSP00000343549:G3R	G	+	1	0	NIPAL3	24618631	0.115000	0.22152	0.024000	0.17045	0.041000	0.13682	0.402000	0.20965	0.316000	0.23135	0.655000	0.94253	GGA		0.627	NIPAL3-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276996.1	NM_020448		4	17	0	0	0	1	0	4	17					A	24746044	G	A	24746044	3	1	435	1	0	0	0	0	1	0	0	0	10426	1117	39	2	9	2	NIPAL3	1	24746044	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	72052	24746044	224504577	171	21096											
NIPAL3	57185	broad.mit.edu	37	chr1	24768584	24768584	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tggcaggctccaaggatcccCgggcctatttcaagaccaag	10	7	11	13	1	1	1	1	0	0	1	3	2	3	2	5	4	0	2	5	4	4	2	rs371884984		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:24768584C>T	ENST00000374399.4	+	4	570	c.202C>T	c.(202-204)Cgg>Tgg	p.R68W	NIPAL3_ENST00000339255.2_Missense_Mutation_p.R68W|NIPAL3_ENST00000358028.4_Missense_Mutation_p.R68W|NIPAL3_ENST00000003912.3_5'UTR|NIPAL3_ENST00000428131.1_Missense_Mutation_p.R68W	NM_020448.4	NP_065181.1	Q6P499	NPAL3_HUMAN	NIPA-like domain containing 3	68						integral component of membrane (GO:0016021)	magnesium ion transmembrane transporter activity (GO:0015095)			endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|skin(1)	14						CAAGGATCCCCGGGCCTATTT	0.537																																						ENST00000358028.4																			0				endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|skin(1)	14						c.(202-204)Cgg>Tgg		NIPA-like domain containing 3		C	TRP/ARG	0,4406		0,0,2203	98	92	94		202	5.2	1	1		94	1,8599		0,1,4299	no	missense	NIPAL3	NM_020448.4	101	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	68/407	24768584	1,13005	2203	4300	6503	SO:0001583	missense	57185					integral to membrane		g.chr1:24768584C>T	BX640883	CCDS30631.1	1p36.12-p35.1	2009-03-24		2009-03-24	ENSG00000001461	ENSG00000001461			25233	protein-coding gene	gene with protein product				NPAL3		8619474, 9110174	Standard	NM_020448		Approved	DJ462O23.2	uc001bjh.3	Q6P499	OTTHUMG00000003299	ENST00000374399.4:c.202C>T	1.37:g.24768584C>T	ENSP00000363520:p.Arg68Trp					NIPAL3_ENST00000374399.4_Missense_Mutation_p.R68W|NIPAL3_ENST00000003912.3_5'UTR|NIPAL3_ENST00000339255.2_Missense_Mutation_p.R68W|NIPAL3_ENST00000428131.1_Missense_Mutation_p.R68W	p.R68W			Q6P499	NPAL3_HUMAN			4	551	+			68					A2A298|Q6MZT9|Q9BVE6	Missense_Mutation	SNP	ENST00000374399.4	37	c.202C>T	CCDS30631.1	.	.	.	.	.	.	.	.	.	.	C	25.9	4.682110	0.88542	0.0	1.16E-4	ENSG00000001461	ENST00000374399;ENST00000358028;ENST00000339255;ENST00000428131	D;D;D;D	0.90261	-2.64;-2.64;-2.64;-2.64	5.22	5.22	0.72569	.	0.000000	0.85682	D	0.000000	D	0.95661	0.8589	M	0.82323	2.585	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.997;1.0;1.0	D	0.95119	0.8245	10	0.45353	T	0.12	-24.6994	19.1495	0.93482	0.0:1.0:0.0:0.0	.	68;68;68	Q6P499-3;Q6P499;A6NN97	.;NPAL3_HUMAN;.	W	68	ENSP00000363520:R68W;ENSP00000350722:R68W;ENSP00000343549:R68W;ENSP00000406509:R68W	ENSP00000343549:R68W	R	+	1	2	NIPAL3	24641171	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.128000	0.64733	2.579000	0.87056	0.655000	0.94253	CGG		0.537	NIPAL3-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276996.1	NM_020448		22	20	0	0	0	1	0	22	20					T	24768584	C	T	24768584	3	4	435	1	0	0	0	0	1	0	0	0	10426	643	23	2	212	2	NIPAL3	1	24768584	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	22540	24768584	224482037	172	21097											
RCAN3	11123	broad.mit.edu	37	chr1	24861637	24861637	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacacccagcgtggtggttcAtgtctgtgaaagtgaaactg	10	10	13	8	1	2	2	1	2	1	0	2	3	2	2	1	2	2	1	1	2	2	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:24861637A>G	ENST00000374395.4	+	5	909	c.596A>G	c.(595-597)cAt>cGt	p.H199R	RCAN3_ENST00000436717.2_Missense_Mutation_p.H189R|RCAN3_ENST00000538532.1_Missense_Mutation_p.H141R|RCAN3_ENST00000374393.2_Missense_Mutation_p.M84V|RCAN3_ENST00000412742.2_Missense_Mutation_p.M142V	NM_001251978.1|NM_001251979.1|NM_001251984.1	NP_001238907.1|NP_001238908.1|NP_001238913.1	Q9UKA8	RCAN3_HUMAN	RCAN family member 3	199					anatomical structure morphogenesis (GO:0009653)|calcium-mediated signaling (GO:0019722)		RNA binding (GO:0003723)|troponin I binding (GO:0031013)			central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)	7		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00125)|Ovarian(437;0.00473)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0427)|OV - Ovarian serous cystadenocarcinoma(117;1.13e-24)|Colorectal(126;6.09e-08)|COAD - Colon adenocarcinoma(152;3.33e-06)|GBM - Glioblastoma multiforme(114;0.000923)|BRCA - Breast invasive adenocarcinoma(304;0.0018)|KIRC - Kidney renal clear cell carcinoma(1967;0.00359)|STAD - Stomach adenocarcinoma(196;0.00493)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.14)		GTGGTGGTTCATGTCTGTGAA	0.498																																						ENST00000374395.4																			0				central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)	7						c.(595-597)cAt>cGt		RCAN family member 3							47	49	49					1																	24861637		2203	4300	6503	SO:0001583	missense	11123				anatomical structure morphogenesis|calcium-mediated signaling		nucleotide binding|RNA binding|troponin I binding	g.chr1:24861637A>G		CCDS254.1, CCDS57980.1, CCDS57981.1, CCDS57982.1, CCDS72730.1	1p35.3-p33	2008-02-05	2007-06-26	2007-06-26	ENSG00000117602	ENSG00000117602			3042	protein-coding gene	gene with protein product		605860	"Down syndrome critical region gene 1-like 2"	DSCR1L2		10756093	Standard	NM_001251984		Approved		uc001bjj.3	Q9UKA8	OTTHUMG00000003298	ENST00000374395.4:c.596A>G	1.37:g.24861637A>G	ENSP00000363516:p.His199Arg					RCAN3_ENST00000374393.2_Missense_Mutation_p.M84V|RCAN3_ENST00000538532.1_Missense_Mutation_p.H141R|RCAN3_ENST00000436717.2_Missense_Mutation_p.H189R|RCAN3_ENST00000412742.2_Missense_Mutation_p.M142V	p.H199R	NM_001251978.1|NM_001251979.1|NM_001251984.1	NP_001238907.1|NP_001238908.1|NP_001238913.1	Q9UKA8	RCAN3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0427)|OV - Ovarian serous cystadenocarcinoma(117;1.13e-24)|Colorectal(126;6.09e-08)|COAD - Colon adenocarcinoma(152;3.33e-06)|GBM - Glioblastoma multiforme(114;0.000923)|BRCA - Breast invasive adenocarcinoma(304;0.0018)|KIRC - Kidney renal clear cell carcinoma(1967;0.00359)|STAD - Stomach adenocarcinoma(196;0.00493)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.14)	5	909	+		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00125)|Ovarian(437;0.00473)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)	199					A4GU14|A4LA69|E3VWE2|E5L4P0|E5L4P7|E7ENV1|E7EWD8|G1FI66|G1FLF0|Q5ECL3|Q5TGC6|Q9NUC8|Q9UKA7	Missense_Mutation	SNP	ENST00000374395.4	37	c.596A>G	CCDS254.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	23.6|23.6	4.434843|4.434843	0.83885|0.83885	.|.	.|.	ENSG00000117602|ENSG00000117602	ENST00000374395;ENST00000436717;ENST00000538532|ENST00000412742;ENST00000374393	T;T;T|.	0.49432|.	0.78;0.79;0.79|.	5.45|5.45	5.45|5.45	0.79879|0.79879	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.67627|0.67627	0.2913|0.2913	M|M	0.90483|0.90483	3.12|3.12	0.29672|0.29672	N|N	0.842366|0.842366	D;D;D|B;B	0.89917|0.19706	0.996;1.0;1.0|0.038;0.009	D;D;D|B;B	0.91635|0.18561	0.969;0.999;0.998|0.022;0.01	T|T	0.68006|0.68006	-0.5523|-0.5523	10|8	0.72032|0.87932	D|D	0.01|0	-8.917|-8.917	15.8133|15.8133	0.78581|0.78581	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	141;189;199|84;142	A4GU14;Q9UKA8-2;Q9UKA8|E7EWD8;E7ENV1	.;.;RCAN3_HUMAN|.;.	R|V	199;189;141|142;84	ENSP00000363516:H199R;ENSP00000414447:H189R;ENSP00000445401:H141R|.	ENSP00000363516:H199R|ENSP00000363514:M84V	H|M	+|+	2|1	0|0	RCAN3|RCAN3	24734224|24734224	1.000000|1.000000	0.71417|0.71417	0.301000|0.301000	0.25044|0.25044	0.986000|0.986000	0.74619|0.74619	8.910000|8.910000	0.92685|0.92685	2.190000|2.190000	0.69967|0.69967	0.482000|0.482000	0.46254|0.46254	CAT|ATG		0.498	RCAN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009176.2			4	30	0	0	0	1	0	4	30					G	24861637	A	G	24861637	3	3	435	1	0	0	0	0	1	0	0	0	13170	217	8	4	610	4	RCAN3	1	24861637	Missense_Mutation	SNP	A	TCGA-XK-AAIW-01A-11D-A41K-08	93053	24861637	224388984	173	21098											
SEPN1	57190	broad.mit.edu	37	chr1	26135154	26135154	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttgccacccgccacttccaGcccttccttcccccgccagg	4	9	6	22	2	0	0	0	0	0	0	3	0	3	0	9	1	2	0	9	1	0	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:26135154G>A	ENST00000374315.1	+	4	557	c.519G>A	c.(517-519)caG>caA	p.Q173Q	SEPN1_ENST00000354177.4_Silent_p.Q173Q|SEPN1_ENST00000361547.2_Silent_p.Q207Q	NM_206926.1	NP_996809.1	Q9NZV5	SELN_HUMAN	selenoprotein N, 1	207						endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)	calcium ion binding (GO:0005509)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	19		Colorectal(325;3.46e-05)|Lung NSC(340;0.00038)|all_lung(284;0.00051)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0505)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0421)|OV - Ovarian serous cystadenocarcinoma(117;1.26e-25)|Colorectal(126;3.01e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|BRCA - Breast invasive adenocarcinoma(304;0.00099)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0143)|READ - Rectum adenocarcinoma(331;0.0649)		GCCACTTCCAGCCCTTCCTTC	0.657																																						ENST00000361547.2																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	19						c.(619-621)caG>caA		selenoprotein N, 1							68	81	77					1																	26135154		2063	4195	6258	SO:0001819	synonymous_variant	57190					endoplasmic reticulum membrane|extracellular region	protein binding	g.chr1:26135154G>A	AF166125	CCDS41282.1, CCDS41283.1	1p36.13	2014-09-17	2004-02-13		ENSG00000162430	ENSG00000162430		"EF-hand domain containing"	15999	protein-coding gene	gene with protein product		606210	"rigid spine muscular dystrophy 1"	RSMD1, MDRS1		10608886	Standard	NM_020451		Approved	selN, RSS	uc021ojl.1	Q9NZV5	OTTHUMG00000007375	ENST00000374315.1:c.519G>A	1.37:g.26135154G>A						SEPN1_ENST00000354177.4_Silent_p.Q173Q|SEPN1_ENST00000374315.1_Silent_p.Q173Q	p.Q207Q	NM_020451.2	NP_065184.2	Q9NZV5	SELN_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0421)|OV - Ovarian serous cystadenocarcinoma(117;1.26e-25)|Colorectal(126;3.01e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|BRCA - Breast invasive adenocarcinoma(304;0.00099)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0143)|READ - Rectum adenocarcinoma(331;0.0649)	5	676	+		Colorectal(325;3.46e-05)|Lung NSC(340;0.00038)|all_lung(284;0.00051)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0505)	207					A6NJG8|A8MQ64|Q6PI70|Q969F6|Q9NUI6	Silent	SNP	ENST00000374315.1	37	c.621G>A	CCDS41283.1																																																																																				0.657	SEPN1-002	KNOWN	basic|appris_candidate_longest|CCDS|seleno	protein_coding	protein_coding	OTTHUMT00000019315.2	NM_020451		19	33	0	0	0	1	0	19	33					A	26135154	G	A	26135154	2	1	435	1	0	0	0	0	0	0	0	1	14056	962	34	3		3	SEPN1	1	26135154	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	1273517	26135154	223115467	174	21099											
SEPN1	57190	broad.mit.edu	37	chr1	26135571	26135571	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcggccctttgtgaagaccCgctttgcccctcagggagct	5	10	11	15	2	1	2	1	1	0	1	2	3	1	3	4	2	2	2	4	2	1	2	rs368074297		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:26135571C>T	ENST00000374315.1	+	5	738	c.700C>T	c.(700-702)Cgc>Tgc	p.R234C	SEPN1_ENST00000354177.4_Missense_Mutation_p.R234C|SEPN1_ENST00000361547.2_Missense_Mutation_p.R268C	NM_206926.1	NP_996809.1	Q9NZV5	SELN_HUMAN	selenoprotein N, 1	268						endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)	calcium ion binding (GO:0005509)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	19		Colorectal(325;3.46e-05)|Lung NSC(340;0.00038)|all_lung(284;0.00051)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0505)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0421)|OV - Ovarian serous cystadenocarcinoma(117;1.26e-25)|Colorectal(126;3.01e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|BRCA - Breast invasive adenocarcinoma(304;0.00099)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0143)|READ - Rectum adenocarcinoma(331;0.0649)		TGTGAAGACCCGCTTTGCCCC	0.647																																						ENST00000361547.2																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	19						c.(802-804)Cgc>Tgc		selenoprotein N, 1		C	CYS/ARG,CYS/ARG	0,4106		0,0,2053	73	80	78		802,700	5.7	1	1		78	1,8373		0,1,4186	no	missense,missense	SEPN1	NM_020451.2,NM_206926.1	180,180	0,1,6239	TT,TC,CC		0.0119,0.0,0.0080	probably-damaging,probably-damaging	268/591,234/557	26135571	1,12479	2053	4187	6240	SO:0001583	missense	57190					endoplasmic reticulum membrane|extracellular region	protein binding	g.chr1:26135571C>T	AF166125	CCDS41282.1, CCDS41283.1	1p36.13	2014-09-17	2004-02-13		ENSG00000162430	ENSG00000162430		"EF-hand domain containing"	15999	protein-coding gene	gene with protein product		606210	"rigid spine muscular dystrophy 1"	RSMD1, MDRS1		10608886	Standard	NM_020451		Approved	selN, RSS	uc021ojl.1	Q9NZV5	OTTHUMG00000007375	ENST00000374315.1:c.700C>T	1.37:g.26135571C>T	ENSP00000363434:p.Arg234Cys					SEPN1_ENST00000354177.4_Missense_Mutation_p.R234C|SEPN1_ENST00000374315.1_Missense_Mutation_p.R234C	p.R268C	NM_020451.2	NP_065184.2	Q9NZV5	SELN_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0421)|OV - Ovarian serous cystadenocarcinoma(117;1.26e-25)|Colorectal(126;3.01e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|BRCA - Breast invasive adenocarcinoma(304;0.00099)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0143)|READ - Rectum adenocarcinoma(331;0.0649)	6	857	+		Colorectal(325;3.46e-05)|Lung NSC(340;0.00038)|all_lung(284;0.00051)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0505)	268					A6NJG8|A8MQ64|Q6PI70|Q969F6|Q9NUI6	Missense_Mutation	SNP	ENST00000374315.1	37	c.802C>T	CCDS41283.1	.	.	.	.	.	.	.	.	.	.	C	36	5.803731	0.96967	0.0	1.19E-4	ENSG00000162430	ENST00000361547;ENST00000354177;ENST00000374315	D;D;D	0.94828	-3.5;-3.53;-3.52	5.68	5.68	0.88126	.	0.000000	0.85682	D	0.000000	D	0.97084	0.9047	M	0.72894	2.215	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.80764	0.994;0.987	D	0.97292	0.9925	10	0.87932	D	0	-29.0139	19.7891	0.96450	0.0:1.0:0.0:0.0	.	234;268	Q9NZV5-2;Q9NZV5	.;SELN_HUMAN	C	268;234;234	ENSP00000355141:R268C;ENSP00000346109:R234C;ENSP00000363434:R234C	ENSP00000346109:R234C	R	+	1	0	SEPN1	26008158	0.998000	0.40836	1.000000	0.80357	0.995000	0.86356	3.798000	0.55522	2.692000	0.91855	0.561000	0.74099	CGC		0.647	SEPN1-002	KNOWN	basic|appris_candidate_longest|CCDS|seleno	protein_coding	protein_coding	OTTHUMT00000019315.2	NM_020451		30	51	0	0	0	1	0	30	51					T	26135571	C	T	26135571	3	4	435	1	0	0	0	0	1	0	0	0	14056	652	23	2	824	2	SEPN1	1	26135571	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	417	26135571	223115050	175	21100											
EXTL1	2134	broad.mit.edu	37	chr1	26361404	26361404	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaggcacccacctgtgtggAcgtcctgatgaatttcatag	9	11	11	10	1	1	3	1	3	0	0	2	4	2	4	3	2	0	1	3	2	2	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:26361404A>G	ENST00000374280.3	+	10	2624	c.1757A>G	c.(1756-1758)gAc>gGc	p.D586G		NM_004455.2	NP_004446.2	Q92935	EXTL1_HUMAN	exostosin-like glycosyltransferase 1	586					protein glycosylation (GO:0006486)|skeletal system development (GO:0001501)	integral component of membrane (GO:0016021)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity (GO:0050508)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|stomach(1)|urinary_tract(1)	23		Colorectal(325;3.46e-05)|Lung NSC(340;6.18e-05)|all_lung(284;9.43e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;6.44e-26)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|BRCA - Breast invasive adenocarcinoma(304;0.000954)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00594)|READ - Rectum adenocarcinoma(331;0.0649)		ACCTGTGTGGACGTCCTGATG	0.582																																						ENST00000374280.3																			0				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|stomach(1)|urinary_tract(1)	23						c.(1756-1758)gAc>gGc		exostosin-like glycosyltransferase 1							161	162	161					1																	26361404		2203	4300	6503	SO:0001583	missense	2134				skeletal system development	integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|protein binding	g.chr1:26361404A>G	U67191	CCDS271.1	1p36.1	2013-03-01	2013-03-01		ENSG00000158008	ENSG00000158008	2.4.1.224	"Exostosin glycosyltransferase family"	3515	protein-coding gene	gene with protein product	"glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N- acetylglucosaminyltransferase", "alpha-N-acetylglucosaminyltransferase II", "glucuronyl-N-acetylglucosaminylproteoglycan alpha-1,4-N- acetylglucosaminyltransferase", "exostosin-L"	601738	"exostoses (multiple)-like 1"			9037597	Standard	NM_004455		Approved	EXTL, MGC70794	uc001blf.3	Q92935	OTTHUMG00000007509	ENST00000374280.3:c.1757A>G	1.37:g.26361404A>G	ENSP00000363398:p.Asp586Gly						p.D586G	NM_004455.2	NP_004446.2	Q92935	EXTL1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;6.44e-26)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|BRCA - Breast invasive adenocarcinoma(304;0.000954)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00594)|READ - Rectum adenocarcinoma(331;0.0649)	10	2624	+		Colorectal(325;3.46e-05)|Lung NSC(340;6.18e-05)|all_lung(284;9.43e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)	586					Q6GSC1	Missense_Mutation	SNP	ENST00000374280.3	37	c.1757A>G	CCDS271.1	.	.	.	.	.	.	.	.	.	.	A	34	5.359145	0.95854	.	.	ENSG00000158008	ENST00000374280	D	0.92199	-2.99	4.84	4.84	0.62591	EXTL2, alpha-1,4-N-acetylhexosaminyltransferase (1);	0.062155	0.64402	D	0.000009	D	0.96574	0.8882	M	0.90922	3.16	0.80722	D	1	D	0.76494	0.999	D	0.77557	0.99	D	0.97346	0.9960	10	0.87932	D	0	-13.7327	13.536	0.61646	1.0:0.0:0.0:0.0	.	586	Q92935	EXTL1_HUMAN	G	586	ENSP00000363398:D586G	ENSP00000363398:D586G	D	+	2	0	EXTL1	26233991	1.000000	0.71417	0.903000	0.35520	0.985000	0.73830	7.212000	0.77941	2.039000	0.60335	0.379000	0.24179	GAC		0.582	EXTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019749.1	NM_004455		54	86	0	0	0	1	0	54	86					G	26361404	A	G	26361404	3	3	435	1	0	0	0	0	1	0	0	0	5325	275	10	4	1795	4	EXTL1	1	26361404	Missense_Mutation	SNP	A	TCGA-XK-AAIW-01A-11D-A41K-08	225833	26361404	222889217	176	21101											
PDIK1L	149420	broad.mit.edu	37	chr1	26448718	26448718	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gtggaacagatttttacatgGctcctgaagtttgggaagga	11	12	13	5	0	0	2	0	1	0	1	1	5	1	5	1	4	2	2	1	4	4	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:26448718G>A	ENST00000374271.4	+	4	963	c.676G>A	c.(676-678)Gct>Act	p.A226T	PDIK1L_ENST00000374269.1_Missense_Mutation_p.A226T	NM_001243532.1|NM_001243533.1|NM_152835.4	NP_001230461.1|NP_001230462.1|NP_690048.1	Q8N165	PDK1L_HUMAN	PDLIM1 interacting kinase 1 like	226	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.					nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	7		Colorectal(325;0.000147)|Renal(390;0.00211)|Lung NSC(340;0.00239)|all_lung(284;0.00366)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0589)|all_neural(195;0.0687)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;7.32e-26)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000735)|BRCA - Breast invasive adenocarcinoma(304;0.000973)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.015)|READ - Rectum adenocarcinoma(331;0.0649)		TTTTTACATGGCTCCTGAAGT	0.438																																						ENST00000374271.4																			0				large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	7						c.(676-678)Gct>Act		PDLIM1 interacting kinase 1 like							65	61	62					1																	26448718		2203	4300	6503	SO:0001583	missense	149420					nucleus	ATP binding|protein serine/threonine kinase activity	g.chr1:26448718G>A	AF411102	CCDS274.1	1p35.1	2008-02-05			ENSG00000175087	ENSG00000175087			18981	protein-coding gene	gene with protein product		610785				14631099	Standard	NM_152835		Approved	CLIK1L	uc009vsb.3	Q8N165	OTTHUMG00000007511	ENST00000374271.4:c.676G>A	1.37:g.26448718G>A	ENSP00000363389:p.Ala226Thr					PDIK1L_ENST00000374269.1_Missense_Mutation_p.A226T	p.A226T	NM_001243532.1|NM_001243533.1|NM_152835.4	NP_001230461.1|NP_001230462.1|NP_690048.1	Q8N165	PDK1L_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;7.32e-26)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000735)|BRCA - Breast invasive adenocarcinoma(304;0.000973)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.015)|READ - Rectum adenocarcinoma(331;0.0649)	4	963	+		Colorectal(325;0.000147)|Renal(390;0.00211)|Lung NSC(340;0.00239)|all_lung(284;0.00366)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0589)|all_neural(195;0.0687)	226			Protein kinase.		B2R777|D3DPK2|Q5T2I0|Q8NDB3	Missense_Mutation	SNP	ENST00000374271.4	37	c.676G>A	CCDS274.1	.	.	.	.	.	.	.	.	.	.	G	25.8	4.675356	0.88445	.	.	ENSG00000175087	ENST00000374271;ENST00000374269	T;T	0.51325	0.71;0.71	5.81	5.81	0.92471	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.78502	0.4293	M	0.93939	3.475	0.54753	D	0.999989	D	0.89917	1.0	D	0.91635	0.999	D	0.83471	0.0059	9	.	.	.	-13.9668	19.6725	0.95915	0.0:0.0:1.0:0.0	.	226	Q8N165	PDK1L_HUMAN	T	226	ENSP00000363389:A226T;ENSP00000363387:A226T	.	A	+	1	0	PDIK1L	26321305	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.750000	0.94351	0.655000	0.94253	GCT		0.438	PDIK1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019752.1	NM_152835		26	30	0	0	0	1	0	26	30					A	26448718	G	A	26448718	3	1	435	1	0	0	0	0	1	0	0	0	11673	1203	42	3	682	3	PDIK1L	1	26448718	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	87314	26448718	222801903	177	21102											
CNKSR1	10256	broad.mit.edu	37	chr1	26510233	26510233	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cccccaggtgggatggccccGtaagaacatggtgagggaac	10	5	15	11	1	0	2	0	1	0	1	0	4	0	4	4	5	2	1	4	5	3	1	rs139571283		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:26510233G>A	ENST00000374253.5	+	9	827	c.788G>A	c.(787-789)cGt>cAt	p.R263H	CNKSR1_ENST00000531191.1_5'UTR|CNKSR1_ENST00000361530.6_Missense_Mutation_p.R256H	NM_006314.2	NP_006305.2	Q969H4	CNKR1_HUMAN	connector enhancer of kinase suppressor of Ras 1	263	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				Ras protein signal transduction (GO:0007265)|Rho protein signal transduction (GO:0007266)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell cortex (GO:0005938)|cell-cell junction (GO:0005911)|plasma membrane (GO:0005886)	protein binding, bridging (GO:0030674)			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	28		Colorectal(325;3.46e-05)|all_lung(284;0.000116)|Lung NSC(340;0.000154)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0133)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;2.72e-26)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00072)|BRCA - Breast invasive adenocarcinoma(304;0.000959)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00823)|READ - Rectum adenocarcinoma(331;0.0649)		GGATGGCCCCGTAAGAACATG	0.602																																					NSCLC(180;1396 2109 28270 30756 34275)	ENST00000361530.6																			0				breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	28						c.(766-768)cGt>cAt		connector enhancer of kinase suppressor of Ras 1		G	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	80	82	82		767	-0.1	0.6	1	dbSNP_134	82	0,8600		0,0,4300	no	missense	CNKSR1	NM_006314.2	29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	256/714	26510233	1,13005	2203	4300	6503	SO:0001583	missense	10256				Rho protein signal transduction|transmembrane receptor protein tyrosine kinase signaling pathway	cell cortex|cell-cell junction	protein binding, bridging	g.chr1:26510233G>A	AF100153	CCDS276.1, CCDS72732.1	1p35.3	2013-01-10			ENSG00000142675	ENSG00000142675		"Sterile alpha motif (SAM) domain containing", "Pleckstrin homology (PH) domain containing"	19700	protein-coding gene	gene with protein product		603272				9814705	Standard	NM_006314		Approved	CNK1, KSR, CNK	uc001blm.4	Q969H4	OTTHUMG00000007541	ENST00000374253.5:c.788G>A	1.37:g.26510233G>A	ENSP00000363371:p.Arg263His					CNKSR1_ENST00000531191.1_5'UTR|CNKSR1_ENST00000374253.5_Missense_Mutation_p.R263H	p.R256H			Q969H4	CNKR1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;2.72e-26)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00072)|BRCA - Breast invasive adenocarcinoma(304;0.000959)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00823)|READ - Rectum adenocarcinoma(331;0.0649)	9	912	+		Colorectal(325;3.46e-05)|all_lung(284;0.000116)|Lung NSC(340;0.000154)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0133)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)	263			PDZ.		B1AMW9|O95381	Missense_Mutation	SNP	ENST00000374253.5	37	c.767G>A		.	.	.	.	.	.	.	.	.	.	G	5.242	0.230032	0.09969	2.27E-4	0.0	ENSG00000142675	ENST00000361530;ENST00000374253	T;T	0.14516	2.5;2.51	4.87	-0.0881	0.13674	PDZ/DHR/GLGF (1);	0.421211	0.23854	N	0.043914	T	0.03390	0.0098	N	0.01352	-0.895	0.38244	D	0.941408	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.40905	-0.9538	10	0.21014	T	0.42	-6.1596	5.6172	0.17438	0.3542:0.1796:0.4662:0.0	.	263;256	Q969H4;Q53GM7	CNKR1_HUMAN;.	H	256;263	ENSP00000354609:R256H;ENSP00000363371:R263H	ENSP00000354609:R256H	R	+	2	0	CNKSR1	26382820	0.003000	0.15002	0.649000	0.29536	0.002000	0.02628	0.661000	0.25023	0.068000	0.16574	-0.946000	0.02672	CGT		0.602	CNKSR1-007	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000089943.2	NM_006314		29	35	0	0	0	1	0	29	35					A	26510233	G	A	26510233	3	1	435	1	0	0	0	0	1	0	0	0	3606	1145	40	1	801	1	CNKSR1	1	26510233	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	61515	26510233	222740388	178	21103											
CATSPER4	378807	broad.mit.edu	37	chr1	26524256	26524256	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	taatgaaatcaatattccctCcatcaactacactctcaggt	14	12	3	12	0	3	1	3	1	1	0	6	1	5	1	2	1	2	0	2	1	6	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:26524256C>A	ENST00000456354.2	+	4	606	c.539C>A	c.(538-540)tCc>tAc	p.S180Y		NM_198137.1	NP_937770.1	Q7RTX7	CTSR4_HUMAN	cation channel, sperm associated 4	180					calcium ion import (GO:0070509)|membrane depolarization during action potential (GO:0086010)|multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|single fertilization (GO:0007338)|sodium ion transport (GO:0006814)|sperm capacitation (GO:0048240)|sperm motility (GO:0030317)|sperm-egg recognition (GO:0035036)	acrosomal vesicle (GO:0001669)|CatSper complex (GO:0036128)|plasma membrane (GO:0005886)|sperm principal piece (GO:0097228)	calcium activated cation channel activity (GO:0005227)|voltage-gated calcium channel activity (GO:0005245)			NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(2)	27		all_cancers(24;2.05e-18)|Colorectal(325;0.000147)|Renal(390;0.00211)|all_lung(284;0.00218)|Lung NSC(340;0.00239)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0589)|all_neural(195;0.0687)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;3.52e-26)|Colorectal(126;1.34e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000755)|BRCA - Breast invasive adenocarcinoma(304;0.000995)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00878)|READ - Rectum adenocarcinoma(331;0.0649)		AATATTCCCTCCATCAACTAC	0.512																																						ENST00000456354.2																			0				NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(2)	27						c.(538-540)tCc>tAc		cation channel, sperm associated 4							84	75	78					1																	26524256		2203	4300	6503	SO:0001583	missense	378807				cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	calcium channel activity|voltage-gated ion channel activity	g.chr1:26524256C>A	BN000273	CCDS30645.1	1p35.3	2011-07-05			ENSG00000188782	ENSG00000188782		"Voltage-gated ion channels / Cation channels, sperm associated"	23220	protein-coding gene	gene with protein product		609121				12932298, 17227845, 16382101	Standard	NM_198137		Approved		uc010oez.2	Q7RTX7	OTTHUMG00000003383	ENST00000456354.2:c.539C>A	1.37:g.26524256C>A	ENSP00000390423:p.Ser180Tyr						p.S180Y	NM_198137.1	NP_937770.1	Q7RTX7	CTSR4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;3.52e-26)|Colorectal(126;1.34e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000755)|BRCA - Breast invasive adenocarcinoma(304;0.000995)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00878)|READ - Rectum adenocarcinoma(331;0.0649)	4	606	+		all_cancers(24;2.05e-18)|Colorectal(325;0.000147)|Renal(390;0.00211)|all_lung(284;0.00218)|Lung NSC(340;0.00239)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0589)|all_neural(195;0.0687)	180					A1A4W6|Q5VY71	Missense_Mutation	SNP	ENST00000456354.2	37	c.539C>A	CCDS30645.1	.	.	.	.	.	.	.	.	.	.	C	11.29	1.595019	0.28445	.	.	ENSG00000188782	ENST00000338855;ENST00000456354	D;D	0.97752	-4.52;-4.52	5.0	1.93	0.25924	Ion transport (1);	1.698090	0.03566	N	0.227824	D	0.95981	0.8691	L	0.45137	1.4	0.09310	N	1	P	0.46327	0.876	P	0.44597	0.454	D	0.89183	0.3545	10	0.66056	D	0.02	3.0339	5.1452	0.14981	0.0:0.6368:0.1702:0.193	.	180	Q7RTX7	CTSR4_HUMAN	Y	180	ENSP00000341006:S180Y;ENSP00000390423:S180Y	ENSP00000341006:S180Y	S	+	2	0	CATSPER4	26396843	0.000000	0.05858	0.025000	0.17156	0.013000	0.08279	0.360000	0.20250	0.099000	0.17552	0.563000	0.77884	TCC		0.512	CATSPER4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019849.2	NM_198137		19	29	1	0	2.39187e-15	1	2.6178e-15	19	29					A	26524256	C	A	26524256	3	1	435	1	0	0	0	0	1	0	0	0	2690	855	30	5	553	5	CATSPER4	1	26524256	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	14023	26524256	222726365	179	21104											
CCDC21	64793	broad.mit.edu	37	chr1	26582334	26582334	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcagcagctggaattgattcGtttacagatggagcaaatgc	12	10	12	7	1	0	2	0	1	0	1	1	4	0	4	0	2	5	5	0	2	3	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:26582334G>A	ENST00000252992.4	+	4	1012	c.881G>A	c.(880-882)cGt>cAt	p.R294H	CEP85_ENST00000451429.2_Missense_Mutation_p.R243H	NM_001281517.1|NM_022778.2	NP_001268446.1|NP_073615.2	Q6P2H3	CEP85_HUMAN	centrosomal protein 85kDa	294						centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|spindle pole (GO:0000922)				breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(11)|skin(2)	25						GAATTGATTCGTTTACAGATG	0.463																																						ENST00000252992.4																			0				breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(11)|skin(2)	25						c.(880-882)cGt>cAt		centrosomal protein 85kDa							62	63	63					1																	26582334		2203	4300	6503	SO:0001583	missense	64793					centrosome|nucleolus|spindle pole		g.chr1:26582334G>A	AK024038	CCDS277.1, CCDS60038.1	1p36.11	2014-02-20	2011-05-06	2011-05-06	ENSG00000130695	ENSG00000130695			25309	protein-coding gene	gene with protein product			"coiled-coil domain containing 21"	CCDC21		12477932	Standard	NM_022778		Approved	DKFZP434L0117	uc001bls.1	Q6P2H3	OTTHUMG00000003380	ENST00000252992.4:c.881G>A	1.37:g.26582334G>A	ENSP00000252992:p.Arg294His					CEP85_ENST00000451429.2_Missense_Mutation_p.R243H	p.R294H	NM_022778.2	NP_073615.2	Q6P2H3	CEP85_HUMAN			4	1012	+			294					B4DRL1|D3DPK4|F8W7K4|Q5VY68|Q5VY70|Q9H6Q1|Q9H828|Q9UF52	Missense_Mutation	SNP	ENST00000252992.4	37	c.881G>A	CCDS277.1	.	.	.	.	.	.	.	.	.	.	G	27.2	4.811475	0.90707	.	.	ENSG00000130695	ENST00000451429;ENST00000252992	T;T	0.11821	2.74;2.74	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	T	0.38931	0.1059	M	0.66939	2.045	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	T	0.03335	-1.1047	10	0.87932	D	0	-10.7327	18.5737	0.91147	0.0:0.0:1.0:0.0	.	243;294;294	F8W7K4;Q6P2H3;Q6P2H3-2	.;CEP85_HUMAN;.	H	243;294	ENSP00000417002:R243H;ENSP00000252992:R294H	ENSP00000252992:R294H	R	+	2	0	CEP85	26454921	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.605000	0.90883	2.824000	0.97209	0.655000	0.94253	CGT		0.463	CEP85-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009492.2	NM_022778		23	29	0	0	0	1	0	23	29					A	26582334	G	A	26582334	3	1	435	1	0	0	0	0	1	0	0	0	2796	1145	40	1	891	1	CCDC21	1	26582334	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	58078	26582334	222668287	180	21105											
CCDC21	64793	broad.mit.edu	37	chr1	26603704	26603704	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tagaagaggttcaacagctgCgtcgtgacattgaggactta	12	10	12	7	2	1	4	1	2	0	2	2	5	1	5	0	2	3	2	0	2	4	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:26603704C>T	ENST00000252992.4	+	14	2340	c.2209C>T	c.(2209-2211)Cgt>Tgt	p.R737C	CEP85_ENST00000469609.1_3'UTR|SH3BGRL3_ENST00000270792.5_5'Flank|SH3BGRL3_ENST00000319041.6_5'Flank|CEP85_ENST00000451429.2_Missense_Mutation_p.R686C	NM_001281517.1|NM_022778.2	NP_001268446.1|NP_073615.2	Q6P2H3	CEP85_HUMAN	centrosomal protein 85kDa	737						centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|spindle pole (GO:0000922)				breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(11)|skin(2)	25						TCAACAGCTGCGTCGTGACAT	0.502																																						ENST00000252992.4																			0				breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(11)|skin(2)	25						c.(2209-2211)Cgt>Tgt		centrosomal protein 85kDa							174	163	167					1																	26603704		2203	4300	6503	SO:0001583	missense	64793					centrosome|nucleolus|spindle pole		g.chr1:26603704C>T	AK024038	CCDS277.1, CCDS60038.1	1p36.11	2014-02-20	2011-05-06	2011-05-06	ENSG00000130695	ENSG00000130695			25309	protein-coding gene	gene with protein product			"coiled-coil domain containing 21"	CCDC21		12477932	Standard	NM_022778		Approved	DKFZP434L0117	uc001bls.1	Q6P2H3	OTTHUMG00000003380	ENST00000252992.4:c.2209C>T	1.37:g.26603704C>T	ENSP00000252992:p.Arg737Cys					CEP85_ENST00000469609.1_3'UTR|CEP85_ENST00000451429.2_Missense_Mutation_p.R686C	p.R737C	NM_022778.2	NP_073615.2	Q6P2H3	CEP85_HUMAN			14	2340	+			737					B4DRL1|D3DPK4|F8W7K4|Q5VY68|Q5VY70|Q9H6Q1|Q9H828|Q9UF52	Missense_Mutation	SNP	ENST00000252992.4	37	c.2209C>T	CCDS277.1	.	.	.	.	.	.	.	.	.	.	C	25.2	4.612309	0.87258	.	.	ENSG00000130695	ENST00000451429;ENST00000252992	T;T	0.27256	1.68;1.91	5.77	5.77	0.91146	.	0.190681	0.56097	D	0.000032	T	0.46541	0.1398	M	0.64404	1.975	0.80722	D	1	D;D;D	0.89917	1.0;0.998;0.996	D;P;P	0.64237	0.923;0.847;0.782	T	0.38650	-0.9651	10	0.87932	D	0	-9.1023	14.7938	0.69863	0.1442:0.8558:0.0:0.0	.	686;737;736	F8W7K4;Q6P2H3;Q6P2H3-2	.;CEP85_HUMAN;.	C	686;737	ENSP00000417002:R686C;ENSP00000252992:R737C	ENSP00000252992:R737C	R	+	1	0	CEP85	26476291	1.000000	0.71417	0.926000	0.36857	0.838000	0.47535	5.621000	0.67743	2.744000	0.94065	0.561000	0.74099	CGT		0.502	CEP85-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009492.2	NM_022778		42	63	0	0	0	1	0	42	63					T	26603704	C	T	26603704	3	4	435	1	0	0	0	0	1	0	0	0	2796	768	27	1	2259	1	CCDC21	1	26603704	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	21370	26603704	222646917	181	21106											
AIM1L	55057	broad.mit.edu	37	chr1	26658018	26658018	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agagcccaggactgtggaggCgaggcagcccatggccgtga	9	4	17	11	2	0	2	0	1	0	1	0	5	0	4	3	5	2	1	3	5	0	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:26658018C>T	ENST00000308182.5	-	14	1570	c.1141G>A	c.(1141-1143)Gcc>Acc	p.A381T	AIM1L_ENST00000527815.1_Missense_Mutation_p.A552T			Q8N1P7	AIM1L_HUMAN	absent in melanoma 1-like	381	Beta/gamma crystallin 'Greek key' 8. {ECO:0000255|PROSITE-ProRule:PRU00028}.						carbohydrate binding (GO:0030246)			endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|pancreas(1)|skin(2)	12		all_cancers(24;4.67e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.51e-27)|Colorectal(126;1.61e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000792)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|STAD - Stomach adenocarcinoma(196;0.00154)|GBM - Glioblastoma multiforme(114;0.00858)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.165)|LUSC - Lung squamous cell carcinoma(448;0.239)		ACTGTGGAGGCGAGGCAGCCC	0.572																																						ENST00000527815.1																			0				endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|pancreas(1)|skin(2)	12						c.(1654-1656)Gcc>Acc		absent in melanoma 1-like							97	85	89					1																	26658018		2203	4300	6503	SO:0001583	missense	55057						sugar binding	g.chr1:26658018C>T			1p35	2010-07-14			ENSG00000176092	ENSG00000176092			17295	protein-coding gene	gene with protein product	"beta-gamma crystallin domain containing 2"						Standard	NM_001039775		Approved	CRYBG2, FLJ38020	uc001bmd.4	Q8N1P7	OTTHUMG00000003490	ENST00000308182.5:c.1141G>A	1.37:g.26658018C>T	ENSP00000310435:p.Ala381Thr					AIM1L_ENST00000308182.5_Missense_Mutation_p.A381T	p.A552T	NM_001039775.3	NP_001034864.2	Q8N1P7	AIM1L_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.51e-27)|Colorectal(126;1.61e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000792)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|STAD - Stomach adenocarcinoma(196;0.00154)|GBM - Glioblastoma multiforme(114;0.00858)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.165)|LUSC - Lung squamous cell carcinoma(448;0.239)	14	1703	-		all_cancers(24;4.67e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	381			Ricin B-type lectin.		B2RNG3|Q5T137|Q5T150	Missense_Mutation	SNP	ENST00000308182.5	37	c.1654G>A		.	.	.	.	.	.	.	.	.	.	C	0.239	-1.015251	0.02078	.	.	ENSG00000176092	ENST00000527815;ENST00000308182	T;T	0.75821	-0.97;-0.97	5.66	1.53	0.23141	Beta/gamma crystallin (4);Gamma-crystallin-related (1);	0.409609	0.27451	N	0.019320	T	0.50051	0.1593	N	0.17379	0.485	0.25592	N	0.986683	B	0.14438	0.01	B	0.15870	0.014	T	0.22382	-1.0218	10	0.19147	T	0.46	.	3.8709	0.09036	0.4081:0.3547:0.0:0.2372	.	381	Q8N1P7	AIM1L_HUMAN	T	552;381	ENSP00000433931:A552T;ENSP00000310435:A381T	ENSP00000310435:A381T	A	-	1	0	AIM1L	26530605	0.026000	0.19158	0.316000	0.25252	0.297000	0.27493	-0.031000	0.12287	0.022000	0.15160	-0.216000	0.12614	GCC		0.572	AIM1L-201	KNOWN	basic	protein_coding	protein_coding		NM_001039775.2		7	27	0	0	0	1	0	7	27					T	26658018	C	T	26658018	3	4	435	1	0	0	0	0	1	0	0	0	431	768	27	1	733	1	AIM1L	1	26658018	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	54314	26658018	222592603	182	21107											
ZNF683	257101	broad.mit.edu	37	chr1	26688416	26688416	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggtggatgtgctgggtgaagCgactccggcagacactgcac	8	7	16	10	2	0	2	0	1	0	1	1	4	1	3	1	4	3	3	1	4	1	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:26688416C>T	ENST00000436292.1	-	7	1421	c.1301G>A	c.(1300-1302)cGc>cAc	p.R434H	ZNF683_ENST00000349618.3_Missense_Mutation_p.R414H|ZNF683_ENST00000374204.1_Missense_Mutation_p.R414H|ZNF683_ENST00000403843.1_Missense_Mutation_p.R434H			Q8IZ20	ZN683_HUMAN	zinc finger protein 683	434					natural killer cell differentiation (GO:0001779)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(1)	15		all_cancers(24;2.39e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.76e-26)|Colorectal(126;1.38e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|BRCA - Breast invasive adenocarcinoma(304;0.00099)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00793)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.159)|LUSC - Lung squamous cell carcinoma(448;0.233)		CTGGGTGAAGCGACTCCGGCA	0.667																																						ENST00000436292.1																			0				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(1)	15						c.(1300-1302)cGc>cAc		zinc finger protein 683							50	51	51					1																	26688416		2203	4300	6503	SO:0001583	missense	257101				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:26688416C>T	BC029505	CCDS279.2	1p36.11	2013-01-08			ENSG00000176083	ENSG00000176083		"Zinc fingers, C2H2-type"	28495	protein-coding gene	gene with protein product	"hypothetical protein MGC33414"					12477932	Standard	NM_173574		Approved	MGC33414	uc009vsj.1	Q8IZ20	OTTHUMG00000003521	ENST00000436292.1:c.1301G>A	1.37:g.26688416C>T	ENSP00000388792:p.Arg434His					ZNF683_ENST00000374204.1_Missense_Mutation_p.R414H|ZNF683_ENST00000349618.3_Missense_Mutation_p.R414H|ZNF683_ENST00000403843.1_Missense_Mutation_p.R434H	p.R434H			Q8IZ20	ZN683_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.76e-26)|Colorectal(126;1.38e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|BRCA - Breast invasive adenocarcinoma(304;0.00099)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00793)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.159)|LUSC - Lung squamous cell carcinoma(448;0.233)	7	1421	-		all_cancers(24;2.39e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	434					Q5T141|Q5T146|Q5T147|Q5T149|Q8NEN4	Missense_Mutation	SNP	ENST00000436292.1	37	c.1301G>A		.	.	.	.	.	.	.	.	.	.	C	11.55	1.671955	0.29693	.	.	ENSG00000176083	ENST00000403843;ENST00000436292;ENST00000374204;ENST00000349618	T;T;T;T	0.19938	2.11;2.11;2.11;2.11	3.96	0.959	0.19624	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.358492	0.20637	N	0.088466	T	0.12178	0.0296	L	0.35414	1.06	0.25889	N	0.983495	B;B	0.24368	0.083;0.102	B;B	0.27170	0.018;0.077	T	0.33059	-0.9883	10	0.12430	T	0.62	-19.1251	5.3566	0.16065	0.0:0.6258:0.1691:0.2051	.	414;434	Q8IZ20-2;Q8IZ20	.;ZN683_HUMAN	H	434;434;414;414	ENSP00000384782:R434H;ENSP00000388792:R434H;ENSP00000363320:R414H;ENSP00000344095:R414H	ENSP00000344095:R414H	R	-	2	0	ZNF683	26561003	0.973000	0.33851	0.094000	0.20943	0.627000	0.37826	0.139000	0.16036	0.213000	0.20722	-0.254000	0.11334	CGC		0.667	ZNF683-202	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000009794.2	NM_173574		22	32	0	0	0	1	0	22	32					T	26688416	C	T	26688416	3	4	435	1	0	0	0	0	1	0	0	0	18087	768	27	1	277	1	ZNF683	1	26688416	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	30398	26688416	222562205	183	21108											
ZNF683	257101	broad.mit.edu	37	chr1	26689533	26689533	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaccgagcacttgtggggcCgctccccagtgtgcaccagg	6	7	13	15	2	1	0	1	0	0	0	2	1	2	0	5	3	2	3	5	3	0	1	rs202155950	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:26689533C>T	ENST00000436292.1	-	5	1247	c.1127G>A	c.(1126-1128)cGg>cAg	p.R376Q	ZNF683_ENST00000349618.3_Missense_Mutation_p.R376Q|ZNF683_ENST00000374204.1_Missense_Mutation_p.R376Q|ZNF683_ENST00000403843.1_Missense_Mutation_p.R376Q			Q8IZ20	ZN683_HUMAN	zinc finger protein 683	376					natural killer cell differentiation (GO:0001779)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(1)	15		all_cancers(24;2.39e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.76e-26)|Colorectal(126;1.38e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|BRCA - Breast invasive adenocarcinoma(304;0.00099)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00793)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.159)|LUSC - Lung squamous cell carcinoma(448;0.233)		CTTGTGGGGCCGCTCCCCAGT	0.592													C|||	3	0.000599042	0	0	5008	,	,		19562	0.002		0	False		,,,				2504	0.001					ENST00000436292.1																			0				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(1)	15						c.(1126-1128)cGg>cAg		zinc finger protein 683							65	56	59					1																	26689533		2202	4300	6502	SO:0001583	missense	257101				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:26689533C>T	BC029505	CCDS279.2	1p36.11	2013-01-08			ENSG00000176083	ENSG00000176083		"Zinc fingers, C2H2-type"	28495	protein-coding gene	gene with protein product	"hypothetical protein MGC33414"					12477932	Standard	NM_173574		Approved	MGC33414	uc009vsj.1	Q8IZ20	OTTHUMG00000003521	ENST00000436292.1:c.1127G>A	1.37:g.26689533C>T	ENSP00000388792:p.Arg376Gln					ZNF683_ENST00000374204.1_Missense_Mutation_p.R376Q|ZNF683_ENST00000349618.3_Missense_Mutation_p.R376Q|ZNF683_ENST00000403843.1_Missense_Mutation_p.R376Q	p.R376Q			Q8IZ20	ZN683_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.76e-26)|Colorectal(126;1.38e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|BRCA - Breast invasive adenocarcinoma(304;0.00099)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00793)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.159)|LUSC - Lung squamous cell carcinoma(448;0.233)	5	1247	-		all_cancers(24;2.39e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	376					Q5T141|Q5T146|Q5T147|Q5T149|Q8NEN4	Missense_Mutation	SNP	ENST00000436292.1	37	c.1127G>A		2	9.157509157509158E-4	0	0.0	0	0.0	2	0.0034965034965034965	0	0.0	C	20.5	4.000406	0.74818	.	.	ENSG00000176083	ENST00000403843;ENST00000436292;ENST00000374204;ENST00000349618	T;T;T;T	0.19806	2.34;2.34;2.12;2.12	4.28	3.36	0.38483	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.31188	N	0.008092	T	0.20495	0.0493	L	0.32530	0.975	0.35601	D	0.807897	D;D	0.60575	0.988;0.979	P;P	0.50934	0.654;0.452	T	0.20240	-1.0281	10	0.72032	D	0.01	-16.5551	6.3224	0.21225	0.0:0.7798:0.0:0.2202	.	376;376	Q8IZ20-2;Q8IZ20	.;ZN683_HUMAN	Q	376	ENSP00000384782:R376Q;ENSP00000388792:R376Q;ENSP00000363320:R376Q;ENSP00000344095:R376Q	ENSP00000344095:R376Q	R	-	2	0	ZNF683	26562120	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.664000	0.54525	1.008000	0.39264	0.462000	0.41574	CGG		0.592	ZNF683-202	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000009794.2	NM_173574		4	8	0	0	0	1	0	4	8					T	26689533	C	T	26689533	3	4	435	1	0	0	0	0	1	0	0	0	18087	652	23	2	395	2	ZNF683	1	26689533	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	1117	26689533	222561088	184	21109											
ZNF683	257101	broad.mit.edu	37	chr1	26691066	26691066	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agctcttgccacatatgttgCactcgtacaggattttgcca	9	13	8	11	1	1	0	0	0	1	0	2	1	1	1	2	1	5	4	2	1	2	6	rs142754209		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:26691066C>T	ENST00000436292.1	-	4	1091	c.971G>A	c.(970-972)tGc>tAc	p.C324Y	ZNF683_ENST00000349618.3_Missense_Mutation_p.C324Y|ZNF683_ENST00000374204.1_Missense_Mutation_p.C324Y|ZNF683_ENST00000403843.1_Missense_Mutation_p.C324Y			Q8IZ20	ZN683_HUMAN	zinc finger protein 683	324					natural killer cell differentiation (GO:0001779)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(1)	15		all_cancers(24;2.39e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.76e-26)|Colorectal(126;1.38e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|BRCA - Breast invasive adenocarcinoma(304;0.00099)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00793)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.159)|LUSC - Lung squamous cell carcinoma(448;0.233)		ACATATGTTGCACTCGTACAG	0.547																																						ENST00000436292.1																			0				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(1)	15						c.(970-972)tGc>tAc		zinc finger protein 683		C	TYR/CYS,TYR/CYS	0,4406		0,0,2203	191	194	193		971,971	4.7	1	1	dbSNP_134	193	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	ZNF683	NM_001114759.1,NM_173574.2	194,194	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging	324/505,324/505	26691066	1,13005	2203	4300	6503	SO:0001583	missense	257101				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:26691066C>T	BC029505	CCDS279.2	1p36.11	2013-01-08			ENSG00000176083	ENSG00000176083		"Zinc fingers, C2H2-type"	28495	protein-coding gene	gene with protein product	"hypothetical protein MGC33414"					12477932	Standard	NM_173574		Approved	MGC33414	uc009vsj.1	Q8IZ20	OTTHUMG00000003521	ENST00000436292.1:c.971G>A	1.37:g.26691066C>T	ENSP00000388792:p.Cys324Tyr					ZNF683_ENST00000374204.1_Missense_Mutation_p.C324Y|ZNF683_ENST00000349618.3_Missense_Mutation_p.C324Y|ZNF683_ENST00000403843.1_Missense_Mutation_p.C324Y	p.C324Y			Q8IZ20	ZN683_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.76e-26)|Colorectal(126;1.38e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|BRCA - Breast invasive adenocarcinoma(304;0.00099)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00793)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.159)|LUSC - Lung squamous cell carcinoma(448;0.233)	4	1091	-		all_cancers(24;2.39e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	324					Q5T141|Q5T146|Q5T147|Q5T149|Q8NEN4	Missense_Mutation	SNP	ENST00000436292.1	37	c.971G>A		.	.	.	.	.	.	.	.	.	.	C	20.6	4.017879	0.75275	0.0	1.16E-4	ENSG00000176083	ENST00000403843;ENST00000436292;ENST00000374204;ENST00000349618	T;T;T;T	0.15718	2.4;2.4;2.4;2.4	4.67	4.67	0.58626	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.49305	D	0.000142	T	0.45518	0.1346	M	0.82323	2.585	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.51364	-0.8715	10	0.87932	D	0	-17.1342	15.0989	0.72256	0.0:1.0:0.0:0.0	.	324;324	Q8IZ20-2;Q8IZ20	.;ZN683_HUMAN	Y	324	ENSP00000384782:C324Y;ENSP00000388792:C324Y;ENSP00000363320:C324Y;ENSP00000344095:C324Y	ENSP00000344095:C324Y	C	-	2	0	ZNF683	26563653	1.000000	0.71417	0.999000	0.59377	0.748000	0.42578	7.251000	0.78297	2.414000	0.81942	0.561000	0.74099	TGC		0.547	ZNF683-202	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000009794.2	NM_173574		69	112	0	0	0	1	0	69	112					T	26691066	C	T	26691066	3	4	435	1	0	0	0	0	1	0	0	0	18087	710	25	3	555	3	ZNF683	1	26691066	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	1533	26691066	222559555	185	21110											
RPS6KA1	6195	broad.mit.edu	37	chr1	26872461	26872461	+	Intron	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cctggcttcccaggaagcagCggcccaggatcagccagacc	9	4	12	16	1	1	1	1	0	0	1	2	3	2	3	5	4	3	2	5	4	1	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:26872461C>T	ENST00000374168.2	+	3	262				RPS6KA1_ENST00000526792.1_Intron|RPS6KA1_ENST00000374162.2_Intron|RPS6KA1_ENST00000530003.1_Intron|RPS6KA1_ENST00000531382.1_Missense_Mutation_p.R24W|RPS6KA1_ENST00000374166.4_Intron	NM_002953.3	NP_002944.2	Q15418	KS6A1_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 1						axon guidance (GO:0007411)|cell cycle (GO:0007049)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell growth (GO:0030307)|positive regulation of hepatic stellate cell activation (GO:2000491)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of DNA-templated transcription in response to stress (GO:0043620)|regulation of translation in response to stress (GO:0043555)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|synaptic transmission (GO:0007268)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	ATP binding (GO:0005524)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)			lung(1)	1		all_cancers(24;2.49e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00571)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;1.12e-50)|OV - Ovarian serous cystadenocarcinoma(117;2.89e-29)|Colorectal(126;1.4e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000537)|KIRC - Kidney renal clear cell carcinoma(1967;0.000759)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0361)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.161)|LUSC - Lung squamous cell carcinoma(448;0.234)		CAGGAAGCAGCGGCCCAGGAT	0.697																																						ENST00000531382.1																			0				lung(1)	1						c.(70-72)Cgg>Tgg		ribosomal protein S6 kinase, 90kDa, polypeptide 1							15	15	15					1																	26872461		2198	4294	6492	SO:0001627	intron_variant	6195				axon guidance|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|caspase inhibitor activity|magnesium ion binding|protein binding|protein serine/threonine kinase activity	g.chr1:26872461C>T	BC014966	CCDS284.1, CCDS30649.1	1p	2011-04-05	2002-08-29		ENSG00000117676	ENSG00000117676			10430	protein-coding gene	gene with protein product		601684	"ribosomal protein S6 kinase, 90kD, polypeptide 1"			8141249	Standard	NM_001006665		Approved	RSK, RSK1, HU-1	uc001bms.1	Q15418	OTTHUMG00000004003	ENST00000374168.2:c.109-897C>T	1.37:g.26872461C>T						RPS6KA1_ENST00000526792.1_Intron|RPS6KA1_ENST00000374162.2_Intron|RPS6KA1_ENST00000374166.4_Intron|RPS6KA1_ENST00000374168.2_Intron|RPS6KA1_ENST00000530003.1_Intron	p.R24W	NM_001006665.1	NP_001006666.1	Q15418	KS6A1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;1.12e-50)|OV - Ovarian serous cystadenocarcinoma(117;2.89e-29)|Colorectal(126;1.4e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000537)|KIRC - Kidney renal clear cell carcinoma(1967;0.000759)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0361)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.161)|LUSC - Lung squamous cell carcinoma(448;0.234)	1	119	+		all_cancers(24;2.49e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00571)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	19					A6NGG4|A8K9K7|B2RDY8|B7Z5J0|Q5SVM5|Q5SVM8|Q5SVM9|Q96C05|Q9BQK2	Missense_Mutation	SNP	ENST00000374168.2	37	c.70C>T	CCDS284.1	.	.	.	.	.	.	.	.	.	.	C	19.14	3.769817	0.69992	.	.	ENSG00000117676	ENST00000531382	T	0.71103	-0.54	4.9	4.9	0.64082	.	0.000000	0.40908	D	0.000988	T	0.46946	0.1419	N	0.08118	0	0.80722	D	1	P	0.51653	0.947	B	0.33042	0.157	T	0.61613	-0.7027	10	0.72032	D	0.01	.	15.3775	0.74621	0.0:1.0:0.0:0.0	.	24	Q15418-2	.	W	24	ENSP00000435412:R24W	ENSP00000363278:R24W	R	+	1	2	RPS6KA1	26745048	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.328000	0.59253	2.554000	0.86153	0.561000	0.74099	CGG		0.697	RPS6KA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011431.1	NM_002953		3	7	0	0	0	1	0	3	7					T	26872461	C	T	26872461	1	4	435	0	1	0	0	0	0	0	0	0	13650	759	27	1		1	RPS6KA1	1	26872461	Intron	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	181395	26872461	222378160	186	21111											
RPS6KA1	6195	broad.mit.edu	37	chr1	26898078	26898078	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctcatgacaccttgctacAcagccaactttgtggcgcct	8	11	7	15	1	1	1	1	1	0	0	2	1	2	1	4	1	4	1	4	1	2	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:26898078A>G	ENST00000374168.2	+	18	1883	c.1729A>G	c.(1729-1731)Aca>Gca	p.T577A	RPS6KA1_ENST00000526792.1_Missense_Mutation_p.T485A|RPS6KA1_ENST00000374162.2_Missense_Mutation_p.T485A|RPS6KA1_ENST00000530003.1_Missense_Mutation_p.T561A|RPS6KA1_ENST00000531382.1_Missense_Mutation_p.T586A|RPS6KA1_ENST00000374166.4_Missense_Mutation_p.T566A	NM_002953.3	NP_002944.2	Q15418	KS6A1_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 1	577	Protein kinase 2. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|cell cycle (GO:0007049)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell growth (GO:0030307)|positive regulation of hepatic stellate cell activation (GO:2000491)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of DNA-templated transcription in response to stress (GO:0043620)|regulation of translation in response to stress (GO:0043555)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|synaptic transmission (GO:0007268)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	ATP binding (GO:0005524)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)			lung(1)	1		all_cancers(24;2.49e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00571)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;1.12e-50)|OV - Ovarian serous cystadenocarcinoma(117;2.89e-29)|Colorectal(126;1.4e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000537)|KIRC - Kidney renal clear cell carcinoma(1967;0.000759)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0361)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.161)|LUSC - Lung squamous cell carcinoma(448;0.234)		ACCTTGCTACACAGCCAACTT	0.597																																						ENST00000374168.2																			0				lung(1)	1						c.(1729-1731)Aca>Gca		ribosomal protein S6 kinase, 90kDa, polypeptide 1							65	56	59					1																	26898078		2203	4300	6503	SO:0001583	missense	6195				axon guidance|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|caspase inhibitor activity|magnesium ion binding|protein binding|protein serine/threonine kinase activity	g.chr1:26898078A>G	BC014966	CCDS284.1, CCDS30649.1	1p	2011-04-05	2002-08-29		ENSG00000117676	ENSG00000117676			10430	protein-coding gene	gene with protein product		601684	"ribosomal protein S6 kinase, 90kD, polypeptide 1"			8141249	Standard	NM_001006665		Approved	RSK, RSK1, HU-1	uc001bms.1	Q15418	OTTHUMG00000004003	ENST00000374168.2:c.1729A>G	1.37:g.26898078A>G	ENSP00000363283:p.Thr577Ala					RPS6KA1_ENST00000526792.1_Missense_Mutation_p.T485A|RPS6KA1_ENST00000374162.2_Missense_Mutation_p.T485A|RPS6KA1_ENST00000374166.4_Missense_Mutation_p.T566A|RPS6KA1_ENST00000530003.1_Missense_Mutation_p.T561A|RPS6KA1_ENST00000531382.1_Missense_Mutation_p.T586A	p.T577A	NM_002953.3	NP_002944.2	Q15418	KS6A1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;1.12e-50)|OV - Ovarian serous cystadenocarcinoma(117;2.89e-29)|Colorectal(126;1.4e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000537)|KIRC - Kidney renal clear cell carcinoma(1967;0.000759)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0361)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.161)|LUSC - Lung squamous cell carcinoma(448;0.234)	18	1883	+		all_cancers(24;2.49e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00571)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	577			Protein kinase 2.		A6NGG4|A8K9K7|B2RDY8|B7Z5J0|Q5SVM5|Q5SVM8|Q5SVM9|Q96C05|Q9BQK2	Missense_Mutation	SNP	ENST00000374168.2	37	c.1729A>G	CCDS284.1	.	.	.	.	.	.	.	.	.	.	A	28.0	4.881503	0.91740	.	.	ENSG00000117676	ENST00000374168;ENST00000374166;ENST00000526792;ENST00000374162;ENST00000530003;ENST00000531382	T;T;T;T;T;T	0.61627	0.09;0.09;0.09;0.09;0.09;0.09	5.55	5.55	0.83447	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.79639	0.4480	M	0.92738	3.34	0.80722	D	1	P;D;P	0.57899	0.947;0.981;0.479	P;P;P	0.60012	0.799;0.867;0.833	D	0.85213	0.1022	10	0.87932	D	0	.	15.6863	0.77411	1.0:0.0:0.0:0.0	.	561;586;577	B7Z2K7;Q15418-2;Q15418	.;.;KS6A1_HUMAN	A	577;566;485;485;561;586	ENSP00000363283:T577A;ENSP00000363281:T566A;ENSP00000431651:T485A;ENSP00000363277:T485A;ENSP00000432281:T561A;ENSP00000435412:T586A	ENSP00000363277:T485A	T	+	1	0	RPS6KA1	26770665	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	9.339000	0.96797	2.094000	0.63399	0.460000	0.39030	ACA		0.597	RPS6KA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011431.1	NM_002953		6	16	0	0	0	1	0	6	16					G	26898078	A	G	26898078	3	3	435	1	0	0	0	0	1	0	0	0	13650	159	6	4	1938	4	RPS6KA1	1	26898078	Missense_Mutation	SNP	A	TCGA-XK-AAIW-01A-11D-A41K-08	25617	26898078	222352543	187	21112											
ARID1A	8289	broad.mit.edu	37	chr1	27101587	27101587	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggtcccccagtacctgcctcGcacatagcacctgcccctgt	6	8	8	19	1	0	0	0	0	0	0	2	0	1	0	7	1	4	3	7	1	2	2	rs148936933	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:27101587G>A	ENST00000324856.7	+	18	5240	c.4869G>A	c.(4867-4869)tcG>tcA	p.S1623S	ARID1A_ENST00000540690.1_Intron|ARID1A_ENST00000374152.2_Silent_p.S1240S|ARID1A_ENST00000457599.2_Silent_p.S1406S	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	1623					androgen receptor signaling pathway (GO:0030521)|ATP-dependent chromatin remodeling (GO:0043044)|cardiac chamber development (GO:0003205)|chromatin remodeling (GO:0006338)|chromatin-mediated maintenance of transcription (GO:0048096)|forebrain development (GO:0030900)|glucocorticoid receptor signaling pathway (GO:0042921)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|nucleosome disassembly (GO:0006337)|nucleosome mobilization (GO:0042766)|optic cup formation involved in camera-type eye development (GO:0003408)|placenta blood vessel development (GO:0060674)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|transcription coactivator activity (GO:0003713)		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		TACCTGCCTCGCACATAGCAC	0.597			"Mis, N, F, S, D"		"clear cell ovarian carcinoma, RCC"								g|||	7	0.00139776	0.0045	0.0014	5008	,	,		17323	0		0	False		,,,				2504	0					ENST00000324856.7				Rec	yes		1	1p35.3	8289	"Mis, N, F, S, D"	AT rich interactive domain 1A (SWI-like)			E			"clear cell ovarian carcinoma, RCC"	ARID1A/MAST2_ENST00000361297(2)	0				NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411						c.(4867-4869)tcG>tcA		AT rich interactive domain 1A (SWI-like)		A	,	12,4394	19.1+/-41.9	0,12,2191	68	70	70		4869,4218	-10	0.1	1	dbSNP_134	70	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	ARID1A	NM_006015.4,NM_139135.2	,	0,12,6491	AA,AG,GG		0.0,0.2724,0.0923	,	1623/2286,1406/2069	27101587	12,12994	2203	4300	6503	SO:0001819	synonymous_variant	8289				androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding	g.chr1:27101587G>A	AB001895	CCDS285.1, CCDS44091.1	1p36.1-p35	2014-09-17	2006-11-08	2004-01-30	ENSG00000117713	ENSG00000117713		"-"	11110	protein-coding gene	gene with protein product		603024	"SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily f, member 1", "AT rich interactive domain 1A (SWI- like)"	C1orf4, SMARCF1		9630625, 9434167	Standard	NM_139135		Approved	B120, P270, C10rf4, BAF250, BAF250a	uc001bmv.1	O14497	OTTHUMG00000004004	ENST00000324856.7:c.4869G>A	1.37:g.27101587G>A						ARID1A_ENST00000374152.2_Silent_p.S1240S|ARID1A_ENST00000540690.1_Intron|ARID1A_ENST00000457599.2_Silent_p.S1406S	p.S1623S	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)	18	5240	+		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	1623					D3DPL1|Q53FK9|Q5T0W1|Q5T0W2|Q5T0W3|Q8NFD6|Q96T89|Q9BY33|Q9HBJ5|Q9UPZ1	Silent	SNP	ENST00000324856.7	37	c.4869G>A	CCDS285.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	g	1.301	-0.604835	0.03717	0.002724	0.0	ENSG00000117713	ENST00000430799	.	.	.	5.01	-10.0	0.00425	.	.	.	.	.	T	0.47967	0.1474	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.59327	-0.7475	4	.	.	.	-4.2824	9.3895	0.38363	0.6162:0.0719:0.2397:0.0723	.	.	.	.	T	520	.	.	A	+	1	0	ARID1A	26974174	0.000000	0.05858	0.104000	0.21259	0.847000	0.48162	-4.283000	0.00260	-2.659000	0.00420	-1.908000	0.00523	GCA		0.597	ARID1A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000011437.2	NM_139135		25	28	0	0	0	1	0	25	28					A	27101587	G	A	27101587	2	1	435	1	0	0	0	0	0	0	0	1	913	1074	38	1		1	ARID1A	1	27101587	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	203509	27101587	222149034	188	21113											
ARID1A	8289	broad.mit.edu	37	chr1	27105808	27105808	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atagtgaggagaagctgatcAgtaagtttgacaagcttcca	14	10	11	6	0	1	4	1	3	0	1	2	5	2	4	1	1	2	4	1	1	4	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:27105808A>G	ENST00000324856.7	+	20	5790	c.5419A>G	c.(5419-5421)Agt>Ggt	p.S1807G	ARID1A_ENST00000540690.1_Missense_Mutation_p.S135G|ARID1A_ENST00000374152.2_Missense_Mutation_p.S1424G|ARID1A_ENST00000457599.2_Missense_Mutation_p.S1590G	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	1807					androgen receptor signaling pathway (GO:0030521)|ATP-dependent chromatin remodeling (GO:0043044)|cardiac chamber development (GO:0003205)|chromatin remodeling (GO:0006338)|chromatin-mediated maintenance of transcription (GO:0048096)|forebrain development (GO:0030900)|glucocorticoid receptor signaling pathway (GO:0042921)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|nucleosome disassembly (GO:0006337)|nucleosome mobilization (GO:0042766)|optic cup formation involved in camera-type eye development (GO:0003408)|placenta blood vessel development (GO:0060674)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|transcription coactivator activity (GO:0003713)		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		GAAGCTGATCAGTAAGTTTGA	0.448			"Mis, N, F, S, D"		"clear cell ovarian carcinoma, RCC"																																	ENST00000324856.7				Rec	yes		1	1p35.3	8289	"Mis, N, F, S, D"	AT rich interactive domain 1A (SWI-like)			E			"clear cell ovarian carcinoma, RCC"	ARID1A/MAST2_ENST00000361297(2)	0				NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411						c.(5419-5421)Agt>Ggt		AT rich interactive domain 1A (SWI-like)							74	63	67					1																	27105808		2203	4300	6503	SO:0001583	missense	8289				androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding	g.chr1:27105808A>G	AB001895	CCDS285.1, CCDS44091.1	1p36.1-p35	2014-09-17	2006-11-08	2004-01-30	ENSG00000117713	ENSG00000117713		"-"	11110	protein-coding gene	gene with protein product		603024	"SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily f, member 1", "AT rich interactive domain 1A (SWI- like)"	C1orf4, SMARCF1		9630625, 9434167	Standard	NM_139135		Approved	B120, P270, C10rf4, BAF250, BAF250a	uc001bmv.1	O14497	OTTHUMG00000004004	ENST00000324856.7:c.5419A>G	1.37:g.27105808A>G	ENSP00000320485:p.Ser1807Gly					ARID1A_ENST00000374152.2_Missense_Mutation_p.S1424G|ARID1A_ENST00000540690.1_Missense_Mutation_p.S135G|ARID1A_ENST00000457599.2_Missense_Mutation_p.S1590G	p.S1807G	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)	20	5790	+		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	1807					D3DPL1|Q53FK9|Q5T0W1|Q5T0W2|Q5T0W3|Q8NFD6|Q96T89|Q9BY33|Q9HBJ5|Q9UPZ1	Missense_Mutation	SNP	ENST00000324856.7	37	c.5419A>G	CCDS285.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	19.38|19.38	3.816164|3.816164	0.70912|0.70912	.|.	.|.	ENSG00000117713|ENSG00000117713	ENST00000430799|ENST00000324856;ENST00000457599;ENST00000374152;ENST00000540690	.|T;T;T;T	.|0.13307	.|4.0;3.91;3.84;2.6	5.06|5.06	5.06|5.06	0.68205|0.68205	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.32041|0.32041	0.0816|0.0816	L|L	0.59436|0.59436	1.845|1.845	0.50813|0.50813	D|D	0.999896|0.999896	.|P;B;D	.|0.61697	.|0.607;0.296;0.99	.|P;B;D	.|0.72982	.|0.461;0.177;0.979	T|T	0.01397|0.01397	-1.1365|-1.1365	5|10	.|0.28530	.|T	.|0.3	-7.4966|-7.4966	15.2589|15.2589	0.73606|0.73606	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|1424;1807;1590	.|O14497-3;O14497;O14497-2	.|.;ARI1A_HUMAN;.	R|G	703|1807;1590;1424;135	.|ENSP00000320485:S1807G;ENSP00000387636:S1590G;ENSP00000363267:S1424G;ENSP00000442437:S135G	.|ENSP00000320485:S1807G	Q|S	+|+	2|1	0|0	ARID1A|ARID1A	26978395|26978395	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	8.540000|8.540000	0.90641|0.90641	2.251000|2.251000	0.74343|0.74343	0.482000|0.482000	0.46254|0.46254	CAG|AGT		0.448	ARID1A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000011437.2	NM_139135		3	23	0	0	0	1	0	3	23					G	27105808	A	G	27105808	3	3	435	1	0	0	0	0	1	0	0	0	913	188	7	4	5497	4	ARID1A	1	27105808	Missense_Mutation	SNP	A	TCGA-XK-AAIW-01A-11D-A41K-08	4221	27105808	222144813	189	21114											
C1orf172	126695	broad.mit.edu	37	chr1	27276630	27276630	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctggaaggatgagtcatggCttgctgggtaccctggtagg	7	10	16	8	0	1	1	1	1	0	0	1	3	1	3	2	6	2	4	2	6	3	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:27276630C>G	ENST00000320567.5	-	4	1215	c.1127G>C	c.(1126-1128)aGc>aCc	p.S376T		NM_152365.2	NP_689578.2	Q8NAX2	KDF1_HUMAN		376					developmental growth (GO:0048589)|establishment of skin barrier (GO:0061436)|keratinocyte development (GO:0003334)|limb epidermis development (GO:0060887)|morphogenesis of embryonic epithelium (GO:0016331)|negative regulation of keratinocyte proliferation (GO:0010839)|negative regulation of stem cell proliferation (GO:2000647)|positive regulation of epidermal cell differentiation (GO:0045606)|regulation of epidermal cell division (GO:0010482)	cell cortex (GO:0005938)|cell junction (GO:0030054)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)				NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	17		all_cancers(24;1.29e-21)|all_epithelial(13;2.35e-19)|Colorectal(325;0.000147)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Breast(348;0.00131)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;3.37e-51)|OV - Ovarian serous cystadenocarcinoma(117;2.22e-29)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000272)|STAD - Stomach adenocarcinoma(196;0.000588)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|READ - Rectum adenocarcinoma(331;0.0419)		TGAGTCATGGCTTGCTGGGTA	0.607																																						ENST00000320567.5																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	17						c.(1126-1128)aGc>aCc		chromosome 1 open reading frame 172							88	72	77					1																	27276630		2203	4300	6503	SO:0001583	missense	126695							g.chr1:27276630C>G																												ENST00000320567.5:c.1127G>C	1.37:g.27276630C>G	ENSP00000319179:p.Ser376Thr						p.S376T	NM_152365.2	NP_689578.2	Q8NAX2	CA172_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;3.37e-51)|OV - Ovarian serous cystadenocarcinoma(117;2.22e-29)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000272)|STAD - Stomach adenocarcinoma(196;0.000588)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|READ - Rectum adenocarcinoma(331;0.0419)	4	1215	-		all_cancers(24;1.29e-21)|all_epithelial(13;2.35e-19)|Colorectal(325;0.000147)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Breast(348;0.00131)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)	376					Q5QP32|Q8N0S7	Missense_Mutation	SNP	ENST00000320567.5	37	c.1127G>C	CCDS293.1	.	.	.	.	.	.	.	.	.	.	C	17.62	3.433701	0.62955	.	.	ENSG00000175707	ENST00000320567	T	0.25414	1.8	4.29	4.29	0.51040	.	0.481200	0.22393	N	0.060645	T	0.20861	0.0502	N	0.24115	0.695	0.43787	D	0.996325	B	0.32245	0.361	B	0.35770	0.21	T	0.07443	-1.0772	10	0.37606	T	0.19	.	15.4525	0.75285	0.0:1.0:0.0:0.0	.	376	Q8NAX2	CA172_HUMAN	T	376	ENSP00000319179:S376T	ENSP00000319179:S376T	S	-	2	0	C1orf172	27149217	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	5.058000	0.64300	2.374000	0.81015	0.655000	0.94253	AGC		0.607	C1orf172-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012340.1			30	36	0	0	0	1	0	30	36					G	27276630	C	G	27276630	3	3	435	1	0	0	0	0	1	0	0	0	2013	797	28	5	73	5	C1orf172	1	27276630	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	170822	27276630	221973991	190	21115											
SLC9A1	6548	broad.mit.edu	37	chr1	27426937	27426937	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	catcgtcggttcctggggacGaagtctccttgctccgcatc	5	11	11	14	4	1	0	0	0	1	0	7	2	3	1	3	3	1	3	3	3	1	2	rs372651626		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:27426937G>A	ENST00000263980.3	-	12	2884	c.2309C>T	c.(2308-2310)tCg>tTg	p.S770L	SLC9A1_ENST00000545949.1_Missense_Mutation_p.S431L|SLC9A1_ENST00000490329.1_5'Flank	NM_003047.4	NP_003038.2	P19634	SL9A1_HUMAN	solute carrier family 9, subfamily A (NHE1, cation proton antiporter 1), member 1	770					carbohydrate metabolic process (GO:0005975)|cardiac muscle cell differentiation (GO:0055007)|cell growth (GO:0016049)|cellular response to acidic pH (GO:0071468)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan catabolic process (GO:0030214)|hyaluronan metabolic process (GO:0030212)|hydrogen ion transmembrane transport (GO:1902600)|ion transport (GO:0006811)|negative regulation of apoptotic process (GO:0043066)|neuron death (GO:0070997)|positive regulation of action potential (GO:0045760)|positive regulation of cell growth (GO:0030307)|positive regulation of mitochondrial membrane permeability (GO:0035794)|protein oligomerization (GO:0051259)|regulation of intracellular pH (GO:0051453)|regulation of pH (GO:0006885)|regulation of sensory perception of pain (GO:0051930)|regulation of the force of heart contraction (GO:0002026)|response to acidic pH (GO:0010447)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|sodium ion export (GO:0071436)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium-dependent protein binding (GO:0048306)|sodium:proton antiporter activity (GO:0015385)|solute:proton antiporter activity (GO:0015299)			central_nervous_system(1)|cervix(3)|endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	27				UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;2.19e-50)|OV - Ovarian serous cystadenocarcinoma(117;1.8e-29)|Colorectal(126;7.61e-09)|COAD - Colon adenocarcinoma(152;9.32e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000521)|KIRC - Kidney renal clear cell carcinoma(1967;0.00079)|STAD - Stomach adenocarcinoma(196;0.00125)|READ - Rectum adenocarcinoma(331;0.046)	Amiloride(DB00594)	TCCTGGGGACGAAGTCTCCTT	0.627																																						ENST00000263980.3																			0				central_nervous_system(1)|cervix(3)|endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	27						c.(2308-2310)tCg>tTg		solute carrier family 9, subfamily A (NHE1, cation proton antiporter 1), member 1	Amiloride(DB00594)		LEU/SER	0,4406		0,0,2203	153	142	146		2309	4.1	0.5	1		146	3,8597	3.0+/-9.4	0,3,4297	no	missense	SLC9A1	NM_003047.3	145	0,3,6500	AA,AG,GG		0.0349,0.0,0.0231	possibly-damaging	770/816	27426937	3,13003	2203	4300	6503	SO:0001583	missense	6548				regulation of pH	integral to membrane	sodium:hydrogen antiporter activity	g.chr1:27426937G>A	M81768	CCDS295.1	1p36.1-p35	2014-06-13	2012-03-22		ENSG00000090020	ENSG00000090020		"Solute carriers"	11071	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 143"	107310	"solute carrier family 9 (sodium/hydrogen exchanger), isoform 1 (antiporter, Na+/H+, amiloride sensitive)", "solute carrier family 9 (sodium/hydrogen exchanger), member 1"	APNH, NHE1		8283968	Standard	NM_003047		Approved	PPP1R143	uc001bnm.4	P19634	OTTHUMG00000004271	ENST00000263980.3:c.2309C>T	1.37:g.27426937G>A	ENSP00000263980:p.Ser770Leu					SLC9A1_ENST00000545949.1_Missense_Mutation_p.S431L	p.S770L	NM_003047.4	NP_003038.2	P19634	SL9A1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;2.19e-50)|OV - Ovarian serous cystadenocarcinoma(117;1.8e-29)|Colorectal(126;7.61e-09)|COAD - Colon adenocarcinoma(152;9.32e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000521)|KIRC - Kidney renal clear cell carcinoma(1967;0.00079)|STAD - Stomach adenocarcinoma(196;0.00125)|READ - Rectum adenocarcinoma(331;0.046)	12	2884	-			770					B1ALD6|D3DPL4|Q96EM2	Missense_Mutation	SNP	ENST00000263980.3	37	c.2309C>T	CCDS295.1	.	.	.	.	.	.	.	.	.	.	g	12.35	1.911628	0.33721	0.0	3.49E-4	ENSG00000090020	ENST00000263980;ENST00000374089;ENST00000545949;ENST00000447808	T;T	0.49432	0.78;1.37	4.06	4.06	0.47325	.	0.725046	0.13189	N	0.406855	T	0.37489	0.1005	L	0.51422	1.61	0.39762	D	0.972035	P	0.39094	0.659	B	0.20184	0.028	T	0.42378	-0.9455	10	0.27082	T	0.32	.	16.0401	0.80667	0.0:0.0:1.0:0.0	.	770	P19634	SL9A1_HUMAN	L	770;274;431;191	ENSP00000263980:S770L;ENSP00000445520:S431L	ENSP00000263980:S770L	S	-	2	0	SLC9A1	27299524	1.000000	0.71417	0.519000	0.27824	0.315000	0.28087	6.296000	0.72751	2.111000	0.64477	0.580000	0.79431	TCG		0.627	SLC9A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012336.2	NM_003047		33	57	0	0	0	1	0	33	57					A	27426937	G	A	27426937	3	1	435	1	0	0	0	0	1	0	0	0	14709	1059	37	2	142	2	SLC9A1	1	27426937	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	150307	27426937	221823684	191	21116											
MAP3K6	9064	broad.mit.edu	37	chr1	27687252	27687252	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcaccctcgtgtggcgatcGcggcccgcgtacaccacccc	5	5	11	20	7	0	0	0	0	0	0	2	1	0	0	5	2	1	2	5	2	1	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:27687252G>A	ENST00000493901.1	-	16	2237	c.1998C>T	c.(1996-1998)cgC>cgT	p.R666R	MAP3K6_ENST00000374040.3_Silent_p.R658R|MAP3K6_ENST00000357582.2_Silent_p.R666R	NM_004672.3	NP_004663.3	O95382	M3K6_HUMAN	mitogen-activated protein kinase kinase kinase 6	666	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of JUN kinase activity (GO:0007257)|activation of MAPKK activity (GO:0000186)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)		ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|MAP kinase kinase kinase activity (GO:0004709)			breast(4)|central_nervous_system(2)|lung(3)|ovary(1)	10		all_lung(284;1.6e-05)|Lung NSC(340;2.92e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.0175)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.69e-27)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00132)|KIRC - Kidney renal clear cell carcinoma(1967;0.00163)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		TGTGGCGATCGCGGCCCGCGT	0.697																																						ENST00000493901.1																			0				breast(4)|central_nervous_system(2)|lung(3)|ovary(1)	10						c.(1996-1998)cgC>cgT		mitogen-activated protein kinase kinase kinase 6							23	26	25					1																	27687252		2200	4298	6498	SO:0001819	synonymous_variant	9064				activation of JUN kinase activity		ATP binding|magnesium ion binding|MAP kinase kinase kinase activity	g.chr1:27687252G>A	AF100318	CCDS299.1, CCDS72738.1	1p36.11	2011-06-09			ENSG00000142733	ENSG00000142733		"Mitogen-activated protein kinase cascade / Kinase kinase kinases"	6858	protein-coding gene	gene with protein product	"apoptosis signal regulating kinase 2"	604468				9875215	Standard	XM_005246029		Approved	MAPKKK6, ASK2, MEKK6	uc001bny.1	O95382	OTTHUMG00000004631	ENST00000493901.1:c.1998C>T	1.37:g.27687252G>A						MAP3K6_ENST00000357582.2_Silent_p.R666R|MAP3K6_ENST00000374040.3_Silent_p.R658R	p.R666R	NM_004672.3	NP_004663.3	O95382	M3K6_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.69e-27)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00132)|KIRC - Kidney renal clear cell carcinoma(1967;0.00163)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)	16	2237	-		all_lung(284;1.6e-05)|Lung NSC(340;2.92e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.0175)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	666			Protein kinase.		A2ACE8|A2VDG4|A2VDG5|Q59HF4|Q5SSD4|Q75PK3|Q96B75	Silent	SNP	ENST00000493901.1	37	c.1998C>T	CCDS299.1	.	.	.	.	.	.	.	.	.	.	G	8.295	0.818627	0.16607	.	.	ENSG00000142733	ENST00000472410	.	.	.	4.55	-0.0554	0.13809	.	.	.	.	.	T	0.50786	0.1636	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.35943	-0.9768	4	.	.	.	.	5.6611	0.17670	0.0864:0.3659:0.4415:0.1062	.	.	.	.	V	390	.	.	A	-	2	0	MAP3K6	27559839	0.009000	0.17119	0.954000	0.39281	0.474000	0.32979	-1.107000	0.03316	-0.082000	0.12640	-1.134000	0.01955	GCG		0.697	MAP3K6-001	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000013469.2	NM_004672		8	16	0	0	0	1	0	8	16					A	27687252	G	A	27687252	2	1	435	1	0	0	0	0	0	0	0	1	9254	1074	38	1		1	MAP3K6	1	27687252	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	260315	27687252	221563369	192	21117											
AHDC1	27245	broad.mit.edu	37	chr1	27874390	27874390	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagctttgtgggcggtggccGcagctcttccttgaagccca	5	10	13	13	2	1	1	0	1	1	0	2	1	2	1	3	3	3	3	3	3	1	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:27874390G>A	ENST00000247087.5	-	5	4833	c.4237C>T	c.(4237-4239)Cgg>Tgg	p.R1413W	AHDC1_ENST00000374011.2_Missense_Mutation_p.R1413W			Q5TGY3	AHDC1_HUMAN	AT hook, DNA binding motif, containing 1	1413							DNA binding (GO:0003677)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;8.48e-25)|Colorectal(126;9.17e-09)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00192)|BRCA - Breast invasive adenocarcinoma(304;0.00259)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0291)		GGCGGTGGCCGCAGCTCTTCC	0.682																																						ENST00000374011.2																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42						c.(4237-4239)Cgg>Tgg		AT hook, DNA binding motif, containing 1							24	25	25					1																	27874390		2195	4279	6474	SO:0001583	missense	27245						DNA binding	g.chr1:27874390G>A	AK125431	CCDS30652.1	1p36.13	2008-02-05			ENSG00000126705	ENSG00000126705			25230	protein-coding gene	gene with protein product		615790				8619474, 9110174	Standard	XM_005245848		Approved	DJ159A19.3, RP1-159A19.1	uc009vsy.3	Q5TGY3	OTTHUMG00000003398	ENST00000247087.5:c.4237C>T	1.37:g.27874390G>A	ENSP00000247087:p.Arg1413Trp					AHDC1_ENST00000247087.5_Missense_Mutation_p.R1413W|AHDC1_ENST00000482400.2_Intron	p.R1413W	NM_001029882.2	NP_001025053.1	Q5TGY3	AHDC1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;8.48e-25)|Colorectal(126;9.17e-09)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00192)|BRCA - Breast invasive adenocarcinoma(304;0.00259)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0291)	6	5205	-		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	1413					Q5TGY4|Q6PJK1|Q6ZUQ6|Q99769|Q9NUF5	Missense_Mutation	SNP	ENST00000247087.5	37	c.4237C>T	CCDS30652.1	.	.	.	.	.	.	.	.	.	.	G	17.39	3.378010	0.61735	.	.	ENSG00000126705	ENST00000247087;ENST00000374011	T;T	0.54279	0.58;0.58	5.67	4.75	0.60458	.	0.193105	0.35124	N	0.003425	T	0.56156	0.1966	N	0.19112	0.55	0.44247	D	0.997095	D	0.76494	0.999	D	0.67548	0.952	T	0.61888	-0.6970	10	0.87932	D	0	-15.0341	12.7826	0.57485	0.0:0.0:0.7024:0.2976	.	1413	Q5TGY3	AHDC1_HUMAN	W	1413	ENSP00000247087:R1413W;ENSP00000363123:R1413W	ENSP00000247087:R1413W	R	-	1	2	AHDC1	27746977	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	3.055000	0.49916	1.393000	0.46605	0.655000	0.94253	CGG		0.682	AHDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009523.3			33	49	0	0	0	1	0	33	49					A	27874390	G	A	27874390	3	1	435	1	0	0	0	0	1	0	0	0	412	1086	38	1	578	1	AHDC1	1	27874390	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	187138	27874390	221376231	193	21118											
AHDC1	27245	broad.mit.edu	37	chr1	27877906	27877906	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctcactaaggatgtcggcgtCagcaagttctgagtaatcag	11	10	11	9	2	4	1	3	1	1	0	5	2	4	2	0	2	1	3	0	2	3	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:27877906C>T	ENST00000247087.5	-	5	1317	c.721G>A	c.(721-723)Gac>Aac	p.D241N	AHDC1_ENST00000374011.2_Missense_Mutation_p.D241N			Q5TGY3	AHDC1_HUMAN	AT hook, DNA binding motif, containing 1	241	Pro-rich.						DNA binding (GO:0003677)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;8.48e-25)|Colorectal(126;9.17e-09)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00192)|BRCA - Breast invasive adenocarcinoma(304;0.00259)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0291)		ATGTCGGCGTCAGCAAGTTCT	0.667																																						ENST00000374011.2																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42						c.(721-723)Gac>Aac		AT hook, DNA binding motif, containing 1							41	46	44					1																	27877906		2203	4300	6503	SO:0001583	missense	27245						DNA binding	g.chr1:27877906C>T	AK125431	CCDS30652.1	1p36.13	2008-02-05			ENSG00000126705	ENSG00000126705			25230	protein-coding gene	gene with protein product		615790				8619474, 9110174	Standard	XM_005245848		Approved	DJ159A19.3, RP1-159A19.1	uc009vsy.3	Q5TGY3	OTTHUMG00000003398	ENST00000247087.5:c.721G>A	1.37:g.27877906C>T	ENSP00000247087:p.Asp241Asn					AHDC1_ENST00000247087.5_Missense_Mutation_p.D241N|AHDC1_ENST00000482400.2_5'UTR	p.D241N	NM_001029882.2	NP_001025053.1	Q5TGY3	AHDC1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;8.48e-25)|Colorectal(126;9.17e-09)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00192)|BRCA - Breast invasive adenocarcinoma(304;0.00259)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0291)	6	1689	-		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	241			Pro-rich.		Q5TGY4|Q6PJK1|Q6ZUQ6|Q99769|Q9NUF5	Missense_Mutation	SNP	ENST00000247087.5	37	c.721G>A	CCDS30652.1	.	.	.	.	.	.	.	.	.	.	C	25.0	4.593635	0.86953	.	.	ENSG00000126705	ENST00000247087;ENST00000374011	T;T	0.50548	0.74;0.74	5.16	5.16	0.70880	.	0.212918	0.22742	U	0.056192	T	0.34629	0.0904	N	0.14661	0.345	0.37000	D	0.895225	P	0.37330	0.59	B	0.37451	0.25	T	0.47686	-0.9098	10	0.56958	D	0.05	-6.3498	15.5661	0.76294	0.0:1.0:0.0:0.0	.	241	Q5TGY3	AHDC1_HUMAN	N	241	ENSP00000247087:D241N;ENSP00000363123:D241N	ENSP00000247087:D241N	D	-	1	0	AHDC1	27750493	0.990000	0.36364	0.565000	0.28409	0.808000	0.45660	5.119000	0.64679	2.407000	0.81776	0.467000	0.42956	GAC		0.667	AHDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009523.3			11	27	0	0	0	1	0	11	27					T	27877906	C	T	27877906	3	4	435	1	0	0	0	0	1	0	0	0	412	826	29	3	4094	3	AHDC1	1	27877906	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	3516	27877906	221372715	194	21119											
IFI6	2537	broad.mit.edu	37	chr1	27994863	27994863	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcgccggtgaagcccagcgCgggcagcccggcgactgcga	6	2	18	15	7	0	1	0	1	0	0	0	3	0	1	3	4	4	1	3	4	1	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:27994863C>T	ENST00000361157.6	-	4	299	c.172G>A	c.(172-174)Gcg>Acg	p.A58T	IFI6_ENST00000362020.4_Missense_Mutation_p.A62T|RP11-288L9.4_ENST00000430683.1_RNA|IFI6_ENST00000339145.4_Missense_Mutation_p.A66T	NM_002038.3|NM_022872.2|NM_022873.2	NP_002029.3|NP_075010.1|NP_075011.1	P09912	IFI6_HUMAN	interferon, alpha-inducible protein 6	58					cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of mitochondrial depolarization (GO:0051902)|release of cytochrome c from mitochondria (GO:0001836)|type I interferon signaling pathway (GO:0060337)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)				lung(1)|ovary(1)	2		Colorectal(325;3.46e-05)|all_lung(284;4.29e-05)|Lung NSC(340;7.75e-05)|Renal(390;0.00121)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.11e-24)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00244)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		AAGCCCAGCGCGGGCAGCCCG	0.741																																						ENST00000361157.6																			0				lung(1)|ovary(1)	2						c.(172-174)Gcg>Acg		interferon, alpha-inducible protein 6							5	7	6					1																	27994863		2059	3983	6042	SO:0001583	missense	2537				anti-apoptosis|negative regulation of caspase activity|negative regulation of mitochondrial depolarization|release of cytochrome c from mitochondria|type I interferon-mediated signaling pathway	integral to membrane|mitochondrion	protein binding	g.chr1:27994863C>T	BC015603	CCDS306.1, CCDS307.1, CCDS308.1	1p35	2008-02-05	2006-04-21	2006-04-21	ENSG00000126709	ENSG00000126709			4054	protein-coding gene	gene with protein product		147572	"interferon, alpha-inducible protein (clone IFI-6-16)"	G1P3			Standard	NM_002038		Approved	IFI616, FAM14C, 6-16, IFI-6-16	uc001bon.1	P09912	OTTHUMG00000003518	ENST00000361157.6:c.172G>A	1.37:g.27994863C>T	ENSP00000354736:p.Ala58Thr					IFI6_ENST00000339145.4_Missense_Mutation_p.A66T|IFI6_ENST00000362020.4_Missense_Mutation_p.A62T	p.A58T	NM_002038.3|NM_022872.2|NM_022873.2	NP_002029.3|NP_075010.1|NP_075011.1	P09912	IFI6_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.11e-24)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00244)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)	4	299	-		Colorectal(325;3.46e-05)|all_lung(284;4.29e-05)|Lung NSC(340;7.75e-05)|Renal(390;0.00121)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	58					Q13141|Q13142|Q5VVR2|Q5VVR3|Q6IE95|Q969M8	Missense_Mutation	SNP	ENST00000361157.6	37	c.172G>A	CCDS306.1	.	.	.	.	.	.	.	.	.	.	C	16.71	3.198559	0.58126	.	.	ENSG00000126709	ENST00000361157;ENST00000339145;ENST00000362020	T;T;T	0.36878	1.23;1.23;1.23	3.41	2.49	0.30216	.	0.718660	0.13099	N	0.413935	T	0.48040	0.1478	M	0.83223	2.63	0.09310	N	1	D;D;D	0.60160	0.971;0.971;0.987	P;P;P	0.50860	0.575;0.575;0.652	T	0.40251	-0.9573	10	0.72032	D	0.01	.	6.7582	0.23526	0.0:0.866:0.0:0.134	.	62;58;66	Q5VVR2;P09912;P09912-3	.;IFI6_HUMAN;.	T	58;66;62	ENSP00000354736:A58T;ENSP00000342513:A66T;ENSP00000355152:A62T	ENSP00000342513:A66T	A	-	1	0	IFI6	27867450	0.000000	0.05858	0.003000	0.11579	0.034000	0.12701	-0.417000	0.07088	0.783000	0.33636	0.563000	0.77884	GCG		0.741	IFI6-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000009780.1	NM_022873		4	1	0	0	0	1	0	4	1					T	27994863	C	T	27994863	3	4	435	1	0	0	0	0	1	0	0	0	7519	768	27	1	228	1	IFI6	1	27994863	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	116957	27994863	221255758	195	21120											
C1orf38	9473	broad.mit.edu	37	chr1	28209434	28209434	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acagtggaggagctgacagaCaccttctattatcgtcttcg	10	11	10	10	2	2	2	0	1	2	1	4	4	2	4	1	2	1	1	1	2	2	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:28209434C>T	ENST00000373921.3	+	4	1603	c.1599C>T	c.(1597-1599)gaC>gaT	p.D533D	THEMIS2_ENST00000373925.1_Intron|THEMIS2_ENST00000373927.3_Intron|THEMIS2_ENST00000328928.7_Silent_p.D404D	NM_001105556.1	NP_001099026.1	Q5TEJ8	THMS2_HUMAN	thymocyte selection associated family member 2	533					cell adhesion (GO:0007155)|inflammatory response (GO:0006954)|T cell receptor signaling pathway (GO:0050852)	cytoplasm (GO:0005737)|nucleus (GO:0005634)											AGCTGACAGACACCTTCTATT	0.592																																						ENST00000373921.3																			0											c.(1597-1599)gaC>gaT		thymocyte selection associated family member 2							90	90	90					1																	28209434		1990	4162	6152	SO:0001819	synonymous_variant	9473							g.chr1:28209434C>T	AF044896	CCDS30653.1, CCDS30654.1, CCDS41290.1, CCDS65461.1	1p35.2	2012-07-10	2012-07-10	2012-07-10	ENSG00000130775	ENSG00000130775			16839	protein-coding gene	gene with protein product	"induced by contact to basement membrane 1"		"chromosome 1 open reading frame 38"	C1orf38		16219472	Standard	XM_005246041		Approved	ICB-1, Icb-1	uc001bpc.4	Q5TEJ8	OTTHUMG00000003735	ENST00000373921.3:c.1599C>T	1.37:g.28209434C>T						THEMIS2_ENST00000373925.1_Intron|THEMIS2_ENST00000328928.7_Silent_p.D404D|THEMIS2_ENST00000373927.3_Intron	p.D533D	NM_001105556.1	NP_001099026.1					4	1603	+								A2RTZ3|B4DZT9|B4DZY3|O60560|Q5TEJ1|Q5TEJ9|Q5TEK1|Q68DP4|Q9BYB6|Q9NS90	Silent	SNP	ENST00000373921.3	37	c.1599C>T	CCDS41290.1	.	.	.	.	.	.	.	.	.	.	C	0.149	-1.093872	0.01858	.	.	ENSG00000130775	ENST00000456990	.	.	.	5.07	-10.1	0.00402	.	.	.	.	.	T	0.32406	0.0828	.	.	.	0.50171	D	0.999855	.	.	.	.	.	.	T	0.51663	-0.8677	4	.	.	.	-2.5598	1.4435	0.02359	0.297:0.1547:0.336:0.2123	.	.	.	.	I	281	.	.	T	+	2	0	C1orf38	28082021	0.000000	0.05858	0.000000	0.03702	0.140000	0.21249	-5.199000	0.00142	-4.268000	0.00060	-0.266000	0.10368	ACA		0.592	THEMIS2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011148.1	NM_004848		5	64	0	0	0	1	0	5	64					T	28209434	C	T	28209434	2	4	435	1	0	0	0	0	0	0	0	1	2039	477	17	3		3	C1orf38	1	28209434	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	214571	28209434	221041187	196	21121											
SMPDL3B	27293	broad.mit.edu	37	chr1	28275623	28275623	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gaaactgggagaggcagctgTactggaaattgtggaacgcc	12	7	15	7	1	0	1	0	0	0	1	0	5	0	3	1	4	4	3	1	4	4	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:28275623T>C	ENST00000373894.3	+	3	514	c.323T>C	c.(322-324)gTa>gCa	p.V108A	SMPDL3B_ENST00000549094.1_Missense_Mutation_p.V108A|RP11-460I13.2_ENST00000448015.1_RNA|SMPDL3B_ENST00000373888.4_Missense_Mutation_p.V108A	NM_014474.2	NP_055289.2	Q92485	ASM3B_HUMAN	sphingomyelin phosphodiesterase, acid-like 3B	108					sphingomyelin catabolic process (GO:0006685)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	hydrolase activity, acting on glycosyl bonds (GO:0016798)|sphingomyelin phosphodiesterase activity (GO:0004767)			endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	16		Colorectal(325;3.46e-05)|all_lung(284;0.000414)|Lung NSC(340;0.000431)|Renal(390;0.00121)|Breast(348;0.00345)|Ovarian(437;0.00503)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0419)|OV - Ovarian serous cystadenocarcinoma(117;5.68e-24)|Colorectal(126;1.65e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00303)|BRCA - Breast invasive adenocarcinoma(304;0.00587)|READ - Rectum adenocarcinoma(331;0.055)		GAGGCAGCTGTACTGGAAATT	0.527																																						ENST00000373894.3																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	16						c.(322-324)gTa>gCa		sphingomyelin phosphodiesterase, acid-like 3B							122	108	113					1																	28275623		2203	4300	6503	SO:0001583	missense	27293				sphingomyelin catabolic process	extracellular space	hydrolase activity, acting on glycosyl bonds|sphingomyelin phosphodiesterase activity	g.chr1:28275623T>C	Y08134	CCDS30655.1, CCDS30656.1	1p35.3	2008-02-05			ENSG00000130768	ENSG00000130768			21416	protein-coding gene	gene with protein product							Standard	NM_014474		Approved	ASML3B	uc001bpg.3	Q92485	OTTHUMG00000003910	ENST00000373894.3:c.323T>C	1.37:g.28275623T>C	ENSP00000363001:p.Val108Ala					SMPDL3B_ENST00000373888.4_Missense_Mutation_p.V108A|SMPDL3B_ENST00000549094.1_Missense_Mutation_p.V108A|RP11-460I13.2_ENST00000448015.1_RNA	p.V108A	NM_014474.2	NP_055289.2	Q92485	ASM3B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0419)|OV - Ovarian serous cystadenocarcinoma(117;5.68e-24)|Colorectal(126;1.65e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00303)|BRCA - Breast invasive adenocarcinoma(304;0.00587)|READ - Rectum adenocarcinoma(331;0.055)	3	514	+		Colorectal(325;3.46e-05)|all_lung(284;0.000414)|Lung NSC(340;0.000431)|Renal(390;0.00121)|Breast(348;0.00345)|Ovarian(437;0.00503)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)	108					B7ZB35|Q5T0Z0|Q96CB7	Missense_Mutation	SNP	ENST00000373894.3	37	c.323T>C	CCDS30655.1	.	.	.	.	.	.	.	.	.	.	T	19.17	3.775227	0.70107	.	.	ENSG00000130768	ENST00000373894;ENST00000373890;ENST00000411604;ENST00000373888;ENST00000549094;ENST00000412515	D;D;D;D	0.94232	-1.82;-1.82;-1.82;-3.38	5.85	5.85	0.93711	Metallophosphoesterase domain (1);	0.000000	0.85682	D	0.000000	D	0.96470	0.8848	M	0.77103	2.36	0.53688	D	0.99997	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.79784	0.98;0.993;0.983	D	0.96260	0.9190	10	0.46703	T	0.11	-31.7329	16.2375	0.82384	0.0:0.0:0.0:1.0	.	108;108;108	F8VWW8;Q92485;Q92485-2	.;ASM3B_HUMAN;.	A	108;138;138;108;108;108	ENSP00000363001:V108A;ENSP00000388092:V138A;ENSP00000362995:V108A;ENSP00000449450:V108A	ENSP00000362995:V108A	V	+	2	0	SMPDL3B	28148210	1.000000	0.71417	0.674000	0.29902	0.171000	0.22731	7.750000	0.85110	2.222000	0.72286	0.533000	0.62120	GTA		0.527	SMPDL3B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000011170.1	NM_014474		8	22	0	0	0	1	0	8	22					C	28275623	T	C	28275623	3	2	435	1	0	0	0	0	1	0	0	0	14809	1638	57	4	333	4	SMPDL3B	1	28275623	Missense_Mutation	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	66189	28275623	220974998	197	21122											
SMPDL3B	27293	broad.mit.edu	37	chr1	28285226	28285226	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcagcatgcagcacgtgtgTgccatgcgccaggtggacat	8	8	14	11	2	0	0	0	0	0	0	0	1	0	1	2	2	6	4	2	2	0	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:28285226T>C	ENST00000373894.3	+	8	1436	c.1245T>C	c.(1243-1245)tgT>tgC	p.C415C	XKR8_ENST00000373884.5_5'Flank|SMPDL3B_ENST00000549094.1_Silent_p.C367C|RP11-460I13.2_ENST00000448015.1_RNA	NM_014474.2	NP_055289.2	Q92485	ASM3B_HUMAN	sphingomyelin phosphodiesterase, acid-like 3B	415					sphingomyelin catabolic process (GO:0006685)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	hydrolase activity, acting on glycosyl bonds (GO:0016798)|sphingomyelin phosphodiesterase activity (GO:0004767)			endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	16		Colorectal(325;3.46e-05)|all_lung(284;0.000414)|Lung NSC(340;0.000431)|Renal(390;0.00121)|Breast(348;0.00345)|Ovarian(437;0.00503)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0419)|OV - Ovarian serous cystadenocarcinoma(117;5.68e-24)|Colorectal(126;1.65e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00303)|BRCA - Breast invasive adenocarcinoma(304;0.00587)|READ - Rectum adenocarcinoma(331;0.055)		AGCACGTGTGTGCCATGCGCC	0.627																																						ENST00000373894.3																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	16						c.(1243-1245)tgT>tgC		sphingomyelin phosphodiesterase, acid-like 3B							101	86	91					1																	28285226		2203	4300	6503	SO:0001819	synonymous_variant	27293				sphingomyelin catabolic process	extracellular space	hydrolase activity, acting on glycosyl bonds|sphingomyelin phosphodiesterase activity	g.chr1:28285226T>C	Y08134	CCDS30655.1, CCDS30656.1	1p35.3	2008-02-05			ENSG00000130768	ENSG00000130768			21416	protein-coding gene	gene with protein product							Standard	NM_014474		Approved	ASML3B	uc001bpg.3	Q92485	OTTHUMG00000003910	ENST00000373894.3:c.1245T>C	1.37:g.28285226T>C						SMPDL3B_ENST00000549094.1_Silent_p.C367C|RP11-460I13.2_ENST00000448015.1_RNA	p.C415C	NM_014474.2	NP_055289.2	Q92485	ASM3B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0419)|OV - Ovarian serous cystadenocarcinoma(117;5.68e-24)|Colorectal(126;1.65e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00303)|BRCA - Breast invasive adenocarcinoma(304;0.00587)|READ - Rectum adenocarcinoma(331;0.055)	8	1436	+		Colorectal(325;3.46e-05)|all_lung(284;0.000414)|Lung NSC(340;0.000431)|Renal(390;0.00121)|Breast(348;0.00345)|Ovarian(437;0.00503)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)	415					B7ZB35|Q5T0Z0|Q96CB7	Silent	SNP	ENST00000373894.3	37	c.1245T>C	CCDS30655.1																																																																																				0.627	SMPDL3B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000011170.1	NM_014474		30	41	0	0	0	1	0	30	41					C	28285226	T	C	28285226	2	2	435	1	0	0	0	0	0	0	0	1	14809	1702	59	4		4	SMPDL3B	1	28285226	Silent	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	9603	28285226	220965395	198	21123											
SESN2	83667	broad.mit.edu	37	chr1	28595713	28595713	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagcagagggagagccgggCtcggcgaggccctcgagggc	7	2	21	11	4	0	2	0	0	0	2	2	6	0	3	2	6	2	2	2	6	0	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:28595713C>T	ENST00000253063.3	+	2	431	c.110C>T	c.(109-111)gCt>gTt	p.A37V		NM_031459.4	NP_113647.1	P58004	SESN2_HUMAN	sestrin 2	37					autophagy (GO:0006914)|fatty acid beta-oxidation (GO:0006635)|glucose import (GO:0046323)|mitochondrial DNA metabolic process (GO:0032042)|protein kinase B signaling (GO:0043491)|regulation of cAMP-dependent protein kinase activity (GO:2000479)|regulation of gluconeogenesis involved in cellular glucose homeostasis (GO:0090526)|regulation of response to reactive oxygen species (GO:1901031)|response to glucose (GO:0009749)|response to insulin (GO:0032868)|triglyceride homeostasis (GO:0070328)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				cervix(1)|endometrium(3)|large_intestine(5)|lung(7)|ovary(2)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	27		Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;4.76e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)		OV - Ovarian serous cystadenocarcinoma(117;2.98e-22)|Colorectal(126;3.04e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00279)|STAD - Stomach adenocarcinoma(196;0.00303)|BRCA - Breast invasive adenocarcinoma(304;0.00595)|READ - Rectum adenocarcinoma(331;0.0649)		GAGAGCCGGGCTCGGCGAGGC	0.557																																						ENST00000253063.3																			0				cervix(1)|endometrium(3)|large_intestine(5)|lung(7)|ovary(2)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	27						c.(109-111)gCt>gTt		sestrin 2							58	64	62					1																	28595713		2203	4300	6503	SO:0001583	missense	83667				cell cycle arrest	cytoplasm|nucleus		g.chr1:28595713C>T	AY123223	CCDS321.1	1p35.2	2008-02-05			ENSG00000130766	ENSG00000130766			20746	protein-coding gene	gene with protein product		607767				12607115, 12203114	Standard	NM_031459		Approved	SES2, DKFZp761M0212, HI95, SEST2	uc001bps.3	P58004	OTTHUMG00000003532	ENST00000253063.3:c.110C>T	1.37:g.28595713C>T	ENSP00000253063:p.Ala37Val						p.A37V	NM_031459.4	NP_113647.1	P58004	SESN2_HUMAN		OV - Ovarian serous cystadenocarcinoma(117;2.98e-22)|Colorectal(126;3.04e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00279)|STAD - Stomach adenocarcinoma(196;0.00303)|BRCA - Breast invasive adenocarcinoma(304;0.00595)|READ - Rectum adenocarcinoma(331;0.0649)	2	431	+		Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;4.76e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)	37					Q5T7D0|Q96SI5	Missense_Mutation	SNP	ENST00000253063.3	37	c.110C>T	CCDS321.1	.	.	.	.	.	.	.	.	.	.	C	9.703	1.154919	0.21371	.	.	ENSG00000130766	ENST00000253063	T	0.18810	2.19	5.38	2.34	0.29019	.	0.529886	0.21055	N	0.080925	T	0.08758	0.0217	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.39440	-0.9614	10	0.10902	T	0.67	0.9852	8.4689	0.32973	0.0:0.5993:0.0:0.4007	.	37	P58004	SESN2_HUMAN	V	37	ENSP00000253063:A37V	ENSP00000253063:A37V	A	+	2	0	SESN2	28468300	0.035000	0.19736	0.379000	0.26080	0.873000	0.50193	0.783000	0.26802	0.203000	0.20529	0.655000	0.94253	GCT		0.557	SESN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009840.1			22	34	0	0	0	1	0	22	34					T	28595713	C	T	28595713	3	4	435	1	0	0	0	0	1	0	0	0	14125	797	28	3	116	3	SESN2	1	28595713	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	310487	28595713	220654908	199	21124											
PHACTR4	65979	broad.mit.edu	37	chr1	28793151	28793151	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caccccttccccagcacccaGgactctgcctgctgctcctg	5	8	7	21	0	1	0	0	0	1	0	3	1	3	1	7	1	4	3	7	1	0	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:28793151G>T	ENST00000373839.3	+	6	956	c.695G>T	c.(694-696)aGg>aTg	p.R232M	PHACTR4_ENST00000493669.1_3'UTR|PHACTR4_ENST00000373836.3_Missense_Mutation_p.R242M	NM_001048183.1	NP_001041648.1	Q8IZ21	PHAR4_HUMAN	phosphatase and actin regulator 4	232	Pro-rich.				actin cytoskeleton organization (GO:0030036)|closure of optic fissure (GO:0061386)|enteric nervous system development (GO:0048484)|negative regulation of integrin-mediated signaling pathway (GO:2001045)|neural crest cell migration (GO:0001755)|neural tube closure (GO:0001843)|positive regulation of catalytic activity (GO:0043085)|regulation of cell cycle (GO:0051726)|Rho protein signal transduction (GO:0007266)	cytoplasm (GO:0005737)|lamellipodium (GO:0030027)	actin binding (GO:0003779)|protein phosphatase 1 binding (GO:0008157)|protein phosphatase type 1 activator activity (GO:0071862)			NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	32		Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;7.01e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)		OV - Ovarian serous cystadenocarcinoma(117;1.35e-21)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0144)|READ - Rectum adenocarcinoma(331;0.0649)		CCAGCACCCAGGACTCTGCCT	0.582																																						ENST00000373839.3																			0				NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	32						c.(694-696)aGg>aTg		phosphatase and actin regulator 4							55	64	61					1																	28793151		2109	4228	6337	SO:0001583	missense	65979						actin binding|protein phosphatase inhibitor activity	g.chr1:28793151G>T	AF130081	CCDS41293.1, CCDS41294.1	1p35.2	2014-06-13			ENSG00000204138	ENSG00000204138		"Phosphatase and actin regulators"	25793	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 124"	608726				11483580, 15107502	Standard	NM_023923		Approved	FLJ13171, PPP1R124	uc001bpy.3	Q8IZ21	OTTHUMG00000003541	ENST00000373839.3:c.695G>T	1.37:g.28793151G>T	ENSP00000362945:p.Arg232Met					PHACTR4_ENST00000493669.1_3'UTR|PHACTR4_ENST00000373836.3_Missense_Mutation_p.R242M	p.R232M	NM_001048183.1	NP_001041648.1	Q8IZ21	PHAR4_HUMAN		OV - Ovarian serous cystadenocarcinoma(117;1.35e-21)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0144)|READ - Rectum adenocarcinoma(331;0.0649)	6	956	+		Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;7.01e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)	232			Pro-rich.		A2APK6|B9ZVW0|D3DPM3|Q68DD4|Q6NUN6|Q8N384|Q9H395|Q9H6X0|Q9H8W6	Missense_Mutation	SNP	ENST00000373839.3	37	c.695G>T	CCDS41293.1	.	.	.	.	.	.	.	.	.	.	G	15.69	2.906934	0.52333	.	.	ENSG00000204138	ENST00000373839;ENST00000373836;ENST00000373838	T;T	0.26660	1.72;1.8	5.55	4.64	0.57946	.	0.165305	0.53938	D	0.000050	T	0.43299	0.1241	L	0.46157	1.445	0.46478	D	0.999062	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.996;0.997	T	0.31194	-0.9952	10	0.56958	D	0.05	-5.1548	13.1298	0.59375	0.0779:0.0:0.9221:0.0	.	242;232;216	Q8IZ21-2;Q8IZ21;Q8IZ21-3	.;PHAR4_HUMAN;.	M	232;242;231	ENSP00000362945:R232M;ENSP00000362942:R242M	ENSP00000362942:R242M	R	+	2	0	PHACTR4	28665738	1.000000	0.71417	1.000000	0.80357	0.260000	0.26232	3.090000	0.50191	1.348000	0.45733	0.561000	0.74099	AGG		0.582	PHACTR4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000009868.4	NM_023923		19	27	1	0	2.94398e-08	1	3.10271e-08	19	27					T	28793151	G	T	28793151	3	4	435	1	0	0	0	0	1	0	0	0	11812	1000	35	5	763	5	PHACTR4	1	28793151	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	197438	28793151	220457470	200	21125											
RCC1	1104	broad.mit.edu	37	chr1	28858370	28858370	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgctgacactaggccagggCgacgtgggccagctggggct	6	6	18	11	2	0	1	0	1	0	0	0	2	0	1	2	5	2	3	2	5	1	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:28858370C>T	ENST00000373833.6	+	6	414	c.129C>T	c.(127-129)ggC>ggT	p.G43G	RCC1_ENST00000373831.3_Silent_p.G74G|RCC1_ENST00000373832.1_Silent_p.G43G|RCC1_ENST00000398958.2_Silent_p.G43G			P18754	RCC1_HUMAN	regulator of chromosome condensation 1	43					chromosome segregation (GO:0007059)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic nuclear division (GO:0007067)|mitotic spindle organization (GO:0007052)|positive regulation of Ran GTPase activity (GO:0032853)|regulation of mitosis (GO:0007088)|spindle assembly (GO:0051225)|viral process (GO:0016032)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|histone binding (GO:0042393)|nucleosomal DNA binding (GO:0031492)|Ran guanyl-nucleotide exchange factor activity (GO:0005087)			breast(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)	14		Colorectal(325;3.46e-05)|Lung NSC(340;0.000318)|all_lung(284;0.000434)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.00989)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)|Medulloblastoma(700;0.123)		Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|STAD - Stomach adenocarcinoma(196;0.00299)|KIRC - Kidney renal clear cell carcinoma(1967;0.0101)|BRCA - Breast invasive adenocarcinoma(304;0.022)|READ - Rectum adenocarcinoma(331;0.0649)		TAGGCCAGGGCGACGTGGGCC	0.597																																						ENST00000373833.6																			0				breast(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)	14						c.(127-129)ggC>ggT		regulator of chromosome condensation 1							55	57	56					1																	28858370		2203	4300	6503	SO:0001819	synonymous_variant	1104				cell division|chromosome segregation|G1/S transition of mitotic cell cycle|mitosis|mitotic spindle organization|regulation of mitosis|regulation of S phase of mitotic cell cycle|spindle assembly|viral reproduction	condensed nuclear chromosome|cytoplasm|nuclear chromatin|nuclear membrane|nucleoplasm	histone binding|nucleosomal DNA binding|Ran guanyl-nucleotide exchange factor activity	g.chr1:28858370C>T	X12654	CCDS323.1, CCDS41295.1	1p35.3	2008-08-18	2005-05-09	2005-05-09	ENSG00000180198	ENSG00000180198			1913	protein-coding gene	gene with protein product		179710	"chromosome condensation 1"	CHC1		7851910	Standard	NM_001048199		Approved		uc001bqf.2	P18754	OTTHUMG00000003645	ENST00000373833.6:c.129C>T	1.37:g.28858370C>T						RCC1_ENST00000373832.1_Silent_p.G43G|RCC1_ENST00000398958.2_Silent_p.G43G|RCC1_ENST00000373831.3_Silent_p.G74G	p.G43G			P18754	RCC1_HUMAN		Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|STAD - Stomach adenocarcinoma(196;0.00299)|KIRC - Kidney renal clear cell carcinoma(1967;0.0101)|BRCA - Breast invasive adenocarcinoma(304;0.022)|READ - Rectum adenocarcinoma(331;0.0649)	6	414	+		Colorectal(325;3.46e-05)|Lung NSC(340;0.000318)|all_lung(284;0.000434)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.00989)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)|Medulloblastoma(700;0.123)	43					Q16269|Q6NT97	Silent	SNP	ENST00000373833.6	37	c.129C>T	CCDS323.1																																																																																				0.597	RCC1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010323.3	NM_001269		13	25	0	0	0	1	0	13	25					T	28858370	C	T	28858370	2	4	435	1	0	0	0	0	0	0	0	1	13173	755	27	1		1	RCC1	1	28858370	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	65219	28858370	220392251	201	21126											
TRNAU1AP	54952	broad.mit.edu	37	chr1	28891266	28891266	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accccggacgtggatgatggCatgctgtatgaattcttcgt	8	12	12	9	3	1	2	0	2	1	0	2	4	1	4	2	3	1	3	2	3	2	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:28891266C>T	ENST00000373830.3	+	5	356	c.330C>T	c.(328-330)ggC>ggT	p.G110G	TRNAU1AP_ENST00000495995.1_3'UTR	NM_017846.4	NP_060316.1	Q9NX07	TSAP1_HUMAN	tRNA selenocysteine 1 associated protein 1	110	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				selenocysteine incorporation (GO:0001514)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(2)|large_intestine(2)|ovary(1)|pancreas(1)|skin(1)	8						TGGATGATGGCATGCTGTATG	0.517																																						ENST00000373830.3																			0				breast(1)|endometrium(2)|large_intestine(2)|ovary(1)|pancreas(1)|skin(1)	8						c.(328-330)ggC>ggT		tRNA selenocysteine 1 associated protein 1							197	180	186					1																	28891266		2203	4300	6503	SO:0001819	synonymous_variant	54952				selenocysteine incorporation	cytoplasm|nucleus	nucleotide binding|RNA binding	g.chr1:28891266C>T		CCDS324.1	1p35.3	2013-02-12	2008-09-05	2008-09-05	ENSG00000180098	ENSG00000180098		"RNA binding motif (RRM) containing"	30813	protein-coding gene	gene with protein product			"tRNA selenocysteine associated protein 1"	TRSPAP1		10606267, 16230358	Standard	NM_017846		Approved	SECP43, FLJ20503	uc001bqi.3	Q9NX07	OTTHUMG00000003653	ENST00000373830.3:c.330C>T	1.37:g.28891266C>T						TRNAU1AP_ENST00000495995.1_3'UTR	p.G110G	NM_017846.4	NP_060316.1	Q9NX07	TSAP1_HUMAN			5	356	+			110			RRM 2.		Q86SU7	Silent	SNP	ENST00000373830.3	37	c.330C>T	CCDS324.1																																																																																				0.517	TRNAU1AP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010346.1	NM_017846		45	63	0	0	0	1	0	45	63					T	28891266	C	T	28891266	2	4	435	1	0	0	0	0	0	0	0	1	16569	697	25	3		3	TRNAU1AP	1	28891266	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	32896	28891266	220359355	202	21127											
YTHDF2	51441	broad.mit.edu	37	chr1	29069960	29069960	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cccagtgttggagaagcttcGgtccattaataactataacc	12	11	8	10	1	0	1	0	0	0	1	2	2	1	1	3	2	3	2	3	2	5	6			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:29069960G>A	ENST00000373812.3	+	4	1540	c.1178G>A	c.(1177-1179)cGg>cAg	p.R393Q	YTHDF2_ENST00000478283.1_3'UTR|YTHDF2_ENST00000541996.1_Missense_Mutation_p.R343Q|YTHDF2_ENST00000542507.1_Missense_Mutation_p.R393Q	NM_016258.2	NP_057342.2	Q9Y5A9	YTHD2_HUMAN	YTH domain family, member 2	393	Interaction with m6A-containing mRNAs.				humoral immune response (GO:0006959)|regulation of mRNA stability (GO:0043488)	cytoplasmic mRNA processing body (GO:0000932)	N6-methyladenosine-containing RNA binding (GO:1990247)|poly(A) RNA binding (GO:0044822)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Colorectal(325;3.46e-05)|Lung NSC(340;0.000601)|all_lung(284;0.000771)|Breast(348;0.00502)|Renal(390;0.00758)|all_neural(195;0.0227)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;5.46e-06)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0221)|KIRC - Kidney renal clear cell carcinoma(1967;0.0296)|READ - Rectum adenocarcinoma(331;0.0649)		GAGAAGCTTCGGTCCATTAAT	0.473																																						ENST00000373812.3																			0				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						c.(1177-1179)cGg>cAg		YTH domain family, member 2							74	72	73					1																	29069960		1893	4117	6010	SO:0001583	missense	51441				humoral immune response			g.chr1:29069960G>A	AF155095	CCDS41296.1, CCDS53287.1	1p35	2008-02-05	2004-11-16		ENSG00000198492	ENSG00000198492			31675	protein-coding gene	gene with protein product		610640	"YTH domain family 2"			10508479	Standard	NM_016258		Approved	HGRG8, NY-REN-2	uc021okf.1	Q9Y5A9	OTTHUMG00000003648	ENST00000373812.3:c.1178G>A	1.37:g.29069960G>A	ENSP00000362918:p.Arg393Gln					YTHDF2_ENST00000542507.1_Missense_Mutation_p.R393Q|YTHDF2_ENST00000541996.1_Missense_Mutation_p.R343Q|YTHDF2_ENST00000478283.1_3'UTR	p.R393Q	NM_016258.2	NP_057342.2	Q9Y5A9	YTHD2_HUMAN		Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;5.46e-06)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0221)|KIRC - Kidney renal clear cell carcinoma(1967;0.0296)|READ - Rectum adenocarcinoma(331;0.0649)	4	1540	+		Colorectal(325;3.46e-05)|Lung NSC(340;0.000601)|all_lung(284;0.000771)|Breast(348;0.00502)|Renal(390;0.00758)|all_neural(195;0.0227)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)	393					A6NKG4|A8K966|B4E1G7|D3DPM8|Q5VSZ9|Q8TDH0|Q9BUJ5	Missense_Mutation	SNP	ENST00000373812.3	37	c.1178G>A	CCDS41296.1	.	.	.	.	.	.	.	.	.	.	G	14.89	2.670271	0.47677	.	.	ENSG00000198492	ENST00000542507;ENST00000373812;ENST00000541996;ENST00000396232	T;T;T	0.23348	1.92;1.92;1.91	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	T	0.23370	0.0565	L	0.52573	1.65	0.53005	D	0.999962	B;B	0.30563	0.285;0.285	B;B	0.26693	0.072;0.072	T	0.02326	-1.1176	9	.	.	.	.	12.4068	0.55445	0.0775:0.0:0.9225:0.0	.	393;393	B5BU99;Q9Y5A9	.;YTHD2_HUMAN	Q	393;393;343;393	ENSP00000444660:R393Q;ENSP00000362918:R393Q;ENSP00000439394:R343Q	.	R	+	2	0	YTHDF2	28942547	1.000000	0.71417	0.998000	0.56505	0.977000	0.68977	5.796000	0.69080	2.802000	0.96397	0.655000	0.94253	CGG		0.473	YTHDF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010335.1	NM_016258		46	49	0	0	0	1	0	46	49					A	29069960	G	A	29069960	3	1	435	1	0	0	0	0	1	0	0	0	17496	1116	39	2	1192	2	YTHDF2	1	29069960	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	178694	29069960	220180661	203	21128											
OPRD1	4985	broad.mit.edu	37	chr1	29189256	29189256	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cttgtttccgcggcccagacGgggcagtggtgtgcatgctc	4	10	15	12	3	0	1	0	0	0	1	2	1	1	1	2	4	2	4	2	4	0	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:29189256G>A	ENST00000234961.2	+	3	822	c.580G>A	c.(580-582)Ggg>Agg	p.G194R		NM_000911.3	NP_000902.3	P41143	OPRD_HUMAN	opioid receptor, delta 1	194					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adult locomotory behavior (GO:0008344)|cellular response to growth factor stimulus (GO:0071363)|cellular response to hypoxia (GO:0071456)|cellular response to toxic substance (GO:0097237)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|immune response (GO:0006955)|negative regulation of gene expression (GO:0010629)|negative regulation of protein oligomerization (GO:0032460)|neuropeptide signaling pathway (GO:0007218)|opioid receptor signaling pathway (GO:0038003)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein import into nucleus, translocation (GO:0000060)|regulation of calcium ion transport (GO:0051924)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of sensory perception of pain (GO:0051930)	axon terminus (GO:0043679)|cytoplasm (GO:0005737)|dendrite membrane (GO:0032590)|integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|vesicle (GO:0031982)	enkephalin receptor activity (GO:0038046)|opioid receptor activity (GO:0004985)			breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15		Colorectal(325;3.46e-05)|Lung NSC(340;0.000947)|all_lung(284;0.00131)|Renal(390;0.00758)|Breast(348;0.00765)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;1.29e-07)|COAD - Colon adenocarcinoma(152;7.51e-06)|STAD - Stomach adenocarcinoma(196;0.00306)|BRCA - Breast invasive adenocarcinoma(304;0.0241)|READ - Rectum adenocarcinoma(331;0.0649)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)	Alvimopan(DB06274)|Amitriptyline(DB00321)|Buprenorphine(DB00921)|Butorphanol(DB00611)|Codeine(DB00318)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Diphenoxylate(DB01081)|Fentanyl(DB00813)|Heroin(DB01452)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Ketamine(DB01221)|Ketobemidone(DB06738)|Levorphanol(DB00854)|Loperamide(DB00836)|Methadone(DB00333)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Oxycodone(DB00497)|Oxymorphone(DB01192)|Remifentanil(DB00899)|Sufentanil(DB00708)|Tapentadol(DB06204)|Tramadol(DB00193)	CGGCCCAGACGGGGCAGTGGT	0.632																																						ENST00000234961.2																			0				breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						c.(580-582)Ggg>Agg		opioid receptor, delta 1	Butorphanol(DB00611)|Codeine(DB00318)|Fentanyl(DB00813)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Loperamide(DB00836)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Oxycodone(DB00497)|Pimozide(DB01100)|Propoxyphene(DB00647)						86	65	72					1																	29189256		2203	4300	6503	SO:0001583	missense	4985				immune response|protein import into nucleus, translocation	integral to plasma membrane	delta-opioid receptor activity|protein binding	g.chr1:29189256G>A	U10504	CCDS329.1	1p36.1-p34.3	2012-08-08			ENSG00000116329	ENSG00000116329		"GPCR / Class A : Opioid receptors"	8153	protein-coding gene	gene with protein product		165195				8415697	Standard	NM_000911		Approved		uc001brf.1	P41143	OTTHUMG00000003646	ENST00000234961.2:c.580G>A	1.37:g.29189256G>A	ENSP00000234961:p.Gly194Arg						p.G194R	NM_000911.3	NP_000902.3	P41143	OPRD_HUMAN		Colorectal(126;1.29e-07)|COAD - Colon adenocarcinoma(152;7.51e-06)|STAD - Stomach adenocarcinoma(196;0.00306)|BRCA - Breast invasive adenocarcinoma(304;0.0241)|READ - Rectum adenocarcinoma(331;0.0649)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)	3	822	+		Colorectal(325;3.46e-05)|Lung NSC(340;0.000947)|all_lung(284;0.00131)|Renal(390;0.00758)|Breast(348;0.00765)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)	194					B5B0B8	Missense_Mutation	SNP	ENST00000234961.2	37	c.580G>A	CCDS329.1	.	.	.	.	.	.	.	.	.	.	G	13.52	2.262840	0.39995	.	.	ENSG00000116329	ENST00000234961;ENST00000536280	T	0.71341	-0.56	4.05	4.05	0.47172	GPCR, rhodopsin-like superfamily (1);	0.062190	0.64402	D	0.000003	T	0.80701	0.4673	M	0.87547	2.89	0.27327	N	0.956879	D	0.58970	0.984	P	0.53035	0.716	T	0.76211	-0.3042	10	0.49607	T	0.09	.	13.7575	0.62946	0.0:0.0:1.0:0.0	.	194	P41143	OPRD_HUMAN	R	194	ENSP00000234961:G194R	ENSP00000234961:G194R	G	+	1	0	OPRD1	29061843	1.000000	0.71417	0.438000	0.26821	0.302000	0.27658	5.047000	0.64232	2.093000	0.63338	0.462000	0.41574	GGG		0.632	OPRD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010330.1	NM_000911		8	15	0	0	0	1	0	8	15					A	29189256	G	A	29189256	3	1	435	1	0	0	0	0	1	0	0	0	10884	1116	39	2	590	2	OPRD1	1	29189256	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	119296	29189256	220061365	204	21129											
EPB41	2035	broad.mit.edu	37	chr1	29362427	29362427	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtctgtgtagaacatcacacGtttttcaggtattattctca	10	16	7	8	1	4	1	3	0	2	1	5	1	4	1	0	1	1	3	0	1	4	6			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:29362427G>A	ENST00000343067.4	+	10	1582	c.1455G>A	c.(1453-1455)acG>acA	p.T485T	EPB41_ENST00000356093.2_Silent_p.T485T|EPB41_ENST00000373798.1_Silent_p.T485T|EPB41_ENST00000347529.3_Silent_p.T450T|EPB41_ENST00000373797.1_Silent_p.T485T|EPB41_ENST00000373800.3_Silent_p.T276T|EPB41_ENST00000398863.2_Silent_p.T485T|EPB41_ENST00000349460.4_Silent_p.T276T	NM_001166005.1	NP_001159477.1	P11171	41_HUMAN	erythrocyte membrane protein band 4.1	485	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				actin cytoskeleton organization (GO:0030036)|blood circulation (GO:0008015)|cortical actin cytoskeleton organization (GO:0030866)|positive regulation of protein binding (GO:0032092)	cortical cytoskeleton (GO:0030863)|extrinsic component of membrane (GO:0019898)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	1-phosphatidylinositol binding (GO:0005545)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|urinary_tract(1)	14		Colorectal(325;3.46e-05)|Prostate(1639;0.000244)|Lung NSC(340;0.00328)|all_lung(284;0.00412)|Breast(348;0.00765)|all_neural(195;0.0199)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)|Medulloblastoma(700;0.123)		Colorectal(126;3.12e-07)|COAD - Colon adenocarcinoma(152;1.21e-05)|STAD - Stomach adenocarcinoma(196;0.00395)|KIRC - Kidney renal clear cell carcinoma(1967;0.0249)|BRCA - Breast invasive adenocarcinoma(304;0.0289)|READ - Rectum adenocarcinoma(331;0.0757)		AACATCACACGTTTTTCAGGT	0.323																																						ENST00000343067.4																			0				NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|urinary_tract(1)	14						c.(1453-1455)acG>acA		erythrocyte membrane protein band 4.1 (elliptocytosis 1, RH-linked)							100	96	97					1																	29362427		2203	4300	6503	SO:0001819	synonymous_variant	2035				blood circulation|cortical actin cytoskeleton organization|positive regulation of protein binding	extrinsic to membrane|Golgi apparatus|nucleus|plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	1-phosphatidylinositol binding|actin binding|spectrin binding|structural constituent of cytoskeleton	g.chr1:29362427G>A	BC039079	CCDS330.1, CCDS331.1, CCDS332.1, CCDS53288.1, CCDS53289.1	1p33-p32	2014-05-09	2014-05-09		ENSG00000159023	ENSG00000159023			3377	protein-coding gene	gene with protein product		130500	"elliptocytosis 1, RH-linked"	EL1			Standard	NM_001166005		Approved	4.1R	uc001brm.2	P11171	OTTHUMG00000003644	ENST00000343067.4:c.1455G>A	1.37:g.29362427G>A						EPB41_ENST00000349460.4_Silent_p.T276T|EPB41_ENST00000347529.3_Silent_p.T450T|EPB41_ENST00000356093.2_Silent_p.T485T|EPB41_ENST00000373800.3_Silent_p.T276T|EPB41_ENST00000373798.1_Silent_p.T485T|EPB41_ENST00000398863.2_Silent_p.T485T|EPB41_ENST00000373797.1_Silent_p.T485T	p.T485T	NM_001166005.1	NP_001159477.1	P11171	41_HUMAN		Colorectal(126;3.12e-07)|COAD - Colon adenocarcinoma(152;1.21e-05)|STAD - Stomach adenocarcinoma(196;0.00395)|KIRC - Kidney renal clear cell carcinoma(1967;0.0249)|BRCA - Breast invasive adenocarcinoma(304;0.0289)|READ - Rectum adenocarcinoma(331;0.0757)	10	1582	+		Colorectal(325;3.46e-05)|Prostate(1639;0.000244)|Lung NSC(340;0.00328)|all_lung(284;0.00412)|Breast(348;0.00765)|all_neural(195;0.0199)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)|Medulloblastoma(700;0.123)	485			FERM.		B1ALH8|B1ALH9|D3DPM9|D3DPN0|P11176|Q14245|Q5TB35|Q5VXN8|Q8IXV9|Q9Y578|Q9Y579	Silent	SNP	ENST00000343067.4	37	c.1455G>A	CCDS53288.1																																																																																				0.323	EPB41-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010312.1	NM_203342		18	28	0	0	0	1	0	18	28					A	29362427	G	A	29362427	2	1	435	1	0	0	0	0	0	0	0	1	5151	1132	40	1		1	EPB41	1	29362427	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	173171	29362427	219888194	205	21130											
SFRS4	6429	broad.mit.edu	37	chr1	29475269	29475269	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gctgtctcgcttgctgcctcGctttctgctcctctcactct	1	16	7	17	2	4	0	1	0	4	0	8	0	5	0	2	0	3	5	2	0	0	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:29475269G>A	ENST00000373795.4	-	6	1372	c.1138C>T	c.(1138-1140)Cga>Tga	p.R380*	SRSF4_ENST00000466448.1_5'UTR|SRSF4_ENST00000546138.1_3'UTR|RP11-242O24.3_ENST00000413004.1_lincRNA	NM_005626.4	NP_005617.2	Q08170	SRSF4_HUMAN	serine/arginine-rich splicing factor 4	380	Arg/Ser-rich (RS domain).				gene expression (GO:0010467)|hematopoietic progenitor cell differentiation (GO:0002244)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.R380*(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(1)	27						ttgctgcctcgctttctgctc	0.592																																						ENST00000373795.4																			1	Substitution - Nonsense(1)	p.R380*(1)	large_intestine(1)	breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(1)	27						c.(1138-1140)Cga>Tga		serine/arginine-rich splicing factor 4							55	54	54					1																	29475269		2203	4300	6503	SO:0001587	stop_gained	6429				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nuclear speck	nucleotide binding|RNA binding	g.chr1:29475269G>A	BC002781	CCDS333.1	1p35.3	2013-02-12	2010-06-22	2010-06-22	ENSG00000116350	ENSG00000116350		"Serine/arginine-rich splicing factors", "RNA binding motif (RRM) containing"	10786	protein-coding gene	gene with protein product	"SR splicing factor 4"	601940	"splicing factor, arginine/serine-rich 4"	SFRS4		8321209, 20516191	Standard	NM_005626		Approved	SRP75	uc001bro.3	Q08170	OTTHUMG00000003663	ENST00000373795.4:c.1138C>T	1.37:g.29475269G>A	ENSP00000362900:p.Arg380*					SRSF4_ENST00000466448.1_5'UTR|SRSF4_ENST00000546138.1_3'UTR	p.R380*	NM_005626.4	NP_005617.2	Q08170	SRSF4_HUMAN			6	1372	-			380			Arg/Ser-rich (RS domain).		Q5VXP1|Q9BUA4|Q9UEB5	Nonsense_Mutation	SNP	ENST00000373795.4	37	c.1138C>T	CCDS333.1	.	.	.	.	.	.	.	.	.	.	G	25.2	4.612847	0.87258	.	.	ENSG00000116350	ENST00000373795;ENST00000434636	.	.	.	5.72	5.72	0.89469	.	0.442863	0.22949	N	0.053682	.	.	.	.	.	.	0.26382	N	0.976728	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.4435	0.61127	0.0:0.0:0.8433:0.1567	.	.	.	.	X	380	.	ENSP00000362900:R380X	R	-	1	2	SRSF4	29347856	0.617000	0.27043	0.011000	0.14972	0.946000	0.59487	2.315000	0.43752	2.691000	0.91804	0.655000	0.94253	CGA		0.592	SRSF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010392.1	NM_005626		15	28	0	0	0	1	0	15	28					A	29475269	G	A	29475269	4	1	435	1	0	0	0	0	0	1	0	0	14179	1095	38	1	350	1	SFRS4	1	29475269	Nonsense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	112842	29475269	219775352	206	21131											
PTPRU	10076	broad.mit.edu	37	chr1	29618458	29618458	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gatgagcgccgtggaccgcaGcttcacagaccagagcaccc	10	4	12	15	3	1	3	1	1	0	2	1	5	1	4	4	1	3	3	4	1	0	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:29618458G>A	ENST00000345512.3	+	16	2555	c.2426G>A	c.(2425-2427)aGc>aAc	p.S809N	PTPRU_ENST00000356870.3_Missense_Mutation_p.S799N|PTPRU_ENST00000323874.8_Missense_Mutation_p.S799N|PTPRU_ENST00000373779.3_Missense_Mutation_p.S799N|PTPRU_ENST00000460170.2_Missense_Mutation_p.S799N|PTPRU_ENST00000428026.2_Missense_Mutation_p.S799N|PTPRU_ENST00000415600.2_3'UTR	NM_005704.4	NP_005695.3	Q92729	PTPRU_HUMAN	protein tyrosine phosphatase, receptor type, U	809	Mediates interaction with CTNNB1. {ECO:0000250}.				canonical Wnt signaling pathway (GO:0060070)|cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|homotypic cell-cell adhesion (GO:0034109)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|organ regeneration (GO:0031100)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|protein localization to cell surface (GO:0034394)|response to glucocorticoid (GO:0051384)|single organismal cell-cell adhesion (GO:0016337)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	cell-cell junction (GO:0005911)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(4)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(26)|ovary(1)|prostate(3)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	79		Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871)		GTGGACCGCAGCTTCACAGAC	0.642																																						ENST00000356870.3																			0				breast(4)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(26)|ovary(1)|prostate(3)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	79						c.(2395-2397)aGc>aAc		protein tyrosine phosphatase, receptor type, U							82	71	74					1																	29618458		2203	4300	6503	SO:0001583	missense	10076				canonical Wnt receptor signaling pathway|cell differentiation|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transmembrane receptor protein tyrosine phosphatase signaling pathway	cell-cell junction|integral to plasma membrane	beta-catenin binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr1:29618458G>A	U71075	CCDS334.1, CCDS335.1, CCDS44098.1, CCDS44098.2, CCDS53290.1	1p35.3	2013-02-11			ENSG00000060656	ENSG00000060656		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Fibronectin type III domain containing"	9683	protein-coding gene	gene with protein product	"pi R-PTP-Psi"	602454				8700514, 9434160	Standard	NM_133178		Approved	PTPRO, hPTP-J, PCP-2, FMI, PTP	uc001bru.3	Q92729	OTTHUMG00000003699	ENST00000345512.3:c.2426G>A	1.37:g.29618458G>A	ENSP00000334941:p.Ser809Asn					PTPRU_ENST00000460170.2_Missense_Mutation_p.S799N|PTPRU_ENST00000323874.8_Missense_Mutation_p.S799N|PTPRU_ENST00000345512.3_Missense_Mutation_p.S809N|PTPRU_ENST00000415600.2_3'UTR|PTPRU_ENST00000428026.2_Missense_Mutation_p.S799N|PTPRU_ENST00000373779.3_Missense_Mutation_p.S799N	p.S799N	NM_133177.3	NP_573438.3	Q92729	PTPRU_HUMAN		Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871)	15	2506	+		Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)	809			Mediates interaction with CTNNB1 (By similarity).		A6H8L1|O00197|P78399|Q59HA4|Q5SYU4|Q5SYU5|Q92735|Q92850	Missense_Mutation	SNP	ENST00000345512.3	37	c.2396G>A	CCDS334.1	.	.	.	.	.	.	.	.	.	.	G	26.6	4.750287	0.89753	.	.	ENSG00000060656	ENST00000345512;ENST00000373779;ENST00000356870;ENST00000323874;ENST00000428026;ENST00000460170	T;T;T;T;T;T	0.37058	1.31;1.27;1.27;1.27;1.22;1.27	4.99	4.99	0.66335	.	0.000000	0.85682	D	0.000000	T	0.44519	0.1297	M	0.66939	2.045	0.50813	D	0.999891	P;P;P;P;P	0.43352	0.804;0.799;0.804;0.698;0.704	P;P;P;B;B	0.45558	0.485;0.466;0.485;0.201;0.272	T	0.37731	-0.9693	9	.	.	.	.	15.8259	0.78706	0.0:0.0:1.0:0.0	.	799;799;799;799;809	Q92729-3;Q92729-4;Q92729-2;E9PH42;Q92729	.;.;.;.;PTPRU_HUMAN	N	809;799;799;799;799;799	ENSP00000334941:S809N;ENSP00000362884:S799N;ENSP00000349333:S799N;ENSP00000314987:S799N;ENSP00000392332:S799N;ENSP00000432906:S799N	.	S	+	2	0	PTPRU	29491045	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	9.451000	0.97610	2.477000	0.83638	0.655000	0.94253	AGC		0.642	PTPRU-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010447.1			20	25	0	0	0	1	0	20	25					A	29618458	G	A	29618458	3	1	435	1	0	0	0	0	1	0	0	0	12813	971	34	3	2488	3	PTPRU	1	29618458	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	143189	29618458	219632163	207	21132											
PUM1	9698	broad.mit.edu	37	chr1	31426567	31426567	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	agccaagtactcacctggacCcatgctggtcttgggaaaat	11	9	10	11	0	2	0	1	0	1	0	2	2	2	2	3	3	3	2	3	3	4	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:31426567C>T	ENST00000257075.5	-	15	2678	c.2585G>A	c.(2584-2586)gGg>gAg	p.G862E	PUM1_ENST00000424085.2_Missense_Mutation_p.G620E|PUM1_ENST00000373742.2_Missense_Mutation_p.G803E|PUM1_ENST00000426105.2_Missense_Mutation_p.G862E|PUM1_ENST00000373747.3_Missense_Mutation_p.G863E|PUM1_ENST00000373741.4_Missense_Mutation_p.G898E|PUM1_ENST00000423018.2_Missense_Mutation_p.G718E|PUM1_ENST00000440538.2_Missense_Mutation_p.G836E	NM_014676.2	NP_055491.1	Q14671	PUM1_HUMAN	pumilio RNA-binding family member 1	862	PUM-HD. {ECO:0000255|PROSITE- ProRule:PRU00318}.				membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of translation (GO:0006417)	cytosol (GO:0005829)	poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(17)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	48		Colorectal(325;0.0211)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0381)|Breast(348;0.0848)|Medulloblastoma(700;0.123)		STAD - Stomach adenocarcinoma(196;0.0232)|READ - Rectum adenocarcinoma(331;0.0681)		TCACCTGGACCCATGCTGGTC	0.433																																						ENST00000373747.3																			0				breast(1)|central_nervous_system(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(17)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						c.(2587-2589)gGg>gAg		pumilio RNA-binding family member 1							113	123	119					1																	31426567		2203	4300	6503	SO:0001583	missense	9698				cellular membrane organization|post-Golgi vesicle-mediated transport|regulation of translation	cytosol	RNA binding	g.chr1:31426567C>T	AF315592	CCDS338.1, CCDS44099.1	1p35.2	2013-09-02	2013-09-02		ENSG00000134644	ENSG00000134644			14957	protein-coding gene	gene with protein product		607204	"pumilio (Drosophila) homolog 1", "pumilio homolog 1 (Drosophila)"				Standard	NM_001020658		Approved	PUMH1, KIAA0099	uc001bsh.1	Q14671	OTTHUMG00000003795	ENST00000257075.5:c.2585G>A	1.37:g.31426567C>T	ENSP00000257075:p.Gly862Glu					PUM1_ENST00000373742.2_Missense_Mutation_p.G803E|PUM1_ENST00000257075.5_Missense_Mutation_p.G862E|PUM1_ENST00000373741.4_Missense_Mutation_p.G898E|PUM1_ENST00000424085.2_Missense_Mutation_p.G620E|PUM1_ENST00000440538.2_Missense_Mutation_p.G836E|PUM1_ENST00000426105.2_Missense_Mutation_p.G862E|PUM1_ENST00000423018.2_Missense_Mutation_p.G718E	p.G863E	NM_001020658.1	NP_001018494.1	Q14671	PUM1_HUMAN		STAD - Stomach adenocarcinoma(196;0.0232)|READ - Rectum adenocarcinoma(331;0.0681)	15	2687	-		Colorectal(325;0.0211)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0381)|Breast(348;0.0848)|Medulloblastoma(700;0.123)	862			PUM-HD.		A8K6W4|B4DG92|D3DPN3|E9PCJ0|Q53HH5|Q5VXY7|Q9HAN1	Missense_Mutation	SNP	ENST00000257075.5	37	c.2588G>A	CCDS338.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	C|C|C	31|31|31	5.063592|5.063592|5.063592	0.93898|0.93898|0.93898	.|.|.	.|.|.	ENSG00000134644|ENSG00000134644|ENSG00000134644	ENST00000424085;ENST00000257075;ENST00000373747;ENST00000373749;ENST00000426105;ENST00000440538;ENST00000373741;ENST00000423018;ENST00000373742;ENST00000529846|ENST00000525997|ENST00000525843;ENST00000498419	T;T;T;T;T;T;T;T;T|T|.	0.18502|0.17528|.	2.21;2.21;2.21;2.21;2.21;2.21;2.21;2.21;2.21|2.27|.	5.78|5.78|5.78	5.78|5.78|5.78	0.91487|0.91487|0.91487	Armadillo-like helical (1);Armadillo-type fold (1);|.|.	0.000000|0.000000|.	0.85682|0.85682|.	D|D|.	0.000000|0.000000|.	D|D|.	0.91968|0.91968|.	0.7456|0.7456|.	H|H|H	0.99516|0.99516|0.99516	4.605|4.605|4.605	0.80722|0.80722|0.80722	D|D|D	1|1|1	D;D;D;D;D;D;D;D|.|.	0.89917|.|.	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0|.|.	D;D;D;D;D;D;D;D|.|.	0.97110|.|.	1.0;1.0;0.999;1.0;1.0;1.0;1.0;1.0|.|.	D|D|.	0.95047|0.95047|.	0.8183|0.8183|.	10|8|.	0.87932|0.87932|.	D|D|.	0|0|.	-7.1181|-7.1181|-7.1181	19.5973|19.5973|19.5973	0.95546|0.95546|0.95546	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.|.	803;718;898;836;862;862;863;862|.|.	B4DG92;E7EWT3;Q5T1Z8;Q14671-2;Q14671;E9PCJ0;Q5T1Z4;Q53HH5|.|.	.;.;.;.;PUM1_HUMAN;.;.;.|.|.	E|S|X	620;862;863;600;862;836;898;718;803;13|9|800;573	ENSP00000400141:G620E;ENSP00000257075:G862E;ENSP00000362852:G863E;ENSP00000391723:G862E;ENSP00000401777:G836E;ENSP00000362846:G898E;ENSP00000399440:G718E;ENSP00000362847:G803E;ENSP00000431213:G13E|ENSP00000433373:G9S|.	ENSP00000257075:G862E|ENSP00000433373:G9S|.	G|G|W	-|-|-	2|1|3	0|0|0	PUM1|PUM1|PUM1	31199154|31199154|31199154	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.989000|0.989000|0.989000	0.77384|0.77384|0.77384	7.818000|7.818000|7.818000	0.86416|0.86416|0.86416	2.738000|2.738000|2.738000	0.93877|0.93877|0.93877	0.655000|0.655000|0.655000	0.94253|0.94253|0.94253	GGG|GGT|TGG		0.433	PUM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000010671.1			22	128	0	0	0	1	0	22	128					T	31426567	C	T	31426567	3	4	435	1	0	0	0	0	1	0	0	0	12825	623	22	3	1013	3	PUM1	1	31426567	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	1808109	31426567	217824054	208	21133											
SNRNP40	9410	broad.mit.edu	37	chr1	31734425	31734425	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tcattgatggagccagcatgGccgggcagcttatacaatat	11	10	11	9	1	1	1	1	1	0	0	1	2	1	2	2	3	4	3	2	3	4	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:31734425G>A	ENST00000263694.4	-	9	993	c.975C>T	c.(973-975)ggC>ggT	p.G325G	SNRNP40_ENST00000373720.3_Silent_p.G95G|SNRNP40_ENST00000446633.2_Silent_p.G325G|SNRNP40_ENST00000489853.1_5'UTR	NM_004814.2	NP_004805.2	Q96DI7	SNR40_HUMAN	small nuclear ribonucleoprotein 40kDa (U5)	325					gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|small nucleolar ribonucleoprotein complex (GO:0005732)|U5 snRNP (GO:0005682)	poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(1)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)	7						AGCCAGCATGGCCGGGCAGCT	0.498																																						ENST00000263694.4																			0				breast(1)|endometrium(1)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)	7						c.(973-975)ggC>ggT		small nuclear ribonucleoprotein 40kDa (U5)							84	75	78					1																	31734425		2203	4300	6503	SO:0001819	synonymous_variant	9410					catalytic step 2 spliceosome|cytoplasm|nucleoplasm|small nucleolar ribonucleoprotein complex|U5 snRNP	protein binding	g.chr1:31734425G>A	AF090988	CCDS340.1	1p35.2	2013-01-09	2008-10-29	2008-10-29	ENSG00000060688	ENSG00000060688		"WD repeat domain containing"	30857	protein-coding gene	gene with protein product		607797	"WD repeat domain 57 (U5 snRNP specific)"	WDR57		9774689, 9731529, 10788320	Standard	NM_004814		Approved	PRP8BP, SPF38, PRPF8BP, HPRP8BP	uc009vtt.3	Q96DI7	OTTHUMG00000003790	ENST00000263694.4:c.975C>T	1.37:g.31734425G>A						SNRNP40_ENST00000373720.3_Silent_p.G95G|SNRNP40_ENST00000489853.1_5'UTR|SNRNP40_ENST00000446633.2_Silent_p.G325G	p.G325G	NM_004814.2	NP_004805.2	Q96DI7	SNR40_HUMAN			9	993	-			325					B4DQJ1|O75938|O95320	Silent	SNP	ENST00000263694.4	37	c.975C>T	CCDS340.1																																																																																				0.498	SNRNP40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010657.1	NM_004814		4	44	0	0	0	1	0	4	44					A	31734425	G	A	31734425	2	1	435	1	0	0	0	0	0	0	0	1	14856	1190	42	3		3	SNRNP40	1	31734425	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	307858	31734425	217516196	209	21134											
SNRNP40	9410	broad.mit.edu	37	chr1	31744302	31744302	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ccagtcactgaatctgcatgGcctctcatggtgtaggttag	8	12	11	10	0	3	1	2	1	2	0	4	1	3	1	2	3	1	3	2	3	3	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:31744302G>A	ENST00000263694.4	-	6	717	c.699C>T	c.(697-699)ggC>ggT	p.G233G	SNRNP40_ENST00000373720.3_5'Flank|SNRNP40_ENST00000446633.2_Silent_p.G233G|SNRNP40_ENST00000489853.1_5'UTR	NM_004814.2	NP_004805.2	Q96DI7	SNR40_HUMAN	small nuclear ribonucleoprotein 40kDa (U5)	233					gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|small nucleolar ribonucleoprotein complex (GO:0005732)|U5 snRNP (GO:0005682)	poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(1)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)	7						AATCTGCATGGCCTCTCATGG	0.438																																						ENST00000263694.4																			0				breast(1)|endometrium(1)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)	7						c.(697-699)ggC>ggT		small nuclear ribonucleoprotein 40kDa (U5)							79	80	80					1																	31744302		2203	4300	6503	SO:0001819	synonymous_variant	9410					catalytic step 2 spliceosome|cytoplasm|nucleoplasm|small nucleolar ribonucleoprotein complex|U5 snRNP	protein binding	g.chr1:31744302G>A	AF090988	CCDS340.1	1p35.2	2013-01-09	2008-10-29	2008-10-29	ENSG00000060688	ENSG00000060688		"WD repeat domain containing"	30857	protein-coding gene	gene with protein product		607797	"WD repeat domain 57 (U5 snRNP specific)"	WDR57		9774689, 9731529, 10788320	Standard	NM_004814		Approved	PRP8BP, SPF38, PRPF8BP, HPRP8BP	uc009vtt.3	Q96DI7	OTTHUMG00000003790	ENST00000263694.4:c.699C>T	1.37:g.31744302G>A						SNRNP40_ENST00000489853.1_5'UTR|SNRNP40_ENST00000446633.2_Silent_p.G233G	p.G233G	NM_004814.2	NP_004805.2	Q96DI7	SNR40_HUMAN			6	717	-			233					B4DQJ1|O75938|O95320	Silent	SNP	ENST00000263694.4	37	c.699C>T	CCDS340.1																																																																																				0.438	SNRNP40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010657.1	NM_004814		26	48	0	0	0	1	0	26	48					A	31744302	G	A	31744302	2	1	435	1	0	0	0	0	0	0	0	1	14856	1190	42	3		3	SNRNP40	1	31744302	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	9877	31744302	217506319	210	21135											
COL16A1	1307	broad.mit.edu	37	chr1	32127982	32127982	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atccaaaccatccagaccggCggggccctggaaacaggaaa	14	3	11	13	2	0	1	0	0	0	1	2	3	2	3	5	5	2	0	5	5	3	0	rs542852379		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:32127982C>T	ENST00000373672.3	-	58	4150	c.3634G>A	c.(3634-3636)Gcc>Acc	p.A1212T	RP11-73M7.6_ENST00000593188.1_RNA|RP11-73M7.6_ENST00000610216.1_RNA|RP11-73M7.6_ENST00000591929.1_RNA|RP11-73M7.6_ENST00000608332.1_RNA|RP11-73M7.6_ENST00000588288.1_RNA|RP11-73M7.6_ENST00000608246.1_RNA|RP11-73M7.6_ENST00000589462.1_RNA|RP11-73M7.6_ENST00000610043.1_RNA|RP11-73M7.6_ENST00000585660.1_RNA|RP11-73M7.6_ENST00000608888.1_RNA|RP11-73M7.6_ENST00000587445.1_RNA|RP11-73M7.6_ENST00000609549.1_RNA|COL16A1_ENST00000271069.6_Missense_Mutation_p.A1212T|RP11-73M7.6_ENST00000591592.1_RNA|RP11-73M7.6_ENST00000609373.1_RNA|RP11-73M7.6_ENST00000607926.1_RNA|RP11-73M7.6_ENST00000609033.1_RNA|RP11-73M7.6_ENST00000609625.1_RNA|RP11-73M7.6_ENST00000445166.1_RNA|RP11-73M7.6_ENST00000585413.1_RNA|RP11-73M7.6_ENST00000609338.1_RNA	NM_001856.3	NP_001847.3	Q07092	COGA1_HUMAN	collagen, type XVI, alpha 1	1212	Triple-helical region 2 (COL2) with 2 imperfections.				cell adhesion (GO:0007155)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|female pregnancy (GO:0007565)|integrin-mediated signaling pathway (GO:0007229)	collagen type XVI trimer (GO:0005597)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	integrin binding (GO:0005178)			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(15)|ovary(8)|prostate(4)	48		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0423)|all_neural(195;0.0837)|Breast(348;0.116)		STAD - Stomach adenocarcinoma(196;0.059)		TCCAGACCGGCGGGGCCCTGG	0.627													C|||	1	0.000199681	0	0	5008	,	,		14219	0		0	False		,,,				2504	0.001				Colon(143;498 1786 21362 25193 36625)	ENST00000373672.3																			0				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(15)|ovary(8)|prostate(4)	48						c.(3634-3636)Gcc>Acc		collagen, type XVI, alpha 1							34	37	36					1																	32127982		1922	4124	6046	SO:0001583	missense	1307				cell adhesion|female pregnancy|integrin-mediated signaling pathway	collagen type XVI	integrin binding|structural molecule activity	g.chr1:32127982C>T	M92642	CCDS41297.1	1p35-p34	2013-01-16			ENSG00000084636	ENSG00000084636		"Collagens"	2193	protein-coding gene	gene with protein product		120326				1631157	Standard	NM_001856		Approved		uc001btk.1	Q07092	OTTHUMG00000003883	ENST00000373672.3:c.3634G>A	1.37:g.32127982C>T	ENSP00000362776:p.Ala1212Thr					COL16A1_ENST00000271069.6_Missense_Mutation_p.A1212T	p.A1212T	NM_001856.3	NP_001847.3	Q07092	COGA1_HUMAN		STAD - Stomach adenocarcinoma(196;0.059)	58	4150	-		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0423)|all_neural(195;0.0837)|Breast(348;0.116)	1212			Triple-helical region 2 (COL2) with 2 imperfections.		Q16593|Q59F89|Q71RG9	Missense_Mutation	SNP	ENST00000373672.3	37	c.3634G>A	CCDS41297.1	.	.	.	.	.	.	.	.	.	.	C	8.359	0.832734	0.16820	.	.	ENSG00000084636	ENST00000373672;ENST00000271069;ENST00000440437	D;D;D	0.93604	-3.21;-3.21;-3.25	4.82	2.93	0.34026	.	0.213234	0.40818	N	0.001008	D	0.82889	0.5135	N	0.20766	0.605	0.23113	N	0.998274	B;B	0.27117	0.105;0.168	B;B	0.16722	0.007;0.016	T	0.67569	-0.5637	10	0.12103	T	0.63	.	5.9864	0.19436	0.0:0.5694:0.2583:0.1723	.	1212;1210	Q07092;Q07092-2	COGA1_HUMAN;.	T	1212;1212;69	ENSP00000362776:A1212T;ENSP00000271069:A1212T;ENSP00000390281:A69T	ENSP00000271069:A1212T	A	-	1	0	COL16A1	31900569	0.985000	0.35326	0.017000	0.16124	0.175000	0.22909	2.468000	0.45102	0.558000	0.29135	0.462000	0.41574	GCC		0.627	COL16A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011057.2	NM_001856		4	3	0	0	0	1	0	4	3					T	32127982	C	T	32127982	3	4	435	1	0	0	0	0	1	0	0	0	3673	768	27	1	1236	1	COL16A1	1	32127982	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	383680	32127982	217122639	211	21136											
COL16A1	1307	broad.mit.edu	37	chr1	32151335	32151335	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acggacatccccatcctgaaGgttggacagggctgggcacg	9	6	14	12	2	0	1	0	1	0	0	2	3	2	3	3	5	0	3	3	5	1	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:32151335G>T	ENST00000373672.3	-	29	2437	c.1921C>A	c.(1921-1923)Ctt>Att	p.L641I	COL16A1_ENST00000271069.6_Missense_Mutation_p.L640I|COL16A1_ENST00000373668.3_Missense_Mutation_p.L641I	NM_001856.3	NP_001847.3	Q07092	COGA1_HUMAN	collagen, type XVI, alpha 1	641	Nonhelical region 7 (NC7).				cell adhesion (GO:0007155)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|female pregnancy (GO:0007565)|integrin-mediated signaling pathway (GO:0007229)	collagen type XVI trimer (GO:0005597)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	integrin binding (GO:0005178)			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(15)|ovary(8)|prostate(4)	48		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0423)|all_neural(195;0.0837)|Breast(348;0.116)		STAD - Stomach adenocarcinoma(196;0.059)		CCATCCTGAAGGTTGGACAGG	0.632																																					Colon(143;498 1786 21362 25193 36625)	ENST00000373672.3																			0				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(15)|ovary(8)|prostate(4)	48						c.(1921-1923)Ctt>Att		collagen, type XVI, alpha 1							107	115	113					1																	32151335		1929	4130	6059	SO:0001583	missense	1307				cell adhesion|female pregnancy|integrin-mediated signaling pathway	collagen type XVI	integrin binding|structural molecule activity	g.chr1:32151335G>T	M92642	CCDS41297.1	1p35-p34	2013-01-16			ENSG00000084636	ENSG00000084636		"Collagens"	2193	protein-coding gene	gene with protein product		120326				1631157	Standard	NM_001856		Approved		uc001btk.1	Q07092	OTTHUMG00000003883	ENST00000373672.3:c.1921C>A	1.37:g.32151335G>T	ENSP00000362776:p.Leu641Ile					COL16A1_ENST00000373668.3_Missense_Mutation_p.L641I|COL16A1_ENST00000271069.6_Missense_Mutation_p.L640I	p.L641I	NM_001856.3	NP_001847.3	Q07092	COGA1_HUMAN		STAD - Stomach adenocarcinoma(196;0.059)	29	2437	-		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0423)|all_neural(195;0.0837)|Breast(348;0.116)	641			Nonhelical region 7 (NC7).		Q16593|Q59F89|Q71RG9	Missense_Mutation	SNP	ENST00000373672.3	37	c.1921C>A	CCDS41297.1	.	.	.	.	.	.	.	.	.	.	G	10.46	1.356474	0.24598	.	.	ENSG00000084636	ENST00000373672;ENST00000271069;ENST00000373668	D;D;D	0.90444	-2.62;-2.67;-2.62	5.06	-3.9	0.04181	.	0.990037	0.08229	N	0.977922	T	0.76630	0.4014	N	0.12182	0.205	0.09310	N	1	B;B;B	0.10296	0.0;0.001;0.003	B;B;B	0.06405	0.0;0.001;0.002	T	0.61792	-0.6990	10	0.18710	T	0.47	.	6.0392	0.19724	0.0769:0.1065:0.1839:0.6327	.	641;641;641	A6NCT7;Q07092;Q07092-2	.;COGA1_HUMAN;.	I	641;640;641	ENSP00000362776:L641I;ENSP00000271069:L640I;ENSP00000362772:L641I	ENSP00000271069:L640I	L	-	1	0	COL16A1	31923922	0.000000	0.05858	0.000000	0.03702	0.021000	0.10359	-0.382000	0.07408	-0.284000	0.09102	-0.261000	0.10672	CTT		0.632	COL16A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011057.2	NM_001856		32	72	1	0	6.05902e-23	1	6.74593e-23	32	72					T	32151335	G	T	32151335	3	4	435	1	0	0	0	0	1	0	0	0	3673	1000	35	5	3065	5	COL16A1	1	32151335	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	23353	32151335	217099286	212	21137											
COL16A1	1307	broad.mit.edu	37	chr1	32157644	32157644	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cggcacgcccttgatgcctcCgtcgcccttctcgcctttct	2	12	8	19	5	2	1	0	1	2	0	5	1	3	1	5	1	1	1	5	1	0	3	rs200545130	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:32157644C>T	ENST00000373672.3	-	17	1735	c.1219G>A	c.(1219-1221)Gga>Aga	p.G407R	COL16A1_ENST00000271069.6_Missense_Mutation_p.G407R|COL16A1_ENST00000373668.3_Missense_Mutation_p.G407R	NM_001856.3	NP_001847.3	Q07092	COGA1_HUMAN	collagen, type XVI, alpha 1	407	Collagen-like 1.|Triple-helical region 9 (COL9) with 3 imperfections.				cell adhesion (GO:0007155)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|female pregnancy (GO:0007565)|integrin-mediated signaling pathway (GO:0007229)	collagen type XVI trimer (GO:0005597)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	integrin binding (GO:0005178)			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(15)|ovary(8)|prostate(4)	48		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0423)|all_neural(195;0.0837)|Breast(348;0.116)		STAD - Stomach adenocarcinoma(196;0.059)		TTGATGCCTCCGTCGCCCTTC	0.647													C|||	2	0.000399361	8e-04	0.0014	5008	,	,		14209	0		0	False		,,,				2504	0				Colon(143;498 1786 21362 25193 36625)	ENST00000373672.3																			0				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(15)|ovary(8)|prostate(4)	48						c.(1219-1221)Gga>Aga		collagen, type XVI, alpha 1							68	75	73					1																	32157644		2044	4193	6237	SO:0001583	missense	1307				cell adhesion|female pregnancy|integrin-mediated signaling pathway	collagen type XVI	integrin binding|structural molecule activity	g.chr1:32157644C>T	M92642	CCDS41297.1	1p35-p34	2013-01-16			ENSG00000084636	ENSG00000084636		"Collagens"	2193	protein-coding gene	gene with protein product		120326				1631157	Standard	NM_001856		Approved		uc001btk.1	Q07092	OTTHUMG00000003883	ENST00000373672.3:c.1219G>A	1.37:g.32157644C>T	ENSP00000362776:p.Gly407Arg					COL16A1_ENST00000373668.3_Missense_Mutation_p.G407R|COL16A1_ENST00000271069.6_Missense_Mutation_p.G407R	p.G407R	NM_001856.3	NP_001847.3	Q07092	COGA1_HUMAN		STAD - Stomach adenocarcinoma(196;0.059)	17	1735	-		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0423)|all_neural(195;0.0837)|Breast(348;0.116)	407			Triple-helical region 9 (COL9) with 3 imperfections.		Q16593|Q59F89|Q71RG9	Missense_Mutation	SNP	ENST00000373672.3	37	c.1219G>A	CCDS41297.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	C	10.10	1.257782	0.22965	.	.	ENSG00000084636	ENST00000373672;ENST00000271069;ENST00000373668;ENST00000373667	D;D;D;D	0.87029	-2.2;-2.2;-2.2;-2.2	4.95	2.99	0.34606	.	0.605156	0.17049	N	0.189008	T	0.76314	0.3970	N	0.01284	-0.91	0.27470	N	0.952897	D;P;P	0.76494	0.999;0.903;0.882	D;B;B	0.63703	0.917;0.273;0.179	T	0.67457	-0.5666	10	0.15952	T	0.53	.	7.3158	0.26499	0.0:0.7273:0.1752:0.0975	.	407;407;407	A6NCT7;Q07092;Q07092-2	.;COGA1_HUMAN;.	R	407;407;407;126	ENSP00000362776:G407R;ENSP00000271069:G407R;ENSP00000362772:G407R;ENSP00000362771:G126R	ENSP00000271069:G407R	G	-	1	0	COL16A1	31930231	0.010000	0.17322	0.993000	0.49108	0.841000	0.47740	0.663000	0.25053	1.191000	0.43056	0.462000	0.41574	GGA		0.647	COL16A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011057.2	NM_001856		36	78	0	0	0	1	0	36	78					T	32157644	C	T	32157644	3	4	435	1	0	0	0	0	1	0	0	0	3673	661	23	2	3815	2	COL16A1	1	32157644	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	6309	32157644	217092977	213	21138											
BAI2	576	broad.mit.edu	37	chr1	32196527	32196527	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggttggaaggtcattccataGggattctggagagatccata	11	11	13	6	0	2	1	1	0	1	1	4	5	4	4	2	5	0	1	2	5	3	5	rs550672929		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:32196527G>T	ENST00000373658.3	-	29	4595	c.4254C>A	c.(4252-4254)ccC>ccA	p.P1418P	BAI2_ENST00000398542.1_Silent_p.P1318P|BAI2_ENST00000440175.2_Silent_p.P1027P|BAI2_ENST00000398547.1_Silent_p.P1351P|BAI2_ENST00000257070.4_Silent_p.P1385P|BAI2_ENST00000398538.1_Silent_p.P1406P|BAI2_ENST00000398556.3_Silent_p.P1333P|BAI2_ENST00000527361.1_Silent_p.P1385P|BAI2_ENST00000373655.2_Silent_p.P1418P|BAI2_ENST00000465256.1_5'UTR	NM_001703.2	NP_001694.2	O60241	BAI2_HUMAN	brain-specific angiogenesis inhibitor 2	1418					G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|neuropeptide signaling pathway (GO:0007218)|peripheral nervous system development (GO:0007422)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(5)|central_nervous_system(2)|endometrium(1)|large_intestine(7)|liver(2)|lung(24)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	55		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174)		STAD - Stomach adenocarcinoma(196;0.0557)		TCATTCCATAGGGATTCTGGA	0.677																																						ENST00000373658.3																			0				breast(5)|central_nervous_system(2)|endometrium(1)|large_intestine(7)|liver(2)|lung(24)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	55						c.(4252-4254)ccC>ccA		brain-specific angiogenesis inhibitor 2							37	50	45					1																	32196527		2203	4300	6503	SO:0001819	synonymous_variant	576				negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr1:32196527G>T	AB005298	CCDS72746.1, CCDS72747.1	1p35	2014-08-08			ENSG00000121753	ENSG00000121753		"-", "GPCR / Class B : Orphans"	944	protein-coding gene	gene with protein product		602683				9533023	Standard	XM_006710783		Approved		uc001btn.3	O60241	OTTHUMG00000003885	ENST00000373658.3:c.4254C>A	1.37:g.32196527G>T						BAI2_ENST00000398538.1_Silent_p.P1406P|BAI2_ENST00000527361.1_Silent_p.P1385P|BAI2_ENST00000373655.2_Silent_p.P1418P|BAI2_ENST00000398542.1_Silent_p.P1318P|BAI2_ENST00000440175.2_Silent_p.P1027P|BAI2_ENST00000398556.3_Silent_p.P1333P|BAI2_ENST00000465256.1_5'UTR|BAI2_ENST00000398547.1_Silent_p.P1351P|BAI2_ENST00000257070.4_Silent_p.P1385P	p.P1418P	NM_001703.2	NP_001694.2	O60241	BAI2_HUMAN		STAD - Stomach adenocarcinoma(196;0.0557)	29	4595	-		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174)	1418					B9EGK9|Q5T6K0|Q8NGW8|Q96GZ9	Silent	SNP	ENST00000373658.3	37	c.4254C>A	CCDS346.2																																																																																				0.677	BAI2-015	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000381838.1	NM_001703		11	33	1	0	2.32078e-09	1	2.46314e-09	11	33					T	32196527	G	T	32196527	2	4	435	1	0	0	0	0	0	0	0	1	1299	987	35	5		5	BAI2	1	32196527	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	38883	32196527	217054094	214	21139											
BAI2	576	broad.mit.edu	37	chr1	32204494	32204494	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggaggctgggtaggggggCgcacagtcactgtcatcacc	7	7	16	11	1	3	0	3	0	0	0	3	1	3	1	1	6	0	3	1	6	1	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:32204494C>T	ENST00000373658.3	-	16	2881	c.2540G>A	c.(2539-2541)cGc>cAc	p.R847H	BAI2_ENST00000398542.1_Missense_Mutation_p.R780H|BAI2_ENST00000440175.2_Missense_Mutation_p.R489H|BAI2_ENST00000398547.1_Missense_Mutation_p.R780H|BAI2_ENST00000257070.4_Missense_Mutation_p.R847H|BAI2_ENST00000398538.1_Missense_Mutation_p.R835H|BAI2_ENST00000398556.3_Missense_Mutation_p.R795H|BAI2_ENST00000527361.1_Missense_Mutation_p.R847H|BAI2_ENST00000373655.2_Missense_Mutation_p.R847H|BAI2_ENST00000465256.1_5'Flank	NM_001703.2	NP_001694.2	O60241	BAI2_HUMAN	brain-specific angiogenesis inhibitor 2	847					G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|neuropeptide signaling pathway (GO:0007218)|peripheral nervous system development (GO:0007422)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(5)|central_nervous_system(2)|endometrium(1)|large_intestine(7)|liver(2)|lung(24)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	55		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174)		STAD - Stomach adenocarcinoma(196;0.0557)		GGTAGGGGGGCGCACAGTCAC	0.627																																						ENST00000373658.3																			0				breast(5)|central_nervous_system(2)|endometrium(1)|large_intestine(7)|liver(2)|lung(24)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	55						c.(2539-2541)cGc>cAc		brain-specific angiogenesis inhibitor 2							77	85	82					1																	32204494		2203	4300	6503	SO:0001583	missense	576				negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr1:32204494C>T	AB005298	CCDS72746.1, CCDS72747.1	1p35	2014-08-08			ENSG00000121753	ENSG00000121753		"-", "GPCR / Class B : Orphans"	944	protein-coding gene	gene with protein product		602683				9533023	Standard	XM_006710783		Approved		uc001btn.3	O60241	OTTHUMG00000003885	ENST00000373658.3:c.2540G>A	1.37:g.32204494C>T	ENSP00000362762:p.Arg847His					BAI2_ENST00000398538.1_Missense_Mutation_p.R835H|BAI2_ENST00000527361.1_Missense_Mutation_p.R847H|BAI2_ENST00000373655.2_Missense_Mutation_p.R847H|BAI2_ENST00000398542.1_Missense_Mutation_p.R780H|BAI2_ENST00000440175.2_Missense_Mutation_p.R489H|BAI2_ENST00000398556.3_Missense_Mutation_p.R795H|BAI2_ENST00000398547.1_Missense_Mutation_p.R780H|BAI2_ENST00000257070.4_Missense_Mutation_p.R847H	p.R847H	NM_001703.2	NP_001694.2	O60241	BAI2_HUMAN		STAD - Stomach adenocarcinoma(196;0.0557)	16	2881	-		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174)	847					B9EGK9|Q5T6K0|Q8NGW8|Q96GZ9	Missense_Mutation	SNP	ENST00000373658.3	37	c.2540G>A	CCDS346.2	.	.	.	.	.	.	.	.	.	.	C	19.69	3.874581	0.72180	.	.	ENSG00000121753	ENST00000398556;ENST00000398547;ENST00000373658;ENST00000373655;ENST00000398542;ENST00000257070;ENST00000527361;ENST00000440175;ENST00000398538;ENST00000420125	T;T;T;T;T;T;T;T;T;T	0.12147	2.71;2.71;2.71;2.71;2.71;2.71;2.71;2.71;2.71;2.71	4.92	4.92	0.64577	Domain of unknown function DUF3497 (1);	0.185308	0.25994	N	0.026986	T	0.15435	0.0372	L	0.44542	1.39	0.36609	D	0.875108	P;P;P;P;P;P	0.52842	0.956;0.855;0.763;0.721;0.956;0.88	P;B;B;B;P;P	0.47981	0.563;0.396;0.124;0.393;0.563;0.532	T	0.06197	-1.0840	10	0.31617	T	0.26	.	9.6925	0.40136	0.0:0.9045:0.0:0.0955	.	847;835;489;780;847;847	O60241-4;O60241-3;B4DKC3;A2A3C1;O60241-2;O60241	.;.;.;.;.;BAI2_HUMAN	H	795;780;847;847;780;847;847;489;835;785	ENSP00000381564:R795H;ENSP00000381555:R780H;ENSP00000362762:R847H;ENSP00000362759:R847H;ENSP00000381550:R780H;ENSP00000257070:R847H;ENSP00000435397:R847H;ENSP00000391071:R489H;ENSP00000381548:R835H;ENSP00000410921:R785H	ENSP00000257070:R847H	R	-	2	0	BAI2	31977081	1.000000	0.71417	1.000000	0.80357	0.909000	0.53808	3.715000	0.54897	2.445000	0.82738	0.655000	0.94253	CGC		0.627	BAI2-015	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000381838.1	NM_001703		18	62	0	0	0	1	0	18	62					T	32204494	C	T	32204494	3	4	435	1	0	0	0	0	1	0	0	0	1299	768	27	1	2289	1	BAI2	1	32204494	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	7967	32204494	217046127	215	21140											
BAI2	576	broad.mit.edu	37	chr1	32207730	32207730	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcccaggctgggcccgccacGctgcacttccggctgcgctg	3	6	14	18	4	0	0	0	0	0	0	1	0	1	0	4	3	2	5	4	3	0	1	rs530331422		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:32207730G>A	ENST00000373658.3	-	8	1682	c.1341C>T	c.(1339-1341)agC>agT	p.S447S	BAI2_ENST00000398542.1_Silent_p.S380S|BAI2_ENST00000440175.2_Silent_p.S89S|BAI2_ENST00000398547.1_Silent_p.S380S|BAI2_ENST00000257070.4_Silent_p.S447S|BAI2_ENST00000398538.1_Silent_p.S435S|BAI2_ENST00000398556.3_Silent_p.S395S|BAI2_ENST00000527361.1_Silent_p.S447S|BAI2_ENST00000373655.2_Silent_p.S447S	NM_001703.2	NP_001694.2	O60241	BAI2_HUMAN	brain-specific angiogenesis inhibitor 2	447	TSP type-1 3. {ECO:0000255|PROSITE- ProRule:PRU00210}.				G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|neuropeptide signaling pathway (GO:0007218)|peripheral nervous system development (GO:0007422)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(5)|central_nervous_system(2)|endometrium(1)|large_intestine(7)|liver(2)|lung(24)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	55		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174)		STAD - Stomach adenocarcinoma(196;0.0557)		GGCCCGCCACGCTGCACTTCC	0.672													G|||	1	0.000199681	0	0	5008	,	,		18783	0		0	False		,,,				2504	0.001					ENST00000373658.3																			0				breast(5)|central_nervous_system(2)|endometrium(1)|large_intestine(7)|liver(2)|lung(24)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	55						c.(1339-1341)agC>agT		brain-specific angiogenesis inhibitor 2							32	37	35					1																	32207730		2203	4299	6502	SO:0001819	synonymous_variant	576				negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr1:32207730G>A	AB005298	CCDS72746.1, CCDS72747.1	1p35	2014-08-08			ENSG00000121753	ENSG00000121753		"-", "GPCR / Class B : Orphans"	944	protein-coding gene	gene with protein product		602683				9533023	Standard	XM_006710783		Approved		uc001btn.3	O60241	OTTHUMG00000003885	ENST00000373658.3:c.1341C>T	1.37:g.32207730G>A						BAI2_ENST00000398538.1_Silent_p.S435S|BAI2_ENST00000527361.1_Silent_p.S447S|BAI2_ENST00000373655.2_Silent_p.S447S|BAI2_ENST00000398542.1_Silent_p.S380S|BAI2_ENST00000440175.2_Silent_p.S89S|BAI2_ENST00000398556.3_Silent_p.S395S|BAI2_ENST00000398547.1_Silent_p.S380S|BAI2_ENST00000257070.4_Silent_p.S447S	p.S447S	NM_001703.2	NP_001694.2	O60241	BAI2_HUMAN		STAD - Stomach adenocarcinoma(196;0.0557)	8	1682	-		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174)	447			TSP type-1 3.		B9EGK9|Q5T6K0|Q8NGW8|Q96GZ9	Silent	SNP	ENST00000373658.3	37	c.1341C>T	CCDS346.2																																																																																				0.672	BAI2-015	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000381838.1	NM_001703		6	20	0	0	0	1	0	6	20					A	32207730	G	A	32207730	2	1	435	1	0	0	0	0	0	0	0	1	1299	1078	38	1		1	BAI2	1	32207730	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	3236	32207730	217042891	216	21141											
BAI2	576	broad.mit.edu	37	chr1	32221864	32221864	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acaggtgaattggctagagtTgttgttgttgatgagcaaga	11	13	14	3	0	0	5	0	3	0	2	0	5	0	5	0	2	1	6	0	2	3	6			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:32221864T>C	ENST00000373658.3	-	4	915	c.574A>G	c.(574-576)Aac>Gac	p.N192D	BAI2_ENST00000398542.1_Missense_Mutation_p.N180D|MIR4254_ENST00000581063.1_RNA|BAI2_ENST00000398547.1_Missense_Mutation_p.N180D|BAI2_ENST00000257070.4_Missense_Mutation_p.N192D|BAI2_ENST00000398538.1_Missense_Mutation_p.N180D|BAI2_ENST00000398556.3_Missense_Mutation_p.N195D|BAI2_ENST00000527361.1_Missense_Mutation_p.N192D|BAI2_ENST00000373655.2_Missense_Mutation_p.N192D	NM_001703.2	NP_001694.2	O60241	BAI2_HUMAN	brain-specific angiogenesis inhibitor 2	192	Poly-Asn.				G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|neuropeptide signaling pathway (GO:0007218)|peripheral nervous system development (GO:0007422)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(5)|central_nervous_system(2)|endometrium(1)|large_intestine(7)|liver(2)|lung(24)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	55		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174)		STAD - Stomach adenocarcinoma(196;0.0557)		TGGCTAGAGTTGTTGTTGTTG	0.662																																						ENST00000373658.3																			0				breast(5)|central_nervous_system(2)|endometrium(1)|large_intestine(7)|liver(2)|lung(24)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	55						c.(574-576)Aac>Gac		brain-specific angiogenesis inhibitor 2							32	39	37					1																	32221864		2203	4299	6502	SO:0001583	missense	576				negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr1:32221864T>C	AB005298	CCDS72746.1, CCDS72747.1	1p35	2014-08-08			ENSG00000121753	ENSG00000121753		"-", "GPCR / Class B : Orphans"	944	protein-coding gene	gene with protein product		602683				9533023	Standard	XM_006710783		Approved		uc001btn.3	O60241	OTTHUMG00000003885	ENST00000373658.3:c.574A>G	1.37:g.32221864T>C	ENSP00000362762:p.Asn192Asp					BAI2_ENST00000398538.1_Missense_Mutation_p.N180D|BAI2_ENST00000527361.1_Missense_Mutation_p.N192D|BAI2_ENST00000373655.2_Missense_Mutation_p.N192D|BAI2_ENST00000398542.1_Missense_Mutation_p.N180D|BAI2_ENST00000398556.3_Missense_Mutation_p.N195D|BAI2_ENST00000398547.1_Missense_Mutation_p.N180D|BAI2_ENST00000257070.4_Missense_Mutation_p.N192D	p.N192D	NM_001703.2	NP_001694.2	O60241	BAI2_HUMAN		STAD - Stomach adenocarcinoma(196;0.0557)	4	915	-		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174)	192			Poly-Asn.		B9EGK9|Q5T6K0|Q8NGW8|Q96GZ9	Missense_Mutation	SNP	ENST00000373658.3	37	c.574A>G	CCDS346.2	.	.	.	.	.	.	.	.	.	.	T	22.6	4.314985	0.81358	.	.	ENSG00000121753	ENST00000398556;ENST00000398547;ENST00000373658;ENST00000373655;ENST00000398542;ENST00000257070;ENST00000527361;ENST00000398538;ENST00000420125;ENST00000533175	T;T;T;T;T;T;T;T;T;T	0.56941	1.05;1.27;0.47;0.47;1.45;0.43;0.43;0.53;1.05;0.99	5.08	5.08	0.68730	.	0.000000	0.44902	D	0.000420	T	0.61324	0.2338	L	0.52573	1.65	0.80722	D	1	P;D;D;P;D;D	0.62365	0.817;0.991;0.983;0.716;0.983;0.972	B;P;P;B;P;P	0.56434	0.217;0.798;0.721;0.219;0.798;0.53	T	0.64672	-0.6352	10	0.62326	D	0.03	.	14.1251	0.65215	0.0:0.0:0.0:1.0	.	180;192;180;180;192;192	A2A3C3;O60241-4;O60241-3;A2A3C1;O60241-2;O60241	.;.;.;.;.;BAI2_HUMAN	D	195;180;192;192;180;192;192;180;185;226	ENSP00000381564:N195D;ENSP00000381555:N180D;ENSP00000362762:N192D;ENSP00000362759:N192D;ENSP00000381550:N180D;ENSP00000257070:N192D;ENSP00000435397:N192D;ENSP00000381548:N180D;ENSP00000410921:N185D;ENSP00000437219:N226D	ENSP00000257070:N192D	N	-	1	0	BAI2	31994451	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.424000	0.80242	2.050000	0.60909	0.379000	0.24179	AAC		0.662	BAI2-015	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000381838.1	NM_001703		17	33	0	0	0	1	0	17	33					C	32221864	T	C	32221864	3	2	435	1	0	0	0	0	1	0	0	0	1299	1812	63	4	4303	4	BAI2	1	32221864	Missense_Mutation	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	14134	32221864	217028757	217	21142											
TMEM39B	55116	broad.mit.edu	37	chr1	32557293	32557293	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caggtttgggatgtacattcCgttcctgcagctgaattgcg	7	13	12	9	2	0	1	0	1	0	0	2	2	2	2	2	2	4	5	2	2	2	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:32557293C>T	ENST00000336294.5	+	6	754	c.608C>T	c.(607-609)cCg>cTg	p.P203L	TMEM39B_ENST00000427288.1_Missense_Mutation_p.P88L|TMEM39B_ENST00000456834.2_Silent_p.S151S|TMEM39B_ENST00000373634.4_Missense_Mutation_p.P4L|TMEM39B_ENST00000487305.1_3'UTR	NM_018056.2	NP_060526.2	Q9GZU3	TM39B_HUMAN	transmembrane protein 39B	203						integral component of membrane (GO:0016021)				endometrium(2)|kidney(1)|lung(5)|ovary(1)|prostate(2)	11		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)				ATGTACATTCCGTTCCTGCAG	0.612																																						ENST00000427288.1																			0				endometrium(2)|kidney(1)|lung(5)|ovary(1)|prostate(2)	11						c.(262-264)cCg>cTg		transmembrane protein 39B							51	50	50					1																	32557293		2203	4300	6503	SO:0001583	missense	55116					integral to membrane		g.chr1:32557293C>T	AL136695	CCDS351.2	1p35.1	2008-02-05			ENSG00000121775	ENSG00000121775			25510	protein-coding gene	gene with protein product						12477932	Standard	NM_018056		Approved	FLJ10315	uc010ogv.2	Q9GZU3	OTTHUMG00000004020	ENST00000336294.5:c.608C>T	1.37:g.32557293C>T	ENSP00000338165:p.Pro203Leu					TMEM39B_ENST00000336294.5_Missense_Mutation_p.P203L|TMEM39B_ENST00000456834.2_Silent_p.S151S|TMEM39B_ENST00000373634.4_Missense_Mutation_p.P4L|TMEM39B_ENST00000487305.1_3'UTR	p.P88L			Q9GZU3	TM39B_HUMAN			7	743	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)	203					B4DKN8|B4DQE6|B4DTN8|D3DPP4|Q6IA44	Missense_Mutation	SNP	ENST00000336294.5	37	c.263C>T	CCDS351.2	.	.	.	.	.	.	.	.	.	.	C	34	5.354723	0.95854	.	.	ENSG00000121775	ENST00000336294;ENST00000373633;ENST00000438825;ENST00000373634;ENST00000427288	.	.	.	5.43	5.43	0.79202	.	0.102199	0.64402	D	0.000002	T	0.66761	0.2822	L	0.42245	1.32	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.971;0.999;0.999	T	0.57768	-0.7754	9	0.02654	T	1	-30.0047	19.6273	0.95682	0.0:1.0:0.0:0.0	.	203;88;76	Q9GZU3;B4DTN8;Q9NW51	TM39B_HUMAN;.;.	L	203;175;175;4;88	.	ENSP00000338165:P203L	P	+	2	0	TMEM39B	32329880	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.325000	0.79124	2.726000	0.93360	0.655000	0.94253	CCG		0.612	TMEM39B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011489.2	NM_018056		15	22	0	0	0	1	0	15	22					T	32557293	C	T	32557293	3	4	435	1	0	0	0	0	1	0	0	0	16159	652	23	2	630	2	TMEM39B	1	32557293	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	335429	32557293	216693328	218	21143											
TMEM39B	55116	broad.mit.edu	37	chr1	32568174	32568174	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cctcatcctcttcagcaactActatgccttcttcaagctgc	8	13	4	16	0	5	0	3	0	2	0	6	0	6	0	3	0	6	2	3	0	4	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:32568174A>G	ENST00000336294.5	+	9	1525	c.1379A>G	c.(1378-1380)tAc>tGc	p.Y460C	TMEM39B_ENST00000373634.4_Missense_Mutation_p.Y261C|TMEM39B_ENST00000487305.1_3'UTR	NM_018056.2	NP_060526.2	Q9GZU3	TM39B_HUMAN	transmembrane protein 39B	460						integral component of membrane (GO:0016021)				endometrium(2)|kidney(1)|lung(5)|ovary(1)|prostate(2)	11		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)				TTCAGCAACTACTATGCCTTC	0.552																																						ENST00000336294.5																			0				endometrium(2)|kidney(1)|lung(5)|ovary(1)|prostate(2)	11						c.(1378-1380)tAc>tGc		transmembrane protein 39B							138	123	128					1																	32568174		2203	4300	6503	SO:0001583	missense	55116					integral to membrane		g.chr1:32568174A>G	AL136695	CCDS351.2	1p35.1	2008-02-05			ENSG00000121775	ENSG00000121775			25510	protein-coding gene	gene with protein product						12477932	Standard	NM_018056		Approved	FLJ10315	uc010ogv.2	Q9GZU3	OTTHUMG00000004020	ENST00000336294.5:c.1379A>G	1.37:g.32568174A>G	ENSP00000338165:p.Tyr460Cys					TMEM39B_ENST00000373634.4_Missense_Mutation_p.Y261C|TMEM39B_ENST00000487305.1_3'UTR	p.Y460C	NM_018056.2	NP_060526.2	Q9GZU3	TM39B_HUMAN			9	1525	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)	460					B4DKN8|B4DQE6|B4DTN8|D3DPP4|Q6IA44	Missense_Mutation	SNP	ENST00000336294.5	37	c.1379A>G	CCDS351.2	.	.	.	.	.	.	.	.	.	.	A	24.3	4.517400	0.85495	.	.	ENSG00000121775	ENST00000336294;ENST00000373634	.	.	.	5.57	5.57	0.84162	.	0.000000	0.85682	D	0.000000	T	0.80423	0.4620	M	0.80982	2.52	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.83322	-0.0017	9	0.87932	D	0	-29.3557	16.0415	0.80687	1.0:0.0:0.0:0.0	.	460;333	Q9GZU3;Q9NW51	TM39B_HUMAN;.	C	460;261	.	ENSP00000338165:Y460C	Y	+	2	0	TMEM39B	32340761	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.904000	0.92590	2.254000	0.74563	0.533000	0.62120	TAC		0.552	TMEM39B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011489.2	NM_018056		24	40	0	0	0	1	0	24	40					G	32568174	A	G	32568174	3	3	435	1	0	0	0	0	1	0	0	0	16159	391	14	4	1413	4	TMEM39B	1	32568174	Missense_Mutation	SNP	A	TCGA-XK-AAIW-01A-11D-A41K-08	10881	32568174	216682447	219	21144											
TXLNA	200081	broad.mit.edu	37	chr1	32653640	32653640	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaagagaaggaccacctgcGcggtgagcacagcaaggccg	12	2	15	12	3	0	2	0	1	0	1	0	4	0	3	3	3	3	3	3	3	3	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:32653640G>A	ENST00000373609.1	+	4	964	c.683G>A	c.(682-684)cGc>cAc	p.R228H	TXLNA_ENST00000373610.3_Missense_Mutation_p.R228H			P40222	TXLNA_HUMAN	taxilin alpha	228				R -> C (in Ref. 5; AAH80578). {ECO:0000305}.	B cell activation (GO:0042113)|cell proliferation (GO:0008283)|exocytosis (GO:0006887)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)	cytokine activity (GO:0005125)|high molecular weight B cell growth factor receptor binding (GO:0030372)			endometrium(1)|kidney(1)|large_intestine(4)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)				GACCACCTGCGCGGTGAGCAC	0.617																																						ENST00000373609.1																			0				endometrium(1)|kidney(1)|large_intestine(4)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13						c.(682-684)cGc>cAc		taxilin alpha							42	38	40					1																	32653640		2203	4300	6503	SO:0001583	missense	200081				cell proliferation|exocytosis	cytoplasm|extracellular region	cytokine activity|high molecular weight B cell growth factor receptor binding	g.chr1:32653640G>A	AF516206	CCDS353.1	1p35	2012-02-21			ENSG00000084652	ENSG00000084652			30685	protein-coding gene	gene with protein product		608676				15184072, 14623251	Standard	NM_175852		Approved	DKFZp451J0118	uc001bui.3	P40222	OTTHUMG00000004423	ENST00000373609.1:c.683G>A	1.37:g.32653640G>A	ENSP00000362711:p.Arg228His					TXLNA_ENST00000373610.3_Missense_Mutation_p.R228H	p.R228H			P40222	TXLNA_HUMAN			4	964	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)	228	R -> C (in Ref. 5; AAH80578).				D3DPP6|Q5TFJ6|Q66K62|Q86T54|Q86T85|Q86T86|Q86Y86|Q86YW3|Q8N2Y3	Missense_Mutation	SNP	ENST00000373609.1	37	c.683G>A	CCDS353.1	.	.	.	.	.	.	.	.	.	.	G	25.1	4.606539	0.87157	.	.	ENSG00000084652	ENST00000373610;ENST00000373609	T;T	0.32023	1.47;1.47	5.24	5.24	0.73138	.	0.102176	0.64402	D	0.000004	T	0.49150	0.1540	M	0.64170	1.965	0.47153	D	0.999339	D	0.67145	0.996	D	0.63033	0.91	T	0.49447	-0.8939	10	0.87932	D	0	-7.8494	13.0074	0.58712	0.085:0.0:0.915:0.0	.	228	P40222	TXLNA_HUMAN	H	228	ENSP00000362712:R228H;ENSP00000362711:R228H	ENSP00000362711:R228H	R	+	2	0	TXLNA	32426227	1.000000	0.71417	0.950000	0.38849	0.904000	0.53231	4.858000	0.62947	2.611000	0.88343	0.655000	0.94253	CGC		0.617	TXLNA-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012844.1	NM_175852		5	6	0	0	0	1	0	5	6					A	32653640	G	A	32653640	3	1	435	1	0	0	0	0	1	0	0	0	16784	1087	38	1	697	1	TXLNA	1	32653640	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	85466	32653640	216596981	220	21145											
TXLNA	200081	broad.mit.edu	37	chr1	32660568	32660568	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	caacggctggagaagctgtgCcgggcactgcagacagagcg	10	4	16	11	3	0	3	0	0	0	3	0	4	0	3	1	3	5	4	1	3	2	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:32660568C>T	ENST00000373609.1	+	10	1694	c.1413C>T	c.(1411-1413)tgC>tgT	p.C471C	TXLNA_ENST00000373610.3_Silent_p.C471C			P40222	TXLNA_HUMAN	taxilin alpha	471					B cell activation (GO:0042113)|cell proliferation (GO:0008283)|exocytosis (GO:0006887)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)	cytokine activity (GO:0005125)|high molecular weight B cell growth factor receptor binding (GO:0030372)			endometrium(1)|kidney(1)|large_intestine(4)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)				AGAAGCTGTGCCGGGCACTGC	0.577																																						ENST00000373609.1																			0				endometrium(1)|kidney(1)|large_intestine(4)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13						c.(1411-1413)tgC>tgT		taxilin alpha							57	63	61					1																	32660568		2203	4300	6503	SO:0001819	synonymous_variant	200081				cell proliferation|exocytosis	cytoplasm|extracellular region	cytokine activity|high molecular weight B cell growth factor receptor binding	g.chr1:32660568C>T	AF516206	CCDS353.1	1p35	2012-02-21			ENSG00000084652	ENSG00000084652			30685	protein-coding gene	gene with protein product		608676				15184072, 14623251	Standard	NM_175852		Approved	DKFZp451J0118	uc001bui.3	P40222	OTTHUMG00000004423	ENST00000373609.1:c.1413C>T	1.37:g.32660568C>T						TXLNA_ENST00000373610.3_Silent_p.C471C	p.C471C			P40222	TXLNA_HUMAN			10	1694	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)	471					D3DPP6|Q5TFJ6|Q66K62|Q86T54|Q86T85|Q86T86|Q86Y86|Q86YW3|Q8N2Y3	Silent	SNP	ENST00000373609.1	37	c.1413C>T	CCDS353.1																																																																																				0.577	TXLNA-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012844.1	NM_175852		6	56	0	0	0	1	0	6	56					T	32660568	C	T	32660568	2	4	435	1	0	0	0	0	0	0	0	1	16784	747	26	3		3	TXLNA	1	32660568	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	6928	32660568	216590053	221	21146											
FAM167B	84734	broad.mit.edu	37	chr1	32713183	32713183	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	agcccaggtccagagccaggCctggcgcagggcccaagcca	9	2	14	16	1	0	1	0	0	0	1	1	1	1	1	6	4	3	1	6	4	1	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:32713183C>T	ENST00000373582.3	+	1	350	c.161C>T	c.(160-162)gCc>gTc	p.A54V		NM_032648.2	NP_116037.2	Q9BTA0	F167B_HUMAN	family with sequence similarity 167, member B	54										endometrium(1)|large_intestine(1)|lung(1)|ovary(2)	5						CAGAGCCAGGCCTGGCGCAGG	0.647																																						ENST00000373582.3																			0				endometrium(1)|large_intestine(1)|lung(1)|ovary(2)	5						c.(160-162)gCc>gTc		family with sequence similarity 167, member B							35	44	41					1																	32713183		1949	4128	6077	SO:0001583	missense	84734							g.chr1:32713183C>T	BC004269	CCDS358.2	1p35.1	2010-08-27	2008-06-11	2008-06-11	ENSG00000183615	ENSG00000183615			28133	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 90"	C1orf90		12477932	Standard	NM_032648		Approved	MGC10820	uc001buw.3	Q9BTA0	OTTHUMG00000007462	ENST00000373582.3:c.161C>T	1.37:g.32713183C>T	ENSP00000362684:p.Ala54Val						p.A54V	NM_032648.2	NP_116037.2	Q9BTA0	F167B_HUMAN			1	350	+			54					Q5TDH6	Missense_Mutation	SNP	ENST00000373582.3	37	c.161C>T	CCDS358.2	.	.	.	.	.	.	.	.	.	.	c	15.63	2.889439	0.52014	.	.	ENSG00000183615	ENST00000373582	T	0.59083	0.29	5.32	4.41	0.53225	.	0.158118	0.41194	U	0.000940	T	0.49184	0.1542	L	0.51422	1.61	0.31887	N	0.617684	B	0.06786	0.001	B	0.04013	0.001	T	0.56117	-0.8032	10	0.51188	T	0.08	-8.3964	8.9814	0.35968	0.1468:0.7774:0.0:0.0758	.	54	Q9BTA0	F167B_HUMAN	V	54	ENSP00000362684:A54V	ENSP00000362684:A54V	A	+	2	0	FAM167B	32485770	0.960000	0.32886	1.000000	0.80357	0.826000	0.46750	2.736000	0.47385	1.391000	0.46566	-0.258000	0.10820	GCC		0.647	FAM167B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019615.2	NM_032648		8	16	0	0	0	1	0	8	16					T	32713183	C	T	32713183	3	4	435	1	0	0	0	0	1	0	0	0	5484	739	26	3	163	3	FAM167B	1	32713183	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	52615	32713183	216537438	222	21147											
HDAC1	3065	broad.mit.edu	37	chr1	32793220	32793220	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttctacaccacggaccgggTcatgactgtgtcctttcata	8	12	8	13	2	3	1	2	1	1	0	4	2	4	2	3	2	1	0	3	2	2	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:32793220T>C	ENST00000373548.3	+	6	662	c.578T>C	c.(577-579)gTc>gCc	p.V193A	HDAC1_ENST00000373541.2_5'UTR|HDAC1_ENST00000490081.1_3'UTR	NM_004964.2	NP_004955.2	Q13547	HDAC1_HUMAN	histone deacetylase 1	193	Histone deacetylase.				ATP-dependent chromatin remodeling (GO:0043044)|blood coagulation (GO:0007596)|chromatin modification (GO:0016568)|chromatin remodeling (GO:0006338)|circadian regulation of gene expression (GO:0032922)|embryonic digit morphogenesis (GO:0042733)|epidermal cell differentiation (GO:0009913)|eyelid development in camera-type eye (GO:0061029)|fungiform papilla formation (GO:0061198)|gene expression (GO:0010467)|hair follicle placode formation (GO:0060789)|histone deacetylation (GO:0016575)|histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|mitotic cell cycle (GO:0000278)|negative regulation by host of viral transcription (GO:0043922)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell cycle (GO:0045786)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of cell proliferation (GO:0008284)|positive regulation of receptor biosynthetic process (GO:0010870)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein deacetylation (GO:0006476)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|histone deacetylase complex (GO:0000118)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|NuRD complex (GO:0016581)|protein complex (GO:0043234)|Sin3 complex (GO:0016580)	activating transcription factor binding (GO:0033613)|core promoter binding (GO:0001047)|deacetylase activity (GO:0019213)|enzyme binding (GO:0019899)|histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|protein deacetylase activity (GO:0033558)|repressing transcription factor binding (GO:0070491)|RNA polymerase II repressing transcription factor binding (GO:0001103)|RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	18		Breast(348;0.000523)|Lung NSC(340;0.000992)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Lung SC(1967;0.113)		KIRC - Kidney renal clear cell carcinoma(1967;0.138)	Vorinostat(DB02546)	ACGGACCGGGTCATGACTGTG	0.542																																						ENST00000373548.3																			0				NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	18						c.(577-579)gTc>gCc		histone deacetylase 1	Vorinostat(DB02546)						121	107	112					1																	32793220		2203	4300	6503	SO:0001583	missense	3065				anti-apoptosis|blood coagulation|embryonic digit morphogenesis|epidermal cell differentiation|eyelid development in camera-type eye|fungiform papilla formation|hair follicle placode formation|histone H3 deacetylation|histone H4 deacetylation|negative regulation by host of viral transcription|negative regulation of androgen receptor signaling pathway|negative regulation of cell cycle|nerve growth factor receptor signaling pathway|odontogenesis of dentine-containing tooth|positive regulation of cell proliferation|positive regulation of receptor biosynthetic process|positive regulation of transcription from RNA polymerase II promoter	cytosol|NuRD complex|Sin3 complex	activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|identical protein binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|RNA polymerase II transcription corepressor activity|sequence-specific DNA binding transcription factor activity	g.chr1:32793220T>C	D50405	CCDS360.1	1p34	2008-02-05			ENSG00000116478	ENSG00000116478			4852	protein-coding gene	gene with protein product		601241		RPD3L1		8602529	Standard	NM_004964		Approved	HD1, GON-10	uc001bvb.1	Q13547	OTTHUMG00000007529	ENST00000373548.3:c.578T>C	1.37:g.32793220T>C	ENSP00000362649:p.Val193Ala					HDAC1_ENST00000490081.1_3'UTR|HDAC1_ENST00000373541.2_5'UTR	p.V193A	NM_004964.2	NP_004955.2	Q13547	HDAC1_HUMAN		KIRC - Kidney renal clear cell carcinoma(1967;0.138)	6	662	+		Breast(348;0.000523)|Lung NSC(340;0.000992)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Lung SC(1967;0.113)	193			Histone deacetylase.		Q92534	Missense_Mutation	SNP	ENST00000373548.3	37	c.578T>C	CCDS360.1	.	.	.	.	.	.	.	.	.	.	T	23.3	4.405112	0.83230	.	.	ENSG00000116478	ENST00000373548;ENST00000428704	D;T	0.82893	-1.66;0.67	4.56	4.56	0.56223	Histone deacetylase domain (2);	0.057072	0.64402	D	0.000001	D	0.94503	0.8230	H	0.98542	4.26	0.80722	D	1	D;P	0.76494	0.999;0.928	D;P	0.85130	0.997;0.858	D	0.96454	0.9336	10	0.87932	D	0	-24.1663	14.4076	0.67093	0.0:0.0:0.0:1.0	.	193;193	B4DSK9;Q13547	.;HDAC1_HUMAN	A	193;168	ENSP00000362649:V193A;ENSP00000407859:V168A	ENSP00000362649:V193A	V	+	2	0	HDAC1	32565807	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.868000	0.87116	2.050000	0.60909	0.533000	0.62120	GTC		0.542	HDAC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019815.3	NM_004964		13	44	0	0	0	1	0	13	44					C	32793220	T	C	32793220	3	2	435	1	0	0	0	0	1	0	0	0	7004	1667	58	4	600	4	HDAC1	1	32793220	Missense_Mutation	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	80037	32793220	216457401	223	21148											
ZBTB8A	653121	broad.mit.edu	37	chr1	33058588	33058588	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcaactgaacgagcagcgcaGgcaagatgtattttgtgact	12	9	12	8	2	0	3	0	2	0	1	0	4	0	3	0	1	4	5	0	1	4	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:33058588G>T	ENST00000373510.4	+	3	285	c.56G>T	c.(55-57)aGg>aTg	p.R19M	RP1-27O5.3_ENST00000480336.1_3'UTR|ZBTB8A_ENST00000316459.4_Missense_Mutation_p.R19M	NM_001040441.1	NP_001035531.1	Q96BR9	ZBT8A_HUMAN	zinc finger and BTB domain containing 8A	19					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			cervix(2)|large_intestine(2)|lung(2)|prostate(1)	7						GAGCAGCGCAGGCAAGATGTA	0.428																																						ENST00000373510.4																			0				cervix(2)|large_intestine(2)|lung(2)|prostate(1)	7						c.(55-57)aGg>aTg		zinc finger and BTB domain containing 8A							69	63	65					1																	33058588		2203	4300	6503	SO:0001583	missense	653121				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:33058588G>T	AF548353	CCDS30664.1	1p34.3	2013-01-08	2009-03-25	2009-03-25	ENSG00000160062	ENSG00000160062		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	24172	protein-coding gene	gene with protein product			"zinc finger and BTB domain containing 8"	ZBTB8		12477932	Standard	NM_001040441		Approved	BOZF1, FLJ90065, ZNF916A	uc001bvn.3	Q96BR9	OTTHUMG00000007855	ENST00000373510.4:c.56G>T	1.37:g.33058588G>T	ENSP00000362609:p.Arg19Met					ZBTB8A_ENST00000316459.4_Missense_Mutation_p.R19M|RP1-27O5.3_ENST00000480336.1_3'UTR	p.R19M	NM_001040441.1	NP_001035531.1	Q96BR9	ZBT8A_HUMAN			3	285	+			19					Q8IUL5|Q8IWR9|Q8N2Y5|Q96BX0	Missense_Mutation	SNP	ENST00000373510.4	37	c.56G>T	CCDS30664.1	.	.	.	.	.	.	.	.	.	.	G	18.85	3.710479	0.68730	.	.	ENSG00000160062	ENST00000373510;ENST00000316459	T;T	0.68331	-0.32;-0.32	5.32	5.32	0.75619	BTB/POZ (1);BTB/POZ fold (2);	0.119539	0.53938	U	0.000060	T	0.74450	0.3718	L	0.35487	1.065	0.40741	D	0.98283	D;D	0.76494	0.988;0.999	D;D	0.73708	0.961;0.981	T	0.74731	-0.3566	10	0.44086	T	0.13	-14.9683	18.3637	0.90384	0.0:0.0:1.0:0.0	.	19;19	Q96BR9;D3DPQ1	ZBT8A_HUMAN;.	M	19	ENSP00000362609:R19M;ENSP00000317561:R19M	ENSP00000317561:R19M	R	+	2	0	ZBTB8A	32831175	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.207000	0.51106	2.651000	0.90000	0.585000	0.79938	AGG		0.428	ZBTB8A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021665.2	NM_144621		23	32	1	0	7.87624e-14	1	8.57347e-14	23	32					T	33058588	G	T	33058588	3	4	435	1	0	0	0	0	1	0	0	0	17553	1000	35	5	58	5	ZBTB8A	1	33058588	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	265368	33058588	216192033	224	21149											
ZBTB8A	653121	broad.mit.edu	37	chr1	33058779	33058779	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttacagttatcttggacttcGtatattctggcaaactgtct	9	17	7	8	1	3	0	0	0	3	0	4	1	3	1	0	2	2	3	0	2	5	7			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:33058779G>A	ENST00000373510.4	+	3	476	c.247G>A	c.(247-249)Gta>Ata	p.V83I	RP1-27O5.3_ENST00000480336.1_3'UTR|ZBTB8A_ENST00000316459.4_Missense_Mutation_p.V83I	NM_001040441.1	NP_001035531.1	Q96BR9	ZBT8A_HUMAN	zinc finger and BTB domain containing 8A	83	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			cervix(2)|large_intestine(2)|lung(2)|prostate(1)	7						CTTGGACTTCGTATATTCTGG	0.418																																						ENST00000373510.4																			0				cervix(2)|large_intestine(2)|lung(2)|prostate(1)	7						c.(247-249)Gta>Ata		zinc finger and BTB domain containing 8A							113	108	110					1																	33058779		2203	4300	6503	SO:0001583	missense	653121				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:33058779G>A	AF548353	CCDS30664.1	1p34.3	2013-01-08	2009-03-25	2009-03-25	ENSG00000160062	ENSG00000160062		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	24172	protein-coding gene	gene with protein product			"zinc finger and BTB domain containing 8"	ZBTB8		12477932	Standard	NM_001040441		Approved	BOZF1, FLJ90065, ZNF916A	uc001bvn.3	Q96BR9	OTTHUMG00000007855	ENST00000373510.4:c.247G>A	1.37:g.33058779G>A	ENSP00000362609:p.Val83Ile					ZBTB8A_ENST00000316459.4_Missense_Mutation_p.V83I|RP1-27O5.3_ENST00000480336.1_3'UTR	p.V83I	NM_001040441.1	NP_001035531.1	Q96BR9	ZBT8A_HUMAN			3	476	+			83			BTB.		Q8IUL5|Q8IWR9|Q8N2Y5|Q96BX0	Missense_Mutation	SNP	ENST00000373510.4	37	c.247G>A	CCDS30664.1	.	.	.	.	.	.	.	.	.	.	G	16.24	3.068068	0.55539	.	.	ENSG00000160062	ENST00000373510;ENST00000316459	T;T	0.68331	-0.32;-0.32	5.32	5.32	0.75619	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.140555	0.47093	U	0.000250	T	0.42675	0.1213	N	0.02286	-0.61	0.39462	D	0.967582	P;P	0.42973	0.622;0.796	B;B	0.40782	0.34;0.252	T	0.49995	-0.8879	10	0.10111	T	0.7	-11.1661	18.3637	0.90384	0.0:0.0:1.0:0.0	.	83;83	Q96BR9;D3DPQ1	ZBT8A_HUMAN;.	I	83	ENSP00000362609:V83I;ENSP00000317561:V83I	ENSP00000317561:V83I	V	+	1	0	ZBTB8A	32831366	1.000000	0.71417	0.988000	0.46212	0.961000	0.63080	6.113000	0.71553	2.651000	0.90000	0.585000	0.79938	GTA		0.418	ZBTB8A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021665.2	NM_144621		61	65	0	0	0	1	0	61	65					A	33058779	G	A	33058779	3	1	435	1	0	0	0	0	1	0	0	0	17553	1145	40	1	249	1	ZBTB8A	1	33058779	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	191	33058779	216191842	225	21150											
RBBP4	5928	broad.mit.edu	37	chr1	33123147	33123147	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgatgatgctcagtttgatgCgtcacactacgacagtgaga	11	11	11	8	2	2	4	2	4	0	1	2	6	2	4	0	0	3	2	0	0	1	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:33123147C>T	ENST00000373493.5	+	3	443	c.284C>T	c.(283-285)gCg>gTg	p.A95V	RBBP4_ENST00000373485.1_Missense_Mutation_p.A95V|RBBP4_ENST00000414241.3_Missense_Mutation_p.A94V|RBBP4_ENST00000524393.1_Intron|RBBP4_ENST00000544435.1_Intron|RBBP4_ENST00000458695.2_Missense_Mutation_p.A60V	NM_001135255.1|NM_005610.2	NP_001128727.1|NP_005601.1	Q09028	RBBP4_HUMAN	retinoblastoma binding protein 4	95					ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|CENP-A containing nucleosome assembly (GO:0034080)|chromatin assembly (GO:0031497)|chromatin remodeling (GO:0006338)|DNA replication (GO:0006260)|DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|negative regulation of cell proliferation (GO:0008285)|nucleosome assembly (GO:0006334)|regulation of cell cycle (GO:0051726)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	CAF-1 complex (GO:0033186)|ESC/E(Z) complex (GO:0035098)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|NuRD complex (GO:0016581)|NURF complex (GO:0016589)|protein complex (GO:0043234)|Sin3 complex (GO:0016580)	histone binding (GO:0042393)|histone deacetylase binding (GO:0042826)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(4)|ovary(1)|prostate(4)|urinary_tract(1)	15		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)				CAGTTTGATGCGTCACACTAC	0.423																																						ENST00000373493.5																			0				breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(4)|ovary(1)|prostate(4)|urinary_tract(1)	15						c.(283-285)gCg>gTg		retinoblastoma binding protein 4							118	98	105					1																	33123147		2203	4300	6503	SO:0001583	missense	5928				cell cycle|CenH3-containing nucleosome assembly at centromere|DNA replication|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	CAF-1 complex|ESC/E(Z) complex|NuRD complex|NURF complex|Sin3 complex	histone binding|histone deacetylase binding	g.chr1:33123147C>T	BC053904	CCDS366.1, CCDS44105.1, CCDS44106.1	1p35.1	2014-07-17	2001-11-28		ENSG00000162521	ENSG00000162521		"WD repeat domain containing"	9887	protein-coding gene	gene with protein product		602923	"retinoblastoma-binding protein 4"			8350924, 14609955, 17531812	Standard	NM_005610		Approved	RbAp48, NURF55, lin-53	uc001bvr.3	Q09028	OTTHUMG00000007998	ENST00000373493.5:c.284C>T	1.37:g.33123147C>T	ENSP00000362592:p.Ala95Val					RBBP4_ENST00000414241.3_Missense_Mutation_p.A94V|RBBP4_ENST00000458695.2_Missense_Mutation_p.A60V|RBBP4_ENST00000373485.1_Missense_Mutation_p.A95V|RBBP4_ENST00000544435.1_Intron|RBBP4_ENST00000524393.1_Intron	p.A95V	NM_001135255.1|NM_005610.2	NP_001128727.1|NP_005601.1	Q09028	RBBP4_HUMAN			3	443	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)	95					B2R6G9|B4DRH0|D3DPQ3|P31149|Q53H02|Q96BV9	Missense_Mutation	SNP	ENST00000373493.5	37	c.284C>T	CCDS366.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.268831	0.80469	.	.	ENSG00000162521	ENST00000414241;ENST00000373493;ENST00000373485;ENST00000458695;ENST00000490500;ENST00000445722	T;T;T;T	0.69926	-0.4;-0.44;-0.33;-0.43	5.13	5.13	0.70059	.	0.000000	0.85682	D	0.000000	T	0.63271	0.2497	L	0.55834	1.745	0.80722	D	1	B;B	0.23185	0.02;0.081	B;B	0.20184	0.027;0.028	T	0.58923	-0.7550	10	0.27785	T	0.31	.	17.9525	0.89058	0.0:1.0:0.0:0.0	.	94;95	Q09028-2;Q09028	.;RBBP4_HUMAN	V	94;95;95;60;60;60	ENSP00000398242:A94V;ENSP00000362592:A95V;ENSP00000362584:A95V;ENSP00000396057:A60V	ENSP00000362584:A95V	A	+	2	0	RBBP4	32895734	1.000000	0.71417	0.987000	0.45799	0.914000	0.54420	7.734000	0.84928	2.559000	0.86315	0.491000	0.48974	GCG		0.423	RBBP4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000021957.3	NM_005610		20	34	0	0	0	1	0	20	34					T	33123147	C	T	33123147	3	4	435	1	0	0	0	0	1	0	0	0	13101	768	27	1	294	1	RBBP4	1	33123147	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	64368	33123147	216127474	226	21151											
KIAA1522	57648	broad.mit.edu	37	chr1	33235718	33235718	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tggccggtccacgggtacccGggccccaccattgacccggc	5	5	13	18	4	0	1	0	1	0	0	1	1	1	1	7	5	1	1	7	5	1	2	rs565146691		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:33235718G>A	ENST00000373480.1	+	6	864	c.761G>A	c.(760-762)cGg>cAg	p.R254Q	KIAA1522_ENST00000401073.2_Missense_Mutation_p.R313Q|KIAA1522_ENST00000294521.3_Intron|KIAA1522_ENST00000373481.3_Missense_Mutation_p.R265Q	NM_001198972.1	NP_001185901.1	Q9P206	K1522_HUMAN	KIAA1522	254										breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)				ACGGGTACCCGGGCCCCACCA	0.677													G|||	1	0.000199681	0	0	5008	,	,		15092	0		0	False		,,,				2504	0.001					ENST00000401073.2																			0				breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	24						c.(937-939)cGg>cAg		KIAA1522							33	38	36					1																	33235718		2001	4144	6145	SO:0001583	missense	57648							g.chr1:33235718G>A	AL713671	CCDS41298.1, CCDS55588.1, CCDS55589.1	1p35.1	2009-02-18			ENSG00000162522	ENSG00000162522			29301	protein-coding gene	gene with protein product						10819331	Standard	NM_020888		Approved		uc001bvu.1	Q9P206	OTTHUMG00000008088	ENST00000373480.1:c.761G>A	1.37:g.33235718G>A	ENSP00000362579:p.Arg254Gln					KIAA1522_ENST00000294521.3_Intron|KIAA1522_ENST00000373481.3_Missense_Mutation_p.R265Q|KIAA1522_ENST00000373480.1_Missense_Mutation_p.R254Q	p.R313Q	NM_020888.2	NP_065939.2	Q9P206	K1522_HUMAN			6	1008	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)	254					B4DQU8|B5MDY0|C9JH84|Q8TCQ0	Missense_Mutation	SNP	ENST00000373480.1	37	c.938G>A	CCDS55588.1	.	.	.	.	.	.	.	.	.	.	G	9.497	1.102222	0.20632	.	.	ENSG00000162522	ENST00000401073;ENST00000373481;ENST00000373480	T;T;T	0.32753	1.44;1.44;1.44	4.39	2.47	0.30058	.	0.232883	0.28476	N	0.015204	T	0.12008	0.0292	N	0.16478	0.41	0.30433	N	0.776965	P;P;P	0.42649	0.614;0.786;0.786	B;B;B	0.30572	0.044;0.117;0.117	T	0.10497	-1.0627	10	0.30078	T	0.28	-13.5309	4.9617	0.14070	0.4613:0.0:0.5387:0.0	.	265;254;313	Q9P206-3;Q9P206;Q9P206-2	.;K1522_HUMAN;.	Q	313;265;254	ENSP00000383851:R313Q;ENSP00000362580:R265Q;ENSP00000362579:R254Q	ENSP00000362579:R254Q	R	+	2	0	KIAA1522	33008305	1.000000	0.71417	0.993000	0.49108	0.326000	0.28443	3.025000	0.49681	0.965000	0.38133	0.491000	0.48974	CGG		0.677	KIAA1522-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000022130.1			16	19	0	0	0	1	0	16	19					A	33235718	G	A	33235718	3	1	435	1	0	0	0	0	1	0	0	0	8238	1116	39	2	960	2	KIAA1522	1	33235718	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	112571	33235718	216014903	227	21152											
KIAA1522	57648	broad.mit.edu	37	chr1	33237579	33237579	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcctcagggctccatgctgcGgtccgactcaaggcctgcag	6	8	12	15	2	2	0	2	0	0	0	5	1	5	0	4	3	3	3	4	3	1	0	rs541330268	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:33237579G>A	ENST00000373480.1	+	6	2725	c.2622G>A	c.(2620-2622)gcG>gcA	p.A874A	KIAA1522_ENST00000401073.2_Silent_p.A933A|KIAA1522_ENST00000294521.3_Intron|KIAA1522_ENST00000373481.3_Silent_p.A885A	NM_001198972.1	NP_001185901.1	Q9P206	K1522_HUMAN	KIAA1522	874	Pro-rich.									breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)				TCCATGCTGCGGTCCGACTCA	0.711													C|||	3	0.000599042	0	0	5008	,	,		12971	0		0	False		,,,				2504	0.0031					ENST00000401073.2																			0				breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	24						c.(2797-2799)gcG>gcA		KIAA1522							10	12	12					1																	33237579		1909	4098	6007	SO:0001819	synonymous_variant	57648							g.chr1:33237579G>A	AL713671	CCDS41298.1, CCDS55588.1, CCDS55589.1	1p35.1	2009-02-18			ENSG00000162522	ENSG00000162522			29301	protein-coding gene	gene with protein product						10819331	Standard	NM_020888		Approved		uc001bvu.1	Q9P206	OTTHUMG00000008088	ENST00000373480.1:c.2622G>A	1.37:g.33237579G>A						KIAA1522_ENST00000294521.3_Intron|KIAA1522_ENST00000373481.3_Silent_p.A885A|KIAA1522_ENST00000373480.1_Silent_p.A874A	p.A933A	NM_020888.2	NP_065939.2	Q9P206	K1522_HUMAN			6	2869	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)	874			Pro-rich.		B4DQU8|B5MDY0|C9JH84|Q8TCQ0	Silent	SNP	ENST00000373480.1	37	c.2799G>A	CCDS55588.1																																																																																				0.711	KIAA1522-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000022130.1			6	6	0	0	0	1	0	6	6					A	33237579	G	A	33237579	2	1	435	1	0	0	0	0	0	0	0	1	8238	1103	39	2		2	KIAA1522	1	33237579	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	1861	33237579	216013042	228	21153											
YARS	8565	broad.mit.edu	37	chr1	33246678	33246678	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agtgatgattttccccacacGgatatccagccgggatggga	10	9	12	10	2	0	2	0	2	0	0	2	5	2	5	4	3	1	0	4	3	1	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:33246678G>A	ENST00000373477.4	-	10	2019	c.1111C>T	c.(1111-1113)Cgt>Tgt	p.R371C	YARS_ENST00000469100.1_5'UTR	NM_003680.3	NP_003671.1	P54577	SYYC_HUMAN	tyrosyl-tRNA synthetase	371	tRNA-binding. {ECO:0000255|PROSITE- ProRule:PRU00209}.				apoptotic process (GO:0006915)|gene expression (GO:0010467)|signal transduction (GO:0007165)|tRNA aminoacylation for protein translation (GO:0006418)|tyrosyl-tRNA aminoacylation (GO:0006437)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|nucleus (GO:0005634)	ATP binding (GO:0005524)|interleukin-8 receptor binding (GO:0005153)|poly(A) RNA binding (GO:0044822)|signal transducer activity (GO:0004871)|tRNA binding (GO:0000049)|tyrosine-tRNA ligase activity (GO:0004831)			endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|skin(2)|urinary_tract(1)	15		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)			L-Tyrosine(DB00135)	TTCCCCACACGGATATCCAGC	0.507																																						ENST00000373477.4																			0				endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|skin(2)|urinary_tract(1)	15						c.(1111-1113)Cgt>Tgt		tyrosyl-tRNA synthetase	L-Tyrosine(DB00135)						135	122	127					1																	33246678		2203	4300	6503	SO:0001583	missense	8565				apoptosis|tyrosyl-tRNA aminoacylation	cytosol|extracellular space|nucleus|soluble fraction	ATP binding|interleukin-8 receptor binding|signal transducer activity|tRNA binding|tyrosine-tRNA ligase activity	g.chr1:33246678G>A	U89436	CCDS368.1	1p35.1	2014-09-17			ENSG00000134684	ENSG00000134684	6.1.1.1	"Aminoacyl tRNA synthetases / Class I"	12840	protein-coding gene	gene with protein product	"tyrosine tRNA ligase 1, cytoplasmic"	603623				8552597, 9162081	Standard	NM_003680		Approved	YTS, YRS, tyrRS	uc001bvy.1	P54577	OTTHUMG00000003933	ENST00000373477.4:c.1111C>T	1.37:g.33246678G>A	ENSP00000362576:p.Arg371Cys					YARS_ENST00000469100.1_5'UTR	p.R371C	NM_003680.3	NP_003671.1	P54577	SYYC_HUMAN			10	2019	-		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)	371			tRNA-binding.		B3KWK4|D3DPQ4|O43276|Q53EN1	Missense_Mutation	SNP	ENST00000373477.4	37	c.1111C>T	CCDS368.1	.	.	.	.	.	.	.	.	.	.	G	24.4	4.530468	0.85706	.	.	ENSG00000134684	ENST00000373477	T	0.78246	-1.16	5.47	5.47	0.80525	Nucleic acid-binding, OB-fold-like (1);tRNA-binding domain (2);Nucleic acid-binding, OB-fold (1);	0.000000	0.85682	D	0.000000	D	0.92280	0.7551	H	0.97077	3.935	0.80722	D	1	D	0.89917	1.0	D	0.76575	0.988	D	0.94248	0.7491	10	0.66056	D	0.02	-8.3645	17.8828	0.88845	0.0:0.0:1.0:0.0	.	371	P54577	SYYC_HUMAN	C	371	ENSP00000362576:R371C	ENSP00000362576:R371C	R	-	1	0	YARS	33019265	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.441000	0.66569	2.735000	0.93741	0.591000	0.81541	CGT		0.507	YARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011225.1	NM_003680		32	52	0	0	0	1	0	32	52					A	33246678	G	A	33246678	3	1	435	1	0	0	0	0	1	0	0	0	17464	1116	39	2	491	2	YARS	1	33246678	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	9099	33246678	216003943	229	21154											
YARS	8565	broad.mit.edu	37	chr1	33272105	33272105	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gcagtccggggtataagaggCcactcagcaaagggtgctcc	10	6	14	11	1	1	1	1	0	0	1	3	1	3	1	3	4	2	4	3	4	3	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:33272105C>T	ENST00000373477.4	-	4	1396	c.488G>A	c.(487-489)gGc>gAc	p.G163D		NM_003680.3	NP_003671.1	P54577	SYYC_HUMAN	tyrosyl-tRNA synthetase	163					apoptotic process (GO:0006915)|gene expression (GO:0010467)|signal transduction (GO:0007165)|tRNA aminoacylation for protein translation (GO:0006418)|tyrosyl-tRNA aminoacylation (GO:0006437)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|nucleus (GO:0005634)	ATP binding (GO:0005524)|interleukin-8 receptor binding (GO:0005153)|poly(A) RNA binding (GO:0044822)|signal transducer activity (GO:0004871)|tRNA binding (GO:0000049)|tyrosine-tRNA ligase activity (GO:0004831)			endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|skin(2)|urinary_tract(1)	15		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)			L-Tyrosine(DB00135)	GTATAAGAGGCCACTCAGCAA	0.522																																						ENST00000373477.4																			0				endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|skin(2)|urinary_tract(1)	15						c.(487-489)gGc>gAc		tyrosyl-tRNA synthetase	L-Tyrosine(DB00135)						172	161	165					1																	33272105		2203	4300	6503	SO:0001583	missense	8565				apoptosis|tyrosyl-tRNA aminoacylation	cytosol|extracellular space|nucleus|soluble fraction	ATP binding|interleukin-8 receptor binding|signal transducer activity|tRNA binding|tyrosine-tRNA ligase activity	g.chr1:33272105C>T	U89436	CCDS368.1	1p35.1	2014-09-17			ENSG00000134684	ENSG00000134684	6.1.1.1	"Aminoacyl tRNA synthetases / Class I"	12840	protein-coding gene	gene with protein product	"tyrosine tRNA ligase 1, cytoplasmic"	603623				8552597, 9162081	Standard	NM_003680		Approved	YTS, YRS, tyrRS	uc001bvy.1	P54577	OTTHUMG00000003933	ENST00000373477.4:c.488G>A	1.37:g.33272105C>T	ENSP00000362576:p.Gly163Asp						p.G163D	NM_003680.3	NP_003671.1	P54577	SYYC_HUMAN			4	1396	-		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)	163					B3KWK4|D3DPQ4|O43276|Q53EN1	Missense_Mutation	SNP	ENST00000373477.4	37	c.488G>A	CCDS368.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.294450	0.81025	.	.	ENSG00000134684	ENST00000373477	T	0.50277	0.75	4.92	4.92	0.64577	Rossmann-like alpha/beta/alpha sandwich fold (1);	0.046408	0.85682	D	0.000000	T	0.78285	0.4259	H	0.94582	3.555	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.85059	0.0933	10	0.72032	D	0.01	-11.5842	18.5477	0.91053	0.0:1.0:0.0:0.0	.	163	P54577	SYYC_HUMAN	D	163	ENSP00000362576:G163D	ENSP00000362576:G163D	G	-	2	0	YARS	33044692	1.000000	0.71417	0.994000	0.49952	0.360000	0.29518	7.487000	0.81328	2.463000	0.83235	0.557000	0.71058	GGC		0.522	YARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011225.1	NM_003680		57	81	0	0	0	1	0	57	81					T	33272105	C	T	33272105	3	4	435	1	0	0	0	0	1	0	0	0	17464	739	26	3	1138	3	YARS	1	33272105	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	25427	33272105	215978516	230	21155											
S100PBP	64766	broad.mit.edu	37	chr1	33292352	33292352	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agctctcttcttcaaacaatAactttcaacagactgtctct	12	14	3	12	0	5	1	2	0	3	1	7	1	5	1	0	0	4	1	0	0	4	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:33292352A>G	ENST00000373475.5	+	3	906	c.652A>G	c.(652-654)Aac>Gac	p.N218D	S100PBP_ENST00000398243.3_Missense_Mutation_p.N218D|S100PBP_ENST00000373476.1_Missense_Mutation_p.N218D|S100PBP_ENST00000356689.3_3'UTR	NM_022753.3	NP_073590.2			S100P binding protein											endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|stomach(1)	16		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)				TTCAAACAATAACTTTCAACA	0.438																																						ENST00000373475.5																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|stomach(1)	16						c.(652-654)Aac>Gac		S100P binding protein							69	75	73					1																	33292352		2203	4300	6503	SO:0001583	missense	64766					nucleus	calcium-dependent protein binding	g.chr1:33292352A>G	BX647916	CCDS30666.1	1p35.1	2008-02-05			ENSG00000116497	ENSG00000116497			25768	protein-coding gene	gene with protein product	"S100P binding protein 1"	611889				12477932	Standard	NM_022753		Approved	FLJ12903, S100PBPR	uc001bwc.4	Q96BU1	OTTHUMG00000003955	ENST00000373475.5:c.652A>G	1.37:g.33292352A>G	ENSP00000362574:p.Asn218Asp					S100PBP_ENST00000356689.3_3'UTR|S100PBP_ENST00000398243.3_Missense_Mutation_p.N218D|S100PBP_ENST00000373476.1_Missense_Mutation_p.N218D	p.N218D	NM_022753.3	NP_073590.2	Q96BU1	S1PBP_HUMAN			3	906	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)	218						Missense_Mutation	SNP	ENST00000373475.5	37	c.652A>G	CCDS30666.1	.	.	.	.	.	.	.	.	.	.	A	2.884	-0.231253	0.05983	.	.	ENSG00000116497	ENST00000373476;ENST00000373475;ENST00000531123;ENST00000398243;ENST00000356689	.	.	.	5.85	2.23	0.28157	.	0.681043	0.14659	N	0.306055	T	0.23492	0.0568	N	0.17082	0.46	0.09310	N	1	B;B	0.17667	0.023;0.005	B;B	0.14578	0.011;0.007	T	0.19582	-1.0301	8	.	.	.	-0.1911	7.9177	0.29827	0.7541:0.0:0.2459:0.0	.	218;218	A8MTZ6;Q96BU1	.;S1PBP_HUMAN	D	218	.	.	N	+	1	0	S100PBP	33064939	0.940000	0.31905	0.019000	0.16419	0.018000	0.09664	1.156000	0.31712	0.560000	0.29169	0.533000	0.62120	AAC		0.438	S100PBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011266.1	NM_022753		25	35	0	0	0	1	0	25	35					G	33292352	A	G	33292352	3	3	435	1	0	0	0	0	1	0	0	0	13791	362	13	4	654	4	S100PBP	1	33292352	Missense_Mutation	SNP	A	TCGA-XK-AAIW-01A-11D-A41K-08	20247	33292352	215958269	231	21156											
RNF19B	127544	broad.mit.edu	37	chr1	33402616	33402616	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agaactctctaggtcactgcGgatgctttcaggctgggcca	8	10	12	11	1	3	1	2	0	1	1	4	2	3	2	1	4	3	2	1	4	2	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:33402616G>A	ENST00000373456.7	-	9	1989	c.1990C>T	c.(1990-1992)Cgc>Tgc	p.R664C	RNF19B_ENST00000235150.4_Missense_Mutation_p.R663C|RNF19B_ENST00000356990.5_3'UTR	NM_153341.2	NP_699172.2	Q6ZMZ0	RN19B_HUMAN	ring finger protein 19B	664					interferon-gamma secretion (GO:0072643)|natural killer cell mediated cytotoxicity (GO:0042267)|protein ubiquitination (GO:0016567)	cytolytic granule (GO:0044194)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)	p.R473S(1)		endometrium(4)|kidney(2)|large_intestine(3)|lung(4)	13		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				AGGTCACTGCGGATGCTTTCA	0.582																																						ENST00000373456.7																			1	Substitution - Missense(1)	p.R473S(1)	lung(1)	endometrium(4)|kidney(2)|large_intestine(3)|lung(4)	13						c.(1990-1992)Cgc>Tgc		ring finger protein 19B							110	102	105					1																	33402616		2203	4300	6503	SO:0001583	missense	127544					integral to membrane	ligase activity|protein binding|zinc ion binding	g.chr1:33402616G>A	AK074486	CCDS372.2, CCDS44107.1, CCDS72754.1	1p35.1	2010-05-11	2007-08-20	2007-08-20	ENSG00000116514	ENSG00000116514		"RING-type (C3HC4) zinc fingers"	26886	protein-coding gene	gene with protein product		610872	"IBR domain containing 3"	IBRDC3		12477932	Standard	XM_006710356		Approved	FLJ90005	uc010oho.2	Q6ZMZ0	OTTHUMG00000004013	ENST00000373456.7:c.1990C>T	1.37:g.33402616G>A	ENSP00000362555:p.Arg664Cys					RNF19B_ENST00000356990.5_3'UTR|RNF19B_ENST00000235150.4_Missense_Mutation_p.R663C	p.R664C	NM_153341.2	NP_699172.2	Q6ZMZ0	RN19B_HUMAN			9	1989	-		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)	664					B7ZLB2|E9PAW6|G3XA82|Q0VG77|Q5TH44|Q5TH45|Q6P6A4|Q8N2S8|Q8WUF3	Missense_Mutation	SNP	ENST00000373456.7	37	c.1990C>T	CCDS372.2	.	.	.	.	.	.	.	.	.	.	G	19.85	3.903585	0.72754	.	.	ENSG00000116514	ENST00000373456;ENST00000235150	T;T	0.38722	1.12;1.13	4.91	2.9	0.33743	.	0.055936	0.64402	D	0.000001	T	0.29914	0.0748	L	0.38175	1.15	0.58432	D	0.999992	B;B	0.31640	0.333;0.225	B;B	0.25506	0.061;0.028	T	0.21895	-1.0232	10	0.72032	D	0.01	.	10.1354	0.42704	0.076:0.0:0.7888:0.1352	.	663;664	G3XA82;Q6ZMZ0	.;RN19B_HUMAN	C	664;663	ENSP00000362555:R664C;ENSP00000235150:R663C	ENSP00000235150:R663C	R	-	1	0	RNF19B	33175203	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.404000	0.79996	1.202000	0.43218	0.537000	0.68136	CGC		0.582	RNF19B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000011465.3	NM_153341		36	40	0	0	0	1	0	36	40					A	33402616	G	A	33402616	3	1	435	1	0	0	0	0	1	0	0	0	13471	1116	39	2	212	2	RNF19B	1	33402616	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	110264	33402616	215848005	232	21157											
AK2	204	broad.mit.edu	37	chr1	33486968	33486968	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaccttcaagggacaaatacCttcctgtgattcttcggatc	10	12	8	11	1	2	1	1	1	1	0	5	4	3	3	3	2	1	0	3	2	3	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:33486968C>A	ENST00000487289.1	-	4	440	c.425G>T	c.(424-426)aGc>aTc	p.S142I	AK2_ENST00000480134.1_Intron|AK2_ENST00000373449.2_Splice_Site_p.R142M|RP1-117O3.2_ENST00000427524.1_RNA|AK2_ENST00000354858.6_Splice_Site_p.R142M|AK2_ENST00000548033.1_Splice_Site_p.R100M|AK2_ENST00000467905.1_Splice_Site_p.R142M					adenylate kinase 2											kidney(1)|large_intestine(2)|lung(4)|skin(1)	8		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)				GGACAAATACCTTCCTGTGAT	0.453																																						ENST00000373449.2																			0				kidney(1)|large_intestine(2)|lung(4)|skin(1)	8						c.e4+1		adenylate kinase 2							83	79	81					1																	33486968		2203	4300	6503	SO:0001630	splice_region_variant	204				nucleobase, nucleoside and nucleotide interconversion	mitochondrial intermembrane space	adenylate kinase activity|ATP binding	g.chr1:33486968C>A	U84371	CCDS373.1, CCDS374.1	1p35.1	2014-09-17			ENSG00000004455	ENSG00000004455	2.7.4.3	"Adenylate kinases"	362	protein-coding gene	gene with protein product		103020				8843353, 6961883	Standard	NM_013411		Approved		uc001bwp.2	P54819	OTTHUMG00000004131	ENST00000487289.1:c.425+1G>T	1.37:g.33486968C>A						AK2_ENST00000354858.6_Splice_Site_p.R142_splice|RP1-117O3.2_ENST00000427524.1_RNA|AK2_ENST00000548033.1_Splice_Site_p.R100_splice|AK2_ENST00000480134.1_Intron|AK2_ENST00000487289.1_Splice_Site_p.S142_splice|AK2_ENST00000467905.1_Splice_Site_p.R142_splice	p.R142_splice	NM_001199199.1|NM_013411.4	NP_001186128.1|NP_037543.1	P54819	KAD2_HUMAN			4	466	-		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)	142						Splice_Site	SNP	ENST00000487289.1	37	c.425_splice		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	29.1|29.1	4.979089|4.979089	0.92982|0.92982	.|.	.|.	ENSG00000004455|ENSG00000004455	ENST00000373449;ENST00000548033;ENST00000467905;ENST00000354858;ENST00000398192|ENST00000487289	D;D;D;D|T	0.99656|0.76578	-6.31;-6.31;-6.31;-6.31|-1.03	5.35|5.35	5.35|5.35	0.76521|0.76521	Adenylate kinase, active site lid domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.94853|0.94853	0.8337|0.8337	H|H	0.99959|0.99959	5.06|5.06	0.33688|0.33688	D|D	0.612961|0.612961	D;D;D|.	0.89917|.	1.0;1.0;1.0|.	D;D;D|.	0.97110|.	0.987;1.0;1.0|.	D|D	0.98487|0.98487	1.0608|1.0608	9|6	.|.	.|.	.|.	-27.1146|-27.1146	19.9585|19.9585	0.97232|0.97232	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	100;142;142|.	F8VY04;P54819;P54819-2|.	.;KAD2_HUMAN;.|.	M|I	142;100;142;142;142|142	ENSP00000362548:R142M;ENSP00000449003:R100M;ENSP00000447082:R142M;ENSP00000346921:R142M|ENSP00000446849:S142I	.|.	R|S	-|-	2|2	0|0	AK2|AK2	33259555|33259555	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.983000|0.983000	0.72400|0.72400	7.404000|7.404000	0.79996|0.79996	2.894000|2.894000	0.99253|0.99253	0.655000|0.655000	0.94253|0.94253	AGG|AGC		0.453	AK2-007	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000011889.4	NM_001625	Missense_Mutation	34	31	1	0	8.73648e-17	1	9.60375e-17	34	31					A	33486968	C	A	33486968	5	1	435	1	0	0	0	0	0	0	1	0	440	695	24	5	315	5	AK2	1	33486968	Splice_Site	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	84352	33486968	215763653	233	21158											
ADC	113451	broad.mit.edu	37	chr1	33560279	33560279	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tggaccttggtggtggcttcCctggcacagaaggggccaaa	8	8	15	10	0	0	1	0	0	0	1	1	2	1	2	3	7	0	2	3	7	2	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:33560279C>T	ENST00000294517.6	+	8	1305	c.718C>T	c.(718-720)Cct>Tct	p.P240S	ADC_ENST00000398167.1_Missense_Mutation_p.P240S|ADC_ENST00000373440.1_Intron|ADC_ENST00000484656.1_3'UTR|ADC_ENST00000373441.1_Missense_Mutation_p.P240S|ADC_ENST00000358680.3_Intron|ADC_ENST00000373443.3_Missense_Mutation_p.P240S	NM_052998.2	NP_443724.1	Q96A70	AZIN2_HUMAN		240					agmatine biosynthetic process (GO:0097055)|cellular nitrogen compound metabolic process (GO:0034641)|negative regulation of protein catabolic process (GO:0042177)|ornithine metabolic process (GO:0006591)|polyamine biosynthetic process (GO:0006596)|polyamine metabolic process (GO:0006595)|positive regulation of catalytic activity (GO:0043085)|positive regulation of polyamine transmembrane transport (GO:1902269)|putrescine transport (GO:0015847)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)|trans-Golgi network membrane organization (GO:0098629)	axon (GO:0030424)|cis-Golgi network (GO:0005801)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum-Golgi intermediate compartment membrane (GO:0033116)|granular vesicle (GO:1990005)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perikaryon (GO:0043204)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network (GO:0005802)|transport vesicle (GO:0030133)	catalytic activity (GO:0003824)|ornithine decarboxylase activator activity (GO:0042978)|putrescine transmembrane transporter activity (GO:0015489)			NS(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(2)	11		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)			L-Arginine(DB00125)	TGGTGGCTTCCCTGGCACAGA	0.577											OREG0013339	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000294517.6																			0				NS(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(2)	11						c.(718-720)Cct>Tct		arginine decarboxylase	L-Arginine(DB00125)|Pyridoxal Phosphate(DB00114)						78	80	80					1																	33560279		2203	4300	6503	SO:0001583	missense	113451				polyamine biosynthetic process|spermatogenesis	cytosol	arginine decarboxylase activity	g.chr1:33560279C>T																												ENST00000294517.6:c.718C>T	1.37:g.33560279C>T	ENSP00000294517:p.Pro240Ser		OREG0013339	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	841	ADC_ENST00000373443.3_Missense_Mutation_p.P240S|ADC_ENST00000398167.1_Missense_Mutation_p.P240S|ADC_ENST00000358680.3_Intron|ADC_ENST00000373440.1_Intron|ADC_ENST00000484656.1_3'UTR|ADC_ENST00000373441.1_Missense_Mutation_p.P240S	p.P240S	NM_052998.2	NP_443724.1	Q96A70	ADC_HUMAN			8	1305	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)	240					B2RDU5|D3DPQ9|Q5TIF4|Q5TIF5|Q5TIF6|Q8TF56|Q96L54|Q96L55|Q96L56|Q96L57|Q96MD9	Missense_Mutation	SNP	ENST00000294517.6	37	c.718C>T	CCDS375.1	.	.	.	.	.	.	.	.	.	.	C	28.9	4.960545	0.92791	.	.	ENSG00000142920	ENST00000294517;ENST00000341637;ENST00000373443;ENST00000398167;ENST00000373441	T;T;T;T	0.52526	0.66;0.66;0.66;0.66	5.33	5.33	0.75918	Orn/DAP/Arg decarboxylase 2, conserved site (1);Orn/DAP/Arg decarboxylase 2, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.71384	0.3333	M	0.80332	2.49	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;0.999;1.0;1.0	T	0.73288	-0.4030	10	0.52906	T	0.07	-8.0843	18.1576	0.89699	0.0:1.0:0.0:0.0	.	240;240;145;240	Q96A70-2;Q96A70-3;D3DPR0;Q96A70	.;.;.;ADC_HUMAN	S	240;252;240;240;240	ENSP00000294517:P240S;ENSP00000362542:P240S;ENSP00000381233:P240S;ENSP00000362540:P240S	ENSP00000294517:P240S	P	+	1	0	ADC	33332866	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.614000	0.82996	2.663000	0.90544	0.655000	0.94253	CCT		0.577	ADC-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011867.1			22	39	0	0	0	1	0	22	39					T	33560279	C	T	33560279	3	4	435	1	0	0	0	0	1	0	0	0	287	623	22	3	736	3	ADC	1	33560279	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	73311	33560279	215690342	234	21159											
TRIM62	55223	broad.mit.edu	37	chr1	33612987	33612987	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagcttgtcccggacgttaaGccgcgtccagggctccgtgc	6	8	13	14	5	0	0	0	0	0	0	3	1	3	1	4	2	3	3	4	2	2	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:33612987G>T	ENST00000291416.5	-	5	1452	c.1219C>A	c.(1219-1221)Ctt>Att	p.L407I	TRIM62_ENST00000543586.1_Missense_Mutation_p.L286I	NM_018207.2	NP_060677.2	Q9BVG3	TRI62_HUMAN	tripartite motif containing 62	407	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				innate immune response (GO:0045087)|negative regulation of viral transcription (GO:0032897)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein ubiquitination (GO:0016567)|regulation of viral entry into host cell (GO:0046596)|regulation of viral release from host cell (GO:1902186)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	15		Myeloproliferative disorder(586;0.0393)				CGGACGTTAAGCCGCGTCCAG	0.582																																						ENST00000291416.5																			0				endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						c.(1219-1221)Ctt>Att		tripartite motif containing 62							97	93	94					1																	33612987		2203	4300	6503	SO:0001583	missense	55223					intracellular	zinc ion binding	g.chr1:33612987G>T	BC007999	CCDS376.1	1p35.1	2013-10-11	2011-01-25		ENSG00000116525	ENSG00000116525		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	25574	protein-coding gene	gene with protein product	"ductal epithelium-associated RING Chromosome 1"		"tripartite motif-containing 62"			19536326	Standard	NM_018207		Approved	FLJ10759, DEAR1	uc001bxb.3	Q9BVG3	OTTHUMG00000004132	ENST00000291416.5:c.1219C>A	1.37:g.33612987G>T	ENSP00000291416:p.Leu407Ile					TRIM62_ENST00000543586.1_Missense_Mutation_p.L286I	p.L407I	NM_018207.2	NP_060677.2	Q9BVG3	TRI62_HUMAN			5	1452	-		Myeloproliferative disorder(586;0.0393)	407			B30.2/SPRY.		B3KVH5|B4DTE4|D3DPR1|Q9NVG0	Missense_Mutation	SNP	ENST00000291416.5	37	c.1219C>A	CCDS376.1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.448754	0.84101	.	.	ENSG00000116525	ENST00000291416;ENST00000543586	T;T	0.65364	-0.15;-0.15	5.68	4.76	0.60689	Concanavalin A-like lectin/glucanase (1);Butyrophylin-like (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.000000	0.85682	D	0.000000	T	0.75997	0.3926	M	0.67517	2.055	0.58432	D	0.999996	D	0.76494	0.999	D	0.87578	0.998	T	0.78054	-0.2354	10	0.66056	D	0.02	.	12.3042	0.54891	0.0826:0.0:0.9174:0.0	.	407	Q9BVG3	TRI62_HUMAN	I	407;286	ENSP00000291416:L407I;ENSP00000441173:L286I	ENSP00000291416:L407I	L	-	1	0	TRIM62	33385574	1.000000	0.71417	1.000000	0.80357	0.895000	0.52256	5.642000	0.67888	1.397000	0.46682	0.436000	0.28706	CTT		0.582	TRIM62-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011890.1	NM_018207		25	31	1	0	4.43304e-23	1	4.93775e-23	25	31					T	33612987	G	T	33612987	3	4	435	1	0	0	0	0	1	0	0	0	16534	971	34	5	212	5	TRIM62	1	33612987	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	52708	33612987	215637634	235	21160											
ZNF362	149076	broad.mit.edu	37	chr1	33747315	33747315	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ttgccaacgcctcctacctgGcccagcacctgcgcatccac	7	7	7	20	2	0	0	0	0	0	0	2	0	2	0	7	1	5	2	7	1	2	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:33747315G>A	ENST00000539719.1	+	6	981	c.811G>A	c.(811-813)Gcc>Acc	p.A271T	ZNF362_ENST00000373428.5_Missense_Mutation_p.A271T	NM_152493.2	NP_689706.2	Q5T0B9	ZN362_HUMAN	zinc finger protein 362	271					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|kidney(1)|large_intestine(4)|lung(2)	10		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				CTCCTACCTGGCCCAGCACCT	0.612																																					Pancreas(162;1431 2676 35353 38425)	ENST00000539719.1																			0				endometrium(3)|kidney(1)|large_intestine(4)|lung(2)	10						c.(811-813)Gcc>Acc		zinc finger protein 362							197	175	183					1																	33747315		2203	4300	6503	SO:0001583	missense	149076				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:33747315G>A		CCDS377.1	1p35.1	2013-01-08			ENSG00000160094	ENSG00000160094		"Zinc fingers, C2H2-type"	18079	protein-coding gene	gene with protein product	"rotund homolog (Drosophila)"						Standard	NM_152493		Approved	FLJ25476, lin-29, RN	uc001bxc.1	Q5T0B9	OTTHUMG00000004124	ENST00000539719.1:c.811G>A	1.37:g.33747315G>A	ENSP00000446335:p.Ala271Thr					ZNF362_ENST00000373428.5_Missense_Mutation_p.A271T	p.A271T	NM_152493.2	NP_689706.2	Q5T0B9	ZN362_HUMAN			6	981	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)	271					Q8WYU4	Missense_Mutation	SNP	ENST00000539719.1	37	c.811G>A	CCDS377.1	.	.	.	.	.	.	.	.	.	.	G	24.9	4.585587	0.86748	.	.	ENSG00000160094	ENST00000539719;ENST00000373428	T;T	0.08008	3.14;3.14	5.48	5.48	0.80851	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.185397	0.25968	N	0.027152	T	0.03871	0.0109	N	0.02213	-0.635	0.50467	D	0.999878	B	0.24963	0.115	B	0.24269	0.052	T	0.47661	-0.9100	10	0.09338	T	0.73	-26.802	16.855	0.86003	0.0:0.0:1.0:0.0	.	271	Q5T0B9	ZN362_HUMAN	T	271	ENSP00000446335:A271T;ENSP00000362527:A271T	ENSP00000362527:A271T	A	+	1	0	ZNF362	33519902	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.513000	0.60476	2.564000	0.86499	0.561000	0.74099	GCC		0.612	ZNF362-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011857.2	NM_152493		35	43	0	0	0	1	0	35	43					A	33747315	G	A	33747315	3	1	435	1	0	0	0	0	1	0	0	0	17865	1203	42	3	829	3	ZNF362	1	33747315	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	134328	33747315	215503306	236	21161											
CSMD2	114784	broad.mit.edu	37	chr1	33985438	33985438	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgtagagatagagcacgaaGcccgcaataatgagggcgat	14	7	13	7	3	0	3	0	1	0	2	0	6	0	3	1	1	2	3	1	1	5	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:33985438G>A	ENST00000373381.4	-	69	10886	c.10710C>T	c.(10708-10710)ggC>ggT	p.G3570G		NM_001281956.1|NM_052896.3	NP_001268885.1|NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	3426						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				AGAGCACGAAGCCCGCAATAA	0.627																																						ENST00000373381.4																			0				NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246						c.(10708-10710)ggC>ggT		CUB and Sushi multiple domains 2							46	46	46					1																	33985438		2203	4300	6503	SO:0001819	synonymous_variant	114784					integral to membrane|plasma membrane	protein binding	g.chr1:33985438G>A	AY210418	CCDS380.1, CCDS60082.1	1p34.3	2014-01-28			ENSG00000121904	ENSG00000121904			19290	protein-coding gene	gene with protein product		608398				11472063, 11572484	Standard	NM_001281956		Approved	KIAA1884	uc001bxn.1	Q7Z408	OTTHUMG00000011135	ENST00000373381.4:c.10710C>T	1.37:g.33985438G>A							p.G3570G	NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN			69	10886	-		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)	3426					B1AM50|E7EUA6|Q53TY4|Q5VT59|Q8N963|Q96Q03|Q9H4V7|Q9H4V8|Q9H4V9|Q9H4W0|Q9H4W1|Q9H4W2|Q9H4W3|Q9H4W4|Q9HCY5|Q9HCY6|Q9HCY7	Silent	SNP	ENST00000373381.4	37	c.10710C>T																																																																																					0.627	CSMD2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_052896		5	36	0	0	0	1	0	5	36					A	33985438	G	A	33985438	2	1	435	1	0	0	0	0	0	0	0	1	3945	958	34	3		3	CSMD2	1	33985438	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	238123	33985438	215265183	237	21162											
CSMD2	114784	broad.mit.edu	37	chr1	34006739	34006739	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccagacacacctttgcagaCgggcttggttccattccatg	8	10	9	14	1	0	2	0	0	0	2	2	2	2	2	4	2	1	3	4	2	0	4	rs139840174		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:34006739C>T	ENST00000373381.4	-	59	9624	c.9448G>A	c.(9448-9450)Gtc>Atc	p.V3150I		NM_001281956.1|NM_052896.3	NP_001268885.1|NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	3122	Sushi 25. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				CCTTTGCAGACGGGCTTGGTT	0.507													C|||	1	0.000199681	8e-04	0	5008	,	,		20872	0		0	False		,,,				2504	0					ENST00000373381.4																			0				NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246						c.(9448-9450)Gtc>Atc		CUB and Sushi multiple domains 2		C	ILE/VAL	1,4405	2.1+/-5.4	0,1,2202	167	156	159		9016	3.5	0.9	1	dbSNP_134	159	2,8598	2.2+/-6.3	0,2,4298	yes	missense	CSMD2	NM_052896.3	29	0,3,6500	TT,TC,CC		0.0233,0.0227,0.0231	benign	3006/3488	34006739	3,13003	2203	4300	6503	SO:0001583	missense	114784					integral to membrane|plasma membrane	protein binding	g.chr1:34006739C>T	AY210418	CCDS380.1, CCDS60082.1	1p34.3	2014-01-28			ENSG00000121904	ENSG00000121904			19290	protein-coding gene	gene with protein product		608398				11472063, 11572484	Standard	NM_001281956		Approved	KIAA1884	uc001bxn.1	Q7Z408	OTTHUMG00000011135	ENST00000373381.4:c.9448G>A	1.37:g.34006739C>T	ENSP00000362479:p.Val3150Ile						p.V3150I	NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN			59	9624	-		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)	3122			Sushi 25.		B1AM50|E7EUA6|Q53TY4|Q5VT59|Q8N963|Q96Q03|Q9H4V7|Q9H4V8|Q9H4V9|Q9H4W0|Q9H4W1|Q9H4W2|Q9H4W3|Q9H4W4|Q9HCY5|Q9HCY6|Q9HCY7	Missense_Mutation	SNP	ENST00000373381.4	37	c.9448G>A		.	.	.	.	.	.	.	.	.	.	C	10.32	1.316893	0.23908	2.27E-4	2.33E-4	ENSG00000121904	ENST00000373381	T	0.65732	-0.17	5.45	3.52	0.40303	Complement control module (2);Sushi/SCR/CCP (3);	0.328480	0.28360	N	0.015635	T	0.44664	0.1304	N	0.25485	0.75	0.58432	D	0.999992	B;B	0.10296	0.003;0.003	B;B	0.15484	0.013;0.009	T	0.34551	-0.9824	10	0.38643	T	0.18	.	6.9309	0.24442	0.0:0.7042:0.1433:0.1525	.	3006;3150	Q7Z408;E7EUA6	CSMD2_HUMAN;.	I	3150	ENSP00000362479:V3150I	ENSP00000241312:V3006I	V	-	1	0	CSMD2	33779326	0.525000	0.26290	0.855000	0.33649	0.875000	0.50365	0.980000	0.29513	1.311000	0.45024	0.455000	0.32223	GTC		0.507	CSMD2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_052896		33	60	0	0	0	1	0	33	60					T	34006739	C	T	34006739	3	4	435	1	0	0	0	0	1	0	0	0	3945	536	19	1	1495	1	CSMD2	1	34006739	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	21301	34006739	215243882	238	21163											
CSMD2	114784	broad.mit.edu	37	chr1	34037247	34037247	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	atgagcatcagctgggcctgGaactgatactgtgtctcaaa	11	10	11	9	0	2	2	2	2	1	0	3	3	2	3	1	2	4	2	1	2	3	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:34037247G>A	ENST00000373381.4	-	51	8018	c.7842C>T	c.(7840-7842)ttC>ttT	p.F2614F		NM_001281956.1|NM_052896.3	NP_001268885.1|NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	2616	Sushi 16. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				GCTGGGCCTGGAACTGATACT	0.527																																						ENST00000373381.4																			0				NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246						c.(7840-7842)ttC>ttT		CUB and Sushi multiple domains 2							111	100	103					1																	34037247		2203	4300	6503	SO:0001819	synonymous_variant	114784					integral to membrane|plasma membrane	protein binding	g.chr1:34037247G>A	AY210418	CCDS380.1, CCDS60082.1	1p34.3	2014-01-28			ENSG00000121904	ENSG00000121904			19290	protein-coding gene	gene with protein product		608398				11472063, 11572484	Standard	NM_001281956		Approved	KIAA1884	uc001bxn.1	Q7Z408	OTTHUMG00000011135	ENST00000373381.4:c.7842C>T	1.37:g.34037247G>A							p.F2614F	NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN			51	8018	-		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)	2616			Sushi 16.		B1AM50|E7EUA6|Q53TY4|Q5VT59|Q8N963|Q96Q03|Q9H4V7|Q9H4V8|Q9H4V9|Q9H4W0|Q9H4W1|Q9H4W2|Q9H4W3|Q9H4W4|Q9HCY5|Q9HCY6|Q9HCY7	Silent	SNP	ENST00000373381.4	37	c.7842C>T																																																																																					0.527	CSMD2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_052896		29	35	0	0	0	1	0	29	35					A	34037247	G	A	34037247	2	1	435	1	0	0	0	0	0	0	0	1	3945	1165	41	3		3	CSMD2	1	34037247	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	30508	34037247	215213374	239	21164											
CSMD2	114784	broad.mit.edu	37	chr1	34123626	34123626	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctctgcacttccctgcagcGcgtagccagggtcacactgg	6	9	11	15	2	2	0	1	0	1	0	4	0	3	0	2	2	4	3	2	2	1	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:34123626G>A	ENST00000373380.1	-	6	1206	c.986C>T	c.(985-987)gCg>gTg	p.A329V	CSMD2_ENST00000373388.2_5'UTR|CSMD2_ENST00000373381.4_Missense_Mutation_p.A1456V			Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	1416						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				TCCCTGCAGCGCGTAGCCAGG	0.592																																						ENST00000373381.4																			0				NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246						c.(4366-4368)gCg>gTg		CUB and Sushi multiple domains 2							120	111	114					1																	34123626		2203	4300	6503	SO:0001583	missense	114784					integral to membrane|plasma membrane	protein binding	g.chr1:34123626G>A	AY210418	CCDS380.1, CCDS60082.1	1p34.3	2014-01-28			ENSG00000121904	ENSG00000121904			19290	protein-coding gene	gene with protein product		608398				11472063, 11572484	Standard	NM_001281956		Approved	KIAA1884	uc001bxn.1	Q7Z408	OTTHUMG00000011135	ENST00000373380.1:c.986C>T	1.37:g.34123626G>A	ENSP00000362478:p.Ala329Val					CSMD2_ENST00000373380.1_Missense_Mutation_p.A329V|CSMD2_ENST00000373388.2_5'UTR	p.A1456V	NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN			27	4543	-		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)	1416			CUB 9.		B1AM50|E7EUA6|Q53TY4|Q5VT59|Q8N963|Q96Q03|Q9H4V7|Q9H4V8|Q9H4V9|Q9H4W0|Q9H4W1|Q9H4W2|Q9H4W3|Q9H4W4|Q9HCY5|Q9HCY6|Q9HCY7	Missense_Mutation	SNP	ENST00000373380.1	37	c.4367C>T		.	.	.	.	.	.	.	.	.	.	g	12.50	1.957050	0.34565	.	.	ENSG00000121904	ENST00000373381;ENST00000373380	T;T	0.62639	0.01;0.01	5.78	2.75	0.32379	Complement control module (2);Sushi/SCR/CCP (3);	0.422247	0.26146	N	0.026078	T	0.31040	0.0784	N	0.02296	-0.605	0.18873	N	0.999985	B;B;B	0.12630	0.002;0.006;0.0	B;B;B	0.15484	0.013;0.009;0.002	T	0.15407	-1.0438	10	0.42905	T	0.14	.	5.1197	0.14854	0.2353:0.0:0.6222:0.1425	.	329;1416;1456	Q7Z408-2;Q7Z408;E7EUA6	.;CSMD2_HUMAN;.	V	1456;329	ENSP00000362479:A1456V;ENSP00000362478:A329V	ENSP00000241312:A1416V	A	-	2	0	CSMD2	33896213	0.007000	0.16637	0.003000	0.11579	0.900000	0.52787	1.945000	0.40273	0.720000	0.32209	0.558000	0.71614	GCG		0.592	CSMD2-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000030635.4	NM_052896		13	57	0	0	0	1	0	13	57					A	34123626	G	A	34123626	3	1	435	1	0	0	0	0	1	0	0	0	3945	1087	38	1	6388	1	CSMD2	1	34123626	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	86379	34123626	215126995	240	21165											
CSMD2	114784	broad.mit.edu	37	chr1	34190279	34190279	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tactgggattcctggatccaGacagtggtctgactgcagtg	8	11	13	9	0	1	2	0	1	1	1	3	4	3	4	2	3	2	1	2	3	1	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:34190279G>T	ENST00000373381.4	-	18	2898	c.2722C>A	c.(2722-2724)Ctg>Atg	p.L908M		NM_001281956.1|NM_052896.3	NP_001268885.1|NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	868	Sushi 5. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				CCTGGATCCAGACAGTGGTCT	0.527																																						ENST00000373381.4																			0				NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246						c.(2722-2724)Ctg>Atg		CUB and Sushi multiple domains 2							68	65	66					1																	34190279		2203	4300	6503	SO:0001583	missense	114784					integral to membrane|plasma membrane	protein binding	g.chr1:34190279G>T	AY210418	CCDS380.1, CCDS60082.1	1p34.3	2014-01-28			ENSG00000121904	ENSG00000121904			19290	protein-coding gene	gene with protein product		608398				11472063, 11572484	Standard	NM_001281956		Approved	KIAA1884	uc001bxn.1	Q7Z408	OTTHUMG00000011135	ENST00000373381.4:c.2722C>A	1.37:g.34190279G>T	ENSP00000362479:p.Leu908Met						p.L908M	NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN			18	2898	-		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)	868			Sushi 5.		B1AM50|E7EUA6|Q53TY4|Q5VT59|Q8N963|Q96Q03|Q9H4V7|Q9H4V8|Q9H4V9|Q9H4W0|Q9H4W1|Q9H4W2|Q9H4W3|Q9H4W4|Q9HCY5|Q9HCY6|Q9HCY7	Missense_Mutation	SNP	ENST00000373381.4	37	c.2722C>A		.	.	.	.	.	.	.	.	.	.	G	16.66	3.184605	0.57909	.	.	ENSG00000121904	ENST00000373381	T	0.65178	-0.14	5.74	4.64	0.57946	Complement control module (2);Sushi/SCR/CCP (3);	0.079796	0.51477	D	0.000093	T	0.72153	0.3425	M	0.62154	1.92	0.80722	D	1	D;P	0.67145	0.996;0.919	D;P	0.74674	0.984;0.792	T	0.68164	-0.5481	10	0.30078	T	0.28	.	10.1412	0.42736	0.2008:0.0:0.7992:0.0	.	868;908	Q7Z408;E7EUA6	CSMD2_HUMAN;.	M	908	ENSP00000362479:L908M	ENSP00000241312:L868M	L	-	1	2	CSMD2	33962866	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	3.538000	0.53597	2.707000	0.92482	0.655000	0.94253	CTG		0.527	CSMD2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_052896		20	36	1	0	7.21436e-19	1	7.96902e-19	20	36					T	34190279	G	T	34190279	3	4	435	1	0	0	0	0	1	0	0	0	3945	933	33	5	8069	5	CSMD2	1	34190279	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	66653	34190279	215060342	241	21166											
CSMD2	114784	broad.mit.edu	37	chr1	34209135	34209135	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gccagacacagtggaggtggTtgccatagtcctctgggtag	8	9	15	9	0	1	1	0	0	1	1	2	2	2	2	3	4	1	2	3	4	2	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:34209135T>C	ENST00000373381.4	-	14	2095	c.1919A>G	c.(1918-1920)aAc>aGc	p.N640S		NM_001281956.1|NM_052896.3	NP_001268885.1|NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	600	CUB 4. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				GTGGAGGTGGTTGCCATAGTC	0.567																																						ENST00000373381.4																			0				NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246						c.(1918-1920)aAc>aGc		CUB and Sushi multiple domains 2							76	79	78					1																	34209135		2203	4300	6503	SO:0001583	missense	114784					integral to membrane|plasma membrane	protein binding	g.chr1:34209135T>C	AY210418	CCDS380.1, CCDS60082.1	1p34.3	2014-01-28			ENSG00000121904	ENSG00000121904			19290	protein-coding gene	gene with protein product		608398				11472063, 11572484	Standard	NM_001281956		Approved	KIAA1884	uc001bxn.1	Q7Z408	OTTHUMG00000011135	ENST00000373381.4:c.1919A>G	1.37:g.34209135T>C	ENSP00000362479:p.Asn640Ser						p.N640S	NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN			14	2095	-		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)	600			CUB 4.		B1AM50|E7EUA6|Q53TY4|Q5VT59|Q8N963|Q96Q03|Q9H4V7|Q9H4V8|Q9H4V9|Q9H4W0|Q9H4W1|Q9H4W2|Q9H4W3|Q9H4W4|Q9HCY5|Q9HCY6|Q9HCY7	Missense_Mutation	SNP	ENST00000373381.4	37	c.1919A>G		.	.	.	.	.	.	.	.	.	.	T	16.43	3.121146	0.56613	.	.	ENSG00000121904	ENST00000373381	T	0.35973	1.28	5.58	5.58	0.84498	CUB (5);	0.050854	0.85682	D	0.000000	T	0.29423	0.0733	L	0.46819	1.47	0.80722	D	1	B;B	0.30068	0.267;0.164	B;B	0.34931	0.192;0.192	T	0.05971	-1.0853	10	0.07030	T	0.85	.	9.6048	0.39626	0.0:0.0861:0.0:0.9139	.	600;640	Q7Z408;E7EUA6	CSMD2_HUMAN;.	S	640	ENSP00000362479:N640S	ENSP00000241312:N600S	N	-	2	0	CSMD2	33981722	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.109000	0.57824	2.246000	0.74042	0.533000	0.62120	AAC		0.567	CSMD2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_052896		19	29	0	0	0	1	0	19	29					C	34209135	T	C	34209135	3	2	435	1	0	0	0	0	1	0	0	0	3945	1725	60	4	8888	4	CSMD2	1	34209135	Missense_Mutation	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	18856	34209135	215041486	242	21167											
GJB4	127534	broad.mit.edu	37	chr1	35227553	35227553	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccgggaatgcctacccgataCgtgcccaccatatgtcctct	8	9	8	16	3	1	0	0	0	1	0	2	2	2	1	6	1	4	0	6	1	4	3	rs568452902		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:35227553C>T	ENST00000339480.1	+	2	1068	c.698C>T	c.(697-699)aCg>aTg	p.T233M	RP1-34M23.5_ENST00000542839.1_RNA	NM_153212.2	NP_694944.1	Q9NTQ9	CXB4_HUMAN	gap junction protein, beta 4, 30.3kDa	233					cell communication (GO:0007154)|olfactory behavior (GO:0042048)|sensory perception of smell (GO:0007608)	connexon complex (GO:0005922)|integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|skin(1)	16		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.234)				CTACCCGATACGTGCCCACCA	0.617																																						ENST00000339480.1																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|skin(1)	16						c.(697-699)aCg>aTg		gap junction protein, beta 4, 30.3kDa							53	47	49					1																	35227553		2203	4300	6503	SO:0001583	missense	127534				cell communication	connexon complex|integral to membrane	gap junction channel activity	g.chr1:35227553C>T		CCDS383.1	1p35-p34	2008-05-14	2007-11-06		ENSG00000189433	ENSG00000189433		"Ion channels / Gap junction proteins (connexins)"	4286	protein-coding gene	gene with protein product	"connexin 30.3"	605425	"gap junction protein, beta 4 (connexin 30.3)", "gap junction protein, beta 4"				Standard	NM_153212		Approved	CX30.3	uc001bxv.1	Q9NTQ9	OTTHUMG00000004052	ENST00000339480.1:c.698C>T	1.37:g.35227553C>T	ENSP00000345868:p.Thr233Met					RP1-34M23.5_ENST00000542839.1_RNA	p.T233M	NM_153212.2	NP_694944.1	Q9NTQ9	CXB4_HUMAN			2	1068	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.234)	233					B3KQ82	Missense_Mutation	SNP	ENST00000339480.1	37	c.698C>T	CCDS383.1	.	.	.	.	.	.	.	.	.	.	C	12.13	1.846138	0.32606	.	.	ENSG00000189433	ENST00000339480	D	0.97791	-4.54	5.61	2.59	0.31030	.	4.043790	0.00848	N	0.001811	D	0.93109	0.7806	N	0.08118	0	0.09310	N	1	B	0.22414	0.069	B	0.12156	0.007	D	0.87324	0.2320	10	0.48119	T	0.1	.	6.0984	0.20033	0.0:0.6315:0.1384:0.2302	.	233	Q9NTQ9	CXB4_HUMAN	M	233	ENSP00000345868:T233M	ENSP00000345868:T233M	T	+	2	0	GJB4	35000140	0.001000	0.12720	0.006000	0.13384	0.025000	0.11179	1.261000	0.32980	0.754000	0.32968	0.556000	0.70494	ACG		0.617	GJB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011560.1	NM_153212		15	24	0	0	0	1	0	15	24					T	35227553	C	T	35227553	3	4	435	1	0	0	0	0	1	0	0	0	6410	536	19	1	700	1	GJB4	1	35227553	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	1018418	35227553	214023068	243	21168											
GJA4	2701	broad.mit.edu	37	chr1	35260208	35260208	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gggcgctggcggccgtagagCgtcagatggccaagatctcg	7	6	17	11	5	2	3	1	0	1	3	3	3	2	3	2	4	1	2	2	4	2	1	rs61777220	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:35260208C>T	ENST00000342280.4	+	2	482	c.394C>T	c.(394-396)Cgt>Tgt	p.R132C		NM_002060.2	NP_002051.2	P35212	CXA4_HUMAN	gap junction protein, alpha 4, 37kDa	132					blood vessel development (GO:0001568)|calcium ion transport (GO:0006816)|cell-cell junction assembly (GO:0007043)|cell-cell signaling (GO:0007267)|endothelium development (GO:0003158)|response to pain (GO:0048265)|transport (GO:0006810)	connexon complex (GO:0005922)|gap junction (GO:0005921)|integral component of plasma membrane (GO:0005887)				NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(3)|prostate(4)|stomach(1)	14		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.234)				GGCCGTAGAGCGTCAGATGGC	0.667													C|||	21	0.00419329	0	0.0043	5008	,	,		15593	0		0.005	False		,,,				2504	0.0133					ENST00000342280.4																			0				NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(3)|prostate(4)|stomach(1)	14						c.(394-396)Cgt>Tgt		gap junction protein, alpha 4, 37kDa		C	CYS/ARG	6,4400	8.1+/-20.4	0,6,2197	25	28	27		394	4.1	0.6	1	dbSNP_129	27	83,8517	46.7+/-105.8	1,81,4218	yes	missense	GJA4	NM_002060.2	180	1,87,6415	TT,TC,CC		0.9651,0.1362,0.6843	probably-damaging	132/334	35260208	89,12917	2203	4300	6503	SO:0001583	missense	2701				cell-cell junction assembly	integral to plasma membrane		g.chr1:35260208C>T	M96789	CCDS30669.1	1p35.1	2008-02-05	2007-01-16		ENSG00000187513	ENSG00000187513		"Ion channels / Gap junction proteins (connexins)"	4278	protein-coding gene	gene with protein product	"connexin 37"	121012	"gap junction protein, alpha 4, 37kD (connexin 37)", "gap junction protein, alpha 4, 37kDa (connexin 37)"			9843209, 7680674	Standard	XM_005270750		Approved	CX37	uc001bya.3	P35212	OTTHUMG00000004050	ENST00000342280.4:c.394C>T	1.37:g.35260208C>T	ENSP00000343676:p.Arg132Cys						p.R132C	NM_002060.2	NP_002051.2	P35212	CXA4_HUMAN			2	482	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.234)	132					A8K698|D3DPR4|Q9P106|Q9UBL1|Q9UNA9|Q9UNB0|Q9UNB1|Q9Y5N7	Missense_Mutation	SNP	ENST00000342280.4	37	c.394C>T	CCDS30669.1	5	0.0022893772893772895	0	0.0	1	0.0027624309392265192	0	0.0	4	0.005277044854881266	C	13.33	2.204491	0.38905	0.001362	0.009651	ENSG00000187513	ENST00000342280;ENST00000450137;ENST00000543143	D;D	0.97772	-4.47;-4.53	5.11	4.13	0.48395	.	0.687923	0.12258	N	0.484983	D	0.92567	0.7639	L	0.29908	0.895	0.35144	D	0.769098	P;P	0.51537	0.918;0.946	B;B	0.40565	0.276;0.333	D	0.93624	0.6950	10	0.66056	D	0.02	.	11.0588	0.47936	0.377:0.623:0.0:0.0	rs61777220	132;132	Q5JW71;P35212	.;CXA4_HUMAN	C	132	ENSP00000343676:R132C;ENSP00000409186:R132C	ENSP00000343676:R132C	R	+	1	0	GJA4	35032795	0.998000	0.40836	0.642000	0.29436	0.307000	0.27823	1.160000	0.31761	2.360000	0.80028	0.563000	0.77884	CGT		0.667	GJA4-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011556.1	NM_002060		10	15	0	0	0	1	0	10	15					T	35260208	C	T	35260208	3	4	435	1	0	0	0	0	1	0	0	0	6403	768	27	1	396	1	GJA4	1	35260208	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	32655	35260208	213990413	244	21169											
DLGAP3	58512	broad.mit.edu	37	chr1	35370527	35370527	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gggcagtgcccgtccctggcGctggcccgggccctgcccct	1	6	15	19	3	0	0	0	0	0	0	1	0	1	0	6	4	2	2	6	4	0	0	rs567556607		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:35370527G>A	ENST00000373347.1	-	3	726	c.458C>T	c.(457-459)gCg>gTg	p.A153V	DLGAP3_ENST00000495979.1_5'Flank|DLGAP3_ENST00000235180.4_Missense_Mutation_p.A153V			O95886	DLGP3_HUMAN	discs, large (Drosophila) homolog-associated protein 3	153					cell-cell signaling (GO:0007267)	cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)	beta-amyloid binding (GO:0001540)			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|prostate(3)|skin(3)|urinary_tract(1)	46		Myeloproliferative disorder(586;0.0393)				CGTCCCTGGCGCTGGCCCGGG	0.612													g|||	1	0.000199681	0	0.0014	5008	,	,		10671	0		0	False		,,,				2504	0					ENST00000373347.1																			0				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|prostate(3)|skin(3)|urinary_tract(1)	46						c.(457-459)gCg>gTg		discs, large (Drosophila) homolog-associated protein 3							17	18	18					1																	35370527		2197	4287	6484	SO:0001583	missense	58512				cell-cell signaling	cell junction|postsynaptic density|postsynaptic membrane		g.chr1:35370527G>A	AF131778	CCDS30670.1	1p35.3-p34.1	2008-02-05			ENSG00000116544	ENSG00000116544			30368	protein-coding gene	gene with protein product		611413				8619474, 9110174	Standard	NM_001080418		Approved	SAPAP3, DAP3	uc001byc.3	O95886	OTTHUMG00000004049	ENST00000373347.1:c.458C>T	1.37:g.35370527G>A	ENSP00000362444:p.Ala153Val					DLGAP3_ENST00000235180.4_Missense_Mutation_p.A153V	p.A153V			O95886	DLGP3_HUMAN			3	726	-		Myeloproliferative disorder(586;0.0393)	153					Q5TDD5|Q9H3X7	Missense_Mutation	SNP	ENST00000373347.1	37	c.458C>T	CCDS30670.1	.	.	.	.	.	.	.	.	.	.	G	10.10	1.257099	0.22965	.	.	ENSG00000116544	ENST00000373347;ENST00000235180	T;T	0.25414	1.8;1.8	4.13	0.865	0.19074	.	0.429192	0.17306	N	0.179064	T	0.10723	0.0262	N	0.08118	0	0.23478	N	0.997595	B	0.25105	0.118	B	0.16289	0.015	T	0.22977	-1.0201	10	0.35671	T	0.21	-5.3706	7.3292	0.26573	0.0:0.3886:0.505:0.1065	.	153	O95886	DLGP3_HUMAN	V	153	ENSP00000362444:A153V;ENSP00000235180:A153V	ENSP00000235180:A153V	A	-	2	0	DLGAP3	35143114	.	.	0.444000	0.26895	0.477000	0.33069	.	.	0.329000	0.23460	-0.537000	0.04273	GCG		0.612	DLGAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011554.1	NM_021234		7	9	0	0	0	1	0	7	9					A	35370527	G	A	35370527	3	1	435	1	0	0	0	0	1	0	0	0	4561	1087	38	1	2521	1	DLGAP3	1	35370527	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	110319	35370527	213880094	245	21170											
ZMYM1	79830	broad.mit.edu	37	chr1	35563119	35563119	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catcactgaatacatttcatCtgccagttcaccagttcctt	10	14	4	13	0	4	1	3	1	1	0	5	1	5	1	3	0	2	2	3	0	2	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:35563119C>A	ENST00000373330.1	+	5	545	c.371C>A	c.(370-372)tCt>tAt	p.S124Y	ZMYM1_ENST00000373329.1_3'UTR|ZMYM1_ENST00000359858.4_Missense_Mutation_p.S124Y			Q5SVZ6	ZMYM1_HUMAN	zinc finger, MYM-type 1	124						nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(8)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				TACATTTCATCTGCCAGTTCA	0.388																																						ENST00000373330.1																			0				NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(8)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	31						c.(370-372)tCt>tAt		zinc finger, MYM-type 1							118	120	119					1																	35563119		2077	4241	6318	SO:0001583	missense	79830					nucleus	nucleic acid binding|protein dimerization activity|zinc ion binding	g.chr1:35563119C>A	AK096206	CCDS41302.1	1p34.3	2008-05-02	2005-09-12		ENSG00000197056	ENSG00000197056		"Zinc fingers, MYM type"	26253	protein-coding gene	gene with protein product			"zinc finger, MYM domain containing 1"			12477932	Standard	XM_005271216		Approved	FLJ23151, MYM	uc001bym.3	Q5SVZ6	OTTHUMG00000004374	ENST00000373330.1:c.371C>A	1.37:g.35563119C>A	ENSP00000362427:p.Ser124Tyr					ZMYM1_ENST00000359858.4_Missense_Mutation_p.S124Y|ZMYM1_ENST00000373329.1_3'UTR	p.S124Y			Q5SVZ6	ZMYM1_HUMAN			5	545	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)	124					D3DPR7|Q7Z3Q4	Missense_Mutation	SNP	ENST00000373330.1	37	c.371C>A	CCDS41302.1	.	.	.	.	.	.	.	.	.	.	C	19.70	3.875609	0.72180	.	.	ENSG00000197056	ENST00000417119;ENST00000359858;ENST00000373329;ENST00000373330	T;T;T;T	0.18810	2.19;2.5;2.23;2.5	5.2	5.2	0.72013	TRASH (1);	0.143577	0.32918	N	0.005491	T	0.38188	0.1031	L	0.40543	1.245	0.30700	N	0.750429	B;D;D	0.71674	0.415;0.998;0.982	B;D;P	0.64042	0.2;0.921;0.776	T	0.15150	-1.0447	10	0.87932	D	0	-9.1608	19.3014	0.94145	0.0:1.0:0.0:0.0	.	124;124;124	B4DSJ9;Q5SVZ6;Q5SVZ7	.;ZMYM1_HUMAN;.	Y	124;124;49;124	ENSP00000394233:S124Y;ENSP00000352920:S124Y;ENSP00000362426:S49Y;ENSP00000362427:S124Y	ENSP00000352920:S124Y	S	+	2	0	ZMYM1	35335706	0.985000	0.35326	0.595000	0.28798	0.901000	0.52897	5.525000	0.67110	2.854000	0.98071	0.655000	0.94253	TCT		0.388	ZMYM1-001	NOVEL	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012705.1	NM_024772		44	64	1	0	1.57945e-13	1	1.71745e-13	44	64					A	35563119	C	A	35563119	3	1	435	1	0	0	0	0	1	0	0	0	17696	913	32	5	381	5	ZMYM1	1	35563119	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	192592	35563119	213687502	246	21171											
ZMYM1	79830	broad.mit.edu	37	chr1	35569964	35569964	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tacctcttgcaaaactttttGcagcctatcttgtctttcat	8	18	4	11	0	4	0	1	0	3	0	4	0	4	0	2	0	5	2	2	0	4	7			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:35569964G>A	ENST00000373330.1	+	6	662	c.488G>A	c.(487-489)tGc>tAc	p.C163Y	ZMYM1_ENST00000373329.1_3'UTR|ZMYM1_ENST00000359858.4_Missense_Mutation_p.C163Y			Q5SVZ6	ZMYM1_HUMAN	zinc finger, MYM-type 1	163						nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(8)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				AAAACTTTTTGCAGCCTATCT	0.348																																						ENST00000373330.1																			0				NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(8)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	31						c.(487-489)tGc>tAc		zinc finger, MYM-type 1							51	50	50					1																	35569964		1832	4086	5918	SO:0001583	missense	79830					nucleus	nucleic acid binding|protein dimerization activity|zinc ion binding	g.chr1:35569964G>A	AK096206	CCDS41302.1	1p34.3	2008-05-02	2005-09-12		ENSG00000197056	ENSG00000197056		"Zinc fingers, MYM type"	26253	protein-coding gene	gene with protein product			"zinc finger, MYM domain containing 1"			12477932	Standard	XM_005271216		Approved	FLJ23151, MYM	uc001bym.3	Q5SVZ6	OTTHUMG00000004374	ENST00000373330.1:c.488G>A	1.37:g.35569964G>A	ENSP00000362427:p.Cys163Tyr					ZMYM1_ENST00000359858.4_Missense_Mutation_p.C163Y|ZMYM1_ENST00000373329.1_3'UTR	p.C163Y			Q5SVZ6	ZMYM1_HUMAN			6	662	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)	163					D3DPR7|Q7Z3Q4	Missense_Mutation	SNP	ENST00000373330.1	37	c.488G>A	CCDS41302.1	.	.	.	.	.	.	.	.	.	.	G	16.88	3.244720	0.59103	.	.	ENSG00000197056	ENST00000417119;ENST00000359858;ENST00000373329;ENST00000373330	T;T;T;T	0.50548	0.74;1.01;0.92;1.01	4.71	4.71	0.59529	TRASH (1);Zinc finger, MYM-type (1);	0.000000	0.64402	D	0.000020	T	0.68897	0.3051	M	0.70595	2.14	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.72491	-0.4277	10	0.72032	D	0.01	-7.5978	18.2061	0.89854	0.0:0.0:1.0:0.0	.	163;163	B4DSJ9;Q5SVZ6	.;ZMYM1_HUMAN	Y	163;163;88;163	ENSP00000394233:C163Y;ENSP00000352920:C163Y;ENSP00000362426:C88Y;ENSP00000362427:C163Y	ENSP00000352920:C163Y	C	+	2	0	ZMYM1	35342551	1.000000	0.71417	1.000000	0.80357	0.568000	0.35870	7.660000	0.83776	2.619000	0.88677	0.655000	0.94253	TGC		0.348	ZMYM1-001	NOVEL	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012705.1	NM_024772		38	28	0	0	0	1	0	38	28					A	35569964	G	A	35569964	3	1	435	1	0	0	0	0	1	0	0	0	17696	1319	46	3	502	3	ZMYM1	1	35569964	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	6845	35569964	213680657	247	21172											
ZMYM1	79830	broad.mit.edu	37	chr1	35580705	35580705	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	actcattttctaccctgcctCgtcttaagacatatttatgt	9	17	4	11	1	3	1	1	0	2	1	4	1	3	1	2	0	2	0	2	0	4	7			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:35580705C>T	ENST00000373330.1	+	11	3448	c.3274C>T	c.(3274-3276)Cgt>Tgt	p.R1092C	ZMYM1_ENST00000373329.1_3'UTR|ZMYM1_ENST00000359858.4_Missense_Mutation_p.R1092C			Q5SVZ6	ZMYM1_HUMAN	zinc finger, MYM-type 1	1092						nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(8)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				TACCCTGCCTCGTCTTAAGAC	0.403																																						ENST00000373330.1																			0				NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(8)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	31						c.(3274-3276)Cgt>Tgt		zinc finger, MYM-type 1							117	108	111					1																	35580705		1855	4115	5970	SO:0001583	missense	79830					nucleus	nucleic acid binding|protein dimerization activity|zinc ion binding	g.chr1:35580705C>T	AK096206	CCDS41302.1	1p34.3	2008-05-02	2005-09-12		ENSG00000197056	ENSG00000197056		"Zinc fingers, MYM type"	26253	protein-coding gene	gene with protein product			"zinc finger, MYM domain containing 1"			12477932	Standard	XM_005271216		Approved	FLJ23151, MYM	uc001bym.3	Q5SVZ6	OTTHUMG00000004374	ENST00000373330.1:c.3274C>T	1.37:g.35580705C>T	ENSP00000362427:p.Arg1092Cys					ZMYM1_ENST00000359858.4_Missense_Mutation_p.R1092C|ZMYM1_ENST00000373329.1_3'UTR	p.R1092C			Q5SVZ6	ZMYM1_HUMAN			11	3448	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)	1092					D3DPR7|Q7Z3Q4	Missense_Mutation	SNP	ENST00000373330.1	37	c.3274C>T	CCDS41302.1	.	.	.	.	.	.	.	.	.	.	C	12.62	1.993120	0.35131	.	.	ENSG00000197056	ENST00000359858;ENST00000373329;ENST00000373330	T;T;T	0.24723	1.84;1.84;1.84	4.5	4.5	0.54988	HAT dimerisation (1);Ribonuclease H-like (1);	0.282625	0.25922	N	0.027426	T	0.47746	0.1462	M	0.79805	2.47	0.38248	D	0.94152	D;D	0.69078	0.997;0.997	P;P	0.58077	0.765;0.832	T	0.54510	-0.8283	9	.	.	.	-1.6608	15.5099	0.75772	0.0:1.0:0.0:0.0	.	1073;1092	B4DSJ9;Q5SVZ6	.;ZMYM1_HUMAN	C	1092;1017;1092	ENSP00000352920:R1092C;ENSP00000362426:R1017C;ENSP00000362427:R1092C	.	R	+	1	0	ZMYM1	35353292	0.993000	0.37304	0.900000	0.35374	0.195000	0.23768	2.750000	0.47500	2.791000	0.96007	0.591000	0.81541	CGT		0.403	ZMYM1-001	NOVEL	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012705.1	NM_024772		39	50	0	0	0	1	0	39	50					T	35580705	C	T	35580705	3	4	435	1	0	0	0	0	1	0	0	0	17696	884	31	2	3308	2	ZMYM1	1	35580705	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	10741	35580705	213669916	248	21173											
ZMYM4	9202	broad.mit.edu	37	chr1	35851753	35851753	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	catgtcagatggaagtatacGcaacttctgcagctacagct	12	10	9	10	1	2	1	1	0	1	1	2	2	2	2	0	1	6	5	0	1	5	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:35851753G>A	ENST00000314607.6	+	11	1879	c.1799G>A	c.(1798-1800)cGc>cAc	p.R600H	ZMYM4_ENST00000373297.2_Intron	NM_005095.2	NP_005086.2	Q5VZL5	ZMYM4_HUMAN	zinc finger, MYM-type 4	600					cytoskeleton organization (GO:0007010)|multicellular organismal development (GO:0007275)|regulation of cell morphogenesis (GO:0022604)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(16)|ovary(2)|prostate(3)|skin(2)	54		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				GGAAGTATACGCAACTTCTGC	0.428																																						ENST00000314607.6																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(16)|ovary(2)|prostate(3)|skin(2)	54						c.(1798-1800)cGc>cAc		zinc finger, MYM-type 4							168	152	157					1																	35851753		2203	4300	6503	SO:0001583	missense	9202				multicellular organismal development		DNA binding|zinc ion binding	g.chr1:35851753G>A	AB007885	CCDS389.1	1p34-p32	2013-01-08	2005-12-19	2005-12-19	ENSG00000146463	ENSG00000146463		"Zinc fingers, MYM type"	13055	protein-coding gene	gene with protein product		613568	"zinc finger protein 262"	ZNF262		10449923	Standard	NM_005095		Approved	KIAA0425, ZNF198L3, MYM	uc001byt.3	Q5VZL5	OTTHUMG00000004241	ENST00000314607.6:c.1799G>A	1.37:g.35851753G>A	ENSP00000322915:p.Arg600His					ZMYM4_ENST00000373297.2_Intron	p.R600H	NM_005095.2	NP_005086.2	Q5VZL5	ZMYM4_HUMAN			11	1879	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)	600					A0JP19|A0JP20|O43308|Q5T5E1|Q5T5E2|Q7L3Q4	Missense_Mutation	SNP	ENST00000314607.6	37	c.1799G>A	CCDS389.1	.	.	.	.	.	.	.	.	.	.	G	18.15	3.559408	0.65538	.	.	ENSG00000146463	ENST00000314607	T	0.31247	1.5	5.78	5.78	0.91487	TRASH (1);	0.113873	0.64402	D	0.000014	T	0.25791	0.0628	L	0.37850	1.14	0.80722	D	1	P	0.47677	0.899	B	0.37833	0.259	T	0.02751	-1.1115	10	0.18276	T	0.48	-6.6897	20.0029	0.97425	0.0:0.0:1.0:0.0	.	600	Q5VZL5	ZMYM4_HUMAN	H	600	ENSP00000322915:R600H	ENSP00000322915:R600H	R	+	2	0	ZMYM4	35624340	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	6.402000	0.73260	2.735000	0.93741	0.436000	0.28706	CGC		0.428	ZMYM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012207.3	NM_005095		28	41	0	0	0	1	0	28	41					A	35851753	G	A	35851753	3	1	435	1	0	0	0	0	1	0	0	0	17699	1087	38	1	1841	1	ZMYM4	1	35851753	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	271048	35851753	213398868	249	21174											
KIAA0319L	79932	broad.mit.edu	37	chr1	35900535	35900535	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggctcctggccttcagagggGtctgcccgttgggtacagag	5	9	16	11	1	2	2	1	0	1	2	3	2	3	2	3	5	2	3	3	5	1	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:35900535G>A	ENST00000325722.3	-	21	3344	c.3110C>T	c.(3109-3111)aCc>aTc	p.T1037I	KIAA0319L_ENST00000373266.4_Missense_Mutation_p.T474I	NM_024874.4	NP_079150.3	Q8IZA0	K319L_HUMAN	KIAA0319-like	1037						cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(12)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	34		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				CTTCAGAGGGGTCTGCCCGTT	0.617																																						ENST00000325722.3																			0				breast(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(12)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	34						c.(3109-3111)aCc>aTc		KIAA0319-like							61	58	59					1																	35900535		2203	4300	6503	SO:0001583	missense	79932					cytoplasmic vesicle part|integral to membrane	protein binding	g.chr1:35900535G>A	AY163234	CCDS390.1	1p34.3	2008-10-24			ENSG00000142687	ENSG00000142687			30071	protein-coding gene	gene with protein product		613535				11347906	Standard	NM_024874		Approved	KIAA1837	uc001byx.3	Q8IZA0	OTTHUMG00000004370	ENST00000325722.3:c.3110C>T	1.37:g.35900535G>A	ENSP00000318406:p.Thr1037Ile					KIAA0319L_ENST00000373266.4_Missense_Mutation_p.T474I	p.T1037I	NM_024874.4	NP_079150.3	Q8IZA0	K319L_HUMAN			21	3344	-		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)	1037					B1AN13|D3DPR8|O95010|Q6PJJ7|Q7L1C9|Q8N2B3|Q8NDA0|Q8WY39|Q8WYZ5|Q96IC3|Q96JJ0|Q9BUW6|Q9H7V0	Missense_Mutation	SNP	ENST00000325722.3	37	c.3110C>T	CCDS390.1	.	.	.	.	.	.	.	.	.	.	G	14.81	2.645818	0.47258	.	.	ENSG00000142687	ENST00000325722;ENST00000373266	T;T	0.10005	3.24;2.92	4.62	4.62	0.57501	.	0.296050	0.36134	N	0.002765	T	0.06188	0.0160	N	0.14661	0.345	0.80722	D	1	B;B	0.24823	0.112;0.001	B;B	0.18871	0.023;0.006	T	0.39014	-0.9634	10	0.26408	T	0.33	-0.9249	10.0349	0.42122	0.1021:0.0:0.8978:0.0	.	1037;479	Q8IZA0;Q8IZA0-3	K319L_HUMAN;.	I	1037;474	ENSP00000318406:T1037I;ENSP00000362363:T474I	ENSP00000318406:T1037I	T	-	2	0	KIAA0319L	35673122	0.996000	0.38824	0.997000	0.53966	0.932000	0.56968	2.589000	0.46145	2.401000	0.81631	0.563000	0.77884	ACC		0.617	KIAA0319L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012684.2	NM_024874		8	23	0	0	0	1	0	8	23					A	35900535	G	A	35900535	3	1	435	1	0	0	0	0	1	0	0	0	8169	1261	44	3	43	3	KIAA0319L	1	35900535	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	48782	35900535	213350086	250	21175											
NCDN	23154	broad.mit.edu	37	chr1	36029409	36029409	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctaatgaacaccctcatgaCgtcgctaccagcactagtgc	11	9	7	14	2	2	2	1	2	1	0	3	2	2	2	2	0	4	2	2	0	4	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:36029409C>T	ENST00000373243.2	+	6	2035	c.1652C>T	c.(1651-1653)aCg>aTg	p.T551M	NCDN_ENST00000356090.4_Missense_Mutation_p.T551M|NCDN_ENST00000373253.3_Missense_Mutation_p.T534M	NM_014284.2	NP_055099.1	Q9UBB6	NCDN_HUMAN	neurochondrin	551					bone resorption (GO:0045453)|neuron projection development (GO:0031175)|regulation of neuronal synaptic plasticity (GO:0048168)	cytosol (GO:0005829)|dendrite (GO:0030425)|membrane (GO:0016020)|neuronal cell body (GO:0043025)				breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|pancreas(1)|skin(2)	16		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				ACCCTCATGACGTCGCTACCA	0.572																																						ENST00000373243.2																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|pancreas(1)|skin(2)	16						c.(1651-1653)aCg>aTg		neurochondrin							128	121	124					1																	36029409		2203	4300	6503	SO:0001583	missense	23154				neuron projection development	cytosol|dendrite|neuronal cell body		g.chr1:36029409C>T	AB011179	CCDS392.1, CCDS30672.1	1p34.3	2008-02-05			ENSG00000020129	ENSG00000020129			17597	protein-coding gene	gene with protein product		608458				15007648	Standard	NM_014284		Approved	NCDN-1, NCDN-2	uc001bza.3	Q9UBB6	OTTHUMG00000059204	ENST00000373243.2:c.1652C>T	1.37:g.36029409C>T	ENSP00000362340:p.Thr551Met					NCDN_ENST00000373253.3_Missense_Mutation_p.T534M|NCDN_ENST00000356090.4_Missense_Mutation_p.T551M	p.T551M	NM_014284.2	NP_055099.1	Q9UBB6	NCDN_HUMAN			6	2035	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)	551					D3DPR9|Q9UBY2|Q9Y4A6|Q9Y4D9	Missense_Mutation	SNP	ENST00000373243.2	37	c.1652C>T	CCDS392.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.30|15.30	2.791218|2.791218	0.50102|0.50102	.|.	.|.	ENSG00000020129|ENSG00000020129	ENST00000423723|ENST00000373253;ENST00000356090;ENST00000373243	.|.	.|.	.|.	4.71|4.71	4.71|4.71	0.59529|0.59529	.|.	.|0.250456	.|0.38837	.|N	.|0.001560	T|T	0.39545|0.39545	0.1082|0.1082	L|L	0.34521|0.34521	1.04|1.04	0.31314|0.31314	N|N	0.686797|0.686797	.|D	.|0.63880	.|0.993	.|P	.|0.50082	.|0.63	T|T	0.47774|0.47774	-0.9091|-0.9091	5|9	.|0.51188	.|T	.|0.08	.|.	10.7507|10.7507	0.46207|0.46207	0.3082:0.6918:0.0:0.0|0.3082:0.6918:0.0:0.0	.|.	.|551	.|Q9UBB6	.|NCDN_HUMAN	C|M	145|534;551;551	.|.	.|ENSP00000348394:T551M	R|T	+|+	1|2	0|0	NCDN|NCDN	35801996|35801996	0.986000|0.986000	0.35501|0.35501	0.987000|0.987000	0.45799|0.45799	0.588000|0.588000	0.36517|0.36517	2.921000|2.921000	0.48852|0.48852	2.157000|2.157000	0.67596|0.67596	0.462000|0.462000	0.41574|0.41574	CGT|ACG		0.572	NCDN-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131298.1	NM_014284		12	72	0	0	0	1	0	12	72					T	36029409	C	T	36029409	3	4	435	1	0	0	0	0	1	0	0	0	10214	536	19	1	1674	1	NCDN	1	36029409	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	128874	36029409	213221212	251	21176											
PSMB2	5690	broad.mit.edu	37	chr1	36101917	36101917	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	taagtcttacccaccatttcGcatcttataaagttgcacgt	11	14	5	11	2	2	0	0	0	2	0	3	0	2	0	2	0	2	3	2	0	5	6			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:36101917G>A	ENST00000373237.3	-	2	619	c.208C>T	c.(208-210)Cga>Tga	p.R70*		NM_002794.4	NP_002785.1	P49721	PSB2_HUMAN	proteasome (prosome, macropain) subunit, beta type, 2	70					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|response to organic cyclic compound (GO:0014070)|response to organonitrogen compound (GO:0010243)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome complex (GO:0000502)|proteasome core complex (GO:0005839)	threonine-type endopeptidase activity (GO:0004298)			endometrium(1)|large_intestine(2)	3		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)			Bortezomib(DB00188)|Carfilzomib(DB08889)	CCACCATTTCGCATCTTATAA	0.388																																						ENST00000373237.3																			0				endometrium(1)|large_intestine(2)	3						c.(208-210)Cga>Tga		proteasome (prosome, macropain) subunit, beta type, 2	Bortezomib(DB00188)						128	119	122					1																	36101917		2202	4300	6502	SO:0001587	stop_gained	5690				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome core complex	threonine-type endopeptidase activity	g.chr1:36101917G>A	D26599	CCDS394.1, CCDS72755.1	1p34.2	2008-02-05			ENSG00000126067	ENSG00000126067		"Proteasome (prosome, macropain) subunits"	9539	protein-coding gene	gene with protein product		602175				7918633	Standard	NM_002794		Approved	HC7-I	uc001bzf.2	P49721	OTTHUMG00000004169	ENST00000373237.3:c.208C>T	1.37:g.36101917G>A	ENSP00000362334:p.Arg70*						p.R70*	NM_002794.4	NP_002785.1	P49721	PSB2_HUMAN			2	619	-		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)	70					D3DPS0|P31145|Q9BWZ9	Nonsense_Mutation	SNP	ENST00000373237.3	37	c.208C>T	CCDS394.1	.	.	.	.	.	.	.	.	.	.	G	38	7.128449	0.98081	.	.	ENSG00000126067	ENST00000373237	.	.	.	5.06	0.812	0.18744	.	0.049719	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.8466	0.78899	0.0:0.0:0.3077:0.6923	.	.	.	.	X	70	.	ENSP00000362334:R70X	R	-	1	2	PSMB2	35874504	1.000000	0.71417	0.998000	0.56505	0.979000	0.70002	2.067000	0.41461	-0.011000	0.14247	-0.309000	0.09137	CGA		0.388	PSMB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012016.1	NM_002794		21	37	0	0	0	1	0	21	37					A	36101917	G	A	36101917	4	1	435	1	0	0	0	0	0	1	0	0	12677	1095	38	1	417	1	PSMB2	1	36101917	Nonsense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	72508	36101917	213148704	252	21177											
EIF2C1	26523	broad.mit.edu	37	chr1	36358239	36358239	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtgtatgatggaaagaagaaCatttacactgtcacagcact	15	10	9	7	0	1	3	1	1	0	2	1	4	1	4	0	1	3	2	0	1	5	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:36358239C>T	ENST00000373204.4	+	3	504	c.291C>T	c.(289-291)aaC>aaT	p.N97N	AGO1_ENST00000373206.1_Silent_p.N22N	NM_012199.2	NP_036331.1	Q9UL18	AGO1_HUMAN	argonaute RISC catalytic component 1	97					epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|nuclear-transcribed mRNA catabolic process (GO:0000956)|phosphatidylinositol-mediated signaling (GO:0048015)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|micro-ribonucleoprotein complex (GO:0035068)|polysome (GO:0005844)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)										GAAAGAAGAACATTTACACTG	0.517																																						ENST00000373204.4																			0											c.(289-291)aaC>aaT		argonaute RISC catalytic component 1							132	112	119					1																	36358239		2203	4300	6503	SO:0001819	synonymous_variant	26523							g.chr1:36358239C>T	AF093097	CCDS398.1	1p34.3	2013-02-15	2013-02-15	2013-02-15	ENSG00000092847	ENSG00000092847		"Argonaute/PIWI family"	3262	protein-coding gene	gene with protein product	"argonaute 1"	606228	"eukaryotic translation initiation factor 2C, 1"	EIF2C1		10534406, 12906857	Standard	NM_012199		Approved	hAGO1	uc001bzl.3	Q9UL18	OTTHUMG00000007381	ENST00000373204.4:c.291C>T	1.37:g.36358239C>T						AGO1_ENST00000373206.1_Silent_p.N22N	p.N97N	NM_012199.2	NP_036331.1					3	504	+								Q5TA57|Q6P4S0	Silent	SNP	ENST00000373204.4	37	c.291C>T	CCDS398.1																																																																																				0.517	AGO1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019337.3			12	24	0	0	0	1	0	12	24					T	36358239	C	T	36358239	2	4	435	1	0	0	0	0	0	0	0	1	5005	477	17	3		3	EIF2C1	1	36358239	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	256322	36358239	212892382	253	21178											
EIF2C1	26523	broad.mit.edu	37	chr1	36367818	36367818	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tccccagaaccgggccattgCcacacccaatcagggtgtct	9	7	9	16	1	2	1	1	0	1	1	3	1	3	1	6	2	2	0	6	2	2	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:36367818C>T	ENST00000373204.4	+	11	1490	c.1277C>T	c.(1276-1278)gCc>gTc	p.A426V	AGO1_ENST00000373206.1_Missense_Mutation_p.A351V	NM_012199.2	NP_036331.1	Q9UL18	AGO1_HUMAN	argonaute RISC catalytic component 1	426					epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|nuclear-transcribed mRNA catabolic process (GO:0000956)|phosphatidylinositol-mediated signaling (GO:0048015)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|micro-ribonucleoprotein complex (GO:0035068)|polysome (GO:0005844)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)										CGGGCCATTGCCACACCCAAT	0.572																																						ENST00000373204.4																			0											c.(1276-1278)gCc>gTc		argonaute RISC catalytic component 1							104	117	113					1																	36367818		2203	4300	6503	SO:0001583	missense	26523							g.chr1:36367818C>T	AF093097	CCDS398.1	1p34.3	2013-02-15	2013-02-15	2013-02-15	ENSG00000092847	ENSG00000092847		"Argonaute/PIWI family"	3262	protein-coding gene	gene with protein product	"argonaute 1"	606228	"eukaryotic translation initiation factor 2C, 1"	EIF2C1		10534406, 12906857	Standard	NM_012199		Approved	hAGO1	uc001bzl.3	Q9UL18	OTTHUMG00000007381	ENST00000373204.4:c.1277C>T	1.37:g.36367818C>T	ENSP00000362300:p.Ala426Val					AGO1_ENST00000373206.1_Missense_Mutation_p.A351V	p.A426V	NM_012199.2	NP_036331.1					11	1490	+								Q5TA57|Q6P4S0	Missense_Mutation	SNP	ENST00000373204.4	37	c.1277C>T	CCDS398.1	.	.	.	.	.	.	.	.	.	.	C	19.98	3.927662	0.73327	.	.	ENSG00000092847	ENST00000373206;ENST00000373204	T;T	0.06687	3.27;3.27	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	T	0.12902	0.0313	M	0.62209	1.925	0.80722	D	1	B	0.02656	0.0	B	0.13407	0.009	T	0.13953	-1.0490	10	0.17832	T	0.49	-25.121	19.7706	0.96363	0.0:1.0:0.0:0.0	.	426	Q9UL18	AGO1_HUMAN	V	351;426	ENSP00000362302:A351V;ENSP00000362300:A426V	ENSP00000362300:A426V	A	+	2	0	EIF2C1	36140405	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.818000	0.86416	2.697000	0.92050	0.655000	0.94253	GCC		0.572	AGO1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019337.3			41	69	0	0	0	1	0	41	69					T	36367818	C	T	36367818	3	4	435	1	0	0	0	0	1	0	0	0	5005	739	26	3	1319	3	EIF2C1	1	36367818	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	9579	36367818	212882803	254	21179											
EIF2C3	192669	broad.mit.edu	37	chr1	36474545	36474545	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aactgtggagagaacagtagCgcagtatttcagagaaaagt	16	8	12	5	1	1	2	1	0	0	2	1	5	1	3	0	1	3	3	0	1	6	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:36474545C>T	ENST00000373191.4	+	8	1278	c.929C>T	c.(928-930)gCg>gTg	p.A310V	AGO3_ENST00000246314.6_Missense_Mutation_p.A76V|RP4-665N4.8_ENST00000479395.2_RNA|RP4-665N4.8_ENST00000466576.2_RNA	NM_024852.3	NP_079128.2	Q9H9G7	AGO3_HUMAN	argonaute RISC catalytic component 3	310	PAZ. {ECO:0000255|HAMAP-Rule:MF_03032}.				epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|mRNA catabolic process (GO:0006402)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)|regulation of stem cell proliferation (GO:0072091)	cytosol (GO:0005829)|membrane (GO:0016020)|micro-ribonucleoprotein complex (GO:0035068)|RISC complex (GO:0016442)	miRNA binding (GO:0035198)|poly(A) RNA binding (GO:0044822)										AGAACAGTAGCGCAGTATTTC	0.443																																						ENST00000373191.4																			0											c.(928-930)gCg>gTg		argonaute RISC catalytic component 3							83	85	84					1																	36474545		2203	4300	6503	SO:0001583	missense	192669							g.chr1:36474545C>T	AB046787	CCDS399.1, CCDS400.1	1p34	2013-06-03	2013-02-15	2013-02-15	ENSG00000126070	ENSG00000126070		"Argonaute/PIWI family"	18421	protein-coding gene	gene with protein product	"argonaute 3"	607355	"eukaryotic translation initiation factor 2C, 3"	EIF2C3		12906857	Standard	NM_024852		Approved	hAGO3, FLJ12765	uc001bzp.3	Q9H9G7	OTTHUMG00000184172	ENST00000373191.4:c.929C>T	1.37:g.36474545C>T	ENSP00000362287:p.Ala310Val					RP4-665N4.8_ENST00000466576.2_RNA|AGO3_ENST00000246314.6_Missense_Mutation_p.A76V	p.A310V	NM_024852.3	NP_079128.2					8	1278	+								B1ALI0|Q5TA55|Q9H1U6	Missense_Mutation	SNP	ENST00000373191.4	37	c.929C>T	CCDS399.1	.	.	.	.	.	.	.	.	.	.	C	15.72	2.916728	0.52546	.	.	ENSG00000126070	ENST00000373191;ENST00000246314	T;T	0.14893	2.47;2.47	5.58	5.58	0.84498	Argonaute/Dicer protein, PAZ (4);	0.000000	0.85682	D	0.000000	T	0.20414	0.0491	L	0.45470	1.425	0.80722	D	1	B	0.24092	0.097	B	0.32724	0.151	T	0.06935	-1.0799	10	0.10377	T	0.69	-30.8593	19.5743	0.95436	0.0:1.0:0.0:0.0	.	310	Q9H9G7	AGO3_HUMAN	V	310;76	ENSP00000362287:A310V;ENSP00000246314:A76V	ENSP00000246314:A76V	A	+	2	0	EIF2C3	36247132	1.000000	0.71417	0.999000	0.59377	0.991000	0.79684	7.818000	0.86416	2.611000	0.88343	0.655000	0.94253	GCG		0.443	AGO3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019831.4	NM_024852		20	38	0	0	0	1	0	20	38					T	36474545	C	T	36474545	3	4	435	1	0	0	0	0	1	0	0	0	5007	768	27	1	959	1	EIF2C3	1	36474545	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	106727	36474545	212776076	255	21180											
TEKT2	27285	broad.mit.edu	37	chr1	36552435	36552435	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgctgaaggttgaccccacaCgtgtacctgatgggtaagaa	11	8	12	10	2	0	4	0	3	0	1	0	4	0	4	3	2	1	4	3	2	4	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:36552435C>T	ENST00000207457.3	+	5	746	c.619C>T	c.(619-621)Cgt>Tgt	p.R207C	ADPRHL2_ENST00000373178.4_5'Flank	NM_014466.2	NP_055281.2	Q9UIF3	TEKT2_HUMAN	tektin 2 (testicular)	207					cell projection organization (GO:0030030)|inner dynein arm assembly (GO:0036159)|sperm motility (GO:0030317)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|motile cilium (GO:0031514)|nucleus (GO:0005634)		p.R207C(1)		breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(2)|pancreas(1)|skin(2)	13		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				TGACCCCACACGTGTACCTGA	0.562																																						ENST00000207457.3																			1	Substitution - Missense(1)	p.R207C(1)	endometrium(1)	breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(2)|pancreas(1)|skin(2)	13						c.(619-621)Cgt>Tgt		tektin 2 (testicular)							149	126	134					1																	36552435		2203	4300	6503	SO:0001583	missense	27285				cell projection organization|microtubule cytoskeleton organization	actin cytoskeleton|cilium axoneme|flagellar axoneme|focal adhesion|microtubule|nucleolus		g.chr1:36552435C>T	AB033823	CCDS401.1	1p34.3	2008-02-05			ENSG00000092850	ENSG00000092850			11725	protein-coding gene	gene with protein product		608953				12029069, 11751288	Standard	NM_014466		Approved	TEKTB1	uc001bzr.3	Q9UIF3	OTTHUMG00000007629	ENST00000207457.3:c.619C>T	1.37:g.36552435C>T	ENSP00000207457:p.Arg207Cys						p.R207C	NM_014466.2	NP_055281.2	Q9UIF3	TEKT2_HUMAN			5	746	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)	207					A6NIS6|O60638	Missense_Mutation	SNP	ENST00000207457.3	37	c.619C>T	CCDS401.1	.	.	.	.	.	.	.	.	.	.	C	15.10	2.731951	0.48939	.	.	ENSG00000092850	ENST00000207457	T	0.03358	3.96	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	T	0.25531	0.0621	M	0.89095	3.005	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.02294	-1.1181	10	0.87932	D	0	.	19.6991	0.96045	0.0:1.0:0.0:0.0	.	207	Q9UIF3	TEKT2_HUMAN	C	207	ENSP00000207457:R207C	ENSP00000207457:R207C	R	+	1	0	TEKT2	36325022	0.997000	0.39634	0.811000	0.32455	0.191000	0.23601	3.706000	0.54830	2.654000	0.90174	0.563000	0.77884	CGT		0.562	TEKT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000020200.1	NM_014466		26	47	0	0	0	1	0	26	47					T	36552435	C	T	36552435	3	4	435	1	0	0	0	0	1	0	0	0	15750	536	19	1	633	1	TEKT2	1	36552435	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	77890	36552435	212698186	256	21181											
MAP7D1	55700	broad.mit.edu	37	chr1	36639029	36639029	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggccgaaatccggcagcagcGctggtcctgggcaggggccc	6	4	17	14	3	0	0	0	0	0	0	2	1	2	0	4	6	2	4	4	6	1	0	rs148371637		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:36639029G>A	ENST00000373151.2	+	5	905	c.689G>A	c.(688-690)cGc>cAc	p.R230H	MAP7D1_ENST00000474796.1_3'UTR|MAP7D1_ENST00000373150.4_Missense_Mutation_p.R230H|MAP7D1_ENST00000316156.4_Missense_Mutation_p.R230H	NM_018067.3	NP_060537.3	Q3KQU3	MA7D1_HUMAN	MAP7 domain containing 1	230					microtubule cytoskeleton organization (GO:0000226)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)				breast(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(3)|skin(1)|urinary_tract(1)	19		Myeloproliferative disorder(586;0.0393)				CGGCAGCAGCGCTGGTCCTGG	0.627																																						ENST00000316156.4																			0				breast(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(3)|skin(1)|urinary_tract(1)	19						c.(688-690)cGc>cAc		MAP7 domain containing 1		G	HIS/ARG	0,4406		0,0,2203	71	70	70		689	5.2	1	1	dbSNP_134	70	2,8598	2.2+/-6.3	0,2,4298	no	missense	MAP7D1	NM_018067.3	29	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	probably-damaging	230/842	36639029	2,13004	2203	4300	6503	SO:0001583	missense	55700					cytoplasm|spindle		g.chr1:36639029G>A	AK096341	CCDS30673.1, CCDS65492.1, CCDS65493.1	1p34.3	2008-02-05	2007-02-08	2007-02-08	ENSG00000116871	ENSG00000116871			25514	protein-coding gene	gene with protein product			"proline arginine rich coiled coil 1", "arginine/proline rich coiled-coil 1"	PARCC1, RPRC1		10574461	Standard	XM_005271024		Approved	FLJ10350, FLJ39022	uc001bzz.3	Q3KQU3	OTTHUMG00000007714	ENST00000373151.2:c.689G>A	1.37:g.36639029G>A	ENSP00000362244:p.Arg230His					MAP7D1_ENST00000373150.4_Missense_Mutation_p.R230H|MAP7D1_ENST00000474796.1_3'UTR|MAP7D1_ENST00000373151.2_Missense_Mutation_p.R230H	p.R230H			Q3KQU3	MA7D1_HUMAN			5	1142	+		Myeloproliferative disorder(586;0.0393)	230					D3DPS4|Q7L8J5|Q8N905|Q8TAK0|Q9HBQ2|Q9NW29|Q9ULN3	Missense_Mutation	SNP	ENST00000373151.2	37	c.689G>A	CCDS30673.1	.	.	.	.	.	.	.	.	.	.	G	36	5.736378	0.96865	0.0	2.33E-4	ENSG00000116871	ENST00000429533;ENST00000316156;ENST00000373150;ENST00000373151	T;T;T;T	0.12569	2.67;2.67;2.67;2.67	5.22	5.22	0.72569	.	0.000000	0.42420	D	0.000702	T	0.41719	0.1171	M	0.81341	2.54	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.80764	0.974;0.989;0.994	T	0.36986	-0.9725	10	0.87932	D	0	-14.6252	17.7316	0.88379	0.0:0.0:1.0:0.0	.	230;230;230	Q3KQU3-2;Q3KQU3-4;Q3KQU3	.;.;MA7D1_HUMAN	H	191;230;230;230	ENSP00000390091:R191H;ENSP00000320228:R230H;ENSP00000362243:R230H;ENSP00000362244:R230H	ENSP00000320228:R230H	R	+	2	0	MAP7D1	36411616	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.201000	0.95017	2.620000	0.88729	0.655000	0.94253	CGC		0.627	MAP7D1-009	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382095.1	NM_018067		33	50	0	0	0	1	0	33	50					A	36639029	G	A	36639029	3	1	435	1	0	0	0	0	1	0	0	0	9267	1087	38	1	707	1	MAP7D1	1	36639029	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	86594	36639029	212611592	257	21182											
MAP7D1	55700	broad.mit.edu	37	chr1	36643582	36643582	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ctgcctccaaagccaccgtcCccccgaggcaccactgcatc	8	5	7	21	2	0	0	0	0	0	0	3	1	2	0	8	1	3	2	8	1	1	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:36643582C>T	ENST00000373151.2	+	9	1704	c.1488C>T	c.(1486-1488)tcC>tcT	p.S496S	MAP7D1_ENST00000373150.4_Silent_p.S464S|MAP7D1_ENST00000373148.4_Silent_p.S42S|MAP7D1_ENST00000316156.4_Silent_p.S459S	NM_018067.3	NP_060537.3	Q3KQU3	MA7D1_HUMAN	MAP7 domain containing 1	496	Pro-rich.				microtubule cytoskeleton organization (GO:0000226)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)				breast(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(3)|skin(1)|urinary_tract(1)	19		Myeloproliferative disorder(586;0.0393)				AGCCACCGTCCCCCCGAGGCA	0.701																																						ENST00000316156.4																			0				breast(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(3)|skin(1)|urinary_tract(1)	19						c.(1375-1377)tcC>tcT		MAP7 domain containing 1							58	59	59					1																	36643582		2203	4300	6503	SO:0001819	synonymous_variant	55700					cytoplasm|spindle		g.chr1:36643582C>T	AK096341	CCDS30673.1, CCDS65492.1, CCDS65493.1	1p34.3	2008-02-05	2007-02-08	2007-02-08	ENSG00000116871	ENSG00000116871			25514	protein-coding gene	gene with protein product			"proline arginine rich coiled coil 1", "arginine/proline rich coiled-coil 1"	PARCC1, RPRC1		10574461	Standard	XM_005271024		Approved	FLJ10350, FLJ39022	uc001bzz.3	Q3KQU3	OTTHUMG00000007714	ENST00000373151.2:c.1488C>T	1.37:g.36643582C>T						MAP7D1_ENST00000373150.4_Silent_p.S464S|MAP7D1_ENST00000373148.4_Silent_p.S42S|MAP7D1_ENST00000373151.2_Silent_p.S496S	p.S459S			Q3KQU3	MA7D1_HUMAN			8	1830	+		Myeloproliferative disorder(586;0.0393)	496					D3DPS4|Q7L8J5|Q8N905|Q8TAK0|Q9HBQ2|Q9NW29|Q9ULN3	Silent	SNP	ENST00000373151.2	37	c.1377C>T	CCDS30673.1	.	.	.	.	.	.	.	.	.	.	C	4.582	0.108117	0.08780	.	.	ENSG00000116871	ENST00000530975	.	.	.	4.95	-1.74	0.08056	.	.	.	.	.	T	0.48059	0.1479	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.34378	-0.9831	4	.	.	.	-18.4836	4.539	0.12047	0.1461:0.4228:0.0:0.431	.	.	.	.	S	79	.	.	P	+	1	0	MAP7D1	36416169	0.002000	0.14202	0.823000	0.32752	0.318000	0.28184	-1.163000	0.03138	-0.524000	0.06400	-0.218000	0.12543	CCC		0.701	MAP7D1-009	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382095.1	NM_018067		13	18	0	0	0	1	0	13	18					T	36643582	C	T	36643582	2	4	435	1	0	0	0	0	0	0	0	1	9267	610	22	3		3	MAP7D1	1	36643582	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	4553	36643582	212607039	258	21183											
THRAP3	9967	broad.mit.edu	37	chr1	36755134	36755134	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	atccaaaaaggaagatcgggGcaagagaagcgaaggtgggc	16	3	16	6	2	0	2	0	0	0	2	2	5	1	3	1	5	1	1	1	5	6	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:36755134G>A	ENST00000354618.5	+	5	1738	c.1514G>A	c.(1513-1515)gGc>gAc	p.G505D	THRAP3_ENST00000469141.2_Missense_Mutation_p.G505D	NM_005119.3	NP_005110.2	Q9Y2W1	TR150_HUMAN	thyroid hormone receptor associated protein 3	505	Required for mRNA decay activity.				androgen receptor signaling pathway (GO:0030521)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|mRNA processing (GO:0006397)|mRNA stabilization (GO:0048255)|nuclear-transcribed mRNA catabolic process (GO:0000956)|positive regulation of mRNA splicing, via spliceosome (GO:0048026)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing (GO:0008380)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|phosphoprotein binding (GO:0051219)|poly(A) RNA binding (GO:0044822)|receptor activity (GO:0004872)|RNA polymerase II transcription cofactor activity (GO:0001104)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(5)|stomach(1)	37		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				GAAGATCGGGGCAAGAGAAGC	0.522			T	USP6	aneurysmal bone cysts																																Pancreas(129;785 1795 20938 23278 32581)	ENST00000354618.5				Dom	yes		1	1p34.3	9967	T	thyroid hormone receptor associated protein 3 (TRAP150)			M	USP6		aneurysmal bone cysts		0				breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(5)|stomach(1)	37						c.(1513-1515)gGc>gAc		thyroid hormone receptor associated protein 3							87	99	95					1																	36755134		2203	4300	6503	SO:0001583	missense	9967				androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ATP binding|ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	g.chr1:36755134G>A	AF117756	CCDS405.1	1p34.3	2008-02-05			ENSG00000054118	ENSG00000054118			22964	protein-coding gene	gene with protein product		603809					Standard	NM_005119		Approved	TRAP150	uc001cae.4	Q9Y2W1	OTTHUMG00000007866	ENST00000354618.5:c.1514G>A	1.37:g.36755134G>A	ENSP00000346634:p.Gly505Asp					THRAP3_ENST00000469141.2_Missense_Mutation_p.G505D	p.G505D	NM_005119.3	NP_005110.2	Q9Y2W1	TR150_HUMAN			5	1738	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)	505					D3DPS5|Q5VTK6	Missense_Mutation	SNP	ENST00000354618.5	37	c.1514G>A	CCDS405.1	.	.	.	.	.	.	.	.	.	.	G	3.597	-0.082291	0.07141	.	.	ENSG00000054118	ENST00000354618;ENST00000469141	T;T	0.13657	2.57;2.57	5.84	4.88	0.63580	.	0.357416	0.26414	N	0.024507	T	0.09949	0.0244	N	0.22421	0.69	0.25023	N	0.991329	B	0.28933	0.228	B	0.27796	0.083	T	0.17745	-1.0359	10	0.46703	T	0.11	-8.411	11.5538	0.50735	0.0755:0.2077:0.7168:0.0	.	505	Q9Y2W1	TR150_HUMAN	D	505	ENSP00000346634:G505D;ENSP00000433825:G505D	ENSP00000346634:G505D	G	+	2	0	THRAP3	36527721	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	1.293000	0.33353	2.765000	0.95021	0.655000	0.94253	GGC		0.522	THRAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021688.2	NM_005119		5	83	0	0	0	1	0	5	83					A	36755134	G	A	36755134	3	1	435	1	0	0	0	0	1	0	0	0	15871	1203	42	3	1524	3	THRAP3	1	36755134	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	111552	36755134	212495487	259	21184											
STK40	83931	broad.mit.edu	37	chr1	36809556	36809556	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agcttccggatgagacacacGgtgttctcagaaacccgtcc	10	8	10	13	3	1	2	1	1	1	2	4	4	3	3	3	2	2	2	3	2	1	2	rs374295999		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:36809556G>A	ENST00000373129.3	-	10	1315	c.909C>T	c.(907-909)acC>acT	p.T303T	STK40_ENST00000373132.3_Silent_p.T303T|STK40_ENST00000373130.3_Silent_p.T308T|STK40_ENST00000359297.2_Silent_p.T303T	NM_032017.1	NP_114406.1	Q8N2I9	STK40_HUMAN	serine/threonine kinase 40	303	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				glycogen metabolic process (GO:0005977)|lung alveolus development (GO:0048286)|lung morphogenesis (GO:0060425)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|regulation of gene expression (GO:0010468)|regulation of MAPK cascade (GO:0043408)|respiratory system process (GO:0003016)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)|stomach(1)	13		Myeloproliferative disorder(586;0.0393)				TGAGACACACGGTGTTCTCAG	0.642																																						ENST00000359297.2																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)|stomach(1)	13						c.(907-909)acC>acT		serine/threonine kinase 40				0,4406		0,0,2203	36	38	37		909	-10.1	0.2	1		37	1,8599	813.1+/-407.0	0,1,4299	no	coding-synonymous	STK40	NM_032017.1		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		303/436	36809556	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	83931					cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity	g.chr1:36809556G>A	BC008344	CCDS407.1, CCDS60089.1	1p34.3	2008-02-05			ENSG00000196182	ENSG00000196182			21373	protein-coding gene	gene with protein product		609437					Standard	NM_032017		Approved	MGC4796, SgK495	uc001cak.1	Q8N2I9	OTTHUMG00000008238	ENST00000373129.3:c.909C>T	1.37:g.36809556G>A						STK40_ENST00000373129.3_Silent_p.T303T|STK40_ENST00000373130.3_Silent_p.T308T|STK40_ENST00000373132.3_Silent_p.T303T	p.T303T			Q8N2I9	STK40_HUMAN			8	916	-		Myeloproliferative disorder(586;0.0393)	303			Protein kinase.		D3DPS8|Q5VTK8|Q5VTK9|Q6ZMN1|Q8N2J8|Q8N3I6|Q96HN6|Q96I44|Q9BSA3|Q9H7H6	Silent	SNP	ENST00000373129.3	37	c.909C>T	CCDS407.1																																																																																				0.642	STK40-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000022592.1	NM_032017		14	23	0	0	0	1	0	14	23					A	36809556	G	A	36809556	2	1	435	1	0	0	0	0	0	0	0	1	15306	1103	39	2		2	STK40	1	36809556	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	54422	36809556	212441065	260	21185											
SNIP1	79753	broad.mit.edu	37	chr1	38005759	38005759	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cttcctccatgttacttaccGatattgaaagaccgcatgct	10	13	6	12	2	0	2	0	1	0	1	2	3	2	2	4	0	3	3	4	0	4	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:38005759G>A	ENST00000296215.6	-	3	997	c.925C>T	c.(925-927)Cgg>Tgg	p.R309W	SNIP1_ENST00000468040.1_5'Flank	NM_024700.3	NP_078976.2	Q8TAD8	SNIP1_HUMAN	Smad nuclear interacting protein 1	309	FHA. {ECO:0000255|PROSITE- ProRule:PRU00086}.				I-kappaB kinase/NF-kappaB signaling (GO:0007249)|production of miRNAs involved in gene silencing by miRNA (GO:0035196)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(2)|cervix(2)|endometrium(1)|large_intestine(3)|lung(15)|ovary(1)|upper_aerodigestive_tract(1)	25		Myeloproliferative disorder(586;0.0393)				GTTACTTACCGATATTGAAAG	0.428																																						ENST00000296215.6																			0				breast(2)|cervix(2)|endometrium(1)|large_intestine(3)|lung(15)|ovary(1)|upper_aerodigestive_tract(1)	25						c.e3+1		Smad nuclear interacting protein 1							120	115	117					1																	38005759		2203	4300	6503	SO:0001630	splice_region_variant	79753				production of miRNAs involved in gene silencing by miRNA	nucleus	protein binding	g.chr1:38005759G>A		CCDS419.1	1p34.3	2010-07-06			ENSG00000163877	ENSG00000163877			30587	protein-coding gene	gene with protein product		608241				10887155, 15378006	Standard	NM_024700		Approved		uc001cbi.4	Q8TAD8	OTTHUMG00000004225	ENST00000296215.6:c.926+1C>T	1.37:g.38005759G>A							p.R309_splice	NM_024700.3	NP_078976.2	Q8TAD8	SNIP1_HUMAN			3	997	-		Myeloproliferative disorder(586;0.0393)	309			FHA.		Q96SP9|Q9H9T7	Splice_Site	SNP	ENST00000296215.6	37	c.926_splice	CCDS419.1	.	.	.	.	.	.	.	.	.	.	G	19.43	3.826891	0.71143	.	.	ENSG00000163877	ENST00000296215;ENST00000436196	D	0.87334	-2.24	5.88	2.79	0.32731	Forkhead-associated (FHA) domain (4);SMAD/FHA domain (1);	0.000000	0.85682	D	0.000000	D	0.94218	0.8144	M	0.90019	3.08	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.95140	0.8263	10	0.87932	D	0	-19.6379	15.2983	0.73928	0.0:0.0:0.4:0.6	.	309	Q8TAD8	SNIP1_HUMAN	W	309;293	ENSP00000296215:R309W	ENSP00000296215:R309W	R	-	1	2	SNIP1	37778346	1.000000	0.71417	0.997000	0.53966	0.965000	0.64279	2.545000	0.45769	0.752000	0.32923	0.655000	0.94253	CGG		0.428	SNIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012169.2	NM_024700	Missense_Mutation	5	98	0	0	0	1	0	5	98					A	38005759	G	A	38005759	5	1	435	1	0	0	0	0	0	0	1	0	14848	1072	37	2	273	2	SNIP1	1	38005759	Splice_Site	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	1196203	38005759	211244862	261	21186											
GNL2	29889	broad.mit.edu	37	chr1	38048477	38048477	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agtttcaatgtgaggggaacGagtacccattggatctctag	11	11	12	7	1	2	1	1	1	1	0	3	4	2	3	1	3	2	2	1	3	4	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:38048477G>A	ENST00000373062.3	-	7	795	c.697C>T	c.(697-699)Cgt>Tgt	p.R233C		NM_013285.2	NP_037417.1	Q13823	NOG2_HUMAN	guanine nucleotide binding protein-like 2 (nucleolar)	233	CP-type G. {ECO:0000255|PROSITE- ProRule:PRU01058}.				GTP catabolic process (GO:0006184)|ribosome biogenesis (GO:0042254)	membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	30		Myeloproliferative disorder(586;0.0393)				TGAGGGGAACGAGTACCCATT	0.393																																						ENST00000373062.3																			0				breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	30						c.(697-699)Cgt>Tgt		guanine nucleotide binding protein-like 2 (nucleolar)							161	150	154					1																	38048477		2203	4300	6503	SO:0001583	missense	29889				ribosome biogenesis	nucleolus	GTP binding|GTPase activity|protein binding	g.chr1:38048477G>A	L05425	CCDS421.1	1p34	2008-02-05			ENSG00000134697	ENSG00000134697			29925	protein-coding gene	gene with protein product		609365				8822211	Standard	NM_013285		Approved	Ngp-1, HUMAUANTIG	uc001cbk.3	Q13823	OTTHUMG00000004322	ENST00000373062.3:c.697C>T	1.37:g.38048477G>A	ENSP00000362153:p.Arg233Cys						p.R233C	NM_013285.2	NP_037417.1	Q13823	NOG2_HUMAN			7	795	-		Myeloproliferative disorder(586;0.0393)	233					Q9BWN7	Missense_Mutation	SNP	ENST00000373062.3	37	c.697C>T	CCDS421.1	.	.	.	.	.	.	.	.	.	.	G	32	5.189937	0.94923	.	.	ENSG00000134697	ENST00000373062;ENST00000545489	T	0.15603	2.41	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	T	0.60353	0.2262	H	0.96916	3.905	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.73733	-0.3890	10	0.87932	D	0	-10.2933	20.205	0.98274	0.0:0.0:1.0:0.0	.	233	Q13823	NOG2_HUMAN	C	233;74	ENSP00000362153:R233C	ENSP00000362153:R233C	R	-	1	0	GNL2	37821064	1.000000	0.71417	1.000000	0.80357	0.927000	0.56198	9.822000	0.99363	2.777000	0.95525	0.591000	0.81541	CGT		0.393	GNL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012478.1	NM_013285		23	36	0	0	0	1	0	23	36					A	38048477	G	A	38048477	3	1	435	1	0	0	0	0	1	0	0	0	6536	1058	37	2	1538	2	GNL2	1	38048477	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	42718	38048477	211202144	262	21187											
EPHA10	284656	broad.mit.edu	37	chr1	38188716	38188716	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgggcgcccagcttgcctcCtccaaggctcctctccagcg	4	8	10	19	2	1	0	0	0	1	0	5	0	4	0	6	2	3	2	6	2	1	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:38188716C>A	ENST00000373048.4	-	10	1956	c.1957G>T	c.(1957-1959)Gga>Tga	p.G653*	EPHA10_ENST00000446149.2_5'UTR|EPHA10_ENST00000427468.2_Nonsense_Mutation_p.G653*|EPHA10_ENST00000330210.7_Nonsense_Mutation_p.G148*|EPHA10_ENST00000540011.1_Nonsense_Mutation_p.G148*	NM_001099439.1	NP_001092909.1	Q5JZY3	EPHAA_HUMAN	EPH receptor A10	653	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				ephrin receptor signaling pathway (GO:0048013)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|transmembrane-ephrin receptor activity (GO:0005005)			NS(2)|breast(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(13)|prostate(3)|skin(8)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				AGCTTGCCTCCTCCAAGGCTC	0.617																																						ENST00000373048.4																			0				NS(2)|breast(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(13)|prostate(3)|skin(8)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						c.(1957-1959)Gga>Tga		EPH receptor A10							49	55	53					1																	38188716		2121	4209	6330	SO:0001587	stop_gained	284656					extracellular region|integral to membrane|integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding|transmembrane-ephrin receptor activity	g.chr1:38188716C>A	AK090974	CCDS425.1, CCDS41305.1	1p34.3	2013-02-11			ENSG00000183317	ENSG00000183317		"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	19987	protein-coding gene	gene with protein product		611123				12477932	Standard	NM_001099439		Approved	FLJ16103, FLJ33655	uc009vvi.3	Q5JZY3	OTTHUMG00000004325	ENST00000373048.4:c.1957G>T	1.37:g.38188716C>A	ENSP00000362139:p.Gly653*					EPHA10_ENST00000540011.1_Nonsense_Mutation_p.G148*|EPHA10_ENST00000330210.7_Nonsense_Mutation_p.G148*|EPHA10_ENST00000427468.2_Nonsense_Mutation_p.G653*|EPHA10_ENST00000446149.2_5'UTR	p.G653*	NM_001099439.1	NP_001092909.1	Q5JZY3	EPHAA_HUMAN			10	1956	-	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)	653			Protein kinase.		A4FU89|J3KPB5|Q6NW42	Nonsense_Mutation	SNP	ENST00000373048.4	37	c.1957G>T	CCDS41305.1	.	.	.	.	.	.	.	.	.	.	C	11.45	1.643185	0.29246	.	.	ENSG00000183317	ENST00000330210;ENST00000427468;ENST00000540011;ENST00000373048	.	.	.	3.43	0.16	0.14972	.	1.538920	0.04523	N	0.384888	.	.	.	.	.	.	0.54753	A	0.999989	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	2.0314	0.03530	0.2531:0.3529:0.0:0.394	.	.	.	.	X	148;653;148;653	.	ENSP00000330379:G148X	G	-	1	0	EPHA10	37961303	0.298000	0.24417	0.998000	0.56505	0.086000	0.17979	-0.186000	0.09670	0.198000	0.20407	0.313000	0.20887	GGA		0.617	EPHA10-003	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000012497.2	NM_173641		14	27	1	0	7.93312e-07	1	8.27737e-07	14	27					A	38188716	C	A	38188716	4	1	435	1	0	0	0	0	0	1	0	0	5166	690	24	5	1101	5	EPHA10	1	38188716	Nonsense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	140239	38188716	211061905	263	21188											
EPHA10	284656	broad.mit.edu	37	chr1	38227057	38227057	+	Intron	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ctctacactcccaccccacgGcccccagccaactggatacc	9	5	5	22	1	1	0	0	0	1	0	2	1	2	1	7	2	4	0	7	2	3	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:38227057G>A	ENST00000373048.4	-	3	850				EPHA10_ENST00000427468.2_Intron|EPHA10_ENST00000319637.6_Silent_p.G290G	NM_001099439.1	NP_001092909.1	Q5JZY3	EPHAA_HUMAN	EPH receptor A10						ephrin receptor signaling pathway (GO:0048013)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|transmembrane-ephrin receptor activity (GO:0005005)			NS(2)|breast(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(13)|prostate(3)|skin(8)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				CCACCCCACGGCCCCCAGCCA	0.662																																						ENST00000319637.6																			0				NS(2)|breast(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(13)|prostate(3)|skin(8)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						c.(868-870)ggC>ggT		EPH receptor A10							78	85	83					1																	38227057		2136	4105	6241	SO:0001627	intron_variant	284656					extracellular region|integral to membrane|integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding|transmembrane-ephrin receptor activity	g.chr1:38227057G>A	AK090974	CCDS425.1, CCDS41305.1	1p34.3	2013-02-11			ENSG00000183317	ENSG00000183317		"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	19987	protein-coding gene	gene with protein product		611123				12477932	Standard	NM_001099439		Approved	FLJ16103, FLJ33655	uc009vvi.3	Q5JZY3	OTTHUMG00000004325	ENST00000373048.4:c.850+19C>T	1.37:g.38227057G>A						EPHA10_ENST00000373048.4_Intron|EPHA10_ENST00000427468.2_Intron	p.G290G	NM_173641.2	NP_775912.2	Q5JZY3	EPHAA_HUMAN			3	936	-	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)	0					A4FU89|J3KPB5|Q6NW42	Silent	SNP	ENST00000373048.4	37	c.870C>T	CCDS41305.1																																																																																				0.662	EPHA10-003	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000012497.2	NM_173641		27	30	0	0	0	1	0	27	30					A	38227057	G	A	38227057	1	1	435	0	1	0	0	0	0	0	0	0	5166	1190	42	3		3	EPHA10	1	38227057	Intron	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	38341	38227057	211023564	264	21189											
EPHA10	284656	broad.mit.edu	37	chr1	38227558	38227558	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tagtagacgttgaaggtctcCttgcaggtacccgcggcgcc	7	9	13	12	4	1	2	0	1	1	1	2	2	1	2	3	3	2	4	3	3	4	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:38227558C>A	ENST00000373048.4	-	3	368	c.369G>T	c.(367-369)aaG>aaT	p.K123N	EPHA10_ENST00000427468.2_Missense_Mutation_p.K123N|EPHA10_ENST00000319637.6_Missense_Mutation_p.K123N	NM_001099439.1	NP_001092909.1	Q5JZY3	EPHAA_HUMAN	EPH receptor A10	123	Eph LBD. {ECO:0000255|PROSITE- ProRule:PRU00883}.				ephrin receptor signaling pathway (GO:0048013)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|transmembrane-ephrin receptor activity (GO:0005005)			NS(2)|breast(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(13)|prostate(3)|skin(8)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				TGAAGGTCTCCTTGCAGGTAC	0.662																																						ENST00000373048.4																			0				NS(2)|breast(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(13)|prostate(3)|skin(8)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						c.(367-369)aaG>aaT		EPH receptor A10							82	86	85					1																	38227558		2203	4300	6503	SO:0001583	missense	284656					extracellular region|integral to membrane|integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding|transmembrane-ephrin receptor activity	g.chr1:38227558C>A	AK090974	CCDS425.1, CCDS41305.1	1p34.3	2013-02-11			ENSG00000183317	ENSG00000183317		"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	19987	protein-coding gene	gene with protein product		611123				12477932	Standard	NM_001099439		Approved	FLJ16103, FLJ33655	uc009vvi.3	Q5JZY3	OTTHUMG00000004325	ENST00000373048.4:c.369G>T	1.37:g.38227558C>A	ENSP00000362139:p.Lys123Asn					EPHA10_ENST00000319637.6_Missense_Mutation_p.K123N|EPHA10_ENST00000427468.2_Missense_Mutation_p.K123N	p.K123N	NM_001099439.1	NP_001092909.1	Q5JZY3	EPHAA_HUMAN			3	368	-	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)	123					A4FU89|J3KPB5|Q6NW42	Missense_Mutation	SNP	ENST00000373048.4	37	c.369G>T	CCDS41305.1	.	.	.	.	.	.	.	.	.	.	C	18.62	3.662922	0.67700	.	.	ENSG00000183317	ENST00000427468;ENST00000373048;ENST00000319637	T;T;T	0.05649	3.41;3.41;3.41	4.61	3.7	0.42460	Ephrin receptor, ligand binding (2);Galactose-binding domain-like (1);	0.000000	0.43747	D	0.000537	T	0.32133	0.0819	M	0.93375	3.41	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	T	0.39418	-0.9615	10	0.87932	D	0	.	11.8581	0.52451	0.0:0.9146:0.0:0.0854	.	123;123	Q5JZY3;Q5JZY3-2	EPHAA_HUMAN;.	N	123	ENSP00000397746:K123N;ENSP00000362139:K123N;ENSP00000316395:K123N	ENSP00000316395:K123N	K	-	3	2	EPHA10	38000145	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.598000	0.36740	1.273000	0.44346	0.549000	0.68633	AAG		0.662	EPHA10-003	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000012497.2	NM_173641		33	45	1	0	2.66277e-13	1	2.8908e-13	33	45					A	38227558	C	A	38227558	3	1	435	1	0	0	0	0	1	0	0	0	5166	680	24	5	2755	5	EPHA10	1	38227558	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	501	38227558	211023063	265	21190											
MTF1	4520	broad.mit.edu	37	chr1	38289411	38289411	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaggatcttcctgaattgccGtatcatctgaattctggaac	10	13	9	9	1	4	2	1	2	3	0	5	5	5	4	2	2	2	1	2	2	4	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:38289411G>A	ENST00000373036.4	-	8	1282	c.1142C>T	c.(1141-1143)aCg>aTg	p.T381M		NM_005955.2	NP_005946.2	Q14872	MTF1_HUMAN	metal-regulatory transcription factor 1	381					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to cadmium ion (GO:0046686)|response to metal ion (GO:0010038)|response to oxidative stress (GO:0006979)	nucleus (GO:0005634)	core promoter binding (GO:0001047)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			endometrium(3)|kidney(5)|large_intestine(6)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(1)	31	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				CTGAATTGCCGTATCATCTGA	0.453																																						ENST00000373036.4																			0				endometrium(3)|kidney(5)|large_intestine(6)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(1)	31						c.(1141-1143)aCg>aTg		metal-regulatory transcription factor 1							188	147	161					1																	38289411		2203	4300	6503	SO:0001583	missense	4520					nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|zinc ion binding	g.chr1:38289411G>A	BC014454	CCDS30676.1	1p33	2008-02-05			ENSG00000188786	ENSG00000188786			7428	protein-coding gene	gene with protein product		600172				8065932	Standard	NM_005955		Approved		uc001cce.1	Q14872	OTTHUMG00000004439	ENST00000373036.4:c.1142C>T	1.37:g.38289411G>A	ENSP00000362127:p.Thr381Met						p.T381M	NM_005955.2	NP_005946.2	Q14872	MTF1_HUMAN			8	1282	-	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)	381					B2RAK6|Q96CB1	Missense_Mutation	SNP	ENST00000373036.4	37	c.1142C>T	CCDS30676.1	.	.	.	.	.	.	.	.	.	.	G	14.87	2.664063	0.47572	.	.	ENSG00000188786	ENST00000373036	T	0.10573	2.86	5.3	5.3	0.74995	.	0.448523	0.27159	N	0.020655	T	0.12220	0.0297	L	0.40543	1.245	0.09310	N	1	P	0.42337	0.776	B	0.37550	0.253	T	0.08722	-1.0708	10	0.59425	D	0.04	.	18.9513	0.92642	0.0:0.0:1.0:0.0	.	381	Q14872	MTF1_HUMAN	M	381	ENSP00000362127:T381M	ENSP00000362127:T381M	T	-	2	0	MTF1	38061998	0.664000	0.27457	0.032000	0.17829	0.943000	0.58893	4.578000	0.60929	2.492000	0.84095	0.563000	0.77884	ACG		0.453	MTF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012984.2	NM_005955		9	16	0	0	0	1	0	9	16					A	38289411	G	A	38289411	3	1	435	1	0	0	0	0	1	0	0	0	9922	1145	40	1	1135	1	MTF1	1	38289411	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	61853	38289411	210961210	266	21191											
MACF1	23499	broad.mit.edu	37	chr1	39801166	39801166	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tttgcagcaaccaatgaatgCtcgggtgaaaagtaagagag	15	8	12	6	1	0	3	0	2	0	1	1	4	0	3	1	1	4	4	1	1	6	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:39801166C>T	ENST00000372915.3	+	36	9008	c.8921C>T	c.(8920-8922)gCt>gTt	p.A2974V	MACF1_ENST00000564288.1_Missense_Mutation_p.A2969V|MACF1_ENST00000289893.4_Missense_Mutation_p.A1409V|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000476350.1_Intron|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000567887.1_Missense_Mutation_p.A3006V|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000361689.2_Intron			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	2974					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			CCAATGAATGCTCGGGTGAAA	0.403																																						ENST00000564288.1																			0				breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203						c.(8905-8907)gCt>gTt		microtubule-actin crosslinking factor 1							58	60	59					1																	39801166		2203	4300	6503	SO:0001583	missense	23499				cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding	g.chr1:39801166C>T	AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"EF-hand domain containing"	13664	protein-coding gene	gene with protein product	"actin cross-linking factor", "620 kDa actin binding protein", "macrophin 1", "trabeculin-alpha", "actin cross-linking family protein 7"	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.8921C>T	1.37:g.39801166C>T	ENSP00000362006:p.Ala2974Val					MACF1_ENST00000476350.1_Intron|MACF1_ENST00000567887.1_Missense_Mutation_p.A3006V|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000372915.3_Missense_Mutation_p.A2974V|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000289893.4_Missense_Mutation_p.A1409V|MACF1_ENST00000545844.1_Intron	p.A2969V			Q9UPN3	MACF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)		37	9683	+	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	2974					B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Missense_Mutation	SNP	ENST00000372915.3	37	c.8906C>T		.	.	.	.	.	.	.	.	.	.	C	2.307	-0.358870	0.05138	.	.	ENSG00000127603	ENST00000372915;ENST00000289893	T;T	0.60424	0.19;1.33	5.2	0.965	0.19661	.	0.924364	0.09016	N	0.860822	T	0.26412	0.0645	N	0.03608	-0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.24693	-1.0153	10	0.02654	T	1	.	6.414	0.21705	0.0:0.5171:0.0:0.4829	.	2974	Q9UPN3	MACF1_HUMAN	V	2974;1409	ENSP00000362006:A2974V;ENSP00000289893:A1409V	ENSP00000289893:A1409V	A	+	2	0	MACF1	39573753	0.000000	0.05858	0.000000	0.03702	0.014000	0.08584	0.280000	0.18790	0.225000	0.20959	0.467000	0.42956	GCT		0.403	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1	NM_033044		27	31	0	0	0	1	0	27	31					T	39801166	C	T	39801166	3	4	435	1	0	0	0	0	1	0	0	0	9144	797	28	3	8997	3	MACF1	1	39801166	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	1511755	39801166	209449455	267	21192											
MACF1	23499	broad.mit.edu	37	chr1	39827169	39827169	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcagaggtgagccagcggttCgaacagctctgtctacagca	10	7	13	11	2	2	2	0	1	2	1	3	3	2	2	1	2	6	4	1	2	2	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:39827169C>T	ENST00000372915.3	+	48	12693	c.12606C>T	c.(12604-12606)ttC>ttT	p.F4202F	MACF1_ENST00000564288.1_Silent_p.F4197F|MACF1_ENST00000289893.4_Silent_p.F2637F|MACF1_ENST00000539005.1_Silent_p.F2135F|MACF1_ENST00000476350.1_3'UTR|MACF1_ENST00000545844.1_Silent_p.F2135F|MACF1_ENST00000567887.1_Silent_p.F4234F|MACF1_ENST00000317713.7_Silent_p.F2135F|MACF1_ENST00000361689.2_Silent_p.F2135F			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	4202					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			GCCAGCGGTTCGAACAGCTCT	0.547																																						ENST00000564288.1																			0				breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203						c.(12589-12591)ttC>ttT		microtubule-actin crosslinking factor 1							82	81	81					1																	39827169		2203	4300	6503	SO:0001819	synonymous_variant	23499				cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding	g.chr1:39827169C>T	AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"EF-hand domain containing"	13664	protein-coding gene	gene with protein product	"actin cross-linking factor", "620 kDa actin binding protein", "macrophin 1", "trabeculin-alpha", "actin cross-linking family protein 7"	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.12606C>T	1.37:g.39827169C>T						MACF1_ENST00000476350.1_3'UTR|MACF1_ENST00000567887.1_Silent_p.F4234F|MACF1_ENST00000539005.1_Silent_p.F2135F|MACF1_ENST00000372915.3_Silent_p.F4202F|MACF1_ENST00000361689.2_Silent_p.F2135F|MACF1_ENST00000317713.7_Silent_p.F2135F|MACF1_ENST00000289893.4_Silent_p.F2637F|MACF1_ENST00000545844.1_Silent_p.F2135F	p.F4197F			Q9UPN3	MACF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)		49	13368	+	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	4202					B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Silent	SNP	ENST00000372915.3	37	c.12591C>T		.	.	.	.	.	.	.	.	.	.	C	4.553	0.102623	0.08731	.	.	ENSG00000127603	ENST00000372925	.	.	.	6.04	-3.78	0.04333	.	.	.	.	.	.	.	.	.	.	.	0.50632	D	0.999882	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.3667	0.74529	0.0:0.315:0.0:0.685	.	.	.	.	X	1269	.	.	R	+	1	2	MACF1	39599756	0.000000	0.05858	0.004000	0.12327	0.638000	0.38207	-1.288000	0.02783	-0.741000	0.04797	0.563000	0.77884	CGA		0.547	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1	NM_033044		21	32	0	0	0	1	0	21	32					T	39827169	C	T	39827169	2	4	435	1	0	0	0	0	0	0	0	1	9144	883	31	2		2	MACF1	1	39827169	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	26003	39827169	209423452	268	21193											
MACF1	23499	broad.mit.edu	37	chr1	39845971	39845971	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	aattcaaaaagtaaaggaagCcctggctggattactggtga	15	9	11	6	0	1	1	1	1	0	0	1	3	1	3	1	4	2	2	1	4	7	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:39845971C>T	ENST00000372915.3	+	54	13676	c.13589C>T	c.(13588-13590)gCc>gTc	p.A4530V	MACF1_ENST00000289893.4_Missense_Mutation_p.A2965V|MACF1_ENST00000545844.1_Missense_Mutation_p.A2463V|MACF1_ENST00000539005.1_Missense_Mutation_p.A2442V|MACF1_ENST00000567887.1_Missense_Mutation_p.A4562V|MACF1_ENST00000361689.2_Missense_Mutation_p.A2463V|MACF1_ENST00000317713.7_Missense_Mutation_p.A2463V|MACF1_ENST00000564288.1_Missense_Mutation_p.A4525V			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	4530					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			GTAAAGGAAGCCCTGGCTGGA	0.418																																						ENST00000564288.1																			0				breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203						c.(13573-13575)gCc>gTc		microtubule-actin crosslinking factor 1							61	65	64					1																	39845971		2203	4300	6503	SO:0001583	missense	23499				cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding	g.chr1:39845971C>T	AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"EF-hand domain containing"	13664	protein-coding gene	gene with protein product	"actin cross-linking factor", "620 kDa actin binding protein", "macrophin 1", "trabeculin-alpha", "actin cross-linking family protein 7"	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.13589C>T	1.37:g.39845971C>T	ENSP00000362006:p.Ala4530Val					MACF1_ENST00000567887.1_Missense_Mutation_p.A4562V|MACF1_ENST00000539005.1_Missense_Mutation_p.A2442V|MACF1_ENST00000372915.3_Missense_Mutation_p.A4530V|MACF1_ENST00000361689.2_Missense_Mutation_p.A2463V|MACF1_ENST00000317713.7_Missense_Mutation_p.A2463V|MACF1_ENST00000289893.4_Missense_Mutation_p.A2965V|MACF1_ENST00000545844.1_Missense_Mutation_p.A2463V	p.A4525V			Q9UPN3	MACF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)		55	14351	+	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	4530					B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Missense_Mutation	SNP	ENST00000372915.3	37	c.13574C>T		.	.	.	.	.	.	.	.	.	.	C	26.1	4.702398	0.88924	.	.	ENSG00000127603	ENST00000545844;ENST00000372915;ENST00000361689;ENST00000317713;ENST00000539005;ENST00000289893	T;T;T;T;T;T	0.54479	0.57;0.57;0.57;0.57;0.57;0.57	5.88	5.88	0.94601	.	0.000000	0.64402	D	0.000012	T	0.66327	0.2778	L	0.51422	1.61	0.80722	D	1	D;P;B	0.56035	0.974;0.723;0.094	P;P;B	0.60012	0.867;0.458;0.084	T	0.60250	-0.7300	10	0.36615	T	0.2	.	20.2954	0.98549	0.0:1.0:0.0:0.0	.	4530;2463;2407	Q9UPN3;F8W8Q1;Q9UPN3-3	MACF1_HUMAN;.;.	V	2463;4530;2463;2463;2442;2965	ENSP00000439537:A2463V;ENSP00000362006:A4530V;ENSP00000354573:A2463V;ENSP00000313438:A2463V;ENSP00000444364:A2442V;ENSP00000289893:A2965V	ENSP00000289893:A2965V	A	+	2	0	MACF1	39618558	0.978000	0.34361	1.000000	0.80357	0.924000	0.55760	2.287000	0.43505	2.805000	0.96524	0.460000	0.39030	GCC		0.418	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1	NM_033044		4	57	0	0	0	1	0	4	57					T	39845971	C	T	39845971	3	4	435	1	0	0	0	0	1	0	0	0	9144	739	26	3	13737	3	MACF1	1	39845971	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	18802	39845971	209404650	269	21194											
MACF1	23499	broad.mit.edu	37	chr1	39847733	39847733	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcagaatcccagctccggcCgtggctgatggagaaagaac	11	6	13	11	2	0	4	0	1	0	3	2	5	2	4	3	3	3	3	3	3	3	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:39847733C>T	ENST00000372915.3	+	55	13859	c.13772C>T	c.(13771-13773)cCg>cTg	p.P4591L	MACF1_ENST00000289893.4_Missense_Mutation_p.P3026L|MACF1_ENST00000545844.1_Missense_Mutation_p.P2524L|MACF1_ENST00000539005.1_Missense_Mutation_p.P2503L|MACF1_ENST00000567887.1_Missense_Mutation_p.P4623L|MACF1_ENST00000361689.2_Missense_Mutation_p.P2524L|MACF1_ENST00000317713.7_Missense_Mutation_p.P2524L|MACF1_ENST00000564288.1_Missense_Mutation_p.P4586L			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	4591					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			CAGCTCCGGCCGTGGCTGATG	0.552																																						ENST00000564288.1																			0				breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203						c.(13756-13758)cCg>cTg		microtubule-actin crosslinking factor 1							57	60	59					1																	39847733		2203	4300	6503	SO:0001583	missense	23499				cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding	g.chr1:39847733C>T	AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"EF-hand domain containing"	13664	protein-coding gene	gene with protein product	"actin cross-linking factor", "620 kDa actin binding protein", "macrophin 1", "trabeculin-alpha", "actin cross-linking family protein 7"	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.13772C>T	1.37:g.39847733C>T	ENSP00000362006:p.Pro4591Leu					MACF1_ENST00000567887.1_Missense_Mutation_p.P4623L|MACF1_ENST00000539005.1_Missense_Mutation_p.P2503L|MACF1_ENST00000372915.3_Missense_Mutation_p.P4591L|MACF1_ENST00000361689.2_Missense_Mutation_p.P2524L|MACF1_ENST00000317713.7_Missense_Mutation_p.P2524L|MACF1_ENST00000289893.4_Missense_Mutation_p.P3026L|MACF1_ENST00000545844.1_Missense_Mutation_p.P2524L	p.P4586L			Q9UPN3	MACF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)		56	14534	+	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	4591					B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Missense_Mutation	SNP	ENST00000372915.3	37	c.13757C>T		.	.	.	.	.	.	.	.	.	.	C	23.4	4.410985	0.83340	.	.	ENSG00000127603	ENST00000545844;ENST00000372915;ENST00000361689;ENST00000317713;ENST00000539005;ENST00000289893	T;T;T;T;T;T	0.33438	1.41;1.41;1.41;1.41;1.41;1.41	5.95	5.95	0.96441	.	0.000000	0.56097	D	0.000021	T	0.54727	0.1876	L	0.59436	1.845	0.80722	D	1	D;D;D	0.89917	1.0;0.994;0.993	D;D;P	0.91635	0.999;0.922;0.707	T	0.39251	-0.9623	10	0.37606	T	0.19	.	20.3812	0.98933	0.0:1.0:0.0:0.0	.	4591;2524;2468	Q9UPN3;F8W8Q1;Q9UPN3-3	MACF1_HUMAN;.;.	L	2524;4591;2524;2524;2503;3026	ENSP00000439537:P2524L;ENSP00000362006:P4591L;ENSP00000354573:P2524L;ENSP00000313438:P2524L;ENSP00000444364:P2503L;ENSP00000289893:P3026L	ENSP00000289893:P3026L	P	+	2	0	MACF1	39620320	0.998000	0.40836	1.000000	0.80357	0.928000	0.56348	3.794000	0.55492	2.821000	0.97095	0.650000	0.86243	CCG		0.552	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1	NM_033044		21	23	0	0	0	1	0	21	23					T	39847733	C	T	39847733	3	4	435	1	0	0	0	0	1	0	0	0	9144	652	23	2	13924	2	MACF1	1	39847733	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	1762	39847733	209402888	270	21195											
MACF1	23499	broad.mit.edu	37	chr1	39853218	39853218	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aatccaggctcaaggattgtAtgcagaaagctcagaaatat	16	9	9	7	0	2	2	2	0	0	2	3	3	3	3	1	2	2	4	1	2	6	3	rs617401		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:39853218A>G	ENST00000372915.3	+	57	14806	c.14719A>G	c.(14719-14721)Atg>Gtg	p.M4907V	MACF1_ENST00000564288.1_Missense_Mutation_p.M4902V|MACF1_ENST00000289893.4_Missense_Mutation_p.M3342V|MACF1_ENST00000539005.1_Missense_Mutation_p.M2819V|MACF1_ENST00000545844.1_Missense_Mutation_p.M2840V|MACF1_ENST00000567887.1_Missense_Mutation_p.M4939V|MACF1_ENST00000317713.7_Missense_Mutation_p.M2840V|MACF1_ENST00000361689.2_Missense_Mutation_p.M2840V			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	4907					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			CAAGGATTGTATGCAGAAAGC	0.428																																						ENST00000564288.1																			0				breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203						c.(14704-14706)Atg>Gtg		microtubule-actin crosslinking factor 1							68	69	68					1																	39853218		2203	4300	6503	SO:0001583	missense	23499				cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding	g.chr1:39853218A>G	AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"EF-hand domain containing"	13664	protein-coding gene	gene with protein product	"actin cross-linking factor", "620 kDa actin binding protein", "macrophin 1", "trabeculin-alpha", "actin cross-linking family protein 7"	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.14719A>G	1.37:g.39853218A>G	ENSP00000362006:p.Met4907Val					MACF1_ENST00000567887.1_Missense_Mutation_p.M4939V|MACF1_ENST00000539005.1_Missense_Mutation_p.M2819V|MACF1_ENST00000372915.3_Missense_Mutation_p.M4907V|MACF1_ENST00000361689.2_Missense_Mutation_p.M2840V|MACF1_ENST00000317713.7_Missense_Mutation_p.M2840V|MACF1_ENST00000289893.4_Missense_Mutation_p.M3342V|MACF1_ENST00000545844.1_Missense_Mutation_p.M2840V	p.M4902V			Q9UPN3	MACF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)		58	15481	+	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	4907					B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Missense_Mutation	SNP	ENST00000372915.3	37	c.14704A>G		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	10.02|10.02	1.235304|1.235304	0.22626|0.22626	.|.	.|.	ENSG00000127603|ENSG00000127603	ENST00000545844;ENST00000372915;ENST00000361689;ENST00000317713;ENST00000539005;ENST00000289893|ENST00000372925	T;T;T;T;T;T|.	0.32753|.	1.44;1.44;1.44;1.44;1.44;1.44|.	6.17|6.17	-2.98|-2.98	0.05513|0.05513	.|.	0.394164|.	0.24534|.	N|.	0.037689|.	T|T	0.44329|0.44329	0.1288|0.1288	L|L	0.29908|0.29908	0.895|0.895	0.80722|0.80722	D|D	1|1	B;B;B|.	0.17268|.	0.013;0.021;0.006|.	B;B;B|.	0.26517|.	0.07;0.01;0.007|.	T|T	0.32719|0.32719	-0.9896|-0.9896	10|5	0.54805|.	T|.	0.06|.	.|.	8.0944|8.0944	0.30820|0.30820	0.1918:0.2901:0.0:0.5182|0.1918:0.2901:0.0:0.5182	rs617401;rs617401|rs617401;rs617401	4907;2840;2784|.	Q9UPN3;F8W8Q1;Q9UPN3-3|.	MACF1_HUMAN;.;.|.	V|C	2840;4907;2840;2840;2819;3342|1952	ENSP00000439537:M2840V;ENSP00000362006:M4907V;ENSP00000354573:M2840V;ENSP00000313438:M2840V;ENSP00000444364:M2819V;ENSP00000289893:M3342V|.	ENSP00000289893:M3342V|.	M|Y	+|+	1|2	0|0	MACF1|MACF1	39625805|39625805	0.000000|0.000000	0.05858|0.05858	0.992000|0.992000	0.48379|0.48379	0.991000|0.991000	0.79684|0.79684	-0.154000|-0.154000	0.10130|0.10130	-0.067000|-0.067000	0.12976|0.12976	0.533000|0.533000	0.62120|0.62120	ATG|TAT		0.428	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1	NM_033044		27	42	0	0	0	1	0	27	42					G	39853218	A	G	39853218	3	3	435	1	0	0	0	0	1	0	0	0	9144	449	16	4	14879	4	MACF1	1	39853218	Missense_Mutation	SNP	A	TCGA-XK-AAIW-01A-11D-A41K-08	5485	39853218	209397403	271	21196											
MACF1	23499	broad.mit.edu	37	chr1	39927670	39927670	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cttcatcccaacaaggatgcGtatcgaccaacaaccgatgc	13	7	7	14	3	1	0	1	0	0	0	3	3	2	1	3	1	5	1	3	1	5	2	rs142801936	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:39927670G>A	ENST00000372915.3	+	92	21423	c.21336G>A	c.(21334-21336)gcG>gcA	p.A7112A	MACF1_ENST00000564288.1_Silent_p.A7213A|MACF1_ENST00000289893.4_Silent_p.A5656A|MACF1_ENST00000539005.1_Silent_p.A5024A|MACF1_ENST00000545844.1_Silent_p.A5154A|MACF1_ENST00000567887.1_Silent_p.A7250A|MACF1_ENST00000317713.7_Silent_p.A5154A|MACF1_ENST00000361689.2_Silent_p.A5154A			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	7112	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.				ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			ACAAGGATGCGTATCGACCAA	0.398																																						ENST00000564288.1																			0				breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203						c.(21637-21639)gcG>gcA		microtubule-actin crosslinking factor 1		G	,	2,4404	4.2+/-10.8	0,2,2201	158	146	150		15462,16968	2.7	1	1	dbSNP_134	150	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous,coding-synonymous	MACF1	NM_012090.4,NM_033044.3	,	0,4,6499	AA,AG,GG		0.0233,0.0454,0.0308	,	5154/5431,5656/5939	39927670	4,13002	2203	4300	6503	SO:0001819	synonymous_variant	23499				cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding	g.chr1:39927670G>A	AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"EF-hand domain containing"	13664	protein-coding gene	gene with protein product	"actin cross-linking factor", "620 kDa actin binding protein", "macrophin 1", "trabeculin-alpha", "actin cross-linking family protein 7"	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.21336G>A	1.37:g.39927670G>A						MACF1_ENST00000567887.1_Silent_p.A7250A|MACF1_ENST00000539005.1_Silent_p.A5024A|MACF1_ENST00000372915.3_Silent_p.A7112A|MACF1_ENST00000361689.2_Silent_p.A5154A|MACF1_ENST00000317713.7_Silent_p.A5154A|MACF1_ENST00000289893.4_Silent_p.A5656A|MACF1_ENST00000545844.1_Silent_p.A5154A	p.A7213A			Q9UPN3	MACF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)		93	22416	+	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	7112			C-terminal tail (By similarity).		B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Silent	SNP	ENST00000372915.3	37	c.21639G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	9.854|9.854	1.194472|1.194472	0.22037|0.22037	4.54E-4|4.54E-4	2.33E-4|2.33E-4	ENSG00000127603|ENSG00000127603	ENST00000360115;ENST00000442046|ENST00000372925;ENST00000446276	.|.	.|.	.|.	6.17|6.17	2.66|2.66	0.31614|0.31614	.|.	.|.	.|.	.|.	.|.	T|T	0.42944|0.42944	0.1225|0.1225	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.27054|0.27054	-1.0085|-1.0085	4|4	.|.	.|.	.|.	.|.	1.1111|1.1111	0.01704|0.01704	0.1316:0.2285:0.2827:0.3572|0.1316:0.2285:0.2827:0.3572	.|.	.|.	.|.	.|.	H|I	261;55|4158;136	.|.	.|.	R|V	+|+	2|1	0|0	MACF1|MACF1	39700257|39700257	0.826000|0.826000	0.29277|0.29277	1.000000|1.000000	0.80357|0.80357	0.937000|0.937000	0.57800|0.57800	-0.058000|-0.058000	0.11750|0.11750	0.217000|0.217000	0.20800|0.20800	-1.072000|-1.072000	0.02254|0.02254	CGT|GTA		0.398	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1	NM_033044		43	49	0	0	0	1	0	43	49					A	39927670	G	A	39927670	2	1	435	1	0	0	0	0	0	0	0	1	9144	1132	40	1		1	MACF1	1	39927670	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	74452	39927670	209322951	272	21197											
HPCAL4	51440	broad.mit.edu	37	chr1	40149676	40149676	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ccaggtcgtacatctcaaagGcccagttgagcttctgctcg	8	10	10	13	2	2	1	1	1	2	0	5	1	2	1	2	2	3	4	2	2	2	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:40149676G>T	ENST00000372844.3	-	3	702	c.311C>A	c.(310-312)gCc>gAc	p.A104D		NM_001282396.1|NM_001282397.1|NM_016257.2	NP_001269325.1|NP_001269326.1|NP_057341.1	Q9UM19	HPCL4_HUMAN	hippocalcin like 4	104	EF-hand 3. {ECO:0000255|PROSITE- ProRule:PRU00448}.				central nervous system development (GO:0007417)|signal transduction (GO:0007165)	intracellular (GO:0005622)	calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(1)|lung(5)|stomach(1)	8	all_cancers(7;4.65e-13)|Lung NSC(20;2.88e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.87e-18)|Epithelial(16;4.3e-17)|all cancers(16;8.48e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			CATCTCAAAGGCCCAGTTGAG	0.657																																						ENST00000372844.3																			0				breast(1)|central_nervous_system(1)|lung(5)|stomach(1)	8						c.(310-312)gCc>gAc		hippocalcin like 4							54	55	55					1																	40149676		2203	4300	6503	SO:0001583	missense	51440				central nervous system development	intracellular	calcium ion binding	g.chr1:40149676G>T	AB001105	CCDS441.1, CCDS72761.1	1p34.2	2013-01-10			ENSG00000116983	ENSG00000116983		"EF-hand domain containing"	18212	protein-coding gene	gene with protein product						10520747	Standard	NM_016257		Approved	HLP4, DKFZp761G122	uc001cdr.3	Q9UM19	OTTHUMG00000009246	ENST00000372844.3:c.311C>A	1.37:g.40149676G>T	ENSP00000361935:p.Ala104Asp						p.A104D	NM_016257.2	NP_057341.1	Q9UM19	HPCL4_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;1.87e-18)|Epithelial(16;4.3e-17)|all cancers(16;8.48e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)		3	702	-	all_cancers(7;4.65e-13)|Lung NSC(20;2.88e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	104			EF-hand 3.		B2R5U2|D3DPU1|Q5TG97|Q8N611	Missense_Mutation	SNP	ENST00000372844.3	37	c.311C>A	CCDS441.1	.	.	.	.	.	.	.	.	.	.	G	19.20	3.781789	0.70222	.	.	ENSG00000116983	ENST00000372844;ENST00000450300	T	0.42513	0.97	3.45	3.45	0.39498	EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	T	0.69655	0.3135	M	0.89658	3.05	0.80722	D	1	D	0.71674	0.998	D	0.74674	0.984	T	0.79269	-0.1873	10	0.87932	D	0	.	16.2222	0.82265	0.0:0.0:1.0:0.0	.	104	Q9UM19	HPCL4_HUMAN	D	104;96	ENSP00000361935:A104D	ENSP00000361935:A104D	A	-	2	0	HPCAL4	39922263	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.594000	0.98254	2.231000	0.72958	0.313000	0.20887	GCC		0.657	HPCAL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025640.1	NM_016257		8	22	1	0	0.000157383	1	0.000161063	8	22					T	40149676	G	T	40149676	3	4	435	1	0	0	0	0	1	0	0	0	7331	1203	42	5	272	5	HPCAL4	1	40149676	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	222006	40149676	209100945	273	21198											
PPIE	10450	broad.mit.edu	37	chr1	40209539	40209539	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aagaagttttctgggaagacGcttgaagagaataaagagga	17	8	13	3	1	1	5	0	1	1	4	1	8	1	7	0	2	0	2	0	2	7	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:40209539G>A	ENST00000324379.5	+	6	346	c.327G>A	c.(325-327)acG>acA	p.T109T	PPIE_ENST00000470213.1_Silent_p.T109T|PPIE_ENST00000372830.1_Silent_p.T109T|PPIE_ENST00000356511.2_Silent_p.T109T|PPIE_ENST00000480169.1_3'UTR	NM_006112.3	NP_006103.1	Q9UNP9	PPIE_HUMAN	peptidylprolyl isomerase E (cyclophilin E)	109					mRNA splicing, via spliceosome (GO:0000398)|positive regulation of viral genome replication (GO:0045070)|protein folding (GO:0006457)|regulation of transcription, DNA-templated (GO:0006355)	catalytic step 2 spliceosome (GO:0071013)|nucleus (GO:0005634)	cyclosporin A binding (GO:0016018)|nucleotide binding (GO:0000166)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			kidney(3)|large_intestine(2)|lung(2)|prostate(1)|urinary_tract(1)	9	all_cancers(7;1.63e-13)|all_lung(5;2.27e-16)|all_epithelial(6;1.35e-15)|Lung NSC(20;1.49e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.87e-18)|Epithelial(16;2.7e-17)|all cancers(16;5.5e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			CTGGGAAGACGCTTGAAGAGA	0.468																																						ENST00000324379.5																			0				kidney(3)|large_intestine(2)|lung(2)|prostate(1)|urinary_tract(1)	9						c.(325-327)acG>acA		peptidylprolyl isomerase E (cyclophilin E)							97	100	99					1																	40209539		2203	4300	6503	SO:0001819	synonymous_variant	10450				protein folding|regulation of transcription, DNA-dependent	catalytic step 2 spliceosome	cyclosporin A binding|nucleotide binding|peptidyl-prolyl cis-trans isomerase activity|protein binding|RNA binding	g.chr1:40209539G>A	AF042385	CCDS442.1, CCDS443.1, CCDS53299.1	1p32	2013-02-12			ENSG00000084072	ENSG00000084072		"RNA binding motif (RRM) containing"	9258	protein-coding gene	gene with protein product	"peptidyl-prolyl cis-trans isomerase E", "cyclophilin 33", "cyclophilin E", "PPIase E", "rotamase E", "peptidylprolyl isomerase E, isoform 1"	602435				9747881	Standard	NM_203456		Approved	CyP-33, MGC3736, MGC111222	uc001cdw.3	Q9UNP9	OTTHUMG00000009248	ENST00000324379.5:c.327G>A	1.37:g.40209539G>A						PPIE_ENST00000372830.1_Silent_p.T109T|PPIE_ENST00000470213.1_Silent_p.T109T|PPIE_ENST00000480169.1_3'UTR|PPIE_ENST00000356511.2_Silent_p.T109T	p.T109T	NM_006112.3	NP_006103.1	Q9UNP9	PPIE_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;1.87e-18)|Epithelial(16;2.7e-17)|all cancers(16;5.5e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)		6	346	+	all_cancers(7;1.63e-13)|all_lung(5;2.27e-16)|all_epithelial(6;1.35e-15)|Lung NSC(20;1.49e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	109					B2R971|O43634|O43635|Q32Q72|Q3S611|Q5TGA0|Q5TGA2|Q5TGA3|Q9UIZ5	Silent	SNP	ENST00000324379.5	37	c.327G>A	CCDS443.1																																																																																				0.468	PPIE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025642.2	NM_006112		9	7	0	0	0	1	0	9	7					A	40209539	G	A	40209539	2	1	435	1	0	0	0	0	0	0	0	1	12322	1074	38	1		1	PPIE	1	40209539	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	59863	40209539	209041082	274	21199											
RLF	6018	broad.mit.edu	37	chr1	40704481	40704481	+	Nonsense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gcttgcaaatataaggaatgTaataaacgcttcctgtgttc	13	13	8	7	1	0	0	0	0	0	0	2	1	1	1	1	1	2	5	1	1	7	7			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:40704481T>A	ENST00000372771.4	+	8	4134	c.4107T>A	c.(4105-4107)tgT>tgA	p.C1369*		NM_012421.3	NP_036553.2	Q13129	RLF_HUMAN	rearranged L-myc fusion	1369					chromosome organization (GO:0051276)|DNA integration (GO:0015074)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(18)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(4)|urinary_tract(2)	68	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;5.87e-19)|Epithelial(16;7.02e-16)|all cancers(16;1.69e-14)|Lung(16;0.0427)|LUSC - Lung squamous cell carcinoma(16;0.0461)			ATAAGGAATGTAATAAACGCT	0.363																																						ENST00000372771.4																			0				NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(18)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(4)|urinary_tract(2)	68						c.(4105-4107)tgT>tgA		rearranged L-myc fusion							85	89	88					1																	40704481		2203	4300	6503	SO:0001587	stop_gained	6018				chromosome organization|DNA integration|DNA mediated transformation|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding	g.chr1:40704481T>A		CCDS448.1	1p32	2010-05-07	2005-08-16		ENSG00000117000	ENSG00000117000		"Zinc fingers, C2H2-type"	10025	protein-coding gene	gene with protein product		180610	"rearranged L-myc fusion sequence"			1649386	Standard	NM_012421		Approved	ZNF292L, Zn-15L	uc001cfc.4	Q13129	OTTHUMG00000005763	ENST00000372771.4:c.4107T>A	1.37:g.40704481T>A	ENSP00000361857:p.Cys1369*						p.C1369*	NM_012421.3	NP_036553.2	Q13129	RLF_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;5.87e-19)|Epithelial(16;7.02e-16)|all cancers(16;1.69e-14)|Lung(16;0.0427)|LUSC - Lung squamous cell carcinoma(16;0.0461)		8	4134	+	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	1369					Q14CQ1|Q9NU60	Nonsense_Mutation	SNP	ENST00000372771.4	37	c.4107T>A	CCDS448.1	.	.	.	.	.	.	.	.	.	.	T	40	8.519639	0.98845	.	.	ENSG00000117000	ENST00000372771;ENST00000535839	.	.	.	5.91	4.79	0.61399	.	0.090504	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-10.5049	11.4297	0.50032	0.0:0.0696:0.0:0.9304	.	.	.	.	X	1369;1062	.	ENSP00000361857:C1369X	C	+	3	2	RLF	40477068	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	2.242000	0.43106	2.254000	0.74563	0.533000	0.62120	TGT		0.363	RLF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000015767.1	NM_012421		28	39	0	0	0	1	0	28	39					A	40704481	T	A	40704481	4	1	435	1	0	0	0	0	0	1	0	0	13389	1644	57	5	4137	5	RLF	1	40704481	Nonsense_Mutation	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	494942	40704481	208546140	275	21200											
ZNF642	339559	broad.mit.edu	37	chr1	40961711	40961711	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgaaatacacaggaggaacGccttccgaaataaggtgtaa	17	7	10	7	2	0	1	0	1	0	0	1	4	1	3	2	3	2	1	2	3	6	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:40961711G>A	ENST00000372706.1	+	6	2567	c.1561G>A	c.(1561-1563)Gcc>Acc	p.A521T	ZFP69_ENST00000372705.3_Missense_Mutation_p.A521T|RP11-656D10.3_ENST00000450713.1_RNA			Q49AA0	ZFP69_HUMAN	ZFP69 zinc finger protein	521					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)										CAGGAGGAACGCCTTCCGAAA	0.368																																						ENST00000372706.1																			0											c.(1561-1563)Gcc>Acc		ZFP69 zinc finger protein							55	58	57					1																	40961711		2193	4297	6490	SO:0001583	missense	339559							g.chr1:40961711G>A	AK122618	CCDS30686.1	1p34.2	2013-01-09	2012-11-27	2012-11-27	ENSG00000187815	ENSG00000187815		"Zinc fingers, C2H2-type", "-", "-", "-"	24708	protein-coding gene	gene with protein product	"ZFP69 zinc finger protein A"		"zinc finger protein 642"	ZNF642			Standard	XM_005270808		Approved	ZKSCAN23A, FLJ16030, ZFP69A, ZSCAN54A	uc001cfo.3	Q49AA0	OTTHUMG00000007303	ENST00000372706.1:c.1561G>A	1.37:g.40961711G>A	ENSP00000361791:p.Ala521Thr					RP11-656D10.3_ENST00000450713.1_RNA|ZFP69_ENST00000372705.3_Missense_Mutation_p.A521T	p.A521T							6	2567	+								Q5SWM5|Q6ZWK8	Missense_Mutation	SNP	ENST00000372706.1	37	c.1561G>A	CCDS30686.1	.	.	.	.	.	.	.	.	.	.	G	0.006	-2.060714	0.00386	.	.	ENSG00000187815	ENST00000372706;ENST00000372705	T;T	0.04654	3.58;3.58	4.51	-0.831	0.10789	.	0.593844	0.14091	N	0.341961	T	0.01695	0.0054	N	0.02842	-0.48	0.09310	N	1	B	0.12630	0.006	B	0.01281	0.0	T	0.43228	-0.9404	10	0.45353	T	0.12	0.4292	1.0158	0.01507	0.3546:0.1395:0.3484:0.1575	.	521	Q49AA0	ZN642_HUMAN	T	521	ENSP00000361791:A521T;ENSP00000361790:A521T	ENSP00000361790:A521T	A	+	1	0	ZNF642	40734298	0.001000	0.12720	0.005000	0.12908	0.359000	0.29487	0.032000	0.13732	-0.122000	0.11766	-0.995000	0.02519	GCC		0.368	ZFP69-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019082.1	NM_198494		17	39	0	0	0	1	0	17	39					A	40961711	G	A	40961711	3	1	435	1	0	0	0	0	1	0	0	0	18055	1087	38	1	1579	1	ZNF642	1	40961711	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	257230	40961711	208288910	276	21201											
NFYC	4802	broad.mit.edu	37	chr1	41223865	41223865	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgctggctcagcaacccaccGctgtccaagtccagggccag	8	5	11	17	2	1	0	1	0	0	0	3	0	3	0	5	2	2	4	5	2	2	0	rs139077351		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:41223865G>A	ENST00000308733.5	+	5	466	c.460G>A	c.(460-462)Gct>Act	p.A154T	MIR30C1_ENST00000385227.1_RNA|NFYC_ENST00000440226.3_Missense_Mutation_p.A154T|NFYC_ENST00000372652.1_Missense_Mutation_p.A154T|NFYC_ENST00000427410.2_Missense_Mutation_p.A116T|NFYC_ENST00000372654.1_Missense_Mutation_p.A154T|NFYC_ENST00000447388.3_Missense_Mutation_p.A154T|NFYC_ENST00000372651.1_Missense_Mutation_p.A154T|NFYC_ENST00000372653.1_Missense_Mutation_p.A154T|NFYC_ENST00000425457.2_Missense_Mutation_p.A154T|NFYC_ENST00000456393.2_Missense_Mutation_p.A154T			Q13952	NFYC_HUMAN	nuclear transcription factor Y, gamma	154					cellular lipid metabolic process (GO:0044255)|positive regulation of transcription, DNA-templated (GO:0045893)|protein folding (GO:0006457)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	CCAAT-binding factor complex (GO:0016602)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(3)|lung(1)|prostate(1)|skin(2)	15	Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.72e-17)			GCAACCCACCGCTGTCCAAGT	0.612																																						ENST00000372652.1																			0				NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(3)|lung(1)|prostate(1)|skin(2)	15						c.(460-462)Gct>Act		nuclear transcription factor Y, gamma		G	THR/ALA,THR/ALA,THR/ALA,THR/ALA,THR/ALA	0,4406		0,0,2203	54	47	49		460,460,346,460,460	5.6	1	1	dbSNP_134	49	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense,missense	NFYC	NM_001142587.1,NM_001142588.1,NM_001142589.1,NM_001142590.1,NM_014223.4	58,58,58,58,58	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging	154/335,154/355,116/298,154/302,154/336	41223865	1,13005	2203	4300	6503	SO:0001583	missense	4802				protein folding|regulation of transcription from RNA polymerase II promoter	CCAAT-binding factor complex	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chr1:41223865G>A	U78774	CCDS455.1, CCDS44120.1, CCDS44121.1, CCDS44122.1, CCDS44123.1	1p32	2008-11-11			ENSG00000066136	ENSG00000066136			7806	protein-coding gene	gene with protein product		605344				8921405, 9249075	Standard	NM_014223		Approved	CBF-C, NF-YC	uc009vwd.3	Q13952	OTTHUMG00000007729	ENST00000308733.5:c.460G>A	1.37:g.41223865G>A	ENSP00000312617:p.Ala154Thr					NFYC_ENST00000440226.3_Missense_Mutation_p.A154T|NFYC_ENST00000427410.2_Missense_Mutation_p.A116T|NFYC_ENST00000425457.2_Missense_Mutation_p.A154T|NFYC_ENST00000372651.1_Missense_Mutation_p.A154T|NFYC_ENST00000372653.1_Missense_Mutation_p.A154T|NFYC_ENST00000372654.1_Missense_Mutation_p.A154T|NFYC_ENST00000308733.5_Missense_Mutation_p.A154T|NFYC_ENST00000456393.2_Missense_Mutation_p.A154T|NFYC_ENST00000447388.3_Missense_Mutation_p.A154T	p.A154T			Q13952	NFYC_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;1.72e-17)		6	728	+	Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	154					B4DUS6|B4DW63|D3DPV9|F8VWM3|Q59GY4|Q5T6K8|Q5T6K9|Q5T6L1|Q5TZR6|Q92869|Q9HBX1|Q9NXB5|Q9UM67|Q9UML0|Q9UMT7	Missense_Mutation	SNP	ENST00000308733.5	37	c.460G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	24.6|24.6	4.549190|4.549190	0.86127|0.86127	0.0|0.0	1.16E-4|1.16E-4	ENSG00000066136|ENSG00000066136	ENST00000427410;ENST00000447388;ENST00000425457;ENST00000456393;ENST00000372658;ENST00000372655;ENST00000372654;ENST00000372653;ENST00000372669;ENST00000372652;ENST00000372651;ENST00000440226;ENST00000416859;ENST00000308733|ENST00000414185	T;T;T;T;T;T;T;T;T;T;T;T|.	0.64085|.	-0.08;-0.08;-0.08;-0.08;-0.08;1.38;-0.08;-0.08;-0.08;-0.08;1.38;-0.08|.	5.6|5.6	5.6|5.6	0.85130|0.85130	.|.	0.048670|.	0.85682|.	D|.	0.000000|.	T|T	0.72590|0.72590	0.3479|0.3479	M|M	0.62723|0.62723	1.935|1.935	0.80722|0.80722	D|D	1|1	B;B;P;B;P;B;B;D|.	0.89917|.	0.025;0.265;0.605;0.008;0.507;0.014;0.014;1.0|.	B;B;B;B;B;B;B;D|.	0.73708|.	0.005;0.03;0.033;0.002;0.051;0.005;0.005;0.981|.	T|T	0.70234|0.70234	-0.4928|-0.4928	10|5	0.51188|.	T|.	0.08|.	.|.	17.0961|17.0961	0.86635|0.86635	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	116;60;154;154;154;154;154;154|.	B4DW63;B4DVS8;Q13952;Q5T6K9;Q13952-3;F8VWM3;Q13952-2;B4DUS6|.	.;.;NFYC_HUMAN;.;.;.;.;.|.	T|H	116;154;154;154;52;52;154;154;154;154;154;154;122;154|36	ENSP00000408315:A116T;ENSP00000404427:A154T;ENSP00000396620:A154T;ENSP00000408867:A154T;ENSP00000361738:A154T;ENSP00000361737:A154T;ENSP00000361754:A154T;ENSP00000361736:A154T;ENSP00000361734:A154T;ENSP00000414299:A154T;ENSP00000409219:A122T;ENSP00000312617:A154T|.	ENSP00000312617:A154T|.	A|R	+|+	1|2	0|0	NFYC|NFYC	40996452|40996452	1.000000|1.000000	0.71417|0.71417	0.996000|0.996000	0.52242|0.52242	0.957000|0.957000	0.61999|0.61999	5.286000|5.286000	0.65639|0.65639	2.653000|2.653000	0.90120|0.90120	0.561000|0.561000	0.74099|0.74099	GCT|CGC		0.612	NFYC-007	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000020802.1	NM_014223		12	15	0	0	0	1	0	12	15					A	41223865	G	A	41223865	3	1	435	1	0	0	0	0	1	0	0	0	10391	1087	38	1	478	1	NFYC	1	41223865	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	262154	41223865	208026756	277	21202											
CTPS	1503	broad.mit.edu	37	chr1	41466749	41466749	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcacctcgcaagaagagcccGtgcgctaccacgaagcttgg	10	6	11	14	4	1	2	1	0	0	2	2	3	1	2	3	1	4	3	3	1	4	2	rs150289603		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:41466749G>A	ENST00000372621.4	+	10	1562	c.1054G>A	c.(1054-1056)Gtg>Atg	p.V352M	CTPS1_ENST00000541520.1_Missense_Mutation_p.V121M|CTPS1_ENST00000372616.1_Missense_Mutation_p.V352M	NM_001905.2	NP_001896.2			CTP synthase 1											endometrium(3)|lung(10)	13						AGAAGAGCCCGTGCGCTACCA	0.507																																						ENST00000372621.4																			0				endometrium(3)|lung(10)	13						c.(1054-1056)Gtg>Atg		CTP synthase 1	L-Glutamine(DB00130)	G	MET/VAL	0,4406		0,0,2203	71	66	68		1054	5.9	0.9	1	dbSNP_134	68	1,8599	1.2+/-3.3	0,1,4299	no	missense	CTPS	NM_001905.2	21	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging	352/592	41466749	1,13005	2203	4300	6503	SO:0001583	missense	1503				CTP biosynthetic process|glutamine metabolic process|nucleobase, nucleoside and nucleotide interconversion|response to drug	cytosol	ATP binding|CTP synthase activity|protein binding	g.chr1:41466749G>A	BC009408	CCDS459.1	1p34.1	2012-05-02	2012-05-02	2012-05-02	ENSG00000171793	ENSG00000171793	6.3.4.2		2519	protein-coding gene	gene with protein product		123860	"CTP synthase"	CTPS		1783378	Standard	XM_005270536		Approved		uc001cgk.4	P17812	OTTHUMG00000005712	ENST00000372621.4:c.1054G>A	1.37:g.41466749G>A	ENSP00000361704:p.Val352Met					CTPS1_ENST00000541520.1_Missense_Mutation_p.V121M|CTPS1_ENST00000372616.1_Missense_Mutation_p.V352M	p.V352M	NM_001905.2	NP_001896.2	P17812	PYRG1_HUMAN			10	1562	+			352			Glutamine amidotransferase type-1.			Missense_Mutation	SNP	ENST00000372621.4	37	c.1054G>A	CCDS459.1	.	.	.	.	.	.	.	.	.	.	G	15.38	2.815378	0.50527	0.0	1.16E-4	ENSG00000171793	ENST00000372621;ENST00000541520;ENST00000372616	T;T;T	0.45276	0.92;0.9;0.92	5.86	5.86	0.93980	Glutamine amidotransferase type 1 (2);	0.000000	0.85682	D	0.000000	T	0.68769	0.3037	M	0.86028	2.79	0.80722	D	1	D;D	0.76494	0.999;0.977	D;P	0.66716	0.946;0.649	T	0.70831	-0.4765	10	0.52906	T	0.07	.	18.7657	0.91871	0.0:0.0:1.0:0.0	.	121;352	B4DR64;P17812	.;PYRG1_HUMAN	M	352;121;352	ENSP00000361704:V352M;ENSP00000442646:V121M;ENSP00000361699:V352M	ENSP00000361699:V352M	V	+	1	0	CTPS	41239336	1.000000	0.71417	0.889000	0.34880	0.106000	0.19336	7.591000	0.82666	2.776000	0.95493	0.655000	0.94253	GTG		0.507	CTPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000015629.1	NM_001905		13	19	0	0	0	1	0	13	19					A	41466749	G	A	41466749	3	1	435	1	0	0	0	0	1	0	0	0	4022	1145	40	1	1088	1	CTPS	1	41466749	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	242884	41466749	207783872	278	21203											
SCMH1	22955	broad.mit.edu	37	chr1	41503052	41503052	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acccctggagcatagcctgcGcacagctgaggcagtgcttg	8	7	13	13	1	0	1	0	1	0	0	0	2	0	2	3	2	5	5	3	2	1	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:41503052G>A	ENST00000326197.7	-	12	1929	c.1630C>T	c.(1630-1632)Cgc>Tgc	p.R544C	SCMH1_ENST00000361705.3_Missense_Mutation_p.R497C|SCMH1_ENST00000361191.5_Missense_Mutation_p.R483C|SCMH1_ENST00000397171.2_Missense_Mutation_p.R483C|SCMH1_ENST00000402904.2_Missense_Mutation_p.R544C|SCMH1_ENST00000456518.2_Missense_Mutation_p.R386C|SCMH1_ENST00000372595.1_Missense_Mutation_p.R483C|SCMH1_ENST00000472037.1_5'UTR|SCMH1_ENST00000372596.1_Missense_Mutation_p.R483C|SCMH1_ENST00000372597.1_Missense_Mutation_p.R497C|SCMH1_ENST00000397174.2_Missense_Mutation_p.R524C|SCMH1_ENST00000337495.5_Missense_Mutation_p.R554C					sex comb on midleg homolog 1 (Drosophila)											breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(2)|pancreas(2)|upper_aerodigestive_tract(1)	15	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)|Breast(333;0.162)	Myeloproliferative disorder(586;0.0393)				CATAGCCTGCGCACAGCTGAG	0.597																																						ENST00000402904.2																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(2)|pancreas(2)|upper_aerodigestive_tract(1)	15						c.(1630-1632)Cgc>Tgc		sex comb on midleg homolog 1 (Drosophila)							143	127	132					1																	41503052		2203	4300	6503	SO:0001583	missense	22955				anatomical structure morphogenesis|gene silencing|multicellular organismal development|negative regulation of transcription, DNA-dependent		DNA binding|sequence-specific DNA binding transcription factor activity	g.chr1:41503052G>A	AF149045	CCDS461.1, CCDS30688.1, CCDS53301.1, CCDS53302.1, CCDS53303.1, CCDS53304.1	1p34	2013-01-10			ENSG00000010803	ENSG00000010803		"Sterile alpha motif (SAM) domain containing"	19003	protein-coding gene	gene with protein product						10524249	Standard	NM_012236		Approved	Scml3	uc001cgs.3	Q96GD3	OTTHUMG00000005720	ENST00000326197.7:c.1630C>T	1.37:g.41503052G>A	ENSP00000318094:p.Arg544Cys					SCMH1_ENST00000456518.2_Missense_Mutation_p.R386C|SCMH1_ENST00000472037.1_5'UTR|SCMH1_ENST00000397171.2_Missense_Mutation_p.R483C|SCMH1_ENST00000397174.2_Missense_Mutation_p.R524C|SCMH1_ENST00000372595.1_Missense_Mutation_p.R483C|SCMH1_ENST00000372596.1_Missense_Mutation_p.R483C|SCMH1_ENST00000372597.1_Missense_Mutation_p.R497C|SCMH1_ENST00000361705.3_Missense_Mutation_p.R497C|SCMH1_ENST00000361191.5_Missense_Mutation_p.R483C|SCMH1_ENST00000337495.5_Missense_Mutation_p.R554C|SCMH1_ENST00000326197.7_Missense_Mutation_p.R544C	p.R544C	NM_001031694.2	NP_001026864.1	Q96GD3	SCMH1_HUMAN			13	1998	-	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)|Breast(333;0.162)	Myeloproliferative disorder(586;0.0393)	544						Missense_Mutation	SNP	ENST00000326197.7	37	c.1630C>T	CCDS30688.1	.	.	.	.	.	.	.	.	.	.	G	15.70	2.911244	0.52439	.	.	ENSG00000010803	ENST00000361705;ENST00000456518;ENST00000402904;ENST00000397174;ENST00000397171;ENST00000361191;ENST00000372597;ENST00000372596;ENST00000337495;ENST00000372595;ENST00000326197	T;T;T;T;T;T;T;T;T;T;T	0.25579	2.12;1.79;2.15;2.12;2.13;2.13;2.12;2.13;2.12;2.14;2.15	4.18	4.18	0.49190	.	0.543585	0.18891	N	0.128314	T	0.21761	0.0524	N	0.24115	0.695	0.41386	D	0.987588	D;D;D;P	0.63880	0.978;0.993;0.987;0.624	B;P;P;B	0.47744	0.353;0.556;0.555;0.164	T	0.01108	-1.1449	10	0.56958	D	0.05	.	10.3369	0.43854	0.0:0.1997:0.8003:0.0	.	386;554;497;544	B4DRQ8;Q96GD3-2;Q96GD3-4;Q96GD3	.;.;.;SCMH1_HUMAN	C	497;386;544;524;483;483;497;483;554;483;544	ENSP00000354996:R497C;ENSP00000403974:R386C;ENSP00000386079:R544C;ENSP00000380359:R524C;ENSP00000380356:R483C;ENSP00000354656:R483C;ENSP00000361678:R497C;ENSP00000361677:R483C;ENSP00000337352:R554C;ENSP00000361676:R483C;ENSP00000318094:R544C	ENSP00000318094:R544C	R	-	1	0	SCMH1	41275639	0.998000	0.40836	1.000000	0.80357	0.733000	0.41908	3.065000	0.49994	2.605000	0.88082	0.563000	0.77884	CGC		0.597	SCMH1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000015656.1			18	39	0	0	0	1	0	18	39					A	41503052	G	A	41503052	3	1	435	1	0	0	0	0	1	0	0	0	13908	1087	38	1	368	1	SCMH1	1	41503052	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	36303	41503052	207747569	279	21204											
HIVEP3	59269	broad.mit.edu	37	chr1	42046505	42046505	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cggcatattggtctgaacacGgacaggcacaaccagggaca	13	5	12	11	2	1	1	0	1	1	0	1	3	1	3	1	5	2	2	1	5	3	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:42046505G>A	ENST00000372583.1	-	4	4849	c.3964C>T	c.(3964-3966)Cgt>Tgt	p.R1322C	HIVEP3_ENST00000460604.1_5'Flank|HIVEP3_ENST00000247584.5_Missense_Mutation_p.R1322C|HIVEP3_ENST00000429157.2_Missense_Mutation_p.R1322C|HIVEP3_ENST00000372584.1_Missense_Mutation_p.R1322C	NM_024503.4	NP_078779.2	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	1322					positive regulation of transcription, DNA-templated (GO:0045893)|skeletal muscle cell differentiation (GO:0035914)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				GTCTGAACACGGACAGGCACA	0.602																																						ENST00000372584.1																			0				NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85						c.(3964-3966)Cgt>Tgt		human immunodeficiency virus type I enhancer binding protein 3							79	77	78					1																	42046505		2203	4300	6503	SO:0001583	missense	59269				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding	g.chr1:42046505G>A	AF278765	CCDS463.1, CCDS44124.1	1p34	2013-01-08	2001-11-28		ENSG00000127124	ENSG00000127124		"Zinc fingers, C2H2-type"	13561	protein-coding gene	gene with protein product	"kappabinding protein-1"	606649	"human immunodeficiency virus type I enhancer-binding protein 3"			11161801	Standard	NR_038260		Approved	KRC, KBP1, KBP-1, SHN3, FLJ16752, KIAA1555, ZAS3, Schnurri-3, ZNF40C	uc001cha.4	Q5T1R4	OTTHUMG00000006361	ENST00000372583.1:c.3964C>T	1.37:g.42046505G>A	ENSP00000361664:p.Arg1322Cys					HIVEP3_ENST00000429157.2_Missense_Mutation_p.R1322C|HIVEP3_ENST00000372583.1_Missense_Mutation_p.R1322C|HIVEP3_ENST00000247584.5_Missense_Mutation_p.R1322C	p.R1322C	NM_001127714.2	NP_001121186.1	Q5T1R4	ZEP3_HUMAN			3	4978	-	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)	1322					A7YY91|Q5T1R5|Q9BZS0|Q9HCL7	Missense_Mutation	SNP	ENST00000372583.1	37	c.3964C>T	CCDS463.1	.	.	.	.	.	.	.	.	.	.	G	16.50	3.141621	0.57044	.	.	ENSG00000127124	ENST00000372584;ENST00000372583;ENST00000247584;ENST00000429157	T;T;T;T	0.20598	2.1;2.06;2.06;2.1	5.19	5.19	0.71726	.	0.000000	0.51477	D	0.000099	T	0.48187	0.1486	M	0.79693	2.465	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.50127	-0.8864	10	0.87932	D	0	-8.5151	13.456	0.61199	0.0:0.0:0.8433:0.1567	.	1322;1322	Q5T1R4-2;Q5T1R4	.;ZEP3_HUMAN	C	1322	ENSP00000361665:R1322C;ENSP00000361664:R1322C;ENSP00000247584:R1322C;ENSP00000410828:R1322C	ENSP00000247584:R1322C	R	-	1	0	HIVEP3	41819092	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	4.527000	0.60573	2.708000	0.92522	0.591000	0.81541	CGT		0.602	HIVEP3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000016978.1	NM_024503		13	26	0	0	0	1	0	13	26					A	42046505	G	A	42046505	3	1	435	1	0	0	0	0	1	0	0	0	7188	1116	39	2	3280	2	HIVEP3	1	42046505	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	543453	42046505	207204116	280	21205											
HIVEP3	59269	broad.mit.edu	37	chr1	42048551	42048551	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gttacattcgtagatcacccCttttgttttcaaacccttct	8	17	4	12	1	3	1	2	0	1	1	4	1	3	1	3	0	2	3	3	0	3	8			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:42048551C>A	ENST00000372583.1	-	4	2803	c.1918G>T	c.(1918-1920)Ggg>Tgg	p.G640W	HIVEP3_ENST00000460604.1_5'Flank|HIVEP3_ENST00000247584.5_Missense_Mutation_p.G640W|HIVEP3_ENST00000429157.2_Missense_Mutation_p.G640W|HIVEP3_ENST00000372584.1_Missense_Mutation_p.G640W	NM_024503.4	NP_078779.2	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	640	No DNA binding activity or transactivation activity, but complete prevention of TRAF-dependent NF-Kappa-B activation; associates with TRAF2 and JUN. {ECO:0000250}.				positive regulation of transcription, DNA-templated (GO:0045893)|skeletal muscle cell differentiation (GO:0035914)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				TAGATCACCCCTTTTGTTTTC	0.468																																						ENST00000372584.1																			0				NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85						c.(1918-1920)Ggg>Tgg		human immunodeficiency virus type I enhancer binding protein 3							138	137	137					1																	42048551		2203	4300	6503	SO:0001583	missense	59269				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding	g.chr1:42048551C>A	AF278765	CCDS463.1, CCDS44124.1	1p34	2013-01-08	2001-11-28		ENSG00000127124	ENSG00000127124		"Zinc fingers, C2H2-type"	13561	protein-coding gene	gene with protein product	"kappabinding protein-1"	606649	"human immunodeficiency virus type I enhancer-binding protein 3"			11161801	Standard	NR_038260		Approved	KRC, KBP1, KBP-1, SHN3, FLJ16752, KIAA1555, ZAS3, Schnurri-3, ZNF40C	uc001cha.4	Q5T1R4	OTTHUMG00000006361	ENST00000372583.1:c.1918G>T	1.37:g.42048551C>A	ENSP00000361664:p.Gly640Trp					HIVEP3_ENST00000429157.2_Missense_Mutation_p.G640W|HIVEP3_ENST00000372583.1_Missense_Mutation_p.G640W|HIVEP3_ENST00000247584.5_Missense_Mutation_p.G640W	p.G640W	NM_001127714.2	NP_001121186.1	Q5T1R4	ZEP3_HUMAN			3	2932	-	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)	640			No DNA binding activity or transactivation activity, but complete prevention of TRAF-dependent NF-Kappa-B activation; associates with TRAF2 and JUN (By similarity).		A7YY91|Q5T1R5|Q9BZS0|Q9HCL7	Missense_Mutation	SNP	ENST00000372583.1	37	c.1918G>T	CCDS463.1	.	.	.	.	.	.	.	.	.	.	C	15.54	2.862618	0.51482	.	.	ENSG00000127124	ENST00000372584;ENST00000372583;ENST00000247584;ENST00000429157	T;T;T;T	0.26223	1.75;1.75;1.75;1.75	4.47	4.47	0.54385	.	0.000000	0.53938	D	0.000058	T	0.50000	0.1590	M	0.69358	2.11	0.43408	D	0.995542	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.52638	-0.8549	10	0.56958	D	0.05	3.3037	16.914	0.86147	0.0:1.0:0.0:0.0	.	640;640	Q5T1R4-2;Q5T1R4	.;ZEP3_HUMAN	W	640	ENSP00000361665:G640W;ENSP00000361664:G640W;ENSP00000247584:G640W;ENSP00000410828:G640W	ENSP00000247584:G640W	G	-	1	0	HIVEP3	41821138	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.455000	0.60075	2.326000	0.78906	0.555000	0.69702	GGG		0.468	HIVEP3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000016978.1	NM_024503		7	208	1	0	1.26484e-09	1	1.34508e-09	7	208					A	42048551	C	A	42048551	3	1	435	1	0	0	0	0	1	0	0	0	7188	681	24	5	5326	5	HIVEP3	1	42048551	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	2046	42048551	207202070	281	21206											
RIMKLA	284716	broad.mit.edu	37	chr1	42880423	42880423	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gctgtcctcccaggactgtcGagtccaagggagaagaacga	11	6	13	11	2	0	2	0	0	0	2	4	6	3	3	3	2	1	1	3	2	3	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:42880423G>A	ENST00000431473.3	+	5	1083	c.954G>A	c.(952-954)tcG>tcA	p.S318S		NM_173642.3	NP_775913.2	Q8IXN7	RIMKA_HUMAN	ribosomal modification protein rimK-like family member A	318					cellular protein modification process (GO:0006464)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|N-acetyl-L-aspartate-L-glutamate ligase activity (GO:0072590)			NS(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	13						CAGGACTGTCGAGTCCAAGGG	0.522																																						ENST00000431473.3																			0				NS(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	13						c.(952-954)tcG>tcA		ribosomal modification protein rimK-like family member A							103	93	97					1																	42880423		2203	4300	6503	SO:0001819	synonymous_variant	284716				protein modification process	cytoplasm	acid-amino acid ligase activity|ATP binding|metal ion binding	g.chr1:42880423G>A	BC039737	CCDS466.2	1p34.2	2011-09-21	2008-10-13	2008-10-13	ENSG00000177181	ENSG00000177181	6.3.2.N6		28725	protein-coding gene	gene with protein product	"N-acetylaspartylglutamate synthetase II"		"family with sequence similarity 80, member A"	FAM80A		20657015, 21454531	Standard	NM_173642		Approved	MGC47816, RP11-157D18.1, NAAGS-II	uc001chi.2	Q8IXN7	OTTHUMG00000007335	ENST00000431473.3:c.954G>A	1.37:g.42880423G>A							p.S318S	NM_173642.3	NP_775913.2	Q8IXN7	RIMKA_HUMAN			5	1083	+			318					Q5VUS5	Silent	SNP	ENST00000431473.3	37	c.954G>A	CCDS466.2																																																																																				0.522	RIMKLA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019174.3	NM_173642		21	28	0	0	0	1	0	21	28					A	42880423	G	A	42880423	2	1	435	1	0	0	0	0	0	0	0	1	13365	1045	37	2		2	RIMKLA	1	42880423	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	831872	42880423	206370198	282	21207											
ZMYND12	84217	broad.mit.edu	37	chr1	42915624	42915624	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgctgcaggccatgctgccGttcttcctctgaattgtaga	6	13	10	12	1	2	2	0	1	2	1	3	2	3	2	3	1	4	5	3	1	2	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:42915624G>A	ENST00000372565.3	-	2	486	c.217C>T	c.(217-219)Cgg>Tgg	p.R73W	ZMYND12_ENST00000433602.2_Missense_Mutation_p.T20M	NM_032257.4	NP_115633.3	Q9H0C1	ZMY12_HUMAN	zinc finger, MYND-type containing 12	73						intracellular (GO:0005622)	metal ion binding (GO:0046872)			NS(1)|endometrium(2)|large_intestine(3)|lung(5)|ovary(2)|prostate(2)|skin(2)	17	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				CCATGCTGCCGTTCTTCCTCT	0.547																																						ENST00000372565.3																			0				NS(1)|endometrium(2)|large_intestine(3)|lung(5)|ovary(2)|prostate(2)|skin(2)	17						c.(217-219)Cgg>Tgg		zinc finger, MYND-type containing 12							92	81	85					1																	42915624		2203	4300	6503	SO:0001583	missense	84217					intracellular	zinc ion binding	g.chr1:42915624G>A	AK057384	CCDS467.1	1p34.1	2008-02-05			ENSG00000066185	ENSG00000066185		"Zinc fingers, MYND-type"	21192	protein-coding gene	gene with protein product						11230166	Standard	NM_032257		Approved	DKFZp434N2435	uc001chj.3	Q9H0C1	OTTHUMG00000007333	ENST00000372565.3:c.217C>T	1.37:g.42915624G>A	ENSP00000361646:p.Arg73Trp					ZMYND12_ENST00000433602.2_Missense_Mutation_p.T20M	p.R73W	NM_032257.4	NP_115633.3	Q9H0C1	ZMY12_HUMAN			2	486	-	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)	73					Q5VUS6|Q8TC87|Q96M51	Missense_Mutation	SNP	ENST00000372565.3	37	c.217C>T	CCDS467.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.71|13.71	2.317907|2.317907	0.40996|0.40996	.|.	.|.	ENSG00000066185|ENSG00000066185	ENST00000372565|ENST00000433602	T|T	0.55760|0.45276	0.5|0.9	5.47|5.47	3.28|3.28	0.37604|0.37604	.|.	0.230857|.	0.43110|.	D|.	0.000614|.	T|T	0.55577|0.55577	0.1929|0.1929	M|M	0.83953|0.83953	2.67|2.67	0.23396|0.23396	N|N	0.997769|0.997769	D|P	0.89917|0.52577	1.0|0.954	D|P	0.87578|0.50896	0.998|0.653	T|T	0.50110|0.50110	-0.8866|-0.8866	10|9	0.87932|0.54805	D|T	0|0.06	-17.2609|-17.2609	11.2402|11.2402	0.48964|0.48964	0.0:0.0:0.4306:0.5693|0.0:0.0:0.4306:0.5693	.|.	73|20	Q9H0C1|E9PFV0	ZMY12_HUMAN|.	W|M	73|20	ENSP00000361646:R73W|ENSP00000398340:T20M	ENSP00000361646:R73W|ENSP00000398340:T20M	R|T	-|-	1|2	2|0	ZMYND12|ZMYND12	42688211|42688211	0.986000|0.986000	0.35501|0.35501	0.979000|0.979000	0.43373|0.43373	0.975000|0.975000	0.68041|0.68041	2.020000|2.020000	0.41010|0.41010	1.094000|1.094000	0.41399|0.41399	0.313000|0.313000	0.20887|0.20887	CGG|ACG		0.547	ZMYND12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019170.1	NM_032257		25	35	0	0	0	1	0	25	35					A	42915624	G	A	42915624	3	1	435	1	0	0	0	0	1	0	0	0	17704	1145	40	1	908	1	ZMYND12	1	42915624	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	35201	42915624	206334997	283	21208											
PPCS	79717	broad.mit.edu	37	chr1	42922450	42922450	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gcggtgcaacctcggccgagGccttcctagccgccggctac	5	6	13	17	5	0	0	0	0	0	0	2	1	1	0	6	4	4	2	6	4	3	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:42922450G>A	ENST00000372561.3	+	1	221	c.214G>A	c.(214-216)Gcc>Acc	p.A72T	PPCS_ENST00000372562.1_Intron|ZMYND12_ENST00000372565.3_5'Flank|PPCS_ENST00000372560.3_Missense_Mutation_p.A72T|PPCS_ENST00000455780.1_Intron|ZMYND12_ENST00000433602.2_5'Flank|PPCS_ENST00000372556.3_Intron|PPCS_ENST00000472013.1_3'UTR	NM_024664.2	NP_078940.2	Q9HAB8	PPCS_HUMAN	phosphopantothenoylcysteine synthetase	72					coenzyme A biosynthetic process (GO:0015937)|coenzyme biosynthetic process (GO:0009108)|pantothenate metabolic process (GO:0015939)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	phosphopantothenate--cysteine ligase activity (GO:0004632)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|skin(3)	12	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				CTCGGCCGAGGCCTTCCTAGC	0.672																																						ENST00000372561.3																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|skin(3)	12						c.(214-216)Gcc>Acc		phosphopantothenoylcysteine synthetase							59	67	64					1																	42922450		1864	4045	5909	SO:0001583	missense	79717				coenzyme biosynthetic process|pantothenate metabolic process	cytosol	phosphopantothenate--cysteine ligase activity	g.chr1:42922450G>A	AK021900	CCDS41311.1, CCDS41312.1	1p34.2	2008-02-05			ENSG00000127125	ENSG00000127125	6.3.2.5		25686	protein-coding gene	gene with protein product		609853				11923312	Standard	NM_024664		Approved	FLJ11838	uc001chl.3	Q9HAB8	OTTHUMG00000007332	ENST00000372561.3:c.214G>A	1.37:g.42922450G>A	ENSP00000361642:p.Ala72Thr					PPCS_ENST00000372556.3_Intron|PPCS_ENST00000455780.1_Intron|PPCS_ENST00000372560.3_Missense_Mutation_p.A72T|PPCS_ENST00000472013.1_3'UTR|PPCS_ENST00000372562.1_Intron	p.A72T	NM_024664.2	NP_078940.2	Q9HAB8	PPCS_HUMAN			1	221	+	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)	72					Q3KQT2|Q5VVM0	Missense_Mutation	SNP	ENST00000372561.3	37	c.214G>A	CCDS41311.1	.	.	.	.	.	.	.	.	.	.	G	16.08	3.020680	0.54576	.	.	ENSG00000127125	ENST00000372560;ENST00000372561	.	.	.	5.83	4.74	0.60224	DNA/pantothenate metabolism flavoprotein, C-terminal (3);	0.484322	0.25625	N	0.029382	T	0.46268	0.1384	L	0.42008	1.315	0.80722	D	1	B	0.20164	0.042	B	0.25506	0.061	T	0.36407	-0.9749	9	0.27785	T	0.31	-1.0227	7.6397	0.28286	0.0928:0.0:0.7398:0.1674	.	72	Q9HAB8	PPCS_HUMAN	T	72	.	ENSP00000361641:A72T	A	+	1	0	PPCS	42695037	1.000000	0.71417	1.000000	0.80357	0.626000	0.37791	1.813000	0.38962	2.764000	0.94973	0.557000	0.71058	GCC		0.672	PPCS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019166.1	NM_024664		49	73	0	0	0	1	0	49	73					A	42922450	G	A	42922450	3	1	435	1	0	0	0	0	1	0	0	0	12305	1203	42	3	216	3	PPCS	1	42922450	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	6826	42922450	206328171	284	21209											
CCDC30	728621	broad.mit.edu	37	chr1	43047172	43047172	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taaagcaacaatatcaagaaGaacaacagaagaggtaagag	23	4	9	5	0	1	5	1	0	0	5	1	5	1	5	0	1	4	2	0	1	11	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:43047172G>T	ENST00000340612.4	+	7	1207	c.1207G>T	c.(1207-1209)Gaa>Taa	p.E403*	CCDC30_ENST00000390640.4_Nonsense_Mutation_p.E192*|CCDC30_ENST00000342022.4_Nonsense_Mutation_p.E403*|CCDC30_ENST00000428554.2_Nonsense_Mutation_p.E403*|CCDC30_ENST00000507855.1_Nonsense_Mutation_p.E192*			Q5VVM6	CCD30_HUMAN	coiled-coil domain containing 30	403						extracellular vesicular exosome (GO:0070062)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(2)	30						ATATCAAGAAGAACAACAGAA	0.373																																						ENST00000428554.2																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(2)	30						c.(1207-1209)Gaa>Taa		coiled-coil domain containing 30							89	84	86					1																	43047172		2203	4300	6503	SO:0001587	stop_gained	728621							g.chr1:43047172G>T	AY639646	CCDS30690.1	1p34.2	2009-07-09			ENSG00000186409	ENSG00000186409			26103	protein-coding gene	gene with protein product	"prefoldin 6-like"					16710767	Standard	NM_001080850		Approved	FLJ20972, PFD6L, LOC728621	uc009vwk.1	Q5VVM6	OTTHUMG00000007334	ENST00000340612.4:c.1207G>T	1.37:g.43047172G>T	ENSP00000340378:p.Glu403*					CCDC30_ENST00000342022.4_Nonsense_Mutation_p.E403*|CCDC30_ENST00000390640.4_Nonsense_Mutation_p.E192*|CCDC30_ENST00000507855.1_Nonsense_Mutation_p.E192*|CCDC30_ENST00000340612.4_Nonsense_Mutation_p.E403*	p.E403*			Q5VVM6	CCD30_HUMAN			15	2350	+			403					Q14F06|Q5VVM5	Nonsense_Mutation	SNP	ENST00000340612.4	37	c.1207G>T	CCDS30690.1	.	.	.	.	.	.	.	.	.	.	G	29.8	5.040923	0.93685	.	.	ENSG00000186409	ENST00000428554;ENST00000507855;ENST00000340612;ENST00000342022;ENST00000390640	.	.	.	5.39	4.48	0.54585	.	0.165981	0.53938	D	0.000043	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.39692	T	0.17	.	12.067	0.53594	0.0837:0.0:0.9163:0.0	.	.	.	.	X	403;192;403;403;192	.	ENSP00000340378:E403X	E	+	1	0	CCDC30	42819759	1.000000	0.71417	0.936000	0.37596	0.958000	0.62258	5.703000	0.68340	1.409000	0.46915	0.650000	0.86243	GAA		0.373	CCDC30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019524.3	NM_025030		15	23	1	0	2.32078e-09	1	2.46314e-09	15	23					T	43047172	G	T	43047172	4	4	435	1	0	0	0	0	0	1	0	0	2805	943	33	5	1233	5	CCDC30	1	43047172	Nonsense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	124722	43047172	206203449	285	21210											
CCDC30	728621	broad.mit.edu	37	chr1	43076730	43076730	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctctacgtgaagaatatttgCgattattgaagctgcttaat	12	15	8	6	2	1	3	0	2	1	1	1	4	1	3	0	0	4	2	0	0	7	6			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:43076730C>T	ENST00000340612.4	+	9	1465	c.1465C>T	c.(1465-1467)Cga>Tga	p.R489*	CCDC30_ENST00000390640.4_Nonsense_Mutation_p.R278*|CCDC30_ENST00000342022.4_Nonsense_Mutation_p.R489*|CCDC30_ENST00000428554.2_Nonsense_Mutation_p.R489*|CCDC30_ENST00000507855.1_Nonsense_Mutation_p.R278*			Q5VVM6	CCD30_HUMAN	coiled-coil domain containing 30	489						extracellular vesicular exosome (GO:0070062)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(2)	30						AGAATATTTGCGATTATTGAA	0.373																																						ENST00000428554.2																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(2)	30						c.(1465-1467)Cga>Tga		coiled-coil domain containing 30							121	112	115					1																	43076730		2203	4300	6503	SO:0001587	stop_gained	728621							g.chr1:43076730C>T	AY639646	CCDS30690.1	1p34.2	2009-07-09			ENSG00000186409	ENSG00000186409			26103	protein-coding gene	gene with protein product	"prefoldin 6-like"					16710767	Standard	NM_001080850		Approved	FLJ20972, PFD6L, LOC728621	uc009vwk.1	Q5VVM6	OTTHUMG00000007334	ENST00000340612.4:c.1465C>T	1.37:g.43076730C>T	ENSP00000340378:p.Arg489*					CCDC30_ENST00000342022.4_Nonsense_Mutation_p.R489*|CCDC30_ENST00000390640.4_Nonsense_Mutation_p.R278*|CCDC30_ENST00000507855.1_Nonsense_Mutation_p.R278*|CCDC30_ENST00000340612.4_Nonsense_Mutation_p.R489*	p.R489*			Q5VVM6	CCD30_HUMAN			17	2608	+			489					Q14F06|Q5VVM5	Nonsense_Mutation	SNP	ENST00000340612.4	37	c.1465C>T	CCDS30690.1	.	.	.	.	.	.	.	.	.	.	C	11.78	1.740432	0.30865	.	.	ENSG00000186409	ENST00000428554;ENST00000507855;ENST00000340612;ENST00000342022;ENST00000390640	.	.	.	5.68	-1.55	0.08558	.	1.060320	0.07239	N	0.863876	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.3869	0.44145	0.6241:0.2531:0.1228:0.0	.	.	.	.	X	489;278;489;489;278	.	ENSP00000340378:R489X	R	+	1	2	CCDC30	42849317	0.000000	0.05858	0.000000	0.03702	0.032000	0.12392	0.057000	0.14279	-0.219000	0.10003	0.563000	0.77884	CGA		0.373	CCDC30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019524.3	NM_025030		12	16	0	0	0	1	0	12	16					T	43076730	C	T	43076730	4	4	435	1	0	0	0	0	0	1	0	0	2805	760	27	1	1499	1	CCDC30	1	43076730	Nonsense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	29558	43076730	206173891	286	21211											
CCDC30	728621	broad.mit.edu	37	chr1	43119098	43119098	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	aagtagtgaatgaaatattgCctttatcaaactccaggtta	15	13	7	6	0	1	2	1	2	0	0	2	2	2	2	2	1	2	2	2	1	8	6			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:43119098C>T	ENST00000340612.4	+	14	2125	c.2125C>T	c.(2125-2127)Cct>Tct	p.P709S	CCDC30_ENST00000390640.4_Missense_Mutation_p.P498S|CCDC30_ENST00000342022.4_Missense_Mutation_p.P709S|CCDC30_ENST00000428554.2_Missense_Mutation_p.P709S|CCDC30_ENST00000507855.1_Missense_Mutation_p.P498S			Q5VVM6	CCD30_HUMAN	coiled-coil domain containing 30	709						extracellular vesicular exosome (GO:0070062)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(2)	30						TGAAATATTGCCTTTATCAAA	0.363																																						ENST00000428554.2																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(2)	30						c.(2125-2127)Cct>Tct		coiled-coil domain containing 30							86	86	86					1																	43119098		2203	4300	6503	SO:0001583	missense	728621							g.chr1:43119098C>T	AY639646	CCDS30690.1	1p34.2	2009-07-09			ENSG00000186409	ENSG00000186409			26103	protein-coding gene	gene with protein product	"prefoldin 6-like"					16710767	Standard	NM_001080850		Approved	FLJ20972, PFD6L, LOC728621	uc009vwk.1	Q5VVM6	OTTHUMG00000007334	ENST00000340612.4:c.2125C>T	1.37:g.43119098C>T	ENSP00000340378:p.Pro709Ser					CCDC30_ENST00000342022.4_Missense_Mutation_p.P709S|CCDC30_ENST00000390640.4_Missense_Mutation_p.P498S|CCDC30_ENST00000507855.1_Missense_Mutation_p.P498S|CCDC30_ENST00000340612.4_Missense_Mutation_p.P709S	p.P709S			Q5VVM6	CCD30_HUMAN			22	3268	+			709					Q14F06|Q5VVM5	Missense_Mutation	SNP	ENST00000340612.4	37	c.2125C>T	CCDS30690.1	.	.	.	.	.	.	.	.	.	.	C	11.48	1.651068	0.29336	.	.	ENSG00000186409	ENST00000428554;ENST00000507855;ENST00000340612;ENST00000342022;ENST00000390640	T;T;T;T;T	0.40225	1.04;1.04;1.04;1.04;1.04	5.1	0.911	0.19343	.	0.329988	0.26635	N	0.023284	T	0.49201	0.1543	L	0.54323	1.7	0.23381	N	0.997793	B;D	0.89917	0.408;1.0	B;D	0.71656	0.111;0.974	T	0.25467	-1.0131	10	0.46703	T	0.11	.	4.1586	0.10273	0.0:0.5454:0.1721:0.2825	.	709;498	Q5VVM6;Q5VVM6-2	CCD30_HUMAN;.	S	709;498;709;709;498	ENSP00000397035:P709S;ENSP00000426711:P498S;ENSP00000340378:P709S;ENSP00000339280:P709S;ENSP00000375051:P498S	ENSP00000340378:P709S	P	+	1	0	CCDC30	42891685	0.114000	0.22134	0.895000	0.35142	0.042000	0.13812	0.372000	0.20467	0.415000	0.25817	0.655000	0.94253	CCT		0.363	CCDC30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019524.3	NM_025030		27	45	0	0	0	1	0	27	45					T	43119098	C	T	43119098	3	4	435	1	0	0	0	0	1	0	0	0	2805	739	26	3	2179	3	CCDC30	1	43119098	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	42368	43119098	206131523	287	21212											
WDR65	149465	broad.mit.edu	37	chr1	43672498	43672498	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggaaagagagagacagaatgCgtgctcaagtcttgcagcta	14	7	13	7	1	2	3	1	0	1	3	2	6	2	4	0	1	4	3	0	1	4	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:43672498C>T	ENST00000372492.4	+	10	1974	c.1650C>T	c.(1648-1650)tgC>tgT	p.C550C	WDR65_ENST00000528956.1_Silent_p.C550C	NM_001195831.2	NP_001182760.2	Q96MR6	WDR65_HUMAN		550										NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				AGACAGAATGCGTGCTCAAGT	0.458																																						ENST00000372492.4																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23						c.(1648-1650)tgC>tgT		WD repeat domain 65							245	210	222					1																	43672498		2203	4300	6503	SO:0001819	synonymous_variant	149465							g.chr1:43672498C>T																												ENST00000372492.4:c.1650C>T	1.37:g.43672498C>T						WDR65_ENST00000528956.1_Silent_p.C550C	p.C550C	NM_001195831.2	NP_001182760.2	Q96MR6	WDR65_HUMAN			10	1974	+	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)	550					A6NKQ3|Q17RI9|Q5TAI0	Silent	SNP	ENST00000372492.4	37	c.1650C>T																																																																																					0.458	WDR65-002	NOVEL	not_organism_supported|basic|appris_principal|exp_conf	protein_coding	protein_coding	OTTHUMT00000384325.1			17	72	0	0	0	1	0	17	72					T	43672498	C	T	43672498	2	4	435	1	0	0	0	0	0	0	0	1	17313	776	27	1		1	WDR65	1	43672498	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	553400	43672498	205578123	288	21213											
TIE1	7075	broad.mit.edu	37	chr1	43778104	43778104	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcctgctgcgcctgtgggacGggacacgggggcaggagcgg	5	5	20	11	4	0	0	0	0	0	0	1	3	1	3	2	6	3	2	2	6	0	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:43778104G>A	ENST00000372476.3	+	12	1838	c.1759G>A	c.(1759-1761)Ggg>Agg	p.G587R	TIE1_ENST00000433781.2_Missense_Mutation_p.G232R	NM_001253357.1|NM_005424.4	NP_001240286.1|NP_005415.1	P35590	TIE1_HUMAN	tyrosine kinase with immunoglobulin-like and EGF-like domains 1	587	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				angiogenesis (GO:0001525)|in utero embryonic development (GO:0001701)|mesoderm development (GO:0007498)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell migration (GO:0030336)|peptidyl-tyrosine phosphorylation (GO:0018108)|plasma membrane fusion (GO:0045026)|response to retinoic acid (GO:0032526)|signal transduction (GO:0007165)|vasculogenesis (GO:0001570)	integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	70	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				CCTGTGGGACGGGACACGGGG	0.692																																						ENST00000372476.3																			0				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	70						c.(1759-1761)Ggg>Agg		tyrosine kinase with immunoglobulin-like and EGF-like domains 1							39	40	40					1																	43778104		2202	4298	6500	SO:0001583	missense	7075				mesoderm development	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity	g.chr1:43778104G>A	BC038239	CCDS482.1	1p34-p33	2013-02-11	2004-12-13	2004-12-14	ENSG00000066056	ENSG00000066056	2.7.10.1	"Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	11809	protein-coding gene	gene with protein product		600222	"tyrosine kinase with immunoglobulin and epidermal growth factor homology domains 1"	TIE		1312667	Standard	NM_005424		Approved	JTK14	uc001ciu.3	P35590	OTTHUMG00000007282	ENST00000372476.3:c.1759G>A	1.37:g.43778104G>A	ENSP00000361554:p.Gly587Arg					TIE1_ENST00000433781.2_Missense_Mutation_p.G232R	p.G587R	NM_001253357.1|NM_005424.4	NP_001240286.1|NP_005415.1	P35590	TIE1_HUMAN			12	1838	+	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)	587			Fibronectin type-III 2.		B5A949|B5A950	Missense_Mutation	SNP	ENST00000372476.3	37	c.1759G>A	CCDS482.1	.	.	.	.	.	.	.	.	.	.	G	9.083	0.999853	0.19121	.	.	ENSG00000066056	ENST00000372476;ENST00000433781	T;T	0.56444	0.46;0.46	5.29	4.34	0.51931	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.192177	0.25642	N	0.029268	T	0.36468	0.0968	N	0.14661	0.345	0.09310	N	0.999999	P;D;P;P;D	0.61080	0.676;0.977;0.882;0.723;0.989	B;P;B;B;P	0.47118	0.196;0.538;0.323;0.296;0.538	T	0.14144	-1.0483	10	0.22109	T	0.4	.	9.3944	0.38392	0.0:0.251:0.5974:0.1515	.	232;542;587;232;587	E9PG63;B4DTW8;B5A952;B4DKW0;P35590	.;.;.;.;TIE1_HUMAN	R	587;232	ENSP00000361554:G587R;ENSP00000411728:G232R	ENSP00000361554:G587R	G	+	1	0	TIE1	43550691	0.986000	0.35501	0.644000	0.29465	0.231000	0.25187	0.920000	0.28705	2.461000	0.83175	0.563000	0.77884	GGG		0.692	TIE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019011.1	NM_005424		10	23	0	0	0	1	0	10	23					A	43778104	G	A	43778104	3	1	435	1	0	0	0	0	1	0	0	0	15890	1116	39	2	1805	2	TIE1	1	43778104	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	105606	43778104	205472517	289	21214											
MPL	4352	broad.mit.edu	37	chr1	43812590	43812590	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctccgatacacaggagaaggCcatcaggactggaaggtatg	13	6	13	9	1	1	1	1	0	0	1	2	5	2	3	2	5	1	1	2	5	4	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:43812590C>T	ENST00000372470.3	+	8	1335	c.1293C>T	c.(1291-1293)ggC>ggT	p.G431G	MPL_ENST00000413998.2_Silent_p.G431G	NM_005373.2	NP_005364.1	P40238	TPOR_HUMAN	MPL proto-oncogene, thrombopoietin receptor	431	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				blood coagulation (GO:0007596)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|homeostasis of number of cells (GO:0048872)|platelet activation (GO:0030168)|regulation of chemokine production (GO:0032642)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cytokine receptor activity (GO:0004896)|transmembrane signaling receptor activity (GO:0004888)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(551)|large_intestine(3)|lung(7)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	567	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)			Eltrombopag(DB06210)|Romiplostim(DB05332)	CAGGAGAAGGCCATCAGGACT	0.562			Mis		MPD	MPD	congenital amegakaryocytic thrombocytopenia																														NSCLC(52;534 1204 10016 41452 44427)	ENST00000372470.3			yes	Dom	yes	Familial essential thrombocythemia	1	p34	4352	Mis	"myeloproliferative leukemia virus oncogene, thrombopoietin receptor"	yes	congenital amegakaryocytic thrombocytopenia	L		MPD	MPD		0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(551)|large_intestine(3)|lung(7)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	567						c.(1291-1293)ggC>ggT		myeloproliferative leukemia virus oncogene							51	46	48					1																	43812590		2203	4300	6503	SO:0001819	synonymous_variant	4352				cell proliferation|platelet activation	integral to plasma membrane	cytokine receptor activity	g.chr1:43812590C>T	M90102	CCDS483.1	1p34	2014-09-17	2014-06-26		ENSG00000117400	ENSG00000117400		"CD molecules", "Fibronectin type III domain containing"	7217	protein-coding gene	gene with protein product		159530	"myeloproliferative leukemia virus oncogene"			1608974	Standard	NM_005373		Approved	CD110, TPOR	uc001ciw.3	P40238	OTTHUMG00000007429	ENST00000372470.3:c.1293C>T	1.37:g.43812590C>T						MPL_ENST00000413998.2_Silent_p.G431G	p.G431G	NM_005373.2	NP_005364.1	P40238	TPOR_HUMAN			8	1335	+	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)	431			Fibronectin type-III 2.		Q5JUZ0	Silent	SNP	ENST00000372470.3	37	c.1293C>T	CCDS483.1																																																																																				0.562	MPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019522.1	NM_005373		19	22	0	0	0	1	0	19	22					T	43812590	C	T	43812590	2	4	435	1	0	0	0	0	0	0	0	1	9730	726	26	3		3	MPL	1	43812590	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	34486	43812590	205438031	290	21215											
C1orf84	23334	broad.mit.edu	37	chr1	43870163	43870163	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atcttgcatcgacttccagcCtgagatctatgtaactatcc	10	13	6	12	1	2	1	0	1	2	1	5	3	4	1	3	0	3	2	3	0	3	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:43870163C>A	ENST00000562955.1	+	4	440	c.440C>A	c.(439-441)cCt>cAt	p.P147H	SZT2_ENST00000372450.4_Missense_Mutation_p.P145H|SZT2_ENST00000310739.4_Missense_Mutation_p.P147H	NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN	seizure threshold 2 homolog (mouse)	147					central nervous system development (GO:0007417)|corpus callosum morphogenesis (GO:0021540)|embryo development (GO:0009790)|pigmentation (GO:0043473)|post-embryonic development (GO:0009791)|regulation of superoxide dismutase activity (GO:1901668)	extracellular vesicular exosome (GO:0070062)|peroxisome (GO:0005777)				NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						GACTTCCAGCCTGAGATCTAT	0.522																																						ENST00000562955.1																			0				NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						c.(439-441)cCt>cAt		seizure threshold 2 homolog (mouse)							130	113	119					1																	43870163		2203	4300	6503	SO:0001583	missense	23334					peroxisome		g.chr1:43870163C>A	AB007936	CCDS30694.1, CCDS30694.2	1p34.2	2012-11-19	2011-06-10	2011-06-10	ENSG00000198198	ENSG00000198198			29040	protein-coding gene	gene with protein product	"seizure threshold 2 homolog A (mouse)", "seizure threshold 2 homolog B (mouse)"	615463	"chromosome 1 open reading frame 84", "KIAA0467"	C1orf84, KIAA0467		9455484	Standard	NM_015284		Approved	FLJ10387, SZT2B, RP11-506B15.1, FLJ34502, SZT2A	uc001cjk.3	Q5T011	OTTHUMG00000007423	ENST00000562955.1:c.440C>A	1.37:g.43870163C>A	ENSP00000457168:p.Pro147His					SZT2_ENST00000310739.4_Missense_Mutation_p.P147H|SZT2_ENST00000372450.4_Missense_Mutation_p.P145H	p.P147H	NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN			4	440	+			147					A0PJK5|A7E2X4|O75055|Q5JUY7|Q5T012|Q5XKC7|Q6ZNI8|Q6ZT24|Q7Z636|Q8NAY9|Q9H5H7|Q9UFQ8	Missense_Mutation	SNP	ENST00000562955.1	37	c.440C>A	CCDS30694.2	.	.	.	.	.	.	.	.	.	.	C	32	5.116985	0.94385	.	.	ENSG00000223526	ENST00000372450;ENST00000310739;ENST00000357658	T;T	0.19938	2.11;2.11	5.8	5.8	0.92144	.	.	.	.	.	T	0.46814	0.1412	L	0.57536	1.79	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.33523	-0.9865	9	0.87932	D	0	.	20.063	0.97692	0.0:1.0:0.0:0.0	.	147;145	Q5T011-4;Q5T011-7	.;.	H	145;147;147	ENSP00000361528:P145H;ENSP00000312234:P147H	ENSP00000312234:P147H	P	+	2	0	AL139289.1	43642750	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	7.420000	0.80191	2.735000	0.93741	0.655000	0.94253	CCT		0.522	SZT2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019517.3	NM_015284		11	83	1	0	3.07112e-06	1	3.18879e-06	11	83					A	43870163	C	A	43870163	3	1	435	1	0	0	0	0	1	0	0	0	2061	681	24	5	448	5	C1orf84	1	43870163	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	57573	43870163	205380458	291	21216											
KIAA0467	23334	broad.mit.edu	37	chr1	43896378	43896378	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttccttcatgacctgccaccGctcttcctgcacctcacgtg	5	12	6	18	2	3	1	2	1	1	0	5	1	5	1	6	0	2	2	6	0	0	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:43896378G>A	ENST00000562955.1	+	31	4521	c.4521G>A	c.(4519-4521)ccG>ccA	p.P1507P	SZT2_ENST00000372442.1_Silent_p.P665P	NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN	seizure threshold 2 homolog (mouse)	1564					central nervous system development (GO:0007417)|corpus callosum morphogenesis (GO:0021540)|embryo development (GO:0009790)|pigmentation (GO:0043473)|post-embryonic development (GO:0009791)|regulation of superoxide dismutase activity (GO:1901668)	extracellular vesicular exosome (GO:0070062)|peroxisome (GO:0005777)				NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						ACCTGCCACCGCTCTTCCTGC	0.597																																						ENST00000562955.1																			0				NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						c.(4519-4521)ccG>ccA		seizure threshold 2 homolog (mouse)							131	136	135					1																	43896378		2203	4300	6503	SO:0001819	synonymous_variant	23334					peroxisome		g.chr1:43896378G>A	AB007936	CCDS30694.1, CCDS30694.2	1p34.2	2012-11-19	2011-06-10	2011-06-10	ENSG00000198198	ENSG00000198198			29040	protein-coding gene	gene with protein product	"seizure threshold 2 homolog A (mouse)", "seizure threshold 2 homolog B (mouse)"	615463	"chromosome 1 open reading frame 84", "KIAA0467"	C1orf84, KIAA0467		9455484	Standard	NM_015284		Approved	FLJ10387, SZT2B, RP11-506B15.1, FLJ34502, SZT2A	uc001cjk.3	Q5T011	OTTHUMG00000007423	ENST00000562955.1:c.4521G>A	1.37:g.43896378G>A						SZT2_ENST00000372442.1_Silent_p.P665P	p.P1507P	NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN			31	4521	+			1564					A0PJK5|A7E2X4|O75055|Q5JUY7|Q5T012|Q5XKC7|Q6ZNI8|Q6ZT24|Q7Z636|Q8NAY9|Q9H5H7|Q9UFQ8	Silent	SNP	ENST00000562955.1	37	c.4521G>A	CCDS30694.2																																																																																				0.597	SZT2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019517.3	NM_015284		47	90	0	0	0	1	0	47	90					A	43896378	G	A	43896378	2	1	435	1	0	0	0	0	0	0	0	1	8178	1074	38	1		1	KIAA0467	1	43896378	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	26215	43896378	205354243	292	21217											
KIAA0467	23334	broad.mit.edu	37	chr1	43896661	43896661	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agggccccccagttggaggcCgagttcccttgagggacctc	6	7	14	14	1	0	1	0	1	0	0	2	4	1	3	6	4	0	2	6	4	0	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:43896661C>T	ENST00000562955.1	+	32	4645	c.4645C>T	c.(4645-4647)Cga>Tga	p.R1549*	SZT2_ENST00000372442.1_Nonsense_Mutation_p.R707*	NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN	seizure threshold 2 homolog (mouse)	1606					central nervous system development (GO:0007417)|corpus callosum morphogenesis (GO:0021540)|embryo development (GO:0009790)|pigmentation (GO:0043473)|post-embryonic development (GO:0009791)|regulation of superoxide dismutase activity (GO:1901668)	extracellular vesicular exosome (GO:0070062)|peroxisome (GO:0005777)				NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						AGTTGGAGGCCGAGTTCCCTT	0.602																																						ENST00000562955.1																			0				NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						c.(4645-4647)Cga>Tga		seizure threshold 2 homolog (mouse)							60	58	59					1																	43896661		2203	4300	6503	SO:0001587	stop_gained	23334					peroxisome		g.chr1:43896661C>T	AB007936	CCDS30694.1, CCDS30694.2	1p34.2	2012-11-19	2011-06-10	2011-06-10	ENSG00000198198	ENSG00000198198			29040	protein-coding gene	gene with protein product	"seizure threshold 2 homolog A (mouse)", "seizure threshold 2 homolog B (mouse)"	615463	"chromosome 1 open reading frame 84", "KIAA0467"	C1orf84, KIAA0467		9455484	Standard	NM_015284		Approved	FLJ10387, SZT2B, RP11-506B15.1, FLJ34502, SZT2A	uc001cjk.3	Q5T011	OTTHUMG00000007423	ENST00000562955.1:c.4645C>T	1.37:g.43896661C>T	ENSP00000457168:p.Arg1549*					SZT2_ENST00000372442.1_Nonsense_Mutation_p.R707*	p.R1549*	NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN			32	4645	+			1606					A0PJK5|A7E2X4|O75055|Q5JUY7|Q5T012|Q5XKC7|Q6ZNI8|Q6ZT24|Q7Z636|Q8NAY9|Q9H5H7|Q9UFQ8	Nonsense_Mutation	SNP	ENST00000562955.1	37	c.4645C>T	CCDS30694.2	.	.	.	.	.	.	.	.	.	.	C	42	9.596147	0.99214	.	.	ENSG00000198198	ENST00000372442	.	.	.	5.79	5.79	0.91817	.	0.395446	0.24851	N	0.035094	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06236	T	0.91	.	12.8013	0.57588	0.2044:0.7956:0.0:0.0	.	.	.	.	X	707	.	ENSP00000361519:R707X	R	+	1	2	SZT2	43669248	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	2.321000	0.43805	2.733000	0.93635	0.655000	0.94253	CGA		0.602	SZT2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019517.3	NM_015284		16	23	0	0	0	1	0	16	23					T	43896661	C	T	43896661	4	4	435	1	0	0	0	0	0	1	0	0	8178	644	23	2	2181	2	KIAA0467	1	43896661	Nonsense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	283	43896661	205353960	293	21218											
KIAA0467	23334	broad.mit.edu	37	chr1	43903311	43903311	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cggccatggaaaggggatgcGctgcccccttccctcgctct	5	8	12	16	3	1	0	0	0	1	0	3	2	2	2	4	4	2	2	4	4	1	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:43903311G>A	ENST00000562955.1	+	44	6165	c.6165G>A	c.(6163-6165)gcG>gcA	p.A2055A	SZT2_ENST00000372442.1_Silent_p.A1213A	NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN	seizure threshold 2 homolog (mouse)	2112					central nervous system development (GO:0007417)|corpus callosum morphogenesis (GO:0021540)|embryo development (GO:0009790)|pigmentation (GO:0043473)|post-embryonic development (GO:0009791)|regulation of superoxide dismutase activity (GO:1901668)	extracellular vesicular exosome (GO:0070062)|peroxisome (GO:0005777)				NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						AAGGGGATGCGCTGCCCCCTT	0.582																																						ENST00000562955.1																			0				NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						c.(6163-6165)gcG>gcA		seizure threshold 2 homolog (mouse)							40	38	39					1																	43903311		2203	4300	6503	SO:0001819	synonymous_variant	23334					peroxisome		g.chr1:43903311G>A	AB007936	CCDS30694.1, CCDS30694.2	1p34.2	2012-11-19	2011-06-10	2011-06-10	ENSG00000198198	ENSG00000198198			29040	protein-coding gene	gene with protein product	"seizure threshold 2 homolog A (mouse)", "seizure threshold 2 homolog B (mouse)"	615463	"chromosome 1 open reading frame 84", "KIAA0467"	C1orf84, KIAA0467		9455484	Standard	NM_015284		Approved	FLJ10387, SZT2B, RP11-506B15.1, FLJ34502, SZT2A	uc001cjk.3	Q5T011	OTTHUMG00000007423	ENST00000562955.1:c.6165G>A	1.37:g.43903311G>A						SZT2_ENST00000372442.1_Silent_p.A1213A	p.A2055A	NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN			44	6165	+			2112					A0PJK5|A7E2X4|O75055|Q5JUY7|Q5T012|Q5XKC7|Q6ZNI8|Q6ZT24|Q7Z636|Q8NAY9|Q9H5H7|Q9UFQ8	Silent	SNP	ENST00000562955.1	37	c.6165G>A	CCDS30694.2																																																																																				0.582	SZT2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019517.3	NM_015284		15	19	0	0	0	1	0	15	19					A	43903311	G	A	43903311	2	1	435	1	0	0	0	0	0	0	0	1	8178	1074	38	1		1	KIAA0467	1	43903311	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	6650	43903311	205347310	294	21219											
KIAA0467	23334	broad.mit.edu	37	chr1	43906208	43906208	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcccctgtccctggggagcCtgtgactccacccagcaaag	7	7	11	16	0	0	1	0	1	0	0	2	2	2	2	6	2	3	1	6	2	1	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:43906208C>A	ENST00000562955.1	+	51	7124	c.7124C>A	c.(7123-7125)cCt>cAt	p.P2375H	SZT2_ENST00000372442.1_Missense_Mutation_p.P1533H	NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN	seizure threshold 2 homolog (mouse)	2432					central nervous system development (GO:0007417)|corpus callosum morphogenesis (GO:0021540)|embryo development (GO:0009790)|pigmentation (GO:0043473)|post-embryonic development (GO:0009791)|regulation of superoxide dismutase activity (GO:1901668)	extracellular vesicular exosome (GO:0070062)|peroxisome (GO:0005777)				NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						CCTGGGGAGCCTGTGACTCCA	0.577																																						ENST00000562955.1																			0				NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						c.(7123-7125)cCt>cAt		seizure threshold 2 homolog (mouse)							85	82	83					1																	43906208		2203	4300	6503	SO:0001583	missense	23334					peroxisome		g.chr1:43906208C>A	AB007936	CCDS30694.1, CCDS30694.2	1p34.2	2012-11-19	2011-06-10	2011-06-10	ENSG00000198198	ENSG00000198198			29040	protein-coding gene	gene with protein product	"seizure threshold 2 homolog A (mouse)", "seizure threshold 2 homolog B (mouse)"	615463	"chromosome 1 open reading frame 84", "KIAA0467"	C1orf84, KIAA0467		9455484	Standard	NM_015284		Approved	FLJ10387, SZT2B, RP11-506B15.1, FLJ34502, SZT2A	uc001cjk.3	Q5T011	OTTHUMG00000007423	ENST00000562955.1:c.7124C>A	1.37:g.43906208C>A	ENSP00000457168:p.Pro2375His					SZT2_ENST00000372442.1_Missense_Mutation_p.P1533H	p.P2375H	NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN			51	7124	+			2432					A0PJK5|A7E2X4|O75055|Q5JUY7|Q5T012|Q5XKC7|Q6ZNI8|Q6ZT24|Q7Z636|Q8NAY9|Q9H5H7|Q9UFQ8	Missense_Mutation	SNP	ENST00000562955.1	37	c.7124C>A	CCDS30694.2	.	.	.	.	.	.	.	.	.	.	C	19.87	3.906728	0.72868	.	.	ENSG00000198198	ENST00000372442	.	.	.	5.13	5.13	0.70059	.	0.057798	0.64402	D	0.000001	T	0.63022	0.2476	L	0.29908	0.895	0.31865	N	0.620509	D	0.89917	1.0	D	0.76575	0.988	T	0.65940	-0.6046	9	0.46703	T	0.11	.	18.7731	0.91900	0.0:1.0:0.0:0.0	.	2375	Q5T011-5	.	H	1533	.	ENSP00000361519:P1533H	P	+	2	0	SZT2	43678795	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	4.731000	0.62022	2.675000	0.91044	0.655000	0.94253	CCT		0.577	SZT2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019517.3	NM_015284		25	30	1	0	2.21704e-12	1	2.3975e-12	25	30					A	43906208	C	A	43906208	3	1	435	1	0	0	0	0	1	0	0	0	8178	681	24	5	4736	5	KIAA0467	1	43906208	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	2897	43906208	205344413	295	21220											
KIAA0467	23334	broad.mit.edu	37	chr1	43906960	43906960	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tggatcggccagaagacactCggggccggaggcgtcacaaa	11	4	15	11	4	1	2	1	0	0	2	3	4	1	4	2	6	0	0	2	6	2	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:43906960C>T	ENST00000562955.1	+	52	7249	c.7249C>T	c.(7249-7251)Cgg>Tgg	p.R2417W	SZT2_ENST00000372442.1_Missense_Mutation_p.R1575W	NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN	seizure threshold 2 homolog (mouse)	2474					central nervous system development (GO:0007417)|corpus callosum morphogenesis (GO:0021540)|embryo development (GO:0009790)|pigmentation (GO:0043473)|post-embryonic development (GO:0009791)|regulation of superoxide dismutase activity (GO:1901668)	extracellular vesicular exosome (GO:0070062)|peroxisome (GO:0005777)				NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						AGAAGACACTCGGGGCCGGAG	0.552																																						ENST00000562955.1																			0				NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						c.(7249-7251)Cgg>Tgg		seizure threshold 2 homolog (mouse)							80	89	86					1																	43906960		2203	4300	6503	SO:0001583	missense	23334					peroxisome		g.chr1:43906960C>T	AB007936	CCDS30694.1, CCDS30694.2	1p34.2	2012-11-19	2011-06-10	2011-06-10	ENSG00000198198	ENSG00000198198			29040	protein-coding gene	gene with protein product	"seizure threshold 2 homolog A (mouse)", "seizure threshold 2 homolog B (mouse)"	615463	"chromosome 1 open reading frame 84", "KIAA0467"	C1orf84, KIAA0467		9455484	Standard	NM_015284		Approved	FLJ10387, SZT2B, RP11-506B15.1, FLJ34502, SZT2A	uc001cjk.3	Q5T011	OTTHUMG00000007423	ENST00000562955.1:c.7249C>T	1.37:g.43906960C>T	ENSP00000457168:p.Arg2417Trp					SZT2_ENST00000372442.1_Missense_Mutation_p.R1575W	p.R2417W	NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN			52	7249	+			2474					A0PJK5|A7E2X4|O75055|Q5JUY7|Q5T012|Q5XKC7|Q6ZNI8|Q6ZT24|Q7Z636|Q8NAY9|Q9H5H7|Q9UFQ8	Missense_Mutation	SNP	ENST00000562955.1	37	c.7249C>T	CCDS30694.2	.	.	.	.	.	.	.	.	.	.	C	18.99	3.739964	0.69304	.	.	ENSG00000198198	ENST00000372442	.	.	.	5.41	3.4	0.38934	.	0.273368	0.35207	N	0.003371	T	0.57330	0.2046	L	0.36672	1.1	0.28447	N	0.916535	D	0.89917	1.0	D	0.71414	0.973	T	0.56396	-0.7986	9	0.62326	D	0.03	.	14.9614	0.71158	0.258:0.7419:0.0:0.0	.	2417	Q5T011-5	.	W	1575	.	ENSP00000361519:R1575W	R	+	1	2	SZT2	43679547	0.999000	0.42202	0.995000	0.50966	0.967000	0.64934	1.519000	0.35888	1.401000	0.46761	0.591000	0.81541	CGG		0.552	SZT2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019517.3	NM_015284		10	79	0	0	0	1	0	10	79					T	43906960	C	T	43906960	3	4	435	1	0	0	0	0	1	0	0	0	8178	875	31	2	4865	2	KIAA0467	1	43906960	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	752	43906960	205343661	296	21221											
KIAA0467	23334	broad.mit.edu	37	chr1	43908202	43908202	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgcagtggcagaatgcacgAgcccatctcatcttctgcct	8	10	10	13	1	3	1	1	0	3	1	4	2	3	1	2	1	4	3	2	1	1	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:43908202A>G	ENST00000562955.1	+	57	7893	c.7893A>G	c.(7891-7893)cgA>cgG	p.R2631R	SZT2_ENST00000372442.1_Silent_p.R1789R	NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN	seizure threshold 2 homolog (mouse)	2688					central nervous system development (GO:0007417)|corpus callosum morphogenesis (GO:0021540)|embryo development (GO:0009790)|pigmentation (GO:0043473)|post-embryonic development (GO:0009791)|regulation of superoxide dismutase activity (GO:1901668)	extracellular vesicular exosome (GO:0070062)|peroxisome (GO:0005777)				NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						AGAATGCACGAGCCCATCTCA	0.597																																						ENST00000562955.1																			0				NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						c.(7891-7893)cgA>cgG		seizure threshold 2 homolog (mouse)							80	81	81					1																	43908202		2203	4300	6503	SO:0001819	synonymous_variant	23334					peroxisome		g.chr1:43908202A>G	AB007936	CCDS30694.1, CCDS30694.2	1p34.2	2012-11-19	2011-06-10	2011-06-10	ENSG00000198198	ENSG00000198198			29040	protein-coding gene	gene with protein product	"seizure threshold 2 homolog A (mouse)", "seizure threshold 2 homolog B (mouse)"	615463	"chromosome 1 open reading frame 84", "KIAA0467"	C1orf84, KIAA0467		9455484	Standard	NM_015284		Approved	FLJ10387, SZT2B, RP11-506B15.1, FLJ34502, SZT2A	uc001cjk.3	Q5T011	OTTHUMG00000007423	ENST00000562955.1:c.7893A>G	1.37:g.43908202A>G						SZT2_ENST00000372442.1_Silent_p.R1789R	p.R2631R	NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN			57	7893	+			2688					A0PJK5|A7E2X4|O75055|Q5JUY7|Q5T012|Q5XKC7|Q6ZNI8|Q6ZT24|Q7Z636|Q8NAY9|Q9H5H7|Q9UFQ8	Silent	SNP	ENST00000562955.1	37	c.7893A>G	CCDS30694.2																																																																																				0.597	SZT2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019517.3	NM_015284		31	42	0	0	0	1	0	31	42					G	43908202	A	G	43908202	2	3	435	1	0	0	0	0	0	0	0	1	8178	291	11	4		4	KIAA0467	1	43908202	Silent	SNP	A	TCGA-XK-AAIW-01A-11D-A41K-08	1242	43908202	205342419	297	21222											
KIAA0467	23334	broad.mit.edu	37	chr1	43908866	43908866	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcaaccctcagagctggaGcgccagatgaagatggaaaa	14	5	11	11	1	2	4	2	1	0	3	2	6	2	6	3	2	3	1	3	2	4	0	rs140309222		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:43908866G>A	ENST00000562955.1	+	59	8256	c.8256G>A	c.(8254-8256)gaG>gaA	p.E2752E	SZT2_ENST00000372442.1_Silent_p.E1910E	NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN	seizure threshold 2 homolog (mouse)	2809					central nervous system development (GO:0007417)|corpus callosum morphogenesis (GO:0021540)|embryo development (GO:0009790)|pigmentation (GO:0043473)|post-embryonic development (GO:0009791)|regulation of superoxide dismutase activity (GO:1901668)	extracellular vesicular exosome (GO:0070062)|peroxisome (GO:0005777)				NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						CAGAGCTGGAGCGCCAGATGA	0.562													G|||	1	0.000199681	0	0.0014	5008	,	,		19794	0		0	False		,,,				2504	0					ENST00000562955.1																			0				NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						c.(8254-8256)gaG>gaA		seizure threshold 2 homolog (mouse)		G		12,4394	19.1+/-41.9	0,12,2191	143	134	137		8256	2.8	1	1	dbSNP_134	137	0,8600		0,0,4300	no	coding-synonymous	SZT2	NM_015284.3		0,12,6491	AA,AG,GG		0.0,0.2724,0.0923		2752/3376	43908866	12,12994	2203	4300	6503	SO:0001819	synonymous_variant	23334					peroxisome		g.chr1:43908866G>A	AB007936	CCDS30694.1, CCDS30694.2	1p34.2	2012-11-19	2011-06-10	2011-06-10	ENSG00000198198	ENSG00000198198			29040	protein-coding gene	gene with protein product	"seizure threshold 2 homolog A (mouse)", "seizure threshold 2 homolog B (mouse)"	615463	"chromosome 1 open reading frame 84", "KIAA0467"	C1orf84, KIAA0467		9455484	Standard	NM_015284		Approved	FLJ10387, SZT2B, RP11-506B15.1, FLJ34502, SZT2A	uc001cjk.3	Q5T011	OTTHUMG00000007423	ENST00000562955.1:c.8256G>A	1.37:g.43908866G>A						SZT2_ENST00000372442.1_Silent_p.E1910E	p.E2752E	NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN			59	8256	+			2809					A0PJK5|A7E2X4|O75055|Q5JUY7|Q5T012|Q5XKC7|Q6ZNI8|Q6ZT24|Q7Z636|Q8NAY9|Q9H5H7|Q9UFQ8	Silent	SNP	ENST00000562955.1	37	c.8256G>A	CCDS30694.2																																																																																				0.562	SZT2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019517.3	NM_015284		21	17	0	0	0	1	0	21	17					A	43908866	G	A	43908866	2	1	435	1	0	0	0	0	0	0	0	1	8178	962	34	3		3	KIAA0467	1	43908866	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	664	43908866	205341755	298	21223											
PTPRF	5792	broad.mit.edu	37	chr1	44019259	44019259	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tacaggagaacccaagccgcGcatcacatggatgaagaagg	15	4	12	10	2	1	3	1	1	0	2	1	5	1	4	2	3	3	1	2	3	5	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:44019259G>A	ENST00000359947.4	+	4	528	c.188G>A	c.(187-189)cGc>cAc	p.R63H	PTPRF_ENST00000372414.3_Missense_Mutation_p.R63H|PTPRF_ENST00000372413.3_Missense_Mutation_p.R63H|PTPRF_ENST00000438120.1_Missense_Mutation_p.R63H	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F	63	Ig-like C2-type 1.				cell adhesion (GO:0007155)|cell migration (GO:0016477)|negative regulation of receptor binding (GO:1900121)|peptidyl-tyrosine dephosphorylation (GO:0035335)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	heparin binding (GO:0008201)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.R53H(1)		NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				CCCAAGCCGCGCATCACATGG	0.597																																						ENST00000359947.4																			1	Substitution - Missense(1)	p.R53H(1)	large_intestine(1)	NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72						c.(187-189)cGc>cAc		protein tyrosine phosphatase, receptor type, F							185	177	180					1																	44019259		2203	4300	6503	SO:0001583	missense	5792				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity	g.chr1:44019259G>A	Y00815	CCDS489.2, CCDS490.2	1p34	2013-02-11			ENSG00000142949	ENSG00000142949		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	9670	protein-coding gene	gene with protein product		179590		LAR		7558042	Standard	NM_130440		Approved		uc001cjr.3	P10586	OTTHUMG00000007501	ENST00000359947.4:c.188G>A	1.37:g.44019259G>A	ENSP00000353030:p.Arg63His					PTPRF_ENST00000372414.3_Missense_Mutation_p.R63H|PTPRF_ENST00000438120.1_Missense_Mutation_p.R63H|PTPRF_ENST00000372413.3_Missense_Mutation_p.R63H	p.R63H	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN			4	528	+	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)	63			Ig-like C2-type 1.		D3DPX6|D3DPX7|Q5T021|Q5T022|Q5W9G2|Q86WS0	Missense_Mutation	SNP	ENST00000359947.4	37	c.188G>A	CCDS489.2	.	.	.	.	.	.	.	.	.	.	G	19.40	3.820429	0.71028	.	.	ENSG00000142949	ENST00000359947;ENST00000438120;ENST00000372414;ENST00000372413;ENST00000437607	T;T;T;T;T	0.67523	-0.27;-0.27;-0.27;-0.27;-0.27	4.89	4.89	0.63831	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.33161	N	0.005202	T	0.66127	0.2758	N	0.16708	0.43	0.80722	D	1	D;P;D;D	0.67145	0.995;0.914;0.963;0.996	P;B;P;P	0.58331	0.823;0.353;0.485;0.837	T	0.65487	-0.6156	9	.	.	.	.	18.4352	0.90643	0.0:0.0:1.0:0.0	.	63;63;63;63	Q5T020;P10586-2;P10586;Q5T019	.;.;PTPRF_HUMAN;.	H	63	ENSP00000353030:R63H;ENSP00000398822:R63H;ENSP00000361491:R63H;ENSP00000361490:R63H;ENSP00000413306:R63H	.	R	+	2	0	PTPRF	43791846	0.999000	0.42202	0.926000	0.36857	0.849000	0.48306	5.805000	0.69143	2.405000	0.81733	0.655000	0.94253	CGC		0.597	PTPRF-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000019710.1			43	85	0	0	0	1	0	43	85					A	44019259	G	A	44019259	3	1	435	1	0	0	0	0	1	0	0	0	12801	1087	38	1	194	1	PTPRF	1	44019259	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	110393	44019259	205231362	299	21224											
PTPRF	5792	broad.mit.edu	37	chr1	44054509	44054509	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggtgcacccatgccctacGtgaagtggatgatgggggcc	7	8	16	10	1	0	2	0	2	0	0	0	3	0	3	3	4	3	1	3	4	2	1	rs368337407		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:44054509G>A	ENST00000359947.4	+	8	1127	c.787G>A	c.(787-789)Gtg>Atg	p.V263M	PTPRF_ENST00000422171.2_5'Flank|PTPRF_ENST00000372414.3_Missense_Mutation_p.V263M|PTPRF_ENST00000372413.3_Missense_Mutation_p.V263M|PTPRF_ENST00000438120.1_Missense_Mutation_p.V263M	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F	263	Ig-like C2-type 3.				cell adhesion (GO:0007155)|cell migration (GO:0016477)|negative regulation of receptor binding (GO:1900121)|peptidyl-tyrosine dephosphorylation (GO:0035335)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	heparin binding (GO:0008201)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				CATGCCCTACGTGAAGTGGAT	0.617																																						ENST00000359947.4																			0				NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72						c.(787-789)Gtg>Atg		protein tyrosine phosphatase, receptor type, F		G	MET/VAL,MET/VAL	1,4405	2.1+/-5.4	0,1,2202	111	87	95		787,787	5.2	1	1		95	0,8600		0,0,4300	no	missense,missense	PTPRF	NM_002840.3,NM_130440.2	21,21	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging	263/1908,263/1899	44054509	1,13005	2203	4300	6503	SO:0001583	missense	5792				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity	g.chr1:44054509G>A	Y00815	CCDS489.2, CCDS490.2	1p34	2013-02-11			ENSG00000142949	ENSG00000142949		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	9670	protein-coding gene	gene with protein product		179590		LAR		7558042	Standard	NM_130440		Approved		uc001cjr.3	P10586	OTTHUMG00000007501	ENST00000359947.4:c.787G>A	1.37:g.44054509G>A	ENSP00000353030:p.Val263Met					PTPRF_ENST00000372414.3_Missense_Mutation_p.V263M|PTPRF_ENST00000438120.1_Missense_Mutation_p.V263M|PTPRF_ENST00000372413.3_Missense_Mutation_p.V263M	p.V263M	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN			8	1127	+	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)	263			Ig-like C2-type 3.		D3DPX6|D3DPX7|Q5T021|Q5T022|Q5W9G2|Q86WS0	Missense_Mutation	SNP	ENST00000359947.4	37	c.787G>A	CCDS489.2	.	.	.	.	.	.	.	.	.	.	G	24.6	4.546502	0.86022	2.27E-4	0.0	ENSG00000142949	ENST00000359947;ENST00000438120;ENST00000372414;ENST00000372413	T;T;T;T	0.76968	-1.06;-1.06;-1.06;-1.06	5.22	5.22	0.72569	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.31347	N	0.007811	D	0.89986	0.6874	M	0.91090	3.175	0.80722	D	1	D;D	0.89917	0.997;1.0	P;D	0.66602	0.756;0.945	D	0.88992	0.3415	10	0.32370	T	0.25	.	19.6648	0.95889	0.0:0.0:1.0:0.0	.	263;263	P10586-2;P10586	.;PTPRF_HUMAN	M	263	ENSP00000353030:V263M;ENSP00000398822:V263M;ENSP00000361491:V263M;ENSP00000361490:V263M	ENSP00000353030:V263M	V	+	1	0	PTPRF	43827096	1.000000	0.71417	0.995000	0.50966	0.950000	0.60333	7.864000	0.87037	2.811000	0.96726	0.655000	0.94253	GTG		0.617	PTPRF-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000019710.1			8	12	0	0	0	1	0	8	12					A	44054509	G	A	44054509	3	1	435	1	0	0	0	0	1	0	0	0	12801	1145	40	1	809	1	PTPRF	1	44054509	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	35250	44054509	205196112	300	21225											
PTPRF	5792	broad.mit.edu	37	chr1	44086637	44086637	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	accaaggagcagtttggacaGgatgggcctatcacggtgca	11	7	14	9	1	1	0	1	0	0	0	1	3	1	3	2	5	2	3	2	5	2	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:44086637G>T	ENST00000359947.4	+	32	5833	c.5493G>T	c.(5491-5493)caG>caT	p.Q1831H	PTPRF_ENST00000496447.1_3'UTR|PTPRF_ENST00000422171.2_Missense_Mutation_p.Q1190H|PTPRF_ENST00000372414.3_Missense_Mutation_p.Q1831H|PTPRF_ENST00000372413.3_Missense_Mutation_p.Q1822H|PTPRF_ENST00000438120.1_Missense_Mutation_p.Q1822H	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F	1831	Tyrosine-protein phosphatase 2. {ECO:0000255|PROSITE-ProRule:PRU00160}.				cell adhesion (GO:0007155)|cell migration (GO:0016477)|negative regulation of receptor binding (GO:1900121)|peptidyl-tyrosine dephosphorylation (GO:0035335)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	heparin binding (GO:0008201)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				AGTTTGGACAGGATGGGCCTA	0.622																																						ENST00000359947.4																			0				NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72						c.(5491-5493)caG>caT		protein tyrosine phosphatase, receptor type, F							86	74	78					1																	44086637		2203	4300	6503	SO:0001583	missense	5792				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity	g.chr1:44086637G>T	Y00815	CCDS489.2, CCDS490.2	1p34	2013-02-11			ENSG00000142949	ENSG00000142949		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	9670	protein-coding gene	gene with protein product		179590		LAR		7558042	Standard	NM_130440		Approved		uc001cjr.3	P10586	OTTHUMG00000007501	ENST00000359947.4:c.5493G>T	1.37:g.44086637G>T	ENSP00000353030:p.Gln1831His					PTPRF_ENST00000372414.3_Missense_Mutation_p.Q1831H|PTPRF_ENST00000438120.1_Missense_Mutation_p.Q1822H|PTPRF_ENST00000372413.3_Missense_Mutation_p.Q1822H|PTPRF_ENST00000422171.2_Missense_Mutation_p.Q1190H|PTPRF_ENST00000496447.1_3'UTR	p.Q1831H	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN			32	5833	+	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)	1831			Tyrosine-protein phosphatase 2.		D3DPX6|D3DPX7|Q5T021|Q5T022|Q5W9G2|Q86WS0	Missense_Mutation	SNP	ENST00000359947.4	37	c.5493G>T	CCDS489.2	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	G|G|G	20.6|20.6|20.6	4.014148|4.014148|4.014148	0.75161|0.75161|0.75161	.|.|.	.|.|.	ENSG00000142949|ENSG00000142949|ENSG00000142949	ENST00000412568;ENST00000414879|ENST00000359947;ENST00000438120;ENST00000372414;ENST00000372413;ENST00000422171;ENST00000372407|ENST00000429895	.|D;D;D;D;D;D|.	.|0.83837|.	.|-1.77;-1.77;-1.77;-1.77;-1.77;-1.77|.	5.13|5.13|5.13	4.21|4.21|4.21	0.49690|0.49690|0.49690	.|Protein-tyrosine phosphatase, receptor/non-receptor type (3);Protein-tyrosine/Dual-specificity phosphatase (1);|.	.|.|.	.|.|.	.|.|.	.|.|.	.|T|T	.|0.53318|0.53318	.|0.1789|0.1789	L|L|L	0.31120|0.31120|0.31120	0.905|0.905|0.905	0.80722|0.80722|0.80722	D|D|D	1|1|1	.|B;D;D;D;D|.	.|0.76494|.	.|0.079;0.997;0.998;0.995;0.999|.	.|B;D;D;D;D|.	.|0.91635|.	.|0.027;0.914;0.981;0.984;0.999|.	.|T|T	.|0.49661|0.49661	.|-0.8916|-0.8916	.|9|5	.|0.72032|.	.|D|.	.|0.01|.	.|.|.	14.2703|14.2703|14.2703	0.66147|0.66147|0.66147	0.0731:0.0:0.9269:0.0|0.0731:0.0:0.9269:0.0|0.0731:0.0:0.9269:0.0	.|.|.	.|1476;1190;1408;1822;1831|.	.|Q59FI2;F2Z3B8;Q5W9G3;P10586-2;P10586|.	.|.;.;.;.;PTPRF_HUMAN|.	X|H|M	1215;1256|1831;1822;1831;1822;1190;903|1477	.|ENSP00000353030:Q1831H;ENSP00000398822:Q1822H;ENSP00000361491:Q1831H;ENSP00000361490:Q1822H;ENSP00000387885:Q1190H;ENSP00000361484:Q903H|.	.|ENSP00000353030:Q1831H|.	G|Q|R	+|+|+	1|3|2	0|2|0	PTPRF|PTPRF|PTPRF	43859224|43859224|43859224	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.984000|0.984000|0.984000	0.73092|0.73092|0.73092	3.749000|3.749000|3.749000	0.55150|0.55150|0.55150	1.473000|1.473000|1.473000	0.48159|0.48159|0.48159	0.650000|0.650000|0.650000	0.86243|0.86243|0.86243	GGA|CAG|AGG		0.622	PTPRF-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000019710.1			11	15	1	0	3.86212e-05	1	3.97146e-05	11	15					T	44086637	G	T	44086637	3	4	435	1	0	0	0	0	1	0	0	0	12801	991	35	5	5611	5	PTPRF	1	44086637	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	32128	44086637	205163984	301	21226											
ST3GAL3	6487	broad.mit.edu	37	chr1	44201956	44201956	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gggactcttggtatttgtgcGcaatctgctgctagccctct	5	14	11	11	1	3	0	0	0	3	0	3	1	3	1	1	2	4	4	1	2	3	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:44201956G>A	ENST00000361392.4	+	2	200	c.23G>A	c.(22-24)cGc>cAc	p.R8H	ST3GAL3_ENST00000372362.2_Missense_Mutation_p.R8H|ST3GAL3_ENST00000372368.2_Missense_Mutation_p.R8H|ST3GAL3_ENST00000262915.3_Missense_Mutation_p.R8H|ST3GAL3_ENST00000361746.4_Missense_Mutation_p.R8H|ST3GAL3_ENST00000533933.1_Missense_Mutation_p.R8H|ST3GAL3_ENST00000372372.2_Missense_Mutation_p.R8H|ST3GAL3_ENST00000531993.1_Missense_Mutation_p.R8H|ST3GAL3_ENST00000361400.4_Missense_Mutation_p.R8H|ST3GAL3_ENST00000372375.2_Missense_Mutation_p.R8H|ST3GAL3_ENST00000528371.1_Missense_Mutation_p.R8H|ST3GAL3_ENST00000332628.6_Missense_Mutation_p.R8H|ST3GAL3_ENST00000347631.2_Missense_Mutation_p.R8H|ST3GAL3_ENST00000545417.1_Missense_Mutation_p.R8H|ST3GAL3_ENST00000335430.6_Missense_Mutation_p.R8H|ST3GAL3_ENST00000372369.1_Missense_Mutation_p.R8H|ST3GAL3_ENST00000351035.3_Missense_Mutation_p.R8H|ST3GAL3_ENST00000372365.1_Missense_Mutation_p.R8H|ST3GAL3_ENST00000330208.2_Missense_Mutation_p.R8H|ST3GAL3_ENST00000531816.1_Missense_Mutation_p.R8H|ST3GAL3_ENST00000361812.4_Missense_Mutation_p.R8H|ST3GAL3_ENST00000372366.1_Missense_Mutation_p.R8H|ST3GAL3_ENST00000353126.3_Missense_Mutation_p.R8H|ST3GAL3_ENST00000531451.1_Missense_Mutation_p.R8H|ST3GAL3_ENST00000372374.2_Missense_Mutation_p.R8H|ST3GAL3_ENST00000372367.1_Missense_Mutation_p.R8H|ST3GAL3_ENST00000372377.4_Missense_Mutation_p.R8H	NM_001270459.1|NM_006279.3|NM_174964.2	NP_001257388.1|NP_006270.1|NP_777624.1	Q11203	SIAT6_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase 3	8					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|sialylation (GO:0097503)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)	beta-galactoside (CMP) alpha-2,3-sialyltransferase activity (GO:0003836)|N-acetyllactosaminide alpha-2,3-sialyltransferase activity (GO:0008118)			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(3)|skin(1)	19	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0518)				GTATTTGTGCGCAATCTGCTG	0.413																																						ENST00000262915.3																			0				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(3)|skin(1)	19						c.(22-24)cGc>cAc		ST3 beta-galactoside alpha-2,3-sialyltransferase 3							289	270	276					1																	44201956		2203	4300	6503	SO:0001583	missense	6487				protein glycosylation	extracellular region|Golgi cisterna membrane|integral to Golgi membrane	N-acetyllactosaminide alpha-2,3-sialyltransferase activity	g.chr1:44201956G>A	L23768	CCDS492.1, CCDS493.1, CCDS494.1, CCDS495.1, CCDS496.1, CCDS497.1, CCDS498.1, CCDS499.1, CCDS500.1, CCDS53310.1, CCDS57988.1, CCDS57989.1, CCDS57990.1, CCDS57991.1, CCDS57992.1, CCDS57993.1, CCDS57994.1	1p34.1	2014-01-31	2005-02-07	2005-02-07	ENSG00000126091	ENSG00000126091	2.4.99.6	"Sialyltransferases"	10866	protein-coding gene	gene with protein product	"ST3Gal III"	606494	"sialyltransferase 6 (N-acetyllacosaminide alpha 2,3-sialyltransferase)", "mental retardation, non-syndromic, autosomal recessive, 12"	SIAT6, MRT12		8333853, 21907012	Standard	NM_174963		Approved		uc001cjz.4	Q11203	OTTHUMG00000007561	ENST00000361392.4:c.23G>A	1.37:g.44201956G>A	ENSP00000355341:p.Arg8His					ST3GAL3_ENST00000372374.2_Missense_Mutation_p.R8H|ST3GAL3_ENST00000372369.1_Missense_Mutation_p.R8H|ST3GAL3_ENST00000361392.4_Missense_Mutation_p.R8H|ST3GAL3_ENST00000531451.1_Missense_Mutation_p.R8H|ST3GAL3_ENST00000531816.1_Missense_Mutation_p.R8H|ST3GAL3_ENST00000528371.1_Missense_Mutation_p.R8H|ST3GAL3_ENST00000372375.2_Missense_Mutation_p.R8H|ST3GAL3_ENST00000545417.1_Missense_Mutation_p.R8H|ST3GAL3_ENST00000361812.4_Missense_Mutation_p.R8H|ST3GAL3_ENST00000372372.2_Missense_Mutation_p.R8H|ST3GAL3_ENST00000372362.2_Missense_Mutation_p.R8H|ST3GAL3_ENST00000372377.4_Missense_Mutation_p.R8H|ST3GAL3_ENST00000347631.2_Missense_Mutation_p.R8H|ST3GAL3_ENST00000335430.6_Missense_Mutation_p.R8H|ST3GAL3_ENST00000361746.4_Missense_Mutation_p.R8H|ST3GAL3_ENST00000372366.1_Missense_Mutation_p.R8H|ST3GAL3_ENST00000330208.2_Missense_Mutation_p.R8H|ST3GAL3_ENST00000372368.2_Missense_Mutation_p.R8H|ST3GAL3_ENST00000361400.4_Missense_Mutation_p.R8H|ST3GAL3_ENST00000372365.1_Missense_Mutation_p.R8H|ST3GAL3_ENST00000351035.3_Missense_Mutation_p.R8H|ST3GAL3_ENST00000353126.3_Missense_Mutation_p.R8H|ST3GAL3_ENST00000332628.6_Missense_Mutation_p.R8H|ST3GAL3_ENST00000372367.1_Missense_Mutation_p.R8H|ST3GAL3_ENST00000531993.1_Missense_Mutation_p.R8H|ST3GAL3_ENST00000533933.1_Missense_Mutation_p.R8H	p.R8H	NM_174963.3	NP_777623.2	Q11203	SIAT6_HUMAN			2	200	+	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0518)	8					A9Z1W2|D3DPX8|Q5T4W9|Q5T4X0|Q5T4X7|Q5T4X8|Q5T4X9|Q5T4Y0|Q5T4Y2|Q5T4Y3|Q5T4Y4|Q86UR6|Q86UR7|Q86UR8|Q86UR9|Q86US0|Q86US1|Q86US2|Q8IX41|Q8IX42|Q8IX43|Q8IX44|Q8IX45|Q8IX46|Q8IX47|Q8IX48|Q8IX49|Q8IX50|Q8IX51|Q8IX52|Q8IX53|Q8IX54|Q8IX55|Q8IX56|Q8IX57|Q8IX58	Missense_Mutation	SNP	ENST00000361392.4	37	c.23G>A	CCDS492.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.205762	0.79127	.	.	ENSG00000126091	ENST00000361392;ENST00000361400;ENST00000262915;ENST00000372375;ENST00000351035;ENST00000372374;ENST00000353126;ENST00000545417;ENST00000330208;ENST00000335430;ENST00000372377;ENST00000347631;ENST00000361812;ENST00000372362;ENST00000531451;ENST00000372369;ENST00000361746;ENST00000372367;ENST00000372366;ENST00000372365;ENST00000372368;ENST00000372372;ENST00000528371;ENST00000531993;ENST00000533933;ENST00000332628;ENST00000531816	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.80738	0.37;0.66;0.21;0.06;0.14;0.36;-0.38;-1.38;-1.39;0.02;-1.41;0.35;-1.38;-1.39;-1.36;0.02;0.21;-0.46;-0.4;-0.39;0.06;0.14;0.14;0.01;-0.38;0.36;-1.33	5.94	5.94	0.96194	.	0.272357	0.40728	N	0.001027	D	0.84392	0.5462	N	0.24115	0.695	0.53688	D	0.999978	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.89917	0.999;0.999;0.999;0.999;0.999;0.999;0.999;0.999;1.0;1.0;0.999;0.999;0.999;0.999;0.998;1.0;0.999;0.998	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.83275	0.989;0.984;0.984;0.984;0.994;0.984;0.984;0.984;0.993;0.996;0.984;0.989;0.984;0.989;0.964;0.996;0.989;0.964	D	0.83927	0.0304	10	0.42905	T	0.14	.	19.977	0.97313	0.0:0.0:1.0:0.0	.	8;8;8;8;8;8;8;8;8;8;8;8;8;8;8;8;8;8	Q11203-22;Q11203-5;Q11203-21;Q11203-17;Q11203-24;Q11203-16;Q11203-23;Q11203-7;Q11203-12;Q5T4Y1;Q11203-8;Q11203-19;Q11203-15;Q11203-13;Q11203;Q11203-4;Q11203-18;Q5T4W8	.;.;.;.;.;.;.;.;.;.;.;.;.;.;SIAT6_HUMAN;.;.;.	H	8	ENSP00000355341:R8H;ENSP00000354748:R8H;ENSP00000262915:R8H;ENSP00000361450:R8H;ENSP00000316999:R8H;ENSP00000361449:R8H;ENSP00000330463:R8H;ENSP00000439634:R8H;ENSP00000333494:R8H;ENSP00000335633:R8H;ENSP00000361452:R8H;ENSP00000317192:R8H;ENSP00000355201:R8H;ENSP00000361437:R8H;ENSP00000435603:R8H;ENSP00000361444:R8H;ENSP00000354657:R8H;ENSP00000361442:R8H;ENSP00000361441:R8H;ENSP00000361440:R8H;ENSP00000361443:R8H;ENSP00000361447:R8H;ENSP00000434876:R8H;ENSP00000432682:R8H;ENSP00000432965:R8H;ENSP00000329755:R8H;ENSP00000434378:R8H	ENSP00000262915:R8H	R	+	2	0	ST3GAL3	43974543	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.891000	0.75639	2.814000	0.96858	0.563000	0.77884	CGC		0.413	ST3GAL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019964.1	NM_174963		11	159	0	0	0	1	0	11	159					A	44201956	G	A	44201956	3	1	435	1	0	0	0	0	1	0	0	0	15215	1087	38	1	25	1	ST3GAL3	1	44201956	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	115319	44201956	205048665	302	21227											
ATP6V0B	533	broad.mit.edu	37	chr1	44442475	44442475	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccacagaccccaaggccatcGgccatcggaactaccatgca	12	4	8	17	2	0	1	0	0	0	1	2	2	0	2	6	3	3	1	6	3	3	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:44442475G>A	ENST00000472174.2	+	6	772	c.379G>A	c.(379-381)Ggc>Agc	p.G127S	ATP6V0B_ENST00000471859.2_Missense_Mutation_p.G174S|B4GALT2_ENST00000434555.2_5'Flank|ATP6V0B_ENST00000236067.4_Missense_Mutation_p.G80S|ATP6V0B_ENST00000532642.1_Missense_Mutation_p.G127S|ATP6V0B_ENST00000472277.1_3'UTR|B4GALT2_ENST00000372324.1_5'Flank|ATP6V0B_ENST00000498664.1_Missense_Mutation_p.G80S	NM_004047.3	NP_004038.1	Q99437	VATO_HUMAN	ATPase, H+ transporting, lysosomal 21kDa, V0 subunit b	127					ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|proton transport (GO:0015992)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|phagocytic vesicle membrane (GO:0030670)|proton-transporting V-type ATPase, V0 domain (GO:0033179)|vacuole (GO:0005773)	hydrogen ion transmembrane transporter activity (GO:0015078)|transporter activity (GO:0005215)			breast(2)|kidney(1)|large_intestine(3)|lung(3)	9	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)				CAAGGCCATCGGCCATCGGAA	0.527																																						ENST00000532642.1																			0				breast(2)|kidney(1)|large_intestine(3)|lung(3)	9						c.(379-381)Ggc>Agc		ATPase, H+ transporting, lysosomal 21kDa, V0 subunit b							67	64	65					1																	44442475		2203	4300	6503	SO:0001583	missense	533				ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	endosome membrane|integral to membrane|proton-transporting V-type ATPase, V0 domain|vacuolar membrane	hydrogen ion transmembrane transporter activity	g.chr1:44442475G>A	BC000423	CCDS505.1, CCDS41315.1, CCDS72772.1	1p32.3	2010-04-21	2006-01-20	2002-05-10	ENSG00000117410	ENSG00000117410		"ATPases / V-type"	861	protein-coding gene	gene with protein product		603717	"ATPase, H+ transporting, lysosomal (vacuolar proton pump) 21kD", "ATPase, H+ transporting, lysosomal 21kDa, V0 subunit c''"	ATP6F		9653649	Standard	XM_005270944		Approved	VMA16, HATPL	uc001cld.3	Q99437	OTTHUMG00000008298	ENST00000472174.2:c.379G>A	1.37:g.44442475G>A	ENSP00000431605:p.Gly127Ser					ATP6V0B_ENST00000471859.2_Missense_Mutation_p.G174S|ATP6V0B_ENST00000472277.1_3'UTR|ATP6V0B_ENST00000472174.2_Missense_Mutation_p.G127S|ATP6V0B_ENST00000236067.4_Missense_Mutation_p.G80S|ATP6V0B_ENST00000498664.1_Missense_Mutation_p.G80S	p.G127S			Q99437	VATO_HUMAN			6	476	+	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)	127					D3DPY5|Q6IB32	Missense_Mutation	SNP	ENST00000472174.2	37	c.379G>A	CCDS505.1	.	.	.	.	.	.	.	.	.	.	G	12.07	1.827252	0.32329	.	.	ENSG00000117410	ENST00000472505;ENST00000472174;ENST00000532642;ENST00000236067;ENST00000471859;ENST00000498664	.	.	.	5.25	5.25	0.73442	.	0.000000	0.85682	D	0.000000	T	0.26955	0.0660	N	0.02802	-0.49	0.80722	D	1	B;B	0.14805	0.001;0.011	B;B	0.10450	0.001;0.005	T	0.23511	-1.0186	9	0.05721	T	0.95	-8.0459	16.6079	0.84836	0.0:0.0:1.0:0.0	.	127;127	Q99437;E9PNL3	VATO_HUMAN;.	S	80;127;127;80;174;80	.	ENSP00000236067:G80S	G	+	1	0	ATP6V0B	44215062	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	8.336000	0.90033	2.447000	0.82792	0.655000	0.94253	GGC		0.527	ATP6V0B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022854.2	NM_004047		17	20	0	0	0	1	0	17	20					A	44442475	G	A	44442475	3	1	435	1	0	0	0	0	1	0	0	0	1171	1116	39	2	401	2	ATP6V0B	1	44442475	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	240519	44442475	204808146	303	21228											
CCDC24	149473	broad.mit.edu	37	chr1	44457979	44457979	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttctcttctggcaccaccGcctctcctaaaggacctctt	6	13	5	17	1	5	0	0	0	5	0	7	1	5	1	5	2	0	1	5	2	2	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:44457979G>A	ENST00000372318.3	+	3	393	c.222G>A	c.(220-222)ccG>ccA	p.P74P	SLC6A9_ENST00000372307.3_Intron|SLC6A9_ENST00000372306.3_Intron|CCDC24_ENST00000479055.1_Intron	NM_152499.1	NP_689712.1	Q8N4L8	CCD24_HUMAN	coiled-coil domain containing 24	74										endometrium(3)|large_intestine(2)|lung(3)|stomach(1)	9	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0821)				TGGCACCACCGCCTCTCCTAA	0.642																																						ENST00000372318.3																			0				endometrium(3)|large_intestine(2)|lung(3)|stomach(1)	9						c.(220-222)ccG>ccA		coiled-coil domain containing 24							75	88	84					1																	44457979		2203	4300	6503	SO:0001819	synonymous_variant	149473							g.chr1:44457979G>A		CCDS507.1	1p34.1	2008-02-05			ENSG00000159214	ENSG00000159214			28688	protein-coding gene	gene with protein product						12477932	Standard	NM_152499		Approved	MGC45441	uc001clj.3	Q8N4L8	OTTHUMG00000008299	ENST00000372318.3:c.222G>A	1.37:g.44457979G>A						SLC6A9_ENST00000372307.3_Intron|CCDC24_ENST00000486064.1_3'UTR|SLC6A9_ENST00000372306.3_Intron	p.P74P	NM_152499.1	NP_689712.1	Q8N4L8	CCD24_HUMAN			3	393	+	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0821)	74					Q6RWT2	Silent	SNP	ENST00000372318.3	37	c.222G>A	CCDS507.1																																																																																				0.642	CCDC24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022865.1	NM_152499		38	62	0	0	0	1	0	38	62					A	44457979	G	A	44457979	2	1	435	1	0	0	0	0	0	0	0	1	2799	1074	38	1		1	CCDC24	1	44457979	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	15504	44457979	204792642	304	21229											
SLC6A9	6536	broad.mit.edu	37	chr1	44463274	44463274	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctgcccacaatggggatctgCgccttgtccgggtgcagtgg	5	9	15	12	2	1	0	0	0	1	0	2	1	2	1	3	4	3	1	3	4	1	1	rs201082592		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:44463274C>T	ENST00000360584.2	-	14	2255	c.2064G>A	c.(2062-2064)gcG>gcA	p.A688A	SLC6A9_ENST00000372307.3_Intron|SLC6A9_ENST00000372306.3_Intron|SLC6A9_ENST00000357730.2_Silent_p.A634A|SLC6A9_ENST00000475075.2_Silent_p.A504A|SLC6A9_ENST00000372310.3_Silent_p.A615A	NM_201649.3	NP_964012.2	P48067	SC6A9_HUMAN	solute carrier family 6 (neurotransmitter transporter, glycine), member 9	688					transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	glycine:sodium symporter activity (GO:0015375)|neurotransmitter:sodium symporter activity (GO:0005328)	p.A688A(1)|p.A615A(1)		endometrium(3)|large_intestine(8)|lung(7)|ovary(1)|skin(1)|urinary_tract(2)	22	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)			Glycine(DB00145)	TGGGGATCTGCGCCTTGTCCG	0.692													C|||	1	0.000199681	0	0.0014	5008	,	,		16179	0		0	False		,,,				2504	0					ENST00000372310.3																			2	Substitution - coding silent(2)	p.A688A(1)|p.A615A(1)	large_intestine(2)	endometrium(3)|large_intestine(8)|lung(7)|ovary(1)|skin(1)|urinary_tract(2)	22						c.(1843-1845)gcG>gcA		solute carrier family 6 (neurotransmitter transporter, glycine), member 9	Glycine(DB00145)						66	78	74					1																	44463274		2203	4300	6503	SO:0001819	synonymous_variant	6536					integral to plasma membrane|membrane fraction	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity	g.chr1:44463274C>T	S70609	CCDS30695.1, CCDS41316.1, CCDS41317.1	1p33	2013-05-22			ENSG00000196517	ENSG00000196517		"Solute carriers"	11056	protein-coding gene	gene with protein product		601019				8183239, 7587377	Standard	NM_006934		Approved	GLYT1	uc001cll.4	P48067	OTTHUMG00000008294	ENST00000360584.2:c.2064G>A	1.37:g.44463274C>T						SLC6A9_ENST00000357730.2_Silent_p.A634A|SLC6A9_ENST00000475075.2_Silent_p.A504A|SLC6A9_ENST00000360584.2_Silent_p.A688A|SLC6A9_ENST00000372307.3_Intron|SLC6A9_ENST00000372306.3_Intron	p.A615A	NM_001024845.2	NP_001020016.1	P48067	SC6A9_HUMAN			14	2010	-	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)	688					A6NDH1|A6NII2|A6NNZ8|Q5TAB8|Q5TAB9|Q5TAC0	Silent	SNP	ENST00000360584.2	37	c.1845G>A	CCDS41317.1																																																																																				0.692	SLC6A9-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000022825.2	NM_201649		16	76	0	0	0	1	0	16	76					T	44463274	C	T	44463274	2	4	435	1	0	0	0	0	0	0	0	1	14691	755	27	1		1	SLC6A9	1	44463274	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	5295	44463274	204787347	305	21230											
RNF220	55182	broad.mit.edu	37	chr1	45091982	45091982	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttccagtccctcctgttgtCtgcttccatcaagagggaag	7	12	9	13	0	2	1	1	0	1	1	6	2	6	2	4	1	1	2	4	1	2	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:45091982C>A	ENST00000355387.2	+	5	1268	c.818C>A	c.(817-819)tCt>tAt	p.S273Y	RNF220_ENST00000372247.2_Missense_Mutation_p.S273Y|RNF220_ENST00000361799.2_Missense_Mutation_p.S273Y|RNF220_ENST00000443020.2_Missense_Mutation_p.S34Y			Q5VTB9	RN220_HUMAN	ring finger protein 220	273					protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(6)|kidney(1)|large_intestine(3)|lung(13)|ovary(2)|skin(2)|urinary_tract(2)	29						CTCCTGTTGTCTGCTTCCATC	0.542																																						ENST00000355387.2																			0				endometrium(6)|kidney(1)|large_intestine(3)|lung(13)|ovary(2)|skin(2)|urinary_tract(2)	29						c.(817-819)tCt>tAt		ring finger protein 220							102	89	93					1																	45091982		2203	4300	6503	SO:0001583	missense	55182				protein autoubiquitination	cytoplasm	ubiquitin-protein ligase activity|zinc ion binding	g.chr1:45091982C>A	AK056424	CCDS510.1	1p34.1	2008-06-13	2008-06-13	2008-06-13	ENSG00000187147	ENSG00000187147		"RING-type (C3HC4) zinc fingers"	25552	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 164"	C1orf164		11042152	Standard	NM_018150		Approved	FLJ10597	uc001clv.1	Q5VTB9	OTTHUMG00000007697	ENST00000355387.2:c.818C>A	1.37:g.45091982C>A	ENSP00000347548:p.Ser273Tyr					RNF220_ENST00000361799.2_Missense_Mutation_p.S273Y|RNF220_ENST00000443020.2_Missense_Mutation_p.S34Y|RNF220_ENST00000372247.2_Missense_Mutation_p.S273Y	p.S273Y			Q5VTB9	RN220_HUMAN			5	1268	+			273					B3KPJ3|B4DLZ9|E9PCS1|Q4KMX2|Q9NVP6	Missense_Mutation	SNP	ENST00000355387.2	37	c.818C>A	CCDS510.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.164191	0.78339	.	.	ENSG00000187147	ENST00000355387;ENST00000416840;ENST00000361799;ENST00000453887;ENST00000372247;ENST00000443020	D;D;D;D	0.89196	-2.48;-2.48;-2.48;-2.48	5.34	4.41	0.53225	.	0.063724	0.64402	D	0.000003	D	0.92120	0.7502	L	0.47716	1.5	0.58432	D	0.999999	P;D	0.61697	0.929;0.99	P;D	0.69142	0.624;0.962	D	0.93043	0.6459	10	0.66056	D	0.02	.	16.6462	0.85177	0.0:0.8704:0.1296:0.0	.	34;273	B4DLZ9;Q5VTB9	.;RN220_HUMAN	Y	273;12;273;273;273;34	ENSP00000347548:S273Y;ENSP00000354872:S273Y;ENSP00000361321:S273Y;ENSP00000414640:S34Y	ENSP00000347548:S273Y	S	+	2	0	RNF220	44864569	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.286000	0.58995	1.592000	0.50018	0.650000	0.86243	TCT		0.542	RNF220-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000020683.4	NM_018150		10	31	1	0	7.48243e-07	1	7.8103e-07	10	31					A	45091982	C	A	45091982	3	1	435	1	0	0	0	0	1	0	0	0	13483	913	32	5	832	5	RNF220	1	45091982	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	628708	45091982	204158639	306	21231											
KIF2C	11004	broad.mit.edu	37	chr1	45232618	45232618	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccaagcatttctcagccctgCgaggtgggtgtggctggatg	6	10	15	10	1	1	0	1	0	1	0	2	2	1	1	2	4	3	2	2	4	1	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:45232618C>T	ENST00000372224.4	+	20	2205	c.2092C>T	c.(2092-2094)Cga>Tga	p.R698*	KIF2C_ENST00000372218.4_Nonsense_Mutation_p.R657*|RP11-269F19.2_ENST00000428791.1_RNA|KIF2C_ENST00000372217.1_Nonsense_Mutation_p.R644*|KIF2C_ENST00000372222.3_Nonsense_Mutation_p.R585*	NM_006845.3	NP_006836.2	Q99661	KIF2C_HUMAN	kinesin family member 2C	698				R -> P (in Ref. 8; AAH08764). {ECO:0000305}.	antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cell proliferation (GO:0008283)|chromosome segregation (GO:0007059)|establishment or maintenance of microtubule cytoskeleton polarity (GO:0030951)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|regulation of chromosome segregation (GO:0051983)	chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|centromeric DNA binding (GO:0019237)|microtubule motor activity (GO:0003777)|microtubule plus-end binding (GO:0051010)			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|ovary(1)|skin(1)|urinary_tract(1)	34	Acute lymphoblastic leukemia(166;0.155)					CTCAGCCCTGCGAGGTGGGTG	0.602																																						ENST00000372217.1																			0				breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|ovary(1)|skin(1)|urinary_tract(1)	34						c.(1930-1932)Cga>Tga		kinesin family member 2C							86	88	87					1																	45232618		2203	4300	6503	SO:0001587	stop_gained	11004				blood coagulation|cell division|cell proliferation|chromosome segregation|establishment or maintenance of microtubule cytoskeleton polarity|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|kinesin complex|microtubule|nucleus	ATP binding|centromeric DNA binding|microtubule motor activity|microtubule plus-end binding	g.chr1:45232618C>T	U63743	CCDS512.1, CCDS72774.1	1p34.1	2014-01-21	2003-01-13	2003-01-17	ENSG00000142945	ENSG00000142945		"Kinesins"	6393	protein-coding gene	gene with protein product		604538	"kinesin-like 6 (mitotic centromere-associated kinesin)"	KNSL6		9434124	Standard	NM_006845		Approved	MCAK, CT139	uc001cmg.4	Q99661	OTTHUMG00000008416	ENST00000372224.4:c.2092C>T	1.37:g.45232618C>T	ENSP00000361298:p.Arg698*					KIF2C_ENST00000372222.3_Nonsense_Mutation_p.R585*|KIF2C_ENST00000372224.4_Nonsense_Mutation_p.R698*|KIF2C_ENST00000372218.4_Nonsense_Mutation_p.R657*|RP11-269F19.2_ENST00000428791.1_RNA	p.R644*			Q99661	KIF2C_HUMAN			19	2281	+	Acute lymphoblastic leukemia(166;0.155)		698					B3ITR9|Q5JR88|Q6ICU1|Q96C18|Q96HB8|Q9BWV8	Nonsense_Mutation	SNP	ENST00000372224.4	37	c.1930C>T	CCDS512.1	.	.	.	.	.	.	.	.	.	.	C	19.85	3.904159	0.72754	.	.	ENSG00000142945	ENST00000372224;ENST00000372218;ENST00000372222;ENST00000372217	.	.	.	5.05	5.05	0.67936	.	0.775342	0.11946	N	0.514174	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.0221	0.36206	0.2042:0.6594:0.1364:0.0	.	.	.	.	X	698;657;585;644	.	ENSP00000361291:R644X	R	+	1	2	KIF2C	45005205	0.277000	0.24220	0.873000	0.34254	0.105000	0.19272	0.733000	0.26087	2.508000	0.84585	0.462000	0.41574	CGA		0.602	KIF2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023180.1	NM_006845		32	57	0	0	0	1	0	32	57					T	45232618	C	T	45232618	4	4	435	1	0	0	0	0	0	1	0	0	8299	760	27	1	2170	1	KIF2C	1	45232618	Nonsense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	140636	45232618	204018003	307	21232											
PTCH2	8643	broad.mit.edu	37	chr1	45288094	45288094	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcagctgctctttcacccaGtggctggacctggtcccctg	4	12	10	15	0	3	0	2	0	1	0	4	1	4	1	4	3	2	3	4	3	0	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:45288094G>A	ENST00000372192.3	-	22	3735	c.3605C>T	c.(3604-3606)aCt>aTt	p.T1202I	PTCH2_ENST00000447098.2_Intron|RNU5E-6P_ENST00000365574.1_RNA	NM_003738.4	NP_003729.3	Q9Y6C5	PTC2_HUMAN	patched 2	1202					epidermis development (GO:0008544)|hair cycle (GO:0042633)|negative regulation of smoothened signaling pathway (GO:0045879)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	hedgehog family protein binding (GO:0097108)|hedgehog receptor activity (GO:0008158)|smoothened binding (GO:0005119)			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	50	Acute lymphoblastic leukemia(166;0.155)					CTTTCACCCAGTGGCTGGACC	0.622									Basal Cell Nevus syndrome																													ENST00000372192.3																			0				NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	50						c.(3604-3606)aCt>aTt		patched 2							44	48	47					1																	45288094		2203	4300	6503	SO:0001583	missense	8643	Basal Cell Nevus syndrome	Familial Cancer Database	Gorlin syndrome, Gorlin-Golz syndrome, Naevoid Basal Cell Carcinoma syndrome, NBCCS	protein complex assembly|spermatogenesis	integral to plasma membrane	hedgehog receptor activity	g.chr1:45288094G>A	AF091501	CCDS516.1, CCDS53312.1	1p34.1	2010-06-24	2010-06-24		ENSG00000117425	ENSG00000117425			9586	protein-coding gene	gene with protein product		603673	"patched (Drosophila) homolog 2", "patched homolog 2 (Drosophila)"			9811851, 9931336	Standard	NM_003738		Approved		uc010olf.2	Q9Y6C5	OTTHUMG00000008490	ENST00000372192.3:c.3605C>T	1.37:g.45288094G>A	ENSP00000361266:p.Thr1202Ile					PTCH2_ENST00000447098.2_Intron	p.T1202I	NM_003738.4	NP_003729.3	Q9Y6C5	PTC2_HUMAN			22	3735	-	Acute lymphoblastic leukemia(166;0.155)		1202					O95341|O95856|Q53Z57|Q5QP87|Q6UX14	Missense_Mutation	SNP	ENST00000372192.3	37	c.3605C>T	CCDS516.1	.	.	.	.	.	.	.	.	.	.	g	18.28	3.589580	0.66105	.	.	ENSG00000117425	ENST00000372192	D	0.92446	-3.04	4.96	4.0	0.46444	.	1.395140	0.05215	N	0.507480	D	0.84701	0.5530	N	0.08118	0	0.09310	N	0.999997	B	0.33073	0.396	B	0.31614	0.133	T	0.75947	-0.3138	10	0.87932	D	0	-0.5648	10.6718	0.45762	0.0:0.0:0.8103:0.1897	.	1202	Q9Y6C5	PTC2_HUMAN	I	1202	ENSP00000361266:T1202I	ENSP00000361266:T1202I	T	-	2	0	PTCH2	45060681	0.194000	0.23325	0.010000	0.14722	0.393000	0.30537	3.356000	0.52269	2.576000	0.86940	0.552000	0.68991	ACT		0.622	PTCH2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000023428.4	NM_003738		24	19	0	0	0	1	0	24	19					A	45288094	G	A	45288094	3	1	435	1	0	0	0	0	1	0	0	0	12731	1029	36	3	30	3	PTCH2	1	45288094	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	55476	45288094	203962527	308	21233											
HECTD3	79654	broad.mit.edu	37	chr1	45469960	45469960	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acagtgacctctggatccccAcacactttcttctccaactc	9	11	4	17	0	3	1	0	1	3	0	6	2	4	2	4	1	1	0	4	1	1	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:45469960A>G	ENST00000372172.4	-	17	2303	c.2232T>C	c.(2230-2232)tgT>tgC	p.C744C	HECTD3_ENST00000486132.1_5'UTR|HECTD3_ENST00000372168.3_Silent_p.C354C	NM_024602.5	NP_078878.3	Q5T447	HECD3_HUMAN	HECT domain containing E3 ubiquitin protein ligase 3	744	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|stomach(1)	28	Acute lymphoblastic leukemia(166;0.155)					CTGGATCCCCACACACTTTCT	0.612																																						ENST00000372172.4																			0				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|stomach(1)	28						c.(2230-2232)tgT>tgC		HECT domain containing E3 ubiquitin protein ligase 3							109	111	110					1																	45469960		2124	4262	6386	SO:0001819	synonymous_variant	79654				proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm	ubiquitin-protein ligase activity	g.chr1:45469960A>G	BC019105	CCDS41318.1	1p34.1	2012-02-23	2012-02-23		ENSG00000126107	ENSG00000126107			26117	protein-coding gene	gene with protein product			"HECT domain containing 3"			12477932	Standard	NM_024602		Approved	FLJ21156	uc009vxk.3	Q5T447	OTTHUMG00000008587	ENST00000372172.4:c.2232T>C	1.37:g.45469960A>G						HECTD3_ENST00000372168.3_Silent_p.C354C|HECTD3_ENST00000486132.1_5'UTR	p.C744C	NM_024602.5	NP_078878.3	Q5T447	HECD3_HUMAN			17	2303	-	Acute lymphoblastic leukemia(166;0.155)		744			HECT.		B3KPV7|B3KRH4|Q5T448|Q9H783	Silent	SNP	ENST00000372172.4	37	c.2232T>C	CCDS41318.1																																																																																				0.612	HECTD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023734.1	NM_024602		24	39	0	0	0	1	0	24	39					G	45469960	A	G	45469960	2	3	435	1	0	0	0	0	0	0	0	1	7041	157	6	4		4	HECTD3	1	45469960	Silent	SNP	A	TCGA-XK-AAIW-01A-11D-A41K-08	181866	45469960	203780661	309	21234											
HECTD3	79654	broad.mit.edu	37	chr1	45475738	45475738	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctccttgcccaggtggtcatAcaagaagtggatcaggtcct	9	10	11	11	0	2	1	2	0	0	1	4	2	4	2	3	4	2	0	3	4	3	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:45475738A>G	ENST00000372172.4	-	4	750	c.679T>C	c.(679-681)Tat>Cat	p.Y227H	HECTD3_ENST00000372168.3_5'Flank|UROD_ENST00000246337.4_5'Flank	NM_024602.5	NP_078878.3	Q5T447	HECD3_HUMAN	HECT domain containing E3 ubiquitin protein ligase 3	227	DOC. {ECO:0000255|PROSITE- ProRule:PRU00614}.				proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|stomach(1)	28	Acute lymphoblastic leukemia(166;0.155)					AGGTGGTCATACAAGAAGTGG	0.572																																						ENST00000372172.4																			0				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|stomach(1)	28						c.(679-681)Tat>Cat		HECT domain containing E3 ubiquitin protein ligase 3							135	145	141					1																	45475738		2158	4240	6398	SO:0001583	missense	79654				proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm	ubiquitin-protein ligase activity	g.chr1:45475738A>G	BC019105	CCDS41318.1	1p34.1	2012-02-23	2012-02-23		ENSG00000126107	ENSG00000126107			26117	protein-coding gene	gene with protein product			"HECT domain containing 3"			12477932	Standard	NM_024602		Approved	FLJ21156	uc009vxk.3	Q5T447	OTTHUMG00000008587	ENST00000372172.4:c.679T>C	1.37:g.45475738A>G	ENSP00000361245:p.Tyr227His						p.Y227H	NM_024602.5	NP_078878.3	Q5T447	HECD3_HUMAN			4	750	-	Acute lymphoblastic leukemia(166;0.155)		227			DOC.		B3KPV7|B3KRH4|Q5T448|Q9H783	Missense_Mutation	SNP	ENST00000372172.4	37	c.679T>C	CCDS41318.1	.	.	.	.	.	.	.	.	.	.	A	12.75	2.032575	0.35893	.	.	ENSG00000126107	ENST00000372172	T	0.64438	-0.1	4.23	4.23	0.50019	Anaphase-promoting complex, subunit 10/DOC domain (1);Galactose-binding domain-like (1);	0.000000	0.85682	D	0.000000	T	0.50990	0.1648	L	0.43152	1.355	0.80722	D	1	B	0.14805	0.011	B	0.09377	0.004	T	0.50625	-0.8806	10	0.42905	T	0.14	.	9.2557	0.37581	0.9134:0.0:0.0866:0.0	.	227	Q5T447	HECD3_HUMAN	H	227	ENSP00000361245:Y227H	ENSP00000361245:Y227H	Y	-	1	0	HECTD3	45248325	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.517000	0.73759	1.918000	0.55548	0.533000	0.62120	TAT		0.572	HECTD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023734.1	NM_024602		19	23	0	0	0	1	0	19	23					G	45475738	A	G	45475738	3	3	435	1	0	0	0	0	1	0	0	0	7041	391	14	4	1978	4	HECTD3	1	45475738	Missense_Mutation	SNP	A	TCGA-XK-AAIW-01A-11D-A41K-08	5778	45475738	203774883	310	21235											
ZSWIM5	57643	broad.mit.edu	37	chr1	45484894	45484894	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgaggcgcaggatagtggtGtgggatacggctgtggcagc	7	8	19	7	2	0	1	0	1	0	0	0	3	0	3	0	6	2	3	0	6	2	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:45484894G>A	ENST00000359600.5	-	14	2995	c.2790C>T	c.(2788-2790)caC>caT	p.H930H		NM_020883.1	NP_065934.1	Q9P217	ZSWM5_HUMAN	zinc finger, SWIM-type containing 5	930						extracellular space (GO:0005615)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|liver(1)|lung(13)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	28	Acute lymphoblastic leukemia(166;0.155)					GGATAGTGGTGTGGGATACGG	0.557											OREG0013450	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000359600.5																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|liver(1)|lung(13)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	28						c.(2788-2790)caC>caT		zinc finger, SWIM-type containing 5							44	46	46					1																	45484894		1985	4141	6126	SO:0001819	synonymous_variant	57643						zinc ion binding	g.chr1:45484894G>A	AB040944	CCDS41319.1	1p34.1	2010-06-16			ENSG00000162415	ENSG00000162415		"Zinc fingers, SWIM-type"	29299	protein-coding gene	gene with protein product						10819331	Standard	NM_020883		Approved	KIAA1511	uc001cnd.2	Q9P217	OTTHUMG00000008950	ENST00000359600.5:c.2790C>T	1.37:g.45484894G>A			OREG0013450	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	932		p.H930H	NM_020883.1	NP_065934.1	Q9P217	ZSWM5_HUMAN			14	2995	-	Acute lymphoblastic leukemia(166;0.155)		930					Q5SXQ9	Silent	SNP	ENST00000359600.5	37	c.2790C>T	CCDS41319.1																																																																																				0.557	ZSWIM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024823.2	XM_046581		17	16	0	0	0	1	0	17	16					A	45484894	G	A	45484894	2	1	435	1	0	0	0	0	0	0	0	1	18241	1368	48	3		3	ZSWIM5	1	45484894	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	9156	45484894	203765727	311	21236											
ZSWIM5	57643	broad.mit.edu	37	chr1	45485814	45485814	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agggttgataaggtcatccgCatcacctgggcacaaaagag	13	7	12	9	1	2	2	2	1	0	1	3	2	3	2	2	3	0	3	2	3	3	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:45485814C>T	ENST00000359600.5	-	13	2824	c.2619G>A	c.(2617-2619)atG>atA	p.M873I		NM_020883.1	NP_065934.1	Q9P217	ZSWM5_HUMAN	zinc finger, SWIM-type containing 5	873						extracellular space (GO:0005615)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|liver(1)|lung(13)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	28	Acute lymphoblastic leukemia(166;0.155)					AGGTCATCCGCATCACCTGGG	0.517																																						ENST00000359600.5																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|liver(1)|lung(13)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	28						c.(2617-2619)atG>atA		zinc finger, SWIM-type containing 5							80	80	80					1																	45485814		2039	4173	6212	SO:0001583	missense	57643						zinc ion binding	g.chr1:45485814C>T	AB040944	CCDS41319.1	1p34.1	2010-06-16			ENSG00000162415	ENSG00000162415		"Zinc fingers, SWIM-type"	29299	protein-coding gene	gene with protein product						10819331	Standard	NM_020883		Approved	KIAA1511	uc001cnd.2	Q9P217	OTTHUMG00000008950	ENST00000359600.5:c.2619G>A	1.37:g.45485814C>T	ENSP00000352614:p.Met873Ile						p.M873I	NM_020883.1	NP_065934.1	Q9P217	ZSWM5_HUMAN			13	2824	-	Acute lymphoblastic leukemia(166;0.155)		873					Q5SXQ9	Missense_Mutation	SNP	ENST00000359600.5	37	c.2619G>A	CCDS41319.1	.	.	.	.	.	.	.	.	.	.	C	18.38	3.611974	0.66558	.	.	ENSG00000162415	ENST00000359600	T	0.47528	0.84	4.32	4.32	0.51571	.	0.037811	0.85682	D	0.000000	T	0.53190	0.1781	M	0.64997	1.995	0.58432	D	0.999999	B	0.31274	0.317	B	0.38194	0.267	T	0.60000	-0.7348	10	0.66056	D	0.02	-14.3088	18.1118	0.89538	0.0:1.0:0.0:0.0	.	873	Q9P217	ZSWM5_HUMAN	I	873	ENSP00000352614:M873I	ENSP00000352614:M873I	M	-	3	0	ZSWIM5	45258401	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.544000	0.67231	2.694000	0.91930	0.555000	0.69702	ATG		0.517	ZSWIM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024823.2	XM_046581		9	18	0	0	0	1	0	9	18					T	45485814	C	T	45485814	3	4	435	1	0	0	0	0	1	0	0	0	18241	710	25	3	946	3	ZSWIM5	1	45485814	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	920	45485814	203764807	312	21237											
HPDL	84842	broad.mit.edu	37	chr1	45792871	45792871	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atcgccttccacgtgcccgcCgggcagcccctagcccggaa	6	5	11	19	5	0	0	0	0	0	0	2	1	1	1	7	2	3	1	7	2	2	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:45792871C>T	ENST00000334815.3	+	1	327	c.51C>T	c.(49-51)gcC>gcT	p.A17A		NM_032756.2	NP_116145.1	Q96IR7	HPDL_HUMAN	4-hydroxyphenylpyruvate dioxygenase-like	17					aromatic amino acid family metabolic process (GO:0009072)		4-hydroxyphenylpyruvate dioxygenase activity (GO:0003868)|metal ion binding (GO:0046872)			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)	4	Acute lymphoblastic leukemia(166;0.155)					ACGTGCCCGCCGGGCAGCCCC	0.706																																						ENST00000334815.3																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(1)	4						c.(49-51)gcC>gcT		4-hydroxyphenylpyruvate dioxygenase-like							18	22	20					1																	45792871		2187	4267	6454	SO:0001819	synonymous_variant	84842				aromatic amino acid family metabolic process		4-hydroxyphenylpyruvate dioxygenase activity|metal ion binding	g.chr1:45792871C>T	BC007293	CCDS519.1	1p34.1	2008-02-05	2007-03-14	2007-03-14	ENSG00000186603	ENSG00000186603			28242	protein-coding gene	gene with protein product			"glyoxalase domain containing 1"	GLOXD1		12477932	Standard	NM_032756		Approved	MGC15668, 4-HPPD-L	uc001cne.3	Q96IR7	OTTHUMG00000007681	ENST00000334815.3:c.51C>T	1.37:g.45792871C>T							p.A17A	NM_032756.2	NP_116145.1	Q96IR7	HPDL_HUMAN			1	327	+	Acute lymphoblastic leukemia(166;0.155)		17					B2R9B0	Silent	SNP	ENST00000334815.3	37	c.51C>T	CCDS519.1																																																																																				0.706	HPDL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000020527.1	NM_032756		3	22	0	0	0	1	0	3	22					T	45792871	C	T	45792871	2	4	435	1	0	0	0	0	0	0	0	1	7333	639	23	2		2	HPDL	1	45792871	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	307057	45792871	203457750	313	21238											
TOE1	114034	broad.mit.edu	37	chr1	45806886	45806886	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taatttcgtggctgtggacaCggtgagagttgggaaacaag	11	10	15	5	2	0	1	0	1	0	1	1	4	0	3	0	4	1	2	0	4	3	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:45806886C>T	ENST00000372090.5	+	2	777	c.194C>T	c.(193-195)aCg>aTg	p.T65M	MUTYH_ENST00000531105.1_5'Flank|MUTYH_ENST00000528332.2_5'Flank|TOE1_ENST00000539779.1_Intron|MUTYH_ENST00000355498.2_5'Flank|MUTYH_ENST00000450313.1_5'Flank|TESK2_ENST00000486676.1_5'Flank|MUTYH_ENST00000448481.1_5'Flank|MUTYH_ENST00000488731.2_5'Flank|MUTYH_ENST00000372110.3_5'Flank|MUTYH_ENST00000528013.2_5'Flank|MUTYH_ENST00000372104.1_5'Flank|MUTYH_ENST00000372098.3_5'Flank|MUTYH_ENST00000354383.6_5'Flank|MUTYH_ENST00000456914.2_5'Flank|MUTYH_ENST00000372115.3_5'Flank|MUTYH_ENST00000372100.5_5'Flank|TOE1_ENST00000495703.1_3'UTR|MUTYH_ENST00000529984.1_5'Flank	NM_025077.3	NP_079353.3	Q96GM8	TOE1_HUMAN	target of EGR1, member 1 (nuclear)	65						nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	11	Acute lymphoblastic leukemia(166;0.155)					GCTGTGGACACGGTGAGAGTT	0.547																																						ENST00000372090.5																			0				breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	11						c.e2+1		target of EGR1, member 1 (nuclear)							114	102	106					1																	45806886		2203	4300	6503	SO:0001630	splice_region_variant	114034					nuclear speck|nucleolus	nucleic acid binding|zinc ion binding	g.chr1:45806886C>T		CCDS521.1	1p33	2011-02-03			ENSG00000132773	ENSG00000132773			15954	protein-coding gene	gene with protein product		613931				12562764	Standard	NM_025077		Approved		uc009vxq.3	Q96GM8	OTTHUMG00000007678	ENST00000372090.5:c.195+1C>T	1.37:g.45806886C>T						TOE1_ENST00000539779.1_Intron|TOE1_ENST00000495703.1_3'UTR	p.T65_splice	NM_025077.3	NP_079353.3	Q96GM8	TOE1_HUMAN			2	777	+	Acute lymphoblastic leukemia(166;0.155)		65					B4DEM6|Q6IA35|Q8IWN5|Q9H846	Splice_Site	SNP	ENST00000372090.5	37	c.195_splice	CCDS521.1	.	.	.	.	.	.	.	.	.	.	C	27.3	4.819469	0.90873	.	.	ENSG00000132773	ENST00000372090	T	0.25579	1.79	5.61	5.61	0.85477	Ribonuclease H-like (1);	0.000000	0.85682	D	0.000000	T	0.52191	0.1719	M	0.65498	2.005	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.81914	0.951;0.995	T	0.46148	-0.9212	10	0.52906	T	0.07	-10.9192	20.0018	0.97417	0.0:1.0:0.0:0.0	.	71;65	B4DP23;Q96GM8	.;TOE1_HUMAN	M	65	ENSP00000361162:T65M	ENSP00000361162:T65M	T	+	2	0	TOE1	45579473	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	6.706000	0.74649	2.793000	0.96121	0.655000	0.94253	ACG		0.547	TOE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000020517.1	NM_025077	Missense_Mutation	20	32	0	0	0	1	0	20	32					T	45806886	C	T	45806886	5	4	435	1	0	0	0	0	0	0	1	0	16346	550	19	1	200	1	TOE1	1	45806886	Splice_Site	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	14015	45806886	203443735	314	21239											
MMACHC	25974	broad.mit.edu	37	chr1	45974469	45974469	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttcttcaccctctccccagcGcatatcaggtgtgtgcatac	7	12	7	15	1	4	0	2	0	2	0	5	0	4	0	3	1	3	2	3	1	2	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:45974469G>A	ENST00000401061.4	+	4	711	c.431G>A	c.(430-432)cGc>cAc	p.R144H		NM_015506.2	NP_056321.2	Q9Y4U1	MMAC_HUMAN	methylmalonic aciduria (cobalamin deficiency) cblC type, with homocystinuria	144					cobalamin biosynthetic process (GO:0009236)|cobalamin metabolic process (GO:0009235)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	cobalamin binding (GO:0031419)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	8	Acute lymphoblastic leukemia(166;0.155)				Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TCTCCCCAGCGCATATCAGGT	0.572																																						ENST00000401061.4																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	8						c.e4-1		methylmalonic aciduria (cobalamin deficiency) cblC type, with homocystinuria	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)						68	68	68					1																	45974469		2035	4198	6233	SO:0001630	splice_region_variant	25974						cobalamin binding	g.chr1:45974469G>A		CCDS41324.1	1p34.1	2011-05-12			ENSG00000132763	ENSG00000132763			24525	protein-coding gene	gene with protein product		609831				16311595	Standard	NM_015506		Approved	DKFZP564I122, cblC	uc009vxv.3	Q9Y4U1	OTTHUMG00000007742	ENST00000401061.4:c.430-1G>A	1.37:g.45974469G>A							p.R144_splice	NM_015506.2	NP_056321.2	Q9Y4U1	MMAC_HUMAN			4	711	+	Acute lymphoblastic leukemia(166;0.155)		144					Q5T157|Q9BRQ7	Splice_Site	SNP	ENST00000401061.4	37	c.429_splice	CCDS41324.1	.	.	.	.	.	.	.	.	.	.	G	12.50	1.955379	0.34471	.	.	ENSG00000132763	ENST00000401061	D	0.95377	-3.69	5.57	3.26	0.37387	.	0.134244	0.64402	N	0.000003	D	0.87951	0.6307	N	0.12182	0.205	0.26507	N	0.974674	B	0.02656	0.0	B	0.01281	0.0	T	0.75720	-0.3219	10	0.23891	T	0.37	-15.4408	9.623	0.39732	0.8564:0.0:0.1436:0.0	.	144	Q9Y4U1	MMAC_HUMAN	H	144	ENSP00000383840:R144H	ENSP00000383840:R144H	R	+	2	0	MMACHC	45747056	1.000000	0.71417	1.000000	0.80357	0.882000	0.50991	4.160000	0.58164	0.425000	0.26087	-0.487000	0.04747	CGC		0.572	MMACHC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000020864.2	NM_015506	Missense_Mutation	3	13	0	0	0	1	0	3	13					A	45974469	G	A	45974469	5	1	435	1	0	0	0	0	0	0	1	0	9641	1101	38	1	445	1	MMACHC	1	45974469	Splice_Site	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	167583	45974469	203276152	315	21240											
TMEM69	51249	broad.mit.edu	37	chr1	46156748	46156748	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aataggggccagtatgcttcGcttcatccagaagttttctc	9	13	9	10	1	2	1	1	0	1	1	5	1	3	1	2	2	1	4	2	2	4	6	rs199639691		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:46156748G>A	ENST00000372025.4	+	2	1165	c.8G>A	c.(7-9)cGc>cAc	p.R3H	TMEM69_ENST00000496366.1_Intron	NM_016486.3	NP_057570.2	Q5SWH9	TMM69_HUMAN	transmembrane protein 69	3						integral component of membrane (GO:0016021)				kidney(3)|lung(4)|ovary(1)	8	Acute lymphoblastic leukemia(166;0.155)					AGTATGCTTCGCTTCATCCAG	0.438													G|||	1	0.000199681	0	0	5008	,	,		18496	0		0.001	False		,,,				2504	0					ENST00000372025.4																			0				kidney(3)|lung(4)|ovary(1)	8						c.(7-9)cGc>cAc		transmembrane protein 69		G	HIS/ARG	2,3824		0,2,1911	111	102	105		8	4.3	1	1		105	15,8243		0,15,4114	yes	missense	TMEM69	NM_016486.3	29	0,17,6025	AA,AG,GG		0.1816,0.0523,0.1407	benign	3/248	46156748	17,12067	1913	4129	6042	SO:0001583	missense	51249					integral to membrane		g.chr1:46156748G>A	BC040289, BC013608	CCDS41325.1	1p34.1	2008-02-05	2005-08-17	2005-08-17	ENSG00000159596	ENSG00000159596			28035	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 154"	C1orf154			Standard	NM_016486		Approved	FLJ21029	uc001cor.1	Q5SWH9	OTTHUMG00000040993	ENST00000372025.4:c.8G>A	1.37:g.46156748G>A	ENSP00000361095:p.Arg3His					TMEM69_ENST00000496366.1_Intron	p.R3H	NM_016486.3	NP_057570.2	Q5SWH9	TMM69_HUMAN			2	1165	+	Acute lymphoblastic leukemia(166;0.155)		3					Q3SWW5|Q7Z2G0|Q9P0P9	Missense_Mutation	SNP	ENST00000372025.4	37	c.8G>A	CCDS41325.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	4.460	0.085120	0.08583	5.23E-4	0.001816	ENSG00000159596	ENST00000372025	.	.	.	5.42	4.3	0.51218	.	0.199616	0.46442	N	0.000288	T	0.11836	0.0288	N	0.02247	-0.625	0.24898	N	0.992122	B	0.02656	0.0	B	0.01281	0.0	T	0.32955	-0.9887	9	0.02654	T	1	-2.9655	7.765	0.28974	0.902:0.0:0.098:0.0	.	3	Q5SWH9	TMM69_HUMAN	H	3	.	ENSP00000361095:R3H	R	+	2	0	TMEM69	45929335	1.000000	0.71417	1.000000	0.80357	0.884000	0.51177	2.604000	0.46274	1.005000	0.39183	-0.312000	0.09012	CGC		0.438	TMEM69-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098390.1	NM_016486		23	40	0	0	0	1	0	23	40					A	46156748	G	A	46156748	3	1	435	1	0	0	0	0	1	0	0	0	16195	1087	38	1	10	1	TMEM69	1	46156748	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	182279	46156748	203093873	316	21241											
MAST2	23139	broad.mit.edu	37	chr1	46494520	46494520	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccagtggactggtgggccatGggcattatcctgtatgagtt	7	12	14	8	0	0	1	0	1	0	0	1	2	1	2	3	4	0	3	3	4	2	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:46494520G>A	ENST00000361297.2	+	18	2416	c.2133G>A	c.(2131-2133)atG>atA	p.M711I	MAST2_ENST00000372009.2_Missense_Mutation_p.M641I	NM_015112.2	NP_055927.2			microtubule associated serine/threonine kinase 2											breast(1)|lung(3)|ovary(5)|stomach(2)	11	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.184)					GGTGGGCCATGGGCATTATCC	0.572																																						ENST00000361297.2																			0				breast(1)|lung(3)|ovary(5)|stomach(2)	11						c.(2131-2133)atG>atA		microtubule associated serine/threonine kinase 2							186	190	189					1																	46494520		2030	4203	6233	SO:0001583	missense	23139				regulation of interleukin-12 biosynthetic process|spermatid differentiation	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|phosphatase binding|protein serine/threonine kinase activity	g.chr1:46494520G>A	AB047005	CCDS41326.1	1p34.1	2008-02-05			ENSG00000086015	ENSG00000086015			19035	protein-coding gene	gene with protein product		612257					Standard	NM_015112		Approved	MAST205, KIAA0807	uc001cov.3	Q6P0Q8	OTTHUMG00000008007	ENST00000361297.2:c.2133G>A	1.37:g.46494520G>A	ENSP00000354671:p.Met711Ile					MAST2_ENST00000372009.2_Missense_Mutation_p.M641I|MAST2_ENST00000372008.1_Missense_Mutation_p.M596I	p.M711I	NM_015112.2	NP_055927.2	Q6P0Q8	MAST2_HUMAN			18	2416	+	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.184)		711			Protein kinase.			Missense_Mutation	SNP	ENST00000361297.2	37	c.2133G>A	CCDS41326.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.053892	0.75960	.	.	ENSG00000086015	ENST00000361297;ENST00000372009;ENST00000432341;ENST00000372008	T;T;T	0.22945	1.93;1.93;1.93	4.83	3.85	0.44370	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.043886	0.85682	D	0.000000	T	0.16300	0.0392	N	0.04043	-0.29	0.80722	D	1	B;B;B;P	0.37370	0.003;0.238;0.31;0.592	B;B;B;B	0.41174	0.004;0.101;0.056;0.349	T	0.25882	-1.0119	10	0.87932	D	0	-17.6874	14.938	0.70973	0.0:0.0:0.857:0.143	.	641;385;641;711	Q6P0Q8-2;E7EWL1;E7ERL6;Q6P0Q8	.;.;.;MAST2_HUMAN	I	711;641;385;596	ENSP00000354671:M711I;ENSP00000361079:M641I;ENSP00000361078:M596I	ENSP00000354671:M711I	M	+	3	0	MAST2	46267107	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.904000	0.87408	2.370000	0.80446	0.561000	0.74099	ATG		0.572	MAST2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021977.1	NM_015112		54	100	0	0	0	1	0	54	100					A	46494520	G	A	46494520	3	1	435	1	0	0	0	0	1	0	0	0	9325	1348	47	3	2203	3	MAST2	1	46494520	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	337772	46494520	202756101	317	21242											
POMGNT1	55624	broad.mit.edu	37	chr1	46661564	46661564	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcatcctcatgaggtgagtaCgtgtcaaacacacgttttgc	10	12	9	10	2	3	2	3	2	0	0	4	2	4	2	1	1	3	2	1	1	2	3	rs146121135	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:46661564C>T	ENST00000371984.3	-	6	610	c.453G>A	c.(451-453)acG>acA	p.T151T	POMGNT1_ENST00000371992.1_Silent_p.T151T|POMGNT1_ENST00000371986.3_Silent_p.T151T|POMGNT1_ENST00000485714.1_5'Flank|POMGNT1_ENST00000396420.3_Silent_p.T151T|POMGNT1_ENST00000535522.1_Silent_p.T129T	NM_017739.3	NP_060209	Q8WZA1	PMGT1_HUMAN	protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)	151					protein O-linked glycosylation (GO:0006493)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,3-N-acetylglucosaminyltransferase activity (GO:0047223)			breast(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	20	Acute lymphoblastic leukemia(166;0.155)					GAGGTGAGTACGTGTCAAACA	0.547																																						ENST00000396420.3																			0				breast(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	20						c.(451-453)acG>acA		protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)		C		6,4400	11.4+/-27.6	0,6,2197	118	92	100		453	-11.2	0.4	1	dbSNP_134	100	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	POMGNT1	NM_017739.3		0,7,6496	TT,TC,CC		0.0116,0.1362,0.0538		151/661	46661564	7,12999	2203	4300	6503	SO:0001819	synonymous_variant	55624				protein N-linked glycosylation|protein O-linked glycosylation	Golgi membrane|integral to membrane|microsome	alpha-1,3-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity|beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,3-N-acetylglucosaminyltransferase activity	g.chr1:46661564C>T		CCDS531.1, CCDS57995.1	1p34.1	2014-09-17	2013-07-31		ENSG00000085998	ENSG00000085998	2.4.1.-	"Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"	19139	protein-coding gene	gene with protein product	"protein O-mannose beta-1,2-N-acetylglucosaminyltransferase"	606822	"muscle-eye-brain disease", "protein O-linked mannose beta1,2-N-acetylglucosaminyltransferase"	MEB		11742540, 12788071	Standard	NM_017739		Approved	FLJ20277, MGAT1.2, LGMD2O	uc001cpg.3	Q8WZA1	OTTHUMG00000007604	ENST00000371984.3:c.453G>A	1.37:g.46661564C>T						POMGNT1_ENST00000535522.1_Silent_p.T129T|POMGNT1_ENST00000371984.3_Silent_p.T151T|POMGNT1_ENST00000371986.3_Silent_p.T151T|POMGNT1_ENST00000371992.1_Silent_p.T151T	p.T151T			Q8WZA1	PMGT1_HUMAN			6	1089	-	Acute lymphoblastic leukemia(166;0.155)		151					D3DQ16|Q5VST2|Q5VST3|Q9BV55|Q9H9L8|Q9NXF9|Q9NYF7	Silent	SNP	ENST00000371984.3	37	c.453G>A	CCDS531.1																																																																																				0.547	POMGNT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000020146.1	NM_017739		4	26	0	0	0	1	0	4	26					T	46661564	C	T	46661564	2	4	435	1	0	0	0	0	0	0	0	1	12243	523	19	1		1	POMGNT1	1	46661564	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	167044	46661564	202589057	318	21243											
RAD54L	8438	broad.mit.edu	37	chr1	46726956	46726956	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gattcatgaaccagcgtggaGccagggtgtcttctcccatc	8	10	11	12	1	3	1	1	1	2	0	5	3	3	2	3	2	3	0	3	2	1	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:46726956G>A	ENST00000371975.4	+	8	1464	c.790G>A	c.(790-792)Gcc>Acc	p.A264T	RAD54L_ENST00000473251.1_3'UTR|RAD54L_ENST00000442598.1_Missense_Mutation_p.A264T	NM_003579.3	NP_003570.2	Q92698	RAD54_HUMAN	RAD54-like (S. cerevisiae)	264	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				chromosome organization (GO:0051276)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA strand renaturation (GO:0000733)|double-strand break repair via homologous recombination (GO:0000724)|meiotic nuclear division (GO:0007126)|response to drug (GO:0042493)|response to ionizing radiation (GO:0010212)	nucleus (GO:0005634)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			breast(2)|cervix(1)|kidney(3)|large_intestine(5)|liver(1)|lung(6)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	25	Acute lymphoblastic leukemia(166;0.155)	Breast(1374;0.0634)		KIRC - Kidney renal clear cell carcinoma(1967;0.000896)		CCAGCGTGGAGCCAGGGTGTC	0.408								Direct reversal of damage;Homologous recombination																														ENST00000371975.4																			0				breast(2)|cervix(1)|kidney(3)|large_intestine(5)|liver(1)|lung(6)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	25						c.(790-792)Gcc>Acc	Direct reversal of damage;Homologous recombination	RAD54-like (S. cerevisiae)							120	106	111					1																	46726956		2203	4300	6503	SO:0001583	missense	8438				meiosis	nucleus	ATP binding|DNA binding|helicase activity	g.chr1:46726956G>A	X97795	CCDS532.1	1p32	2008-02-05	2001-11-28		ENSG00000085999	ENSG00000085999			9826	protein-coding gene	gene with protein product		603615	"RAD54 (S.cerevisiae)-like"			8805304	Standard	NM_003579		Approved	hHR54, hRAD54, RAD54A	uc009vye.2	Q92698	OTTHUMG00000007772	ENST00000371975.4:c.790G>A	1.37:g.46726956G>A	ENSP00000361043:p.Ala264Thr					RAD54L_ENST00000442598.1_Missense_Mutation_p.A264T	p.A264T	NM_003579.3	NP_003570.2	Q92698	RAD54_HUMAN		KIRC - Kidney renal clear cell carcinoma(1967;0.000896)	8	1464	+	Acute lymphoblastic leukemia(166;0.155)	Breast(1374;0.0634)	264			Helicase ATP-binding.		Q5TE31|Q6IUY3	Missense_Mutation	SNP	ENST00000371975.4	37	c.790G>A	CCDS532.1	.	.	.	.	.	.	.	.	.	.	G	14.06	2.423635	0.43020	.	.	ENSG00000085999	ENST00000442598;ENST00000371975;ENST00000535499	D;D	0.92647	-3.08;-3.08	5.71	4.74	0.60224	DEAD-like helicase (2);SNF2-related (1);	0.384294	0.28398	N	0.015500	D	0.84611	0.5510	N	0.24115	0.695	0.80722	D	1	B;B	0.10296	0.001;0.003	B;B	0.15052	0.009;0.012	T	0.77832	-0.2441	10	0.26408	T	0.33	-9.4598	10.6479	0.45632	0.0754:0.2231:0.7015:0.0	.	84;264	G3V1N0;Q92698	.;RAD54_HUMAN	T	264;264;84	ENSP00000396113:A264T;ENSP00000361043:A264T	ENSP00000361043:A264T	A	+	1	0	RAD54L	46499543	0.804000	0.28969	1.000000	0.80357	0.756000	0.42949	0.045000	0.14013	2.873000	0.98535	0.561000	0.74099	GCC		0.408	RAD54L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021272.1	NM_003579		41	42	0	0	0	1	0	41	42					A	46726956	G	A	46726956	3	1	435	1	0	0	0	0	1	0	0	0	12993	971	34	3	820	3	RAD54L	1	46726956	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	65392	46726956	202523665	319	21244											
FAAH	2166	broad.mit.edu	37	chr1	46874155	46874155	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acaccagctctcagcccctgCgtgtggggtactatgagact	8	9	11	13	1	1	1	1	1	1	1	2	2	1	1	3	2	4	2	3	2	2	2	rs200449828		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:46874155C>T	ENST00000243167.8	+	8	1060	c.976C>T	c.(976-978)Cgt>Tgt	p.R326C	FAAH_ENST00000493735.1_3'UTR	NM_001441.2	NP_001432.2	O00519	FAAH1_HUMAN	fatty acid amide hydrolase	326					fatty acid catabolic process (GO:0009062)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|organelle membrane (GO:0031090)	acylglycerol lipase activity (GO:0047372)|carbon-nitrogen ligase activity, with glutamine as amido-N-donor (GO:0016884)|fatty acid amide hydrolase activity (GO:0017064)			breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(1)	22	Acute lymphoblastic leukemia(166;0.155)				Propofol(DB00818)|Thiopental(DB00599)	TCAGCCCCTGCGTGTGGGGTA	0.602																																						ENST00000243167.8																			0				breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(1)	22						c.(976-978)Cgt>Tgt		fatty acid amide hydrolase	Propofol(DB00818)|Thiopental(DB00599)						194	202	199					1																	46874155		2203	4300	6503	SO:0001583	missense	2166				fatty acid catabolic process	cytoplasm|cytoskeleton|endomembrane system|integral to membrane|organelle membrane	carbon-nitrogen ligase activity, with glutamine as amido-N-donor|fatty acid amide hydrolase activity	g.chr1:46874155C>T	U82535	CCDS535.1	1p35-p34	2008-02-05			ENSG00000117480	ENSG00000117480			3553	protein-coding gene	gene with protein product		602935				9122178	Standard	NM_001441		Approved	FAAH-1	uc001cpu.2	O00519	OTTHUMG00000007811	ENST00000243167.8:c.976C>T	1.37:g.46874155C>T	ENSP00000243167:p.Arg326Cys					FAAH_ENST00000493735.1_3'UTR	p.R326C	NM_001441.2	NP_001432.2	O00519	FAAH1_HUMAN			8	1060	+	Acute lymphoblastic leukemia(166;0.155)		326					D3DQ19|Q52M86|Q5TDF8	Missense_Mutation	SNP	ENST00000243167.8	37	c.976C>T	CCDS535.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.233549	0.79688	.	.	ENSG00000117480	ENST00000243167;ENST00000396325	T	0.72282	-0.64	5.4	4.47	0.54385	Amidase signature domain (2);	0.057091	0.64402	D	0.000002	D	0.85771	0.5774	M	0.87180	2.865	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.88545	0.3112	10	0.87932	D	0	-13.5191	15.323	0.74139	0.1409:0.8591:0.0:0.0	.	326	O00519	FAAH1_HUMAN	C	326;33	ENSP00000243167:R326C	ENSP00000243167:R326C	R	+	1	0	FAAH	46646742	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.958000	0.49145	1.250000	0.43966	0.655000	0.94253	CGT		0.602	FAAH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021443.1	NM_001441		95	147	0	0	0	1	0	95	147					T	46874155	C	T	46874155	3	4	435	1	0	0	0	0	1	0	0	0	5353	768	27	1	1006	1	FAAH	1	46874155	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	147199	46874155	202376466	320	21245											
KNCN	148930	broad.mit.edu	37	chr1	47014926	47014926	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tctgcccctggatggggatgGattcttaggctccctgcagg	5	11	14	11	0	2	0	0	0	2	0	3	3	3	3	3	6	2	2	3	6	1	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:47014926G>A	ENST00000481882.2	-	3	545	c.234C>T	c.(232-234)atC>atT	p.I78I	KNCN_ENST00000396314.3_Silent_p.I55I|KNCN_ENST00000524908.1_5'UTR|MKNK1-AS1_ENST00000602433.1_RNA			A6PVL3	KNCN_HUMAN	kinocilin	78						apical plasma membrane (GO:0016324)|ciliary basal body (GO:0036064)|cuticular plate (GO:0032437)|integral component of membrane (GO:0016021)|kinocilium (GO:0060091)|neuronal cell body (GO:0043025)		p.I78M(1)		central_nervous_system(1)|endometrium(1)|lung(1)|ovary(1)	4	Acute lymphoblastic leukemia(166;0.155)					GATGGGGATGGATTCTTAGGC	0.527																																						ENST00000481882.2																			1	Substitution - Missense(1)	p.I78M(1)	central_nervous_system(1)	central_nervous_system(1)|endometrium(1)|lung(1)|ovary(1)	4						c.(232-234)atC>atT		kinocilin							108	112	110					1																	47014926		1955	4139	6094	SO:0001819	synonymous_variant	148930					integral to membrane		g.chr1:47014926G>A	AK056573	CCDS44133.1	1p33	2014-02-12	2006-10-26		ENSG00000162456	ENSG00000162456			26488	protein-coding gene	gene with protein product		611455				15855039	Standard	NM_001097611		Approved	FLJ32011, KINO, L5	uc001cpy.2	A6PVL3	OTTHUMG00000007987	ENST00000481882.2:c.234C>T	1.37:g.47014926G>A						KNCN_ENST00000396314.3_Silent_p.I55I|MKNK1-AS1_ENST00000602433.1_RNA|KNCN_ENST00000524908.1_5'UTR	p.I78I			A6PVL3	KNCN_HUMAN			3	545	-	Acute lymphoblastic leukemia(166;0.155)		78					A8MXE3	Silent	SNP	ENST00000481882.2	37	c.234C>T																																																																																					0.527	KNCN-002	KNOWN	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000316334.2	NM_182516		4	19	0	0	0	1	0	4	19					A	47014926	G	A	47014926	2	1	435	1	0	0	0	0	0	0	0	1	8425	1164	41	3		3	KNCN	1	47014926	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	140771	47014926	202235695	321	21246											
KNCN	148930	broad.mit.edu	37	chr1	47016750	47016750	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctcacccagaacagcagcGccaataaagacaccgcccat	14	4	7	16	2	1	2	1	0	0	2	1	2	1	2	4	0	4	2	4	0	4	1	rs376527773		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:47016750G>A	ENST00000481882.2	-	1	449	c.138C>T	c.(136-138)ggC>ggT	p.G46G	KNCN_ENST00000396314.3_Silent_p.G46G|KNCN_ENST00000524908.1_5'Flank|MKNK1-AS1_ENST00000602433.1_RNA			A6PVL3	KNCN_HUMAN	kinocilin	46						apical plasma membrane (GO:0016324)|ciliary basal body (GO:0036064)|cuticular plate (GO:0032437)|integral component of membrane (GO:0016021)|kinocilium (GO:0060091)|neuronal cell body (GO:0043025)				central_nervous_system(1)|endometrium(1)|lung(1)|ovary(1)	4	Acute lymphoblastic leukemia(166;0.155)					GAACAGCAGCGCCAATAAAGA	0.622																																						ENST00000481882.2																			0				central_nervous_system(1)|endometrium(1)|lung(1)|ovary(1)	4						c.(136-138)ggC>ggT		kinocilin							64	74	70					1																	47016750		2042	4202	6244	SO:0001819	synonymous_variant	148930					integral to membrane		g.chr1:47016750G>A	AK056573	CCDS44133.1	1p33	2014-02-12	2006-10-26		ENSG00000162456	ENSG00000162456			26488	protein-coding gene	gene with protein product		611455				15855039	Standard	NM_001097611		Approved	FLJ32011, KINO, L5	uc001cpy.2	A6PVL3	OTTHUMG00000007987	ENST00000481882.2:c.138C>T	1.37:g.47016750G>A						KNCN_ENST00000396314.3_Silent_p.G46G|MKNK1-AS1_ENST00000602433.1_RNA	p.G46G			A6PVL3	KNCN_HUMAN			1	449	-	Acute lymphoblastic leukemia(166;0.155)		46					A8MXE3	Silent	SNP	ENST00000481882.2	37	c.138C>T																																																																																					0.622	KNCN-002	KNOWN	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000316334.2	NM_182516		24	35	0	0	0	1	0	24	35					A	47016750	G	A	47016750	2	1	435	1	0	0	0	0	0	0	0	1	8425	1074	38	1		1	KNCN	1	47016750	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	1824	47016750	202233871	322	21247											
MOBKL2C	148932	broad.mit.edu	37	chr1	47075832	47075832	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gactcggaagaggcgggtcaGgatcttggtgcagacctgct	8	8	16	9	2	2	2	1	0	1	2	3	5	2	4	1	5	2	2	1	5	1	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:47075832G>T	ENST00000319928.3	-	3	693	c.463C>A	c.(463-465)Ctg>Atg	p.L155M	MOB3C_ENST00000371940.1_Missense_Mutation_p.L178M|MKNK1_ENST00000545730.1_Intron|MOB3C_ENST00000477318.1_5'UTR|MOB3C_ENST00000271139.8_Missense_Mutation_p.L207M	NM_201403.2	NP_958805.1	Q70IA8	MOB3C_HUMAN	MOB kinase activator 3C	155							metal ion binding (GO:0046872)										AGGCGGGTCAGGATCTTGGTG	0.567																																						ENST00000371940.1																			0											c.(532-534)Ctg>Atg		MOB kinase activator 3C							80	76	77					1																	47075832		2203	4300	6503	SO:0001583	missense	148932						metal ion binding	g.chr1:47075832G>T	AK091808	CCDS539.1, CCDS540.1	1p34.1	2011-09-28	2011-09-28	2011-09-28	ENSG00000142961	ENSG00000142961		"MOB kinase activators"	29800	protein-coding gene	gene with protein product			"MOB1, Mps One Binder kinase activator-like 2C (yeast)"	MOBKL2C		12477932	Standard	NM_145279		Approved	MOB1E	uc001cqe.4	Q70IA8	OTTHUMG00000007989	ENST00000319928.3:c.463C>A	1.37:g.47075832G>T	ENSP00000315113:p.Leu155Met					MOB3C_ENST00000477318.1_5'UTR|MOB3C_ENST00000319928.3_Missense_Mutation_p.L155M|MKNK1_ENST00000545730.1_Intron|MOB3C_ENST00000271139.8_Missense_Mutation_p.L207M	p.L178M			Q70IA8	MOL2C_HUMAN			2	3606	-			155					D3DQ22|Q0VA98|Q5TC10|Q5TC11|Q8NAZ2|Q8NF28	Missense_Mutation	SNP	ENST00000319928.3	37	c.532C>A	CCDS540.1	.	.	.	.	.	.	.	.	.	.	G	26.5	4.747736	0.89663	.	.	ENSG00000142961	ENST00000319928;ENST00000271139;ENST00000371940	.	.	.	5.09	5.09	0.68999	.	0.000000	0.85682	D	0.000000	T	0.61726	0.2370	M	0.64567	1.98	0.80722	D	1	P	0.45768	0.866	P	0.45138	0.471	T	0.64618	-0.6365	9	0.45353	T	0.12	-24.0045	17.8263	0.88666	0.0:0.0:1.0:0.0	.	155	Q70IA8	MOB3C_HUMAN	M	155;207;178	.	ENSP00000271139:L207M	L	-	1	2	MOBKL2C	46848419	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.744000	0.68664	2.514000	0.84764	0.561000	0.74099	CTG		0.567	MOB3C-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_145279		18	24	1	0	3.52763e-06	1	3.66169e-06	18	24					T	47075832	G	T	47075832	3	4	435	1	0	0	0	0	1	0	0	0	9686	991	35	5	195	5	MOBKL2C	1	47075832	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	59082	47075832	202174789	323	21248											
KIAA0494	9813	broad.mit.edu	37	chr1	47144280	47144280	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agcttcccatccacgtcctgGccagtcttgcggaataaatc	9	10	8	14	2	1	0	0	0	1	0	5	1	4	1	4	2	2	1	4	2	3	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:47144280G>A	ENST00000371933.3	-	11	2317	c.1341C>T	c.(1339-1341)ggC>ggT	p.G447G	EFCAB14-AS1_ENST00000418985.1_RNA|EFCAB14-AS1_ENST00000442839.1_RNA|EFCAB14_ENST00000544071.1_Intron	NM_014774.2	NP_055589.1	O75071	EFC14_HUMAN	EF-hand calcium binding domain 14	447	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.						calcium ion binding (GO:0005509)										CCACGTCCTGGCCAGTCTTGC	0.423																																						ENST00000371933.3																			0											c.(1339-1341)ggC>ggT		EF-hand calcium binding domain 14							80	81	81					1																	47144280		2203	4300	6503	SO:0001819	synonymous_variant	9813							g.chr1:47144280G>A	AB007963	CCDS30706.1	1p33	2013-01-10	2012-11-29	2012-11-29	ENSG00000159658	ENSG00000159658		"EF-hand domain containing"	29051	protein-coding gene	gene with protein product			"KIAA0494"	KIAA0494		9455484	Standard	NM_014774		Approved		uc001cqk.4	O75071	OTTHUMG00000007992	ENST00000371933.3:c.1341C>T	1.37:g.47144280G>A						EFCAB14-AS1_ENST00000418985.1_RNA|EFCAB14_ENST00000544071.1_Intron|EFCAB14-AS1_ENST00000442839.1_RNA	p.G447G	NM_014774.2	NP_055589.1					11	2317	-								D3DQ23|Q5SXB8	Silent	SNP	ENST00000371933.3	37	c.1341C>T	CCDS30706.1																																																																																				0.423	EFCAB14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021931.1	NM_014774		23	42	0	0	0	1	0	23	42					A	47144280	G	A	47144280	2	1	435	1	0	0	0	0	0	0	0	1	8179	1190	42	3		3	KIAA0494	1	47144280	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	68448	47144280	202106341	324	21249											
CYP4A11	1579	broad.mit.edu	37	chr1	47395847	47395848	+	Frame_Shift_Ins	INS	-	-	T																															tgagacgcaggtggattccaINStttttggatttcaacacaag																										TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:47395847_47395848insT	ENST00000310638.4	-	12	1530_1531	c.1499_1500insA	c.(1498-1500)aatfs	p.N500fs	CYP4A11_ENST00000462347.1_Frame_Shift_Ins_p.N402fs|CYP4A11_ENST00000371904.4_Frame_Shift_Ins_p.N501fs	NM_000778.3	NP_000769.2	Q02928	CP4AB_HUMAN	cytochrome P450, family 4, subfamily A, polypeptide 11	500			NGIHLRLRRLPNPCEDKDQL -> MESTCVSGGSLTLVKTR TSFEGLHLPSCLPDPRFCPLPVCPYPVFCLPTFPSSHLPAV PQSACPSLSHLSPGLPTCLSTCLLPTCISCWEKS (in CYP4A11V).		arachidonic acid metabolic process (GO:0019369)|cellular lipid metabolic process (GO:0044255)|epoxygenase P450 pathway (GO:0019373)|fatty acid metabolic process (GO:0006631)|leukotriene B4 catabolic process (GO:0036101)|leukotriene metabolic process (GO:0006691)|long-chain fatty acid metabolic process (GO:0001676)|omega-hydroxylase P450 pathway (GO:0097267)|oxidation-reduction process (GO:0055114)|positive regulation of icosanoid secretion (GO:0032305)|pressure natriuresis (GO:0003095)|renal water homeostasis (GO:0003091)|small molecule metabolic process (GO:0044281)|sodium ion homeostasis (GO:0055078)|xenobiotic metabolic process (GO:0006805)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)	alkane 1-monooxygenase activity (GO:0018685)|arachidonic acid epoxygenase activity (GO:0008392)|arachidonic acid omega-hydroxylase activity (GO:0052869)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|leukotriene-B4 20-monooxygenase activity (GO:0050051)			endometrium(2)|kidney(5)|large_intestine(6)|lung(6)|ovary(5)|prostate(3)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	36					Cisplatin(DB00515)|Clofibrate(DB00636)|Dexamethasone(DB01234)|Estrone(DB00655)|Ethanol(DB00898)|Lansoprazole(DB00448)|Pegvisomant(DB00082)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Rifampicin(DB01045)|Tretinoin(DB00755)	GGTGGATTCCATTTTTGGATTT	0.589																																						ENST00000310638.4																			0				endometrium(2)|kidney(5)|large_intestine(6)|lung(6)|ovary(5)|prostate(3)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	36						c.(1498-1500)aggfs		cytochrome P450, family 4, subfamily A, polypeptide 11	NADH(DB00157)																																			SO:0001589	frameshift_variant	1579				long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|oxygen binding	g.chr1:47395847_47395848insT	L04751	CCDS543.1	1p33	2008-02-05	2003-01-14		ENSG00000187048	ENSG00000187048		"Cytochrome P450s"	2642	protein-coding gene	gene with protein product		601310	"cytochrome P450, subfamily IVA, polypeptide 11"	CYP4A2		7679927	Standard	NM_000778		Approved	CYP4AII	uc001cqp.4	Q02928	OTTHUMG00000008020	ENST00000310638.4:c.1500dupA	1.37:g.47395852_47395852dupT	ENSP00000311095:p.Asn500fs					CYP4A11_ENST00000371904.4_Frame_Shift_Ins_p.R501fs|CYP4A11_ENST00000475477.1_5'UTR	p.R500fs	NM_000778.3	NP_000769.2	Q02928	CP4AB_HUMAN			12	1530_1531	-			500		NGIHLRLRRLPNPCEDKDQL -> MESTCVSGGSLTLVKTR TSFEGLHLPSCLPDPRFCPLPVCPYPVFCLPTFPSSHLPAV PQSACPSLSHLSPGLPTCLSTCLLPTCISCWEKS (in CYP4A11V).			Q06766|Q16865|Q16866|Q5VSP8|Q86SU6|Q8IWY5	Frame_Shift_Ins	INS	ENST00000310638.4	37	c.1499_1500insA	CCDS543.1																																																																																				0.589	CYP4A11-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000022022.1	NM_000778		12	32						12	32	---	---	---	---	T	47395848	-	T	47395847	7	5	435	1	0	1	1	0	0	0	0	0	4183	214	8	0	63	0	CYP4A11	1	47395847	Frame_Shift_Ins	INS	-	TCGA-XK-AAIW-01A-11D-A41K-08	251567	47395847	201854774	325	21250											
CYP4Z1	199974	broad.mit.edu	37	chr1	47560306	47560306	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagatactactcagaaaaggCgctgggattttctggacata	14	10	10	7	1	2	2	1	0	1	2	2	4	2	4	0	3	2	1	0	3	6	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:47560306C>T	ENST00000334194.3	+	7	844	c.841C>T	c.(841-843)Cgc>Tgc	p.R281C	CYP4A22-AS1_ENST00000444042.2_lincRNA	NM_178134.2	NP_835235.1	Q86W10	CP4Z1_HUMAN	cytochrome P450, family 4, subfamily Z, polypeptide 1	281						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			cervix(1)|large_intestine(4)|lung(4)|skin(1)|stomach(1)	11						TCAGAAAAGGCGCTGGGATTT	0.358																																						ENST00000334194.3																			0				cervix(1)|large_intestine(4)|lung(4)|skin(1)|stomach(1)	11						c.(841-843)Cgc>Tgc		cytochrome P450, family 4, subfamily Z, polypeptide 1							62	63	63					1																	47560306		2203	4300	6503	SO:0001583	missense	199974					endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding	g.chr1:47560306C>T	AY262056	CCDS545.1	1p33	2008-02-05			ENSG00000186160	ENSG00000186160		"Cytochrome P450s"	20583	protein-coding gene	gene with protein product						15059886	Standard	NM_178134		Approved	CYP4A20	uc001cqu.1	Q86W10	OTTHUMG00000008019	ENST00000334194.3:c.841C>T	1.37:g.47560306C>T	ENSP00000334246:p.Arg281Cys						p.R281C	NM_178134.2	NP_835235.1	Q86W10	CP4Z1_HUMAN			7	844	+			281					Q5VVE4	Missense_Mutation	SNP	ENST00000334194.3	37	c.841C>T	CCDS545.1	.	.	.	.	.	.	.	.	.	.	T	10.29	1.310280	0.23821	.	.	ENSG00000186160	ENST00000334194	T	0.70282	-0.47	2.06	-4.12	0.03916	.	0.526477	0.16155	N	0.227066	T	0.59905	0.2228	L	0.54863	1.705	0.09310	N	1	P	0.46327	0.876	P	0.45138	0.471	T	0.55768	-0.8089	10	0.49607	T	0.09	.	4.4291	0.11518	0.0:0.3575:0.1739:0.4685	.	281	Q86W10	CP4Z1_HUMAN	C	281	ENSP00000334246:R281C	ENSP00000334246:R281C	R	+	1	0	CYP4Z1	47332893	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.005000	0.03674	-0.990000	0.03481	-1.963000	0.00474	CGC		0.358	CYP4Z1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022020.1	NM_178134		26	28	0	0	0	1	0	26	28					T	47560306	C	T	47560306	3	4	435	1	0	0	0	0	1	0	0	0	4194	768	27	1	867	1	CYP4Z1	1	47560306	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	164459	47560306	201690315	326	21251											
CYP4Z1	199974	broad.mit.edu	37	chr1	47571860	47571860	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aaggaatgcctccgcctctaCgcaccggtagtaaacatatc	12	8	8	13	3	1	0	0	0	1	0	3	1	2	1	4	2	3	3	4	2	7	4	rs142306823	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:47571860C>T	ENST00000334194.3	+	9	1131	c.1128C>T	c.(1126-1128)taC>taT	p.Y376Y	CYP4A22-AS1_ENST00000444042.2_lincRNA	NM_178134.2	NP_835235.1	Q86W10	CP4Z1_HUMAN	cytochrome P450, family 4, subfamily Z, polypeptide 1	376						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			cervix(1)|large_intestine(4)|lung(4)|skin(1)|stomach(1)	11						TCCGCCTCTACGCACCGGTAG	0.473													C|||	4	0.000798722	0.0023	0	5008	,	,		19461	0		0	False		,,,				2504	0.001					ENST00000334194.3																			0				cervix(1)|large_intestine(4)|lung(4)|skin(1)|stomach(1)	11						c.(1126-1128)taC>taT		cytochrome P450, family 4, subfamily Z, polypeptide 1		C		5,4401	9.9+/-24.2	0,5,2198	119	105	109		1128	-4.8	0	1	dbSNP_134	109	0,8600		0,0,4300	no	coding-synonymous	CYP4Z1	NM_178134.2		0,5,6498	TT,TC,CC		0.0,0.1135,0.0384		376/506	47571860	5,13001	2203	4300	6503	SO:0001819	synonymous_variant	199974					endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding	g.chr1:47571860C>T	AY262056	CCDS545.1	1p33	2008-02-05			ENSG00000186160	ENSG00000186160		"Cytochrome P450s"	20583	protein-coding gene	gene with protein product						15059886	Standard	NM_178134		Approved	CYP4A20	uc001cqu.1	Q86W10	OTTHUMG00000008019	ENST00000334194.3:c.1128C>T	1.37:g.47571860C>T						CYP4A22-AS1_ENST00000444042.2_lincRNA	p.Y376Y	NM_178134.2	NP_835235.1	Q86W10	CP4Z1_HUMAN			9	1131	+			376					Q5VVE4	Silent	SNP	ENST00000334194.3	37	c.1128C>T	CCDS545.1																																																																																				0.473	CYP4Z1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022020.1	NM_178134		29	65	0	0	0	1	0	29	65					T	47571860	C	T	47571860	2	4	435	1	0	0	0	0	0	0	0	1	4194	547	19	1		1	CYP4Z1	1	47571860	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	11554	47571860	201678761	327	21252											
CYP4A22	284541	broad.mit.edu	37	chr1	47610124	47610124	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tggattttctggacatcctcCtcttggccaaagtgagtatg	8	14	10	9	0	2	1	0	1	2	0	4	3	4	3	3	3	0	1	3	3	2	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:47610124C>T	ENST00000371891.3	+	7	917	c.886C>T	c.(886-888)Ctc>Ttc	p.L296F	CYP4A22-AS1_ENST00000444042.2_lincRNA|CYP4A22_ENST00000294337.3_Missense_Mutation_p.L296F|CYP4A22_ENST00000485117.1_3'UTR|CYP4A22_ENST00000371890.3_Missense_Mutation_p.P244L	NM_001010969.2	NP_001010969.2	Q5TCH4	CP4AM_HUMAN	cytochrome P450, family 4, subfamily A, polypeptide 22	296						endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)	alkane 1-monooxygenase activity (GO:0018685)|arachidonic acid omega-hydroxylase activity (GO:0052869)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						GGACATCCTCCTCTTGGCCAA	0.507																																					Pancreas(88;1240 1470 2099 14214 37557)	ENST00000371891.3																			0				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						c.(886-888)Ctc>Ttc		cytochrome P450, family 4, subfamily A, polypeptide 22							143	135	138					1																	47610124		2203	4300	6503	SO:0001583	missense	284541					endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding	g.chr1:47610124C>T		CCDS30707.1	1p33	2007-12-14			ENSG00000162365	ENSG00000162365		"Cytochrome P450s"	20575	protein-coding gene	gene with protein product		615341					Standard	XM_005270768		Approved		uc001cqv.1	Q5TCH4	OTTHUMG00000007845	ENST00000371891.3:c.886C>T	1.37:g.47610124C>T	ENSP00000360958:p.Leu296Phe					CYP4A22_ENST00000485117.1_3'UTR|CYP4A22_ENST00000371890.3_Missense_Mutation_p.P244L|CYP4A22_ENST00000294337.3_Missense_Mutation_p.L296F|CYP4A22-AS1_ENST00000444042.2_lincRNA	p.L296F	NM_001010969.2	NP_001010969.2	Q5TCH4	CP4AM_HUMAN			7	917	+			296					Q5TCH3|Q6JXK7|Q6JXK8|Q9NRM4	Missense_Mutation	SNP	ENST00000371891.3	37	c.886C>T	CCDS30707.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	14.24|14.24	2.476889|2.476889	0.44044|0.44044	.|.	.|.	ENSG00000162365|ENSG00000162365	ENST00000371891;ENST00000294337|ENST00000371890	T;T|T	0.75589|0.71934	-0.95;-0.95|-0.61	1.51|1.51	1.51|1.51	0.23008|0.23008	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.73016|0.73016	0.3533|0.3533	M|M	0.88377|0.88377	2.95|2.95	0.53005|0.53005	D|D	0.999969|0.999969	D|B	0.56287|0.10296	0.975|0.003	P|B	0.55011|0.01281	0.766|0.0	T|T	0.75107|0.75107	-0.3434|-0.3434	10|9	0.87932|0.87932	D|D	0|0	.|.	11.2947|11.2947	0.49272|0.49272	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	296|244	Q5TCH4|Q5TCH5	CP4AM_HUMAN|.	F|L	296|244	ENSP00000360958:L296F;ENSP00000294337:L296F|ENSP00000360957:P244L	ENSP00000294337:L296F|ENSP00000360957:P244L	L|P	+|+	1|2	0|0	CYP4A22|CYP4A22	47382711|47382711	1.000000|1.000000	0.71417|0.71417	0.987000|0.987000	0.45799|0.45799	0.361000|0.361000	0.29550|0.29550	5.203000|5.203000	0.65174|0.65174	0.842000|0.842000	0.35045|0.35045	0.194000|0.194000	0.17425|0.17425	CTC|CCT		0.507	CYP4A22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021635.1	XM_208213		23	54	0	0	0	1	0	23	54					T	47610124	C	T	47610124	3	4	435	1	0	0	0	0	1	0	0	0	4184	681	24	3	912	3	CYP4A22	1	47610124	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	38264	47610124	201640497	328	21253											
CYP4A22	284541	broad.mit.edu	37	chr1	47610366	47610366	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaagcatcaggagaggtgcCgggaggagatccatggcctc	10	5	15	11	1	1	2	1	0	0	2	3	5	2	3	4	5	2	1	4	5	1	0	rs372905572		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:47610366C>T	ENST00000371891.3	+	8	1073	c.1042C>T	c.(1042-1044)Cgg>Tgg	p.R348W	CYP4A22-AS1_ENST00000444042.2_lincRNA|CYP4A22_ENST00000294337.3_Missense_Mutation_p.R348W|CYP4A22_ENST00000485117.1_Intron|CYP4A22_ENST00000371890.3_Intron	NM_001010969.2	NP_001010969.2	Q5TCH4	CP4AM_HUMAN	cytochrome P450, family 4, subfamily A, polypeptide 22	348						endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)	alkane 1-monooxygenase activity (GO:0018685)|arachidonic acid omega-hydroxylase activity (GO:0052869)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						GGAGAGGTGCCGGGAGGAGAT	0.612																																					Pancreas(88;1240 1470 2099 14214 37557)	ENST00000371891.3																			0				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						c.(1042-1044)Cgg>Tgg		cytochrome P450, family 4, subfamily A, polypeptide 22		C	TRP/ARG	0,4406		0,0,2203	63	62	63		1042	1.5	1	1		63	1,8599	1.2+/-3.3	0,1,4299	no	missense	CYP4A22	NM_001010969.2	101	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	348/520	47610366	1,13005	2203	4300	6503	SO:0001583	missense	284541					endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding	g.chr1:47610366C>T		CCDS30707.1	1p33	2007-12-14			ENSG00000162365	ENSG00000162365		"Cytochrome P450s"	20575	protein-coding gene	gene with protein product		615341					Standard	XM_005270768		Approved		uc001cqv.1	Q5TCH4	OTTHUMG00000007845	ENST00000371891.3:c.1042C>T	1.37:g.47610366C>T	ENSP00000360958:p.Arg348Trp					CYP4A22_ENST00000485117.1_Intron|CYP4A22_ENST00000371890.3_Intron|CYP4A22_ENST00000294337.3_Missense_Mutation_p.R348W|CYP4A22-AS1_ENST00000444042.2_lincRNA	p.R348W	NM_001010969.2	NP_001010969.2	Q5TCH4	CP4AM_HUMAN			8	1073	+			348					Q5TCH3|Q6JXK7|Q6JXK8|Q9NRM4	Missense_Mutation	SNP	ENST00000371891.3	37	c.1042C>T	CCDS30707.1	.	.	.	.	.	.	.	.	.	.	c	14.46	2.541841	0.45280	0.0	1.16E-4	ENSG00000162365	ENST00000371891;ENST00000294337	T;T	0.73258	-0.73;-0.73	1.51	1.51	0.23008	.	0.051976	0.85682	D	0.000000	T	0.81992	0.4940	M	0.85542	2.76	0.43444	D	0.995627	D	0.89917	1.0	D	0.91635	0.999	T	0.81540	-0.0886	10	0.87932	D	0	.	7.5535	0.27810	0.3439:0.6561:0.0:0.0	.	348	Q5TCH4	CP4AM_HUMAN	W	348	ENSP00000360958:R348W;ENSP00000294337:R348W	ENSP00000294337:R348W	R	+	1	2	CYP4A22	47382953	0.992000	0.36948	0.962000	0.40283	0.190000	0.23558	0.406000	0.21032	0.842000	0.35045	0.194000	0.17425	CGG		0.612	CYP4A22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021635.1	XM_208213		12	28	0	0	0	1	0	12	28					T	47610366	C	T	47610366	3	4	435	1	0	0	0	0	1	0	0	0	4184	643	23	2	1072	2	CYP4A22	1	47610366	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	242	47610366	201640255	329	21254											
STIL	6491	broad.mit.edu	37	chr1	47735351	47735351	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aattcttcttccacagcaatGttgctctcttcaaaactggg	10	14	6	11	0	4	0	1	0	3	0	6	0	5	0	1	1	3	3	1	1	4	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:47735351G>A	ENST00000360380.3	-	15	2934	c.2571C>T	c.(2569-2571)aaC>aaT	p.N857N	STIL_ENST00000371877.3_Silent_p.N857N|STIL_ENST00000396221.2_Silent_p.N857N|STIL_ENST00000337817.5_Silent_p.N857N|STIL_ENST00000243182.6_Silent_p.N857N	NM_001282936.1	NP_001269865.1	Q15468	STIL_HUMAN	SCL/TAL1 interrupting locus	857					cell proliferation (GO:0008283)|determination of left/right symmetry (GO:0007368)|embryonic axis specification (GO:0000578)|floor plate development (GO:0033504)|forebrain development (GO:0030900)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|neural tube closure (GO:0001843)|neural tube development (GO:0021915)|notochord development (GO:0030903)|smoothened signaling pathway (GO:0007224)	centrosome (GO:0005813)|cytoplasm (GO:0005737)				central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	36		Acute lymphoblastic leukemia(5;0.00116)|all_hematologic(5;0.00444)				CCACAGCAATGTTGCTCTCTT	0.328																																						ENST00000360380.3																			0				central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	36						c.(2569-2571)aaC>aaT		SCL/TAL1 interrupting locus							101	104	103					1																	47735351		2203	4300	6503	SO:0001819	synonymous_variant	6491				cell proliferation|multicellular organismal development	centrosome|cytosol		g.chr1:47735351G>A	M74558	CCDS548.1, CCDS41329.1, CCDS72785.1, CCDS72786.1	1p32	2010-02-09	2005-11-29	2005-11-29	ENSG00000123473	ENSG00000123473			10879	protein-coding gene	gene with protein product		181590	"TAL1 (SCL) interrupting locus"	SIL		2209547	Standard	NM_003035		Approved	MCPH7	uc001crd.1	Q15468	OTTHUMG00000007851	ENST00000360380.3:c.2571C>T	1.37:g.47735351G>A						STIL_ENST00000243182.6_Silent_p.N857N|STIL_ENST00000337817.5_Silent_p.N857N|STIL_ENST00000371877.3_Silent_p.N857N|STIL_ENST00000396221.2_Silent_p.N857N	p.N857N			Q15468	STIL_HUMAN			15	2934	-		Acute lymphoblastic leukemia(5;0.00116)|all_hematologic(5;0.00444)	857					Q5T0C5|Q68CN9	Silent	SNP	ENST00000360380.3	37	c.2571C>T	CCDS548.1	.	.	.	.	.	.	.	.	.	.	G	8.287	0.816832	0.16607	.	.	ENSG00000123473	ENST00000436811	.	.	.	4.48	4.48	0.54585	.	.	.	.	.	T	0.56572	0.1994	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.54536	-0.8279	4	.	.	.	-6.6402	6.8664	0.24096	0.1602:0.0:0.8398:0.0	.	.	.	.	Y	197	.	.	H	-	1	0	STIL	47507938	0.829000	0.29322	0.999000	0.59377	0.989000	0.77384	1.353000	0.34045	2.314000	0.78098	0.462000	0.41574	CAT		0.328	STIL-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000021649.2	NM_003035		32	36	0	0	0	1	0	32	36					A	47735351	G	A	47735351	2	1	435	1	0	0	0	0	0	0	0	1	15281	1368	48	3		3	STIL	1	47735351	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	124985	47735351	201515270	330	21255											
FOXD2	2306	broad.mit.edu	37	chr1	47904507	47904507	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctgccgccgccgcacccaCacccgcaccctcacccggag	6	2	8	25	5	1	0	1	0	0	0	1	1	1	1	8	1	1	2	8	1	0	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:47904507C>T	ENST00000334793.5	+	1	2819	c.700C>T	c.(700-702)Cac>Tac	p.H234Y		NM_004474.3	NP_004465.3	O60548	FOXD2_HUMAN	forkhead box D2	234	Pro-rich.				transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			lung(4)	4				READ - Rectum adenocarcinoma(2;0.0908)		GCCGCACCCACACCCGCACCC	0.746																																						ENST00000334793.5																			0				lung(4)	4						c.(700-702)Cac>Tac		forkhead box D2							11	14	13					1																	47904507		1940	3917	5857	SO:0001583	missense	2306				axon extension involved in axon guidance|cartilage development|dichotomous subdivision of terminal units involved in ureteric bud branching|embryo development|enteric nervous system development|iridophore differentiation|lateral line nerve glial cell development|melanocyte differentiation|neural crest cell migration|pattern specification process|peripheral nervous system development|positive regulation of BMP signaling pathway|positive regulation of kidney development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chr1:47904507C>T	AF042832	CCDS30708.1	1p34-p32	2008-02-05			ENSG00000186564	ENSG00000186564		"Forkhead boxes"	3803	protein-coding gene	gene with protein product		602211		FKHL17		9403061, 12621056	Standard	NM_004474		Approved	FREAC9	uc001crm.3	O60548	OTTHUMG00000007950	ENST00000334793.5:c.700C>T	1.37:g.47904507C>T	ENSP00000335493:p.His234Tyr						p.H234Y	NM_004474.3	NP_004465.3	O60548	FOXD2_HUMAN		READ - Rectum adenocarcinoma(2;0.0908)	1	2819	+			234			Pro-rich.		Q5SVZ3	Missense_Mutation	SNP	ENST00000334793.5	37	c.700C>T	CCDS30708.1	.	.	.	.	.	.	.	.	.	.	C	12.82	2.051494	0.36181	.	.	ENSG00000186564	ENST00000334793	D	0.93307	-3.2	4.27	4.27	0.50696	.	.	.	.	.	D	0.93605	0.7958	L	0.44542	1.39	0.25972	N	0.982486	D	0.57899	0.981	D	0.65140	0.932	D	0.85992	0.1489	9	0.15952	T	0.53	.	11.5235	0.50565	0.0:0.8178:0.1822:0.0	.	234	O60548	FOXD2_HUMAN	Y	234	ENSP00000335493:H234Y	ENSP00000335493:H234Y	H	+	1	0	FOXD2	47677094	0.008000	0.16893	0.972000	0.41901	0.831000	0.47069	-0.514000	0.06298	1.902000	0.55061	0.491000	0.48974	CAC		0.746	FOXD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021831.1	NM_004474		12	12	0	0	0	1	0	12	12					T	47904507	C	T	47904507	3	4	435	1	0	0	0	0	1	0	0	0	5997	478	17	3	702	3	FOXD2	1	47904507	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	169156	47904507	201346114	331	21256											
CC2D1B	200014	broad.mit.edu	37	chr1	52825142	52825142	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	catactgaccctcaggtgccGggggcatggcactcagatcc	8	7	12	14	1	2	2	2	1	0	1	3	2	3	2	3	4	2	2	3	4	1	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:52825142G>A	ENST00000371586.2	-	9	1145	c.1007C>T	c.(1006-1008)cCg>cTg	p.P336L	CC2D1B_ENST00000460261.1_5'UTR|CC2D1B_ENST00000438831.1_5'UTR|CC2D1B_ENST00000284376.3_Missense_Mutation_p.P336L	NM_032449.2	NP_115825.1	Q5T0F9	C2D1B_HUMAN	coiled-coil and C2 domain containing 1B	336						nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)			breast(1)|large_intestine(6)|lung(13)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	27						CTCAGGTGCCGGGGGCATGGC	0.622																																						ENST00000371586.2																			0				breast(1)|large_intestine(6)|lung(13)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	27						c.(1006-1008)cCg>cTg		coiled-coil and C2 domain containing 1B							40	40	40					1																	52825142		2203	4300	6503	SO:0001583	missense	200014							g.chr1:52825142G>A	AB058739	CCDS30714.1	1p32.3	2008-02-05			ENSG00000154222	ENSG00000154222			29386	protein-coding gene	gene with protein product						11347906	Standard	NM_032449		Approved	KIAA1836	uc001ctq.2	Q5T0F9	OTTHUMG00000008102	ENST00000371586.2:c.1007C>T	1.37:g.52825142G>A	ENSP00000360642:p.Pro336Leu					CC2D1B_ENST00000460261.1_5'UTR|CC2D1B_ENST00000284376.3_Missense_Mutation_p.P336L|CC2D1B_ENST00000438831.1_5'UTR	p.P336L	NM_032449.2	NP_115825.1	Q5T0F9	C2D1B_HUMAN			9	1145	-			336					Q49AE8|Q5T0F8|Q5T0G0|Q6ZNQ1|Q96AP3|Q96I04|Q96JJ1	Missense_Mutation	SNP	ENST00000371586.2	37	c.1007C>T	CCDS30714.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.19|18.19	3.569053|3.569053	0.65765|0.65765	.|.	.|.	ENSG00000154222|ENSG00000154222	ENST00000371586;ENST00000284376;ENST00000371573|ENST00000438021;ENST00000450942	T;T|.	0.27104|.	1.69;1.69|.	4.88|4.88	3.97|3.97	0.46021|0.46021	Domain of unknown function DM14 (1);|.	0.195954|.	0.44483|.	D|.	0.000456|.	T|T	0.66056|0.66056	0.2751|0.2751	M|M	0.75884|0.75884	2.315|2.315	0.80722|0.80722	D|D	1|1	D;D|.	0.76494|.	0.992;0.999|.	P;P|.	0.58970|.	0.644;0.849|.	T|T	0.65776|0.65776	-0.6086|-0.6086	10|5	0.87932|.	D|.	0|.	-11.2311|-11.2311	8.8627|8.8627	0.35267|0.35267	0.0836:0.1503:0.7662:0.0|0.0836:0.1503:0.7662:0.0	.|.	122;336|.	Q5T0G1;Q5T0F9|.	.;C2D1B_HUMAN|.	L|W	336;336;250|123;256	ENSP00000360642:P336L;ENSP00000284376:P336L|.	ENSP00000284376:P336L|.	P|R	-|-	2|1	0|2	CC2D1B|CC2D1B	52597730|52597730	1.000000|1.000000	0.71417|0.71417	0.991000|0.991000	0.47740|0.47740	0.873000|0.873000	0.50193|0.50193	5.049000|5.049000	0.64244|0.64244	1.281000|1.281000	0.44480|0.44480	-0.123000|-0.123000	0.14984|0.14984	CCG|CGG		0.622	CC2D1B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000022189.1	NM_032449		6	29	0	0	0	1	0	6	29					A	52825142	G	A	52825142	3	1	435	1	0	0	0	0	1	0	0	0	2727	1116	39	2	1633	2	CC2D1B	1	52825142	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	4920635	52825142	196425479	332	21257											
ZCCHC11	23318	broad.mit.edu	37	chr1	52940596	52940596	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aaggtcagaagcatcttctgTagctttgcagttgcaagagg	11	11	12	7	0	3	2	1	0	2	2	3	2	3	2	0	2	4	6	0	2	4	4	rs200887652		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:52940596T>C	ENST00000371544.3	-	13	2897	c.2635A>G	c.(2635-2637)Aca>Gca	p.T879A	ZCCHC11_ENST00000257177.4_Missense_Mutation_p.T879A|ZCCHC11_ENST00000371541.1_5'UTR	NM_001009881.2|NM_015269.2	NP_001009881.1|NP_056084.1	Q5TAX3	TUT4_HUMAN	zinc finger, CCHC domain containing 11	879					cytokine production (GO:0001816)|miRNA catabolic process (GO:0010587)|miRNA metabolic process (GO:0010586)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|pre-miRNA processing (GO:0031054)|regulation of lipopolysaccharide-mediated signaling pathway (GO:0031664)|RNA 3'-end processing (GO:0031123)|stem cell maintenance (GO:0019827)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|RNA uridylyltransferase activity (GO:0050265)|zinc ion binding (GO:0008270)			NS(2)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(17)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	58						GCATCTTCTGTAGCTTTGCAG	0.403																																						ENST00000371544.3																			0				NS(2)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(17)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	58						c.(2635-2637)Aca>Gca		zinc finger, CCHC domain containing 11							89	82	84					1																	52940596		2203	4300	6503	SO:0001583	missense	23318				miRNA catabolic process|pre-miRNA processing|RNA 3'-end processing|stem cell maintenance	cytoplasm|nucleolus	nucleic acid binding|protein binding|RNA uridylyltransferase activity|zinc ion binding	g.chr1:52940596T>C	D83776	CCDS30715.1, CCDS30716.1	1p32.3	2014-03-05			ENSG00000134744	ENSG00000134744		"Zinc fingers, CCHC domain containing"	28981	protein-coding gene	gene with protein product	"TUTase4"	613692				8724849, 12239557	Standard	NM_015269		Approved	KIAA0191, PAPD3, TUT4	uc001cty.2	Q5TAX3	OTTHUMG00000008200	ENST00000371544.3:c.2635A>G	1.37:g.52940596T>C	ENSP00000360599:p.Thr879Ala					ZCCHC11_ENST00000257177.4_Missense_Mutation_p.T879A|ZCCHC11_ENST00000371541.1_5'UTR	p.T879A	NM_001009881.2|NM_015269.2	NP_001009881.1|NP_056084.1	Q5TAX3	TUT4_HUMAN			13	2897	-			879					A2RRP0|B7Z8J5|D3DQ35|Q12764|Q5TAX2|Q5TAX4|Q86XZ3	Missense_Mutation	SNP	ENST00000371544.3	37	c.2635A>G	CCDS30716.1	.	.	.	.	.	.	.	.	.	.	T	2.915	-0.224504	0.06061	.	.	ENSG00000134744	ENST00000257177;ENST00000371544;ENST00000528642;ENST00000484723	T;T;T;T	0.43688	0.95;0.96;0.96;0.94	5.49	1.69	0.24217	.	0.717813	0.14011	N	0.347445	T	0.19846	0.0477	N	0.14661	0.345	0.80722	D	1	B;B	0.12013	0.0;0.005	B;B	0.04013	0.001;0.001	T	0.07693	-1.0759	10	0.10902	T	0.67	.	5.7014	0.17885	0.0:0.1405:0.3114:0.5481	.	638;879	E9PKX1;Q5TAX3	.;TUT4_HUMAN	A	879;879;808;638	ENSP00000257177:T879A;ENSP00000360599:T879A;ENSP00000433486:T808A;ENSP00000435256:T638A	ENSP00000257177:T879A	T	-	1	0	ZCCHC11	52713184	0.980000	0.34600	0.999000	0.59377	0.990000	0.78478	0.072000	0.14617	0.871000	0.35750	0.455000	0.32223	ACA		0.403	ZCCHC11-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000022462.1	XM_038288		26	62	0	0	0	1	0	26	62					C	52940596	T	C	52940596	3	2	435	1	0	0	0	0	1	0	0	0	17577	1638	57	4	2374	4	ZCCHC11	1	52940596	Missense_Mutation	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	115454	52940596	196310025	333	21258											
C1orf163	65260	broad.mit.edu	37	chr1	53153624	53153624	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gggcaccctgcaggaacatgGcactgaggttgaagcaactg	11	6	14	10	0	0	2	0	2	0	0	0	3	0	3	1	4	4	5	1	4	3	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:53153624G>A	ENST00000371538.3	-	3	503	c.464C>T	c.(463-465)gCc>gTc	p.A155V	SELRC1_ENST00000486918.1_5'UTR	NM_023077.2	NP_075565.2														breast(1)|lung(3)|prostate(1)|urinary_tract(1)	6						CAGGAACATGGCACTGAGGTT	0.547																																						ENST00000371538.3																			0				breast(1)|lung(3)|prostate(1)|urinary_tract(1)	6						c.(463-465)gCc>gTc		Sel1 repeat containing 1							113	100	105					1																	53153624		2203	4300	6503	SO:0001583	missense	65260						binding	g.chr1:53153624G>A																												ENST00000371538.3:c.464C>T	1.37:g.53153624G>A	ENSP00000360593:p.Ala155Val					SELRC1_ENST00000486918.1_5'UTR	p.A155V	NM_023077.2	NP_075565.2	Q96BR5	SELR1_HUMAN			3	503	-			155						Missense_Mutation	SNP	ENST00000371538.3	37	c.464C>T	CCDS570.1	.	.	.	.	.	.	.	.	.	.	G	16.26	3.072712	0.55646	.	.	ENSG00000162377	ENST00000371538	T	0.49432	0.78	5.73	4.82	0.62117	Tetratricopeptide-like helical (1);	0.310233	0.39985	N	0.001216	T	0.29423	0.0733	N	0.13235	0.315	0.37130	D	0.90121	B	0.16802	0.019	B	0.21708	0.036	T	0.19582	-1.0301	10	0.15952	T	0.53	0.2101	11.3675	0.49681	0.156:0.0:0.844:0.0	.	155	Q96BR5	SELR1_HUMAN	V	155	ENSP00000360593:A155V	ENSP00000360593:A155V	A	-	2	0	SELRC1	52926212	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.173000	0.50839	1.446000	0.47643	0.549000	0.68633	GCC		0.547	SELRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023462.1			16	41	0	0	0	1	0	16	41					A	53153624	G	A	53153624	3	1	435	1	0	0	0	0	1	0	0	0	2011	1203	42	3	235	3	C1orf163	1	53153624	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	213028	53153624	196096997	334	21259											
ZYG11B	79699	broad.mit.edu	37	chr1	53261994	53261994	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gccaagcttgtcatgcagtgGctttgcaaccatgaggatca	10	10	11	10	0	2	1	2	1	0	0	2	2	2	2	2	2	4	4	2	2	2	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:53261994G>A	ENST00000294353.6	+	7	1510	c.1365G>A	c.(1363-1365)tgG>tgA	p.W455*	ZYG11B_ENST00000443756.2_Nonsense_Mutation_p.W455*|ZYG11B_ENST00000545132.1_Nonsense_Mutation_p.W455*	NM_024646.2	NP_078922.1	Q9C0D3	ZY11B_HUMAN	zyg-11 family member B, cell cycle regulator	455										breast(1)|endometrium(1)|kidney(6)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	30						TCATGCAGTGGCTTTGCAACC	0.443																																						ENST00000294353.6																			0				breast(1)|endometrium(1)|kidney(6)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	30						c.(1363-1365)tgG>tgA		zyg-11 family member B, cell cycle regulator							90	86	88					1																	53261994		2203	4300	6503	SO:0001587	stop_gained	79699						protein binding	g.chr1:53261994G>A	AB051517	CCDS30717.1	1p32.3	2013-01-17	2012-12-10	2005-07-11	ENSG00000162378	ENSG00000162378		"ZYG11 cell cycle regulator family"	25820	protein-coding gene	gene with protein product			"zyg-11 homolog (C. elegans)", "zyg-11 homolog B (C. elegans)"	ZYG11		11214970	Standard	NM_024646		Approved	FLJ13456	uc001cuj.3	Q9C0D3	OTTHUMG00000008938	ENST00000294353.6:c.1365G>A	1.37:g.53261994G>A	ENSP00000294353:p.Trp455*					ZYG11B_ENST00000443756.2_Nonsense_Mutation_p.W455*|ZYG11B_ENST00000545132.1_Nonsense_Mutation_p.W455*	p.W455*	NM_024646.2	NP_078922.1	Q9C0D3	ZY11B_HUMAN			7	1510	+			455					Q8N2X3|Q9H8L8	Nonsense_Mutation	SNP	ENST00000294353.6	37	c.1365G>A	CCDS30717.1	.	.	.	.	.	.	.	.	.	.	G	39	7.392742	0.98255	.	.	ENSG00000162378	ENST00000443756;ENST00000545132;ENST00000294353	.	.	.	5.19	5.19	0.71726	.	0.129645	0.56097	D	0.000021	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.27082	T	0.32	.	18.724	0.91705	0.0:0.0:1.0:0.0	.	.	.	.	X	455	.	ENSP00000294353:W455X	W	+	3	0	ZYG11B	53034582	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.738000	0.98835	2.428000	0.82296	0.563000	0.77884	TGG		0.443	ZYG11B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024749.1	NM_024646		13	19	0	0	0	1	0	13	19					A	53261994	G	A	53261994	4	1	435	1	0	0	0	0	0	1	0	0	18250	1212	42	3	1391	3	ZYG11B	1	53261994	Nonsense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	108370	53261994	195988627	335	21260											
SCP2	6342	broad.mit.edu	37	chr1	53444040	53444040	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	aaaaaagcattattaaaatgGtatgtctgagattctatttg	16	15	7	3	0	2	1	0	1	2	1	2	2	2	1	0	1	1	2	0	1	8	6	rs144132787	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:53444040G>A	ENST00000528311.1	+	8	878		c.e8+1		SCP2_ENST00000371509.4_Splice_Site|SCP2_ENST00000371514.3_Splice_Site|SCP2_ENST00000407246.2_Splice_Site|SCP2_ENST00000371513.5_Splice_Site|SCP2_ENST00000473584.1_Splice_Site	NM_001193617.1	NP_001180546.1	Q9BX26	SYCP2_HUMAN	sterol carrier protein 2						female meiotic division (GO:0007143)|fertilization (GO:0009566)|male genitalia morphogenesis (GO:0048808)|male meiosis (GO:0007140)|negative regulation of apoptotic process (GO:0043066)|synaptonemal complex assembly (GO:0007130)	lateral element (GO:0000800)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	DNA binding (GO:0003677)			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(1)	15						TATTAAAATGGTATGTCTGAG	0.313																																						ENST00000371514.3																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(1)	15						c.e9+1		sterol carrier protein 2							82	82	82					1																	53444040		2203	4300	6503	SO:0001630	splice_region_variant	6342				bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase|lipid transport	mitochondrion|nucleus|peroxisomal matrix	propanoyl-CoA C-acyltransferase activity|propionyl-CoA C2-trimethyltridecanoyltransferase activity|protein binding|sterol binding	g.chr1:53444040G>A	M75884	CCDS572.1, CCDS30719.1, CCDS41338.1, CCDS44149.1, CCDS44150.1, CCDS53317.1, CCDS53318.1, CCDS53319.1	1p32	2010-08-20			ENSG00000116171	ENSG00000116171			10606	protein-coding gene	gene with protein product		184755				1703300, 1718316	Standard	NM_001007098		Approved		uc001cur.2	P22307	OTTHUMG00000008936	ENST00000528311.1:c.582+1G>A	1.37:g.53444040G>A						SCP2_ENST00000473584.1_Splice_Site|SCP2_ENST00000371513.5_Splice_Site|SCP2_ENST00000371509.4_Splice_Site|SCP2_ENST00000528311.1_Splice_Site|SCP2_ENST00000407246.2_Splice_Site		NM_002979.4	NP_002970.2	P22307	NLTP_HUMAN			9	993	+								A2RUE5|O75763|Q5JX11|Q9NTX8|Q9UG27	Splice_Site	SNP	ENST00000528311.1	37		CCDS53319.1	.	.	.	.	.	.	.	.	.	.	G	18.10	3.547414	0.65311	.	.	ENSG00000116171	ENST00000371514;ENST00000528311;ENST00000371509;ENST00000407246;ENST00000371513;ENST00000529363	.	.	.	5.12	5.12	0.69794	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.3533	0.90345	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SCP2	53216628	1.000000	0.71417	0.926000	0.36857	0.617000	0.37484	8.536000	0.90627	2.651000	0.90000	0.650000	0.86243	.		0.313	SCP2-010	PUTATIVE	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000387558.1	NM_002979	Intron	20	26	0	0	0	1	0	20	26					A	53444040	G	A	53444040	5	1	435	1	0	0	0	0	0	0	1	0	13934	1275	44	3	860	3	SCP2	1	53444040	Splice_Site	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	182046	53444040	195806581	336	21261											
SCP2	6342	broad.mit.edu	37	chr1	53516312	53516312	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	aggcaaattgaaaatcactgGcaacatgggtctcgctatga	14	9	10	8	1	2	2	1	2	1	0	3	2	2	2	0	3	1	3	0	3	5	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:53516312G>A	ENST00000528311.1	+	15	1633	c.1337G>A	c.(1336-1338)gGc>gAc	p.G446D	SCP2_ENST00000371509.4_Missense_Mutation_p.G483D|SCP2_ENST00000371514.3_Missense_Mutation_p.G527D|SCP2_ENST00000407246.2_Missense_Mutation_p.G503D|SCP2_ENST00000408941.3_3'UTR|SCP2_ENST00000435345.2_Missense_Mutation_p.G123D|SCP2_ENST00000488965.1_3'UTR|SCP2_ENST00000430330.2_Missense_Mutation_p.G120D	NM_001193617.1	NP_001180546.1	Q9BX26	SYCP2_HUMAN	sterol carrier protein 2	0					female meiotic division (GO:0007143)|fertilization (GO:0009566)|male genitalia morphogenesis (GO:0048808)|male meiosis (GO:0007140)|negative regulation of apoptotic process (GO:0043066)|synaptonemal complex assembly (GO:0007130)	lateral element (GO:0000800)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	DNA binding (GO:0003677)			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(1)	15						AAAATCACTGGCAACATGGGT	0.378																																						ENST00000371514.3																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(1)	15						c.(1579-1581)gGc>gAc		sterol carrier protein 2							122	123	123					1																	53516312		2203	4300	6503	SO:0001583	missense	6342				bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase|lipid transport	mitochondrion|nucleus|peroxisomal matrix	propanoyl-CoA C-acyltransferase activity|propionyl-CoA C2-trimethyltridecanoyltransferase activity|protein binding|sterol binding	g.chr1:53516312G>A	M75884	CCDS572.1, CCDS30719.1, CCDS41338.1, CCDS44149.1, CCDS44150.1, CCDS53317.1, CCDS53318.1, CCDS53319.1	1p32	2010-08-20			ENSG00000116171	ENSG00000116171			10606	protein-coding gene	gene with protein product		184755				1703300, 1718316	Standard	NM_001007098		Approved		uc001cur.2	P22307	OTTHUMG00000008936	ENST00000528311.1:c.1337G>A	1.37:g.53516312G>A	ENSP00000434132:p.Gly446Asp					SCP2_ENST00000371509.4_Missense_Mutation_p.G483D|SCP2_ENST00000528311.1_Missense_Mutation_p.G446D|SCP2_ENST00000407246.2_Missense_Mutation_p.G503D|SCP2_ENST00000488965.1_3'UTR|SCP2_ENST00000408941.3_3'UTR|SCP2_ENST00000435345.2_Missense_Mutation_p.G123D|SCP2_ENST00000430330.2_Missense_Mutation_p.G120D	p.G527D	NM_002979.4	NP_002970.2	P22307	NLTP_HUMAN			16	1748	+			527			SCP2.		A2RUE5|O75763|Q5JX11|Q9NTX8|Q9UG27	Missense_Mutation	SNP	ENST00000528311.1	37	c.1580G>A	CCDS53319.1	.	.	.	.	.	.	.	.	.	.	G	27.9	4.873009	0.91664	.	.	ENSG00000116171	ENST00000371514;ENST00000528311;ENST00000371509;ENST00000407246;ENST00000430330;ENST00000435345	T;T;T;T;T;T	0.76578	-1.03;-1.03;-1.03;-1.03;-1.03;-1.03	5.76	5.76	0.90799	SCP2 sterol-binding domain (2);	0.000000	0.85682	D	0.000000	D	0.91576	0.7339	M	0.93854	3.465	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	D	0.92909	0.6346	10	0.87932	D	0	-11.1348	19.1135	0.93328	0.0:0.0:1.0:0.0	.	503;483;120;527	C9JC79;A6NM69;E1B6W5;P22307	.;.;.;NLTP_HUMAN	D	527;446;483;503;120;123	ENSP00000360569:G527D;ENSP00000434132:G446D;ENSP00000360564:G483D;ENSP00000384569:G503D;ENSP00000406636:G120D;ENSP00000396413:G123D	ENSP00000360564:G483D	G	+	2	0	SCP2	53288900	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	8.802000	0.91910	2.880000	0.98712	0.650000	0.86243	GGC		0.378	SCP2-010	PUTATIVE	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000387558.1	NM_002979		16	62	0	0	0	1	0	16	62					A	53516312	G	A	53516312	3	1	435	1	0	0	0	0	1	0	0	0	13934	1203	42	3	1666	3	SCP2	1	53516312	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	72272	53516312	195734309	337	21262											
PODN	127435	broad.mit.edu	37	chr1	53547765	53547765	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttggtgacatttccaaggacCgtggccgcttggggaaggaa	9	9	15	8	2	0	1	0	1	0	0	1	4	1	4	3	6	0	1	3	6	3	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:53547765C>T	ENST00000312553.5	+	10	1925	c.1918C>T	c.(1918-1920)Cgt>Tgt	p.R640C	PODN_ENST00000395871.2_Missense_Mutation_p.R498C|PODN_ENST00000371500.3_Missense_Mutation_p.R621C|RP11-334A14.5_ENST00000447867.1_RNA	NM_001199081.1|NM_153703.4	NP_001186010.1|NP_714914.2	Q7Z5L7	PODN_HUMAN	podocan	592					negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	collagen binding (GO:0005518)			breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						TTCCAAGGACCGTGGCCGCTT	0.547																																						ENST00000371500.3																			0				breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						c.(1861-1863)Cgt>Tgt		podocan							79	76	77					1																	53547765		2203	4300	6503	SO:0001583	missense	127435				negative regulation of cell migration|negative regulation of cell proliferation	cytoplasm|extracellular space|proteinaceous extracellular matrix	collagen binding	g.chr1:53547765C>T	AY313607	CCDS573.1, CCDS55601.1, CCDS55602.1	1p32.3	2008-02-05			ENSG00000174348	ENSG00000174348		"Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"	23174	protein-coding gene	gene with protein product	"podocan proteoglycan"	608661					Standard	NM_153703		Approved	PCAN, PODOCAN, MGC24995, SLRR5A	uc010onr.2	Q7Z5L7	OTTHUMG00000008934	ENST00000312553.5:c.1918C>T	1.37:g.53547765C>T	ENSP00000308315:p.Arg640Cys					PODN_ENST00000312553.5_Missense_Mutation_p.R640C|PODN_ENST00000395871.2_Missense_Mutation_p.R498C|RP11-334A14.5_ENST00000447867.1_RNA	p.R621C	NM_001199080.1	NP_001186009.1	Q7Z5L7	PODN_HUMAN			12	2202	+			592					B4DKN5|B4E373|Q5VVZ2|Q5VVZ3|Q6PIR3|Q6UXL8|Q8N641	Missense_Mutation	SNP	ENST00000312553.5	37	c.1861C>T	CCDS573.1	.	.	.	.	.	.	.	.	.	.	C	17.23	3.337294	0.60963	.	.	ENSG00000174348	ENST00000371500;ENST00000395871;ENST00000312553	T;T;T	0.60171	0.91;0.21;0.99	4.63	4.63	0.57726	.	0.885835	0.09948	N	0.735045	T	0.44787	0.1310	N	0.08118	0	0.34450	D	0.700523	D;P;D	0.69078	0.997;0.954;0.995	P;B;P	0.51999	0.687;0.319;0.533	T	0.54166	-0.8334	10	0.87932	D	0	.	3.997	0.09563	0.1757:0.587:0.1483:0.089	.	498;621;640	Q7Z5L7-4;Q7Z5L7-2;Q7Z5L7-3	.;.;.	C	621;498;640	ENSP00000360555:R621C;ENSP00000379212:R498C;ENSP00000308315:R640C	ENSP00000308315:R640C	R	+	1	0	PODN	53320353	0.827000	0.29292	0.986000	0.45419	0.976000	0.68499	2.548000	0.45794	2.277000	0.76020	0.655000	0.94253	CGT		0.547	PODN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000024735.1	NM_153703		18	23	0	0	0	1	0	18	23					T	53547765	C	T	53547765	3	4	435	1	0	0	0	0	1	0	0	0	12178	652	23	2	1956	2	PODN	1	53547765	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	31453	53547765	195702856	338	21263											
CPT2	1376	broad.mit.edu	37	chr1	53679043	53679043	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catacgggcagataaaccacAatgtcctgtccacgagcaca	14	6	8	13	2	0	1	0	0	0	1	2	2	2	1	3	1	3	2	3	1	4	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:53679043A>G	ENST00000371486.3	+	5	2268	c.1753A>G	c.(1753-1755)Aat>Gat	p.N585D	C1orf123_ENST00000470385.1_5'Flank|RP5-1024G6.2_ENST00000452466.1_RNA	NM_000098.2	NP_000089.1	P23786	CPT2_HUMAN	carnitine palmitoyltransferase 2	585					carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	carnitine O-palmitoyltransferase activity (GO:0004095)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	15					L-Carnitine(DB00583)|Perhexiline(DB01074)	GATAAACCACAATGTCCTGTC	0.552																																						ENST00000371486.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	15						c.(1753-1755)Aat>Gat		carnitine palmitoyltransferase 2	L-Carnitine(DB00583)|Perhexiline(DB01074)						148	135	139					1																	53679043		2203	4300	6503	SO:0001583	missense	1376				carnitine shuttle|fatty acid beta-oxidation|regulation of fatty acid oxidation	mitochondrial inner membrane	carnitine O-palmitoyltransferase activity	g.chr1:53679043A>G	BC002445	CCDS575.1	1p32.3	2014-01-09	2009-03-04		ENSG00000157184	ENSG00000157184	2.3.1.21		2330	protein-coding gene	gene with protein product		600650	"carnitine palmitoyltransferase II"	CPT1		1339389	Standard	NM_000098		Approved	CPTASE	uc001cvb.4	P23786	OTTHUMG00000008942	ENST00000371486.3:c.1753A>G	1.37:g.53679043A>G	ENSP00000360541:p.Asn585Asp					RP5-1024G6.2_ENST00000452466.1_RNA	p.N585D	NM_000098.2	NP_000089.1	P23786	CPT2_HUMAN			5	2268	+			585					B2R6S0|Q5SW68|Q9BQ26	Missense_Mutation	SNP	ENST00000371486.3	37	c.1753A>G	CCDS575.1	.	.	.	.	.	.	.	.	.	.	A	20.9	4.061600	0.76187	.	.	ENSG00000157184	ENST00000371486	D	0.96522	-4.04	5.9	5.9	0.94986	.	0.000000	0.85682	D	0.000000	D	0.97458	0.9168	M	0.64260	1.97	0.80722	D	1	D	0.67145	0.996	D	0.74674	0.984	D	0.97109	0.9803	10	0.35671	T	0.21	-17.3929	16.3322	0.83039	1.0:0.0:0.0:0.0	.	585	P23786	CPT2_HUMAN	D	585	ENSP00000360541:N585D	ENSP00000360541:N585D	N	+	1	0	CPT2	53451631	1.000000	0.71417	1.000000	0.80357	0.529000	0.34654	9.253000	0.95501	2.251000	0.74343	0.528000	0.53228	AAT		0.552	CPT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024757.1	NM_000098		35	83	0	0	0	1	0	35	83					G	53679043	A	G	53679043	3	3	435	1	0	0	0	0	1	0	0	0	3834	130	5	4	1771	4	CPT2	1	53679043	Missense_Mutation	SNP	A	TCGA-XK-AAIW-01A-11D-A41K-08	131278	53679043	195571578	339	21264											
LRP8	7804	broad.mit.edu	37	chr1	53736988	53736988	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cagtgcagatgtgtgagcagCcgccattgttgtgcagacac	9	9	13	10	1	0	3	0	1	0	2	0	3	0	3	2	0	4	4	2	0	0	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:53736988C>T	ENST00000306052.6	-	7	1138	c.1037G>A	c.(1036-1038)gGc>gAc	p.G346D	LRP8_ENST00000347547.2_Missense_Mutation_p.G176D|LRP8_ENST00000354412.3_Missense_Mutation_p.G217D|LRP8_ENST00000371454.2_Missense_Mutation_p.G346D|LRP8_ENST00000465675.1_5'UTR|RP4-784A16.1_ENST00000432653.1_RNA	NM_004631.4	NP_004622.2	Q14114	LRP8_HUMAN	low density lipoprotein receptor-related protein 8, apolipoprotein e receptor	346	EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00076}.				ammon gyrus development (GO:0021541)|blood coagulation (GO:0007596)|cellular response to cholesterol (GO:0071397)|cellular response to growth factor stimulus (GO:0071363)|cytokine-mediated signaling pathway (GO:0019221)|endocytosis (GO:0006897)|layer formation in cerebral cortex (GO:0021819)|lipid metabolic process (GO:0006629)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|phototransduction, visible light (GO:0007603)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendrite development (GO:1900006)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein tyrosine kinase activity (GO:0061098)|proteolysis (GO:0006508)|receptor-mediated endocytosis (GO:0006898)|reelin-mediated signaling pathway (GO:0038026)|regulation of synaptic transmission (GO:0050804)|response to drug (GO:0042493)|retinoid metabolic process (GO:0001523)|signal transduction (GO:0007165)	caveola (GO:0005901)|dendrite (GO:0030425)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|microtubule associated complex (GO:0005875)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|receptor complex (GO:0043235)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|high-density lipoprotein particle binding (GO:0008035)|reelin receptor activity (GO:0038025)|transmembrane signaling receptor activity (GO:0004888)|very-low-density lipoprotein particle receptor activity (GO:0030229)			endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(1)	21						GTGTGAGCAGCCGCCATTGTT	0.617																																						ENST00000306052.6																			0				endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(1)	21						c.(1036-1038)gGc>gAc		low density lipoprotein receptor-related protein 8, apolipoprotein e receptor							77	70	72					1																	53736988		2203	4300	6503	SO:0001583	missense	7804				cytokine-mediated signaling pathway|endocytosis|lipid metabolic process|platelet activation|proteolysis	caveola	calcium ion binding|very-low-density lipoprotein particle receptor activity	g.chr1:53736988C>T	D50678	CCDS578.1, CCDS579.1, CCDS580.1, CCDS30720.1	1p32.3	2013-05-29			ENSG00000157193	ENSG00000157193		"Low density lipoprotein receptors"	6700	protein-coding gene	gene with protein product		602600				8626535, 9079678	Standard	NM_004631		Approved	APOER2, MCI1, LRP-8, HSZ75190	uc001cvi.2	Q14114	OTTHUMG00000008924	ENST00000306052.6:c.1037G>A	1.37:g.53736988C>T	ENSP00000303634:p.Gly346Asp					LRP8_ENST00000347547.2_Missense_Mutation_p.G176D|LRP8_ENST00000354412.3_Missense_Mutation_p.G217D|LRP8_ENST00000465675.1_5'UTR|LRP8_ENST00000371454.2_Missense_Mutation_p.G346D	p.G346D	NM_004631.4	NP_004622.2	Q14114	LRP8_HUMAN			7	1138	-			346			EGF-like 1.		B1AMT6|B1AMT7|B1AMT8|O14968|Q86V27|Q99876|Q9BR78	Missense_Mutation	SNP	ENST00000306052.6	37	c.1037G>A	CCDS578.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.17|15.17	2.755066|2.755066	0.49362|0.49362	.|.	.|.	ENSG00000157193|ENSG00000157193	ENST00000475501|ENST00000306052;ENST00000371454;ENST00000354412;ENST00000347547	.|D;D;D;D	.|0.98192	.|-4.78;-4.78;-4.78;-4.78	5.01|5.01	4.1|4.1	0.47936|0.47936	.|Growth factor, receptor (1);Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	.|.	.|.	.|.	.|.	D|D	0.98595|0.98595	0.9530|0.9530	M|M	0.72479|0.72479	2.2|2.2	0.80722|0.80722	D|D	1|1	.|D;D;D;D	.|0.89917	.|1.0;1.0;0.991;0.999	.|D;D;P;D	.|0.97110	.|0.998;1.0;0.902;0.999	D|D	0.99577|0.99577	1.0972|1.0972	5|9	.|0.87932	.|D	.|0	.|.	13.5075|13.5075	0.61491|0.61491	0.0:0.9251:0.0:0.0749|0.0:0.9251:0.0:0.0749	.|.	.|217;176;346;346	.|Q14114-2;Q14114-4;Q14114-3;Q14114	.|.;.;.;LRP8_HUMAN	T|D	35|346;346;217;176	.|ENSP00000303634:G346D;ENSP00000360509:G346D;ENSP00000346391:G217D;ENSP00000334522:G176D	.|ENSP00000303634:G346D	A|G	-|-	1|2	0|0	LRP8|LRP8	53509576|53509576	1.000000|1.000000	0.71417|0.71417	0.954000|0.954000	0.39281|0.39281	0.000000|0.000000	0.00434|0.00434	7.609000|7.609000	0.82925|0.82925	1.343000|1.343000	0.45638|0.45638	-0.379000|-0.379000	0.06801|0.06801	GCT|GGC		0.617	LRP8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000024699.1	NM_004631		21	25	0	0	0	1	0	21	25					T	53736988	C	T	53736988	3	4	435	1	0	0	0	0	1	0	0	0	8963	739	26	3	1906	3	LRP8	1	53736988	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	57945	53736988	195513633	340	21265											
C1orf175	374977	broad.mit.edu	37	chr1	55118841	55118841	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cctggtgtctgaaaacacccCcagacctgatgacagcagag	12	6	10	13	0	1	5	0	3	1	2	1	5	1	5	4	1	2	1	4	1	2	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:55118841C>T	ENST00000421030.2	+	3	527	c.242C>T	c.(241-243)cCc>cTc	p.P81L	MROH7-TTC4_ENST00000414150.2_Missense_Mutation_p.P81L|MROH7_ENST00000472987.1_3'UTR|MROH7_ENST00000409996.1_Intron|MROH7_ENST00000545244.1_Intron|MROH7_ENST00000339553.5_Missense_Mutation_p.P81L|MROH7_ENST00000395690.2_Missense_Mutation_p.P81L|MROH7_ENST00000454855.2_Intron	NM_001039464.2	NP_001034553	Q68CQ1	MROH7_HUMAN	maestro heat-like repeat family member 7	81						extracellular space (GO:0005615)|integral component of membrane (GO:0016021)											GAAAACACCCCCAGACCTGAT	0.542																																						ENST00000414150.2																			0											c.(241-243)cCc>cTc		maestro heat-like repeat family member 7							70	70	70					1																	55118841		1939	4119	6058	SO:0001583	missense	374977							g.chr1:55118841C>T	AL832492	CCDS41342.2	1p32.3	2012-12-19	2012-12-19	2012-12-19	ENSG00000184313	ENSG00000184313		"maestro heat-like repeat containing"	24802	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 175", "HEAT repeat containing 8"	C1orf175, HEATR8		12477932	Standard	NM_001039464		Approved	FLJ46354	uc010ooe.1	Q68CQ1	OTTHUMG00000009890	ENST00000421030.2:c.242C>T	1.37:g.55118841C>T	ENSP00000396622:p.Pro81Leu					MROH7_ENST00000545244.1_Intron|MROH7_ENST00000395690.2_Missense_Mutation_p.P81L|MROH7_ENST00000454855.2_Intron|MROH7_ENST00000472987.1_3'UTR|MROH7_ENST00000409996.1_Intron|MROH7_ENST00000421030.2_Missense_Mutation_p.P81L|MROH7_ENST00000339553.5_Missense_Mutation_p.P81L	p.P81L							3	520	+								A0AUX8|Q5TA99|Q6ZP40|Q6ZRH6|Q8N311|Q8NA14	Missense_Mutation	SNP	ENST00000421030.2	37	c.242C>T	CCDS41342.2	.	.	.	.	.	.	.	.	.	.	C	14.82	2.650525	0.47362	.	.	ENSG00000184313	ENST00000421030;ENST00000414867;ENST00000339553;ENST00000395690	T;T;T	0.03496	4.44;3.91;3.92	3.21	0.0824	0.14428	.	1.073000	0.07422	N	0.894147	T	0.03477	0.0100	L	0.29908	0.895	0.24154	N	0.995684	B;B;B	0.22909	0.077;0.004;0.073	B;B;B	0.26770	0.017;0.005;0.073	T	0.47071	-0.9145	10	0.87932	D	0	.	3.9158	0.09222	0.3883:0.4879:0.0:0.1238	.	81;81;81	F8W8P2;Q68CQ1;Q68CQ1-4	.;HEAT8_HUMAN;.	L	81	ENSP00000396622:P81L;ENSP00000343211:P81L;ENSP00000379044:P81L	ENSP00000343211:P81L	P	+	2	0	HEATR8	54891429	0.001000	0.12720	0.332000	0.25469	0.062000	0.15995	0.941000	0.29005	0.035000	0.15519	0.556000	0.70494	CCC		0.542	MROH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346978.1	NM_198547		23	39	0	0	0	1	0	23	39					T	55118841	C	T	55118841	3	4	435	1	0	0	0	0	1	0	0	0	2016	623	22	3	244	3	C1orf175	1	55118841	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	1381853	55118841	194131780	341	21266											
C1orf175	374977	broad.mit.edu	37	chr1	55168415	55168415	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gtggccaaaatttgcaagtgCcttgtgagtgctcccagaga	10	10	12	9	0	0	2	0	1	0	1	1	3	1	2	3	1	3	2	3	1	3	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:55168415C>T	ENST00000421030.2	+	21	3846	c.3561C>T	c.(3559-3561)tgC>tgT	p.C1187C	MROH7-TTC4_ENST00000414150.2_Silent_p.C1187C|MROH7_ENST00000409996.1_Silent_p.C755C|MROH7_ENST00000454855.2_Silent_p.C705C	NM_001039464.2	NP_001034553	Q68CQ1	MROH7_HUMAN	maestro heat-like repeat family member 7	1187						extracellular space (GO:0005615)|integral component of membrane (GO:0016021)											TTTGCAAGTGCCTTGTGAGTG	0.493																																						ENST00000414150.2																			0											c.(3559-3561)tgC>tgT		maestro heat-like repeat family member 7							78	83	81					1																	55168415		2108	4239	6347	SO:0001819	synonymous_variant	374977							g.chr1:55168415C>T	AL832492	CCDS41342.2	1p32.3	2012-12-19	2012-12-19	2012-12-19	ENSG00000184313	ENSG00000184313		"maestro heat-like repeat containing"	24802	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 175", "HEAT repeat containing 8"	C1orf175, HEATR8		12477932	Standard	NM_001039464		Approved	FLJ46354	uc010ooe.1	Q68CQ1	OTTHUMG00000009890	ENST00000421030.2:c.3561C>T	1.37:g.55168415C>T						MROH7_ENST00000454855.2_Silent_p.C705C|MROH7_ENST00000409996.1_Silent_p.C755C|MROH7_ENST00000421030.2_Silent_p.C1187C	p.C1187C							21	3839	+								A0AUX8|Q5TA99|Q6ZP40|Q6ZRH6|Q8N311|Q8NA14	Silent	SNP	ENST00000421030.2	37	c.3561C>T	CCDS41342.2																																																																																				0.493	MROH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346978.1	NM_198547		21	31	0	0	0	1	0	21	31					T	55168415	C	T	55168415	2	4	435	1	0	0	0	0	0	0	0	1	2016	747	26	3		3	C1orf175	1	55168415	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	49574	55168415	194082206	342	21267											
TTC4	7268	broad.mit.edu	37	chr1	55207181	55207181	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggagaaaggtgtaccagataCgatgactaagccagggcccc	13	5	13	10	1	0	3	0	1	0	2	0	5	0	3	4	3	3	1	4	3	4	3	rs200228539		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:55207181C>T	ENST00000371281.3	+	10	1246	c.1159C>T	c.(1159-1161)Cga>Tga	p.R387*	MROH7-TTC4_ENST00000414150.2_3'UTR|TTC4_ENST00000371284.5_3'UTR	NM_004623.4	NP_004614.3	O95801	TTC4_HUMAN	tetratricopeptide repeat domain 4	387										breast(2)|endometrium(3)|kidney(1)|lung(2)|stomach(1)	9						GTACCAGATACGATGACTAAG	0.512													C|||	1	0.000199681	0	0	5008	,	,		19064	0.001		0	False		,,,				2504	0					ENST00000371281.3																			0				breast(2)|endometrium(3)|kidney(1)|lung(2)|stomach(1)	9						c.(1159-1161)Cga>Tga		tetratricopeptide repeat domain 4							81	84	83					1																	55207181		2203	4300	6503	SO:0001587	stop_gained	7268						binding	g.chr1:55207181C>T		CCDS596.1	1p32	2013-01-11			ENSG00000243725	ENSG00000243725		"Tetratricopeptide (TTC) repeat domain containing"	12394	protein-coding gene	gene with protein product		606753				9933562	Standard	NM_004623		Approved	MGC5097, FLJ41930	uc001cxx.4	O95801	OTTHUMG00000009914	ENST00000371281.3:c.1159C>T	1.37:g.55207181C>T	ENSP00000360329:p.Arg387*					TTC4_ENST00000371284.5_3'UTR|MROH7_ENST00000414150.2_3'UTR	p.R387*	NM_004623.4	NP_004614.3	O95801	TTC4_HUMAN			10	1246	+			387					Q53Y95|Q5TA96|Q9H3I2	Nonsense_Mutation	SNP	ENST00000371281.3	37	c.1159C>T	CCDS596.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	17.64	3.439464	0.63067	.	.	ENSG00000243725	ENST00000371281;ENST00000371284	.	.	.	5.1	-0.219	0.13135	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	0.999991	.	.	.	.	.	.	.	.	.	.	0.12430	T	0.62	.	3.4176	0.07381	0.3546:0.4306:0.0803:0.1344	.	.	.	.	X	387;398	.	ENSP00000360329:R387X	R	+	1	2	TTC4	54979769	0.860000	0.29831	0.124000	0.21820	0.193000	0.23685	1.201000	0.32259	-0.108000	0.12066	-1.059000	0.02297	CGA		0.512	TTC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027432.1	NM_004623		25	52	0	0	0	1	0	25	52					T	55207181	C	T	55207181	4	4	435	1	0	0	0	0	0	1	0	0	16707	528	19	1	1197	1	TTC4	1	55207181	Nonsense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	38766	55207181	194043440	343	21268											
PARS2	25973	broad.mit.edu	37	chr1	55224719	55224719	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acacacgagacagcagcaggCgccgccctcttcttggggca	9	5	12	15	3	2	1	0	0	2	1	2	2	2	1	2	3	2	3	2	3	0	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:55224719C>T	ENST00000371279.3	-	2	198	c.116G>A	c.(115-117)cGc>cAc	p.R39H		NM_152268.3	NP_689481.2	Q7L3T8	SYPM_HUMAN	prolyl-tRNA synthetase 2, mitochondrial (putative)	39					gene expression (GO:0010467)|prolyl-tRNA aminoacylation (GO:0006433)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|proline-tRNA ligase activity (GO:0004827)			breast(1)|endometrium(3)|kidney(2)|lung(4)|ovary(2)|prostate(2)|skin(1)	15					L-Proline(DB00172)	CAGCAGCAGGCGCCGCCCTCT	0.607																																						ENST00000371279.3																			0				breast(1)|endometrium(3)|kidney(2)|lung(4)|ovary(2)|prostate(2)|skin(1)	15						c.(115-117)cGc>cAc		prolyl-tRNA synthetase 2, mitochondrial (putative)	L-Proline(DB00172)						33	33	33					1																	55224719		2203	4300	6503	SO:0001583	missense	25973				prolyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|proline-tRNA ligase activity	g.chr1:55224719C>T	AK025585	CCDS597.1	1p32.2	2011-07-01	2007-02-23		ENSG00000162396	ENSG00000162396	6.1.1.15	"Aminoacyl tRNA synthetases / Class II"	30563	protein-coding gene	gene with protein product	"proline tRNA ligase 2, mitochondrial (putative)"	612036				15779907	Standard	NM_152268		Approved	DKFZp727A071	uc001cxy.3	Q7L3T8	OTTHUMG00000009915	ENST00000371279.3:c.116G>A	1.37:g.55224719C>T	ENSP00000360327:p.Arg39His						p.R39H	NM_152268.3	NP_689481.2	Q7L3T8	SYPM_HUMAN			2	198	-			39					A8K0W4|Q9H6S5|Q9UFT1	Missense_Mutation	SNP	ENST00000371279.3	37	c.116G>A	CCDS597.1	.	.	.	.	.	.	.	.	.	.	C	7.644	0.681541	0.14907	.	.	ENSG00000162396	ENST00000371279	T	0.47528	0.84	5.1	1.06	0.20224	.	0.414217	0.25526	N	0.030071	T	0.40272	0.1110	M	0.69823	2.125	0.36904	D	0.890576	B	0.24317	0.101	B	0.14023	0.01	T	0.37009	-0.9724	10	0.72032	D	0.01	-10.2981	4.6579	0.12628	0.1524:0.6082:0.0:0.2394	.	39	Q7L3T8	SYPM_HUMAN	H	39	ENSP00000360327:R39H	ENSP00000360327:R39H	R	-	2	0	PARS2	54997307	1.000000	0.71417	0.987000	0.45799	0.006000	0.05464	2.032000	0.41127	0.169000	0.19679	-0.218000	0.12543	CGC		0.607	PARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027436.1	NM_152268		7	11	0	0	0	1	0	7	11					T	55224719	C	T	55224719	3	4	435	1	0	0	0	0	1	0	0	0	11467	768	27	1	1315	1	PARS2	1	55224719	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	17538	55224719	194025902	344	21269											
C1orf177	163747	broad.mit.edu	37	chr1	55277779	55277779	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accttgagacatatgtggcaCgatccgtcggcacccgcggc	8	7	12	14	5	0	1	0	1	0	1	2	3	1	1	3	3	0	2	3	3	1	2	rs373289406		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:55277779C>T	ENST00000371273.3	+	6	694	c.679C>T	c.(679-681)Cga>Tga	p.R227*	C1orf177_ENST00000358193.3_Nonsense_Mutation_p.R227*	NM_001110533.1	NP_001104003	Q3ZCV2	CA177_HUMAN	chromosome 1 open reading frame 177	227										breast(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(6)|prostate(2)	17						ATATGTGGCACGATCCGTCGG	0.587																																						ENST00000358193.3																			0				breast(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(6)|prostate(2)	17						c.(679-681)Cga>Tga		chromosome 1 open reading frame 177		C	stop/ARG,stop/ARG	0,4406		0,0,2203	100	100	100		679,679	0.4	0	1		100	2,8598	2.2+/-6.3	0,2,4298	no	stop-gained,stop-gained	C1orf177	NM_001110533.1,NM_152607.2	,	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	,	227/419,227/415	55277779	2,13004	2203	4300	6503	SO:0001587	stop_gained	163747							g.chr1:55277779C>T	AK097520	CCDS599.1, CCDS44153.1	1p32.3	2012-07-25			ENSG00000162398	ENSG00000162398			26854	protein-coding gene	gene with protein product							Standard	NM_152607		Approved	FLJ40201	uc001cyb.4	Q3ZCV2	OTTHUMG00000009986	ENST00000371273.3:c.679C>T	1.37:g.55277779C>T	ENSP00000360320:p.Arg227*					C1orf177_ENST00000371273.3_Nonsense_Mutation_p.R227*	p.R227*	NM_152607.2	NP_689820.2	Q3ZCV2	CA177_HUMAN			6	733	+			227					B7WPL2|Q8N7Y9	Nonsense_Mutation	SNP	ENST00000371273.3	37	c.679C>T	CCDS44153.1	.	.	.	.	.	.	.	.	.	.	C	15.42	2.827446	0.50845	0.0	2.33E-4	ENSG00000162398	ENST00000358193;ENST00000371273	.	.	.	5.06	0.369	0.16151	.	1.678450	0.03286	N	0.186974	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-9.1513	6.6555	0.22984	0.5594:0.3513:0.0:0.0893	.	.	.	.	X	227	.	ENSP00000350924:R227X	R	+	1	2	C1orf177	55050367	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.207000	0.17395	-0.236000	0.09753	0.462000	0.41574	CGA		0.587	C1orf177-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000027674.1	NM_152607		11	36	0	0	0	1	0	11	36					T	55277779	C	T	55277779	4	4	435	1	0	0	0	0	0	1	0	0	2017	528	19	1	701	1	C1orf177	1	55277779	Nonsense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	53060	55277779	193972842	345	21270											
C1orf177	163747	broad.mit.edu	37	chr1	55277797	55277797	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cacgatccgtcggcacccgcGgcccctatgacactttctct	6	9	8	18	5	1	1	0	1	1	0	4	2	2	1	4	2	0	1	4	2	1	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:55277797G>A	ENST00000371273.3	+	6	712	c.697G>A	c.(697-699)Ggc>Agc	p.G233S	C1orf177_ENST00000358193.3_Missense_Mutation_p.G233S	NM_001110533.1	NP_001104003	Q3ZCV2	CA177_HUMAN	chromosome 1 open reading frame 177	233										breast(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(6)|prostate(2)	17						CGGCACCCGCGGCCCCTATGA	0.572																																						ENST00000358193.3																			0				breast(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(6)|prostate(2)	17						c.(697-699)Ggc>Agc		chromosome 1 open reading frame 177							89	83	85					1																	55277797		2203	4300	6503	SO:0001583	missense	163747							g.chr1:55277797G>A	AK097520	CCDS599.1, CCDS44153.1	1p32.3	2012-07-25			ENSG00000162398	ENSG00000162398			26854	protein-coding gene	gene with protein product							Standard	NM_152607		Approved	FLJ40201	uc001cyb.4	Q3ZCV2	OTTHUMG00000009986	ENST00000371273.3:c.697G>A	1.37:g.55277797G>A	ENSP00000360320:p.Gly233Ser					C1orf177_ENST00000371273.3_Missense_Mutation_p.G233S	p.G233S	NM_152607.2	NP_689820.2	Q3ZCV2	CA177_HUMAN			6	751	+			233					B7WPL2|Q8N7Y9	Missense_Mutation	SNP	ENST00000371273.3	37	c.697G>A	CCDS44153.1	.	.	.	.	.	.	.	.	.	.	G	13.42	2.230451	0.39399	.	.	ENSG00000162398	ENST00000358193;ENST00000371273	T;T	0.23552	1.9;1.9	4.91	3.99	0.46301	.	0.423693	0.21357	N	0.075863	T	0.43634	0.1256	M	0.70275	2.135	0.09310	N	0.999997	D;D	0.76494	0.999;0.999	P;P	0.62382	0.838;0.901	T	0.26573	-1.0099	10	0.66056	D	0.02	0.2737	8.8629	0.35269	0.1041:0.0:0.8959:0.0	.	233;233	Q3ZCV2;Q3ZCV2-2	CA177_HUMAN;.	S	233	ENSP00000350924:G233S;ENSP00000360320:G233S	ENSP00000350924:G233S	G	+	1	0	C1orf177	55050385	0.203000	0.23435	0.017000	0.16124	0.043000	0.13939	1.498000	0.35660	1.057000	0.40506	0.462000	0.41574	GGC		0.572	C1orf177-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000027674.1	NM_152607		9	32	0	0	0	1	0	9	32					A	55277797	G	A	55277797	3	1	435	1	0	0	0	0	1	0	0	0	2017	1116	39	2	719	2	C1orf177	1	55277797	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	18	55277797	193972824	346	21271											
DHCR24	1718	broad.mit.edu	37	chr1	55340837	55340837	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagatgtgttggaacaggcCgtacttgtgggatgatgact	9	11	15	6	1	0	3	0	2	0	1	0	5	0	5	1	3	2	3	1	3	2	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:55340837C>T	ENST00000371269.3	-	4	639	c.541G>A	c.(541-543)Ggc>Agc	p.G181S	DHCR24_ENST00000535035.1_Missense_Mutation_p.G140S|DHCR24_ENST00000537443.1_Missense_Mutation_p.G13S	NM_014762.3	NP_055577.1	Q15392	DHC24_HUMAN	24-dehydrocholesterol reductase	181	FAD-binding PCMH-type. {ECO:0000255|PROSITE-ProRule:PRU00718}.				amyloid precursor protein catabolic process (GO:0042987)|apoptotic process (GO:0006915)|cell cycle arrest (GO:0007050)|cholesterol biosynthetic process (GO:0006695)|male genitalia development (GO:0030539)|membrane organization (GO:0061024)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|oxidation-reduction process (GO:0055114)|plasminogen activation (GO:0031639)|protein localization (GO:0008104)|Ras protein signal transduction (GO:0007265)|regulation of neuron death (GO:1901214)|response to hormone (GO:0009725)|response to oxidative stress (GO:0006979)|skin development (GO:0043588)|small molecule metabolic process (GO:0044281)|tissue development (GO:0009888)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	delta24(24-1) sterol reductase activity (GO:0000246)|delta24-sterol reductase activity (GO:0050614)|enzyme binding (GO:0019899)|flavin adenine dinucleotide binding (GO:0050660)|oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor (GO:0016628)|peptide antigen binding (GO:0042605)|UDP-N-acetylmuramate dehydrogenase activity (GO:0008762)			large_intestine(2)|liver(1)|lung(1)|pancreas(1)|prostate(1)|skin(1)	7						TGGAACAGGCCGTACTTGTGG	0.562																																					Pancreas(39;516 1021 24601 30715 32780)	ENST00000371269.3																			0				large_intestine(2)|liver(1)|lung(1)|pancreas(1)|prostate(1)|skin(1)	7						c.(541-543)Ggc>Agc		24-dehydrocholesterol reductase							194	136	156					1																	55340837		2203	4300	6503	SO:0001583	missense	1718				anti-apoptosis|apoptosis|cell cycle arrest|cholesterol biosynthetic process|negative regulation of caspase activity|neuroprotection|response to oxidative stress|skin development	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|nucleus	delta24-sterol reductase activity|enzyme binding|flavin adenine dinucleotide binding|peptide antigen binding	g.chr1:55340837C>T	AF261758	CCDS600.1	1p32.3	2008-02-05			ENSG00000116133	ENSG00000116133			2859	protein-coding gene	gene with protein product		606418				11519011	Standard	NM_014762		Approved	KIAA0018, seladin-1	uc001cyc.1	Q15392	OTTHUMG00000009989	ENST00000371269.3:c.541G>A	1.37:g.55340837C>T	ENSP00000360316:p.Gly181Ser					DHCR24_ENST00000537443.1_Missense_Mutation_p.G13S|DHCR24_ENST00000535035.1_Missense_Mutation_p.G140S	p.G181S	NM_014762.3	NP_055577.1	Q15392	DHC24_HUMAN			4	639	-			181			FAD-binding PCMH-type.		B7Z817|D3DQ51|Q9HBA8	Missense_Mutation	SNP	ENST00000371269.3	37	c.541G>A	CCDS600.1	.	.	.	.	.	.	.	.	.	.	C	35	5.545595	0.96488	.	.	ENSG00000116133	ENST00000371269;ENST00000537443;ENST00000535035	D;D;D	0.95342	-3.68;-3.68;-3.68	5.56	5.56	0.83823	FAD-linked oxidase, FAD-binding, subdomain 2 (1);FAD-binding, type 2 (2);FAD linked oxidase, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.97779	0.9271	M	0.89163	3.01	0.80722	D	1	D;D;D	0.89917	0.999;1.0;0.997	D;D;D	0.75484	0.986;0.986;0.962	D	0.98132	1.0431	10	0.87932	D	0	-7.9588	19.9047	0.97002	0.0:1.0:0.0:0.0	.	140;140;181	B7Z817;B7ZAV4;Q15392	.;.;DHC24_HUMAN	S	181;13;140	ENSP00000360316:G181S;ENSP00000439852:G13S;ENSP00000440191:G140S	ENSP00000360316:G181S	G	-	1	0	DHCR24	55113425	1.000000	0.71417	0.986000	0.45419	0.899000	0.52679	7.805000	0.86005	2.790000	0.95986	0.609000	0.83330	GGC		0.562	DHCR24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027680.1	NM_014762		17	41	0	0	0	1	0	17	41					T	55340837	C	T	55340837	3	4	435	1	0	0	0	0	1	0	0	0	4476	652	23	2	1033	2	DHCR24	1	55340837	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	63040	55340837	193909784	347	21272											
TMEM61	199964	broad.mit.edu	37	chr1	55451849	55451849	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtggttctggtggccgggaCgctctgcttcgcttggtgga	3	12	17	9	3	2	0	0	0	2	0	3	2	2	2	1	6	1	4	1	6	0	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:55451849C>T	ENST00000371268.3	+	2	369	c.95C>T	c.(94-96)aCg>aTg	p.T32M	RP11-12C17.2_ENST00000436960.1_RNA	NM_182532.1	NP_872338.1	Q8N0U2	TMM61_HUMAN	transmembrane protein 61	32						integral component of membrane (GO:0016021)				endometrium(1)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	4						GTGGCCGGGACGCTCTGCTTC	0.662																																						ENST00000371268.3																			0				endometrium(1)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	4						c.(94-96)aCg>aTg		transmembrane protein 61							51	52	51					1																	55451849		2203	4300	6503	SO:0001583	missense	199964					integral to membrane		g.chr1:55451849C>T	BC029775	CCDS601.1	1p32.3	2008-02-05			ENSG00000143001	ENSG00000143001			27296	protein-coding gene	gene with protein product						12477932	Standard	NM_182532		Approved		uc001cyd.3	Q8N0U2	OTTHUMG00000009991	ENST00000371268.3:c.95C>T	1.37:g.55451849C>T	ENSP00000360315:p.Thr32Met					RP11-12C17.2_ENST00000436960.1_RNA	p.T32M	NM_182532.1	NP_872338.1	Q8N0U2	TMM61_HUMAN			2	369	+			32						Missense_Mutation	SNP	ENST00000371268.3	37	c.95C>T	CCDS601.1	.	.	.	.	.	.	.	.	.	.	C	13.23	2.175522	0.38413	.	.	ENSG00000143001	ENST00000371268	T	0.56444	0.46	4.8	2.93	0.34026	.	0.000000	0.53938	D	0.000045	T	0.42359	0.1199	L	0.29908	0.895	0.25716	N	0.985424	D	0.56035	0.974	P	0.45681	0.49	T	0.33240	-0.9876	10	0.87932	D	0	-5.8569	9.4181	0.38534	0.0:0.8328:0.0:0.1672	.	32	Q8N0U2	TMM61_HUMAN	M	32	ENSP00000360315:T32M	ENSP00000360315:T32M	T	+	2	0	TMEM61	55224437	0.957000	0.32711	0.447000	0.26932	0.156000	0.22039	2.052000	0.41316	0.627000	0.30340	0.655000	0.94253	ACG		0.662	TMEM61-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027683.1	NM_182532		17	24	0	0	0	1	0	17	24					T	55451849	C	T	55451849	3	4	435	1	0	0	0	0	1	0	0	0	16185	536	19	1	101	1	TMEM61	1	55451849	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	111012	55451849	193798772	348	21273											
PCSK9	255738	broad.mit.edu	37	chr1	55521752	55521752	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggcgggtgggtacagccgcGtcctcaacgccgcctgccag	5	6	15	15	5	1	0	1	0	0	0	2	0	2	0	5	3	4	1	5	3	2	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:55521752G>A	ENST00000302118.5	+	6	1176	c.886G>A	c.(886-888)Gtc>Atc	p.V296I	PCSK9_ENST00000490692.1_3'UTR|PCSK9_ENST00000543384.1_Missense_Mutation_p.V96I	NM_174936.3	NP_777596.2	Q8NBP7	PCSK9_HUMAN	proprotein convertase subtilisin/kexin type 9	296	Peptidase S8.				apoptotic process (GO:0006915)|cellular response to insulin stimulus (GO:0032869)|cellular response to starvation (GO:0009267)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|kidney development (GO:0001822)|lipoprotein metabolic process (GO:0042157)|liver development (GO:0001889)|low-density lipoprotein particle receptor catabolic process (GO:0032802)|lysosomal transport (GO:0007041)|negative regulation of low-density lipoprotein particle clearance (GO:0010989)|negative regulation of receptor recycling (GO:0001920)|neurogenesis (GO:0022008)|neuron differentiation (GO:0030182)|phospholipid metabolic process (GO:0006644)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of receptor internalization (GO:0002092)|protein autoprocessing (GO:0016540)|proteolysis (GO:0006508)|regulation of low-density lipoprotein particle receptor catabolic process (GO:0032803)|regulation of neuron apoptotic process (GO:0043523)|regulation of receptor activity (GO:0010469)|triglyceride metabolic process (GO:0006641)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle (GO:0030134)|extracellular space (GO:0005615)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|late endosome (GO:0005770)|lysosome (GO:0005764)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)	apolipoprotein binding (GO:0034185)|apolipoprotein receptor binding (GO:0034190)|low-density lipoprotein particle binding (GO:0030169)|low-density lipoprotein particle receptor binding (GO:0050750)|poly(A) RNA binding (GO:0044822)|protein self-association (GO:0043621)|serine-type endopeptidase activity (GO:0004252)|sodium channel inhibitor activity (GO:0019871)|very-low-density lipoprotein particle binding (GO:0034189)|very-low-density lipoprotein particle receptor binding (GO:0070326)			NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(1)|liver(2)|lung(4)|ovary(3)|prostate(3)|skin(1)|urinary_tract(1)	32						GTACAGCCGCGTCCTCAACGC	0.677																																					Pancreas(137;1454 1827 5886 22361 42375)	ENST00000302118.5																			0				NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(1)|liver(2)|lung(4)|ovary(3)|prostate(3)|skin(1)|urinary_tract(1)	32						c.(886-888)Gtc>Atc		proprotein convertase subtilisin/kexin type 9							15	18	17					1																	55521752		2191	4294	6485	SO:0001583	missense	255738				cellular response to insulin stimulus|cellular response to starvation|cholesterol homeostasis|cholesterol metabolic process|kidney development|liver development|low-density lipoprotein particle receptor catabolic process|lysosomal transport|negative regulation of catalytic activity|negative regulation of low-density lipoprotein particle clearance|negative regulation of receptor recycling|neuron differentiation|positive regulation of neuron apoptosis|positive regulation of receptor internalization|protein autoprocessing|regulation of receptor activity	extracellular space|late endosome|lysosome|perinuclear region of cytoplasm	apolipoprotein receptor binding|identical protein binding|low-density lipoprotein particle receptor binding|serine-type endopeptidase activity|very-low-density lipoprotein particle receptor binding	g.chr1:55521752G>A	AX207686	CCDS603.1	1p34.1-p32	2014-09-17	2003-05-13		ENSG00000169174	ENSG00000169174			20001	protein-coding gene	gene with protein product		607786	"hypercholesterolemia, autosomal dominant 3"	HCHOLA3		12552133, 12730697	Standard	NM_174936		Approved	NARC-1, FH3	uc001cyf.2	Q8NBP7	OTTHUMG00000008136	ENST00000302118.5:c.886G>A	1.37:g.55521752G>A	ENSP00000303208:p.Val296Ile					PCSK9_ENST00000543384.1_Missense_Mutation_p.V96I|PCSK9_ENST00000490692.1_3'UTR	p.V296I	NM_174936.3	NP_777596.2	Q8NBP7	PCSK9_HUMAN			6	1176	+			296			Peptidase S8.		A8T640|C0JYY9|Q5PSM5|Q5SZQ2	Missense_Mutation	SNP	ENST00000302118.5	37	c.886G>A	CCDS603.1	.	.	.	.	.	.	.	.	.	.	G	12.43	1.934715	0.34189	.	.	ENSG00000169174	ENST00000302118;ENST00000543384	D;D	0.86562	-2.14;-2.14	3.88	1.01	0.19927	Peptidase S8/S53, subtilisin/kexin/sedolisin (3);	1.695090	0.03557	N	0.226490	T	0.74824	0.3767	N	0.11756	0.17	0.09310	N	1	B	0.10296	0.003	B	0.04013	0.001	T	0.60850	-0.7181	10	0.17369	T	0.5	-5.2683	6.0801	0.19936	0.7251:0.0:0.2749:0.0	.	296	Q8NBP7	PCSK9_HUMAN	I	296;96	ENSP00000303208:V296I;ENSP00000441859:V96I	ENSP00000303208:V296I	V	+	1	0	PCSK9	55294340	0.002000	0.14202	0.078000	0.20375	0.923000	0.55619	0.993000	0.29680	0.461000	0.27071	0.563000	0.77884	GTC		0.677	PCSK9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022280.1	NM_174936		4	7	0	0	0	1	0	4	7					A	55521752	G	A	55521752	3	1	435	1	0	0	0	0	1	0	0	0	11606	1145	40	1	908	1	PCSK9	1	55521752	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	69903	55521752	193728869	349	21274											
USP24	23358	broad.mit.edu	37	chr1	55537593	55537593	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagctgtggcatacgctaacGtgtcctgcagaagattcaaa	13	9	10	9	2	1	2	1	0	0	2	2	2	2	2	1	1	4	4	1	1	5	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:55537593G>A	ENST00000294383.6	-	67	7693	c.7694C>T	c.(7693-7695)aCg>aTg	p.T2565M	USP24_ENST00000407756.1_Missense_Mutation_p.T2405M|USP24_ENST00000484447.1_5'UTR	NM_015306.2	NP_056121.2	Q9UPU5	UBP24_HUMAN	ubiquitin specific peptidase 24	2565					ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type peptidase activity (GO:0008234)|ubiquitinyl hydrolase activity (GO:0036459)			breast(4)|cervix(1)|endometrium(8)|kidney(13)|large_intestine(7)|lung(16)|ovary(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	60						ATACGCTAACGTGTCCTGCAG	0.493											OREG0013507	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000294383.6																			0				breast(4)|cervix(1)|endometrium(8)|kidney(13)|large_intestine(7)|lung(16)|ovary(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	60						c.(7693-7695)aCg>aTg		ubiquitin specific peptidase 24							67	64	65					1																	55537593		2062	4209	6271	SO:0001583	missense	23358				ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr1:55537593G>A	AB028980	CCDS44154.1, CCDS44154.2	1p32.3	2008-04-11	2005-08-08		ENSG00000162402	ENSG00000162402		"Ubiquitin-specific peptidases"	12623	protein-coding gene	gene with protein product		610569	"ubiquitin specific protease 24"			12838346	Standard	NM_015306		Approved	KIAA1057	uc021onw.1	Q9UPU5	OTTHUMG00000008135	ENST00000294383.6:c.7694C>T	1.37:g.55537593G>A	ENSP00000294383:p.Thr2565Met		OREG0013507	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1008	USP24_ENST00000484447.1_5'UTR|USP24_ENST00000407756.1_Missense_Mutation_p.T2405M	p.T2565M	NM_015306.2	NP_056121.2	Q9UPU5	UBP24_HUMAN			67	7693	-			2565					Q6ZSY2|Q8N2Y4|Q9NXD1	Missense_Mutation	SNP	ENST00000294383.6	37	c.7694C>T	CCDS44154.2	.	.	.	.	.	.	.	.	.	.	G	22.3	4.265829	0.80358	.	.	ENSG00000162402	ENST00000294383;ENST00000407756	T;T	0.04603	3.59;3.63	4.56	4.56	0.56223	.	0.000000	0.64402	D	0.000001	T	0.19805	0.0476	M	0.62723	1.935	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.00500	-1.1703	10	0.72032	D	0.01	.	17.5474	0.87866	0.0:0.0:1.0:0.0	.	2405	B7WPF4	.	M	2565;2405	ENSP00000294383:T2565M;ENSP00000385700:T2405M	ENSP00000294383:T2565M	T	-	2	0	USP24	55310181	1.000000	0.71417	0.991000	0.47740	0.817000	0.46193	9.024000	0.93689	2.374000	0.81015	0.655000	0.94253	ACG		0.493	USP24-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022275.2			7	5	0	0	0	1	0	7	5					A	55537593	G	A	55537593	3	1	435	1	0	0	0	0	1	0	0	0	17052	1145	40	1	176	1	USP24	1	55537593	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	15841	55537593	193713028	350	21275											
USP24	23358	broad.mit.edu	37	chr1	55562659	55562659	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gaaggaatagtagtggcctgCgtgtgcctgcccactgtgta	8	10	14	9	1	0	0	0	0	0	0	0	2	0	1	3	2	3	2	3	2	5	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:55562659C>T	ENST00000294383.6	-	49	5901	c.5902G>A	c.(5902-5904)Gca>Aca	p.A1968T	USP24_ENST00000407756.1_Missense_Mutation_p.A1808T	NM_015306.2	NP_056121.2	Q9UPU5	UBP24_HUMAN	ubiquitin specific peptidase 24	1968	USP.				ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type peptidase activity (GO:0008234)|ubiquitinyl hydrolase activity (GO:0036459)			breast(4)|cervix(1)|endometrium(8)|kidney(13)|large_intestine(7)|lung(16)|ovary(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	60						TAGTGGCCTGCGTGTGCCTGC	0.517																																						ENST00000294383.6																			0				breast(4)|cervix(1)|endometrium(8)|kidney(13)|large_intestine(7)|lung(16)|ovary(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	60						c.(5902-5904)Gca>Aca		ubiquitin specific peptidase 24							75	76	76					1																	55562659		2107	4239	6346	SO:0001583	missense	23358				ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr1:55562659C>T	AB028980	CCDS44154.1, CCDS44154.2	1p32.3	2008-04-11	2005-08-08		ENSG00000162402	ENSG00000162402		"Ubiquitin-specific peptidases"	12623	protein-coding gene	gene with protein product		610569	"ubiquitin specific protease 24"			12838346	Standard	NM_015306		Approved	KIAA1057	uc021onw.1	Q9UPU5	OTTHUMG00000008135	ENST00000294383.6:c.5902G>A	1.37:g.55562659C>T	ENSP00000294383:p.Ala1968Thr					USP24_ENST00000407756.1_Missense_Mutation_p.A1808T	p.A1968T	NM_015306.2	NP_056121.2	Q9UPU5	UBP24_HUMAN			49	5901	-			1968					Q6ZSY2|Q8N2Y4|Q9NXD1	Missense_Mutation	SNP	ENST00000294383.6	37	c.5902G>A	CCDS44154.2	.	.	.	.	.	.	.	.	.	.	C	36	5.757716	0.96898	.	.	ENSG00000162402	ENST00000294383;ENST00000407756	T;T	0.30182	1.54;1.54	6.17	6.17	0.99709	.	0.046797	0.85682	D	0.000000	T	0.49304	0.1549	L	0.33624	1.015	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.40850	-0.9541	10	0.72032	D	0.01	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	1808	B7WPF4	.	T	1968;1808	ENSP00000294383:A1968T;ENSP00000385700:A1808T	ENSP00000294383:A1968T	A	-	1	0	USP24	55335247	1.000000	0.71417	0.972000	0.41901	0.991000	0.79684	7.461000	0.80834	2.941000	0.99782	0.655000	0.94253	GCA		0.517	USP24-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022275.2			3	30	0	0	0	1	0	3	30					T	55562659	C	T	55562659	3	4	435	1	0	0	0	0	1	0	0	0	17052	768	27	1	2040	1	USP24	1	55562659	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	25066	55562659	193687962	351	21276											
USP24	23358	broad.mit.edu	37	chr1	55604636	55604636	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cctctatagtgatcacatagCgctctgccagaagcagcaat	12	9	8	12	1	3	2	1	1	2	1	3	2	3	2	2	0	4	3	2	0	5	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:55604636C>T	ENST00000294383.6	-	25	2797	c.2798G>A	c.(2797-2799)cGc>cAc	p.R933H	USP24_ENST00000407756.1_Missense_Mutation_p.R773H	NM_015306.2	NP_056121.2	Q9UPU5	UBP24_HUMAN	ubiquitin specific peptidase 24	933					ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type peptidase activity (GO:0008234)|ubiquitinyl hydrolase activity (GO:0036459)			breast(4)|cervix(1)|endometrium(8)|kidney(13)|large_intestine(7)|lung(16)|ovary(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	60						GATCACATAGCGCTCTGCCAG	0.368																																						ENST00000294383.6																			0				breast(4)|cervix(1)|endometrium(8)|kidney(13)|large_intestine(7)|lung(16)|ovary(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	60						c.(2797-2799)cGc>cAc		ubiquitin specific peptidase 24							74	71	72					1																	55604636		1859	4104	5963	SO:0001583	missense	23358				ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr1:55604636C>T	AB028980	CCDS44154.1, CCDS44154.2	1p32.3	2008-04-11	2005-08-08		ENSG00000162402	ENSG00000162402		"Ubiquitin-specific peptidases"	12623	protein-coding gene	gene with protein product		610569	"ubiquitin specific protease 24"			12838346	Standard	NM_015306		Approved	KIAA1057	uc021onw.1	Q9UPU5	OTTHUMG00000008135	ENST00000294383.6:c.2798G>A	1.37:g.55604636C>T	ENSP00000294383:p.Arg933His					USP24_ENST00000407756.1_Missense_Mutation_p.R773H	p.R933H	NM_015306.2	NP_056121.2	Q9UPU5	UBP24_HUMAN			25	2797	-			933					Q6ZSY2|Q8N2Y4|Q9NXD1	Missense_Mutation	SNP	ENST00000294383.6	37	c.2798G>A	CCDS44154.2	.	.	.	.	.	.	.	.	.	.	C	18.93	3.728121	0.69074	.	.	ENSG00000162402	ENST00000294383;ENST00000407756	T;T	0.02323	4.34;4.35	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	T	0.08492	0.0211	N	0.19112	0.55	0.80722	D	1	D	0.71674	0.998	D	0.72075	0.976	T	0.43829	-0.9367	10	0.46703	T	0.11	.	20.0036	0.97427	0.0:1.0:0.0:0.0	.	773	B7WPF4	.	H	933;773	ENSP00000294383:R933H;ENSP00000385700:R773H	ENSP00000294383:R933H	R	-	2	0	USP24	55377224	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.383000	0.79741	2.790000	0.95986	0.655000	0.94253	CGC		0.368	USP24-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022275.2			8	6	0	0	0	1	0	8	6					T	55604636	C	T	55604636	3	4	435	1	0	0	0	0	1	0	0	0	17052	768	27	1	5240	1	USP24	1	55604636	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	41977	55604636	193645985	352	21277											
PRKAA2	5563	broad.mit.edu	37	chr1	57161695	57161695	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	accctcccatttgatgatgaGcatgtacctacgttatttaa	11	14	6	10	1	0	3	0	3	0	0	1	3	1	3	3	0	3	3	3	0	4	6			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:57161695G>A	ENST00000371244.4	+	6	717	c.651G>A	c.(649-651)gaG>gaA	p.E217E		NM_006252.3	NP_006243.2	P54646	AAPK2_HUMAN	protein kinase, AMP-activated, alpha 2 catalytic subunit	217	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				autophagy (GO:0006914)|carnitine shuttle (GO:0006853)|cell cycle arrest (GO:0007050)|cellular lipid metabolic process (GO:0044255)|cellular response to glucose starvation (GO:0042149)|cellular response to nutrient levels (GO:0031669)|cholesterol biosynthetic process (GO:0006695)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|fatty acid homeostasis (GO:0055089)|glucose homeostasis (GO:0042593)|insulin receptor signaling pathway (GO:0008286)|lipid biosynthetic process (GO:0008610)|membrane organization (GO:0061024)|negative regulation of apoptotic process (GO:0043066)|negative regulation of TOR signaling (GO:0032007)|positive regulation of autophagy (GO:0010508)|positive regulation of glycolytic process (GO:0045821)|protein phosphorylation (GO:0006468)|regulation of circadian rhythm (GO:0042752)|regulation of energy homeostasis (GO:2000505)|regulation of fatty acid biosynthetic process (GO:0042304)|regulation of transcription, DNA-templated (GO:0006355)|response to stress (GO:0006950)|rhythmic process (GO:0048511)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	[acetyl-CoA carboxylase] kinase activity (GO:0050405)|[hydroxymethylglutaryl-CoA reductase (NADPH)] kinase activity (GO:0047322)|AMP-activated protein kinase activity (GO:0004679)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|histone serine kinase activity (GO:0035174)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)			breast(6)|endometrium(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|stomach(1)	23					Acetylsalicylic acid(DB00945)	TTGATGATGAGCATGTACCTA	0.433																																						ENST00000371244.4																			0				breast(6)|endometrium(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|stomach(1)	23						c.(649-651)gaG>gaA		protein kinase, AMP-activated, alpha 2 catalytic subunit							326	318	321					1																	57161695		2203	4300	6503	SO:0001819	synonymous_variant	5563				carnitine shuttle|cell cycle arrest|cholesterol biosynthetic process|energy reserve metabolic process|fatty acid biosynthetic process|insulin receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation	cytosol|nucleoplasm	ATP binding|metal ion binding	g.chr1:57161695G>A	BC069823	CCDS605.1	1p31	2011-08-25			ENSG00000162409	ENSG00000162409			9377	protein-coding gene	gene with protein product		600497		PRKAA		7959015	Standard	NM_006252		Approved	AMPK, AMPKa2	uc001cyk.4	P54646	OTTHUMG00000008282	ENST00000371244.4:c.651G>A	1.37:g.57161695G>A							p.E217E	NM_006252.3	NP_006243.2	P54646	AAPK2_HUMAN			6	717	+			217			Protein kinase.		Q9H1E8|Q9UD43	Silent	SNP	ENST00000371244.4	37	c.651G>A	CCDS605.1																																																																																				0.433	PRKAA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022753.2	NM_006252		92	148	0	0	0	1	0	92	148					A	57161695	G	A	57161695	2	1	435	1	0	0	0	0	0	0	0	1	12494	962	34	3		3	PRKAA2	1	57161695	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	1557059	57161695	192088926	353	21278											
PRKAA2	5563	broad.mit.edu	37	chr1	57169922	57169922	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ttcttttatggatgatagtgCcatgcatattcccccaggcc	8	14	8	11	0	1	1	0	1	1	0	2	2	2	2	4	2	2	1	4	2	3	6			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:57169922C>T	ENST00000371244.4	+	7	1133	c.1067C>T	c.(1066-1068)gCc>gTc	p.A356V		NM_006252.3	NP_006243.2	P54646	AAPK2_HUMAN	protein kinase, AMP-activated, alpha 2 catalytic subunit	356	AIS. {ECO:0000250}.				autophagy (GO:0006914)|carnitine shuttle (GO:0006853)|cell cycle arrest (GO:0007050)|cellular lipid metabolic process (GO:0044255)|cellular response to glucose starvation (GO:0042149)|cellular response to nutrient levels (GO:0031669)|cholesterol biosynthetic process (GO:0006695)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|fatty acid homeostasis (GO:0055089)|glucose homeostasis (GO:0042593)|insulin receptor signaling pathway (GO:0008286)|lipid biosynthetic process (GO:0008610)|membrane organization (GO:0061024)|negative regulation of apoptotic process (GO:0043066)|negative regulation of TOR signaling (GO:0032007)|positive regulation of autophagy (GO:0010508)|positive regulation of glycolytic process (GO:0045821)|protein phosphorylation (GO:0006468)|regulation of circadian rhythm (GO:0042752)|regulation of energy homeostasis (GO:2000505)|regulation of fatty acid biosynthetic process (GO:0042304)|regulation of transcription, DNA-templated (GO:0006355)|response to stress (GO:0006950)|rhythmic process (GO:0048511)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	[acetyl-CoA carboxylase] kinase activity (GO:0050405)|[hydroxymethylglutaryl-CoA reductase (NADPH)] kinase activity (GO:0047322)|AMP-activated protein kinase activity (GO:0004679)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|histone serine kinase activity (GO:0035174)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)			breast(6)|endometrium(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|stomach(1)	23					Acetylsalicylic acid(DB00945)	GATGATAGTGCCATGCATATT	0.463																																						ENST00000371244.4																			0				breast(6)|endometrium(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|stomach(1)	23						c.(1066-1068)gCc>gTc		protein kinase, AMP-activated, alpha 2 catalytic subunit							95	87	90					1																	57169922		2203	4300	6503	SO:0001583	missense	5563				carnitine shuttle|cell cycle arrest|cholesterol biosynthetic process|energy reserve metabolic process|fatty acid biosynthetic process|insulin receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation	cytosol|nucleoplasm	ATP binding|metal ion binding	g.chr1:57169922C>T	BC069823	CCDS605.1	1p31	2011-08-25			ENSG00000162409	ENSG00000162409			9377	protein-coding gene	gene with protein product		600497		PRKAA		7959015	Standard	NM_006252		Approved	AMPK, AMPKa2	uc001cyk.4	P54646	OTTHUMG00000008282	ENST00000371244.4:c.1067C>T	1.37:g.57169922C>T	ENSP00000360290:p.Ala356Val						p.A356V	NM_006252.3	NP_006243.2	P54646	AAPK2_HUMAN			7	1133	+			356					Q9H1E8|Q9UD43	Missense_Mutation	SNP	ENST00000371244.4	37	c.1067C>T	CCDS605.1	.	.	.	.	.	.	.	.	.	.	C	9.068	0.996252	0.19043	.	.	ENSG00000162409	ENST00000371244	T	0.07688	3.17	5.82	2.88	0.33553	.	0.551776	0.18245	N	0.147107	T	0.05823	0.0152	N	0.24115	0.695	0.36278	D	0.855592	B	0.23058	0.079	B	0.25987	0.065	T	0.35076	-0.9803	10	0.16896	T	0.51	-2.378	9.4075	0.38471	0.2597:0.6737:0.0:0.0667	.	356	P54646	AAPK2_HUMAN	V	356	ENSP00000360290:A356V	ENSP00000360290:A356V	A	+	2	0	PRKAA2	56942510	0.999000	0.42202	0.864000	0.33941	0.748000	0.42578	2.738000	0.47401	0.759000	0.33084	0.591000	0.81541	GCC		0.463	PRKAA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022753.2	NM_006252		29	32	0	0	0	1	0	29	32					T	57169922	C	T	57169922	3	4	435	1	0	0	0	0	1	0	0	0	12494	739	26	3	1093	3	PRKAA2	1	57169922	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	8227	57169922	192080699	354	21279											
C8A	731	broad.mit.edu	37	chr1	57341738	57341738	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagtctcttctctccaggtcGctgcctgaaacgccaccttg	6	11	8	16	2	2	1	0	1	2	0	6	1	3	1	4	1	2	1	4	1	1	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:57341738G>A	ENST00000361249.3	+	4	416	c.320G>A	c.(319-321)cGc>cAc	p.R107H		NM_000562.2	NP_000553.1	P07357	CO8A_HUMAN	complement component 8, alpha polypeptide	107	LDL-receptor class A. {ECO:0000255|PROSITE-ProRule:PRU00124}.				complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|immune response (GO:0006955)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|membrane attack complex (GO:0005579)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	43						TCTCCAGGTCGCTGCCTGAAA	0.537																																						ENST00000361249.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	43						c.(319-321)cGc>cAc		complement component 8, alpha polypeptide							85	76	79					1																	57341738		2203	4300	6503	SO:0001583	missense	731				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular space|membrane attack complex		g.chr1:57341738G>A	M16974	CCDS606.1	1p32.2	2014-09-17			ENSG00000157131	ENSG00000157131		"Complement system"	1352	protein-coding gene	gene with protein product		120950					Standard	NM_000562		Approved		uc001cyo.2	P07357	OTTHUMG00000008306	ENST00000361249.3:c.320G>A	1.37:g.57341738G>A	ENSP00000354458:p.Arg107His						p.R107H	NM_000562.2	NP_000553.1	P07357	CO8A_HUMAN			4	416	+			107			LDL-receptor class A.		A2RUI4|A2RUI5|Q13668|Q9H130	Missense_Mutation	SNP	ENST00000361249.3	37	c.320G>A	CCDS606.1	.	.	.	.	.	.	.	.	.	.	G	35	5.528023	0.96446	.	.	ENSG00000157131	ENST00000361249	D	0.87729	-2.29	5.84	5.84	0.93424	.	0.000000	0.85682	D	0.000000	D	0.92691	0.7677	L	0.58925	1.835	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	D	0.92675	0.6153	10	0.87932	D	0	-24.0548	20.1346	0.98019	0.0:0.0:1.0:0.0	.	107	P07357	CO8A_HUMAN	H	107	ENSP00000354458:R107H	ENSP00000354458:R107H	R	+	2	0	C8A	57114326	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	8.891000	0.92485	2.765000	0.95021	0.655000	0.94253	CGC		0.537	C8A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022890.1	NM_000562		9	10	0	0	0	1	0	9	10					A	57341738	G	A	57341738	3	1	435	1	0	0	0	0	1	0	0	0	2416	1087	38	1	334	1	C8A	1	57341738	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	171816	57341738	191908883	355	21280											
C8A	731	broad.mit.edu	37	chr1	57347138	57347138	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtacaatatcctgacccaggAagatgctcagagtgtgtacg	12	9	11	9	1	1	3	1	1	0	2	2	4	2	4	2	1	3	3	2	1	5	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:57347138A>T	ENST00000361249.3	+	5	581	c.485A>T	c.(484-486)gAa>gTa	p.E162V		NM_000562.2	NP_000553.1	P07357	CO8A_HUMAN	complement component 8, alpha polypeptide	162	MACPF. {ECO:0000255|PROSITE- ProRule:PRU00745}.				complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|immune response (GO:0006955)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|membrane attack complex (GO:0005579)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	43						CTGACCCAGGAAGATGCTCAG	0.458																																						ENST00000361249.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	43						c.(484-486)gAa>gTa		complement component 8, alpha polypeptide							150	152	151					1																	57347138		2203	4300	6503	SO:0001583	missense	731				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular space|membrane attack complex		g.chr1:57347138A>T	M16974	CCDS606.1	1p32.2	2014-09-17			ENSG00000157131	ENSG00000157131		"Complement system"	1352	protein-coding gene	gene with protein product		120950					Standard	NM_000562		Approved		uc001cyo.2	P07357	OTTHUMG00000008306	ENST00000361249.3:c.485A>T	1.37:g.57347138A>T	ENSP00000354458:p.Glu162Val						p.E162V	NM_000562.2	NP_000553.1	P07357	CO8A_HUMAN			5	581	+			162			MACPF.		A2RUI4|A2RUI5|Q13668|Q9H130	Missense_Mutation	SNP	ENST00000361249.3	37	c.485A>T	CCDS606.1	.	.	.	.	.	.	.	.	.	.	A	17.52	3.409164	0.62399	.	.	ENSG00000157131	ENST00000361249	T	0.78003	-1.14	5.56	3.22	0.36961	Membrane attack complex component/perforin (MACPF) domain (1);	0.672169	0.16427	N	0.214882	T	0.81955	0.4932	M	0.86953	2.85	0.46521	D	0.99908	P	0.48834	0.916	P	0.47376	0.545	T	0.80614	-0.1304	10	0.87932	D	0	-4.4817	8.1436	0.31097	0.7947:0.1356:0.0697:0.0	.	162	P07357	CO8A_HUMAN	V	162	ENSP00000354458:E162V	ENSP00000354458:E162V	E	+	2	0	C8A	57119726	1.000000	0.71417	0.007000	0.13788	0.710000	0.40934	5.128000	0.64733	0.386000	0.24997	0.533000	0.62120	GAA		0.458	C8A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022890.1	NM_000562		30	48	0	0	0	1	0	30	48					T	57347138	A	T	57347138	3	4	435	1	0	0	0	0	1	0	0	0	2416	246	9	5	503	5	C8A	1	57347138	Missense_Mutation	SNP	A	TCGA-XK-AAIW-01A-11D-A41K-08	5400	57347138	191903483	356	21281											
C8A	731	broad.mit.edu	37	chr1	57372341	57372341	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctctgtctccctgttgcaggTattaccagcagagatatcac	9	12	8	12	0	3	1	1	0	2	1	4	2	3	1	2	1	3	4	2	1	3	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:57372341T>C	ENST00000361249.3	+	8	1194	c.1098T>C	c.(1096-1098)ggT>ggC	p.G366G		NM_000562.2	NP_000553.1	P07357	CO8A_HUMAN	complement component 8, alpha polypeptide	366	MACPF. {ECO:0000255|PROSITE- ProRule:PRU00745}.				complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|immune response (GO:0006955)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|membrane attack complex (GO:0005579)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	43						CTGTTGCAGGTATTACCAGCA	0.398																																						ENST00000361249.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	43						c.e8-1		complement component 8, alpha polypeptide							142	140	141					1																	57372341		2203	4300	6503	SO:0001630	splice_region_variant	731				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular space|membrane attack complex		g.chr1:57372341T>C	M16974	CCDS606.1	1p32.2	2014-09-17			ENSG00000157131	ENSG00000157131		"Complement system"	1352	protein-coding gene	gene with protein product		120950					Standard	NM_000562		Approved		uc001cyo.2	P07357	OTTHUMG00000008306	ENST00000361249.3:c.1097-1T>C	1.37:g.57372341T>C							p.G366_splice	NM_000562.2	NP_000553.1	P07357	CO8A_HUMAN			8	1194	+			366			MACPF.		A2RUI4|A2RUI5|Q13668|Q9H130	Splice_Site	SNP	ENST00000361249.3	37	c.1096_splice	CCDS606.1																																																																																				0.398	C8A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022890.1	NM_000562	Silent	51	78	0	0	0	1	0	51	78					C	57372341	T	C	57372341	5	2	435	1	0	0	0	0	0	0	1	0	2416	1652	57	4	1128	4	C8A	1	57372341	Splice_Site	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	25203	57372341	191878280	357	21282											
JUN	3725	broad.mit.edu	37	chr1	59247825	59247825	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgactttctgtttaagctgTgccacctgttccctgagcat	7	15	8	11	0	1	2	0	2	1	0	2	2	2	2	3	0	3	4	3	0	1	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:59247825T>C	ENST00000371222.2	-	1	1960	c.918A>G	c.(916-918)gcA>gcG	p.A306A		NM_002228.3	NP_002219.1	P05412	JUN_HUMAN	jun proto-oncogene	306	Leucine-zipper. {ECO:0000255|PROSITE- ProRule:PRU00978}.|bZIP. {ECO:0000255|PROSITE- ProRule:PRU00978}.				aging (GO:0007568)|angiogenesis (GO:0001525)|axon regeneration (GO:0031103)|cellular response to calcium ion (GO:0071277)|cellular response to potassium ion starvation (GO:0051365)|circadian rhythm (GO:0007623)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|leading edge cell differentiation (GO:0035026)|learning (GO:0007612)|liver development (GO:0001889)|membrane depolarization (GO:0051899)|microglial cell activation (GO:0001774)|monocyte differentiation (GO:0030224)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation by host of viral transcription (GO:0043922)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA binding (GO:0043392)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of protein autophosphorylation (GO:0031953)|negative regulation of transcription from RNA polymerase II promoter in response to endoplasmic reticulum stress (GO:1990441)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract morphogenesis (GO:0003151)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of DNA replication (GO:0045740)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of monocyte differentiation (GO:0045657)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell cycle (GO:0051726)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|release of cytochrome c from mitochondria (GO:0001836)|response to cAMP (GO:0051591)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to hydrogen peroxide (GO:0042542)|response to lipopolysaccharide (GO:0032496)|response to mechanical stimulus (GO:0009612)|response to radiation (GO:0009314)|SMAD protein import into nucleus (GO:0007184)|SMAD protein signal transduction (GO:0060395)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transforming growth factor beta receptor signaling pathway (GO:0007179)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|nuclear chromosome (GO:0000228)|nuclear euchromatin (GO:0005719)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	cAMP response element binding (GO:0035497)|DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|poly(A) RNA binding (GO:0044822)|R-SMAD binding (GO:0070412)|Rho GTPase activator activity (GO:0005100)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|kidney(2)|lung(5)|skin(1)	10	all_cancers(7;8.55e-07)				Arsenic trioxide(DB01169)|Irbesartan(DB01029)|Pseudoephedrine(DB00852)|Vinblastine(DB00570)	GTTTAAGCTGTGCCACCTGTT	0.527			A		sarcoma						OREG0013518	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000371222.2				Dom	yes		1	1p32-p31	3725	A	jun oncogene			M			sarcoma		0				breast(2)|kidney(2)|lung(5)|skin(1)	10						c.(916-918)gcA>gcG		jun proto-oncogene	Arsenic trioxide(DB01169)|Irbesartan(DB01029)|Vinblastine(DB00570)						137	134	135					1																	59247825		2203	4300	6503	SO:0001819	synonymous_variant	3725				innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation by host of viral transcription|negative regulation of DNA binding|negative regulation of transcription, DNA-dependent|positive regulation by host of viral transcription|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|SMAD protein import into nucleus|SMAD protein signal transduction|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transforming growth factor beta receptor signaling pathway		R-SMAD binding|Rho GTPase activator activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription coactivator activity|transcription factor binding|transcription regulatory region DNA binding	g.chr1:59247825T>C	AY217548	CCDS610.1	1p32-p31	2013-01-10	2010-08-27		ENSG00000177606	ENSG00000177606		"basic leucine zipper proteins"	6204	protein-coding gene	gene with protein product		165160	"v-jun avian sarcoma virus 17 oncogene homolog", "v-jun sarcoma virus 17 oncogene homolog (avian)", "jun oncogene"			3194415	Standard	NM_002228		Approved	c-Jun, AP-1	uc001cze.3	P05412	OTTHUMG00000008376	ENST00000371222.2:c.918A>G	1.37:g.59247825T>C			OREG0013518	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1037		p.A306A	NM_002228.3	NP_002219.1	P05412	JUN_HUMAN			1	1960	-	all_cancers(7;8.55e-07)		306			Leucine-zipper.		Q6FHM7|Q96G93	Silent	SNP	ENST00000371222.2	37	c.918A>G	CCDS610.1																																																																																				0.527	JUN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023042.1	NM_002228		13	84	0	0	0	1	0	13	84					C	59247825	T	C	59247825	2	2	435	1	0	0	0	0	0	0	0	1	7969	1683	59	4		4	JUN	1	59247825	Silent	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	1875484	59247825	190002796	358	21283											
FGGY	55277	broad.mit.edu	37	chr1	60073567	60073567	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctgaatgaaggtggtcagagCgttactggaaaattggtaag	13	10	14	4	1	1	3	1	2	0	1	1	4	1	4	0	4	2	2	0	4	6	3	rs565354392	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:60073567C>T	ENST00000303721.7	+	9	1170	c.996C>T	c.(994-996)agC>agT	p.S332S	FGGY_ENST00000371212.1_Silent_p.S244S|FGGY_ENST00000474476.1_3'UTR|FGGY_ENST00000371210.1_Silent_p.S33S|FGGY_ENST00000371218.4_Silent_p.S332S	NM_018291.3	NP_060761.3	Q96C11	FGGY_HUMAN	FGGY carbohydrate kinase domain containing	332					carbohydrate metabolic process (GO:0005975)|cell death (GO:0008219)|neuron cellular homeostasis (GO:0070050)		kinase activity (GO:0016301)|phosphotransferase activity, alcohol group as acceptor (GO:0016773)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	22	all_cancers(7;7.36e-05)					GTGGTCAGAGCGTTACTGGAA	0.438													C|||	3	0.000599042	0	0	5008	,	,		19165	0		0	False		,,,				2504	0.0031					ENST00000371218.4																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	22						c.(994-996)agC>agT		FGGY carbohydrate kinase domain containing							134	132	133					1																	60073567		2203	4300	6503	SO:0001819	synonymous_variant	55277				carbohydrate metabolic process|cell death|neuron homeostasis		kinase activity|phosphotransferase activity, alcohol group as acceptor	g.chr1:60073567C>T		CCDS611.2, CCDS44155.1, CCDS58003.1, CCDS60155.1	1p32.1	2008-10-23			ENSG00000172456	ENSG00000172456			25610	protein-coding gene	gene with protein product		611370				17671248	Standard	NM_018291		Approved	FLJ10986	uc009wac.3	Q96C11	OTTHUMG00000008424	ENST00000303721.7:c.996C>T	1.37:g.60073567C>T						FGGY_ENST00000371212.1_Silent_p.S244S|FGGY_ENST00000474476.1_3'UTR|FGGY_ENST00000303721.7_Silent_p.S332S|FGGY_ENST00000371210.1_Silent_p.S33S	p.S332S	NM_001113411.1	NP_001106882.1	Q96C11	FGGY_HUMAN			9	1180	+	all_cancers(7;7.36e-05)		332					B1AK92|B1AK93|B1AK94|B2RDR8|D3DQ56|Q9HA63|Q9NV20	Silent	SNP	ENST00000303721.7	37	c.996C>T	CCDS611.2																																																																																				0.438	FGGY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023210.2	NM_001113411		17	44	0	0	0	1	0	17	44					T	60073567	C	T	60073567	2	4	435	1	0	0	0	0	0	0	0	1	5871	767	27	1		1	FGGY	1	60073567	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	825742	60073567	189177054	359	21284											
C1orf87	127795	broad.mit.edu	37	chr1	60463394	60463394	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ctggattcacgaagggctggGagactggcctgatctttaaa	10	10	13	8	1	2	2	1	1	1	1	2	5	2	3	1	4	0	1	1	4	3	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:60463394G>A	ENST00000371201.3	-	11	1474	c.1367C>T	c.(1366-1368)tCc>tTc	p.S456F	C1orf87_ENST00000486478.1_5'UTR|C1orf87_ENST00000450089.2_Missense_Mutation_p.S227F|C1orf87_ENST00000395552.1_Missense_Mutation_p.S90F	NM_152377.2	NP_689590.1	Q8N0U7	CA087_HUMAN	chromosome 1 open reading frame 87	456							calcium ion binding (GO:0005509)			breast(2)|endometrium(2)|large_intestine(6)|lung(19)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33						GAAGGGCTGGGAGACTGGCCT	0.498																																					NSCLC(75;811 1386 4923 13371 51772)	ENST00000371201.3																			0				breast(2)|endometrium(2)|large_intestine(6)|lung(19)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33						c.(1366-1368)tCc>tTc		chromosome 1 open reading frame 87							113	110	111					1																	60463394		2203	4300	6503	SO:0001583	missense	127795						calcium ion binding	g.chr1:60463394G>A	AK124828	CCDS614.1	1p32.1	2014-04-03			ENSG00000162598	ENSG00000162598			28547	protein-coding gene	gene with protein product	"carcinoma-related EF-hand protein"					12477932	Standard	NM_152377		Approved	MGC34837, CREF	uc001czs.2	Q8N0U7	OTTHUMG00000008992	ENST00000371201.3:c.1367C>T	1.37:g.60463394G>A	ENSP00000360244:p.Ser456Phe					C1orf87_ENST00000395552.1_Missense_Mutation_p.S90F|C1orf87_ENST00000486478.1_5'UTR|C1orf87_ENST00000450089.2_Missense_Mutation_p.S227F	p.S456F	NM_152377.2	NP_689590.1	Q8N0U7	CA087_HUMAN			11	1474	-			456					Q6ZU07|Q8IVS0	Missense_Mutation	SNP	ENST00000371201.3	37	c.1367C>T	CCDS614.1	.	.	.	.	.	.	.	.	.	.	G	17.11	3.305416	0.60305	.	.	ENSG00000162598	ENST00000371201;ENST00000395552;ENST00000450089	T;T	0.35236	2.08;1.32	5.49	5.49	0.81192	.	0.000000	0.47093	D	0.000255	T	0.58509	0.2127	M	0.61703	1.905	0.44643	D	0.997624	D	0.89917	1.0	D	0.91635	0.999	T	0.56396	-0.7986	10	0.54805	T	0.06	-3.6734	16.9204	0.86162	0.0:0.0:1.0:0.0	.	456	Q8N0U7	CA087_HUMAN	F	456;90;227	ENSP00000360244:S456F;ENSP00000378921:S90F	ENSP00000360244:S456F	S	-	2	0	C1orf87	60235982	0.988000	0.35896	1.000000	0.80357	0.353000	0.29299	3.409000	0.52657	2.857000	0.98124	0.650000	0.86243	TCC		0.498	C1orf87-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024943.1	NM_152377		29	48	0	0	0	1	0	29	48					A	60463394	G	A	60463394	3	1	435	1	0	0	0	0	1	0	0	0	2064	1174	41	3	281	3	C1orf87	1	60463394	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	389827	60463394	188787227	360	21285											
INADL	10207	broad.mit.edu	37	chr1	62455951	62455951	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tggtaataaagaccgatcacGcatgagcatatttgtggtgg	12	11	12	6	2	1	2	1	1	0	1	1	3	1	2	1	3	1	3	1	3	4	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:62455951G>A	ENST00000371158.2	+	28	3896	c.3782G>A	c.(3781-3783)cGc>cAc	p.R1261H	INADL_ENST00000545929.1_5'UTR|INADL_ENST00000316485.6_Missense_Mutation_p.R1261H|INADL_ENST00000543708.1_Missense_Mutation_p.R45H	NM_176877.2	NP_795352	Q8NI35	INADL_HUMAN	InaD-like (Drosophila)	1261	PDZ 7. {ECO:0000255|PROSITE- ProRule:PRU00143}.				cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|intracellular signal transduction (GO:0035556)|tight junction assembly (GO:0070830)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|tight junction (GO:0005923)				breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)	103						GACCGATCACGCATGAGCATA	0.453																																						ENST00000371158.2																			0				breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)	103						c.(3781-3783)cGc>cAc		InaD-like (Drosophila)							106	98	101					1																	62455951		2203	4300	6503	SO:0001583	missense	10207				intracellular signal transduction|tight junction assembly	apical plasma membrane|perinuclear region of cytoplasm|tight junction	protein binding	g.chr1:62455951G>A	AB044807	CCDS617.2	1p31	2008-02-05			ENSG00000132849	ENSG00000132849			28881	protein-coding gene	gene with protein product		603199				9280290, 11374908	Standard	NM_176877		Approved	Cipp, PATJ	uc001dab.3	Q8NI35	OTTHUMG00000008560	ENST00000371158.2:c.3782G>A	1.37:g.62455951G>A	ENSP00000360200:p.Arg1261His					INADL_ENST00000543708.1_Missense_Mutation_p.R45H|INADL_ENST00000545929.1_5'UTR|INADL_ENST00000316485.6_Missense_Mutation_p.R1261H	p.R1261H	NM_176877.2	NP_795352.2	Q8NI35	INADL_HUMAN			28	3896	+			1261			PDZ 7.		O15249|O43742|O60833|Q5VUA5|Q5VUA6|Q5VUA7|Q5VUA8|Q5VUA9|Q5VUB0|Q8WU78|Q9H3N9	Missense_Mutation	SNP	ENST00000371158.2	37	c.3782G>A	CCDS617.2	.	.	.	.	.	.	.	.	.	.	G	18.75	3.691596	0.68271	.	.	ENSG00000132849	ENST00000371158;ENST00000316485;ENST00000371156;ENST00000395513;ENST00000307297;ENST00000543708	T;T;T;T	0.39229	1.09;1.09;1.09;1.09	5.84	3.83	0.44106	PDZ/DHR/GLGF (4);	0.073201	0.56097	D	0.000039	T	0.32102	0.0818	L	0.28274	0.84	0.80722	D	1	B;B;B;B;B	0.19583	0.001;0.022;0.022;0.005;0.037	B;B;B;B;B	0.19946	0.005;0.027;0.016;0.02;0.018	T	0.13072	-1.0523	10	0.48119	T	0.1	.	14.5702	0.68205	0.0:0.0:0.7338:0.2661	.	45;720;1261;1261;1261	B4DE90;Q8NI35-5;F8W8T2;Q8NI35;Q8NI35-4	.;.;.;INADL_HUMAN;.	H	1261;1261;1261;1261;45;45	ENSP00000360200:R1261H;ENSP00000326199:R1261H;ENSP00000307496:R45H;ENSP00000445790:R45H	ENSP00000307496:R45H	R	+	2	0	INADL	62228539	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	4.785000	0.62418	1.428000	0.47296	0.655000	0.94253	CGC		0.453	INADL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023639.2	NM_170605		34	58	0	0	0	1	0	34	58					A	62455951	G	A	62455951	3	1	435	1	0	0	0	0	1	0	0	0	7731	1087	38	1	3888	1	INADL	1	62455951	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	1992557	62455951	186794670	361	21286											
INADL	10207	broad.mit.edu	37	chr1	62550224	62550224	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtcagtggaccccgcaacGtgtcccattgtccctggaca	7	9	10	15	2	1	0	1	0	0	0	3	2	3	2	4	2	1	1	4	2	1	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:62550224G>A	ENST00000371158.2	+	33	4395	c.4281G>A	c.(4279-4281)acG>acA	p.T1427T	INADL_ENST00000545929.1_Silent_p.T100T|INADL_ENST00000316485.6_Silent_p.T1427T|INADL_ENST00000543708.1_Silent_p.T211T	NM_176877.2	NP_795352	Q8NI35	INADL_HUMAN	InaD-like (Drosophila)	1427					cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|intracellular signal transduction (GO:0035556)|tight junction assembly (GO:0070830)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|tight junction (GO:0005923)				breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)	103						ACCCCGCAACGTGTCCCATTG	0.512																																						ENST00000371158.2																			0				breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)	103						c.(4279-4281)acG>acA		InaD-like (Drosophila)							94	87	89					1																	62550224		2203	4300	6503	SO:0001819	synonymous_variant	10207				intracellular signal transduction|tight junction assembly	apical plasma membrane|perinuclear region of cytoplasm|tight junction	protein binding	g.chr1:62550224G>A	AB044807	CCDS617.2	1p31	2008-02-05			ENSG00000132849	ENSG00000132849			28881	protein-coding gene	gene with protein product		603199				9280290, 11374908	Standard	NM_176877		Approved	Cipp, PATJ	uc001dab.3	Q8NI35	OTTHUMG00000008560	ENST00000371158.2:c.4281G>A	1.37:g.62550224G>A						INADL_ENST00000543708.1_Silent_p.T211T|INADL_ENST00000545929.1_Silent_p.T100T|INADL_ENST00000316485.6_Silent_p.T1427T	p.T1427T	NM_176877.2	NP_795352.2	Q8NI35	INADL_HUMAN			33	4395	+			1427					O15249|O43742|O60833|Q5VUA5|Q5VUA6|Q5VUA7|Q5VUA8|Q5VUA9|Q5VUB0|Q8WU78|Q9H3N9	Silent	SNP	ENST00000371158.2	37	c.4281G>A	CCDS617.2																																																																																				0.512	INADL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023639.2	NM_170605		33	38	0	0	0	1	0	33	38					A	62550224	G	A	62550224	2	1	435	1	0	0	0	0	0	0	0	1	7731	1132	40	1		1	INADL	1	62550224	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	94273	62550224	186700397	362	21287											
L1TD1	54596	broad.mit.edu	37	chr1	62672630	62672630	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	caaataatcaatttagcattAcaaaaaacagggatggtagg	19	9	8	5	0	1	0	1	0	0	0	1	1	1	1	0	3	3	2	0	3	9	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:62672630A>G	ENST00000498273.1	+	3	625	c.330A>G	c.(328-330)ttA>ttG	p.L110L		NM_001164835.1|NM_019079.4	NP_001158307.1|NP_061952.3	Q5T7N2	LITD1_HUMAN	LINE-1 type transposase domain containing 1	110										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	35						atttagcattacaaaaaacag	0.333																																						ENST00000498273.1																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	35						c.(328-330)ttA>ttG		LINE-1 type transposase domain containing 1							65	77	73					1																	62672630		2171	4288	6459	SO:0001819	synonymous_variant	54596							g.chr1:62672630A>G	BC060808	CCDS619.1	1p31.3	2009-01-12			ENSG00000240563	ENSG00000240563			25595	protein-coding gene	gene with protein product						12477932	Standard	NM_001164835		Approved	FLJ10884, ECAT11	uc001dae.4	Q5T7N2	OTTHUMG00000008914	ENST00000498273.1:c.330A>G	1.37:g.62672630A>G							p.L110L	NM_001164835.1|NM_019079.4	NP_001158307.1|NP_061952.3	Q5T7N2	LITD1_HUMAN			3	625	+			110					Q8NDA1|Q9NUV8|Q9NV78	Silent	SNP	ENST00000498273.1	37	c.330A>G	CCDS619.1																																																																																				0.333	L1TD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024688.1	NM_019079		20	46	0	0	0	1	0	20	46					G	62672630	A	G	62672630	2	3	435	1	0	0	0	0	0	0	0	1	8589	388	14	4		4	L1TD1	1	62672630	Silent	SNP	A	TCGA-XK-AAIW-01A-11D-A41K-08	122406	62672630	186577991	363	21288											
DOCK7	85440	broad.mit.edu	37	chr1	63099177	63099177	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ataacattctaccttggtggCatctgcttctttgaaaatca	11	15	6	9	0	4	1	1	1	3	0	4	1	4	1	1	2	3	2	1	2	4	6			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:63099177C>A	ENST00000340370.5	-	10	1125	c.1108G>T	c.(1108-1110)Gcc>Tcc	p.A370S	DOCK7_ENST00000404627.2_Missense_Mutation_p.A370S|DOCK7_ENST00000251157.5_Missense_Mutation_p.A370S	NM_033407.2	NP_212132.2	Q96N67	DOCK7_HUMAN	dedicator of cytokinesis 7	370					activation of Rac GTPase activity (GO:0032863)|axonogenesis (GO:0007409)|establishment of neuroblast polarity (GO:0045200)|hematopoietic progenitor cell differentiation (GO:0002244)|interkinetic nuclear migration (GO:0022027)|microtubule cytoskeleton organization (GO:0000226)|neuron projection development (GO:0031175)|pigmentation (GO:0043473)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of neurogenesis (GO:0050767)|small GTPase mediated signal transduction (GO:0007264)	axon (GO:0030424)|basal part of cell (GO:0045178)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|neuron projection (GO:0043005)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rac GTPase binding (GO:0048365)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(19)|lung(42)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	92						ACCTTGGTGGCATCTGCTTCT	0.363																																						ENST00000251157.5																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(19)|lung(42)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	92						c.(1108-1110)Gcc>Tcc		dedicator of cytokinesis 7							263	258	260					1																	63099177		2203	4300	6503	SO:0001583	missense	85440				activation of Rac GTPase activity|axonogenesis|establishment of neuroblast polarity|microtubule cytoskeleton organization|positive regulation of peptidyl-serine phosphorylation	axon|basal part of cell|growth cone	GTP binding|guanyl-nucleotide exchange factor activity|Rac GTPase binding	g.chr1:63099177C>A		CCDS30734.1, CCDS60156.1, CCDS60157.1	1p32.1	2008-02-05			ENSG00000116641	ENSG00000116641			19190	protein-coding gene	gene with protein product		615730				12432077	Standard	NM_033407		Approved	KIAA1771, ZIR2	uc001daq.4	Q96N67	OTTHUMG00000013131	ENST00000340370.5:c.1108G>T	1.37:g.63099177C>A	ENSP00000340742:p.Ala370Ser					DOCK7_ENST00000340370.5_Missense_Mutation_p.A370S|DOCK7_ENST00000404627.2_Missense_Mutation_p.A370S	p.A370S	NM_001271999.1	NP_001258928.1	Q96N67	DOCK7_HUMAN			10	1141	-			370					Q00M63|Q2PPY7|Q45RE8|Q45RE9|Q5T1B9|Q5T1C0|Q6ZV32|Q8TB82|Q96NG6|Q96NI0|Q9C092	Missense_Mutation	SNP	ENST00000340370.5	37	c.1108G>T	CCDS30734.1	.	.	.	.	.	.	.	.	.	.	C	11.61	1.690675	0.29962	.	.	ENSG00000116641	ENST00000371140;ENST00000251157;ENST00000340370;ENST00000404627	T;T;T	0.45276	0.9;0.9;0.9	3.95	3.95	0.45737	.	0.000000	0.85682	D	0.000000	T	0.07369	0.0186	N	0.02202	-0.64	0.44762	D	0.997761	B;B;B;B;B	0.09022	0.001;0.001;0.002;0.001;0.0	B;B;B;B;B	0.13407	0.007;0.007;0.007;0.009;0.002	T	0.12041	-1.0563	10	0.26408	T	0.33	.	7.9133	0.29803	0.0:0.8162:0.0:0.1838	.	370;370;370;370;370	Q96NI0;Q96N67-2;Q96N67-5;Q96N67-4;Q96N67-3	.;.;.;.;.	S	370	ENSP00000251157:A370S;ENSP00000340742:A370S;ENSP00000384446:A370S	ENSP00000251157:A370S	A	-	1	0	DOCK7	62871765	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	3.049000	0.49869	2.206000	0.71126	0.555000	0.69702	GCC		0.363	DOCK7-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036806.1	NM_033407		6	128	1	0	2.7689e-08	1	2.91998e-08	6	128					A	63099177	C	A	63099177	3	1	435	1	0	0	0	0	1	0	0	0	4692	710	25	5	5381	5	DOCK7	1	63099177	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	426547	63099177	186151444	364	21289											
ITGB3BP	23421	broad.mit.edu	37	chr1	63912520	63912520	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aattcatagctgtcaagatgAcgtgatgctatatgaaagaa	16	11	9	5	1	2	5	2	3	0	2	2	5	2	5	0	0	2	2	0	0	7	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:63912520A>G	ENST00000271002.10	-	8	573	c.492T>C	c.(490-492)cgT>cgC	p.R164R	ITGB3BP_ENST00000371092.3_Silent_p.R203R|ITGB3BP_ENST00000461681.1_Intron	NM_014288.4	NP_055103.3	Q13352	CENPR_HUMAN	integrin beta 3 binding protein (beta3-endonexin)	164					apoptotic signaling pathway (GO:0097190)|cell adhesion (GO:0007155)|CENP-A containing nucleosome assembly (GO:0034080)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nucleosome assembly (GO:0006334)|positive regulation of apoptotic process (GO:0043065)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein C-terminus binding (GO:0008022)|signal transducer activity (GO:0004871)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|upper_aerodigestive_tract(1)	9						TGTCAAGATGACGTGATGCTA	0.313																																						ENST00000371092.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|upper_aerodigestive_tract(1)	9						c.(607-609)cgT>cgC		integrin beta 3 binding protein (beta3-endonexin)							89	85	86					1																	63912520		2203	4297	6500	SO:0001819	synonymous_variant	23421				apoptosis|cell adhesion|CenH3-containing nucleosome assembly at centromere|induction of apoptosis by extracellular signals|mitotic prometaphase|nerve growth factor receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome, centromeric region|cytosol|membrane fraction|nucleoplasm	protein C-terminus binding|signal transducer activity	g.chr1:63912520A>G	U37139	CCDS30736.1, CCDS55603.1	1p31.3	2013-11-05			ENSG00000142856	ENSG00000142856			6157	protein-coding gene	gene with protein product	"centromere protein R"	605494				7593198, 10490654	Standard	NM_014288		Approved	NRIF3, HSU37139, TAP20, CENPR	uc001dbb.2	Q13352	OTTHUMG00000013364	ENST00000271002.10:c.492T>C	1.37:g.63912520A>G						ITGB3BP_ENST00000461681.1_Intron|ITGB3BP_ENST00000271002.10_Silent_p.R164R	p.R203R	NM_001206739.1	NP_001193668.1	Q13352	CENPR_HUMAN			9	669	-			164					B2R7D8|Q13353|Q5RJ42|Q5RJ44|Q5RJ45|Q7KYX2|Q96CD5|Q9UKB6	Silent	SNP	ENST00000271002.10	37	c.609T>C	CCDS30736.1																																																																																				0.313	ITGB3BP-017	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000037242.2	NM_014288		10	20	0	0	0	1	0	10	20					G	63912520	A	G	63912520	2	3	435	1	0	0	0	0	0	0	0	1	7896	262	10	4		4	ITGB3BP	1	63912520	Silent	SNP	A	TCGA-XK-AAIW-01A-11D-A41K-08	813343	63912520	185338101	365	21290											
EFCAB7	84455	broad.mit.edu	37	chr1	63999837	63999837	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tttccttcacagttaccatgGgggctaatggtaaccgaaac	11	11	9	10	1	1	0	1	0	0	0	2	1	2	0	3	3	3	3	3	3	4	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:63999837G>A	ENST00000371088.4	+	6	1000	c.754G>A	c.(754-756)Ggg>Agg	p.G252R	RNU7-123P_ENST00000515911.1_RNA	NM_032437.2	NP_115813.2	A8K855	EFCB7_HUMAN	EF-hand calcium binding domain 7	252							calcium ion binding (GO:0005509)			breast(1)|endometrium(4)|large_intestine(4)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	19						AGTTACCATGGGGGCTAATGG	0.353																																						ENST00000371088.4																			0				breast(1)|endometrium(4)|large_intestine(4)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	19						c.(754-756)Ggg>Agg		EF-hand calcium binding domain 7							90	88	89					1																	63999837		2203	4300	6503	SO:0001583	missense	84455						calcium ion binding	g.chr1:63999837G>A	BC015814	CCDS30737.1	1p31.3	2013-01-10			ENSG00000203965	ENSG00000203965		"EF-hand domain containing"	29379	protein-coding gene	gene with protein product						11347906	Standard	NM_032437		Approved	KIAA1799, RP4-534K7.1	uc001dbf.3	A8K855	OTTHUMG00000008983	ENST00000371088.4:c.754G>A	1.37:g.63999837G>A	ENSP00000360129:p.Gly252Arg						p.G252R	NM_032437.2	NP_115813.2	A8K855	EFCB7_HUMAN			6	1000	+			252					Q658P0|Q96B95|Q96JM6	Missense_Mutation	SNP	ENST00000371088.4	37	c.754G>A	CCDS30737.1	.	.	.	.	.	.	.	.	.	.	G	2.887	-0.230417	0.05983	.	.	ENSG00000203965	ENST00000371088	T	0.60299	0.2	5.65	-1.31	0.09230	.	0.890633	0.10034	N	0.724320	T	0.21550	0.0519	L	0.33485	1.01	0.52099	D	0.999941	B	0.29805	0.257	B	0.27500	0.08	T	0.31943	-0.9925	10	0.56958	D	0.05	-1.4926	2.6118	0.04893	0.3841:0.1107:0.3925:0.1126	.	252	A8K855	EFCB7_HUMAN	R	252	ENSP00000360129:G252R	ENSP00000360129:G252R	G	+	1	0	EFCAB7	63772425	0.570000	0.26651	0.186000	0.23195	0.122000	0.20287	0.275000	0.18698	0.021000	0.15133	-0.140000	0.14226	GGG		0.353	EFCAB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024910.1	NM_032437		21	81	0	0	0	1	0	21	81					A	63999837	G	A	63999837	3	1	435	1	0	0	0	0	1	0	0	0	4940	1232	43	3	772	3	EFCAB7	1	63999837	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	87317	63999837	185250784	366	21291											
CACHD1	57685	broad.mit.edu	37	chr1	65095157	65095157	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtaagggcagctacgaacacCgcagtaggtatgttgacttg	11	9	13	8	2	0	1	0	1	0	0	0	2	0	1	1	2	3	7	1	2	5	6			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:65095157C>T	ENST00000371073.2	+	5	637	c.637C>T	c.(637-639)Cgc>Tgc	p.R213C	CACHD1_ENST00000290039.5_Missense_Mutation_p.R162C|CACHD1_ENST00000495994.1_3'UTR			Q5VU97	CAHD1_HUMAN	cache domain containing 1	213					calcium ion transport (GO:0006816)	integral component of membrane (GO:0016021)				breast(4)|endometrium(3)|kidney(3)|large_intestine(20)|lung(14)|ovary(2)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						CTACGAACACCGCAGTAGGTA	0.388																																						ENST00000371073.2																			0				breast(4)|endometrium(3)|kidney(3)|large_intestine(20)|lung(14)|ovary(2)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						c.(637-639)Cgc>Tgc		cache domain containing 1							132	120	124					1																	65095157		1872	4113	5985	SO:0001583	missense	57685				calcium ion transport	integral to membrane		g.chr1:65095157C>T	AB046793	CCDS628.2	1p31.3	2008-02-05	2005-10-11	2005-10-11	ENSG00000158966	ENSG00000158966			29314	protein-coding gene	gene with protein product			"von Willebrand factor type A and cache domain containing 1"	VWCD1		10997877	Standard	NM_020925		Approved	KIAA1573	uc001dbo.1	Q5VU97	OTTHUMG00000009030	ENST00000371073.2:c.637C>T	1.37:g.65095157C>T	ENSP00000360113:p.Arg213Cys					CACHD1_ENST00000495994.1_3'UTR|CACHD1_ENST00000290039.5_Missense_Mutation_p.R162C	p.R213C			Q5VU97	CAHD1_HUMAN			5	637	+			213					Q49AE9|Q658T4|Q7Z3P2|Q9H7W4|Q9H9W3|Q9HCJ9	Missense_Mutation	SNP	ENST00000371073.2	37	c.637C>T		.	.	.	.	.	.	.	.	.	.	C	18.70	3.680275	0.68042	.	.	ENSG00000158966	ENST00000371073;ENST00000290039	T;T	0.56275	0.47;0.51	5.75	5.75	0.90469	.	0.000000	0.85682	D	0.000000	T	0.57666	0.2069	L	0.29908	0.895	0.80722	D	1	D	0.89917	1.0	D	0.74023	0.982	T	0.61917	-0.6964	10	0.87932	D	0	-24.2226	19.9598	0.97242	0.0:1.0:0.0:0.0	.	213	Q5VU97	CAHD1_HUMAN	C	213;162	ENSP00000360113:R213C;ENSP00000290039:R162C	ENSP00000290039:R162C	R	+	1	0	CACHD1	64867745	1.000000	0.71417	1.000000	0.80357	0.393000	0.30537	5.476000	0.66793	2.716000	0.92895	0.655000	0.94253	CGC		0.388	CACHD1-201	KNOWN	basic	protein_coding	protein_coding		NM_020925		30	48	0	0	0	1	0	30	48					T	65095157	C	T	65095157	3	4	435	1	0	0	0	0	1	0	0	0	2537	652	23	2	502	2	CACHD1	1	65095157	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	1095320	65095157	184155464	367	21292											
JAK1	3716	broad.mit.edu	37	chr1	65303726	65303726	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cttggtgttcactctcaacaAggacatttcttgctgccaag	9	13	8	11	0	3	0	2	0	2	0	4	1	3	1	1	2	3	2	1	2	3	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:65303726A>G	ENST00000342505.4	-	22	3277	c.3029T>C	c.(3028-3030)cTt>cCt	p.L1010P		NM_002227.2	NP_002218.2	P23458	JAK1_HUMAN	Janus kinase 1	1010	Protein kinase 2. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cytokine-mediated signaling pathway (GO:0019221)|enzyme linked receptor protein signaling pathway (GO:0007167)|interferon-gamma-mediated signaling pathway (GO:0060333)|interleukin-2-mediated signaling pathway (GO:0038110)|intracellular signal transduction (GO:0035556)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to antibiotic (GO:0046677)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|growth hormone receptor binding (GO:0005131)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)			breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(48)|kidney(3)|large_intestine(8)|liver(2)|lung(19)|ovary(1)|prostate(12)|skin(1)|soft_tissue(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	120				BRCA - Breast invasive adenocarcinoma(111;0.0485)	Ruxolitinib(DB08877)|Tofacitinib(DB08895)	ACTCTCAACAAGGACATTTCT	0.453			Mis		ALL																																	ENST00000342505.4				Dom	yes		1	1p32.3-p31.3	3716	Mis	Janus kinase 1			L			ALL		0				breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(48)|kidney(3)|large_intestine(8)|liver(2)|lung(19)|ovary(1)|prostate(12)|skin(1)|soft_tissue(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						c.(3028-3030)cTt>cCt		Janus kinase 1							86	78	81					1																	65303726		1892	4113	6005	SO:0001583	missense	3716				interferon-gamma-mediated signaling pathway|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to antibiotic|type I interferon-mediated signaling pathway	cytoskeleton|cytosol|endomembrane system|membrane|nucleus	ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity	g.chr1:65303726A>G	M64174	CCDS41346.1	1p32.3-p31.3	2009-07-10	2009-04-23		ENSG00000162434	ENSG00000162434	2.7.10.1		6190	protein-coding gene	gene with protein product		147795		JAK1B		1848670, 7698020	Standard	NM_002227		Approved	JAK1A, JTK3	uc001dbu.1	P23458	OTTHUMG00000009310	ENST00000342505.4:c.3029T>C	1.37:g.65303726A>G	ENSP00000343204:p.Leu1010Pro						p.L1010P	NM_002227.2	NP_002218.2	P23458	JAK1_HUMAN		BRCA - Breast invasive adenocarcinoma(111;0.0485)	22	3277	-			1010			Protein kinase 2.		Q59GQ2|Q9UD26	Missense_Mutation	SNP	ENST00000342505.4	37	c.3029T>C	CCDS41346.1	.	.	.	.	.	.	.	.	.	.	A	24.5	4.537694	0.85917	.	.	ENSG00000162434	ENST00000342505	D	0.96554	-4.05	5.23	5.23	0.72850	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	.	.	.	.	D	0.98476	0.9492	M	0.93197	3.39	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99793	1.1032	9	0.87932	D	0	-4.285	15.2931	0.73882	1.0:0.0:0.0:0.0	.	1010	P23458	JAK1_HUMAN	P	1010	ENSP00000343204:L1010P	ENSP00000343204:L1010P	L	-	2	0	JAK1	65076314	1.000000	0.71417	0.988000	0.46212	0.998000	0.95712	8.703000	0.91344	2.182000	0.69389	0.528000	0.53228	CTT		0.453	JAK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025791.1	NM_002227		16	18	0	0	0	1	0	16	18					G	65303726	A	G	65303726	3	3	435	1	0	0	0	0	1	0	0	0	7937	72	3	4	451	4	JAK1	1	65303726	Missense_Mutation	SNP	A	TCGA-XK-AAIW-01A-11D-A41K-08	208569	65303726	183946895	368	21293											
JAK1	3716	broad.mit.edu	37	chr1	65309756	65309756	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cacctgctcacctcaatcagCgtcttgtctttcaaggggat	8	12	8	13	1	6	0	4	0	2	0	6	1	6	1	2	2	2	1	2	2	2	2	rs200208839	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:65309756C>T	ENST00000342505.4	-	17	2642	c.2394G>A	c.(2392-2394)acG>acA	p.T798T	JAK1_ENST00000465376.1_5'UTR	NM_002227.2	NP_002218.2	P23458	JAK1_HUMAN	Janus kinase 1	798	Protein kinase 1. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cytokine-mediated signaling pathway (GO:0019221)|enzyme linked receptor protein signaling pathway (GO:0007167)|interferon-gamma-mediated signaling pathway (GO:0060333)|interleukin-2-mediated signaling pathway (GO:0038110)|intracellular signal transduction (GO:0035556)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to antibiotic (GO:0046677)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|growth hormone receptor binding (GO:0005131)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)			breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(48)|kidney(3)|large_intestine(8)|liver(2)|lung(19)|ovary(1)|prostate(12)|skin(1)|soft_tissue(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	120				BRCA - Breast invasive adenocarcinoma(111;0.0485)	Ruxolitinib(DB08877)|Tofacitinib(DB08895)	CCTCAATCAGCGTCTTGTCTT	0.572			Mis		ALL								C|||	2	0.000399361	0	0.0029	5008	,	,		18971	0		0	False		,,,				2504	0					ENST00000342505.4				Dom	yes		1	1p32.3-p31.3	3716	Mis	Janus kinase 1			L			ALL		0				breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(48)|kidney(3)|large_intestine(8)|liver(2)|lung(19)|ovary(1)|prostate(12)|skin(1)|soft_tissue(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						c.(2392-2394)acG>acA		Janus kinase 1		C		0,4092		0,0,2046	116	120	118		2394	-10.7	0	1		118	2,8388		0,2,4193	no	coding-synonymous	JAK1	NM_002227.2		0,2,6239	TT,TC,CC		0.0238,0.0,0.016		798/1155	65309756	2,12480	2046	4195	6241	SO:0001819	synonymous_variant	3716				interferon-gamma-mediated signaling pathway|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to antibiotic|type I interferon-mediated signaling pathway	cytoskeleton|cytosol|endomembrane system|membrane|nucleus	ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity	g.chr1:65309756C>T	M64174	CCDS41346.1	1p32.3-p31.3	2009-07-10	2009-04-23		ENSG00000162434	ENSG00000162434	2.7.10.1		6190	protein-coding gene	gene with protein product		147795		JAK1B		1848670, 7698020	Standard	NM_002227		Approved	JAK1A, JTK3	uc001dbu.1	P23458	OTTHUMG00000009310	ENST00000342505.4:c.2394G>A	1.37:g.65309756C>T						JAK1_ENST00000465376.1_5'UTR	p.T798T	NM_002227.2	NP_002218.2	P23458	JAK1_HUMAN		BRCA - Breast invasive adenocarcinoma(111;0.0485)	17	2642	-			798			Protein kinase 1.		Q59GQ2|Q9UD26	Silent	SNP	ENST00000342505.4	37	c.2394G>A	CCDS41346.1																																																																																				0.572	JAK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025791.1	NM_002227		11	30	0	0	0	1	0	11	30					T	65309756	C	T	65309756	2	4	435	1	0	0	0	0	0	0	0	1	7937	755	27	1		1	JAK1	1	65309756	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	6030	65309756	183940865	369	21294											
LEPROT	54741	broad.mit.edu	37	chr1	65895626	65895626	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccaaaagagtcacctatgaCtcagatgcaaccagtagtgc	14	7	9	11	0	2	3	2	1	0	2	2	3	2	3	3	0	3	2	3	0	5	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:65895626C>T	ENST00000371065.4	+	3	312	c.174C>T	c.(172-174)gaC>gaT	p.D58D	LEPROT_ENST00000484243.1_3'UTR|LEPR_ENST00000344610.8_Intron|LEPR_ENST00000349533.6_Intron|LEPR_ENST00000406510.3_Intron|LEPR_ENST00000371060.3_Intron|LEPR_ENST00000371059.3_Intron	NM_001198681.1|NM_017526.4	NP_001185610.1|NP_059996.1	O15243	OBRG_HUMAN	leptin receptor overlapping transcript	58					negative regulation of growth hormone receptor signaling pathway (GO:0060400)|negative regulation of JAK-STAT cascade (GO:0046426)|negative regulation of protein localization to cell surface (GO:2000009)	endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	receptor binding (GO:0005102)			kidney(1)|large_intestine(1)|lung(5)	7				OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)		TCACCTATGACTCAGATGCAA	0.488																																						ENST00000371065.4																			0				kidney(1)|large_intestine(1)|lung(5)	7						c.(172-174)gaC>gaT		leptin receptor overlapping transcript							299	282	288					1																	65895626		2203	4300	6503	SO:0001819	synonymous_variant	54741					endosome membrane|Golgi membrane|integral to plasma membrane		g.chr1:65895626C>T	Y12670	CCDS630.1, CCDS72801.1	1p31.2	2008-02-05			ENSG00000213625	ENSG00000213625			29477	protein-coding gene	gene with protein product	"leptin receptor gene related protein"	613461				9207021	Standard	NM_001198681		Approved	OBRGRP, OB-RGRP, VPS55, FLJ90360	uc001dcf.3	O15243	OTTHUMG00000009065	ENST00000371065.4:c.174C>T	1.37:g.65895626C>T						LEPR_ENST00000406510.3_Intron|LEPR_ENST00000371060.3_Intron|LEPR_ENST00000371059.3_Intron|LEPR_ENST00000349533.6_Intron|LEPR_ENST00000344610.8_Intron|LEPROT_ENST00000484243.1_3'UTR	p.D58D	NM_001198681.1|NM_017526.4	NP_001185610.1|NP_059996.1	O15243	OBRG_HUMAN		OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)	3	312	+			58					Q6FHL5	Silent	SNP	ENST00000371065.4	37	c.174C>T	CCDS630.1																																																																																				0.488	LEPROT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025132.4	NM_017526		68	95	0	0	0	1	0	68	95					T	65895626	C	T	65895626	2	4	435	1	0	0	0	0	0	0	0	1	8732	564	20	3		3	LEPROT	1	65895626	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	585870	65895626	183354995	370	21295											
SGIP1	84251	broad.mit.edu	37	chr1	67142747	67142747	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aattaatccaagcatggagtCgccaaagttaacaaggcctt	15	9	8	9	1	0	0	0	0	0	0	2	1	1	1	3	2	2	2	3	2	6	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:67142747C>T	ENST00000371037.4	+	13	784	c.707C>T	c.(706-708)tCg>tTg	p.S236L	SGIP1_ENST00000371036.3_Missense_Mutation_p.S203L|SGIP1_ENST00000468286.1_3'UTR|AL139147.1_ENST00000502413.2_5'Flank|SGIP1_ENST00000237247.6_Missense_Mutation_p.S240L|SGIP1_ENST00000371035.3_Missense_Mutation_p.S193L|SGIP1_ENST00000371039.1_Missense_Mutation_p.S204L	NM_032291.2	NP_115667.2	Q9BQI5	SGIP1_HUMAN	SH3-domain GRB2-like (endophilin) interacting protein 1	236	Pro-rich.				endocytosis (GO:0006897)|membrane tubulation (GO:0097320)|positive regulation of energy homeostasis (GO:2000507)|positive regulation of feeding behavior (GO:2000253)|positive regulation of receptor-mediated endocytosis (GO:0048260)|response to dietary excess (GO:0002021)	AP-2 adaptor complex (GO:0030122)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	microtubule binding (GO:0008017)|phospholipid binding (GO:0005543)|SH3 domain binding (GO:0017124)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(43)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	71						AGCATGGAGTCGCCAAAGTTA	0.403																																						ENST00000371037.4																			0				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(43)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	71						c.(706-708)tCg>tTg		SH3-domain GRB2-like (endophilin) interacting protein 1							130	129	129					1																	67142747		2203	4300	6503	SO:0001583	missense	84251				positive regulation of energy homeostasis|positive regulation of feeding behavior|positive regulation of receptor-mediated endocytosis|response to dietary excess	AP-2 adaptor complex	microtubule binding|phospholipid binding|SH3 domain binding	g.chr1:67142747C>T	AL136561	CCDS30744.1	1p31.3	2008-02-05			ENSG00000118473	ENSG00000118473			25412	protein-coding gene	gene with protein product		611540				11230166	Standard	NM_032291		Approved	DKFZp761D221	uc001dcr.3	Q9BQI5	OTTHUMG00000009161	ENST00000371037.4:c.707C>T	1.37:g.67142747C>T	ENSP00000360076:p.Ser236Leu					SGIP1_ENST00000371035.3_Missense_Mutation_p.S193L|SGIP1_ENST00000371036.3_Missense_Mutation_p.S203L|SGIP1_ENST00000371039.1_Missense_Mutation_p.S204L|SGIP1_ENST00000237247.6_Missense_Mutation_p.S240L|SGIP1_ENST00000468286.1_3'UTR	p.S236L	NM_032291.2	NP_115667.2	Q9BQI5	SGIP1_HUMAN			13	784	+			236			Pro-rich.		A6NL81|A6NLD1|Q4LE32|Q5VYE2|Q5VYE3|Q5VYE4|Q68D76|Q6MZY6|Q8IWC2	Missense_Mutation	SNP	ENST00000371037.4	37	c.707C>T	CCDS30744.1	.	.	.	.	.	.	.	.	.	.	C	27.6	4.845032	0.91197	.	.	ENSG00000118473	ENST00000237247;ENST00000371039;ENST00000424320;ENST00000371035;ENST00000371038;ENST00000407289;ENST00000371036;ENST00000371037	T;T;T;T;T;T	0.03413	3.94;3.94;3.94;3.94;3.94;3.94	5.35	5.35	0.76521	.	0.000000	0.64402	D	0.000002	T	0.09642	0.0237	L	0.53249	1.67	0.42777	D	0.993851	D;P;P;D	0.76494	0.999;0.688;0.553;0.994	D;B;B;D	0.71656	0.974;0.08;0.08;0.921	T	0.11591	-1.0581	10	0.45353	T	0.12	-8.572	19.0678	0.93119	0.0:1.0:0.0:0.0	.	239;3;193;236	A6NEV3;B3KR01;B7Z5H8;Q9BQI5	.;.;.;SGIP1_HUMAN	L	240;204;228;193;239;239;203;236	ENSP00000237247:S240L;ENSP00000360078:S204L;ENSP00000410439:S228L;ENSP00000360074:S193L;ENSP00000360075:S203L;ENSP00000360076:S236L	ENSP00000237247:S240L	S	+	2	0	SGIP1	66915335	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.135000	0.71696	2.506000	0.84524	0.655000	0.94253	TCG		0.403	SGIP1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000025395.4	NM_032291		30	48	0	0	0	1	0	30	48					T	67142747	C	T	67142747	3	4	435	1	0	0	0	0	1	0	0	0	14206	893	31	2	757	2	SGIP1	1	67142747	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	1247121	67142747	182107874	371	21296											
MIER1	57708	broad.mit.edu	37	chr1	67411867	67411867	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcagatgaccatgaatttgaTccatcagctgacatgctggt	11	12	9	9	0	2	5	2	4	0	1	3	5	3	5	2	1	2	2	2	1	1	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:67411867T>A	ENST00000355356.3	+	3	218	c.69T>A	c.(67-69)gaT>gaA	p.D23E	MIER1_ENST00000355977.6_Intron|MIER1_ENST00000371018.3_Missense_Mutation_p.D40E|MIER1_ENST00000401042.3_Missense_Mutation_p.D23E|MIER1_ENST00000357692.2_Missense_Mutation_p.D40E|MIER1_ENST00000401041.1_Missense_Mutation_p.D76E|MIER1_ENST00000371016.1_Missense_Mutation_p.D40E|MIER1_ENST00000479067.1_3'UTR|MIER1_ENST00000371012.2_Missense_Mutation_p.D40E|MIER1_ENST00000371014.1_Missense_Mutation_p.D76E	NM_001077701.2|NM_001077704.2	NP_001071169.1|NP_001071172.1	Q8N108	MIER1_HUMAN	mesoderm induction early response 1, transcriptional regulator	23					positive regulation of chromatin silencing (GO:0031937)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|signal transducer activity (GO:0004871)			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|urinary_tract(3)	15						ATGAATTTGATCCATCAGCTG	0.343																																						ENST00000357692.2																			0				breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|urinary_tract(3)	15						c.(118-120)gaT>gaA		mesoderm induction early response 1, transcriptional regulator							118	107	111					1																	67411867		1849	4091	5940	SO:0001583	missense	57708				positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity	g.chr1:67411867T>A		CCDS41347.1, CCDS41348.1, CCDS53325.1, CCDS53326.1, CCDS53327.1, CCDS53328.1, CCDS53329.1, CCDS53330.1, CCDS60163.1	1p31.2	2013-07-23	2013-07-23		ENSG00000198160	ENSG00000198160			29657	protein-coding gene	gene with protein product			"mesoderm induction early response 1 homolog (Xenopus laevis)"			12242014, 12482978	Standard	NM_020948		Approved	hMI-ER1, MI-ER1, KIAA1610	uc001dde.2	Q8N108	OTTHUMG00000009194	ENST00000355356.3:c.69T>A	1.37:g.67411867T>A	ENSP00000347514:p.Asp23Glu					MIER1_ENST00000371018.3_Missense_Mutation_p.D40E|MIER1_ENST00000371014.1_Missense_Mutation_p.D76E|MIER1_ENST00000401041.1_Missense_Mutation_p.D76E|MIER1_ENST00000355977.6_Intron|MIER1_ENST00000401042.3_Missense_Mutation_p.D23E|MIER1_ENST00000371012.2_Missense_Mutation_p.D40E|MIER1_ENST00000479067.1_3'UTR|MIER1_ENST00000355356.3_Missense_Mutation_p.D23E|MIER1_ENST00000371016.1_Missense_Mutation_p.D40E	p.D40E	NM_001146110.1	NP_001139582.1	Q8N108	MIER1_HUMAN			5	377	+			47					C9JFD4|Q08AE0|Q32NC4|Q5T104|Q5TAD1|Q5TAD2|Q5TAD4|Q5TAD5|Q6AHY8|Q86TB4|Q8N156|Q8N161|Q8NC37|Q8NES4|Q8NES5|Q8NES6|Q8WWG2|Q9HCG2	Missense_Mutation	SNP	ENST00000355356.3	37	c.120T>A	CCDS41348.1	.	.	.	.	.	.	.	.	.	.	T	13.60	2.285523	0.40394	.	.	ENSG00000198160	ENST00000371017;ENST00000371018;ENST00000357692;ENST00000401041;ENST00000371016;ENST00000371014;ENST00000371012;ENST00000401042;ENST00000355356	T;T;T;T;T;T;T;T	0.23348	1.91;1.91;1.91;1.91;1.91;1.91;1.91;1.91	5.24	2.93	0.34026	.	0.213099	0.47093	D	0.000250	T	0.03263	0.0095	N	0.04508	-0.205	0.80722	D	1	B;B;B;B;B;B;B	0.19935	0.02;0.009;0.006;0.04;0.016;0.034;0.019	B;B;B;B;B;B;B	0.20384	0.02;0.011;0.016;0.026;0.024;0.029;0.029	T	0.26916	-1.0089	10	0.19590	T	0.45	-67.8302	4.8487	0.13526	0.0:0.2617:0.1542:0.5841	.	40;40;23;23;40;76;76	Q5TAD2;Q32NC4;Q8N108-3;Q8N108-6;Q8N108-10;Q5TAD5;Q5TAD4	.;.;.;.;.;.;.	E	44;40;40;76;40;76;40;23;23	ENSP00000360057:D40E;ENSP00000350321:D40E;ENSP00000383820:D76E;ENSP00000360055:D40E;ENSP00000360053:D76E;ENSP00000360051:D40E;ENSP00000383821:D23E;ENSP00000347514:D23E	ENSP00000347514:D23E	D	+	3	2	MIER1	67184455	0.997000	0.39634	1.000000	0.80357	0.996000	0.88848	0.401000	0.20948	0.950000	0.37743	-0.256000	0.11100	GAT		0.343	MIER1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025491.2	NM_020948		31	47	0	0	0	1	0	31	47					A	67411867	T	A	67411867	3	1	435	1	0	0	0	0	1	0	0	0	9580	1432	50	5	319	5	MIER1	1	67411867	Missense_Mutation	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	269120	67411867	181838754	372	21297											
MIER1	57708	broad.mit.edu	37	chr1	67447511	67447511	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtgaaagtgctgcatctagtCgagcaccatcccctccccca	9	8	8	16	1	1	1	0	1	1	0	4	2	3	1	5	0	3	3	5	0	2	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:67447511C>T	ENST00000355356.3	+	12	1269	c.1120C>T	c.(1120-1122)Cga>Tga	p.R374*	MIER1_ENST00000355977.6_Nonsense_Mutation_p.R311*|MIER1_ENST00000371018.3_Nonsense_Mutation_p.R391*|MIER1_ENST00000401042.3_Nonsense_Mutation_p.R374*|MIER1_ENST00000357692.2_Nonsense_Mutation_p.R391*|MIER1_ENST00000401041.1_Nonsense_Mutation_p.R427*|MIER1_ENST00000371016.1_Nonsense_Mutation_p.R391*|MIER1_ENST00000371014.1_Nonsense_Mutation_p.R427*	NM_001077701.2|NM_001077704.2	NP_001071169.1|NP_001071172.1	Q8N108	MIER1_HUMAN	mesoderm induction early response 1, transcriptional regulator	374					positive regulation of chromatin silencing (GO:0031937)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|signal transducer activity (GO:0004871)			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|urinary_tract(3)	15						TGCATCTAGTCGAGCACCATC	0.378																																						ENST00000357692.2																			0				breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|urinary_tract(3)	15						c.(1171-1173)Cga>Tga		mesoderm induction early response 1, transcriptional regulator							82	78	80					1																	67447511		1910	4123	6033	SO:0001587	stop_gained	57708				positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity	g.chr1:67447511C>T		CCDS41347.1, CCDS41348.1, CCDS53325.1, CCDS53326.1, CCDS53327.1, CCDS53328.1, CCDS53329.1, CCDS53330.1, CCDS60163.1	1p31.2	2013-07-23	2013-07-23		ENSG00000198160	ENSG00000198160			29657	protein-coding gene	gene with protein product			"mesoderm induction early response 1 homolog (Xenopus laevis)"			12242014, 12482978	Standard	NM_020948		Approved	hMI-ER1, MI-ER1, KIAA1610	uc001dde.2	Q8N108	OTTHUMG00000009194	ENST00000355356.3:c.1120C>T	1.37:g.67447511C>T	ENSP00000347514:p.Arg374*					MIER1_ENST00000371018.3_Nonsense_Mutation_p.R391*|MIER1_ENST00000371014.1_Nonsense_Mutation_p.R427*|MIER1_ENST00000401041.1_Nonsense_Mutation_p.R427*|MIER1_ENST00000355977.6_Nonsense_Mutation_p.R311*|MIER1_ENST00000401042.3_Nonsense_Mutation_p.R374*|MIER1_ENST00000355356.3_Nonsense_Mutation_p.R374*|MIER1_ENST00000371016.1_Nonsense_Mutation_p.R391*	p.R391*	NM_001146110.1	NP_001139582.1	Q8N108	MIER1_HUMAN			14	1428	+			398					C9JFD4|Q08AE0|Q32NC4|Q5T104|Q5TAD1|Q5TAD2|Q5TAD4|Q5TAD5|Q6AHY8|Q86TB4|Q8N156|Q8N161|Q8NC37|Q8NES4|Q8NES5|Q8NES6|Q8WWG2|Q9HCG2	Nonsense_Mutation	SNP	ENST00000355356.3	37	c.1171C>T	CCDS41348.1	.	.	.	.	.	.	.	.	.	.	C	26.5	4.741130	0.89573	.	.	ENSG00000198160	ENST00000371017;ENST00000371018;ENST00000355977;ENST00000357692;ENST00000401041;ENST00000371016;ENST00000371014;ENST00000401042;ENST00000355356	.	.	.	5.68	3.67	0.42095	.	0.101782	0.64402	D	0.000004	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-22.6397	13.9958	0.64397	0.4141:0.5859:0.0:0.0	.	.	.	.	X	395;391;311;391;427;391;427;374;374	.	ENSP00000347514:R374X	R	+	1	2	MIER1	67220099	0.350000	0.24878	0.762000	0.31397	0.464000	0.32679	0.817000	0.27281	1.526000	0.49068	0.650000	0.86243	CGA		0.378	MIER1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025491.2	NM_020948		15	21	0	0	0	1	0	15	21					T	67447511	C	T	67447511	4	4	435	1	0	0	0	0	0	1	0	0	9580	876	31	2	1406	2	MIER1	1	67447511	Nonsense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	35644	67447511	181803110	373	21298											
SLC35D1	23169	broad.mit.edu	37	chr1	67507943	67507943	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgtgcatctcctgtgaaataCgcaatggccagggtgggcag	9	9	14	9	1	1	1	0	1	1	0	2	1	1	1	2	3	2	3	2	3	3	1	rs142750829	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:67507943C>T	ENST00000235345.5	-	8	790	c.705G>A	c.(703-705)gcG>gcA	p.A235A	SLC35D1_ENST00000506472.2_Silent_p.A156A	NM_015139.2	NP_055954.1	Q9NTN3	S35D1_HUMAN	solute carrier family 35 (UDP-GlcA/UDP-GalNAc transporter), member D1	235					carbohydrate transport (GO:0008643)|cellular glucuronidation (GO:0052695)|chondroitin sulfate biosynthetic process (GO:0030206)|embryonic skeletal system development (GO:0048706)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|UDP-glucuronate biosynthetic process (GO:0006065)|UDP-glucuronic acid transport (GO:0015787)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	UDP-glucuronic acid transmembrane transporter activity (GO:0005461)			endometrium(2)|kidney(1)|large_intestine(3)|lung(4)	10						CTGTGAAATACGCAATGGCCA	0.388																																						ENST00000235345.5																			0				endometrium(2)|kidney(1)|large_intestine(3)|lung(4)	10						c.(703-705)gcG>gcA		solute carrier family 35 (UDP-GlcA/UDP-GalNAc transporter), member D1	Lorazepam(DB00186)	C		0,4406		0,0,2203	255	245	249		705	-11.3	0.4	1	dbSNP_134	249	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	SLC35D1	NM_015139.2		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		235/356	67507943	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	23169				chondroitin sulfate biosynthetic process|UDP-glucuronate biosynthetic process|xenobiotic metabolic process	integral to endoplasmic reticulum membrane	UDP-glucuronic acid transmembrane transporter activity|UDP-N-acetylgalactosamine transmembrane transporter activity	g.chr1:67507943C>T	AB044343	CCDS636.1	1p32-p31	2013-07-17	2013-07-17		ENSG00000116704	ENSG00000116704		"Solute carriers"	20800	protein-coding gene	gene with protein product		610804	"solute carrier family 35 (UDP-glucuronic acid/UDP-N-acetylgalactosamine dual transporter), member D1"			11322953	Standard	NM_015139		Approved	UGTREL7, KIAA0260	uc001ddk.2	Q9NTN3	OTTHUMG00000009360	ENST00000235345.5:c.705G>A	1.37:g.67507943C>T						SLC35D1_ENST00000506472.2_Silent_p.A156A	p.A235A	NM_015139.2	NP_055954.1	Q9NTN3	S35D1_HUMAN			8	790	-			235					A8K185|B7Z3X2|Q52LU5|Q92548	Silent	SNP	ENST00000235345.5	37	c.705G>A	CCDS636.1																																																																																				0.388	SLC35D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025948.1	NM_015139		49	84	0	0	0	1	0	49	84					T	67507943	C	T	67507943	2	4	435	1	0	0	0	0	0	0	0	1	14581	523	19	1		1	SLC35D1	1	67507943	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	60432	67507943	181742678	374	21299											
DIRAS3	9077	broad.mit.edu	37	chr1	68512685	68512685	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taacgtggcgctgcagagcgCggttgccgtcgccactcttg	5	9	14	13	6	1	1	0	0	1	1	2	1	1	1	2	2	4	3	2	2	1	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:68512685C>T	ENST00000370981.1	-	4	932	c.296G>A	c.(295-297)cGc>cAc	p.R99H	GNG12-AS1_ENST00000413628.1_RNA|GNG12-AS1_ENST00000420587.1_RNA|DIRAS3_ENST00000395201.1_Missense_Mutation_p.R99H			O95661	DIRA3_HUMAN	DIRAS family, GTP-binding RAS-like 3	99					regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of gene expression by genetic imprinting (GO:0006349)|small GTPase mediated signal transduction (GO:0007264)	plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)	p.R99H(1)		NS(1)|cervix(1)|endometrium(2)|large_intestine(1)|lung(6)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						CTGCAGAGCGCGGTTGCCGTC	0.587																																						ENST00000370981.1																			1	Substitution - Missense(1)	p.R99H(1)	endometrium(1)	NS(1)|cervix(1)|endometrium(2)|large_intestine(1)|lung(6)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						c.(295-297)cGc>cAc		DIRAS family, GTP-binding RAS-like 3							112	118	116					1																	68512685		2203	4300	6503	SO:0001583	missense	9077				regulation of cyclin-dependent protein kinase activity|regulation of gene expression by genetic imprinting|small GTPase mediated signal transduction	plasma membrane	GTP binding|GTPase activity	g.chr1:68512685C>T	U96750	CCDS641.1	1p31	2014-05-09		2005-01-27	ENSG00000162595	ENSG00000162595			687	protein-coding gene	gene with protein product		605193	"ras homolog gene family, member I"	ARHI		9874798	Standard	XM_006711027		Approved	NOEY2	uc001ded.3	O95661	OTTHUMG00000009544	ENST00000370981.1:c.296G>A	1.37:g.68512685C>T	ENSP00000360020:p.Arg99His					GNG12-AS1_ENST00000420587.1_RNA|GNG12-AS1_ENST00000413628.1_RNA|DIRAS3_ENST00000395201.1_Missense_Mutation_p.R99H	p.R99H			O95661	DIRA3_HUMAN			4	932	-			99					B3KMP3	Missense_Mutation	SNP	ENST00000370981.1	37	c.296G>A	CCDS641.1	.	.	.	.	.	.	.	.	.	.	C	14.07	2.424581	0.43020	.	.	ENSG00000162595	ENST00000370981;ENST00000395201	T;T	0.77877	-1.13;-1.13	0.427	0.427	0.16489	Small GTP-binding protein domain (1);	.	.	.	.	T	0.70579	0.3240	L	0.45352	1.415	0.26419	N	0.976137	D	0.71674	0.998	D	0.63488	0.915	T	0.59506	-0.7442	8	0.72032	D	0.01	.	.	.	.	.	99	O95661	DIRA3_HUMAN	H	99	ENSP00000360020:R99H;ENSP00000378627:R99H	ENSP00000360020:R99H	R	-	2	0	DIRAS3	68285273	0.992000	0.36948	0.002000	0.10522	0.014000	0.08584	2.790000	0.47821	0.458000	0.26988	0.467000	0.42956	CGC		0.587	DIRAS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026354.2	NM_004675		35	57	0	0	0	1	0	35	57					T	68512685	C	T	68512685	3	4	435	1	0	0	0	0	1	0	0	0	4532	768	27	1	397	1	DIRAS3	1	68512685	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	1004742	68512685	180737936	375	21300											
DEPDC1	55635	broad.mit.edu	37	chr1	68954165	68954165	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tatgacttcttctagggatgGcacacctaaaatggtttgca	11	13	9	8	0	2	1	0	1	2	0	2	2	2	2	1	3	1	3	1	3	4	6			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:68954165G>A	ENST00000456315.2	-	5	727	c.613C>T	c.(613-615)Cca>Tca	p.P205S	DEPDC1_ENST00000370966.5_Missense_Mutation_p.P205S	NM_001114120.1	NP_001107592.1	Q5TB30	DEP1A_HUMAN	DEP domain containing 1	205					intracellular signal transduction (GO:0035556)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	GTPase activator activity (GO:0005096)			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	13				OV - Ovarian serous cystadenocarcinoma(397;7.21e-36)		TCTAGGGATGGCACACCTAAA	0.303																																						ENST00000456315.2																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	13						c.(613-615)Cca>Tca		DEP domain containing 1							108	99	102					1																	68954165		2203	4300	6503	SO:0001583	missense	55635				intracellular signal transduction|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	transcriptional repressor complex	GTPase activator activity|protein binding	g.chr1:68954165G>A	AK000361	CCDS644.1, CCDS44159.1	1p31.2	2008-08-19			ENSG00000024526	ENSG00000024526			22949	protein-coding gene	gene with protein product		612002					Standard	NM_001114120		Approved	DEP.8, FLJ20354, SDP35, DEPDC1A	uc001dem.4	Q5TB30	OTTHUMG00000009212	ENST00000456315.2:c.613C>T	1.37:g.68954165G>A	ENSP00000412292:p.Pro205Ser					DEPDC1_ENST00000370966.5_Missense_Mutation_p.P205S	p.P205S	NM_001114120.1	NP_001107592.1	Q5TB30	DEP1A_HUMAN		OV - Ovarian serous cystadenocarcinoma(397;7.21e-36)	5	727	-			205					A8QXE0|A8QXE1|Q05DU3|Q5TB28|Q9H9I3|Q9NX21|Q9NXZ0	Missense_Mutation	SNP	ENST00000456315.2	37	c.613C>T	CCDS44159.1	.	.	.	.	.	.	.	.	.	.	G	9.582	1.123885	0.20959	.	.	ENSG00000024526	ENST00000456315;ENST00000370966;ENST00000370964	T;T	0.12879	2.83;2.64	5.43	-2.47	0.06442	.	0.608776	0.18427	N	0.141546	T	0.01765	0.0056	N	0.11064	0.09	0.21445	N	0.999685	B;B	0.06786	0.001;0.001	B;B	0.09377	0.004;0.004	T	0.45527	-0.9255	9	.	.	.	-0.1192	12.3646	0.55222	0.4867:0.0:0.5133:0.0	.	205;205	Q5TB30;Q5TB30-2	DEP1A_HUMAN;.	S	205;205;150	ENSP00000412292:P205S;ENSP00000360005:P205S	.	P	-	1	0	DEPDC1	68726753	0.002000	0.14202	0.807000	0.32361	0.960000	0.62799	-0.153000	0.10144	-0.249000	0.09569	0.650000	0.86243	CCA		0.303	DEPDC1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000025514.2	NM_017779		16	27	0	0	0	1	0	16	27					A	68954165	G	A	68954165	3	1	435	1	0	0	0	0	1	0	0	0	4439	1203	42	3	1854	3	DEPDC1	1	68954165	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	441480	68954165	180296456	376	21301											
LRRC7	57554	broad.mit.edu	37	chr1	70257825	70257825	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtttagttaatcttaaagaaCtcgacatcagtaaaaatggt	16	13	7	5	1	2	1	1	0	1	1	3	2	2	1	0	1	1	3	0	1	8	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:70257825C>T	ENST00000035383.5	+	2	319	c.289C>T	c.(289-291)Ctc>Ttc	p.L97F	LRRC7_ENST00000310961.5_Missense_Mutation_p.L102F|LRRC7_ENST00000415775.2_5'UTR|LRRC7_ENST00000370958.1_Missense_Mutation_p.L135F	NM_020794.2	NP_065845.1	Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	97						cell junction (GO:0030054)|cytoplasm (GO:0005737)|postsynaptic membrane (GO:0045211)				breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						TCTTAAAGAACTCGACATCAG	0.308																																						ENST00000310961.5																			0				breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						c.(304-306)Ctc>Ttc		leucine rich repeat containing 7							83	91	88					1																	70257825		2202	4295	6497	SO:0001583	missense	57554					centrosome|focal adhesion|nucleolus	protein binding	g.chr1:70257825C>T		CCDS645.1	1p31.1	2008-02-05			ENSG00000033122	ENSG00000033122			18531	protein-coding gene	gene with protein product		614453				12525888	Standard	NM_020794		Approved	KIAA1365, densin-180	uc001dep.3	Q96NW7	OTTHUMG00000059194	ENST00000035383.5:c.289C>T	1.37:g.70257825C>T	ENSP00000035383:p.Leu97Phe					LRRC7_ENST00000415775.2_5'UTR|LRRC7_ENST00000035383.5_Missense_Mutation_p.L97F|LRRC7_ENST00000370958.1_Missense_Mutation_p.L135F	p.L102F			Q96NW7	LRRC7_HUMAN			5	722	+			97					Q5VXC2|Q5VXC3|Q68D07|Q86VE8|Q8WX20|Q9P2I2	Missense_Mutation	SNP	ENST00000035383.5	37	c.304C>T	CCDS645.1	.	.	.	.	.	.	.	.	.	.	C	19.86	3.905225	0.72868	.	.	ENSG00000033122	ENST00000310961;ENST00000370958;ENST00000035383;ENST00000335298	T;T;T	0.61158	0.13;0.74;0.83	5.68	5.68	0.88126	.	0.000000	0.85682	D	0.000000	T	0.72590	0.3479	M	0.87328	2.875	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.76881	-0.2795	10	0.62326	D	0.03	.	10.6836	0.45830	0.0:0.9138:0.0:0.0862	.	97;135	Q96NW7;B1AKT2	LRRC7_HUMAN;.	F	102;135;97;97	ENSP00000309245:L102F;ENSP00000359997:L135F;ENSP00000035383:L97F	ENSP00000035383:L97F	L	+	1	0	LRRC7	70030413	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.180000	0.50895	2.683000	0.91414	0.561000	0.74099	CTC		0.308	LRRC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131261.1	NM_020794		22	43	0	0	0	1	0	22	43					T	70257825	C	T	70257825	3	4	435	1	0	0	0	0	1	0	0	0	9020	565	20	3	295	3	LRRC7	1	70257825	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	1303660	70257825	178992796	377	21302											
LRRC7	57554	broad.mit.edu	37	chr1	70504190	70504190	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtccgtttgaagacaggaccGcttttccttccaaattagag	10	12	9	10	2	0	3	0	1	0	2	3	4	3	4	4	1	0	2	4	1	3	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:70504190G>A	ENST00000035383.5	+	19	2599	c.2569G>A	c.(2569-2571)Gct>Act	p.A857T	LRRC7_ENST00000310961.5_Missense_Mutation_p.A862T|LRRC7_ENST00000415775.2_Missense_Mutation_p.A141T	NM_020794.2	NP_065845.1	Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	857						cell junction (GO:0030054)|cytoplasm (GO:0005737)|postsynaptic membrane (GO:0045211)		p.A857T(1)		breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						AGACAGGACCGCTTTTCCTTC	0.468																																						ENST00000310961.5																			1	Substitution - Missense(1)	p.A857T(1)	endometrium(1)	breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						c.(2584-2586)Gct>Act		leucine rich repeat containing 7							80	89	86					1																	70504190		2203	4300	6503	SO:0001583	missense	57554					centrosome|focal adhesion|nucleolus	protein binding	g.chr1:70504190G>A		CCDS645.1	1p31.1	2008-02-05			ENSG00000033122	ENSG00000033122			18531	protein-coding gene	gene with protein product		614453				12525888	Standard	NM_020794		Approved	KIAA1365, densin-180	uc001dep.3	Q96NW7	OTTHUMG00000059194	ENST00000035383.5:c.2569G>A	1.37:g.70504190G>A	ENSP00000035383:p.Ala857Thr					LRRC7_ENST00000415775.2_Missense_Mutation_p.A141T|LRRC7_ENST00000035383.5_Missense_Mutation_p.A857T	p.A862T			Q96NW7	LRRC7_HUMAN			22	3002	+			857					Q5VXC2|Q5VXC3|Q68D07|Q86VE8|Q8WX20|Q9P2I2	Missense_Mutation	SNP	ENST00000035383.5	37	c.2584G>A	CCDS645.1	.	.	.	.	.	.	.	.	.	.	G	23.6	4.437615	0.83885	.	.	ENSG00000033122	ENST00000310961;ENST00000035383;ENST00000415775;ENST00000370957	T;T;T	0.56275	0.47;0.57;1.68	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	T	0.62563	0.2438	L	0.53249	1.67	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.996;0.99	T	0.53258	-0.8464	10	0.28530	T	0.3	.	19.3033	0.94151	0.0:0.0:1.0:0.0	.	141;857;857	F8WE45;Q96NW7-2;Q96NW7	.;.;LRRC7_HUMAN	T	862;857;141;680	ENSP00000309245:A862T;ENSP00000035383:A857T;ENSP00000394867:A141T	ENSP00000035383:A857T	A	+	1	0	LRRC7	70276778	1.000000	0.71417	0.998000	0.56505	0.857000	0.48899	9.447000	0.97595	2.809000	0.96659	0.467000	0.42956	GCT		0.468	LRRC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131261.1	NM_020794		31	58	0	0	0	1	0	31	58					A	70504190	G	A	70504190	3	1	435	1	0	0	0	0	1	0	0	0	9020	1087	38	1	2643	1	LRRC7	1	70504190	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	246365	70504190	178746431	378	21303											
ANKRD13C	81573	broad.mit.edu	37	chr1	70771970	70771970	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcagaattcgggaaagtaaaGgcactgtatttttaaaaaca	17	10	9	5	1	0	1	0	0	0	1	1	2	0	2	0	2	1	4	0	2	8	6			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:70771970G>T	ENST00000370944.4	-	6	1026	c.713C>A	c.(712-714)cCt>cAt	p.P238H	ANKRD13C_ENST00000262346.6_Missense_Mutation_p.P203H	NM_030816.4	NP_110443.3	Q8N6S4	AN13C_HUMAN	ankyrin repeat domain 13C	238					protein retention in ER lumen (GO:0006621)|regulation of anoikis (GO:2000209)|regulation of receptor biosynthetic process (GO:0010869)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	receptor binding (GO:0005102)			endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(1)	19						GGAAAGTAAAGGCACTGTATT	0.274																																						ENST00000370944.4																			0				endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(1)	19						c.(712-714)cCt>cAt		ankyrin repeat domain 13C							80	84	83					1																	70771970		2202	4295	6497	SO:0001583	missense	81573				protein retention in ER lumen|regulation of anoikis|regulation of receptor biosynthetic process	endoplasmic reticulum membrane|perinuclear region of cytoplasm	receptor binding	g.chr1:70771970G>T		CCDS648.2	1p32.3-p31.3	2013-01-10			ENSG00000118454	ENSG00000118454		"Ankyrin repeat domain containing"	25374	protein-coding gene	gene with protein product		615125				11230166	Standard	NM_030816		Approved	DKFZP566D1346, dJ677H15.3	uc001dex.4	Q8N6S4	OTTHUMG00000009343	ENST00000370944.4:c.713C>A	1.37:g.70771970G>T	ENSP00000359982:p.Pro238His					ANKRD13C_ENST00000262346.6_Missense_Mutation_p.P203H	p.P238H	NM_030816.4	NP_110443.3	Q8N6S4	AN13C_HUMAN			6	1026	-			238					B3KQ97|Q5VYH4|Q5VYH5|Q6PJE4|Q9H0N9	Missense_Mutation	SNP	ENST00000370944.4	37	c.713C>A	CCDS648.2	.	.	.	.	.	.	.	.	.	.	G	29.0	4.970368	0.92919	.	.	ENSG00000118454	ENST00000370944;ENST00000262346	T;T	0.81415	-0.45;-1.49	5.92	5.92	0.95590	Ankyrin repeat-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.90872	0.7132	M	0.87758	2.905	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.997	D	0.91211	0.4999	10	0.87932	D	0	.	20.3206	0.98668	0.0:0.0:1.0:0.0	.	203;238	Q8N6S4-2;Q8N6S4	.;AN13C_HUMAN	H	238;203	ENSP00000359982:P238H;ENSP00000262346:P203H	ENSP00000262346:P203H	P	-	2	0	ANKRD13C	70544558	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.666000	0.83877	2.809000	0.96659	0.655000	0.94253	CCT		0.274	ANKRD13C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025903.1	NM_030816		24	39	1	0	7.01153e-11	1	7.51403e-11	24	39					T	70771970	G	T	70771970	3	4	435	1	0	0	0	0	1	0	0	0	643	1000	35	5	944	5	ANKRD13C	1	70771970	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	267780	70771970	178478651	379	21304											
CTH	1491	broad.mit.edu	37	chr1	70904388	70904388	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cagggcaatcatgactcatgCatcagttcttaagaatgaca	14	10	8	9	0	4	3	3	2	1	1	4	3	4	3	0	1	1	3	0	1	3	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:70904388C>T	ENST00000370938.3	+	11	1214	c.1070C>T	c.(1069-1071)gCa>gTa	p.A357V	CTH_ENST00000411986.2_Missense_Mutation_p.A325V|CTH_ENST00000346806.2_Missense_Mutation_p.A313V	NM_001902.5	NP_001893.2	Q96IQ7	VSIG2_HUMAN	cystathionine gamma-lyase	0						integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	18						ATGACTCATGCATCAGTTCTT	0.408																																						ENST00000411986.2																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	18						c.(973-975)gCa>gTa		cystathionase (cystathionine gamma-lyase)	L-Cysteine(DB00151)|Pyridoxal Phosphate(DB00114)						136	126	130					1																	70904388		2203	4300	6503	SO:0001583	missense	1491				cysteine biosynthetic process|hydrogen sulfide biosynthetic process|protein homotetramerization|protein-pyridoxal-5-phosphate linkage via peptidyl-N6-pyridoxal phosphate-L-lysine	cytoplasm|nucleus	cystathionine gamma-lyase activity|L-cysteine desulfhydrase activity|pyridoxal phosphate binding	g.chr1:70904388C>T	BC015807	CCDS650.1, CCDS651.1, CCDS53333.1	1p31.1	2014-06-24	2014-06-24		ENSG00000116761	ENSG00000116761	4.4.1.1		2501	protein-coding gene	gene with protein product		607657	"cystathionase (cystathionine gamma-lyase)"			1339280	Standard	NM_001902		Approved		uc001dfd.3	P32929	OTTHUMG00000009352	ENST00000370938.3:c.1070C>T	1.37:g.70904388C>T	ENSP00000359976:p.Ala357Val					CTH_ENST00000346806.2_Missense_Mutation_p.A313V|CTH_ENST00000370938.3_Missense_Mutation_p.A357V	p.A325V	NM_001190463.1	NP_001177392.1	P32929	CGL_HUMAN			10	1172	+			357					O95791|Q9NX42	Missense_Mutation	SNP	ENST00000370938.3	37	c.974C>T	CCDS650.1	.	.	.	.	.	.	.	.	.	.	C	11.40	1.626379	0.28978	.	.	ENSG00000116761	ENST00000411986;ENST00000370938;ENST00000346806	D;D;D	0.82984	-1.67;-1.67;-1.67	5.6	4.69	0.59074	Pyridoxal phosphate-dependent transferase, major region, subdomain 2 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.150621	0.64402	N	0.000015	T	0.80025	0.4548	M	0.82630	2.6	0.80722	D	1	B;P;B	0.36125	0.054;0.538;0.419	B;B;B	0.37387	0.174;0.248;0.081	D	0.83866	0.0271	10	0.72032	D	0.01	-22.0367	14.7142	0.69254	0.0:0.9295:0.0:0.0704	.	325;313;357	E9PDV0;P32929-2;P32929	.;.;CGL_HUMAN	V	325;357;313	ENSP00000413407:A325V;ENSP00000359976:A357V;ENSP00000311554:A313V	ENSP00000311554:A313V	A	+	2	0	CTH	70676976	0.999000	0.42202	0.073000	0.20177	0.001000	0.01503	5.539000	0.67199	1.531000	0.49152	-0.156000	0.13503	GCA		0.408	CTH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025918.1	NM_001902		25	50	0	0	0	1	0	25	50					T	70904388	C	T	70904388	3	4	435	1	0	0	0	0	1	0	0	0	4009	710	25	3	1112	3	CTH	1	70904388	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	132418	70904388	178346233	380	21305											
NEGR1	257194	broad.mit.edu	37	chr1	72400777	72400777	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cataccttgcacagttagatGcacctgcattgttctgggtg	8	13	10	10	0	1	1	0	0	1	1	1	1	1	1	2	1	4	5	2	1	2	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:72400777G>A	ENST00000357731.5	-	2	633	c.394C>T	c.(394-396)Cat>Tat	p.H132Y	NEGR1_ENST00000434200.1_Missense_Mutation_p.H130Y|NEGR1_ENST00000306821.3_Missense_Mutation_p.H4Y|NEGR1_ENST00000467479.1_5'UTR	NM_173808.2	NP_776169.2	Q7Z3B1	NEGR1_HUMAN	neuronal growth regulator 1	132	Ig-like C2-type 1.				feeding behavior (GO:0007631)|locomotory behavior (GO:0007626)|positive regulation of neuron projection development (GO:0010976)|single organismal cell-cell adhesion (GO:0016337)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)				endometrium(1)|kidney(4)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32		all_cancers(4;1.26e-06)|Renal(4;1.32e-08)|all_epithelial(4;5.39e-07)|Hepatocellular(141;0.117)		KIRC - Kidney renal clear cell carcinoma(4;0.00529)|Kidney(4;0.00609)|all cancers(265;0.022)|GBM - Glioblastoma multiforme(62;0.0382)|Epithelial(280;0.242)		ACAGTTAGATGCACCTGCATT	0.393																																						ENST00000357731.4																			0				endometrium(1)|kidney(4)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32						c.(394-396)Cat>Tat		neuronal growth regulator 1							102	92	96					1																	72400777		2203	4300	6503	SO:0001583	missense	257194				cell adhesion	anchored to membrane|plasma membrane		g.chr1:72400777G>A	AK092307	CCDS661.1	1p31.1	2013-01-11			ENSG00000172260	ENSG00000172260		"Immunoglobulin superfamily / I-set domain containing"	17302	protein-coding gene	gene with protein product	"a kindred of IgLON", "neurotractin", "IgLON family member 4"	613173				10075727	Standard	NM_173808		Approved	KILON, MGC46680, Ntra, IGLON4	uc001dfw.3	Q7Z3B1	OTTHUMG00000009698	ENST00000357731.5:c.394C>T	1.37:g.72400777G>A	ENSP00000350364:p.His132Tyr					NEGR1_ENST00000306821.3_Missense_Mutation_p.H4Y|NEGR1_ENST00000434200.1_Missense_Mutation_p.H130Y|NEGR1_ENST00000467479.1_5'UTR	p.H132Y	NM_173808.2	NP_776169.2	Q7Z3B1	NEGR1_HUMAN		KIRC - Kidney renal clear cell carcinoma(4;0.00529)|Kidney(4;0.00609)|all cancers(265;0.022)|GBM - Glioblastoma multiforme(62;0.0382)|Epithelial(280;0.242)	2	633	-		all_cancers(4;1.26e-06)|Renal(4;1.32e-08)|all_epithelial(4;5.39e-07)|Hepatocellular(141;0.117)	132			Ig-like C2-type 1.		Q5VT21|Q6UY06|Q8N440|Q8NAQ3	Missense_Mutation	SNP	ENST00000357731.5	37	c.394C>T	CCDS661.1	.	.	.	.	.	.	.	.	.	.	G	6.186	0.402513	0.11696	.	.	ENSG00000172260	ENST00000357731;ENST00000306821;ENST00000434200	T;T;T	0.66995	-0.24;1.6;-0.24	5.71	5.71	0.89125	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.104921	0.64402	D	0.000004	T	0.27384	0.0672	N	0.12920	0.275	0.45962	D	0.998787	B;B	0.10296	0.001;0.003	B;B	0.15484	0.013;0.013	T	0.17501	-1.0367	10	0.02654	T	1	-11.3048	14.0552	0.64764	0.0721:0.0:0.9279:0.0	.	130;132	B4DI94;Q7Z3B1	.;NEGR1_HUMAN	Y	132;4;130	ENSP00000350364:H132Y;ENSP00000305938:H4Y;ENSP00000413294:H130Y	ENSP00000305938:H4Y	H	-	1	0	NEGR1	72173365	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	3.798000	0.55522	2.699000	0.92147	0.655000	0.94253	CAT		0.393	NEGR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026722.4	NM_173808		17	30	0	0	0	1	0	17	30					A	72400777	G	A	72400777	3	1	435	1	0	0	0	0	1	0	0	0	10317	1319	46	3	694	3	NEGR1	1	72400777	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	1496389	72400777	176849844	381	21306											
NEGR1	257194	broad.mit.edu	37	chr1	72748149	72748149	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gccactggttcgagcaacaaGcaccctgcaccaacagcatc	12	5	8	16	1	0	0	0	0	0	0	2	1	0	0	3	1	6	5	3	1	3	1	rs375602055		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:72748149G>A	ENST00000357731.5	-	1	268	c.29C>T	c.(28-30)gCt>gTt	p.A10V	NEGR1_ENST00000434200.1_Missense_Mutation_p.A8V	NM_173808.2	NP_776169.2	Q7Z3B1	NEGR1_HUMAN	neuronal growth regulator 1	10					feeding behavior (GO:0007631)|locomotory behavior (GO:0007626)|positive regulation of neuron projection development (GO:0010976)|single organismal cell-cell adhesion (GO:0016337)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)				endometrium(1)|kidney(4)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32		all_cancers(4;1.26e-06)|Renal(4;1.32e-08)|all_epithelial(4;5.39e-07)|Hepatocellular(141;0.117)		KIRC - Kidney renal clear cell carcinoma(4;0.00529)|Kidney(4;0.00609)|all cancers(265;0.022)|GBM - Glioblastoma multiforme(62;0.0382)|Epithelial(280;0.242)		CGAGCAACAAGCACCCTGCAC	0.647																																						ENST00000357731.4																			0				endometrium(1)|kidney(4)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32						c.(28-30)gCt>gTt		neuronal growth regulator 1		G	VAL/ALA	0,4406		0,0,2203	94	74	81		29	5.2	1	1		81	1,8599	1.2+/-3.3	0,1,4299	no	missense	NEGR1	NM_173808.2	64	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	10/355	72748149	1,13005	2203	4300	6503	SO:0001583	missense	257194				cell adhesion	anchored to membrane|plasma membrane		g.chr1:72748149G>A	AK092307	CCDS661.1	1p31.1	2013-01-11			ENSG00000172260	ENSG00000172260		"Immunoglobulin superfamily / I-set domain containing"	17302	protein-coding gene	gene with protein product	"a kindred of IgLON", "neurotractin", "IgLON family member 4"	613173				10075727	Standard	NM_173808		Approved	KILON, MGC46680, Ntra, IGLON4	uc001dfw.3	Q7Z3B1	OTTHUMG00000009698	ENST00000357731.5:c.29C>T	1.37:g.72748149G>A	ENSP00000350364:p.Ala10Val					NEGR1_ENST00000434200.1_Missense_Mutation_p.A8V	p.A10V	NM_173808.2	NP_776169.2	Q7Z3B1	NEGR1_HUMAN		KIRC - Kidney renal clear cell carcinoma(4;0.00529)|Kidney(4;0.00609)|all cancers(265;0.022)|GBM - Glioblastoma multiforme(62;0.0382)|Epithelial(280;0.242)	1	268	-		all_cancers(4;1.26e-06)|Renal(4;1.32e-08)|all_epithelial(4;5.39e-07)|Hepatocellular(141;0.117)	10					Q5VT21|Q6UY06|Q8N440|Q8NAQ3	Missense_Mutation	SNP	ENST00000357731.5	37	c.29C>T	CCDS661.1	.	.	.	.	.	.	.	.	.	.	G	29.6	5.023832	0.93462	0.0	1.16E-4	ENSG00000172260	ENST00000357731;ENST00000434200	T;T	0.73047	0.56;-0.71	5.25	5.25	0.73442	.	0.000000	0.85682	D	0.000000	T	0.64929	0.2643	N	0.24115	0.695	0.47441	D	0.99942	D;B	0.57571	0.98;0.384	P;B	0.59288	0.855;0.112	T	0.68443	-0.5407	10	0.46703	T	0.11	-8.2059	16.3288	0.82997	0.0:0.0:1.0:0.0	.	8;10	B4DI94;Q7Z3B1	.;NEGR1_HUMAN	V	10;8	ENSP00000350364:A10V;ENSP00000413294:A8V	ENSP00000350364:A10V	A	-	2	0	NEGR1	72520737	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.523000	0.73787	2.457000	0.83068	0.561000	0.74099	GCT		0.647	NEGR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026722.4	NM_173808		8	14	0	0	0	1	0	8	14					A	72748149	G	A	72748149	3	1	435	1	0	0	0	0	1	0	0	0	10317	971	34	3	1063	3	NEGR1	1	72748149	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	347372	72748149	176502472	382	21307											
LRRIQ3	127255	broad.mit.edu	37	chr1	74648336	74648336	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gaaatcacatgatgatccagCgctttgagaggccatatact	13	10	9	9	1	1	3	1	3	0	1	2	5	2	3	2	1	2	1	2	1	3	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:74648336C>T	ENST00000395089.1	-	2	458	c.459G>A	c.(457-459)gcG>gcA	p.A153A	LRRIQ3_ENST00000370911.3_Silent_p.A153A|LRRIQ3_ENST00000370909.2_Intron|LRRIQ3_ENST00000354431.4_Silent_p.A153A			A6PVS8	LRIQ3_HUMAN	leucine-rich repeats and IQ motif containing 3	153	LRRCT.									NS(2)|breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(13)|liver(1)|lung(27)|ovary(3)|prostate(1)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(5)	73						GATGATCCAGCGCTTTGAGAG	0.388																																						ENST00000354431.4																			0				NS(2)|breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(13)|liver(1)|lung(27)|ovary(3)|prostate(1)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(5)	73						c.(457-459)gcG>gcA		leucine-rich repeats and IQ motif containing 3							110	107	108					1																	74648336		2203	4300	6503	SO:0001819	synonymous_variant	127255							g.chr1:74648336C>T	BX647210	CCDS41350.1	1p31.1	2008-06-12	2008-06-12	2008-06-12	ENSG00000162620	ENSG00000162620			28318	protein-coding gene	gene with protein product			"leucine rich repeat containing 44"	LRRC44		12477932	Standard	NM_001105659		Approved	MGC22773	uc001dfy.4	A6PVS8	OTTHUMG00000009508	ENST00000395089.1:c.459G>A	1.37:g.74648336C>T						LRRIQ3_ENST00000395089.1_Silent_p.A153A|LRRIQ3_ENST00000370911.3_Silent_p.A153A|LRRIQ3_ENST00000370909.2_Intron	p.A153A	NM_001105659.1	NP_001099129.1	A6PVS8	LRIQ3_HUMAN			3	650	-			153			LRRCT.		A6PVS9|Q6P5P7|Q6ZMV4|Q8WUE0	Silent	SNP	ENST00000395089.1	37	c.459G>A	CCDS41350.1																																																																																				0.388	LRRIQ3-008	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316539.1	NM_145258		21	34	0	0	0	1	0	21	34					T	74648336	C	T	74648336	2	4	435	1	0	0	0	0	0	0	0	1	9030	755	27	1		1	LRRIQ3	1	74648336	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	1900187	74648336	174602285	383	21308											
LRRIQ3	127255	broad.mit.edu	37	chr1	74648511	74648511	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gtagttttaggttcttcaatCcattccaaaatttggtattt	10	19	6	6	0	2	0	1	0	1	0	4	0	4	0	2	2	0	4	2	2	6	9			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:74648511C>T	ENST00000395089.1	-	2	283	c.284G>A	c.(283-285)gGa>gAa	p.G95E	LRRIQ3_ENST00000370911.3_Missense_Mutation_p.G95E|LRRIQ3_ENST00000370909.2_Intron|LRRIQ3_ENST00000354431.4_Missense_Mutation_p.G95E			A6PVS8	LRIQ3_HUMAN	leucine-rich repeats and IQ motif containing 3	95										NS(2)|breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(13)|liver(1)|lung(27)|ovary(3)|prostate(1)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(5)	73						GTTCTTCAATCCATTCCAAAA	0.308																																						ENST00000354431.4																			0				NS(2)|breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(13)|liver(1)|lung(27)|ovary(3)|prostate(1)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(5)	73						c.(283-285)gGa>gAa		leucine-rich repeats and IQ motif containing 3							51	51	51					1																	74648511		2203	4298	6501	SO:0001583	missense	127255							g.chr1:74648511C>T	BX647210	CCDS41350.1	1p31.1	2008-06-12	2008-06-12	2008-06-12	ENSG00000162620	ENSG00000162620			28318	protein-coding gene	gene with protein product			"leucine rich repeat containing 44"	LRRC44		12477932	Standard	NM_001105659		Approved	MGC22773	uc001dfy.4	A6PVS8	OTTHUMG00000009508	ENST00000395089.1:c.284G>A	1.37:g.74648511C>T	ENSP00000378524:p.Gly95Glu					LRRIQ3_ENST00000395089.1_Missense_Mutation_p.G95E|LRRIQ3_ENST00000370911.3_Missense_Mutation_p.G95E|LRRIQ3_ENST00000370909.2_Intron	p.G95E	NM_001105659.1	NP_001099129.1	A6PVS8	LRIQ3_HUMAN			3	475	-			95					A6PVS9|Q6P5P7|Q6ZMV4|Q8WUE0	Missense_Mutation	SNP	ENST00000395089.1	37	c.284G>A	CCDS41350.1	.	.	.	.	.	.	.	.	.	.	C	14.27	2.485080	0.44147	.	.	ENSG00000162620	ENST00000395089;ENST00000354431;ENST00000388972;ENST00000370911	T;T;T	0.10005	2.92;2.92;2.92	5.66	4.56	0.56223	.	0.371283	0.26045	N	0.026677	T	0.02970	0.0088	N	0.20401	0.57	0.28617	N	0.908369	P	0.35944	0.529	B	0.38921	0.285	T	0.32824	-0.9892	10	0.42905	T	0.14	.	7.5976	0.28056	0.0:0.7753:0.0:0.2247	.	95	A6PVS8	LRIQ3_HUMAN	E	95	ENSP00000378524:G95E;ENSP00000346414:G95E;ENSP00000359948:G95E	ENSP00000346414:G95E	G	-	2	0	LRRIQ3	74421099	0.653000	0.27358	0.999000	0.59377	0.994000	0.84299	0.416000	0.21198	2.658000	0.90341	0.655000	0.94253	GGA		0.308	LRRIQ3-008	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316539.1	NM_145258		8	44	0	0	0	1	0	8	44					T	74648511	C	T	74648511	3	4	435	1	0	0	0	0	1	0	0	0	9030	855	30	3	1614	3	LRRIQ3	1	74648511	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	175	74648511	174602110	384	21309											
FPGT	8790	broad.mit.edu	37	chr1	74670868	74670868	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aacagtttaaagtcagagctCggcttacagtccataacttt	13	12	7	9	1	1	1	1	0	0	1	3	1	2	1	1	1	4	3	1	1	5	5	rs41289176		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:74670868C>T	ENST00000609362.1	+	4	1174	c.1137C>T	c.(1135-1137)ctC>ctT	p.L379L	FPGT_ENST00000534056.1_Intron|FPGT_ENST00000370898.3_Silent_p.L392L|FPGT_ENST00000370894.5_Intron|FPGT_ENST00000524915.1_Intron|FPGT-TNNI3K_ENST00000557284.2_Intron|FPGT-TNNI3K_ENST00000533006.1_Intron|TNNI3K_ENST00000370891.2_Intron|FPGT-TNNI3K_ENST00000370895.1_Intron|FPGT-TNNI3K_ENST00000370893.1_Intron|FPGT-TNNI3K_ENST00000370899.3_Intron	NM_003838.4	NP_003829.3	O14772	FPGT_HUMAN	fucose-1-phosphate guanylyltransferase	379					fucose metabolic process (GO:0006004)	cytoplasm (GO:0005737)	catalytic activity (GO:0003824)|fucose-1-phosphate guanylyltransferase activity (GO:0047341)|GTP binding (GO:0005525)			breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(18)|ovary(1)|prostate(4)|skin(1)|urinary_tract(1)	39						AGTCAGAGCTCGGCTTACAGT	0.338																																						ENST00000370898.2																			0				breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(18)|ovary(1)|prostate(4)|skin(1)|urinary_tract(1)	39						c.(1135-1137)ctC>ctT		fucose-1-phosphate guanylyltransferase							57	59	58					1																	74670868		2203	4300	6503	SO:0001819	synonymous_variant	8790							g.chr1:74670868C>T	AF017445	CCDS663.1, CCDS663.2	1p31.1	2013-09-24			ENSG00000254685	ENSG00000254685	2.7.7.30		3825	protein-coding gene	gene with protein product		603609				9804772	Standard	NM_003838		Approved	GFPP		O14772	OTTHUMG00000009571	ENST00000609362.1:c.1137C>T	1.37:g.74670868C>T						FPGT_ENST00000524915.1_Intron|TNNI3K_ENST00000370891.2_Intron|FPGT-TNNI3K_ENST00000370895.1_Intron|FPGT_ENST00000370894.4_Intron|TNNI3K_ENST00000370893.1_Intron|FPGT_ENST00000534056.1_Intron|FPGT-TNNI3K_ENST00000370899.3_Intron|FPGT-TNNI3K_ENST00000557284.1_Intron	p.L379L	NM_001199328.1|NM_003838.3	NP_001186257.1|NP_003829.2					4	1174	+								A6NMH3|B4DRX2|B4E2Y7|E9PNQ2|Q8N5J7	Silent	SNP	ENST00000609362.1	37	c.1137C>T	CCDS663.1																																																																																				0.338	FPGT-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				27	40	0	0	0	1	0	27	40					T	74670868	C	T	74670868	2	4	435	1	0	0	0	0	0	0	0	1	6037	871	31	2		2	FPGT	1	74670868	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	22357	74670868	174579753	385	21310											
TNNI3K	100526835	broad.mit.edu	37	chr1	74819813	74819813	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgatgtgggcttatgaaaaaGgtatatttttaatcatcgtg	12	16	10	3	1	1	2	1	2	0	0	2	2	1	2	0	2	0	2	0	2	6	6			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:74819813G>T	ENST00000370899.3	+	13	1517	c.1480G>T	c.(1480-1482)Ggg>Tgg	p.G494W	RP11-439H8.4_ENST00000415549.2_RNA|FPGT-TNNI3K_ENST00000557284.2_Splice_Site_p.G507W|TNNI3K_ENST00000370891.2_Splice_Site_p.G494W|TNNI3K_ENST00000326637.3_Splice_Site_p.G393W|FPGT-TNNI3K_ENST00000370895.1_Splice_Site_p.G494W	NM_001199327.1	NP_001186256			FPGT-TNNI3K readthrough																		TTATGAAAAAGGTATATTTTT	0.378																																						ENST00000370895.1																			0											c.e13+1									123	120	121					1																	74819813		2203	4300	6503	SO:0001630	splice_region_variant	0					cytoplasm|nucleus	ATP binding|metal ion binding|protein C-terminus binding|protein serine/threonine kinase activity|troponin I binding	g.chr1:74819813G>T			1p31.3	2014-03-14			ENSG00000259030	ENSG00000259030			42952	other	readthrough							Standard	NM_001112808		Approved		uc001dge.2		OTTHUMG00000166281	ENST00000370899.3:c.1480+1G>T	1.37:g.74819813G>T						TNNI3K_ENST00000370891.2_Splice_Site_p.G494_splice|RP11-439H8.4_ENST00000415549.2_RNA|FPGT-TNNI3K_ENST00000370899.3_Splice_Site_p.G494_splice|FPGT-TNNI3K_ENST00000557284.1_Splice_Site_p.G494_splice|TNNI3K_ENST00000326637.3_Splice_Site_p.G393_splice	p.G494_splice			Q59H18	TNI3K_HUMAN			13	1515	+			393			Protein kinase.			Splice_Site	SNP	ENST00000370899.3	37	c.1480_splice		.	.	.	.	.	.	.	.	.	.	G	24.2	4.500450	0.85176	.	.	ENSG00000259030;ENSG00000259030;ENSG00000259030;ENSG00000116783;ENSG00000116783	ENST00000370899;ENST00000370895;ENST00000557284;ENST00000370891;ENST00000326637	T;T;T;T;T	0.28454	1.61;1.61;1.61;1.61;1.61	5.12	5.12	0.69794	Ankyrin repeat-containing domain (4);	0.000000	0.85682	D	0.000000	T	0.63920	0.2552	H	0.94423	3.535	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	T	0.75051	-0.3454	10	0.87932	D	0	.	18.7504	0.91812	0.0:0.0:1.0:0.0	.	393;494;494;494	Q59H18;Q59H18-1;Q59H18-4;Q59H18-3	TNI3K_HUMAN;.;.;.	W	494;494;494;494;393	ENSP00000359936:G494W;ENSP00000359932:G494W;ENSP00000450895:G494W;ENSP00000359928:G494W;ENSP00000322251:G393W	ENSP00000322251:G393W	G	+	1	0	RP11-653A5.2;AC093158.1	74592401	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	9.202000	0.95026	2.658000	0.90341	0.655000	0.94253	GGG		0.378	FPGT-TNNI3K-003	NOVEL	basic|appris_candidate|readthrough_transcript|exp_conf	protein_coding	protein_coding	OTTHUMT00000026438.3		Missense_Mutation	13	65	1	0	1.5739e-10	1	1.6844e-10	13	65					T	74819813	G	T	74819813	5	4	435	1	0	0	0	0	0	0	1	0	16326	1014	35	5	1574	5	TNNI3K	1	74819813	Splice_Site	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	148945	74819813	174430808	386	21311											
C1orf173	127254	broad.mit.edu	37	chr1	75036839	75036839	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gggggaaacatctgcagtctCgctttctccttgcaccatat	8	12	9	12	1	3	0	0	0	3	0	5	1	3	1	2	2	3	3	2	2	2	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:75036839C>T	ENST00000326665.5	-	14	4773	c.4555G>A	c.(4555-4557)Gag>Aag	p.E1519K	C1orf173_ENST00000433746.2_5'UTR	NM_001002912.4	NP_001002912.4	Q5RHP9	ERIC3_HUMAN		1519										NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						TCTGCAGTCTCGCTTTCTCCT	0.493																																						ENST00000326665.5																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						c.(4555-4557)Gag>Aag		chromosome 1 open reading frame 173							183	179	180					1																	75036839		2203	4300	6503	SO:0001583	missense	127254							g.chr1:75036839C>T																												ENST00000326665.5:c.4555G>A	1.37:g.75036839C>T	ENSP00000322609:p.Glu1519Lys					C1orf173_ENST00000433746.2_5'UTR	p.E1519K	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN			14	4773	-			1519					Q68DL8|Q6GMR8|Q6ZSF9|Q8ND41	Missense_Mutation	SNP	ENST00000326665.5	37	c.4555G>A	CCDS30755.1	.	.	.	.	.	.	.	.	.	.	C	16.51	3.142889	0.57044	.	.	ENSG00000178965	ENST00000326665	T	0.19250	2.16	5.08	4.15	0.48705	.	.	.	.	.	T	0.05090	0.0136	N	0.19112	0.55	0.19575	N	0.999963	B	0.27117	0.168	B	0.23716	0.048	T	0.31364	-0.9946	9	0.59425	D	0.04	-2.1744	8.241	0.31660	0.0:0.8151:0.0:0.1849	.	1519	Q5RHP9	CA173_HUMAN	K	1519	ENSP00000322609:E1519K	ENSP00000322609:E1519K	E	-	1	0	C1orf173	74809427	0.001000	0.12720	0.004000	0.12327	0.006000	0.05464	0.709000	0.25734	1.097000	0.41459	0.561000	0.74099	GAG		0.493	C1orf173-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026516.1			6	114	0	0	0	1	0	6	114					T	75036839	C	T	75036839	3	4	435	1	0	0	0	0	1	0	0	0	2014	893	31	2	41	2	C1orf173	1	75036839	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	217026	75036839	174213782	387	21312											
C1orf173	127254	broad.mit.edu	37	chr1	75037218	75037218	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gctgctgtttttcctactaaCtcatcctgttggtgccaggt	5	16	9	11	0	1	0	1	0	0	0	3	0	3	0	3	2	4	4	3	2	2	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:75037218C>T	ENST00000326665.5	-	14	4394	c.4176G>A	c.(4174-4176)gaG>gaA	p.E1392E	C1orf173_ENST00000433746.2_5'UTR	NM_001002912.4	NP_001002912.4	Q5RHP9	ERIC3_HUMAN		1392	Glu-rich.									NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						TTCCTACTAACTCATCCTGTT	0.498																																						ENST00000326665.5																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						c.(4174-4176)gaG>gaA		chromosome 1 open reading frame 173							100	97	98					1																	75037218		2203	4300	6503	SO:0001819	synonymous_variant	127254							g.chr1:75037218C>T																												ENST00000326665.5:c.4176G>A	1.37:g.75037218C>T						C1orf173_ENST00000433746.2_5'UTR	p.E1392E	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN			14	4394	-			1392			Glu-rich.		Q68DL8|Q6GMR8|Q6ZSF9|Q8ND41	Silent	SNP	ENST00000326665.5	37	c.4176G>A	CCDS30755.1																																																																																				0.498	C1orf173-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026516.1			26	47	0	0	0	1	0	26	47					T	75037218	C	T	75037218	2	4	435	1	0	0	0	0	0	0	0	1	2014	564	20	3		3	C1orf173	1	75037218	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	379	75037218	174213403	388	21313											
C1orf173	127254	broad.mit.edu	37	chr1	75102123	75102123	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtatatggtcgaggggctgtCtagacaattaggggaaaaaa	14	9	14	4	1	1	1	0	0	1	1	2	3	1	2	0	5	0	2	0	5	8	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:75102123C>T	ENST00000326665.5	-	6	663		c.e6-1		C1orf173_ENST00000420661.2_5'Flank	NM_001002912.4	NP_001002912.4	Q5RHP9	ERIC3_HUMAN												NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						GAGGGGCTGTCTAGACAATTA	0.393																																						ENST00000326665.5																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						c.e6-1		chromosome 1 open reading frame 173							161	170	167					1																	75102123		2203	4300	6503	SO:0001630	splice_region_variant	127254							g.chr1:75102123C>T																												ENST00000326665.5:c.445-1G>A	1.37:g.75102123C>T								NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN			6	663	-								Q68DL8|Q6GMR8|Q6ZSF9|Q8ND41	Splice_Site	SNP	ENST00000326665.5	37		CCDS30755.1	.	.	.	.	.	.	.	.	.	.	C	18.50	3.637383	0.67130	.	.	ENSG00000178965	ENST00000326665	.	.	.	5.35	5.35	0.76521	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.2066	0.89857	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	C1orf173	74874711	1.000000	0.71417	1.000000	0.80357	0.846000	0.48090	3.632000	0.54287	2.661000	0.90470	0.557000	0.71058	.		0.393	C1orf173-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026516.1		Intron	55	100	0	0	0	1	0	55	100					T	75102123	C	T	75102123	5	4	435	1	0	0	0	0	0	0	1	0	2014	927	32	3	4184	3	C1orf173	1	75102123	Splice_Site	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	64905	75102123	174148498	389	21314											
SLC44A5	204962	broad.mit.edu	37	chr1	75683619	75683619	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ttaatgcaataattaaagatCcaaatgctagggatcctgtg	15	12	8	6	0	0	1	0	0	0	1	2	2	2	2	2	1	2	2	2	1	7	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:75683619C>T	ENST00000370855.5	-	18	1669	c.1556G>A	c.(1555-1557)gGa>gAa	p.G519E	SLC44A5_ENST00000370859.3_Missense_Mutation_p.G519E|SLC44A5_ENST00000535611.1_Missense_Mutation_p.G389E	NM_152697.4	NP_689910.2	Q8NCS7	CTL5_HUMAN	solute carrier family 44, member 5	519					glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				kidney(1)|large_intestine(13)|lung(35)|ovary(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						AATTAAAGATCCAAATGCTAG	0.294																																						ENST00000370855.5																			0				kidney(1)|large_intestine(13)|lung(35)|ovary(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						c.(1555-1557)gGa>gAa		solute carrier family 44, member 5							51	55	54					1																	75683619		2203	4299	6502	SO:0001583	missense	204962					integral to membrane|plasma membrane	choline transmembrane transporter activity	g.chr1:75683619C>T	BC034580	CCDS667.1, CCDS44164.1	1p31.1	2013-05-22			ENSG00000137968	ENSG00000137968		"Solute carriers"	28524	protein-coding gene	gene with protein product						15715662	Standard	NM_152697		Approved	MGC34032, CTL5	uc001dgu.3	Q8NCS7	OTTHUMG00000009721	ENST00000370855.5:c.1556G>A	1.37:g.75683619C>T	ENSP00000359892:p.Gly519Glu					SLC44A5_ENST00000370859.3_Missense_Mutation_p.G519E|SLC44A5_ENST00000535611.1_Missense_Mutation_p.G389E	p.G519E	NM_152697.4	NP_689910.2	Q8NCS7	CTL5_HUMAN			18	1669	-			519					B5MCU3|Q4G0K0|Q8NA44|Q8NB86	Missense_Mutation	SNP	ENST00000370855.5	37	c.1556G>A	CCDS667.1	.	.	.	.	.	.	.	.	.	.	C	31	5.088596	0.94100	.	.	ENSG00000137968	ENST00000370859;ENST00000536707;ENST00000370855;ENST00000535611;ENST00000535790	T;T;T	0.66815	-0.23;-0.23;-0.23	5.93	5.93	0.95920	.	0.103781	0.64402	D	0.000003	D	0.87136	0.6102	H	0.95224	3.64	0.80722	D	1	D;D;D;D;D	0.89917	0.999;1.0;0.999;0.999;1.0	D;D;D;D;D	0.87578	0.992;0.998;0.997;0.994;0.997	D	0.89764	0.3949	10	0.87932	D	0	-14.6266	20.3261	0.98701	0.0:1.0:0.0:0.0	.	513;558;519;519;558	B7Z5Y4;B7Z470;Q8NCS7;Q8NCS7-2;F5GYS0	.;.;CTL5_HUMAN;.;.	E	519;558;519;389;512	ENSP00000359896:G519E;ENSP00000359892:G519E;ENSP00000443090:G389E	ENSP00000359892:G519E	G	-	2	0	SLC44A5	75456207	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	7.461000	0.80834	2.814000	0.96858	0.655000	0.94253	GGA		0.294	SLC44A5-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000026921.1	NM_152697		23	33	0	0	0	1	0	23	33					T	75683619	C	T	75683619	3	4	435	1	0	0	0	0	1	0	0	0	14639	855	30	3	742	3	SLC44A5	1	75683619	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	581496	75683619	173567002	390	21315											
MSH4	4438	broad.mit.edu	37	chr1	76288159	76288159	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tggagggagtagacgacttcGttctaatatattagagcctc	11	12	11	7	2	1	2	0	0	1	2	3	5	1	4	1	2	1	2	1	2	5	7			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:76288159G>A	ENST00000263187.3	+	7	1159	c.1055G>A	c.(1054-1056)cGt>cAt	p.R352H		NM_002440.3	NP_002431.2	O15457	MSH4_HUMAN	mutS homolog 4	352					ATP catabolic process (GO:0006200)|chiasma assembly (GO:0051026)|female gamete generation (GO:0007292)|homologous chromosome segregation (GO:0045143)|mismatch repair (GO:0006298)|ovarian follicle development (GO:0001541)|reciprocal meiotic recombination (GO:0007131)|spermatogenesis (GO:0007283)	nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|mismatched DNA binding (GO:0030983)			breast(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	47						AGACGACTTCGTTCTAATATA	0.333								Mismatch excision repair (MMR)																														ENST00000263187.3																			0				breast(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	47						c.(1054-1056)cGt>cAt	Mismatch excision repair (MMR)	mutS homolog 4							90	91	91					1																	76288159		2202	4294	6496	SO:0001583	missense	4438				chiasma assembly|homologous chromosome segregation|mismatch repair|reciprocal meiotic recombination	synaptonemal complex	ATP binding|DNA-dependent ATPase activity|mismatched DNA binding	g.chr1:76288159G>A	U89293	CCDS670.1	1p31	2013-09-12	2013-09-12		ENSG00000057468	ENSG00000057468			7327	protein-coding gene	gene with protein product		602105	"mutS (E. coli) homolog 4", "mutS homolog 4 (E. coli)"			9299235	Standard	NM_002440		Approved		uc001dhd.2	O15457	OTTHUMG00000009788	ENST00000263187.3:c.1055G>A	1.37:g.76288159G>A	ENSP00000263187:p.Arg352His						p.R352H	NM_002440.3	NP_002431.2	O15457	MSH4_HUMAN			7	1159	+			352					Q5T4U6|Q8NEB3|Q9UNP8	Missense_Mutation	SNP	ENST00000263187.3	37	c.1055G>A	CCDS670.1	.	.	.	.	.	.	.	.	.	.	G	33	5.274229	0.95459	.	.	ENSG00000057468	ENST00000263187	D	0.93019	-3.15	5.84	5.84	0.93424	DNA mismatch repair protein MutS, core (3);	0.000000	0.85682	D	0.000000	D	0.96947	0.9003	M	0.83692	2.655	0.58432	D	0.999994	D	0.89917	1.0	D	0.97110	1.0	D	0.96872	0.9640	10	0.87932	D	0	-9.6787	20.1535	0.98095	0.0:0.0:1.0:0.0	.	352	O15457	MSH4_HUMAN	H	352	ENSP00000263187:R352H	ENSP00000263187:R352H	R	+	2	0	MSH4	76060747	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.476000	0.97823	2.764000	0.94973	0.650000	0.86243	CGT		0.333	MSH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026983.1	NM_002440		43	74	0	0	0	1	0	43	74					A	76288159	G	A	76288159	3	1	435	1	0	0	0	0	1	0	0	0	9872	1145	40	1	1081	1	MSH4	1	76288159	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	604540	76288159	172962462	391	21316											
ASB17	127247	broad.mit.edu	37	chr1	76397784	76397784	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aatgtaatctgtgagtagtgCgtcaaaaccatccaagtcca	14	10	8	9	1	2	1	1	1	1	0	4	1	4	1	3	0	2	2	3	0	6	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:76397784C>T	ENST00000284142.6	-	1	332	c.193G>A	c.(193-195)Gca>Aca	p.A65T		NM_080868.2	NP_543144.1	Q8WXJ9	ASB17_HUMAN	ankyrin repeat and SOCS box containing 17	65					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)					breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(11)|ovary(2)|urinary_tract(1)	21						GTGAGTAGTGCGTCAAAACCA	0.388																																						ENST00000284142.6																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(11)|ovary(2)|urinary_tract(1)	21						c.(193-195)Gca>Aca		ankyrin repeat and SOCS box containing 17							152	139	144					1																	76397784		2203	4300	6503	SO:0001583	missense	127247				intracellular signal transduction			g.chr1:76397784C>T	AF403035	CCDS671.1	1p22.3	2013-01-11	2011-01-25		ENSG00000154007	ENSG00000154007		"Ankyrin repeat domain containing"	19769	protein-coding gene	gene with protein product			"ankyrin repeat and SOCS box-containing 17"			12076535	Standard	NM_080868		Approved		uc001dhe.2	Q8WXJ9	OTTHUMG00000009787	ENST00000284142.6:c.193G>A	1.37:g.76397784C>T	ENSP00000284142:p.Ala65Thr						p.A65T	NM_080868.2	NP_543144.1	Q8WXJ9	ASB17_HUMAN			1	332	-			65					B1APB8|Q8N0X5	Missense_Mutation	SNP	ENST00000284142.6	37	c.193G>A	CCDS671.1	.	.	.	.	.	.	.	.	.	.	C	10.74	1.435017	0.25813	.	.	ENSG00000154007	ENST00000284142	T	0.30714	1.52	6.08	-5.66	0.02451	.	1.248040	0.05458	N	0.550632	T	0.03739	0.0106	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.33979	-0.9847	10	0.26408	T	0.33	.	4.8908	0.13726	0.4931:0.3088:0.0:0.1981	.	65	Q8WXJ9	ASB17_HUMAN	T	65	ENSP00000284142:A65T	ENSP00000284142:A65T	A	-	1	0	ASB17	76170372	0.009000	0.17119	0.399000	0.26333	0.015000	0.08874	-1.811000	0.01728	-0.476000	0.06842	-1.251000	0.01509	GCA		0.388	ASB17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026982.1	NM_080868		29	35	0	0	0	1	0	29	35					T	76397784	C	T	76397784	3	4	435	1	0	0	0	0	1	0	0	0	1021	768	27	1	706	1	ASB17	1	76397784	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	109625	76397784	172852837	392	21317											
ST6GALNAC3	256435	broad.mit.edu	37	chr1	77094429	77094429	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttatcactgaaaagaaagtgTttgctaaatgggccaagaag	16	10	10	5	0	1	3	1	1	0	2	1	3	1	3	1	1	1	2	1	1	8	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:77094429T>C	ENST00000328299.3	+	5	1004	c.856T>C	c.(856-858)Ttt>Ctt	p.F286L		NM_152996.2	NP_694541.2	Q8NDV1	SIA7C_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 3	286					glycoprotein metabolic process (GO:0009100)|glycosphingolipid metabolic process (GO:0006687)|glycosylceramide metabolic process (GO:0006677)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	sialyltransferase activity (GO:0008373)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|ovary(3)|prostate(1)|skin(2)	36						AAAGAAAGTGTTTGCTAAATG	0.378																																						ENST00000328299.3																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|ovary(3)|prostate(1)|skin(2)	36						c.(856-858)Ttt>Ctt		ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 3							171	173	173					1																	77094429		2203	4299	6502	SO:0001583	missense	256435				protein glycosylation	integral to Golgi membrane	sialyltransferase activity	g.chr1:77094429T>C		CCDS672.1	1p31.1	2013-03-01	2005-02-07	2005-02-07	ENSG00000184005	ENSG00000184005		"Sialyltransferases"	19343	protein-coding gene	gene with protein product	"ST6GALNAC III"	610133	"sialyltransferase 7 ((alpha-N-acetylneuraminyl-2,3-beta-galactosyl-1,3)-N-acetyl galactosaminide alpha-2,6-sialyltransferase) C"	SIAT7C			Standard	NM_152996		Approved		uc001dhh.2	Q8NDV1	OTTHUMG00000009615	ENST00000328299.3:c.856T>C	1.37:g.77094429T>C	ENSP00000329214:p.Phe286Leu						p.F286L	NM_152996.2	NP_694541.2	Q8NDV1	SIA7C_HUMAN			5	1004	+			286					Q6PCE0|Q6UX29|Q8N259	Missense_Mutation	SNP	ENST00000328299.3	37	c.856T>C	CCDS672.1	.	.	.	.	.	.	.	.	.	.	t	22.6	4.312910	0.81358	.	.	ENSG00000184005	ENST00000328299;ENST00000394993;ENST00000415813	T	0.24723	1.84	5.43	5.43	0.79202	.	0.000000	0.85682	D	0.000000	T	0.48205	0.1487	M	0.86502	2.82	0.54753	D	0.999986	D;D	0.89917	0.99;1.0	P;D	0.83275	0.883;0.996	T	0.53070	-0.8490	10	0.40728	T	0.16	-38.5572	15.8061	0.78513	0.0:0.0:0.0:1.0	.	185;286	B4DM98;Q8NDV1	.;SIA7C_HUMAN	L	286;285;184	ENSP00000329214:F286L	ENSP00000329214:F286L	F	+	1	0	ST6GALNAC3	76867017	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.637000	0.83313	2.191000	0.70037	0.524000	0.50904	TTT		0.378	ST6GALNAC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026501.1	NM_152996		4	76	0	0	0	1	0	4	76					C	77094429	T	C	77094429	3	2	435	1	0	0	0	0	1	0	0	0	15224	1725	60	4	888	4	ST6GALNAC3	1	77094429	Missense_Mutation	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	696645	77094429	172156192	393	21318											
PIGK	10026	broad.mit.edu	37	chr1	77620137	77620137	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tggtttaagatgaatacctgCtttccatgatttctgaatcc	10	16	7	8	0	1	4	0	3	1	1	3	4	3	4	3	1	2	2	3	1	4	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:77620137C>T	ENST00000370812.3	-	9	1006	c.983G>A	c.(982-984)aGc>aAc	p.S328N	PIGK_ENST00000478391.1_5'Flank|PIGK_ENST00000370813.5_Missense_Mutation_p.S252N|PIGK_ENST00000359130.1_Missense_Mutation_p.S328N|PIGK_ENST00000445065.1_Missense_Mutation_p.S234N	NM_005482.2	NP_005473.1	Q92643	GPI8_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class K	328					attachment of GPI anchor to protein (GO:0016255)|C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)	endoplasmic reticulum membrane (GO:0005789)|GPI-anchor transamidase complex (GO:0042765)|integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)	cysteine-type endopeptidase activity (GO:0004197)|GPI-anchor transamidase activity (GO:0003923)|protein disulfide isomerase activity (GO:0003756)			endometrium(5)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	19						TGAATACCTGCTTTCCATGAT	0.313																																						ENST00000370812.3																			0				endometrium(5)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	19						c.(982-984)aGc>aAc		phosphatidylinositol glycan anchor biosynthesis, class K							118	109	112					1																	77620137		2203	4300	6503	SO:0001583	missense	10026				attachment of GPI anchor to protein|C-terminal protein lipidation|protein thiol-disulfide exchange|proteolysis	GPI-anchor transamidase complex	cysteine-type endopeptidase activity|GPI-anchor transamidase activity|protein binding	g.chr1:77620137C>T	AF022913	CCDS674.1	1p31.1	2013-02-26	2006-06-28		ENSG00000142892	ENSG00000142892		"Phosphatidylinositol glycan anchor biosynthesis"	8965	protein-coding gene	gene with protein product	"GPI transamidase subunit"	605087	"phosphatidylinositol glycan, class K"			9356492	Standard	NM_005482		Approved	hGPI8, GPI8	uc001dhk.3	Q92643	OTTHUMG00000009686	ENST00000370812.3:c.983G>A	1.37:g.77620137C>T	ENSP00000359848:p.Ser328Asn					PIGK_ENST00000370813.5_Missense_Mutation_p.S252N|PIGK_ENST00000445065.1_Missense_Mutation_p.S234N|PIGK_ENST00000359130.1_Missense_Mutation_p.S328N	p.S328N	NM_005482.2	NP_005473.1	Q92643	GPI8_HUMAN			9	1006	-			328					B2R7K3|B4E2M3|O14822|Q5TG77	Missense_Mutation	SNP	ENST00000370812.3	37	c.983G>A	CCDS674.1	.	.	.	.	.	.	.	.	.	.	C	9.044	0.990415	0.18966	.	.	ENSG00000142892	ENST00000370812;ENST00000445065;ENST00000370813;ENST00000359130	T;T;T;T	0.45276	0.9;0.9;0.9;0.93	4.95	0.19	0.15125	.	0.504141	0.23594	N	0.046516	T	0.09335	0.0230	N	0.24115	0.695	0.39489	D	0.968012	B;B;B;B	0.29590	0.029;0.064;0.25;0.013	B;B;B;B	0.19391	0.008;0.013;0.025;0.011	T	0.07501	-1.0769	10	0.45353	T	0.12	-26.2977	3.9008	0.09161	0.2471:0.3639:0.0:0.389	.	252;234;328;328	B4E2M3;B1AK81;A6NEM5;Q92643	.;.;.;GPI8_HUMAN	N	328;234;252;328	ENSP00000359848:S328N;ENSP00000388854:S234N;ENSP00000359849:S252N;ENSP00000352041:S328N	ENSP00000352041:S328N	S	-	2	0	PIGK	77392725	0.144000	0.22641	0.998000	0.56505	0.347000	0.29111	-0.129000	0.10515	0.172000	0.19760	-0.142000	0.14014	AGC		0.313	PIGK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026687.1	NM_005482		4	20	0	0	0	1	0	4	20					T	77620137	C	T	77620137	3	4	435	1	0	0	0	0	1	0	0	0	11890	797	28	3	216	3	PIGK	1	77620137	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	525708	77620137	171630484	394	21319											
ZZZ3	26009	broad.mit.edu	37	chr1	78098877	78098877	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttctgaattggcacaggctCtggtctcttctttggtgatc	5	17	10	9	0	4	2	0	2	4	0	6	2	4	2	0	4	0	2	0	4	1	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:78098877C>A	ENST00000370801.3	-	5	638	c.163G>T	c.(163-165)Gag>Tag	p.E55*	ZZZ3_ENST00000476275.1_5'Flank|ZZZ3_ENST00000370798.1_Intron	NM_015534.4	NP_056349.1	Q8IYH5	ZZZ3_HUMAN	zinc finger, ZZ-type containing 3	55					chromatin organization (GO:0006325)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|stomach(1)|urinary_tract(2)	39						GGCACAGGCTCTGGTCTCTTC	0.408																																						ENST00000370801.3																			0				breast(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|stomach(1)|urinary_tract(2)	39						c.(163-165)Gag>Tag		zinc finger, ZZ-type containing 3							164	172	169					1																	78098877		2202	4300	6502	SO:0001587	stop_gained	26009				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:78098877C>A	AL080063	CCDS677.1	1p31.1	2012-08-13			ENSG00000036549	ENSG00000036549		"Zinc fingers, ZZ-type"	24523	protein-coding gene	gene with protein product	"ATAC component 1 homolog (Drosophila)"					16428443, 21304275	Standard	NM_015534		Approved	DKFZP564I052, ATAC1	uc001dhq.3	Q8IYH5	OTTHUMG00000009652	ENST00000370801.3:c.163G>T	1.37:g.78098877C>A	ENSP00000359837:p.Glu55*					ZZZ3_ENST00000370798.1_Intron	p.E55*	NM_015534.4	NP_056349.1	Q8IYH5	ZZZ3_HUMAN			5	638	-			55					B7WPC6|Q6N004|Q6N070|Q8IYP0|Q8IYR1|Q8TEK4|Q9Y4U0	Nonsense_Mutation	SNP	ENST00000370801.3	37	c.163G>T	CCDS677.1	.	.	.	.	.	.	.	.	.	.	C	37	6.208505	0.97376	.	.	ENSG00000036549	ENST00000370801;ENST00000433749	.	.	.	4.63	4.63	0.57726	.	0.110089	0.64402	D	0.000009	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.51188	T	0.08	.	18.3833	0.90457	0.0:1.0:0.0:0.0	.	.	.	.	X	55	.	ENSP00000359837:E55X	E	-	1	0	ZZZ3	77871465	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.381000	0.79718	2.476000	0.83614	0.650000	0.86243	GAG		0.408	ZZZ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026615.1	NM_015534		62	101	1	0	2.17656e-39	1	2.44564e-39	62	101					A	78098877	C	A	78098877	4	1	435	1	0	0	0	0	0	1	0	0	18253	922	32	5	2592	5	ZZZ3	1	78098877	Nonsense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	478740	78098877	171151744	395	21320											
USP33	23032	broad.mit.edu	37	chr1	78184290	78184291	+	Frame_Shift_Ins	INS	-	-	T																															atgcccatacctcaggaaagINSttttgtactttacaaaactt																										TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:78184290_78184291insT	ENST00000370793.1	-	17	2166_2167	c.1820_1821insA	c.(1819-1821)aacfs	p.N607fs	USP33_ENST00000370794.3_Frame_Shift_Ins_p.N576fs|USP33_ENST00000357428.1_Frame_Shift_Ins_p.N607fs|USP33_ENST00000370792.3_Frame_Shift_Ins_p.N599fs	NM_015017.4	NP_055832.3	Q8TEY7	UBP33_HUMAN	ubiquitin specific peptidase 33	607	USP.				axon guidance (GO:0007411)|cell migration (GO:0016477)|centrosome duplication (GO:0051298)|endocytosis (GO:0006897)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|ubiquitin-dependent protein catabolic process (GO:0006511)	cell body (GO:0044297)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|VCB complex (GO:0030891)	cysteine-type endopeptidase activity (GO:0004197)|G-protein coupled receptor binding (GO:0001664)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|prostate(2)|urinary_tract(1)	44						CCTCAGGAAAGTTTTGTACTTT	0.282																																					Melanoma(152;72 1870 11110 26780 42647)	ENST00000370793.1																			0				breast(1)|central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|prostate(2)|urinary_tract(1)	44						c.(1819-1821)attfs		ubiquitin specific peptidase 33																																				SO:0001589	frameshift_variant	23032				axon guidance|cell migration|endocytosis|protein K48-linked deubiquitination|protein K63-linked deubiquitination|regulation of G-protein coupled receptor protein signaling pathway|ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm|VCB complex	cysteine-type endopeptidase activity|G-protein-coupled receptor binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding	g.chr1:78184290_78184291insT	AF383173	CCDS678.1, CCDS679.1, CCDS680.1	1p31	2008-02-05	2005-08-08		ENSG00000077254	ENSG00000077254		"Ubiquitin-specific peptidases"	20059	protein-coding gene	gene with protein product		615146	"ubiquitin specific protease 33"			12838346	Standard	NM_015017		Approved	KIAA1097, VDU1	uc001dht.4	Q8TEY7	OTTHUMG00000009651	ENST00000370793.1:c.1821dupA	1.37:g.78184294_78184294dupT	ENSP00000359829:p.Asn607fs					USP33_ENST00000357428.1_Frame_Shift_Ins_p.I607fs|USP33_ENST00000370792.3_Frame_Shift_Ins_p.I599fs|USP33_ENST00000370794.3_Frame_Shift_Ins_p.I576fs	p.I607fs	NM_015017.4	NP_055832.3	Q8TEY7	UBP33_HUMAN			17	2166_2167	-			607					Q8TEY6|Q96AV6|Q9H9F0|Q9UPQ5	Frame_Shift_Ins	INS	ENST00000370793.1	37	c.1820_1821insA	CCDS678.1																																																																																				0.282	USP33-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000026923.2	NM_015017		13	77						13	77	---	---	---	---	T	78184291	-	T	78184290	7	5	435	1	0	1	1	0	0	0	0	0	17061	1020	36	0	1055	0	USP33	1	78184290	Frame_Shift_Ins	INS	-	TCGA-XK-AAIW-01A-11D-A41K-08	85413	78184290	171066331	396	21321											
FUBP1	8880	broad.mit.edu	37	chr1	78426039	78426039	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	caatacttactgaggagccgGgcctggtggtccaggattat	9	10	13	9	1	0	1	0	1	0	0	1	3	1	3	3	5	3	0	3	5	4	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:78426039G>A	ENST00000370768.2	-	15	1567	c.1486C>T	c.(1486-1488)Ccg>Tcg	p.P496S	FUBP1_ENST00000370767.1_Missense_Mutation_p.P496S|FUBP1_ENST00000436586.2_Missense_Mutation_p.P517S	NM_003902.3	NP_003893.2	Q96AE4	FUBP1_HUMAN	far upstream element (FUSE) binding protein 1	496	Pro-rich.				positive regulation of gene expression (GO:0010628)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)			central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3)	17						TGAGGAGCCGGGCCTGGTGGT	0.522			"F, N"		oligodendroglioma																																	ENST00000370767.1				Rec	yes		1	1p13.1	8880	"F, N"	far upstream element (FUSE) binding protein 1			O			oligodendroglioma		0				central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3)	17						c.(1486-1488)Ccg>Tcg		far upstream element (FUSE) binding protein 1							39	45	43					1																	78426039		2203	4300	6503	SO:0001583	missense	8880				transcription from RNA polymerase II promoter	nucleus	protein binding|RNA binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding	g.chr1:78426039G>A	U05040	CCDS683.1	1p31.1	2008-02-05			ENSG00000162613	ENSG00000162613			4004	protein-coding gene	gene with protein product		603444		FUBP		8125259	Standard	XM_005271309		Approved	FBP	uc001dii.3	Q96AE4	OTTHUMG00000040799	ENST00000370768.2:c.1486C>T	1.37:g.78426039G>A	ENSP00000359804:p.Pro496Ser					FUBP1_ENST00000370768.2_Missense_Mutation_p.P496S|FUBP1_ENST00000436586.2_Missense_Mutation_p.P517S	p.P496S			Q96AE4	FUBP1_HUMAN			15	1573	-			496			Pro-rich.		Q12828	Missense_Mutation	SNP	ENST00000370768.2	37	c.1486C>T	CCDS683.1	.	.	.	.	.	.	.	.	.	.	G	11.89	1.772700	0.31411	.	.	ENSG00000162613	ENST00000370773;ENST00000370767;ENST00000370768;ENST00000394922;ENST00000436586	T;T;T	0.33438	1.43;1.41;1.43	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	T	0.22666	0.0547	L	0.58810	1.83	0.51482	D	0.999926	P;P	0.37594	0.601;0.601	B;B	0.38264	0.269;0.269	T	0.03184	-1.1063	10	0.19590	T	0.45	-11.185	19.9795	0.97321	0.0:0.0:1.0:0.0	.	517;496	B4DT31;Q96AE4	.;FUBP1_HUMAN	S	495;496;496;481;517	ENSP00000359803:P496S;ENSP00000359804:P496S;ENSP00000389536:P517S	ENSP00000294623:P495S	P	-	1	0	FUBP1	78198627	1.000000	0.71417	1.000000	0.80357	0.751000	0.42716	5.761000	0.68801	2.720000	0.93068	0.650000	0.86243	CCG		0.522	FUBP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098030.3	NM_003902		9	19	0	0	0	1	0	9	19					A	78426039	G	A	78426039	3	1	435	1	0	0	0	0	1	0	0	0	6092	1232	43	3	472	3	FUBP1	1	78426039	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	241749	78426039	170824582	397	21322											
LPHN2	23266	broad.mit.edu	37	chr1	82450315	82450315	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gacactcatactgctgtggaGgcctcccaactgagagtccc	9	8	10	14	0	1	1	1	1	0	1	3	4	3	2	3	2	3	1	3	2	2	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:82450315G>T	ENST00000370728.1	+	22	3964	c.3319G>T	c.(3319-3321)Ggc>Tgc	p.G1107C	LPHN2_ENST00000335786.5_Missense_Mutation_p.G1107C|LPHN2_ENST00000370723.1_Missense_Mutation_p.G1109C|LPHN2_ENST00000394879.1_Missense_Mutation_p.G1109C|LPHN2_ENST00000370727.1_Missense_Mutation_p.G1122C|LPHN2_ENST00000370713.1_Missense_Mutation_p.G1094C|LPHN2_ENST00000370730.1_Missense_Mutation_p.G1107C|LPHN2_ENST00000359929.3_Missense_Mutation_p.G1094C|LPHN2_ENST00000370715.1_Missense_Mutation_p.G1094C|LPHN2_ENST00000370725.1_Missense_Mutation_p.G1122C|LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000370717.2_Missense_Mutation_p.G1122C|LPHN2_ENST00000271029.4_Missense_Mutation_p.G1122C|LPHN2_ENST00000319517.6_Missense_Mutation_p.G1094C|LPHN2_ENST00000370721.1_Missense_Mutation_p.G1032C			O95490	LPHN2_HUMAN	latrophilin 2	1107					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|G-protein coupled receptor activity (GO:0004930)|latrotoxin receptor activity (GO:0016524)			NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		CTGCTGTGGAGGCCTCCCAAC	0.468																																						ENST00000370728.1																			0				NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119						c.(3319-3321)Ggc>Tgc		latrophilin 2							148	140	143					1																	82450315		2203	4300	6503	SO:0001583	missense	23266				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding	g.chr1:82450315G>T	AJ131581	CCDS689.1, CCDS72811.1	1p31.1	2014-08-08	2003-03-17	2003-05-02	ENSG00000117114	ENSG00000117114		"-", "GPCR / Class B : Orphans"	18582	protein-coding gene	gene with protein product		607018	"latrophilin 1"	LPHH1		10760572	Standard	XR_248786		Approved	KIAA0786, LEC1	uc001diu.3	O95490	OTTHUMG00000009844	ENST00000370728.1:c.3319G>T	1.37:g.82450315G>T	ENSP00000359763:p.Gly1107Cys					LPHN2_ENST00000359929.3_Missense_Mutation_p.G1094C|LPHN2_ENST00000370730.1_Missense_Mutation_p.G1107C|LPHN2_ENST00000319517.6_Missense_Mutation_p.G1094C|LPHN2_ENST00000335786.5_Missense_Mutation_p.G1107C|LPHN2_ENST00000370723.1_Missense_Mutation_p.G1109C|LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000394879.1_Missense_Mutation_p.G1109C|LPHN2_ENST00000370721.1_Missense_Mutation_p.G1032C|LPHN2_ENST00000370713.1_Missense_Mutation_p.G1094C|LPHN2_ENST00000370727.1_Missense_Mutation_p.G1122C|LPHN2_ENST00000370717.2_Missense_Mutation_p.G1122C|LPHN2_ENST00000370715.1_Missense_Mutation_p.G1094C|LPHN2_ENST00000271029.4_Missense_Mutation_p.G1122C|LPHN2_ENST00000370725.1_Missense_Mutation_p.G1122C	p.G1107C			O95490	LPHN2_HUMAN		all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)	22	3964	+			1107					A5XEI2|B1ALT8|B1ALT9|B1ALU0|B1ALU2|B1ALU4|B1ALU5|B1ALU6|O94882|Q5VX76|Q9UKY5|Q9UKY6	Missense_Mutation	SNP	ENST00000370728.1	37	c.3319G>T		.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	G|G|G	16.36|16.36|16.36	3.102699|3.102699|3.102699	0.56183|0.56183|0.56183	.|.|.	.|.|.	ENSG00000117114|ENSG00000117114|ENSG00000117114	ENST00000449420|ENST00000370721;ENST00000370728;ENST00000370730;ENST00000370727;ENST00000370725;ENST00000370723;ENST00000359929;ENST00000370715;ENST00000370713;ENST00000319517;ENST00000370717;ENST00000394879;ENST00000271029;ENST00000335786|ENST00000402328	.|T;T;T;T;T;T;T;T;T;T;T;T;T;T|.	.|0.37752|.	.|1.18;1.18;1.18;1.18;1.18;1.18;1.18;1.18;1.18;1.18;1.18;1.18;1.18;1.18|.	5.74|5.74|5.74	0.757|0.757|0.757	0.18427|0.18427|0.18427	.|.|.	.|0.170192|.	.|0.51477|.	.|D|.	.|0.000082|.	T|T|T	0.43809|0.43809|0.43809	0.1264|0.1264|0.1264	L|L|L	0.54323|0.54323|0.54323	1.7|1.7|1.7	0.44635|0.44635|0.44635	D|D|D	0.997616|0.997616|0.997616	.|D;D;D|.	.|0.76494|.	.|0.995;0.999;0.995|.	.|D;P;P|.	.|0.63703|.	.|0.917;0.849;0.879|.	T|T|T	0.36261|0.36261|0.36261	-0.9755|-0.9755|-0.9755	5|10|5	.|0.44086|.	.|T|.	.|0.13|.	.|.|.	10.278|10.278|10.278	0.43521|0.43521|0.43521	0.3172:0.0:0.6828:0.0|0.3172:0.0:0.6828:0.0|0.3172:0.0:0.6828:0.0	.|.|.	.|1094;1094;1094|.	.|O95490-3;O95490-4;O95490-2|.	.|.;.;.|.	D|C|M	998|1032;1107;1107;1122;1122;1109;1094;1094;1094;1094;1122;1109;1122;1107|112	.|ENSP00000359756:G1032C;ENSP00000359763:G1107C;ENSP00000359765:G1107C;ENSP00000359762:G1122C;ENSP00000359760:G1122C;ENSP00000359758:G1109C;ENSP00000353006:G1094C;ENSP00000359750:G1094C;ENSP00000359748:G1094C;ENSP00000322270:G1094C;ENSP00000359752:G1122C;ENSP00000378344:G1109C;ENSP00000271029:G1122C;ENSP00000337306:G1107C|.	.|ENSP00000271029:G1122C|.	E|G|R	+|+|+	3|1|2	2|0|0	LPHN2|LPHN2|LPHN2	82222903|82222903|82222903	0.997000|0.997000|0.997000	0.39634|0.39634|0.39634	0.749000|0.749000|0.749000	0.31150|0.31150|0.31150	0.787000|0.787000|0.787000	0.44495|0.44495|0.44495	2.434000|2.434000|2.434000	0.44802|0.44802|0.44802	-0.094000|-0.094000|-0.094000	0.12374|0.12374|0.12374	-0.350000|-0.350000|-0.350000	0.07774|0.07774|0.07774	GAG|GGC|AGG		0.468	LPHN2-007	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000027188.1	NM_012302		5	88	1	0	0.014758	1	0.0148771	5	88					T	82450315	G	T	82450315	3	4	435	1	0	0	0	0	1	0	0	0	8916	1000	35	5	3346	5	LPHN2	1	82450315	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	4024276	82450315	166800306	398	21323											
LPHN2	23266	broad.mit.edu	37	chr1	82450947	82450947	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgttttgtattaatagagtcGtataagaagaatgtggaatg	14	15	11	1	1	0	3	0	0	0	3	1	4	0	4	0	1	0	3	0	1	8	7			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:82450947G>A	ENST00000370728.1	+	23	4049	c.3404G>A	c.(3403-3405)cGt>cAt	p.R1135H	LPHN2_ENST00000335786.5_Missense_Mutation_p.R1135H|LPHN2_ENST00000370723.1_Missense_Mutation_p.R1137H|LPHN2_ENST00000394879.1_Missense_Mutation_p.R1137H|LPHN2_ENST00000370727.1_Missense_Mutation_p.R1150H|LPHN2_ENST00000370713.1_Intron|LPHN2_ENST00000370730.1_Missense_Mutation_p.R1135H|LPHN2_ENST00000359929.3_Missense_Mutation_p.R1122H|LPHN2_ENST00000370715.1_Missense_Mutation_p.R1122H|LPHN2_ENST00000370725.1_Missense_Mutation_p.R1150H|LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000370717.2_Missense_Mutation_p.R1150H|LPHN2_ENST00000271029.4_Missense_Mutation_p.R1150H|LPHN2_ENST00000319517.6_Missense_Mutation_p.R1122H|LPHN2_ENST00000370721.1_Missense_Mutation_p.R1060H			O95490	LPHN2_HUMAN	latrophilin 2	1135					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|G-protein coupled receptor activity (GO:0004930)|latrotoxin receptor activity (GO:0016524)			NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		TAATAGAGTCGTATAAGAAGA	0.323																																						ENST00000370728.1																			0				NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119						c.(3403-3405)cGt>cAt		latrophilin 2							81	84	83					1																	82450947		2203	4294	6497	SO:0001583	missense	23266				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding	g.chr1:82450947G>A	AJ131581	CCDS689.1, CCDS72811.1	1p31.1	2014-08-08	2003-03-17	2003-05-02	ENSG00000117114	ENSG00000117114		"-", "GPCR / Class B : Orphans"	18582	protein-coding gene	gene with protein product		607018	"latrophilin 1"	LPHH1		10760572	Standard	XR_248786		Approved	KIAA0786, LEC1	uc001diu.3	O95490	OTTHUMG00000009844	ENST00000370728.1:c.3404G>A	1.37:g.82450947G>A	ENSP00000359763:p.Arg1135His					LPHN2_ENST00000359929.3_Missense_Mutation_p.R1122H|LPHN2_ENST00000370730.1_Missense_Mutation_p.R1135H|LPHN2_ENST00000319517.6_Missense_Mutation_p.R1122H|LPHN2_ENST00000335786.5_Missense_Mutation_p.R1135H|LPHN2_ENST00000370723.1_Missense_Mutation_p.R1137H|LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000394879.1_Missense_Mutation_p.R1137H|LPHN2_ENST00000370721.1_Missense_Mutation_p.R1060H|LPHN2_ENST00000370713.1_Intron|LPHN2_ENST00000370727.1_Missense_Mutation_p.R1150H|LPHN2_ENST00000370717.2_Missense_Mutation_p.R1150H|LPHN2_ENST00000370715.1_Missense_Mutation_p.R1122H|LPHN2_ENST00000271029.4_Missense_Mutation_p.R1150H|LPHN2_ENST00000370725.1_Missense_Mutation_p.R1150H	p.R1135H			O95490	LPHN2_HUMAN		all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)	23	4049	+			1135					A5XEI2|B1ALT8|B1ALT9|B1ALU0|B1ALU2|B1ALU4|B1ALU5|B1ALU6|O94882|Q5VX76|Q9UKY5|Q9UKY6	Missense_Mutation	SNP	ENST00000370728.1	37	c.3404G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	29.0|29.0	4.965479|4.965479	0.92855|0.92855	.|.	.|.	ENSG00000117114|ENSG00000117114	ENST00000370721;ENST00000370728;ENST00000370730;ENST00000370727;ENST00000370725;ENST00000370723;ENST00000359929;ENST00000370715;ENST00000319517;ENST00000370717;ENST00000394879;ENST00000271029;ENST00000335786|ENST00000449420	T;T;T;T;T;T;T;T;T;T;T;T;T|.	0.74106|.	-0.75;-0.81;-0.63;-0.56;-0.75;-0.68;-0.59;-0.6;-0.59;-0.75;-0.68;-0.56;-0.63|.	5.05|5.05	5.05|5.05	0.67936|0.67936	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.71779|0.71779	0.3380|0.3380	M|M	0.76574|0.76574	2.34|2.34	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.97110|.	0.999;1.0|.	T|T	0.71817|0.71817	-0.4478|-0.4478	10|5	0.87932|.	D|.	0|.	.|.	18.7659|18.7659	0.91873|0.91873	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	1122;1122|.	O95490-4;O95490-2|.	.;.|.	H|I	1060;1135;1135;1150;1150;1137;1122;1122;1122;1150;1137;1150;1135|1027	ENSP00000359756:R1060H;ENSP00000359763:R1135H;ENSP00000359765:R1135H;ENSP00000359762:R1150H;ENSP00000359760:R1150H;ENSP00000359758:R1137H;ENSP00000353006:R1122H;ENSP00000359750:R1122H;ENSP00000322270:R1122H;ENSP00000359752:R1150H;ENSP00000378344:R1137H;ENSP00000271029:R1150H;ENSP00000337306:R1135H|.	ENSP00000271029:R1150H|.	R|V	+|+	2|1	0|0	LPHN2|LPHN2	82223535|82223535	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.980000|0.980000	0.70556|0.70556	9.813000|9.813000	0.99286|0.99286	2.514000|2.514000	0.84764|0.84764	0.484000|0.484000	0.47621|0.47621	CGT|GTA		0.323	LPHN2-007	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000027188.1	NM_012302		9	15	0	0	0	1	0	9	15					A	82450947	G	A	82450947	3	1	435	1	0	0	0	0	1	0	0	0	8916	1145	40	1	3435	1	LPHN2	1	82450947	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	632	82450947	166799674	399	21324											
LPHN2	23266	broad.mit.edu	37	chr1	82456574	82456574	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gactctctttatacaagcatGcccaatcttagagactctcc	11	12	5	13	0	3	1	0	0	3	1	5	3	3	1	2	0	3	1	2	0	5	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:82456574G>A	ENST00000370728.1	+	25	4770	c.4125G>A	c.(4123-4125)atG>atA	p.M1375I	LPHN2_ENST00000335786.5_Missense_Mutation_p.M1332I|LPHN2_ENST00000370723.1_Missense_Mutation_p.M1377I|LPHN2_ENST00000394879.1_Missense_Mutation_p.M1377I|LPHN2_ENST00000370727.1_Missense_Mutation_p.M1347I|LPHN2_ENST00000370713.1_3'UTR|LPHN2_ENST00000370730.1_Missense_Mutation_p.M1332I|LPHN2_ENST00000359929.3_Missense_Mutation_p.M1319I|LPHN2_ENST00000370715.1_3'UTR|LPHN2_ENST00000370725.1_Missense_Mutation_p.M1390I|LPHN2_ENST00000469377.2_3'UTR|LPHN2_ENST00000370717.2_Missense_Mutation_p.M1390I|LPHN2_ENST00000271029.4_Missense_Mutation_p.M1347I|LPHN2_ENST00000319517.6_Missense_Mutation_p.M1319I|LPHN2_ENST00000370721.1_Missense_Mutation_p.M1300I			O95490	LPHN2_HUMAN	latrophilin 2	1375					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|G-protein coupled receptor activity (GO:0004930)|latrotoxin receptor activity (GO:0016524)			NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		ATACAAGCATGCCCAATCTTA	0.493																																						ENST00000370728.1																			0				NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119						c.(4123-4125)atG>atA		latrophilin 2							89	86	87					1																	82456574		2203	4300	6503	SO:0001583	missense	23266				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding	g.chr1:82456574G>A	AJ131581	CCDS689.1, CCDS72811.1	1p31.1	2014-08-08	2003-03-17	2003-05-02	ENSG00000117114	ENSG00000117114		"-", "GPCR / Class B : Orphans"	18582	protein-coding gene	gene with protein product		607018	"latrophilin 1"	LPHH1		10760572	Standard	XR_248786		Approved	KIAA0786, LEC1	uc001diu.3	O95490	OTTHUMG00000009844	ENST00000370728.1:c.4125G>A	1.37:g.82456574G>A	ENSP00000359763:p.Met1375Ile					LPHN2_ENST00000359929.3_Missense_Mutation_p.M1319I|LPHN2_ENST00000370730.1_Missense_Mutation_p.M1332I|LPHN2_ENST00000319517.6_Missense_Mutation_p.M1319I|LPHN2_ENST00000335786.5_Missense_Mutation_p.M1332I|LPHN2_ENST00000370723.1_Missense_Mutation_p.M1377I|LPHN2_ENST00000469377.2_3'UTR|LPHN2_ENST00000394879.1_Missense_Mutation_p.M1377I|LPHN2_ENST00000370721.1_Missense_Mutation_p.M1300I|LPHN2_ENST00000370713.1_3'UTR|LPHN2_ENST00000370727.1_Missense_Mutation_p.M1347I|LPHN2_ENST00000370717.2_Missense_Mutation_p.M1390I|LPHN2_ENST00000370715.1_3'UTR|LPHN2_ENST00000271029.4_Missense_Mutation_p.M1347I|LPHN2_ENST00000370725.1_Missense_Mutation_p.M1390I	p.M1375I			O95490	LPHN2_HUMAN		all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)	25	4770	+			1375					A5XEI2|B1ALT8|B1ALT9|B1ALU0|B1ALU2|B1ALU4|B1ALU5|B1ALU6|O94882|Q5VX76|Q9UKY5|Q9UKY6	Missense_Mutation	SNP	ENST00000370728.1	37	c.4125G>A		.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	G|G|G	12.37|12.37|12.37	1.917579|1.917579|1.917579	0.33815|0.33815|0.33815	.|.|.	.|.|.	ENSG00000117114|ENSG00000117114|ENSG00000117114	ENST00000402328|ENST00000449420|ENST00000370721;ENST00000370728;ENST00000370730;ENST00000370727;ENST00000370725;ENST00000370723;ENST00000359929;ENST00000319517;ENST00000370717;ENST00000394879;ENST00000271029;ENST00000335786	.|.|T;T;T;T;T;T;T;T;T;T;T;T	.|.|0.71817	.|.|-0.44;-0.46;-0.6;-0.54;-0.39;-0.35;-0.54;-0.54;-0.39;-0.35;-0.54;-0.6	5.25|5.25|5.25	5.25|5.25|5.25	0.73442|0.73442|0.73442	.|.|.	.|.|0.000000	.|.|0.85682	.|.|D	.|.|0.000000	T|T|T	0.74137|0.74137|0.74137	0.3677|0.3677|0.3677	L|L|L	0.50333|0.50333|0.50333	1.59|1.59|1.59	0.80722|0.80722|0.80722	D|D|D	1|1|1	.|.|B;P	.|.|0.49559	.|.|0.036;0.925	.|.|B;D	.|.|0.65140	.|.|0.034;0.932	T|T|T	0.68796|0.68796|0.68796	-0.5314|-0.5314|-0.5314	5|5|10	.|.|0.22706	.|.|T	.|.|0.39	.|.|.	18.8839|18.8839|18.8839	0.92367|0.92367|0.92367	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.|.	.|.|1319;299	.|.|O95490-2;B3KVU1	.|.|.;.	T|Y|I	387|1267|1300;1375;1332;1347;1390;1377;1319;1319;1390;1377;1347;1332	.|.|ENSP00000359756:M1300I;ENSP00000359763:M1375I;ENSP00000359765:M1332I;ENSP00000359762:M1347I;ENSP00000359760:M1390I;ENSP00000359758:M1377I;ENSP00000353006:M1319I;ENSP00000322270:M1319I;ENSP00000359752:M1390I;ENSP00000378344:M1377I;ENSP00000271029:M1347I;ENSP00000337306:M1332I	.|.|ENSP00000271029:M1347I	A|C|M	+|+|+	1|2|3	0|0|0	LPHN2|LPHN2|LPHN2	82229162|82229162|82229162	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.982000|0.982000|0.982000	0.71751|0.71751|0.71751	7.260000|7.260000|7.260000	0.78391|0.78391|0.78391	2.467000|2.467000|2.467000	0.83353|0.83353|0.83353	0.561000|0.561000|0.561000	0.74099|0.74099|0.74099	GCC|TGC|ATG		0.493	LPHN2-007	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000027188.1	NM_012302		15	29	0	0	0	1	0	15	29					A	82456574	G	A	82456574	3	1	435	1	0	0	0	0	1	0	0	0	8916	1319	46	3	4031	3	LPHN2	1	82456574	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	5627	82456574	166794047	400	21325											
TTLL7	79739	broad.mit.edu	37	chr1	84408190	84408190	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtacttctctgtacccattcGcacaagcccatcatggtaga	10	11	7	13	1	2	1	1	0	1	1	4	1	2	1	2	1	3	4	2	1	4	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:84408190G>A	ENST00000260505.8	-	7	1056	c.679C>T	c.(679-681)Cga>Tga	p.R227*	TTLL7_ENST00000477524.1_5'UTR	NM_024686.4	NP_078962.4	Q6ZT98	TTLL7_HUMAN	tubulin tyrosine ligase-like family, member 7	227	TTL. {ECO:0000255|PROSITE- ProRule:PRU00568}.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)|protein polyglutamylation (GO:0018095)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	ligase activity (GO:0016874)			kidney(1)|large_intestine(8)|lung(15)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	29				all cancers(265;0.0126)|Epithelial(280;0.0372)|OV - Ovarian serous cystadenocarcinoma(397;0.16)		GTACCCATTCGCACAAGCCCA	0.363																																						ENST00000260505.8																			0				kidney(1)|large_intestine(8)|lung(15)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	29						c.(679-681)Cga>Tga		tubulin tyrosine ligase-like family, member 7							84	87	86					1																	84408190		2203	4300	6503	SO:0001587	stop_gained	79739				cell differentiation|nervous system development|protein modification process	cilium|dendrite|microtubule basal body|perikaryon	tubulin-tyrosine ligase activity	g.chr1:84408190G>A	AY170843	CCDS690.2	1p31.1	2013-02-14			ENSG00000137941	ENSG00000137941		"Tubulin tyrosine ligase-like family"	26242	protein-coding gene	gene with protein product						15890843	Standard	XM_005271208		Approved	FLJ23033	uc001djc.3	Q6ZT98	OTTHUMG00000009932	ENST00000260505.8:c.679C>T	1.37:g.84408190G>A	ENSP00000260505:p.Arg227*					TTLL7_ENST00000477524.1_5'UTR	p.R227*	NM_024686.4	NP_078962.4	Q6ZT98	TTLL7_HUMAN		all cancers(265;0.0126)|Epithelial(280;0.0372)|OV - Ovarian serous cystadenocarcinoma(397;0.16)	7	1056	-			227			TTL.		Q5TAX8|Q5TAX9|Q6P990|Q86YS1|Q9H5U4	Nonsense_Mutation	SNP	ENST00000260505.8	37	c.679C>T	CCDS690.2	.	.	.	.	.	.	.	.	.	.	G	41	8.626816	0.98890	.	.	ENSG00000137941	ENST00000260505;ENST00000370703	.	.	.	5.62	4.63	0.57726	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.1875	0.48666	0.0:0.0:0.5961:0.4039	.	.	.	.	X	227	.	ENSP00000260505:R227X	R	-	1	2	TTLL7	84180778	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.536000	0.60636	2.641000	0.89580	0.591000	0.81541	CGA		0.363	TTLL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027498.1	NM_024686		28	33	0	0	0	1	0	28	33					A	84408190	G	A	84408190	4	1	435	1	0	0	0	0	0	1	0	0	16729	1095	38	1	2044	1	TTLL7	1	84408190	Nonsense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	1951616	84408190	164842431	401	21326											
CTBS	1486	broad.mit.edu	37	chr1	85031599	85031599	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgactttgttcatcataagAcatcacaaagaggaagtcac	15	10	7	9	0	4	3	4	1	0	2	4	4	4	4	0	1	0	1	0	1	3	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:85031599A>T	ENST00000370630.5	-	4	670	c.622T>A	c.(622-624)Tct>Act	p.S208T	CTBS_ENST00000477677.1_5'UTR	NM_004388.2	NP_004379.1	Q01459	DIAC_HUMAN	chitobiase, di-N-acetyl-	208					chitin catabolic process (GO:0006032)|oligosaccharide catabolic process (GO:0009313)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	chitinase activity (GO:0004568)			breast(1)|endometrium(1)|large_intestine(4)|lung(2)|ovary(1)	9				all cancers(265;0.00727)|Epithelial(280;0.0192)|OV - Ovarian serous cystadenocarcinoma(397;0.166)		TCATCATAAGACATCACAAAG	0.388																																						ENST00000370630.4																			0				breast(1)|endometrium(1)|large_intestine(4)|lung(2)|ovary(1)	9						c.(622-624)Tct>Act		chitobiase, di-N-acetyl-							105	98	100					1																	85031599		2203	4300	6503	SO:0001583	missense	1486					lysosome	cation binding	g.chr1:85031599A>T	M95767	CCDS698.1	1p22	2010-05-04			ENSG00000117151	ENSG00000117151	3.2.1.-		2496	protein-coding gene	gene with protein product		600873		CTB		1549114, 7606925	Standard	NM_004388		Approved		uc001dka.2	Q01459	OTTHUMG00000009922	ENST00000370630.5:c.622T>A	1.37:g.85031599A>T	ENSP00000359664:p.Ser208Thr					CTBS_ENST00000477677.1_5'UTR	p.S208T	NM_004388.2	NP_004379.1	Q01459	DIAC_HUMAN		all cancers(265;0.00727)|Epithelial(280;0.0192)|OV - Ovarian serous cystadenocarcinoma(397;0.166)	4	670	-			208					Q5VX50	Missense_Mutation	SNP	ENST00000370630.5	37	c.622T>A	CCDS698.1	.	.	.	.	.	.	.	.	.	.	A	25.1	4.602451	0.87157	.	.	ENSG00000117151	ENST00000370630	T	0.04502	3.61	5.88	4.76	0.60689	Chitinase II (1);Glycoside hydrolase, family 18, catalytic domain (1);Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.047712	0.85682	D	0.000000	T	0.06781	0.0173	M	0.73430	2.235	0.54753	D	0.999982	D	0.56521	0.976	D	0.67231	0.95	T	0.27191	-1.0081	10	0.02654	T	1	-15.2923	11.6465	0.51263	0.9311:0.0:0.0689:0.0	.	208	Q01459	DIAC_HUMAN	T	208	ENSP00000359664:S208T	ENSP00000359659:S117T	S	-	1	0	CTBS	84804187	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.307000	0.96226	1.065000	0.40693	0.533000	0.62120	TCT		0.388	CTBS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027457.2	NM_004388		10	45	0	0	0	1	0	10	45					T	85031599	A	T	85031599	3	4	435	1	0	0	0	0	1	0	0	0	3999	275	10	5	551	5	CTBS	1	85031599	Missense_Mutation	SNP	A	TCGA-XK-AAIW-01A-11D-A41K-08	623409	85031599	164219022	402	21327											
LPAR3	23566	broad.mit.edu	37	chr1	85279775	85279775	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aggaaccaccttttcacatgCtgcacgccacactgcctgca	10	8	7	16	1	1	0	1	0	0	0	1	1	1	1	4	1	5	3	4	1	1	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:85279775C>A	ENST00000440886.1	-	2	854	c.816G>T	c.(814-816)caG>caT	p.Q272H	LPAR3_ENST00000370611.3_Missense_Mutation_p.Q272H|LPAR3_ENST00000491034.1_5'UTR			Q9UBY5	LPAR3_HUMAN	lysophosphatidic acid receptor 3	272					activation of MAPK activity (GO:0000187)|bleb assembly (GO:0032060)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of collateral sprouting (GO:0048672)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|synaptic transmission (GO:0007268)	axon (GO:0030424)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|lipid binding (GO:0008289)|lysophosphatidic acid receptor activity (GO:0070915)|phospholipid binding (GO:0005543)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|urinary_tract(1)	24						TTTTCACATGCTGCACGCCAC	0.587																																						ENST00000440886.1																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|urinary_tract(1)	24						c.(814-816)caG>caT		lysophosphatidic acid receptor 3							95	88	90					1																	85279775		2203	4300	6503	SO:0001583	missense	23566				G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane|intracellular membrane-bounded organelle		g.chr1:85279775C>A	AF127138	CCDS700.1	1p22.3	2012-08-08	2008-04-11	2008-04-11	ENSG00000171517	ENSG00000171517		"GPCR / Class A : Lysophospholipid receptors : Lysophosphatidic acid"	14298	protein-coding gene	gene with protein product		605106	"endothelial differentiation, lysophosphatidic acid G-protein-coupled receptor, 7"	EDG7		10488122	Standard	NM_012152		Approved	LP-A3, Edg-7, RP4-678I3, HOFNH30, LPA3	uc009wcj.1	Q9UBY5	OTTHUMG00000009925	ENST00000440886.1:c.816G>T	1.37:g.85279775C>A	ENSP00000395389:p.Gln272His					LPAR3_ENST00000491034.1_5'UTR|LPAR3_ENST00000370611.3_Missense_Mutation_p.Q272H	p.Q272H			Q9UBY5	LPAR3_HUMAN			2	854	-			272					A0AVA3	Missense_Mutation	SNP	ENST00000440886.1	37	c.816G>T	CCDS700.1	.	.	.	.	.	.	.	.	.	.	C	19.21	3.784164	0.70222	.	.	ENSG00000171517	ENST00000440886;ENST00000370611	T;T	0.72167	-0.63;-0.63	5.65	3.56	0.40772	GPCR, rhodopsin-like superfamily (1);	0.187888	0.47852	D	0.000206	T	0.61776	0.2374	L	0.27975	0.815	0.34812	D	0.737762	D	0.67145	0.996	D	0.64877	0.93	T	0.66740	-0.5847	10	0.51188	T	0.08	.	11.6325	0.51185	0.0:0.8436:0.0:0.1564	.	272	Q9UBY5	LPAR3_HUMAN	H	272	ENSP00000395389:Q272H;ENSP00000359643:Q272H	ENSP00000359643:Q272H	Q	-	3	2	LPAR3	85052363	1.000000	0.71417	1.000000	0.80357	0.865000	0.49528	4.030000	0.57260	0.597000	0.29811	0.650000	0.86243	CAG		0.587	LPAR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027467.1	NM_012152		23	26	1	0	2.44723e-14	1	2.66926e-14	23	26					A	85279775	C	A	85279775	3	1	435	1	0	0	0	0	1	0	0	0	8906	796	28	5	249	5	LPAR3	1	85279775	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	248176	85279775	163970846	403	21328											
LPAR3	23566	broad.mit.edu	37	chr1	85331569	85331569	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gaatacataggcaattccagCgaagaaatcggcagcagcta	16	6	10	9	2	0	1	0	0	0	1	2	3	1	1	1	2	4	4	1	2	7	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:85331569C>T	ENST00000440886.1	-	1	273	c.235G>A	c.(235-237)Gct>Act	p.A79T	LPAR3_ENST00000370611.3_Missense_Mutation_p.A79T|LPAR3_ENST00000491034.1_5'UTR			Q9UBY5	LPAR3_HUMAN	lysophosphatidic acid receptor 3	79					activation of MAPK activity (GO:0000187)|bleb assembly (GO:0032060)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of collateral sprouting (GO:0048672)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|synaptic transmission (GO:0007268)	axon (GO:0030424)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|lipid binding (GO:0008289)|lysophosphatidic acid receptor activity (GO:0070915)|phospholipid binding (GO:0005543)	p.A79T(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|urinary_tract(1)	24						GCAATTCCAGCGAAGAAATCG	0.438																																						ENST00000440886.1																			1	Substitution - Missense(1)	p.A79T(1)	central_nervous_system(1)	central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|urinary_tract(1)	24						c.(235-237)Gct>Act		lysophosphatidic acid receptor 3							99	105	103					1																	85331569		2203	4300	6503	SO:0001583	missense	23566				G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane|intracellular membrane-bounded organelle		g.chr1:85331569C>T	AF127138	CCDS700.1	1p22.3	2012-08-08	2008-04-11	2008-04-11	ENSG00000171517	ENSG00000171517		"GPCR / Class A : Lysophospholipid receptors : Lysophosphatidic acid"	14298	protein-coding gene	gene with protein product		605106	"endothelial differentiation, lysophosphatidic acid G-protein-coupled receptor, 7"	EDG7		10488122	Standard	NM_012152		Approved	LP-A3, Edg-7, RP4-678I3, HOFNH30, LPA3	uc009wcj.1	Q9UBY5	OTTHUMG00000009925	ENST00000440886.1:c.235G>A	1.37:g.85331569C>T	ENSP00000395389:p.Ala79Thr					LPAR3_ENST00000491034.1_5'UTR|LPAR3_ENST00000370611.3_Missense_Mutation_p.A79T	p.A79T			Q9UBY5	LPAR3_HUMAN			1	273	-			79					A0AVA3	Missense_Mutation	SNP	ENST00000440886.1	37	c.235G>A	CCDS700.1	.	.	.	.	.	.	.	.	.	.	C	33	5.226145	0.95173	.	.	ENSG00000171517	ENST00000440886;ENST00000370611	T;T	0.71934	-0.61;-0.61	5.95	5.95	0.96441	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.81465	0.4828	M	0.64676	1.99	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.81331	-0.0981	10	0.72032	D	0.01	.	20.3932	0.98965	0.0:1.0:0.0:0.0	.	79	Q9UBY5	LPAR3_HUMAN	T	79	ENSP00000395389:A79T;ENSP00000359643:A79T	ENSP00000359643:A79T	A	-	1	0	LPAR3	85104157	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	5.943000	0.70211	2.824000	0.97209	0.655000	0.94253	GCT		0.438	LPAR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027467.1	NM_012152		46	71	0	0	0	1	0	46	71					T	85331569	C	T	85331569	3	4	435	1	0	0	0	0	1	0	0	0	8906	768	27	1	834	1	LPAR3	1	85331569	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	51794	85331569	163919052	404	21329											
WDR63	126820	broad.mit.edu	37	chr1	85551600	85551600	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcttccagtgtaaaagatgcCtatattgaatgtacagccta	13	12	8	8	0	0	2	0	1	0	1	1	2	1	2	3	0	3	3	3	0	7	7			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:85551600C>A	ENST00000294664.6	+	7	807	c.627C>A	c.(625-627)gcC>gcA	p.A209A	WDR63_ENST00000326813.8_Silent_p.A209A|WDR63_ENST00000370596.1_Silent_p.A209A	NM_145172.3	NP_660155.2	Q8IWG1	WDR63_HUMAN	WD repeat domain 63	209										NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)	36				all cancers(265;0.00391)|Epithelial(280;0.00922)|Colorectal(170;0.166)		TAAAAGATGCCTATATTGAAT	0.353																																						ENST00000294664.6																			0				NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)	36						c.(625-627)gcC>gcA		WD repeat domain 63							110	104	106					1																	85551600		2203	4300	6503	SO:0001819	synonymous_variant	126820							g.chr1:85551600C>A		CCDS702.1, CCDS72818.1	1p22.3	2014-02-21	2013-02-19	2013-02-19	ENSG00000162643	ENSG00000162643		"WD repeat domain containing"	30711	protein-coding gene	gene with protein product						21953912	Standard	XM_005270438		Approved	DIC3, FLJ30067, NYD-SP29	uc001dkt.3	Q8IWG1	OTTHUMG00000009953	ENST00000294664.6:c.627C>A	1.37:g.85551600C>A						WDR63_ENST00000370596.1_Silent_p.A209A|WDR63_ENST00000326813.8_Silent_p.A209A	p.A209A	NM_145172.3	NP_660155.2	Q8IWG1	WDR63_HUMAN		all cancers(265;0.00391)|Epithelial(280;0.00922)|Colorectal(170;0.166)	7	807	+			209					A8K988|Q96L72|Q96NU4	Silent	SNP	ENST00000294664.6	37	c.627C>A	CCDS702.1																																																																																				0.353	WDR63-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027565.2	NM_145172		22	30	1	0	1.10513e-12	1	1.19686e-12	22	30					A	85551600	C	A	85551600	2	1	435	1	0	0	0	0	0	0	0	1	17311	668	24	5		5	WDR63	1	85551600	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	220031	85551600	163699021	405	21330											
COL24A1	255631	broad.mit.edu	37	chr1	86203178	86203178	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cagccaagatttgggtcaatCcagtattttcctaataattt	12	15	6	8	0	1	1	1	0	0	1	3	1	3	1	3	1	1	1	3	1	5	7			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:86203178C>T	ENST00000370571.2	-	58	5049	c.4683G>A	c.(4681-4683)tgG>tgA	p.W1561*	COL24A1_ENST00000436319.1_Nonsense_Mutation_p.W1540*	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1	1561	Fibrillar collagen NC1. {ECO:0000255|PROSITE-ProRule:PRU00793}.				extracellular matrix organization (GO:0030198)|hematopoietic progenitor cell differentiation (GO:0002244)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)			NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		TTGGGTCAATCCAGTATTTTC	0.343																																						ENST00000370571.2																			0				NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101						c.(4681-4683)tgG>tgA		collagen, type XXIV, alpha 1							55	53	53					1																	86203178		1845	4086	5931	SO:0001587	stop_gained	255631				cell adhesion	collagen	extracellular matrix structural constituent	g.chr1:86203178C>T	AF410793	CCDS41353.1	1p22.3-p22.2	2013-01-16			ENSG00000171502	ENSG00000171502		"Collagens"	20821	protein-coding gene	gene with protein product		610025					Standard	NM_152890		Approved		uc001dlj.3	Q17RW2	OTTHUMG00000010629	ENST00000370571.2:c.4683G>A	1.37:g.86203178C>T	ENSP00000359603:p.Trp1561*					COL24A1_ENST00000436319.1_Nonsense_Mutation_p.W1540*	p.W1561*	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN		all cancers(265;0.0627)|Epithelial(280;0.0689)	58	5049	-			1561			Fibrillar collagen NC1.		C9J1X6|Q14BD7|Q59EX5|Q5VY50|Q7Z5L5	Nonsense_Mutation	SNP	ENST00000370571.2	37	c.4683G>A	CCDS41353.1	.	.	.	.	.	.	.	.	.	.	C	44	10.713958	0.99455	.	.	ENSG00000171502	ENST00000370571;ENST00000436319	.	.	.	4.68	4.68	0.58851	.	0.000000	0.35585	N	0.003119	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	17.7873	0.88542	0.0:1.0:0.0:0.0	.	.	.	.	X	1561;1540	.	ENSP00000359603:W1561X	W	-	3	0	COL24A1	85975766	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.434000	0.80377	2.417000	0.82017	0.563000	0.77884	TGG		0.343	COL24A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029335.4	NM_152890		9	16	0	0	0	1	0	9	16					T	86203178	C	T	86203178	4	4	435	1	0	0	0	0	0	1	0	0	3683	856	30	3	473	3	COL24A1	1	86203178	Nonsense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	651578	86203178	163047443	406	21331											
COL24A1	255631	broad.mit.edu	37	chr1	86210460	86210460	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	taaattgctaaggtagttcaGggttttgaatatctcttcac	11	16	8	6	0	3	1	2	1	1	0	4	1	3	1	0	2	1	4	0	2	6	9			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:86210460G>T	ENST00000370571.2	-	57	4927	c.4561C>A	c.(4561-4563)Ctg>Atg	p.L1521M	COL24A1_ENST00000436319.1_Missense_Mutation_p.L1500M	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1	1521	Fibrillar collagen NC1. {ECO:0000255|PROSITE-ProRule:PRU00793}.				extracellular matrix organization (GO:0030198)|hematopoietic progenitor cell differentiation (GO:0002244)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)			NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		AGGTAGTTCAGGGTTTTGAAT	0.368																																						ENST00000370571.2																			0				NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101						c.(4561-4563)Ctg>Atg		collagen, type XXIV, alpha 1							187	175	179					1																	86210460		1875	4095	5970	SO:0001583	missense	255631				cell adhesion	collagen	extracellular matrix structural constituent	g.chr1:86210460G>T	AF410793	CCDS41353.1	1p22.3-p22.2	2013-01-16			ENSG00000171502	ENSG00000171502		"Collagens"	20821	protein-coding gene	gene with protein product		610025					Standard	NM_152890		Approved		uc001dlj.3	Q17RW2	OTTHUMG00000010629	ENST00000370571.2:c.4561C>A	1.37:g.86210460G>T	ENSP00000359603:p.Leu1521Met					COL24A1_ENST00000436319.1_Missense_Mutation_p.L1500M	p.L1521M	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN		all cancers(265;0.0627)|Epithelial(280;0.0689)	57	4927	-			1521			Fibrillar collagen NC1.		C9J1X6|Q14BD7|Q59EX5|Q5VY50|Q7Z5L5	Missense_Mutation	SNP	ENST00000370571.2	37	c.4561C>A	CCDS41353.1	.	.	.	.	.	.	.	.	.	.	G	14.80	2.642288	0.47153	.	.	ENSG00000171502	ENST00000370571;ENST00000436319	D;D	0.94232	-3.38;-3.16	5.49	3.53	0.40419	Fibrillar collagen, C-terminal (2);	0.728188	0.11826	N	0.525690	D	0.95348	0.8490	M	0.80746	2.51	0.50039	D	0.99984	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.93220	0.6608	10	0.72032	D	0.01	.	10.2384	0.43297	0.2242:0.0:0.7758:0.0	.	1521;1500	Q17RW2;Q17RW2-2	COOA1_HUMAN;.	M	1521;1500	ENSP00000359603:L1521M;ENSP00000392531:L1500M	ENSP00000359603:L1521M	L	-	1	2	COL24A1	85983048	1.000000	0.71417	0.990000	0.47175	0.990000	0.78478	3.265000	0.51561	0.719000	0.32188	0.563000	0.77884	CTG		0.368	COL24A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029335.4	NM_152890		22	46	1	0	0.000175454	1	0.00017952	22	46					T	86210460	G	T	86210460	3	4	435	1	0	0	0	0	1	0	0	0	3683	991	35	5	599	5	COL24A1	1	86210460	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	7282	86210460	163040161	407	21332											
COL24A1	255631	broad.mit.edu	37	chr1	86512508	86512508	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaaacacaaattaagatacCtgtctccccttaaaaccctt	17	10	2	12	0	1	1	0	0	1	1	2	1	1	1	4	0	3	0	4	0	7	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:86512508C>A	ENST00000370571.2	-	12	2316	c.1950G>T	c.(1948-1950)caG>caT	p.Q650H	COL24A1_ENST00000436319.1_Splice_Site_p.Q650H	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1	650					extracellular matrix organization (GO:0030198)|hematopoietic progenitor cell differentiation (GO:0002244)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)			NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		ATTAAGATACCTGTCTCCCCT	0.313																																						ENST00000370571.2																			0				NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101						c.e12+1		collagen, type XXIV, alpha 1							133	133	133					1																	86512508		1804	4067	5871	SO:0001630	splice_region_variant	255631				cell adhesion	collagen	extracellular matrix structural constituent	g.chr1:86512508C>A	AF410793	CCDS41353.1	1p22.3-p22.2	2013-01-16			ENSG00000171502	ENSG00000171502		"Collagens"	20821	protein-coding gene	gene with protein product		610025					Standard	NM_152890		Approved		uc001dlj.3	Q17RW2	OTTHUMG00000010629	ENST00000370571.2:c.1950+1G>T	1.37:g.86512508C>A						COL24A1_ENST00000436319.1_Splice_Site_p.Q650_splice	p.Q650_splice	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN		all cancers(265;0.0627)|Epithelial(280;0.0689)	12	2316	-			650					C9J1X6|Q14BD7|Q59EX5|Q5VY50|Q7Z5L5	Splice_Site	SNP	ENST00000370571.2	37	c.1950_splice	CCDS41353.1	.	.	.	.	.	.	.	.	.	.	C	9.593	1.126723	0.20959	.	.	ENSG00000171502	ENST00000370571;ENST00000436319	D;D	0.93712	-3.27;-3.27	4.22	4.22	0.49857	.	0.000000	0.35870	N	0.002931	D	0.86851	0.6032	L	0.51422	1.61	0.39392	D	0.966443	B;B	0.33841	0.428;0.044	B;B	0.35899	0.213;0.065	D	0.85335	0.1092	9	.	.	.	.	12.3912	0.55360	0.0:1.0:0.0:0.0	.	650;650	F8WDM8;Q17RW2	.;COOA1_HUMAN	H	650	ENSP00000359603:Q650H;ENSP00000392531:Q650H	.	Q	-	3	2	COL24A1	86285096	1.000000	0.71417	1.000000	0.80357	0.811000	0.45836	3.018000	0.49625	2.616000	0.88540	0.655000	0.94253	CAG		0.313	COL24A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029335.4	NM_152890	Missense_Mutation	9	65	1	0	9.70103e-10	1	1.03282e-09	9	65					A	86512508	C	A	86512508	5	1	435	1	0	0	0	0	0	0	1	0	3683	695	24	5	3390	5	COL24A1	1	86512508	Splice_Site	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	302048	86512508	162738113	408	21333											
COL24A1	255631	broad.mit.edu	37	chr1	86590931	86590931	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gagagctaaatttctctttgGtattcatttttgcctcactg	8	18	7	8	0	3	1	2	0	1	1	4	2	3	1	1	1	2	2	1	1	3	7			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:86590931G>A	ENST00000370571.2	-	3	1454	c.1088C>T	c.(1087-1089)aCc>aTc	p.T363I	COL24A1_ENST00000436319.1_Missense_Mutation_p.T363I	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1	363					extracellular matrix organization (GO:0030198)|hematopoietic progenitor cell differentiation (GO:0002244)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)			NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		TTTCTCTTTGGTATTCATTTT	0.398																																						ENST00000370571.2																			0				NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101						c.(1087-1089)aCc>aTc		collagen, type XXIV, alpha 1							156	136	143					1																	86590931		1926	4125	6051	SO:0001583	missense	255631				cell adhesion	collagen	extracellular matrix structural constituent	g.chr1:86590931G>A	AF410793	CCDS41353.1	1p22.3-p22.2	2013-01-16			ENSG00000171502	ENSG00000171502		"Collagens"	20821	protein-coding gene	gene with protein product		610025					Standard	NM_152890		Approved		uc001dlj.3	Q17RW2	OTTHUMG00000010629	ENST00000370571.2:c.1088C>T	1.37:g.86590931G>A	ENSP00000359603:p.Thr363Ile					COL24A1_ENST00000436319.1_Missense_Mutation_p.T363I	p.T363I	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN		all cancers(265;0.0627)|Epithelial(280;0.0689)	3	1454	-			363					C9J1X6|Q14BD7|Q59EX5|Q5VY50|Q7Z5L5	Missense_Mutation	SNP	ENST00000370571.2	37	c.1088C>T	CCDS41353.1	.	.	.	.	.	.	.	.	.	.	G	0.065	-1.215913	0.01542	.	.	ENSG00000171502	ENST00000370571;ENST00000436319	T;T	0.17370	2.28;2.28	5.45	0.133	0.14766	.	1.027830	0.07781	N	0.953341	T	0.02342	0.0072	N	0.14661	0.345	0.09310	N	1	B;B	0.15141	0.012;0.004	B;B	0.14023	0.01;0.005	T	0.46345	-0.9198	10	0.35671	T	0.21	.	2.087	0.03648	0.1612:0.2659:0.373:0.1999	.	363;363	F8WDM8;Q17RW2	.;COOA1_HUMAN	I	363	ENSP00000359603:T363I;ENSP00000392531:T363I	ENSP00000359603:T363I	T	-	2	0	COL24A1	86363519	0.000000	0.05858	0.000000	0.03702	0.157000	0.22087	-0.074000	0.11450	-0.237000	0.09739	0.563000	0.77884	ACC		0.398	COL24A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029335.4	NM_152890		22	38	0	0	0	1	0	22	38					A	86590931	G	A	86590931	3	1	435	1	0	0	0	0	1	0	0	0	3683	1261	44	3	4288	3	COL24A1	1	86590931	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	78423	86590931	162659690	409	21334											
CLCA4	22802	broad.mit.edu	37	chr1	87043586	87043586	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttcatttctataacaaggCgctgattctttcaagaatga	12	14	6	9	1	4	3	2	2	2	1	4	3	4	3	1	1	1	1	1	1	5	6	rs138241227	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:87043586C>T	ENST00000370563.3	+	12	1995	c.1953C>T	c.(1951-1953)ggC>ggT	p.G651G	RP4-651E10.4_ENST00000456587.1_RNA	NM_012128.3	NP_036260.2	Q14CN2	CLCA4_HUMAN	chloride channel accessory 4	651					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	chloride channel activity (GO:0005254)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44		Lung NSC(277;0.238)		all cancers(265;0.0202)|Epithelial(280;0.0404)		TATAACAAGGCGCTGATTCTT	0.373													C|||	3	0.000599042	0.0023	0	5008	,	,		18084	0		0	False		,,,				2504	0					ENST00000370563.3																			0				breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44						c.e12-1		chloride channel accessory 4		C		1,3609		0,1,1804	44	41	42		1953	0.1	1	1	dbSNP_134	42	0,8144		0,0,4072	yes	coding-synonymous-near-splice	CLCA4	NM_012128.3		0,1,5876	TT,TC,CC		0.0,0.0277,0.0085		651/920	87043586	1,11753	1805	4072	5877	SO:0001630	splice_region_variant	22802					apical plasma membrane|extracellular region|integral to plasma membrane	chloride channel activity	g.chr1:87043586C>T	AF127035	CCDS41355.1	1p31-p22	2012-02-26	2009-01-29		ENSG00000016602	ENSG00000016602			2018	protein-coding gene	gene with protein product			"chloride channel, calcium activated, family member 4", "chloride channel regulator 4"			10437792	Standard	NM_012128		Approved	CaCC2	uc009wcs.3	Q14CN2	OTTHUMG00000010260	ENST00000370563.3:c.1952-1C>T	1.37:g.87043586C>T						RP4-651E10.4_ENST00000456587.1_RNA	p.G651_splice	NM_012128.3	NP_036260.2	Q14CN2	CLCA4_HUMAN		all cancers(265;0.0202)|Epithelial(280;0.0404)	12	1995	+		Lung NSC(277;0.238)	651					A8MQC9|B7Z1Q5|Q6UX81|Q9UNF7	Splice_Site	SNP	ENST00000370563.3	37	c.1951_splice	CCDS41355.1																																																																																				0.373	CLCA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028292.1	NM_012128	Silent	14	22	0	0	0	1	0	14	22					T	87043586	C	T	87043586	5	4	435	1	0	0	0	0	0	0	1	0	3459	782	27	1	1999	1	CLCA4	1	87043586	Splice_Site	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	452655	87043586	162207035	410	21335											
CLCA4	22802	broad.mit.edu	37	chr1	87045161	87045161	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caagtcccaagccttcccttGcctgaccaatacccaccaag	11	7	5	18	0	0	1	0	1	0	0	2	1	2	1	7	0	3	0	7	0	5	3	rs545838885		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:87045161G>A	ENST00000370563.3	+	13	2289	c.2247G>A	c.(2245-2247)ttG>ttA	p.L749L	RP4-651E10.4_ENST00000456587.1_RNA	NM_012128.3	NP_036260.2	Q14CN2	CLCA4_HUMAN	chloride channel accessory 4	749					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	chloride channel activity (GO:0005254)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44		Lung NSC(277;0.238)		all cancers(265;0.0202)|Epithelial(280;0.0404)		GCCTTCCCTTGCCTGACCAAT	0.463													G|||	1	0.000199681	0	0	5008	,	,		17215	0		0	False		,,,				2504	0.001					ENST00000370563.3																			0				breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44						c.(2245-2247)ttG>ttA		chloride channel accessory 4							131	122	125					1																	87045161		1961	4152	6113	SO:0001819	synonymous_variant	22802					apical plasma membrane|extracellular region|integral to plasma membrane	chloride channel activity	g.chr1:87045161G>A	AF127035	CCDS41355.1	1p31-p22	2012-02-26	2009-01-29		ENSG00000016602	ENSG00000016602			2018	protein-coding gene	gene with protein product			"chloride channel, calcium activated, family member 4", "chloride channel regulator 4"			10437792	Standard	NM_012128		Approved	CaCC2	uc009wcs.3	Q14CN2	OTTHUMG00000010260	ENST00000370563.3:c.2247G>A	1.37:g.87045161G>A						RP4-651E10.4_ENST00000456587.1_RNA	p.L749L	NM_012128.3	NP_036260.2	Q14CN2	CLCA4_HUMAN		all cancers(265;0.0202)|Epithelial(280;0.0404)	13	2289	+		Lung NSC(277;0.238)	749					A8MQC9|B7Z1Q5|Q6UX81|Q9UNF7	Silent	SNP	ENST00000370563.3	37	c.2247G>A	CCDS41355.1																																																																																				0.463	CLCA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028292.1	NM_012128		30	53	0	0	0	1	0	30	53					A	87045161	G	A	87045161	2	1	435	1	0	0	0	0	0	0	0	1	3459	1310	46	3		3	CLCA4	1	87045161	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	1575	87045161	162205460	411	21336											
SEP15	9403	broad.mit.edu	37	chr1	87369093	87369093	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctagaaaagcctaactctctGcatgcctccgatgaaaactc	13	9	6	13	1	1	2	0	1	1	1	4	3	2	2	3	0	5	1	3	0	6	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:87369093G>A	ENST00000331835.5	-	2	376	c.114C>T	c.(112-114)tgC>tgT	p.C38C	SEP15_ENST00000370554.1_Silent_p.C38C|SEP15_ENST00000401030.3_Silent_p.C38C|SEP15_ENST00000469566.1_5'UTR	NM_004261.3	NP_004252.2	O60613	SEP15_HUMAN		38					'de novo' posttranslational protein folding (GO:0051084)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)	selenium binding (GO:0008430)						Lung NSC(277;0.153)		all cancers(265;0.00744)|Epithelial(280;0.0333)		CTAACTCTCTGCATGCCTCCG	0.418																																						ENST00000331835.5																			0											c.(112-114)tgC>tgT									45	43	44					1																	87369093		1881	4120	6001	SO:0001819	synonymous_variant	0							g.chr1:87369093G>A																												ENST00000331835.5:c.114C>T	1.37:g.87369093G>A						RP4-604K5.1_ENST00000401030.3_Silent_p.C38C|RP4-604K5.1_ENST00000370554.1_Silent_p.C38C|RP4-604K5.1_ENST00000469566.1_5'UTR	p.C38C	NM_004261.3	NP_004252.2					2	376	-								Q4GZG7|Q8WU00|Q9BS64|Q9GZW0|Q9NR01	Silent	SNP	ENST00000331835.5	37	c.114C>T																																																																																					0.418	SEP15-001	KNOWN	basic|appris_principal|seleno	protein_coding	protein_coding	OTTHUMT00000023518.1			6	18	0	0	0	1	0	6	18					A	87369093	G	A	87369093	2	1	435	1	0	0	0	0	0	0	0	1	14053	1311	46	3		3	SEP15	1	87369093	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	323932	87369093	161881528	412	21337											
SEP15	9653	broad.mit.edu	37	chr1	87379755	87379755	+	5'Flank	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	caaccgtagcccaaacgccgGcaccagacacccactcggcc	11	2	8	20	4	0	1	0	0	0	1	1	1	0	1	6	2	3	2	6	2	3	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:87379755G>A	ENST00000370550.5	+	0	0				SEP15_ENST00000370554.1_Missense_Mutation_p.P11S|SEP15_ENST00000401030.3_Missense_Mutation_p.P11S|HS2ST1_ENST00000370551.4_5'Flank|SEP15_ENST00000331835.5_Missense_Mutation_p.P11S|SEP15_ENST00000469566.1_Intron	NM_012262.3	NP_036394.1	Q7LGA3	HS2ST_HUMAN	heparan sulfate 2-O-sulfotransferase 1						carbohydrate metabolic process (GO:0005975)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	sulfotransferase activity (GO:0008146)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)	9		Lung NSC(277;0.153)		all cancers(265;0.00699)|Epithelial(280;0.0261)		CCAAACGCCGGCACCAGACAC	0.602																																						ENST00000331835.5																			0											c.(31-33)Ccg>Tcg									57	79	71					1																	87379755		2071	4215	6286	SO:0001631	upstream_gene_variant	0							g.chr1:87379755G>A	AB007917	CCDS711.1, CCDS44171.1	1p22.3	2008-02-05			ENSG00000153936	ENSG00000153936		"Sulfotransferases, membrane-bound"	5193	protein-coding gene	gene with protein product		604844				9455484	Standard	NM_012262		Approved	KIAA0448	uc010osk.2	Q7LGA3	OTTHUMG00000010255		1.37:g.87379755G>A	Exception_encountered					RP4-604K5.1_ENST00000401030.3_Missense_Mutation_p.P11S|RP4-604K5.1_ENST00000370554.1_Missense_Mutation_p.P11S|RP4-604K5.1_ENST00000469566.1_Intron	p.P11S	NM_004261.3	NP_004252.2					1	293	-								D3DT22|O75036|Q32NB5|Q8TAC5|Q9H441|Q9NUJ9	Missense_Mutation	SNP	ENST00000370550.5	37	c.31C>T	CCDS711.1	.	.	.	.	.	.	.	.	.	.	G	13.40	2.225446	0.39300	.	.	ENSG00000183291	ENST00000331835;ENST00000370554;ENST00000401030	.	.	.	5.27	2.34	0.29019	.	0.185093	0.49305	N	0.000159	T	0.09862	0.0242	L	0.44542	1.39	0.23515	N	0.997515	B;B	0.10296	0.003;0.001	B;B	0.11329	0.006;0.001	T	0.35871	-0.9771	9	0.08179	T	0.78	-4.3168	5.1625	0.15068	0.1824:0.1698:0.6478:0.0	.	11;11	O60613-2;O60613	.;SEP15_HUMAN	S	11	.	ENSP00000328729:P11S	P	-	1	0	RP4-604K5.1	87152343	0.520000	0.26250	0.196000	0.23383	0.010000	0.07245	2.753000	0.47524	0.350000	0.24002	0.561000	0.74099	CCG		0.602	HS2ST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028279.2	NM_012262		7	25	0	0	0	1	0	7	25					A	87379755	G	A	87379755	1	1	435	0	1	0	0	0	0	0	0	0	14053	1203	42	3		3	SEP15	1	87379755	5'Flank	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	10662	87379755	161870866	413	21338											
HS2ST1	9653	broad.mit.edu	37	chr1	87538637	87538637	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aaagggctattgcaagacacGaagtccgagaaattgagcag	16	6	12	7	2	0	3	0	1	0	2	1	5	1	3	1	1	2	3	1	1	5	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:87538637G>A	ENST00000370550.5	+	2	508	c.145G>A	c.(145-147)Gaa>Aaa	p.E49K	HS2ST1_ENST00000370551.4_Missense_Mutation_p.E49K|HS2ST1_ENST00000356813.4_Missense_Mutation_p.E23K|RP5-1052I5.2_ENST00000370548.2_Missense_Mutation_p.E23K	NM_012262.3	NP_036394.1	Q7LGA3	HS2ST_HUMAN	heparan sulfate 2-O-sulfotransferase 1	49					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	sulfotransferase activity (GO:0008146)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)	9		Lung NSC(277;0.153)		all cancers(265;0.00699)|Epithelial(280;0.0261)		TGCAAGACACGAAGTCCGAGA	0.413																																						ENST00000370550.5																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)	9						c.(145-147)Gaa>Aaa		heparan sulfate 2-O-sulfotransferase 1							71	65	67					1																	87538637		2203	4300	6503	SO:0001583	missense	9653					Golgi membrane|integral to membrane		g.chr1:87538637G>A	AB007917	CCDS711.1, CCDS44171.1	1p22.3	2008-02-05			ENSG00000153936	ENSG00000153936		"Sulfotransferases, membrane-bound"	5193	protein-coding gene	gene with protein product		604844				9455484	Standard	NM_012262		Approved	KIAA0448	uc010osk.2	Q7LGA3	OTTHUMG00000010255	ENST00000370550.5:c.145G>A	1.37:g.87538637G>A	ENSP00000359581:p.Glu49Lys					HS2ST1_ENST00000370551.4_Missense_Mutation_p.E49K|HS2ST1_ENST00000356813.4_Missense_Mutation_p.E23K|RP5-1052I5.2_ENST00000370548.2_Missense_Mutation_p.E23K	p.E49K	NM_012262.3	NP_036394.1	Q7LGA3	HS2ST_HUMAN		all cancers(265;0.00699)|Epithelial(280;0.0261)	2	508	+		Lung NSC(277;0.153)	49					D3DT22|O75036|Q32NB5|Q8TAC5|Q9H441|Q9NUJ9	Missense_Mutation	SNP	ENST00000370550.5	37	c.145G>A	CCDS711.1	.	.	.	.	.	.	.	.	.	.	G	17.66	3.443467	0.63067	.	.	ENSG00000153936	ENST00000370551;ENST00000370550;ENST00000370548;ENST00000356813	.	.	.	5.09	5.09	0.68999	.	0.095853	0.64402	D	0.000001	T	0.32912	0.0845	L	0.27053	0.805	0.80722	D	1	P;D	0.58268	0.491;0.982	B;P	0.44518	0.028;0.452	T	0.05241	-1.0897	9	0.28530	T	0.3	-2.9831	18.6951	0.91598	0.0:0.0:1.0:0.0	.	49;23	Q7LGA3;Q7LGA3-2	HS2ST_HUMAN;.	K	49;49;23;23	.	ENSP00000349268:E23K	E	+	1	0	HS2ST1	87311225	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.674000	0.83992	2.628000	0.89032	0.563000	0.77884	GAA		0.413	HS2ST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028279.2	NM_012262		7	23	0	0	0	1	0	7	23					A	87538637	G	A	87538637	3	1	435	1	0	0	0	0	1	0	0	0	7362	1059	37	2	151	2	HS2ST1	1	87538637	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	158882	87538637	161711984	414	21339											
PKN2	5586	broad.mit.edu	37	chr1	89236101	89236101	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agacaaaaatagaagtcataCgaatgcagattcttcaggca	18	8	8	7	1	3	3	2	0	1	3	3	4	3	3	0	1	2	2	0	1	6	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:89236101C>T	ENST00000370521.3	+	4	930	c.571C>T	c.(571-573)Cga>Tga	p.R191*	PKN2_ENST00000370513.5_Nonsense_Mutation_p.R191*|PKN2_ENST00000370505.3_Nonsense_Mutation_p.R34*|PKN2_ENST00000316005.7_Nonsense_Mutation_p.R191*	NM_006256.2	NP_006247.1	Q16513	PKN2_HUMAN	protein kinase N2	191					apical junction assembly (GO:0043297)|apoptotic process (GO:0006915)|cell adhesion (GO:0007155)|cell cycle (GO:0007049)|cell division (GO:0051301)|epithelial cell migration (GO:0010631)|positive regulation of cytokinesis (GO:0032467)|positive regulation of mitotic cell cycle (GO:0045931)|protein phosphorylation (GO:0006468)|regulation of cell motility (GO:2000145)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	apical junction complex (GO:0043296)|centrosome (GO:0005813)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium (GO:0030027)|membrane (GO:0016020)|midbody (GO:0030496)|nucleus (GO:0005634)	ATP binding (GO:0005524)|histone deacetylase binding (GO:0042826)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|endometrium(3)|kidney(3)|large_intestine(8)|lung(15)|prostate(1)|skin(1)	33		Lung NSC(277;0.123)		all cancers(265;0.0136)|Epithelial(280;0.0301)		AGAAGTCATACGAATGCAGAT	0.363																																						ENST00000370521.3																			0				breast(2)|endometrium(3)|kidney(3)|large_intestine(8)|lung(15)|prostate(1)|skin(1)	33						c.(571-573)Cga>Tga		protein kinase N2							125	123	124					1																	89236101		1909	4127	6036	SO:0001587	stop_gained	5586				signal transduction	cytoplasm	ATP binding|histone deacetylase binding|protein kinase C activity	g.chr1:89236101C>T	U33052	CCDS714.1	1p22	2014-04-23	2004-07-01	2004-07-01	ENSG00000065243	ENSG00000065243			9406	protein-coding gene	gene with protein product	"cardiolipin-activated protein kinase Pak2"	602549	"protein kinase C-like 2"	PRKCL2		7988719, 7851406	Standard	NM_006256		Approved	PRK2, Pak-2, STK7	uc001dmn.3	Q16513	OTTHUMG00000010074	ENST00000370521.3:c.571C>T	1.37:g.89236101C>T	ENSP00000359552:p.Arg191*					PKN2_ENST00000316005.7_Nonsense_Mutation_p.R191*|PKN2_ENST00000370505.3_Nonsense_Mutation_p.R34*|PKN2_ENST00000370513.5_Nonsense_Mutation_p.R191*	p.R191*	NM_006256.2	NP_006247.1	Q16513	PKN2_HUMAN		all cancers(265;0.0136)|Epithelial(280;0.0301)	4	930	+		Lung NSC(277;0.123)	191					B4DQ21|B4DTP5|B4DVG1|D3DT24|Q08AF4|Q9H1W4	Nonsense_Mutation	SNP	ENST00000370521.3	37	c.571C>T	CCDS714.1	.	.	.	.	.	.	.	.	.	.	C	33	5.200596	0.94997	.	.	ENSG00000065243	ENST00000370521;ENST00000316005;ENST00000370505;ENST00000370513	.	.	.	5.35	4.38	0.52667	.	0.000000	0.42964	U	0.000629	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.5099	0.56000	0.3367:0.6633:0.0:0.0	.	.	.	.	X	191;191;34;191	.	ENSP00000317851:R191X	R	+	1	2	PKN2	89008689	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.208000	0.42797	1.287000	0.44583	0.655000	0.94253	CGA		0.363	PKN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027828.3	NM_006256		25	34	0	0	0	1	0	25	34					T	89236101	C	T	89236101	4	4	435	1	0	0	0	0	0	1	0	0	11980	528	19	1	585	1	PKN2	1	89236101	Nonsense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	1697464	89236101	160014520	415	21340											
PKN2	5586	broad.mit.edu	37	chr1	89250335	89250335	+	Silent	SNP	T	T	C																															ccaacaggtactttggaagtTcgtcttatgggctgccaaga																										TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:89250335T>C	ENST00000370521.3	+	7	1358	c.999T>C	c.(997-999)gtT>gtC	p.V333V	PKN2_ENST00000370513.5_Silent_p.V333V|PKN2_ENST00000544045.1_Silent_p.V7V|PKN2_ENST00000370505.3_Silent_p.V176V|PKN2_ENST00000316005.7_Silent_p.V333V	NM_006256.2	NP_006247.1	Q16513	PKN2_HUMAN	protein kinase N2	333	C2.				apical junction assembly (GO:0043297)|apoptotic process (GO:0006915)|cell adhesion (GO:0007155)|cell cycle (GO:0007049)|cell division (GO:0051301)|epithelial cell migration (GO:0010631)|positive regulation of cytokinesis (GO:0032467)|positive regulation of mitotic cell cycle (GO:0045931)|protein phosphorylation (GO:0006468)|regulation of cell motility (GO:2000145)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	apical junction complex (GO:0043296)|centrosome (GO:0005813)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium (GO:0030027)|membrane (GO:0016020)|midbody (GO:0030496)|nucleus (GO:0005634)	ATP binding (GO:0005524)|histone deacetylase binding (GO:0042826)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|endometrium(3)|kidney(3)|large_intestine(8)|lung(15)|prostate(1)|skin(1)	33		Lung NSC(277;0.123)		all cancers(265;0.0136)|Epithelial(280;0.0301)		CTTTGGAAGTTCGTCTTATGG	0.398																																						ENST00000370521.3																			0				breast(2)|endometrium(3)|kidney(3)|large_intestine(8)|lung(15)|prostate(1)|skin(1)	33						c.(997-999)gtT>gtC		protein kinase N2							69	65	66					1																	89250335		1880	4109	5989	SO:0001819	synonymous_variant	5586				signal transduction	cytoplasm	ATP binding|histone deacetylase binding|protein kinase C activity	g.chr1:89250335T>C	U33052	CCDS714.1	1p22	2014-04-23	2004-07-01	2004-07-01	ENSG00000065243	ENSG00000065243			9406	protein-coding gene	gene with protein product	"cardiolipin-activated protein kinase Pak2"	602549	"protein kinase C-like 2"	PRKCL2		7988719, 7851406	Standard	NM_006256		Approved	PRK2, Pak-2, STK7	uc001dmn.3	Q16513	OTTHUMG00000010074	ENST00000370521.3:c.999T>C	1.37:g.89250335T>C						PKN2_ENST00000544045.1_Silent_p.V7V|PKN2_ENST00000316005.7_Silent_p.V333V|PKN2_ENST00000370505.3_Silent_p.V176V|PKN2_ENST00000370513.5_Silent_p.V333V	p.V333V	NM_006256.2	NP_006247.1	Q16513	PKN2_HUMAN		all cancers(265;0.0136)|Epithelial(280;0.0301)	7	1358	+		Lung NSC(277;0.123)	333			C2.		B4DQ21|B4DTP5|B4DVG1|D3DT24|Q08AF4|Q9H1W4	Silent	SNP	ENST00000370521.3	37	c.999T>C	CCDS714.1																																																																																				0.398	PKN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027828.3	NM_006256		24	30	0	0	0	1	0	24	30					C	89250335	T	C	89250335	2	2	435	1	0	0	0	0	0	0	0	1	11980	1770	62	4		4	PKN2	1	89250335	Silent	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	14234	89250335	160000286	416	21341	108	2									
PKN2	5586	broad.mit.edu	37	chr1	89250336	89250336	+	Missense_Mutation	SNP	C	C	T																															caacaggtactttggaagttCgtcttatgggctgccaagat																										TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:89250336C>T	ENST00000370521.3	+	7	1359	c.1000C>T	c.(1000-1002)Cgt>Tgt	p.R334C	PKN2_ENST00000370513.5_Missense_Mutation_p.R334C|PKN2_ENST00000544045.1_Missense_Mutation_p.R8C|PKN2_ENST00000370505.3_Missense_Mutation_p.R177C|PKN2_ENST00000316005.7_Missense_Mutation_p.R334C	NM_006256.2	NP_006247.1	Q16513	PKN2_HUMAN	protein kinase N2	334	C2.				apical junction assembly (GO:0043297)|apoptotic process (GO:0006915)|cell adhesion (GO:0007155)|cell cycle (GO:0007049)|cell division (GO:0051301)|epithelial cell migration (GO:0010631)|positive regulation of cytokinesis (GO:0032467)|positive regulation of mitotic cell cycle (GO:0045931)|protein phosphorylation (GO:0006468)|regulation of cell motility (GO:2000145)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	apical junction complex (GO:0043296)|centrosome (GO:0005813)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium (GO:0030027)|membrane (GO:0016020)|midbody (GO:0030496)|nucleus (GO:0005634)	ATP binding (GO:0005524)|histone deacetylase binding (GO:0042826)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|endometrium(3)|kidney(3)|large_intestine(8)|lung(15)|prostate(1)|skin(1)	33		Lung NSC(277;0.123)		all cancers(265;0.0136)|Epithelial(280;0.0301)		TTTGGAAGTTCGTCTTATGGG	0.398																																						ENST00000370521.3																			0				breast(2)|endometrium(3)|kidney(3)|large_intestine(8)|lung(15)|prostate(1)|skin(1)	33						c.(1000-1002)Cgt>Tgt		protein kinase N2							70	66	67					1																	89250336		1879	4110	5989	SO:0001583	missense	5586				signal transduction	cytoplasm	ATP binding|histone deacetylase binding|protein kinase C activity	g.chr1:89250336C>T	U33052	CCDS714.1	1p22	2014-04-23	2004-07-01	2004-07-01	ENSG00000065243	ENSG00000065243			9406	protein-coding gene	gene with protein product	"cardiolipin-activated protein kinase Pak2"	602549	"protein kinase C-like 2"	PRKCL2		7988719, 7851406	Standard	NM_006256		Approved	PRK2, Pak-2, STK7	uc001dmn.3	Q16513	OTTHUMG00000010074	ENST00000370521.3:c.1000C>T	1.37:g.89250336C>T	ENSP00000359552:p.Arg334Cys					PKN2_ENST00000544045.1_Missense_Mutation_p.R8C|PKN2_ENST00000316005.7_Missense_Mutation_p.R334C|PKN2_ENST00000370505.3_Missense_Mutation_p.R177C|PKN2_ENST00000370513.5_Missense_Mutation_p.R334C	p.R334C	NM_006256.2	NP_006247.1	Q16513	PKN2_HUMAN		all cancers(265;0.0136)|Epithelial(280;0.0301)	7	1359	+		Lung NSC(277;0.123)	334			C2.		B4DQ21|B4DTP5|B4DVG1|D3DT24|Q08AF4|Q9H1W4	Missense_Mutation	SNP	ENST00000370521.3	37	c.1000C>T	CCDS714.1	.	.	.	.	.	.	.	.	.	.	C	18.45	3.627267	0.66901	.	.	ENSG00000065243	ENST00000370521;ENST00000316005;ENST00000370505;ENST00000370513;ENST00000544045	T;T;T;T;T	0.22539	1.95;1.95;1.95;1.95;1.95	5.57	5.57	0.84162	C2 calcium-dependent membrane targeting (1);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.42172	U	0.000741	T	0.42245	0.1194	M	0.82823	2.61	0.80722	D	1	P;P;D;D	0.89917	0.805;0.688;1.0;1.0	B;B;D;D	0.83275	0.11;0.11;0.996;0.981	T	0.31861	-0.9928	10	0.54805	T	0.06	.	14.6436	0.68742	0.1796:0.8204:0.0:0.0	.	334;334;334;334	B4DTP5;E7ESL7;Q16513;B1AL79	.;.;PKN2_HUMAN;.	C	334;334;177;334;8	ENSP00000359552:R334C;ENSP00000317851:R334C;ENSP00000359536:R177C;ENSP00000359544:R334C;ENSP00000439643:R8C	ENSP00000317851:R334C	R	+	1	0	PKN2	89022924	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.991000	0.56973	2.785000	0.95823	0.591000	0.81541	CGT		0.398	PKN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027828.3	NM_006256		25	30	0	0	0	1	0	25	30					T	89250336	C	T	89250336	3	4	435	1	0	0	0	0	1	0	0	0	11980	884	31	2	1026	2	PKN2	1	89250336	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	1	89250336	160000285	417	21342	108	2									
RBMXL1	494115	broad.mit.edu	37	chr1	89449362	89449362	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaggtgacaaaagcaaatcCtcttgatttgttggtttcac	13	13	8	7	0	2	2	1	2	1	0	3	2	3	2	1	2	1	3	1	2	4	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:89449362C>T	ENST00000321792.5	-	2	575	c.148G>A	c.(148-150)Gga>Aga	p.G50R	CCBL2_ENST00000260508.4_Intron|RBMXL1_ENST00000399794.2_Missense_Mutation_p.G50R|CCBL2_ENST00000370491.3_Intron|CCBL2_ENST00000370485.2_Intron|CCBL2_ENST00000446900.2_Intron|RBMXL1_ENST00000413769.1_5'UTR	NM_019610.5	NP_062556.2	Q96E39	RMXL1_HUMAN	RNA binding motif protein, X-linked-like 1	50	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)										AAAGCAAATCCTCTTGATTTG	0.408											OREG0013593	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000399794.2																			0											c.(148-150)Gga>Aga		RNA binding motif protein, X-linked-like 1							189	181	184					1																	89449362		2203	4300	6503	SO:0001583	missense	494115						nucleotide binding|RNA binding	g.chr1:89449362C>T	BC012942	CCDS716.1	1p22.2	2013-02-12	2007-01-04	2007-01-04	ENSG00000213516	ENSG00000213516		"RNA binding motif (RRM) containing"	25073	protein-coding gene	gene with protein product	"kynurenine aminotransferase III"					10441733	Standard	NM_019610		Approved	KAT3	uc001dms.3	Q96E39	OTTHUMG00000010661	ENST00000321792.5:c.148G>A	1.37:g.89449362C>T	ENSP00000318415:p.Gly50Arg		OREG0013593	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1267	CCBL2_ENST00000370491.3_Intron|RBMXL1_ENST00000413769.1_5'UTR|CCBL2_ENST00000370485.2_Intron|CCBL2_ENST00000446900.2_Intron|CCBL2_ENST00000260508.4_Intron|RBMXL1_ENST00000321792.5_Missense_Mutation_p.G50R	p.G50R	NM_001162536.2	NP_001156008.1	Q96E39	RBMXL_HUMAN			3	863	-			50			RRM.			Missense_Mutation	SNP	ENST00000321792.5	37	c.148G>A	CCDS716.1	.	.	.	.	.	.	.	.	.	.	C	25.8	4.678625	0.88542	.	.	ENSG00000213516	ENST00000321792;ENST00000399794	D;D	0.83250	-1.7;-1.7	1.59	1.59	0.23543	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.64402	U	0.000001	D	0.88592	0.6478	M	0.90870	3.155	0.54753	D	0.999983	D	0.89917	1.0	D	0.97110	1.0	D	0.87731	0.2579	10	0.87932	D	0	-6.9986	6.5804	0.22591	0.0:1.0:0.0:0.0	.	50	Q96E39	RBMXL_HUMAN	R	50	ENSP00000318415:G50R;ENSP00000446099:G50R	ENSP00000318415:G50R	G	-	1	0	RBMXL1	89221950	1.000000	0.71417	0.998000	0.56505	0.968000	0.65278	4.892000	0.63193	0.884000	0.36064	0.306000	0.20318	GGA		0.408	RBMXL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029403.3	NM_019610		63	185	0	0	0	1	0	63	185					T	89449362	C	T	89449362	3	4	435	1	0	0	0	0	1	0	0	0	13153	690	24	3	1028	3	RBMXL1	1	89449362	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	199026	89449362	159801259	418	21343											
GBP1	2633	broad.mit.edu	37	chr1	89522750	89522750	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgggccaaggccaggactgcGttctccatgcacggcagatc	8	7	13	13	2	1	1	0	0	1	1	3	2	1	2	3	4	2	3	3	4	1	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:89522750G>A	ENST00000370473.4	-	7	1161	c.942C>T	c.(940-942)aaC>aaT	p.N314N	GBP1_ENST00000484970.1_5'Flank	NM_002053.2	NP_002044.2	P32455	GBP1_HUMAN	guanylate binding protein 1, interferon-inducible	314					cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)	cytosol (GO:0005829)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)			endometrium(7)|kidney(4)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	30		Lung NSC(277;0.123)		all cancers(265;0.0156)|Epithelial(280;0.0291)		CCAGGACTGCGTTCTCCATGC	0.532																																						ENST00000370473.4																			0				endometrium(7)|kidney(4)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	30						c.(940-942)aaC>aaT		guanylate binding protein 1, interferon-inducible							116	99	105					1																	89522750		2203	4300	6503	SO:0001819	synonymous_variant	2633				interferon-gamma-mediated signaling pathway	plasma membrane	GTP binding|GTPase activity	g.chr1:89522750G>A	BC002666	CCDS718.1	1p22.2	2011-03-09	2011-03-09		ENSG00000117228	ENSG00000117228			4182	protein-coding gene	gene with protein product		600411	"guanylate binding protein 1, interferon-inducible, 67kDa"			7518790	Standard	NM_002053		Approved		uc001dmx.2	P32455	OTTHUMG00000010614	ENST00000370473.4:c.942C>T	1.37:g.89522750G>A							p.N314N	NM_002053.2	NP_002044.2	P32455	GBP1_HUMAN		all cancers(265;0.0156)|Epithelial(280;0.0291)	7	1161	-		Lung NSC(277;0.123)	314					D3DT26|Q5T8M1	Silent	SNP	ENST00000370473.4	37	c.942C>T	CCDS718.1																																																																																				0.532	GBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029289.3	NM_002053		22	35	0	0	0	1	0	22	35					A	89522750	G	A	89522750	2	1	435	1	0	0	0	0	0	0	0	1	6273	1136	40	1		1	GBP1	1	89522750	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	73388	89522750	159727871	419	21344											
GBP7	388646	broad.mit.edu	37	chr1	89597932	89597932	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tagcagccccaggtagtgctGcaataaatatactgccagcc	12	8	9	12	0	0	0	0	0	0	0	0	0	0	0	4	1	7	4	4	1	7	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:89597932G>A	ENST00000294671.2	-	11	1955	c.1817C>T	c.(1816-1818)gCa>gTa	p.A606V		NM_207398.2	NP_997281.2	Q8N8V2	GBP7_HUMAN	guanylate binding protein 7	606						membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		Lung NSC(277;0.0908)		all cancers(265;0.00835)|Epithelial(280;0.0322)		AGGTAGTGCTGCAATAAATAT	0.378																																						ENST00000294671.2																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(1816-1818)gCa>gTa		guanylate binding protein 7							94	94	94					1																	89597932		2203	4300	6503	SO:0001583	missense	388646					integral to membrane	GTP binding|GTPase activity	g.chr1:89597932G>A	AK096141	CCDS720.1	1p22.2	2008-02-05			ENSG00000213512	ENSG00000213512			29606	protein-coding gene	gene with protein product		612468					Standard	NM_207398		Approved	FLJ38822, GBP4L	uc001dna.2	Q8N8V2	OTTHUMG00000010659	ENST00000294671.2:c.1817C>T	1.37:g.89597932G>A	ENSP00000294671:p.Ala606Val						p.A606V	NM_207398.2	NP_997281.2	Q8N8V2	GBP7_HUMAN		all cancers(265;0.00835)|Epithelial(280;0.0322)	11	1955	-		Lung NSC(277;0.0908)	606						Missense_Mutation	SNP	ENST00000294671.2	37	c.1817C>T	CCDS720.1	.	.	.	.	.	.	.	.	.	.	G	3.571	-0.087703	0.07097	.	.	ENSG00000213512	ENST00000294671	T	0.61392	0.11	4.11	-5.37	0.02681	.	1.499430	0.04297	N	0.346596	T	0.10035	0.0246	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.10450	0.005	T	0.04752	-1.0929	10	0.08837	T	0.75	.	5.7055	0.17905	0.5539:0.0:0.3186:0.1275	.	606	Q8N8V2	GBP7_HUMAN	V	606	ENSP00000294671:A606V	ENSP00000294671:A606V	A	-	2	0	GBP7	89370520	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.328000	0.02680	-0.962000	0.03604	0.462000	0.41574	GCA		0.378	GBP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029401.1	NM_207398		23	46	0	0	0	1	0	23	46					A	89597932	G	A	89597932	3	1	435	1	0	0	0	0	1	0	0	0	6279	1319	46	3	103	3	GBP7	1	89597932	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	75182	89597932	159652689	420	21345											
GBP4	115361	broad.mit.edu	37	chr1	89654413	89654413	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccgcttaagctcagcctggCaatatttggcagatgcctct	8	11	10	12	1	2	1	1	0	1	1	2	1	2	1	3	2	3	4	3	2	3	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:89654413C>T	ENST00000355754.6	-	8	1359	c.1262G>A	c.(1261-1263)tGc>tAc	p.C421Y		NM_052941.4	NP_443173.2	Q96PP9	GBP4_HUMAN	guanylate binding protein 4	421						cytoplasm (GO:0005737)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(19)|skin(1)|stomach(2)|urinary_tract(1)	33				all cancers(265;0.00723)|Epithelial(280;0.0291)		CTCAGCCTGGCAATATTTGGC	0.428																																						ENST00000355754.6																			0				central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(19)|skin(1)|stomach(2)|urinary_tract(1)	33						c.(1261-1263)tGc>tAc		guanylate binding protein 4							199	205	203					1																	89654413		2203	4300	6503	SO:0001583	missense	115361					cytoplasm	GTP binding|GTPase activity	g.chr1:89654413C>T	AF288814	CCDS721.1	1p22.2	2008-02-05			ENSG00000162654	ENSG00000162654			20480	protein-coding gene	gene with protein product		612466				16689661	Standard	NM_052941		Approved	Mpa2	uc001dnb.3	Q96PP9	OTTHUMG00000010663	ENST00000355754.6:c.1262G>A	1.37:g.89654413C>T	ENSP00000359490:p.Cys421Tyr						p.C421Y	NM_052941.4	NP_443173.2	Q96PP9	GBP4_HUMAN		all cancers(265;0.00723)|Epithelial(280;0.0291)	8	1359	-			421					B2R630|Q05D63|Q6NSL0|Q86T99	Missense_Mutation	SNP	ENST00000355754.6	37	c.1262G>A	CCDS721.1	.	.	.	.	.	.	.	.	.	.	C	15.74	2.923188	0.52653	.	.	ENSG00000162654	ENST00000355754	D	0.83075	-1.68	4.73	2.84	0.33178	Guanylate-binding protein, C-terminal (3);	0.169084	0.52532	N	0.000069	D	0.86414	0.5927	M	0.90814	3.15	0.20489	N	0.999891	D	0.64830	0.994	D	0.63283	0.913	T	0.79427	-0.1808	10	0.66056	D	0.02	.	8.2277	0.31579	0.0:0.7407:0.1697:0.0896	.	421	Q96PP9	GBP4_HUMAN	Y	421	ENSP00000359490:C421Y	ENSP00000359490:C421Y	C	-	2	0	GBP4	89427001	0.655000	0.27376	0.018000	0.16275	0.916000	0.54674	1.660000	0.37397	0.686000	0.31488	0.655000	0.94253	TGC		0.428	GBP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029409.1	NM_052941		71	99	0	0	0	1	0	71	99					T	89654413	C	T	89654413	3	4	435	1	0	0	0	0	1	0	0	0	6276	710	25	3	676	3	GBP4	1	89654413	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	56481	89654413	159596208	421	21346											
GBP5	115362	broad.mit.edu	37	chr1	89730602	89730602	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	attctctatgcaaggcagatCcccactgctgatggcattga	10	11	9	11	0	1	3	0	2	1	1	3	3	2	3	2	2	2	4	2	2	2	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:89730602C>T	ENST00000370459.3	-	7	1043	c.916G>A	c.(916-918)Gat>Aat	p.D306N	GBP5_ENST00000471171.1_5'Flank|RP4-620F22.2_ENST00000437128.1_RNA|GBP5_ENST00000343435.5_Missense_Mutation_p.D306N			Q96PP8	GBP5_HUMAN	guanylate binding protein 5	306	GTPase domain (Globular). {ECO:0000250}.					cytoplasm (GO:0005737)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)			breast(1)|endometrium(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)	24				all cancers(265;0.00784)|Epithelial(280;0.0286)		CAAGGCAGATCCCCACTGCTG	0.463																																						ENST00000343435.5																			0				breast(1)|endometrium(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)	24						c.(916-918)Gat>Aat		guanylate binding protein 5							95	84	87					1																	89730602		2203	4300	6503	SO:0001583	missense	115362					plasma membrane	GTP binding|GTPase activity	g.chr1:89730602C>T	AF430642	CCDS722.1	1p22.2	2008-02-05			ENSG00000154451	ENSG00000154451			19895	protein-coding gene	gene with protein product		611467					Standard	NM_052942		Approved		uc001dnd.3	Q96PP8	OTTHUMG00000010006	ENST00000370459.3:c.916G>A	1.37:g.89730602C>T	ENSP00000359488:p.Asp306Asn					GBP5_ENST00000370459.3_Missense_Mutation_p.D306N|RP4-620F22.2_ENST00000437128.1_RNA|GBP5_ENST00000481145.1_5'UTR	p.D306N	NM_001134486.2|NM_052942.3	NP_001127958.1|NP_443174.1	Q96PP8	GBP5_HUMAN		all cancers(265;0.00784)|Epithelial(280;0.0286)	8	1452	-			306					B2RCE1|Q86TM5	Missense_Mutation	SNP	ENST00000370459.3	37	c.916G>A	CCDS722.1	.	.	.	.	.	.	.	.	.	.	C	3.781	-0.045596	0.07452	.	.	ENSG00000154451	ENST00000343435;ENST00000370459;ENST00000443807	T;T;T	0.02050	4.48;4.48;4.48	4.96	-5.55	0.02536	Guanylate-binding protein, C-terminal (3);	1.014320	0.07852	N	0.964883	T	0.00637	0.0021	L	0.49571	1.57	0.09310	N	1	B	0.14438	0.01	B	0.20767	0.031	T	0.47623	-0.9103	10	0.34782	T	0.22	-0.7395	0.6697	0.00856	0.211:0.1861:0.3069:0.2961	.	306	Q96PP8	GBP5_HUMAN	N	306	ENSP00000340396:D306N;ENSP00000359488:D306N;ENSP00000403010:D306N	ENSP00000340396:D306N	D	-	1	0	GBP5	89503190	0.000000	0.05858	0.155000	0.22561	0.034000	0.12701	-1.670000	0.01956	-1.197000	0.02673	-0.265000	0.10407	GAT		0.463	GBP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027700.1	NM_052942		18	42	0	0	0	1	0	18	42					T	89730602	C	T	89730602	3	4	435	1	0	0	0	0	1	0	0	0	6277	855	30	3	864	3	GBP5	1	89730602	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	76189	89730602	159520019	422	21347											
GBP6	163351	broad.mit.edu	37	chr1	89847452	89847452	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gagctgctggacatgcatgcGgcctgtgagagggaagccat	9	7	16	9	1	0	1	0	1	0	1	0	5	0	3	2	3	5	3	2	3	1	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:89847452G>A	ENST00000370456.4	+	7	1164	c.1071G>A	c.(1069-1071)gcG>gcA	p.A357A	GBP6_ENST00000535065.1_Silent_p.A227A	NM_198460.2	NP_940862.2	Q6ZN66	GBP6_HUMAN	guanylate binding protein family, member 6	357					cellular response to interferon-gamma (GO:0071346)|defense response to bacterium (GO:0042742)|immune response (GO:0006955)	extracellular vesicular exosome (GO:0070062)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	42		Lung NSC(277;0.0908)		all cancers(265;0.0108)|Epithelial(280;0.0398)		ACATGCATGCGGCCTGTGAGA	0.537																																						ENST00000370456.4																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	42						c.(1069-1071)gcG>gcA		guanylate binding protein family, member 6							84	75	78					1																	89847452		2203	4300	6503	SO:0001819	synonymous_variant	163351						GTP binding|GTPase activity	g.chr1:89847452G>A	BX537949	CCDS723.1	1p22	2008-02-05			ENSG00000183347	ENSG00000183347			25395	protein-coding gene	gene with protein product		612467					Standard	NM_198460		Approved	DKFZp686G0786	uc001dnf.2	Q6ZN66	OTTHUMG00000010123	ENST00000370456.4:c.1071G>A	1.37:g.89847452G>A						GBP6_ENST00000535065.1_Silent_p.A227A	p.A357A	NM_198460.2	NP_940862.2	Q6ZN66	GBP6_HUMAN		all cancers(265;0.0108)|Epithelial(280;0.0398)	7	1164	+		Lung NSC(277;0.0908)	357					A2RRM3|Q6ZN86|Q7Z3F0	Silent	SNP	ENST00000370456.4	37	c.1071G>A	CCDS723.1																																																																																				0.537	GBP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028001.1	NM_198460		9	38	0	0	0	1	0	9	38					A	89847452	G	A	89847452	2	1	435	1	0	0	0	0	0	0	0	1	6278	1103	39	2		2	GBP6	1	89847452	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	116850	89847452	159403169	423	21348											
LRRC8B	23507	broad.mit.edu	37	chr1	90049500	90049500	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgcatctttttatgctcaacGgtcttccagacaatgtcttt	8	17	6	10	1	4	1	1	0	3	1	5	1	5	1	1	1	3	2	1	1	3	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:90049500G>A	ENST00000330947.2	+	5	1651	c.1291G>A	c.(1291-1293)Ggt>Agt	p.G431S	LRRC8B_ENST00000439853.1_Missense_Mutation_p.G431S|RP5-1007M22.2_ENST00000443562.1_RNA|LRRC8B_ENST00000358200.4_Missense_Mutation_p.G431S	NM_001134476.1	NP_001127948.1	Q6P9F7	LRC8B_HUMAN	leucine rich repeat containing 8 family, member B	431					ion transport (GO:0006811)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	26		all_lung(203;0.17)		all cancers(265;0.00515)|Epithelial(280;0.0241)		TATGCTCAACGGTCTTCCAGA	0.433																																						ENST00000330947.2																			0				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	26						c.(1291-1293)Ggt>Agt		leucine rich repeat containing 8 family, member B							70	72	72					1																	90049500		2203	4300	6503	SO:0001583	missense	23507					integral to membrane		g.chr1:90049500G>A	AF385436	CCDS724.1	1p22.2	2008-02-05			ENSG00000197147	ENSG00000197147			30692	protein-coding gene	gene with protein product	"T cell activation leucine repeat rich protein"	612888				9039502	Standard	NM_015350		Approved	TA-LRRP, KIAA0231	uc001dni.3	Q6P9F7	OTTHUMG00000010129	ENST00000330947.2:c.1291G>A	1.37:g.90049500G>A	ENSP00000332674:p.Gly431Ser					RP5-1007M22.2_ENST00000443562.1_RNA|LRRC8B_ENST00000358200.4_Missense_Mutation_p.G431S|LRRC8B_ENST00000439853.1_Missense_Mutation_p.G431S	p.G431S	NM_001134476.1	NP_001127948.1	Q6P9F7	LRC8B_HUMAN		all cancers(265;0.00515)|Epithelial(280;0.0241)	5	1651	+		all_lung(203;0.17)	431					D3DT28|Q6UY21|Q8N106|Q92627	Missense_Mutation	SNP	ENST00000330947.2	37	c.1291G>A	CCDS724.1	.	.	.	.	.	.	.	.	.	.	G	17.08	3.298667	0.60195	.	.	ENSG00000197147	ENST00000330947;ENST00000358200;ENST00000439853	T;T;T	0.18174	2.23;2.23;2.23	5.3	5.3	0.74995	.	0.000000	0.85682	D	0.000000	T	0.23094	0.0558	N	0.25992	0.78	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.03608	-1.1020	10	0.51188	T	0.08	.	19.3136	0.94202	0.0:0.0:1.0:0.0	.	431	Q6P9F7	LRC8B_HUMAN	S	431	ENSP00000332674:G431S;ENSP00000350933:G431S;ENSP00000400704:G431S	ENSP00000332674:G431S	G	+	1	0	LRRC8B	89822088	1.000000	0.71417	0.957000	0.39632	0.306000	0.27790	9.799000	0.99117	2.629000	0.89072	0.655000	0.94253	GGT		0.433	LRRC8B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028008.1	NM_015350		21	44	0	0	0	1	0	21	44					A	90049500	G	A	90049500	3	1	435	1	0	0	0	0	1	0	0	0	9022	1116	39	2	1293	2	LRRC8B	1	90049500	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	202048	90049500	159201121	424	21349											
LRRC8C	84230	broad.mit.edu	37	chr1	90179785	90179785	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	attctctctatcaaaagcaaCgtttccaaaatccctcaggc	13	11	4	13	1	4	0	2	0	2	0	7	0	6	0	2	1	2	2	2	1	6	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:90179785C>T	ENST00000370454.4	+	3	1911	c.1656C>T	c.(1654-1656)aaC>aaT	p.N552N	RP11-302M6.4_ENST00000370453.5_Intron|LRRC8C_ENST00000479252.1_Intron	NM_032270.4	NP_115646	Q8TDW0	LRC8C_HUMAN	leucine rich repeat containing 8 family, member C	552					fat cell differentiation (GO:0045444)|ion transport (GO:0006811)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|large_intestine(5)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	28		all_lung(203;0.126)		all cancers(265;0.00756)|Epithelial(280;0.0313)		TCAAAAGCAACGTTTCCAAAA	0.428																																						ENST00000370454.4																			0				breast(1)|central_nervous_system(1)|large_intestine(5)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	28						c.(1654-1656)aaC>aaT		leucine rich repeat containing 8 family, member C							71	74	73					1																	90179785		2203	4300	6503	SO:0001819	synonymous_variant	84230					endoplasmic reticulum membrane|integral to membrane		g.chr1:90179785C>T		CCDS725.1	1p22.2	2011-02-10			ENSG00000171488	ENSG00000171488			25075	protein-coding gene	gene with protein product	"hypothetical protein AD158"	612889				11230166	Standard	NM_032270		Approved	AD158	uc001dnl.4	Q8TDW0	OTTHUMG00000010305	ENST00000370454.4:c.1656C>T	1.37:g.90179785C>T						RP11-302M6.4_ENST00000370453.5_Intron|LRRC8C_ENST00000479252.1_Intron	p.N552N	NM_032270.4	NP_115646.2	Q8TDW0	LRC8C_HUMAN		all cancers(265;0.00756)|Epithelial(280;0.0313)	3	1911	+		all_lung(203;0.126)	552					B3KXS9|Q29RV6|Q9H075	Silent	SNP	ENST00000370454.4	37	c.1656C>T	CCDS725.1																																																																																				0.428	LRRC8C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028435.2	NM_032270		25	51	0	0	0	1	0	25	51					T	90179785	C	T	90179785	2	4	435	1	0	0	0	0	0	0	0	1	9023	535	19	1		1	LRRC8C	1	90179785	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	130285	90179785	159070836	425	21350											
LRRC8D	55144	broad.mit.edu	37	chr1	90399036	90399036	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agaagaaagatccaacaggtCgaaaaacaaacttggatttt	19	8	8	6	1	0	3	0	0	0	3	2	5	1	4	1	2	3	0	1	2	6	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:90399036C>T	ENST00000337338.5	+	3	816	c.409C>T	c.(409-411)Cga>Tga	p.R137*	LRRC8D_ENST00000394593.3_Nonsense_Mutation_p.R137*	NM_001134479.1	NP_001127951.1	Q7L1W4	LRC8D_HUMAN	leucine rich repeat containing 8 family, member D	137					ion transport (GO:0006811)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(10)|ovary(2)|skin(1)	29		all_lung(203;0.0894)|Lung NSC(277;0.227)		all cancers(265;0.0109)|Epithelial(280;0.0427)		TCCAACAGGTCGAAAAACAAA	0.413																																						ENST00000337338.5																			0				breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(10)|ovary(2)|skin(1)	29						c.(409-411)Cga>Tga		leucine rich repeat containing 8 family, member D							62	62	62					1																	90399036		2203	4300	6503	SO:0001587	stop_gained	55144					integral to membrane	protein binding	g.chr1:90399036C>T	AK001332	CCDS726.1	1p22.2	2008-02-05	2005-06-29	2005-06-29	ENSG00000171492	ENSG00000171492			16992	protein-coding gene	gene with protein product		612890	"leucine rich repeat containing 5"	LRRC5			Standard	NM_018103		Approved	FLJ10470	uc001dnn.3	Q7L1W4	OTTHUMG00000010583	ENST00000337338.5:c.409C>T	1.37:g.90399036C>T	ENSP00000338887:p.Arg137*					LRRC8D_ENST00000394593.3_Nonsense_Mutation_p.R137*	p.R137*	NM_001134479.1	NP_001127951.1	Q7L1W4	LRC8D_HUMAN		all cancers(265;0.0109)|Epithelial(280;0.0427)	3	816	+		all_lung(203;0.0894)|Lung NSC(277;0.227)	137					D3DT29|Q6UWB2|Q9NVW3	Nonsense_Mutation	SNP	ENST00000337338.5	37	c.409C>T	CCDS726.1	.	.	.	.	.	.	.	.	.	.	C	17.24	3.339757	0.60963	.	.	ENSG00000171492	ENST00000337338;ENST00000394593;ENST00000527156;ENST00000441269	.	.	.	6.07	3.15	0.36227	.	0.180808	0.37715	N	0.001961	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.0625	0.71967	0.4913:0.5087:0.0:0.0	.	.	.	.	X	137	.	.	R	+	1	2	LRRC8D	90171624	0.997000	0.39634	0.993000	0.49108	0.933000	0.57130	2.830000	0.48136	0.417000	0.25871	-1.028000	0.02416	CGA		0.413	LRRC8D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029203.2	NM_018103		24	21	0	0	0	1	0	24	21					T	90399036	C	T	90399036	4	4	435	1	0	0	0	0	0	1	0	0	9024	876	31	2	411	2	LRRC8D	1	90399036	Nonsense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	219251	90399036	158851585	426	21351											
ZNF326	284695	broad.mit.edu	37	chr1	90487883	90487883	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aataatccaatagtgaaggcGcgatatgaacgttttgttaa	15	12	9	5	3	0	2	0	2	0	0	1	3	1	2	1	1	1	2	1	1	8	6	rs146247512	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:90487883G>A	ENST00000340281.4	+	11	1523	c.1380G>A	c.(1378-1380)gcG>gcA	p.A460A	ZNF326_ENST00000455342.2_Silent_p.A254A|ZNF326_ENST00000370447.3_Silent_p.A371A	NM_182976.2	NP_892021.1	Q5BKZ1	ZN326_HUMAN	zinc finger protein 326	460					mRNA processing (GO:0006397)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of DNA-templated transcription, elongation (GO:0032784)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	DBIRD complex (GO:0044609)|nuclear matrix (GO:0016363)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|RNA polymerase II core binding (GO:0000993)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(7)|ovary(1)	25		all_lung(203;0.0116)|Lung NSC(277;0.0417)		all cancers(265;0.00728)|Epithelial(280;0.0265)		TAGTGAAGGCGCGATATGAAC	0.328													g|||	5	0.000998403	0	0	5008	,	,		17575	0		0.005	False		,,,				2504	0					ENST00000340281.4																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(7)|ovary(1)	25						c.(1378-1380)gcG>gcA		zinc finger protein 326		A		0,4406		0,0,2203	195	215	209		1380	-10.5	0.4	1	dbSNP_134	209	11,8587	8.4+/-32.0	0,11,4288	no	coding-synonymous	ZNF326	NM_182976.2		0,11,6491	AA,AG,GG		0.1279,0.0,0.0846		460/583	90487883	11,12993	2203	4299	6502	SO:0001819	synonymous_variant	284695				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear matrix	DNA binding	g.chr1:90487883G>A	BC013102	CCDS727.1, CCDS728.1	1p22	2012-04-19			ENSG00000162664	ENSG00000162664		"Zinc fingers, C2H2-type"	14104	protein-coding gene	gene with protein product	"ZNF-protein interacting with nuclear mRNPs and DBC1"	614601				22446626	Standard	NM_182976		Approved	Zfp326, ZAN75, FLJ20403, ZIRD	uc001dnq.2	Q5BKZ1	OTTHUMG00000010675	ENST00000340281.4:c.1380G>A	1.37:g.90487883G>A						ZNF326_ENST00000370447.2_Silent_p.A371A|ZNF326_ENST00000455342.2_Silent_p.A254A	p.A460A	NM_182976.2	NP_892021.1	Q5BKZ1	ZN326_HUMAN		all cancers(265;0.00728)|Epithelial(280;0.0265)	11	1523	+		all_lung(203;0.0116)|Lung NSC(277;0.0417)	460					A8MYX1|B4DLN0|B4E179|Q5VW93|Q5VW94|Q5VW96|Q5VW97|Q6NSA2|Q7Z638|Q7Z6C2	Silent	SNP	ENST00000340281.4	37	c.1380G>A	CCDS727.1																																																																																				0.328	ZNF326-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029428.2	NM_181781		38	154	0	0	0	1	0	38	154					A	90487883	G	A	90487883	2	1	435	1	0	0	0	0	0	0	0	1	17843	1074	38	1		1	ZNF326	1	90487883	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	88847	90487883	158762738	427	21352											
CDC7	8317	broad.mit.edu	37	chr1	91978651	91978651	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tttggtttggcccaaggaacCcatgatacgaaaatagagct	13	10	10	8	1	0	2	0	1	0	1	0	4	0	3	2	3	3	2	2	3	6	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:91978651C>T	ENST00000428239.1	+	7	868	c.609C>T	c.(607-609)acC>acT	p.T203T	CDC7_ENST00000430031.2_Silent_p.T175T|CDC7_ENST00000234626.6_Silent_p.T203T	NM_001134420.1	NP_001127892.1	O00311	CDC7_HUMAN	cell division cycle 7	203	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell cycle phase transition (GO:0044770)|cell division (GO:0051301)|DNA replication (GO:0006260)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|positive regulation of cell proliferation (GO:0008284)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)	cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|microtubule cytoskeleton (GO:0015630)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|stomach(2)	23		all_lung(203;0.0165)|Lung NSC(277;0.0562)		all cancers(265;0.00108)|Epithelial(280;0.0184)|KIRC - Kidney renal clear cell carcinoma(1967;0.124)		CCCAAGGAACCCATGATACGA	0.363																																						ENST00000428239.1																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|stomach(2)	23						c.(607-609)acC>acT		cell division cycle 7							62	65	64					1																	91978651		2203	4300	6503	SO:0001819	synonymous_variant	8317				cell cycle checkpoint|cell division|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|positive regulation of cell proliferation|regulation of S phase	cytoplasm|nucleoplasm	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr1:91978651C>T	AF015592	CCDS734.1	1p22	2013-01-17	2013-01-17	2003-07-23	ENSG00000097046	ENSG00000097046			1745	protein-coding gene	gene with protein product		603311	"CDC7 (cell division cycle 7, S. cerevisiae, homolog)-like 1", "CDC7 cell division cycle 7 (S. cerevisiae)", "cell division cycle 7 (S. cerevisiae)", "cell division cycle 7 homolog (S. cerevisiae)"	CDC7L1		9405610, 9250678	Standard	NM_003503		Approved	Hsk1, huCdc7, HsCdc7	uc001dof.3	O00311	OTTHUMG00000047810	ENST00000428239.1:c.609C>T	1.37:g.91978651C>T						CDC7_ENST00000430031.2_Silent_p.T175T|CDC7_ENST00000234626.6_Silent_p.T203T	p.T203T	NM_001134420.1	NP_001127892.1	O00311	CDC7_HUMAN		all cancers(265;0.00108)|Epithelial(280;0.0184)|KIRC - Kidney renal clear cell carcinoma(1967;0.124)	7	868	+		all_lung(203;0.0165)|Lung NSC(277;0.0562)	203			Protein kinase.		D3DT31|O00558|Q5T5U5	Silent	SNP	ENST00000428239.1	37	c.609C>T	CCDS734.1																																																																																				0.363	CDC7-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027928.1	NM_003503		28	37	0	0	0	1	0	28	37					T	91978651	C	T	91978651	2	4	435	1	0	0	0	0	0	0	0	1	3084	610	22	3		3	CDC7	1	91978651	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	1490768	91978651	157271970	428	21353											
TGFBR3	7049	broad.mit.edu	37	chr1	92193276	92193276	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acccagttgacagactttttGcacttcaagatcaggatgag	12	11	9	9	0	2	4	2	2	0	2	2	5	2	5	1	1	1	2	1	1	1	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:92193276G>A	ENST00000525962.1	-	6	886	c.825C>T	c.(823-825)tgC>tgT	p.C275C	TGFBR3_ENST00000212355.4_Silent_p.C275C|TGFBR3_ENST00000468996.2_5'Flank|TGFBR3_ENST00000370399.2_Silent_p.C275C			Q03167	TGBR3_HUMAN	transforming growth factor, beta receptor III	275					blastocyst development (GO:0001824)|blood vessel development (GO:0001568)|BMP signaling pathway (GO:0030509)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac muscle cell proliferation (GO:0060038)|cell growth (GO:0016049)|cell migration (GO:0016477)|definitive erythrocyte differentiation (GO:0060318)|definitive hemopoiesis (GO:0060216)|epithelial to mesenchymal transition (GO:0001837)|heart morphogenesis (GO:0003007)|heart trabecula formation (GO:0060347)|immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|liver development (GO:0001889)|negative regulation of cellular component movement (GO:0051271)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|organ regeneration (GO:0031100)|palate development (GO:0060021)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of protein binding (GO:0043393)|response to follicle-stimulating hormone (GO:0032354)|response to hypoxia (GO:0001666)|response to luteinizing hormone (GO:0034699)|response to prostaglandin E (GO:0034695)|transforming growth factor beta receptor complex assembly (GO:0007181)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|inhibin-betaglycan-ActRII complex (GO:0034673)|integral component of plasma membrane (GO:0005887)|proteinaceous extracellular matrix (GO:0005578)	coreceptor activity (GO:0015026)|glycosaminoglycan binding (GO:0005539)|heparin binding (GO:0008201)|PDZ domain binding (GO:0030165)|SMAD binding (GO:0046332)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta receptor activity, type III (GO:0070123)|transforming growth factor beta receptor binding (GO:0005160)|transforming growth factor beta-activated receptor activity (GO:0005024)|type II transforming growth factor beta receptor binding (GO:0005114)			endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(24)|ovary(3)|prostate(4)|skin(1)|stomach(1)|urinary_tract(3)	55		all_lung(203;0.00719)|Lung NSC(277;0.0268)		all cancers(265;0.0108)|Epithelial(280;0.0825)		CAGACTTTTTGCACTTCAAGA	0.363																																						ENST00000212355.4																			0				endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(24)|ovary(3)|prostate(4)|skin(1)|stomach(1)|urinary_tract(3)	55						c.(823-825)tgC>tgT		transforming growth factor, beta receptor III							104	99	100					1																	92193276		2203	4300	6503	SO:0001819	synonymous_variant	7049				BMP signaling pathway|cardiac epithelial to mesenchymal transition|cardiac muscle cell proliferation|cell growth|cell migration|definitive erythrocyte differentiation|heart trabecula formation|immune response|intracellular protein kinase cascade|liver development|negative regulation of cellular component movement|negative regulation of epithelial cell proliferation|palate development|pathway-restricted SMAD protein phosphorylation|response to follicle-stimulating hormone stimulus|response to luteinizing hormone stimulus|response to prostaglandin E stimulus|transforming growth factor beta receptor signaling pathway|ventricular cardiac muscle tissue morphogenesis	external side of plasma membrane|extracellular space|inhibin-betaglycan-ActRII complex|integral to plasma membrane|intracellular membrane-bounded organelle	coreceptor activity|heparin binding|PDZ domain binding|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type III|type II transforming growth factor beta receptor binding	g.chr1:92193276G>A	L07594	CCDS30770.1, CCDS55614.1	1p33-p32	2008-02-05	2007-02-15		ENSG00000069702	ENSG00000069702		"Proteoglycans / Cell surface : Other"	11774	protein-coding gene	gene with protein product	"betaglycan proteoglycan"	600742	"transforming growth factor, beta receptor III (betaglycan, 300kDa)"			1333192, 1319842	Standard	NM_001195684		Approved	betaglycan, BGCAN	uc001doh.3	Q03167	OTTHUMG00000010097	ENST00000525962.1:c.825C>T	1.37:g.92193276G>A						TGFBR3_ENST00000370399.2_Silent_p.C275C|TGFBR3_ENST00000525962.1_Silent_p.C275C	p.C275C	NM_001195683.1|NM_003243.4	NP_001182612.1|NP_003234.2	Q03167	TGBR3_HUMAN		all cancers(265;0.0108)|Epithelial(280;0.0825)	7	1290	-		all_lung(203;0.00719)|Lung NSC(277;0.0268)	275					A0AUW8|A8K5N0|B9EG88|Q5T2T4|Q5U731|Q9UGI2	Silent	SNP	ENST00000525962.1	37	c.825C>T	CCDS30770.1																																																																																				0.363	TGFBR3-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382308.1	NM_003243		33	35	0	0	0	1	0	33	35					A	92193276	G	A	92193276	2	1	435	1	0	0	0	0	0	0	0	1	15820	1311	46	3		3	TGFBR3	1	92193276	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	214625	92193276	157057345	429	21354											
C1orf146	388649	broad.mit.edu	37	chr1	92707800	92707800	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgcaactgccctagaaaatcGaagccacaaagttcgatatt	15	9	7	10	2	0	1	0	0	0	1	2	3	0	1	2	0	4	2	2	0	7	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:92707800G>A	ENST00000370375.3	+	3	246	c.98G>A	c.(97-99)cGa>cAa	p.R33Q	C1orf146_ENST00000370373.2_5'UTR	NM_001012425.1	NP_001012425.1	Q5VVC0	CA146_HUMAN	chromosome 1 open reading frame 146	33										breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(1)	8		all_lung(203;0.00528)|Lung NSC(277;0.0193)		all cancers(265;0.00846)|Epithelial(280;0.0952)		CTAGAAAATCGAAGCCACAAA	0.299																																						ENST00000370375.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(1)	8						c.(97-99)cGa>cAa		chromosome 1 open reading frame 146							109	111	110					1																	92707800		2203	4299	6502	SO:0001583	missense	388649							g.chr1:92707800G>A		CCDS30772.1	1p22.1	2008-02-05			ENSG00000203910	ENSG00000203910			24032	protein-coding gene	gene with protein product						15496913	Standard	NM_001012425		Approved		uc001doq.3	Q5VVC0	OTTHUMG00000010285	ENST00000370375.3:c.98G>A	1.37:g.92707800G>A	ENSP00000359401:p.Arg33Gln					C1orf146_ENST00000370373.2_5'UTR	p.R33Q	NM_001012425.1	NP_001012425.1	Q5VVC0	CA146_HUMAN		all cancers(265;0.00846)|Epithelial(280;0.0952)	3	246	+		all_lung(203;0.00528)|Lung NSC(277;0.0193)	33					Q5VVC4	Missense_Mutation	SNP	ENST00000370375.3	37	c.98G>A	CCDS30772.1	.	.	.	.	.	.	.	.	.	.	G	8.664	0.901185	0.17760	.	.	ENSG00000203910	ENST00000370375;ENST00000370373	.	.	.	5.15	-6.53	0.01866	.	0.957612	0.08610	N	0.920183	T	0.07458	0.0188	N	0.05124	-0.11	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.32025	-0.9922	9	0.16420	T	0.52	-2.1548	17.9604	0.89083	0.867:0.0:0.133:0.0	.	33	Q5VVC0	CA146_HUMAN	Q	33;12	.	ENSP00000359399:R12Q	R	+	2	0	C1orf146	92480388	0.923000	0.31300	0.236000	0.24074	0.850000	0.48378	0.220000	0.17660	-1.285000	0.02387	-0.793000	0.03317	CGA		0.299	C1orf146-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028364.1	NM_001012425		34	41	0	0	0	1	0	34	41					A	92707800	G	A	92707800	3	1	435	1	0	0	0	0	1	0	0	0	2003	1058	37	2	104	2	C1orf146	1	92707800	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	514524	92707800	156542821	430	21355											
RPL5	6125	broad.mit.edu	37	chr1	93300375	93300375	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agggggatatgatagtctgcGcagcgtatgcacacgaactg	11	8	14	8	3	1	1	0	1	1	0	1	3	1	2	0	2	4	3	0	2	4	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:93300375G>A	ENST00000370321.3	+	4	319	c.229G>A	c.(229-231)Gca>Aca	p.A77T	SNORD21_ENST00000383953.1_RNA	NM_000969.3	NP_000960.2	P46777	RL5_HUMAN	ribosomal protein L5	77					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|ribosomal large subunit biogenesis (GO:0042273)|RNA metabolic process (GO:0016070)|rRNA processing (GO:0006364)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	5S rRNA binding (GO:0008097)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	9		all_lung(203;0.00265)|Lung NSC(277;0.0056)|all_neural(321;0.185)|Melanoma(281;0.192)|Glioma(108;0.203)		GBM - Glioblastoma multiforme(16;0.000305)|all cancers(265;0.000343)|Epithelial(280;0.0927)		GATAGTCTGCGCAGCGTATGC	0.453																																						ENST00000370321.3																			0				endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	9						c.(229-231)Gca>Aca		ribosomal protein L5							116	118	117					1																	93300375		2203	4300	6503	SO:0001583	missense	6125				endocrine pancreas development|ribosomal large subunit biogenesis|rRNA processing|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|nucleolus	5S rRNA binding|protein binding|structural constituent of ribosome	g.chr1:93300375G>A	U14966	CCDS741.1	1p22.1	2014-06-13			ENSG00000122406	ENSG00000122406		"L ribosomal proteins"	10360	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 135"	603634				7937132, 7772601	Standard	NM_000969		Approved	L5, PPP1R135	uc001doz.3	P46777	OTTHUMG00000010899	ENST00000370321.3:c.229G>A	1.37:g.93300375G>A	ENSP00000359345:p.Ala77Thr						p.A77T	NM_000969.3	NP_000960.2	P46777	RL5_HUMAN		GBM - Glioblastoma multiforme(16;0.000305)|all cancers(265;0.000343)|Epithelial(280;0.0927)	4	319	+		all_lung(203;0.00265)|Lung NSC(277;0.0056)|all_neural(321;0.185)|Melanoma(281;0.192)|Glioma(108;0.203)	77					Q32LZ3|Q53HH6|Q9H3F4	Missense_Mutation	SNP	ENST00000370321.3	37	c.229G>A	CCDS741.1	.	.	.	.	.	.	.	.	.	.	G	24.1	4.492721	0.84962	.	.	ENSG00000122406	ENST00000432788;ENST00000370321;ENST00000315741	T	0.77750	-1.12	5.14	5.14	0.70334	.	0.000000	0.85682	D	0.000000	T	0.72914	0.3520	M	0.80422	2.495	0.80722	D	1	B	0.29115	0.233	B	0.25759	0.063	T	0.75728	-0.3216	10	0.52906	T	0.07	.	18.626	0.91338	0.0:0.0:1.0:0.0	.	77	P46777	RL5_HUMAN	T	27;77;27	ENSP00000359345:A77T	ENSP00000359338:A27T	A	+	1	0	RPL5	93072963	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.849000	0.99510	2.398000	0.81561	0.655000	0.94253	GCA		0.453	RPL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030058.2	NM_000969		5	85	0	0	0	1	0	5	85					A	93300375	G	A	93300375	3	1	435	1	0	0	0	0	1	0	0	0	13597	1087	38	1	243	1	RPL5	1	93300375	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	592575	93300375	155950246	431	21356											
CCDC18	343099	broad.mit.edu	37	chr1	93672762	93672762	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	actaactgaatctagacaaaGtattttgaagctagagagtg	16	11	9	5	0	1	4	0	2	1	2	1	5	1	4	0	0	2	2	0	0	7	6			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:93672762G>A	ENST00000343253.7	+	9	1518	c.1016G>A	c.(1015-1017)aGt>aAt	p.S339N	CCDC18_ENST00000557479.1_Missense_Mutation_p.S457N|CCDC18_ENST00000338949.4_Missense_Mutation_p.S138N|CCDC18_ENST00000401026.3_Missense_Mutation_p.S339N|CCDC18_ENST00000334652.5_5'UTR			Q5T9S5	CCD18_HUMAN	coiled-coil domain containing 18	339										breast(5)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	42		all_lung(203;0.00196)|Lung NSC(277;0.00903)|Melanoma(281;0.099)|all_neural(321;0.185)|Glioma(108;0.203)		all cancers(265;0.00166)|GBM - Glioblastoma multiforme(16;0.00551)|Epithelial(280;0.0967)		TCTAGACAAAGTATTTTGAAG	0.333																																						ENST00000343253.7																			0				breast(5)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	42						c.(1015-1017)aGt>aAt		coiled-coil domain containing 18							52	47	49					1																	93672762		1833	4080	5913	SO:0001583	missense	343099							g.chr1:93672762G>A			1p22.1	2008-02-05			ENSG00000122483	ENSG00000122483			30370	protein-coding gene	gene with protein product						12601173	Standard	XM_006710609		Approved	NY-SAR-41	uc021opx.1	Q5T9S5	OTTHUMG00000010598	ENST00000343253.7:c.1016G>A	1.37:g.93672762G>A	ENSP00000343377:p.Ser339Asn					CCDC18_ENST00000401026.3_Missense_Mutation_p.S339N|CCDC18_ENST00000338949.4_Missense_Mutation_p.S138N|CCDC18_ENST00000334652.5_5'UTR|CCDC18_ENST00000557479.1_Missense_Mutation_p.S457N	p.S339N			Q5T9S5	CCD18_HUMAN		all cancers(265;0.00166)|GBM - Glioblastoma multiforme(16;0.00551)|Epithelial(280;0.0967)	9	1518	+		all_lung(203;0.00196)|Lung NSC(277;0.00903)|Melanoma(281;0.099)|all_neural(321;0.185)|Glioma(108;0.203)	339					Q6ZU17	Missense_Mutation	SNP	ENST00000343253.7	37	c.1016G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	8.867|8.867	0.948291|0.948291	0.18356|0.18356	.|.	.|.	ENSG00000122483|ENSG00000122483	ENST00000343253;ENST00000401026;ENST00000557479;ENST00000338949;ENST00000455267|ENST00000370276	T;T;T;T;T|.	0.19394|.	2.15;2.15;2.15;2.15;2.15|.	5.83|5.83	-0.408|-0.408	0.12381|0.12381	.|.	0.449783|.	0.27549|.	N|.	0.018870|.	T|T	0.19208|0.19208	0.0461|0.0461	N|N	0.16478|0.16478	0.41|0.41	0.80722|0.80722	D|D	1|1	B;B|.	0.06786|.	0.0;0.001|.	B;B|.	0.08055|.	0.0;0.003|.	T|T	0.05733|0.05733	-1.0867|-1.0867	10|5	0.12103|.	T|.	0.63|.	.|.	8.706|8.706	0.34354|0.34354	0.7307:0.0:0.2693:0.0|0.7307:0.0:0.2693:0.0	.|.	339;457|.	Q5T9S5;G3V388|.	CCD18_HUMAN;.|.	N|I	339;339;457;138;59|393	ENSP00000343377:S339N;ENSP00000383808:S339N;ENSP00000451099:S457N;ENSP00000344380:S138N;ENSP00000391151:S59N|.	ENSP00000344380:S138N|.	S|V	+|+	2|1	0|0	CCDC18|CCDC18	93445350|93445350	0.975000|0.975000	0.34042|0.34042	0.970000|0.970000	0.41538|0.41538	0.537000|0.537000	0.34900|0.34900	0.040000|0.040000	0.13905|0.13905	0.022000|0.022000	0.15160|0.15160	0.555000|0.555000	0.69702|0.69702	AGT|GTA		0.333	CCDC18-008	PUTATIVE	basic|appris_principal|exp_conf	protein_coding	protein_coding	OTTHUMT00000382327.1	NM_206886		15	19	0	0	0	1	0	15	19					A	93672762	G	A	93672762	3	1	435	1	0	0	0	0	1	0	0	0	2794	1029	36	3	1404	3	CCDC18	1	93672762	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	372387	93672762	155577859	432	21357											
DR1	1810	broad.mit.edu	37	chr1	93812296	93812296	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ctcttcctaatgtccgggtgGccaacgatgctcgagagctg	7	10	12	12	3	1	1	0	0	1	1	4	3	3	1	3	2	3	2	3	2	2	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:93812296G>A	ENST00000370272.4	+	1	852	c.94G>A	c.(94-96)Gcc>Acc	p.A32T	RP4-717I23.3_ENST00000451302.2_RNA|DR1_ENST00000370267.1_Missense_Mutation_p.A32T|RP4-717I23.3_ENST00000413606.1_RNA	NM_001938.2	NP_001929.1	Q01658	NC2B_HUMAN	down-regulator of transcription 1, TBP-binding (negative cofactor 2)	32					chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|TBP-class protein binding (GO:0017025)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			endometrium(3)|large_intestine(1)	4		all_lung(203;0.00252)|Lung NSC(277;0.011)|Melanoma(281;0.155)		all cancers(265;0.0032)|GBM - Glioblastoma multiforme(16;0.0165)|Epithelial(280;0.0977)		TGTCCGGGTGGCCAACGATGC	0.448																																						ENST00000370272.3																			0				endometrium(3)|large_intestine(1)	4						c.(94-96)Gcc>Acc		down-regulator of transcription 1, TBP-binding (negative cofactor 2)							100	94	96					1																	93812296		2203	4300	6503	SO:0001583	missense	1810				histone H3 acetylation|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Ada2/Gcn5/Ada3 transcription activator complex	sequence-specific DNA binding|TBP-class protein binding|transcription corepressor activity	g.chr1:93812296G>A	M97388	CCDS744.1	1p22.1	2008-02-05			ENSG00000117505	ENSG00000117505			3017	protein-coding gene	gene with protein product		601482				1339312, 9040789	Standard	NM_001938		Approved	NC2, NC2-BETA	uc001dpu.3	Q01658	OTTHUMG00000010862	ENST00000370272.4:c.94G>A	1.37:g.93812296G>A	ENSP00000359295:p.Ala32Thr					DR1_ENST00000370267.1_Missense_Mutation_p.A32T	p.A32T	NM_001938.2	NP_001929.1	Q01658	NC2B_HUMAN		all cancers(265;0.0032)|GBM - Glioblastoma multiforme(16;0.0165)|Epithelial(280;0.0977)	1	852	+		all_lung(203;0.00252)|Lung NSC(277;0.011)|Melanoma(281;0.155)	32						Missense_Mutation	SNP	ENST00000370272.4	37	c.94G>A	CCDS744.1	.	.	.	.	.	.	.	.	.	.	G	26.8	4.767899	0.90020	.	.	ENSG00000117505	ENST00000370272;ENST00000370267	T;T	0.50277	0.75;0.75	5.76	5.76	0.90799	Histone-fold (2);Transcription factor CBF/NF-Y/archaeal histone (1);	0.000000	0.85682	D	0.000000	T	0.37625	0.1010	L	0.41710	1.295	0.80722	D	1	P	0.40398	0.716	B	0.42625	0.393	T	0.28744	-1.0034	10	0.54805	T	0.06	-7.301	19.9759	0.97304	0.0:0.0:1.0:0.0	.	32	Q01658	NC2B_HUMAN	T	32	ENSP00000359295:A32T;ENSP00000359290:A32T	ENSP00000359290:A32T	A	+	1	0	DR1	93584884	1.000000	0.71417	1.000000	0.80357	0.929000	0.56500	9.564000	0.98151	2.713000	0.92767	0.655000	0.94253	GCC		0.448	DR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029976.2	NM_001938		43	58	0	0	0	1	0	43	58					A	93812296	G	A	93812296	3	1	435	1	0	0	0	0	1	0	0	0	4752	1203	42	3	96	3	DR1	1	93812296	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	139534	93812296	155438325	433	21358											
DR1	1810	broad.mit.edu	37	chr1	93812396	93812396	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	taacaaatcggaaaagaagaCcatctcaccagagcatgtca	18	6	7	10	1	2	3	2	0	1	3	4	4	2	4	2	1	2	1	2	1	5	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:93812396C>T	ENST00000370272.4	+	1	952	c.194C>T	c.(193-195)aCc>aTc	p.T65I	RP4-717I23.3_ENST00000451302.2_RNA|DR1_ENST00000370267.1_Missense_Mutation_p.T65I|RP4-717I23.3_ENST00000413606.1_RNA	NM_001938.2	NP_001929.1	Q01658	NC2B_HUMAN	down-regulator of transcription 1, TBP-binding (negative cofactor 2)	65					chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|TBP-class protein binding (GO:0017025)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			endometrium(3)|large_intestine(1)	4		all_lung(203;0.00252)|Lung NSC(277;0.011)|Melanoma(281;0.155)		all cancers(265;0.0032)|GBM - Glioblastoma multiforme(16;0.0165)|Epithelial(280;0.0977)		GAAAAGAAGACCATCTCACCA	0.463																																						ENST00000370272.3																			0				endometrium(3)|large_intestine(1)	4						c.(193-195)aCc>aTc		down-regulator of transcription 1, TBP-binding (negative cofactor 2)							78	73	74					1																	93812396		2203	4300	6503	SO:0001583	missense	1810				histone H3 acetylation|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Ada2/Gcn5/Ada3 transcription activator complex	sequence-specific DNA binding|TBP-class protein binding|transcription corepressor activity	g.chr1:93812396C>T	M97388	CCDS744.1	1p22.1	2008-02-05			ENSG00000117505	ENSG00000117505			3017	protein-coding gene	gene with protein product		601482				1339312, 9040789	Standard	NM_001938		Approved	NC2, NC2-BETA	uc001dpu.3	Q01658	OTTHUMG00000010862	ENST00000370272.4:c.194C>T	1.37:g.93812396C>T	ENSP00000359295:p.Thr65Ile					DR1_ENST00000370267.1_Missense_Mutation_p.T65I	p.T65I	NM_001938.2	NP_001929.1	Q01658	NC2B_HUMAN		all cancers(265;0.0032)|GBM - Glioblastoma multiforme(16;0.0165)|Epithelial(280;0.0977)	1	952	+		all_lung(203;0.00252)|Lung NSC(277;0.011)|Melanoma(281;0.155)	65						Missense_Mutation	SNP	ENST00000370272.4	37	c.194C>T	CCDS744.1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.435776	0.83885	.	.	ENSG00000117505	ENST00000370272;ENST00000370267	T;T	0.61158	0.13;0.13	5.76	3.86	0.44501	Histone-fold (2);Transcription factor CBF/NF-Y/archaeal histone (1);	0.000000	0.85682	D	0.000000	T	0.69061	0.3069	M	0.88181	2.935	0.80722	D	1	D	0.67145	0.996	D	0.64776	0.929	T	0.75056	-0.3452	10	0.87932	D	0	-5.2398	10.5942	0.45327	0.1443:0.7879:0.0:0.0678	.	65	Q01658	NC2B_HUMAN	I	65	ENSP00000359295:T65I;ENSP00000359290:T65I	ENSP00000359290:T65I	T	+	2	0	DR1	93584984	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.893000	0.69798	0.720000	0.32209	0.655000	0.94253	ACC		0.463	DR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029976.2	NM_001938		12	19	0	0	0	1	0	12	19					T	93812396	C	T	93812396	3	4	435	1	0	0	0	0	1	0	0	0	4752	507	18	3	196	3	DR1	1	93812396	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	100	93812396	155438225	434	21359											
BCAR3	8412	broad.mit.edu	37	chr1	94049651	94049651	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgcatgtgatccaggcaggcGggctggctaccactcttttc	6	11	12	12	1	1	1	0	1	1	0	3	1	2	1	2	4	2	4	2	4	1	3	rs143814614		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:94049651G>A	ENST00000370244.1	-	8	1245	c.957C>T	c.(955-957)ccC>ccT	p.P319P	BCAR3_ENST00000370247.3_Silent_p.P228P|BCAR3_ENST00000466632.1_5'UTR|BCAR3_ENST00000260502.6_Silent_p.P319P|BCAR3_ENST00000539242.1_5'UTR|BCAR3_ENST00000370243.1_Silent_p.P319P	NM_001261408.1	NP_001248337.1	O75815	BCAR3_HUMAN	breast cancer anti-estrogen resistance 3	319					lens morphogenesis in camera-type eye (GO:0002089)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|response to drug (GO:0042493)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)		guanyl-nucleotide exchange factor activity (GO:0005085)	p.P319P(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)	25		all_lung(203;0.00145)|Lung NSC(277;0.00662)		all cancers(265;0.0126)|GBM - Glioblastoma multiforme(16;0.0467)|Epithelial(280;0.166)		CCAGGCAGGCGGGCTGGCTAC	0.468																																						ENST00000370244.1																			1	Substitution - coding silent(1)	p.P319P(1)	lung(1)	breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)	25						c.(955-957)ccC>ccT		breast cancer anti-estrogen resistance 3		G		0,4406		0,0,2203	89	87	88		957	-11.1	0.7	1	dbSNP_134	88	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	BCAR3	NM_003567.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		319/826	94049651	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	8412				response to drug|small GTPase mediated signal transduction	intracellular	guanyl-nucleotide exchange factor activity|protein binding	g.chr1:94049651G>A	U92715	CCDS745.1, CCDS58010.1	1p22.1	2013-02-14			ENSG00000137936	ENSG00000137936		"SH2 domain containing"	973	protein-coding gene	gene with protein product		604704				9582273	Standard	NM_001261408		Approved	NSP2, SH2D3B	uc001dpz.4	O75815	OTTHUMG00000010301	ENST00000370244.1:c.957C>T	1.37:g.94049651G>A						BCAR3_ENST00000370247.3_Silent_p.P228P|BCAR3_ENST00000466632.1_5'UTR|BCAR3_ENST00000260502.6_Silent_p.P319P|BCAR3_ENST00000370243.1_Silent_p.P319P|BCAR3_ENST00000539242.1_5'UTR	p.P319P	NM_001261408.1	NP_001248337.1	O75815	BCAR3_HUMAN		all cancers(265;0.0126)|GBM - Glioblastoma multiforme(16;0.0467)|Epithelial(280;0.166)	8	1245	-		all_lung(203;0.00145)|Lung NSC(277;0.00662)	319					D3DT43|Q5TEW3|Q6UW40|Q9BR50	Silent	SNP	ENST00000370244.1	37	c.957C>T	CCDS745.1																																																																																				0.468	BCAR3-003	NOVEL	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028420.1			22	18	0	0	0	1	0	22	18					A	94049651	G	A	94049651	2	1	435	1	0	0	0	0	0	0	0	1	1349	1103	39	2		2	BCAR3	1	94049651	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	237255	94049651	155200970	435	21360											
ABCA4	24	broad.mit.edu	37	chr1	94586597	94586597	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gctgtatctgtctcacgaagCccatgctaatgaccacacga	11	9	8	13	2	2	1	1	1	2	0	3	3	2	1	2	0	2	3	2	0	3	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:94586597C>T	ENST00000370225.3	-	1	91	c.5G>A	c.(4-6)gGc>gAc	p.G2D	ABCA4_ENST00000535735.1_Missense_Mutation_p.G2D	NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	2					phospholipid transfer to membrane (GO:0006649)|photoreceptor cell maintenance (GO:0045494)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|photoreceptor disc membrane (GO:0097381)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|phospholipid-translocating ATPase activity (GO:0004012)|transporter activity (GO:0005215)			NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		TCTCACGAAGCCCATGCTAAT	0.512																																						ENST00000370225.3																			0				NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147						c.(4-6)gGc>gAc		ATP-binding cassette, sub-family A (ABC1), member 4							120	112	115					1																	94586597		2203	4300	6503	SO:0001583	missense	24				phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr1:94586597C>T	U88667	CCDS747.1	1p22	2013-01-23			ENSG00000198691	ENSG00000198691		"ATP binding cassette transporters / subfamily A"	34	protein-coding gene	gene with protein product	"Stargardt disease"	601691	"ATP-binding cassette transporter, retinal-specific"	STGD1, ABCR, RP19, STGD		9490294	Standard	NM_000350		Approved	FFM, ARMD2, CORD3	uc001dqh.3	P78363	OTTHUMG00000010622	ENST00000370225.3:c.5G>A	1.37:g.94586597C>T	ENSP00000359245:p.Gly2Asp					ABCA4_ENST00000535735.1_Missense_Mutation_p.G2D	p.G2D	NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)	1	91	-		all_lung(203;0.000757)|Lung NSC(277;0.00335)	2					O15112|O60438|O60915|Q0QD48|Q4LE31	Missense_Mutation	SNP	ENST00000370225.3	37	c.5G>A	CCDS747.1	.	.	.	.	.	.	.	.	.	.	C	17.76	3.467785	0.63625	.	.	ENSG00000198691	ENST00000370225;ENST00000535735	D;D	0.91631	-2.88;-2.88	4.93	4.93	0.64822	.	0.809480	0.11816	N	0.526700	D	0.94095	0.8107	M	0.70275	2.135	0.35673	D	0.813461	D;P	0.58620	0.983;0.875	P;B	0.58210	0.835;0.307	D	0.93615	0.6942	10	0.62326	D	0.03	.	17.0646	0.86556	0.0:1.0:0.0:0.0	.	2;2	F5H6E5;P78363	.;ABCA4_HUMAN	D	2	ENSP00000359245:G2D;ENSP00000437682:G2D	ENSP00000359245:G2D	G	-	2	0	ABCA4	94359185	1.000000	0.71417	1.000000	0.80357	0.439000	0.31926	2.676000	0.46883	2.566000	0.86566	0.561000	0.74099	GGC		0.512	ABCA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029320.1	NM_000350		19	29	0	0	0	1	0	19	29					T	94586597	C	T	94586597	3	4	435	1	0	0	0	0	1	0	0	0	34	739	26	3	7016	3	ABCA4	1	94586597	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	536946	94586597	154664024	436	21361											
ALG14	199857	broad.mit.edu	37	chr1	95530491	95530491	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttattggcactcatttcatcAgtgtcagcaatgacataatg	12	14	7	8	0	4	1	4	1	0	0	4	1	4	1	0	1	1	2	0	1	3	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:95530491A>G	ENST00000370205.5	-	2	265	c.219T>C	c.(217-219)acT>acC	p.T73T	ALG14_ENST00000495856.1_5'UTR|RP11-313A24.1_ENST00000451611.1_RNA	NM_144988.3	NP_659425.1	Q96F25	ALG14_HUMAN	ALG14, UDP-N-acetylglucosaminyltransferase subunit	73					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)				endometrium(2)|large_intestine(1)|lung(2)|pancreas(1)	6		all_lung(203;0.0232)|Lung NSC(277;0.0739)		all cancers(265;0.0615)|Epithelial(280;0.139)		TCATTTCATCAGTGTCAGCAA	0.388																																						ENST00000370205.4																			0				endometrium(2)|large_intestine(1)|lung(2)|pancreas(1)	6						c.(217-219)acT>acC		ALG14, UDP-N-acetylglucosaminyltransferase subunit							126	122	123					1																	95530491		2203	4300	6503	SO:0001819	synonymous_variant	199857				dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase activity	g.chr1:95530491A>G		CCDS752.1	1p21.3	2013-02-21	2013-02-21		ENSG00000172339	ENSG00000172339			28287	protein-coding gene	gene with protein product		612866	"asparagine-linked glycosylation 14 homolog (yeast)", "asparagine-linked glycosylation 14 homolog (S. cerevisiae)"			15615718	Standard	NM_144988		Approved	MGC19780	uc001dra.2	Q96F25	OTTHUMG00000010781	ENST00000370205.5:c.219T>C	1.37:g.95530491A>G						RP11-313A24.1_ENST00000451611.1_RNA|ALG14_ENST00000495856.1_5'UTR	p.T73T	NM_144988.3	NP_659425.1	Q96F25	ALG14_HUMAN		all cancers(265;0.0615)|Epithelial(280;0.139)	2	265	-		all_lung(203;0.0232)|Lung NSC(277;0.0739)	73					A8K030	Silent	SNP	ENST00000370205.5	37	c.219T>C	CCDS752.1																																																																																				0.388	ALG14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029699.2	NM_144988		7	19	0	0	0	1	0	7	19					G	95530491	A	G	95530491	2	3	435	1	0	0	0	0	0	0	0	1	516	175	7	4		4	ALG14	1	95530491	Silent	SNP	A	TCGA-XK-AAIW-01A-11D-A41K-08	943894	95530491	153720130	437	21362											
DPYD	1806	broad.mit.edu	37	chr1	97544634	97544634	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acaatagggcaaacactgagAcacagagtacagcctgtaca	17	5	9	10	0	0	2	0	1	0	2	0	3	0	2	1	1	4	3	1	1	5	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:97544634A>G	ENST00000370192.3	-	23	3076	c.2976T>C	c.(2974-2976)tgT>tgC	p.C992C		NM_000110.3	NP_000101	Q12882	DPYD_HUMAN	dihydropyrimidine dehydrogenase	992	4Fe-4S ferredoxin-type 3. {ECO:0000255|PROSITE-ProRule:PRU00711}.				beta-alanine biosynthetic process (GO:0019483)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase catabolic process (GO:0006145)|pyrimidine nucleobase catabolic process (GO:0006208)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|small molecule metabolic process (GO:0044281)|thymidine catabolic process (GO:0006214)|thymine catabolic process (GO:0006210)|UMP biosynthetic process (GO:0006222)|uracil catabolic process (GO:0006212)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	4 iron, 4 sulfur cluster binding (GO:0051539)|dihydroorotate dehydrogenase activity (GO:0004152)|dihydropyrimidine dehydrogenase (NADP+) activity (GO:0017113)|flavin adenine dinucleotide binding (GO:0050660)|metal ion binding (GO:0046872)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	83		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	Capecitabine(DB01101)|Flavin adenine dinucleotide(DB03147)|Fluorouracil(DB00544)	AAACACTGAGACACAGAGTAC	0.463																																						ENST00000370192.3																			0				NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	83						c.(2974-2976)tgT>tgC		dihydropyrimidine dehydrogenase	Capecitabine(DB01101)|Enfuvirtide(DB00109)						219	206	211					1																	97544634		2203	4300	6503	SO:0001819	synonymous_variant	1806				'de novo' pyrimidine base biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|UMP biosynthetic process|uracil catabolic process	cytosol	4 iron, 4 sulfur cluster binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|NADP binding|protein homodimerization activity	g.chr1:97544634A>G	U20938	CCDS30777.1, CCDS53346.1	1p22	2014-09-17			ENSG00000188641	ENSG00000188641	1.3.1.2		3012	protein-coding gene	gene with protein product		612779				7713523	Standard	NM_000110		Approved	DPD	uc001drv.3	Q12882	OTTHUMG00000039683	ENST00000370192.3:c.2976T>C	1.37:g.97544634A>G							p.C992C	NM_000110.3	NP_000101.2	Q12882	DPYD_HUMAN		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	23	3076	-		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)	992			4Fe-4S ferredoxin-type 3.		A2RRQ2|A2RRQ3|A8K5A2|A8MWG9|B1AN21|E9PFN1|Q16694|Q16761|Q32NB0|Q96HL6|Q96TH1	Silent	SNP	ENST00000370192.3	37	c.2976T>C	CCDS30777.1																																																																																				0.463	DPYD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095698.3	NM_000110		5	102	0	0	0	1	0	5	102					G	97544634	A	G	97544634	2	3	435	1	0	0	0	0	0	0	0	1	4745	273	10	4		4	DPYD	1	97544634	Silent	SNP	A	TCGA-XK-AAIW-01A-11D-A41K-08	2014143	97544634	151705987	438	21363											
LPPR5	163404	broad.mit.edu	37	chr1	99422227	99422228	+	Frame_Shift_Ins	INS	-	-	T																															acagtctccagttaaaatagINSttttttcctggttttcaaaa																										TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:99422227_99422228insT	ENST00000263177.4	-	2	528_529	c.307_308insA	c.(307-309)actfs	p.T103fs	LPPR5_ENST00000370188.3_Frame_Shift_Ins_p.T103fs	NM_001037317.1	NP_001032394.1	Q32ZL2	LPPR5_HUMAN		103						integral component of membrane (GO:0016021)	hydrolase activity (GO:0016787)										AGTTAAAATAGTTTTTTCCTGG	0.337																																						ENST00000370188.3																			0											c.(307-309)tatfs																																						SO:0001589	frameshift_variant	0					integral to membrane	hydrolase activity	g.chr1:99422227_99422228insT																												ENST00000263177.4:c.308dupA	1.37:g.99422233_99422233dupT	ENSP00000263177:p.Thr103fs					LPPR5_ENST00000263177.4_Frame_Shift_Ins_p.Y103fs	p.Y103fs	NM_001010861.2	NP_001010861.1	Q32ZL2	LPPR5_HUMAN			2	667_668	-			103					A8MPX4|B7UCH3|Q32ZD0|Q3ZCU7	Frame_Shift_Ins	INS	ENST00000263177.4	37	c.307_308insA	CCDS30778.1																																																																																				0.337	LPPR5-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000393221.1			21	31						21	31	---	---	---	---	T	99422228	-	T	99422227	7	5	435	1	0	1	1	0	0	0	0	0	8928	1029	36	0	677	0	LPPR5	1	99422227	Frame_Shift_Ins	INS	-	TCGA-XK-AAIW-01A-11D-A41K-08	1877593	99422227	149828394	439	21364											
LPPR5	163404	broad.mit.edu	37	chr1	99470129	99470129	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acgttcacggtgaacgtgtcCgtatactcgaagtagtacgc	10	10	11	10	6	1	1	1	1	0	0	3	2	2	1	1	1	3	4	1	1	6	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:99470129C>T	ENST00000263177.4	-	1	320	c.99G>A	c.(97-99)acG>acA	p.T33T	LPPR5_ENST00000534652.1_5'Flank|LPPR5_ENST00000370188.3_Silent_p.T33T|RP5-896L10.1_ENST00000425113.1_RNA	NM_001037317.1	NP_001032394.1	Q32ZL2	LPPR5_HUMAN		33						integral component of membrane (GO:0016021)	hydrolase activity (GO:0016787)										TGAACGTGTCCGTATACTCGA	0.642																																						ENST00000370188.3																			0											c.(97-99)acG>acA									102	79	86					1																	99470129		2203	4300	6503	SO:0001819	synonymous_variant	0					integral to membrane	hydrolase activity	g.chr1:99470129C>T																												ENST00000263177.4:c.99G>A	1.37:g.99470129C>T						LPPR5_ENST00000263177.4_Silent_p.T33T|RP5-896L10.1_ENST00000425113.1_RNA	p.T33T	NM_001010861.2	NP_001010861.1	Q32ZL2	LPPR5_HUMAN			1	459	-			33					A8MPX4|B7UCH3|Q32ZD0|Q3ZCU7	Silent	SNP	ENST00000263177.4	37	c.99G>A	CCDS30778.1																																																																																				0.642	LPPR5-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000393221.1			23	38	0	0	0	1	0	23	38					T	99470129	C	T	99470129	2	4	435	1	0	0	0	0	0	0	0	1	8928	639	23	2		2	LPPR5	1	99470129	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	47902	99470129	149780492	440	21365											
AGL	178	broad.mit.edu	37	chr1	100346235	100346235	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aagagggcagattagtttacCgatatggaggagaacctgtt	13	10	13	5	1	0	3	0	0	0	3	0	6	0	4	2	3	2	3	2	3	5	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:100346235C>T	ENST00000294724.4	+	14	2261	c.1783C>T	c.(1783-1785)Cga>Tga	p.R595*	AGL_ENST00000361302.3_Nonsense_Mutation_p.R579*|AGL_ENST00000370165.3_Nonsense_Mutation_p.R595*|AGL_ENST00000361915.3_Nonsense_Mutation_p.R595*|AGL_ENST00000361522.4_Nonsense_Mutation_p.R578*|AGL_ENST00000370161.2_Nonsense_Mutation_p.R579*|AGL_ENST00000370163.3_Nonsense_Mutation_p.R595*	NM_000028.2	NP_000019.2	P35573	GDE_HUMAN	amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase	595					carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|glycogen catabolic process (GO:0005980)|response to glucocorticoid (GO:0051384)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|inclusion body (GO:0016234)|isoamylase complex (GO:0043033)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)	4-alpha-glucanotransferase activity (GO:0004134)|amylo-alpha-1,6-glucosidase activity (GO:0004135)|glycogen debranching enzyme activity (GO:0004133)|polysaccharide binding (GO:0030247)	p.R595R(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(9)|lung(35)|ovary(1)|prostate(4)|skin(3)|urinary_tract(1)	69		all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131)		Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237)		ATTAGTTTACCGATATGGAGG	0.398																																						ENST00000294724.4																			1	Substitution - coding silent(1)	p.R595R(1)	lung(1)	NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(9)|lung(35)|ovary(1)|prostate(4)|skin(3)|urinary_tract(1)	69						c.(1783-1785)Cga>Tga		amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase							289	272	278					1																	100346235		2203	4300	6503	SO:0001587	stop_gained	178				glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol|isoamylase complex|nucleus	4-alpha-glucanotransferase activity|amylo-alpha-1,6-glucosidase activity|cation binding	g.chr1:100346235C>T	BC078663	CCDS759.1, CCDS760.1, CCDS761.1	1p21	2010-04-27	2010-04-27		ENSG00000162688	ENSG00000162688	2.4.1.25, 3.2.1.33		321	protein-coding gene	gene with protein product	"glycogen debranching enzyme", "glycogen storage disease type III"	610860	"amylo-1, 6-glucosidase, 4-alpha-glucanotransferase"			1505983	Standard	NM_000028		Approved		uc001dsi.1	P35573	OTTHUMG00000010803	ENST00000294724.4:c.1783C>T	1.37:g.100346235C>T	ENSP00000294724:p.Arg595*					AGL_ENST00000370161.2_Nonsense_Mutation_p.R579*|AGL_ENST00000361302.3_Nonsense_Mutation_p.R579*|AGL_ENST00000361915.3_Nonsense_Mutation_p.R595*|AGL_ENST00000370165.3_Nonsense_Mutation_p.R595*|AGL_ENST00000361522.4_Nonsense_Mutation_p.R578*|AGL_ENST00000370163.3_Nonsense_Mutation_p.R595*	p.R595*	NM_000028.2	NP_000019.2	P35573	GDE_HUMAN		Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237)	14	2261	+		all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131)	595					A6NCX7|A6NEK2|D3DT51|P78354|P78544|Q59H92|Q6AZ90|Q9UF08	Nonsense_Mutation	SNP	ENST00000294724.4	37	c.1783C>T	CCDS759.1	.	.	.	.	.	.	.	.	.	.	C	39	7.663355	0.98419	.	.	ENSG00000162688	ENST00000361915;ENST00000370165;ENST00000370163;ENST00000294724;ENST00000361302;ENST00000370161;ENST00000361522	.	.	.	5.84	4.92	0.64577	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.6494	16.0871	0.81065	0.1416:0.8584:0.0:0.0	.	.	.	.	X	595;595;595;595;579;579;578	.	ENSP00000294724:R595X	R	+	1	2	AGL	100118823	1.000000	0.71417	1.000000	0.80357	0.610000	0.37248	5.761000	0.68801	1.444000	0.47605	0.591000	0.81541	CGA		0.398	AGL-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029778.1	NM_000028		49	91	0	0	0	1	0	49	91					T	100346235	C	T	100346235	4	4	435	1	0	0	0	0	0	1	0	0	384	644	23	2	1902	2	AGL	1	100346235	Nonsense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	876106	100346235	148904386	441	21366											
AGL	178	broad.mit.edu	37	chr1	100346680	100346680	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gtactacaattgtttctatgGcatgttgtgctagtggaagt	9	16	11	5	0	1	0	0	0	1	0	1	1	1	1	0	2	3	5	0	2	6	7			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:100346680G>A	ENST00000294724.4	+	15	2426	c.1948G>A	c.(1948-1950)Gca>Aca	p.A650T	AGL_ENST00000361302.3_Missense_Mutation_p.A634T|AGL_ENST00000370165.3_Missense_Mutation_p.A650T|AGL_ENST00000361915.3_Missense_Mutation_p.A650T|AGL_ENST00000361522.4_Missense_Mutation_p.A633T|AGL_ENST00000370161.2_Missense_Mutation_p.A634T|AGL_ENST00000370163.3_Missense_Mutation_p.A650T	NM_000028.2	NP_000019.2	P35573	GDE_HUMAN	amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase	650					carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|glycogen catabolic process (GO:0005980)|response to glucocorticoid (GO:0051384)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|inclusion body (GO:0016234)|isoamylase complex (GO:0043033)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)	4-alpha-glucanotransferase activity (GO:0004134)|amylo-alpha-1,6-glucosidase activity (GO:0004135)|glycogen debranching enzyme activity (GO:0004133)|polysaccharide binding (GO:0030247)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(9)|lung(35)|ovary(1)|prostate(4)|skin(3)|urinary_tract(1)	69		all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131)		Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237)		TGTTTCTATGGCATGTTGTGC	0.368																																						ENST00000294724.4																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(9)|lung(35)|ovary(1)|prostate(4)|skin(3)|urinary_tract(1)	69						c.(1948-1950)Gca>Aca		amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase							188	171	177					1																	100346680		2203	4300	6503	SO:0001583	missense	178				glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol|isoamylase complex|nucleus	4-alpha-glucanotransferase activity|amylo-alpha-1,6-glucosidase activity|cation binding	g.chr1:100346680G>A	BC078663	CCDS759.1, CCDS760.1, CCDS761.1	1p21	2010-04-27	2010-04-27		ENSG00000162688	ENSG00000162688	2.4.1.25, 3.2.1.33		321	protein-coding gene	gene with protein product	"glycogen debranching enzyme", "glycogen storage disease type III"	610860	"amylo-1, 6-glucosidase, 4-alpha-glucanotransferase"			1505983	Standard	NM_000028		Approved		uc001dsi.1	P35573	OTTHUMG00000010803	ENST00000294724.4:c.1948G>A	1.37:g.100346680G>A	ENSP00000294724:p.Ala650Thr					AGL_ENST00000370161.2_Missense_Mutation_p.A634T|AGL_ENST00000361302.3_Missense_Mutation_p.A634T|AGL_ENST00000361915.3_Missense_Mutation_p.A650T|AGL_ENST00000370165.3_Missense_Mutation_p.A650T|AGL_ENST00000361522.4_Missense_Mutation_p.A633T|AGL_ENST00000370163.3_Missense_Mutation_p.A650T	p.A650T	NM_000028.2	NP_000019.2	P35573	GDE_HUMAN		Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237)	15	2426	+		all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131)	650					A6NCX7|A6NEK2|D3DT51|P78354|P78544|Q59H92|Q6AZ90|Q9UF08	Missense_Mutation	SNP	ENST00000294724.4	37	c.1948G>A	CCDS759.1	.	.	.	.	.	.	.	.	.	.	G	19.10	3.762413	0.69763	.	.	ENSG00000162688	ENST00000361915;ENST00000370165;ENST00000370163;ENST00000294724;ENST00000361302;ENST00000370161;ENST00000361522	D;D;D;D;D;D;D	0.82619	-1.63;-1.63;-1.63;-1.63;-1.63;-1.63;-1.63	6.01	6.01	0.97437	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.000000	0.85682	D	0.000000	D	0.89591	0.6759	M	0.66939	2.045	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.78314	0.99;0.99;0.991	D	0.88001	0.2756	10	0.51188	T	0.08	.	20.5141	0.99211	0.0:0.0:1.0:0.0	.	633;634;650	P35573-2;P35573-3;P35573	.;.;GDE_HUMAN	T	650;650;650;650;634;634;633	ENSP00000355106:A650T;ENSP00000359184:A650T;ENSP00000359182:A650T;ENSP00000294724:A650T;ENSP00000354971:A634T;ENSP00000359180:A634T;ENSP00000354635:A633T	ENSP00000294724:A650T	A	+	1	0	AGL	100119268	1.000000	0.71417	0.999000	0.59377	0.103000	0.19146	7.560000	0.82277	2.850000	0.98022	0.655000	0.94253	GCA		0.368	AGL-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029778.1	NM_000028		25	38	0	0	0	1	0	25	38					A	100346680	G	A	100346680	3	1	435	1	0	0	0	0	1	0	0	0	384	1203	42	3	2071	3	AGL	1	100346680	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	445	100346680	148903941	442	21367											
LRRC39	127495	broad.mit.edu	37	chr1	100621788	100621788	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ccatgtccagccactcaaggGcaggcatgttcaacacagca	12	6	9	14	0	2	0	2	0	0	0	3	0	3	0	3	2	3	4	3	2	2	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:100621788G>A	ENST00000370137.1	-	7	797	c.599C>T	c.(598-600)gCc>gTc	p.A200V	LRRC39_ENST00000370138.1_Missense_Mutation_p.A200V|LRRC39_ENST00000342895.3_Missense_Mutation_p.A200V	NM_001256386.1|NM_144620.3	NP_001243315.1|NP_653221.1	Q96DD0	LRC39_HUMAN	leucine rich repeat containing 39	200										endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|skin(1)	13		all_epithelial(167;0.000542)|all_lung(203;0.0154)|Lung NSC(277;0.0155)		Epithelial(280;0.0826)|all cancers(265;0.135)|COAD - Colon adenocarcinoma(174;0.148)|Lung(183;0.195)		CCACTCAAGGGCAGGCATGTT	0.388																																						ENST00000370138.1																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|skin(1)	13						c.(598-600)gCc>gTc		leucine rich repeat containing 39							99	91	94					1																	100621788		2203	4300	6503	SO:0001583	missense	127495							g.chr1:100621788G>A	AK096892	CCDS766.1, CCDS58014.1	1p21.3	2008-02-05			ENSG00000122477	ENSG00000122477			28228	protein-coding gene	gene with protein product						12975309	Standard	NM_001256385		Approved	MGC14816	uc001dsx.2	Q96DD0	OTTHUMG00000010839	ENST00000370137.1:c.599C>T	1.37:g.100621788G>A	ENSP00000359156:p.Ala200Val					LRRC39_ENST00000370137.1_Missense_Mutation_p.A200V|LRRC39_ENST00000342895.3_Missense_Mutation_p.A200V	p.A200V	NM_001256385.1	NP_001243314.1	Q96DD0	LRC39_HUMAN		Epithelial(280;0.0826)|all cancers(265;0.135)|COAD - Colon adenocarcinoma(174;0.148)|Lung(183;0.195)	7	797	-		all_epithelial(167;0.000542)|all_lung(203;0.0154)|Lung NSC(277;0.0155)	200					B3KUD2|D3DT56|Q5VVK7	Missense_Mutation	SNP	ENST00000370137.1	37	c.599C>T	CCDS766.1	.	.	.	.	.	.	.	.	.	.	G	19.31	3.802841	0.70682	.	.	ENSG00000122477	ENST00000370137;ENST00000370138;ENST00000342895;ENST00000370136	T;T;T	0.17370	2.28;2.28;2.28	5.91	5.91	0.95273	.	0.000000	0.56097	D	0.000029	T	0.14787	0.0357	M	0.62723	1.935	0.38440	D	0.946685	P;P	0.47484	0.873;0.896	B;B	0.43838	0.306;0.433	T	0.01045	-1.1470	10	0.51188	T	0.08	.	14.942	0.71000	0.0:0.0:0.8237:0.1763	.	200;200	Q96DD0-2;Q96DD0	.;LRC39_HUMAN	V	200	ENSP00000359156:A200V;ENSP00000359157:A200V;ENSP00000344470:A200V	ENSP00000344470:A200V	A	-	2	0	LRRC39	100394376	0.998000	0.40836	1.000000	0.80357	0.612000	0.37316	2.701000	0.47094	2.793000	0.96121	0.655000	0.94253	GCC		0.388	LRRC39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029917.2	NM_144620		15	30	0	0	0	1	0	15	30					A	100621788	G	A	100621788	3	1	435	1	0	0	0	0	1	0	0	0	8995	1203	42	3	424	3	LRRC39	1	100621788	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	275108	100621788	148628833	443	21368											
VCAM1	7412	broad.mit.edu	37	chr1	101198116	101198116	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccctaacggggagctacaGcctctttctgagaatgcaac	10	9	9	13	1	2	1	0	1	2	1	3	3	3	2	2	2	6	2	2	2	4	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:101198116G>A	ENST00000294728.2	+	7	1769	c.1668G>A	c.(1666-1668)caG>caA	p.Q556Q	VCAM1_ENST00000347652.2_Silent_p.Q464Q|VCAM1_ENST00000370119.4_Silent_p.Q494Q|VCAM1_ENST00000370115.1_Silent_p.Q357Q	NM_001078.3	NP_001069.1	P19320	VCAM1_HUMAN	vascular cell adhesion molecule 1	556	Ig-like C2-type 6.				acute inflammatory response (GO:0002526)|aging (GO:0007568)|amine metabolic process (GO:0009308)|B cell differentiation (GO:0030183)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell-matrix adhesion (GO:0007160)|cellular response to glucose stimulus (GO:0071333)|cellular response to tumor necrosis factor (GO:0071356)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|chorio-allantoic fusion (GO:0060710)|chronic inflammatory response (GO:0002544)|cytokine-mediated signaling pathway (GO:0019221)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|heterophilic cell-cell adhesion (GO:0007157)|interferon-gamma-mediated signaling pathway (GO:0060333)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte tethering or rolling (GO:0050901)|membrane to membrane docking (GO:0022614)|oxidation-reduction process (GO:0055114)|positive regulation of T cell proliferation (GO:0042102)|regulation of immune response (GO:0050776)|response to ethanol (GO:0045471)|response to hypoxia (GO:0001666)|response to ionizing radiation (GO:0010212)|response to lipopolysaccharide (GO:0032496)|response to nicotine (GO:0035094)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|viral process (GO:0016032)	alpha9-beta1 integrin-vascular cell adhesion molecule-1 complex (GO:0071065)|apical part of cell (GO:0045177)|cell surface (GO:0009986)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|microvillus (GO:0005902)|plasma membrane (GO:0005886)|podosome (GO:0002102)|sarcolemma (GO:0042383)	cell adhesion molecule binding (GO:0050839)|integrin binding (GO:0005178)|primary amine oxidase activity (GO:0008131)			central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(27)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_epithelial(167;3.83e-06)|all_lung(203;0.000485)|Lung NSC(277;0.0011)		Epithelial(280;0.0227)|all cancers(265;0.0276)|COAD - Colon adenocarcinoma(174;0.149)|Colorectal(144;0.169)|Lung(183;0.196)	Carvedilol(DB01136)	GGGAGCTACAGCCTCTTTCTG	0.468																																						ENST00000294728.2																			0				central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(27)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56						c.(1666-1668)caG>caA		vascular cell adhesion molecule 1	Carvedilol(DB01136)						44	48	46					1																	101198116		2202	4300	6502	SO:0001819	synonymous_variant	7412				heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|leukocyte tethering or rolling|membrane to membrane docking|positive regulation of T cell proliferation|regulation of immune response	alpha9-beta1 integrin-vascular cell adhesion molecule-1 complex|apical part of cell|external side of plasma membrane|extracellular space|filopodium|integral to membrane|microvillus|podosome	cell adhesion molecule binding|integrin binding	g.chr1:101198116G>A	M60335	CCDS773.1, CCDS774.1, CCDS55617.1	1p32-p31	2014-01-30			ENSG00000162692	ENSG00000162692		"CD molecules", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Endogenous ligands"	12663	protein-coding gene	gene with protein product		192225					Standard	NM_080682		Approved	CD106	uc001dti.3	P19320	OTTHUMG00000010982	ENST00000294728.2:c.1668G>A	1.37:g.101198116G>A						VCAM1_ENST00000347652.2_Silent_p.Q464Q|VCAM1_ENST00000370115.1_Silent_p.Q357Q|VCAM1_ENST00000370119.4_Silent_p.Q494Q	p.Q556Q	NM_001078.3	NP_001069.1	P19320	VCAM1_HUMAN		Epithelial(280;0.0227)|all cancers(265;0.0276)|COAD - Colon adenocarcinoma(174;0.149)|Colorectal(144;0.169)|Lung(183;0.196)	7	1769	+		all_epithelial(167;3.83e-06)|all_lung(203;0.000485)|Lung NSC(277;0.0011)	556			Ig-like C2-type 6.		A8K6R7|B4DKS4|E9PDD1|Q6NUP8	Silent	SNP	ENST00000294728.2	37	c.1668G>A	CCDS773.1																																																																																				0.468	VCAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030213.1	NM_001078		10	43	0	0	0	1	0	10	43					A	101198116	G	A	101198116	2	1	435	1	0	0	0	0	0	0	0	1	17134	962	34	3		3	VCAM1	1	101198116	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	576328	101198116	148052505	444	21369											
VCAM1	7412	broad.mit.edu	37	chr1	101203801	101203801	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaaagccaacatgaaggggTcatatagtcttgtagaagca	16	8	11	6	0	2	2	1	1	1	1	2	3	2	2	1	2	3	2	1	2	8	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:101203801T>C	ENST00000294728.2	+	9	2283	c.2182T>C	c.(2182-2184)Tca>Cca	p.S728P	VCAM1_ENST00000347652.2_Missense_Mutation_p.S636P|VCAM1_ENST00000370119.4_Missense_Mutation_p.S666P|VCAM1_ENST00000370115.1_Missense_Mutation_p.S529P	NM_001078.3	NP_001069.1	P19320	VCAM1_HUMAN	vascular cell adhesion molecule 1	728				S -> P (in Ref. 6; BAG59286). {ECO:0000305}.	acute inflammatory response (GO:0002526)|aging (GO:0007568)|amine metabolic process (GO:0009308)|B cell differentiation (GO:0030183)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell-matrix adhesion (GO:0007160)|cellular response to glucose stimulus (GO:0071333)|cellular response to tumor necrosis factor (GO:0071356)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|chorio-allantoic fusion (GO:0060710)|chronic inflammatory response (GO:0002544)|cytokine-mediated signaling pathway (GO:0019221)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|heterophilic cell-cell adhesion (GO:0007157)|interferon-gamma-mediated signaling pathway (GO:0060333)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte tethering or rolling (GO:0050901)|membrane to membrane docking (GO:0022614)|oxidation-reduction process (GO:0055114)|positive regulation of T cell proliferation (GO:0042102)|regulation of immune response (GO:0050776)|response to ethanol (GO:0045471)|response to hypoxia (GO:0001666)|response to ionizing radiation (GO:0010212)|response to lipopolysaccharide (GO:0032496)|response to nicotine (GO:0035094)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|viral process (GO:0016032)	alpha9-beta1 integrin-vascular cell adhesion molecule-1 complex (GO:0071065)|apical part of cell (GO:0045177)|cell surface (GO:0009986)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|microvillus (GO:0005902)|plasma membrane (GO:0005886)|podosome (GO:0002102)|sarcolemma (GO:0042383)	cell adhesion molecule binding (GO:0050839)|integrin binding (GO:0005178)|primary amine oxidase activity (GO:0008131)			central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(27)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_epithelial(167;3.83e-06)|all_lung(203;0.000485)|Lung NSC(277;0.0011)		Epithelial(280;0.0227)|all cancers(265;0.0276)|COAD - Colon adenocarcinoma(174;0.149)|Colorectal(144;0.169)|Lung(183;0.196)	Carvedilol(DB01136)	CATGAAGGGGTCATATAGTCT	0.378																																						ENST00000294728.2																			0				central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(27)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56						c.(2182-2184)Tca>Cca		vascular cell adhesion molecule 1	Carvedilol(DB01136)						109	110	110					1																	101203801		2203	4300	6503	SO:0001583	missense	7412				heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|leukocyte tethering or rolling|membrane to membrane docking|positive regulation of T cell proliferation|regulation of immune response	alpha9-beta1 integrin-vascular cell adhesion molecule-1 complex|apical part of cell|external side of plasma membrane|extracellular space|filopodium|integral to membrane|microvillus|podosome	cell adhesion molecule binding|integrin binding	g.chr1:101203801T>C	M60335	CCDS773.1, CCDS774.1, CCDS55617.1	1p32-p31	2014-01-30			ENSG00000162692	ENSG00000162692		"CD molecules", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Endogenous ligands"	12663	protein-coding gene	gene with protein product		192225					Standard	NM_080682		Approved	CD106	uc001dti.3	P19320	OTTHUMG00000010982	ENST00000294728.2:c.2182T>C	1.37:g.101203801T>C	ENSP00000294728:p.Ser728Pro					VCAM1_ENST00000347652.2_Missense_Mutation_p.S636P|VCAM1_ENST00000370115.1_Missense_Mutation_p.S529P|VCAM1_ENST00000370119.4_Missense_Mutation_p.S666P	p.S728P	NM_001078.3	NP_001069.1	P19320	VCAM1_HUMAN		Epithelial(280;0.0227)|all cancers(265;0.0276)|COAD - Colon adenocarcinoma(174;0.149)|Colorectal(144;0.169)|Lung(183;0.196)	9	2283	+		all_epithelial(167;3.83e-06)|all_lung(203;0.000485)|Lung NSC(277;0.0011)	728					A8K6R7|B4DKS4|E9PDD1|Q6NUP8	Missense_Mutation	SNP	ENST00000294728.2	37	c.2182T>C	CCDS773.1	.	.	.	.	.	.	.	.	.	.	T	13.12	2.143702	0.37825	.	.	ENSG00000162692	ENST00000370119;ENST00000347652;ENST00000294728;ENST00000370115	T;T;T;T	0.62364	0.52;0.03;1.02;0.87	6.08	6.08	0.98989	.	0.058887	0.64402	D	0.000002	T	0.63212	0.2492	L	0.32530	0.975	0.35296	D	0.782628	D;B;D	0.89917	0.999;0.075;1.0	D;B;D	0.87578	0.988;0.056;0.998	T	0.65606	-0.6127	10	0.37606	T	0.19	-15.6273	16.6512	0.85203	0.0:0.0:0.0:1.0	.	666;636;728	E9PDD1;P19320-2;P19320	.;.;VCAM1_HUMAN	P	666;636;728;529	ENSP00000359137:S666P;ENSP00000304611:S636P;ENSP00000294728:S728P;ENSP00000359133:S529P	ENSP00000294728:S728P	S	+	1	0	VCAM1	100976389	0.998000	0.40836	0.939000	0.37840	0.318000	0.28184	5.243000	0.65395	2.333000	0.79357	0.482000	0.46254	TCA		0.378	VCAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030213.1	NM_001078		29	45	0	0	0	1	0	29	45					C	101203801	T	C	101203801	3	2	435	1	0	0	0	0	1	0	0	0	17134	1667	58	4	2216	4	VCAM1	1	101203801	Missense_Mutation	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	5685	101203801	148046820	445	21370											
SLC30A7	148867	broad.mit.edu	37	chr1	101377677	101377677	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgttttctagagagcattaGcccctccagatgtccaccat	9	12	8	12	0	1	2	0	0	1	2	3	3	3	2	5	0	2	2	5	0	2	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:101377677G>T	ENST00000370112.4	+	5	581	c.394G>T	c.(394-396)Gcc>Tcc	p.A132S	SLC30A7_ENST00000357650.4_Missense_Mutation_p.A132S	NM_001144884.1|NM_133496.4	NP_001138356.1|NP_598003.2	Q8NEW0	ZNT7_HUMAN	solute carrier family 30 (zinc transporter), member 7	132					cellular protein metabolic process (GO:0044267)|sequestering of zinc ion (GO:0032119)|transmembrane transport (GO:0055085)|zinc ion transport (GO:0006829)	cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|vesicle (GO:0031982)	cation transmembrane transporter activity (GO:0008324)			endometrium(3)|large_intestine(2)|lung(10)	15		all_epithelial(167;0.000445)|all_lung(203;0.00645)|Lung NSC(277;0.0119)		Epithelial(280;0.0437)|all cancers(265;0.0498)|COAD - Colon adenocarcinoma(174;0.162)|Colorectal(144;0.19)|Lung(183;0.201)		GAGAGCATTAGCCCCTCCAGA	0.348																																					NSCLC(91;473 1491 3102 16827 21633)	ENST00000370112.4																			0				endometrium(3)|large_intestine(2)|lung(10)	15						c.(394-396)Gcc>Tcc		solute carrier family 30 (zinc transporter), member 7							245	234	237					1																	101377677		2203	4300	6503	SO:0001583	missense	148867				zinc ion transport	Golgi apparatus|integral to membrane	cation transmembrane transporter activity|protein binding	g.chr1:101377677G>T	AF233345	CCDS776.1	1p21.1	2013-05-22			ENSG00000162695	ENSG00000162695		"Solute carriers"	19306	protein-coding gene	gene with protein product		611149				12446736	Standard	NM_133496		Approved	ZnTL2, ZNT7	uc001dto.2	Q8NEW0	OTTHUMG00000011815	ENST00000370112.4:c.394G>T	1.37:g.101377677G>T	ENSP00000359130:p.Ala132Ser					SLC30A7_ENST00000357650.4_Missense_Mutation_p.A132S	p.A132S	NM_001144884.1|NM_133496.4	NP_001138356.1|NP_598003.2	Q8NEW0	ZNT7_HUMAN		Epithelial(280;0.0437)|all cancers(265;0.0498)|COAD - Colon adenocarcinoma(174;0.162)|Colorectal(144;0.19)|Lung(183;0.201)	5	581	+		all_epithelial(167;0.000445)|all_lung(203;0.00645)|Lung NSC(277;0.0119)	132					B2R949|D3DT61|Q8TCH2	Missense_Mutation	SNP	ENST00000370112.4	37	c.394G>T	CCDS776.1	.	.	.	.	.	.	.	.	.	.	G	19.31	3.803651	0.70682	.	.	ENSG00000162695	ENST00000370112;ENST00000357650	T;T	0.61742	0.08;0.08	5.35	5.35	0.76521	.	0.099955	0.64402	D	0.000002	T	0.25901	0.0631	N	0.04018	-0.295	0.47123	D	0.999329	B	0.22746	0.074	B	0.24701	0.055	T	0.09885	-1.0654	10	0.34782	T	0.22	-6.8135	19.4322	0.94775	0.0:0.0:1.0:0.0	.	132	Q8NEW0	ZNT7_HUMAN	S	132	ENSP00000359130:A132S;ENSP00000350278:A132S	ENSP00000350278:A132S	A	+	1	0	SLC30A7	101150265	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.154000	0.94694	2.652000	0.90054	0.603000	0.83216	GCC		0.348	SLC30A7-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032711.1	NM_133496		68	111	1	0	3.89499e-28	1	4.3593e-28	68	111					T	101377677	G	T	101377677	3	4	435	1	0	0	0	0	1	0	0	0	14560	971	34	5	412	5	SLC30A7	1	101377677	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	173876	101377677	147872944	446	21371											
S1PR1	1901	broad.mit.edu	37	chr1	101705100	101705100	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gggctggaactgcatcagtgCgctgtccagctgctccaccg	6	8	13	14	2	1	0	1	0	0	0	3	1	3	1	3	2	5	5	3	2	1	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:101705100C>T	ENST00000305352.6	+	2	935	c.560C>T	c.(559-561)gCg>gTg	p.A187V		NM_001400.4	NP_001391.2	P21453	S1PR1_HUMAN	sphingosine-1-phosphate receptor 1	187					actin cytoskeleton reorganization (GO:0031532)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|angiogenesis (GO:0001525)|blood vessel maturation (GO:0001955)|brain development (GO:0007420)|cardiac muscle tissue growth involved in heart morphogenesis (GO:0003245)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|chemotaxis (GO:0006935)|endothelial cell differentiation (GO:0045446)|G-protein coupled receptor signaling pathway (GO:0007186)|heart trabecula morphogenesis (GO:0061384)|lamellipodium assembly (GO:0030032)|negative regulation of stress fiber assembly (GO:0051497)|neuron differentiation (GO:0030182)|positive regulation of cell migration (GO:0030335)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of bone mineralization (GO:0030500)|regulation of bone resorption (GO:0045124)|regulation of cell adhesion (GO:0030155)|sphingosine-1-phosphate signaling pathway (GO:0003376)|T cell migration (GO:0072678)|transmission of nerve impulse (GO:0019226)	endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|intrinsic component of plasma membrane (GO:0031226)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|G-protein coupled receptor binding (GO:0001664)|sphingolipid binding (GO:0046625)|sphingosine-1-phosphate receptor activity (GO:0038036)			NS(1)|autonomic_ganglia(1)|breast(1)|large_intestine(7)|lung(23)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	43						TGCATCAGTGCGCTGTCCAGC	0.572											OREG0013620	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000305352.6																			0				NS(1)|autonomic_ganglia(1)|breast(1)|large_intestine(7)|lung(23)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	43						c.(559-561)gCg>gTg		sphingosine-1-phosphate receptor 1							125	114	117					1																	101705100		2203	4300	6503	SO:0001583	missense	1901				cell adhesion	integral to membrane	lysosphingolipid and lysophosphatidic acid receptor activity	g.chr1:101705100C>T	M31210	CCDS777.1	1p21	2012-08-08	2008-04-30	2008-04-30	ENSG00000170989	ENSG00000170989		"GPCR / Class A : Lysophospholipid receptors : Sphingosine 1-phosphate", "CD molecules"	3165	protein-coding gene	gene with protein product		601974	"endothelial differentiation, sphingolipid G-protein-coupled receptor, 1"	EDG1		2160972, 9488656	Standard	NM_001400		Approved	edg-1, D1S3362, CD363	uc001dud.2	P21453	OTTHUMG00000010835	ENST00000305352.6:c.560C>T	1.37:g.101705100C>T	ENSP00000305416:p.Ala187Val		OREG0013620	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1360		p.A187V	NM_001400.4	NP_001391.2	P21453	S1PR1_HUMAN			2	935	+			187					D3DT66|Q9BYY4|Q9NYN8	Missense_Mutation	SNP	ENST00000305352.6	37	c.560C>T	CCDS777.1	.	.	.	.	.	.	.	.	.	.	C	9.141	1.013774	0.19277	.	.	ENSG00000170989	ENST00000305352;ENST00000424264	T	0.36699	1.24	5.32	-1.03	0.10102	GPCR, rhodopsin-like superfamily (1);	2.023430	0.02011	N	0.046982	T	0.09335	0.0230	L	0.36672	1.1	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.15178	-1.0446	10	0.36615	T	0.2	.	1.0303	0.01536	0.3528:0.1642:0.1015:0.3816	.	187	P21453	S1PR1_HUMAN	V	187	ENSP00000305416:A187V	ENSP00000305416:A187V	A	+	2	0	S1PR1	101477688	0.000000	0.05858	0.018000	0.16275	0.916000	0.54674	-0.885000	0.04161	-0.061000	0.13110	0.455000	0.32223	GCG		0.572	S1PR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029908.1	NM_001400		25	39	0	0	0	1	0	25	39					T	101705100	C	T	101705100	3	4	435	1	0	0	0	0	1	0	0	0	13793	768	27	1	562	1	S1PR1	1	101705100	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	327423	101705100	147545521	447	21372											
OLFM3	118427	broad.mit.edu	37	chr1	102290602	102290602	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttagctttttcatgcagtcaCgaagtcttgtttccaagctc	8	16	7	10	1	3	0	2	0	1	0	5	1	4	0	1	0	3	4	1	0	3	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:102290602C>T	ENST00000338858.5	-	4	631	c.632G>A	c.(631-633)cGt>cAt	p.R211H	OLFM3_ENST00000462354.1_5'UTR|OLFM3_ENST00000370103.4_Missense_Mutation_p.R191H|OLFM3_ENST00000359814.3_Missense_Mutation_p.R211H|OLFM3_ENST00000536598.1_Missense_Mutation_p.R116H			Q96PB7	NOE3_HUMAN	olfactomedin 3	211					eye photoreceptor cell development (GO:0042462)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|synapse (GO:0045202)				breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(24)|ovary(3)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	43		all_epithelial(167;1.87e-06)|all_lung(203;8.12e-05)|Lung NSC(277;0.000189)		all cancers(265;0.0843)|Epithelial(280;0.0921)|COAD - Colon adenocarcinoma(174;0.145)		CATGCAGTCACGAAGTCTTGT	0.373																																						ENST00000370103.4																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(24)|ovary(3)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	43						c.(571-573)cGt>cAt		olfactomedin 3							135	129	131					1																	102290602		2203	4300	6503	SO:0001583	missense	118427					extracellular region		g.chr1:102290602C>T	AF397392	CCDS30781.1, CCDS72832.1	1p22	2008-05-23			ENSG00000118733	ENSG00000118733			17990	protein-coding gene	gene with protein product	"optimedin"	607567				12019210, 16115881	Standard	NM_001288821		Approved	NOE3	uc001dug.2	Q96PB7	OTTHUMG00000010941	ENST00000338858.5:c.632G>A	1.37:g.102290602C>T	ENSP00000345192:p.Arg211His					OLFM3_ENST00000536598.1_Missense_Mutation_p.R116H|OLFM3_ENST00000359814.3_Missense_Mutation_p.R211H|OLFM3_ENST00000338858.5_Missense_Mutation_p.R211H|OLFM3_ENST00000462354.1_5'UTR	p.R191H	NM_058170.2	NP_477518.2	Q96PB7	NOE3_HUMAN		all cancers(265;0.0843)|Epithelial(280;0.0921)|COAD - Colon adenocarcinoma(174;0.145)	4	785	-		all_epithelial(167;1.87e-06)|all_lung(203;8.12e-05)|Lung NSC(277;0.000189)	211					Q5T3V6|Q6IMI7|Q6IMI8|Q6IMI9|Q6IMJ1|Q8TBG1|Q96PB2|Q96PB3|Q96PB4|Q96PB5|Q96PB6	Missense_Mutation	SNP	ENST00000338858.5	37	c.572G>A		.	.	.	.	.	.	.	.	.	.	C	14.36	2.513548	0.44763	.	.	ENSG00000118733	ENST00000424771;ENST00000370103;ENST00000338858;ENST00000536598;ENST00000359814	D;D;T;T	0.88509	-2.37;-2.39;-0.95;0.42	5.86	5.86	0.93980	.	0.053965	0.85682	D	0.000000	T	0.75576	0.3868	N	0.20766	0.605	0.39718	D	0.971433	B;B	0.12013	0.005;0.002	B;B	0.06405	0.002;0.0	T	0.69327	-0.5174	10	0.24483	T	0.36	.	20.1802	0.98196	0.0:1.0:0.0:0.0	.	191;211	Q5T3V6;Q96PB7	.;NOE3_HUMAN	H	62;191;211;116;211	ENSP00000359121:R191H;ENSP00000345192:R211H;ENSP00000443471:R116H;ENSP00000352867:R211H	ENSP00000345192:R211H	R	-	2	0	OLFM3	102063190	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.039000	0.57325	2.777000	0.95525	0.655000	0.94253	CGT		0.373	OLFM3-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000030142.1			4	38	0	0	0	1	0	4	38					T	102290602	C	T	102290602	3	4	435	1	0	0	0	0	1	0	0	0	10854	536	19	1	816	1	OLFM3	1	102290602	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	585502	102290602	146960019	448	21373											
COL11A1	1301	broad.mit.edu	37	chr1	103364241	103364241	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccacaggaccagggatgcccCgaagaccttctggaccaggc	10	4	12	15	1	1	1	0	0	1	1	1	5	1	4	6	4	1	0	6	4	1	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:103364241C>T	ENST00000370096.3	-	56	4541	c.4229G>A	c.(4228-4230)cGg>cAg	p.R1410Q	COL11A1_ENST00000512756.1_Missense_Mutation_p.R1294Q|COL11A1_ENST00000353414.4_Missense_Mutation_p.R1371Q|COL11A1_ENST00000358392.2_Missense_Mutation_p.R1422Q	NM_001854.3	NP_001845.3	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	1410	Collagen-like 6.|Triple-helical region.				cartilage condensation (GO:0001502)|chondrocyte development (GO:0002063)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|embryonic skeletal system morphogenesis (GO:0048704)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|proteoglycan metabolic process (GO:0006029)|sensory perception of sound (GO:0007605)|tendon development (GO:0035989)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visual perception (GO:0007601)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		AGGGATGCCCCGAAGACCTTC	0.458																																						ENST00000358392.2																			0				NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258						c.(4264-4266)cGg>cAg		collagen, type XI, alpha 1							45	48	47					1																	103364241		2203	4300	6503	SO:0001583	missense	1301				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging	g.chr1:103364241C>T	J04177	CCDS778.1, CCDS780.1, CCDS780.2, CCDS53348.1	1p21	2013-01-16			ENSG00000060718	ENSG00000060718		"Collagens"	2186	protein-coding gene	gene with protein product	"collagen XI, alpha-1 polypeptide"	120280		COLL6		3182841	Standard	NM_080630		Approved	STL2, CO11A1	uc001dul.3	P12107	OTTHUMG00000010872	ENST00000370096.3:c.4229G>A	1.37:g.103364241C>T	ENSP00000359114:p.Arg1410Gln					COL11A1_ENST00000353414.4_Missense_Mutation_p.R1371Q|COL11A1_ENST00000370096.3_Missense_Mutation_p.R1410Q|COL11A1_ENST00000512756.1_Missense_Mutation_p.R1294Q	p.R1422Q	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)	56	4582	-		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)	1410			Triple-helical region.		B1ASK7|D3DT73|E9PCU0|Q14034|Q149N0|Q9UIT4|Q9UIT5|Q9UIT6	Missense_Mutation	SNP	ENST00000370096.3	37	c.4265G>A	CCDS778.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.122861	0.77436	.	.	ENSG00000060718	ENST00000370096;ENST00000358392;ENST00000353414;ENST00000370090;ENST00000512756	D;D;D;D	0.92048	-2.96;-2.96;-2.96;-2.96	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	D	0.91875	0.7428	N	0.25201	0.72	0.58432	D	0.999994	D;D;P;D;D	0.89917	0.999;0.998;0.878;1.0;0.996	P;P;P;D;P	0.68765	0.874;0.801;0.613;0.96;0.731	D	0.92637	0.6121	10	0.56958	D	0.05	.	18.5617	0.91102	0.0:1.0:0.0:0.0	.	1294;1371;1422;1410;630	E9PCU0;P12107-3;P12107-2;P12107;F5H5Z5	.;.;.;COBA1_HUMAN;.	Q	1410;1422;1371;630;1294	ENSP00000359114:R1410Q;ENSP00000351163:R1422Q;ENSP00000302551:R1371Q;ENSP00000426533:R1294Q	ENSP00000302551:R1371Q	R	-	2	0	COL11A1	103136829	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.698000	0.84413	2.821000	0.97095	0.650000	0.86243	CGG		0.458	COL11A1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000029997.1	NM_080630		11	26	0	0	0	1	0	11	26					T	103364241	C	T	103364241	3	4	435	1	0	0	0	0	1	0	0	0	3667	652	23	2	1239	2	COL11A1	1	103364241	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	1073639	103364241	145886380	449	21374											
COL11A1	1301	broad.mit.edu	37	chr1	103364546	103364546	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgcacctgcagctccaggaGgaccctatagacataagatt	12	8	9	12	0	0	2	0	0	0	2	1	4	1	4	3	2	3	3	3	2	3	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:103364546G>T	ENST00000370096.3	-	55	4403	c.4091C>A	c.(4090-4092)cCt>cAt	p.P1364H	COL11A1_ENST00000512756.1_Missense_Mutation_p.P1248H|COL11A1_ENST00000353414.4_Missense_Mutation_p.P1325H|COL11A1_ENST00000358392.2_Missense_Mutation_p.P1376H	NM_001854.3	NP_001845.3	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	1364	Triple-helical region.				cartilage condensation (GO:0001502)|chondrocyte development (GO:0002063)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|embryonic skeletal system morphogenesis (GO:0048704)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|proteoglycan metabolic process (GO:0006029)|sensory perception of sound (GO:0007605)|tendon development (GO:0035989)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visual perception (GO:0007601)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		AGCTCCAGGAGGACCCTATAG	0.279																																						ENST00000358392.2																			0				NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258						c.(4126-4128)cCt>cAt		collagen, type XI, alpha 1							41	43	42					1																	103364546		2201	4297	6498	SO:0001583	missense	1301				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging	g.chr1:103364546G>T	J04177	CCDS778.1, CCDS780.1, CCDS780.2, CCDS53348.1	1p21	2013-01-16			ENSG00000060718	ENSG00000060718		"Collagens"	2186	protein-coding gene	gene with protein product	"collagen XI, alpha-1 polypeptide"	120280		COLL6		3182841	Standard	NM_080630		Approved	STL2, CO11A1	uc001dul.3	P12107	OTTHUMG00000010872	ENST00000370096.3:c.4091C>A	1.37:g.103364546G>T	ENSP00000359114:p.Pro1364His					COL11A1_ENST00000353414.4_Missense_Mutation_p.P1325H|COL11A1_ENST00000370096.3_Missense_Mutation_p.P1364H|COL11A1_ENST00000512756.1_Missense_Mutation_p.P1248H	p.P1376H	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)	55	4444	-		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)	1364			Triple-helical region.		B1ASK7|D3DT73|E9PCU0|Q14034|Q149N0|Q9UIT4|Q9UIT5|Q9UIT6	Missense_Mutation	SNP	ENST00000370096.3	37	c.4127C>A	CCDS778.1	.	.	.	.	.	.	.	.	.	.	G	15.95	2.984368	0.53934	.	.	ENSG00000060718	ENST00000370096;ENST00000358392;ENST00000353414;ENST00000370090;ENST00000512756	D;D;D;D	0.98701	-5.08;-5.08;-5.08;-5.08	6.06	6.06	0.98353	.	0.055157	0.85682	D	0.000000	D	0.99275	0.9747	M	0.87971	2.92	0.58432	D	0.999999	D;D;D;D;D	0.89917	0.999;0.999;1.0;0.999;0.999	D;D;D;D;D	0.87578	0.945;0.975;0.998;0.945;0.975	D	0.99342	1.0912	10	0.52906	T	0.07	.	19.6279	0.95687	0.0:0.0:1.0:0.0	.	1248;1325;1376;1364;584	E9PCU0;P12107-3;P12107-2;P12107;F5H5Z5	.;.;.;COBA1_HUMAN;.	H	1364;1376;1325;584;1248	ENSP00000359114:P1364H;ENSP00000351163:P1376H;ENSP00000302551:P1325H;ENSP00000426533:P1248H	ENSP00000302551:P1325H	P	-	2	0	COL11A1	103137134	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	6.428000	0.73383	2.880000	0.98712	0.650000	0.86243	CCT		0.279	COL11A1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000029997.1	NM_080630		27	31	1	0	2.61193e-14	1	2.84738e-14	27	31					T	103364546	G	T	103364546	3	4	435	1	0	0	0	0	1	0	0	0	3667	1000	35	5	1381	5	COL11A1	1	103364546	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	305	103364546	145886075	450	21375											
COL11A1	1301	broad.mit.edu	37	chr1	103428213	103428213	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgaagcatgttgtacctttGcaccttcttttcctgcagca	7	15	7	12	0	1	1	0	1	1	0	2	1	2	1	3	0	5	6	3	0	2	6			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:103428213G>A	ENST00000370096.3	-	39	3332	c.3020C>T	c.(3019-3021)gCa>gTa	p.A1007V	COL11A1_ENST00000512756.1_Missense_Mutation_p.A891V|COL11A1_ENST00000353414.4_Missense_Mutation_p.A968V|COL11A1_ENST00000358392.2_Missense_Mutation_p.A1019V	NM_001854.3	NP_001845.3	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	1007	Triple-helical region.				cartilage condensation (GO:0001502)|chondrocyte development (GO:0002063)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|embryonic skeletal system morphogenesis (GO:0048704)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|proteoglycan metabolic process (GO:0006029)|sensory perception of sound (GO:0007605)|tendon development (GO:0035989)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visual perception (GO:0007601)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		TTGTACCTTTGCACCTTCTTT	0.463																																						ENST00000358392.2																			0				NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258						c.(3055-3057)gCa>gTa		collagen, type XI, alpha 1							92	90	91					1																	103428213		2203	4300	6503	SO:0001583	missense	1301				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging	g.chr1:103428213G>A	J04177	CCDS778.1, CCDS780.1, CCDS780.2, CCDS53348.1	1p21	2013-01-16			ENSG00000060718	ENSG00000060718		"Collagens"	2186	protein-coding gene	gene with protein product	"collagen XI, alpha-1 polypeptide"	120280		COLL6		3182841	Standard	NM_080630		Approved	STL2, CO11A1	uc001dul.3	P12107	OTTHUMG00000010872	ENST00000370096.3:c.3020C>T	1.37:g.103428213G>A	ENSP00000359114:p.Ala1007Val					COL11A1_ENST00000353414.4_Missense_Mutation_p.A968V|COL11A1_ENST00000370096.3_Missense_Mutation_p.A1007V|COL11A1_ENST00000512756.1_Missense_Mutation_p.A891V	p.A1019V	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)	39	3373	-		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)	1007			Triple-helical region.		B1ASK7|D3DT73|E9PCU0|Q14034|Q149N0|Q9UIT4|Q9UIT5|Q9UIT6	Missense_Mutation	SNP	ENST00000370096.3	37	c.3056C>T	CCDS778.1	.	.	.	.	.	.	.	.	.	.	G	23.3	4.401906	0.83120	.	.	ENSG00000060718	ENST00000370096;ENST00000358392;ENST00000353414;ENST00000370090;ENST00000512756	D;D;D;D	0.93547	-3.24;-3.24;-3.24;-3.24	5.67	5.67	0.87782	.	0.058294	0.64402	D	0.000002	D	0.93785	0.8013	L	0.29908	0.895	0.80722	D	1	D;D;D;D;D	0.71674	0.993;0.996;0.998;0.993;0.996	D;D;D;D;D	0.80764	0.956;0.99;0.994;0.978;0.98	D	0.93505	0.6848	10	0.45353	T	0.12	.	19.7741	0.96385	0.0:0.0:1.0:0.0	.	891;968;1019;1007;227	E9PCU0;P12107-3;P12107-2;P12107;F5H5Z5	.;.;.;COBA1_HUMAN;.	V	1007;1019;968;227;891	ENSP00000359114:A1007V;ENSP00000351163:A1019V;ENSP00000302551:A968V;ENSP00000426533:A891V	ENSP00000302551:A968V	A	-	2	0	COL11A1	103200801	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	6.602000	0.74141	2.673000	0.90976	0.557000	0.71058	GCA		0.463	COL11A1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000029997.1	NM_080630		15	20	0	0	0	1	0	15	20					A	103428213	G	A	103428213	3	1	435	1	0	0	0	0	1	0	0	0	3667	1319	46	3	2516	3	COL11A1	1	103428213	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	63667	103428213	145822408	451	21376											
COL11A1	1301	broad.mit.edu	37	chr1	103491098	103491098	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tcatttgtcccagaaacatgCctaggagcttctgtctggta	9	13	9	10	0	3	1	1	0	2	1	4	2	4	2	2	2	3	2	2	2	3	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:103491098C>T	ENST00000370096.3	-	7	1281	c.969G>A	c.(967-969)agG>agA	p.R323R	COL11A1_ENST00000512756.1_Intron|COL11A1_ENST00000353414.4_Silent_p.R284R|COL11A1_ENST00000358392.2_Silent_p.R335R	NM_001854.3	NP_001845.3	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	323	Nonhelical region.				cartilage condensation (GO:0001502)|chondrocyte development (GO:0002063)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|embryonic skeletal system morphogenesis (GO:0048704)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|proteoglycan metabolic process (GO:0006029)|sensory perception of sound (GO:0007605)|tendon development (GO:0035989)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visual perception (GO:0007601)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		CAGAAACATGCCTAGGAGCTT	0.333																																						ENST00000358392.2																			0				NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258						c.(1003-1005)agG>agA		collagen, type XI, alpha 1							140	133	135					1																	103491098		2203	4300	6503	SO:0001819	synonymous_variant	1301				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging	g.chr1:103491098C>T	J04177	CCDS778.1, CCDS780.1, CCDS780.2, CCDS53348.1	1p21	2013-01-16			ENSG00000060718	ENSG00000060718		"Collagens"	2186	protein-coding gene	gene with protein product	"collagen XI, alpha-1 polypeptide"	120280		COLL6		3182841	Standard	NM_080630		Approved	STL2, CO11A1	uc001dul.3	P12107	OTTHUMG00000010872	ENST00000370096.3:c.969G>A	1.37:g.103491098C>T						COL11A1_ENST00000353414.4_Silent_p.R284R|COL11A1_ENST00000370096.3_Silent_p.R323R|COL11A1_ENST00000512756.1_Intron	p.R335R	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)	7	1322	-		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)	323			Nonhelical region.		B1ASK7|D3DT73|E9PCU0|Q14034|Q149N0|Q9UIT4|Q9UIT5|Q9UIT6	Silent	SNP	ENST00000370096.3	37	c.1005G>A	CCDS778.1																																																																																				0.333	COL11A1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000029997.1	NM_080630		18	47	0	0	0	1	0	18	47					T	103491098	C	T	103491098	2	4	435	1	0	0	0	0	0	0	0	1	3667	738	26	3		3	COL11A1	1	103491098	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	62885	103491098	145759523	452	21377											
NTNG1	22854	broad.mit.edu	37	chr1	108023405	108023405	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ggcgcgcccccgcacggctcCccagcgctgctgctgctgac	3	5	13	20	5	0	1	0	1	0	0	1	1	1	1	4	2	4	6	4	2	0	0	rs549268470		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:108023405C>T	ENST00000370068.1	+	8	2409	c.1563C>T	c.(1561-1563)tcC>tcT	p.S521S	NTNG1_ENST00000370073.2_Silent_p.S521S|NTNG1_ENST00000370061.3_Silent_p.S487S|NTNG1_ENST00000542803.1_Silent_p.S521S|NTNG1_ENST00000370066.1_Silent_p.S462S|NTNG1_ENST00000370067.1_Silent_p.S442S|NTNG1_ENST00000370072.3_Silent_p.S476S|NTNG1_ENST00000370070.2_Silent_p.S442S|NTNG1_ENST00000370065.1_Silent_p.S476S|NTNG1_ENST00000370074.4_Silent_p.S420S|NTNG1_ENST00000370071.2_Silent_p.S462S			Q9Y2I2	NTNG1_HUMAN	netrin G1	521				S -> T (in Ref. 2; AAQ88731). {ECO:0000305}.	axonogenesis (GO:0007409)	anchored component of plasma membrane (GO:0046658)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|soft_tissue(1)|urinary_tract(1)	37		all_epithelial(167;1.39e-05)|all_lung(203;0.000115)|Lung NSC(277;0.000238)|Breast(1374;0.243)		Lung(183;0.0946)|BRCA - Breast invasive adenocarcinoma(282;0.237)|Epithelial(280;0.245)		CGCACGGCTCCCCAGCGCTGC	0.721													C|||	1	0.000199681	0	0	5008	,	,		11048	0		0	False		,,,				2504	0.001					ENST00000370067.1																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|soft_tissue(1)|urinary_tract(1)	37						c.(1324-1326)tcC>tcT		netrin G1							8	9	9					1																	108023405		2185	4248	6433	SO:0001819	synonymous_variant	22854				axonogenesis	anchored to plasma membrane	protein binding	g.chr1:108023405C>T	AB023193	CCDS30785.1, CCDS44179.1, CCDS44180.1	1p13.2-p13.1	2013-03-01			ENSG00000162631	ENSG00000162631		"Netrins"	23319	protein-coding gene	gene with protein product	"netrin G1f", "Netrin-G1"	608818				10964959	Standard	NM_001113226		Approved	KIAA0976, Lmnt1	uc001dvh.4	Q9Y2I2	OTTHUMG00000010965	ENST00000370068.1:c.1563C>T	1.37:g.108023405C>T						NTNG1_ENST00000370072.3_Silent_p.S476S|NTNG1_ENST00000370074.4_Silent_p.S420S|NTNG1_ENST00000370061.3_Silent_p.S487S|NTNG1_ENST00000370065.1_Silent_p.S476S|NTNG1_ENST00000370066.1_Silent_p.S462S|NTNG1_ENST00000370073.2_Silent_p.S521S|NTNG1_ENST00000370068.1_Silent_p.S521S|NTNG1_ENST00000370070.2_Silent_p.S442S|NTNG1_ENST00000542803.1_Silent_p.S521S|NTNG1_ENST00000370071.2_Silent_p.S462S	p.S442S			Q9Y2I2	NTNG1_HUMAN		Lung(183;0.0946)|BRCA - Breast invasive adenocarcinoma(282;0.237)|Epithelial(280;0.245)	7	1953	+		all_epithelial(167;1.39e-05)|all_lung(203;0.000115)|Lung NSC(277;0.000238)|Breast(1374;0.243)	521			Laminin EGF-like 3.		Q5VU86|Q5VU87|Q5VU89|Q5VU90|Q5VU91|Q7Z2Y3|Q8N633	Silent	SNP	ENST00000370068.1	37	c.1326C>T	CCDS44180.1																																																																																				0.721	NTNG1-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000030340.1	NM_014917		4	1	0	0	0	1	0	4	1					T	108023405	C	T	108023405	2	4	435	1	0	0	0	0	0	0	0	1	10704	610	22	3		3	NTNG1	1	108023405	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	4532307	108023405	141227216	453	21378											
VAV3	10451	broad.mit.edu	37	chr1	108185257	108185257	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtacctgccaaaacagactgTgtgcatctcctttcagaagt	11	11	8	11	0	2	2	1	0	1	2	3	2	2	2	3	0	4	2	3	0	4	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:108185257T>C	ENST00000370056.4	-	20	2172	c.1898A>G	c.(1897-1899)cAc>cGc	p.H633R	VAV3_ENST00000544443.1_Missense_Mutation_p.H37R|VAV3_ENST00000415432.2_Missense_Mutation_p.H73R|VAV3_ENST00000527011.1_Missense_Mutation_p.H633R|VAV3_ENST00000343258.4_5'UTR	NM_006113.4	NP_006104.4	Q9UKW4	VAV3_HUMAN	vav 3 guanine nucleotide exchange factor	633	SH3 1. {ECO:0000255|PROSITE- ProRule:PRU00192}.|Sufficient for interaction with ROS1.				angiogenesis (GO:0001525)|apoptotic signaling pathway (GO:0097190)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|cellular response to DNA damage stimulus (GO:0006974)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|lamellipodium assembly (GO:0030032)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil chemotaxis (GO:0030593)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cell adhesion (GO:0045785)|positive regulation of GTPase activity (GO:0043547)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of signal transduction (GO:0009967)|regulation of Rac GTPase activity (GO:0032314)|regulation of small GTPase mediated signal transduction (GO:0051056)|response to drug (GO:0042493)|small GTPase mediated signal transduction (GO:0007264)|vesicle fusion (GO:0006906)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|SH3/SH2 adaptor activity (GO:0005070)			NS(2)|breast(5)|endometrium(4)|kidney(2)|large_intestine(14)|lung(20)|ovary(6)|prostate(3)|stomach(1)|urinary_tract(1)	58		all_epithelial(167;5.38e-05)|all_lung(203;0.000314)|Lung NSC(277;0.000594)		Colorectal(144;0.0331)|Lung(183;0.128)|Epithelial(280;0.204)		AAACAGACTGTGTGCATCTCC	0.517																																						ENST00000370056.4																			0				NS(2)|breast(5)|endometrium(4)|kidney(2)|large_intestine(14)|lung(20)|ovary(6)|prostate(3)|stomach(1)|urinary_tract(1)	58						c.(1897-1899)cAc>cGc		vav 3 guanine nucleotide exchange factor							95	97	96					1																	108185257		2203	4300	6503	SO:0001583	missense	10451				angiogenesis|apoptosis|B cell receptor signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of B cell proliferation|regulation of Rho protein signal transduction|response to DNA damage stimulus|response to drug|small GTPase mediated signal transduction	cytosol	GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity	g.chr1:108185257T>C	AF118886	CCDS785.1, CCDS44181.1	1p13.3	2013-02-14	2007-07-25		ENSG00000134215	ENSG00000134215		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing", "SH2 domain containing"	12659	protein-coding gene	gene with protein product		605541	"vav 3 oncogene"				Standard	NM_001079874		Approved		uc001dvk.1	Q9UKW4	OTTHUMG00000010995	ENST00000370056.4:c.1898A>G	1.37:g.108185257T>C	ENSP00000359073:p.His633Arg					VAV3_ENST00000415432.2_Missense_Mutation_p.H73R|VAV3_ENST00000544443.1_Missense_Mutation_p.H37R|VAV3_ENST00000527011.1_Missense_Mutation_p.H633R|VAV3_ENST00000343258.4_5'UTR	p.H633R	NM_006113.4	NP_006104.4	Q9UKW4	VAV3_HUMAN		Colorectal(144;0.0331)|Lung(183;0.128)|Epithelial(280;0.204)	20	2172	-		all_epithelial(167;5.38e-05)|all_lung(203;0.000314)|Lung NSC(277;0.000594)	633			SH3 1.		B1AMM0|B1APV5|B4E232|B7ZLR1|E9PQ97|O60498|O95230|Q9Y5X8	Missense_Mutation	SNP	ENST00000370056.4	37	c.1898A>G	CCDS785.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	17.47|17.47	3.398262|3.398262	0.62177|0.62177	.|.	.|.	ENSG00000134215|ENSG00000134215	ENST00000370056;ENST00000527011;ENST00000544443;ENST00000415432|ENST00000529809	T;T;T;T|.	0.28666|.	1.6;3.16;3.16;1.6|.	5.37|5.37	5.37|5.37	0.77165|0.77165	Src homology-3 domain (3);Variant SH3 (1);|.	0.147825|.	0.64402|.	D|.	0.000011|.	T|T	0.58623|0.58623	0.2135|0.2135	L|L	0.52266|0.52266	1.64|1.64	0.80722|0.80722	D|D	1|1	B;P;B;P|.	0.51240|.	0.117;0.943;0.407;0.93|.	B;P;B;P|.	0.52109|.	0.129;0.69;0.405;0.642|.	T|T	0.58526|0.58526	-0.7621|-0.7621	10|5	0.54805|.	T|.	0.06|.	.|.	15.3361|15.3361	0.74255|0.74255	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	633;37;633;73|.	E9PQ97;B7Z3Z5;Q9UKW4;Q9UKW4-3|.	.;.;VAV3_HUMAN;.|.	R|A	633;633;37;73|161	ENSP00000359073:H633R;ENSP00000432540:H633R;ENSP00000446404:H37R;ENSP00000394897:H73R|.	ENSP00000359073:H633R|.	H|T	-|-	2|1	0|0	VAV3|VAV3	107986780|107986780	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.968000|0.968000	0.65278|0.65278	5.042000|5.042000	0.64202|0.64202	2.167000|2.167000	0.68274|0.68274	0.454000|0.454000	0.30748|0.30748	CAC|ACA		0.517	VAV3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030242.2	NM_006113		17	20	0	0	0	1	0	17	20					C	108185257	T	C	108185257	3	2	435	1	0	0	0	0	1	0	0	0	17130	1696	59	4	677	4	VAV3	1	108185257	Missense_Mutation	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	161852	108185257	141065364	454	21379											
PRPF38B	55119	broad.mit.edu	37	chr1	109241902	109241902	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aattagaaagagagaaagaaCgccagcgactagagcgtgaa	19	4	12	6	3	0	6	0	1	0	5	0	8	0	6	1	0	3	0	1	0	7	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:109241902C>T	ENST00000370025.4	+	6	1170	c.901C>T	c.(901-903)Cgc>Tgc	p.R301C	PRPF38B_ENST00000370021.1_Missense_Mutation_p.R190C	NM_018061.2	NP_060531.2	Q5VTL8	PR38B_HUMAN	pre-mRNA processing factor 38B	301	Arg-rich.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	spliceosomal complex (GO:0005681)	poly(A) RNA binding (GO:0044822)			NS(1)|kidney(3)|large_intestine(5)|lung(8)|prostate(1)|skin(1)	19		all_epithelial(167;0.000154)|all_lung(203;0.00026)|Lung NSC(277;0.000508)		Colorectal(144;0.0149)|Lung(183;0.0888)|COAD - Colon adenocarcinoma(174;0.113)|Epithelial(280;0.161)		AGAGAAAGAACGCCAGCGACT	0.517																																						ENST00000370021.1																			0				NS(1)|kidney(3)|large_intestine(5)|lung(8)|prostate(1)|skin(1)	19						c.(568-570)Cgc>Tgc		pre-mRNA processing factor 38B							72	76	75					1																	109241902		2203	4300	6503	SO:0001583	missense	55119				mRNA processing|RNA splicing	spliceosomal complex		g.chr1:109241902C>T	AL833950	CCDS788.1	1p13.3	2013-10-03	2013-10-03		ENSG00000134186	ENSG00000134186			25512	protein-coding gene	gene with protein product			"PRP38 pre-mRNA processing factor 38 (yeast) domain containing B"				Standard	NM_018061		Approved	FLJ10330, NET1	uc001dvv.4	Q5VTL8	OTTHUMG00000010991	ENST00000370025.4:c.901C>T	1.37:g.109241902C>T	ENSP00000359042:p.Arg301Cys					PRPF38B_ENST00000370025.4_Missense_Mutation_p.R301C	p.R190C			Q5VTL8	PR38B_HUMAN		Colorectal(144;0.0149)|Lung(183;0.0888)|COAD - Colon adenocarcinoma(174;0.113)|Epithelial(280;0.161)	7	1205	+		all_epithelial(167;0.000154)|all_lung(203;0.00026)|Lung NSC(277;0.000508)	301					Q05DD6|Q32Q58|Q5VTL9|Q6PK39|Q7Z6E2|Q86WF3|Q8IWG9|Q9NW40	Missense_Mutation	SNP	ENST00000370025.4	37	c.568C>T	CCDS788.1	.	.	.	.	.	.	.	.	.	.	C	15.85	2.955059	0.53293	.	.	ENSG00000134186	ENST00000370025;ENST00000370021	T;T	0.23348	1.91;2.48	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	T	0.35098	0.0920	L	0.34521	1.04	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.13548	-1.0505	10	0.72032	D	0.01	.	19.8041	0.96521	0.0:1.0:0.0:0.0	.	301	Q5VTL8	PR38B_HUMAN	C	301;190	ENSP00000359042:R301C;ENSP00000359038:R190C	ENSP00000359038:R190C	R	+	1	0	PRPF38B	109043425	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.092000	0.76930	2.698000	0.92095	0.591000	0.81541	CGC		0.517	PRPF38B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030231.1	NM_018061		14	30	0	0	0	1	0	14	30					T	109241902	C	T	109241902	3	4	435	1	0	0	0	0	1	0	0	0	12568	536	19	1	923	1	PRPF38B	1	109241902	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	1056645	109241902	140008719	455	21380											
FNDC7	163479	broad.mit.edu	37	chr1	109271293	109271293	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aaaaaatgtttcaagggatgCattctccatgattaatgtgc	14	13	8	6	0	2	1	1	1	1	0	3	2	2	2	1	1	2	2	1	1	5	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:109271293C>T	ENST00000370017.3	+	8	1686	c.1409C>T	c.(1408-1410)gCa>gTa	p.A470V	FNDC7_ENST00000271311.2_Missense_Mutation_p.A471V	NM_001144937.1	NP_001138409.1	Q5VTL7	FNDC7_HUMAN	fibronectin type III domain containing 7	470	Fibronectin type-III 6. {ECO:0000255|PROSITE-ProRule:PRU00316}.					extracellular region (GO:0005576)				breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|skin(4)|stomach(1)|urinary_tract(1)	20		all_lung(203;0.00439)|Lung NSC(277;0.00683)|all_epithelial(167;0.00728)		Colorectal(144;0.0314)|Lung(183;0.0924)|COAD - Colon adenocarcinoma(174;0.119)|Epithelial(280;0.173)|all cancers(265;0.244)		TCAAGGGATGCATTCTCCATG	0.413																																						ENST00000370017.3																			0				breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|skin(4)|stomach(1)|urinary_tract(1)	20						c.(1408-1410)gCa>gTa		fibronectin type III domain containing 7							111	101	104					1																	109271293		2203	4300	6503	SO:0001583	missense	163479					extracellular region		g.chr1:109271293C>T		CCDS44185.1	1p13.3	2013-02-11			ENSG00000143107	ENSG00000143107		"Fibronectin type III domain containing"	26668	protein-coding gene	gene with protein product						12477932	Standard	NM_001144937		Approved	FLJ35838	uc001dvx.3	Q5VTL7	OTTHUMG00000011120	ENST00000370017.3:c.1409C>T	1.37:g.109271293C>T	ENSP00000359034:p.Ala470Val					FNDC7_ENST00000271311.2_Missense_Mutation_p.A471V	p.A470V	NM_001144937.1	NP_001138409.1	Q5VTL7	FNDC7_HUMAN		Colorectal(144;0.0314)|Lung(183;0.0924)|COAD - Colon adenocarcinoma(174;0.119)|Epithelial(280;0.173)|all cancers(265;0.244)	8	1686	+		all_lung(203;0.00439)|Lung NSC(277;0.00683)|all_epithelial(167;0.00728)	471			Fibronectin type-III 6.		A1L468|E9PAZ5|Q6PF16|Q8NA51	Missense_Mutation	SNP	ENST00000370017.3	37	c.1409C>T	CCDS44185.1	.	.	.	.	.	.	.	.	.	.	C	11.94	1.787383	0.31593	.	.	ENSG00000143107	ENST00000370017;ENST00000271311	T;T	0.24723	2.1;1.84	5.91	2.9	0.33743	Fibronectin, type III (3);	0.333679	0.36101	N	0.002790	T	0.08670	0.0215	L	0.57536	1.79	0.09310	N	1	B;B	0.30021	0.04;0.265	B;B	0.26969	0.075;0.054	T	0.22347	-1.0219	10	0.37606	T	0.19	-2.6167	6.521	0.22275	0.2388:0.5823:0.1153:0.0636	.	471;470	Q5VTL7;E9PAZ5	FNDC7_HUMAN;.	V	470;471	ENSP00000359034:A470V;ENSP00000271311:A471V	ENSP00000271311:A471V	A	+	2	0	FNDC7	109072816	0.002000	0.14202	0.008000	0.14137	0.625000	0.37756	0.464000	0.21988	0.343000	0.23821	0.555000	0.69702	GCA		0.413	FNDC7-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030589.4	NM_173532		15	45	0	0	0	1	0	15	45					T	109271293	C	T	109271293	3	4	435	1	0	0	0	0	1	0	0	0	5973	710	25	3	1439	3	FNDC7	1	109271293	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	29391	109271293	139979328	456	21381											
AKNAD1	254268	broad.mit.edu	37	chr1	109369845	109369845	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actgggagttgaatctgagtGtggtgccttttcatgaagga	9	13	14	5	0	2	3	1	3	1	0	2	5	2	5	1	3	1	1	1	3	2	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:109369845G>A	ENST00000370001.3	-	11	2186	c.1918C>T	c.(1918-1920)Cac>Tac	p.H640Y	AKNAD1_ENST00000369994.1_Missense_Mutation_p.H610Y|AKNAD1_ENST00000369995.3_Missense_Mutation_p.H640Y|AKNAD1_ENST00000357393.4_Missense_Mutation_p.H347Y	NM_152763.4	NP_689976.2	Q5T1N1	AKND1_HUMAN	AKNA domain containing 1	640						cytoplasm (GO:0005737)				breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|prostate(6)|skin(3)|stomach(2)	32						GAATCTGAGTGTGGTGCCTTT	0.488																																						ENST00000370001.3																			0				breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|prostate(6)|skin(3)|stomach(2)	32						c.(1918-1920)Cac>Tac		AKNA domain containing 1							257	258	258					1																	109369845		2203	4299	6502	SO:0001583	missense	254268							g.chr1:109369845G>A	AK095517	CCDS791.2	1p13.3	2009-10-29	2009-10-29	2009-10-29	ENSG00000162641	ENSG00000162641			28398	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 62"	C1orf62			Standard	NM_152763		Approved	MGC26989	uc001dwa.4	Q5T1N1	OTTHUMG00000011231	ENST00000370001.3:c.1918C>T	1.37:g.109369845G>A	ENSP00000359018:p.His640Tyr					AKNAD1_ENST00000369994.1_Missense_Mutation_p.H610Y|AKNAD1_ENST00000369995.3_Missense_Mutation_p.H640Y|AKNAD1_ENST00000357393.4_Missense_Mutation_p.H347Y	p.H640Y	NM_152763.4	NP_689976.2	Q5T1N1	AKND1_HUMAN			11	2186	-			640					B9EK62|Q5T1N0|Q8N990|Q8NCN9	Missense_Mutation	SNP	ENST00000370001.3	37	c.1918C>T	CCDS791.2	.	.	.	.	.	.	.	.	.	.	G	7.248	0.602714	0.13939	.	.	ENSG00000162641	ENST00000370001;ENST00000357393;ENST00000369994;ENST00000369995	T;T;T;T	0.18810	2.19;2.19;2.19;2.19	5.0	0.0324	0.14175	.	2.284390	0.01766	N	0.030868	T	0.04861	0.0131	L	0.27053	0.805	0.09310	N	1	B;B	0.15141	0.012;0.001	B;B	0.09377	0.004;0.002	T	0.33803	-0.9854	10	0.54805	T	0.06	2.1679	3.0637	0.06207	0.3971:0.0:0.4131:0.1899	.	347;640	B4DET8;Q5T1N1	.;AKND1_HUMAN	Y	640;347;610;640	ENSP00000359018:H640Y;ENSP00000349968:H347Y;ENSP00000359011:H610Y;ENSP00000359012:H640Y	ENSP00000349968:H347Y	H	-	1	0	AKNAD1	109171368	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.552000	0.06020	0.199000	0.20427	-0.367000	0.07326	CAC		0.488	AKNAD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030923.2	NM_152763		86	157	0	0	0	1	0	86	157					A	109369845	G	A	109369845	3	1	435	1	0	0	0	0	1	0	0	0	464	1377	48	3	616	3	AKNAD1	1	109369845	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	98552	109369845	139880776	457	21382											
GPSM2	29899	broad.mit.edu	37	chr1	109465125	109465125	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aggatggatgatcagagatgTtgcttacaagaaaagaactg	16	9	12	4	0	1	4	1	1	0	3	1	7	1	6	0	2	3	2	0	2	5	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:109465125T>C	ENST00000406462.2	+	14	2300	c.1527T>C	c.(1525-1527)tgT>tgC	p.C509C	AKNAD1_ENST00000357393.4_Intron|GPSM2_ENST00000264126.3_Silent_p.C509C			P81274	GPSM2_HUMAN	G-protein signaling modulator 2	509	GoLoco 1. {ECO:0000255|PROSITE- ProRule:PRU00097}.				establishment of mitotic spindle orientation (GO:0000132)|G-protein coupled receptor signaling pathway (GO:0007186)|lung epithelial cell differentiation (GO:0060487)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	GTPase regulator activity (GO:0030695)|identical protein binding (GO:0042802)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(2)|lung(3)	14		all_epithelial(167;7.64e-05)|all_lung(203;0.000321)|Lung NSC(277;0.000626)		Colorectal(144;0.0353)|Lung(183;0.0984)|COAD - Colon adenocarcinoma(174;0.129)|Epithelial(280;0.175)|all cancers(265;0.209)		ATCAGAGATGTTGCTTACAAG	0.378																																						ENST00000406462.1																			0				breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(2)|lung(3)	14						c.(1525-1527)tgT>tgC		G-protein signaling modulator 2							161	158	159					1																	109465125		2203	4300	6503	SO:0001819	synonymous_variant	29899				G-protein coupled receptor protein signaling pathway	cell cortex|nucleus	GTPase activator activity|identical protein binding	g.chr1:109465125T>C	AY136740	CCDS792.2	1p13.3	2013-10-11	2010-06-24		ENSG00000121957	ENSG00000121957		"Tetratricopeptide (TTC) repeat domain containing"	29501	protein-coding gene	gene with protein product		609245	"G-protein signalling modulator 2 (AGS3-like, C. elegans)", "deafness, autosomal recessive 82"	DFNB82		11832491, 8973305, 19888295, 20602914, 21348867	Standard	NM_013296		Approved	LGN, Pins	uc010ovc.2	P81274	OTTHUMG00000011730	ENST00000406462.2:c.1527T>C	1.37:g.109465125T>C						GPSM2_ENST00000264126.3_Silent_p.C509C|AKNAD1_ENST00000357393.4_Intron	p.C509C			P81274	GPSM2_HUMAN		Colorectal(144;0.0353)|Lung(183;0.0984)|COAD - Colon adenocarcinoma(174;0.129)|Epithelial(280;0.175)|all cancers(265;0.209)	14	2300	+		all_epithelial(167;7.64e-05)|all_lung(203;0.000321)|Lung NSC(277;0.000626)	509			GoLoco 1.		Q5T1N8|Q6IBL7|Q8N0Z5	Silent	SNP	ENST00000406462.2	37	c.1527T>C	CCDS792.2	.	.	.	.	.	.	.	.	.	.	T	0.772	-0.765352	0.02996	.	.	ENSG00000121957	ENST00000441735	.	.	.	6.17	-1.47	0.08772	.	.	.	.	.	T	0.37945	0.1022	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.36986	-0.9725	4	.	.	.	-8.8353	7.8365	0.29374	0.0:0.3548:0.1137:0.5315	.	.	.	.	A	99	.	.	V	+	2	0	GPSM2	109266648	0.973000	0.33851	0.928000	0.36995	0.000000	0.00434	0.268000	0.18571	-0.283000	0.09115	-1.117000	0.02048	GTT		0.378	GPSM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032400.3	NM_013296		42	72	0	0	0	1	0	42	72					C	109465125	T	C	109465125	2	2	435	1	0	0	0	0	0	0	0	1	6735	1731	60	4		4	GPSM2	1	109465125	Silent	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	95280	109465125	139785496	458	21383											
C1orf194	127003	broad.mit.edu	37	chr1	109650563	109650563	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcgggatcaaaatagtaggCatcccgcctcatggaagtaa	13	8	10	10	2	2	0	2	0	0	0	4	2	3	2	2	3	0	3	2	3	6	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:109650563C>T	ENST00000369948.3	-	2	253	c.178G>A	c.(178-180)Gcc>Acc	p.A60T	C1orf194_ENST00000369949.4_Missense_Mutation_p.A48T|C1orf194_ENST00000369945.3_Intron			Q5T5A4	CA194_HUMAN	chromosome 1 open reading frame 194	60										large_intestine(2)|lung(2)|ovary(2)	6						AAATAGTAGGCATCCCGCCTC	0.473																																						ENST00000369949.4																			0				large_intestine(2)|lung(2)|ovary(2)	6						c.(142-144)Gcc>Acc		chromosome 1 open reading frame 194							101	97	98					1																	109650563		1568	3582	5150	SO:0001583	missense	127003							g.chr1:109650563C>T		CCDS41364.1	1p13.3	2011-03-31			ENSG00000179902	ENSG00000179902			32331	protein-coding gene	gene with protein product							Standard	NM_001122961		Approved		uc009wew.3	Q5T5A4	OTTHUMG00000011735	ENST00000369948.3:c.178G>A	1.37:g.109650563C>T	ENSP00000358964:p.Ala60Thr					C1orf194_ENST00000369945.3_Intron|C1orf194_ENST00000369948.3_Missense_Mutation_p.A60T	p.A48T	NM_001122961.1	NP_001116433.1	Q5T5A4	CA194_HUMAN			2	321	-			60					Q5T5A3	Missense_Mutation	SNP	ENST00000369948.3	37	c.142G>A		.	.	.	.	.	.	.	.	.	.	c	3.529	-0.096088	0.07010	.	.	ENSG00000179902	ENST00000369949;ENST00000369948	.	.	.	3.93	-1.95	0.07548	.	0.965866	0.08430	N	0.947037	T	0.09335	0.0230	L	0.31752	0.955	0.09310	N	1	B;B	0.13145	0.007;0.006	B;B	0.12156	0.007;0.006	T	0.31251	-0.9950	9	0.48119	T	0.1	-0.9105	0.8665	0.01205	0.1623:0.3797:0.1588:0.2992	.	48;60	Q5T5A4-2;Q5T5A4	.;CA194_HUMAN	T	48;60	.	ENSP00000358964:A60T	A	-	1	0	C1orf194	109452086	0.000000	0.05858	0.000000	0.03702	0.515000	0.34225	-0.582000	0.05814	-0.483000	0.06772	-0.524000	0.04348	GCC		0.473	C1orf194-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000032416.2	NM_001122961		17	19	0	0	0	1	0	17	19					T	109650563	C	T	109650563	3	4	435	1	0	0	0	0	1	0	0	0	2025	710	25	3	347	3	C1orf194	1	109650563	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	185438	109650563	139600058	459	21384											
KIAA1324	57535	broad.mit.edu	37	chr1	109714585	109714585	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acctgaagcaatctggcaccGttaacttcgaatactactat	13	11	6	11	2	1	1	0	1	1	0	2	2	1	1	2	1	4	3	2	1	7	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:109714585G>A	ENST00000369939.3	+	4	748	c.565G>A	c.(565-567)Gtt>Att	p.V189I	KIAA1324_ENST00000529753.1_Missense_Mutation_p.V189I	NM_020775.4	NP_065826	Q6UXG2	K1324_HUMAN	KIAA1324	189					cellular response to starvation (GO:0009267)|macroautophagy (GO:0016236)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|positive regulation of autophagic vacuole assembly (GO:2000786)|positive regulation of vacuole organization (GO:0044090)	endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34		all_epithelial(167;0.000102)|all_lung(203;0.000323)|Lung NSC(277;0.00063)		Colorectal(144;0.0188)|Lung(183;0.0527)|COAD - Colon adenocarcinoma(174;0.14)|Epithelial(280;0.21)|all cancers(265;0.249)		ATCTGGCACCGTTAACTTCGA	0.547																																						ENST00000369939.3																			0				NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34						c.(565-567)Gtt>Att		KIAA1324							157	132	140					1																	109714585		2203	4300	6503	SO:0001583	missense	57535				macroautophagy|positive regulation of vacuole organization|regulation of apoptosis	integral to plasma membrane		g.chr1:109714585G>A	AK057647	CCDS794.1, CCDS58015.1	1p13.3	2008-09-18			ENSG00000116299	ENSG00000116299			29618	protein-coding gene	gene with protein product	"estrogen induced gene 121"	611298				10718198, 16322283	Standard	NM_020775		Approved	maba1, EIG121	uc021orb.1	Q6UXG2	OTTHUMG00000011725	ENST00000369939.3:c.565G>A	1.37:g.109714585G>A	ENSP00000358955:p.Val189Ile					KIAA1324_ENST00000529753.1_Missense_Mutation_p.V189I	p.V189I	NM_020775.4	NP_065826.2	Q6UXG2	K1324_HUMAN		Colorectal(144;0.0188)|Lung(183;0.0527)|COAD - Colon adenocarcinoma(174;0.14)|Epithelial(280;0.21)|all cancers(265;0.249)	4	748	+		all_epithelial(167;0.000102)|all_lung(203;0.000323)|Lung NSC(277;0.00063)	189					Q08AE6|Q5T5C9|Q5T5D0|Q5T5D1|Q9P2M2	Missense_Mutation	SNP	ENST00000369939.3	37	c.565G>A	CCDS794.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.107691	0.77096	.	.	ENSG00000116299	ENST00000531664;ENST00000369939;ENST00000457623;ENST00000529753	T;T;T;T	0.35048	1.33;1.33;1.33;1.33	5.99	5.99	0.97316	.	0.000000	0.85682	D	0.000000	T	0.50973	0.1647	M	0.64567	1.98	0.39531	D	0.968669	D;D;D;D	0.89917	0.997;1.0;0.998;0.998	P;D;P;P	0.81914	0.823;0.995;0.868;0.868	T	0.21690	-1.0238	10	0.28530	T	0.3	-22.4934	20.0857	0.97800	0.0:0.0:1.0:0.0	.	189;189;189;189	Q6UXG2-4;Q6UXG2-3;C9J810;Q6UXG2	.;.;.;K1324_HUMAN	I	189	ENSP00000431349:V189I;ENSP00000358955:V189I;ENSP00000393964:V189I;ENSP00000434595:V189I	ENSP00000358955:V189I	V	+	1	0	KIAA1324	109516108	1.000000	0.71417	0.556000	0.28293	0.646000	0.38490	6.544000	0.73878	2.844000	0.97970	0.650000	0.86243	GTT		0.547	KIAA1324-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032389.2	NM_020775		37	52	0	0	0	1	0	37	52					A	109714585	G	A	109714585	3	1	435	1	0	0	0	0	1	0	0	0	8223	1145	40	1	579	1	KIAA1324	1	109714585	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	64022	109714585	139536036	460	21385											
KIAA1324	57535	broad.mit.edu	37	chr1	109716141	109716141	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctctattggagaaccacaGccttctcagtatggaccaaa	12	10	7	12	0	2	1	1	0	2	1	4	3	3	2	4	2	2	1	4	2	4	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:109716141G>A	ENST00000369939.3	+	6	925	c.742G>A	c.(742-744)Gcc>Acc	p.A248T	KIAA1324_ENST00000529753.1_Missense_Mutation_p.A248T	NM_020775.4	NP_065826	Q6UXG2	K1324_HUMAN	KIAA1324	248					cellular response to starvation (GO:0009267)|macroautophagy (GO:0016236)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|positive regulation of autophagic vacuole assembly (GO:2000786)|positive regulation of vacuole organization (GO:0044090)	endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34		all_epithelial(167;0.000102)|all_lung(203;0.000323)|Lung NSC(277;0.00063)		Colorectal(144;0.0188)|Lung(183;0.0527)|COAD - Colon adenocarcinoma(174;0.14)|Epithelial(280;0.21)|all cancers(265;0.249)		GAGAACCACAGCCTTCTCAGT	0.453																																						ENST00000369939.3																			0				NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34						c.(742-744)Gcc>Acc		KIAA1324							181	162	168					1																	109716141		2203	4300	6503	SO:0001583	missense	57535				macroautophagy|positive regulation of vacuole organization|regulation of apoptosis	integral to plasma membrane		g.chr1:109716141G>A	AK057647	CCDS794.1, CCDS58015.1	1p13.3	2008-09-18			ENSG00000116299	ENSG00000116299			29618	protein-coding gene	gene with protein product	"estrogen induced gene 121"	611298				10718198, 16322283	Standard	NM_020775		Approved	maba1, EIG121	uc021orb.1	Q6UXG2	OTTHUMG00000011725	ENST00000369939.3:c.742G>A	1.37:g.109716141G>A	ENSP00000358955:p.Ala248Thr					KIAA1324_ENST00000529753.1_Missense_Mutation_p.A248T	p.A248T	NM_020775.4	NP_065826.2	Q6UXG2	K1324_HUMAN		Colorectal(144;0.0188)|Lung(183;0.0527)|COAD - Colon adenocarcinoma(174;0.14)|Epithelial(280;0.21)|all cancers(265;0.249)	6	925	+		all_epithelial(167;0.000102)|all_lung(203;0.000323)|Lung NSC(277;0.00063)	248					Q08AE6|Q5T5C9|Q5T5D0|Q5T5D1|Q9P2M2	Missense_Mutation	SNP	ENST00000369939.3	37	c.742G>A	CCDS794.1	.	.	.	.	.	.	.	.	.	.	g	24.8	4.569335	0.86439	.	.	ENSG00000116299	ENST00000369939;ENST00000457623;ENST00000529753	T;T;T	0.44482	0.92;0.92;0.92	5.0	5.0	0.66597	.	0.190555	0.43747	D	0.000526	T	0.46737	0.1408	L	0.43152	1.355	0.28334	N	0.921646	D;D;D;D	0.89917	1.0;0.986;1.0;1.0	D;P;D;D	0.74348	0.983;0.791;0.983;0.976	T	0.40098	-0.9581	10	0.48119	T	0.1	-30.6529	17.9254	0.88982	0.0:0.0:1.0:0.0	.	248;248;248;248	Q6UXG2-4;Q6UXG2-3;C9J810;Q6UXG2	.;.;.;K1324_HUMAN	T	248	ENSP00000358955:A248T;ENSP00000393964:A248T;ENSP00000434595:A248T	ENSP00000358955:A248T	A	+	1	0	KIAA1324	109517664	1.000000	0.71417	0.895000	0.35142	0.935000	0.57460	6.527000	0.73803	2.324000	0.78689	0.645000	0.84053	GCC		0.453	KIAA1324-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032389.2	NM_020775		37	64	0	0	0	1	0	37	64					A	109716141	G	A	109716141	3	1	435	1	0	0	0	0	1	0	0	0	8223	971	34	3	764	3	KIAA1324	1	109716141	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	1556	109716141	139534480	461	21386											
KIAA1324	57535	broad.mit.edu	37	chr1	109727693	109727693	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gatcttcttcctgtaacgtgCgcccagcttgcacagacaaa	10	10	8	13	2	2	1	0	0	2	1	3	2	3	1	2	0	4	3	2	0	2	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:109727693C>T	ENST00000369939.3	+	8	1162	c.979C>T	c.(979-981)Cgc>Tgc	p.R327C	KIAA1324_ENST00000529753.1_Intron	NM_020775.4	NP_065826	Q6UXG2	K1324_HUMAN	KIAA1324	327					cellular response to starvation (GO:0009267)|macroautophagy (GO:0016236)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|positive regulation of autophagic vacuole assembly (GO:2000786)|positive regulation of vacuole organization (GO:0044090)	endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34		all_epithelial(167;0.000102)|all_lung(203;0.000323)|Lung NSC(277;0.00063)		Colorectal(144;0.0188)|Lung(183;0.0527)|COAD - Colon adenocarcinoma(174;0.14)|Epithelial(280;0.21)|all cancers(265;0.249)		CTGTAACGTGCGCCCAGCTTG	0.493																																						ENST00000369939.3																			0				NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34						c.(979-981)Cgc>Tgc		KIAA1324							135	132	133					1																	109727693		2203	4300	6503	SO:0001583	missense	57535				macroautophagy|positive regulation of vacuole organization|regulation of apoptosis	integral to plasma membrane		g.chr1:109727693C>T	AK057647	CCDS794.1, CCDS58015.1	1p13.3	2008-09-18			ENSG00000116299	ENSG00000116299			29618	protein-coding gene	gene with protein product	"estrogen induced gene 121"	611298				10718198, 16322283	Standard	NM_020775		Approved	maba1, EIG121	uc021orb.1	Q6UXG2	OTTHUMG00000011725	ENST00000369939.3:c.979C>T	1.37:g.109727693C>T	ENSP00000358955:p.Arg327Cys					KIAA1324_ENST00000529753.1_Intron	p.R327C	NM_020775.4	NP_065826.2	Q6UXG2	K1324_HUMAN		Colorectal(144;0.0188)|Lung(183;0.0527)|COAD - Colon adenocarcinoma(174;0.14)|Epithelial(280;0.21)|all cancers(265;0.249)	8	1162	+		all_epithelial(167;0.000102)|all_lung(203;0.000323)|Lung NSC(277;0.00063)	327					Q08AE6|Q5T5C9|Q5T5D0|Q5T5D1|Q9P2M2	Missense_Mutation	SNP	ENST00000369939.3	37	c.979C>T	CCDS794.1	.	.	.	.	.	.	.	.	.	.	C	19.15	3.770837	0.69992	.	.	ENSG00000116299	ENST00000369939;ENST00000457623	T;T	0.51574	0.7;0.7	5.33	5.33	0.75918	Growth factor, receptor (1);	0.000000	0.85682	D	0.000000	T	0.54532	0.1864	L	0.46741	1.465	0.80722	D	1	D;D;P	0.89917	1.0;1.0;0.845	D;D;B	0.69479	0.964;0.961;0.175	T	0.53634	-0.8411	10	0.48119	T	0.1	-1.8268	17.7802	0.88522	0.0:1.0:0.0:0.0	.	327;327;327	Q6UXG2-4;C9J810;Q6UXG2	.;.;K1324_HUMAN	C	327;277	ENSP00000358955:R327C;ENSP00000393964:R277C	ENSP00000358955:R327C	R	+	1	0	KIAA1324	109529216	1.000000	0.71417	0.980000	0.43619	0.968000	0.65278	4.914000	0.63348	2.501000	0.84356	0.561000	0.74099	CGC		0.493	KIAA1324-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032389.2	NM_020775		5	123	0	0	0	1	0	5	123					T	109727693	C	T	109727693	3	4	435	1	0	0	0	0	1	0	0	0	8223	768	27	1	1009	1	KIAA1324	1	109727693	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	11552	109727693	139522928	462	21387											
SARS	6301	broad.mit.edu	37	chr1	109780463	109780463	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaaagcagcagcaagagacGtcaccctagaaaacaggctg	17	3	11	10	1	1	3	1	0	0	3	1	4	1	3	1	1	4	4	1	1	5	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:109780463G>A	ENST00000234677.2	+	11	1573	c.1498G>A	c.(1498-1500)Gtc>Atc	p.V500I	SARS_ENST00000468588.1_3'UTR|SARS_ENST00000369923.4_Missense_Mutation_p.V522I	NM_006513.3	NP_006504.2	P49591	SYSC_HUMAN	seryl-tRNA synthetase	500					gene expression (GO:0010467)|selenocysteinyl-tRNA(Sec) biosynthetic process (GO:0097056)|seryl-tRNA aminoacylation (GO:0006434)|translation (GO:0006412)|tRNA aminoacylation for protein translation (GO:0006418)|tRNA processing (GO:0008033)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|RNA binding (GO:0003723)|serine-tRNA ligase activity (GO:0004828)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	17		all_epithelial(167;7.64e-05)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0301)|Lung(183;0.0677)|COAD - Colon adenocarcinoma(174;0.116)|Epithelial(280;0.233)	L-Serine(DB00133)	AGCAAGAGACGTCACCCTAGA	0.502																																						ENST00000369923.4																			0				central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	17						c.(1564-1566)Gtc>Atc		seryl-tRNA synthetase	L-Serine(DB00133)						185	153	164					1																	109780463		2203	4300	6503	SO:0001583	missense	6301				seryl-tRNA aminoacylation|tRNA processing	cytosol	ATP binding|protein binding|RNA binding|serine-tRNA ligase activity	g.chr1:109780463G>A	BC009390	CCDS795.1	1p13.3	2011-07-01			ENSG00000031698	ENSG00000031698	6.1.1.11	"Aminoacyl tRNA synthetases / Class II"	10537	protein-coding gene	gene with protein product	"serine tRNA ligase 1, cytoplasmic"	607529				9431993	Standard	NM_006513		Approved	SERS	uc001dwu.2	P49591	OTTHUMG00000011726	ENST00000234677.2:c.1498G>A	1.37:g.109780463G>A	ENSP00000234677:p.Val500Ile					SARS_ENST00000468588.1_3'UTR|SARS_ENST00000234677.2_Missense_Mutation_p.V500I	p.V522I			P49591	SYSC_HUMAN		Colorectal(144;0.0301)|Lung(183;0.0677)|COAD - Colon adenocarcinoma(174;0.116)|Epithelial(280;0.233)	12	1575	+		all_epithelial(167;7.64e-05)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)	500					B2R6Y9|Q5T5C8|Q9NSE3	Missense_Mutation	SNP	ENST00000234677.2	37	c.1564G>A	CCDS795.1	.	.	.	.	.	.	.	.	.	.	N	4.838	0.155873	0.09236	.	.	ENSG00000031698	ENST00000234677;ENST00000369923	T;T	0.76709	-1.04;-1.04	6.04	3.19	0.36642	.	1.048920	0.07390	N	0.889023	T	0.34250	0.0891	N	0.08118	0	0.09310	N	1	B;B;B;B	0.25048	0.117;0.024;0.059;0.117	B;B;B;B	0.15052	0.012;0.007;0.01;0.007	T	0.25117	-1.0141	10	0.37606	T	0.19	-8.8499	4.0712	0.09882	0.2297:0.0:0.5194:0.2509	.	497;500;522;500	Q0VGA5;Q53HA4;Q5T5C7;P49591	.;.;.;SYSC_HUMAN	I	500;522	ENSP00000234677:V500I;ENSP00000358939:V522I	ENSP00000234677:V500I	V	+	1	0	SARS	109581986	0.001000	0.12720	0.001000	0.08648	0.012000	0.07955	0.808000	0.27154	0.912000	0.36772	-0.192000	0.12808	GTC		0.502	SARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032394.2	NM_006513		14	12	0	0	0	1	0	14	12					A	109780463	G	A	109780463	3	1	435	1	0	0	0	0	1	0	0	0	13844	1145	40	1	1540	1	SARS	1	109780463	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	52770	109780463	139470158	463	21388											
CELSR2	1952	broad.mit.edu	37	chr1	109793291	109793291	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gccggagaaccagccagcagGcacccctgttgcatccctga	9	5	11	16	1	0	2	0	1	0	1	1	3	1	2	6	2	4	4	6	2	1	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:109793291G>A	ENST00000271332.3	+	1	651	c.590G>A	c.(589-591)gGc>gAc	p.G197D		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	197	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cerebrospinal fluid secretion (GO:0033326)|cilium assembly (GO:0042384)|cilium movement (GO:0003341)|dendrite morphogenesis (GO:0048813)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neural plate anterior/posterior regionalization (GO:0021999)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of cell-cell adhesion (GO:0022407)|regulation of protein localization (GO:0032880)|regulation of transcription, DNA-templated (GO:0006355)|ventricular system development (GO:0021591)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		CAGCCAGCAGGCACCCCTGTT	0.622																																					NSCLC(158;1285 2011 34800 34852 42084)	ENST00000271332.3																			0				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82						c.(589-591)gGc>gAc		cadherin, EGF LAG seven-pass G-type receptor 2							86	82	83					1																	109793291		2203	4300	6503	SO:0001583	missense	1952				dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding	g.chr1:109793291G>A	D87469	CCDS796.1	1p13.3	2014-08-08	2013-02-18		ENSG00000143126	ENSG00000143126		"Cadherins / Major cadherins", "-", "GPCR / Class B : Orphans"	3231	protein-coding gene	gene with protein product		604265	"cadherin, EGF LAG seven-pass G-type receptor 2, flamingo (Drosophila) homolog"	EGFL2		9693030, 10907856	Standard	NM_001408		Approved	KIAA0279, MEGF3, Flamingo1, CDHF10	uc001dxa.4	Q9HCU4	OTTHUMG00000012003	ENST00000271332.3:c.590G>A	1.37:g.109793291G>A	ENSP00000271332:p.Gly197Asp						p.G197D	NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)	1	651	+		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)	197			Cadherin 1.		Q5T2Y7|Q92566	Missense_Mutation	SNP	ENST00000271332.3	37	c.590G>A	CCDS796.1	.	.	.	.	.	.	.	.	.	.	N	15.07	2.724741	0.48833	.	.	ENSG00000143126	ENST00000271332	T	0.75050	-0.9	4.99	3.13	0.36017	Cadherin (3);Cadherin-like (1);	.	.	.	.	D	0.82356	0.5019	M	0.86268	2.805	0.53688	D	0.999978	D	0.89917	1.0	D	0.91635	0.999	D	0.84560	0.0649	9	0.66056	D	0.02	.	11.8216	0.52242	0.1436:0.0:0.8564:0.0	.	197	Q9HCU4	CELR2_HUMAN	D	197	ENSP00000271332:G197D	ENSP00000271332:G197D	G	+	2	0	CELSR2	109594814	1.000000	0.71417	0.222000	0.23844	0.292000	0.27327	6.510000	0.73729	0.695000	0.31675	-0.355000	0.07637	GGC		0.622	CELSR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033200.1	NM_001408		12	24	0	0	0	1	0	12	24					A	109793291	G	A	109793291	3	1	435	1	0	0	0	0	1	0	0	0	3222	1203	42	3	592	3	CELSR2	1	109793291	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	12828	109793291	139457330	464	21389											
CELSR2	1952	broad.mit.edu	37	chr1	109793871	109793871	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gctgttttcctttctgtggaGgatgacaatgataatgcccc	8	14	10	9	0	1	2	0	2	1	0	2	4	2	4	3	2	1	2	3	2	2	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:109793871G>T	ENST00000271332.3	+	1	1231	c.1170G>T	c.(1168-1170)gaG>gaT	p.E390D		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	390	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cerebrospinal fluid secretion (GO:0033326)|cilium assembly (GO:0042384)|cilium movement (GO:0003341)|dendrite morphogenesis (GO:0048813)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neural plate anterior/posterior regionalization (GO:0021999)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of cell-cell adhesion (GO:0022407)|regulation of protein localization (GO:0032880)|regulation of transcription, DNA-templated (GO:0006355)|ventricular system development (GO:0021591)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		TTTCTGTGGAGGATGACAATG	0.582																																					NSCLC(158;1285 2011 34800 34852 42084)	ENST00000271332.3																			0				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82						c.(1168-1170)gaG>gaT		cadherin, EGF LAG seven-pass G-type receptor 2							70	77	75					1																	109793871		2203	4300	6503	SO:0001583	missense	1952				dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding	g.chr1:109793871G>T	D87469	CCDS796.1	1p13.3	2014-08-08	2013-02-18		ENSG00000143126	ENSG00000143126		"Cadherins / Major cadherins", "-", "GPCR / Class B : Orphans"	3231	protein-coding gene	gene with protein product		604265	"cadherin, EGF LAG seven-pass G-type receptor 2, flamingo (Drosophila) homolog"	EGFL2		9693030, 10907856	Standard	NM_001408		Approved	KIAA0279, MEGF3, Flamingo1, CDHF10	uc001dxa.4	Q9HCU4	OTTHUMG00000012003	ENST00000271332.3:c.1170G>T	1.37:g.109793871G>T	ENSP00000271332:p.Glu390Asp						p.E390D	NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)	1	1231	+		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)	390			Cadherin 2.		Q5T2Y7|Q92566	Missense_Mutation	SNP	ENST00000271332.3	37	c.1170G>T	CCDS796.1	.	.	.	.	.	.	.	.	.	.	N	13.91	2.378741	0.42207	.	.	ENSG00000143126	ENST00000271332	T	0.01745	4.66	4.99	0.834	0.18880	Cadherin (3);Cadherin conserved site (1);Cadherin-like (1);	.	.	.	.	T	0.01695	0.0054	L	0.49778	1.585	0.40728	D	0.982729	D	0.60160	0.987	D	0.67382	0.951	T	0.61778	-0.6993	9	0.16420	T	0.52	.	6.3044	0.21131	0.3003:0.1211:0.5786:0.0	.	390	Q9HCU4	CELR2_HUMAN	D	390	ENSP00000271332:E390D	ENSP00000271332:E390D	E	+	3	2	CELSR2	109595394	1.000000	0.71417	0.997000	0.53966	0.997000	0.91878	0.709000	0.25734	0.007000	0.14760	0.555000	0.69702	GAG		0.582	CELSR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033200.1	NM_001408		25	29	1	0	8.58068e-18	1	9.45481e-18	25	29					T	109793871	G	T	109793871	3	4	435	1	0	0	0	0	1	0	0	0	3222	991	35	5	1172	5	CELSR2	1	109793871	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	580	109793871	139456750	465	21390											
CELSR2	1952	broad.mit.edu	37	chr1	109794459	109794459	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtagaagctcgagaccatggCactccagcactcactgcctc	10	7	9	15	1	1	2	1	0	0	2	4	3	2	2	3	1	3	4	3	1	2	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:109794459C>G	ENST00000271332.3	+	1	1819	c.1758C>G	c.(1756-1758)ggC>ggG	p.G586G		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	586	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cerebrospinal fluid secretion (GO:0033326)|cilium assembly (GO:0042384)|cilium movement (GO:0003341)|dendrite morphogenesis (GO:0048813)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neural plate anterior/posterior regionalization (GO:0021999)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of cell-cell adhesion (GO:0022407)|regulation of protein localization (GO:0032880)|regulation of transcription, DNA-templated (GO:0006355)|ventricular system development (GO:0021591)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		GAGACCATGGCACTCCAGCAC	0.542																																					NSCLC(158;1285 2011 34800 34852 42084)	ENST00000271332.3																			0				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82						c.(1756-1758)ggC>ggG		cadherin, EGF LAG seven-pass G-type receptor 2							114	101	105					1																	109794459		2203	4300	6503	SO:0001819	synonymous_variant	1952				dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding	g.chr1:109794459C>G	D87469	CCDS796.1	1p13.3	2014-08-08	2013-02-18		ENSG00000143126	ENSG00000143126		"Cadherins / Major cadherins", "-", "GPCR / Class B : Orphans"	3231	protein-coding gene	gene with protein product		604265	"cadherin, EGF LAG seven-pass G-type receptor 2, flamingo (Drosophila) homolog"	EGFL2		9693030, 10907856	Standard	NM_001408		Approved	KIAA0279, MEGF3, Flamingo1, CDHF10	uc001dxa.4	Q9HCU4	OTTHUMG00000012003	ENST00000271332.3:c.1758C>G	1.37:g.109794459C>G							p.G586G	NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)	1	1819	+		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)	586			Cadherin 4.		Q5T2Y7|Q92566	Silent	SNP	ENST00000271332.3	37	c.1758C>G	CCDS796.1																																																																																				0.542	CELSR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033200.1	NM_001408		12	20	0	0	0	1	0	12	20					G	109794459	C	G	109794459	2	3	435	1	0	0	0	0	0	0	0	1	3222	697	25	5		5	CELSR2	1	109794459	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	588	109794459	139456162	466	21391											
CELSR2	1952	broad.mit.edu	37	chr1	109795355	109795355	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gctggatcgagagaacgtggCccagtatgtcttgcgggcat	8	9	15	9	3	1	1	0	0	1	1	2	4	1	2	1	3	2	3	1	3	2	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:109795355C>T	ENST00000271332.3	+	1	2715	c.2654C>T	c.(2653-2655)gCc>gTc	p.A885V		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	885	Cadherin 7. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cerebrospinal fluid secretion (GO:0033326)|cilium assembly (GO:0042384)|cilium movement (GO:0003341)|dendrite morphogenesis (GO:0048813)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neural plate anterior/posterior regionalization (GO:0021999)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of cell-cell adhesion (GO:0022407)|regulation of protein localization (GO:0032880)|regulation of transcription, DNA-templated (GO:0006355)|ventricular system development (GO:0021591)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		GAGAACGTGGCCCAGTATGTC	0.557																																					NSCLC(158;1285 2011 34800 34852 42084)	ENST00000271332.3																			0				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82						c.(2653-2655)gCc>gTc		cadherin, EGF LAG seven-pass G-type receptor 2							91	82	85					1																	109795355		2203	4300	6503	SO:0001583	missense	1952				dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding	g.chr1:109795355C>T	D87469	CCDS796.1	1p13.3	2014-08-08	2013-02-18		ENSG00000143126	ENSG00000143126		"Cadherins / Major cadherins", "-", "GPCR / Class B : Orphans"	3231	protein-coding gene	gene with protein product		604265	"cadherin, EGF LAG seven-pass G-type receptor 2, flamingo (Drosophila) homolog"	EGFL2		9693030, 10907856	Standard	NM_001408		Approved	KIAA0279, MEGF3, Flamingo1, CDHF10	uc001dxa.4	Q9HCU4	OTTHUMG00000012003	ENST00000271332.3:c.2654C>T	1.37:g.109795355C>T	ENSP00000271332:p.Ala885Val						p.A885V	NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)	1	2715	+		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)	885			Cadherin 7.		Q5T2Y7|Q92566	Missense_Mutation	SNP	ENST00000271332.3	37	c.2654C>T	CCDS796.1	.	.	.	.	.	.	.	.	.	.	N	16.29	3.082902	0.55861	.	.	ENSG00000143126	ENST00000271332	T	0.61859	0.07	4.39	4.39	0.52855	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.53334	0.1790	M	0.74546	2.27	0.44579	D	0.997548	B	0.27700	0.186	B	0.34824	0.19	T	0.60944	-0.7162	9	0.54805	T	0.06	.	17.5783	0.87957	0.0:1.0:0.0:0.0	.	885	Q9HCU4	CELR2_HUMAN	V	885	ENSP00000271332:A885V	ENSP00000271332:A885V	A	+	2	0	CELSR2	109596878	1.000000	0.71417	1.000000	0.80357	0.871000	0.50021	5.723000	0.68492	2.474000	0.83562	0.456000	0.33151	GCC		0.557	CELSR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033200.1	NM_001408		14	28	0	0	0	1	0	14	28					T	109795355	C	T	109795355	3	4	435	1	0	0	0	0	1	0	0	0	3222	739	26	3	2656	3	CELSR2	1	109795355	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	896	109795355	139455266	467	21392											
CELSR2	1952	broad.mit.edu	37	chr1	109804178	109804178	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggttgctgttgtacaatgggCgtttcaatgagaagcatgac	10	12	13	6	1	1	2	1	2	0	1	1	3	1	2	0	2	3	6	0	2	4	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:109804178C>T	ENST00000271332.3	+	4	4286	c.4225C>T	c.(4225-4227)Cgt>Tgt	p.R1409C		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	1409	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cerebrospinal fluid secretion (GO:0033326)|cilium assembly (GO:0042384)|cilium movement (GO:0003341)|dendrite morphogenesis (GO:0048813)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neural plate anterior/posterior regionalization (GO:0021999)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of cell-cell adhesion (GO:0022407)|regulation of protein localization (GO:0032880)|regulation of transcription, DNA-templated (GO:0006355)|ventricular system development (GO:0021591)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		GTACAATGGGCGTTTCAATGA	0.582																																					NSCLC(158;1285 2011 34800 34852 42084)	ENST00000271332.3																			0				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82						c.(4225-4227)Cgt>Tgt		cadherin, EGF LAG seven-pass G-type receptor 2							154	148	150					1																	109804178		2203	4300	6503	SO:0001583	missense	1952				dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding	g.chr1:109804178C>T	D87469	CCDS796.1	1p13.3	2014-08-08	2013-02-18		ENSG00000143126	ENSG00000143126		"Cadherins / Major cadherins", "-", "GPCR / Class B : Orphans"	3231	protein-coding gene	gene with protein product		604265	"cadherin, EGF LAG seven-pass G-type receptor 2, flamingo (Drosophila) homolog"	EGFL2		9693030, 10907856	Standard	NM_001408		Approved	KIAA0279, MEGF3, Flamingo1, CDHF10	uc001dxa.4	Q9HCU4	OTTHUMG00000012003	ENST00000271332.3:c.4225C>T	1.37:g.109804178C>T	ENSP00000271332:p.Arg1409Cys						p.R1409C	NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)	4	4286	+		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)	1409			Laminin G-like 1.		Q5T2Y7|Q92566	Missense_Mutation	SNP	ENST00000271332.3	37	c.4225C>T	CCDS796.1	.	.	.	.	.	.	.	.	.	.	C	23.7	4.447789	0.84101	.	.	ENSG00000143126	ENST00000271332	T	0.79653	-1.29	5.01	5.01	0.66863	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	.	.	.	.	D	0.90027	0.6886	M	0.91090	3.175	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.91477	0.5201	9	0.72032	D	0.01	.	13.4779	0.61318	0.1562:0.8438:0.0:0.0	.	1409	Q9HCU4	CELR2_HUMAN	C	1409	ENSP00000271332:R1409C	ENSP00000271332:R1409C	R	+	1	0	CELSR2	109605701	1.000000	0.71417	1.000000	0.80357	0.846000	0.48090	5.441000	0.66569	2.598000	0.87819	0.462000	0.41574	CGT		0.582	CELSR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033200.1	NM_001408		27	43	0	0	0	1	0	27	43					T	109804178	C	T	109804178	3	4	435	1	0	0	0	0	1	0	0	0	3222	768	27	1	4239	1	CELSR2	1	109804178	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	8823	109804178	139446443	468	21393											
CELSR2	1952	broad.mit.edu	37	chr1	109805882	109805882	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggctttgggggcaagagctgCgcccagggtaggaggggcgg	6	5	22	8	2	0	1	0	0	0	1	0	2	0	2	1	8	2	4	1	8	2	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:109805882C>T	ENST00000271332.3	+	8	4888	c.4827C>T	c.(4825-4827)tgC>tgT	p.C1609C		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	1609	EGF-like 4; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				cerebrospinal fluid secretion (GO:0033326)|cilium assembly (GO:0042384)|cilium movement (GO:0003341)|dendrite morphogenesis (GO:0048813)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neural plate anterior/posterior regionalization (GO:0021999)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of cell-cell adhesion (GO:0022407)|regulation of protein localization (GO:0032880)|regulation of transcription, DNA-templated (GO:0006355)|ventricular system development (GO:0021591)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		GCAAGAGCTGCGCCCAGGGTA	0.647																																					NSCLC(158;1285 2011 34800 34852 42084)	ENST00000271332.3																			0				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82						c.(4825-4827)tgC>tgT		cadherin, EGF LAG seven-pass G-type receptor 2							26	26	26					1																	109805882		2203	4300	6503	SO:0001819	synonymous_variant	1952				dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding	g.chr1:109805882C>T	D87469	CCDS796.1	1p13.3	2014-08-08	2013-02-18		ENSG00000143126	ENSG00000143126		"Cadherins / Major cadherins", "-", "GPCR / Class B : Orphans"	3231	protein-coding gene	gene with protein product		604265	"cadherin, EGF LAG seven-pass G-type receptor 2, flamingo (Drosophila) homolog"	EGFL2		9693030, 10907856	Standard	NM_001408		Approved	KIAA0279, MEGF3, Flamingo1, CDHF10	uc001dxa.4	Q9HCU4	OTTHUMG00000012003	ENST00000271332.3:c.4827C>T	1.37:g.109805882C>T							p.C1609C	NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)	8	4888	+		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)	1609			EGF-like 4; calcium-binding.		Q5T2Y7|Q92566	Silent	SNP	ENST00000271332.3	37	c.4827C>T	CCDS796.1																																																																																				0.647	CELSR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033200.1	NM_001408		16	14	0	0	0	1	0	16	14					T	109805882	C	T	109805882	2	4	435	1	0	0	0	0	0	0	0	1	3222	776	27	1		1	CELSR2	1	109805882	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	1704	109805882	139444739	469	21394											
CELSR2	1952	broad.mit.edu	37	chr1	109814061	109814061	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgctgagcgccacgtggcTgctggcactgctctctgtca	4	10	13	14	2	2	1	1	1	1	0	3	1	2	1	1	2	4	6	1	2	0	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:109814061T>C	ENST00000271332.3	+	27	7791	c.7730T>C	c.(7729-7731)cTg>cCg	p.L2577P	CELSR2_ENST00000498157.1_3'UTR	NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	2577					cerebrospinal fluid secretion (GO:0033326)|cilium assembly (GO:0042384)|cilium movement (GO:0003341)|dendrite morphogenesis (GO:0048813)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neural plate anterior/posterior regionalization (GO:0021999)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of cell-cell adhesion (GO:0022407)|regulation of protein localization (GO:0032880)|regulation of transcription, DNA-templated (GO:0006355)|ventricular system development (GO:0021591)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		GCCACGTGGCTGCTGGCACTG	0.632																																					NSCLC(158;1285 2011 34800 34852 42084)	ENST00000271332.3																			0				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82						c.(7729-7731)cTg>cCg		cadherin, EGF LAG seven-pass G-type receptor 2							111	89	97					1																	109814061		2203	4300	6503	SO:0001583	missense	1952				dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding	g.chr1:109814061T>C	D87469	CCDS796.1	1p13.3	2014-08-08	2013-02-18		ENSG00000143126	ENSG00000143126		"Cadherins / Major cadherins", "-", "GPCR / Class B : Orphans"	3231	protein-coding gene	gene with protein product		604265	"cadherin, EGF LAG seven-pass G-type receptor 2, flamingo (Drosophila) homolog"	EGFL2		9693030, 10907856	Standard	NM_001408		Approved	KIAA0279, MEGF3, Flamingo1, CDHF10	uc001dxa.4	Q9HCU4	OTTHUMG00000012003	ENST00000271332.3:c.7730T>C	1.37:g.109814061T>C	ENSP00000271332:p.Leu2577Pro					CELSR2_ENST00000498157.1_3'UTR	p.L2577P	NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)	27	7791	+		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)	2577					Q5T2Y7|Q92566	Missense_Mutation	SNP	ENST00000271332.3	37	c.7730T>C	CCDS796.1	.	.	.	.	.	.	.	.	.	.	T	21.8	4.198138	0.79015	.	.	ENSG00000143126	ENST00000271332	T	0.49139	0.79	4.59	4.59	0.56863	GPCR, family 2-like (1);	.	.	.	.	T	0.67496	0.2899	M	0.90309	3.105	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	T	0.75980	-0.3126	9	0.72032	D	0.01	.	13.7972	0.63177	0.0:0.0:0.0:1.0	.	2577	Q9HCU4	CELR2_HUMAN	P	2577	ENSP00000271332:L2577P	ENSP00000271332:L2577P	L	+	2	0	CELSR2	109615584	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	4.945000	0.63568	1.926000	0.55796	0.459000	0.35465	CTG		0.632	CELSR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033200.1	NM_001408		6	77	0	0	0	1	0	6	77					C	109814061	T	C	109814061	3	2	435	1	0	0	0	0	1	0	0	0	3222	1580	55	4	7836	4	CELSR2	1	109814061	Missense_Mutation	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	8179	109814061	139436560	470	21395											
ATXN7L2	127002	broad.mit.edu	37	chr1	110031508	110031508	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gccgggaagtccagggccggGccaaggactttgacgtgctg	7	6	17	11	3	0	1	0	1	0	0	1	3	1	3	4	4	1	1	4	4	2	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:110031508G>A	ENST00000369870.3	+	7	838	c.823G>A	c.(823-825)Gcc>Acc	p.A275T		NM_153340.4	NP_699171.3	Q5T6C5	AT7L2_HUMAN	ataxin 7-like 2	275	SCA7. {ECO:0000255|PROSITE- ProRule:PRU00838}.									breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)	17		all_epithelial(167;0.00197)|all_lung(203;0.00291)|Lung NSC(277;0.00453)		Colorectal(144;0.0129)|Lung(183;0.0426)|Epithelial(280;0.0675)|READ - Rectum adenocarcinoma(129;0.0693)|all cancers(265;0.071)|LUSC - Lung squamous cell carcinoma(189;0.228)		CCAGGGCCGGGCCAAGGACTT	0.597																																						ENST00000369870.3																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)	17						c.(823-825)Gcc>Acc		ataxin 7-like 2							45	50	49					1																	110031508		2203	4300	6503	SO:0001583	missense	127002							g.chr1:110031508G>A	BC037582	CCDS30794.1	1p13.2	2008-02-05			ENSG00000162650	ENSG00000162650			28713	protein-coding gene	gene with protein product						12477932	Standard	NM_153340		Approved	MGC46534, FLJ00381	uc001dxr.3	Q5T6C5	OTTHUMG00000011027	ENST00000369870.3:c.823G>A	1.37:g.110031508G>A	ENSP00000358886:p.Ala275Thr						p.A275T	NM_153340.4	NP_699171.3	Q5T6C5	AT7L2_HUMAN		Colorectal(144;0.0129)|Lung(183;0.0426)|Epithelial(280;0.0675)|READ - Rectum adenocarcinoma(129;0.0693)|all cancers(265;0.071)|LUSC - Lung squamous cell carcinoma(189;0.228)	7	838	+		all_epithelial(167;0.00197)|all_lung(203;0.00291)|Lung NSC(277;0.00453)	275			SCA7.			Missense_Mutation	SNP	ENST00000369870.3	37	c.823G>A	CCDS30794.1	.	.	.	.	.	.	.	.	.	.	G	12.15	1.850369	0.32699	.	.	ENSG00000162650	ENST00000369870;ENST00000541125	T	0.29397	1.57	5.72	4.79	0.61399	SCA7 domain (2);	0.099589	0.44688	D	0.000440	T	0.03739	0.0106	N	0.00926	-1.1	0.80722	D	1	B	0.16603	0.018	B	0.15870	0.014	T	0.29336	-1.0015	10	0.13470	T	0.59	-9.0466	13.1881	0.59693	0.0:0.0:0.84:0.16	.	275	Q5T6C5	AT7L2_HUMAN	T	275	ENSP00000358886:A275T	ENSP00000358886:A275T	A	+	1	0	ATXN7L2	109833031	1.000000	0.71417	0.997000	0.53966	0.994000	0.84299	3.471000	0.53107	1.375000	0.46248	0.561000	0.74099	GCC		0.597	ATXN7L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030331.1	NM_153340		6	42	0	0	0	1	0	6	42					A	110031508	G	A	110031508	3	1	435	1	0	0	0	0	1	0	0	0	1217	1203	42	3	849	3	ATXN7L2	1	110031508	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	217447	110031508	139219113	471	21396											
AMIGO1	57463	broad.mit.edu	37	chr1	110050781	110050781	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cttcttggagttcatgcagtAcagatcctcttgaaagtcca	10	13	8	10	0	3	2	1	1	2	1	5	3	5	3	2	1	2	3	2	1	2	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:110050781A>G	ENST00000369864.4	-	2	1103	c.754T>C	c.(754-756)Tac>Cac	p.Y252H	AMIGO1_ENST00000369862.1_Missense_Mutation_p.Y252H					adhesion molecule with Ig-like domain 1											autonomic_ganglia(1)|breast(2)|endometrium(1)|large_intestine(6)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Colorectal(144;0.0129)|Lung(183;0.0182)|Epithelial(280;0.046)|all cancers(265;0.0492)|READ - Rectum adenocarcinoma(129;0.0689)|LUSC - Lung squamous cell carcinoma(189;0.227)		TTCATGCAGTACAGATCCTCT	0.532																																						ENST00000369864.4																			0				autonomic_ganglia(1)|breast(2)|endometrium(1)|large_intestine(6)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						c.(754-756)Tac>Cac		adhesion molecule with Ig-like domain 1							88	89	89					1																	110050781		2203	4300	6503	SO:0001583	missense	57463				axonal fasciculation|heterophilic cell-cell adhesion|homophilic cell adhesion|myelination|positive regulation of axonogenesis	axon|integral to membrane		g.chr1:110050781A>G		CCDS30795.1	1p13.3	2013-01-11			ENSG00000181754	ENSG00000181754		"Immunoglobulin superfamily / V-set domain containing"	20824	protein-coding gene	gene with protein product	"amphoterin-induced gene and open reading frame"	615689				12629050	Standard	NM_020703		Approved	AMIGO, KIAA1163	uc001dxx.4	Q86WK6	OTTHUMG00000011653	ENST00000369864.4:c.754T>C	1.37:g.110050781A>G	ENSP00000358880:p.Tyr252His					AMIGO1_ENST00000369862.1_Missense_Mutation_p.Y252H	p.Y252H			Q86WK6	AMGO1_HUMAN		Colorectal(144;0.0129)|Lung(183;0.0182)|Epithelial(280;0.046)|all cancers(265;0.0492)|READ - Rectum adenocarcinoma(129;0.0689)|LUSC - Lung squamous cell carcinoma(189;0.227)	2	1103	-		all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)	252			LRRCT.			Missense_Mutation	SNP	ENST00000369864.4	37	c.754T>C	CCDS30795.1	.	.	.	.	.	.	.	.	.	.	A	5.564	0.288999	0.10513	.	.	ENSG00000181754	ENST00000369864;ENST00000369862	T;T	0.02421	4.3;4.3	5.75	4.63	0.57726	Cysteine-rich flanking region, C-terminal (1);	0.215406	0.32190	N	0.006455	T	0.00967	0.0032	L	0.36672	1.1	0.32502	N	0.5388	B	0.02656	0.0	B	0.04013	0.001	T	0.48647	-0.9017	10	0.27082	T	0.32	-13.2316	8.5221	0.33282	0.9123:0.0:0.0877:0.0	.	252	Q86WK6	AMGO1_HUMAN	H	252	ENSP00000358880:Y252H;ENSP00000358878:Y252H	ENSP00000358878:Y252H	Y	-	1	0	AMIGO1	109852304	0.086000	0.21541	1.000000	0.80357	0.961000	0.63080	0.728000	0.26013	1.004000	0.39156	0.528000	0.53228	TAC		0.532	AMIGO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032247.1	NM_020703		4	91	0	0	0	1	0	4	91					G	110050781	A	G	110050781	3	3	435	1	0	0	0	0	1	0	0	0	575	391	14	4	731	4	AMIGO1	1	110050781	Missense_Mutation	SNP	A	TCGA-XK-AAIW-01A-11D-A41K-08	19273	110050781	139199840	472	21397											
AMPD2	271	broad.mit.edu	37	chr1	110169887	110169887	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggacctgggcttgggtctgcGcatggtgcggggtgtggtgc	2	10	21	8	2	1	0	0	0	1	0	1	1	1	1	1	7	3	2	1	7	0	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:110169887G>A	ENST00000256578.3	+	7	1331	c.971G>A	c.(970-972)cGc>cAc	p.R324H	AMPD2_ENST00000528454.1_Missense_Mutation_p.R206H|AMPD2_ENST00000342115.4_Missense_Mutation_p.R243H|AMPD2_ENST00000526301.1_3'UTR|AMPD2_ENST00000528667.1_Missense_Mutation_p.R324H|RP5-1160K1.6_ENST00000369843.3_RNA|AMPD2_ENST00000393688.3_Missense_Mutation_p.R205H|AMPD2_ENST00000358729.4_Missense_Mutation_p.R249H	NM_004037.7	NP_004028.3	Q01433	AMPD2_HUMAN	adenosine monophosphate deaminase 2	324					cell death (GO:0008219)|cyclic purine nucleotide metabolic process (GO:0052652)|energy homeostasis (GO:0097009)|IMP biosynthetic process (GO:0006188)|IMP salvage (GO:0032264)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine-containing compound salvage (GO:0043101)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	AMP deaminase activity (GO:0003876)|metal ion binding (GO:0046872)	p.R324H(1)		breast(1)|large_intestine(3)|ovary(2)|skin(1)	7		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		Lung(183;0.0425)|all cancers(265;0.0884)|Colorectal(144;0.109)|Epithelial(280;0.111)|LUSC - Lung squamous cell carcinoma(189;0.228)		TTGGGTCTGCGCATGGTGCGG	0.667																																						ENST00000256578.3																			1	Substitution - Missense(1)	p.R324H(1)	endometrium(1)	breast(1)|large_intestine(3)|ovary(2)|skin(1)	7						c.(970-972)cGc>cAc		adenosine monophosphate deaminase 2							101	108	106					1																	110169887		2203	4300	6503	SO:0001583	missense	271				purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding	g.chr1:110169887G>A	S47833	CCDS804.1, CCDS805.1, CCDS30796.1, CCDS58016.1	1p13.3	2014-03-03	2010-02-10		ENSG00000116337	ENSG00000116337	3.5.4.6		469	protein-coding gene	gene with protein product	"AMPD isoform L"	102771	"adenosine monophosphate deaminase 2 (isoform L)"			1400401, 24482476	Standard	NM_004037		Approved	SPG63	uc009wfh.2	Q01433	OTTHUMG00000011649	ENST00000256578.3:c.971G>A	1.37:g.110169887G>A	ENSP00000256578:p.Arg324His					AMPD2_ENST00000358729.4_Missense_Mutation_p.R249H|AMPD2_ENST00000393688.3_Missense_Mutation_p.R205H|AMPD2_ENST00000342115.4_Missense_Mutation_p.R243H|AMPD2_ENST00000528667.1_Missense_Mutation_p.R324H|AMPD2_ENST00000528454.1_Missense_Mutation_p.R206H|AMPD2_ENST00000526301.1_3'UTR	p.R324H	NM_004037.7	NP_004028.3	Q01433	AMPD2_HUMAN		Lung(183;0.0425)|all cancers(265;0.0884)|Colorectal(144;0.109)|Epithelial(280;0.111)|LUSC - Lung squamous cell carcinoma(189;0.228)	7	1331	+		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)	324					B4DK50|B4DZI5|E9PNG0|Q14856|Q14857|Q16686|Q16687|Q16688|Q16729|Q5T693|Q5T695|Q96IA1|Q9UDX8|Q9UDX9|Q9UMU4	Missense_Mutation	SNP	ENST00000256578.3	37	c.971G>A	CCDS805.1	.	.	.	.	.	.	.	.	.	.	G	15.19	2.759775	0.49468	.	.	ENSG00000116337	ENST00000342115;ENST00000528667;ENST00000256578;ENST00000358729;ENST00000528454;ENST00000393688	D;D;D;D;D;D	0.82893	-1.66;-1.66;-1.66;-1.66;-1.66;-1.66	4.71	3.8	0.43715	.	0.142359	0.45867	N	0.000325	T	0.62245	0.2412	L	0.31476	0.935	0.29930	N	0.822009	P;P;P;P	0.49358	0.923;0.897;0.886;0.897	B;P;B;B	0.45946	0.385;0.498;0.321;0.397	T	0.61019	-0.7147	10	0.51188	T	0.08	-23.0323	6.1639	0.20380	0.2854:0.0:0.7146:0.0	.	249;205;324;243	Q01433-4;Q01433-3;Q01433;Q01433-2	.;.;AMPD2_HUMAN;.	H	243;324;324;249;206;205	ENSP00000345498:R243H;ENSP00000436541:R324H;ENSP00000256578:R324H;ENSP00000351573:R249H;ENSP00000437164:R206H;ENSP00000377292:R205H	ENSP00000256578:R324H	R	+	2	0	AMPD2	109971410	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.099000	0.57755	1.202000	0.43218	0.462000	0.41574	CGC		0.667	AMPD2-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390615.1			20	46	0	0	0	1	0	20	46					A	110169887	G	A	110169887	3	1	435	1	0	0	0	0	1	0	0	0	586	1087	38	1	1038	1	AMPD2	1	110169887	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	119106	110169887	139080734	473	21398											
AMPD2	271	broad.mit.edu	37	chr1	110170723	110170723	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggtggacacccacatccatGcctcgtcctgcatgaaccag	10	7	9	15	1	0	1	0	1	0	0	3	2	2	2	5	2	3	1	5	2	1	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:110170723G>A	ENST00000256578.3	+	10	1621	c.1261G>A	c.(1261-1263)Gcc>Acc	p.A421T	AMPD2_ENST00000528454.1_Missense_Mutation_p.A303T|AMPD2_ENST00000342115.4_Missense_Mutation_p.A340T|AMPD2_ENST00000526301.1_3'UTR|AMPD2_ENST00000528667.1_Missense_Mutation_p.A421T|RP5-1160K1.6_ENST00000369843.3_RNA|AMPD2_ENST00000393688.3_Missense_Mutation_p.A302T|AMPD2_ENST00000358729.4_Missense_Mutation_p.A346T	NM_004037.7	NP_004028.3	Q01433	AMPD2_HUMAN	adenosine monophosphate deaminase 2	421					cell death (GO:0008219)|cyclic purine nucleotide metabolic process (GO:0052652)|energy homeostasis (GO:0097009)|IMP biosynthetic process (GO:0006188)|IMP salvage (GO:0032264)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine-containing compound salvage (GO:0043101)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	AMP deaminase activity (GO:0003876)|metal ion binding (GO:0046872)			breast(1)|large_intestine(3)|ovary(2)|skin(1)	7		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		Lung(183;0.0425)|all cancers(265;0.0884)|Colorectal(144;0.109)|Epithelial(280;0.111)|LUSC - Lung squamous cell carcinoma(189;0.228)		CCACATCCATGCCTCGTCCTG	0.607																																						ENST00000256578.3																			0				breast(1)|large_intestine(3)|ovary(2)|skin(1)	7						c.(1261-1263)Gcc>Acc		adenosine monophosphate deaminase 2							68	63	65					1																	110170723		2203	4300	6503	SO:0001583	missense	271				purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding	g.chr1:110170723G>A	S47833	CCDS804.1, CCDS805.1, CCDS30796.1, CCDS58016.1	1p13.3	2014-03-03	2010-02-10		ENSG00000116337	ENSG00000116337	3.5.4.6		469	protein-coding gene	gene with protein product	"AMPD isoform L"	102771	"adenosine monophosphate deaminase 2 (isoform L)"			1400401, 24482476	Standard	NM_004037		Approved	SPG63	uc009wfh.2	Q01433	OTTHUMG00000011649	ENST00000256578.3:c.1261G>A	1.37:g.110170723G>A	ENSP00000256578:p.Ala421Thr					AMPD2_ENST00000358729.4_Missense_Mutation_p.A346T|AMPD2_ENST00000393688.3_Missense_Mutation_p.A302T|AMPD2_ENST00000342115.4_Missense_Mutation_p.A340T|AMPD2_ENST00000528667.1_Missense_Mutation_p.A421T|AMPD2_ENST00000528454.1_Missense_Mutation_p.A303T|AMPD2_ENST00000526301.1_3'UTR	p.A421T	NM_004037.7	NP_004028.3	Q01433	AMPD2_HUMAN		Lung(183;0.0425)|all cancers(265;0.0884)|Colorectal(144;0.109)|Epithelial(280;0.111)|LUSC - Lung squamous cell carcinoma(189;0.228)	10	1621	+		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)	421					B4DK50|B4DZI5|E9PNG0|Q14856|Q14857|Q16686|Q16687|Q16688|Q16729|Q5T693|Q5T695|Q96IA1|Q9UDX8|Q9UDX9|Q9UMU4	Missense_Mutation	SNP	ENST00000256578.3	37	c.1261G>A	CCDS805.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	33|33	5.236315|5.236315	0.95240|0.95240	.|.	.|.	ENSG00000116337|ENSG00000116337	ENST00000342115;ENST00000528667;ENST00000256578;ENST00000358729;ENST00000528454;ENST00000393688|ENST00000369840	D;D;D;D;D;D|.	0.92911|.	-3.13;-3.13;-3.13;-3.13;-3.13;-3.13|.	5.04|5.04	5.04|5.04	0.67666|0.67666	Adenosine/AMP deaminase (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.71779|0.71779	0.3380|0.3380	M|M	0.77616|0.77616	2.38|2.38	0.80722|0.80722	D|D	1|1	D;D;P;D|.	0.89917|.	0.996;1.0;0.786;1.0|.	D;D;P;D|.	0.80764|.	0.99;0.994;0.823;0.994|.	T|T	0.72104|0.72104	-0.4391|-0.4391	10|5	0.25106|.	T|.	0.35|.	-27.1791|-27.1791	17.3138|17.3138	0.87217|0.87217	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	346;302;421;340|.	Q01433-4;Q01433-3;Q01433;Q01433-2|.	.;.;AMPD2_HUMAN;.|.	T|Y	340;421;421;346;303;302|391	ENSP00000345498:A340T;ENSP00000436541:A421T;ENSP00000256578:A421T;ENSP00000351573:A346T;ENSP00000437164:A303T;ENSP00000377292:A302T|.	ENSP00000256578:A421T|.	A|C	+|+	1|2	0|0	AMPD2|AMPD2	109972246|109972246	1.000000|1.000000	0.71417|0.71417	0.985000|0.985000	0.45067|0.45067	0.985000|0.985000	0.73830|0.73830	9.559000|9.559000	0.98135|0.98135	2.634000|2.634000	0.89283|0.89283	0.561000|0.561000	0.74099|0.74099	GCC|TGC		0.607	AMPD2-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390615.1			7	7	0	0	0	1	0	7	7					A	110170723	G	A	110170723	3	1	435	1	0	0	0	0	1	0	0	0	586	1319	46	3	1340	3	AMPD2	1	110170723	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	836	110170723	139079898	474	21399											
GSTM2	2946	broad.mit.edu	37	chr1	110212156	110212156	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaaccagtttatggacagccGtatgcagctggccaaactct	11	9	10	11	1	1	0	0	0	1	0	1	2	1	1	3	2	5	4	3	2	4	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:110212156G>A	ENST00000241337.4	+	5	373	c.323G>A	c.(322-324)cGt>cAt	p.R108H	GSTM2_ENST00000369831.2_Missense_Mutation_p.R108H|GSTM2_ENST00000369829.2_Missense_Mutation_p.R108H|GSTM2_ENST00000460717.3_Missense_Mutation_p.R108H|GSTM2_ENST00000369827.3_Missense_Mutation_p.R106H|GSTM2_ENST00000442650.1_Missense_Mutation_p.R108H|GSTM2_ENST00000414179.2_Missense_Mutation_p.R4H|GSTM2_ENST00000464206.1_Intron	NM_000848.3	NP_000839.1	P28161	GSTM2_HUMAN	glutathione S-transferase mu 2 (muscle)	108	GST C-terminal.				cellular detoxification of nitrogen compound (GO:0070458)|cellular response to caffeine (GO:0071313)|glutathione derivative biosynthetic process (GO:1901687)|glutathione metabolic process (GO:0006749)|negative regulation of ryanodine-sensitive calcium-release channel activity (GO:0060315)|nitrobenzene metabolic process (GO:0018916)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|relaxation of cardiac muscle (GO:0055119)|small molecule metabolic process (GO:0044281)|xenobiotic catabolic process (GO:0042178)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|sarcoplasmic reticulum (GO:0016529)	enzyme binding (GO:0019899)|glutathione binding (GO:0043295)|glutathione transferase activity (GO:0004364)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)			kidney(1)|large_intestine(2)|lung(4)|prostate(2)|upper_aerodigestive_tract(2)	11		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		all cancers(265;0.0122)|Colorectal(144;0.0129)|Epithelial(280;0.0146)|Lung(183;0.0422)|COAD - Colon adenocarcinoma(174;0.047)|LUSC - Lung squamous cell carcinoma(189;0.227)	Glutathione(DB00143)	ATGGACAGCCGTATGCAGCTG	0.537																																						ENST00000369831.2																			0				kidney(1)|large_intestine(2)|lung(4)|prostate(2)|upper_aerodigestive_tract(2)	11						c.(322-324)cGt>cAt		glutathione S-transferase mu 2 (muscle)							87	87	87					1																	110212156		2203	4300	6503	SO:0001583	missense	2946							g.chr1:110212156G>A	M63509	CCDS808.1, CCDS44192.1	1p13.3	2012-06-21	2008-11-26		ENSG00000213366	ENSG00000213366	2.5.1.18	"Glutathione S-transferases / Soluble"	4634	protein-coding gene	gene with protein product		138380	"glutathione S-transferase M2 (muscle)"			2034681, 2345169	Standard	NM_000848		Approved	GST4		P28161	OTTHUMG00000011638	ENST00000241337.4:c.323G>A	1.37:g.110212156G>A	ENSP00000241337:p.Arg108His					GSTM2_ENST00000241337.4_Missense_Mutation_p.R108H|GSTM2_ENST00000464206.1_Intron|GSTM2_ENST00000442650.1_Missense_Mutation_p.R108H|GSTM2_ENST00000414179.2_Missense_Mutation_p.R4H|GSTM2_ENST00000460717.3_Missense_Mutation_p.R108H|GSTM2_ENST00000369829.2_Missense_Mutation_p.R108H|GSTM2_ENST00000369827.3_Missense_Mutation_p.R106H	p.R108H						all cancers(265;0.0122)|Colorectal(144;0.0129)|Epithelial(280;0.0146)|Lung(183;0.0422)|COAD - Colon adenocarcinoma(174;0.047)|LUSC - Lung squamous cell carcinoma(189;0.227)	5	417	+		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)						B4DRY4|E9PEM9|Q2M318|Q5TZY5|Q8WWE1	Missense_Mutation	SNP	ENST00000241337.4	37	c.323G>A	CCDS808.1	.	.	.	.	.	.	.	.	.	.	g	10.81	1.455410	0.26161	.	.	ENSG00000213366	ENST00000442650;ENST00000369827;ENST00000369831;ENST00000460717;ENST00000467579;ENST00000414179;ENST00000369829;ENST00000241337	T;T;T;T;T;T;T;T	0.03772	3.81;3.81;3.81;3.81;3.81;3.81;3.81;3.81	3.02	-0.291	0.12843	Glutathione S-transferase, C-terminal-like (2);Glutathione S-transferase/chloride channel, C-terminal (1);Glutathione S-transferase, C-terminal (1);	0.085770	0.42420	U	0.000702	T	0.02848	0.0085	M	0.70787	2.145	0.09310	N	1	B;P;P	0.48016	0.179;0.904;0.754	B;P;B	0.46685	0.061;0.524;0.154	T	0.33879	-0.9851	10	0.49607	T	0.09	.	6.0218	0.19632	0.1129:0.3674:0.5198:0.0	.	108;108;108	E9PEM9;P28161;Q0D2I8	.;GSTM2_HUMAN;.	H	108;106;108;108;108;4;108;108	ENSP00000416883:R108H;ENSP00000358842:R106H;ENSP00000358846:R108H;ENSP00000435910:R108H;ENSP00000435157:R108H;ENSP00000404662:R4H;ENSP00000358844:R108H;ENSP00000241337:R108H	ENSP00000241337:R108H	R	+	2	0	GSTM2	110013679	0.001000	0.12720	0.000000	0.03702	0.000000	0.00434	0.797000	0.26999	-0.176000	0.10707	-1.531000	0.00922	CGT		0.537	GSTM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032167.2	NM_000848		6	17	0	0	0	1	0	6	17					A	110212156	G	A	110212156	3	1	435	1	0	0	0	0	1	0	0	0	6838	1145	40	1	341	1	GSTM2	1	110212156	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	41433	110212156	139038465	475	21400											
EPS8L3	79574	broad.mit.edu	37	chr1	110299664	110299664	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agtggtccaggctgggcccaAccccatccaaaggttactct	9	8	10	14	0	1	0	0	0	1	0	3	0	3	0	5	4	2	2	5	4	3	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:110299664A>G	ENST00000361965.4	-	12	1199	c.1093T>C	c.(1093-1095)Ttg>Ctg	p.L365L	EPS8L3_ENST00000494151.1_5'Flank|EPS8L3_ENST00000369805.3_Silent_p.L366L|RP4-735C1.4_ENST00000431955.1_RNA|EPS8L3_ENST00000361852.4_Silent_p.L365L	NM_133181.3	NP_573444.2	Q8TE67	ES8L3_HUMAN	EPS8-like 3	365						cytoplasm (GO:0005737)				breast(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|upper_aerodigestive_tract(1)	32		all_epithelial(167;1.95e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)		Lung(183;0.0245)|Colorectal(144;0.0365)|all cancers(265;0.103)|Epithelial(280;0.109)|LUSC - Lung squamous cell carcinoma(189;0.137)|COAD - Colon adenocarcinoma(174;0.141)		GCTGGGCCCAACCCCATCCAA	0.582																																						ENST00000369805.3																			0				breast(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|upper_aerodigestive_tract(1)	32						c.(1096-1098)Ttg>Ctg		EPS8-like 3							141	140	141					1																	110299664		2203	4300	6503	SO:0001819	synonymous_variant	79574					cytoplasm	protein binding	g.chr1:110299664A>G	AK025175	CCDS813.1, CCDS814.1, CCDS815.1	1p13.2	2008-02-05			ENSG00000198758	ENSG00000198758			21297	protein-coding gene	gene with protein product		614989				12620401	Standard	NM_139053		Approved	FLJ21522, MGC16817	uc001dyq.2	Q8TE67	OTTHUMG00000011651	ENST00000361965.4:c.1093T>C	1.37:g.110299664A>G						EPS8L3_ENST00000361852.4_Silent_p.L365L|EPS8L3_ENST00000361965.4_Silent_p.L365L|RP4-735C1.4_ENST00000431955.1_RNA	p.L366L	NM_133181.3|NM_139053.2	NP_573444.2|NP_620641.1	Q8TE67	ES8L3_HUMAN		Lung(183;0.0245)|Colorectal(144;0.0365)|all cancers(265;0.103)|Epithelial(280;0.109)|LUSC - Lung squamous cell carcinoma(189;0.137)|COAD - Colon adenocarcinoma(174;0.141)	12	1325	-		all_epithelial(167;1.95e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)	365					A8K833|Q5T8Q6|Q5T8Q7|Q5T8Q8|Q96E47|Q9H719	Silent	SNP	ENST00000361965.4	37	c.1096T>C	CCDS814.1																																																																																				0.582	EPS8L3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000032234.1	NM_024526		31	67	0	0	0	1	0	31	67					G	110299664	A	G	110299664	2	3	435	1	0	0	0	0	0	0	0	1	5197	40	2	4		4	EPS8L3	1	110299664	Silent	SNP	A	TCGA-XK-AAIW-01A-11D-A41K-08	87508	110299664	138950957	476	21401											
CSF1	1435	broad.mit.edu	37	chr1	110466717	110466717	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgagggatccttcagcccgCagctccaggagtctgtcttc	6	9	11	15	2	3	0	1	0	2	0	6	3	5	2	4	2	2	2	4	2	0	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:110466717C>T	ENST00000329608.6	+	6	1865	c.1474C>T	c.(1474-1476)Cag>Tag	p.Q492*	CSF1_ENST00000420111.2_Nonsense_Mutation_p.Q194*|CSF1_ENST00000369802.3_Nonsense_Mutation_p.Q492*|CSF1_ENST00000344188.5_Nonsense_Mutation_p.Q376*|CSF1_ENST00000369801.1_Nonsense_Mutation_p.Q376*	NM_000757.5|NM_172211.3	NP_000748|NP_757350.1	P09603	CSF1_HUMAN	colony stimulating factor 1 (macrophage)	492					branching involved in mammary gland duct morphogenesis (GO:0060444)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|developmental process involved in reproduction (GO:0003006)|hemopoiesis (GO:0030097)|homeostasis of number of cells within a tissue (GO:0048873)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|macrophage differentiation (GO:0030225)|mammary duct terminal end bud growth (GO:0060763)|mammary gland fat development (GO:0060611)|monocyte activation (GO:0042117)|odontogenesis (GO:0042476)|ossification (GO:0001503)|osteoclast differentiation (GO:0030316)|osteoclast proliferation (GO:0002158)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of gene expression (GO:0010628)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of monocyte differentiation (GO:0045657)|positive regulation of mononuclear cell proliferation (GO:0032946)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of odontogenesis of dentin-containing tooth (GO:0042488)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of Ras protein signal transduction (GO:0046579)|regulation of macrophage derived foam cell differentiation (GO:0010743)|regulation of ossification (GO:0030278)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	cytokine activity (GO:0005125)|growth factor activity (GO:0008083)|macrophage colony-stimulating factor receptor binding (GO:0005157)|protein homodimerization activity (GO:0042803)			breast(1)|endometrium(3)|large_intestine(3)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	20		all_epithelial(167;3.58e-05)|all_lung(203;0.000116)|Lung NSC(277;0.000233)|Acute lymphoblastic leukemia(138;0.204)		Lung(183;0.0238)|Colorectal(144;0.112)|all cancers(265;0.117)|Epithelial(280;0.127)|LUSC - Lung squamous cell carcinoma(189;0.135)		CTTCAGCCCGCAGCTCCAGGA	0.622																																						ENST00000329608.6																			0				breast(1)|endometrium(3)|large_intestine(3)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	20						c.(1474-1476)Cag>Tag		colony stimulating factor 1 (macrophage)							50	53	52					1																	110466717		2203	4300	6503	SO:0001587	stop_gained	1435				cell proliferation|developmental process involved in reproduction|macrophage differentiation|monocyte activation|osteoclast differentiation|positive regulation of cell migration|positive regulation of cell-matrix adhesion|positive regulation of cellular protein metabolic process|positive regulation of gene expression|positive regulation of macrophage derived foam cell differentiation|positive regulation of macrophage differentiation|positive regulation of monocyte differentiation|positive regulation of mononuclear cell proliferation|positive regulation of protein kinase activity	extracellular space|integral to membrane|perinuclear region of cytoplasm|plasma membrane|receptor complex	cytokine activity|growth factor activity|macrophage colony-stimulating factor receptor binding|protein homodimerization activity	g.chr1:110466717C>T	BC021117	CCDS816.1, CCDS817.1, CCDS30797.1	1p13.3	2012-09-20			ENSG00000184371	ENSG00000184371			2432	protein-coding gene	gene with protein product		120420				1540160	Standard	NM_172210		Approved	M-CSF, MCSF, MGC31930	uc001dyw.4	P09603	OTTHUMG00000011646	ENST00000329608.6:c.1474C>T	1.37:g.110466717C>T	ENSP00000327513:p.Gln492*					CSF1_ENST00000344188.5_Nonsense_Mutation_p.Q376*|CSF1_ENST00000369802.3_Nonsense_Mutation_p.Q492*|CSF1_ENST00000369801.1_Nonsense_Mutation_p.Q376*|CSF1_ENST00000420111.2_Nonsense_Mutation_p.Q194*	p.Q492*	NM_000757.5|NM_172211.3	NP_000748.3|NP_757350.1	P09603	CSF1_HUMAN		Lung(183;0.0238)|Colorectal(144;0.112)|all cancers(265;0.117)|Epithelial(280;0.127)|LUSC - Lung squamous cell carcinoma(189;0.135)	6	1865	+		all_epithelial(167;3.58e-05)|all_lung(203;0.000116)|Lung NSC(277;0.000233)|Acute lymphoblastic leukemia(138;0.204)	492					A8K6J5|Q13130|Q14086|Q14806|Q5VVF3|Q5VVF4|Q9UQR8	Nonsense_Mutation	SNP	ENST00000329608.6	37	c.1474C>T	CCDS816.1	.	.	.	.	.	.	.	.	.	.	C	11.79	1.742768	0.30865	.	.	ENSG00000184371	ENST00000344188;ENST00000329608;ENST00000369802;ENST00000420111;ENST00000369801	.	.	.	5.04	4.11	0.48088	.	0.401299	0.20690	N	0.087476	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.40728	T	0.16	.	8.2159	0.31511	0.1793:0.6475:0.1732:0.0	.	.	.	.	X	376;492;492;194;376	.	ENSP00000327513:Q492X	Q	+	1	0	CSF1	110268240	0.011000	0.17503	0.011000	0.14972	0.014000	0.08584	0.685000	0.25378	1.312000	0.45043	0.467000	0.42956	CAG		0.622	CSF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032208.1	NM_000757		14	30	0	0	0	1	0	14	30					T	110466717	C	T	110466717	4	4	435	1	0	0	0	0	0	1	0	0	3931	711	25	3	1496	3	CSF1	1	110466717	Nonsense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	167053	110466717	138783904	477	21402											
AHCYL1	10768	broad.mit.edu	37	chr1	110559021	110559021	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttccggccatgaacgtcaatGattctgttaccaaacagaag	13	10	8	10	2	2	3	1	2	1	1	3	3	3	3	3	1	3	1	3	1	5	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:110559021G>A	ENST00000369799.5	+	8	1205	c.838G>A	c.(838-840)Gat>Aat	p.D280N	AHCYL1_ENST00000393614.4_Missense_Mutation_p.D233N|AHCYL1_ENST00000359172.3_Missense_Mutation_p.D233N	NM_001242673.1|NM_001242674.1|NM_006621.5	NP_001229602.1|NP_001229603.1|NP_006612.2	O43865	SAHH2_HUMAN	adenosylhomocysteinase-like 1	280					mRNA polyadenylation (GO:0006378)|one-carbon metabolic process (GO:0006730)|positive regulation of sodium ion transport (GO:0010765)|protein export from nucleus (GO:0006611)|regulation of anion transport (GO:0044070)|regulation of ion transmembrane transporter activity (GO:0032412)|regulation of mRNA 3'-end processing (GO:0031440)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)	adenosylhomocysteinase activity (GO:0004013)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)	18		all_epithelial(167;3.58e-05)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0259)|Colorectal(144;0.123)|all cancers(265;0.134)|Epithelial(280;0.141)|LUSC - Lung squamous cell carcinoma(189;0.143)		GAACGTCAATGATTCTGTTAC	0.418																																						ENST00000369799.5																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)	18						c.(838-840)Gat>Aat		adenosylhomocysteinase-like 1							96	102	100					1																	110559021		2203	4300	6503	SO:0001583	missense	10768				one-carbon metabolic process	endoplasmic reticulum	adenosylhomocysteinase activity	g.chr1:110559021G>A	U82761	CCDS818.1, CCDS55620.1	1p13	2014-06-12	2009-06-12		ENSG00000168710	ENSG00000168710			344	protein-coding gene	gene with protein product	"inositol 1,4,5-trisphosphate receptor-binding protein", "protein phosphatase 1, regulatory subunit 78"	607826	"S-adenosylhomocysteine hydrolase-like 1"			11904675, 16754674, 12525476	Standard	NM_006621		Approved	XPVKONA, IRBIT, PPP1R78	uc001dyx.3	O43865	OTTHUMG00000011652	ENST00000369799.5:c.838G>A	1.37:g.110559021G>A	ENSP00000358814:p.Asp280Asn					AHCYL1_ENST00000393614.4_Missense_Mutation_p.D233N|AHCYL1_ENST00000359172.3_Missense_Mutation_p.D233N	p.D280N	NM_001242673.1|NM_001242674.1|NM_006621.5	NP_001229602.1|NP_001229603.1|NP_006612.2	O43865	SAHH2_HUMAN		Lung(183;0.0259)|Colorectal(144;0.123)|all cancers(265;0.134)|Epithelial(280;0.141)|LUSC - Lung squamous cell carcinoma(189;0.143)	8	1205	+		all_epithelial(167;3.58e-05)|all_lung(203;0.000116)|Lung NSC(277;0.000233)	280					B4E168|Q2TAJ6|Q502W8|Q5VSM0|Q6P171|Q96PK4|Q9UG84	Missense_Mutation	SNP	ENST00000369799.5	37	c.838G>A	CCDS818.1	.	.	.	.	.	.	.	.	.	.	G	32	5.145778	0.94603	.	.	ENSG00000168710	ENST00000369799;ENST00000359172;ENST00000393614	D;D;D	0.84070	-1.8;-1.8;-1.8	5.85	5.85	0.93711	.	0.000000	0.85682	D	0.000000	D	0.91794	0.7404	M	0.85630	2.765	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.91929	0.5553	10	0.72032	D	0.01	-6.3055	20.1649	0.98147	0.0:0.0:1.0:0.0	.	280	O43865	SAHH2_HUMAN	N	280;233;233	ENSP00000358814:D280N;ENSP00000352092:D233N;ENSP00000377238:D233N	ENSP00000352092:D233N	D	+	1	0	AHCYL1	110360544	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.869000	0.99810	2.753000	0.94483	0.655000	0.94253	GAT		0.418	AHCYL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032243.1			44	63	0	0	0	1	0	44	63					A	110559021	G	A	110559021	3	1	435	1	0	0	0	0	1	0	0	0	410	1290	45	3	868	3	AHCYL1	1	110559021	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	92304	110559021	138691600	478	21403											
AHCYL1	10768	broad.mit.edu	37	chr1	110561184	110561184	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttcctttcagaccagcctccGcactccggagctgacgtggg	6	9	11	15	3	1	2	1	1	0	1	4	3	4	3	5	2	2	2	5	2	0	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:110561184G>A	ENST00000369799.5	+	13	1596	c.1229G>A	c.(1228-1230)cGc>cAc	p.R410H	AHCYL1_ENST00000393614.4_Missense_Mutation_p.R363H|AHCYL1_ENST00000359172.3_Missense_Mutation_p.R363H	NM_001242673.1|NM_001242674.1|NM_006621.5	NP_001229602.1|NP_001229603.1|NP_006612.2	O43865	SAHH2_HUMAN	adenosylhomocysteinase-like 1	410	NAD binding. {ECO:0000250}.				mRNA polyadenylation (GO:0006378)|one-carbon metabolic process (GO:0006730)|positive regulation of sodium ion transport (GO:0010765)|protein export from nucleus (GO:0006611)|regulation of anion transport (GO:0044070)|regulation of ion transmembrane transporter activity (GO:0032412)|regulation of mRNA 3'-end processing (GO:0031440)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)	adenosylhomocysteinase activity (GO:0004013)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)	18		all_epithelial(167;3.58e-05)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0259)|Colorectal(144;0.123)|all cancers(265;0.134)|Epithelial(280;0.141)|LUSC - Lung squamous cell carcinoma(189;0.143)		ACCAGCCTCCGCACTCCGGAG	0.502																																						ENST00000369799.5																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)	18						c.(1228-1230)cGc>cAc		adenosylhomocysteinase-like 1							73	57	62					1																	110561184		2203	4300	6503	SO:0001583	missense	10768				one-carbon metabolic process	endoplasmic reticulum	adenosylhomocysteinase activity	g.chr1:110561184G>A	U82761	CCDS818.1, CCDS55620.1	1p13	2014-06-12	2009-06-12		ENSG00000168710	ENSG00000168710			344	protein-coding gene	gene with protein product	"inositol 1,4,5-trisphosphate receptor-binding protein", "protein phosphatase 1, regulatory subunit 78"	607826	"S-adenosylhomocysteine hydrolase-like 1"			11904675, 16754674, 12525476	Standard	NM_006621		Approved	XPVKONA, IRBIT, PPP1R78	uc001dyx.3	O43865	OTTHUMG00000011652	ENST00000369799.5:c.1229G>A	1.37:g.110561184G>A	ENSP00000358814:p.Arg410His					AHCYL1_ENST00000393614.4_Missense_Mutation_p.R363H|AHCYL1_ENST00000359172.3_Missense_Mutation_p.R363H	p.R410H	NM_001242673.1|NM_001242674.1|NM_006621.5	NP_001229602.1|NP_001229603.1|NP_006612.2	O43865	SAHH2_HUMAN		Lung(183;0.0259)|Colorectal(144;0.123)|all cancers(265;0.134)|Epithelial(280;0.141)|LUSC - Lung squamous cell carcinoma(189;0.143)	13	1596	+		all_epithelial(167;3.58e-05)|all_lung(203;0.000116)|Lung NSC(277;0.000233)	410			NAD binding (By similarity).		B4E168|Q2TAJ6|Q502W8|Q5VSM0|Q6P171|Q96PK4|Q9UG84	Missense_Mutation	SNP	ENST00000369799.5	37	c.1229G>A	CCDS818.1	.	.	.	.	.	.	.	.	.	.	G	19.58	3.854645	0.71719	.	.	ENSG00000168710	ENST00000369799;ENST00000359172;ENST00000393614	T;T;T	0.78246	-1.16;-1.14;-1.14	5.42	5.42	0.78866	S-adenosyl-L-homocysteine hydrolase, NAD binding (1);	0.000000	0.85682	D	0.000000	T	0.64416	0.2596	L	0.45352	1.415	0.80722	D	1	B	0.12013	0.005	B	0.08055	0.003	T	0.62148	-0.6915	10	0.49607	T	0.09	-18.1059	19.2323	0.93845	0.0:0.0:1.0:0.0	.	410	O43865	SAHH2_HUMAN	H	410;363;363	ENSP00000358814:R410H;ENSP00000352092:R363H;ENSP00000377238:R363H	ENSP00000352092:R363H	R	+	2	0	AHCYL1	110362707	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.869000	0.99810	2.541000	0.85698	0.655000	0.94253	CGC		0.502	AHCYL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032243.1			10	15	0	0	0	1	0	10	15					A	110561184	G	A	110561184	3	1	435	1	0	0	0	0	1	0	0	0	410	1087	38	1	1279	1	AHCYL1	1	110561184	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	2163	110561184	138689437	479	21404											
FAM40A	85369	broad.mit.edu	37	chr1	110584162	110584162	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tggctcttgtcctcagggtcCtgctcaacatcatgtacctg	6	13	9	13	0	4	0	3	0	1	0	6	0	6	0	3	2	3	3	3	2	2	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:110584162C>A	ENST00000369795.3	+	7	677	c.655C>A	c.(655-657)Ctg>Atg	p.L219M	STRIP1_ENST00000369796.1_Missense_Mutation_p.L124M	NM_033088.3	NP_149079.2	Q5VSL9	STRP1_HUMAN	striatin interacting protein 1	219					cortical actin cytoskeleton organization (GO:0030866)|regulation of cell morphogenesis (GO:0022604)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)											CCTCAGGGTCCTGCTCAACAT	0.547																																						ENST00000369795.3																			0											c.(655-657)Ctg>Atg		striatin interacting protein 1							80	71	74					1																	110584162		2203	4300	6503	SO:0001583	missense	85369							g.chr1:110584162C>A	AK027649	CCDS30798.1, CCDS59197.1	1p13.3	2012-11-05	2012-11-05	2012-11-05	ENSG00000143093	ENSG00000143093			25916	protein-coding gene	gene with protein product	"FAR11 factor arrest 11 homolog A (yeast)"		"family with sequence similarity 40, member A"	FAM40A		11214970, 12588993, 22782902, 22298706, 18782753	Standard	NM_033088		Approved	FLJ14743, KIAA1761, FAR11A	uc001dza.2	Q5VSL9	OTTHUMG00000170607	ENST00000369795.3:c.655C>A	1.37:g.110584162C>A	ENSP00000358810:p.Leu219Met					STRIP1_ENST00000369796.1_Missense_Mutation_p.L124M	p.L219M	NM_033088.2	NP_149079.2					7	677	+								Q0V925|Q5VSL8|Q658K2|Q6ZV31|Q8N598|Q96SN2|Q9C0A2	Missense_Mutation	SNP	ENST00000369795.3	37	c.655C>A	CCDS30798.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.029520	0.75504	.	.	ENSG00000143093	ENST00000369796;ENST00000369795	T;T	0.49720	0.78;0.77	6.17	4.3	0.51218	.	0.000000	0.85682	D	0.000000	T	0.59676	0.2211	M	0.81239	2.535	0.80722	D	1	D;D	0.89917	1.0;0.961	D;D	0.79108	0.992;0.938	T	0.66048	-0.6020	10	0.62326	D	0.03	-17.1271	12.046	0.53480	0.0:0.8589:0.0:0.1411	.	124;219	Q5VSL9-2;Q5VSL9	.;FA40A_HUMAN	M	124;219	ENSP00000358811:L124M;ENSP00000358810:L219M	ENSP00000358810:L219M	L	+	1	2	FAM40A	110385685	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	3.058000	0.49939	0.912000	0.36772	-0.140000	0.14226	CTG		0.547	STRIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032213.1	NM_033088		9	24	1	0	0.000274275	1	0.000279654	9	24					A	110584162	C	A	110584162	3	1	435	1	0	0	0	0	1	0	0	0	5560	680	24	5	681	5	FAM40A	1	110584162	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	22978	110584162	138666459	480	21405											
SLC6A17	388662	broad.mit.edu	37	chr1	110716609	110716609	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccccaggtctgtctctttgtGgggctgtattataatgtgat	6	16	11	8	0	2	1	0	1	2	0	3	1	2	1	2	3	0	2	2	3	3	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:110716609G>T	ENST00000331565.4	+	4	944	c.459G>T	c.(457-459)gtG>gtT	p.V153V	RP5-1028L10.1_ENST00000443008.1_RNA	NM_001010898.2	NP_001010898.1	Q9H1V8	S6A17_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 17	153					alanine transport (GO:0032328)|glycine transport (GO:0015816)|leucine transport (GO:0015820)|neutral amino acid transport (GO:0015804)|proline transport (GO:0015824)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|synaptic vesicle (GO:0008021)	neurotransmitter:sodium symporter activity (GO:0005328)			breast(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	37		all_cancers(81;9.9e-06)|all_epithelial(167;3.24e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0282)|Epithelial(280;0.0372)|all cancers(265;0.0378)|Colorectal(144;0.0438)|LUSC - Lung squamous cell carcinoma(189;0.151)|COAD - Colon adenocarcinoma(174;0.151)		GTCTCTTTGTGGGGCTGTATT	0.587																																						ENST00000331565.4																			0				breast(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	37						c.(457-459)gtG>gtT		solute carrier family 6 (neutral amino acid transporter), member 17							171	175	174					1																	110716609		2203	4300	6503	SO:0001819	synonymous_variant	388662				alanine transport|glycine transport|leucine transport|proline transport	cell junction|integral to plasma membrane|synaptic vesicle membrane	neurotransmitter:sodium symporter activity	g.chr1:110716609G>T		CCDS30799.1	1p13.2	2013-07-19	2013-07-19		ENSG00000197106	ENSG00000197106		"Solute carriers"	31399	protein-coding gene	gene with protein product		610299	"solute carrier family 6 (neurotransmitter transporter), member 17", "solute carrier family 6, member 17"				Standard	NM_001010898		Approved		uc009wfq.3	Q9H1V8	OTTHUMG00000011761	ENST00000331565.4:c.459G>T	1.37:g.110716609G>T							p.V153V	NM_001010898.2	NP_001010898.1	Q9H1V8	S6A17_HUMAN		Lung(183;0.0282)|Epithelial(280;0.0372)|all cancers(265;0.0378)|Colorectal(144;0.0438)|LUSC - Lung squamous cell carcinoma(189;0.151)|COAD - Colon adenocarcinoma(174;0.151)	4	944	+		all_cancers(81;9.9e-06)|all_epithelial(167;3.24e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)	153					A6NEA8|A8K1R7|B9EIR5|Q5T5Q9	Silent	SNP	ENST00000331565.4	37	c.459G>T	CCDS30799.1																																																																																				0.587	SLC6A17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032550.2	XM_371280		37	56	1	0	9.62906e-15	1	1.05217e-14	37	56					T	110716609	G	T	110716609	2	4	435	1	0	0	0	0	0	0	0	1	14680	1335	47	5		5	SLC6A17	1	110716609	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	132447	110716609	138534012	481	21406											
KCNA2	3737	broad.mit.edu	37	chr1	111147039	111147039	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcttcccgaaacatctccatCgcttcttctcccagctcata	8	13	3	17	2	5	0	1	0	4	0	9	1	6	0	3	0	2	2	3	0	2	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:111147039C>T	ENST00000485317.1	-	3	1039	c.366G>A	c.(364-366)gcG>gcA	p.A122A	KCNA2_ENST00000316361.4_Silent_p.A122A|KCNA2_ENST00000440270.1_Silent_p.A122A|KCNA2_ENST00000369770.3_Silent_p.A122A|KCNA2_ENST00000525120.1_Intron			P16389	KCNA2_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 2	122					optic nerve structural organization (GO:0021633)|potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	juxtaparanode region of axon (GO:0044224)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|outward rectifier potassium channel activity (GO:0015271)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)			endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	32		all_cancers(81;5.55e-06)|all_epithelial(167;1.87e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Colorectal(144;0.00878)|Lung(183;0.0234)|all cancers(265;0.0492)|Epithelial(280;0.0529)|COAD - Colon adenocarcinoma(174;0.131)|LUSC - Lung squamous cell carcinoma(189;0.133)|READ - Rectum adenocarcinoma(129;0.191)	Dalfampridine(DB06637)	ACATCTCCATCGCTTCTTCTC	0.468																																					Pancreas(18;568 735 10587 23710 36357)	ENST00000485317.1																			0				endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	32						c.(364-366)gcG>gcA		potassium voltage-gated channel, shaker-related subfamily, member 2							46	47	47					1																	111147039		2203	4300	6503	SO:0001819	synonymous_variant	3737					juxtaparanode region of axon|voltage-gated potassium channel complex	delayed rectifier potassium channel activity	g.chr1:111147039C>T	L02752	CCDS827.1, CCDS55625.1	1p13	2012-07-05			ENSG00000177301	ENSG00000177301		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6220	protein-coding gene	gene with protein product		176262				16382104	Standard	NM_004974		Approved	Kv1.2, HK4	uc009wfw.3	P16389	OTTHUMG00000011567	ENST00000485317.1:c.366G>A	1.37:g.111147039C>T						KCNA2_ENST00000525120.1_Intron|KCNA2_ENST00000316361.4_Silent_p.A122A|KCNA2_ENST00000440270.1_Silent_p.A122A|KCNA2_ENST00000369770.3_Silent_p.A122A	p.A122A			P16389	KCNA2_HUMAN		Colorectal(144;0.00878)|Lung(183;0.0234)|all cancers(265;0.0492)|Epithelial(280;0.0529)|COAD - Colon adenocarcinoma(174;0.131)|LUSC - Lung squamous cell carcinoma(189;0.133)|READ - Rectum adenocarcinoma(129;0.191)	3	1039	-		all_cancers(81;5.55e-06)|all_epithelial(167;1.87e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)	122					Q86XG6	Silent	SNP	ENST00000485317.1	37	c.366G>A	CCDS827.1																																																																																				0.468	KCNA2-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128001.2	NM_004974		16	29	0	0	0	1	0	16	29					T	111147039	C	T	111147039	2	4	435	1	0	0	0	0	0	0	0	1	8003	871	31	2		2	KCNA2	1	111147039	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	430430	111147039	138103582	482	21407											
KCNA3	3738	broad.mit.edu	37	chr1	111216429	111216429	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gataaaataaggaatgatggCcacaatgtcgatcaggttca	16	9	10	6	1	2	1	2	1	0	0	3	4	2	2	1	3	0	1	1	3	5	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:111216429C>T	ENST00000369769.2	-	1	1226	c.1003G>A	c.(1003-1005)Gcc>Acc	p.A335T		NM_002232.3	NP_002223.3	P22001	KCNA3_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 3	335					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	membrane raft (GO:0045121)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|outward rectifier potassium channel activity (GO:0015271)|voltage-gated ion channel activity (GO:0005244)			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(7)|ovary(4)|pancreas(1)|prostate(3)|skin(1)	38		all_cancers(81;3.92e-06)|all_epithelial(167;1.28e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Lung(183;0.0235)|Colorectal(144;0.0306)|all cancers(265;0.0752)|Epithelial(280;0.0821)|COAD - Colon adenocarcinoma(174;0.132)|LUSC - Lung squamous cell carcinoma(189;0.133)	Dalfampridine(DB06637)	GGAATGATGGCCACAATGTCG	0.537																																						ENST00000369769.2																			0				endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(7)|ovary(4)|pancreas(1)|prostate(3)|skin(1)	38						c.(1003-1005)Gcc>Acc		potassium voltage-gated channel, shaker-related subfamily, member 3							89	88	88					1																	111216429		2203	4300	6503	SO:0001583	missense	3738					voltage-gated potassium channel complex	delayed rectifier potassium channel activity	g.chr1:111216429C>T	L23499	CCDS828.2	1p13.3	2012-07-05			ENSG00000177272	ENSG00000177272		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6221	protein-coding gene	gene with protein product		176263				2251283, 16382104	Standard	NM_002232		Approved	Kv1.3, MK3, HLK3, HPCN3	uc001dzv.1	P22001	OTTHUMG00000034493	ENST00000369769.2:c.1003G>A	1.37:g.111216429C>T	ENSP00000358784:p.Ala335Thr						p.A335T	NM_002232.3	NP_002223.3	P22001	KCNA3_HUMAN		Lung(183;0.0235)|Colorectal(144;0.0306)|all cancers(265;0.0752)|Epithelial(280;0.0821)|COAD - Colon adenocarcinoma(174;0.132)|LUSC - Lung squamous cell carcinoma(189;0.133)	1	1226	-		all_cancers(81;3.92e-06)|all_epithelial(167;1.28e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)	335					Q5VWN2	Missense_Mutation	SNP	ENST00000369769.2	37	c.1003G>A	CCDS828.2	.	.	.	.	.	.	.	.	.	.	C	24.8	4.566626	0.86439	.	.	ENSG00000177272	ENST00000369769	D	0.98684	-5.07	5.37	5.37	0.77165	Ion transport (1);	0.000000	0.85682	U	0.000000	D	0.99239	0.9735	M	0.86805	2.84	0.80722	D	1	D	0.76494	0.999	D	0.72982	0.979	D	0.99616	1.0982	10	0.87932	D	0	.	19.1005	0.93272	0.0:1.0:0.0:0.0	.	335	P22001	KCNA3_HUMAN	T	335	ENSP00000358784:A335T	ENSP00000358784:A335T	A	-	1	0	KCNA3	111017952	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.727000	0.84838	2.516000	0.84829	0.655000	0.94253	GCC		0.537	KCNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083391.1	NM_002232		22	34	0	0	0	1	0	22	34					T	111216429	C	T	111216429	3	4	435	1	0	0	0	0	1	0	0	0	8004	739	26	3	728	3	KCNA3	1	111216429	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	69390	111216429	138034192	483	21408											
KCNA3	3738	broad.mit.edu	37	chr1	111216459	111216459	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatcaggttcatgatgtttcGcgagaaggtggctttgctag	8	13	14	6	2	2	2	2	1	0	1	3	4	2	2	0	3	1	4	0	3	2	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:111216459G>A	ENST00000369769.2	-	1	1196	c.973C>T	c.(973-975)Cga>Tga	p.R325*		NM_002232.3	NP_002223.3	P22001	KCNA3_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 3	325					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	membrane raft (GO:0045121)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|outward rectifier potassium channel activity (GO:0015271)|voltage-gated ion channel activity (GO:0005244)	p.R325*(1)		endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(7)|ovary(4)|pancreas(1)|prostate(3)|skin(1)	38		all_cancers(81;3.92e-06)|all_epithelial(167;1.28e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Lung(183;0.0235)|Colorectal(144;0.0306)|all cancers(265;0.0752)|Epithelial(280;0.0821)|COAD - Colon adenocarcinoma(174;0.132)|LUSC - Lung squamous cell carcinoma(189;0.133)	Dalfampridine(DB06637)	ATGATGTTTCGCGAGAAGGTG	0.532																																						ENST00000369769.2																			1	Substitution - Nonsense(1)	p.R325*(1)	endometrium(1)	endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(7)|ovary(4)|pancreas(1)|prostate(3)|skin(1)	38						c.(973-975)Cga>Tga		potassium voltage-gated channel, shaker-related subfamily, member 3							87	85	86					1																	111216459		2203	4300	6503	SO:0001587	stop_gained	3738					voltage-gated potassium channel complex	delayed rectifier potassium channel activity	g.chr1:111216459G>A	L23499	CCDS828.2	1p13.3	2012-07-05			ENSG00000177272	ENSG00000177272		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6221	protein-coding gene	gene with protein product		176263				2251283, 16382104	Standard	NM_002232		Approved	Kv1.3, MK3, HLK3, HPCN3	uc001dzv.1	P22001	OTTHUMG00000034493	ENST00000369769.2:c.973C>T	1.37:g.111216459G>A	ENSP00000358784:p.Arg325*						p.R325*	NM_002232.3	NP_002223.3	P22001	KCNA3_HUMAN		Lung(183;0.0235)|Colorectal(144;0.0306)|all cancers(265;0.0752)|Epithelial(280;0.0821)|COAD - Colon adenocarcinoma(174;0.132)|LUSC - Lung squamous cell carcinoma(189;0.133)	1	1196	-		all_cancers(81;3.92e-06)|all_epithelial(167;1.28e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)	325					Q5VWN2	Nonsense_Mutation	SNP	ENST00000369769.2	37	c.973C>T	CCDS828.2	.	.	.	.	.	.	.	.	.	.	G	37	6.324548	0.97476	.	.	ENSG00000177272	ENST00000369769	.	.	.	5.26	1.94	0.25998	.	0.064498	0.56097	U	0.000025	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.06757	T	0.87	.	15.259	0.73606	0.0:0.0:0.2539:0.7461	.	.	.	.	X	325	.	ENSP00000358784:R325X	R	-	1	2	KCNA3	111017982	1.000000	0.71417	0.585000	0.28666	0.998000	0.95712	1.677000	0.37576	0.060000	0.16281	0.655000	0.94253	CGA		0.532	KCNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083391.1	NM_002232		11	47	0	0	0	1	0	11	47					A	111216459	G	A	111216459	4	1	435	1	0	0	0	0	0	1	0	0	8004	1095	38	1	758	1	KCNA3	1	111216459	Nonsense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	30	111216459	138034162	484	21409											
C1orf103	55791	broad.mit.edu	37	chr1	111492507	111492507	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttccttcaccataaactctGtctctttgtaagtaccactc	9	15	3	14	0	3	0	1	0	2	0	6	0	4	0	3	0	2	2	3	0	4	6	rs144495047	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:111492507G>C	ENST00000369763.4	-	3	2225	c.1835C>G	c.(1834-1836)aCa>aGa	p.T612R	RP11-96K19.2_ENST00000440689.1_RNA|LRIF1_ENST00000485275.2_Missense_Mutation_p.T76R|LRIF1_ENST00000494675.1_Missense_Mutation_p.T76R	NM_018372.3	NP_060842.3	Q5T3J3	LRIF1_HUMAN	ligand dependent nuclear receptor interacting factor 1	612					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	actin cytoskeleton (GO:0015629)|nucleus (GO:0005634)				endometrium(2)|kidney(2)|large_intestine(7)|lung(12)|ovary(2)|skin(1)|urinary_tract(2)	28						CATAAACTCTGTCTCTTTGTA	0.373																																						ENST00000369763.4																			0				endometrium(2)|kidney(2)|large_intestine(7)|lung(12)|ovary(2)|skin(1)|urinary_tract(2)	28						c.(1834-1836)aCa>aGa		ligand dependent nuclear receptor interacting factor 1							181	188	186					1																	111492507		2203	4300	6503	SO:0001583	missense	55791				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear matrix	protein binding	g.chr1:111492507G>C	AY190122	CCDS30800.1, CCDS41366.1	1p13.3	2011-04-15	2011-04-15	2011-04-15	ENSG00000121931	ENSG00000121931			30299	protein-coding gene	gene with protein product	"receptor interacting factor 1"	615354	"chromosome 1 open reading frame 103"	C1orf103		17455211	Standard	NM_018372		Approved	RIF1, FLJ11269	uc001eaa.3	Q5T3J3	OTTHUMG00000011913	ENST00000369763.4:c.1835C>G	1.37:g.111492507G>C	ENSP00000358778:p.Thr612Arg					LRIF1_ENST00000485275.2_Missense_Mutation_p.T76R|RP11-96K19.2_ENST00000440689.1_RNA|LRIF1_ENST00000494675.1_Missense_Mutation_p.T76R	p.T612R	NM_018372.3	NP_060842.3	Q5T3J3	LRIF1_HUMAN			3	2225	-			612					Q86XS4|Q8N3B6|Q96HT4|Q9NUM5|Q9NV32	Missense_Mutation	SNP	ENST00000369763.4	37	c.1835C>G	CCDS30800.1	.	.	.	.	.	.	.	.	.	.	G	10.86	1.468480	0.26335	.	.	ENSG00000121931	ENST00000369763;ENST00000494675;ENST00000485275	T;T;T	0.31510	1.91;1.49;1.49	5.69	3.77	0.43336	.	0.673920	0.14345	N	0.325441	T	0.14227	0.0344	L	0.47716	1.5	0.09310	N	1	P;B	0.36183	0.542;0.078	B;B	0.40066	0.318;0.118	T	0.15037	-1.0451	10	0.66056	D	0.02	-0.0082	7.2871	0.26346	0.086:0.0:0.7477:0.1664	.	76;612	Q5T3J3-2;Q5T3J3	.;LRIF1_HUMAN	R	612;76;76	ENSP00000358778:T612R;ENSP00000435259:T76R;ENSP00000432290:T76R	ENSP00000358778:T612R	T	-	2	0	LRIF1	111294030	0.091000	0.21658	0.001000	0.08648	0.570000	0.35934	2.849000	0.48286	0.713000	0.32060	0.563000	0.77884	ACA		0.373	LRIF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000032932.2	NM_018372		26	38	0	0	0	1	0	26	38					C	111492507	G	C	111492507	3	2	435	1	0	0	0	0	1	0	0	0	1977	1377	48	5	482	5	C1orf103	1	111492507	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	276048	111492507	137758114	485	21410											
C1orf103	55791	broad.mit.edu	37	chr1	111494603	111494603	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttaacaggaacaagagatggCgtaaaaggctgtagattatc	16	9	11	5	1	0	2	0	0	0	2	1	4	0	3	0	3	2	3	0	3	7	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:111494603C>T	ENST00000369763.4	-	2	1293	c.903G>A	c.(901-903)acG>acA	p.T301T	RP11-96K19.2_ENST00000440689.1_RNA|LRIF1_ENST00000485275.2_Intron|LRIF1_ENST00000494675.1_Intron	NM_018372.3	NP_060842.3	Q5T3J3	LRIF1_HUMAN	ligand dependent nuclear receptor interacting factor 1	301					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	actin cytoskeleton (GO:0015629)|nucleus (GO:0005634)				endometrium(2)|kidney(2)|large_intestine(7)|lung(12)|ovary(2)|skin(1)|urinary_tract(2)	28						CAAGAGATGGCGTAAAAGGCT	0.348																																						ENST00000369763.4																			0				endometrium(2)|kidney(2)|large_intestine(7)|lung(12)|ovary(2)|skin(1)|urinary_tract(2)	28						c.(901-903)acG>acA		ligand dependent nuclear receptor interacting factor 1							100	95	96					1																	111494603		2203	4300	6503	SO:0001819	synonymous_variant	55791				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear matrix	protein binding	g.chr1:111494603C>T	AY190122	CCDS30800.1, CCDS41366.1	1p13.3	2011-04-15	2011-04-15	2011-04-15	ENSG00000121931	ENSG00000121931			30299	protein-coding gene	gene with protein product	"receptor interacting factor 1"	615354	"chromosome 1 open reading frame 103"	C1orf103		17455211	Standard	NM_018372		Approved	RIF1, FLJ11269	uc001eaa.3	Q5T3J3	OTTHUMG00000011913	ENST00000369763.4:c.903G>A	1.37:g.111494603C>T						LRIF1_ENST00000485275.2_Intron|RP11-96K19.2_ENST00000440689.1_RNA|LRIF1_ENST00000494675.1_Intron	p.T301T	NM_018372.3	NP_060842.3	Q5T3J3	LRIF1_HUMAN			2	1293	-			301					Q86XS4|Q8N3B6|Q96HT4|Q9NUM5|Q9NV32	Silent	SNP	ENST00000369763.4	37	c.903G>A	CCDS30800.1																																																																																				0.348	LRIF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000032932.2	NM_018372		28	39	0	0	0	1	0	28	39					T	111494603	C	T	111494603	2	4	435	1	0	0	0	0	0	0	0	1	1977	755	27	1		1	C1orf103	1	111494603	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	2096	111494603	137756018	486	21411											
C1orf88	128344	broad.mit.edu	37	chr1	111889622	111889622	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttgattgggaacaagtttgTccctcttaggggatcacccc	8	13	10	10	0	2	1	1	1	1	0	3	3	3	3	3	3	1	1	3	3	3	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:111889622T>C	ENST00000369738.4	+	2	475	c.110T>C	c.(109-111)gTc>gCc	p.V37A	PIFO_ENST00000484512.1_3'UTR|PIFO_ENST00000369737.4_Missense_Mutation_p.V37A	NM_181643.4	NP_857594.2	Q8TCI5	PIFO_HUMAN	primary cilia formation	37					cell projection organization (GO:0030030)|positive regulation of kinase activity (GO:0033674)|regulation of cell projection organization (GO:0031344)	ciliary basal body (GO:0036064)|cytoplasmic vesicle (GO:0031410)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	beta-tubulin binding (GO:0048487)|gamma-tubulin binding (GO:0043015)|kinesin binding (GO:0019894)|protein kinase binding (GO:0019901)|Rab GTPase binding (GO:0017137)										AACAAGTTTGTCCCTCTTAGG	0.473																																						ENST00000369738.4																			0											c.(109-111)gTc>gCc		primary cilia formation							84	80	81					1																	111889622		2203	4300	6503	SO:0001583	missense	128344							g.chr1:111889622T>C	BC050319	CCDS833.1, CCDS72836.1	1p13.2	2012-10-10	2012-10-10	2012-10-10	ENSG00000173947	ENSG00000173947			27009	protein-coding gene	gene with protein product		614234	"chromosome 1 open reading frame 88"	C1orf88		20643351	Standard	XM_005270472		Approved	FLJ23853, pitchfork	uc001eaw.2	Q8TCI5	OTTHUMG00000011168	ENST00000369738.4:c.110T>C	1.37:g.111889622T>C	ENSP00000358753:p.Val37Ala					PIFO_ENST00000369737.4_Missense_Mutation_p.V37A|PIFO_ENST00000484512.1_3'UTR	p.V37A	NM_181643.4	NP_857594.2					2	475	+								D9J0A2|D9J0A3|Q4G0K4|Q52LJ6|Q5T5D5|Q5T5D6|Q8N310	Missense_Mutation	SNP	ENST00000369738.4	37	c.110T>C	CCDS833.1	.	.	.	.	.	.	.	.	.	.	T	6.725	0.502467	0.12822	.	.	ENSG00000173947	ENST00000369738;ENST00000369737	T;T	0.24908	1.83;1.83	5.1	2.8	0.32819	.	0.572940	0.16433	N	0.214647	T	0.05410	0.0143	N	0.21194	0.64	0.21147	N	0.999776	P;B;B	0.42871	0.792;0.372;0.372	B;B;B	0.40864	0.342;0.121;0.121	T	0.27872	-1.0061	10	0.18710	T	0.47	-1.4664	6.523	0.22285	0.0:0.1885:0.0:0.8115	.	37;37;37	Q8TCI5-2;Q8TCI5-3;Q8TCI5	.;.;PIFO_HUMAN	A	37	ENSP00000358753:V37A;ENSP00000358752:V37A	ENSP00000358752:V37A	V	+	2	0	C1orf88	111691145	0.557000	0.26546	0.992000	0.48379	0.870000	0.49936	0.960000	0.29253	0.423000	0.26033	0.459000	0.35465	GTC		0.473	PIFO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030718.1	NM_181643		18	31	0	0	0	1	0	18	31					C	111889622	T	C	111889622	3	2	435	1	0	0	0	0	1	0	0	0	2065	1667	58	4	116	4	C1orf88	1	111889622	Missense_Mutation	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	395019	111889622	137360999	487	21412											
OVGP1	5016	broad.mit.edu	37	chr1	111965561	111965561	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccactcaccttcctagaaagCgcacatcataggatgtttgg	11	10	8	12	1	2	1	2	0	0	1	3	2	3	2	3	2	1	2	3	2	3	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:111965561C>T	ENST00000369732.3	-	6	651	c.596G>A	c.(595-597)cGc>cAc	p.R199H	OVGP1_ENST00000540696.1_Missense_Mutation_p.R139H|OVGP1_ENST00000481495.1_5'UTR	NM_002557.3	NP_002548.3	Q12889	OVGP1_HUMAN	oviductal glycoprotein 1, 120kDa	199					binding of sperm to zona pellucida (GO:0007339)|carbohydrate metabolic process (GO:0005975)|chitin catabolic process (GO:0006032)|female pregnancy (GO:0007565)|multicellular organism reproduction (GO:0032504)|negative regulation of binding of sperm to zona pellucida (GO:2000360)|single fertilization (GO:0007338)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|egg coat (GO:0035805)|perivitelline space (GO:0098595)	chitinase activity (GO:0004568)			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	39		all_cancers(81;8.18e-06)|all_epithelial(167;5.64e-06)|all_lung(203;0.000152)|Lung NSC(277;0.000302)		Lung(183;0.0253)|Colorectal(144;0.033)|all cancers(265;0.0552)|Epithelial(280;0.0802)|COAD - Colon adenocarcinoma(174;0.123)|LUSC - Lung squamous cell carcinoma(189;0.14)		TCCTAGAAAGCGCACATCATA	0.562																																						ENST00000369732.3																			0				NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	39						c.(595-597)cGc>cAc		oviductal glycoprotein 1, 120kDa							236	223	227					1																	111965561		2203	4300	6503	SO:0001583	missense	5016				chitin catabolic process|female pregnancy|single fertilization	transport vesicle	cation binding|chitinase activity	g.chr1:111965561C>T	U09550	CCDS834.1	1p13.2	2008-07-31	2008-07-31		ENSG00000085465	ENSG00000085465		"Mucins"	8524	protein-coding gene	gene with protein product	"oviductin"	603578	"mucin 9"	MUC9		7819450, 9341614	Standard	NM_002557		Approved	CHIT5	uc001eba.3	Q12889	OTTHUMG00000011746	ENST00000369732.3:c.596G>A	1.37:g.111965561C>T	ENSP00000358747:p.Arg199His					OVGP1_ENST00000481495.1_5'UTR|OVGP1_ENST00000540696.1_Missense_Mutation_p.R139H	p.R199H	NM_002557.3	NP_002548.3	Q12889	OVGP1_HUMAN		Lung(183;0.0253)|Colorectal(144;0.033)|all cancers(265;0.0552)|Epithelial(280;0.0802)|COAD - Colon adenocarcinoma(174;0.123)|LUSC - Lung squamous cell carcinoma(189;0.14)	6	651	-		all_cancers(81;8.18e-06)|all_epithelial(167;5.64e-06)|all_lung(203;0.000152)|Lung NSC(277;0.000302)	199					A0AV19|B9EGE1|Q15841	Missense_Mutation	SNP	ENST00000369732.3	37	c.596G>A	CCDS834.1	.	.	.	.	.	.	.	.	.	.	C	9.766	1.171459	0.21621	.	.	ENSG00000085465	ENST00000369732;ENST00000369728;ENST00000540696	T;T	0.05855	3.38;3.63	4.11	-8.21	0.01041	Chitinase II (1);Glycoside hydrolase, family 18, catalytic domain (1);Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.440192	0.24568	N	0.037405	T	0.01061	0.0035	L	0.40543	1.245	0.09310	N	1	B;B	0.21309	0.019;0.054	B;B	0.18871	0.023;0.021	T	0.37934	-0.9684	10	0.45353	T	0.12	1.0121	3.0643	0.06210	0.2171:0.1458:0.4628:0.1743	.	199;263	Q12889;Q59HH5	OVGP1_HUMAN;.	H	199;263;139	ENSP00000358747:R199H;ENSP00000438449:R139H	ENSP00000358743:R263H	R	-	2	0	OVGP1	111767084	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-2.273000	0.01164	-1.770000	0.01295	-0.282000	0.10007	CGC		0.562	OVGP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032461.1	NM_002557		55	130	0	0	0	1	0	55	130					T	111965561	C	T	111965561	3	4	435	1	0	0	0	0	1	0	0	0	11325	768	27	1	1464	1	OVGP1	1	111965561	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	75939	111965561	137285060	488	21413											
WDR77	79084	broad.mit.edu	37	chr1	111983960	111983960	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtaagcagggagtgattgagCggggaccaagtcgcatctct	10	8	15	8	2	1	2	0	2	1	0	3	4	1	4	1	3	2	3	1	3	2	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:111983960C>T	ENST00000235090.5	-	10	1127	c.921G>A	c.(919-921)ccG>ccA	p.P307P	WDR77_ENST00000497278.1_5'UTR|WDR77_ENST00000411751.2_Silent_p.P243P|RP11-552M11.4_ENST00000416099.1_RNA	NM_024102.2	NP_077007.1	Q9BQA1	MEP50_HUMAN	WD repeat domain 77	307					gene expression (GO:0010467)|ncRNA metabolic process (GO:0034660)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|positive regulation of cell proliferation (GO:0008284)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|RNA metabolic process (GO:0016070)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)|spliceosomal snRNP assembly (GO:0000387)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|methylosome (GO:0034709)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)			NS(2)|endometrium(2)|kidney(2)|large_intestine(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10		all_cancers(81;0.000902)|all_epithelial(167;0.00056)|all_lung(203;0.00277)|Lung NSC(277;0.0043)		Lung(183;0.0238)|Colorectal(144;0.0296)|all cancers(265;0.0488)|Epithelial(280;0.0732)|COAD - Colon adenocarcinoma(174;0.114)|LUSC - Lung squamous cell carcinoma(189;0.135)		AGTGATTGAGCGGGGACCAAG	0.532																																						ENST00000235090.5																			0				NS(2)|endometrium(2)|kidney(2)|large_intestine(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10						c.(919-921)ccG>ccA		WD repeat domain 77							109	101	103					1																	111983960		2203	4300	6503	SO:0001819	synonymous_variant	79084				ncRNA metabolic process|spliceosomal snRNP assembly	cytosol|nucleus	ligand-dependent nuclear receptor transcription coactivator activity|protein binding	g.chr1:111983960C>T	BC016946	CCDS835.1	1p13.2	2013-01-09		2005-08-09	ENSG00000116455	ENSG00000116455		"WD repeat domain containing"	29652	protein-coding gene	gene with protein product		611734				11756452, 8619474	Standard	NM_024102		Approved	MEP50	uc001ebb.3	Q9BQA1	OTTHUMG00000011748	ENST00000235090.5:c.921G>A	1.37:g.111983960C>T						WDR77_ENST00000411751.2_Silent_p.P243P|WDR77_ENST00000497278.1_5'UTR	p.P307P	NM_024102.2	NP_077007.1	Q9BQA1	MEP50_HUMAN		Lung(183;0.0238)|Colorectal(144;0.0296)|all cancers(265;0.0488)|Epithelial(280;0.0732)|COAD - Colon adenocarcinoma(174;0.114)|LUSC - Lung squamous cell carcinoma(189;0.135)	10	1127	-		all_cancers(81;0.000902)|all_epithelial(167;0.00056)|all_lung(203;0.00277)|Lung NSC(277;0.0043)	307					B3KMW6|B4DP38|Q3LID2|Q53FU2|Q6JZZ5|Q96GK4|Q9BWY3	Silent	SNP	ENST00000235090.5	37	c.921G>A	CCDS835.1	.	.	.	.	.	.	.	.	.	.	C	12.17	1.859031	0.32884	.	.	ENSG00000116455	ENST00000449340	.	.	.	5.91	-9.66	0.00534	.	.	.	.	.	T	0.27629	0.0679	.	.	.	0.39616	D	0.96996	.	.	.	.	.	.	T	0.50250	-0.8850	4	.	.	.	-6.9995	6.6222	0.22810	0.074:0.1165:0.2361:0.5735	.	.	.	.	H	256	.	.	R	-	2	0	WDR77	111785483	0.000000	0.05858	0.897000	0.35233	0.995000	0.86356	-2.879000	0.00716	-1.061000	0.03185	-0.150000	0.13652	CGC		0.532	WDR77-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032465.1	NM_024102		18	26	0	0	0	1	0	18	26					T	111983960	C	T	111983960	2	4	435	1	0	0	0	0	0	0	0	1	17324	755	27	1		1	WDR77	1	111983960	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	18399	111983960	137266661	489	21414											
ADORA3	140	broad.mit.edu	37	chr1	112045933	112045933	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgaaaatttccatggtgatgTaggtaacattggccaatgac	13	12	10	6	0	0	3	0	3	0	0	1	3	1	3	2	3	1	2	2	3	5	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:112045933T>C	ENST00000241356.4	-	1	449	c.44A>G	c.(43-45)tAc>tGc	p.Y15C	ADORA3_ENST00000369717.4_Intron|ADORA3_ENST00000486342.1_5'Flank|ADORA3_ENST00000369716.4_Missense_Mutation_p.Y15C	NM_000677.3	NP_000668.1	P33765	AA3R_HUMAN	adenosine A3 receptor	15					activation of adenylate cyclase activity (GO:0007190)|histamine secretion by mast cell (GO:0002553)|inflammatory response (GO:0006954)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of inflammatory response (GO:0050729)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of mast cell degranulation (GO:0043306)|positive regulation of mucus secretion (GO:0070257)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|regulation of heart contraction (GO:0008016)|response to wounding (GO:0009611)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|mast cell granule (GO:0042629)|plasma membrane (GO:0005886)	G-protein coupled adenosine receptor activity (GO:0001609)			NS(1)|breast(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)|skin(1)	12		all_cancers(81;1.63e-06)|all_epithelial(167;5.01e-06)|all_lung(203;8.02e-05)|Lung NSC(277;0.000156)		all cancers(265;0.0185)|Colorectal(144;0.0186)|Lung(183;0.0238)|COAD - Colon adenocarcinoma(174;0.0644)|Epithelial(280;0.0872)|LUSC - Lung squamous cell carcinoma(189;0.134)	Adenosine(DB00640)|Aminophylline(DB01223)|Enprofylline(DB00824)	CATGGTGATGTAGGTAACATT	0.547																																						ENST00000241356.4																			0				NS(1)|breast(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)|skin(1)	12						c.(43-45)tAc>tGc		adenosine A3 receptor	Adenosine(DB00640)|Aminophylline(DB01223)						64	53	57					1																	112045933		2202	4300	6502	SO:0001583	missense	140				activation of adenylate cyclase activity|inflammatory response|regulation of heart contraction	integral to plasma membrane	adenosine receptor activity, G-protein coupled	g.chr1:112045933T>C	BC029831	CCDS838.1, CCDS839.1, CCDS41369.1	1p13.2	2014-09-17			ENSG00000121933	ENSG00000121933		"GPCR / Class A : Adenosine receptors", "Immunoglobulin superfamily / V-set domain containing"	268	protein-coding gene	gene with protein product		600445				7607699	Standard	NM_020683		Approved	AD026	uc001ebf.3	P33765	OTTHUMG00000011957	ENST00000241356.4:c.44A>G	1.37:g.112045933T>C	ENSP00000241356:p.Tyr15Cys					ADORA3_ENST00000369717.4_Intron|ADORA3_ENST00000369716.4_Missense_Mutation_p.Y15C	p.Y15C	NM_000677.3	NP_000668.1	P33765	AA3R_HUMAN		all cancers(265;0.0185)|Colorectal(144;0.0186)|Lung(183;0.0238)|COAD - Colon adenocarcinoma(174;0.0644)|Epithelial(280;0.0872)|LUSC - Lung squamous cell carcinoma(189;0.134)	1	449	-		all_cancers(81;1.63e-06)|all_epithelial(167;5.01e-06)|all_lung(203;8.02e-05)|Lung NSC(277;0.000156)	15					A2A3P4|Q6UWU0|Q9BYZ1	Missense_Mutation	SNP	ENST00000241356.4	37	c.44A>G	CCDS839.1	.	.	.	.	.	.	.	.	.	.	T	17.46	3.395741	0.62177	.	.	ENSG00000121933	ENST00000369716;ENST00000241356	T;T	0.37752	1.18;1.18	5.76	5.76	0.90799	.	0.000000	0.43579	D	0.000545	T	0.58148	0.2102	M	0.84683	2.71	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.91635	0.981;0.999	T	0.65903	-0.6055	10	0.66056	D	0.02	-26.6317	15.7381	0.77863	0.0:0.0:0.0:1.0	.	15;15	P33765;P33765-2	AA3R_HUMAN;.	C	15	ENSP00000358730:Y15C;ENSP00000241356:Y15C	ENSP00000241356:Y15C	Y	-	2	0	ADORA3	111847456	1.000000	0.71417	1.000000	0.80357	0.326000	0.28443	7.698000	0.84413	2.202000	0.70862	0.533000	0.62120	TAC		0.547	ADORA3-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033065.1	NM_000677, NM_020683		7	11	0	0	0	1	0	7	11					C	112045933	T	C	112045933	3	2	435	1	0	0	0	0	1	0	0	0	329	1638	57	4	1634	4	ADORA3	1	112045933	Missense_Mutation	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	61973	112045933	137204688	490	21415											
WNT2B	7482	broad.mit.edu	37	chr1	113058958	113058958	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tacggtgtccgttttgccaaGgccttcgtggatgccaagga	7	11	13	10	3	0	0	0	0	0	0	2	2	1	2	4	4	3	1	4	4	3	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:113058958G>T	ENST00000369684.4	+	3	1085	c.600G>T	c.(598-600)aaG>aaT	p.K200N	WNT2B_ENST00000256640.5_Missense_Mutation_p.K108N|WNT2B_ENST00000478360.1_3'UTR|RP4-671G15.2_ENST00000608357.1_RNA|WNT2B_ENST00000369686.5_Missense_Mutation_p.K181N	NM_024494.2	NP_078613.1	Q93097	WNT2B_HUMAN	wingless-type MMTV integration site family, member 2B	200					canonical Wnt signaling pathway (GO:0060070)|cell fate commitment (GO:0045165)|cellular response to starvation (GO:0009267)|chondrocyte differentiation (GO:0002062)|cornea development in camera-type eye (GO:0061303)|forebrain regionalization (GO:0021871)|hematopoietic stem cell proliferation (GO:0071425)|iris morphogenesis (GO:0061072)|lens development in camera-type eye (GO:0002088)|lung induction (GO:0060492)|male gonad development (GO:0008584)|mesenchymal-epithelial cell signaling (GO:0060638)|neuron differentiation (GO:0030182)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|Wnt signaling pathway (GO:0016055)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)			breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(4)|ovary(2)|skin(1)|stomach(1)	18	Lung SC(450;0.246)	all_cancers(81;7.31e-07)|all_epithelial(167;4.59e-06)|all_lung(203;2.56e-05)|Lung NSC(69;4.38e-05)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GTTTTGCCAAGGCCTTCGTGG	0.572																																						ENST00000369684.4																			0				breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(4)|ovary(2)|skin(1)|stomach(1)	18						c.(598-600)aaG>aaT		wingless-type MMTV integration site family, member 2B							154	135	142					1																	113058958		2203	4300	6503	SO:0001583	missense	7482				chondrocyte differentiation|cornea development in camera-type eye|dorsal/ventral axis specification|forebrain regionalization|hemopoietic stem cell proliferation|iris morphogenesis|lens development in camera-type eye|lung induction|male gonad development|neuron differentiation|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	frizzled-2 binding|signal transducer activity	g.chr1:113058958G>T	AB045116	CCDS847.1, CCDS846.1	1p13	2008-07-18			ENSG00000134245	ENSG00000134245		"Wingless-type MMTV integration sites"	12781	protein-coding gene	gene with protein product	"XWNT2, Xenopus, homolog of", "wingless-type MMTV integration site family, member 13"	601968		WNT13		8761309, 10944466	Standard	NM_024494		Approved	XWNT2	uc001ecb.3	Q93097	OTTHUMG00000011157	ENST00000369684.4:c.600G>T	1.37:g.113058958G>T	ENSP00000358698:p.Lys200Asn					WNT2B_ENST00000256640.5_Missense_Mutation_p.K108N|WNT2B_ENST00000369686.4_Missense_Mutation_p.K181N|WNT2B_ENST00000478360.1_3'UTR	p.K200N	NM_024494.2	NP_078613.1	Q93097	WNT2B_HUMAN		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	3	1085	+	Lung SC(450;0.246)	all_cancers(81;7.31e-07)|all_epithelial(167;4.59e-06)|all_lung(203;2.56e-05)|Lung NSC(69;4.38e-05)	200					O14903|Q5TEH9|Q5TEI2|Q9HDC1|Q9HDC2	Missense_Mutation	SNP	ENST00000369684.4	37	c.600G>T	CCDS847.1	.	.	.	.	.	.	.	.	.	.	G	19.37	3.814289	0.70912	.	.	ENSG00000134245	ENST00000256640;ENST00000369686;ENST00000369684	T;T;T	0.78003	-1.14;-1.14;-1.14	5.63	4.67	0.58626	.	0.000000	0.85682	D	0.000000	T	0.73806	0.3634	M	0.76727	2.345	0.58432	D	0.999999	P;P	0.47191	0.891;0.696	P;P	0.49192	0.602;0.535	T	0.78244	-0.2279	10	0.87932	D	0	.	8.9475	0.35767	0.2397:0.0:0.7603:0.0	.	200;181	Q93097;Q93097-2	WNT2B_HUMAN;.	N	108;181;200	ENSP00000256640:K108N;ENSP00000358700:K181N;ENSP00000358698:K200N	ENSP00000256640:K108N	K	+	3	2	WNT2B	112860481	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	0.954000	0.29175	1.257000	0.44085	0.561000	0.74099	AAG		0.572	WNT2B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030692.1	NM_004185		5	54	1	0	0.184627	1	0.185007	5	54					T	113058958	G	T	113058958	3	4	435	1	0	0	0	0	1	0	0	0	17384	991	35	5	743	5	WNT2B	1	113058958	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	1013025	113058958	136191663	491	21416											
MOV10	4343	broad.mit.edu	37	chr1	113239370	113239370	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cagaagcatggactgggataCtcactgctggagcggctgct	9	8	14	10	1	1	1	1	0	0	1	1	4	1	4	0	4	5	4	0	4	2	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:113239370C>A	ENST00000413052.2	+	14	2490	c.2100C>A	c.(2098-2100)taC>taA	p.Y700*	MOV10_ENST00000468624.1_3'UTR|MOV10_ENST00000357443.2_Nonsense_Mutation_p.Y700*|MOV10_ENST00000369644.1_Nonsense_Mutation_p.Y644*|RP11-426L16.3_ENST00000421943.1_RNA|MOV10_ENST00000369645.1_Nonsense_Mutation_p.Y700*	NM_001130079.1|NM_020963.3	NP_001123551.1|NP_066014.1	Q9HCE1	MOV10_HUMAN	Mov10 RISC complex RNA helicase	700					epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|mRNA cleavage involved in gene silencing by miRNA (GO:0035279)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|extracellular space (GO:0005615)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|prostate(1)|skin(3)|urinary_tract(3)	38	Lung SC(450;0.246)	all_cancers(81;3.31e-11)|all_epithelial(167;5.69e-10)|all_lung(203;3.73e-05)|Breast(1374;0.000525)|Lung NSC(69;0.000954)|Ovarian(761;0.0367)|Lung SC(238;0.114)		OV - Ovarian serous cystadenocarcinoma(397;3.99e-67)|all cancers(265;1e-62)|Epithelial(280;4.78e-61)|Lung(183;0.0234)|Colorectal(144;0.0686)|READ - Rectum adenocarcinoma(129;0.0929)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|BRCA - Breast invasive adenocarcinoma(282;0.24)		GACTGGGATACTCACTGCTGG	0.597																																						ENST00000369644.1																			0				breast(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|prostate(1)|skin(3)|urinary_tract(3)	38						c.(1930-1932)taC>taA		Mov10, Moloney leukemia virus 10, homolog (mouse)							63	50	54					1																	113239370		2203	4299	6502	SO:0001587	stop_gained	4343				mRNA cleavage involved in gene silencing by miRNA|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body	ATP binding|helicase activity|protein binding|RNA binding	g.chr1:113239370C>A	AL833353	CCDS853.1, CCDS65615.1	1p13.2	2014-07-02	2014-07-02		ENSG00000155363	ENSG00000155363			7200	protein-coding gene	gene with protein product	"functional spliceosome-associated protein 113"	610742	"Mov10 (Moloney leukemia virus 10, mouse) homolog", "Mov10, Moloney leukemia virus 10, homolog (mouse)"			12226669	Standard	NM_001286072		Approved	gb110, MGC2948, fSAP113	uc001eck.3	Q9HCE1	OTTHUMG00000011906	ENST00000413052.2:c.2100C>A	1.37:g.113239370C>A	ENSP00000399797:p.Tyr700*					MOV10_ENST00000413052.2_Nonsense_Mutation_p.Y700*|MOV10_ENST00000468624.1_3'UTR|MOV10_ENST00000357443.2_Nonsense_Mutation_p.Y700*|MOV10_ENST00000369645.1_Nonsense_Mutation_p.Y700*	p.Y644*			Q9HCE1	MOV10_HUMAN		OV - Ovarian serous cystadenocarcinoma(397;3.99e-67)|all cancers(265;1e-62)|Epithelial(280;4.78e-61)|Lung(183;0.0234)|Colorectal(144;0.0686)|READ - Rectum adenocarcinoma(129;0.0929)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|BRCA - Breast invasive adenocarcinoma(282;0.24)	15	2961	+	Lung SC(450;0.246)	all_cancers(81;3.31e-11)|all_epithelial(167;5.69e-10)|all_lung(203;3.73e-05)|Breast(1374;0.000525)|Lung NSC(69;0.000954)|Ovarian(761;0.0367)|Lung SC(238;0.114)	700					Q5JR03|Q8TEF0|Q9BSY3|Q9BUJ9	Nonsense_Mutation	SNP	ENST00000413052.2	37	c.1932C>A	CCDS853.1	.	.	.	.	.	.	.	.	.	.	C	48	14.188311	0.99783	.	.	ENSG00000155363	ENST00000413052;ENST00000369645;ENST00000369644;ENST00000357443;ENST00000369648	.	.	.	4.99	2.95	0.34219	.	0.748281	0.13438	N	0.387871	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.09590	T	0.72	-7.3397	6.3911	0.21587	0.0:0.6765:0.1535:0.17	.	.	.	.	X	700;700;644;700;638	.	ENSP00000350028:Y700X	Y	+	3	2	MOV10	113040893	0.789000	0.28775	0.971000	0.41717	0.898000	0.52572	1.347000	0.33975	1.418000	0.47098	0.561000	0.74099	TAC		0.597	MOV10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032906.1	NM_020963		5	8	1	0	0.000602214	1	0.000612743	5	8					A	113239370	C	A	113239370	4	1	435	1	0	0	0	0	0	1	0	0	9718	576	20	5	2150	5	MOV10	1	113239370	Nonsense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	180412	113239370	136011251	492	21417											
PPM1J	333926	broad.mit.edu	37	chr1	113255619	113255619	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cagctccgccccctgcatgcCcatcaaataggccccagtag	9	6	8	18	1	1	0	1	0	0	0	2	0	2	0	6	1	3	3	6	1	3	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:113255619C>T	ENST00000309276.6	-	3	651	c.476G>A	c.(475-477)gGg>gAg	p.G159E	RP11-426L16.10_ENST00000606505.1_5'Flank|PPM1J_ENST00000464951.1_5'UTR|RP11-426L16.10_ENST00000471038.2_5'Flank|PPM1J_ENST00000359994.4_5'Flank|RP11-426L16.9_ENST00000566195.1_RNA	NM_005167.5	NP_005158.5	Q5JR12	PPM1J_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1J	159	PP2C-like.				protein dephosphorylation (GO:0006470)		protein serine/threonine phosphatase activity (GO:0004722)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)	14	Lung SC(450;0.246)	all_cancers(81;1.44e-07)|all_epithelial(167;7.64e-07)|all_lung(203;2.16e-05)|Lung NSC(69;3.86e-05)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CCCTGCATGCCCATCAAATAG	0.537																																						ENST00000309276.6																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)	14						c.(475-477)gGg>gAg		protein phosphatase, Mg2+/Mn2+ dependent, 1J							64	68	67					1																	113255619		2203	4300	6503	SO:0001583	missense	333926							g.chr1:113255619C>T	AK093270	CCDS855.2	1p13.1	2012-04-17	2010-03-05		ENSG00000155367	ENSG00000155367	3.1.3.16	"Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"	20785	protein-coding gene	gene with protein product	"protein phosphatase 2C zeta"	609957	"protein phosphatase 1J (PP2C domain containing)"			12633878	Standard	NM_005167		Approved	FLJ35951, MGC19531, DKFZp434P1514, PP2Czeta, PPP2CZ	uc001ect.1	Q5JR12	OTTHUMG00000012019	ENST00000309276.6:c.476G>A	1.37:g.113255619C>T	ENSP00000308926:p.Gly159Glu					PPM1J_ENST00000464951.1_5'UTR	p.G159E	NM_005167.5	NP_005158.5	Q5JR12	PPM1J_HUMAN		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	3	651	-	Lung SC(450;0.246)	all_cancers(81;1.44e-07)|all_epithelial(167;7.64e-07)|all_lung(203;2.16e-05)|Lung NSC(69;3.86e-05)	159			PP2C-like.		B3KSB7|Q6DKJ7|Q96EZ7|Q9UF84	Missense_Mutation	SNP	ENST00000309276.6	37	c.476G>A	CCDS855.2	.	.	.	.	.	.	.	.	.	.	C	27.1	4.800814	0.90538	.	.	ENSG00000155367	ENST00000309276	T	0.73047	-0.71	5.84	5.84	0.93424	Protein phosphatase 2C-like (4);	0.000000	0.85682	D	0.000000	D	0.88265	0.6390	H	0.94925	3.6	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.90351	0.4366	10	0.72032	D	0.01	-23.8717	19.7229	0.96150	0.0:1.0:0.0:0.0	.	159	Q5JR12	PPM1J_HUMAN	E	159	ENSP00000308926:G159E	ENSP00000308926:G159E	G	-	2	0	PPM1J	113057142	1.000000	0.71417	1.000000	0.80357	0.814000	0.46013	7.466000	0.80914	2.768000	0.95171	0.561000	0.74099	GGG		0.537	PPM1J-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033251.1	NM_005167		17	30	0	0	0	1	0	17	30					T	113255619	C	T	113255619	3	4	435	1	0	0	0	0	1	0	0	0	12342	623	22	3	1073	3	PPM1J	1	113255619	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	16249	113255619	135995002	493	21418											
MAGI3	260425	broad.mit.edu	37	chr1	114165511	114165511	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cactgaaaaaaagcacaatgGgatttggttttactattatt	15	14	7	5	0	0	1	0	1	0	0	0	2	0	2	0	2	2	2	0	2	7	6			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:114165511G>A	ENST00000307546.9	+	9	1330	c.1255G>A	c.(1255-1257)Gga>Aga	p.G419R	MAGI3_ENST00000369617.4_Missense_Mutation_p.G444R|MAGI3_ENST00000369611.4_Missense_Mutation_p.G419R|MAGI3_ENST00000369615.1_Missense_Mutation_p.G419R	NM_001142782.1	NP_001136254.1	Q5TCQ9	MAGI3_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 3	444					apoptotic process (GO:0006915)|intracellular signal transduction (GO:0035556)|nucleotide phosphorylation (GO:0046939)|positive regulation of JUN kinase activity (GO:0043507)|viral process (GO:0016032)	membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	ATP binding (GO:0005524)|guanylate kinase activity (GO:0004385)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	41	Lung SC(450;0.184)	all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		AAGCACAATGGGATTTGGTTT	0.413																																						ENST00000369615.1																			0				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	41						c.(1255-1257)Gga>Aga		membrane associated guanylate kinase, WW and PDZ domain containing 3							104	98	100					1																	114165511		2203	4300	6503	SO:0001583	missense	260425				apoptosis|interspecies interaction between organisms|intracellular signal transduction	nucleus|tight junction	ATP binding|guanylate kinase activity|protein binding	g.chr1:114165511G>A	AF213259	CCDS860.1, CCDS44196.1	1p12-p11.2	2008-02-05			ENSG00000081026	ENSG00000081026			29647	protein-coding gene	gene with protein product		615943				10997877, 10748157	Standard	NM_152900		Approved	MAGI-3	uc001edk.3	Q5TCQ9	OTTHUMG00000011737	ENST00000307546.9:c.1255G>A	1.37:g.114165511G>A	ENSP00000304604:p.Gly419Arg					MAGI3_ENST00000369617.4_Missense_Mutation_p.G444R|MAGI3_ENST00000307546.9_Missense_Mutation_p.G419R|MAGI3_ENST00000369611.4_Missense_Mutation_p.G419R	p.G419R	NM_152900.2	NP_690864.2	Q5TCQ9	MAGI3_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	9	1317	+	Lung SC(450;0.184)	all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-05)	444					Q5TCQ8|Q5TCR0|Q9H2V6|Q9H5Y8|Q9HBC4|Q9HCD8	Missense_Mutation	SNP	ENST00000307546.9	37	c.1255G>A	CCDS44196.1	.	.	.	.	.	.	.	.	.	.	G	33	5.199595	0.94997	.	.	ENSG00000081026	ENST00000369617;ENST00000307546;ENST00000369615;ENST00000369611	T;T;T;T	0.58652	0.32;0.32;0.32;0.32	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	T	0.79667	0.4485	M	0.89840	3.065	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.82918	-0.0219	10	0.87932	D	0	-13.7927	19.9981	0.97395	0.0:0.0:1.0:0.0	.	419;419;444	Q5TCQ9-4;Q5TCQ9-3;Q5TCQ9-2	.;.;.	R	444;419;419;419	ENSP00000358630:G444R;ENSP00000304604:G419R;ENSP00000358628:G419R;ENSP00000358624:G419R	ENSP00000304604:G419R	G	+	1	0	MAGI3	113967034	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.476000	0.97823	2.729000	0.93468	0.655000	0.94253	GGA		0.413	MAGI3-004	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000032429.1	NM_152900		10	18	0	0	0	1	0	10	18					A	114165511	G	A	114165511	3	1	435	1	0	0	0	0	1	0	0	0	9192	1233	43	3	1289	3	MAGI3	1	114165511	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	909892	114165511	135085110	494	21419											
RSBN1	54665	broad.mit.edu	37	chr1	114310903	114310903	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gccgtactctgccagtcaaaCccctgaccgacatgatcagc	10	7	8	16	2	3	2	2	2	1	0	3	3	3	2	5	0	4	1	5	0	2	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:114310903C>A	ENST00000261441.5	-	5	1830	c.1767G>T	c.(1765-1767)ggG>ggT	p.G589G	RSBN1_ENST00000369581.2_5'Flank	NM_018364.3	NP_060834.2	Q5VWQ0	RSBN1_HUMAN	round spermatid basic protein 1	589						nucleus (GO:0005634)				breast(1)|endometrium(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(3)|urinary_tract(2)	29	Lung SC(450;0.184)	all_cancers(81;3.78e-08)|all_epithelial(167;5.56e-08)|all_lung(203;6.97e-06)|Lung NSC(69;1.18e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GCCAGTCAAACCCCTGACCGA	0.438																																						ENST00000261441.5																			0				breast(1)|endometrium(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(3)|urinary_tract(2)	29						c.(1765-1767)ggG>ggT		round spermatid basic protein 1							106	102	103					1																	114310903		2203	4300	6503	SO:0001819	synonymous_variant	54665					nucleus		g.chr1:114310903C>A	AK002082	CCDS862.1	1p13.1	2008-02-05			ENSG00000081019	ENSG00000081019			25642	protein-coding gene	gene with protein product		615858				12477932	Standard	NM_018364		Approved	FLJ11220, ROSBIN	uc001edq.3	Q5VWQ0	OTTHUMG00000011938	ENST00000261441.5:c.1767G>T	1.37:g.114310903C>A							p.G589G	NM_018364.3	NP_060834.2	Q5VWQ0	RSBN1_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	5	1830	-	Lung SC(450;0.184)	all_cancers(81;3.78e-08)|all_epithelial(167;5.56e-08)|all_lung(203;6.97e-06)|Lung NSC(69;1.18e-05)	589					A8K937|Q6AI21|Q8TC33|Q9HA80|Q9NUP6	Silent	SNP	ENST00000261441.5	37	c.1767G>T	CCDS862.1																																																																																				0.438	RSBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033022.2	NM_018364		29	29	1	0	2.12542e-12	1	2.29988e-12	29	29					A	114310903	C	A	114310903	2	1	435	1	0	0	0	0	0	0	0	1	13696	494	18	5		5	RSBN1	1	114310903	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	145392	114310903	134939718	495	21420											
RSBN1	54665	broad.mit.edu	37	chr1	114354570	114354570	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	agaggggcagcgacagcgggCccggcgggtgccagcgaagg	8	1	21	11	5	0	1	0	0	0	1	0	3	0	1	2	6	4	1	2	6	1	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:114354570C>T	ENST00000261441.5	-	1	528	c.465G>A	c.(463-465)ggG>ggA	p.G155G	RP5-1073O3.2_ENST00000418238.1_RNA|RP5-1073O3.2_ENST00000429398.1_RNA	NM_018364.3	NP_060834.2	Q5VWQ0	RSBN1_HUMAN	round spermatid basic protein 1	155	Pro-rich.					nucleus (GO:0005634)				breast(1)|endometrium(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(3)|urinary_tract(2)	29	Lung SC(450;0.184)	all_cancers(81;3.78e-08)|all_epithelial(167;5.56e-08)|all_lung(203;6.97e-06)|Lung NSC(69;1.18e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CGACAGCGGGCCCGGCGGGTG	0.716																																						ENST00000261441.5																			0				breast(1)|endometrium(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(3)|urinary_tract(2)	29						c.(463-465)ggG>ggA		round spermatid basic protein 1							12	21	18					1																	114354570		2184	4266	6450	SO:0001819	synonymous_variant	54665					nucleus		g.chr1:114354570C>T	AK002082	CCDS862.1	1p13.1	2008-02-05			ENSG00000081019	ENSG00000081019			25642	protein-coding gene	gene with protein product		615858				12477932	Standard	NM_018364		Approved	FLJ11220, ROSBIN	uc001edq.3	Q5VWQ0	OTTHUMG00000011938	ENST00000261441.5:c.465G>A	1.37:g.114354570C>T							p.G155G	NM_018364.3	NP_060834.2	Q5VWQ0	RSBN1_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	1	528	-	Lung SC(450;0.184)	all_cancers(81;3.78e-08)|all_epithelial(167;5.56e-08)|all_lung(203;6.97e-06)|Lung NSC(69;1.18e-05)	155			Pro-rich.		A8K937|Q6AI21|Q8TC33|Q9HA80|Q9NUP6	Silent	SNP	ENST00000261441.5	37	c.465G>A	CCDS862.1																																																																																				0.716	RSBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033022.2	NM_018364		4	1	0	0	0	1	0	4	1					T	114354570	C	T	114354570	2	4	435	1	0	0	0	0	0	0	0	1	13696	726	26	3		3	RSBN1	1	114354570	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	43667	114354570	134896051	496	21421											
PTPN22	26191	broad.mit.edu	37	chr1	114401162	114401162	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggttgtagataaaggaccctGggtggcaatataagccttgg	11	10	14	6	0	0	1	0	0	0	1	0	2	0	2	2	5	1	3	2	5	6	6			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:114401162G>A	ENST00000359785.5	-	4	442	c.307C>T	c.(307-309)Cag>Tag	p.Q103*	PTPN22_ENST00000534519.1_5'UTR|PTPN22_ENST00000525799.1_Nonsense_Mutation_p.Q103*|PTPN22_ENST00000528414.1_Nonsense_Mutation_p.Q103*|PTPN22_ENST00000538253.1_5'UTR|AP4B1-AS1_ENST00000419536.1_RNA|PTPN22_ENST00000460620.1_Nonsense_Mutation_p.Q103*|PTPN22_ENST00000420377.2_Nonsense_Mutation_p.Q103*	NM_001193431.1|NM_015967.5	NP_001180360.1|NP_057051	Q9Y2R2	PTN22_HUMAN	protein tyrosine phosphatase, non-receptor type 22 (lymphoid)	103	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				negative regulation of T cell activation (GO:0050868)|negative regulation of T cell receptor signaling pathway (GO:0050860)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphoanandamide dephosphorylation (GO:0035644)|protein dephosphorylation (GO:0006470)|regulation of B cell receptor signaling pathway (GO:0050855)|regulation of innate immune response (GO:0045088)|regulation of natural killer cell proliferation (GO:0032817)|T cell differentiation (GO:0030217)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	kinase binding (GO:0019900)|protein tyrosine phosphatase activity (GO:0004725)|SH3 domain binding (GO:0017124)			NS(1)|breast(1)|kidney(3)|large_intestine(4)|lung(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	21	Lung SC(450;0.184)	all_cancers(81;1.93e-08)|all_epithelial(167;4.37e-08)|all_lung(203;5.22e-06)|Lung NSC(69;8.94e-06)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		AAAGGACCCTGGGTGGCAATA	0.438																																						ENST00000359785.5																			0				NS(1)|breast(1)|kidney(3)|large_intestine(4)|lung(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	21						c.(307-309)Cag>Tag		protein tyrosine phosphatase, non-receptor type 22 (lymphoid)							46	46	46					1																	114401162		2203	4300	6503	SO:0001587	stop_gained	26191				negative regulation of T cell activation|negative regulation of T cell receptor signaling pathway|phosphoanandamide dephosphorylation|regulation of B cell receptor signaling pathway|regulation of natural killer cell proliferation|T cell differentiation	internal side of plasma membrane|nucleus|perinuclear region of cytoplasm	kinase binding|protein tyrosine phosphatase activity|SH3 domain binding	g.chr1:114401162G>A	AF001846	CCDS863.1, CCDS864.1, CCDS864.2	1p13.2	2011-06-09	2005-02-02		ENSG00000134242	ENSG00000134242		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"	9652	protein-coding gene	gene with protein product		600716	"protein tyrosine phosphatase, non-receptor type 8"	PTPN8		10068674, 1373816	Standard	NM_015967		Approved	Lyp, Lyp1, Lyp2	uc001eds.3	Q9Y2R2	OTTHUMG00000011936	ENST00000359785.5:c.307C>T	1.37:g.114401162G>A	ENSP00000352833:p.Gln103*					PTPN22_ENST00000538253.1_5'UTR|AP4B1-AS1_ENST00000419536.1_RNA|PTPN22_ENST00000534519.1_5'UTR|PTPN22_ENST00000528414.1_Nonsense_Mutation_p.Q103*|PTPN22_ENST00000525799.1_Nonsense_Mutation_p.Q103*|PTPN22_ENST00000420377.2_Nonsense_Mutation_p.Q103*|PTPN22_ENST00000460620.1_Nonsense_Mutation_p.Q103*	p.Q103*	NM_001193431.1|NM_015967.5	NP_001180360.1|NP_057051.3	Q9Y2R2	PTN22_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	4	442	-	Lung SC(450;0.184)	all_cancers(81;1.93e-08)|all_epithelial(167;4.37e-08)|all_lung(203;5.22e-06)|Lung NSC(69;8.94e-06)	103			Tyrosine-protein phosphatase.		A0N0K6|B1ALC8|D4NZ71|E9PLD8|E9PPI1|O95063|O95064|Q6IPX8|Q8WVM1	Nonsense_Mutation	SNP	ENST00000359785.5	37	c.307C>T	CCDS863.1	.	.	.	.	.	.	.	.	.	.	G	32	5.124953	0.94429	.	.	ENSG00000134242	ENST00000460620;ENST00000359785;ENST00000528414;ENST00000420377;ENST00000525799;ENST00000354605	.	.	.	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	19.156	0.93510	0.0:0.0:1.0:0.0	.	.	.	.	X	103	.	ENSP00000346621:Q103X	Q	-	1	0	PTPN22	114202685	1.000000	0.71417	0.999000	0.59377	0.868000	0.49771	9.213000	0.95133	2.700000	0.92200	0.467000	0.42956	CAG		0.438	PTPN22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033015.1	NM_015967		5	12	0	0	0	1	0	5	12					A	114401162	G	A	114401162	4	1	435	1	0	0	0	0	0	1	0	0	12787	1357	47	3	2211	3	PTPN22	1	114401162	Nonsense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	46592	114401162	134849459	497	21422											
HIPK1	204851	broad.mit.edu	37	chr1	114512767	114512767	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcacccgcactatcattgtGcctccactgaaaactcagct	10	9	7	15	1	2	1	2	1	0	0	3	1	3	1	3	1	3	3	3	1	3	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:114512767G>A	ENST00000369558.1	+	14	3193	c.2961G>A	c.(2959-2961)gtG>gtA	p.V987V	HIPK1_ENST00000369553.1_Silent_p.V593V|HIPK1_ENST00000340480.4_Silent_p.V613V|HIPK1_ENST00000369561.4_Silent_p.V953V|HIPK1_ENST00000369554.2_Silent_p.V942V|HIPK1_ENST00000369559.4_Silent_p.V987V|HIPK1_ENST00000426820.2_Silent_p.V987V|HIPK1_ENST00000406344.1_Silent_p.V593V|HIPK1_ENST00000369555.2_Silent_p.V942V			Q86Z02	HIPK1_HUMAN	homeodomain interacting protein kinase 1	987	Interaction with TP53.|Required for localization to nuclear speckles. {ECO:0000250}.				anterior/posterior pattern specification (GO:0009952)|definitive hemopoiesis (GO:0060216)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|endothelial cell apoptotic process (GO:0072577)|extrinsic apoptotic signaling pathway (GO:0097191)|eye development (GO:0001654)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|iris morphogenesis (GO:0061072)|lens induction in camera-type eye (GO:0060235)|neuron differentiation (GO:0030182)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell proliferation (GO:0008284)|regulation of transcription, DNA-templated (GO:0006355)|regulation of tumor necrosis factor-mediated signaling pathway (GO:0010803)|retina layer formation (GO:0010842)|smoothened signaling pathway (GO:0007224)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|PML body (GO:0016605)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|prostate(2)	39	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CTATCATTGTGCCTCCACTGA	0.527																																						ENST00000369558.1																			0				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|prostate(2)	39						c.(2959-2961)gtG>gtA		homeodomain interacting protein kinase 1							116	103	107					1																	114512767		2203	4300	6503	SO:0001819	synonymous_variant	204851				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr1:114512767G>A	AB089957	CCDS867.1, CCDS868.1, CCDS869.1, CCDS41370.1	1p13.1	2008-02-05			ENSG00000163349	ENSG00000163349			19006	protein-coding gene	gene with protein product		608003					Standard	NM_198268		Approved	KIAA0630, Myak, MGC26642, Nbak2, MGC33446, MGC33548	uc001eem.3	Q86Z02	OTTHUMG00000011983	ENST00000369558.1:c.2961G>A	1.37:g.114512767G>A						HIPK1_ENST00000406344.1_Silent_p.V593V|HIPK1_ENST00000369555.2_Silent_p.V942V|HIPK1_ENST00000340480.4_Silent_p.V613V|HIPK1_ENST00000369559.4_Silent_p.V987V|HIPK1_ENST00000369553.1_Silent_p.V593V|HIPK1_ENST00000426820.2_Silent_p.V987V|HIPK1_ENST00000369561.4_Silent_p.V953V|HIPK1_ENST00000369554.2_Silent_p.V942V	p.V987V			Q86Z02	HIPK1_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	14	3193	+	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)	987			Interaction with TP53.|Required for localization to nuclear speckles (By similarity).		A6NJ34|O75125|Q5SQL2|Q5SQL4|Q5SQL5|Q8IYD7|Q8NDN5|Q8NEB6|Q8TBZ1	Silent	SNP	ENST00000369558.1	37	c.2961G>A	CCDS867.1	.	.	.	.	.	.	.	.	.	.	G	9.855	1.194645	0.22037	.	.	ENSG00000163349	ENST00000361587	.	.	.	5.77	3.89	0.44902	.	.	.	.	.	T	0.41858	0.1177	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.35895	-0.9770	4	.	.	.	.	7.1371	0.25535	0.152:0.1401:0.7079:0.0	.	.	.	.	T	268	.	.	A	+	1	0	HIPK1	114314290	0.997000	0.39634	1.000000	0.80357	0.994000	0.84299	0.396000	0.20867	0.762000	0.33152	0.561000	0.74099	GCC		0.527	HIPK1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000033127.1	NM_198268		21	79	0	0	0	1	0	21	79					A	114512767	G	A	114512767	2	1	435	1	0	0	0	0	0	0	0	1	7116	1306	46	3		3	HIPK1	1	114512767	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	111605	114512767	134737854	498	21423											
SYT6	148281	broad.mit.edu	37	chr1	114680411	114680411	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcagagcttccacaaaagtcCttggcagggaggtcaaaagc	13	7	11	10	0	2	1	2	0	0	1	4	2	4	2	2	3	2	2	2	3	4	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:114680411C>A	ENST00000610222.1	-	3	923	c.777G>T	c.(775-777)aaG>aaT	p.K259N	SYT6_ENST00000393296.1_Missense_Mutation_p.K259N|SYT6_ENST00000369547.1_Missense_Mutation_p.K174N|SYT6_ENST00000607941.1_Missense_Mutation_p.K174N|SYT6_ENST00000609117.1_Missense_Mutation_p.K174N			Q5T7P8	SYT6_HUMAN	synaptotagmin VI	259	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.				acrosomal vesicle exocytosis (GO:0060478)	cell junction (GO:0030054)|cytosol (GO:0005829)|extrinsic component of membrane (GO:0019898)|integral component of membrane (GO:0016021)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	clathrin binding (GO:0030276)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|syntaxin binding (GO:0019905)|transporter activity (GO:0005215)			central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	37	Lung SC(450;0.184)	all_cancers(81;4.41e-08)|all_epithelial(167;5.18e-08)|all_lung(203;1.58e-05)|Lung NSC(69;2.82e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CACAAAAGTCCTTGGCAGGGA	0.552																																						ENST00000393296.1																			0				central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	37						c.(775-777)aaG>aaT		synaptotagmin VI							146	133	137					1																	114680411		2203	4300	6503	SO:0001583	missense	148281				acrosomal vesicle exocytosis	cell junction|cytosol|integral to membrane|perinuclear endoplasmic reticulum|peripheral to membrane of membrane fraction|synaptic vesicle membrane	clathrin binding|metal ion binding|protein homodimerization activity|syntaxin binding|transporter activity	g.chr1:114680411C>A		CCDS871.1	1p13.1	2013-01-21			ENSG00000134207	ENSG00000134207		"Synaptotagmins"	18638	protein-coding gene	gene with protein product		607718				11543631	Standard	NM_205848		Approved		uc021orz.1	Q5T7P8	OTTHUMG00000011755	ENST00000610222.1:c.777G>T	1.37:g.114680411C>A	ENSP00000476396:p.Lys259Asn					SYT6_ENST00000369547.1_Missense_Mutation_p.K174N	p.K259N			Q5T7P8	SYT6_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	3	854	-	Lung SC(450;0.184)	all_cancers(81;4.41e-08)|all_epithelial(167;5.18e-08)|all_lung(203;1.58e-05)|Lung NSC(69;2.82e-05)	259			C2 1.		B1AMB8|B3KPK1	Missense_Mutation	SNP	ENST00000610222.1	37	c.777G>T		.	.	.	.	.	.	.	.	.	.	C	19.02	3.745717	0.69418	.	.	ENSG00000134207	ENST00000369547;ENST00000393296;ENST00000369546;ENST00000369545	T;T;T;T	0.72051	-0.62;-0.62;-0.62;-0.62	5.46	3.59	0.41128	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);Synaptotagmin (1);	0.000000	0.85682	D	0.000000	T	0.70710	0.3255	L	0.53729	1.69	0.80722	D	1	D	0.71674	0.998	D	0.66351	0.943	T	0.74553	-0.3627	10	0.72032	D	0.01	.	9.8969	0.41324	0.0:0.7747:0.0:0.2253	.	259	Q5T7P8	SYT6_HUMAN	N	174;259;174;259	ENSP00000358560:K174N;ENSP00000376974:K259N;ENSP00000358559:K174N;ENSP00000358558:K259N	ENSP00000358558:K259N	K	-	3	2	SYT6	114481934	1.000000	0.71417	1.000000	0.80357	0.924000	0.55760	2.178000	0.42519	1.313000	0.45069	-0.150000	0.13652	AAG		0.552	SYT6-004	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000314819.2	NM_205848		23	50	1	0	7.87624e-14	1	8.57347e-14	23	50					A	114680411	C	A	114680411	3	1	435	1	0	0	0	0	1	0	0	0	15475	680	24	5	775	5	SYT6	1	114680411	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	167644	114680411	134570210	499	21424											
TRIM33	51592	broad.mit.edu	37	chr1	114945490	114945490	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccaatatctctacaaaatgtGcatatccagtccccactaga	14	10	4	13	0	1	1	0	0	1	1	4	1	3	1	4	0	2	1	4	0	7	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:114945490G>A	ENST00000358465.2	-	16	2867	c.2784C>T	c.(2782-2784)tgC>tgT	p.C928C	TRIM33_ENST00000476908.1_5'Flank|TRIM33_ENST00000369543.2_Silent_p.C928C|TRIM33_ENST00000450349.2_Silent_p.C560C	NM_015906.3	NP_056990.3	Q9UPN9	TRI33_HUMAN	tripartite motif containing 33	928					gene expression (GO:0010467)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|protein ubiquitination (GO:0016567)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	co-SMAD binding (GO:0070410)|DNA binding (GO:0003677)|ligase activity (GO:0016874)|R-SMAD binding (GO:0070412)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	48	all_epithelial(7;0.000132)|all_lung(7;0.00106)|Lung SC(450;0.184)	all_cancers(81;3.03e-08)|all_epithelial(167;3.24e-08)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		TACAAAATGTGCATATCCAGT	0.448			T	RET	papillary thyroid																																	ENST00000358465.2				Dom	yes		1	1p13	51592	T	" tripartite motif-containing 33 (PTC7,TIF1G)"			E	RET		papillary thyroid		0				breast(2)|central_nervous_system(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	48						c.(2782-2784)tgC>tgT		tripartite motif containing 33							83	81	82					1																	114945490		2203	4300	6503	SO:0001819	synonymous_variant	51592				negative regulation of BMP signaling pathway|negative regulation of transcription, DNA-dependent|protein ubiquitination|regulation of transforming growth factor beta receptor signaling pathway|transcription, DNA-dependent	nucleus	co-SMAD binding|DNA binding|ligase activity|R-SMAD binding|zinc ion binding	g.chr1:114945490G>A	AF220136	CCDS872.1, CCDS873.1	1p13.1	2014-02-17	2011-01-25		ENSG00000197323	ENSG00000197323		"Tripartite motif containing / Tripartite motif containing", "Zinc fingers, PHD-type", "RING-type (C3HC4) zinc fingers"	16290	protein-coding gene	gene with protein product	"transcriptional intermediary factor 1 gamma", "ret-fused gene 7"	605769	"tripartite motif-containing 33"			11331580, 10022127	Standard	XM_005270936		Approved	TIF1GAMMA, FLJ11429, KIAA1113, TIFGAMMA, RFG7, TF1G, TIF1G, PTC7	uc001eew.3	Q9UPN9	OTTHUMG00000011891	ENST00000358465.2:c.2784C>T	1.37:g.114945490G>A						TRIM33_ENST00000369543.2_Silent_p.C928C|TRIM33_ENST00000450349.2_Silent_p.C560C	p.C928C	NM_015906.3	NP_056990.3	Q9UPN9	TRI33_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	16	2867	-	all_epithelial(7;0.000132)|all_lung(7;0.00106)|Lung SC(450;0.184)	all_cancers(81;3.03e-08)|all_epithelial(167;3.24e-08)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)	928					O95855|Q5TG72|Q5TG73|Q5TG74|Q9C017|Q9UJ79	Silent	SNP	ENST00000358465.2	37	c.2784C>T	CCDS872.1	.	.	.	.	.	.	.	.	.	.	G	8.251	0.808958	0.16537	.	.	ENSG00000197323	ENST00000448034	.	.	.	5.27	3.4	0.38934	.	.	.	.	.	T	0.41096	0.1144	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.31696	-0.9934	4	.	.	.	-5.9436	6.8567	0.24044	0.3959:0.0:0.6041:0.0	.	.	.	.	V	689	.	.	A	-	2	0	TRIM33	114747013	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.609000	0.46317	0.714000	0.32081	0.650000	0.86243	GCA		0.448	TRIM33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032854.1	NM_015906		19	32	0	0	0	1	0	19	32					A	114945490	G	A	114945490	2	1	435	1	0	0	0	0	0	0	0	1	16504	1311	46	3		3	TRIM33	1	114945490	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	265079	114945490	134305131	500	21425											
TRIM33	51592	broad.mit.edu	37	chr1	114948128	114948128	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctcctccgttttggcagacaGcacaccagtcttcatttggg	7	12	9	13	1	2	1	1	0	1	1	4	1	4	1	3	2	1	3	3	2	0	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:114948128G>A	ENST00000358465.2	-	15	2755	c.2672C>T	c.(2671-2673)gCt>gTt	p.A891V	TRIM33_ENST00000476908.1_5'UTR|TRIM33_ENST00000369543.2_Missense_Mutation_p.A891V|TRIM33_ENST00000450349.2_Missense_Mutation_p.A523V	NM_015906.3	NP_056990.3	Q9UPN9	TRI33_HUMAN	tripartite motif containing 33	891					gene expression (GO:0010467)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|protein ubiquitination (GO:0016567)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	co-SMAD binding (GO:0070410)|DNA binding (GO:0003677)|ligase activity (GO:0016874)|R-SMAD binding (GO:0070412)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	48	all_epithelial(7;0.000132)|all_lung(7;0.00106)|Lung SC(450;0.184)	all_cancers(81;3.03e-08)|all_epithelial(167;3.24e-08)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		TTGGCAGACAGCACACCAGTC	0.453			T	RET	papillary thyroid																																	ENST00000358465.2				Dom	yes		1	1p13	51592	T	" tripartite motif-containing 33 (PTC7,TIF1G)"			E	RET		papillary thyroid		0				breast(2)|central_nervous_system(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	48						c.(2671-2673)gCt>gTt		tripartite motif containing 33							279	244	255					1																	114948128		2203	4300	6503	SO:0001583	missense	51592				negative regulation of BMP signaling pathway|negative regulation of transcription, DNA-dependent|protein ubiquitination|regulation of transforming growth factor beta receptor signaling pathway|transcription, DNA-dependent	nucleus	co-SMAD binding|DNA binding|ligase activity|R-SMAD binding|zinc ion binding	g.chr1:114948128G>A	AF220136	CCDS872.1, CCDS873.1	1p13.1	2014-02-17	2011-01-25		ENSG00000197323	ENSG00000197323		"Tripartite motif containing / Tripartite motif containing", "Zinc fingers, PHD-type", "RING-type (C3HC4) zinc fingers"	16290	protein-coding gene	gene with protein product	"transcriptional intermediary factor 1 gamma", "ret-fused gene 7"	605769	"tripartite motif-containing 33"			11331580, 10022127	Standard	XM_005270936		Approved	TIF1GAMMA, FLJ11429, KIAA1113, TIFGAMMA, RFG7, TF1G, TIF1G, PTC7	uc001eew.3	Q9UPN9	OTTHUMG00000011891	ENST00000358465.2:c.2672C>T	1.37:g.114948128G>A	ENSP00000351250:p.Ala891Val					TRIM33_ENST00000476908.1_5'UTR|TRIM33_ENST00000369543.2_Missense_Mutation_p.A891V|TRIM33_ENST00000450349.2_Missense_Mutation_p.A523V	p.A891V	NM_015906.3	NP_056990.3	Q9UPN9	TRI33_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	15	2755	-	all_epithelial(7;0.000132)|all_lung(7;0.00106)|Lung SC(450;0.184)	all_cancers(81;3.03e-08)|all_epithelial(167;3.24e-08)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)	891					O95855|Q5TG72|Q5TG73|Q5TG74|Q9C017|Q9UJ79	Missense_Mutation	SNP	ENST00000358465.2	37	c.2672C>T	CCDS872.1	.	.	.	.	.	.	.	.	.	.	G	27.4	4.825737	0.90955	.	.	ENSG00000197323	ENST00000358465;ENST00000369543;ENST00000450349	D;D;D	0.84800	-1.9;-1.9;-1.9	5.32	5.32	0.75619	Zinc finger, PHD-finger (2);Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, PHD-type, conserved site (1);Zinc finger, PHD-type (1);Zinc finger, FYVE/PHD-type (1);	0.000000	0.85682	D	0.000000	D	0.88819	0.6540	L	0.43757	1.38	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;0.998;1.0;0.999	D;D;D;D;D	0.97110	1.0;0.999;0.941;0.995;0.97	D	0.89655	0.3872	10	0.87932	D	0	-10.8646	19.3509	0.94384	0.0:0.0:1.0:0.0	.	523;523;86;891;891	E7EN20;B3KN30;Q9HAL0;Q9UPN9-2;Q9UPN9	.;.;.;.;TRI33_HUMAN	V	891;891;523	ENSP00000351250:A891V;ENSP00000358556:A891V;ENSP00000412077:A523V	ENSP00000351250:A891V	A	-	2	0	TRIM33	114749651	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.790000	0.85794	2.644000	0.89710	0.491000	0.48974	GCT		0.453	TRIM33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032854.1	NM_015906		60	73	0	0	0	1	0	60	73					A	114948128	G	A	114948128	3	1	435	1	0	0	0	0	1	0	0	0	16504	971	34	3	735	3	TRIM33	1	114948128	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	2638	114948128	134302493	501	21426											
TRIM33	51592	broad.mit.edu	37	chr1	114968110	114968110	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggggctgcttgtctaggatgCtgttgtgttgttgttgttgt	2	19	16	4	0	1	0	0	0	1	0	1	1	1	1	0	3	2	8	0	3	1	7			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:114968110C>T	ENST00000358465.2	-	9	1739	c.1656G>A	c.(1654-1656)caG>caA	p.Q552Q	TRIM33_ENST00000450349.2_Silent_p.Q160Q|TRIM33_ENST00000369543.2_Silent_p.Q552Q	NM_015906.3	NP_056990.3	Q9UPN9	TRI33_HUMAN	tripartite motif containing 33	552					gene expression (GO:0010467)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|protein ubiquitination (GO:0016567)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	co-SMAD binding (GO:0070410)|DNA binding (GO:0003677)|ligase activity (GO:0016874)|R-SMAD binding (GO:0070412)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	48	all_epithelial(7;0.000132)|all_lung(7;0.00106)|Lung SC(450;0.184)	all_cancers(81;3.03e-08)|all_epithelial(167;3.24e-08)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		GTCTAGGATGCTGTTGTGTTG	0.413			T	RET	papillary thyroid																																	ENST00000358465.2				Dom	yes		1	1p13	51592	T	" tripartite motif-containing 33 (PTC7,TIF1G)"			E	RET		papillary thyroid		0				breast(2)|central_nervous_system(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	48						c.(1654-1656)caG>caA		tripartite motif containing 33							316	305	309					1																	114968110		2203	4300	6503	SO:0001819	synonymous_variant	51592				negative regulation of BMP signaling pathway|negative regulation of transcription, DNA-dependent|protein ubiquitination|regulation of transforming growth factor beta receptor signaling pathway|transcription, DNA-dependent	nucleus	co-SMAD binding|DNA binding|ligase activity|R-SMAD binding|zinc ion binding	g.chr1:114968110C>T	AF220136	CCDS872.1, CCDS873.1	1p13.1	2014-02-17	2011-01-25		ENSG00000197323	ENSG00000197323		"Tripartite motif containing / Tripartite motif containing", "Zinc fingers, PHD-type", "RING-type (C3HC4) zinc fingers"	16290	protein-coding gene	gene with protein product	"transcriptional intermediary factor 1 gamma", "ret-fused gene 7"	605769	"tripartite motif-containing 33"			11331580, 10022127	Standard	XM_005270936		Approved	TIF1GAMMA, FLJ11429, KIAA1113, TIFGAMMA, RFG7, TF1G, TIF1G, PTC7	uc001eew.3	Q9UPN9	OTTHUMG00000011891	ENST00000358465.2:c.1656G>A	1.37:g.114968110C>T						TRIM33_ENST00000369543.2_Silent_p.Q552Q|TRIM33_ENST00000450349.2_Silent_p.Q160Q	p.Q552Q	NM_015906.3	NP_056990.3	Q9UPN9	TRI33_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	9	1739	-	all_epithelial(7;0.000132)|all_lung(7;0.00106)|Lung SC(450;0.184)	all_cancers(81;3.03e-08)|all_epithelial(167;3.24e-08)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)	552					O95855|Q5TG72|Q5TG73|Q5TG74|Q9C017|Q9UJ79	Silent	SNP	ENST00000358465.2	37	c.1656G>A	CCDS872.1	.	.	.	.	.	.	.	.	.	.	C	7.467	0.645848	0.14451	.	.	ENSG00000197323	ENST00000448034	.	.	.	4.34	3.42	0.39159	.	.	.	.	.	T	0.47432	0.1445	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.45789	-0.9237	4	.	.	.	-2.6096	10.271	0.43483	0.0:0.9022:0.0:0.0978	.	.	.	.	N	289	.	.	S	-	2	0	TRIM33	114769633	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	3.071000	0.50041	1.172000	0.42781	0.650000	0.86243	AGC		0.413	TRIM33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032854.1	NM_015906		21	159	0	0	0	1	0	21	159					T	114968110	C	T	114968110	2	4	435	1	0	0	0	0	0	0	0	1	16504	796	28	3		3	TRIM33	1	114968110	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	19982	114968110	134282511	502	21427											
AMPD1	270	broad.mit.edu	37	chr1	115217476	115217476	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agtgaggtcggaacagaaacGtattcatgcctcgttccctg	10	10	11	10	3	1	2	1	1	0	1	4	3	2	3	2	2	3	2	2	2	3	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:115217476G>A	ENST00000520113.2	-	13	1811	c.1796C>T	c.(1795-1797)aCg>aTg	p.T599M	AMPD1_ENST00000353928.6_Missense_Mutation_p.T566M|AMPD1_ENST00000369538.3_Missense_Mutation_p.T595M			P23109	AMPD1_HUMAN	adenosine monophosphate deaminase 1	599					IMP salvage (GO:0032264)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine-containing compound salvage (GO:0043101)|response to organic substance (GO:0010033)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	AMP deaminase activity (GO:0003876)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(3)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	45	all_epithelial(7;7.83e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	Adenosine monophosphate(DB00131)	GAACAGAAACGTATTCATGCC	0.438																																						ENST00000369538.3																			0				NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(3)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	45						c.(1783-1785)aCg>aTg		adenosine monophosphate deaminase 1	Adenosine monophosphate(DB00131)						108	99	102					1																	115217476		2203	4300	6503	SO:0001583	missense	270				purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding	g.chr1:115217476G>A	M60092	CCDS876.1, CCDS876.2, CCDS53349.1	1p13	2010-02-10	2010-02-10		ENSG00000116748	ENSG00000116748	3.5.4.6		468	protein-coding gene	gene with protein product	"AMPD isoform M", "skeletal muscle AMPD"	102770	"adenosine monophosphate deaminase 1 (isoform M)"			1400401	Standard	NM_001172626		Approved	MAD, MADA	uc001efe.2	P23109	OTTHUMG00000011892	ENST00000520113.2:c.1796C>T	1.37:g.115217476G>A	ENSP00000430075:p.Thr599Met					AMPD1_ENST00000520113.2_Missense_Mutation_p.T599M|AMPD1_ENST00000353928.6_Missense_Mutation_p.T566M	p.T595M	NM_001172626.1	NP_001166097.1	P23109	AMPD1_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	12	1831	-	all_epithelial(7;7.83e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)	566					A8K5N4|B2RAM1|F2Z3B3|Q5TF00|Q5TF02	Missense_Mutation	SNP	ENST00000520113.2	37	c.1784C>T	CCDS876.2	.	.	.	.	.	.	.	.	.	.	G	17.51	3.407123	0.62399	.	.	ENSG00000116748	ENST00000520113;ENST00000369538;ENST00000353928	D;D;D	0.85484	-1.99;-1.99;-1.99	5.99	5.99	0.97316	Adenosine/AMP deaminase (1);	0.000000	0.85682	D	0.000000	D	0.93880	0.8042	M	0.89715	3.055	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.93955	0.7235	10	0.87932	D	0	-17.8606	20.4777	0.99188	0.0:0.0:1.0:0.0	.	595;566	Q5TF02;P23109	.;AMPD1_HUMAN	M	599;595;566	ENSP00000430075:T599M;ENSP00000358551:T595M;ENSP00000316520:T566M	ENSP00000316520:T566M	T	-	2	0	AMPD1	115018999	1.000000	0.71417	0.565000	0.28409	0.004000	0.04260	9.752000	0.98900	2.840000	0.97914	0.655000	0.94253	ACG		0.438	AMPD1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000032860.4			12	26	0	0	0	1	0	12	26					A	115217476	G	A	115217476	3	1	435	1	0	0	0	0	1	0	0	0	585	1145	40	1	562	1	AMPD1	1	115217476	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	249366	115217476	134033145	503	21428											
AMPD1	270	broad.mit.edu	37	chr1	115231344	115231344	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acactttttcagcaaagttgCgcattgcatcatcaatttct	11	15	5	10	1	4	0	3	0	1	0	4	0	4	0	0	0	3	4	0	0	2	5	rs140601541		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:115231344C>T	ENST00000520113.2	-	3	167	c.152G>A	c.(151-153)cGc>cAc	p.R51H	AMPD1_ENST00000353928.6_Missense_Mutation_p.R18H|AMPD1_ENST00000369538.3_Missense_Mutation_p.R47H			P23109	AMPD1_HUMAN	adenosine monophosphate deaminase 1	51					IMP salvage (GO:0032264)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine-containing compound salvage (GO:0043101)|response to organic substance (GO:0010033)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	AMP deaminase activity (GO:0003876)|metal ion binding (GO:0046872)	p.R18H(1)		NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(3)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	45	all_epithelial(7;7.83e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	Adenosine monophosphate(DB00131)	AGCAAAGTTGCGCATTGCATC	0.418													C|||	1	0.000199681	0	0	5008	,	,		22315	0.001		0	False		,,,				2504	0					ENST00000369538.3																			1	Substitution - Missense(1)	p.R18H(1)	large_intestine(1)	NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(3)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	45						c.(139-141)cGc>cAc		adenosine monophosphate deaminase 1	Adenosine monophosphate(DB00131)	C	HIS/ARG,HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	130	128	129		152,140	5.5	0.4	1	dbSNP_134	129	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	AMPD1	NM_000036.2,NM_001172626.1	29,29	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	probably-damaging,probably-damaging	51/781,47/777	115231344	2,13004	2203	4300	6503	SO:0001583	missense	270				purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding	g.chr1:115231344C>T	M60092	CCDS876.1, CCDS876.2, CCDS53349.1	1p13	2010-02-10	2010-02-10		ENSG00000116748	ENSG00000116748	3.5.4.6		468	protein-coding gene	gene with protein product	"AMPD isoform M", "skeletal muscle AMPD"	102770	"adenosine monophosphate deaminase 1 (isoform M)"			1400401	Standard	NM_001172626		Approved	MAD, MADA	uc001efe.2	P23109	OTTHUMG00000011892	ENST00000520113.2:c.152G>A	1.37:g.115231344C>T	ENSP00000430075:p.Arg51His					AMPD1_ENST00000520113.2_Missense_Mutation_p.R51H|AMPD1_ENST00000353928.6_Missense_Mutation_p.R18H	p.R47H	NM_001172626.1	NP_001166097.1	P23109	AMPD1_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	2	187	-	all_epithelial(7;7.83e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)	18					A8K5N4|B2RAM1|F2Z3B3|Q5TF00|Q5TF02	Missense_Mutation	SNP	ENST00000520113.2	37	c.140G>A	CCDS876.2	.	.	.	.	.	.	.	.	.	.	C	18.23	3.578716	0.65878	2.27E-4	1.16E-4	ENSG00000116748	ENST00000520113;ENST00000369538;ENST00000353928	T;T;T	0.55760	0.5;0.5;0.5	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	T	0.60130	0.2245	L	0.42245	1.32	0.80722	D	1	D;D	0.89917	1.0;0.999	P;D	0.65140	0.908;0.932	T	0.62431	-0.6856	10	0.87932	D	0	-14.4529	19.7739	0.96383	0.0:1.0:0.0:0.0	.	47;18	Q5TF02;P23109	.;AMPD1_HUMAN	H	51;47;18	ENSP00000430075:R51H;ENSP00000358551:R47H;ENSP00000316520:R18H	ENSP00000316520:R18H	R	-	2	0	AMPD1	115032867	1.000000	0.71417	0.400000	0.26346	0.139000	0.21198	7.303000	0.78871	2.744000	0.94065	0.655000	0.94253	CGC		0.418	AMPD1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000032860.4			25	63	0	0	0	1	0	25	63					T	115231344	C	T	115231344	3	4	435	1	0	0	0	0	1	0	0	0	585	768	27	1	2246	1	AMPD1	1	115231344	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	13868	115231344	134019277	504	21429											
SLC22A15	55356	broad.mit.edu	37	chr1	116569517	116569517	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcttttccctgaattaggatCgattggcggcctgttctttg	5	17	10	9	2	2	1	0	1	2	0	4	3	3	2	2	3	0	1	2	3	2	6			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:116569517C>T	ENST00000369503.4	+	5	732	c.602C>T	c.(601-603)tCg>tTg	p.S201L	SLC22A15_ENST00000369502.1_Missense_Mutation_p.S201L	NM_018420.2	NP_060890.2	Q8IZD6	S22AF_HUMAN	solute carrier family 22, member 15	201					ion transport (GO:0006811)	integral component of membrane (GO:0016021)	transmembrane transporter activity (GO:0022857)	p.S201L(2)		endometrium(1)|large_intestine(2)|lung(12)|prostate(1)|urinary_tract(1)	17	Lung SC(450;0.184)	all_cancers(81;3.17e-06)|all_epithelial(167;2.32e-06)|all_lung(203;9.81e-06)|Lung NSC(69;5.94e-05)		Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12)		GAATTAGGATCGATTGGCGGC	0.498																																						ENST00000369503.4																			2	Substitution - Missense(2)	p.S201L(2)	large_intestine(2)	endometrium(1)|large_intestine(2)|lung(12)|prostate(1)|urinary_tract(1)	17						c.(601-603)tCg>tTg		solute carrier family 22, member 15							224	208	213					1																	116569517		1962	4135	6097	SO:0001583	missense	55356				ion transport	integral to membrane	transmembrane transporter activity	g.chr1:116569517C>T	AY145501	CCDS44198.1	1p12	2013-05-22	2008-01-11		ENSG00000163393	ENSG00000163393		"Solute carriers"	20301	protein-coding gene	gene with protein product		608275	"solute carrier family 22 (organic cation transporter), member 15"			12372408	Standard	NM_018420		Approved	FLIPT1	uc001egb.4	Q8IZD6	OTTHUMG00000012008	ENST00000369503.4:c.602C>T	1.37:g.116569517C>T	ENSP00000358515:p.Ser201Leu					SLC22A15_ENST00000369502.1_Missense_Mutation_p.S201L	p.S201L	NM_018420.2	NP_060890.2	Q8IZD6	S22AF_HUMAN		Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12)	5	732	+	Lung SC(450;0.184)	all_cancers(81;3.17e-06)|all_epithelial(167;2.32e-06)|all_lung(203;9.81e-06)|Lung NSC(69;5.94e-05)	201					A8MUR3|Q6UXP5|Q8TAL9|Q9NSH5	Missense_Mutation	SNP	ENST00000369503.4	37	c.602C>T	CCDS44198.1	.	.	.	.	.	.	.	.	.	.	C	18.79	3.698299	0.68386	.	.	ENSG00000163393	ENST00000369503;ENST00000369502	T;T	0.76316	-1.01;0.11	4.92	4.92	0.64577	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.054615	0.85682	D	0.000000	T	0.64427	0.2597	L	0.31845	0.965	0.54753	D	0.999987	P;D	0.54964	0.66;0.969	B;B	0.44085	0.252;0.44	T	0.66404	-0.5932	10	0.38643	T	0.18	.	18.6782	0.91537	0.0:1.0:0.0:0.0	.	201;201	Q8IZD6;Q8IZD6-2	S22AF_HUMAN;.	L	201	ENSP00000358515:S201L;ENSP00000358514:S201L	ENSP00000358514:S201L	S	+	2	0	SLC22A15	116371040	1.000000	0.71417	0.956000	0.39512	0.927000	0.56198	5.400000	0.66320	2.710000	0.92621	0.563000	0.77884	TCG		0.498	SLC22A15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033220.2	NM_018420		51	76	0	0	0	1	0	51	76					T	116569517	C	T	116569517	3	4	435	1	0	0	0	0	1	0	0	0	14446	893	31	2	620	2	SLC22A15	1	116569517	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	1338173	116569517	132681104	505	21430											
IGSF3	3321	broad.mit.edu	37	chr1	117156481	117156481	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tggatccactcggcggcctcGcagtagaattcgccctggtc	6	9	12	14	4	0	1	0	0	0	1	5	2	1	2	3	4	0	2	3	4	2	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:117156481G>A	ENST00000369486.3	-	4	1503	c.738C>T	c.(736-738)tgC>tgT	p.C246C	IGSF3_ENST00000369483.1_Silent_p.C246C|IGSF3_ENST00000318837.6_Silent_p.C246C	NM_001007237.1	NP_001007238.1	O75054	IGSF3_HUMAN	immunoglobulin superfamily, member 3	246	Ig-like C2-type 2.				lacrimal gland development (GO:0032808)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	62	Lung SC(450;0.225)	all_cancers(81;1.24e-06)|all_epithelial(167;4.85e-07)|all_lung(203;1.66e-06)|Lung NSC(69;1.11e-05)		Lung(183;0.0142)|Colorectal(144;0.0929)|LUSC - Lung squamous cell carcinoma(189;0.108)|COAD - Colon adenocarcinoma(174;0.139)|all cancers(265;0.159)|Epithelial(280;0.166)		CGGCGGCCTCGCAGTAGAATT	0.632																																						ENST00000369486.3																			0				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	62						c.(736-738)tgC>tgT		immunoglobulin superfamily, member 3							41	38	39					1																	117156481		2203	4300	6503	SO:0001819	synonymous_variant	3321					integral to membrane		g.chr1:117156481G>A	AF031174	CCDS30813.1, CCDS30814.1	1p13	2013-01-29			ENSG00000143061	ENSG00000143061		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5950	protein-coding gene	gene with protein product		603491				9790749	Standard	NM_001007237		Approved	V8, EWI-3, MGC117164	uc031pnr.1	O75054	OTTHUMG00000022751	ENST00000369486.3:c.738C>T	1.37:g.117156481G>A						IGSF3_ENST00000369483.1_Silent_p.C246C|IGSF3_ENST00000318837.6_Silent_p.C246C	p.C246C	NM_001007237.1	NP_001007238.1	O75054	IGSF3_HUMAN		Lung(183;0.0142)|Colorectal(144;0.0929)|LUSC - Lung squamous cell carcinoma(189;0.108)|COAD - Colon adenocarcinoma(174;0.139)|all cancers(265;0.159)|Epithelial(280;0.166)	4	1503	-	Lung SC(450;0.225)	all_cancers(81;1.24e-06)|all_epithelial(167;4.85e-07)|all_lung(203;1.66e-06)|Lung NSC(69;1.11e-05)	246			Ig-like C2-type 2.		A6NJZ6|A6NMC7	Silent	SNP	ENST00000369486.3	37	c.738C>T	CCDS30813.1																																																																																				0.632	IGSF3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000059040.1	NM_001542		10	13	0	0	0	1	0	10	13					A	117156481	G	A	117156481	2	1	435	1	0	0	0	0	0	0	0	1	7601	1079	38	1		1	IGSF3	1	117156481	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	586964	117156481	132094140	506	21431											
GDAP2	54834	broad.mit.edu	37	chr1	118441732	118441732	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tctgtcgttcaggtaccacaGgctccccttctgcatttcca	6	13	7	15	1	3	0	1	0	2	0	6	0	5	0	4	2	2	4	4	2	1	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:118441732G>T	ENST00000369443.5	-	7	992	c.743C>A	c.(742-744)cCt>cAt	p.P248H	GDAP2_ENST00000369442.3_Missense_Mutation_p.P248H|GDAP2_ENST00000464026.1_5'UTR	NM_017686.3	NP_060156.1	Q9NXN4	GDAP2_HUMAN	ganglioside induced differentiation associated protein 2	248					response to retinoic acid (GO:0032526)	lysosomal membrane (GO:0005765)				kidney(2)|large_intestine(3)|lung(9)|ovary(2)	16		all_cancers(81;0.0156)|all_lung(203;5.81e-05)|Lung NSC(69;0.000446)|all_epithelial(167;0.00295)		Lung(183;0.0583)|LUSC - Lung squamous cell carcinoma(189;0.194)		AGGTACCACAGGCTCCCCTTC	0.448																																						ENST00000369443.4																			0				kidney(2)|large_intestine(3)|lung(9)|ovary(2)	16						c.(742-744)cCt>cAt		ganglioside induced differentiation associated protein 2							169	159	163					1																	118441732		2203	4300	6503	SO:0001583	missense	54834							g.chr1:118441732G>T	AK000149	CCDS897.1, CCDS44201.1	1q11	2011-10-20			ENSG00000196505	ENSG00000196505			18010	protein-coding gene	gene with protein product						1021725	Standard	NM_017686		Approved	FLJ20142, dJ776P7.1, MACROD3	uc001ehf.3	Q9NXN4	OTTHUMG00000012199	ENST00000369443.5:c.743C>A	1.37:g.118441732G>T	ENSP00000358451:p.Pro248His					GDAP2_ENST00000369442.3_Missense_Mutation_p.P248H|GDAP2_ENST00000464026.1_5'UTR	p.P248H	NM_017686.3	NP_060156.1	Q9NXN4	GDAP2_HUMAN		Lung(183;0.0583)|LUSC - Lung squamous cell carcinoma(189;0.194)	7	992	-		all_cancers(81;0.0156)|all_lung(203;5.81e-05)|Lung NSC(69;0.000446)|all_epithelial(167;0.00295)	248					Q96DZ0	Missense_Mutation	SNP	ENST00000369443.5	37	c.743C>A	CCDS897.1	.	.	.	.	.	.	.	.	.	.	G	25.7	4.670124	0.88348	.	.	ENSG00000196505	ENST00000369443;ENST00000369442	T;T	0.22743	1.94;1.94	5.44	5.44	0.79542	.	0.000000	0.85682	D	0.000000	T	0.45135	0.1327	M	0.81942	2.565	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.49698	-0.8912	10	0.87932	D	0	-14.7707	19.3238	0.94253	0.0:0.0:1.0:0.0	.	248;248	Q9NXN4-2;Q9NXN4	.;GDAP2_HUMAN	H	248	ENSP00000358451:P248H;ENSP00000358450:P248H	ENSP00000358450:P248H	P	-	2	0	GDAP2	118243255	1.000000	0.71417	1.000000	0.80357	0.866000	0.49608	9.046000	0.93817	2.555000	0.86185	0.585000	0.79938	CCT		0.448	GDAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033732.2	NM_017686		45	80	1	0	8.04919e-23	1	8.95685e-23	45	80					T	118441732	G	T	118441732	3	4	435	1	0	0	0	0	1	0	0	0	6309	1000	35	5	827	5	GDAP2	1	118441732	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	1285251	118441732	130808889	507	21432											
SPAG17	200162	broad.mit.edu	37	chr1	118635826	118635826	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggtttctcattaaccacttGtggaacattaataagctgca	13	13	7	8	0	1	0	1	0	1	0	2	1	1	1	1	2	4	3	1	2	4	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:118635826G>A	ENST00000336338.5	-	8	1191	c.1126C>T	c.(1126-1128)Caa>Taa	p.Q376*		NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	376						cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)|sperm flagellum (GO:0036126)				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		TTAACCACTTGTGGAACATTA	0.398																																						ENST00000336338.5																			0				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123						c.(1126-1128)Caa>Taa		sperm associated antigen 17							113	105	108					1																	118635826		2203	4300	6503	SO:0001587	stop_gained	200162					cilium|flagellar axoneme|microtubule		g.chr1:118635826G>A		CCDS899.1	1p12	2014-01-21			ENSG00000155761	ENSG00000155761			26620	protein-coding gene	gene with protein product							Standard	NM_206996		Approved	FLJ34497, PF6, RP4-776P7.2, CT143	uc001ehk.2	Q6Q759	OTTHUMG00000012198	ENST00000336338.5:c.1126C>T	1.37:g.118635826G>A	ENSP00000337804:p.Gln376*						p.Q376*	NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN		Lung(183;0.0858)	8	1191	-	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)	376					Q8NAZ1|Q9NT21	Nonsense_Mutation	SNP	ENST00000336338.5	37	c.1126C>T	CCDS899.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.126907	0.77549	.	.	ENSG00000155761	ENST00000336338	.	.	.	5.46	5.46	0.80206	.	1.087270	0.06913	N	0.808028	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.24483	T	0.36	.	14.7965	0.69881	0.0:0.0:1.0:0.0	.	.	.	.	X	376	.	ENSP00000337804:Q376X	Q	-	1	0	SPAG17	118437349	0.972000	0.33761	0.602000	0.28890	0.174000	0.22865	4.858000	0.62947	2.549000	0.85964	0.591000	0.81541	CAA		0.398	SPAG17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033723.1	NM_206996		34	41	0	0	0	1	0	34	41					A	118635826	G	A	118635826	4	1	435	1	0	0	0	0	0	1	0	0	14979	1386	48	3	5709	3	SPAG17	1	118635826	Nonsense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	194094	118635826	130614795	508	21433											
TBX15	6913	broad.mit.edu	37	chr1	119427790	119427790	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taggcttccatcttgctgttGccaggcaacgagggaggagt	8	10	14	9	1	1	0	0	0	1	0	2	3	2	2	2	4	3	4	2	4	2	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:119427790G>A	ENST00000369429.3	-	8	1383	c.1374C>T	c.(1372-1374)ggC>ggT	p.G458G	TBX15_ENST00000207157.3_Silent_p.G352G			Q96SF7	TBX15_HUMAN	T-box 15	458					embryonic cranial skeleton morphogenesis (GO:0048701)	Tle3-Aes complex (GO:0070722)	RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(19)|ovary(1)|pancreas(1)|skin(5)	37	all_neural(166;0.117)	all_cancers(81;0.000692)|all_lung(203;3.05e-06)|Lung NSC(69;2.13e-05)|all_epithelial(167;0.000237)		Lung(183;0.044)|LUSC - Lung squamous cell carcinoma(189;0.141)		TCTTGCTGTTGCCAGGCAACG	0.562																																						ENST00000369429.3																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(19)|ovary(1)|pancreas(1)|skin(5)	37						c.(1372-1374)ggC>ggT		T-box 15							70	63	65					1																	119427790		2203	4300	6503	SO:0001819	synonymous_variant	6913					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr1:119427790G>A	AK127536	CCDS30816.1	1p11.1	2008-02-05	2004-10-05		ENSG00000092607	ENSG00000092607		"T-boxes"	11594	protein-coding gene	gene with protein product		604127	"T-box 14"	TBX14		9693034	Standard	XM_005271162		Approved		uc001ehl.1	Q96SF7	OTTHUMG00000012263	ENST00000369429.3:c.1374C>T	1.37:g.119427790G>A						TBX15_ENST00000207157.3_Silent_p.G352G	p.G458G			Q96SF7	TBX15_HUMAN		Lung(183;0.044)|LUSC - Lung squamous cell carcinoma(189;0.141)	8	1383	-	all_neural(166;0.117)	all_cancers(81;0.000692)|all_lung(203;3.05e-06)|Lung NSC(69;2.13e-05)|all_epithelial(167;0.000237)	458					Q08E76|Q5JT54|Q5T9S7	Silent	SNP	ENST00000369429.3	37	c.1374C>T		.	.	.	.	.	.	.	.	.	.	G	3.060	-0.193548	0.06259	.	.	ENSG00000092607	ENST00000393149	.	.	.	5.31	4.39	0.52855	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.9441	0.64073	0.0728:0.0:0.9271:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TBX15	119229313	1.000000	0.71417	1.000000	0.80357	0.663000	0.39108	4.854000	0.62918	1.468000	0.48064	0.561000	0.74099	.		0.562	TBX15-002	PUTATIVE	not_organism_supported|upstream_ATG|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000034351.1	NM_152380		4	34	0	0	0	1	0	4	34					A	119427790	G	A	119427790	2	1	435	1	0	0	0	0	0	0	0	1	15649	1306	46	3		3	TBX15	1	119427790	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	791964	119427790	129822831	509	21434											
WARS2	10352	broad.mit.edu	37	chr1	119584902	119584902	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttacttgtacaacagaatgTcggctgcctggagtactggg	9	11	12	9	1	0	1	0	0	0	1	1	2	0	2	1	3	5	3	1	3	5	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:119584902T>C	ENST00000235521.4	-	4	526	c.500A>G	c.(499-501)gAc>gGc	p.D167G	WARS2_ENST00000537870.1_Missense_Mutation_p.D73G|WARS2_ENST00000369426.5_Missense_Mutation_p.D167G	NM_015836.3|NM_201263.2	NP_056651.1|NP_957715.1	Q9UGM6	SYWM_HUMAN	tryptophanyl tRNA synthetase 2, mitochondrial	167					gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)|tryptophanyl-tRNA aminoacylation (GO:0006436)|vasculogenesis (GO:0001570)	mitochondrial matrix (GO:0005759)	ATP binding (GO:0005524)|tryptophan-tRNA ligase activity (GO:0004830)			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(2)	15	all_neural(166;0.187)	all_lung(203;2.48e-06)|Lung NSC(69;1.74e-05)|all_epithelial(167;0.000564)		Lung(183;0.0629)	L-Tryptophan(DB00150)	CAACAGAATGTCGGCTGCCTG	0.478																																						ENST00000369426.5																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(2)	15						c.(499-501)gAc>gGc		tryptophanyl tRNA synthetase 2, mitochondrial	L-Tryptophan(DB00150)						143	127	132					1																	119584902		2203	4300	6503	SO:0001583	missense	10352				tryptophanyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|tryptophan-tRNA ligase activity	g.chr1:119584902T>C	BC021722	CCDS900.1, CCDS30817.1	1p12	2011-07-01	2007-02-23		ENSG00000116874	ENSG00000116874	6.1.1.2	"Aminoacyl tRNA synthetases / Class I"	12730	protein-coding gene	gene with protein product	"tryptophan tRNA ligase 2, mitochondrial"	604733				10072595, 10828066	Standard	NM_201263		Approved	TrpRS	uc001ehn.3	Q9UGM6	OTTHUMG00000012335	ENST00000235521.4:c.500A>G	1.37:g.119584902T>C	ENSP00000235521:p.Asp167Gly					WARS2_ENST00000235521.4_Missense_Mutation_p.D167G|WARS2_ENST00000537870.1_Missense_Mutation_p.D73G	p.D167G			Q9UGM6	SYWM_HUMAN		Lung(183;0.0629)	4	503	-	all_neural(166;0.187)	all_lung(203;2.48e-06)|Lung NSC(69;1.74e-05)|all_epithelial(167;0.000564)	167					B1ALR1|B2R9D4|Q53FT4|Q5VUD2|Q86TQ0	Missense_Mutation	SNP	ENST00000235521.4	37	c.500A>G	CCDS900.1	.	.	.	.	.	.	.	.	.	.	T	23.9	4.474599	0.84640	.	.	ENSG00000116874	ENST00000369426;ENST00000235521;ENST00000537870	T;T;T	0.78003	-1.14;-1.14;-1.14	5.66	5.66	0.87406	Rossmann-like alpha/beta/alpha sandwich fold (1);	0.000000	0.85682	D	0.000000	D	0.92678	0.7673	H	0.99425	4.56	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.95583	0.8648	10	0.87932	D	0	-26.8681	14.4619	0.67456	0.0:0.0:0.0:1.0	.	110;167;167	B7Z6G7;Q9UGM6;B1ALR1	.;SYWM_HUMAN;.	G	167;167;73	ENSP00000358434:D167G;ENSP00000235521:D167G;ENSP00000438807:D73G	ENSP00000235521:D167G	D	-	2	0	WARS2	119386425	1.000000	0.71417	0.989000	0.46669	0.876000	0.50452	7.247000	0.78257	2.144000	0.66660	0.528000	0.53228	GAC		0.478	WARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034362.1	NM_015836		28	44	0	0	0	1	0	28	44					C	119584902	T	C	119584902	3	2	435	1	0	0	0	0	1	0	0	0	17247	1667	58	4	623	4	WARS2	1	119584902	Missense_Mutation	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	157112	119584902	129665719	510	21435											
HSD3B2	3284	broad.mit.edu	37	chr1	119962120	119962120	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgaaaagagcctgccaggaCgtctcggtcgtcatccacac	10	7	10	14	3	2	2	1	1	1	1	5	3	3	3	3	2	2	0	3	2	2	0	rs150892928	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:119962120C>T	ENST00000543831.1	+	3	471	c.222C>T	c.(220-222)gaC>gaT	p.D74D	HSD3B2_ENST00000369416.3_Silent_p.D74D|HSD3B2_ENST00000471656.1_3'UTR	NM_001166120.1	NP_001159592.1	P26439	3BHS2_HUMAN	hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2	74			D -> N (in dbSNP:rs4986954).		androgen biosynthetic process (GO:0006702)|glucocorticoid biosynthetic process (GO:0006704)|mineralocorticoid biosynthetic process (GO:0006705)|small molecule metabolic process (GO:0044281)|steroid biosynthetic process (GO:0006694)|steroid metabolic process (GO:0008202)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrial membrane (GO:0031966)|smooth endoplasmic reticulum membrane (GO:0030868)	3-beta-hydroxy-delta5-steroid dehydrogenase activity (GO:0003854)|steroid delta-isomerase activity (GO:0004769)			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(19)|ovary(2)|skin(1)	27	all_neural(166;0.187)	all_lung(203;1.06e-06)|Lung NSC(69;7.5e-06)|all_epithelial(167;0.000284)		Lung(183;0.015)|LUSC - Lung squamous cell carcinoma(189;0.0836)	Corticotropin(DB01285)|Medroxyprogesterone Acetate(DB00603)|Trilostane(DB01108)	CCTGCCAGGACGTCTCGGTCG	0.502																																						ENST00000543831.1																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(19)|ovary(2)|skin(1)	27						c.(220-222)gaC>gaT		hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2	NADH(DB00157)|Trilostane(DB01108)	C	,	1,4405		0,1,2202	112	89	97		222,222	-2.6	0	1	dbSNP_134	97	5,8595		0,5,4295	no	coding-synonymous,coding-synonymous	HSD3B2	NM_000198.3,NM_001166120.1	,	0,6,6497	TT,TC,CC		0.0581,0.0227,0.0461	,	74/373,74/373	119962120	6,13000	2203	4300	6503	SO:0001819	synonymous_variant	3284				androgen biosynthetic process|glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process	integral to membrane|microsome|mitochondrial inner membrane|mitochondrial intermembrane space|smooth endoplasmic reticulum membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|steroid delta-isomerase activity	g.chr1:119962120C>T	BC038419	CCDS902.1	1p12	2014-06-03			ENSG00000203859	ENSG00000203859	1.1.1.145, 5.3.3.1	"Short chain dehydrogenase/reductase superfamily / Extended SDR fold"	5218	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 11E, member 2"	613890				1363812, 19027726	Standard	NM_000198		Approved	SDR11E2	uc001eht.3	P26439	OTTHUMG00000012526	ENST00000543831.1:c.222C>T	1.37:g.119962120C>T						HSD3B2_ENST00000471656.1_3'UTR|HSD3B2_ENST00000369416.3_Silent_p.D74D	p.D74D	NM_001166120.1	NP_001159592.1	P26439	3BHS2_HUMAN		Lung(183;0.015)|LUSC - Lung squamous cell carcinoma(189;0.0836)	3	471	+	all_neural(166;0.187)	all_lung(203;1.06e-06)|Lung NSC(69;7.5e-06)|all_epithelial(167;0.000284)	74		D -> N (in dbSNP:rs4986954).			A2RRA5|Q16010|Q53GD4|Q6AI10|Q6LDB9|Q99890|Q9UD08	Silent	SNP	ENST00000543831.1	37	c.222C>T	CCDS902.1																																																																																				0.502	HSD3B2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034994.1	NM_000198		15	20	0	0	0	1	0	15	20					T	119962120	C	T	119962120	2	4	435	1	0	0	0	0	0	0	0	1	7391	535	19	1		1	HSD3B2	1	119962120	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	377218	119962120	129288501	511	21436											
HSD3B2	3284	broad.mit.edu	37	chr1	119964454	119964454	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acccagctactgttggaggcCtgtgtccaagccagtgtgcc	7	9	12	13	0	0	0	0	0	0	0	1	1	1	1	5	2	4	2	5	2	2	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:119964454C>A	ENST00000543831.1	+	4	579	c.330C>A	c.(328-330)gcC>gcA	p.A110A	HSD3B2_ENST00000369416.3_Silent_p.A110A	NM_001166120.1	NP_001159592.1	P26439	3BHS2_HUMAN	hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2	110					androgen biosynthetic process (GO:0006702)|glucocorticoid biosynthetic process (GO:0006704)|mineralocorticoid biosynthetic process (GO:0006705)|small molecule metabolic process (GO:0044281)|steroid biosynthetic process (GO:0006694)|steroid metabolic process (GO:0008202)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrial membrane (GO:0031966)|smooth endoplasmic reticulum membrane (GO:0030868)	3-beta-hydroxy-delta5-steroid dehydrogenase activity (GO:0003854)|steroid delta-isomerase activity (GO:0004769)			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(19)|ovary(2)|skin(1)	27	all_neural(166;0.187)	all_lung(203;1.06e-06)|Lung NSC(69;7.5e-06)|all_epithelial(167;0.000284)		Lung(183;0.015)|LUSC - Lung squamous cell carcinoma(189;0.0836)	Corticotropin(DB01285)|Medroxyprogesterone Acetate(DB00603)|Trilostane(DB01108)	TGTTGGAGGCCTGTGTCCAAG	0.537																																						ENST00000543831.1																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(19)|ovary(2)|skin(1)	27						c.(328-330)gcC>gcA		hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2	NADH(DB00157)|Trilostane(DB01108)						125	125	125					1																	119964454		2203	4300	6503	SO:0001819	synonymous_variant	3284				androgen biosynthetic process|glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process	integral to membrane|microsome|mitochondrial inner membrane|mitochondrial intermembrane space|smooth endoplasmic reticulum membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|steroid delta-isomerase activity	g.chr1:119964454C>A	BC038419	CCDS902.1	1p12	2014-06-03			ENSG00000203859	ENSG00000203859	1.1.1.145, 5.3.3.1	"Short chain dehydrogenase/reductase superfamily / Extended SDR fold"	5218	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 11E, member 2"	613890				1363812, 19027726	Standard	NM_000198		Approved	SDR11E2	uc001eht.3	P26439	OTTHUMG00000012526	ENST00000543831.1:c.330C>A	1.37:g.119964454C>A						HSD3B2_ENST00000369416.3_Silent_p.A110A	p.A110A	NM_001166120.1	NP_001159592.1	P26439	3BHS2_HUMAN		Lung(183;0.015)|LUSC - Lung squamous cell carcinoma(189;0.0836)	4	579	+	all_neural(166;0.187)	all_lung(203;1.06e-06)|Lung NSC(69;7.5e-06)|all_epithelial(167;0.000284)	110					A2RRA5|Q16010|Q53GD4|Q6AI10|Q6LDB9|Q99890|Q9UD08	Silent	SNP	ENST00000543831.1	37	c.330C>A	CCDS902.1																																																																																				0.537	HSD3B2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034994.1	NM_000198		72	90	1	0	3.12118e-38	1	3.50628e-38	72	90					A	119964454	C	A	119964454	2	1	435	1	0	0	0	0	0	0	0	1	7391	668	24	5		5	HSD3B2	1	119964454	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	2334	119964454	129286167	512	21437											
HSD3B2	3284	broad.mit.edu	37	chr1	119964755	119964755	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctgaacaacaatgggatcCtgtcaagtgttggaaagttc	12	10	10	9	0	1	1	1	1	0	0	3	3	2	3	2	2	2	2	2	2	5	2	rs143038843		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:119964755C>A	ENST00000543831.1	+	4	880	c.631C>A	c.(631-633)Ctg>Atg	p.L211M	HSD3B2_ENST00000369416.3_Missense_Mutation_p.L211M	NM_001166120.1	NP_001159592.1	P26439	3BHS2_HUMAN	hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2	211					androgen biosynthetic process (GO:0006702)|glucocorticoid biosynthetic process (GO:0006704)|mineralocorticoid biosynthetic process (GO:0006705)|small molecule metabolic process (GO:0044281)|steroid biosynthetic process (GO:0006694)|steroid metabolic process (GO:0008202)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrial membrane (GO:0031966)|smooth endoplasmic reticulum membrane (GO:0030868)	3-beta-hydroxy-delta5-steroid dehydrogenase activity (GO:0003854)|steroid delta-isomerase activity (GO:0004769)			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(19)|ovary(2)|skin(1)	27	all_neural(166;0.187)	all_lung(203;1.06e-06)|Lung NSC(69;7.5e-06)|all_epithelial(167;0.000284)		Lung(183;0.015)|LUSC - Lung squamous cell carcinoma(189;0.0836)	Corticotropin(DB01285)|Medroxyprogesterone Acetate(DB00603)|Trilostane(DB01108)	CAATGGGATCCTGTCAAGTGT	0.507																																						ENST00000543831.1																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(19)|ovary(2)|skin(1)	27						c.(631-633)Ctg>Atg		hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2	NADH(DB00157)|Trilostane(DB01108)						74	72	73					1																	119964755		2203	4300	6503	SO:0001583	missense	3284				androgen biosynthetic process|glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process	integral to membrane|microsome|mitochondrial inner membrane|mitochondrial intermembrane space|smooth endoplasmic reticulum membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|steroid delta-isomerase activity	g.chr1:119964755C>A	BC038419	CCDS902.1	1p12	2014-06-03			ENSG00000203859	ENSG00000203859	1.1.1.145, 5.3.3.1	"Short chain dehydrogenase/reductase superfamily / Extended SDR fold"	5218	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 11E, member 2"	613890				1363812, 19027726	Standard	NM_000198		Approved	SDR11E2	uc001eht.3	P26439	OTTHUMG00000012526	ENST00000543831.1:c.631C>A	1.37:g.119964755C>A	ENSP00000445122:p.Leu211Met					HSD3B2_ENST00000369416.3_Missense_Mutation_p.L211M	p.L211M	NM_001166120.1	NP_001159592.1	P26439	3BHS2_HUMAN		Lung(183;0.015)|LUSC - Lung squamous cell carcinoma(189;0.0836)	4	880	+	all_neural(166;0.187)	all_lung(203;1.06e-06)|Lung NSC(69;7.5e-06)|all_epithelial(167;0.000284)	211					A2RRA5|Q16010|Q53GD4|Q6AI10|Q6LDB9|Q99890|Q9UD08	Missense_Mutation	SNP	ENST00000543831.1	37	c.631C>A	CCDS902.1	.	.	.	.	.	.	.	.	.	.	-	9.835	1.189432	0.21954	.	.	ENSG00000203859	ENST00000543831;ENST00000369416	D;D	0.84800	-1.9;-1.9	3.98	0.621	0.17643	3-beta hydroxysteroid dehydrogenase/isomerase (1);NAD(P)-binding domain (1);	0.389861	0.26435	N	0.024389	T	0.77089	0.4079	M	0.73598	2.24	0.35143	D	0.769033	P	0.41848	0.763	P	0.46389	0.515	T	0.72554	-0.4258	9	.	.	.	-16.7399	4.5678	0.12195	0.3105:0.5148:0.0:0.1747	.	211	P26439	3BHS2_HUMAN	M	211	ENSP00000445122:L211M;ENSP00000358424:L211M	.	L	+	1	2	HSD3B2	119766278	0.686000	0.27661	0.078000	0.20375	0.050000	0.14768	0.263000	0.18478	0.639000	0.30564	0.298000	0.19748	CTG		0.507	HSD3B2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034994.1	NM_000198		20	58	1	0	1.96292e-10	1	2.09789e-10	20	58					A	119964755	C	A	119964755	3	1	435	1	0	0	0	0	1	0	0	0	7391	680	24	5	641	5	HSD3B2	1	119964755	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	301	119964755	129285866	513	21438											
HSD3B1	3283	broad.mit.edu	37	chr1	120056532	120056532	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	caccagtagcatagaggtagCcgggcccaactcctacaagg	12	5	11	13	1	0	1	0	0	0	1	1	1	1	1	4	3	4	3	4	3	6	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:120056532C>T	ENST00000369413.3	+	4	531	c.386C>T	c.(385-387)gCc>gTc	p.A129V	HSD3B1_ENST00000235547.6_Missense_Mutation_p.A131V|HSD3B1_ENST00000528909.1_Missense_Mutation_p.A129V			P14060	3BHS1_HUMAN	hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1	129					androgen biosynthetic process (GO:0006702)|estrogen biosynthetic process (GO:0006703)|glucocorticoid biosynthetic process (GO:0006704)|mineralocorticoid biosynthetic process (GO:0006705)|small molecule metabolic process (GO:0044281)|steroid biosynthetic process (GO:0006694)|steroid metabolic process (GO:0008202)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|smooth endoplasmic reticulum membrane (GO:0030868)	3-beta-hydroxy-delta5-steroid dehydrogenase activity (GO:0003854)|steroid delta-isomerase activity (GO:0004769)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(18)|ovary(2)|prostate(1)|skin(1)	32	all_neural(166;0.219)	all_lung(203;3.16e-06)|Lung NSC(69;2.19e-05)|all_epithelial(167;0.000624)		Lung(183;0.0106)|LUSC - Lung squamous cell carcinoma(189;0.0554)	Trilostane(DB01108)	ATAGAGGTAGCCGGGCCCAAC	0.512																																						ENST00000235547.6																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(18)|ovary(2)|prostate(1)|skin(1)	32						c.(391-393)gCc>gTc		hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1	NADH(DB00157)|Trilostane(DB01108)						173	175	174					1																	120056532		2203	4300	6503	SO:0001583	missense	3283				androgen biosynthetic process|estrogen biosynthetic process|glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process	integral to membrane|microsome|mitochondrial inner membrane|mitochondrial intermembrane space|smooth endoplasmic reticulum membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|steroid delta-isomerase activity	g.chr1:120056532C>T	S45679	CCDS903.1	1p12	2014-06-03			ENSG00000203857	ENSG00000203857	1.1.1.145, 5.3.3.1	"Short chain dehydrogenase/reductase superfamily / Extended SDR fold"	5217	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 11E, member 1"	109715		HSDB3, HSD3B		2779585, 19027726	Standard	NM_000862		Approved	SDR11E1	uc001ehv.1	P14060	OTTHUMG00000012525	ENST00000369413.3:c.386C>T	1.37:g.120056532C>T	ENSP00000358421:p.Ala129Val					HSD3B1_ENST00000369413.3_Missense_Mutation_p.A129V|HSD3B1_ENST00000528909.1_Missense_Mutation_p.A129V	p.A131V	NM_000862.2	NP_000853.1	P14060	3BHS1_HUMAN		Lung(183;0.0106)|LUSC - Lung squamous cell carcinoma(189;0.0554)	4	531	+	all_neural(166;0.219)	all_lung(203;3.16e-06)|Lung NSC(69;2.19e-05)|all_epithelial(167;0.000624)	129					A8K691|Q14545|Q8IV65	Missense_Mutation	SNP	ENST00000369413.3	37	c.392C>T	CCDS903.1	.	.	.	.	.	.	.	.	.	.	C	7.340	0.620797	0.14193	.	.	ENSG00000203857	ENST00000369413;ENST00000235547;ENST00000528909	D;D;D	0.87412	-2.25;-2.25;-2.25	3.7	3.7	0.42460	3-beta hydroxysteroid dehydrogenase/isomerase (1);NAD(P)-binding domain (1);	0.349316	0.33382	N	0.004967	T	0.77974	0.4211	L	0.31476	0.935	0.38585	D	0.950276	B;D	0.76494	0.379;0.999	B;D	0.73708	0.124;0.981	T	0.77606	-0.2525	10	0.02654	T	1	-8.1817	7.2176	0.25969	0.0:0.8765:0.0:0.1235	.	131;129	Q5TDG2;P14060	.;3BHS1_HUMAN	V	129;131;129	ENSP00000358421:A129V;ENSP00000235547:A131V;ENSP00000432268:A129V	ENSP00000235547:A131V	A	+	2	0	HSD3B1	119858055	0.984000	0.35163	0.729000	0.30791	0.215000	0.24574	2.414000	0.44627	2.033000	0.60031	0.491000	0.48974	GCC		0.512	HSD3B1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000034993.3	NM_000862		97	130	0	0	0	1	0	97	130					T	120056532	C	T	120056532	3	4	435	1	0	0	0	0	1	0	0	0	7390	739	26	3	396	3	HSD3B1	1	120056532	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	91777	120056532	129194089	514	21439											
PHGDH	26227	broad.mit.edu	37	chr1	120269491	120269491	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggcagattccccaggcgaCggcttcgatgaaggacggca	10	5	14	12	4	0	2	0	1	0	1	2	5	1	3	2	5	0	3	2	5	1	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:120269491C>T	ENST00000369409.4	+	4	510	c.374C>T	c.(373-375)aCg>aTg	p.T125M	PHGDH_ENST00000369407.3_Missense_Mutation_p.T91M	NM_006623.3	NP_006614.2	O43175	SERA_HUMAN	phosphoglycerate dehydrogenase	125					brain development (GO:0007420)|cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|G1 to G0 transition (GO:0070314)|gamma-aminobutyric acid metabolic process (GO:0009448)|glial cell development (GO:0021782)|glutamine metabolic process (GO:0006541)|glycine metabolic process (GO:0006544)|L-serine biosynthetic process (GO:0006564)|neural tube development (GO:0021915)|neuron projection development (GO:0031175)|regulation of gene expression (GO:0010468)|small molecule metabolic process (GO:0044281)|spinal cord development (GO:0021510)|taurine metabolic process (GO:0019530)|threonine metabolic process (GO:0006566)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	electron carrier activity (GO:0009055)|NAD binding (GO:0051287)|phosphoglycerate dehydrogenase activity (GO:0004617)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)	18	all_cancers(5;1.18e-09)|all_epithelial(5;2.16e-10)|Melanoma(3;1.93e-05)|all_neural(166;0.219)	all_lung(203;3.66e-05)|Lung NSC(69;0.000202)|all_epithelial(167;0.0347)		Lung(183;0.0111)|LUSC - Lung squamous cell carcinoma(189;0.0593)		CCCCAGGCGACGGCTTCGATG	0.607																																						ENST00000369407.3																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)	18						c.(271-273)aCg>aTg		phosphoglycerate dehydrogenase	NADH(DB00157)						70	66	67					1																	120269491		2203	4300	6503	SO:0001583	missense	26227				brain development|L-serine biosynthetic process		electron carrier activity|NAD binding|phosphoglycerate dehydrogenase activity	g.chr1:120269491C>T	BC011262	CCDS904.1	1p12	2008-02-05			ENSG00000092621	ENSG00000092621	1.1.1.95		8923	protein-coding gene	gene with protein product		606879					Standard	NM_006623		Approved	SERA, PGDH, PDG	uc001ehz.3	O43175	OTTHUMG00000012100	ENST00000369409.4:c.374C>T	1.37:g.120269491C>T	ENSP00000358417:p.Thr125Met					PHGDH_ENST00000369409.4_Missense_Mutation_p.T125M	p.T91M			O43175	SERA_HUMAN		Lung(183;0.0111)|LUSC - Lung squamous cell carcinoma(189;0.0593)	3	1779	+	all_cancers(5;1.18e-09)|all_epithelial(5;2.16e-10)|Melanoma(3;1.93e-05)|all_neural(166;0.219)	all_lung(203;3.66e-05)|Lung NSC(69;0.000202)|all_epithelial(167;0.0347)	125					B2RD08|Q5SZU3|Q9BQ01	Missense_Mutation	SNP	ENST00000369409.4	37	c.272C>T	CCDS904.1	.	.	.	.	.	.	.	.	.	.	C	16.60	3.169509	0.57584	.	.	ENSG00000092621	ENST00000369409;ENST00000369407	T;T	0.80566	-1.39;-1.39	5.68	5.68	0.88126	D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding (1);D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain (1);NAD(P)-binding domain (1);	0.348813	0.32987	N	0.005407	T	0.71609	0.3360	N	0.17723	0.515	0.09310	N	1	D;D;P	0.57571	0.98;0.98;0.951	P;P;P	0.53185	0.72;0.72;0.72	T	0.70117	-0.4960	10	0.52906	T	0.07	-15.2451	18.3597	0.90371	0.0:1.0:0.0:0.0	.	91;91;125	B3KSC3;Q5SZU1;O43175	.;.;SERA_HUMAN	M	125;91	ENSP00000358417:T125M;ENSP00000358415:T91M	ENSP00000358415:T91M	T	+	2	0	PHGDH	120071014	0.140000	0.22579	0.037000	0.18230	0.595000	0.36748	1.908000	0.39907	2.689000	0.91719	0.655000	0.94253	ACG		0.607	PHGDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033464.1	NM_006623		5	16	0	0	0	1	0	5	16					T	120269491	C	T	120269491	3	4	435	1	0	0	0	0	1	0	0	0	11841	536	19	1	388	1	PHGDH	1	120269491	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	212959	120269491	128981130	515	21440											
REG4	83998	broad.mit.edu	37	chr1	120342445	120342445	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cttcctttaaactcaggataGatgccaggtgggctccgttt	8	13	10	10	1	1	1	1	0	0	1	3	2	3	2	3	3	2	2	3	3	3	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:120342445G>A	ENST00000354219.1	-	5	645	c.206C>T	c.(205-207)tCt>tTt	p.S69F	REG4_ENST00000256585.5_Missense_Mutation_p.S69F|REG4_ENST00000530654.1_Missense_Mutation_p.S69F	NM_001159352.1	NP_001152824.1	Q9BYZ8	REG4_HUMAN	regenerating islet-derived family, member 4	69	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.					cytoplasm (GO:0005737)|extracellular region (GO:0005576)	heparin binding (GO:0008201)|mannan binding (GO:2001065)			central_nervous_system(1)|large_intestine(1)|lung(8)|ovary(2)|prostate(1)|skin(2)	15	all_cancers(5;4.81e-10)|all_epithelial(5;7.98e-11)|Melanoma(3;1.93e-05)|Breast(55;0.218)|all_neural(166;0.219)	all_lung(203;8.1e-07)|Lung NSC(69;5.89e-06)|all_epithelial(167;0.000959)		Lung(183;0.011)|LUSC - Lung squamous cell carcinoma(189;0.0588)		ACTCAGGATAGATGCCAGGTG	0.502																																						ENST00000354219.1																			0				central_nervous_system(1)|large_intestine(1)|lung(8)|ovary(2)|prostate(1)|skin(2)	15						c.(205-207)tCt>tTt		regenerating islet-derived family, member 4							217	200	206					1																	120342445		2203	4300	6503	SO:0001583	missense	83998					extracellular region	sugar binding	g.chr1:120342445G>A	AY007243	CCDS906.1, CCDS53354.1	1p13.1-p12	2008-02-05			ENSG00000134193	ENSG00000134193			22977	protein-coding gene	gene with protein product	"regenerating gene type IV", " gastrointestinal secretory protein"	609846				11311942, 12455032	Standard	NM_032044		Approved	REG-IV, RELP, GISP	uc001eif.3	Q9BYZ8	OTTHUMG00000012175	ENST00000354219.1:c.206C>T	1.37:g.120342445G>A	ENSP00000346158:p.Ser69Phe					REG4_ENST00000530654.1_Missense_Mutation_p.S69F|REG4_ENST00000256585.5_Missense_Mutation_p.S69F	p.S69F	NM_001159352.1	NP_001152824.1	Q9BYZ8	REG4_HUMAN		Lung(183;0.011)|LUSC - Lung squamous cell carcinoma(189;0.0588)	5	645	-	all_cancers(5;4.81e-10)|all_epithelial(5;7.98e-11)|Melanoma(3;1.93e-05)|Breast(55;0.218)|all_neural(166;0.219)	all_lung(203;8.1e-07)|Lung NSC(69;5.89e-06)|all_epithelial(167;0.000959)	69			C-type lectin.		Q8NER6|Q8NER7	Missense_Mutation	SNP	ENST00000354219.1	37	c.206C>T	CCDS906.1	.	.	.	.	.	.	.	.	.	.	G	17.77	3.470126	0.63625	.	.	ENSG00000134193	ENST00000354219;ENST00000256585;ENST00000369402;ENST00000530654	T;T;T	0.21734	2.79;2.79;1.99	4.89	4.89	0.63831	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	0.094775	0.45606	D	0.000357	T	0.45895	0.1365	M	0.90814	3.15	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.54997	-0.8209	10	0.87932	D	0	-27.9814	13.4695	0.61273	0.0:0.0:1.0:0.0	.	69	Q9BYZ8	REG4_HUMAN	F	69	ENSP00000346158:S69F;ENSP00000256585:S69F;ENSP00000437135:S69F	ENSP00000256585:S69F	S	-	2	0	REG4	120143968	0.766000	0.28496	0.085000	0.20634	0.006000	0.05464	4.033000	0.57282	2.551000	0.86045	0.650000	0.86243	TCT		0.502	REG4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033675.1	NM_032044		65	85	0	0	0	1	0	65	85					A	120342445	G	A	120342445	3	1	435	1	0	0	0	0	1	0	0	0	13214	942	33	3	282	3	REG4	1	120342445	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	72954	120342445	128908176	516	21441											
ADAM30	11085	broad.mit.edu	37	chr1	120437245	120437245	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aatgagtagaaattatagtcGtatgctctggcaaatcaggg	14	11	11	5	1	2	2	1	1	1	1	3	2	2	2	0	2	1	4	0	2	7	4	rs367708640		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:120437245G>A	ENST00000369400.1	-	1	1873	c.1715C>T	c.(1714-1716)aCg>aTg	p.T572M		NM_021794.3	NP_068566.2	Q9UKF2	ADA30_HUMAN	ADAM metallopeptidase domain 30	572	Cys-rich.				binding of sperm to zona pellucida (GO:0007339)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(16)|ovary(2)|skin(2)	38	all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234)	all_lung(203;1.55e-06)|Lung NSC(69;1.04e-05)|all_epithelial(167;0.00138)		Lung(183;0.0204)|LUSC - Lung squamous cell carcinoma(189;0.117)		AATTATAGTCGTATGCTCTGG	0.398																																						ENST00000369400.1																			0				NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(16)|ovary(2)|skin(2)	38						c.(1714-1716)aCg>aTg		ADAM metallopeptidase domain 30		G	MET/THR	1,4405	2.1+/-5.4	0,1,2202	110	111	111		1715	3.4	0	1		111	0,8600		0,0,4300	no	missense	ADAM30	NM_021794.3	81	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	572/791	120437245	1,13005	2203	4300	6503	SO:0001583	missense	11085				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding	g.chr1:120437245G>A	AF171932	CCDS907.1	1p12	2012-05-16	2005-08-18		ENSG00000134249	ENSG00000134249		"ADAM metallopeptidase domain containing"	208	protein-coding gene	gene with protein product		604779	"a disintegrin and metalloproteinase domain 30"				Standard	NM_021794		Approved	svph4	uc001eij.3	Q9UKF2	OTTHUMG00000012176	ENST00000369400.1:c.1715C>T	1.37:g.120437245G>A	ENSP00000358407:p.Thr572Met						p.T572M	NM_021794.3	NP_068566.2	Q9UKF2	ADA30_HUMAN		Lung(183;0.0204)|LUSC - Lung squamous cell carcinoma(189;0.117)	1	1873	-	all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234)	all_lung(203;1.55e-06)|Lung NSC(69;1.04e-05)|all_epithelial(167;0.00138)	572			Cys-rich.		A8K8W8|Q5T3X6|Q9UKF1	Missense_Mutation	SNP	ENST00000369400.1	37	c.1715C>T	CCDS907.1	.	.	.	.	.	.	.	.	.	.	G	15.94	2.980983	0.53827	2.27E-4	0.0	ENSG00000134249	ENST00000369400;ENST00000543066	T	0.23147	1.92	5.28	3.38	0.38709	ADAM, cysteine-rich (2);	0.139999	0.32357	N	0.006220	T	0.31167	0.0788	M	0.87097	2.86	0.09310	N	1	D	0.57571	0.98	P	0.58130	0.833	T	0.17961	-1.0352	10	0.59425	D	0.04	.	7.0458	0.25044	0.0912:0.1737:0.7352:0.0	.	572	Q9UKF2	ADA30_HUMAN	M	572	ENSP00000358407:T572M	ENSP00000358407:T572M	T	-	2	0	ADAM30	120238768	0.000000	0.05858	0.003000	0.11579	0.043000	0.13939	-0.350000	0.07721	0.765000	0.33221	0.655000	0.94253	ACG		0.398	ADAM30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033678.1	NM_021794		42	73	0	0	0	1	0	42	73					A	120437245	G	A	120437245	3	1	435	1	0	0	0	0	1	0	0	0	248	1145	40	1	661	1	ADAM30	1	120437245	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	94800	120437245	128813376	517	21442											
NOTCH2	4853	broad.mit.edu	37	chr1	120464896	120464896	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgtcccactggctcacgacGcttgtgattgcttgcatctc	5	13	9	14	2	2	1	1	1	1	0	4	2	3	1	1	1	2	4	1	1	0	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:120464896G>A	ENST00000256646.2	-	28	5395	c.5176C>T	c.(5176-5178)Cgt>Tgt	p.R1726C	NOTCH2_ENST00000493703.1_5'Flank	NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2	1726					apoptotic process (GO:0006915)|atrial septum morphogenesis (GO:0060413)|bone remodeling (GO:0046849)|cell cycle arrest (GO:0007050)|cell fate determination (GO:0001709)|cell growth (GO:0016049)|ciliary body morphogenesis (GO:0061073)|determination of left/right symmetry (GO:0007368)|embryonic limb morphogenesis (GO:0030326)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|humoral immune response (GO:0006959)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|intracellular receptor signaling pathway (GO:0030522)|morphogenesis of an epithelial sheet (GO:0002011)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|placenta blood vessel development (GO:0060674)|positive regulation of apoptotic process (GO:0043065)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation (GO:0008284)|positive regulation of Ras protein signal transduction (GO:0046579)|pulmonary valve morphogenesis (GO:0003184)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell surface (GO:0009986)|cilium (GO:0005929)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|ligand-activated RNA polymerase II transcription factor binding transcription factor activity (GO:0038049)|receptor activity (GO:0004872)	p.R1726C(1)		breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		GGCTCACGACGCTTGTGATTG	0.488			"N, F, Mis"		"marginal zone lymphoma, DLBCL"				Alagille Syndrome																													ENST00000256646.2				Dom	yes		1	1p13-p11	4853	"N, F, Mis"	Notch homolog 2			L			"marginal zone lymphoma, DLBCL"		1	Substitution - Missense(1)	p.R1726C(1)	kidney(1)	breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158						c.(5176-5178)Cgt>Tgt		notch 2							87	84	85					1																	120464896		2203	4300	6503	SO:0001583	missense	4853	Alagille Syndrome	Familial Cancer Database	ALGS1, ALGS2.Alagille-Watson syndrome	anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity	g.chr1:120464896G>A	AF315356	CCDS908.1	1p13-p11	2013-01-10	2010-06-24		ENSG00000134250	ENSG00000134250		"Ankyrin repeat domain containing"	7882	protein-coding gene	gene with protein product		600275	"Notch (Drosophila) homolog 2", "Notch homolog 2 (Drosophila)"			7698746	Standard	NM_001200001		Approved		uc001eik.3	Q04721	OTTHUMG00000012177	ENST00000256646.2:c.5176C>T	1.37:g.120464896G>A	ENSP00000256646:p.Arg1726Cys						p.R1726C	NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)	28	5395	-	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)	1726					Q5T3X7|Q99734|Q9H240	Missense_Mutation	SNP	ENST00000256646.2	37	c.5176C>T	CCDS908.1	.	.	.	.	.	.	.	.	.	.	G	24.4	4.532466	0.85812	.	.	ENSG00000134250	ENST00000256646	D	0.85088	-1.94	5.44	5.44	0.79542	.	0.196730	0.25135	U	0.032879	D	0.91280	0.7251	M	0.87827	2.91	0.80722	D	1	D	0.76494	0.999	P	0.57679	0.825	D	0.92348	0.5887	10	0.87932	D	0	.	18.6191	0.91315	0.0:0.0:1.0:0.0	.	1726	Q04721	NOTC2_HUMAN	C	1726	ENSP00000256646:R1726C	ENSP00000256646:R1726C	R	-	1	0	NOTCH2	120266419	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.356000	0.79445	2.715000	0.92844	0.655000	0.94253	CGT		0.488	NOTCH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033679.1	NM_024408		7	48	0	0	0	1	0	7	48					A	120464896	G	A	120464896	3	1	435	1	0	0	0	0	1	0	0	0	10548	1087	38	1	2267	1	NOTCH2	1	120464896	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	27651	120464896	128785725	518	21443											
NOTCH2	4853	broad.mit.edu	37	chr1	120484202	120484202	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tggactccatcaaatcctgcCtggcacttgcaagtgtaact	10	11	8	12	0	1	0	1	0	0	0	3	1	3	1	3	2	3	3	3	2	3	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:120484202C>A	ENST00000256646.2	-	18	3147	c.2928G>T	c.(2926-2928)caG>caT	p.Q976H		NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2	976	EGF-like 25; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				apoptotic process (GO:0006915)|atrial septum morphogenesis (GO:0060413)|bone remodeling (GO:0046849)|cell cycle arrest (GO:0007050)|cell fate determination (GO:0001709)|cell growth (GO:0016049)|ciliary body morphogenesis (GO:0061073)|determination of left/right symmetry (GO:0007368)|embryonic limb morphogenesis (GO:0030326)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|humoral immune response (GO:0006959)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|intracellular receptor signaling pathway (GO:0030522)|morphogenesis of an epithelial sheet (GO:0002011)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|placenta blood vessel development (GO:0060674)|positive regulation of apoptotic process (GO:0043065)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation (GO:0008284)|positive regulation of Ras protein signal transduction (GO:0046579)|pulmonary valve morphogenesis (GO:0003184)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell surface (GO:0009986)|cilium (GO:0005929)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|ligand-activated RNA polymerase II transcription factor binding transcription factor activity (GO:0038049)|receptor activity (GO:0004872)			breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		CAAATCCTGCCTGGCACTTGC	0.498			"N, F, Mis"		"marginal zone lymphoma, DLBCL"				Alagille Syndrome																													ENST00000256646.2				Dom	yes		1	1p13-p11	4853	"N, F, Mis"	Notch homolog 2			L			"marginal zone lymphoma, DLBCL"		0				breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158						c.(2926-2928)caG>caT		notch 2							130	97	108					1																	120484202		2203	4300	6503	SO:0001583	missense	4853	Alagille Syndrome	Familial Cancer Database	ALGS1, ALGS2.Alagille-Watson syndrome	anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity	g.chr1:120484202C>A	AF315356	CCDS908.1	1p13-p11	2013-01-10	2010-06-24		ENSG00000134250	ENSG00000134250		"Ankyrin repeat domain containing"	7882	protein-coding gene	gene with protein product		600275	"Notch (Drosophila) homolog 2", "Notch homolog 2 (Drosophila)"			7698746	Standard	NM_001200001		Approved		uc001eik.3	Q04721	OTTHUMG00000012177	ENST00000256646.2:c.2928G>T	1.37:g.120484202C>A	ENSP00000256646:p.Gln976His						p.Q976H	NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)	18	3147	-	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)	976			EGF-like 25; calcium-binding (Potential).		Q5T3X7|Q99734|Q9H240	Missense_Mutation	SNP	ENST00000256646.2	37	c.2928G>T	CCDS908.1	.	.	.	.	.	.	.	.	.	.	C	17.85	3.491213	0.64074	.	.	ENSG00000134250	ENST00000256646	T	0.61158	0.13	6.08	2.02	0.26589	EGF (1);EGF-like region, conserved site (2);EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	0.838765	0.09736	U	0.762487	T	0.52008	0.1708	L	0.56340	1.77	0.35191	D	0.773347	P;P	0.47677	0.899;0.822	P;P	0.59171	0.853;0.549	T	0.46133	-0.9213	10	0.52906	T	0.07	.	6.7709	0.23593	0.2606:0.6059:0.0:0.1335	.	976;976	Q6IQ50;Q04721	.;NOTC2_HUMAN	H	976	ENSP00000256646:Q976H	ENSP00000256646:Q976H	Q	-	3	2	NOTCH2	120285725	0.000000	0.05858	0.899000	0.35326	0.991000	0.79684	-0.096000	0.11059	0.115000	0.18071	-0.218000	0.12543	CAG		0.498	NOTCH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033679.1	NM_024408		14	24	1	0	1.49906e-05	1	1.54943e-05	14	24					A	120484202	C	A	120484202	3	1	435	1	0	0	0	0	1	0	0	0	10548	680	24	5	4555	5	NOTCH2	1	120484202	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	19306	120484202	128766419	519	21444											
PDE4DIP	9659	broad.mit.edu	37	chr1	144857655	144857655	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtttctgagccaggagtagaGgaagcagagctggggaagac	12	6	17	6	0	1	4	0	1	1	3	1	7	1	7	1	4	3	4	1	4	3	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:144857655G>T	ENST00000369354.3	-	39	6588	c.6399C>A	c.(6397-6399)tcC>tcA	p.S2133S	PDE4DIP_ENST00000313382.9_Silent_p.S2027S|PDE4DIP_ENST00000530740.1_Silent_p.S2218S|RP4-791M13.4_ENST00000532137.1_RNA|PDE4DIP_ENST00000524974.1_5'UTR|PDE4DIP_ENST00000369356.4_Silent_p.S2133S|PDE4DIP_ENST00000369359.4_Silent_p.S2269S			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	2133					cellular protein complex assembly (GO:0043623)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|myofibril (GO:0030016)|nucleus (GO:0005634)	enzyme binding (GO:0019899)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		CAGGAGTAGAGGAAGCAGAGC	0.493			T	PDGFRB	MPD																																	ENST00000369359.4				Dom	yes		1	1q12	9659	T	phosphodiesterase 4D interacting protein (myomegalin)			L	PDGFRB		MPD		0				NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176						c.(6805-6807)tcC>tcA		phosphodiesterase 4D interacting protein							233	255	248					1																	144857655		2203	4296	6499	SO:0001819	synonymous_variant	9659				cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding	g.chr1:144857655G>T	AB007923, AB007946	CCDS72887.1, CCDS72888.1, CCDS72889.1, CCDS72890.1, CCDS72891.1, CCDS72892.1, CCDS72893.1, CCDS72894.1	1q21.1	2008-07-31	2008-07-31		ENSG00000178104	ENSG00000178104			15580	protein-coding gene	gene with protein product	"myomegalin"	608117	"cardiomyopathy associated 2"	CMYA2		9455484, 11134006	Standard	NM_022359		Approved	KIAA0477, KIAA0454, MMGL	uc021ouh.1	Q5VU43	OTTHUMG00000013846	ENST00000369354.3:c.6399C>A	1.37:g.144857655G>T						PDE4DIP_ENST00000530740.1_Silent_p.S2218S|PDE4DIP_ENST00000369354.3_Silent_p.S2133S|PDE4DIP_ENST00000313382.9_Silent_p.S2027S|PDE4DIP_ENST00000369356.4_Silent_p.S2133S|PDE4DIP_ENST00000524974.1_5'UTR	p.S2269S			Q5VU43	MYOME_HUMAN		Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)	42	6845	-			2133					A2RU15|O75042|O75065|Q2YDC1|Q5VU42|Q5VU44|Q5VU45|Q5VU46|Q5VU47|Q5VU48|Q5VU49|Q68DU2|Q6AZ93|Q6PK88|Q86T40|Q86TB2|Q8N3W0|Q8TAY9|Q9HCP2|Q9HCP3|Q9HCP4|Q9HCP5	Silent	SNP	ENST00000369354.3	37	c.6807C>A	CCDS30824.1	.	.	.	.	.	.	.	.	.	.	.	8.623	0.891926	0.17613	.	.	ENSG00000178104	ENST00000530130	.	.	.	4.75	-1.9	0.07665	.	.	.	.	.	T	0.08044	0.0201	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.36089	-0.9762	4	.	.	.	.	3.413	0.07365	0.2976:0.0:0.2806:0.4218	.	.	.	.	H	210	.	.	P	-	2	0	PDE4DIP	143569012	0.000000	0.05858	0.001000	0.08648	0.069000	0.16628	-0.307000	0.08167	-0.203000	0.10251	-1.274000	0.01402	CCT		0.493	PDE4DIP-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000038858.2	NM_022359		18	122	1	0	3.32936e-07	1	3.48341e-07	18	122					T	144857655	G	T	144857655	2	4	435	1	0	0	0	0	0	0	0	1	11643	987	35	5		5	PDE4DIP	1	144857655	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	24373453	144857655	104392966	520	21445											
PDE4DIP	9659	broad.mit.edu	37	chr1	144863353	144863353	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggaattgccataaagtgccTcgtagatttgtagctctgac	10	13	10	8	1	1	2	0	1	1	1	2	3	1	3	2	1	3	3	2	1	5	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:144863353T>C	ENST00000369354.3	-	37	6239	c.6050A>G	c.(6049-6051)gAg>gGg	p.E2017G	PDE4DIP_ENST00000313382.9_Missense_Mutation_p.E1911G|PDE4DIP_ENST00000530740.1_Missense_Mutation_p.E2102G|RP4-791M13.4_ENST00000532137.1_RNA|PDE4DIP_ENST00000524974.1_5'UTR|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.E2017G|PDE4DIP_ENST00000369359.4_Missense_Mutation_p.E2153G			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	2017					cellular protein complex assembly (GO:0043623)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|myofibril (GO:0030016)|nucleus (GO:0005634)	enzyme binding (GO:0019899)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		ATAAAGTGCCTCGTAGATTTG	0.502			T	PDGFRB	MPD																																	ENST00000369359.4				Dom	yes		1	1q12	9659	T	phosphodiesterase 4D interacting protein (myomegalin)			L	PDGFRB		MPD		0				NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176						c.(6457-6459)gAg>gGg		phosphodiesterase 4D interacting protein							212	201	205					1																	144863353		2203	4300	6503	SO:0001583	missense	9659				cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding	g.chr1:144863353T>C	AB007923, AB007946	CCDS72887.1, CCDS72888.1, CCDS72889.1, CCDS72890.1, CCDS72891.1, CCDS72892.1, CCDS72893.1, CCDS72894.1	1q21.1	2008-07-31	2008-07-31		ENSG00000178104	ENSG00000178104			15580	protein-coding gene	gene with protein product	"myomegalin"	608117	"cardiomyopathy associated 2"	CMYA2		9455484, 11134006	Standard	NM_022359		Approved	KIAA0477, KIAA0454, MMGL	uc021ouh.1	Q5VU43	OTTHUMG00000013846	ENST00000369354.3:c.6050A>G	1.37:g.144863353T>C	ENSP00000358360:p.Glu2017Gly					PDE4DIP_ENST00000530740.1_Missense_Mutation_p.E2102G|RP4-791M13.4_ENST00000532137.1_RNA|PDE4DIP_ENST00000369354.3_Missense_Mutation_p.E2017G|PDE4DIP_ENST00000313382.9_Missense_Mutation_p.E1911G|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.E2017G|PDE4DIP_ENST00000524974.1_5'UTR	p.E2153G			Q5VU43	MYOME_HUMAN		Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)	40	6496	-			2017					A2RU15|O75042|O75065|Q2YDC1|Q5VU42|Q5VU44|Q5VU45|Q5VU46|Q5VU47|Q5VU48|Q5VU49|Q68DU2|Q6AZ93|Q6PK88|Q86T40|Q86TB2|Q8N3W0|Q8TAY9|Q9HCP2|Q9HCP3|Q9HCP4|Q9HCP5	Missense_Mutation	SNP	ENST00000369354.3	37	c.6458A>G	CCDS30824.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	32|32	5.134673|5.134673	0.94517|0.94517	.|.	.|.	ENSG00000178104|ENSG00000178104	ENST00000313382;ENST00000369354;ENST00000369356;ENST00000530740;ENST00000369359|ENST00000530130	T;T;T;T;T|.	0.02837|.	4.14;4.32;4.33;4.32;4.35|.	4.83|4.83	4.83|4.83	0.62350|0.62350	.|.	.|.	.|.	.|.	.|.	T|T	0.64994|0.64994	0.2649|0.2649	M|M	0.74881|0.74881	2.28|2.28	0.80722|0.80722	D|D	1|1	P;D|.	0.76494|.	0.944;0.999|.	P;D|.	0.77557|.	0.646;0.99|.	T|T	0.67461|0.67461	-0.5665|-0.5665	9|5	0.87932|.	D|.	0|.	.|.	12.6355|12.6355	0.56681|0.56681	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	1911;2017|.	Q5VU43-3;Q5VU43|.	.;MYOME_HUMAN|.	G|G	1911;2017;2017;2102;2153|174	ENSP00000327209:E1911G;ENSP00000358360:E2017G;ENSP00000358363:E2017G;ENSP00000435654:E2102G;ENSP00000358366:E2153G|.	ENSP00000327209:E1911G|.	E|R	-|-	2|1	0|2	PDE4DIP|PDE4DIP	143574710|143574710	0.997000|0.997000	0.39634|0.39634	0.393000|0.393000	0.26258|0.26258	0.841000|0.841000	0.47740|0.47740	4.031000|4.031000	0.57267|0.57267	1.948000|1.948000	0.56530|0.56530	0.397000|0.397000	0.26171|0.26171	GAG|AGG		0.502	PDE4DIP-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000038858.2	NM_022359		5	120	0	0	0	1	0	5	120					C	144863353	T	C	144863353	3	2	435	1	0	0	0	0	1	0	0	0	11643	1551	54	4	1022	4	PDE4DIP	1	144863353	Missense_Mutation	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	5698	144863353	104387268	521	21446											
PDE4DIP	9659	broad.mit.edu	37	chr1	144879390	144879390	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atctttgatgtcctttcgtaGgaccaagatgttttctgact	8	17	8	8	1	2	3	0	2	2	1	4	4	3	4	2	1	0	2	2	1	2	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:144879390G>T	ENST00000369354.3	-	27	4249	c.4060C>A	c.(4060-4062)Cta>Ata	p.L1354I	PDE4DIP_ENST00000313382.9_Missense_Mutation_p.L1310I|AL138796.1_ENST00000582173.1_RNA|PDE4DIP_ENST00000530740.1_Missense_Mutation_p.L1490I|PDE4DIP_ENST00000524974.1_5'UTR|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.L1354I|RP4-791M13.5_ENST00000531288.1_RNA|PDE4DIP_ENST00000369359.4_Missense_Mutation_p.L1490I			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	1354					cellular protein complex assembly (GO:0043623)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|myofibril (GO:0030016)|nucleus (GO:0005634)	enzyme binding (GO:0019899)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		TCCTTTCGTAGGACCAAGATG	0.502			T	PDGFRB	MPD																																	ENST00000369359.4				Dom	yes		1	1q12	9659	T	phosphodiesterase 4D interacting protein (myomegalin)			L	PDGFRB		MPD		0				NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176						c.(4468-4470)Cta>Ata		phosphodiesterase 4D interacting protein							204	226	219					1																	144879390		2203	4299	6502	SO:0001583	missense	9659				cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding	g.chr1:144879390G>T	AB007923, AB007946	CCDS72887.1, CCDS72888.1, CCDS72889.1, CCDS72890.1, CCDS72891.1, CCDS72892.1, CCDS72893.1, CCDS72894.1	1q21.1	2008-07-31	2008-07-31		ENSG00000178104	ENSG00000178104			15580	protein-coding gene	gene with protein product	"myomegalin"	608117	"cardiomyopathy associated 2"	CMYA2		9455484, 11134006	Standard	NM_022359		Approved	KIAA0477, KIAA0454, MMGL	uc021ouh.1	Q5VU43	OTTHUMG00000013846	ENST00000369354.3:c.4060C>A	1.37:g.144879390G>T	ENSP00000358360:p.Leu1354Ile					PDE4DIP_ENST00000530740.1_Missense_Mutation_p.L1490I|PDE4DIP_ENST00000369354.3_Missense_Mutation_p.L1354I|PDE4DIP_ENST00000313382.9_Missense_Mutation_p.L1310I|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.L1354I|PDE4DIP_ENST00000524974.1_5'UTR	p.L1490I			Q5VU43	MYOME_HUMAN		Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)	30	4506	-			1354					A2RU15|O75042|O75065|Q2YDC1|Q5VU42|Q5VU44|Q5VU45|Q5VU46|Q5VU47|Q5VU48|Q5VU49|Q68DU2|Q6AZ93|Q6PK88|Q86T40|Q86TB2|Q8N3W0|Q8TAY9|Q9HCP2|Q9HCP3|Q9HCP4|Q9HCP5	Missense_Mutation	SNP	ENST00000369354.3	37	c.4468C>A	CCDS30824.1	.	.	.	.	.	.	.	.	.	.	G	15.91	2.972711	0.53614	.	.	ENSG00000178104	ENST00000313382;ENST00000369354;ENST00000369356;ENST00000530740;ENST00000369359	T;T;T;T;T	0.08008	3.15;3.18;3.14;3.18;3.23	5.08	5.08	0.68730	.	.	.	.	.	T	0.20129	0.0484	M	0.66939	2.045	0.80722	D	1	D;P	0.89917	1.0;0.915	D;P	0.83275	0.996;0.519	T	0.00226	-1.1900	9	0.72032	D	0.01	.	16.0791	0.80989	0.0:0.0:1.0:0.0	.	1310;1354	Q5VU43-3;Q5VU43	.;MYOME_HUMAN	I	1310;1354;1354;1490;1490	ENSP00000327209:L1310I;ENSP00000358360:L1354I;ENSP00000358363:L1354I;ENSP00000435654:L1490I;ENSP00000358366:L1490I	ENSP00000327209:L1310I	L	-	1	2	PDE4DIP	143590747	1.000000	0.71417	0.681000	0.30009	0.058000	0.15608	4.641000	0.61375	2.659000	0.90383	0.650000	0.86243	CTA		0.502	PDE4DIP-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000038858.2	NM_022359		77	288	1	0	1.88935e-48	1	2.1248e-48	77	288					T	144879390	G	T	144879390	3	4	435	1	0	0	0	0	1	0	0	0	11643	991	35	5	3052	5	PDE4DIP	1	144879390	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	16037	144879390	104371231	522	21447											
PDE4DIP	9659	broad.mit.edu	37	chr1	144911932	144911932	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctttggcagtcaatgaagtgCtatcatctctggaaggtatc	10	13	10	8	0	3	1	2	1	1	0	5	2	3	2	0	3	1	3	0	3	5	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:144911932C>A	ENST00000369354.3	-	16	2366	c.2177G>T	c.(2176-2178)aGc>aTc	p.S726I	PDE4DIP_ENST00000369351.3_Missense_Mutation_p.S726I|PDE4DIP_ENST00000369349.3_Missense_Mutation_p.S726I|PDE4DIP_ENST00000529945.1_Missense_Mutation_p.S889I|PDE4DIP_ENST00000313382.9_Missense_Mutation_p.S792I|PDE4DIP_ENST00000530740.1_Missense_Mutation_p.S863I|PDE4DIP_ENST00000479408.2_Missense_Mutation_p.S513I|PDE4DIP_ENST00000524974.1_5'Flank|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.S726I|PDE4DIP_ENST00000313431.9_Missense_Mutation_p.S889I|PDE4DIP_ENST00000369359.4_Missense_Mutation_p.S863I			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	726					cellular protein complex assembly (GO:0043623)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|myofibril (GO:0030016)|nucleus (GO:0005634)	enzyme binding (GO:0019899)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		CAATGAAGTGCTATCATCTCT	0.383			T	PDGFRB	MPD																																	ENST00000529945.1				Dom	yes		1	1q12	9659	T	phosphodiesterase 4D interacting protein (myomegalin)			L	PDGFRB		MPD		0				NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176						c.(2665-2667)aGc>aTc		phosphodiesterase 4D interacting protein							238	221	227					1																	144911932		2203	4300	6503	SO:0001583	missense	9659				cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding	g.chr1:144911932C>A	AB007923, AB007946	CCDS72887.1, CCDS72888.1, CCDS72889.1, CCDS72890.1, CCDS72891.1, CCDS72892.1, CCDS72893.1, CCDS72894.1	1q21.1	2008-07-31	2008-07-31		ENSG00000178104	ENSG00000178104			15580	protein-coding gene	gene with protein product	"myomegalin"	608117	"cardiomyopathy associated 2"	CMYA2		9455484, 11134006	Standard	NM_022359		Approved	KIAA0477, KIAA0454, MMGL	uc021ouh.1	Q5VU43	OTTHUMG00000013846	ENST00000369354.3:c.2177G>T	1.37:g.144911932C>A	ENSP00000358360:p.Ser726Ile					PDE4DIP_ENST00000530740.1_Missense_Mutation_p.S863I|PDE4DIP_ENST00000313431.9_Missense_Mutation_p.S889I|PDE4DIP_ENST00000369351.3_Missense_Mutation_p.S726I|PDE4DIP_ENST00000369354.3_Missense_Mutation_p.S726I|PDE4DIP_ENST00000369359.4_Missense_Mutation_p.S863I|PDE4DIP_ENST00000479408.2_Missense_Mutation_p.S513I|PDE4DIP_ENST00000313382.9_Missense_Mutation_p.S792I|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.S726I|PDE4DIP_ENST00000369349.3_Missense_Mutation_p.S726I	p.S889I			Q5VU43	MYOME_HUMAN		Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)	12	3105	-			726					A2RU15|O75042|O75065|Q2YDC1|Q5VU42|Q5VU44|Q5VU45|Q5VU46|Q5VU47|Q5VU48|Q5VU49|Q68DU2|Q6AZ93|Q6PK88|Q86T40|Q86TB2|Q8N3W0|Q8TAY9|Q9HCP2|Q9HCP3|Q9HCP4|Q9HCP5	Missense_Mutation	SNP	ENST00000369354.3	37	c.2666G>T	CCDS30824.1	.	.	.	.	.	.	.	.	.	.	C	7.367	0.625949	0.14257	.	.	ENSG00000178104	ENST00000313382;ENST00000369354;ENST00000369356;ENST00000369353;ENST00000530740;ENST00000369359;ENST00000369351;ENST00000369349;ENST00000313431;ENST00000529945;ENST00000479408	T;T;T;T;T;T;T;T;T;T	0.12984	4.62;4.71;4.71;4.71;4.71;3.72;3.73;2.65;2.65;2.63	5.53	1.01	0.19927	.	.	.	.	.	T	0.02767	0.0083	N	0.19112	0.55	0.09310	N	1	B;B;B;B;P;B	0.43352	0.296;0.191;0.145;0.397;0.804;0.121	B;B;B;B;B;B	0.42738	0.079;0.146;0.054;0.156;0.396;0.043	T	0.35201	-0.9798	9	0.46703	T	0.11	.	1.3435	0.02159	0.228:0.446:0.1446:0.1813	.	889;513;726;889;792;726	E9PL24;E9PQG4;Q5VU43-7;Q5VU43-2;Q5VU43-3;Q5VU43	.;.;.;.;.;MYOME_HUMAN	I	792;726;726;889;863;863;726;726;889;889;513	ENSP00000327209:S792I;ENSP00000358360:S726I;ENSP00000358363:S726I;ENSP00000435654:S863I;ENSP00000358366:S863I;ENSP00000358357:S726I;ENSP00000358355:S726I;ENSP00000316434:S889I;ENSP00000433392:S889I;ENSP00000436791:S513I	ENSP00000327209:S792I	S	-	2	0	PDE4DIP	143623289	0.000000	0.05858	0.010000	0.14722	0.267000	0.26476	-0.223000	0.09177	0.726000	0.32339	0.650000	0.86243	AGC		0.383	PDE4DIP-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000038858.2	NM_022359		26	139	1	0	1.08312e-15	1	1.18619e-15	26	139					A	144911932	C	A	144911932	3	1	435	1	0	0	0	0	1	0	0	0	11643	797	28	5	4989	5	PDE4DIP	1	144911932	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	32542	144911932	104338689	523	21448											
PDE4DIP	9659	broad.mit.edu	37	chr1	145075750	145075750	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gccgtggggactgaggggttCgcgtcgcgtccccggaccgg	3	6	19	13	7	0	1	0	1	0	0	3	3	1	3	4	6	0	1	4	6	0	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:145075750C>T	ENST00000530740.1	-	1	151	c.113G>A	c.(112-114)cGa>cAa	p.R38Q	PDE4DIP_ENST00000369345.4_Missense_Mutation_p.R38Q|PDE4DIP_ENST00000369348.3_Missense_Mutation_p.R38Q|PDE4DIP_ENST00000369359.4_Missense_Mutation_p.R38Q			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	0					cellular protein complex assembly (GO:0043623)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|myofibril (GO:0030016)|nucleus (GO:0005634)	enzyme binding (GO:0019899)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		CTGAGGGGTTCGCGTCGCGTC	0.731			T	PDGFRB	MPD																																	ENST00000369359.4				Dom	yes		1	1q12	9659	T	phosphodiesterase 4D interacting protein (myomegalin)			L	PDGFRB		MPD		0				NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176						c.(112-114)cGa>cAa		phosphodiesterase 4D interacting protein							41	53	49					1																	145075750		2203	4298	6501	SO:0001583	missense	9659				cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding	g.chr1:145075750C>T	AB007923, AB007946	CCDS72887.1, CCDS72888.1, CCDS72889.1, CCDS72890.1, CCDS72891.1, CCDS72892.1, CCDS72893.1, CCDS72894.1	1q21.1	2008-07-31	2008-07-31		ENSG00000178104	ENSG00000178104			15580	protein-coding gene	gene with protein product	"myomegalin"	608117	"cardiomyopathy associated 2"	CMYA2		9455484, 11134006	Standard	NM_022359		Approved	KIAA0477, KIAA0454, MMGL	uc021ouh.1	Q5VU43	OTTHUMG00000013846	ENST00000530740.1:c.113G>A	1.37:g.145075750C>T	ENSP00000435654:p.Arg38Gln					PDE4DIP_ENST00000530740.1_Missense_Mutation_p.R38Q|PDE4DIP_ENST00000369345.4_Missense_Mutation_p.R38Q|PDE4DIP_ENST00000369348.3_Missense_Mutation_p.R38Q	p.R38Q			Q5VU43	MYOME_HUMAN		Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)	1	151	-			0					A2RU15|O75042|O75065|Q2YDC1|Q5VU42|Q5VU44|Q5VU45|Q5VU46|Q5VU47|Q5VU48|Q5VU49|Q68DU2|Q6AZ93|Q6PK88|Q86T40|Q86TB2|Q8N3W0|Q8TAY9|Q9HCP2|Q9HCP3|Q9HCP4|Q9HCP5	Missense_Mutation	SNP	ENST00000530740.1	37	c.113G>A		.	.	.	.	.	.	.	.	.	.	C	13.52	2.262777	0.39995	.	.	ENSG00000178104	ENST00000530740;ENST00000369359;ENST00000369348;ENST00000369345	T;T;T	0.16196	3.68;3.65;2.36	3.4	-2.83	0.05769	.	.	.	.	.	T	0.02267	0.0070	N	0.19112	0.55	0.09310	N	1	B;B	0.34181	0.44;0.005	B;B	0.16722	0.016;0.001	T	0.39941	-0.9589	9	0.87932	D	0	.	4.0227	0.09673	0.0:0.3113:0.3466:0.3422	.	38;38	Q5TB27;E9PJ64	.;.	Q	38	ENSP00000435654:R38Q;ENSP00000358366:R38Q;ENSP00000358354:R38Q	ENSP00000358351:R38Q	R	-	2	0	PDE4DIP	143787107	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.657000	0.05335	-0.337000	0.08426	0.511000	0.50034	CGA		0.731	PDE4DIP-036	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000384663.2	NM_022359		4	57	0	0	0	1	0	4	57					T	145075750	C	T	145075750	3	4	435	1	0	0	0	0	1	0	0	0	11643	884	31	2	8699	2	PDE4DIP	1	145075750	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	163818	145075750	104174871	524	21449											
NBPF10	100132406	broad.mit.edu	37	chr1	145293504	145293504	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagctggcagagaagaaacaGcagttcagaaacctcaaaga	18	4	10	9	0	2	4	2	0	0	4	2	5	2	4	1	1	4	4	1	1	4	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:145293504G>T	ENST00000369339.3	+	3	352	c.99G>T	c.(97-99)caG>caT	p.Q33H	NBPF10_ENST00000369338.1_Intron|RP11-458D21.5_ENST00000468030.1_3'UTR|NBPF10_ENST00000342960.5_Missense_Mutation_p.Q33H			Q6P3W6	NBPFA_HUMAN	neuroblastoma breakpoint family, member 10	304						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		AGAAGAAACAGCAGTTCAGAA	0.488																																						ENST00000342960.5																			0				NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73						c.(97-99)caG>caT		neuroblastoma breakpoint family, member 10																																				SO:0001583	missense	100132406							g.chr1:145293504G>T	BC021111		1q21.1	2013-01-17			ENSG00000163386	ENSG00000271425		"neuroblastoma breakpoint family"	31992	protein-coding gene	gene with protein product		614000				16079250	Standard	NM_001039703		Approved	AG1		Q6P3W6	OTTHUMG00000013757	ENST00000369339.3:c.99G>T	1.37:g.145293504G>T	ENSP00000358345:p.Gln33His					NBPF10_ENST00000369339.2_Missense_Mutation_p.Q33H|RP11-458D21.5_ENST00000468030.1_3'UTR|NBPF10_ENST00000369338.1_Intron	p.Q33H	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN		Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	1	134	+	all_hematologic(923;0.032)		33					Q5RHC0|Q9NWN6	Missense_Mutation	SNP	ENST00000369339.3	37	c.99G>T		.	.	.	.	.	.	.	.	.	.	.	11.74	1.727700	0.30593	.	.	ENSG00000163386	ENST00000369339;ENST00000342960	T	0.03689	3.84	1.06	1.06	0.20224	.	.	.	.	.	T	0.05135	0.0137	M	0.84326	2.69	0.09310	N	1	D	0.58620	0.983	P	0.54856	0.762	T	0.22661	-1.0210	9	0.87932	D	0	.	5.5112	0.16882	0.0:0.0:1.0:0.0	.	33	A8MQ30	.	H	33	ENSP00000345684:Q33H	ENSP00000345684:Q33H	Q	+	3	2	NBPF10	144004861	0.016000	0.18221	0.002000	0.10522	0.018000	0.09664	0.957000	0.29215	0.869000	0.35703	0.184000	0.17185	CAG		0.488	NBPF10-001	KNOWN	not_best_in_genome_evidence|basic	protein_coding	protein_coding	OTTHUMT00000038550.3	NM_001039703		77	540	1	0	1.68508e-47	1	1.89485e-47	77	540					T	145293504	G	T	145293504	3	4	435	1	0	0	0	0	1	0	0	0	10193	962	34	5	101	5	NBPF10	1	145293504	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	217754	145293504	103957117	525	21450											
NBPF10	100132406	broad.mit.edu	37	chr1	145299937	145299937	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggccaaccaacagaagaaatAcagtaagatctataggctca	18	6	8	9	0	2	3	1	0	1	3	2	3	2	3	2	2	3	2	2	2	8	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:145299937A>G	ENST00000369338.1	+	2	363	c.173A>G	c.(172-174)tAc>tGc	p.Y58C	RP11-458D21.5_ENST00000468030.1_3'UTR|NBPF10_ENST00000342960.5_Missense_Mutation_p.Y329C|NBPF10_ENST00000369339.3_Intron			Q6P3W6	NBPFA_HUMAN	neuroblastoma breakpoint family, member 10	329						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		CAGAAGAAATACAGTAAGATC	0.423																																						ENST00000342960.5																			0				NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73						c.(985-987)tAc>tGc		neuroblastoma breakpoint family, member 10							55	38	43					1																	145299937		692	1591	2283	SO:0001583	missense	100132406							g.chr1:145299937A>G	BC021111		1q21.1	2013-01-17			ENSG00000163386	ENSG00000271425		"neuroblastoma breakpoint family"	31992	protein-coding gene	gene with protein product		614000				16079250	Standard	NM_001039703		Approved	AG1		Q6P3W6	OTTHUMG00000013757	ENST00000369338.1:c.173A>G	1.37:g.145299937A>G	ENSP00000358344:p.Tyr58Cys					NBPF10_ENST00000369339.2_Intron|RP11-458D21.5_ENST00000468030.1_3'UTR|NBPF10_ENST00000369338.1_Missense_Mutation_p.Y58C	p.Y329C	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN		Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	6	1021	+	all_hematologic(923;0.032)		329					Q5RHC0|Q9NWN6	Missense_Mutation	SNP	ENST00000369338.1	37	c.986A>G		.	.	.	.	.	.	.	.	.	.	.	3.314	-0.140247	0.06669	.	.	ENSG00000163386	ENST00000448873;ENST00000369338;ENST00000369334;ENST00000342960	T;T	0.09630	2.96;3.63	0.982	-0.457	0.12186	.	.	.	.	.	T	0.12518	0.0304	M	0.74467	2.265	0.09310	N	1	D	0.71674	0.998	D	0.69824	0.966	T	0.06285	-1.0835	9	0.66056	D	0.02	.	3.6528	0.08210	0.5871:0.4129:0.0:0.0	.	58	Q86T75-2	.	C	254;58;58;329	ENSP00000358344:Y58C;ENSP00000345684:Y329C	ENSP00000345684:Y329C	Y	+	2	0	NBPF10	144011294	0.079000	0.21365	0.002000	0.10522	0.005000	0.04900	0.692000	0.25482	-0.143000	0.11334	0.138000	0.15974	TAC		0.423	NBPF10-003	KNOWN	not_best_in_genome_evidence|basic	protein_coding	protein_coding	OTTHUMT00000038552.1	NM_001039703		63	134	0	0	0	1	0	63	134					G	145299937	A	G	145299937	3	3	435	1	0	0	0	0	1	0	0	0	10193	391	14	4	1008	4	NBPF10	1	145299937	Missense_Mutation	SNP	A	TCGA-XK-AAIW-01A-11D-A41K-08	6433	145299937	103950684	526	21451											
NBPF10	100132406	broad.mit.edu	37	chr1	145311109	145311109	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaatttatttgcaggacatcGgtgggatcaagtgaaaaagg	14	10	13	4	1	1	1	1	1	0	0	2	4	1	3	0	4	1	1	0	4	5	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:145311109G>A	ENST00000369339.3	+	10	1248	c.995G>A	c.(994-996)cGg>cAg	p.R332Q	NBPF10_ENST00000369338.1_Missense_Mutation_p.R332Q|RP11-458D21.5_ENST00000468030.1_3'UTR|NBPF10_ENST00000342960.5_Missense_Mutation_p.R603Q			Q6P3W6	NBPFA_HUMAN	neuroblastoma breakpoint family, member 10	603						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		GCAGGACATCGGTGGGATCAA	0.448																																						ENST00000342960.5																			0				NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73						c.(1807-1809)cGg>cAg		neuroblastoma breakpoint family, member 10							152	126	134					1																	145311109		692	1591	2283	SO:0001583	missense	100132406							g.chr1:145311109G>A	BC021111		1q21.1	2013-01-17			ENSG00000163386	ENSG00000271425		"neuroblastoma breakpoint family"	31992	protein-coding gene	gene with protein product		614000				16079250	Standard	NM_001039703		Approved	AG1		Q6P3W6	OTTHUMG00000013757	ENST00000369339.3:c.995G>A	1.37:g.145311109G>A	ENSP00000358345:p.Arg332Gln					NBPF10_ENST00000369339.2_Missense_Mutation_p.R332Q|RP11-458D21.5_ENST00000468030.1_3'UTR|NBPF10_ENST00000369338.1_Missense_Mutation_p.R332Q	p.R603Q	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN		Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	13	1843	+	all_hematologic(923;0.032)		603					Q5RHC0|Q9NWN6	Missense_Mutation	SNP	ENST00000369339.3	37	c.1808G>A		.	.	.	.	.	.	.	.	.	.	.	0.817	-0.749848	0.03041	.	.	ENSG00000163386	ENST00000369339;ENST00000448873;ENST00000369338;ENST00000369364;ENST00000342960	T;T	0.03330	4.03;3.97	0.429	0.429	0.16506	.	.	.	.	.	T	0.00754	0.0025	N	0.14661	0.345	0.09310	N	1	D	0.56746	0.977	P	0.47075	0.536	T	0.33292	-0.9874	8	0.20046	T	0.44	.	.	.	.	.	278	Q4VC10	.	Q	334;528;332;9;603	ENSP00000358344:R332Q;ENSP00000345684:R603Q	ENSP00000345684:R603Q	R	+	2	0	NBPF10	144022466	0.001000	0.12720	0.003000	0.11579	0.016000	0.09150	-0.590000	0.05760	-1.011000	0.03391	-1.514000	0.00941	CGG		0.448	NBPF10-001	KNOWN	not_best_in_genome_evidence|basic	protein_coding	protein_coding	OTTHUMT00000038550.3	NM_001039703		34	430	0	0	0	1	0	34	430					A	145311109	G	A	145311109	3	1	435	1	0	0	0	0	1	0	0	0	10193	1116	39	2	1858	2	NBPF10	1	145311109	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	11172	145311109	103939512	527	21452											
HFE2	148738	broad.mit.edu	37	chr1	145416688	145416688	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taaccattgatactgccagaCggctgtgcaaggaagggctt	11	9	12	9	1	0	2	0	1	0	1	0	3	0	3	2	3	4	3	2	3	4	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:145416688C>T	ENST00000336751.5	+	4	1271	c.1033C>T	c.(1033-1035)Cgg>Tgg	p.R345W	HFE2_ENST00000357836.5_Missense_Mutation_p.R232W|HFE2_ENST00000497365.1_Missense_Mutation_p.R119W|HFE2_ENST00000475797.1_Missense_Mutation_p.R119W	NM_213653.3	NP_998818.1	Q6ZVN8	RGMC_HUMAN	hemochromatosis type 2 (juvenile)	345					axon guidance (GO:0007411)|BMP signaling pathway (GO:0030509)|iron ion homeostasis (GO:0055072)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	coreceptor activity (GO:0015026)			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)	14	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					TACTGCCAGACGGCTGTGCAA	0.522																																						ENST00000336751.5																			0				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)	14						c.(1033-1035)Cgg>Tgg		hemochromatosis type 2 (juvenile)							131	121	124					1																	145416688		2203	4300	6503	SO:0001583	missense	148738				axon guidance	anchored to membrane		g.chr1:145416688C>T	AY372521	CCDS72877.1, CCDS72878.1, CCDS72879.1	1q21.2	2014-06-26			ENSG00000168509	ENSG00000168509			4887	protein-coding gene	gene with protein product	"repulsive guidance molecule c"	608374				10205270, 14647275	Standard	NM_213653		Approved	JH, HFE2A, RGMC, HJV, hemojuvelin, haemojuvelin	uc001eni.2	Q6ZVN8	OTTHUMG00000013748	ENST00000336751.5:c.1033C>T	1.37:g.145416688C>T	ENSP00000337014:p.Arg345Trp					HFE2_ENST00000475797.1_Missense_Mutation_p.R119W|HFE2_ENST00000357836.5_Missense_Mutation_p.R232W|HFE2_ENST00000497365.1_Missense_Mutation_p.R119W	p.R345W	NM_213653.3	NP_998818.1	Q6ZVN8	RGMC_HUMAN			4	1271	+	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		345					B1ALI7|Q2PQ63|Q6IMF6|Q8NAH2|Q8WVJ5	Missense_Mutation	SNP	ENST00000336751.5	37	c.1033C>T	CCDS910.1	.	.	.	.	.	.	.	.	.	.	C	14.38	2.518923	0.44866	.	.	ENSG00000168509	ENST00000357836;ENST00000336751;ENST00000497365;ENST00000475797	D;D;D;D	0.84800	-1.9;-1.9;-1.9;-1.9	5.44	2.4	0.29515	Repulsive guidance molecule, C-terminal (1);	0.831048	0.10717	N	0.642180	T	0.65585	0.2705	L	0.29908	0.895	0.09310	N	1	D	0.54047	0.964	P	0.47075	0.536	T	0.60073	-0.7334	10	0.66056	D	0.02	-21.908	3.347	0.07139	0.33:0.4373:0.1496:0.0831	.	345	Q6ZVN8	RGMC_HUMAN	W	232;345;119;119	ENSP00000350495:R232W;ENSP00000337014:R345W;ENSP00000421820:R119W;ENSP00000425716:R119W	ENSP00000337014:R345W	R	+	1	2	HFE2	144128045	0.002000	0.14202	0.624000	0.29186	0.535000	0.34838	0.838000	0.27572	0.352000	0.24053	-0.182000	0.12963	CGG		0.522	HFE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038527.1	NM_145277		13	24	0	0	0	1	0	13	24					T	145416688	C	T	145416688	3	4	435	1	0	0	0	0	1	0	0	0	7082	527	19	1	1043	1	HFE2	1	145416688	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	105579	145416688	103833933	528	21453											
TXNIP	10628	broad.mit.edu	37	chr1	145438944	145438944	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tcaaagccgttaggatcctgGcttgcggagtggctaaagtg	9	10	14	8	2	1	0	1	0	0	0	2	2	2	2	2	4	2	3	2	4	4	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:145438944G>T	ENST00000369317.4	+	1	476	c.142G>T	c.(142-144)Gct>Tct	p.A48S	TXNIP_ENST00000475171.1_Intron	NM_006472.3	NP_006463.3	Q9H3M7	TXNIP_HUMAN	thioredoxin interacting protein	48					cell cycle (GO:0007049)|cellular response to tumor cell (GO:0071228)|innate immune response (GO:0045087)|keratinocyte differentiation (GO:0030216)|negative regulation of cell division (GO:0051782)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|protein import into nucleus (GO:0006606)|regulation of cell proliferation (GO:0042127)|response to calcium ion (GO:0051592)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to glucose (GO:0009749)|response to hydrogen peroxide (GO:0042542)|response to mechanical stimulus (GO:0009612)|response to progesterone (GO:0032570)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrial intermembrane space (GO:0005758)|nucleus (GO:0005634)	enzyme inhibitor activity (GO:0004857)|ubiquitin protein ligase binding (GO:0031625)			breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(1)|lung(5)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	21	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					TAGGATCCTGGCTTGCGGAGT	0.542																																						ENST00000369317.4																			0				breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(1)|lung(5)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	21						c.(142-144)Gct>Tct		thioredoxin interacting protein							143	128	133					1																	145438944		2203	4300	6503	SO:0001583	missense	10628				cell cycle|keratinocyte differentiation|transcription, DNA-dependent		ubiquitin protein ligase binding	g.chr1:145438944G>T	S73591	CCDS72876.1	1q11	2008-07-18			ENSG00000117289	ENSG00000265972			16952	protein-coding gene	gene with protein product	"upregulated by 1,25-dihydroxyvitamin D-3", "thioredoxin binding protein 2"	606599				8086474	Standard	NM_006472		Approved	VDUP1, EST01027, HHCPA78, THIF	uc001enn.4	Q9H3M7	OTTHUMG00000013755	ENST00000369317.4:c.142G>T	1.37:g.145438944G>T	ENSP00000358323:p.Ala48Ser					TXNIP_ENST00000475171.1_Intron	p.A48S	NM_006472.3	NP_006463.3	Q9H3M7	TXNIP_HUMAN			1	476	+	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		48					B4E3D3|Q16226|Q6PML0|Q9BXG9	Missense_Mutation	SNP	ENST00000369317.4	37	c.142G>T	CCDS913.1	.	.	.	.	.	.	.	.	.	.	G	35	5.569336	0.96540	.	.	ENSG00000117289	ENST00000369317	T	0.14391	2.51	5.74	5.74	0.90152	Immunoglobulin E-set (1);Arrestin-like, N-terminal (1);	0.231325	0.42682	D	0.000670	T	0.12433	0.0302	L	0.61036	1.89	0.58432	D	0.999994	P	0.43826	0.818	B	0.41299	0.353	T	0.01074	-1.1460	10	0.66056	D	0.02	-16.8584	17.4057	0.87473	0.0:0.0:1.0:0.0	.	48	Q9H3M7	TXNIP_HUMAN	S	48	ENSP00000358323:A48S	ENSP00000358323:A48S	A	+	1	0	TXNIP	144150301	1.000000	0.71417	1.000000	0.80357	0.861000	0.49209	8.980000	0.93460	2.722000	0.93159	0.655000	0.94253	GCT		0.542	TXNIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038547.1	NM_006472		25	24	1	0	7.41945e-09	1	7.84611e-09	25	24					T	145438944	G	T	145438944	3	4	435	1	0	0	0	0	1	0	0	0	16800	1203	42	5	144	5	TXNIP	1	145438944	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	22256	145438944	103811677	529	21454											
PEX11B	8799	broad.mit.edu	37	chr1	145522818	145522818	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcctctggacaaactaggcCtctggcgctgtggccctggg	5	10	13	13	1	2	0	0	0	2	0	3	1	3	1	3	5	1	1	3	5	2	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:145522818C>T	ENST00000369306.3	+	4	828	c.679C>T	c.(679-681)Ctc>Ttc	p.L227F	ITGA10_ENST00000539363.1_5'Flank|ITGA10_ENST00000369304.3_5'Flank|ITGA10_ENST00000538811.1_5'Flank|PEX11B_ENST00000537888.1_Missense_Mutation_p.L213F	NM_003846.2	NP_003837.1	O96011	PX11B_HUMAN	peroxisomal biogenesis factor 11 beta	227	Interaction with PEX19 and peroxisome targeting.				peroxisome fission (GO:0016559)|peroxisome organization (GO:0007031)|protein homooligomerization (GO:0051260)|regulation of peroxisome size (GO:0044375)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of peroxisomal membrane (GO:0005779)|membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)|protein complex (GO:0043234)	protein homodimerization activity (GO:0042803)			breast(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1)	7	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					CAAACTAGGCCTCTGGCGCTG	0.557																																						ENST00000369306.3																			0				breast(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1)	7						c.(679-681)Ctc>Ttc		peroxisomal biogenesis factor 11 beta							152	131	138					1																	145522818		2203	4300	6503	SO:0001583	missense	8799				peroxisome fission|signal transduction	integral to peroxisomal membrane	protein binding	g.chr1:145522818C>T	AF093670	CCDS72870.1, CCDS72871.1	1q21	2008-08-26	2008-08-26		ENSG00000131779	ENSG00000131779			8853	protein-coding gene	gene with protein product		603867	"peroxisomal biogenesis factor 11B"			9792670	Standard	NM_003846		Approved		uc001eny.2	O96011	OTTHUMG00000013756	ENST00000369306.3:c.679C>T	1.37:g.145522818C>T	ENSP00000358312:p.Leu227Phe					PEX11B_ENST00000537888.1_Missense_Mutation_p.L213F	p.L227F	NM_003846.2	NP_003837.1	O96011	PX11B_HUMAN			4	828	+	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		227			Interaction with PEX19 and peroxisome targeting.		B3KN85|B4DXH9|Q96ET2	Missense_Mutation	SNP	ENST00000369306.3	37	c.679C>T	CCDS917.1	.	.	.	.	.	.	.	.	.	.	C	25.3	4.624361	0.87560	.	.	ENSG00000131779	ENST00000369306;ENST00000537888;ENST00000428634	T;T;T	0.45276	0.9;0.9;0.9	5.44	5.44	0.79542	.	0.064066	0.64402	D	0.000007	T	0.47838	0.1467	L	0.46157	1.445	0.51767	D	0.999933	D;D	0.69078	0.997;0.994	D;D	0.66979	0.948;0.948	T	0.18272	-1.0342	10	0.33940	T	0.23	-10.5682	16.8052	0.85625	0.0:1.0:0.0:0.0	.	213;227	B4DXH9;O96011	.;PX11B_HUMAN	F	227;213;49	ENSP00000358312:L227F;ENSP00000437510:L213F;ENSP00000414018:L49F	ENSP00000358312:L227F	L	+	1	0	PEX11B	144234175	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.894000	0.48640	2.832000	0.97577	0.655000	0.94253	CTC		0.557	PEX11B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038549.1	NM_003846		14	78	0	0	0	1	0	14	78					T	145522818	C	T	145522818	3	4	435	1	0	0	0	0	1	0	0	0	11738	681	24	3	711	3	PEX11B	1	145522818	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	83874	145522818	103727803	530	21455											
ITGA10	8515	broad.mit.edu	37	chr1	145528630	145528630	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttcagttctgggatatgtGcccgtgtggatgcttcattc	5	16	11	9	1	4	0	2	0	2	0	5	2	4	2	1	2	2	2	1	2	1	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:145528630G>A	ENST00000369304.3	+	5	602	c.427G>A	c.(427-429)Gcc>Acc	p.A143T	ITGA10_ENST00000539363.1_Intron|ITGA10_ENST00000538811.1_Intron	NM_003637.3	NP_003628.2	O75578	ITA10_HUMAN	integrin, alpha 10	143					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)	integrin alpha10-beta1 complex (GO:0034680)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	collagen binding (GO:0005518)|collagen binding involved in cell-matrix adhesion (GO:0098639)|metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					TGGGATATGTGCCCGTGTGGA	0.582																																						ENST00000369304.3																			0				NS(1)|breast(2)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59						c.(427-429)Gcc>Acc		integrin, alpha 10							129	117	121					1																	145528630		2203	4300	6503	SO:0001583	missense	8515				cell-matrix adhesion|integrin-mediated signaling pathway	integrin complex	collagen binding|receptor activity	g.chr1:145528630G>A	AF074015	CCDS72869.1	1q21.1	2010-03-23			ENSG00000143127	ENSG00000143127		"Integrins"	6135	protein-coding gene	gene with protein product		604042				9685391, 10702680	Standard	NM_003637		Approved		uc001eoa.3	O75578	OTTHUMG00000013751	ENST00000369304.3:c.427G>A	1.37:g.145528630G>A	ENSP00000358310:p.Ala143Thr					ITGA10_ENST00000538811.1_Intron|ITGA10_ENST00000539363.1_Intron	p.A143T	NM_003637.3	NP_003628.2	O75578	ITA10_HUMAN			5	602	+	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		143					B2RAM4|B2RTV5|Q6UXJ6|Q9UHZ8	Missense_Mutation	SNP	ENST00000369304.3	37	c.427G>A	CCDS918.1	.	.	.	.	.	.	.	.	.	.	G	16.03	3.006219	0.54361	.	.	ENSG00000143127	ENST00000369304;ENST00000543043	T	0.56941	0.43	5.13	2.25	0.28309	.	0.000000	0.64402	D	0.000001	T	0.26919	0.0659	L	0.44542	1.39	0.80722	D	1	P;B	0.40302	0.712;0.402	B;B	0.42692	0.395;0.17	T	0.10543	-1.0625	10	0.52906	T	0.07	.	3.5386	0.07803	0.2779:0.0:0.5458:0.1763	.	109;143	F5H3T9;O75578	.;ITA10_HUMAN	T	143;109	ENSP00000358310:A143T	ENSP00000358310:A143T	A	+	1	0	ITGA10	144239987	0.811000	0.29063	0.998000	0.56505	0.997000	0.91878	0.077000	0.14738	0.573000	0.29400	0.561000	0.74099	GCC		0.582	ITGA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038537.2	NM_003637		10	31	0	0	0	1	0	10	31					A	145528630	G	A	145528630	3	1	435	1	0	0	0	0	1	0	0	0	7873	1319	46	3	445	3	ITGA10	1	145528630	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	5812	145528630	103721991	531	21456											
ITGA10	8515	broad.mit.edu	37	chr1	145533448	145533448	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catgcttttgcggggtggacGccgcctgtttctctctgggg	2	13	15	11	3	2	0	0	0	2	0	3	1	2	1	2	5	2	2	2	5	0	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:145533448G>A	ENST00000369304.3	+	12	1506	c.1331G>A	c.(1330-1332)cGc>cAc	p.R444H	ITGA10_ENST00000539363.1_Missense_Mutation_p.R301H|ITGA10_ENST00000538811.1_Missense_Mutation_p.R313H	NM_003637.3	NP_003628.2	O75578	ITA10_HUMAN	integrin, alpha 10	444					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)	integrin alpha10-beta1 complex (GO:0034680)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	collagen binding (GO:0005518)|collagen binding involved in cell-matrix adhesion (GO:0098639)|metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					CGGGGTGGACGCCGCCTGTTT	0.527																																						ENST00000369304.3																			0				NS(1)|breast(2)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59						c.(1330-1332)cGc>cAc		integrin, alpha 10							112	124	120					1																	145533448		2203	4300	6503	SO:0001583	missense	8515				cell-matrix adhesion|integrin-mediated signaling pathway	integrin complex	collagen binding|receptor activity	g.chr1:145533448G>A	AF074015	CCDS72869.1	1q21.1	2010-03-23			ENSG00000143127	ENSG00000143127		"Integrins"	6135	protein-coding gene	gene with protein product		604042				9685391, 10702680	Standard	NM_003637		Approved		uc001eoa.3	O75578	OTTHUMG00000013751	ENST00000369304.3:c.1331G>A	1.37:g.145533448G>A	ENSP00000358310:p.Arg444His					ITGA10_ENST00000538811.1_Missense_Mutation_p.R313H|ITGA10_ENST00000539363.1_Missense_Mutation_p.R301H	p.R444H	NM_003637.3	NP_003628.2	O75578	ITA10_HUMAN			12	1506	+	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		444					B2RAM4|B2RTV5|Q6UXJ6|Q9UHZ8	Missense_Mutation	SNP	ENST00000369304.3	37	c.1331G>A	CCDS918.1	.	.	.	.	.	.	.	.	.	.	G	16.77	3.215713	0.58452	.	.	ENSG00000143127	ENST00000369304;ENST00000543043;ENST00000539363;ENST00000538811	T;T;T	0.71579	-0.58;-0.58;-0.58	5.04	2.17	0.27698	.	0.470541	0.21813	N	0.068726	T	0.55986	0.1955	L	0.47190	1.495	0.46149	D	0.998891	D;P;D;P	0.54772	0.965;0.942;0.968;0.888	P;B;P;B	0.51016	0.656;0.439;0.636;0.336	T	0.54807	-0.8238	10	0.42905	T	0.14	.	8.4618	0.32931	0.2574:0.0:0.7426:0.0	.	410;313;301;444	F5H3T9;F5GY13;B2RTV5;O75578	.;.;.;ITA10_HUMAN	H	444;410;301;313	ENSP00000358310:R444H;ENSP00000439894:R301H;ENSP00000440011:R313H	ENSP00000358310:R444H	R	+	2	0	ITGA10	144244805	0.888000	0.30383	0.996000	0.52242	0.996000	0.88848	0.555000	0.23422	0.321000	0.23259	-0.140000	0.14226	CGC		0.527	ITGA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038537.2	NM_003637		30	52	0	0	0	1	0	30	52					A	145533448	G	A	145533448	3	1	435	1	0	0	0	0	1	0	0	0	7873	1087	38	1	1377	1	ITGA10	1	145533448	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	4818	145533448	103717173	532	21457											
ITGA10	8515	broad.mit.edu	37	chr1	145533526	145533526	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagcttaagaaagatggggCtgtgagggttgcccagagcc	10	7	15	9	0	0	4	0	1	0	3	0	4	0	4	3	3	3	3	3	3	2	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:145533526C>A	ENST00000369304.3	+	12	1584	c.1409C>A	c.(1408-1410)gCt>gAt	p.A470D	ITGA10_ENST00000539363.1_Missense_Mutation_p.A327D|ITGA10_ENST00000538811.1_Missense_Mutation_p.A339D	NM_003637.3	NP_003628.2	O75578	ITA10_HUMAN	integrin, alpha 10	470					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)	integrin alpha10-beta1 complex (GO:0034680)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	collagen binding (GO:0005518)|collagen binding involved in cell-matrix adhesion (GO:0098639)|metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					AAAGATGGGGCTGTGAGGGTT	0.587																																						ENST00000369304.3																			0				NS(1)|breast(2)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59						c.(1408-1410)gCt>gAt		integrin, alpha 10							41	44	43					1																	145533526		2203	4300	6503	SO:0001583	missense	8515				cell-matrix adhesion|integrin-mediated signaling pathway	integrin complex	collagen binding|receptor activity	g.chr1:145533526C>A	AF074015	CCDS72869.1	1q21.1	2010-03-23			ENSG00000143127	ENSG00000143127		"Integrins"	6135	protein-coding gene	gene with protein product		604042				9685391, 10702680	Standard	NM_003637		Approved		uc001eoa.3	O75578	OTTHUMG00000013751	ENST00000369304.3:c.1409C>A	1.37:g.145533526C>A	ENSP00000358310:p.Ala470Asp					ITGA10_ENST00000538811.1_Missense_Mutation_p.A339D|ITGA10_ENST00000539363.1_Missense_Mutation_p.A327D	p.A470D	NM_003637.3	NP_003628.2	O75578	ITA10_HUMAN			12	1584	+	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		470					B2RAM4|B2RTV5|Q6UXJ6|Q9UHZ8	Missense_Mutation	SNP	ENST00000369304.3	37	c.1409C>A	CCDS918.1	.	.	.	.	.	.	.	.	.	.	C	3.497	-0.102650	0.06967	.	.	ENSG00000143127	ENST00000369304;ENST00000543043;ENST00000539363;ENST00000538811	T;T;T	0.11604	2.76;2.76;2.76	4.74	3.82	0.43975	.	0.641636	0.15726	N	0.247676	T	0.00784	0.0026	N	0.00778	-1.195	0.28295	N	0.923351	B;B;B;B	0.06786	0.001;0.0;0.0;0.0	B;B;B;B	0.06405	0.002;0.001;0.001;0.001	T	0.47509	-0.9112	10	0.11182	T	0.66	.	5.9143	0.19045	0.0:0.6985:0.1957:0.1059	.	436;339;327;470	F5H3T9;F5GY13;B2RTV5;O75578	.;.;.;ITA10_HUMAN	D	470;436;327;339	ENSP00000358310:A470D;ENSP00000439894:A327D;ENSP00000440011:A339D	ENSP00000358310:A470D	A	+	2	0	ITGA10	144244883	0.008000	0.16893	1.000000	0.80357	0.998000	0.95712	0.760000	0.26475	1.201000	0.43203	0.655000	0.94253	GCT		0.587	ITGA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038537.2	NM_003637		6	35	1	0	2.7689e-08	1	2.91998e-08	6	35					A	145533526	C	A	145533526	3	1	435	1	0	0	0	0	1	0	0	0	7873	797	28	5	1455	5	ITGA10	1	145533526	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	78	145533526	103717095	533	21458											
PIAS3	10401	broad.mit.edu	37	chr1	145578061	145578061	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cttctctgtttttctccacaGcacatggtgatgagtttccg	6	16	8	11	1	2	2	0	2	2	0	5	2	3	2	2	1	1	3	2	1	0	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:145578061G>A	ENST00000393045.2	+	2	114		c.e2-1		PIAS3_ENST00000369299.3_Splice_Site|PIAS3_ENST00000369298.1_Splice_Site	NM_006099.3	NP_006090.2	Q9Y6X2	PIAS3_HUMAN	protein inhibitor of activated STAT, 3						positive regulation of gene expression (GO:0010628)|positive regulation of membrane potential (GO:0045838)|positive regulation of protein sumoylation (GO:0033235)|protein sumoylation (GO:0016925)|regulation of transcription, DNA-templated (GO:0006355)|response to hormone (GO:0009725)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|nucleus (GO:0005634)|synapse (GO:0045202)	enzyme binding (GO:0019899)|nucleic acid binding (GO:0003676)|potassium channel regulator activity (GO:0015459)|protein C-terminus binding (GO:0008022)|SUMO ligase activity (GO:0019789)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)	28	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					TTTCTCCACAGCACATGGTGA	0.582																																						ENST00000393045.2																			0				cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)	28						c.e2-1		protein inhibitor of activated STAT, 3							95	87	90					1																	145578061		2203	4300	6503	SO:0001630	splice_region_variant	10401				positive regulation of protein sumoylation|protein sumoylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck	enzyme binding|nucleic acid binding|protein C-terminus binding|zinc ion binding	g.chr1:145578061G>A	AB021868	CCDS72866.1	1q21	2011-10-11			ENSG00000131788	ENSG00000131788		"Zinc fingers, MIZ-type"	16861	protein-coding gene	gene with protein product	"zinc finger, MIZ-type containing 5"	605987				10319586	Standard	NM_006099		Approved	FLJ14651, ZMIZ5	uc001eoc.1	Q9Y6X2	OTTHUMG00000013750	ENST00000393045.2:c.25-1G>A	1.37:g.145578061G>A						PIAS3_ENST00000369299.3_Splice_Site|PIAS3_ENST00000369298.1_Splice_Site		NM_006099.3	NP_006090.2	Q9Y6X2	PIAS3_HUMAN			2	114	+	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)							Q9UFI3	Splice_Site	SNP	ENST00000393045.2	37		CCDS920.2	.	.	.	.	.	.	.	.	.	.	G	16.21	3.059709	0.55325	.	.	ENSG00000131788	ENST00000393045;ENST00000369298	.	.	.	3.49	3.49	0.39957	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.5229	0.56069	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PIAS3	144289418	1.000000	0.71417	0.990000	0.47175	0.851000	0.48451	9.644000	0.98468	1.774000	0.52232	0.484000	0.47621	.		0.582	PIAS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038533.4	NM_006099	Intron	27	57	0	0	0	1	0	27	57					A	145578061	G	A	145578061	5	1	435	1	0	0	0	0	0	0	1	0	11877	985	34	3	30	3	PIAS3	1	145578061	Splice_Site	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	44535	145578061	103672560	534	21459											
FMO5	2330	broad.mit.edu	37	chr1	146684990	146684990	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tcagtgaccacttcccattgGcctgaagtggcaaaatcagg	11	9	10	11	0	2	2	2	2	0	0	3	2	3	2	3	3	0	1	3	3	3	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:146684990G>A	ENST00000254090.4	-	4	760	c.372C>T	c.(370-372)ggC>ggT	p.G124G	FMO5_ENST00000369272.3_Silent_p.G124G|FMO5_ENST00000465173.1_5'UTR|RP11-337C18.8_ENST00000607149.1_RNA|RP11-337C18.10_ENST00000606856.1_RNA|FMO5_ENST00000441068.2_Silent_p.G124G	NM_001461.2	NP_001452.2	P49326	FMO5_HUMAN	flavin containing monooxygenase 5	124						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	flavin adenine dinucleotide binding (GO:0050660)|N,N-dimethylaniline monooxygenase activity (GO:0004499)|NADP binding (GO:0050661)			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(9)|ovary(3)|upper_aerodigestive_tract(1)	25	all_hematologic(923;0.0487)					CTTCCCATTGGCCTGAAGTGG	0.478																																						ENST00000254090.4																			0				breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(9)|ovary(3)|upper_aerodigestive_tract(1)	25						c.(370-372)ggC>ggT		flavin containing monooxygenase 5							273	253	260					1																	146684990		2203	4300	6503	SO:0001819	synonymous_variant	2330					integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding	g.chr1:146684990G>A	Z47553	CCDS926.1, CCDS44209.1, CCDS44210.1	1q21.1	2011-08-04			ENSG00000131781	ENSG00000131781			3773	protein-coding gene	gene with protein product		603957				8786146, 9119381	Standard	NM_001461		Approved		uc001epi.2	P49326	OTTHUMG00000014607	ENST00000254090.4:c.372C>T	1.37:g.146684990G>A						FMO5_ENST00000369272.3_Silent_p.G124G|FMO5_ENST00000441068.2_Silent_p.G124G|FMO5_ENST00000465173.1_5'UTR	p.G124G	NM_001461.2	NP_001452.2	P49326	FMO5_HUMAN			4	760	-	all_hematologic(923;0.0487)		124					B2RBG1|C9JJD1|Q8IV22	Silent	SNP	ENST00000254090.4	37	c.372C>T	CCDS926.1																																																																																				0.478	FMO5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040373.2	NM_001461		72	108	0	0	0	1	0	72	108					A	146684990	G	A	146684990	2	1	435	1	0	0	0	0	0	0	0	1	5958	1190	42	3		3	FMO5	1	146684990	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	1106929	146684990	102565631	535	21460											
BCL9	607	broad.mit.edu	37	chr1	147096365	147096365	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctggcatgggaggtccagggCcagtgggaactccggacatc	8	6	16	11	1	0	0	0	0	0	0	3	3	2	3	3	6	1	1	3	6	1	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:147096365C>T	ENST00000234739.3	+	10	4626	c.3886C>T	c.(3886-3888)Cca>Tca	p.P1296S		NM_004326.2	NP_004317.2	O00512	BCL9_HUMAN	B-cell CLL/lymphoma 9	1296	Pro-rich.				canonical Wnt signaling pathway (GO:0060070)|myotube differentiation involved in skeletal muscle regeneration (GO:0014908)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell maintenance (GO:0035019)	cis-Golgi network (GO:0005801)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)				breast(1)|large_intestine(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	7	all_hematologic(923;0.115)					AGGTCCAGGGCCAGTGGGAAC	0.597			T	"IGH@, IGL@"	B-ALL																																	ENST00000234739.3				Dom	yes		1	1q21	607	T	B-cell CLL/lymphoma 9			L	"IGH@, IGL@"		B-ALL		0				breast(1)|large_intestine(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	7						c.(3886-3888)Cca>Tca		B-cell CLL/lymphoma 9							78	64	69					1																	147096365		2203	4300	6503	SO:0001583	missense	607				Wnt receptor signaling pathway	nucleus	protein binding	g.chr1:147096365C>T	Y13620	CCDS30833.1	1q21	2008-02-05			ENSG00000116128	ENSG00000116128			1008	protein-coding gene	gene with protein product		602597				9490669	Standard	NM_004326		Approved		uc001epq.3	O00512	OTTHUMG00000014031	ENST00000234739.3:c.3886C>T	1.37:g.147096365C>T	ENSP00000234739:p.Pro1296Ser						p.P1296S	NM_004326.2	NP_004317.2	O00512	BCL9_HUMAN			10	4626	+	all_hematologic(923;0.115)		1296			Pro-rich.		Q5T489	Missense_Mutation	SNP	ENST00000234739.3	37	c.3886C>T	CCDS30833.1	.	.	.	.	.	.	.	.	.	.	C	12.38	1.921936	0.33908	.	.	ENSG00000116128	ENST00000234739	T	0.54071	0.59	5.26	5.26	0.73747	.	0.188610	0.49916	D	0.000127	T	0.27832	0.0685	N	0.22421	0.69	0.32357	N	0.557704	P;P	0.47762	0.9;0.9	P;P	0.44518	0.452;0.452	T	0.10823	-1.0613	10	0.12103	T	0.63	-6.3905	18.8573	0.92257	0.0:1.0:0.0:0.0	.	1296;1296	Q1JQ81;O00512	.;BCL9_HUMAN	S	1296	ENSP00000234739:P1296S	ENSP00000234739:P1296S	P	+	1	0	BCL9	145562989	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.671000	0.61590	2.456000	0.83038	0.650000	0.86243	CCA		0.597	BCL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039468.1	NM_004326		6	22	0	0	0	1	0	6	22					T	147096365	C	T	147096365	3	4	435	1	0	0	0	0	1	0	0	0	1381	739	26	3	3912	3	BCL9	1	147096365	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	411375	147096365	102154256	536	21461											
BCL9	607	broad.mit.edu	37	chr1	147096381	147096381	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agggccagtgggaactccggAcatccctcttggtacagctc	8	8	12	13	1	1	0	0	0	1	0	4	2	3	2	3	4	3	2	3	4	2	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:147096381A>G	ENST00000234739.3	+	10	4642	c.3902A>G	c.(3901-3903)gAc>gGc	p.D1301G		NM_004326.2	NP_004317.2	O00512	BCL9_HUMAN	B-cell CLL/lymphoma 9	1301	Pro-rich.				canonical Wnt signaling pathway (GO:0060070)|myotube differentiation involved in skeletal muscle regeneration (GO:0014908)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell maintenance (GO:0035019)	cis-Golgi network (GO:0005801)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)				breast(1)|large_intestine(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	7	all_hematologic(923;0.115)					GGAACTCCGGACATCCCTCTT	0.577			T	"IGH@, IGL@"	B-ALL																																	ENST00000234739.3				Dom	yes		1	1q21	607	T	B-cell CLL/lymphoma 9			L	"IGH@, IGL@"		B-ALL		0				breast(1)|large_intestine(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	7						c.(3901-3903)gAc>gGc		B-cell CLL/lymphoma 9							91	72	78					1																	147096381		2203	4300	6503	SO:0001583	missense	607				Wnt receptor signaling pathway	nucleus	protein binding	g.chr1:147096381A>G	Y13620	CCDS30833.1	1q21	2008-02-05			ENSG00000116128	ENSG00000116128			1008	protein-coding gene	gene with protein product		602597				9490669	Standard	NM_004326		Approved		uc001epq.3	O00512	OTTHUMG00000014031	ENST00000234739.3:c.3902A>G	1.37:g.147096381A>G	ENSP00000234739:p.Asp1301Gly						p.D1301G	NM_004326.2	NP_004317.2	O00512	BCL9_HUMAN			10	4642	+	all_hematologic(923;0.115)		1301			Pro-rich.		Q5T489	Missense_Mutation	SNP	ENST00000234739.3	37	c.3902A>G	CCDS30833.1	.	.	.	.	.	.	.	.	.	.	A	10.56	1.384562	0.25031	.	.	ENSG00000116128	ENST00000234739	T	0.57907	0.37	5.26	5.26	0.73747	.	0.046708	0.85682	D	0.000000	T	0.22126	0.0533	N	0.21373	0.66	0.58432	D	0.999999	P;P	0.34934	0.476;0.476	B;B	0.33295	0.161;0.161	T	0.09292	-1.0681	10	0.16420	T	0.52	-19.6306	15.1655	0.72821	1.0:0.0:0.0:0.0	.	1301;1301	Q1JQ81;O00512	.;BCL9_HUMAN	G	1301	ENSP00000234739:D1301G	ENSP00000234739:D1301G	D	+	2	0	BCL9	145563005	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.959000	0.93110	1.987000	0.57996	0.528000	0.53228	GAC		0.577	BCL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039468.1	NM_004326		15	14	0	0	0	1	0	15	14					G	147096381	A	G	147096381	3	3	435	1	0	0	0	0	1	0	0	0	1381	275	10	4	3928	4	BCL9	1	147096381	Missense_Mutation	SNP	A	TCGA-XK-AAIW-01A-11D-A41K-08	16	147096381	102154240	537	21462											
GJA8	2703	broad.mit.edu	37	chr1	147380167	147380167	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcagagtctggctcaccgtgCttttcatcttccggatcctc	5	13	9	14	2	4	1	2	0	2	1	7	2	6	2	3	2	1	3	3	2	0	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:147380167C>T	ENST00000369235.1	+	1	85	c.85C>T	c.(85-87)Ctt>Ttt	p.L29F	GJA8_ENST00000240986.4_Missense_Mutation_p.L29F			P48165	CXA8_HUMAN	gap junction protein, alpha 8, 50kDa	29					cell-cell signaling (GO:0007267)|lens development in camera-type eye (GO:0002088)|protein homooligomerization (GO:0051260)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	connexon complex (GO:0005922)|integral component of plasma membrane (GO:0005887)	channel activity (GO:0015267)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)	37	all_hematologic(923;0.0276)					GCTCACCGTGCTTTTCATCTT	0.582																																					Melanoma(76;1255 1795 8195 52096)	ENST00000240986.4																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)	37						c.(85-87)Ctt>Ttt		gap junction protein, alpha 8, 50kDa							105	97	99					1																	147380167		2203	4300	6503	SO:0001583	missense	2703				cell communication|visual perception	connexon complex|integral to plasma membrane	channel activity	g.chr1:147380167C>T	U34802	CCDS30834.1	1q21.1	2008-02-05	2007-01-16		ENSG00000121634	ENSG00000121634		"Ion channels / Gap junction proteins (connexins)"	4281	protein-coding gene	gene with protein product	"connexin 50"	600897	"gap junction protein, alpha 8, 50kD (connexin 50)", "gap junction protein, alpha 8, 50kDa (connexin 50)"	CAE1, CZP1, CAE		9497259, 7796604	Standard	NM_005267		Approved	CX50	uc001epu.2	P48165	OTTHUMG00000024085	ENST00000369235.1:c.85C>T	1.37:g.147380167C>T	ENSP00000358238:p.Leu29Phe					GJA8_ENST00000369235.1_Missense_Mutation_p.L29F	p.L29F	NM_005267.4	NP_005258.2	P48165	CXA8_HUMAN			2	138	+	all_hematologic(923;0.0276)		29					A7L5M5|Q5VVN9|Q9NP25	Missense_Mutation	SNP	ENST00000369235.1	37	c.85C>T	CCDS30834.1	.	.	.	.	.	.	.	.	.	.	c	24.3	4.520065	0.85495	.	.	ENSG00000121634	ENST00000240986;ENST00000369235	D;D	0.99479	-5.98;-5.98	5.03	5.03	0.67393	Connexin, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.99563	0.9843	M	0.85542	2.76	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98296	1.0516	10	0.87932	D	0	.	18.3463	0.90324	0.0:1.0:0.0:0.0	.	29	P48165	CXA8_HUMAN	F	29	ENSP00000240986:L29F;ENSP00000358238:L29F	ENSP00000240986:L29F	L	+	1	0	GJA8	145846791	1.000000	0.71417	0.983000	0.44433	0.949000	0.60115	7.755000	0.85180	2.320000	0.78422	0.591000	0.81541	CTT		0.582	GJA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060647.1	NM_005267		5	65	0	0	0	1	0	5	65					T	147380167	C	T	147380167	3	4	435	1	0	0	0	0	1	0	0	0	6405	797	28	3	87	3	GJA8	1	147380167	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	283786	147380167	101870454	538	21463											
BOLA1	51027	broad.mit.edu	37	chr1	149871901	149871901	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acgcagcgctggccgaggagCtgggaggtccggtccatgcg	6	5	18	12	5	0	0	0	0	0	0	2	3	2	2	3	5	3	3	3	5	0	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:149871901C>T	ENST00000369153.2	+	3	953	c.289C>T	c.(289-291)Ctg>Ttg	p.L97L	BOLA1_ENST00000369150.1_Silent_p.L97L|BOLA1_ENST00000369152.5_Silent_p.L97L|BOLA1_ENST00000476344.1_3'UTR			Q9Y3E2	BOLA1_HUMAN	bolA family member 1	97						extracellular region (GO:0005576)|mitochondrion (GO:0005739)				endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)	10	Breast(34;0.0124)|all_hematologic(923;0.127)		STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221)			GGCCGAGGAGCTGGGAGGTCC	0.662																																						ENST00000369153.2																			0				endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)	10						c.(289-291)Ctg>Ttg		bolA family member 1							30	31	30					1																	149871901		2203	4299	6502	SO:0001819	synonymous_variant	51027					extracellular region	protein binding	g.chr1:149871901C>T	AF151901	CCDS939.1	1q21	2013-09-02	2013-09-02		ENSG00000178096	ENSG00000178096			24263	protein-coding gene	gene with protein product		613181	"bolA-like 1 (E. coli)", "bolA homolog 1 (E. coli)"			14718656	Standard	NM_016074		Approved	CGI-143	uc001etf.3	Q9Y3E2	OTTHUMG00000012087	ENST00000369153.2:c.289C>T	1.37:g.149871901C>T						BOLA1_ENST00000369150.1_Silent_p.L97L|BOLA1_ENST00000476344.1_3'UTR|BOLA1_ENST00000369152.5_Silent_p.L97L	p.L97L			Q9Y3E2	BOLA1_HUMAN	STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221)		3	953	+	Breast(34;0.0124)|all_hematologic(923;0.127)		97					B2R7K2|D3DUZ4|Q5QNY0	Silent	SNP	ENST00000369153.2	37	c.289C>T	CCDS939.1																																																																																				0.662	BOLA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033443.2	NM_016074		5	21	0	0	0	1	0	5	21					T	149871901	C	T	149871901	2	4	435	1	0	0	0	0	0	0	0	1	1485	796	28	3		3	BOLA1	1	149871901	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	2491734	149871901	99378720	539	21464											
SV2A	9900	broad.mit.edu	37	chr1	149879689	149879689	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccccggggaacactttggtGcgggatgcgtagtccactgc	6	9	14	12	3	0	0	0	0	0	0	2	2	2	2	3	4	4	1	3	4	2	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:149879689G>A	ENST00000369146.3	-	9	1939	c.1449C>T	c.(1447-1449)cgC>cgT	p.R483R	SV2A_ENST00000369145.1_Silent_p.R483R	NM_001278719.1|NM_014849.3	NP_001265648.1|NP_055664.3	Q7L0J3	SV2A_HUMAN	synaptic vesicle glycoprotein 2A	483					cellular calcium ion homeostasis (GO:0006874)|neurotransmitter transport (GO:0006836)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuromuscular junction (GO:0031594)|neuron projection (GO:0043005)|presynaptic active zone (GO:0048786)|synaptic vesicle (GO:0008021)|synaptic vesicle membrane (GO:0030672)	protein kinase binding (GO:0019901)|receptor activity (GO:0004872)|transmembrane transporter activity (GO:0022857)			breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(16)|ovary(6)|pancreas(1)|prostate(8)|skin(2)|urinary_tract(2)	55	Breast(34;0.00769)|all_hematologic(923;0.127)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)		Levetiracetam(DB01202)	ACACTTTGGTGCGGGATGCGT	0.517																																						ENST00000369146.3																			0				breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(16)|ovary(6)|pancreas(1)|prostate(8)|skin(2)|urinary_tract(2)	55						c.(1447-1449)cgC>cgT		synaptic vesicle glycoprotein 2A	Levetiracetam(DB01202)						159	155	157					1																	149879689		2203	4300	6503	SO:0001819	synonymous_variant	0				neurotransmitter transport	cell junction|endoplasmic reticulum|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity	g.chr1:149879689G>A	AB018279	CCDS940.1	1q21.2	2008-02-05			ENSG00000159164	ENSG00000159164			20566	protein-coding gene	gene with protein product		185860				7681585, 10611374	Standard	NM_014849		Approved	SV2, KIAA0736	uc001etg.3	Q7L0J3	OTTHUMG00000012209	ENST00000369146.3:c.1449C>T	1.37:g.149879689G>A						SV2A_ENST00000369145.1_Silent_p.R483R	p.R483R	NM_014849.3	NP_055664.3	Q7L0J3	SV2A_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)		9	1939	-	Breast(34;0.00769)|all_hematologic(923;0.127)|Colorectal(459;0.171)		483					D3DUZ7|O94841|Q5QNX8|Q7Z3L6|Q8NBJ6|Q9BVZ9	Silent	SNP	ENST00000369146.3	37	c.1449C>T	CCDS940.1																																																																																				0.517	SV2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033754.1			16	98	0	0	0	1	0	16	98					A	149879689	G	A	149879689	2	1	435	1	0	0	0	0	0	0	0	1	15414	1306	46	3		3	SV2A	1	149879689	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	7788	149879689	99370932	540	21465											
SV2A	9900	broad.mit.edu	37	chr1	149883426	149883426	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gatgagaagaaggcgaagacGctgttgactgagagcgagat	14	6	16	5	3	0	6	0	3	0	5	0	11	0	6	0	1	1	2	0	1	3	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:149883426G>A	ENST00000369146.3	-	3	1219	c.729C>T	c.(727-729)agC>agT	p.S243S	SV2A_ENST00000369145.1_Silent_p.S243S	NM_001278719.1|NM_014849.3	NP_001265648.1|NP_055664.3	Q7L0J3	SV2A_HUMAN	synaptic vesicle glycoprotein 2A	243					cellular calcium ion homeostasis (GO:0006874)|neurotransmitter transport (GO:0006836)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuromuscular junction (GO:0031594)|neuron projection (GO:0043005)|presynaptic active zone (GO:0048786)|synaptic vesicle (GO:0008021)|synaptic vesicle membrane (GO:0030672)	protein kinase binding (GO:0019901)|receptor activity (GO:0004872)|transmembrane transporter activity (GO:0022857)			breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(16)|ovary(6)|pancreas(1)|prostate(8)|skin(2)|urinary_tract(2)	55	Breast(34;0.00769)|all_hematologic(923;0.127)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)		Levetiracetam(DB01202)	AGGCGAAGACGCTGTTGACTG	0.567																																						ENST00000369146.3																			0				breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(16)|ovary(6)|pancreas(1)|prostate(8)|skin(2)|urinary_tract(2)	55						c.(727-729)agC>agT		synaptic vesicle glycoprotein 2A	Levetiracetam(DB01202)						125	91	102					1																	149883426		2203	4300	6503	SO:0001819	synonymous_variant	0				neurotransmitter transport	cell junction|endoplasmic reticulum|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity	g.chr1:149883426G>A	AB018279	CCDS940.1	1q21.2	2008-02-05			ENSG00000159164	ENSG00000159164			20566	protein-coding gene	gene with protein product		185860				7681585, 10611374	Standard	NM_014849		Approved	SV2, KIAA0736	uc001etg.3	Q7L0J3	OTTHUMG00000012209	ENST00000369146.3:c.729C>T	1.37:g.149883426G>A						SV2A_ENST00000369145.1_Silent_p.S243S	p.S243S	NM_014849.3	NP_055664.3	Q7L0J3	SV2A_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)		3	1219	-	Breast(34;0.00769)|all_hematologic(923;0.127)|Colorectal(459;0.171)		243					D3DUZ7|O94841|Q5QNX8|Q7Z3L6|Q8NBJ6|Q9BVZ9	Silent	SNP	ENST00000369146.3	37	c.729C>T	CCDS940.1																																																																																				0.567	SV2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033754.1			10	16	0	0	0	1	0	10	16					A	149883426	G	A	149883426	2	1	435	1	0	0	0	0	0	0	0	1	15414	1078	38	1		1	SV2A	1	149883426	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	3737	149883426	99367195	541	21466											
SF3B4	10262	broad.mit.edu	37	chr1	149898267	149898267	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tattttaaccaaaagctttaCctggtggaggaagcccagac	13	10	9	9	0	0	1	0	0	0	1	0	3	0	3	3	3	4	1	3	3	6	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:149898267C>T	ENST00000271628.8	-	3	1291		c.e3+1		MTMR11_ENST00000492824.1_5'Flank	NM_005850.4	NP_005841.1	Q15427	SF3B4_HUMAN	splicing factor 3b, subunit 4, 49kDa						gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	nucleoplasm (GO:0005654)|spliceosomal complex (GO:0005681)|U12-type spliceosomal complex (GO:0005689)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			endometrium(2)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(1)	17	Breast(34;0.0009)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)			AAAAGCTTTACCTGGTGGAGG	0.512																																						ENST00000271628.8																			0				endometrium(2)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(1)	17						c.e3+1		splicing factor 3b, subunit 4, 49kDa							43	43	43					1																	149898267		2203	4300	6503	SO:0001630	splice_region_variant	10262					nucleoplasm|U12-type spliceosomal complex	nucleotide binding|protein binding|RNA binding	g.chr1:149898267C>T	L35013	CCDS72900.1	1q21.2	2013-02-12	2002-08-29		ENSG00000143368	ENSG00000143368		"RNA binding motif (RRM) containing"	10771	protein-coding gene	gene with protein product		605593	"splicing factor 3b, subunit 4, 49kD"			7958871	Standard	NM_005850		Approved	SAP49, SF3b49, Hsh49	uc001etk.2	Q15427	OTTHUMG00000012208	ENST00000271628.8:c.706+1G>A	1.37:g.149898267C>T								NM_005850.4	NP_005841.1	Q15427	SF3B4_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)		3	1291	-	Breast(34;0.0009)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)							Q5SZ63	Splice_Site	SNP	ENST00000271628.8	37		CCDS941.1	.	.	.	.	.	.	.	.	.	.	C	18.63	3.664473	0.67700	.	.	ENSG00000143368	ENST00000271628	.	.	.	4.27	4.27	0.50696	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.3753	0.66869	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SF3B4	148164891	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	6.655000	0.74392	2.379000	0.81126	0.643000	0.83706	.		0.512	SF3B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033753.1	NM_005850	Intron	18	14	0	0	0	1	0	18	14					T	149898267	C	T	149898267	5	4	435	1	0	0	0	0	0	0	1	0	14153	521	18	3	583	3	SF3B4	1	149898267	Splice_Site	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	14841	149898267	99352354	542	21467											
MTMR11	10903	broad.mit.edu	37	chr1	149902422	149902422	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gagtatcctggggtgtagacTtgtgtataggagtttaactg	9	14	14	4	0	0	1	0	0	0	1	1	3	1	2	1	3	1	4	1	3	5	7	rs587641808		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:149902422T>C	ENST00000439741.2	-	15	1732	c.1482A>G	c.(1480-1482)caA>caG	p.Q494Q	MTMR11_ENST00000369140.3_Silent_p.Q422Q|SF3B4_ENST00000271628.8_5'Flank|MTMR11_ENST00000406732.3_3'UTR|MTMR11_ENST00000361405.6_3'UTR|MTMR11_ENST00000492824.1_5'UTR	NM_001145862.1	NP_001139334.1	A4FU01	MTMRB_HUMAN	myotubularin related protein 11	494	Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}.						phosphatase activity (GO:0016791)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(13)|prostate(2)|stomach(1)|urinary_tract(4)	34	Breast(34;0.0009)|Ovarian(49;0.0377)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)			GGGTGTAGACTTGTGTATAGG	0.453																																						ENST00000439741.2																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(13)|prostate(2)|stomach(1)|urinary_tract(4)	34						c.(1480-1482)caA>caG		myotubularin related protein 11							109	116	114					1																	149902422		2203	4300	6503	SO:0001819	synonymous_variant	10903						phosphatase activity	g.chr1:149902422T>C	AK097000	CCDS72901.1, CCDS72902.1	1q12-q21	2011-06-09			ENSG00000014914	ENSG00000014914		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"	24307	protein-coding gene	gene with protein product	"cisplatin resistance associated"					12495846	Standard	NM_181873		Approved	CRA	uc001etl.4	A4FU01	OTTHUMG00000012207	ENST00000439741.2:c.1482A>G	1.37:g.149902422T>C						MTMR11_ENST00000369140.3_Silent_p.Q422Q|MTMR11_ENST00000361405.6_3'UTR|MTMR11_ENST00000492824.1_5'UTR|MTMR11_ENST00000406732.3_3'UTR	p.Q494Q	NM_001145862.1	NP_001139334.1	A4FU01	MTMRB_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)		15	1732	-	Breast(34;0.0009)|Ovarian(49;0.0377)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		494			Myotubularin phosphatase.		B3KUE4|B4DJI6|B4DQF5|B4E3Q6|Q3ZCP7|Q5SZ62|Q6P2Q8|Q99752|Q99753	Silent	SNP	ENST00000439741.2	37	c.1482A>G	CCDS53360.1																																																																																				0.453	MTMR11-203	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_181873		31	51	0	0	0	1	0	31	51					C	149902422	T	C	149902422	2	2	435	1	0	0	0	0	0	0	0	1	9940	1606	56	4		4	MTMR11	1	149902422	Silent	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	4155	149902422	99348199	543	21468											
OTUD7B	56957	broad.mit.edu	37	chr1	149916659	149916659	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttctccagtgtctcagtgccGctgcttcctcccaaccctgt	4	13	7	17	1	2	0	1	0	2	0	6	0	4	0	5	0	3	2	5	0	1	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:149916659G>A	ENST00000369135.4	-	12	1923	c.1629C>T	c.(1627-1629)agC>agT	p.S543S		NM_020205.2	NP_064590.2	Q6GQQ9	OTU7B_HUMAN	OTU deubiquitinase 7B	543					mucosal immune response (GO:0002385)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of interleukin-8 production (GO:0032717)|negative regulation of protein localization to nucleus (GO:1900181)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|protein K11-linked deubiquitination (GO:0035871)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	cysteine-type peptidase activity (GO:0008234)|DNA binding (GO:0003677)|Lys48-specific deubiquitinase activity (GO:1990380)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(18)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39	Breast(34;0.0009)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.247)			TCTCAGTGCCGCTGCTTCCTC	0.582																																						ENST00000369135.3																			0				breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(18)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						c.(1627-1629)agC>agT		OTU domain containing 7B							110	114	113					1																	149916659		2010	4190	6200	SO:0001819	synonymous_variant	56957				negative regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm|microtubule cytoskeleton|nucleus	cysteine-type peptidase activity|DNA binding|protein binding|zinc ion binding	g.chr1:149916659G>A	AJ293573	CCDS72903.1	1q21.2	2014-02-24	2014-02-24	2006-07-07	ENSG00000163113	ENSG00000264522		"OTU domain containing"	16683	protein-coding gene	gene with protein product		611748	"zinc finger, A20 domain containing 1", "OTU domain containing 7B"	ZA20D1		11463333, 23827681	Standard	NM_020205		Approved	CEZANNE	uc001etn.3	Q6GQQ9	OTTHUMG00000012291	ENST00000369135.4:c.1629C>T	1.37:g.149916659G>A							p.S543S	NM_020205.2	NP_064590.2	Q6GQQ9	OTU7B_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.247)		12	1923	-	Breast(34;0.0009)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		543					B7Z643|D3DUZ8|Q5SZ60|Q8WWA7|Q9NQ53|Q9UFF4	Silent	SNP	ENST00000369135.4	37	c.1629C>T	CCDS41389.1																																																																																				0.582	OTUD7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034146.3	NM_020205		43	55	0	0	0	1	0	43	55					A	149916659	G	A	149916659	2	1	435	1	0	0	0	0	0	0	0	1	11319	1078	38	1		1	OTUD7B	1	149916659	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	14237	149916659	99333962	544	21469											
PLEKHO1	51177	broad.mit.edu	37	chr1	150131408	150131408	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caacccggggcagctgtcccGgatccaggacctggtagcaa	9	5	13	14	2	0	0	0	0	0	0	2	2	2	2	4	5	3	4	4	5	3	1	rs140096240	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:150131408G>A	ENST00000369124.4	+	6	1198	c.920G>A	c.(919-921)cGg>cAg	p.R307Q	PLEKHO1_ENST00000369126.1_Missense_Mutation_p.R124Q|PLEKHO1_ENST00000025469.6_Missense_Mutation_p.R273Q	NM_016274.4	NP_057358.2	Q53GL0	PKHO1_HUMAN	pleckstrin homology domain containing, family O member 1	307	Interaction with ATM, CKIP, IFP35 and NMI.					cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|skin(2)	22	Lung NSC(24;7.78e-28)|Breast(34;0.00211)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			CAGCTGTCCCGGATCCAGGAC	0.647																																						ENST00000369124.4																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|skin(2)	22						c.(919-921)cGg>cAg		pleckstrin homology domain containing, family O member 1		G	GLN/ARG	2,4404	4.2+/-10.8	0,2,2201	33	39	37		920	5.2	1	1	dbSNP_134	37	0,8600		0,0,4300	yes	missense	PLEKHO1	NM_016274.4	43	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	benign	307/410	150131408	2,13004	2203	4300	6503	SO:0001583	missense	51177					cytoplasm|nucleus|plasma membrane		g.chr1:150131408G>A	AF073836	CCDS945.1	1q21.2	2013-01-10			ENSG00000023902	ENSG00000023902		"Pleckstrin homology (PH) domain containing"	24310	protein-coding gene	gene with protein product		608335				10799509	Standard	NM_016274		Approved	CKIP-1, OC120	uc001ett.3	Q53GL0	OTTHUMG00000012510	ENST00000369124.4:c.920G>A	1.37:g.150131408G>A	ENSP00000358120:p.Arg307Gln					PLEKHO1_ENST00000369126.1_Missense_Mutation_p.R124Q|PLEKHO1_ENST00000025469.6_Missense_Mutation_p.R273Q	p.R307Q	NM_016274.4	NP_057358.2	Q53GL0	PKHO1_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		6	1198	+	Lung NSC(24;7.78e-28)|Breast(34;0.00211)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		307			Interaction with ATM, CKIP, IFP35 and NMI.		Q336K5|Q8IZ51|Q9NRV3|Q9UL48	Missense_Mutation	SNP	ENST00000369124.4	37	c.920G>A	CCDS945.1	.	.	.	.	.	.	.	.	.	.	G	17.69	3.451082	0.63290	4.54E-4	0.0	ENSG00000023902	ENST00000369126;ENST00000025469;ENST00000369124;ENST00000441340	T;T	0.42131	1.01;0.98	5.24	5.24	0.73138	.	0.282861	0.36740	N	0.002426	T	0.15739	0.0379	L	0.27053	0.805	0.48830	D	0.999713	B	0.24533	0.105	B	0.15484	0.013	T	0.03795	-1.1003	10	0.32370	T	0.25	-31.287	11.4224	0.49989	0.0815:0.0:0.9185:0.0	.	307	Q53GL0	PKHO1_HUMAN	Q	124;273;307;187	ENSP00000025469:R273Q;ENSP00000358120:R307Q	ENSP00000025469:R273Q	R	+	2	0	PLEKHO1	148398032	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	2.948000	0.49066	2.726000	0.93360	0.655000	0.94253	CGG		0.647	PLEKHO1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034962.1	NM_016274		8	22	0	0	0	1	0	8	22					A	150131408	G	A	150131408	3	1	435	1	0	0	0	0	1	0	0	0	12084	1116	39	2	942	2	PLEKHO1	1	150131408	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	214749	150131408	99119213	545	21470											
RPRD2	23248	broad.mit.edu	37	chr1	150444609	150444609	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcaacaagaagagcactaccGcatagaaacccgcgtctcct	14	5	8	14	3	1	3	0	0	1	3	2	3	1	3	3	0	4	3	3	0	6	2	rs201638526		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:150444609G>A	ENST00000369068.4	+	11	3189	c.3185G>A	c.(3184-3186)cGc>cAc	p.R1062H	RPRD2_ENST00000401000.4_Missense_Mutation_p.R1036H|RPRD2_ENST00000492220.1_3'UTR	NM_015203.3	NP_056018.2	Q5VT52	RPRD2_HUMAN	regulation of nuclear pre-mRNA domain containing 2	1062						DNA-directed RNA polymerase II, holoenzyme (GO:0016591)				central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						GAGCACTACCGCATAGAAACC	0.532													G|||	0	0	0	0	5008	,	,		17463	0		0	False		,,,				2504	0					ENST00000401000.4																			0				central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						c.(3106-3108)cGc>cAc		regulation of nuclear pre-mRNA domain containing 2							81	86	84					1																	150444609		2064	4199	6263	SO:0001583	missense	23248						protein binding	g.chr1:150444609G>A	BX641025	CCDS44216.1, CCDS72907.1	1q21.2	2012-02-09	2008-08-15	2008-07-28	ENSG00000163125	ENSG00000163125			29039	protein-coding gene	gene with protein product		614695	"KIAA0460"	KIAA0460		22231121	Standard	XM_005245033		Approved	FLJ32145, HSPC099	uc009wlr.3	Q5VT52	OTTHUMG00000012808	ENST00000369068.4:c.3185G>A	1.37:g.150444609G>A	ENSP00000358064:p.Arg1062His					RPRD2_ENST00000492220.1_3'UTR|RPRD2_ENST00000369068.4_Missense_Mutation_p.R1062H	p.R1036H			Q5VT52	RPRD2_HUMAN			10	3172	+			1062					A8K6N8|B3KPT1|B4E2Q6|O75048|Q5VT51|Q5VT53|Q6MZL4|Q86XD2|Q9P0D7	Missense_Mutation	SNP	ENST00000369068.4	37	c.3107G>A	CCDS44216.1	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	G	18.62	3.662924	0.67700	.	.	ENSG00000163125	ENST00000401000;ENST00000369068	T;T	0.61510	0.1;0.11	5.03	5.03	0.67393	.	0.000000	0.64402	D	0.000001	T	0.58581	0.2132	N	0.24115	0.695	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.78314	0.98;0.991	T	0.65573	-0.6135	10	0.87932	D	0	-7.4171	18.138	0.89627	0.0:0.0:1.0:0.0	.	1062;1036	Q5VT52;Q5VT52-3	RPRD2_HUMAN;.	H	1036;1062	ENSP00000383785:R1036H;ENSP00000358064:R1062H	ENSP00000358064:R1062H	R	+	2	0	RPRD2	148711233	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.413000	0.73308	2.600000	0.87896	0.655000	0.94253	CGC		0.532	RPRD2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000035844.1	NM_015203		25	49	0	0	0	1	0	25	49					A	150444609	G	A	150444609	3	1	435	1	0	0	0	0	1	0	0	0	13617	1087	38	1	3227	1	RPRD2	1	150444609	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	313201	150444609	98806012	546	21471											
TARS2	80222	broad.mit.edu	37	chr1	150464910	150464910	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggcacattggttgacctttGccagggcccccaccttcggc	5	10	11	15	1	0	1	0	1	0	0	1	1	0	1	5	4	1	2	5	4	0	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:150464910G>A	ENST00000369064.3	+	7	753	c.719G>A	c.(718-720)tGc>tAc	p.C240Y	TARS2_ENST00000369054.2_Intron|TARS2_ENST00000606933.1_Missense_Mutation_p.C240Y|TARS2_ENST00000438568.2_3'UTR|TARS2_ENST00000463555.1_3'UTR	NM_025150.3	NP_079426.2	Q9BW92	SYTM_HUMAN	threonyl-tRNA synthetase 2, mitochondrial (putative)	240					gene expression (GO:0010467)|mitochondrial threonyl-tRNA aminoacylation (GO:0070159)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|threonine-tRNA ligase activity (GO:0004829)			cervix(1)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	35	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.51e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)		L-Threonine(DB00156)	GTTGACCTTTGCCAGGGCCCC	0.488																																						ENST00000369064.3																			0				cervix(1)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	35						c.(718-720)tGc>tAc		threonyl-tRNA synthetase 2, mitochondrial (putative)	L-Threonine(DB00156)						145	146	146					1																	150464910		2203	4300	6503	SO:0001583	missense	80222				threonyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|threonine-tRNA ligase activity	g.chr1:150464910G>A	BC007824	CCDS952.1, CCDS60251.1, CCDS60252.1	1q21.2	2012-10-26	2007-02-23	2007-02-23	ENSG00000143374	ENSG00000143374	6.1.1.3	"Aminoacyl tRNA synthetases / Class II"	30740	protein-coding gene	gene with protein product	"threonine tRNA ligase 2, mitochondrial"	612805	"threonyl-tRNA synthetase-like 1"	TARSL1			Standard	NM_001271895		Approved	FLJ12528	uc001euq.4	Q9BW92	OTTHUMG00000012809	ENST00000369064.3:c.719G>A	1.37:g.150464910G>A	ENSP00000358060:p.Cys240Tyr					TARS2_ENST00000606933.1_Missense_Mutation_p.C240Y|TARS2_ENST00000438568.2_3'UTR|TARS2_ENST00000369054.2_Intron|TARS2_ENST00000463555.1_3'UTR	p.C240Y	NM_025150.3	NP_079426.2	Q9BW92	SYTM_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.51e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)		7	753	+	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		240					Q53GW7|Q96I50|Q9H9V2	Missense_Mutation	SNP	ENST00000369064.3	37	c.719G>A	CCDS952.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.105457	0.77096	.	.	ENSG00000143374	ENST00000369064;ENST00000369051;ENST00000369052	.	.	.	5.29	4.38	0.52667	Threonyl/alanyl tRNA synthetase, SAD (2);Threonyl/alanyl tRNA synthetase, class II-like, putative editing domain (1);	0.057157	0.64402	D	0.000001	D	0.84028	0.5382	H	0.96398	3.815	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.995	D	0.88965	0.3396	9	0.87932	D	0	-13.9248	13.0108	0.58729	0.0789:0.0:0.9211:0.0	.	47;240	E7EVR9;Q9BW92	.;SYTM_HUMAN	Y	240;47;47	.	ENSP00000358047:C47Y	C	+	2	0	TARS2	148731534	1.000000	0.71417	0.935000	0.37517	0.975000	0.68041	7.907000	0.87430	1.478000	0.48253	0.650000	0.86243	TGC		0.488	TARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000035847.1	NM_025150		29	48	0	0	0	1	0	29	48					A	150464910	G	A	150464910	3	1	435	1	0	0	0	0	1	0	0	0	15557	1319	46	3	745	3	TARS2	1	150464910	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	20301	150464910	98785711	547	21472											
GOLPH3L	55204	broad.mit.edu	37	chr1	150621038	150621038	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttacccaccgctctagtacaCtatcttgaagttttttcact	9	16	4	12	1	3	1	1	1	2	0	3	1	3	1	2	0	2	3	2	0	5	8			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:150621038C>T	ENST00000271732.3	-	5	661	c.617G>A	c.(616-618)aGt>aAt	p.S206N	GOLPH3L_ENST00000540514.1_Missense_Mutation_p.S162N	NM_018178.5	NP_060648.2	Q9H4A5	GLP3L_HUMAN	golgi phosphoprotein 3-like	206					Golgi organization (GO:0007030)|positive regulation of protein secretion (GO:0050714)	Golgi membrane (GO:0000139)|trans-Golgi network membrane (GO:0032588)	phosphatidylinositol-4-phosphate binding (GO:0070273)			breast(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)	8	all_cancers(9;3.09e-52)|all_epithelial(9;4.47e-43)|all_lung(15;1.09e-34)|Lung NSC(24;4.04e-31)|Breast(34;0.000615)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;1.2e-23)|all cancers(9;4.81e-23)|OV - Ovarian serous cystadenocarcinoma(6;1.93e-15)|BRCA - Breast invasive adenocarcinoma(12;0.000479)|LUSC - Lung squamous cell carcinoma(543;0.171)			CTCTAGTACACTATCTTGAAG	0.458																																						ENST00000271732.3																			0				breast(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)	8						c.(616-618)aGt>aAt		golgi phosphoprotein 3-like							108	103	105					1																	150621038		2203	4300	6503	SO:0001583	missense	55204					Golgi cisterna membrane		g.chr1:150621038C>T	AJ296153	CCDS966.1	1q21	2008-02-05			ENSG00000143457	ENSG00000143457			24882	protein-coding gene	gene with protein product		612208					Standard	NM_018178		Approved	GPP34R	uc001evj.2	Q9H4A5	OTTHUMG00000035009	ENST00000271732.3:c.617G>A	1.37:g.150621038C>T	ENSP00000271732:p.Ser206Asn					GOLPH3L_ENST00000540514.1_Missense_Mutation_p.S162N	p.S206N	NM_018178.5	NP_060648.2	Q9H4A5	GLP3L_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;1.2e-23)|all cancers(9;4.81e-23)|OV - Ovarian serous cystadenocarcinoma(6;1.93e-15)|BRCA - Breast invasive adenocarcinoma(12;0.000479)|LUSC - Lung squamous cell carcinoma(543;0.171)		5	661	-	all_cancers(9;3.09e-52)|all_epithelial(9;4.47e-43)|all_lung(15;1.09e-34)|Lung NSC(24;4.04e-31)|Breast(34;0.000615)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		206					B1AN09|B7Z6N3|Q9NVK0	Missense_Mutation	SNP	ENST00000271732.3	37	c.617G>A	CCDS966.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.387078	0.82902	.	.	ENSG00000143457	ENST00000271732;ENST00000369003;ENST00000540514;ENST00000427665	.	.	.	5.44	5.44	0.79542	.	0.000000	0.85682	D	0.000000	T	0.72479	0.3465	L	0.60455	1.87	0.54753	D	0.99998	D;D	0.62365	0.964;0.991	P;D	0.74023	0.828;0.982	T	0.73196	-0.4059	9	0.66056	D	0.02	-13.0148	17.9984	0.89191	0.0:1.0:0.0:0.0	.	162;206	F5H4M3;Q9H4A5	.;GLP3L_HUMAN	N	206;228;162;228	.	ENSP00000271732:S206N	S	-	2	0	GOLPH3L	148887662	0.818000	0.29161	0.996000	0.52242	0.960000	0.62799	2.494000	0.45329	2.832000	0.97577	0.655000	0.94253	AGT		0.458	GOLPH3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084734.1	NM_018178		10	30	0	0	0	1	0	10	30					T	150621038	C	T	150621038	3	4	435	1	0	0	0	0	1	0	0	0	6569	565	20	3	244	3	GOLPH3L	1	150621038	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	156128	150621038	98629583	548	21473											
CTSS	1520	broad.mit.edu	37	chr1	150730372	150730372	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	catgcccagatcgtatgagtGcattcccattgaatgctcca	10	11	8	12	1	0	3	0	2	0	1	3	3	2	3	3	0	3	3	3	0	2	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:150730372G>A	ENST00000368985.3	-	3	471	c.211C>T	c.(211-213)Cac>Tac	p.H71Y	CTSS_ENST00000448301.2_Missense_Mutation_p.H71Y|CTSS_ENST00000480760.1_5'UTR	NM_001199739.1|NM_004079.4	NP_001186668.1|NP_004070.3	P25774	CATS_HUMAN	cathepsin S	71					adaptive immune response (GO:0002250)|antigen processing and presentation (GO:0019882)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|basement membrane disassembly (GO:0034769)|cellular response to thyroid hormone stimulus (GO:0097067)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|immune response (GO:0006955)|innate immune response (GO:0045087)|positive regulation of inflammatory response (GO:0050729)|proteolysis (GO:0006508)|proteolysis involved in cellular protein catabolic process (GO:0051603)|toll-like receptor signaling pathway (GO:0002224)	endolysosome lumen (GO:0036021)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)|membrane (GO:0016020)	collagen binding (GO:0005518)|cysteine-type endopeptidase activity (GO:0004197)|fibronectin binding (GO:0001968)|laminin binding (GO:0043236)|proteoglycan binding (GO:0043394)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|skin(1)|stomach(1)|urinary_tract(1)	15	all_cancers(9;6.17e-52)|all_epithelial(9;9.7e-43)|all_lung(15;5.74e-35)|Lung NSC(24;2.09e-31)|Breast(34;0.00146)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0485)|Epithelial(6;5.02e-21)|all cancers(9;1.28e-20)|OV - Ovarian serous cystadenocarcinoma(6;1.09e-14)|BRCA - Breast invasive adenocarcinoma(12;0.00501)|LUSC - Lung squamous cell carcinoma(543;0.171)			TCGTATGAGTGCATTCCCATT	0.418																																						ENST00000368985.3																			0				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|skin(1)|stomach(1)|urinary_tract(1)	15						c.(211-213)Cac>Tac		cathepsin S							130	112	118					1																	150730372		2203	4300	6503	SO:0001583	missense	1520				immune response|proteolysis	extracellular region|lysosome	cysteine-type endopeptidase activity	g.chr1:150730372G>A	M90696	CCDS968.1, CCDS55634.1	1q21	2008-02-05			ENSG00000163131	ENSG00000163131	3.4.22.27	"Cathepsins"	2545	protein-coding gene	gene with protein product		116845				1373132	Standard	NM_001199739		Approved		uc001evn.3	P25774	OTTHUMG00000035010	ENST00000368985.3:c.211C>T	1.37:g.150730372G>A	ENSP00000357981:p.His71Tyr					CTSS_ENST00000480760.1_5'UTR|CTSS_ENST00000448301.2_Missense_Mutation_p.H71Y	p.H71Y	NM_001199739.1|NM_004079.4	NP_001186668.1|NP_004070.3	P25774	CATS_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0485)|Epithelial(6;5.02e-21)|all cancers(9;1.28e-20)|OV - Ovarian serous cystadenocarcinoma(6;1.09e-14)|BRCA - Breast invasive adenocarcinoma(12;0.00501)|LUSC - Lung squamous cell carcinoma(543;0.171)		3	471	-	all_cancers(9;6.17e-52)|all_epithelial(9;9.7e-43)|all_lung(15;5.74e-35)|Lung NSC(24;2.09e-31)|Breast(34;0.00146)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		71					B4DWC9|D3DV05|Q5T5I0|Q6FHS5|Q9BUG3	Missense_Mutation	SNP	ENST00000368985.3	37	c.211C>T	CCDS968.1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.507525	0.85282	.	.	ENSG00000163131	ENST00000448301;ENST00000368985	D;D	0.86030	-2.06;-2.06	5.46	5.46	0.80206	Proteinase inhibitor I29, cathepsin propeptide (2);	0.095678	0.64402	D	0.000001	D	0.92364	0.7577	M	0.87617	2.895	0.49798	D	0.99982	D;D	0.89917	1.0;1.0	D;D	0.78314	0.988;0.991	D	0.92874	0.6317	10	0.59425	D	0.04	.	16.8666	0.86030	0.0:0.0:1.0:0.0	.	71;71	B4DWC9;P25774	.;CATS_HUMAN	Y	71	ENSP00000408414:H71Y;ENSP00000357981:H71Y	ENSP00000357981:H71Y	H	-	1	0	CTSS	148996996	1.000000	0.71417	0.999000	0.59377	0.958000	0.62258	6.625000	0.74248	2.578000	0.87016	0.306000	0.20318	CAC		0.418	CTSS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084737.1	NM_004079		16	24	0	0	0	1	0	16	24					A	150730372	G	A	150730372	3	1	435	1	0	0	0	0	1	0	0	0	4041	1319	46	3	808	3	CTSS	1	150730372	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	109334	150730372	98520249	549	21474											
CTSK	1513	broad.mit.edu	37	chr1	150772104	150772104	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggccactgccctcttcagggCtttctcattcccctcgggga	4	11	10	16	1	3	0	2	0	2	0	6	1	4	1	4	4	1	1	4	4	0	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:150772104C>T	ENST00000271651.3	-	6	810	c.700G>A	c.(700-702)Gcc>Acc	p.A234T		NM_000396.3	NP_000387.1	P43235	CATK_HUMAN	cathepsin K	234					bone resorption (GO:0045453)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|innate immune response (GO:0045087)|intramembranous ossification (GO:0001957)|proteolysis (GO:0006508)|proteolysis involved in cellular protein catabolic process (GO:0051603)|toll-like receptor signaling pathway (GO:0002224)	endolysosome lumen (GO:0036021)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	collagen binding (GO:0005518)|cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)|fibronectin binding (GO:0001968)|proteoglycan binding (GO:0043394)			cervix(1)|endometrium(1)|lung(4)|skin(1)	7	all_cancers(9;2.32e-51)|all_epithelial(9;3.89e-42)|all_lung(15;4.59e-35)|Lung NSC(24;1.7e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Colorectal(459;0.171)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0485)|BRCA - Breast invasive adenocarcinoma(12;0.00606)|LUSC - Lung squamous cell carcinoma(543;0.211)			CTCTTCAGGGCTTTCTCATTC	0.512																																						ENST00000271651.3																			0				cervix(1)|endometrium(1)|lung(4)|skin(1)	7						c.(700-702)Gcc>Acc		cathepsin K							130	126	127					1																	150772104		2203	4300	6503	SO:0001583	missense	1513				proteolysis	lysosome	cysteine-type endopeptidase activity|protein binding	g.chr1:150772104C>T	BC016058	CCDS969.1	1q21	2008-02-05	2006-12-05		ENSG00000143387	ENSG00000143387		"Cathepsins"	2536	protein-coding gene	gene with protein product		601105	"cathepsin K (pycnodysostosis)"	CTSO2, CTSO, PYCD		7818555	Standard	NM_000396		Approved	PKND	uc001evp.2	P43235	OTTHUMG00000035008	ENST00000271651.3:c.700G>A	1.37:g.150772104C>T	ENSP00000271651:p.Ala234Thr						p.A234T	NM_000396.3	NP_000387.1	P43235	CATK_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0485)|BRCA - Breast invasive adenocarcinoma(12;0.00606)|LUSC - Lung squamous cell carcinoma(543;0.211)		6	810	-	all_cancers(9;2.32e-51)|all_epithelial(9;3.89e-42)|all_lung(15;4.59e-35)|Lung NSC(24;1.7e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Colorectal(459;0.171)|Melanoma(130;0.185)		234					Q6FHS6	Missense_Mutation	SNP	ENST00000271651.3	37	c.700G>A	CCDS969.1	.	.	.	.	.	.	.	.	.	.	C	33	5.225701	0.95173	.	.	ENSG00000143387	ENST00000271651	D	0.87966	-2.32	6.04	6.04	0.98038	Peptidase C1A, papain C-terminal (2);	0.284859	0.37955	N	0.001866	D	0.92864	0.7730	M	0.83312	2.635	0.58432	D	0.999999	D	0.76494	0.999	D	0.64877	0.93	D	0.92717	0.6188	10	0.62326	D	0.03	.	18.0887	0.89466	0.0:1.0:0.0:0.0	.	234	P43235	CATK_HUMAN	T	234	ENSP00000271651:A234T	ENSP00000271651:A234T	A	-	1	0	CTSK	149038728	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.972000	0.63756	2.873000	0.98535	0.563000	0.77884	GCC		0.512	CTSK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084732.1	NM_000396		31	46	0	0	0	1	0	31	46					T	150772104	C	T	150772104	3	4	435	1	0	0	0	0	1	0	0	0	4037	797	28	3	301	3	CTSK	1	150772104	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	41732	150772104	98478517	550	21475											
SETDB1	9869	broad.mit.edu	37	chr1	150936118	150936118	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tctgtggacaagggggagagCgcacctgttcgtaagaacac	11	7	14	9	2	1	2	0	0	1	2	2	4	1	3	1	3	2	3	1	3	3	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:150936118C>T	ENST00000271640.5	+	20	3760	c.3570C>T	c.(3568-3570)agC>agT	p.S1190S	SETDB1_ENST00000368969.4_Silent_p.S1190S|CERS2_ENST00000345896.4_5'Flank|RP11-316M1.12_ENST00000561111.1_RNA|RP11-316M1.12_ENST00000560481.1_RNA	NM_001145415.1|NM_012432.3	NP_001138887.1|NP_036564.3	Q15047	SETB1_HUMAN	SET domain, bifurcated 1	1190	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				bone development (GO:0060348)|histone H3-K9 trimethylation (GO:0036124)|inner cell mass cell proliferation (GO:0001833)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)			NS(1)|large_intestine(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|BRCA - Breast invasive adenocarcinoma(12;0.0152)|LUSC - Lung squamous cell carcinoma(543;0.211)			AGGGGGAGAGCGCACCTGTTC	0.498																																						ENST00000271640.5																			0				NS(1)|large_intestine(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12						c.(3568-3570)agC>agT		SET domain, bifurcated 1							178	173	175					1																	150936118		2203	4300	6503	SO:0001819	synonymous_variant	9869				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|Golgi apparatus|nucleus|plasma membrane	DNA binding|histone-lysine N-methyltransferase activity|protein binding|zinc ion binding	g.chr1:150936118C>T	D31891	CCDS972.1, CCDS44217.1, CCDS58026.1	1q21	2013-01-23			ENSG00000143379	ENSG00000143379		"Chromatin-modifying enzymes / K-methyltransferases", "Tudor domain containing"	10761	protein-coding gene	gene with protein product	"tudor domain containing 21"	604396				10343109	Standard	NM_001145415		Approved	KG1T, KIAA0067, ESET, KMT1E, TDRD21	uc001evu.2	Q15047	OTTHUMG00000035003	ENST00000271640.5:c.3570C>T	1.37:g.150936118C>T						SETDB1_ENST00000368969.4_Silent_p.S1190S	p.S1190S	NM_001145415.1|NM_012432.3	NP_001138887.1|NP_036564.3	Q15047	SETB1_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|BRCA - Breast invasive adenocarcinoma(12;0.0152)|LUSC - Lung squamous cell carcinoma(543;0.211)		20	3760	+	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		1190			SET.		A6NEW2|Q5SZD8|Q5SZD9|Q5SZE0|Q5SZE7|Q96GM9	Silent	SNP	ENST00000271640.5	37	c.3570C>T	CCDS44217.1																																																																																				0.498	SETDB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000084717.2			44	79	0	0	0	1	0	44	79					T	150936118	C	T	150936118	2	4	435	1	0	0	0	0	0	0	0	1	14138	767	27	1		1	SETDB1	1	150936118	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	164014	150936118	98314503	551	21476											
LASS2	29956	broad.mit.edu	37	chr1	150940568	150940568	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcctcccccacctggcttctCggaacttcttgaggagactg	6	10	10	15	1	2	2	0	1	2	1	4	4	3	3	4	3	1	1	4	3	1	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:150940568C>T	ENST00000271688.6	-	4	787	c.401G>A	c.(400-402)cGa>cAa	p.R134Q	CERS2_ENST00000345896.4_5'UTR|RP11-316M1.12_ENST00000561111.1_RNA|CERS2_ENST00000561294.1_Missense_Mutation_p.R125Q|CERS2_ENST00000368954.5_Missense_Mutation_p.R134Q|RP11-316M1.12_ENST00000560481.1_RNA	NM_181746.3	NP_859530.1	Q96G23	CERS2_HUMAN	ceramide synthase 2	134	TLC. {ECO:0000255|PROSITE- ProRule:PRU00205}.				ceramide biosynthetic process (GO:0046513)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear membrane (GO:0031965)	DNA binding (GO:0003677)|sphingosine N-acyltransferase activity (GO:0050291)										CCTGGCTTCTCGGAACTTCTT	0.627																																						ENST00000271688.6																			0											c.(400-402)cGa>cAa		ceramide synthase 2							63	65	64					1																	150940568		2203	4300	6503	SO:0001583	missense	29956					endoplasmic reticulum membrane|integral to membrane|nuclear membrane	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sphingosine N-acyltransferase activity	g.chr1:150940568C>T	AF189062	CCDS973.1	1q21.3	2012-09-20	2011-07-08	2011-07-08	ENSG00000143418	ENSG00000143418		"Homeoboxes / CERS class"	14076	protein-coding gene	gene with protein product		606920	"longevity assurance (LAG1, S. cerevisiae) homolog 2", "LAG1 longevity assurance homolog 2 (S. cerevisiae)", "LAG1 homolog, ceramide synthase 2"	LASS2		11543633	Standard	NM_181746		Approved	SP260, FLJ10243	uc001evz.3	Q96G23	OTTHUMG00000035064	ENST00000271688.6:c.401G>A	1.37:g.150940568C>T	ENSP00000271688:p.Arg134Gln					CERS2_ENST00000368954.5_Missense_Mutation_p.R134Q|CERS2_ENST00000345896.4_5'UTR|CERS2_ENST00000561294.1_Missense_Mutation_p.R125Q	p.R134Q	NM_181746.3	NP_859530.1	Q96G23	CERS2_HUMAN			4	787	-			134			TLC.		D3DV06|Q5SZE5|Q9HD96|Q9NW79	Missense_Mutation	SNP	ENST00000271688.6	37	c.401G>A	CCDS973.1	.	.	.	.	.	.	.	.	.	.	C	16.31	3.087205	0.55968	.	.	ENSG00000143418	ENST00000368954;ENST00000271688;ENST00000368949;ENST00000361419;ENST00000421609	D;D;D;D;T	0.84442	-1.85;-1.85;-1.85;-1.85;2.35	4.9	4.9	0.64082	TRAM/LAG1/CLN8 homology domain (3);	0.142017	0.46758	D	0.000271	T	0.63534	0.2519	N	0.20445	0.575	0.58432	D	0.999997	B	0.17667	0.023	B	0.06405	0.002	T	0.62201	-0.6904	10	0.12430	T	0.62	-4.7369	17.8863	0.88855	0.0:1.0:0.0:0.0	.	134	Q96G23	CERS2_HUMAN	Q	134;134;154;134;134	ENSP00000357950:R134Q;ENSP00000271688:R134Q;ENSP00000357945:R154Q;ENSP00000355020:R134Q;ENSP00000393239:R134Q	ENSP00000271688:R134Q	R	-	2	0	CERS2	149207192	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.552000	0.67281	2.543000	0.85770	0.655000	0.94253	CGA		0.627	CERS2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084897.2	NM_022075		24	37	0	0	0	1	0	24	37					T	150940568	C	T	150940568	3	4	435	1	0	0	0	0	1	0	0	0	8639	884	31	2	773	2	LASS2	1	150940568	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	4450	150940568	98310053	552	21477											
ANXA9	8416	broad.mit.edu	37	chr1	150960778	150960778	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcttcggtgatcaagaacacAccgctgtactttgctgacaa	11	10	9	11	2	1	3	1	2	0	1	2	3	1	3	1	1	3	4	1	1	4	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:150960778A>G	ENST00000368947.4	+	12	1289	c.813A>G	c.(811-813)acA>acG	p.T271T		NM_003568.2	NP_003559.2	O76027	ANXA9_HUMAN	annexin A9	271					single organismal cell-cell adhesion (GO:0016337)|synaptic transmission (GO:0007268)	cell surface (GO:0009986)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	acetylcholine receptor activity (GO:0015464)|calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|phosphatidylserine binding (GO:0001786)|phospholipid binding (GO:0005543)|protein homodimerization activity (GO:0042803)			endometrium(1)|large_intestine(1)|lung(4)|skin(2)	8	all_lung(15;1.09e-34)|Lung NSC(24;1.1e-30)|Lung SC(34;0.00202)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			TCAAGAACACACCGCTGTACT	0.502																																						ENST00000368947.4																			0				endometrium(1)|large_intestine(1)|lung(4)|skin(2)	8						c.(811-813)acA>acG		annexin A9							164	151	155					1																	150960778		2203	4300	6503	SO:0001819	synonymous_variant	8416				cell-cell adhesion	cell surface|cytosol	acetylcholine receptor activity|calcium ion binding|calcium-dependent phospholipid binding|phosphatidylserine binding|protein homodimerization activity	g.chr1:150960778A>G	AJ009985	CCDS975.2	1q21.2	2008-02-05			ENSG00000143412	ENSG00000143412		"Annexins"	547	protein-coding gene	gene with protein product		603319		ANX31		9742942, 9931420	Standard	NM_003568		Approved		uc001ewa.2	O76027	OTTHUMG00000035063	ENST00000368947.4:c.813A>G	1.37:g.150960778A>G							p.T271T	NM_003568.2	NP_003559.2	O76027	ANXA9_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)		12	1289	+	all_lung(15;1.09e-34)|Lung NSC(24;1.1e-30)|Lung SC(34;0.00202)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		271					Q5SZF1|Q6FI55|Q9BS00|Q9HBJ6	Silent	SNP	ENST00000368947.4	37	c.813A>G	CCDS975.2																																																																																				0.502	ANXA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084895.2	NM_003568		10	95	0	0	0	1	0	10	95					G	150960778	A	G	150960778	2	3	435	1	0	0	0	0	0	0	0	1	725	146	6	4		4	ANXA9	1	150960778	Silent	SNP	A	TCGA-XK-AAIW-01A-11D-A41K-08	20210	150960778	98289843	553	21478											
BNIPL	149428	broad.mit.edu	37	chr1	151016175	151016175	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttccacctctaagctggataCgtcagtgttaccgtaccctg	8	12	8	13	2	2	0	1	0	1	0	3	1	3	1	4	1	4	3	4	1	4	5	rs139447919	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:151016175C>T	ENST00000368931.3	+	7	979	c.823C>T	c.(823-825)Cgt>Tgt	p.R275C	BNIPL_ENST00000295294.7_Missense_Mutation_p.R193C	NM_138278.3	NP_612122.2	Q7Z465	BNIPL_HUMAN	BCL2/adenovirus E1B 19kD interacting protein like	275	CRAL-TRIO. {ECO:0000255|PROSITE- ProRule:PRU00056}.				apoptotic process (GO:0006915)|negative regulation of cell proliferation (GO:0008285)|regulation of growth rate (GO:0040009)	cytosol (GO:0005829)|nucleus (GO:0005634)	identical protein binding (GO:0042802)			autonomic_ganglia(1)|endometrium(3)|large_intestine(1)|lung(4)|skin(1)	10	Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			AAGCTGGATACGTCAGTGTTA	0.478																																						ENST00000295294.7																			0				autonomic_ganglia(1)|endometrium(3)|large_intestine(1)|lung(4)|skin(1)	10						c.(577-579)Cgt>Tgt		BCL2/adenovirus E1B 19kD interacting protein like		C	CYS/ARG,CYS/ARG	4,4402	8.1+/-20.4	0,4,2199	112	100	104		577,823	4.2	1	1	dbSNP_134	104	0,8600		0,0,4300	yes	missense,missense	BNIPL	NM_001159642.1,NM_138278.3	180,180	0,4,6499	TT,TC,CC		0.0,0.0908,0.0308	probably-damaging,probably-damaging	193/276,275/358	151016175	4,13002	2203	4300	6503	SO:0001583	missense	149428				apoptosis|induction of apoptosis|negative regulation of cell proliferation|regulation of growth rate	cytosol|nucleus	identical protein binding	g.chr1:151016175C>T	AF193056	CCDS978.2, CCDS53362.1	1q21.2	2008-02-05			ENSG00000163141	ENSG00000163141			16976	protein-coding gene	gene with protein product		611275				12681488, 11741952	Standard	NM_138278		Approved	BNIPl-1, BNIPL-2, PP753	uc001ewl.2	Q7Z465	OTTHUMG00000035157	ENST00000368931.3:c.823C>T	1.37:g.151016175C>T	ENSP00000357927:p.Arg275Cys					BNIPL_ENST00000368931.3_Missense_Mutation_p.R275C	p.R193C	NM_001159642.1	NP_001153114.1	Q7Z465	BNIPL_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)		7	1186	+	Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		275			CRAL-TRIO.		Q6DK43|Q8TCY7|Q8WYG2	Missense_Mutation	SNP	ENST00000368931.3	37	c.577C>T	CCDS978.2	.	.	.	.	.	.	.	.	.	.	C	17.73	3.462589	0.63513	9.08E-4	0.0	ENSG00000163141	ENST00000368931;ENST00000361277;ENST00000295294	T;T;T	0.28895	1.59;1.59;1.59	5.13	4.19	0.49359	Cellular retinaldehyde-binding/triple function, C-terminal (5);	0.128359	0.48286	D	0.000188	T	0.34861	0.0912	L	0.55481	1.735	0.30366	N	0.783316	D	0.89917	1.0	D	0.78314	0.991	T	0.21415	-1.0246	10	0.87932	D	0	.	10.5007	0.44804	0.3525:0.6475:0.0:0.0	.	275	Q7Z465	BNIPL_HUMAN	C	275;273;193	ENSP00000357927:R275C;ENSP00000355333:R273C;ENSP00000295294:R193C	ENSP00000295294:R193C	R	+	1	0	BNIPL	149282799	0.000000	0.05858	0.986000	0.45419	0.980000	0.70556	0.195000	0.17155	1.333000	0.45449	0.561000	0.74099	CGT		0.478	BNIPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085092.1	NM_138279		19	31	0	0	0	1	0	19	31					T	151016175	C	T	151016175	3	4	435	1	0	0	0	0	1	0	0	0	1480	536	19	1	849	1	BNIPL	1	151016175	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	55397	151016175	98234446	554	21479											
PI4KB	5298	broad.mit.edu	37	chr1	151278675	151278675	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcatcgttgtcatagttgggCacagtgctgaagctgccagc	8	11	12	10	1	2	1	2	1	0	0	3	1	2	1	1	1	4	5	1	1	2	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:151278675C>T	ENST00000368873.1	-	5	1515	c.1347G>A	c.(1345-1347)gtG>gtA	p.V449V	PI4KB_ENST00000368874.4_Silent_p.V434V|PI4KB_ENST00000368872.1_Silent_p.V434V|PI4KB_ENST00000529142.1_Silent_p.V117V|PI4KB_ENST00000271657.5_Silent_p.V461V|PI4KB_ENST00000368875.2_Silent_p.V461V			Q9UBF8	PI4KB_HUMAN	phosphatidylinositol 4-kinase, catalytic, beta	449					phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|receptor-mediated endocytosis (GO:0006898)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi membrane (GO:0000139)|mitochondrial outer membrane (GO:0005741)|plasma membrane (GO:0005886)	1-phosphatidylinositol 4-kinase activity (GO:0004430)|ATP binding (GO:0005524)			breast(3)|endometrium(5)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	27	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			CATAGTTGGGCACAGTGCTGA	0.567																																					Colon(154;765 1838 9854 28443 37492)	ENST00000368875.2																			0				breast(3)|endometrium(5)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	27						c.(1381-1383)gtG>gtA		phosphatidylinositol 4-kinase, catalytic, beta							116	96	103					1																	151278675		2203	4300	6503	SO:0001819	synonymous_variant	5298				phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|receptor-mediated endocytosis	endosome|Golgi apparatus|mitochondrial outer membrane|perinuclear region of cytoplasm|rough endoplasmic reticulum membrane	1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding	g.chr1:151278675C>T	AB005910	CCDS993.1, CCDS55637.1, CCDS55638.1	1q21	2008-02-05	2007-08-14	2007-08-02	ENSG00000143393	ENSG00000143393			8984	protein-coding gene	gene with protein product		602758		PIK4CB		9020160, 9405938	Standard	NM_002651		Approved	PI4K-BETA, pi4K92	uc001exu.3	Q9UBF8	OTTHUMG00000012348	ENST00000368873.1:c.1347G>A	1.37:g.151278675C>T						PI4KB_ENST00000368873.1_Silent_p.V449V|PI4KB_ENST00000529142.1_Silent_p.V117V|PI4KB_ENST00000271657.5_Silent_p.V461V|PI4KB_ENST00000368872.1_Silent_p.V434V|PI4KB_ENST00000368874.4_Silent_p.V434V	p.V461V	NM_002651.2	NP_002642.1	Q9UBF8	PI4KB_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)		6	1963	-	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		449					B4DGI2|O15096|P78405|Q5VWB9|Q5VWC0|Q5VWC1|Q9BWR6	Silent	SNP	ENST00000368873.1	37	c.1383G>A																																																																																					0.567	PI4KB-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000034400.3	NM_002651		30	37	0	0	0	1	0	30	37					T	151278675	C	T	151278675	2	4	435	1	0	0	0	0	0	0	0	1	11874	697	25	3		3	PI4KB	1	151278675	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	262500	151278675	97971946	555	21480											
RFX5	5993	broad.mit.edu	37	chr1	151316215	151316215	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gatcgggcagagatgagatgCtgctgtagcaggaagcgggc	10	6	18	7	2	0	2	0	1	0	2	1	6	0	3	0	3	4	5	0	3	2	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:151316215C>T	ENST00000290524.4	-	9	877	c.699G>A	c.(697-699)caG>caA	p.Q233Q	RP11-126K1.8_ENST00000422153.1_RNA|RFX5_ENST00000452513.2_Silent_p.Q193Q|RFX5_ENST00000368870.2_Silent_p.Q233Q|RFX5_ENST00000452671.2_Silent_p.Q233Q|RFX5_ENST00000478564.1_5'Flank	NM_000449.3|NM_001025603.1	NP_000440.1|NP_001020774.1	P48382	RFX5_HUMAN	regulatory factor X, 5 (influences HLA class II expression)	233					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	20	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			AGATGAGATGCTGCTGTAGCA	0.587																																						ENST00000290524.4																			0				endometrium(3)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	20						c.(697-699)caG>caA		regulatory factor X, 5 (influences HLA class II expression)							92	81	84					1																	151316215		2203	4300	6503	SO:0001819	synonymous_variant	5993					nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr1:151316215C>T		CCDS994.1	1q21	2014-09-17			ENSG00000143390	ENSG00000143390			9986	protein-coding gene	gene with protein product		601863				9401005	Standard	XM_005245405		Approved		uc001exw.1	P48382	OTTHUMG00000012495	ENST00000290524.4:c.699G>A	1.37:g.151316215C>T						RFX5_ENST00000452513.2_Silent_p.Q193Q|RFX5_ENST00000452671.2_Silent_p.Q233Q|RFX5_ENST00000368870.2_Silent_p.Q233Q	p.Q233Q	NM_000449.3|NM_001025603.1	NP_000440.1|NP_001020774.1	P48382	RFX5_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)		9	877	-	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		233					B7Z848|D3DV19|E9PFU4|Q5VWC3	Silent	SNP	ENST00000290524.4	37	c.699G>A	CCDS994.1																																																																																				0.587	RFX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034892.6	NM_000449		15	15	0	0	0	1	0	15	15					T	151316215	C	T	151316215	2	4	435	1	0	0	0	0	0	0	0	1	13266	796	28	3		3	RFX5	1	151316215	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	37540	151316215	97934406	556	21481											
RFX5	5993	broad.mit.edu	37	chr1	151316303	151316303	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agtcacaggtcagggcacacGctgcctccaccagttcatct	9	8	9	15	1	4	0	3	0	1	0	5	0	5	0	3	2	1	3	3	2	0	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:151316303G>A	ENST00000290524.4	-	9	789	c.611C>T	c.(610-612)gCg>gTg	p.A204V	RP11-126K1.8_ENST00000422153.1_RNA|RFX5_ENST00000452513.2_Missense_Mutation_p.A164V|RFX5_ENST00000368870.2_Missense_Mutation_p.A204V|RFX5_ENST00000452671.2_Missense_Mutation_p.A204V|RFX5_ENST00000478564.1_5'Flank	NM_000449.3|NM_001025603.1	NP_000440.1|NP_001020774.1	P48382	RFX5_HUMAN	regulatory factor X, 5 (influences HLA class II expression)	204					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	20	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			CAGGGCACACGCTGCCTCCAC	0.552																																						ENST00000290524.4																			0				endometrium(3)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	20						c.(610-612)gCg>gTg		regulatory factor X, 5 (influences HLA class II expression)							102	92	95					1																	151316303		2203	4300	6503	SO:0001583	missense	5993					nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr1:151316303G>A		CCDS994.1	1q21	2014-09-17			ENSG00000143390	ENSG00000143390			9986	protein-coding gene	gene with protein product		601863				9401005	Standard	XM_005245405		Approved		uc001exw.1	P48382	OTTHUMG00000012495	ENST00000290524.4:c.611C>T	1.37:g.151316303G>A	ENSP00000290524:p.Ala204Val					RFX5_ENST00000452513.2_Missense_Mutation_p.A164V|RFX5_ENST00000452671.2_Missense_Mutation_p.A204V|RFX5_ENST00000368870.2_Missense_Mutation_p.A204V	p.A204V	NM_000449.3|NM_001025603.1	NP_000440.1|NP_001020774.1	P48382	RFX5_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)		9	789	-	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		204					B7Z848|D3DV19|E9PFU4|Q5VWC3	Missense_Mutation	SNP	ENST00000290524.4	37	c.611C>T	CCDS994.1	.	.	.	.	.	.	.	.	.	.	G	34	5.370389	0.95900	.	.	ENSG00000143390	ENST00000290524;ENST00000368870;ENST00000436637;ENST00000452671;ENST00000452513;ENST00000392746;ENST00000422595	T;T;D;T;T;T;T	0.82344	-0.85;-0.85;-1.6;-0.85;-0.88;-0.85;-1.43	5.81	5.81	0.92471	.	0.056001	0.64402	D	0.000001	D	0.90734	0.7092	M	0.79926	2.475	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.76071	0.987;0.959	D	0.91189	0.4982	10	0.87932	D	0	-13.4958	18.6464	0.91411	0.0:0.0:1.0:0.0	.	164;204	B7Z848;P48382	.;RFX5_HUMAN	V	204;204;96;204;164;204;204	ENSP00000290524:A204V;ENSP00000357864:A204V;ENSP00000390769:A96V;ENSP00000389130:A204V;ENSP00000398388:A164V;ENSP00000376502:A204V;ENSP00000399095:A204V	ENSP00000290524:A204V	A	-	2	0	RFX5	149582927	1.000000	0.71417	1.000000	0.80357	0.929000	0.56500	8.940000	0.92958	2.746000	0.94184	0.655000	0.94253	GCG		0.552	RFX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034892.6	NM_000449		18	36	0	0	0	1	0	18	36					A	151316303	G	A	151316303	3	1	435	1	0	0	0	0	1	0	0	0	13266	1087	38	1	1251	1	RFX5	1	151316303	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	88	151316303	97934318	557	21482											
POGZ	23126	broad.mit.edu	37	chr1	151380973	151380973	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cattgaggaggtcagcggtgCtgcctcctgcaaggcgctgg	6	8	16	11	2	1	1	1	1	0	0	2	2	2	2	2	5	4	3	2	5	1	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:151380973C>T	ENST00000271715.2	-	14	2460	c.2146G>A	c.(2146-2148)Gca>Aca	p.A716T	POGZ_ENST00000540984.1_Missense_Mutation_p.A78T|POGZ_ENST00000531094.1_Missense_Mutation_p.A654T|POGZ_ENST00000392723.1_Missense_Mutation_p.A663T|POGZ_ENST00000368863.2_Missense_Mutation_p.A621T|POGZ_ENST00000409503.1_Missense_Mutation_p.A707T|POGZ_ENST00000361398.3_Missense_Mutation_p.A663T|POGZ_ENST00000491586.1_Missense_Mutation_p.A672T	NM_001194937.1|NM_015100.3	NP_001181866.1|NP_055915.2	Q7Z3K3	POGZ_HUMAN	pogo transposable element with ZNF domain	716					kinetochore assembly (GO:0051382)|mitotic sister chromatid cohesion (GO:0007064)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(10)|kidney(3)|large_intestine(10)|liver(2)|lung(11)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	47	Lung SC(34;0.00471)|Ovarian(49;0.00672)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			GTCAGCGGTGCTGCCTCCTGC	0.567																																						ENST00000271715.2																			0				NS(1)|breast(1)|endometrium(10)|kidney(3)|large_intestine(10)|liver(2)|lung(11)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	47						c.(2146-2148)Gca>Aca		pogo transposable element with ZNF domain							68	69	68					1																	151380973		2203	4300	6503	SO:0001583	missense	23126				cell division|kinetochore assembly|mitotic sister chromatid cohesion|regulation of transcription, DNA-dependent	cytoplasm|nuclear chromatin	DNA binding|protein binding|zinc ion binding	g.chr1:151380973C>T	AB007930	CCDS997.1, CCDS998.1, CCDS44222.1, CCDS44222.2, CCDS53365.1, CCDS53366.1	1q21.1	2013-07-22			ENSG00000143442	ENSG00000143442			18801	protein-coding gene	gene with protein product	"zinc finger protein 280E", "putative protein product of Nbla00003"	614787				10976766	Standard	NM_015100		Approved	KIAA0461, ZNF635m, ZNF280E	uc001eyd.2	Q7Z3K3	OTTHUMG00000012499	ENST00000271715.2:c.2146G>A	1.37:g.151380973C>T	ENSP00000271715:p.Ala716Thr					POGZ_ENST00000368863.2_Missense_Mutation_p.A621T|POGZ_ENST00000361398.3_Missense_Mutation_p.A663T|POGZ_ENST00000392723.1_Missense_Mutation_p.A663T|POGZ_ENST00000409503.1_Missense_Mutation_p.A707T|POGZ_ENST00000540984.1_Missense_Mutation_p.A78T|POGZ_ENST00000491586.1_Missense_Mutation_p.A672T|POGZ_ENST00000531094.1_Missense_Mutation_p.A654T	p.A716T	NM_001194937.1|NM_015100.3	NP_001181866.1|NP_055915.2	Q7Z3K3	POGZ_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)		14	2460	-	Lung SC(34;0.00471)|Ovarian(49;0.00672)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		716					B4DTP8|B4DYL9|B7ZBY5|E9PM80|O75049|Q3LIC4|Q5SZS1|Q5SZS2|Q5SZS3|Q5SZS4|Q8TDZ7|Q9Y4X7	Missense_Mutation	SNP	ENST00000271715.2	37	c.2146G>A	CCDS997.1	.	.	.	.	.	.	.	.	.	.	C	12.57	1.978199	0.34942	.	.	ENSG00000143442	ENST00000392723;ENST00000271715;ENST00000361398;ENST00000368863;ENST00000409503;ENST00000531094;ENST00000540984;ENST00000491586;ENST00000529669	T;T;T;T;T;T;T;T;T	0.30448	5.88;5.92;5.88;5.87;5.9;5.89;1.96;5.38;1.53	5.07	1.98	0.26296	.	0.484383	0.19326	N	0.117008	T	0.03959	0.0111	N	0.08118	0	0.09310	N	1	B;B;B;B;B;B	0.19331	0.02;0.0;0.013;0.001;0.035;0.02	B;B;B;B;B;B	0.17722	0.007;0.0;0.007;0.006;0.019;0.007	T	0.42699	-0.9436	10	0.23302	T	0.38	-0.1365	5.24	0.15467	0.0:0.6373:0.1663:0.1964	.	654;707;621;672;663;716	E9PM80;B7ZBY5;Q7Z3K3-5;Q7Z3K3-3;Q7Z3K3-2;Q7Z3K3	.;.;.;.;.;POGZ_HUMAN	T	663;716;663;621;707;654;78;672;116	ENSP00000376484:A663T;ENSP00000271715:A716T;ENSP00000354467:A663T;ENSP00000357856:A621T;ENSP00000386836:A707T;ENSP00000431259:A654T;ENSP00000443547:A78T;ENSP00000418408:A672T;ENSP00000432295:A116T	ENSP00000271715:A716T	A	-	1	0	POGZ	149647597	0.005000	0.15991	0.257000	0.24404	0.966000	0.64601	-0.114000	0.10757	0.241000	0.21283	-0.150000	0.13652	GCA		0.567	POGZ-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000034915.2	NM_207171		7	72	0	0	0	1	0	7	72					T	151380973	C	T	151380973	3	4	435	1	0	0	0	0	1	0	0	0	12186	797	28	3	2110	3	POGZ	1	151380973	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	64670	151380973	97869648	558	21483											
POGZ	23126	broad.mit.edu	37	chr1	151396574	151396574	+	Silent	SNP	G	G	A																															agtttggtctggacggcatcGcccacgttctcatttggttc																										TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:151396574G>A	ENST00000271715.2	-	9	1688	c.1374C>T	c.(1372-1374)ggC>ggT	p.G458G	POGZ_ENST00000540984.1_Intron|POGZ_ENST00000531094.1_Silent_p.G396G|POGZ_ENST00000392723.1_Silent_p.G405G|POGZ_ENST00000368863.2_Silent_p.G363G|POGZ_ENST00000409503.1_Silent_p.G449G|POGZ_ENST00000361398.3_Silent_p.G405G|POGZ_ENST00000491586.1_Silent_p.G405G	NM_001194937.1|NM_015100.3	NP_001181866.1|NP_055915.2	Q7Z3K3	POGZ_HUMAN	pogo transposable element with ZNF domain	458					kinetochore assembly (GO:0051382)|mitotic sister chromatid cohesion (GO:0007064)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(10)|kidney(3)|large_intestine(10)|liver(2)|lung(11)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	47	Lung SC(34;0.00471)|Ovarian(49;0.00672)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			GGACGGCATCGCCCACGTTCT	0.507																																						ENST00000271715.2																			0				NS(1)|breast(1)|endometrium(10)|kidney(3)|large_intestine(10)|liver(2)|lung(11)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	47						c.(1372-1374)ggC>ggT		pogo transposable element with ZNF domain							201	185	190					1																	151396574		2203	4300	6503	SO:0001819	synonymous_variant	23126				cell division|kinetochore assembly|mitotic sister chromatid cohesion|regulation of transcription, DNA-dependent	cytoplasm|nuclear chromatin	DNA binding|protein binding|zinc ion binding	g.chr1:151396574G>A	AB007930	CCDS997.1, CCDS998.1, CCDS44222.1, CCDS44222.2, CCDS53365.1, CCDS53366.1	1q21.1	2013-07-22			ENSG00000143442	ENSG00000143442			18801	protein-coding gene	gene with protein product	"zinc finger protein 280E", "putative protein product of Nbla00003"	614787				10976766	Standard	NM_015100		Approved	KIAA0461, ZNF635m, ZNF280E	uc001eyd.2	Q7Z3K3	OTTHUMG00000012499	ENST00000271715.2:c.1374C>T	1.37:g.151396574G>A						POGZ_ENST00000368863.2_Silent_p.G363G|POGZ_ENST00000361398.3_Silent_p.G405G|POGZ_ENST00000392723.1_Silent_p.G405G|POGZ_ENST00000409503.1_Silent_p.G449G|POGZ_ENST00000540984.1_Intron|POGZ_ENST00000491586.1_Silent_p.G405G|POGZ_ENST00000531094.1_Silent_p.G396G	p.G458G	NM_001194937.1|NM_015100.3	NP_001181866.1|NP_055915.2	Q7Z3K3	POGZ_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)		9	1688	-	Lung SC(34;0.00471)|Ovarian(49;0.00672)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		458					B4DTP8|B4DYL9|B7ZBY5|E9PM80|O75049|Q3LIC4|Q5SZS1|Q5SZS2|Q5SZS3|Q5SZS4|Q8TDZ7|Q9Y4X7	Silent	SNP	ENST00000271715.2	37	c.1374C>T	CCDS997.1																																																																																				0.507	POGZ-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000034915.2	NM_207171		27	51	0	0	0	1	0	27	51					A	151396574	G	A	151396574	2	1	435	1	0	0	0	0	0	0	0	1	12186	1074	38	1		1	POGZ	1	151396574	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	15601	151396574	97854047	559	21484	109	2									
POGZ	23126	broad.mit.edu	37	chr1	151396580	151396580	+	Silent	SNP	G	G	A																															gtctggacggcatcgcccacGttctcatttggttctggtac																										TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:151396580G>A	ENST00000271715.2	-	9	1682	c.1368C>T	c.(1366-1368)aaC>aaT	p.N456N	POGZ_ENST00000540984.1_Intron|POGZ_ENST00000531094.1_Silent_p.N394N|POGZ_ENST00000392723.1_Silent_p.N403N|POGZ_ENST00000368863.2_Silent_p.N361N|POGZ_ENST00000409503.1_Silent_p.N447N|POGZ_ENST00000361398.3_Silent_p.N403N|POGZ_ENST00000491586.1_Silent_p.N403N	NM_001194937.1|NM_015100.3	NP_001181866.1|NP_055915.2	Q7Z3K3	POGZ_HUMAN	pogo transposable element with ZNF domain	456					kinetochore assembly (GO:0051382)|mitotic sister chromatid cohesion (GO:0007064)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(10)|kidney(3)|large_intestine(10)|liver(2)|lung(11)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	47	Lung SC(34;0.00471)|Ovarian(49;0.00672)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			CATCGCCCACGTTCTCATTTG	0.507																																						ENST00000271715.2																			0				NS(1)|breast(1)|endometrium(10)|kidney(3)|large_intestine(10)|liver(2)|lung(11)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	47						c.(1366-1368)aaC>aaT		pogo transposable element with ZNF domain							203	189	194					1																	151396580		2203	4300	6503	SO:0001819	synonymous_variant	23126				cell division|kinetochore assembly|mitotic sister chromatid cohesion|regulation of transcription, DNA-dependent	cytoplasm|nuclear chromatin	DNA binding|protein binding|zinc ion binding	g.chr1:151396580G>A	AB007930	CCDS997.1, CCDS998.1, CCDS44222.1, CCDS44222.2, CCDS53365.1, CCDS53366.1	1q21.1	2013-07-22			ENSG00000143442	ENSG00000143442			18801	protein-coding gene	gene with protein product	"zinc finger protein 280E", "putative protein product of Nbla00003"	614787				10976766	Standard	NM_015100		Approved	KIAA0461, ZNF635m, ZNF280E	uc001eyd.2	Q7Z3K3	OTTHUMG00000012499	ENST00000271715.2:c.1368C>T	1.37:g.151396580G>A						POGZ_ENST00000368863.2_Silent_p.N361N|POGZ_ENST00000361398.3_Silent_p.N403N|POGZ_ENST00000392723.1_Silent_p.N403N|POGZ_ENST00000409503.1_Silent_p.N447N|POGZ_ENST00000540984.1_Intron|POGZ_ENST00000491586.1_Silent_p.N403N|POGZ_ENST00000531094.1_Silent_p.N394N	p.N456N	NM_001194937.1|NM_015100.3	NP_001181866.1|NP_055915.2	Q7Z3K3	POGZ_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)		9	1682	-	Lung SC(34;0.00471)|Ovarian(49;0.00672)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		456					B4DTP8|B4DYL9|B7ZBY5|E9PM80|O75049|Q3LIC4|Q5SZS1|Q5SZS2|Q5SZS3|Q5SZS4|Q8TDZ7|Q9Y4X7	Silent	SNP	ENST00000271715.2	37	c.1368C>T	CCDS997.1																																																																																				0.507	POGZ-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000034915.2	NM_207171		5	77	0	0	0	1	0	5	77					A	151396580	G	A	151396580	2	1	435	1	0	0	0	0	0	0	0	1	12186	1136	40	1		1	POGZ	1	151396580	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	6	151396580	97854041	560	21485	109	2									
POGZ	23126	broad.mit.edu	37	chr1	151396613	151396613	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctggtactttggtaggcggTgacagagcaggaataggtgt	9	11	16	5	1	1	2	0	1	1	1	1	3	1	3	0	6	2	3	0	6	4	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:151396613T>C	ENST00000271715.2	-	9	1649	c.1335A>G	c.(1333-1335)tcA>tcG	p.S445S	POGZ_ENST00000540984.1_Intron|POGZ_ENST00000531094.1_Silent_p.S383S|POGZ_ENST00000392723.1_Silent_p.S392S|POGZ_ENST00000368863.2_Silent_p.S350S|POGZ_ENST00000409503.1_Silent_p.S436S|POGZ_ENST00000361398.3_Silent_p.S392S|POGZ_ENST00000491586.1_Silent_p.S392S	NM_001194937.1|NM_015100.3	NP_001181866.1|NP_055915.2	Q7Z3K3	POGZ_HUMAN	pogo transposable element with ZNF domain	445					kinetochore assembly (GO:0051382)|mitotic sister chromatid cohesion (GO:0007064)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(10)|kidney(3)|large_intestine(10)|liver(2)|lung(11)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	47	Lung SC(34;0.00471)|Ovarian(49;0.00672)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			TGGTAGGCGGTGACAGAGCAG	0.512																																						ENST00000271715.2																			0				NS(1)|breast(1)|endometrium(10)|kidney(3)|large_intestine(10)|liver(2)|lung(11)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	47						c.(1333-1335)tcA>tcG		pogo transposable element with ZNF domain							214	209	210					1																	151396613		2203	4300	6503	SO:0001819	synonymous_variant	23126				cell division|kinetochore assembly|mitotic sister chromatid cohesion|regulation of transcription, DNA-dependent	cytoplasm|nuclear chromatin	DNA binding|protein binding|zinc ion binding	g.chr1:151396613T>C	AB007930	CCDS997.1, CCDS998.1, CCDS44222.1, CCDS44222.2, CCDS53365.1, CCDS53366.1	1q21.1	2013-07-22			ENSG00000143442	ENSG00000143442			18801	protein-coding gene	gene with protein product	"zinc finger protein 280E", "putative protein product of Nbla00003"	614787				10976766	Standard	NM_015100		Approved	KIAA0461, ZNF635m, ZNF280E	uc001eyd.2	Q7Z3K3	OTTHUMG00000012499	ENST00000271715.2:c.1335A>G	1.37:g.151396613T>C						POGZ_ENST00000368863.2_Silent_p.S350S|POGZ_ENST00000361398.3_Silent_p.S392S|POGZ_ENST00000392723.1_Silent_p.S392S|POGZ_ENST00000409503.1_Silent_p.S436S|POGZ_ENST00000540984.1_Intron|POGZ_ENST00000491586.1_Silent_p.S392S|POGZ_ENST00000531094.1_Silent_p.S383S	p.S445S	NM_001194937.1|NM_015100.3	NP_001181866.1|NP_055915.2	Q7Z3K3	POGZ_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)		9	1649	-	Lung SC(34;0.00471)|Ovarian(49;0.00672)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		445					B4DTP8|B4DYL9|B7ZBY5|E9PM80|O75049|Q3LIC4|Q5SZS1|Q5SZS2|Q5SZS3|Q5SZS4|Q8TDZ7|Q9Y4X7	Silent	SNP	ENST00000271715.2	37	c.1335A>G	CCDS997.1																																																																																				0.512	POGZ-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000034915.2	NM_207171		32	60	0	0	0	1	0	32	60					C	151396613	T	C	151396613	2	2	435	1	0	0	0	0	0	0	0	1	12186	1683	59	4		4	POGZ	1	151396613	Silent	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	33	151396613	97854008	561	21486											
CGN	57530	broad.mit.edu	37	chr1	151491123	151491123	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcgaggtggacgacgcccagCtaaggatgcaagagccagta	12	5	14	10	3	0	1	0	0	0	1	1	5	0	3	2	3	3	3	2	3	3	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:151491123C>T	ENST00000271636.7	+	2	261	c.128C>T	c.(127-129)gCt>gTt	p.A43V		NM_020770.2	NP_065821.1	Q9P2M7	CING_HUMAN	cingulin	37	Head.				transforming growth factor beta receptor signaling pathway (GO:0007179)	cell junction (GO:0030054)|myosin complex (GO:0016459)|tight junction (GO:0005923)	actin binding (GO:0003779)|motor activity (GO:0003774)			NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	45	Ovarian(49;0.0273)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		LUSC - Lung squamous cell carcinoma(543;0.181)			CGACGCCCAGCTAAGGATGCA	0.612																																						ENST00000271636.7																			0				NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	45						c.(127-129)gCt>gTt		cingulin							116	109	111					1																	151491123		2203	4300	6503	SO:0001583	missense	57530					myosin complex|tight junction	actin binding|motor activity	g.chr1:151491123C>T	AB037740	CCDS999.1	1q21	2008-02-05			ENSG00000143375	ENSG00000143375			17429	protein-coding gene	gene with protein product		609473				11042084, 12529927	Standard	NM_020770		Approved	KIAA1319	uc009wmw.3	Q9P2M7	OTTHUMG00000012497	ENST00000271636.7:c.128C>T	1.37:g.151491123C>T	ENSP00000271636:p.Ala43Val						p.A43V	NM_020770.2	NP_065821.1	Q9P2M7	CING_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.181)		2	261	+	Ovarian(49;0.0273)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		37			Head.		A6H8L3|A7MD22|Q5T386|Q9NR25	Missense_Mutation	SNP	ENST00000271636.7	37	c.128C>T	CCDS999.1	.	.	.	.	.	.	.	.	.	.	C	32	5.117901	0.94385	.	.	ENSG00000143375	ENST00000505188;ENST00000502442;ENST00000427934;ENST00000271636	T;T	0.64260	0.88;-0.09	4.75	4.75	0.60458	.	0.735597	0.13633	N	0.373549	T	0.63010	0.2475	L	0.60455	1.87	0.39419	D	0.96688	D	0.60575	0.988	P	0.54759	0.76	T	0.64854	-0.6309	10	0.59425	D	0.04	-1.3607	13.4429	0.61123	0.0:1.0:0.0:0.0	.	37	Q9P2M7	CING_HUMAN	V	43	ENSP00000410836:A43V;ENSP00000271636:A43V	ENSP00000271636:A43V	A	+	2	0	CGN	149757747	0.301000	0.24444	0.039000	0.18376	0.986000	0.74619	3.592000	0.53993	2.643000	0.89663	0.655000	0.94253	GCT		0.612	CGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034900.3	NM_020770		21	35	0	0	0	1	0	21	35					T	151491123	C	T	151491123	3	4	435	1	0	0	0	0	1	0	0	0	3303	797	28	3	130	3	CGN	1	151491123	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	94510	151491123	97759498	562	21487											
CGN	57530	broad.mit.edu	37	chr1	151503053	151503053	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caagcgggcactggaggcacGcctagaggaggctcagcggg	9	3	18	11	3	1	1	1	0	0	1	1	3	1	3	1	6	2	3	1	6	2	1	rs149778114		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:151503053G>A	ENST00000271636.7	+	13	2535	c.2402G>A	c.(2401-2403)cGc>cAc	p.R801H	SNORA44_ENST00000517031.1_RNA	NM_020770.2	NP_065821.1	Q9P2M7	CING_HUMAN	cingulin	795	Glu-rich.				transforming growth factor beta receptor signaling pathway (GO:0007179)	cell junction (GO:0030054)|myosin complex (GO:0016459)|tight junction (GO:0005923)	actin binding (GO:0003779)|motor activity (GO:0003774)			NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	45	Ovarian(49;0.0273)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		LUSC - Lung squamous cell carcinoma(543;0.181)			CTGGAGGCACGCCTAGAGGAG	0.687																																						ENST00000271636.7																			0				NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	45						c.(2401-2403)cGc>cAc		cingulin		G	HIS/ARG	1,4401		0,1,2200	21	25	24		2402	3.1	0.7	1	dbSNP_134	24	4,8590		0,4,4293	yes	missense	CGN	NM_020770.2	29	0,5,6493	AA,AG,GG		0.0465,0.0227,0.0385	probably-damaging	801/1204	151503053	5,12991	2201	4297	6498	SO:0001583	missense	57530					myosin complex|tight junction	actin binding|motor activity	g.chr1:151503053G>A	AB037740	CCDS999.1	1q21	2008-02-05			ENSG00000143375	ENSG00000143375			17429	protein-coding gene	gene with protein product		609473				11042084, 12529927	Standard	NM_020770		Approved	KIAA1319	uc009wmw.3	Q9P2M7	OTTHUMG00000012497	ENST00000271636.7:c.2402G>A	1.37:g.151503053G>A	ENSP00000271636:p.Arg801His						p.R801H	NM_020770.2	NP_065821.1	Q9P2M7	CING_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.181)		13	2535	+	Ovarian(49;0.0273)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		795			Glu-rich.		A6H8L3|A7MD22|Q5T386|Q9NR25	Missense_Mutation	SNP	ENST00000271636.7	37	c.2402G>A	CCDS999.1	.	.	.	.	.	.	.	.	.	.	G	18.59	3.657091	0.67586	2.27E-4	4.65E-4	ENSG00000143375	ENST00000271636	T	0.68765	-0.35	4.99	3.09	0.35607	.	0.465256	0.24426	N	0.038640	T	0.47395	0.1443	L	0.53249	1.67	0.22629	N	0.998914	D	0.57571	0.98	P	0.46339	0.513	T	0.36311	-0.9753	10	0.52906	T	0.07	-21.5027	8.0489	0.30566	0.255:0.0:0.745:0.0	.	795	Q9P2M7	CING_HUMAN	H	801	ENSP00000271636:R801H	ENSP00000271636:R801H	R	+	2	0	CGN	149769677	0.423000	0.25482	0.706000	0.30403	0.847000	0.48162	2.234000	0.43035	1.329000	0.45376	0.557000	0.71058	CGC		0.687	CGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034900.3	NM_020770		11	11	0	0	0	1	0	11	11					A	151503053	G	A	151503053	3	1	435	1	0	0	0	0	1	0	0	0	3303	1087	38	1	2448	1	CGN	1	151503053	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	11930	151503053	97747568	563	21488											
CELF3	11189	broad.mit.edu	37	chr1	151680022	151680022	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtggcgatgaggccattggCattgatggcagccatgtgct	7	10	16	8	1	0	2	0	2	0	0	0	3	0	2	2	5	2	3	2	5	0	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:151680022C>T	ENST00000290583.4	-	7	1526	c.733G>A	c.(733-735)Gcc>Acc	p.A245T	AL589765.1_ENST00000442233.2_5'Flank|CELF3_ENST00000392706.3_Missense_Mutation_p.A62T|CELF3_ENST00000470688.1_5'UTR|RP11-98D18.1_ENST00000457548.1_RNA|CELF3_ENST00000290585.4_Missense_Mutation_p.A245T|RIIAD1_ENST00000326413.3_5'Flank	NM_001172648.1|NM_007185.4	NP_001166119.1|NP_009116.3	Q5SZQ8	CELF3_HUMAN	CUGBP, Elav-like family member 3	245					mRNA splicing, via spliceosome (GO:0000398)|positive regulation of mRNA splicing, via spliceosome (GO:0048026)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing (GO:0008380)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)	21						AGGCCATTGGCATTGATGGCA	0.647																																						ENST00000290583.4																			0				central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)	21						c.(733-735)Gcc>Acc		CUGBP, Elav-like family member 3							31	29	30					1																	151680022		2203	4300	6503	SO:0001583	missense	11189				nuclear mRNA splicing, via spliceosome|regulation of alternative nuclear mRNA splicing, via spliceosome	cytoplasm|nucleus	mRNA binding|nucleotide binding	g.chr1:151680022C>T	U80759	CCDS1002.1, CCDS53367.1	1q21	2013-02-12	2010-02-19	2010-02-19	ENSG00000159409	ENSG00000159409		"Trinucleotide (CAG) repeat containing", "RNA binding motif (RRM) containing"	11967	protein-coding gene	gene with protein product	"expanded repeat domain, CAG/CTG 4", "CAG repeat domain", "CUG-BP and ETR-3 like factor 3"	612678	"trinucleotide repeat containing 4"	TNRC4		9225980	Standard	XM_005244859		Approved	CAGH4, BRUNOL1, ERDA4, MGC57297	uc001eys.2	Q5SZQ8	OTTHUMG00000013064	ENST00000290583.4:c.733G>A	1.37:g.151680022C>T	ENSP00000290583:p.Ala245Thr					CELF3_ENST00000290585.4_Missense_Mutation_p.A245T|CELF3_ENST00000470688.1_5'UTR|RP11-98D18.1_ENST00000457548.1_RNA|CELF3_ENST00000392706.3_Missense_Mutation_p.A62T	p.A245T	NM_001172648.1|NM_007185.4	NP_001166119.1|NP_009116.3	Q5SZQ8	CELF3_HUMAN			7	1526	-			245					B7ZKK6|O15414|Q499Y6|Q5SZQ7|Q6NVK0|Q8IZ98|Q9BZC2|Q9HB30	Missense_Mutation	SNP	ENST00000290583.4	37	c.733G>A	CCDS1002.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	10.41|10.41	1.342697|1.342697	0.24339|0.24339	.|.	.|.	ENSG00000159409|ENSG00000159409	ENST00000290585;ENST00000290583;ENST00000392706;ENST00000368833|ENST00000420342	T;T;T|.	0.17370|.	2.36;2.28;3.4|.	4.04|4.04	4.04|4.04	0.47022|0.47022	.|.	0.156736|.	0.41605|.	D|.	0.000844|.	T|T	0.37598|0.37598	0.1009|0.1009	L|L	0.50333|0.50333	1.59|1.59	0.38127|0.38127	D|D	0.938048|0.938048	P;B;B;P;B;P|.	0.46142|.	0.57;0.015;0.12;0.873;0.418;0.554|.	B;B;B;B;B;B|.	0.41813|.	0.138;0.007;0.131;0.367;0.092;0.132|.	T|T	0.37957|0.37957	-0.9683|-0.9683	10|5	0.35671|.	T|.	0.21|.	-4.3707|-4.3707	5.6612|5.6612	0.17670|0.17670	0.0:0.691:0.2024:0.1066|0.0:0.691:0.2024:0.1066	.|.	62;245;245;244;245;244|.	B4DQL3;Q5SZQ7;Q5SZQ8-2;F8W6B7;Q5SZQ8;Q5SZQ8-3|.	.;.;.;.;CELF3_HUMAN;.|.	T|I	245;245;62;244|245	ENSP00000290585:A245T;ENSP00000290583:A245T;ENSP00000376470:A62T|.	ENSP00000290583:A245T|.	A|M	-|-	1|3	0|0	CELF3|CELF3	149946646|149946646	0.821000|0.821000	0.29204|0.29204	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	0.396000|0.396000	0.20867|0.20867	2.094000|2.094000	0.63399|0.63399	0.650000|0.650000	0.86243|0.86243	GCC|ATG		0.647	CELF3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000036663.2	NM_007185		4	8	0	0	0	1	0	4	8					T	151680022	C	T	151680022	3	4	435	1	0	0	0	0	1	0	0	0	3217	710	25	3	688	3	CELF3	1	151680022	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	176969	151680022	97570599	564	21489											
TDRKH	11022	broad.mit.edu	37	chr1	151752566	151752566	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ataagcagcactcgctcatcGcctacatcctctgtgtccac	9	10	6	16	2	2	0	1	0	1	0	6	0	4	0	3	0	3	3	3	0	2	2	rs373154310	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:151752566G>A	ENST00000368822.1	-	4	915	c.282C>T	c.(280-282)ggC>ggT	p.G94G	TDRKH_ENST00000368824.3_Silent_p.G94G|TDRKH_ENST00000368825.3_Silent_p.G94G|TDRKH_ENST00000368827.6_Silent_p.G94G|TDRKH_ENST00000458431.2_Silent_p.G94G|TDRKH_ENST00000368823.1_Silent_p.G90G|TDRKH_ENST00000440583.2_5'UTR|TDRKH_ENST00000484421.1_5'UTR			Q9Y2W6	TDRKH_HUMAN	tudor and KH domain containing	94	KH 1. {ECO:0000255|PROSITE- ProRule:PRU00117}.				cell differentiation (GO:0030154)|DNA methylation involved in gamete generation (GO:0043046)|fertilization (GO:0009566)|gene silencing by RNA (GO:0031047)|male meiosis (GO:0007140)|piRNA metabolic process (GO:0034587)|spermatogenesis (GO:0007283)	mitochondrion (GO:0005739)|pi-body (GO:0071546)|piP-body (GO:0071547)	RNA binding (GO:0003723)			breast(5)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			CTCGCTCATCGCCTACATCCT	0.502													G|||	2	0.000399361	0	0	5008	,	,		19665	0.002		0	False		,,,				2504	0					ENST00000368822.1																			0				breast(5)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26						c.(280-282)ggC>ggT		tudor and KH domain containing							173	174	174					1																	151752566		2084	4228	6312	SO:0001819	synonymous_variant	11022						RNA binding	g.chr1:151752566G>A	AF227192	CCDS41394.1, CCDS41395.1	1q21	2013-01-23	2003-11-07		ENSG00000182134	ENSG00000182134		"Tudor domain containing"	11713	protein-coding gene	gene with protein product		609501	"tudor and KH domain containing"			10767542	Standard	NM_001083964		Approved	TDRD2	uc001eza.4	Q9Y2W6	OTTHUMG00000013062	ENST00000368822.1:c.282C>T	1.37:g.151752566G>A						TDRKH_ENST00000368827.6_Silent_p.G94G|TDRKH_ENST00000458431.2_Silent_p.G94G|TDRKH_ENST00000368823.1_Silent_p.G90G|TDRKH_ENST00000484421.1_5'UTR|TDRKH_ENST00000440583.2_5'UTR|TDRKH_ENST00000368825.3_Silent_p.G94G|TDRKH_ENST00000368824.3_Silent_p.G94G	p.G94G			Q9Y2W6	TDRKH_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.181)		4	915	-	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		94			KH 1.		D3DV24|Q5SZR3|Q5SZR5|Q8N582|Q9NYV5	Silent	SNP	ENST00000368822.1	37	c.282C>T	CCDS41394.1																																																																																				0.502	TDRKH-005	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000036648.2	NM_006862		24	59	0	0	0	1	0	24	59					A	151752566	G	A	151752566	2	1	435	1	0	0	0	0	0	0	0	1	15734	1074	38	1		1	TDRKH	1	151752566	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	72544	151752566	97498055	565	21490											
THEM5	284486	broad.mit.edu	37	chr1	151823652	151823652	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggatgcacctggtgaagatgCgacagtcacctttgtctggg	8	10	14	9	1	2	2	1	1	1	1	2	4	2	3	2	3	2	1	2	3	1	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:151823652C>T	ENST00000368817.5	-	3	472	c.341G>A	c.(340-342)cGc>cAc	p.R114H	AL450992.2_ENST00000434182.1_RNA	NM_182578.3	NP_872384	Q8N1Q8	ACO15_HUMAN	thioesterase superfamily member 5	114					cardiolipin acyl-chain remodeling (GO:0035965)|fatty acid metabolic process (GO:0006631)|long-chain fatty-acyl-CoA metabolic process (GO:0035336)	mitochondrial matrix (GO:0005759)	palmitoyl-CoA hydrolase activity (GO:0016290)			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(2)	15	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			GGTGAAGATGCGACAGTCACC	0.522																																						ENST00000368817.5																			0				breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(2)	15						c.(340-342)cGc>cAc		thioesterase superfamily member 5							148	140	143					1																	151823652		2203	4300	6503	SO:0001583	missense	284486						hydrolase activity	g.chr1:151823652C>T	AK095283	CCDS1005.1	1q21.3	2008-02-05			ENSG00000196407	ENSG00000196407			26755	protein-coding gene	gene with protein product		615653					Standard	NM_182578		Approved	FLJ37964	uc021oyw.1	Q8N1Q8	OTTHUMG00000013070	ENST00000368817.5:c.341G>A	1.37:g.151823652C>T	ENSP00000357807:p.Arg114His						p.R114H	NM_182578.3	NP_872384.1	Q8N1Q8	THEM5_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.181)		3	472	-	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		114					Q5T1C3	Missense_Mutation	SNP	ENST00000368817.5	37	c.341G>A	CCDS1005.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.12|19.12	3.766086|3.766086	0.69878|0.69878	.|.	.|.	ENSG00000196407|ENSG00000196407	ENST00000453881|ENST00000368817	.|T	.|0.22945	.|1.93	5.97|5.97	4.11|4.11	0.48088|0.48088	.|.	.|0.115026	.|0.64402	.|D	.|0.000011	T|T	0.35566|0.35566	0.0936|0.0936	M|M	0.80847|0.80847	2.515|2.515	0.31866|0.31866	N|N	0.620395|0.620395	.|D	.|0.89917	.|1.0	.|D	.|0.76071	.|0.987	T|T	0.34477|0.34477	-0.9827|-0.9827	5|10	.|0.42905	.|T	.|0.14	-0.8048|-0.8048	9.4847|9.4847	0.38922|0.38922	0.0:0.8367:0.0:0.1633|0.0:0.8367:0.0:0.1633	.|.	.|114	.|Q8N1Q8	.|THEM5_HUMAN	T|H	61|114	.|ENSP00000357807:R114H	.|ENSP00000357807:R114H	A|R	-|-	1|2	0|0	THEM5|THEM5	150090276|150090276	0.983000|0.983000	0.35010|0.35010	0.605000|0.605000	0.28930|0.28930	0.870000|0.870000	0.49936|0.49936	2.441000|2.441000	0.44864|0.44864	0.865000|0.865000	0.35603|0.35603	0.655000|0.655000	0.94253|0.94253	GCA|CGC		0.522	THEM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036678.2	NM_182578		8	63	0	0	0	1	0	8	63					T	151823652	C	T	151823652	3	4	435	1	0	0	0	0	1	0	0	0	15856	768	27	1	418	1	THEM5	1	151823652	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	71086	151823652	97426969	566	21491											
TCHH	7062	broad.mit.edu	37	chr1	152079962	152079962	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtgccgggctccagaagccGcccatggcccttcccttctt	5	9	10	17	2	1	1	0	0	1	1	3	1	3	1	6	2	2	1	6	2	1	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:152079962G>A	ENST00000368804.1	-	2	5730	c.5731C>T	c.(5731-5733)Cgg>Tgg	p.R1911W		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	1911					keratinization (GO:0031424)	cytoskeleton (GO:0005856)	calcium ion binding (GO:0005509)			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCCAGAAGCCGCCCATGGCCC	0.562																																						ENST00000368804.1																			0				NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105						c.(5731-5733)Cgg>Tgg		trichohyalin							128	131	130					1																	152079962		1958	4134	6092	SO:0001583	missense	7062				keratinization	cytoskeleton	calcium ion binding	g.chr1:152079962G>A	L09190	CCDS41396.1	1q21-q23	2013-01-10		2006-01-27	ENSG00000159450	ENSG00000159450		"EF-hand domain containing"	11791	protein-coding gene	gene with protein product		190370		THH		1431214	Standard	NM_007113		Approved		uc001ezp.3	Q07283	OTTHUMG00000013066	ENST00000368804.1:c.5731C>T	1.37:g.152079962G>A	ENSP00000357794:p.Arg1911Trp						p.R1911W	NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	5730	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1911					Q5VUI3	Missense_Mutation	SNP	ENST00000368804.1	37	c.5731C>T	CCDS41396.1	.	.	.	.	.	.	.	.	.	.	g	5.886	0.347592	0.11126	.	.	ENSG00000159450	ENST00000368804	T	0.06294	3.32	2.55	2.55	0.30701	.	.	.	.	.	T	0.02688	0.0081	N	0.08118	0	0.09310	N	1	D	0.69078	0.997	P	0.56163	0.793	T	0.45116	-0.9283	9	0.72032	D	0.01	-3.0641	8.3021	0.32021	0.0:0.0:1.0:0.0	.	1911	Q07283	TRHY_HUMAN	W	1911	ENSP00000357794:R1911W	ENSP00000357794:R1911W	R	-	1	2	TCHH	150346586	0.002000	0.14202	0.030000	0.17652	0.209000	0.24338	0.630000	0.24553	1.273000	0.44346	0.306000	0.20318	CGG		0.562	TCHH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036671.2	NM_007113		28	38	0	0	0	1	0	28	38					A	152079962	G	A	152079962	3	1	435	1	0	0	0	0	1	0	0	0	15697	1086	38	1	104	1	TCHH	1	152079962	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	256310	152079962	97170659	567	21492											
TCHH	7062	broad.mit.edu	37	chr1	152082617	152082617	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgctcttcttcctgctgcaGctcgtcttttttgcggtact	2	18	8	13	2	3	0	0	0	3	0	5	0	4	0	1	1	6	5	1	1	1	6			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:152082617G>A	ENST00000368804.1	-	2	3075	c.3076C>T	c.(3076-3078)Ctg>Ttg	p.L1026L		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	1026	10 X 30 AA tandem repeats.				keratinization (GO:0031424)	cytoskeleton (GO:0005856)	calcium ion binding (GO:0005509)			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCCTGCTGCAGCTCGTCTTTT	0.577																																						ENST00000368804.1																			0				NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105						c.(3076-3078)Ctg>Ttg		trichohyalin							105	107	106					1																	152082617		1982	4148	6130	SO:0001819	synonymous_variant	7062				keratinization	cytoskeleton	calcium ion binding	g.chr1:152082617G>A	L09190	CCDS41396.1	1q21-q23	2013-01-10		2006-01-27	ENSG00000159450	ENSG00000159450		"EF-hand domain containing"	11791	protein-coding gene	gene with protein product		190370		THH		1431214	Standard	NM_007113		Approved		uc001ezp.3	Q07283	OTTHUMG00000013066	ENST00000368804.1:c.3076C>T	1.37:g.152082617G>A							p.L1026L	NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	3075	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1026			10 X 30 AA tandem repeats.		Q5VUI3	Silent	SNP	ENST00000368804.1	37	c.3076C>T	CCDS41396.1																																																																																				0.577	TCHH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036671.2	NM_007113		42	90	0	0	0	1	0	42	90					A	152082617	G	A	152082617	2	1	435	1	0	0	0	0	0	0	0	1	15697	962	34	3		3	TCHH	1	152082617	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	2655	152082617	97168004	568	21493											
HRNR	388697	broad.mit.edu	37	chr1	152187858	152187858	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	accggagccagacccatgtcGgccatagctgggagactgcc	9	5	13	14	2	0	2	0	0	0	2	1	4	0	3	5	3	3	1	5	3	1	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:152187858G>A	ENST00000368801.2	-	3	6322	c.6247C>T	c.(6247-6249)Cga>Tga	p.R2083*	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	2083					establishment of skin barrier (GO:0061436)|hematopoietic progenitor cell differentiation (GO:0002244)|keratinization (GO:0031424)	cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GACCCATGTCGGCCATAGCTG	0.622																																						ENST00000368801.2																			0				autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192						c.(6247-6249)Cga>Tga		hornerin							41	34	37					1																	152187858		2185	4278	6463	SO:0001587	stop_gained	388697				keratinization		calcium ion binding|protein binding	g.chr1:152187858G>A	AB104446	CCDS30859.1	1q21.3	2013-01-10			ENSG00000197915	ENSG00000197915		"EF-hand domain containing"	20846	protein-coding gene	gene with protein product	"filaggrin family member 3"						Standard	NM_001009931		Approved	S100a18, S100A16, FLG3	uc001ezt.2	Q86YZ3	OTTHUMG00000012243	ENST00000368801.2:c.6247C>T	1.37:g.152187858G>A	ENSP00000357791:p.Arg2083*					FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	p.R2083*	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	6322	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		2083					Q5DT20|Q5U1F4	Nonsense_Mutation	SNP	ENST00000368801.2	37	c.6247C>T	CCDS30859.1	.	.	.	.	.	.	.	.	.	.	-	44	10.640077	0.99442	.	.	ENSG00000197915	ENST00000368801	.	.	.	3.76	0.302	0.15786	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.13470	T	0.59	.	4.9142	0.13839	0.1098:0.0:0.3403:0.5499	.	.	.	.	X	2083	.	ENSP00000357791:R2083X	R	-	1	2	HRNR	150454482	.	.	0.000000	0.03702	0.000000	0.00434	.	.	0.316000	0.23135	0.609000	0.83330	CGA		0.622	HRNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034016.1	XM_373868		33	73	0	0	0	1	0	33	73					A	152187858	G	A	152187858	4	1	435	1	0	0	0	0	0	1	0	0	7359	1124	39	2	2309	2	HRNR	1	152187858	Nonsense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	105241	152187858	97062763	569	21494											
HRNR	388697	broad.mit.edu	37	chr1	152192191	152192191	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgacttgagccagagccatgCtgaccgtggctggaagactg	9	8	14	10	1	0	5	0	3	0	2	0	6	0	6	3	2	3	2	3	2	1	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:152192191C>G	ENST00000368801.2	-	3	1989	c.1914G>C	c.(1912-1914)caG>caC	p.Q638H	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	638					establishment of skin barrier (GO:0061436)|hematopoietic progenitor cell differentiation (GO:0002244)|keratinization (GO:0031424)	cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CAGAGCCATGCTGACCGTGGC	0.567																																						ENST00000368801.2																			0				autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192						c.(1912-1914)caG>caC		hornerin							231	226	228					1																	152192191		2203	4300	6503	SO:0001583	missense	388697				keratinization		calcium ion binding|protein binding	g.chr1:152192191C>G	AB104446	CCDS30859.1	1q21.3	2013-01-10			ENSG00000197915	ENSG00000197915		"EF-hand domain containing"	20846	protein-coding gene	gene with protein product	"filaggrin family member 3"						Standard	NM_001009931		Approved	S100a18, S100A16, FLG3	uc001ezt.2	Q86YZ3	OTTHUMG00000012243	ENST00000368801.2:c.1914G>C	1.37:g.152192191C>G	ENSP00000357791:p.Gln638His					FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	p.Q638H	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	1989	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		638					Q5DT20|Q5U1F4	Missense_Mutation	SNP	ENST00000368801.2	37	c.1914G>C	CCDS30859.1	.	.	.	.	.	.	.	.	.	.	-	5.126	0.208772	0.09757	.	.	ENSG00000197915	ENST00000368801	T	0.05258	3.47	4.03	-8.06	0.01102	.	.	.	.	.	T	0.00724	0.0024	N	0.08118	0	0.09310	N	1	B	0.15930	0.015	B	0.10450	0.005	T	0.48625	-0.9019	9	0.40728	T	0.16	.	4.0782	0.09914	0.1018:0.1829:0.0944:0.6208	.	638	Q86YZ3	HORN_HUMAN	H	638	ENSP00000357791:Q638H	ENSP00000357791:Q638H	Q	-	3	2	HRNR	150458815	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.906000	0.01590	-1.673000	0.01462	-0.852000	0.03032	CAG		0.567	HRNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034016.1	XM_373868		36	161	0	0	0	1	0	36	161					G	152192191	C	G	152192191	3	3	435	1	0	0	0	0	1	0	0	0	7359	796	28	5	6642	5	HRNR	1	152192191	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	4333	152192191	97058430	570	21495											
HRNR	388697	broad.mit.edu	37	chr1	152192932	152192932	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagactgacgtgagctggaGccatgttggccagagcttga	10	8	15	8	1	0	5	0	3	0	2	0	7	0	6	2	2	3	3	2	2	1	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:152192932G>T	ENST00000368801.2	-	3	1248	c.1173C>A	c.(1171-1173)ggC>ggA	p.G391G	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	391					establishment of skin barrier (GO:0061436)|hematopoietic progenitor cell differentiation (GO:0002244)|keratinization (GO:0031424)	cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GTGAGCTGGAGCCATGTTGGC	0.577																																						ENST00000368801.2																			0				autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192						c.(1171-1173)ggC>ggA		hornerin							168	144	152					1																	152192932		2203	4300	6503	SO:0001819	synonymous_variant	388697				keratinization		calcium ion binding|protein binding	g.chr1:152192932G>T	AB104446	CCDS30859.1	1q21.3	2013-01-10			ENSG00000197915	ENSG00000197915		"EF-hand domain containing"	20846	protein-coding gene	gene with protein product	"filaggrin family member 3"						Standard	NM_001009931		Approved	S100a18, S100A16, FLG3	uc001ezt.2	Q86YZ3	OTTHUMG00000012243	ENST00000368801.2:c.1173C>A	1.37:g.152192932G>T						FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	p.G391G	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	1248	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		391					Q5DT20|Q5U1F4	Silent	SNP	ENST00000368801.2	37	c.1173C>A	CCDS30859.1																																																																																				0.577	HRNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034016.1	XM_373868		26	56	1	0	3.01185e-09	1	3.19065e-09	26	56					T	152192932	G	T	152192932	2	4	435	1	0	0	0	0	0	0	0	1	7359	958	34	5		5	HRNR	1	152192932	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	741	152192932	97057689	571	21496											
FLG	2312	broad.mit.edu	37	chr1	152275878	152275878	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggaagcttcatggtgacgCgaccctgagtgcctggagcc	7	8	15	11	2	1	2	1	2	0	0	1	5	1	4	3	3	3	1	3	3	1	1	rs370872906		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:152275878C>T	ENST00000368799.1	-	3	11519	c.11484G>A	c.(11482-11484)tcG>tcA	p.S3828S	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3828	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CATGGTGACGCGACCCTGAGT	0.587									Ichthyosis																													ENST00000368799.1																			0				autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424						c.(11482-11484)tcG>tcA		filaggrin		C		0,4406		0,0,2203	287	286	286		11484	-4.6	0	1		286	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	FLG	NM_002016.1		0,2,6501	TT,TC,CC		0.0233,0.0,0.0154		3828/4062	152275878	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152275878C>T	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"EF-hand domain containing"	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.11484G>A	1.37:g.152275878C>T						FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	p.S3828S	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	11519	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		3828			Ser-rich.		Q01720|Q5T583|Q9UC71	Silent	SNP	ENST00000368799.1	37	c.11484G>A	CCDS30860.1																																																																																				0.587	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		105	155	0	0	0	1	0	105	155					T	152275878	C	T	152275878	2	4	435	1	0	0	0	0	0	0	0	1	5922	755	27	1		1	FLG	1	152275878	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	82946	152275878	96974743	572	21497											
FLG2	388698	broad.mit.edu	37	chr1	152326915	152326915	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctgagcccgatccatattggCcaaagccagaggactgacct	11	7	10	13	1	0	3	0	2	0	1	1	5	1	4	5	2	2	0	5	2	2	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:152326915C>T	ENST00000388718.5	-	3	3419	c.3347G>A	c.(3346-3348)gGc>gAc	p.G1116D	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	1116	Ser-rich.				establishment of skin barrier (GO:0061436)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCCATATTGGCCAAAGCCAGA	0.502																																						ENST00000388718.5																			0				NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188						c.(3346-3348)gGc>gAc		filaggrin family member 2							235	240	238					1																	152326915		2203	4300	6503	SO:0001583	missense	388698						calcium ion binding|structural molecule activity	g.chr1:152326915C>T	AY827490	CCDS30861.1	1q21.3	2013-01-10			ENSG00000143520	ENSG00000143520		"EF-hand domain containing"	33276	protein-coding gene	gene with protein product						12477932	Standard	NM_001014342		Approved	IFPS	uc001ezw.4	Q5D862	OTTHUMG00000012245	ENST00000388718.5:c.3347G>A	1.37:g.152326915C>T	ENSP00000373370:p.Gly1116Asp					FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	p.G1116D	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	3419	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1116			Ser-rich.		Q9H4U1	Missense_Mutation	SNP	ENST00000388718.5	37	c.3347G>A	CCDS30861.1	.	.	.	.	.	.	.	.	.	.	C	9.933	1.215466	0.22373	.	.	ENSG00000143520	ENST00000388718	T	0.24908	1.83	4.78	2.8	0.32819	.	.	.	.	.	T	0.06781	0.0173	L	0.43152	1.355	0.09310	N	1	B	0.21309	0.054	B	0.15870	0.014	T	0.35699	-0.9778	9	0.16420	T	0.52	.	7.3026	0.26430	0.0:0.7753:0.0:0.2247	.	1116	Q5D862	FILA2_HUMAN	D	1116	ENSP00000373370:G1116D	ENSP00000373370:G1116D	G	-	2	0	FLG2	150593539	0.000000	0.05858	0.001000	0.08648	0.111000	0.19643	-0.292000	0.08332	0.946000	0.37632	0.558000	0.71614	GGC		0.502	FLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034018.5	NM_001014342		89	165	0	0	0	1	0	89	165					T	152326915	C	T	152326915	3	4	435	1	0	0	0	0	1	0	0	0	5923	739	26	3	3832	3	FLG2	1	152326915	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	51037	152326915	96923706	573	21498											
FLG2	388698	broad.mit.edu	37	chr1	152327725	152327725	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ttgagccagaaccatgttggCcatagctggactgatgtgat	10	11	12	8	0	0	4	0	3	0	1	0	5	0	5	3	2	3	2	3	2	2	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:152327725C>T	ENST00000388718.5	-	3	2609	c.2537G>A	c.(2536-2538)gGc>gAc	p.G846D	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	846	Ser-rich.				establishment of skin barrier (GO:0061436)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ACCATGTTGGCCATAGCTGGA	0.522																																						ENST00000388718.5																			0				NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188						c.(2536-2538)gGc>gAc		filaggrin family member 2							350	328	335					1																	152327725		2203	4300	6503	SO:0001583	missense	388698						calcium ion binding|structural molecule activity	g.chr1:152327725C>T	AY827490	CCDS30861.1	1q21.3	2013-01-10			ENSG00000143520	ENSG00000143520		"EF-hand domain containing"	33276	protein-coding gene	gene with protein product						12477932	Standard	NM_001014342		Approved	IFPS	uc001ezw.4	Q5D862	OTTHUMG00000012245	ENST00000388718.5:c.2537G>A	1.37:g.152327725C>T	ENSP00000373370:p.Gly846Asp					FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	p.G846D	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	2609	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		846			Ser-rich.		Q9H4U1	Missense_Mutation	SNP	ENST00000388718.5	37	c.2537G>A	CCDS30861.1	.	.	.	.	.	.	.	.	.	.	C	11.64	1.700039	0.30142	.	.	ENSG00000143520	ENST00000388718	T	0.26223	1.75	3.69	2.75	0.32379	.	.	.	.	.	T	0.25568	0.0622	M	0.69823	2.125	0.09310	N	1	D	0.76494	0.999	P	0.61275	0.886	T	0.04307	-1.0961	9	0.30854	T	0.27	-3.8054	6.5287	0.22314	0.0:0.7608:0.0:0.2392	.	846	Q5D862	FILA2_HUMAN	D	846	ENSP00000373370:G846D	ENSP00000373370:G846D	G	-	2	0	FLG2	150594349	0.000000	0.05858	0.002000	0.10522	0.005000	0.04900	0.740000	0.26188	1.583000	0.49898	0.650000	0.86243	GGC		0.522	FLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034018.5	NM_001014342		126	180	0	0	0	1	0	126	180					T	152327725	C	T	152327725	3	4	435	1	0	0	0	0	1	0	0	0	5923	739	26	3	4642	3	FLG2	1	152327725	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	810	152327725	96922896	574	21499											
LCE2B	26239	broad.mit.edu	37	chr1	152659385	152659385	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtcctcccaagtgtaccccAaaatgtccacctaagtgtcc	10	10	6	15	0	0	0	0	0	0	0	4	0	4	0	7	0	1	1	7	0	5	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:152659385A>G	ENST00000368780.3	+	2	120	c.66A>G	c.(64-66)ccA>ccG	p.P22P	LCE2B_ENST00000417924.2_Silent_p.P22P	NM_014357.4	NP_055172.1	O14633	LCE2B_HUMAN	late cornified envelope 2B	22	Cys-rich.|Pro-rich.				epidermis development (GO:0008544)|keratinization (GO:0031424)					endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	11	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			AGTGTACCCCAAAATGTCCAC	0.547																																						ENST00000368780.3																			0				endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	11						c.(64-66)ccA>ccG		late cornified envelope 2B							119	118	118					1																	152659385		2203	4300	6503	SO:0001819	synonymous_variant	26239				keratinization			g.chr1:152659385A>G	BI670514	CCDS1020.1	1q21	2008-02-05	2004-10-11	2004-10-15	ENSG00000159455	ENSG00000159455		"Late cornified envelopes"	16610	protein-coding gene	gene with protein product		612610	"small proline rich-like (epidermal differentiation complex) 1B"	SPRL1B		11698679, 9344646	Standard	NM_014357		Approved	LEP10, XP5	uc001fai.3	O14633	OTTHUMG00000012404	ENST00000368780.3:c.66A>G	1.37:g.152659385A>G						LCE2B_ENST00000417924.2_Silent_p.P22P	p.P22P	NM_014357.4	NP_055172.1	O14633	LCE2B_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	120	+	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		22			Cys-rich.|Pro-rich.		Q5TA80	Silent	SNP	ENST00000368780.3	37	c.66A>G	CCDS1020.1																																																																																				0.547	LCE2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034524.1	NM_014357		4	102	0	0	0	1	0	4	102					G	152659385	A	G	152659385	2	3	435	1	0	0	0	0	0	0	0	1	8666	117	5	4		4	LCE2B	1	152659385	Silent	SNP	A	TCGA-XK-AAIW-01A-11D-A41K-08	331660	152659385	96591236	575	21500											
KPRP	448834	broad.mit.edu	37	chr1	152733421	152733421	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagttccccttcctcgcccaGggcagtgtgagattccagag	7	9	11	14	1	0	2	0	1	0	2	4	3	3	2	5	1	0	2	5	1	0	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:152733421G>T	ENST00000606109.1	+	1	1385	c.1357G>T	c.(1357-1359)Ggg>Tgg	p.G453W	KPRP_ENST00000368773.1_Missense_Mutation_p.G453W			Q5T749	KPRP_HUMAN	keratinocyte proline-rich protein	453	Pro-rich.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)				NS(1)|breast(1)|endometrium(9)|kidney(1)|large_intestine(10)|lung(21)|ovary(6)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCCTCGCCCAGGGCAGTGTGA	0.617																																						ENST00000368773.1																			0				NS(1)|breast(1)|endometrium(9)|kidney(1)|large_intestine(10)|lung(21)|ovary(6)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						c.(1357-1359)Ggg>Tgg		keratinocyte proline-rich protein							146	146	146					1																	152733421		2203	4300	6503	SO:0001583	missense	448834					cytoplasm		g.chr1:152733421G>T	AY960854	CCDS30862.1	1q21.3	2008-02-05	2007-02-02	2006-12-07	ENSG00000203786	ENSG00000203786			31823	protein-coding gene	gene with protein product		613260	"chromosome 1 open reading frame 45"	C1orf45		16297201	Standard	NM_001025231		Approved		uc001fal.1	Q5T749	OTTHUMG00000012402	ENST00000606109.1:c.1357G>T	1.37:g.152733421G>T	ENSP00000475216:p.Gly453Trp					KPRP_ENST00000606109.1_Missense_Mutation_p.G453W	p.G453W	NM_001025231.1	NP_001020402.1	Q5T749	KPRP_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	1415	+	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		453			Pro-rich.			Missense_Mutation	SNP	ENST00000606109.1	37	c.1357G>T	CCDS30862.1	.	.	.	.	.	.	.	.	.	.	G	11.85	1.761916	0.31228	.	.	ENSG00000203786	ENST00000368773	T	0.11930	2.73	4.61	0.393	0.16294	.	2.325760	0.01798	N	0.032704	T	0.03651	0.0104	N	0.22421	0.69	0.09310	N	1	P	0.34757	0.467	B	0.35688	0.208	T	0.35847	-0.9772	10	0.66056	D	0.02	10.7148	6.161	0.20364	0.1715:0.2782:0.5502:0.0	.	453	Q5T749	KPRP_HUMAN	W	453	ENSP00000357762:G453W	ENSP00000357762:G453W	G	+	1	0	KPRP	151000045	0.007000	0.16637	0.000000	0.03702	0.157000	0.22087	1.338000	0.33873	-0.004000	0.14419	0.462000	0.41574	GGG		0.617	KPRP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034522.2	NM_001025231		23	34	1	0	1.10923e-09	1	1.18008e-09	23	34					T	152733421	G	T	152733421	3	4	435	1	0	0	0	0	1	0	0	0	8436	1000	35	5	1359	5	KPRP	1	152733421	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	74036	152733421	96517200	576	21501											
SPRR2D	6703	broad.mit.edu	37	chr1	153012804	153012804	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctggcagggctgcttgcactGctgctgttgataagacatcc	7	11	12	11	0	0	2	0	1	0	1	1	2	1	2	1	2	4	7	1	2	1	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:153012804G>A	ENST00000368757.1	-	2	299	c.19C>T	c.(19-21)Cag>Tag	p.Q7*	SPRR2D_ENST00000368756.1_Nonsense_Mutation_p.Q7*|SPRR2D_ENST00000360379.3_Nonsense_Mutation_p.Q7*|SPRR2D_ENST00000368758.3_Nonsense_Mutation_p.Q7*			P22532	SPR2D_HUMAN	small proline-rich protein 2D	7					epidermis development (GO:0008544)|keratinization (GO:0031424)	cornified envelope (GO:0001533)|cytoplasm (GO:0005737)				endometrium(1)|skin(1)	2	Lung NSC(65;1.49e-28)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			TGCTTGCACTGCTGCTGTTGA	0.557																																						ENST00000368757.1																			0				endometrium(1)|skin(1)	2						c.(19-21)Cag>Tag		small proline-rich protein 2D							27	26	26					1																	153012804		2177	4262	6439	SO:0001587	stop_gained	6703				keratinization	cornified envelope|cytoplasm		g.chr1:153012804G>A	AF333954	CCDS30864.1	1q21-q22	2008-02-05			ENSG00000163216	ENSG00000163216			11264	protein-coding gene	gene with protein product						8325635	Standard	NM_006945		Approved		uc001fbb.2	P22532	OTTHUMG00000014396	ENST00000368757.1:c.19C>T	1.37:g.153012804G>A	ENSP00000357746:p.Gln7*					SPRR2D_ENST00000368756.1_Nonsense_Mutation_p.Q7*|SPRR2D_ENST00000360379.3_Nonsense_Mutation_p.Q7*|SPRR2D_ENST00000368758.3_Nonsense_Mutation_p.Q7*	p.Q7*			P22532	SPR2D_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		2	299	-	Lung NSC(65;1.49e-28)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		7					A4QN03|A8K5K2|D3DV33|Q5T523|Q96RM3	Nonsense_Mutation	SNP	ENST00000368757.1	37	c.19C>T	CCDS30864.1	.	.	.	.	.	.	.	.	.	.	G	37	6.099109	0.97281	.	.	ENSG00000163216	ENST00000360379;ENST00000368758;ENST00000368757;ENST00000368756	.	.	.	3.82	3.82	0.43975	.	0.000000	0.33834	N	0.004505	.	.	.	.	.	.	0.48632	D	0.999683	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	11.5529	0.50731	0.0:0.0:1.0:0.0	.	.	.	.	X	7	.	ENSP00000353542:Q7X	Q	-	1	0	SPRR2D	151279428	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	3.008000	0.49544	1.842000	0.53543	0.455000	0.32223	CAG		0.557	SPRR2D-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040051.1			11	53	0	0	0	1	0	11	53					A	153012804	G	A	153012804	4	1	435	1	0	0	0	0	0	1	0	0	15098	1328	46	3	203	3	SPRR2D	1	153012804	Nonsense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	279383	153012804	96237817	577	21502											
S100A3	6274	broad.mit.edu	37	chr1	153520234	153520234	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gacagaggcaggcaagtgagCgcacatactccacaaagtcc	14	4	11	12	1	0	2	0	1	0	1	2	3	2	2	2	2	2	3	2	2	3	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:153520234C>T	ENST00000368713.3	-	3	426	c.230G>A	c.(229-231)cGc>cAc	p.R77H	S100A4_ENST00000368714.1_Intron|S100A4_ENST00000354332.4_5'Flank|S100A4_ENST00000368715.1_5'Flank|S100A4_ENST00000368716.4_5'Flank|S100A3_ENST00000368712.1_Missense_Mutation_p.R77H|S100A4_ENST00000481009.1_5'Flank	NM_002960.1	NP_002951.1	P33764	S10A3_HUMAN	S100 calcium binding protein A3	77	EF-hand 2.					cytoplasm (GO:0005737)|nucleolus (GO:0005730)	calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)			breast(1)|liver(1)|lung(1)	3	all_lung(78;5.98e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.171)			GGCAAGTGAGCGCACATACTC	0.562																																						ENST00000368713.3																			0				breast(1)|liver(1)|lung(1)	3						c.(229-231)cGc>cAc		S100 calcium binding protein A3							220	187	199					1																	153520234		2203	4300	6503	SO:0001583	missense	6274						calcium ion binding|protein binding	g.chr1:153520234C>T	BC012893	CCDS1043.1	1q21	2008-02-05	2001-11-28		ENSG00000188015	ENSG00000188015		"S100 calcium binding proteins"	10493	protein-coding gene	gene with protein product		176992	"S100 calcium-binding protein A3"	S100E		8341667	Standard	NM_002960		Approved		uc001fca.1	P33764	OTTHUMG00000013550	ENST00000368713.3:c.230G>A	1.37:g.153520234C>T	ENSP00000357702:p.Arg77His					S100A4_ENST00000368714.1_Intron|S100A3_ENST00000368712.1_Missense_Mutation_p.R77H	p.R77H	NM_002960.1	NP_002951.1	P33764	S10A3_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		3	426	-	all_lung(78;5.98e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		77			EF-hand 2.		D3DV51|Q6FGE4	Missense_Mutation	SNP	ENST00000368713.3	37	c.230G>A	CCDS1043.1	.	.	.	.	.	.	.	.	.	.	C	10.82	1.459439	0.26248	.	.	ENSG00000188015	ENST00000368713;ENST00000368712	T;T	0.14391	2.51;2.51	4.85	1.72	0.24424	S100/Calbindin-D9k, conserved site (1);EF-hand-like domain (1);	0.660634	0.14647	N	0.306821	T	0.04634	0.0126	L	0.56769	1.78	0.09310	N	1	B	0.11235	0.004	B	0.04013	0.001	T	0.33624	-0.9861	10	0.62326	D	0.03	.	4.4405	0.11572	0.0:0.6072:0.1865:0.2063	.	77	P33764	S10A3_HUMAN	H	77	ENSP00000357702:R77H;ENSP00000357701:R77H	ENSP00000357701:R77H	R	-	2	0	S100A3	151786858	0.000000	0.05858	0.099000	0.21106	0.520000	0.34377	-0.126000	0.10563	0.559000	0.29153	0.655000	0.94253	CGC		0.562	S100A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000037726.1	NM_002960		29	65	0	0	0	1	0	29	65					T	153520234	C	T	153520234	3	4	435	1	0	0	0	0	1	0	0	0	13779	768	27	1	79	1	S100A3	1	153520234	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	507430	153520234	95730387	578	21503											
S100A16	140576	broad.mit.edu	37	chr1	153580145	153580145	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aggttctggatgagcttatcCgcagccttccggttccctgt	5	13	11	12	2	1	1	0	1	1	0	4	2	4	2	4	3	2	4	4	3	1	4	rs144537408		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:153580145C>T	ENST00000368704.1	-	3	362	c.177G>A	c.(175-177)gcG>gcA	p.A59A	S100A16_ENST00000368705.2_Silent_p.A59A|S100A16_ENST00000368703.2_Silent_p.A59A|S100A16_ENST00000474991.1_5'UTR|S100A16_ENST00000368706.4_Silent_p.A59A			Q96FQ6	S10AG_HUMAN	S100 calcium binding protein A16	59	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.				response to calcium ion (GO:0051592)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			breast(1)|large_intestine(1)|prostate(1)	3	all_lung(78;1.84e-32)|Lung NSC(65;6.67e-31)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.171)			TGAGCTTATCCGCAGCCTTCC	0.592																																					Melanoma(71;1388 1729 37039 46098)	ENST00000368704.1																			0				breast(1)|large_intestine(1)|prostate(1)	3						c.(175-177)gcG>gcA		S100 calcium binding protein A16		C		1,4405	2.1+/-5.4	0,1,2202	83	75	77		177	-8.8	0	1	dbSNP_134	77	0,8600		0,0,4300	no	coding-synonymous	S100A16	NM_080388.1		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		59/104	153580145	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	140576					cytosol|nucleolus	calcium ion binding|protein homodimerization activity	g.chr1:153580145C>T	BC010541	CCDS1045.1	1q21	2014-01-28			ENSG00000188643	ENSG00000188643		"S100 calcium binding proteins", "EF-hand domain containing"	20441	protein-coding gene	gene with protein product						9417904	Standard	NM_080388		Approved	S100F, DT1P1A7, MGC17528	uc001fcd.1	Q96FQ6	OTTHUMG00000013545	ENST00000368704.1:c.177G>A	1.37:g.153580145C>T						S100A16_ENST00000368703.2_Silent_p.A59A|S100A16_ENST00000368706.4_Silent_p.A59A|S100A16_ENST00000474991.1_5'UTR|S100A16_ENST00000368705.2_Silent_p.A59A	p.A59A			Q96FQ6	S10AG_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		3	362	-	all_lung(78;1.84e-32)|Lung NSC(65;6.67e-31)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		59			EF-hand 2.		A8K439|D3DV52|Q5RHS6	Silent	SNP	ENST00000368704.1	37	c.177G>A	CCDS1045.1																																																																																				0.592	S100A16-008	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000037713.1	NM_080388		23	23	0	0	0	1	0	23	23					T	153580145	C	T	153580145	2	4	435	1	0	0	0	0	0	0	0	1	13777	639	23	2		2	S100A16	1	153580145	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	59911	153580145	95670476	579	21504											
ILF2	3608	broad.mit.edu	37	chr1	153635494	153635494	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	agttcatatctgtcccaataCctgctgttctagggtcatga	9	14	8	10	0	4	1	2	1	2	0	5	1	5	1	2	1	2	3	2	1	4	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:153635494C>T	ENST00000361891.4	-	12	1047		c.e12+1		ILF2_ENST00000480213.1_Splice_Site	NM_001267809.1|NM_004515.3	NP_001254738.1|NP_004506.2	Q12905	ILF2_HUMAN	interleukin enhancer binding factor 2						immune response (GO:0006955)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)|transferase activity (GO:0016740)			cervix(1)|kidney(1)|lung(4)|skin(1)	7	all_lung(78;1.84e-32)|Lung NSC(65;6.67e-31)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.171)			TGTCCCAATACCTGCTGTTCT	0.493																																						ENST00000361891.4																			0				cervix(1)|kidney(1)|lung(4)|skin(1)	7						c.e12+1		interleukin enhancer binding factor 2							79	76	77					1																	153635494		2203	4300	6503	SO:0001630	splice_region_variant	3608				immune response|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus|ribonucleoprotein complex	ATP binding|DNA binding|double-stranded RNA binding|protein binding|transferase activity	g.chr1:153635494C>T	U10323	CCDS1050.1, CCDS72919.1	1q21.3	2012-12-04	2012-12-04		ENSG00000143621	ENSG00000143621			6037	protein-coding gene	gene with protein product		603181	"interleukin enhancer binding factor 2, 45kD", "interleukin enhancer binding factor 2, 45kDa"			7519613	Standard	NM_004515		Approved	NF45	uc001fcr.4	Q12905	OTTHUMG00000037087	ENST00000361891.4:c.921+1G>A	1.37:g.153635494C>T						ILF2_ENST00000480213.1_Splice_Site		NM_001267809.1|NM_004515.3	NP_001254738.1|NP_004506.2	Q12905	ILF2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		12	1047	-	all_lung(78;1.84e-32)|Lung NSC(65;6.67e-31)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)							A6NDB0|B2R8G7|Q5SR10|Q5SR11|Q7L7R3|Q9BWD4|Q9P1N0	Splice_Site	SNP	ENST00000361891.4	37		CCDS1050.1	.	.	.	.	.	.	.	.	.	.	C	19.05	3.751527	0.69533	.	.	ENSG00000143621	ENST00000361891	.	.	.	5.15	5.15	0.70609	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.0123	0.64505	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ILF2	151902118	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	6.534000	0.73833	2.687000	0.91594	0.563000	0.77884	.		0.493	ILF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090040.1	NM_004515	Intron	13	21	0	0	0	1	0	13	21					T	153635494	C	T	153635494	5	4	435	1	0	0	0	0	0	0	1	0	7711	521	18	3	262	3	ILF2	1	153635494	Splice_Site	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	55349	153635494	95615127	580	21505											
INTS3	65123	broad.mit.edu	37	chr1	153719758	153719758	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ttccctctttcctttagttgGtgtggttggtacgggaactg	4	17	12	8	1	1	0	0	0	1	0	3	1	3	1	2	4	2	3	2	4	3	7			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:153719758G>A	ENST00000318967.2	+	5	1004	c.436G>A	c.(436-438)Gtg>Atg	p.V146M	INTS3_ENST00000435409.2_Missense_Mutation_p.V146M|INTS3_ENST00000456435.1_5'UTR|RP11-216N14.8_ENST00000453778.1_RNA	NM_023015.3	NP_075391.3	Q68E01	INT3_HUMAN	integrator complex subunit 3	146					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|mitotic cell cycle checkpoint (GO:0007093)|response to ionizing radiation (GO:0010212)|snRNA processing (GO:0016180)	integrator complex (GO:0032039)|nucleus (GO:0005634)|SOSS complex (GO:0070876)				breast(1)|cervix(4)|endometrium(10)|kidney(1)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	38	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			CCTTTAGTTGGTGTGGTTGGT	0.448																																						ENST00000318967.2																			0				breast(1)|cervix(4)|endometrium(10)|kidney(1)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						c.(436-438)Gtg>Atg		integrator complex subunit 3							220	194	203					1																	153719758		2203	4300	6503	SO:0001583	missense	65123				DNA repair|G2/M transition checkpoint|response to ionizing radiation|snRNA processing	integrator complex|SOSS complex	protein binding	g.chr1:153719758G>A	BX640950	CCDS1052.1	1q21.3	2012-03-16	2006-03-15	2006-03-15	ENSG00000143624	ENSG00000143624			26153	protein-coding gene	gene with protein product	"sensor of single-strand DNA complex subunit A"	611347	"chromosome 1 open reading frame 60"	C1orf60		16239144	Standard	NM_023015		Approved	FLJ21919, INT3, SOSS-A	uc001fct.3	Q68E01	OTTHUMG00000037089	ENST00000318967.2:c.436G>A	1.37:g.153719758G>A	ENSP00000318641:p.Val146Met					INTS3_ENST00000456435.1_5'UTR|RP11-216N14.8_ENST00000453778.1_RNA|INTS3_ENST00000435409.2_Missense_Mutation_p.V146M	p.V146M	NM_023015.3	NP_075391.3	Q68E01	INT3_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.151)		5	1004	+	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		146					A8K1W0|B4DQC8|B4E3U9|D3DV57|Q4G0E5|Q5VUQ5|Q5VUQ6|Q5VUR0|Q5VUR1|Q68DJ1|Q69YR5|Q6AI57|Q6DKG7|Q6MZQ4|Q6MZZ9|Q8NC46|Q8TB23|Q9H6S9	Missense_Mutation	SNP	ENST00000318967.2	37	c.436G>A	CCDS1052.1	.	.	.	.	.	.	.	.	.	.	G	18.14	3.557845	0.65425	.	.	ENSG00000143624	ENST00000318967;ENST00000435409	.	.	.	5.06	5.06	0.68205	.	0.000000	0.85682	D	0.000000	T	0.60637	0.2284	L	0.36672	1.1	0.80722	D	1	D	0.64830	0.994	D	0.75484	0.986	T	0.61850	-0.6978	9	0.51188	T	0.08	.	15.9798	0.80097	0.0:0.0:1.0:0.0	.	146	Q68E01-2	.	M	146	.	ENSP00000318641:V146M	V	+	1	0	INTS3	151986382	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.773000	0.75006	2.622000	0.88805	0.561000	0.74099	GTG		0.448	INTS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090045.2	NM_023015		24	15	0	0	0	1	0	24	15					A	153719758	G	A	153719758	3	1	435	1	0	0	0	0	1	0	0	0	7779	1261	44	3	454	3	INTS3	1	153719758	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	84264	153719758	95530863	581	21506											
DENND4B	9909	broad.mit.edu	37	chr1	153914384	153914384	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gggggcctgagacggagtagCggtaaaggaaggtgaggaag	12	4	21	4	2	0	2	0	2	0	1	0	6	0	5	1	7	1	2	1	7	5	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:153914384C>T	ENST00000361217.4	-	6	1434	c.1016G>A	c.(1015-1017)cGc>cAc	p.R339H		NM_014856.2	NP_055671.2	O75064	DEN4B_HUMAN	DENN/MADD domain containing 4B	339	DENN. {ECO:0000255|PROSITE- ProRule:PRU00304}.				positive regulation of Rab GTPase activity (GO:0032851)|regulation of Rab protein signal transduction (GO:0032483)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	36	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			GACGGAGTAGCGGTAAAGGAA	0.657																																						ENST00000361217.4																			0				NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	36						c.(1015-1017)cGc>cAc		DENN/MADD domain containing 4B							44	52	49					1																	153914384		2172	4256	6428	SO:0001583	missense	9909							g.chr1:153914384C>T	AB007945	CCDS44228.1	1q21.3	2012-10-03	2006-01-27	2006-01-27	ENSG00000198837	ENSG00000198837		"DENN/MADD domain containing"	29044	protein-coding gene	gene with protein product			"KIAA0476"	KIAA0476		9455484, 12906859	Standard	NM_014856		Approved		uc001fdd.1	O75064	OTTHUMG00000037157	ENST00000361217.4:c.1016G>A	1.37:g.153914384C>T	ENSP00000354597:p.Arg339His						p.R339H	NM_014856.2	NP_055671.2	O75064	DEN4B_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.151)		6	1434	-	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		339			DENN.		Q5T4K0	Missense_Mutation	SNP	ENST00000361217.4	37	c.1016G>A	CCDS44228.1	.	.	.	.	.	.	.	.	.	.	C	28.3	4.910930	0.92178	.	.	ENSG00000198837	ENST00000361217;ENST00000368646	T;T	0.11930	2.73;2.73	4.39	4.39	0.52855	DENN (3);	0.000000	0.64402	D	0.000001	T	0.28732	0.0712	M	0.71920	2.185	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.05451	-1.0884	10	0.87932	D	0	-18.9778	15.8831	0.79219	0.0:1.0:0.0:0.0	.	339	O75064	DEN4B_HUMAN	H	339;350	ENSP00000354597:R339H;ENSP00000357635:R350H	ENSP00000354597:R339H	R	-	2	0	DENND4B	152181008	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.853000	0.69496	2.292000	0.77174	0.462000	0.41574	CGC		0.657	DENND4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090278.2	XM_375806		12	22	0	0	0	1	0	12	22					T	153914384	C	T	153914384	3	4	435	1	0	0	0	0	1	0	0	0	4434	768	27	1	3566	1	DENND4B	1	153914384	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	194626	153914384	95336237	582	21507											
NUP210L	91181	broad.mit.edu	37	chr1	154042824	154042824	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ataatcttcgaaatgggctaGtgtttcattggaggatttcc	10	15	10	6	1	2	0	1	0	1	0	4	3	3	2	1	3	0	2	1	3	3	6	rs367667136		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:154042824G>A	ENST00000368559.3	-	17	2550	c.2479C>T	c.(2479-2481)Cta>Tta	p.L827L	NUP210L_ENST00000271854.3_Silent_p.L827L	NM_207308.2	NP_997191.2	Q5VU65	P210L_HUMAN	nucleoporin 210kDa-like	827					Sertoli cell development (GO:0060009)|spermatid development (GO:0007286)	integral component of membrane (GO:0016021)				NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)			AAATGGGCTAGTGTTTCATTG	0.393																																						ENST00000368559.3																			0				NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80						c.(2479-2481)Cta>Tta		nucleoporin 210kDa-like							150	137	141					1																	154042824		1901	4113	6014	SO:0001819	synonymous_variant	91181					integral to membrane		g.chr1:154042824G>A	AK125924	CCDS41399.1, CCDS53370.1	1q21.3	2008-02-05			ENSG00000143552	ENSG00000143552			29915	protein-coding gene	gene with protein product							Standard	NM_207308		Approved		uc001fdw.3	Q5VU65	OTTHUMG00000035852	ENST00000368559.3:c.2479C>T	1.37:g.154042824G>A						NUP210L_ENST00000271854.3_Silent_p.L827L	p.L827L	NM_207308.2	NP_997191.2	Q5VU65	P210L_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)		17	2550	-	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		827					E7EP56|Q5T4L7|Q6ZRN1|Q6ZRT4|Q6ZU81|Q8NDI6|Q9UF31	Silent	SNP	ENST00000368559.3	37	c.2479C>T	CCDS41399.1																																																																																				0.393	NUP210L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087270.3	NM_207308		49	68	0	0	0	1	0	49	68					A	154042824	G	A	154042824	2	1	435	1	0	0	0	0	0	0	0	1	10761	1020	36	3		3	NUP210L	1	154042824	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	128440	154042824	95207797	583	21508											
NUP210L	91181	broad.mit.edu	37	chr1	154072581	154072581	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagagatttagctgcgatatGtgtactggaacaatgcattg	13	12	11	5	1	0	1	0	0	0	1	0	4	0	2	0	1	5	3	0	1	6	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:154072581G>A	ENST00000368559.3	-	14	1929	c.1858C>T	c.(1858-1860)Cat>Tat	p.H620Y	NUP210L_ENST00000271854.3_Missense_Mutation_p.H620Y	NM_207308.2	NP_997191.2	Q5VU65	P210L_HUMAN	nucleoporin 210kDa-like	620					Sertoli cell development (GO:0060009)|spermatid development (GO:0007286)	integral component of membrane (GO:0016021)				NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)			GCTGCGATATGTGTACTGGAA	0.448																																						ENST00000368559.3																			0				NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80						c.(1858-1860)Cat>Tat		nucleoporin 210kDa-like							181	168	172					1																	154072581		1934	4153	6087	SO:0001583	missense	91181					integral to membrane		g.chr1:154072581G>A	AK125924	CCDS41399.1, CCDS53370.1	1q21.3	2008-02-05			ENSG00000143552	ENSG00000143552			29915	protein-coding gene	gene with protein product							Standard	NM_207308		Approved		uc001fdw.3	Q5VU65	OTTHUMG00000035852	ENST00000368559.3:c.1858C>T	1.37:g.154072581G>A	ENSP00000357547:p.His620Tyr					NUP210L_ENST00000271854.3_Missense_Mutation_p.H620Y	p.H620Y	NM_207308.2	NP_997191.2	Q5VU65	P210L_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)		14	1929	-	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		620					E7EP56|Q5T4L7|Q6ZRN1|Q6ZRT4|Q6ZU81|Q8NDI6|Q9UF31	Missense_Mutation	SNP	ENST00000368559.3	37	c.1858C>T	CCDS41399.1	.	.	.	.	.	.	.	.	.	.	G	1.037	-0.680043	0.03353	.	.	ENSG00000143552	ENST00000368559;ENST00000271854	T;T	0.06142	3.6;3.34	5.15	2.29	0.28610	.	0.200662	0.35013	N	0.003501	T	0.01800	0.0057	L	0.44542	1.39	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.45702	-0.9243	10	0.33940	T	0.23	-20.0506	8.1234	0.30984	0.3224:0.0:0.6776:0.0	.	620;620	E7EP56;Q5VU65	.;P210L_HUMAN	Y	620	ENSP00000357547:H620Y;ENSP00000271854:H620Y	ENSP00000271854:H620Y	H	-	1	0	NUP210L	152339205	0.288000	0.24324	0.001000	0.08648	0.236000	0.25371	1.401000	0.34589	0.207000	0.20607	-0.448000	0.05591	CAT		0.448	NUP210L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087270.3	NM_207308		46	69	0	0	0	1	0	46	69					A	154072581	G	A	154072581	3	1	435	1	0	0	0	0	1	0	0	0	10761	1377	48	3	3916	3	NUP210L	1	154072581	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	29757	154072581	95178040	584	21509											
NUP210L	91181	broad.mit.edu	37	chr1	154099885	154099885	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatcggtttccaggttggaCagtgaaacctatacacaaat	13	10	8	10	1	0	1	0	1	0	0	2	2	1	2	3	3	2	2	3	3	4	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:154099885C>T	ENST00000368559.3	-	9	1158	c.1087G>A	c.(1087-1089)Gtc>Atc	p.V363I	NUP210L_ENST00000271854.3_Missense_Mutation_p.V363I	NM_207308.2	NP_997191.2	Q5VU65	P210L_HUMAN	nucleoporin 210kDa-like	363					Sertoli cell development (GO:0060009)|spermatid development (GO:0007286)	integral component of membrane (GO:0016021)				NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)			CCAGGTTGGACAGTGAAACCT	0.348																																						ENST00000368559.3																			0				NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80						c.(1087-1089)Gtc>Atc		nucleoporin 210kDa-like							71	65	67					1																	154099885		1821	4082	5903	SO:0001583	missense	91181					integral to membrane		g.chr1:154099885C>T	AK125924	CCDS41399.1, CCDS53370.1	1q21.3	2008-02-05			ENSG00000143552	ENSG00000143552			29915	protein-coding gene	gene with protein product							Standard	NM_207308		Approved		uc001fdw.3	Q5VU65	OTTHUMG00000035852	ENST00000368559.3:c.1087G>A	1.37:g.154099885C>T	ENSP00000357547:p.Val363Ile					NUP210L_ENST00000271854.3_Missense_Mutation_p.V363I	p.V363I	NM_207308.2	NP_997191.2	Q5VU65	P210L_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)		9	1158	-	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		363					E7EP56|Q5T4L7|Q6ZRN1|Q6ZRT4|Q6ZU81|Q8NDI6|Q9UF31	Missense_Mutation	SNP	ENST00000368559.3	37	c.1087G>A	CCDS41399.1	.	.	.	.	.	.	.	.	.	.	C	8.114	0.779432	0.16120	.	.	ENSG00000143552	ENST00000368559;ENST00000271854	T;T	0.05580	3.42;3.42	4.65	0.213	0.15244	.	0.688594	0.12525	N	0.461304	T	0.00754	0.0025	N	0.12182	0.205	0.09310	N	1	B;B	0.11235	0.003;0.004	B;B	0.09377	0.004;0.003	T	0.47222	-0.9134	10	0.02654	T	1	-2.7633	7.9926	0.30250	0.0:0.6524:0.0:0.3476	.	363;363	E7EP56;Q5VU65	.;P210L_HUMAN	I	363	ENSP00000357547:V363I;ENSP00000271854:V363I	ENSP00000271854:V363I	V	-	1	0	NUP210L	152366509	0.094000	0.21725	0.004000	0.12327	0.909000	0.53808	0.084000	0.14891	-0.126000	0.11682	0.313000	0.20887	GTC		0.348	NUP210L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087270.3	NM_207308		14	29	0	0	0	1	0	14	29					T	154099885	C	T	154099885	3	4	435	1	0	0	0	0	1	0	0	0	10761	478	17	3	4707	3	NUP210L	1	154099885	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	27304	154099885	95150736	585	21510											
HAX1	10456	broad.mit.edu	37	chr1	154245979	154245979	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagcccaggaggagggatacGtttccacgataacttcggct	10	8	12	11	3	0	0	0	0	0	0	2	4	1	3	2	4	3	2	2	4	2	4	rs151225652		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:154245979G>A	ENST00000328703.7	+	2	434	c.221G>A	c.(220-222)cGt>cAt	p.R74H	HAX1_ENST00000457918.2_Missense_Mutation_p.R26H|HAX1_ENST00000483970.2_Missense_Mutation_p.R74H|HAX1_ENST00000532105.1_Intron	NM_006118.3	NP_006109.2	O00165	HAX1_HUMAN	HCLS1 associated protein X-1	74					cellular response to cytokine stimulus (GO:0071345)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of actin filament polymerization (GO:0030833)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrion degradation (GO:1903146)|regulation of protein targeting to mitochondrion (GO:1903214)	actin cytoskeleton (GO:0015629)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|lamellipodium (GO:0030027)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|sarcoplasmic reticulum (GO:0016529)|transcription factor complex (GO:0005667)	interleukin-1 binding (GO:0019966)|protein N-terminus binding (GO:0047485)			cervix(1)|endometrium(2)|large_intestine(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	15	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			GGAGGGATACGTTTCCACGAT	0.562									Kostmann syndrome				G|||	1	0.000199681	8e-04	0	5008	,	,		18307	0		0	False		,,,				2504	0					ENST00000328703.7																			0				cervix(1)|endometrium(2)|large_intestine(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	15						c.(220-222)cGt>cAt		HCLS1 associated protein X-1		G	HIS/ARG,HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	96	88	91		77,221	0.5	0.8	1	dbSNP_134	91	0,8600		0,0,4300	no	missense,missense	HAX1	NM_001018837.1,NM_006118.3	29,29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign,benign	26/232,74/280	154245979	1,13005	2203	4300	6503	SO:0001583	missense	10456	Kostmann syndrome	Familial Cancer Database	Kostmann Infantile Agranulocytosis, Severe Congenital Neutropenia, Congenital Agranulocytosis		actin cytoskeleton|cytoplasmic membrane-bounded vesicle|lamellipodium|mitochondrion|nuclear membrane|sarcoplasmic reticulum|soluble fraction	interleukin-1 binding|protein N-terminus binding	g.chr1:154245979G>A	U68566	CCDS1064.1, CCDS44230.1	1q21.3	2014-09-17			ENSG00000143575	ENSG00000143575			16915	protein-coding gene	gene with protein product	"HCLS1 (and PKD2) associated protein"	605998				9058808, 10760273	Standard	NM_006118		Approved	HS1BP1, HCLSBP1	uc001fes.3	O00165	OTTHUMG00000035978	ENST00000328703.7:c.221G>A	1.37:g.154245979G>A	ENSP00000329002:p.Arg74His					HAX1_ENST00000457918.2_Missense_Mutation_p.R26H|HAX1_ENST00000532105.1_Intron|HAX1_ENST00000483970.2_Missense_Mutation_p.R74H	p.R74H	NM_006118.3	NP_006109.2	O00165	HAX1_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.185)		2	434	+	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		74					A8W4W9|A8W4X0|B4DUJ7|Q5VYD5|Q5VYD7|Q96AU4|Q9BS80	Missense_Mutation	SNP	ENST00000328703.7	37	c.221G>A	CCDS1064.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.088437	0.76756	2.27E-4	0.0	ENSG00000143575	ENST00000328703;ENST00000457918;ENST00000483970;ENST00000435087	T;T;T;T	0.46451	0.87;0.87;0.87;0.87	5.58	0.503	0.16940	.	0.305368	0.33457	N	0.004884	T	0.16257	0.0391	L	0.49126	1.545	0.80722	D	1	B;B;B	0.25667	0.131;0.035;0.131	B;B;B	0.22880	0.042;0.007;0.026	T	0.05007	-1.0912	10	0.37606	T	0.19	-0.6272	7.5765	0.27939	0.4374:0.0:0.5626:0.0	.	74;26;74	O00165-2;O00165-5;O00165	.;.;HAX1_HUMAN	H	74;26;74;74	ENSP00000329002:R74H;ENSP00000411448:R26H;ENSP00000435088:R74H;ENSP00000394920:R74H	ENSP00000329002:R74H	R	+	2	0	HAX1	152512603	0.990000	0.36364	0.847000	0.33407	0.974000	0.67602	0.850000	0.27737	0.120000	0.18254	-0.150000	0.13652	CGT		0.562	HAX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087650.1	NM_006118		15	23	0	0	0	1	0	15	23					A	154245979	G	A	154245979	3	1	435	1	0	0	0	0	1	0	0	0	6975	1145	40	1	227	1	HAX1	1	154245979	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	146094	154245979	95004642	586	21511											
ATP8B2	57198	broad.mit.edu	37	chr1	154303924	154303924	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttttcttcttttcagttccGccacaagagcgataaccagg	9	13	8	11	2	3	1	1	0	2	1	4	2	4	1	3	1	2	2	3	1	2	7			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:154303924G>A	ENST00000368489.3	+	6	407	c.407G>A	c.(406-408)cGc>cAc	p.R136H	ATP8B2_ENST00000426445.1_3'UTR|ATP8B2_ENST00000368487.3_Missense_Mutation_p.R103H|ATP8B2_ENST00000341822.2_Missense_Mutation_p.R122H	NM_020452.3	NP_065185.1	P98198	AT8B2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 2	122					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)		IL6R/ATP8B2(2)	breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			TTTCAGTTCCGCCACAAGAGC	0.502																																						ENST00000368489.3																		IL6R/ATP8B2(2)	0				breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	51						c.(406-408)cGc>cAc		ATPase, aminophospholipid transporter, class I, type 8B, member 2							91	91	91					1																	154303924		2203	4300	6503	SO:0001583	missense	57198				ATP biosynthetic process	plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr1:154303924G>A	AB032963	CCDS1066.1, CCDS41405.1	1q21.3	2012-03-09	2012-03-09		ENSG00000143515	ENSG00000143515		"ATPases / P-type"	13534	protein-coding gene	gene with protein product		605867	"ATPase, class I, type 8B, member 2"			10574461, 11015572	Standard	NM_020452		Approved	ATPID, KIAA1137	uc001fex.3	P98198	OTTHUMG00000035979	ENST00000368489.3:c.407G>A	1.37:g.154303924G>A	ENSP00000357475:p.Arg136His					ATP8B2_ENST00000426445.1_3'UTR|ATP8B2_ENST00000341822.2_Missense_Mutation_p.R122H|ATP8B2_ENST00000368487.3_Missense_Mutation_p.R103H	p.R136H	NM_020452.3	NP_065185.1	P98198	AT8B2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.185)		6	407	+	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		122					B4E3P4|Q6NT69|Q7Z486|Q96I43|Q96NQ7	Missense_Mutation	SNP	ENST00000368489.3	37	c.407G>A	CCDS1066.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.364229	0.82463	.	.	ENSG00000143515	ENST00000368487;ENST00000368489;ENST00000341822	D;D;D	0.85702	-2.02;-2.02;-2.02	5.49	5.49	0.81192	ATPase, P-type, ATPase-associated domain (1);ATPase,  P-type, cytoplasmic transduction domain A (1);	0.000000	0.85682	D	0.000000	D	0.96300	0.8793	H	0.99770	4.765	0.80722	D	1	D;D;B	0.89917	1.0;1.0;0.283	D;D;B	0.85130	0.995;0.997;0.153	D	0.98300	1.0518	10	0.87932	D	0	.	18.3569	0.90361	0.0:0.0:1.0:0.0	.	122;136;103	P98198;P98198-3;P98198-4	AT8B2_HUMAN;.;.	H	103;136;122	ENSP00000357472:R103H;ENSP00000357475:R136H;ENSP00000340448:R122H	ENSP00000340448:R122H	R	+	2	0	ATP8B2	152570548	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.813000	0.99286	2.573000	0.86826	0.561000	0.74099	CGC		0.502	ATP8B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087658.2	NM_020452		18	35	0	0	0	1	0	18	35					A	154303924	G	A	154303924	3	1	435	1	0	0	0	0	1	0	0	0	1195	1087	38	1	429	1	ATP8B2	1	154303924	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	57945	154303924	94946697	587	21512											
ATP8B2	57198	broad.mit.edu	37	chr1	154317603	154317603	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgacgcttgccattggagacGgagccaatgatgtcagcatg	10	9	13	9	2	1	3	1	2	0	1	1	5	1	4	2	2	3	2	2	2	1	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:154317603G>A	ENST00000368489.3	+	22	2542	c.2542G>A	c.(2542-2544)Gga>Aga	p.G848R		NM_020452.3	NP_065185.1	P98198	AT8B2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 2	834					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)		IL6R/ATP8B2(2)	breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			CATTGGAGACGGAGCCAATGA	0.572											OREG0013835	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000368489.3																		IL6R/ATP8B2(2)	0				breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	51						c.(2542-2544)Gga>Aga		ATPase, aminophospholipid transporter, class I, type 8B, member 2							147	145	145					1																	154317603		2203	4300	6503	SO:0001583	missense	57198				ATP biosynthetic process	plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr1:154317603G>A	AB032963	CCDS1066.1, CCDS41405.1	1q21.3	2012-03-09	2012-03-09		ENSG00000143515	ENSG00000143515		"ATPases / P-type"	13534	protein-coding gene	gene with protein product		605867	"ATPase, class I, type 8B, member 2"			10574461, 11015572	Standard	NM_020452		Approved	ATPID, KIAA1137	uc001fex.3	P98198	OTTHUMG00000035979	ENST00000368489.3:c.2542G>A	1.37:g.154317603G>A	ENSP00000357475:p.Gly848Arg		OREG0013835	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1762		p.G848R	NM_020452.3	NP_065185.1	P98198	AT8B2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.185)		22	2542	+	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		834					B4E3P4|Q6NT69|Q7Z486|Q96I43|Q96NQ7	Missense_Mutation	SNP	ENST00000368489.3	37	c.2542G>A	CCDS1066.1	.	.	.	.	.	.	.	.	.	.	G	31	5.074978	0.94000	.	.	ENSG00000143515	ENST00000368489	T	0.72615	-0.67	5.26	5.26	0.73747	.	0.000000	0.85682	D	0.000000	D	0.91274	0.7249	H	0.99726	4.73	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.94728	0.7907	10	0.87932	D	0	.	17.6312	0.88108	0.0:0.0:1.0:0.0	.	848	P98198-3	.	R	848	ENSP00000357475:G848R	ENSP00000357475:G848R	G	+	1	0	ATP8B2	152584227	1.000000	0.71417	0.996000	0.52242	0.920000	0.55202	9.657000	0.98554	2.739000	0.93911	0.655000	0.94253	GGA		0.572	ATP8B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087658.2	NM_020452		29	55	0	0	0	1	0	29	55					A	154317603	G	A	154317603	3	1	435	1	0	0	0	0	1	0	0	0	1195	1117	39	2	2758	2	ATP8B2	1	154317603	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	13679	154317603	94933018	588	21513											
TDRD10	126668	broad.mit.edu	37	chr1	154492814	154492814	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttctaaaggacttcaaccCtcttgatgtccacaaaatcc	12	11	4	14	0	3	1	1	1	2	0	5	2	5	2	4	1	1	0	4	1	5	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:154492814C>A	ENST00000368480.3	+	5	261	c.176C>A	c.(175-177)cCt>cAt	p.P59H	TDRD10_ENST00000368482.4_Missense_Mutation_p.P59H			Q5VZ19	TDR10_HUMAN	tudor domain containing 10	59	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.						nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		LUSC - Lung squamous cell carcinoma(543;0.185)			GACTTCAACCCTCTTGATGTC	0.423																																						ENST00000368482.4																			0				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29						c.(175-177)cCt>cAt		tudor domain containing 10							157	151	153					1																	154492814		1928	4143	6071	SO:0001583	missense	126668						nucleotide binding|RNA binding	g.chr1:154492814C>A	AL713777	CCDS30878.2, CCDS41406.1	1q21.3	2013-02-12			ENSG00000163239	ENSG00000163239		"Tudor domain containing", "RNA binding motif (RRM) containing"	25316	protein-coding gene	gene with protein product						12975309	Standard	NM_182499		Approved	DKFZp434M202	uc009wow.3	Q5VZ19	OTTHUMG00000037264	ENST00000368480.3:c.176C>A	1.37:g.154492814C>A	ENSP00000357465:p.Pro59His					TDRD10_ENST00000368480.3_Missense_Mutation_p.P59H	p.P59H	NM_001098475.1|NM_182499.3	NP_001091945.1|NP_872305.3	Q5VZ19	TDR10_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.185)		5	1014	+	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		59			RRM.		A4FU09|B0QZ53|B4DXV4|Q3ZCP1|Q3ZCS7|Q5SXY7|Q6UXV2|Q8TCN3	Missense_Mutation	SNP	ENST00000368480.3	37	c.176C>A	CCDS41406.1	.	.	.	.	.	.	.	.	.	.	c	19.25	3.791789	0.70452	.	.	ENSG00000163239	ENST00000368482;ENST00000368480	T;T	0.75260	-0.92;-0.92	4.0	4.0	0.46444	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	.	.	.	.	T	0.79557	0.4466	M	0.72894	2.215	0.22081	N	0.999371	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.69232	-0.5199	9	0.66056	D	0.02	.	11.7743	0.51977	0.0:1.0:0.0:0.0	.	59;59	Q5VZ19;Q5VZ19-2	TDR10_HUMAN;.	H	59	ENSP00000357467:P59H;ENSP00000357465:P59H	ENSP00000357465:P59H	P	+	2	0	TDRD10	152759438	0.618000	0.27051	0.909000	0.35828	0.462000	0.32619	2.830000	0.48136	2.209000	0.71365	0.558000	0.71614	CCT		0.423	TDRD10-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000090700.2	NM_182499		11	58	1	0	2.68362e-12	1	2.90084e-12	11	58					A	154492814	C	A	154492814	3	1	435	1	0	0	0	0	1	0	0	0	15728	681	24	5	190	5	TDRD10	1	154492814	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	175211	154492814	94757807	589	21514											
CHRNB2	1141	broad.mit.edu	37	chr1	154544124	154544124	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgcatctcagtgctgctggcGctcacggtcttcctgctgct	3	13	11	14	2	3	0	2	0	2	0	5	0	4	0	1	2	5	6	1	2	0	1	rs140739605		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:154544124G>A	ENST00000368476.3	+	5	1089	c.825G>A	c.(823-825)gcG>gcA	p.A275A		NM_000748.2	NP_000739.1	P17787	ACHB2_HUMAN	cholinergic receptor, nicotinic, beta 2 (neuronal)	275					action potential (GO:0001508)|associative learning (GO:0008306)|B cell activation (GO:0042113)|behavioral response to nicotine (GO:0035095)|calcium ion transport (GO:0006816)|cation transmembrane transport (GO:0098655)|central nervous system projection neuron axonogenesis (GO:0021952)|cognition (GO:0050890)|conditioned taste aversion (GO:0001661)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|lateral geniculate nucleus development (GO:0021771)|learning (GO:0007612)|locomotory behavior (GO:0007626)|membrane depolarization (GO:0051899)|memory (GO:0007613)|negative regulation of action potential (GO:0045759)|neurological system process (GO:0050877)|optic nerve morphogenesis (GO:0021631)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of dopamine secretion (GO:0033603)|positive regulation of synaptic transmission, dopaminergic (GO:0032226)|protein heterooligomerization (GO:0051291)|regulation of circadian sleep/wake cycle, non-REM sleep (GO:0045188)|regulation of circadian sleep/wake cycle, REM sleep (GO:0042320)|regulation of dendrite morphogenesis (GO:0048814)|regulation of dopamine metabolic process (GO:0042053)|regulation of dopamine secretion (GO:0014059)|regulation of synapse assembly (GO:0051963)|regulation of synaptic transmission, dopaminergic (GO:0032225)|response to cocaine (GO:0042220)|response to ethanol (GO:0045471)|response to hypoxia (GO:0001666)|response to nicotine (GO:0035094)|sensory perception of pain (GO:0019233)|sensory perception of sound (GO:0007605)|signal transduction (GO:0007165)|smooth muscle contraction (GO:0006939)|social behavior (GO:0035176)|synaptic transmission (GO:0007268)|synaptic transmission involved in micturition (GO:0060084)|synaptic transmission, cholinergic (GO:0007271)|vestibulocochlear nerve development (GO:0021562)|visual learning (GO:0008542)|visual perception (GO:0007601)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|drug binding (GO:0008144)|ligand-gated ion channel activity (GO:0015276)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|skin(1)|urinary_tract(3)	28	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		LUSC - Lung squamous cell carcinoma(543;0.185)		Dextromethorphan(DB00514)|Galantamine(DB00674)|Nicotine(DB00184)	TGCTGCTGGCGCTCACGGTCT	0.577																																						ENST00000368476.3																			0				cervix(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|skin(1)|urinary_tract(3)	28						c.(823-825)gcG>gcA		cholinergic receptor, nicotinic, beta 2 (neuronal)	Nicotine(DB00184)	G		0,4406		0,0,2203	264	197	219		825	-0.8	1	1	dbSNP_134	219	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	CHRNB2	NM_000748.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		275/503	154544124	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	1141				B cell activation|behavioral response to nicotine|calcium ion transport|central nervous system projection neuron axonogenesis|lateral geniculate nucleus development|locomotory behavior|membrane depolarization|memory|negative regulation of action potential|optic nerve morphogenesis|positive regulation of B cell proliferation|positive regulation of dopamine secretion|regulation of circadian sleep/wake cycle, REM sleep|regulation of dendrite morphogenesis|regulation of dopamine metabolic process|regulation of synaptogenesis|response to cocaine|response to ethanol|response to hypoxia|sensory perception of pain|sensory perception of sound|smooth muscle contraction|social behavior|synaptic transmission involved in micturition|synaptic transmission, cholinergic|vestibulocochlear nerve development|visual learning|visual perception	cell junction|external side of plasma membrane|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity	g.chr1:154544124G>A	U62437	CCDS1070.1	1q21.3	2012-02-11	2006-02-01		ENSG00000160716	ENSG00000160716		"Cholinergic receptors", "Ligand-gated ion channels / Acetylcholine receptors, nicotinic"	1962	protein-coding gene	gene with protein product	"acetylcholine receptor, nicotinic, beta 2 (neuronal)"	118507	"cholinergic receptor, nicotinic, beta polypeptide 2 (neuronal)"			1505988	Standard	NM_000748		Approved		uc001ffg.3	P17787	OTTHUMG00000037262	ENST00000368476.3:c.825G>A	1.37:g.154544124G>A							p.A275A	NM_000748.2	NP_000739.1	P17787	ACHB2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.185)		5	1089	+	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		275					Q9UEH9	Silent	SNP	ENST00000368476.3	37	c.825G>A	CCDS1070.1																																																																																				0.577	CHRNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090697.1	NM_000748		35	44	0	0	0	1	0	35	44					A	154544124	G	A	154544124	2	1	435	1	0	0	0	0	0	0	0	1	3391	1074	38	1		1	CHRNB2	1	154544124	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	51310	154544124	94706497	590	21515											
ADAR	103	broad.mit.edu	37	chr1	154557442	154557442	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agagtctcagtagatccctgCggtaacggaaggagcagagc	12	6	14	9	2	1	3	1	0	1	3	3	5	2	5	1	3	4	3	1	3	3	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:154557442C>T	ENST00000368474.4	-	15	3720	c.3521G>A	c.(3520-3522)cGc>cAc	p.R1174H	ADAR_ENST00000368471.3_Missense_Mutation_p.R879H|ADAR_ENST00000292205.5_Missense_Mutation_p.R1217H	NM_001111.4|NM_015840.3|NM_015841.3	NP_001102|NP_056655.2|NP_056656.2	P55265	DSRAD_HUMAN	adenosine deaminase, RNA-specific	1174	A to I editase. {ECO:0000255|PROSITE- ProRule:PRU00240}.				adenosine to inosine editing (GO:0006382)|base conversion or substitution editing (GO:0016553)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|miRNA loading onto RISC involved in gene silencing by miRNA (GO:0035280)|mRNA modification (GO:0016556)|mRNA processing (GO:0006397)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein kinase activity by regulation of protein phosphorylation (GO:0044387)|negative regulation of viral genome replication (GO:0045071)|positive regulation of viral genome replication (GO:0045070)|pre-miRNA processing (GO:0031054)|protein export from nucleus (GO:0006611)|protein import into nucleus (GO:0006606)|response to interferon-alpha (GO:0035455)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|supraspliceosomal complex (GO:0044530)	DNA binding (GO:0003677)|double-stranded RNA adenosine deaminase activity (GO:0003726)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(4)|prostate(2)|skin(2)	51	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.0997)		LUSC - Lung squamous cell carcinoma(543;0.185)	Colorectal(1306;0.115)		TAGATCCCTGCGGTAACGGAA	0.473																																						ENST00000368474.4																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(4)|prostate(2)|skin(2)	51						c.(3520-3522)cGc>cAc		adenosine deaminase, RNA-specific							99	96	97					1																	154557442		2203	4300	6503	SO:0001583	missense	103				adenosine to inosine editing|gene silencing by RNA|mRNA modification|mRNA processing|type I interferon-mediated signaling pathway	cytoplasm|nucleolus|nucleoplasm	DNA binding|double-stranded RNA adenosine deaminase activity|metal ion binding	g.chr1:154557442C>T	BC038227	CCDS1071.1, CCDS30879.1	1q21.3	2012-03-22			ENSG00000160710	ENSG00000160710	3.5.4.-		225	protein-coding gene	gene with protein product		146920	"interferon-induced protein 4"	IFI4, G1P1		7972084	Standard	NM_001111		Approved	ADAR1	uc001ffh.3	P55265	OTTHUMG00000037261	ENST00000368474.4:c.3521G>A	1.37:g.154557442C>T	ENSP00000357459:p.Arg1174His					ADAR_ENST00000292205.5_Missense_Mutation_p.R1217H|ADAR_ENST00000368471.3_Missense_Mutation_p.R879H	p.R1174H	NM_001111.4|NM_015840.3|NM_015841.3	NP_001102.2|NP_056655.2|NP_056656.2	P55265	DSRAD_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.185)	Colorectal(1306;0.115)	15	3720	-	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.0997)		1174			A to I editase.		B1AQQ9|B1AQR0|D3DV76|O15223|O43859|O43860|Q9BYM3|Q9BYM4	Missense_Mutation	SNP	ENST00000368474.4	37	c.3521G>A	CCDS1071.1	.	.	.	.	.	.	.	.	.	.	C	28.3	4.912569	0.92178	.	.	ENSG00000160710	ENST00000292205;ENST00000368474;ENST00000368471;ENST00000529168	D;D;D;D	0.93953	-3.32;-3.32;-3.32;-3.32	4.76	4.76	0.60689	Adenosine deaminase/editase (3);	0.119916	0.56097	D	0.000030	D	0.96027	0.8706	M	0.71581	2.175	0.58432	D	0.999999	P;P;D	0.89917	0.951;0.951;1.0	P;P;D	0.87578	0.596;0.596;0.998	D	0.95915	0.8926	10	0.62326	D	0.03	-20.4579	18.3245	0.90248	0.0:1.0:0.0:0.0	.	1129;1148;1174	P55265-3;P55265-2;P55265	.;.;DSRAD_HUMAN	H	1217;1174;879;1143	ENSP00000292205:R1217H;ENSP00000357459:R1174H;ENSP00000357456:R879H;ENSP00000431794:R1143H	ENSP00000292205:R1217H	R	-	2	0	ADAR	152824066	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.293000	0.65680	2.635000	0.89317	0.655000	0.94253	CGC		0.473	ADAR-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000090691.2	NM_001111		35	70	0	0	0	1	0	35	70					T	154557442	C	T	154557442	3	4	435	1	0	0	0	0	1	0	0	0	281	768	27	1	163	1	ADAR	1	154557442	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	13318	154557442	94693179	591	21516											
PBXIP1	57326	broad.mit.edu	37	chr1	154918557	154918557	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gggccctgtcgcttgccctcCttcttgctccccgactcctc	1	12	8	20	2	1	0	0	0	1	0	6	1	4	0	6	1	2	2	6	1	0	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:154918557C>T	ENST00000368463.3	-	10	1664	c.1593G>A	c.(1591-1593)aaG>aaA	p.K531K	PBXIP1_ENST00000539880.1_Silent_p.K358K|PBXIP1_ENST00000498553.1_5'Flank|PBXIP1_ENST00000368465.1_Silent_p.K502K|PBXIP1_ENST00000542459.1_Silent_p.K376K	NM_020524.2	NP_065385.2	Q96AQ6	PBIP1_HUMAN	pre-B-cell leukemia homeobox interacting protein 1	531					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|negative regulation of transcription, DNA-templated (GO:0045892)	cytosol (GO:0005829)|microtubule (GO:0005874)|nucleus (GO:0005634)	transcription corepressor activity (GO:0003714)			breast(1)|kidney(2)|large_intestine(6)|lung(13)|prostate(1)|urinary_tract(1)	24	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			GCTTGCCCTCCTTCTTGCTCC	0.607																																						ENST00000368463.3																			0				breast(1)|kidney(2)|large_intestine(6)|lung(13)|prostate(1)|urinary_tract(1)	24						c.(1591-1593)aaG>aaA		pre-B-cell leukemia homeobox interacting protein 1							145	149	148					1																	154918557		2203	4300	6503	SO:0001819	synonymous_variant	57326				cell differentiation|multicellular organismal development|negative regulation of transcription, DNA-dependent	cytosol|microtubule|nucleus	protein binding|transcription corepressor activity	g.chr1:154918557C>T	AF221521	CCDS1074.1	1q22	2008-02-05	2007-01-30		ENSG00000163346	ENSG00000163346			21199	protein-coding gene	gene with protein product			"pre-B-cell leukemia transcription factor interacting protein 1"			7505766, 10825160	Standard	NM_020524		Approved	HPIP	uc001ffr.3	Q96AQ6	OTTHUMG00000037369	ENST00000368463.3:c.1593G>A	1.37:g.154918557C>T						PBXIP1_ENST00000539880.1_Silent_p.K358K|PBXIP1_ENST00000368465.1_Silent_p.K502K|PBXIP1_ENST00000542459.1_Silent_p.K376K	p.K531K	NM_020524.2	NP_065385.2	Q96AQ6	PBIP1_HUMAN	BRCA - Breast invasive adenocarcinoma(34;0.00034)		10	1664	-	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245)		531					Q5T174|Q5T176|Q9H8X6|Q9HA02|Q9HD85	Silent	SNP	ENST00000368463.3	37	c.1593G>A	CCDS1074.1																																																																																				0.607	PBXIP1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090943.1	NM_020524		5	140	0	0	0	1	0	5	140					T	154918557	C	T	154918557	2	4	435	1	0	0	0	0	0	0	0	1	11496	680	24	3		3	PBXIP1	1	154918557	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	361115	154918557	94332064	592	21517											
ZBTB7B	51043	broad.mit.edu	37	chr1	154987273	154987273	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gacgcagggccttgaataccGcacccacagggctgtgctag	9	6	13	13	2	0	1	0	1	0	0	0	2	0	1	3	2	2	4	3	2	3	3	rs140676784		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:154987273G>A	ENST00000368426.3	+	3	274	c.137G>A	c.(136-138)cGc>cAc	p.R46H	ZBTB7B_ENST00000487542.1_3'UTR|ZBTB7B_ENST00000535420.1_Missense_Mutation_p.R46H|ZBTB7B_ENST00000417934.2_Missense_Mutation_p.R80H|ZBTB7B_ENST00000292176.2_Missense_Mutation_p.R46H	NM_001256455.1	NP_001243384.1	O15156	ZBT7B_HUMAN	zinc finger and BTB domain containing 7B	46	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				cell differentiation (GO:0030154)|ectoderm development (GO:0007398)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)	29	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			CTTGAATACCGCACCCACAGG	0.632																																						ENST00000368426.3																			0				endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)	29						c.(136-138)cGc>cAc		zinc finger and BTB domain containing 7B		G	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	64	67	66		137	3.6	1	1	dbSNP_134	66	1,8599	1.2+/-3.3	0,1,4299	no	missense	ZBTB7B	NM_015872.2	29	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	probably-damaging	46/540	154987273	2,13004	2203	4300	6503	SO:0001583	missense	51043				cell differentiation|ectoderm development|multicellular organismal development|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding	g.chr1:154987273G>A	AF007833	CCDS1081.1, CCDS58030.1	1q21.2	2013-01-08		2005-04-07	ENSG00000160685	ENSG00000160685		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	18668	protein-coding gene	gene with protein product	"zinc finger and BTB domain containing 15"	607646	"zinc finger protein 67 homolog (mouse)"	ZFP67		9370309, 7937772	Standard	NR_045515		Approved	ZBTB15, c-Krox, hcKrox, ZNF857B	uc010peq.3	O15156	OTTHUMG00000037414	ENST00000368426.3:c.137G>A	1.37:g.154987273G>A	ENSP00000357411:p.Arg46His					ZBTB7B_ENST00000535420.1_Missense_Mutation_p.R46H|ZBTB7B_ENST00000487542.1_3'UTR|ZBTB7B_ENST00000292176.2_Missense_Mutation_p.R46H|ZBTB7B_ENST00000417934.2_Missense_Mutation_p.R80H	p.R46H	NM_001256455.1	NP_001243384.1	O15156	ZBT7B_HUMAN	BRCA - Breast invasive adenocarcinoma(34;0.00034)		3	274	+	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		46			BTB.		B4E3K5|D3DV83|J3KQQ3|Q68DR2|Q96EP2	Missense_Mutation	SNP	ENST00000368426.3	37	c.137G>A	CCDS1081.1	.	.	.	.	.	.	.	.	.	.	G	16.31	3.087158	0.55968	2.27E-4	1.16E-4	ENSG00000160685	ENST00000535420;ENST00000368426;ENST00000417934;ENST00000292176	T;T;T;T	0.67345	-0.26;-0.26;-0.26;-0.26	3.59	3.59	0.41128	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.185924	0.36303	N	0.002676	T	0.61887	0.2383	L	0.43923	1.385	0.35910	D	0.831028	D;D;D	0.71674	0.998;0.998;0.998	P;P;P	0.61275	0.886;0.837;0.886	T	0.61618	-0.7026	10	0.31617	T	0.26	.	12.7145	0.57107	0.0:0.0:1.0:0.0	.	46;46;80	A8K6F4;O15156;B4E3K5	.;ZBT7B_HUMAN;.	H	46;46;80;46	ENSP00000438647:R46H;ENSP00000357411:R46H;ENSP00000406286:R80H;ENSP00000292176:R46H	ENSP00000292176:R46H	R	+	2	0	ZBTB7B	153253897	0.644000	0.27277	1.000000	0.80357	0.963000	0.63663	0.671000	0.25172	1.827000	0.53221	0.462000	0.41574	CGC		0.632	ZBTB7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091083.1	NM_015872		22	40	0	0	0	1	0	22	40					A	154987273	G	A	154987273	3	1	435	1	0	0	0	0	1	0	0	0	17551	1087	38	1	139	1	ZBTB7B	1	154987273	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	68716	154987273	94263348	593	21518											
DCST2	127579	broad.mit.edu	37	chr1	154991112	154991112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtgggggctcctttagtggCggaggatgtctcaggtggtc	5	11	18	7	1	1	0	1	0	1	0	4	2	2	2	1	7	0	1	1	7	1	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:154991112C>T	ENST00000368424.3	-	15	2288	c.2230G>A	c.(2230-2232)Gcc>Acc	p.A744T		NM_144622.2	NP_653223.2	Q5T1A1	DCST2_HUMAN	DC-STAMP domain containing 2	744	Pro-rich.					integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|prostate(1)|skin(1)	38	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			CCTTTAGTGGCGGAGGATGTC	0.587																																						ENST00000368424.3																			0				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|prostate(1)|skin(1)	38						c.(2230-2232)Gcc>Acc		DC-STAMP domain containing 2							75	91	86					1																	154991112		2038	4212	6250	SO:0001583	missense	127579					integral to membrane		g.chr1:154991112C>T	AK057496	CCDS1082.2	1q22	2008-02-05		2005-08-09	ENSG00000163354	ENSG00000163354			26562	protein-coding gene	gene with protein product							Standard	NM_144622		Approved	FLJ32934	uc001fgm.3	Q5T1A1	OTTHUMG00000037371	ENST00000368424.3:c.2230G>A	1.37:g.154991112C>T	ENSP00000357409:p.Ala744Thr						p.A744T	NM_144622.2	NP_653223.2	Q5T1A1	DCST2_HUMAN	BRCA - Breast invasive adenocarcinoma(34;0.00034)		15	2288	-	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		744			Pro-rich.		Q2M2R2|Q8N810|Q96M03	Missense_Mutation	SNP	ENST00000368424.3	37	c.2230G>A	CCDS1082.2	.	.	.	.	.	.	.	.	.	.	C	9.437	1.087002	0.20390	.	.	ENSG00000163354	ENST00000368424	T	0.23950	1.88	2.1	1.12	0.20585	.	.	.	.	.	T	0.02807	0.0084	N	0.08118	0	0.09310	N	1	P	0.37083	0.581	B	0.15052	0.012	T	0.32955	-0.9887	9	0.59425	D	0.04	.	5.0304	0.14407	0.0:0.8132:0.0:0.1868	.	744	Q5T1A1	DCST2_HUMAN	T	744	ENSP00000357409:A744T	ENSP00000357409:A744T	A	-	1	0	DCST2	153257736	0.000000	0.05858	0.023000	0.16930	0.126000	0.20510	-0.620000	0.05565	0.393000	0.25203	0.462000	0.41574	GCC		0.587	DCST2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090953.3	NM_144622		15	26	0	0	0	1	0	15	26					T	154991112	C	T	154991112	3	4	435	1	0	0	0	0	1	0	0	0	4303	768	27	1	95	1	DCST2	1	154991112	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	3839	154991112	94259509	594	21519											
DCST2	127579	broad.mit.edu	37	chr1	155005967	155005967	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tcggacctggcgagagaatcCcatgcccaggctaaggaagg	11	5	14	11	2	0	1	0	0	0	1	2	5	1	3	3	5	1	1	3	5	3	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:155005967C>T	ENST00000368424.3	-	1	269	c.211G>A	c.(211-213)Gga>Aga	p.G71R	DCST1_ENST00000392480.1_5'Flank|DCST1_ENST00000368419.2_5'Flank|DCST1_ENST00000295542.1_5'Flank|DCST2_ENST00000295536.5_Missense_Mutation_p.G71R|DCST1_ENST00000423025.2_5'Flank	NM_144622.2	NP_653223.2	Q5T1A1	DCST2_HUMAN	DC-STAMP domain containing 2	71						integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|prostate(1)|skin(1)	38	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			CGAGAGAATCCCATGCCCAGG	0.662																																						ENST00000368424.3																			0				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|prostate(1)|skin(1)	38						c.(211-213)Gga>Aga		DC-STAMP domain containing 2							57	54	55					1																	155005967		2203	4300	6503	SO:0001583	missense	127579					integral to membrane		g.chr1:155005967C>T	AK057496	CCDS1082.2	1q22	2008-02-05		2005-08-09	ENSG00000163354	ENSG00000163354			26562	protein-coding gene	gene with protein product							Standard	NM_144622		Approved	FLJ32934	uc001fgm.3	Q5T1A1	OTTHUMG00000037371	ENST00000368424.3:c.211G>A	1.37:g.155005967C>T	ENSP00000357409:p.Gly71Arg					DCST2_ENST00000295536.5_Missense_Mutation_p.G71R	p.G71R	NM_144622.2	NP_653223.2	Q5T1A1	DCST2_HUMAN	BRCA - Breast invasive adenocarcinoma(34;0.00034)		1	269	-	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		71					Q2M2R2|Q8N810|Q96M03	Missense_Mutation	SNP	ENST00000368424.3	37	c.211G>A	CCDS1082.2	.	.	.	.	.	.	.	.	.	.	C	25.3	4.627920	0.87560	.	.	ENSG00000163354	ENST00000368424;ENST00000295536	T;T	0.25250	1.81;1.86	5.59	5.59	0.84812	.	0.409565	0.19556	N	0.111450	T	0.33294	0.0858	L	0.60455	1.87	0.33506	D	0.590519	D	0.58268	0.982	P	0.58172	0.834	T	0.09164	-1.0687	10	0.52906	T	0.07	-5.1469	16.4949	0.84237	0.0:1.0:0.0:0.0	.	71	Q5T1A1	DCST2_HUMAN	R	71	ENSP00000357409:G71R;ENSP00000295536:G71R	ENSP00000295536:G71R	G	-	1	0	DCST2	153272591	0.998000	0.40836	0.962000	0.40283	0.941000	0.58515	4.900000	0.63252	2.634000	0.89283	0.561000	0.74099	GGA		0.662	DCST2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090953.3	NM_144622		15	34	0	0	0	1	0	15	34					T	155005967	C	T	155005967	3	4	435	1	0	0	0	0	1	0	0	0	4303	632	22	3	2170	3	DCST2	1	155005967	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	14855	155005967	94244654	595	21520											
DCST1	149095	broad.mit.edu	37	chr1	155014322	155014322	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gaagttcaagttcttctgtgGcattgccaagggtctgcaca	9	12	11	9	0	4	0	1	0	3	0	4	1	4	0	1	2	2	4	1	2	3	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:155014322G>A	ENST00000295542.1	+	8	977	c.881G>A	c.(880-882)gGc>gAc	p.G294D	DCST1_ENST00000392480.1_Missense_Mutation_p.G294D|DCST1_ENST00000368419.2_Missense_Mutation_p.G294D|DCST1_ENST00000423025.2_Missense_Mutation_p.G269D	NM_152494.3	NP_689707.2	Q5T197	DCST1_HUMAN	DC-STAMP domain containing 1	294						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	27	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.000434)			TTCTTCTGTGGCATTGCCAAG	0.562																																						ENST00000295542.1																			0				breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	27						c.(880-882)gGc>gAc		DC-STAMP domain containing 1							96	73	81					1																	155014322		2203	4300	6503	SO:0001583	missense	149095					integral to membrane	zinc ion binding	g.chr1:155014322G>A	AK057347	CCDS1083.1, CCDS44235.1	1q22	2008-02-05			ENSG00000163357	ENSG00000163357			26539	protein-coding gene	gene with protein product							Standard	NM_152494		Approved	FLJ32785	uc001fgn.2	Q5T197	OTTHUMG00000041314	ENST00000295542.1:c.881G>A	1.37:g.155014322G>A	ENSP00000295542:p.Gly294Asp					DCST1_ENST00000423025.2_Missense_Mutation_p.G269D|DCST1_ENST00000392480.1_Missense_Mutation_p.G294D|DCST1_ENST00000368419.2_Missense_Mutation_p.G294D	p.G294D	NM_152494.3	NP_689707.2	Q5T197	DCST1_HUMAN	BRCA - Breast invasive adenocarcinoma(34;0.000434)		8	977	+	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		294					B4DXA0|E9PHV3|Q5T198|Q6P1W6|Q71S70|Q96M70	Missense_Mutation	SNP	ENST00000295542.1	37	c.881G>A	CCDS1083.1	.	.	.	.	.	.	.	.	.	.	G	6.384	0.439040	0.12104	.	.	ENSG00000163357	ENST00000295542;ENST00000392480;ENST00000423025;ENST00000368419	T;T;T;T	0.59083	0.29;0.29;0.29;0.29	4.88	-1.6	0.08426	.	0.842297	0.10564	N	0.659984	T	0.13286	0.0322	N	0.14661	0.345	0.09310	N	0.999998	B;B;B	0.19706	0.008;0.038;0.008	B;B;B	0.09377	0.002;0.004;0.002	T	0.35871	-0.9771	10	0.10111	T	0.7	-3.3686	9.9772	0.41791	0.6205:0.0:0.3795:0.0	.	269;319;294	E9PHV3;E9PJX3;Q5T197	.;.;DCST1_HUMAN	D	294;294;269;294	ENSP00000295542:G294D;ENSP00000376271:G294D;ENSP00000387369:G269D;ENSP00000357404:G294D	ENSP00000295542:G294D	G	+	2	0	DCST1	153280946	0.039000	0.19947	0.025000	0.17156	0.918000	0.54935	0.185000	0.16958	-0.200000	0.10300	-0.253000	0.11424	GGC		0.562	DCST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000099006.1	NM_152494		29	32	0	0	0	1	0	29	32					A	155014322	G	A	155014322	3	1	435	1	0	0	0	0	1	0	0	0	4302	1203	42	3	907	3	DCST1	1	155014322	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	8355	155014322	94236299	596	21521											
ADAM15	8751	broad.mit.edu	37	chr1	155026631	155026631	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gttcccatgctgcaggagaaCtgctgctaccagggaagagt	10	8	13	10	0	0	2	0	0	0	2	1	4	1	3	2	2	6	5	2	2	3	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:155026631C>A	ENST00000356955.2	+	5	449	c.348C>A	c.(346-348)aaC>aaA	p.N116K	ADAM15_ENST00000368413.1_Intron|ADAM15_ENST00000447332.3_Missense_Mutation_p.N100K|ADAM15_ENST00000368412.3_Missense_Mutation_p.N116K|ADAM15_ENST00000355956.2_Missense_Mutation_p.N116K|ADAM15_ENST00000472434.1_3'UTR|ADAM15_ENST00000449910.2_Missense_Mutation_p.N116K|ADAM15_ENST00000271836.6_Missense_Mutation_p.N116K|ADAM15_ENST00000368410.2_Intron|ADAM15_ENST00000531455.1_Missense_Mutation_p.N126K|ADAM15_ENST00000360674.4_Missense_Mutation_p.N116K|ADAM15_ENST00000359280.4_Missense_Mutation_p.N116K	NM_207197.2	NP_997080.1	Q13444	ADA15_HUMAN	ADAM metallopeptidase domain 15	116					angiogenesis (GO:0001525)|cardiac epithelial to mesenchymal transition (GO:0060317)|cell-matrix adhesion (GO:0007160)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of receptor binding (GO:1900121)|protein kinase C signaling (GO:0070528)|tissue regeneration (GO:0042246)	cell junction (GO:0030054)|cell projection (GO:0042995)|cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|SH3 domain binding (GO:0017124)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(5)|urinary_tract(1)	39	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.000434)			TGCAGGAGAACTGCTGCTACC	0.532																																						ENST00000356955.2																			0				NS(1)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(5)|urinary_tract(1)	39						c.(346-348)aaC>aaA		ADAM metallopeptidase domain 15							102	96	98					1																	155026631		2203	4300	6503	SO:0001583	missense	8751				angiogenesis|cell-matrix adhesion|collagen catabolic process|proteolysis	acrosomal vesicle|adherens junction|endomembrane system|flagellum|integral to membrane	metalloendopeptidase activity|SH3 domain binding|zinc ion binding	g.chr1:155026631C>A	U46005	CCDS1084.1, CCDS1085.1, CCDS1086.1, CCDS1087.1, CCDS1088.1, CCDS44236.1, CCDS58031.1, CCDS58032.1, CCDS60282.1	1q21.3	2008-02-05	2007-06-04		ENSG00000143537	ENSG00000143537		"ADAM metallopeptidase domain containing"	193	protein-coding gene	gene with protein product	"metargidin"	605548	"a disintegrin and metalloproteinase domain 15 (metargidin)"			9516430	Standard	NM_003815		Approved	MDC15	uc001fgr.2	Q13444	OTTHUMG00000013898	ENST00000356955.2:c.348C>A	1.37:g.155026631C>A	ENSP00000349436:p.Asn116Lys					ADAM15_ENST00000368410.2_Intron|ADAM15_ENST00000271836.6_Missense_Mutation_p.N116K|ADAM15_ENST00000368413.1_Intron|ADAM15_ENST00000472434.1_3'UTR|ADAM15_ENST00000531455.1_Missense_Mutation_p.N126K|ADAM15_ENST00000368412.3_Missense_Mutation_p.N116K|ADAM15_ENST00000360674.4_Missense_Mutation_p.N116K|ADAM15_ENST00000355956.2_Missense_Mutation_p.N116K|ADAM15_ENST00000359280.4_Missense_Mutation_p.N116K|ADAM15_ENST00000447332.3_Missense_Mutation_p.N100K|ADAM15_ENST00000449910.2_Missense_Mutation_p.N116K	p.N116K	NM_207197.2	NP_997080.1	Q13444	ADA15_HUMAN	BRCA - Breast invasive adenocarcinoma(34;0.000434)		5	449	+	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		116					B3KQU5|B4DLB5|B4DMH8|E9PN65|Q13493|Q53XQ0|Q5SR68|Q5SR69|Q6R267|Q71S61|Q71S62|Q71S63|Q71S64|Q71S65|Q71S66|Q71S67|Q71S68|Q71S69|Q96C78|U3KQL5	Missense_Mutation	SNP	ENST00000356955.2	37	c.348C>A	CCDS1087.1	.	.	.	.	.	.	.	.	.	.	C	18.17	3.563910	0.65651	.	.	ENSG00000143537	ENST00000356955;ENST00000449910;ENST00000359280;ENST00000360674;ENST00000368412;ENST00000355956;ENST00000271836;ENST00000531455	T;T;T;T;T;T;T;T	0.05996	3.36;3.36;3.36;3.36;3.36;3.36;3.36;3.36	4.94	1.84	0.25277	Peptidase M12B, propeptide (1);	0.421556	0.19950	N	0.102451	T	0.08980	0.0222	M	0.77486	2.375	0.80722	D	1	P;P;P;P;P;P;P;P;P;P	0.50156	0.932;0.932;0.866;0.855;0.734;0.917;0.917;0.917;0.734;0.88	P;P;P;P;P;P;P;P;P;P	0.57009	0.811;0.811;0.755;0.713;0.562;0.713;0.713;0.713;0.457;0.811	T	0.03121	-1.1070	10	0.72032	D	0.01	.	5.8859	0.18882	0.0:0.6625:0.0:0.3375	.	126;133;100;116;116;116;116;116;116;116	E9PN65;B7Z390;B4DMH8;Q13444-10;Q13444-2;Q13444-4;Q13444-5;Q13444-3;Q13444-9;Q13444	.;.;.;.;.;.;.;.;.;ADA15_HUMAN	K	116;116;116;116;116;116;116;126	ENSP00000349436:N116K;ENSP00000403843:N116K;ENSP00000352226:N116K;ENSP00000353892:N116K;ENSP00000357397:N116K;ENSP00000348227:N116K;ENSP00000271836:N116K;ENSP00000432927:N126K	ENSP00000271836:N116K	N	+	3	2	ADAM15	153293255	1.000000	0.71417	0.979000	0.43373	0.692000	0.40212	0.782000	0.26788	0.687000	0.31509	-0.291000	0.09656	AAC		0.532	ADAM15-019	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000387168.1	NM_003815		21	43	1	0	3.5997e-14	1	3.92294e-14	21	43					A	155026631	C	A	155026631	3	1	435	1	0	0	0	0	1	0	0	0	237	564	20	5	366	5	ADAM15	1	155026631	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	12309	155026631	94223990	597	21522											
ADAM15	8751	broad.mit.edu	37	chr1	155026819	155026819	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggtcctgaccccagagagaaGctataccctggagcaggggc	10	5	14	12	0	0	3	0	1	0	2	1	5	1	4	4	4	3	2	4	4	3	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:155026819G>A	ENST00000356955.2	+	6	550	c.449G>A	c.(448-450)aGc>aAc	p.S150N	ADAM15_ENST00000368413.1_Intron|ADAM15_ENST00000447332.3_Missense_Mutation_p.S134N|ADAM15_ENST00000368412.3_Missense_Mutation_p.S150N|ADAM15_ENST00000355956.2_Missense_Mutation_p.S150N|ADAM15_ENST00000472434.1_3'UTR|ADAM15_ENST00000449910.2_Missense_Mutation_p.S150N|ADAM15_ENST00000271836.6_Missense_Mutation_p.S150N|ADAM15_ENST00000368410.2_Intron|ADAM15_ENST00000531455.1_Missense_Mutation_p.S160N|ADAM15_ENST00000360674.4_Missense_Mutation_p.S150N|ADAM15_ENST00000359280.4_Missense_Mutation_p.S150N	NM_207197.2	NP_997080.1	Q13444	ADA15_HUMAN	ADAM metallopeptidase domain 15	150					angiogenesis (GO:0001525)|cardiac epithelial to mesenchymal transition (GO:0060317)|cell-matrix adhesion (GO:0007160)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of receptor binding (GO:1900121)|protein kinase C signaling (GO:0070528)|tissue regeneration (GO:0042246)	cell junction (GO:0030054)|cell projection (GO:0042995)|cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|SH3 domain binding (GO:0017124)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(5)|urinary_tract(1)	39	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.000434)			CCAGAGAGAAGCTATACCCTG	0.532																																						ENST00000356955.2																			0				NS(1)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(5)|urinary_tract(1)	39						c.(448-450)aGc>aAc		ADAM metallopeptidase domain 15							52	60	57					1																	155026819		2203	4300	6503	SO:0001583	missense	8751				angiogenesis|cell-matrix adhesion|collagen catabolic process|proteolysis	acrosomal vesicle|adherens junction|endomembrane system|flagellum|integral to membrane	metalloendopeptidase activity|SH3 domain binding|zinc ion binding	g.chr1:155026819G>A	U46005	CCDS1084.1, CCDS1085.1, CCDS1086.1, CCDS1087.1, CCDS1088.1, CCDS44236.1, CCDS58031.1, CCDS58032.1, CCDS60282.1	1q21.3	2008-02-05	2007-06-04		ENSG00000143537	ENSG00000143537		"ADAM metallopeptidase domain containing"	193	protein-coding gene	gene with protein product	"metargidin"	605548	"a disintegrin and metalloproteinase domain 15 (metargidin)"			9516430	Standard	NM_003815		Approved	MDC15	uc001fgr.2	Q13444	OTTHUMG00000013898	ENST00000356955.2:c.449G>A	1.37:g.155026819G>A	ENSP00000349436:p.Ser150Asn					ADAM15_ENST00000368410.2_Intron|ADAM15_ENST00000271836.6_Missense_Mutation_p.S150N|ADAM15_ENST00000368413.1_Intron|ADAM15_ENST00000472434.1_3'UTR|ADAM15_ENST00000531455.1_Missense_Mutation_p.S160N|ADAM15_ENST00000368412.3_Missense_Mutation_p.S150N|ADAM15_ENST00000360674.4_Missense_Mutation_p.S150N|ADAM15_ENST00000355956.2_Missense_Mutation_p.S150N|ADAM15_ENST00000359280.4_Missense_Mutation_p.S150N|ADAM15_ENST00000447332.3_Missense_Mutation_p.S134N|ADAM15_ENST00000449910.2_Missense_Mutation_p.S150N	p.S150N	NM_207197.2	NP_997080.1	Q13444	ADA15_HUMAN	BRCA - Breast invasive adenocarcinoma(34;0.000434)		6	550	+	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		150					B3KQU5|B4DLB5|B4DMH8|E9PN65|Q13493|Q53XQ0|Q5SR68|Q5SR69|Q6R267|Q71S61|Q71S62|Q71S63|Q71S64|Q71S65|Q71S66|Q71S67|Q71S68|Q71S69|Q96C78|U3KQL5	Missense_Mutation	SNP	ENST00000356955.2	37	c.449G>A	CCDS1087.1	.	.	.	.	.	.	.	.	.	.	G	17.96	3.516279	0.64634	.	.	ENSG00000143537	ENST00000356955;ENST00000449910;ENST00000359280;ENST00000360674;ENST00000368412;ENST00000355956;ENST00000271836;ENST00000531455	T;T;T;T;T;T;T;T	0.08193	3.12;3.12;3.12;3.12;3.12;3.12;3.12;3.12	5.09	4.11	0.48088	Peptidase M12B, propeptide (1);	0.402267	0.21438	N	0.074540	T	0.17450	0.0419	M	0.82630	2.6	0.80722	D	1	D;D;P;P;P;P;P;P;P;P	0.53151	0.958;0.958;0.866;0.734;0.734;0.948;0.837;0.837;0.913;0.775	P;P;P;P;P;P;P;P;P;P	0.60473	0.875;0.875;0.735;0.71;0.637;0.802;0.617;0.617;0.864;0.809	T	0.00086	-1.2096	10	0.62326	D	0.03	.	9.8517	0.41061	0.0:0.0:0.7815:0.2185	.	160;167;134;150;150;150;150;150;150;150	E9PN65;B7Z390;B4DMH8;Q13444-10;Q13444-2;Q13444-4;Q13444-5;Q13444-3;Q13444-9;Q13444	.;.;.;.;.;.;.;.;.;ADA15_HUMAN	N	150;150;150;150;150;150;150;160	ENSP00000349436:S150N;ENSP00000403843:S150N;ENSP00000352226:S150N;ENSP00000353892:S150N;ENSP00000357397:S150N;ENSP00000348227:S150N;ENSP00000271836:S150N;ENSP00000432927:S160N	ENSP00000271836:S150N	S	+	2	0	ADAM15	153293443	1.000000	0.71417	1.000000	0.80357	0.547000	0.35210	3.320000	0.51991	2.651000	0.90000	0.561000	0.74099	AGC		0.532	ADAM15-019	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000387168.1	NM_003815		19	52	0	0	0	1	0	19	52					A	155026819	G	A	155026819	3	1	435	1	0	0	0	0	1	0	0	0	237	971	34	3	471	3	ADAM15	1	155026819	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	188	155026819	94223802	598	21523											
TRIM46	80128	broad.mit.edu	37	chr1	155156326	155156326	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgaggatgccacagtggaggCgtcgccacccttcgctttcc	6	8	12	15	4	0	0	0	0	0	0	3	3	1	2	4	3	1	1	4	3	0	2	rs568225887		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:155156326C>T	ENST00000334634.4	+	10	1940	c.1940C>T	c.(1939-1941)gCg>gTg	p.A647V	TRIM46_ENST00000368382.1_Missense_Mutation_p.A624V|TRIM46_ENST00000545012.1_Missense_Mutation_p.A521V|TRIM46_ENST00000468878.1_3'UTR|RP11-201K10.3_ENST00000473363.2_Intron|TRIM46_ENST00000392451.2_3'UTR|MUC1_ENST00000462215.1_5'Flank	NM_001256601.1|NM_001282378.1	NP_001243530.1|NP_001269307.1	Q7Z4K8	TRI46_HUMAN	tripartite motif containing 46	647	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.					intracellular (GO:0005622)	zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	29	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;6.62e-10)|all cancers(21;2.68e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			ACAGTGGAGGCGTCGCCACCC	0.637													C|||	1	0.000199681	8e-04	0	5008	,	,		17577	0		0	False		,,,				2504	0					ENST00000368382.1																			0				NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	29						c.(1870-1872)gCg>gTg		tripartite motif containing 46							60	57	58					1																	155156326		2203	4300	6503	SO:0001583	missense	80128					intracellular	zinc ion binding	g.chr1:155156326C>T		CCDS1097.1, CCDS58033.1, CCDS60285.1, CCDS72932.1, CCDS72931.1	1q22	2013-01-09	2011-01-25		ENSG00000163462	ENSG00000163462		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	19019	protein-coding gene	gene with protein product		600986	"tripartite motif-containing 46"				Standard	NM_025058		Approved	FLJ23229, TRIFIC	uc001fhs.2	Q7Z4K8	OTTHUMG00000035680	ENST00000334634.4:c.1940C>T	1.37:g.155156326C>T	ENSP00000334657:p.Ala647Val					TRIM46_ENST00000392451.2_3'UTR|TRIM46_ENST00000334634.4_Missense_Mutation_p.A647V|TRIM46_ENST00000468878.1_3'UTR|TRIM46_ENST00000545012.1_Missense_Mutation_p.A521V	p.A624V	NM_001256599.1|NM_001256600.1|NM_001256601.1|NM_025058.4	NP_001243528.1|NP_001243529.1|NP_001243530.1|NP_079334.3	Q7Z4K8	TRI46_HUMAN	Epithelial(20;6.62e-10)|all cancers(21;2.68e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)		10	2008	+	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		647			B30.2/SPRY.		A0AVI6|B1AVQ4|Q5VT60|Q5VT62|Q6NT17|Q6NT41|Q6ZRL7|Q9H5P2	Missense_Mutation	SNP	ENST00000334634.4	37	c.1871C>T	CCDS1097.1	.	.	.	.	.	.	.	.	.	.	C	11.27	1.588567	0.28357	.	.	ENSG00000163462	ENST00000430513;ENST00000545012;ENST00000368382;ENST00000334634	T;T;T	0.64085	-0.08;0.38;0.44	3.66	3.66	0.41972	Concanavalin A-like lectin/glucanase (1);B30.2/SPRY domain (1);	0.080357	0.51477	D	0.000085	T	0.26231	0.0640	N	0.14661	0.345	0.36974	D	0.893956	B	0.26744	0.158	B	0.20384	0.029	T	0.10405	-1.0631	10	0.26408	T	0.33	.	13.2724	0.60167	0.0:1.0:0.0:0.0	.	647	Q7Z4K8	TRI46_HUMAN	V	605;521;624;647	ENSP00000440254:A521V;ENSP00000357366:A624V;ENSP00000334657:A647V	ENSP00000334657:A647V	A	+	2	0	TRIM46	153422950	1.000000	0.71417	0.996000	0.52242	0.801000	0.45260	5.632000	0.67819	2.065000	0.61736	0.313000	0.20887	GCG		0.637	TRIM46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086728.1	NM_025058		20	38	0	0	0	1	0	20	38					T	155156326	C	T	155156326	3	4	435	1	0	0	0	0	1	0	0	0	16518	768	27	1	1978	1	TRIM46	1	155156326	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	129507	155156326	94094295	599	21524											
TRIM46	80128	broad.mit.edu	37	chr1	155156356	155156356	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cttcgctttcctaaccattgGcatgggcaagatcctgctgg	7	12	10	12	1	0	1	0	0	0	1	3	1	2	1	3	3	2	4	3	3	2	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:155156356G>A	ENST00000334634.4	+	10	1970	c.1970G>A	c.(1969-1971)gGc>gAc	p.G657D	TRIM46_ENST00000368382.1_Missense_Mutation_p.G634D|TRIM46_ENST00000545012.1_Missense_Mutation_p.G531D|TRIM46_ENST00000468878.1_3'UTR|RP11-201K10.3_ENST00000473363.2_Intron|TRIM46_ENST00000392451.2_3'UTR|MUC1_ENST00000462215.1_5'Flank	NM_001256601.1|NM_001282378.1	NP_001243530.1|NP_001269307.1	Q7Z4K8	TRI46_HUMAN	tripartite motif containing 46	657	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.					intracellular (GO:0005622)	zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	29	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;6.62e-10)|all cancers(21;2.68e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			CTAACCATTGGCATGGGCAAG	0.672																																						ENST00000368382.1																			0				NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	29						c.(1900-1902)gGc>gAc		tripartite motif containing 46							60	60	60					1																	155156356		2203	4300	6503	SO:0001583	missense	80128					intracellular	zinc ion binding	g.chr1:155156356G>A		CCDS1097.1, CCDS58033.1, CCDS60285.1, CCDS72932.1, CCDS72931.1	1q22	2013-01-09	2011-01-25		ENSG00000163462	ENSG00000163462		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	19019	protein-coding gene	gene with protein product		600986	"tripartite motif-containing 46"				Standard	NM_025058		Approved	FLJ23229, TRIFIC	uc001fhs.2	Q7Z4K8	OTTHUMG00000035680	ENST00000334634.4:c.1970G>A	1.37:g.155156356G>A	ENSP00000334657:p.Gly657Asp					TRIM46_ENST00000392451.2_3'UTR|TRIM46_ENST00000334634.4_Missense_Mutation_p.G657D|TRIM46_ENST00000468878.1_3'UTR|TRIM46_ENST00000545012.1_Missense_Mutation_p.G531D	p.G634D	NM_001256599.1|NM_001256600.1|NM_001256601.1|NM_025058.4	NP_001243528.1|NP_001243529.1|NP_001243530.1|NP_079334.3	Q7Z4K8	TRI46_HUMAN	Epithelial(20;6.62e-10)|all cancers(21;2.68e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)		10	2038	+	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		657			B30.2/SPRY.		A0AVI6|B1AVQ4|Q5VT60|Q5VT62|Q6NT17|Q6NT41|Q6ZRL7|Q9H5P2	Missense_Mutation	SNP	ENST00000334634.4	37	c.1901G>A	CCDS1097.1	.	.	.	.	.	.	.	.	.	.	G	17.78	3.473053	0.63737	.	.	ENSG00000163462	ENST00000430513;ENST00000545012;ENST00000368382;ENST00000334634	T;T;T	0.65364	-0.15;-0.15;-0.15	3.66	3.66	0.41972	Concanavalin A-like lectin/glucanase (1);B30.2/SPRY domain (1);	0.000000	0.64402	D	0.000001	T	0.66076	0.2753	L	0.54323	1.7	0.50171	D	0.999852	D	0.89917	1.0	D	0.83275	0.996	T	0.65245	-0.6215	10	0.37606	T	0.19	.	13.2723	0.60167	0.0:0.0:1.0:0.0	.	657	Q7Z4K8	TRI46_HUMAN	D	615;531;634;657	ENSP00000440254:G531D;ENSP00000357366:G634D;ENSP00000334657:G657D	ENSP00000334657:G657D	G	+	2	0	TRIM46	153422980	1.000000	0.71417	1.000000	0.80357	0.647000	0.38526	8.994000	0.93529	2.065000	0.61736	0.313000	0.20887	GGC		0.672	TRIM46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086728.1	NM_025058		18	39	0	0	0	1	0	18	39					A	155156356	G	A	155156356	3	1	435	1	0	0	0	0	1	0	0	0	16518	1203	42	3	2008	3	TRIM46	1	155156356	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	30	155156356	94094265	600	21525											
GBA	2629	broad.mit.edu	37	chr1	155206159	155206159	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	atggtgttggggaacaggcgGtgtgtctcccctagggtggc	5	10	18	8	1	1	0	0	0	1	0	2	1	1	1	2	7	1	1	2	7	2	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:155206159G>A	ENST00000327247.5	-	9	1333	c.1101C>T	c.(1099-1101)caC>caT	p.H367H	GBA_ENST00000493842.1_5'Flank|AL713999.1_ENST00000401290.1_RNA|GBA_ENST00000427500.3_Silent_p.H318H|GBA_ENST00000536770.1_Silent_p.H254H|GBA_ENST00000368373.3_Silent_p.H367H|GBA_ENST00000428024.3_Silent_p.H280H	NM_001005741.2|NM_001005742.2	NP_001005741.1|NP_001005742.1	P04062	GLCM_HUMAN	glucosidase, beta, acid	367					carbohydrate metabolic process (GO:0005975)|cell death (GO:0008219)|cellular response to tumor necrosis factor (GO:0071356)|ceramide biosynthetic process (GO:0046513)|glucosylceramide catabolic process (GO:0006680)|glycosphingolipid metabolic process (GO:0006687)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of MAP kinase activity (GO:0043407)|positive regulation of protein dephosphorylation (GO:0035307)|regulation of water loss via skin (GO:0033561)|response to estrogen (GO:0043627)|response to glucocorticoid (GO:0051384)|response to pH (GO:0009268)|response to testosterone (GO:0033574)|response to thyroid hormone (GO:0097066)|skin morphogenesis (GO:0043589)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)|sphingosine biosynthetic process (GO:0046512)|termination of signal transduction (GO:0023021)	extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)|lysosomal membrane (GO:0005765)	glucosylceramidase activity (GO:0004348)|receptor binding (GO:0005102)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	26	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)		Velaglucerase alfa(DB06720)	GGAACAGGCGGTGTGTCTCCC	0.562									Gaucher disease type I																													ENST00000428024.2																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	26						c.(838-840)caC>caT		glucosidase, beta, acid	Alglucerase(DB00088)|Imiglucerase(DB00053)						87	76	79					1																	155206159		2203	4300	6503	SO:0001819	synonymous_variant	2629	Gaucher disease type I	Familial Cancer Database	glucocerebrosidase insufficiency	carbohydrate metabolic process|cell death|cellular response to tumor necrosis factor|ceramide biosynthetic process|glucosylceramide catabolic process|lysosome organization|negative regulation of interleukin-6 production|negative regulation of MAP kinase activity|positive regulation of protein dephosphorylation|sphingosine biosynthetic process|termination of signal transduction	lysosomal lumen|lysosomal membrane	cation binding|glucosylceramidase activity|receptor binding	g.chr1:155206159G>A	M19285	CCDS1102.1, CCDS53373.1, CCDS53374.1	1q22	2010-01-19	2010-01-19		ENSG00000177628	ENSG00000177628	3.2.1.21		4177	protein-coding gene	gene with protein product		606463	"glucosylceramidase", "glucosidase, beta; acid (includes glucosylceramidase)"	GLUC		3359914	Standard	NM_001005742		Approved	GBA1	uc001fjl.3	P04062	OTTHUMG00000035841	ENST00000327247.5:c.1101C>T	1.37:g.155206159G>A						GBA_ENST00000368373.3_Silent_p.H367H|GBA_ENST00000327247.5_Silent_p.H367H|GBA_ENST00000427500.2_Silent_p.H318H|GBA_ENST00000536770.1_Silent_p.H254H	p.H280H	NM_001171811.1	NP_001165282.1	P04062	GLCM_HUMAN	Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)		7	1342	-	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		367					A8K796|B7Z5G2|B7Z6S1|J3KQG4|J3KQK9|Q16545|Q4VX22|Q6I9R6|Q9UMJ8	Silent	SNP	ENST00000327247.5	37	c.840C>T	CCDS1102.1																																																																																				0.562	GBA-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087204.1	NM_000157		5	25	0	0	0	1	0	5	25					A	155206159	G	A	155206159	2	1	435	1	0	0	0	0	0	0	0	1	6266	1252	44	3		3	GBA	1	155206159	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	49803	155206159	94044462	601	21526											
HCN3	57657	broad.mit.edu	37	chr1	155254437	155254437	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gtaggcatgcccgacgtctgGctcaccatgctcagcatgat	8	9	11	13	2	3	1	2	1	1	0	3	2	3	1	2	2	3	5	2	2	1	1	rs199623311		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:155254437G>A	ENST00000368358.3	+	4	986	c.978G>A	c.(976-978)tgG>tgA	p.W326*	HCN3_ENST00000496230.1_3'UTR	NM_020897.2	NP_065948.1	Q9P1Z3	HCN3_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 3	326					potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated sodium channel activity (GO:0005248)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			CCGACGTCTGGCTCACCATGC	0.607																																						ENST00000368358.3																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(976-978)tgG>tgA		hyperpolarization activated cyclic nucleotide-gated potassium channel 3							113	82	92					1																	155254437		2203	4300	6503	SO:0001587	stop_gained	57657					integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity	g.chr1:155254437G>A	AB040968	CCDS1108.1	1q21.2	2011-07-05			ENSG00000143630	ENSG00000143630		"Voltage-gated ion channels / Cyclic nucleotide-regulated channels"	19183	protein-coding gene	gene with protein product		609973				16382102	Standard	NM_020897		Approved	KIAA1535	uc001fjz.2	Q9P1Z3	OTTHUMG00000035872	ENST00000368358.3:c.978G>A	1.37:g.155254437G>A	ENSP00000357342:p.Trp326*					HCN3_ENST00000496230.1_3'UTR	p.W326*	NM_020897.1	NP_065948.1	Q9P1Z3	HCN3_HUMAN	Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)		4	986	+	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		326					D3DV90|Q4VX12|Q8N6W6|Q9BWQ2	Nonsense_Mutation	SNP	ENST00000368358.3	37	c.978G>A	CCDS1108.1	.	.	.	.	.	.	.	.	.	.	G	36	5.601609	0.96614	.	.	ENSG00000143630	ENST00000368358	.	.	.	5.18	5.18	0.71444	.	0.000000	0.48286	D	0.000198	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06494	T	0.89	.	16.5568	0.84487	0.0:0.0:1.0:0.0	.	.	.	.	X	326	.	ENSP00000357342:W326X	W	+	3	0	HCN3	153521061	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.810000	0.99221	2.573000	0.86826	0.552000	0.68991	TGG		0.607	HCN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087388.1	NM_020897		27	24	0	0	0	1	0	27	24					A	155254437	G	A	155254437	4	1	435	1	0	0	0	0	0	1	0	0	6998	1212	42	3	992	3	HCN3	1	155254437	Nonsense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	48278	155254437	93996184	602	21527											
PKLR	5313	broad.mit.edu	37	chr1	155261708	155261708	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgctgcccgaggtcggtacCgagacagaagctgggctgag	8	6	16	11	3	0	3	0	1	0	2	1	5	0	3	2	3	4	4	2	3	2	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:155261708C>T	ENST00000342741.4	-	10	1495	c.1457G>A	c.(1456-1458)cGg>cAg	p.R486Q	PKLR_ENST00000392414.3_Missense_Mutation_p.R455Q	NM_000298.5	NP_000289.1	P30613	KPYR_HUMAN	pyruvate kinase, liver and RBC	486			R -> W (in PKRD; frequent mutation; no conformational change; dbSNP:rs116100695). {ECO:0000269|PubMed:8483951, ECO:0000269|PubMed:9482576, ECO:0000269|PubMed:9827908}.		ATP biosynthetic process (GO:0006754)|carbohydrate metabolic process (GO:0005975)|cellular response to insulin stimulus (GO:0032869)|endocrine pancreas development (GO:0031018)|energy reserve metabolic process (GO:0006112)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|positive regulation of cellular metabolic process (GO:0031325)|pyruvate biosynthetic process (GO:0042866)|response to ATP (GO:0033198)|response to cAMP (GO:0051591)|response to glucose (GO:0009749)|response to heat (GO:0009408)|response to hypoxia (GO:0001666)|response to lithium ion (GO:0010226)|response to nutrient (GO:0007584)|response to other organism (GO:0051707)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|potassium ion binding (GO:0030955)|pyruvate kinase activity (GO:0004743)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_lung(78;6.99e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;3.18e-10)|all cancers(21;7.9e-10)|BRCA - Breast invasive adenocarcinoma(34;0.00116)|LUSC - Lung squamous cell carcinoma(543;0.127)		Pyruvic acid(DB00119)	AGGTCGGTACCGAGACAGAAG	0.577																																						ENST00000392414.3																			0				NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	GRCh37	CM061899	PKLR	M		c.(1363-1365)cGg>cAg		pyruvate kinase, liver and RBC	Pyruvic acid(DB00119)						47	44	45					1																	155261708		2203	4300	6503	SO:0001583	missense	5313				endocrine pancreas development|energy reserve metabolic process|glycolysis|positive regulation of cellular metabolic process	cytosol	ATP binding|magnesium ion binding|potassium ion binding|pyruvate kinase activity	g.chr1:155261708C>T	BC025737, M15465	CCDS1109.1, CCDS44240.1	1q22	2012-10-02			ENSG00000143627	ENSG00000143627	2.7.1.40		9020	protein-coding gene	gene with protein product		609712				3566732	Standard	NM_000298		Approved		uc001fkb.4	P30613	OTTHUMG00000035875	ENST00000342741.4:c.1457G>A	1.37:g.155261708C>T	ENSP00000339933:p.Arg486Gln					PKLR_ENST00000342741.4_Missense_Mutation_p.R486Q	p.R455Q	NM_181871.3	NP_870986.1	P30613	KPYR_HUMAN	Epithelial(20;3.18e-10)|all cancers(21;7.9e-10)|BRCA - Breast invasive adenocarcinoma(34;0.00116)|LUSC - Lung squamous cell carcinoma(543;0.127)		10	1477	-	all_lung(78;6.99e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		486					O75758|P11973	Missense_Mutation	SNP	ENST00000342741.4	37	c.1364G>A	CCDS1109.1	.	.	.	.	.	.	.	.	.	.	C	15.45	2.837117	0.50951	.	.	ENSG00000143627	ENST00000423816;ENST00000392414;ENST00000342741;ENST00000271946	D;D	0.99388	-5.81;-5.81	4.85	0.829	0.18847	Pyruvate kinase, C-terminal (2);Pyruvate kinase, alpha/beta (1);	0.183484	0.45867	N	0.000337	D	0.98251	0.9421	M	0.91510	3.215	0.43408	D	0.995542	B;B	0.31931	0.347;0.347	B;B	0.35727	0.209;0.209	D	0.96830	0.9610	10	0.66056	D	0.02	-12.0621	10.9328	0.47228	0.0:0.7545:0.0:0.2455	.	486;477	P30613;B1AVT1	KPYR_HUMAN;.	Q	511;455;486;400	ENSP00000376214:R455Q;ENSP00000339933:R486Q	ENSP00000271946:R400Q	R	-	2	0	PKLR	153528332	0.989000	0.36119	0.969000	0.41365	0.747000	0.42532	2.507000	0.45442	0.062000	0.16340	-1.305000	0.01319	CGG		0.577	PKLR-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000087407.2	NM_000298		17	28	0	0	0	1	0	17	28					T	155261708	C	T	155261708	3	4	435	1	0	0	0	0	1	0	0	0	11976	652	23	2	275	2	PKLR	1	155261708	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	7271	155261708	93988913	603	21528											
ASH1L	55870	broad.mit.edu	37	chr1	155313529	155313529	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccctcatcagatacacacaGtcacctaggaagacccagaa	15	6	6	14	0	3	3	3	0	0	3	4	4	4	4	3	1	1	0	3	1	4	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:155313529G>A	ENST00000368346.3	-	23	8640	c.8001C>T	c.(7999-8001)gaC>gaT	p.D2667D	MIR555_ENST00000384987.1_RNA|ASH1L_ENST00000392403.3_Silent_p.D2662D			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	2667	BAH. {ECO:0000255|PROSITE- ProRule:PRU00370}.				cell-cell signaling (GO:0007267)|DNA packaging (GO:0006323)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|tight junction (GO:0005923)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			GATACACACAGTCACCTAGGA	0.448																																						ENST00000368346.3																			0				autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124						c.(7999-8001)gaC>gaT		ash1 (absent, small, or homeotic)-like (Drosophila)							56	55	55					1																	155313529		2203	4300	6503	SO:0001819	synonymous_variant	55870				cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|Golgi apparatus|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding	g.chr1:155313529G>A	AB037841	CCDS1113.2	1q22	2013-01-28			ENSG00000116539	ENSG00000116539		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	19088	protein-coding gene	gene with protein product		607999				10860993, 16545939	Standard	NM_018489		Approved	huASH1, ASH1, ASH1L1, KMT2H	uc001fkt.3	Q9NR48	OTTHUMG00000014011	ENST00000368346.3:c.8001C>T	1.37:g.155313529G>A						ASH1L_ENST00000392403.3_Silent_p.D2662D	p.D2667D			Q9NR48	ASH1L_HUMAN	Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)		23	8640	-	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		2667			BAH.		Q59GP1|Q5T714|Q5T715|Q9P2C7	Silent	SNP	ENST00000368346.3	37	c.8001C>T																																																																																					0.448	ASH1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000039400.1	NM_018489		16	26	0	0	0	1	0	16	26					A	155313529	G	A	155313529	2	1	435	1	0	0	0	0	0	0	0	1	1041	1020	36	3		3	ASH1L	1	155313529	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	51821	155313529	93937092	604	21529											
MSTO1	55154	broad.mit.edu	37	chr1	155582956	155582956	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccactgtctgcatgtggggaGccttctggaacacgttgctt	6	12	12	11	1	2	0	0	0	2	0	2	2	2	2	2	3	4	3	2	3	1	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:155582956G>A	ENST00000245564.2	+	11	1239	c.1215G>A	c.(1213-1215)gaG>gaA	p.E405E	MSTO1_ENST00000452804.2_Intron|MSTO1_ENST00000538143.1_Intron|RP11-29H23.4_ENST00000456382.2_RNA|MSTO1_ENST00000368341.4_Silent_p.E370E|MSTO1_ENST00000483734.1_3'UTR	NM_001256532.1|NM_001256533.1|NM_018116.3	NP_001243461.1|NP_001243462.1|NP_060586.2	Q9BUK6	MSTO1_HUMAN	misato 1, mitochondrial distribution and morphology regulator	405					mitochondrion distribution (GO:0048311)|mitochondrion organization (GO:0007005)	cytoplasm (GO:0005737)|mitochondrial outer membrane (GO:0005741)				breast(2)|endometrium(1)|lung(3)|skin(1)	7	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)					CATGTGGGGAGCCTTCTGGAA	0.567																																						ENST00000245564.2																			0				breast(2)|endometrium(1)|lung(3)|skin(1)	7						c.(1213-1215)gaG>gaA		misato 1, mitochondrial distribution and morphology regulator							73	74	74					1																	155582956		2203	4298	6501	SO:0001819	synonymous_variant	55154				mitochondrion distribution|protein polymerization	mitochondrial outer membrane|protein complex		g.chr1:155582956G>A	BX537684	CCDS1114.1	1q22	2013-08-21	2013-08-21		ENSG00000125459	ENSG00000125459			29678	protein-coding gene	gene with protein product			"misato homolog 1 (Drosophila)"			16545939, 17349998	Standard	NM_018116		Approved	FLJ10504, LST005, MST, misato	uc001fky.4	Q9BUK6	OTTHUMG00000014014	ENST00000245564.2:c.1215G>A	1.37:g.155582956G>A						MSTO1_ENST00000452804.2_Intron|MSTO1_ENST00000483734.1_3'UTR|MSTO1_ENST00000538143.1_Intron|MSTO1_ENST00000368341.4_Silent_p.E370E	p.E405E	NM_001256532.1|NM_001256533.1|NM_018116.3	NP_001243461.1|NP_001243462.1|NP_060586.2	Q9BUK6	MSTO1_HUMAN			11	1239	+	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		405					Q53GR8|Q5CZ69|Q5T717|Q68CT6|Q7LBZ8|Q7Z3M7|Q7Z558|Q8TE05|Q9NQX2|Q9NVU4	Silent	SNP	ENST00000245564.2	37	c.1215G>A	CCDS1114.1																																																																																				0.567	MSTO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039408.1	NM_018116		26	39	0	0	0	1	0	26	39					A	155582956	G	A	155582956	2	1	435	1	0	0	0	0	0	0	0	1	9894	962	34	3		3	MSTO1	1	155582956	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	269427	155582956	93667665	605	21530											
YY1AP1	55249	broad.mit.edu	37	chr1	155629458	155629458	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ttctcctagctcaaagaaatCcactgatttcctctgtagca	11	13	5	12	0	3	2	1	1	2	1	6	2	5	2	3	0	2	3	3	0	4	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:155629458C>T	ENST00000295566.4	-	11	2404	c.2381G>A	c.(2380-2382)gGa>gAa	p.G794E	YY1AP1_ENST00000347088.5_Missense_Mutation_p.G748E|YY1AP1_ENST00000361831.5_Missense_Mutation_p.G737E|YY1AP1_ENST00000407221.1_Missense_Mutation_p.G717E|YY1AP1_ENST00000368330.2_Missense_Mutation_p.G748E|YY1AP1_ENST00000355499.4_Missense_Mutation_p.G748E|YY1AP1_ENST00000535662.1_Missense_Mutation_p.G594E|MSTO1_ENST00000452804.2_Intron|MSTO1_ENST00000538143.1_Intron|YY1AP1_ENST00000368339.5_Missense_Mutation_p.G886E|YY1AP1_ENST00000404643.1_Missense_Mutation_p.G728E|YY1AP1_ENST00000368340.5_Missense_Mutation_p.G866E|YY1AP1_ENST00000359205.5_Missense_Mutation_p.G737E|YY1AP1_ENST00000311573.5_Missense_Mutation_p.G717E	NM_001198906.1|NM_139118.2	NP_001185835.1|NP_620829.1	Q9H869	YYAP1_HUMAN	YY1 associated protein 1	794					regulation of cell cycle (GO:0051726)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(7)|ovary(2)|skin(2)|urinary_tract(2)	31	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)					TCAAAGAAATCCACTGATTTC	0.493																																						ENST00000368340.5																			0				central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(7)|ovary(2)|skin(2)|urinary_tract(2)	31						c.(2596-2598)gGa>gAa		YY1 associated protein 1							115	127	123					1																	155629458		2203	4300	6503	SO:0001583	missense	55249							g.chr1:155629458C>T	BC008766	CCDS1115.1, CCDS1116.1, CCDS55643.1, CCDS55644.1, CCDS55645.1	1q22	2009-05-07			ENSG00000163374	ENSG00000163374			30935	protein-coding gene	gene with protein product		607860				11710830	Standard	NM_139119		Approved	YY1AP, HCCA2, YAP		Q9H869	OTTHUMG00000035437	ENST00000295566.4:c.2381G>A	1.37:g.155629458C>T	ENSP00000295566:p.Gly794Glu					YY1AP1_ENST00000368339.5_Missense_Mutation_p.G886E|YY1AP1_ENST00000368330.2_Missense_Mutation_p.G748E|MSTO1_ENST00000452804.2_Intron|YY1AP1_ENST00000311573.5_Missense_Mutation_p.G717E|YY1AP1_ENST00000361831.5_Missense_Mutation_p.G737E|YY1AP1_ENST00000404643.1_Missense_Mutation_p.G728E|MSTO1_ENST00000538143.1_Intron|YY1AP1_ENST00000407221.1_Missense_Mutation_p.G717E|YY1AP1_ENST00000295566.4_Missense_Mutation_p.G794E|YY1AP1_ENST00000535662.1_Missense_Mutation_p.G594E|YY1AP1_ENST00000347088.5_Missense_Mutation_p.G748E|YY1AP1_ENST00000355499.4_Missense_Mutation_p.G748E|YY1AP1_ENST00000359205.5_Missense_Mutation_p.G737E	p.G866E	NM_001198904.1	NP_001185833.1					10	2705	-	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)							B0QZ54|B4DMP2|B4E0I0|D3DV96|D3DV98|H7BY62|Q5VYZ1|Q5VYZ4|Q5VYZ7|Q7L4C3|Q7L5E2|Q8IXA6|Q8TEW5|Q8TF04|Q96HB6|Q9BQ64|Q9NV84	Missense_Mutation	SNP	ENST00000295566.4	37	c.2597G>A	CCDS1115.1	.	.	.	.	.	.	.	.	.	.	c	12.17	1.858231	0.32791	.	.	ENSG00000163374	ENST00000359205;ENST00000355499;ENST00000311573;ENST00000347088;ENST00000361831;ENST00000368340;ENST00000295566;ENST00000368330;ENST00000407221;ENST00000404643;ENST00000368339;ENST00000535662	T;T;T;T;T;T;T;T;T;T;T;T	0.31769	1.77;1.78;1.79;1.78;1.77;1.53;1.66;1.78;1.79;1.79;1.48;1.77	1.28	1.28	0.21552	.	0.307408	0.31010	N	0.008423	T	0.18593	0.0446	N	0.22421	0.69	0.09310	N	1	B;D;D;D;D	0.76494	0.258;0.961;0.999;0.961;0.979	B;P;D;P;P	0.80764	0.058;0.666;0.994;0.666;0.801	T	0.03576	-1.1023	10	0.72032	D	0.01	.	3.5617	0.07885	0.0:0.7479:0.0:0.2521	.	886;728;794;748;866	B4DMP2;Q9H869-4;Q9H869;Q9H869-2;Q5VYZ1	.;.;YYAP1_HUMAN;.;.	E	737;748;717;748;737;866;794;748;717;728;886;594	ENSP00000352134:G737E;ENSP00000347686:G748E;ENSP00000311138:G717E;ENSP00000316079:G748E;ENSP00000355298:G737E;ENSP00000357324:G866E;ENSP00000295566:G794E;ENSP00000357314:G748E;ENSP00000385791:G717E;ENSP00000385390:G728E;ENSP00000357323:G886E;ENSP00000437926:G594E	ENSP00000295566:G794E	G	-	2	0	YY1AP1	153896082	0.000000	0.05858	0.013000	0.15412	0.021000	0.10359	0.014000	0.13333	1.012000	0.39366	0.313000	0.20887	GGA		0.493	YY1AP1-043	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000086027.1	NM_139118		5	91	0	0	0	1	0	5	91					T	155629458	C	T	155629458	3	4	435	1	0	0	0	0	1	0	0	0	17505	855	30	3	13	3	YY1AP1	1	155629458	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	46502	155629458	93621163	606	21531											
YY1AP1	55249	broad.mit.edu	37	chr1	155630479	155630479	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gggtttcaggactgatgaacGcttctgtctccaagccttct	7	13	10	11	1	4	2	1	2	3	0	5	3	4	3	2	2	2	2	2	2	2	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:155630479G>A	ENST00000295566.4	-	11	1383	c.1360C>T	c.(1360-1362)Cgt>Tgt	p.R454C	YY1AP1_ENST00000347088.5_Missense_Mutation_p.R408C|YY1AP1_ENST00000361831.5_Missense_Mutation_p.R397C|YY1AP1_ENST00000407221.1_Missense_Mutation_p.R377C|YY1AP1_ENST00000368330.2_Missense_Mutation_p.R408C|YY1AP1_ENST00000355499.4_Missense_Mutation_p.R408C|YY1AP1_ENST00000535662.1_Missense_Mutation_p.R254C|MSTO1_ENST00000452804.2_Intron|MSTO1_ENST00000538143.1_Intron|YY1AP1_ENST00000368339.5_Missense_Mutation_p.R546C|YY1AP1_ENST00000404643.1_Missense_Mutation_p.R388C|YY1AP1_ENST00000368340.5_Missense_Mutation_p.R526C|YY1AP1_ENST00000359205.5_Missense_Mutation_p.R397C|YY1AP1_ENST00000311573.5_Missense_Mutation_p.R377C	NM_001198906.1|NM_139118.2	NP_001185835.1|NP_620829.1	Q9H869	YYAP1_HUMAN	YY1 associated protein 1	454					regulation of cell cycle (GO:0051726)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(7)|ovary(2)|skin(2)|urinary_tract(2)	31	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)					ACTGATGAACGCTTCTGTCTC	0.542																																						ENST00000368340.5																			0				central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(7)|ovary(2)|skin(2)|urinary_tract(2)	31						c.(1576-1578)Cgt>Tgt		YY1 associated protein 1							128	133	131					1																	155630479		2203	4300	6503	SO:0001583	missense	55249							g.chr1:155630479G>A	BC008766	CCDS1115.1, CCDS1116.1, CCDS55643.1, CCDS55644.1, CCDS55645.1	1q22	2009-05-07			ENSG00000163374	ENSG00000163374			30935	protein-coding gene	gene with protein product		607860				11710830	Standard	NM_139119		Approved	YY1AP, HCCA2, YAP		Q9H869	OTTHUMG00000035437	ENST00000295566.4:c.1360C>T	1.37:g.155630479G>A	ENSP00000295566:p.Arg454Cys					YY1AP1_ENST00000368339.5_Missense_Mutation_p.R546C|YY1AP1_ENST00000368330.2_Missense_Mutation_p.R408C|MSTO1_ENST00000452804.2_Intron|YY1AP1_ENST00000311573.5_Missense_Mutation_p.R377C|YY1AP1_ENST00000361831.5_Missense_Mutation_p.R397C|YY1AP1_ENST00000404643.1_Missense_Mutation_p.R388C|MSTO1_ENST00000538143.1_Intron|YY1AP1_ENST00000407221.1_Missense_Mutation_p.R377C|YY1AP1_ENST00000295566.4_Missense_Mutation_p.R454C|YY1AP1_ENST00000535662.1_Missense_Mutation_p.R254C|YY1AP1_ENST00000347088.5_Missense_Mutation_p.R408C|YY1AP1_ENST00000355499.4_Missense_Mutation_p.R408C|YY1AP1_ENST00000359205.5_Missense_Mutation_p.R397C	p.R526C	NM_001198904.1	NP_001185833.1					10	1684	-	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)							B0QZ54|B4DMP2|B4E0I0|D3DV96|D3DV98|H7BY62|Q5VYZ1|Q5VYZ4|Q5VYZ7|Q7L4C3|Q7L5E2|Q8IXA6|Q8TEW5|Q8TF04|Q96HB6|Q9BQ64|Q9NV84	Missense_Mutation	SNP	ENST00000295566.4	37	c.1576C>T	CCDS1115.1	.	.	.	.	.	.	.	.	.	.	g	10.70	1.424720	0.25639	.	.	ENSG00000163374	ENST00000359205;ENST00000355499;ENST00000311573;ENST00000347088;ENST00000361831;ENST00000368340;ENST00000295566;ENST00000368330;ENST00000407221;ENST00000404643;ENST00000368339;ENST00000535662	T;T;T;T;T;T;T;T;T;T;T;T	0.56444	0.46;0.46;0.46;0.46;0.46;0.46;0.46;0.46;0.46;0.46;0.46;0.46	1.97	1.97	0.26223	.	0.188047	0.31071	N	0.008310	T	0.56262	0.1973	M	0.66939	2.045	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.999;0.995;1.0;1.0	D;P;D;D;D	0.73708	0.981;0.862;0.963;0.931;0.938	T	0.60727	-0.7206	10	0.87932	D	0	.	8.154	0.31158	0.0:0.0:0.6278:0.3722	.	546;388;454;408;526	B4DMP2;Q9H869-4;Q9H869;Q9H869-2;Q5VYZ1	.;.;YYAP1_HUMAN;.;.	C	397;408;377;408;397;526;454;408;377;388;546;254	ENSP00000352134:R397C;ENSP00000347686:R408C;ENSP00000311138:R377C;ENSP00000316079:R408C;ENSP00000355298:R397C;ENSP00000357324:R526C;ENSP00000295566:R454C;ENSP00000357314:R408C;ENSP00000385791:R377C;ENSP00000385390:R388C;ENSP00000357323:R546C;ENSP00000437926:R254C	ENSP00000295566:R454C	R	-	1	0	YY1AP1	153897103	0.995000	0.38212	0.987000	0.45799	0.162000	0.22319	1.127000	0.31357	1.419000	0.47118	0.306000	0.20318	CGT		0.542	YY1AP1-043	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000086027.1	NM_139118		33	55	0	0	0	1	0	33	55					A	155630479	G	A	155630479	3	1	435	1	0	0	0	0	1	0	0	0	17505	1087	38	1	1034	1	YY1AP1	1	155630479	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	1021	155630479	93620142	607	21532											
GON4L	54856	broad.mit.edu	37	chr1	155721807	155721807	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accttgctgttgttggcacaCaccgtagcttctgcggcctt	5	13	10	13	2	1	0	0	0	1	0	1	0	1	0	3	2	3	6	3	2	1	6	rs369594287		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:155721807C>T	ENST00000368331.1	-	30	6465	c.6417G>A	c.(6415-6417)gtG>gtA	p.V2139V	GON4L_ENST00000437809.1_Silent_p.V2138V|GON4L_ENST00000271883.5_Silent_p.V2138V	NM_001282858.1|NM_001282860.1	NP_001269787.1|NP_001269789.1	Q3T8J9	GON4L_HUMAN	gon-4-like (C. elegans)	2139					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	45	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)					TGTTGGCACACACCGTAGCTT	0.557																																						ENST00000437809.1																			0				NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	45						c.(6412-6414)gtG>gtA		gon-4-like (C. elegans)							103	92	96					1																	155721807		2020	4173	6193	SO:0001819	synonymous_variant	54856				regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding	g.chr1:155721807C>T	AB046826	CCDS1121.1, CCDS44242.1, CCDS60296.1	1q22	2013-10-31	2006-11-08	2006-02-16	ENSG00000116580	ENSG00000116580			25973	protein-coding gene	gene with protein product		610393	"gon-4 homolog (C.elegans)"	GON4		16545939, 21454521	Standard	XM_005245283		Approved	FLJ20203, GON-4	uc001fly.1	Q3T8J9	OTTHUMG00000014106	ENST00000368331.1:c.6417G>A	1.37:g.155721807C>T						GON4L_ENST00000271883.5_Silent_p.V2138V|GON4L_ENST00000368331.1_Silent_p.V2139V	p.V2138V			Q3T8J9	GON4L_HUMAN			30	6536	-	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)		2139					B7ZBL4|Q14C93|Q3T8J8|Q5VYZ5|Q5W0D5|Q6AWA6|Q6P1Q6|Q7Z3L3|Q8IY79|Q9BQI1|Q9HCG6	Silent	SNP	ENST00000368331.1	37	c.6414G>A																																																																																					0.557	GON4L-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_032292		52	63	0	0	0	1	0	52	63					T	155721807	C	T	155721807	2	4	435	1	0	0	0	0	0	0	0	1	6572	465	17	3		3	GON4L	1	155721807	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	91328	155721807	93528814	608	21533											
GON4L	54856	broad.mit.edu	37	chr1	155734786	155734786	+	Intron	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cttgagaatattctccagctCtcacctggagttctgggaca	9	12	9	11	0	3	1	1	1	3	1	5	4	3	3	2	2	1	2	2	2	2	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:155734786C>T	ENST00000368331.1	-	21	4522				GON4L_ENST00000437809.1_Intron|GON4L_ENST00000271883.5_Intron|GON4L_ENST00000361040.5_Missense_Mutation_p.R1493K|GON4L_ENST00000471341.1_5'UTR	NM_001282858.1|NM_001282860.1	NP_001269787.1|NP_001269789.1	Q3T8J9	GON4L_HUMAN	gon-4-like (C. elegans)						regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	45	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)					TTCTCCAGCTCTCACCTGGAG	0.433																																						ENST00000361040.5																			0				NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	45						c.(4477-4479)aGa>aAa		gon-4-like (C. elegans)							73	67	69					1																	155734786		2203	4300	6503	SO:0001627	intron_variant	54856				regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding	g.chr1:155734786C>T	AB046826	CCDS1121.1, CCDS44242.1, CCDS60296.1	1q22	2013-10-31	2006-11-08	2006-02-16	ENSG00000116580	ENSG00000116580			25973	protein-coding gene	gene with protein product		610393	"gon-4 homolog (C.elegans)"	GON4		16545939, 21454521	Standard	XM_005245283		Approved	FLJ20203, GON-4	uc001fly.1	Q3T8J9	OTTHUMG00000014106	ENST00000368331.1:c.4473+4G>A	1.37:g.155734786C>T						GON4L_ENST00000271883.5_Intron|GON4L_ENST00000368331.1_Intron|GON4L_ENST00000437809.1_Intron|GON4L_ENST00000471341.1_5'UTR	p.R1493K	NM_032292.4	NP_115668.4	Q3T8J9	GON4L_HUMAN			21	4549	-	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)		0			Glu-rich.		B7ZBL4|Q14C93|Q3T8J8|Q5VYZ5|Q5W0D5|Q6AWA6|Q6P1Q6|Q7Z3L3|Q8IY79|Q9BQI1|Q9HCG6	Missense_Mutation	SNP	ENST00000368331.1	37	c.4478G>A		.	.	.	.	.	.	.	.	.	.	C	18.71	3.683153	0.68157	.	.	ENSG00000116580	ENST00000361040	T	0.13307	2.6	5.03	5.03	0.67393	.	.	.	.	.	T	0.03608	0.0103	N	0.08118	0	0.80722	D	1	B	0.32467	0.372	B	0.30855	0.121	T	0.30534	-0.9975	9	0.87932	D	0	.	12.6465	0.56738	0.0:0.9197:0.0:0.0803	.	1493	Q3T8J9-2	.	K	1493	ENSP00000354322:R1493K	ENSP00000354322:R1493K	R	-	2	0	GON4L	154001410	0.029000	0.19370	0.866000	0.34008	0.868000	0.49771	0.575000	0.23729	2.630000	0.89119	0.650000	0.86243	AGA		0.433	GON4L-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_032292		19	34	0	0	0	1	0	19	34					T	155734786	C	T	155734786	1	4	435	0	1	0	0	0	0	0	0	0	6572	913	32	3		3	GON4L	1	155734786	Intron	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	12979	155734786	93515835	609	21534											
GON4L	54856	broad.mit.edu	37	chr1	155744931	155744931	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttgtactgatggtgaagggCgatggagctttgagcaaagg	10	10	17	4	1	0	3	0	3	0	0	0	5	0	4	0	4	3	4	0	4	3	3	rs367979838		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:155744931C>T	ENST00000368331.1	-	17	2260	c.2212G>A	c.(2212-2214)Gcc>Acc	p.A738T	GON4L_ENST00000437809.1_Missense_Mutation_p.A738T|GON4L_ENST00000271883.5_Missense_Mutation_p.A738T|GON4L_ENST00000361040.5_Missense_Mutation_p.A738T|GON4L_ENST00000471341.1_5'UTR	NM_001282858.1|NM_001282860.1	NP_001269787.1|NP_001269789.1	Q3T8J9	GON4L_HUMAN	gon-4-like (C. elegans)	738					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	45	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)					TGGTGAAGGGCGATGGAGCTT	0.453																																						ENST00000437809.1																			0				NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	45						c.(2212-2214)Gcc>Acc		gon-4-like (C. elegans)		C	THR/ALA,THR/ALA	0,4406		0,0,2203	86	87	86		2212,2212	2.7	0.5	1		86	1,8595	1.2+/-3.3	0,1,4297	no	missense,missense	GON4L	NM_032292.4,NM_001037533.1	58,58	0,1,6500	TT,TC,CC		0.0116,0.0,0.0077	benign,benign	738/1530,738/2241	155744931	1,13001	2203	4298	6501	SO:0001583	missense	54856				regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding	g.chr1:155744931C>T	AB046826	CCDS1121.1, CCDS44242.1, CCDS60296.1	1q22	2013-10-31	2006-11-08	2006-02-16	ENSG00000116580	ENSG00000116580			25973	protein-coding gene	gene with protein product		610393	"gon-4 homolog (C.elegans)"	GON4		16545939, 21454521	Standard	XM_005245283		Approved	FLJ20203, GON-4	uc001fly.1	Q3T8J9	OTTHUMG00000014106	ENST00000368331.1:c.2212G>A	1.37:g.155744931C>T	ENSP00000357315:p.Ala738Thr					GON4L_ENST00000271883.5_Missense_Mutation_p.A738T|GON4L_ENST00000368331.1_Missense_Mutation_p.A738T|GON4L_ENST00000361040.5_Missense_Mutation_p.A738T|GON4L_ENST00000471341.1_5'UTR	p.A738T			Q3T8J9	GON4L_HUMAN			17	2334	-	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)		738					B7ZBL4|Q14C93|Q3T8J8|Q5VYZ5|Q5W0D5|Q6AWA6|Q6P1Q6|Q7Z3L3|Q8IY79|Q9BQI1|Q9HCG6	Missense_Mutation	SNP	ENST00000368331.1	37	c.2212G>A		.	.	.	.	.	.	.	.	.	.	C	10.97	1.500256	0.26861	0.0	1.16E-4	ENSG00000116580	ENST00000437809;ENST00000368331;ENST00000271883;ENST00000539959;ENST00000361040;ENST00000368327	T;T;T;T	0.12039	2.92;2.92;2.92;2.72	4.57	2.68	0.31781	.	0.339237	0.27677	N	0.018309	T	0.02649	0.0080	L	0.47716	1.5	0.09310	N	1	B;B;B;B;B	0.30326	0.005;0.026;0.276;0.056;0.093	B;B;B;B;B	0.19148	0.006;0.009;0.024;0.009;0.02	T	0.41538	-0.9503	10	0.30854	T	0.27	.	1.8164	0.03101	0.1621:0.4975:0.1576:0.1827	.	518;738;738;738;738	Q6PHZ4;A4PB68;Q3T8J9-2;Q3T8J9;Q3T8J9-3	.;.;.;GON4L_HUMAN;.	T	738;738;738;738;738;188	ENSP00000396117:A738T;ENSP00000357315:A738T;ENSP00000271883:A738T;ENSP00000354322:A738T	ENSP00000271883:A738T	A	-	1	0	GON4L	154011555	0.403000	0.25319	0.455000	0.27031	0.994000	0.84299	0.956000	0.29202	0.546000	0.28920	0.484000	0.47621	GCC		0.453	GON4L-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_032292		12	28	0	0	0	1	0	12	28					T	155744931	C	T	155744931	3	4	435	1	0	0	0	0	1	0	0	0	6572	768	27	1	4691	1	GON4L	1	155744931	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	10145	155744931	93505690	610	21535											
RXFP4	339403	broad.mit.edu	37	chr1	155912363	155912363	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tactttctatactatccagaCgtatgtcttccctgtcacta	9	16	4	12	1	3	1	1	0	2	1	5	1	5	1	2	0	2	1	2	0	6	8	rs186678827		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:155912363C>T	ENST00000368318.3	+	1	884	c.863C>T	c.(862-864)aCg>aTg	p.T288M		NM_181885.2	NP_871001.1	Q8TDU9	RL3R2_HUMAN	relaxin/insulin-like family peptide receptor 4	288						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	angiotensin type II receptor activity (GO:0004945)			endometrium(1)|large_intestine(4)|lung(6)|ovary(1)|skin(1)	13	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)					ACTATCCAGACGTATGTCTTC	0.547													C|||	1	0.000199681	0	0	5008	,	,		19260	0		0.001	False		,,,				2504	0					ENST00000368318.3																			0				endometrium(1)|large_intestine(4)|lung(6)|ovary(1)|skin(1)	13						c.(862-864)aCg>aTg		relaxin/insulin-like family peptide receptor 4		C	MET/THR	0,4406		0,0,2203	112	101	105		863	2.8	0	1		105	2,8598	2.2+/-6.3	0,2,4298	yes	missense	RXFP4	NM_181885.2	81	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	benign	288/375	155912363	2,13004	2203	4300	6503	SO:0001583	missense	339403					integral to membrane|plasma membrane	angiotensin type II receptor activity	g.chr1:155912363C>T	AB065617	CCDS1124.1	1q22	2012-08-08	2006-05-09	2006-03-15	ENSG00000173080	ENSG00000173080		"GPCR / Class A : Relaxin family peptide receptors"	14666	protein-coding gene	gene with protein product		609043	"G protein-coupled receptor 100", "relaxin 3 receptor 2", "relaxin family peptide receptor 4"	GPR100, RLN3R2		15956688, 16507880	Standard	NM_181885		Approved	GPCR142, RXFPR4	uc010pgs.2	Q8TDU9	OTTHUMG00000017463	ENST00000368318.3:c.863C>T	1.37:g.155912363C>T	ENSP00000357301:p.Thr288Met						p.T288M	NM_181885.2	NP_871001.1	Q8TDU9	RL3R2_HUMAN			1	884	+	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		288					B0M0L4|Q3MJB1|Q8NGZ8	Missense_Mutation	SNP	ENST00000368318.3	37	c.863C>T	CCDS1124.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	11.22	1.573295	0.28092	0.0	2.33E-4	ENSG00000173080	ENST00000368318	T	0.72615	-0.67	4.75	2.83	0.33086	GPCR, rhodopsin-like superfamily (1);	0.068202	0.56097	D	0.000028	T	0.47875	0.1469	L	0.43923	1.385	0.34406	D	0.695795	P	0.48230	0.907	B	0.43658	0.426	T	0.49960	-0.8883	10	0.54805	T	0.06	-19.8557	8.4726	0.32995	0.0:0.7579:0.1548:0.0873	.	288	Q8TDU9	RL3R2_HUMAN	M	288	ENSP00000357301:T288M	ENSP00000357301:T288M	T	+	2	0	RXFP4	154178987	0.006000	0.16342	0.001000	0.08648	0.216000	0.24613	1.764000	0.38471	0.582000	0.29556	0.655000	0.94253	ACG		0.547	RXFP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046203.1	NM_181885		28	47	0	0	0	1	0	28	47					T	155912363	C	T	155912363	3	4	435	1	0	0	0	0	1	0	0	0	13762	536	19	1	865	1	RXFP4	1	155912363	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	167432	155912363	93338258	611	21536											
ARHGEF2	9181	broad.mit.edu	37	chr1	155931685	155931685	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgctgtggtcaggtcctggCgctcctcctcgatccctggc	2	11	13	15	2	1	0	1	0	0	0	6	1	5	0	4	4	1	2	4	4	0	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:155931685C>T	ENST00000361247.4	-	11	1334	c.1235G>A	c.(1234-1236)cGc>cAc	p.R412H	ARHGEF2_ENST00000462460.2_Missense_Mutation_p.R457H|ARHGEF2_ENST00000477754.2_Intron|ARHGEF2_ENST00000368315.4_Missense_Mutation_p.R413H|ARHGEF2_ENST00000313695.7_Missense_Mutation_p.R384H|ARHGEF2_ENST00000368316.1_Missense_Mutation_p.R384H|ARHGEF2_ENST00000313667.4_Missense_Mutation_p.R411H	NM_001162383.1|NM_001162384.1	NP_001155855.1|NP_001155856.1	Q92974	ARHG2_HUMAN	Rho/Rac guanine nucleotide exchange factor (GEF) 2	412	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				actin filament organization (GO:0007015)|apoptotic signaling pathway (GO:0097190)|cell morphogenesis (GO:0000902)|cellular hyperosmotic response (GO:0071474)|cellular response to muramyl dipeptide (GO:0071225)|cellular response to tumor necrosis factor (GO:0071356)|establishment of mitotic spindle orientation (GO:0000132)|innate immune response (GO:0045087)|intracellular protein transport (GO:0006886)|mitotic nuclear division (GO:0007067)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of intrinsic apoptotic signaling pathway in response to osmotic stress (GO:1902219)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of necroptotic process (GO:0060546)|negative regulation of neurogenesis (GO:0050768)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of cell proliferation (GO:0042127)|regulation of Rho protein signal transduction (GO:0035023)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|neuronal cell body (GO:0043025)|protein complex (GO:0043234)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)|vesicle (GO:0031982)	microtubule binding (GO:0008017)|Rac GTPase binding (GO:0048365)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|Rho GTPase binding (GO:0017048)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			breast(4)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|skin(2)	40	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)					CAGGTCCTGGCGCTCCTCCTC	0.582																																					Melanoma(178;35 2768 6610 28839)	ENST00000368316.1																			0				breast(4)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|skin(2)	40						c.(1150-1152)cGc>cAc		Rho/Rac guanine nucleotide exchange factor (GEF) 2							77	76	76					1																	155931685		2203	4300	6503	SO:0001583	missense	9181				actin filament organization|apoptosis|cell division|cell morphogenesis|induction of apoptosis by extracellular signals|intracellular protein transport|mitosis|negative regulation of microtubule depolymerization|nerve growth factor receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|regulation of cell proliferation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|Golgi apparatus|microtubule|ruffle membrane|spindle|tight junction	microtubule binding|Rac GTPase binding|Rac guanyl-nucleotide exchange factor activity|zinc ion binding	g.chr1:155931685C>T	AB014551	CCDS1125.1, CCDS53375.1, CCDS53376.1	1q21-q22	2013-01-10	2009-06-12		ENSG00000116584	ENSG00000116584		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	682	protein-coding gene	gene with protein product		607560	"rho/rac guanine nucleotide exchange factor (GEF) 2"			9857026, 9734811	Standard	NM_004723		Approved	LFP40, GEF-H1, KIAA0651, P40	uc001fmt.2	Q92974	OTTHUMG00000017464	ENST00000361247.4:c.1235G>A	1.37:g.155931685C>T	ENSP00000354837:p.Arg412His					ARHGEF2_ENST00000361247.4_Missense_Mutation_p.R412H|ARHGEF2_ENST00000368315.3_Missense_Mutation_p.R413H|ARHGEF2_ENST00000313667.4_Missense_Mutation_p.R411H|ARHGEF2_ENST00000313695.7_Missense_Mutation_p.R384H	p.R384H			Q92974	ARHG2_HUMAN			15	1621	-	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		412			DH.		D3DVA6|O75142|Q15079|Q5VY92|Q8TDA3|Q8WUG4|Q9H023	Missense_Mutation	SNP	ENST00000361247.4	37	c.1151G>A	CCDS53376.1	.	.	.	.	.	.	.	.	.	.	C	0.013	-1.624053	0.00820	.	.	ENSG00000116584	ENST00000313695;ENST00000361247;ENST00000368315;ENST00000368316;ENST00000435736;ENST00000543433;ENST00000313667	T;T;T;T;T	0.68331	-0.32;-0.32;-0.32;-0.32;-0.32	4.86	-0.245	0.13027	Dbl homology (DH) domain (5);	0.754197	0.11732	N	0.534835	T	0.08537	0.0212	N	0.00648	-1.295	0.09310	N	1	B;B;B;B	0.06786	0.001;0.0;0.0;0.0	B;B;B;B	0.06405	0.001;0.0;0.002;0.0	T	0.44513	-0.9323	10	0.02654	T	1	-7.3338	7.8921	0.29684	0.0:0.4414:0.0:0.5586	.	457;456;412;411	B7Z977;D3DVA5;Q92974;Q92974-2	.;.;ARHG2_HUMAN;.	H	384;412;413;384;457;385;411	ENSP00000315325:R384H;ENSP00000354837:R412H;ENSP00000357298:R413H;ENSP00000357299:R384H;ENSP00000314787:R411H	ENSP00000314787:R411H	R	-	2	0	ARHGEF2	154198309	0.000000	0.05858	0.525000	0.27900	0.225000	0.24961	-0.574000	0.05868	0.065000	0.16485	-0.218000	0.12543	CGC		0.582	ARHGEF2-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000046204.2	NM_004723		17	42	0	0	0	1	0	17	42					T	155931685	C	T	155931685	3	4	435	1	0	0	0	0	1	0	0	0	903	768	27	1	1773	1	ARHGEF2	1	155931685	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	19322	155931685	93318936	612	21537											
ARHGEF2	9181	broad.mit.edu	37	chr1	155935172	155935172	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggactgtgagaggatccggcGcagccccaggggagactcat	9	5	16	11	2	1	2	1	1	0	2	2	6	2	4	3	5	1	1	3	5	0	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:155935172G>A	ENST00000361247.4	-	6	601	c.502C>T	c.(502-504)Cgc>Tgc	p.R168C	ARHGEF2_ENST00000462460.2_Missense_Mutation_p.R213C|ARHGEF2_ENST00000477754.2_Intron|ARHGEF2_ENST00000368315.4_Missense_Mutation_p.R169C|ARHGEF2_ENST00000313695.7_Missense_Mutation_p.R141C|ARHGEF2_ENST00000368316.1_Missense_Mutation_p.R141C|ARHGEF2_ENST00000313667.4_Missense_Mutation_p.R168C	NM_001162383.1|NM_001162384.1	NP_001155855.1|NP_001155856.1	Q92974	ARHG2_HUMAN	Rho/Rac guanine nucleotide exchange factor (GEF) 2	168					actin filament organization (GO:0007015)|apoptotic signaling pathway (GO:0097190)|cell morphogenesis (GO:0000902)|cellular hyperosmotic response (GO:0071474)|cellular response to muramyl dipeptide (GO:0071225)|cellular response to tumor necrosis factor (GO:0071356)|establishment of mitotic spindle orientation (GO:0000132)|innate immune response (GO:0045087)|intracellular protein transport (GO:0006886)|mitotic nuclear division (GO:0007067)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of intrinsic apoptotic signaling pathway in response to osmotic stress (GO:1902219)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of necroptotic process (GO:0060546)|negative regulation of neurogenesis (GO:0050768)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of cell proliferation (GO:0042127)|regulation of Rho protein signal transduction (GO:0035023)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|neuronal cell body (GO:0043025)|protein complex (GO:0043234)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)|vesicle (GO:0031982)	microtubule binding (GO:0008017)|Rac GTPase binding (GO:0048365)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|Rho GTPase binding (GO:0017048)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			breast(4)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|skin(2)	40	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)					AGGATCCGGCGCAGCCCCAGG	0.582																																					Melanoma(178;35 2768 6610 28839)	ENST00000368316.1																			0				breast(4)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|skin(2)	40						c.(421-423)Cgc>Tgc		Rho/Rac guanine nucleotide exchange factor (GEF) 2							61	62	61					1																	155935172		2203	4300	6503	SO:0001583	missense	9181				actin filament organization|apoptosis|cell division|cell morphogenesis|induction of apoptosis by extracellular signals|intracellular protein transport|mitosis|negative regulation of microtubule depolymerization|nerve growth factor receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|regulation of cell proliferation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|Golgi apparatus|microtubule|ruffle membrane|spindle|tight junction	microtubule binding|Rac GTPase binding|Rac guanyl-nucleotide exchange factor activity|zinc ion binding	g.chr1:155935172G>A	AB014551	CCDS1125.1, CCDS53375.1, CCDS53376.1	1q21-q22	2013-01-10	2009-06-12		ENSG00000116584	ENSG00000116584		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	682	protein-coding gene	gene with protein product		607560	"rho/rac guanine nucleotide exchange factor (GEF) 2"			9857026, 9734811	Standard	NM_004723		Approved	LFP40, GEF-H1, KIAA0651, P40	uc001fmt.2	Q92974	OTTHUMG00000017464	ENST00000361247.4:c.502C>T	1.37:g.155935172G>A	ENSP00000354837:p.Arg168Cys					ARHGEF2_ENST00000361247.4_Missense_Mutation_p.R168C|ARHGEF2_ENST00000368315.3_Missense_Mutation_p.R169C|ARHGEF2_ENST00000313667.4_Missense_Mutation_p.R168C|ARHGEF2_ENST00000313695.7_Missense_Mutation_p.R141C	p.R141C			Q92974	ARHG2_HUMAN			10	891	-	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		168					D3DVA6|O75142|Q15079|Q5VY92|Q8TDA3|Q8WUG4|Q9H023	Missense_Mutation	SNP	ENST00000361247.4	37	c.421C>T	CCDS53376.1	.	.	.	.	.	.	.	.	.	.	G	16.33	3.092087	0.55968	.	.	ENSG00000116584	ENST00000313695;ENST00000361247;ENST00000368315;ENST00000368316;ENST00000435736;ENST00000543433;ENST00000313667	T;T;T;T;T	0.64260	-0.08;0.03;0.03;-0.08;-0.09	5.63	5.63	0.86233	.	0.000000	0.48286	D	0.000189	T	0.65502	0.2697	L	0.39633	1.23	0.53688	D	0.999977	B;P;D;P	0.89917	0.217;0.522;1.0;0.525	B;B;D;B	0.72982	0.019;0.056;0.979;0.119	T	0.62300	-0.6883	10	0.35671	T	0.21	-21.9458	17.1762	0.86842	0.0:0.0:1.0:0.0	.	213;213;168;168	B7Z977;D3DVA5;Q92974;Q92974-2	.;.;ARHG2_HUMAN;.	C	141;168;169;141;213;141;168	ENSP00000315325:R141C;ENSP00000354837:R168C;ENSP00000357298:R169C;ENSP00000357299:R141C;ENSP00000314787:R168C	ENSP00000314787:R168C	R	-	1	0	ARHGEF2	154201796	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.206000	0.58473	2.665000	0.90641	0.655000	0.94253	CGC		0.582	ARHGEF2-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000046204.2	NM_004723		12	18	0	0	0	1	0	12	18					A	155935172	G	A	155935172	3	1	435	1	0	0	0	0	1	0	0	0	903	1087	38	1	2526	1	ARHGEF2	1	155935172	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	3487	155935172	93315449	613	21538											
RAB25	57111	broad.mit.edu	37	chr1	156038134	156038134	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agacctatgctgtggtggagCgatggctgaaggagctctat	9	10	15	7	1	1	2	0	1	1	1	1	5	1	4	1	4	3	3	1	4	3	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:156038134C>T	ENST00000361084.5	+	3	554	c.313C>T	c.(313-315)Cga>Tga	p.R105*	RAB25_ENST00000487325.1_3'UTR	NM_020387.2	NP_065120.2	P57735	RAB25_HUMAN	RAB25, member RAS oncogene family	105					positive regulation of cell proliferation (GO:0008284)|protein transport (GO:0015031)|pseudopodium organization (GO:0031268)|small GTPase mediated signal transduction (GO:0007264)	cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|pseudopodium (GO:0031143)	GTP binding (GO:0005525)|myosin V binding (GO:0031489)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)	5	Hepatocellular(266;0.158)|all_neural(408;0.195)					TGTGGTGGAGCGATGGCTGAA	0.572																																						ENST00000361084.5																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)	5						c.(313-315)Cga>Tga		RAB25, member RAS oncogene family							106	107	107					1																	156038134		2152	4270	6422	SO:0001587	stop_gained	57111				positive regulation of cell proliferation|protein transport|pseudopodium organization|small GTPase mediated signal transduction	cytoplasmic membrane-bounded vesicle|pseudopodium membrane	GTP binding|identical protein binding	g.chr1:156038134C>T	AF083124	CCDS41413.1	1q22	2008-07-03			ENSG00000132698	ENSG00000132698		"RAB, member RAS oncogene"	18238	protein-coding gene	gene with protein product		612942				11697911	Standard	NM_020387		Approved	CATX-8	uc001fnc.3	P57735	OTTHUMG00000017457	ENST00000361084.5:c.313C>T	1.37:g.156038134C>T	ENSP00000354376:p.Arg105*					RAB25_ENST00000487325.1_3'UTR	p.R105*	NM_020387.2	NP_065120.2	P57735	RAB25_HUMAN			3	554	+	Hepatocellular(266;0.158)|all_neural(408;0.195)		105					Q5VYA2|Q8NG24|Q96GB1|Q9BT12	Nonsense_Mutation	SNP	ENST00000361084.5	37	c.313C>T	CCDS41413.1	.	.	.	.	.	.	.	.	.	.	C	39	7.512545	0.98329	.	.	ENSG00000132698	ENST00000361084	.	.	.	5.23	5.23	0.72850	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	17.5464	0.87863	0.0:1.0:0.0:0.0	.	.	.	.	X	105	.	ENSP00000354376:R105X	R	+	1	2	RAB25	154304758	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	5.723000	0.68492	2.721000	0.93114	0.655000	0.94253	CGA		0.572	RAB25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046185.1			33	48	0	0	0	1	0	33	48					T	156038134	C	T	156038134	4	4	435	1	0	0	0	0	0	1	0	0	12912	760	27	1	323	1	RAB25	1	156038134	Nonsense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	102962	156038134	93212487	614	21539											
MEX3A	92312	broad.mit.edu	37	chr1	156046389	156046389	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gagaatattcggatggcttgCgtggctgtgatgtggcagac	8	11	16	6	2	0	3	0	1	0	2	1	5	0	4	0	4	1	3	0	4	2	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:156046389C>T	ENST00000532414.2	-	2	1538	c.1539G>A	c.(1537-1539)acG>acA	p.T513T	AL355388.1_ENST00000410679.1_RNA|MEX3A_ENST00000442784.1_5'Flank	NM_001093725.1	NP_001087194.1	A1L020	MEX3A_HUMAN	mex-3 RNA binding family member A	513						cytoplasm (GO:0005737)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(3)|lung(3)	9	Hepatocellular(266;0.158)|all_neural(408;0.195)					GGATGGCTTGCGTGGCTGTGA	0.602																																						ENST00000532414.2																			0				endometrium(2)|kidney(1)|large_intestine(3)|lung(3)	9						c.(1537-1539)acG>acA		mex-3 RNA binding family member A							54	64	61					1																	156046389		2178	4284	6462	SO:0001819	synonymous_variant	92312					cytoplasmic mRNA processing body|nucleus	RNA binding|zinc ion binding	g.chr1:156046389C>T	AK024097	CCDS53377.1	1q22	2013-09-24	2013-08-21	2007-07-18	ENSG00000254726	ENSG00000254726		"RING-type (C3HC4) zinc fingers", "Mex-3 homologs"	33482	protein-coding gene	gene with protein product		611007	"ring finger and KH domain containing 4", "mex-3 homolog A (C. elegans)"	RKHD4		17267406	Standard	NM_001093725		Approved		uc001fnd.4	A1L020	OTTHUMG00000017465	ENST00000532414.2:c.1539G>A	1.37:g.156046389C>T							p.T513T	NM_001093725.1	NP_001087194.1	A1L020	MEX3A_HUMAN			2	1538	-	Hepatocellular(266;0.158)|all_neural(408;0.195)		513						Silent	SNP	ENST00000532414.2	37	c.1539G>A	CCDS53377.1																																																																																				0.602	MEX3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046218.3	NM_001093725		12	23	0	0	0	1	0	12	23					T	156046389	C	T	156046389	2	4	435	1	0	0	0	0	0	0	0	1	9509	755	27	1		1	MEX3A	1	156046389	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	8255	156046389	93204232	615	21540											
LMNA	4000	broad.mit.edu	37	chr1	156100518	156100518	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cactgctctcagtgagaagcGcacgctggagggcgagctgc	8	6	15	12	3	1	1	1	1	1	1	2	4	1	2	0	2	4	4	0	2	1	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:156100518G>A	ENST00000368300.4	+	2	679	c.467G>A	c.(466-468)cGc>cAc	p.R156H	LMNA_ENST00000347559.2_Missense_Mutation_p.R156H|LMNA_ENST00000473598.2_Missense_Mutation_p.R57H|LMNA_ENST00000368301.2_Missense_Mutation_p.R156H|LMNA_ENST00000368299.3_Missense_Mutation_p.R156H|LMNA_ENST00000361308.4_Missense_Mutation_p.R156H|LMNA_ENST00000392353.3_Missense_Mutation_p.R75H|LMNA_ENST00000448611.2_Missense_Mutation_p.R44H|LMNA_ENST00000368297.1_Missense_Mutation_p.R75H	NM_170707.3	NP_733821.1	P02545	LMNA_HUMAN	lamin A/C	156	Coil 1B.|Rod.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular protein metabolic process (GO:0044267)|cellular response to hypoxia (GO:0071456)|endoplasmic reticulum unfolded protein response (GO:0030968)|establishment or maintenance of microtubule cytoskeleton polarity (GO:0030951)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mitotic nuclear envelope reassembly (GO:0007084)|muscle organ development (GO:0007517)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|positive regulation of cell aging (GO:0090343)|protein localization to nucleus (GO:0034504)|regulation of cell migration (GO:0030334)|regulation of protein localization to nucleus (GO:1900180)|sterol regulatory element binding protein import into nucleus (GO:0035105)|ventricular cardiac muscle cell development (GO:0055015)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intermediate filament (GO:0005882)|lamin filament (GO:0005638)|nuclear envelope (GO:0005635)|nuclear lamina (GO:0005652)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	structural molecule activity (GO:0005198)			NS(1)|endometrium(1)|kidney(1)|lung(3)|ovary(4)	10	Hepatocellular(266;0.158)					AGTGAGAAGCGCACGCTGGAG	0.632									Werner syndrome;Hutchinson-Gilford Progeria Syndrome		OREG0013866	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000368300.4																			0				NS(1)|endometrium(1)|kidney(1)|lung(3)|ovary(4)	10						c.(466-468)cGc>cAc		lamin A/C							24	22	23					1																	156100518		2203	4300	6503	SO:0001583	missense	4000	Werner syndrome;Hutchinson-Gilford Progeria Syndrome	Familial Cancer Database	WS, Adult Progeria;HGPS, Progeria	cellular component disassembly involved in apoptosis|cellular response to hypoxia|establishment or maintenance of microtubule cytoskeleton polarity|muscle organ development|positive regulation of cell aging|regulation of apoptosis|regulation of cell migration	cytoplasm|lamin filament|nuclear envelope|perinuclear region of cytoplasm	protein binding|structural molecule activity	g.chr1:156100518G>A	BC014507	CCDS1129.1, CCDS1131.1, CCDS58038.1, CCDS72941.1, CCDS72942.1	1q22	2014-09-17			ENSG00000160789	ENSG00000160789		"Intermediate filaments type V, lamins"	6636	protein-coding gene	gene with protein product		150330	"cardiomyopathy, dilated 1A (autosomal dominant)", "limb girdle muscular dystrophy 1B (autosomal dominant)", "progeria 1 (Hutchinson-Gilford type)", "lamin A/C-like 1"	LMN1, CMD1A, LGMD1B, PRO1, LMNL1		8511676, 8838815, 12702809	Standard	NM_005572		Approved	HGPS	uc001fni.3	P02545	OTTHUMG00000013961	ENST00000368300.4:c.467G>A	1.37:g.156100518G>A	ENSP00000357283:p.Arg156His		OREG0013866	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1775	LMNA_ENST00000392353.3_Missense_Mutation_p.R75H|LMNA_ENST00000368297.1_Missense_Mutation_p.R75H|LMNA_ENST00000368299.3_Missense_Mutation_p.R156H|LMNA_ENST00000448611.2_Missense_Mutation_p.R44H|LMNA_ENST00000361308.4_Missense_Mutation_p.R156H|LMNA_ENST00000368301.2_Missense_Mutation_p.R156H|LMNA_ENST00000347559.2_Missense_Mutation_p.R156H|LMNA_ENST00000473598.2_Missense_Mutation_p.R57H	p.R156H	NM_170707.3	NP_733821.1	P02545	LMNA_HUMAN			2	679	+	Hepatocellular(266;0.158)		156			Coil 1B.|Rod.		B4DI32|D3DVB0|D6RAQ3|E7EUI9|P02546|Q5I6Y4|Q5I6Y6|Q5TCJ2|Q5TCJ3|Q6UYC3|Q969I8|Q96JA2	Missense_Mutation	SNP	ENST00000368300.4	37	c.467G>A	CCDS1129.1	.	.	.	.	.	.	.	.	.	.	G	23.4	4.416758	0.83449	.	.	ENSG00000160789	ENST00000368301;ENST00000347559;ENST00000361308;ENST00000368300;ENST00000368299;ENST00000292302;ENST00000392355;ENST00000448611;ENST00000368297;ENST00000504687;ENST00000473598;ENST00000392353	D;D;D;D;D;D;D;D;D;D	0.86230	-2.09;-1.69;-2.09;-2.09;-2.09;-1.69;-1.69;-1.69;-1.69;-1.69	5.59	5.59	0.84812	Filament (1);	0.000000	0.53938	D	0.000043	D	0.92260	0.7545	M	0.76574	2.34	0.58432	D	0.999998	P;D;P;D;D;P;D	0.89917	0.607;0.997;0.877;1.0;0.994;0.738;0.999	B;D;P;D;D;B;D	0.77557	0.362;0.96;0.581;0.99;0.96;0.19;0.955	D	0.92608	0.6097	10	0.66056	D	0.02	.	17.0835	0.86604	0.0:0.0:1.0:0.0	.	44;156;57;75;156;156;156	E7EUI9;Q6UYC3;D6RAQ3;Q5TCI8;P02545;P02545-3;P02545-2	.;.;.;.;LMNA_HUMAN;.;.	H	156;156;156;156;156;156;156;44;75;73;57;75	ENSP00000357284:R156H;ENSP00000292304:R156H;ENSP00000355292:R156H;ENSP00000357283:R156H;ENSP00000357282:R156H;ENSP00000395597:R44H;ENSP00000357280:R75H;ENSP00000426535:R73H;ENSP00000421821:R57H;ENSP00000376164:R75H	ENSP00000292302:R156H	R	+	2	0	LMNA	154367142	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	6.757000	0.74924	2.635000	0.89317	0.655000	0.94253	CGC		0.632	LMNA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039200.2	NM_170707		9	8	0	0	0	1	0	9	8					A	156100518	G	A	156100518	3	1	435	1	0	0	0	0	1	0	0	0	8848	1087	38	1	473	1	LMNA	1	156100518	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	54129	156100518	93150103	616	21541											
LMNA	4000	broad.mit.edu	37	chr1	156106169	156106169	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	acgcactagcgggcgcgtggCcgtggaggaggtggatgagg	7	5	21	8	5	0	1	0	1	0	0	0	4	0	4	1	7	1	1	1	7	1	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:156106169C>T	ENST00000368300.4	+	7	1534	c.1322C>T	c.(1321-1323)gCc>gTc	p.A441V	LMNA_ENST00000347559.2_Missense_Mutation_p.A441V|LMNA_ENST00000473598.2_Missense_Mutation_p.A342V|LMNA_ENST00000368301.2_Missense_Mutation_p.A441V|LMNA_ENST00000368299.3_Missense_Mutation_p.A441V|LMNA_ENST00000496738.1_3'UTR|LMNA_ENST00000361308.4_Missense_Mutation_p.A441V|LMNA_ENST00000392353.3_Missense_Mutation_p.A360V|LMNA_ENST00000448611.2_Missense_Mutation_p.A329V|LMNA_ENST00000368297.1_Missense_Mutation_p.A360V	NM_170707.3	NP_733821.1	P02545	LMNA_HUMAN	lamin A/C	441	LTD.|Tail.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular protein metabolic process (GO:0044267)|cellular response to hypoxia (GO:0071456)|endoplasmic reticulum unfolded protein response (GO:0030968)|establishment or maintenance of microtubule cytoskeleton polarity (GO:0030951)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mitotic nuclear envelope reassembly (GO:0007084)|muscle organ development (GO:0007517)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|positive regulation of cell aging (GO:0090343)|protein localization to nucleus (GO:0034504)|regulation of cell migration (GO:0030334)|regulation of protein localization to nucleus (GO:1900180)|sterol regulatory element binding protein import into nucleus (GO:0035105)|ventricular cardiac muscle cell development (GO:0055015)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intermediate filament (GO:0005882)|lamin filament (GO:0005638)|nuclear envelope (GO:0005635)|nuclear lamina (GO:0005652)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	structural molecule activity (GO:0005198)			NS(1)|endometrium(1)|kidney(1)|lung(3)|ovary(4)	10	Hepatocellular(266;0.158)					GGGCGCGTGGCCGTGGAGGAG	0.612									Werner syndrome;Hutchinson-Gilford Progeria Syndrome																													ENST00000368300.4																			0				NS(1)|endometrium(1)|kidney(1)|lung(3)|ovary(4)	10						c.(1321-1323)gCc>gTc		lamin A/C							43	47	46					1																	156106169		2203	4299	6502	SO:0001583	missense	4000	Werner syndrome;Hutchinson-Gilford Progeria Syndrome	Familial Cancer Database	WS, Adult Progeria;HGPS, Progeria	cellular component disassembly involved in apoptosis|cellular response to hypoxia|establishment or maintenance of microtubule cytoskeleton polarity|muscle organ development|positive regulation of cell aging|regulation of apoptosis|regulation of cell migration	cytoplasm|lamin filament|nuclear envelope|perinuclear region of cytoplasm	protein binding|structural molecule activity	g.chr1:156106169C>T	BC014507	CCDS1129.1, CCDS1131.1, CCDS58038.1, CCDS72941.1, CCDS72942.1	1q22	2014-09-17			ENSG00000160789	ENSG00000160789		"Intermediate filaments type V, lamins"	6636	protein-coding gene	gene with protein product		150330	"cardiomyopathy, dilated 1A (autosomal dominant)", "limb girdle muscular dystrophy 1B (autosomal dominant)", "progeria 1 (Hutchinson-Gilford type)", "lamin A/C-like 1"	LMN1, CMD1A, LGMD1B, PRO1, LMNL1		8511676, 8838815, 12702809	Standard	NM_005572		Approved	HGPS	uc001fni.3	P02545	OTTHUMG00000013961	ENST00000368300.4:c.1322C>T	1.37:g.156106169C>T	ENSP00000357283:p.Ala441Val					LMNA_ENST00000392353.3_Missense_Mutation_p.A360V|LMNA_ENST00000368297.1_Missense_Mutation_p.A360V|LMNA_ENST00000368299.3_Missense_Mutation_p.A441V|LMNA_ENST00000448611.2_Missense_Mutation_p.A329V|LMNA_ENST00000496738.1_3'UTR|LMNA_ENST00000361308.4_Missense_Mutation_p.A441V|LMNA_ENST00000368301.2_Missense_Mutation_p.A441V|LMNA_ENST00000347559.2_Missense_Mutation_p.A441V|LMNA_ENST00000473598.2_Missense_Mutation_p.A342V	p.A441V	NM_170707.3	NP_733821.1	P02545	LMNA_HUMAN			7	1534	+	Hepatocellular(266;0.158)		441			Tail.		B4DI32|D3DVB0|D6RAQ3|E7EUI9|P02546|Q5I6Y4|Q5I6Y6|Q5TCJ2|Q5TCJ3|Q6UYC3|Q969I8|Q96JA2	Missense_Mutation	SNP	ENST00000368300.4	37	c.1322C>T	CCDS1129.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.021698	0.75275	.	.	ENSG00000160789	ENST00000368301;ENST00000347559;ENST00000361308;ENST00000368300;ENST00000368299;ENST00000292302;ENST00000448611;ENST00000368297;ENST00000473598;ENST00000392353;ENST00000508500	D;D;D;D;D;D;D;D;D;D	0.98234	-4.81;-4.81;-4.81;-4.81;-4.81;-4.81;-4.81;-4.81;-4.81;-4.81	5.74	5.74	0.90152	Intermediate filament, C-terminal (1);	0.107907	0.40302	N	0.001137	D	0.94899	0.8351	N	0.17082	0.46	0.45464	D	0.998438	D;P;P;P;D;D;P;D	0.58620	0.964;0.926;0.938;0.918;0.983;0.968;0.915;0.957	B;B;P;B;P;B;B;B	0.45681	0.254;0.254;0.49;0.254;0.456;0.389;0.231;0.357	D	0.95849	0.8873	10	0.66056	D	0.02	.	17.4233	0.87520	0.0:1.0:0.0:0.0	.	97;329;441;342;360;441;441;441	B4DFR3;E7EUI9;Q6UYC3;D6RAQ3;Q5TCI8;P02545;P02545-3;P02545-2	.;.;.;.;.;LMNA_HUMAN;.;.	V	441;441;441;441;441;441;329;360;342;360;67	ENSP00000357284:A441V;ENSP00000292304:A441V;ENSP00000355292:A441V;ENSP00000357283:A441V;ENSP00000357282:A441V;ENSP00000395597:A329V;ENSP00000357280:A360V;ENSP00000421821:A342V;ENSP00000376164:A360V;ENSP00000424977:A67V	ENSP00000292302:A441V	A	+	2	0	LMNA	154372793	1.000000	0.71417	0.979000	0.43373	0.898000	0.52572	4.109000	0.57824	2.695000	0.91970	0.655000	0.94253	GCC		0.612	LMNA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039200.2	NM_170707		5	6	0	0	0	1	0	5	6					T	156106169	C	T	156106169	3	4	435	1	0	0	0	0	1	0	0	0	8848	739	26	3	1348	3	LMNA	1	156106169	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	5651	156106169	93144452	617	21542											
SLC25A44	9673	broad.mit.edu	37	chr1	156180190	156180190	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctcaagaaactcagcctcCgacctgagctggtggactcg	9	7	11	14	2	2	2	2	1	0	1	4	4	3	3	4	2	3	1	4	2	2	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:156180190C>T	ENST00000359511.4	+	4	1085	c.913C>T	c.(913-915)Cga>Tga	p.R305*	PMF1-BGLAP_ENST00000368276.4_5'Flank|PMF1_ENST00000368277.3_5'Flank|PMF1_ENST00000565805.1_5'Flank|PMF1_ENST00000368273.4_5'Flank|PMF1-BGLAP_ENST00000320139.5_5'Flank|PMF1_ENST00000368279.3_5'Flank|PMF1_ENST00000567140.1_5'Flank|SLC25A44_ENST00000469537.1_3'UTR|SLC25A44_ENST00000423538.2_Nonsense_Mutation_p.R282*|PMF1-BGLAP_ENST00000490491.1_5'Flank	NM_014655.2	NP_055470.1	Q96H78	S2544_HUMAN	solute carrier family 25, member 44	305					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)		p.R305*(1)		breast(3)|kidney(2)|large_intestine(2)|lung(1)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	Hepatocellular(266;0.158)					ACTCAGCCTCCGACCTGAGCT	0.572																																						ENST00000359511.4																			1	Substitution - Nonsense(1)	p.R305*(1)	upper_aerodigestive_tract(1)	breast(3)|kidney(2)|large_intestine(2)|lung(1)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						c.(913-915)Cga>Tga		solute carrier family 25, member 44							77	69	72					1																	156180190		2203	4300	6503	SO:0001587	stop_gained	9673				transmembrane transport	integral to membrane|mitochondrial inner membrane	binding	g.chr1:156180190C>T	AB007915	CCDS1133.1, CCDS72943.1	1q22	2013-05-22			ENSG00000160785	ENSG00000160785		"Solute carriers"	29036	protein-coding gene	gene with protein product		610824				16949250	Standard	NM_001286184		Approved	FLJ90431, KIAA0446	uc001fnp.3	Q96H78	OTTHUMG00000014816	ENST00000359511.4:c.913C>T	1.37:g.156180190C>T	ENSP00000352497:p.Arg305*					SLC25A44_ENST00000423538.2_Nonsense_Mutation_p.R282*|SLC25A44_ENST00000469537.1_3'UTR	p.R305*	NM_014655.2	NP_055470.1	Q96H78	S2544_HUMAN			4	1085	+	Hepatocellular(266;0.158)		305					O75034	Nonsense_Mutation	SNP	ENST00000359511.4	37	c.913C>T	CCDS1133.1	.	.	.	.	.	.	.	.	.	.	C	33	5.200533	0.94997	.	.	ENSG00000160785	ENST00000359511;ENST00000423538;ENST00000412949	.	.	.	4.86	3.94	0.45596	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.06757	T	0.87	-4.2721	10.2026	0.43094	0.3619:0.6381:0.0:0.0	.	.	.	.	X	305;282;153	.	ENSP00000352497:R305X	R	+	1	2	SLC25A44	154446814	0.667000	0.27484	0.880000	0.34516	0.997000	0.91878	1.236000	0.32683	1.242000	0.43836	0.655000	0.94253	CGA		0.572	SLC25A44-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040856.1	NM_014655		9	22	0	0	0	1	0	9	22					T	156180190	C	T	156180190	4	4	435	1	0	0	0	0	0	1	0	0	14509	644	23	2	923	2	SLC25A44	1	156180190	Nonsense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	74021	156180190	93070431	618	21543											
PMF1	11243	broad.mit.edu	37	chr1	156206122	156206122	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	aggatctgcacagtgttatgGcaccctacttcctgcagcaa	10	10	9	12	0	1	0	0	0	1	0	2	1	2	1	2	2	4	5	2	2	3	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:156206122G>T	ENST00000368273.4	+	4	428	c.418G>T	c.(418-420)Gca>Tca	p.A140S	PMF1-BGLAP_ENST00000368276.4_Intron|PMF1_ENST00000368277.3_Missense_Mutation_p.A138S|PMF1_ENST00000565805.1_Intron|PMF1-BGLAP_ENST00000320139.5_Intron|PMF1_ENST00000368279.3_Intron|PMF1_ENST00000567140.1_Intron|PMF1-BGLAP_ENST00000490491.1_Missense_Mutation_p.A138S	NM_001199654.1	NP_001186583.1			polyamine-modulated factor 1									p.A138S(1)		kidney(1)|large_intestine(2)|lung(3)	6	Hepatocellular(266;0.158)					CAGTGTTATGGCACCCTACTT	0.637																																					Pancreas(32;764 914 7316 34504 37150)|Ovarian(64;846 1195 21996 34382 40415)	ENST00000368277.3																			1	Substitution - Missense(1)	p.A138S(1)	large_intestine(1)	kidney(1)|large_intestine(2)|lung(3)	6						c.(412-414)Gca>Tca		polyamine-modulated factor 1							84	84	84					1																	156206122		2203	4300	6503	SO:0001583	missense	11243							g.chr1:156206122G>T	AF141310	CCDS30886.1, CCDS55648.1, CCDS55649.1	1q22	2013-07-03			ENSG00000160783	ENSG00000160783			9112	protein-coding gene	gene with protein product		609176				10419538	Standard	NM_007221		Approved			Q6P1K2	OTTHUMG00000177123	ENST00000368273.4:c.418G>T	1.37:g.156206122G>T	ENSP00000357256:p.Ala140Ser					PMF1_ENST00000368273.4_Missense_Mutation_p.A140S|PMF1-BGLAP_ENST00000320139.5_Intron|PMF1_ENST00000368279.3_Intron|PMF1-BGLAP_ENST00000490491.1_Missense_Mutation_p.A138S|PMF1-BGLAP_ENST00000368276.4_Intron|PMF1_ENST00000567140.1_Intron|PMF1_ENST00000565805.1_Intron	p.A138S	NM_007221.3	NP_009152.2					4	421	+	Hepatocellular(266;0.158)								Missense_Mutation	SNP	ENST00000368273.4	37	c.412G>T	CCDS55648.1	.	.	.	.	.	.	.	.	.	.	G	15.18	2.757994	0.49468	.	.	ENSG00000160783	ENST00000368273;ENST00000368277	T;T	0.28895	1.59;1.59	5.81	3.53	0.40419	.	.	.	.	.	T	0.15435	0.0372	L	0.36672	1.1	0.80722	D	1	P	0.36354	0.549	B	0.40199	0.322	T	0.04467	-1.0949	9	0.59425	D	0.04	.	10.9117	0.47112	0.083:0.1649:0.7522:0.0	.	138	Q6P1K2	PMF1_HUMAN	S	140;138	ENSP00000357256:A140S;ENSP00000357260:A138S	ENSP00000357256:A140S	A	+	1	0	PMF1	154472746	0.987000	0.35691	0.854000	0.33618	0.560000	0.35617	1.107000	0.31110	1.365000	0.46057	0.650000	0.86243	GCA		0.637	PMF1-005	KNOWN	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000040864.2	NM_007221		7	73	1	0	2.0095e-06	1	2.09073e-06	7	73					T	156206122	G	T	156206122	3	4	435	1	0	0	0	0	1	0	0	0	12133	1203	42	5	426	5	PMF1	1	156206122	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	25932	156206122	93044499	619	21544											
SMG5	23381	broad.mit.edu	37	chr1	156247016	156247016	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgtaggcacattccaaagtgCtccggctgtggatgtgctac	8	11	12	10	1	0	0	0	0	0	0	2	1	2	1	2	3	3	5	2	3	3	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:156247016C>A	ENST00000361813.5	-	4	458	c.314G>T	c.(313-315)aGc>aTc	p.S105I	SMG5_ENST00000368267.5_Missense_Mutation_p.S105I	NM_015327.2	NP_056142.2	Q9UPR3	SMG5_HUMAN	SMG5 nonsense mediated mRNA decay factor	105					gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of dephosphorylation (GO:0035303)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	protein phosphatase 2A binding (GO:0051721)			NS(1)|breast(3)|endometrium(8)|kidney(2)|large_intestine(7)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	48	Hepatocellular(266;0.158)					TTCCAAAGTGCTCCGGCTGTG	0.522																																						ENST00000361813.5																			0				NS(1)|breast(3)|endometrium(8)|kidney(2)|large_intestine(7)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	48						c.(313-315)aGc>aTc		SMG5 nonsense mediated mRNA decay factor							64	55	58					1																	156247016		2203	4300	6503	SO:0001583	missense	23381				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation	cytoplasm|nucleus	protein phosphatase 2A binding	g.chr1:156247016C>A	AB029012	CCDS1137.1	1q21	2013-07-02	2013-07-02		ENSG00000198952	ENSG00000198952			24644	protein-coding gene	gene with protein product	"EST1 telomerase component homolog B (S. cerevisiae)"	610962	"smg-5 homolog, nonsense mediated mRNA decay factor (C. elegans)"			12676087, 12699629	Standard	NM_015327		Approved	KIAA1089, LPTS-RP1, LPTSRP1, RP11-54H19.7, SMG-5, EST1B	uc001foc.4	Q9UPR3	OTTHUMG00000017491	ENST00000361813.5:c.314G>T	1.37:g.156247016C>A	ENSP00000355261:p.Ser105Ile					SMG5_ENST00000368267.4_Missense_Mutation_p.S105I	p.S105I	NM_015327.2	NP_056142.2	Q9UPR3	SMG5_HUMAN			4	458	-	Hepatocellular(266;0.158)		105					D3DVB7|Q5QJE7|Q659C7|Q8IXC0|Q8IY09|Q96IJ7	Missense_Mutation	SNP	ENST00000361813.5	37	c.314G>T	CCDS1137.1	.	.	.	.	.	.	.	.	.	.	C	28.4	4.916478	0.92249	.	.	ENSG00000198952	ENST00000361813;ENST00000368267	T;T	0.17691	2.26;2.26	5.92	5.92	0.95590	Telomerase activating protein Est1 (1);	0.000000	0.85682	D	0.000000	T	0.19287	0.0463	L	0.43152	1.355	0.80722	D	1	P	0.39737	0.685	P	0.48901	0.594	T	0.00359	-1.1791	10	0.66056	D	0.02	-7.4881	18.8866	0.92381	0.0:1.0:0.0:0.0	.	105	Q9UPR3	SMG5_HUMAN	I	105	ENSP00000355261:S105I;ENSP00000357250:S105I	ENSP00000355261:S105I	S	-	2	0	SMG5	154513640	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	7.594000	0.82698	2.797000	0.96272	0.555000	0.69702	AGC		0.522	SMG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046308.1	NM_015327		6	10	1	0	0.00116845	1	0.0011864	6	10					A	156247016	C	A	156247016	3	1	435	1	0	0	0	0	1	0	0	0	14796	797	28	5	2812	5	SMG5	1	156247016	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	40894	156247016	93003605	620	21545											
CCT3	7203	broad.mit.edu	37	chr1	156279038	156279038	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttgccggctctggtcatcGcctttctttttgtggcctga	2	16	10	13	2	3	1	1	1	2	0	4	1	3	1	4	3	1	1	4	3	0	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:156279038G>A	ENST00000295688.3	-	14	1870	c.1590C>T	c.(1588-1590)ggC>ggT	p.G530G	CCT3_ENST00000368261.3_Silent_p.G485G|CCT3_ENST00000368259.2_Silent_p.G492G|CCT3_ENST00000472765.2_Silent_p.G485G	NM_005998.4	NP_005989.3	P49368	TCPG_HUMAN	chaperonin containing TCP1, subunit 3 (gamma)	530					'de novo' posttranslational protein folding (GO:0051084)|binding of sperm to zona pellucida (GO:0007339)|cellular protein metabolic process (GO:0044267)|protein folding (GO:0006457)	cell body (GO:0044297)|chaperonin-containing T-complex (GO:0005832)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|zona pellucida receptor complex (GO:0002199)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|unfolded protein binding (GO:0051082)			endometrium(4)|large_intestine(1)|liver(1)|lung(11)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	22	Hepatocellular(266;0.158)					TCTGGTCATCGCCTTTCTTTT	0.527																																						ENST00000295688.3																			0				endometrium(4)|large_intestine(1)|liver(1)|lung(11)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	22						c.(1588-1590)ggC>ggT		chaperonin containing TCP1, subunit 3 (gamma)							115	118	117					1																	156279038		2203	4300	6503	SO:0001819	synonymous_variant	7203				'de novo' posttranslational protein folding	cytoskeleton|cytosol|plasma membrane	ATP binding|unfolded protein binding	g.chr1:156279038G>A	BC008019	CCDS1140.2, CCDS30888.1	1q23	2011-09-02			ENSG00000163468	ENSG00000163468		"Heat Shock Proteins / Chaperonins"	1616	protein-coding gene	gene with protein product		600114		TRIC5		8110840	Standard	NM_005998		Approved	Cctg	uc001fol.2	P49368	OTTHUMG00000024061	ENST00000295688.3:c.1590C>T	1.37:g.156279038G>A						CCT3_ENST00000472765.2_Silent_p.G485G|CCT3_ENST00000368261.3_Silent_p.G485G|CCT3_ENST00000368259.2_Silent_p.G492G	p.G530G	NM_005998.4	NP_005989.3	P49368	TCPG_HUMAN			14	1870	-	Hepatocellular(266;0.158)		530					A6NE14|Q5SZY1|Q9BR64	Silent	SNP	ENST00000295688.3	37	c.1590C>T	CCDS1140.2																																																																																				0.527	CCT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060602.3	NM_005998		32	57	0	0	0	1	0	32	57					A	156279038	G	A	156279038	2	1	435	1	0	0	0	0	0	0	0	1	2954	1074	38	1		1	CCT3	1	156279038	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	32022	156279038	92971583	621	21546											
C1orf182	128229	broad.mit.edu	37	chr1	156316633	156316633	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccagcttcagacccagctcGcccaacaacagatggctgtt	10	8	8	15	1	1	2	1	0	0	2	3	2	2	2	3	1	4	4	3	1	2	2	rs202203827		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:156316633G>A	ENST00000368255.3	+	4	598	c.238G>A	c.(238-240)Gcc>Acc	p.A80T	TSACC_ENST00000466306.1_Missense_Mutation_p.R76H|TSACC_ENST00000470342.1_Missense_Mutation_p.R76H|TSACC_ENST00000368253.2_Missense_Mutation_p.A80T|TSACC_ENST00000368254.1_Missense_Mutation_p.A80T|TSACC_ENST00000481479.1_Missense_Mutation_p.R76H|TSACC_ENST00000368252.1_Missense_Mutation_p.A80T|TSACC_ENST00000368251.1_Missense_Mutation_p.A80T	NM_144627.3	NP_653228.1	Q96A04	TSACC_HUMAN	TSSK6 activating co-chaperone	80						cytoplasm (GO:0005737)	chaperone binding (GO:0051087)										GACCCAGCTCGCCCAACAACA	0.507													g|||	1	0.000199681	0	0	5008	,	,		19758	0.001		0	False		,,,				2504	0					ENST00000368255.3																			0											c.(238-240)Gcc>Acc		TSSK6 activating co-chaperone							165	165	165					1																	156316633		2203	4300	6503	SO:0001583	missense	128229							g.chr1:156316633G>A	AY048672	CCDS1141.1	1q22	2012-08-16	2012-08-16	2012-08-16	ENSG00000163467	ENSG00000163467			30636	protein-coding gene	gene with protein product	"SSTK-interacting protein"		"chromosome 1 open reading frame 182"	C1orf182		20829357	Standard	NM_144627		Approved	SSTK-IP, SIP	uc001foo.3	Q96A04	OTTHUMG00000024060	ENST00000368255.3:c.238G>A	1.37:g.156316633G>A	ENSP00000357238:p.Ala80Thr					TSACC_ENST00000481479.1_3'UTR|TSACC_ENST00000368254.1_Missense_Mutation_p.A80T|TSACC_ENST00000368251.1_Missense_Mutation_p.A80T|TSACC_ENST00000368253.1_Missense_Mutation_p.A80T|TSACC_ENST00000368252.1_Missense_Mutation_p.A80T	p.A80T	NM_144627.3	NP_653228.1					4	598	+								D3DVB9	Missense_Mutation	SNP	ENST00000368255.3	37	c.238G>A	CCDS1141.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	g	16.60	3.169648	0.57584	.	.	ENSG00000163467	ENST00000368255;ENST00000368254;ENST00000368253;ENST00000368252;ENST00000368251	T;T;T;T;T	0.58940	0.3;0.3;0.3;0.3;0.3	5.41	3.51	0.40186	.	0.264036	0.27076	N	0.021050	T	0.41419	0.1158	L	0.32530	0.975	0.09310	N	1	D	0.61080	0.989	P	0.53988	0.739	T	0.29458	-1.0011	10	0.87932	D	0	-0.4855	10.2511	0.43370	0.1734:0.0:0.8266:0.0	.	80	Q96A04	CA182_HUMAN	T	80	ENSP00000357238:A80T;ENSP00000357237:A80T;ENSP00000357236:A80T;ENSP00000357235:A80T;ENSP00000357234:A80T	ENSP00000357234:A80T	A	+	1	0	C1orf182	154583257	0.000000	0.05858	0.025000	0.17156	0.778000	0.44026	0.340000	0.19892	0.865000	0.35603	-0.713000	0.03633	GCC		0.507	TSACC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060594.1	NM_144627		73	89	0	0	0	1	0	73	89					A	156316633	G	A	156316633	3	1	435	1	0	0	0	0	1	0	0	0	2018	1087	38	1	248	1	C1orf182	1	156316633	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	37595	156316633	92933988	622	21547											
RHBG	57127	broad.mit.edu	37	chr1	156348053	156348053	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	acctccccaggtgagagatgCcggaggctccatgactatcc	9	7	11	14	1	0	3	0	2	0	1	3	5	3	4	6	3	1	1	6	3	1	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:156348053C>T	ENST00000368249.1	+	4	574	c.536C>T	c.(535-537)gCc>gTc	p.A179V	RHBG_ENST00000368246.2_Missense_Mutation_p.A179V|RHBG_ENST00000537040.1_Intron|RHBG_ENST00000400992.2_Missense_Mutation_p.A147V|RHBG_ENST00000255013.3_Missense_Mutation_p.A110V|RHBG_ENST00000451864.2_Missense_Mutation_p.A147V	NM_001256396.1|NM_020407.4	NP_001243325.1|NP_065140.3	Q9H310	RHBG_HUMAN	Rh family, B glycoprotein (gene/pseudogene)	179					ammonium transmembrane transport (GO:0072488)|ammonium transport (GO:0015696)|transepithelial ammonium transport (GO:0070634)|transmembrane transport (GO:0055085)	anchored component of plasma membrane (GO:0046658)|basolateral plasma membrane (GO:0016323)|cytoplasmic vesicle (GO:0031410)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|spectrin-associated cytoskeleton (GO:0014731)	ammonium transmembrane transporter activity (GO:0008519)|ankyrin binding (GO:0030506)			endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(2)|stomach(1)|urinary_tract(1)	22	Hepatocellular(266;0.158)					GTGAGAGATGCCGGAGGCTCC	0.662																																						ENST00000400992.2																			0				endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(2)|stomach(1)|urinary_tract(1)	22						c.(439-441)gCc>gTc		Rh family, B glycoprotein (gene/pseudogene)							61	68	66					1																	156348053		2046	4221	6267	SO:0001583	missense	57127				transepithelial ammonium transport	anchored to plasma membrane|basolateral plasma membrane|cytoplasmic vesicle membrane|integral to plasma membrane|spectrin-associated cytoskeleton	ammonia transmembrane transporter activity|ammonium transmembrane transporter activity|ankyrin binding	g.chr1:156348053C>T	AF193807		1q22	2013-05-22	2009-01-22		ENSG00000132677	ENSG00000132677		"Solute carriers"	14572	protein-coding gene	gene with protein product		607079	"Rhesus blood group, B glycoprotein"			10852913	Standard	NM_020407		Approved	SLC42A2	uc010pho.3	Q9H310	OTTHUMG00000024057	ENST00000368249.1:c.536C>T	1.37:g.156348053C>T	ENSP00000357232:p.Ala179Val					RHBG_ENST00000255013.3_Missense_Mutation_p.A110V|RHBG_ENST00000451864.2_Missense_Mutation_p.A147V|RHBG_ENST00000368246.2_Missense_Mutation_p.A179V|RHBG_ENST00000368249.1_Missense_Mutation_p.A179V|RHBG_ENST00000537040.1_Intron	p.A147V			Q9H310	RHBG_HUMAN			4	808	+	Hepatocellular(266;0.158)		179					A8K475|Q5SZW4|Q5SZW6|Q5SZW7|Q6P193|Q6YJI2|Q6YJI3	Missense_Mutation	SNP	ENST00000368249.1	37	c.440C>T		.	.	.	.	.	.	.	.	.	.	C	8.962	0.970885	0.18659	.	.	ENSG00000132677	ENST00000368249;ENST00000368246;ENST00000400992;ENST00000255013;ENST00000451864	T;T;T;T;T	0.21031	2.03;2.03;2.03;2.03;2.03	4.68	4.68	0.58851	Ammonium transporter AmtB-like (3);	0.110302	0.64402	D	0.000011	T	0.15305	0.0369	L	0.38649	1.16	0.58432	D	0.999993	P;P;B	0.52061	0.822;0.95;0.103	B;P;B	0.57846	0.423;0.828;0.029	T	0.02868	-1.1100	10	0.08837	T	0.75	-19.5048	12.948	0.58384	0.0:0.8356:0.1644:0.0	.	179;147;216	Q9H310;Q9H310-3;Q5SZW5	RHBG_HUMAN;.;.	V	179;179;147;110;147	ENSP00000357232:A179V;ENSP00000357229:A179V;ENSP00000383777:A147V;ENSP00000255013:A110V;ENSP00000389836:A147V	ENSP00000255013:A110V	A	+	2	0	RHBG	154614677	0.998000	0.40836	0.929000	0.37066	0.384000	0.30261	3.911000	0.56378	2.415000	0.81967	0.511000	0.50034	GCC		0.662	RHBG-001	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000060589.2	NM_001256395		23	42	0	0	0	1	0	23	42					T	156348053	C	T	156348053	3	4	435	1	0	0	0	0	1	0	0	0	13324	739	26	3	550	3	RHBG	1	156348053	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	31420	156348053	92902568	623	21548											
C1orf61	10485	broad.mit.edu	37	chr1	156376942	156376942	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catatagatcttggttagacAtggagaaggacttcccaaga	14	10	10	7	0	1	4	0	0	1	4	2	6	2	5	1	3	0	1	1	3	5	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:156376942A>G	ENST00000368243.1	-	6	469	c.353T>C	c.(352-354)aTg>aCg	p.M118T	C1orf61_ENST00000488498.2_5'UTR	NM_006365.1	NP_006356.1	Q13536	CROC4_HUMAN	chromosome 1 open reading frame 61	118						nucleus (GO:0005634)				large_intestine(2)|lung(2)|skin(1)	5	Hepatocellular(266;0.158)					ttggttagacatggagaagga	0.468																																						ENST00000368243.1																			0				large_intestine(2)|lung(2)|skin(1)	5						c.(352-354)aTg>aCg		chromosome 1 open reading frame 61							72	63	66					1																	156376942		2203	4300	6503	SO:0001583	missense	10485					nucleus		g.chr1:156376942A>G		CCDS1142.1	1q22	2014-03-17			ENSG00000125462	ENSG00000125462			30780	protein-coding gene	gene with protein product	"contingent replication of cDNA-4", "transcriptional activator of the c fos promoter"					10995546, 23012322	Standard	XM_005244832		Approved	CROC4	uc001fou.1	Q13536	OTTHUMG00000031022	ENST00000368243.1:c.353T>C	1.37:g.156376942A>G	ENSP00000357226:p.Met118Thr						p.M118T	NM_006365.1	NP_006356.1	Q13536	CROC4_HUMAN			6	469	-	Hepatocellular(266;0.158)		118					B1ALL5|B1ALL8	Missense_Mutation	SNP	ENST00000368243.1	37	c.353T>C	CCDS1142.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	9.522|9.522	1.108496|1.108496	0.20714|0.20714	.|.	.|.	ENSG00000125462|ENSG00000125462	ENST00000368242|ENST00000368243;ENST00000357975	.|.	.|.	.|.	3.92|3.92	1.4|1.4	0.22301|0.22301	.|.	.|.	.|.	.|.	.|.	T|T	0.07369|0.07369	0.0186|0.0186	N|N	0.14661|0.14661	0.345|0.345	0.09310|0.09310	N|N	1|1	.|B	.|0.32160	.|0.358	.|B	.|0.30572	.|0.117	T|T	0.24799|0.24799	-1.0150|-1.0150	5|8	.|0.87932	.|D	.|0	-0.674|-0.674	4.4491|4.4491	0.11612|0.11612	0.596:0.2059:0.0:0.1981|0.596:0.2059:0.0:0.1981	.|.	.|118	.|Q13536	.|CROC4_HUMAN	R|T	150|118;131	.|.	.|ENSP00000350661:M131T	C|M	-|-	1|2	0|0	C1orf61|C1orf61	154643566|154643566	0.001000|0.001000	0.12720|0.12720	0.002000|0.002000	0.10522|0.10522	0.138000|0.138000	0.21146|0.21146	0.158000|0.158000	0.16422|0.16422	0.147000|0.147000	0.19030|0.19030	0.533000|0.533000	0.62120|0.62120	TGT|ATG		0.468	C1orf61-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075988.1	NM_006365		4	11	0	0	0	1	0	4	11					G	156376942	A	G	156376942	3	3	435	1	0	0	0	0	1	0	0	0	2052	217	8	4	125	4	C1orf61	1	156376942	Missense_Mutation	SNP	A	TCGA-XK-AAIW-01A-11D-A41K-08	28889	156376942	92873679	624	21549											
MEF2D	4209	broad.mit.edu	37	chr1	156438739	156438739	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctgttgccaggcagtgacAttgcctagcgacagcccccc	7	7	12	15	1	0	1	0	1	0	0	0	2	0	1	5	2	4	3	5	2	1	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:156438739A>G	ENST00000348159.4	-	10	1560	c.1080T>C	c.(1078-1080)aaT>aaC	p.N360N	MEF2D_ENST00000340875.5_Silent_p.N359N|MEF2D_ENST00000360595.3_Silent_p.N353N|MEF2D_ENST00000464356.2_Silent_p.N352N|MEF2D_ENST00000368240.2_Silent_p.N353N|MEF2D_ENST00000353795.3_Silent_p.N314N	NM_005920.2	NP_005911.1	Q14814	MEF2D_HUMAN	myocyte enhancer factor 2D	360					adult heart development (GO:0007512)|apoptotic process (GO:0006915)|chondrocyte differentiation (GO:0002062)|endochondral ossification (GO:0001958)|muscle organ development (GO:0007517)|nervous system development (GO:0007399)|osteoblast differentiation (GO:0001649)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal muscle cell differentiation (GO:0035914)|transcription from RNA polymerase II promoter (GO:0006366)	intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	activating transcription factor binding (GO:0033613)|histone deacetylase binding (GO:0042826)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(4)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1)	15	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					AGGCAGTGACATTGCCTAGCG	0.607																																						ENST00000348159.4																			0				endometrium(4)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1)	15						c.(1078-1080)aaT>aaC		myocyte enhancer factor 2D							52	50	51					1																	156438739		2203	4300	6503	SO:0001819	synonymous_variant	4209				apoptosis|muscle organ development|nervous system development|positive regulation of transcription from RNA polymerase II promoter	nucleus	activating transcription factor binding|histone deacetylase binding|RNA polymerase II regulatory region sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity	g.chr1:156438739A>G	BC054520	CCDS1143.1, CCDS60304.1	1q12-q23	2008-02-05	2007-04-24		ENSG00000116604	ENSG00000116604		"Myocyte enhancer factors"	6997	protein-coding gene	gene with protein product		600663				8269842	Standard	NM_005920		Approved		uc001fpb.4	Q14814	OTTHUMG00000033095	ENST00000348159.4:c.1080T>C	1.37:g.156438739A>G						MEF2D_ENST00000360595.3_Silent_p.N353N|MEF2D_ENST00000340875.5_Silent_p.N359N|MEF2D_ENST00000353795.3_Silent_p.N314N|MEF2D_ENST00000368240.2_Silent_p.N353N|MEF2D_ENST00000464356.1_Intron	p.N360N	NM_005920.2	NP_005911.1	Q14814	MEF2D_HUMAN			10	1560	-	all_hematologic(923;0.088)|Hepatocellular(266;0.158)		360					D3DVC0|Q14815|Q5T9U5|Q5T9U6	Silent	SNP	ENST00000348159.4	37	c.1080T>C	CCDS1143.1																																																																																				0.607	MEF2D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080562.2	NM_005920		18	14	0	0	0	1	0	18	14					G	156438739	A	G	156438739	2	3	435	1	0	0	0	0	0	0	0	1	9458	214	8	4		4	MEF2D	1	156438739	Silent	SNP	A	TCGA-XK-AAIW-01A-11D-A41K-08	61797	156438739	92811882	625	21550											
MEF2D	4209	broad.mit.edu	37	chr1	156444988	156444988	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gaaaccactggggtggtgagCgaatgagtagactgggagac	12	6	17	6	1	0	4	0	2	0	2	0	7	0	4	1	4	2	1	1	4	3	1	rs200731594		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:156444988C>T	ENST00000348159.4	-	9	1398	c.918G>A	c.(916-918)tcG>tcA	p.S306S	MEF2D_ENST00000340875.5_Silent_p.S305S|MEF2D_ENST00000360595.3_Silent_p.S299S|MEF2D_ENST00000464356.2_Silent_p.S298S|MEF2D_ENST00000368240.2_Silent_p.S299S|MEF2D_ENST00000353795.3_Silent_p.S260S	NM_005920.2	NP_005911.1	Q14814	MEF2D_HUMAN	myocyte enhancer factor 2D	306					adult heart development (GO:0007512)|apoptotic process (GO:0006915)|chondrocyte differentiation (GO:0002062)|endochondral ossification (GO:0001958)|muscle organ development (GO:0007517)|nervous system development (GO:0007399)|osteoblast differentiation (GO:0001649)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal muscle cell differentiation (GO:0035914)|transcription from RNA polymerase II promoter (GO:0006366)	intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	activating transcription factor binding (GO:0033613)|histone deacetylase binding (GO:0042826)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(4)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1)	15	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					GGGTGGTGAGCGAATGAGTAG	0.567																																						ENST00000348159.4																			0				endometrium(4)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1)	15						c.(916-918)tcG>tcA		myocyte enhancer factor 2D							92	83	86					1																	156444988		2203	4300	6503	SO:0001819	synonymous_variant	4209				apoptosis|muscle organ development|nervous system development|positive regulation of transcription from RNA polymerase II promoter	nucleus	activating transcription factor binding|histone deacetylase binding|RNA polymerase II regulatory region sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity	g.chr1:156444988C>T	BC054520	CCDS1143.1, CCDS60304.1	1q12-q23	2008-02-05	2007-04-24		ENSG00000116604	ENSG00000116604		"Myocyte enhancer factors"	6997	protein-coding gene	gene with protein product		600663				8269842	Standard	NM_005920		Approved		uc001fpb.4	Q14814	OTTHUMG00000033095	ENST00000348159.4:c.918G>A	1.37:g.156444988C>T						MEF2D_ENST00000360595.3_Silent_p.S299S|MEF2D_ENST00000340875.5_Silent_p.S305S|MEF2D_ENST00000353795.3_Silent_p.S260S|MEF2D_ENST00000368240.2_Silent_p.S299S|MEF2D_ENST00000464356.1_Intron	p.S306S	NM_005920.2	NP_005911.1	Q14814	MEF2D_HUMAN			9	1398	-	all_hematologic(923;0.088)|Hepatocellular(266;0.158)		306					D3DVC0|Q14815|Q5T9U5|Q5T9U6	Silent	SNP	ENST00000348159.4	37	c.918G>A	CCDS1143.1																																																																																				0.567	MEF2D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080562.2	NM_005920		14	27	0	0	0	1	0	14	27					T	156444988	C	T	156444988	2	4	435	1	0	0	0	0	0	0	0	1	9458	755	27	1		1	MEF2D	1	156444988	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	6249	156444988	92805633	626	21551											
IQGAP3	128239	broad.mit.edu	37	chr1	156498308	156498308	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caaagacacatactgagaggCgggaagatcttcaatttcca	15	8	9	9	1	2	3	1	1	1	3	3	5	3	4	1	2	1	0	1	2	4	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:156498308C>T	ENST00000361170.2	-	36	4676	c.4666G>A	c.(4666-4668)Gcc>Acc	p.A1556T	snoU13_ENST00000458777.1_RNA	NM_178229.4	NP_839943.2	Q86VI3	IQGA3_HUMAN	IQ motif containing GTPase activating protein 3	1556					activation of MAPK activity (GO:0000187)|cellular response to organic substance (GO:0071310)|ERK1 and ERK2 cascade (GO:0070371)|G1/S transition of mitotic cell cycle (GO:0000082)|negative regulation of gene expression (GO:0010629)|positive regulation of gene expression (GO:0010628)|positive regulation of mammary gland epithelial cell proliferation (GO:0033601)|Ras protein signal transduction (GO:0007265)|regulation of cell size (GO:0008361)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|lateral plasma membrane (GO:0016328)	Ras GTPase activator activity (GO:0005099)	p.A1556T(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(14)|lung(29)|ovary(5)|prostate(5)|skin(5)|urinary_tract(3)	75	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					TACTGAGAGGCGGGAAGATCT	0.547																																						ENST00000361170.2																			1	Substitution - Missense(1)	p.A1556T(1)	lung(1)	NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(14)|lung(29)|ovary(5)|prostate(5)|skin(5)|urinary_tract(3)	75						c.(4666-4668)Gcc>Acc		IQ motif containing GTPase activating protein 3							74	74	74					1																	156498308		2203	4300	6503	SO:0001583	missense	128239				small GTPase mediated signal transduction	intracellular	calmodulin binding|Ras GTPase activator activity	g.chr1:156498308C>T	AY253300	CCDS1144.1	1q21.3	2008-02-05			ENSG00000183856	ENSG00000183856			20669	protein-coding gene	gene with protein product							Standard	NM_178229		Approved		uc001fpf.3	Q86VI3	OTTHUMG00000033114	ENST00000361170.2:c.4666G>A	1.37:g.156498308C>T	ENSP00000354451:p.Ala1556Thr						p.A1556T	NM_178229.4	NP_839943.2	Q86VI3	IQGA3_HUMAN			36	4676	-	all_hematologic(923;0.088)|Hepatocellular(266;0.158)		1556					Q5T3H8	Missense_Mutation	SNP	ENST00000361170.2	37	c.4666G>A	CCDS1144.1	.	.	.	.	.	.	.	.	.	.	C	1.465	-0.561413	0.03939	.	.	ENSG00000183856	ENST00000361170	T	0.02258	4.37	4.94	-2.23	0.06930	.	1.504990	0.03438	N	0.208809	T	0.00210	0.0006	N	0.00801	-1.175	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.46470	-0.9189	10	0.10636	T	0.68	-0.0471	2.2194	0.03969	0.1185:0.1534:0.3527:0.3754	.	1556	Q86VI3	IQGA3_HUMAN	T	1556	ENSP00000354451:A1556T	ENSP00000354451:A1556T	A	-	1	0	IQGAP3	154764932	0.000000	0.05858	0.058000	0.19502	0.993000	0.82548	-2.627000	0.00874	-0.653000	0.05401	-0.218000	0.12543	GCC		0.547	IQGAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080657.1	NM_178229		18	32	0	0	0	1	0	18	32					T	156498308	C	T	156498308	3	4	435	1	0	0	0	0	1	0	0	0	7816	768	27	1	241	1	IQGAP3	1	156498308	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	53320	156498308	92752313	627	21552											
IQGAP3	128239	broad.mit.edu	37	chr1	156506973	156506973	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggtggggctgttgcacatacGgaatttggtccacagatgag	9	10	15	7	1	0	2	0	1	0	1	1	3	1	3	1	5	2	3	1	5	2	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:156506973G>A	ENST00000361170.2	-	27	3432	c.3422C>T	c.(3421-3423)cCg>cTg	p.P1141L	IQGAP3_ENST00000498755.1_5'UTR	NM_178229.4	NP_839943.2	Q86VI3	IQGA3_HUMAN	IQ motif containing GTPase activating protein 3	1141	Ras-GAP. {ECO:0000255|PROSITE- ProRule:PRU00167}.				activation of MAPK activity (GO:0000187)|cellular response to organic substance (GO:0071310)|ERK1 and ERK2 cascade (GO:0070371)|G1/S transition of mitotic cell cycle (GO:0000082)|negative regulation of gene expression (GO:0010629)|positive regulation of gene expression (GO:0010628)|positive regulation of mammary gland epithelial cell proliferation (GO:0033601)|Ras protein signal transduction (GO:0007265)|regulation of cell size (GO:0008361)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|lateral plasma membrane (GO:0016328)	Ras GTPase activator activity (GO:0005099)	p.P1141Q(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(14)|lung(29)|ovary(5)|prostate(5)|skin(5)|urinary_tract(3)	75	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					TTGCACATACGGAATTTGGTC	0.582																																						ENST00000361170.2																			1	Substitution - Missense(1)	p.P1141Q(1)	lung(1)	NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(14)|lung(29)|ovary(5)|prostate(5)|skin(5)|urinary_tract(3)	75						c.e27+1		IQ motif containing GTPase activating protein 3							151	128	136					1																	156506973		2203	4300	6503	SO:0001630	splice_region_variant	128239				small GTPase mediated signal transduction	intracellular	calmodulin binding|Ras GTPase activator activity	g.chr1:156506973G>A	AY253300	CCDS1144.1	1q21.3	2008-02-05			ENSG00000183856	ENSG00000183856			20669	protein-coding gene	gene with protein product							Standard	NM_178229		Approved		uc001fpf.3	Q86VI3	OTTHUMG00000033114	ENST00000361170.2:c.3422+1C>T	1.37:g.156506973G>A						IQGAP3_ENST00000498755.1_5'UTR	p.P1141_splice	NM_178229.4	NP_839943.2	Q86VI3	IQGA3_HUMAN			27	3432	-	all_hematologic(923;0.088)|Hepatocellular(266;0.158)		1141			Ras-GAP.		Q5T3H8	Splice_Site	SNP	ENST00000361170.2	37	c.3422_splice	CCDS1144.1	.	.	.	.	.	.	.	.	.	.	G	32	5.193231	0.94960	.	.	ENSG00000183856	ENST00000361170	D	0.97529	-4.42	4.93	4.93	0.64822	Rho GTPase activation protein (1);Ras GTPase-activating protein (4);	0.000000	0.85682	D	0.000000	D	0.98378	0.9461	M	0.87827	2.91	0.80722	D	1	D	0.76494	0.999	D	0.65443	0.935	D	0.99271	1.0893	10	0.87932	D	0	-32.7915	16.8795	0.86060	0.0:0.0:1.0:0.0	.	1141	Q86VI3	IQGA3_HUMAN	L	1141	ENSP00000354451:P1141L	ENSP00000354451:P1141L	P	-	2	0	IQGAP3	154773597	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	9.657000	0.98554	2.566000	0.86566	0.561000	0.74099	CCG		0.582	IQGAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080657.1	NM_178229	Missense_Mutation	31	40	0	0	0	1	0	31	40					A	156506973	G	A	156506973	5	1	435	1	0	0	0	0	0	0	1	0	7816	1130	39	2	1521	2	IQGAP3	1	156506973	Splice_Site	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	8665	156506973	92743648	628	21553											
IQGAP3	128239	broad.mit.edu	37	chr1	156521862	156521862	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acccatcccacgctcctgtcGcaatttcagcagggcatcga	9	8	8	16	3	1	0	1	0	0	0	5	1	3	0	3	1	1	4	3	1	1	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:156521862G>A	ENST00000361170.2	-	14	1484	c.1474C>T	c.(1474-1476)Cga>Tga	p.R492*		NM_178229.4	NP_839943.2	Q86VI3	IQGA3_HUMAN	IQ motif containing GTPase activating protein 3	492					activation of MAPK activity (GO:0000187)|cellular response to organic substance (GO:0071310)|ERK1 and ERK2 cascade (GO:0070371)|G1/S transition of mitotic cell cycle (GO:0000082)|negative regulation of gene expression (GO:0010629)|positive regulation of gene expression (GO:0010628)|positive regulation of mammary gland epithelial cell proliferation (GO:0033601)|Ras protein signal transduction (GO:0007265)|regulation of cell size (GO:0008361)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|lateral plasma membrane (GO:0016328)	Ras GTPase activator activity (GO:0005099)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(14)|lung(29)|ovary(5)|prostate(5)|skin(5)|urinary_tract(3)	75	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					CGCTCCTGTCGCAATTTCAGC	0.552																																						ENST00000361170.2																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(14)|lung(29)|ovary(5)|prostate(5)|skin(5)|urinary_tract(3)	75						c.(1474-1476)Cga>Tga		IQ motif containing GTPase activating protein 3							99	79	86					1																	156521862		2203	4300	6503	SO:0001587	stop_gained	128239				small GTPase mediated signal transduction	intracellular	calmodulin binding|Ras GTPase activator activity	g.chr1:156521862G>A	AY253300	CCDS1144.1	1q21.3	2008-02-05			ENSG00000183856	ENSG00000183856			20669	protein-coding gene	gene with protein product							Standard	NM_178229		Approved		uc001fpf.3	Q86VI3	OTTHUMG00000033114	ENST00000361170.2:c.1474C>T	1.37:g.156521862G>A	ENSP00000354451:p.Arg492*						p.R492*	NM_178229.4	NP_839943.2	Q86VI3	IQGA3_HUMAN			14	1484	-	all_hematologic(923;0.088)|Hepatocellular(266;0.158)		492					Q5T3H8	Nonsense_Mutation	SNP	ENST00000361170.2	37	c.1474C>T	CCDS1144.1	.	.	.	.	.	.	.	.	.	.	G	38	6.687178	0.97764	.	.	ENSG00000183856	ENST00000361170	.	.	.	4.96	4.04	0.47022	.	0.278896	0.28977	N	0.013539	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.11182	T	0.66	-0.0241	8.4952	0.33123	0.0847:0.0:0.7642:0.1511	.	.	.	.	X	492	.	ENSP00000354451:R492X	R	-	1	2	IQGAP3	154788486	0.972000	0.33761	0.678000	0.29963	0.728000	0.41692	2.516000	0.45520	2.302000	0.77476	0.462000	0.41574	CGA		0.552	IQGAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080657.1	NM_178229		13	23	0	0	0	1	0	13	23					A	156521862	G	A	156521862	4	1	435	1	0	0	0	0	0	1	0	0	7816	1095	38	1	3521	1	IQGAP3	1	156521862	Nonsense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	14889	156521862	92728759	629	21554											
TTC24	164118	broad.mit.edu	37	chr1	156555582	156555582	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtttaccaagcacacgcccTgcagagggacagtcctcggc	9	6	11	15	3	0	1	0	0	0	1	2	2	1	2	3	2	3	3	3	2	2	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:156555582T>C	ENST00000368237.3	+	8	1534	c.1534T>C	c.(1534-1536)Tgc>Cgc	p.C512R	TTC24_ENST00000478081.1_3'UTR|AL365181.1_ENST00000581084.1_RNA|TTC24_ENST00000368236.3_Missense_Mutation_p.C512R			A2A3L6	TTC24_HUMAN	tetratricopeptide repeat domain 24	512										breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|pancreas(1)|prostate(1)	20	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					GCACACGCCCTGCAGAGGGAC	0.522																																						ENST00000368236.3																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|pancreas(1)|prostate(1)	20						c.(1534-1536)Tgc>Cgc		tetratricopeptide repeat domain 24							111	113	112					1																	156555582		2129	4229	6358	SO:0001583	missense	164118						binding	g.chr1:156555582T>C		CCDS53379.1	1q22	2013-01-10			ENSG00000187862	ENSG00000187862		"Tetratricopeptide (TTC) repeat domain containing"	32348	protein-coding gene	gene with protein product							Standard	NM_001105669		Approved		uc021pbf.1	A2A3L6	OTTHUMG00000033202	ENST00000368237.3:c.1534T>C	1.37:g.156555582T>C	ENSP00000357220:p.Cys512Arg					TTC24_ENST00000495690.1_3'UTR|TTC24_ENST00000368237.3_Missense_Mutation_p.C512R	p.C512R	NM_001105669.2	NP_001099139.2	A2A3L6	TTC24_HUMAN			9	1570	+	all_hematologic(923;0.088)|Hepatocellular(266;0.158)		512					Q5T3H7	Missense_Mutation	SNP	ENST00000368237.3	37	c.1534T>C	CCDS53379.1	.	.	.	.	.	.	.	.	.	.	T	6.963	0.547649	0.13312	.	.	ENSG00000187862	ENST00000368236;ENST00000368237	T;T	0.24151	1.87;1.87	2.39	-1.82	0.07857	.	.	.	.	.	T	0.02342	0.0072	N	0.14661	0.345	0.09310	N	1	P	0.40476	0.718	B	0.30646	0.118	T	0.34477	-0.9827	9	0.16896	T	0.51	.	2.3078	0.04178	0.4393:0.1471:0.0:0.4136	.	512	A2A3L6	TTC24_HUMAN	R	512	ENSP00000357219:C512R;ENSP00000357220:C512R	ENSP00000357219:C512R	C	+	1	0	TTC24	154822206	0.000000	0.05858	0.000000	0.03702	0.062000	0.15995	-1.940000	0.01543	-0.443000	0.07180	0.379000	0.24179	TGC		0.522	TTC24-006	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000158547.1	XM_089384		18	25	0	0	0	1	0	18	25					C	156555582	T	C	156555582	3	2	435	1	0	0	0	0	1	0	0	0	16689	1580	55	4	1564	4	TTC24	1	156555582	Missense_Mutation	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	33720	156555582	92695039	630	21555											
BCAN	63827	broad.mit.edu	37	chr1	156617818	156617818	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	aggcctgttacggagacatgGatggcttccccggggtccgg	6	8	16	11	3	0	1	0	0	0	1	2	3	2	2	4	7	1	2	4	7	1	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:156617818G>A	ENST00000329117.5	+	5	1021	c.685G>A	c.(685-687)Gat>Aat	p.D229N	BCAN_ENST00000361588.5_Missense_Mutation_p.D229N|RP11-284F21.7_ENST00000448869.1_RNA	NM_021948.4	NP_068767.3	Q96GW7	PGCB_HUMAN	brevican	229	Link 1. {ECO:0000255|PROSITE- ProRule:PRU00323}.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|hippocampus development (GO:0021766)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)	carbohydrate binding (GO:0030246)|hyaluronic acid binding (GO:0005540)			cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	55	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					CGGAGACATGGATGGCTTCCC	0.532																																						ENST00000329117.4																			0				cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	55						c.(685-687)Gat>Aat		brevican							131	127	129					1																	156617818		2203	4300	6503	SO:0001583	missense	63827				cell adhesion	anchored to membrane|proteinaceous extracellular matrix	hyaluronic acid binding|sugar binding	g.chr1:156617818G>A	BC027971	CCDS1149.1, CCDS1150.1	1q31	2013-05-07			ENSG00000132692	ENSG00000132692		"Immunoglobulin superfamily / V-set domain containing", "Proteoglycans / Extracellular Matrix : Hyalectans"	23059	protein-coding gene	gene with protein product	"chondroitin sulfate proteoglycan 7", "brevican proteoglycan"	600347				11054543, 11873941	Standard	NM_021948		Approved	BEHAB, MGC13038, CSPG7	uc001fpp.3	Q96GW7	OTTHUMG00000033322	ENST00000329117.5:c.685G>A	1.37:g.156617818G>A	ENSP00000331210:p.Asp229Asn					RP11-284F21.7_ENST00000448869.1_RNA|BCAN_ENST00000361588.5_Missense_Mutation_p.D229N	p.D229N	NM_021948.4	NP_068767.3	Q96GW7	PGCB_HUMAN			5	1021	+	all_hematologic(923;0.088)|Hepatocellular(266;0.158)		229			Link 1.		D3DVC2|Q5SZ10|Q5T3I5|Q8TBB9|Q9HBK1|Q9HBK4	Missense_Mutation	SNP	ENST00000329117.5	37	c.685G>A	CCDS1149.1	.	.	.	.	.	.	.	.	.	.	G	16.97	3.267870	0.59540	.	.	ENSG00000132692	ENST00000255029;ENST00000329117;ENST00000424639;ENST00000361588	T;T;T	0.17370	2.48;2.28;3.2	3.9	3.9	0.45041	C-type lectin fold (1);Link (3);C-type lectin-like (1);	0.000000	0.56097	D	0.000026	T	0.09247	0.0228	L	0.31845	0.965	0.44214	D	0.997048	P;P	0.42908	0.793;0.584	P;B	0.51895	0.683;0.285	T	0.12863	-1.0531	10	0.23891	T	0.37	-14.9233	5.8707	0.18802	0.2171:0.0:0.7829:0.0	.	229;229	Q96GW7;Q96GW7-2	PGCB_HUMAN;.	N	170;229;127;229	ENSP00000331210:D229N;ENSP00000401709:D127N;ENSP00000354925:D229N	ENSP00000255029:D170N	D	+	1	0	BCAN	154884442	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.668000	0.46816	2.005000	0.58758	0.555000	0.69702	GAT		0.532	BCAN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081844.2	NM_021948		22	44	0	0	0	1	0	22	44					A	156617818	G	A	156617818	3	1	435	1	0	0	0	0	1	0	0	0	1345	1174	41	3	699	3	BCAN	1	156617818	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	62236	156617818	92632803	631	21556											
BCAN	63827	broad.mit.edu	37	chr1	156618630	156618630	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cttccccaataagcacagccGcttcaacgtctactgcttcc	9	10	5	17	2	2	0	1	0	1	0	4	0	4	0	4	0	5	3	4	0	4	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:156618630G>A	ENST00000329117.5	+	6	1376	c.1040G>A	c.(1039-1041)cGc>cAc	p.R347H	BCAN_ENST00000361588.5_Missense_Mutation_p.R347H|RP11-284F21.7_ENST00000448869.1_RNA	NM_021948.4	NP_068767.3	Q96GW7	PGCB_HUMAN	brevican	347	Link 2. {ECO:0000255|PROSITE- ProRule:PRU00323}.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|hippocampus development (GO:0021766)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)	carbohydrate binding (GO:0030246)|hyaluronic acid binding (GO:0005540)			cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	55	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					AAGCACAGCCGCTTCAACGTC	0.572																																						ENST00000329117.4																			0				cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	55						c.(1039-1041)cGc>cAc		brevican							85	87	86					1																	156618630		2203	4299	6502	SO:0001583	missense	63827				cell adhesion	anchored to membrane|proteinaceous extracellular matrix	hyaluronic acid binding|sugar binding	g.chr1:156618630G>A	BC027971	CCDS1149.1, CCDS1150.1	1q31	2013-05-07			ENSG00000132692	ENSG00000132692		"Immunoglobulin superfamily / V-set domain containing", "Proteoglycans / Extracellular Matrix : Hyalectans"	23059	protein-coding gene	gene with protein product	"chondroitin sulfate proteoglycan 7", "brevican proteoglycan"	600347				11054543, 11873941	Standard	NM_021948		Approved	BEHAB, MGC13038, CSPG7	uc001fpp.3	Q96GW7	OTTHUMG00000033322	ENST00000329117.5:c.1040G>A	1.37:g.156618630G>A	ENSP00000331210:p.Arg347His					RP11-284F21.7_ENST00000448869.1_RNA|BCAN_ENST00000361588.5_Missense_Mutation_p.R347H	p.R347H	NM_021948.4	NP_068767.3	Q96GW7	PGCB_HUMAN			6	1376	+	all_hematologic(923;0.088)|Hepatocellular(266;0.158)		347			Link 2.		D3DVC2|Q5SZ10|Q5T3I5|Q8TBB9|Q9HBK1|Q9HBK4	Missense_Mutation	SNP	ENST00000329117.5	37	c.1040G>A	CCDS1149.1	.	.	.	.	.	.	.	.	.	.	G	24.0	4.480788	0.84747	.	.	ENSG00000132692	ENST00000255029;ENST00000329117;ENST00000361588	T;T	0.12465	2.68;2.68	4.72	4.72	0.59763	C-type lectin fold (1);Link (3);C-type lectin-like (1);	0.102141	0.41194	D	0.000921	T	0.23532	0.0569	M	0.67517	2.055	0.51482	D	0.999921	D;D	0.89917	1.0;0.99	D;P	0.79108	0.992;0.86	T	0.00605	-1.1648	10	0.87932	D	0	-17.4487	10.0728	0.42343	0.093:0.0:0.907:0.0	.	347;347	Q96GW7;Q96GW7-2	PGCB_HUMAN;.	H	288;347;347	ENSP00000331210:R347H;ENSP00000354925:R347H	ENSP00000255029:R288H	R	+	2	0	BCAN	154885254	0.780000	0.28664	1.000000	0.80357	0.984000	0.73092	3.661000	0.54503	2.453000	0.82957	0.462000	0.41574	CGC		0.572	BCAN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081844.2	NM_021948		91	10	0	0	0	1	0	91	10					A	156618630	G	A	156618630	3	1	435	1	0	0	0	0	1	0	0	0	1345	1087	38	1	1058	1	BCAN	1	156618630	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	812	156618630	92631991	632	21557											
BCAN	63827	broad.mit.edu	37	chr1	156626136	156626136	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tggaggaggaggaaggggtcCgctgcctatgtctgcctggc	6	8	18	9	1	1	0	0	0	1	0	2	4	2	4	3	7	2	1	3	7	2	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:156626136C>T	ENST00000329117.5	+	9	2341	c.2005C>T	c.(2005-2007)Cgc>Tgc	p.R669C	RP11-284F21.7_ENST00000448869.1_RNA	NM_021948.4	NP_068767.3	Q96GW7	PGCB_HUMAN	brevican	669	EGF-like. {ECO:0000255|PROSITE- ProRule:PRU00076}.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|hippocampus development (GO:0021766)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)	carbohydrate binding (GO:0030246)|hyaluronic acid binding (GO:0005540)	p.R669C(1)		cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	55	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					GGAAGGGGTCCGCTGCCTATG	0.642																																						ENST00000329117.4																			1	Substitution - Missense(1)	p.R669C(1)	endometrium(1)	cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	55						c.(2005-2007)Cgc>Tgc		brevican							91	82	85					1																	156626136		2203	4300	6503	SO:0001583	missense	63827				cell adhesion	anchored to membrane|proteinaceous extracellular matrix	hyaluronic acid binding|sugar binding	g.chr1:156626136C>T	BC027971	CCDS1149.1, CCDS1150.1	1q31	2013-05-07			ENSG00000132692	ENSG00000132692		"Immunoglobulin superfamily / V-set domain containing", "Proteoglycans / Extracellular Matrix : Hyalectans"	23059	protein-coding gene	gene with protein product	"chondroitin sulfate proteoglycan 7", "brevican proteoglycan"	600347				11054543, 11873941	Standard	NM_021948		Approved	BEHAB, MGC13038, CSPG7	uc001fpp.3	Q96GW7	OTTHUMG00000033322	ENST00000329117.5:c.2005C>T	1.37:g.156626136C>T	ENSP00000331210:p.Arg669Cys					RP11-284F21.7_ENST00000448869.1_RNA	p.R669C	NM_021948.4	NP_068767.3	Q96GW7	PGCB_HUMAN			9	2341	+	all_hematologic(923;0.088)|Hepatocellular(266;0.158)		669			EGF-like.		D3DVC2|Q5SZ10|Q5T3I5|Q8TBB9|Q9HBK1|Q9HBK4	Missense_Mutation	SNP	ENST00000329117.5	37	c.2005C>T	CCDS1149.1	.	.	.	.	.	.	.	.	.	.	C	15.90	2.970691	0.53614	.	.	ENSG00000132692	ENST00000329117	D	0.92595	-3.07	5.42	4.45	0.53987	EGF (1);Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.326943	0.25695	N	0.028917	D	0.93350	0.7880	M	0.86343	2.81	0.80722	D	1	D	0.58970	0.984	P	0.50270	0.636	D	0.93856	0.7149	10	0.59425	D	0.04	-19.1406	14.3705	0.66836	0.0:0.8512:0.1488:0.0	.	669	Q96GW7	PGCB_HUMAN	C	669	ENSP00000331210:R669C	ENSP00000331210:R669C	R	+	1	0	BCAN	154892760	0.013000	0.17824	1.000000	0.80357	0.226000	0.24999	0.607000	0.24209	2.544000	0.85801	0.561000	0.74099	CGC		0.642	BCAN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081844.2	NM_021948		31	40	0	0	0	1	0	31	40					T	156626136	C	T	156626136	3	4	435	1	0	0	0	0	1	0	0	0	1345	652	23	2	2109	2	BCAN	1	156626136	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	7506	156626136	92624485	633	21558											
ISG20L2	81875	broad.mit.edu	37	chr1	156693974	156693974	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttagcagcttcttggtgagaTgcttcagagacatggtggca	9	12	13	7	0	2	2	1	1	1	2	2	4	2	2	0	3	3	4	0	3	1	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:156693974T>C	ENST00000313146.6	-	2	1696	c.914A>G	c.(913-915)cAt>cGt	p.H305R	ISG20L2_ENST00000368219.1_Missense_Mutation_p.H305R|ISG20L2_ENST00000472824.2_5'UTR	NM_030980.1	NP_112242.1	Q9H9L3	I20L2_HUMAN	interferon stimulated exonuclease gene 20kDa-like 2	305	Exonuclease.				ribosome biogenesis (GO:0042254)	nucleus (GO:0005634)	exonuclease activity (GO:0004527)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	16	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					CTTGGTGAGATGCTTCAGAGA	0.587																																						ENST00000313146.6																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	16						c.(913-915)cAt>cGt		interferon stimulated exonuclease gene 20kDa-like 2							116	115	115					1																	156693974		2203	4300	6503	SO:0001583	missense	81875				ribosome biogenesis	nucleolus	exonuclease activity|nucleic acid binding|protein binding	g.chr1:156693974T>C	AK095697	CCDS1153.1	1q23.1	2013-10-11			ENSG00000143319	ENSG00000143319			25745	protein-coding gene	gene with protein product		611930				18065403	Standard	NM_030980		Approved	FLJ12671	uc001fps.1	Q9H9L3	OTTHUMG00000041301	ENST00000313146.6:c.914A>G	1.37:g.156693974T>C	ENSP00000323424:p.His305Arg					ISG20L2_ENST00000472824.1_5'UTR|ISG20L2_ENST00000368219.1_Missense_Mutation_p.H305R	p.H305R	NM_030980.1	NP_112242.1	Q9H9L3	I20L2_HUMAN			2	1696	-	all_hematologic(923;0.088)|Hepatocellular(266;0.158)		305			Exonuclease.		D3DVC6|Q64KA2	Missense_Mutation	SNP	ENST00000313146.6	37	c.914A>G	CCDS1153.1	.	.	.	.	.	.	.	.	.	.	T	0.970	-0.700334	0.03279	.	.	ENSG00000143319	ENST00000313146;ENST00000368219	T;T	0.20881	2.04;2.04	5.73	-4.7	0.03288	Exonuclease (1);Exonuclease, RNase T/DNA polymerase III (1);Ribonuclease H-like (1);	0.919658	0.09370	N	0.811459	T	0.01454	0.0047	N	0.01277	-0.915	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.46048	-0.9219	10	0.22706	T	0.39	2.7785	7.192	0.25831	0.1097:0.3546:0.0:0.5356	.	305	Q9H9L3	I20L2_HUMAN	R	305	ENSP00000323424:H305R;ENSP00000357202:H305R	ENSP00000323424:H305R	H	-	2	0	ISG20L2	154960598	0.000000	0.05858	0.001000	0.08648	0.891000	0.51852	-0.748000	0.04818	-1.335000	0.02241	-1.857000	0.00563	CAT		0.587	ISG20L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098969.1	NM_030980		13	57	0	0	0	1	0	13	57					C	156693974	T	C	156693974	3	2	435	1	0	0	0	0	1	0	0	0	7855	1464	51	4	155	4	ISG20L2	1	156693974	Missense_Mutation	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	67838	156693974	92556647	634	21559											
PRCC	5546	broad.mit.edu	37	chr1	156737869	156737869	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtgagcccggctgaagcggcGggagttggggagggactggg	6	5	23	7	3	0	2	0	2	0	0	0	5	0	5	1	7	2	2	1	7	1	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:156737869G>A	ENST00000271526.4	+	1	578	c.306G>A	c.(304-306)gcG>gcA	p.A102A	PRCC_ENST00000353233.3_Silent_p.A102A|HDGF_ENST00000465180.1_5'Flank|PRCC_ENST00000491853.1_Intron	NM_005973.4	NP_005964.3	Q92733	PRCC_HUMAN	papillary renal cell carcinoma (translocation-associated)	102					mitotic cell cycle checkpoint (GO:0007093)	intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)			PRCC/TFE3(25)	breast(1)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(1)|liver(1)|lung(5)|upper_aerodigestive_tract(1)	15	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					CTGAAGCGGCGGGAGTTGGGG	0.726			T	TFE3	papillary renal																																	ENST00000271526.4				Dom	yes		1	1q21.1	5546	T	papillary renal cell carcinoma (translocation-associated)			E	TFE3		papillary renal	PRCC/TFE3(25)	0				breast(1)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(1)|liver(1)|lung(5)|upper_aerodigestive_tract(1)	15						c.(304-306)gcG>gcA		papillary renal cell carcinoma (translocation-associated)							6	8	7					1																	156737869		2132	4171	6303	SO:0001819	synonymous_variant	5546				cell cycle|mitotic cell cycle checkpoint	nucleus	protein binding	g.chr1:156737869G>A	X99720	CCDS1157.1	1q21.1	2008-02-05			ENSG00000143294	ENSG00000143294			9343	protein-coding gene	gene with protein product		179755				8872474	Standard	NM_005973		Approved	RCCP1	uc001fqa.3	Q92733	OTTHUMG00000041294	ENST00000271526.4:c.306G>A	1.37:g.156737869G>A						PRCC_ENST00000491853.1_Intron|PRCC_ENST00000353233.3_Silent_p.A102A	p.A102A	NM_005973.4	NP_005964.3	Q92733	PRCC_HUMAN			1	578	+	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)		102					A8K1F7|O00665|O00724|Q5SZ06	Silent	SNP	ENST00000271526.4	37	c.306G>A	CCDS1157.1																																																																																				0.726	PRCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098941.2	NM_005973		3	7	0	0	0	1	0	3	7					A	156737869	G	A	156737869	2	1	435	1	0	0	0	0	0	0	0	1	12447	1103	39	2		2	PRCC	1	156737869	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	43895	156737869	92512752	635	21560											
PRCC	5546	broad.mit.edu	37	chr1	156764468	156764468	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cttttccagtttaagcggctGcagggcaagaggaaccgagg	10	8	14	9	2	0	1	0	0	0	1	1	3	1	2	2	4	3	4	2	4	3	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:156764468G>A	ENST00000271526.4	+	5	1463	c.1191G>A	c.(1189-1191)ctG>ctA	p.L397L	PRCC_ENST00000353233.3_Silent_p.L365L	NM_005973.4	NP_005964.3	Q92733	PRCC_HUMAN	papillary renal cell carcinoma (translocation-associated)	397					mitotic cell cycle checkpoint (GO:0007093)	intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)			PRCC/TFE3(25)	breast(1)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(1)|liver(1)|lung(5)|upper_aerodigestive_tract(1)	15	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					TTAAGCGGCTGCAGGGCAAGA	0.473			T	TFE3	papillary renal																																	ENST00000271526.4				Dom	yes		1	1q21.1	5546	T	papillary renal cell carcinoma (translocation-associated)			E	TFE3		papillary renal	PRCC/TFE3(25)	0				breast(1)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(1)|liver(1)|lung(5)|upper_aerodigestive_tract(1)	15						c.(1189-1191)ctG>ctA		papillary renal cell carcinoma (translocation-associated)							53	56	55					1																	156764468		2203	4300	6503	SO:0001819	synonymous_variant	5546				cell cycle|mitotic cell cycle checkpoint	nucleus	protein binding	g.chr1:156764468G>A	X99720	CCDS1157.1	1q21.1	2008-02-05			ENSG00000143294	ENSG00000143294			9343	protein-coding gene	gene with protein product		179755				8872474	Standard	NM_005973		Approved	RCCP1	uc001fqa.3	Q92733	OTTHUMG00000041294	ENST00000271526.4:c.1191G>A	1.37:g.156764468G>A						PRCC_ENST00000353233.3_Silent_p.L365L	p.L397L	NM_005973.4	NP_005964.3	Q92733	PRCC_HUMAN			5	1463	+	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)		397					A8K1F7|O00665|O00724|Q5SZ06	Silent	SNP	ENST00000271526.4	37	c.1191G>A	CCDS1157.1	.	.	.	.	.	.	.	.	.	.	G	5.615	0.298265	0.10622	.	.	ENSG00000143294	ENST00000454659	.	.	.	4.7	-4.11	0.03928	.	.	.	.	.	T	0.33089	0.0851	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.45011	-0.9290	4	.	.	.	-4.8373	6.8961	0.24257	0.4231:0.0:0.4588:0.1181	.	.	.	.	Y	163	.	.	C	+	2	0	PRCC	155031092	0.696000	0.27757	0.989000	0.46669	0.621000	0.37620	-0.338000	0.07842	-0.434000	0.07275	-1.012000	0.02466	TGC		0.473	PRCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098941.2	NM_005973		13	19	0	0	0	1	0	13	19					A	156764468	G	A	156764468	2	1	435	1	0	0	0	0	0	0	0	1	12447	1306	46	3		3	PRCC	1	156764468	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	26599	156764468	92486153	636	21561											
NTRK1	4914	broad.mit.edu	37	chr1	156843599	156843599	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggcagccaatgagaccgtgcGgcacgggtgtctgcgcctca	7	6	15	13	4	2	1	1	1	1	1	2	2	2	1	3	3	3	2	3	3	1	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:156843599G>A	ENST00000524377.1	+	8	1066	c.1025G>A	c.(1024-1026)cGg>cAg	p.R342Q	NTRK1_ENST00000392302.2_Missense_Mutation_p.R312Q|NTRK1_ENST00000368196.3_Missense_Mutation_p.R342Q|NTRK1_ENST00000358660.3_Missense_Mutation_p.R342Q	NM_002529.3	NP_002520.2	P04629	NTRK1_HUMAN	neurotrophic tyrosine kinase, receptor, type 1	342	Ig-like C2-type 2.				activation of adenylate cyclase activity (GO:0007190)|activation of MAPKK activity (GO:0000186)|activation of phospholipase C activity (GO:0007202)|aging (GO:0007568)|axon guidance (GO:0007411)|axonogenesis involved in innervation (GO:0060385)|B cell differentiation (GO:0030183)|cellular response to nerve growth factor stimulus (GO:1990090)|cellular response to nicotine (GO:0071316)|circadian rhythm (GO:0007623)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|developmental programmed cell death (GO:0010623)|learning or memory (GO:0007611)|mechanoreceptor differentiation (GO:0042490)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|olfactory nerve development (GO:0021553)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of angiogenesis (GO:0045766)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron projection development (GO:0010976)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of programmed cell death (GO:0043068)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Ras protein signal transduction (GO:0046579)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|Ras protein signal transduction (GO:0007265)|response to activity (GO:0014823)|response to axon injury (GO:0048678)|response to drug (GO:0042493)|response to electrical stimulus (GO:0051602)|response to ethanol (GO:0045471)|response to hydrostatic pressure (GO:0051599)|response to nutrient levels (GO:0031667)|response to radiation (GO:0009314)|Sertoli cell development (GO:0060009)|small GTPase mediated signal transduction (GO:0007264)|sympathetic nervous system development (GO:0048485)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	axon (GO:0030424)|cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|early endosome (GO:0005769)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|nerve growth factor binding (GO:0048406)|nerve growth factor receptor activity (GO:0010465)|neurotrophin binding (GO:0043121)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.R312Q(3)|p.R342Q(3)		breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(35)|ovary(8)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	74	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)				Amitriptyline(DB00321)|Imatinib(DB00619)|Regorafenib(DB08896)	GAGACCGTGCGGCACGGGTGT	0.632			T	"TPM3, TPR, TFG"	papillary thyroid					TSP Lung(10;0.080)																												ENST00000368196.3				Dom	yes		1	1q21-q22	4914	T	"neurotrophic tyrosine kinase, receptor, type 1"			E	"TPM3, TPR, TFG"		papillary thyroid		6	Substitution - Missense(6)	p.R312Q(3)|p.R342Q(3)	lung(2)|breast(2)|endometrium(2)	breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(35)|ovary(8)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	74						c.(1024-1026)cGg>cAg		neurotrophic tyrosine kinase, receptor, type 1	Imatinib(DB00619)						59	41	47					1																	156843599		2203	4299	6502	SO:0001583	missense	4914				activation of adenylate cyclase activity|activation of MAPKK activity|activation of phospholipase C activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development|phosphatidylinositol-mediated signaling|Ras protein signal transduction	endosome|integral to plasma membrane	ATP binding|neurotrophin receptor activity|transmembrane receptor protein serine/threonine kinase activity|transmembrane receptor protein tyrosine kinase activity	g.chr1:156843599G>A	Y09028	CCDS1161.1, CCDS30890.1, CCDS30891.1	1q21-q22	2014-09-17			ENSG00000198400	ENSG00000198400	2.7.10.1	"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	8031	protein-coding gene	gene with protein product	"high affinity nerve growth factor receptor"	191315				2869410	Standard	NM_001007792		Approved	TRK, TRKA, MTC	uc001fqh.1	P04629	OTTHUMG00000041304	ENST00000524377.1:c.1025G>A	1.37:g.156843599G>A	ENSP00000431418:p.Arg342Gln	TSP Lung(10;0.080)				NTRK1_ENST00000392302.2_Missense_Mutation_p.R312Q|NTRK1_ENST00000358660.3_Missense_Mutation_p.R342Q|NTRK1_ENST00000524377.1_Missense_Mutation_p.R342Q	p.R342Q	NM_001012331.1	NP_001012331.1	P04629	NTRK1_HUMAN			8	1145	+	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)		342			Ig-like C2-type 2.		B2R6T5|B7ZM34|P08119|Q15655|Q15656|Q5D056|Q5VZS2|Q7Z5C3|Q9UIU7	Missense_Mutation	SNP	ENST00000524377.1	37	c.1025G>A	CCDS1161.1	.	.	.	.	.	.	.	.	.	.	G	10.97	1.501462	0.26861	.	.	ENSG00000198400	ENST00000392302;ENST00000368196;ENST00000524377;ENST00000358660	T;T;T;T	0.29917	1.55;1.55;1.55;1.55	6.17	5.26	0.73747	Immunoglobulin-like fold (1);	0.119055	0.37955	N	0.001861	T	0.08268	0.0206	L	0.46157	1.445	0.09310	N	1	B;B;B;B	0.27882	0.037;0.192;0.116;0.189	B;B;B;B	0.14578	0.004;0.004;0.003;0.011	T	0.20438	-1.0275	10	0.11485	T	0.65	.	7.9711	0.30127	0.0753:0.0:0.6822:0.2425	.	342;342;342;312	A8K3Z4;P04629-2;P04629;A6NF12	.;.;NTRK1_HUMAN;.	Q	312;342;342;342	ENSP00000376120:R312Q;ENSP00000357179:R342Q;ENSP00000431418:R342Q;ENSP00000351486:R342Q	ENSP00000351486:R342Q	R	+	2	0	NTRK1	155110223	0.015000	0.18098	0.955000	0.39395	0.385000	0.30292	2.169000	0.42434	1.627000	0.50400	0.655000	0.94253	CGG		0.632	NTRK1-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000392279.1	NM_002529		8	19	0	0	0	1	0	8	19					A	156843599	G	A	156843599	3	1	435	1	0	0	0	0	1	0	0	0	10706	1116	39	2	1185	2	NTRK1	1	156843599	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	79131	156843599	92407022	637	21562											
NTRK1	4914	broad.mit.edu	37	chr1	156845889	156845889	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caggtgttcaccacatcaagCgccgggacatcgtgctcaag	10	7	11	13	3	3	0	3	0	0	0	4	1	3	1	2	2	2	2	2	2	2	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:156845889C>T	ENST00000524377.1	+	13	1560	c.1519C>T	c.(1519-1521)Cgc>Tgc	p.R507C	NTRK1_ENST00000392302.2_Missense_Mutation_p.R471C|NTRK1_ENST00000368196.3_Missense_Mutation_p.R501C|NTRK1_ENST00000358660.3_Missense_Mutation_p.R504C	NM_002529.3	NP_002520.2	P04629	NTRK1_HUMAN	neurotrophic tyrosine kinase, receptor, type 1	507					activation of adenylate cyclase activity (GO:0007190)|activation of MAPKK activity (GO:0000186)|activation of phospholipase C activity (GO:0007202)|aging (GO:0007568)|axon guidance (GO:0007411)|axonogenesis involved in innervation (GO:0060385)|B cell differentiation (GO:0030183)|cellular response to nerve growth factor stimulus (GO:1990090)|cellular response to nicotine (GO:0071316)|circadian rhythm (GO:0007623)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|developmental programmed cell death (GO:0010623)|learning or memory (GO:0007611)|mechanoreceptor differentiation (GO:0042490)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|olfactory nerve development (GO:0021553)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of angiogenesis (GO:0045766)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron projection development (GO:0010976)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of programmed cell death (GO:0043068)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Ras protein signal transduction (GO:0046579)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|Ras protein signal transduction (GO:0007265)|response to activity (GO:0014823)|response to axon injury (GO:0048678)|response to drug (GO:0042493)|response to electrical stimulus (GO:0051602)|response to ethanol (GO:0045471)|response to hydrostatic pressure (GO:0051599)|response to nutrient levels (GO:0031667)|response to radiation (GO:0009314)|Sertoli cell development (GO:0060009)|small GTPase mediated signal transduction (GO:0007264)|sympathetic nervous system development (GO:0048485)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	axon (GO:0030424)|cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|early endosome (GO:0005769)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|nerve growth factor binding (GO:0048406)|nerve growth factor receptor activity (GO:0010465)|neurotrophin binding (GO:0043121)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(35)|ovary(8)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	74	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)				Amitriptyline(DB00321)|Imatinib(DB00619)|Regorafenib(DB08896)	CCACATCAAGCGCCGGGACAT	0.627			T	"TPM3, TPR, TFG"	papillary thyroid					TSP Lung(10;0.080)																												ENST00000368196.3				Dom	yes		1	1q21-q22	4914	T	"neurotrophic tyrosine kinase, receptor, type 1"			E	"TPM3, TPR, TFG"		papillary thyroid		0				breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(35)|ovary(8)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	74						c.(1501-1503)Cgc>Tgc		neurotrophic tyrosine kinase, receptor, type 1	Imatinib(DB00619)						77	78	78					1																	156845889		2203	4300	6503	SO:0001583	missense	4914				activation of adenylate cyclase activity|activation of MAPKK activity|activation of phospholipase C activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development|phosphatidylinositol-mediated signaling|Ras protein signal transduction	endosome|integral to plasma membrane	ATP binding|neurotrophin receptor activity|transmembrane receptor protein serine/threonine kinase activity|transmembrane receptor protein tyrosine kinase activity	g.chr1:156845889C>T	Y09028	CCDS1161.1, CCDS30890.1, CCDS30891.1	1q21-q22	2014-09-17			ENSG00000198400	ENSG00000198400	2.7.10.1	"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	8031	protein-coding gene	gene with protein product	"high affinity nerve growth factor receptor"	191315				2869410	Standard	NM_001007792		Approved	TRK, TRKA, MTC	uc001fqh.1	P04629	OTTHUMG00000041304	ENST00000524377.1:c.1519C>T	1.37:g.156845889C>T	ENSP00000431418:p.Arg507Cys	TSP Lung(10;0.080)				NTRK1_ENST00000392302.2_Missense_Mutation_p.R471C|NTRK1_ENST00000358660.3_Missense_Mutation_p.R504C|NTRK1_ENST00000524377.1_Missense_Mutation_p.R507C	p.R501C	NM_001012331.1	NP_001012331.1	P04629	NTRK1_HUMAN			12	1621	+	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)		507					B2R6T5|B7ZM34|P08119|Q15655|Q15656|Q5D056|Q5VZS2|Q7Z5C3|Q9UIU7	Missense_Mutation	SNP	ENST00000524377.1	37	c.1501C>T	CCDS1161.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.183614	0.78677	.	.	ENSG00000198400	ENST00000392302;ENST00000368196;ENST00000524377;ENST00000358660	D;D;D;D	0.89617	-2.54;-2.54;-2.54;-2.54	5.03	5.03	0.67393	Protein kinase-like domain (1);	0.000000	0.64402	D	0.000018	D	0.93723	0.7994	M	0.77313	2.365	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.991;0.996;0.997;1.0	D	0.94191	0.7441	10	0.87932	D	0	.	17.097	0.86638	0.0:1.0:0.0:0.0	.	504;501;507;471	A8K3Z4;P04629-2;P04629;A6NF12	.;.;NTRK1_HUMAN;.	C	471;501;507;504	ENSP00000376120:R471C;ENSP00000357179:R501C;ENSP00000431418:R507C;ENSP00000351486:R504C	ENSP00000351486:R504C	R	+	1	0	NTRK1	155112513	0.995000	0.38212	1.000000	0.80357	0.995000	0.86356	0.499000	0.22546	2.619000	0.88677	0.462000	0.41574	CGC		0.627	NTRK1-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000392279.1	NM_002529		19	44	0	0	0	1	0	19	44					T	156845889	C	T	156845889	3	4	435	1	0	0	0	0	1	0	0	0	10706	768	27	1	1699	1	NTRK1	1	156845889	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	2290	156845889	92404732	638	21563											
NTRK1	4914	broad.mit.edu	37	chr1	156846280	156846280	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcagcaccagcacatcgtgcGcttcttcggcgtctgcaccg	6	8	11	16	5	2	0	0	0	2	0	4	0	2	0	2	1	4	5	2	1	0	2	rs554180226		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:156846280G>A	ENST00000524377.1	+	14	1762	c.1721G>A	c.(1720-1722)cGc>cAc	p.R574H	NTRK1_ENST00000392302.2_Missense_Mutation_p.R538H|NTRK1_ENST00000368196.3_Missense_Mutation_p.R568H|NTRK1_ENST00000358660.3_Missense_Mutation_p.R571H	NM_002529.3	NP_002520.2	P04629	NTRK1_HUMAN	neurotrophic tyrosine kinase, receptor, type 1	574	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of adenylate cyclase activity (GO:0007190)|activation of MAPKK activity (GO:0000186)|activation of phospholipase C activity (GO:0007202)|aging (GO:0007568)|axon guidance (GO:0007411)|axonogenesis involved in innervation (GO:0060385)|B cell differentiation (GO:0030183)|cellular response to nerve growth factor stimulus (GO:1990090)|cellular response to nicotine (GO:0071316)|circadian rhythm (GO:0007623)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|developmental programmed cell death (GO:0010623)|learning or memory (GO:0007611)|mechanoreceptor differentiation (GO:0042490)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|olfactory nerve development (GO:0021553)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of angiogenesis (GO:0045766)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron projection development (GO:0010976)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of programmed cell death (GO:0043068)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Ras protein signal transduction (GO:0046579)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|Ras protein signal transduction (GO:0007265)|response to activity (GO:0014823)|response to axon injury (GO:0048678)|response to drug (GO:0042493)|response to electrical stimulus (GO:0051602)|response to ethanol (GO:0045471)|response to hydrostatic pressure (GO:0051599)|response to nutrient levels (GO:0031667)|response to radiation (GO:0009314)|Sertoli cell development (GO:0060009)|small GTPase mediated signal transduction (GO:0007264)|sympathetic nervous system development (GO:0048485)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	axon (GO:0030424)|cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|early endosome (GO:0005769)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|nerve growth factor binding (GO:0048406)|nerve growth factor receptor activity (GO:0010465)|neurotrophin binding (GO:0043121)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(35)|ovary(8)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	74	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)				Amitriptyline(DB00321)|Imatinib(DB00619)|Regorafenib(DB08896)	CACATCGTGCGCTTCTTCGGC	0.642			T	"TPM3, TPR, TFG"	papillary thyroid					TSP Lung(10;0.080)			G|||	1	0.000199681	0	0	5008	,	,		16917	0		0	False		,,,				2504	0.001					ENST00000368196.3				Dom	yes		1	1q21-q22	4914	T	"neurotrophic tyrosine kinase, receptor, type 1"			E	"TPM3, TPR, TFG"		papillary thyroid		0				breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(35)|ovary(8)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	74						c.(1702-1704)cGc>cAc		neurotrophic tyrosine kinase, receptor, type 1	Imatinib(DB00619)						46	41	43					1																	156846280		2203	4300	6503	SO:0001583	missense	4914				activation of adenylate cyclase activity|activation of MAPKK activity|activation of phospholipase C activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development|phosphatidylinositol-mediated signaling|Ras protein signal transduction	endosome|integral to plasma membrane	ATP binding|neurotrophin receptor activity|transmembrane receptor protein serine/threonine kinase activity|transmembrane receptor protein tyrosine kinase activity	g.chr1:156846280G>A	Y09028	CCDS1161.1, CCDS30890.1, CCDS30891.1	1q21-q22	2014-09-17			ENSG00000198400	ENSG00000198400	2.7.10.1	"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	8031	protein-coding gene	gene with protein product	"high affinity nerve growth factor receptor"	191315				2869410	Standard	NM_001007792		Approved	TRK, TRKA, MTC	uc001fqh.1	P04629	OTTHUMG00000041304	ENST00000524377.1:c.1721G>A	1.37:g.156846280G>A	ENSP00000431418:p.Arg574His	TSP Lung(10;0.080)				NTRK1_ENST00000392302.2_Missense_Mutation_p.R538H|NTRK1_ENST00000358660.3_Missense_Mutation_p.R571H|NTRK1_ENST00000524377.1_Missense_Mutation_p.R574H	p.R568H	NM_001012331.1	NP_001012331.1	P04629	NTRK1_HUMAN			13	1823	+	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)		574			Protein kinase.		B2R6T5|B7ZM34|P08119|Q15655|Q15656|Q5D056|Q5VZS2|Q7Z5C3|Q9UIU7	Missense_Mutation	SNP	ENST00000524377.1	37	c.1703G>A	CCDS1161.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.374988	0.82573	.	.	ENSG00000198400	ENST00000392302;ENST00000368196;ENST00000524377;ENST00000358660	D;D;D;D	0.90197	-2.63;-2.63;-2.63;-2.63	5.27	5.27	0.74061	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.124856	0.35407	N	0.003233	D	0.91355	0.7273	L	0.56124	1.755	0.42336	D	0.992319	D;D;D;D	0.89917	0.998;0.976;1.0;1.0	D;B;D;D	0.78314	0.973;0.422;0.98;0.991	D	0.91675	0.5353	10	0.72032	D	0.01	.	7.8463	0.29426	0.1656:0.0:0.8344:0.0	.	571;568;574;538	A8K3Z4;P04629-2;P04629;A6NF12	.;.;NTRK1_HUMAN;.	H	538;568;574;571	ENSP00000376120:R538H;ENSP00000357179:R568H;ENSP00000431418:R574H;ENSP00000351486:R571H	ENSP00000351486:R571H	R	+	2	0	NTRK1	155112904	0.393000	0.25237	1.000000	0.80357	0.993000	0.82548	2.137000	0.42130	2.746000	0.94184	0.561000	0.74099	CGC		0.642	NTRK1-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000392279.1	NM_002529		12	21	0	0	0	1	0	12	21					A	156846280	G	A	156846280	3	1	435	1	0	0	0	0	1	0	0	0	10706	1087	38	1	1905	1	NTRK1	1	156846280	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	391	156846280	92404341	639	21564											
NTRK1	4914	broad.mit.edu	37	chr1	156846355	156846355	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcggcacggggacctcaaccGcttcctccggtaccagcacc	7	5	11	18	4	1	0	1	0	0	0	3	1	3	1	6	4	3	4	6	4	2	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:156846355G>A	ENST00000524377.1	+	14	1837	c.1796G>A	c.(1795-1797)cGc>cAc	p.R599H	NTRK1_ENST00000392302.2_Missense_Mutation_p.R563H|NTRK1_ENST00000368196.3_Missense_Mutation_p.R593H|NTRK1_ENST00000358660.3_Missense_Mutation_p.R596H	NM_002529.3	NP_002520.2	P04629	NTRK1_HUMAN	neurotrophic tyrosine kinase, receptor, type 1	599	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of adenylate cyclase activity (GO:0007190)|activation of MAPKK activity (GO:0000186)|activation of phospholipase C activity (GO:0007202)|aging (GO:0007568)|axon guidance (GO:0007411)|axonogenesis involved in innervation (GO:0060385)|B cell differentiation (GO:0030183)|cellular response to nerve growth factor stimulus (GO:1990090)|cellular response to nicotine (GO:0071316)|circadian rhythm (GO:0007623)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|developmental programmed cell death (GO:0010623)|learning or memory (GO:0007611)|mechanoreceptor differentiation (GO:0042490)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|olfactory nerve development (GO:0021553)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of angiogenesis (GO:0045766)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron projection development (GO:0010976)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of programmed cell death (GO:0043068)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Ras protein signal transduction (GO:0046579)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|Ras protein signal transduction (GO:0007265)|response to activity (GO:0014823)|response to axon injury (GO:0048678)|response to drug (GO:0042493)|response to electrical stimulus (GO:0051602)|response to ethanol (GO:0045471)|response to hydrostatic pressure (GO:0051599)|response to nutrient levels (GO:0031667)|response to radiation (GO:0009314)|Sertoli cell development (GO:0060009)|small GTPase mediated signal transduction (GO:0007264)|sympathetic nervous system development (GO:0048485)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	axon (GO:0030424)|cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|early endosome (GO:0005769)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|nerve growth factor binding (GO:0048406)|nerve growth factor receptor activity (GO:0010465)|neurotrophin binding (GO:0043121)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(35)|ovary(8)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	74	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)				Amitriptyline(DB00321)|Imatinib(DB00619)|Regorafenib(DB08896)	GACCTCAACCGCTTCCTCCGG	0.637			T	"TPM3, TPR, TFG"	papillary thyroid					TSP Lung(10;0.080)																												ENST00000368196.3				Dom	yes		1	1q21-q22	4914	T	"neurotrophic tyrosine kinase, receptor, type 1"			E	"TPM3, TPR, TFG"		papillary thyroid		0				breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(35)|ovary(8)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	74						c.(1777-1779)cGc>cAc		neurotrophic tyrosine kinase, receptor, type 1	Imatinib(DB00619)						20	19	19					1																	156846355		2203	4295	6498	SO:0001583	missense	4914				activation of adenylate cyclase activity|activation of MAPKK activity|activation of phospholipase C activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development|phosphatidylinositol-mediated signaling|Ras protein signal transduction	endosome|integral to plasma membrane	ATP binding|neurotrophin receptor activity|transmembrane receptor protein serine/threonine kinase activity|transmembrane receptor protein tyrosine kinase activity	g.chr1:156846355G>A	Y09028	CCDS1161.1, CCDS30890.1, CCDS30891.1	1q21-q22	2014-09-17			ENSG00000198400	ENSG00000198400	2.7.10.1	"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	8031	protein-coding gene	gene with protein product	"high affinity nerve growth factor receptor"	191315				2869410	Standard	NM_001007792		Approved	TRK, TRKA, MTC	uc001fqh.1	P04629	OTTHUMG00000041304	ENST00000524377.1:c.1796G>A	1.37:g.156846355G>A	ENSP00000431418:p.Arg599His	TSP Lung(10;0.080)				NTRK1_ENST00000392302.2_Missense_Mutation_p.R563H|NTRK1_ENST00000358660.3_Missense_Mutation_p.R596H|NTRK1_ENST00000524377.1_Missense_Mutation_p.R599H	p.R593H	NM_001012331.1	NP_001012331.1	P04629	NTRK1_HUMAN			13	1898	+	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)		599			Protein kinase.		B2R6T5|B7ZM34|P08119|Q15655|Q15656|Q5D056|Q5VZS2|Q7Z5C3|Q9UIU7	Missense_Mutation	SNP	ENST00000524377.1	37	c.1778G>A	CCDS1161.1	.	.	.	.	.	.	.	.	.	.	G	24.1	4.493508	0.84962	.	.	ENSG00000198400	ENST00000392302;ENST00000368196;ENST00000524377;ENST00000358660	D;D;D;D	0.89123	-2.47;-2.47;-2.47;-2.47	5.27	5.27	0.74061	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	D	0.000012	D	0.86944	0.6055	N	0.11651	0.15	0.54753	D	0.999988	P;B;D;D	0.89917	0.462;0.441;1.0;1.0	B;B;D;D	0.74674	0.244;0.103;0.984;0.976	D	0.90388	0.4393	10	0.87932	D	0	.	17.6171	0.88070	0.0:0.0:1.0:0.0	.	596;593;599;563	A8K3Z4;P04629-2;P04629;A6NF12	.;.;NTRK1_HUMAN;.	H	563;593;599;596	ENSP00000376120:R563H;ENSP00000357179:R593H;ENSP00000431418:R599H;ENSP00000351486:R596H	ENSP00000351486:R596H	R	+	2	0	NTRK1	155112979	0.779000	0.28652	1.000000	0.80357	0.971000	0.66376	1.502000	0.35704	2.746000	0.94184	0.561000	0.74099	CGC		0.637	NTRK1-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000392279.1	NM_002529		7	9	0	0	0	1	0	7	9					A	156846355	G	A	156846355	3	1	435	1	0	0	0	0	1	0	0	0	10706	1087	38	1	1980	1	NTRK1	1	156846355	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	75	156846355	92404266	640	21565											
PEAR1	375033	broad.mit.edu	37	chr1	156878721	156878721	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctttcagggccctcactgtgCtagtctttgtcctcctgaca	5	14	8	14	0	3	1	2	1	1	0	5	1	5	1	3	1	1	1	3	1	1	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:156878721C>G	ENST00000338302.3	+	12	1529	c.1304C>G	c.(1303-1305)gCt>gGt	p.A435G	PEAR1_ENST00000292357.7_Missense_Mutation_p.A435G			Q5VY43	PEAR1_HUMAN	platelet endothelial aggregation receptor 1	435	EGF-like 5. {ECO:0000255|PROSITE- ProRule:PRU00076}.				recognition of apoptotic cell (GO:0043654)	integral component of membrane (GO:0016021)|phagocytic cup (GO:0001891)				breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(6)|lung(22)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)	43	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					CCTCACTGTGCTAGTCTTTGT	0.627																																						ENST00000338302.3																			0				breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(6)|lung(22)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)	43						c.(1303-1305)gCt>gGt		platelet endothelial aggregation receptor 1							115	87	97					1																	156878721		2203	4300	6503	SO:0001583	missense	375033					integral to membrane		g.chr1:156878721C>G	AK098809	CCDS30892.1	1q23.1	2008-02-05	2007-10-25	2007-10-25	ENSG00000187800	ENSG00000187800			33631	protein-coding gene	gene with protein product		610278	"multiple EGF-like-domains 12"	MEGF12		15851471	Standard	NM_001080471		Approved	JEDI, FLJ00193	uc001fqj.1	Q5VY43	OTTHUMG00000041293	ENST00000338302.3:c.1304C>G	1.37:g.156878721C>G	ENSP00000344465:p.Ala435Gly					PEAR1_ENST00000292357.7_Missense_Mutation_p.A435G	p.A435G			Q5VY43	PEAR1_HUMAN			12	1529	+	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)		435			EGF-like 5.		Q8TEK2	Missense_Mutation	SNP	ENST00000338302.3	37	c.1304C>G	CCDS30892.1	.	.	.	.	.	.	.	.	.	.	C	13.65	2.299613	0.40694	.	.	ENSG00000187800	ENST00000338302;ENST00000292357	T;T	0.33216	1.42;1.42	4.87	3.93	0.45458	Epidermal growth factor-like (1);EGF-like region, conserved site (1);Epidermal growth factor-like, type 3 (1);	0.299368	0.24052	N	0.041984	T	0.09423	0.0232	N	0.26130	0.795	0.32207	N	0.577034	P;B	0.38863	0.65;0.376	B;B	0.35899	0.213;0.164	T	0.09400	-1.0676	10	0.32370	T	0.25	.	12.036	0.53425	0.1739:0.8261:0.0:0.0	.	236;435	Q8N780;Q5VY43	.;PEAR1_HUMAN	G	435	ENSP00000344465:A435G;ENSP00000292357:A435G	ENSP00000292357:A435G	A	+	2	0	PEAR1	155145345	0.608000	0.26966	0.971000	0.41717	0.725000	0.41563	1.796000	0.38794	1.212000	0.43366	0.563000	0.77884	GCT		0.627	PEAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098937.2	NM_001080471		18	20	0	0	0	1	0	18	20					G	156878721	C	G	156878721	3	3	435	1	0	0	0	0	1	0	0	0	11712	797	28	5	1342	5	PEAR1	1	156878721	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	32366	156878721	92371900	641	21566											
ARHGEF11	9826	broad.mit.edu	37	chr1	156918209	156918209	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcactgcgagagcggggcacGttctctgcctttcgagaccg	6	9	13	13	5	2	2	1	0	1	2	4	4	2	2	2	2	3	2	2	2	0	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:156918209G>A	ENST00000361409.2	-	22	2629	c.1887C>T	c.(1885-1887)aaC>aaT	p.N629N	ARHGEF11_ENST00000368194.3_Silent_p.N669N|ARHGEF11_ENST00000315174.8_Silent_p.N45N|ARHGEF11_ENST00000487682.1_5'Flank	NM_014784.3	NP_055599.1	O15085	ARHGB_HUMAN	Rho guanine nucleotide exchange factor (GEF) 11	629					actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|cellular component movement (GO:0006928)|cytokinesis (GO:0000910)|establishment of cell polarity (GO:0030010)|G-protein coupled receptor signaling pathway (GO:0007186)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell growth (GO:0001558)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)|striated muscle contraction (GO:0006941)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular (GO:0005622)|membrane (GO:0016020)	G-protein coupled receptor binding (GO:0001664)|GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(27)|ovary(4)|pancreas(2)|pleura(1)|prostate(4)|skin(7)|stomach(1)|urinary_tract(2)	81	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					AGCGGGGCACGTTCTCTGCCT	0.602																																						ENST00000368194.3																			0				NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(27)|ovary(4)|pancreas(2)|pleura(1)|prostate(4)|skin(7)|stomach(1)|urinary_tract(2)	81						c.(2005-2007)aaC>aaT		Rho guanine nucleotide exchange factor (GEF) 11							101	85	91					1																	156918209		2203	4300	6503	SO:0001819	synonymous_variant	9826				actin cytoskeleton organization|apoptosis|axon guidance|cellular component movement|cytokinesis|establishment of cell polarity|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cell growth|regulation of Rho protein signal transduction|Rho protein signal transduction|striated muscle contraction	cytosol|Golgi apparatus|plasma membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|signal transducer activity	g.chr1:156918209G>A	AB002378	CCDS1162.1, CCDS1163.1	1q21	2011-11-16			ENSG00000132694	ENSG00000132694		"Rho guanine nucleotide exchange factors"	14580	protein-coding gene	gene with protein product		605708				10526156, 9205841	Standard	NM_014784		Approved	KIAA0380, GTRAP48, PDZ-RHOGEF	uc001fqn.3	O15085	OTTHUMG00000041292	ENST00000361409.2:c.1887C>T	1.37:g.156918209G>A						ARHGEF11_ENST00000361409.2_Silent_p.N629N|ARHGEF11_ENST00000315174.8_Silent_p.N45N	p.N669N	NM_198236.2	NP_937879.1	O15085	ARHGB_HUMAN			23	3046	-	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)		629					D3DVD0|Q5VY40|Q6PFW2	Silent	SNP	ENST00000361409.2	37	c.2007C>T	CCDS1162.1																																																																																				0.602	ARHGEF11-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000098931.1	NM_198236		24	24	0	0	0	1	0	24	24					A	156918209	G	A	156918209	2	1	435	1	0	0	0	0	0	0	0	1	896	1136	40	1		1	ARHGEF11	1	156918209	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	39488	156918209	92332412	642	21567											
FCRL5	83416	broad.mit.edu	37	chr1	157504575	157504575	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctcatgataaaactggtataGgatttgtggggaacctctct	11	13	10	7	0	2	1	1	1	1	0	3	3	2	3	1	4	2	1	1	4	5	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:157504575G>T	ENST00000361835.3	-	8	1667	c.1510C>A	c.(1510-1512)Cta>Ata	p.L504I	FCRL5_ENST00000368189.3_Missense_Mutation_p.L504I|FCRL5_ENST00000356953.4_Missense_Mutation_p.L504I|FCRL5_ENST00000368190.3_Missense_Mutation_p.L504I|FCRL5_ENST00000368191.3_Missense_Mutation_p.L419I	NM_001195388.1|NM_031281.2	NP_001182317.1|NP_112571.2	Q96RD9	FCRL5_HUMAN	Fc receptor-like 5	504	Ig-like C2-type 5.				negative regulation of B cell receptor signaling pathway (GO:0050859)|negative regulation of release of sequestered calcium ion into cytosol (GO:0051280)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)				breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	85	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)				AACTGGTATAGGATTTGTGGG	0.522																																						ENST00000361835.3																			0				breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	85						c.(1510-1512)Cta>Ata		Fc receptor-like 5							59	57	58					1																	157504575		2203	4300	6503	SO:0001583	missense	83416					integral to membrane|plasma membrane	receptor activity	g.chr1:157504575G>T	AF369794	CCDS1165.1	1q21	2013-01-11			ENSG00000143297	ENSG00000143297		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	18508	protein-coding gene	gene with protein product		605877				11027651, 11290337	Standard	NM_031281		Approved	FCRH5, IRTA2, BXMAS1, CD307e	uc009wsm.3	Q96RD9	OTTHUMG00000017481	ENST00000361835.3:c.1510C>A	1.37:g.157504575G>T	ENSP00000354691:p.Leu504Ile					FCRL5_ENST00000368189.3_Missense_Mutation_p.L504I|FCRL5_ENST00000368191.3_Missense_Mutation_p.L419I|FCRL5_ENST00000356953.4_Missense_Mutation_p.L504I|FCRL5_ENST00000368190.3_Missense_Mutation_p.L504I	p.L504I	NM_001195388.1|NM_031281.2	NP_001182317.1|NP_112571.2	Q96RD9	FCRL5_HUMAN			8	1667	-	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)	504			Ig-like C2-type 5.		A0N0M2|B7WNT9|B7WP94|Q495Q2|Q495Q4|Q5VYK9|Q6UY46	Missense_Mutation	SNP	ENST00000361835.3	37	c.1510C>A	CCDS1165.1	.	.	.	.	.	.	.	.	.	.	G	10.84	1.464888	0.26335	.	.	ENSG00000143297	ENST00000361835;ENST00000356953;ENST00000368190;ENST00000368191;ENST00000368189	T;T;T;T;T	0.12465	2.68;2.68;2.68;2.68;2.68	3.54	-1.92	0.07618	Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.17066	0.0410	M	0.85197	2.74	0.09310	N	1	D;P;D;D;D;D	0.76494	0.999;0.878;0.959;0.985;0.97;0.993	D;B;P;P;P;P	0.74674	0.984;0.441;0.835;0.884;0.878;0.884	T	0.04509	-1.0946	9	0.37606	T	0.19	.	4.0991	0.10005	0.4961:0.1896:0.3142:0.0	.	535;419;504;504;504;504	B4DW39;F5GXJ2;Q96RD9-3;A6NJE8;Q96RD9-4;Q96RD9	.;.;.;.;.;FCRL5_HUMAN	I	504;504;504;419;504	ENSP00000354691:L504I;ENSP00000349434:L504I;ENSP00000357173:L504I;ENSP00000357174:L419I;ENSP00000357172:L504I	ENSP00000349434:L504I	L	-	1	2	FCRL5	155771199	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-0.621000	0.05559	-0.257000	0.09459	-0.656000	0.03901	CTA		0.522	FCRL5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000046263.1	NM_031281		14	16	1	0	0.00244969	1	0.00248438	14	16					T	157504575	G	T	157504575	3	4	435	1	0	0	0	0	1	0	0	0	5798	991	35	5	1463	5	FCRL5	1	157504575	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	586366	157504575	91746046	643	21568											
FCRL5	83416	broad.mit.edu	37	chr1	157509011	157509011	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgcagagttggccgacctacGctccagggcagcaccctcat	8	7	11	15	2	1	1	1	0	0	1	2	2	2	1	4	2	3	5	4	2	1	2	rs149262706	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:157509011G>A	ENST00000361835.3	-	7	1424	c.1267C>T	c.(1267-1269)Cgt>Tgt	p.R423C	FCRL5_ENST00000368189.3_Missense_Mutation_p.R423C|FCRL5_ENST00000356953.4_Missense_Mutation_p.R423C|FCRL5_ENST00000368190.3_Missense_Mutation_p.R423C|FCRL5_ENST00000368191.3_Missense_Mutation_p.R338C	NM_001195388.1|NM_031281.2	NP_001182317.1|NP_112571.2	Q96RD9	FCRL5_HUMAN	Fc receptor-like 5	423	Ig-like C2-type 4.				negative regulation of B cell receptor signaling pathway (GO:0050859)|negative regulation of release of sequestered calcium ion into cytosol (GO:0051280)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)				breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	85	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)				GCCGACCTACGCTCCAGGGCA	0.552																																						ENST00000361835.3																			0				breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	85						c.(1267-1269)Cgt>Tgt		Fc receptor-like 5		G	CYS/ARG,CYS/ARG	0,4406		0,0,2203	79	69	72		1267,1267	0.8	0	1	dbSNP_134	72	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	FCRL5	NM_001195388.1,NM_031281.2	180,180	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging	423/999,423/978	157509011	1,13005	2203	4300	6503	SO:0001583	missense	83416					integral to membrane|plasma membrane	receptor activity	g.chr1:157509011G>A	AF369794	CCDS1165.1	1q21	2013-01-11			ENSG00000143297	ENSG00000143297		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	18508	protein-coding gene	gene with protein product		605877				11027651, 11290337	Standard	NM_031281		Approved	FCRH5, IRTA2, BXMAS1, CD307e	uc009wsm.3	Q96RD9	OTTHUMG00000017481	ENST00000361835.3:c.1267C>T	1.37:g.157509011G>A	ENSP00000354691:p.Arg423Cys					FCRL5_ENST00000368189.3_Missense_Mutation_p.R423C|FCRL5_ENST00000368191.3_Missense_Mutation_p.R338C|FCRL5_ENST00000356953.4_Missense_Mutation_p.R423C|FCRL5_ENST00000368190.3_Missense_Mutation_p.R423C	p.R423C	NM_001195388.1|NM_031281.2	NP_001182317.1|NP_112571.2	Q96RD9	FCRL5_HUMAN			7	1424	-	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)	423			Ig-like C2-type 4.		A0N0M2|B7WNT9|B7WP94|Q495Q2|Q495Q4|Q5VYK9|Q6UY46	Missense_Mutation	SNP	ENST00000361835.3	37	c.1267C>T	CCDS1165.1	.	.	.	.	.	.	.	.	.	.	G	12.52	1.963842	0.34659	0.0	1.16E-4	ENSG00000143297	ENST00000361835;ENST00000356953;ENST00000368190;ENST00000368191;ENST00000368189	T;T;T;T;T	0.12569	2.67;2.67;2.67;2.67;2.67	3.17	0.754	0.18410	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	6.421730	0.00397	N	0.000056	T	0.14270	0.0345	M	0.64404	1.975	0.09310	N	1	D;D;D;D;D;D	0.76494	0.999;0.992;0.995;0.996;0.995;0.999	P;P;P;P;P;P	0.61658	0.821;0.599;0.701;0.892;0.663;0.761	T	0.04333	-1.0959	10	0.66056	D	0.02	.	3.4867	0.07622	0.0:0.1311:0.235:0.6339	.	454;338;423;423;423;423	B4DW39;F5GXJ2;Q96RD9-3;A6NJE8;Q96RD9-4;Q96RD9	.;.;.;.;.;FCRL5_HUMAN	C	423;423;423;338;423	ENSP00000354691:R423C;ENSP00000349434:R423C;ENSP00000357173:R423C;ENSP00000357174:R338C;ENSP00000357172:R423C	ENSP00000349434:R423C	R	-	1	0	FCRL5	155775635	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.356000	0.07661	0.034000	0.15491	-0.546000	0.04227	CGT		0.552	FCRL5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000046263.1	NM_031281		10	4	0	0	0	1	0	10	4					A	157509011	G	A	157509011	3	1	435	1	0	0	0	0	1	0	0	0	5798	1087	38	1	1710	1	FCRL5	1	157509011	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	4436	157509011	91741610	644	21569											
FCRL1	115350	broad.mit.edu	37	chr1	157771295	157771295	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	aaaataataaggccacggtgGctggaccaagggtgctgagc	13	6	14	8	1	0	1	0	1	0	0	0	2	0	2	2	5	2	2	2	5	5	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:157771295G>A	ENST00000368176.3	-	6	1026	c.959C>T	c.(958-960)gCc>gTc	p.A320V	FCRL1_ENST00000358292.3_Intron|FCRL1_ENST00000489998.1_Intron|FCRL1_ENST00000491942.1_Missense_Mutation_p.A320V	NM_001159398.1|NM_052938.4	NP_001152870.1|NP_443170.1	Q96LA6	FCRL1_HUMAN	Fc receptor-like 1	320						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(24)|ovary(4)|prostate(1)|skin(6)	42	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			GGCCACGGTGGCTGGACCAAG	0.458																																					GBM(54;482 1003 11223 30131 35730)	ENST00000368176.3																			0				breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(24)|ovary(4)|prostate(1)|skin(6)	42						c.(958-960)gCc>gTc		Fc receptor-like 1							73	75	74					1																	157771295		2203	4300	6503	SO:0001583	missense	115350					integral to membrane|plasma membrane	receptor activity	g.chr1:157771295G>A	BC033690	CCDS1170.1, CCDS53382.1, CCDS53383.1	1q21-q22	2013-01-14			ENSG00000163534	ENSG00000163534		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	18509	protein-coding gene	gene with protein product		606508				11493702, 11929751	Standard	NM_052938		Approved	FCRH1, IRTA5, IFGP1, CD307a	uc001frg.3	Q96LA6	OTTHUMG00000019398	ENST00000368176.3:c.959C>T	1.37:g.157771295G>A	ENSP00000357158:p.Ala320Val					FCRL1_ENST00000489998.1_Intron|FCRL1_ENST00000358292.3_Intron|FCRL1_ENST00000491942.1_Missense_Mutation_p.A320V	p.A320V	NM_001159398.1|NM_052938.4	NP_001152870.1|NP_443170.1	Q96LA6	FCRL1_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.24)		6	1026	-	all_hematologic(112;0.0378)		320					B2RE05|Q8N759|Q8NDI0|Q96PJ6	Missense_Mutation	SNP	ENST00000368176.3	37	c.959C>T	CCDS1170.1	.	.	.	.	.	.	.	.	.	.	G	4.840	0.156109	0.09236	.	.	ENSG00000163534	ENST00000368176;ENST00000491942	T;T	0.42900	0.96;0.99	5.25	-7.24	0.01475	.	2.421730	0.01238	N	0.008528	T	0.08447	0.0210	N	0.21097	0.63	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.04976	-1.0914	10	0.18276	T	0.48	.	7.9877	0.30222	0.5936:0.2232:0.1831:0.0	.	320;320	Q96LA6-2;Q96LA6	.;FCRL1_HUMAN	V	320	ENSP00000357158:A320V;ENSP00000418130:A320V	ENSP00000357158:A320V	A	-	2	0	FCRL1	156037919	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.793000	0.04589	-1.562000	0.01682	-0.812000	0.03155	GCC		0.458	FCRL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051401.1	NM_052938		19	34	0	0	0	1	0	19	34					A	157771295	G	A	157771295	3	1	435	1	0	0	0	0	1	0	0	0	5794	1203	42	3	420	3	FCRL1	1	157771295	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	262284	157771295	91479326	645	21570											
CD1D	912	broad.mit.edu	37	chr1	158151319	158151319	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcagctggacgcgcaccgacGgcttggcgtggctgggggag	5	5	20	11	5	0	0	0	0	0	0	0	3	0	2	1	6	1	5	1	6	0	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:158151319G>A	ENST00000368171.3	+	3	635	c.136G>A	c.(136-138)Ggc>Agc	p.G46S		NM_001766.3	NP_001757.1	P15813	CD1D_HUMAN	CD1d molecule	46					antigen processing and presentation, endogenous lipid antigen via MHC class Ib (GO:0048006)|detection of bacterium (GO:0016045)|heterotypic cell-cell adhesion (GO:0034113)|innate immune response (GO:0045087)|positive regulation of innate immune response (GO:0045089)|positive regulation of T cell proliferation (GO:0042102)|T cell selection (GO:0045058)|viral process (GO:0016032)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)	beta-2-microglobulin binding (GO:0030881)|cell adhesion molecule binding (GO:0050839)|exogenous lipid antigen binding (GO:0030884)|histone binding (GO:0042393)|lipid antigen binding (GO:0030882)|receptor activity (GO:0004872)			endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(1)|prostate(3)|urinary_tract(2)	30	all_hematologic(112;0.0378)					GCGCACCGACGGCTTGGCGTG	0.637																																						ENST00000368171.3																			0				endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(1)|prostate(3)|urinary_tract(2)	30						c.(136-138)Ggc>Agc		CD1d molecule							114	127	123					1																	158151319		2203	4300	6503	SO:0001583	missense	912				antigen processing and presentation, endogenous lipid antigen via MHC class Ib|detection of bacterium|innate immune response|interspecies interaction between organisms|positive regulation of innate immune response|T cell selection	endosome membrane|integral to plasma membrane|lysosomal membrane	beta-2-microglobulin binding|exogenous lipid antigen binding|histone binding	g.chr1:158151319G>A	BC027926	CCDS1173.1	1q23.1	2014-01-14	2006-03-28		ENSG00000158473	ENSG00000158473		"CD molecules", "Immunoglobulin superfamily / C1-set domain containing"	1637	protein-coding gene	gene with protein product		188410	"CD1D antigen, d polypeptide", "CD1d antigen"			2463622	Standard	NM_001766		Approved		uc001frr.3	P15813	OTTHUMG00000022436	ENST00000368171.3:c.136G>A	1.37:g.158151319G>A	ENSP00000357153:p.Gly46Ser						p.G46S	NM_001766.3	NP_001757.1	P15813	CD1D_HUMAN			3	635	+	all_hematologic(112;0.0378)		46					D3DVD5|Q5W0J3|Q9UMM3|Q9Y5M4	Missense_Mutation	SNP	ENST00000368171.3	37	c.136G>A	CCDS1173.1	.	.	.	.	.	.	.	.	.	.	G	16.93	3.257100	0.59321	.	.	ENSG00000158473	ENST00000368171	T	0.14640	2.49	4.44	-1.63	0.08345	MHC classes I/II-like antigen recognition protein (1);MHC class I-like antigen recognition (1);	0.991118	0.08194	N	0.983361	T	0.03783	0.0107	L	0.41710	1.295	0.09310	N	1	P	0.49559	0.925	B	0.42282	0.382	T	0.37502	-0.9703	10	0.31617	T	0.26	-0.5456	7.4421	0.27190	0.0938:0.0:0.2371:0.6691	.	46	P15813	CD1D_HUMAN	S	46	ENSP00000357153:G46S	ENSP00000357153:G46S	G	+	1	0	CD1D	156417943	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.232000	0.17891	-0.412000	0.07519	0.655000	0.94253	GGC		0.637	CD1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058340.1	NM_001766		46	103	0	0	0	1	0	46	103					A	158151319	G	A	158151319	3	1	435	1	0	0	0	0	1	0	0	0	2977	1116	39	2	142	2	CD1D	1	158151319	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	380024	158151319	91099302	646	21571											
CD1B	910	broad.mit.edu	37	chr1	158301201	158301201	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	aacagctaacagttgaaatgGcagcagcagcatttcactgg	14	8	10	9	0	1	1	1	1	0	0	1	1	1	1	0	2	6	6	0	2	3	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:158301201G>A	ENST00000368168.3	-	1	120	c.13C>T	c.(13-15)Cca>Tca	p.P5S		NM_001764.2	NP_001755.1	P29016	CD1B_HUMAN	CD1b molecule	5					antigen processing and presentation (GO:0019882)|immune response (GO:0006955)	cell surface (GO:0009986)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|plasma membrane (GO:0005886)				breast(2)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	30	all_hematologic(112;0.0378)					AGTTGAAATGGCAGCAGCAGC	0.468																																						ENST00000368168.3																			0				breast(2)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	30						c.(13-15)Cca>Tca		CD1b molecule							74	67	69					1																	158301201		2203	4300	6503	SO:0001583	missense	910				antigen processing and presentation|immune response	endosome membrane|integral to membrane|lysosomal membrane|plasma membrane	protein binding	g.chr1:158301201G>A	M28826	CCDS1176.1	1q23.1	2014-01-14	2006-03-28		ENSG00000158485	ENSG00000158485		"CD molecules", "Immunoglobulin superfamily / C1-set domain containing"	1635	protein-coding gene	gene with protein product		188360	"CD1B antigen, b polypeptide", "CD1b antigen"	CD1		2447586	Standard	NM_001764		Approved		uc001frx.3	P29016	OTTHUMG00000017513	ENST00000368168.3:c.13C>T	1.37:g.158301201G>A	ENSP00000357150:p.Pro5Ser						p.P5S	NM_001764.2	NP_001755.1	P29016	CD1B_HUMAN			1	120	-	all_hematologic(112;0.0378)		5					Q5TDK9|Q5TDL0|Q9UMM2	Missense_Mutation	SNP	ENST00000368168.3	37	c.13C>T	CCDS1176.1	.	.	.	.	.	.	.	.	.	.	G	12.17	1.856745	0.32791	.	.	ENSG00000158485	ENST00000368168	T	0.01272	5.07	3.14	0.0583	0.14327	.	1.570510	0.04529	N	0.386086	T	0.00845	0.0028	M	0.70275	2.135	0.09310	N	1	P;B	0.39883	0.693;0.01	B;B	0.39258	0.295;0.005	T	0.42531	-0.9446	10	0.56958	D	0.05	4.2423	3.5154	0.07723	0.247:0.2135:0.5395:0.0	.	5;5	B4E0D2;P29016	.;CD1B_HUMAN	S	5	ENSP00000357150:P5S	ENSP00000357150:P5S	P	-	1	0	CD1B	156567825	0.000000	0.05858	0.005000	0.12908	0.670000	0.39368	-0.320000	0.08028	0.017000	0.15025	0.650000	0.86243	CCA		0.468	CD1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046350.2	NM_001764		9	22	0	0	0	1	0	9	22					A	158301201	G	A	158301201	3	1	435	1	0	0	0	0	1	0	0	0	2975	1203	42	3	1012	3	CD1B	1	158301201	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	149882	158301201	90949420	647	21572											
OR10K2	391107	broad.mit.edu	37	chr1	158390557	158390557	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcccagagtgaacaggtagaGgagcaggaagataacaaaga	18	3	14	6	0	0	5	0	1	0	4	0	7	0	7	1	3	3	2	1	3	5	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:158390557G>T	ENST00000314902.2	-	1	99	c.100C>A	c.(100-102)Ctc>Atc	p.L34I		NM_001004476.1	NP_001004476.1	Q6IF99	O10K2_HUMAN	olfactory receptor, family 10, subfamily K, member 2	34						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(19)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_hematologic(112;0.0378)					AACAGGTAGAGGAGCAGGAAG	0.532																																						ENST00000314902.2																			0				NS(1)|breast(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(19)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(100-102)Ctc>Atc		olfactory receptor, family 10, subfamily K, member 2							108	89	95					1																	158390557		2203	4297	6500	SO:0001583	missense	391107				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158390557G>T	AB065642	CCDS30896.1	1q23.1	2012-08-09			ENSG00000180708	ENSG00000180708		"GPCR / Class A : Olfactory receptors"	14826	protein-coding gene	gene with protein product							Standard	NM_001004476		Approved		uc010pii.2	Q6IF99	OTTHUMG00000019638	ENST00000314902.2:c.100C>A	1.37:g.158390557G>T	ENSP00000324251:p.Leu34Ile						p.L34I	NM_001004476.1	NP_001004476.1	Q6IF99	O10K2_HUMAN			1	99	-	all_hematologic(112;0.0378)		34						Missense_Mutation	SNP	ENST00000314902.2	37	c.100C>A	CCDS30896.1	.	.	.	.	.	.	.	.	.	.	G	4.430	0.079608	0.08533	.	.	ENSG00000180708	ENST00000314902	T	0.00448	7.38	4.1	1.07	0.20283	.	0.170375	0.28151	N	0.016407	T	0.00039	0.0001	L	0.31120	0.905	0.09310	N	0.999991	B	0.19331	0.035	B	0.17722	0.019	T	0.48636	-0.9018	10	0.02654	T	1	.	2.5261	0.04691	0.0979:0.3378:0.3126:0.2516	.	34	Q6IF99	O10K2_HUMAN	I	34	ENSP00000324251:L34I	ENSP00000324251:L34I	L	-	1	0	OR10K2	156657181	0.000000	0.05858	0.991000	0.47740	0.771000	0.43674	-0.212000	0.09319	0.117000	0.18138	-0.373000	0.07131	CTC		0.532	OR10K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051854.1	NM_001004476		13	40	1	0	2.27111e-07	1	2.37911e-07	13	40					T	158390557	G	T	158390557	3	4	435	1	0	0	0	0	1	0	0	0	10914	1000	35	5	840	5	OR10K2	1	158390557	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	89356	158390557	90860064	648	21573											
OR10K1	391109	broad.mit.edu	37	chr1	158435852	158435852	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tccctagtatttcatctgccCttccactcctccaaccagct	7	13	3	18	0	2	0	1	0	1	0	6	0	6	0	6	0	3	2	6	0	3	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:158435852C>A	ENST00000289451.2	+	1	581	c.501C>A	c.(499-501)ccC>ccA	p.P167P		NM_001004473.1	NP_001004473.1	Q8NGX5	O10K1_HUMAN	olfactory receptor, family 10, subfamily K, member 1	167						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	27	all_hematologic(112;0.0378)					TTCATCTGCCCTTCCACTCCT	0.537																																						ENST00000289451.2																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	27						c.(499-501)ccC>ccA		olfactory receptor, family 10, subfamily K, member 1							218	209	212					1																	158435852		2203	4300	6503	SO:0001819	synonymous_variant	391109				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158435852C>A	AP002532	CCDS30897.1	1q23.1	2012-08-09			ENSG00000173285	ENSG00000173285		"GPCR / Class A : Olfactory receptors"	14693	protein-coding gene	gene with protein product							Standard	NM_001004473		Approved		uc010pij.2	Q8NGX5	OTTHUMG00000017517	ENST00000289451.2:c.501C>A	1.37:g.158435852C>A							p.P167P	NM_001004473.1	NP_001004473.1	Q8NGX5	O10K1_HUMAN			1	581	+	all_hematologic(112;0.0378)		167					Q6IFS2	Silent	SNP	ENST00000289451.2	37	c.501C>A	CCDS30897.1																																																																																				0.537	OR10K1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046367.1			15	105	1	0	1.15088e-07	1	1.20771e-07	15	105					A	158435852	C	A	158435852	2	1	435	1	0	0	0	0	0	0	0	1	10913	668	24	5		5	OR10K1	1	158435852	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	45295	158435852	90814769	649	21574											
OR10Z1	128368	broad.mit.edu	37	chr1	158576625	158576625	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgtgctccactccactatGccagccacatgaatcctacc	9	10	5	17	0	1	1	0	1	1	0	4	1	4	1	6	0	4	1	6	0	3	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:158576625G>A	ENST00000361284.1	+	1	397	c.397G>A	c.(397-399)Gcc>Acc	p.A133T		NM_001004478.1	NP_001004478.1	Q8NGY1	O10Z1_HUMAN	olfactory receptor, family 10, subfamily Z, member 1	133						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|large_intestine(6)|lung(21)|pancreas(1)|prostate(3)|skin(4)	37	all_hematologic(112;0.0378)					ACTCCACTATGCCAGCCACAT	0.502																																						ENST00000361284.1																			0				endometrium(2)|large_intestine(6)|lung(21)|pancreas(1)|prostate(3)|skin(4)	37						c.(397-399)Gcc>Acc		olfactory receptor, family 10, subfamily Z, member 1							95	95	95					1																	158576625		2203	4300	6503	SO:0001583	missense	128368				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158576625G>A	AB065635	CCDS30901.1	1q23.1	2012-08-23			ENSG00000198967	ENSG00000198967		"GPCR / Class A : Olfactory receptors"	14996	protein-coding gene	gene with protein product							Standard	NM_001004478		Approved		uc010pio.2	Q8NGY1	OTTHUMG00000019637	ENST00000361284.1:c.397G>A	1.37:g.158576625G>A	ENSP00000354707:p.Ala133Thr						p.A133T	NM_001004478.1	NP_001004478.1	Q8NGY1	O10Z1_HUMAN			1	397	+	all_hematologic(112;0.0378)		133					Q5VYL0|Q6IFR7	Missense_Mutation	SNP	ENST00000361284.1	37	c.397G>A	CCDS30901.1	.	.	.	.	.	.	.	.	.	.	G	0.076	-1.193126	0.01607	.	.	ENSG00000198967	ENST00000361284	T	0.01059	5.39	5.36	1.38	0.22167	GPCR, rhodopsin-like superfamily (1);	1.010930	0.07956	N	0.981624	T	0.00109	0.0003	N	0.00465	-1.465	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.35624	-0.9781	10	0.02654	T	1	.	3.7983	0.08749	0.409:0.0:0.4276:0.1633	.	133	Q8NGY1	O10Z1_HUMAN	T	133	ENSP00000354707:A133T	ENSP00000354707:A133T	A	+	1	0	OR10Z1	156843249	0.000000	0.05858	0.921000	0.36526	0.505000	0.33919	-0.118000	0.10692	0.098000	0.17522	0.655000	0.94253	GCC		0.502	OR10Z1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051853.1	NM_001004478		24	31	0	0	0	1	0	24	31					A	158576625	G	A	158576625	3	1	435	1	0	0	0	0	1	0	0	0	10923	1319	46	3	399	3	OR10Z1	1	158576625	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	140773	158576625	90673996	650	21575											
SPTA1	6708	broad.mit.edu	37	chr1	158617376	158617376	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctgggcctcatttaggctCtccttacgatcctttgtacg	5	16	8	12	2	3	0	1	0	2	0	5	1	4	0	3	2	2	2	3	2	3	6			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:158617376C>A	ENST00000368147.4	-	27	4029	c.3849G>T	c.(3847-3849)gaG>gaT	p.E1283D		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	1283					actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					CATTTAGGCTCTCCTTACGAT	0.542																																						ENST00000368148.3																			0				NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307						c.(3847-3849)gaG>gaT		spectrin, alpha, erythrocytic 1 (elliptocytosis 2)							132	133	132					1																	158617376		1984	4142	6126	SO:0001583	missense	6708				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	g.chr1:158617376C>A	M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"EF-hand domain containing"	11272	protein-coding gene	gene with protein product	"elliptocytosis 2"	182860	"spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.3849G>T	1.37:g.158617376C>A	ENSP00000357129:p.Glu1283Asp					SPTA1_ENST00000368147.3_Missense_Mutation_p.E1283D	p.E1283D	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN			27	4029	-	all_hematologic(112;0.0378)		1283					Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Missense_Mutation	SNP	ENST00000368147.4	37	c.3849G>T	CCDS41423.1	.	.	.	.	.	.	.	.	.	.	C	4.510	0.094707	0.08681	.	.	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.51817	0.69;0.69	4.43	-0.0439	0.13857	.	.	.	.	.	T	0.10723	0.0262	N	0.16066	0.365	0.39123	D	0.961695	B	0.14012	0.009	B	0.20184	0.028	T	0.11867	-1.0570	9	0.24483	T	0.36	.	5.2589	0.15561	0.1333:0.5262:0.2603:0.0802	.	1283	P02549	SPTA1_HUMAN	D	1283	ENSP00000357130:E1283D;ENSP00000357129:E1283D	ENSP00000357129:E1283D	E	-	3	2	SPTA1	156884000	0.996000	0.38824	0.547000	0.28179	0.234000	0.25298	0.350000	0.20079	0.192000	0.20272	-0.253000	0.11424	GAG		0.542	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126		19	39	1	0	1.33834e-09	1	1.42249e-09	19	39					A	158617376	C	A	158617376	3	1	435	1	0	0	0	0	1	0	0	0	15115	912	32	5	3514	5	SPTA1	1	158617376	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	40751	158617376	90633245	651	21576											
SPTA1	6708	broad.mit.edu	37	chr1	158618332	158618332	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtacgaggtccctttcaaaGccctcatgccgtcgctgaag	8	9	11	13	3	2	1	2	1	0	0	4	2	3	1	3	2	3	2	3	2	3	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:158618332G>A	ENST00000368147.4	-	26	3861	c.3681C>T	c.(3679-3681)ggC>ggT	p.G1227G		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	1227					actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					CCCTTTCAAAGCCCTCATGCC	0.507																																						ENST00000368148.3																			0				NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307						c.(3679-3681)ggC>ggT		spectrin, alpha, erythrocytic 1 (elliptocytosis 2)							117	118	118					1																	158618332		1942	4121	6063	SO:0001819	synonymous_variant	6708				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	g.chr1:158618332G>A	M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"EF-hand domain containing"	11272	protein-coding gene	gene with protein product	"elliptocytosis 2"	182860	"spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.3681C>T	1.37:g.158618332G>A						SPTA1_ENST00000368147.3_Silent_p.G1227G	p.G1227G	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN			26	3861	-	all_hematologic(112;0.0378)		1227					Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Silent	SNP	ENST00000368147.4	37	c.3681C>T	CCDS41423.1																																																																																				0.507	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126		21	31	0	0	0	1	0	21	31					A	158618332	G	A	158618332	2	1	435	1	0	0	0	0	0	0	0	1	15115	958	34	3		3	SPTA1	1	158618332	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	956	158618332	90632289	652	21577											
SPTA1	6708	broad.mit.edu	37	chr1	158639538	158639538	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	atgttctctgaatcataatgGtcatcaccaatcaatttggt	12	15	6	8	0	5	1	4	1	1	0	6	1	5	1	1	2	0	1	1	2	4	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:158639538G>A	ENST00000368147.4	-	13	1818	c.1638C>T	c.(1636-1638)gaC>gaT	p.D546D		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	546					actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					AATCATAATGGTCATCACCAA	0.408																																						ENST00000368148.3																			0				NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307						c.(1636-1638)gaC>gaT		spectrin, alpha, erythrocytic 1 (elliptocytosis 2)							232	214	220					1																	158639538		1903	4116	6019	SO:0001819	synonymous_variant	6708				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	g.chr1:158639538G>A	M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"EF-hand domain containing"	11272	protein-coding gene	gene with protein product	"elliptocytosis 2"	182860	"spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.1638C>T	1.37:g.158639538G>A						SPTA1_ENST00000368147.3_Silent_p.D546D	p.D546D	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN			13	1818	-	all_hematologic(112;0.0378)		546					Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Silent	SNP	ENST00000368147.4	37	c.1638C>T	CCDS41423.1																																																																																				0.408	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126		70	101	0	0	0	1	0	70	101					A	158639538	G	A	158639538	2	1	435	1	0	0	0	0	0	0	0	1	15115	1252	44	3		3	SPTA1	1	158639538	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	21206	158639538	90611083	653	21578											
SPTA1	6708	broad.mit.edu	37	chr1	158655080	158655080	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgagtcaacacttcctgacGcctctcctggatctcttctg	6	12	7	16	2	4	1	1	1	3	0	7	3	5	2	4	1	1	0	4	1	1	2	rs121918642		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:158655080G>A	ENST00000368147.4	-	2	262	c.82C>T	c.(82-84)Cgt>Tgt	p.R28C		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	28			R -> C (in EL2). {ECO:0000269|PubMed:1679439}.|R -> H (in EL2; Corbeil; dbSNP:rs28934004). {ECO:0000269|PubMed:1679439}.|R -> L (in EL2). {ECO:0000269|PubMed:1679439}.|R -> S (in EL2; dbSNP:rs28934005). {ECO:0000269|PubMed:1679439, ECO:0000269|PubMed:1878597}.		actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					ACTTCCTGACGCCTCTCCTGG	0.458																																						ENST00000368148.3																			0				NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	GRCh37	CM910358|CM910359	SPTA1	M	rs121918642	c.(82-84)Cgt>Tgt		spectrin, alpha, erythrocytic 1 (elliptocytosis 2)							145	145	145					1																	158655080		1910	4126	6036	SO:0001583	missense	6708				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	g.chr1:158655080G>A	M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"EF-hand domain containing"	11272	protein-coding gene	gene with protein product	"elliptocytosis 2"	182860	"spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.82C>T	1.37:g.158655080G>A	ENSP00000357129:p.Arg28Cys					SPTA1_ENST00000368147.3_Missense_Mutation_p.R28C	p.R28C	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN			2	262	-	all_hematologic(112;0.0378)		28		R -> C (in EL2).|R -> H (in EL2; Corbeil; dbSNP:rs28934004).|R -> L (in EL2).|R -> S (in EL2; dbSNP:rs28934005).			Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Missense_Mutation	SNP	ENST00000368147.4	37	c.82C>T	CCDS41423.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.224169	0.79576	.	.	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.35048	1.33;1.33	4.98	3.05	0.35203	.	0.000000	0.28790	N	0.014122	T	0.44074	0.1276	M	0.78456	2.415	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.38478	-0.9659	10	0.37606	T	0.19	.	8.3995	0.32576	0.0824:0.0:0.7587:0.1589	rs28934005	28	P02549	SPTA1_HUMAN	C	28	ENSP00000357130:R28C;ENSP00000357129:R28C	ENSP00000357129:R28C	R	-	1	0	SPTA1	156921704	1.000000	0.71417	0.354000	0.25760	0.996000	0.88848	4.742000	0.62103	0.644000	0.30656	0.467000	0.42956	CGT		0.458	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126		36	44	0	0	0	1	0	36	44					A	158655080	G	A	158655080	3	1	435	1	0	0	0	0	1	0	0	0	15115	1087	38	1	7381	1	SPTA1	1	158655080	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	15542	158655080	90595541	654	21579											
OR6K2	81448	broad.mit.edu	37	chr1	158669921	158669921	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aggaagtcacagaagatatgTtcaaggtgattcgaaccaca	16	8	10	7	1	2	3	2	1	0	2	3	5	2	4	1	2	1	1	1	2	5	3	rs546431910		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:158669921T>C	ENST00000359610.2	-	1	565	c.522A>G	c.(520-522)gaA>gaG	p.E174E		NM_001005279.1	NP_001005279.1	Q8NGY2	OR6K2_HUMAN	olfactory receptor, family 6, subfamily K, member 2	174						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	46	all_hematologic(112;0.0378)					AGAAGATATGTTCAAGGTGAT	0.488																																						ENST00000359610.2																			0				breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	46						c.(520-522)gaA>gaG		olfactory receptor, family 6, subfamily K, member 2							128	110	116					1																	158669921		2203	4300	6503	SO:0001819	synonymous_variant	81448				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158669921T>C	BK004196	CCDS30902.1	1q23.1	2012-08-09			ENSG00000196171	ENSG00000196171		"GPCR / Class A : Olfactory receptors"	15029	protein-coding gene	gene with protein product							Standard	NM_001005279		Approved		uc001fsu.1	Q8NGY2	OTTHUMG00000022768	ENST00000359610.2:c.522A>G	1.37:g.158669921T>C							p.E174E	NM_001005279.1	NP_001005279.1	Q8NGY2	OR6K2_HUMAN			1	565	-	all_hematologic(112;0.0378)		174					B9EH33|Q6IFR6	Silent	SNP	ENST00000359610.2	37	c.522A>G	CCDS30902.1																																																																																				0.488	OR6K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059061.1	NM_001005279		21	33	0	0	0	1	0	21	33					C	158669921	T	C	158669921	2	2	435	1	0	0	0	0	0	0	0	1	11202	1722	60	4		4	OR6K2	1	158669921	Silent	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	14841	158669921	90580700	655	21580											
OR6K2	81448	broad.mit.edu	37	chr1	158670285	158670285	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acatgggagtgtggaggtgaGtattcaactggaccactgtg	10	10	15	6	0	1	1	1	1	0	0	1	4	1	4	1	4	1	1	1	4	2	2	rs147682709	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:158670285G>A	ENST00000359610.2	-	1	201	c.158C>T	c.(157-159)aCt>aTt	p.T53I		NM_001005279.1	NP_001005279.1	Q8NGY2	OR6K2_HUMAN	olfactory receptor, family 6, subfamily K, member 2	53						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	46	all_hematologic(112;0.0378)					GTGGAGGTGAGTATTCAACTG	0.443																																						ENST00000359610.2																			0				breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	46						c.(157-159)aCt>aTt		olfactory receptor, family 6, subfamily K, member 2							110	104	106					1																	158670285		2203	4300	6503	SO:0001583	missense	81448				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158670285G>A	BK004196	CCDS30902.1	1q23.1	2012-08-09			ENSG00000196171	ENSG00000196171		"GPCR / Class A : Olfactory receptors"	15029	protein-coding gene	gene with protein product							Standard	NM_001005279		Approved		uc001fsu.1	Q8NGY2	OTTHUMG00000022768	ENST00000359610.2:c.158C>T	1.37:g.158670285G>A	ENSP00000352626:p.Thr53Ile						p.T53I	NM_001005279.1	NP_001005279.1	Q8NGY2	OR6K2_HUMAN			1	201	-	all_hematologic(112;0.0378)		53					B9EH33|Q6IFR6	Missense_Mutation	SNP	ENST00000359610.2	37	c.158C>T	CCDS30902.1	.	.	.	.	.	.	.	.	.	.	G	0.141	-1.102308	0.01828	.	.	ENSG00000196171	ENST00000359610	T	0.00421	7.46	4.67	-3.37	0.04898	GPCR, rhodopsin-like superfamily (1);	0.756258	0.11164	N	0.592737	T	0.00109	0.0003	L	0.49640	1.575	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.15263	-1.0443	10	0.39692	T	0.17	-0.599	6.5533	0.22446	0.2616:0.3247:0.4137:0.0	.	53	Q8NGY2	OR6K2_HUMAN	I	53	ENSP00000352626:T53I	ENSP00000352626:T53I	T	-	2	0	OR6K2	156936909	0.000000	0.05858	0.000000	0.03702	0.219000	0.24729	-3.252000	0.00539	-0.607000	0.05738	-0.175000	0.13238	ACT		0.443	OR6K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059061.1	NM_001005279		14	22	0	0	0	1	0	14	22					A	158670285	G	A	158670285	3	1	435	1	0	0	0	0	1	0	0	0	11202	1029	36	3	820	3	OR6K2	1	158670285	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	364	158670285	90580336	656	21581											
OR6K3	391114	broad.mit.edu	37	chr1	158686968	158686968	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tggctctgtattaacctccaGgcttgttcaacactttttga	8	16	7	10	0	2	1	1	1	1	0	3	1	3	1	2	2	2	4	2	2	3	6			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:158686968G>T	ENST00000368146.1	-	1	985	c.986C>A	c.(985-987)cCt>cAt	p.P329H	OR6K3_ENST00000368145.1_Missense_Mutation_p.P313H			Q8NGY3	OR6K3_HUMAN	olfactory receptor, family 6, subfamily K, member 3	329						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)	41	all_hematologic(112;0.0378)					TTAACCTCCAGGCTTGTTCAA	0.408																																						ENST00000368146.1																			0				NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)	41						c.(985-987)cCt>cAt		olfactory receptor, family 6, subfamily K, member 3							113	116	115					1																	158686968		2203	4300	6503	SO:0001583	missense	391114				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158686968G>T	AB065633	CCDS30903.1, CCDS30903.2	1q23.1	2012-08-09			ENSG00000203757	ENSG00000203757		"GPCR / Class A : Olfactory receptors"	15030	protein-coding gene	gene with protein product							Standard	NM_001005327		Approved		uc021pbn.1	Q8NGY3	OTTHUMG00000022770	ENST00000368146.1:c.986C>A	1.37:g.158686968G>T	ENSP00000357128:p.Pro329His					OR6K3_ENST00000368145.1_Missense_Mutation_p.P313H	p.P329H			Q8NGY3	OR6K3_HUMAN			1	985	-	all_hematologic(112;0.0378)		329					Q5VUV0|Q6IFR5	Missense_Mutation	SNP	ENST00000368146.1	37	c.986C>A		.	.	.	.	.	.	.	.	.	.	G	7.873	0.728582	0.15507	.	.	ENSG00000203757	ENST00000368145;ENST00000368146	T;T	0.00003	9.85;9.84	3.08	-1.32	0.09201	.	.	.	.	.	T	0.00012	0.0000	N	0.19112	0.55	0.09310	N	1	P	0.36837	0.571	B	0.37304	0.246	T	0.00024	-1.2328	9	0.54805	T	0.06	.	4.059	0.09829	0.2424:0.3836:0.3739:0.0	.	329	Q8NGY3	OR6K3_HUMAN	H	313;329	ENSP00000357127:P313H;ENSP00000357128:P329H	ENSP00000357127:P313H	P	-	2	0	OR6K3	156953592	0.000000	0.05858	0.000000	0.03702	0.031000	0.12232	-0.313000	0.08103	-0.269000	0.09298	0.467000	0.42956	CCT		0.408	OR6K3-201	KNOWN	basic	protein_coding	protein_coding				39	61	1	0	2.35958e-20	1	2.61572e-20	39	61					T	158686968	G	T	158686968	3	4	435	1	0	0	0	0	1	0	0	0	11203	1000	35	5	11	5	OR6K3	1	158686968	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	16683	158686968	90563653	657	21582											
OR6K6	128371	broad.mit.edu	37	chr1	158725070	158725070	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gacaggtacatagctatctgCaatccactccgttacccaac	12	9	6	14	1	1	0	0	0	1	0	3	1	3	0	3	1	5	4	3	1	6	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:158725070C>T	ENST00000368144.2	+	1	561	c.465C>T	c.(463-465)tgC>tgT	p.C155C		NM_001005184.1	NP_001005184.1	Q8NGW6	OR6K6_HUMAN	olfactory receptor, family 6, subfamily K, member 6	155						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|large_intestine(5)|lung(17)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_hematologic(112;0.0378)					TAGCTATCTGCAATCCACTCC	0.483																																						ENST00000368144.2																			0				endometrium(1)|large_intestine(5)|lung(17)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(463-465)tgC>tgT		olfactory receptor, family 6, subfamily K, member 6							120	101	108					1																	158725070		2203	4300	6503	SO:0001819	synonymous_variant	128371				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158725070C>T	BK004198	CCDS30904.1	1q23.1	2012-08-09			ENSG00000180433	ENSG00000180433		"GPCR / Class A : Olfactory receptors"	15033	protein-coding gene	gene with protein product							Standard	NM_001005184		Approved		uc001fsw.1	Q8NGW6	OTTHUMG00000022772	ENST00000368144.2:c.465C>T	1.37:g.158725070C>T							p.C155C	NM_001005184.1	NP_001005184.1	Q8NGW6	OR6K6_HUMAN			1	561	+	all_hematologic(112;0.0378)		155					B9EIM8|Q5VUU9|Q6IFR4	Silent	SNP	ENST00000368144.2	37	c.465C>T	CCDS30904.1																																																																																				0.483	OR6K6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059065.2	NM_001005184		22	41	0	0	0	1	0	22	41					T	158725070	C	T	158725070	2	4	435	1	0	0	0	0	0	0	0	1	11204	718	25	3		3	OR6K6	1	158725070	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	38102	158725070	90525551	658	21583											
OR6K6	128371	broad.mit.edu	37	chr1	158725149	158725149	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gatcctgcttttgtggcttcCtccttgtgcttcctgagatt	3	18	9	11	0	0	1	0	1	0	1	4	3	4	1	4	1	2	3	4	1	0	6	rs201334240		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:158725149C>A	ENST00000368144.2	+	1	640	c.544C>A	c.(544-546)Ctc>Atc	p.L182I		NM_001005184.1	NP_001005184.1	Q8NGW6	OR6K6_HUMAN	olfactory receptor, family 6, subfamily K, member 6	182						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|large_intestine(5)|lung(17)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_hematologic(112;0.0378)					TTGTGGCTTCCTCCTTGTGCT	0.473																																						ENST00000368144.2																			0				endometrium(1)|large_intestine(5)|lung(17)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(544-546)Ctc>Atc		olfactory receptor, family 6, subfamily K, member 6							147	119	128					1																	158725149		2203	4300	6503	SO:0001583	missense	128371				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158725149C>A	BK004198	CCDS30904.1	1q23.1	2012-08-09			ENSG00000180433	ENSG00000180433		"GPCR / Class A : Olfactory receptors"	15033	protein-coding gene	gene with protein product							Standard	NM_001005184		Approved		uc001fsw.1	Q8NGW6	OTTHUMG00000022772	ENST00000368144.2:c.544C>A	1.37:g.158725149C>A	ENSP00000357126:p.Leu182Ile						p.L182I	NM_001005184.1	NP_001005184.1	Q8NGW6	OR6K6_HUMAN			1	640	+	all_hematologic(112;0.0378)		182					B9EIM8|Q5VUU9|Q6IFR4	Missense_Mutation	SNP	ENST00000368144.2	37	c.544C>A	CCDS30904.1	.	.	.	.	.	.	.	.	.	.	C	10.17	1.275779	0.23307	.	.	ENSG00000180433	ENST00000368144	T	0.43294	0.95	5.48	4.57	0.56435	GPCR, rhodopsin-like superfamily (1);	0.186515	0.26248	N	0.025463	T	0.16428	0.0395	L	0.38953	1.18	0.09310	N	1	B	0.26672	0.156	B	0.30943	0.122	T	0.07947	-1.0746	10	0.38643	T	0.18	-16.1213	8.9121	0.35559	0.1486:0.7733:0.0:0.0781	.	182	Q8NGW6	OR6K6_HUMAN	I	182	ENSP00000357126:L182I	ENSP00000357126:L182I	L	+	1	0	OR6K6	156991773	0.000000	0.05858	0.967000	0.41034	0.729000	0.41735	-2.220000	0.01217	1.557000	0.49525	0.655000	0.94253	CTC		0.473	OR6K6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059065.2	NM_001005184		20	42	1	0	2.37509e-13	1	2.57931e-13	20	42					A	158725149	C	A	158725149	3	1	435	1	0	0	0	0	1	0	0	0	11204	681	24	5	546	5	OR6K6	1	158725149	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	79	158725149	90525472	659	21584											
MNDA	4332	broad.mit.edu	37	chr1	158813813	158813813	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgtcccaagagcagagtaaGcccccaggtccctcaggagc	10	5	12	14	0	1	2	1	0	0	2	3	3	3	3	4	2	3	2	4	2	2	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:158813813G>A	ENST00000368141.4	+	4	732	c.471G>A	c.(469-471)aaG>aaA	p.K157K		NM_002432.1	NP_002423.1	P41218	MNDA_HUMAN	myeloid cell nuclear differentiation antigen	157					B cell receptor signaling pathway (GO:0050853)|cellular defense response (GO:0006968)|cellular response to DNA damage stimulus (GO:0006974)|negative regulation of B cell proliferation (GO:0030889)|positive regulation of apoptotic process (GO:0043065)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(2)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(26)|ovary(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	all_hematologic(112;0.0378)					AGCAGAGTAAGCCCCCAGGTC	0.468																																						ENST00000368141.4																			0				NS(2)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(26)|ovary(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65						c.(469-471)aaG>aaA		myeloid cell nuclear differentiation antigen							207	175	186					1																	158813813		2203	4300	6503	SO:0001819	synonymous_variant	4332				B cell receptor signaling pathway|cellular defense response|negative regulation of B cell proliferation|positive regulation of apoptosis|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding	g.chr1:158813813G>A	BC032319	CCDS1177.1	1q22	2008-02-05			ENSG00000163563	ENSG00000163563			7183	protein-coding gene	gene with protein product		159553				1644857, 7512843	Standard	NM_002432		Approved	PYHIN3	uc001fsz.1	P41218	OTTHUMG00000022776	ENST00000368141.4:c.471G>A	1.37:g.158813813G>A							p.K157K	NM_002432.1	NP_002423.1	P41218	MNDA_HUMAN			4	732	+	all_hematologic(112;0.0378)		157						Silent	SNP	ENST00000368141.4	37	c.471G>A	CCDS1177.1																																																																																				0.468	MNDA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059069.1	NM_002432		27	50	0	0	0	1	0	27	50					A	158813813	G	A	158813813	2	1	435	1	0	0	0	0	0	0	0	1	9676	962	34	3		3	MNDA	1	158813813	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	88664	158813813	90436808	660	21585											
IFI16	3428	broad.mit.edu	37	chr1	158984686	158984686	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ataaaaattttcgaagatatAccaacgcttgaagacctggc	16	10	7	8	2	0	3	0	1	0	2	1	4	0	3	2	1	2	1	2	1	8	6			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:158984686A>G	ENST00000295809.7	+	2	471	c.216A>G	c.(214-216)atA>atG	p.I72M	IFI16_ENST00000430894.2_Missense_Mutation_p.I76M|IFI16_ENST00000368131.4_Missense_Mutation_p.I72M|IFI16_ENST00000359709.3_Missense_Mutation_p.I72M|IFI16_ENST00000448393.2_Missense_Mutation_p.I72M|IFI16_ENST00000340979.6_Missense_Mutation_p.I72M|IFI16_ENST00000368132.3_Missense_Mutation_p.I72M			Q16666	IF16_HUMAN	interferon, gamma-inducible protein 16	72	DAPIN. {ECO:0000255|PROSITE- ProRule:PRU00061}.|Lys-rich.				activation of cysteine-type endopeptidase activity (GO:0097202)|activation of innate immune response (GO:0002218)|autophagy (GO:0006914)|cell proliferation (GO:0008283)|cellular response to glucose starvation (GO:0042149)|cellular response to ionizing radiation (GO:0071479)|defense response to virus (GO:0051607)|hemopoiesis (GO:0030097)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|monocyte differentiation (GO:0030224)|myeloid cell differentiation (GO:0030099)|negative regulation of cysteine-type endopeptidase activity (GO:2000117)|negative regulation of DNA binding (GO:0043392)|negative regulation of innate immune response (GO:0045824)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of viral genome replication (GO:0045071)|positive regulation of cytokine production (GO:0001819)|positive regulation of interleukin-1 beta production (GO:0032731)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of autophagy (GO:0010506)|regulation of gene expression, epigenetic (GO:0040029)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	core promoter binding (GO:0001047)|double-stranded DNA binding (GO:0003690)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|transcription factor binding (GO:0008134)			cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_hematologic(112;0.0429)					TCGAAGATATACCAACGCTTG	0.413																																						ENST00000295809.7																			0				cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(214-216)atA>atG		interferon, gamma-inducible protein 16							69	75	73					1																	158984686		2203	4298	6501	SO:0001583	missense	3428				cell proliferation|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|monocyte differentiation|negative regulation of transcription, DNA-dependent|response to virus|transcription, DNA-dependent	cytoplasm|nuclear speck|nucleolus	double-stranded DNA binding|protein binding	g.chr1:158984686A>G	M63838	CCDS1180.3, CCDS58039.1	1q22	2008-02-05			ENSG00000163565	ENSG00000163565			5395	protein-coding gene	gene with protein product		147586				1526658, 7959953	Standard	NM_005531		Approved	IFNGIP1, PYHIN2	uc010pis.2	Q16666	OTTHUMG00000037108	ENST00000295809.7:c.216A>G	1.37:g.158984686A>G	ENSP00000295809:p.Ile72Met					IFI16_ENST00000448393.2_Missense_Mutation_p.I72M|IFI16_ENST00000430894.2_Missense_Mutation_p.I76M|IFI16_ENST00000368132.3_Missense_Mutation_p.I72M|IFI16_ENST00000368131.4_Missense_Mutation_p.I72M|IFI16_ENST00000340979.6_Missense_Mutation_p.I72M|IFI16_ENST00000359709.3_Missense_Mutation_p.I72M	p.I72M			Q16666	IF16_HUMAN			2	471	+	all_hematologic(112;0.0429)		72			DAPIN.|Lys-rich.		B4DJT8|H3BLV7|Q59GX0|Q5T3W7|Q5T3W8|Q5T3X0|Q5T3X1|Q5T3X2|Q8N9E5|Q8NEQ7|Q96AJ5|Q9UH78	Missense_Mutation	SNP	ENST00000295809.7	37	c.216A>G		.	.	.	.	.	.	.	.	.	.	.	10.53	1.376367	0.24857	.	.	ENSG00000163565	ENST00000359709;ENST00000426592;ENST00000447473;ENST00000295809;ENST00000340979;ENST00000368131;ENST00000368132;ENST00000430894	T;T;T;T;T;T;T;T	0.49432	0.78;0.78;0.78;0.78;0.78;0.78;0.78;0.78	3.27	-6.47	0.01902	Pyrin (2);DEATH-like (1);	.	.	.	.	T	0.16128	0.0388	L	0.42245	1.32	0.09310	N	1	P;B;P	0.46395	0.877;0.22;0.877	P;B;P	0.48488	0.579;0.094;0.579	T	0.05937	-1.0855	9	0.22109	T	0.4	.	0.7226	0.00943	0.2271:0.1469:0.3189:0.3071	.	76;72;72	E7EPR3;Q16666-2;Q16666	.;.;IF16_HUMAN	M	72;72;72;72;72;72;72;76	ENSP00000352740:I72M;ENSP00000406406:I72M;ENSP00000407052:I72M;ENSP00000295809:I72M;ENSP00000342741:I72M;ENSP00000357113:I72M;ENSP00000357114:I72M;ENSP00000394935:I76M	ENSP00000295809:I72M	I	+	3	3	IFI16	157251310	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.840000	0.01684	-1.452000	0.01931	0.454000	0.30748	ATA		0.413	IFI16-013	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000421720.1	NM_005531		27	48	0	0	0	1	0	27	48					G	158984686	A	G	158984686	3	3	435	1	0	0	0	0	1	0	0	0	7511	381	14	4	218	4	IFI16	1	158984686	Missense_Mutation	SNP	A	TCGA-XK-AAIW-01A-11D-A41K-08	170873	158984686	90265935	661	21586											
CADM3	57863	broad.mit.edu	37	chr1	159162426	159162426	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccccacgagctcagcatcagCatcagcaatgtggccctggc	9	6	10	16	1	3	0	3	0	0	0	3	1	3	0	3	2	4	4	3	2	1	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:159162426C>T	ENST00000368125.4	+	3	445	c.288C>T	c.(286-288)agC>agT	p.S96S	CADM3_ENST00000368124.4_Silent_p.S130S	NM_001127173.1	NP_001120645.1	Q8N126	CADM3_HUMAN	cell adhesion molecule 3	96	Ig-like V-type.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|heterophilic cell-cell adhesion (GO:0007157)|homophilic cell adhesion (GO:0007156)|protein localization (GO:0008104)	cell-cell junction (GO:0005911)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(20)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55	all_hematologic(112;0.0429)					TCAGCATCAGCATCAGCAATG	0.527																																						ENST00000368125.4																			0				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(20)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						c.(286-288)agC>agT		cell adhesion molecule 3							165	132	143					1																	159162426		2203	4300	6503	SO:0001819	synonymous_variant	57863				adherens junction organization|cell junction assembly|heterophilic cell-cell adhesion|homophilic cell adhesion	cell-cell junction|integral to membrane	protein homodimerization activity	g.chr1:159162426C>T	AY046418	CCDS1182.1, CCDS44251.1	1q21.2-q22	2013-01-29	2007-02-07	2007-02-07	ENSG00000162706	ENSG00000162706		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	17601	protein-coding gene	gene with protein product	"nectin-like 1"	609743	"immunoglobulin superfamily, member 4B"	IGSF4B		11536053	Standard	NM_021189		Approved	BIgR, FLJ10698, TSLL1, NECL1, SynCAM3, Necl-1	uc001ftk.2	Q8N126	OTTHUMG00000037177	ENST00000368125.4:c.288C>T	1.37:g.159162426C>T						CADM3_ENST00000368124.4_Silent_p.S130S	p.S96S	NM_001127173.1	NP_001120645.1	Q8N126	CADM3_HUMAN			3	445	+	all_hematologic(112;0.0429)		96			Ig-like V-type.		Q8IZQ9|Q9NVJ5|Q9UJP1	Silent	SNP	ENST00000368125.4	37	c.288C>T	CCDS44251.1																																																																																				0.527	CADM3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000090330.1	NM_021189		20	28	0	0	0	1	0	20	28					T	159162426	C	T	159162426	2	4	435	1	0	0	0	0	0	0	0	1	2568	709	25	3		3	CADM3	1	159162426	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	177740	159162426	90088195	662	21587											
DARC	2532	broad.mit.edu	37	chr1	159175630	159175630	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgtgtagcctgggctactGtgtctggtatggctcagcct	4	13	13	11	0	2	0	1	0	1	0	2	0	2	0	3	3	3	4	3	3	3	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:159175630G>A	ENST00000368122.2	+	2	1080	c.401G>A	c.(400-402)tGt>tAt	p.C134Y	DARC_ENST00000368121.2_Missense_Mutation_p.C136Y|DARC_ENST00000537147.1_Missense_Mutation_p.C134Y|CTA-134P22.2_ENST00000609696.1_RNA	NM_002036.3	NP_002027.2	Q16570	ACKR1_HUMAN		134					chemokine-mediated signaling pathway (GO:0070098)|defense response (GO:0006952)|inflammatory response (GO:0006954)|regulation of chemokine production (GO:0032642)	endosome (GO:0005768)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	C-C chemokine binding (GO:0019957)|G-protein coupled receptor activity (GO:0004930)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			large_intestine(2)|lung(1)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	8	all_hematologic(112;0.0429)					CTGGGCTACTGTGTCTGGTAT	0.647																																						ENST00000537147.1																			0				large_intestine(2)|lung(1)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	8						c.(400-402)tGt>tAt		Duffy blood group, atypical chemokine receptor							60	47	52					1																	159175630		2203	4300	6503	SO:0001583	missense	2532				defense response	integral to membrane|plasma membrane	C-C chemokine binding|chemokine receptor activity	g.chr1:159175630G>A																												ENST00000368122.2:c.401G>A	1.37:g.159175630G>A	ENSP00000357104:p.Cys134Tyr					DARC_ENST00000368122.2_Missense_Mutation_p.C134Y|DARC_ENST00000368121.2_Missense_Mutation_p.C136Y	p.C134Y			Q16570	DUFFY_HUMAN			3	1244	+	all_hematologic(112;0.0429)		134					A8YPG5|O75898|Q16300|Q8WWE3|Q9UJP0|Q9UKZ5|Q9UKZ6|Q9UQE1	Missense_Mutation	SNP	ENST00000368122.2	37	c.401G>A	CCDS1183.1	.	.	.	.	.	.	.	.	.	.	G	0.094	-1.162572	0.01673	.	.	ENSG00000213088	ENST00000368122;ENST00000537147;ENST00000359381;ENST00000435307;ENST00000368121	T;T;T;T	0.34072	1.38;1.38;1.98;1.38	5.23	2.15	0.27550	.	1.202960	0.06726	U	0.775838	T	0.06188	0.0160	N	0.08118	0	0.09310	N	1	P;P	0.35944	0.529;0.529	B;B	0.32980	0.156;0.156	T	0.30327	-0.9982	10	0.52906	T	0.07	-0.1866	2.8868	0.05663	0.1022:0.1353:0.5216:0.2409	.	136;134	Q5Y7A1;Q16570	.;DUFFY_HUMAN	Y	134;134;134;136;136	ENSP00000357104:C134Y;ENSP00000441985:C134Y;ENSP00000398406:C136Y;ENSP00000357103:C136Y	ENSP00000352341:C134Y	C	+	2	0	DARC	157442254	0.001000	0.12720	0.221000	0.23827	0.840000	0.47671	0.496000	0.22499	0.210000	0.20664	-0.258000	0.10820	TGT		0.647	DARC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090338.2			8	15	0	0	0	1	0	8	15					A	159175630	G	A	159175630	3	1	435	1	0	0	0	0	1	0	0	0	4240	1377	48	3	434	3	DARC	1	159175630	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	13204	159175630	90074991	663	21588											
DARC	2532	broad.mit.edu	37	chr1	159176048	159176048	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggtccaagctgttgctgttGtcaacatgtctggcccagca	8	11	11	11	0	2	0	1	0	1	0	3	0	3	0	2	2	4	5	2	2	2	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:159176048G>A	ENST00000368122.2	+	2	1498	c.819G>A	c.(817-819)ttG>ttA	p.L273L	DARC_ENST00000368121.2_Silent_p.L275L|DARC_ENST00000537147.1_Silent_p.L273L|CTA-134P22.2_ENST00000609696.1_RNA	NM_002036.3	NP_002027.2	Q16570	ACKR1_HUMAN		273					chemokine-mediated signaling pathway (GO:0070098)|defense response (GO:0006952)|inflammatory response (GO:0006954)|regulation of chemokine production (GO:0032642)	endosome (GO:0005768)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	C-C chemokine binding (GO:0019957)|G-protein coupled receptor activity (GO:0004930)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			large_intestine(2)|lung(1)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	8	all_hematologic(112;0.0429)					TGTTGCTGTTGTCAACATGTC	0.567																																						ENST00000537147.1																			0				large_intestine(2)|lung(1)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	8						c.(817-819)ttG>ttA		Duffy blood group, atypical chemokine receptor							138	140	139					1																	159176048		2203	4300	6503	SO:0001819	synonymous_variant	2532				defense response	integral to membrane|plasma membrane	C-C chemokine binding|chemokine receptor activity	g.chr1:159176048G>A																												ENST00000368122.2:c.819G>A	1.37:g.159176048G>A						DARC_ENST00000368122.2_Silent_p.L273L|DARC_ENST00000368121.2_Silent_p.L275L	p.L273L			Q16570	DUFFY_HUMAN			3	1662	+	all_hematologic(112;0.0429)		273					A8YPG5|O75898|Q16300|Q8WWE3|Q9UJP0|Q9UKZ5|Q9UKZ6|Q9UQE1	Silent	SNP	ENST00000368122.2	37	c.819G>A	CCDS1183.1																																																																																				0.567	DARC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090338.2			5	135	0	0	0	1	0	5	135					A	159176048	G	A	159176048	2	1	435	1	0	0	0	0	0	0	0	1	4240	1368	48	3		3	DARC	1	159176048	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	418	159176048	90074573	664	21589											
OR10J1	26476	broad.mit.edu	37	chr1	159410002	159410002	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttattatgaacaagaggctgCgtatccaacttgtcctgggg	10	12	11	8	1	0	2	0	1	0	1	2	2	2	2	2	3	3	2	2	3	6	4	rs139843472	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:159410002C>T	ENST00000423932.3	+	1	491	c.454C>T	c.(454-456)Cgt>Tgt	p.R152C	RP11-550P17.5_ENST00000431862.1_RNA	NM_012351.2	NP_036483.2	P30954	O10J1_HUMAN	olfactory receptor, family 10, subfamily J, member 1	152					G-protein coupled receptor signaling pathway (GO:0007186)|sensory perception of chemical stimulus (GO:0007606)|single fertilization (GO:0007338)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|stomach(1)	25	all_hematologic(112;0.0429)					CAAGAGGCTGCGTATCCAACT	0.498													c|||	9	0.00179712	8e-04	0	5008	,	,		22841	0		0	False		,,,				2504	0.0082					ENST00000423932.3																			0				endometrium(2)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|stomach(1)	25						c.(454-456)Cgt>Tgt		olfactory receptor, family 10, subfamily J, member 1							128	122	124					1																	159410002		2203	4300	6503	SO:0001583	missense	26476				sensory perception of smell|single fertilization	integral to plasma membrane	olfactory receptor activity	g.chr1:159410002C>T	X64995	CCDS1185.1	1q23.2	2012-08-09			ENSG00000196184	ENSG00000196184		"GPCR / Class A : Olfactory receptors"	8175	protein-coding gene	gene with protein product						1370859	Standard	NM_012351		Approved	HGMP07J, HSHGMP07J	uc010piv.2	P30954	OTTHUMG00000022737	ENST00000423932.3:c.454C>T	1.37:g.159410002C>T	ENSP00000399078:p.Arg152Cys					RP11-550P17.5_ENST00000431862.1_RNA	p.R152C	NM_012351.2	NP_036483.2	P30954	O10J1_HUMAN			1	491	+	all_hematologic(112;0.0429)		152					Q2M1M8|Q5VSV1|Q6IET5|Q96R56	Missense_Mutation	SNP	ENST00000423932.3	37	c.454C>T	CCDS1185.1	.	.	.	.	.	.	.	.	.	.	c	0.001	-3.107859	0.00033	.	.	ENSG00000196184	ENST00000423932	T	0.34275	1.37	4.58	0.683	0.17998	GPCR, rhodopsin-like superfamily (1);	0.000000	0.45126	N	0.000393	T	0.01092	0.0036	N	0.00018	-2.815	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.47446	-0.9117	10	0.02654	T	1	.	9.5971	0.39580	0.0:0.1681:0.0:0.8319	.	152	P30954	O10J1_HUMAN	C	152	ENSP00000399078:R152C	ENSP00000399078:R152C	R	+	1	0	OR10J1	157676626	0.000000	0.05858	0.002000	0.10522	0.004000	0.04260	0.160000	0.16462	0.040000	0.15660	-1.088000	0.02184	CGT		0.498	OR10J1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059020.1	NM_012351		50	73	0	0	0	1	0	50	73					T	159410002	C	T	159410002	3	4	435	1	0	0	0	0	1	0	0	0	10910	768	27	1	456	1	OR10J1	1	159410002	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	233954	159410002	89840619	665	21590											
CCDC19	25790	broad.mit.edu	37	chr1	159856423	159856423	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tccagttctttttggatctgCtgcttctccaggatttgggc	4	17	10	10	0	3	0	0	0	3	0	5	2	4	2	2	3	2	3	2	3	0	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:159856423C>T	ENST00000368099.4	-	6	709	c.645G>A	c.(643-645)caG>caA	p.Q215Q	CCDC19_ENST00000476696.1_5'UTR|CCDC19_ENST00000426543.2_Silent_p.Q130Q	NM_012337.2	NP_036469.2														endometrium(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	26	all_hematologic(112;0.0597)		BRCA - Breast invasive adenocarcinoma(70;0.151)			TTTGGATCTGCTGCTTCTCCA	0.498																																						ENST00000426543.2																			0				endometrium(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	26						c.(388-390)caG>caA		coiled-coil domain containing 19							248	238	241					1																	159856423		2203	4300	6503	SO:0001819	synonymous_variant	25790					mitochondrion|soluble fraction		g.chr1:159856423C>T																												ENST00000368099.4:c.645G>A	1.37:g.159856423C>T						CCDC19_ENST00000476696.1_5'UTR|CCDC19_ENST00000368099.4_Silent_p.Q215Q	p.Q130Q			Q9UL16	CCD19_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.151)		6	845	-	all_hematologic(112;0.0597)		215						Silent	SNP	ENST00000368099.4	37	c.390G>A	CCDS30914.1																																																																																				0.498	CCDC19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085979.1			55	89	0	0	0	1	0	55	89					T	159856423	C	T	159856423	2	4	435	1	0	0	0	0	0	0	0	1	2795	796	28	3		3	CCDC19	1	159856423	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	446421	159856423	89394198	666	21591											
IGSF9	57549	broad.mit.edu	37	chr1	159906633	159906633	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gccacgggccacacaacgcaGggtcacaggctccagttcct	9	5	11	16	2	1	0	1	0	0	0	3	0	3	0	4	3	1	3	4	3	1	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:159906633G>T	ENST00000368094.1	-	5	663	c.466C>A	c.(466-468)Ctg>Atg	p.L156M	IGSF9_ENST00000361509.3_Missense_Mutation_p.L156M|IGSF9_ENST00000493195.1_5'Flank	NM_001135050.1	NP_001128522.1	Q9P2J2	TUTLA_HUMAN	immunoglobulin superfamily, member 9	156	Ig-like 2.				dendrite development (GO:0016358)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synapse (GO:0045202)				central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(17)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_hematologic(112;0.0597)	Breast(1374;0.000126)	BRCA - Breast invasive adenocarcinoma(70;0.111)			ACACAACGCAGGGTCACAGGC	0.642											OREG0013921	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000368094.1																			0				central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(17)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	56						c.(466-468)Ctg>Atg		immunoglobulin superfamily, member 9							64	64	64					1																	159906633		2203	4300	6503	SO:0001583	missense	57549					cell junction|integral to membrane|synapse		g.chr1:159906633G>T	AB037776	CCDS1190.1, CCDS44254.1	1q22-q23	2013-02-11			ENSG00000085552	ENSG00000085552		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	18132	protein-coding gene	gene with protein product		609738				11991715	Standard	NM_020789		Approved	KIAA1355, Nrt1, IGSF9A	uc001fur.2	Q9P2J2	OTTHUMG00000022794	ENST00000368094.1:c.466C>A	1.37:g.159906633G>T	ENSP00000357073:p.Leu156Met		OREG0013921	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1804	IGSF9_ENST00000361509.3_Missense_Mutation_p.L156M	p.L156M	NM_001135050.1	NP_001128522.1	Q9P2J2	TUTLA_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)		5	663	-	all_hematologic(112;0.0597)	Breast(1374;0.000126)	156			Ig-like 2.			Missense_Mutation	SNP	ENST00000368094.1	37	c.466C>A	CCDS44254.1	.	.	.	.	.	.	.	.	.	.	G	16.95	3.262634	0.59431	.	.	ENSG00000085552	ENST00000361509;ENST00000368094;ENST00000198587	D;D	0.86366	-2.11;-2.11	4.96	0.639	0.17747	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.33980	N	0.004369	D	0.88883	0.6558	M	0.80332	2.49	0.35291	D	0.78217	D;D	0.89917	1.0;0.999	D;D	0.97110	1.0;0.987	D	0.86697	0.1927	9	.	.	.	-10.3905	8.0729	0.30699	0.391:0.0:0.609:0.0	.	156;156	Q9P2J2;C9JI81	TUTLA_HUMAN;.	M	156	ENSP00000355049:L156M;ENSP00000357073:L156M	.	L	-	1	2	IGSF9	158173257	1.000000	0.71417	0.988000	0.46212	0.919000	0.55068	2.021000	0.41020	-0.075000	0.12798	0.462000	0.41574	CTG		0.642	IGSF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059115.1	NM_020789		6	28	1	0	0.00116845	1	0.0011864	6	28					T	159906633	G	T	159906633	3	4	435	1	0	0	0	0	1	0	0	0	7605	991	35	5	3141	5	IGSF9	1	159906633	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	50210	159906633	89343988	667	21592											
ATP1A2	477	broad.mit.edu	37	chr1	160098444	160098444	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcctctttctctaccaggtGtgcctgaccctgacagccaa	7	11	7	16	0	2	2	0	2	2	0	4	2	3	2	5	1	3	0	5	1	2	2	rs142140032		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:160098444G>A	ENST00000361216.3	+	9	1109	c.1020G>A	c.(1018-1020)gtG>gtA	p.V340V	ATP1A2_ENST00000392233.3_Silent_p.V340V	NM_000702.3	NP_000693.1	P50993	AT1A2_HUMAN	ATPase, Na+/K+ transporting, alpha 2 polypeptide	340					adult locomotory behavior (GO:0008344)|ATP biosynthetic process (GO:0006754)|ATP hydrolysis coupled proton transport (GO:0015991)|cardiac muscle contraction (GO:0060048)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular potassium ion homeostasis (GO:0030007)|cellular response to mechanical stimulus (GO:0071260)|cellular response to steroid hormone stimulus (GO:0071383)|cellular sodium ion homeostasis (GO:0006883)|ion transmembrane transport (GO:0034220)|locomotion (GO:0040011)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|negative regulation of heart contraction (GO:0045822)|negative regulation of striated muscle contraction (GO:0045988)|neurotransmitter uptake (GO:0001504)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|regulation of smooth muscle contraction (GO:0006940)|regulation of striated muscle contraction (GO:0006942)|regulation of the force of heart contraction (GO:0002026)|regulation of vasoconstriction (GO:0019229)|relaxation of cardiac muscle (GO:0055119)|response to nicotine (GO:0035094)|sodium ion export from cell (GO:0036376)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|visual learning (GO:0008542)	caveola (GO:0005901)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|endosome (GO:0005768)|plasma membrane (GO:0005886)|sodium:potassium-exchanging ATPase complex (GO:0005890)|synapse (GO:0045202)|T-tubule (GO:0030315)|vesicle (GO:0031982)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|metal ion binding (GO:0046872)|sodium:potassium-exchanging ATPase activity (GO:0005391)|steroid hormone binding (GO:1990239)			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(30)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	69	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			TCTACCAGGTGTGCCTGACCC	0.572																																						ENST00000361216.3																			0				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(30)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	69						c.(1018-1020)gtG>gtA		ATPase, Na+/K+ transporting, alpha 2 polypeptide		G		0,4406		0,0,2203	75	70	72		1020	4.8	1	1	dbSNP_134	72	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	ATP1A2	NM_000702.3		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		340/1021	160098444	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	477				ATP biosynthetic process		ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity	g.chr1:160098444G>A	AB018321	CCDS1196.1	1q23.2	2014-09-17	2010-04-20		ENSG00000018625	ENSG00000018625	3.6.3.9	"ATPases / P-type"	800	protein-coding gene	gene with protein product	"sodium/potassium-transporting ATPase subunit alpha-2", "sodium pump subunit alpha-2", "sodium-potassium ATPase catalytic subunit alpha-2"	182340	"migraine, hemiplegic 2", "ATPase, Na+/K+ transporting, alpha 2 (+) polypeptide"	MHP2		9403481	Standard	NM_000702		Approved	FHM2	uc001fvc.3	P50993	OTTHUMG00000024080	ENST00000361216.3:c.1020G>A	1.37:g.160098444G>A						ATP1A2_ENST00000392233.3_Silent_p.V340V|ATP1A2_ENST00000472488.1_3'UTR	p.V340V	NM_000702.3	NP_000693.1	P50993	AT1A2_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)		9	1109	+	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		340					D3DVE4|Q07059|Q5JW74|Q86UZ5|Q9UQ25	Silent	SNP	ENST00000361216.3	37	c.1020G>A	CCDS1196.1	.	.	.	.	.	.	.	.	.	.	G	12.98	2.101506	0.37048	0.0	1.16E-4	ENSG00000018625	ENST00000447527	.	.	.	4.77	4.77	0.60923	.	.	.	.	.	T	0.55337	0.1914	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.55082	-0.8196	4	.	.	.	.	13.3947	0.60843	0.0:0.1591:0.8409:0.0	.	.	.	.	Y	51	.	.	C	+	2	0	ATP1A2	158365068	1.000000	0.71417	1.000000	0.80357	0.822000	0.46500	1.336000	0.33850	2.359000	0.80004	0.561000	0.74099	TGT		0.572	ATP1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060642.2	NM_000702		10	51	0	0	0	1	0	10	51					A	160098444	G	A	160098444	2	1	435	1	0	0	0	0	0	0	0	1	1129	1364	48	3		3	ATP1A2	1	160098444	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	191811	160098444	89152177	668	21593											
ATP1A4	480	broad.mit.edu	37	chr1	160134088	160134088	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	catctgatcactgtggtggcCgtcttccttggtgtcacttt	4	16	10	11	1	4	1	2	1	2	0	5	1	5	1	2	3	0	0	2	3	0	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:160134088C>T	ENST00000368081.4	+	7	1392	c.921C>T	c.(919-921)gcC>gcT	p.A307A		NM_144699.3	NP_653300.2	Q13733	AT1A4_HUMAN	ATPase, Na+/K+ transporting, alpha 4 polypeptide	307					ATP biosynthetic process (GO:0006754)|ATP hydrolysis coupled proton transport (GO:0015991)|fertilization (GO:0009566)|ion transmembrane transport (GO:0034220)|potassium ion transport (GO:0006813)|regulation of cellular pH (GO:0030641)|regulation of membrane potential (GO:0042391)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|sodium:potassium-exchanging ATPase complex (GO:0005890)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|sodium:potassium-exchanging ATPase activity (GO:0005391)			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(34)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	75	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			CTGTGGTGGCCGTCTTCCTTG	0.522																																						ENST00000368081.4																			0				breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(34)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	75						c.(919-921)gcC>gcT		ATPase, Na+/K+ transporting, alpha 4 polypeptide							330	265	287					1																	160134088		2203	4300	6503	SO:0001819	synonymous_variant	480				ATP biosynthetic process|ATP hydrolysis coupled proton transport|regulation of cellular pH|sperm motility	sodium:potassium-exchanging ATPase complex	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity	g.chr1:160134088C>T	BC028297	CCDS1197.1, CCDS44255.1	1q23.2	2012-10-22	2002-02-25		ENSG00000132681	ENSG00000132681		"ATPases / P-type"	14073	protein-coding gene	gene with protein product	"sodium/potassium-transporting ATPase subunit alpha-4", "sodium pump subunit alpha-4", "sodium-potassium ATPase catalytic subunit alpha-4"	607321	"ATPase, Na+/K+ transporting, alpha polypeptide-like 2"	ATP1AL2		1981991, 3035563	Standard	NM_144699		Approved		uc001fve.4	Q13733	OTTHUMG00000031609	ENST00000368081.4:c.921C>T	1.37:g.160134088C>T							p.A307A	NM_144699.3	NP_653300.2	Q13733	AT1A4_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)		7	1392	+	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		307					Q504T2|Q7Z4I9|Q8TBN8|Q8WXA7|Q8WXH7|Q8WY13	Silent	SNP	ENST00000368081.4	37	c.921C>T	CCDS1197.1																																																																																				0.522	ATP1A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077415.1	NM_144699		60	67	0	0	0	1	0	60	67					T	160134088	C	T	160134088	2	4	435	1	0	0	0	0	0	0	0	1	1131	639	23	2		2	ATP1A4	1	160134088	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	35644	160134088	89116533	669	21594											
ATP1A4	480	broad.mit.edu	37	chr1	160151799	160151799	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	acactccaggcatggacgtgGccctgcgaatgtacccactc	9	7	10	15	2	0	0	0	0	0	0	2	2	1	1	3	3	2	2	3	3	2	1	rs200603421		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:160151799G>A	ENST00000368081.4	+	20	3418	c.2947G>A	c.(2947-2949)Gcc>Acc	p.A983T	ATP1A4_ENST00000418334.1_3'UTR|ATP1A4_ENST00000470705.1_Missense_Mutation_p.A119T	NM_144699.3	NP_653300.2	Q13733	AT1A4_HUMAN	ATPase, Na+/K+ transporting, alpha 4 polypeptide	983					ATP biosynthetic process (GO:0006754)|ATP hydrolysis coupled proton transport (GO:0015991)|fertilization (GO:0009566)|ion transmembrane transport (GO:0034220)|potassium ion transport (GO:0006813)|regulation of cellular pH (GO:0030641)|regulation of membrane potential (GO:0042391)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|sodium:potassium-exchanging ATPase complex (GO:0005890)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|sodium:potassium-exchanging ATPase activity (GO:0005391)			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(34)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	75	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			CATGGACGTGGCCCTGCGAAT	0.517																																						ENST00000368081.4																			0				breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(34)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	75						c.(2947-2949)Gcc>Acc		ATPase, Na+/K+ transporting, alpha 4 polypeptide		G	THR/ALA,THR/ALA	0,4406		0,0,2203	105	100	102		355,2947	2.3	0.6	1		102	1,8599		0,1,4299	yes	missense,missense	ATP1A4	NM_001001734.1,NM_144699.3	58,58	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign,benign	119/166,983/1030	160151799	1,13005	2203	4300	6503	SO:0001583	missense	480				ATP biosynthetic process|ATP hydrolysis coupled proton transport|regulation of cellular pH|sperm motility	sodium:potassium-exchanging ATPase complex	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity	g.chr1:160151799G>A	BC028297	CCDS1197.1, CCDS44255.1	1q23.2	2012-10-22	2002-02-25		ENSG00000132681	ENSG00000132681		"ATPases / P-type"	14073	protein-coding gene	gene with protein product	"sodium/potassium-transporting ATPase subunit alpha-4", "sodium pump subunit alpha-4", "sodium-potassium ATPase catalytic subunit alpha-4"	607321	"ATPase, Na+/K+ transporting, alpha polypeptide-like 2"	ATP1AL2		1981991, 3035563	Standard	NM_144699		Approved		uc001fve.4	Q13733	OTTHUMG00000031609	ENST00000368081.4:c.2947G>A	1.37:g.160151799G>A	ENSP00000357060:p.Ala983Thr					ATP1A4_ENST00000418334.1_3'UTR|ATP1A4_ENST00000470705.1_Missense_Mutation_p.A119T	p.A983T	NM_144699.3	NP_653300.2	Q13733	AT1A4_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)		20	3418	+	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		983					Q504T2|Q7Z4I9|Q8TBN8|Q8WXA7|Q8WXH7|Q8WY13	Missense_Mutation	SNP	ENST00000368081.4	37	c.2947G>A	CCDS1197.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.175610	0.78564	0.0	1.16E-4	ENSG00000132681	ENST00000368081;ENST00000470705	D;D	0.95980	-3.87;-3.87	4.26	2.35	0.29111	ATPase, P-type cation-transporter, C-terminal (1);ATPase, P-type,  transmembrane domain (1);	0.060305	0.64402	D	0.000005	D	0.92535	0.7629	L	0.55834	1.745	0.36975	D	0.894011	P	0.43287	0.802	P	0.51193	0.662	D	0.91181	0.4976	10	0.87932	D	0	.	7.1206	0.25442	0.0938:0.0:0.7367:0.1695	.	983	Q13733	AT1A4_HUMAN	T	983;119	ENSP00000357060:A983T;ENSP00000433094:A119T	ENSP00000357060:A983T	A	+	1	0	ATP1A4	158418423	1.000000	0.71417	0.561000	0.28357	0.969000	0.65631	7.683000	0.84093	0.537000	0.28751	0.455000	0.32223	GCC		0.517	ATP1A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077415.1	NM_144699		58	65	0	0	0	1	0	58	65					A	160151799	G	A	160151799	3	1	435	1	0	0	0	0	1	0	0	0	1131	1203	42	3	3025	3	ATP1A4	1	160151799	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	17711	160151799	89098822	670	21595											
PEA15	8682	broad.mit.edu	37	chr1	160182919	160182919	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gacaacctctcctacattgaGcacatctttgagatctcccg	10	11	6	14	1	3	2	0	2	3	1	5	4	3	2	3	0	3	1	3	0	2	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:160182919G>A	ENST00000360472.4	+	3	380	c.192G>A	c.(190-192)gaG>gaA	p.E64E	PEA15_ENST00000368077.1_Silent_p.E42E|PEA15_ENST00000368076.1_Silent_p.E85E|PEA15_ENST00000488858.1_3'UTR	NM_003768.3	NP_003759.1	Q15121	PEA15_HUMAN	phosphoprotein enriched in astrocytes 15	64	DED. {ECO:0000255|PROSITE- ProRule:PRU00065}.				apoptotic process (GO:0006915)|carbohydrate transport (GO:0008643)|DNA damage checkpoint (GO:0000077)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of glucose import (GO:0046325)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|response to morphine (GO:0043278)|transport (GO:0006810)	cytoplasm (GO:0005737)|microtubule associated complex (GO:0005875)				large_intestine(1)|lung(4)	5	all_cancers(52;3.11e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			CCTACATTGAGCACATCTTTG	0.537																																						ENST00000368076.1																			0				large_intestine(1)|lung(4)	5						c.(253-255)gaG>gaA		phosphoprotein enriched in astrocytes 15							206	179	188					1																	160182919		2203	4300	6503	SO:0001819	synonymous_variant	8682				anti-apoptosis|apoptosis|carbohydrate transport|negative regulation of glucose import	cytoplasm|microtubule associated complex	protein binding	g.chr1:160182919G>A	Y13736	CCDS1199.1, CCDS72954.1	1q21.1	2008-07-18			ENSG00000162734	ENSG00000162734			8822	protein-coding gene	gene with protein product	"Phosphoprotein enriched in astrocytes, 15kD", "homolog of mouse MAT-1 oncogene"	603434				9205133	Standard	XM_005245564		Approved	HMAT1, MAT1, PED, PEA-15, MAT1H, HUMMAT1H	uc001fvk.3	Q15121	OTTHUMG00000031605	ENST00000360472.4:c.192G>A	1.37:g.160182919G>A						PEA15_ENST00000488858.1_3'UTR|PEA15_ENST00000368077.1_Silent_p.E42E|PEA15_ENST00000360472.4_Silent_p.E64E	p.E85E			Q15121	PEA15_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)		5	603	+	all_cancers(52;3.11e-18)|all_hematologic(112;0.093)		64					B1AKZ3|O00511	Silent	SNP	ENST00000360472.4	37	c.255G>A	CCDS1199.1																																																																																				0.537	PEA15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077407.1	NM_003768		6	66	0	0	0	1	0	6	66					A	160182919	G	A	160182919	2	1	435	1	0	0	0	0	0	0	0	1	11711	962	34	3		3	PEA15	1	160182919	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	31120	160182919	89067702	671	21596											
COPA	1314	broad.mit.edu	37	chr1	160309737	160309737	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tcctccagagacgaacagtgGctgctgcttatggaagtcaa	11	9	11	10	1	1	1	1	0	0	1	3	4	3	2	2	2	3	3	2	2	4	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:160309737G>A	ENST00000241704.7	-	3	419	c.190C>T	c.(190-192)Cca>Tca	p.P64S	COPA_ENST00000368069.3_Missense_Mutation_p.P64S	NM_001098398.1|NM_004371.3	NP_001091868.1|NP_004362.2	P53621	COPA_HUMAN	coatomer protein complex, subunit alpha	64					COPI coating of Golgi vesicle (GO:0048205)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|pancreatic juice secretion (GO:0030157)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	COPI vesicle coat (GO:0030126)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2)	46	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			ACGAACAGTGGCTGCTGCTTA	0.458																																						ENST00000241704.7																			0				central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2)	46						c.(190-192)Cca>Tca		coatomer protein complex, subunit alpha							119	123	122					1																	160309737		2203	4300	6503	SO:0001583	missense	1314				COPI coating of Golgi vesicle|intracellular protein transport|pancreatic juice secretion|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol|extracellular space|microsome|soluble fraction	hormone activity|structural molecule activity	g.chr1:160309737G>A	U24105	CCDS1202.1, CCDS41424.1	1q23.2	2014-01-30			ENSG00000122218	ENSG00000122218		"WD repeat domain containing", "Endogenous ligands"	2230	protein-coding gene	gene with protein product	"proxenin", "xenin"	601924				8647451	Standard	NM_004371		Approved	HEP-COP	uc001fvv.4	P53621	OTTHUMG00000033111	ENST00000241704.7:c.190C>T	1.37:g.160309737G>A	ENSP00000241704:p.Pro64Ser					COPA_ENST00000368069.3_Missense_Mutation_p.P64S	p.P64S	NM_001098398.1|NM_004371.3	NP_001091868.1|NP_004362.2	P53621	COPA_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)		3	419	-	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		64					Q5T201|Q8IXZ9	Missense_Mutation	SNP	ENST00000241704.7	37	c.190C>T	CCDS1202.1	.	.	.	.	.	.	.	.	.	.	G	34	5.347417	0.95807	.	.	ENSG00000122218	ENST00000368069;ENST00000241704	T;T	0.60797	0.16;0.16	5.56	5.56	0.83823	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.60287	0.2257	N	0.25332	0.735	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.66027	-0.6025	10	0.87932	D	0	-10.1612	18.0991	0.89500	0.0:0.0:1.0:0.0	.	64;64	P53621;P53621-2	COPA_HUMAN;.	S	64	ENSP00000357048:P64S;ENSP00000241704:P64S	ENSP00000241704:P64S	P	-	1	0	COPA	158576361	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.177000	0.94849	2.607000	0.88179	0.655000	0.94253	CCA		0.458	COPA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080638.1	NM_004371		23	35	0	0	0	1	0	23	35					A	160309737	G	A	160309737	3	1	435	1	0	0	0	0	1	0	0	0	3727	1203	42	3	3635	3	COPA	1	160309737	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	126818	160309737	88940884	672	21597											
VANGL2	57216	broad.mit.edu	37	chr1	160385872	160385872	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggaccgccgggaccgacaccGctctaagagtcgagatgggg	9	4	16	12	5	1	2	0	0	1	2	2	6	1	4	4	4	0	1	4	4	1	1	rs574127533	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:160385872G>A	ENST00000368061.2	+	3	566	c.92G>A	c.(91-93)cGc>cAc	p.R31H		NM_020335.2	NP_065068.1	Q9ULK5	VANG2_HUMAN	VANGL planar cell polarity protein 2	31					anterior/posterior pattern specification (GO:0009952)|apical protein localization (GO:0045176)|cell migration involved in kidney development (GO:0035787)|cochlea morphogenesis (GO:0090103)|convergent extension involved in axis elongation (GO:0060028)|convergent extension involved in neural plate elongation (GO:0022007)|digestive tract morphogenesis (GO:0048546)|establishment of body hair planar orientation (GO:0048105)|establishment of planar polarity (GO:0001736)|establishment of planar polarity involved in neural tube closure (GO:0090177)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|glomerulus development (GO:0032835)|hair follicle development (GO:0001942)|heart looping (GO:0001947)|inner ear receptor stereocilium organization (GO:0060122)|kidney morphogenesis (GO:0060993)|lateral sprouting involved in lung morphogenesis (GO:0060490)|membranous septum morphogenesis (GO:0003149)|muscular septum morphogenesis (GO:0003150)|neural tube closure (GO:0001843)|nonmotile primary cilium assembly (GO:0035058)|orthogonal dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060488)|planar cell polarity pathway involved in axis elongation (GO:0003402)|planar cell polarity pathway involved in heart morphogenesis (GO:0061346)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|planar dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060489)|positive regulation of JUN kinase activity (GO:0043507)|post-anal tail morphogenesis (GO:0036342)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of Wnt signaling pathway (GO:0030111)|Rho protein signal transduction (GO:0007266)|somatic stem cell division (GO:0048103)|somatic stem cell maintenance (GO:0035019)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell pole (GO:0060187)|cell-cell junction (GO:0005911)|ER to Golgi transport vesicle (GO:0030134)|integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)				biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(1)	37	all_cancers(52;1.08e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			GACCGACACCGCTCTAAGAGT	0.637													g|||	2	0.000399361	0	0	5008	,	,		15997	0.002		0	False		,,,				2504	0					ENST00000368061.2																			0				biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(1)	37						c.(91-93)cGc>cAc		VANGL planar cell polarity protein 2							38	44	42					1																	160385872		2203	4300	6503	SO:0001583	missense	57216				apical protein localization|heart looping|nonmotile primary cilium assembly	apical plasma membrane|integral to membrane		g.chr1:160385872G>A	AB033041	CCDS30915.1	1q22-q23	2013-03-05	2013-03-05		ENSG00000162738	ENSG00000162738			15511	protein-coding gene	gene with protein product	"vang, van gogh-like 2", "loop-tail-associated protein", "strabismus"	600533	"vang (van gogh, Drosophila)-like 2, vang, van gogh-like 2 (Drosophila)", "vang-like 2 (van gogh, Drosophila)"			11431695	Standard	NM_020335		Approved	KIAA1215, LTAP, LPP1, STBM, STB1, STBM1, MGC119403, MGC119404	uc001fwc.2	Q9ULK5	OTTHUMG00000033122	ENST00000368061.2:c.92G>A	1.37:g.160385872G>A	ENSP00000357040:p.Arg31His						p.R31H	NM_020335.2	NP_065068.1	Q9ULK5	VANG2_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)		3	566	+	all_cancers(52;1.08e-18)|all_hematologic(112;0.093)		31					D3DVE9|Q5T212	Missense_Mutation	SNP	ENST00000368061.2	37	c.92G>A	CCDS30915.1	.	.	.	.	.	.	.	.	.	.	G	19.85	3.904582	0.72868	.	.	ENSG00000162738	ENST00000368061	T	0.80909	-1.43	4.65	4.65	0.58169	.	0.000000	0.64402	D	0.000001	T	0.78033	0.4220	L	0.28400	0.85	0.48632	D	0.999681	D	0.76494	0.999	D	0.63957	0.92	T	0.78555	-0.2159	10	0.40728	T	0.16	-22.6432	15.0658	0.71992	0.0:0.0:1.0:0.0	.	31	Q9ULK5	VANG2_HUMAN	H	31	ENSP00000357040:R31H	ENSP00000357040:R31H	R	+	2	0	VANGL2	158652496	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	5.021000	0.64072	2.413000	0.81919	0.461000	0.40582	CGC		0.637	VANGL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080677.1	NM_020335		10	22	0	0	0	1	0	10	22					A	160385872	G	A	160385872	3	1	435	1	0	0	0	0	1	0	0	0	17117	1087	38	1	98	1	VANGL2	1	160385872	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	76135	160385872	88864749	673	21598											
VANGL2	57216	broad.mit.edu	37	chr1	160389121	160389121	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttccgccggcccaaggcctcGctgccccgcgtctttgtgct	2	10	11	18	5	1	0	0	0	1	0	3	0	2	0	6	2	2	2	6	2	1	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:160389121G>A	ENST00000368061.2	+	4	996	c.522G>A	c.(520-522)tcG>tcA	p.S174S		NM_020335.2	NP_065068.1	Q9ULK5	VANG2_HUMAN	VANGL planar cell polarity protein 2	174					anterior/posterior pattern specification (GO:0009952)|apical protein localization (GO:0045176)|cell migration involved in kidney development (GO:0035787)|cochlea morphogenesis (GO:0090103)|convergent extension involved in axis elongation (GO:0060028)|convergent extension involved in neural plate elongation (GO:0022007)|digestive tract morphogenesis (GO:0048546)|establishment of body hair planar orientation (GO:0048105)|establishment of planar polarity (GO:0001736)|establishment of planar polarity involved in neural tube closure (GO:0090177)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|glomerulus development (GO:0032835)|hair follicle development (GO:0001942)|heart looping (GO:0001947)|inner ear receptor stereocilium organization (GO:0060122)|kidney morphogenesis (GO:0060993)|lateral sprouting involved in lung morphogenesis (GO:0060490)|membranous septum morphogenesis (GO:0003149)|muscular septum morphogenesis (GO:0003150)|neural tube closure (GO:0001843)|nonmotile primary cilium assembly (GO:0035058)|orthogonal dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060488)|planar cell polarity pathway involved in axis elongation (GO:0003402)|planar cell polarity pathway involved in heart morphogenesis (GO:0061346)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|planar dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060489)|positive regulation of JUN kinase activity (GO:0043507)|post-anal tail morphogenesis (GO:0036342)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of Wnt signaling pathway (GO:0030111)|Rho protein signal transduction (GO:0007266)|somatic stem cell division (GO:0048103)|somatic stem cell maintenance (GO:0035019)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell pole (GO:0060187)|cell-cell junction (GO:0005911)|ER to Golgi transport vesicle (GO:0030134)|integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)				biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(1)	37	all_cancers(52;1.08e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			CCAAGGCCTCGCTGCCCCGCG	0.627																																						ENST00000368061.2																			0				biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(1)	37						c.(520-522)tcG>tcA		VANGL planar cell polarity protein 2							100	90	93					1																	160389121		2203	4300	6503	SO:0001819	synonymous_variant	57216				apical protein localization|heart looping|nonmotile primary cilium assembly	apical plasma membrane|integral to membrane		g.chr1:160389121G>A	AB033041	CCDS30915.1	1q22-q23	2013-03-05	2013-03-05		ENSG00000162738	ENSG00000162738			15511	protein-coding gene	gene with protein product	"vang, van gogh-like 2", "loop-tail-associated protein", "strabismus"	600533	"vang (van gogh, Drosophila)-like 2, vang, van gogh-like 2 (Drosophila)", "vang-like 2 (van gogh, Drosophila)"			11431695	Standard	NM_020335		Approved	KIAA1215, LTAP, LPP1, STBM, STB1, STBM1, MGC119403, MGC119404	uc001fwc.2	Q9ULK5	OTTHUMG00000033122	ENST00000368061.2:c.522G>A	1.37:g.160389121G>A							p.S174S	NM_020335.2	NP_065068.1	Q9ULK5	VANG2_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)		4	996	+	all_cancers(52;1.08e-18)|all_hematologic(112;0.093)		174					D3DVE9|Q5T212	Silent	SNP	ENST00000368061.2	37	c.522G>A	CCDS30915.1																																																																																				0.627	VANGL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080677.1	NM_020335		30	34	0	0	0	1	0	30	34					A	160389121	G	A	160389121	2	1	435	1	0	0	0	0	0	0	0	1	17117	1074	38	1		1	VANGL2	1	160389121	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	3249	160389121	88861500	674	21599											
VANGL2	57216	broad.mit.edu	37	chr1	160390904	160390904	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgcagcggcagctcggaggCgggacaacagtcacaatgag	11	5	15	10	3	1	1	1	1	0	0	2	3	1	3	0	4	4	3	0	4	2	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:160390904C>T	ENST00000368061.2	+	6	1474	c.1000C>T	c.(1000-1002)Cgg>Tgg	p.R334W	VANGL2_ENST00000483408.1_3'UTR	NM_020335.2	NP_065068.1	Q9ULK5	VANG2_HUMAN	VANGL planar cell polarity protein 2	334					anterior/posterior pattern specification (GO:0009952)|apical protein localization (GO:0045176)|cell migration involved in kidney development (GO:0035787)|cochlea morphogenesis (GO:0090103)|convergent extension involved in axis elongation (GO:0060028)|convergent extension involved in neural plate elongation (GO:0022007)|digestive tract morphogenesis (GO:0048546)|establishment of body hair planar orientation (GO:0048105)|establishment of planar polarity (GO:0001736)|establishment of planar polarity involved in neural tube closure (GO:0090177)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|glomerulus development (GO:0032835)|hair follicle development (GO:0001942)|heart looping (GO:0001947)|inner ear receptor stereocilium organization (GO:0060122)|kidney morphogenesis (GO:0060993)|lateral sprouting involved in lung morphogenesis (GO:0060490)|membranous septum morphogenesis (GO:0003149)|muscular septum morphogenesis (GO:0003150)|neural tube closure (GO:0001843)|nonmotile primary cilium assembly (GO:0035058)|orthogonal dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060488)|planar cell polarity pathway involved in axis elongation (GO:0003402)|planar cell polarity pathway involved in heart morphogenesis (GO:0061346)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|planar dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060489)|positive regulation of JUN kinase activity (GO:0043507)|post-anal tail morphogenesis (GO:0036342)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of Wnt signaling pathway (GO:0030111)|Rho protein signal transduction (GO:0007266)|somatic stem cell division (GO:0048103)|somatic stem cell maintenance (GO:0035019)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell pole (GO:0060187)|cell-cell junction (GO:0005911)|ER to Golgi transport vesicle (GO:0030134)|integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)				biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(1)	37	all_cancers(52;1.08e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			AGCTCGGAGGCGGGACAACAG	0.577																																						ENST00000368061.2																			0				biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(1)	37						c.(1000-1002)Cgg>Tgg		VANGL planar cell polarity protein 2							78	67	71					1																	160390904		2203	4300	6503	SO:0001583	missense	57216				apical protein localization|heart looping|nonmotile primary cilium assembly	apical plasma membrane|integral to membrane		g.chr1:160390904C>T	AB033041	CCDS30915.1	1q22-q23	2013-03-05	2013-03-05		ENSG00000162738	ENSG00000162738			15511	protein-coding gene	gene with protein product	"vang, van gogh-like 2", "loop-tail-associated protein", "strabismus"	600533	"vang (van gogh, Drosophila)-like 2, vang, van gogh-like 2 (Drosophila)", "vang-like 2 (van gogh, Drosophila)"			11431695	Standard	NM_020335		Approved	KIAA1215, LTAP, LPP1, STBM, STB1, STBM1, MGC119403, MGC119404	uc001fwc.2	Q9ULK5	OTTHUMG00000033122	ENST00000368061.2:c.1000C>T	1.37:g.160390904C>T	ENSP00000357040:p.Arg334Trp					VANGL2_ENST00000483408.1_3'UTR	p.R334W	NM_020335.2	NP_065068.1	Q9ULK5	VANG2_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)		6	1474	+	all_cancers(52;1.08e-18)|all_hematologic(112;0.093)		334					D3DVE9|Q5T212	Missense_Mutation	SNP	ENST00000368061.2	37	c.1000C>T	CCDS30915.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.207769	0.79240	.	.	ENSG00000162738	ENST00000368061	D	0.84370	-1.84	5.75	4.81	0.61882	.	0.000000	0.85682	D	0.000000	D	0.90971	0.7161	M	0.85945	2.785	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	D	0.92588	0.6080	10	0.87932	D	0	-28.3442	13.541	0.61674	0.1571:0.8429:0.0:0.0	.	334	Q9ULK5	VANG2_HUMAN	W	334	ENSP00000357040:R334W	ENSP00000357040:R334W	R	+	1	2	VANGL2	158657528	0.940000	0.31905	1.000000	0.80357	0.994000	0.84299	0.086000	0.14935	1.364000	0.46038	0.655000	0.94253	CGG		0.577	VANGL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080677.1	NM_020335		9	16	0	0	0	1	0	9	16					T	160390904	C	T	160390904	3	4	435	1	0	0	0	0	1	0	0	0	17117	759	27	1	1018	1	VANGL2	1	160390904	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	1783	160390904	88859717	675	21600											
VANGL2	57216	broad.mit.edu	37	chr1	160395031	160395031	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acggcctcaaggatggcatcGttttcctcttaaaacgccag	10	10	9	12	3	2	0	1	0	1	0	4	1	3	1	3	3	1	2	3	3	3	3	rs372488057		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:160395031G>A	ENST00000368061.2	+	8	1903	c.1429G>A	c.(1429-1431)Gtt>Att	p.V477I		NM_020335.2	NP_065068.1	Q9ULK5	VANG2_HUMAN	VANGL planar cell polarity protein 2	477					anterior/posterior pattern specification (GO:0009952)|apical protein localization (GO:0045176)|cell migration involved in kidney development (GO:0035787)|cochlea morphogenesis (GO:0090103)|convergent extension involved in axis elongation (GO:0060028)|convergent extension involved in neural plate elongation (GO:0022007)|digestive tract morphogenesis (GO:0048546)|establishment of body hair planar orientation (GO:0048105)|establishment of planar polarity (GO:0001736)|establishment of planar polarity involved in neural tube closure (GO:0090177)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|glomerulus development (GO:0032835)|hair follicle development (GO:0001942)|heart looping (GO:0001947)|inner ear receptor stereocilium organization (GO:0060122)|kidney morphogenesis (GO:0060993)|lateral sprouting involved in lung morphogenesis (GO:0060490)|membranous septum morphogenesis (GO:0003149)|muscular septum morphogenesis (GO:0003150)|neural tube closure (GO:0001843)|nonmotile primary cilium assembly (GO:0035058)|orthogonal dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060488)|planar cell polarity pathway involved in axis elongation (GO:0003402)|planar cell polarity pathway involved in heart morphogenesis (GO:0061346)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|planar dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060489)|positive regulation of JUN kinase activity (GO:0043507)|post-anal tail morphogenesis (GO:0036342)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of Wnt signaling pathway (GO:0030111)|Rho protein signal transduction (GO:0007266)|somatic stem cell division (GO:0048103)|somatic stem cell maintenance (GO:0035019)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell pole (GO:0060187)|cell-cell junction (GO:0005911)|ER to Golgi transport vesicle (GO:0030134)|integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)				biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(1)	37	all_cancers(52;1.08e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			GGATGGCATCGTTTTCCTCTT	0.542																																						ENST00000368061.2																			0				biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(1)	37						c.(1429-1431)Gtt>Att		VANGL planar cell polarity protein 2							93	80	85					1																	160395031		2203	4300	6503	SO:0001583	missense	57216				apical protein localization|heart looping|nonmotile primary cilium assembly	apical plasma membrane|integral to membrane		g.chr1:160395031G>A	AB033041	CCDS30915.1	1q22-q23	2013-03-05	2013-03-05		ENSG00000162738	ENSG00000162738			15511	protein-coding gene	gene with protein product	"vang, van gogh-like 2", "loop-tail-associated protein", "strabismus"	600533	"vang (van gogh, Drosophila)-like 2, vang, van gogh-like 2 (Drosophila)", "vang-like 2 (van gogh, Drosophila)"			11431695	Standard	NM_020335		Approved	KIAA1215, LTAP, LPP1, STBM, STB1, STBM1, MGC119403, MGC119404	uc001fwc.2	Q9ULK5	OTTHUMG00000033122	ENST00000368061.2:c.1429G>A	1.37:g.160395031G>A	ENSP00000357040:p.Val477Ile						p.V477I	NM_020335.2	NP_065068.1	Q9ULK5	VANG2_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)		8	1903	+	all_cancers(52;1.08e-18)|all_hematologic(112;0.093)		477					D3DVE9|Q5T212	Missense_Mutation	SNP	ENST00000368061.2	37	c.1429G>A	CCDS30915.1	.	.	.	.	.	.	.	.	.	.	G	16.30	3.083954	0.55861	.	.	ENSG00000162738	ENST00000368061	T	0.81163	-1.46	4.17	3.26	0.37387	.	0.157867	0.41823	D	0.000819	T	0.79569	0.4468	L	0.54908	1.71	0.45108	D	0.998126	D	0.76494	0.999	D	0.74674	0.984	T	0.76526	-0.2927	10	0.20519	T	0.43	-1.2186	12.1885	0.54254	0.0:0.0:0.8274:0.1726	.	477	Q9ULK5	VANG2_HUMAN	I	477	ENSP00000357040:V477I	ENSP00000357040:V477I	V	+	1	0	VANGL2	158661655	1.000000	0.71417	0.943000	0.38184	0.910000	0.53928	7.703000	0.84585	0.946000	0.37632	-0.188000	0.12872	GTT		0.542	VANGL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080677.1	NM_020335		19	24	0	0	0	1	0	19	24					A	160395031	G	A	160395031	3	1	435	1	0	0	0	0	1	0	0	0	17117	1145	40	1	1455	1	VANGL2	1	160395031	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	4127	160395031	88855590	676	21601											
CD48	962	broad.mit.edu	37	chr1	160681528	160681528	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtagcaattccagagccagaCacgaatcccaacctctggag	13	6	9	13	1	1	2	0	0	1	2	3	4	3	3	4	1	3	2	4	1	4	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:160681528C>T	ENST00000368046.3	-	1	113	c.26G>A	c.(25-27)tGt>tAt	p.C9Y	CD48_ENST00000368045.3_Missense_Mutation_p.C9Y	NM_001778.3	NP_001769.2	P09326	CD48_HUMAN	CD48 molecule	9					blood coagulation (GO:0007596)|defense response (GO:0006952)|leukocyte migration (GO:0050900)|mast cell activation (GO:0045576)|signal transduction (GO:0007165)|T cell activation (GO:0042110)	anchored component of plasma membrane (GO:0046658)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	antigen binding (GO:0003823)|receptor activity (GO:0004872)			breast(2)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|stomach(1)	10	all_cancers(52;2.18e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)			CAGAGCCAGACACGAATCCCA	0.522																																						ENST00000368045.3																			0				breast(2)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|stomach(1)	10						c.(25-27)tGt>tAt		CD48 molecule							121	97	105					1																	160681528		2203	4300	6503	SO:0001583	missense	962				blood coagulation|defense response|leukocyte migration	integral to plasma membrane|membrane raft	protein binding	g.chr1:160681528C>T	BC016182	CCDS1208.1, CCDS72955.1	1q21.3-q22	2013-01-29	2006-03-31		ENSG00000117091	ENSG00000117091		"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	1683	protein-coding gene	gene with protein product		109530	"CD48 antigen (B-cell membrane protein)", "CD48 molecule "	BCM1		2828034	Standard	NM_001256030		Approved	BLAST, mCD48, hCD48, SLAMF2	uc001fwo.2	P09326	OTTHUMG00000024009	ENST00000368046.3:c.26G>A	1.37:g.160681528C>T	ENSP00000357025:p.Cys9Tyr					CD48_ENST00000368046.3_Missense_Mutation_p.C9Y	p.C9Y			P09326	CD48_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.0175)		1	65	-	all_cancers(52;2.18e-17)|all_hematologic(112;0.093)		9					Q5U055|Q8MGR0	Missense_Mutation	SNP	ENST00000368046.3	37	c.26G>A	CCDS1208.1	.	.	.	.	.	.	.	.	.	.	C	8.604	0.887484	0.17540	.	.	ENSG00000117091	ENST00000368046;ENST00000368045	T;T	0.48522	4.01;0.81	4.24	-8.06	0.01102	.	1.670180	0.02540	N	0.094560	T	0.09069	0.0224	N	0.17082	0.46	0.09310	N	1	B;B;B	0.21821	0.028;0.061;0.028	B;B;B	0.19391	0.025;0.025;0.014	T	0.05886	-1.0858	10	0.72032	D	0.01	1.6809	1.0173	0.01510	0.4151:0.1902:0.1031:0.2916	.	9;9;9	Q8MGR0;Q6IAZ2;P09326	.;.;CD48_HUMAN	Y	9	ENSP00000357025:C9Y;ENSP00000357024:C9Y	ENSP00000357024:C9Y	C	-	2	0	CD48	158948152	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-1.946000	0.01536	-1.835000	0.01191	0.655000	0.94253	TGT		0.522	CD48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060471.1	NM_001778		14	17	0	0	0	1	0	14	17					T	160681528	C	T	160681528	3	4	435	1	0	0	0	0	1	0	0	0	3020	478	17	3	721	3	CD48	1	160681528	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	286497	160681528	88569093	677	21602											
LY9	4063	broad.mit.edu	37	chr1	160769675	160769675	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctggattggtcccaaaaatgCtcttgctttcgcacgtccca	8	12	8	13	2	1	0	0	0	1	0	4	1	3	1	2	2	2	3	2	2	2	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:160769675C>A	ENST00000263285.6	+	2	287	c.257C>A	c.(256-258)gCt>gAt	p.A86D	LY9_ENST00000471816.1_3'UTR|LY9_ENST00000341032.4_Missense_Mutation_p.A86D|LY9_ENST00000368037.5_Missense_Mutation_p.A86D|LY9_ENST00000368041.2_Missense_Mutation_p.A46D|LY9_ENST00000368040.1_5'UTR|LY9_ENST00000392203.4_Missense_Mutation_p.A86D|LY9_ENST00000368039.2_Missense_Mutation_p.A86D			Q9HBG7	LY9_HUMAN	lymphocyte antigen 9	86	Ig-like V-type 1.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			CCCAAAAATGCTCTTGCTTTC	0.493																																						ENST00000263285.5																			0				autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36						c.(256-258)gCt>gAt		lymphocyte antigen 9							98	94	95					1																	160769675		2203	4300	6503	SO:0001583	missense	4063				cell adhesion|immunoglobulin mediated immune response	integral to membrane		g.chr1:160769675C>A	L42621	CCDS30916.1, CCDS30917.1, CCDS65695.1, CCDS65696.1	1q23.3	2013-01-11			ENSG00000122224	ENSG00000122224		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6730	protein-coding gene	gene with protein product		600684				8537117, 7797269	Standard	NM_001261457		Approved	CD229, mLY9, SLAMF3, hly9	uc001fwu.4	Q9HBG7	OTTHUMG00000024007	ENST00000263285.6:c.257C>A	1.37:g.160769675C>A	ENSP00000263285:p.Ala86Asp					LY9_ENST00000341032.4_Missense_Mutation_p.A86D|LY9_ENST00000471816.1_3'UTR|LY9_ENST00000368040.1_5'UTR|LY9_ENST00000368041.2_Missense_Mutation_p.A46D|LY9_ENST00000368039.2_Missense_Mutation_p.A86D	p.A86D	NM_001261456.1|NM_002348.3	NP_001248385.1|NP_002339.2	Q9HBG7	LY9_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00737)		2	287	+	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)		86			Ig-like V-type 1.		A8K7N3|Q14775|Q5VYI3|Q6P2J4|Q9H4N5|Q9NQ24	Missense_Mutation	SNP	ENST00000263285.6	37	c.257C>A	CCDS30916.1	.	.	.	.	.	.	.	.	.	.	C	14.87	2.665782	0.47677	.	.	ENSG00000122224	ENST00000368041;ENST00000341032;ENST00000263285;ENST00000542780;ENST00000368039;ENST00000392203;ENST00000368037	T;T;T;T	0.64991	1.81;1.95;1.95;-0.13	4.04	3.11	0.35812	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	1.890310	0.02872	N	0.131793	T	0.69342	0.3100	M	0.76574	2.34	0.20926	N	0.999828	D;D;D;D;D;D	0.76494	0.999;0.982;0.997;0.998;0.999;0.999	D;P;P;D;D;D	0.72982	0.979;0.706;0.879;0.943;0.946;0.966	T	0.48747	-0.9008	10	0.66056	D	0.02	-5.1592	6.9202	0.24383	0.0:0.8758:0.0:0.1242	.	86;46;86;86;86;86	B4E0J5;Q5VYH9;E7EME5;Q9HBG7-2;Q9HBG7;Q6P2J4	.;.;.;.;LY9_HUMAN;.	D	86;86;86;86;86;46;46	ENSP00000357020:A86D;ENSP00000342921:A86D;ENSP00000263285:A86D;ENSP00000357018:A86D	ENSP00000263285:A86D	A	+	2	0	LY9	159036299	0.000000	0.05858	0.004000	0.12327	0.005000	0.04900	-0.267000	0.08619	2.225000	0.72522	0.563000	0.77884	GCT		0.493	LY9-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060457.3	NM_002348		27	30	1	0	1.5548e-18	1	1.71633e-18	27	30					A	160769675	C	A	160769675	3	1	435	1	0	0	0	0	1	0	0	0	9101	797	28	5	263	5	LY9	1	160769675	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	88147	160769675	88480946	678	21603											
ITLN1	55600	broad.mit.edu	37	chr1	160851031	160851031	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agggagctgtttctccagtgCtgcatgggggacttattggg	6	12	16	7	0	1	0	0	0	1	0	2	2	1	2	1	4	3	4	1	4	1	3	rs200950973		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:160851031C>A	ENST00000326245.3	-	5	592	c.477G>T	c.(475-477)caG>caT	p.Q159H	ITLN1_ENST00000487531.1_5'UTR	NM_017625.2	NP_060095.2	Q8WWA0	ITLN1_HUMAN	intelectin 1 (galactofuranose binding)	159	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				positive regulation of glucose import (GO:0046326)|positive regulation of protein phosphorylation (GO:0001934)|response to nematode (GO:0009624)	anchored component of membrane (GO:0031225)|brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|membrane raft (GO:0045121)|receptor complex (GO:0043235)	carbohydrate binding (GO:0030246)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	21	all_cancers(52;2.99e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			TTCTCCAGTGCTGCATGGGGG	0.562																																						ENST00000326245.3																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	21						c.(475-477)caG>caT		intelectin 1 (galactofuranose binding)							182	149	160					1																	160851031		2203	4300	6503	SO:0001583	missense	55600				positive regulation of glucose import|positive regulation of protein phosphorylation|response to nematode|signal transduction	anchored to membrane|brush border membrane|extracellular region|membrane raft	receptor binding|sugar binding	g.chr1:160851031C>A	AB036706	CCDS1211.1	1q21.3	2008-02-05			ENSG00000179914	ENSG00000179914			18259	protein-coding gene	gene with protein product		609873				11313366, 11181563	Standard	NM_017625		Approved	ITLN, FLJ20022, LFR, HL-1, hIntL	uc001fxc.3	Q8WWA0	OTTHUMG00000028604	ENST00000326245.3:c.477G>T	1.37:g.160851031C>A	ENSP00000323587:p.Gln159His					ITLN1_ENST00000487531.1_5'UTR	p.Q159H	NM_017625.2	NP_060095.2	Q8WWA0	ITLN1_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00737)		5	592	-	all_cancers(52;2.99e-17)|all_hematologic(112;0.093)		159			Fibrinogen C-terminal.		Q5IWS4|Q5VYI4|Q6YDJ3|Q9NP67	Missense_Mutation	SNP	ENST00000326245.3	37	c.477G>T	CCDS1211.1	.	.	.	.	.	.	.	.	.	.	C	1.400	-0.578329	0.03854	.	.	ENSG00000179914	ENST00000326245	T	0.18174	2.23	4.17	-3.68	0.04463	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (2);	1.090500	0.07160	N	0.850535	T	0.03871	0.0109	L	0.53671	1.685	0.09310	N	1	B	0.09022	0.002	B	0.12837	0.008	T	0.43540	-0.9385	10	0.35671	T	0.21	0.3228	0.1328	0.00075	0.2542:0.2141:0.2509:0.2808	.	159	Q8WWA0	ITLN1_HUMAN	H	159	ENSP00000323587:Q159H	ENSP00000323587:Q159H	Q	-	3	2	ITLN1	159117655	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.515000	0.02252	-0.665000	0.05317	-0.345000	0.07892	CAG		0.562	ITLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071462.1	NM_017625		13	58	1	0	4.93089e-13	1	5.3475e-13	13	58					A	160851031	C	A	160851031	3	1	435	1	0	0	0	0	1	0	0	0	7910	796	28	5	480	5	ITLN1	1	160851031	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	81356	160851031	88399590	679	21604											
ARHGAP30	257106	broad.mit.edu	37	chr1	161017764	161017764	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagtacaggtctgggttcgcCgaactccttgagcctcagtc	7	10	11	13	2	2	1	1	1	1	0	5	2	3	1	3	2	3	2	3	2	2	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:161017764C>T	ENST00000368013.3	-	12	3367	c.3047G>A	c.(3046-3048)cGg>cAg	p.R1016Q	ARHGAP30_ENST00000368015.1_Missense_Mutation_p.R839Q|USF1_ENST00000368021.3_5'Flank|USF1_ENST00000435396.1_5'Flank|ARHGAP30_ENST00000368016.3_Missense_Mutation_p.R805Q	NM_001025598.1|NM_181720.2	NP_001020769.1|NP_859071.2	Q7Z6I6	RHG30_HUMAN	Rho GTPase activating protein 30	1016					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)	GTPase activator activity (GO:0005096)			breast(2)|cervix(3)|endometrium(4)|kidney(2)|large_intestine(4)|lung(6)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	all_cancers(52;8.05e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00122)			CTGGGTTCGCCGAACTCCTTG	0.587																																						ENST00000368013.3																			0				breast(2)|cervix(3)|endometrium(4)|kidney(2)|large_intestine(4)|lung(6)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						c.(3046-3048)cGg>cAg		Rho GTPase activating protein 30							70	70	70					1																	161017764		2203	4300	6503	SO:0001583	missense	257106				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	g.chr1:161017764C>T	AL832852	CCDS1215.1, CCDS30918.1, CCDS72958.1	1q23.3	2011-06-29			ENSG00000186517	ENSG00000186517		"Rho GTPase activating proteins"	27414	protein-coding gene	gene with protein product		614264					Standard	NM_001287602		Approved	FLJ00267	uc001fxl.3	Q7Z6I6	OTTHUMG00000031477	ENST00000368013.3:c.3047G>A	1.37:g.161017764C>T	ENSP00000356992:p.Arg1016Gln					ARHGAP30_ENST00000368015.1_Missense_Mutation_p.R839Q|ARHGAP30_ENST00000368016.3_Missense_Mutation_p.R805Q	p.R1016Q	NM_001025598.1|NM_181720.2	NP_001020769.1|NP_859071.2	Q7Z6I6	RHG30_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00122)		12	3367	-	all_cancers(52;8.05e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		1016					Q5SY52|Q5SY53|Q5SY54|Q6ZML6|Q7Z3J8|Q86XI7	Missense_Mutation	SNP	ENST00000368013.3	37	c.3047G>A	CCDS30918.1	.	.	.	.	.	.	.	.	.	.	C	17.40	3.380544	0.61845	.	.	ENSG00000186517	ENST00000368016;ENST00000368013;ENST00000368015	T;T;T	0.37058	2.7;2.73;1.22	4.17	2.17	0.27698	.	0.180903	0.25925	N	0.027416	T	0.21186	0.0510	M	0.67953	2.075	0.21416	N	0.999694	D;B	0.65815	0.995;0.129	P;B	0.47864	0.559;0.01	T	0.10337	-1.0634	10	0.72032	D	0.01	.	4.5231	0.11969	0.211:0.665:0.0:0.1241	.	1016;805	Q7Z6I6;Q7Z6I6-2	RHG30_HUMAN;.	Q	805;1016;839	ENSP00000356995:R805Q;ENSP00000356992:R1016Q;ENSP00000356994:R839Q	ENSP00000356992:R1016Q	R	-	2	0	ARHGAP30	159284388	0.985000	0.35326	1.000000	0.80357	0.981000	0.71138	1.277000	0.33167	0.325000	0.23359	0.455000	0.32223	CGG		0.587	ARHGAP30-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077090.2	NM_181720		15	19	0	0	0	1	0	15	19					T	161017764	C	T	161017764	3	4	435	1	0	0	0	0	1	0	0	0	879	652	23	2	262	2	ARHGAP30	1	161017764	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	166733	161017764	88232857	680	21605											
PVRL4	81607	broad.mit.edu	37	chr1	161044461	161044461	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcattgctgacatggcagaCgtagatgccgctgtgctcag	8	10	12	11	2	2	3	2	1	0	2	2	3	2	3	1	1	3	5	1	1	1	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:161044461C>T	ENST00000368012.3	-	5	1242	c.940G>A	c.(940-942)Gtc>Atc	p.V314I	PVRL4_ENST00000453926.2_Missense_Mutation_p.V48I|PVRL4_ENST00000486694.1_5'Flank	NM_030916.2	NP_112178.2	Q96NY8	PVRL4_HUMAN	poliovirus receptor-related 4	314	Ig-like C2-type 2.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|viral process (GO:0016032)	cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|urinary_tract(1)	20	all_cancers(52;8.9e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00165)			ACATGGCAGACGTAGATGCCG	0.572																																					NSCLC(76;1160 1387 14476 16172 29359)	ENST00000368012.3																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|urinary_tract(1)	20						c.(940-942)Gtc>Atc		poliovirus receptor-related 4							89	90	90					1																	161044461		2203	4300	6503	SO:0001583	missense	81607				adherens junction organization|cell adhesion|cell junction assembly	adherens junction|extracellular region|integral to membrane		g.chr1:161044461C>T	AF426163	CCDS1216.1	1q22-q23.2	2013-01-14			ENSG00000143217	ENSG00000143217		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C2-set domain containing"	19688	protein-coding gene	gene with protein product		609607				11544254	Standard	NM_030916		Approved	nectin-4, PRR4, LNIR	uc001fxo.2	Q96NY8	OTTHUMG00000031475	ENST00000368012.3:c.940G>A	1.37:g.161044461C>T	ENSP00000356991:p.Val314Ile					PVRL4_ENST00000453926.2_Missense_Mutation_p.V48I	p.V314I	NM_030916.2	NP_112178.2	Q96NY8	PVRL4_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00165)		5	1242	-	all_cancers(52;8.9e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		314			Ig-like C2-type 2.		B4DQW3|Q96K15	Missense_Mutation	SNP	ENST00000368012.3	37	c.940G>A	CCDS1216.1	.	.	.	.	.	.	.	.	.	.	C	10.03	1.239689	0.22711	.	.	ENSG00000143217	ENST00000368012;ENST00000453926	T;T	0.20332	2.08;2.08	4.84	2.97	0.34412	Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin (1);Immunoglobulin-like fold (1);	0.388638	0.21891	N	0.067590	T	0.03651	0.0104	N	0.05078	-0.115	0.31373	N	0.679939	B;D	0.54047	0.003;0.964	B;P	0.47786	0.003;0.557	T	0.16600	-1.0397	10	0.10902	T	0.67	.	7.1056	0.25362	0.0:0.798:0.0:0.202	.	48;314	B4DQW3;Q96NY8	.;PVRL4_HUMAN	I	314;48	ENSP00000356991:V314I;ENSP00000406015:V48I	ENSP00000356991:V314I	V	-	1	0	PVRL4	159311085	0.983000	0.35010	0.974000	0.42286	0.428000	0.31595	1.932000	0.40143	0.642000	0.30620	0.561000	0.74099	GTC		0.572	PVRL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077074.1	NM_030916		11	18	0	0	0	1	0	11	18					T	161044461	C	T	161044461	3	4	435	1	0	0	0	0	1	0	0	0	12842	536	19	1	612	1	PVRL4	1	161044461	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	26697	161044461	88206160	681	21606											
PPOX	5498	broad.mit.edu	37	chr1	161137271	161137271	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctgcatgccctacccactggCctcaggtaacaccagcacct	9	7	7	18	0	1	0	1	0	0	0	1	0	1	0	5	2	5	3	5	2	2	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:161137271C>T	ENST00000367999.4	+	4	599	c.333C>T	c.(331-333)ggC>ggT	p.G111G	PPOX_ENST00000432542.2_Intron|PPOX_ENST00000544598.1_Intron|PPOX_ENST00000535223.1_Intron|PPOX_ENST00000352210.5_Silent_p.G111G|PPOX_ENST00000495483.1_3'UTR	NM_001122764.1	NP_001116236.1	P50336	PPOX_HUMAN	protoporphyrinogen oxidase	111					heme biosynthetic process (GO:0006783)|oxidation-reduction process (GO:0055114)|porphyrin-containing compound biosynthetic process (GO:0006779)|porphyrin-containing compound metabolic process (GO:0006778)|protoporphyrinogen IX biosynthetic process (GO:0006782)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)	integral component of mitochondrial inner membrane (GO:0031305)|intrinsic component of mitochondrial inner membrane (GO:0031304)|mitochondrial intermembrane space (GO:0005758)|mitochondrial membrane (GO:0031966)	flavin adenine dinucleotide binding (GO:0050660)|oxygen-dependent protoporphyrinogen oxidase activity (GO:0004729)			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(3)	15	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			TACCCACTGGCCTCAGGTAAC	0.498																																						ENST00000367999.4																			0				breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(3)	15						c.(331-333)ggC>ggT		protoporphyrinogen oxidase							44	40	42					1																	161137271		2203	4300	6503	SO:0001819	synonymous_variant	5498				heme biosynthetic process	intrinsic to mitochondrial inner membrane|mitochondrial intermembrane space	flavin adenine dinucleotide binding|oxygen-dependent protoporphyrinogen oxidase activity	g.chr1:161137271C>T	BC002357	CCDS1221.1	1q22	2008-02-05			ENSG00000143224	ENSG00000143224	1.3.3.4		9280	protein-coding gene	gene with protein product		600923	"variegate porphyria"	VP		8575762, 10457135	Standard	NM_000309		Approved	PPO	uc001fyg.2	P50336	OTTHUMG00000034342	ENST00000367999.4:c.333C>T	1.37:g.161137271C>T						PPOX_ENST00000535223.1_Intron|PPOX_ENST00000432542.2_Intron|PPOX_ENST00000352210.5_Silent_p.G111G|PPOX_ENST00000495483.1_3'UTR|PPOX_ENST00000544598.1_Intron	p.G111G	NM_001122764.1	NP_001116236.1	P50336	PPOX_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00275)		4	599	+	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		111					D3DVG0|Q5VTW8	Silent	SNP	ENST00000367999.4	37	c.333C>T	CCDS1221.1																																																																																				0.498	PPOX-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000082993.1	NM_000309		4	11	0	0	0	1	0	4	11					T	161137271	C	T	161137271	2	4	435	1	0	0	0	0	0	0	0	1	12348	726	26	3		3	PPOX	1	161137271	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	92810	161137271	88113350	682	21607											
B4GALT3	8703	broad.mit.edu	37	chr1	161141751	161141751	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaggagcccgaggaccccgaGggtcagtcccaatgtctgct	9	6	13	13	2	2	0	1	0	1	0	3	4	3	2	4	3	2	1	4	3	2	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:161141751G>T	ENST00000319769.5	-	8	1259	c.1037C>A	c.(1036-1038)cCt>cAt	p.P346H	PPOX_ENST00000432542.2_Intron|PPOX_ENST00000535223.1_Intron|B4GALT3_ENST00000367998.1_Missense_Mutation_p.P346H|B4GALT3_ENST00000470882.1_5'UTR|PPOX_ENST00000495483.1_Intron	NM_001199873.1|NM_003779.3	NP_001186802.1|NP_003770.1	O60512	B4GT3_HUMAN	UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 3	346					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity (GO:0003831)|galactosyltransferase activity (GO:0008378)|metal ion binding (GO:0046872)|N-acetyllactosamine synthase activity (GO:0003945)			cervix(1)|endometrium(5)|large_intestine(6)|lung(6)	18	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)		N-Acetyl-D-glucosamine(DB00141)	AGGACCCCGAGGGTCAGTCCC	0.607																																						ENST00000319769.5																			0				cervix(1)|endometrium(5)|large_intestine(6)|lung(6)	18						c.(1036-1038)cCt>cAt		UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 3	N-Acetyl-D-glucosamine(DB00141)						62	69	67					1																	161141751		2203	4300	6503	SO:0001583	missense	8703				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|integral to membrane	beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity|metal ion binding|N-acetyllactosamine synthase activity	g.chr1:161141751G>T	BC006099	CCDS1222.1	1q21-q23	2013-02-19			ENSG00000158850	ENSG00000158850		"Beta 4-glycosyltransferases"	926	protein-coding gene	gene with protein product		604014				9405390, 9597550	Standard	NM_001199873		Approved	beta4Gal-T3	uc001fys.2	O60512	OTTHUMG00000034348	ENST00000319769.5:c.1037C>A	1.37:g.161141751G>T	ENSP00000320965:p.Pro346His					PPOX_ENST00000535223.1_Intron|PPOX_ENST00000432542.2_Intron|B4GALT3_ENST00000367998.1_Missense_Mutation_p.P346H|B4GALT3_ENST00000470882.1_5'UTR|PPOX_ENST00000495483.1_Intron	p.P346H	NM_001199873.1|NM_003779.3	NP_001186802.1|NP_003770.1	O60512	B4GT3_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00275)		8	1259	-	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		346					D3DVG3|O60910|Q9BPZ4|Q9H8T2	Missense_Mutation	SNP	ENST00000319769.5	37	c.1037C>A	CCDS1222.1	.	.	.	.	.	.	.	.	.	.	G	18.89	3.718642	0.68844	.	.	ENSG00000158850	ENST00000319769;ENST00000407555;ENST00000367998;ENST00000367997	T;T	0.52983	0.64;0.64	5.28	5.28	0.74379	.	0.050050	0.85682	D	0.000000	T	0.59018	0.2163	L	0.54323	1.7	0.80722	D	1	D	0.89917	1.0	D	0.73380	0.98	T	0.60974	-0.7156	10	0.87932	D	0	.	17.8577	0.88771	0.0:0.0:1.0:0.0	.	346	O60512	B4GT3_HUMAN	H	346;323;346;346	ENSP00000320965:P346H;ENSP00000356977:P346H	ENSP00000320965:P346H	P	-	2	0	B4GALT3	159408375	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.026000	0.70873	2.746000	0.94184	0.655000	0.94253	CCT		0.607	B4GALT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083054.1	NM_003779		24	29	1	0	1.96895e-08	1	2.07767e-08	24	29					T	161141751	G	T	161141751	3	4	435	1	0	0	0	0	1	0	0	0	1272	1000	35	5	148	5	B4GALT3	1	161141751	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	4480	161141751	88108870	683	21608											
ADAMTS4	9507	broad.mit.edu	37	chr1	161165296	161165296	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cagtgatgaagcgggcactgCagggggaccagggctcctca	9	5	16	11	1	1	2	1	2	0	0	2	3	2	3	2	4	2	3	2	4	1	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:161165296C>T	ENST00000367996.5	-	4	1648	c.1220G>A	c.(1219-1221)tGc>tAc	p.C407Y	ADAMTS4_ENST00000478394.1_5'UTR	NM_005099.4	NP_005090.3	O75173	ATS4_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 4	407	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				defense response to bacterium (GO:0042742)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|peptidase activity (GO:0008233)|protease binding (GO:0002020)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(20)|ovary(4)|prostate(3)|skin(1)|urinary_tract(1)	43	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)		Tinzaparin(DB06822)	GCGGGCACTGCAGGGGGACCA	0.562																																						ENST00000367996.4																			0				central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(20)|ovary(4)|prostate(3)|skin(1)|urinary_tract(1)	43						c.(1219-1221)tGc>tAc		ADAM metallopeptidase with thrombospondin type 1 motif, 4							160	141	147					1																	161165296		2203	4300	6503	SO:0001583	missense	9507				proteolysis|skeletal system development	extracellular space|proteinaceous extracellular matrix	metalloendopeptidase activity|protease binding|zinc ion binding	g.chr1:161165296C>T	AB014588	CCDS1223.1	1q31-q32	2008-02-05	2005-08-19		ENSG00000158859	ENSG00000158859		"ADAM metallopeptidases with thrombospondin type 1 motif"	220	protein-coding gene	gene with protein product		603876	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 4"			10094461	Standard	NM_005099		Approved	KIAA0688, ADAMTS-2, ADMP-1	uc001fyt.4	O75173	OTTHUMG00000034349	ENST00000367996.5:c.1220G>A	1.37:g.161165296C>T	ENSP00000356975:p.Cys407Tyr					ADAMTS4_ENST00000478394.1_5'UTR	p.C407Y	NM_005099.4	NP_005090.3	O75173	ATS4_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00275)		4	1648	-	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		407			Peptidase M12B.		Q5VTW2|Q6P4Q8|Q6UWA8|Q9UN83	Missense_Mutation	SNP	ENST00000367996.5	37	c.1220G>A	CCDS1223.1	.	.	.	.	.	.	.	.	.	.	C	25.9	4.681134	0.88542	.	.	ENSG00000158859	ENST00000367996	T	0.09911	2.93	4.77	4.77	0.60923	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.246801	0.34555	N	0.003866	T	0.41971	0.1182	H	0.97051	3.93	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.62661	-0.6807	10	0.87932	D	0	.	16.7015	0.85350	0.0:1.0:0.0:0.0	.	407	O75173	ATS4_HUMAN	Y	407	ENSP00000356975:C407Y	ENSP00000356975:C407Y	C	-	2	0	ADAMTS4	159431920	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.651000	0.83577	2.456000	0.83038	0.561000	0.74099	TGC		0.562	ADAMTS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083066.2	NM_005099		29	47	0	0	0	1	0	29	47					T	161165296	C	T	161165296	3	4	435	1	0	0	0	0	1	0	0	0	268	710	25	3	1317	3	ADAMTS4	1	161165296	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	23545	161165296	88085325	684	21609											
ADAMTS4	9507	broad.mit.edu	37	chr1	161167892	161167892	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gcgtaggatgtgagccccagGtcccccagcagagttagggg	8	6	16	11	1	0	2	0	1	0	1	1	3	1	3	4	4	2	3	4	4	2	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:161167892G>A	ENST00000367996.5	-	1	954	c.526C>T	c.(526-528)Cct>Tct	p.P176S	ADAMTS4_ENST00000367995.3_Missense_Mutation_p.P176S|ADAMTS4_ENST00000478394.1_5'Flank|NDUFS2_ENST00000367993.3_5'Flank	NM_005099.4	NP_005090.3	O75173	ATS4_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 4	176					defense response to bacterium (GO:0042742)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|peptidase activity (GO:0008233)|protease binding (GO:0002020)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(20)|ovary(4)|prostate(3)|skin(1)|urinary_tract(1)	43	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)		Tinzaparin(DB06822)	TGAGCCCCAGGTCCCCCAGCA	0.642																																						ENST00000367996.4																			0				central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(20)|ovary(4)|prostate(3)|skin(1)|urinary_tract(1)	43						c.(526-528)Cct>Tct		ADAM metallopeptidase with thrombospondin type 1 motif, 4							54	53	54					1																	161167892		2203	4300	6503	SO:0001583	missense	9507				proteolysis|skeletal system development	extracellular space|proteinaceous extracellular matrix	metalloendopeptidase activity|protease binding|zinc ion binding	g.chr1:161167892G>A	AB014588	CCDS1223.1	1q31-q32	2008-02-05	2005-08-19		ENSG00000158859	ENSG00000158859		"ADAM metallopeptidases with thrombospondin type 1 motif"	220	protein-coding gene	gene with protein product		603876	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 4"			10094461	Standard	NM_005099		Approved	KIAA0688, ADAMTS-2, ADMP-1	uc001fyt.4	O75173	OTTHUMG00000034349	ENST00000367996.5:c.526C>T	1.37:g.161167892G>A	ENSP00000356975:p.Pro176Ser					ADAMTS4_ENST00000367995.3_Missense_Mutation_p.P176S	p.P176S	NM_005099.4	NP_005090.3	O75173	ATS4_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00275)		1	954	-	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		176					Q5VTW2|Q6P4Q8|Q6UWA8|Q9UN83	Missense_Mutation	SNP	ENST00000367996.5	37	c.526C>T	CCDS1223.1	.	.	.	.	.	.	.	.	.	.	G	10.28	1.306139	0.23736	.	.	ENSG00000158859	ENST00000367996;ENST00000367995	T;T	0.64618	0.02;-0.11	5.26	3.24	0.37175	.	0.457457	0.19244	N	0.119094	T	0.15696	0.0378	N	0.08118	0	0.09310	N	0.999999	P;B	0.37914	0.611;0.007	B;B	0.35114	0.196;0.044	T	0.09143	-1.0688	10	0.10377	T	0.69	.	7.0272	0.24946	0.0:0.2682:0.4809:0.2509	.	176;176	Q5VTW1;O75173	.;ATS4_HUMAN	S	176	ENSP00000356975:P176S;ENSP00000356974:P176S	ENSP00000356974:P176S	P	-	1	0	ADAMTS4	159434516	0.013000	0.17824	0.953000	0.39169	0.949000	0.60115	1.094000	0.30951	2.439000	0.82584	0.491000	0.48974	CCT		0.642	ADAMTS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083066.2	NM_005099		17	17	0	0	0	1	0	17	17					A	161167892	G	A	161167892	3	1	435	1	0	0	0	0	1	0	0	0	268	1261	44	3	2023	3	ADAMTS4	1	161167892	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	2596	161167892	88082729	685	21610											
ADAMTS4	9507	broad.mit.edu	37	chr1	161167913	161167913	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcccccagcagagttaggggTgcctccctccaggggctgga	6	7	14	14	0	0	1	0	0	0	1	3	2	3	2	5	5	2	3	5	5	1	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:161167913T>C	ENST00000367996.5	-	1	933	c.505A>G	c.(505-507)Acc>Gcc	p.T169A	ADAMTS4_ENST00000367995.3_Missense_Mutation_p.T169A|ADAMTS4_ENST00000478394.1_5'Flank|NDUFS2_ENST00000367993.3_5'Flank	NM_005099.4	NP_005090.3	O75173	ATS4_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 4	169					defense response to bacterium (GO:0042742)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|peptidase activity (GO:0008233)|protease binding (GO:0002020)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(20)|ovary(4)|prostate(3)|skin(1)|urinary_tract(1)	43	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)		Tinzaparin(DB06822)	GAGTTAGGGGTGCCTCCCTCC	0.627																																						ENST00000367996.4																			0				central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(20)|ovary(4)|prostate(3)|skin(1)|urinary_tract(1)	43						c.(505-507)Acc>Gcc		ADAM metallopeptidase with thrombospondin type 1 motif, 4							55	54	54					1																	161167913		2203	4300	6503	SO:0001583	missense	9507				proteolysis|skeletal system development	extracellular space|proteinaceous extracellular matrix	metalloendopeptidase activity|protease binding|zinc ion binding	g.chr1:161167913T>C	AB014588	CCDS1223.1	1q31-q32	2008-02-05	2005-08-19		ENSG00000158859	ENSG00000158859		"ADAM metallopeptidases with thrombospondin type 1 motif"	220	protein-coding gene	gene with protein product		603876	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 4"			10094461	Standard	NM_005099		Approved	KIAA0688, ADAMTS-2, ADMP-1	uc001fyt.4	O75173	OTTHUMG00000034349	ENST00000367996.5:c.505A>G	1.37:g.161167913T>C	ENSP00000356975:p.Thr169Ala					ADAMTS4_ENST00000367995.3_Missense_Mutation_p.T169A	p.T169A	NM_005099.4	NP_005090.3	O75173	ATS4_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00275)		1	933	-	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		169					Q5VTW2|Q6P4Q8|Q6UWA8|Q9UN83	Missense_Mutation	SNP	ENST00000367996.5	37	c.505A>G	CCDS1223.1	.	.	.	.	.	.	.	.	.	.	T	7.611	0.674875	0.14841	.	.	ENSG00000158859	ENST00000367996;ENST00000367995	T;T	0.63417	0.06;-0.04	5.26	-9.63	0.00544	.	1.190730	0.06050	N	0.656419	T	0.08133	0.0203	N	0.02315	-0.6	0.09310	N	0.999991	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.09143	-1.0688	10	0.05351	T	0.99	.	10.1051	0.42528	0.3189:0.5634:0.0:0.1176	.	169;169	Q5VTW1;O75173	.;ATS4_HUMAN	A	169	ENSP00000356975:T169A;ENSP00000356974:T169A	ENSP00000356974:T169A	T	-	1	0	ADAMTS4	159434537	0.003000	0.15002	0.028000	0.17463	0.988000	0.76386	-0.945000	0.03909	-1.972000	0.01001	0.402000	0.26972	ACC		0.627	ADAMTS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083066.2	NM_005099		15	19	0	0	0	1	0	15	19					C	161167913	T	C	161167913	3	2	435	1	0	0	0	0	1	0	0	0	268	1696	59	4	2044	4	ADAMTS4	1	161167913	Missense_Mutation	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	21	161167913	88082708	686	21611											
NDUFS2	4720	broad.mit.edu	37	chr1	161176272	161176272	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ccaacacccagcagcgcatgGtgtcctgcgactagtgatgg	9	7	12	13	2	0	1	0	1	0	0	1	2	1	1	3	2	4	2	3	2	2	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:161176272G>A	ENST00000367993.3	+	4	726	c.278G>A	c.(277-279)gGt>gAt	p.G93D	NDUFS2_ENST00000476409.2_5'UTR|NDUFS2_ENST00000392179.4_Missense_Mutation_p.G93D	NM_004550.4	NP_004541.1	O75306	NDUS2_HUMAN	NADH dehydrogenase (ubiquinone) Fe-S protein 2, 49kDa (NADH-coenzyme Q reductase)	93					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|electron carrier activity (GO:0009055)|metal ion binding (GO:0046872)|NAD binding (GO:0051287)|NADH dehydrogenase (ubiquinone) activity (GO:0008137)|quinone binding (GO:0048038)			breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(8)|prostate(1)|skin(1)	18	all_cancers(52;1.16e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Doxorubicin(DB00997)	GCAGCGCATGGTGTCCTGCGA	0.512																																						ENST00000392179.4																			0				breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(8)|prostate(1)|skin(1)	18						c.(277-279)gGt>gAt		NADH dehydrogenase (ubiquinone) Fe-S protein 2, 49kDa (NADH-coenzyme Q reductase)	NADH(DB00157)						94	82	86					1																	161176272		2203	4300	6503	SO:0001583	missense	4720				mitochondrial electron transport, NADH to ubiquinone|response to oxidative stress|transport	mitochondrial respiratory chain complex I	4 iron, 4 sulfur cluster binding|electron carrier activity|metal ion binding|NAD binding|NADH dehydrogenase (ubiquinone) activity|protein binding|quinone binding	g.chr1:161176272G>A	BC008868	CCDS1224.1, CCDS53404.1	1q23.3	2011-07-04	2002-08-29		ENSG00000158864	ENSG00000158864	1.6.5.3	"Mitochondrial respiratory chain complex / Complex I"	7708	protein-coding gene	gene with protein product	"complex I 49kDa subunit", "NADH dehydrogenase [ubiquinone] iron-sulfur protein 2, mitochondrial"	602985	"NADH dehydrogenase (ubiquinone) Fe-S protein 2 (49kD) (NADH-coenzyme Q reductase)"			1832859, 9585441	Standard	NM_004550		Approved	CI-49	uc001fyw.3	O75306	OTTHUMG00000034344	ENST00000367993.3:c.278G>A	1.37:g.161176272G>A	ENSP00000356972:p.Gly93Asp					NDUFS2_ENST00000476409.2_5'UTR|NDUFS2_ENST00000367993.3_Missense_Mutation_p.G93D	p.G93D	NM_001166159.1	NP_001159631.1	O75306	NDUS2_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00376)		3	517	+	all_cancers(52;1.16e-17)|all_hematologic(112;0.093)		93					D3DVG7|J3KPM7|Q5VTW0|Q969P3|Q9UEV3	Missense_Mutation	SNP	ENST00000367993.3	37	c.278G>A	CCDS1224.1	.	.	.	.	.	.	.	.	.	.	G	35	5.587691	0.96590	.	.	ENSG00000158864	ENST00000367993;ENST00000392179	D;D	0.96992	-4.2;-4.2	6.03	6.03	0.97812	.	0.000000	0.85682	D	0.000000	D	0.98732	0.9574	M	0.93420	3.415	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.99297	1.0900	10	0.87932	D	0	.	19.3381	0.94329	0.0:0.0:1.0:0.0	.	42;93;93	B7Z792;Q53HG2;O75306	.;.;NDUS2_HUMAN	D	93	ENSP00000356972:G93D;ENSP00000376018:G93D	ENSP00000356972:G93D	G	+	2	0	NDUFS2	159442896	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.664000	0.91139	2.854000	0.98071	0.655000	0.94253	GGT		0.512	NDUFS2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000083015.1	NM_004550		15	36	0	0	0	1	0	15	36					A	161176272	G	A	161176272	3	1	435	1	0	0	0	0	1	0	0	0	10292	1261	44	3	288	3	NDUFS2	1	161176272	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	8359	161176272	88074349	687	21612											
NDUFS2	4720	broad.mit.edu	37	chr1	161183492	161183492	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agcagccgcccttatcgatgCaagatcaaggctcctggttt	9	10	10	12	2	1	1	1	0	0	1	3	2	2	1	3	2	3	4	3	2	3	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:161183492C>T	ENST00000367993.3	+	13	1714	c.1266C>T	c.(1264-1266)tgC>tgT	p.C422C	FCER1G_ENST00000289902.1_5'Flank|FCER1G_ENST00000367992.3_5'Flank|NDUFS2_ENST00000465923.1_3'UTR|NDUFS2_ENST00000392179.4_Silent_p.C422C	NM_004550.4	NP_004541.1	O75306	NDUS2_HUMAN	NADH dehydrogenase (ubiquinone) Fe-S protein 2, 49kDa (NADH-coenzyme Q reductase)	422					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|electron carrier activity (GO:0009055)|metal ion binding (GO:0046872)|NAD binding (GO:0051287)|NADH dehydrogenase (ubiquinone) activity (GO:0008137)|quinone binding (GO:0048038)			breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(8)|prostate(1)|skin(1)	18	all_cancers(52;1.16e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Doxorubicin(DB00997)	CTTATCGATGCAAGATCAAGG	0.443																																						ENST00000392179.4																			0				breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(8)|prostate(1)|skin(1)	18						c.(1264-1266)tgC>tgT		NADH dehydrogenase (ubiquinone) Fe-S protein 2, 49kDa (NADH-coenzyme Q reductase)	NADH(DB00157)						124	117	119					1																	161183492		2203	4300	6503	SO:0001819	synonymous_variant	4720				mitochondrial electron transport, NADH to ubiquinone|response to oxidative stress|transport	mitochondrial respiratory chain complex I	4 iron, 4 sulfur cluster binding|electron carrier activity|metal ion binding|NAD binding|NADH dehydrogenase (ubiquinone) activity|protein binding|quinone binding	g.chr1:161183492C>T	BC008868	CCDS1224.1, CCDS53404.1	1q23.3	2011-07-04	2002-08-29		ENSG00000158864	ENSG00000158864	1.6.5.3	"Mitochondrial respiratory chain complex / Complex I"	7708	protein-coding gene	gene with protein product	"complex I 49kDa subunit", "NADH dehydrogenase [ubiquinone] iron-sulfur protein 2, mitochondrial"	602985	"NADH dehydrogenase (ubiquinone) Fe-S protein 2 (49kD) (NADH-coenzyme Q reductase)"			1832859, 9585441	Standard	NM_004550		Approved	CI-49	uc001fyw.3	O75306	OTTHUMG00000034344	ENST00000367993.3:c.1266C>T	1.37:g.161183492C>T						NDUFS2_ENST00000465923.1_3'UTR|NDUFS2_ENST00000367993.3_Silent_p.C422C	p.C422C	NM_001166159.1	NP_001159631.1	O75306	NDUS2_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00376)		12	1505	+	all_cancers(52;1.16e-17)|all_hematologic(112;0.093)		422					D3DVG7|J3KPM7|Q5VTW0|Q969P3|Q9UEV3	Silent	SNP	ENST00000367993.3	37	c.1266C>T	CCDS1224.1																																																																																				0.443	NDUFS2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000083015.1	NM_004550		17	102	0	0	0	1	0	17	102					T	161183492	C	T	161183492	2	4	435	1	0	0	0	0	0	0	0	1	10292	718	25	3		3	NDUFS2	1	161183492	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	7220	161183492	88067129	688	21613											
ATF6	22926	broad.mit.edu	37	chr1	161789584	161789584	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gaaaatggaacactgaagcgGcagctggatgaagttgtgtc	13	8	14	6	1	0	2	0	2	0	0	1	5	0	4	0	3	3	3	0	3	5	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:161789584G>A	ENST00000367942.3	+	8	1138	c.1071G>A	c.(1069-1071)cgG>cgA	p.R357R		NM_007348.3	NP_031374.2	P18850	ATF6A_HUMAN	activating transcription factor 6	357	bZIP. {ECO:0000255|PROSITE- ProRule:PRU00978}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|positive regulation of transcription from RNA polymerase II promoter involved in unfolded protein response (GO:0006990)|protein folding (GO:0006457)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to stress (GO:0006950)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			breast(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(14)|ovary(3)|skin(1)|stomach(1)	34	all_hematologic(112;0.156)		BRCA - Breast invasive adenocarcinoma(70;0.00953)		Pseudoephedrine(DB00852)	CACTGAAGCGGCAGCTGGATG	0.413																																						ENST00000367942.3																			0				breast(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(14)|ovary(3)|skin(1)|stomach(1)	34						c.(1069-1071)cgG>cgA		activating transcription factor 6							57	56	57					1																	161789584		2203	4300	6503	SO:0001819	synonymous_variant	22926				positive regulation of transcription from RNA polymerase II promoter involved in unfolded protein response|protein folding	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|nuclear envelope|nucleoplasm	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chr1:161789584G>A	AB015856	CCDS1235.1	1q22-q23	2013-01-10			ENSG00000118217	ENSG00000118217		"basic leucine zipper proteins"	791	protein-coding gene	gene with protein product	"activating transcription factor 6 alpha"	605537				9837962, 9271374, 11256944	Standard	NM_007348		Approved	ATF6A	uc001gbs.3	P18850	OTTHUMG00000023961	ENST00000367942.3:c.1071G>A	1.37:g.161789584G>A							p.R357R	NM_007348.3	NP_031374.2	P18850	ATF6A_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00953)		8	1138	+	all_hematologic(112;0.156)		357			Leucine-zipper.		O15139|Q5VW62|Q6IPB5|Q9UEC9	Silent	SNP	ENST00000367942.3	37	c.1071G>A	CCDS1235.1																																																																																				0.413	ATF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060304.2	NM_007348		5	23	0	0	0	1	0	5	23					A	161789584	G	A	161789584	2	1	435	1	0	0	0	0	0	0	0	1	1084	1190	42	3		3	ATF6	1	161789584	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	606092	161789584	87461037	689	21614											
OLFML2B	25903	broad.mit.edu	37	chr1	161954013	161954013	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaggcgccattgtataccaCgtggcctgtgccgatccagc	8	8	12	13	3	0	0	0	0	0	0	1	2	1	0	5	2	3	1	5	2	3	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:161954013C>T	ENST00000294794.3	-	8	2128	c.1705G>A	c.(1705-1707)Gtg>Atg	p.V569M	OLFML2B_ENST00000367938.1_Missense_Mutation_p.V52M|OLFML2B_ENST00000367940.2_Missense_Mutation_p.V570M	NM_015441.1	NP_056256.1	Q68BL8	OLM2B_HUMAN	olfactomedin-like 2B	569	Olfactomedin-like. {ECO:0000255|PROSITE- ProRule:PRU00446}.				extracellular matrix organization (GO:0030198)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48	all_hematologic(112;0.156)		BRCA - Breast invasive adenocarcinoma(70;0.0172)			TTGTATACCACGTGGCCTGTG	0.582																																						ENST00000294794.3																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						c.(1705-1707)Gtg>Atg		olfactomedin-like 2B							95	83	87					1																	161954013		2203	4300	6503	SO:0001583	missense	25903							g.chr1:161954013C>T	BX648975	CCDS1236.1, CCDS72966.1	1q23.1	2008-02-05			ENSG00000162745	ENSG00000162745			24558	protein-coding gene	gene with protein product							Standard	XM_005245075		Approved	DKFZP586L151	uc001gbu.3	Q68BL8	OTTHUMG00000024047	ENST00000294794.3:c.1705G>A	1.37:g.161954013C>T	ENSP00000294794:p.Val569Met					OLFML2B_ENST00000367940.2_Missense_Mutation_p.V570M|OLFML2B_ENST00000367938.1_Missense_Mutation_p.V52M	p.V569M	NM_015441.1	NP_056256.1	Q68BL8	OLM2B_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.0172)		8	2128	-	all_hematologic(112;0.156)		569			Olfactomedin-like.		B7ZA39|Q5VU96|Q6NX46|Q86X11|Q9Y3X6	Missense_Mutation	SNP	ENST00000294794.3	37	c.1705G>A	CCDS1236.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.360120	0.82353	.	.	ENSG00000162745	ENST00000294794;ENST00000367940;ENST00000367938	D;D;D	0.91996	-2.95;-2.95;-2.95	5.17	5.17	0.71159	Olfactomedin-like (3);	.	.	.	.	D	0.96534	0.8869	M	0.90977	3.165	0.42333	D	0.992307	D;D	0.89917	1.0;1.0	D;D	0.79108	0.992;0.988	D	0.97337	0.9954	8	0.87932	D	0	.	16.1511	0.81624	0.0:1.0:0.0:0.0	.	570;569	F2Z3N3;Q68BL8	.;OLM2B_HUMAN	M	569;570;52	ENSP00000294794:V569M;ENSP00000356917:V570M;ENSP00000356915:V52M	ENSP00000294794:V569M	V	-	1	0	OLFML2B	160220637	1.000000	0.71417	0.992000	0.48379	0.954000	0.61252	7.677000	0.84024	2.400000	0.81607	0.561000	0.74099	GTG		0.582	OLFML2B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000060552.2	NM_015441		18	29	0	0	0	1	0	18	29					T	161954013	C	T	161954013	3	4	435	1	0	0	0	0	1	0	0	0	10858	536	19	1	551	1	OLFML2B	1	161954013	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	164429	161954013	87296608	690	21615											
C1orf226	400793	broad.mit.edu	37	chr1	162351690	162351690	+	5'UTR	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tttgttcatagttgaccacgGcatgtttgagaatttgaaca	11	15	9	6	1	1	3	1	3	0	1	1	4	1	3	1	1	1	4	1	1	3	6			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:162351690G>T	ENST00000458626.2	+	0	171				C1orf226_ENST00000426197.2_Missense_Mutation_p.G43V|RP11-565P22.6_ENST00000431696.1_Missense_Mutation_p.G109V	NM_001085375.1	NP_001078844.1	A1L170	CA226_HUMAN	chromosome 1 open reading frame 226											central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	12						GTTGACCACGGCATGTTTGAG	0.557																																						ENST00000426197.2																			0				central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	12						c.(127-129)gGc>gTc		chromosome 1 open reading frame 226							24	26	26					1																	162351690		1686	3755	5441	SO:0001623	5_prime_UTR_variant	400793							g.chr1:162351690G>T	AI480219, AK023199, AK125122, AL512785, BC127743	CCDS44268.1, CCDS53422.1	1q23.3	2013-10-11			ENSG00000239887	ENSG00000239887			34351	protein-coding gene	gene with protein product						14702039	Standard	NM_001085375		Approved	FLJ13137	uc010pkt.1	A1L170	OTTHUMG00000031376	ENST00000458626.2:c.-2G>T	1.37:g.162351690G>T						C1orf226_ENST00000458626.2_5'UTR|RP11-565P22.6_ENST00000431696.1_Missense_Mutation_p.109_109insV	p.G43V	NM_001135240.1	NP_001128712.1	A1L170	CA226_HUMAN			2	201	+			0					B4DF31	Missense_Mutation	SNP	ENST00000458626.2	37	c.128G>T	CCDS53422.1	.	.	.	.	.	.	.	.	.	.	G	17.06	3.292084	0.59976	.	.	ENSG00000254706;ENSG00000239887	ENST00000431696;ENST00000426197	.	.	.	5.54	5.54	0.83059	.	.	.	.	.	T	0.47488	0.1448	.	.	.	.	.	.	P	0.35272	0.493	B	0.39465	0.3	T	0.52983	-0.8502	6	0.46703	T	0.11	.	18.0555	0.89363	0.0:0.0:1.0:0.0	.	43	A1L170-2	.	V	109;43	.	ENSP00000413150:G43V	G	+	2	0	C1orf226;RP11-565P22.6	160618314	1.000000	0.71417	1.000000	0.80357	0.885000	0.51271	8.091000	0.89528	2.589000	0.87451	0.655000	0.94253	GGC		0.557	C1orf226-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000076793.2	NM_001085375		6	17	1	0	0.00307968	1	0.00311927	6	17					T	162351690	G	T	162351690	1	4	435	0	1	0	0	0	0	0	0	0	2032	1203	42	5		5	C1orf226	1	162351690	5'UTR	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	397677	162351690	86898931	691	21616											
UHMK1	127933	broad.mit.edu	37	chr1	162469789	162469789	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tccacttttctccaaatgtgCcatcacgctgtctgttgctt	6	16	6	13	1	3	0	1	0	2	0	5	0	4	0	3	0	2	3	3	0	1	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:162469789C>T	ENST00000489294.1	+	2	471	c.313C>T	c.(313-315)Cca>Tca	p.P105S	UHMK1_ENST00000545294.1_Missense_Mutation_p.P31S|UHMK1_ENST00000282169.8_3'UTR|UHMK1_ENST00000538489.1_Missense_Mutation_p.P105S	NM_175866.4	NP_787062.1	Q8TAS1	UHMK1_HUMAN	U2AF homology motif (UHM) kinase 1	105	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159, ECO:0000305}.				cell cycle arrest (GO:0007050)|neuron projection development (GO:0031175)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of translational initiation (GO:0045948)|protein autophosphorylation (GO:0046777)|regulation of protein export from nucleus (GO:0046825)	axon (GO:0030424)|dendrite cytoplasm (GO:0032839)|neuronal ribonucleoprotein granule (GO:0071598)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|ribonucleoprotein complex binding (GO:0043021)|RNA binding (GO:0003723)|transferase activity (GO:0016740)			endometrium(1)|large_intestine(2)|lung(6)|prostate(2)	11	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.126)			TCCAAATGTGCCATCACGCTG	0.383																																						ENST00000489294.1																			0				endometrium(1)|large_intestine(2)|lung(6)|prostate(2)	11						c.(313-315)Cca>Tca		U2AF homology motif (UHM) kinase 1							217	196	204					1																	162469789		2203	4300	6503	SO:0001583	missense	127933				cell cycle arrest|neuron projection development|peptidyl-serine phosphorylation|positive regulation of translational initiation|protein autophosphorylation|regulation of protein export from nucleus	axon|dendrite cytoplasm|neuronal RNA granule|nucleus	protein binding|protein serine/threonine kinase activity|ribonucleoprotein binding|RNA binding	g.chr1:162469789C>T	BC026046	CCDS1239.1, CCDS53423.1, CCDS53424.1	1q23.1	2013-02-12			ENSG00000152332	ENSG00000152332		"RNA binding motif (RRM) containing"	19683	protein-coding gene	gene with protein product		608849				12093740, 12782393	Standard	NM_175866		Approved	KIS, Kist	uc001gcc.2	Q8TAS1	OTTHUMG00000031373	ENST00000489294.1:c.313C>T	1.37:g.162469789C>T	ENSP00000420270:p.Pro105Ser					UHMK1_ENST00000282169.8_3'UTR|UHMK1_ENST00000545294.1_Missense_Mutation_p.P31S|UHMK1_ENST00000538489.1_Missense_Mutation_p.P105S	p.P105S	NM_175866.4	NP_787062.1	Q8TAS1	UHMK1_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.126)		2	471	+	all_hematologic(112;0.115)		105			Protein kinase.		A8K8K4|G3V1M1|Q96C22	Missense_Mutation	SNP	ENST00000489294.1	37	c.313C>T	CCDS1239.1	.	.	.	.	.	.	.	.	.	.	C	13.42	2.233015	0.39498	.	.	ENSG00000152332	ENST00000545294;ENST00000538489;ENST00000489294	T;T;T	0.63255	-0.03;-0.03;-0.03	5.49	5.49	0.81192	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.181870	0.50627	D	0.000118	T	0.28699	0.0711	N	0.10809	0.05	.	.	.	B;B;B	0.13145	0.002;0.003;0.007	B;B;B	0.15484	0.013;0.013;0.007	T	0.07539	-1.0767	9	0.25751	T	0.34	-18.4864	16.4617	0.84056	0.0:1.0:0.0:0.0	.	105;105;31	Q8TAS1-2;Q8TAS1;G3V1M1	.;UHMK1_HUMAN;.	S	31;105;105	ENSP00000441226:P31S;ENSP00000446416:P105S;ENSP00000420270:P105S	ENSP00000420270:P105S	P	+	1	0	UHMK1	160736413	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.622000	0.46427	2.739000	0.93911	0.655000	0.94253	CCA		0.383	UHMK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076788.1	NM_175866		24	82	0	0	0	1	0	24	82					T	162469789	C	T	162469789	3	4	435	1	0	0	0	0	1	0	0	0	16963	739	26	3	369	3	UHMK1	1	162469789	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	118099	162469789	86780832	692	21617											
UHMK1	127933	broad.mit.edu	37	chr1	162469884	162469884	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgttccatgtggatgatacaGcattgtgcccgagatgtttt	8	15	11	7	1	0	2	0	1	0	1	1	4	1	3	2	1	3	3	2	1	1	5	rs374875061	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:162469884G>A	ENST00000489294.1	+	2	566	c.408G>A	c.(406-408)caG>caA	p.Q136Q	UHMK1_ENST00000545294.1_Silent_p.Q62Q|UHMK1_ENST00000282169.8_3'UTR|UHMK1_ENST00000538489.1_Silent_p.Q136Q	NM_175866.4	NP_787062.1	Q8TAS1	UHMK1_HUMAN	U2AF homology motif (UHM) kinase 1	136	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159, ECO:0000305}.				cell cycle arrest (GO:0007050)|neuron projection development (GO:0031175)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of translational initiation (GO:0045948)|protein autophosphorylation (GO:0046777)|regulation of protein export from nucleus (GO:0046825)	axon (GO:0030424)|dendrite cytoplasm (GO:0032839)|neuronal ribonucleoprotein granule (GO:0071598)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|ribonucleoprotein complex binding (GO:0043021)|RNA binding (GO:0003723)|transferase activity (GO:0016740)			endometrium(1)|large_intestine(2)|lung(6)|prostate(2)	11	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.126)			GGATGATACAGCATTGTGCCC	0.478													G|||	2	0.000399361	0	0	5008	,	,		18612	0.002		0	False		,,,				2504	0					ENST00000489294.1																			0				endometrium(1)|large_intestine(2)|lung(6)|prostate(2)	11						c.(406-408)caG>caA		U2AF homology motif (UHM) kinase 1							205	175	185					1																	162469884		2203	4300	6503	SO:0001819	synonymous_variant	127933				cell cycle arrest|neuron projection development|peptidyl-serine phosphorylation|positive regulation of translational initiation|protein autophosphorylation|regulation of protein export from nucleus	axon|dendrite cytoplasm|neuronal RNA granule|nucleus	protein binding|protein serine/threonine kinase activity|ribonucleoprotein binding|RNA binding	g.chr1:162469884G>A	BC026046	CCDS1239.1, CCDS53423.1, CCDS53424.1	1q23.1	2013-02-12			ENSG00000152332	ENSG00000152332		"RNA binding motif (RRM) containing"	19683	protein-coding gene	gene with protein product		608849				12093740, 12782393	Standard	NM_175866		Approved	KIS, Kist	uc001gcc.2	Q8TAS1	OTTHUMG00000031373	ENST00000489294.1:c.408G>A	1.37:g.162469884G>A						UHMK1_ENST00000282169.8_3'UTR|UHMK1_ENST00000545294.1_Silent_p.Q62Q|UHMK1_ENST00000538489.1_Silent_p.Q136Q	p.Q136Q	NM_175866.4	NP_787062.1	Q8TAS1	UHMK1_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.126)		2	566	+	all_hematologic(112;0.115)		136			Protein kinase.		A8K8K4|G3V1M1|Q96C22	Silent	SNP	ENST00000489294.1	37	c.408G>A	CCDS1239.1																																																																																				0.478	UHMK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076788.1	NM_175866		45	42	0	0	0	1	0	45	42					A	162469884	G	A	162469884	2	1	435	1	0	0	0	0	0	0	0	1	16963	962	34	3		3	UHMK1	1	162469884	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	95	162469884	86780737	693	21618											
UAP1	6675	broad.mit.edu	37	chr1	162560256	162560256	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ctgggtcctcaatgcaggggGccatttcatagatgaaaatg	11	10	12	8	0	2	2	2	1	0	1	3	2	3	2	2	3	1	1	2	3	4	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:162560256G>A	ENST00000367925.1	+	7	1345	c.1313G>A	c.(1312-1314)gGc>gAc	p.G438D	UAP1_ENST00000271469.3_Missense_Mutation_p.G438D|UAP1_ENST00000367926.4_Missense_Mutation_p.G438D|UAP1_ENST00000367924.1_Missense_Mutation_p.G438D|RP11-359K18.4_ENST00000609669.1_RNA			Q16222	UAP1_HUMAN	UDP-N-acetylglucosamine pyrophosphorylase 1	438					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|UDP-N-acetylglucosamine biosynthetic process (GO:0006048)	cytosol (GO:0005829)	carbohydrate binding (GO:0030246)|UDP-N-acetylglucosamine diphosphorylase activity (GO:0003977)			breast(2)|cervix(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(2)|skin(2)|stomach(1)	22	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.126)			AATGCAGGGGGCCATTTCATA	0.448																																						ENST00000271469.3																			0				breast(2)|cervix(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(2)|skin(2)|stomach(1)	22						c.(1312-1314)gGc>gAc		UDP-N-acteylglucosamine pyrophosphorylase 1							114	105	108					1																	162560256		2203	4300	6503	SO:0001583	missense	6675				dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process	cytosol|nucleus|plasma membrane	UDP-N-acetylglucosamine diphosphorylase activity	g.chr1:162560256G>A	AB011004	CCDS1240.1	1q23.2	2014-07-31	2014-07-31		ENSG00000117143	ENSG00000117143	2.7.7.23		12457	protein-coding gene	gene with protein product		602862		SPAG2		9603950, 8025165	Standard	NM_003115		Approved	AGX1, AgX	uc001gce.4	Q16222	OTTHUMG00000034419	ENST00000367925.1:c.1313G>A	1.37:g.162560256G>A	ENSP00000356902:p.Gly438Asp					UAP1_ENST00000367925.1_Missense_Mutation_p.G438D|UAP1_ENST00000367926.4_Missense_Mutation_p.G438D|UAP1_ENST00000367924.1_Missense_Mutation_p.G438D	p.G438D			Q16222	UAP1_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.126)		8	1615	+	all_hematologic(112;0.115)		438					B2R6R8|Q5VTA9|Q5VTB0|Q5VTB1|Q96GM2	Missense_Mutation	SNP	ENST00000367925.1	37	c.1313G>A		.	.	.	.	.	.	.	.	.	.	G	29.5	5.012504	0.93346	.	.	ENSG00000117143	ENST00000367926;ENST00000271469;ENST00000367925;ENST00000367924	T;T;T;T	0.16457	2.34;2.34;2.34;2.34	4.93	4.93	0.64822	.	0.000000	0.85682	D	0.000000	T	0.43809	0.1264	M	0.90705	3.14	0.58432	D	0.999995	D	0.89917	1.0	D	0.91635	0.999	T	0.55341	-0.8156	9	0.87932	D	0	-12.6179	16.8901	0.86085	0.0:0.0:1.0:0.0	.	438	Q16222-2	.	D	438	ENSP00000356903:G438D;ENSP00000271469:G438D;ENSP00000356902:G438D;ENSP00000356901:G438D	ENSP00000271469:G438D	G	+	2	0	UAP1	160826880	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.398000	0.97281	2.561000	0.86390	0.655000	0.94253	GGC		0.448	UAP1-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000083203.1	NM_003115		25	29	0	0	0	1	0	25	29					A	162560256	G	A	162560256	3	1	435	1	0	0	0	0	1	0	0	0	16822	1203	42	3	1339	3	UAP1	1	162560256	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	90372	162560256	86690365	694	21619											
DDR2	4921	broad.mit.edu	37	chr1	162725543	162725543	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgaatgattctgtctatgatGgagctgttggatacaggtaa	11	14	12	4	0	2	3	0	3	2	0	2	5	2	5	0	3	2	3	0	3	4	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:162725543G>A	ENST00000367922.3	+	8	1093	c.655G>A	c.(655-657)Gga>Aga	p.G219R	DDR2_ENST00000367921.3_Missense_Mutation_p.G219R	NM_001014796.1	NP_001014796.1	Q16832	DDR2_HUMAN	discoidin domain receptor tyrosine kinase 2	219					biomineral tissue development (GO:0031214)|cell adhesion (GO:0007155)|chondrocyte proliferation (GO:0035988)|collagen fibril organization (GO:0030199)|collagen-activated tyrosine kinase receptor signaling pathway (GO:0038063)|endochondral bone growth (GO:0003416)|extracellular matrix organization (GO:0030198)|ossification (GO:0001503)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of extracellular matrix disassembly (GO:0090091)|positive regulation of fibroblast migration (GO:0010763)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein autophosphorylation (GO:0046777)|regulation of bone mineralization (GO:0030500)|regulation of extracellular matrix disassembly (GO:0010715)|signal transduction (GO:0007165)	apical plasma membrane (GO:0016324)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|collagen binding (GO:0005518)|protein tyrosine kinase collagen receptor activity (GO:0038062)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			central_nervous_system(2)|kidney(1)|lung(2)|ovary(1)|skin(1)	7	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.113)		Regorafenib(DB08896)	TGTCTATGATGGAGCTGTTGG	0.398																																					NSCLC(161;314 2006 8283 19651 23192)	ENST00000367922.2																			0				central_nervous_system(2)|kidney(1)|lung(2)|ovary(1)|skin(1)	7						c.(655-657)Gga>Aga		discoidin domain receptor tyrosine kinase 2							130	127	128					1																	162725543		2203	4300	6503	SO:0001583	missense	4921				cell adhesion	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr1:162725543G>A	AK095975	CCDS1241.1	1q12-q23	2009-07-10	2008-01-23		ENSG00000162733	ENSG00000162733	2.7.10.1		2731	protein-coding gene	gene with protein product		191311	"discoidin domain receptor family, member 2"	TYRO10, NTRKR3		9659899	Standard	XM_005245221		Approved	TKT	uc001gcg.3	Q16832	OTTHUMG00000034423	ENST00000367922.3:c.655G>A	1.37:g.162725543G>A	ENSP00000356899:p.Gly219Arg					DDR2_ENST00000367921.3_Missense_Mutation_p.G219R	p.G219R	NM_001014796.1	NP_001014796.1	Q16832	DDR2_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.113)		8	1093	+	all_hematologic(112;0.115)		219					Q7Z730	Missense_Mutation	SNP	ENST00000367922.3	37	c.655G>A	CCDS1241.1	.	.	.	.	.	.	.	.	.	.	G	24.3	4.511190	0.85389	.	.	ENSG00000162733	ENST00000367922;ENST00000367921	T;T	0.27256	1.68;1.68	5.81	4.88	0.63580	.	0.103853	0.64402	D	0.000003	T	0.49864	0.1582	M	0.89601	3.045	0.41937	D	0.990593	D	0.89917	1.0	D	0.97110	1.0	T	0.65446	-0.6166	9	0.87932	D	0	.	14.7694	0.69665	0.0:0.0:0.8544:0.1456	.	219	Q16832	DDR2_HUMAN	R	219	ENSP00000356899:G219R;ENSP00000356898:G219R	ENSP00000356898:G219R	G	+	1	0	DDR2	160992167	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	9.033000	0.93741	1.411000	0.46957	0.650000	0.86243	GGA		0.398	DDR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083213.2	NM_006182		55	78	0	0	0	1	0	55	78					A	162725543	G	A	162725543	3	1	435	1	0	0	0	0	1	0	0	0	4337	1349	47	3	673	3	DDR2	1	162725543	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	165287	162725543	86525078	695	21620											
DDR2	4921	broad.mit.edu	37	chr1	162749928	162749928	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccctcaaccagccatttgTcctgactctgtgtataagct	8	13	6	14	0	2	1	1	1	1	0	4	1	4	1	4	0	3	2	4	0	3	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:162749928T>C	ENST00000367922.3	+	19	2898	c.2460T>C	c.(2458-2460)tgT>tgC	p.C820C	DDR2_ENST00000367921.3_Silent_p.C820C|RN7SL861P_ENST00000473793.2_RNA	NM_001014796.1	NP_001014796.1	Q16832	DDR2_HUMAN	discoidin domain receptor tyrosine kinase 2	820	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				biomineral tissue development (GO:0031214)|cell adhesion (GO:0007155)|chondrocyte proliferation (GO:0035988)|collagen fibril organization (GO:0030199)|collagen-activated tyrosine kinase receptor signaling pathway (GO:0038063)|endochondral bone growth (GO:0003416)|extracellular matrix organization (GO:0030198)|ossification (GO:0001503)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of extracellular matrix disassembly (GO:0090091)|positive regulation of fibroblast migration (GO:0010763)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein autophosphorylation (GO:0046777)|regulation of bone mineralization (GO:0030500)|regulation of extracellular matrix disassembly (GO:0010715)|signal transduction (GO:0007165)	apical plasma membrane (GO:0016324)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|collagen binding (GO:0005518)|protein tyrosine kinase collagen receptor activity (GO:0038062)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			central_nervous_system(2)|kidney(1)|lung(2)|ovary(1)|skin(1)	7	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.113)		Regorafenib(DB08896)	CAGCCATTTGTCCTGACTCTG	0.453																																					NSCLC(161;314 2006 8283 19651 23192)	ENST00000367922.2																			0				central_nervous_system(2)|kidney(1)|lung(2)|ovary(1)|skin(1)	7						c.(2458-2460)tgT>tgC		discoidin domain receptor tyrosine kinase 2							206	201	203					1																	162749928		2203	4300	6503	SO:0001819	synonymous_variant	4921				cell adhesion	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr1:162749928T>C	AK095975	CCDS1241.1	1q12-q23	2009-07-10	2008-01-23		ENSG00000162733	ENSG00000162733	2.7.10.1		2731	protein-coding gene	gene with protein product		191311	"discoidin domain receptor family, member 2"	TYRO10, NTRKR3		9659899	Standard	XM_005245221		Approved	TKT	uc001gcg.3	Q16832	OTTHUMG00000034423	ENST00000367922.3:c.2460T>C	1.37:g.162749928T>C						DDR2_ENST00000367921.3_Silent_p.C820C	p.C820C	NM_001014796.1	NP_001014796.1	Q16832	DDR2_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.113)		19	2898	+	all_hematologic(112;0.115)		820			Protein kinase.		Q7Z730	Silent	SNP	ENST00000367922.3	37	c.2460T>C	CCDS1241.1																																																																																				0.453	DDR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083213.2	NM_006182		65	87	0	0	0	1	0	65	87					C	162749928	T	C	162749928	2	2	435	1	0	0	0	0	0	0	0	1	4337	1673	58	4		4	DDR2	1	162749928	Silent	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	24385	162749928	86500693	696	21621											
C1orf110	339512	broad.mit.edu	37	chr1	162824960	162824960	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgcccttgctggggtctacGtccttagatggattcacaga	8	12	11	10	1	2	2	1	0	1	2	3	3	3	3	2	3	3	1	2	3	2	4	rs190249067	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:162824960G>A	ENST00000367910.1	-	4	624	c.504C>T	c.(502-504)gaC>gaT	p.D168D	C1orf110_ENST00000367912.2_Silent_p.D167D|C1orf110_ENST00000367911.2_Silent_p.D163D|C1orf110_ENST00000524691.1_Intron	NM_178550.4	NP_848645.3	Q86UF4	CA110_HUMAN	chromosome 1 open reading frame 110	168										endometrium(2)|kidney(1)|lung(6)|prostate(1)|skin(2)	12						TGGGGTCTACGTCCTTAGATG	0.463													G|||	3	0.000599042	0	0	5008	,	,		20117	0.002		0.001	False		,,,				2504	0					ENST00000367912.1																			0				endometrium(2)|kidney(1)|lung(6)|prostate(1)|skin(2)	12						c.(499-501)gaC>gaT		chromosome 1 open reading frame 110		G		2,3840		0,2,1919	274	261	265		504	-0.1	0	1		265	33,8235		0,33,4101	no	coding-synonymous	C1orf110	NM_178550.4		0,35,6020	AA,AG,GG		0.3991,0.0521,0.289		168/303	162824960	35,12075	1921	4134	6055	SO:0001819	synonymous_variant	339512							g.chr1:162824960G>A	BC040018	CCDS44269.1	1q23.3	2012-06-26			ENSG00000185860	ENSG00000185860			28736	protein-coding gene	gene with protein product						12477932	Standard	NM_178550		Approved	MGC48998	uc001gck.2	Q86UF4	OTTHUMG00000034421	ENST00000367910.1:c.504C>T	1.37:g.162824960G>A						C1orf110_ENST00000367910.1_Silent_p.D168D|C1orf110_ENST00000524691.1_Intron|C1orf110_ENST00000367911.2_Silent_p.D163D	p.D167D			Q86UF4	CA110_HUMAN			4	675	-			168					Q5JSG1|Q6ZW57	Silent	SNP	ENST00000367910.1	37	c.501C>T	CCDS44269.1																																																																																				0.463	C1orf110-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083211.2	NM_178550		8	157	0	0	0	1	0	8	157					A	162824960	G	A	162824960	2	1	435	1	0	0	0	0	0	0	0	1	1983	1136	40	1		1	C1orf110	1	162824960	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	75032	162824960	86425661	697	21622											
PBX1	5087	broad.mit.edu	37	chr1	164761813	164761813	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacatgctgttagcggaaggCgtggcggggcctgagaaggg	9	6	19	7	3	0	1	0	1	0	1	0	3	0	2	1	6	3	2	1	6	4	1	rs200580172		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:164761813C>T	ENST00000420696.2	+	3	536	c.348C>T	c.(346-348)ggC>ggT	p.G116G	PBX1_ENST00000540236.1_Silent_p.G116G|PBX1_ENST00000367897.1_Silent_p.G116G|PBX1_ENST00000560641.1_Silent_p.G11G|PBX1_ENST00000401534.1_Silent_p.G116G|PBX1_ENST00000559240.1_Silent_p.G116G|PBX1_ENST00000540246.1_Silent_p.G11G	NM_001204961.1|NM_001204963.1|NM_002585.3	NP_001191890.1|NP_001191892.1|NP_002576.1	P40424	PBX1_HUMAN	pre-B-cell leukemia homeobox 1	116					adrenal gland development (GO:0030325)|anterior/posterior pattern specification (GO:0009952)|branching involved in ureteric bud morphogenesis (GO:0001658)|embryonic hemopoiesis (GO:0035162)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal system development (GO:0048706)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|organ morphogenesis (GO:0009887)|positive regulation of cell proliferation (GO:0008284)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|proximal/distal pattern formation (GO:0009954)|regulation of ossification (GO:0030278)|sex differentiation (GO:0007548)|spleen development (GO:0048536)|steroid biosynthetic process (GO:0006694)|thymus development (GO:0048538)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)		EWSR1/PBX1(3)	large_intestine(1)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	4						TAGCGGAAGGCGTGGCGGGGC	0.627			T	"TCF3, EWSR1"	"pre B-ALL, myoepithelioma"								c|||	1	0.000199681	8e-04	0	5008	,	,		12541	0		0	False		,,,				2504	0					ENST00000420696.2				Dom	yes		1	1q23	5087	T	pre-B-cell leukemia transcription factor 1			"L, M"	"TCF3, EWSR1"		"pre B-ALL, myoepithelioma"	EWSR1/PBX1(3)	0				large_intestine(1)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	4						c.(346-348)ggC>ggT		pre-B-cell leukemia homeobox 1							28	33	31					1																	164761813		2203	4300	6503	SO:0001819	synonymous_variant	5087				negative regulation of sequence-specific DNA binding transcription factor activity|sex differentiation|steroid biosynthetic process	cytoplasm|nucleus	sequence-specific DNA binding transcription factor activity|transcription factor binding	g.chr1:164761813C>T	M86546	CCDS1246.1, CCDS55654.1	1q23.3	2011-06-20	2007-01-30		ENSG00000185630	ENSG00000185630		"Homeoboxes / TALE class"	8632	protein-coding gene	gene with protein product		176310	"pre-B-cell leukemia transcription factor 1"				Standard	NM_002585		Approved		uc001gct.3	P40424	OTTHUMG00000034307	ENST00000420696.2:c.348C>T	1.37:g.164761813C>T						PBX1_ENST00000367897.1_Silent_p.G116G|PBX1_ENST00000540246.1_Silent_p.G11G|PBX1_ENST00000540236.1_Silent_p.G116G|PBX1_ENST00000559240.1_Silent_p.G116G|PBX1_ENST00000560641.1_Silent_p.G11G|PBX1_ENST00000401534.1_Silent_p.G116G	p.G116G	NM_001204961.1|NM_001204963.1|NM_002585.3	NP_001191890.1|NP_001191892.1|NP_002576.1	P40424	PBX1_HUMAN			3	536	+			116					B4DSC1|F5H4U9|Q5T488	Silent	SNP	ENST00000420696.2	37	c.348C>T	CCDS1246.1																																																																																				0.627	PBX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000082864.4	NM_002585		5	28	0	0	0	1	0	5	28					T	164761813	C	T	164761813	2	4	435	1	0	0	0	0	0	0	0	1	11492	755	27	1		1	PBX1	1	164761813	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	1936853	164761813	84488808	698	21623											
PBX1	5087	broad.mit.edu	37	chr1	164761860	164761860	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtcggcggcagcggcggcagCggcggcggcttctggagggg	3	4	23	11	7	1	0	0	0	1	0	2	1	1	1	0	10	2	3	0	10	0	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:164761860C>T	ENST00000420696.2	+	3	583	c.395C>T	c.(394-396)gCg>gTg	p.A132V	PBX1_ENST00000540236.1_Missense_Mutation_p.A132V|PBX1_ENST00000367897.1_Missense_Mutation_p.A132V|PBX1_ENST00000560641.1_Missense_Mutation_p.A27V|PBX1_ENST00000401534.1_Missense_Mutation_p.A132V|PBX1_ENST00000559240.1_Missense_Mutation_p.A132V|PBX1_ENST00000540246.1_Missense_Mutation_p.A27V	NM_001204961.1|NM_001204963.1|NM_002585.3	NP_001191890.1|NP_001191892.1|NP_002576.1	P40424	PBX1_HUMAN	pre-B-cell leukemia homeobox 1	132	Poly-Ala.				adrenal gland development (GO:0030325)|anterior/posterior pattern specification (GO:0009952)|branching involved in ureteric bud morphogenesis (GO:0001658)|embryonic hemopoiesis (GO:0035162)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal system development (GO:0048706)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|organ morphogenesis (GO:0009887)|positive regulation of cell proliferation (GO:0008284)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|proximal/distal pattern formation (GO:0009954)|regulation of ossification (GO:0030278)|sex differentiation (GO:0007548)|spleen development (GO:0048536)|steroid biosynthetic process (GO:0006694)|thymus development (GO:0048538)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)		EWSR1/PBX1(3)	large_intestine(1)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	4						gcggcggcagcggcggcggcT	0.617			T	"TCF3, EWSR1"	"pre B-ALL, myoepithelioma"																																	ENST00000420696.2				Dom	yes		1	1q23	5087	T	pre-B-cell leukemia transcription factor 1			"L, M"	"TCF3, EWSR1"		"pre B-ALL, myoepithelioma"	EWSR1/PBX1(3)	0				large_intestine(1)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	4						c.(394-396)gCg>gTg		pre-B-cell leukemia homeobox 1							18	24	22					1																	164761860		2193	4278	6471	SO:0001583	missense	5087				negative regulation of sequence-specific DNA binding transcription factor activity|sex differentiation|steroid biosynthetic process	cytoplasm|nucleus	sequence-specific DNA binding transcription factor activity|transcription factor binding	g.chr1:164761860C>T	M86546	CCDS1246.1, CCDS55654.1	1q23.3	2011-06-20	2007-01-30		ENSG00000185630	ENSG00000185630		"Homeoboxes / TALE class"	8632	protein-coding gene	gene with protein product		176310	"pre-B-cell leukemia transcription factor 1"				Standard	NM_002585		Approved		uc001gct.3	P40424	OTTHUMG00000034307	ENST00000420696.2:c.395C>T	1.37:g.164761860C>T	ENSP00000405890:p.Ala132Val					PBX1_ENST00000367897.1_Missense_Mutation_p.A132V|PBX1_ENST00000540246.1_Missense_Mutation_p.A27V|PBX1_ENST00000540236.1_Missense_Mutation_p.A132V|PBX1_ENST00000559240.1_Missense_Mutation_p.A132V|PBX1_ENST00000560641.1_Missense_Mutation_p.A27V|PBX1_ENST00000401534.1_Missense_Mutation_p.A132V	p.A132V	NM_001204961.1|NM_001204963.1|NM_002585.3	NP_001191890.1|NP_001191892.1|NP_002576.1	P40424	PBX1_HUMAN			3	583	+			132			Poly-Ala.		B4DSC1|F5H4U9|Q5T488	Missense_Mutation	SNP	ENST00000420696.2	37	c.395C>T	CCDS1246.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.225702	0.79576	.	.	ENSG00000185630	ENST00000340699;ENST00000420696;ENST00000367897;ENST00000540236;ENST00000401534;ENST00000540246	T;T;T;T;T;T	0.35789	1.29;1.29;1.29;1.29;1.29;1.29	5.5	5.5	0.81552	PBX (1);	0.000000	0.85682	D	0.000000	T	0.45498	0.1345	M	0.76574	2.34	0.09310	N	1.0	P;P;D;P;B	0.61080	0.873;0.766;0.989;0.883;0.359	B;P;P;P;B	0.52514	0.343;0.49;0.701;0.49;0.229	T	0.49679	-0.8914	9	0.56958	D	0.05	-8.5396	18.9768	0.92740	0.0:1.0:0.0:0.0	.	27;132;132;132;132	B7Z774;A8K5V0;F5H4U9;P40424;Q53YC7	.;.;.;PBX1_HUMAN;.	V	132;132;132;132;132;27	ENSP00000341455:A132V;ENSP00000405890:A132V;ENSP00000356872:A132V;ENSP00000439943:A132V;ENSP00000384856:A132V;ENSP00000440869:A27V	ENSP00000341455:A132V	A	+	2	0	PBX1	163028484	0.997000	0.39634	0.106000	0.21319	0.216000	0.24613	3.633000	0.54295	2.555000	0.86185	0.563000	0.77884	GCG		0.617	PBX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000082864.4	NM_002585		18	22	0	0	0	1	0	18	22					T	164761860	C	T	164761860	3	4	435	1	0	0	0	0	1	0	0	0	11492	768	27	1	405	1	PBX1	1	164761860	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	47	164761860	84488761	699	21624											
RXRG	6258	broad.mit.edu	37	chr1	165386316	165386316	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgacaaggcacttctgatagCgacagtactggcagcggttg	10	9	13	9	2	1	2	0	2	1	0	1	3	1	2	0	3	3	4	0	3	3	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:165386316C>T	ENST00000359842.5	-	4	886	c.584G>A	c.(583-585)cGc>cAc	p.R195H	RXRG_ENST00000470566.1_5'UTR	NM_001256570.1|NM_006917.4	NP_001243499.1|NP_008848.1	P48443	RXRG_HUMAN	retinoid X receptor, gamma	195					gene expression (GO:0010467)|heart development (GO:0007507)|neuron differentiation (GO:0030182)|peripheral nervous system development (GO:0007422)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of myelination (GO:0031641)|response to retinoic acid (GO:0032526)|skeletal muscle tissue development (GO:0007519)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)	9-cis retinoic acid receptor activity (GO:0004886)|sequence-specific DNA binding (GO:0043565)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(3)|large_intestine(6)|lung(22)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	38	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)				Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Bexarotene(DB00307)|Tretinoin(DB00755)	CTTCTGATAGCGACAGTACTG	0.507																																						ENST00000359842.5																			0				endometrium(1)|kidney(3)|large_intestine(6)|lung(22)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	38						c.(583-585)cGc>cAc		retinoid X receptor, gamma	Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tretinoin(DB00755)						113	99	104					1																	165386316		2203	4300	6503	SO:0001583	missense	6258				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding	g.chr1:165386316C>T	U38480	CCDS1248.1, CCDS72970.1	1q22-q23	2013-01-16			ENSG00000143171	ENSG00000143171		"Nuclear hormone receptors"	10479	protein-coding gene	gene with protein product	"nuclear receptor subfamily 2 group B member 3"	180247				8034312	Standard	NR_033824		Approved	NR2B3	uc001gda.3	P48443	OTTHUMG00000034626	ENST00000359842.5:c.584G>A	1.37:g.165386316C>T	ENSP00000352900:p.Arg195His					RXRG_ENST00000470566.1_5'UTR	p.R195H	NM_001256570.1|NM_006917.4	NP_001243499.1|NP_008848.1	P48443	RXRG_HUMAN			4	886	-	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)		195					A6NIP1|Q6IBU7	Missense_Mutation	SNP	ENST00000359842.5	37	c.584G>A	CCDS1248.1	.	.	.	.	.	.	.	.	.	.	C	33	5.281304	0.95489	.	.	ENSG00000143171	ENST00000359842	D	0.98585	-5.01	4.96	4.96	0.65561	Zinc finger, NHR/GATA-type (1);Zinc finger, nuclear hormone receptor-type (4);	0.000000	0.85682	D	0.000000	D	0.99576	0.9847	H	0.99851	4.845	0.80722	D	1.000000	D	0.89917	1.0	D	0.97110	1.0	D	0.97492	1.0054	9	0.87932	D	0	.	16.9732	0.86306	0.0:1.0:0.0:0.0	.	195	P48443	RXRG_HUMAN	H	195	ENSP00000352900:R195H	ENSP00000352900:R195H	R	-	2	0	RXRG	163652940	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.403000	0.79983	2.565000	0.86533	0.655000	0.94253	CGC		0.507	RXRG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083794.2	NM_006917		21	31	0	0	0	1	0	21	31					T	165386316	C	T	165386316	3	4	435	1	0	0	0	0	1	0	0	0	13765	768	27	1	835	1	RXRG	1	165386316	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	624456	165386316	83864305	700	21625											
UCK2	7371	broad.mit.edu	37	chr1	165865434	165865434	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ctgtgctttgcaggaaggagGagacagttactgtctatccc	9	11	12	9	0	1	1	0	0	1	1	2	4	2	3	1	3	3	3	1	3	3	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:165865434G>A	ENST00000367879.4	+	4	667	c.364G>A	c.(364-366)Gag>Aag	p.E122K	UCK2_ENST00000470820.1_5'UTR|RP11-525G13.2_ENST00000455257.2_RNA|UCK2_ENST00000372212.4_Intron|UCK2_ENST00000469256.2_5'UTR|UCK2_ENST00000462329.1_3'UTR	NM_012474.4	NP_036606.2	Q9BZX2	UCK2_HUMAN	uridine-cytidine kinase 2	122					cellular response to oxygen levels (GO:0071453)|CTP salvage (GO:0044211)|feeding behavior (GO:0007631)|nucleobase-containing small molecule metabolic process (GO:0055086)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside salvage (GO:0043097)|response to axon injury (GO:0048678)|small molecule metabolic process (GO:0044281)|UMP salvage (GO:0044206)	cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)	ATP binding (GO:0005524)|nucleoside kinase activity (GO:0019206)|uridine kinase activity (GO:0004849)			breast(1)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	10	all_hematologic(923;0.048)|Acute lymphoblastic leukemia(8;0.155)					CAGGAAGGAGGAGACAGTTAC	0.547																																						ENST00000367879.4																			0				breast(1)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	10						c.(364-366)Gag>Aag		uridine-cytidine kinase 2							200	186	191					1																	165865434		2203	4300	6503	SO:0001583	missense	7371				pyrimidine base metabolic process|pyrimidine nucleoside salvage	cytosol	ATP binding|phosphotransferase activity, alcohol group as acceptor|uridine kinase activity	g.chr1:165865434G>A	AF236637	CCDS1252.1	1p32	2012-10-02	2004-07-13	2004-07-14	ENSG00000143179	ENSG00000143179	2.7.1.48		12562	protein-coding gene	gene with protein product		609329	"uridine monophosphate kinase"	UMPK			Standard	NM_012474		Approved		uc001gdp.3	Q9BZX2	OTTHUMG00000040117	ENST00000367879.4:c.364G>A	1.37:g.165865434G>A	ENSP00000356853:p.Glu122Lys					RP11-525G13.2_ENST00000455257.1_RNA|UCK2_ENST00000372212.4_Intron	p.E122K	NM_012474.4	NP_036606.2	Q9BZX2	UCK2_HUMAN			4	667	+	all_hematologic(923;0.048)|Acute lymphoblastic leukemia(8;0.155)		122					Q5VV91|Q7KZV3|Q92528|Q96KG5|Q9BU42	Missense_Mutation	SNP	ENST00000367879.4	37	c.364G>A	CCDS1252.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.071109	0.76301	.	.	ENSG00000143179	ENST00000367879	.	.	.	5.29	5.29	0.74685	Phosphoribulokinase/uridine kinase (1);	0.000000	0.85682	D	0.000000	T	0.47600	0.1454	L	0.59967	1.855	0.58432	D	0.999995	B	0.21225	0.053	B	0.20184	0.028	T	0.50709	-0.8796	8	0.41790	T	0.15	-44.9494	16.4441	0.83910	0.0:0.0:1.0:0.0	.	122	Q9BZX2	UCK2_HUMAN	K	122	.	ENSP00000356853:E122K	E	+	1	0	UCK2	164132058	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.615000	0.83006	2.475000	0.83589	0.655000	0.94253	GAG		0.547	UCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096753.1	NM_012474		10	166	0	0	0	1	0	10	166					A	165865434	G	A	165865434	3	1	435	1	0	0	0	0	1	0	0	0	16921	1175	41	3	378	3	UCK2	1	165865434	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	479118	165865434	83385187	701	21626											
DUSP27	92235	broad.mit.edu	37	chr1	167097501	167097501	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agccctacttcttccgccggAccccagagtcctcagaaagg	9	7	9	16	2	2	2	1	0	1	2	4	3	4	3	6	2	2	0	6	2	2	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:167097501A>G	ENST00000361200.2	+	6	3299	c.3133A>G	c.(3133-3135)Acc>Gcc	p.T1045A	DUSP27_ENST00000271385.5_Missense_Mutation_p.T1045A|DUSP27_ENST00000443333.1_Missense_Mutation_p.T1045A|DUSP27_ENST00000485151.1_Intron			Q5VZP5	DUS27_HUMAN	dual specificity phosphatase 27 (putative)	1045					protein dephosphorylation (GO:0006470)		protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						CTTCCGCCGGACCCCAGAGTC	0.582																																						ENST00000361200.2																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						c.(3133-3135)Acc>Gcc		dual specificity phosphatase 27 (putative)							31	36	34					1																	167097501		2203	4300	6503	SO:0001583	missense	92235				protein dephosphorylation		protein tyrosine/serine/threonine phosphatase activity	g.chr1:167097501A>G	AF119045	CCDS30932.1	1q22-q24	2008-02-05			ENSG00000198842	ENSG00000198842			25034	protein-coding gene	gene with protein product							Standard	NM_001080426		Approved		uc001geb.1	Q5VZP5	OTTHUMG00000034434	ENST00000361200.2:c.3133A>G	1.37:g.167097501A>G	ENSP00000354483:p.Thr1045Ala					DUSP27_ENST00000271385.5_Missense_Mutation_p.T1045A|DUSP27_ENST00000485151.1_Intron|DUSP27_ENST00000443333.1_Missense_Mutation_p.T1045A	p.T1045A			Q5VZP5	DUS27_HUMAN			6	3299	+			1045					A0AUM4|Q9C074	Missense_Mutation	SNP	ENST00000361200.2	37	c.3133A>G	CCDS30932.1	.	.	.	.	.	.	.	.	.	.	A	9.756	1.168877	0.21621	.	.	ENSG00000198842	ENST00000361200;ENST00000271385;ENST00000443333	T;T;T	0.03801	3.8;3.8;3.8	5.25	5.25	0.73442	.	0.395446	0.21728	N	0.070001	T	0.02193	0.0068	L	0.44542	1.39	0.28592	N	0.909594	B	0.26363	0.147	B	0.22152	0.038	T	0.29488	-1.0010	10	0.87932	D	0	-25.6022	11.5133	0.50507	0.866:0.0:0.0:0.134	.	1045	Q5VZP5	DUS27_HUMAN	A	1045	ENSP00000354483:T1045A;ENSP00000271385:T1045A;ENSP00000404874:T1045A	ENSP00000271385:T1045A	T	+	1	0	DUSP27	165364125	0.996000	0.38824	0.884000	0.34674	0.310000	0.27922	4.724000	0.61972	1.961000	0.56991	0.523000	0.50628	ACC		0.582	DUSP27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083244.1	NM_001080426		5	9	0	0	0	1	0	5	9					G	167097501	A	G	167097501	3	3	435	1	0	0	0	0	1	0	0	0	4824	275	10	4	3151	4	DUSP27	1	167097501	Missense_Mutation	SNP	A	TCGA-XK-AAIW-01A-11D-A41K-08	1232067	167097501	82153120	702	21627											
POU2F1	5451	broad.mit.edu	37	chr1	167367303	167367303	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aggaattgagggcttgagccGtaggaggaagaaacgcacca	14	5	15	7	2	0	3	0	2	0	1	0	6	0	6	2	4	2	3	2	4	4	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:167367303G>A	ENST00000541643.3	+	12	1295	c.1133G>A	c.(1132-1134)cGt>cAt	p.R378H	POU2F1_ENST00000420254.3_Missense_Mutation_p.R378H|POU2F1_ENST00000429375.2_Missense_Mutation_p.R338H|POU2F1_ENST00000367865.1_3'UTR|POU2F1_ENST00000367862.5_Missense_Mutation_p.R390H|POU2F1_ENST00000367866.2_Missense_Mutation_p.R401H			P14859	PO2F1_HUMAN	POU class 2 homeobox 1	378					gene expression (GO:0010467)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription from RNA polymerase III promoter (GO:0006383)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(3)|liver(2)|lung(7)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	30						GGCTTGAGCCGTAGGAGGAAG	0.463																																						ENST00000367862.5																			0				breast(2)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(3)|liver(2)|lung(7)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	30						c.(1168-1170)cGt>cAt		POU class 2 homeobox 1							116	110	112					1																	167367303		2203	4300	6503	SO:0001583	missense	5451				negative regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr1:167367303G>A	BC001664	CCDS1259.1, CCDS1259.2, CCDS55655.1, CCDS55656.1	1q24.2	2011-06-20	2007-07-13		ENSG00000143190	ENSG00000143190		"Homeoboxes / POU class"	9212	protein-coding gene	gene with protein product		164175	"POU domain class 2, transcription factor 1"	OTF1		1887216	Standard	NM_002697		Approved	OCT1	uc001gee.3	P14859	OTTHUMG00000034436	ENST00000541643.3:c.1133G>A	1.37:g.167367303G>A	ENSP00000441285:p.Arg378His					POU2F1_ENST00000420254.3_Missense_Mutation_p.R378H|POU2F1_ENST00000367866.2_Missense_Mutation_p.R401H|POU2F1_ENST00000541643.3_Missense_Mutation_p.R378H|POU2F1_ENST00000429375.2_Missense_Mutation_p.R338H|POU2F1_ENST00000367865.1_3'UTR	p.R390H	NM_001198783.1	NP_001185712.1	P14859	PO2F1_HUMAN			11	1404	+			378					B1AL91|B1AL93|B4E029|J3KP77|Q5TBT7|Q6PK46|Q8NEU9|Q9BPV1	Missense_Mutation	SNP	ENST00000541643.3	37	c.1169G>A		.	.	.	.	.	.	.	.	.	.	G	27.8	4.865582	0.91511	.	.	ENSG00000143190	ENST00000367866;ENST00000429375;ENST00000367865;ENST00000420254;ENST00000541643;ENST00000367862;ENST00000443275	T;D;T;T;T;T;T	0.95949	-1.08;-3.86;-1.08;-1.08;-1.08;-1.08;-1.08	6.0	6.0	0.97389	Homeodomain-related (1);Homeobox (1);POU (1);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	D	0.98626	0.9540	H	0.96111	3.77	0.80722	D	1	D;D;D;D;D	0.69078	0.995;0.984;0.997;0.997;0.995	P;D;D;D;P	0.69654	0.878;0.965;0.943;0.961;0.878	D	0.99029	1.0820	10	0.87932	D	0	.	20.483	0.99199	0.0:0.0:1.0:0.0	.	338;378;390;376;378	B4E029;P14859-4;P14859-2;P14859-3;P14859	.;.;.;.;PO2F1_HUMAN	H	401;338;376;378;378;390;286	ENSP00000356840:R401H;ENSP00000401217:R338H;ENSP00000356839:R376H;ENSP00000414660:R378H;ENSP00000441285:R378H;ENSP00000356836:R390H;ENSP00000415993:R286H	ENSP00000356836:R390H	R	+	2	0	POU2F1	165633927	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.789000	0.99068	2.836000	0.97738	0.655000	0.94253	CGT		0.463	POU2F1-203	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_002697		7	41	0	0	0	1	0	7	41					A	167367303	G	A	167367303	3	1	435	1	0	0	0	0	1	0	0	0	12271	1145	40	1	1171	1	POU2F1	1	167367303	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	269802	167367303	81883318	703	21628											
CD247	919	broad.mit.edu	37	chr1	167410003	167410003	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agcaggccaaagctctgtgcCtctgtgccaagagataaagc	12	7	11	11	0	2	1	0	0	2	1	2	2	2	1	3	1	5	2	3	1	4	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:167410003C>A	ENST00000362089.5	-	2	132	c.60G>T	c.(58-60)gaG>gaT	p.E20D	CD247_ENST00000483825.1_5'UTR|CD247_ENST00000392122.3_Splice_Site_p.E20D			P20963	CD3Z_HUMAN	CD247 molecule	20					Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|regulation of defense response to virus by virus (GO:0050690)|regulation of immune response (GO:0050776)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	alpha-beta T cell receptor complex (GO:0042105)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|T cell receptor complex (GO:0042101)	identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|transmembrane signaling receptor activity (GO:0004888)			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1)|skin(1)	6			LUSC - Lung squamous cell carcinoma(543;0.236)		Muromonab(DB00075)	AGCTCTGTGCCTCTGTGCCAA	0.517																																					Ovarian(192;1815 2869 36877 43334)	ENST00000392122.3																			0				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1)|skin(1)	6						c.e2-1		CD247 molecule							86	71	76					1																	167410003		2203	4300	6503	SO:0001630	splice_region_variant	919				interspecies interaction between organisms|regulation of defense response to virus by virus|T cell costimulation|T cell receptor signaling pathway|viral reproduction	cytoplasm|integral to membrane	protein homodimerization activity|transmembrane receptor activity	g.chr1:167410003C>A	BC025703	CCDS1260.1, CCDS1261.1	1q24.2	2014-09-17	2006-03-28	2006-03-09	ENSG00000198821	ENSG00000198821		"CD molecules"	1677	protein-coding gene	gene with protein product		186780	"CD3z antigen, zeta polypeptide (TiT3 complex)", "CD247 antigen"	CD3Z		2974162	Standard	NM_198053		Approved	CD3H, CD3Q	uc001gei.4	P20963	OTTHUMG00000034593	ENST00000362089.5:c.59-1G>T	1.37:g.167410003C>A						CD247_ENST00000362089.5_Splice_Site_p.E20_splice|CD247_ENST00000483825.1_5'UTR	p.E20_splice	NM_000734.3|NM_198053.2	NP_000725.1|NP_932170.1	P20963	CD3Z_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.236)		2	204	-			20					B1AK49|Q5VX13|Q8TAX4	Splice_Site	SNP	ENST00000362089.5	37	c.58_splice	CCDS1261.1	.	.	.	.	.	.	.	.	.	.	C	8.350	0.830777	0.16820	.	.	ENSG00000198821	ENST00000392122;ENST00000362089	.	.	.	4.99	-0.588	0.11687	.	0.576472	0.14061	N	0.344060	T	0.07143	0.0181	N	0.21282	0.65	0.29436	N	0.859488	B;B;B	0.18013	0.025;0.0;0.0	B;B;B	0.17433	0.018;0.002;0.001	T	0.31138	-0.9954	8	0.13853	T	0.58	.	2.7008	0.05148	0.3058:0.3068:0.2987:0.0887	.	20;20;20	Q6KAV0;P20963-3;P20963	.;.;CD3Z_HUMAN	D	20	.	ENSP00000354782:E20D	E	-	3	2	CD247	165676627	0.900000	0.30661	0.995000	0.50966	0.879000	0.50718	-0.418000	0.07080	-0.156000	0.11079	-0.176000	0.13171	GAG		0.517	CD247-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000083707.1	NM_198053	Missense_Mutation	8	4	1	0	0.000274275	1	0.000279654	8	4					A	167410003	C	A	167410003	5	1	435	1	0	0	0	0	0	0	1	0	2988	695	24	5	462	5	CD247	1	167410003	Splice_Site	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	42700	167410003	81840618	704	21629											
ADCY10	55811	broad.mit.edu	37	chr1	167793914	167793914	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaatggccaaatccaggtgTcccattatgagcttgttgaa	11	12	9	9	0	1	2	1	2	0	0	3	2	3	2	3	2	1	2	3	2	4	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:167793914T>C	ENST00000367851.4	-	27	4114	c.3930A>G	c.(3928-3930)ggA>ggG	p.G1310G	ADCY10_ENST00000545172.1_Silent_p.G1157G|ADCY10_ENST00000367848.1_Silent_p.G1218G	NM_018417.4	NP_060887.2	Q96PN6	ADCYA_HUMAN	adenylate cyclase 10 (soluble)	1310					cAMP biosynthetic process (GO:0006171)|intracellular signal transduction (GO:0035556)|positive regulation of apoptotic process (GO:0043065)|spermatogenesis (GO:0007283)	apical part of cell (GO:0045177)|axon (GO:0030424)|basal part of cell (GO:0045178)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite (GO:0030425)|growth cone (GO:0030426)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						AATCCAGGTGTCCCATTATGA	0.502																																						ENST00000367848.1																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						c.(3652-3654)ggA>ggG		adenylate cyclase 10 (soluble)							200	177	185					1																	167793914		2203	4300	6503	SO:0001819	synonymous_variant	55811				intracellular signal transduction|spermatogenesis	cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction	adenylate cyclase activity|ATP binding|magnesium ion binding	g.chr1:167793914T>C	AF271058	CCDS1265.1, CCDS53426.1, CCDS72977.1	1q24	2013-02-04			ENSG00000143199	ENSG00000143199	4.6.1.1	"Adenylate cyclases"	21285	protein-coding gene	gene with protein product	"soluble adenylyl cyclase", "Hypercalciuria, absorptive, 2"	605205					Standard	XM_006711449		Approved	SAC, Sacy, SACI, HCA2, RP1-313L4.2	uc001ger.3	Q96PN6	OTTHUMG00000034573	ENST00000367851.4:c.3930A>G	1.37:g.167793914T>C						ADCY10_ENST00000367851.4_Silent_p.G1310G|ADCY10_ENST00000545172.1_Silent_p.G1157G|ADCY10_ENST00000485964.1_5'UTR	p.G1218G			Q96PN6	ADCYA_HUMAN			27	4151	-			1310					B4DZF0|F5GWS5|O95558|Q5R329|Q5R330|Q8WXV4|Q9NNX0	Silent	SNP	ENST00000367851.4	37	c.3654A>G	CCDS1265.1																																																																																				0.502	ADCY10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083663.1	NM_018417		44	65	0	0	0	1	0	44	65					C	167793914	T	C	167793914	2	2	435	1	0	0	0	0	0	0	0	1	293	1654	58	4		4	ADCY10	1	167793914	Silent	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	383911	167793914	81456707	705	21630											
GPR161	23432	broad.mit.edu	37	chr1	168074014	168074014	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgaactgggtgatgatgacGcccccttcgccaccctcctc	7	9	9	16	2	0	4	0	4	0	0	3	4	1	4	5	1	1	0	5	1	1	1	rs115455892	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:168074014G>A	ENST00000367838.1	-	4	388	c.75C>T	c.(73-75)ggC>ggT	p.G25G	GPR161_ENST00000271357.5_Silent_p.G25G|GPR161_ENST00000367836.1_Intron|GPR161_ENST00000361697.2_Silent_p.G25G|GPR161_ENST00000367835.1_Silent_p.G25G|GPR161_ENST00000546300.1_Intron|GPR161_ENST00000537209.1_Silent_p.G45G|GPR161_ENST00000539777.1_Intron	NM_001267611.1|NM_153832.2	NP_001254540.1|NP_722561.1	Q8N6U8	GP161_HUMAN	G protein-coupled receptor 161	25					G-protein coupled receptor signaling pathway (GO:0007186)|multicellular organismal development (GO:0007275)|negative regulation of smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:1901621)|positive regulation of cAMP biosynthetic process (GO:0030819)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|primary cilium (GO:0072372)|recycling endosome (GO:0055037)	G-protein coupled receptor activity (GO:0004930)			breast(1)|endometrium(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(2)|skin(1)	26	all_hematologic(923;0.215)					TGATGATGACGCCCCCTTCGC	0.562													G|||	37	0.00738818	0.0265	0.0029	5008	,	,		21537	0		0	False		,,,				2504	0					ENST00000367838.1																			0				breast(1)|endometrium(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(2)|skin(1)	26						c.(73-75)ggC>ggT		G protein-coupled receptor 161		G		84,4322	70.9+/-108.8	2,80,2121	176	141	153		75	-0.8	0	1	dbSNP_132	153	0,8600		0,0,4300	no	coding-synonymous	GPR161	NM_153832.1		2,80,6421	AA,AG,GG		0.0,1.9065,0.6459		25/530	168074014	84,12922	2203	4300	6503	SO:0001819	synonymous_variant	23432				multicellular organismal development	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr1:168074014G>A	AF091890	CCDS1268.1, CCDS58042.1, CCDS58043.1, CCDS58044.1, CCDS58045.1, CCDS72978.1	1q23.3	2012-08-21			ENSG00000143147	ENSG00000143147		"GPCR / Class A : Orphans"	23694	protein-coding gene	gene with protein product		612250				11959142	Standard	NM_153832		Approved	RE2	uc009wvo.4	Q8N6U8	OTTHUMG00000034651	ENST00000367838.1:c.75C>T	1.37:g.168074014G>A						GPR161_ENST00000367835.1_Silent_p.G25G|GPR161_ENST00000271357.5_Silent_p.G25G|GPR161_ENST00000539777.1_Intron|GPR161_ENST00000546300.1_Intron|GPR161_ENST00000361697.2_Silent_p.G25G|GPR161_ENST00000367836.1_Intron|GPR161_ENST00000537209.1_Silent_p.G45G	p.G25G	NM_001267611.1|NM_153832.2	NP_001254540.1|NP_722561.1	Q8N6U8	GP161_HUMAN			4	388	-	all_hematologic(923;0.215)		25					B3KV34|B7Z5D7|B7Z5E8|B7Z5Z6|F5GXD6|F5H6J7|O75963|Q5TGK0|Q5TGK1|Q5TGK2	Silent	SNP	ENST00000367838.1	37	c.75C>T	CCDS1268.1																																																																																				0.562	GPR161-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083829.1	NM_007369		18	30	0	0	0	1	0	18	30					A	168074014	G	A	168074014	2	1	435	1	0	0	0	0	0	0	0	1	6665	1074	38	1		1	GPR161	1	168074014	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	280100	168074014	81176607	706	21631											
DPT	1805	broad.mit.edu	37	chr1	168683472	168683472	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gactcaccagcaggaatatgGgcacctcttgctgtagcgac	10	8	11	12	1	2	0	1	0	1	0	2	3	2	1	2	2	3	4	2	2	3	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:168683472G>A	ENST00000367817.3	-	2	507	c.418C>T	c.(418-420)Cca>Tca	p.P140S		NM_001937.4	NP_001928.2	Q07507	DERM_HUMAN	dermatopontin	140	2 X 53-55 AA tandem repeats.|3 X 6 AA repeats of D-R-[EQ]-W-[NQK]- [FY].				cell adhesion (GO:0007155)|collagen fibril organization (GO:0030199)|negative regulation of cell proliferation (GO:0008285)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)				kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)	12	all_hematologic(923;0.208)					CAGGAATATGGGCACCTCTTG	0.567																																						ENST00000367817.3																			0				kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)	12						c.(418-420)Cca>Tca		dermatopontin							82	73	76					1																	168683472		2203	4300	6503	SO:0001583	missense	1805				cell adhesion	extracellular space|proteinaceous extracellular matrix		g.chr1:168683472G>A	BC033736	CCDS1275.1	1q12-q23	2008-02-05			ENSG00000143196	ENSG00000143196			3011	protein-coding gene	gene with protein product		125597				8104875	Standard	NM_001937		Approved		uc001gfp.3	Q07507	OTTHUMG00000034554	ENST00000367817.3:c.418C>T	1.37:g.168683472G>A	ENSP00000356791:p.Pro140Ser						p.P140S	NM_001937.4	NP_001928.2	Q07507	DERM_HUMAN			2	507	-	all_hematologic(923;0.208)		140			2 X 53-55 AA tandem repeats.|3 X 6 AA repeats of D-R-[EQ]-W-[NQK]- [FY].		A8K981|Q8N4R2|Q9UIX8	Missense_Mutation	SNP	ENST00000367817.3	37	c.418C>T	CCDS1275.1	.	.	.	.	.	.	.	.	.	.	G	13.28	2.190189	0.38707	.	.	ENSG00000143196	ENST00000367817	T	0.41065	1.01	5.81	5.81	0.92471	.	0.052314	0.85682	D	0.000000	T	0.17023	0.0409	L	0.31926	0.97	0.44055	D	0.996796	B	0.21753	0.06	B	0.23419	0.046	T	0.06716	-1.0811	9	0.18710	T	0.47	-5.2217	12.2148	0.54400	0.0788:0.0:0.9212:0.0	.	140	Q07507	DERM_HUMAN	S	140	ENSP00000356791:P140S	ENSP00000356791:P140S	P	-	1	0	DPT	166950096	1.000000	0.71417	0.996000	0.52242	0.883000	0.51084	5.837000	0.69381	2.746000	0.94184	0.655000	0.94253	CCA		0.567	DPT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083618.1	NM_001937		13	12	0	0	0	1	0	13	12					A	168683472	G	A	168683472	3	1	435	1	0	0	0	0	1	0	0	0	4739	1232	43	3	199	3	DPT	1	168683472	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	609458	168683472	80567149	707	21632											
NME7	29922	broad.mit.edu	37	chr1	169206902	169206902	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	aaaacctgcatctcggatagCcatcaggatctttcccaaca	13	9	6	13	1	3	0	1	0	2	0	5	2	4	2	3	2	4	1	3	2	4	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:169206902C>T	ENST00000367811.3	-	8	1034	c.778G>A	c.(778-780)Gct>Act	p.A260T	NME7_ENST00000472647.1_Missense_Mutation_p.A224T	NM_013330.3	NP_037462.1	Q9Y5B8	NDK7_HUMAN	NME/NM23 family member 7	260					brain development (GO:0007420)|ciliary receptor clustering involved in smoothened signaling pathway (GO:0060830)|CTP biosynthetic process (GO:0006241)|determination of left/right symmetry (GO:0007368)|epithelial cilium movement (GO:0003351)|GTP biosynthetic process (GO:0006183)|intraciliary transport (GO:0042073)|left/right pattern formation (GO:0060972)|UTP biosynthetic process (GO:0006228)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|nucleoside diphosphate kinase activity (GO:0004550)			central_nervous_system(1)|kidney(1)|large_intestine(5)|lung(8)|skin(1)	16	all_hematologic(923;0.208)					TCTCGGATAGCCATCAGGATC	0.303																																						ENST00000367811.3																			0				central_nervous_system(1)|kidney(1)|large_intestine(5)|lung(8)|skin(1)	16						c.(778-780)Gct>Act		NME/NM23 family member 7							73	70	71					1																	169206902		2202	4300	6502	SO:0001583	missense	29922				CTP biosynthetic process|GTP biosynthetic process|UTP biosynthetic process	centrosome	ATP binding|metal ion binding|nucleoside diphosphate kinase activity	g.chr1:169206902C>T	AF153191	CCDS1277.1, CCDS44274.1	1q24.2	2014-07-31	2012-05-18		ENSG00000143156	ENSG00000143156			20461	protein-coding gene	gene with protein product	"cilia and flagella associated protein 67"	613465	"non-metastatic cells 7, protein expressed in (nucleoside-diphosphate kinase)"			19852809	Standard	NM_197972		Approved	FLJ37194, NM23-H7, CFAP67	uc001gfu.3	Q9Y5B8	OTTHUMG00000034586	ENST00000367811.3:c.778G>A	1.37:g.169206902C>T	ENSP00000356785:p.Ala260Thr					NME7_ENST00000472647.1_Missense_Mutation_p.A224T	p.A260T	NM_013330.3	NP_037462.1	Q9Y5B8	NDK7_HUMAN			8	1034	-	all_hematologic(923;0.208)		260					A8K3T6|A8MY09|B3KSW9|Q5TGZ4	Missense_Mutation	SNP	ENST00000367811.3	37	c.778G>A	CCDS1277.1	.	.	.	.	.	.	.	.	.	.	C	11.24	1.581489	0.28180	.	.	ENSG00000143156	ENST00000472647;ENST00000367811	T;T	0.54866	0.55;0.55	5.6	3.74	0.42951	.	0.220086	0.47455	N	0.000223	T	0.29882	0.0747	M	0.85373	2.75	0.28507	N	0.913732	B	0.02656	0.0	B	0.12156	0.007	T	0.17684	-1.0361	9	0.13853	T	0.58	-10.5006	5.3993	0.16286	0.1607:0.6724:0.0:0.167	.	260	Q9Y5B8	NDK7_HUMAN	T	224;260	ENSP00000433341:A224T;ENSP00000356785:A260T	ENSP00000356785:A260T	A	-	1	0	NME7	167473526	0.965000	0.33210	0.997000	0.53966	0.857000	0.48899	0.405000	0.21015	0.744000	0.32741	0.555000	0.69702	GCT		0.303	NME7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083688.1	NM_013330		24	85	0	0	0	1	0	24	85					T	169206902	C	T	169206902	3	4	435	1	0	0	0	0	1	0	0	0	10496	739	26	3	372	3	NME7	1	169206902	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	523430	169206902	80043719	708	21633											
F5	2153	broad.mit.edu	37	chr1	169492481	169492481	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaagatctgccagttgatcTggttggaactgtaagctaca	11	12	11	7	0	2	3	0	2	2	1	2	4	2	4	1	2	4	4	1	2	4	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:169492481T>G	ENST00000367797.3	-	21	6203	c.6002A>C	c.(6001-6003)cAg>cCg	p.Q2001P	F5_ENST00000367796.3_Missense_Mutation_p.Q2006P	NM_000130.4	NP_000121	P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	2001	F5/8 type C 1. {ECO:0000255|PROSITE- ProRule:PRU00081}.				blood circulation (GO:0008015)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)|vesicle (GO:0031982)	copper ion binding (GO:0005507)			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				ART-123(DB05777)|Drotrecogin alfa(DB00055)	CCAGTTGATCTGGTTGGAACT	0.433																																						ENST00000367796.3																			0				NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128						c.(6016-6018)cAg>cCg		coagulation factor V (proaccelerin, labile factor)	Drotrecogin alfa(DB00055)						217	194	202					1																	169492481		2203	4300	6503	SO:0001583	missense	2153				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity	g.chr1:169492481T>G	M14335	CCDS1281.1	1q23	2012-10-02			ENSG00000198734	ENSG00000198734			3542	protein-coding gene	gene with protein product		612309					Standard	NM_000130		Approved		uc001ggg.1	P12259	OTTHUMG00000034595	ENST00000367797.3:c.6002A>C	1.37:g.169492481T>G	ENSP00000356771:p.Gln2001Pro					F5_ENST00000367797.3_Missense_Mutation_p.Q2001P	p.Q2006P			P12259	FA5_HUMAN			21	6218	-	all_hematologic(923;0.208)		2001			F5/8 type C 1.		A8K6E8|Q14285|Q2EHR5|Q5R346|Q5R347|Q6UPU6|Q8WWQ6	Missense_Mutation	SNP	ENST00000367797.3	37	c.6017A>C	CCDS1281.1	.	.	.	.	.	.	.	.	.	.	T	13.90	2.374945	0.42105	.	.	ENSG00000198734	ENST00000367797;ENST00000367796	D;D	0.98862	-5.19;-5.19	5.49	-6.81	0.01704	Coagulation factor 5/8 C-terminal type domain (3);Galactose-binding domain-like (1);	1.685430	0.02775	N	0.120124	D	0.96491	0.8855	L	0.39245	1.2	0.31108	N	0.7102820000000001	P	0.51449	0.945	P	0.51487	0.671	D	0.89093	0.3484	9	0.46703	T	0.11	5.2015	16.7535	0.85493	0.0:0.559:0.0:0.441	.	2001	P12259	FA5_HUMAN	P	2001;2006	ENSP00000356771:Q2001P;ENSP00000356770:Q2006P	ENSP00000356770:Q2006P	Q	-	2	0	F5	167759105	0.000000	0.05858	0.001000	0.08648	0.751000	0.42716	-0.413000	0.07123	-1.345000	0.02214	-0.263000	0.10527	CAG		0.433	F5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000083712.1	NM_000130		30	32	0	0	0	1	0	30	32					G	169492481	T	G	169492481	3	3	435	1	0	0	0	0	1	0	0	0	5348	1580	55	5	692	5	F5	1	169492481	Missense_Mutation	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	285579	169492481	79758140	709	21634											
F5	2153	broad.mit.edu	37	chr1	169511013	169511013	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgcctgaccagtgtcattTgaggaattctgattatggtc	8	15	10	8	0	2	3	1	3	1	0	3	4	2	4	2	2	1	0	2	2	2	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:169511013T>C	ENST00000367797.3	-	13	3516	c.3315A>G	c.(3313-3315)tcA>tcG	p.S1105S	F5_ENST00000367796.3_Silent_p.S1110S	NM_000130.4	NP_000121	P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	1105	B.				blood circulation (GO:0008015)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)|vesicle (GO:0031982)	copper ion binding (GO:0005507)			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				ART-123(DB05777)|Drotrecogin alfa(DB00055)	CAGTGTCATTTGAGGAATTCT	0.463																																						ENST00000367796.3																			0				NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128						c.(3328-3330)tcA>tcG		coagulation factor V (proaccelerin, labile factor)	Drotrecogin alfa(DB00055)						128	124	125					1																	169511013		2203	4300	6503	SO:0001819	synonymous_variant	2153				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity	g.chr1:169511013T>C	M14335	CCDS1281.1	1q23	2012-10-02			ENSG00000198734	ENSG00000198734			3542	protein-coding gene	gene with protein product		612309					Standard	NM_000130		Approved		uc001ggg.1	P12259	OTTHUMG00000034595	ENST00000367797.3:c.3315A>G	1.37:g.169511013T>C						F5_ENST00000367797.3_Silent_p.S1105S	p.S1110S			P12259	FA5_HUMAN			13	3531	-	all_hematologic(923;0.208)		1105			B.		A8K6E8|Q14285|Q2EHR5|Q5R346|Q5R347|Q6UPU6|Q8WWQ6	Silent	SNP	ENST00000367797.3	37	c.3330A>G	CCDS1281.1																																																																																				0.463	F5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000083712.1	NM_000130		4	79	0	0	0	1	0	4	79					C	169511013	T	C	169511013	2	2	435	1	0	0	0	0	0	0	0	1	5348	1799	63	4		4	F5	1	169511013	Silent	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	18532	169511013	79739608	710	21635											
SELP	6403	broad.mit.edu	37	chr1	169578832	169578832	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	catgaaaccttcagcacagcGgaagctacagttggtgtcat	12	9	10	10	1	2	1	2	1	0	0	2	2	2	2	1	2	5	3	1	2	3	3	rs199507095		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:169578832G>A	ENST00000263686.6	-	8	1280	c.1243C>T	c.(1243-1245)Cgc>Tgc	p.R415C	SELP_ENST00000367791.2_Intron|SELP_ENST00000367786.2_Missense_Mutation_p.R353C|SELP_ENST00000367788.2_Missense_Mutation_p.R353C|SELP_ENST00000367794.2_Missense_Mutation_p.R353C|SELP_ENST00000367793.2_Missense_Mutation_p.R353C|SELP_ENST00000458599.2_Missense_Mutation_p.R353C|SELP_ENST00000367792.2_Missense_Mutation_p.R353C	NM_003005.3	NP_002996.2	P16109	LYAM3_HUMAN	selectin P (granule membrane protein 140kDa, antigen CD62)	415	Sushi 4. {ECO:0000255|PROSITE- ProRule:PRU00302}.				blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|defense response to Gram-negative bacterium (GO:0050829)|heterophilic cell-cell adhesion (GO:0007157)|inflammatory response (GO:0006954)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte tethering or rolling (GO:0050901)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of platelet activation (GO:0010572)|regulation of integrin activation (GO:0033623)|response to lipopolysaccharide (GO:0032496)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|platelet alpha granule membrane (GO:0031092)|platelet dense granule membrane (GO:0031088)	fucose binding (GO:0042806)|glycosphingolipid binding (GO:0043208)|heparin binding (GO:0008201)|lipopolysaccharide binding (GO:0001530)|oligosaccharide binding (GO:0070492)|sialic acid binding (GO:0033691)			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(32)|ovary(4)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(923;0.208)				Dalteparin(DB06779)|Heparin(DB01109)|Nadroparin(DB08813)	TCAGCACAGCGGAAGCTACAG	0.517																																						ENST00000263686.6																			0				breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(32)|ovary(4)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						c.(1243-1245)Cgc>Tgc		selectin P (granule membrane protein 140kDa, antigen CD62)	Clopidogrel(DB00758)|Heparin(DB01109)|Tirofiban(DB00775)						133	111	119					1																	169578832		2203	4300	6503	SO:0001583	missense	6403				platelet activation|platelet degranulation|positive regulation of platelet activation	external side of plasma membrane|extracellular space|integral to plasma membrane|membrane fraction|platelet alpha granule membrane|platelet dense granule membrane|soluble fraction	fucose binding|glycosphingolipid binding|heparin binding|lipopolysaccharide binding|oligosaccharide binding|sialic acid binding	g.chr1:169578832G>A	BC068533	CCDS1282.1	1q22-q25	2008-02-05	2002-08-29		ENSG00000174175	ENSG00000174175		"CD molecules"	10721	protein-coding gene	gene with protein product		173610	"selectin P (granule membrane protein 140kD, antigen CD62)"	GRMP		1375831	Standard	NM_003005		Approved	CD62, PSEL, PADGEM, GMP140, CD62P	uc001ggi.4	P16109	OTTHUMG00000034685	ENST00000263686.6:c.1243C>T	1.37:g.169578832G>A	ENSP00000263686:p.Arg415Cys					SELP_ENST00000367788.2_Missense_Mutation_p.R353C|SELP_ENST00000367793.2_Missense_Mutation_p.R353C|SELP_ENST00000367794.2_Missense_Mutation_p.R353C|SELP_ENST00000367786.2_Missense_Mutation_p.R353C|SELP_ENST00000458599.2_Missense_Mutation_p.R353C|SELP_ENST00000367792.2_Missense_Mutation_p.R353C|SELP_ENST00000367791.2_Intron	p.R415C	NM_003005.3	NP_002996.2	P16109	LYAM3_HUMAN			8	1280	-	all_hematologic(923;0.208)		415			Sushi 4.		Q5R344|Q8IVD1	Missense_Mutation	SNP	ENST00000263686.6	37	c.1243C>T	CCDS1282.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.57|13.57	2.276591|2.276591	0.40294|0.40294	.|.	.|.	ENSG00000174175|ENSG00000174175	ENST00000446728|ENST00000367790;ENST00000426706;ENST00000367789;ENST00000263686;ENST00000544572;ENST00000367793;ENST00000367794;ENST00000367792;ENST00000367788;ENST00000367786;ENST00000458599	.|T;T;T;T;T;T	.|0.65916	.|-0.18;-0.18;-0.18;-0.18;-0.18;-0.18	5.74|5.74	3.86|3.86	0.44501|0.44501	.|Complement control module (2);Sushi/SCR/CCP (3);	.|1.827990	.|0.02349	.|N	.|0.075696	T|T	0.71230|0.71230	0.3315|0.3315	M|M	0.83774|0.83774	2.66|2.66	0.44500|0.44500	D|D	0.997442|0.997442	.|D;D;D	.|0.71674	.|0.997;0.997;0.998	.|D;P;P	.|0.63192	.|0.912;0.901;0.799	T|T	0.56890|0.56890	-0.7904|-0.7904	5|10	.|0.44086	.|T	.|0.13	-0.2348|-0.2348	8.3896|8.3896	0.32520|0.32520	0.0784:0.0:0.7683:0.1533|0.0784:0.0:0.7683:0.1533	.|.	.|415;415;415	.|Q6NUL9;P16109;G3V1U2	.|.;LYAM3_HUMAN;.	L|C	352|415;414;353;415;415;353;353;353;353;353;338	.|ENSP00000263686:R415C;ENSP00000356767:R353C;ENSP00000356768:R353C;ENSP00000356766:R353C;ENSP00000356762:R353C;ENSP00000356760:R353C	.|ENSP00000263686:R415C	P|R	-|-	2|1	0|0	SELP|SELP	167845456|167845456	0.000000|0.000000	0.05858|0.05858	0.543000|0.543000	0.28128|0.28128	0.023000|0.023000	0.10783|0.10783	-0.246000|-0.246000	0.08878|0.08878	0.764000|0.764000	0.33197|0.33197	0.650000|0.650000	0.86243|0.86243	CCG|CGC		0.517	SELP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000083916.4	NM_003005		13	26	0	0	0	1	0	13	26					A	169578832	G	A	169578832	3	1	435	1	0	0	0	0	1	0	0	0	14019	1116	39	2	1285	2	SELP	1	169578832	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	67819	169578832	79671789	711	21636											
SELL	6402	broad.mit.edu	37	chr1	169677595	169677595	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctttagtttgtggcaggcGtcatcgttccatttgcctgc	4	15	11	11	2	1	0	1	0	0	0	3	0	2	0	3	2	2	3	3	2	1	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:169677595G>A	ENST00000236147.4	-	3	634	c.474C>T	c.(472-474)gaC>gaT	p.D158D	C1orf112_ENST00000498289.1_Intron|SELL_ENST00000463108.1_5'UTR	NM_000655.4	NP_000646.2	P14151	LYAM1_HUMAN	selectin L	145	EGF-like. {ECO:0000255|PROSITE- ProRule:PRU00076}.				blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|leukocyte migration (GO:0050900)|regulation of immune response (GO:0050776)|response to ATP (GO:0033198)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|glycosphingolipid binding (GO:0043208)|heparin binding (GO:0008201)|protease binding (GO:0002020)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(3)|lung(5)|urinary_tract(1)	15	all_hematologic(923;0.208)					TGTGGCAGGCGTCATCGTTCC	0.502																																						ENST00000236147.4																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(3)|lung(5)|urinary_tract(1)	15						c.(472-474)gaC>gaT		selectin L							86	86	86					1																	169677595		2005	4173	6178	SO:0001819	synonymous_variant	6402				blood coagulation|cell adhesion|leukocyte migration|regulation of immune response	integral to plasma membrane	glycosphingolipid binding|heparin binding|protease binding|sugar binding	g.chr1:169677595G>A	M25280	CCDS53427.1	1q23-q25	2008-07-31	2008-07-31		ENSG00000188404	ENSG00000188404		"CD molecules"	10720	protein-coding gene	gene with protein product		153240	"lymphocyte adhesion molecule 1"	LYAM1, LNHR		2664786, 1375831	Standard	NR_029467		Approved	LSEL, LAM1, LAM-1, hLHRc, Leu-8, Lyam-1, PLNHR, CD62L	uc001ggk.3	P14151	OTTHUMG00000034809	ENST00000236147.4:c.474C>T	1.37:g.169677595G>A						C1orf112_ENST00000498289.1_Intron|SELL_ENST00000463108.1_5'UTR	p.D158D	NM_000655.4	NP_000646.2	P14151	LYAM1_HUMAN			3	634	-	all_hematologic(923;0.208)		145			EGF-like.		B2R6Q8|P15023|Q9UJ43	Silent	SNP	ENST00000236147.4	37	c.474C>T	CCDS53427.1																																																																																				0.502	SELL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084233.1	NM_000655		29	31	0	0	0	1	0	29	31					A	169677595	G	A	169677595	2	1	435	1	0	0	0	0	0	0	0	1	14016	1136	40	1		1	SELL	1	169677595	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	98763	169677595	79573026	712	21637											
FMO3	2328	broad.mit.edu	37	chr1	171085413	171085413	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atgagaaaatggagaaaaagCgcaaatggtaagagtaccta	20	6	11	4	1	0	3	0	1	0	3	0	5	0	3	1	2	2	3	1	2	8	3	rs149551557	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:171085413C>T	ENST00000367755.4	+	8	1360	c.1249C>T	c.(1249-1251)Cgc>Tgc	p.R417C	FMO3_ENST00000392085.2_Missense_Mutation_p.R417C|FMO3_ENST00000542847.1_Missense_Mutation_p.R397C|FMO3_ENST00000538429.1_Missense_Mutation_p.R354C	NM_001002294.2	NP_001002294.1	P31513	FMO3_HUMAN	flavin containing monooxygenase 3	417					drug metabolic process (GO:0017144)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)	amino acid binding (GO:0016597)|flavin adenine dinucleotide binding (GO:0050660)|N,N-dimethylaniline monooxygenase activity (GO:0004499)|NADP binding (GO:0050661)|trimethylamine monooxygenase activity (GO:0034899)			endometrium(1)|kidney(1)|large_intestine(12)|lung(12)|skin(1)|stomach(2)|urinary_tract(2)	31	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)				Almotriptan(DB00918)|Cimetidine(DB00501)|Clozapine(DB00363)|Dapsone(DB00250)|Dasatinib(DB01254)|Olanzapine(DB00334)|Tamoxifen(DB00675)|Vandetanib(DB05294)|Voriconazole(DB00582)	GGAGAAAAAGCGCAAATGGTA	0.328													C|||	3	0.000599042	0	0	5008	,	,		18812	0		0	False		,,,				2504	0.0031					ENST00000367755.4																			0				endometrium(1)|kidney(1)|large_intestine(12)|lung(12)|skin(1)|stomach(2)|urinary_tract(2)	31						c.(1249-1251)Cgc>Tgc		flavin containing monooxygenase 3		C	CYS/ARG,CYS/ARG	0,4406		0,0,2203	134	133	134		1249,1249	0.5	0	1	dbSNP_134	134	2,8598	2.2+/-6.3	0,2,4298	no	missense,missense	FMO3	NM_001002294.2,NM_006894.5	180,180	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	benign,benign	417/533,417/533	171085413	2,13004	2203	4300	6503	SO:0001583	missense	2328				xenobiotic metabolic process	integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity	g.chr1:171085413C>T	BC032016	CCDS1292.1	1q24.3	2013-10-01			ENSG00000007933	ENSG00000007933	2.6.1.16		3771	protein-coding gene	gene with protein product		136132				8486388, 9417913	Standard	NM_001002294		Approved		uc001ghh.3	P31513	OTTHUMG00000035505	ENST00000367755.4:c.1249C>T	1.37:g.171085413C>T	ENSP00000356729:p.Arg417Cys					FMO3_ENST00000538429.1_Missense_Mutation_p.R354C|FMO3_ENST00000542847.1_Missense_Mutation_p.R397C|FMO3_ENST00000392085.2_Missense_Mutation_p.R417C	p.R417C	NM_001002294.2	NP_001002294.1	P31513	FMO3_HUMAN			8	1360	+	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)		417					B2R816|Q14854|Q8N5N5	Missense_Mutation	SNP	ENST00000367755.4	37	c.1249C>T	CCDS1292.1	.	.	.	.	.	.	.	.	.	.	C	3.924	-0.017629	0.07681	0.0	2.33E-4	ENSG00000007933	ENST00000367755;ENST00000392085;ENST00000542847;ENST00000538429	T;T;T;T	0.58652	0.32;0.32;0.32;0.32	4.71	0.484	0.16825	.	1.116300	0.06681	N	0.767918	T	0.35248	0.0925	L	0.45137	1.4	0.09310	N	1	P;P;P	0.50943	0.94;0.901;0.6	B;P;P	0.49140	0.398;0.594;0.601	T	0.18840	-1.0324	10	0.52906	T	0.07	-0.3399	3.8448	0.08930	0.3761:0.3755:0.0:0.2484	.	354;397;417	F5H261;F5GZZ8;P31513	.;.;FMO3_HUMAN	C	417;417;397;354	ENSP00000356729:R417C;ENSP00000375935:R417C;ENSP00000444073:R397C;ENSP00000439500:R354C	ENSP00000356729:R417C	R	+	1	0	FMO3	169352037	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-0.251000	0.08818	0.174000	0.19809	-0.147000	0.13772	CGC		0.328	FMO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086219.1	NM_006894		30	82	0	0	0	1	0	30	82					T	171085413	C	T	171085413	3	4	435	1	0	0	0	0	1	0	0	0	5956	768	27	1	1275	1	FMO3	1	171085413	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	1407818	171085413	78165208	713	21638											
FMO2	2327	broad.mit.edu	37	chr1	171174642	171174642	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agtagagaataatatggtctCactgtataaatacatattcc	16	13	6	6	0	1	1	1	0	1	1	3	2	2	1	1	1	1	2	1	1	9	8			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:171174642C>T	ENST00000209929.7	+	7	1210	c.1052C>T	c.(1051-1053)tCa>tTa	p.S351L	RP1-127D3.4_ENST00000445909.1_RNA|FMO2_ENST00000529935.1_3'UTR|RP1-127D3.4_ENST00000445290.1_RNA|FMO2_ENST00000441535.1_Missense_Mutation_p.S351L|RP1-127D3.4_ENST00000422841.1_RNA			P31512	FMO4_HUMAN	flavin containing monooxygenase 2 (non-functional)	350					drug catabolic process (GO:0042737)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	flavin adenine dinucleotide binding (GO:0050660)|N,N-dimethylaniline monooxygenase activity (GO:0004499)|NADP binding (GO:0050661)			endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1)	22	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					AATATGGTCTCACTGTATAAA	0.428																																						ENST00000441535.1																			0				endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1)	22						c.(1051-1053)tCa>tTa		flavin containing monooxygenase 2 (non-functional)							90	86	87					1																	171174642		2203	4300	6503	SO:0001583	missense	2327				drug metabolic process|NADPH oxidation|organic acid metabolic process|toxin metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|host cell microsome|integral to membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding	g.chr1:171174642C>T	BC005894	CCDS1293.1	1q24.3	2011-08-04	2006-07-17		ENSG00000094963	ENSG00000094963			3770	protein-coding gene	gene with protein product		603955	"flavin containing monooxygenase 2"			1417778, 9804831	Standard	XR_426768		Approved		uc001ghk.1	Q99518	OTTHUMG00000035504	ENST00000209929.7:c.1052C>T	1.37:g.171174642C>T	ENSP00000209929:p.Ser351Leu					RP1-127D3.4_ENST00000422841.1_RNA|FMO2_ENST00000209929.7_Missense_Mutation_p.S351L|FMO2_ENST00000529935.1_3'UTR|RP1-127D3.4_ENST00000445909.1_RNA|RP1-45C12.1_ENST00000455124.1_RNA|RP1-127D3.4_ENST00000445290.1_RNA	p.S351L	NM_001460.2	NP_001451.1	Q99518	FMO2_HUMAN			7	1169	+	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)		351					Q53XR0	Missense_Mutation	SNP	ENST00000209929.7	37	c.1052C>T	CCDS1293.1	.	.	.	.	.	.	.	.	.	.	C	11.48	1.650264	0.29336	.	.	ENSG00000094963	ENST00000209929;ENST00000441535	T;T	0.58210	0.35;0.35	5.85	2.69	0.31865	.	0.237789	0.44097	D	0.000490	T	0.31104	0.0786	M	0.74881	2.28	0.09310	N	1	B	0.06786	0.001	B	0.15870	0.014	T	0.32161	-0.9917	10	0.34782	T	0.22	-6.5803	10.2116	0.43145	0.1326:0.7742:0.0:0.0932	.	351	Q99518	FMO2_HUMAN	L	351	ENSP00000209929:S351L;ENSP00000405905:S351L	ENSP00000209929:S351L	S	+	2	0	FMO2	169441266	0.780000	0.28664	0.665000	0.29768	0.569000	0.35902	1.570000	0.36439	0.829000	0.34733	0.655000	0.94253	TCA		0.428	FMO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086216.2	NM_001460		15	26	0	0	0	1	0	15	26					T	171174642	C	T	171174642	3	4	435	1	0	0	0	0	1	0	0	0	5955	838	29	3	1074	3	FMO2	1	171174642	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	89229	171174642	78075979	714	21639											
FMO1	2326	broad.mit.edu	37	chr1	171251207	171251207	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aggccaagcataaaagaggtAaaggaaaactctgtcatatt	18	8	9	6	0	2	1	1	0	1	1	2	2	2	2	1	3	2	2	1	3	8	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:171251207A>G	ENST00000354841.4	+	6	1049	c.918A>G	c.(916-918)gtA>gtG	p.V306V	FMO1_ENST00000469112.1_3'UTR|FMO1_ENST00000402921.2_Silent_p.V243V|FMO1_ENST00000367750.3_Silent_p.V306V	NM_001282692.1	NP_001269621.1	Q01740	FMO1_HUMAN	flavin containing monooxygenase 1	306					NADPH oxidation (GO:0070995)|organic acid metabolic process (GO:0006082)|small molecule metabolic process (GO:0044281)|toxin metabolic process (GO:0009404)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum lumen (GO:0005788)|integral component of membrane (GO:0016021)	flavin adenine dinucleotide binding (GO:0050660)|monooxygenase activity (GO:0004497)|N,N-dimethylaniline monooxygenase activity (GO:0004499)|NADP binding (GO:0050661)			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(2)|skin(2)	27	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)				Cevimeline(DB00185)|Cimetidine(DB00501)|Lorcaserin(DB04871)|Tamoxifen(DB00675)|Vandetanib(DB05294)|Voriconazole(DB00582)	TAAAAGAGGTAAAGGAAAACT	0.408																																						ENST00000354841.4																			0				NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(2)|skin(2)	27						c.(916-918)gtA>gtG		flavin containing monooxygenase 1							106	98	101					1																	171251207		2203	4300	6503	SO:0001819	synonymous_variant	2326				NADPH oxidation|organic acid metabolic process|toxin metabolic process|xenobiotic metabolic process	endoplasmic reticulum lumen|integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding	g.chr1:171251207A>G	M64082	CCDS1294.1, CCDS60351.1	1q24.3	2011-08-04			ENSG00000010932	ENSG00000010932	1.14.13.8		3769	protein-coding gene	gene with protein product		136130					Standard	XM_005245037		Approved		uc001ghl.3	Q01740	OTTHUMG00000035502	ENST00000354841.4:c.918A>G	1.37:g.171251207A>G						FMO1_ENST00000367750.3_Silent_p.V306V|FMO1_ENST00000469112.1_3'UTR|FMO1_ENST00000402921.2_Silent_p.V243V	p.V306V			Q01740	FMO1_HUMAN			6	1049	+	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)		306					A8K248|B7Z3P4|Q5QPT2|Q9UJC2	Silent	SNP	ENST00000354841.4	37	c.918A>G	CCDS1294.1																																																																																				0.408	FMO1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086212.1	NM_002021		28	34	0	0	0	1	0	28	34					G	171251207	A	G	171251207	2	3	435	1	0	0	0	0	0	0	0	1	5954	349	13	4		4	FMO1	1	171251207	Silent	SNP	A	TCGA-XK-AAIW-01A-11D-A41K-08	76565	171251207	77999414	715	21640											
BAT2L2	23215	broad.mit.edu	37	chr1	171556249	171556249	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcccccattacagcatacCactccccaagcacaggctca	12	5	5	19	0	1	0	1	0	0	0	2	0	2	0	5	1	5	3	5	1	3	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:171556249C>T	ENST00000338920.4	+	31	8088	c.7851C>T	c.(7849-7851)acC>acT	p.T2617T	PRRC2C_ENST00000367742.3_Silent_p.T2619T|PRRC2C_ENST00000392078.3_Silent_p.T2619T|PRRC2C_ENST00000426496.2_Silent_p.T2552T	NM_015172.3	NP_055987.2	Q9Y520	PRC2C_HUMAN	proline-rich coiled-coil 2C	2617	Gln-rich.				hematopoietic progenitor cell differentiation (GO:0002244)	membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)										TACAGCATACCACTCCCCAAG	0.488																																						ENST00000367742.3																			0											c.(7855-7857)acC>acT		proline-rich coiled-coil 2C							83	70	75					1																	171556249		2203	4300	6503	SO:0001819	synonymous_variant	23215						protein C-terminus binding	g.chr1:171556249C>T	AL096857	CCDS1296.2	1q24.3	2012-07-18	2010-12-09	2010-12-09	ENSG00000117523	ENSG00000117523			24903	protein-coding gene	gene with protein product			"BAT2 domain containing 1", "HLA-B associated transcript 2-like 2"	BAT2D1, BAT2L2		10470851, 12443540	Standard	NM_015172		Approved	KIAA1096, XTP2	uc010pmg.2	Q9Y520	OTTHUMG00000034665	ENST00000338920.4:c.7851C>T	1.37:g.171556249C>T						PRRC2C_ENST00000338920.4_Silent_p.T2617T|PRRC2C_ENST00000426496.2_Silent_p.T2552T|PRRC2C_ENST00000392078.3_Silent_p.T2619T	p.T2619T			Q9Y520	PRC2C_HUMAN			31	8099	+			2617			Gln-rich.		Q05DM8|Q49A39|Q6PD54|Q9H2N2|Q9HA05|Q9NSM8|Q9NXL3|Q9UF29|Q9UPQ6	Silent	SNP	ENST00000338920.4	37	c.7857C>T	CCDS1296.2	.	.	.	.	.	.	.	.	.	.	C	7.698	0.692568	0.15039	.	.	ENSG00000117523	ENST00000495585	.	.	.	5.34	-5.44	0.02624	.	.	.	.	.	T	0.10508	0.0257	.	.	.	0.32112	N	0.589115	.	.	.	.	.	.	T	0.18461	-1.0336	4	.	.	.	.	3.1254	0.06406	0.4745:0.2352:0.1668:0.1235	.	.	.	.	L	1100	.	.	P	+	2	0	PRRC2C	169822873	0.006000	0.16342	0.002000	0.10522	0.941000	0.58515	-1.663000	0.01968	-0.832000	0.04251	0.460000	0.39030	CCA		0.488	PRRC2C-010	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000314826.4	NM_015172		5	8	0	0	0	1	0	5	8					T	171556249	C	T	171556249	2	4	435	1	0	0	0	0	0	0	0	1	1321	581	21	3		3	BAT2L2	1	171556249	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	305042	171556249	77694372	716	21641											
MYOC	4653	broad.mit.edu	37	chr1	171605301	171605301	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acagatgatgaaggcattggCgactgactgcttacggatgt	11	10	13	7	2	0	4	0	3	0	1	0	6	0	5	0	3	2	2	0	3	2	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:171605301C>T	ENST00000037502.6	-	3	1350	c.1279G>A	c.(1279-1281)Gcc>Acc	p.A427T		NM_000261.1	NP_000252.1	Q99972	MYOC_HUMAN	myocilin, trabecular meshwork inducible glucocorticoid response	427	Olfactomedin-like. {ECO:0000255|PROSITE- ProRule:PRU00446}.		A -> T (in GLC1A). {ECO:0000269|PubMed:12189160}.		bone development (GO:0060348)|clustering of voltage-gated sodium channels (GO:0045162)|ERBB2-ERBB3 signaling pathway (GO:0038133)|myelination in peripheral nervous system (GO:0022011)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of stress fiber assembly (GO:0051497)|neuron projection development (GO:0031175)|non-canonical Wnt signaling pathway via JNK cascade (GO:0038031)|osteoblast differentiation (GO:0001649)|positive regulation of cell migration (GO:0030335)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of mitochondrial depolarization (GO:0051901)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|regulation of MAPK cascade (GO:0043408)|skeletal muscle hypertrophy (GO:0014734)	cilium (GO:0005929)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrial outer membrane (GO:0005741)|node of Ranvier (GO:0033268)|proteinaceous extracellular matrix (GO:0005578)	fibronectin binding (GO:0001968)|frizzled binding (GO:0005109)|myosin light chain binding (GO:0032027)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|prostate(1)|urinary_tract(2)	28	all_cancers(6;5.47e-10)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181)					AAGGCATTGGCGACTGACTGC	0.512																																						ENST00000037502.5																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|prostate(1)|urinary_tract(2)	28	GRCh37	CM021646	MYOC	M		c.(1279-1281)Gcc>Acc		myocilin, trabecular meshwork inducible glucocorticoid response							291	248	262					1																	171605301		2203	4300	6503	SO:0001583	missense	4653				anatomical structure morphogenesis	cilium|extracellular space|rough endoplasmic reticulum	structural molecule activity	g.chr1:171605301C>T	BC029261	CCDS1297.1	1q23-q24	2008-02-05			ENSG00000034971	ENSG00000034971			7610	protein-coding gene	gene with protein product		601652		GLC1A		9169133, 9005853	Standard	NM_000261		Approved	TIGR, JOAG1	uc001ghu.3	Q99972	OTTHUMG00000034789	ENST00000037502.6:c.1279G>A	1.37:g.171605301C>T	ENSP00000037502:p.Ala427Thr						p.A427T	NM_000261.1	NP_000252.1	Q99972	MYOC_HUMAN			3	1338	-	all_cancers(6;5.47e-10)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181)		427		A -> T (in GLC1A).	Olfactomedin-like.		B2RD84|O00620|Q7Z6Q9	Missense_Mutation	SNP	ENST00000037502.6	37	c.1279G>A	CCDS1297.1	.	.	.	.	.	.	.	.	.	.	C	19.87	3.907578	0.72868	.	.	ENSG00000034971	ENST00000037502;ENST00000357746;ENST00000536591	D	0.90504	-2.68	5.07	5.07	0.68467	Olfactomedin-like (3);	0.000000	0.85682	D	0.000000	D	0.93281	0.7859	L	0.54908	1.71	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.93980	0.7257	10	0.87932	D	0	.	17.3777	0.87397	0.0:1.0:0.0:0.0	.	369;427	B4DV44;Q99972	.;MYOC_HUMAN	T	427;380;360	ENSP00000037502:A427T	ENSP00000037502:A427T	A	-	1	0	MYOC	169871924	1.000000	0.71417	0.948000	0.38648	0.186000	0.23388	7.734000	0.84928	2.508000	0.84585	0.555000	0.69702	GCC		0.512	MYOC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084178.2	NM_000261		48	66	0	0	0	1	0	48	66					T	171605301	C	T	171605301	3	4	435	1	0	0	0	0	1	0	0	0	10086	768	27	1	239	1	MYOC	1	171605301	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	49052	171605301	77645320	717	21642											
DNM3	26052	broad.mit.edu	37	chr1	171956817	171956817	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atatgccgagtttctacattGcaaaggaaagaaatttacag	16	11	8	6	1	1	1	0	0	1	1	1	3	1	2	1	1	4	2	1	1	6	6			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:171956817G>A	ENST00000355305.5	+	3	414	c.257G>A	c.(256-258)tGc>tAc	p.C86Y	DNM3_ENST00000358155.4_Missense_Mutation_p.C86Y|DNM3_ENST00000367733.2_Missense_Mutation_p.C86Y|DNM3_ENST00000520906.1_Missense_Mutation_p.C86Y|DNM3_ENST00000367731.1_Missense_Mutation_p.C86Y			Q9UQ16	DYN3_HUMAN	dynamin 3	86	Dynamin-type G.				endocytosis (GO:0006897)|filopodium assembly (GO:0046847)|GTP catabolic process (GO:0006184)|synapse assembly (GO:0007416)	dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|perinuclear region of cytoplasm (GO:0048471)|postsynaptic density (GO:0014069)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(9)|lung(16)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						TTTCTACATTGCAAAGGAAAG	0.323																																						ENST00000358155.4																			0				NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(9)|lung(16)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						c.(256-258)tGc>tAc		dynamin 3							119	136	131					1																	171956817		1820	4083	5903	SO:0001583	missense	26052				endocytosis|filopodium assembly|synapse assembly	dendritic spine|microtubule|perinuclear region of cytoplasm|postsynaptic density	GTP binding|GTPase activity|protein binding	g.chr1:171956817G>A	AL136712	CCDS44276.1, CCDS60356.1	1q24.1	2013-01-10			ENSG00000197959	ENSG00000197959		"Pleckstrin homology (PH) domain containing"	29125	protein-coding gene	gene with protein product	"Dyna III"	611445				10048485	Standard	NM_015569		Approved	KIAA0820	uc001gie.4	Q9UQ16	OTTHUMG00000034913	ENST00000355305.5:c.257G>A	1.37:g.171956817G>A	ENSP00000347457:p.Cys86Tyr					DNM3_ENST00000367731.1_Missense_Mutation_p.C86Y|DNM3_ENST00000520906.1_Missense_Mutation_p.C86Y|DNM3_ENST00000367733.2_Missense_Mutation_p.C86Y|DNM3_ENST00000355305.5_Missense_Mutation_p.C86Y	p.C86Y	NM_015569.3	NP_056384.2	Q9UQ16	DYN3_HUMAN			3	433	+			86					A9Z1Y1|O14982|O95555|Q1MTM8|Q5W129|Q6P2G1|Q9H0P3|Q9H548|Q9NQ68|Q9NQN6	Missense_Mutation	SNP	ENST00000355305.5	37	c.257G>A		.	.	.	.	.	.	.	.	.	.	G	23.9	4.466275	0.84425	.	.	ENSG00000197959	ENST00000359070;ENST00000358155;ENST00000367733;ENST00000355305;ENST00000367731;ENST00000520906	D;D;D;D;D	0.95307	-3.67;-3.67;-3.67;-3.67;-3.67	5.16	5.16	0.70880	.	0.000000	0.85682	D	0.000000	D	0.95382	0.8501	L	0.59436	1.845	0.80722	D	1	D;D;D;D	0.63046	0.986;0.992;0.983;0.964	P;P;P;P	0.62298	0.9;0.884;0.836;0.786	D	0.94859	0.8020	10	0.45353	T	0.12	.	17.2367	0.87000	0.0:0.0:1.0:0.0	.	86;86;86;86	E5RHK8;Q9UQ16-2;Q9UQ16-3;Q6P2G1	.;.;.;.	Y	86	ENSP00000350876:C86Y;ENSP00000356707:C86Y;ENSP00000347457:C86Y;ENSP00000356705:C86Y;ENSP00000429701:C86Y	ENSP00000347457:C86Y	C	+	2	0	DNM3	170223440	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.731000	0.98807	2.397000	0.81536	0.655000	0.94253	TGC		0.323	DNM3-003	NOVEL	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000084531.1	NM_015569		24	72	0	0	0	1	0	24	72					A	171956817	G	A	171956817	3	1	435	1	0	0	0	0	1	0	0	0	4673	1319	46	3	267	3	DNM3	1	171956817	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	351516	171956817	77293804	718	21643											
PIGC	5279	broad.mit.edu	37	chr1	172411474	172411474	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aatgagatcaaacaaaacatAcccaatcagtgaagaagcca	21	5	6	9	0	2	3	2	2	0	2	2	4	2	3	2	0	4	0	2	0	8	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:172411474A>G	ENST00000367728.1	-	1	1752	c.289T>C	c.(289-291)Tat>Cat	p.Y97H	PIGC_ENST00000258324.1_Missense_Mutation_p.Y97H|C1orf105_ENST00000367727.4_Intron|PIGC_ENST00000344529.4_Missense_Mutation_p.Y97H|PIGC_ENST00000484368.1_Intron			Q92535	PIGC_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class C	97					C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|GPI anchor biosynthetic process (GO:0006506)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)	endoplasmic reticulum membrane (GO:0005789)|glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex (GO:0000506)|integral component of membrane (GO:0016021)	catalytic activity (GO:0003824)|phosphatidylinositol N-acetylglucosaminyltransferase activity (GO:0017176)			breast(1)|endometrium(1)|kidney(1)|lung(1)	4						AACAAAACATACCCAATCAGT	0.493																																						ENST00000367728.1																			0				breast(1)|endometrium(1)|kidney(1)|lung(1)	4						c.(289-291)Tat>Cat		phosphatidylinositol glycan anchor biosynthesis, class C							54	58	57					1																	172411474		2203	4300	6503	SO:0001583	missense	5279				C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex|integral to membrane	phosphatidylinositol N-acetylglucosaminyltransferase activity	g.chr1:172411474A>G	BC006539	CCDS1302.1	1q23-q25	2013-02-26	2006-06-28		ENSG00000135845	ENSG00000135845	2.4.1.198	"Phosphatidylinositol glycan anchor biosynthesis"	8960	protein-coding gene	gene with protein product	"phosphatidylinositol N-acetylglucosaminyltransferase"	601730	"phosphatidylinositol glycan, class C"			8806613, 9325057	Standard	NM_153747		Approved		uc001gio.3	Q92535	OTTHUMG00000034751	ENST00000367728.1:c.289T>C	1.37:g.172411474A>G	ENSP00000356702:p.Tyr97His					PIGC_ENST00000258324.1_Missense_Mutation_p.Y97H|PIGC_ENST00000344529.4_Missense_Mutation_p.Y97H|PIGC_ENST00000484368.1_Intron|C1orf105_ENST00000367727.4_Intron	p.Y97H			Q92535	PIGC_HUMAN			1	1752	-			97					O14491	Missense_Mutation	SNP	ENST00000367728.1	37	c.289T>C	CCDS1302.1	.	.	.	.	.	.	.	.	.	.	A	24.2	4.506094	0.85282	.	.	ENSG00000135845	ENST00000344529;ENST00000367728;ENST00000258324	T;T;T	0.46063	0.88;0.88;0.88	5.2	5.2	0.72013	.	0.000000	0.85682	D	0.000000	T	0.57621	0.2066	M	0.80183	2.485	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.62224	-0.6899	10	0.46703	T	0.11	-0.5649	13.8968	0.63778	1.0:0.0:0.0:0.0	.	97	Q92535	PIGC_HUMAN	H	97	ENSP00000356701:Y97H;ENSP00000356702:Y97H;ENSP00000258324:Y97H	ENSP00000258324:Y97H	Y	-	1	0	PIGC	170678097	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.478000	0.73596	1.970000	0.57323	0.533000	0.62120	TAT		0.493	PIGC-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084068.1	NM_153747		11	24	0	0	0	1	0	11	24					G	172411474	A	G	172411474	3	3	435	1	0	0	0	0	1	0	0	0	11886	391	14	4	608	4	PIGC	1	172411474	Missense_Mutation	SNP	A	TCGA-XK-AAIW-01A-11D-A41K-08	454657	172411474	76839147	719	21644											
SERPINC1	462	broad.mit.edu	37	chr1	173876636	173876636	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gagacatagaggtcatctcgGccttctgcaacaatacctgg	11	9	10	11	1	3	2	1	0	2	2	4	3	3	2	2	3	3	1	2	3	4	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:173876636G>A	ENST00000367698.3	-	6	1288	c.1170C>T	c.(1168-1170)ggC>ggT	p.G390G		NM_000488.3	NP_000479.1	P01008	ANT3_HUMAN	serpin peptidase inhibitor, clade C (antithrombin), member 1	390					blood coagulation (GO:0007596)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of inflammatory response (GO:0050728)|regulation of blood coagulation, intrinsic pathway (GO:2000266)|regulation of proteolysis (GO:0030162)|response to nutrient (GO:0007584)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|protease binding (GO:0002020)|serine-type endopeptidase inhibitor activity (GO:0004867)			NS(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(15)|ovary(1)	25					Ardeparin(DB00407)|Dalteparin(DB06779)|Enoxaparin(DB01225)|Fondaparinux sodium(DB00569)|Heparin(DB01109)|Nadroparin(DB08813)|Sulodexide(DB06271)|Tinzaparin(DB06822)	GGTCATCTCGGCCTTCTGCAA	0.463																																						ENST00000367698.3																			0				NS(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(15)|ovary(1)	25						c.(1168-1170)ggC>ggT		serpin peptidase inhibitor, clade C (antithrombin), member 1	Enoxaparin(DB01225)|Fondaparinux sodium(DB00569)|Heparin(DB01109)						225	208	214					1																	173876636		2203	4300	6503	SO:0001819	synonymous_variant	462				blood coagulation|regulation of proteolysis	extracellular space|plasma membrane	heparin binding|protease binding|serine-type endopeptidase inhibitor activity	g.chr1:173876636G>A	X68793	CCDS1313.1	1q25.1	2014-02-18	2005-08-18		ENSG00000117601	ENSG00000117601		"Serine (or cysteine) peptidase inhibitors"	775	protein-coding gene	gene with protein product	"antithrombin III", "signal peptide antithrombin part 1", "coding sequence signal peptide antithrombin part 1", "antithrombin (aa 375-432)"	107300	"serine (or cysteine) proteinase inhibitor, clade C (antithrombin), member 1"	AT3		3979120, 24172014	Standard	NM_000488		Approved	ATIII, MGC22579	uc001gjt.3	P01008	OTTHUMG00000037276	ENST00000367698.3:c.1170C>T	1.37:g.173876636G>A							p.G390G	NM_000488.3	NP_000479.1	P01008	ANT3_HUMAN			6	1288	-			390					B2R6P0|P78439|P78447|Q13815|Q5TC78|Q7KZ43|Q7KZ97|Q9UC78	Silent	SNP	ENST00000367698.3	37	c.1170C>T	CCDS1313.1																																																																																				0.463	SERPINC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090734.1	NM_000488		12	137	0	0	0	1	0	12	137					A	173876636	G	A	173876636	2	1	435	1	0	0	0	0	0	0	0	1	14109	1190	42	3		3	SERPINC1	1	173876636	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	1465162	173876636	75373985	720	21645											
SERPINC1	462	broad.mit.edu	37	chr1	173878765	173878765	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgctccttcaaactgaagcCgtcctcaatgcggaagcggg	9	8	11	13	3	2	1	2	1	0	0	4	2	4	2	3	2	5	1	3	2	4	1	rs199469509		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:173878765C>T	ENST00000367698.3	-	5	1196	c.1078G>A	c.(1078-1080)Ggc>Agc	p.G360S	SERPINC1_ENST00000494024.1_5'Flank	NM_000488.3	NP_000479.1	P01008	ANT3_HUMAN	serpin peptidase inhibitor, clade C (antithrombin), member 1	360					blood coagulation (GO:0007596)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of inflammatory response (GO:0050728)|regulation of blood coagulation, intrinsic pathway (GO:2000266)|regulation of proteolysis (GO:0030162)|response to nutrient (GO:0007584)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|protease binding (GO:0002020)|serine-type endopeptidase inhibitor activity (GO:0004867)	p.G360S(1)		NS(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(15)|ovary(1)	25					Ardeparin(DB00407)|Dalteparin(DB06779)|Enoxaparin(DB01225)|Fondaparinux sodium(DB00569)|Heparin(DB01109)|Nadroparin(DB08813)|Sulodexide(DB06271)|Tinzaparin(DB06822)	AAACTGAAGCCGTCCTCAATG	0.542																																						ENST00000367698.3																			1	Substitution - Missense(1)	p.G360S(1)	lung(1)	NS(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(15)|ovary(1)	25						c.(1078-1080)Ggc>Agc		serpin peptidase inhibitor, clade C (antithrombin), member 1	Enoxaparin(DB01225)|Fondaparinux sodium(DB00569)|Heparin(DB01109)						116	116	116					1																	173878765		2203	4300	6503	SO:0001583	missense	462				blood coagulation|regulation of proteolysis	extracellular space|plasma membrane	heparin binding|protease binding|serine-type endopeptidase inhibitor activity	g.chr1:173878765C>T	X68793	CCDS1313.1	1q25.1	2014-02-18	2005-08-18		ENSG00000117601	ENSG00000117601		"Serine (or cysteine) peptidase inhibitors"	775	protein-coding gene	gene with protein product	"antithrombin III", "signal peptide antithrombin part 1", "coding sequence signal peptide antithrombin part 1", "antithrombin (aa 375-432)"	107300	"serine (or cysteine) proteinase inhibitor, clade C (antithrombin), member 1"	AT3		3979120, 24172014	Standard	NM_000488		Approved	ATIII, MGC22579	uc001gjt.3	P01008	OTTHUMG00000037276	ENST00000367698.3:c.1078G>A	1.37:g.173878765C>T	ENSP00000356671:p.Gly360Ser						p.G360S	NM_000488.3	NP_000479.1	P01008	ANT3_HUMAN			5	1196	-			360					B2R6P0|P78439|P78447|Q13815|Q5TC78|Q7KZ43|Q7KZ97|Q9UC78	Missense_Mutation	SNP	ENST00000367698.3	37	c.1078G>A	CCDS1313.1	.	.	.	.	.	.	.	.	.	.	c	6.370	0.436334	0.12104	.	.	ENSG00000117601	ENST00000367698	D	0.82344	-1.6	5.64	-1.51	0.08664	Serpin domain (3);	0.616386	0.19807	N	0.105640	T	0.18130	0.0435	N	0.00661	-1.28	0.23030	N	0.998404	B	0.06786	0.001	B	0.11329	0.006	T	0.44375	-0.9332	10	0.02654	T	1	.	2.9609	0.05891	0.1068:0.3078:0.109:0.4764	.	360	P01008	ANT3_HUMAN	S	360	ENSP00000356671:G360S	ENSP00000356671:G360S	G	-	1	0	SERPINC1	172145388	0.999000	0.42202	0.963000	0.40424	0.963000	0.63663	0.577000	0.23758	-0.507000	0.06549	-0.119000	0.15052	GGC		0.542	SERPINC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090734.1	NM_000488		19	45	0	0	0	1	0	19	45					T	173878765	C	T	173878765	3	4	435	1	0	0	0	0	1	0	0	0	14109	652	23	2	328	2	SERPINC1	1	173878765	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	2129	173878765	75371856	721	21646											
SERPINC1	462	broad.mit.edu	37	chr1	173879931	173879931	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	accagcaccagaacagtgagCtcattgatggcttccgaggg	11	7	12	11	1	1	3	1	2	0	1	2	4	2	3	3	2	3	3	3	2	1	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:173879931C>A	ENST00000367698.3	-	4	841	c.723G>T	c.(721-723)gaG>gaT	p.E241D	SERPINC1_ENST00000494024.1_5'Flank	NM_000488.3	NP_000479.1	P01008	ANT3_HUMAN	serpin peptidase inhibitor, clade C (antithrombin), member 1	241					blood coagulation (GO:0007596)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of inflammatory response (GO:0050728)|regulation of blood coagulation, intrinsic pathway (GO:2000266)|regulation of proteolysis (GO:0030162)|response to nutrient (GO:0007584)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|protease binding (GO:0002020)|serine-type endopeptidase inhibitor activity (GO:0004867)			NS(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(15)|ovary(1)	25					Ardeparin(DB00407)|Dalteparin(DB06779)|Enoxaparin(DB01225)|Fondaparinux sodium(DB00569)|Heparin(DB01109)|Nadroparin(DB08813)|Sulodexide(DB06271)|Tinzaparin(DB06822)	GAACAGTGAGCTCATTGATGG	0.512																																						ENST00000367698.3																			0				NS(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(15)|ovary(1)	25						c.(721-723)gaG>gaT		serpin peptidase inhibitor, clade C (antithrombin), member 1	Enoxaparin(DB01225)|Fondaparinux sodium(DB00569)|Heparin(DB01109)						166	150	155					1																	173879931		2203	4300	6503	SO:0001583	missense	462				blood coagulation|regulation of proteolysis	extracellular space|plasma membrane	heparin binding|protease binding|serine-type endopeptidase inhibitor activity	g.chr1:173879931C>A	X68793	CCDS1313.1	1q25.1	2014-02-18	2005-08-18		ENSG00000117601	ENSG00000117601		"Serine (or cysteine) peptidase inhibitors"	775	protein-coding gene	gene with protein product	"antithrombin III", "signal peptide antithrombin part 1", "coding sequence signal peptide antithrombin part 1", "antithrombin (aa 375-432)"	107300	"serine (or cysteine) proteinase inhibitor, clade C (antithrombin), member 1"	AT3		3979120, 24172014	Standard	NM_000488		Approved	ATIII, MGC22579	uc001gjt.3	P01008	OTTHUMG00000037276	ENST00000367698.3:c.723G>T	1.37:g.173879931C>A	ENSP00000356671:p.Glu241Asp						p.E241D	NM_000488.3	NP_000479.1	P01008	ANT3_HUMAN			4	841	-			241					B2R6P0|P78439|P78447|Q13815|Q5TC78|Q7KZ43|Q7KZ97|Q9UC78	Missense_Mutation	SNP	ENST00000367698.3	37	c.723G>T	CCDS1313.1	.	.	.	.	.	.	.	.	.	.	C	2.481	-0.319694	0.05386	.	.	ENSG00000117601	ENST00000367698	D	0.84516	-1.86	5.72	1.56	0.23342	Serpin domain (3);	0.499140	0.23556	N	0.046909	T	0.47060	0.1425	N	0.13371	0.34	0.23411	N	0.997739	B	0.02656	0.0	B	0.04013	0.001	T	0.35525	-0.9785	10	0.33141	T	0.24	.	2.0641	0.03599	0.1903:0.4691:0.1106:0.23	.	241	P01008	ANT3_HUMAN	D	241	ENSP00000356671:E241D	ENSP00000356671:E241D	E	-	3	2	SERPINC1	172146554	0.000000	0.05858	0.914000	0.36105	0.343000	0.28985	-0.436000	0.06922	0.783000	0.33636	-0.145000	0.13849	GAG		0.512	SERPINC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090734.1	NM_000488		39	40	1	0	6.2361e-21	1	6.91678e-21	39	40					A	173879931	C	A	173879931	3	1	435	1	0	0	0	0	1	0	0	0	14109	796	28	5	687	5	SERPINC1	1	173879931	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	1166	173879931	75370690	722	21647											
RC3H1	149041	broad.mit.edu	37	chr1	173910517	173910517	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtccagagaacactggtttTcctttgaaagagaaggaaat	14	11	10	6	0	0	3	0	1	0	2	2	6	2	4	2	2	1	1	2	2	4	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:173910517T>C	ENST00000367696.2	-	19	3488	c.3137A>G	c.(3136-3138)gAa>gGa	p.E1046G	RC3H1_ENST00000258349.4_Splice_Site_p.E1046G|RC3H1_ENST00000367694.2_Splice_Site_p.E1037G			Q5TC82	RC3H1_HUMAN	ring finger and CCCH-type domains 1	1046					B cell homeostasis (GO:0001782)|cytoplasmic mRNA processing body assembly (GO:0033962)|lymph node development (GO:0048535)|negative regulation of activated T cell proliferation (GO:0046007)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of germinal center formation (GO:0002635)|negative regulation of T-helper cell differentiation (GO:0045623)|nuclear-transcribed mRNA catabolic process (GO:0000956)|positive regulation of NIK/NF-kappaB signaling (GO:1901224)|posttranscriptional regulation of gene expression (GO:0010608)|protein ubiquitination (GO:0016567)|regulation of germinal center formation (GO:0002634)|regulation of mRNA stability (GO:0043488)|regulation of T cell receptor signaling pathway (GO:0050856)|spleen development (GO:0048536)|T cell homeostasis (GO:0043029)|T cell proliferation (GO:0042098)|T follicular helper cell differentiation (GO:0061470)	cytoplasmic mRNA processing body (GO:0000932)|cytoplasmic stress granule (GO:0010494)	mRNA 3'-UTR binding (GO:0003730)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	50						ACACTGGTTTTCCTTTGAAAG	0.363																																						ENST00000367696.2																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	50						c.e19-1		ring finger and CCCH-type domains 1							211	180	191					1																	173910517		2203	4300	6503	SO:0001630	splice_region_variant	149041				cytoplasmic mRNA processing body assembly|negative regulation of activated T cell proliferation|negative regulation of B cell proliferation|negative regulation of germinal center formation|negative regulation of T-helper cell differentiation|nuclear-transcribed mRNA catabolic process|regulation of mRNA stability|regulation of T cell receptor signaling pathway	cytoplasmic mRNA processing body|stress granule	mRNA 3'-UTR binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr1:173910517T>C	AK093501	CCDS30940.1, CCDS72987.1	1q25.1	2013-01-18	2010-09-15		ENSG00000135870	ENSG00000135870		"RING-type (C3HC4) zinc fingers", "Zinc fingers, CCCH-type domain containing"	29434	protein-coding gene	gene with protein product	"KIAA2025 protein"	609424	"ring finger and CCCH-type zinc finger domains 1"			15917799	Standard	XM_005244918		Approved	KIAA2025, roquin, RP5-1198E17.5, RNF198	uc001gju.4	Q5TC82	OTTHUMG00000037275	ENST00000367696.2:c.3136-1A>G	1.37:g.173910517T>C						RC3H1_ENST00000367694.2_Splice_Site_p.E1037_splice|RC3H1_ENST00000258349.4_Splice_Site_p.E1046_splice	p.E1046_splice			Q5TC82	RC3H1_HUMAN			19	3488	-			1046					B3KVK1|Q5W180|Q5W181|Q8IVE6|Q8N9V1	Splice_Site	SNP	ENST00000367696.2	37	c.3135_splice	CCDS30940.1	.	.	.	.	.	.	.	.	.	.	T	17.44	3.390807	0.62066	.	.	ENSG00000135870	ENST00000367696;ENST00000258349;ENST00000367694	T;T;T	0.56103	0.49;0.49;0.48	5.94	5.94	0.96194	.	0.048001	0.85682	D	0.000000	T	0.52500	0.1738	L	0.27053	0.805	0.80722	D	1	D;D;D;D	0.89917	0.999;0.999;1.0;0.999	D;D;D;D	0.80764	0.986;0.986;0.994;0.986	T	0.57260	-0.7842	10	0.48119	T	0.1	-18.8136	16.3985	0.83631	0.0:0.0:0.0:1.0	.	1046;1037;1037;1046	B9EGU6;B7ZMB3;Q5TC82-2;Q5TC82	.;.;.;RC3H1_HUMAN	G	1046;1046;1037	ENSP00000356669:E1046G;ENSP00000258349:E1046G;ENSP00000356667:E1037G	ENSP00000258349:E1046G	E	-	2	0	RC3H1	172177140	1.000000	0.71417	1.000000	0.80357	0.857000	0.48899	6.378000	0.73150	2.274000	0.75844	0.519000	0.50382	GAA		0.363	RC3H1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090733.2	NM_172071	Missense_Mutation	8	57	0	0	0	1	0	8	57					C	173910517	T	C	173910517	5	2	435	1	0	0	0	0	0	0	1	0	13166	1797	62	4	272	4	RC3H1	1	173910517	Splice_Site	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	30586	173910517	75340104	723	21648											
RABGAP1L	9910	broad.mit.edu	37	chr1	174190300	174190300	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aattttggatccgtctaacaCaggtactgtattgaattctt	11	16	7	7	1	2	1	0	1	2	0	3	2	3	2	1	2	2	2	1	2	5	8			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:174190300C>T	ENST00000251507.4	+	3	503	c.329C>T	c.(328-330)aCa>aTa	p.T110I	RABGAP1L_ENST00000367689.3_5'UTR|RABGAP1L_ENST00000357444.6_Missense_Mutation_p.T73I	NM_014857.4	NP_055672.3	B7ZAP0	RBG10_HUMAN	RAB GTPase activating protein 1-like	0										NS(1)|breast(2)|endometrium(4)|kidney(5)|large_intestine(7)|lung(21)|ovary(2)|prostate(1)|skin(2)	45						CCGTCTAACACAGGTACTGTA	0.328																																						ENST00000251507.4																			0				NS(1)|breast(2)|endometrium(4)|kidney(5)|large_intestine(7)|lung(21)|ovary(2)|prostate(1)|skin(2)	45						c.(328-330)aCa>aTa		RAB GTPase activating protein 1-like							120	118	119					1																	174190300		2203	4300	6503	SO:0001583	missense	9910				regulation of protein localization	early endosome|Golgi apparatus|nucleus	Rab GTPase activator activity	g.chr1:174190300C>T	AF279778	CCDS1314.1, CCDS41437.1, CCDS55662.1, CCDS58046.1	1q24	2011-11-21			ENSG00000152061	ENSG00000152061			24663	protein-coding gene	gene with protein product		609238				10585558	Standard	NM_014857		Approved	HHL, TBC1D18, KIAA0471, FLJ38519	uc001gjx.3	B7ZAP0	OTTHUMG00000034899	ENST00000251507.4:c.329C>T	1.37:g.174190300C>T	ENSP00000251507:p.Thr110Ile					RABGAP1L_ENST00000367689.3_5'UTR|RABGAP1L_ENST00000357444.6_Missense_Mutation_p.T73I	p.T110I	NM_014857.4	NP_055672.3	Q5R372	RBG1L_HUMAN			3	503	+			110					B7ZAA4	Missense_Mutation	SNP	ENST00000251507.4	37	c.329C>T	CCDS1314.1	.	.	.	.	.	.	.	.	.	.	C	14.88	2.666081	0.47677	.	.	ENSG00000152061	ENST00000357444;ENST00000251507;ENST00000457696;ENST00000367692	T;T;T	0.47177	0.85;3.48;0.9	5.98	5.98	0.97165	.	0.478848	0.24222	N	0.040423	T	0.64170	0.2574	L	0.56769	1.78	0.80722	D	1	D;P;B	0.76494	0.999;0.835;0.347	D;P;B	0.63488	0.915;0.616;0.111	T	0.56456	-0.7976	10	0.31617	T	0.26	.	18.6367	0.91380	0.0:1.0:0.0:0.0	.	110;110;73	B7WPG6;Q5R372;Q5R372-2	.;RBG1L_HUMAN;.	I	73;110;110;110	ENSP00000350027:T73I;ENSP00000251507:T110I;ENSP00000403136:T110I	ENSP00000251507:T110I	T	+	2	0	RABGAP1L	172456923	1.000000	0.71417	1.000000	0.80357	0.891000	0.51852	4.555000	0.60767	2.847000	0.97988	0.591000	0.81541	ACA		0.328	RABGAP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084497.1	NM_001243765		25	56	0	0	0	1	0	25	56					T	174190300	C	T	174190300	3	4	435	1	0	0	0	0	1	0	0	0	12965	478	17	3	335	3	RABGAP1L	1	174190300	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	279783	174190300	75060321	724	21649											
TNN	63923	broad.mit.edu	37	chr1	175105005	175105005	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccagaggcggaacactgggCagctggatttcttcaagcga	10	8	13	10	2	2	1	1	0	1	1	3	4	3	3	1	4	3	2	1	4	2	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:175105005C>T	ENST00000239462.4	+	16	3468	c.3355C>T	c.(3355-3357)Cag>Tag	p.Q1119*		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	1119	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				axonogenesis (GO:0007409)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)	cell surface (GO:0009986)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		GAACACTGGGCAGCTGGATTT	0.522																																						ENST00000239462.4																			0				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156						c.(3355-3357)Cag>Tag		tenascin N							143	143	143					1																	175105005		2203	4300	6503	SO:0001587	stop_gained	63923				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix		g.chr1:175105005C>T	AK127044	CCDS30943.1	1q23-q24	2013-02-11			ENSG00000120332	ENSG00000120332		"Fibrinogen C domain containing", "Fibronectin type III domain containing"	22942	protein-coding gene	gene with protein product							Standard	NM_022093		Approved		uc001gkl.1	Q9UQP3	OTTHUMG00000034882	ENST00000239462.4:c.3355C>T	1.37:g.175105005C>T	ENSP00000239462:p.Gln1119*						p.Q1119*	NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)	16	3468	+		Breast(1374;0.000962)	1119			Fibrinogen C-terminal.		B9EGP3|Q5R360	Nonsense_Mutation	SNP	ENST00000239462.4	37	c.3355C>T	CCDS30943.1	.	.	.	.	.	.	.	.	.	.	C	42	9.309504	0.99132	.	.	ENSG00000120332	ENST00000239462;ENST00000539081	.	.	.	5.65	5.65	0.86999	.	0.315023	0.36134	N	0.002776	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.10377	T	0.69	.	11.0688	0.47991	0.1423:0.7201:0.1376:0.0	.	.	.	.	X	1119;942	.	ENSP00000239462:Q1119X	Q	+	1	0	TNN	173371628	0.910000	0.30920	0.998000	0.56505	0.953000	0.61014	1.825000	0.39081	2.646000	0.89796	0.655000	0.94253	CAG		0.522	TNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084422.1	XM_040527		29	33	0	0	0	1	0	29	33					T	175105005	C	T	175105005	4	4	435	1	0	0	0	0	0	1	0	0	16320	711	25	3	3413	3	TNN	1	175105005	Nonsense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	914705	175105005	74145616	725	21650											
RFWD2	64326	broad.mit.edu	37	chr1	176054920	176054920	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctaaatatatacctgagataCgagacatccttgtagaaaag	17	10	7	7	1	0	3	0	1	0	3	1	5	1	3	2	0	2	1	2	0	9	7			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:176054920C>T	ENST00000367669.3	-	10	1647	c.1133G>A	c.(1132-1134)cGt>cAt	p.R378H	RFWD2_ENST00000308769.8_Missense_Mutation_p.R354H	NM_022457.5	NP_071902.2	Q8NHY2	RFWD2_HUMAN	ring finger and WD repeat domain 2, E3 ubiquitin protein ligase	378					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|response to ionizing radiation (GO:0010212)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|Golgi membrane (GO:0000139)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin protein ligase activity (GO:0061630)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						ACCTGAGATACGAGACATCCT	0.358																																					Ovarian(134;1413 1765 5706 35534 51541)	ENST00000367669.3																			0				endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						c.(1132-1134)cGt>cAt		ring finger and WD repeat domain 2, E3 ubiquitin protein ligase							89	82	85					1																	176054920		2203	4300	6503	SO:0001583	missense	64326				DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest	centrosome|cytosol|focal adhesion|nuclear speck	protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr1:176054920C>T	AK001278	CCDS30944.1, CCDS44279.1	1q25.1-q25.2	2013-01-09	2012-02-23		ENSG00000143207	ENSG00000143207		"WD repeat domain containing", "RING-type (C3HC4) zinc fingers"	17440	protein-coding gene	gene with protein product		608067	"ring finger and WD repeat domain 2"			10395541	Standard	XM_005245447		Approved	FLJ10416, COP1, RNF200	uc001gku.1	Q8NHY2	OTTHUMG00000034986	ENST00000367669.3:c.1133G>A	1.37:g.176054920C>T	ENSP00000356641:p.Arg378His					RFWD2_ENST00000308769.8_Missense_Mutation_p.R354H	p.R378H	NM_022457.5	NP_071902.2	Q8NHY2	RFWD2_HUMAN			10	1647	-			378					E9PKI0|Q504W6|Q6H103|Q9H6L7|X5D9B4	Missense_Mutation	SNP	ENST00000367669.3	37	c.1133G>A	CCDS30944.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.80|14.80	2.642506|2.642506	0.47153|0.47153	.|.	.|.	ENSG00000143207|ENSG00000143207	ENST00000367665;ENST00000367669;ENST00000367666;ENST00000308769|ENST00000459744	T;T;T|.	0.11385|.	2.78;2.78;2.78|.	5.28|5.28	4.37|4.37	0.52481|0.52481	.|.	0.051323|.	0.85682|.	D|.	0.000000|.	T|T	0.36663|0.36663	0.0975|0.0975	N|N	0.08118|0.08118	0|0	0.53688|0.53688	D|D	0.999979|0.999979	B;B;B;B;B|.	0.19331|.	0.003;0.002;0.006;0.035;0.002|.	B;B;B;B;B|.	0.09377|.	0.004;0.0;0.002;0.003;0.0|.	T|T	0.19353|0.19353	-1.0308|-1.0308	10|5	0.41790|.	T|.	0.15|.	-11.774|-11.774	13.3764|13.3764	0.60741|0.60741	0.0:0.9215:0.0:0.0785|0.0:0.9215:0.0:0.0785	.|.	153;138;354;378;378|.	Q8NHY2-3;B1AMD2;Q8NHY2-2;Q8NHY2;Q504W6|.	.;.;.;RFWD2_HUMAN;.|.	H|I	153;378;213;354|98	ENSP00000356641:R378H;ENSP00000356638:R213H;ENSP00000310943:R354H|.	ENSP00000310943:R354H|.	R|V	-|-	2|1	0|0	RFWD2|RFWD2	174321543|174321543	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.953000|0.953000	0.61014|0.61014	3.363000|3.363000	0.52321|0.52321	1.366000|1.366000	0.46076|0.46076	-0.444000|-0.444000	0.05651|0.05651	CGT|GTA		0.358	RFWD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084672.2	NM_022457		56	131	0	0	0	1	0	56	131					T	176054920	C	T	176054920	3	4	435	1	0	0	0	0	1	0	0	0	13260	536	19	1	1106	1	RFWD2	1	176054920	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	949915	176054920	73195701	726	21651											
FAM5B	57795	broad.mit.edu	37	chr1	177250177	177250177	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gactaacgtggatgcagctgCccagtgccaaaactggacta	12	7	11	11	1	0	0	0	0	0	0	0	3	0	2	2	2	6	2	2	2	4	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:177250177C>T	ENST00000361539.4	+	8	2177	c.1865C>T	c.(1864-1866)gCc>gTc	p.A622V	BRINP2_ENST00000478325.1_3'UTR	NM_021165.2	NP_066988.1	Q9C0B6	BRNP2_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 2	622					cell cycle arrest (GO:0007050)|cellular response to retinoic acid (GO:0071300)|negative regulation of mitotic cell cycle (GO:0045930)|positive regulation of neuron differentiation (GO:0045666)	extracellular region (GO:0005576)											GATGCAGCTGCCCAGTGCCAA	0.522																																						ENST00000361539.4																			0				breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(21)|liver(1)|lung(41)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	94						c.(1864-1866)gCc>gTc									72	70	71					1																	177250177		2203	4300	6503	SO:0001583	missense	0					extracellular region		g.chr1:177250177C>T		CCDS1320.1	1q24	2013-08-06	2013-08-06	2013-07-31	ENSG00000198797	ENSG00000198797			13746	protein-coding gene	gene with protein product			"family with sequence similarity 5, member B"	FAM5B		15193423	Standard	NM_021165		Approved	DBCCR1L2	uc001glf.3	Q9C0B6	OTTHUMG00000034953	ENST00000361539.4:c.1865C>T	1.37:g.177250177C>T	ENSP00000354481:p.Ala622Val					FAM5B_ENST00000478325.1_3'UTR	p.A622V	NM_021165.2	NP_066988.1	Q9C0B6	FAM5B_HUMAN			8	2177	+			622					O95560|Q6ZWC1|Q7LCZ9|Q8N360	Missense_Mutation	SNP	ENST00000361539.4	37	c.1865C>T	CCDS1320.1	.	.	.	.	.	.	.	.	.	.	C	8.796	0.931641	0.18131	.	.	ENSG00000198797	ENST00000536589;ENST00000361539	T	0.14266	2.52	5.25	5.25	0.73442	.	0.053962	0.64402	D	0.000001	T	0.10035	0.0246	L	0.29908	0.895	0.41362	D	0.98743	P;B	0.35575	0.51;0.005	B;B	0.36567	0.228;0.002	T	0.24225	-1.0166	10	0.22109	T	0.4	-19.3467	8.5984	0.33729	0.0:0.764:0.1547:0.0813	.	517;622	Q9C0B6-2;Q9C0B6	.;FAM5B_HUMAN	V	375;622	ENSP00000354481:A622V	ENSP00000354481:A622V	A	+	2	0	FAM5B	175516800	0.998000	0.40836	1.000000	0.80357	0.976000	0.68499	2.555000	0.45854	2.443000	0.82685	0.313000	0.20887	GCC		0.522	BRINP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084599.1	NM_021165		12	22	0	0	0	1	0	12	22					T	177250177	C	T	177250177	3	4	435	1	0	0	0	0	1	0	0	0	5593	739	26	3	1891	3	FAM5B	1	177250177	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	1195257	177250177	72000444	727	21652											
FAM5B	57795	broad.mit.edu	37	chr1	177250404	177250404	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctttgacccagatgctatcCgggacttaattctccagttg	8	13	8	12	1	1	2	0	1	1	1	3	3	2	3	4	1	1	2	4	1	2	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:177250404C>T	ENST00000361539.4	+	8	2404	c.2092C>T	c.(2092-2094)Cgg>Tgg	p.R698W	BRINP2_ENST00000478325.1_3'UTR	NM_021165.2	NP_066988.1	Q9C0B6	BRNP2_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 2	698					cell cycle arrest (GO:0007050)|cellular response to retinoic acid (GO:0071300)|negative regulation of mitotic cell cycle (GO:0045930)|positive regulation of neuron differentiation (GO:0045666)	extracellular region (GO:0005576)											AGATGCTATCCGGGACTTAAT	0.502																																						ENST00000361539.4																			0				breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(21)|liver(1)|lung(41)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	94						c.(2092-2094)Cgg>Tgg									107	110	109					1																	177250404		2203	4300	6503	SO:0001583	missense	0					extracellular region		g.chr1:177250404C>T		CCDS1320.1	1q24	2013-08-06	2013-08-06	2013-07-31	ENSG00000198797	ENSG00000198797			13746	protein-coding gene	gene with protein product			"family with sequence similarity 5, member B"	FAM5B		15193423	Standard	NM_021165		Approved	DBCCR1L2	uc001glf.3	Q9C0B6	OTTHUMG00000034953	ENST00000361539.4:c.2092C>T	1.37:g.177250404C>T	ENSP00000354481:p.Arg698Trp					FAM5B_ENST00000478325.1_3'UTR	p.R698W	NM_021165.2	NP_066988.1	Q9C0B6	FAM5B_HUMAN			8	2404	+			698					O95560|Q6ZWC1|Q7LCZ9|Q8N360	Missense_Mutation	SNP	ENST00000361539.4	37	c.2092C>T	CCDS1320.1	.	.	.	.	.	.	.	.	.	.	C	16.72	3.200617	0.58126	.	.	ENSG00000198797	ENST00000536589;ENST00000361539	T	0.19394	2.15	5.26	4.34	0.51931	.	0.057278	0.64402	D	0.000003	T	0.43765	0.1262	M	0.61703	1.905	0.58432	D	0.999992	D;D	0.89917	1.0;1.0	D;D	0.77004	0.989;0.949	T	0.43245	-0.9403	10	0.87932	D	0	-27.0602	14.8767	0.70498	0.1449:0.8551:0.0:0.0	.	593;698	Q9C0B6-2;Q9C0B6	.;FAM5B_HUMAN	W	451;698	ENSP00000354481:R698W	ENSP00000354481:R698W	R	+	1	2	FAM5B	175517027	0.999000	0.42202	1.000000	0.80357	0.759000	0.43091	3.212000	0.51145	1.199000	0.43173	0.305000	0.20034	CGG		0.502	BRINP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084599.1	NM_021165		32	66	0	0	0	1	0	32	66					T	177250404	C	T	177250404	3	4	435	1	0	0	0	0	1	0	0	0	5593	643	23	2	2118	2	FAM5B	1	177250404	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	227	177250404	72000217	728	21653											
FAM5B	57795	broad.mit.edu	37	chr1	177250451	177250451	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccatatactcaaggttcccaGgactctgcactcttgcagct	9	11	7	14	0	3	0	1	0	2	0	4	1	4	1	2	2	4	4	2	2	3	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:177250451G>A	ENST00000361539.4	+	8	2451	c.2139G>A	c.(2137-2139)caG>caA	p.Q713Q	BRINP2_ENST00000478325.1_3'UTR	NM_021165.2	NP_066988.1	Q9C0B6	BRNP2_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 2	713					cell cycle arrest (GO:0007050)|cellular response to retinoic acid (GO:0071300)|negative regulation of mitotic cell cycle (GO:0045930)|positive regulation of neuron differentiation (GO:0045666)	extracellular region (GO:0005576)											AAGGTTCCCAGGACTCTGCAC	0.532																																						ENST00000361539.4																			0				breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(21)|liver(1)|lung(41)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	94						c.(2137-2139)caG>caA									107	106	106					1																	177250451		2203	4300	6503	SO:0001819	synonymous_variant	0					extracellular region		g.chr1:177250451G>A		CCDS1320.1	1q24	2013-08-06	2013-08-06	2013-07-31	ENSG00000198797	ENSG00000198797			13746	protein-coding gene	gene with protein product			"family with sequence similarity 5, member B"	FAM5B		15193423	Standard	NM_021165		Approved	DBCCR1L2	uc001glf.3	Q9C0B6	OTTHUMG00000034953	ENST00000361539.4:c.2139G>A	1.37:g.177250451G>A						FAM5B_ENST00000478325.1_3'UTR	p.Q713Q	NM_021165.2	NP_066988.1	Q9C0B6	FAM5B_HUMAN			8	2451	+			713					O95560|Q6ZWC1|Q7LCZ9|Q8N360	Silent	SNP	ENST00000361539.4	37	c.2139G>A	CCDS1320.1																																																																																				0.532	BRINP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084599.1	NM_021165		25	71	0	0	0	1	0	25	71					A	177250451	G	A	177250451	2	1	435	1	0	0	0	0	0	0	0	1	5593	991	35	3		3	FAM5B	1	177250451	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	47	177250451	72000170	729	21654											
SEC16B	89866	broad.mit.edu	37	chr1	177902750	177902750	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaactctcagaaatacttcGtggtctagcagccaatggtg	11	10	11	9	1	2	1	1	0	2	1	4	2	2	2	1	3	4	1	1	3	5	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:177902750G>T	ENST00000308284.6	-	21	2682	c.2593C>A	c.(2593-2595)Cga>Aga	p.R865R	SEC16B_ENST00000495165.1_5'UTR|RP4-798P15.3_ENST00000354921.3_RNA	NM_033127.2	NP_149118.2	Q96JE7	SC16B_HUMAN	SEC16 homolog B (S. cerevisiae)	865					COPII vesicle coating (GO:0048208)|endoplasmic reticulum organization (GO:0007029)|peroxisome fission (GO:0016559)|peroxisome organization (GO:0007031)|positive regulation of gene expression (GO:0010628)|positive regulation of protein exit from endoplasmic reticulum (GO:0070863)|protein localization to endoplasmic reticulum (GO:0070972)|protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|Golgi membrane (GO:0000139)|intracellular membrane-bounded organelle (GO:0043231)				central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)|stomach(1)	35						GAAATACTTCGTGGTCTAGCA	0.468																																						ENST00000308284.6																			0				central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)|stomach(1)	35						c.(2593-2595)Cga>Aga		SEC16 homolog B (S. cerevisiae)							57	57	57					1																	177902750		1918	4133	6051	SO:0001819	synonymous_variant	89866				protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane		g.chr1:177902750G>T	AK090411	CCDS44281.1	1q25.2	2012-10-08	2007-06-20	2007-06-20	ENSG00000120341	ENSG00000120341			30301	protein-coding gene	gene with protein product	"regucalcin gene promotor region related protein"	612855	"leucine zipper transcription regulator 2"	LZTR2		11572484, 11605020	Standard	NM_033127		Approved	RGPR, PGPR-p117	uc001gli.1	Q96JE7	OTTHUMG00000167206	ENST00000308284.6:c.2593C>A	1.37:g.177902750G>T						RP4-798P15.3_ENST00000354921.2_5'UTR|RP4-798P15.3_ENST00000528461.1_3'UTR|SEC16B_ENST00000495165.1_5'UTR	p.R865R	NM_033127.2	NP_149118.2	Q96JE7	SC16B_HUMAN			21	2682	-			865					A3EYF1|Q5HYF6|Q8N7D6|Q96GX6	Silent	SNP	ENST00000308284.6	37	c.2593C>A	CCDS44281.1																																																																																				0.468	SEC16B-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084773.16	NM_033127		14	30	1	0	6.31663e-08	1	6.64488e-08	14	30					T	177902750	G	T	177902750	2	4	435	1	0	0	0	0	0	0	0	1	13987	1153	40	5		5	SEC16B	1	177902750	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	652299	177902750	71347871	730	21655											
RASAL2	9462	broad.mit.edu	37	chr1	178420766	178420766	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgaagtggatcccagcaaatGttcatctagtgaactgatag	13	11	10	7	0	2	3	1	3	1	0	3	4	3	4	1	1	2	2	1	1	5	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:178420766G>A	ENST00000462775.1	+	8	1369	c.1244G>A	c.(1243-1245)tGt>tAt	p.C415Y	RASAL2_ENST00000367649.3_Missense_Mutation_p.C563Y|RASAL2_ENST00000448150.3_Missense_Mutation_p.C545Y	NM_004841.3	NP_004832.1	Q9UJF2	NGAP_HUMAN	RAS protein activator like 2	415	Ras-GAP. {ECO:0000255|PROSITE- ProRule:PRU00167}.				negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	Ras GTPase activator activity (GO:0005099)			biliary_tract(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(2)|lung(25)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54						CCCAGCAAATGTTCATCTAGT	0.408																																						ENST00000448150.3																			0				biliary_tract(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(2)|lung(25)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54						c.(1633-1635)tGt>tAt		RAS protein activator like 2							185	175	178					1																	178420766		2203	4300	6503	SO:0001583	missense	9462				negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity	g.chr1:178420766G>A	AF047711	CCDS1321.1, CCDS1322.1, CCDS1321.2	1q25	2013-01-10			ENSG00000075391	ENSG00000075391		"Pleckstrin homology (PH) domain containing"	9874	protein-coding gene	gene with protein product	"Ras GTPase activating protein-like", "Ras protein activator like 1"	606136				9877179	Standard	NM_004841		Approved	nGAP	uc001glq.3	Q9UJF2	OTTHUMG00000035022	ENST00000462775.1:c.1244G>A	1.37:g.178420766G>A	ENSP00000420558:p.Cys415Tyr					RASAL2_ENST00000367649.3_Missense_Mutation_p.C563Y|RASAL2_ENST00000462775.1_Missense_Mutation_p.C415Y	p.C545Y	NM_170692.2	NP_733793.2	Q9UJF2	NGAP_HUMAN			10	2452	+			415					F8W755|O95174|Q2TB22|Q5TFU9	Missense_Mutation	SNP	ENST00000462775.1	37	c.1634G>A	CCDS1322.1	.	.	.	.	.	.	.	.	.	.	G	28.1	4.889075	0.91814	.	.	ENSG00000075391	ENST00000448150;ENST00000367649;ENST00000462775	T;T;T	0.79141	-1.24;-1.24;-1.24	5.84	5.84	0.93424	Rho GTPase activation protein (1);Ras GTPase-activating protein (4);	0.000000	0.85682	D	0.000000	D	0.89392	0.6702	M	0.80982	2.52	0.80722	D	1	D;D	0.89917	1.0;0.997	D;P	0.97110	1.0;0.822	D	0.89772	0.3955	10	0.87932	D	0	.	20.1551	0.98106	0.0:0.0:1.0:0.0	.	415;563	Q9UJF2;F8W755	NGAP_HUMAN;.	Y	545;563;415	ENSP00000407768:C545Y;ENSP00000356621:C563Y;ENSP00000420558:C415Y	ENSP00000356621:C563Y	C	+	2	0	RASAL2	176687389	1.000000	0.71417	0.960000	0.40013	0.995000	0.86356	9.731000	0.98807	2.760000	0.94817	0.655000	0.94253	TGT		0.408	RASAL2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000084758.3	NM_170692		54	55	0	0	0	1	0	54	55					A	178420766	G	A	178420766	3	1	435	1	0	0	0	0	1	0	0	0	13064	1377	48	3	1743	3	RASAL2	1	178420766	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	518016	178420766	70829855	731	21656											
TOR1AIP2	163590	broad.mit.edu	37	chr1	179820144	179820144	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagagctgctccctaagtgtGcatctgctcttcctaccttg	6	13	8	14	0	2	1	0	0	2	1	4	1	4	1	3	0	5	4	3	0	2	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:179820144G>A	ENST00000367612.3	-	4	776	c.389C>T	c.(388-390)gCa>gTa	p.A130V	TOR1AIP2_ENST00000609928.1_Missense_Mutation_p.A130V	NM_145034.4	NP_659471.1	Q9H496	IFG15_HUMAN	torsin A interacting protein 2	0										cervix(1)|endometrium(3)|large_intestine(1)|lung(10)|ovary(1)|skin(2)	18						CCCTAAGTGTGCATCTGCTCT	0.547																																						ENST00000367612.3																			0				cervix(1)|endometrium(3)|large_intestine(1)|lung(10)|ovary(1)|skin(2)	18						c.(388-390)gCa>gTa		torsin A interacting protein 2							93	87	89					1																	179820144		2203	4300	6503	SO:0001583	missense	163590					endoplasmic reticulum membrane|integral to membrane	protein binding	g.chr1:179820144G>A		CCDS1334.1	1q25.2	2012-02-09			ENSG00000169905	ENSG00000169905			24055	protein-coding gene	gene with protein product		614513				15767459	Standard	NM_145034		Approved	LULL1, NET9, IFRG15	uc001gnk.3	Q8NFQ8	OTTHUMG00000035265	ENST00000367612.3:c.389C>T	1.37:g.179820144G>A	ENSP00000356584:p.Ala130Val						p.A130V	NM_001199260.1|NM_145034.4	NP_001186189.1|NP_659471.1	Q8NFQ8	TOIP2_HUMAN			4	776	-			130					Q05BU2	Missense_Mutation	SNP	ENST00000367612.3	37	c.389C>T	CCDS1334.1	.	.	.	.	.	.	.	.	.	.	G	14.45	2.538868	0.45176	.	.	ENSG00000169905	ENST00000367612	T	0.26518	1.73	5.76	-1.13	0.09775	.	0.767521	0.10639	N	0.651268	T	0.21509	0.0518	M	0.63428	1.95	0.09310	N	1	B	0.10296	0.003	B	0.17098	0.017	T	0.38156	-0.9674	10	0.59425	D	0.04	-0.3742	1.8288	0.03126	0.1525:0.1292:0.321:0.3973	.	130	Q8NFQ8	TOIP2_HUMAN	V	130	ENSP00000356584:A130V	ENSP00000356584:A130V	A	-	2	0	TOR1AIP2	178086767	0.000000	0.05858	0.000000	0.03702	0.014000	0.08584	-0.446000	0.06837	-0.157000	0.11059	-0.878000	0.02970	GCA		0.547	TOR1AIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085304.1	NM_145034		19	32	0	0	0	1	0	19	32					A	179820144	G	A	179820144	3	1	435	1	0	0	0	0	1	0	0	0	16370	1319	46	3	1035	3	TOR1AIP2	1	179820144	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	1399378	179820144	69430477	732	21657											
CEP350	9857	broad.mit.edu	37	chr1	179985037	179985037	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gacaaagaaaacaaagtacaGgaacgtcccccaagtgcatc	18	4	8	11	1	0	1	0	0	0	1	2	3	1	2	2	1	4	2	2	1	7	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:179985037G>C	ENST00000367607.3	+	11	2524	c.2106G>C	c.(2104-2106)caG>caC	p.Q702H		NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN	centrosomal protein 350kDa	702					microtubule anchoring (GO:0034453)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						ACAAAGTACAGGAACGTCCCC	0.418																																						ENST00000367607.3																			0				central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						c.(2104-2106)caG>caC		centrosomal protein 350kDa							99	87	91					1																	179985037		2203	4300	6503	SO:0001583	missense	9857					centrosome|nucleus|spindle		g.chr1:179985037G>C	AF287356	CCDS1336.1	1q25.2	2014-02-20			ENSG00000135837	ENSG00000135837			24238	protein-coding gene	gene with protein product	"centrosome associated protein 350"					16314388, 15615782	Standard	NM_014810		Approved	KIAA0480, CAP350	uc001gnt.3	Q5VT06	OTTHUMG00000035269	ENST00000367607.3:c.2106G>C	1.37:g.179985037G>C	ENSP00000356579:p.Gln702His						p.Q702H	NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN			11	2524	+			702					O75068|Q8TDK3|Q8WY20	Missense_Mutation	SNP	ENST00000367607.3	37	c.2106G>C	CCDS1336.1	.	.	.	.	.	.	.	.	.	.	G	15.35	2.806605	0.50421	.	.	ENSG00000135837	ENST00000367607	T	0.13657	2.57	5.57	3.37	0.38596	.	0.000000	0.43416	D	0.000563	T	0.18215	0.0437	N	0.20986	0.625	0.41059	D	0.985361	D;P	0.67145	0.996;0.553	D;B	0.75484	0.986;0.335	T	0.05007	-1.0912	9	.	.	.	.	6.7267	0.23361	0.3565:0.0:0.6435:0.0	.	702;702	E7EU22;Q5VT06	.;CE350_HUMAN	H	702	ENSP00000356579:Q702H	.	Q	+	3	2	CEP350	178251660	0.980000	0.34600	1.000000	0.80357	0.994000	0.84299	0.174000	0.16743	1.370000	0.46153	0.563000	0.77884	CAG		0.418	CEP350-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085315.2	NM_014810		7	16	0	0	0	1	0	7	16					C	179985037	G	C	179985037	3	2	435	1	0	0	0	0	1	0	0	0	3254	991	35	5	2144	5	CEP350	1	179985037	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	164893	179985037	69265584	733	21658											
CEP350	9857	broad.mit.edu	37	chr1	179989380	179989380	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atataagagtaaactggatcGtattgaagccttgaaagcaa	17	10	9	5	1	0	3	0	2	0	1	1	4	0	4	1	1	3	3	1	1	8	6			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:179989380G>A	ENST00000367607.3	+	12	2889	c.2471G>A	c.(2470-2472)cGt>cAt	p.R824H		NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN	centrosomal protein 350kDa	824					microtubule anchoring (GO:0034453)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						AAACTGGATCGTATTGAAGCC	0.433																																						ENST00000367607.3																			0				central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						c.(2470-2472)cGt>cAt		centrosomal protein 350kDa							130	136	134					1																	179989380		2203	4300	6503	SO:0001583	missense	9857					centrosome|nucleus|spindle		g.chr1:179989380G>A	AF287356	CCDS1336.1	1q25.2	2014-02-20			ENSG00000135837	ENSG00000135837			24238	protein-coding gene	gene with protein product	"centrosome associated protein 350"					16314388, 15615782	Standard	NM_014810		Approved	KIAA0480, CAP350	uc001gnt.3	Q5VT06	OTTHUMG00000035269	ENST00000367607.3:c.2471G>A	1.37:g.179989380G>A	ENSP00000356579:p.Arg824His						p.R824H	NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN			12	2889	+			824					O75068|Q8TDK3|Q8WY20	Missense_Mutation	SNP	ENST00000367607.3	37	c.2471G>A	CCDS1336.1	.	.	.	.	.	.	.	.	.	.	G	17.26	3.344037	0.61073	.	.	ENSG00000135837	ENST00000367607	T	0.25250	1.81	6.02	5.1	0.69264	.	0.143953	0.29916	N	0.010875	T	0.14743	0.0356	N	0.24115	0.695	0.58432	D	0.999994	P;P	0.40050	0.647;0.7	B;B	0.28849	0.07;0.095	T	0.06250	-1.0837	9	.	.	.	.	14.383	0.66923	0.0709:0.0:0.9291:0.0	.	824;824	E7EU22;Q5VT06	.;CE350_HUMAN	H	824	ENSP00000356579:R824H	.	R	+	2	0	CEP350	178256003	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.337000	0.79256	2.865000	0.98341	0.655000	0.94253	CGT		0.433	CEP350-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085315.2	NM_014810		43	81	0	0	0	1	0	43	81					A	179989380	G	A	179989380	3	1	435	1	0	0	0	0	1	0	0	0	3254	1145	40	1	2513	1	CEP350	1	179989380	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	4343	179989380	69261241	734	21659											
CEP350	9857	broad.mit.edu	37	chr1	179990054	179990054	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgggcacataggtggtacaCaaagcaaaggaccatgggaa	15	6	13	7	0	0	0	0	0	0	0	0	2	0	2	1	5	2	3	1	5	5	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:179990054C>T	ENST00000367607.3	+	12	3563	c.3145C>T	c.(3145-3147)Caa>Taa	p.Q1049*		NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN	centrosomal protein 350kDa	1049					microtubule anchoring (GO:0034453)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						AGGTGGTACACAAAGCAAAGG	0.368																																						ENST00000367607.3																			0				central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						c.(3145-3147)Caa>Taa		centrosomal protein 350kDa							20	21	21					1																	179990054		2178	4242	6420	SO:0001587	stop_gained	9857					centrosome|nucleus|spindle		g.chr1:179990054C>T	AF287356	CCDS1336.1	1q25.2	2014-02-20			ENSG00000135837	ENSG00000135837			24238	protein-coding gene	gene with protein product	"centrosome associated protein 350"					16314388, 15615782	Standard	NM_014810		Approved	KIAA0480, CAP350	uc001gnt.3	Q5VT06	OTTHUMG00000035269	ENST00000367607.3:c.3145C>T	1.37:g.179990054C>T	ENSP00000356579:p.Gln1049*						p.Q1049*	NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN			12	3563	+			1049					O75068|Q8TDK3|Q8WY20	Nonsense_Mutation	SNP	ENST00000367607.3	37	c.3145C>T	CCDS1336.1	.	.	.	.	.	.	.	.	.	.	C	40	8.158561	0.98683	.	.	ENSG00000135837	ENST00000367607	.	.	.	5.9	2.94	0.34122	.	0.153350	0.30374	N	0.009761	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.0697	0.42325	0.0:0.53:0.3994:0.0706	.	.	.	.	X	1049	.	.	Q	+	1	0	CEP350	178256677	0.666000	0.27475	0.734000	0.30879	0.228000	0.25075	1.068000	0.30629	0.366000	0.24427	-0.175000	0.13238	CAA		0.368	CEP350-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085315.2	NM_014810		5	8	0	0	0	1	0	5	8					T	179990054	C	T	179990054	4	4	435	1	0	0	0	0	0	1	0	0	3254	479	17	3	3187	3	CEP350	1	179990054	Nonsense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	674	179990054	69260567	735	21660											
CEP350	9857	broad.mit.edu	37	chr1	179991872	179991872	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagaggaacatcaacatcacGgcctttgaatgccaccgcaa	14	6	8	13	2	2	2	2	1	0	1	2	3	2	3	3	2	3	1	3	2	4	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:179991872G>T	ENST00000367607.3	+	13	3693	c.3275G>T	c.(3274-3276)cGg>cTg	p.R1092L		NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN	centrosomal protein 350kDa	1092					microtubule anchoring (GO:0034453)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						TCAACATCACGGCCTTTGAAT	0.393																																						ENST00000367607.3																			0				central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						c.(3274-3276)cGg>cTg		centrosomal protein 350kDa							87	84	85					1																	179991872		2203	4300	6503	SO:0001583	missense	9857					centrosome|nucleus|spindle		g.chr1:179991872G>T	AF287356	CCDS1336.1	1q25.2	2014-02-20			ENSG00000135837	ENSG00000135837			24238	protein-coding gene	gene with protein product	"centrosome associated protein 350"					16314388, 15615782	Standard	NM_014810		Approved	KIAA0480, CAP350	uc001gnt.3	Q5VT06	OTTHUMG00000035269	ENST00000367607.3:c.3275G>T	1.37:g.179991872G>T	ENSP00000356579:p.Arg1092Leu						p.R1092L	NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN			13	3693	+			1092					O75068|Q8TDK3|Q8WY20	Missense_Mutation	SNP	ENST00000367607.3	37	c.3275G>T	CCDS1336.1	.	.	.	.	.	.	.	.	.	.	G	14.03	2.414741	0.42817	.	.	ENSG00000135837	ENST00000367607	T	0.12039	2.72	5.84	1.95	0.26073	.	0.495478	0.16892	N	0.195289	T	0.09423	0.0232	L	0.36672	1.1	0.09310	N	0.999998	P;P	0.42973	0.589;0.796	B;B	0.36378	0.096;0.223	T	0.20207	-1.0282	9	.	.	.	.	8.9207	0.35610	0.3469:0.0:0.6531:0.0	.	1092;1092	E7EU22;Q5VT06	.;CE350_HUMAN	L	1092	ENSP00000356579:R1092L	.	R	+	2	0	CEP350	178258495	0.087000	0.21565	0.002000	0.10522	0.583000	0.36354	2.017000	0.40981	0.114000	0.18032	0.557000	0.71058	CGG		0.393	CEP350-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085315.2	NM_014810		3	18	1	0	0.00024832	1	0.000253518	3	18					T	179991872	G	T	179991872	3	4	435	1	0	0	0	0	1	0	0	0	3254	1116	39	5	3321	5	CEP350	1	179991872	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	1818	179991872	69258749	736	21661											
CEP350	9857	broad.mit.edu	37	chr1	180003188	180003188	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gaacccggcagccagcagaaCaacgacagagaacatggctc	15	2	11	13	2	0	2	0	0	0	2	1	5	0	2	2	2	6	3	2	2	4	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:180003188C>T	ENST00000367607.3	+	16	4335	c.3917C>T	c.(3916-3918)aCa>aTa	p.T1306I		NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN	centrosomal protein 350kDa	1306					microtubule anchoring (GO:0034453)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						GCCAGCAGAACAACGACAGAG	0.388																																						ENST00000367607.3																			0				central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						c.(3916-3918)aCa>aTa		centrosomal protein 350kDa							77	72	74					1																	180003188		2203	4300	6503	SO:0001583	missense	9857					centrosome|nucleus|spindle		g.chr1:180003188C>T	AF287356	CCDS1336.1	1q25.2	2014-02-20			ENSG00000135837	ENSG00000135837			24238	protein-coding gene	gene with protein product	"centrosome associated protein 350"					16314388, 15615782	Standard	NM_014810		Approved	KIAA0480, CAP350	uc001gnt.3	Q5VT06	OTTHUMG00000035269	ENST00000367607.3:c.3917C>T	1.37:g.180003188C>T	ENSP00000356579:p.Thr1306Ile						p.T1306I	NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN			16	4335	+			1306					O75068|Q8TDK3|Q8WY20	Missense_Mutation	SNP	ENST00000367607.3	37	c.3917C>T	CCDS1336.1	.	.	.	.	.	.	.	.	.	.	C	8.740	0.918671	0.17982	.	.	ENSG00000135837	ENST00000367607	T	0.56444	0.46	5.77	2.8	0.32819	.	0.473148	0.17912	N	0.157805	T	0.34077	0.0885	L	0.27053	0.805	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.06405	0.002;0.001	T	0.17899	-1.0354	9	.	.	.	.	6.7685	0.23581	0.1463:0.7041:0.0:0.1496	.	1306;1306	E7EU22;Q5VT06	.;CE350_HUMAN	I	1306	ENSP00000356579:T1306I	.	T	+	2	0	CEP350	178269811	0.013000	0.17824	0.000000	0.03702	0.033000	0.12548	2.207000	0.42788	0.318000	0.23185	0.514000	0.50259	ACA		0.388	CEP350-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085315.2	NM_014810		4	12	0	0	0	1	0	4	12					T	180003188	C	T	180003188	3	4	435	1	0	0	0	0	1	0	0	0	3254	478	17	3	3975	3	CEP350	1	180003188	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	11316	180003188	69247433	737	21662											
CEP350	9857	broad.mit.edu	37	chr1	180044193	180044193	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gagcaaaaattaatgcaacgGcgacaacatgcagaggagct	17	5	11	8	2	0	1	0	0	0	1	0	4	0	2	0	2	6	4	0	2	5	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:180044193G>T	ENST00000367607.3	+	28	6022	c.5604G>T	c.(5602-5604)cgG>cgT	p.R1868R		NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN	centrosomal protein 350kDa	1868					microtubule anchoring (GO:0034453)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						TAATGCAACGGCGACAACATG	0.443																																						ENST00000367607.3																			0				central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						c.(5602-5604)cgG>cgT		centrosomal protein 350kDa							60	54	56					1																	180044193		2203	4300	6503	SO:0001819	synonymous_variant	9857					centrosome|nucleus|spindle		g.chr1:180044193G>T	AF287356	CCDS1336.1	1q25.2	2014-02-20			ENSG00000135837	ENSG00000135837			24238	protein-coding gene	gene with protein product	"centrosome associated protein 350"					16314388, 15615782	Standard	NM_014810		Approved	KIAA0480, CAP350	uc001gnt.3	Q5VT06	OTTHUMG00000035269	ENST00000367607.3:c.5604G>T	1.37:g.180044193G>T							p.R1868R	NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN			28	6022	+			1868					O75068|Q8TDK3|Q8WY20	Silent	SNP	ENST00000367607.3	37	c.5604G>T	CCDS1336.1	.	.	.	.	.	.	.	.	.	.	G	10.67	1.416243	0.25552	.	.	ENSG00000135837	ENST00000429851	.	.	.	5.81	-0.437	0.12272	.	.	.	.	.	T	0.42040	0.1185	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.23868	-1.0176	4	.	.	.	.	2.1428	0.03779	0.372:0.21:0.3155:0.1025	.	.	.	.	S	43	.	.	A	+	1	0	CEP350	178310816	0.941000	0.31946	0.877000	0.34402	0.992000	0.81027	0.026000	0.13599	-0.106000	0.12110	0.591000	0.81541	GCG		0.443	CEP350-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085315.2	NM_014810		8	6	1	0	0.0477658	1	0.0480142	8	6					T	180044193	G	T	180044193	2	4	435	1	0	0	0	0	0	0	0	1	3254	1190	42	5		5	CEP350	1	180044193	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	41005	180044193	69206428	738	21663											
CEP350	9857	broad.mit.edu	37	chr1	180061797	180061797	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agtatcagaaaggtctttatCtgcatatgcaaagagagtaa	16	11	9	5	0	3	2	1	0	2	2	3	3	3	2	0	1	2	4	0	1	6	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:180061797C>T	ENST00000367607.3	+	34	6975	c.6557C>T	c.(6556-6558)tCt>tTt	p.S2186F	CEP350_ENST00000490141.1_3'UTR	NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN	centrosomal protein 350kDa	2186					microtubule anchoring (GO:0034453)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						AGGTCTTTATCTGCATATGCA	0.358																																						ENST00000367607.3																			0				central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						c.(6556-6558)tCt>tTt		centrosomal protein 350kDa							63	62	62					1																	180061797		2203	4300	6503	SO:0001583	missense	9857					centrosome|nucleus|spindle		g.chr1:180061797C>T	AF287356	CCDS1336.1	1q25.2	2014-02-20			ENSG00000135837	ENSG00000135837			24238	protein-coding gene	gene with protein product	"centrosome associated protein 350"					16314388, 15615782	Standard	NM_014810		Approved	KIAA0480, CAP350	uc001gnt.3	Q5VT06	OTTHUMG00000035269	ENST00000367607.3:c.6557C>T	1.37:g.180061797C>T	ENSP00000356579:p.Ser2186Phe					CEP350_ENST00000490141.1_3'UTR	p.S2186F	NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN			34	6975	+			2186					O75068|Q8TDK3|Q8WY20	Missense_Mutation	SNP	ENST00000367607.3	37	c.6557C>T	CCDS1336.1	.	.	.	.	.	.	.	.	.	.	C	12.80	2.047646	0.36085	.	.	ENSG00000135837	ENST00000367607	T	0.58940	0.3	5.87	5.87	0.94306	.	0.000000	0.48286	D	0.000189	T	0.49795	0.1578	L	0.36672	1.1	0.43347	D	0.995409	B;B	0.14012	0.002;0.009	B;B	0.14023	0.005;0.01	T	0.37056	-0.9722	9	.	.	.	.	18.3863	0.90468	0.0:1.0:0.0:0.0	.	2186;2186	E7EU22;Q5VT06	.;CE350_HUMAN	F	2186	ENSP00000356579:S2186F	.	S	+	2	0	CEP350	178328420	0.912000	0.30974	0.087000	0.20705	0.799000	0.45148	2.534000	0.45676	2.780000	0.95670	0.655000	0.94253	TCT		0.358	CEP350-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085315.2	NM_014810		9	16	0	0	0	1	0	9	16					T	180061797	C	T	180061797	3	4	435	1	0	0	0	0	1	0	0	0	3254	913	32	3	6687	3	CEP350	1	180061797	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	17604	180061797	69188824	739	21664											
LHX4	89884	broad.mit.edu	37	chr1	180235529	180235529	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttcctgctgccctgacaggcGcttcggcacaaaatgcacgg	8	8	11	14	3	0	1	0	1	0	0	2	1	1	1	2	3	3	4	2	3	2	2	rs374124070		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:180235529G>A	ENST00000263726.2	+	3	495	c.251G>A	c.(250-252)cGc>cAc	p.R84H		NM_033343.3	NP_203129.1	Q969G2	LHX4_HUMAN	LIM homeobox 4	84	LIM zinc-binding 1. {ECO:0000255|PROSITE- ProRule:PRU00125}.		R -> C (in CPHD4; has impaired activity on CGA, POU1F1 and TSHB promoters but exhibits normal DNA binding to the CGA pituitary glycoprotein basal element (PGBE) and interaction with the POU1F1 protein). {ECO:0000269|PubMed:18073311}.		medial motor column neuron differentiation (GO:0021526)|motor neuron axon guidance (GO:0008045)|negative regulation of apoptotic process (GO:0043066)|organ morphogenesis (GO:0009887)|placenta development (GO:0001890)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)	16						CCTGACAGGCGCTTCGGCACA	0.622																																						ENST00000263726.2																			0				endometrium(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)	16						c.(250-252)cGc>cAc		LIM homeobox 4		G	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	56	56	56		251	5.3	1	1		56	1,8599	1.2+/-3.3	0,1,4299	no	missense	LHX4	NM_033343.3	29	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	probably-damaging	84/391	180235529	2,13004	2203	4300	6503	SO:0001583	missense	89884					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr1:180235529G>A	AB037683	CCDS1338.1	1q25.3	2011-06-20			ENSG00000121454	ENSG00000121454		"Homeoboxes / LIM class"	21734	protein-coding gene	gene with protein product		602146				11844481, 11567216	Standard	NM_033343		Approved	Gsh4	uc001goe.2	Q969G2	OTTHUMG00000035115	ENST00000263726.2:c.251G>A	1.37:g.180235529G>A	ENSP00000263726:p.Arg84His						p.R84H	NM_033343.3	NP_203129.1	Q969G2	LHX4_HUMAN			3	495	+			84		R -> C (in CPHD4; has impaired activity on CGA, POU1F1 and TSHB promoters but exhibits normal DNA binding to the CGA pituitary glycoprotein basal element (PGBE) and interaction with the POU1F1 protein).	LIM zinc-binding 1.		Q8NHE0|Q8NHM1|Q8TCJ1|Q8WWX2|Q969W2	Missense_Mutation	SNP	ENST00000263726.2	37	c.251G>A	CCDS1338.1	.	.	.	.	.	.	.	.	.	.	G	16.76	3.211695	0.58452	2.27E-4	1.16E-4	ENSG00000121454	ENST00000263726	D	0.87491	-2.26	5.26	5.26	0.73747	Zinc finger, LIM-type (3);	0.000000	0.85682	D	0.000000	D	0.94463	0.8218	M	0.89968	3.075	0.80722	D	1	D	0.89917	1.0	D	0.67103	0.949	D	0.95443	0.8527	10	0.87932	D	0	.	17.6438	0.88144	0.0:0.0:1.0:0.0	.	84	Q969G2	LHX4_HUMAN	H	84	ENSP00000263726:R84H	ENSP00000263726:R84H	R	+	2	0	LHX4	178502152	1.000000	0.71417	1.000000	0.80357	0.877000	0.50540	9.703000	0.98714	2.467000	0.83353	0.561000	0.74099	CGC		0.622	LHX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084995.2	NM_033343		24	30	0	0	0	1	0	24	30					A	180235529	G	A	180235529	3	1	435	1	0	0	0	0	1	0	0	0	8773	1087	38	1	261	1	LHX4	1	180235529	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	173732	180235529	69015092	740	21665											
XPR1	9213	broad.mit.edu	37	chr1	180780559	180780559	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acagcctgcaccagcatggaCtacttttagagttggcctat	10	11	9	11	0	0	1	0	0	0	1	0	2	0	2	3	2	4	3	3	2	3	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:180780559C>T	ENST00000367590.4	+	7	896	c.698C>T	c.(697-699)aCt>aTt	p.T233I	XPR1_ENST00000367589.3_Missense_Mutation_p.T233I	NM_004736.3	NP_004727.2	Q9UBH6	XPR1_HUMAN	xenotropic and polytropic retrovirus receptor 1	233					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)|virus receptor activity (GO:0001618)			breast(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	35						CCAGCATGGACTACTTTTAGA	0.323																																						ENST00000367590.4																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	35						c.(697-699)aCt>aTt		xenotropic and polytropic retrovirus receptor 1							148	132	138					1																	180780559		2203	4300	6503	SO:0001583	missense	9213					integral to plasma membrane	G-protein coupled receptor activity	g.chr1:180780559C>T	AF099082	CCDS1340.1, CCDS44284.1	1q25.1	2013-07-18	2010-04-23		ENSG00000143324	ENSG00000143324			12827	protein-coding gene	gene with protein product		605237	"xenotropic and polytropic retrovirus receptor"			9990033	Standard	NM_004736		Approved	SYG1, X3	uc001goi.3	Q9UBH6	OTTHUMG00000035116	ENST00000367590.4:c.698C>T	1.37:g.180780559C>T	ENSP00000356562:p.Thr233Ile					XPR1_ENST00000367589.3_Missense_Mutation_p.T233I	p.T233I	NM_004736.3	NP_004727.2	Q9UBH6	XPR1_HUMAN			7	896	+			233					O95719|Q7L8K9|Q8IW20|Q9NT19|Q9UFB9	Missense_Mutation	SNP	ENST00000367590.4	37	c.698C>T	CCDS1340.1	.	.	.	.	.	.	.	.	.	.	C	16.79	3.221638	0.58560	.	.	ENSG00000143324	ENST00000367590;ENST00000367589	T	0.45668	0.89	5.4	5.4	0.78164	.	0.000000	0.85682	D	0.000000	T	0.48132	0.1483	L	0.45285	1.41	0.80722	D	1	B;B	0.31209	0.313;0.188	B;B	0.42692	0.395;0.074	T	0.35599	-0.9782	10	0.33940	T	0.23	-13.8766	19.1407	0.93445	0.0:1.0:0.0:0.0	.	233;233	Q9UBH6-2;Q9UBH6	.;XPR1_HUMAN	I	233	ENSP00000356562:T233I	ENSP00000356561:T233I	T	+	2	0	XPR1	179047182	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.223000	0.78033	2.673000	0.90976	0.655000	0.94253	ACT		0.323	XPR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084996.2	NM_004736		6	91	0	0	0	1	0	6	91					T	180780559	C	T	180780559	3	4	435	1	0	0	0	0	1	0	0	0	17448	565	20	3	724	3	XPR1	1	180780559	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	545030	180780559	68470062	741	21666											
KIAA1614	57710	broad.mit.edu	37	chr1	180905307	180905307	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccaccaccgcccccatgacGcctgaatcatcggggccagg	8	4	11	18	3	1	2	1	2	0	0	2	2	1	2	7	3	0	0	7	3	1	0	rs201220751		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:180905307G>A	ENST00000367588.4	+	5	2317	c.2262G>A	c.(2260-2262)acG>acA	p.T754T	KIAA1614_ENST00000367587.1_Silent_p.T375T	NM_020950.1	NP_066001.1	Q5VZ46	K1614_HUMAN	KIAA1614	754										NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	33						CCCCCATGACGCCTGAATCAT	0.622																																						ENST00000367588.4																			0				NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	33						c.(2260-2262)acG>acA		KIAA1614							61	67	65					1																	180905307		2045	4183	6228	SO:0001819	synonymous_variant	57710							g.chr1:180905307G>A	AB046834	CCDS41442.1	1q25.3	2008-02-05			ENSG00000135835	ENSG00000135835			29327	protein-coding gene	gene with protein product							Standard	NM_020950		Approved		uc001gok.2	Q5VZ46	OTTHUMG00000035183	ENST00000367588.4:c.2262G>A	1.37:g.180905307G>A						KIAA1614_ENST00000367587.1_Silent_p.T375T	p.T754T	NM_020950.1	NP_066001.1	Q5VZ46	K1614_HUMAN			5	2317	+			754					Q5VZ45|Q9HCF8	Silent	SNP	ENST00000367588.4	37	c.2262G>A	CCDS41442.1																																																																																				0.622	KIAA1614-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000085151.1	XM_046531		4	21	0	0	0	1	0	4	21					A	180905307	G	A	180905307	2	1	435	1	0	0	0	0	0	0	0	1	8248	1074	38	1		1	KIAA1614	1	180905307	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	124748	180905307	68345314	742	21667											
CACNA1E	777	broad.mit.edu	37	chr1	181684513	181684513	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agaaaataaaaatgctggaaCatccgccttagaaggtaagg	18	7	10	6	1	0	2	0	0	0	2	1	3	1	3	2	3	2	2	2	3	9	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:181684513C>T	ENST00000367573.2	+	9	1211	c.1211C>T	c.(1210-1212)aCa>aTa	p.T404I	CACNA1E_ENST00000367567.4_Missense_Mutation_p.T11I|CACNA1E_ENST00000367570.1_Missense_Mutation_p.T404I|CACNA1E_ENST00000526775.1_Missense_Mutation_p.T404I|CACNA1E_ENST00000360108.3_Missense_Mutation_p.T404I|CACNA1E_ENST00000358338.5_Missense_Mutation_p.T355I|CACNA1E_ENST00000357570.5_Missense_Mutation_p.T355I	NM_001205293.1	NP_001192222.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	404					calcium ion import (GO:0070509)|energy reserve metabolic process (GO:0006112)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|voltage-gated calcium channel activity (GO:0005245)			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						AATGCTGGAACATCCGCCTTA	0.378																																						ENST00000526775.1																			0				NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						c.(1210-1212)aCa>aTa		calcium channel, voltage-dependent, R type, alpha 1E subunit							56	54	55					1																	181684513		1850	4114	5964	SO:0001583	missense	777				energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr1:181684513C>T	AK096563	CCDS53443.1, CCDS55664.1, CCDS55665.1	1q25.3	2013-01-10	2007-02-16		ENSG00000198216	ENSG00000198216		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels", "EF-hand domain containing"	1392	protein-coding gene	gene with protein product		601013		CACNL1A6		8388125, 16382099	Standard	NM_001205293		Approved	Cav2.3, BII, CACH6	uc009wxt.3	Q15878	OTTHUMG00000037301	ENST00000367573.2:c.1211C>T	1.37:g.181684513C>T	ENSP00000356545:p.Thr404Ile					CACNA1E_ENST00000367570.1_Missense_Mutation_p.T404I|CACNA1E_ENST00000360108.3_Missense_Mutation_p.T404I|CACNA1E_ENST00000367567.4_Missense_Mutation_p.T11I|CACNA1E_ENST00000367573.2_Missense_Mutation_p.T404I|CACNA1E_ENST00000357570.5_Missense_Mutation_p.T355I|CACNA1E_ENST00000358338.5_Missense_Mutation_p.T355I	p.T404I	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN			9	1376	+			404					B1AM12|B1AM13|B1AM14|Q14580|Q14581	Missense_Mutation	SNP	ENST00000367573.2	37	c.1211C>T	CCDS55664.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.227589	0.79576	.	.	ENSG00000198216	ENST00000524607;ENST00000367570;ENST00000526775;ENST00000357570;ENST00000358338;ENST00000367567;ENST00000360108;ENST00000367573	D;D;D;D;D;D;D;D	0.96265	-3.21;-3.21;-3.21;-3.21;-3.21;-3.96;-3.21;-3.21	5.36	5.36	0.76844	.	0.861229	0.10542	N	0.662567	D	0.94637	0.8271	N	0.17474	0.49	0.42244	D	0.991947	D;D	0.53745	0.962;0.962	P;P	0.49276	0.605;0.605	D	0.93198	0.6589	10	0.46703	T	0.11	.	19.0518	0.93050	0.0:1.0:0.0:0.0	.	404;404	Q15878-2;Q15878-3	.;.	I	404;404;404;355;355;11;404;404	ENSP00000432038:T404I;ENSP00000356542:T404I;ENSP00000434814:T404I;ENSP00000350183:T355I;ENSP00000351101:T355I;ENSP00000356539:T11I;ENSP00000353222:T404I;ENSP00000356545:T404I	ENSP00000350183:T355I	T	+	2	0	CACNA1E	179951136	0.880000	0.30214	0.253000	0.24343	0.823000	0.46562	2.290000	0.43531	2.673000	0.90976	0.650000	0.86243	ACA		0.378	CACNA1E-003	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090793.2	NM_000721		8	8	0	0	0	1	0	8	8					T	181684513	C	T	181684513	3	4	435	1	0	0	0	0	1	0	0	0	2542	478	17	3	1245	3	CACNA1E	1	181684513	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	779206	181684513	67566108	743	21668											
CACNA1E	777	broad.mit.edu	37	chr1	181686338	181686338	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	attcgccacatggttaaatcCcaggtgttttactggattgt	9	15	9	8	1	0	0	0	0	0	0	2	1	1	1	2	3	1	2	2	3	3	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:181686338C>T	ENST00000367573.2	+	11	1425	c.1425C>T	c.(1423-1425)tcC>tcT	p.S475S	CACNA1E_ENST00000367567.4_Silent_p.S82S|CACNA1E_ENST00000367570.1_Silent_p.S475S|CACNA1E_ENST00000526775.1_Silent_p.S475S|CACNA1E_ENST00000360108.3_Silent_p.S475S|CACNA1E_ENST00000358338.5_Silent_p.S426S|CACNA1E_ENST00000357570.5_Silent_p.S426S	NM_001205293.1	NP_001192222.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	475					calcium ion import (GO:0070509)|energy reserve metabolic process (GO:0006112)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|voltage-gated calcium channel activity (GO:0005245)			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						TGGTTAAATCCCAGGTGTTTT	0.537																																						ENST00000526775.1																			0				NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						c.(1423-1425)tcC>tcT		calcium channel, voltage-dependent, R type, alpha 1E subunit							109	110	110					1																	181686338		1976	4153	6129	SO:0001819	synonymous_variant	777				energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr1:181686338C>T	AK096563	CCDS53443.1, CCDS55664.1, CCDS55665.1	1q25.3	2013-01-10	2007-02-16		ENSG00000198216	ENSG00000198216		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels", "EF-hand domain containing"	1392	protein-coding gene	gene with protein product		601013		CACNL1A6		8388125, 16382099	Standard	NM_001205293		Approved	Cav2.3, BII, CACH6	uc009wxt.3	Q15878	OTTHUMG00000037301	ENST00000367573.2:c.1425C>T	1.37:g.181686338C>T						CACNA1E_ENST00000367570.1_Silent_p.S475S|CACNA1E_ENST00000360108.3_Silent_p.S475S|CACNA1E_ENST00000367567.4_Silent_p.S82S|CACNA1E_ENST00000367573.2_Silent_p.S475S|CACNA1E_ENST00000357570.5_Silent_p.S426S|CACNA1E_ENST00000358338.5_Silent_p.S426S	p.S475S	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN			11	1590	+			475					B1AM12|B1AM13|B1AM14|Q14580|Q14581	Silent	SNP	ENST00000367573.2	37	c.1425C>T	CCDS55664.1																																																																																				0.537	CACNA1E-003	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090793.2	NM_000721		22	27	0	0	0	1	0	22	27					T	181686338	C	T	181686338	2	4	435	1	0	0	0	0	0	0	0	1	2542	610	22	3		3	CACNA1E	1	181686338	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	1825	181686338	67564283	744	21669											
CACNA1E	777	broad.mit.edu	37	chr1	181706764	181706764	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctggcggcagaggaccccGtcctgaccaactcggagcgc	7	4	13	17	4	0	2	0	1	0	1	2	4	1	4	5	4	2	1	5	4	1	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:181706764G>A	ENST00000367573.2	+	23	3526	c.3526G>A	c.(3526-3528)Gtc>Atc	p.V1176I	CACNA1E_ENST00000367567.4_Missense_Mutation_p.V783I|CACNA1E_ENST00000367570.1_Missense_Mutation_p.V1176I|CACNA1E_ENST00000526775.1_Missense_Mutation_p.V1157I|CACNA1E_ENST00000360108.3_Missense_Mutation_p.V1157I|CACNA1E_ENST00000358338.5_Missense_Mutation_p.V1108I|CACNA1E_ENST00000357570.5_Missense_Mutation_p.V1127I	NM_001205293.1	NP_001192222.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	1176					calcium ion import (GO:0070509)|energy reserve metabolic process (GO:0006112)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|voltage-gated calcium channel activity (GO:0005245)			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						AGAGGACCCCGTCCTGACCAA	0.617																																						ENST00000526775.1																			0				NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						c.(3469-3471)Gtc>Atc		calcium channel, voltage-dependent, R type, alpha 1E subunit							97	103	101					1																	181706764		2067	4213	6280	SO:0001583	missense	777				energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr1:181706764G>A	AK096563	CCDS53443.1, CCDS55664.1, CCDS55665.1	1q25.3	2013-01-10	2007-02-16		ENSG00000198216	ENSG00000198216		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels", "EF-hand domain containing"	1392	protein-coding gene	gene with protein product		601013		CACNL1A6		8388125, 16382099	Standard	NM_001205293		Approved	Cav2.3, BII, CACH6	uc009wxt.3	Q15878	OTTHUMG00000037301	ENST00000367573.2:c.3526G>A	1.37:g.181706764G>A	ENSP00000356545:p.Val1176Ile					CACNA1E_ENST00000367570.1_Missense_Mutation_p.V1176I|CACNA1E_ENST00000360108.3_Missense_Mutation_p.V1157I|CACNA1E_ENST00000367567.4_Missense_Mutation_p.V783I|CACNA1E_ENST00000367573.2_Missense_Mutation_p.V1176I|CACNA1E_ENST00000357570.5_Missense_Mutation_p.V1127I|CACNA1E_ENST00000358338.5_Missense_Mutation_p.V1108I	p.V1157I	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN			22	3634	+			1176					B1AM12|B1AM13|B1AM14|Q14580|Q14581	Missense_Mutation	SNP	ENST00000367573.2	37	c.3469G>A	CCDS55664.1	.	.	.	.	.	.	.	.	.	.	G	34	5.380647	0.95945	.	.	ENSG00000198216	ENST00000367570;ENST00000526775;ENST00000357570;ENST00000358338;ENST00000367567;ENST00000360108;ENST00000367573	D;D;D;D;D;D;D	0.97404	-4.37;-4.37;-4.37;-4.37;-4.37;-4.37;-4.37	5.58	5.58	0.84498	.	0.000000	0.64402	D	0.000003	D	0.97318	0.9123	L	0.35288	1.05	0.80722	D	1	P;D;D	0.71674	0.769;0.975;0.998	B;P;D	0.73708	0.341;0.48;0.981	D	0.97823	1.0258	10	0.51188	T	0.08	.	19.1775	0.93609	0.0:0.0:1.0:0.0	.	1157;1176;1176	Q15878-2;Q15878;Q15878-3	.;CAC1E_HUMAN;.	I	1176;1157;1127;1108;783;1157;1176	ENSP00000356542:V1176I;ENSP00000434814:V1157I;ENSP00000350183:V1127I;ENSP00000351101:V1108I;ENSP00000356539:V783I;ENSP00000353222:V1157I;ENSP00000356545:V1176I	ENSP00000350183:V1127I	V	+	1	0	CACNA1E	179973387	1.000000	0.71417	0.930000	0.37139	0.963000	0.63663	9.668000	0.98619	2.614000	0.88457	0.555000	0.69702	GTC		0.617	CACNA1E-003	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090793.2	NM_000721		32	40	0	0	0	1	0	32	40					A	181706764	G	A	181706764	3	1	435	1	0	0	0	0	1	0	0	0	2542	1145	40	1	3616	1	CACNA1E	1	181706764	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	20426	181706764	67543857	745	21670											
ZNF648	127665	broad.mit.edu	37	chr1	182027061	182027061	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	actctctaagttcatgctcaGcatctgggtgtcatgagctt	8	14	9	10	0	5	1	3	1	2	0	6	1	5	1	0	1	3	4	0	1	1	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:182027061G>A	ENST00000339948.3	-	2	292	c.85C>T	c.(85-87)Ctg>Ttg	p.L29L		NM_001009992.1	NP_001009992.1	Q5T619	ZN648_HUMAN	zinc finger protein 648	29					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(7)|large_intestine(10)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	40						TTCATGCTCAGCATCTGGGTG	0.587																																					NSCLC(71;908 1374 5429 20458 35642)	ENST00000339948.3																			0				breast(1)|endometrium(7)|large_intestine(10)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	40						c.(85-87)Ctg>Ttg		zinc finger protein 648							91	84	86					1																	182027061		2203	4300	6503	SO:0001819	synonymous_variant	127665				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:182027061G>A	AK128654	CCDS30952.1	1q25.3	2013-01-08			ENSG00000179930	ENSG00000179930		"Zinc fingers, C2H2-type"	18190	protein-coding gene	gene with protein product							Standard	NM_001009992		Approved	FLJ46813	uc001goz.3	Q5T619	OTTHUMG00000037302	ENST00000339948.3:c.85C>T	1.37:g.182027061G>A							p.L29L	NM_001009992.1	NP_001009992.1	Q5T619	ZN648_HUMAN			2	292	-			29					B2RP16	Silent	SNP	ENST00000339948.3	37	c.85C>T	CCDS30952.1																																																																																				0.587	ZNF648-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090794.1	XM_060597		24	40	0	0	0	1	0	24	40					A	182027061	G	A	182027061	2	1	435	1	0	0	0	0	0	0	0	1	18060	962	34	3		3	ZNF648	1	182027061	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	320297	182027061	67223560	746	21671											
RNASEL	6041	broad.mit.edu	37	chr1	182555276	182555276	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccatggtccagcagcagatgCgtaatagcctccacatcact	11	8	8	14	1	1	1	1	0	0	1	3	1	3	1	4	1	4	3	4	1	2	2	rs141997272	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:182555276C>T	ENST00000367559.3	-	2	919	c.666G>A	c.(664-666)acG>acA	p.T222T	RNASEL_ENST00000539397.1_Silent_p.T222T|RNASEL_ENST00000444138.1_Silent_p.T222T	NM_021133.3	NP_066956.1	Q05823	RN5A_HUMAN	ribonuclease L (2',5'-oligoisoadenylate synthetase-dependent)	222					cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|mRNA processing (GO:0006397)|negative regulation of viral genome replication (GO:0045071)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|rRNA processing (GO:0006364)|type I interferon signaling pathway (GO:0060337)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nuclear matrix (GO:0016363)	ATP binding (GO:0005524)|endoribonuclease activity (GO:0004521)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|RNA binding (GO:0003723)|rRNA binding (GO:0019843)			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(9)|ovary(4)|prostate(1)|stomach(1)|urinary_tract(1)	27						GCAGCAGATGCGTAATAGCCT	0.527													C|||	8	0.00159744	0.0045	0.0029	5008	,	,		22460	0		0	False		,,,				2504	0					ENST00000367559.3																			0				NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(9)|ovary(4)|prostate(1)|stomach(1)|urinary_tract(1)	27						c.(664-666)acG>acA		ribonuclease L (2',5'-oligoisoadenylate synthetase-dependent)		C		17,4389	24.3+/-50.5	0,17,2186	86	79	81		666	-9.6	0	1	dbSNP_134	81	1,8599		0,1,4299	no	coding-synonymous	RNASEL	NM_021133.3		0,18,6485	TT,TC,CC		0.0116,0.3858,0.1384		222/742	182555276	18,12988	2203	4300	6503	SO:0001819	synonymous_variant	6041				mRNA processing|response to virus|type I interferon-mediated signaling pathway	mitochondrion	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|metal ion binding|protein kinase activity|RNA binding	g.chr1:182555276C>T	L10381	CCDS1347.1	1q25	2013-01-10			ENSG00000135828	ENSG00000135828	3.1.26.-	"Ankyrin repeat domain containing"	10050	protein-coding gene	gene with protein product		180435	"prostate cancer 1"	RNS4, PRCA1		7514564	Standard	NM_021133		Approved		uc009wxz.2	Q05823	OTTHUMG00000035213	ENST00000367559.3:c.666G>A	1.37:g.182555276C>T						RNASEL_ENST00000539397.1_Silent_p.T222T|RNASEL_ENST00000444138.1_Silent_p.T222T	p.T222T	NM_021133.3	NP_066956.1	Q05823	RN5A_HUMAN			2	919	-			222					Q5W0L2|Q6AI46	Silent	SNP	ENST00000367559.3	37	c.666G>A	CCDS1347.1																																																																																				0.527	RNASEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085189.1	NM_021133		19	30	0	0	0	1	0	19	30					T	182555276	C	T	182555276	2	4	435	1	0	0	0	0	0	0	0	1	13416	755	27	1		1	RNASEL	1	182555276	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	528215	182555276	66695345	747	21672											
RNASEL	6041	broad.mit.edu	37	chr1	182555596	182555596	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atcacactcattgacatctgCtcctttagaaaggaaaagtt	14	12	6	9	0	3	2	2	1	1	1	4	3	4	3	1	1	1	2	1	1	4	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:182555596C>T	ENST00000367559.3	-	2	599	c.346G>A	c.(346-348)Gca>Aca	p.A116T	RNASEL_ENST00000539397.1_Missense_Mutation_p.A116T|RNASEL_ENST00000444138.1_Missense_Mutation_p.A116T	NM_021133.3	NP_066956.1	Q05823	RN5A_HUMAN	ribonuclease L (2',5'-oligoisoadenylate synthetase-dependent)	116					cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|mRNA processing (GO:0006397)|negative regulation of viral genome replication (GO:0045071)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|rRNA processing (GO:0006364)|type I interferon signaling pathway (GO:0060337)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nuclear matrix (GO:0016363)	ATP binding (GO:0005524)|endoribonuclease activity (GO:0004521)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|RNA binding (GO:0003723)|rRNA binding (GO:0019843)			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(9)|ovary(4)|prostate(1)|stomach(1)|urinary_tract(1)	27						TTGACATCTGCTCCTTTAGAA	0.478																																						ENST00000367559.3																			0				NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(9)|ovary(4)|prostate(1)|stomach(1)|urinary_tract(1)	27						c.(346-348)Gca>Aca		ribonuclease L (2',5'-oligoisoadenylate synthetase-dependent)							53	53	53					1																	182555596		2203	4300	6503	SO:0001583	missense	6041				mRNA processing|response to virus|type I interferon-mediated signaling pathway	mitochondrion	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|metal ion binding|protein kinase activity|RNA binding	g.chr1:182555596C>T	L10381	CCDS1347.1	1q25	2013-01-10			ENSG00000135828	ENSG00000135828	3.1.26.-	"Ankyrin repeat domain containing"	10050	protein-coding gene	gene with protein product		180435	"prostate cancer 1"	RNS4, PRCA1		7514564	Standard	NM_021133		Approved		uc009wxz.2	Q05823	OTTHUMG00000035213	ENST00000367559.3:c.346G>A	1.37:g.182555596C>T	ENSP00000356530:p.Ala116Thr					RNASEL_ENST00000539397.1_Missense_Mutation_p.A116T|RNASEL_ENST00000444138.1_Missense_Mutation_p.A116T	p.A116T	NM_021133.3	NP_066956.1	Q05823	RN5A_HUMAN			2	599	-			116					Q5W0L2|Q6AI46	Missense_Mutation	SNP	ENST00000367559.3	37	c.346G>A	CCDS1347.1	.	.	.	.	.	.	.	.	.	.	C	13.08	2.128924	0.37533	.	.	ENSG00000135828	ENST00000367559;ENST00000444138;ENST00000539397	T;T;T	0.80824	-1.42;-1.42;-1.42	4.56	1.25	0.21368	Ankyrin repeat-containing domain (3);	0.551980	0.16674	N	0.204252	T	0.80623	0.4658	M	0.89658	3.05	0.09310	N	1	B;B;B	0.30741	0.293;0.293;0.293	B;B;B	0.28553	0.091;0.091;0.091	T	0.71461	-0.4586	10	0.49607	T	0.09	-6.886	7.7065	0.28653	0.4789:0.4294:0.0:0.0916	.	116;116;116	Q5W0L2;Q6AI46;Q05823	.;.;RN5A_HUMAN	T	116	ENSP00000356530:A116T;ENSP00000411147:A116T;ENSP00000440844:A116T	ENSP00000356530:A116T	A	-	1	0	RNASEL	180822219	0.006000	0.16342	0.001000	0.08648	0.074000	0.17049	0.513000	0.22770	0.083000	0.17047	0.467000	0.42956	GCA		0.478	RNASEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085189.1	NM_021133		14	18	0	0	0	1	0	14	18					T	182555596	C	T	182555596	3	4	435	1	0	0	0	0	1	0	0	0	13416	797	28	3	1903	3	RNASEL	1	182555596	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	320	182555596	66695025	748	21673											
SMG7	9887	broad.mit.edu	37	chr1	183510217	183510217	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cttgatctctataggcaaatGgattgctgataatcagccaa	13	12	8	8	0	2	2	1	2	1	0	3	3	2	3	1	2	2	2	1	2	5	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:183510217G>T	ENST00000347615.2	+	13	1513	c.1394G>T	c.(1393-1395)tGg>tTg	p.W465L	SMG7_ENST00000508461.1_Missense_Mutation_p.W423L|SMG7_ENST00000367537.3_Missense_Mutation_p.W494L|SMG7_ENST00000507469.1_Missense_Mutation_p.W465L|SMG7_ENST00000515829.2_Missense_Mutation_p.W465L|SMG7_ENST00000456731.2_Missense_Mutation_p.W423L	NM_173156.2	NP_775179.1	Q92540	SMG7_HUMAN	SMG7 nonsense mediated mRNA decay factor	465					gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of dephosphorylation (GO:0035303)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)	protein phosphatase 2A binding (GO:0051721)			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(16)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						ATAGGCAAATGGATTGCTGAT	0.473																																						ENST00000367537.3																			0				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(16)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						c.(1480-1482)tGg>tTg		SMG7 nonsense mediated mRNA decay factor							184	173	176					1																	183510217		2203	4300	6503	SO:0001583	missense	9887				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation	cytoplasm|intermediate filament cytoskeleton|nucleus	protein phosphatase 2A binding	g.chr1:183510217G>T	D87437	CCDS1355.1, CCDS41445.1, CCDS41445.2, CCDS53444.1, CCDS53445.1	1q25	2013-07-02	2013-07-02	2006-02-16	ENSG00000116698	ENSG00000116698			16792	protein-coding gene	gene with protein product	"EST1 telomerase component homolog C (S. cerevisiae)"	610964	"chromosome 1 open reading frame 16", "smg-7 homolog, nonsense mediated mRNA decay factor (C. elegans)"	C1orf16		14636577, 15721257	Standard	NM_173156		Approved	KIAA0250, EST1C, SGA56M, SMG-7	uc001gqf.3	Q92540	OTTHUMG00000035221	ENST00000347615.2:c.1394G>T	1.37:g.183510217G>T	ENSP00000340766:p.Trp465Leu					SMG7_ENST00000347615.2_Missense_Mutation_p.W465L|SMG7_ENST00000515829.2_Missense_Mutation_p.W465L|SMG7_ENST00000507469.1_Missense_Mutation_p.W465L|SMG7_ENST00000508461.1_Missense_Mutation_p.W423L|SMG7_ENST00000456731.2_Missense_Mutation_p.W423L	p.W494L			Q92540	SMG7_HUMAN			14	1676	+			465					B4DRB2|E9PCI0|E9PEH2|Q5T1Q0|Q6PIE0|Q7Z7H9|Q8IXC1|Q8IXC2	Missense_Mutation	SNP	ENST00000347615.2	37	c.1481G>T	CCDS1355.1	.	.	.	.	.	.	.	.	.	.	G	26.7	4.765108	0.90020	.	.	ENSG00000116698	ENST00000456731;ENST00000367537;ENST00000508461;ENST00000419169;ENST00000347615;ENST00000507469;ENST00000515829	T;T;T;T;T;T;T	0.15372	2.43;2.43;2.43;2.43;2.43;2.43;2.43	5.57	5.57	0.84162	.	0.235349	0.47093	D	0.000249	T	0.23171	0.0560	N	0.24115	0.695	0.80722	D	1	P;P;P;D;P;P	0.56035	0.956;0.956;0.956;0.974;0.956;0.956	P;P;P;P;P;P	0.56788	0.644;0.644;0.644;0.806;0.644;0.644	T	0.02797	-1.1109	10	0.11794	T	0.64	-4.1352	19.563	0.95380	0.0:0.0:1.0:0.0	.	423;494;423;465;465;465	E9PCI0;E9PD50;E9PCE5;Q92540-2;Q92540;E9PEH2	.;.;.;.;SMG7_HUMAN;.	L	423;494;423;423;465;465;465	ENSP00000407629:W423L;ENSP00000356507:W494L;ENSP00000426915:W423L;ENSP00000388390:W423L;ENSP00000340766:W465L;ENSP00000425133:W465L;ENSP00000421358:W465L	ENSP00000340766:W465L	W	+	2	0	SMG7	181776840	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	6.977000	0.76141	2.619000	0.88677	0.650000	0.86243	TGG		0.473	SMG7-002	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000085432.1	NM_014837		66	81	1	0	1.77791e-30	1	1.99291e-30	66	81					T	183510217	G	T	183510217	3	4	435	1	0	0	0	0	1	0	0	0	14798	1357	47	5	1444	5	SMG7	1	183510217	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	954621	183510217	65740404	749	21674											
RGL1	23179	broad.mit.edu	37	chr1	183853014	183853014	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	acgtgcttctcagaagatctCgtggcagagcagctgaccta	10	9	11	11	2	2	4	1	1	2	3	4	4	2	4	1	1	3	4	1	1	2	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:183853014C>T	ENST00000360851.3	+	6	883	c.705C>T	c.(703-705)ctC>ctT	p.L235L	RGL1_ENST00000539189.1_Silent_p.L235L|RGL1_ENST00000304685.4_Silent_p.L270L|RGL1_ENST00000536277.1_Silent_p.L233L			Q9NZL6	RGL1_HUMAN	ral guanine nucleotide dissociation stimulator-like 1	235	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				cellular lipid metabolic process (GO:0044255)|positive regulation of Ral GTPase activity (GO:0032852)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	Ral guanyl-nucleotide exchange factor activity (GO:0008321)			breast(5)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(17)|ovary(4)|prostate(3)|stomach(1)	51						CAGAAGATCTCGTGGCAGAGC	0.507																																						ENST00000304685.3																			0				breast(5)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(17)|ovary(4)|prostate(3)|stomach(1)	51						c.(808-810)ctC>ctT		ral guanine nucleotide dissociation stimulator-like 1							172	146	155					1																	183853014		2203	4300	6503	SO:0001819	synonymous_variant	23179				cellular lipid metabolic process|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	protein binding|Ral guanyl-nucleotide exchange factor activity	g.chr1:183853014C>T	AF186780	CCDS1359.1, CCDS72992.1	1q25.2	2008-02-05			ENSG00000143344	ENSG00000143344			30281	protein-coding gene	gene with protein product		605667				10760592, 10231032	Standard	XM_005245010		Approved	RGL	uc001gqm.3	Q9NZL6	OTTHUMG00000035328	ENST00000360851.3:c.705C>T	1.37:g.183853014C>T						RGL1_ENST00000360851.3_Silent_p.L235L|RGL1_ENST00000539189.1_Silent_p.L235L|RGL1_ENST00000536277.1_Silent_p.L233L|RGL1_ENST00000367531.1_Silent_p.L270L	p.L270L	NM_015149.3	NP_055964.3	Q9NZL6	RGL1_HUMAN			7	1271	+			235			Ras-GEF.		Q5SXQ2|Q5SXQ6|Q9HBY3|Q9HBY4|Q9NZL5|Q9UG43|Q9Y2G6	Silent	SNP	ENST00000360851.3	37	c.810C>T																																																																																					0.507	RGL1-002	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000085742.1	NM_015149		9	68	0	0	0	1	0	9	68					T	183853014	C	T	183853014	2	4	435	1	0	0	0	0	0	0	0	1	13276	871	31	2		2	RGL1	1	183853014	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	342797	183853014	65397607	750	21675											
RGL1	23179	broad.mit.edu	37	chr1	183861295	183861295	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agccgagaactactgatgaaGgtgaggctcttagtgaggct	11	9	14	7	1	1	5	0	4	1	1	1	6	1	5	1	3	3	2	1	3	4	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:183861295G>T	ENST00000360851.3	+	9	1318	c.1140G>T	c.(1138-1140)aaG>aaT	p.K380N	RGL1_ENST00000539189.1_Splice_Site_p.K380N|RGL1_ENST00000304685.4_Splice_Site_p.K415N|RGL1_ENST00000536277.1_Splice_Site_p.K378N			Q9NZL6	RGL1_HUMAN	ral guanine nucleotide dissociation stimulator-like 1	380	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				cellular lipid metabolic process (GO:0044255)|positive regulation of Ral GTPase activity (GO:0032852)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	Ral guanyl-nucleotide exchange factor activity (GO:0008321)			breast(5)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(17)|ovary(4)|prostate(3)|stomach(1)	51						TACTGATGAAGGTGAGGCTCT	0.433																																						ENST00000304685.3																			0				breast(5)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(17)|ovary(4)|prostate(3)|stomach(1)	51						c.e10+1		ral guanine nucleotide dissociation stimulator-like 1							77	72	74					1																	183861295		2203	4299	6502	SO:0001630	splice_region_variant	23179				cellular lipid metabolic process|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	protein binding|Ral guanyl-nucleotide exchange factor activity	g.chr1:183861295G>T	AF186780	CCDS1359.1, CCDS72992.1	1q25.2	2008-02-05			ENSG00000143344	ENSG00000143344			30281	protein-coding gene	gene with protein product		605667				10760592, 10231032	Standard	XM_005245010		Approved	RGL	uc001gqm.3	Q9NZL6	OTTHUMG00000035328	ENST00000360851.3:c.1140+1G>T	1.37:g.183861295G>T						RGL1_ENST00000360851.3_Splice_Site_p.K380_splice|RGL1_ENST00000539189.1_Splice_Site_p.K380_splice|RGL1_ENST00000536277.1_Splice_Site_p.K378_splice|RGL1_ENST00000367531.1_Splice_Site_p.K415_splice	p.K415_splice	NM_015149.3	NP_055964.3	Q9NZL6	RGL1_HUMAN			10	1706	+			380			Ras-GEF.		Q5SXQ2|Q5SXQ6|Q9HBY3|Q9HBY4|Q9NZL5|Q9UG43|Q9Y2G6	Splice_Site	SNP	ENST00000360851.3	37	c.1245_splice		.	.	.	.	.	.	.	.	.	.	G	35	5.419925	0.96111	.	.	ENSG00000143344	ENST00000304685;ENST00000367531;ENST00000536277;ENST00000543395;ENST00000360851;ENST00000539189	T;T;T;T;T	0.52295	0.67;0.67;0.69;0.69;1.71	5.26	5.26	0.73747	Guanine-nucleotide dissociation stimulator CDC25 (4);Ras guanine nucleotide exchange factor, domain (1);	0.180500	0.50627	D	0.000114	T	0.66713	0.2817	M	0.70595	2.14	0.80722	D	1	P;D;P;P;D	0.63046	0.944;0.992;0.749;0.922;0.992	P;P;B;P;P	0.61070	0.714;0.883;0.373;0.636;0.812	T	0.70208	-0.4935	10	0.66056	D	0.02	.	18.8536	0.92242	0.0:0.0:1.0:0.0	.	380;378;185;380;415	F5H6U6;B7Z2W5;F5H3C3;Q9NZL6;Q5SXQ6	.;.;.;RGL1_HUMAN;.	N	415;415;378;185;380;380	ENSP00000303192:K415N;ENSP00000356501:K415N;ENSP00000438662:K378N;ENSP00000354097:K380N;ENSP00000437355:K380N	ENSP00000303192:K415N	K	+	3	2	RGL1	182127918	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.487000	0.97945	2.431000	0.82371	0.563000	0.77884	AAG		0.433	RGL1-002	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000085742.1	NM_015149	Missense_Mutation	5	30	1	0	2.7689e-08	1	2.91998e-08	5	30					T	183861295	G	T	183861295	5	4	435	1	0	0	0	0	0	0	1	0	13276	1014	35	5	1279	5	RGL1	1	183861295	Splice_Site	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	8281	183861295	65389326	751	21676											
GLT25D2	23127	broad.mit.edu	37	chr1	183938608	183938608	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggggtcctcttatagaagccCtgtaaaagagcaaataggtg	13	9	12	7	0	1	2	0	0	1	2	2	2	2	2	2	3	2	2	2	3	7	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:183938608C>A	ENST00000361927.4	-	5	999		c.e5-1		COLGALT2_ENST00000546159.1_Splice_Site	NM_015101.2	NP_055916.1	Q8IYK4	GT252_HUMAN	collagen beta(1-O)galactosyltransferase 2						extracellular matrix organization (GO:0030198)|lipopolysaccharide biosynthetic process (GO:0009103)	endoplasmic reticulum lumen (GO:0005788)	procollagen galactosyltransferase activity (GO:0050211)										TATAGAAGCCCTGTAAAAGAG	0.458																																						ENST00000361927.4																			0											c.e5-1		collagen beta(1-O)galactosyltransferase 2							62	67	66					1																	183938608		2203	4300	6503	SO:0001630	splice_region_variant	23127							g.chr1:183938608C>A	AF288389	CCDS1360.1	1q25	2013-02-27	2013-02-27	2013-02-27	ENSG00000198756	ENSG00000198756			16790	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 17", "glycosyltransferase 25 domain containing 2"	C1orf17, GLT25D2		19075007	Standard	XM_005245008		Approved	KIAA0584	uc001gqr.3	Q8IYK4	OTTHUMG00000035460	ENST00000361927.4:c.628-1G>T	1.37:g.183938608C>A						COLGALT2_ENST00000546159.1_Splice_Site		NM_015101.2	NP_055916.1					5	999	-								O60327|Q9BZR0	Splice_Site	SNP	ENST00000361927.4	37		CCDS1360.1	.	.	.	.	.	.	.	.	.	.	C	25.3	4.625884	0.87560	.	.	ENSG00000198756	ENST00000546159;ENST00000361927	.	.	.	5.7	5.7	0.88788	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.8248	0.96612	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	GLT25D2	182205231	1.000000	0.71417	1.000000	0.80357	0.897000	0.52465	7.486000	0.81215	2.681000	0.91329	0.591000	0.81541	.		0.458	COLGALT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086128.1	NM_015101	Intron	9	18	1	0	3.09899e-07	1	3.24337e-07	9	18					A	183938608	C	A	183938608	5	1	435	1	0	0	0	0	0	0	1	0	6467	695	24	5	1285	5	GLT25D2	1	183938608	Splice_Site	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	77313	183938608	65312013	752	21677											
EDEM3	80267	broad.mit.edu	37	chr1	184675822	184675822	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	agcattctggatgttgcgtgCcttttctgcaaacatgcact	8	14	9	10	1	2	0	0	0	2	0	2	1	2	1	1	1	6	4	1	1	1	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:184675822C>T	ENST00000318130.8	-	18	2424	c.2158G>A	c.(2158-2160)Gca>Aca	p.A720T	EDEM3_ENST00000466392.1_5'UTR|EDEM3_ENST00000367512.3_Missense_Mutation_p.A677T	NM_025191.3	NP_079467.3	Q9BZQ6	EDEM3_HUMAN	ER degradation enhancer, mannosidase alpha-like 3	720	PA.				cellular protein metabolic process (GO:0044267)|glycoprotein catabolic process (GO:0006516)|post-translational protein modification (GO:0043687)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)|response to unfolded protein (GO:0006986)	endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)	calcium ion binding (GO:0005509)|glycoprotein endo-alpha-1,2-mannosidase activity (GO:0004569)|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity (GO:0004571)			breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						ATGTTGCGTGCCTTTTCTGCA	0.428																																						ENST00000318130.8																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						c.(2158-2160)Gca>Aca		ER degradation enhancer, mannosidase alpha-like 3							176	124	142					1																	184675822		2203	4300	6503	SO:0001583	missense	80267				post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|response to unfolded protein	endoplasmic reticulum lumen|endoplasmic reticulum membrane	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity|misfolded protein binding	g.chr1:184675822C>T	AF288393	CCDS1363.2	1q25	2008-02-05	2006-03-31	2006-03-31	ENSG00000116406	ENSG00000116406			16787	protein-coding gene	gene with protein product		610214	"chromosome 1 open reading frame 22"	C1orf22		15537790, 15579471	Standard	NM_025191		Approved		uc010pok.2	Q9BZQ6	OTTHUMG00000035387	ENST00000318130.8:c.2158G>A	1.37:g.184675822C>T	ENSP00000318147:p.Ala720Thr					EDEM3_ENST00000367512.3_Missense_Mutation_p.A677T|EDEM3_ENST00000466392.1_5'UTR	p.A720T	NM_025191.3	NP_079467.3	Q9BZQ6	EDEM3_HUMAN			18	2424	-			720			PA.		B2RCH6|B7ZLZ2|Q0VGM5|Q5TEZ0|Q9HCW1|Q9UFV7	Missense_Mutation	SNP	ENST00000318130.8	37	c.2158G>A	CCDS1363.2	.	.	.	.	.	.	.	.	.	.	C	36	5.689152	0.96784	.	.	ENSG00000116406	ENST00000318130;ENST00000367512	T;T	0.08370	3.1;3.1	5.79	5.79	0.91817	Protease-associated domain, PA (1);	0.000000	0.85682	D	0.000000	T	0.28599	0.0708	L	0.59967	1.855	0.80722	D	1	D	0.76494	0.999	D	0.79108	0.992	T	0.00136	-1.2006	10	0.72032	D	0.01	.	20.04	0.97581	0.0:1.0:0.0:0.0	.	720	Q9BZQ6	EDEM3_HUMAN	T	720;677	ENSP00000318147:A720T;ENSP00000356482:A677T	ENSP00000318147:A720T	A	-	1	0	EDEM3	182942445	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.711000	0.84669	2.733000	0.93635	0.655000	0.94253	GCA		0.428	EDEM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085785.3	NM_025191		22	21	0	0	0	1	0	22	21					T	184675822	C	T	184675822	3	4	435	1	0	0	0	0	1	0	0	0	4913	739	26	3	652	3	EDEM3	1	184675822	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	737214	184675822	64574799	753	21678											
EDEM3	80267	broad.mit.edu	37	chr1	184692925	184692925	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtatgaatatttatagtcacGcccactaaattactacttcg	13	14	5	9	2	1	1	1	1	0	0	2	1	1	1	1	0	2	1	1	0	9	9			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:184692925G>A	ENST00000318130.8	-	8	1079	c.813C>T	c.(811-813)ggC>ggT	p.G271G	EDEM3_ENST00000367512.3_Silent_p.G228G	NM_025191.3	NP_079467.3	Q9BZQ6	EDEM3_HUMAN	ER degradation enhancer, mannosidase alpha-like 3	271					cellular protein metabolic process (GO:0044267)|glycoprotein catabolic process (GO:0006516)|post-translational protein modification (GO:0043687)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)|response to unfolded protein (GO:0006986)	endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)	calcium ion binding (GO:0005509)|glycoprotein endo-alpha-1,2-mannosidase activity (GO:0004569)|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity (GO:0004571)			breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						TTATAGTCACGCCCACTAAAT	0.323																																						ENST00000318130.8																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						c.(811-813)ggC>ggT		ER degradation enhancer, mannosidase alpha-like 3							95	102	100					1																	184692925		2202	4297	6499	SO:0001819	synonymous_variant	80267				post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|response to unfolded protein	endoplasmic reticulum lumen|endoplasmic reticulum membrane	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity|misfolded protein binding	g.chr1:184692925G>A	AF288393	CCDS1363.2	1q25	2008-02-05	2006-03-31	2006-03-31	ENSG00000116406	ENSG00000116406			16787	protein-coding gene	gene with protein product		610214	"chromosome 1 open reading frame 22"	C1orf22		15537790, 15579471	Standard	NM_025191		Approved		uc010pok.2	Q9BZQ6	OTTHUMG00000035387	ENST00000318130.8:c.813C>T	1.37:g.184692925G>A						EDEM3_ENST00000367512.3_Silent_p.G228G	p.G271G	NM_025191.3	NP_079467.3	Q9BZQ6	EDEM3_HUMAN			8	1079	-			271					B2RCH6|B7ZLZ2|Q0VGM5|Q5TEZ0|Q9HCW1|Q9UFV7	Silent	SNP	ENST00000318130.8	37	c.813C>T	CCDS1363.2																																																																																				0.323	EDEM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085785.3	NM_025191		36	48	0	0	0	1	0	36	48					A	184692925	G	A	184692925	2	1	435	1	0	0	0	0	0	0	0	1	4913	1074	38	1		1	EDEM3	1	184692925	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	17103	184692925	64557696	754	21679											
EDEM3	80267	broad.mit.edu	37	chr1	184695464	184695464	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtacctgcacaagctgtacaGgtatctgtctcagttcctgt	8	13	9	11	0	2	0	1	0	2	0	4	0	3	0	2	1	4	6	2	1	4	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:184695464G>T	ENST00000318130.8	-	7	938	c.672C>A	c.(670-672)acC>acA	p.T224T	EDEM3_ENST00000367512.3_Silent_p.T181T	NM_025191.3	NP_079467.3	Q9BZQ6	EDEM3_HUMAN	ER degradation enhancer, mannosidase alpha-like 3	224					cellular protein metabolic process (GO:0044267)|glycoprotein catabolic process (GO:0006516)|post-translational protein modification (GO:0043687)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)|response to unfolded protein (GO:0006986)	endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)	calcium ion binding (GO:0005509)|glycoprotein endo-alpha-1,2-mannosidase activity (GO:0004569)|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity (GO:0004571)			breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						AAGCTGTACAGGTATCTGTCT	0.373																																						ENST00000318130.8																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						c.(670-672)acC>acA		ER degradation enhancer, mannosidase alpha-like 3							103	101	102					1																	184695464		2203	4300	6503	SO:0001819	synonymous_variant	80267				post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|response to unfolded protein	endoplasmic reticulum lumen|endoplasmic reticulum membrane	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity|misfolded protein binding	g.chr1:184695464G>T	AF288393	CCDS1363.2	1q25	2008-02-05	2006-03-31	2006-03-31	ENSG00000116406	ENSG00000116406			16787	protein-coding gene	gene with protein product		610214	"chromosome 1 open reading frame 22"	C1orf22		15537790, 15579471	Standard	NM_025191		Approved		uc010pok.2	Q9BZQ6	OTTHUMG00000035387	ENST00000318130.8:c.672C>A	1.37:g.184695464G>T						EDEM3_ENST00000367512.3_Silent_p.T181T	p.T224T	NM_025191.3	NP_079467.3	Q9BZQ6	EDEM3_HUMAN			7	938	-			224					B2RCH6|B7ZLZ2|Q0VGM5|Q5TEZ0|Q9HCW1|Q9UFV7	Silent	SNP	ENST00000318130.8	37	c.672C>A	CCDS1363.2																																																																																				0.373	EDEM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085785.3	NM_025191		31	46	1	0	3.1745e-13	1	3.44526e-13	31	46					T	184695464	G	T	184695464	2	4	435	1	0	0	0	0	0	0	0	1	4913	987	35	5		5	EDEM3	1	184695464	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	2539	184695464	64555157	755	21680											
FAM129A	116496	broad.mit.edu	37	chr1	184772813	184772813	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctttcggatggtgctgctgTcataatcatattgctgtcaa	8	16	9	8	1	4	0	3	0	1	0	5	1	4	1	0	2	3	3	0	2	3	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:184772813T>C	ENST00000367511.3	-	12	1653	c.1460A>G	c.(1459-1461)gAc>gGc	p.D487G	FAM129A_ENST00000487074.1_5'UTR	NM_052966.2	NP_443198.1	Q9BZQ8	NIBAN_HUMAN	family with sequence similarity 129, member A	487					negative regulation of protein phosphorylation (GO:0001933)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of translation (GO:0045727)|response to endoplasmic reticulum stress (GO:0034976)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(6)|liver(1)|lung(22)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	45						GGTGCTGCTGTCATAATCATA	0.398																																						ENST00000367511.3																			0				autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(6)|liver(1)|lung(22)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	45						c.(1459-1461)gAc>gGc		family with sequence similarity 129, member A							204	183	190					1																	184772813		2203	4300	6503	SO:0001583	missense	116496				negative regulation of protein phosphorylation|positive regulation of protein phosphorylation|positive regulation of translation|response to endoplasmic reticulum stress	cytoplasm|nucleus|plasma membrane		g.chr1:184772813T>C	AF288391	CCDS1364.1	1q25	2008-10-08	2006-11-23	2006-11-23	ENSG00000135842	ENSG00000135842			16784	protein-coding gene	gene with protein product	"cell growth inhibiting protein 39"		"chromosome 1 open reading frame 24"	C1orf24		15085203, 16444351	Standard	NM_052966		Approved	NIBAN, GIG39	uc001gra.4	Q9BZQ8	OTTHUMG00000035388	ENST00000367511.3:c.1460A>G	1.37:g.184772813T>C	ENSP00000356481:p.Asp487Gly					FAM129A_ENST00000487074.1_5'UTR	p.D487G	NM_052966.2	NP_443198.1	Q9BZQ8	NIBAN_HUMAN			12	1653	-			487					Q2TTR2|Q5TEM8|Q8TEI5|Q9H593|Q9H9Y8|Q9HCB9	Missense_Mutation	SNP	ENST00000367511.3	37	c.1460A>G	CCDS1364.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	21.9|21.9	4.211574|4.211574	0.79240|0.79240	.|.	.|.	ENSG00000135842|ENSG00000135842	ENST00000367511|ENST00000417056	T|.	0.58060|.	0.36|.	5.33|5.33	5.33|5.33	0.75918|0.75918	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.75087|.	0.3802|.	M|M	0.79123|0.79123	2.44|2.44	0.53005|0.53005	D|D	0.999969|0.999969	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.87578|.	0.998;0.998|.	T|.	0.76677|.	-0.2871|.	10|.	0.87932|.	D|.	0|.	-35.0598|-35.0598	13.8735|13.8735	0.63634|0.63634	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	18;487|.	Q5TEY9;Q9BZQ8|.	.;NIBAN_HUMAN|.	G|W	487|18	ENSP00000356481:D487G|.	ENSP00000356481:D487G|.	D|X	-|-	2|3	0|0	FAM129A|FAM129A	183039436|183039436	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	6.613000|6.613000	0.74192|0.74192	2.015000|2.015000	0.59207|0.59207	0.533000|0.533000	0.62120|0.62120	GAC|TGA		0.398	FAM129A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085786.1			27	45	0	0	0	1	0	27	45					C	184772813	T	C	184772813	3	2	435	1	0	0	0	0	1	0	0	0	5436	1667	58	4	1338	4	FAM129A	1	184772813	Missense_Mutation	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	77349	184772813	64477808	756	21681											
FAM129A	116496	broad.mit.edu	37	chr1	184775093	184775093	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttttacctttaagactcggAgtttaaccttctcaatggca	10	15	7	9	1	1	1	1	0	1	1	3	2	1	2	2	2	2	3	2	2	4	7			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:184775093A>G	ENST00000367511.3	-	11	1626	c.1433T>C	c.(1432-1434)cTc>cCc	p.L478P	FAM129A_ENST00000487074.1_5'UTR	NM_052966.2	NP_443198.1	Q9BZQ8	NIBAN_HUMAN	family with sequence similarity 129, member A	478					negative regulation of protein phosphorylation (GO:0001933)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of translation (GO:0045727)|response to endoplasmic reticulum stress (GO:0034976)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(6)|liver(1)|lung(22)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	45						TAAGACTCGGAGTTTAACCTT	0.428											OREG0014050	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000367511.3																			0				autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(6)|liver(1)|lung(22)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	45						c.(1432-1434)cTc>cCc		family with sequence similarity 129, member A							88	79	82					1																	184775093		2203	4300	6503	SO:0001583	missense	116496				negative regulation of protein phosphorylation|positive regulation of protein phosphorylation|positive regulation of translation|response to endoplasmic reticulum stress	cytoplasm|nucleus|plasma membrane		g.chr1:184775093A>G	AF288391	CCDS1364.1	1q25	2008-10-08	2006-11-23	2006-11-23	ENSG00000135842	ENSG00000135842			16784	protein-coding gene	gene with protein product	"cell growth inhibiting protein 39"		"chromosome 1 open reading frame 24"	C1orf24		15085203, 16444351	Standard	NM_052966		Approved	NIBAN, GIG39	uc001gra.4	Q9BZQ8	OTTHUMG00000035388	ENST00000367511.3:c.1433T>C	1.37:g.184775093A>G	ENSP00000356481:p.Leu478Pro		OREG0014050	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1994	FAM129A_ENST00000487074.1_5'UTR	p.L478P	NM_052966.2	NP_443198.1	Q9BZQ8	NIBAN_HUMAN			11	1626	-			478					Q2TTR2|Q5TEM8|Q8TEI5|Q9H593|Q9H9Y8|Q9HCB9	Missense_Mutation	SNP	ENST00000367511.3	37	c.1433T>C	CCDS1364.1	.	.	.	.	.	.	.	.	.	.	A	12.22	1.872472	0.33069	.	.	ENSG00000135842	ENST00000367511	T	0.10668	2.85	4.94	3.74	0.42951	.	0.669254	0.15471	N	0.260600	T	0.21761	0.0524	L	0.50333	1.59	0.58432	D	0.999994	P;D	0.67145	0.95;0.996	P;D	0.65010	0.735;0.931	T	0.00907	-1.1519	10	0.30854	T	0.27	-12.7857	9.8068	0.40797	0.7543:0.0:0.0:0.2456	.	9;478	Q5TEY9;Q9BZQ8	.;NIBAN_HUMAN	P	478	ENSP00000356481:L478P	ENSP00000356481:L478P	L	-	2	0	FAM129A	183041716	1.000000	0.71417	0.999000	0.59377	0.973000	0.67179	2.282000	0.43461	1.978000	0.57642	0.482000	0.46254	CTC		0.428	FAM129A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085786.1			5	24	0	0	0	1	0	5	24					G	184775093	A	G	184775093	3	3	435	1	0	0	0	0	1	0	0	0	5436	304	11	4	1369	4	FAM129A	1	184775093	Missense_Mutation	SNP	A	TCGA-XK-AAIW-01A-11D-A41K-08	2280	184775093	64475528	757	21682											
C1orf26	54823	broad.mit.edu	37	chr1	185259918	185259918	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggggatggtgtgaagacatgCtcaactataggatataagta	14	10	13	4	0	1	2	1	1	0	1	1	4	1	4	0	4	2	2	0	4	7	5	rs140708949		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:185259918C>T	ENST00000367500.4	+	19	2851	c.2686C>T	c.(2686-2688)Ctc>Ttc	p.L896F	SWT1_ENST00000367501.3_Missense_Mutation_p.L896F	NM_017673.6	NP_060143.4	Q5T5J6	SWT1_HUMAN	SWT1 RNA endoribonuclease homolog (S. cerevisiae)	896										breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(16)|ovary(1)|prostate(1)|urinary_tract(1)	41						TGAAGACATGCTCAACTATAG	0.408																																						ENST00000367500.4																			0				breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(16)|ovary(1)|prostate(1)|urinary_tract(1)	41						c.(2686-2688)Ctc>Ttc		SWT1 RNA endoribonuclease homolog (S. cerevisiae)		C	PHE/LEU,PHE/LEU	1,4405	2.1+/-5.4	0,1,2202	88	86	87		2686,2686	4.8	0	1	dbSNP_134	87	0,8600		0,0,4300	no	missense,missense	SWT1	NM_001105518.1,NM_017673.6	22,22	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging,probably-damaging	896/901,896/901	185259918	1,13005	2203	4300	6503	SO:0001583	missense	54823							g.chr1:185259918C>T	AF288392	CCDS1367.1	1q25	2013-08-29	2011-01-24	2011-01-24	ENSG00000116668	ENSG00000116668			16785	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 26"	C1orf26		11318611, 19127978, 23768067	Standard	NM_017673		Approved	FLJ20121, HsSwt1	uc001grg.4	Q5T5J6	OTTHUMG00000035390	ENST00000367500.4:c.2686C>T	1.37:g.185259918C>T	ENSP00000356470:p.Leu896Phe					SWT1_ENST00000367501.3_Missense_Mutation_p.L896F	p.L896F	NM_017673.6	NP_060143.4	Q5T5J6	SWT1_HUMAN			19	2851	+			896					Q8NEK9|Q9BZQ7|Q9NXQ0	Missense_Mutation	SNP	ENST00000367500.4	37	c.2686C>T	CCDS1367.1	.	.	.	.	.	.	.	.	.	.	C	9.694	1.152615	0.21371	2.27E-4	0.0	ENSG00000116668	ENST00000367501;ENST00000367500	T;T	0.32515	1.45;1.45	5.67	4.76	0.60689	.	0.242952	0.29383	N	0.012318	T	0.22898	0.0553	L	0.27053	0.805	0.28657	N	0.90633	B	0.29508	0.246	B	0.26094	0.066	T	0.18053	-1.0349	10	0.87932	D	0	.	12.7208	0.57142	0.0:0.9244:0.0:0.0756	.	896	Q5T5J6	SWT1_HUMAN	F	896	ENSP00000356471:L896F;ENSP00000356470:L896F	ENSP00000356470:L896F	L	+	1	0	SWT1	183526541	0.000000	0.05858	0.019000	0.16419	0.074000	0.17049	-0.041000	0.12084	1.390000	0.46547	0.655000	0.94253	CTC		0.408	SWT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085790.1	NM_017673		13	22	0	0	0	1	0	13	22					T	185259918	C	T	185259918	3	4	435	1	0	0	0	0	1	0	0	0	2035	797	28	3	2756	3	C1orf26	1	185259918	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	484825	185259918	63990703	758	21683											
IVNS1ABP	10625	broad.mit.edu	37	chr1	185269591	185269591	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgagtacagccatttgaaatCgggctcttggtgttctcatg	8	14	11	8	1	2	2	1	2	2	0	4	2	2	2	1	2	2	3	1	2	2	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:185269591C>T	ENST00000367498.3	-	11	1842	c.1220G>A	c.(1219-1221)cGa>cAa	p.R407Q	IVNS1ABP_ENST00000392007.3_Missense_Mutation_p.R189Q|IVNS1ABP_ENST00000459929.1_5'UTR	NM_006469.4	NP_006460.2	Q9Y6Y0	NS1BP_HUMAN	influenza virus NS1A binding protein	407					negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|response to virus (GO:0009615)|RNA splicing (GO:0008380)|transcription from RNA polymerase III promoter (GO:0006383)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|spliceosomal complex (GO:0005681)|transcription factor complex (GO:0005667)				breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|ovary(4)|prostate(2)	29						CATTTGAAATCGGGCTCTTGG	0.438																																						ENST00000367498.3																			0				breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|ovary(4)|prostate(2)	29						c.(1219-1221)cGa>cAa		influenza virus NS1A binding protein							119	123	122					1																	185269591		2203	4300	6503	SO:0001583	missense	10625				interspecies interaction between organisms|response to virus|RNA splicing|transcription from RNA polymerase III promoter	cytoplasm|cytoskeleton|spliceosomal complex|transcription factor complex		g.chr1:185269591C>T	AB020657	CCDS1368.1	1q25.1-q31.1	2013-01-30			ENSG00000116679	ENSG00000116679		"Kelch-like", "BTB/POZ domain containing"	16951	protein-coding gene	gene with protein product	"kelch-like family member 39"	609209				9696811, 10048485	Standard	NM_006469		Approved	NS1-BP, HSPC068, NS-1, KIAA0850, ND1, KLHL39	uc001grl.3	Q9Y6Y0	OTTHUMG00000035384	ENST00000367498.3:c.1220G>A	1.37:g.185269591C>T	ENSP00000356468:p.Arg407Gln					IVNS1ABP_ENST00000459929.1_5'UTR|IVNS1ABP_ENST00000392007.3_Missense_Mutation_p.R189Q	p.R407Q	NM_006469.4	NP_006460.2	Q9Y6Y0	NS1BP_HUMAN			11	1842	-			407					A8K8R6|Q1G4T6|Q1G4T7|Q5TF75|Q6NW38|Q7LCG2|Q9NZX0|Q9Y480	Missense_Mutation	SNP	ENST00000367498.3	37	c.1220G>A	CCDS1368.1	.	.	.	.	.	.	.	.	.	.	C	35	5.532011	0.96446	.	.	ENSG00000116679	ENST00000367498;ENST00000392007	T;T	0.78003	-1.14;-1.14	5.76	5.76	0.90799	Galactose oxidase, beta-propeller (1);	0.000000	0.85682	D	0.000000	D	0.85256	0.5655	L	0.45285	1.41	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.97110	1.0;0.994;0.998	D	0.84809	0.0789	10	0.52906	T	0.07	.	19.9857	0.97347	0.0:1.0:0.0:0.0	.	189;108;407	A8MVR0;Q6MZF3;Q9Y6Y0	.;.;NS1BP_HUMAN	Q	407;189	ENSP00000356468:R407Q;ENSP00000375864:R189Q	ENSP00000356468:R407Q	R	-	2	0	IVNS1ABP	183536214	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.679000	0.84048	2.706000	0.92434	0.655000	0.94253	CGA		0.438	IVNS1ABP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085774.1	NM_006469		30	65	0	0	0	1	0	30	65					T	185269591	C	T	185269591	3	4	435	1	0	0	0	0	1	0	0	0	7930	884	31	2	728	2	IVNS1ABP	1	185269591	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	9673	185269591	63981030	759	21684											
HMCN1	83872	broad.mit.edu	37	chr1	185894194	185894194	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cctagatgctcccaaagttaCgatgcctgagaaaaccccag	13	7	8	13	1	0	2	0	1	0	2	1	4	1	2	5	0	4	2	5	0	5	2	rs369085610		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:185894194C>T	ENST00000271588.4	+	9	1530	c.1301C>T	c.(1300-1302)aCg>aTg	p.T434M	HMCN1_ENST00000367492.2_Missense_Mutation_p.T434M	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	434	Ig-like C2-type 1.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						CCCAAAGTTACGATGCCTGAG	0.403																																						ENST00000271588.4																			0				NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						c.(1300-1302)aCg>aTg		hemicentin 1		C	MET/THR	0,4406		0,0,2203	79	73	75		1301	5	1	1		75	1,8599	1.2+/-3.3	0,1,4299	no	missense	HMCN1	NM_031935.2	81	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	434/5636	185894194	1,13005	2203	4300	6503	SO:0001583	missense	83872				response to stimulus|visual perception	basement membrane	calcium ion binding	g.chr1:185894194C>T	AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"Fibulins", "Immunoglobulin superfamily / I-set domain containing"	19194	protein-coding gene	gene with protein product	"fibulin 6"	608548	"age-related macular degeneration 1 (senile macular degeneration)"	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.1301C>T	1.37:g.185894194C>T	ENSP00000271588:p.Thr434Met					HMCN1_ENST00000367492.2_Missense_Mutation_p.T434M	p.T434M	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN			9	1530	+			434			Ig-like C2-type 1.		A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Missense_Mutation	SNP	ENST00000271588.4	37	c.1301C>T	CCDS30956.1	.	.	.	.	.	.	.	.	.	.	C	16.77	3.214292	0.58452	0.0	1.16E-4	ENSG00000143341	ENST00000271588;ENST00000367492	T;T	0.65549	-0.15;-0.16	5.89	4.99	0.66335	Immunoglobulin-like (1);	0.433013	0.26390	N	0.024656	T	0.57607	0.2065	L	0.46157	1.445	0.29890	N	0.825309	P	0.48998	0.918	P	0.45276	0.475	T	0.59568	-0.7430	10	0.39692	T	0.17	.	11.2529	0.49037	0.0:0.8042:0.1276:0.0683	.	434	Q96RW7	HMCN1_HUMAN	M	434	ENSP00000271588:T434M;ENSP00000356462:T434M	ENSP00000271588:T434M	T	+	2	0	HMCN1	184160817	0.949000	0.32298	0.997000	0.53966	0.991000	0.79684	0.663000	0.25053	1.506000	0.48736	0.655000	0.94253	ACG		0.403	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935		13	9	0	0	0	1	0	13	9					T	185894194	C	T	185894194	3	4	435	1	0	0	0	0	1	0	0	0	7220	536	19	1	1335	1	HMCN1	1	185894194	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	624603	185894194	63356427	760	21685											
HMCN1	83872	broad.mit.edu	37	chr1	186143767	186143767	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tctcaaggagttggaagaccCtgcatgggtaagttaatagg	12	10	13	6	0	1	1	1	0	1	1	2	3	1	3	1	4	1	4	1	4	5	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:186143767C>A	ENST00000271588.4	+	103	16165	c.15936C>A	c.(15934-15936)ccC>ccA	p.P5312P	GS1-174L6.4_ENST00000428391.1_RNA|HMCN1_ENST00000367492.2_Silent_p.P5312P	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	5312					response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						TTGGAAGACCCTGCATGGGTA	0.443																																						ENST00000271588.4																			0				NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						c.(15934-15936)ccC>ccA		hemicentin 1							145	120	129					1																	186143767		2203	4300	6503	SO:0001819	synonymous_variant	83872				response to stimulus|visual perception	basement membrane	calcium ion binding	g.chr1:186143767C>A	AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"Fibulins", "Immunoglobulin superfamily / I-set domain containing"	19194	protein-coding gene	gene with protein product	"fibulin 6"	608548	"age-related macular degeneration 1 (senile macular degeneration)"	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.15936C>A	1.37:g.186143767C>A						HMCN1_ENST00000367492.2_Silent_p.P5312P	p.P5312P	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN			103	16165	+			5312					A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Silent	SNP	ENST00000271588.4	37	c.15936C>A	CCDS30956.1																																																																																				0.443	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935		18	18	1	0	2.37509e-13	1	2.57931e-13	18	18					A	186143767	C	A	186143767	2	1	435	1	0	0	0	0	0	0	0	1	7220	668	24	5		5	HMCN1	1	186143767	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	249573	186143767	63106854	761	21686											
PRG4	10216	broad.mit.edu	37	chr1	186276233	186276233	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cactcccaaggagcctacacCcaccactcccaaggagcctg	11	4	7	19	0	0	0	0	0	0	0	2	2	2	2	6	2	3	0	6	2	3	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:186276233C>T	ENST00000445192.2	+	7	1427	c.1382C>T	c.(1381-1383)cCc>cTc	p.P461L	PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367483.4_Missense_Mutation_p.P420L|PRG4_ENST00000367486.3_Missense_Mutation_p.P418L|PRG4_ENST00000367485.4_Missense_Mutation_p.P368L	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	461	59 X 8 AA repeats of K-X-P-X-P-T-T-X.				cell proliferation (GO:0008283)|hematopoietic stem cell proliferation (GO:0071425)|immune response (GO:0006955)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|regulation of cell proliferation (GO:0042127)	extracellular space (GO:0005615)	polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						GAGCCTACACCCACCACTCCC	0.657																																						ENST00000445192.2																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						c.(1381-1383)cCc>cTc		proteoglycan 4							88	97	94					1																	186276233		2203	4298	6501	SO:0001583	missense	10216				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity	g.chr1:186276233C>T	U70136	CCDS1369.1, CCDS44287.1, CCDS44288.1	1q25-q31	2008-07-18	2004-11-15		ENSG00000116690	ENSG00000116690			9364	protein-coding gene	gene with protein product	"lubricin", "megakaryocyte stimulating factor", "articular superficial zone protein", "Jacobs camptodactyly-arthropathy-pericarditis syndrome", "camptodactyly, arthropathy, coxa vara, pericarditis syndrome", "bG174L6.2 (MSF: megakaryocyte stimulating factor )"	604283	"proteoglycan 4, (megakaryocyte stimulating factor, articular superficial zone protein, camptodactyly, arthropathy, coxa vara, pericarditis syndrome)"	CACP		10545950, 9920774	Standard	NM_005807		Approved	JCAP, SZP, MSF, HAPO, bG174L6.2, FLJ32635	uc001gru.4	Q92954	OTTHUMG00000035574	ENST00000445192.2:c.1382C>T	1.37:g.186276233C>T	ENSP00000399679:p.Pro461Leu					PRG4_ENST00000367483.4_Missense_Mutation_p.P420L|PRG4_ENST00000367486.3_Missense_Mutation_p.P418L|PRG4_ENST00000367485.4_Missense_Mutation_p.P368L|PRG4_ENST00000367484.3_Intron	p.P461L	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN			7	1427	+			461			59 X 8 AA repeats of K-X-P-X-P-T-T-X.		Q6DNC4|Q6DNC5|Q6ZMZ5|Q9BX49	Missense_Mutation	SNP	ENST00000445192.2	37	c.1382C>T	CCDS1369.1	.	.	.	.	.	.	.	.	.	.	-	8.443	0.851365	0.17034	.	.	ENSG00000116690	ENST00000367486;ENST00000367482;ENST00000367483;ENST00000367485;ENST00000445192	T;T;T;T	0.08896	3.04;3.1;3.05;3.14	3.89	1.83	0.25207	.	0.780634	0.10495	U	0.667968	T	0.08537	0.0212	L	0.60455	1.87	0.21933	N	0.999469	B;B;B;B	0.18013	0.025;0.009;0.005;0.009	B;B;B;B	0.15052	0.012;0.007;0.003;0.007	T	0.39440	-0.9614	9	.	.	.	.	3.8107	0.08795	0.1656:0.5795:0.1611:0.0938	.	327;368;461;420	Q92954-4;Q92954-3;Q92954;Q92954-2	.;.;PRG4_HUMAN;.	L	418;327;420;368;461	ENSP00000356456:P418L;ENSP00000356453:P420L;ENSP00000356455:P368L;ENSP00000399679:P461L	.	P	+	2	0	PRG4	184542856	0.022000	0.18835	0.000000	0.03702	0.019000	0.09904	3.050000	0.49877	0.191000	0.20236	0.478000	0.44815	CCC		0.657	PRG4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000086346.1	NM_005807		22	32	0	0	0	1	0	22	32					T	186276233	C	T	186276233	3	4	435	1	0	0	0	0	1	0	0	0	12481	623	22	3	1404	3	PRG4	1	186276233	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	132466	186276233	62974388	762	21687											
TPR	7175	broad.mit.edu	37	chr1	186326648	186326648	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tttctgtaagatactagatgCtgtgatattacctcagatga	12	15	8	6	0	2	5	1	2	1	3	2	5	2	5	1	0	3	2	1	0	5	6			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:186326648C>A	ENST00000367478.4	-	14	1901	c.1605G>T	c.(1603-1605)caG>caT	p.Q535H	TPR_ENST00000474852.1_5'UTR	NM_003292.2	NP_003283.2	P12270	TPR_HUMAN	translocated promoter region, nuclear basket protein	535					carbohydrate metabolic process (GO:0005975)|cellular response to heat (GO:0034605)|cellular response to interferon-alpha (GO:0035457)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|MAPK import into nucleus (GO:0000189)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope disassembly (GO:0007077)|mitotic spindle assembly checkpoint (GO:0007094)|mRNA export from nucleus in response to heat stress (GO:0031990)|negative regulation of RNA export from nucleus (GO:0046832)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of translational initiation (GO:0045947)|nuclear pore organization (GO:0006999)|positive regulation of heterochromatin assembly (GO:0031453)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090267)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of protein import into nucleus (GO:0042307)|protein import into nucleus (GO:0006606)|regulation of glucose transport (GO:0010827)|regulation of mitotic sister chromatid separation (GO:0010965)|regulation of spindle assembly involved in mitosis (GO:1901673)|response to epidermal growth factor (GO:0070849)|RNA export from nucleus (GO:0006405)|RNA import into nucleus (GO:0006404)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoplasmic dynein complex (GO:0005868)|extrinsic component of membrane (GO:0019898)|kinetochore (GO:0000776)|mitotic spindle (GO:0072686)|nuclear envelope (GO:0005635)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|dynein complex binding (GO:0070840)|heat shock protein binding (GO:0031072)|mitogen-activated protein kinase binding (GO:0051019)|mRNA binding (GO:0003729)|nucleocytoplasmic transporter activity (GO:0005487)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|tubulin binding (GO:0015631)			autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(9)|kidney(12)|large_intestine(23)|liver(1)|lung(45)|ovary(2)|pancreas(1)|prostate(6)|skin(3)|stomach(1)|urinary_tract(8)	123		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)		ATACTAGATGCTGTGATATTA	0.403			T	NTRK1	papillary thyroid																																	ENST00000367478.3				Dom	yes		1	1q25	7175	T	translocated promoter region			E	NTRK1		papillary thyroid		0				autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(9)|kidney(12)|large_intestine(23)|liver(1)|lung(45)|ovary(2)|pancreas(1)|prostate(6)|skin(3)|stomach(1)|urinary_tract(8)	123						c.(1603-1605)caG>caT		translocated promoter region, nuclear basket protein							141	129	133					1																	186326648		1847	4097	5944	SO:0001583	missense	7175				carbohydrate metabolic process|glucose transport|mitotic cell cycle spindle assembly checkpoint|mRNA transport|protein import into nucleus|regulation of glucose transport|seryl-tRNA aminoacylation|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytoplasm|nuclear membrane|nuclear pore|nucleoplasm	ATP binding|protein binding|serine-tRNA ligase activity	g.chr1:186326648C>A	U69668	CCDS41446.1	1q25	2012-03-13	2012-03-13		ENSG00000047410	ENSG00000047410			12017	protein-coding gene	gene with protein product		189940	"translocated promoter region (to activated MET oncogene)"			1611909, 15229283	Standard	NM_003292		Approved		uc001grv.3	P12270	OTTHUMG00000035580	ENST00000367478.4:c.1605G>T	1.37:g.186326648C>A	ENSP00000356448:p.Gln535His					TPR_ENST00000474852.1_5'UTR	p.Q535H	NM_003292.2	NP_003283.2	P12270	TPR_HUMAN		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)	14	1901	-		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)	535					Q15655|Q5SWY0|Q99968	Missense_Mutation	SNP	ENST00000367478.4	37	c.1605G>T	CCDS41446.1	.	.	.	.	.	.	.	.	.	.	C	19.97	3.924691	0.73213	.	.	ENSG00000047410	ENST00000367478	T	0.25085	1.82	5.39	5.39	0.77823	.	0.164921	0.56097	D	0.000040	T	0.32734	0.0839	L	0.52759	1.655	0.47009	D	0.999285	P;D	0.61697	0.771;0.99	B;P	0.53593	0.404;0.73	T	0.05920	-1.0856	10	0.72032	D	0.01	.	7.3584	0.26731	0.0:0.7952:0.0:0.2048	.	535;535	Q15624;P12270	.;TPR_HUMAN	H	535	ENSP00000356448:Q535H	ENSP00000356448:Q535H	Q	-	3	2	TPR	184593271	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.785000	0.38684	2.685000	0.91497	0.591000	0.81541	CAG		0.403	TPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086353.2	NM_003292		33	44	1	0	1.22384e-17	1	1.34778e-17	33	44					A	186326648	C	A	186326648	3	1	435	1	0	0	0	0	1	0	0	0	16413	796	28	5	5638	5	TPR	1	186326648	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	50415	186326648	62923973	763	21688											
TPR	7175	broad.mit.edu	37	chr1	186332113	186332113	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgtagcaattccttttcttgCtccaagcgtttttctcgata	7	18	6	10	2	2	0	0	0	2	0	5	1	4	0	2	0	3	4	2	0	4	8			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:186332113C>T	ENST00000367478.4	-	6	848	c.552G>A	c.(550-552)gaG>gaA	p.E184E	TPR_ENST00000474852.1_5'UTR	NM_003292.2	NP_003283.2	P12270	TPR_HUMAN	translocated promoter region, nuclear basket protein	184					carbohydrate metabolic process (GO:0005975)|cellular response to heat (GO:0034605)|cellular response to interferon-alpha (GO:0035457)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|MAPK import into nucleus (GO:0000189)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope disassembly (GO:0007077)|mitotic spindle assembly checkpoint (GO:0007094)|mRNA export from nucleus in response to heat stress (GO:0031990)|negative regulation of RNA export from nucleus (GO:0046832)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of translational initiation (GO:0045947)|nuclear pore organization (GO:0006999)|positive regulation of heterochromatin assembly (GO:0031453)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090267)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of protein import into nucleus (GO:0042307)|protein import into nucleus (GO:0006606)|regulation of glucose transport (GO:0010827)|regulation of mitotic sister chromatid separation (GO:0010965)|regulation of spindle assembly involved in mitosis (GO:1901673)|response to epidermal growth factor (GO:0070849)|RNA export from nucleus (GO:0006405)|RNA import into nucleus (GO:0006404)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoplasmic dynein complex (GO:0005868)|extrinsic component of membrane (GO:0019898)|kinetochore (GO:0000776)|mitotic spindle (GO:0072686)|nuclear envelope (GO:0005635)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|dynein complex binding (GO:0070840)|heat shock protein binding (GO:0031072)|mitogen-activated protein kinase binding (GO:0051019)|mRNA binding (GO:0003729)|nucleocytoplasmic transporter activity (GO:0005487)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|tubulin binding (GO:0015631)			autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(9)|kidney(12)|large_intestine(23)|liver(1)|lung(45)|ovary(2)|pancreas(1)|prostate(6)|skin(3)|stomach(1)|urinary_tract(8)	123		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)		CCTTTTCTTGCTCCAAGCGTT	0.348			T	NTRK1	papillary thyroid																																	ENST00000367478.3				Dom	yes		1	1q25	7175	T	translocated promoter region			E	NTRK1		papillary thyroid		0				autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(9)|kidney(12)|large_intestine(23)|liver(1)|lung(45)|ovary(2)|pancreas(1)|prostate(6)|skin(3)|stomach(1)|urinary_tract(8)	123						c.(550-552)gaG>gaA		translocated promoter region, nuclear basket protein							77	65	68					1																	186332113		1808	4074	5882	SO:0001819	synonymous_variant	7175				carbohydrate metabolic process|glucose transport|mitotic cell cycle spindle assembly checkpoint|mRNA transport|protein import into nucleus|regulation of glucose transport|seryl-tRNA aminoacylation|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytoplasm|nuclear membrane|nuclear pore|nucleoplasm	ATP binding|protein binding|serine-tRNA ligase activity	g.chr1:186332113C>T	U69668	CCDS41446.1	1q25	2012-03-13	2012-03-13		ENSG00000047410	ENSG00000047410			12017	protein-coding gene	gene with protein product		189940	"translocated promoter region (to activated MET oncogene)"			1611909, 15229283	Standard	NM_003292		Approved		uc001grv.3	P12270	OTTHUMG00000035580	ENST00000367478.4:c.552G>A	1.37:g.186332113C>T						TPR_ENST00000474852.1_5'UTR	p.E184E	NM_003292.2	NP_003283.2	P12270	TPR_HUMAN		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)	6	848	-		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)	184					Q15655|Q5SWY0|Q99968	Silent	SNP	ENST00000367478.4	37	c.552G>A	CCDS41446.1																																																																																				0.348	TPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086353.2	NM_003292		12	18	0	0	0	1	0	12	18					T	186332113	C	T	186332113	2	4	435	1	0	0	0	0	0	0	0	1	16413	796	28	3		3	TPR	1	186332113	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	5465	186332113	62918508	764	21689											
PTGS2	5743	broad.mit.edu	37	chr1	186646006	186646006	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cttgaaaaggcgcagtttacGctgtctagccagagtttcac	10	11	10	10	2	2	2	1	1	1	1	2	2	2	2	1	1	2	4	1	1	4	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:186646006G>A	ENST00000367468.5	-	6	818	c.682C>T	c.(682-684)Cgt>Tgt	p.R228C	PTGS2_ENST00000490885.2_5'UTR	NM_000963.2	NP_000954.1	P35354	PGH2_HUMAN	prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase)	228			R -> H (in dbSNP:rs3218622). {ECO:0000269|Ref.6}.		anagen (GO:0042640)|angiogenesis (GO:0001525)|arachidonic acid metabolic process (GO:0019369)|bone mineralization (GO:0030282)|brown fat cell differentiation (GO:0050873)|cellular component movement (GO:0006928)|cellular response to ATP (GO:0071318)|cellular response to hypoxia (GO:0071456)|cellular response to mechanical stimulus (GO:0071260)|cellular response to UV (GO:0034644)|cyclooxygenase pathway (GO:0019371)|decidualization (GO:0046697)|embryo implantation (GO:0007566)|inflammatory response (GO:0006954)|learning (GO:0007612)|lipoxygenase pathway (GO:0019372)|maintenance of blood-brain barrier (GO:0035633)|memory (GO:0007613)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell proliferation (GO:0008285)|negative regulation of smooth muscle contraction (GO:0045986)|negative regulation of synaptic transmission, dopaminergic (GO:0032227)|ovulation (GO:0030728)|positive regulation of apoptotic process (GO:0043065)|positive regulation of brown fat cell differentiation (GO:0090336)|positive regulation of cell migration involved in sprouting angiogenesis (GO:0090050)|positive regulation of fever generation (GO:0031622)|positive regulation of fibroblast growth factor production (GO:0090271)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of platelet-derived growth factor production (GO:0090362)|positive regulation of prostaglandin biosynthetic process (GO:0031394)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of synaptic plasticity (GO:0031915)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transforming growth factor beta production (GO:0071636)|positive regulation of vasoconstriction (GO:0045907)|positive regulation vascular endothelial growth factor production (GO:0010575)|prostaglandin biosynthetic process (GO:0001516)|prostaglandin metabolic process (GO:0006693)|regulation of blood pressure (GO:0008217)|regulation of inflammatory response (GO:0050727)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to fatty acid (GO:0070542)|response to fructose (GO:0009750)|response to glucocorticoid (GO:0051384)|response to lipopolysaccharide (GO:0032496)|response to lithium ion (GO:0010226)|response to manganese ion (GO:0010042)|response to oxidative stress (GO:0006979)|response to tumor necrosis factor (GO:0034612)|response to vitamin D (GO:0033280)|sensory perception of pain (GO:0019233)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|neuron projection (GO:0043005)|nucleus (GO:0005634)|protein complex (GO:0043234)	arachidonate 15-lipoxygenase activity (GO:0050473)|enzyme binding (GO:0019899)|heme binding (GO:0020037)|lipid binding (GO:0008289)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)|prostaglandin-endoperoxide synthase activity (GO:0004666)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	27					Acetaminophen(DB00316)|Acetylsalicylic acid(DB00945)|Aldesleukin(DB00041)|Aminosalicylic Acid(DB00233)|Antipyrine(DB01435)|Antrafenine(DB01419)|Balsalazide(DB01014)|Bromfenac(DB00963)|Bumetanide(DB00887)|Carprofen(DB00821)|Celecoxib(DB00482)|Chlorphenesin(DB00856)|Cisplatin(DB00515)|Clodronate(DB00720)|Dapsone(DB00250)|Desmopressin(DB00035)|Diclofenac(DB00586)|Diflunisal(DB00861)|Dihomo-gamma-linolenic acid(DB00154)|Drospirenone(DB01395)|Etanercept(DB00005)|Etodolac(DB00749)|Etoposide(DB00773)|Etoricoxib(DB01628)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|Ginseng(DB01404)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lenalidomide(DB00480)|Lornoxicam(DB06725)|Lumiracoxib(DB01283)|Magnesium salicylate(DB01397)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mesalazine(DB00244)|Nabumetone(DB00461)|Naproxen(DB00788)|Nepafenac(DB06802)|Niflumic Acid(DB04552)|Nonoxynol-9(DB06804)|Oxaprozin(DB00991)|Phenylbutazone(DB00812)|Piroxicam(DB00554)|Pomalidomide(DB08910)|Risedronate(DB00884)|Salicylate-sodium(DB01398)|Salicylic acid(DB00936)|Salsalate(DB01399)|Sulfasalazine(DB00795)|Sulindac(DB00605)|Suprofen(DB00870)|Tafluprost(DB08819)|Tenoxicam(DB00469)|Tetrahydrobiopterin(DB00360)|Thalidomide(DB01041)|Tiaprofenic acid(DB01600)|Tolmetin(DB00500)|Triamcinolone(DB00620)|Trisalicylate-choline(DB01401)	CGCAGTTTACGCTGTCTAGCC	0.308																																						ENST00000367468.5																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	27						c.(682-684)Cgt>Tgt		prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase)	Acetaminophen(DB00316)|Aspirin(DB00945)|Balsalazide(DB01014)|Bromfenac(DB00963)|Carprofen(DB00821)|Celecoxib(DB00482)|Ciclopirox(DB01188)|Diclofenac(DB00586)|Diflunisal(DB00861)|Epoprostenol(DB01240)|Etodolac(DB00749)|Etoricoxib(DB01628)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|gamma-Homolinolenic acid(DB00154)|Ginseng(DB01404)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lenalidomide(DB00480)|Lumiracoxib(DB01283)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mesalazine(DB00244)|Nabumetone(DB00461)|Naproxen(DB00788)|Oxaprozin(DB00991)|Phenylbutazone(DB00812)|Rofecoxib(DB00533)|Salicyclic acid(DB00936)|Salsalate(DB01399)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Thalidomide(DB01041)|Tiaprofenic acid(DB01600)|Tolmetin(DB00500)|Valdecoxib(DB00580)						132	148	143					1																	186646006		2203	4299	6502	SO:0001583	missense	5743				cellular component movement|cyclooxygenase pathway|hormone biosynthetic process|positive regulation of brown fat cell differentiation|positive regulation of cell migration involved in sprouting angiogenesis|positive regulation of fever generation|positive regulation of fibroblast growth factor production|positive regulation of nitric oxide biosynthetic process|positive regulation of platelet-derived growth factor production|positive regulation of prostaglandin biosynthetic process|positive regulation of transforming growth factor-beta production|positive regulation vascular endothelial growth factor production|regulation of blood pressure|response to oxidative stress|xenobiotic metabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|microsome|neuron projection|nucleus	enzyme binding|heme binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peroxidase activity|prostaglandin-endoperoxide synthase activity	g.chr1:186646006G>A	D28235	CCDS1371.1	1q25.2-q25.3	2008-02-05			ENSG00000073756	ENSG00000073756	1.14.99.1		9605	protein-coding gene	gene with protein product		600262				1380156	Standard	NM_000963		Approved	COX2	uc001gsb.3	P35354	OTTHUMG00000035473	ENST00000367468.5:c.682C>T	1.37:g.186646006G>A	ENSP00000356438:p.Arg228Cys					PTGS2_ENST00000490885.2_5'UTR	p.R228C	NM_000963.2	NP_000954.1	P35354	PGH2_HUMAN			6	818	-			228		R -> H (in dbSNP:rs3218622).			A8K802|Q16876	Missense_Mutation	SNP	ENST00000367468.5	37	c.682C>T	CCDS1371.1	.	.	.	.	.	.	.	.	.	.	G	25.0	4.597529	0.87055	.	.	ENSG00000073756	ENST00000367468	T	0.70516	-0.49	5.51	5.51	0.81932	.	0.139327	0.64402	D	0.000004	T	0.72236	0.3435	L	0.34521	1.04	0.26906	N	0.967016	P;P	0.45283	0.855;0.844	B;P	0.53062	0.088;0.717	T	0.68750	-0.5326	10	0.72032	D	0.01	-21.3273	15.0873	0.72165	0.0:0.0:0.8578:0.1422	.	228;228	Q8IZA9;P35354	.;PGH2_HUMAN	C	228	ENSP00000356438:R228C	ENSP00000356438:R228C	R	-	1	0	PTGS2	184912629	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	4.431000	0.59915	2.586000	0.87340	0.650000	0.86243	CGT		0.308	PTGS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086157.2	NM_000963		52	96	0	0	0	1	0	52	96					A	186646006	G	A	186646006	3	1	435	1	0	0	0	0	1	0	0	0	12756	1087	38	1	1152	1	PTGS2	1	186646006	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	313893	186646006	62604615	765	21690											
PTGS2	5743	broad.mit.edu	37	chr1	186648454	186648454	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caaccaaaggacaaacttacGtgttgagcagttttctccat	13	11	7	10	1	1	1	0	1	1	0	2	2	1	2	2	1	4	3	2	1	4	4	rs373745396		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:186648454G>A	ENST00000367468.5	-	2	305	c.169C>T	c.(169-171)Ccg>Tcg	p.P57S	RP5-973M2.2_ENST00000608917.1_lincRNA|PTGS2_ENST00000490885.2_5'UTR	NM_000963.2	NP_000954.1	P35354	PGH2_HUMAN	prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase)	57					anagen (GO:0042640)|angiogenesis (GO:0001525)|arachidonic acid metabolic process (GO:0019369)|bone mineralization (GO:0030282)|brown fat cell differentiation (GO:0050873)|cellular component movement (GO:0006928)|cellular response to ATP (GO:0071318)|cellular response to hypoxia (GO:0071456)|cellular response to mechanical stimulus (GO:0071260)|cellular response to UV (GO:0034644)|cyclooxygenase pathway (GO:0019371)|decidualization (GO:0046697)|embryo implantation (GO:0007566)|inflammatory response (GO:0006954)|learning (GO:0007612)|lipoxygenase pathway (GO:0019372)|maintenance of blood-brain barrier (GO:0035633)|memory (GO:0007613)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell proliferation (GO:0008285)|negative regulation of smooth muscle contraction (GO:0045986)|negative regulation of synaptic transmission, dopaminergic (GO:0032227)|ovulation (GO:0030728)|positive regulation of apoptotic process (GO:0043065)|positive regulation of brown fat cell differentiation (GO:0090336)|positive regulation of cell migration involved in sprouting angiogenesis (GO:0090050)|positive regulation of fever generation (GO:0031622)|positive regulation of fibroblast growth factor production (GO:0090271)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of platelet-derived growth factor production (GO:0090362)|positive regulation of prostaglandin biosynthetic process (GO:0031394)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of synaptic plasticity (GO:0031915)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transforming growth factor beta production (GO:0071636)|positive regulation of vasoconstriction (GO:0045907)|positive regulation vascular endothelial growth factor production (GO:0010575)|prostaglandin biosynthetic process (GO:0001516)|prostaglandin metabolic process (GO:0006693)|regulation of blood pressure (GO:0008217)|regulation of inflammatory response (GO:0050727)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to fatty acid (GO:0070542)|response to fructose (GO:0009750)|response to glucocorticoid (GO:0051384)|response to lipopolysaccharide (GO:0032496)|response to lithium ion (GO:0010226)|response to manganese ion (GO:0010042)|response to oxidative stress (GO:0006979)|response to tumor necrosis factor (GO:0034612)|response to vitamin D (GO:0033280)|sensory perception of pain (GO:0019233)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|neuron projection (GO:0043005)|nucleus (GO:0005634)|protein complex (GO:0043234)	arachidonate 15-lipoxygenase activity (GO:0050473)|enzyme binding (GO:0019899)|heme binding (GO:0020037)|lipid binding (GO:0008289)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)|prostaglandin-endoperoxide synthase activity (GO:0004666)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	27					Acetaminophen(DB00316)|Acetylsalicylic acid(DB00945)|Aldesleukin(DB00041)|Aminosalicylic Acid(DB00233)|Antipyrine(DB01435)|Antrafenine(DB01419)|Balsalazide(DB01014)|Bromfenac(DB00963)|Bumetanide(DB00887)|Carprofen(DB00821)|Celecoxib(DB00482)|Chlorphenesin(DB00856)|Cisplatin(DB00515)|Clodronate(DB00720)|Dapsone(DB00250)|Desmopressin(DB00035)|Diclofenac(DB00586)|Diflunisal(DB00861)|Dihomo-gamma-linolenic acid(DB00154)|Drospirenone(DB01395)|Etanercept(DB00005)|Etodolac(DB00749)|Etoposide(DB00773)|Etoricoxib(DB01628)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|Ginseng(DB01404)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lenalidomide(DB00480)|Lornoxicam(DB06725)|Lumiracoxib(DB01283)|Magnesium salicylate(DB01397)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mesalazine(DB00244)|Nabumetone(DB00461)|Naproxen(DB00788)|Nepafenac(DB06802)|Niflumic Acid(DB04552)|Nonoxynol-9(DB06804)|Oxaprozin(DB00991)|Phenylbutazone(DB00812)|Piroxicam(DB00554)|Pomalidomide(DB08910)|Risedronate(DB00884)|Salicylate-sodium(DB01398)|Salicylic acid(DB00936)|Salsalate(DB01399)|Sulfasalazine(DB00795)|Sulindac(DB00605)|Suprofen(DB00870)|Tafluprost(DB08819)|Tenoxicam(DB00469)|Tetrahydrobiopterin(DB00360)|Thalidomide(DB01041)|Tiaprofenic acid(DB01600)|Tolmetin(DB00500)|Triamcinolone(DB00620)|Trisalicylate-choline(DB01401)	ACAAACTTACGTGTTGAGCAG	0.433																																						ENST00000367468.5																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	27						c.e2+1		prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase)	Acetaminophen(DB00316)|Aspirin(DB00945)|Balsalazide(DB01014)|Bromfenac(DB00963)|Carprofen(DB00821)|Celecoxib(DB00482)|Ciclopirox(DB01188)|Diclofenac(DB00586)|Diflunisal(DB00861)|Epoprostenol(DB01240)|Etodolac(DB00749)|Etoricoxib(DB01628)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|gamma-Homolinolenic acid(DB00154)|Ginseng(DB01404)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lenalidomide(DB00480)|Lumiracoxib(DB01283)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mesalazine(DB00244)|Nabumetone(DB00461)|Naproxen(DB00788)|Oxaprozin(DB00991)|Phenylbutazone(DB00812)|Rofecoxib(DB00533)|Salicyclic acid(DB00936)|Salsalate(DB01399)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Thalidomide(DB01041)|Tiaprofenic acid(DB01600)|Tolmetin(DB00500)|Valdecoxib(DB00580)	G	SER/PRO	0,4406		0,0,2203	135	113	120		169	5.3	1	1		120	1,8599	1.2+/-3.3	0,1,4299	no	missense-near-splice	PTGS2	NM_000963.2	74	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	57/605	186648454	1,13005	2203	4300	6503	SO:0001630	splice_region_variant	5743				cellular component movement|cyclooxygenase pathway|hormone biosynthetic process|positive regulation of brown fat cell differentiation|positive regulation of cell migration involved in sprouting angiogenesis|positive regulation of fever generation|positive regulation of fibroblast growth factor production|positive regulation of nitric oxide biosynthetic process|positive regulation of platelet-derived growth factor production|positive regulation of prostaglandin biosynthetic process|positive regulation of transforming growth factor-beta production|positive regulation vascular endothelial growth factor production|regulation of blood pressure|response to oxidative stress|xenobiotic metabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|microsome|neuron projection|nucleus	enzyme binding|heme binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peroxidase activity|prostaglandin-endoperoxide synthase activity	g.chr1:186648454G>A	D28235	CCDS1371.1	1q25.2-q25.3	2008-02-05			ENSG00000073756	ENSG00000073756	1.14.99.1		9605	protein-coding gene	gene with protein product		600262				1380156	Standard	NM_000963		Approved	COX2	uc001gsb.3	P35354	OTTHUMG00000035473	ENST00000367468.5:c.169+1C>T	1.37:g.186648454G>A						PTGS2_ENST00000490885.2_5'UTR	p.P57_splice	NM_000963.2	NP_000954.1	P35354	PGH2_HUMAN			2	305	-			57					A8K802|Q16876	Splice_Site	SNP	ENST00000367468.5	37	c.169_splice	CCDS1371.1	.	.	.	.	.	.	.	.	.	.	G	32	5.106189	0.94292	0.0	1.16E-4	ENSG00000073756	ENST00000367468	T	0.73152	-0.72	5.27	5.27	0.74061	.	0.000000	0.85682	D	0.000000	T	0.70684	0.3252	L	0.55743	1.74	0.80722	D	1	D	0.55605	0.972	P	0.45167	0.472	T	0.71666	-0.4524	9	.	.	.	-16.5824	18.5108	0.90916	0.0:0.0:1.0:0.0	.	57	P35354	PGH2_HUMAN	S	57	ENSP00000356438:P57S	.	P	-	1	0	PTGS2	184915077	1.000000	0.71417	0.999000	0.59377	0.975000	0.68041	7.749000	0.85096	2.444000	0.82710	0.655000	0.94253	CCG		0.433	PTGS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086157.2	NM_000963	Missense_Mutation	19	23	0	0	0	1	0	19	23					A	186648454	G	A	186648454	5	1	435	1	0	0	0	0	0	0	1	0	12756	1159	40	1	1681	1	PTGS2	1	186648454	Splice_Site	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	2448	186648454	62602167	766	21691											
PLA2G4A	5321	broad.mit.edu	37	chr1	186934587	186934588	+	Frame_Shift_Ins	INS	-	-	A																															agcctctggatgtcaaaagtINSaaaaagattcatgtagtgga																										TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:186934587_186934588insA	ENST00000367466.3	+	15	1778_1779	c.1626_1627insA	c.(1627-1629)aaafs	p.K543fs	PLA2G4A_ENST00000442353.2_Frame_Shift_Ins_p.K483fs	NM_024420.2	NP_077734	P47712	PA24A_HUMAN	phospholipase A2, group IVA (cytosolic, calcium-dependent)	543	PLA2c. {ECO:0000255|PROSITE- ProRule:PRU00555}.				arachidonic acid metabolic process (GO:0019369)|arachidonic acid secretion (GO:0050482)|blood coagulation (GO:0007596)|cardiolipin acyl-chain remodeling (GO:0035965)|cellular response to antibiotic (GO:0071236)|glycerophospholipid biosynthetic process (GO:0046474)|icosanoid biosynthetic process (GO:0046456)|icosanoid metabolic process (GO:0006690)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid catabolic process (GO:0009395)|phospholipid metabolic process (GO:0006644)|platelet activating factor biosynthetic process (GO:0006663)|platelet activation (GO:0030168)|regulation of cell proliferation (GO:0042127)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|mitochondrial inner membrane (GO:0005743)	calcium ion binding (GO:0005509)|calcium-dependent phospholipase A2 activity (GO:0047498)|calcium-dependent phospholipid binding (GO:0005544)|lysophospholipase activity (GO:0004622)|phospholipase A2 activity (GO:0004623)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|prostate(3)|skin(4)|stomach(1)	53					Aldesleukin(DB00041)|Carbachol(DB00411)|Carbenicillin(DB00578)|Epirubicin(DB00445)|Fluocinolone Acetonide(DB00591)|Fluticasone Propionate(DB00588)|Niflumic Acid(DB04552)|Orlistat(DB01083)|Quinacrine(DB01103)|Streptokinase(DB00086)|Suramin(DB04786)	ATGTCAAAAGTAAAAAGATTCA	0.361																																						ENST00000367466.3																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|prostate(3)|skin(4)|stomach(1)	53						c.(1624-1629)agaaaafs		phospholipase A2, group IVA (cytosolic, calcium-dependent)	Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Medrysone(DB00253)|Quinacrine(DB01103)																																			SO:0001589	frameshift_variant	5321				phospholipid catabolic process|platelet activating factor biosynthetic process|platelet activation	cytosol|endoplasmic reticulum membrane	calcium ion binding|calcium-dependent phospholipid binding|lysophospholipase activity	g.chr1:186934587_186934588insA	M72393	CCDS1372.1	1q25	2014-09-17			ENSG00000116711	ENSG00000116711	3.1.1.4, 3.1.1.5		9035	protein-coding gene	gene with protein product		600522		PLA2G4		8175726	Standard	NM_024420		Approved	cPLA2-alpha	uc001gsc.3	P47712	OTTHUMG00000035512	ENST00000367466.3:c.1631dupA	1.37:g.186934592_186934592dupA	ENSP00000356436:p.Lys543fs					PLA2G4A_ENST00000442353.2_Frame_Shift_Ins_p.RK482fs	p.RK542fs	NM_024420.2	NP_077734.1	P47712	PA24A_HUMAN			15	1778_1779	+			542			PLA2c.		B1AKG4|Q29R80	Frame_Shift_Ins	INS	ENST00000367466.3	37	c.1626_1627insA	CCDS1372.1																																																																																				0.361	PLA2G4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086236.1	NM_024420		25	43						25	43	---	---	---	---	A	186934588	-	A	186934587	7	5	435	1	0	1	1	0	0	0	0	0	12001	1635	57	0	1680	0	PLA2G4A	1	186934587	Frame_Shift_Ins	INS	-	TCGA-XK-AAIW-01A-11D-A41K-08	286133	186934587	62316034	767	21692											
FAM5C	339479	broad.mit.edu	37	chr1	190068210	190068210	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaaaagctgcctaggaggccGttctcattgcagtagagaaa	13	8	12	8	1	1	1	1	0	1	1	2	4	1	2	2	2	3	4	2	2	5	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:190068210G>A	ENST00000367462.3	-	8	1470	c.1239C>T	c.(1237-1239)aaC>aaT	p.N413N	BRINP3_ENST00000534846.1_Silent_p.N311N	NM_199051.1	NP_950252.1	Q76B58	BRNP3_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 3	413					cell cycle arrest (GO:0007050)|cellular response to retinoic acid (GO:0071300)|negative regulation of mitotic cell cycle (GO:0045930)|positive regulation of neuron differentiation (GO:0045666)	dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)											CTAGGAGGCCGTTCTCATTGC	0.493																																						ENST00000367462.3																			0				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2)	164						c.(1237-1239)aaC>aaT									44	38	40					1																	190068210		2203	4300	6503	SO:0001819	synonymous_variant	0					extracellular region		g.chr1:190068210G>A	AB111893	CCDS1373.1	1q31.1	2013-09-18	2013-09-18	2013-09-18	ENSG00000162670	ENSG00000162670			22393	protein-coding gene	gene with protein product			"family with sequence similarity 5, member C"	FAM5C		16018821, 15193423	Standard	NM_199051		Approved	DBCCR1L, DBCCR1L1	uc001gse.1	Q76B58	OTTHUMG00000035533	ENST00000367462.3:c.1239C>T	1.37:g.190068210G>A						FAM5C_ENST00000484105.1_5'UTR|FAM5C_ENST00000534846.1_Silent_p.N311N	p.N413N	NM_199051.1	NP_950252.1	Q76B58	FAM5C_HUMAN			8	1470	-	Prostate(682;0.198)		413					B3KVP1|B7Z260|O95726|Q2M330	Silent	SNP	ENST00000367462.3	37	c.1239C>T	CCDS1373.1																																																																																				0.493	BRINP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086278.1	NM_199051		6	19	0	0	0	1	0	6	19					A	190068210	G	A	190068210	2	1	435	1	0	0	0	0	0	0	0	1	5594	1136	40	1		1	FAM5C	1	190068210	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	3133623	190068210	59182411	768	21693											
RGS18	64407	broad.mit.edu	37	chr1	192127877	192127877	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	agaagaaacaagcaaagaagCcaaaatcaggtaaaattgta	23	5	8	5	0	1	3	1	0	0	3	1	3	1	3	1	1	3	3	1	1	10	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:192127877C>T	ENST00000367460.3	+	1	291	c.110C>T	c.(109-111)gCc>gTc	p.A37V	RGS18_ENST00000481707.1_3'UTR	NM_130782.2	NP_570138.1	Q9NS28	RGS18_HUMAN	regulator of G-protein signaling 18	37					G-protein coupled receptor signaling pathway (GO:0007186)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)			kidney(1)|large_intestine(2)|lung(15)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						AGCAAAGAAGCCAAAATCAGG	0.284																																						ENST00000367460.3																			0				kidney(1)|large_intestine(2)|lung(15)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						c.(109-111)gCc>gTc		regulator of G-protein signaling 18							48	52	50					1																	192127877		2202	4287	6489	SO:0001583	missense	64407				negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity	g.chr1:192127877C>T	AF268036	CCDS1374.1	1q31.2	2008-02-05	2007-08-14		ENSG00000150681	ENSG00000150681		"Regulators of G-protein signaling"	14261	protein-coding gene	gene with protein product		607192	"regulator of G-protein signalling 18"			11042171	Standard	NM_130782		Approved	RGS13	uc001gsg.3	Q9NS28	OTTHUMG00000035592	ENST00000367460.3:c.110C>T	1.37:g.192127877C>T	ENSP00000356430:p.Ala37Val					RGS18_ENST00000481707.1_3'UTR	p.A37V	NM_130782.2	NP_570138.1	Q9NS28	RGS18_HUMAN			1	291	+			37					B2RD23	Missense_Mutation	SNP	ENST00000367460.3	37	c.110C>T	CCDS1374.1	.	.	.	.	.	.	.	.	.	.	C	13.46	2.244697	0.39697	.	.	ENSG00000150681	ENST00000367460	T	0.51071	0.72	6.06	0.193	0.15139	.	0.851416	0.10732	N	0.640516	T	0.31136	0.0787	L	0.41236	1.265	0.26822	N	0.968762	B	0.10296	0.003	B	0.06405	0.002	T	0.22277	-1.0221	10	0.25751	T	0.34	.	2.3317	0.04237	0.3556:0.3779:0.1161:0.1503	.	37	Q9NS28	RGS18_HUMAN	V	37	ENSP00000356430:A37V	ENSP00000356430:A37V	A	+	2	0	RGS18	190394500	0.388000	0.25197	0.998000	0.56505	0.991000	0.79684	-0.362000	0.07602	0.118000	0.18165	-0.175000	0.13238	GCC		0.284	RGS18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086382.1	NM_130782		4	60	0	0	0	1	0	4	60					T	192127877	C	T	192127877	3	4	435	1	0	0	0	0	1	0	0	0	13300	739	26	3	112	3	RGS18	1	192127877	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	2059667	192127877	57122744	769	21694											
RGS13	6003	broad.mit.edu	37	chr1	192628557	192628557	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gaagaagctcagaaaatagtCtatatgcatatggaaaggga	18	8	11	4	0	2	2	1	0	1	2	2	5	2	4	0	2	2	2	0	2	9	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:192628557C>T	ENST00000391995.2	+	7	672	c.384C>T	c.(382-384)gtC>gtT	p.V128V	RGS13_ENST00000543215.1_Silent_p.V128V|RGS13_ENST00000482095.1_3'UTR	NM_002927.4	NP_002918.1	O14921	RGS13_HUMAN	regulator of G-protein signaling 13	128	RGS. {ECO:0000255|PROSITE- ProRule:PRU00171}.				G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of GTPase activity (GO:0043547)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)			endometrium(1)|kidney(1)|large_intestine(4)|lung(12)|skin(1)	19						AGAAAATAGTCTATATGCATA	0.368																																						ENST00000391995.2																			0				endometrium(1)|kidney(1)|large_intestine(4)|lung(12)|skin(1)	19						c.(382-384)gtC>gtT		regulator of G-protein signaling 13							85	77	80					1																	192628557		2203	4300	6503	SO:0001819	synonymous_variant	6003					plasma membrane	GTPase activator activity|signal transducer activity	g.chr1:192628557C>T	AF030107	CCDS1376.1	1q31.2	2008-02-05	2007-08-14		ENSG00000127074	ENSG00000127074		"Regulators of G-protein signaling"	9995	protein-coding gene	gene with protein product		607190	"regulator of G-protein signalling 13"			11875076	Standard	NM_144766		Approved		uc001gsk.3	O14921	OTTHUMG00000035601	ENST00000391995.2:c.384C>T	1.37:g.192628557C>T						RGS13_ENST00000482095.1_3'UTR|RGS13_ENST00000543215.1_Silent_p.V128V	p.V128V	NM_002927.4	NP_002918.1	O14921	RGS13_HUMAN			7	672	+			128			RGS.		Q6PGR2|Q8TD63|Q9BX45	Silent	SNP	ENST00000391995.2	37	c.384C>T	CCDS1376.1																																																																																				0.368	RGS13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086400.1	NM_002927		31	20	0	0	0	1	0	31	20					T	192628557	C	T	192628557	2	4	435	1	0	0	0	0	0	0	0	1	13296	900	32	3		3	RGS13	1	192628557	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	500680	192628557	56622064	770	21695											
TROVE2	6738	broad.mit.edu	37	chr1	193045659	193045659	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctttgttacaagaaatgcCgcttactgcattactaagga	12	12	9	8	1	0	1	0	0	0	1	0	2	0	2	1	2	5	4	1	2	6	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:193045659C>T	ENST00000367446.3	+	4	1040	c.830C>T	c.(829-831)cCg>cTg	p.P277L	TROVE2_ENST00000367445.3_Missense_Mutation_p.P277L|TROVE2_ENST00000432079.1_Missense_Mutation_p.P2L|TROVE2_ENST00000367441.1_Missense_Mutation_p.P277L|TROVE2_ENST00000400968.2_Missense_Mutation_p.P277L|TROVE2_ENST00000367444.3_Missense_Mutation_p.P277L|TROVE2_ENST00000367443.1_Missense_Mutation_p.P277L|TROVE2_ENST00000416058.2_Missense_Mutation_p.P2L|TROVE2_ENST00000460715.2_3'UTR	NM_004600.5	NP_004591.2	P10155	RO60_HUMAN	TROVE domain family, member 2	277	RNA-binding. {ECO:0000250}.|TROVE. {ECO:0000255|PROSITE- ProRule:PRU00343}.				cilium morphogenesis (GO:0060271)|immune system development (GO:0002520)|response to UV (GO:0009411)|smoothened signaling pathway (GO:0007224)|transcription from RNA polymerase III promoter (GO:0006383)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	metal ion binding (GO:0046872)|RNA binding (GO:0003723)|U2 snRNA binding (GO:0030620)			biliary_tract(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|urinary_tract(1)	21						CAAGAAATGCCGCTTACTGCA	0.328																																						ENST00000432079.1																			0				biliary_tract(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|urinary_tract(1)	21						c.(4-6)cCg>cTg		TROVE domain family, member 2							107	102	104					1																	193045659		1826	4076	5902	SO:0001583	missense	6738				transcription from RNA polymerase III promoter	cytoplasm|nucleus|ribonucleoprotein complex	protein binding|RNA binding	g.chr1:193045659C>T	BC036658	CCDS41449.1, CCDS1379.1, CCDS41450.1, CCDS41450.2, CCDS53451.1	1q31	2014-08-06	2005-06-14	2005-06-14	ENSG00000116747	ENSG00000116747			11313	protein-coding gene	gene with protein product		600063	"Sjogren syndrome antigen A2 (60kDa, ribonucleoprotein autoantigen SS-A/Ro)"	SSA2		8188321	Standard	NM_001042369		Approved	Ro60	uc001gss.3	P10155	OTTHUMG00000035675	ENST00000367446.3:c.830C>T	1.37:g.193045659C>T	ENSP00000356416:p.Pro277Leu					TROVE2_ENST00000367446.3_Missense_Mutation_p.P277L|TROVE2_ENST00000460715.2_3'UTR|TROVE2_ENST00000367445.3_Missense_Mutation_p.P277L|TROVE2_ENST00000367441.1_Missense_Mutation_p.P277L|TROVE2_ENST00000367444.3_Missense_Mutation_p.P277L|TROVE2_ENST00000400968.2_Missense_Mutation_p.P277L|TROVE2_ENST00000367443.1_Missense_Mutation_p.P277L|TROVE2_ENST00000416058.2_Missense_Mutation_p.P2L	p.P2L			P10155	RO60_HUMAN			3	573	+			277					B2RBB9|Q5LJ98|Q5LJ99|Q5LJA0|Q86WL3|Q86WL4|Q92787|Q9H1W6	Missense_Mutation	SNP	ENST00000367446.3	37	c.5C>T	CCDS1379.1	.	.	.	.	.	.	.	.	.	.	C	27.7	4.857283	0.91433	.	.	ENSG00000116747	ENST00000400968;ENST00000416058;ENST00000367446;ENST00000367443;ENST00000367445;ENST00000367444;ENST00000367441	T;T;T;T;T;T;T	0.25579	1.79;1.79;1.79;1.79;1.79;1.79;1.79	5.25	5.25	0.73442	TROVE (2);	0.000000	0.85682	D	0.000000	T	0.60157	0.2247	M	0.89414	3.03	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.998;0.998;0.998;1.0	T	0.67341	-0.5695	10	0.66056	D	0.02	-12.9501	19.2623	0.93973	0.0:1.0:0.0:0.0	.	277;277;277;277	Q5LJ99;Q5LJ98;Q5LJA0;P10155	.;.;.;RO60_HUMAN	L	277;2;277;277;277;277;277	ENSP00000383752:P277L;ENSP00000411421:P2L;ENSP00000356416:P277L;ENSP00000356413:P277L;ENSP00000356415:P277L;ENSP00000356414:P277L;ENSP00000356411:P277L	ENSP00000356411:P277L	P	+	2	0	TROVE2	191312282	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.070000	0.76763	2.631000	0.89168	0.456000	0.33151	CCG		0.328	TROVE2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000086688.1	NM_004600		48	101	0	0	0	1	0	48	101					T	193045659	C	T	193045659	3	4	435	1	0	0	0	0	1	0	0	0	16573	652	23	2	840	2	TROVE2	1	193045659	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	417102	193045659	56204962	771	21696											
CDC73	79577	broad.mit.edu	37	chr1	193094340	193094340	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcatcctgtttatgtccgacGtgcagctgtaagtagaattc	9	14	9	9	2	1	1	1	0	0	1	4	2	3	1	2	0	2	5	2	0	4	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:193094340G>A	ENST00000367435.3	+	2	414	c.230G>A	c.(229-231)cGt>cAt	p.R77H		NM_024529.4	NP_078805.3	Q6P1J9	CDC73_HUMAN	cell division cycle 73	77					cell cycle (GO:0007049)|cellular response to lipopolysaccharide (GO:0071222)|endodermal cell fate commitment (GO:0001711)|histone H2B ubiquitination (GO:0033523)|histone monoubiquitination (GO:0010390)|mRNA polyadenylation (GO:0006378)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of mRNA 3'-end processing (GO:0031442)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of Wnt signaling pathway (GO:0030177)|protein destabilization (GO:0031648)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	Cdc73/Paf1 complex (GO:0016593)|nucleus (GO:0005634)	RNA polymerase II core binding (GO:0000993)			breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(14)|ovary(1)|pancreas(1)|parathyroid(51)|skin(1)|upper_aerodigestive_tract(1)	87						TATGTCCGACGTGCAGCTGTA	0.393																																						ENST00000367435.3																			0				breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(14)|ovary(1)|pancreas(1)|parathyroid(51)|skin(1)|upper_aerodigestive_tract(1)	87						c.(229-231)cGt>cAt		cell division cycle 73							138	138	138					1																	193094340		2203	4300	6503	SO:0001583	missense	79577				cell cycle|histone H2B ubiquitination|histone monoubiquitination|transcription, DNA-dependent	Cdc73/Paf1 complex	protein binding	g.chr1:193094340G>A	AF312865	CCDS1382.1	1q25	2014-09-17	2013-01-17	2005-07-20	ENSG00000134371	ENSG00000134371			16783	protein-coding gene	gene with protein product	"Paf1/RNA polymerase II complex component"	607393	"chromosome 1 open reading frame 28", "hyperparathyroidism 2 (with jaw tumor)", "cell division cycle 73, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae)", "hyperparathyroidism 1"	C1orf28, HRPT2, HRPT1		11318611, 15632063, 18755853	Standard	NM_024529		Approved	parafibromin, FIHP	uc001gtb.3	Q6P1J9	OTTHUMG00000035676	ENST00000367435.3:c.230G>A	1.37:g.193094340G>A	ENSP00000356405:p.Arg77His						p.R77H	NM_024529.4	NP_078805.3	Q6P1J9	CDC73_HUMAN			2	414	+			77					A6NLZ8|B2RBR2|Q6PK51|Q96A07|Q9H245|Q9H5L7	Missense_Mutation	SNP	ENST00000367435.3	37	c.230G>A	CCDS1382.1	.	.	.	.	.	.	.	.	.	.	G	17.48	3.399862	0.62177	.	.	ENSG00000134371	ENST00000367435;ENST00000445394	D	0.84730	-1.89	5.88	4.0	0.46444	.	0.000000	0.85682	D	0.000000	T	0.77336	0.4115	L	0.41236	1.265	0.58432	D	0.999998	B	0.29671	0.254	B	0.19666	0.026	T	0.72824	-0.4176	10	0.46703	T	0.11	-9.511	11.164	0.48533	0.0661:0.0:0.805:0.1289	.	77	Q6P1J9	CDC73_HUMAN	H	77	ENSP00000356405:R77H	ENSP00000356405:R77H	R	+	2	0	CDC73	191360963	1.000000	0.71417	0.989000	0.46669	0.984000	0.73092	7.780000	0.85658	0.812000	0.34326	-0.169000	0.13324	CGT		0.393	CDC73-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086696.2	NM_024529		17	31	0	0	0	1	0	17	31					A	193094340	G	A	193094340	3	1	435	1	0	0	0	0	1	0	0	0	3085	1145	40	1	236	1	CDC73	1	193094340	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	48681	193094340	56156281	772	21697											
KCNT2	343450	broad.mit.edu	37	chr1	196285152	196285152	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccacacctgagtaagtcatCtaggctttgataaaaatcaa	15	11	6	9	0	3	2	2	2	1	0	4	2	4	2	2	1	0	2	2	1	6	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:196285152C>A	ENST00000294725.9	-	21	3268	c.2353G>T	c.(2353-2355)Gat>Tat	p.D785Y	KCNT2_ENST00000367433.5_Missense_Mutation_p.D761Y|KCNT2_ENST00000609185.1_Missense_Mutation_p.D711Y|KCNT2_ENST00000367431.4_Missense_Mutation_p.D711Y|KCNT2_ENST00000451324.2_Splice_Site|KCNT2_ENST00000498426.1_5'UTR			Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	785					potassium ion transmembrane transport (GO:0071805)	voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|calcium-activated potassium channel activity (GO:0015269)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						AGTAAGTCATCTAGGCTTTGA	0.388																																						ENST00000367433.5																			0				NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						c.(2281-2283)Gat>Tat		potassium channel, subfamily T, member 2							89	79	82					1																	196285152		2203	4299	6502	SO:0001583	missense	343450					voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity	g.chr1:196285152C>A	BX647852, AY359444, AK127807	CCDS1384.1, CCDS72994.1, CCDS72995.1	1q31.3	2012-07-05			ENSG00000162687	ENSG00000162687		"Potassium channels", "Voltage-gated ion channels / Potassium channels, calcium-activated"	18866	protein-coding gene	gene with protein product	"sodium and chloride activated ATP sensitive potassium channel"	610044				16382103	Standard	NM_198503		Approved	KCa4.2, SLICK, SLO2.1	uc001gtd.1	Q6UVM3	OTTHUMG00000035611	ENST00000294725.9:c.2353G>T	1.37:g.196285152C>A	ENSP00000294725:p.Asp785Tyr					KCNT2_ENST00000294725.8_Missense_Mutation_p.D785Y|KCNT2_ENST00000367431.4_Missense_Mutation_p.D711Y|KCNT2_ENST00000498426.1_5'UTR|KCNT2_ENST00000451324.2_Splice_Site	p.D761Y			Q6UVM3	KCNT2_HUMAN			20	2382	-			785					Q3SY59|Q5VTN1|Q6ZMT3	Missense_Mutation	SNP	ENST00000294725.9	37	c.2281G>T	CCDS1384.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	24.3|24.3	4.521796|4.521796	0.85600|0.85600	.|.	.|.	ENSG00000162687|ENSG00000162687	ENST00000451324|ENST00000367433;ENST00000367431;ENST00000294725	.|T;T;T	.|0.79554	.|-1.28;-1.28;-1.28	5.87|5.87	4.97|4.97	0.65823|0.65823	.|.	.|0.186217	.|0.37623	.|N	.|0.002011	.|D	.|0.90369	.|0.6986	M|M	0.85859|0.85859	2.78|2.78	0.80722|0.80722	D|D	1|1	.|D;D;D;D;D	.|0.89917	.|1.0;1.0;1.0;1.0;1.0	.|D;D;D;D;D	.|0.97110	.|0.998;1.0;1.0;1.0;0.998	.|D	.|0.91861	.|0.5499	.|10	.|0.72032	.|D	.|0.01	.|-13.6486	15.1644|15.1644	0.72811|0.72811	0.0:0.9324:0.0:0.0676|0.0:0.9324:0.0:0.0676	.|.	.|785;743;761;711;785	.|A9LNM6;Q6UVM3-4;Q6UVM3-2;Q6UVM3-3;Q6UVM3	.|.;.;.;.;KCNT2_HUMAN	.|Y	-1|761;711;785	.|ENSP00000356403:D761Y;ENSP00000356401:D711Y;ENSP00000294725:D785Y	.|ENSP00000294725:D785Y	.|D	-|-	.|1	.|0	KCNT2|KCNT2	194551775|194551775	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	6.054000|6.054000	0.71096|0.71096	1.480000|1.480000	0.48289|0.48289	0.650000|0.650000	0.86243|0.86243	.|GAT		0.388	KCNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086418.2	NM_198503		8	15	1	0	0.335167	1	0.335495	8	15					A	196285152	C	A	196285152	3	1	435	1	0	0	0	0	1	0	0	0	8092	913	32	5	1086	5	KCNT2	1	196285152	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	3190812	196285152	52965469	773	21698											
CFH	3075	broad.mit.edu	37	chr1	196659286	196659286	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tatagacgttgcctgccatcCtggctacgctcttccaaaag	9	11	8	13	2	1	1	0	0	1	1	3	1	3	1	4	1	3	3	4	1	5	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:196659286C>T	ENST00000359637.2	+	8	1123	c.1061C>T	c.(1060-1062)cCt>cTt	p.P354L	CFH_ENST00000367429.4_Missense_Mutation_p.P418L|CFH_ENST00000439155.2_Missense_Mutation_p.P418L			P08603	CFAH_HUMAN	complement factor H	418	Sushi 6. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	heparan sulfate proteoglycan binding (GO:0043395)|heparin binding (GO:0008201)			NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						GCCTGCCATCCTGGCTACGCT	0.418																																						ENST00000367429.4																			0				NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						c.(1252-1254)cCt>cTt		complement factor H							100	86	91					1																	196659286		2203	4300	6503	SO:0001583	missense	3075				complement activation, alternative pathway	extracellular space		g.chr1:196659286C>T	Y00716	CCDS1385.1	1q32	2014-09-17	2004-08-09	2004-08-12	ENSG00000000971	ENSG00000000971		"Complement system"	4883	protein-coding gene	gene with protein product	"beta-1H", "H factor 2 (complement)", "age-related maculopathy susceptibility 1"	134370	"H factor 1 (complement)"	HF, HF1, HF2		2889480, 2963625	Standard	NM_000186		Approved	HUS, FHL1, ARMS1, ARMD4	uc001gtj.4	P08603	OTTHUMG00000035607	ENST00000359637.2:c.1061C>T	1.37:g.196659286C>T	ENSP00000352658:p.Pro354Leu					CFH_ENST00000439155.2_Missense_Mutation_p.P418L|CFH_ENST00000359637.2_Missense_Mutation_p.P354L	p.P418L	NM_000186.3	NP_000177.2	P08603	CFAH_HUMAN			9	1493	+			418			Sushi 7.		A5PL14|P78435|Q14570|Q2TAZ5|Q38G77|Q5TFM3|Q8N708|Q9NU86	Missense_Mutation	SNP	ENST00000359637.2	37	c.1253C>T		.	.	.	.	.	.	.	.	.	.	C	11.88	1.769605	0.31320	.	.	ENSG00000000971	ENST00000367429;ENST00000439155;ENST00000391986;ENST00000359637	T;T;T	0.66099	-0.19;-0.19;-0.19	4.69	-5.77	0.02369	Complement control module (2);Sushi/SCR/CCP (3);	.	.	.	.	T	0.65852	0.2731	M	0.77103	2.36	0.09310	N	1	B;P;B;B	0.37276	0.39;0.589;0.125;0.08	P;B;B;B	0.46320	0.512;0.4;0.071;0.112	T	0.65623	-0.6123	9	0.48119	T	0.1	.	10.7224	0.46048	0.3304:0.1778:0.4918:0.0	.	354;418;418;418	Q5TFM2;P08603-2;P08603;F8WDX4	.;.;CFAH_HUMAN;.	L	418;418;418;354	ENSP00000356399:P418L;ENSP00000402656:P418L;ENSP00000352658:P354L	ENSP00000352658:P354L	P	+	2	0	CFH	194925909	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-3.420000	0.00477	-1.103000	0.03019	0.655000	0.94253	CCT		0.418	CFH-002	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000087502.1	NM_000186		14	29	0	0	0	1	0	14	29					T	196659286	C	T	196659286	3	4	435	1	0	0	0	0	1	0	0	0	3283	681	24	3	1287	3	CFH	1	196659286	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	374134	196659286	52591335	774	21699											
CFH	3075	broad.mit.edu	37	chr1	196682946	196682946	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atatgccttaaaagaaaaagCgaaatatcaatgcaaactag	21	8	6	6	1	1	1	1	0	0	1	1	2	1	1	1	0	4	1	1	0	10	4	rs371053403		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:196682946C>T	ENST00000367429.4	+	10	1658	c.1418C>T	c.(1417-1419)gCg>gTg	p.A473V		NM_000186.3	NP_000177.2	P08603	CFAH_HUMAN	complement factor H	473	Sushi 8. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	heparan sulfate proteoglycan binding (GO:0043395)|heparin binding (GO:0008201)			NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						AAAGAAAAAGCGAAATATCAA	0.353													C|||	1	0.000199681	8e-04	0	5008	,	,		16070	0		0	False		,,,				2504	0					ENST00000367429.4																			0				NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						c.(1417-1419)gCg>gTg		complement factor H		C	VAL/ALA	0,4406		0,0,2203	85	81	82		1418	4.3	0	1		82	1,8599	1.2+/-3.3	0,1,4299	no	missense	CFH	NM_000186.3	64	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	473/1232	196682946	1,13005	2203	4300	6503	SO:0001583	missense	3075				complement activation, alternative pathway	extracellular space		g.chr1:196682946C>T	Y00716	CCDS1385.1	1q32	2014-09-17	2004-08-09	2004-08-12	ENSG00000000971	ENSG00000000971		"Complement system"	4883	protein-coding gene	gene with protein product	"beta-1H", "H factor 2 (complement)", "age-related maculopathy susceptibility 1"	134370	"H factor 1 (complement)"	HF, HF1, HF2		2889480, 2963625	Standard	NM_000186		Approved	HUS, FHL1, ARMS1, ARMD4	uc001gtj.4	P08603	OTTHUMG00000035607	ENST00000367429.4:c.1418C>T	1.37:g.196682946C>T	ENSP00000356399:p.Ala473Val						p.A473V	NM_000186.3	NP_000177.2	P08603	CFAH_HUMAN			10	1658	+			473			Sushi 8.		A5PL14|P78435|Q14570|Q2TAZ5|Q38G77|Q5TFM3|Q8N708|Q9NU86	Missense_Mutation	SNP	ENST00000367429.4	37	c.1418C>T	CCDS1385.1	.	.	.	.	.	.	.	.	.	.	C	7.864	0.726636	0.15439	0.0	1.16E-4	ENSG00000000971	ENST00000367429	T	0.58652	0.32	5.23	4.32	0.51571	Complement control module (2);Sushi/SCR/CCP (3);	.	.	.	.	T	0.31136	0.0787	N	0.04820	-0.15	0.22996	N	0.998451	B	0.26512	0.151	B	0.27076	0.076	T	0.21075	-1.0256	9	0.02654	T	1	.	9.7906	0.40704	0.0:0.9041:0.0:0.0959	.	473	P08603	CFAH_HUMAN	V	473	ENSP00000356399:A473V	ENSP00000356399:A473V	A	+	2	0	CFH	194949569	0.002000	0.14202	0.001000	0.08648	0.002000	0.02628	1.348000	0.33987	1.203000	0.43233	0.591000	0.81541	GCG		0.353	CFH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086412.2	NM_000186		11	23	0	0	0	1	0	11	23					T	196682946	C	T	196682946	3	4	435	1	0	0	0	0	1	0	0	0	3283	768	27	1	1474	1	CFH	1	196682946	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	23660	196682946	52567675	775	21700											
CFHR3	10878	broad.mit.edu	37	chr1	196759314	196759314	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cttcagggttctaattatgtAacatgtagtaatggagagtg	12	14	11	4	0	2	1	1	0	1	1	2	2	2	1	0	2	1	4	0	2	5	7	rs369359160		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:196759314A>G	ENST00000367425.4	+	5	845	c.753A>G	c.(751-753)gtA>gtG	p.V251V	CFHR3_ENST00000391985.3_Silent_p.V190V	NM_021023.5	NP_066303.2	Q02985	FHR3_HUMAN	complement factor H-related 3	251	Sushi 4. {ECO:0000255|PROSITE- ProRule:PRU00302}.					blood microparticle (GO:0072562)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	18						CTAATTATGTAACATGTAGTA	0.393																																						ENST00000367425.4																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	18						c.(751-753)gtA>gtG		complement factor H-related 3		A	,	0,3240		0,0,1620	60	87	79		570,753	-3.1	0	1		79	3,7891		0,3,3944	no	coding-synonymous,coding-synonymous	CFHR3	NM_001166624.1,NM_021023.5	,	0,3,5564	GG,GA,AA		0.038,0.0,0.0269	,	190/270,251/331	196759314	3,11131	1620	3947	5567	SO:0001819	synonymous_variant	10878							g.chr1:196759314A>G	X68679	CCDS30958.1, CCDS53453.1	1q32	2014-09-17		2006-02-28	ENSG00000116785	ENSG00000116785		"Complement system"	16980	protein-coding gene	gene with protein product	"complement factor H related 3"	605336		CFHL3		8428964, 10380701	Standard	NM_021023		Approved	FHR-3, HLF4, FHR3, DOWN16	uc001gtl.3	Q02985	OTTHUMG00000035929	ENST00000367425.4:c.753A>G	1.37:g.196759314A>G						CFHR3_ENST00000391985.3_Silent_p.V190V	p.V251V	NM_021023.5	NP_066303.2					5	845	+								B4DPR0|Q9UJ16	Silent	SNP	ENST00000367425.4	37	c.753A>G	CCDS30958.1																																																																																				0.393	CFHR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087505.2	NM_021023		42	6	0	0	0	1	0	42	6					G	196759314	A	G	196759314	2	3	435	1	0	0	0	0	0	0	0	1	3286	349	13	4		4	CFHR3	1	196759314	Silent	SNP	A	TCGA-XK-AAIW-01A-11D-A41K-08	76368	196759314	52491307	776	21701											
CFHR5	81494	broad.mit.edu	37	chr1	196963273	196963273	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcagccaaaaaaagaaagctAcaaagttggagacgtgttga	18	7	10	6	1	1	3	1	1	0	2	1	4	1	3	1	1	3	3	1	1	6	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:196963273A>G	ENST00000256785.4	+	4	603	c.494A>G	c.(493-495)tAc>tGc	p.Y165C	CFHR5_ENST00000367414.5_Missense_Mutation_p.Y189C			Q9BXR6	FHR5_HUMAN	complement factor H-related 5	165	Sushi 3. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation, alternative pathway (GO:0006957)	extracellular region (GO:0005576)				NS(2)|breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(23)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	49						AAAGAAAGCTACAAAGTTGGA	0.333																																						ENST00000367414.5																			0				NS(2)|breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(23)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	49						c.(565-567)tAc>tGc		complement factor H-related 5							89	102	97					1																	196963273		2203	4300	6503	SO:0001583	missense	81494				complement activation, alternative pathway	extracellular region		g.chr1:196963273A>G	AF295327	CCDS1387.1	1q31.3	2014-09-17		2006-02-28	ENSG00000134389	ENSG00000134389		"Complement system"	24668	protein-coding gene	gene with protein product	"factor H related protein 5"	608593		CFHL5		11058592, 12041828	Standard	NM_030787		Approved	FHR5, FHR-5	uc001gts.4	Q9BXR6	OTTHUMG00000036517	ENST00000256785.4:c.494A>G	1.37:g.196963273A>G	ENSP00000256785:p.Tyr165Cys					CFHR5_ENST00000256785.4_Missense_Mutation_p.Y165C	p.Y189C	NM_030787.3	NP_110414.1	Q9BXR6	FHR5_HUMAN			4	622	+			165			Sushi 3.		Q2NKK2	Missense_Mutation	SNP	ENST00000256785.4	37	c.566A>G	CCDS1387.1	.	.	.	.	.	.	.	.	.	.	A	9.015	0.983493	0.18889	.	.	ENSG00000134389	ENST00000367414;ENST00000256785	T;T	0.69926	-0.44;-0.44	3.98	3.98	0.46160	Complement control module (2);Sushi/SCR/CCP (3);	.	.	.	.	D	0.84101	0.5398	M	0.92555	3.32	0.09310	N	1	D	0.89917	1.0	D	0.91635	0.999	T	0.74247	-0.3727	9	0.87932	D	0	.	9.2685	0.37657	1.0:0.0:0.0:0.0	.	165	Q9BXR6	FHR5_HUMAN	C	189;165	ENSP00000356384:Y189C;ENSP00000256785:Y165C	ENSP00000256785:Y165C	Y	+	2	0	CFHR5	195229896	0.524000	0.26282	0.007000	0.13788	0.013000	0.08279	2.956000	0.49129	1.448000	0.47680	0.247000	0.18012	TAC		0.333	CFHR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088814.2	NM_030787		33	51	0	0	0	1	0	33	51					G	196963273	A	G	196963273	3	3	435	1	0	0	0	0	1	0	0	0	3288	391	14	4	508	4	CFHR5	1	196963273	Missense_Mutation	SNP	A	TCGA-XK-AAIW-01A-11D-A41K-08	203959	196963273	52287348	777	21702											
F13B	2165	broad.mit.edu	37	chr1	197009752	197009752	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcagctggataagtatctcCtctacaaataaactcaatat	15	13	4	9	0	4	0	2	0	2	0	5	1	4	1	1	1	3	2	1	1	8	6			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:197009752C>A	ENST00000367412.1	-	11	1895	c.1852G>T	c.(1852-1854)Gga>Tga	p.G618*	F13B_ENST00000490002.1_5'UTR	NM_001994.2	NP_001985.2	P05160	F13B_HUMAN	coagulation factor XIII, B polypeptide	618	Sushi 10. {ECO:0000255|PROSITE- ProRule:PRU00302}.				blood coagulation (GO:0007596)	extracellular region (GO:0005576)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(40)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	66						TAAGTATCTCCTCTACAAATA	0.313																																						ENST00000367412.1																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(40)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	66						c.(1852-1854)Gga>Tga		coagulation factor XIII, B polypeptide							72	73	73					1																	197009752		2201	4292	6493	SO:0001587	stop_gained	2165				blood coagulation	extracellular region		g.chr1:197009752C>A	M14057	CCDS1388.1	1q31-q32.1	2012-10-02			ENSG00000143278	ENSG00000143278			3534	protein-coding gene	gene with protein product		134580				2339067, 2271707	Standard	NM_001994		Approved	FXIIIB	uc001gtt.1	P05160	OTTHUMG00000036519	ENST00000367412.1:c.1852G>T	1.37:g.197009752C>A	ENSP00000356382:p.Gly618*					F13B_ENST00000490002.1_5'UTR	p.G618*	NM_001994.2	NP_001985.2	P05160	F13B_HUMAN			11	1895	-			618			Sushi 10.		A8K3E5|Q5VYL5	Nonsense_Mutation	SNP	ENST00000367412.1	37	c.1852G>T	CCDS1388.1	.	.	.	.	.	.	.	.	.	.	C	14.16	2.451863	0.43531	.	.	ENSG00000143278	ENST00000367412	.	.	.	5.59	-9.19	0.00685	.	0.834325	0.09805	N	0.753613	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.21540	T	0.41	.	14.903	0.70696	0.0:0.6149:0.0975:0.2877	.	.	.	.	X	618	.	ENSP00000356382:G618X	G	-	1	0	F13B	195276375	0.000000	0.05858	0.000000	0.03702	0.016000	0.09150	-1.316000	0.02710	-2.024000	0.00936	-0.880000	0.02959	GGA		0.313	F13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088821.2	NM_001994		15	24	1	0	3.35478e-16	1	3.68069e-16	15	24					A	197009752	C	A	197009752	4	1	435	1	0	0	0	0	0	1	0	0	5341	690	24	5	141	5	F13B	1	197009752	Nonsense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	46479	197009752	52240869	778	21703											
F13B	2165	broad.mit.edu	37	chr1	197030913	197030913	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tttaggaaatgattcttataCcatgttctttcctacaggtt	10	18	6	7	0	2	1	0	1	2	0	3	2	3	2	2	2	2	2	2	2	5	9			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:197030913C>T	ENST00000367412.1	-	3	495		c.e3+1			NM_001994.2	NP_001985.2	P05160	F13B_HUMAN	coagulation factor XIII, B polypeptide						blood coagulation (GO:0007596)	extracellular region (GO:0005576)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(40)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	66						GATTCTTATACCATGTTCTTT	0.338																																						ENST00000367412.1																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(40)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	66						c.e3+1		coagulation factor XIII, B polypeptide							109	94	99					1																	197030913		2203	4300	6503	SO:0001630	splice_region_variant	2165				blood coagulation	extracellular region		g.chr1:197030913C>T	M14057	CCDS1388.1	1q31-q32.1	2012-10-02			ENSG00000143278	ENSG00000143278			3534	protein-coding gene	gene with protein product		134580				2339067, 2271707	Standard	NM_001994		Approved	FXIIIB	uc001gtt.1	P05160	OTTHUMG00000036519	ENST00000367412.1:c.451+1G>A	1.37:g.197030913C>T								NM_001994.2	NP_001985.2	P05160	F13B_HUMAN			3	495	-								A8K3E5|Q5VYL5	Splice_Site	SNP	ENST00000367412.1	37		CCDS1388.1	.	.	.	.	.	.	.	.	.	.	C	16.72	3.201011	0.58234	.	.	ENSG00000143278	ENST00000367412	.	.	.	5.85	5.85	0.93711	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.1731	0.98165	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	F13B	195297536	1.000000	0.71417	0.935000	0.37517	0.515000	0.34225	5.096000	0.64535	2.768000	0.95171	0.655000	0.94253	.		0.338	F13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088821.2	NM_001994	Intron	20	27	0	0	0	1	0	20	27					T	197030913	C	T	197030913	5	4	435	1	0	0	0	0	0	0	1	0	5341	521	18	3	1573	3	F13B	1	197030913	Splice_Site	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	21161	197030913	52219708	779	21704											
ASPM	259266	broad.mit.edu	37	chr1	197091131	197091131	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tcttatttctttacgaagatCcaaaagccttgcacaaagaa	15	12	5	9	1	2	2	0	0	2	2	3	3	3	2	2	0	3	1	2	0	7	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:197091131C>T	ENST00000367409.4	-	16	4040	c.3784G>A	c.(3784-3786)Gat>Aat	p.D1262N	ASPM_ENST00000294732.7_Missense_Mutation_p.D1262N|ASPM_ENST00000367408.1_Missense_Mutation_p.D512N	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	1262					developmental growth (GO:0048589)|forebrain neuroblast division (GO:0021873)|maintenance of centrosome location (GO:0051661)|mitotic nuclear division (GO:0007067)|negative regulation of asymmetric cell division (GO:0045769)|negative regulation of neuron differentiation (GO:0045665)|neuron migration (GO:0001764)|oogenesis (GO:0048477)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of neuroblast proliferation (GO:0002052)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle pole (GO:0000922)				breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						TTACGAAGATCCAAAAGCCTT	0.333																																						ENST00000367409.4																			0				breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						c.(3784-3786)Gat>Aat		asp (abnormal spindle) homolog, microcephaly associated (Drosophila)							80	76	77					1																	197091131		2203	4298	6501	SO:0001583	missense	259266				mitosis	cytoplasm|nucleus	calmodulin binding	g.chr1:197091131C>T	AY367065	CCDS1389.1, CCDS55672.1	1q31	2008-02-05	2006-09-12		ENSG00000066279	ENSG00000066279			19048	protein-coding gene	gene with protein product		605481	"microcephaly, primary autosomal recessive 5", "asp (abnormal spindle)-like, microcephaly associated (Drosophila)"	MCPH5		11078481	Standard	NM_018136		Approved	Calmbp1, ASP, FLJ10517, FLJ10549	uc001gtu.3	Q8IZT6	OTTHUMG00000036277	ENST00000367409.4:c.3784G>A	1.37:g.197091131C>T	ENSP00000356379:p.Asp1262Asn					ASPM_ENST00000367408.1_Missense_Mutation_p.D512N|ASPM_ENST00000294732.7_Missense_Mutation_p.D1262N	p.D1262N	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN			16	4040	-			1262					Q4G1H1|Q5VYL3|Q86UX4|Q8IUL2|Q8IZJ7|Q8IZJ8|Q8IZJ9|Q8N4D1|Q9NVS1|Q9NVT6	Missense_Mutation	SNP	ENST00000367409.4	37	c.3784G>A	CCDS1389.1	.	.	.	.	.	.	.	.	.	.	C	25.0	4.588011	0.86851	.	.	ENSG00000066279	ENST00000367409;ENST00000294732;ENST00000367408	D;D;D	0.82803	-1.65;-1.65;-1.65	5.74	4.82	0.62117	Calponin homology domain (2);	0.073098	0.56097	D	0.000031	D	0.83681	0.5307	L	0.52573	1.65	0.46416	D	0.999034	P;D	0.55800	0.802;0.973	B;P	0.49799	0.184;0.622	D	0.83516	0.0083	10	0.40728	T	0.16	.	16.264	0.82565	0.1335:0.8665:0.0:0.0	.	1262;1262	Q4G1H1;Q8IZT6	.;ASPM_HUMAN	N	1262;1262;512	ENSP00000356379:D1262N;ENSP00000294732:D1262N;ENSP00000356378:D512N	ENSP00000294732:D1262N	D	-	1	0	ASPM	195357754	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.262000	0.58847	1.422000	0.47177	0.585000	0.79938	GAT		0.333	ASPM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000088256.1	NM_018136		21	25	0	0	0	1	0	21	25					T	197091131	C	T	197091131	3	4	435	1	0	0	0	0	1	0	0	0	1056	855	30	3	6701	3	ASPM	1	197091131	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	60218	197091131	52159490	780	21705											
DENND1B	163486	broad.mit.edu	37	chr1	197611872	197611872	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgctcgagataatcacgatgCgcctttcatgcagcatactg	10	11	9	11	3	2	1	2	0	0	1	3	3	2	1	1	0	5	3	1	0	2	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:197611872C>T	ENST00000367396.3	-	10	810	c.641G>A	c.(640-642)cGc>cAc	p.R214H	DENND1B_ENST00000235453.4_Missense_Mutation_p.R184H|DENND1B_ENST00000400967.2_Missense_Mutation_p.R184H	NM_144977.4	NP_659414.2	Q6P3S1	DEN1B_HUMAN	DENN/MADD domain containing 1B	214	DENN. {ECO:0000255|PROSITE- ProRule:PRU00304}.				positive regulation of Rab GTPase activity (GO:0032851)|protein transport (GO:0015031)	cytoplasmic vesicle (GO:0031410)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			NS(2)|breast(2)|kidney(2)|large_intestine(3)|lung(12)|upper_aerodigestive_tract(1)	22						AATCACGATGCGCCTTTCATG	0.378																																						ENST00000235453.4																			0				NS(2)|breast(2)|kidney(2)|large_intestine(3)|lung(12)|upper_aerodigestive_tract(1)	22						c.(550-552)cGc>cAc		DENN/MADD domain containing 1B							87	80	82					1																	197611872		1964	4210	6174	SO:0001583	missense	163486					clathrin-coated vesicle|cytosol	guanyl-nucleotide exchange factor activity	g.chr1:197611872C>T	BC016588	CCDS41452.2, CCDS72996.1, CCDS72997.1	1q31.3	2012-10-03	2005-08-17	2005-08-17	ENSG00000213047	ENSG00000213047		"DENN/MADD domain containing"	28404	protein-coding gene	gene with protein product		613292	"family with sequence similarity 31, member B", "chromosome 1 open reading frame 218"	FAM31B, C1orf218		12477932	Standard	NM_144977		Approved	MGC27044, FLJ20054	uc021pgu.1	Q6P3S1	OTTHUMG00000035653	ENST00000367396.3:c.641G>A	1.37:g.197611872C>T	ENSP00000356366:p.Arg214His					DENND1B_ENST00000400967.2_Missense_Mutation_p.R184H|DENND1B_ENST00000367396.3_Missense_Mutation_p.R214H	p.R184H			Q6P3S1	DEN1B_HUMAN			10	828	-			214			DENN.		B5MD89|D3PFD5|Q5T3B8|Q5T3B9|Q5T3C1|Q5TAI8|Q6B0I8|Q8NDT1|Q8TBE6|Q9H774|Q9NXU2	Missense_Mutation	SNP	ENST00000367396.3	37	c.551G>A	CCDS41452.2	.	.	.	.	.	.	.	.	.	.	C	19.39	3.817812	0.71028	.	.	ENSG00000213047	ENST00000542760;ENST00000450419;ENST00000235453;ENST00000367396;ENST00000400967	T;T;T	0.19105	2.17;2.17;2.17	4.46	4.46	0.54185	DENN (3);	0.000000	0.85682	D	0.000000	T	0.58680	0.2139	H	0.94183	3.505	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.74674	0.984;0.979;0.975;0.966	T	0.73956	-0.3819	10	0.87932	D	0	-13.2398	17.4732	0.87652	0.0:1.0:0.0:0.0	.	214;194;214;184	Q6P3S1-5;Q6P3S1-3;Q6P3S1;Q6P3S1-4	.;.;DEN1B_HUMAN;.	H	214;194;184;214;184	ENSP00000235453:R184H;ENSP00000356366:R214H;ENSP00000383751:R184H	ENSP00000235453:R184H	R	-	2	0	DENND1B	195878495	1.000000	0.71417	0.991000	0.47740	0.331000	0.28603	7.445000	0.80570	2.188000	0.69820	0.650000	0.86243	CGC		0.378	DENND1B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086539.1	NM_144977		22	35	0	0	0	1	0	22	35					T	197611872	C	T	197611872	3	4	435	1	0	0	0	0	1	0	0	0	4427	768	27	1	1783	1	DENND1B	1	197611872	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	520741	197611872	51638749	781	21706											
ZNF281	23528	broad.mit.edu	37	chr1	200377419	200377419	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agtttttatctgtattctttCtgcttcctttcttaaagatc	7	22	4	8	0	4	1	0	0	4	1	6	1	5	1	1	0	1	3	1	0	4	9			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:200377419C>T	ENST00000294740.3	-	2	1539	c.1415G>A	c.(1414-1416)aGa>aAa	p.R472K	ZNF281_ENST00000367353.1_Missense_Mutation_p.R472K|ZNF281_ENST00000367352.3_Missense_Mutation_p.R436K	NM_001281293.1|NM_001281294.1|NM_012482.4	NP_001268222.1|NP_001268223.1|NP_036614.1	Q9Y2X9	ZN281_HUMAN	zinc finger protein 281	472					embryonic body morphogenesis (GO:0010172)|negative regulation of gene expression (GO:0010629)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|stem cell differentiation (GO:0048863)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	core promoter binding (GO:0001047)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)			breast(4)|endometrium(3)|kidney(3)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	27						TGTATTCTTTCTGCTTCCTTT	0.413																																						ENST00000294740.2																			0				breast(4)|endometrium(3)|kidney(3)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	27						c.(1414-1416)aGa>aAa		zinc finger protein 281							113	107	109					1																	200377419		2203	4300	6503	SO:0001583	missense	23528				negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr1:200377419C>T	AF125158	CCDS1402.1, CCDS60384.1	1q32.1	2012-08-08			ENSG00000162702	ENSG00000162702		"Zinc fingers, C2H2-type"	13075	protein-coding gene	gene with protein product						10448078	Standard	NM_012482		Approved	ZBP-99	uc001gve.3	Q9Y2X9	OTTHUMG00000035724	ENST00000294740.3:c.1415G>A	1.37:g.200377419C>T	ENSP00000294740:p.Arg472Lys					ZNF281_ENST00000367352.3_Missense_Mutation_p.R436K|ZNF281_ENST00000367353.1_Missense_Mutation_p.R472K	p.R472K	NM_012482.3	NP_036614.1	Q9Y2X9	ZN281_HUMAN			2	1539	-			472					A6NF48|B3KMX2|Q5RKW5|Q9NY92	Missense_Mutation	SNP	ENST00000294740.3	37	c.1415G>A	CCDS1402.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.384589	0.82792	.	.	ENSG00000162702	ENST00000294740;ENST00000367353;ENST00000367352;ENST00000537759	T;T;T	0.09445	2.98;2.98;2.98	5.79	5.79	0.91817	.	0.107942	0.64402	D	0.000013	T	0.32645	0.0836	M	0.61703	1.905	0.58432	D	0.999991	D;D	0.69078	0.997;0.997	D;D	0.72625	0.978;0.978	T	0.00216	-1.1910	10	0.40728	T	0.16	-6.2858	20.0474	0.97616	0.0:1.0:0.0:0.0	.	436;472	A6NF48;Q9Y2X9	.;ZN281_HUMAN	K	472;472;436;177	ENSP00000294740:R472K;ENSP00000356322:R472K;ENSP00000356321:R436K	ENSP00000294740:R472K	R	-	2	0	ZNF281	198644042	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.452000	0.80683	2.722000	0.93159	0.655000	0.94253	AGA		0.413	ZNF281-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000086879.2	NM_012482		25	32	0	0	0	1	0	25	32					T	200377419	C	T	200377419	3	4	435	1	0	0	0	0	1	0	0	0	17815	913	32	3	1276	3	ZNF281	1	200377419	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	2765547	200377419	48873202	782	21707											
ZNF281	23528	broad.mit.edu	37	chr1	200377605	200377605	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccttattttcaatagctatgCtttttgactttgtttttctc	6	23	4	8	0	2	1	1	1	1	0	3	1	2	1	1	0	2	3	1	0	4	10			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:200377605C>T	ENST00000294740.3	-	2	1353	c.1229G>A	c.(1228-1230)aGc>aAc	p.S410N	ZNF281_ENST00000367353.1_Missense_Mutation_p.S410N|ZNF281_ENST00000367352.3_Missense_Mutation_p.S374N	NM_001281293.1|NM_001281294.1|NM_012482.4	NP_001268222.1|NP_001268223.1|NP_036614.1	Q9Y2X9	ZN281_HUMAN	zinc finger protein 281	410					embryonic body morphogenesis (GO:0010172)|negative regulation of gene expression (GO:0010629)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|stem cell differentiation (GO:0048863)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	core promoter binding (GO:0001047)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)			breast(4)|endometrium(3)|kidney(3)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	27						AATAGCTATGCTTTTTGACTT	0.368																																						ENST00000294740.2																			0				breast(4)|endometrium(3)|kidney(3)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	27						c.(1228-1230)aGc>aAc		zinc finger protein 281							148	147	147					1																	200377605		2203	4300	6503	SO:0001583	missense	23528				negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr1:200377605C>T	AF125158	CCDS1402.1, CCDS60384.1	1q32.1	2012-08-08			ENSG00000162702	ENSG00000162702		"Zinc fingers, C2H2-type"	13075	protein-coding gene	gene with protein product						10448078	Standard	NM_012482		Approved	ZBP-99	uc001gve.3	Q9Y2X9	OTTHUMG00000035724	ENST00000294740.3:c.1229G>A	1.37:g.200377605C>T	ENSP00000294740:p.Ser410Asn					ZNF281_ENST00000367352.3_Missense_Mutation_p.S374N|ZNF281_ENST00000367353.1_Missense_Mutation_p.S410N	p.S410N	NM_012482.3	NP_036614.1	Q9Y2X9	ZN281_HUMAN			2	1353	-			410					A6NF48|B3KMX2|Q5RKW5|Q9NY92	Missense_Mutation	SNP	ENST00000294740.3	37	c.1229G>A	CCDS1402.1	.	.	.	.	.	.	.	.	.	.	C	3.720	-0.057719	0.07317	.	.	ENSG00000162702	ENST00000294740;ENST00000367353;ENST00000367352;ENST00000537759	T;T;T	0.07444	3.22;3.22;3.19	5.67	4.76	0.60689	.	0.241859	0.50627	D	0.000120	T	0.04724	0.0128	N	0.11560	0.145	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.40646	-0.9552	10	0.20046	T	0.44	-0.9148	11.2015	0.48743	0.0:0.8537:0.0:0.1463	.	374;410	A6NF48;Q9Y2X9	.;ZN281_HUMAN	N	410;410;374;115	ENSP00000294740:S410N;ENSP00000356322:S410N;ENSP00000356321:S374N	ENSP00000294740:S410N	S	-	2	0	ZNF281	198644228	0.945000	0.32115	0.045000	0.18777	0.992000	0.81027	1.168000	0.31859	1.384000	0.46424	-0.137000	0.14449	AGC		0.368	ZNF281-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000086879.2	NM_012482		41	66	0	0	0	1	0	41	66					T	200377605	C	T	200377605	3	4	435	1	0	0	0	0	1	0	0	0	17815	797	28	3	1462	3	ZNF281	1	200377605	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	186	200377605	48873016	783	21708											
C1orf106	55765	broad.mit.edu	37	chr1	200880619	200880619	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gggtcctgagggccgaggtcGcagcgcctttccccgccgcc	3	6	15	17	5	0	1	0	1	0	0	3	2	2	1	7	3	1	1	7	3	0	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:200880619G>A	ENST00000367342.4	+	9	1453	c.1253G>A	c.(1252-1254)cGc>cAc	p.R418H	C1orf106_ENST00000413687.2_Missense_Mutation_p.R333H	NM_018265.3	NP_060735.3	Q3KP66	CA106_HUMAN	chromosome 1 open reading frame 106	418										endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(2)	21						GGCCGAGGTCGCAGCGCCTTT	0.672																																						ENST00000367342.4																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(2)	21						c.(1252-1254)cGc>cAc		chromosome 1 open reading frame 106							91	116	108					1																	200880619		2203	4300	6503	SO:0001583	missense	55765							g.chr1:200880619G>A	AK001763	CCDS44292.1	1q32.1	2011-02-15			ENSG00000163362	ENSG00000163362			25599	protein-coding gene	gene with protein product						14702039	Standard	NM_018265		Approved	FLJ10901	uc001gvo.4	Q3KP66	OTTHUMG00000035789	ENST00000367342.4:c.1253G>A	1.37:g.200880619G>A	ENSP00000356311:p.Arg418His					C1orf106_ENST00000413687.2_Missense_Mutation_p.R333H	p.R418H	NM_018265.3	NP_060735.3	Q3KP66	CA106_HUMAN			9	1453	+			418					B4E1K9|E9PFY0|Q9NV65|Q9NVI0	Missense_Mutation	SNP	ENST00000367342.4	37	c.1253G>A		.	.	.	.	.	.	.	.	.	.	G	14.75	2.628019	0.46944	.	.	ENSG00000163362	ENST00000367342;ENST00000413687	T;T	0.53640	0.61;0.64	4.59	4.59	0.56863	.	0.509372	0.19865	N	0.104330	T	0.32941	0.0846	N	0.17082	0.46	0.34349	D	0.689685	B	0.09022	0.002	B	0.08055	0.003	T	0.38415	-0.9662	10	0.34782	T	0.22	-13.1477	14.3881	0.66961	0.0:0.0:1.0:0.0	.	418	Q3KP66	CA106_HUMAN	H	418;333	ENSP00000356311:R418H;ENSP00000392105:R333H	ENSP00000356311:R418H	R	+	2	0	C1orf106	199147242	1.000000	0.71417	0.994000	0.49952	0.751000	0.42716	6.189000	0.72051	2.086000	0.62901	0.549000	0.68633	CGC		0.672	C1orf106-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000087057.2	NM_018265		74	89	0	0	0	1	0	74	89					A	200880619	G	A	200880619	3	1	435	1	0	0	0	0	1	0	0	0	1980	1087	38	1	1287	1	C1orf106	1	200880619	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	503014	200880619	48370002	784	21709											
KIF21B	23046	broad.mit.edu	37	chr1	200953989	200953989	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctccagccctgcttacttGtccagcgctgacccctggct	4	10	8	19	1	0	1	0	1	0	0	2	1	2	1	6	1	4	3	6	1	1	2	rs368095400		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:200953989G>C	ENST00000422435.2	-	27	4117	c.3801C>G	c.(3799-3801)gaC>gaG	p.D1267E	KIF21B_ENST00000461742.2_Missense_Mutation_p.D1267E|KIF21B_ENST00000360529.5_Missense_Mutation_p.D1267E|KIF21B_ENST00000332129.2_Missense_Mutation_p.D1267E	NM_001252100.1	NP_001239029.1	O75037	KI21B_HUMAN	kinesin family member 21B	1267					ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						CTGCTTACTTGTCCAGCGCTG	0.622																																						ENST00000332129.2																			0				autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						c.(3799-3801)gaC>gaG		kinesin family member 21B		G	GLU/ASP	0,4406		0,0,2203	71	64	66		3801	4.6	1	1		66	2,8598	2.2+/-6.3	0,2,4298	no	missense	KIF21B	NM_017596.2	45	0,2,6501	CC,CG,GG		0.0233,0.0,0.0154	possibly-damaging	1267/1625	200953989	2,13004	2203	4300	6503	SO:0001583	missense	23046				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr1:200953989G>C	BC031927	CCDS30965.1, CCDS58054.1, CCDS58055.1, CCDS58056.1	1q32.1	2013-01-10			ENSG00000116852	ENSG00000116852		"Kinesins", "WD repeat domain containing"	29442	protein-coding gene	gene with protein product		608322				9455484	Standard	NM_001252100		Approved	DKFZP434J212, KIAA0449	uc001gvs.2	O75037	OTTHUMG00000035787	ENST00000422435.2:c.3801C>G	1.37:g.200953989G>C	ENSP00000411831:p.Asp1267Glu					KIF21B_ENST00000422435.2_Missense_Mutation_p.D1267E|KIF21B_ENST00000461742.2_Missense_Mutation_p.D1267E|KIF21B_ENST00000360529.5_Missense_Mutation_p.D1267E	p.D1267E	NM_001252102.1|NM_001252103.1|NM_017596.3	NP_001239031.1|NP_001239032.1|NP_060066.2	O75037	KI21B_HUMAN			27	4117	-			1267					B2RP62|B7ZMI0|Q5T4J3	Missense_Mutation	SNP	ENST00000422435.2	37	c.3801C>G	CCDS58056.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.368311	0.82463	0.0	2.33E-4	ENSG00000116852	ENST00000332129;ENST00000360529;ENST00000461742;ENST00000422435;ENST00000539858	T;T;T;T	0.71579	-0.16;-0.48;-0.58;-0.27	5.55	4.64	0.57946	.	0.000000	0.85682	D	0.000000	T	0.64768	0.2628	L	0.56769	1.78	0.44852	D	0.997869	P;P;P;P	0.49559	0.877;0.622;0.622;0.925	B;B;B;P	0.46339	0.315;0.197;0.197;0.513	T	0.66180	-0.5988	10	0.02654	T	1	.	10.6566	0.45678	0.1463:0.0:0.8537:0.0	.	1267;1267;1267;1267	B7ZMI0;B2RP62;O75037;O75037-2	.;.;KI21B_HUMAN;.	E	1267	ENSP00000328494:D1267E;ENSP00000353724:D1267E;ENSP00000433808:D1267E;ENSP00000411831:D1267E	ENSP00000328494:D1267E	D	-	3	2	KIF21B	199220612	1.000000	0.71417	1.000000	0.80357	0.918000	0.54935	3.086000	0.50159	1.354000	0.45846	0.561000	0.74099	GAC		0.622	KIF21B-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382635.1	XM_371332		15	15	0	0	0	1	0	15	15					C	200953989	G	C	200953989	3	2	435	1	0	0	0	0	1	0	0	0	8289	1368	48	5	1105	5	KIF21B	1	200953989	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	73370	200953989	48296632	785	21710											
KIF21B	23046	broad.mit.edu	37	chr1	200961481	200961481	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggtctccactagccgccgccGctgttgctcctcacgcatct	4	10	9	18	4	3	0	1	0	2	0	5	0	4	0	5	1	2	4	5	1	1	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:200961481G>A	ENST00000422435.2	-	16	2630	c.2314C>T	c.(2314-2316)Cgg>Tgg	p.R772W	KIF21B_ENST00000461742.2_Missense_Mutation_p.R772W|KIF21B_ENST00000360529.5_Missense_Mutation_p.R772W|KIF21B_ENST00000332129.2_Missense_Mutation_p.R772W	NM_001252100.1	NP_001239029.1	O75037	KI21B_HUMAN	kinesin family member 21B	772					ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						AGCCGCCGCCGCTGTTGCTCC	0.637																																						ENST00000332129.2																			0				autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						c.(2314-2316)Cgg>Tgg		kinesin family member 21B							75	68	70					1																	200961481		2203	4300	6503	SO:0001583	missense	23046				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr1:200961481G>A	BC031927	CCDS30965.1, CCDS58054.1, CCDS58055.1, CCDS58056.1	1q32.1	2013-01-10			ENSG00000116852	ENSG00000116852		"Kinesins", "WD repeat domain containing"	29442	protein-coding gene	gene with protein product		608322				9455484	Standard	NM_001252100		Approved	DKFZP434J212, KIAA0449	uc001gvs.2	O75037	OTTHUMG00000035787	ENST00000422435.2:c.2314C>T	1.37:g.200961481G>A	ENSP00000411831:p.Arg772Trp					KIF21B_ENST00000422435.2_Missense_Mutation_p.R772W|KIF21B_ENST00000461742.2_Missense_Mutation_p.R772W|KIF21B_ENST00000360529.5_Missense_Mutation_p.R772W	p.R772W	NM_001252102.1|NM_001252103.1|NM_017596.3	NP_001239031.1|NP_001239032.1|NP_060066.2	O75037	KI21B_HUMAN			16	2630	-			772					B2RP62|B7ZMI0|Q5T4J3	Missense_Mutation	SNP	ENST00000422435.2	37	c.2314C>T	CCDS58056.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.121499	0.77436	.	.	ENSG00000116852	ENST00000332129;ENST00000360529;ENST00000461742;ENST00000422435;ENST00000539858	T;T;T;T	0.26223	1.75;1.75;1.75;1.75	5.21	5.21	0.72293	.	0.000000	0.85682	D	0.000000	T	0.50326	0.1609	M	0.71036	2.16	0.53688	D	0.999974	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.85130	0.993;0.965;0.965;0.997	T	0.52859	-0.8519	10	0.87932	D	0	.	14.48	0.67576	0.0:0.0:0.8524:0.1476	.	772;772;772;772	B7ZMI0;B2RP62;O75037;O75037-2	.;.;KI21B_HUMAN;.	W	772	ENSP00000328494:R772W;ENSP00000353724:R772W;ENSP00000433808:R772W;ENSP00000411831:R772W	ENSP00000328494:R772W	R	-	1	2	KIF21B	199228104	0.999000	0.42202	1.000000	0.80357	0.994000	0.84299	1.744000	0.38268	2.422000	0.82143	0.491000	0.48974	CGG		0.637	KIF21B-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382635.1	XM_371332		29	39	0	0	0	1	0	29	39					A	200961481	G	A	200961481	3	1	435	1	0	0	0	0	1	0	0	0	8289	1086	38	1	2636	1	KIF21B	1	200961481	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	7492	200961481	48289140	786	21711											
PKP1	5317	broad.mit.edu	37	chr1	201291157	201291157	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acctctcctaccgcctggacGccgaggtgcccacccgctac	6	6	9	20	4	1	0	0	0	1	0	2	2	1	1	7	2	3	1	7	2	2	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:201291157G>A	ENST00000352845.3	+	9	1462	c.1462G>A	c.(1462-1464)Gcc>Acc	p.A488T	PKP1_ENST00000367324.3_Missense_Mutation_p.A467T|PKP1_ENST00000263946.3_Missense_Mutation_p.A488T			Q13835	PKP1_HUMAN	plakophilin 1	488					apoptotic process (GO:0006915)|cell adhesion (GO:0007155)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|intermediate filament bundle assembly (GO:0045110)|multicellular organismal development (GO:0007275)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)	desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	intermediate filament binding (GO:0019215)|lamin binding (GO:0005521)|signal transducer activity (GO:0004871)|structural constituent of epidermis (GO:0030280)			NS(2)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|ovary(5)|prostate(1)	22						CCGCCTGGACGCCGAGGTGCC	0.617																																						ENST00000263946.3																			0				NS(2)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|ovary(5)|prostate(1)	22						c.(1462-1464)Gcc>Acc		plakophilin 1 (ectodermal dysplasia/skin fragility syndrome)							122	97	105					1																	201291157		2203	4300	6503	SO:0001583	missense	5317				cell adhesion|cellular component disassembly involved in apoptosis|multicellular organismal development	desmosome|intermediate filament|nucleus	intermediate filament binding|signal transducer activity|structural constituent of epidermis	g.chr1:201291157G>A	X79293	CCDS30966.1, CCDS30967.1	1q32	2014-06-18	2014-06-18		ENSG00000081277	ENSG00000081277		"Armadillo repeat containing"	9023	protein-coding gene	gene with protein product	"ectodermal dysplasia/skin fragility syndrome"	601975	"plakophilin 1 (ectodermal dysplasia/skin fragility syndrome)"			9272178	Standard	NM_001005337		Approved	B6P	uc001gwd.3	Q13835	OTTHUMG00000035729	ENST00000352845.3:c.1462G>A	1.37:g.201291157G>A	ENSP00000295597:p.Ala488Thr					PKP1_ENST00000367324.3_Missense_Mutation_p.A467T|PKP1_ENST00000352845.3_Missense_Mutation_p.A488T	p.A488T	NM_000299.3	NP_000290.2	Q13835	PKP1_HUMAN			9	1713	+			488					O00645|Q14CA0|Q15152	Missense_Mutation	SNP	ENST00000352845.3	37	c.1462G>A	CCDS30966.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.169676	0.78452	.	.	ENSG00000081277	ENST00000367324;ENST00000263946;ENST00000352845	T;T;T	0.76578	-1.03;-1.03;-1.03	5.12	4.21	0.49690	Armadillo-like helical (1);Armadillo-type fold (1);	0.322569	0.32533	N	0.005971	T	0.66366	0.2782	L	0.37800	1.135	0.44188	D	0.997007	P;P;P	0.52463	0.882;0.953;0.937	B;B;B	0.42282	0.15;0.382;0.291	T	0.62129	-0.6919	10	0.15499	T	0.54	0.4573	11.6185	0.51104	0.0835:0.0:0.9165:0.0	.	75;467;488	Q14BN3;Q13835-2;Q13835	.;.;PKP1_HUMAN	T	467;488;488	ENSP00000356293:A467T;ENSP00000263946:A488T;ENSP00000295597:A488T	ENSP00000263946:A488T	A	+	1	0	PKP1	199557780	0.697000	0.27767	0.661000	0.29709	0.874000	0.50279	1.454000	0.35178	1.173000	0.42796	0.650000	0.86243	GCC		0.617	PKP1-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000086897.1	NM_000299		7	32	0	0	0	1	0	7	32					A	201291157	G	A	201291157	3	1	435	1	0	0	0	0	1	0	0	0	11984	1087	38	1	1496	1	PKP1	1	201291157	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	329676	201291157	47959464	787	21712											
PKP1	5317	broad.mit.edu	37	chr1	201292200	201292200	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	aaccccaagggcagcggctgGttgtaccattcagatgccat	10	8	11	12	1	1	1	1	0	0	1	1	1	1	1	4	3	4	4	4	3	3	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:201292200G>A	ENST00000352845.3	+	10	1626	c.1626G>A	c.(1624-1626)tgG>tgA	p.W542*	PKP1_ENST00000367324.3_Nonsense_Mutation_p.W521*|PKP1_ENST00000263946.3_Nonsense_Mutation_p.W542*			Q13835	PKP1_HUMAN	plakophilin 1	542					apoptotic process (GO:0006915)|cell adhesion (GO:0007155)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|intermediate filament bundle assembly (GO:0045110)|multicellular organismal development (GO:0007275)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)	desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	intermediate filament binding (GO:0019215)|lamin binding (GO:0005521)|signal transducer activity (GO:0004871)|structural constituent of epidermis (GO:0030280)			NS(2)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|ovary(5)|prostate(1)	22						GCAGCGGCTGGTTGTACCATT	0.577																																						ENST00000263946.3																			0				NS(2)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|ovary(5)|prostate(1)	22						c.(1624-1626)tgG>tgA		plakophilin 1 (ectodermal dysplasia/skin fragility syndrome)							149	149	149					1																	201292200		2203	4300	6503	SO:0001587	stop_gained	5317				cell adhesion|cellular component disassembly involved in apoptosis|multicellular organismal development	desmosome|intermediate filament|nucleus	intermediate filament binding|signal transducer activity|structural constituent of epidermis	g.chr1:201292200G>A	X79293	CCDS30966.1, CCDS30967.1	1q32	2014-06-18	2014-06-18		ENSG00000081277	ENSG00000081277		"Armadillo repeat containing"	9023	protein-coding gene	gene with protein product	"ectodermal dysplasia/skin fragility syndrome"	601975	"plakophilin 1 (ectodermal dysplasia/skin fragility syndrome)"			9272178	Standard	NM_001005337		Approved	B6P	uc001gwd.3	Q13835	OTTHUMG00000035729	ENST00000352845.3:c.1626G>A	1.37:g.201292200G>A	ENSP00000295597:p.Trp542*					PKP1_ENST00000367324.3_Nonsense_Mutation_p.W521*|PKP1_ENST00000352845.3_Nonsense_Mutation_p.W542*	p.W542*	NM_000299.3	NP_000290.2	Q13835	PKP1_HUMAN			10	1877	+			542					O00645|Q14CA0|Q15152	Nonsense_Mutation	SNP	ENST00000352845.3	37	c.1626G>A	CCDS30966.1	.	.	.	.	.	.	.	.	.	.	G	36	5.672726	0.96754	.	.	ENSG00000081277	ENST00000367324;ENST00000263946;ENST00000352845	.	.	.	5.19	5.19	0.71726	.	0.127419	0.64402	D	0.000017	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-15.4921	13.9742	0.64262	0.0:0.0:0.8483:0.1517	.	.	.	.	X	521;542;542	.	ENSP00000263946:W542X	W	+	3	0	PKP1	199558823	1.000000	0.71417	1.000000	0.80357	0.656000	0.38851	7.285000	0.78660	2.571000	0.86741	0.591000	0.81541	TGG		0.577	PKP1-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000086897.1	NM_000299		47	55	0	0	0	1	0	47	55					A	201292200	G	A	201292200	4	1	435	1	0	0	0	0	0	1	0	0	11984	1270	44	3	1664	3	PKP1	1	201292200	Nonsense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	1043	201292200	47958421	788	21713											
LAD1	3898	broad.mit.edu	37	chr1	201356061	201356061	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttcccgactcagtctccggCgaggtgggatttccagttcc	5	11	12	13	3	2	0	1	0	1	0	6	3	5	1	4	3	0	2	4	3	0	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:201356061C>T	ENST00000391967.2	-	3	729	c.428G>A	c.(427-429)cGc>cAc	p.R143H	LAD1_ENST00000367313.3_Missense_Mutation_p.R157H	NM_005558.3	NP_005549.2	O00515	LAD1_HUMAN	ladinin 1	143						basement membrane (GO:0005604)	structural molecule activity (GO:0005198)			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(6)|prostate(2)|skin(2)	19						CAGTCTCCGGCGAGGTGGGAT	0.617																																						ENST00000391967.2																			0				breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(6)|prostate(2)|skin(2)	19						c.(427-429)cGc>cAc		ladinin 1							44	52	50					1																	201356061		2203	4300	6503	SO:0001583	missense	3898					basement membrane	structural molecule activity	g.chr1:201356061C>T	U42408	CCDS1410.1	1q25.1-q32.3	2008-02-05			ENSG00000159166	ENSG00000159166			6472	protein-coding gene	gene with protein product		602314				8618013, 9119369	Standard	NM_005558		Approved		uc001gwm.3	O00515	OTTHUMG00000035737	ENST00000391967.2:c.428G>A	1.37:g.201356061C>T	ENSP00000375829:p.Arg143His					LAD1_ENST00000367313.3_Missense_Mutation_p.R157H	p.R143H	NM_005558.3	NP_005549.2	O00515	LAD1_HUMAN			3	729	-			143					O95614|Q96GD8	Missense_Mutation	SNP	ENST00000391967.2	37	c.428G>A	CCDS1410.1	.	.	.	.	.	.	.	.	.	.	C	10.46	1.355411	0.24512	.	.	ENSG00000159166	ENST00000391967;ENST00000367313	T;T	0.19394	2.21;2.15	5.3	2.39	0.29439	.	0.583964	0.16432	N	0.214675	T	0.13372	0.0324	L	0.33485	1.01	0.09310	N	1	B;B	0.32128	0.357;0.163	B;B	0.26693	0.072;0.042	T	0.16988	-1.0384	10	0.36615	T	0.2	-7.2347	7.5006	0.27516	0.0:0.7269:0.0:0.2731	.	157;143	E9PDI4;O00515	.;LAD1_HUMAN	H	143;157	ENSP00000375829:R143H;ENSP00000356282:R157H	ENSP00000356282:R157H	R	-	2	0	LAD1	199622684	0.013000	0.17824	0.173000	0.22940	0.458000	0.32498	0.189000	0.17037	0.220000	0.20860	0.655000	0.94253	CGC		0.617	LAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086946.1	NM_005558		22	56	0	0	0	1	0	22	56					T	201356061	C	T	201356061	3	4	435	1	0	0	0	0	1	0	0	0	8599	768	27	1	1157	1	LAD1	1	201356061	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	63861	201356061	47894560	789	21714											
IPO9	55705	broad.mit.edu	37	chr1	201835898	201835898	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagtctcagagagtacccacGtgctccagcccttcctcccc	8	8	7	18	1	1	1	1	0	1	1	5	2	4	1	6	0	3	2	6	0	2	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:201835898G>A	ENST00000361565.4	+	15	1735	c.1666G>A	c.(1666-1668)Gtg>Atg	p.V556M		NM_018085.4	NP_060555.2	Q96P70	IPO9_HUMAN	importin 9	556					protein import into nucleus (GO:0006606)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	histone binding (GO:0042393)|protein transporter activity (GO:0008565)			cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	38						GAGTACCCACGTGCTCCAGCC	0.453																																						ENST00000361565.4																			0				cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	38						c.(1666-1668)Gtg>Atg		importin 9							116	120	119					1																	201835898		2203	4300	6503	SO:0001583	missense	55705				protein import into nucleus	cytoplasm|nucleus	histone binding|protein transporter activity	g.chr1:201835898G>A	AF410465	CCDS1415.1	1q31.3	2008-02-05			ENSG00000198700	ENSG00000198700		"Importins"	19425	protein-coding gene	gene with protein product						11823430, 10574461	Standard	NM_018085		Approved	Imp9, FLJ10402	uc001gwz.3	Q96P70	OTTHUMG00000035805	ENST00000361565.4:c.1666G>A	1.37:g.201835898G>A	ENSP00000354742:p.Val556Met						p.V556M	NM_018085.4	NP_060555.2	Q96P70	IPO9_HUMAN			15	1735	+			556					B1ASV5|Q8N1Y1|Q8N3I2|Q8NCG9|Q96SU6|Q9NW01|Q9P0A8|Q9ULM8	Missense_Mutation	SNP	ENST00000361565.4	37	c.1666G>A	CCDS1415.1	.	.	.	.	.	.	.	.	.	.	G	14.19	2.460826	0.43736	.	.	ENSG00000198700	ENST00000361565	T	0.68479	-0.33	5.84	4.93	0.64822	Armadillo-like helical (1);Armadillo-type fold (1);	0.117336	0.64402	D	0.000020	T	0.45955	0.1368	N	0.21448	0.665	0.58432	D	0.999999	P	0.37688	0.605	B	0.19391	0.025	T	0.45440	-0.9261	10	0.31617	T	0.26	-11.8837	12.8372	0.57780	0.0791:0.0:0.9209:0.0	.	556	Q96P70	IPO9_HUMAN	M	556	ENSP00000354742:V556M	ENSP00000354742:V556M	V	+	1	0	IPO9	200102521	1.000000	0.71417	0.911000	0.35937	0.956000	0.61745	4.986000	0.63851	1.472000	0.48140	0.591000	0.81541	GTG		0.453	IPO9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087088.1	NM_018085		28	41	0	0	0	1	0	28	41					A	201835898	G	A	201835898	3	1	435	1	0	0	0	0	1	0	0	0	7799	1145	40	1	1724	1	IPO9	1	201835898	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	479837	201835898	47414723	790	21715											
RNPEP	6051	broad.mit.edu	37	chr1	201972553	201972553	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctaccagctggtctacttcCtggataagatcctccagaaa	11	10	7	13	0	1	2	0	0	1	2	4	3	4	3	5	2	3	1	5	2	4	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:201972553C>T	ENST00000295640.4	+	9	1658	c.1615C>T	c.(1615-1617)Ctg>Ttg	p.L539L	RP11-465N4.4_ENST00000415582.1_RNA|RNPEP_ENST00000367286.3_Silent_p.L500L|RNPEP_ENST00000471105.1_3'UTR|RP11-465N4.4_ENST00000419190.1_RNA	NM_020216.3	NP_064601.3	Q9H4A4	AMPB_HUMAN	arginyl aminopeptidase (aminopeptidase B)	539					leukotriene biosynthetic process (GO:0019370)|proteolysis (GO:0006508)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	aminopeptidase activity (GO:0004177)|epoxide hydrolase activity (GO:0004301)|metalloexopeptidase activity (GO:0008235)|zinc ion binding (GO:0008270)			breast(1)|endometrium(4)|large_intestine(4)|lung(6)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21				KIRC - Kidney renal clear cell carcinoma(1967;3.23e-08)|Colorectal(1306;0.005)		GGTCTACTTCCTGGATAAGAT	0.547																																					GBM(19;39 479 7473 13131 19462)	ENST00000295640.4																			0				breast(1)|endometrium(4)|large_intestine(4)|lung(6)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(1615-1617)Ctg>Ttg		arginyl aminopeptidase (aminopeptidase B)							74	62	66					1																	201972553		2203	4300	6503	SO:0001819	synonymous_variant	6051				leukotriene biosynthetic process		epoxide hydrolase activity|zinc ion binding	g.chr1:201972553C>T	BC001064	CCDS1418.1	1q32	2008-02-05			ENSG00000176393	ENSG00000176393	3.4.11.6		10078	protein-coding gene	gene with protein product		602675				9533033, 10467730	Standard	NM_020216		Approved		uc001gxd.3	Q9H4A4	OTTHUMG00000035866	ENST00000295640.4:c.1615C>T	1.37:g.201972553C>T						RP11-465N4.4_ENST00000419190.1_RNA|RNPEP_ENST00000471105.1_3'UTR|RNPEP_ENST00000367286.3_Silent_p.L500L	p.L539L	NM_020216.3	NP_064601.3	Q9H4A4	AMPB_HUMAN		KIRC - Kidney renal clear cell carcinoma(1967;3.23e-08)|Colorectal(1306;0.005)	9	1658	+			539					Q9BVM9|Q9H1D4|Q9NPT7	Silent	SNP	ENST00000295640.4	37	c.1615C>T	CCDS1418.1																																																																																				0.547	RNPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087345.1	NM_020216		9	13	0	0	0	1	0	9	13					T	201972553	C	T	201972553	2	4	435	1	0	0	0	0	0	0	0	1	13509	680	24	3		3	RNPEP	1	201972553	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	136655	201972553	47278068	791	21716											
PTPN7	5778	broad.mit.edu	37	chr1	202124675	202124675	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actcactcggatgtagttggCattgatgtaatctccgtcct	8	14	9	10	2	2	1	1	1	1	0	5	2	3	2	2	2	0	4	2	2	2	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:202124675C>T	ENST00000308986.5	-	5	584	c.454G>A	c.(454-456)Gcc>Acc	p.A152T	PTPN7_ENST00000543735.1_5'UTR|PTPN7_ENST00000492977.1_5'UTR|PTPN7_ENST00000367279.4_Missense_Mutation_p.A191T|PTPN7_ENST00000544762.1_Intron|PTPN7_ENST00000309017.3_Missense_Mutation_p.A257T			P35236	PTN7_HUMAN	protein tyrosine phosphatase, non-receptor type 7	152	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)	protein tyrosine phosphatase activity (GO:0004725)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(2)|skin(1)|soft_tissue(1)|urinary_tract(1)	13						ATGTAGTTGGCATTGATGTAA	0.547																																						ENST00000309017.3																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(2)|skin(1)|soft_tissue(1)|urinary_tract(1)	13						c.(769-771)Gcc>Acc		protein tyrosine phosphatase, non-receptor type 7							91	74	79					1																	202124675		2203	4300	6503	SO:0001583	missense	5778					cytosol|internal side of plasma membrane	protein binding|protein tyrosine phosphatase activity	g.chr1:202124675C>T	BC001746	CCDS1422.1, CCDS1423.1, CCDS1423.2	1q32.1	2011-06-09			ENSG00000143851	ENSG00000143851		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"	9659	protein-coding gene	gene with protein product		176889				1510684	Standard	NM_002832		Approved	HEPTP, LC-PTP	uc010ppx.2	P35236	OTTHUMG00000035931	ENST00000308986.5:c.454G>A	1.37:g.202124675C>T	ENSP00000311133:p.Ala152Thr					PTPN7_ENST00000492977.1_5'UTR|PTPN7_ENST00000367279.4_Missense_Mutation_p.A191T|PTPN7_ENST00000544762.1_Intron|PTPN7_ENST00000308986.5_Missense_Mutation_p.A152T|PTPN7_ENST00000543735.1_5'UTR	p.A257T	NM_001199797.1|NM_002832.3	NP_001186726.1|NP_002823.3	P35236	PTN7_HUMAN			5	1542	-			152			Tyrosine-protein phosphatase.		B3KXE1|Q53XK4|Q5SXQ0|Q5SXQ1|Q9BV05	Missense_Mutation	SNP	ENST00000308986.5	37	c.769G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	35|35	5.425450|5.425450	0.96131|0.96131	.|.	.|.	ENSG00000143851|ENSG00000143851	ENST00000367279;ENST00000309017;ENST00000308986;ENST00000477554;ENST00000476061;ENST00000467283;ENST00000464870|ENST00000477625	T;T;T;T;T;T;T|.	0.59364|.	0.27;0.27;0.27;0.27;0.54;0.54;0.54|.	5.13|5.13	5.13|5.13	0.70059|0.70059	Protein-tyrosine phosphatase, receptor/non-receptor type (4);|.	0.000000|.	0.56097|.	D|.	0.000026|.	D|D	0.91965|0.91965	0.7455|0.7455	H|H	0.99712|0.99712	4.72|4.72	0.80722|0.80722	D|D	1|1	D;D;D;D;D|.	0.89917|.	1.0;1.0;1.0;1.0;1.0|.	D;D;D;D;D|.	0.97110|.	1.0;1.0;1.0;1.0;1.0|.	D|D	0.95812|0.95812	0.8842|0.8842	10|5	0.87932|.	D|.	0|.	-19.7549|-19.7549	18.5631|18.5631	0.91108|0.91108	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	226;100;104;152;191|.	B4DZD9;B4DVF0;Q8NFX3;P35236;P35236-2|.	.;.;.;PTN7_HUMAN;.|.	T|Y	191;257;152;233;151;151;152|83	ENSP00000356248:A191T;ENSP00000309116:A257T;ENSP00000311133:A152T;ENSP00000418416:A233T;ENSP00000419993:A151T;ENSP00000418837:A151T;ENSP00000420434:A152T|.	ENSP00000311133:A152T|.	A|C	-|-	1|2	0|0	PTPN7|PTPN7	200391298|200391298	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.854000|0.854000	0.48673|0.48673	7.452000|7.452000	0.80683|0.80683	2.379000|2.379000	0.81126|0.81126	0.563000|0.563000	0.77884|0.77884	GCC|TGC		0.547	PTPN7-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_002832		13	29	0	0	0	1	0	13	29					T	202124675	C	T	202124675	3	4	435	1	0	0	0	0	1	0	0	0	12793	710	25	3	652	3	PTPN7	1	202124675	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	152122	202124675	47125946	792	21717											
PTPN7	5778	broad.mit.edu	37	chr1	202127379	202127379	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcacagagcagatgggttctAcggcccccagggaccgaacg	10	5	13	13	3	2	2	1	0	1	2	2	4	2	3	3	3	3	2	3	3	2	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:202127379A>G	ENST00000308986.5	-	3	303	c.173T>C	c.(172-174)gTa>gCa	p.V58A	PTPN7_ENST00000543735.1_Intron|PTPN7_ENST00000492977.1_5'UTR|PTPN7_ENST00000367279.4_Missense_Mutation_p.V97A|PTPN7_ENST00000544762.1_5'UTR|PTPN7_ENST00000309017.3_Missense_Mutation_p.V163A			P35236	PTN7_HUMAN	protein tyrosine phosphatase, non-receptor type 7	58					peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)	protein tyrosine phosphatase activity (GO:0004725)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(2)|skin(1)|soft_tissue(1)|urinary_tract(1)	13						GATGGGTTCTACGGCCCCCAG	0.617																																						ENST00000309017.3																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(2)|skin(1)|soft_tissue(1)|urinary_tract(1)	13						c.(487-489)gTa>gCa		protein tyrosine phosphatase, non-receptor type 7							51	51	51					1																	202127379		2203	4300	6503	SO:0001583	missense	5778					cytosol|internal side of plasma membrane	protein binding|protein tyrosine phosphatase activity	g.chr1:202127379A>G	BC001746	CCDS1422.1, CCDS1423.1, CCDS1423.2	1q32.1	2011-06-09			ENSG00000143851	ENSG00000143851		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"	9659	protein-coding gene	gene with protein product		176889				1510684	Standard	NM_002832		Approved	HEPTP, LC-PTP	uc010ppx.2	P35236	OTTHUMG00000035931	ENST00000308986.5:c.173T>C	1.37:g.202127379A>G	ENSP00000311133:p.Val58Ala					PTPN7_ENST00000492977.1_5'UTR|PTPN7_ENST00000367279.4_Missense_Mutation_p.V97A|PTPN7_ENST00000544762.1_5'UTR|PTPN7_ENST00000308986.5_Missense_Mutation_p.V58A|PTPN7_ENST00000543735.1_Intron	p.V163A	NM_001199797.1|NM_002832.3	NP_001186726.1|NP_002823.3	P35236	PTN7_HUMAN			3	1261	-			58			Tyrosine-protein phosphatase.		B3KXE1|Q53XK4|Q5SXQ0|Q5SXQ1|Q9BV05	Missense_Mutation	SNP	ENST00000308986.5	37	c.488T>C		.	.	.	.	.	.	.	.	.	.	A	12.80	2.047097	0.36085	.	.	ENSG00000143851	ENST00000367279;ENST00000309017;ENST00000308986;ENST00000477554;ENST00000476061;ENST00000467283;ENST00000464870;ENST00000486116;ENST00000492451	T;T;T;T;T;T;T;T;T	0.59502	3.74;3.69;3.78;3.71;2.75;1.46;1.47;0.87;0.26	4.9	4.9	0.64082	.	0.000000	0.53938	D	0.000053	T	0.48804	0.1520	L	0.50333	1.59	0.80722	D	1	B;B;B;B	0.26195	0.112;0.103;0.048;0.144	B;B;B;B	0.32928	0.05;0.047;0.041;0.155	T	0.35251	-0.9796	10	0.08381	T	0.77	.	9.8709	0.41172	0.919:0.0:0.081:0.0	.	132;10;58;97	B4DZD9;Q8NFX3;P35236;P35236-2	.;.;PTN7_HUMAN;.	A	97;163;58;139;57;58;58;58;58	ENSP00000356248:V97A;ENSP00000309116:V163A;ENSP00000311133:V58A;ENSP00000418416:V139A;ENSP00000419993:V57A;ENSP00000418837:V58A;ENSP00000420434:V58A;ENSP00000417350:V58A;ENSP00000417410:V58A	ENSP00000311133:V58A	V	-	2	0	PTPN7	200394002	0.997000	0.39634	0.909000	0.35828	0.492000	0.33523	3.701000	0.54793	1.836000	0.53414	0.260000	0.18958	GTA		0.617	PTPN7-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_002832		3	20	0	0	0	1	0	3	20					G	202127379	A	G	202127379	3	3	435	1	0	0	0	0	1	0	0	0	12793	391	14	4	941	4	PTPN7	1	202127379	Missense_Mutation	SNP	A	TCGA-XK-AAIW-01A-11D-A41K-08	2704	202127379	47123242	793	21718											
PTPN7	5778	broad.mit.edu	37	chr1	202128422	202128422	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atctcacctctcctgcagtcGcacatgcttcttggctggcg	5	12	9	15	2	3	0	1	0	3	0	6	0	3	0	2	2	2	4	2	2	0	2	rs149516769		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:202128422G>A	ENST00000308986.5	-	2	239	c.109C>T	c.(109-111)Cga>Tga	p.R37*	PTPN7_ENST00000543735.1_5'UTR|PTPN7_ENST00000492977.1_5'Flank|PTPN7_ENST00000367279.4_Nonsense_Mutation_p.R76*|PTPN7_ENST00000544762.1_5'UTR|PTPN7_ENST00000309017.3_Nonsense_Mutation_p.R142*			P35236	PTN7_HUMAN	protein tyrosine phosphatase, non-receptor type 7	37					peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)	protein tyrosine phosphatase activity (GO:0004725)	p.R76*(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(2)|skin(1)|soft_tissue(1)|urinary_tract(1)	13						TCCTGCAGTCGCACATGCTTC	0.632																																						ENST00000309017.3																			1	Substitution - Nonsense(1)	p.R76*(1)	lung(1)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(2)|skin(1)|soft_tissue(1)|urinary_tract(1)	13						c.(424-426)Cga>Tga		protein tyrosine phosphatase, non-receptor type 7							56	52	53					1																	202128422		2203	4300	6503	SO:0001587	stop_gained	5778					cytosol|internal side of plasma membrane	protein binding|protein tyrosine phosphatase activity	g.chr1:202128422G>A	BC001746	CCDS1422.1, CCDS1423.1, CCDS1423.2	1q32.1	2011-06-09			ENSG00000143851	ENSG00000143851		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"	9659	protein-coding gene	gene with protein product		176889				1510684	Standard	NM_002832		Approved	HEPTP, LC-PTP	uc010ppx.2	P35236	OTTHUMG00000035931	ENST00000308986.5:c.109C>T	1.37:g.202128422G>A	ENSP00000311133:p.Arg37*					PTPN7_ENST00000367279.4_Nonsense_Mutation_p.R76*|PTPN7_ENST00000544762.1_5'UTR|PTPN7_ENST00000308986.5_Nonsense_Mutation_p.R37*|PTPN7_ENST00000543735.1_5'UTR	p.R142*	NM_001199797.1|NM_002832.3	NP_001186726.1|NP_002823.3	P35236	PTN7_HUMAN			2	1197	-			37			Tyrosine-protein phosphatase.		B3KXE1|Q53XK4|Q5SXQ0|Q5SXQ1|Q9BV05	Nonsense_Mutation	SNP	ENST00000308986.5	37	c.424C>T		.	.	.	.	.	.	.	.	.	.	G	32	5.123397	0.94429	.	.	ENSG00000143851	ENST00000367279;ENST00000309017;ENST00000308986;ENST00000477554;ENST00000476061;ENST00000467283;ENST00000464870;ENST00000435759;ENST00000486116;ENST00000492451	.	.	.	4.91	3.89	0.44902	.	0.000000	0.52532	D	0.000069	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.20046	T	0.44	.	13.936	0.64026	0.0:0.0:0.8379:0.1621	.	.	.	.	X	76;142;37;118;36;37;37;37;37;37	.	ENSP00000311133:R37X	R	-	1	2	PTPN7	200395045	0.213000	0.23551	1.000000	0.80357	0.214000	0.24535	0.363000	0.20301	2.277000	0.76020	0.555000	0.69702	CGA		0.632	PTPN7-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_002832		13	15	0	0	0	1	0	13	15					A	202128422	G	A	202128422	4	1	435	1	0	0	0	0	0	1	0	0	12793	1095	38	1	1009	1	PTPN7	1	202128422	Nonsense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	1043	202128422	47122199	794	21719											
PTPN7	5778	broad.mit.edu	37	chr1	202128602	202128602	+	Intron	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cctgaaagacagggccctccGctgctgttctctggcctgcc	5	9	11	16	1	1	2	0	1	1	1	3	2	2	2	5	2	2	3	5	2	1	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:202128602G>A	ENST00000308986.5	-	2	79				PTPN7_ENST00000543735.1_Intron|PTPN7_ENST00000492977.1_5'Flank|PTPN7_ENST00000367279.4_Missense_Mutation_p.R16W|PTPN7_ENST00000544762.1_Intron|PTPN7_ENST00000309017.3_Intron			P35236	PTN7_HUMAN	protein tyrosine phosphatase, non-receptor type 7						peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)	protein tyrosine phosphatase activity (GO:0004725)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(2)|skin(1)|soft_tissue(1)|urinary_tract(1)	13						AGGGCCCTCCGCTGCTGTTCT	0.637																																						ENST00000367279.4																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(2)|skin(1)|soft_tissue(1)|urinary_tract(1)	13						c.(46-48)Cgg>Tgg		protein tyrosine phosphatase, non-receptor type 7							37	38	38					1																	202128602		2203	4300	6503	SO:0001627	intron_variant	5778					cytosol|internal side of plasma membrane	protein binding|protein tyrosine phosphatase activity	g.chr1:202128602G>A	BC001746	CCDS1422.1, CCDS1423.1, CCDS1423.2	1q32.1	2011-06-09			ENSG00000143851	ENSG00000143851		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"	9659	protein-coding gene	gene with protein product		176889				1510684	Standard	NM_002832		Approved	HEPTP, LC-PTP	uc010ppx.2	P35236	OTTHUMG00000035931	ENST00000308986.5:c.52-20C>T	1.37:g.202128602G>A						PTPN7_ENST00000309017.3_Intron|PTPN7_ENST00000544762.1_Intron|PTPN7_ENST00000308986.5_Intron|PTPN7_ENST00000543735.1_Intron	p.R16W	NM_080588.2	NP_542155.1	P35236	PTN7_HUMAN			1	517	-			0					B3KXE1|Q53XK4|Q5SXQ0|Q5SXQ1|Q9BV05	Missense_Mutation	SNP	ENST00000308986.5	37	c.46C>T		.	.	.	.	.	.	.	.	.	.	G	13.09	2.134279	0.37630	.	.	ENSG00000143851	ENST00000367279	T	0.04706	3.57	4.2	3.22	0.36961	.	.	.	.	.	T	0.04998	0.0134	.	.	.	0.23113	N	0.998279	D	0.54772	0.968	B	0.40636	0.335	T	0.37979	-0.9682	8	0.72032	D	0.01	.	7.4885	0.27447	0.1355:0.0:0.8645:0.0	.	16	P35236-2	.	W	16	ENSP00000356248:R16W	ENSP00000356248:R16W	R	-	1	2	PTPN7	200395225	0.007000	0.16637	0.189000	0.23252	0.132000	0.20833	0.619000	0.24388	0.790000	0.33803	-0.402000	0.06365	CGG		0.637	PTPN7-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_002832		10	18	0	0	0	1	0	10	18					A	202128602	G	A	202128602	1	1	435	0	1	0	0	0	0	0	0	0	12793	1086	38	1		1	PTPN7	1	202128602	Intron	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	180	202128602	47122019	795	21720											
LGR6	59352	broad.mit.edu	37	chr1	202276013	202276013	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tagcggcctccaacacaaccGcatctgggaaattggagctg	11	7	11	12	2	1	0	0	0	1	0	2	2	2	2	3	3	4	2	3	3	4	2	rs527790135		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:202276013G>A	ENST00000367278.3	+	13	1243	c.1154G>A	c.(1153-1155)cGc>cAc	p.R385H	LGR6_ENST00000255432.7_Missense_Mutation_p.R333H|LGR6_ENST00000308543.3_3'UTR|LGR6_ENST00000439764.2_Missense_Mutation_p.R246H	NM_001017403.1	NP_001017403.1	Q9HBX8	LGR6_HUMAN	leucine-rich repeat containing G protein-coupled receptor 6	385					G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell migration (GO:0030335)|positive regulation of Wnt signaling pathway (GO:0030177)|Wnt signaling pathway (GO:0016055)	integral component of plasma membrane (GO:0005887)|trans-Golgi network membrane (GO:0032588)|vesicle (GO:0031982)	transmembrane signaling receptor activity (GO:0004888)			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	36						CAACACAACCGCATCTGGGAA	0.637													G|||	1	0.000199681	0	0	5008	,	,		16861	0.001		0	False		,,,				2504	0					ENST00000367278.3																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	36						c.(1153-1155)cGc>cAc		leucine-rich repeat containing G protein-coupled receptor 6							56	54	54					1																	202276013		2203	4300	6503	SO:0001583	missense	59352					integral to membrane|plasma membrane	protein-hormone receptor activity	g.chr1:202276013G>A	AF190501	CCDS1424.1, CCDS30971.1, CCDS30972.1	1q32.1	2012-08-21	2011-01-25		ENSG00000133067	ENSG00000133067		"GPCR / Class A : Orphans"	19719	protein-coding gene	gene with protein product		606653	"leucine-rich repeat-containing G protein-coupled receptor 6"			10935549	Standard	XM_005245404		Approved	FLJ14471	uc001gxu.3	Q9HBX8	OTTHUMG00000041383	ENST00000367278.3:c.1154G>A	1.37:g.202276013G>A	ENSP00000356247:p.Arg385His					LGR6_ENST00000439764.2_Missense_Mutation_p.R246H|LGR6_ENST00000308543.3_3'UTR|LGR6_ENST00000255432.7_Missense_Mutation_p.R333H	p.R385H	NM_001017403.1	NP_001017403.1	Q9HBX8	LGR6_HUMAN			13	1243	+			385					Q5T509|Q5T512|Q6UY15|Q86VU0|Q96K69|Q9BYD7	Missense_Mutation	SNP	ENST00000367278.3	37	c.1154G>A	CCDS30971.1	.	.	.	.	.	.	.	.	.	.	G	12.62	1.993731	0.35131	.	.	ENSG00000133067	ENST00000367278;ENST00000255432;ENST00000439764	T;T;T	0.47177	0.85;0.85;0.85	5.62	2.33	0.28932	.	0.397240	0.28510	N	0.015084	T	0.37758	0.1015	L	0.41961	1.31	0.28527	N	0.912796	B;B;B	0.20671	0.047;0.006;0.016	B;B;B	0.16289	0.006;0.005;0.015	T	0.36237	-0.9756	10	0.51188	T	0.08	.	10.8742	0.46902	0.2373:0.0:0.7627:0.0	.	246;333;385	Q9HBX8-1;Q9HBX8-2;Q9HBX8	.;.;LGR6_HUMAN	H	385;333;246	ENSP00000356247:R385H;ENSP00000255432:R333H;ENSP00000387869:R246H	ENSP00000255432:R333H	R	+	2	0	LGR6	200542636	1.000000	0.71417	1.000000	0.80357	0.663000	0.39108	1.793000	0.38764	0.761000	0.33130	-0.751000	0.03497	CGC		0.637	LGR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000099143.1	NM_021636		7	18	0	0	0	1	0	7	18					A	202276013	G	A	202276013	3	1	435	1	0	0	0	0	1	0	0	0	8758	1087	38	1	1351	1	LGR6	1	202276013	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	147411	202276013	46974608	796	21721											
LGR6	59352	broad.mit.edu	37	chr1	202287631	202287631	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcagccctgggcttcaccGtggccctggtgatgatgaac	7	8	13	13	1	1	3	1	3	0	0	1	3	1	3	3	3	3	2	3	3	1	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:202287631G>A	ENST00000367278.3	+	18	2289	c.2200G>A	c.(2200-2202)Gtg>Atg	p.V734M	LGR6_ENST00000255432.7_Missense_Mutation_p.V682M|LGR6_ENST00000439764.2_Missense_Mutation_p.V595M	NM_001017403.1	NP_001017403.1	Q9HBX8	LGR6_HUMAN	leucine-rich repeat containing G protein-coupled receptor 6	734					G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell migration (GO:0030335)|positive regulation of Wnt signaling pathway (GO:0030177)|Wnt signaling pathway (GO:0016055)	integral component of plasma membrane (GO:0005887)|trans-Golgi network membrane (GO:0032588)|vesicle (GO:0031982)	transmembrane signaling receptor activity (GO:0004888)			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	36						GGGCTTCACCGTGGCCCTGGT	0.657																																						ENST00000367278.3																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	36						c.(2200-2202)Gtg>Atg		leucine-rich repeat containing G protein-coupled receptor 6							64	54	57					1																	202287631		2203	4300	6503	SO:0001583	missense	59352					integral to membrane|plasma membrane	protein-hormone receptor activity	g.chr1:202287631G>A	AF190501	CCDS1424.1, CCDS30971.1, CCDS30972.1	1q32.1	2012-08-21	2011-01-25		ENSG00000133067	ENSG00000133067		"GPCR / Class A : Orphans"	19719	protein-coding gene	gene with protein product		606653	"leucine-rich repeat-containing G protein-coupled receptor 6"			10935549	Standard	XM_005245404		Approved	FLJ14471	uc001gxu.3	Q9HBX8	OTTHUMG00000041383	ENST00000367278.3:c.2200G>A	1.37:g.202287631G>A	ENSP00000356247:p.Val734Met					LGR6_ENST00000439764.2_Missense_Mutation_p.V595M|LGR6_ENST00000255432.7_Missense_Mutation_p.V682M	p.V734M	NM_001017403.1	NP_001017403.1	Q9HBX8	LGR6_HUMAN			18	2289	+			734					Q5T509|Q5T512|Q6UY15|Q86VU0|Q96K69|Q9BYD7	Missense_Mutation	SNP	ENST00000367278.3	37	c.2200G>A	CCDS30971.1	.	.	.	.	.	.	.	.	.	.	G	16.65	3.181566	0.57800	.	.	ENSG00000133067	ENST00000367278;ENST00000255432;ENST00000439764	T;T;T	0.39056	1.1;1.1;1.1	4.36	4.36	0.52297	.	0.155671	0.42682	D	0.000666	T	0.63954	0.2555	M	0.72353	2.195	0.37517	D	0.917389	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.83275	0.964;0.996;0.996	T	0.68922	-0.5281	10	0.44086	T	0.13	.	17.488	0.87693	0.0:0.0:1.0:0.0	.	595;682;734	Q9HBX8-1;Q9HBX8-2;Q9HBX8	.;.;LGR6_HUMAN	M	734;682;595	ENSP00000356247:V734M;ENSP00000255432:V682M;ENSP00000387869:V595M	ENSP00000255432:V682M	V	+	1	0	LGR6	200554254	1.000000	0.71417	0.999000	0.59377	0.816000	0.46133	5.582000	0.67477	2.442000	0.82660	0.485000	0.47835	GTG		0.657	LGR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000099143.1	NM_021636		10	18	0	0	0	1	0	10	18					A	202287631	G	A	202287631	3	1	435	1	0	0	0	0	1	0	0	0	8758	1145	40	1	2417	1	LGR6	1	202287631	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	11618	202287631	46962990	797	21722											
KDM5B	10765	broad.mit.edu	37	chr1	202710525	202710525	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagactcttggctttgtcgTcccagtgctctgacactgtg	5	13	12	11	1	2	2	0	1	2	1	4	3	3	2	1	2	1	2	1	2	0	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:202710525T>C	ENST00000367265.3	-	19	4079	c.2915A>G	c.(2914-2916)gAc>gGc	p.D972G	KDM5B_ENST00000367264.2_Missense_Mutation_p.D1008G	NM_006618.3	NP_006609.3	Q9UGL1	KDM5B_HUMAN	lysine (K)-specific demethylase 5B	972					histone H3-K4 demethylation (GO:0034720)|histone H3-K4 demethylation, trimethyl-H3-K4-specific (GO:0034721)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone demethylase activity (H3-dimethyl-K4 specific) (GO:0034648)|histone demethylase activity (H3-trimethyl-K4 specific) (GO:0034647)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			breast(2)|ovary(2)|skin(1)|urinary_tract(1)	6						GGCTTTGTCGTCCCAGTGCTC	0.522																																						ENST00000367265.3																			0				breast(2)|ovary(2)|skin(1)|urinary_tract(1)	6						c.(2914-2916)gAc>gGc		lysine (K)-specific demethylase 5B							49	51	51					1																	202710525		2203	4300	6503	SO:0001583	missense	10765				negative regulation of transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-trimethyl-K4 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding	g.chr1:202710525T>C	AJ243706	CCDS30974.1	1q32.1	2014-06-12	2009-04-06	2009-04-06	ENSG00000117139	ENSG00000117139		"Chromatin-modifying enzymes / K-demethylases", "Zinc fingers, PHD-type"	18039	protein-coding gene	gene with protein product	"cancer/testis antigen 31", "protein phosphatase 1, regulatory subunit 98"	605393	"Jumonji, AT rich interactive domain 1B (RBP2-like)", "jumonji, AT rich interactive domain 1B"	JARID1B		11483573, 11478881	Standard	NM_006618		Approved	RBBP2H1A, PLU-1, CT31, PPP1R98	uc001gyf.3	Q9UGL1	OTTHUMG00000041401	ENST00000367265.3:c.2915A>G	1.37:g.202710525T>C	ENSP00000356234:p.Asp972Gly					KDM5B_ENST00000367264.2_Missense_Mutation_p.D1008G	p.D972G	NM_006618.3	NP_006609.3	Q9UGL1	KDM5B_HUMAN			19	4079	-			972					O95811|Q15752|Q9Y3Q5	Missense_Mutation	SNP	ENST00000367265.3	37	c.2915A>G	CCDS30974.1	.	.	.	.	.	.	.	.	.	.	T	29.2	4.982865	0.93044	.	.	ENSG00000117139	ENST00000367265;ENST00000538292;ENST00000367264;ENST00000235790	T;T;T	0.44881	0.91;0.91;0.91	5.95	5.95	0.96441	Lysine-specific demethylase-like domain (1);	0.042740	0.85682	D	0.000000	T	0.47525	0.1450	L	0.36672	1.1	0.80722	D	1	P;P	0.52061	0.95;0.888	P;P	0.51701	0.555;0.677	T	0.48525	-0.9028	10	0.87932	D	0	-28.4875	16.4101	0.83708	0.0:0.0:0.0:1.0	.	1008;972	Q9UGL1-2;Q9UGL1	.;KDM5B_HUMAN	G	972;814;1008;814	ENSP00000356234:D972G;ENSP00000356233:D1008G;ENSP00000235790:D814G	ENSP00000235790:D814G	D	-	2	0	KDM5B	200977148	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	8.036000	0.88901	2.280000	0.76307	0.460000	0.39030	GAC		0.522	KDM5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000099184.2	NM_006618		15	30	0	0	0	1	0	15	30					C	202710525	T	C	202710525	3	2	435	1	0	0	0	0	1	0	0	0	8134	1667	58	4	1755	4	KDM5B	1	202710525	Missense_Mutation	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	422894	202710525	46540096	798	21723											
KLHL12	59349	broad.mit.edu	37	chr1	202880299	202880299	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcatgcttcacccagttgatGacagcctcaaagactggctc	10	9	9	13	0	2	3	2	2	0	1	3	3	2	3	2	1	2	4	2	1	1	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:202880299G>A	ENST00000367261.3	-	5	818	c.600C>T	c.(598-600)gtC>gtT	p.V200V	KLHL12_ENST00000367259.1_5'Flank|KLHL12_ENST00000435533.3_Silent_p.V238V	NM_021633.2	NP_067646.1	Q53G59	KLH12_HUMAN	kelch-like family member 12	200	BACK.				COPII vesicle coating (GO:0048208)|ER to Golgi vesicle-mediated transport (GO:0006888)|protein monoubiquitination (GO:0006513)|Wnt signaling pathway (GO:0016055)	Cul3-RING ubiquitin ligase complex (GO:0031463)|ER to Golgi transport vesicle (GO:0030134)|Golgi membrane (GO:0000139)				NS(3)|breast(2)|endometrium(1)|large_intestine(1)|lung(6)|stomach(1)	14			BRCA - Breast invasive adenocarcinoma(75;0.166)			CCCAGTTGATGACAGCCTCAA	0.468																																						ENST00000367261.3																			0				NS(3)|breast(2)|endometrium(1)|large_intestine(1)|lung(6)|stomach(1)	14						c.(598-600)gtC>gtT		kelch-like family member 12							174	162	166					1																	202880299		2203	4300	6503	SO:0001819	synonymous_variant	59349				Wnt receptor signaling pathway		protein binding	g.chr1:202880299G>A	AF190900	CCDS1429.1	1q32.1	2013-01-30	2013-01-30		ENSG00000117153	ENSG00000117153		"Kelch-like", "BTB/POZ domain containing"	19360	protein-coding gene	gene with protein product		614522	"kelch-like 12 (Drosophila)"			12477932	Standard	NM_021633		Approved	C3IP1	uc001gyo.1	Q53G59	OTTHUMG00000041385	ENST00000367261.3:c.600C>T	1.37:g.202880299G>A						KLHL12_ENST00000435533.3_Silent_p.V238V	p.V200V	NM_021633.2	NP_067646.1	Q53G59	KLH12_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.166)		5	818	-			200					A6NEN8|B7Z7B8|Q9HBX5	Silent	SNP	ENST00000367261.3	37	c.600C>T	CCDS1429.1																																																																																				0.468	KLHL12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000099151.1	NM_021633		65	113	0	0	0	1	0	65	113					A	202880299	G	A	202880299	2	1	435	1	0	0	0	0	0	0	0	1	8368	1277	45	3		3	KLHL12	1	202880299	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	169774	202880299	46370322	799	21724											
ADIPOR1	51094	broad.mit.edu	37	chr1	202910745	202910745	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gccgccttctaggccgtaacGgaattcctgaaggttggaga	9	9	13	10	3	1	2	0	1	1	1	2	4	2	3	4	4	1	2	4	4	4	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:202910745G>A	ENST00000340990.5	-	8	1382	c.1084C>T	c.(1084-1086)Cgt>Tgt	p.R362C	ADIPOR1_ENST00000436244.1_Missense_Mutation_p.R362C	NM_015999.4	NP_057083.2	Q96A54	ADR1_HUMAN	adiponectin receptor 1	362					adiponectin-activated signaling pathway (GO:0033211)|fatty acid oxidation (GO:0019395)|hormone-mediated signaling pathway (GO:0009755)|leptin-mediated signaling pathway (GO:0033210)|negative regulation of cell growth (GO:0030308)|positive regulation of insulin receptor signaling pathway (GO:0046628)|positive regulation of JAK-STAT cascade (GO:0046427)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	hormone binding (GO:0042562)|protein kinase binding (GO:0019901)|receptor activity (GO:0004872)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|prostate(2)|skin(1)	16			BRCA - Breast invasive adenocarcinoma(75;0.141)			AGGCCGTAACGGAATTCCTGA	0.493																																						ENST00000340990.5																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|prostate(2)|skin(1)	16						c.(1084-1086)Cgt>Tgt		adiponectin receptor 1							78	79	79					1																	202910745		2203	4300	6503	SO:0001583	missense	51094				fatty acid oxidation|hormone-mediated signaling pathway	integral to membrane|plasma membrane	hormone binding|protein kinase binding|receptor activity	g.chr1:202910745G>A		CCDS1430.1	1q32.1	2012-08-22			ENSG00000159346	ENSG00000159346		"GPCR / Unclassified : Adiponectin receptors"	24040	protein-coding gene	gene with protein product		607945				12802337	Standard	XM_006711360		Approved	PAQR1, ACDCR1	uc001gyq.5	Q96A54	OTTHUMG00000041391	ENST00000340990.5:c.1084C>T	1.37:g.202910745G>A	ENSP00000341785:p.Arg362Cys					ADIPOR1_ENST00000436244.1_Missense_Mutation_p.R362C	p.R362C	NM_015999.4	NP_057083.2	Q96A54	ADR1_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.141)		8	1382	-			362					B3KMB0|Q53HS7|Q53YY6|Q9Y360	Missense_Mutation	SNP	ENST00000340990.5	37	c.1084C>T	CCDS1430.1	.	.	.	.	.	.	.	.	.	.	G	15.15	2.749110	0.49257	.	.	ENSG00000159346	ENST00000340990;ENST00000436244	T;T	0.26518	1.73;1.73	5.82	4.92	0.64577	.	0.000000	0.85682	D	0.000000	T	0.40222	0.1108	M	0.92459	3.31	0.80722	D	1	P	0.46395	0.877	B	0.39904	0.313	T	0.56601	-0.7952	10	0.56958	D	0.05	.	13.6268	0.62170	0.0749:0.0:0.9251:0.0	.	362	Q96A54	ADR1_HUMAN	C	362	ENSP00000341785:R362C;ENSP00000395469:R362C	ENSP00000341785:R362C	R	-	1	0	ADIPOR1	201177368	1.000000	0.71417	1.000000	0.80357	0.505000	0.33919	9.760000	0.98935	1.480000	0.48289	-0.229000	0.12294	CGT		0.493	ADIPOR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000099160.2	NM_015999		8	46	0	0	0	1	0	8	46					A	202910745	G	A	202910745	3	1	435	1	0	0	0	0	1	0	0	0	318	1116	39	2	47	2	ADIPOR1	1	202910745	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	30446	202910745	46339876	800	21725											
TMEM183A	92703	broad.mit.edu	37	chr1	202984027	202984027	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttgtttcagaagaactggaCggggctggaggagaagagta	12	9	16	4	1	1	4	1	0	0	4	1	7	1	6	0	5	1	3	0	5	4	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:202984027C>T	ENST00000367242.3	+	4	458	c.378C>T	c.(376-378)gaC>gaT	p.D126D	TMEM183A_ENST00000468449.1_3'UTR	NM_001079809.1|NM_138391.4	NP_001073277.1|NP_612400.3	Q8IXX5	T183A_HUMAN	transmembrane protein 183A	126						integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(2)|lung(1)|skin(3)	7			BRCA - Breast invasive adenocarcinoma(75;0.18)			AAGAACTGGACGGGGCTGGAG	0.398																																						ENST00000367242.3																			0				endometrium(1)|large_intestine(2)|lung(1)|skin(3)	7						c.(376-378)gaC>gaT		transmembrane protein 183A							77	76	77					1																	202984027		2203	4300	6503	SO:0001819	synonymous_variant	92703							g.chr1:202984027C>T	BC013073	CCDS1432.1	1q31.1	2008-09-09	2006-12-18	2006-12-18	ENSG00000163444	ENSG00000163444			20173	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 37"	C1orf37			Standard	NM_138391		Approved		uc001gyu.1	Q8IXX5	OTTHUMG00000042051	ENST00000367242.3:c.378C>T	1.37:g.202984027C>T						TMEM183A_ENST00000468449.1_3'UTR	p.D126D	NM_001079809.1|NM_138391.4	NP_001073277.1|NP_612400.3			BRCA - Breast invasive adenocarcinoma(75;0.18)		4	458	+								A8K5W1|Q6NW15|Q96E06	Silent	SNP	ENST00000367242.3	37	c.378C>T	CCDS1432.1																																																																																				0.398	TMEM183A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000100129.1	NM_138391		11	18	0	0	0	1	0	11	18					T	202984027	C	T	202984027	2	4	435	1	0	0	0	0	0	0	0	1	16099	535	19	1		1	TMEM183A	1	202984027	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	73282	202984027	46266594	801	21726											
PPFIA4	8497	broad.mit.edu	37	chr1	203020974	203020974	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acccccaggcgtgcatcgccGctactcggcattgagggaag	8	6	13	14	4	0	1	0	1	0	0	2	2	0	2	3	3	2	3	3	3	2	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:203020974G>A	ENST00000447715.2	+	18	2042	c.1601G>A	c.(1600-1602)cGc>cAc	p.R534H	PPFIA4_ENST00000295706.4_Missense_Mutation_p.R24H|PPFIA4_ENST00000599966.1_Missense_Mutation_p.R24H|PPFIA4_ENST00000414050.2_Missense_Mutation_p.R237H|PPFIA4_ENST00000272198.6_Missense_Mutation_p.R24H|PPFIA4_ENST00000367240.2_Missense_Mutation_p.R509H			O75335	LIPA4_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 4	534					cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|presynaptic active zone (GO:0048786)				NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(8)|lung(20)|ovary(4)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	50						GTGCATCGCCGCTACTCGGCA	0.637																																						ENST00000367240.2																			0				NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(8)|lung(20)|ovary(4)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	50						c.(1525-1527)cGc>cAc		protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 4							25	29	27					1																	203020974		2153	4258	6411	SO:0001583	missense	8497				cell communication	cell surface|cytoplasm	protein binding	g.chr1:203020974G>A	AF034801	CCDS44296.1	1q32.1	2013-01-10			ENSG00000143847	ENSG00000143847		"Sterile alpha motif (SAM) domain containing"	9248	protein-coding gene	gene with protein product	"Liprin-alpha4"	603145				9624153	Standard	XM_005245553		Approved		uc009xaj.3	O75335	OTTHUMG00000042123	ENST00000447715.2:c.1601G>A	1.37:g.203020974G>A	ENSP00000402576:p.Arg534His					PPFIA4_ENST00000272198.6_Missense_Mutation_p.R24H|PPFIA4_ENST00000414050.2_Missense_Mutation_p.R237H|PPFIA4_ENST00000599966.1_Missense_Mutation_p.R24H|PPFIA4_ENST00000447715.2_Missense_Mutation_p.R534H|PPFIA4_ENST00000295706.4_Missense_Mutation_p.R24H	p.R509H			O75335	LIPA4_HUMAN			13	2053	+			24			SAM 2.		A2RUJ5|B1APN8|B1N949|B7ZM43|O94971	Missense_Mutation	SNP	ENST00000447715.2	37	c.1526G>A		.	.	.	.	.	.	.	.	.	.	G	15.34	2.805243	0.50315	.	.	ENSG00000143847	ENST00000367240;ENST00000447715;ENST00000295706;ENST00000414050;ENST00000272198	T;T;T;T;T	0.53640	0.61;1.83;0.61;0.61;0.61	5.15	2.12	0.27331	.	0.160830	0.28296	N	0.015864	T	0.41373	0.1156	M	0.78456	2.415	0.21355	N	0.999712	B;P;B;B	0.34412	0.016;0.453;0.085;0.008	B;B;B;B	0.27608	0.032;0.081;0.018;0.008	T	0.42616	-0.9441	10	0.72032	D	0.01	-0.7921	5.1721	0.15116	0.079:0.1433:0.6292:0.1485	.	237;534;24;24	B4DIS5;B1N949;O75335-2;O75335	.;.;.;LIPA4_HUMAN	H	509;534;24;237;24	ENSP00000356209:R509H;ENSP00000402576:R534H;ENSP00000295706:R24H;ENSP00000400379:R237H;ENSP00000272198:R24H	ENSP00000272198:R24H	R	+	2	0	PPFIA4	201287597	0.199000	0.23386	0.320000	0.25306	0.982000	0.71751	2.073000	0.41519	0.155000	0.19261	0.561000	0.74099	CGC		0.637	PPFIA4-005	NOVEL	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000462949.1	NM_015053		7	14	0	0	0	1	0	7	14					A	203020974	G	A	203020974	3	1	435	1	0	0	0	0	1	0	0	0	12312	1087	38	1	73	1	PPFIA4	1	203020974	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	36947	203020974	46229647	802	21727											
PPFIA4	8497	broad.mit.edu	37	chr1	203025990	203025990	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cacaagggcgccaagcgcaaGggcatcaagtcgtccattgg	11	5	13	12	3	1	0	1	0	0	0	3	0	2	0	2	3	1	2	2	3	4	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:203025990G>T	ENST00000447715.2	+	24	2694	c.2253G>T	c.(2251-2253)aaG>aaT	p.K751N	PPFIA4_ENST00000295706.4_Missense_Mutation_p.K267N|PPFIA4_ENST00000599966.1_Missense_Mutation_p.K267N|PPFIA4_ENST00000414050.2_Missense_Mutation_p.K480N|PPFIA4_ENST00000272198.6_Missense_Mutation_p.K267N|PPFIA4_ENST00000367240.2_Missense_Mutation_p.K752N			O75335	LIPA4_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 4	751					cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|presynaptic active zone (GO:0048786)				NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(8)|lung(20)|ovary(4)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	50						CCAAGCGCAAGGGCATCAAGT	0.622																																						ENST00000367240.2																			0				NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(8)|lung(20)|ovary(4)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	50						c.(2254-2256)aaG>aaT		protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 4							44	49	48					1																	203025990		2171	4284	6455	SO:0001583	missense	8497				cell communication	cell surface|cytoplasm	protein binding	g.chr1:203025990G>T	AF034801	CCDS44296.1	1q32.1	2013-01-10			ENSG00000143847	ENSG00000143847		"Sterile alpha motif (SAM) domain containing"	9248	protein-coding gene	gene with protein product	"Liprin-alpha4"	603145				9624153	Standard	XM_005245553		Approved		uc009xaj.3	O75335	OTTHUMG00000042123	ENST00000447715.2:c.2253G>T	1.37:g.203025990G>T	ENSP00000402576:p.Lys751Asn					PPFIA4_ENST00000272198.6_Missense_Mutation_p.K267N|PPFIA4_ENST00000414050.2_Missense_Mutation_p.K480N|PPFIA4_ENST00000599966.1_Missense_Mutation_p.K267N|PPFIA4_ENST00000447715.2_Missense_Mutation_p.K751N|PPFIA4_ENST00000295706.4_Missense_Mutation_p.K267N	p.K752N			O75335	LIPA4_HUMAN			18	2783	+			267					A2RUJ5|B1APN8|B1N949|B7ZM43|O94971	Missense_Mutation	SNP	ENST00000447715.2	37	c.2256G>T		.	.	.	.	.	.	.	.	.	.	g	20.2	3.944682	0.73672	.	.	ENSG00000143847	ENST00000367240;ENST00000447715;ENST00000295706;ENST00000414050;ENST00000272198	T;T;T;T;T	0.55760	0.5;0.5;0.5;0.5;0.5	5.19	4.22	0.49857	.	0.000000	0.47455	D	0.000228	T	0.70491	0.3230	M	0.84683	2.71	0.58432	D	0.999993	D;D;D;D	0.62365	0.975;0.991;0.987;0.978	P;P;P;P	0.62813	0.866;0.873;0.907;0.696	T	0.74512	-0.3641	10	0.72032	D	0.01	-36.1531	10.1389	0.42723	0.1712:0.0:0.8288:0.0	.	480;751;267;267	B4DIS5;B1N949;O75335-2;O75335	.;.;.;LIPA4_HUMAN	N	752;751;267;480;267	ENSP00000356209:K752N;ENSP00000402576:K751N;ENSP00000295706:K267N;ENSP00000400379:K480N;ENSP00000272198:K267N	ENSP00000272198:K267N	K	+	3	2	PPFIA4	201292613	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.231000	0.32624	1.283000	0.44513	0.651000	0.88453	AAG		0.622	PPFIA4-005	NOVEL	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000462949.1	NM_015053		16	19	1	0	2.31682e-05	1	2.39009e-05	16	19					T	203025990	G	T	203025990	3	4	435	1	0	0	0	0	1	0	0	0	12312	991	35	5	823	5	PPFIA4	1	203025990	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	5016	203025990	46224631	803	21728											
ADORA1	134	broad.mit.edu	37	chr1	203098231	203098231	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcatggttgcctgtccggtcCtcatcctcacccagagctcc	5	11	8	17	1	3	1	3	0	0	1	7	1	7	1	6	2	2	2	6	2	0	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:203098231C>A	ENST00000367236.4	+	2	1183	c.262C>A	c.(262-264)Ctc>Atc	p.L88I	RP11-335O13.7_ENST00000421055.1_RNA|ADORA1_ENST00000337894.4_Missense_Mutation_p.L88I|ADORA1_ENST00000309502.3_Missense_Mutation_p.L88I|ADORA1_ENST00000367235.1_Missense_Mutation_p.L88I	NM_001048230.1	NP_001041695.1	P30542	AA1R_HUMAN	adenosine A1 receptor	88					activation of MAPKK activity (GO:0000186)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|apoptotic signaling pathway (GO:0097190)|cell-cell signaling (GO:0007267)|cognition (GO:0050890)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|inflammatory response (GO:0006954)|lipid catabolic process (GO:0016042)|negative regulation of acute inflammatory response (GO:0002674)|negative regulation of apoptotic process (GO:0043066)|negative regulation of blood pressure (GO:0045776)|negative regulation of cardiac muscle contraction (GO:0055118)|negative regulation of cell proliferation (GO:0008285)|negative regulation of circadian sleep/wake cycle, non-REM sleep (GO:0042323)|negative regulation of glutamate secretion (GO:0014050)|negative regulation of heart contraction (GO:0045822)|negative regulation of hormone secretion (GO:0046888)|negative regulation of leukocyte migration (GO:0002686)|negative regulation of lipid catabolic process (GO:0050995)|negative regulation of mucus secretion (GO:0070256)|negative regulation of neurotrophin production (GO:0032900)|negative regulation of renal sodium excretion (GO:0035814)|negative regulation of synaptic transmission, GABAergic (GO:0032229)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|negative regulation of vasodilation (GO:0045908)|nervous system development (GO:0007399)|phagocytosis (GO:0006909)|positive regulation of blood pressure (GO:0045777)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of nucleoside transport (GO:0032244)|positive regulation of peptide secretion (GO:0002793)|positive regulation of potassium ion transport (GO:0043268)|positive regulation of protein dephosphorylation (GO:0035307)|protein targeting to membrane (GO:0006612)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of glomerular filtration (GO:0003093)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic plasticity (GO:0048167)|relaxation of vascular smooth muscle (GO:0060087)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|temperature homeostasis (GO:0001659)	asymmetric synapse (GO:0032279)|axolemma (GO:0030673)|basolateral plasma membrane (GO:0016323)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	G-protein coupled adenosine receptor activity (GO:0001609)|phospholipase C activity (GO:0004629)|purine nucleoside binding (GO:0001883)			central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(9)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	25					Adenosine(DB00640)|Aminophylline(DB01223)|Caffeine(DB00201)|Defibrotide(DB04932)|Dyphylline(DB00651)|Enprofylline(DB00824)|Gabapentin(DB00996)|Oxtriphylline(DB01303)|Pentoxifylline(DB00806)|Theobromine(DB01412)|Theophylline(DB00277)	CTGTCCGGTCCTCATCCTCAC	0.622																																						ENST00000367236.4																			0				central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(9)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	25						c.(262-264)Ctc>Atc		adenosine A1 receptor	Aminophylline(DB01223)|Caffeine(DB00201)|Defibrotide(DB04932)|Gabapentin(DB00996)|Imipramine(DB00458)|Pegademase bovine(DB00061)|Theophylline(DB00277)						184	170	175					1																	203098231		2203	4300	6503	SO:0001583	missense	134				induction of apoptosis by extracellular signals|inflammatory response|nervous system development|phagocytosis	integral to plasma membrane		g.chr1:203098231C>A	BC026340	CCDS1434.1	1q32.1	2012-08-08			ENSG00000163485	ENSG00000163485		"GPCR / Class A : Adenosine receptors"	262	protein-coding gene	gene with protein product		102775				1662665, 2541503	Standard	NM_001048230		Approved	RDC7	uc001gzf.1	P30542	OTTHUMG00000042125	ENST00000367236.4:c.262C>A	1.37:g.203098231C>A	ENSP00000356205:p.Leu88Ile					ADORA1_ENST00000367235.1_Missense_Mutation_p.L88I|ADORA1_ENST00000309502.3_Missense_Mutation_p.L88I|ADORA1_ENST00000337894.4_Missense_Mutation_p.L88I	p.L88I	NM_001048230.1	NP_001041695.1	P30542	AA1R_HUMAN			2	1183	+			88					A6NFY5|A6NGP4|A8K1L3|B3KXQ4|D2CGD0|Q6FHK3|Q8TAM8	Missense_Mutation	SNP	ENST00000367236.4	37	c.262C>A	CCDS1434.1	.	.	.	.	.	.	.	.	.	.	C	19.18	3.777809	0.70107	.	.	ENSG00000163485	ENST00000309502;ENST00000367236;ENST00000337894;ENST00000367235	T;T;T;T	0.72394	-0.65;-0.65;-0.65;-0.65	5.17	4.26	0.50523	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.75982	0.3924	L	0.42245	1.32	0.54753	D	0.999985	D;P	0.76494	0.999;0.861	D;P	0.76071	0.987;0.874	T	0.70956	-0.4731	10	0.15952	T	0.53	-34.2867	13.4465	0.61144	0.0:0.9241:0.0:0.0759	.	121;88	B7Z379;P30542	.;AA1R_HUMAN	I	88	ENSP00000308549:L88I;ENSP00000356205:L88I;ENSP00000338435:L88I;ENSP00000356204:L88I	ENSP00000308549:L88I	L	+	1	0	ADORA1	201364854	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.889000	0.56212	1.163000	0.42636	0.655000	0.94253	CTC		0.622	ADORA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000100273.1	NM_000674		54	76	1	0	1.72039e-30	1	1.92864e-30	54	76					A	203098231	C	A	203098231	3	1	435	1	0	0	0	0	1	0	0	0	326	681	24	5	264	5	ADORA1	1	203098231	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	72241	203098231	46152390	804	21729											
CHIT1	1118	broad.mit.edu	37	chr1	203186921	203186921	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcggccctggttgcaggagaAgccggcaaagtcatctaagt	10	8	13	10	2	2	1	1	0	1	1	3	2	2	1	2	4	2	3	2	4	3	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:203186921A>T	ENST00000367229.1	-	10	1136	c.1102T>A	c.(1102-1104)Ttc>Atc	p.F368I	CHIT1_ENST00000255427.3_Missense_Mutation_p.F349I|CHIT1_ENST00000535569.1_Missense_Mutation_p.F359I|CHIT1_ENST00000484834.1_5'UTR	NM_001270509.1|NM_003465.2	NP_001257438.1|NP_003456.1	Q13231	CHIT1_HUMAN	chitinase 1 (chitotriosidase)	368					chitin catabolic process (GO:0006032)|immune response (GO:0006955)|polysaccharide catabolic process (GO:0000272)|response to bacterium (GO:0009617)	extracellular space (GO:0005615)|lysosome (GO:0005764)	chitin binding (GO:0008061)|chitinase activity (GO:0004568)|endochitinase activity (GO:0008843)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|stomach(2)	27						TTGCAGGAGAAGCCGGCAAAG	0.602																																						ENST00000367229.1																			0				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|stomach(2)	27						c.(1102-1104)Ttc>Atc		chitinase 1 (chitotriosidase)							69	60	63					1																	203186921		2203	4300	6503	SO:0001583	missense	1118				chitin catabolic process|immune response|response to bacterium	extracellular space|lysosome	cation binding|chitin binding|endochitinase activity	g.chr1:203186921A>T	U29615	CCDS1436.1, CCDS58057.1	1q32.1	2013-06-06			ENSG00000133063	ENSG00000133063			1936	protein-coding gene	gene with protein product		600031				9748235, 9492324	Standard	NM_003465		Approved	CHIT, CHI3	uc001gzn.2	Q13231	OTTHUMG00000042126	ENST00000367229.1:c.1102T>A	1.37:g.203186921A>T	ENSP00000356198:p.Phe368Ile					CHIT1_ENST00000255427.3_Missense_Mutation_p.F349I|CHIT1_ENST00000484834.1_5'UTR|CHIT1_ENST00000535569.1_Missense_Mutation_p.F359I	p.F368I	NM_001270509.1|NM_003465.2	NP_001257438.1|NP_003456.1	Q13231	CHIT1_HUMAN			10	1136	-			368					B3KNW6|J3KN09|Q0VGG5|Q0VGG6|Q3ZAR1|Q6ISC2|Q9H3V8|Q9UDJ8	Missense_Mutation	SNP	ENST00000367229.1	37	c.1102T>A	CCDS1436.1	.	.	.	.	.	.	.	.	.	.	A	6.745	0.506186	0.12883	.	.	ENSG00000133063	ENST00000367229;ENST00000255427;ENST00000535569	T;T;T	0.34859	1.34;1.34;1.34	4.84	0.883	0.19177	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.675180	0.12867	N	0.432656	T	0.19005	0.0456	N	0.22421	0.69	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.04013	0.0;0.001	T	0.17561	-1.0365	10	0.36615	T	0.2	-8.5191	1.6451	0.02760	0.5201:0.1405:0.0892:0.2502	.	359;368	G5EA51;Q13231	.;CHIT1_HUMAN	I	368;349;359	ENSP00000356198:F368I;ENSP00000255427:F349I;ENSP00000438078:F359I	ENSP00000255427:F349I	F	-	1	0	CHIT1	201453544	0.000000	0.05858	0.259000	0.24435	0.003000	0.03518	-0.209000	0.09358	0.288000	0.22398	-0.313000	0.08912	TTC		0.602	CHIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000100275.2	NM_003465		9	12	0	0	0	1	0	9	12					T	203186921	A	T	203186921	3	4	435	1	0	0	0	0	1	0	0	0	3346	72	3	5	306	5	CHIT1	1	203186921	Missense_Mutation	SNP	A	TCGA-XK-AAIW-01A-11D-A41K-08	88690	203186921	46063700	805	21730											
FMOD	2331	broad.mit.edu	37	chr1	203311497	203311497	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctcgatgaggctggcaaggcGcaggcagaggggcgcgtcgg	7	4	20	10	5	0	2	0	1	0	1	2	3	0	2	0	7	0	4	0	7	1	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:203311497G>A	ENST00000354955.4	-	3	1568	c.1105C>T	c.(1105-1107)Cgc>Tgc	p.R369C	FMOD_ENST00000493296.1_5'UTR	NM_002023.4	NP_002014.2	Q06828	FMOD_HUMAN	fibromodulin	369					carbohydrate metabolic process (GO:0005975)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|small molecule metabolic process (GO:0044281)|transforming growth factor beta receptor complex assembly (GO:0007181)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)				breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	17			BRCA - Breast invasive adenocarcinoma(75;0.171)			CTGGCAAGGCGCAGGCAGAGG	0.642											OREG0014119	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000354955.4																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	17						c.(1105-1107)Cgc>Tgc		fibromodulin							33	35	34					1																	203311497		2203	4297	6500	SO:0001583	missense	2331				transforming growth factor beta receptor complex assembly	extracellular space|proteinaceous extracellular matrix		g.chr1:203311497G>A	U05291	CCDS30976.1	1q32	2008-02-05			ENSG00000122176	ENSG00000122176		"Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"	3774	protein-coding gene	gene with protein product	"fibromodulin proteoglycan"	600245				7851907	Standard	NM_002023		Approved	SLRR2E	uc001gzr.3	Q06828	OTTHUMG00000035910	ENST00000354955.4:c.1105C>T	1.37:g.203311497G>A	ENSP00000347041:p.Arg369Cys		OREG0014119	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	2136	FMOD_ENST00000464898.1_5'UTR	p.R369C	NM_002023.4	NP_002014.2	Q06828	FMOD_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.171)		3	1568	-			369					Q15331|Q8IV47	Missense_Mutation	SNP	ENST00000354955.4	37	c.1105C>T	CCDS30976.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.210027	0.79240	.	.	ENSG00000122176	ENST00000435105;ENST00000354955	T	0.60171	0.21	5.4	5.4	0.78164	.	0.000000	0.85682	D	0.000000	T	0.63721	0.2535	M	0.83774	2.66	0.80722	D	1	B	0.22683	0.073	B	0.14578	0.011	T	0.65442	-0.6167	10	0.72032	D	0.01	-16.0117	17.7395	0.88404	0.0:0.0:1.0:0.0	.	369	Q06828	FMOD_HUMAN	C	356;369	ENSP00000347041:R369C	ENSP00000347041:R369C	R	-	1	0	FMOD	201578120	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.437000	0.80417	2.521000	0.84997	0.563000	0.77884	CGC		0.642	FMOD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087472.1	NM_002023		6	16	0	0	0	1	0	6	16					A	203311497	G	A	203311497	3	1	435	1	0	0	0	0	1	0	0	0	5959	1087	38	1	29	1	FMOD	1	203311497	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	124576	203311497	45939124	806	21731											
ATP2B4	493	broad.mit.edu	37	chr1	203680202	203680202	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caccgaactgacctgtatcgCggtggtgggcattgaggacc	8	8	14	11	3	0	2	0	2	0	0	1	4	0	3	3	4	1	2	3	4	2	2	rs556425707		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:203680202C>T	ENST00000357681.5	+	12	3120	c.1997C>T	c.(1996-1998)gCg>gTg	p.A666V	ATP2B4_ENST00000341360.2_Missense_Mutation_p.A666V|ATP2B4_ENST00000367218.3_Missense_Mutation_p.A666V|ATP2B4_ENST00000367219.3_Missense_Mutation_p.A654V|ATP2B4_ENST00000391954.2_Missense_Mutation_p.A666V	NM_001684.4	NP_001675.3	P23634	AT2B4_HUMAN	ATPase, Ca++ transporting, plasma membrane 4	666					blood coagulation (GO:0007596)|calcium ion homeostasis (GO:0055074)|calcium ion import across plasma membrane (GO:0098703)|calcium ion transmembrane transport (GO:0070588)|cellular calcium ion homeostasis (GO:0006874)|cellular response to epinephrine stimulus (GO:0071872)|ion transmembrane transport (GO:0034220)|negative regulation of adrenergic receptor signaling pathway involved in heart process (GO:1901205)|negative regulation of arginine catabolic process (GO:1900082)|negative regulation of calcineurin-NFAT signaling cascade (GO:0070885)|negative regulation of cardiac muscle hypertrophy in response to stress (GO:1903243)|negative regulation of citrulline biosynthetic process (GO:1903249)|negative regulation of nitric oxide biosynthetic process (GO:0045019)|negative regulation of nitric oxide mediated signal transduction (GO:0010751)|negative regulation of nitric-oxide synthase activity (GO:0051001)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of the force of heart contraction (GO:0098736)|positive regulation of cAMP-dependent protein kinase activity (GO:2000481)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of sodium ion transmembrane transport (GO:1902305)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to hydrostatic pressure (GO:0051599)|transmembrane transport (GO:0055085)	caveola (GO:0005901)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|calmodulin binding (GO:0005516)|metal ion binding (GO:0046872)|nitric-oxide synthase binding (GO:0050998)|protein phosphatase 2B binding (GO:0030346)|scaffold protein binding (GO:0097110)			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(20)|ovary(2)|prostate(6)|skin(1)|stomach(1)|urinary_tract(3)	56	all_cancers(21;0.071)|all_epithelial(62;0.228)		BRCA - Breast invasive adenocarcinoma(75;0.109)			ACCTGTATCGCGGTGGTGGGC	0.557													C|||	1	0.000199681	0	0	5008	,	,		21282	0		0	False		,,,				2504	0.001					ENST00000357681.5																			0				NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(20)|ovary(2)|prostate(6)|skin(1)|stomach(1)|urinary_tract(3)	56						c.(1996-1998)gCg>gTg		ATPase, Ca++ transporting, plasma membrane 4							97	85	89					1																	203680202		2203	4300	6503	SO:0001583	missense	493				ATP biosynthetic process|platelet activation	integral to plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding	g.chr1:203680202C>T	M25874	CCDS1440.1, CCDS30977.1	1q32.1	2010-04-20	2005-05-26		ENSG00000058668	ENSG00000058668	3.6.3.8	"ATPases / P-type"	817	protein-coding gene	gene with protein product	"plasma membrane calcium-transporting ATPase 4"	108732	"matrix-remodelling associated 1"	ATP2B2, MXRA1		1674727	Standard	NM_001001396		Approved	PMCA4	uc001gzw.3	P23634	OTTHUMG00000035906	ENST00000357681.5:c.1997C>T	1.37:g.203680202C>T	ENSP00000350310:p.Ala666Val					ATP2B4_ENST00000341360.2_Missense_Mutation_p.A666V|ATP2B4_ENST00000391954.2_Missense_Mutation_p.A666V|ATP2B4_ENST00000367219.3_Missense_Mutation_p.A654V|ATP2B4_ENST00000367218.3_Missense_Mutation_p.A666V	p.A666V	NM_001684.4	NP_001675.3	P23634	AT2B4_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.109)		12	3120	+	all_cancers(21;0.071)|all_epithelial(62;0.228)		666					B1APW5|B1APW6|Q13450|Q13452|Q13455|Q16817|Q7Z3S1	Missense_Mutation	SNP	ENST00000357681.5	37	c.1997C>T	CCDS1440.1	.	.	.	.	.	.	.	.	.	.	C	18.34	3.602215	0.66445	.	.	ENSG00000058668	ENST00000357681;ENST00000367218;ENST00000367219;ENST00000391954;ENST00000341360	T;T;T;T;T	0.72505	-0.66;-0.66;-0.66;-0.66;-0.66	5.35	3.38	0.38709	ATPase, cation-transporting, domain N (1);Haloacid dehalogenase-like hydrolase (1);HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	0.603831	0.14938	N	0.289674	D	0.83440	0.5255	M	0.85859	2.78	0.09310	N	0.999991	D;P;D	0.89917	0.998;0.867;1.0	D;B;D	0.69479	0.93;0.384;0.964	T	0.73202	-0.4057	10	0.87932	D	0	-5.8825	10.7214	0.46042	0.0:0.7095:0.2168:0.0737	.	666;666;666	P23634;P23634-6;B1APW5	AT2B4_HUMAN;.;.	V	666;666;654;666;666	ENSP00000350310:A666V;ENSP00000356187:A666V;ENSP00000356188:A654V;ENSP00000375816:A666V;ENSP00000340930:A666V	ENSP00000340930:A666V	A	+	2	0	ATP2B4	201946825	0.000000	0.05858	0.262000	0.24481	0.880000	0.50808	1.006000	0.29847	1.386000	0.46466	0.655000	0.94253	GCG		0.557	ATP2B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087462.1	NM_001001396		25	31	0	0	0	1	0	25	31					T	203680202	C	T	203680202	3	4	435	1	0	0	0	0	1	0	0	0	1142	768	27	1	2039	1	ATP2B4	1	203680202	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	368705	203680202	45570419	807	21732											
LAX1	54900	broad.mit.edu	37	chr1	203743159	203743159	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcagagcttccagagactgcGcaagcatttcttcagaggat	11	10	10	10	1	3	3	2	0	1	3	4	5	4	4	1	1	3	3	1	1	1	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:203743159G>A	ENST00000442561.2	+	5	937	c.547G>A	c.(547-549)Gca>Aca	p.A183T	LAX1_ENST00000367217.5_Missense_Mutation_p.A167T|LAX1_ENST00000367215.1_3'UTR	NM_017773.3	NP_060243.2	Q8IWV1	LAX1_HUMAN	lymphocyte transmembrane adaptor 1	183					antigen receptor-mediated signaling pathway (GO:0050851)|B cell activation (GO:0042113)|immune response (GO:0006955)|immunoglobulin secretion (GO:0048305)|inactivation of MAPK activity (GO:0000188)|intracellular signal transduction (GO:0035556)|negative regulation of T cell activation (GO:0050868)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|SH2 domain binding (GO:0042169)			central_nervous_system(2)|endometrium(3)|large_intestine(2)|lung(13)|prostate(1)|stomach(1)|urinary_tract(2)	24	all_cancers(21;0.0915)		BRCA - Breast invasive adenocarcinoma(75;0.109)			CAGAGACTGCGCAAGCATTTC	0.507																																						ENST00000442561.2																			0				central_nervous_system(2)|endometrium(3)|large_intestine(2)|lung(13)|prostate(1)|stomach(1)|urinary_tract(2)	24						c.(547-549)Gca>Aca		lymphocyte transmembrane adaptor 1							101	92	95					1																	203743159		2203	4300	6503	SO:0001583	missense	54900				B cell activation|immune response|inactivation of MAPK activity|intracellular signal transduction|negative regulation of T cell activation	Golgi apparatus|integral to membrane|plasma membrane	protein kinase binding|SH2 domain binding	g.chr1:203743159G>A	AK000347	CCDS1441.2, CCDS44297.1	1q32.1	2008-02-05			ENSG00000122188	ENSG00000122188			26005	protein-coding gene	gene with protein product	"LAT-like membrane associated protein", "linker for activation of x cells"					12359715	Standard	NM_017773		Approved	LAX, FLJ20340	uc001haa.3	Q8IWV1	OTTHUMG00000035908	ENST00000442561.2:c.547G>A	1.37:g.203743159G>A	ENSP00000406970:p.Ala183Thr					LAX1_ENST00000367215.1_3'UTR|LAX1_ENST00000367217.5_Missense_Mutation_p.A167T	p.A183T	NM_017773.3	NP_060243.2	Q8IWV1	LAX1_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.109)		5	937	+	all_cancers(21;0.0915)		183					B7Z744|J3KP69|Q6NSZ6|Q9NXB4	Missense_Mutation	SNP	ENST00000442561.2	37	c.547G>A	CCDS1441.2	.	.	.	.	.	.	.	.	.	.	G	4.732	0.136069	0.09032	.	.	ENSG00000122188	ENST00000442561;ENST00000367217	.	.	.	5.21	-9.57	0.00562	.	1.864850	0.02796	N	0.122601	T	0.05960	0.0155	N	0.01048	-1.04	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.23762	-1.0179	9	0.06757	T	0.87	6.2849	0.1359	0.00078	0.3037:0.1827:0.244:0.2696	.	167;183	B7Z744;Q8IWV1	.;LAX1_HUMAN	T	183;167	.	ENSP00000356186:A167T	A	+	1	0	LAX1	202009782	0.000000	0.05858	0.000000	0.03702	0.249000	0.25844	-1.815000	0.01722	-1.400000	0.02061	-0.294000	0.09567	GCA		0.507	LAX1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000087468.3	NM_017773		33	39	0	0	0	1	0	33	39					A	203743159	G	A	203743159	3	1	435	1	0	0	0	0	1	0	0	0	8648	1087	38	1	610	1	LAX1	1	203743159	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	62957	203743159	45507462	808	21733											
KISS1	3814	broad.mit.edu	37	chr1	204161932	204161932	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	agaattccccacagaggccaCcttttctaatggctccccaa	11	9	6	15	0	1	2	0	0	1	2	3	2	3	2	6	2	0	1	6	2	3	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:204161932C>T	ENST00000367194.4	-	2	221	c.73G>A	c.(73-75)Gtg>Atg	p.V25M		NM_002256.3	NP_002247.3	Q15726	KISS1_HUMAN	KiSS-1 metastasis-suppressor	25					cytoskeleton organization (GO:0007010)|generation of ovulation cycle rhythm (GO:0060112)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of growth hormone secretion (GO:0060124)|positive regulation of luteinizing hormone secretion (GO:0033686)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of synaptic transmission (GO:0050806)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)				large_intestine(1)|lung(1)|ovary(1)	3	all_cancers(21;0.0165)|Breast(84;0.179)|all_epithelial(62;0.242)	Breast(1374;9.42e-05)	KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.069)|Kidney(21;0.0934)|Epithelial(59;0.239)	Colorectal(1306;0.0129)		ACAGAGGCCACCTTTTCTAAT	0.507																																						ENST00000367194.4																			0				large_intestine(1)|lung(1)|ovary(1)	3						c.(73-75)Gtg>Atg		KiSS-1 metastasis-suppressor							33	34	34					1																	204161932		1847	4100	5947	SO:0001583	missense	3814				cytoskeleton organization	extracellular region	protein binding	g.chr1:204161932C>T	U43527	CCDS41454.1	1q32	2014-01-30			ENSG00000170498	ENSG00000170498		"Endogenous ligands"	6341	protein-coding gene	gene with protein product	"prepro-kisspeptin", "kisspeptin"	603286				9192814, 9806840	Standard	NM_002256		Approved		uc001har.3	Q15726	OTTHUMG00000036060	ENST00000367194.4:c.73G>A	1.37:g.204161932C>T	ENSP00000356162:p.Val25Met						p.V25M	NM_002256.3	NP_002247.3	Q15726	KISS1_HUMAN	KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.069)|Kidney(21;0.0934)|Epithelial(59;0.239)	Colorectal(1306;0.0129)	2	221	-	all_cancers(21;0.0165)|Breast(84;0.179)|all_epithelial(62;0.242)	Breast(1374;9.42e-05)	25					A8K6N0|Q9HBP1	Missense_Mutation	SNP	ENST00000367194.4	37	c.73G>A	CCDS41454.1	.	.	.	.	.	.	.	.	.	.	C	9.285	1.049235	0.19827	.	.	ENSG00000170498	ENST00000367194	T	0.72615	-0.67	5.67	1.34	0.21922	.	0.545454	0.15138	N	0.278448	T	0.49184	0.1542	L	0.28115	0.83	0.09310	N	1	B	0.33807	0.426	B	0.31101	0.124	T	0.35649	-0.9780	10	0.40728	T	0.16	-17.1795	3.3254	0.07064	0.1965:0.5087:0.0:0.2947	.	25	Q15726	KISS1_HUMAN	M	25	ENSP00000356162:V25M	ENSP00000356162:V25M	V	-	1	0	KISS1	202428555	0.000000	0.05858	0.012000	0.15200	0.131000	0.20780	-0.430000	0.06973	0.737000	0.32582	0.603000	0.83216	GTG		0.507	KISS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087892.1	NM_002256		6	7	0	0	0	1	0	6	7					T	204161932	C	T	204161932	3	4	435	1	0	0	0	0	1	0	0	0	8327	507	18	3	351	3	KISS1	1	204161932	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	418773	204161932	45088689	809	21734											
PIK3C2B	5287	broad.mit.edu	37	chr1	204397287	204397287	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgaggacttaggagctgggCtggtgcccatagccttctca	7	10	13	11	0	1	1	1	1	1	0	2	3	1	3	2	4	3	2	2	4	2	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:204397287C>T	ENST00000367187.3	-	31	5016	c.4460G>A	c.(4459-4461)aGc>aAc	p.S1487N	RP11-739N20.2_ENST00000443515.1_RNA|PIK3C2B_ENST00000424712.2_Missense_Mutation_p.S1459N	NM_002646.3	NP_002637.3	O00750	P3C2B_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta	1487					phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|protein kinase B signaling (GO:0043491)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|lipid kinase activity (GO:0001727)|phosphatidylinositol binding (GO:0035091)			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(4)|large_intestine(11)|lung(24)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	52	all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227)		GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193)			AGGAGCTGGGCTGGTGCCCAT	0.512																																						ENST00000367187.3																			0				breast(3)|central_nervous_system(1)|cervix(2)|endometrium(4)|large_intestine(11)|lung(24)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	52						c.(4459-4461)aGc>aAc		phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta							78	69	72					1																	204397287		2203	4300	6503	SO:0001583	missense	5287				cell communication|phosphatidylinositol-mediated signaling	endoplasmic reticulum|microsome|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity|protein binding	g.chr1:204397287C>T	Y11312	CCDS1446.1	1q32	2012-07-13	2012-07-13		ENSG00000133056	ENSG00000133056	2.7.1.154		8972	protein-coding gene	gene with protein product		602838	"phosphoinositide-3-kinase, class 2, beta polypeptide"			9144573, 9830063	Standard	NM_002646		Approved	C2-PI3K, PI3K-C2beta	uc001haw.3	O00750	OTTHUMG00000036101	ENST00000367187.3:c.4460G>A	1.37:g.204397287C>T	ENSP00000356155:p.Ser1487Asn					RP11-739N20.2_ENST00000443515.1_RNA|PIK3C2B_ENST00000424712.2_Missense_Mutation_p.S1459N	p.S1487N	NM_002646.3	NP_002637.3	O00750	P3C2B_HUMAN	GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193)		31	5016	-	all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227)		1487					O95666|Q5SW99	Missense_Mutation	SNP	ENST00000367187.3	37	c.4460G>A	CCDS1446.1	.	.	.	.	.	.	.	.	.	.	C	10.14	1.267323	0.23136	.	.	ENSG00000133056	ENST00000367187;ENST00000424712	T;T	0.67698	-0.28;-0.28	5.24	4.32	0.51571	Phox homologous domain (2);	0.156068	0.56097	D	0.000029	T	0.40909	0.1136	N	0.12182	0.205	0.25513	N	0.987441	B;B	0.10296	0.001;0.003	B;B	0.10450	0.005;0.002	T	0.19451	-1.0305	10	0.11794	T	0.64	.	5.4415	0.16511	0.1886:0.6842:0.0:0.1272	.	1459;1487	F5GWN5;O00750	.;P3C2B_HUMAN	N	1487;1459	ENSP00000356155:S1487N;ENSP00000400561:S1459N	ENSP00000356155:S1487N	S	-	2	0	PIK3C2B	202663910	0.958000	0.32768	0.998000	0.56505	0.909000	0.53808	0.538000	0.23160	1.182000	0.42928	0.591000	0.81541	AGC		0.512	PIK3C2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087965.1	NM_002646		8	7	0	0	0	1	0	8	7					T	204397287	C	T	204397287	3	4	435	1	0	0	0	0	1	0	0	0	11910	797	28	3	460	3	PIK3C2B	1	204397287	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	235355	204397287	44853334	810	21735											
PIK3C2B	5287	broad.mit.edu	37	chr1	204403686	204403686	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cggtcacagatgcccaagacGtacgtggccacgcagcagcc	10	4	12	15	4	1	2	1	0	0	2	1	2	1	2	3	2	4	3	3	2	2	1	rs150291272		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:204403686G>A	ENST00000367187.3	-	25	4123	c.3567C>T	c.(3565-3567)taC>taT	p.Y1189Y	RP11-739N20.2_ENST00000443515.1_RNA|PIK3C2B_ENST00000424712.2_Silent_p.Y1161Y	NM_002646.3	NP_002637.3	O00750	P3C2B_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta	1189	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.				phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|protein kinase B signaling (GO:0043491)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|lipid kinase activity (GO:0001727)|phosphatidylinositol binding (GO:0035091)			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(4)|large_intestine(11)|lung(24)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	52	all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227)		GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193)			TGCCCAAGACGTACGTGGCCA	0.547																																						ENST00000367187.3																			0				breast(3)|central_nervous_system(1)|cervix(2)|endometrium(4)|large_intestine(11)|lung(24)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	52						c.(3565-3567)taC>taT		phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta		G		1,4405	2.1+/-5.4	0,1,2202	77	59	65		3567	-3.9	0	1	dbSNP_134	65	2,8598	3.7+/-12.6	0,2,4298	no	coding-synonymous	PIK3C2B	NM_002646.3		0,3,6500	AA,AG,GG		0.0233,0.0227,0.0231		1189/1635	204403686	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	5287				cell communication|phosphatidylinositol-mediated signaling	endoplasmic reticulum|microsome|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity|protein binding	g.chr1:204403686G>A	Y11312	CCDS1446.1	1q32	2012-07-13	2012-07-13		ENSG00000133056	ENSG00000133056	2.7.1.154		8972	protein-coding gene	gene with protein product		602838	"phosphoinositide-3-kinase, class 2, beta polypeptide"			9144573, 9830063	Standard	NM_002646		Approved	C2-PI3K, PI3K-C2beta	uc001haw.3	O00750	OTTHUMG00000036101	ENST00000367187.3:c.3567C>T	1.37:g.204403686G>A						RP11-739N20.2_ENST00000443515.1_RNA|PIK3C2B_ENST00000424712.2_Silent_p.Y1161Y	p.Y1189Y	NM_002646.3	NP_002637.3	O00750	P3C2B_HUMAN	GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193)		25	4123	-	all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227)		1189			PI3K/PI4K.		O95666|Q5SW99	Silent	SNP	ENST00000367187.3	37	c.3567C>T	CCDS1446.1																																																																																				0.547	PIK3C2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087965.1	NM_002646		4	22	0	0	0	1	0	4	22					A	204403686	G	A	204403686	2	1	435	1	0	0	0	0	0	0	0	1	11910	1140	40	1		1	PIK3C2B	1	204403686	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	6399	204403686	44846935	811	21736											
PIK3C2B	5287	broad.mit.edu	37	chr1	204434354	204434354	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctttaactcttacatatccaGcatgtggcaaaatgcagcaa	14	11	6	10	0	1	0	0	0	1	0	2	0	2	0	1	1	5	4	1	1	6	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:204434354G>C	ENST00000367187.3	-	4	1583	c.1027C>G	c.(1027-1029)Ctg>Gtg	p.L343V	PIK3C2B_ENST00000424712.2_Missense_Mutation_p.L343V	NM_002646.3	NP_002637.3	O00750	P3C2B_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta	343					phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|protein kinase B signaling (GO:0043491)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|lipid kinase activity (GO:0001727)|phosphatidylinositol binding (GO:0035091)			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(4)|large_intestine(11)|lung(24)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	52	all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227)		GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193)			TACATATCCAGCATGTGGCAA	0.517																																						ENST00000367187.3																			0				breast(3)|central_nervous_system(1)|cervix(2)|endometrium(4)|large_intestine(11)|lung(24)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	52						c.(1027-1029)Ctg>Gtg		phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta							119	126	123					1																	204434354		2203	4300	6503	SO:0001583	missense	5287				cell communication|phosphatidylinositol-mediated signaling	endoplasmic reticulum|microsome|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity|protein binding	g.chr1:204434354G>C	Y11312	CCDS1446.1	1q32	2012-07-13	2012-07-13		ENSG00000133056	ENSG00000133056	2.7.1.154		8972	protein-coding gene	gene with protein product		602838	"phosphoinositide-3-kinase, class 2, beta polypeptide"			9144573, 9830063	Standard	NM_002646		Approved	C2-PI3K, PI3K-C2beta	uc001haw.3	O00750	OTTHUMG00000036101	ENST00000367187.3:c.1027C>G	1.37:g.204434354G>C	ENSP00000356155:p.Leu343Val					PIK3C2B_ENST00000424712.2_Missense_Mutation_p.L343V	p.L343V	NM_002646.3	NP_002637.3	O00750	P3C2B_HUMAN	GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193)		4	1583	-	all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227)		343					O95666|Q5SW99	Missense_Mutation	SNP	ENST00000367187.3	37	c.1027C>G	CCDS1446.1	.	.	.	.	.	.	.	.	.	.	G	4.664	0.123494	0.08931	.	.	ENSG00000133056	ENST00000367187;ENST00000424712;ENST00000438854;ENST00000367184	T;T	0.59083	0.29;0.43	5.24	4.33	0.51752	.	0.260548	0.31589	N	0.007391	T	0.65026	0.2652	L	0.37630	1.12	0.35328	D	0.785339	B;D	0.63880	0.067;0.993	B;D	0.70016	0.021;0.967	T	0.74334	-0.3699	10	0.72032	D	0.01	.	11.7633	0.51916	0.0822:0.0:0.9178:0.0	.	343;343	F5GWN5;O00750	.;P3C2B_HUMAN	V	343;343;121;121	ENSP00000356155:L343V;ENSP00000400561:L343V	ENSP00000356152:L121V	L	-	1	2	PIK3C2B	202700977	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.717000	0.74707	1.214000	0.43395	0.655000	0.94253	CTG		0.517	PIK3C2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087965.1	NM_002646		33	39	0	0	0	1	0	33	39					C	204434354	G	C	204434354	3	2	435	1	0	0	0	0	1	0	0	0	11910	962	34	5	4001	5	PIK3C2B	1	204434354	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	30668	204434354	44816267	812	21737											
PIK3C2B	5287	broad.mit.edu	37	chr1	204434416	204434416	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	agacctcaaacaactcatggCcattggcaacagtgtggggc	12	7	11	11	0	2	1	2	0	0	1	2	1	2	1	2	4	3	1	2	4	3	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:204434416C>T	ENST00000367187.3	-	4	1521	c.965G>A	c.(964-966)gGc>gAc	p.G322D	PIK3C2B_ENST00000424712.2_Missense_Mutation_p.G322D	NM_002646.3	NP_002637.3	O00750	P3C2B_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta	322					phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|protein kinase B signaling (GO:0043491)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|lipid kinase activity (GO:0001727)|phosphatidylinositol binding (GO:0035091)			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(4)|large_intestine(11)|lung(24)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	52	all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227)		GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193)			CAACTCATGGCCATTGGCAAC	0.517																																						ENST00000367187.3																			0				breast(3)|central_nervous_system(1)|cervix(2)|endometrium(4)|large_intestine(11)|lung(24)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	52						c.(964-966)gGc>gAc		phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta							113	119	117					1																	204434416		2203	4300	6503	SO:0001583	missense	5287				cell communication|phosphatidylinositol-mediated signaling	endoplasmic reticulum|microsome|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity|protein binding	g.chr1:204434416C>T	Y11312	CCDS1446.1	1q32	2012-07-13	2012-07-13		ENSG00000133056	ENSG00000133056	2.7.1.154		8972	protein-coding gene	gene with protein product		602838	"phosphoinositide-3-kinase, class 2, beta polypeptide"			9144573, 9830063	Standard	NM_002646		Approved	C2-PI3K, PI3K-C2beta	uc001haw.3	O00750	OTTHUMG00000036101	ENST00000367187.3:c.965G>A	1.37:g.204434416C>T	ENSP00000356155:p.Gly322Asp					PIK3C2B_ENST00000424712.2_Missense_Mutation_p.G322D	p.G322D	NM_002646.3	NP_002637.3	O00750	P3C2B_HUMAN	GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193)		4	1521	-	all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227)		322					O95666|Q5SW99	Missense_Mutation	SNP	ENST00000367187.3	37	c.965G>A	CCDS1446.1	.	.	.	.	.	.	.	.	.	.	C	24.9	4.578364	0.86645	.	.	ENSG00000133056	ENST00000367187;ENST00000424712;ENST00000438854;ENST00000367184	T;T	0.63580	-0.03;-0.05	5.24	5.24	0.73138	.	0.538685	0.18916	N	0.127618	T	0.76898	0.4052	L	0.58101	1.795	0.45129	D	0.998143	P;D	0.89917	0.941;1.0	P;D	0.87578	0.794;0.998	T	0.78588	-0.2146	10	0.87932	D	0	.	16.6295	0.85029	0.0:1.0:0.0:0.0	.	322;322	F5GWN5;O00750	.;P3C2B_HUMAN	D	322;322;100;100	ENSP00000356155:G322D;ENSP00000400561:G322D	ENSP00000356152:G100D	G	-	2	0	PIK3C2B	202701039	1.000000	0.71417	1.000000	0.80357	0.907000	0.53573	5.056000	0.64287	2.445000	0.82738	0.655000	0.94253	GGC		0.517	PIK3C2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087965.1	NM_002646		19	45	0	0	0	1	0	19	45					T	204434416	C	T	204434416	3	4	435	1	0	0	0	0	1	0	0	0	11910	739	26	3	4063	3	PIK3C2B	1	204434416	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	62	204434416	44816205	813	21738											
NFASC	23114	broad.mit.edu	37	chr1	204966414	204966414	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tccccatcatcccaactgtcGcacctaccaccatcgccacc	9	7	3	22	2	1	0	1	0	0	0	5	0	3	0	8	0	2	1	8	0	2	1	rs566469690		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:204966414G>A	ENST00000401399.1	+	24	3098	c.2899G>A	c.(2899-2901)Gca>Aca	p.A967T	NFASC_ENST00000404907.1_Intron|NFASC_ENST00000513543.1_Intron|NFASC_ENST00000404076.1_Intron|NFASC_ENST00000338515.6_Missense_Mutation_p.A1074T|NFASC_ENST00000495396.1_Intron|NFASC_ENST00000367171.4_Missense_Mutation_p.A1059T|NFASC_ENST00000367169.4_Intron|NFASC_ENST00000338586.6_Intron|NFASC_ENST00000367172.4_Missense_Mutation_p.A1074T|NFASC_ENST00000539706.1_Intron|NFASC_ENST00000339876.6_Missense_Mutation_p.A967T|NFASC_ENST00000360049.4_Intron|NFASC_ENST00000367170.4_Intron			O94856	NFASC_HUMAN	neurofascin	1074	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|clustering of voltage-gated sodium channels (GO:0045162)|heterotypic cell-cell adhesion (GO:0034113)|myelination (GO:0042552)|paranodal junction assembly (GO:0030913)|peripheral nervous system development (GO:0007422)|protein localization to juxtaparanode region of axon (GO:0071205)|protein localization to paranode region of axon (GO:0002175)|synapse organization (GO:0050808)|transmission of nerve impulse (GO:0019226)	axon initial segment (GO:0043194)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|node of Ranvier (GO:0033268)|paranodal junction (GO:0033010)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)				NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	81	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			CCCAACTGTCGCACCTaccac	0.637													G|||	1	0.000199681	0	0	5008	,	,		17086	0.001		0	False		,,,				2504	0					ENST00000367172.4																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	81						c.(3220-3222)Gca>Aca		neurofascin							224	273	258					1																	204966414		1567	3582	5149	SO:0001583	missense	23114				axon guidance|cell adhesion|myelination|peripheral nervous system development	integral to membrane|node of Ranvier|plasma membrane	protein binding	g.chr1:204966414G>A	AK027553	CCDS30982.1, CCDS53460.1, CCDS53461.1, CCDS53462.1	1q32.1	2013-02-11	2010-06-24		ENSG00000163531	ENSG00000163531		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	29866	protein-coding gene	gene with protein product		609145	"neurofascin homolog (chicken)"			1377696, 8672144	Standard	NM_015090		Approved	NRCAML, KIAA0756, FLJ46866, NF	uc001hbj.3	O94856	OTTHUMG00000151697	ENST00000401399.1:c.2899G>A	1.37:g.204966414G>A	ENSP00000385637:p.Ala967Thr					NFASC_ENST00000513543.1_Intron|NFASC_ENST00000338515.6_Missense_Mutation_p.A1074T|NFASC_ENST00000404076.1_Intron|NFASC_ENST00000367169.4_Intron|NFASC_ENST00000539706.1_Intron|NFASC_ENST00000495396.1_Intron|NFASC_ENST00000367171.4_Missense_Mutation_p.A1059T|NFASC_ENST00000360049.4_Intron|NFASC_ENST00000339876.6_Missense_Mutation_p.A967T|NFASC_ENST00000367170.4_Intron|NFASC_ENST00000401399.1_Missense_Mutation_p.A967T|NFASC_ENST00000404907.1_Intron|NFASC_ENST00000338586.6_Intron	p.A1074T			O94856	NFASC_HUMAN	KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)		27	3548	+	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		1074			Thr-rich.		B2RNN8|B3KQZ1|B5MDP6|B5MDR6|B7ZMD8|Q149P5|Q5T2F0|Q5T2F1|Q5T2F2|Q5T2F3|Q5T2F4|Q5T2F5|Q5T2F6|Q5T2F7|Q5T2F9|Q5T2G0|Q5W9F8|Q68DH3|Q6ZQV6|Q7Z3K1|Q96HT1|Q96K50	Missense_Mutation	SNP	ENST00000401399.1	37	c.3220G>A	CCDS53460.1	.	.	.	.	.	.	.	.	.	.	G	14.33	2.503410	0.44558	.	.	ENSG00000163531	ENST00000367172;ENST00000367171;ENST00000338515;ENST00000339876;ENST00000401399;ENST00000447819	T;T;T;T;T;T	0.78126	-0.05;0.57;-0.04;-0.07;-0.07;-1.15	5.01	4.1	0.47936	.	0.677066	0.12426	N	0.469983	T	0.60586	0.2280	.	.	.	0.80722	D	1	P;B	0.34462	0.454;0.001	B;B	0.23852	0.049;0.002	T	0.52026	-0.8630	9	0.20046	T	0.44	.	9.3926	0.38383	0.0991:0.0:0.9009:0.0	.	1074;967	O94856-7;O94856-9	.;.	T	1074;1059;1074;967;967;35	ENSP00000356140:A1074T;ENSP00000356139:A1059T;ENSP00000342128:A1074T;ENSP00000344786:A967T;ENSP00000385637:A967T;ENSP00000416891:A35T	ENSP00000342128:A1074T	A	+	1	0	NFASC	203233037	0.952000	0.32445	0.994000	0.49952	0.995000	0.86356	2.056000	0.41355	1.112000	0.41740	0.655000	0.94253	GCA		0.637	NFASC-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000131237.1	NM_001005388		8	3	0	0	0	1	0	8	3					A	204966414	G	A	204966414	3	1	435	1	0	0	0	0	1	0	0	0	10359	1087	38	1	3402	1	NFASC	1	204966414	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	531998	204966414	44284207	814	21739											
DSTYK	25778	broad.mit.edu	37	chr1	205116859	205116859	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctcatcaaacacaggaagacGttctgggcgagcccctagag	12	6	11	12	2	3	2	2	0	1	2	3	4	3	3	2	2	2	1	2	2	3	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:205116859G>A	ENST00000367162.3	-	13	2647	c.2617C>T	c.(2617-2619)Cgt>Tgt	p.R873C	DSTYK_ENST00000367160.4_Missense_Mutation_p.R532C|DSTYK_ENST00000367161.3_Missense_Mutation_p.R828C	NM_015375.2	NP_056190.1	Q6XUX3	DUSTY_HUMAN	dual serine/threonine and tyrosine protein kinase	873	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular response to fibroblast growth factor stimulus (GO:0044344)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast growth factor receptor signaling pathway (GO:0045743)|positive regulation of kinase activity (GO:0033674)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)			breast(2)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(2)	14						ACAGGAAGACGTTCTGGGCGA	0.552																																						ENST00000367162.3																			0				breast(2)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(2)	14						c.(2617-2619)Cgt>Tgt		dual serine/threonine and tyrosine protein kinase							82	84	83					1																	205116859		2203	4300	6503	SO:0001583	missense	25778					cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr1:205116859G>A	AF068286	CCDS1451.1, CCDS1452.1	1q32	2008-12-18	2008-12-18	2008-12-18	ENSG00000133059	ENSG00000133059			29043	protein-coding gene	gene with protein product		612666	"receptor interacting protein kinase 5"	RIPK5		15178406	Standard	NM_015375		Approved	KIAA0472, DustyPK, RIP5	uc001hbw.3	Q6XUX3	OTTHUMG00000037102	ENST00000367162.3:c.2617C>T	1.37:g.205116859G>A	ENSP00000356130:p.Arg873Cys					DSTYK_ENST00000367160.4_Missense_Mutation_p.R532C|DSTYK_ENST00000367161.3_Missense_Mutation_p.R828C	p.R873C	NM_015375.2	NP_056190.1	Q6XUX3	DUSTY_HUMAN			13	2647	-			873			Protein kinase.		B7ZL64|O75060|Q17R94|Q5RKT0|Q6IN87|Q6P997|Q86Y03|Q9P1S5	Missense_Mutation	SNP	ENST00000367162.3	37	c.2617C>T	CCDS1451.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.373534	0.82573	.	.	ENSG00000133059	ENST00000367160;ENST00000367161;ENST00000367162	T;T;T	0.66099	-0.19;1.96;-0.19	5.79	5.79	0.91817	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.67154	0.2863	L	0.39692	1.235	0.47123	D	0.999323	D;D	0.61697	0.99;0.979	P;P	0.56612	0.802;0.779	T	0.68834	-0.5304	10	0.66056	D	0.02	-15.6032	14.4756	0.67544	0.0:0.0:0.8529:0.1471	.	828;873	Q6XUX3-2;Q6XUX3	.;DUSTY_HUMAN	C	532;828;873	ENSP00000356128:R532C;ENSP00000356129:R828C;ENSP00000356130:R873C	ENSP00000356128:R532C	R	-	1	0	DSTYK	203383482	1.000000	0.71417	0.790000	0.31976	0.949000	0.60115	6.129000	0.71657	2.739000	0.93911	0.655000	0.94253	CGT		0.552	DSTYK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090345.1	NM_015375		38	49	0	0	0	1	0	38	49					A	205116859	G	A	205116859	3	1	435	1	0	0	0	0	1	0	0	0	4785	1145	40	1	176	1	DSTYK	1	205116859	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	150445	205116859	44133762	815	21740											
LEMD1	93273	broad.mit.edu	37	chr1	205388421	205388421	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tccattcatcacaggtggtgCacagggaggtgagaccaaca	12	7	12	10	0	2	1	2	1	0	1	3	3	3	2	2	4	2	1	2	4	1	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:205388421C>T	ENST00000367153.4	-	3	244	c.142G>A	c.(142-144)Gca>Aca	p.A48T	LEMD1_ENST00000367154.1_Missense_Mutation_p.A48T|LEMD1_ENST00000367151.2_Intron|LEMD1_ENST00000367149.3_Intron|LEMD1_ENST00000391936.2_Missense_Mutation_p.A48T|LEMD1_ENST00000476884.1_Intron|LEMD1_ENST00000367152.1_Intron	NM_001199050.1	NP_001185979.1	Q68G75	LEMD1_HUMAN	LEM domain containing 1	48						integral component of membrane (GO:0016021)				breast(1)|lung(2)	3	Breast(84;0.247)		BRCA - Breast invasive adenocarcinoma(75;0.0938)			ACAGGTGGTGCACAGGGAGGT	0.453																																						ENST00000367153.4																			0				breast(1)|lung(2)	3						c.(142-144)Gca>Aca		LEM domain containing 1							154	145	148					1																	205388421		2203	4300	6503	SO:0001583	missense	93273					integral to membrane|nuclear envelope		g.chr1:205388421C>T		CCDS30986.1, CCDS55677.1, CCDS55678.1, CCDS55679.1	1q32.1	2009-03-25			ENSG00000186007	ENSG00000186007			18725	protein-coding gene	gene with protein product	"cancer/testis antigen 50"	610480				15254688	Standard	NM_001199050		Approved	LEMP-1, CT50	uc001hcj.2	Q68G75	OTTHUMG00000037201	ENST00000367153.4:c.142G>A	1.37:g.205388421C>T	ENSP00000356121:p.Ala48Thr					LEMD1_ENST00000367149.3_Intron|LEMD1_ENST00000367151.2_Intron|LEMD1_ENST00000476884.1_Intron|LEMD1_ENST00000391936.2_Missense_Mutation_p.A48T|LEMD1_ENST00000367154.1_Missense_Mutation_p.A48T|LEMD1_ENST00000367152.1_Intron	p.A48T	NM_001199050.1	NP_001185979.1	Q68G75	LEMD1_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.0938)		3	244	-	Breast(84;0.247)		48					Q6L9T9|Q6L9U0|Q6L9U1|Q6L9U2|Q6L9U3|Q6L9U4	Missense_Mutation	SNP	ENST00000367153.4	37	c.142G>A	CCDS55679.1	.	.	.	.	.	.	.	.	.	.	C	11.86	1.763471	0.31228	.	.	ENSG00000186007	ENST00000367153;ENST00000367154;ENST00000391936	T;T;T	0.42513	0.97;0.97;0.97	5.65	0.31	0.15825	LEM-like domain (1);	1.097100	0.06854	N	0.797776	T	0.26629	0.0651	L	0.29908	0.895	0.09310	N	1	B;B	0.29270	0.24;0.16	B;B	0.27608	0.081;0.037	T	0.24297	-1.0164	10	0.20046	T	0.44	-1.8976	4.5658	0.12186	0.0:0.5039:0.1528:0.3433	.	48;48	Q68G75;Q68G75-5	LEMD1_HUMAN;.	T	48	ENSP00000356121:A48T;ENSP00000356122:A48T;ENSP00000375801:A48T	ENSP00000356121:A48T	A	-	1	0	LEMD1	203655044	0.000000	0.05858	0.008000	0.14137	0.027000	0.11550	-0.745000	0.04834	0.410000	0.25675	0.563000	0.77884	GCA		0.453	LEMD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090401.1	NM_001001552		46	35	0	0	0	1	0	46	35					T	205388421	C	T	205388421	3	4	435	1	0	0	0	0	1	0	0	0	8719	710	25	3	192	3	LEMD1	1	205388421	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	271562	205388421	43862200	816	21741											
CDK18	5129	broad.mit.edu	37	chr1	205495959	205495959	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aacctcatgagcatgcacaaCgtcaaggtgaggcctcaggg	12	6	12	11	1	3	2	3	2	0	0	3	2	3	2	2	3	4	2	2	3	3	0	rs200375022		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:205495959C>T	ENST00000360066.2	+	8	1024	c.723C>T	c.(721-723)aaC>aaT	p.N241N	CDK18_ENST00000429964.2_Silent_p.N241N|CDK18_ENST00000506784.1_Silent_p.N271N|CDK18_ENST00000509056.1_3'UTR	NM_002596.3|NM_212502.2|NM_212503.2	NP_002587.2|NP_997667.1|NP_997668.1	Q07002	CDK18_HUMAN	cyclin-dependent kinase 18	239	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.						ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)			breast(2)|endometrium(2)|large_intestine(2)|lung(10)|stomach(2)|urinary_tract(1)	19						GCATGCACAACGTCAAGGTGA	0.627													C|||	1	0.000199681	0	0.0014	5008	,	,		20036	0		0	False		,,,				2504	0				Pancreas(180;489 2072 28461 40831 44265)	ENST00000360066.2																			0				breast(2)|endometrium(2)|large_intestine(2)|lung(10)|stomach(2)|urinary_tract(1)	19						c.(721-723)aaC>aaT		cyclin-dependent kinase 18		C	,,	0,4406		0,0,2203	147	125	133		723,723,813	-9.2	0.8	1		133	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous	CDK18	NM_002596.3,NM_212502.2,NM_212503.2	,,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,,	241/475,241/475,271/505	205495959	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	5129						ATP binding|cyclin-dependent protein kinase activity|protein binding|signal transducer activity	g.chr1:205495959C>T	X66362	CCDS1454.1, CCDS44300.1	1q31-q32	2011-11-08	2009-12-16	2009-12-16	ENSG00000117266	ENSG00000117266		"Cyclin-dependent kinases"	8751	protein-coding gene	gene with protein product		169190	"PCTAIRE protein kinase 3"	PCTK3		1437147, 19884882	Standard	NM_002596		Approved	PCTAIRE3	uc010pri.2	Q07002	OTTHUMG00000037203	ENST00000360066.2:c.723C>T	1.37:g.205495959C>T						CDK18_ENST00000506784.1_Silent_p.N271N|CDK18_ENST00000509056.1_3'UTR|CDK18_ENST00000429964.2_Silent_p.N241N	p.N241N	NM_002596.3|NM_212502.2|NM_212503.2	NP_002587.2|NP_997667.1|NP_997668.1	Q07002	CDK18_HUMAN			8	1024	+			239			Protein kinase.		Q5VXQ2|Q6V3A2|Q6V3A3|Q96F90	Silent	SNP	ENST00000360066.2	37	c.723C>T	CCDS44300.1																																																																																				0.627	CDK18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090407.2	NM_002596		27	55	0	0	0	1	0	27	55					T	205495959	C	T	205495959	2	4	435	1	0	0	0	0	0	0	0	1	3134	535	19	1		1	CDK18	1	205495959	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	107538	205495959	43754662	817	21742											
SLC26A9	115019	broad.mit.edu	37	chr1	205899137	205899137	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aagccccggatgaaggactcGgagaggtagatggccacaaa	14	4	14	9	2	0	3	0	1	0	2	1	6	0	5	3	5	1	1	3	5	4	1	rs553567883		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:205899137G>A	ENST00000367135.3	-	6	713	c.600C>T	c.(598-600)tcC>tcT	p.S200S	SLC26A9_ENST00000340781.4_Silent_p.S200S|SLC26A9_ENST00000367134.2_Silent_p.S200S	NM_052934.3	NP_443166.1	Q7LBE3	S26A9_HUMAN	solute carrier family 26 (anion exchanger), member 9	200					anion transport (GO:0006820)|bicarbonate transport (GO:0015701)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|positive regulation of gene expression (GO:0010628)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	anion:anion antiporter activity (GO:0015301)|ATPase binding (GO:0051117)|bicarbonate transmembrane transporter activity (GO:0015106)|chloride channel activity (GO:0005254)|secondary active sulfate transmembrane transporter activity (GO:0008271)			NS(1)|breast(3)|endometrium(11)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|skin(7)|urinary_tract(5)	52	Breast(84;0.201)		BRCA - Breast invasive adenocarcinoma(75;0.0458)			TGAAGGACTCGGAGAGGTAGA	0.572													G|||	1	0.000199681	0	0	5008	,	,		20475	0		0	False		,,,				2504	0.001					ENST00000367135.3																			0				NS(1)|breast(3)|endometrium(11)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|skin(7)|urinary_tract(5)	52						c.(598-600)tcC>tcT		solute carrier family 26 (anion exchanger), member 9							72	62	65					1																	205899137		2203	4300	6503	SO:0001819	synonymous_variant	115019					integral to membrane	chloride channel activity|secondary active sulfate transmembrane transporter activity	g.chr1:205899137G>A	AF331525	CCDS30989.1, CCDS30990.1	1q32.1	2013-07-18	2013-07-18		ENSG00000174502	ENSG00000174502		"Solute carriers"	14469	protein-coding gene	gene with protein product	"anion transporter/exchanger-9"	608481	"solute carrier family 26, member 9"			11834742	Standard	NM_134325		Approved		uc001hdp.3	Q7LBE3	OTTHUMG00000036001	ENST00000367135.3:c.600C>T	1.37:g.205899137G>A						SLC26A9_ENST00000367134.2_Silent_p.S200S|SLC26A9_ENST00000340781.4_Silent_p.S200S	p.S200S	NM_052934.3	NP_443166.1	Q7LBE3	S26A9_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.0458)		6	713	-	Breast(84;0.201)		200					A7E2V6|B1AVM8|B1AVM9|B7ZKK2|Q96PK9|Q96RN0	Silent	SNP	ENST00000367135.3	37	c.600C>T	CCDS30990.1																																																																																				0.572	SLC26A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087742.1	NM_052934		7	6	0	0	0	1	0	7	6					A	205899137	G	A	205899137	2	1	435	1	0	0	0	0	0	0	0	1	14524	1103	39	2		2	SLC26A9	1	205899137	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	403178	205899137	43351484	818	21743											
AVPR1B	553	broad.mit.edu	37	chr1	206225087	206225087	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgccggtgaccatgctcaCggcctgctacagcctcatct	6	10	9	16	2	4	1	2	1	2	0	4	1	4	1	4	2	5	2	4	2	1	1	rs200893536	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:206225087C>T	ENST00000367126.4	+	1	1112	c.647C>T	c.(646-648)aCg>aTg	p.T216M	RP11-38J22.3_ENST00000425896.1_RNA	NM_000707.3	NP_000698.1	P47901	V1BR_HUMAN	arginine vasopressin receptor 1B	216					activation of phospholipase C activity (GO:0007202)|G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of systemic arterial blood pressure by vasopressin (GO:0001992)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	protein kinase C binding (GO:0005080)|vasopressin receptor activity (GO:0005000)			breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(3)|prostate(1)|skin(2)	20			BRCA - Breast invasive adenocarcinoma(75;0.0312)		Desmopressin(DB00035)|Terlipressin(DB02638)|Vasopressin(DB00067)	ACCATGCTCACGGCCTGCTAC	0.612													C|||	2	0.000399361	0	0	5008	,	,		16735	0.001		0.001	False		,,,				2504	0					ENST00000367126.4																			0				breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(3)|prostate(1)|skin(2)	20						c.(646-648)aCg>aTg		arginine vasopressin receptor 1B	Desmopressin(DB00035)|Terlipressin(DB02638)|Vasopressin(DB00067)						53	53	53					1																	206225087		2199	4296	6495	SO:0001583	missense	553				activation of phospholipase C activity|elevation of cytosolic calcium ion concentration	endosome|integral to plasma membrane	protein kinase C binding|vasopressin receptor activity	g.chr1:206225087C>T	D31833	CCDS73015.1	1q32	2014-05-06			ENSG00000198049	ENSG00000198049		"GPCR / Class A : Vasopressin and oxytocin receptors"	896	protein-coding gene	gene with protein product		600264		AVPR3		7929452, 8586456	Standard	NM_000707		Approved		uc001hds.2	P47901	OTTHUMG00000184377	ENST00000367126.4:c.647C>T	1.37:g.206225087C>T	ENSP00000356094:p.Thr216Met						p.T216M	NM_000707.3	NP_000698.1	P47901	V1BR_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.0312)		1	1112	+			216					B0M0J6|Q5TZ00	Missense_Mutation	SNP	ENST00000367126.4	37	c.647C>T	CCDS30994.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	10.49	1.365873	0.24684	.	.	ENSG00000198049	ENST00000367126	T	0.72394	-0.65	5.66	3.46	0.39613	GPCR, rhodopsin-like superfamily (1);	0.249318	0.35555	N	0.003130	T	0.63260	0.2496	L	0.48877	1.53	0.32970	D	0.522166	B	0.30193	0.272	B	0.33521	0.165	T	0.70360	-0.4893	10	0.40728	T	0.16	-9.6728	10.6495	0.45640	0.0:0.7689:0.0:0.2311	.	216	P47901	V1BR_HUMAN	M	216	ENSP00000356094:T216M	ENSP00000356094:T216M	T	+	2	0	AVPR1B	204391710	0.825000	0.29262	0.926000	0.36857	0.754000	0.42855	1.556000	0.36288	1.396000	0.46663	0.563000	0.77884	ACG		0.612	AVPR1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087996.1	NM_000707		37	36	0	0	0	1	0	37	36					T	206225087	C	T	206225087	3	4	435	1	0	0	0	0	1	0	0	0	1232	536	19	1	649	1	AVPR1B	1	206225087	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	325950	206225087	43025534	819	21744											
LGTN	1939	broad.mit.edu	37	chr1	206782805	206782805	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agatcaggataggaccacagCgtgtacactgtacaaaaaga	17	6	10	8	1	1	2	1	0	0	2	1	4	1	4	1	2	3	2	1	2	5	3	rs567075839		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:206782805C>T	ENST00000271764.2	-	3	463	c.255G>A	c.(253-255)acG>acA	p.T85T	EIF2D_ENST00000367114.3_Silent_p.T85T	NM_006893.2	NP_008824.2	P41214	EIF2D_HUMAN	eukaryotic translation initiation factor 2D	85					formation of translation preinitiation complex (GO:0001731)|intracellular protein transport (GO:0006886)|IRES-dependent translational initiation (GO:0002192)|ribosome disassembly (GO:0032790)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	receptor activity (GO:0004872)|translation initiation factor activity (GO:0003743)			autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	23						AGGACCACAGCGTGTACACTG	0.423													C|||	1	0.000199681	0	0	5008	,	,		19801	0		0	False		,,,				2504	0.001					ENST00000271764.2																			0				autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	23						c.(253-255)acG>acA		eukaryotic translation initiation factor 2D							126	113	118					1																	206782805		2203	4300	6503	SO:0001819	synonymous_variant	1939				intracellular protein transport	cytoplasm	protein binding|receptor activity|translation initiation factor activity	g.chr1:206782805C>T	BC001585	CCDS1465.1, CCDS55680.1	1q32.1	2014-05-06	2011-01-19	2011-01-19	ENSG00000143486	ENSG00000143486			6583	protein-coding gene	gene with protein product		613709				20566627	Standard	NM_001201478		Approved	LGTN	uc001heh.2	P41214	OTTHUMG00000184619	ENST00000271764.2:c.255G>A	1.37:g.206782805C>T						EIF2D_ENST00000367114.3_Silent_p.T85T	p.T85T	NM_006893.2	NP_008824.2	P41214	EIF2D_HUMAN			3	463	-			85					Q5SY40|Q8IXV3|Q96DG3|Q96TG7|Q9NR27|Q9NSN0|Q9NV18|Q9NZ21	Silent	SNP	ENST00000271764.2	37	c.255G>A	CCDS1465.1																																																																																				0.423	EIF2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088475.1	NM_006893		8	46	0	0	0	1	0	8	46					T	206782805	C	T	206782805	2	4	435	1	0	0	0	0	0	0	0	1	8760	755	27	1		1	LGTN	1	206782805	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	557718	206782805	42467816	820	21745											
DYRK3	8444	broad.mit.edu	37	chr1	206821277	206821277	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aatggtgcgcaatgagaagcGctttcatcgtcaagcagctg	11	9	12	9	3	2	1	2	1	0	1	3	2	2	1	0	1	4	4	0	1	4	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:206821277G>A	ENST00000367109.2	+	3	902	c.734G>A	c.(733-735)cGc>cAc	p.R245H	DYRK3_ENST00000489878.1_Intron|DYRK3_ENST00000367106.1_Missense_Mutation_p.R225H|DYRK3_ENST00000367108.3_Missense_Mutation_p.R225H	NM_003582.2	NP_003573.2	O43781	DYRK3_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 3	245	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				erythrocyte differentiation (GO:0030218)|protein phosphorylation (GO:0006468)	nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(9)|lung(8)|skin(1)|stomach(2)	25	Breast(84;0.183)		BRCA - Breast invasive adenocarcinoma(75;0.166)			AATGAGAAGCGCTTTCATCGT	0.458																																					Melanoma(164;427 2622 26826 51707)	ENST00000367106.1																			0				central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(9)|lung(8)|skin(1)|stomach(2)	25						c.(673-675)cGc>cAc		dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 3							92	89	90					1																	206821277		2203	4300	6503	SO:0001583	missense	8444				erythrocyte differentiation	nucleus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr1:206821277G>A	Y12735	CCDS30999.1, CCDS31000.1	1q32	2008-07-18			ENSG00000143479	ENSG00000143479	2.7.12.1		3094	protein-coding gene	gene with protein product	"regulatory erythroid kinase", "dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 5", "protein kinase Dyrk3"	603497				9748265	Standard	NM_003582		Approved	RED, REDK, hYAK3-2	uc001hej.3	O43781	OTTHUMG00000036339	ENST00000367109.2:c.734G>A	1.37:g.206821277G>A	ENSP00000356076:p.Arg245His					DYRK3_ENST00000489878.1_Intron|DYRK3_ENST00000367108.3_Missense_Mutation_p.R225H|DYRK3_ENST00000367109.2_Missense_Mutation_p.R245H	p.R225H			O43781	DYRK3_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.166)		4	1147	+	Breast(84;0.183)		245			Protein kinase.		D3DT79|Q7Z752|Q9HBY6|Q9HBY7	Missense_Mutation	SNP	ENST00000367109.2	37	c.674G>A	CCDS30999.1	.	.	.	.	.	.	.	.	.	.	G	19.02	3.745213	0.69418	.	.	ENSG00000143479	ENST00000367109;ENST00000367108;ENST00000441486;ENST00000367106	T;T;T;T	0.66815	-0.23;-0.23;-0.23;-0.23	5.2	4.29	0.51040	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.73148	0.3550	L	0.46157	1.445	0.80722	D	1	D;D	0.71674	0.997;0.998	P;P	0.61533	0.89;0.771	T	0.76170	-0.3057	10	0.87932	D	0	.	12.8106	0.57637	0.0783:0.0:0.9217:0.0	.	245;225	O43781;O43781-2	DYRK3_HUMAN;.	H	245;225;225;225	ENSP00000356076:R245H;ENSP00000356075:R225H;ENSP00000410187:R225H;ENSP00000356073:R225H	ENSP00000356073:R225H	R	+	2	0	DYRK3	204887900	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	9.619000	0.98369	1.436000	0.47453	0.478000	0.44815	CGC		0.458	DYRK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088458.1	NM_003582		32	52	0	0	0	1	0	32	52					A	206821277	G	A	206821277	3	1	435	1	0	0	0	0	1	0	0	0	4857	1087	38	1	765	1	DYRK3	1	206821277	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	38472	206821277	42429344	821	21746											
DYRK3	8444	broad.mit.edu	37	chr1	206821761	206821761	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagaacttttaacaggacaGcctctcttccctggagagga	11	9	10	11	0	1	2	0	0	1	2	3	5	2	4	2	3	3	1	2	3	2	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:206821761G>T	ENST00000367109.2	+	3	1386	c.1218G>T	c.(1216-1218)caG>caT	p.Q406H	DYRK3_ENST00000489878.1_Intron|DYRK3_ENST00000367106.1_Missense_Mutation_p.Q386H|DYRK3_ENST00000367108.3_Missense_Mutation_p.Q386H	NM_003582.2	NP_003573.2	O43781	DYRK3_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 3	406	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				erythrocyte differentiation (GO:0030218)|protein phosphorylation (GO:0006468)	nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(9)|lung(8)|skin(1)|stomach(2)	25	Breast(84;0.183)		BRCA - Breast invasive adenocarcinoma(75;0.166)			TAACAGGACAGCCTCTCTTCC	0.498																																					Melanoma(164;427 2622 26826 51707)	ENST00000367106.1																			0				central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(9)|lung(8)|skin(1)|stomach(2)	25						c.(1156-1158)caG>caT		dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 3							111	118	116					1																	206821761		2203	4300	6503	SO:0001583	missense	8444				erythrocyte differentiation	nucleus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr1:206821761G>T	Y12735	CCDS30999.1, CCDS31000.1	1q32	2008-07-18			ENSG00000143479	ENSG00000143479	2.7.12.1		3094	protein-coding gene	gene with protein product	"regulatory erythroid kinase", "dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 5", "protein kinase Dyrk3"	603497				9748265	Standard	NM_003582		Approved	RED, REDK, hYAK3-2	uc001hej.3	O43781	OTTHUMG00000036339	ENST00000367109.2:c.1218G>T	1.37:g.206821761G>T	ENSP00000356076:p.Gln406His					DYRK3_ENST00000489878.1_Intron|DYRK3_ENST00000367108.3_Missense_Mutation_p.Q386H|DYRK3_ENST00000367109.2_Missense_Mutation_p.Q406H	p.Q386H			O43781	DYRK3_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.166)		4	1631	+	Breast(84;0.183)		406			Protein kinase.		D3DT79|Q7Z752|Q9HBY6|Q9HBY7	Missense_Mutation	SNP	ENST00000367109.2	37	c.1158G>T	CCDS30999.1	.	.	.	.	.	.	.	.	.	.	G	10.82	1.458855	0.26248	.	.	ENSG00000143479	ENST00000367109;ENST00000367108;ENST00000367106	T;T;T	0.66099	-0.19;-0.19;-0.19	5.31	3.42	0.39159	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.111774	0.64402	D	0.000006	T	0.37679	0.1012	N	0.11364	0.135	0.36836	D	0.887143	B;B	0.13594	0.002;0.008	B;B	0.18263	0.021;0.012	T	0.25222	-1.0138	10	0.48119	T	0.1	.	4.5199	0.11954	0.0807:0.3039:0.4751:0.1403	.	406;386	O43781;O43781-2	DYRK3_HUMAN;.	H	406;386;386	ENSP00000356076:Q406H;ENSP00000356075:Q386H;ENSP00000356073:Q386H	ENSP00000356073:Q386H	Q	+	3	2	DYRK3	204888384	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.168000	0.50801	0.789000	0.33779	0.555000	0.69702	CAG		0.498	DYRK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088458.1	NM_003582		36	67	1	0	6.53348e-20	1	7.23485e-20	36	67					T	206821761	G	T	206821761	3	4	435	1	0	0	0	0	1	0	0	0	4857	962	34	5	1249	5	DYRK3	1	206821761	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	484	206821761	42428860	822	21747											
IL10	3586	broad.mit.edu	37	chr1	206944258	206944258	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gatctgctacttacacagcgCcgtagcctcagcctgagggt	8	9	11	13	2	2	1	1	1	1	0	2	2	2	1	3	1	6	2	3	1	3	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:206944258C>T	ENST00000423557.1	-	3	430	c.372G>A	c.(370-372)cgG>cgA	p.R124R	IL10_ENST00000471071.1_5'UTR	NM_000572.2	NP_000563.1	P22301	IL10_HUMAN	interleukin 10	124					B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|branching involved in labyrinthine layer morphogenesis (GO:0060670)|cell-cell signaling (GO:0007267)|cellular response to estradiol stimulus (GO:0071392)|cellular response to lipopolysaccharide (GO:0071222)|cytoplasmic sequestering of NF-kappaB (GO:0007253)|defense response to bacterium (GO:0042742)|hemopoiesis (GO:0030097)|inflammatory response (GO:0006954)|leukocyte chemotaxis (GO:0030595)|negative regulation of apoptotic process (GO:0043066)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of chronic inflammatory response to antigenic stimulus (GO:0002875)|negative regulation of cytokine secretion involved in immune response (GO:0002740)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of interferon-alpha biosynthetic process (GO:0045355)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of membrane protein ectodomain proteolysis (GO:0051045)|negative regulation of MHC class II biosynthetic process (GO:0045347)|negative regulation of myeloid dendritic cell activation (GO:0030886)|negative regulation of nitric oxide biosynthetic process (GO:0045019)|negative regulation of T cell proliferation (GO:0042130)|negative regulation of tumor necrosis factor biosynthetic process (GO:0042536)|negative regulation of tumor necrosis factor production (GO:0032720)|positive regulation of B cell apoptotic process (GO:0002904)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of MHC class II biosynthetic process (GO:0045348)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|receptor biosynthetic process (GO:0032800)|regulation of gene expression (GO:0010468)|regulation of isotype switching (GO:0045191)|regulation of sensory perception of pain (GO:0051930)|response to activity (GO:0014823)|response to carbon monoxide (GO:0034465)|response to drug (GO:0042493)|response to glucocorticoid (GO:0051384)|response to inactivity (GO:0014854)|response to insulin (GO:0032868)|response to molecule of bacterial origin (GO:0002237)|type 2 immune response (GO:0042092)	extracellular space (GO:0005615)	cytokine activity (GO:0005125)|growth factor activity (GO:0008083)|interleukin-10 receptor binding (GO:0005141)			endometrium(1)|large_intestine(6)|lung(4)|prostate(1)	12	Breast(84;0.183)		BRCA - Breast invasive adenocarcinoma(75;0.211)			TTACACAGCGCCGTAGCCTCA	0.547																																						ENST00000423557.1																			0				endometrium(1)|large_intestine(6)|lung(4)|prostate(1)	12						c.(370-372)cgG>cgA		interleukin 10							130	124	126					1																	206944258		2203	4300	6503	SO:0001819	synonymous_variant	3586				anti-apoptosis|B cell differentiation|B cell proliferation|cytoplasmic sequestering of NF-kappaB|inflammatory response|leukocyte chemotaxis|negative regulation of B cell proliferation|negative regulation of cytokine secretion involved in immune response|negative regulation of interferon-alpha biosynthetic process|negative regulation of interleukin-6 production|negative regulation of membrane protein ectodomain proteolysis|negative regulation of MHC class II biosynthetic process|negative regulation of T cell proliferation|positive regulation of B cell apoptosis|positive regulation of cytokine secretion|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|receptor biosynthetic process|regulation of isotype switching|response to glucocorticoid stimulus|type 2 immune response	extracellular space	cytokine activity|growth factor activity|interleukin-10 receptor binding	g.chr1:206944258C>T	M57627	CCDS1467.1	1q31-q32	2011-07-14			ENSG00000136634	ENSG00000136634		"Interleukins and interleukin receptors"	5962	protein-coding gene	gene with protein product	"cytokine synthesis inhibitory factor", "T-cell growth inhibitory factor"	124092				9162098	Standard	NM_000572		Approved	CSIF, TGIF, IL10A, IL-10	uc001hen.1	P22301	OTTHUMG00000036386	ENST00000423557.1:c.372G>A	1.37:g.206944258C>T						IL10_ENST00000471071.1_5'UTR	p.R124R	NM_000572.2	NP_000563.1	P22301	IL10_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.211)		3	430	-	Breast(84;0.183)		124						Silent	SNP	ENST00000423557.1	37	c.372G>A	CCDS1467.1																																																																																				0.547	IL10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088564.3	NM_000572		17	26	0	0	0	1	0	17	26					T	206944258	C	T	206944258	2	4	435	1	0	0	0	0	0	0	0	1	7619	726	26	3		3	IL10	1	206944258	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	122497	206944258	42306363	823	21748											
IL10	3586	broad.mit.edu	37	chr1	206944740	206944740	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gactcctttaacaacaagttGtccagctgatccttcatttg	10	14	6	11	0	1	1	1	1	0	0	4	2	4	1	3	0	3	2	3	0	3	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:206944740G>A	ENST00000423557.1	-	2	244	c.186C>T	c.(184-186)gaC>gaT	p.D62D	IL10_ENST00000471071.1_5'Flank	NM_000572.2	NP_000563.1	P22301	IL10_HUMAN	interleukin 10	62					B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|branching involved in labyrinthine layer morphogenesis (GO:0060670)|cell-cell signaling (GO:0007267)|cellular response to estradiol stimulus (GO:0071392)|cellular response to lipopolysaccharide (GO:0071222)|cytoplasmic sequestering of NF-kappaB (GO:0007253)|defense response to bacterium (GO:0042742)|hemopoiesis (GO:0030097)|inflammatory response (GO:0006954)|leukocyte chemotaxis (GO:0030595)|negative regulation of apoptotic process (GO:0043066)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of chronic inflammatory response to antigenic stimulus (GO:0002875)|negative regulation of cytokine secretion involved in immune response (GO:0002740)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of interferon-alpha biosynthetic process (GO:0045355)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of membrane protein ectodomain proteolysis (GO:0051045)|negative regulation of MHC class II biosynthetic process (GO:0045347)|negative regulation of myeloid dendritic cell activation (GO:0030886)|negative regulation of nitric oxide biosynthetic process (GO:0045019)|negative regulation of T cell proliferation (GO:0042130)|negative regulation of tumor necrosis factor biosynthetic process (GO:0042536)|negative regulation of tumor necrosis factor production (GO:0032720)|positive regulation of B cell apoptotic process (GO:0002904)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of MHC class II biosynthetic process (GO:0045348)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|receptor biosynthetic process (GO:0032800)|regulation of gene expression (GO:0010468)|regulation of isotype switching (GO:0045191)|regulation of sensory perception of pain (GO:0051930)|response to activity (GO:0014823)|response to carbon monoxide (GO:0034465)|response to drug (GO:0042493)|response to glucocorticoid (GO:0051384)|response to inactivity (GO:0014854)|response to insulin (GO:0032868)|response to molecule of bacterial origin (GO:0002237)|type 2 immune response (GO:0042092)	extracellular space (GO:0005615)	cytokine activity (GO:0005125)|growth factor activity (GO:0008083)|interleukin-10 receptor binding (GO:0005141)			endometrium(1)|large_intestine(6)|lung(4)|prostate(1)	12	Breast(84;0.183)		BRCA - Breast invasive adenocarcinoma(75;0.211)			ACAACAAGTtgtccagctgat	0.478																																						ENST00000423557.1																			0				endometrium(1)|large_intestine(6)|lung(4)|prostate(1)	12						c.(184-186)gaC>gaT		interleukin 10							52	45	48					1																	206944740		2203	4299	6502	SO:0001819	synonymous_variant	3586				anti-apoptosis|B cell differentiation|B cell proliferation|cytoplasmic sequestering of NF-kappaB|inflammatory response|leukocyte chemotaxis|negative regulation of B cell proliferation|negative regulation of cytokine secretion involved in immune response|negative regulation of interferon-alpha biosynthetic process|negative regulation of interleukin-6 production|negative regulation of membrane protein ectodomain proteolysis|negative regulation of MHC class II biosynthetic process|negative regulation of T cell proliferation|positive regulation of B cell apoptosis|positive regulation of cytokine secretion|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|receptor biosynthetic process|regulation of isotype switching|response to glucocorticoid stimulus|type 2 immune response	extracellular space	cytokine activity|growth factor activity|interleukin-10 receptor binding	g.chr1:206944740G>A	M57627	CCDS1467.1	1q31-q32	2011-07-14			ENSG00000136634	ENSG00000136634		"Interleukins and interleukin receptors"	5962	protein-coding gene	gene with protein product	"cytokine synthesis inhibitory factor", "T-cell growth inhibitory factor"	124092				9162098	Standard	NM_000572		Approved	CSIF, TGIF, IL10A, IL-10	uc001hen.1	P22301	OTTHUMG00000036386	ENST00000423557.1:c.186C>T	1.37:g.206944740G>A							p.D62D	NM_000572.2	NP_000563.1	P22301	IL10_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.211)		2	244	-	Breast(84;0.183)		62						Silent	SNP	ENST00000423557.1	37	c.186C>T	CCDS1467.1																																																																																				0.478	IL10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088564.3	NM_000572		7	3	0	0	0	1	0	7	3					A	206944740	G	A	206944740	2	1	435	1	0	0	0	0	0	0	0	1	7619	1368	48	3		3	IL10	1	206944740	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	482	206944740	42305881	824	21749											
IL19	29949	broad.mit.edu	37	chr1	206972299	206972299	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tccttaccactcacacatgtGcacacacatatccatgtgtg	11	11	5	14	0	1	0	1	0	0	0	3	0	3	0	3	0	2	1	3	0	2	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:206972299G>A	ENST00000340758.2	+	1	85	c.60G>A	c.(58-60)gtG>gtA	p.V20V		NM_153758.2	NP_715639.1	Q9UHD0	IL19_HUMAN	interleukin 19	0					apoptotic process (GO:0006915)|immune response (GO:0006955)|interleukin-6 biosynthetic process (GO:0042226)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|reactive oxygen species metabolic process (GO:0072593)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	cytokine activity (GO:0005125)			central_nervous_system(2)|large_intestine(1)|lung(2)|ovary(1)|stomach(1)	7			BRCA - Breast invasive adenocarcinoma(75;0.211)			TCACACATGTGCACACACATA	0.527																																						ENST00000340758.2																			0				central_nervous_system(2)|large_intestine(1)|lung(2)|ovary(1)|stomach(1)	7						c.(58-60)gtG>gtA		interleukin 19							181	147	159					1																	206972299		2203	4300	6503	SO:0001819	synonymous_variant	29949				apoptosis|immune response|signal transduction	extracellular space	cytokine activity	g.chr1:206972299G>A	AF192498	CCDS1468.1, CCDS1469.1	1q32.2	2008-07-18			ENSG00000142224	ENSG00000142224		"Interleukins and interleukin receptors"	5990	protein-coding gene	gene with protein product	"melanoma differentiation associated protein-like protein"	605687				11196675	Standard	NM_153758		Approved	IL-19, MDA1, ZMDA1, IL-10C, NG.1	uc001heo.3	Q9UHD0	OTTHUMG00000036387	ENST00000340758.2:c.60G>A	1.37:g.206972299G>A							p.V20V	NM_153758.2	NP_715639.1	Q9UHD0	IL19_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.211)		1	85	+			0					B6VEV9|Q5VUT3|Q96QR4|Q9NUA0	Silent	SNP	ENST00000340758.2	37	c.60G>A	CCDS1468.1																																																																																				0.527	IL19-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000088566.3	NM_153758		19	29	0	0	0	1	0	19	29					A	206972299	G	A	206972299	2	1	435	1	0	0	0	0	0	0	0	1	7649	1306	46	3		3	IL19	1	206972299	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	27559	206972299	42278322	825	21750											
IL24	11009	broad.mit.edu	37	chr1	207073659	207073659	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaagctcaggataacatcaCgagtgcccggctgctgcagc	10	6	12	13	2	2	0	2	0	0	0	2	2	2	1	1	2	6	5	1	2	2	1	rs144126009		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:207073659C>T	ENST00000294984.2	+	4	534	c.260C>T	c.(259-261)aCg>aTg	p.T87M	IL24_ENST00000367093.3_Missense_Mutation_p.T88M|IL24_ENST00000491169.1_3'UTR|IL24_ENST00000391929.3_Missense_Mutation_p.T88M	NM_001185156.1|NM_006850.3	NP_001172085.1|NP_006841.1	Q13007	IL24_HUMAN	interleukin 24	87					apoptotic process (GO:0006915)|cellular response to interleukin-4 (GO:0071353)|cellular response to lipopolysaccharide (GO:0071222)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|serine phosphorylation of STAT3 protein (GO:0033136)|wound healing (GO:0042060)	endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)				endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	12	Breast(84;0.201)					GATAACATCACGAGTGCCCGG	0.542																																						ENST00000367093.3																			0				endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	12						c.(262-264)aCg>aTg		interleukin 24		C	MET/THR,MET/THR,stop/ARG,MET/THR	1,4405	2.1+/-5.4	0,1,2202	68	64	65		263,263,64,260	0.4	0	1	dbSNP_134	65	0,8600		0,0,4300	no	missense,missense,stop-gained,missense	IL24	NM_001185156.1,NM_001185157.1,NM_001185158.1,NM_006850.3	81,81,,81	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	possibly-damaging,possibly-damaging,,possibly-damaging	88/208,88/155,22/64,87/207	207073659	1,13005	2203	4300	6503	SO:0001583	missense	11009				apoptosis	extracellular space	cytokine activity	g.chr1:207073659C>T	U16261	CCDS1471.1, CCDS53465.1, CCDS53466.1, CCDS73021.1	1q32	2011-07-15		2001-06-29	ENSG00000162892	ENSG00000162892		"Interleukins and interleukin receptors"	11346	protein-coding gene	gene with protein product	"melanoma differentiation association protein 7", "suppression of tumorigenicity 16 (melanoma differentiation)", "IL-4-induced secreted protein"	604136		ST16		8545104, 8799171	Standard	NM_001185156		Approved	mda-7, IL10B, Mob-5, C49A, FISP, IL-24	uc001heu.2	Q13007	OTTHUMG00000036459	ENST00000294984.2:c.260C>T	1.37:g.207073659C>T	ENSP00000294984:p.Thr87Met					IL24_ENST00000294984.2_Missense_Mutation_p.T87M|IL24_ENST00000491169.1_3'UTR|IL24_ENST00000391929.3_Missense_Mutation_p.T88M	p.T88M	NM_001185157.1|NM_001185158.1	NP_001172086.1|NP_001172087.1	Q13007	IL24_HUMAN			4	537	+	Breast(84;0.201)		87					Q2YHE5|Q53XZ7|Q5YLN8|Q96DB0|Q96KG4	Missense_Mutation	SNP	ENST00000294984.2	37	c.263C>T	CCDS1471.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	8.086|8.086	0.773359|0.773359	0.16051|0.16051	2.27E-4|2.27E-4	0.0|0.0	ENSG00000162892|ENSG00000162892	ENST00000480741|ENST00000391929;ENST00000294984;ENST00000367093	.|T;T;T	.|0.18657	.|2.2;2.2;2.2	4.3|4.3	0.365|0.365	0.16131|0.16131	.|Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	.|0.515737	.|0.20794	.|N	.|0.085568	.|T	.|0.11537	.|0.0281	.|.	.|.	.|.	0.09310|0.09310	N|N	1|1	.|B;B;B	.|0.30741	.|0.223;0.293;0.103	.|B;B;B	.|0.24701	.|0.055;0.027;0.027	.|T	.|0.17992	.|-1.0351	.|9	0.87932|0.36615	D|T	0|0.2	.|.	5.8157|5.8157	0.18492|0.18492	0.0:0.5824:0.146:0.2716|0.0:0.5824:0.146:0.2716	.|.	.|88;88;87	.|Q2YHE5;Q53XZ7;Q13007	.|.;.;IL24_HUMAN	X|M	22|88;87;88	.|ENSP00000375795:T88M;ENSP00000294984:T87M;ENSP00000356060:T88M	ENSP00000356062:R22X|ENSP00000294984:T87M	R|T	+|+	1|2	2|0	IL24|IL24	205140282|205140282	0.071000|0.071000	0.21146|0.21146	0.001000|0.001000	0.08648|0.08648	0.001000|0.001000	0.01503|0.01503	0.544000|0.544000	0.23253|0.23253	-0.359000|-0.359000	0.08150|0.08150	-1.268000|-1.268000	0.01426|0.01426	CGA|ACG		0.542	IL24-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000088680.2	NM_006850		24	39	0	0	0	1	0	24	39					T	207073659	C	T	207073659	3	4	435	1	0	0	0	0	1	0	0	0	7677	537	19	1	273	1	IL24	1	207073659	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	101360	207073659	42176962	826	21751											
PIGR	5284	broad.mit.edu	37	chr1	207106341	207106341	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ccttccttacctgccggaatCcacagatgctctgctcccat	7	11	6	17	1	1	1	0	0	1	1	4	2	4	2	6	1	4	2	6	1	2	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:207106341C>T	ENST00000356495.4	-	7	2059	c.1876G>A	c.(1876-1878)Gat>Aat	p.D626N	PIGR_ENST00000487208.1_5'Flank	NM_002644.3	NP_002635.2	P01833	PIGR_HUMAN	polymeric immunoglobulin receptor	626					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc receptor signaling pathway (GO:0038093)|immunoglobulin transcytosis in epithelial cells mediated by polymeric immunoglobulin receptor (GO:0002415)|receptor clustering (GO:0043113)|retina homeostasis (GO:0001895)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	polymeric immunoglobulin receptor activity (GO:0001792)			central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						CTGCCGGAATCCACAGATGCT	0.562																																						ENST00000356495.4																			0				central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						c.(1876-1878)Gat>Aat		polymeric immunoglobulin receptor							121	117	118					1																	207106341		2203	4300	6503	SO:0001583	missense	5284					extracellular region|integral to plasma membrane	protein binding	g.chr1:207106341C>T		CCDS1474.1	1q31-q41	2013-01-11			ENSG00000162896	ENSG00000162896		"Immunoglobulin superfamily / V-set domain containing"	8968	protein-coding gene	gene with protein product		173880					Standard	NM_002644		Approved		uc001hez.3	P01833	OTTHUMG00000036581	ENST00000356495.4:c.1876G>A	1.37:g.207106341C>T	ENSP00000348888:p.Asp626Asn						p.D626N	NM_002644.3	NP_002635.2	P01833	PIGR_HUMAN			7	2059	-			626					Q68D81|Q8IZY7	Missense_Mutation	SNP	ENST00000356495.4	37	c.1876G>A	CCDS1474.1	.	.	.	.	.	.	.	.	.	.	C	8.306	0.820934	0.16678	.	.	ENSG00000162896	ENST00000356495	T	0.15603	2.41	4.26	1.23	0.21249	.	0.705821	0.13631	N	0.373756	T	0.11153	0.0272	L	0.34521	1.04	0.09310	N	1	B	0.18461	0.028	B	0.15052	0.012	T	0.25813	-1.0121	10	0.42905	T	0.14	-13.331	4.5539	0.12128	0.0:0.6141:0.1821:0.2038	.	626	P01833	PIGR_HUMAN	N	626	ENSP00000348888:D626N	ENSP00000348888:D626N	D	-	1	0	PIGR	205172964	0.001000	0.12720	0.000000	0.03702	0.028000	0.11728	0.014000	0.13333	0.298000	0.22638	0.561000	0.74099	GAT		0.562	PIGR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088975.1	NM_002644		13	53	0	0	0	1	0	13	53					T	207106341	C	T	207106341	3	4	435	1	0	0	0	0	1	0	0	0	11897	855	30	3	438	3	PIGR	1	207106341	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	32682	207106341	42144280	827	21752											
FCAMR	83953	broad.mit.edu	37	chr1	207135710	207135710	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtgagggccacacggtcaCgatagcgatggtgagtatac	10	8	14	9	3	1	2	1	2	0	0	1	4	1	2	1	3	2	1	1	3	3	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:207135710C>T	ENST00000324852.4	-	5	974	c.500G>A	c.(499-501)cGt>cAt	p.R167H	FCAMR_ENST00000486178.1_5'Flank|FCAMR_ENST00000400962.3_Missense_Mutation_p.R167H|FCAMR_ENST00000450945.2_Missense_Mutation_p.R167H	NM_001170631.1	NP_001164102.1	Q8WWV6	FCAMR_HUMAN	Fc receptor, IgA, IgM, high affinity	122	Ig-like V-type.				immune system process (GO:0002376)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|skin(1)|stomach(1)	11						CACACGGTCACGATAGCGATG	0.567																																					Ovarian(199;1883 2142 16966 44409 45154)	ENST00000324852.4																			0				endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|skin(1)|stomach(1)	11						c.(499-501)cGt>cAt		Fc receptor, IgA, IgM, high affinity							106	98	100					1																	207135710		1568	3582	5150	SO:0001583	missense	83953					integral to membrane|plasma membrane	receptor activity	g.chr1:207135710C>T	AF354295	CCDS41460.1, CCDS53468.1	1q32.1	2013-01-14			ENSG00000162897	ENSG00000162897		"CD molecules", "Immunoglobulin superfamily / V-set domain containing"	24692	protein-coding gene	gene with protein product		605484				11779189	Standard	NM_001122979		Approved	FKSG87, FCA/MR, CD351	uc001hfa.4	Q8WWV6	OTTHUMG00000036579	ENST00000324852.4:c.500G>A	1.37:g.207135710C>T	ENSP00000316491:p.Arg167His					FCAMR_ENST00000400962.3_Missense_Mutation_p.R167H|FCAMR_ENST00000450945.2_Missense_Mutation_p.R167H	p.R167H	NM_001170631.1	NP_001164102.1	Q8WWV6	FCAMR_HUMAN			5	974	-			122			Ig-like V-type.		Q32M82|Q8WWV5|Q96SA2	Missense_Mutation	SNP	ENST00000324852.4	37	c.500G>A	CCDS53468.1	.	.	.	.	.	.	.	.	.	.	C	7.171	0.587682	0.13812	.	.	ENSG00000162897	ENST00000400962;ENST00000324852;ENST00000450945;ENST00000367087	T;T;T	0.66280	-0.2;-0.2;-0.2	5.6	-8.6	0.00889	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	1.446270	0.03968	N	0.291102	T	0.46908	0.1417	L	0.31120	0.905	0.09310	N	1	B;P;B;B	0.34757	0.023;0.467;0.205;0.078	B;B;B;B	0.34590	0.007;0.186;0.098;0.023	T	0.49986	-0.8880	10	0.45353	T	0.12	3.9145	11.208	0.48782	0.0999:0.1212:0.0:0.7789	.	122;142;122;122	Q8WWV6-4;D2KTA8;Q8WWV6-2;Q8WWV6	.;.;.;FCAMR_HUMAN	H	167;167;167;143	ENSP00000383746:R167H;ENSP00000316491:R167H;ENSP00000392707:R167H	ENSP00000316491:R167H	R	-	2	0	FCAMR	205202333	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-1.129000	0.03244	-1.812000	0.01227	-0.302000	0.09304	CGT		0.567	FCAMR-002	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088969.2	NM_032029		6	26	0	0	0	1	0	6	26					T	207135710	C	T	207135710	3	4	435	1	0	0	0	0	1	0	0	0	5772	536	19	1	1249	1	FCAMR	1	207135710	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	29369	207135710	42114911	828	21753											
CR2	1380	broad.mit.edu	37	chr1	207640140	207640140	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggctctacaccctacagaCatggtgattctgtgacattt	10	12	9	10	0	2	3	0	2	2	1	2	4	2	3	1	2	2	1	1	2	2	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:207640140C>T	ENST00000367058.3	+	2	517	c.328C>T	c.(328-330)Cat>Tat	p.H110Y	CR2_ENST00000367057.3_Missense_Mutation_p.H110Y|CR2_ENST00000458541.2_Missense_Mutation_p.H110Y|CR2_ENST00000367059.3_Missense_Mutation_p.H110Y	NM_001877.4	NP_001868.2	P20023	CR2_HUMAN	complement component (3d/Epstein Barr virus) receptor 2	110	Sushi 2. {ECO:0000255|PROSITE- ProRule:PRU00302}.				B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|complement activation, classical pathway (GO:0006958)|immune response (GO:0006955)|innate immune response (GO:0045087)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	complement binding (GO:0001848)|complement receptor activity (GO:0004875)|DNA binding (GO:0003677)|protein homodimerization activity (GO:0042803)|transmembrane signaling receptor activity (GO:0004888)			NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1)	69						ACCCTACAGACATGGTGATTC	0.418																																						ENST00000367057.3																			0				NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1)	69						c.(328-330)Cat>Tat		complement component (3d/Epstein Barr virus) receptor 2							105	101	102					1																	207640140		2203	4300	6503	SO:0001583	missense	1380				complement activation, classical pathway|innate immune response	integral to membrane|plasma membrane	complement receptor activity|protein homodimerization activity	g.chr1:207640140C>T	M26004	CCDS1478.1, CCDS31007.1	1q32	2014-09-17			ENSG00000117322	ENSG00000117322		"CD molecules", "Complement system"	2336	protein-coding gene	gene with protein product		120650					Standard	NM_001006658		Approved	CD21	uc001hfv.3	P20023	OTTHUMG00000036307	ENST00000367058.3:c.328C>T	1.37:g.207640140C>T	ENSP00000356025:p.His110Tyr					CR2_ENST00000367059.3_Missense_Mutation_p.H110Y|CR2_ENST00000367058.3_Missense_Mutation_p.H110Y|CR2_ENST00000458541.2_Missense_Mutation_p.H110Y	p.H110Y	NM_001006658.2	NP_001006659.1	P20023	CR2_HUMAN			2	517	+			110			Sushi 2.		C9JHD2|Q13866|Q14212|Q53EL2|Q5BKT9|Q5SR46|Q5SR48	Missense_Mutation	SNP	ENST00000367058.3	37	c.328C>T	CCDS1478.1	.	.	.	.	.	.	.	.	.	.	C	11.82	1.752571	0.31046	.	.	ENSG00000117322	ENST00000367058;ENST00000367057;ENST00000367059;ENST00000458541	T;T;T;T	0.62232	0.04;0.04;0.04;0.04	5.0	5.0	0.66597	Complement control module (2);Sushi/SCR/CCP (3);	.	.	.	.	T	0.46249	0.1383	N	0.16743	0.435	0.36766	D	0.883538	P;B;B	0.40909	0.732;0.441;0.34	B;B;B	0.44163	0.443;0.386;0.197	T	0.48980	-0.8986	9	0.02654	T	1	.	13.6796	0.62476	0.0:1.0:0.0:0.0	.	110;110;110	Q5SR47;P20023;P20023-3	.;CR2_HUMAN;.	Y	110	ENSP00000356025:H110Y;ENSP00000356024:H110Y;ENSP00000356026:H110Y;ENSP00000404222:H110Y	ENSP00000356024:H110Y	H	+	1	0	CR2	205706763	0.901000	0.30685	0.937000	0.37676	0.028000	0.11728	1.882000	0.39648	2.607000	0.88179	0.655000	0.94253	CAT		0.418	CR2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000088274.1	NM_001877		11	40	0	0	0	1	0	11	40					T	207640140	C	T	207640140	3	4	435	1	0	0	0	0	1	0	0	0	3842	478	17	3	334	3	CR2	1	207640140	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	504430	207640140	41610481	829	21754											
PLXNA2	5362	broad.mit.edu	37	chr1	208215586	208215586	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagccacgttgccccggtcGcgcatggagaaactgcgctg	8	6	14	13	5	0	1	0	0	0	1	1	3	0	1	3	2	4	3	3	2	2	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:208215586G>A	ENST00000367033.3	-	22	4900	c.4143C>T	c.(4141-4143)cgC>cgT	p.R1381R		NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN	plexin A2	1381					axon guidance (GO:0007411)|centrosome localization (GO:0051642)|cerebellar granule cell precursor tangential migration (GO:0021935)|limb bud formation (GO:0060174)|neural tube development (GO:0021915)|pharyngeal system development (GO:0060037)|regulation of cell migration (GO:0030334)|semaphorin-plexin signaling pathway (GO:0071526)|somitogenesis (GO:0001756)	integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80				OV - Ovarian serous cystadenocarcinoma(81;0.199)		TGCCCCGGTCGCGCATGGAGA	0.587																																						ENST00000367033.3																			0				NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80						c.(4141-4143)cgC>cgT		plexin A2							97	95	95					1																	208215586		2203	4300	6503	SO:0001819	synonymous_variant	5362				axon guidance	integral to membrane|intracellular|plasma membrane		g.chr1:208215586G>A	X87831	CCDS31013.1	1q32.2	2008-07-18			ENSG00000076356	ENSG00000076356		"Plexins"	9100	protein-coding gene	gene with protein product	"plexin 2", "plexin-A2", "semaphorin receptor OCT", "transmembrane protein OCT"	601054		PLXN2		8570614	Standard	NM_025179		Approved	OCT, FLJ11751, FLJ30634, KIAA0463	uc001hgz.3	O75051	OTTHUMG00000036564	ENST00000367033.3:c.4143C>T	1.37:g.208215586G>A							p.R1381R	NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.199)	22	4900	-			1381					A2RTX9|B2RMX7|Q6UX61|Q96GN9|Q9BRL1|Q9UIW1	Silent	SNP	ENST00000367033.3	37	c.4143C>T	CCDS31013.1																																																																																				0.587	PLXNA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088932.6	NM_025179		18	14	0	0	0	1	0	18	14					A	208215586	G	A	208215586	2	1	435	1	0	0	0	0	0	0	0	1	12120	1074	38	1		1	PLXNA2	1	208215586	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	575446	208215586	41035035	830	21755											
PLXNA2	5362	broad.mit.edu	37	chr1	208216471	208216471	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gactcgcatagcgtaggtacGatagtccaggtaagggattc	11	9	13	8	3	0	0	0	0	0	0	3	3	1	1	1	3	2	4	1	3	5	6	rs371220095		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:208216471G>A	ENST00000367033.3	-	21	4709	c.3952C>T	c.(3952-3954)Cgt>Tgt	p.R1318C		NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN	plexin A2	1318					axon guidance (GO:0007411)|centrosome localization (GO:0051642)|cerebellar granule cell precursor tangential migration (GO:0021935)|limb bud formation (GO:0060174)|neural tube development (GO:0021915)|pharyngeal system development (GO:0060037)|regulation of cell migration (GO:0030334)|semaphorin-plexin signaling pathway (GO:0071526)|somitogenesis (GO:0001756)	integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80				OV - Ovarian serous cystadenocarcinoma(81;0.199)		GCGTAGGTACGATAGTCCAGG	0.582																																						ENST00000367033.3																			0				NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80						c.(3952-3954)Cgt>Tgt		plexin A2		G	CYS/ARG	0,4406		0,0,2203	96	89	91		3952	4.5	1	1		91	1,8599	1.2+/-3.3	0,1,4299	no	missense	PLXNA2	NM_025179.3	180	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	1318/1895	208216471	1,13005	2203	4300	6503	SO:0001583	missense	5362				axon guidance	integral to membrane|intracellular|plasma membrane		g.chr1:208216471G>A	X87831	CCDS31013.1	1q32.2	2008-07-18			ENSG00000076356	ENSG00000076356		"Plexins"	9100	protein-coding gene	gene with protein product	"plexin 2", "plexin-A2", "semaphorin receptor OCT", "transmembrane protein OCT"	601054		PLXN2		8570614	Standard	NM_025179		Approved	OCT, FLJ11751, FLJ30634, KIAA0463	uc001hgz.3	O75051	OTTHUMG00000036564	ENST00000367033.3:c.3952C>T	1.37:g.208216471G>A	ENSP00000356000:p.Arg1318Cys						p.R1318C	NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.199)	21	4709	-			1318					A2RTX9|B2RMX7|Q6UX61|Q96GN9|Q9BRL1|Q9UIW1	Missense_Mutation	SNP	ENST00000367033.3	37	c.3952C>T	CCDS31013.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.333592	0.81801	0.0	1.16E-4	ENSG00000076356	ENST00000367033	T	0.13196	2.61	5.42	4.5	0.54988	Plexin, cytoplasmic RasGAP domain (1);	0.000000	0.85682	D	0.000000	T	0.43344	0.1243	M	0.87682	2.9	0.80722	D	1	D	0.89917	1.0	D	0.75484	0.986	T	0.54077	-0.8347	10	0.87932	D	0	.	15.547	0.76112	0.0:0.0:0.8609:0.1391	.	1318	O75051	PLXA2_HUMAN	C	1318	ENSP00000356000:R1318C	ENSP00000356000:R1318C	R	-	1	0	PLXNA2	206283094	1.000000	0.71417	0.984000	0.44739	0.995000	0.86356	4.877000	0.63086	1.271000	0.44313	0.650000	0.86243	CGT		0.582	PLXNA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088932.6	NM_025179		12	17	0	0	0	1	0	12	17					A	208216471	G	A	208216471	3	1	435	1	0	0	0	0	1	0	0	0	12120	1058	37	2	1780	2	PLXNA2	1	208216471	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	885	208216471	41034150	831	21756											
CAMK1G	57172	broad.mit.edu	37	chr1	209785232	209785232	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagaggtggagaacaggccGcctgaaactcaagcctcaga	13	4	12	12	1	2	4	2	1	0	3	2	5	2	4	4	3	3	0	4	3	3	0	rs142610896	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:209785232G>A	ENST00000009105.1	+	11	1256	c.1011G>A	c.(1009-1011)ccG>ccA	p.P337P	CAMK1G_ENST00000494990.1_3'UTR|CAMK1G_ENST00000361322.2_Silent_p.P337P			Q96NX5	KCC1G_HUMAN	calcium/calmodulin-dependent protein kinase IG	337						calcium- and calmodulin-dependent protein kinase complex (GO:0005954)|Golgi apparatus (GO:0005794)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)			breast(2)|central_nervous_system(1)|large_intestine(8)|lung(8)|stomach(1)	20				OV - Ovarian serous cystadenocarcinoma(81;0.0475)		AGAACAGGCCGCCTGAAACTC	0.597																																					Ovarian(163;530 1939 9680 28669 48710)	ENST00000009105.1																			0				breast(2)|central_nervous_system(1)|large_intestine(8)|lung(8)|stomach(1)	20						c.(1009-1011)ccG>ccA		calcium/calmodulin-dependent protein kinase IG		G		1,4405	2.1+/-5.4	0,1,2202	80	89	86		1011	-10.9	0	1	dbSNP_134	86	0,8600		0,0,4300	no	coding-synonymous	CAMK1G	NM_020439.2		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		337/477	209785232	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	57172					Golgi membrane|plasma membrane	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity	g.chr1:209785232G>A		CCDS1486.1	1q32.2	2012-09-20			ENSG00000008118	ENSG00000008118			14585	protein-coding gene	gene with protein product		614994				12637513	Standard	NM_020439		Approved	VWS1, CLICKIII, dJ272L16.1	uc001hhd.3	Q96NX5	OTTHUMG00000036361	ENST00000009105.1:c.1011G>A	1.37:g.209785232G>A						CAMK1G_ENST00000361322.2_Silent_p.P337P|CAMK1G_ENST00000494990.1_3'UTR	p.P337P			Q96NX5	KCC1G_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0475)	11	1256	+			337					Q86UH5|Q9Y3J7	Silent	SNP	ENST00000009105.1	37	c.1011G>A	CCDS1486.1																																																																																				0.597	CAMK1G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088526.1	NM_020439		19	32	0	0	0	1	0	19	32					A	209785232	G	A	209785232	2	1	435	1	0	0	0	0	0	0	0	1	2598	1074	38	1		1	CAMK1G	1	209785232	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	1568761	209785232	39465389	832	21757											
C1orf107	27042	broad.mit.edu	37	chr1	210024741	210024741	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtgtggagcgggcggcacaGatgctacagtccaacaagaa	12	5	15	9	2	0	2	0	0	0	2	1	3	1	3	1	4	4	2	1	4	4	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:210024741G>T	ENST00000491415.2	+	12	2277	c.2220G>T	c.(2218-2220)caG>caT	p.Q740H		NM_014388.6	NP_055203.4	Q68CQ4	DIEXF_HUMAN	digestive organ expansion factor homolog (zebrafish)	740					multicellular organismal development (GO:0007275)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(6)|central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(15)|large_intestine(7)|lung(12)|ovary(1)|skin(3)|stomach(1)|urinary_tract(2)	53						GGGCGGCACAGATGCTACAGT	0.478																																						ENST00000491415.2																			0				breast(6)|central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(15)|large_intestine(7)|lung(12)|ovary(1)|skin(3)|stomach(1)|urinary_tract(2)	53						c.(2218-2220)caG>caT		digestive organ expansion factor homolog (zebrafish)							108	91	97					1																	210024741		2203	4300	6503	SO:0001583	missense	27042				multicellular organismal development	nucleus		g.chr1:210024741G>T	BC022964	CCDS1493.1	1q32.2	2011-08-12	2011-02-16	2011-02-16	ENSG00000117597	ENSG00000117597			28440	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 107"	C1orf107		16322560	Standard	NM_014388		Approved	MGC29875, DEF, UTP25	uc001hhr.2	Q68CQ4	OTTHUMG00000036654	ENST00000491415.2:c.2220G>T	1.37:g.210024741G>T	ENSP00000419005:p.Gln740His						p.Q740H	NM_014388.6	NP_055203.4	Q68CQ4	DIEXF_HUMAN			12	2277	+			740					O75992|Q4VY00|Q63HL9	Missense_Mutation	SNP	ENST00000491415.2	37	c.2220G>T	CCDS1493.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.068517	0.76301	.	.	ENSG00000117597	ENST00000491415	T	0.46063	0.88	5.95	5.04	0.67666	.	0.000000	0.85682	D	0.000000	T	0.40546	0.1121	L	0.31420	0.93	0.58432	D	0.999996	P	0.46784	0.884	P	0.52646	0.705	T	0.08659	-1.0711	10	0.40728	T	0.16	-22.1729	9.1133	0.36741	0.1586:0.0:0.8414:0.0	.	740	Q68CQ4	DIEXF_HUMAN	H	740	ENSP00000419005:Q740H	ENSP00000419005:Q740H	Q	+	3	2	DIEXF	208091364	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	3.578000	0.53892	2.824000	0.97209	0.655000	0.94253	CAG		0.478	DIEXF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089127.2	NM_014388		21	31	1	0	7.4402e-23	1	8.28189e-23	21	31					T	210024741	G	T	210024741	3	4	435	1	0	0	0	0	1	0	0	0	1981	933	33	5	2266	5	C1orf107	1	210024741	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	239509	210024741	39225880	833	21758											
SYT14	255928	broad.mit.edu	37	chr1	210267703	210267703	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatgagaagaacacccccgcTggatgaattgcagccaccac	14	5	9	13	1	0	3	0	2	0	2	0	5	0	4	4	1	3	2	4	1	4	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:210267703T>C	ENST00000472886.1	+	5	493	c.479T>C	c.(478-480)cTg>cCg	p.L160P	SYT14_ENST00000367015.1_Missense_Mutation_p.L122P|SYT14_ENST00000422431.1_Missense_Mutation_p.L205P|SYT14_ENST00000271745.7_3'UTR|SYT14_ENST00000367019.1_Missense_Mutation_p.L160P|SYT14_ENST00000537238.1_Missense_Mutation_p.L122P|SYT14_ENST00000534859.1_Missense_Mutation_p.L160P|SYT14_ENST00000399639.2_Missense_Mutation_p.L160P			Q8NB59	SYT14_HUMAN	synaptotagmin XIV	160					cell death (GO:0008219)	integral component of membrane (GO:0016021)	phospholipid binding (GO:0005543)			endometrium(4)|large_intestine(11)|lung(17)|ovary(1)|prostate(1)|skin(3)	37				OV - Ovarian serous cystadenocarcinoma(81;0.085)		ACACCCCCGCTGGATGAATTG	0.438																																						ENST00000537238.1																			0				endometrium(4)|large_intestine(11)|lung(17)|ovary(1)|prostate(1)|skin(3)	37						c.(364-366)cTg>cCg		synaptotagmin XIV							80	82	81					1																	210267703		2203	4300	6503	SO:0001583	missense	255928					integral to membrane		g.chr1:210267703T>C	AK091517	CCDS31014.1, CCDS53470.1, CCDS58058.1	1q32.2	2013-01-21			ENSG00000143469	ENSG00000143469		"Synaptotagmins"	23143	protein-coding gene	gene with protein product		610949					Standard	NM_001256006		Approved	sytXIV, FLJ34198	uc001hhs.5	Q8NB59	OTTHUMG00000036652	ENST00000472886.1:c.479T>C	1.37:g.210267703T>C	ENSP00000418901:p.Leu160Pro					SYT14_ENST00000422431.1_Missense_Mutation_p.L205P|SYT14_ENST00000534859.1_Missense_Mutation_p.L160P|SYT14_ENST00000472886.1_Missense_Mutation_p.L160P|SYT14_ENST00000399639.2_Missense_Mutation_p.L160P|SYT14_ENST00000367015.1_Missense_Mutation_p.L122P|SYT14_ENST00000271745.7_3'UTR|SYT14_ENST00000367019.1_Missense_Mutation_p.L160P	p.L122P	NM_001256006.1|NM_153262.3	NP_001242935.1|NP_694994.2	Q8NB59	SYT14_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.085)	6	756	+			160					B1AJU0|B1AJU1|F5H426|Q5THX7|Q707N3|Q707N4|Q707N5|Q707N6|Q707N7	Missense_Mutation	SNP	ENST00000472886.1	37	c.365T>C	CCDS31014.1	.	.	.	.	.	.	.	.	.	.	T	22.2	4.252019	0.80135	.	.	ENSG00000143469	ENST00000422431;ENST00000534859;ENST00000399639;ENST00000537238;ENST00000367019;ENST00000472886;ENST00000367015	T;T;T;T;T;T;T	0.20881	3.2;3.06;2.04;3.33;3.07;3.32;3.33	5.62	5.62	0.85841	.	0.357610	0.25241	N	0.032085	T	0.35740	0.0942	M	0.61703	1.905	0.80722	D	1	B;B;D;B	0.55385	0.021;0.006;0.971;0.063	B;B;P;B	0.55391	0.007;0.005;0.775;0.026	T	0.04454	-1.0950	10	0.23891	T	0.37	-6.3896	14.3668	0.66810	0.0:0.0:0.0:1.0	.	188;160;160;205	A1L3Y1;Q8NB59;Q8NB59-6;F5H426	.;SYT14_HUMAN;.;.	P	205;160;160;122;160;160;122	ENSP00000389039:L205P;ENSP00000442891:L160P;ENSP00000445837:L160P;ENSP00000437423:L122P;ENSP00000355986:L160P;ENSP00000418901:L160P;ENSP00000355982:L122P	ENSP00000355982:L122P	L	+	2	0	SYT14	208334326	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.516000	0.81772	2.140000	0.66376	0.482000	0.46254	CTG		0.438	SYT14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089124.1	NM_153262		25	27	0	0	0	1	0	25	27					C	210267703	T	C	210267703	3	2	435	1	0	0	0	0	1	0	0	0	15467	1580	55	4	636	4	SYT14	1	210267703	Missense_Mutation	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	242962	210267703	38982918	834	21759											
SERTAD4	56256	broad.mit.edu	37	chr1	210415061	210415061	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atcatgcagaataactggtgCttccctgcctgctctttcaa	9	13	7	12	0	3	1	2	0	1	1	4	1	4	1	2	1	5	3	2	1	3	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:210415061C>T	ENST00000367012.3	+	4	680	c.450C>T	c.(448-450)tgC>tgT	p.C150C	SERTAD4_ENST00000490620.1_3'UTR	NM_019605.3	NP_062551.1	Q9NUC0	SRTD4_HUMAN	SERTA domain containing 4	150						nucleus (GO:0005634)				endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(81;0.0237)|all cancers(67;0.127)		ATAACTGGTGCTTCCCTGCCT	0.453																																						ENST00000367012.3																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	14						c.(448-450)tgC>tgT		SERTA domain containing 4							128	131	130					1																	210415061		2203	4300	6503	SO:0001819	synonymous_variant	56256						protein binding	g.chr1:210415061C>T	BC012083	CCDS1494.1	1q32.1-q41	2008-02-05			ENSG00000082497	ENSG00000082497			25236	protein-coding gene	gene with protein product						12477932	Standard	NM_019605		Approved	DJ667H12.2	uc001hhy.3	Q9NUC0	OTTHUMG00000036391	ENST00000367012.3:c.450C>T	1.37:g.210415061C>T						SERTAD4_ENST00000490620.1_3'UTR	p.C150C	NM_019605.3	NP_062551.1	Q9NUC0	SRTD4_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0237)|all cancers(67;0.127)	4	680	+			150					B2RD32	Silent	SNP	ENST00000367012.3	37	c.450C>T	CCDS1494.1																																																																																				0.453	SERTAD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088577.1	NM_019605		34	51	0	0	0	1	0	34	51					T	210415061	C	T	210415061	2	4	435	1	0	0	0	0	0	0	0	1	14123	805	28	3		3	SERTAD4	1	210415061	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	147358	210415061	38835560	835	21760											
HHAT	55733	broad.mit.edu	37	chr1	210591653	210591653	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atccccctcctggagactgtCtcttgttggaccttaggtaa	7	13	9	12	0	1	1	0	0	1	1	4	3	3	2	4	3	0	2	4	3	2	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:210591653C>T	ENST00000367010.1	+	7	1067	c.840C>T	c.(838-840)gtC>gtT	p.V280V	HHAT_ENST00000537898.1_Silent_p.V215V|HHAT_ENST00000261458.3_Silent_p.V280V|HHAT_ENST00000541565.1_Silent_p.V143V|HHAT_ENST00000545154.1_Silent_p.V281V|HHAT_ENST00000545781.1_Silent_p.V217V|HHAT_ENST00000391905.3_Silent_p.V280V|HHAT_ENST00000308852.6_Silent_p.V235V|HHAT_ENST00000413764.2_Silent_p.V280V	NM_001170580.1	NP_001164051.1	Q5VTY9	HHAT_HUMAN	hedgehog acyltransferase	280					multicellular organismal development (GO:0007275)|protein palmitoylation (GO:0018345)|smoothened signaling pathway (GO:0007224)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	GTP binding (GO:0005525)|palmitoyltransferase activity (GO:0016409)			breast(3)|central_nervous_system(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	27				OV - Ovarian serous cystadenocarcinoma(81;0.0136)|all cancers(67;0.161)|KIRC - Kidney renal clear cell carcinoma(1967;0.215)		TGGAGACTGTCTCTTGTTGGA	0.562																																						ENST00000367010.1																			0				breast(3)|central_nervous_system(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	27						c.(838-840)gtC>gtT		hedgehog acyltransferase							90	84	86					1																	210591653		2203	4300	6503	SO:0001819	synonymous_variant	55733				multicellular organismal development	endoplasmic reticulum membrane|integral to membrane	GTP binding	g.chr1:210591653C>T	AK001586	CCDS1495.1, CCDS53471.1, CCDS53472.1, CCDS53473.1	1q32	2008-02-05			ENSG00000054392	ENSG00000054392			18270	protein-coding gene	gene with protein product		605743				11160356	Standard	NM_001170587		Approved	FLJ10724, MART-2, MART2, Skn, ski, rasp, sit, GUP2	uc009xcx.3	Q5VTY9	OTTHUMG00000036447	ENST00000367010.1:c.840C>T	1.37:g.210591653C>T						HHAT_ENST00000537898.1_Silent_p.V215V|HHAT_ENST00000308852.6_Silent_p.V235V|HHAT_ENST00000545781.1_Silent_p.V217V|HHAT_ENST00000545154.1_Silent_p.V281V|HHAT_ENST00000541565.1_Silent_p.V143V|HHAT_ENST00000391905.3_Silent_p.V280V|HHAT_ENST00000413764.2_Silent_p.V280V|HHAT_ENST00000261458.3_Silent_p.V280V	p.V280V	NM_001170580.1	NP_001164051.1	Q5VTY9	HHAT_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0136)|all cancers(67;0.161)|KIRC - Kidney renal clear cell carcinoma(1967;0.215)	7	1067	+			280					B7Z4D5|B7Z5I1|B7Z868|B7ZA75|D3DT91|F5H444|Q17RZ7|Q4G0K3|Q5CZ95|Q5TGI2|Q9NVH9|Q9Y3N8	Silent	SNP	ENST00000367010.1	37	c.840C>T	CCDS1495.1																																																																																				0.562	HHAT-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088662.1	NM_018194		4	36	0	0	0	1	0	4	36					T	210591653	C	T	210591653	2	4	435	1	0	0	0	0	0	0	0	1	7089	900	32	3		3	HHAT	1	210591653	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	176592	210591653	38658968	836	21761											
HHAT	55733	broad.mit.edu	37	chr1	210847634	210847634	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgtcctccctctgcaggctgGccttgggtgaccctctctgt	2	13	11	15	0	2	1	0	1	2	0	5	1	4	1	4	3	1	2	4	3	0	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:210847634G>A	ENST00000367010.1	+	12	1622	c.1395G>A	c.(1393-1395)tgG>tgA	p.W465*	HHAT_ENST00000537898.1_Nonsense_Mutation_p.W400*|HHAT_ENST00000367009.1_Nonsense_Mutation_p.W155*|HHAT_ENST00000261458.3_Nonsense_Mutation_p.W465*|HHAT_ENST00000541565.1_Nonsense_Mutation_p.W328*|HHAT_ENST00000545154.1_Nonsense_Mutation_p.W466*|HHAT_ENST00000545781.1_Nonsense_Mutation_p.W402*|HHAT_ENST00000308852.6_Nonsense_Mutation_p.W420*|HHAT_ENST00000413764.2_Nonsense_Mutation_p.W465*	NM_001170580.1	NP_001164051.1	Q5VTY9	HHAT_HUMAN	hedgehog acyltransferase	465					multicellular organismal development (GO:0007275)|protein palmitoylation (GO:0018345)|smoothened signaling pathway (GO:0007224)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	GTP binding (GO:0005525)|palmitoyltransferase activity (GO:0016409)			breast(3)|central_nervous_system(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	27				OV - Ovarian serous cystadenocarcinoma(81;0.0136)|all cancers(67;0.161)|KIRC - Kidney renal clear cell carcinoma(1967;0.215)		CTGCAGGCTGGCCTTGGGTGA	0.587																																						ENST00000367010.1																			0				breast(3)|central_nervous_system(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	27						c.(1393-1395)tgG>tgA		hedgehog acyltransferase							136	112	120					1																	210847634		2203	4300	6503	SO:0001587	stop_gained	55733				multicellular organismal development	endoplasmic reticulum membrane|integral to membrane	GTP binding	g.chr1:210847634G>A	AK001586	CCDS1495.1, CCDS53471.1, CCDS53472.1, CCDS53473.1	1q32	2008-02-05			ENSG00000054392	ENSG00000054392			18270	protein-coding gene	gene with protein product		605743				11160356	Standard	NM_001170587		Approved	FLJ10724, MART-2, MART2, Skn, ski, rasp, sit, GUP2	uc009xcx.3	Q5VTY9	OTTHUMG00000036447	ENST00000367010.1:c.1395G>A	1.37:g.210847634G>A	ENSP00000355977:p.Trp465*					HHAT_ENST00000537898.1_Nonsense_Mutation_p.W400*|HHAT_ENST00000367009.1_Nonsense_Mutation_p.W155*|HHAT_ENST00000308852.6_Nonsense_Mutation_p.W420*|HHAT_ENST00000545781.1_Nonsense_Mutation_p.W402*|HHAT_ENST00000545154.1_Nonsense_Mutation_p.W466*|HHAT_ENST00000541565.1_Nonsense_Mutation_p.W328*|HHAT_ENST00000413764.2_Nonsense_Mutation_p.W465*|HHAT_ENST00000261458.3_Nonsense_Mutation_p.W465*	p.W465*	NM_001170580.1	NP_001164051.1	Q5VTY9	HHAT_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0136)|all cancers(67;0.161)|KIRC - Kidney renal clear cell carcinoma(1967;0.215)	12	1622	+			465					B7Z4D5|B7Z5I1|B7Z868|B7ZA75|D3DT91|F5H444|Q17RZ7|Q4G0K3|Q5CZ95|Q5TGI2|Q9NVH9|Q9Y3N8	Nonsense_Mutation	SNP	ENST00000367010.1	37	c.1395G>A	CCDS1495.1	.	.	.	.	.	.	.	.	.	.	G	36	5.951278	0.97139	.	.	ENSG00000054392	ENST00000413764;ENST00000541565;ENST00000545154;ENST00000537898;ENST00000545781;ENST00000261458;ENST00000308852;ENST00000367010;ENST00000367009	.	.	.	5.51	5.51	0.81932	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.22109	T	0.4	.	16.499	0.84253	0.0:0.0:1.0:0.0	.	.	.	.	X	465;328;466;400;402;465;420;465;155	.	ENSP00000261458:W465X	W	+	3	0	HHAT	208914257	1.000000	0.71417	1.000000	0.80357	0.898000	0.52572	4.899000	0.63245	2.736000	0.93811	0.655000	0.94253	TGG		0.587	HHAT-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088662.1	NM_018194		27	23	0	0	0	1	0	27	23					A	210847634	G	A	210847634	4	1	435	1	0	0	0	0	0	1	0	0	7089	1212	42	3	1535	3	HHAT	1	210847634	Nonsense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	255981	210847634	38402987	837	21762											
KCNH1	3756	broad.mit.edu	37	chr1	210857205	210857205	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgcctggaaggatacgggCgtggcaggactctcacgcac	8	6	15	12	3	1	0	1	0	1	0	2	3	1	3	1	5	2	3	1	5	2	1	rs138875472		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:210857205C>T	ENST00000271751.4	-	11	2415	c.2388G>A	c.(2386-2388)acG>acA	p.T796T	KCNH1_ENST00000367007.4_Silent_p.T769T			O95259	KCNH1_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 1	796					myoblast fusion (GO:0007520)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	nucleus (GO:0005634)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|phosphorelay sensor kinase activity (GO:0000155)	p.T796T(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|lung(35)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185)		AGGATACGGGCGTGGCAGGAC	0.667																																						ENST00000367007.4																			1	Substitution - coding silent(1)	p.T796T(1)	large_intestine(1)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|lung(35)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	68						c.(2305-2307)acG>acA		potassium voltage-gated channel, subfamily H (eag-related), member 1		C	,	0,4406		0,0,2203	57	55	56		2307,2388	-1.3	1	1	dbSNP_134	56	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	KCNH1	NM_002238.3,NM_172362.2	,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,	769/963,796/990	210857205	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	3756				myoblast fusion|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	calmodulin binding|delayed rectifier potassium channel activity|two-component sensor activity	g.chr1:210857205C>T	AJ001366	CCDS1496.1, CCDS31015.1	1q32.2	2012-07-05			ENSG00000143473	ENSG00000143473		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6250	protein-coding gene	gene with protein product		603305				9738473, 16382104	Standard	NM_172362		Approved	Kv10.1, eag, h-eag, eag1	uc001hib.2	O95259	OTTHUMG00000036309	ENST00000271751.4:c.2388G>A	1.37:g.210857205C>T						KCNH1_ENST00000271751.4_Silent_p.T796T	p.T769T	NM_002238.3|NM_172362.2	NP_002229.1|NP_758872.1	O95259	KCNH1_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185)	11	2476	-			796			Calmodulin-binding.		B1AQ26|O76035|Q14CL3	Silent	SNP	ENST00000271751.4	37	c.2307G>A	CCDS1496.1																																																																																				0.667	KCNH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088332.1	NM_002238		18	26	0	0	0	1	0	18	26					T	210857205	C	T	210857205	2	4	435	1	0	0	0	0	0	0	0	1	8031	755	27	1		1	KCNH1	1	210857205	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	9571	210857205	38393416	838	21763											
KCNH1	3756	broad.mit.edu	37	chr1	210971047	210971047	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggtgctccttgaacaccttgCggttcaggtgcacgcagatg	7	10	13	11	2	1	2	1	1	0	1	2	2	2	2	2	3	4	4	2	3	1	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:210971047C>T	ENST00000271751.4	-	9	1745	c.1718G>A	c.(1717-1719)cGc>cAc	p.R573H	KCNH1_ENST00000367007.4_Missense_Mutation_p.R546H			O95259	KCNH1_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 1	573					myoblast fusion (GO:0007520)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	nucleus (GO:0005634)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|phosphorelay sensor kinase activity (GO:0000155)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|lung(35)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185)		GAACACCTTGCGGTTCAGGTG	0.617																																						ENST00000367007.4																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|lung(35)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	68						c.(1636-1638)cGc>cAc		potassium voltage-gated channel, subfamily H (eag-related), member 1							62	58	59					1																	210971047		2203	4300	6503	SO:0001583	missense	3756				myoblast fusion|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	calmodulin binding|delayed rectifier potassium channel activity|two-component sensor activity	g.chr1:210971047C>T	AJ001366	CCDS1496.1, CCDS31015.1	1q32.2	2012-07-05			ENSG00000143473	ENSG00000143473		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6250	protein-coding gene	gene with protein product		603305				9738473, 16382104	Standard	NM_172362		Approved	Kv10.1, eag, h-eag, eag1	uc001hib.2	O95259	OTTHUMG00000036309	ENST00000271751.4:c.1718G>A	1.37:g.210971047C>T	ENSP00000271751:p.Arg573His					KCNH1_ENST00000271751.4_Missense_Mutation_p.R573H	p.R546H	NM_002238.3|NM_172362.2	NP_002229.1|NP_758872.1	O95259	KCNH1_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185)	9	1806	-			573					B1AQ26|O76035|Q14CL3	Missense_Mutation	SNP	ENST00000271751.4	37	c.1637G>A	CCDS1496.1	.	.	.	.	.	.	.	.	.	.	C	33	5.269988	0.95429	.	.	ENSG00000143473	ENST00000271751;ENST00000367007	D;D	0.96885	-4.16;-4.16	5.36	5.36	0.76844	Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);	0.050022	0.85682	D	0.000000	D	0.98535	0.9511	M	0.90977	3.165	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.73708	0.981;0.968	D	0.99541	1.0963	10	0.87932	D	0	.	19.0956	0.93249	0.0:1.0:0.0:0.0	.	546;573	Q14CL3;O95259	.;KCNH1_HUMAN	H	573;546	ENSP00000271751:R573H;ENSP00000355974:R546H	ENSP00000271751:R573H	R	-	2	0	KCNH1	209037670	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.531000	0.81973	2.506000	0.84524	0.655000	0.94253	CGC		0.617	KCNH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088332.1	NM_002238		4	35	0	0	0	1	0	4	35					T	210971047	C	T	210971047	3	4	435	1	0	0	0	0	1	0	0	0	8031	768	27	1	1263	1	KCNH1	1	210971047	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	113842	210971047	38279574	839	21764											
INTS7	25896	broad.mit.edu	37	chr1	212115317	212115317	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tcttccatactataccattgGcatctttcacagaagattcc	11	14	4	12	0	3	2	1	0	2	2	5	2	5	2	3	1	2	1	3	1	4	7			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:212115317G>A	ENST00000366994.3	-	20	2842	c.2738C>T	c.(2737-2739)gCc>gTc	p.A913V	INTS7_ENST00000366993.3_Missense_Mutation_p.A899V|INTS7_ENST00000440600.2_Missense_Mutation_p.A864V|INTS7_ENST00000366992.3_Missense_Mutation_p.A893V|INTS7_ENST00000469606.1_5'UTR	NM_001199811.1|NM_001199812.1|NM_015434.3	NP_001186740.1|NP_001186741.1|NP_056249.1	Q9NVH2	INT7_HUMAN	integrator complex subunit 7	913					cellular response to ionizing radiation (GO:0071479)|DNA damage checkpoint (GO:0000077)|snRNA processing (GO:0016180)	chromosome (GO:0005694)|integrator complex (GO:0032039)				NS(1)|breast(1)|kidney(1)|large_intestine(8)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20				OV - Ovarian serous cystadenocarcinoma(81;0.00584)|all cancers(67;0.0318)|Epithelial(68;0.0852)		TATACCATTGGCATCTTTCAC	0.408																																						ENST00000366994.3																			0				NS(1)|breast(1)|kidney(1)|large_intestine(8)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						c.(2737-2739)gCc>gTc		integrator complex subunit 7							165	162	163					1																	212115317		2203	4300	6503	SO:0001583	missense	25896				snRNA processing	integrator complex	protein binding	g.chr1:212115317G>A	AK022509	CCDS1501.1, CCDS55684.1, CCDS55683.1, CCDS55685.1	1q32.3	2008-02-05	2006-03-15	2006-03-15	ENSG00000143493	ENSG00000143493			24484	protein-coding gene	gene with protein product		611350	"chromosome 1 open reading frame 73"	C1orf73		16239144	Standard	NM_015434		Approved	DKFZP434B168, INT7	uc001hiw.2	Q9NVH2	OTTHUMG00000037119	ENST00000366994.3:c.2738C>T	1.37:g.212115317G>A	ENSP00000355961:p.Ala913Val					INTS7_ENST00000469606.1_5'UTR|INTS7_ENST00000366993.3_Missense_Mutation_p.A899V|INTS7_ENST00000366992.3_Missense_Mutation_p.A893V|INTS7_ENST00000440600.2_Missense_Mutation_p.A864V	p.A913V	NM_001199811.1|NM_001199812.1|NM_015434.3	NP_001186740.1|NP_001186741.1|NP_056249.1	Q9NVH2	INT7_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.00584)|all cancers(67;0.0318)|Epithelial(68;0.0852)	20	2842	-			913					B4DLZ6|B7WNP6|B7WPB6|Q8N4K7|Q8WUH5|Q9H9V3|Q9NVU5|Q9UFC6|Q9UFM3	Missense_Mutation	SNP	ENST00000366994.3	37	c.2738C>T	CCDS1501.1	.	.	.	.	.	.	.	.	.	.	G	15.04	2.715955	0.48622	.	.	ENSG00000143493	ENST00000366994;ENST00000366993;ENST00000366992;ENST00000440600	T;T;T;T	0.44083	0.94;0.94;0.93;0.94	5.86	5.86	0.93980	.	0.258279	0.45361	D	0.000365	T	0.28599	0.0708	N	0.14661	0.345	0.32124	N	0.587659	B;B;B;B	0.15473	0.013;0.013;0.013;0.013	B;B;B;B	0.16289	0.015;0.015;0.015;0.015	T	0.23476	-1.0187	10	0.41790	T	0.15	-20.8476	14.344	0.66646	0.0704:0.0:0.9295:0.0	.	864;893;899;913	B4DLZ6;Q9NVH2-3;Q9NVH2-2;Q9NVH2	.;.;.;INT7_HUMAN	V	913;899;893;864	ENSP00000355961:A913V;ENSP00000355960:A899V;ENSP00000355959:A893V;ENSP00000388908:A864V	ENSP00000355959:A893V	A	-	2	0	INTS7	210181940	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.166000	0.50785	2.778000	0.95560	0.655000	0.94253	GCC		0.408	INTS7-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090142.1	NM_015434		29	58	0	0	0	1	0	29	58					A	212115317	G	A	212115317	3	1	435	1	0	0	0	0	1	0	0	0	7783	1203	42	3	154	3	INTS7	1	212115317	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	1144270	212115317	37135304	840	21765											
PPP2R5A	5525	broad.mit.edu	37	chr1	212520718	212520718	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgaaacagaacatttcaatgGtgttgctgaacttcttgaaa	14	13	8	6	0	2	4	1	3	1	1	2	4	2	4	0	1	4	2	0	1	5	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:212520718G>A	ENST00000261461.2	+	6	1308	c.734G>A	c.(733-735)gGt>gAt	p.G245D	PPP2R5A_ENST00000537030.3_Missense_Mutation_p.G188D	NM_006243.3	NP_006234.1	Q15172	2A5A_HUMAN	protein phosphatase 2, regulatory subunit B', alpha	245					negative regulation of establishment of protein localization to plasma membrane (GO:0090005)|negative regulation of lipid kinase activity (GO:0090219)|positive regulation of protein dephosphorylation (GO:0035307)|signal transduction (GO:0007165)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|M band (GO:0031430)|nucleus (GO:0005634)|protein phosphatase type 2A complex (GO:0000159)|Z disc (GO:0030018)	kinase binding (GO:0019900)|protein phosphatase type 2A regulator activity (GO:0008601)			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)	16				OV - Ovarian serous cystadenocarcinoma(81;0.0125)|all cancers(67;0.029)|Epithelial(68;0.154)|GBM - Glioblastoma multiforme(131;0.155)		CATTTCAATGGTGTTGCTGAA	0.294																																						ENST00000261461.2																			0				NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)	16						c.(733-735)gGt>gAt		protein phosphatase 2, regulatory subunit B', alpha							92	93	92					1																	212520718		2202	4300	6502	SO:0001583	missense	5525				negative regulation of establishment of protein localization in plasma membrane|negative regulation of lipid kinase activity|positive regulation of protein dephosphorylation|signal transduction	chromosome, centromeric region|cytoplasm|nucleus|protein phosphatase type 2A complex	kinase binding|protein phosphatase type 2A regulator activity	g.chr1:212520718G>A	BC022474	CCDS1503.1, CCDS55686.1	1q32.2-q32.3	2010-06-18	2010-04-14		ENSG00000066027	ENSG00000066027		"Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"	9309	protein-coding gene	gene with protein product		601643	"protein phosphatase 2, regulatory subunit B (B56), alpha isoform", "protein phosphatase 2, regulatory subunit B', alpha isoform"			7592815	Standard	NM_006243		Approved	PR61A, B56A	uc001hjb.3	Q15172	OTTHUMG00000036750	ENST00000261461.2:c.734G>A	1.37:g.212520718G>A	ENSP00000261461:p.Gly245Asp					PPP2R5A_ENST00000537030.3_Missense_Mutation_p.G188D	p.G245D	NM_006243.3	NP_006234.1	Q15172	2A5A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0125)|all cancers(67;0.029)|Epithelial(68;0.154)|GBM - Glioblastoma multiforme(131;0.155)	6	1308	+			245					B2R6D2|B7Z7L2|D3DT99|Q2NL72|Q5VVB2|Q8TBI9	Missense_Mutation	SNP	ENST00000261461.2	37	c.734G>A	CCDS1503.1	.	.	.	.	.	.	.	.	.	.	G	29.4	5.000365	0.93227	.	.	ENSG00000066027	ENST00000542178;ENST00000261461;ENST00000537030	.	.	.	5.53	5.53	0.82687	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.89448	0.6718	H	0.95780	3.72	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79784	0.993;0.993	D	0.92234	0.5795	9	0.87932	D	0	-14.6459	19.4713	0.94963	0.0:0.0:1.0:0.0	.	188;245	B7Z7L2;Q15172	.;2A5A_HUMAN	D	245;245;188	.	ENSP00000261461:G245D	G	+	2	0	PPP2R5A	210587341	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.238000	0.95380	2.587000	0.87381	0.563000	0.77884	GGT		0.294	PPP2R5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089302.1	NM_006243		7	21	0	0	0	1	0	7	21					A	212520718	G	A	212520718	3	1	435	1	0	0	0	0	1	0	0	0	12392	1261	44	3	756	3	PPP2R5A	1	212520718	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	405401	212520718	36729903	841	21766											
ATF3	467	broad.mit.edu	37	chr1	212788505	212788505	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaaggaagagctgaggtttGccatccagaacaagcacctc	13	7	10	11	0	1	3	1	1	0	2	3	4	2	4	3	2	4	3	3	2	4	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:212788505G>A	ENST00000341491.4	+	2	407	c.142G>A	c.(142-144)Gcc>Acc	p.A48T	ATF3_ENST00000366985.1_5'UTR|ATF3_ENST00000366983.1_Missense_Mutation_p.A48T|ATF3_ENST00000492118.1_Intron|RN7SL512P_ENST00000578962.1_RNA|ATF3_ENST00000336937.4_Missense_Mutation_p.A19T|ATF3_ENST00000366987.2_Missense_Mutation_p.A48T	NM_001040619.2|NM_001206488.2|NM_001674.3	NP_001035709.1|NP_001193417.2|NP_001665.1	P18847	ATF3_HUMAN	activating transcription factor 3	48					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|gluconeogenesis (GO:0006094)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal muscle cell differentiation (GO:0035914)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	identical protein binding (GO:0042802)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)	6				OV - Ovarian serous cystadenocarcinoma(81;0.00628)|all cancers(67;0.0097)|GBM - Glioblastoma multiforme(131;0.0388)|Epithelial(68;0.0933)	Pseudoephedrine(DB00852)	GCTGAGGTTTGCCATCCAGAA	0.572																																						ENST00000341491.4																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)	6						c.(142-144)Gcc>Acc		activating transcription factor 3							105	89	94					1																	212788505		2203	4300	6503	SO:0001583	missense	467					nucleolus	identical protein binding|protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr1:212788505G>A	L19871	CCDS1506.1, CCDS41464.1, CCDS55688.1, CCDS58059.1	1q32.3	2013-01-10			ENSG00000162772	ENSG00000162772		"basic leucine zipper proteins"	785	protein-coding gene	gene with protein product		603148				7515060	Standard	NM_001674		Approved		uc021pit.1	P18847	OTTHUMG00000036747	ENST00000341491.4:c.142G>A	1.37:g.212788505G>A	ENSP00000344352:p.Ala48Thr					ATF3_ENST00000492118.1_Intron|ATF3_ENST00000366985.1_5'UTR|ATF3_ENST00000366983.1_Missense_Mutation_p.A48T|ATF3_ENST00000366987.2_Missense_Mutation_p.A48T|ATF3_ENST00000336937.4_Missense_Mutation_p.A19T	p.A48T	NM_001040619.2|NM_001206488.2|NM_001674.3	NP_001035709.1|NP_001193417.2|NP_001665.1	P18847	ATF3_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.00628)|all cancers(67;0.0097)|GBM - Glioblastoma multiforme(131;0.0388)|Epithelial(68;0.0933)	2	407	+			48					Q5VTZ2|Q6ICQ9|Q7Z566|Q8WYM6	Missense_Mutation	SNP	ENST00000341491.4	37	c.142G>A	CCDS1506.1	.	.	.	.	.	.	.	.	.	.	G	27.2	4.810154	0.90707	.	.	ENSG00000162772	ENST00000366981;ENST00000366987;ENST00000341491;ENST00000366983;ENST00000336937	T;T;T;T;T	0.81247	0.44;0.44;0.44;-0.43;-1.47	6.06	5.15	0.70609	.	0.098369	0.64402	N	0.000001	T	0.70518	0.3233	L	0.32530	0.975	0.58432	D	0.999999	B;B;B	0.32653	0.016;0.379;0.002	B;B;B	0.26517	0.019;0.07;0.003	T	0.68142	-0.5487	10	0.30854	T	0.27	-21.9404	15.2522	0.73556	0.067:0.0:0.933:0.0	.	48;48;48	Q7Z567;Q8WYM6;P18847	.;.;ATF3_HUMAN	T	48;48;48;48;19	ENSP00000355948:A48T;ENSP00000355954:A48T;ENSP00000344352:A48T;ENSP00000355950:A48T;ENSP00000336908:A19T	ENSP00000336908:A19T	A	+	1	0	ATF3	210855128	1.000000	0.71417	0.993000	0.49108	0.999000	0.98932	7.725000	0.84808	1.564000	0.49628	0.650000	0.86243	GCC		0.572	ATF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089296.1	NM_001674		24	32	0	0	0	1	0	24	32					A	212788505	G	A	212788505	3	1	435	1	0	0	0	0	1	0	0	0	1081	1319	46	3	144	3	ATF3	1	212788505	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	267787	212788505	36462116	842	21767											
FAM71A	149647	broad.mit.edu	37	chr1	212799339	212799339	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtgtgagcctggccattgcaGgagtagtactgaccagcagg	9	8	15	9	0	0	2	0	2	0	0	0	3	0	3	3	3	4	4	3	3	2	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:212799339G>T	ENST00000294829.3	+	1	1551	c.1120G>T	c.(1120-1122)Gga>Tga	p.G374*	RP11-338C15.5_ENST00000427949.1_RNA	NM_153606.3	NP_705834.2	Q8IYT1	FA71A_HUMAN	family with sequence similarity 71, member A	374	Ala-rich.					nucleus (GO:0005634)				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(7)|liver(1)|lung(12)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				OV - Ovarian serous cystadenocarcinoma(81;0.00631)|all cancers(67;0.00981)|GBM - Glioblastoma multiforme(131;0.0715)|Epithelial(68;0.094)		GGCCATTGCAGGAGTAGTACT	0.612																																						ENST00000294829.3																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(7)|liver(1)|lung(12)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(1120-1122)Gga>Tga		family with sequence similarity 71, member A							62	66	65					1																	212799339		2203	4300	6503	SO:0001587	stop_gained	149647							g.chr1:212799339G>T		CCDS1507.1	1q32.3	2008-02-05			ENSG00000162771	ENSG00000162771			26541	protein-coding gene	gene with protein product						12477932	Standard	NM_153606		Approved	FLJ32796	uc010pth.1	Q8IYT1	OTTHUMG00000041084	ENST00000294829.3:c.1120G>T	1.37:g.212799339G>T	ENSP00000294829:p.Gly374*					RP11-338C15.5_ENST00000427949.1_RNA	p.G374*	NM_153606.3	NP_705834.2	Q8IYT1	FA71A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.00631)|all cancers(67;0.00981)|GBM - Glioblastoma multiforme(131;0.0715)|Epithelial(68;0.094)	1	1551	+			374			Ala-rich.		Q5VTZ1	Nonsense_Mutation	SNP	ENST00000294829.3	37	c.1120G>T	CCDS1507.1	.	.	.	.	.	.	.	.	.	.	G	37	6.586205	0.97684	.	.	ENSG00000162771	ENST00000294829;ENST00000545975	.	.	.	4.43	-0.279	0.12890	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.41790	T	0.15	-0.6847	6.8131	0.23814	0.5208:0.0:0.4792:0.0	.	.	.	.	X	374;149	.	ENSP00000294829:G374X	G	+	1	0	FAM71A	210865962	0.004000	0.15560	0.000000	0.03702	0.001000	0.01503	0.244000	0.18124	-0.135000	0.11495	0.655000	0.94253	GGA		0.612	FAM71A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098529.1	NM_153606		8	22	1	0	5.18039e-06	1	5.37127e-06	8	22					T	212799339	G	T	212799339	4	4	435	1	0	0	0	0	0	1	0	0	5607	1001	35	5	1122	5	FAM71A	1	212799339	Nonsense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	10834	212799339	36451282	843	21768											
ANGEL2	90806	broad.mit.edu	37	chr1	213178540	213178540	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gccagtagcattgccaattgCgtcagcttaatatcacctcg	10	11	8	12	2	2	0	2	0	0	0	3	0	2	0	3	0	4	3	3	0	4	5	rs148141428		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:213178540C>T	ENST00000366962.3	-	5	1123	c.969G>A	c.(967-969)acG>acA	p.T323T	ANGEL2_ENST00000540642.1_Silent_p.T197T|ANGEL2_ENST00000535388.1_Silent_p.T154T|ANGEL2_ENST00000473303.1_5'Flank|ANGEL2_ENST00000544555.1_Silent_p.T154T|ANGEL2_ENST00000360506.2_Silent_p.T154T	NM_144567.3	NP_653168.2	Q5VTE6	ANGE2_HUMAN	angel homolog 2 (Drosophila)	323								p.T323T(1)		central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(8)|skin(1)	24				OV - Ovarian serous cystadenocarcinoma(81;0.00446)|all cancers(67;0.0169)|Epithelial(68;0.0921)|GBM - Glioblastoma multiforme(131;0.185)		TTGCCAATTGCGTCAGCTTAA	0.458													C|||	1	0.000199681	8e-04	0	5008	,	,		21019	0		0	False		,,,				2504	0					ENST00000366962.3																			1	Substitution - coding silent(1)	p.T323T(1)	large_intestine(1)	central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(8)|skin(1)	24						c.(967-969)acG>acA		angel homolog 2 (Drosophila)		C		4,4402	9.9+/-24.2	0,4,2199	130	114	119		969	2.4	1	1	dbSNP_134	119	0,8600		0,0,4300	no	coding-synonymous	ANGEL2	NM_144567.3		0,4,6499	TT,TC,CC		0.0,0.0908,0.0308		323/545	213178540	4,13002	2203	4300	6503	SO:0001819	synonymous_variant	90806							g.chr1:213178540C>T	AL079275	CCDS1512.1, CCDS73027.1	1q32.3	2014-06-17			ENSG00000174606	ENSG00000174606			30534	protein-coding gene	gene with protein product						11943475	Standard	XM_005273344		Approved	KIAA0759L, FLJ12793, Ccr4d	uc001hjz.3	Q5VTE6	OTTHUMG00000036927	ENST00000366962.3:c.969G>A	1.37:g.213178540C>T						ANGEL2_ENST00000535388.1_Silent_p.T154T|ANGEL2_ENST00000540642.1_Silent_p.T197T|ANGEL2_ENST00000360506.2_Silent_p.T154T|ANGEL2_ENST00000544555.1_Silent_p.T154T	p.T323T	NM_144567.3	NP_653168.2	Q5VTE6	ANGE2_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.00446)|all cancers(67;0.0169)|Epithelial(68;0.0921)|GBM - Glioblastoma multiforme(131;0.185)	5	1123	-			323					B7Z2U4|D3DTA3|Q86X13|Q8NHH3	Silent	SNP	ENST00000366962.3	37	c.969G>A	CCDS1512.1																																																																																				0.458	ANGEL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089693.1	NM_144567		17	52	0	0	0	1	0	17	52					T	213178540	C	T	213178540	2	4	435	1	0	0	0	0	0	0	0	1	609	755	27	1		1	ANGEL2	1	213178540	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	379201	213178540	36072081	844	21769											
ANGEL2	90806	broad.mit.edu	37	chr1	213181729	213181729	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcactgtcttcacatttgggAtcaacatttttgtctcctag	8	17	6	10	0	5	0	3	0	2	0	6	1	5	1	1	1	1	0	1	1	2	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:213181729A>T	ENST00000366962.3	-	3	619	c.465T>A	c.(463-465)gaT>gaA	p.D155E	ANGEL2_ENST00000540642.1_Missense_Mutation_p.D29E|ANGEL2_ENST00000535388.1_5'UTR|ANGEL2_ENST00000544555.1_5'UTR|ANGEL2_ENST00000360506.2_5'UTR	NM_144567.3	NP_653168.2	Q5VTE6	ANGE2_HUMAN	angel homolog 2 (Drosophila)	155										central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(8)|skin(1)	24				OV - Ovarian serous cystadenocarcinoma(81;0.00446)|all cancers(67;0.0169)|Epithelial(68;0.0921)|GBM - Glioblastoma multiforme(131;0.185)		CACATTTGGGATCAACATTTT	0.333																																						ENST00000366962.3																			0				central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(8)|skin(1)	24						c.(463-465)gaT>gaA		angel homolog 2 (Drosophila)							159	154	156					1																	213181729		2202	4300	6502	SO:0001583	missense	90806							g.chr1:213181729A>T	AL079275	CCDS1512.1, CCDS73027.1	1q32.3	2014-06-17			ENSG00000174606	ENSG00000174606			30534	protein-coding gene	gene with protein product						11943475	Standard	XM_005273344		Approved	KIAA0759L, FLJ12793, Ccr4d	uc001hjz.3	Q5VTE6	OTTHUMG00000036927	ENST00000366962.3:c.465T>A	1.37:g.213181729A>T	ENSP00000355929:p.Asp155Glu					ANGEL2_ENST00000535388.1_5'UTR|ANGEL2_ENST00000540642.1_Missense_Mutation_p.D29E|ANGEL2_ENST00000360506.2_5'UTR|ANGEL2_ENST00000544555.1_5'UTR	p.D155E	NM_144567.3	NP_653168.2	Q5VTE6	ANGE2_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.00446)|all cancers(67;0.0169)|Epithelial(68;0.0921)|GBM - Glioblastoma multiforme(131;0.185)	3	619	-			155					B7Z2U4|D3DTA3|Q86X13|Q8NHH3	Missense_Mutation	SNP	ENST00000366962.3	37	c.465T>A	CCDS1512.1	.	.	.	.	.	.	.	.	.	.	A	7.416	0.635639	0.14322	.	.	ENSG00000174606	ENST00000366962;ENST00000540642;ENST00000310246	T;T	0.28895	1.98;1.59	5.76	0.412	0.16397	.	0.253145	0.34411	N	0.003989	T	0.14614	0.0353	N	0.24115	0.695	0.09310	N	0.999991	B;B;B	0.20887	0.001;0.049;0.001	B;B;B	0.17433	0.003;0.018;0.001	T	0.29731	-1.0002	10	0.11794	T	0.64	-10.8285	5.9211	0.19082	0.249:0.2404:0.5106:0.0	.	29;133;155	F5H476;Q96AL9;Q5VTE6	.;.;ANGE2_HUMAN	E	155;29;133	ENSP00000355929:D155E;ENSP00000446124:D29E	ENSP00000309755:D133E	D	-	3	2	ANGEL2	211248352	0.732000	0.28121	0.012000	0.15200	0.885000	0.51271	0.457000	0.21875	-0.182000	0.10602	-0.250000	0.11733	GAT		0.333	ANGEL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089693.1	NM_144567		4	76	0	0	0	1	0	4	76					T	213181729	A	T	213181729	3	4	435	1	0	0	0	0	1	0	0	0	609	330	12	5	1197	5	ANGEL2	1	213181729	Missense_Mutation	SNP	A	TCGA-XK-AAIW-01A-11D-A41K-08	3189	213181729	36068892	845	21770											
PROX1	5629	broad.mit.edu	37	chr1	214170503	214170503	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aaagttacagagaaaacaaaCgcaagcaaaagcttccccag	20	4	7	10	1	0	1	0	0	0	1	1	2	1	1	2	0	5	4	2	0	8	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:214170503C>T	ENST00000366958.4	+	2	1233	c.625C>T	c.(625-627)Cgc>Tgc	p.R209C	PROX1_ENST00000435016.1_Missense_Mutation_p.R209C|PROX1_ENST00000261454.4_Missense_Mutation_p.R209C|PROX1_ENST00000498508.2_Missense_Mutation_p.R209C	NM_001270616.1	NP_001257545.1	Q92786	PROX1_HUMAN	prospero homeobox 1	209					aorta smooth muscle tissue morphogenesis (GO:0060414)|atrial cardiac muscle tissue morphogenesis (GO:0055009)|brain development (GO:0007420)|cell fate determination (GO:0001709)|cerebellar granule cell differentiation (GO:0021707)|dentate gyrus development (GO:0021542)|dorsal spinal cord development (GO:0021516)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|endocardium formation (GO:0060214)|hepatocyte cell migration (GO:0002194)|hepatocyte differentiation (GO:0070365)|hepatocyte proliferation (GO:0072574)|kidney development (GO:0001822)|lens development in camera-type eye (GO:0002088)|lens fiber cell morphogenesis (GO:0070309)|liver development (GO:0001889)|lung development (GO:0030324)|lymphangiogenesis (GO:0001946)|lymphatic endothelial cell differentiation (GO:0060836)|negative regulation of bile acid biosynthetic process (GO:0070858)|negative regulation of cell proliferation (GO:0008285)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of viral genome replication (GO:0045071)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|olfactory placode formation (GO:0030910)|optic placode formation involved in camera-type eye formation (GO:0046619)|otic placode formation (GO:0043049)|pancreas development (GO:0031016)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell cycle checkpoint (GO:1901978)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045737)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of forebrain neuron differentiation (GO:2000979)|positive regulation of heart growth (GO:0060421)|positive regulation of neural precursor cell proliferation (GO:2000179)|positive regulation of sarcomere organization (GO:0060298)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of circadian rhythm (GO:0042752)|regulation of gene expression (GO:0010468)|regulation of transcription involved in lymphatic endothelial cell fate commitment (GO:0060849)|response to nutrient levels (GO:0031667)|retina morphogenesis in camera-type eye (GO:0060042)|skeletal muscle thin filament assembly (GO:0030240)|venous blood vessel morphogenesis (GO:0048845)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|ventricular cardiac myofibril assembly (GO:0055005)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|DBD domain binding (GO:0050692)|DNA binding (GO:0003677)|LBD domain binding (GO:0050693)|ligand-dependent nuclear receptor binding (GO:0016922)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|prostate(2)|skin(4)	47				OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219)		AGAAAACAAACGCAAGCAAAA	0.517																																						ENST00000366958.4																			0				autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|prostate(2)|skin(4)	47						c.(625-627)Cgc>Tgc		prospero homeobox 1							41	46	45					1																	214170503		2203	4300	6503	SO:0001583	missense	5629				aorta smooth muscle tissue morphogenesis|atrial cardiac muscle tissue morphogenesis|brain development|dorsal spinal cord development|embryonic retina morphogenesis in camera-type eye|endocardium formation|hepatocyte differentiation|kidney development|lens fiber cell morphogenesis|lung development|lymphangiogenesis|negative regulation of bile acid biosynthetic process|negative regulation of cell proliferation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of viral genome replication|neural tube development|olfactory placode formation|optic placode formation involved in camera-type eye formation|otic placode formation|pancreas development|positive regulation of cyclin-dependent protein kinase activity|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of heart growth|positive regulation of S phase of mitotic cell cycle|positive regulation of sarcomere organization|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment|skeletal muscle thin filament assembly|venous blood vessel morphogenesis|ventricular cardiac muscle tissue morphogenesis|ventricular cardiac myofibril development|ventricular septum morphogenesis	cytoplasm|nucleus	DBD domain binding|LBD domain binding|ligand-dependent nuclear receptor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding	g.chr1:214170503C>T	U44060	CCDS31021.1	1q41	2011-06-20	2007-06-01		ENSG00000117707	ENSG00000117707		"Homeoboxes / PROS class"	9459	protein-coding gene	gene with protein product		601546	"prospero-related homeobox 1"			8812486	Standard	NM_002763		Approved		uc001hkg.2	Q92786	OTTHUMG00000036946	ENST00000366958.4:c.625C>T	1.37:g.214170503C>T	ENSP00000355925:p.Arg209Cys					PROX1_ENST00000498508.2_Missense_Mutation_p.R209C|PROX1_ENST00000435016.1_Missense_Mutation_p.R209C|PROX1_ENST00000261454.4_Missense_Mutation_p.R209C	p.R209C	NM_001270616.1	NP_001257545.1	Q92786	PROX1_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219)	2	1233	+			209					A6NK29|A8K2B1|Q5SW76|Q8TB91	Missense_Mutation	SNP	ENST00000366958.4	37	c.625C>T	CCDS31021.1	.	.	.	.	.	.	.	.	.	.	C	19.38	3.817082	0.70912	.	.	ENSG00000117707	ENST00000471129;ENST00000498508;ENST00000366958;ENST00000435016;ENST00000261454	T;T;T;T	0.22336	1.96;1.96;1.96;1.96	6.03	6.03	0.97812	.	0.050223	0.85682	D	0.000000	T	0.51143	0.1657	M	0.75615	2.305	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.47471	-0.9115	10	0.87932	D	0	-3.8807	20.6398	0.99548	0.0:1.0:0.0:0.0	.	209	Q92786	PROX1_HUMAN	C	209	ENSP00000420283:R209C;ENSP00000355925:R209C;ENSP00000400694:R209C;ENSP00000261454:R209C	ENSP00000261454:R209C	R	+	1	0	PROX1	212237126	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.975000	0.70475	2.881000	0.98747	0.650000	0.86243	CGC		0.517	PROX1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089727.6	NM_002763		14	19	0	0	0	1	0	14	19					T	214170503	C	T	214170503	3	4	435	1	0	0	0	0	1	0	0	0	12560	536	19	1	627	1	PROX1	1	214170503	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	988774	214170503	35080118	846	21771											
PROX1	5629	broad.mit.edu	37	chr1	214171121	214171121	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctgcagtgctttggcgacGtcatcattccgaaccccctg	6	10	10	15	3	2	0	2	0	0	0	3	2	3	0	4	1	3	2	4	1	1	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:214171121G>A	ENST00000366958.4	+	2	1851	c.1243G>A	c.(1243-1245)Gtc>Atc	p.V415I	PROX1_ENST00000435016.1_Missense_Mutation_p.V415I|PROX1_ENST00000261454.4_Missense_Mutation_p.V415I|PROX1_ENST00000498508.2_Missense_Mutation_p.V415I	NM_001270616.1	NP_001257545.1	Q92786	PROX1_HUMAN	prospero homeobox 1	415					aorta smooth muscle tissue morphogenesis (GO:0060414)|atrial cardiac muscle tissue morphogenesis (GO:0055009)|brain development (GO:0007420)|cell fate determination (GO:0001709)|cerebellar granule cell differentiation (GO:0021707)|dentate gyrus development (GO:0021542)|dorsal spinal cord development (GO:0021516)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|endocardium formation (GO:0060214)|hepatocyte cell migration (GO:0002194)|hepatocyte differentiation (GO:0070365)|hepatocyte proliferation (GO:0072574)|kidney development (GO:0001822)|lens development in camera-type eye (GO:0002088)|lens fiber cell morphogenesis (GO:0070309)|liver development (GO:0001889)|lung development (GO:0030324)|lymphangiogenesis (GO:0001946)|lymphatic endothelial cell differentiation (GO:0060836)|negative regulation of bile acid biosynthetic process (GO:0070858)|negative regulation of cell proliferation (GO:0008285)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of viral genome replication (GO:0045071)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|olfactory placode formation (GO:0030910)|optic placode formation involved in camera-type eye formation (GO:0046619)|otic placode formation (GO:0043049)|pancreas development (GO:0031016)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell cycle checkpoint (GO:1901978)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045737)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of forebrain neuron differentiation (GO:2000979)|positive regulation of heart growth (GO:0060421)|positive regulation of neural precursor cell proliferation (GO:2000179)|positive regulation of sarcomere organization (GO:0060298)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of circadian rhythm (GO:0042752)|regulation of gene expression (GO:0010468)|regulation of transcription involved in lymphatic endothelial cell fate commitment (GO:0060849)|response to nutrient levels (GO:0031667)|retina morphogenesis in camera-type eye (GO:0060042)|skeletal muscle thin filament assembly (GO:0030240)|venous blood vessel morphogenesis (GO:0048845)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|ventricular cardiac myofibril assembly (GO:0055005)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|DBD domain binding (GO:0050692)|DNA binding (GO:0003677)|LBD domain binding (GO:0050693)|ligand-dependent nuclear receptor binding (GO:0016922)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|prostate(2)|skin(4)	47				OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219)		CTTTGGCGACGTCATCATTCC	0.567																																						ENST00000366958.4																			0				autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|prostate(2)|skin(4)	47						c.(1243-1245)Gtc>Atc		prospero homeobox 1							104	104	104					1																	214171121		2203	4300	6503	SO:0001583	missense	5629				aorta smooth muscle tissue morphogenesis|atrial cardiac muscle tissue morphogenesis|brain development|dorsal spinal cord development|embryonic retina morphogenesis in camera-type eye|endocardium formation|hepatocyte differentiation|kidney development|lens fiber cell morphogenesis|lung development|lymphangiogenesis|negative regulation of bile acid biosynthetic process|negative regulation of cell proliferation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of viral genome replication|neural tube development|olfactory placode formation|optic placode formation involved in camera-type eye formation|otic placode formation|pancreas development|positive regulation of cyclin-dependent protein kinase activity|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of heart growth|positive regulation of S phase of mitotic cell cycle|positive regulation of sarcomere organization|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment|skeletal muscle thin filament assembly|venous blood vessel morphogenesis|ventricular cardiac muscle tissue morphogenesis|ventricular cardiac myofibril development|ventricular septum morphogenesis	cytoplasm|nucleus	DBD domain binding|LBD domain binding|ligand-dependent nuclear receptor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding	g.chr1:214171121G>A	U44060	CCDS31021.1	1q41	2011-06-20	2007-06-01		ENSG00000117707	ENSG00000117707		"Homeoboxes / PROS class"	9459	protein-coding gene	gene with protein product		601546	"prospero-related homeobox 1"			8812486	Standard	NM_002763		Approved		uc001hkg.2	Q92786	OTTHUMG00000036946	ENST00000366958.4:c.1243G>A	1.37:g.214171121G>A	ENSP00000355925:p.Val415Ile					PROX1_ENST00000498508.2_Missense_Mutation_p.V415I|PROX1_ENST00000435016.1_Missense_Mutation_p.V415I|PROX1_ENST00000261454.4_Missense_Mutation_p.V415I	p.V415I	NM_001270616.1	NP_001257545.1	Q92786	PROX1_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219)	2	1851	+			415					A6NK29|A8K2B1|Q5SW76|Q8TB91	Missense_Mutation	SNP	ENST00000366958.4	37	c.1243G>A	CCDS31021.1	.	.	.	.	.	.	.	.	.	.	G	18.58	3.653966	0.67472	.	.	ENSG00000117707	ENST00000498508;ENST00000366958;ENST00000435016;ENST00000261454	T;T;T;T	0.50813	0.75;0.73;0.75;0.75	5.43	5.43	0.79202	.	0.000000	0.85682	D	0.000000	T	0.66297	0.2775	M	0.63428	1.95	0.80722	D	1	D	0.76494	0.999	D	0.77004	0.989	T	0.60214	-0.7307	10	0.24483	T	0.36	-5.2736	19.2456	0.93901	0.0:0.0:1.0:0.0	.	415	Q92786	PROX1_HUMAN	I	415	ENSP00000420283:V415I;ENSP00000355925:V415I;ENSP00000400694:V415I;ENSP00000261454:V415I	ENSP00000261454:V415I	V	+	1	0	PROX1	212237744	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.624000	0.98398	2.548000	0.85928	0.591000	0.81541	GTC		0.567	PROX1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089727.6	NM_002763		21	55	0	0	0	1	0	21	55					A	214171121	G	A	214171121	3	1	435	1	0	0	0	0	1	0	0	0	12560	1145	40	1	1245	1	PROX1	1	214171121	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	618	214171121	35079500	847	21772											
SMYD2	56950	broad.mit.edu	37	chr1	214504374	214504374	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acatggtcagatatgcacgcAacgtcattgaagagttccgg	12	9	11	9	3	2	3	2	1	0	2	3	3	3	3	1	2	2	3	1	2	3	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:214504374A>G	ENST00000366957.5	+	9	920	c.898A>G	c.(898-900)Aac>Gac	p.N300D	SMYD2_ENST00000415093.2_Intron|SMYD2_ENST00000491455.1_3'UTR	NM_020197.2	NP_064582.2	Q9NRG4	SMYD2_HUMAN	SET and MYND domain containing 2	300					negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|peptidyl-lysine dimethylation (GO:0018027)|peptidyl-lysine monomethylation (GO:0018026)|regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043516)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	histone methyltransferase activity (H3-K36 specific) (GO:0046975)|metal ion binding (GO:0046872)|p53 binding (GO:0002039)|protein-lysine N-methyltransferase activity (GO:0016279)|RNA polymerase II core binding (GO:0000993)			breast(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(81;0.0122)|all cancers(67;0.0209)|GBM - Glioblastoma multiforme(131;0.106)|Epithelial(68;0.144)		ATATGCACGCAACGTCATTGA	0.498																																						ENST00000366957.5																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	14						c.(898-900)Aac>Gac		SET and MYND domain containing 2							130	127	128					1																	214504374		2203	4300	6503	SO:0001583	missense	56950				negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|peptidyl-lysine dimethylation|peptidyl-lysine monomethylation|regulation of DNA damage response, signal transduction by p53 class mediator|transcription, DNA-dependent	cytosol|nucleus	histone methyltransferase activity (H3-K36 specific)|p53 binding|RNA polymerase II core binding|zinc ion binding	g.chr1:214504374A>G	AF226053	CCDS31022.1	1q32.3	2011-07-01			ENSG00000143499	ENSG00000143499		"Zinc fingers, MYND-type", "Chromatin-modifying enzymes / K-methyltransferases"	20982	protein-coding gene	gene with protein product		610663					Standard	NM_020197		Approved	HSKM-B, ZMYND14, KMT3C	uc021pix.1	Q9NRG4	OTTHUMG00000037066	ENST00000366957.5:c.898A>G	1.37:g.214504374A>G	ENSP00000355924:p.Asn300Asp					SMYD2_ENST00000491455.1_3'UTR|SMYD2_ENST00000415093.2_Intron	p.N300D	NM_020197.2	NP_064582.2	Q9NRG4	SMYD2_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0122)|all cancers(67;0.0209)|GBM - Glioblastoma multiforme(131;0.106)|Epithelial(68;0.144)	9	920	+			300					B2R9P9|I6L9H7|Q4V765|Q5VSH9|Q96AI4	Missense_Mutation	SNP	ENST00000366957.5	37	c.898A>G	CCDS31022.1	.	.	.	.	.	.	.	.	.	.	A	13.58	2.278476	0.40294	.	.	ENSG00000143499	ENST00000366957;ENST00000416415	T	0.17054	2.3	5.84	4.71	0.59529	.	0.428844	0.28067	N	0.016724	T	0.13756	0.0333	L	0.50919	1.6	0.80722	D	1	B;B	0.33345	0.197;0.409	B;B	0.29176	0.045;0.099	T	0.04752	-1.0929	10	0.11182	T	0.66	-9.0808	10.4	0.44225	0.9263:0.0:0.0737:0.0	.	300;284	Q9NRG4;Q05C86	SMYD2_HUMAN;.	D	300;19	ENSP00000355924:N300D	ENSP00000355924:N300D	N	+	1	0	SMYD2	212570997	1.000000	0.71417	0.987000	0.45799	0.996000	0.88848	5.995000	0.70631	1.031000	0.39867	0.533000	0.62120	AAC		0.498	SMYD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089998.1	NM_020197		26	38	0	0	0	1	0	26	38					G	214504374	A	G	214504374	3	3	435	1	0	0	0	0	1	0	0	0	14822	130	5	4	932	4	SMYD2	1	214504374	Missense_Mutation	SNP	A	TCGA-XK-AAIW-01A-11D-A41K-08	333253	214504374	34746247	848	21773											
CENPF	1063	broad.mit.edu	37	chr1	214819539	214819539	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	attagaccttgtcacgttaaGgtctgaaaaagaaaatctga	16	11	8	6	1	3	4	1	2	2	2	3	4	3	4	1	1	0	1	1	1	6	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:214819539G>T	ENST00000366955.3	+	13	6794	c.6626G>T	c.(6625-6627)aGg>aTg	p.R2209M		NM_016343.3	NP_057427.3	P49454	CENPF_HUMAN	centromere protein F, 350/400kDa	2305	2 X 177 AA tandem repeats.|Interaction with NDE1 and NDEL1.				cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|chromosome segregation (GO:0007059)|DNA replication (GO:0006260)|G2/M transition of mitotic cell cycle (GO:0000086)|kinetochore assembly (GO:0051382)|metaphase plate congression (GO:0051310)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|muscle organ development (GO:0007517)|negative regulation of transcription, DNA-templated (GO:0045892)|protein transport (GO:0015031)|regulation of cell cycle (GO:0051726)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|regulation of striated muscle tissue development (GO:0016202)|response to drug (GO:0042493)	chromosome, centromeric region (GO:0000775)|condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|midbody (GO:0030496)|nuclear envelope (GO:0005635)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)|pronucleus (GO:0045120)|spindle (GO:0005819)|spindle pole (GO:0000922)	chromatin binding (GO:0003682)|dynein binding (GO:0045502)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)|transcription factor binding (GO:0008134)			NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		GTCACGTTAAGGTCTGAAAAA	0.353																																					Colon(80;575 1284 11000 14801 43496)	ENST00000366955.3																			0				NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126						c.(6625-6627)aGg>aTg		centromere protein F, 350/400kDa							47	53	51					1																	214819539		2203	4300	6503	SO:0001583	missense	1063				cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug	condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole	chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding	g.chr1:214819539G>T	U30872	CCDS31023.1	1q41	2013-11-05	2013-01-17		ENSG00000117724	ENSG00000117724			1857	protein-coding gene	gene with protein product	"mitosin"	600236	"centromere protein F, 350/400kDa (mitosin)"			7904902, 7851898	Standard	NM_016343		Approved	hcp-1	uc001hkm.3	P49454	OTTHUMG00000036955	ENST00000366955.3:c.6626G>T	1.37:g.214819539G>T	ENSP00000355922:p.Arg2209Met						p.R2209M	NM_016343.3	NP_057427.3	P49454	CENPF_HUMAN		all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)	13	6794	+			2305			2 X 177 AA tandem repeats.|Interaction with NDE1 and NDEL1.		Q13171|Q13246|Q5VVM7	Missense_Mutation	SNP	ENST00000366955.3	37	c.6626G>T	CCDS31023.1	.	.	.	.	.	.	.	.	.	.	G	18.15	3.560599	0.65538	.	.	ENSG00000117724	ENST00000366955	T	0.54071	0.59	5.33	1.07	0.20283	Centromere protein Cenp-F, leucine-rich repeat-containing domain (1);	0.220932	0.23686	N	0.045561	T	0.67702	0.2921	M	0.82056	2.57	0.09310	N	1	D	0.71674	0.998	D	0.66847	0.947	T	0.59107	-0.7516	10	0.66056	D	0.02	.	9.2863	0.37760	0.4105:0.0:0.5895:0.0	.	2305	P49454	CENPF_HUMAN	M	2209	ENSP00000355922:R2209M	ENSP00000355922:R2209M	R	+	2	0	CENPF	212886162	0.000000	0.05858	0.001000	0.08648	0.625000	0.37756	-0.127000	0.10547	0.174000	0.19809	0.514000	0.50259	AGG		0.353	CENPF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089749.1	NM_016343		15	29	1	0	7.93312e-07	1	8.27737e-07	15	29					T	214819539	G	T	214819539	3	4	435	1	0	0	0	0	1	0	0	0	3231	1000	35	5	6672	5	CENPF	1	214819539	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	315165	214819539	34431082	849	21774											
CENPF	1063	broad.mit.edu	37	chr1	214826195	214826195	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aagtagaaatccagacatacCgagagaaattgacttctaaa	19	8	7	7	1	1	4	0	1	1	3	2	6	2	4	2	0	1	1	2	0	7	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:214826195C>T	ENST00000366955.3	+	16	8353	c.8185C>T	c.(8185-8187)Cga>Tga	p.R2729*	CENPF_ENST00000467765.1_3'UTR	NM_016343.3	NP_057427.3	P49454	CENPF_HUMAN	centromere protein F, 350/400kDa	2825	Sufficient for centromere localization.|Sufficient for self-association.				cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|chromosome segregation (GO:0007059)|DNA replication (GO:0006260)|G2/M transition of mitotic cell cycle (GO:0000086)|kinetochore assembly (GO:0051382)|metaphase plate congression (GO:0051310)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|muscle organ development (GO:0007517)|negative regulation of transcription, DNA-templated (GO:0045892)|protein transport (GO:0015031)|regulation of cell cycle (GO:0051726)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|regulation of striated muscle tissue development (GO:0016202)|response to drug (GO:0042493)	chromosome, centromeric region (GO:0000775)|condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|midbody (GO:0030496)|nuclear envelope (GO:0005635)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)|pronucleus (GO:0045120)|spindle (GO:0005819)|spindle pole (GO:0000922)	chromatin binding (GO:0003682)|dynein binding (GO:0045502)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)|transcription factor binding (GO:0008134)			NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		CCAGACATACCGAGAGAAATT	0.338																																					Colon(80;575 1284 11000 14801 43496)	ENST00000366955.3																			0				NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126						c.(8185-8187)Cga>Tga		centromere protein F, 350/400kDa							70	71	71					1																	214826195		2203	4300	6503	SO:0001587	stop_gained	1063				cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug	condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole	chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding	g.chr1:214826195C>T	U30872	CCDS31023.1	1q41	2013-11-05	2013-01-17		ENSG00000117724	ENSG00000117724			1857	protein-coding gene	gene with protein product	"mitosin"	600236	"centromere protein F, 350/400kDa (mitosin)"			7904902, 7851898	Standard	NM_016343		Approved	hcp-1	uc001hkm.3	P49454	OTTHUMG00000036955	ENST00000366955.3:c.8185C>T	1.37:g.214826195C>T	ENSP00000355922:p.Arg2729*					CENPF_ENST00000467765.1_3'UTR	p.R2729*	NM_016343.3	NP_057427.3	P49454	CENPF_HUMAN		all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)	16	8353	+			2825			Sufficient for centromere localization.|Sufficient for self-association.		Q13171|Q13246|Q5VVM7	Nonsense_Mutation	SNP	ENST00000366955.3	37	c.8185C>T	CCDS31023.1	.	.	.	.	.	.	.	.	.	.	C	47	13.754184	0.99761	.	.	ENSG00000117724	ENST00000366955;ENST00000391896	.	.	.	3.65	3.65	0.41850	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.366	0.66805	0.0:1.0:0.0:0.0	.	.	.	.	X	2729;128	.	ENSP00000355922:R2729X	R	+	1	2	CENPF	212892818	0.400000	0.25295	0.002000	0.10522	0.043000	0.13939	3.661000	0.54503	1.601000	0.50113	0.511000	0.50034	CGA		0.338	CENPF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089749.1	NM_016343		10	64	0	0	0	1	0	10	64					T	214826195	C	T	214826195	4	4	435	1	0	0	0	0	0	1	0	0	3231	644	23	2	8243	2	CENPF	1	214826195	Nonsense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	6656	214826195	34424426	850	21775											
USH2A	7399	broad.mit.edu	37	chr1	215802302	215802302	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttggttttgactcgggatgcGcaggacacatgcactccggt	7	11	13	10	3	0	1	0	1	0	0	2	3	1	3	1	4	2	3	1	4	0	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:215802302G>A	ENST00000307340.3	-	71	15759	c.15373C>T	c.(15373-15375)Cgc>Tgc	p.R5125C	USH2A_ENST00000366943.2_Missense_Mutation_p.R5149C|SNORD116_ENST00000365628.1_RNA	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	5125					hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		CTCGGGATGCGCAGGACACAT	0.527										HNSCC(13;0.011)																												ENST00000366943.2																			0				NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527						c.(15445-15447)Cgc>Tgc		Usher syndrome 2A (autosomal recessive, mild)							135	133	133					1																	215802302		2203	4300	6503	SO:0001583	missense	7399				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	g.chr1:215802302G>A	AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"Fibronectin type III domain containing"	12601	protein-coding gene	gene with protein product	"usherin"	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.15373C>T	1.37:g.215802302G>A	ENSP00000305941:p.Arg5125Cys	HNSCC(13;0.011)				USH2A_ENST00000307340.3_Missense_Mutation_p.R5125C	p.R5149C			O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	72	15831	-			5125					Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	c.15445C>T	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	G	15.49	2.849924	0.51270	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	T;T	0.48522	0.81;0.81	5.39	2.18	0.27775	.	0.000000	0.38436	U	0.001688	T	0.40570	0.1122	M	0.61703	1.905	0.50467	D	0.999877	B	0.27068	0.167	B	0.20767	0.031	T	0.46034	-0.9220	10	0.72032	D	0.01	.	8.1282	0.31012	0.0733:0.0:0.5491:0.3776	.	5125	O75445	USH2A_HUMAN	C	5125;5149	ENSP00000305941:R5125C;ENSP00000355910:R5149C	ENSP00000305941:R5125C	R	-	1	0	USH2A	213868925	0.934000	0.31675	0.360000	0.25837	0.025000	0.11179	2.787000	0.47798	1.230000	0.43646	0.591000	0.81541	CGC		0.527	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		27	40	0	0	0	1	0	27	40					A	215802302	G	A	215802302	3	1	435	1	0	0	0	0	1	0	0	0	17033	1087	38	1	243	1	USH2A	1	215802302	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	976107	215802302	33448319	851	21776											
USH2A	7399	broad.mit.edu	37	chr1	215813957	215813957	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caagccgctgtacacgcgtcGccctccgtcggttaacacgt	7	8	10	16	7	0	0	0	0	0	0	3	0	1	0	3	1	3	3	3	1	3	2	rs397517994		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:215813957G>A	ENST00000307340.3	-	68	15297	c.14911C>T	c.(14911-14913)Cga>Tga	p.R4971*	USH2A_ENST00000366943.2_Nonsense_Mutation_p.R4971*	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	4971					hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TACACGCGTCGCCCTCCGTCG	0.532										HNSCC(13;0.011)																												ENST00000366943.2																			0				NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527						c.(14911-14913)Cga>Tga		Usher syndrome 2A (autosomal recessive, mild)							135	102	113					1																	215813957		2203	4300	6503	SO:0001587	stop_gained	7399				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	g.chr1:215813957G>A	AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"Fibronectin type III domain containing"	12601	protein-coding gene	gene with protein product	"usherin"	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.14911C>T	1.37:g.215813957G>A	ENSP00000305941:p.Arg4971*	HNSCC(13;0.011)				USH2A_ENST00000307340.3_Nonsense_Mutation_p.R4971*	p.R4971*			O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	68	15297	-			4971			Fibronectin type-III 35.		Q5VVM9|Q6S362|Q9NS27	Nonsense_Mutation	SNP	ENST00000307340.3	37	c.14911C>T	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	G	56	25.422427	0.99965	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	.	.	.	5.6	5.6	0.85130	.	0.380260	0.18722	U	0.132991	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.6338	0.95721	0.0:0.0:1.0:0.0	.	.	.	.	X	4971	.	ENSP00000305941:R4971X	R	-	1	2	USH2A	213880580	0.999000	0.42202	0.014000	0.15608	0.004000	0.04260	3.424000	0.52764	2.636000	0.89361	0.591000	0.81541	CGA		0.532	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		4	24	0	0	0	1	0	4	24					A	215813957	G	A	215813957	4	1	435	1	0	0	0	0	0	1	0	0	17033	1095	38	1	717	1	USH2A	1	215813957	Nonsense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	11655	215813957	33436664	852	21777											
USH2A	7399	broad.mit.edu	37	chr1	215848230	215848230	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctggtgggtttgctggtggaGcatcctccactcgtgcaggc	4	11	15	11	1	0	0	0	0	0	0	3	1	2	1	2	5	3	4	2	5	0	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:215848230G>A	ENST00000307340.3	-	63	13409	c.13023C>T	c.(13021-13023)tgC>tgT	p.C4341C	USH2A_ENST00000366943.2_Silent_p.C4341C	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	4341	Fibronectin type-III 28. {ECO:0000255|PROSITE-ProRule:PRU00316}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TGCTGGTGGAGCATCCTCCAC	0.488										HNSCC(13;0.011)																												ENST00000366943.2																			0				NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527						c.(13021-13023)tgC>tgT		Usher syndrome 2A (autosomal recessive, mild)							73	73	73					1																	215848230		2203	4300	6503	SO:0001819	synonymous_variant	7399				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	g.chr1:215848230G>A	AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"Fibronectin type III domain containing"	12601	protein-coding gene	gene with protein product	"usherin"	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.13023C>T	1.37:g.215848230G>A		HNSCC(13;0.011)				USH2A_ENST00000307340.3_Silent_p.C4341C	p.C4341C			O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	63	13409	-			4341			Fibronectin type-III 28.		Q5VVM9|Q6S362|Q9NS27	Silent	SNP	ENST00000307340.3	37	c.13023C>T	CCDS31025.1																																																																																				0.488	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		7	76	0	0	0	1	0	7	76					A	215848230	G	A	215848230	2	1	435	1	0	0	0	0	0	0	0	1	17033	963	34	3		3	USH2A	1	215848230	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	34273	215848230	33402391	853	21778											
USH2A	7399	broad.mit.edu	37	chr1	215987212	215987212	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cttcacaacagcgatgtccaGgcttggggttatagagcact	10	10	11	10	1	1	1	1	0	0	1	2	2	2	1	1	3	3	3	1	3	3	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:215987212G>T	ENST00000307340.3	-	49	9991	c.9605C>A	c.(9604-9606)cCt>cAt	p.P3202H	USH2A_ENST00000366943.2_Missense_Mutation_p.P3202H	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	3202	Fibronectin type-III 18. {ECO:0000255|PROSITE-ProRule:PRU00316}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		GCGATGTCCAGGCTTGGGGTT	0.398										HNSCC(13;0.011)																												ENST00000366943.2																			0				NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527						c.(9604-9606)cCt>cAt		Usher syndrome 2A (autosomal recessive, mild)							102	94	97					1																	215987212		2203	4300	6503	SO:0001583	missense	7399				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	g.chr1:215987212G>T	AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"Fibronectin type III domain containing"	12601	protein-coding gene	gene with protein product	"usherin"	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.9605C>A	1.37:g.215987212G>T	ENSP00000305941:p.Pro3202His	HNSCC(13;0.011)				USH2A_ENST00000307340.3_Missense_Mutation_p.P3202H	p.P3202H			O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	49	9991	-			3202					Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	c.9605C>A	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.041978	0.75732	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	T;T	0.13420	2.59;2.59	5.98	5.07	0.68467	Fibronectin, type III (2);	0.167298	0.28209	N	0.016194	T	0.28433	0.0703	M	0.77103	2.36	0.38803	D	0.955234	D	0.63880	0.993	P	0.49999	0.628	T	0.09164	-1.0687	10	0.87932	D	0	.	15.5088	0.75764	0.067:0.0:0.933:0.0	.	3202	O75445	USH2A_HUMAN	H	3202	ENSP00000305941:P3202H;ENSP00000355910:P3202H	ENSP00000305941:P3202H	P	-	2	0	USH2A	214053835	1.000000	0.71417	0.999000	0.59377	0.058000	0.15608	5.443000	0.66581	2.847000	0.97988	0.591000	0.81541	CCT		0.398	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		12	38	1	0	3.27435e-08	1	3.44876e-08	12	38					T	215987212	G	T	215987212	3	4	435	1	0	0	0	0	1	0	0	0	17033	1000	35	5	6099	5	USH2A	1	215987212	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	138982	215987212	33263409	854	21779											
USH2A	7399	broad.mit.edu	37	chr1	216062234	216062234	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgggtgtaaatgcatcactGtgcaattagtgacatttcca	12	13	9	7	0	1	1	1	1	0	0	2	1	2	1	1	1	2	3	1	1	4	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:216062234G>A	ENST00000307340.3	-	41	8143	c.7757C>T	c.(7756-7758)aCa>aTa	p.T2586I	USH2A_ENST00000366943.2_Missense_Mutation_p.T2586I|RP5-1111A8.3_ENST00000414995.1_RNA	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	2586	Fibronectin type-III 12. {ECO:0000255|PROSITE-ProRule:PRU00316}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		ATGCATCACTGTGCAATTAGT	0.423										HNSCC(13;0.011)																												ENST00000366943.2																			0				NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527						c.(7756-7758)aCa>aTa		Usher syndrome 2A (autosomal recessive, mild)							148	142	144					1																	216062234		2203	4300	6503	SO:0001583	missense	7399				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	g.chr1:216062234G>A	AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"Fibronectin type III domain containing"	12601	protein-coding gene	gene with protein product	"usherin"	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.7757C>T	1.37:g.216062234G>A	ENSP00000305941:p.Thr2586Ile	HNSCC(13;0.011)				USH2A_ENST00000307340.3_Missense_Mutation_p.T2586I|RP5-1111A8.3_ENST00000414995.1_RNA	p.T2586I			O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	41	8143	-			2586			Fibronectin type-III 12.		Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	c.7757C>T	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	G	13.02	2.113228	0.37339	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	T;T	0.60920	0.15;0.15	6.03	6.03	0.97812	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.46442	D	0.000295	T	0.70211	0.3198	M	0.70595	2.14	0.33687	D	0.612877	D	0.61080	0.989	P	0.59357	0.856	T	0.74601	-0.3611	10	0.27082	T	0.32	.	14.6738	0.68964	0.0688:0.0:0.9312:0.0	.	2586	O75445	USH2A_HUMAN	I	2586	ENSP00000305941:T2586I;ENSP00000355910:T2586I	ENSP00000305941:T2586I	T	-	2	0	USH2A	214128857	0.990000	0.36364	0.180000	0.23079	0.779000	0.44077	2.208000	0.42797	2.861000	0.98227	0.655000	0.94253	ACA		0.423	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		40	49	0	0	0	1	0	40	49					A	216062234	G	A	216062234	3	1	435	1	0	0	0	0	1	0	0	0	17033	1377	48	3	7979	3	USH2A	1	216062234	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	75022	216062234	33188387	855	21780											
USH2A	7399	broad.mit.edu	37	chr1	216074111	216074111	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gctcactctagaaatccatgGgtggagtcgccagacctcat	10	9	10	12	1	3	2	2	0	1	2	5	3	4	3	3	2	0	1	3	2	2	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:216074111G>A	ENST00000307340.3	-	39	7823	c.7437C>T	c.(7435-7437)acC>acT	p.T2479T	USH2A_ENST00000366943.2_Silent_p.T2479T|RP5-1111A8.3_ENST00000414995.1_RNA	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	2479	Fibronectin type-III 11. {ECO:0000255|PROSITE-ProRule:PRU00316}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		GAAATCCATGGGTGGAGTCGC	0.458										HNSCC(13;0.011)																												ENST00000366943.2																			0				NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527						c.(7435-7437)acC>acT		Usher syndrome 2A (autosomal recessive, mild)							82	84	83					1																	216074111		2203	4300	6503	SO:0001819	synonymous_variant	7399				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	g.chr1:216074111G>A	AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"Fibronectin type III domain containing"	12601	protein-coding gene	gene with protein product	"usherin"	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.7437C>T	1.37:g.216074111G>A		HNSCC(13;0.011)				USH2A_ENST00000307340.3_Silent_p.T2479T|RP5-1111A8.3_ENST00000414995.1_RNA	p.T2479T			O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	39	7823	-			2479			Fibronectin type-III 11.		Q5VVM9|Q6S362|Q9NS27	Silent	SNP	ENST00000307340.3	37	c.7437C>T	CCDS31025.1																																																																																				0.458	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		32	46	0	0	0	1	0	32	46					A	216074111	G	A	216074111	2	1	435	1	0	0	0	0	0	0	0	1	17033	1219	43	3		3	USH2A	1	216074111	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	11877	216074111	33176510	856	21781											
USH2A	7399	broad.mit.edu	37	chr1	216371664	216371664	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cattgatctttacctgattcTcccgttctttctgagaccca	7	16	5	13	1	4	3	0	3	4	1	5	4	4	3	3	0	1	1	3	0	1	6			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:216371664T>C	ENST00000307340.3	-	18	4460	c.4074A>G	c.(4072-4074)ggA>ggG	p.G1358G	USH2A_ENST00000366942.3_Silent_p.G1358G|RP5-1099E6.3_ENST00000420867.1_RNA|USH2A_ENST00000366943.2_Silent_p.G1358G	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	1358	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TACCTGATTCTCCCGTTCTTT	0.388										HNSCC(13;0.011)																												ENST00000366943.2																			0				NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527						c.(4072-4074)ggA>ggG		Usher syndrome 2A (autosomal recessive, mild)							91	89	90					1																	216371664		2203	4300	6503	SO:0001819	synonymous_variant	7399				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	g.chr1:216371664T>C	AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"Fibronectin type III domain containing"	12601	protein-coding gene	gene with protein product	"usherin"	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.4074A>G	1.37:g.216371664T>C		HNSCC(13;0.011)				USH2A_ENST00000366942.3_Silent_p.G1358G|RP5-1099E6.3_ENST00000420867.1_RNA|USH2A_ENST00000307340.3_Silent_p.G1358G	p.G1358G			O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	18	4460	-			1358					Q5VVM9|Q6S362|Q9NS27	Silent	SNP	ENST00000307340.3	37	c.4074A>G	CCDS31025.1																																																																																				0.388	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		36	56	0	0	0	1	0	36	56					C	216371664	T	C	216371664	2	2	435	1	0	0	0	0	0	0	0	1	17033	1538	54	4		4	USH2A	1	216371664	Silent	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	297553	216371664	32878957	857	21782											
ESRRG	2104	broad.mit.edu	37	chr1	216850735	216850735	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagggctgtggtggttgacgCtgtccgtcagggaggctggg	4	9	20	8	2	1	1	1	1	0	0	2	2	2	2	1	6	0	4	1	6	0	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:216850735C>T	ENST00000408911.3	-	2	308	c.155G>A	c.(154-156)aGc>aAc	p.S52N	ESRRG_ENST00000361525.3_Missense_Mutation_p.S29N|ESRRG_ENST00000391890.3_Missense_Mutation_p.S29N|ESRRG_ENST00000366940.2_Missense_Mutation_p.S29N|ESRRG_ENST00000361395.2_Missense_Mutation_p.S29N|ESRRG_ENST00000463665.1_Missense_Mutation_p.S29N|ESRRG_ENST00000487276.1_Missense_Mutation_p.S29N|ESRRG_ENST00000360012.3_Missense_Mutation_p.S29N|ESRRG_ENST00000359162.2_Missense_Mutation_p.S29N|ESRRG_ENST00000493603.1_Missense_Mutation_p.S29N|ESRRG_ENST00000366937.1_Missense_Mutation_p.S57N|ESRRG_ENST00000366938.2_Missense_Mutation_p.S29N|ESRRG_ENST00000493748.1_Missense_Mutation_p.S29N	NM_001438.3	NP_001429.2	P62508	ERR3_HUMAN	estrogen-related receptor gamma	52					gene expression (GO:0010467)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)	AF-2 domain binding (GO:0050682)|retinoic acid receptor activity (GO:0003708)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			endometrium(5)|kidney(1)|large_intestine(8)|liver(1)|lung(29)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	49				OV - Ovarian serous cystadenocarcinoma(81;0.0358)|all cancers(67;0.0693)|GBM - Glioblastoma multiforme(131;0.0713)	Diethylstilbestrol(DB00255)	GTGGTTGACGCTGTCCGTCAG	0.542																																						ENST00000391890.3																			0				endometrium(5)|kidney(1)|large_intestine(8)|liver(1)|lung(29)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	49						c.(85-87)aGc>aAc		estrogen-related receptor gamma	Diethylstilbestrol(DB00255)						99	89	92					1																	216850735		2203	4300	6503	SO:0001583	missense	2104				positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	AF-2 domain binding|retinoic acid receptor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	g.chr1:216850735C>T	AF058291	CCDS1517.1, CCDS41468.1, CCDS58060.1, CCDS58061.1	1q41	2014-02-18			ENSG00000196482	ENSG00000196482		"Nuclear hormone receptors"	3474	protein-coding gene	gene with protein product		602969				9676434, 10072763	Standard	NM_001243505		Approved	NR3B3	uc001hkw.2	P62508	OTTHUMG00000037025	ENST00000408911.3:c.155G>A	1.37:g.216850735C>T	ENSP00000386171:p.Ser52Asn					ESRRG_ENST00000366940.2_Missense_Mutation_p.S29N|ESRRG_ENST00000487276.1_Missense_Mutation_p.S29N|ESRRG_ENST00000408911.3_Missense_Mutation_p.S52N|ESRRG_ENST00000359162.2_Missense_Mutation_p.S29N|ESRRG_ENST00000463665.1_Missense_Mutation_p.S29N|ESRRG_ENST00000493748.1_Missense_Mutation_p.S29N|ESRRG_ENST00000361395.2_Missense_Mutation_p.S29N|ESRRG_ENST00000360012.3_Missense_Mutation_p.S29N|ESRRG_ENST00000366938.2_Missense_Mutation_p.S29N|ESRRG_ENST00000366937.1_Missense_Mutation_p.S57N|ESRRG_ENST00000361525.3_Missense_Mutation_p.S29N|ESRRG_ENST00000493603.1_Missense_Mutation_p.S29N	p.S29N	NM_001243515.1|NM_001243519.1	NP_001230444.1|NP_001230448.1	P62508	ERR3_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0358)|all cancers(67;0.0693)|GBM - Glioblastoma multiforme(131;0.0713)	4	603	-			52					A8K4I0|A8K6I2|B3KY84|E9PGB7|F8W8J3|O75454|O96021|Q68DA0|Q6P274|Q6PK28|Q6TS38|Q9R1F3|Q9UNJ4	Missense_Mutation	SNP	ENST00000408911.3	37	c.86G>A	CCDS41468.1	.	.	.	.	.	.	.	.	.	.	C	34	5.335765	0.95758	.	.	ENSG00000196482	ENST00000361525;ENST00000366940;ENST00000366937;ENST00000408911;ENST00000359162;ENST00000361395;ENST00000366938;ENST00000360012;ENST00000493603;ENST00000391890;ENST00000463665;ENST00000487276;ENST00000354407;ENST00000493748;ENST00000475275;ENST00000469486;ENST00000459955;ENST00000481543	D;D;D;D;D;D;D;D;D;D;D;D;D;D;T;T;T	0.95307	-3.3;-3.3;-3.29;-3.28;-3.3;-3.3;-3.3;-3.3;-3.3;-3.32;-3.67;-3.3;-3.3;-3.12;0.83;0.73;0.71	6.16	6.16	0.99307	.	0.000000	0.85682	D	0.000000	D	0.92864	0.7730	L	0.48642	1.525	0.80722	D	1	B;P;B	0.36535	0.073;0.557;0.421	B;B;B	0.35971	0.045;0.215;0.074	D	0.91347	0.5101	10	0.46703	T	0.11	.	20.8598	0.99761	0.0:1.0:0.0:0.0	.	29;57;52	E9PGB7;F8W8J3;P62508	.;.;ERR3_HUMAN	N	29;29;57;52;29;29;29;29;29;29;29;29;29;29;29;29;29;29	ENSP00000355225:S29N;ENSP00000355907:S29N;ENSP00000355904:S57N;ENSP00000386171:S52N;ENSP00000352077:S29N;ENSP00000354584:S29N;ENSP00000355905:S29N;ENSP00000353108:S29N;ENSP00000419594:S29N;ENSP00000375761:S29N;ENSP00000418629:S29N;ENSP00000419155:S29N;ENSP00000417374:S29N;ENSP00000419514:S29N;ENSP00000417900:S29N;ENSP00000420370:S29N;ENSP00000418895:S29N	ENSP00000346386:S29N	S	-	2	0	ESRRG	214917358	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.992000	0.56980	2.937000	0.99478	0.650000	0.86243	AGC		0.542	ESRRG-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000089882.2	NM_206595		10	25	0	0	0	1	0	10	25					T	216850735	C	T	216850735	3	4	435	1	0	0	0	0	1	0	0	0	5262	797	28	3	1245	3	ESRRG	1	216850735	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	479071	216850735	32399886	858	21783											
TGFB2	7042	broad.mit.edu	37	chr1	218578521	218578521	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttttacagatgccatcccGcccactttctacagacccta	9	13	4	15	1	1	2	0	0	1	2	2	2	2	2	4	0	3	0	4	0	3	6	rs138514914	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:218578521G>A	ENST00000366930.4	+	2	824	c.357G>A	c.(355-357)ccG>ccA	p.P119P	TGFB2_ENST00000366929.4_Silent_p.P147P	NM_003238.3	NP_003229.1	P61812	TGFB2_HUMAN	transforming growth factor, beta 2	119					activation of protein kinase activity (GO:0032147)|angiogenesis (GO:0001525)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|blood vessel remodeling (GO:0001974)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac muscle cell proliferation (GO:0060038)|cardioblast differentiation (GO:0010002)|cartilage condensation (GO:0001502)|catagen (GO:0042637)|cell cycle arrest (GO:0007050)|cell death (GO:0008219)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell morphogenesis (GO:0000902)|cell proliferation (GO:0008283)|cell-cell junction organization (GO:0045216)|cell-cell signaling (GO:0007267)|collagen fibril organization (GO:0030199)|dopamine biosynthetic process (GO:0042416)|embryo development (GO:0009790)|embryonic digestive tract development (GO:0048566)|epithelial to mesenchymal transition (GO:0001837)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway (GO:0097191)|eye development (GO:0001654)|face morphogenesis (GO:0060325)|generation of neurons (GO:0048699)|glial cell migration (GO:0008347)|hair follicle development (GO:0001942)|hair follicle morphogenesis (GO:0031069)|heart development (GO:0007507)|heart morphogenesis (GO:0003007)|hemopoiesis (GO:0030097)|menstrual cycle phase (GO:0022601)|negative regulation of alkaline phosphatase activity (GO:0010693)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of immune response (GO:0050777)|negative regulation of macrophage cytokine production (GO:0010936)|neuron development (GO:0048666)|neuron fate commitment (GO:0048663)|neutrophil chemotaxis (GO:0030593)|odontogenesis (GO:0042476)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of activation-induced cell death of T cells (GO:0070237)|positive regulation of cardioblast differentiation (GO:0051891)|positive regulation of catagen (GO:0051795)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell division (GO:0051781)|positive regulation of cell growth (GO:0030307)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of gene expression (GO:0010628)|positive regulation of heart contraction (GO:0045823)|positive regulation of immune response (GO:0050778)|positive regulation of integrin biosynthetic process (GO:0045726)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of ossification (GO:0045778)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein secretion (GO:0050714)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein phosphorylation (GO:0006468)|regulation of transforming growth factor beta2 production (GO:0032909)|response to drug (GO:0042493)|response to hypoxia (GO:0001666)|response to progesterone (GO:0032570)|response to wounding (GO:0009611)|salivary gland morphogenesis (GO:0007435)|signal transduction by phosphorylation (GO:0023014)|SMAD protein import into nucleus (GO:0007184)|somatic stem cell division (GO:0048103)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	axon (GO:0030424)|endosome (GO:0005768)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|neuronal cell body (GO:0043025)|platelet alpha granule lumen (GO:0031093)	beta-amyloid binding (GO:0001540)|cytokine activity (GO:0005125)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|transforming growth factor beta receptor binding (GO:0005160)|type II transforming growth factor beta receptor binding (GO:0005114)			breast(1)|endometrium(1)|large_intestine(11)|lung(15)|upper_aerodigestive_tract(2)|urinary_tract(1)	31				all cancers(67;0.0459)|OV - Ovarian serous cystadenocarcinoma(81;0.049)|GBM - Glioblastoma multiforme(131;0.0776)		ATGCCATCCCGCCCACTTTCT	0.403																																						ENST00000366929.4																			0				breast(1)|endometrium(1)|large_intestine(11)|lung(15)|upper_aerodigestive_tract(2)|urinary_tract(1)	31						c.(439-441)ccG>ccA		transforming growth factor, beta 2		G	,	0,4406		0,0,2203	207	203	204		441,357	-0.2	1	1	dbSNP_134	204	9,8591	7.1+/-27.0	0,9,4291	no	coding-synonymous,coding-synonymous	TGFB2	NM_001135599.2,NM_003238.3	,	0,9,6494	AA,AG,GG		0.1047,0.0,0.0692	,	147/443,119/415	218578521	9,12997	2203	4300	6503	SO:0001819	synonymous_variant	7042				activation of protein kinase activity|angiogenesis|cardiac epithelial to mesenchymal transition|cardiac muscle cell proliferation|cardioblast differentiation|catagen|cell cycle arrest|cell death|cell growth|cell-cell junction organization|cell-cell signaling|collagen fibril organization|dopamine biosynthetic process|embryonic digestive tract development|eye development|glial cell migration|hair follicle morphogenesis|hemopoiesis|menstrual cycle phase|negative regulation of alkaline phosphatase activity|negative regulation of cell growth|negative regulation of epithelial cell proliferation|negative regulation of immune response|negative regulation of macrophage cytokine production|neuron development|neutrophil chemotaxis|odontogenesis|pathway-restricted SMAD protein phosphorylation|platelet activation|platelet degranulation|positive regulation of cardioblast differentiation|positive regulation of catagen|positive regulation of cell adhesion mediated by integrin|positive regulation of cell cycle|positive regulation of cell division|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of epithelial cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of heart contraction|positive regulation of immune response|positive regulation of integrin biosynthetic process|positive regulation of neuron apoptosis|positive regulation of ossification|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein secretion|positive regulation of stress-activated MAPK cascade|regulation of transforming growth factor-beta2 production|response to hypoxia|response to progesterone stimulus|salivary gland morphogenesis|SMAD protein import into nucleus|somatic stem cell division|transforming growth factor beta receptor signaling pathway	axon|extracellular matrix|extracellular space|neuronal cell body|platelet alpha granule lumen	beta-amyloid binding|cytokine activity|growth factor activity|protein heterodimerization activity|protein homodimerization activity|receptor signaling protein serine/threonine kinase activity|type II transforming growth factor beta receptor binding	g.chr1:218578521G>A	M19154	CCDS1521.1, CCDS44318.1	1q41	2014-01-30			ENSG00000092969	ENSG00000092969		"Endogenous ligands"	11768	protein-coding gene	gene with protein product	"prepro-transforming growth factor beta-2"	190220					Standard	NM_003238		Approved		uc001hln.3	P61812	OTTHUMG00000039521	ENST00000366930.4:c.357G>A	1.37:g.218578521G>A						TGFB2_ENST00000366930.4_Silent_p.P119P	p.P147P	NM_001135599.2	NP_001129071.1	P61812	TGFB2_HUMAN		all cancers(67;0.0459)|OV - Ovarian serous cystadenocarcinoma(81;0.049)|GBM - Glioblastoma multiforme(131;0.0776)	3	908	+			119					B4DKC5|P08112|Q15579|Q15581|Q4VAV9	Silent	SNP	ENST00000366930.4	37	c.441G>A	CCDS1521.1																																																																																				0.403	TGFB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095359.2	NM_003238		86	102	0	0	0	1	0	86	102					A	218578521	G	A	218578521	2	1	435	1	0	0	0	0	0	0	0	1	15815	1074	38	1		1	TGFB2	1	218578521	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	1727786	218578521	30672100	859	21784											
EPRS	2058	broad.mit.edu	37	chr1	220156131	220156131	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacctgtttcactagtaggaCgaatggcaattggttctgcc	9	12	10	10	1	2	0	1	0	1	0	2	2	2	1	2	3	1	4	2	3	4	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:220156131C>T	ENST00000366923.3	-	23	3625	c.3356G>A	c.(3355-3357)cGt>cAt	p.R1119H		NM_004446.2	NP_004437.2	P07814	SYEP_HUMAN	glutamyl-prolyl-tRNA synthetase	1119	Proline--tRNA ligase.				cellular response to interferon-gamma (GO:0071346)|gene expression (GO:0010467)|glutamyl-tRNA aminoacylation (GO:0006424)|negative regulation of translation (GO:0017148)|prolyl-tRNA aminoacylation (GO:0006433)|protein complex assembly (GO:0006461)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|GAIT complex (GO:0097452)|membrane (GO:0016020)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|glutamate-tRNA ligase activity (GO:0004818)|proline-tRNA ligase activity (GO:0004827)|RNA stem-loop binding (GO:0035613)			breast(2)|endometrium(11)|kidney(2)|large_intestine(13)|lung(24)|ovary(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(3)	63				GBM - Glioblastoma multiforme(131;0.0735)	L-Proline(DB00172)	ACTAGTAGGACGAATGGCAAT	0.403																																						ENST00000366923.3																			0				breast(2)|endometrium(11)|kidney(2)|large_intestine(13)|lung(24)|ovary(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(3)	63						c.(3355-3357)cGt>cAt		glutamyl-prolyl-tRNA synthetase	L-Glutamic Acid(DB00142)|L-Proline(DB00172)						151	149	150					1																	220156131		2203	4300	6503	SO:0001583	missense	2058				glutamyl-tRNA aminoacylation|prolyl-tRNA aminoacylation|protein complex assembly	cytosol|soluble fraction	ATP binding|glutamate-tRNA ligase activity|proline-tRNA ligase activity|protein binding|RNA binding	g.chr1:220156131C>T	X54326	CCDS31027.1	1q41	2011-07-01			ENSG00000136628	ENSG00000136628	6.1.1.15, 6.1.1.17	"Aminoacyl tRNA synthetases / Class I", "Aminoacyl tRNA synthetases / Class II"	3418	protein-coding gene	gene with protein product	"glutamate tRNA ligase", "proline tRNA ligase"	138295		QPRS, QARS		1988429	Standard	NM_004446		Approved	EARS, PARS, GLUPRORS	uc001hly.1	P07814	OTTHUMG00000037433	ENST00000366923.3:c.3356G>A	1.37:g.220156131C>T	ENSP00000355890:p.Arg1119His						p.R1119H	NM_004446.2	NP_004437.2	P07814	SYEP_HUMAN		GBM - Glioblastoma multiforme(131;0.0735)	23	3625	-			1119			Prolyl-tRNA synthetase.		A0AVA9|B9EGH3|Q05BP6|Q05DF8|Q5DSM1|Q5H9S5|Q6PD57|Q86X73	Missense_Mutation	SNP	ENST00000366923.3	37	c.3356G>A	CCDS31027.1	.	.	.	.	.	.	.	.	.	.	C	34	5.407226	0.96051	.	.	ENSG00000136628	ENST00000366923	T	0.73469	-0.75	5.66	5.66	0.87406	Aminoacyl-tRNA synthetase, class II (1);Aminoacyl-tRNA synthetase, class II (G/ H/ P/ S), conserved domain (1);	0.099482	0.64402	D	0.000002	D	0.93549	0.7941	H	0.99800	4.79	0.58432	D	0.999995	D	0.89917	1.0	D	0.97110	1.0	D	0.96372	0.9274	10	0.87932	D	0	-6.8977	19.7873	0.96444	0.0:1.0:0.0:0.0	.	1119	P07814	SYEP_HUMAN	H	1119	ENSP00000355890:R1119H	ENSP00000355890:R1119H	R	-	2	0	EPRS	218222754	1.000000	0.71417	0.998000	0.56505	0.999000	0.98932	7.591000	0.82666	2.683000	0.91414	0.644000	0.83932	CGT		0.403	EPRS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091133.2	NM_004446		38	70	0	0	0	1	0	38	70					T	220156131	C	T	220156131	3	4	435	1	0	0	0	0	1	0	0	0	5191	536	19	1	1222	1	EPRS	1	220156131	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	1577610	220156131	29094490	860	21785											
RAB3GAP2	25782	broad.mit.edu	37	chr1	220363470	220363470	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actaggtgcatatccttggcTcgttcactcttcttatcact	7	16	6	12	1	4	0	2	0	2	0	6	0	5	0	1	2	1	3	1	2	3	6			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:220363470T>C	ENST00000358951.2	-	16	1766	c.1650A>G	c.(1648-1650)cgA>cgG	p.R550R		NM_012414.3	NP_036546.2	Q9H2M9	RBGPR_HUMAN	RAB3 GTPase activating protein subunit 2 (non-catalytic)	550					establishment of protein localization to endoplasmic reticulum membrane (GO:0097051)|intracellular protein transport (GO:0006886)|positive regulation of catalytic activity (GO:0043085)|positive regulation of endoplasmic reticulum tubular network organization (GO:1903373)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Rab GTPase activity (GO:0032851)|regulation of GTPase activity (GO:0043087)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	enzyme activator activity (GO:0008047)|enzyme regulator activity (GO:0030234)|GTPase activator activity (GO:0005096)|protein heterodimerization activity (GO:0046982)|Rab GTPase binding (GO:0017137)			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(1)	39				GBM - Glioblastoma multiforme(131;0.0443)		TATCCTTGGCTCGTTCACTCT	0.318																																						ENST00000358951.2																			0				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(1)	39						c.(1648-1650)cgA>cgG		RAB3 GTPase activating protein subunit 2 (non-catalytic)							110	108	109					1																	220363470		2203	4299	6502	SO:0001819	synonymous_variant	25782				intracellular protein transport	cytoplasm|soluble fraction	GTPase activator activity|protein heterodimerization activity	g.chr1:220363470T>C	AB020646	CCDS31028.1	1q41	2014-03-03			ENSG00000118873	ENSG00000118873			17168	protein-coding gene	gene with protein product		609275				15696165, 16532399, 24482476	Standard	NM_012414		Approved	RAB3-GAP150, KIAA0839, DKFZP434D245, SPG69	uc010puk.1	Q9H2M9	OTTHUMG00000037139	ENST00000358951.2:c.1650A>G	1.37:g.220363470T>C							p.R550R	NM_012414.3	NP_036546.2	Q9H2M9	RBGPR_HUMAN		GBM - Glioblastoma multiforme(131;0.0443)	16	1766	-			550					A6H8V0|O75872|Q9HAB0|Q9UFJ7|Q9UQ15	Silent	SNP	ENST00000358951.2	37	c.1650A>G	CCDS31028.1																																																																																				0.318	RAB3GAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090205.2	NM_012414		20	23	0	0	0	1	0	20	23					C	220363470	T	C	220363470	2	2	435	1	0	0	0	0	0	0	0	1	12936	1538	54	4		4	RAB3GAP2	1	220363470	Silent	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	207339	220363470	28887151	861	21786											
HLX	3142	broad.mit.edu	37	chr1	221057870	221057870	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtgggagcagcggcggcggcGgcaatagtttcagcttcagc	7	7	17	10	4	2	0	2	0	0	0	2	1	2	1	0	5	4	4	0	5	2	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:221057870G>A	ENST00000366903.6	+	4	2792	c.1291G>A	c.(1291-1293)Ggc>Agc	p.G431S	HLX_ENST00000549319.1_Missense_Mutation_p.G217S	NM_021958.3	NP_068777.1	Q14774	HLX_HUMAN	H2.0-like homeobox	431	Ser-rich.				cell differentiation (GO:0030154)|embryonic digestive tract morphogenesis (GO:0048557)|enteric nervous system development (GO:0048484)|liver development (GO:0001889)|multicellular organismal development (GO:0007275)|negative regulation of T-helper 2 cell differentiation (GO:0045629)|positive regulation of cell proliferation (GO:0008284)|positive regulation of organ growth (GO:0046622)|positive regulation of T-helper 1 cell differentiation (GO:0045627)|regulation of transcription, DNA-templated (GO:0006355)|skeletal muscle tissue development (GO:0007519)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(9)|lung(11)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	32				GBM - Glioblastoma multiforme(131;0.00914)		cggcggcggcggcaatagttt	0.637																																						ENST00000366903.6																			0				breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(9)|lung(11)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(1291-1293)Ggc>Agc		H2.0-like homeobox							19	19	19					1																	221057870		2201	4299	6500	SO:0001583	missense	3142				cell differentiation	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr1:221057870G>A	BC033808	CCDS1527.1	1q41	2011-06-20	2007-07-26	2007-07-26	ENSG00000136630	ENSG00000136630		"Homeoboxes / ANTP class : NKL subclass"	4978	protein-coding gene	gene with protein product		142995	"H2.0 (Drosophila)-like homeo box 1", "H2.0-like homeobox 1 (Drosophila)", "H2.0-like homeobox 1"	HLX1		1676597, 7806220	Standard	NM_021958		Approved	HB24	uc001hmv.4	Q14774	OTTHUMG00000037352	ENST00000366903.6:c.1291G>A	1.37:g.221057870G>A	ENSP00000355870:p.Gly431Ser					HLX_ENST00000549319.1_Missense_Mutation_p.G217S	p.G431S	NM_021958.3	NP_068777.1	Q14774	HLX_HUMAN		GBM - Glioblastoma multiforme(131;0.00914)	4	2792	+			431			Ser-rich.		B2R8A8|Q15988|Q59HE7|Q9NZ75	Missense_Mutation	SNP	ENST00000366903.6	37	c.1291G>A	CCDS1527.1	.	.	.	.	.	.	.	.	.	.	G	11.49	1.655481	0.29425	.	.	ENSG00000136630	ENST00000366903;ENST00000549319	D;D	0.91464	-2.59;-2.85	3.72	-1.62	0.08372	.	0.370118	0.19920	N	0.103108	T	0.74450	0.3718	N	0.14661	0.345	0.09310	N	1	B	0.13145	0.007	B	0.13407	0.009	T	0.60722	-0.7207	10	0.07990	T	0.79	-14.9161	5.136	0.14935	0.2965:0.2399:0.4636:0.0	.	431	Q14774	HLX_HUMAN	S	431;217	ENSP00000355870:G431S;ENSP00000449882:G217S	ENSP00000355870:G431S	G	+	1	0	HLX	219124493	0.007000	0.16637	0.002000	0.10522	0.008000	0.06430	0.301000	0.19174	-0.199000	0.10317	-0.350000	0.07774	GGC		0.637	HLX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090902.3	NM_021958		8	8	0	0	0	1	0	8	8					A	221057870	G	A	221057870	3	1	435	1	0	0	0	0	1	0	0	0	7216	1116	39	2	1305	2	HLX	1	221057870	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	694400	221057870	28192751	862	21787											
HLX	3142	broad.mit.edu	37	chr1	221057957	221057957	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagccttggcggcggcggcGcctcggagcttctccctgca	3	7	15	16	5	1	0	0	0	1	0	3	1	1	1	3	5	3	3	3	5	0	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:221057957G>A	ENST00000366903.6	+	4	2879	c.1378G>A	c.(1378-1380)Gcc>Acc	p.A460T	HLX_ENST00000549319.1_Missense_Mutation_p.A246T	NM_021958.3	NP_068777.1	Q14774	HLX_HUMAN	H2.0-like homeobox	460					cell differentiation (GO:0030154)|embryonic digestive tract morphogenesis (GO:0048557)|enteric nervous system development (GO:0048484)|liver development (GO:0001889)|multicellular organismal development (GO:0007275)|negative regulation of T-helper 2 cell differentiation (GO:0045629)|positive regulation of cell proliferation (GO:0008284)|positive regulation of organ growth (GO:0046622)|positive regulation of T-helper 1 cell differentiation (GO:0045627)|regulation of transcription, DNA-templated (GO:0006355)|skeletal muscle tissue development (GO:0007519)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(9)|lung(11)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	32				GBM - Glioblastoma multiforme(131;0.00914)		cggcggcggcGCCTCGGAGCT	0.657																																						ENST00000366903.6																			0				breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(9)|lung(11)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(1378-1380)Gcc>Acc		H2.0-like homeobox							9	12	11					1																	221057957		2196	4278	6474	SO:0001583	missense	3142				cell differentiation	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr1:221057957G>A	BC033808	CCDS1527.1	1q41	2011-06-20	2007-07-26	2007-07-26	ENSG00000136630	ENSG00000136630		"Homeoboxes / ANTP class : NKL subclass"	4978	protein-coding gene	gene with protein product		142995	"H2.0 (Drosophila)-like homeo box 1", "H2.0-like homeobox 1 (Drosophila)", "H2.0-like homeobox 1"	HLX1		1676597, 7806220	Standard	NM_021958		Approved	HB24	uc001hmv.4	Q14774	OTTHUMG00000037352	ENST00000366903.6:c.1378G>A	1.37:g.221057957G>A	ENSP00000355870:p.Ala460Thr					HLX_ENST00000549319.1_Missense_Mutation_p.A246T	p.A460T	NM_021958.3	NP_068777.1	Q14774	HLX_HUMAN		GBM - Glioblastoma multiforme(131;0.00914)	4	2879	+			460					B2R8A8|Q15988|Q59HE7|Q9NZ75	Missense_Mutation	SNP	ENST00000366903.6	37	c.1378G>A	CCDS1527.1	.	.	.	.	.	.	.	.	.	.	G	13.40	2.226743	0.39399	.	.	ENSG00000136630	ENST00000366903;ENST00000549319	D;D	0.91407	-2.6;-2.84	4.78	-8.9	0.00782	.	2.537890	0.01707	N	0.027484	T	0.74612	0.3739	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.69316	-0.5177	10	0.10902	T	0.67	-2.219	1.0416	0.01560	0.2775:0.0969:0.2452:0.3804	.	460	Q14774	HLX_HUMAN	T	460;246	ENSP00000355870:A460T;ENSP00000449882:A246T	ENSP00000355870:A460T	A	+	1	0	HLX	219124580	0.000000	0.05858	0.000000	0.03702	0.056000	0.15407	-1.425000	0.02446	-1.774000	0.01288	-1.036000	0.02392	GCC		0.657	HLX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090902.3	NM_021958		5	5	0	0	0	1	0	5	5					A	221057957	G	A	221057957	3	1	435	1	0	0	0	0	1	0	0	0	7216	1087	38	1	1392	1	HLX	1	221057957	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	87	221057957	28192664	863	21788											
C1orf65	164127	broad.mit.edu	37	chr1	223566990	223566990	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggagagcgaagctggggcgtGctggctgcacccgcactgtt	6	7	17	11	3	0	1	0	0	0	1	0	3	0	1	1	4	4	6	1	4	1	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:223566990G>A	ENST00000366875.3	+	1	276	c.173G>A	c.(172-174)tGc>tAc	p.C58Y		NM_152610.2	NP_689823.2	Q8N715	CC185_HUMAN		58										breast(4)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|skin(3)	29				GBM - Glioblastoma multiforme(131;0.0704)		GCTGGGGCGTGCTGGCTGCAC	0.736																																						ENST00000366875.3																			0				breast(4)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|skin(3)	29						c.(172-174)tGc>tAc		chromosome 1 open reading frame 65							8	10	9					1																	223566990		1946	4016	5962	SO:0001583	missense	164127							g.chr1:223566990G>A																												ENST00000366875.3:c.173G>A	1.37:g.223566990G>A	ENSP00000355840:p.Cys58Tyr						p.C58Y	NM_152610.2	NP_689823.2	Q8N715	CA065_HUMAN		GBM - Glioblastoma multiforme(131;0.0704)	1	276	+			58					Q8N746|Q8NA93	Missense_Mutation	SNP	ENST00000366875.3	37	c.173G>A	CCDS1537.1	.	.	.	.	.	.	.	.	.	.	G	9.042	0.989939	0.18966	.	.	ENSG00000178395	ENST00000366875	T	0.18502	2.21	3.38	0.0842	0.14436	.	.	.	.	.	T	0.07593	0.0191	N	0.08118	0	0.09310	N	1	B	0.24533	0.105	B	0.14578	0.011	T	0.31194	-0.9952	9	0.56958	D	0.05	.	5.5233	0.16945	0.0:0.4757:0.4019:0.1224	.	58	Q8N715	CA065_HUMAN	Y	58	ENSP00000355840:C58Y	ENSP00000355840:C58Y	C	+	2	0	C1orf65	221633613	0.000000	0.05858	0.030000	0.17652	0.069000	0.16628	-0.431000	0.06965	0.154000	0.19237	-0.256000	0.11100	TGC		0.736	C1orf65-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092718.1			8	8	0	0	0	1	0	8	8					A	223566990	G	A	223566990	3	1	435	1	0	0	0	0	1	0	0	0	2055	1319	46	3	175	3	C1orf65	1	223566990	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	2509033	223566990	25683631	864	21789											
CAPN2	824	broad.mit.edu	37	chr1	223943318	223943318	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cggcagaggaagatgggcgaGgacatgcacaccatcggctt	11	5	15	10	3	0	2	0	0	0	2	1	5	0	4	1	5	1	3	1	5	1	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:223943318G>T	ENST00000295006.5	+	10	1581	c.1272G>T	c.(1270-1272)gaG>gaT	p.E424D	CAPN2_ENST00000433674.2_Missense_Mutation_p.E346D	NM_001748.4	NP_001739	P17655	CAN2_HUMAN	calpain 2, (m/II) large subunit	424	Domain III.				blastocyst development (GO:0001824)|cellular response to amino acid stimulus (GO:0071230)|myoblast fusion (GO:0007520)|protein autoprocessing (GO:0016540)|proteolysis (GO:0006508)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of cytoskeleton organization (GO:0051493)|response to hypoxia (GO:0001666)	chromatin (GO:0000785)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)|pseudopodium (GO:0031143)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|cysteine-type peptidase activity (GO:0008234)|cytoskeletal protein binding (GO:0008092)			breast(3)|endometrium(1)|kidney(1)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|stomach(3)	29				GBM - Glioblastoma multiforme(131;0.109)		AGATGGGCGAGGACATGCACA	0.617																																						ENST00000295006.5																			0				breast(3)|endometrium(1)|kidney(1)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|stomach(3)	29						c.(1270-1272)gaG>gaT		calpain 2, (m/II) large subunit							120	95	103					1																	223943318		2203	4300	6503	SO:0001583	missense	824				proteolysis	cytoplasm|plasma membrane		g.chr1:223943318G>T	J04700	CCDS31035.1, CCDS53478.1	1q41-q42	2013-01-10			ENSG00000162909	ENSG00000162909	3.4.22.52	"EF-hand domain containing"	1479	protein-coding gene	gene with protein product		114230				2852952, 2539381	Standard	NM_001748		Approved	mCANP, CANPml, CANPL2	uc001hob.4	P17655	OTTHUMG00000037376	ENST00000295006.5:c.1272G>T	1.37:g.223943318G>T	ENSP00000295006:p.Glu424Asp					CAPN2_ENST00000433674.2_Missense_Mutation_p.E346D	p.E424D	NM_001748.4	NP_001739.2	P17655	CAN2_HUMAN		GBM - Glioblastoma multiforme(131;0.109)	10	1581	+			424			Domain III.		A6NDG7|B7ZA96|E7ES58|Q16738|Q6PJT3|Q8WU26|Q9HBB1	Missense_Mutation	SNP	ENST00000295006.5	37	c.1272G>T	CCDS31035.1	.	.	.	.	.	.	.	.	.	.	G	16.11	3.031160	0.54790	.	.	ENSG00000162909	ENST00000433674;ENST00000295006;ENST00000366869	D;D	0.88586	-2.4;-2.4	5.05	5.05	0.67936	Peptidase C2, calpain, large subunit, domain III (2);Peptidase C2, calpain, domain III (1);	0.220935	0.46442	D	0.000281	D	0.88955	0.6578	M	0.66439	2.03	0.80722	D	1	B;B	0.20780	0.005;0.048	B;B	0.28784	0.015;0.094	D	0.85342	0.1096	10	0.30854	T	0.27	.	18.7897	0.91968	0.0:0.0:1.0:0.0	.	346;424	B7ZA96;P17655	.;CAN2_HUMAN	D	346;424;453	ENSP00000413158:E346D;ENSP00000295006:E424D	ENSP00000295006:E424D	E	+	3	2	CAPN2	222009941	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.239000	0.51360	2.507000	0.84556	0.563000	0.77884	GAG		0.617	CAPN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090973.1	NM_001748		4	19	1	0	0.00024832	1	0.000253518	4	19					T	223943318	G	T	223943318	3	4	435	1	0	0	0	0	1	0	0	0	2627	991	35	5	1317	5	CAPN2	1	223943318	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	376328	223943318	25307303	865	21790											
CAPN2	824	broad.mit.edu	37	chr1	223962541	223962541	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttccttcctcacagtggctCtgtttctcagtactttgaag	6	17	7	11	0	3	1	2	1	2	0	6	1	5	1	2	1	1	3	2	1	2	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:223962541C>A	ENST00000295006.5	+	21	2394	c.2085C>A	c.(2083-2085)ctC>ctA	p.L695L	CAPN2_ENST00000474026.1_3'UTR|CAPN2_ENST00000433674.2_Silent_p.L617L	NM_001748.4	NP_001739	P17655	CAN2_HUMAN	calpain 2, (m/II) large subunit	695	Domain IV.|EF-hand 3. {ECO:0000255|PROSITE- ProRule:PRU00448}.				blastocyst development (GO:0001824)|cellular response to amino acid stimulus (GO:0071230)|myoblast fusion (GO:0007520)|protein autoprocessing (GO:0016540)|proteolysis (GO:0006508)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of cytoskeleton organization (GO:0051493)|response to hypoxia (GO:0001666)	chromatin (GO:0000785)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)|pseudopodium (GO:0031143)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|cysteine-type peptidase activity (GO:0008234)|cytoskeletal protein binding (GO:0008092)			breast(3)|endometrium(1)|kidney(1)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|stomach(3)	29				GBM - Glioblastoma multiforme(131;0.109)		CACAGTGGCTCTGTTTCTCAG	0.358																																						ENST00000295006.5																			0				breast(3)|endometrium(1)|kidney(1)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|stomach(3)	29						c.(2083-2085)ctC>ctA		calpain 2, (m/II) large subunit							83	85	85					1																	223962541		2202	4300	6502	SO:0001819	synonymous_variant	824				proteolysis	cytoplasm|plasma membrane		g.chr1:223962541C>A	J04700	CCDS31035.1, CCDS53478.1	1q41-q42	2013-01-10			ENSG00000162909	ENSG00000162909	3.4.22.52	"EF-hand domain containing"	1479	protein-coding gene	gene with protein product		114230				2852952, 2539381	Standard	NM_001748		Approved	mCANP, CANPml, CANPL2	uc001hob.4	P17655	OTTHUMG00000037376	ENST00000295006.5:c.2085C>A	1.37:g.223962541C>A						CAPN2_ENST00000433674.2_Silent_p.L617L|CAPN2_ENST00000474026.1_3'UTR	p.L695L	NM_001748.4	NP_001739.2	P17655	CAN2_HUMAN		GBM - Glioblastoma multiforme(131;0.109)	21	2394	+			695			Domain IV.|EF-hand 3.		A6NDG7|B7ZA96|E7ES58|Q16738|Q6PJT3|Q8WU26|Q9HBB1	Silent	SNP	ENST00000295006.5	37	c.2085C>A	CCDS31035.1																																																																																				0.358	CAPN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090973.1	NM_001748		21	32	1	0	3.51602e-12	1	3.7986e-12	21	32					A	223962541	C	A	223962541	2	1	435	1	0	0	0	0	0	0	0	1	2627	900	32	5		5	CAPN2	1	223962541	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	19223	223962541	25288080	866	21791											
TP53BP2	7159	broad.mit.edu	37	chr1	223991909	223991909	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcttagtctcttctgttccaCgtggcctttaagtgctctca	5	16	8	12	1	3	0	1	0	3	0	6	0	4	0	2	1	1	3	2	1	2	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:223991909C>T	ENST00000343537.7	-	6	907	c.616G>A	c.(616-618)Gtg>Atg	p.V206M	TP53BP2_ENST00000391878.2_Missense_Mutation_p.V77M|TP53BP2_ENST00000498843.1_5'Flank	NM_001031685.2	NP_001026855.2	Q13625	ASPP2_HUMAN	tumor protein p53 binding protein 2	200					cell cycle (GO:0007049)|central nervous system development (GO:0007417)|embryo development ending in birth or egg hatching (GO:0009792)|heart development (GO:0007507)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|negative regulation of cell cycle (GO:0045786)|positive regulation of signal transduction (GO:0009967)|response to ionizing radiation (GO:0010212)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	identical protein binding (GO:0042802)|NF-kappaB binding (GO:0051059)|SH3/SH2 adaptor activity (GO:0005070)			NS(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(2)	29				GBM - Glioblastoma multiforme(131;0.0958)		TTCTGTTCCACGTGGCCTTTA	0.378																																						ENST00000391878.2																			0				NS(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(2)	29						c.(229-231)Gtg>Atg		tumor protein p53 binding protein, 2							219	226	223					1																	223991909		2203	4300	6503	SO:0001583	missense	7159				apoptosis|cell cycle|induction of apoptosis|negative regulation of cell cycle|signal transduction	nucleus|perinuclear region of cytoplasm	NF-kappaB binding|protein binding|SH3 domain binding|SH3/SH2 adaptor activity	g.chr1:223991909C>T	U09582	CCDS1538.1, CCDS44319.1	1q41	2014-06-24	2014-06-24		ENSG00000143514	ENSG00000143514		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "Ankyrin repeat domain containing"	12000	protein-coding gene	gene with protein product		602143	"tumor protein p53-binding protein, 2"			8668206, 8016121	Standard	NM_005426		Approved	PPP1R13A, ASPP2, 53BP2	uc010pvb.2	Q13625	OTTHUMG00000037379	ENST00000343537.7:c.616G>A	1.37:g.223991909C>T	ENSP00000341957:p.Val206Met					TP53BP2_ENST00000343537.7_Missense_Mutation_p.V206M	p.V77M	NM_005426.2	NP_005417.1	Q13625	ASPP2_HUMAN		GBM - Glioblastoma multiforme(131;0.0958)	7	997	-			200					B4DG66|Q12892|Q86X75|Q96KQ3	Missense_Mutation	SNP	ENST00000343537.7	37	c.229G>A	CCDS44319.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	23.9|23.9	4.471199|4.471199	0.84533|0.84533	.|.	.|.	ENSG00000143514|ENSG00000143514	ENST00000494100|ENST00000391878;ENST00000343537	.|T;T	.|0.34072	.|1.38;1.38	5.35|5.35	5.35|5.35	0.76521|0.76521	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	.|T	.|0.64148	.|0.2572	M|M	0.79475|0.79475	2.455|2.455	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.85130	.|0.997;0.995	.|T	.|0.67565	.|-0.5638	.|10	.|0.87932	.|D	.|0	.|.	19.4318|19.4318	0.94772|0.94772	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|206;200	.|B4DG66;Q13625	.|.;ASPP2_HUMAN	.|M	-1|77;206	.|ENSP00000375750:V77M;ENSP00000341957:V206M	.|ENSP00000341957:V206M	.|V	-|-	.|1	.|0	TP53BP2|TP53BP2	222058532|222058532	1.000000|1.000000	0.71417|0.71417	0.992000|0.992000	0.48379|0.48379	0.957000|0.957000	0.61999|0.61999	7.776000|7.776000	0.85560|0.85560	2.668000|2.668000	0.90789|0.90789	0.591000|0.591000	0.81541|0.81541	.|GTG		0.378	TP53BP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090985.3	NM_001031685, NM_005426		51	101	0	0	0	1	0	51	101					T	223991909	C	T	223991909	3	4	435	1	0	0	0	0	1	0	0	0	16381	536	19	1	2840	1	TP53BP2	1	223991909	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	29368	223991909	25258712	867	21792											
DEGS1	8560	broad.mit.edu	37	chr1	224377662	224377662	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agggctggttcttctgtaccGctttcagaaagtttatatgg	8	15	11	7	1	3	1	1	0	2	1	3	1	3	1	1	3	1	5	1	3	4	7			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:224377662G>A	ENST00000323699.4	+	2	632	c.466G>A	c.(466-468)Gct>Act	p.A156T	DEGS1_ENST00000465848.1_3'UTR|DEGS1_ENST00000391877.3_Missense_Mutation_p.A156T	NM_003676.3	NP_003667.1	O15121	DEGS1_HUMAN	delta(4)-desaturase, sphingolipid 1	156					small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|unsaturated fatty acid biosynthetic process (GO:0006636)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|mitochondrion (GO:0005739)	electron carrier activity (GO:0009055)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen (GO:0016705)			breast(1)|kidney(3)|large_intestine(2)|lung(4)	10	Breast(184;0.193)			GBM - Glioblastoma multiforme(131;0.00643)		CTTCTGTACCGCTTTCAGAAA	0.423																																						ENST00000323699.4																			0				breast(1)|kidney(3)|large_intestine(2)|lung(4)	10						c.(466-468)Gct>Act		delta(4)-desaturase, sphingolipid 1							215	208	210					1																	224377662		2203	4300	6503	SO:0001583	missense	8560				sphingolipid metabolic process|unsaturated fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction	electron carrier activity|protein binding|sphingolipid delta-4 desaturase activity	g.chr1:224377662G>A	AF002668	CCDS1540.1	1q42.11	2013-09-02	2011-12-09	2004-12-14	ENSG00000143753	ENSG00000143753		"Fatty acid desaturases"	13709	protein-coding gene	gene with protein product	"sphingolipid delta(4)-desaturase 1", "dihydroceramide desaturase 1"	615843	"degenerative spermatocyte homolog 1, lipid desaturase (Drosophila)"			9188692, 20105137	Standard	NM_003676		Approved	MLD, Des-1, DES1, FADS7, DEGS-1	uc001hoj.3	O15121	OTTHUMG00000037496	ENST00000323699.4:c.466G>A	1.37:g.224377662G>A	ENSP00000316476:p.Ala156Thr					DEGS1_ENST00000391877.3_Missense_Mutation_p.A156T|DEGS1_ENST00000465848.1_3'UTR	p.A156T	NM_003676.3	NP_003667.1	O15121	DEGS1_HUMAN		GBM - Glioblastoma multiforme(131;0.00643)	2	632	+	Breast(184;0.193)		156						Missense_Mutation	SNP	ENST00000323699.4	37	c.466G>A	CCDS1540.1	.	.	.	.	.	.	.	.	.	.	G	3.539	-0.094201	0.07053	.	.	ENSG00000143753	ENST00000415210;ENST00000323699;ENST00000391877	T;T;T	0.17528	2.27;2.27;2.27	6.02	1.13	0.20643	Fatty acid desaturase, type 1 (1);	0.293557	0.43579	N	0.000552	T	0.03651	0.0104	N	0.00960	-1.095	0.09310	N	1	B;B	0.06786	0.0;0.001	B;B	0.04013	0.001;0.001	T	0.36311	-0.9753	10	0.16896	T	0.51	.	2.2083	0.03941	0.407:0.3239:0.1676:0.1015	.	156;135	O15121;E7EMA0	DEGS1_HUMAN;.	T	135;156;156	ENSP00000400545:A135T;ENSP00000316476:A156T;ENSP00000375749:A156T	ENSP00000316476:A156T	A	+	1	0	DEGS1	222444285	0.195000	0.23338	0.289000	0.24876	0.969000	0.65631	2.102000	0.41796	0.175000	0.19841	-0.362000	0.07510	GCT		0.423	DEGS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091285.2			61	85	0	0	0	1	0	61	85					A	224377662	G	A	224377662	3	1	435	1	0	0	0	0	1	0	0	0	4422	1087	38	1	472	1	DEGS1	1	224377662	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	385753	224377662	24872959	868	21793											
NVL	4931	broad.mit.edu	37	chr1	224482013	224482013	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	atacctaggcatatttctcgGtcgaaccttcccgcacgtct	8	12	7	14	4	2	0	0	0	2	0	5	1	3	0	3	2	2	2	3	2	4	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:224482013G>A	ENST00000281701.6	-	12	1540	c.1281C>T	c.(1279-1281)gaC>gaT	p.D427D	NVL_ENST00000361463.3_Silent_p.D321D|NVL_ENST00000482491.1_Silent_p.D151D|NVL_ENST00000469075.1_Silent_p.D336D|NVL_ENST00000340871.4_Silent_p.D238D|NVL_ENST00000391875.2_Silent_p.D321D	NM_002533.3	NP_002524.2	O15381	NVL_HUMAN	nuclear VCP-like	427						membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(13)|ovary(1)|prostate(1)|skin(4)|soft_tissue(1)|urinary_tract(1)	42				GBM - Glioblastoma multiforme(131;0.00501)		ATATTTCTCGGTCGAACCTTC	0.448																																						ENST00000281701.6																			0				breast(3)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(13)|ovary(1)|prostate(1)|skin(4)|soft_tissue(1)|urinary_tract(1)	42						c.(1279-1281)gaC>gaT		nuclear VCP-like							101	97	98					1																	224482013		2203	4300	6503	SO:0001819	synonymous_variant	4931					aggresome|cytoplasm|nucleolus	ATP binding|nucleoside-triphosphatase activity	g.chr1:224482013G>A	U78772	CCDS1541.1, CCDS1542.1, CCDS58062.1, CCDS58063.1	1q41-q42.2	2010-04-21			ENSG00000143748	ENSG00000143748		"ATPases / AAA-type"	8070	protein-coding gene	gene with protein product	"Nuclear valosin-containing protein-like", "nuclear VCP-like protein"	602426				9286697	Standard	NM_002533		Approved		uc001hok.3	O15381	OTTHUMG00000037536	ENST00000281701.6:c.1281C>T	1.37:g.224482013G>A						NVL_ENST00000482491.1_Silent_p.D151D|NVL_ENST00000340871.4_Silent_p.D238D|NVL_ENST00000361463.3_Silent_p.D321D|NVL_ENST00000469075.1_Silent_p.D336D|NVL_ENST00000391875.2_Silent_p.D321D	p.D427D	NM_002533.3	NP_002524.2	O15381	NVL_HUMAN		GBM - Glioblastoma multiforme(131;0.00501)	12	1540	-			427					B4DMC4|B4DP98|Q96EM7	Silent	SNP	ENST00000281701.6	37	c.1281C>T	CCDS1541.1	.	.	.	.	.	.	.	.	.	.	G	10.80	1.451918	0.26074	.	.	ENSG00000143748	ENST00000469968	.	.	.	5.65	1.55	0.23275	.	.	.	.	.	T	0.55273	0.1910	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.44298	-0.9337	4	.	.	.	-17.6266	7.7699	0.29001	0.2517:0.1075:0.6408:0.0	.	.	.	.	S	310	.	.	P	-	1	0	NVL	222548636	1.000000	0.71417	0.999000	0.59377	0.980000	0.70556	2.057000	0.41365	0.097000	0.17492	0.491000	0.48974	CCG		0.448	NVL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000091453.2	NM_002533		24	38	0	0	0	1	0	24	38					A	224482013	G	A	224482013	2	1	435	1	0	0	0	0	0	0	0	1	10780	1252	44	3		3	NVL	1	224482013	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	104351	224482013	24768608	869	21794											
EPHX1	2052	broad.mit.edu	37	chr1	226026519	226026519	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atggcctgagcgatgagcacGtttttgaagtcatctgccct	8	12	11	10	2	2	3	1	3	1	0	2	4	2	3	2	1	3	2	2	1	1	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:226026519G>A	ENST00000366837.4	+	4	725	c.529G>A	c.(529-531)Gtt>Att	p.V177I	RP11-285F7.2_ENST00000424332.1_RNA|EPHX1_ENST00000272167.5_Missense_Mutation_p.V177I	NM_000120.3	NP_000111.1	P07099	HYEP_HUMAN	epoxide hydrolase 1, microsomal (xenobiotic)	177					aromatic compound catabolic process (GO:0019439)|response to toxic substance (GO:0009636)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	cis-stilbene-oxide hydrolase activity (GO:0033961)|epoxide hydrolase activity (GO:0004301)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(7)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	28	Breast(184;0.197)					CGATGAGCACGTTTTTGAAGT	0.552																																						ENST00000366837.4																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(7)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	28						c.(529-531)Gtt>Att		epoxide hydrolase 1, microsomal (xenobiotic)							129	113	118					1																	226026519		2203	4300	6503	SO:0001583	missense	2052				aromatic compound catabolic process|response to toxin	endoplasmic reticulum membrane|integral to membrane|microsome	cis-stilbene-oxide hydrolase activity|epoxide hydrolase activity	g.chr1:226026519G>A	J03518	CCDS1547.1	1q42.1	2009-07-10			ENSG00000143819	ENSG00000143819	3.3.2.9		3401	protein-coding gene	gene with protein product		132810		EPHX		9925921	Standard	NM_000120		Approved		uc001hpk.3	P07099	OTTHUMG00000037743	ENST00000366837.4:c.529G>A	1.37:g.226026519G>A	ENSP00000355802:p.Val177Ile					EPHX1_ENST00000272167.5_Missense_Mutation_p.V177I	p.V177I	NM_000120.3	NP_000111.1	P07099	HYEP_HUMAN			4	725	+	Breast(184;0.197)		177					B2R8N0|Q5VTJ6|Q9NP75|Q9NPE7|Q9NQU6|Q9NQU7|Q9NQU8|Q9NQU9|Q9NQV0|Q9NQV1|Q9NQV2	Missense_Mutation	SNP	ENST00000366837.4	37	c.529G>A	CCDS1547.1	.	.	.	.	.	.	.	.	.	.	G	11.90	1.776684	0.31411	.	.	ENSG00000143819	ENST00000272167;ENST00000366837	T;T	0.03860	3.78;3.78	5.69	0.471	0.16752	.	0.329168	0.31936	N	0.006822	T	0.04137	0.0115	L	0.38733	1.17	0.09310	N	0.999997	B	0.15930	0.015	B	0.10450	0.005	T	0.42032	-0.9475	9	.	.	.	-19.6192	10.5972	0.45345	0.4839:0.0:0.5161:0.0	.	177	P07099	HYEP_HUMAN	I	177	ENSP00000272167:V177I;ENSP00000355802:V177I	.	V	+	1	0	EPHX1	224093142	0.011000	0.17503	0.057000	0.19452	0.942000	0.58702	0.317000	0.19487	0.304000	0.22809	-0.254000	0.11334	GTT		0.552	EPHX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092064.1	NM_000120		4	87	0	0	0	1	0	4	87					A	226026519	G	A	226026519	3	1	435	1	0	0	0	0	1	0	0	0	5179	1145	40	1	539	1	EPHX1	1	226026519	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	1544506	226026519	23224102	870	21795											
LEFTY1	10637	broad.mit.edu	37	chr1	226075694	226075694	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catgccgaacaccagcaggtGtgtgctggcctccaacgcca	9	6	11	15	2	0	0	0	0	0	0	1	1	1	0	5	2	5	2	5	2	2	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:226075694G>A	ENST00000272134.5	-	2	368	c.289C>T	c.(289-291)Cac>Tac	p.H97Y	RP4-559A3.7_ENST00000432920.2_Missense_Mutation_p.T205I|LEFTY1_ENST00000492457.1_5'UTR	NM_020997.3	NP_066277.1	O75610	LFTY1_HUMAN	left-right determination factor 1	97					cell growth (GO:0016049)|determination of left/right symmetry (GO:0007368)|heart morphogenesis (GO:0003007)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular space (GO:0005615)				cervix(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	10	Breast(184;0.197)					ACCAGCAGGTGTGTGCTGGCC	0.697																																						ENST00000272134.5																			0				cervix(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	10						c.(289-291)Cac>Tac		left-right determination factor 1							9	12	11					1																	226075694		1917	4122	6039	SO:0001583	missense	10637				cell growth|multicellular organismal development|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity|transforming growth factor beta receptor binding	g.chr1:226075694G>A	AF081507	CCDS1548.1	1q42.1	2008-02-05	2004-11-17	2004-11-17	ENSG00000243709	ENSG00000243709			6552	protein-coding gene	gene with protein product		603037	"left-right determination, factor B"	LEFTB		10053005, 10886363	Standard	NM_020997		Approved	LEFTYB	uc001hpo.3	O75610	OTTHUMG00000037443	ENST00000272134.5:c.289C>T	1.37:g.226075694G>A	ENSP00000272134:p.His97Tyr					RP4-559A3.7_ENST00000432920.2_Missense_Mutation_p.T205I|LEFTY1_ENST00000492457.1_5'UTR	p.H97Y	NM_020997.3	NP_066277.1	O75610	LFTY1_HUMAN			2	368	-	Breast(184;0.197)		97					B2R7U0|Q53H67|Q5TE94	Missense_Mutation	SNP	ENST00000272134.5	37	c.289C>T	CCDS1548.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.02|13.02	2.112927|2.112927	0.37242|0.37242	.|.	.|.	ENSG00000243709|ENSG00000255835	ENST00000272134|ENST00000432920	T|T	0.65364|0.78364	-0.15|-1.17	3.3|3.3	2.37|2.37	0.29283|0.29283	Transforming growth factor-beta, N-terminal (1);|.	0.242362|.	0.43260|.	N|.	0.000586|.	T|T	0.71558|0.71558	0.3354|0.3354	L|L	0.57536|0.57536	1.79|1.79	0.35841|0.35841	D|D	0.826085|0.826085	B;B|B	0.09022|0.02656	0.002;0.002|0.0	B;B|B	0.10450|0.01281	0.005;0.005|0.0	T|T	0.71199|0.71199	-0.4663|-0.4663	10|9	0.12766|0.87932	T|D	0.61|0	.|.	8.6241|8.6241	0.33879|0.33879	0.1148:0.0:0.8852:0.0|0.1148:0.0:0.8852:0.0	.|.	97;97|205	B2R7U0;O75610|E7EUD8	.;LFTY1_HUMAN|.	Y|I	97|205	ENSP00000272134:H97Y|ENSP00000414068:T205I	ENSP00000272134:H97Y|ENSP00000414068:T205I	H|T	-|-	1|2	0|0	LEFTY1|RP4-559A3.7	224142317|224142317	1.000000|1.000000	0.71417|0.71417	0.351000|0.351000	0.25721|0.25721	0.387000|0.387000	0.30353|0.30353	5.072000|5.072000	0.64389|0.64389	0.509000|0.509000	0.28195|0.28195	0.313000|0.313000	0.20887|0.20887	CAC|ACA		0.697	LEFTY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091155.1	NM_020997		5	9	0	0	0	1	0	5	9					A	226075694	G	A	226075694	3	1	435	1	0	0	0	0	1	0	0	0	8715	1377	48	3	823	3	LEFTY1	1	226075694	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	49175	226075694	23174927	871	21796											
PYCR2	29920	broad.mit.edu	37	chr1	226109966	226109966	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacgatgtgtctggcttgcaCgtcggccccaatctcatcca	7	10	9	15	3	2	0	1	0	2	0	5	1	3	0	3	2	1	2	3	2	1	1	rs375432992		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:226109966C>T	ENST00000343818.6	-	3	404	c.256G>A	c.(256-258)Gtg>Atg	p.V86M	PYCR2_ENST00000478402.1_5'UTR|RP4-559A3.7_ENST00000432920.2_Missense_Mutation_p.V86M	NM_013328.2	NP_037460.2	Q96C36	P5CR2_HUMAN	pyrroline-5-carboxylate reductase family, member 2	86					L-proline biosynthetic process (GO:0055129)	cytoplasm (GO:0005737)	pyrroline-5-carboxylate reductase activity (GO:0004735)			kidney(1)|lung(3)	4	Breast(184;0.197)				L-Proline(DB00172)	CTGGCTTGCACGTCGGCCCCA	0.582																																						ENST00000343818.6																			0				kidney(1)|lung(3)	4						c.(256-258)Gtg>Atg		pyrroline-5-carboxylate reductase family, member 2	L-Proline(DB00172)|NADH(DB00157)	C	MET/VAL	1,4405	2.1+/-5.4	0,1,2202	113	82	93		256	3.9	0.2	1		93	0,8600		0,0,4300	no	missense	PYCR2	NM_013328.2	21	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	possibly-damaging	86/321	226109966	1,13005	2203	4300	6503	SO:0001583	missense	29920				proline biosynthetic process	cytoplasm	binding|pyrroline-5-carboxylate reductase activity	g.chr1:226109966C>T	AF151351	CCDS31043.1, CCDS73039.1	1q42.13	2008-02-05			ENSG00000143811	ENSG00000143811			30262	protein-coding gene	gene with protein product						12477932	Standard	NM_013328		Approved	P5CR2	uc001hpq.4	Q96C36	OTTHUMG00000037506	ENST00000343818.6:c.256G>A	1.37:g.226109966C>T	ENSP00000342502:p.Val86Met					RP4-559A3.7_ENST00000432920.2_Missense_Mutation_p.V86M|PYCR2_ENST00000478402.1_5'UTR	p.V86M	NM_013328.2	NP_037460.2	Q96C36	P5CR2_HUMAN			3	404	-	Breast(184;0.197)		86					A8K798|Q7Z515|Q9Y5J4	Missense_Mutation	SNP	ENST00000343818.6	37	c.256G>A	CCDS31043.1	.	.	.	.	.	.	.	.	.	.	c	14.64	2.595042	0.46318	2.27E-4	0.0	ENSG00000255835;ENSG00000143811;ENSG00000143811;ENSG00000143811	ENST00000432920;ENST00000343818;ENST00000316940;ENST00000316918	T;T	0.42513	0.97;0.97	4.79	3.87	0.44632	NAD(P)-binding domain (1);	0.051553	0.85682	D	0.000000	T	0.53302	0.1788	M	0.64630	1.985	0.39386	D	0.966333	D;D;D	0.69078	0.997;0.97;0.995	D;P;P	0.65573	0.936;0.767;0.868	T	0.54846	-0.8232	10	0.51188	T	0.08	-18.4623	6.5243	0.22293	0.0:0.8114:0.0:0.1886	.	86;86;85	E7EUD8;Q96C36;E7EUS9	.;P5CR2_HUMAN;.	M	86;86;85;39	ENSP00000414068:V86M;ENSP00000342502:V86M	ENSP00000321499:V39M	V	-	1	0	PYCR2;RP4-559A3.7	224176589	1.000000	0.71417	0.173000	0.22940	0.167000	0.22549	3.977000	0.56874	2.629000	0.89072	0.655000	0.94253	GTG		0.582	PYCR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091314.1	NM_013328		7	18	0	0	0	1	0	7	18					T	226109966	C	T	226109966	3	4	435	1	0	0	0	0	1	0	0	0	12856	536	19	1	726	1	PYCR2	1	226109966	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	34272	226109966	23140655	872	21797											
PSEN2	5664	broad.mit.edu	37	chr1	227083146	227083146	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcttgtgtctgaccctcctgCtgcttgctgtgttcaagaag	5	14	11	11	0	2	2	1	1	1	1	3	2	3	2	2	0	3	5	2	0	2	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:227083146C>T	ENST00000366783.3	+	13	1649	c.1213C>T	c.(1213-1215)Ctg>Ttg	p.L405L	ADCK3_ENST00000366779.1_5'Flank|PSEN2_ENST00000391872.2_Silent_p.L438L|PSEN2_ENST00000366782.1_Silent_p.L438L|PSEN2_ENST00000422240.2_Silent_p.L404L|PSEN2_ENST00000472139.2_Silent_p.L261L|PSEN2_ENST00000340188.4_Silent_p.L372L|PSEN2_ENST00000471728.1_3'UTR	NM_000447.2|NM_012486.2	NP_000438.2|NP_036618.2	P49810	PSN2_HUMAN	presenilin 2	405					amyloid precursor protein catabolic process (GO:0042987)|anagen (GO:0042640)|apoptotic signaling pathway (GO:0097190)|beta-amyloid metabolic process (GO:0050435)|brain morphogenesis (GO:0048854)|calcium ion transport (GO:0006816)|cardiac muscle contraction (GO:0060048)|cell fate specification (GO:0001708)|dorsal/ventral neural tube patterning (GO:0021904)|embryonic limb morphogenesis (GO:0030326)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|forebrain development (GO:0030900)|hematopoietic progenitor cell differentiation (GO:0002244)|intracellular signal transduction (GO:0035556)|locomotion (GO:0040011)|lung alveolus development (GO:0048286)|membrane protein ectodomain proteolysis (GO:0006509)|membrane protein intracellular domain proteolysis (GO:0031293)|memory (GO:0007613)|myeloid leukocyte differentiation (GO:0002573)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of protein binding (GO:0032091)|negative regulation of protein complex assembly (GO:0031333)|negative regulation of protein phosphorylation (GO:0001933)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|positive regulation of apoptotic process (GO:0043065)|positive regulation of catalytic activity (GO:0043085)|positive regulation of coagulation (GO:0050820)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|protein processing (GO:0016485)|protein transport (GO:0015031)|regulation of epidermal growth factor-activated receptor activity (GO:0007176)|regulation of synaptic plasticity (GO:0048167)|response to hypoxia (GO:0001666)|somitogenesis (GO:0001756)|T cell activation involved in immune response (GO:0002286)|T cell receptor signaling pathway (GO:0050852)|thymus development (GO:0048538)	apical plasma membrane (GO:0016324)|axon (GO:0030424)|cell cortex (GO:0005938)|cell surface (GO:0009986)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|ciliary rootlet (GO:0035253)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|kinetochore (GO:0000776)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrial inner membrane (GO:0005743)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|nuclear inner membrane (GO:0005637)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|Z disc (GO:0030018)	aspartic-type endopeptidase activity (GO:0004190)|endopeptidase activity (GO:0004175)	p.L405L(1)		cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|urinary_tract(1)	20		Prostate(94;0.0771)				GACCCTCCTGCTGCTTGCTGT	0.602																																						ENST00000366782.1																			1	Substitution - coding silent(1)	p.L405L(1)	endometrium(1)	cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|urinary_tract(1)	20						c.(1312-1314)Ctg>Ttg		presenilin 2 (Alzheimer disease 4)							154	90	112					1																	227083146		2203	4300	6503	SO:0001819	synonymous_variant	5664				amyloid precursor protein catabolic process|anti-apoptosis|apoptosis|beta-amyloid metabolic process|calcium ion transport|induction of apoptosis by extracellular signals|intracellular signal transduction|membrane protein ectodomain proteolysis|membrane protein intracellular domain proteolysis|nerve growth factor receptor signaling pathway|Notch receptor processing|Notch signaling pathway|positive regulation of catalytic activity	apical plasma membrane|axon|cell cortex|cell surface|centrosome|ciliary rootlet|dendritic shaft|endoplasmic reticulum membrane|Golgi membrane|growth cone|integral to plasma membrane|kinetochore|lysosomal membrane|membrane raft|mitochondrial inner membrane|neuromuscular junction|neuronal cell body|nuclear inner membrane|perinuclear region of cytoplasm|Z disc	aspartic-type endopeptidase activity|protein binding	g.chr1:227083146C>T	BC006365	CCDS1556.1, CCDS44324.1	1q42.13	2014-09-17	2014-02-24		ENSG00000143801	ENSG00000143801			9509	protein-coding gene	gene with protein product		600759	"Alzheimer disease 4"	AD4		7638621	Standard	NM_000447		Approved	AD3L, STM2, PS2	uc009xeo.1	P49810	OTTHUMG00000037563	ENST00000366783.3:c.1213C>T	1.37:g.227083146C>T						PSEN2_ENST00000471728.1_3'UTR|PSEN2_ENST00000391872.2_Silent_p.L438L|PSEN2_ENST00000422240.2_Silent_p.L404L|PSEN2_ENST00000340188.4_Silent_p.L372L|PSEN2_ENST00000366783.3_Silent_p.L405L|PSEN2_ENST00000472139.2_Silent_p.L261L	p.L438L			P49810	PSN2_HUMAN			13	1812	+		Prostate(94;0.0771)	405	NLVRPFMDTLASHQLYI -> RKHSRFIQMN (in Ref. 3).				A8K8D4|B1AP21|Q96P32	Silent	SNP	ENST00000366783.3	37	c.1312C>T	CCDS1556.1																																																																																				0.602	PSEN2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000091539.1	NM_000447		11	14	0	0	0	1	0	11	14					T	227083146	C	T	227083146	2	4	435	1	0	0	0	0	0	0	0	1	12651	796	28	3		3	PSEN2	1	227083146	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	973180	227083146	22167475	873	21798											
CABC1	56997	broad.mit.edu	37	chr1	227149094	227149094	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ccagccctgaaggatggctgCcatattgggagacaccatca	11	7	11	12	0	1	2	1	1	0	1	1	4	1	3	4	3	2	1	4	3	2	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:227149094C>T	ENST00000366779.1	+	7	2779	c.8C>T	c.(7-9)gCc>gTc	p.A3V	ADCK3_ENST00000478406.1_Intron|ADCK3_ENST00000366777.3_Missense_Mutation_p.A3V|ADCK3_ENST00000366778.1_Intron|ADCK3_ENST00000458507.2_Intron			Q8NI60	ADCK3_HUMAN	aarF domain containing kinase 3	3					cell death (GO:0008219)|ubiquinone biosynthetic process (GO:0006744)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			endometrium(1)|kidney(2)|large_intestine(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	9						AGGATGGCTGCCATATTGGGA	0.607																																						ENST00000366779.1																			0				endometrium(1)|kidney(2)|large_intestine(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	9						c.(7-9)gCc>gTc		aarF domain containing kinase 3							46	47	47					1																	227149094		2203	4300	6503	SO:0001583	missense	56997				cell death	mitochondrion	ATP binding|protein serine/threonine kinase activity	g.chr1:227149094C>T	AJ278126	CCDS1557.1	1q42.11	2011-05-03	2010-10-01	2010-10-01	ENSG00000163050	ENSG00000163050			16812	protein-coding gene	gene with protein product	"coenzyme Q8 homolog (yeast)"	606980	"chaperone-ABC1 (activity of bc1 complex, S.pombe)-like", "chaperone, ABC1 activity of bc1 complex like (S. pombe)", "chaperone, ABC1 activity of bc1 complex homolog (S. pombe)"	CABC1			Standard	NM_020247		Approved	COQ8, SCAR9	uc001hqn.1	Q8NI60	OTTHUMG00000037621	ENST00000366779.1:c.8C>T	1.37:g.227149094C>T	ENSP00000355741:p.Ala3Val					ADCK3_ENST00000478406.1_Intron|ADCK3_ENST00000366775.1_5'UTR|ADCK3_ENST00000366776.1_Missense_Mutation_p.A3V|ADCK3_ENST00000458507.2_Intron|ADCK3_ENST00000366777.3_Missense_Mutation_p.A3V|ADCK3_ENST00000366778.1_Intron	p.A3V			Q8NI60	ADCK3_HUMAN			7	2779	+			3					Q5T7A5|Q63HK0|Q8NCJ6|Q9HBQ1|Q9NQ67	Missense_Mutation	SNP	ENST00000366779.1	37	c.8C>T	CCDS1557.1	.	.	.	.	.	.	.	.	.	.	C	10.82	1.457127	0.26161	.	.	ENSG00000163050	ENST00000366779;ENST00000366777;ENST00000366776	T;T;D	0.81659	-0.78;-0.78;-1.52	5.62	4.71	0.59529	.	0.428570	0.23489	N	0.047628	T	0.72875	0.3515	L	0.43152	1.355	0.80722	D	1	B	0.06786	0.001	B	0.04013	0.001	T	0.69442	-0.5144	10	0.59425	D	0.04	-17.1507	9.5622	0.39376	0.0:0.8381:0.0:0.1619	.	3	Q8NI60	ADCK3_HUMAN	V	3	ENSP00000355741:A3V;ENSP00000355739:A3V;ENSP00000355738:A3V	ENSP00000355738:A3V	A	+	2	0	ADCK3	225215717	0.769000	0.28531	0.995000	0.50966	0.016000	0.09150	0.920000	0.28705	1.365000	0.46057	0.655000	0.94253	GCC		0.607	ADCK3-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091712.1	NM_020247		9	58	0	0	0	1	0	9	58					T	227149094	C	T	227149094	3	4	435	1	0	0	0	0	1	0	0	0	2527	739	26	3	10	3	CABC1	1	227149094	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	65948	227149094	22101527	874	21799											
JMJD4	65094	broad.mit.edu	37	chr1	227920225	227920225	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggccagcacctctgtgatGcgcccaacatcaaaggctgc	10	6	11	14	1	2	1	1	1	1	0	2	2	2	1	3	2	4	2	3	2	2	0	rs139531103		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:227920225G>A	ENST00000366758.3	-	6	1259	c.1260C>T	c.(1258-1260)cgC>cgT	p.R420R	SNAP47_ENST00000480897.1_3'UTR|SNAP47_ENST00000366760.1_Intron|SNAP47_ENST00000315781.5_5'Flank|JMJD4_ENST00000438896.2_Silent_p.R404R|SNAP47_ENST00000366759.4_5'Flank|JMJD4_ENST00000485807.1_5'UTR	NM_023007.2	NP_075383.2	Q9H9V9	JMJD4_HUMAN	jumonji domain containing 4	420										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(1)	9		Prostate(94;0.0885)				CCTCTGTGATGCGCCCAACAT	0.612																																						ENST00000366758.3																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(1)	9						c.(1258-1260)cgC>cgT		jumonji domain containing 4		G	,	1,4405	2.1+/-5.4	0,1,2202	106	84	91		1212,1260	-1.8	0.2	1	dbSNP_134	91	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	JMJD4	NM_001161465.1,NM_023007.2	,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,	404/448,420/464	227920225	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	65094							g.chr1:227920225G>A	AK022579	CCDS1561.1, CCDS59203.1	1q42.13	2008-02-05			ENSG00000081692	ENSG00000081692			25724	protein-coding gene	gene with protein product						12477932	Standard	NM_023007		Approved	FLJ12517	uc001hrb.3	Q9H9V9	OTTHUMG00000037698	ENST00000366758.3:c.1260C>T	1.37:g.227920225G>A						SNAP47_ENST00000480897.1_3'UTR|JMJD4_ENST00000485807.1_5'UTR|JMJD4_ENST00000438896.2_Silent_p.R404R|SNAP47_ENST00000366760.1_Intron	p.R420R	NM_023007.2	NP_075383.2	Q9H9V9	JMJD4_HUMAN			6	1259	-		Prostate(94;0.0885)	420					Q5TBZ1|Q5TBZ6|Q9H970	Silent	SNP	ENST00000366758.3	37	c.1260C>T	CCDS1561.1	.	.	.	.	.	.	.	.	.	.	G	1.180	-0.638499	0.03557	2.27E-4	0.0	ENSG00000081692	ENST00000438896	.	.	.	5.02	-1.77	0.07982	.	.	.	.	.	T	0.44350	0.1289	.	.	.	0.38480	D	0.947697	.	.	.	.	.	.	T	0.39860	-0.9593	4	.	.	.	-44.1741	5.6154	0.17428	0.091:0.1242:0.6479:0.1368	.	.	.	.	V	397	.	.	A	-	2	0	JMJD4	225986848	0.816000	0.29132	0.226000	0.23910	0.080000	0.17528	0.096000	0.15147	-0.057000	0.13199	0.655000	0.94253	GCA		0.612	JMJD4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000091970.1	NM_023007		16	18	0	0	0	1	0	16	18					A	227920225	G	A	227920225	2	1	435	1	0	0	0	0	0	0	0	1	7951	1306	46	3		3	JMJD4	1	227920225	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	771131	227920225	21330396	875	21800											
PRSS38	339501	broad.mit.edu	37	chr1	228003511	228003511	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tggcccctccccgggtcgcaGcattggtccacagacagcca	7	6	11	17	2	0	1	0	0	0	1	3	1	2	1	6	3	2	2	6	3	0	1	rs145063024		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:228003511G>A	ENST00000366757.3	+	1	118	c.94G>A	c.(94-96)Gca>Aca	p.A32T		NM_183062.2	NP_898885.1	A1L453	PRS38_HUMAN	protease, serine, 38	32						extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						CCGGGTCGCAGCATTGGTCCA	0.687																																						ENST00000366757.3																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						c.(94-96)Gca>Aca		protease, serine, 38		G	THR/ALA	0,4406		0,0,2203	28	30	30		94	-1	0	1	dbSNP_134	30	2,8598	2.2+/-6.3	0,2,4298	no	missense	PRSS38	NM_183062.2	58	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	benign	32/327	228003511	2,13004	2203	4300	6503	SO:0001583	missense	339501				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr1:228003511G>A		CCDS1563.1	1q42.13	2010-05-07			ENSG00000185888	ENSG00000185888		"Serine peptidases / Serine peptidases"	29625	protein-coding gene	gene with protein product	"marapsin 2"					12838346	Standard	NM_183062		Approved	MPN2	uc001hrh.3	A1L453	OTTHUMG00000037701	ENST00000366757.3:c.94G>A	1.37:g.228003511G>A	ENSP00000355719:p.Ala32Thr						p.A32T	NM_183062.2	NP_898885.1	A1L453	PRS38_HUMAN			1	118	+			32					Q7RTY6	Missense_Mutation	SNP	ENST00000366757.3	37	c.94G>A	CCDS1563.1	.	.	.	.	.	.	.	.	.	.	G	10.61	1.397918	0.25205	0.0	2.33E-4	ENSG00000185888	ENST00000366757	D	0.88509	-2.39	2.28	-1.02	0.10135	.	1.028740	0.07804	N	0.957023	T	0.74427	0.3715	N	0.19112	0.55	0.09310	N	1	B	0.21381	0.055	B	0.08055	0.003	T	0.57323	-0.7831	10	0.13470	T	0.59	.	1.9219	0.03309	0.1356:0.1953:0.4702:0.1989	.	32	A1L453	PRS38_HUMAN	T	32	ENSP00000355719:A32T	ENSP00000355719:A32T	A	+	1	0	PRSS38	226070134	0.001000	0.12720	0.000000	0.03702	0.004000	0.04260	0.213000	0.17521	-0.237000	0.09739	0.514000	0.50259	GCA		0.687	PRSS38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091981.1	NM_183062		12	6	0	0	0	1	0	12	6					A	228003511	G	A	228003511	3	1	435	1	0	0	0	0	1	0	0	0	12627	971	34	3	96	3	PRSS38	1	228003511	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	83286	228003511	21247110	876	21801											
WNT9A	7483	broad.mit.edu	37	chr1	228109686	228109686	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gcacttgcaggtggtctccaCcccagccttgatcacctggc	6	9	10	16	0	2	1	1	1	1	0	3	1	2	1	5	3	2	2	5	3	0	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:228109686C>T	ENST00000272164.5	-	4	641	c.631G>A	c.(631-633)Gtg>Atg	p.V211M		NM_003395.2	NP_003386.1	O14904	WNT9A_HUMAN	wingless-type MMTV integration site family, member 9A	211					canonical Wnt signaling pathway (GO:0060070)|cell fate commitment (GO:0045165)|cell-cell signaling (GO:0007267)|cellular response to retinoic acid (GO:0071300)|cornea development in camera-type eye (GO:0061303)|embryonic forelimb morphogenesis (GO:0035115)|embryonic skeletal joint development (GO:0072498)|embryonic skeletal system morphogenesis (GO:0048704)|iris morphogenesis (GO:0061072)|mitotic cell cycle checkpoint (GO:0007093)|multicellular organismal development (GO:0007275)|negative regulation of cartilage development (GO:0061037)|negative regulation of cell death (GO:0060548)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|neuron differentiation (GO:0030182)|positive regulation of cell differentiation (GO:0045597)|positive regulation of smoothened signaling pathway (GO:0045880)|Wnt signaling pathway (GO:0016055)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	19		Prostate(94;0.0405)				GTGGTCTCCACCCCAGCCTTG	0.662																																						ENST00000272164.5																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	19						c.(631-633)Gtg>Atg		wingless-type MMTV integration site family, member 9A							39	39	39					1																	228109686		2201	4299	6500	SO:0001583	missense	7483				anterior/posterior pattern formation|axis specification|canonical Wnt receptor signaling pathway|cell-cell signaling|cellular response to retinoic acid|cornea development in camera-type eye|embryonic arm morphogenesis|embryonic skeletal joint morphogenesis|endoderm development|iris morphogenesis|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|neuron differentiation|positive regulation of smoothened signaling pathway|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|G-protein-coupled receptor binding|signal transducer activity	g.chr1:228109686C>T	AB060283	CCDS31045.1	1q42	2008-02-05	2003-03-11	2003-03-14	ENSG00000143816	ENSG00000143816		"Wingless-type MMTV integration sites"	12778	protein-coding gene	gene with protein product		602863	"wingless-type MMTV integration site family, member 14"	WNT14		9441749	Standard	NM_003395		Approved		uc001hri.2	O14904	OTTHUMG00000037592	ENST00000272164.5:c.631G>A	1.37:g.228109686C>T	ENSP00000272164:p.Val211Met					WNT9A_ENST00000497852.1_Intron	p.V211M	NM_003395.2	NP_003386.1	O14904	WNT9A_HUMAN			4	641	-		Prostate(94;0.0405)	211					A6NLW2|Q2M2J3|Q5VWU0|Q96S50	Missense_Mutation	SNP	ENST00000272164.5	37	c.631G>A	CCDS31045.1	.	.	.	.	.	.	.	.	.	.	C	13.54	2.267398	0.40095	.	.	ENSG00000143816	ENST00000272164	T	0.74421	-0.84	5.34	5.34	0.76211	.	0.070239	0.56097	D	0.000023	T	0.55673	0.1935	N	0.02674	-0.535	0.52099	D	0.999947	P	0.42871	0.792	P	0.50537	0.643	T	0.60475	-0.7256	10	0.02654	T	1	.	13.0463	0.58928	0.1608:0.8392:0.0:0.0	.	211	O14904	WNT9A_HUMAN	M	211	ENSP00000272164:V211M	ENSP00000272164:V211M	V	-	1	0	WNT9A	226176309	0.980000	0.34600	0.993000	0.49108	0.776000	0.43924	2.566000	0.45948	2.501000	0.84356	0.491000	0.48974	GTG		0.662	WNT9A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091646.1	NM_003395		23	24	0	0	0	1	0	23	24					T	228109686	C	T	228109686	3	4	435	1	0	0	0	0	1	0	0	0	17395	507	18	3	470	3	WNT9A	1	228109686	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	106175	228109686	21140935	877	21802											
ARF1	375	broad.mit.edu	37	chr1	228285129	228285129	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acaagatccggcccctgtggCgccactacttccagaacaca	11	6	8	16	2	0	2	0	0	0	2	2	2	2	2	5	2	2	0	5	2	3	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:228285129C>T	ENST00000541182.1	+	3	497	c.235C>T	c.(235-237)Cgc>Tgc	p.R79C	MIR3620_ENST00000584469.1_RNA|ARF1_ENST00000540651.1_Missense_Mutation_p.R79C|ARF1_ENST00000272102.5_Missense_Mutation_p.R79C|ARF1_ENST00000478424.1_3'UTR	NM_001024227.1|NM_001024228.1	NP_001019398.1|NP_001019399.1	P84077	ARF1_HUMAN	ADP-ribosylation factor 1	79					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cellular copper ion homeostasis (GO:0006878)|COPI coating of Golgi vesicle (GO:0048205)|dendritic spine organization (GO:0097061)|GTP catabolic process (GO:0006184)|long term synaptic depression (GO:0060292)|membrane organization (GO:0061024)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|post-Golgi vesicle-mediated transport (GO:0006892)|protein transport (GO:0015031)|regulation of Arp2/3 complex-mediated actin nucleation (GO:0034315)|regulation of defense response to virus by virus (GO:0050690)|regulation of receptor internalization (GO:0002090)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi membrane (GO:0000139)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|receptor signaling protein activity (GO:0005057)			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(4)	10		Prostate(94;0.0405)				GCCCCTGTGGCGCCACTACTT	0.607																																						ENST00000541182.1																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(4)	10						c.(235-237)Cgc>Tgc		ADP-ribosylation factor 1							73	73	73					1																	228285129		2203	4300	6503	SO:0001583	missense	375				cellular copper ion homeostasis|COPI coating of Golgi vesicle|post-Golgi vesicle-mediated transport|protein transport|regulation of defense response to virus by virus|retrograde vesicle-mediated transport, Golgi to ER|small GTPase mediated signal transduction|viral reproduction	cytosol|Golgi membrane|perinuclear region of cytoplasm|plasma membrane	GTP binding|GTPase activity|protein binding|receptor signaling protein activity	g.chr1:228285129C>T	M84326	CCDS1565.1	1q42.13	2014-01-30			ENSG00000143761	ENSG00000143761		"ADP-ribosylation factors", "Endogenous ligands"	652	protein-coding gene	gene with protein product		103180				1577740	Standard	NM_001658		Approved		uc001hrr.3	P84077	OTTHUMG00000037595	ENST00000541182.1:c.235C>T	1.37:g.228285129C>T	ENSP00000440005:p.Arg79Cys					ARF1_ENST00000478424.1_3'UTR|ARF1_ENST00000540651.1_Missense_Mutation_p.R79C|ARF1_ENST00000272102.5_Missense_Mutation_p.R79C	p.R79C	NM_001024227.1|NM_001024228.1	NP_001019398.1|NP_001019399.1	P84077	ARF1_HUMAN			3	497	+		Prostate(94;0.0405)	79					P10947|P32889	Missense_Mutation	SNP	ENST00000541182.1	37	c.235C>T	CCDS1565.1	.	.	.	.	.	.	.	.	.	.	C	19.47	3.834395	0.71373	.	.	ENSG00000143761	ENST00000272102;ENST00000540651;ENST00000542941;ENST00000541182	T;T;T	0.67171	-0.25;-0.25;-0.25	5.39	4.47	0.54385	Small GTP-binding protein domain (1);	0.000000	0.64402	D	0.000010	T	0.76449	0.3989	H	0.96111	3.77	0.80722	D	1	P	0.40578	0.722	B	0.35607	0.206	D	0.84325	0.0518	10	0.87932	D	0	-13.7481	15.5702	0.76330	0.1388:0.8612:0.0:0.0	.	79	P84077	ARF1_HUMAN	C	79	ENSP00000272102:R79C;ENSP00000442980:R79C;ENSP00000440005:R79C	ENSP00000272102:R79C	R	+	1	0	ARF1	226351752	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	7.588000	0.82629	1.489000	0.48450	0.467000	0.42956	CGC		0.607	ARF1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091650.1	NM_001024227		18	25	0	0	0	1	0	18	25					T	228285129	C	T	228285129	3	4	435	1	0	0	0	0	1	0	0	0	844	768	27	1	241	1	ARF1	1	228285129	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	175443	228285129	20965492	878	21803											
GJC2	57165	broad.mit.edu	37	chr1	228345726	228345726	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagattgtggtcatctccacGccctcggtcatgtacctggg	6	11	11	13	2	3	1	2	0	1	1	5	1	3	1	3	3	1	1	3	3	1	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:228345726G>A	ENST00000366714.2	+	2	442	c.267G>A	c.(265-267)acG>acA	p.T89T		NM_020435.3	NP_065168.2	Q5T442	CXG2_HUMAN	gap junction protein, gamma 2, 47kDa	89					cell death (GO:0008219)|cell-cell signaling (GO:0007267)|response to toxic substance (GO:0009636)	connexon complex (GO:0005922)|integral component of membrane (GO:0016021)|myelin sheath (GO:0043209)	gap junction channel activity (GO:0005243)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	7		Prostate(94;0.0405)				TCATCTCCACGCCCTCGGTCA	0.716																																						ENST00000366714.2																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	7						c.(265-267)acG>acA		gap junction protein, gamma 2, 47kDa							43	36	38					1																	228345726		2203	4300	6503	SO:0001819	synonymous_variant	57165				cell death	connexon complex|integral to membrane		g.chr1:228345726G>A	AF014643	CCDS1569.1	1q41-q42	2009-01-02	2007-12-14	2007-11-06	ENSG00000198835	ENSG00000198835		"Ion channels / Gap junction proteins (connexins)"	17494	protein-coding gene	gene with protein product	"connexin 47"	608803	"gap junction protein, alpha 12, 47kDa"	GJA12		19056803	Standard	NM_020435		Approved	CX47, CX46.6, SPG44	uc001hsk.3	Q5T442	OTTHUMG00000039771	ENST00000366714.2:c.267G>A	1.37:g.228345726G>A							p.T89T	NM_020435.3	NP_065168.2	Q5T442	CXG2_HUMAN			2	442	+		Prostate(94;0.0405)	89					O43440|Q7Z7J2|Q8IWJ9	Silent	SNP	ENST00000366714.2	37	c.267G>A	CCDS1569.1																																																																																				0.716	GJC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095985.1	NM_020435		9	19	0	0	0	1	0	9	19					A	228345726	G	A	228345726	2	1	435	1	0	0	0	0	0	0	0	1	6415	1074	38	1		1	GJC2	1	228345726	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	60597	228345726	20904895	879	21804											
GJC2	57165	broad.mit.edu	37	chr1	228345790	228345790	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgcgtctgagcaggagcggCgccgcgccctccgccgccgc	3	4	16	18	8	1	1	0	1	1	0	2	2	2	2	5	2	3	1	5	2	0	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:228345790C>T	ENST00000366714.2	+	2	506	c.331C>T	c.(331-333)Cgc>Tgc	p.R111C		NM_020435.3	NP_065168.2	Q5T442	CXG2_HUMAN	gap junction protein, gamma 2, 47kDa	111					cell death (GO:0008219)|cell-cell signaling (GO:0007267)|response to toxic substance (GO:0009636)	connexon complex (GO:0005922)|integral component of membrane (GO:0016021)|myelin sheath (GO:0043209)	gap junction channel activity (GO:0005243)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	7		Prostate(94;0.0405)				GCAGGAgcggcgccgcgccct	0.766																																						ENST00000366714.2																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	7						c.(331-333)Cgc>Tgc		gap junction protein, gamma 2, 47kDa							12	11	11					1																	228345790		2179	4255	6434	SO:0001583	missense	57165				cell death	connexon complex|integral to membrane		g.chr1:228345790C>T	AF014643	CCDS1569.1	1q41-q42	2009-01-02	2007-12-14	2007-11-06	ENSG00000198835	ENSG00000198835		"Ion channels / Gap junction proteins (connexins)"	17494	protein-coding gene	gene with protein product	"connexin 47"	608803	"gap junction protein, alpha 12, 47kDa"	GJA12		19056803	Standard	NM_020435		Approved	CX47, CX46.6, SPG44	uc001hsk.3	Q5T442	OTTHUMG00000039771	ENST00000366714.2:c.331C>T	1.37:g.228345790C>T	ENSP00000355675:p.Arg111Cys						p.R111C	NM_020435.3	NP_065168.2	Q5T442	CXG2_HUMAN			2	506	+		Prostate(94;0.0405)	111					O43440|Q7Z7J2|Q8IWJ9	Missense_Mutation	SNP	ENST00000366714.2	37	c.331C>T	CCDS1569.1	.	.	.	.	.	.	.	.	.	.	C	10.46	1.357167	0.24598	.	.	ENSG00000198835	ENST00000366714	D	0.98234	-4.81	4.23	2.23	0.28157	.	0.158448	0.31472	N	0.007594	D	0.97377	0.9142	L	0.56769	1.78	0.25078	N	0.990941	D	0.69078	0.997	P	0.55055	0.767	D	0.93367	0.6732	10	0.87932	D	0	.	6.8721	0.24127	0.4797:0.4229:0.0:0.0974	.	111	Q5T442	CXG2_HUMAN	C	111	ENSP00000355675:R111C	ENSP00000355675:R111C	R	+	1	0	GJC2	226412413	.	.	0.035000	0.18076	0.003000	0.03518	.	.	0.346000	0.23899	-0.339000	0.08088	CGC		0.766	GJC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095985.1	NM_020435		13	3	0	0	0	1	0	13	3					T	228345790	C	T	228345790	3	4	435	1	0	0	0	0	1	0	0	0	6415	768	27	1	333	1	GJC2	1	228345790	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	64	228345790	20904831	880	21805											
OBSCN	84033	broad.mit.edu	37	chr1	228401957	228401957	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgcgtggagctggcggtcccGgtgggccccgtccactggct	2	8	17	14	4	0	0	0	0	0	0	2	1	2	1	4	6	2	2	4	6	0	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:228401957G>T	ENST00000422127.1	+	4	1385	c.1341G>T	c.(1339-1341)ccG>ccT	p.P447P	OBSCN_ENST00000284548.11_Silent_p.P447P|C1orf145_ENST00000295012.5_5'Flank|OBSCN_ENST00000570156.2_Silent_p.P447P|OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000366709.4_5'UTR	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	447	Ig-like 5.				apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				TGGCGGTCCCGGTGGGCCCCG	0.701																																						ENST00000570156.2																			0				NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223						c.(1339-1341)ccG>ccT		obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF							37	46	43					1																	228401957		1942	4120	6062	SO:0001819	synonymous_variant	84033				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	g.chr1:228401957G>T	AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"Rho guanine nucleotide exchange factors", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.1341G>T	1.37:g.228401957G>T						OBSCN_ENST00000284548.11_Silent_p.P447P|OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000422127.1_Silent_p.P447P	p.P447P	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN			4	1415	+		Prostate(94;0.0405)	447			Ig-like 5.		Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Silent	SNP	ENST00000422127.1	37	c.1341G>T	CCDS58065.1																																																																																				0.701	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843		4	73	1	0	0.150653	1	0.151081	4	73					T	228401957	G	T	228401957	2	4	435	1	0	0	0	0	0	0	0	1	10812	1103	39	5		5	OBSCN	1	228401957	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	56167	228401957	20848664	881	21806											
OBSCN	84033	broad.mit.edu	37	chr1	228404812	228404812	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgagacctccgaagcccacGtccacgtgcactggtacaag	10	6	11	14	3	0	1	0	1	0	1	2	3	2	1	4	1	3	2	4	1	3	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:228404812G>A	ENST00000422127.1	+	8	2520	c.2476G>A	c.(2476-2478)Gtc>Atc	p.V826I	OBSCN_ENST00000284548.11_Missense_Mutation_p.V826I|OBSCN_ENST00000570156.2_Missense_Mutation_p.V826I|OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000366709.4_5'UTR	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	826	Ig-like 8.				apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CGAAGCCCACGTCCACGTGCA	0.667																																						ENST00000570156.2																			0				NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223						c.(2476-2478)Gtc>Atc		obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF							63	72	69					1																	228404812		2152	4239	6391	SO:0001583	missense	84033				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	g.chr1:228404812G>A	AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"Rho guanine nucleotide exchange factors", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.2476G>A	1.37:g.228404812G>A	ENSP00000409493:p.Val826Ile					OBSCN_ENST00000284548.11_Missense_Mutation_p.V826I|OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000422127.1_Missense_Mutation_p.V826I	p.V826I	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN			8	2550	+		Prostate(94;0.0405)	826			Ig-like 8.		Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Missense_Mutation	SNP	ENST00000422127.1	37	c.2476G>A	CCDS58065.1	.	.	.	.	.	.	.	.	.	.	.	8.540	0.872933	0.17322	.	.	ENSG00000154358	ENST00000284548;ENST00000422127	T;T	0.66638	-0.22;-0.22	4.79	-0.295	0.12828	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.514058	0.18070	N	0.152644	T	0.62696	0.2449	L	0.58101	1.795	0.09310	N	0.999995	B;D	0.56746	0.233;0.977	B;P	0.48654	0.022;0.585	T	0.57165	-0.7858	10	0.25751	T	0.34	.	9.6944	0.40147	0.3461:0.0:0.6539:0.0	.	826;826	Q5VST9;Q5VST9-3	OBSCN_HUMAN;.	I	826	ENSP00000284548:V826I;ENSP00000409493:V826I	ENSP00000284548:V826I	V	+	1	0	OBSCN	226471435	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.268000	0.08607	-0.211000	0.10124	-0.140000	0.14226	GTC		0.667	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843		26	31	0	0	0	1	0	26	31					A	228404812	G	A	228404812	3	1	435	1	0	0	0	0	1	0	0	0	10812	1145	40	1	2502	1	OBSCN	1	228404812	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	2855	228404812	20845809	882	21807											
OBSCN	84033	broad.mit.edu	37	chr1	228412316	228412316	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gagctccagctcgaaagtgtGcatggaggccacaggctgca	10	6	14	11	1	0	0	0	0	0	0	2	3	1	1	2	3	4	5	2	3	1	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:228412316G>A	ENST00000422127.1	+	9	2854	c.2810G>A	c.(2809-2811)tGc>tAc	p.C937Y	OBSCN_ENST00000284548.11_Missense_Mutation_p.C937Y|OBSCN_ENST00000570156.2_Missense_Mutation_p.C1029Y|OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000366709.4_5'UTR	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	937	Ig-like 9.			CM -> HV (in Ref. 1; CAC85746). {ECO:0000305}.	apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				TCGAAAGTGTGCATGGAGGCC	0.667																																						ENST00000570156.2																			0				NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223						c.(3085-3087)tGc>tAc		obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF							55	56	56					1																	228412316		2109	4223	6332	SO:0001583	missense	84033				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	g.chr1:228412316G>A	AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"Rho guanine nucleotide exchange factors", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.2810G>A	1.37:g.228412316G>A	ENSP00000409493:p.Cys937Tyr					OBSCN_ENST00000284548.11_Missense_Mutation_p.C937Y|OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000422127.1_Missense_Mutation_p.C937Y	p.C1029Y	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN			10	3160	+		Prostate(94;0.0405)	1029			Ig-like 10.		Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Missense_Mutation	SNP	ENST00000422127.1	37	c.3086G>A	CCDS58065.1	.	.	.	.	.	.	.	.	.	.	.	0.095	-1.161170	0.01673	.	.	ENSG00000154358	ENST00000284548;ENST00000422127	T;T	0.66460	-0.21;-0.21	4.51	-0.842	0.10748	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.980746	0.08333	N	0.961999	T	0.43765	0.1262	N	0.02315	-0.6	0.09310	N	0.999998	B;B	0.29432	0.244;0.1	B;B	0.38755	0.281;0.05	T	0.42982	-0.9419	10	0.16896	T	0.51	.	10.9828	0.47506	0.5055:0.0:0.4945:0.0	.	937;937	Q5VST9;Q5VST9-3	OBSCN_HUMAN;.	Y	937	ENSP00000284548:C937Y;ENSP00000409493:C937Y	ENSP00000284548:C937Y	C	+	2	0	OBSCN	226478939	0.000000	0.05858	0.001000	0.08648	0.006000	0.05464	-0.138000	0.10374	-0.023000	0.13963	-0.345000	0.07892	TGC		0.667	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843		14	21	0	0	0	1	0	14	21					A	228412316	G	A	228412316	3	1	435	1	0	0	0	0	1	0	0	0	10812	1319	46	3	2840	3	OBSCN	1	228412316	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	7504	228412316	20838305	883	21808											
OBSCN	84033	broad.mit.edu	37	chr1	228444550	228444550	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acggaggctggtggtgcagcAggcgggccaggcggtcgccg	5	4	21	11	5	0	0	0	0	0	0	1	1	0	1	2	8	2	3	2	8	0	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:228444550A>G	ENST00000422127.1	+	15	4552	c.4508A>G	c.(4507-4509)cAg>cGg	p.Q1503R	OBSCN_ENST00000284548.11_Missense_Mutation_p.Q1503R|OBSCN_ENST00000359599.6_Missense_Mutation_p.Q67R|OBSCN_ENST00000570156.2_Missense_Mutation_p.Q1595R|OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000366709.4_5'UTR	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	1503	Ig-like 15.				apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GTGGTGCAGCAGGCGGGCCAG	0.657																																						ENST00000570156.2																			0				NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223						c.(4783-4785)cAg>cGg		obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF							43	49	47					1																	228444550		2053	4182	6235	SO:0001583	missense	84033				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	g.chr1:228444550A>G	AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"Rho guanine nucleotide exchange factors", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.4508A>G	1.37:g.228444550A>G	ENSP00000409493:p.Gln1503Arg					OBSCN_ENST00000284548.11_Missense_Mutation_p.Q1503R|OBSCN_ENST00000359599.6_Missense_Mutation_p.Q67R|OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000422127.1_Missense_Mutation_p.Q1503R	p.Q1595R	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN			16	4858	+		Prostate(94;0.0405)	576			Ig-like 16.		Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Missense_Mutation	SNP	ENST00000422127.1	37	c.4784A>G	CCDS58065.1	.	.	.	.	.	.	.	.	.	.	.	14.95	2.687375	0.48097	.	.	ENSG00000154358	ENST00000284548;ENST00000422127;ENST00000359599	T;T;T	0.66638	3.62;3.62;-0.22	4.6	3.48	0.39840	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.579188	0.16878	N	0.195802	T	0.69904	0.3163	L	0.50993	1.605	0.80722	D	1	D;D	0.63880	0.993;0.991	P;P	0.60609	0.877;0.857	T	0.63963	-0.6518	10	0.18276	T	0.48	.	9.4609	0.38785	0.9149:0.0:0.0851:0.0	.	1503;1503	Q5VST9;Q5VST9-3	OBSCN_HUMAN;.	R	1503;1503;67	ENSP00000284548:Q1503R;ENSP00000409493:Q1503R;ENSP00000352613:Q67R	ENSP00000284548:Q1503R	Q	+	2	0	OBSCN	226511173	1.000000	0.71417	1.000000	0.80357	0.730000	0.41778	1.520000	0.35899	1.704000	0.51252	0.402000	0.26972	CAG		0.657	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843		19	33	0	0	0	1	0	19	33					G	228444550	A	G	228444550	3	3	435	1	0	0	0	0	1	0	0	0	10812	188	7	4	4562	4	OBSCN	1	228444550	Missense_Mutation	SNP	A	TCGA-XK-AAIW-01A-11D-A41K-08	32234	228444550	20806071	884	21809											
OBSCN	84033	broad.mit.edu	37	chr1	228462350	228462350	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgaggccaccttccagtgcGtggtgtcccccagtgatgtg	5	9	14	13	2	0	1	0	1	0	0	2	2	2	1	5	2	1	0	5	2	0	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:228462350G>A	ENST00000422127.1	+	20	5805	c.5761G>A	c.(5761-5763)Gtg>Atg	p.V1921M	RP5-1139B12.2_ENST00000602517.1_RNA|OBSCN_ENST00000570156.2_Missense_Mutation_p.V2296M|OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000284548.11_Missense_Mutation_p.V1921M|OBSCN_ENST00000366707.4_5'UTR|RP5-1139B12.3_ENST00000602947.1_RNA|OBSCN_ENST00000359599.6_Missense_Mutation_p.V768M|RP5-1139B12.3_ENST00000602529.1_RNA	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	1921	Ig-like 19.				apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CTTCCAGTGCGTGGTGTCCCC	0.622																																						ENST00000570156.2																			0				NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223						c.(6886-6888)Gtg>Atg		obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF							43	60	54					1																	228462350		2143	4237	6380	SO:0001583	missense	84033				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	g.chr1:228462350G>A	AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"Rho guanine nucleotide exchange factors", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.5761G>A	1.37:g.228462350G>A	ENSP00000409493:p.Val1921Met					OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000366707.4_5'UTR|RP5-1139B12.3_ENST00000602529.1_RNA|OBSCN_ENST00000359599.6_Missense_Mutation_p.V768M|OBSCN_ENST00000422127.1_Missense_Mutation_p.V1921M|OBSCN_ENST00000284548.11_Missense_Mutation_p.V1921M	p.V2296M	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN			24	6960	+		Prostate(94;0.0405)	1281			Ig-like 23.		Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Missense_Mutation	SNP	ENST00000422127.1	37	c.6886G>A	CCDS58065.1	.	.	.	.	.	.	.	.	.	.	G	15.43	2.830675	0.50845	.	.	ENSG00000154358	ENST00000284548;ENST00000422127;ENST00000359599	T;T;T	0.69561	-0.41;-0.41;-0.41	5.71	4.8	0.61643	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.176947	0.37348	N	0.002123	T	0.76285	0.3966	M	0.63843	1.955	0.31247	N	0.694444	D;D	0.89917	1.0;1.0	D;P	0.65773	0.938;0.868	T	0.77963	-0.2390	10	0.46703	T	0.11	.	11.2401	0.48964	0.1575:0.0:0.8425:0.0	.	1921;1921	Q5VST9;Q5VST9-3	OBSCN_HUMAN;.	M	1921;1921;768	ENSP00000284548:V1921M;ENSP00000409493:V1921M;ENSP00000352613:V768M	ENSP00000284548:V1921M	V	+	1	0	OBSCN	226528973	0.003000	0.15002	0.771000	0.31576	0.499000	0.33736	1.449000	0.35123	1.427000	0.47276	0.555000	0.69702	GTG		0.622	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843		8	15	0	0	0	1	0	8	15					A	228462350	G	A	228462350	3	1	435	1	0	0	0	0	1	0	0	0	10812	1145	40	1	5835	1	OBSCN	1	228462350	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	17800	228462350	20788271	885	21810											
OBSCN	84033	broad.mit.edu	37	chr1	228466411	228466411	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgccagtgaccctcgtgcGcccgctgcgggacaagattg	6	7	14	14	4	0	2	0	1	0	1	1	3	0	3	3	1	3	2	3	1	1	1	rs556474884		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:228466411G>A	ENST00000422127.1	+	26	6925	c.6881G>A	c.(6880-6882)cGc>cAc	p.R2294H	OBSCN_ENST00000570156.2_Missense_Mutation_p.R2723H|OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000284548.11_Missense_Mutation_p.R2294H|OBSCN_ENST00000366707.4_5'UTR|RP5-1139B12.3_ENST00000602947.1_RNA|OBSCN_ENST00000359599.6_Missense_Mutation_p.R1141H|RP5-1139B12.3_ENST00000602529.1_RNA	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	2294	Ig-like 23.				apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				ACCCTCGTGCGCCCGCTGCGG	0.662													G|||	1	0.000199681	0	0	5008	,	,		15237	0		0	False		,,,				2504	0.001					ENST00000570156.2																			0				NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223						c.(8167-8169)cGc>cAc		obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF							40	48	45					1																	228466411		2112	4229	6341	SO:0001583	missense	84033				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	g.chr1:228466411G>A	AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"Rho guanine nucleotide exchange factors", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.6881G>A	1.37:g.228466411G>A	ENSP00000409493:p.Arg2294His					OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000359599.6_Missense_Mutation_p.R1141H|OBSCN_ENST00000422127.1_Missense_Mutation_p.R2294H|OBSCN_ENST00000284548.11_Missense_Mutation_p.R2294H	p.R2723H	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN			31	8242	+		Prostate(94;0.0405)	1721			Ig-like 26.		Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Missense_Mutation	SNP	ENST00000422127.1	37	c.8168G>A	CCDS58065.1	.	.	.	.	.	.	.	.	.	.	G	15.95	2.984116	0.53827	.	.	ENSG00000154358	ENST00000284548;ENST00000422127;ENST00000359599	T;T;T	0.68331	-0.32;-0.32;-0.32	3.92	3.92	0.45320	Immunoglobulin I-set (1);Immunoglobulin-like (1);	0.109676	0.38217	N	0.001773	T	0.75895	0.3912	M	0.81341	2.54	0.80722	D	1	D;D	0.76494	0.998;0.999	D;P	0.63033	0.91;0.868	T	0.76898	-0.2789	10	0.54805	T	0.06	.	4.7091	0.12863	0.2896:0.0:0.7104:0.0	.	2294;2294	Q5VST9;Q5VST9-3	OBSCN_HUMAN;.	H	2294;2294;1141	ENSP00000284548:R2294H;ENSP00000409493:R2294H;ENSP00000352613:R1141H	ENSP00000284548:R2294H	R	+	2	0	OBSCN	226533034	1.000000	0.71417	0.992000	0.48379	0.682000	0.39822	5.081000	0.64444	2.044000	0.60594	0.289000	0.19496	CGC		0.662	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843		7	21	0	0	0	1	0	7	21					A	228466411	G	A	228466411	3	1	435	1	0	0	0	0	1	0	0	0	10812	1087	38	1	6979	1	OBSCN	1	228466411	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	4061	228466411	20784210	886	21811											
OBSCN	84033	broad.mit.edu	37	chr1	228547486	228547486	+	Intron	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ggcagaaccaggccagaagcCcgtggtgcccacactgtatg	10	5	13	13	1	0	2	0	0	0	2	0	2	0	2	4	3	3	2	4	3	3	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:228547486C>T	ENST00000422127.1	+	80	18705				OBSCN_ENST00000570156.2_Intron|OBSCN_ENST00000366709.4_Missense_Mutation_p.P3417L|OBSCN_ENST00000284548.11_Missense_Mutation_p.P6298L|OBSCN_ENST00000366707.4_Intron	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF						apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GGCCAGAAGCCCGTGGTGCCC	0.706																																						ENST00000284548.11																			0				NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223						c.(18892-18894)cCc>cTc		obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF							12	15	14					1																	228547486		2026	4182	6208	SO:0001627	intron_variant	84033				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	g.chr1:228547486C>T	AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"Rho guanine nucleotide exchange factors", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.18662-2791C>T	1.37:g.228547486C>T						OBSCN_ENST00000366709.4_Missense_Mutation_p.P3417L|OBSCN_ENST00000366707.4_Intron|OBSCN_ENST00000570156.2_Intron|OBSCN_ENST00000422127.1_Intron	p.P6298L			Q5VST9	OBSCN_HUMAN			81	18967	+		Prostate(94;0.0405)	7121					Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Missense_Mutation	SNP	ENST00000422127.1	37	c.18893C>T	CCDS58065.1	.	.	.	.	.	.	.	.	.	.	C	9.354	1.066233	0.20067	.	.	ENSG00000154358	ENST00000284548;ENST00000366709	T;T	0.54279	0.58;0.72	4.56	2.58	0.30949	.	.	.	.	.	T	0.47544	0.1451	L	0.57536	1.79	0.23030	N	0.998402	B	0.25904	0.137	B	0.21917	0.037	T	0.37174	-0.9717	9	0.42905	T	0.14	.	10.594	0.45327	0.1679:0.6981:0.134:0.0	.	6298	Q5VST9-3	.	L	6298;3417	ENSP00000284548:P6298L;ENSP00000355670:P3417L	ENSP00000284548:P6298L	P	+	2	0	OBSCN	226614109	0.274000	0.24191	0.031000	0.17742	0.076000	0.17211	1.972000	0.40540	0.473000	0.27368	-0.314000	0.08810	CCC		0.706	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843		6	14	0	0	0	1	0	6	14					T	228547486	C	T	228547486	1	4	435	0	1	0	0	0	0	0	0	0	10812	623	22	3		3	OBSCN	1	228547486	Intron	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	81075	228547486	20703135	887	21812											
ABCB10	23456	broad.mit.edu	37	chr1	229667480	229667480	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagtagaaagagctcagaccTgaggatgagaagcagaatcc	16	5	13	7	0	1	6	1	2	0	5	2	9	2	7	2	1	2	3	2	1	4	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:229667480T>C	ENST00000344517.4	-	7	1382		c.e7-2			NM_012089.2	NP_036221.2	Q9NRK6	ABCBA_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 10						transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of mitochondrial membrane (GO:0032592)|mitochondrial inner membrane (GO:0005743)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)			breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)	31	Breast(184;0.143)|Ovarian(103;0.249)	Prostate(94;0.167)				AGCTCAGACCTGAGGATGAGA	0.527																																						ENST00000344517.4																			0				breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)	31						c.e7-2		ATP-binding cassette, sub-family B (MDR/TAP), member 10							44	48	47					1																	229667480		2203	4300	6503	SO:0001630	splice_region_variant	23456					integral to mitochondrial membrane|mitochondrial inner membrane	ATP binding|oligopeptide-transporting ATPase activity	g.chr1:229667480T>C	U18237	CCDS1580.1	1q32	2012-03-14			ENSG00000135776	ENSG00000135776		"ATP binding cassette transporters / subfamily B"	41	protein-coding gene	gene with protein product	"ATP-binding cassette sub-family B member 10, mitochondrial", "ATP-binding cassette transporter 10", "ABC transporter 10 protein", "mitochondrial ATP-binding cassette 2"	605454				7766993	Standard	NM_012089		Approved	EST20237, M-ABC2, MTABC2	uc001htp.4	Q9NRK6	OTTHUMG00000039471	ENST00000344517.4:c.1340-2A>G	1.37:g.229667480T>C								NM_012089.2	NP_036221.2	Q9NRK6	ABCBA_HUMAN			7	1382	-	Breast(184;0.143)|Ovarian(103;0.249)	Prostate(94;0.167)						Q13040|Q6P1Q8|Q9H3V0	Splice_Site	SNP	ENST00000344517.4	37		CCDS1580.1	.	.	.	.	.	.	.	.	.	.	T	20.7	4.039258	0.75617	.	.	ENSG00000135776	ENST00000344517	.	.	.	5.96	5.96	0.96718	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.0022	0.71483	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	ABCB10	227734103	1.000000	0.71417	0.994000	0.49952	0.823000	0.46562	7.502000	0.81614	2.277000	0.76020	0.528000	0.53228	.		0.527	ABCB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095240.1	NM_012089	Intron	18	19	0	0	0	1	0	18	19					C	229667480	T	C	229667480	5	2	435	1	0	0	0	0	0	0	1	0	41	1594	55	4	906	4	ABCB10	1	229667480	Splice_Site	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	1119994	229667480	19583141	888	21813											
TAF5L	27097	broad.mit.edu	37	chr1	229730363	229730363	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctggtcctcgccagcagacGccaagtacttaccgttggga	8	8	12	13	3	0	1	0	0	0	1	2	2	1	2	4	2	3	4	4	2	3	3	rs377262959		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:229730363G>A	ENST00000366676.1	-	4	1450	c.1451C>T	c.(1450-1452)gCg>gTg	p.A484V	TAF5L_ENST00000258281.2_Missense_Mutation_p.A484V			O75529	TAF5L_HUMAN	TAF5-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65kDa	484					chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|transcription from RNA polymerase II promoter (GO:0006366)	STAGA complex (GO:0030914)|transcription factor TFTC complex (GO:0033276)	sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|lung(4)|ovary(1)	11	Breast(184;0.193)|Ovarian(103;0.249)	Prostate(94;0.167)				GCCAGCAGACGCCAAGTACTT	0.587																																						ENST00000258281.2																			0				breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|lung(4)|ovary(1)	11						c.(1450-1452)gCg>gTg		TAF5-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65kDa		G	VAL/ALA	1,4405	2.1+/-5.4	0,1,2202	73	76	75		1451	6	1	1		75	0,8600		0,0,4300	no	missense	TAF5L	NM_014409.3	64	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	484/590	229730363	1,13005	2203	4300	6503	SO:0001583	missense	27097				histone H3 acetylation|transcription from RNA polymerase II promoter	STAGA complex|transcription factor TFTC complex	sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chr1:229730363G>A	AF069736	CCDS1581.1, CCDS31051.1	1q42.11-q42.3	2013-01-10	2002-08-29		ENSG00000135801	ENSG00000135801		"WD repeat domain containing"	17304	protein-coding gene	gene with protein product	"PCAF associated factor 65 beta"		"TAF5-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65 kD"			9674425, 11124703	Standard	XM_005273100		Approved	PAF65B	uc001htq.3	O75529	OTTHUMG00000039463	ENST00000366676.1:c.1451C>T	1.37:g.229730363G>A	ENSP00000355636:p.Ala484Val					TAF5L_ENST00000366676.1_Missense_Mutation_p.A484V	p.A484V	NM_014409.3	NP_055224.1	O75529	TAF5L_HUMAN			5	1616	-	Breast(184;0.193)|Ovarian(103;0.249)	Prostate(94;0.167)	484					Q5TDI5|Q5TDI6|Q8IW31	Missense_Mutation	SNP	ENST00000366676.1	37	c.1451C>T	CCDS1581.1	.	.	.	.	.	.	.	.	.	.	G	16.04	3.009827	0.54361	2.27E-4	0.0	ENSG00000135801	ENST00000366676;ENST00000258281	T;T	0.66280	-0.2;-0.2	5.97	5.97	0.96955	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40 repeat, conserved site (1);WD40-repeat-containing domain (1);	0.095221	0.64402	N	0.000001	T	0.50171	0.1600	L	0.31065	0.9	0.80722	D	1	P	0.38504	0.634	B	0.27076	0.076	T	0.51325	-0.8720	10	0.41790	T	0.15	-10.3782	20.4238	0.99064	0.0:0.0:1.0:0.0	.	484	O75529	TAF5L_HUMAN	V	484	ENSP00000355636:A484V;ENSP00000258281:A484V	ENSP00000258281:A484V	A	-	2	0	TAF5L	227796986	1.000000	0.71417	0.972000	0.41901	0.187000	0.23431	7.969000	0.87988	2.828000	0.97474	0.655000	0.94253	GCG		0.587	TAF5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095229.1	NM_014409		33	57	0	0	0	1	0	33	57					A	229730363	G	A	229730363	3	1	435	1	0	0	0	0	1	0	0	0	15526	1087	38	1	322	1	TAF5L	1	229730363	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	62883	229730363	19520258	889	21814											
TAF5L	27097	broad.mit.edu	37	chr1	229730823	229730823	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tatcttcatctccgtgcctgCattatcatcctcatcatcct	7	16	3	15	1	6	0	4	0	2	0	9	0	8	0	4	0	2	1	4	0	2	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:229730823C>T	ENST00000366676.1	-	4	990	c.991G>A	c.(991-993)Gca>Aca	p.A331T	TAF5L_ENST00000258281.2_Missense_Mutation_p.A331T			O75529	TAF5L_HUMAN	TAF5-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65kDa	331					chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|transcription from RNA polymerase II promoter (GO:0006366)	STAGA complex (GO:0030914)|transcription factor TFTC complex (GO:0033276)	sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|lung(4)|ovary(1)	11	Breast(184;0.193)|Ovarian(103;0.249)	Prostate(94;0.167)				TCCGTGCCTGCATTATCATCC	0.517																																						ENST00000258281.2																			0				breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|lung(4)|ovary(1)	11						c.(991-993)Gca>Aca		TAF5-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65kDa							75	70	72					1																	229730823		2203	4300	6503	SO:0001583	missense	27097				histone H3 acetylation|transcription from RNA polymerase II promoter	STAGA complex|transcription factor TFTC complex	sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chr1:229730823C>T	AF069736	CCDS1581.1, CCDS31051.1	1q42.11-q42.3	2013-01-10	2002-08-29		ENSG00000135801	ENSG00000135801		"WD repeat domain containing"	17304	protein-coding gene	gene with protein product	"PCAF associated factor 65 beta"		"TAF5-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65 kD"			9674425, 11124703	Standard	XM_005273100		Approved	PAF65B	uc001htq.3	O75529	OTTHUMG00000039463	ENST00000366676.1:c.991G>A	1.37:g.229730823C>T	ENSP00000355636:p.Ala331Thr					TAF5L_ENST00000366676.1_Missense_Mutation_p.A331T	p.A331T	NM_014409.3	NP_055224.1	O75529	TAF5L_HUMAN			5	1156	-	Breast(184;0.193)|Ovarian(103;0.249)	Prostate(94;0.167)	331					Q5TDI5|Q5TDI6|Q8IW31	Missense_Mutation	SNP	ENST00000366676.1	37	c.991G>A	CCDS1581.1	.	.	.	.	.	.	.	.	.	.	C	2.302	-0.359943	0.05138	.	.	ENSG00000135801	ENST00000366676;ENST00000258281	T;T	0.58506	0.33;0.33	5.8	1.81	0.25067	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.488402	0.23991	N	0.042568	T	0.27524	0.0676	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.27773	-1.0064	10	0.02654	T	1	0.3791	7.4554	0.27264	0.1187:0.6916:0.0:0.1897	.	331	O75529	TAF5L_HUMAN	T	331	ENSP00000355636:A331T;ENSP00000258281:A331T	ENSP00000258281:A331T	A	-	1	0	TAF5L	227797446	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.917000	0.28665	0.083000	0.17047	-0.136000	0.14681	GCA		0.517	TAF5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095229.1	NM_014409		15	35	0	0	0	1	0	15	35					T	229730823	C	T	229730823	3	4	435	1	0	0	0	0	1	0	0	0	15526	710	25	3	782	3	TAF5L	1	229730823	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	460	229730823	19519798	890	21815											
URB2	9816	broad.mit.edu	37	chr1	229771763	229771763	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caaactccgacaagtgccacGgttgtttgaagaggttttgg	10	11	12	8	2	0	2	0	1	0	1	1	3	1	2	2	3	2	3	2	3	3	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:229771763G>A	ENST00000258243.2	+	4	1539	c.1403G>A	c.(1402-1404)cGg>cAg	p.R468Q		NM_014777.2	NP_055592.2	Q14146	URB2_HUMAN	URB2 ribosome biogenesis 2 homolog (S. cerevisiae)	468						aggresome (GO:0016235)|nucleolus (GO:0005730)|nucleus (GO:0005634)				breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(6)	73						CAAGTGCCACGGTTGTTTGAA	0.557																																						ENST00000258243.2																			0				breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(6)	73						c.(1402-1404)cGg>cAg		URB2 ribosome biogenesis 2 homolog (S. cerevisiae)							120	129	126					1																	229771763		2203	4300	6503	SO:0001583	missense	9816					nucleolus		g.chr1:229771763G>A	D50923	CCDS31052.1	1q42.13	2009-11-06	2008-10-01	2008-10-01	ENSG00000135763	ENSG00000135763			28967	protein-coding gene	gene with protein product	"nucleolar preribosomal-associated protein 1"		"KIAA0133"	KIAA0133		8590280	Standard	NM_014777		Approved	NPA2, NET10	uc001hts.1	Q14146	OTTHUMG00000039464	ENST00000258243.2:c.1403G>A	1.37:g.229771763G>A	ENSP00000258243:p.Arg468Gln						p.R468Q	NM_014777.2	NP_055592.2	Q14146	URB2_HUMAN			4	1539	+			468					Q5VYC9	Missense_Mutation	SNP	ENST00000258243.2	37	c.1403G>A	CCDS31052.1	.	.	.	.	.	.	.	.	.	.	G	9.510	1.105458	0.20632	.	.	ENSG00000135763	ENST00000258243	T	0.42513	0.97	5.35	0.07	0.14376	.	0.411376	0.27249	N	0.020232	T	0.30572	0.0769	M	0.64997	1.995	0.09310	N	1	B	0.30193	0.272	B	0.17433	0.018	T	0.12553	-1.0543	9	.	.	.	-11.9357	5.7552	0.18168	0.3905:0.0:0.4897:0.1198	.	468	Q14146	URB2_HUMAN	Q	468	ENSP00000258243:R468Q	.	R	+	2	0	URB2	227838386	0.102000	0.21896	0.035000	0.18076	0.318000	0.28184	0.913000	0.28611	-0.153000	0.11137	-0.157000	0.13467	CGG		0.557	URB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095232.1	NM_014777		8	128	0	0	0	1	0	8	128					A	229771763	G	A	229771763	3	1	435	1	0	0	0	0	1	0	0	0	17022	1116	39	2	1413	2	URB2	1	229771763	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	40940	229771763	19478858	891	21816											
GALNT2	2590	broad.mit.edu	37	chr1	230372099	230372099	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atcttcttgtcttttcttagCgtgcttaagaaaagcccgcc	8	15	7	11	2	4	1	0	0	4	1	4	1	4	1	2	0	3	1	2	0	4	6	rs143842900	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:230372099C>T	ENST00000366672.4	+	5	546	c.474C>T	c.(472-474)agC>agT	p.S158S	GALNT2_ENST00000541865.1_Splice_Site_p.S68S|GALNT2_ENST00000543760.1_Splice_Site_p.S120S	NM_004481.3	NP_004472.1	Q10471	GALT2_HUMAN	polypeptide N-acetylgalactosaminyltransferase 2	158	Catalytic subdomain A.				cellular protein metabolic process (GO:0044267)|immunoglobulin biosynthetic process (GO:0002378)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein O-linked glycosylation (GO:0006493)|protein O-linked glycosylation via serine (GO:0018242)|protein O-linked glycosylation via threonine (GO:0018243)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of Golgi membrane (GO:0030173)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	carbohydrate binding (GO:0030246)|manganese ion binding (GO:0030145)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(5)|skin(2)	32	Breast(184;0.193)|Ovarian(103;0.249)	all_cancers(173;0.156)|Prostate(94;0.179)				CTTTTCTTAGCGTGCTTAAGA	0.398																																						ENST00000366672.4																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(5)|skin(2)	32						c.e5-1		UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 2 (GalNAc-T2)		C		4,4402	6.2+/-15.9	0,4,2199	56	57	57		474	-4	0.9	1	dbSNP_134	57	0,8600		0,0,4300	yes	coding-synonymous-near-splice	GALNT2	NM_004481.3		0,4,6499	TT,TC,CC		0.0,0.0908,0.0308		158/572	230372099	4,13002	2203	4300	6503	SO:0001630	splice_region_variant	2590				immunoglobulin biosynthetic process|protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine	extracellular region|Golgi cisterna membrane|integral to Golgi membrane|perinuclear region of cytoplasm	manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr1:230372099C>T	BC041120	CCDS1582.1	1q41-q42	2014-03-13	2014-03-13		ENSG00000143641	ENSG00000143641	2.4.1.41	"Glycosyltransferase family 2 domain containing"	4124	protein-coding gene	gene with protein product	"polypeptide GalNAc transferase 2"	602274	"UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 2 (GalNAc-T2)"			9592121, 7592619	Standard	NM_004481		Approved	GalNAc-T2	uc010pwa.1	Q10471	OTTHUMG00000037771	ENST00000366672.4:c.474-1C>T	1.37:g.230372099C>T						GALNT2_ENST00000543760.1_Splice_Site_p.S120_splice|GALNT2_ENST00000541865.1_Splice_Site_p.S68_splice	p.S158_splice	NM_004481.3	NP_004472.1	Q10471	GALT2_HUMAN			5	546	+	Breast(184;0.193)|Ovarian(103;0.249)	all_cancers(173;0.156)|Prostate(94;0.179)	158			Catalytic subdomain A.		A8K1Y3|B7Z8V8|C5HU00|Q9NPY4	Splice_Site	SNP	ENST00000366672.4	37	c.473_splice	CCDS1582.1																																																																																				0.398	GALNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092158.1	NM_004481	Silent	13	53	0	0	0	1	0	13	53					T	230372099	C	T	230372099	5	4	435	1	0	0	0	0	0	0	1	0	6213	782	27	1	492	1	GALNT2	1	230372099	Splice_Site	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	600336	230372099	18878522	892	21817											
PGBD5	79605	broad.mit.edu	37	chr1	230461129	230461129	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ctccacggccaaggggcatgGgatctccccactcttccttt	6	10	9	16	1	2	0	0	0	2	0	5	1	4	1	5	4	0	1	5	4	1	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:230461129G>A	ENST00000525115.1	-	6	1122	c.1099C>T	c.(1099-1101)Cca>Tca	p.P367S	PGBD5_ENST00000321327.2_Missense_Mutation_p.P466S|PGBD5_ENST00000391860.1_Missense_Mutation_p.P321S|PGBD5_ENST00000530424.1_5'UTR			Q8N414	PGBD5_HUMAN	piggyBac transposable element derived 5	367						integral component of membrane (GO:0016021)				biliary_tract(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(2)|skin(1)	33	Breast(184;0.0397)	Prostate(94;0.167)		GBM - Glioblastoma multiforme(131;0.201)		AAGGGGCATGGGATCTCCCCA	0.527																																						ENST00000321327.2																			0				biliary_tract(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(2)|skin(1)	33						c.(1396-1398)Cca>Tca		piggyBac transposable element derived 5							234	214	221					1																	230461129		2203	4300	6503	SO:0001583	missense	79605					integral to membrane		g.chr1:230461129G>A	AK021475		1q42.13	2008-02-05			ENSG00000177614	ENSG00000177614			19405	protein-coding gene	gene with protein product							Standard	NM_001258311		Approved	DKFZp761A0620, FLJ11413	uc031psq.1	Q8N414	OTTHUMG00000037759	ENST00000525115.1:c.1099C>T	1.37:g.230461129G>A	ENSP00000431404:p.Pro367Ser					PGBD5_ENST00000525115.1_Missense_Mutation_p.P367S|PGBD5_ENST00000530424.1_5'UTR|PGBD5_ENST00000391860.1_Missense_Mutation_p.P321S	p.P466S			Q8N414	PGBD5_HUMAN		GBM - Glioblastoma multiforme(131;0.201)	8	1395	-	Breast(184;0.0397)	Prostate(94;0.167)	367					A0PJF3|B9EK58|Q5SR37|Q6PJN2	Missense_Mutation	SNP	ENST00000525115.1	37	c.1396C>T		.	.	.	.	.	.	.	.	.	.	G	20.8	4.046201	0.75846	.	.	ENSG00000177614	ENST00000391860;ENST00000321327;ENST00000525115	T;T;T	0.16073	2.37;2.37;2.37	5.17	5.17	0.71159	.	0.105419	0.64402	D	0.000003	T	0.28267	0.0698	L	0.27053	0.805	0.58432	D	0.999996	P;D	0.76494	0.956;0.999	P;D	0.63283	0.715;0.913	T	0.01574	-1.1321	10	0.33940	T	0.23	-37.3723	19.0983	0.93263	0.0:0.0:1.0:0.0	.	367;57	Q8N414;B4DM72	PGBD5_HUMAN;.	S	321;466;367	ENSP00000375733:P321S;ENSP00000322530:P466S;ENSP00000431404:P367S	ENSP00000322530:P466S	P	-	1	0	PGBD5	228527752	1.000000	0.71417	1.000000	0.80357	0.868000	0.49771	6.551000	0.73909	2.598000	0.87819	0.555000	0.69702	CCA		0.527	PGBD5-002	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000382617.1	NM_024554		35	55	0	0	0	1	0	35	55					A	230461129	G	A	230461129	3	1	435	1	0	0	0	0	1	0	0	0	11784	1232	43	3	276	3	PGBD5	1	230461129	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	89030	230461129	18789492	893	21818											
COG2	22796	broad.mit.edu	37	chr1	230805102	230805102	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttacccaccttttcttgcagCgtatagctggcattacagcc	8	13	7	13	1	1	0	0	0	1	0	1	0	1	0	3	1	6	4	3	1	4	7	rs376181628		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:230805102C>T	ENST00000366669.4	+	7	710	c.595C>T	c.(595-597)Cgt>Tgt	p.R199C	COG2_ENST00000366668.3_Splice_Site_p.R199C|COG2_ENST00000535166.1_Splice_Site_p.R83C|COG2_ENST00000534989.1_Splice_Site_p.R140C	NM_001145036.1|NM_007357.2	NP_001138508.1|NP_031383.1	Q14746	COG2_HUMAN	component of oligomeric golgi complex 2	199					Golgi organization (GO:0007030)|intra-Golgi vesicle-mediated transport (GO:0006891)|intracellular protein transport (GO:0006886)|oligosaccharide biosynthetic process (GO:0009312)|protein glycosylation (GO:0006486)	cytosol (GO:0005829)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|Golgi transport complex (GO:0017119)	protein transporter activity (GO:0008565)			NS(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(11)|prostate(2)|skin(2)|urinary_tract(3)	27	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.178)				TTTCTTGCAGCGTATAGCTGG	0.418																																						ENST00000534989.1																			0				NS(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(11)|prostate(2)|skin(2)|urinary_tract(3)	27						c.e7-1		component of oligomeric golgi complex 2		C	CYS/ARG,CYS/ARG	0,4406		0,0,2203	106	104	105		595,595	5.5	1	1		105	1,8599	1.2+/-3.3	0,1,4299	no	missense-near-splice,missense-near-splice	COG2	NM_001145036.1,NM_007357.2	180,180	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging	199/738,199/739	230805102	1,13005	2203	4300	6503	SO:0001630	splice_region_variant	22796				Golgi organization|intra-Golgi vesicle-mediated transport|intracellular protein transport|oligosaccharide biosynthetic process|protein glycosylation	Golgi membrane|Golgi stack|Golgi transport complex	protein binding|protein transporter activity	g.chr1:230805102C>T	Z34975	CCDS1584.1, CCDS44329.1	1q42.2	2008-02-05	2002-05-28	2002-05-31	ENSG00000135775	ENSG00000135775		"Components of oligomeric golgi complex"	6546	protein-coding gene	gene with protein product		606974	"low density lipoprotein receptor defect C complementing"	LDLC		7962052	Standard	NM_007357		Approved		uc001htw.3	Q14746	OTTHUMG00000037753	ENST00000366669.4:c.595-1C>T	1.37:g.230805102C>T						COG2_ENST00000494371.1_3'UTR|COG2_ENST00000535166.1_Splice_Site_p.R83_splice|COG2_ENST00000366668.3_Splice_Site_p.R199_splice|COG2_ENST00000366669.4_Splice_Site_p.R199_splice	p.R140_splice			Q14746	COG2_HUMAN			7	753	+	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.178)	199					Q86U99	Splice_Site	SNP	ENST00000366669.4	37	c.417_splice	CCDS1584.1	.	.	.	.	.	.	.	.	.	.	C	23.7	4.445212	0.83993	0.0	1.16E-4	ENSG00000135775	ENST00000366669;ENST00000535166;ENST00000366668;ENST00000534989	T;T;T;T	0.32515	1.45;1.45;1.45;1.45	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	T	0.61426	0.2346	M	0.83483	2.645	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.998	T	0.64032	-0.6502	9	.	.	.	-13.1793	19.2959	0.94122	0.0:1.0:0.0:0.0	.	199;199	Q86U99;Q14746	.;COG2_HUMAN	C	199;83;199;140	ENSP00000355629:R199C;ENSP00000445724:R83C;ENSP00000355628:R199C;ENSP00000440349:R140C	.	R	+	1	0	COG2	228871725	1.000000	0.71417	1.000000	0.80357	0.867000	0.49689	5.642000	0.67888	2.564000	0.86499	0.655000	0.94253	CGT		0.418	COG2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000092087.1	NM_007357	Missense_Mutation	18	77	0	0	0	1	0	18	77					T	230805102	C	T	230805102	5	4	435	1	0	0	0	0	0	0	1	0	3658	782	27	1	621	1	COG2	1	230805102	Splice_Site	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	343973	230805102	18445519	894	21819											
AGT	183	broad.mit.edu	37	chr1	230845754	230845754	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gccttaccttggaagtggacGtaggtgttgaaagccagggt	9	10	15	7	1	0	1	0	1	0	0	0	3	0	3	3	4	2	2	3	4	4	4	rs543740975		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:230845754G>A	ENST00000366667.4	-	2	1057	c.843C>T	c.(841-843)taC>taT	p.Y281Y	RP11-99J16__A.2_ENST00000412344.1_RNA	NM_000029.3	NP_000020.1	P01019	ANGT_HUMAN	angiotensinogen (serpin peptidase inhibitor, clade A, member 8)	281			Y -> C (associated with susceptibility to hypertension; alters the structure, glycosylation and secretion of angiotensinogen; dbSNP:rs56073403). {ECO:0000269|PubMed:1394429, ECO:0000269|PubMed:7607642}.		activation of NF-kappaB-inducing kinase activity (GO:0007250)|activation of phospholipase C activity (GO:0007202)|aging (GO:0007568)|angiotensin maturation (GO:0002003)|angiotensin mediated vasoconstriction involved in regulation of systemic arterial blood pressure (GO:0001998)|angiotensin-mediated drinking behavior (GO:0003051)|artery smooth muscle contraction (GO:0014824)|astrocyte activation (GO:0048143)|blood vessel development (GO:0001568)|blood vessel remodeling (GO:0001974)|branching involved in ureteric bud morphogenesis (GO:0001658)|catenin import into nucleus (GO:0035411)|cell growth involved in cardiac muscle cell development (GO:0061049)|cell-cell signaling (GO:0007267)|cell-matrix adhesion (GO:0007160)|cellular lipid metabolic process (GO:0044255)|cellular protein metabolic process (GO:0044267)|cellular response to mechanical stimulus (GO:0071260)|cellular sodium ion homeostasis (GO:0006883)|cytokine secretion (GO:0050663)|ERK1 and ERK2 cascade (GO:0070371)|establishment of blood-nerve barrier (GO:0008065)|excretion (GO:0007588)|extracellular matrix organization (GO:0030198)|fibroblast proliferation (GO:0048144)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:0007199)|kidney development (GO:0001822)|low-density lipoprotein particle remodeling (GO:0034374)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of neurotrophin TRK receptor signaling pathway (GO:0051387)|negative regulation of sodium ion transmembrane transporter activity (GO:2000650)|negative regulation of tissue remodeling (GO:0034104)|nitric oxide mediated signal transduction (GO:0007263)|ovarian follicle rupture (GO:0001543)|peristalsis (GO:0030432)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of activation of JAK2 kinase activity (GO:0010535)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of cholesterol esterification (GO:0010873)|positive regulation of cytokine production (GO:0001819)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of epidermal growth factor receptor signaling pathway (GO:0045742)|positive regulation of extracellular matrix constituent secretion (GO:0003331)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of fatty acid biosynthetic process (GO:0045723)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of NAD(P)H oxidase activity (GO:0033864)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of organ growth (GO:0046622)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of blood vessel size by renin-angiotensin (GO:0002034)|regulation of blood volume by renin-angiotensin (GO:0002016)|regulation of calcium ion transport (GO:0051924)|regulation of cell growth (GO:0001558)|regulation of cell proliferation (GO:0042127)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of norepinephrine secretion (GO:0014061)|regulation of proteolysis (GO:0030162)|regulation of renal output by angiotensin (GO:0002019)|regulation of renal sodium excretion (GO:0035813)|regulation of vasoconstriction (GO:0019229)|renal response to blood flow involved in circulatory renin-angiotensin regulation of systemic arterial blood pressure (GO:0001999)|renal system process (GO:0003014)|renin-angiotensin regulation of aldosterone production (GO:0002018)|response to cold (GO:0009409)|response to muscle activity involved in regulation of muscle adaptation (GO:0014873)|response to salt stress (GO:0009651)|small molecule metabolic process (GO:0044281)|smooth muscle cell differentiation (GO:0051145)|smooth muscle cell proliferation (GO:0048659)|stress-activated MAPK cascade (GO:0051403)|uterine smooth muscle contraction (GO:0070471)|vasodilation (GO:0042311)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	growth factor activity (GO:0008083)|hormone activity (GO:0005179)|serine-type endopeptidase inhibitor activity (GO:0004867)|superoxide-generating NADPH oxidase activator activity (GO:0016176)|type 1 angiotensin receptor binding (GO:0031702)|type 2 angiotensin receptor binding (GO:0031703)			endometrium(5)|kidney(1)|large_intestine(6)|lung(7)|pancreas(1)|prostate(5)	25	Breast(184;0.0735)|Ovarian(103;0.183)	all_cancers(173;4.64e-23)|all_epithelial(177;3.61e-18)|Breast(1374;0.00093)|all_neural(198;0.0604)|Prostate(94;0.167)		GBM - Glioblastoma multiforme(131;4.4e-06)|Colorectal(1306;5.46e-06)|COAD - Colon adenocarcinoma(196;0.000256)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		GGAAGTGGACGTAGGTGTTGA	0.547													G|||	1	0.000199681	8e-04	0	5008	,	,		19143	0		0	False		,,,				2504	0					ENST00000366667.4																			0				endometrium(5)|kidney(1)|large_intestine(6)|lung(7)|pancreas(1)|prostate(5)	25						c.(841-843)taC>taT		angiotensinogen (serpin peptidase inhibitor, clade A, member 8)	Aliskiren(DB01258)|Atorvastatin(DB01076)|Cilazapril(DB01340)|Irbesartan(DB01029)|Lisinopril(DB00722)|Ouabain(DB01092)|Simvastatin(DB00641)						122	127	125					1																	230845754		2203	4300	6503	SO:0001819	synonymous_variant	183				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|blood vessel remodeling|cell-cell signaling|cellular lipid metabolic process|G-protein signaling, coupled to cGMP nucleotide second messenger|kidney development|low-density lipoprotein particle remodeling|negative regulation of nerve growth factor receptor signaling pathway|nitric oxide mediated signal transduction|positive regulation of activation of JAK2 kinase activity|positive regulation of apoptosis|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of cardiac muscle hypertrophy|positive regulation of cholesterol esterification|positive regulation of cytokine production|positive regulation of endothelial cell migration|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of fibroblast proliferation|positive regulation of inflammatory response|positive regulation of NAD(P)H oxidase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein tyrosine kinase activity|positive regulation of reactive oxygen species metabolic process|positive regulation of transcription, DNA-dependent|regulation of proteolysis|regulation of renal output by angiotensin|regulation of renal sodium excretion|regulation of vasoconstriction|renin-angiotensin regulation of aldosterone production|response to muscle activity involved in regulation of muscle adaptation	extracellular space|soluble fraction	acetyltransferase activator activity|growth factor activity|hormone activity|serine-type endopeptidase inhibitor activity|type 1 angiotensin receptor binding|type 2 angiotensin receptor binding	g.chr1:230845754G>A	K02215	CCDS1585.1	1q42.2	2014-02-18	2005-08-18	2001-06-29	ENSG00000135744	ENSG00000135744		"Serine (or cysteine) peptidase inhibitors", "Endogenous ligands"	333	protein-coding gene	gene with protein product	"alpha-1 antiproteinase, antitrypsin"	106150		SERPINA8		6089875, 24172014	Standard	NM_000029		Approved		uc001hty.4	P01019	OTTHUMG00000037757	ENST00000366667.4:c.843C>T	1.37:g.230845754G>A							p.Y281Y	NM_000029.3	NP_000020.1	P01019	ANGT_HUMAN		GBM - Glioblastoma multiforme(131;4.4e-06)|Colorectal(1306;5.46e-06)|COAD - Colon adenocarcinoma(196;0.000256)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	2	1057	-	Breast(184;0.0735)|Ovarian(103;0.183)	all_cancers(173;4.64e-23)|all_epithelial(177;3.61e-18)|Breast(1374;0.00093)|all_neural(198;0.0604)|Prostate(94;0.167)	281		Y -> C (associated with susceptibility to hypertension; alters the structure, glycosylation and secretion of angiotensinogen; dbSNP:rs56073403).			Q16358|Q16359|Q96F91	Silent	SNP	ENST00000366667.4	37	c.843C>T	CCDS1585.1																																																																																				0.547	AGT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092102.1	NM_000029		63	98	0	0	0	1	0	63	98					A	230845754	G	A	230845754	2	1	435	1	0	0	0	0	0	0	0	1	399	1140	40	1		1	AGT	1	230845754	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	40652	230845754	18404867	895	21820											
TTC13	79573	broad.mit.edu	37	chr1	231067184	231067184	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgagccctttcatatactggCacacttcattatatggctct	9	15	6	11	0	3	1	2	1	1	0	3	1	3	1	1	2	2	2	1	2	4	6			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:231067184C>T	ENST00000366661.4	-	11	1167	c.1160G>A	c.(1159-1161)tGc>tAc	p.C387Y	TTC13_ENST00000414259.1_Missense_Mutation_p.C334Y|TTC13_ENST00000366662.4_Missense_Mutation_p.C334Y	NM_024525.4	NP_078801.3	Q8NBP0	TTC13_HUMAN	tetratricopeptide repeat domain 13	387										central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	39	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.167)		COAD - Colon adenocarcinoma(196;0.243)		CATATACTGGCACACTTCATT	0.413																																						ENST00000366661.4																			0				central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	39						c.(1159-1161)tGc>tAc		tetratricopeptide repeat domain 13							130	122	125					1																	231067184		2203	4300	6503	SO:0001583	missense	79573						binding	g.chr1:231067184C>T		CCDS1588.1, CCDS44332.1, CCDS44332.2	1q42.2	2013-01-10			ENSG00000143643	ENSG00000143643		"Tetratricopeptide (TTC) repeat domain containing"	26204	protein-coding gene	gene with protein product							Standard	NM_024525		Approved	FLJ22584	uc001huf.4	Q8NBP0	OTTHUMG00000037788	ENST00000366661.4:c.1160G>A	1.37:g.231067184C>T	ENSP00000355621:p.Cys387Tyr					TTC13_ENST00000366662.4_Missense_Mutation_p.C334Y|TTC13_ENST00000414259.1_Missense_Mutation_p.C334Y	p.C387Y	NM_024525.4	NP_078801.3	Q8NBP0	TTC13_HUMAN		COAD - Colon adenocarcinoma(196;0.243)	11	1167	-	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.167)	387					B1AQI1|B1AQI2|Q8IVP8|Q8NBI0|Q8ND20	Missense_Mutation	SNP	ENST00000366661.4	37	c.1160G>A	CCDS1588.1	.	.	.	.	.	.	.	.	.	.	C	15.62	2.886906	0.52014	.	.	ENSG00000143643	ENST00000366661;ENST00000366662;ENST00000414259	T;T;T	0.59906	1.35;0.23;0.23	5.77	5.77	0.91146	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.85682	D	0.000000	T	0.68403	0.2997	L	0.29908	0.895	0.80722	D	1	B;D;B;B	0.71674	0.131;0.998;0.023;0.078	B;D;B;B	0.78314	0.043;0.991;0.015;0.043	T	0.69807	-0.5045	10	0.62326	D	0.03	-12.2921	19.9923	0.97371	0.0:1.0:0.0:0.0	.	312;334;334;387	Q69YR0;E9PGV4;Q8NBP0-2;Q8NBP0	.;.;.;TTC13_HUMAN	Y	387;334;334	ENSP00000355621:C387Y;ENSP00000355622:C334Y;ENSP00000416631:C334Y	ENSP00000355621:C387Y	C	-	2	0	TTC13	229133807	1.000000	0.71417	1.000000	0.80357	0.406000	0.30931	7.743000	0.85020	2.729000	0.93468	0.585000	0.79938	TGC		0.413	TTC13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092229.2	NM_024525		30	44	0	0	0	1	0	30	44					T	231067184	C	T	231067184	3	4	435	1	0	0	0	0	1	0	0	0	16677	710	25	3	1474	3	TTC13	1	231067184	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	221430	231067184	18183437	896	21821											
ARV1	64801	broad.mit.edu	37	chr1	231132996	231132996	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgattatgccatctttaaatCtcaggacttctgaagaggta	12	14	8	7	0	3	3	1	2	3	1	4	4	3	4	1	2	1	1	1	2	5	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:231132996C>T	ENST00000310256.2	+	5	860	c.803C>T	c.(802-804)tCt>tTt	p.S268F	ARV1_ENST00000366658.2_Missense_Mutation_p.S228F	NM_022786.1	NP_073623.1	Q9H2C2	ARV1_HUMAN	ARV1 homolog (S. cerevisiae)	268					bile acid metabolic process (GO:0008206)|cholesterol transport (GO:0030301)|regulation of cholesterol metabolic process (GO:0090181)|sphingolipid metabolic process (GO:0006665)	integral component of membrane (GO:0016021)				breast(3)|large_intestine(2)|lung(2)	7	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.178)		COAD - Colon adenocarcinoma(196;0.211)|Colorectal(1306;0.233)		ATCTTTAAATCTCAGGACTTC	0.423																																						ENST00000310256.2																			0				breast(3)|large_intestine(2)|lung(2)	7						c.(802-804)tCt>tTt		ARV1 homolog (S. cerevisiae)							225	200	209					1																	231132996		2203	4300	6503	SO:0001583	missense	64801				sphingolipid metabolic process	integral to membrane		g.chr1:231132996C>T	AF271780	CCDS1589.1	1q42.2	2014-02-03	2006-04-04		ENSG00000173409	ENSG00000173409			29561	protein-coding gene	gene with protein product		611647	"ARV1 homolog (yeast)"			11063737, 12145310, 20663892	Standard	NM_022786		Approved		uc001huh.3	Q9H2C2	OTTHUMG00000037837	ENST00000310256.2:c.803C>T	1.37:g.231132996C>T	ENSP00000312458:p.Ser268Phe					ARV1_ENST00000366658.2_Missense_Mutation_p.S228F	p.S268F	NM_022786.1	NP_073623.1	Q9H2C2	ARV1_HUMAN		COAD - Colon adenocarcinoma(196;0.211)|Colorectal(1306;0.233)	5	860	+	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.178)	268					A8KAI4|Q5VSN7|Q5VSN8|Q5VSN9|Q5VSP0|Q5VSP2|Q9H2H2|Q9H5V6|Q9UFF5	Missense_Mutation	SNP	ENST00000310256.2	37	c.803C>T	CCDS1589.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	10.96|10.96	1.498369|1.498369	0.26861|0.26861	.|.	.|.	ENSG00000173409|ENSG00000173409	ENST00000450711;ENST00000435927|ENST00000310256;ENST00000366658	.|T;T	.|0.15372	.|2.43;2.43	4.42|4.42	1.3|1.3	0.21679|0.21679	.|.	.|1.075820	.|0.07239	.|N	.|0.863904	T|T	0.10981|0.10981	0.0268|0.0268	N|N	0.24115|0.24115	0.695|0.695	0.09310|0.09310	N|N	1|1	.|B	.|0.02656	.|0.0	.|B	.|0.04013	.|0.001	T|T	0.39800|0.39800	-0.9596|-0.9596	5|9	.|.	.|.	.|.	-0.6929|-0.6929	6.201|6.201	0.20575|0.20575	0.3135:0.5976:0.0:0.0889|0.3135:0.5976:0.0:0.0889	.|.	.|268	.|Q9H2C2	.|ARV1_HUMAN	F|F	265;288|268;228	.|ENSP00000312458:S268F;ENSP00000355618:S228F	.|.	L|S	+|+	1|2	0|0	ARV1|ARV1	229199619|229199619	0.037000|0.037000	0.19845|0.19845	0.081000|0.081000	0.20488|0.20488	0.720000|0.720000	0.41350|0.41350	0.215000|0.215000	0.17562|0.17562	0.175000|0.175000	0.19841|0.19841	0.645000|0.645000	0.84053|0.84053	CTC|TCT		0.423	ARV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092362.2	NM_022786		27	41	0	0	0	1	0	27	41					T	231132996	C	T	231132996	3	4	435	1	0	0	0	0	1	0	0	0	1002	913	32	3	821	3	ARV1	1	231132996	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	65812	231132996	18117625	897	21822											
TRIM67	440730	broad.mit.edu	37	chr1	231339665	231339665	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgctgcacccgtaacaacagCgtcacgctggcctggaggat	9	7	12	13	3	1	0	1	0	0	0	1	2	1	2	2	3	5	4	2	3	2	1	rs376273835		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:231339665C>T	ENST00000366653.5	+	6	1587	c.1587C>T	c.(1585-1587)agC>agT	p.S529S	TRIM67_ENST00000449018.3_Silent_p.S467S|TRIM67_ENST00000444294.3_Silent_p.S527S|TRIM67_ENST00000366652.2_Silent_p.S529S			Q6ZTA4	TRI67_HUMAN	tripartite motif containing 67	529	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.				negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	zinc ion binding (GO:0008270)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29	Breast(184;0.0871)	all_cancers(173;0.189)|Prostate(94;0.167)				GTAACAACAGCGTCACGCTGG	0.662													C|||	1	0.000199681	8e-04	0	5008	,	,		17998	0		0	False		,,,				2504	0					ENST00000444294.3																			0				breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29						c.(1579-1581)agC>agT		tripartite motif containing 67		C		5,4221		0,5,2108	48	57	54		1587	-6.9	0.9	1		54	0,8434		0,0,4217	no	coding-synonymous	TRIM67	NM_001004342.3		0,5,6325	TT,TC,CC		0.0,0.1183,0.0395		529/784	231339665	5,12655	2113	4217	6330	SO:0001819	synonymous_variant	440730					cytoplasm|cytoskeleton	zinc ion binding	g.chr1:231339665C>T	AK126782	CCDS44333.1, CCDS73048.1	1q42.2	2014-02-17	2011-01-25		ENSG00000119283	ENSG00000119283		"Tripartite motif containing / Tripartite motif containing", "Fibronectin type III domain containing", "RING-type (C3HC4) zinc fingers"	31859	protein-coding gene	gene with protein product		610584	"tripartite motif-containing 67"				Standard	NM_001004342		Approved	TNL	uc009xfn.1	Q6ZTA4	OTTHUMG00000037958	ENST00000366653.5:c.1587C>T	1.37:g.231339665C>T						TRIM67_ENST00000449018.3_Silent_p.S467S|TRIM67_ENST00000366653.5_Silent_p.S529S|TRIM67_ENST00000366652.2_Silent_p.S529S	p.S527S	NM_001004342.3	NP_001004342.3	Q6ZTA4	TRI67_HUMAN			6	2439	+	Breast(184;0.0871)	all_cancers(173;0.189)|Prostate(94;0.167)	529			Fibronectin type-III.		Q5TER7|Q5TER8|Q7Z4K7	Silent	SNP	ENST00000366653.5	37	c.1581C>T	CCDS44333.1																																																																																				0.662	TRIM67-001	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000092649.3	NM_001004342		14	15	0	0	0	1	0	14	15					T	231339665	C	T	231339665	2	4	435	1	0	0	0	0	0	0	0	1	16537	767	27	1		1	TRIM67	1	231339665	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	206669	231339665	17910956	898	21823											
GNPAT	8443	broad.mit.edu	37	chr1	231396268	231396268	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tttagctttccaaggaatccCttcaatctgtggatgtcctc	8	15	7	11	0	2	0	1	0	1	0	6	2	5	2	3	2	1	1	3	2	4	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:231396268C>A	ENST00000366647.4	+	3	446	c.277C>A	c.(277-279)Ctt>Att	p.L93I	GNPAT_ENST00000366646.3_Missense_Mutation_p.L32I	NM_014236.3	NP_055051.1	O15228	GNPAT_HUMAN	glyceronephosphate O-acyltransferase	93					cellular lipid metabolic process (GO:0044255)|cerebellum morphogenesis (GO:0021587)|ether lipid biosynthetic process (GO:0008611)|glycerophospholipid biosynthetic process (GO:0046474)|membrane organization (GO:0061024)|paranodal junction assembly (GO:0030913)|phosphatidic acid biosynthetic process (GO:0006654)|phospholipid metabolic process (GO:0006644)|response to drug (GO:0042493)|response to fatty acid (GO:0070542)|response to nutrient (GO:0007584)|response to starvation (GO:0042594)|small molecule metabolic process (GO:0044281)|synapse assembly (GO:0007416)	membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	glycerone-phosphate O-acyltransferase activity (GO:0016287)|palmitoyl-CoA hydrolase activity (GO:0016290)|receptor binding (GO:0005102)			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|prostate(1)|skin(1)	23	Breast(184;0.0871)	all_cancers(173;0.2)|Prostate(94;0.183)				CAAGGAATCCCTTCAATCTGT	0.408																																						ENST00000366647.4																			0				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|prostate(1)|skin(1)	23						c.(277-279)Ctt>Att		glyceronephosphate O-acyltransferase							166	172	170					1																	231396268		2203	4300	6503	SO:0001583	missense	8443				ether lipid biosynthetic process|fatty acid metabolic process|organ morphogenesis	peroxisomal matrix|peroxisomal membrane	glycerone-phosphate O-acyltransferase activity	g.chr1:231396268C>A	AF043937	CCDS1592.1	1q42	2008-02-05			ENSG00000116906	ENSG00000116906	2.3.1.42		4416	protein-coding gene	gene with protein product		602744				9459311, 9536089	Standard	NM_014236		Approved	DHAPAT, DAPAT, DAP-AT	uc001hup.4	O15228	OTTHUMG00000038024	ENST00000366647.4:c.277C>A	1.37:g.231396268C>A	ENSP00000355607:p.Leu93Ile					GNPAT_ENST00000366646.3_Missense_Mutation_p.L32I	p.L93I	NM_014236.3	NP_055051.1	O15228	GNPAT_HUMAN			3	446	+	Breast(184;0.0871)	all_cancers(173;0.2)|Prostate(94;0.183)	93					B4DNM9|Q5TBH7|Q9BWC2	Missense_Mutation	SNP	ENST00000366647.4	37	c.277C>A	CCDS1592.1	.	.	.	.	.	.	.	.	.	.	C	13.73	2.325058	0.41197	.	.	ENSG00000116906	ENST00000436239;ENST00000366647;ENST00000366646;ENST00000416000	D;T;T;T	0.85773	-2.03;-0.04;-0.03;-0.03	5.74	1.5	0.22942	.	0.601510	0.16593	N	0.207678	T	0.76637	0.4015	L	0.44542	1.39	0.09310	N	1	B;B	0.13594	0.008;0.003	B;B	0.15484	0.013;0.003	T	0.63616	-0.6597	10	0.39692	T	0.17	-21.7091	6.813	0.23814	0.1112:0.3085:0.5049:0.0754	.	32;93	B4DNM9;O15228	.;GNPAT_HUMAN	I	32;93;32;93	ENSP00000402811:L32I;ENSP00000355607:L93I;ENSP00000355606:L32I;ENSP00000411640:L93I	ENSP00000355606:L32I	L	+	1	0	GNPAT	229462891	0.899000	0.30636	0.002000	0.10522	0.900000	0.52787	2.732000	0.47352	0.338000	0.23692	0.563000	0.77884	CTT		0.408	GNPAT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000092871.1			51	87	1	0	1.46357e-32	1	1.64217e-32	51	87					A	231396268	C	A	231396268	3	1	435	1	0	0	0	0	1	0	0	0	6541	681	24	5	287	5	GNPAT	1	231396268	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	56603	231396268	17854353	899	21824											
EXOC8	149371	broad.mit.edu	37	chr1	231471746	231471746	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcttacccagggcttctggCgtcatcaagttcatcctcct	7	12	8	14	1	4	0	3	0	1	0	6	0	6	0	3	2	2	3	3	2	2	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:231471746C>T	ENST00000360394.2	-	1	1832	c.1746G>A	c.(1744-1746)acG>acA	p.T582T	SPRTN_ENST00000295050.7_5'Flank|EXOC8_ENST00000366645.1_Silent_p.T578T|SPRTN_ENST00000008440.9_5'Flank|SPRTN_ENST00000391858.4_5'Flank	NM_175876.3	NP_787072.2	Q8IYI6	EXOC8_HUMAN	exocyst complex component 8	582					cellular protein localization (GO:0034613)|cellular protein metabolic process (GO:0044267)|exocytosis (GO:0006887)|membrane organization (GO:0061024)|protein transport (GO:0015031)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|exocyst (GO:0000145)|membrane (GO:0016020)|plasma membrane (GO:0005886)				cervix(2)|endometrium(1)|large_intestine(2)|liver(1)|lung(5)|prostate(1)|skin(1)|stomach(1)	14	Breast(184;0.0871)	all_cancers(173;0.151)|Prostate(94;0.183)				GGGCTTCTGGCGTCATCAAGT	0.458																																						ENST00000366645.1																			0				cervix(2)|endometrium(1)|large_intestine(2)|liver(1)|lung(5)|prostate(1)|skin(1)|stomach(1)	14						c.(1732-1734)acG>acA		exocyst complex component 8							119	116	117					1																	231471746		2203	4300	6503	SO:0001819	synonymous_variant	149371				exocytosis|protein transport	growth cone|nucleus	protein binding	g.chr1:231471746C>T	AL117352	CCDS1593.1	1q42.2	2013-01-22			ENSG00000116903	ENSG00000116903			24659	protein-coding gene	gene with protein product		615283				12477932	Standard	NM_175876		Approved	SEC84, EXO84, Exo84p	uc001huq.3	Q8IYI6	OTTHUMG00000038025	ENST00000360394.2:c.1746G>A	1.37:g.231471746C>T						EXOC8_ENST00000360394.2_Silent_p.T582T	p.T578T			Q8IYI6	EXOC8_HUMAN			1	1852	-	Breast(184;0.0871)	all_cancers(173;0.151)|Prostate(94;0.183)	582					B3KU33|Q5TE82	Silent	SNP	ENST00000360394.2	37	c.1734G>A	CCDS1593.1																																																																																				0.458	EXOC8-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_175876		12	64	0	0	0	1	0	12	64					T	231471746	C	T	231471746	2	4	435	1	0	0	0	0	0	0	0	1	5311	755	27	1		1	EXOC8	1	231471746	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	75478	231471746	17778875	900	21825											
SIPA1L2	57568	broad.mit.edu	37	chr1	232564227	232564227	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gaaaatcttctttagacagaAcatgttgagtctctgcaaca	14	12	7	8	0	3	3	0	1	3	2	4	4	3	3	0	0	3	2	0	0	5	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:232564227A>G	ENST00000366630.1	-	16	4698	c.4340T>C	c.(4339-4341)gTt>gCt	p.V1447A	SIPA1L2_ENST00000308942.4_Missense_Mutation_p.V521A|SIPA1L2_ENST00000262861.4_Missense_Mutation_p.V1447A			Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like 2	1447					regulation of small GTPase mediated signal transduction (GO:0051056)		GTPase activator activity (GO:0005096)			NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				TTTAGACAGAACATGTTGAGT	0.453																																						ENST00000366630.1																			0				NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103						c.(4339-4341)gTt>gCt		signal-induced proliferation-associated 1 like 2							81	75	77					1																	232564227		1897	4125	6022	SO:0001583	missense	57568				regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity	g.chr1:232564227A>G	AB037810	CCDS41474.1	1q42.2	2008-02-05			ENSG00000116991	ENSG00000116991			23800	protein-coding gene	gene with protein product		611609					Standard	NM_020808		Approved	KIAA1389	uc001hvg.3	Q9P2F8	OTTHUMG00000037820	ENST00000366630.1:c.4340T>C	1.37:g.232564227A>G	ENSP00000355589:p.Val1447Ala					SIPA1L2_ENST00000262861.4_Missense_Mutation_p.V1447A|SIPA1L2_ENST00000308942.4_Missense_Mutation_p.V521A	p.V1447A			Q9P2F8	SI1L2_HUMAN			16	4698	-		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)	1447					Q2TV88|Q5VXR7|Q5VXR8|Q641Q4|Q8NA38|Q96DZ3|Q9H9F6	Missense_Mutation	SNP	ENST00000366630.1	37	c.4340T>C	CCDS41474.1	.	.	.	.	.	.	.	.	.	.	A	9.486	1.099314	0.20552	.	.	ENSG00000116991	ENST00000366630;ENST00000262861;ENST00000308942	T;T;T	0.29655	1.56;1.56;1.56	5.86	4.67	0.58626	.	0.553805	0.18176	N	0.149284	T	0.22044	0.0531	N	0.25647	0.755	0.31764	N	0.632917	B;P	0.39022	0.164;0.655	B;B	0.40677	0.09;0.337	T	0.06006	-1.0851	10	0.11485	T	0.65	-17.8082	11.6852	0.51481	0.7289:0.2711:0.0:0.0	.	1447;521	Q9P2F8;Q9P2F8-2	SI1L2_HUMAN;.	A	1447;1447;521	ENSP00000355589:V1447A;ENSP00000262861:V1447A;ENSP00000309102:V521A	ENSP00000262861:V1447A	V	-	2	0	SIPA1L2	230630850	0.906000	0.30813	0.390000	0.26220	0.605000	0.37080	3.085000	0.50151	2.241000	0.73720	0.533000	0.62120	GTT		0.453	SIPA1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092318.1	XM_045839		33	44	0	0	0	1	0	33	44					G	232564227	A	G	232564227	3	3	435	1	0	0	0	0	1	0	0	0	14330	43	2	4	856	4	SIPA1L2	1	232564227	Missense_Mutation	SNP	A	TCGA-XK-AAIW-01A-11D-A41K-08	1092481	232564227	16686394	901	21826											
KIAA1383	54627	broad.mit.edu	37	chr1	232940773	232940773	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gaacagcagacacagagatgGcccactgtggacagttaact	14	6	11	10	0	0	2	0	0	0	2	0	5	0	3	1	2	3	2	1	2	2	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:232940773G>A	ENST00000418460.1	+	1	131	c.4G>A	c.(4-6)Gcc>Acc	p.A2T		NM_019090.2	NP_061963.2	Q9P2G4	MAP10_HUMAN	microtubule-associated protein 10	0					cytoplasmic microtubule organization (GO:0031122)|positive regulation of cytokinesis (GO:0032467)|regulation of microtubule-based process (GO:0032886)|spindle midzone assembly involved in mitosis (GO:0051256)	centrosome (GO:0005813)|cytoplasmic microtubule (GO:0005881)|midbody (GO:0030496)|mitotic spindle midzone (GO:1990023)|mitotic spindle pole (GO:0097431)	microtubule binding (GO:0008017)										CACAGAGATGGCCCACTGTGG	0.483																																						ENST00000418460.1																			0											c.(4-6)Gcc>Acc		microtubule-associated protein 10							128	126	127					1																	232940773		1947	4155	6102	SO:0001583	missense	54627							g.chr1:232940773G>A	AB037804	CCDS44334.1	1q42.2	2013-02-12	2013-02-12	2013-02-12	ENSG00000212916	ENSG00000212916			29265	protein-coding gene	gene with protein product	"microtubule regulator 120 KDa"		"KIAA1383"	KIAA1383		23264731	Standard	NM_019090		Approved	MTR120	uc001hvh.2	Q9P2G4	OTTHUMG00000037819	ENST00000418460.1:c.4G>A	1.37:g.232940773G>A	ENSP00000403208:p.Ala2Thr						p.A2T	NM_019090.2	NP_061963.2					1	131	+								A8K2F1|Q32MI1|Q58EZ9|Q5VV83	Missense_Mutation	SNP	ENST00000418460.1	37	c.4G>A	CCDS44334.1	.	.	.	.	.	.	.	.	.	.	G	16.12	3.033888	0.54896	.	.	ENSG00000212916	ENST00000418460	.	.	.	2.5	2.5	0.30297	.	.	.	.	.	T	0.44201	0.1282	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.37103	-0.9720	5	0.87932	D	0	.	8.6157	0.33831	0.0:0.0:1.0:0.0	.	.	.	.	T	2	.	ENSP00000403208:A2T	A	+	1	0	KIAA1383	231007396	0.011000	0.17503	0.002000	0.10522	0.012000	0.07955	2.770000	0.47662	1.714000	0.51371	0.313000	0.20887	GCC		0.483	MAP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092317.3	NM_019090		4	75	0	0	0	1	0	4	75					A	232940773	G	A	232940773	3	1	435	1	0	0	0	0	1	0	0	0	8228	1203	42	3	6	3	KIAA1383	1	232940773	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	376546	232940773	16309848	902	21827											
PCNXL2	80003	broad.mit.edu	37	chr1	233353643	233353643	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttgcctgtatttggaaacttAcgtgtattggtgaggcgggg	7	14	15	5	2	0	1	0	1	0	0	0	2	0	2	1	5	3	2	1	5	4	6			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:233353643A>G	ENST00000258229.9	-	12	2926		c.e12+1		PCNXL2_ENST00000430153.1_Splice_Site|PCNXL2_ENST00000488780.2_Splice_Site	NM_014801.3	NP_055616.3	A6NKB5	PCX2_HUMAN	pecanex-like 2 (Drosophila)							integral component of membrane (GO:0016021)				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				TTGGAAACTTACGTGTATTGG	0.433																																						ENST00000258229.8																			0				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86						c.e12+1		pecanex-like 2 (Drosophila)							74	71	72					1																	233353643		1916	4116	6032	SO:0001630	splice_region_variant	80003					integral to membrane		g.chr1:233353643A>G	AK055374	CCDS44335.1	1q42.2	2008-02-05	2001-11-28		ENSG00000135749	ENSG00000135749			8736	protein-coding gene	gene with protein product			"pecanex (Drosophila)-like 2"			12477932	Standard	NM_014801		Approved	KIAA0435, FLJ11383	uc001hvl.2	A6NKB5	OTTHUMG00000037824	ENST00000258229.9:c.2691+1T>C	1.37:g.233353643A>G						PCNXL2_ENST00000488780.2_Splice_Site|PCNXL2_ENST00000430153.1_Splice_Site		NM_014801.3	NP_055616.3	A6NKB5	PCX2_HUMAN			12	2926	-		all_cancers(173;0.0347)|Prostate(94;0.137)						O43162|Q5T9Z8|Q5TDF1|Q8TEP4|Q96HP9|Q9HAL8	Splice_Site	SNP	ENST00000258229.9	37		CCDS44335.1	.	.	.	.	.	.	.	.	.	.	A	21.1	4.102662	0.76983	.	.	ENSG00000135749	ENST00000258229;ENST00000488780;ENST00000430153	.	.	.	5.48	5.48	0.80851	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.8579	0.78994	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PCNXL2	231420266	1.000000	0.71417	0.998000	0.56505	0.967000	0.64934	8.604000	0.90877	2.191000	0.70037	0.528000	0.53228	.		0.433	PCNXL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092480.3	NM_014801	Intron	8	15	0	0	0	1	0	8	15					G	233353643	A	G	233353643	5	3	435	1	0	0	0	0	0	0	1	0	11592	405	14	4	3812	4	PCNXL2	1	233353643	Splice_Site	SNP	A	TCGA-XK-AAIW-01A-11D-A41K-08	412870	233353643	15896978	903	21828											
KIAA1804	84451	broad.mit.edu	37	chr1	233482357	233482357	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tccttgttttctaagggaagCgacatctggaggtgagcctt	8	13	12	8	1	2	1	0	1	2	0	3	4	3	3	2	3	2	1	2	3	2	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:233482357C>T	ENST00000366624.3	+	2	1236	c.975C>T	c.(973-975)agC>agT	p.S325S	MLK4_ENST00000366623.3_Silent_p.S325S	NM_032435.2	NP_115811.2																					CTAAGGGAAGCGACATCTGGA	0.478																																						ENST00000366624.3																			0											c.(973-975)agC>agT									71	67	69					1																	233482357		2203	4300	6503	SO:0001819	synonymous_variant	0							g.chr1:233482357C>T																												ENST00000366624.3:c.975C>T	1.37:g.233482357C>T						MLK4_ENST00000366623.3_Silent_p.S325S	p.S325S	NM_032435.2	NP_115811.2					2	1236	+									Silent	SNP	ENST00000366624.3	37	c.975C>T	CCDS1598.1																																																																																				0.478	MLK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092495.1			14	20	0	0	0	1	0	14	20					T	233482357	C	T	233482357	2	4	435	1	0	0	0	0	0	0	0	1	8259	767	27	1		1	KIAA1804	1	233482357	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	128714	233482357	15768264	904	21829											
KCNK1	3775	broad.mit.edu	37	chr1	233802347	233802347	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgttctccttgcaggttatgGccacaccgtgcccttgtcag	5	13	10	13	1	2	0	1	0	1	0	3	0	2	0	4	2	2	3	4	2	1	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:233802347G>A	ENST00000366621.3	+	2	530	c.362G>A	c.(361-363)gGc>gAc	p.G121D	KCNK1_ENST00000472190.1_3'UTR|KCNK1_ENST00000366620.1_Missense_Mutation_p.G5D	NM_002245.3	NP_002236.1	O00180	KCNK1_HUMAN	potassium channel, subfamily K, member 1	121					potassium ion transport (GO:0006813)|response to nicotine (GO:0035094)|synaptic transmission (GO:0007268)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|endosome (GO:0005768)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	inward rectifier potassium channel activity (GO:0005242)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)	11		all_cancers(173;0.00217)|all_epithelial(177;0.121)|Prostate(94;0.122)|Acute lymphoblastic leukemia(190;0.175)			Ibutilide(DB00308)|Quinidine barbiturate(DB01346)|Quinidine(DB00908)	GCAGGTTATGGCCACACCGTG	0.502																																						ENST00000366621.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)	11						c.(361-363)gGc>gAc		potassium channel, subfamily K, member 1	Ibutilide(DB00308)|Quinidine(DB00908)						165	118	134					1																	233802347		2203	4300	6503	SO:0001583	missense	3775					voltage-gated potassium channel complex	inward rectifier potassium channel activity	g.chr1:233802347G>A	U33632	CCDS1599.1	1q42-q43	2012-03-07			ENSG00000135750	ENSG00000135750		"Potassium channels", "Voltage-gated ion channels / Potassium channels, Two-P"	6272	protein-coding gene	gene with protein product		601745				8661042, 16382106	Standard	NM_002245		Approved	K2p1.1, DPK, TWIK-1	uc010pxo.1	O00180	OTTHUMG00000037923	ENST00000366621.3:c.362G>A	1.37:g.233802347G>A	ENSP00000355580:p.Gly121Asp					KCNK1_ENST00000366620.1_Missense_Mutation_p.G5D|KCNK1_ENST00000472190.1_3'UTR	p.G121D	NM_002245.3	NP_002236.1	O00180	KCNK1_HUMAN			2	530	+		all_cancers(173;0.00217)|all_epithelial(177;0.121)|Prostate(94;0.122)|Acute lymphoblastic leukemia(190;0.175)	121					Q13307|Q5T5E8	Missense_Mutation	SNP	ENST00000366621.3	37	c.362G>A	CCDS1599.1	.	.	.	.	.	.	.	.	.	.	G	34	5.374543	0.95923	.	.	ENSG00000135750	ENST00000366621;ENST00000366620;ENST00000446915	D;T;T	0.82893	-1.66;-0.92;-0.92	5.91	5.91	0.95273	Ion transport 2 (1);	0.000000	0.85682	D	0.000000	D	0.94178	0.8132	H	0.94734	3.575	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.94917	0.8070	10	0.87932	D	0	.	20.2985	0.98592	0.0:0.0:1.0:0.0	.	121	O00180	KCNK1_HUMAN	D	121;5;39	ENSP00000355580:G121D;ENSP00000355579:G5D;ENSP00000409626:G39D	ENSP00000355579:G5D	G	+	2	0	KCNK1	231868970	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.612000	0.98347	2.793000	0.96121	0.655000	0.94253	GGC		0.502	KCNK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092565.1	NM_002245		18	13	0	0	0	1	0	18	13					A	233802347	G	A	233802347	3	1	435	1	0	0	0	0	1	0	0	0	8058	1203	42	3	368	3	KCNK1	1	233802347	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	319990	233802347	15448274	905	21830											
SLC35F3	148641	broad.mit.edu	37	chr1	234367424	234367424	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggaactttttattcttccCgttgtactacgtggggcacg	6	15	10	10	3	1	0	0	0	1	0	2	1	2	1	1	3	3	3	1	3	4	8			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:234367424C>T	ENST00000366617.3	+	2	566	c.338C>T	c.(337-339)cCg>cTg	p.P113L	SLC35F3_ENST00000366618.3_Missense_Mutation_p.P182L			Q8IY50	S35F3_HUMAN	solute carrier family 35, member F3	113					thiamine transport (GO:0015888)	integral component of membrane (GO:0016021)		p.P182Q(1)		breast(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|urinary_tract(1)	32	Ovarian(103;0.0454)	all_cancers(173;0.145)|Prostate(94;0.0885)	OV - Ovarian serous cystadenocarcinoma(106;0.00531)			TTATTCTTCCCGTTGTACTAC	0.592																																						ENST00000366618.3																			1	Substitution - Missense(1)	p.P182Q(1)	lung(1)	breast(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|urinary_tract(1)	32						c.(544-546)cCg>cTg		solute carrier family 35, member F3							159	148	152					1																	234367424		2203	4300	6503	SO:0001583	missense	148641				transport	integral to membrane		g.chr1:234367424C>T		CCDS1600.1, CCDS73050.1	1q42.3	2013-05-22			ENSG00000183780	ENSG00000183780		"Solute carriers"	23616	protein-coding gene	gene with protein product							Standard	XM_005273070		Approved	FLJ37712	uc001hvy.1	Q8IY50	OTTHUMG00000037929	ENST00000366617.3:c.338C>T	1.37:g.234367424C>T	ENSP00000355576:p.Pro113Leu					SLC35F3_ENST00000366617.3_Missense_Mutation_p.P113L	p.P182L	NM_173508.2	NP_775779.1	Q8IY50	S35F3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00531)		3	690	+	Ovarian(103;0.0454)	all_cancers(173;0.145)|Prostate(94;0.0885)	113					Q5TDD6|Q8N9C9	Missense_Mutation	SNP	ENST00000366617.3	37	c.545C>T		.	.	.	.	.	.	.	.	.	.	C	31	5.079561	0.94050	.	.	ENSG00000183780	ENST00000366618;ENST00000366617	T;T	0.57273	0.48;0.41	4.61	4.61	0.57282	.	0.000000	0.85682	D	0.000000	T	0.71626	0.3362	M	0.70595	2.14	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	T	0.72773	-0.4192	10	0.44086	T	0.13	-15.5439	17.6017	0.88027	0.0:1.0:0.0:0.0	.	113;182	Q8IY50;Q8IY50-2	S35F3_HUMAN;.	L	182;113	ENSP00000355577:P182L;ENSP00000355576:P113L	ENSP00000355576:P113L	P	+	2	0	SLC35F3	232434047	1.000000	0.71417	0.934000	0.37439	0.982000	0.71751	7.061000	0.76699	2.364000	0.80123	0.591000	0.81541	CCG		0.592	SLC35F3-002	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000128322.1	NM_173508		10	216	0	0	0	1	0	10	216					T	234367424	C	T	234367424	3	4	435	1	0	0	0	0	1	0	0	0	14590	652	23	2	555	2	SLC35F3	1	234367424	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	565077	234367424	14883197	906	21831											
SLC35F3	148641	broad.mit.edu	37	chr1	234367480	234367480	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agaagcagtctgtgaagcagCgatacaggtaggcgcgtcct	11	7	14	9	3	1	2	0	1	1	1	2	3	2	2	1	2	4	3	1	2	4	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:234367480C>T	ENST00000366617.3	+	2	622	c.394C>T	c.(394-396)Cga>Tga	p.R132*	SLC35F3_ENST00000366618.3_Nonsense_Mutation_p.R201*			Q8IY50	S35F3_HUMAN	solute carrier family 35, member F3	132					thiamine transport (GO:0015888)	integral component of membrane (GO:0016021)				breast(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|urinary_tract(1)	32	Ovarian(103;0.0454)	all_cancers(173;0.145)|Prostate(94;0.0885)	OV - Ovarian serous cystadenocarcinoma(106;0.00531)			TGTGAAGCAGCGATACAGGTA	0.602																																						ENST00000366618.3																			0				breast(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|urinary_tract(1)	32						c.(601-603)Cga>Tga		solute carrier family 35, member F3							101	95	97					1																	234367480		2203	4300	6503	SO:0001587	stop_gained	148641				transport	integral to membrane		g.chr1:234367480C>T		CCDS1600.1, CCDS73050.1	1q42.3	2013-05-22			ENSG00000183780	ENSG00000183780		"Solute carriers"	23616	protein-coding gene	gene with protein product							Standard	XM_005273070		Approved	FLJ37712	uc001hvy.1	Q8IY50	OTTHUMG00000037929	ENST00000366617.3:c.394C>T	1.37:g.234367480C>T	ENSP00000355576:p.Arg132*					SLC35F3_ENST00000366617.3_Nonsense_Mutation_p.R132*	p.R201*	NM_173508.2	NP_775779.1	Q8IY50	S35F3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00531)		3	746	+	Ovarian(103;0.0454)	all_cancers(173;0.145)|Prostate(94;0.0885)	132					Q5TDD6|Q8N9C9	Nonsense_Mutation	SNP	ENST00000366617.3	37	c.601C>T		.	.	.	.	.	.	.	.	.	.	C	32	5.162824	0.94727	.	.	ENSG00000183780	ENST00000366618;ENST00000366617	.	.	.	4.47	-1.05	0.10036	.	0.085006	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.15499	T	0.54	-2.1846	13.6962	0.62580	0.4738:0.5262:0.0:0.0	.	.	.	.	X	201;132	.	ENSP00000355576:R132X	R	+	1	2	SLC35F3	232434103	1.000000	0.71417	0.987000	0.45799	0.268000	0.26511	2.920000	0.48844	-0.392000	0.07751	-2.023000	0.00429	CGA		0.602	SLC35F3-002	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000128322.1	NM_173508		58	75	0	0	0	1	0	58	75					T	234367480	C	T	234367480	4	4	435	1	0	0	0	0	0	1	0	0	14590	760	27	1	611	1	SLC35F3	1	234367480	Nonsense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	56	234367480	14883141	907	21832											
TARBP1	6894	broad.mit.edu	37	chr1	234534276	234534276	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tcttcaataaggcctgaaagGcgtggaaggatgtaaaatat	15	10	11	5	1	2	1	1	1	1	0	2	3	2	3	1	4	0	1	1	4	7	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:234534276G>A	ENST00000040877.1	-	26	4094	c.4095C>T	c.(4093-4095)cgC>cgT	p.R1365R	TARBP1_ENST00000483404.1_Intron	NM_005646.3	NP_005637.3	Q13395	TARB1_HUMAN	TAR (HIV-1) RNA binding protein 1	1365					regulation of transcription from RNA polymerase II promoter (GO:0006357)|RNA processing (GO:0006396)	nucleus (GO:0005634)	RNA binding (GO:0003723)|RNA methyltransferase activity (GO:0008173)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(7)|large_intestine(6)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	55	Ovarian(103;0.0339)	all_cancers(173;0.00995)|Prostate(94;0.0115)|all_epithelial(177;0.172)	OV - Ovarian serous cystadenocarcinoma(106;0.000263)			GGCCTGAAAGGCGTGGAAGGA	0.318																																						ENST00000040877.1																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(7)|large_intestine(6)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	55						c.(4093-4095)cgC>cgT		TAR (HIV-1) RNA binding protein 1							67	69	69					1																	234534276		2203	4300	6503	SO:0001819	synonymous_variant	6894				regulation of transcription from RNA polymerase II promoter|RNA processing	nucleus	RNA binding|RNA methyltransferase activity	g.chr1:234534276G>A		CCDS1601.1	1q42.2	2012-06-12	2007-06-26		ENSG00000059588	ENSG00000059588			11568	protein-coding gene	gene with protein product	"tRNA methyltransferase 3 homolog (S. cerevisiae)"	605052	"Tar (HIV-1) RNA binding protein 1"			1936997	Standard	NM_005646		Approved	TRP-185, TRM3	uc001hwd.3	Q13395	OTTHUMG00000037947	ENST00000040877.1:c.4095C>T	1.37:g.234534276G>A						TARBP1_ENST00000483404.1_Intron	p.R1365R	NM_005646.3	NP_005637.3	Q13395	TARB1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.000263)		26	4094	-	Ovarian(103;0.0339)	all_cancers(173;0.00995)|Prostate(94;0.0115)|all_epithelial(177;0.172)	1365					Q9H581	Silent	SNP	ENST00000040877.1	37	c.4095C>T	CCDS1601.1																																																																																				0.318	TARBP1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092616.1	NM_005646		15	8	0	0	0	1	0	15	8					A	234534276	G	A	234534276	2	1	435	1	0	0	0	0	0	0	0	1	15552	1190	42	3		3	TARBP1	1	234534276	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	166796	234534276	14716345	908	21833											
TARBP1	6894	broad.mit.edu	37	chr1	234536927	234536927	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aaatgatattctctactcacCtctagacaataatccttgag	14	13	4	10	0	3	3	1	2	2	1	5	3	4	3	2	0	1	0	2	0	6	6			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:234536927C>A	ENST00000040877.1	-	25	4070	c.4071G>T	c.(4069-4071)gaG>gaT	p.E1357D	TARBP1_ENST00000483404.1_5'UTR	NM_005646.3	NP_005637.3	Q13395	TARB1_HUMAN	TAR (HIV-1) RNA binding protein 1	1357					regulation of transcription from RNA polymerase II promoter (GO:0006357)|RNA processing (GO:0006396)	nucleus (GO:0005634)	RNA binding (GO:0003723)|RNA methyltransferase activity (GO:0008173)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(7)|large_intestine(6)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	55	Ovarian(103;0.0339)	all_cancers(173;0.00995)|Prostate(94;0.0115)|all_epithelial(177;0.172)	OV - Ovarian serous cystadenocarcinoma(106;0.000263)			CTCTACTCACCTCTAGACAAT	0.348																																						ENST00000040877.1																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(7)|large_intestine(6)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	55						c.e25+1		TAR (HIV-1) RNA binding protein 1							93	87	89					1																	234536927		2203	4300	6503	SO:0001630	splice_region_variant	6894				regulation of transcription from RNA polymerase II promoter|RNA processing	nucleus	RNA binding|RNA methyltransferase activity	g.chr1:234536927C>A		CCDS1601.1	1q42.2	2012-06-12	2007-06-26		ENSG00000059588	ENSG00000059588			11568	protein-coding gene	gene with protein product	"tRNA methyltransferase 3 homolog (S. cerevisiae)"	605052	"Tar (HIV-1) RNA binding protein 1"			1936997	Standard	NM_005646		Approved	TRP-185, TRM3	uc001hwd.3	Q13395	OTTHUMG00000037947	ENST00000040877.1:c.4071+1G>T	1.37:g.234536927C>A						TARBP1_ENST00000483404.1_5'UTR	p.E1357_splice	NM_005646.3	NP_005637.3	Q13395	TARB1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.000263)		25	4070	-	Ovarian(103;0.0339)	all_cancers(173;0.00995)|Prostate(94;0.0115)|all_epithelial(177;0.172)	1357					Q9H581	Splice_Site	SNP	ENST00000040877.1	37	c.4071_splice	CCDS1601.1	.	.	.	.	.	.	.	.	.	.	C	32	5.106802	0.94292	.	.	ENSG00000059588	ENST00000040877	T	0.09723	2.95	5.99	5.99	0.97316	.	0.000000	0.85682	D	0.000000	T	0.37652	0.1011	M	0.77616	2.38	0.80722	D	1	D	0.76494	0.999	D	0.77004	0.989	T	0.01413	-1.1361	9	.	.	.	-16.2085	20.4488	0.99124	0.0:1.0:0.0:0.0	.	1357	Q13395	TARB1_HUMAN	D	1357	ENSP00000040877:E1357D	.	E	-	3	2	TARBP1	232603550	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	5.303000	0.65738	2.843000	0.97960	0.655000	0.94253	GAG		0.348	TARBP1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092616.1	NM_005646	Missense_Mutation	12	19	1	0	4.3838e-07	1	4.58243e-07	12	19					A	234536927	C	A	234536927	5	1	435	1	0	0	0	0	0	0	1	0	15552	695	24	5	818	5	TARBP1	1	234536927	Splice_Site	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	2651	234536927	14713694	909	21834											
TARBP1	6894	broad.mit.edu	37	chr1	234556542	234556542	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	catagtagcgttttttggacTtggacactaattcatcctgg	9	15	9	8	1	1	0	1	0	0	0	2	2	2	2	1	3	1	2	1	3	3	8			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:234556542T>G	ENST00000040877.1	-	21	3460	c.3461A>C	c.(3460-3462)aAg>aCg	p.K1154T		NM_005646.3	NP_005637.3	Q13395	TARB1_HUMAN	TAR (HIV-1) RNA binding protein 1	1154					regulation of transcription from RNA polymerase II promoter (GO:0006357)|RNA processing (GO:0006396)	nucleus (GO:0005634)	RNA binding (GO:0003723)|RNA methyltransferase activity (GO:0008173)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(7)|large_intestine(6)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	55	Ovarian(103;0.0339)	all_cancers(173;0.00995)|Prostate(94;0.0115)|all_epithelial(177;0.172)	OV - Ovarian serous cystadenocarcinoma(106;0.000263)			TTTTTTGGACTTGGACACTAA	0.383																																						ENST00000040877.1																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(7)|large_intestine(6)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	55						c.(3460-3462)aAg>aCg		TAR (HIV-1) RNA binding protein 1							117	123	121					1																	234556542		2203	4300	6503	SO:0001583	missense	6894				regulation of transcription from RNA polymerase II promoter|RNA processing	nucleus	RNA binding|RNA methyltransferase activity	g.chr1:234556542T>G		CCDS1601.1	1q42.2	2012-06-12	2007-06-26		ENSG00000059588	ENSG00000059588			11568	protein-coding gene	gene with protein product	"tRNA methyltransferase 3 homolog (S. cerevisiae)"	605052	"Tar (HIV-1) RNA binding protein 1"			1936997	Standard	NM_005646		Approved	TRP-185, TRM3	uc001hwd.3	Q13395	OTTHUMG00000037947	ENST00000040877.1:c.3461A>C	1.37:g.234556542T>G	ENSP00000040877:p.Lys1154Thr						p.K1154T	NM_005646.3	NP_005637.3	Q13395	TARB1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.000263)		21	3460	-	Ovarian(103;0.0339)	all_cancers(173;0.00995)|Prostate(94;0.0115)|all_epithelial(177;0.172)	1154					Q9H581	Missense_Mutation	SNP	ENST00000040877.1	37	c.3461A>C	CCDS1601.1	.	.	.	.	.	.	.	.	.	.	T	14.41	2.528596	0.44969	.	.	ENSG00000059588	ENST00000040877	T	0.06933	3.24	5.74	-1.13	0.09775	Armadillo-type fold (1);	0.424262	0.27659	N	0.018393	T	0.06096	0.0158	L	0.50333	1.59	0.36888	D	0.88972	P	0.39282	0.666	B	0.35859	0.212	T	0.43327	-0.9398	10	0.25751	T	0.34	-3.4973	5.6379	0.17546	0.0:0.2863:0.2503:0.4634	.	1154	Q13395	TARB1_HUMAN	T	1154	ENSP00000040877:K1154T	ENSP00000040877:K1154T	K	-	2	0	TARBP1	232623165	0.969000	0.33509	0.956000	0.39512	0.868000	0.49771	0.617000	0.24359	-0.138000	0.11434	0.528000	0.53228	AAG		0.383	TARBP1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092616.1	NM_005646		19	38	0	0	0	1	0	19	38					G	234556542	T	G	234556542	3	3	435	1	0	0	0	0	1	0	0	0	15552	1609	56	5	1444	5	TARBP1	1	234556542	Missense_Mutation	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	19615	234556542	14694079	910	21835											
TARBP1	6894	broad.mit.edu	37	chr1	234561461	234561461	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agatcctcaataaacaacttGtgggacatattggagccatc	14	10	8	9	0	1	1	1	0	0	1	3	3	2	3	2	2	3	0	2	2	5	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:234561461G>A	ENST00000040877.1	-	20	3401	c.3402C>T	c.(3400-3402)caC>caT	p.H1134H		NM_005646.3	NP_005637.3	Q13395	TARB1_HUMAN	TAR (HIV-1) RNA binding protein 1	1134					regulation of transcription from RNA polymerase II promoter (GO:0006357)|RNA processing (GO:0006396)	nucleus (GO:0005634)	RNA binding (GO:0003723)|RNA methyltransferase activity (GO:0008173)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(7)|large_intestine(6)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	55	Ovarian(103;0.0339)	all_cancers(173;0.00995)|Prostate(94;0.0115)|all_epithelial(177;0.172)	OV - Ovarian serous cystadenocarcinoma(106;0.000263)			TAAACAACTTGTGGGACATAT	0.299																																						ENST00000040877.1																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(7)|large_intestine(6)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	55						c.(3400-3402)caC>caT		TAR (HIV-1) RNA binding protein 1							66	70	69					1																	234561461		2201	4296	6497	SO:0001819	synonymous_variant	6894				regulation of transcription from RNA polymerase II promoter|RNA processing	nucleus	RNA binding|RNA methyltransferase activity	g.chr1:234561461G>A		CCDS1601.1	1q42.2	2012-06-12	2007-06-26		ENSG00000059588	ENSG00000059588			11568	protein-coding gene	gene with protein product	"tRNA methyltransferase 3 homolog (S. cerevisiae)"	605052	"Tar (HIV-1) RNA binding protein 1"			1936997	Standard	NM_005646		Approved	TRP-185, TRM3	uc001hwd.3	Q13395	OTTHUMG00000037947	ENST00000040877.1:c.3402C>T	1.37:g.234561461G>A							p.H1134H	NM_005646.3	NP_005637.3	Q13395	TARB1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.000263)		20	3401	-	Ovarian(103;0.0339)	all_cancers(173;0.00995)|Prostate(94;0.0115)|all_epithelial(177;0.172)	1134					Q9H581	Silent	SNP	ENST00000040877.1	37	c.3402C>T	CCDS1601.1																																																																																				0.299	TARBP1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092616.1	NM_005646		23	23	0	0	0	1	0	23	23					A	234561461	G	A	234561461	2	1	435	1	0	0	0	0	0	0	0	1	15552	1368	48	3		3	TARBP1	1	234561461	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	4919	234561461	14689160	911	21836											
RBM34	23029	broad.mit.edu	37	chr1	235301420	235301420	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aattaccttttcaatgcttgCgtggcagcactctcctcctt	7	15	6	13	1	2	0	1	0	1	0	4	0	3	0	3	1	4	3	3	1	3	5	rs369954996		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:235301420C>T	ENST00000408888.3	-	7	1001	c.771G>A	c.(769-771)acG>acA	p.T257T	RBM34_ENST00000366606.3_Silent_p.T252T|RBM34_ENST00000495224.1_5'Flank			P42696	RBM34_HUMAN	RNA binding motif protein 34	257	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.					nucleolus (GO:0005730)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)	1	Ovarian(103;0.0398)	all_cancers(173;0.177)|Prostate(94;0.0166)	OV - Ovarian serous cystadenocarcinoma(106;5.43e-05)|Epithelial(3;0.000121)			TCAATGCTTGCGTGGCAGCAC	0.313																																						ENST00000408888.3																			0				central_nervous_system(1)	1						c.(769-771)acG>acA		RNA binding motif protein 34		C		0,3770		0,0,1885	108	104	105		771	-5.2	0	1		105	2,8224		0,2,4111	no	coding-synonymous	RBM34	NM_015014.2		0,2,5996	TT,TC,CC		0.0243,0.0,0.0167		257/431	235301420	2,11994	1885	4113	5998	SO:0001819	synonymous_variant	23029					nucleolus	nucleotide binding|RNA binding	g.chr1:235301420C>T		CCDS41477.1, CCDS41477.2	1q42.3	2013-02-12			ENSG00000188739	ENSG00000188739		"RNA binding motif (RRM) containing"	28965	protein-coding gene	gene with protein product						7788527, 15134903	Standard	NM_015014		Approved	KIAA0117	uc001hwn.3	P42696	OTTHUMG00000039620	ENST00000408888.3:c.771G>A	1.37:g.235301420C>T						RBM34_ENST00000366606.3_Silent_p.T252T	p.T257T			P42696	RBM34_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;5.43e-05)|Epithelial(3;0.000121)		7	1001	-	Ovarian(103;0.0398)	all_cancers(173;0.177)|Prostate(94;0.0166)	257			RRM 1.		A8K8J7|Q8N2Z8|Q9H5A1	Silent	SNP	ENST00000408888.3	37	c.771G>A	CCDS41477.2																																																																																				0.313	RBM34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000100146.1	NM_015014		14	21	0	0	0	1	0	14	21					T	235301420	C	T	235301420	2	4	435	1	0	0	0	0	0	0	0	1	13131	755	27	1		1	RBM34	1	235301420	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	739959	235301420	13949201	912	21837											
ARID4B	51742	broad.mit.edu	37	chr1	235345271	235345271	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tactatcgacattgactggaGgtggtttttctagttctaca	9	16	9	7	1	2	1	0	1	2	0	3	3	2	2	0	3	2	2	0	3	4	8			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:235345271G>T	ENST00000264183.3	-	20	3460	c.2963C>A	c.(2962-2964)cCt>cAt	p.P988H	ARID4B_ENST00000494543.1_5'Flank|ARID4B_ENST00000366603.2_Missense_Mutation_p.P988H|ARID4B_ENST00000349213.3_Missense_Mutation_p.P902H	NM_016374.5	NP_057458.4	Q4LE39	ARI4B_HUMAN	AT rich interactive domain 4B (RBP1-like)	988					histone H3-K9 trimethylation (GO:0036124)|histone H4-K20 trimethylation (GO:0034773)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|breast(2)|large_intestine(2)|lung(1)|ovary(2)	8	Ovarian(103;0.0473)|Breast(184;0.23)	all_cancers(173;0.000782)|Prostate(94;0.0132)|all_epithelial(177;0.0808)|Lung SC(1967;0.24)	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)			ATTGACTGGAGGTGGTTTTTC	0.473																																						ENST00000264183.3																			0				NS(1)|breast(2)|large_intestine(2)|lung(1)|ovary(2)	8						c.(2962-2964)cCt>cAt		AT rich interactive domain 4B (RBP1-like)							137	143	141					1																	235345271		2203	4300	6503	SO:0001583	missense	51742				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding	g.chr1:235345271G>T	AF214114	CCDS31060.1, CCDS31061.1	1q42.1-q43	2013-02-07	2006-11-08	2004-01-30	ENSG00000054267	ENSG00000054267		"-"	15550	protein-coding gene	gene with protein product		609696	"retinoblastoma binding protein 1-like 1", "AT rich interactive domain 4B (RBP1- like)"	RBP1L1		11481388	Standard	NM_016374		Approved	BCAA, BRCAA1, SAP180	uc001hwq.3	Q4LE39	OTTHUMG00000039621	ENST00000264183.3:c.2963C>A	1.37:g.235345271G>T	ENSP00000264183:p.Pro988His					ARID4B_ENST00000366603.2_Missense_Mutation_p.P988H|ARID4B_ENST00000349213.3_Missense_Mutation_p.P902H	p.P988H	NM_016374.5	NP_057458.4	Q4LE39	ARI4B_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)		20	3460	-	Ovarian(103;0.0473)|Breast(184;0.23)	all_cancers(173;0.000782)|Prostate(94;0.0132)|all_epithelial(177;0.0808)|Lung SC(1967;0.24)	988					A1L465|Q3MHV4|Q5HY99|Q5T2C2|Q5T2C3|Q5T2C4|Q5T2C5|Q5T2C6|Q6P600|Q86UX1|Q86WR4|Q9H915|Q9NYU3|Q9NZB6|Q9NZG4|Q9P2W4|Q9UF62|Q9Y6E1	Missense_Mutation	SNP	ENST00000264183.3	37	c.2963C>A	CCDS31061.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	0.574|0.574	-0.839899|-0.839899	0.02692|0.02692	.|.	.|.	ENSG00000054267|ENSG00000054267	ENST00000444620|ENST00000391856;ENST00000349213;ENST00000366603;ENST00000264183	.|T;T;T	.|0.23348	.|1.91;1.92;1.92	5.1|5.1	-5.77|-5.77	0.02369|0.02369	.|.	.|1.761130	.|0.02436	.|N	.|0.084033	T|T	0.17408|0.17408	0.0418|0.0418	N|N	0.08118|0.08118	0|0	0.09310|0.09310	N|N	1|1	.|P;P;B;B	.|0.42649	.|0.786;0.504;0.373;0.118	.|B;B;B;B	.|0.44044	.|0.439;0.224;0.224;0.066	T|T	0.29610|0.29610	-1.0006|-1.0006	5|10	.|0.46703	.|T	.|0.11	6.9131|6.9131	12.7272|12.7272	0.57176|0.57176	0.789:0.0:0.109:0.102|0.789:0.0:0.109:0.102	.|.	.|669;988;902;988	.|Q4LE39-4;Q4LE39-3;Q4LE39-2;Q4LE39	.|.;.;.;ARI4B_HUMAN	I|H	388|988;902;988;988	.|ENSP00000264184:P902H;ENSP00000355562:P988H;ENSP00000264183:P988H	.|ENSP00000264183:P988H	L|P	-|-	1|2	0|0	ARID4B|ARID4B	233411894|233411894	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.002000|0.002000	0.02628|0.02628	-0.084000|-0.084000	0.11268|0.11268	-1.076000|-1.076000	0.03125|0.03125	-0.237000|-0.237000	0.12165|0.12165	CTC|CCT		0.473	ARID4B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095566.3	NM_016374		19	122	1	0	3.62473e-10	1	3.8659e-10	19	122					T	235345271	G	T	235345271	3	4	435	1	0	0	0	0	1	0	0	0	920	1000	35	5	995	5	ARID4B	1	235345271	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	43851	235345271	13905350	913	21838											
ARID4B	51742	broad.mit.edu	37	chr1	235383805	235383805	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	aacaactttctctggcaatgCcatctgaaattcaatgttgg	12	13	7	9	0	3	1	1	1	2	0	4	1	3	1	1	2	3	2	1	2	5	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:235383805C>T	ENST00000264183.3	-	15	1716	c.1219G>A	c.(1219-1221)Gca>Aca	p.A407T	ARID4B_ENST00000366603.2_Missense_Mutation_p.A407T|ARID4B_ENST00000349213.3_Missense_Mutation_p.A407T	NM_016374.5	NP_057458.4	Q4LE39	ARI4B_HUMAN	AT rich interactive domain 4B (RBP1-like)	407	Glu-rich.				histone H3-K9 trimethylation (GO:0036124)|histone H4-K20 trimethylation (GO:0034773)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|breast(2)|large_intestine(2)|lung(1)|ovary(2)	8	Ovarian(103;0.0473)|Breast(184;0.23)	all_cancers(173;0.000782)|Prostate(94;0.0132)|all_epithelial(177;0.0808)|Lung SC(1967;0.24)	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)			TCTGGCAATGCCATCTGAAAT	0.313																																						ENST00000264183.3																			0				NS(1)|breast(2)|large_intestine(2)|lung(1)|ovary(2)	8						c.(1219-1221)Gca>Aca		AT rich interactive domain 4B (RBP1-like)							87	79	82					1																	235383805		2203	4298	6501	SO:0001583	missense	51742				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding	g.chr1:235383805C>T	AF214114	CCDS31060.1, CCDS31061.1	1q42.1-q43	2013-02-07	2006-11-08	2004-01-30	ENSG00000054267	ENSG00000054267		"-"	15550	protein-coding gene	gene with protein product		609696	"retinoblastoma binding protein 1-like 1", "AT rich interactive domain 4B (RBP1- like)"	RBP1L1		11481388	Standard	NM_016374		Approved	BCAA, BRCAA1, SAP180	uc001hwq.3	Q4LE39	OTTHUMG00000039621	ENST00000264183.3:c.1219G>A	1.37:g.235383805C>T	ENSP00000264183:p.Ala407Thr					ARID4B_ENST00000366603.2_Missense_Mutation_p.A407T|ARID4B_ENST00000349213.3_Missense_Mutation_p.A407T	p.A407T	NM_016374.5	NP_057458.4	Q4LE39	ARI4B_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)		15	1716	-	Ovarian(103;0.0473)|Breast(184;0.23)	all_cancers(173;0.000782)|Prostate(94;0.0132)|all_epithelial(177;0.0808)|Lung SC(1967;0.24)	407			Glu-rich.		A1L465|Q3MHV4|Q5HY99|Q5T2C2|Q5T2C3|Q5T2C4|Q5T2C5|Q5T2C6|Q6P600|Q86UX1|Q86WR4|Q9H915|Q9NYU3|Q9NZB6|Q9NZG4|Q9P2W4|Q9UF62|Q9Y6E1	Missense_Mutation	SNP	ENST00000264183.3	37	c.1219G>A	CCDS31061.1	.	.	.	.	.	.	.	.	.	.	C	28.2	4.898111	0.91962	.	.	ENSG00000054267	ENST00000391856;ENST00000349213;ENST00000366603;ENST00000264183;ENST00000439834;ENST00000418304	T;T;T;T	0.23552	1.9;1.91;1.91;1.91	5.51	5.51	0.81932	ARID/BRIGHT DNA-binding domain (2);	0.199078	0.44902	D	0.000417	T	0.25344	0.0616	N	0.24115	0.695	0.51233	D	0.999918	P;P;P;P	0.51791	0.948;0.763;0.763;0.651	P;B;B;B	0.48227	0.571;0.288;0.382;0.15	T	0.01566	-1.1323	10	0.14656	T	0.56	-16.6688	19.7818	0.96418	0.0:1.0:0.0:0.0	.	88;407;407;407	Q4LE39-4;Q4LE39-3;Q4LE39-2;Q4LE39	.;.;.;ARI4B_HUMAN	T	407	ENSP00000264184:A407T;ENSP00000355562:A407T;ENSP00000264183:A407T;ENSP00000391497:A407T	ENSP00000264183:A407T	A	-	1	0	ARID4B	233450428	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.407000	0.66363	2.736000	0.93811	0.655000	0.94253	GCA		0.313	ARID4B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095566.3	NM_016374		3	27	0	0	0	1	0	3	27					T	235383805	C	T	235383805	3	4	435	1	0	0	0	0	1	0	0	0	920	739	26	3	2759	3	ARID4B	1	235383805	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	38534	235383805	13866816	914	21839											
B3GALNT2	148789	broad.mit.edu	37	chr1	235622019	235622019	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctccttcagtaaggcatctTcctcatggagattccttata	9	14	6	12	0	3	1	2	0	1	1	6	2	6	1	4	2	0	2	4	2	3	6			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:235622019T>C	ENST00000366600.3	-	8	1145	c.917A>G	c.(916-918)gAa>gGa	p.E306G		NM_152490.2	NP_689703.1	Q8NCR0	B3GL2_HUMAN	beta-1,3-N-acetylgalactosaminyltransferase 2	306					protein glycosylation (GO:0006486)|protein O-linked glycosylation (GO:0006493)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	acetylgalactosaminyltransferase activity (GO:0008376)|acetylglucosaminyltransferase activity (GO:0008375)|galactosyltransferase activity (GO:0008378)			NS(1)|breast(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	18	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.0539)|Prostate(94;0.0353)	OV - Ovarian serous cystadenocarcinoma(106;0.000117)			TAAGGCATCTTCCTCATGGAG	0.383																																						ENST00000366600.3																			0				NS(1)|breast(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	18						c.(916-918)gAa>gGa		beta-1,3-N-acetylgalactosaminyltransferase 2							107	95	99					1																	235622019		2203	4300	6503	SO:0001583	missense	148789				protein glycosylation	Golgi membrane|integral to membrane	galactosyltransferase activity	g.chr1:235622019T>C	BC029564	CCDS1606.1, CCDS60453.1	1q42.3	2013-02-19	2006-06-14		ENSG00000162885	ENSG00000162885		"Beta 3-glycosyltransferases"	28596	protein-coding gene	gene with protein product		610194	"UDP-GalNAc:betaGlcNAc beta-1,3-galactosaminyltransferase, polypeptide 2"			14724282	Standard	NM_001277155		Approved	MGC39558	uc001hxc.3	Q8NCR0	OTTHUMG00000040468	ENST00000366600.3:c.917A>G	1.37:g.235622019T>C	ENSP00000355559:p.Glu306Gly						p.E306G	NM_152490.2	NP_689703.1	Q8NCR0	B3GL2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.000117)		8	1145	-	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.0539)|Prostate(94;0.0353)	306					Q59GR3|Q5TCI3|Q96AL7	Missense_Mutation	SNP	ENST00000366600.3	37	c.917A>G	CCDS1606.1	.	.	.	.	.	.	.	.	.	.	T	17.09	3.301081	0.60195	.	.	ENSG00000162885	ENST00000366600	T	0.61742	0.08	5.39	5.39	0.77823	.	0.099151	0.64402	D	0.000002	T	0.71108	0.3301	M	0.79258	2.445	0.80722	D	1	P	0.48294	0.908	P	0.54706	0.759	T	0.72354	-0.4319	10	0.39692	T	0.17	-22.683	15.4109	0.74917	0.0:0.0:0.0:1.0	.	306	Q8NCR0	B3GL2_HUMAN	G	306	ENSP00000355559:E306G	ENSP00000355559:E306G	E	-	2	0	B3GALNT2	233688642	1.000000	0.71417	0.972000	0.41901	0.014000	0.08584	6.851000	0.75425	2.048000	0.60808	0.533000	0.62120	GAA		0.383	B3GALNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097376.1	NM_152490		8	58	0	0	0	1	0	8	58					C	235622019	T	C	235622019	3	2	435	1	0	0	0	0	1	0	0	0	1246	1783	62	4	605	4	B3GALNT2	1	235622019	Missense_Mutation	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	238214	235622019	13628602	915	21840											
LYST	1130	broad.mit.edu	37	chr1	235944227	235944227	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttctctgatttgttcacatcGcaaaatttctttattaatat	11	20	3	7	1	3	1	1	1	2	0	5	1	3	1	0	0	0	2	0	0	5	8			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:235944227G>A	ENST00000389794.3	-	16	5326	c.5152C>T	c.(5152-5154)Cga>Tga	p.R1718*	LYST_ENST00000389793.2_Nonsense_Mutation_p.R1718*|LYST_ENST00000536965.1_3'UTR			Q99698	LYST_HUMAN	lysosomal trafficking regulator	1718					blood coagulation (GO:0007596)|defense response to bacterium (GO:0042742)|defense response to protozoan (GO:0042832)|defense response to virus (GO:0051607)|endosome to lysosome transport via multivesicular body sorting pathway (GO:0032510)|leukocyte chemotaxis (GO:0030595)|lysosome organization (GO:0007040)|mast cell secretory granule organization (GO:0033364)|melanosome organization (GO:0032438)|microtubule-based process (GO:0007017)|natural killer cell mediated cytotoxicity (GO:0042267)|neutrophil mediated immunity (GO:0002446)|phospholipid homeostasis (GO:0055091)|phospholipid metabolic process (GO:0006644)|pigmentation (GO:0043473)|positive regulation of natural killer cell activation (GO:0032816)|response to drug (GO:0042493)|secretion of lysosomal enzymes (GO:0033299)|T cell mediated immunity (GO:0002456)	cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)				NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			TGTTCACATCGCAAAATTTCT	0.294																																						ENST00000389794.3																			0				NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162						c.(5152-5154)Cga>Tga		lysosomal trafficking regulator							35	38	37					1																	235944227		2202	4300	6502	SO:0001587	stop_gained	1130				defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding	g.chr1:235944227G>A	U70064	CCDS31062.1	1q42.1-q42.2	2014-09-17	2004-12-09	2004-12-10	ENSG00000143669	ENSG00000143669		"WD repeat domain containing"	1968	protein-coding gene	gene with protein product		606897	"Chediak-Higashi syndrome 1"	CHS1		8717042, 8896560	Standard	NM_000081		Approved	CHS	uc001hxj.3	Q99698	OTTHUMG00000040527	ENST00000389794.3:c.5152C>T	1.37:g.235944227G>A	ENSP00000374444:p.Arg1718*					LYST_ENST00000389793.2_Nonsense_Mutation_p.R1718*|LYST_ENST00000536965.1_3'UTR	p.R1718*			Q99698	LYST_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.000674)		16	5326	-	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	1718					O43274|Q5T2U9|Q96TD7|Q96TD8|Q99709|Q9H133	Nonsense_Mutation	SNP	ENST00000389794.3	37	c.5152C>T	CCDS31062.1	.	.	.	.	.	.	.	.	.	.	G	45	12.019982	0.99627	.	.	ENSG00000143669	ENST00000389794;ENST00000389793	.	.	.	5.05	4.11	0.48088	.	0.354342	0.31872	N	0.006937	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.6163	0.56578	0.0:0.0:0.6889:0.3111	.	.	.	.	X	1718	.	ENSP00000374443:R1718X	R	-	1	2	LYST	234010850	0.998000	0.40836	0.850000	0.33497	0.976000	0.68499	2.716000	0.47219	1.193000	0.43086	0.467000	0.42956	CGA		0.294	LYST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097533.5			5	49	0	0	0	1	0	5	49					A	235944227	G	A	235944227	4	1	435	1	0	0	0	0	0	1	0	0	9128	1095	38	1	6405	1	LYST	1	235944227	Nonsense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	322208	235944227	13306394	916	21841											
LYST	1130	broad.mit.edu	37	chr1	235964219	235964220	+	Frame_Shift_Ins	INS	-	-	A																															ctttctgcctaataattttcINSaaaaaactctcaaatacatg																										TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:235964219_235964220insA	ENST00000389794.3	-	9	4064_4065	c.3890_3891insT	c.(3889-3891)ttgfs	p.L1297fs	LYST_ENST00000389793.2_Frame_Shift_Ins_p.L1297fs|LYST_ENST00000536965.1_Frame_Shift_Ins_p.L1297fs			Q99698	LYST_HUMAN	lysosomal trafficking regulator	1297					blood coagulation (GO:0007596)|defense response to bacterium (GO:0042742)|defense response to protozoan (GO:0042832)|defense response to virus (GO:0051607)|endosome to lysosome transport via multivesicular body sorting pathway (GO:0032510)|leukocyte chemotaxis (GO:0030595)|lysosome organization (GO:0007040)|mast cell secretory granule organization (GO:0033364)|melanosome organization (GO:0032438)|microtubule-based process (GO:0007017)|natural killer cell mediated cytotoxicity (GO:0042267)|neutrophil mediated immunity (GO:0002446)|phospholipid homeostasis (GO:0055091)|phospholipid metabolic process (GO:0006644)|pigmentation (GO:0043473)|positive regulation of natural killer cell activation (GO:0032816)|response to drug (GO:0042493)|secretion of lysosomal enzymes (GO:0033299)|T cell mediated immunity (GO:0002456)	cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)				NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			TAATAATTTTCAAAAAACTCTC	0.322																																						ENST00000389794.3																			0				NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162						c.(3889-3891)taafs		lysosomal trafficking regulator																																				SO:0001589	frameshift_variant	1130				defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding	g.chr1:235964219_235964220insA	U70064	CCDS31062.1	1q42.1-q42.2	2014-09-17	2004-12-09	2004-12-10	ENSG00000143669	ENSG00000143669		"WD repeat domain containing"	1968	protein-coding gene	gene with protein product		606897	"Chediak-Higashi syndrome 1"	CHS1		8717042, 8896560	Standard	NM_000081		Approved	CHS	uc001hxj.3	Q99698	OTTHUMG00000040527	ENST00000389794.3:c.3891dupT	1.37:g.235964225_235964225dupA	ENSP00000374444:p.Leu1297fs					LYST_ENST00000389793.2_Frame_Shift_Ins_p.*1297fs|LYST_ENST00000536965.1_Frame_Shift_Ins_p.*1297fs	p.*1297fs			Q99698	LYST_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.000674)		9	4064_4065	-	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	1297					O43274|Q5T2U9|Q96TD7|Q96TD8|Q99709|Q9H133	Frame_Shift_Ins	INS	ENST00000389794.3	37	c.3890_3891insT	CCDS31062.1																																																																																				0.322	LYST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097533.5			28	37						28	37	---	---	---	---	A	235964220	-	A	235964219	7	5	435	1	0	1	1	0	0	0	0	0	9128	825	29	0	7694	0	LYST	1	235964219	Frame_Shift_Ins	INS	-	TCGA-XK-AAIW-01A-11D-A41K-08	19992	235964219	13286402	917	21842											
NID1	4811	broad.mit.edu	37	chr1	236195715	236195715	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	aattaccggtgatgctgaacCcattcttgaatccgtcctgc	9	12	8	12	2	1	3	0	3	1	0	3	3	3	3	4	1	4	1	4	1	4	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:236195715C>A	ENST00000264187.6	-	6	1605	c.1523G>T	c.(1522-1524)gGg>gTg	p.G508V	NID1_ENST00000366595.3_Missense_Mutation_p.G508V	NM_002508.2	NP_002499.2	P14543	NID1_HUMAN	nidogen 1	508	Nidogen G2 beta-barrel. {ECO:0000255|PROSITE-ProRule:PRU00348}.				basement membrane organization (GO:0071711)|cell-matrix adhesion (GO:0007160)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glomerular basement membrane development (GO:0032836)|positive regulation of cell-substrate adhesion (GO:0010811)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|cell periphery (GO:0071944)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|laminin binding (GO:0043236)|proteoglycan binding (GO:0043394)			breast(4)|endometrium(9)|kidney(1)|large_intestine(23)|lung(20)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(1)	66	Ovarian(103;0.0544)|Breast(184;0.23)	all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		Urokinase(DB00013)	GATGCTGAACCCATTCTTGAA	0.507																																						ENST00000264187.6																			0				breast(4)|endometrium(9)|kidney(1)|large_intestine(23)|lung(20)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(1)	66						c.(1522-1524)gGg>gTg		nidogen 1	Becaplermin(DB00102)|Urokinase(DB00013)						93	95	95					1																	236195715		2203	4300	6503	SO:0001583	missense	4811				cell-matrix adhesion	basement membrane	calcium ion binding	g.chr1:236195715C>A	BC045606	CCDS1608.1	1q43	2011-05-08	2005-06-02	2005-06-02	ENSG00000116962	ENSG00000116962			7821	protein-coding gene	gene with protein product		131390	"nidogen (enactin)"	NID		2471408, 7557988	Standard	NM_002508		Approved	entactin	uc001hxo.3	P14543	OTTHUMG00000040071	ENST00000264187.6:c.1523G>T	1.37:g.236195715C>A	ENSP00000264187:p.Gly508Val					NID1_ENST00000366595.3_Missense_Mutation_p.G508V	p.G508V	NM_002508.2	NP_002499.2	P14543	NID1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		6	1605	-	Ovarian(103;0.0544)|Breast(184;0.23)	all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229)	508			Nidogen G2 beta-barrel.		Q14942|Q59FL2|Q5TAF2|Q5TAF3|Q86XD7	Missense_Mutation	SNP	ENST00000264187.6	37	c.1523G>T	CCDS1608.1	.	.	.	.	.	.	.	.	.	.	C	25.8	4.677795	0.88445	.	.	ENSG00000116962	ENST00000264187;ENST00000366595	T;T	0.71698	-0.59;-0.59	5.73	5.73	0.89815	G2 nidogen/fibulin G2F (3);Green fluorescent protein-like (1);	0.046338	0.85682	D	0.000000	D	0.87553	0.6206	M	0.88979	2.995	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.997;1.0	D	0.89066	0.3466	10	0.87932	D	0	.	19.8966	0.96963	0.0:1.0:0.0:0.0	.	508;508	P14543-2;P14543	.;NID1_HUMAN	V	508	ENSP00000264187:G508V;ENSP00000355554:G508V	ENSP00000264187:G508V	G	-	2	0	NID1	234262338	1.000000	0.71417	0.991000	0.47740	0.926000	0.56050	7.487000	0.81328	2.700000	0.92200	0.655000	0.94253	GGG		0.507	NID1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096647.2	NM_002508		27	33	1	0	1.16021e-09	1	1.23406e-09	27	33					A	236195715	C	A	236195715	3	1	435	1	0	0	0	0	1	0	0	0	10414	623	22	5	2280	5	NID1	1	236195715	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	231496	236195715	13054906	918	21843											
HEATR1	55127	broad.mit.edu	37	chr1	236746392	236746392	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agaaaaaccgagtcctccacGgccaccctctgagtgctgtt	10	8	9	14	2	1	2	0	1	1	1	3	3	3	2	5	1	2	2	5	1	2	1	rs371355576		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:236746392G>A	ENST00000366582.3	-	18	2460	c.2346C>T	c.(2344-2346)gcC>gcT	p.A782A	HEATR1_ENST00000366581.2_Silent_p.A782A	NM_018072.5	NP_060542.4	Q9H583	HEAT1_HUMAN	HEAT repeat containing 1	782					rRNA processing (GO:0006364)	membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	87	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			AGTCCTCCACGGCCACCCTCT	0.433																																						ENST00000366582.3																			0				NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	87						c.(2344-2346)gcC>gcT		HEAT repeat containing 1		G		1,4405	2.1+/-5.4	0,1,2202	148	144	145		2346	-8.7	0	1		145	0,8600		0,0,4300	no	coding-synonymous	HEATR1	NM_018072.5		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		782/2145	236746392	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	55127				rRNA processing	nucleolus|ribonucleoprotein complex	protein binding	g.chr1:236746392G>A	BC065205	CCDS31066.1	1q43	2011-08-12			ENSG00000119285	ENSG00000119285			25517	protein-coding gene	gene with protein product	"UTP10, small subunit (SSU) processome component, homolog (yeast)"					17699751	Standard	NM_018072		Approved	FLJ10359, BAP28, UTP10	uc001hyd.2	Q9H583	OTTHUMG00000040061	ENST00000366582.3:c.2346C>T	1.37:g.236746392G>A						HEATR1_ENST00000366581.2_Silent_p.A782A	p.A782A	NM_018072.5	NP_060542.4	Q9H583	HEAT1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00117)		18	2460	-	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	782					Q5T3Q8|Q6P197|Q9NW23	Silent	SNP	ENST00000366582.3	37	c.2346C>T	CCDS31066.1																																																																																				0.433	HEATR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096635.1	XM_375853		56	87	0	0	0	1	0	56	87					A	236746392	G	A	236746392	2	1	435	1	0	0	0	0	0	0	0	1	7027	1103	39	2		2	HEATR1	1	236746392	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	550677	236746392	12504229	919	21844											
ACTN2	88	broad.mit.edu	37	chr1	236900481	236900481	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gtgaatcaagagaatgagagGctgatggaagaatatgagag	17	7	15	2	0	1	6	1	4	0	4	1	10	1	7	0	2	0	1	0	2	6	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:236900481G>A	ENST00000366578.4	+	9	1009	c.843G>A	c.(841-843)agG>agA	p.R281R	ACTN2_ENST00000492634.1_3'UTR|ACTN2_ENST00000542672.1_Silent_p.R281R|ACTN2_ENST00000546208.1_Splice_Site	NM_001103.2|NM_001278343.1	NP_001094.1|NP_001265272.1	P35609	ACTN2_HUMAN	actinin, alpha 2	281					blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|focal adhesion assembly (GO:0048041)|microspike assembly (GO:0030035)|muscle filament sliding (GO:0030049)|negative regulation of potassium ion transmembrane transporter activity (GO:1901017)|negative regulation of potassium ion transport (GO:0043267)|negative regulation of protein localization to cell surface (GO:2000009)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein homotetramerization (GO:0051289)|regulation of apoptotic process (GO:0042981)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	actin filament (GO:0005884)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|platelet alpha granule lumen (GO:0031093)|pseudopodium (GO:0031143)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|cytoskeletal protein binding (GO:0008092)|FATZ binding (GO:0051373)|identical protein binding (GO:0042802)|integrin binding (GO:0005178)|ion channel binding (GO:0044325)|protein dimerization activity (GO:0046983)|structural constituent of muscle (GO:0008307)|thyroid hormone receptor coactivator activity (GO:0030375)|titin binding (GO:0031432)|titin Z domain binding (GO:0070080)			endometrium(4)|kidney(2)|large_intestine(15)|lung(55)|ovary(4)|prostate(3)|skin(3)	86	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00168)			AGAATGAGAGGCTGATGGAAG	0.507																																						ENST00000546208.1																			0				endometrium(4)|kidney(2)|large_intestine(15)|lung(55)|ovary(4)|prostate(3)|skin(3)	86						c.e3+1		actinin, alpha 2							118	107	110					1																	236900481		2203	4300	6503	SO:0001819	synonymous_variant	88				focal adhesion assembly|microspike assembly|muscle filament sliding|platelet activation|platelet degranulation|protein homotetramerization|regulation of apoptosis|synaptic transmission	actin filament|cytosol|dendritic spine|extracellular region|filopodium|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|Z disc	actin binding|calcium ion binding|FATZ 1 binding|identical protein binding|integrin binding|protein dimerization activity|structural constituent of muscle|titin binding|titin Z domain binding|ZASP binding	g.chr1:236900481G>A	BC047901	CCDS1613.1, CCDS60455.1, CCDS73053.1	1q42-q43	2014-09-17			ENSG00000077522	ENSG00000077522		"EF-hand domain containing"	164	protein-coding gene	gene with protein product		102573				1339456	Standard	NM_001103		Approved		uc001hyf.2	P35609	OTTHUMG00000040059	ENST00000366578.4:c.843G>A	1.37:g.236900481G>A						ACTN2_ENST00000492634.1_3'UTR|ACTN2_ENST00000366578.4_Silent_p.R281R|ACTN2_ENST00000542672.1_Silent_p.R281R				P35609	ACTN2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00168)		3	210	+	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)						B1ANE4|B2RCS5|Q86TF4|Q86TI8	Splice_Site	SNP	ENST00000366578.4	37		CCDS1613.1																																																																																				0.507	ACTN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000096628.1	NM_001103		13	22	0	0	0	1	0	13	22					A	236900481	G	A	236900481	2	1	435	1	0	0	0	0	0	0	0	1	205	1194	42	3		3	ACTN2	1	236900481	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	154089	236900481	12350140	920	21845											
ACTN2	88	broad.mit.edu	37	chr1	236902770	236902770	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agatcaacttcaacacgctgCagaccaagctgcggatcagc	13	6	9	13	2	3	2	3	0	0	2	3	3	3	3	1	1	6	3	1	1	3	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:236902770C>T	ENST00000366578.4	+	10	1211	c.1045C>T	c.(1045-1047)Cag>Tag	p.Q349*	ACTN2_ENST00000492634.1_3'UTR|ACTN2_ENST00000542672.1_Nonsense_Mutation_p.Q349*|ACTN2_ENST00000546208.1_Intron	NM_001103.2|NM_001278343.1	NP_001094.1|NP_001265272.1	P35609	ACTN2_HUMAN	actinin, alpha 2	349					blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|focal adhesion assembly (GO:0048041)|microspike assembly (GO:0030035)|muscle filament sliding (GO:0030049)|negative regulation of potassium ion transmembrane transporter activity (GO:1901017)|negative regulation of potassium ion transport (GO:0043267)|negative regulation of protein localization to cell surface (GO:2000009)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein homotetramerization (GO:0051289)|regulation of apoptotic process (GO:0042981)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	actin filament (GO:0005884)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|platelet alpha granule lumen (GO:0031093)|pseudopodium (GO:0031143)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|cytoskeletal protein binding (GO:0008092)|FATZ binding (GO:0051373)|identical protein binding (GO:0042802)|integrin binding (GO:0005178)|ion channel binding (GO:0044325)|protein dimerization activity (GO:0046983)|structural constituent of muscle (GO:0008307)|thyroid hormone receptor coactivator activity (GO:0030375)|titin binding (GO:0031432)|titin Z domain binding (GO:0070080)			endometrium(4)|kidney(2)|large_intestine(15)|lung(55)|ovary(4)|prostate(3)|skin(3)	86	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00168)			CAACACGCTGCAGACCAAGCT	0.602																																						ENST00000366578.4																			0				endometrium(4)|kidney(2)|large_intestine(15)|lung(55)|ovary(4)|prostate(3)|skin(3)	86						c.(1045-1047)Cag>Tag		actinin, alpha 2							137	108	118					1																	236902770		2203	4300	6503	SO:0001587	stop_gained	88				focal adhesion assembly|microspike assembly|muscle filament sliding|platelet activation|platelet degranulation|protein homotetramerization|regulation of apoptosis|synaptic transmission	actin filament|cytosol|dendritic spine|extracellular region|filopodium|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|Z disc	actin binding|calcium ion binding|FATZ 1 binding|identical protein binding|integrin binding|protein dimerization activity|structural constituent of muscle|titin binding|titin Z domain binding|ZASP binding	g.chr1:236902770C>T	BC047901	CCDS1613.1, CCDS60455.1, CCDS73053.1	1q42-q43	2014-09-17			ENSG00000077522	ENSG00000077522		"EF-hand domain containing"	164	protein-coding gene	gene with protein product		102573				1339456	Standard	NM_001103		Approved		uc001hyf.2	P35609	OTTHUMG00000040059	ENST00000366578.4:c.1045C>T	1.37:g.236902770C>T	ENSP00000355537:p.Gln349*					ACTN2_ENST00000492634.1_3'UTR|ACTN2_ENST00000546208.1_Intron|ACTN2_ENST00000542672.1_Nonsense_Mutation_p.Q349*	p.Q349*	NM_001103.2|NM_001278343.1	NP_001094.1|NP_001265272.1	P35609	ACTN2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00168)		10	1211	+	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	349					B1ANE4|B2RCS5|Q86TF4|Q86TI8	Nonsense_Mutation	SNP	ENST00000366578.4	37	c.1045C>T	CCDS1613.1	.	.	.	.	.	.	.	.	.	.	C	40	8.368927	0.98781	.	.	ENSG00000077522	ENST00000542672;ENST00000366578;ENST00000545611	.	.	.	5.51	5.51	0.81932	.	0.105350	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	19.4071	0.94651	0.0:1.0:0.0:0.0	.	.	.	.	X	349;349;118	.	ENSP00000355537:Q349X	Q	+	1	0	ACTN2	234969393	1.000000	0.71417	1.000000	0.80357	0.913000	0.54294	7.780000	0.85658	2.585000	0.87301	0.555000	0.69702	CAG		0.602	ACTN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000096628.1	NM_001103		20	21	0	0	0	1	0	20	21					T	236902770	C	T	236902770	4	4	435	1	0	0	0	0	0	1	0	0	205	711	25	3	1083	3	ACTN2	1	236902770	Nonsense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	2289	236902770	12347851	921	21846											
ZP4	57829	broad.mit.edu	37	chr1	238048881	238048881	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtaagagccatagtttttatCtgcaagaggcagaaataagg	15	10	11	5	0	1	3	0	0	1	3	1	3	1	3	1	2	2	4	1	2	6	6			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:238048881C>T	ENST00000366570.4	-	8	1129		c.e8-1		RP11-193H5.1_ENST00000450451.1_RNA	NM_021186.3	NP_067009.1	Q12836	ZP4_HUMAN	zona pellucida glycoprotein 4						acrosomal vesicle exocytosis (GO:0060478)|binding of sperm to zona pellucida (GO:0007339)|intracellular signal transduction (GO:0035556)|multicellular organism reproduction (GO:0032504)|negative regulation of binding of sperm to zona pellucida (GO:2000360)|positive regulation of acrosome reaction (GO:2000344)|positive regulation of humoral immune response (GO:0002922)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of T cell proliferation (GO:0042102)|protein kinase A signaling (GO:0010737)|protein kinase C signaling (GO:0070528)|single fertilization (GO:0007338)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	acrosin binding (GO:0032190)|signal transducer activity (GO:0004871)			breast(6)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(42)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	73	Ovarian(103;0.103)	all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			TAGTTTTTATCTGCAAGAGGC	0.458																																					NSCLC(166;160 2029 11600 18754 19936)	ENST00000366570.4																			0				breast(6)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(42)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						c.e8-1		zona pellucida glycoprotein 4							50	49	49					1																	238048881		2203	4300	6503	SO:0001630	splice_region_variant	57829				acrosomal vesicle exocytosis|negative regulation of binding of sperm to zona pellucida|positive regulation of acrosome reaction|positive regulation of humoral immune response|positive regulation of protein kinase activity|positive regulation of T cell proliferation|protein kinase A signaling cascade|protein kinase C signaling cascade	integral to membrane|intracellular|plasma membrane|proteinaceous extracellular matrix	acrosin binding|receptor activity	g.chr1:238048881C>T	U05781	CCDS1615.1	1q43	2013-01-17			ENSG00000116996	ENSG00000116996		"Zona pellucida glycoproteins"	15770	protein-coding gene	gene with protein product		613514				7841460	Standard	NM_021186		Approved	ZPB	uc001hym.3	Q12836	OTTHUMG00000039586	ENST00000366570.4:c.971-1G>A	1.37:g.238048881C>T						RP11-193H5.1_ENST00000450451.1_RNA		NM_021186.3	NP_067009.1	Q12836	ZP4_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		8	1129	-	Ovarian(103;0.103)	all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214)						B2RAE1	Splice_Site	SNP	ENST00000366570.4	37		CCDS1615.1	.	.	.	.	.	.	.	.	.	.	C	14.24	2.476194	0.44044	.	.	ENSG00000116996	ENST00000366570	.	.	.	4.86	3.93	0.45458	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.2629	0.49093	0.0:0.9079:0.0:0.0921	.	.	.	.	.	-1	.	.	.	-	.	.	ZP4	236115504	1.000000	0.71417	0.386000	0.26170	0.161000	0.22273	4.411000	0.59781	2.247000	0.74100	0.655000	0.94253	.		0.458	ZP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095476.1		Intron	15	18	0	0	0	1	0	15	18					T	238048881	C	T	238048881	5	4	435	1	0	0	0	0	0	0	1	0	18215	927	32	3	672	3	ZP4	1	238048881	Splice_Site	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	1146111	238048881	11201740	922	21847											
ZP4	57829	broad.mit.edu	37	chr1	238053225	238053225	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtaaccaccttgtgttcagcCgcgcctgctccttcaactcc	6	11	7	17	2	2	0	2	0	0	0	4	0	4	0	6	0	4	3	6	0	2	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:238053225C>T	ENST00000366570.4	-	3	500	c.342G>A	c.(340-342)gcG>gcA	p.A114A	RP11-193H5.1_ENST00000450451.1_RNA	NM_021186.3	NP_067009.1	Q12836	ZP4_HUMAN	zona pellucida glycoprotein 4	114			A -> V (in dbSNP:rs34370253).		acrosomal vesicle exocytosis (GO:0060478)|binding of sperm to zona pellucida (GO:0007339)|intracellular signal transduction (GO:0035556)|multicellular organism reproduction (GO:0032504)|negative regulation of binding of sperm to zona pellucida (GO:2000360)|positive regulation of acrosome reaction (GO:2000344)|positive regulation of humoral immune response (GO:0002922)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of T cell proliferation (GO:0042102)|protein kinase A signaling (GO:0010737)|protein kinase C signaling (GO:0070528)|single fertilization (GO:0007338)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	acrosin binding (GO:0032190)|signal transducer activity (GO:0004871)			breast(6)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(42)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	73	Ovarian(103;0.103)	all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			TGTGTTCAGCCGCGCCTGCTC	0.572																																					NSCLC(166;160 2029 11600 18754 19936)	ENST00000366570.4																			0				breast(6)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(42)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						c.(340-342)gcG>gcA		zona pellucida glycoprotein 4							202	209	206					1																	238053225		2203	4300	6503	SO:0001819	synonymous_variant	57829				acrosomal vesicle exocytosis|negative regulation of binding of sperm to zona pellucida|positive regulation of acrosome reaction|positive regulation of humoral immune response|positive regulation of protein kinase activity|positive regulation of T cell proliferation|protein kinase A signaling cascade|protein kinase C signaling cascade	integral to membrane|intracellular|plasma membrane|proteinaceous extracellular matrix	acrosin binding|receptor activity	g.chr1:238053225C>T	U05781	CCDS1615.1	1q43	2013-01-17			ENSG00000116996	ENSG00000116996		"Zona pellucida glycoproteins"	15770	protein-coding gene	gene with protein product		613514				7841460	Standard	NM_021186		Approved	ZPB	uc001hym.3	Q12836	OTTHUMG00000039586	ENST00000366570.4:c.342G>A	1.37:g.238053225C>T						RP11-193H5.1_ENST00000450451.1_RNA	p.A114A	NM_021186.3	NP_067009.1	Q12836	ZP4_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		3	500	-	Ovarian(103;0.103)	all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214)	114		A -> V (in dbSNP:rs34370253).			B2RAE1	Silent	SNP	ENST00000366570.4	37	c.342G>A	CCDS1615.1																																																																																				0.572	ZP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095476.1			57	99	0	0	0	1	0	57	99					T	238053225	C	T	238053225	2	4	435	1	0	0	0	0	0	0	0	1	18215	639	23	2		2	ZP4	1	238053225	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	4344	238053225	11197396	923	21848											
CHRM3	1131	broad.mit.edu	37	chr1	240070781	240070781	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacaataacagtacaacctcGcctttgtttccaaacatcag	14	10	4	13	1	1	0	1	0	0	0	3	0	2	0	3	0	4	2	3	0	5	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:240070781G>A	ENST00000255380.4	+	5	809	c.30G>A	c.(28-30)tcG>tcA	p.S10S		NM_000740.2	NP_000731.1	P20309	ACM3_HUMAN	cholinergic receptor, muscarinic 3	10					cell proliferation (GO:0008283)|cellular protein modification process (GO:0006464)|energy reserve metabolic process (GO:0006112)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|G-protein coupled receptor signaling pathway (GO:0007186)|nervous system development (GO:0007399)|positive regulation of smooth muscle contraction (GO:0045987)|regulation of insulin secretion (GO:0050796)|regulation of vascular smooth muscle contraction (GO:0003056)|saliva secretion (GO:0046541)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|smooth muscle contraction (GO:0006939)	asymmetric synapse (GO:0032279)|axon terminus (GO:0043679)|cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|drug binding (GO:0008144)|G-protein coupled acetylcholine receptor activity (GO:0016907)|phosphatidylinositol phospholipase C activity (GO:0004435)|receptor activity (GO:0004872)			breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(19)|ovary(4)|prostate(1)|skin(12)|upper_aerodigestive_tract(1)	51	Ovarian(103;0.127)	all_cancers(173;0.00567)|all_neural(198;0.203)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		Aclidinium(DB08897)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Anisotropine Methylbromide(DB00517)|Aripiprazole(DB01238)|Atropine(DB00572)|Brompheniramine(DB00835)|Cevimeline(DB00185)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Cryptenamine(DB00785)|Cyproheptadine(DB00434)|Darifenacin(DB00496)|Desipramine(DB01151)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Disopyramide(DB00280)|Doxepin(DB01142)|Fesoterodine(DB06702)|Glycopyrrolate(DB00986)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Imipramine(DB00458)|Ipratropium bromide(DB00332)|Isopropamide(DB01625)|Ketamine(DB01221)|Loxapine(DB00408)|Maprotiline(DB00934)|Mepenzolate(DB04843)|Methacholine(DB06709)|Methotrimeprazine(DB01403)|Methylscopolamine bromide(DB00462)|Metixene(DB00340)|Mivacurium(DB01226)|Nicardipine(DB00622)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pancuronium(DB01337)|Paroxetine(DB00715)|Pethidine(DB00454)|Pilocarpine(DB01085)|Pipecuronium(DB01338)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Scopolamine(DB00747)|Solifenacin(DB01591)|Succinylcholine(DB00202)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tramadol(DB00193)|Trihexyphenidyl(DB00376)|Trimipramine(DB00726)|Tropicamide(DB00809)|Ziprasidone(DB00246)	GTACAACCTCGCCTTTGTTTC	0.483																																						ENST00000255380.4																			0				breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(19)|ovary(4)|prostate(1)|skin(12)|upper_aerodigestive_tract(1)	51						c.(28-30)tcG>tcA		cholinergic receptor, muscarinic 3	Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Cevimeline(DB00185)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Darifenacin(DB00496)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Solifenacin(DB01591)|Thiethylperazine(DB00372)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tridihexethyl(DB00505)						75	69	71					1																	240070781		2203	4300	6503	SO:0001819	synonymous_variant	1131				cell proliferation|energy reserve metabolic process|nervous system development|protein modification process|regulation of insulin secretion	basolateral plasma membrane|cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity	g.chr1:240070781G>A	U29589	CCDS1616.1	1q43	2012-09-20			ENSG00000133019	ENSG00000133019		"Cholinergic receptors", "GPCR / Class A : Cholinergic receptors, muscarinic"	1952	protein-coding gene	gene with protein product	"acetylcholine receptor, muscarinic 3"	118494					Standard	XM_005273032		Approved		uc001hyp.3	P20309	OTTHUMG00000039649	ENST00000255380.4:c.30G>A	1.37:g.240070781G>A							p.S10S	NM_000740.2	NP_000731.1	P20309	ACM3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		5	809	+	Ovarian(103;0.127)	all_cancers(173;0.00567)|all_neural(198;0.203)	10					Q0VAJ8|Q4QRI3|Q5VXY2|Q9HB60	Silent	SNP	ENST00000255380.4	37	c.30G>A	CCDS1616.1																																																																																				0.483	CHRM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095644.2	NM_000740		16	36	0	0	0	1	0	16	36					A	240070781	G	A	240070781	2	1	435	1	0	0	0	0	0	0	0	1	3378	1074	38	1		1	CHRM3	1	240070781	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	2017556	240070781	9179840	924	21849											
CHRM3	1131	broad.mit.edu	37	chr1	240072217	240072217	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cctggtcaaggagaagaaagCggcccagaccctcagtgcga	12	4	13	12	2	2	3	2	0	0	3	2	5	2	3	3	3	2	0	3	3	3	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:240072217C>T	ENST00000255380.4	+	5	2245	c.1466C>T	c.(1465-1467)gCg>gTg	p.A489V		NM_000740.2	NP_000731.1	P20309	ACM3_HUMAN	cholinergic receptor, muscarinic 3	489					cell proliferation (GO:0008283)|cellular protein modification process (GO:0006464)|energy reserve metabolic process (GO:0006112)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|G-protein coupled receptor signaling pathway (GO:0007186)|nervous system development (GO:0007399)|positive regulation of smooth muscle contraction (GO:0045987)|regulation of insulin secretion (GO:0050796)|regulation of vascular smooth muscle contraction (GO:0003056)|saliva secretion (GO:0046541)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|smooth muscle contraction (GO:0006939)	asymmetric synapse (GO:0032279)|axon terminus (GO:0043679)|cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|drug binding (GO:0008144)|G-protein coupled acetylcholine receptor activity (GO:0016907)|phosphatidylinositol phospholipase C activity (GO:0004435)|receptor activity (GO:0004872)			breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(19)|ovary(4)|prostate(1)|skin(12)|upper_aerodigestive_tract(1)	51	Ovarian(103;0.127)	all_cancers(173;0.00567)|all_neural(198;0.203)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		Aclidinium(DB08897)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Anisotropine Methylbromide(DB00517)|Aripiprazole(DB01238)|Atropine(DB00572)|Brompheniramine(DB00835)|Cevimeline(DB00185)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Cryptenamine(DB00785)|Cyproheptadine(DB00434)|Darifenacin(DB00496)|Desipramine(DB01151)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Disopyramide(DB00280)|Doxepin(DB01142)|Fesoterodine(DB06702)|Glycopyrrolate(DB00986)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Imipramine(DB00458)|Ipratropium bromide(DB00332)|Isopropamide(DB01625)|Ketamine(DB01221)|Loxapine(DB00408)|Maprotiline(DB00934)|Mepenzolate(DB04843)|Methacholine(DB06709)|Methotrimeprazine(DB01403)|Methylscopolamine bromide(DB00462)|Metixene(DB00340)|Mivacurium(DB01226)|Nicardipine(DB00622)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pancuronium(DB01337)|Paroxetine(DB00715)|Pethidine(DB00454)|Pilocarpine(DB01085)|Pipecuronium(DB01338)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Scopolamine(DB00747)|Solifenacin(DB01591)|Succinylcholine(DB00202)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tramadol(DB00193)|Trihexyphenidyl(DB00376)|Trimipramine(DB00726)|Tropicamide(DB00809)|Ziprasidone(DB00246)	GAGAAGAAAGCGGCCCAGACC	0.512																																						ENST00000255380.4																			0				breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(19)|ovary(4)|prostate(1)|skin(12)|upper_aerodigestive_tract(1)	51						c.(1465-1467)gCg>gTg		cholinergic receptor, muscarinic 3	Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Cevimeline(DB00185)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Darifenacin(DB00496)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Solifenacin(DB01591)|Thiethylperazine(DB00372)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tridihexethyl(DB00505)						136	129	132					1																	240072217		2203	4300	6503	SO:0001583	missense	1131				cell proliferation|energy reserve metabolic process|nervous system development|protein modification process|regulation of insulin secretion	basolateral plasma membrane|cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity	g.chr1:240072217C>T	U29589	CCDS1616.1	1q43	2012-09-20			ENSG00000133019	ENSG00000133019		"Cholinergic receptors", "GPCR / Class A : Cholinergic receptors, muscarinic"	1952	protein-coding gene	gene with protein product	"acetylcholine receptor, muscarinic 3"	118494					Standard	XM_005273032		Approved		uc001hyp.3	P20309	OTTHUMG00000039649	ENST00000255380.4:c.1466C>T	1.37:g.240072217C>T	ENSP00000255380:p.Ala489Val						p.A489V	NM_000740.2	NP_000731.1	P20309	ACM3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		5	2245	+	Ovarian(103;0.127)	all_cancers(173;0.00567)|all_neural(198;0.203)	489					Q0VAJ8|Q4QRI3|Q5VXY2|Q9HB60	Missense_Mutation	SNP	ENST00000255380.4	37	c.1466C>T	CCDS1616.1	.	.	.	.	.	.	.	.	.	.	C	18.53	3.643372	0.67244	.	.	ENSG00000133019	ENST00000255380	T	0.37752	1.18	5.85	5.85	0.93711	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.51753	0.1693	L	0.33293	1	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.35773	-0.9775	10	0.33940	T	0.23	-11.2982	20.1653	0.98150	0.0:1.0:0.0:0.0	.	489	P20309	ACM3_HUMAN	V	489	ENSP00000255380:A489V	ENSP00000255380:A489V	A	+	2	0	CHRM3	238138840	1.000000	0.71417	0.557000	0.28306	0.982000	0.71751	7.818000	0.86416	2.768000	0.95171	0.655000	0.94253	GCG		0.512	CHRM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095644.2	NM_000740		29	44	0	0	0	1	0	29	44					T	240072217	C	T	240072217	3	4	435	1	0	0	0	0	1	0	0	0	3378	768	27	1	1468	1	CHRM3	1	240072217	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	1436	240072217	9178404	925	21850											
FMN2	56776	broad.mit.edu	37	chr1	240370965	240370965	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccgccccctctacccggagcGgcaataccccctccgccccc	5	4	7	25	4	1	0	0	0	1	0	2	1	2	1	9	2	3	1	9	2	3	2	rs146070457	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:240370965G>A	ENST00000319653.9	+	5	3083	c.2853G>A	c.(2851-2853)gcG>gcA	p.A951A		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	951	FH1.|Pro-rich.				cellular response to DNA damage stimulus (GO:0006974)|cellular response to hypoxia (GO:0071456)|establishment of meiotic spindle localization (GO:0051295)|formin-nucleated actin cable assembly (GO:0070649)|homologous chromosome movement towards spindle pole involved in homologous chromosome segregation (GO:0051758)|intracellular signal transduction (GO:0035556)|intracellular transport (GO:0046907)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein catabolic process (GO:0042177)|oogenesis (GO:0048477)|polar body extrusion after meiotic divisions (GO:0040038)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cell cortex (GO:0005938)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|microvillus (GO:0005902)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|spindle (GO:0005819)	actin binding (GO:0003779)			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			TACCCGGAGCGGCAATACCCC	0.697																																						ENST00000319653.9																			0				NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178						c.(2851-2853)gcG>gcA		formin 2		G		0,4402		0,0,2201	24	28	27		2853	1.2	0	1	dbSNP_134	27	1,8593		0,1,4296	no	coding-synonymous	FMN2	NM_020066.4		0,1,6497	AA,AG,GG		0.0116,0.0,0.0077		951/1723	240370965	1,12995	2201	4297	6498	SO:0001819	synonymous_variant	56776				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding	g.chr1:240370965G>A	AF218942	CCDS31069.2	1q43	2008-02-05			ENSG00000155816	ENSG00000155816			14074	protein-coding gene	gene with protein product		606373				10781961	Standard	NM_020066		Approved		uc010pyd.2	Q9NZ56	OTTHUMG00000039883	ENST00000319653.9:c.2853G>A	1.37:g.240370965G>A							p.A951A	NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0106)		5	3083	+	Ovarian(103;0.127)	all_cancers(173;0.013)	951			FH1.|Pro-rich.		B0QZA7|B4DP05|Q59GF6|Q5VU37|Q9NZ55	Silent	SNP	ENST00000319653.9	37	c.2853G>A	CCDS31069.2																																																																																				0.697	FMN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096217.2	XM_371352		15	23	0	0	0	1	0	15	23					A	240370965	G	A	240370965	2	1	435	1	0	0	0	0	0	0	0	1	5950	1103	39	2		2	FMN2	1	240370965	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	298748	240370965	8879656	926	21851											
FMN2	56776	broad.mit.edu	37	chr1	240371408	240371408	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cggagcgggcataccccctcCgccccctctacccggagtgg	5	5	12	19	4	1	0	0	0	1	0	2	2	2	2	6	4	3	1	6	4	2	2	rs370099468	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:240371408C>T	ENST00000319653.9	+	5	3526	c.3296C>T	c.(3295-3297)cCg>cTg	p.P1099L		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	1099	FH1.|Pro-rich.				cellular response to DNA damage stimulus (GO:0006974)|cellular response to hypoxia (GO:0071456)|establishment of meiotic spindle localization (GO:0051295)|formin-nucleated actin cable assembly (GO:0070649)|homologous chromosome movement towards spindle pole involved in homologous chromosome segregation (GO:0051758)|intracellular signal transduction (GO:0035556)|intracellular transport (GO:0046907)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein catabolic process (GO:0042177)|oogenesis (GO:0048477)|polar body extrusion after meiotic divisions (GO:0040038)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cell cortex (GO:0005938)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|microvillus (GO:0005902)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|spindle (GO:0005819)	actin binding (GO:0003779)			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			ATACCCCCTCCGCCCCCTCTA	0.731													-|||	6	0.00119808	0.0045	0	5008	,	,		3202	0		0	False		,,,				2504	0					ENST00000319653.9																			0				NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178						c.(3295-3297)cCg>cTg		formin 2		C	LEU/PRO	6,3986		0,6,1990	6	8	7		3296	3	0	1		7	1,8095		0,1,4047	no	missense	FMN2	NM_020066.4	98	0,7,6037	TT,TC,CC		0.0124,0.1503,0.0579	benign	1099/1723	240371408	7,12081	1996	4048	6044	SO:0001583	missense	56776				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding	g.chr1:240371408C>T	AF218942	CCDS31069.2	1q43	2008-02-05			ENSG00000155816	ENSG00000155816			14074	protein-coding gene	gene with protein product		606373				10781961	Standard	NM_020066		Approved		uc010pyd.2	Q9NZ56	OTTHUMG00000039883	ENST00000319653.9:c.3296C>T	1.37:g.240371408C>T	ENSP00000318884:p.Pro1099Leu						p.P1099L	NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0106)		5	3526	+	Ovarian(103;0.127)	all_cancers(173;0.013)	1099			FH1.|Pro-rich.		B0QZA7|B4DP05|Q59GF6|Q5VU37|Q9NZ55	Missense_Mutation	SNP	ENST00000319653.9	37	c.3296C>T	CCDS31069.2	.	.	.	.	.	.	.	.	.	.	c	9.243	1.038711	0.19669	0.001503	1.24E-4	ENSG00000155816	ENST00000319653	T	0.65549	-0.16	3.0	3.0	0.34707	Actin-binding FH2/DRF autoregulatory (1);Formin Homology 1 (2);	0.000000	0.52532	U	0.000066	T	0.63295	0.2499	M	0.86740	2.835	0.49798	D	0.999825	B	0.29766	0.256	B	0.19148	0.024	T	0.67987	-0.5528	9	.	.	.	.	14.0458	0.64704	0.0:1.0:0.0:0.0	.	1099	Q9NZ56	FMN2_HUMAN	L	1099	ENSP00000318884:P1099L	.	P	+	2	0	FMN2	238438031	0.195000	0.23338	0.004000	0.12327	0.004000	0.04260	3.341000	0.52151	1.675000	0.50919	0.484000	0.47621	CCG		0.731	FMN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096217.2	XM_371352		8	22	0	0	0	1	0	8	22					T	240371408	C	T	240371408	3	4	435	1	0	0	0	0	1	0	0	0	5950	652	23	2	3314	2	FMN2	1	240371408	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	443	240371408	8879213	927	21852											
FMN2	56776	broad.mit.edu	37	chr1	240371758	240371758	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ctcctcccttgccaggtatgGggattccacctgctccagct	5	11	9	16	0	0	0	0	0	0	0	4	1	4	1	6	3	3	3	6	3	1	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:240371758G>A	ENST00000319653.9	+	5	3876	c.3646G>A	c.(3646-3648)Ggg>Agg	p.G1216R		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	1216	FH1.|Pro-rich.				cellular response to DNA damage stimulus (GO:0006974)|cellular response to hypoxia (GO:0071456)|establishment of meiotic spindle localization (GO:0051295)|formin-nucleated actin cable assembly (GO:0070649)|homologous chromosome movement towards spindle pole involved in homologous chromosome segregation (GO:0051758)|intracellular signal transduction (GO:0035556)|intracellular transport (GO:0046907)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein catabolic process (GO:0042177)|oogenesis (GO:0048477)|polar body extrusion after meiotic divisions (GO:0040038)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cell cortex (GO:0005938)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|microvillus (GO:0005902)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|spindle (GO:0005819)	actin binding (GO:0003779)			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			GCCAGGTATGGGGATTCCACC	0.642																																						ENST00000319653.9																			0				NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178						c.(3646-3648)Ggg>Agg		formin 2							24	24	24					1																	240371758		2202	4300	6502	SO:0001583	missense	56776				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding	g.chr1:240371758G>A	AF218942	CCDS31069.2	1q43	2008-02-05			ENSG00000155816	ENSG00000155816			14074	protein-coding gene	gene with protein product		606373				10781961	Standard	NM_020066		Approved		uc010pyd.2	Q9NZ56	OTTHUMG00000039883	ENST00000319653.9:c.3646G>A	1.37:g.240371758G>A	ENSP00000318884:p.Gly1216Arg						p.G1216R	NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0106)		5	3876	+	Ovarian(103;0.127)	all_cancers(173;0.013)	1216			FH1.|Pro-rich.		B0QZA7|B4DP05|Q59GF6|Q5VU37|Q9NZ55	Missense_Mutation	SNP	ENST00000319653.9	37	c.3646G>A	CCDS31069.2	.	.	.	.	.	.	.	.	.	.	g	8.246	0.807954	0.16467	.	.	ENSG00000155816	ENST00000319653	T	0.59364	0.27	4.33	1.37	0.22104	Actin-binding FH2/DRF autoregulatory (1);Formin Homology 1 (1);	.	.	.	.	T	0.55465	0.1922	M	0.80422	2.495	0.31161	N	0.704298	P	0.36330	0.548	B	0.38020	0.263	T	0.56938	-0.7896	8	.	.	.	.	4.9017	0.13779	0.1598:0.0:0.5455:0.2947	.	1216	Q9NZ56	FMN2_HUMAN	R	1216	ENSP00000318884:G1216R	.	G	+	1	0	FMN2	238438381	1.000000	0.71417	0.345000	0.25642	0.844000	0.47949	3.096000	0.50243	0.101000	0.17610	0.472000	0.43445	GGG		0.642	FMN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096217.2	XM_371352		3	6	0	0	0	1	0	3	6					A	240371758	G	A	240371758	3	1	435	1	0	0	0	0	1	0	0	0	5950	1232	43	3	3664	3	FMN2	1	240371758	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	350	240371758	8878863	928	21853											
FMN2	56776	broad.mit.edu	37	chr1	240372032	240372032	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gattcaactacatagtaaaaGgtaacatgaaagtgagctcg	17	9	9	6	1	1	2	1	2	0	0	2	3	1	2	0	1	4	3	0	1	7	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:240372032G>T	ENST00000319653.9	+	5	4150	c.3920G>T	c.(3919-3921)aGa>aTa	p.R1307I		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	1307	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.				cellular response to DNA damage stimulus (GO:0006974)|cellular response to hypoxia (GO:0071456)|establishment of meiotic spindle localization (GO:0051295)|formin-nucleated actin cable assembly (GO:0070649)|homologous chromosome movement towards spindle pole involved in homologous chromosome segregation (GO:0051758)|intracellular signal transduction (GO:0035556)|intracellular transport (GO:0046907)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein catabolic process (GO:0042177)|oogenesis (GO:0048477)|polar body extrusion after meiotic divisions (GO:0040038)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cell cortex (GO:0005938)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|microvillus (GO:0005902)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|spindle (GO:0005819)	actin binding (GO:0003779)			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			CATAGTAAAAGGTAACATGAA	0.418																																						ENST00000319653.9																			0				NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178						c.e5+1		formin 2							65	71	69					1																	240372032		2203	4300	6503	SO:0001630	splice_region_variant	56776				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding	g.chr1:240372032G>T	AF218942	CCDS31069.2	1q43	2008-02-05			ENSG00000155816	ENSG00000155816			14074	protein-coding gene	gene with protein product		606373				10781961	Standard	NM_020066		Approved		uc010pyd.2	Q9NZ56	OTTHUMG00000039883	ENST00000319653.9:c.3920+1G>T	1.37:g.240372032G>T							p.R1307_splice	NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0106)		5	4150	+	Ovarian(103;0.127)	all_cancers(173;0.013)	1307			FH2.		B0QZA7|B4DP05|Q59GF6|Q5VU37|Q9NZ55	Splice_Site	SNP	ENST00000319653.9	37	c.3920_splice	CCDS31069.2	.	.	.	.	.	.	.	.	.	.	G	14.68	2.608259	0.46527	.	.	ENSG00000155816	ENST00000319653	T	0.19394	2.15	4.81	3.9	0.45041	Actin-binding FH2/DRF autoregulatory (1);Actin-binding FH2 (3);	0.000000	0.64402	U	0.000007	T	0.38665	0.1049	M	0.78344	2.41	0.80722	D	1	P	0.47106	0.89	P	0.55713	0.782	T	0.15378	-1.0439	9	.	.	.	.	10.1865	0.43000	0.0766:0.1362:0.7872:0.0	.	1307	Q9NZ56	FMN2_HUMAN	I	1307	ENSP00000318884:R1307I	.	R	+	2	0	FMN2	238438655	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	4.710000	0.61873	1.019000	0.39547	0.478000	0.44815	AGA		0.418	FMN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096217.2	XM_371352	Missense_Mutation	13	23	1	0	3.27435e-08	1	3.44876e-08	13	23					T	240372032	G	T	240372032	5	4	435	1	0	0	0	0	0	0	1	0	5950	1014	35	5	3938	5	FMN2	1	240372032	Splice_Site	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	274	240372032	8878589	929	21854											
GREM2	64388	broad.mit.edu	37	chr1	240656719	240656719	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggccggttcttccgggcttcCgccaccttcaccagcaccgc	4	8	10	19	4	2	0	1	0	1	0	4	0	4	0	7	3	1	3	7	3	0	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:240656719C>T	ENST00000318160.4	-	2	323	c.57G>A	c.(55-57)gcG>gcA	p.A19A		NM_022469.3	NP_071914.3	Q9H772	GREM2_HUMAN	gremlin 2, DAN family BMP antagonist	19					BMP signaling pathway (GO:0030509)|cytokine-mediated signaling pathway (GO:0019221)|determination of dorsal identity (GO:0048263)|embryonic body morphogenesis (GO:0010172)|regulation of cytokine activity (GO:0060300)|sequestering of BMP from receptor via BMP binding (GO:0038098)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	heparin binding (GO:0008201)			endometrium(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	10		all_cancers(173;0.0196)	OV - Ovarian serous cystadenocarcinoma(106;0.0123)			TCCGGGCTTCCGCCACCTTCA	0.617																																						ENST00000318160.4																			0				endometrium(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	10						c.(55-57)gcG>gcA		gremlin 2, DAN family BMP antagonist							11	13	12					1																	240656719		2173	4257	6430	SO:0001819	synonymous_variant	64388				BMP signaling pathway	extracellular space	cytokine activity	g.chr1:240656719C>T	AK024848	CCDS31070.1	1q43	2013-02-26	2013-02-26		ENSG00000180875	ENSG00000180875			17655	protein-coding gene	gene with protein product	"protein related to DAN and cerberus"	608832	"gremlin 2, cysteine knot superfamily, homolog (Xenopus laevis)", "gremlin 2"			15039429	Standard	XM_005273226		Approved	Prdc, FLJ21195, CKTSF1B2, DAND3	uc001hys.3	Q9H772	OTTHUMG00000039909	ENST00000318160.4:c.57G>A	1.37:g.240656719C>T							p.A19A	NM_022469.3	NP_071914.3	Q9H772	GREM2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0123)		2	323	-		all_cancers(173;0.0196)	19					Q86UD9	Silent	SNP	ENST00000318160.4	37	c.57G>A	CCDS31070.1																																																																																				0.617	GREM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096286.1	NM_022469		8	14	0	0	0	1	0	8	14					T	240656719	C	T	240656719	2	4	435	1	0	0	0	0	0	0	0	1	6762	639	23	2		2	GREM2	1	240656719	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	284687	240656719	8593902	930	21855											
RGS7	6000	broad.mit.edu	37	chr1	241033418	241033418	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gttctcttgcagaggtaaacGgctgaaaaaaaaatcaatca	17	9	8	7	1	3	2	2	1	1	1	4	2	3	2	0	2	2	4	0	2	7	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:241033418G>A	ENST00000407727.1	-	6	386	c.387C>T	c.(385-387)gcC>gcT	p.A129A	RGS7_ENST00000366565.1_Splice_Site_p.A129A|RGS7_ENST00000348120.2_Splice_Site_p.A76A|RGS7_ENST00000401882.1_Splice_Site_p.A76A|RGS7_ENST00000446183.2_Splice_Site_p.A45A|RGS7_ENST00000366562.4_Splice_Site_p.A129A|RGS7_ENST00000366564.1_Splice_Site_p.A129A|RGS7_ENST00000331110.7_Splice_Site_p.A103A|RGS7_ENST00000366563.1_Splice_Site_p.A129A			P49802	RGS7_HUMAN	regulator of G-protein signaling 7	129					G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|positive regulation of GTPase activity (GO:0043547)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite terminus (GO:0044292)|heterotrimeric G-protein complex (GO:0005834)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	G-protein beta-subunit binding (GO:0031681)|GTPase activator activity (GO:0005096)|signal transducer activity (GO:0004871)			breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(51)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76		all_cancers(173;0.0131)	OV - Ovarian serous cystadenocarcinoma(106;0.027)			AGAGGTAAACGGCTGAAAAAA	0.413																																						ENST00000366565.1																			0				breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(51)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76						c.e7-1		regulator of G-protein signaling 7							164	143	150					1																	241033418		2203	4300	6503	SO:0001630	splice_region_variant	6000				G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|protein binding|signal transducer activity	g.chr1:241033418G>A	BC022009	CCDS31071.1, CCDS60457.1, CCDS60458.1, CCDS60459.1	1q43	2008-02-05	2007-08-14		ENSG00000182901	ENSG00000182901		"Regulators of G-protein signaling"	10003	protein-coding gene	gene with protein product		602517	"regulator of G-protein signalling 7"			8548815	Standard	XM_005273218		Approved		uc001hyv.2	P49802	OTTHUMG00000040107	ENST00000407727.1:c.386-1C>T	1.37:g.241033418G>A						RGS7_ENST00000446183.2_Splice_Site_p.A45_splice|RGS7_ENST00000331110.7_Splice_Site_p.A103_splice|RGS7_ENST00000366563.1_Splice_Site_p.A129_splice|RGS7_ENST00000348120.2_Splice_Site_p.A76_splice|RGS7_ENST00000401882.1_Splice_Site_p.A76_splice|RGS7_ENST00000366564.1_Splice_Site_p.A129_splice|RGS7_ENST00000366562.4_Splice_Site_p.A129_splice|RGS7_ENST00000407727.1_Splice_Site_p.A129_splice	p.A129_splice	NM_002924.4	NP_002915.3	P49802	RGS7_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.027)		7	768	-		all_cancers(173;0.0131)	129					Q5T3H4|Q8TD66|Q8TD67|Q8WW09|Q9UNU7|Q9Y6B9	Splice_Site	SNP	ENST00000407727.1	37	c.385_splice																																																																																					0.413	RGS7-204	KNOWN	basic	protein_coding	protein_coding		NM_002924	Silent	29	41	0	0	0	1	0	29	41					A	241033418	G	A	241033418	5	1	435	1	0	0	0	0	0	0	1	0	13310	1130	39	2	1124	2	RGS7	1	241033418	Splice_Site	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	376699	241033418	8217203	931	21856											
FH	2271	broad.mit.edu	37	chr1	241665775	241665775	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaaacattcaactcaaaatGtccattgctgcctccgacag	14	9	6	12	1	2	0	2	0	0	0	4	2	4	0	3	0	4	1	3	0	5	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:241665775G>A	ENST00000366560.3	-	8	1242	c.1204C>T	c.(1204-1206)Cat>Tat	p.H402Y		NM_000143.3	NP_000134.2	P07954	FUMH_HUMAN	fumarate hydratase	402					cellular metabolic process (GO:0044237)|fumarate metabolic process (GO:0006106)|homeostasis of number of cells within a tissue (GO:0048873)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|tricarboxylic acid cycle enzyme complex (GO:0045239)	fumarate hydratase activity (GO:0004333)			biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|skin(2)	26	Ovarian(103;0.103)	all_cancers(173;2.37e-314)|all_epithelial(177;5.17e-286)|Breast(1374;1.06e-10)|Acute lymphoblastic leukemia(190;4.93e-10)|all_neural(198;0.00118)	OV - Ovarian serous cystadenocarcinoma(106;0.0214)	Colorectal(1306;2.33e-53)|COAD - Colon adenocarcinoma(196;1.05e-44)|KIRC - Kidney renal clear cell carcinoma(1967;0.000109)		AACTCAAAATGTCCATTGCTG	0.403			"Mis, N, F"			"lieomyomatosis, renal"			Hereditary Leiomyomatosis and Renal Cell Cancer																												Melanoma(148;1573 2486 7381 46575)	ENST00000366560.3			yes	Rec		hereditary leiomyomatosis and renal cell cancer	1	1q42.1	2271	"Mis, N, F"	fumarate hydratase			"E, M"		"lieomyomatosis, renal"			0				biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|skin(2)	26						c.(1204-1206)Cat>Tat		fumarate hydratase							79	68	72					1																	241665775		2203	4300	6503	SO:0001583	missense	2271	Hereditary Leiomyomatosis and Renal Cell Cancer	Familial Cancer Database	HLRCC, Reed syndrome, Hereditary Multiple Leiomyomata of Skin and Uterus	fumarate metabolic process|tricarboxylic acid cycle	cell junction|mitochondrial matrix|tricarboxylic acid cycle enzyme complex	fumarate hydratase activity	g.chr1:241665775G>A	BC003108	CCDS1617.1	1q42.1	2014-09-17			ENSG00000091483	ENSG00000091483	4.2.1.2		3700	protein-coding gene	gene with protein product		136850					Standard	NM_000143		Approved	fumarase	uc001hyx.3	P07954	OTTHUMG00000039597	ENST00000366560.3:c.1204C>T	1.37:g.241665775G>A	ENSP00000355518:p.His402Tyr						p.H402Y	NM_000143.3	NP_000134.2	P07954	FUMH_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0214)	Colorectal(1306;2.33e-53)|COAD - Colon adenocarcinoma(196;1.05e-44)|KIRC - Kidney renal clear cell carcinoma(1967;0.000109)	8	1242	-	Ovarian(103;0.103)	all_cancers(173;2.37e-314)|all_epithelial(177;5.17e-286)|Breast(1374;1.06e-10)|Acute lymphoblastic leukemia(190;4.93e-10)|all_neural(198;0.00118)	402					B1ANK7	Missense_Mutation	SNP	ENST00000366560.3	37	c.1204C>T	CCDS1617.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.232049	0.79688	.	.	ENSG00000091483	ENST00000366560	D	0.89617	-2.54	5.61	5.61	0.85477	L-Aspartase-like (1);	0.090102	0.85682	D	0.000000	D	0.93657	0.7974	M	0.79693	2.465	0.80722	D	1	D	0.76494	0.999	D	0.67548	0.952	D	0.93964	0.7243	10	0.87932	D	0	-35.2641	12.131	0.53942	0.0:0.0:0.8288:0.1712	.	402	P07954	FUMH_HUMAN	Y	402	ENSP00000355518:H402Y	ENSP00000355518:H402Y	H	-	1	0	FH	239732398	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.229000	0.95273	2.650000	0.89964	0.655000	0.94253	CAT		0.403	FH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095490.1	NM_000143		17	43	0	0	0	1	0	17	43					A	241665775	G	A	241665775	3	1	435	1	0	0	0	0	1	0	0	0	5875	1377	48	3	340	3	FH	1	241665775	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	632357	241665775	7584846	932	21857											
OPN3	23596	broad.mit.edu	37	chr1	241767567	241767567	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tagtcttcaactcaccattcGaatggaatatagaatatggc	14	12	7	8	1	3	1	2	0	1	1	4	3	3	2	1	2	1	0	1	2	8	6			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:241767567G>A	ENST00000366554.2	-	2	794	c.688C>T	c.(688-690)Cga>Tga	p.R230*	OPN3_ENST00000331838.5_Intron|OPN3_ENST00000469376.1_Intron	NM_014322.2	NP_055137.2	Q9H1Y3	OPN3_HUMAN	opsin 3	230					detection of light stimulus (GO:0009583)|detection of visible light (GO:0009584)|G-protein coupled receptor signaling pathway (GO:0007186)|phototransduction (GO:0007602)|protein-chromophore linkage (GO:0018298)|regulation of circadian rhythm (GO:0042752)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	G-protein coupled photoreceptor activity (GO:0008020)|G-protein coupled receptor activity (GO:0004930)|photoreceptor activity (GO:0009881)			endometrium(1)|large_intestine(5)|lung(5)	11	Ovarian(103;0.103)|all_lung(81;0.23)	all_cancers(173;0.0231)	OV - Ovarian serous cystadenocarcinoma(106;0.0125)			CTCACCATTCGAATGGAATAT	0.448																																						ENST00000366554.2																			0				endometrium(1)|large_intestine(5)|lung(5)	11						c.(688-690)Cga>Tga		opsin 3							60	62	61					1																	241767567		2203	4300	6503	SO:0001587	stop_gained	23596				phototransduction|protein-chromophore linkage|regulation of circadian rhythm|visual perception	integral to plasma membrane	G-protein coupled photoreceptor activity	g.chr1:241767567G>A	AF140242	CCDS31072.1	1q43	2014-06-13	2008-04-16		ENSG00000054277	ENSG00000054277		"GPCR / Class A : Opsin receptors"	14007	protein-coding gene	gene with protein product	"panopsin", "protein phosphatase 1, regulatory subunit 116"	606695	"encephalopsin"	ECPN		10234000, 11401433	Standard	NM_014322		Approved	ERO, NMO-1, encephalopsin, PPP1R116	uc001hza.3	Q9H1Y3	OTTHUMG00000039691	ENST00000366554.2:c.688C>T	1.37:g.241767567G>A	ENSP00000355512:p.Arg230*					OPN3_ENST00000469376.1_Intron|OPN3_ENST00000331838.5_Intron	p.R230*	NM_014322.2	NP_055137.2	Q9H1Y3	OPN3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0125)		2	794	-	Ovarian(103;0.103)|all_lung(81;0.23)	all_cancers(173;0.0231)	230					Q8IX08|Q9Y344	Nonsense_Mutation	SNP	ENST00000366554.2	37	c.688C>T	CCDS31072.1	.	.	.	.	.	.	.	.	.	.	G	36	5.685933	0.96784	.	.	ENSG00000054277	ENST00000366554	.	.	.	5.05	3.07	0.35406	.	0.340679	0.28042	N	0.016822	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.09843	T	0.71	.	8.4224	0.32710	0.0783:0.0:0.6848:0.237	.	.	.	.	X	230	.	ENSP00000355512:R230X	R	-	1	2	OPN3	239834190	0.996000	0.38824	0.994000	0.49952	0.854000	0.48673	0.797000	0.26999	1.130000	0.42092	0.650000	0.86243	CGA		0.448	OPN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095713.1	NM_014322		13	21	0	0	0	1	0	13	21					A	241767567	G	A	241767567	4	1	435	1	0	0	0	0	0	1	0	0	10881	1066	37	2	532	2	OPN3	1	241767567	Nonsense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	101792	241767567	7483054	933	21858											
OPN3	23596	broad.mit.edu	37	chr1	241767744	241767744	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gttccatcccaggagaggtgCtcctgcccacgccagtgagt	7	8	12	14	1	0	2	0	1	0	1	3	3	3	2	5	2	2	2	5	2	0	1	rs138070733	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:241767744C>A	ENST00000366554.2	-	2	617	c.511G>T	c.(511-513)Gca>Tca	p.A171S	OPN3_ENST00000331838.5_Intron|OPN3_ENST00000469376.1_5'UTR	NM_014322.2	NP_055137.2	Q9H1Y3	OPN3_HUMAN	opsin 3	171					detection of light stimulus (GO:0009583)|detection of visible light (GO:0009584)|G-protein coupled receptor signaling pathway (GO:0007186)|phototransduction (GO:0007602)|protein-chromophore linkage (GO:0018298)|regulation of circadian rhythm (GO:0042752)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	G-protein coupled photoreceptor activity (GO:0008020)|G-protein coupled receptor activity (GO:0004930)|photoreceptor activity (GO:0009881)			endometrium(1)|large_intestine(5)|lung(5)	11	Ovarian(103;0.103)|all_lung(81;0.23)	all_cancers(173;0.0231)	OV - Ovarian serous cystadenocarcinoma(106;0.0125)			AGGAGAGGTGCTCCTGCCCAC	0.542																																						ENST00000366554.2																			0				endometrium(1)|large_intestine(5)|lung(5)	11						c.(511-513)Gca>Tca		opsin 3		C	SER/ALA	0,4406		0,0,2203	113	97	103		511	3.2	0.9	1	dbSNP_134	103	1,8599	1.2+/-3.3	0,1,4299	no	missense	OPN3	NM_014322.2	99	0,1,6502	AA,AC,CC		0.0116,0.0,0.0077	probably-damaging	171/403	241767744	1,13005	2203	4300	6503	SO:0001583	missense	23596				phototransduction|protein-chromophore linkage|regulation of circadian rhythm|visual perception	integral to plasma membrane	G-protein coupled photoreceptor activity	g.chr1:241767744C>A	AF140242	CCDS31072.1	1q43	2014-06-13	2008-04-16		ENSG00000054277	ENSG00000054277		"GPCR / Class A : Opsin receptors"	14007	protein-coding gene	gene with protein product	"panopsin", "protein phosphatase 1, regulatory subunit 116"	606695	"encephalopsin"	ECPN		10234000, 11401433	Standard	NM_014322		Approved	ERO, NMO-1, encephalopsin, PPP1R116	uc001hza.3	Q9H1Y3	OTTHUMG00000039691	ENST00000366554.2:c.511G>T	1.37:g.241767744C>A	ENSP00000355512:p.Ala171Ser					OPN3_ENST00000469376.1_5'UTR|OPN3_ENST00000331838.5_Intron	p.A171S	NM_014322.2	NP_055137.2	Q9H1Y3	OPN3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0125)		2	617	-	Ovarian(103;0.103)|all_lung(81;0.23)	all_cancers(173;0.0231)	171					Q8IX08|Q9Y344	Missense_Mutation	SNP	ENST00000366554.2	37	c.511G>T	CCDS31072.1	.	.	.	.	.	.	.	.	.	.	C	19.39	3.817636	0.70912	0.0	1.16E-4	ENSG00000054277	ENST00000366554	T	0.37235	1.21	5.24	3.24	0.37175	GPCR, rhodopsin-like superfamily (1);	0.058463	0.64402	D	0.000002	T	0.53142	0.1778	M	0.67700	2.07	0.80722	D	1	D	0.76494	0.999	D	0.70227	0.968	T	0.55692	-0.8101	10	0.87932	D	0	.	9.4777	0.38882	0.2867:0.5745:0.1388:0.0	.	171	Q9H1Y3	OPN3_HUMAN	S	171	ENSP00000355512:A171S	ENSP00000355512:A171S	A	-	1	0	OPN3	239834367	1.000000	0.71417	0.918000	0.36340	0.995000	0.86356	3.355000	0.52262	1.202000	0.43218	0.650000	0.86243	GCA		0.542	OPN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095713.1	NM_014322		15	21	1	0	1.5739e-10	1	1.6844e-10	15	21					A	241767744	C	A	241767744	3	1	435	1	0	0	0	0	1	0	0	0	10881	797	28	5	709	5	OPN3	1	241767744	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	177	241767744	7482877	934	21859											
OPN3	23596	broad.mit.edu	37	chr1	241767867	241767867	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggccagcacggttagggtggCaatggaaacaatccctgcaa	12	6	13	10	1	0	0	0	0	0	0	1	1	1	1	2	5	3	4	2	5	5	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:241767867C>T	ENST00000366554.2	-	2	494	c.388G>A	c.(388-390)Gcc>Acc	p.A130T	OPN3_ENST00000331838.5_Intron|OPN3_ENST00000469376.1_5'UTR	NM_014322.2	NP_055137.2	Q9H1Y3	OPN3_HUMAN	opsin 3	130					detection of light stimulus (GO:0009583)|detection of visible light (GO:0009584)|G-protein coupled receptor signaling pathway (GO:0007186)|phototransduction (GO:0007602)|protein-chromophore linkage (GO:0018298)|regulation of circadian rhythm (GO:0042752)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	G-protein coupled photoreceptor activity (GO:0008020)|G-protein coupled receptor activity (GO:0004930)|photoreceptor activity (GO:0009881)			endometrium(1)|large_intestine(5)|lung(5)	11	Ovarian(103;0.103)|all_lung(81;0.23)	all_cancers(173;0.0231)	OV - Ovarian serous cystadenocarcinoma(106;0.0125)			GTTAGGGTGGCAATGGAAACA	0.498																																						ENST00000366554.2																			0				endometrium(1)|large_intestine(5)|lung(5)	11						c.(388-390)Gcc>Acc		opsin 3							53	53	53					1																	241767867		2203	4300	6503	SO:0001583	missense	23596				phototransduction|protein-chromophore linkage|regulation of circadian rhythm|visual perception	integral to plasma membrane	G-protein coupled photoreceptor activity	g.chr1:241767867C>T	AF140242	CCDS31072.1	1q43	2014-06-13	2008-04-16		ENSG00000054277	ENSG00000054277		"GPCR / Class A : Opsin receptors"	14007	protein-coding gene	gene with protein product	"panopsin", "protein phosphatase 1, regulatory subunit 116"	606695	"encephalopsin"	ECPN		10234000, 11401433	Standard	NM_014322		Approved	ERO, NMO-1, encephalopsin, PPP1R116	uc001hza.3	Q9H1Y3	OTTHUMG00000039691	ENST00000366554.2:c.388G>A	1.37:g.241767867C>T	ENSP00000355512:p.Ala130Thr					OPN3_ENST00000469376.1_5'UTR|OPN3_ENST00000331838.5_Intron	p.A130T	NM_014322.2	NP_055137.2	Q9H1Y3	OPN3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0125)		2	494	-	Ovarian(103;0.103)|all_lung(81;0.23)	all_cancers(173;0.0231)	130					Q8IX08|Q9Y344	Missense_Mutation	SNP	ENST00000366554.2	37	c.388G>A	CCDS31072.1	.	.	.	.	.	.	.	.	.	.	C	13.80	2.344212	0.41498	.	.	ENSG00000054277	ENST00000366554	T	0.37752	1.18	5.24	2.93	0.34026	GPCR, rhodopsin-like superfamily (1);	0.156369	0.56097	N	0.000034	T	0.12817	0.0311	N	0.02916	-0.46	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.07443	-1.0772	10	0.29301	T	0.29	.	3.4765	0.07586	0.166:0.1859:0.0:0.6481	.	130	Q9H1Y3	OPN3_HUMAN	T	130	ENSP00000355512:A130T	ENSP00000355512:A130T	A	-	1	0	OPN3	239834490	1.000000	0.71417	0.962000	0.40283	0.996000	0.88848	2.208000	0.42797	0.333000	0.23563	0.650000	0.86243	GCC		0.498	OPN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095713.1	NM_014322		8	12	0	0	0	1	0	8	12					T	241767867	C	T	241767867	3	4	435	1	0	0	0	0	1	0	0	0	10881	710	25	3	832	3	OPN3	1	241767867	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	123	241767867	7482754	935	21860											
MAP1LC3C	440738	broad.mit.edu	37	chr1	242159540	242159540	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gactccaggcagccaaatgtCtcctgggaggcgtaggtcat	9	8	13	11	1	2	0	1	0	1	0	4	2	3	1	3	4	1	2	3	4	2	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:242159540C>A	ENST00000357246.3	-	4	433	c.369G>T	c.(367-369)gaG>gaT	p.E123D		NM_001004343.2	NP_001004343.1	Q9BXW4	MLP3C_HUMAN	microtubule-associated protein 1 light chain 3 gamma	123					autophagy (GO:0006914)	autophagic vacuole (GO:0005776)|cytoplasmic vesicle (GO:0031410)|microtubule (GO:0005874)|organelle membrane (GO:0031090)				endometrium(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	13			OV - Ovarian serous cystadenocarcinoma(106;0.0188)			AGCCAAATGTCTCCTGGGAGG	0.567																																						ENST00000357246.3																			0				endometrium(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	13						c.(367-369)gaG>gaT		microtubule-associated protein 1 light chain 3 gamma							148	131	137					1																	242159540		2203	4300	6503	SO:0001583	missense	440738				autophagy	autophagic vacuole membrane|cytoplasmic vesicle|endomembrane system|microtubule	protein binding	g.chr1:242159540C>A	AF276659	CCDS31074.1	1q43	2014-02-12			ENSG00000197769	ENSG00000197769			13353	protein-coding gene	gene with protein product		609605				12740394	Standard	NM_001004343		Approved	ATG8J	uc001hzk.2	Q9BXW4	OTTHUMG00000039865	ENST00000357246.3:c.369G>T	1.37:g.242159540C>A	ENSP00000349785:p.Glu123Asp						p.E123D	NM_001004343.2	NP_001004343.1	Q9BXW4	MLP3C_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0188)		4	433	-			123					A0PJY8|A2RUP0	Missense_Mutation	SNP	ENST00000357246.3	37	c.369G>T	CCDS31074.1	.	.	.	.	.	.	.	.	.	.	C	16.24	3.067311	0.55539	.	.	ENSG00000197769	ENST00000357246	T	0.44482	0.92	4.11	4.11	0.48088	.	0.052887	0.85682	D	0.000000	T	0.42698	0.1214	M	0.71206	2.165	0.46396	D	0.999023	B	0.06786	0.001	B	0.23574	0.047	T	0.41016	-0.9532	10	0.41790	T	0.15	.	10.8676	0.46864	0.0:0.9062:0.0:0.0938	.	123	Q9BXW4	MLP3C_HUMAN	D	123	ENSP00000349785:E123D	ENSP00000349785:E123D	E	-	3	2	MAP1LC3C	240226163	1.000000	0.71417	0.970000	0.41538	0.761000	0.43186	2.497000	0.45354	2.117000	0.64856	0.643000	0.83706	GAG		0.567	MAP1LC3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096185.1	NM_001004343		26	39	1	0	1.1804e-14	1	1.28927e-14	26	39					A	242159540	C	A	242159540	3	1	435	1	0	0	0	0	1	0	0	0	9233	912	32	5	78	5	MAP1LC3C	1	242159540	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	391673	242159540	7091081	936	21861											
MAP1LC3C	440738	broad.mit.edu	37	chr1	242159571	242159571	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cgtaggtcatgtacacgaagCcatcctcatccttgtagtct	9	12	8	12	2	3	0	2	0	1	0	5	1	5	0	3	1	2	3	3	1	4	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:242159571C>A	ENST00000357246.3	-	4	402	c.338G>T	c.(337-339)gGc>gTc	p.G113V		NM_001004343.2	NP_001004343.1	Q9BXW4	MLP3C_HUMAN	microtubule-associated protein 1 light chain 3 gamma	113					autophagy (GO:0006914)	autophagic vacuole (GO:0005776)|cytoplasmic vesicle (GO:0031410)|microtubule (GO:0005874)|organelle membrane (GO:0031090)				endometrium(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	13			OV - Ovarian serous cystadenocarcinoma(106;0.0188)			GTACACGAAGCCATCCTCATC	0.557																																						ENST00000357246.3																			0				endometrium(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	13						c.(337-339)gGc>gTc		microtubule-associated protein 1 light chain 3 gamma							212	183	193					1																	242159571		2203	4300	6503	SO:0001583	missense	440738				autophagy	autophagic vacuole membrane|cytoplasmic vesicle|endomembrane system|microtubule	protein binding	g.chr1:242159571C>A	AF276659	CCDS31074.1	1q43	2014-02-12			ENSG00000197769	ENSG00000197769			13353	protein-coding gene	gene with protein product		609605				12740394	Standard	NM_001004343		Approved	ATG8J	uc001hzk.2	Q9BXW4	OTTHUMG00000039865	ENST00000357246.3:c.338G>T	1.37:g.242159571C>A	ENSP00000349785:p.Gly113Val						p.G113V	NM_001004343.2	NP_001004343.1	Q9BXW4	MLP3C_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0188)		4	402	-			113					A0PJY8|A2RUP0	Missense_Mutation	SNP	ENST00000357246.3	37	c.338G>T	CCDS31074.1	.	.	.	.	.	.	.	.	.	.	C	20.5	4.004330	0.74932	.	.	ENSG00000197769	ENST00000357246	T	0.46819	0.86	4.18	3.26	0.37387	.	0.000000	0.85682	D	0.000000	T	0.73892	0.3645	M	0.94021	3.485	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.79480	-0.1786	10	0.87932	D	0	.	11.3885	0.49800	0.0:0.9105:0.0:0.0895	.	113	Q9BXW4	MLP3C_HUMAN	V	113	ENSP00000349785:G113V	ENSP00000349785:G113V	G	-	2	0	MAP1LC3C	240226194	1.000000	0.71417	0.997000	0.53966	0.947000	0.59692	5.110000	0.64622	0.966000	0.38159	0.643000	0.83706	GGC		0.557	MAP1LC3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096185.1	NM_001004343		31	63	1	0	3.1745e-13	1	3.44526e-13	31	63					A	242159571	C	A	242159571	3	1	435	1	0	0	0	0	1	0	0	0	9233	739	26	5	109	5	MAP1LC3C	1	242159571	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	31	242159571	7091050	937	21862											
CEP170	9859	broad.mit.edu	37	chr1	243303262	243303262	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atccctgctccaggttctccGccttgtaattgttaagtgat	7	15	8	11	1	1	1	0	1	1	0	4	1	3	1	4	1	1	4	4	1	2	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:243303262G>A	ENST00000366542.1	-	16	4258	c.4207C>T	c.(4207-4209)Cgg>Tgg	p.R1403W	CEP170_ENST00000481987.1_Missense_Mutation_p.R139W|RP11-261C10.5_ENST00000439562.1_RNA|CEP170_ENST00000366543.1_Missense_Mutation_p.R1279W|CEP170_ENST00000468254.1_5'UTR|CEP170_ENST00000490813.1_Missense_Mutation_p.R112W|CEP170_ENST00000366544.1_Missense_Mutation_p.R1305W	NM_014812.2	NP_055627.2	Q5SW79	CE170_HUMAN	centrosomal protein 170kDa	1403	Targeting to centrosomes.|Targeting to microtubules.					centriole (GO:0005814)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|nuclear membrane (GO:0031965)		p.R1403W(1)		NS(1)|breast(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	62	all_neural(11;0.101)	all_cancers(173;0.003)	all cancers(7;5.81e-06)|GBM - Glioblastoma multiforme(7;0.000443)|OV - Ovarian serous cystadenocarcinoma(106;0.0101)			CAGGTTCTCCGCCTTGTAATT	0.428																																						ENST00000366542.1																			1	Substitution - Missense(1)	p.R1403W(1)	large_intestine(1)	NS(1)|breast(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	62						c.(4207-4209)Cgg>Tgg		centrosomal protein 170kDa							43	42	42					1																	243303262		1831	4079	5910	SO:0001583	missense	9859					centriole|microtubule|spindle		g.chr1:243303262G>A	AB022657	CCDS44337.1, CCDS44338.1, CCDS44339.1	1q44	2014-02-20	2006-01-12	2006-01-12	ENSG00000143702	ENSG00000143702			28920	protein-coding gene	gene with protein product	"KARP 1 binding protein", "XRCC5 binding protein"	613023	"KIAA0470"	KIAA0470		15616186	Standard	NM_014812		Approved	KAB, FAM68A	uc021plo.1	Q5SW79	OTTHUMG00000039862	ENST00000366542.1:c.4207C>T	1.37:g.243303262G>A	ENSP00000355500:p.Arg1403Trp					CEP170_ENST00000481987.1_Missense_Mutation_p.R139W|CEP170_ENST00000366544.1_Missense_Mutation_p.R1305W|CEP170_ENST00000468254.1_5'UTR|RP11-261C10.5_ENST00000439562.1_RNA|CEP170_ENST00000490813.1_Missense_Mutation_p.R112W|CEP170_ENST00000366543.1_Missense_Mutation_p.R1279W	p.R1403W	NM_014812.2	NP_055627.2	Q5SW79	CE170_HUMAN	all cancers(7;5.81e-06)|GBM - Glioblastoma multiforme(7;0.000443)|OV - Ovarian serous cystadenocarcinoma(106;0.0101)		16	4258	-	all_neural(11;0.101)	all_cancers(173;0.003)	1403			Targeting to centrosomes.|Targeting to microtubules.		O75058|Q5SW77|Q5SW78|Q7LGA9|Q86W31|Q9UQ08|Q9UQ09	Missense_Mutation	SNP	ENST00000366542.1	37	c.4207C>T	CCDS44339.1	.	.	.	.	.	.	.	.	.	.	G	17.33	3.361382	0.61403	.	.	ENSG00000143702	ENST00000366542;ENST00000366544;ENST00000366543;ENST00000481987;ENST00000532008;ENST00000490813;ENST00000413359;ENST00000464936	T;T;T	0.51325	0.73;0.71;0.75	5.27	3.33	0.38152	.	0.000000	0.85682	D	0.000000	T	0.63319	0.2501	L	0.58101	1.795	0.51233	D	0.999914	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.85130	0.997;0.995;0.995;0.996	T	0.65319	-0.6197	10	0.87932	D	0	-9.9077	12.9602	0.58453	0.0:0.0:0.4435:0.5565	.	1376;1305;1279;1403	B1ARM6;Q5SW79-3;Q5SW79-2;Q5SW79	.;.;.;CE170_HUMAN	W	1403;1305;1279;139;338;112;195;112	ENSP00000355500:R1403W;ENSP00000355502:R1305W;ENSP00000355501:R1279W	ENSP00000355500:R1403W	R	-	1	2	CEP170	241369885	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	2.441000	0.44864	0.669000	0.31146	0.557000	0.71058	CGG		0.428	CEP170-003	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096178.2	NM_014812		11	23	0	0	0	1	0	11	23					A	243303262	G	A	243303262	3	1	435	1	0	0	0	0	1	0	0	0	3250	1086	38	1	567	1	CEP170	1	243303262	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	1143691	243303262	5947359	938	21863											
CEP170	9859	broad.mit.edu	37	chr1	243328145	243328145	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtttcttgatcagatgacatAatatcagagatggcagaatg	14	12	10	5	0	3	5	2	2	1	3	3	6	3	5	0	1	0	2	0	1	3	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:243328145A>G	ENST00000366542.1	-	13	3168	c.3117T>C	c.(3115-3117)atT>atC	p.I1039I	RP11-261C10.4_ENST00000422938.1_RNA|CEP170_ENST00000366543.1_Silent_p.I941I|CEP170_ENST00000490813.1_5'Flank|CEP170_ENST00000366544.1_Silent_p.I941I|RP11-261C10.4_ENST00000437499.1_RNA	NM_014812.2	NP_055627.2	Q5SW79	CE170_HUMAN	centrosomal protein 170kDa	1039	Targeting to microtubules.					centriole (GO:0005814)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|nuclear membrane (GO:0031965)				NS(1)|breast(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	62	all_neural(11;0.101)	all_cancers(173;0.003)	all cancers(7;5.81e-06)|GBM - Glioblastoma multiforme(7;0.000443)|OV - Ovarian serous cystadenocarcinoma(106;0.0101)			CAGATGACATAATATCAGAGA	0.418																																						ENST00000366542.1																			0				NS(1)|breast(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	62						c.(3115-3117)atT>atC		centrosomal protein 170kDa							46	45	45					1																	243328145		1816	4072	5888	SO:0001819	synonymous_variant	9859					centriole|microtubule|spindle		g.chr1:243328145A>G	AB022657	CCDS44337.1, CCDS44338.1, CCDS44339.1	1q44	2014-02-20	2006-01-12	2006-01-12	ENSG00000143702	ENSG00000143702			28920	protein-coding gene	gene with protein product	"KARP 1 binding protein", "XRCC5 binding protein"	613023	"KIAA0470"	KIAA0470		15616186	Standard	NM_014812		Approved	KAB, FAM68A	uc021plo.1	Q5SW79	OTTHUMG00000039862	ENST00000366542.1:c.3117T>C	1.37:g.243328145A>G						CEP170_ENST00000366544.1_Silent_p.I941I|RP11-261C10.4_ENST00000422938.1_RNA|RP11-261C10.4_ENST00000437499.1_RNA|CEP170_ENST00000366543.1_Silent_p.I941I	p.I1039I	NM_014812.2	NP_055627.2	Q5SW79	CE170_HUMAN	all cancers(7;5.81e-06)|GBM - Glioblastoma multiforme(7;0.000443)|OV - Ovarian serous cystadenocarcinoma(106;0.0101)		13	3168	-	all_neural(11;0.101)	all_cancers(173;0.003)	1039			Targeting to microtubules.		O75058|Q5SW77|Q5SW78|Q7LGA9|Q86W31|Q9UQ08|Q9UQ09	Silent	SNP	ENST00000366542.1	37	c.3117T>C	CCDS44339.1	.	.	.	.	.	.	.	.	.	.	A	6.026	0.373110	0.11409	.	.	ENSG00000143702	ENST00000336415	.	.	.	5.15	1.6	0.23607	.	.	.	.	.	T	0.55210	0.1906	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.45556	-0.9253	4	.	.	.	-8.5563	7.5999	0.28069	0.6567:0.0:0.3433:0.0	.	.	.	.	S	1003	.	.	L	-	2	0	CEP170	241394768	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	0.736000	0.26130	0.293000	0.22520	0.454000	0.30748	TTA		0.418	CEP170-003	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096178.2	NM_014812		14	34	0	0	0	1	0	14	34					G	243328145	A	G	243328145	2	3	435	1	0	0	0	0	0	0	0	1	3250	358	13	4		4	CEP170	1	243328145	Silent	SNP	A	TCGA-XK-AAIW-01A-11D-A41K-08	24883	243328145	5922476	939	21864											
CEP170	9859	broad.mit.edu	37	chr1	243329090	243329090	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttctcttttccaggagcagaGctgcctaagtgaagtagggt	9	12	12	8	0	1	2	0	1	1	1	3	3	2	3	2	2	3	3	2	2	3	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:243329090G>T	ENST00000366542.1	-	13	2223	c.2172C>A	c.(2170-2172)agC>agA	p.S724R	RP11-261C10.4_ENST00000422938.1_RNA|CEP170_ENST00000366543.1_Missense_Mutation_p.S626R|CEP170_ENST00000490813.1_5'Flank|CEP170_ENST00000366544.1_Missense_Mutation_p.S626R|RP11-261C10.4_ENST00000437499.1_RNA	NM_014812.2	NP_055627.2	Q5SW79	CE170_HUMAN	centrosomal protein 170kDa	724						centriole (GO:0005814)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|nuclear membrane (GO:0031965)				NS(1)|breast(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	62	all_neural(11;0.101)	all_cancers(173;0.003)	all cancers(7;5.81e-06)|GBM - Glioblastoma multiforme(7;0.000443)|OV - Ovarian serous cystadenocarcinoma(106;0.0101)			CAGGAGCAGAGCTGCCTAAGT	0.408																																						ENST00000366542.1																			0				NS(1)|breast(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	62						c.(2170-2172)agC>agA		centrosomal protein 170kDa							168	155	159					1																	243329090		1836	4088	5924	SO:0001583	missense	9859					centriole|microtubule|spindle		g.chr1:243329090G>T	AB022657	CCDS44337.1, CCDS44338.1, CCDS44339.1	1q44	2014-02-20	2006-01-12	2006-01-12	ENSG00000143702	ENSG00000143702			28920	protein-coding gene	gene with protein product	"KARP 1 binding protein", "XRCC5 binding protein"	613023	"KIAA0470"	KIAA0470		15616186	Standard	NM_014812		Approved	KAB, FAM68A	uc021plo.1	Q5SW79	OTTHUMG00000039862	ENST00000366542.1:c.2172C>A	1.37:g.243329090G>T	ENSP00000355500:p.Ser724Arg					CEP170_ENST00000366544.1_Missense_Mutation_p.S626R|RP11-261C10.4_ENST00000422938.1_RNA|RP11-261C10.4_ENST00000437499.1_RNA|CEP170_ENST00000366543.1_Missense_Mutation_p.S626R	p.S724R	NM_014812.2	NP_055627.2	Q5SW79	CE170_HUMAN	all cancers(7;5.81e-06)|GBM - Glioblastoma multiforme(7;0.000443)|OV - Ovarian serous cystadenocarcinoma(106;0.0101)		13	2223	-	all_neural(11;0.101)	all_cancers(173;0.003)	724					O75058|Q5SW77|Q5SW78|Q7LGA9|Q86W31|Q9UQ08|Q9UQ09	Missense_Mutation	SNP	ENST00000366542.1	37	c.2172C>A	CCDS44339.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	0.856|0.856	-0.736771|-0.736771	0.03111|0.03111	.|.	.|.	ENSG00000143702|ENSG00000143702	ENST00000336415|ENST00000366542;ENST00000366544;ENST00000366543	.|T;T;T	.|0.48201	.|0.84;0.82;0.88	5.13|5.13	3.23|3.23	0.37069|0.37069	.|.	.|1.296840	.|0.05482	.|N	.|0.554955	T|T	0.32971|0.32971	0.0847|0.0847	N|N	0.14661|0.14661	0.345|0.345	0.09310|0.09310	N|N	0.999999|0.999999	.|B;B;B;B	.|0.31383	.|0.321;0.096;0.045;0.034	.|B;B;B;B	.|0.31686	.|0.134;0.067;0.067;0.02	T|T	0.28964|0.28964	-1.0027|-1.0027	5|10	.|0.40728	.|T	.|0.16	4.1873|4.1873	7.9611|7.9611	0.30072|0.30072	0.1956:0.0:0.8044:0.0|0.1956:0.0:0.8044:0.0	.|.	.|687;626;626;724	.|B1ARM6;Q5SW79-3;Q5SW79-2;Q5SW79	.|.;.;.;CE170_HUMAN	D|R	688|724;626;626	.|ENSP00000355500:S724R;ENSP00000355502:S626R;ENSP00000355501:S626R	.|ENSP00000355500:S724R	A|S	-|-	2|3	0|2	CEP170|CEP170	241395713|241395713	0.009000|0.009000	0.17119|0.17119	0.002000|0.002000	0.10522|0.10522	0.429000|0.429000	0.31625|0.31625	1.224000|1.224000	0.32539|0.32539	1.152000|1.152000	0.42452|0.42452	0.484000|0.484000	0.47621|0.47621	GCT|AGC		0.408	CEP170-003	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096178.2	NM_014812		39	59	1	0	1.07637e-12	1	1.16607e-12	39	59					T	243329090	G	T	243329090	3	4	435	1	0	0	0	0	1	0	0	0	3250	962	34	5	2644	5	CEP170	1	243329090	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	945	243329090	5921531	940	21865											
CEP170	9859	broad.mit.edu	37	chr1	243354606	243354606	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtaaatgaagcatgccctgcAcctgttatatgggaacttgg	11	11	11	8	0	0	1	0	1	0	0	0	2	0	2	2	2	4	4	2	2	6	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:243354606A>G	ENST00000366542.1	-	8	873	c.822T>C	c.(820-822)ggT>ggC	p.G274G	CEP170_ENST00000366543.1_Silent_p.G274G|CEP170_ENST00000366544.1_Silent_p.G274G	NM_014812.2	NP_055627.2	Q5SW79	CE170_HUMAN	centrosomal protein 170kDa	274						centriole (GO:0005814)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|nuclear membrane (GO:0031965)				NS(1)|breast(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	62	all_neural(11;0.101)	all_cancers(173;0.003)	all cancers(7;5.81e-06)|GBM - Glioblastoma multiforme(7;0.000443)|OV - Ovarian serous cystadenocarcinoma(106;0.0101)			CATGCCCTGCACCTGTTATAT	0.408																																						ENST00000366542.1																			0				NS(1)|breast(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	62						c.(820-822)ggT>ggC		centrosomal protein 170kDa							81	72	75					1																	243354606		1854	4091	5945	SO:0001819	synonymous_variant	9859					centriole|microtubule|spindle		g.chr1:243354606A>G	AB022657	CCDS44337.1, CCDS44338.1, CCDS44339.1	1q44	2014-02-20	2006-01-12	2006-01-12	ENSG00000143702	ENSG00000143702			28920	protein-coding gene	gene with protein product	"KARP 1 binding protein", "XRCC5 binding protein"	613023	"KIAA0470"	KIAA0470		15616186	Standard	NM_014812		Approved	KAB, FAM68A	uc021plo.1	Q5SW79	OTTHUMG00000039862	ENST00000366542.1:c.822T>C	1.37:g.243354606A>G						CEP170_ENST00000366544.1_Silent_p.G274G|CEP170_ENST00000366543.1_Silent_p.G274G	p.G274G	NM_014812.2	NP_055627.2	Q5SW79	CE170_HUMAN	all cancers(7;5.81e-06)|GBM - Glioblastoma multiforme(7;0.000443)|OV - Ovarian serous cystadenocarcinoma(106;0.0101)		8	873	-	all_neural(11;0.101)	all_cancers(173;0.003)	274					O75058|Q5SW77|Q5SW78|Q7LGA9|Q86W31|Q9UQ08|Q9UQ09	Silent	SNP	ENST00000366542.1	37	c.822T>C	CCDS44339.1	.	.	.	.	.	.	.	.	.	.	A	8.171	0.791682	0.16258	.	.	ENSG00000143702	ENST00000336415	.	.	.	4.71	3.59	0.41128	.	.	.	.	.	T	0.53594	0.1806	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.50866	-0.8777	4	.	.	.	-16.593	5.6538	0.17631	0.699:0.1518:0.1493:0.0	.	.	.	.	A	176	.	.	V	-	2	0	CEP170	241421229	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.469000	0.35343	1.767000	0.52121	0.374000	0.22700	GTG		0.408	CEP170-003	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096178.2	NM_014812		7	14	0	0	0	1	0	7	14					G	243354606	A	G	243354606	2	3	435	1	0	0	0	0	0	0	0	1	3250	146	6	4		4	CEP170	1	243354606	Silent	SNP	A	TCGA-XK-AAIW-01A-11D-A41K-08	25516	243354606	5896015	941	21866											
ADSS	159	broad.mit.edu	37	chr1	244572920	244572920	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aatcatagattctctggattTaccaacaccaatccacttaa	15	12	3	11	0	2	1	1	0	1	1	4	2	3	2	3	1	2	0	3	1	6	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:244572920T>C	ENST00000366535.3	-	13	1655	c.1339A>G	c.(1339-1341)Aaa>Gaa	p.K447E	RP11-518L10.5_ENST00000417765.1_RNA	NM_001126.3	NP_001117.2			adenylosuccinate synthase											endometrium(2)|kidney(1)|large_intestine(3)|lung(1)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	12	all_cancers(71;2.17e-05)|all_epithelial(71;0.00015)|all_neural(11;0.0269)|Breast(184;0.0654)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0874)|Lung NSC(105;0.121)	all_cancers(173;0.0896)|all_epithelial(177;0.172)	all cancers(7;9.71e-08)|GBM - Glioblastoma multiforme(7;1.28e-05)|OV - Ovarian serous cystadenocarcinoma(106;0.0014)			TCTCTGGATTTACCAACACCA	0.358																																						ENST00000366535.3																			0				endometrium(2)|kidney(1)|large_intestine(3)|lung(1)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	12						c.(1339-1341)Aaa>Gaa		adenylosuccinate synthase	L-Aspartic Acid(DB00128)						87	85	86					1																	244572920		2203	4300	6503	SO:0001583	missense	159				AMP biosynthetic process|immune system process|purine base metabolic process	cytosol|plasma membrane	adenylosuccinate synthase activity|GTP binding|magnesium ion binding|phosphate binding	g.chr1:244572920T>C	BC012356	CCDS1624.1	1q44	2008-02-05			ENSG00000035687	ENSG00000035687	6.3.4.4		292	protein-coding gene	gene with protein product		103060				2004783, 1592113	Standard	NM_001126		Approved		uc001iaj.3	P30520	OTTHUMG00000040102	ENST00000366535.3:c.1339A>G	1.37:g.244572920T>C	ENSP00000355493:p.Lys447Glu						p.K447E	NM_001126.3	NP_001117.2	P30520	PURA2_HUMAN	all cancers(7;9.71e-08)|GBM - Glioblastoma multiforme(7;1.28e-05)|OV - Ovarian serous cystadenocarcinoma(106;0.0014)		13	1655	-	all_cancers(71;2.17e-05)|all_epithelial(71;0.00015)|all_neural(11;0.0269)|Breast(184;0.0654)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0874)|Lung NSC(105;0.121)	all_cancers(173;0.0896)|all_epithelial(177;0.172)	447						Missense_Mutation	SNP	ENST00000366535.3	37	c.1339A>G	CCDS1624.1	.	.	.	.	.	.	.	.	.	.	t	14.90	2.671983	0.47781	.	.	ENSG00000035687	ENST00000366535;ENST00000449326	T	0.41065	1.01	5.63	4.49	0.54785	.	0.083519	0.85682	D	0.000000	T	0.33731	0.0873	L	0.31420	0.93	0.80722	D	1	B	0.17465	0.022	B	0.23852	0.049	T	0.11941	-1.0567	10	0.87932	D	0	-24.2612	12.2215	0.54437	0.0:0.0:0.1424:0.8575	.	447	P30520	PURA2_HUMAN	E	447;426	ENSP00000355493:K447E	ENSP00000355493:K447E	K	-	1	0	ADSS	242639543	1.000000	0.71417	0.999000	0.59377	0.963000	0.63663	5.779000	0.68948	0.931000	0.37242	0.529000	0.55759	AAA		0.358	ADSS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096697.1	NM_001126		30	53	0	0	0	1	0	30	53					C	244572920	T	C	244572920	3	2	435	1	0	0	0	0	1	0	0	0	347	1763	61	4	35	4	ADSS	1	244572920	Missense_Mutation	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	1218314	244572920	4677701	942	21867											
ZNF669	79862	broad.mit.edu	37	chr1	247267486	247267486	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tccacttcgggaagccaggcGcagtccactcaccattcctc	8	8	8	17	2	1	0	1	0	0	0	6	1	4	1	5	2	1	1	5	2	1	2	rs148474673	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:247267486G>A	ENST00000343381.6	-	1	188	c.16C>T	c.(16-18)Cgc>Tgc	p.R6C	ZNF669_ENST00000358785.4_Missense_Mutation_p.R6C|ZNF669_ENST00000366500.1_Intron|ZNF669_ENST00000448299.2_Intron|ZNF669_ENST00000366501.1_Intron	NM_024804.2	NP_079080.2	Q96BR6	ZN669_HUMAN	zinc finger protein 669	6					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(3)|kidney(4)|large_intestine(2)|lung(6)	17	all_cancers(71;4.09e-05)|all_epithelial(71;6.72e-06)|Breast(184;0.0226)|Ovarian(71;0.0283)|all_lung(81;0.0488)|Lung NSC(105;0.053)		OV - Ovarian serous cystadenocarcinoma(106;0.00427)			GAAGCCAGGCGCAGTCCACTC	0.657																																						ENST00000343381.6																			0				breast(2)|endometrium(3)|kidney(4)|large_intestine(2)|lung(6)	17						c.(16-18)Cgc>Tgc		zinc finger protein 669							21	25	24					1																	247267486		2201	4299	6500	SO:0001583	missense	79862				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:247267486G>A		CCDS31088.1, CCDS44345.1	1q44	2013-01-08			ENSG00000188295	ENSG00000188295		"Zinc fingers, C2H2-type", "-"	25736	protein-coding gene	gene with protein product						12477932	Standard	NM_024804		Approved	FLJ12606	uc001ice.2	Q96BR6	OTTHUMG00000040869	ENST00000343381.6:c.16C>T	1.37:g.247267486G>A	ENSP00000342818:p.Arg6Cys					ZNF669_ENST00000448299.2_Intron|ZNF669_ENST00000366500.1_Intron|ZNF669_ENST00000358785.4_Missense_Mutation_p.R6C|ZNF669_ENST00000366501.1_Intron	p.R6C	NM_024804.2	NP_079080.2	Q96BR6	ZN669_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00427)		1	188	-	all_cancers(71;4.09e-05)|all_epithelial(71;6.72e-06)|Breast(184;0.0226)|Ovarian(71;0.0283)|all_lung(81;0.0488)|Lung NSC(105;0.053)		6					B3KP94|Q5VT39|Q9H9Q6	Missense_Mutation	SNP	ENST00000343381.6	37	c.16C>T	CCDS31088.1	.	.	.	.	.	.	.	.	.	.	G	13.76	2.331849	0.41297	.	.	ENSG00000188295	ENST00000358785;ENST00000343381;ENST00000476158	T;T;T	0.05855	4.75;3.38;4.72	0.968	0.968	0.19680	.	.	.	.	.	T	0.08758	0.0217	N	0.19112	0.55	0.09310	N	1	D	0.76494	0.999	P	0.60541	0.876	T	0.31861	-0.9928	9	0.49607	T	0.09	.	5.6231	0.17467	0.0:0.0:1.0:0.0	.	6	Q96BR6	ZN669_HUMAN	C	6	ENSP00000351636:R6C;ENSP00000342818:R6C;ENSP00000429550:R6C	ENSP00000342818:R6C	R	-	1	0	ZNF669	245334109	0.004000	0.15560	0.021000	0.16686	0.021000	0.10359	0.641000	0.24720	0.284000	0.22305	0.289000	0.19496	CGC		0.657	ZNF669-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000098394.4	NM_024804		5	17	0	0	0	1	0	5	17					A	247267486	G	A	247267486	3	1	435	1	0	0	0	0	1	0	0	0	18073	1087	38	1	1394	1	ZNF669	1	247267486	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	2694566	247267486	1983135	943	21868											
ZNF124	7678	broad.mit.edu	37	chr1	247320395	247320395	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acattgcttacattcatagcGtttttctccagtgtgaatcc	9	16	6	10	1	2	1	1	1	1	0	4	1	3	1	2	0	3	2	2	0	3	6	rs375447431		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:247320395G>A	ENST00000543802.2	-	4	618	c.529C>T	c.(529-531)Cgc>Tgc	p.R177C	ZNF124_ENST00000491356.1_Intron|ZNF124_ENST00000491848.1_5'UTR|ZNF124_ENST00000340684.6_Missense_Mutation_p.R115C|ZNF124_ENST00000472531.1_Intron			Q15973	ZN124_HUMAN	zinc finger protein 124	177					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			biliary_tract(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(3)|urinary_tract(2)	14	all_cancers(71;5.07e-05)|all_epithelial(71;8.72e-06)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0488)|Lung NSC(105;0.053)		OV - Ovarian serous cystadenocarcinoma(106;0.00739)			CATTCATAGCGTTTTTCTCCA	0.418													G|||	1	0.000199681	8e-04	0	5008	,	,		21098	0		0	False		,,,				2504	0					ENST00000340684.6																			0				biliary_tract(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(3)|urinary_tract(2)	14						c.(343-345)Cgc>Tgc		zinc finger protein 124		G	CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	73	66	68		343	-0.2	0.2	1		68	0,8600		0,0,4300	no	missense	ZNF124	NM_003431.2	180	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	115/290	247320395	1,13005	2203	4300	6503	SO:0001583	missense	7678				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:247320395G>A	S54641	CCDS31089.1, CCDS58067.1, CCDS73057.1	1q44	2013-01-08	2006-06-13		ENSG00000196418	ENSG00000196418		"Zinc fingers, C2H2-type", "-"	12907	protein-coding gene	gene with protein product		194631	"zinc finger protein 124 (HZF-16)"			7916577	Standard	XM_005273256		Approved	HZF16, HZF-16	uc001icj.1	Q15973	OTTHUMG00000041112	ENST00000543802.2:c.529C>T	1.37:g.247320395G>A	ENSP00000440365:p.Arg177Cys					ZNF124_ENST00000491356.1_Intron|ZNF124_ENST00000491848.1_5'UTR|ZNF124_ENST00000543802.2_Missense_Mutation_p.R177C|ZNF124_ENST00000472531.1_Intron	p.R115C	NM_003431.2	NP_003422.2	Q15973	ZN124_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00739)		4	481	-	all_cancers(71;5.07e-05)|all_epithelial(71;8.72e-06)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0488)|Lung NSC(105;0.053)		177					B3KNP3|J3KSE1|Q15974|Q4VAJ7|Q5T2V4	Missense_Mutation	SNP	ENST00000543802.2	37	c.343C>T		.	.	.	.	.	.	.	.	.	.	G	13.32	2.200933	0.38905	2.27E-4	0.0	ENSG00000196418	ENST00000366499;ENST00000340684;ENST00000543802;ENST00000540601	T	0.18960	2.18	0.864	-0.149	0.13420	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.14485	0.0350	L	0.42581	1.335	0.30924	N	0.727645	B;B	0.27625	0.006;0.183	B;B	0.04013	0.001;0.001	T	0.14531	-1.0469	9	0.87932	D	0	.	5.0145	0.14330	0.2461:0.0:0.7539:0.0	.	177;115	Q15973;Q15973-4	ZN124_HUMAN;.	C	138;115;121;121	ENSP00000340749:R115C	ENSP00000340749:R115C	R	-	1	0	ZNF124	245387018	0.039000	0.19947	0.189000	0.23252	0.512000	0.34134	1.566000	0.36396	-0.070000	0.12908	0.467000	0.42956	CGC		0.418	ZNF124-009	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000447393.1	NM_003431		13	36	0	0	0	1	0	13	36					A	247320395	G	A	247320395	3	1	435	1	0	0	0	0	1	0	0	0	17717	1145	40	1	530	1	ZNF124	1	247320395	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	52909	247320395	1930226	944	21869											
ZNF496	84838	broad.mit.edu	37	chr1	247464531	247464531	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagagaacgatctcgatggTcacttcttcatccaggctgt	9	11	11	10	2	4	1	2	0	2	1	6	5	5	2	1	3	1	1	1	3	1	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:247464531T>C	ENST00000294753.4	-	9	1518	c.1054A>G	c.(1054-1056)Acc>Gcc	p.T352A	ZNF496_ENST00000462139.1_5'UTR|ZNF496_ENST00000366498.2_Missense_Mutation_p.T388A	NM_032752.1	NP_116141.1	Q96IT1	ZN496_HUMAN	zinc finger protein 496	352					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	nuclear body (GO:0016604)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	36	all_cancers(71;0.000136)|all_epithelial(71;2.62e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0607)|Lung NSC(105;0.0661)		OV - Ovarian serous cystadenocarcinoma(106;0.00703)			ATCTCGATGGTCACTTCTTCA	0.612																																						ENST00000294753.4																			0				NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	36						c.(1054-1056)Acc>Gcc		zinc finger protein 496							71	79	76					1																	247464531		2168	4253	6421	SO:0001583	missense	84838				positive regulation of transcription, DNA-dependent|viral reproduction		DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr1:247464531T>C	BC007263	CCDS1631.1	1q44	2013-01-09			ENSG00000162714	ENSG00000162714		"Zinc fingers, C2H2-type", "-", "-", "-"	23713	protein-coding gene	gene with protein product		613911				12477932	Standard	NM_032752		Approved	ZKSCAN17, MGC15548, ZSCAN49	uc001ico.3	Q96IT1	OTTHUMG00000041164	ENST00000294753.4:c.1054A>G	1.37:g.247464531T>C	ENSP00000294753:p.Thr352Ala					ZNF496_ENST00000366498.2_Missense_Mutation_p.T388A|ZNF496_ENST00000462139.1_5'UTR	p.T352A	NM_032752.1	NP_116141.1	Q96IT1	ZN496_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00703)		9	1518	-	all_cancers(71;0.000136)|all_epithelial(71;2.62e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0607)|Lung NSC(105;0.0661)		352					Q8TBS2	Missense_Mutation	SNP	ENST00000294753.4	37	c.1054A>G	CCDS1631.1	.	.	.	.	.	.	.	.	.	.	T	2.447	-0.327238	0.05350	.	.	ENSG00000162714	ENST00000294753;ENST00000366498	T;T	0.06933	3.24;3.25	4.65	2.24	0.28232	.	0.390052	0.22132	N	0.064161	T	0.06005	0.0156	L	0.27053	0.805	0.25038	N	0.991227	P;B	0.40431	0.717;0.131	B;B	0.41271	0.352;0.04	T	0.35425	-0.9789	10	0.21540	T	0.41	-27.2918	7.1263	0.25473	0.5258:0.0:0.0:0.4742	.	388;352	Q96IT1-2;Q96IT1	.;ZN496_HUMAN	A	352;388	ENSP00000294753:T352A;ENSP00000355454:T388A	ENSP00000294753:T352A	T	-	1	0	ZNF496	245531154	0.911000	0.30947	1.000000	0.80357	0.285000	0.27093	0.900000	0.28431	0.342000	0.23796	-0.333000	0.08304	ACC		0.612	ZNF496-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098655.2	NM_032752		15	26	0	0	0	1	0	15	26					C	247464531	T	C	247464531	3	2	435	1	0	0	0	0	1	0	0	0	17942	1667	58	4	713	4	ZNF496	1	247464531	Missense_Mutation	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	144136	247464531	1786090	945	21870											
ZNF496	84838	broad.mit.edu	37	chr1	247492667	247492667	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cttggtgtgcctctcaggccGcagccagcccccgcacaggt	5	7	12	17	2	1	0	1	0	1	0	2	0	1	0	5	3	3	2	5	3	0	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:247492667G>A	ENST00000294753.4	-	3	678	c.214C>T	c.(214-216)Cgg>Tgg	p.R72W	ZNF496_ENST00000366498.2_Missense_Mutation_p.R72W	NM_032752.1	NP_116141.1	Q96IT1	ZN496_HUMAN	zinc finger protein 496	72	SCAN box. {ECO:0000255|PROSITE- ProRule:PRU00187}.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	nuclear body (GO:0016604)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	36	all_cancers(71;0.000136)|all_epithelial(71;2.62e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0607)|Lung NSC(105;0.0661)		OV - Ovarian serous cystadenocarcinoma(106;0.00703)			CTCTCAGGCCGCAGCCAGCCC	0.706																																						ENST00000294753.4																			0				NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	36						c.(214-216)Cgg>Tgg		zinc finger protein 496							20	24	23					1																	247492667		2203	4299	6502	SO:0001583	missense	84838				positive regulation of transcription, DNA-dependent|viral reproduction		DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr1:247492667G>A	BC007263	CCDS1631.1	1q44	2013-01-09			ENSG00000162714	ENSG00000162714		"Zinc fingers, C2H2-type", "-", "-", "-"	23713	protein-coding gene	gene with protein product		613911				12477932	Standard	NM_032752		Approved	ZKSCAN17, MGC15548, ZSCAN49	uc001ico.3	Q96IT1	OTTHUMG00000041164	ENST00000294753.4:c.214C>T	1.37:g.247492667G>A	ENSP00000294753:p.Arg72Trp					ZNF496_ENST00000366498.2_Missense_Mutation_p.R72W	p.R72W	NM_032752.1	NP_116141.1	Q96IT1	ZN496_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00703)		3	678	-	all_cancers(71;0.000136)|all_epithelial(71;2.62e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0607)|Lung NSC(105;0.0661)		72			SCAN box.		Q8TBS2	Missense_Mutation	SNP	ENST00000294753.4	37	c.214C>T	CCDS1631.1	.	.	.	.	.	.	.	.	.	.	G	17.63	3.436041	0.62955	.	.	ENSG00000162714	ENST00000294753;ENST00000366498	T;T	0.06608	3.28;3.28	4.27	0.902	0.19290	Retrovirus capsid, C-terminal (1);Transcription regulator SCAN (3);	0.000000	0.45867	D	0.000327	T	0.32315	0.0825	H	0.97365	3.99	0.27157	N	0.961267	D;D	0.89917	0.999;1.0	D;D	0.67231	0.928;0.95	T	0.27054	-1.0085	9	.	.	.	-29.6142	9.6773	0.40047	0.0:0.0:0.3892:0.6108	.	72;72	Q96IT1-2;Q96IT1	.;ZN496_HUMAN	W	72	ENSP00000294753:R72W;ENSP00000355454:R72W	.	R	-	1	2	ZNF496	245559290	0.858000	0.29795	0.689000	0.30133	0.986000	0.74619	-0.211000	0.09332	0.472000	0.27344	0.561000	0.74099	CGG		0.706	ZNF496-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098655.2	NM_032752		14	14	0	0	0	1	0	14	14					A	247492667	G	A	247492667	3	1	435	1	0	0	0	0	1	0	0	0	17942	1086	38	1	1577	1	ZNF496	1	247492667	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	28136	247492667	1757954	946	21871											
NLRP3	114548	broad.mit.edu	37	chr1	247582322	247582322	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccatggccgtgtggatcttcGctgcgatcaacaggagagac	9	8	13	11	3	2	1	1	0	1	1	3	5	2	3	2	3	2	1	2	3	1	1	rs537715421	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:247582322G>A	ENST00000336119.3	+	1	972	c.226G>A	c.(226-228)Gct>Act	p.A76T	NLRP3_ENST00000391827.2_Missense_Mutation_p.A76T|NLRP3_ENST00000366496.2_Missense_Mutation_p.A76T|NLRP3_ENST00000366497.2_Missense_Mutation_p.A76T|NLRP3_ENST00000474792.1_3'UTR|NLRP3_ENST00000348069.2_Missense_Mutation_p.A76T|NLRP3_ENST00000391828.3_Missense_Mutation_p.A76T	NM_001127462.2|NM_001243133.1|NM_004895.4	NP_001120934.1|NP_001230062.1|NP_004886.3	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3	76	DAPIN. {ECO:0000255|PROSITE- ProRule:PRU00061}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|cellular response to lipopolysaccharide (GO:0071222)|defense response (GO:0006952)|defense response to virus (GO:0051607)|detection of biotic stimulus (GO:0009595)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-1 beta production (GO:0032611)|interleukin-1 secretion (GO:0050701)|interleukin-18 production (GO:0032621)|negative regulation of acute inflammatory response (GO:0002674)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 beta secretion (GO:0050713)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|NLRP3 inflammasome complex assembly (GO:0044546)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein oligomerization (GO:0051259)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|NLRP3 inflammasome complex (GO:0072559)	ATP binding (GO:0005524)|peptidoglycan binding (GO:0042834)			NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			GTGGATCTTCGCTGCGATCAA	0.507													G|||	2	0.000399361	0	0	5008	,	,		13507	0.002		0	False		,,,				2504	0					ENST00000366497.2																			0				NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142						c.(226-228)Gct>Act		NLR family, pyrin domain containing 3							72	65	68					1																	247582322		2203	4300	6503	SO:0001583	missense	114548				detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding	g.chr1:247582322G>A	AF054176	CCDS1632.1, CCDS1633.1, CCDS44346.1, CCDS44347.1	1q44	2014-09-17	2006-12-08	2006-12-08	ENSG00000162711	ENSG00000162711		"Nucleotide-binding domain and leucine rich repeat containing"	16400	protein-coding gene	gene with protein product	"Cryopyrin", "nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 3"	606416	"cold autoinflammatory syndrome 1"	C1orf7, CIAS1		10741953	Standard	NM_183395		Approved	AGTAVPRL, AII, AVP, FCAS, FCU, NALP3, PYPAF1, MWS, CLR1.1	uc001icr.3	Q96P20	OTTHUMG00000040647	ENST00000336119.3:c.226G>A	1.37:g.247582322G>A	ENSP00000337383:p.Ala76Thr					NLRP3_ENST00000391828.3_Missense_Mutation_p.A76T|NLRP3_ENST00000474792.1_3'UTR|NLRP3_ENST00000336119.3_Missense_Mutation_p.A76T|NLRP3_ENST00000348069.2_Missense_Mutation_p.A76T|NLRP3_ENST00000366496.2_Missense_Mutation_p.A76T|NLRP3_ENST00000391827.2_Missense_Mutation_p.A76T	p.A76T	NM_001127461.2	NP_001120933.1	Q96P20	NALP3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0141)		2	1006	+	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	76			DAPIN.		B2RC97|B7ZKS9|B7ZKT2|B7ZKT3|O75434|Q17RS2|Q59H68|Q5JQS8|Q5JQS9|Q6TG35|Q8TCW0|Q8TEU9|Q8WXH9	Missense_Mutation	SNP	ENST00000336119.3	37	c.226G>A	CCDS1632.1	.	.	.	.	.	.	.	.	.	.	G	10.42	1.344371	0.24339	.	.	ENSG00000162711	ENST00000391828;ENST00000366497;ENST00000336119;ENST00000348069;ENST00000366496;ENST00000391827	T;T;T;T;T;T	0.49139	0.79;0.79;0.79;0.79;0.79;0.79	4.49	1.26	0.21427	Pyrin (2);DEATH-like (2);	0.898686	0.09463	N	0.798719	T	0.30916	0.0780	L	0.43152	1.355	0.09310	N	1	P;B;B;B;B	0.35139	0.486;0.139;0.249;0.383;0.088	B;B;B;B;B	0.27076	0.076;0.021;0.018;0.011;0.021	T	0.18681	-1.0329	10	0.33940	T	0.23	.	2.1707	0.03848	0.1177:0.1932:0.4903:0.1988	.	76;76;76;76;76	B7ZKS9;Q96P20-4;Q96P20-2;Q96P20-5;Q96P20	.;.;.;.;NALP3_HUMAN	T	76	ENSP00000375704:A76T;ENSP00000355453:A76T;ENSP00000337383:A76T;ENSP00000294752:A76T;ENSP00000355452:A76T;ENSP00000375703:A76T	ENSP00000337383:A76T	A	+	1	0	NLRP3	245648945	0.001000	0.12720	0.010000	0.14722	0.848000	0.48234	0.365000	0.20348	0.158000	0.19367	0.561000	0.74099	GCT		0.507	NLRP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097740.1	NM_004895		8	15	0	0	0	1	0	8	15					A	247582322	G	A	247582322	3	1	435	1	0	0	0	0	1	0	0	0	10478	1087	38	1	228	1	NLRP3	1	247582322	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	89655	247582322	1668299	947	21872											
NLRP3	114548	broad.mit.edu	37	chr1	247587175	247587175	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtaagaagtacagaaagtacGtgagaagcagattccagtgc	16	7	12	6	1	0	4	0	1	0	4	1	5	1	4	1	0	4	4	1	0	6	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:247587175G>A	ENST00000336119.3	+	3	1176	c.430G>A	c.(430-432)Gtg>Atg	p.V144M	NLRP3_ENST00000391827.2_Missense_Mutation_p.V144M|NLRP3_ENST00000366496.2_Missense_Mutation_p.V144M|NLRP3_ENST00000366497.2_Missense_Mutation_p.V144M|NLRP3_ENST00000474792.1_3'UTR|NLRP3_ENST00000348069.2_Missense_Mutation_p.V144M|NLRP3_ENST00000391828.3_Missense_Mutation_p.V144M	NM_001127462.2|NM_001243133.1|NM_004895.4	NP_001120934.1|NP_001230062.1|NP_004886.3	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3	144					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|cellular response to lipopolysaccharide (GO:0071222)|defense response (GO:0006952)|defense response to virus (GO:0051607)|detection of biotic stimulus (GO:0009595)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-1 beta production (GO:0032611)|interleukin-1 secretion (GO:0050701)|interleukin-18 production (GO:0032621)|negative regulation of acute inflammatory response (GO:0002674)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 beta secretion (GO:0050713)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|NLRP3 inflammasome complex assembly (GO:0044546)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein oligomerization (GO:0051259)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|NLRP3 inflammasome complex (GO:0072559)	ATP binding (GO:0005524)|peptidoglycan binding (GO:0042834)			NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			CAGAAAGTACGTGAGAAGCAG	0.507																																						ENST00000366497.2																			0				NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142						c.(430-432)Gtg>Atg		NLR family, pyrin domain containing 3							91	72	78					1																	247587175		2203	4300	6503	SO:0001583	missense	114548				detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding	g.chr1:247587175G>A	AF054176	CCDS1632.1, CCDS1633.1, CCDS44346.1, CCDS44347.1	1q44	2014-09-17	2006-12-08	2006-12-08	ENSG00000162711	ENSG00000162711		"Nucleotide-binding domain and leucine rich repeat containing"	16400	protein-coding gene	gene with protein product	"Cryopyrin", "nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 3"	606416	"cold autoinflammatory syndrome 1"	C1orf7, CIAS1		10741953	Standard	NM_183395		Approved	AGTAVPRL, AII, AVP, FCAS, FCU, NALP3, PYPAF1, MWS, CLR1.1	uc001icr.3	Q96P20	OTTHUMG00000040647	ENST00000336119.3:c.430G>A	1.37:g.247587175G>A	ENSP00000337383:p.Val144Met					NLRP3_ENST00000391828.3_Missense_Mutation_p.V144M|NLRP3_ENST00000474792.1_3'UTR|NLRP3_ENST00000336119.3_Missense_Mutation_p.V144M|NLRP3_ENST00000348069.2_Missense_Mutation_p.V144M|NLRP3_ENST00000366496.2_Missense_Mutation_p.V144M|NLRP3_ENST00000391827.2_Missense_Mutation_p.V144M	p.V144M	NM_001127461.2	NP_001120933.1	Q96P20	NALP3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0141)		4	1210	+	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	144					B2RC97|B7ZKS9|B7ZKT2|B7ZKT3|O75434|Q17RS2|Q59H68|Q5JQS8|Q5JQS9|Q6TG35|Q8TCW0|Q8TEU9|Q8WXH9	Missense_Mutation	SNP	ENST00000336119.3	37	c.430G>A	CCDS1632.1	.	.	.	.	.	.	.	.	.	.	G	6.914	0.538263	0.13188	.	.	ENSG00000162711	ENST00000391828;ENST00000366497;ENST00000336119;ENST00000348069;ENST00000366496;ENST00000391827	D;D;D;D;D;D	0.87887	-2.31;-2.31;-2.31;-2.31;-2.31;-2.31	4.27	1.42	0.22433	.	0.548784	0.15781	N	0.244915	D	0.89382	0.6699	M	0.70595	2.14	0.09310	N	1	D;P;D;D;P	0.89917	0.999;0.881;1.0;0.998;0.915	P;B;D;D;P	0.87578	0.774;0.357;0.998;0.921;0.475	T	0.78196	-0.2298	10	0.08837	T	0.75	.	6.1282	0.20192	0.3155:0.0:0.6845:0.0	.	144;144;144;144;144	B7ZKS9;Q96P20-4;Q96P20-2;Q96P20-5;Q96P20	.;.;.;.;NALP3_HUMAN	M	144	ENSP00000375704:V144M;ENSP00000355453:V144M;ENSP00000337383:V144M;ENSP00000294752:V144M;ENSP00000355452:V144M;ENSP00000375703:V144M	ENSP00000337383:V144M	V	+	1	0	NLRP3	245653798	0.007000	0.16637	0.002000	0.10522	0.069000	0.16628	0.112000	0.15479	0.348000	0.23949	-0.150000	0.13652	GTG		0.507	NLRP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097740.1	NM_004895		4	20	0	0	0	1	0	4	20					A	247587175	G	A	247587175	3	1	435	1	0	0	0	0	1	0	0	0	10478	1145	40	1	440	1	NLRP3	1	247587175	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	4853	247587175	1663446	948	21873											
NLRP3	114548	broad.mit.edu	37	chr1	247587868	247587868	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tggagatcctgggtttctccGaggccaaaaggaaagagtac	12	8	13	8	1	1	2	0	0	1	2	3	5	2	3	3	4	1	2	3	4	4	2	rs61841179		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:247587868G>A	ENST00000336119.3	+	3	1869	c.1123G>A	c.(1123-1125)Gag>Aag	p.E375K	NLRP3_ENST00000391827.2_Missense_Mutation_p.E375K|NLRP3_ENST00000366496.2_Missense_Mutation_p.E375K|NLRP3_ENST00000366497.2_Missense_Mutation_p.E375K|NLRP3_ENST00000474792.1_3'UTR|NLRP3_ENST00000348069.2_Missense_Mutation_p.E375K|NLRP3_ENST00000391828.3_Missense_Mutation_p.E375K	NM_001127462.2|NM_001243133.1|NM_004895.4	NP_001120934.1|NP_001230062.1|NP_004886.3	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3	375	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|cellular response to lipopolysaccharide (GO:0071222)|defense response (GO:0006952)|defense response to virus (GO:0051607)|detection of biotic stimulus (GO:0009595)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-1 beta production (GO:0032611)|interleukin-1 secretion (GO:0050701)|interleukin-18 production (GO:0032621)|negative regulation of acute inflammatory response (GO:0002674)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 beta secretion (GO:0050713)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|NLRP3 inflammasome complex assembly (GO:0044546)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein oligomerization (GO:0051259)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|NLRP3 inflammasome complex (GO:0072559)	ATP binding (GO:0005524)|peptidoglycan binding (GO:0042834)			NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			GGGTTTCTCCGAGGCCAAAAG	0.552																																						ENST00000366497.2																			0				NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142						c.(1123-1125)Gag>Aag		NLR family, pyrin domain containing 3							62	62	62					1																	247587868		2203	4300	6503	SO:0001583	missense	114548				detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding	g.chr1:247587868G>A	AF054176	CCDS1632.1, CCDS1633.1, CCDS44346.1, CCDS44347.1	1q44	2014-09-17	2006-12-08	2006-12-08	ENSG00000162711	ENSG00000162711		"Nucleotide-binding domain and leucine rich repeat containing"	16400	protein-coding gene	gene with protein product	"Cryopyrin", "nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 3"	606416	"cold autoinflammatory syndrome 1"	C1orf7, CIAS1		10741953	Standard	NM_183395		Approved	AGTAVPRL, AII, AVP, FCAS, FCU, NALP3, PYPAF1, MWS, CLR1.1	uc001icr.3	Q96P20	OTTHUMG00000040647	ENST00000336119.3:c.1123G>A	1.37:g.247587868G>A	ENSP00000337383:p.Glu375Lys					NLRP3_ENST00000391828.3_Missense_Mutation_p.E375K|NLRP3_ENST00000474792.1_3'UTR|NLRP3_ENST00000336119.3_Missense_Mutation_p.E375K|NLRP3_ENST00000348069.2_Missense_Mutation_p.E375K|NLRP3_ENST00000366496.2_Missense_Mutation_p.E375K|NLRP3_ENST00000391827.2_Missense_Mutation_p.E375K	p.E375K	NM_001127461.2	NP_001120933.1	Q96P20	NALP3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0141)		4	1903	+	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	375			NACHT.		B2RC97|B7ZKS9|B7ZKT2|B7ZKT3|O75434|Q17RS2|Q59H68|Q5JQS8|Q5JQS9|Q6TG35|Q8TCW0|Q8TEU9|Q8WXH9	Missense_Mutation	SNP	ENST00000336119.3	37	c.1123G>A	CCDS1632.1	.	.	.	.	.	.	.	.	.	.	G	15.20	2.762499	0.49574	.	.	ENSG00000162711	ENST00000391828;ENST00000366497;ENST00000336119;ENST00000348069;ENST00000366496;ENST00000391827	T;T;T;T;T;T	0.79554	-1.28;-1.28;-1.28;-1.28;-1.28;-1.28	3.84	3.84	0.44239	NACHT nucleoside triphosphatase (1);	0.000000	0.52532	D	0.000070	D	0.87374	0.6161	M	0.75150	2.29	0.36523	D	0.870285	D;D;D;D;P	0.89917	0.981;0.997;1.0;0.972;0.951	P;D;D;P;P	0.70227	0.824;0.915;0.968;0.782;0.752	D	0.89673	0.3885	10	0.54805	T	0.06	.	11.5521	0.50726	0.0:0.0:1.0:0.0	rs61841179	375;375;375;375;375	B7ZKS9;Q96P20-4;Q96P20-2;Q96P20-5;Q96P20	.;.;.;.;NALP3_HUMAN	K	375	ENSP00000375704:E375K;ENSP00000355453:E375K;ENSP00000337383:E375K;ENSP00000294752:E375K;ENSP00000355452:E375K;ENSP00000375703:E375K	ENSP00000337383:E375K	E	+	1	0	NLRP3	245654491	0.896000	0.30565	0.329000	0.25429	0.296000	0.27459	2.102000	0.41796	2.436000	0.82500	0.563000	0.77884	GAG		0.552	NLRP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097740.1	NM_004895		17	45	0	0	0	1	0	17	45					A	247587868	G	A	247587868	3	1	435	1	0	0	0	0	1	0	0	0	10478	1059	37	2	1133	2	NLRP3	1	247587868	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	693	247587868	1662753	949	21874											
OR2B11	127623	broad.mit.edu	37	chr1	247614342	247614342	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgtcctcatcatccacagaGcctccagatcctggccagaa	11	8	7	15	0	2	3	2	0	0	3	6	3	6	3	6	1	1	0	6	1	1	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:247614342G>A	ENST00000318749.6	-	1	966	c.943C>T	c.(943-945)Ctc>Ttc	p.L315F		NM_001004492.1	NP_001004492.1	Q5JQS5	OR2BB_HUMAN	olfactory receptor, family 2, subfamily B, member 11	315						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|kidney(13)|large_intestine(7)|lung(31)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	60	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.241)	OV - Ovarian serous cystadenocarcinoma(106;0.0188)			CATCCACAGAGCCTCCAGATC	0.453																																						ENST00000318749.6																			0				endometrium(3)|kidney(13)|large_intestine(7)|lung(31)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	60						c.(943-945)Ctc>Ttc		olfactory receptor, family 2, subfamily B, member 11							193	203	200					1																	247614342		2203	4300	6503	SO:0001583	missense	127623				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:247614342G>A		CCDS31090.1	1q44	2012-08-09			ENSG00000177535	ENSG00000177535		"GPCR / Class A : Olfactory receptors"	31249	protein-coding gene	gene with protein product							Standard	NM_001004492		Approved		uc010pyx.2	Q5JQS5	OTTHUMG00000040572	ENST00000318749.6:c.943C>T	1.37:g.247614342G>A	ENSP00000325682:p.Leu315Phe						p.L315F	NM_001004492.1	NP_001004492.1	Q5JQS5	OR2BB_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0188)		1	966	-	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.241)	315					B2RP03	Missense_Mutation	SNP	ENST00000318749.6	37	c.943C>T	CCDS31090.1	.	.	.	.	.	.	.	.	.	.	G	14.15	2.448697	0.43531	.	.	ENSG00000177535	ENST00000318749	T	0.00006	9.74	4.85	-0.825	0.10809	.	1.382030	0.05143	N	0.494670	T	0.00039	0.0001	N	0.14661	0.345	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.04229	-1.0967	10	0.24483	T	0.36	.	0.4766	0.00541	0.262:0.1308:0.3153:0.2918	.	315	Q5JQS5	OR2BB_HUMAN	F	315	ENSP00000325682:L315F	ENSP00000325682:L315F	L	-	1	0	OR2B11	245680965	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	0.103000	0.15292	-0.179000	0.10654	0.643000	0.83706	CTC		0.453	OR2B11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097620.1	NM_001004492		98	137	0	0	0	1	0	98	137					A	247614342	G	A	247614342	3	1	435	1	0	0	0	0	1	0	0	0	10988	971	34	3	13	3	OR2B11	1	247614342	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	26474	247614342	1636279	950	21875											
OR2W5	441932	broad.mit.edu	37	chr1	247654839	247654839	+	RNA	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcactacatggcagtcatgcGcccacatctctgcctgcagc	8	8	9	16	1	2	0	1	0	1	0	3	0	2	0	2	1	5	3	2	1	1	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:247654839G>A	ENST00000522351.1	+	0	470							A6NFC9	OR2W5_HUMAN	olfactory receptor, family 2, subfamily W, member 5							integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(24)|ovary(1)|skin(4)	39	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.222)	OV - Ovarian serous cystadenocarcinoma(106;0.0188)			GCAGTCATGCGCCCACATCTC	0.592																																						ENST00000522351.1																			0				breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(24)|ovary(1)|skin(4)	39															116	86	96					1																	247654839		2203	4300	6503			0				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:247654839G>A			1q44	2013-03-27		2004-03-10	ENSG00000203664	ENSG00000203664		"GPCR / Class A : Olfactory receptors"	15424	other	unknown				OR2W5P		12213199	Standard	NM_001004698		Approved	OST722	uc001icz.2	A6NFC9	OTTHUMG00000040573		1.37:g.247654839G>A										A6NFC9	OR2W5_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0188)		0	470	+	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.222)						B9EH85	RNA	SNP	ENST00000522351.1	37																																																																																						0.592	OR2W5-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000375789.1	NM_001004698		23	18	0	0	0	1	0	23	18					A	247654839	G	A	247654839	1	1	435	0	1	0	0	0	0	0	0	0	11034	1087	38	1		1	OR2W5	1	247654839	RNA	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	40497	247654839	1595782	951	21876											
OR2C3	81472	broad.mit.edu	37	chr1	247694914	247694914	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aataccatgtgccggagggcGctcttcacctccgtgttcct	6	11	10	14	3	2	0	1	0	1	0	4	1	4	1	5	2	2	2	5	2	2	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:247694914G>A	ENST00000366487.3	-	2	1261	c.900C>T	c.(898-900)agC>agT	p.S300S	GCSAML_ENST00000366489.1_Intron|GCSAML_ENST00000527541.1_Intron|GCSAML_ENST00000527084.1_Intron|GCSAML_ENST00000463359.1_Intron|GCSAML_ENST00000531662.1_Intron|GCSAML_ENST00000366490.3_Intron|GCSAML_ENST00000366491.2_Intron	NM_198074.4	NP_932340	Q8N628	OR2C3_HUMAN	olfactory receptor, family 2, subfamily C, member 3	300						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(5)|large_intestine(2)|lung(31)|ovary(1)|prostate(1)|skin(2)	43	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0242)	OV - Ovarian serous cystadenocarcinoma(106;0.0241)			GCCGGAGGGCGCTCTTCACCT	0.522																																						ENST00000366487.3																			0				breast(1)|endometrium(5)|large_intestine(2)|lung(31)|ovary(1)|prostate(1)|skin(2)	43						c.(898-900)agC>agT		olfactory receptor, family 2, subfamily C, member 3							75	67	70					1																	247694914		2203	4300	6503	SO:0001819	synonymous_variant	81472				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:247694914G>A	BC030717	CCDS1634.2	1q44	2014-02-19	2002-02-28		ENSG00000196242	ENSG00000196242		"GPCR / Class A : Olfactory receptors"	15005	protein-coding gene	gene with protein product			"olfactory receptor, family 2, subfamily C, member 4"	OR2C4, OR2C5P			Standard	NM_198074		Approved	OST742	uc009xgy.3	Q8N628	OTTHUMG00000040579	ENST00000366487.3:c.900C>T	1.37:g.247694914G>A						GCSAML_ENST00000527084.1_Intron|GCSAML_ENST00000366490.3_Intron|GCSAML_ENST00000527541.1_Intron|GCSAML_ENST00000366491.2_Intron|GCSAML_ENST00000366489.1_Intron|GCSAML_ENST00000531662.1_Intron|GCSAML_ENST00000463359.1_Intron	p.S300S	NM_198074.4	NP_932340.3	Q8N628	OR2C3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0241)		2	1261	-	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0242)	300					Q5JQS4|Q6IEZ1|Q8NGW7	Silent	SNP	ENST00000366487.3	37	c.900C>T	CCDS1634.2																																																																																				0.522	OR2C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097626.2	NM_198074		17	32	0	0	0	1	0	17	32					A	247694914	G	A	247694914	2	1	435	1	0	0	0	0	0	0	0	1	10993	1078	38	1		1	OR2C3	1	247694914	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	40075	247694914	1555707	952	21877											
OR2G3	81469	broad.mit.edu	37	chr1	247769303	247769303	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgtagtcatcatgaacccacGgctttgccaacagctggcat	10	10	9	12	1	2	1	2	1	0	0	2	1	2	1	2	2	4	4	2	2	3	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:247769303G>A	ENST00000320002.2	+	1	448	c.416G>A	c.(415-417)cGg>cAg	p.R139Q	RP11-978I15.10_ENST00000446347.1_RNA|RNU6-691P_ENST00000516585.1_RNA|RP11-978I15.10_ENST00000435333.1_RNA	NM_001001914.1	NP_001001914.1	Q8NGZ4	OR2G3_HUMAN	olfactory receptor, family 2, subfamily G, member 3	139						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(31)|skin(5)	50	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			ATGAACCCACGGCTTTGCCAA	0.507																																						ENST00000320002.2																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(31)|skin(5)	50						c.(415-417)cGg>cAg		olfactory receptor, family 2, subfamily G, member 3							184	170	175					1																	247769303		2203	4300	6503	SO:0001583	missense	81469				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:247769303G>A	BK004417	CCDS31093.1	1q44	2012-08-09			ENSG00000177476	ENSG00000177476		"GPCR / Class A : Olfactory receptors"	15008	protein-coding gene	gene with protein product							Standard	NM_001001914		Approved		uc010pyz.2	Q8NGZ4	OTTHUMG00000040576	ENST00000320002.2:c.416G>A	1.37:g.247769303G>A	ENSP00000326301:p.Arg139Gln					RP11-978I15.10_ENST00000435333.1_RNA|RP11-978I15.10_ENST00000446347.1_RNA	p.R139Q	NM_001001914.1	NP_001001914.1	Q8NGZ4	OR2G3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.017)		1	448	+	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		139					B2RN64|Q5JQT1|Q6IF45	Missense_Mutation	SNP	ENST00000320002.2	37	c.416G>A	CCDS31093.1	.	.	.	.	.	.	.	.	.	.	G	1.686	-0.505332	0.04261	.	.	ENSG00000177476	ENST00000320002	T	0.41758	0.99	3.8	-0.606	0.11619	GPCR, rhodopsin-like superfamily (1);	0.485631	0.14416	N	0.320950	T	0.24084	0.0583	N	0.25332	0.735	0.09310	N	1	B	0.20550	0.046	B	0.15052	0.012	T	0.19549	-1.0302	10	0.21014	T	0.42	.	7.6171	0.28165	0.4294:0.0:0.5706:0.0	.	139	Q8NGZ4	OR2G3_HUMAN	Q	139	ENSP00000326301:R139Q	ENSP00000326301:R139Q	R	+	2	0	OR2G3	245835926	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-1.070000	0.03440	-0.211000	0.10124	-0.452000	0.05504	CGG		0.507	OR2G3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097624.1			49	69	0	0	0	1	0	49	69					A	247769303	G	A	247769303	3	1	435	1	0	0	0	0	1	0	0	0	10999	1116	39	2	418	2	OR2G3	1	247769303	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	74389	247769303	1481318	953	21878											
TRIM58	25893	broad.mit.edu	37	chr1	248039230	248039230	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aagctggatcccgccacggcGcacccgagtctgctcttgac	7	7	11	16	4	2	1	0	1	2	0	3	3	3	2	3	2	2	3	3	2	1	1	rs369174039		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:248039230G>A	ENST00000366481.3	+	6	948	c.900G>A	c.(898-900)gcG>gcA	p.A300A	OR2W3_ENST00000537741.1_5'UTR	NM_015431.3	NP_056246.3	Q8NG06	TRI58_HUMAN	tripartite motif containing 58	300	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.					intracellular (GO:0005622)	zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(39)|ovary(4)|pancreas(1)|skin(7)|stomach(1)	63	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0286)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)			CCGCCACGGCGCACCCGAGTC	0.547																																						ENST00000366481.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(39)|ovary(4)|pancreas(1)|skin(7)|stomach(1)	63						c.(898-900)gcG>gcA		tripartite motif containing 58		A		1,4405	2.1+/-5.4	0,1,2202	64	62	62		900	-7.9	0	1		62	0,8600		0,0,4300	no	coding-synonymous	TRIM58	NM_015431.3		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		300/487	248039230	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	25893					intracellular	zinc ion binding	g.chr1:248039230G>A	AF327057	CCDS1636.1	1q44	2013-01-09	2011-01-25		ENSG00000162722	ENSG00000162722		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	24150	protein-coding gene	gene with protein product			"tripartite motif-containing 58"				Standard	NM_015431		Approved	BIA2	uc001ido.3	Q8NG06	OTTHUMG00000040203	ENST00000366481.3:c.900G>A	1.37:g.248039230G>A						OR2W3_ENST00000537741.1_5'UTR	p.A300A	NM_015431.3	NP_056246.3	Q8NG06	TRI58_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0319)		6	948	+	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0286)	300			B30.2/SPRY.		Q6B0H9	Silent	SNP	ENST00000366481.3	37	c.900G>A	CCDS1636.1																																																																																				0.547	TRIM58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096860.1	NM_015431		8	15	0	0	0	1	0	8	15					A	248039230	G	A	248039230	2	1	435	1	0	0	0	0	0	0	0	1	16528	1074	38	1		1	TRIM58	1	248039230	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	269927	248039230	1211391	954	21879											
OR2AK2	391191	broad.mit.edu	37	chr1	248129537	248129537	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ttgtcacacctctactgaacCcatttatctacagcctgaga	11	12	5	13	0	3	2	1	2	2	1	3	3	3	2	3	0	4	0	3	0	4	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:248129537C>T	ENST00000366480.3	+	1	1003	c.904C>T	c.(904-906)Cca>Tca	p.P302S	OR2L13_ENST00000366478.2_Intron	NM_001004491.1	NP_001004491.1	Q8NG84	O2AK2_HUMAN	olfactory receptor, family 2, subfamily AK, member 2	302						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	36	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0152)			TCTACTGAACCCATTTATCTA	0.463																																					Melanoma(45;390 1181 23848 28461 41504)	ENST00000366480.3																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	36						c.(904-906)Cca>Tca		olfactory receptor, family 2, subfamily AK, member 2							117	105	109					1																	248129537		2203	4300	6503	SO:0001583	missense	391191				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248129537C>T	BK004457	CCDS31102.1	1q44	2012-08-09			ENSG00000187080	ENSG00000187080		"GPCR / Class A : Olfactory receptors"	19569	protein-coding gene	gene with protein product				OR2AK1P			Standard	NM_001004491		Approved		uc010pzd.2	Q8NG84	OTTHUMG00000040201	ENST00000366480.3:c.904C>T	1.37:g.248129537C>T	ENSP00000355436:p.Pro302Ser					OR2L13_ENST00000366478.2_Intron	p.P302S	NM_001004491.1	NP_001004491.1	Q8NG84	O2AK2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0152)		1	1003	+	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		302					B2RND1|Q6IF05	Missense_Mutation	SNP	ENST00000366480.3	37	c.904C>T	CCDS31102.1	.	.	.	.	.	.	.	.	.	.	.	16.50	3.140924	0.56936	.	.	ENSG00000187080	ENST00000366480	T	0.63417	-0.04	3.04	2.09	0.27110	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.74268	0.3694	M	0.62723	1.935	0.30889	N	0.730591	D	0.89917	1.0	D	0.91635	0.999	T	0.72789	-0.4187	9	0.87932	D	0	.	11.018	0.47701	0.1883:0.8117:0.0:0.0	.	302	Q8NG84	O2AK2_HUMAN	S	302	ENSP00000355436:P302S	ENSP00000355436:P302S	P	+	1	0	OR2AK2	246196160	1.000000	0.71417	0.016000	0.15963	0.026000	0.11368	4.911000	0.63328	0.565000	0.29255	0.462000	0.41574	CCA		0.463	OR2AK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096858.2	NM_001004491		6	59	0	0	0	1	0	6	59					T	248129537	C	T	248129537	3	4	435	1	0	0	0	0	1	0	0	0	10986	623	22	3	906	3	OR2AK2	1	248129537	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	90307	248129537	1121084	955	21880											
OR2L13	284521	broad.mit.edu	37	chr1	248262906	248262906	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgatgtacatctccaccaccGtccccaagatggcgtacaac	11	8	7	15	2	1	2	0	1	1	1	3	2	2	2	5	1	3	2	5	1	4	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:248262906G>A	ENST00000358120.2	+	2	374	c.229G>A	c.(229-231)Gtc>Atc	p.V77I	OR2L13_ENST00000366478.2_Missense_Mutation_p.V77I			Q8N349	OR2LD_HUMAN	olfactory receptor, family 2, subfamily L, member 13	77						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V77I(2)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(32)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	59	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0132)			CTCCACCACCGTCCCCAAGAT	0.532																																						ENST00000366478.2																			2	Substitution - Missense(2)	p.V77I(2)	large_intestine(2)	NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(32)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	59						c.(229-231)Gtc>Atc		olfactory receptor, family 2, subfamily L, member 13							231	205	214					1																	248262906		2203	4300	6503	SO:0001583	missense	284521				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity|protein binding	g.chr1:248262906G>A	BC028158	CCDS1637.1	1q44	2012-08-09			ENSG00000196071	ENSG00000196071		"GPCR / Class A : Olfactory receptors"	19578	protein-coding gene	gene with protein product				OR2L14			Standard	NM_175911		Approved		uc001ids.3	Q8N349	OTTHUMG00000040446	ENST00000358120.2:c.229G>A	1.37:g.248262906G>A	ENSP00000350836:p.Val77Ile					OR2L13_ENST00000358120.2_Missense_Mutation_p.V77I	p.V77I	NM_175911.2	NP_787107.1	Q8N349	OR2LD_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0132)		3	566	+	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		77					Q5VUR5	Missense_Mutation	SNP	ENST00000358120.2	37	c.229G>A	CCDS1637.1	.	.	.	.	.	.	.	.	.	.	G	7.337	0.620154	0.14193	.	.	ENSG00000196071	ENST00000366478;ENST00000358120	T;T	0.02787	4.16;4.16	4.07	1.04	0.20106	GPCR, rhodopsin-like superfamily (1);	0.000000	0.39407	N	0.001373	T	0.06416	0.0165	L	0.46947	1.48	0.09310	N	1	D	0.76494	0.999	D	0.75020	0.985	T	0.31916	-0.9926	10	0.56958	D	0.05	.	1.0854	0.01651	0.3866:0.1477:0.3147:0.1511	.	77	Q8N349	OR2LD_HUMAN	I	77	ENSP00000355434:V77I;ENSP00000350836:V77I	ENSP00000350836:V77I	V	+	1	0	OR2L13	246329529	0.000000	0.05858	0.053000	0.19242	0.422000	0.31414	-4.011000	0.00314	0.027000	0.15297	-0.157000	0.13467	GTC		0.532	OR2L13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097342.1	NM_175911		36	65	0	0	0	1	0	36	65					A	248262906	G	A	248262906	3	1	435	1	0	0	0	0	1	0	0	0	11006	1145	40	1	231	1	OR2L13	1	248262906	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	133369	248262906	987715	956	21881											
OR2L13	284521	broad.mit.edu	37	chr1	248263256	248263256	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcctgtacagatacttgggtCtatgaatatatggtttttgt	9	17	10	5	0	1	2	0	1	1	1	1	2	1	2	1	2	2	2	1	2	6	8			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:248263256C>T	ENST00000358120.2	+	2	724	c.579C>T	c.(577-579)gtC>gtT	p.V193V	OR2L13_ENST00000366478.2_Silent_p.V193V			Q8N349	OR2LD_HUMAN	olfactory receptor, family 2, subfamily L, member 13	193						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(32)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	59	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0132)			ATACTTGGGTCTATGAATATA	0.438																																						ENST00000366478.2																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(32)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	59						c.(577-579)gtC>gtT		olfactory receptor, family 2, subfamily L, member 13							239	221	227					1																	248263256		2203	4300	6503	SO:0001819	synonymous_variant	284521				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity|protein binding	g.chr1:248263256C>T	BC028158	CCDS1637.1	1q44	2012-08-09			ENSG00000196071	ENSG00000196071		"GPCR / Class A : Olfactory receptors"	19578	protein-coding gene	gene with protein product				OR2L14			Standard	NM_175911		Approved		uc001ids.3	Q8N349	OTTHUMG00000040446	ENST00000358120.2:c.579C>T	1.37:g.248263256C>T						OR2L13_ENST00000358120.2_Silent_p.V193V	p.V193V	NM_175911.2	NP_787107.1	Q8N349	OR2LD_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0132)		3	916	+	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		193					Q5VUR5	Silent	SNP	ENST00000358120.2	37	c.579C>T	CCDS1637.1																																																																																				0.438	OR2L13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097342.1	NM_175911		55	66	0	0	0	1	0	55	66					T	248263256	C	T	248263256	2	4	435	1	0	0	0	0	0	0	0	1	11006	900	32	3		3	OR2L13	1	248263256	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	350	248263256	987365	957	21882											
OR2T12	127064	broad.mit.edu	37	chr1	248458151	248458151	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ataaaagagtcccaccacagCcacatgtgaagagcaggtgg	15	5	11	10	0	0	3	0	1	0	2	1	3	1	3	3	2	2	1	3	2	3	1	rs369908991		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:248458151C>G	ENST00000317996.1	-	1	729	c.730G>C	c.(730-732)Gct>Cct	p.A244P		NM_001004692.1	NP_001004692.1	Q8NG77	O2T12_HUMAN	olfactory receptor, family 2, subfamily T, member 12	244						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(4)|kidney(3)|large_intestine(3)|lung(25)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	43	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0201)			CCCACCACAGCCACATGTGAA	0.512																																						ENST00000317996.1																			0				endometrium(4)|kidney(3)|large_intestine(3)|lung(25)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	43						c.(730-732)Gct>Cct		olfactory receptor, family 2, subfamily T, member 12							78	78	78					1																	248458151		2203	4297	6500	SO:0001583	missense	127064				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248458151C>G	BK004485	CCDS31110.1	1q44	2012-08-09			ENSG00000177201	ENSG00000177201		"GPCR / Class A : Olfactory receptors"	19592	protein-coding gene	gene with protein product							Standard	NM_001004692		Approved		uc010pzj.2	Q8NG77	OTTHUMG00000040457	ENST00000317996.1:c.730G>C	1.37:g.248458151C>G	ENSP00000324583:p.Ala244Pro						p.A244P	NM_001004692.1	NP_001004692.1	Q8NG77	O2T12_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0201)		1	729	-	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		244						Missense_Mutation	SNP	ENST00000317996.1	37	c.730G>C	CCDS31110.1	.	.	.	.	.	.	.	.	.	.	c	15.62	2.887202	0.52014	.	.	ENSG00000177201	ENST00000317996	T	0.38887	1.11	1.55	-1.22	0.09494	GPCR, rhodopsin-like superfamily (1);	0.744958	0.10900	U	0.621742	T	0.57489	0.2057	M	0.83774	2.66	0.09310	N	1	D	0.61697	0.99	D	0.67725	0.953	T	0.46992	-0.9151	10	0.87932	D	0	.	3.4517	0.07501	0.0:0.3847:0.2115:0.4038	.	244	Q8NG77	O2T12_HUMAN	P	244	ENSP00000324583:A244P	ENSP00000324583:A244P	A	-	1	0	OR2T12	246524774	0.000000	0.05858	0.246000	0.24233	0.701000	0.40568	-1.292000	0.02772	0.645000	0.30675	0.175000	0.17021	GCT		0.512	OR2T12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097353.1	NM_001004692		12	55	0	0	0	1	0	12	55					G	248458151	C	G	248458151	3	3	435	1	0	0	0	0	1	0	0	0	11019	739	26	5	235	5	OR2T12	1	248458151	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	194895	248458151	792470	958	21883											
OR2T12	127064	broad.mit.edu	37	chr1	248458392	248458392	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgtgcaccgcaatatgggaaGctcagggtagcaacagcctg	11	7	13	10	1	1	0	1	0	0	0	1	1	1	1	2	2	5	5	2	2	5	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:248458392G>A	ENST00000317996.1	-	1	488	c.489C>T	c.(487-489)agC>agT	p.S163S		NM_001004692.1	NP_001004692.1	Q8NG77	O2T12_HUMAN	olfactory receptor, family 2, subfamily T, member 12	163						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(4)|kidney(3)|large_intestine(3)|lung(25)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	43	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0201)			AATATGGGAAGCTCAGGGTAG	0.582																																						ENST00000317996.1																			0				endometrium(4)|kidney(3)|large_intestine(3)|lung(25)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	43						c.(487-489)agC>agT		olfactory receptor, family 2, subfamily T, member 12							82	82	82					1																	248458392		2198	4298	6496	SO:0001819	synonymous_variant	127064				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248458392G>A	BK004485	CCDS31110.1	1q44	2012-08-09			ENSG00000177201	ENSG00000177201		"GPCR / Class A : Olfactory receptors"	19592	protein-coding gene	gene with protein product							Standard	NM_001004692		Approved		uc010pzj.2	Q8NG77	OTTHUMG00000040457	ENST00000317996.1:c.489C>T	1.37:g.248458392G>A							p.S163S	NM_001004692.1	NP_001004692.1	Q8NG77	O2T12_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0201)		1	488	-	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		163						Silent	SNP	ENST00000317996.1	37	c.489C>T	CCDS31110.1																																																																																				0.582	OR2T12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097353.1	NM_001004692		22	28	0	0	0	1	0	22	28					A	248458392	G	A	248458392	2	1	435	1	0	0	0	0	0	0	0	1	11019	962	34	3		3	OR2T12	1	248458392	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	241	248458392	792229	959	21884											
OR2T4	127074	broad.mit.edu	37	chr1	248525007	248525007	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggccaaccacactggatggtCggatttcatcctgttgggac	8	10	12	11	1	1	0	1	0	0	0	3	3	2	3	3	5	1	1	3	5	1	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:248525007C>T	ENST00000366475.1	+	1	125	c.125C>T	c.(124-126)tCg>tTg	p.S42L		NM_001004696.1	NP_001004696.1	Q8NH00	OR2T4_HUMAN	olfactory receptor, family 2, subfamily T, member 4	42						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(2)|lung(47)	56	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			ACTGGATGGTCGGATTTCATC	0.473																																						ENST00000366475.1																			0				central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(2)|lung(47)	56						c.(124-126)tCg>tTg		olfactory receptor, family 2, subfamily T, member 4							135	118	124					1																	248525007		2203	4296	6499	SO:0001583	missense	127074				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248525007C>T	BK004464	CCDS31113.1	1q44	2012-08-09			ENSG00000196944	ENSG00000196944		"GPCR / Class A : Olfactory receptors"	15016	protein-coding gene	gene with protein product							Standard	NM_001004696		Approved	OR2T4Q	uc001ieh.1	Q8NH00	OTTHUMG00000040453	ENST00000366475.1:c.125C>T	1.37:g.248525007C>T	ENSP00000355431:p.Ser42Leu						p.S42L	NM_001004696.1	NP_001004696.1	Q8NH00	OR2T4_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	125	+	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		42					Q6IEZ8	Missense_Mutation	SNP	ENST00000366475.1	37	c.125C>T	CCDS31113.1	.	.	.	.	.	.	.	.	.	.	C	7.551	0.662759	0.14645	.	.	ENSG00000196944	ENST00000366475	T	0.00458	7.28	1.89	0.788	0.18601	.	1.641650	0.04124	N	0.316887	T	0.00356	0.0011	L	0.31845	0.965	0.09310	N	1	B	0.12630	0.006	B	0.09377	0.004	T	0.47114	-0.9142	10	0.54805	T	0.06	.	3.2704	0.06879	0.2536:0.5829:0.0:0.1634	.	42	Q8NH00	OR2T4_HUMAN	L	42	ENSP00000355431:S42L	ENSP00000355431:S42L	S	+	2	0	OR2T4	246591630	0.799000	0.28903	0.048000	0.18961	0.023000	0.10783	2.211000	0.42825	-0.196000	0.10366	0.306000	0.20318	TCG		0.473	OR2T4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097349.2	NM_001004696		38	12	0	0	0	1	0	38	12					T	248525007	C	T	248525007	3	4	435	1	0	0	0	0	1	0	0	0	11027	893	31	2	127	2	OR2T4	1	248525007	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	66615	248525007	725614	960	21885											
OR2T29	343563	broad.mit.edu	37	chr1	248722771	248722771	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	caaccttccagtgtggttggCcatcctggtgatgttggcca	6	12	12	11	0	0	1	0	1	0	0	2	1	2	1	5	4	1	2	5	4	1	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:248722771C>T	ENST00000328570.3	-	1	26	c.22G>A	c.(22-24)Gcc>Acc	p.A8T	RP11-438F14.3_ENST00000438623.1_RNA	NM_001004694.2	NP_001004694.2	Q8NH02	O2T29_HUMAN	olfactory receptor, family 2, subfamily T, member 29	8						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|lung(4)	5	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GTGTGGTTGGCCATCCTGGTG	0.468																																						ENST00000328570.3																			0				NS(1)|lung(4)	5						c.(22-24)Gcc>Acc		olfactory receptor, family 2, subfamily T, member 29							91	73	79					1																	248722771		2203	4298	6501	SO:0001583	missense	343563				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248722771C>T		CCDS55695.1	1q44	2012-08-09			ENSG00000182783	ENSG00000182783		"GPCR / Class A : Olfactory receptors"	31253	protein-coding gene	gene with protein product							Standard	NM_001004694		Approved		uc001ieo.2	Q8NH02	OTTHUMG00000040382	ENST00000328570.3:c.22G>A	1.37:g.248722771C>T	ENSP00000331774:p.Ala8Thr					RP11-438F14.3_ENST00000438623.1_RNA	p.A8T	NM_001004694.2	NP_001004694.2	Q8NH02	O2T29_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	26	-	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		8						Missense_Mutation	SNP	ENST00000328570.3	37	c.22G>A	CCDS55695.1	.	.	.	.	.	.	.	.	.	.	c	5.423	0.263123	0.10294	.	.	ENSG00000182783	ENST00000328570	T	0.20200	2.09	2.34	-1.67	0.08238	.	1.741580	0.03350	N	0.196043	T	0.11750	0.0286	N	0.21583	0.68	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.16808	-1.0390	10	0.14656	T	0.56	.	2.4275	0.04463	0.4064:0.3196:0.0:0.274	.	8	Q8NH02	O2T29_HUMAN	T	8	ENSP00000331774:A8T	ENSP00000331774:A8T	A	-	1	0	OR2T29	246789394	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.853000	0.04303	-0.530000	0.06349	0.134000	0.15878	GCC		0.468	OR2T29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097132.1	NM_001004694		4	34	0	0	0	1	0	4	34					T	248722771	C	T	248722771	3	4	435	1	0	0	0	0	1	0	0	0	11022	739	26	3	929	3	OR2T29	1	248722771	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	197764	248722771	527850	961	21886											
ZNF672	79894	broad.mit.edu	37	chr1	249142234	249142234	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cacacacacgggcgagaagcCgtacgcatgtggcgactgtg	10	5	14	12	5	0	1	0	0	0	1	0	3	0	1	1	2	2	2	1	2	2	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:249142234C>T	ENST00000306562.3	+	4	1507	c.761C>T	c.(760-762)cCg>cTg	p.P254L		NM_024836.1	NP_079112.1	Q499Z4	ZN672_HUMAN	zinc finger protein 672	254					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(2)|kidney(2)|large_intestine(1)	5	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.19)	OV - Ovarian serous cystadenocarcinoma(106;0.00805)			GGCGAGAAGCCGTACGCATGT	0.677																																						ENST00000306562.3																			0				endometrium(2)|kidney(2)|large_intestine(1)	5						c.(760-762)cCg>cTg		zinc finger protein 672							8	8	8					1																	249142234		2172	4225	6397	SO:0001583	missense	79894				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:249142234C>T	AK027476	CCDS1638.1	1q44	2013-01-08			ENSG00000171161	ENSG00000171161		"Zinc fingers, C2H2-type"	26179	protein-coding gene	gene with protein product	"hypothetical protein FLJ22301"					12477932	Standard	NM_024836		Approved	FLJ22301	uc001iex.3	Q499Z4	OTTHUMG00000040377	ENST00000306562.3:c.761C>T	1.37:g.249142234C>T	ENSP00000421915:p.Pro254Leu						p.P254L	NM_024836.1	NP_079112.1	Q499Z4	ZN672_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00805)		4	1507	+	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.19)	254					Q96H65|Q96IM3|Q9H6G5	Missense_Mutation	SNP	ENST00000306562.3	37	c.761C>T	CCDS1638.1	.	.	.	.	.	.	.	.	.	.	C	17.23	3.337705	0.60963	.	.	ENSG00000171161	ENST00000306562	T	0.24350	1.86	3.77	3.77	0.43336	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.35903	U	0.002912	T	0.45276	0.1334	M	0.75150	2.29	0.51233	D	0.999914	D	0.89917	1.0	P	0.60012	0.867	T	0.46470	-0.9189	9	.	.	.	.	13.5045	0.61477	0.0:1.0:0.0:0.0	.	254	Q499Z4	ZN672_HUMAN	L	254	ENSP00000421915:P254L	.	P	+	2	0	ZNF672	247108857	0.986000	0.35501	0.843000	0.33291	0.333000	0.28666	4.326000	0.59241	2.113000	0.64589	0.655000	0.94253	CCG		0.677	ZNF672-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097125.2	NM_024836		4	3	0	0	0	1	0	4	3					T	249142234	C	T	249142234	3	4	435	1	0	0	0	0	1	0	0	0	18076	652	23	2	763	2	ZNF672	1	249142234	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	419463	249142234	108387	962	21887											
ZNF692	55657	broad.mit.edu	37	chr1	249144569	249144569	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gggctgggtgacttttgctaCggtgggctgcaacactgtct	5	12	15	9	1	1	1	0	1	1	0	1	1	1	1	0	4	4	4	0	4	2	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:249144569C>T	ENST00000306601.4	-	12	1566	c.1400G>A	c.(1399-1401)cGt>cAt	p.R467H	ZNF692_ENST00000366471.3_Missense_Mutation_p.R422H|ZNF692_ENST00000451251.1_Missense_Mutation_p.R472H|ZNF692_ENST00000366469.5_Missense_Mutation_p.R466H|ZNF692_ENST00000427146.1_Missense_Mutation_p.R422H	NM_017865.3	NP_060335.2	Q9BU19	ZN692_HUMAN	zinc finger protein 692	467					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|large_intestine(6)|lung(7)|stomach(1)	17	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.19)	OV - Ovarian serous cystadenocarcinoma(106;0.00805)			ACTTTTGCTACGGTGGGCTGC	0.617																																						ENST00000451251.1																			0				endometrium(3)|large_intestine(6)|lung(7)|stomach(1)	17						c.(1414-1416)cGt>cAt		zinc finger protein 692							113	117	115					1																	249144569		2203	4300	6503	SO:0001583	missense	55657				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:249144569C>T	BC002948	CCDS31127.1, CCDS44348.1, CCDS53487.1	1q44	2013-01-08			ENSG00000171163	ENSG00000171163		"Zinc fingers, C2H2-type"	26049	protein-coding gene	gene with protein product						12477932	Standard	NM_001136036		Approved	FLJ20531, Zfp692	uc001ifc.2	Q9BU19	OTTHUMG00000040423	ENST00000306601.4:c.1400G>A	1.37:g.249144569C>T	ENSP00000305483:p.Arg467His					ZNF692_ENST00000366469.5_Missense_Mutation_p.R466H|ZNF692_ENST00000427146.1_Missense_Mutation_p.R422H|ZNF692_ENST00000366471.3_Missense_Mutation_p.R422H|ZNF692_ENST00000306601.4_Missense_Mutation_p.R467H	p.R472H	NM_001136036.2	NP_001129508.1	Q9BU19	ZN692_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00805)		12	1760	-	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.19)	467					B4DXZ0|Q5SRA5|Q5SRA6|Q9HBC9|Q9NW93|Q9NWY6|Q9UF97	Missense_Mutation	SNP	ENST00000306601.4	37	c.1415G>A	CCDS31127.1	.	.	.	.	.	.	.	.	.	.	C	11.74	1.729017	0.30684	.	.	ENSG00000171163	ENST00000306601;ENST00000427146;ENST00000366470;ENST00000366471;ENST00000366469;ENST00000451251	T;T;T;T;T	0.52057	0.68;0.68;0.68;0.68;0.68	4.62	4.62	0.57501	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);	0.954634	0.08736	N	0.901268	T	0.39226	0.1070	N	0.14661	0.345	0.23260	N	0.998026	P;P;P;P;D	0.54047	0.768;0.928;0.928;0.768;0.964	B;P;P;B;B	0.49301	0.178;0.606;0.502;0.178;0.432	T	0.12889	-1.0530	10	0.39692	T	0.17	-1.0485	8.8465	0.35172	0.0:0.8996:0.0:0.1004	.	472;422;295;467;200	B4DXZ0;Q9BU19-2;Q9BU19-3;Q9BU19;Q59EV5	.;.;.;ZN692_HUMAN;.	H	467;422;295;422;466;472	ENSP00000305483:R467H;ENSP00000390044:R422H;ENSP00000355427:R422H;ENSP00000355425:R466H;ENSP00000391200:R472H	ENSP00000305483:R467H	R	-	2	0	ZNF692	247111192	0.176000	0.23096	0.215000	0.23724	0.024000	0.10985	1.576000	0.36504	2.560000	0.86352	0.655000	0.94253	CGT		0.617	ZNF692-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000097298.1	NM_017865		5	54	0	0	0	1	0	5	54					T	249144569	C	T	249144569	3	4	435	1	0	0	0	0	1	0	0	0	18094	536	19	1	163	1	ZNF692	1	249144569	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	2335	249144569	106052	963	21888											
ZNF692	55657	broad.mit.edu	37	chr1	249150039	249150039	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tgaggatgctgacaaggccgGcacagcaagaggactggaga	13	4	16	8	1	0	4	0	2	0	2	0	7	0	6	1	5	2	3	1	5	2	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:249150039G>A	ENST00000306601.4	-	7	932	c.766C>T	c.(766-768)Ccg>Tcg	p.P256S	ZNF692_ENST00000468455.1_5'UTR|ZNF692_ENST00000366471.3_Missense_Mutation_p.P211S|ZNF692_ENST00000451251.1_Missense_Mutation_p.P261S|ZNF692_ENST00000366469.5_Missense_Mutation_p.P255S|ZNF692_ENST00000427146.1_Missense_Mutation_p.P211S	NM_017865.3	NP_060335.2	Q9BU19	ZN692_HUMAN	zinc finger protein 692	256					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|large_intestine(6)|lung(7)|stomach(1)	17	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.19)	OV - Ovarian serous cystadenocarcinoma(106;0.00805)			GACAAGGCCGGCACAGCAAGA	0.622																																						ENST00000451251.1																			0				endometrium(3)|large_intestine(6)|lung(7)|stomach(1)	17						c.(781-783)Ccg>Tcg		zinc finger protein 692							71	73	72					1																	249150039		2203	4300	6503	SO:0001583	missense	55657				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:249150039G>A	BC002948	CCDS31127.1, CCDS44348.1, CCDS53487.1	1q44	2013-01-08			ENSG00000171163	ENSG00000171163		"Zinc fingers, C2H2-type"	26049	protein-coding gene	gene with protein product						12477932	Standard	NM_001136036		Approved	FLJ20531, Zfp692	uc001ifc.2	Q9BU19	OTTHUMG00000040423	ENST00000306601.4:c.766C>T	1.37:g.249150039G>A	ENSP00000305483:p.Pro256Ser					ZNF692_ENST00000366469.5_Missense_Mutation_p.P255S|ZNF692_ENST00000468455.1_5'UTR|ZNF692_ENST00000427146.1_Missense_Mutation_p.P211S|ZNF692_ENST00000366471.3_Missense_Mutation_p.P211S|ZNF692_ENST00000306601.4_Missense_Mutation_p.P256S	p.P261S	NM_001136036.2	NP_001129508.1	Q9BU19	ZN692_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00805)		7	1126	-	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.19)	256					B4DXZ0|Q5SRA5|Q5SRA6|Q9HBC9|Q9NW93|Q9NWY6|Q9UF97	Missense_Mutation	SNP	ENST00000306601.4	37	c.781C>T	CCDS31127.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	9.421|9.421	1.083128|1.083128	0.20309|0.20309	.|.	.|.	ENSG00000171163|ENSG00000171163	ENST00000476503|ENST00000306601;ENST00000427146;ENST00000366471;ENST00000366469;ENST00000451251	.|T;T;T;T;T	.|0.09538	.|2.99;3.14;3.14;2.98;2.97	4.24|4.24	3.24|3.24	0.37175|0.37175	.|.	.|0.588598	.|0.15103	.|N	.|0.280393	T|T	0.08223|0.08223	0.0205|0.0205	L|L	0.40543|0.40543	1.245|1.245	0.25231|0.25231	N|N	0.98983|0.98983	.|P;P;P	.|0.37330	.|0.455;0.59;0.455	.|B;B;B	.|0.34824	.|0.134;0.19;0.134	T|T	0.14755|0.14755	-1.0461|-1.0461	5|10	.|0.07813	.|T	.|0.8	-1.1134|-1.1134	11.9684|11.9684	0.53049|0.53049	0.0:0.1773:0.8227:0.0|0.0:0.1773:0.8227:0.0	.|.	.|261;211;256	.|B4DXZ0;Q9BU19-2;Q9BU19	.|.;.;ZN692_HUMAN	V|S	35|256;211;211;255;261	.|ENSP00000305483:P256S;ENSP00000390044:P211S;ENSP00000355427:P211S;ENSP00000355425:P255S;ENSP00000391200:P261S	.|ENSP00000305483:P256S	A|P	-|-	2|1	0|0	ZNF692|ZNF692	247116662|247116662	0.000000|0.000000	0.05858|0.05858	0.007000|0.007000	0.13788|0.13788	0.256000|0.256000	0.26092|0.26092	0.236000|0.236000	0.17967|0.17967	2.355000|2.355000	0.79922|0.79922	0.462000|0.462000	0.41574|0.41574	GCC|CCG		0.622	ZNF692-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000097298.1	NM_017865		17	16	0	0	0	1	0	17	16					A	249150039	G	A	249150039	3	1	435	1	0	0	0	0	1	0	0	0	18094	1203	42	3	817	3	ZNF692	1	249150039	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	5470	249150039	100582	964	21889											
PGBD2	267002	broad.mit.edu	37	chr1	249211828	249211828	+	Frame_Shift_Del	DEL	T	T	-																															gttttctgccatatcacataTtttttgacaaggttttcaca																										TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:249211828delT	ENST00000329291.5	+	3	1192	c.1045delT	c.(1045-1047)tttfs	p.F350fs	PGBD2_ENST00000355360.4_Frame_Shift_Del_p.F99fs|PGBD2_ENST00000539153.1_Frame_Shift_Del_p.F347fs	NM_170725.2	NP_733843.1	Q6P3X8	PGBD2_HUMAN	piggyBac transposable element derived 2	350										NS(1)|endometrium(3)|lung(6)|ovary(1)|skin(3)	14	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.012)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			ATATCACATATTTTTTGACAA	0.438																																						ENST00000355360.4																			0				NS(1)|endometrium(3)|lung(6)|ovary(1)|skin(3)	14						c.(292-294)ttfs		piggyBac transposable element derived 2							112	116	115					1																	249211828		2203	4300	6503	SO:0001589	frameshift_variant	0							g.chr1:249211828delT	AF229602	CCDS31128.1, CCDS31129.1	1q	2008-02-05			ENSG00000185220	ENSG00000185220			19399	protein-coding gene	gene with protein product							Standard	XM_005270333		Approved		uc001ifh.3	Q6P3X8	OTTHUMG00000040424	ENST00000329291.5:c.1045delT	1.37:g.249211828delT	ENSP00000331643:p.Phe350fs					PGBD2_ENST00000329291.5_Frame_Shift_Del_p.F350fs|PGBD2_ENST00000539153.1_Frame_Shift_Del_p.F347fs	p.F99fs	NM_001017434.1	NP_001017434.1	Q6P3X8	PGBD2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		3	562	+	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.012)	350					B3KVR8|Q6MZF8	Frame_Shift_Del	DEL	ENST00000329291.5	37	c.292delT	CCDS31128.1																																																																																				0.438	PGBD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000097318.1			54	80						54	80	---	---	---	---	-	249211828	T	-	249211828	7	5	435	1	0	1	0	1	0	0	0	0	11781	1493	52	0	1051	0	PGBD2	1	249211828	Frame_Shift_Del	DEL	T	TCGA-XK-AAIW-01A-11D-A41K-08	61789	249211828	38793	965	21890											
ACP1	52	broad.mit.edu	37	chr2	272206	272206	+	Intron	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tttcagtgggtcattgacagCggtgctgtttctgactggaa	7	14	13	7	1	3	2	2	2	1	0	3	3	3	3	0	3	2	2	0	3	1	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:272206C>T	ENST00000272065.5	+	3	324				ACP1_ENST00000484464.1_Intron|ACP1_ENST00000272067.6_Silent_p.S44S|ACP1_ENST00000407983.3_Missense_Mutation_p.A96V|ACP1_ENST00000405233.1_Missense_Mutation_p.A54V|ACP1_ENST00000439645.2_Silent_p.S44S	NM_004300.3	NP_004291.1	P24666	PPAC_HUMAN	acid phosphatase 1, soluble							cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|extracellular vesicular exosome (GO:0070062)	acid phosphatase activity (GO:0003993)|non-membrane spanning protein tyrosine phosphatase activity (GO:0004726)	p.S44S(1)		endometrium(1)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	12	all_hematologic(175;0.0429)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.00175)|Lung NSC(108;0.216)|all_epithelial(98;0.236)		all cancers(51;0.000391)|Epithelial(75;0.00281)|OV - Ovarian serous cystadenocarcinoma(76;0.00542)|GBM - Glioblastoma multiforme(21;0.127)	Adenine(DB00173)	TCATTGACAGCGGTGCTGTTT	0.542																																						ENST00000405233.1																			1	Substitution - coding silent(1)	p.S44S(1)	endometrium(1)	endometrium(1)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	12						c.(160-162)gCg>gTg		acid phosphatase 1, soluble							177	143	155					2																	272206		2203	4300	6503	SO:0001627	intron_variant	52					cytoplasm|internal side of plasma membrane|nucleus|soluble fraction	acid phosphatase activity|identical protein binding|non-membrane spanning protein tyrosine phosphatase activity	g.chr2:272206C>T	M87546	CCDS1639.1, CCDS1640.1, CCDS46217.1	2p25	2011-06-09			ENSG00000143727	ENSG00000143727	3.1.3.2	"Protein tyrosine phosphatases / Class II Cys-based PTPs"	122	protein-coding gene	gene with protein product		171500					Standard	NM_001040649		Approved		uc002qwf.3	P24666	OTTHUMG00000086933	ENST00000272065.5:c.231+56C>T	2.37:g.272206C>T						ACP1_ENST00000439645.2_Silent_p.S44S|ACP1_ENST00000272067.6_Silent_p.S44S|ACP1_ENST00000484464.1_Intron|ACP1_ENST00000407983.3_Missense_Mutation_p.A96V|ACP1_ENST00000272065.5_Intron	p.A54V			P24666	PPAC_HUMAN		all cancers(51;0.000391)|Epithelial(75;0.00281)|OV - Ovarian serous cystadenocarcinoma(76;0.00542)|GBM - Glioblastoma multiforme(21;0.127)	4	200	+	all_hematologic(175;0.0429)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.00175)|Lung NSC(108;0.216)|all_epithelial(98;0.236)	0					A8K1L9|B5MCC7|P24667|Q16035|Q16036|Q16725|Q3KQX8|Q53RU0	Missense_Mutation	SNP	ENST00000272065.5	37	c.161C>T	CCDS1639.1	.	.	.	.	.	.	.	.	.	.	C	10.43	1.348426	0.24426	.	.	ENSG00000143727	ENST00000407983;ENST00000405233;ENST00000449425	T;T	0.52754	0.9;0.65	5.87	-2.49	0.06403	.	.	.	.	.	T	0.31734	0.0806	.	.	.	0.21147	N	0.999773	B	0.14012	0.009	B	0.06405	0.002	T	0.20405	-1.0276	8	0.30078	T	0.28	-13.0874	12.0689	0.53605	0.0:0.5082:0.0:0.4918	.	96	B5MCC7	.	V	96;54;54	ENSP00000385404:A96V;ENSP00000384307:A54V	ENSP00000384307:A54V	A	+	2	0	ACP1	262206	0.998000	0.40836	0.788000	0.31933	0.995000	0.86356	0.458000	0.21892	-0.454000	0.07066	-0.137000	0.14449	GCG		0.542	ACP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000195862.3			16	13	0	0	0	1	0	16	13					T	272206	C	T	272206	1	4	435	0	1	0	0	0	0	0	0	0	162	768	27	1		1	ACP1	2	272206	Intron	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08		272206	242927167	966	21891											
TPO	7173	broad.mit.edu	37	chr2	1488475	1488475	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	accgccaaccccactgtgtcCaacgtgttctccacagccgc	8	7	7	19	3	1	0	0	0	1	0	3	0	2	0	7	0	3	1	7	0	2	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:1488475C>T	ENST00000345913.4	+	9	1537	c.1446C>T	c.(1444-1446)tcC>tcT	p.S482S	TPO_ENST00000382201.3_Silent_p.S482S|TPO_ENST00000349624.3_Silent_p.S309S|TPO_ENST00000329066.4_Silent_p.S482S|TPO_ENST00000346956.3_Silent_p.S482S|TPO_ENST00000497517.2_3'UTR|TPO_ENST00000337415.3_Silent_p.S482S|TPO_ENST00000382198.1_Silent_p.S309S	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN	thyroid peroxidase	482					cellular nitrogen compound metabolic process (GO:0034641)|embryonic hemopoiesis (GO:0035162)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide catabolic process (GO:0042744)|small molecule metabolic process (GO:0044281)|thyroid hormone generation (GO:0006590)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|heme binding (GO:0020037)|iodide peroxidase activity (GO:0004447)|peroxidase activity (GO:0004601)			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Dextrothyroxine(DB00509)|Methimazole(DB00763)|Propylthiouracil(DB00550)	CCACTGTGTCCAACGTGTTCT	0.647																																						ENST00000345913.4																			0				breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95						c.(1444-1446)tcC>tcT		thyroid peroxidase	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)						77	71	73					2																	1488475		2203	4300	6503	SO:0001819	synonymous_variant	7173				cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity	g.chr2:1488475C>T		CCDS1643.1, CCDS1644.1, CCDS1646.1	2p25	2008-02-05			ENSG00000115705	ENSG00000115705	1.11.1.7		12015	protein-coding gene	gene with protein product		606765					Standard	NM_175722		Approved	TPX	uc002qww.3	P07202	OTTHUMG00000090271	ENST00000345913.4:c.1446C>T	2.37:g.1488475C>T						TPO_ENST00000329066.4_Silent_p.S482S|TPO_ENST00000382198.1_Silent_p.S309S|TPO_ENST00000346956.3_Silent_p.S482S|TPO_ENST00000349624.3_Silent_p.S309S|TPO_ENST00000337415.3_Silent_p.S482S|TPO_ENST00000382201.3_Silent_p.S482S|TPO_ENST00000497517.2_3'UTR	p.S482S	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	9	1537	+	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)	482					P09934|P09935|Q8IUL0|Q8NF94|Q8NF95|Q8NF96|Q8NF97|Q8TCI9	Silent	SNP	ENST00000345913.4	37	c.1446C>T	CCDS1643.1	.	.	.	.	.	.	.	.	.	.	c	9.356	1.066876	0.20067	.	.	ENSG00000115705	ENST00000446278	.	.	.	5.3	2.14	0.27477	.	.	.	.	.	T	0.44030	0.1274	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.36187	-0.9758	4	.	.	.	-39.8445	2.1789	0.03869	0.2562:0.4556:0.1273:0.1608	.	.	.	.	L	14	.	.	P	+	2	0	TPO	1467482	0.999000	0.42202	1.000000	0.80357	0.748000	0.42578	0.690000	0.25451	1.214000	0.43395	0.556000	0.70494	CCA		0.647	TPO-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206594.2	NM_000547		13	23	0	0	0	1	0	13	23					T	1488475	C	T	1488475	2	4	435	1	0	0	0	0	0	0	0	1	16407	581	21	3		3	TPO	2	1488475	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	1216269	1488475	241710898	967	21892											
TPO	7173	broad.mit.edu	37	chr2	1499804	1499804	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttcacggatgcacagaggCgtgagctggagaagcactcc	10	7	13	11	2	2	3	1	1	1	2	3	5	3	4	1	3	3	3	1	3	1	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:1499804C>T	ENST00000345913.4	+	12	2141	c.2050C>T	c.(2050-2052)Cgt>Tgt	p.R684C	TPO_ENST00000382201.3_Missense_Mutation_p.R627C|TPO_ENST00000349624.3_Missense_Mutation_p.R511C|TPO_ENST00000329066.4_Missense_Mutation_p.R684C|TPO_ENST00000346956.3_Missense_Mutation_p.R684C|TPO_ENST00000497517.2_Intron|TPO_ENST00000337415.3_Missense_Mutation_p.R684C|TPO_ENST00000382198.1_Missense_Mutation_p.R511C	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN	thyroid peroxidase	684					cellular nitrogen compound metabolic process (GO:0034641)|embryonic hemopoiesis (GO:0035162)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide catabolic process (GO:0042744)|small molecule metabolic process (GO:0044281)|thyroid hormone generation (GO:0006590)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|heme binding (GO:0020037)|iodide peroxidase activity (GO:0004447)|peroxidase activity (GO:0004601)	p.R684C(1)		breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Dextrothyroxine(DB00509)|Methimazole(DB00763)|Propylthiouracil(DB00550)	TGCACAGAGGCGTGAGCTGGA	0.577																																						ENST00000345913.4																			1	Substitution - Missense(1)	p.R684C(1)	ovary(1)	breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95						c.(2050-2052)Cgt>Tgt		thyroid peroxidase	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)						78	63	68					2																	1499804		2203	4300	6503	SO:0001583	missense	7173				cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity	g.chr2:1499804C>T		CCDS1643.1, CCDS1644.1, CCDS1646.1	2p25	2008-02-05			ENSG00000115705	ENSG00000115705	1.11.1.7		12015	protein-coding gene	gene with protein product		606765					Standard	NM_175722		Approved	TPX	uc002qww.3	P07202	OTTHUMG00000090271	ENST00000345913.4:c.2050C>T	2.37:g.1499804C>T	ENSP00000318820:p.Arg684Cys					TPO_ENST00000329066.4_Missense_Mutation_p.R684C|TPO_ENST00000382198.1_Missense_Mutation_p.R511C|TPO_ENST00000346956.3_Missense_Mutation_p.R684C|TPO_ENST00000349624.3_Missense_Mutation_p.R511C|TPO_ENST00000337415.3_Missense_Mutation_p.R684C|TPO_ENST00000382201.3_Missense_Mutation_p.R627C|TPO_ENST00000497517.2_Intron	p.R684C	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	12	2141	+	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)	684					P09934|P09935|Q8IUL0|Q8NF94|Q8NF95|Q8NF96|Q8NF97|Q8TCI9	Missense_Mutation	SNP	ENST00000345913.4	37	c.2050C>T	CCDS1643.1	.	.	.	.	.	.	.	.	.	.	C	7.302	0.613147	0.14066	.	.	ENSG00000115705	ENST00000337415;ENST00000345913;ENST00000346956;ENST00000349624;ENST00000329066;ENST00000382201;ENST00000382198;ENST00000422464;ENST00000469607	T;T;T;T;T;T;T;T;T	0.73575	-0.76;-0.76;-0.76;-0.76;-0.76;-0.76;-0.76;-0.76;-0.76	4.52	4.52	0.55395	.	1.024840	0.07679	N	0.936752	T	0.71837	0.3387	M	0.80332	2.49	0.80722	D	1	B;P;B;B	0.36789	0.028;0.57;0.051;0.035	B;B;B;B	0.24269	0.01;0.052;0.014;0.017	T	0.72093	-0.4394	10	0.49607	T	0.09	-9.0606	8.7369	0.34534	0.0:0.8284:0.0:0.1716	.	684;511;627;684	P07202-4;P07202-5;P07202-2;P07202	.;.;.;PERT_HUMAN	C	684;684;684;511;684;627;511;613;158	ENSP00000337263:R684C;ENSP00000318820:R684C;ENSP00000263886:R684C;ENSP00000332044:R511C;ENSP00000329869:R684C;ENSP00000371636:R627C;ENSP00000371633:R511C;ENSP00000405788:R613C;ENSP00000419461:R158C	ENSP00000329869:R684C	R	+	1	0	TPO	1478811	0.036000	0.19791	0.197000	0.23402	0.084000	0.17831	0.320000	0.19540	2.239000	0.73571	0.561000	0.74099	CGT		0.577	TPO-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206594.2	NM_000547		3	11	0	0	0	1	0	3	11					T	1499804	C	T	1499804	3	4	435	1	0	0	0	0	1	0	0	0	16407	768	27	1	2092	1	TPO	2	1499804	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	11329	1499804	241699569	968	21893											
PXDN	7837	broad.mit.edu	37	chr2	1670057	1670057	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagagcacgcatactctccgCtgtccccctgtacgacgttc	7	9	8	17	4	1	1	0	0	1	1	4	2	2	1	3	0	3	5	3	0	2	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:1670057C>A	ENST00000252804.4	-	10	1270	c.1220G>T	c.(1219-1221)aGc>aTc	p.S407I	PXDN_ENST00000483018.1_5'UTR	NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN	peroxidasin homolog (Drosophila)	407	Ig-like C2-type 2.				extracellular matrix organization (GO:0030198)|hydrogen peroxide catabolic process (GO:0042744)|immune response (GO:0006955)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|oxidation-reduction process (GO:0055114)	endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|heme binding (GO:0020037)|interleukin-1 receptor antagonist activity (GO:0005152)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)			breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		ATACTCTCCGCTGTCCCCCTG	0.587																																						ENST00000252804.4																			0				breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112						c.(1219-1221)aGc>aTc		peroxidasin homolog (Drosophila)							65	70	68					2																	1670057		2148	4253	6401	SO:0001583	missense	7837				extracellular matrix organization|hydrogen peroxide catabolic process|immune response	endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix	extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity	g.chr2:1670057C>A	AF200348	CCDS46221.1	2p25.3	2013-01-11			ENSG00000130508	ENSG00000130508		"Immunoglobulin superfamily / I-set domain containing"	14966	protein-coding gene	gene with protein product		605158				10441517, 9039502	Standard	XM_005264707		Approved	KIAA0230, PRG2, MG50, D2S448, D2S448E, PXN	uc002qxa.3	Q92626	OTTHUMG00000059697	ENST00000252804.4:c.1220G>T	2.37:g.1670057C>A	ENSP00000252804:p.Ser407Ile					PXDN_ENST00000483018.1_5'UTR	p.S407I	NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)	10	1270	-	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)	407			Ig-like C2-type 2.		A8QM65|D6W4Y0|Q4KMG2	Missense_Mutation	SNP	ENST00000252804.4	37	c.1220G>T	CCDS46221.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.89|11.89	1.773075|1.773075	0.31411|0.31411	.|.	.|.	ENSG00000130508|ENSG00000130508	ENST00000433670|ENST00000252804	.|T	.|0.32753	.|1.44	4.57|4.57	4.57|4.57	0.56435|0.56435	.|Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.|0.054372	.|0.85682	.|D	.|0.000000	T|T	0.48874|0.48874	0.1524|0.1524	M|M	0.82132|0.82132	2.575|2.575	0.46654|0.46654	D|D	0.999149|0.999149	.|P;P	.|0.40000	.|0.698;0.619	.|P;P	.|0.49140	.|0.465;0.601	T|T	0.52689|0.52689	-0.8542|-0.8542	5|10	.|0.48119	.|T	.|0.1	-23.9479|-23.9479	15.7097|15.7097	0.77615|0.77615	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|407;407	.|Q92626-2;Q92626	.|.;PXDN_HUMAN	S|I	403|407	.|ENSP00000252804:S407I	.|ENSP00000252804:S407I	A|S	-|-	1|2	0|0	PXDN|PXDN	1649064|1649064	0.993000|0.993000	0.37304|0.37304	0.648000|0.648000	0.29521|0.29521	0.003000|0.003000	0.03518|0.03518	3.064000|3.064000	0.49986|0.49986	2.362000|2.362000	0.80069|0.80069	0.655000|0.655000	0.94253|0.94253	GCG|AGC		0.587	PXDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322505.1	XM_056455		8	32	1	0	1.26484e-09	1	1.34508e-09	8	32					A	1670057	C	A	1670057	3	1	435	1	0	0	0	0	1	0	0	0	12847	797	28	5	3275	5	PXDN	2	1670057	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	170253	1670057	241529316	969	21894											
TSSC1	7260	broad.mit.edu	37	chr2	3200658	3200658	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtgggctcactgacctcatgCtccgggtgtcccagccacgg	5	8	13	15	2	2	1	2	1	0	0	4	1	4	1	4	3	2	2	4	3	0	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:3200658C>A	ENST00000382125.4	-	6	839	c.647G>T	c.(646-648)aGc>aTc	p.S216I	TSSC1_ENST00000478754.1_5'UTR|TSSC1_ENST00000398659.4_Missense_Mutation_p.S243I	NM_003310.2	NP_003301.1	Q53HC9	TSSC1_HUMAN	tumor suppressing subtransferable candidate 1	216										breast(2)|kidney(2)|large_intestine(3)|lung(9)|prostate(1)|skin(1)	18	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)	all_cancers(51;0.212)		OV - Ovarian serous cystadenocarcinoma(76;0.00877)|Epithelial(75;0.0283)|all cancers(51;0.0464)		TGACCTCATGCTCCGGGTGTC	0.627																																					Colon(140;1261 1762 4183 34270 49743)	ENST00000398659.4																			0				breast(2)|kidney(2)|large_intestine(3)|lung(9)|prostate(1)|skin(1)	18						c.(727-729)aGc>aTc		tumor suppressing subtransferable candidate 1							87	61	70					2																	3200658		2203	4300	6503	SO:0001583	missense	7260						protein binding	g.chr2:3200658C>A	AF019952	CCDS1651.1	2p25.3	2013-01-10			ENSG00000032389	ENSG00000032389		"WD repeat domain containing"	12383	protein-coding gene	gene with protein product		608998				9403053, 9925925	Standard	NM_003310		Approved		uc002qxj.2	Q53HC9	OTTHUMG00000090329	ENST00000382125.4:c.647G>T	2.37:g.3200658C>A	ENSP00000371559:p.Ser216Ile					TSSC1_ENST00000478754.1_5'UTR|TSSC1_ENST00000382125.4_Missense_Mutation_p.S216I	p.S243I			Q53HC9	TSSC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(76;0.00877)|Epithelial(75;0.0283)|all cancers(51;0.0464)	7	868	-	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)	all_cancers(51;0.212)	216					D6W4Y1|O43179|Q53S19|Q53SG2	Missense_Mutation	SNP	ENST00000382125.4	37	c.728G>T	CCDS1651.1	.	.	.	.	.	.	.	.	.	.	C	18.61	3.660932	0.67700	.	.	ENSG00000032389	ENST00000382125;ENST00000398659;ENST00000441271	T;T;T	0.66460	2.36;2.36;-0.21	5.38	0.901	0.19284	WD40/YVTN repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.272209	0.45126	D	0.000381	T	0.68007	0.2954	M	0.70787	2.145	0.80722	D	1	P	0.36010	0.532	B	0.42798	0.398	T	0.69859	-0.5031	10	0.87932	D	0	-13.4052	11.4458	0.50123	0.0:0.5666:0.3581:0.0753	.	216	Q53HC9	TSSC1_HUMAN	I	216;243;65	ENSP00000371559:S216I;ENSP00000381652:S243I;ENSP00000393350:S65I	ENSP00000371559:S216I	S	-	2	0	TSSC1	3179665	1.000000	0.71417	0.973000	0.42090	0.979000	0.70002	0.941000	0.29005	0.240000	0.21263	0.655000	0.94253	AGC		0.627	TSSC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206694.2	NM_003310		4	10	1	0	1	1	1	4	10					A	3200658	C	A	3200658	3	1	435	1	0	0	0	0	1	0	0	0	16663	797	28	5	532	5	TSSC1	2	3200658	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	1530601	3200658	239998715	970	21895											
TTC15	51112	broad.mit.edu	37	chr2	3447573	3447573	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccatggtccccttctcgatgCgcatcttgcacgcggagctt	5	11	10	15	4	2	0	0	0	2	0	4	2	3	1	3	2	3	3	3	2	0	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:3447573C>T	ENST00000324266.5	+	6	1636	c.1441C>T	c.(1441-1443)Cgc>Tgc	p.R481C	TRAPPC12_ENST00000382110.2_Missense_Mutation_p.R481C|TRAPPC12_ENST00000469147.1_3'UTR	NM_016030.5	NP_057114.5	Q8WVT3	TPC12_HUMAN	trafficking protein particle complex 12	481					vesicle-mediated transport (GO:0016192)												CTTCTCGATGCGCATCTTGCA	0.547																																						ENST00000324266.5																			0											c.(1441-1443)Cgc>Tgc		trafficking protein particle complex 12							114	98	104					2																	3447573		2202	4300	6502	SO:0001583	missense	51112						binding	g.chr2:3447573C>T	BC017475	CCDS1652.1	2p25.3	2013-01-10	2011-12-12	2011-12-12	ENSG00000171853	ENSG00000171853		"Trafficking protein particle complex", "Tetratricopeptide (TTC) repeat domain containing"	24284	protein-coding gene	gene with protein product		614139	"tetratricopeptide repeat domain 15"	TTC15		10810093, 21525244, 20562859	Standard	NM_016030		Approved	CGI-87, TTC-15	uc002qxm.1	Q8WVT3	OTTHUMG00000090328	ENST00000324266.5:c.1441C>T	2.37:g.3447573C>T	ENSP00000324318:p.Arg481Cys					TRAPPC12_ENST00000469147.1_3'UTR|TRAPPC12_ENST00000382110.2_Missense_Mutation_p.R481C	p.R481C	NM_016030.5	NP_057114.5	Q8WVT3	TTC15_HUMAN			6	1636	+			481					B3KV01|D6W4Y2|Q8WVW1|Q9Y395	Missense_Mutation	SNP	ENST00000324266.5	37	c.1441C>T	CCDS1652.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.9|20.9	4.061017|4.061017	0.76074|0.76074	.|.	.|.	ENSG00000171853|ENSG00000171853	ENST00000433382|ENST00000382110;ENST00000304601;ENST00000324266	.|T;T	.|0.61980	.|0.06;0.06	5.36|5.36	4.4|4.4	0.53042|0.53042	.|.	.|0.066546	.|0.64402	.|D	.|0.000012	T|T	0.80732|0.80732	0.4679|0.4679	M|M	0.89287|0.89287	3.02|3.02	0.80722|0.80722	D|D	1|1	.|D;P	.|0.89917	.|1.0;0.952	.|D;B	.|0.83275	.|0.996;0.372	D|D	0.83794|0.83794	0.0232|0.0232	5|10	.|0.72032	.|D	.|0.01	.|.	12.2188|12.2188	0.54423|0.54423	0.2044:0.7956:0.0:0.0|0.2044:0.7956:0.0:0.0	.|.	.|464;481	.|E7ENL7;Q8WVT3	.|.;TPC12_HUMAN	V|C	26|481;464;481	.|ENSP00000371544:R481C;ENSP00000324318:R481C	.|ENSP00000303612:R464C	A|R	+|+	2|1	0|0	TTC15|TTC15	3426580|3426580	1.000000|1.000000	0.71417|0.71417	0.995000|0.995000	0.50966|0.50966	0.965000|0.965000	0.64279|0.64279	1.482000|1.482000	0.35486|0.35486	2.504000|2.504000	0.84457|0.84457	0.585000|0.585000	0.79938|0.79938	GCG|CGC		0.547	TRAPPC12-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206693.2	NM_016030		4	14	0	0	0	1	0	4	14					T	3447573	C	T	3447573	3	4	435	1	0	0	0	0	1	0	0	0	16679	768	27	1	1459	1	TTC15	2	3447573	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	246915	3447573	239751800	971	21896											
TTC15	51112	broad.mit.edu	37	chr2	3461427	3461427	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagcaaggcttagcagaagaCggcggcatgagcagcgtgac	12	4	16	9	3	0	4	0	2	0	2	0	5	0	4	0	3	4	5	0	3	3	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:3461427C>T	ENST00000324266.5	+	7	1761	c.1566C>T	c.(1564-1566)gaC>gaT	p.D522D	TRAPPC12_ENST00000382110.2_Silent_p.D522D|TRAPPC12_ENST00000469147.1_3'UTR	NM_016030.5	NP_057114.5	Q8WVT3	TPC12_HUMAN	trafficking protein particle complex 12	522					vesicle-mediated transport (GO:0016192)												TAGCAGAAGACGGCGGCATGA	0.493																																						ENST00000324266.5																			0											c.(1564-1566)gaC>gaT		trafficking protein particle complex 12							94	87	89					2																	3461427		2203	4300	6503	SO:0001819	synonymous_variant	51112						binding	g.chr2:3461427C>T	BC017475	CCDS1652.1	2p25.3	2013-01-10	2011-12-12	2011-12-12	ENSG00000171853	ENSG00000171853		"Trafficking protein particle complex", "Tetratricopeptide (TTC) repeat domain containing"	24284	protein-coding gene	gene with protein product		614139	"tetratricopeptide repeat domain 15"	TTC15		10810093, 21525244, 20562859	Standard	NM_016030		Approved	CGI-87, TTC-15	uc002qxm.1	Q8WVT3	OTTHUMG00000090328	ENST00000324266.5:c.1566C>T	2.37:g.3461427C>T						TRAPPC12_ENST00000469147.1_3'UTR|TRAPPC12_ENST00000382110.2_Silent_p.D522D	p.D522D	NM_016030.5	NP_057114.5	Q8WVT3	TTC15_HUMAN			7	1761	+			522					B3KV01|D6W4Y2|Q8WVW1|Q9Y395	Silent	SNP	ENST00000324266.5	37	c.1566C>T	CCDS1652.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	0.652|0.652	-0.809094|-0.809094	0.02819|0.02819	.|.	.|.	ENSG00000171853|ENSG00000171853	ENST00000433382|ENST00000441983	.|.	.|.	.|.	5.1|5.1	-3.82|-3.82	0.04281|0.04281	.|.	.|.	.|.	.|.	.|.	T|T	0.62708|0.62708	0.2450|0.2450	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.60880|0.60880	-0.7175|-0.7175	4|4	.|.	.|.	.|.	.|.	13.5155|13.5155	0.61539|0.61539	0.0:0.1762:0.0:0.8238|0.0:0.1762:0.0:0.8238	.|.	.|.	.|.	.|.	W|M	68|202	.|.	.|.	R|T	+|+	1|2	2|0	TTC15|TTC15	3440434|3440434	0.983000|0.983000	0.35010|0.35010	0.066000|0.066000	0.19879|0.19879	0.060000|0.060000	0.15804|0.15804	0.091000|0.091000	0.15046|0.15046	-0.931000|-0.931000	0.03746|0.03746	-0.670000|-0.670000	0.03821|0.03821	CGG|ACG		0.493	TRAPPC12-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206693.2	NM_016030		11	14	0	0	0	1	0	11	14					T	3461427	C	T	3461427	2	4	435	1	0	0	0	0	0	0	0	1	16679	535	19	1		1	TTC15	2	3461427	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	13854	3461427	239737946	972	21897											
ADI1	55256	broad.mit.edu	37	chr2	3504604	3504604	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccttctcgtccaccgtgaagCggtgatagatccccgcgggg	6	8	13	14	5	1	3	0	2	1	1	4	3	3	3	5	3	1	0	5	3	2	2	rs147446974		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:3504604C>T	ENST00000327435.6	-	3	649	c.401G>A	c.(400-402)cGc>cAc	p.R134H	ADI1_ENST00000382093.5_Missense_Mutation_p.R128H	NM_018269.3	NP_060739.2			acireductone dioxygenase 1											breast(2)|large_intestine(2)|lung(4)|ovary(1)|stomach(1)	10	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)			OV - Ovarian serous cystadenocarcinoma(76;0.0729)|Epithelial(75;0.173)|all cancers(51;0.228)		CACCGTGAAGCGGTGATAGAT	0.637													C|||	1	0.000199681	0	0	5008	,	,		17899	0.001		0	False		,,,				2504	0					ENST00000382093.5																			0				breast(2)|large_intestine(2)|lung(4)|ovary(1)|stomach(1)	10						c.(382-384)cGc>cAc		acireductone dioxygenase 1		C	HIS/ARG	2,4404	4.2+/-10.8	0,2,2201	135	108	117		401	4.7	1	2	dbSNP_134	117	0,8600		0,0,4300	no	missense	ADI1	NM_018269.3	29	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	probably-damaging	134/180	3504604	2,13004	2203	4300	6503	SO:0001583	missense	55256				L-methionine salvage from methylthioadenosine	cytoplasm|nucleus|plasma membrane	acireductone dioxygenase (Ni2+-requiring) activity|metal ion binding|protein binding	g.chr2:3504604C>T		CCDS1653.1	2p25.2	2013-05-29			ENSG00000182551	ENSG00000182551	1.13.11.54		30576	protein-coding gene	gene with protein product	"membrane-type 1 matrix metalloproteinase cytoplasmic tail binding protein-1"	613400				14718544, 15938715	Standard	NM_018269		Approved	SIPL, MTCBP-1, ARD, APL1, FLJ10913, HMFT1638, mtnD	uc002qxp.4	Q9BV57	OTTHUMG00000112441	ENST00000327435.6:c.401G>A	2.37:g.3504604C>T	ENSP00000333666:p.Arg134His					ADI1_ENST00000327435.6_Missense_Mutation_p.R134H	p.R128H			Q9BV57	MTND_HUMAN		OV - Ovarian serous cystadenocarcinoma(76;0.0729)|Epithelial(75;0.173)|all cancers(51;0.228)	3	3220	-	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)		134						Missense_Mutation	SNP	ENST00000327435.6	37	c.383G>A	CCDS1653.1	.	.	.	.	.	.	.	.	.	.	C	17.89	3.498839	0.64298	4.54E-4	0.0	ENSG00000182551	ENST00000327435;ENST00000382093	.	.	.	4.73	4.73	0.59995	Cupin, RmlC-type (1);RmlC-like jelly roll fold (1);	0.000000	0.85682	D	0.000000	D	0.83968	0.5369	H	0.97023	3.925	0.80722	D	1	D	0.65815	0.995	P	0.52343	0.696	D	0.90135	0.4209	9	0.72032	D	0.01	-22.0147	16.6473	0.85179	0.0:1.0:0.0:0.0	.	134	Q9BV57	MTND_HUMAN	H	134;128	.	ENSP00000333666:R134H	R	-	2	0	ADI1	3483611	1.000000	0.71417	1.000000	0.80357	0.381000	0.30169	7.311000	0.78958	2.339000	0.79563	0.655000	0.94253	CGC		0.637	ADI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000231914.6	NM_018269		3	8	0	0	0	1	0	3	8					T	3504604	C	T	3504604	3	4	435	1	0	0	0	0	1	0	0	0	315	768	27	1	146	1	ADI1	2	3504604	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	43177	3504604	239694769	973	21898											
CMPK2	129607	broad.mit.edu	37	chr2	7003601	7003601	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taatattatcttacccgtggCatccagtccttcgatggcaa	10	13	7	11	2	1	0	0	0	1	0	4	1	3	0	3	2	1	2	3	2	5	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:7003601C>T	ENST00000256722.5	-	2	783	c.784G>A	c.(784-786)Gcc>Acc	p.A262T	CMPK2_ENST00000404168.1_Missense_Mutation_p.A262T|CMPK2_ENST00000458098.1_Missense_Mutation_p.A262T|CMPK2_ENST00000478738.1_5'UTR	NM_207315.3	NP_997198.2	Q5EBM0	CMPK2_HUMAN	cytidine monophosphate (UMP-CMP) kinase 2, mitochondrial	262					cellular response to lipopolysaccharide (GO:0071222)|dTDP biosynthetic process (GO:0006233)|dUDP biosynthetic process (GO:0006227)|nucleoside diphosphate phosphorylation (GO:0006165)|nucleoside triphosphate biosynthetic process (GO:0009142)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cytidylate kinase activity (GO:0004127)|nucleoside diphosphate kinase activity (GO:0004550)|thymidylate kinase activity (GO:0004798)|UMP kinase activity (GO:0033862)			large_intestine(1)|lung(13)|prostate(1)|upper_aerodigestive_tract(1)	16	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					TTACCCGTGGCATCCAGTCCT	0.433																																						ENST00000256722.5																			0				large_intestine(1)|lung(13)|prostate(1)|upper_aerodigestive_tract(1)	16						c.(784-786)Gcc>Acc		cytidine monophosphate (UMP-CMP) kinase 2, mitochondrial							118	118	118					2																	7003601		1900	4117	6017	SO:0001583	missense	129607				dTDP biosynthetic process	mitochondrion	ATP binding|cytidylate kinase activity|thymidylate kinase activity|UMP kinase activity	g.chr2:7003601C>T		CCDS42648.1, CCDS58695.1, CCDS58696.1	2p25.2	2008-01-25			ENSG00000134326	ENSG00000134326	2.7.4.14		27015	protein-coding gene	gene with protein product	"cytidylate kinase 2"	611787				17999954	Standard	NM_207315		Approved	TYKi, UMP-CMPK2	uc002qyo.4	Q5EBM0	OTTHUMG00000151629	ENST00000256722.5:c.784G>A	2.37:g.7003601C>T	ENSP00000256722:p.Ala262Thr					CMPK2_ENST00000404168.1_Missense_Mutation_p.A262T|CMPK2_ENST00000478738.1_5'UTR|CMPK2_ENST00000458098.1_Missense_Mutation_p.A262T	p.A262T	NM_207315.3	NP_997198.2	Q5EBM0	CMPK2_HUMAN			2	783	-	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		262					A2RUB0|A5D8T2|B7ZM18|Q6ZRU2|Q96AL8	Missense_Mutation	SNP	ENST00000256722.5	37	c.784G>A	CCDS42648.1	.	.	.	.	.	.	.	.	.	.	C	28.8	4.955277	0.92726	.	.	ENSG00000134326	ENST00000458098;ENST00000256722;ENST00000404168	D;D;D	0.94897	-3.55;-3.55;-3.55	5.21	5.21	0.72293	.	0.000000	0.85682	D	0.000000	D	0.97087	0.9048	M	0.75447	2.3	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.97210	0.9870	10	0.54805	T	0.06	-24.8337	18.7567	0.91835	0.0:1.0:0.0:0.0	.	262;262	Q5EBM0-3;Q5EBM0	.;CMPK2_HUMAN	T	262	ENSP00000396385:A262T;ENSP00000256722:A262T;ENSP00000384915:A262T	ENSP00000256722:A262T	A	-	1	0	CMPK2	6921052	1.000000	0.71417	1.000000	0.80357	0.843000	0.47879	6.409000	0.73289	2.431000	0.82371	0.557000	0.71058	GCC		0.433	CMPK2-002	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323339.2	NM_207315		23	42	0	0	0	1	0	23	42					T	7003601	C	T	7003601	3	4	435	1	0	0	0	0	1	0	0	0	3581	710	25	3	581	3	CMPK2	2	7003601	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	3498997	7003601	236195772	974	21899											
RSAD2	91543	broad.mit.edu	37	chr2	7018222	7018222	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttccacacagccaaaacatcCtttgtgctgccccttgagga	10	10	7	14	0	0	1	0	1	0	0	2	2	2	2	5	1	4	1	5	1	2	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:7018222C>A	ENST00000382040.3	+	1	427	c.291C>A	c.(289-291)tcC>tcA	p.S97S	RSAD2_ENST00000541728.1_5'Flank	NM_080657.4	NP_542388.2			radical S-adenosyl methionine domain containing 2											endometrium(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(1)	20	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			OV - Ovarian serous cystadenocarcinoma(76;0.191)		CCAAAACATCCTTTGTGCTGC	0.507																																						ENST00000382040.3																			0				endometrium(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(1)	20						c.(289-291)tcC>tcA		radical S-adenosyl methionine domain containing 2							114	101	106					2																	7018222		2203	4300	6503	SO:0001819	synonymous_variant	91543				defense response to virus	endoplasmic reticulum membrane|Golgi apparatus	catalytic activity|iron-sulfur cluster binding|metal ion binding	g.chr2:7018222C>A	AF442151	CCDS1656.1	2p25.2	2008-02-05			ENSG00000134321	ENSG00000134321			30908	protein-coding gene	gene with protein product		607810				11752458	Standard	NM_080657		Approved	cig5, viperin, vig1	uc002qyp.1	Q8WXG1	OTTHUMG00000090352	ENST00000382040.3:c.291C>A	2.37:g.7018222C>A							p.S97S	NM_080657.4	NP_542388.2	Q8WXG1	RSAD2_HUMAN		OV - Ovarian serous cystadenocarcinoma(76;0.191)	1	427	+	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		97						Silent	SNP	ENST00000382040.3	37	c.291C>A	CCDS1656.1																																																																																				0.507	RSAD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206724.2	NM_080657		12	23	1	0	0.00010058	1	0.000103117	12	23					A	7018222	C	A	7018222	2	1	435	1	0	0	0	0	0	0	0	1	13695	668	24	5		5	RSAD2	2	7018222	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	14621	7018222	236181151	975	21900											
ADAM17	6868	broad.mit.edu	37	chr2	9637268	9637268	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	catgcacaggactccagctgCtgttccctctcgcagaaagg	9	8	10	14	1	1	1	0	0	1	1	4	2	3	2	2	2	3	5	2	2	1	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:9637268C>T	ENST00000310823.3	-	14	1940	c.1758G>A	c.(1756-1758)caG>caA	p.Q586Q		NM_003183.4	NP_003174.3	P78536	ADA17_HUMAN	ADAM metallopeptidase domain 17	586	Cys-rich.				apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|B cell differentiation (GO:0030183)|cell adhesion (GO:0007155)|cell adhesion mediated by integrin (GO:0033627)|cell motility (GO:0048870)|collagen catabolic process (GO:0030574)|epidermal growth factor receptor signaling pathway (GO:0007173)|epidermal growth factor-activated receptor transactivation by G-protein coupled receptor signaling pathway (GO:0035625)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|germinal center formation (GO:0002467)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|membrane protein ectodomain proteolysis (GO:0006509)|membrane protein intracellular domain proteolysis (GO:0031293)|negative regulation of interleukin-8 production (GO:0032717)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil mediated immunity (GO:0002446)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|PMA-inducible membrane protein ectodomain proteolysis (GO:0051088)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cellular component movement (GO:0051272)|positive regulation of chemokine production (GO:0032722)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of leukocyte chemotaxis (GO:0002690)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of T cell chemotaxis (GO:0010820)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|proteolysis (GO:0006508)|regulation of mast cell apoptotic process (GO:0033025)|response to drug (GO:0042493)|response to high density lipoprotein particle (GO:0055099)|response to hypoxia (GO:0001666)|response to lipopolysaccharide (GO:0032496)|spleen development (GO:0048536)|T cell differentiation in thymus (GO:0033077)|wound healing, spreading of epidermal cells (GO:0035313)	actin cytoskeleton (GO:0015629)|apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)|interleukin-6 receptor binding (GO:0005138)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|Notch binding (GO:0005112)|PDZ domain binding (GO:0030165)|zinc ion binding (GO:0008270)			breast(1)|cervix(4)|endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)	28	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.225)		ACTCCAGCTGCTGTTCCCTCT	0.517																																						ENST00000310823.3																			0				breast(1)|cervix(4)|endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)	28						c.(1756-1758)caG>caA		ADAM metallopeptidase domain 17							199	170	180					2																	9637268		2203	4300	6503	SO:0001819	synonymous_variant	6868				B cell differentiation|cell adhesion mediated by integrin|epidermal growth factor receptor signaling pathway|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|germinal center formation|membrane protein intracellular domain proteolysis|negative regulation of interleukin-8 production|nerve growth factor receptor signaling pathway|Notch signaling pathway|PMA-inducible membrane protein ectodomain proteolysis|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of chemokine production|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of protein phosphorylation|positive regulation of T cell chemotaxis|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of mast cell apoptosis|response to drug|response to high density lipoprotein particle stimulus|response to hypoxia|response to lipopolysaccharide|spleen development|T cell differentiation in thymus|wound healing, spreading of epidermal cells	actin cytoskeleton|apical plasma membrane|cell surface|cytoplasm|integral to plasma membrane|membrane raft	integrin binding|interleukin-6 receptor binding|metalloendopeptidase activity|PDZ domain binding|SH3 domain binding|zinc ion binding	g.chr2:9637268C>T	U69611	CCDS1665.1	2p25	2010-08-05	2008-07-31		ENSG00000151694	ENSG00000151694		"ADAM metallopeptidase domain containing", "CD molecules"	195	protein-coding gene	gene with protein product		603639	"tumor necrosis factor, alpha, converting enzyme"	TACE		9034190, 9574564	Standard	NM_003183		Approved	cSVP, CD156B	uc002qzu.3	P78536	OTTHUMG00000090425	ENST00000310823.3:c.1758G>A	2.37:g.9637268C>T							p.Q586Q	NM_003183.4	NP_003174.3	P78536	ADA17_HUMAN		Epithelial(75;0.225)	14	1940	-	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		586			Cys-rich.		O60226	Silent	SNP	ENST00000310823.3	37	c.1758G>A	CCDS1665.1																																																																																				0.517	ADAM17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206857.1			29	38	0	0	0	1	0	29	38					T	9637268	C	T	9637268	2	4	435	1	0	0	0	0	0	0	0	1	238	796	28	3		3	ADAM17	2	9637268	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	2619046	9637268	233562105	976	21901											
YWHAQ	10971	broad.mit.edu	37	chr2	9731520	9731520	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccatataacaaataaacttaCgttttcgatcatcaccacac	16	11	2	12	2	2	0	2	0	0	0	3	1	2	0	2	0	3	1	2	0	6	6			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:9731520C>T	ENST00000381844.4	-	2	582		c.e2+1		YWHAQ_ENST00000474715.1_Splice_Site|YWHAQ_ENST00000238081.3_Splice_Site			P27348	1433T_HUMAN	tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, theta						apoptotic process (GO:0006915)|intrinsic apoptotic signaling pathway (GO:0097193)|membrane organization (GO:0061024)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|protein targeting (GO:0006605)|small GTPase mediated signal transduction (GO:0007264)|substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|protein complex (GO:0043234)	protein N-terminus binding (GO:0047485)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)	6	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.241)		AATAAACTTACGTTTTCGATC	0.383																																						ENST00000381844.4																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)	6						c.e2+1		tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, theta polypeptide							85	81	82					2																	9731520		2203	4300	6503	SO:0001630	splice_region_variant	10971				negative regulation of transcription, DNA-dependent	centrosome|nucleus	protein N-terminus binding	g.chr2:9731520C>T	AF070556	CCDS1666.1	2p25.2-p25.1	2013-12-03	2013-12-03		ENSG00000134308	ENSG00000134308			12854	protein-coding gene	gene with protein product	"protein tau"	609009	"tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, theta polypeptide"			11080204	Standard	NM_006826		Approved	HS1, 14-3-3	uc002qzx.3	P27348	OTTHUMG00000013848	ENST00000381844.4:c.418+1G>A	2.37:g.9731520C>T						YWHAQ_ENST00000238081.3_Splice_Site|YWHAQ_ENST00000474715.1_Splice_Site				P27348	1433T_HUMAN		Epithelial(75;0.241)	2	582	-	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)							D6W4Z5|Q567U5|Q5TZU8|Q9UP48	Splice_Site	SNP	ENST00000381844.4	37		CCDS1666.1	.	.	.	.	.	.	.	.	.	.	C	25.7	4.666899	0.88251	.	.	ENSG00000134308	ENST00000238081;ENST00000381844;ENST00000539979;ENST00000446619	.	.	.	5.33	5.33	0.75918	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.373	0.94498	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	YWHAQ	9648971	1.000000	0.71417	1.000000	0.80357	0.934000	0.57294	7.681000	0.84073	2.649000	0.89929	0.585000	0.79938	.		0.383	YWHAQ-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039014.4	NM_006826	Intron	14	31	0	0	0	1	0	14	31					T	9731520	C	T	9731520	5	4	435	1	0	0	0	0	0	0	1	0	17502	550	19	1	334	1	YWHAQ	2	9731520	Splice_Site	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	94252	9731520	233467853	977	21902											
TAF1B	9014	broad.mit.edu	37	chr2	10022928	10022928	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cgtgacagaggaatctttggTatagaggtaagttattttct	11	15	11	4	1	2	3	0	1	2	2	2	4	2	4	0	3	0	3	0	3	5	7			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:10022928T>C	ENST00000263663.5	+	8	989	c.801T>C	c.(799-801)ggT>ggC	p.G267G	TAF1B_ENST00000396242.3_Silent_p.G12G	NM_005680.2	NP_005671	Q53T94	TAF1B_HUMAN	TATA box binding protein (TBP)-associated factor, RNA polymerase I, B, 63kDa	267	C-terminal cyclin fold.				gene expression (GO:0010467)|RNA polymerase I transcriptional preinitiation complex assembly at the promoter for the nuclear large rRNA transcript (GO:0001189)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|RNA polymerase I core factor complex (GO:0070860)	metal ion binding (GO:0046872)|RNA polymerase I CORE element sequence-specific DNA binding (GO:0001164)|RNA polymerase I CORE element sequence-specific DNA binding transcription factor recruiting transcription factor activity (GO:0001187)|sequence-specific DNA binding transcription factor activity (GO:0003700)|TBP-class protein binding (GO:0017025)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|lung(4)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	14	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					GAATCTTTGGTATAGAGGTAA	0.323																																						ENST00000263663.5																			0				breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|lung(4)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	14						c.(799-801)ggT>ggC		TATA box binding protein (TBP)-associated factor, RNA polymerase I, B, 63kDa							97	101	100					2																	10022928		2203	4295	6498	SO:0001819	synonymous_variant	9014				termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:10022928T>C	L39061	CCDS33143.1	2p25	2008-06-02	2002-08-29		ENSG00000115750	ENSG00000115750			11533	protein-coding gene	gene with protein product		604904	"TATA box binding protein (TBP)-associated factor, RNA polymerase I, B, 63kD"			7801123	Standard	NM_005680		Approved	TAFI63, SL1, RAF1B, RAFI63	uc002qzz.3	Q53T94	OTTHUMG00000151673	ENST00000263663.5:c.801T>C	2.37:g.10022928T>C						TAF1B_ENST00000396242.3_Silent_p.G12G	p.G267G	NM_005680.2	NP_005671.2	Q53T94	TAF1B_HUMAN			8	989	+	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		267					B4DI42|F8WD72|Q15574|Q8WVC3	Silent	SNP	ENST00000263663.5	37	c.801T>C	CCDS33143.1																																																																																				0.323	TAF1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323426.2	NM_005680		23	34	0	0	0	1	0	23	34					C	10022928	T	C	10022928	2	2	435	1	0	0	0	0	0	0	0	1	15517	1625	57	4		4	TAF1B	2	10022928	Silent	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	291408	10022928	233176445	978	21903											
CYS1	192668	broad.mit.edu	37	chr2	10199026	10199026	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcgccatcagcccctcttccGagtggtcgtaggagatggct	6	10	12	13	3	2	1	1	0	1	1	5	3	3	1	4	3	1	2	4	3	1	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:10199026G>A	ENST00000381813.4	-	3	618	c.431C>T	c.(430-432)tCg>tTg	p.S144L	CYS1_ENST00000477304.1_5'UTR	NM_001037160.2	NP_001032237.1	Q717R9	CYS1_HUMAN	cystin 1	144						cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)				large_intestine(1)	1	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.166)|OV - Ovarian serous cystadenocarcinoma(76;0.227)		CCCCTCTTCCGAGTGGTCGTA	0.672																																						ENST00000381813.4																			0				large_intestine(1)	1						c.(430-432)tCg>tTg		cystin 1							26	25	25					2																	10199026		2200	4299	6499	SO:0001583	missense	192668					cilium axoneme		g.chr2:10199026G>A	AF544983, AA446394	CCDS33145.1	2p25.1	2012-10-02			ENSG00000205795	ENSG00000205795			18525	protein-coding gene	gene with protein product						12733055, 11854326	Standard	NM_001037160		Approved		uc002rag.2	Q717R9	OTTHUMG00000151703	ENST00000381813.4:c.431C>T	2.37:g.10199026G>A	ENSP00000371234:p.Ser144Leu					CYS1_ENST00000477304.1_5'UTR	p.S144L	NM_001037160.2	NP_001032237.1	Q717R9	CYS1_HUMAN		Epithelial(75;0.166)|OV - Ovarian serous cystadenocarcinoma(76;0.227)	3	618	-	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		144						Missense_Mutation	SNP	ENST00000381813.4	37	c.431C>T	CCDS33145.1	.	.	.	.	.	.	.	.	.	.	G	17.69	3.451301	0.63290	.	.	ENSG00000205795	ENST00000381813	.	.	.	5.41	5.41	0.78517	.	.	.	.	.	T	0.25644	0.0624	N	0.14661	0.345	0.09310	N	1	P	0.43352	0.804	B	0.36766	0.232	T	0.23084	-1.0198	8	0.66056	D	0.02	.	17.3543	0.87331	0.0:0.0:1.0:0.0	.	144	Q717R9	CYS1_HUMAN	L	144	.	ENSP00000371234:S144L	S	-	2	0	CYS1	10116477	0.831000	0.29352	0.005000	0.12908	0.738000	0.42128	6.368000	0.73104	2.517000	0.84864	0.561000	0.74099	TCG		0.672	CYS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323537.1			7	7	0	0	0	1	0	7	7					A	10199026	G	A	10199026	3	1	435	1	0	0	0	0	1	0	0	0	4200	1059	37	2	49	2	CYS1	2	10199026	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	176098	10199026	233000347	979	21904											
RRM2	6241	broad.mit.edu	37	chr2	10267220	10267220	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taactcctaaataggtgaacGtgttgtagcctttgctgcag	10	13	10	8	1	0	1	0	1	0	0	1	1	1	1	2	1	5	4	2	1	6	6			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:10267220G>A	ENST00000304567.5	+	7	740	c.671G>A	c.(670-672)cGt>cAt	p.R224H	RRM2_ENST00000360566.2_Missense_Mutation_p.R284H	NM_001034.3	NP_001025.1	P31350	RIR2_HUMAN	ribonucleotide reductase M2	224					deoxyribonucleoside diphosphate metabolic process (GO:0009186)|deoxyribonucleotide biosynthetic process (GO:0009263)|DNA replication (GO:0006260)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|nucleobase-containing small molecule interconversion (GO:0015949)|nucleobase-containing small molecule metabolic process (GO:0055086)|protein heterotetramerization (GO:0051290)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|ribonucleoside-diphosphate reductase activity, thioredoxin disulfide as acceptor (GO:0004748)	p.R284H(1)|p.R224H(1)		NS(1)|breast(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(7)|skin(1)	19	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.188)|OV - Ovarian serous cystadenocarcinoma(76;0.221)	Cladribine(DB00242)|Gallium nitrate(DB05260)	ATAGGTGAACGTGTTGTAGCC	0.423																																						ENST00000360566.2																			2	Substitution - Missense(2)	p.R284H(1)|p.R224H(1)	lung(2)	NS(1)|breast(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(7)|skin(1)	19						c.(850-852)cGt>cAt		ribonucleotide reductase M2							237	210	219					2																	10267220		2203	4300	6503	SO:0001583	missense	6241				deoxyribonucleoside diphosphate metabolic process|deoxyribonucleotide biosynthetic process|DNA replication|nucleobase, nucleoside and nucleotide interconversion|regulation of transcription involved in G1/S phase of mitotic cell cycle	cytosol	ribonucleoside-diphosphate reductase activity|transition metal ion binding	g.chr2:10267220G>A		CCDS1669.1, CCDS54334.1	2p25-p24	2012-10-02	2009-07-10		ENSG00000171848	ENSG00000171848	1.17.4.1		10452	protein-coding gene	gene with protein product		180390	"ribonucleotide reductase M2 polypeptide"				Standard	NM_001034		Approved		uc021vdr.1	P31350	OTTHUMG00000090449	ENST00000304567.5:c.671G>A	2.37:g.10267220G>A	ENSP00000302955:p.Arg224His					RRM2_ENST00000304567.5_Missense_Mutation_p.R224H	p.R284H	NM_001165931.1	NP_001159403.1	P31350	RIR2_HUMAN		Epithelial(75;0.188)|OV - Ovarian serous cystadenocarcinoma(76;0.221)	7	1142	+	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		224					B2R9B5|J3KP43|Q5WRU7	Missense_Mutation	SNP	ENST00000304567.5	37	c.851G>A	CCDS1669.1	.	.	.	.	.	.	.	.	.	.	G	30	5.054212	0.93793	.	.	ENSG00000171848	ENST00000360566;ENST00000304567;ENST00000474701	D;D;D	0.97994	-4.65;-4.65;-4.65	5.19	5.19	0.71726	Ferritin/ribonucleotide reductase-like (1);Ribonucleotide reductase-related (1);	0.000000	0.85682	D	0.000000	D	0.99441	0.9802	H	0.99650	4.68	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.97907	1.0306	10	0.87932	D	0	-5.0336	18.72	0.91689	0.0:0.0:1.0:0.0	.	224	P31350	RIR2_HUMAN	H	284;224;174	ENSP00000353770:R284H;ENSP00000302955:R224H;ENSP00000419177:R174H	ENSP00000302955:R224H	R	+	2	0	RRM2	10184671	1.000000	0.71417	0.941000	0.38009	0.819000	0.46315	9.734000	0.98822	2.422000	0.82143	0.650000	0.86243	CGT		0.423	RRM2-013	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364902.2			47	94	0	0	0	1	0	47	94					A	10267220	G	A	10267220	3	1	435	1	0	0	0	0	1	0	0	0	13682	1145	40	1	877	1	RRM2	2	10267220	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	68194	10267220	232932153	980	21905											
ODC1	4953	broad.mit.edu	37	chr2	10584237	10584237	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcactttgctttgggatgtgCtctggcaactttcatcaact	7	16	8	10	0	4	0	3	0	1	0	4	1	4	1	0	2	4	3	0	2	2	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:10584237C>T	ENST00000234111.4	-	5	943	c.433G>A	c.(433-435)Gca>Aca	p.A145T	ODC1_ENST00000446285.1_5'UTR|ODC1_ENST00000405333.1_Missense_Mutation_p.A145T|SNORA80B_ENST00000383906.1_RNA	NM_002539.1	NP_002530.1	P11926	DCOR_HUMAN	ornithine decarboxylase 1	145					cellular nitrogen compound metabolic process (GO:0034641)|kidney development (GO:0001822)|polyamine metabolic process (GO:0006595)|positive regulation of cell proliferation (GO:0008284)|putrescine biosynthetic process from ornithine (GO:0033387)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of protein catabolic process (GO:0042176)|response to virus (GO:0009615)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ornithine decarboxylase activity (GO:0004586)|protein homodimerization activity (GO:0042803)			NS(1)|central_nervous_system(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(1)|skin(3)	19	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.11)|OV - Ovarian serous cystadenocarcinoma(76;0.161)	Spermine(DB00127)	TTGGGATGTGCTCTGGCAACT	0.363																																						ENST00000234111.4																			0				NS(1)|central_nervous_system(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(1)|skin(3)	19						c.(433-435)Gca>Aca		ornithine decarboxylase 1	Pyridoxal Phosphate(DB00114)|Spermine(DB00127)						230	242	238					2																	10584237		2203	4300	6503	SO:0001583	missense	4953				polyamine biosynthetic process|regulation of cellular amino acid metabolic process|response to virus	cytosol	ornithine decarboxylase activity|protein binding	g.chr2:10584237C>T		CCDS1672.1	2p25	2012-10-02			ENSG00000115758	ENSG00000115758	4.1.1.17		8109	protein-coding gene	gene with protein product		165640					Standard	NM_002539		Approved	ODC	uc002rao.1	P11926	OTTHUMG00000090450	ENST00000234111.4:c.433G>A	2.37:g.10584237C>T	ENSP00000234111:p.Ala145Thr					ODC1_ENST00000405333.1_Missense_Mutation_p.A145T|ODC1_ENST00000446285.1_5'UTR	p.A145T	NM_002539.1	NP_002530.1	P11926	DCOR_HUMAN		Epithelial(75;0.11)|OV - Ovarian serous cystadenocarcinoma(76;0.161)	5	943	-	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		145					Q53TU3|Q6LDS9	Missense_Mutation	SNP	ENST00000234111.4	37	c.433G>A	CCDS1672.1	.	.	.	.	.	.	.	.	.	.	C	12.33	1.906105	0.33628	.	.	ENSG00000115758	ENST00000234111;ENST00000405333;ENST00000537630	T;T	0.47869	0.83;0.83	5.37	4.49	0.54785	Orn/DAP/Arg decarboxylase 2, N-terminal (1);	0.333481	0.37761	N	0.001948	T	0.40372	0.1114	L	0.49571	1.57	0.42178	D	0.991672	B	0.15141	0.012	B	0.25884	0.064	T	0.21759	-1.0236	10	0.22706	T	0.39	.	9.0197	0.36193	0.1485:0.778:0.0:0.0735	.	145	P11926	DCOR_HUMAN	T	145;145;16	ENSP00000234111:A145T;ENSP00000385333:A145T	ENSP00000234111:A145T	A	-	1	0	ODC1	10501688	1.000000	0.71417	0.999000	0.59377	0.885000	0.51271	4.714000	0.61902	1.247000	0.43917	0.655000	0.94253	GCA		0.363	ODC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206896.2			99	134	0	0	0	1	0	99	134					T	10584237	C	T	10584237	3	4	435	1	0	0	0	0	1	0	0	0	10825	797	28	3	984	3	ODC1	2	10584237	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	317017	10584237	232615136	981	21906											
NOL10	79954	broad.mit.edu	37	chr2	10729320	10729320	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctcctgctggaggagtctgcGttgcttcctgacctcttcaa	5	13	10	13	1	3	1	1	1	2	0	5	3	5	3	3	2	3	3	3	2	1	3	rs546811374		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:10729320G>A	ENST00000381685.5	-	19	1798	c.1693C>T	c.(1693-1695)Cgc>Tgc	p.R565C	NOL10_ENST00000538384.1_Missense_Mutation_p.R539C|NOL10_ENST00000345985.3_Missense_Mutation_p.R515C|AC092687.5_ENST00000414538.1_RNA|NOL10_ENST00000542668.1_Missense_Mutation_p.R515C	NM_024894.3	NP_079170.2	Q9BSC4	NOL10_HUMAN	nucleolar protein 10	565						nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)					Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.172)|OV - Ovarian serous cystadenocarcinoma(76;0.207)		AGGAGTCTGCGTTGCTTCCTG	0.507													G|||	1	0.000199681	0	0	5008	,	,		19212	0.001		0	False		,,,				2504	0					ENST00000345985.3																			0											c.(1543-1545)Cgc>Tgc		nucleolar protein 10							155	155	155					2																	10729320		2203	4300	6503	SO:0001583	missense	79954					nucleolus		g.chr2:10729320G>A	AK024137	CCDS1673.2, CCDS58697.1, CCDS58698.1	2p25.1	2008-05-23			ENSG00000115761	ENSG00000115761			25862	protein-coding gene	gene with protein product			"polyglutamine binding protein 5"	PQBP5		12477932	Standard	NM_024894		Approved	FLJ14075	uc002raq.3	Q9BSC4	OTTHUMG00000119023	ENST00000381685.5:c.1693C>T	2.37:g.10729320G>A	ENSP00000371101:p.Arg565Cys					NOL10_ENST00000381685.5_Missense_Mutation_p.R565C|AC092687.5_ENST00000414538.1_RNA|NOL10_ENST00000538384.1_Missense_Mutation_p.R539C|NOL10_ENST00000542668.1_Missense_Mutation_p.R515C	p.R515C	NM_001261394.1	NP_001248323.1	Q9BSC4	NOL10_HUMAN		Epithelial(75;0.172)|OV - Ovarian serous cystadenocarcinoma(76;0.207)	18	1653	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)		565					A8K3R5|B4DLV0|Q53RC9|Q96TA5|Q9H7Y7|Q9H855	Missense_Mutation	SNP	ENST00000381685.5	37	c.1543C>T	CCDS1673.2	.	.	.	.	.	.	.	.	.	.	G	28.4	4.912845	0.92178	.	.	ENSG00000115761	ENST00000345985;ENST00000381685;ENST00000542668;ENST00000538384	T;T;T;T	0.46819	0.86;2.07;1.46;2.07	5.35	5.35	0.76521	.	0.045875	0.85682	D	0.000000	T	0.63546	0.2520	M	0.63428	1.95	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.999	P;P;P	0.57960	0.735;0.735;0.83	T	0.64089	-0.6489	10	0.52906	T	0.07	-2.6116	19.4317	0.94772	0.0:0.0:1.0:0.0	.	539;565;515	B4DLV0;Q9BSC4;Q9BSC4-2	.;NOL10_HUMAN;.	C	515;565;515;539	ENSP00000263837:R515C;ENSP00000371101:R565C;ENSP00000437625:R515C;ENSP00000439663:R539C	ENSP00000263837:R515C	R	-	1	0	NOL10	10646771	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	9.174000	0.94824	2.668000	0.90789	0.591000	0.81541	CGC		0.507	NOL10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239227.1	NM_024894		19	48	0	0	0	1	0	19	48					A	10729320	G	A	10729320	3	1	435	1	0	0	0	0	1	0	0	0	10520	1145	40	1	385	1	NOL10	2	10729320	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	145083	10729320	232470053	982	21907											
KCNF1	3754	broad.mit.edu	37	chr2	11052805	11052805	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actttgacagggacccggacGccttcaagtgtgtcatcgag	9	9	12	11	3	2	1	2	1	0	0	3	4	2	3	2	2	0	0	2	2	1	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:11052805G>A	ENST00000295082.1	+	1	743	c.253G>A	c.(253-255)Gcc>Acc	p.A85T		NM_002236.4	NP_002227.2	Q9H3M0	KCNF1_HUMAN	potassium voltage-gated channel, subfamily F, member 1	85					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)			NS(1)|endometrium(2)|large_intestine(2)|lung(10)|ovary(2)|skin(1)|urinary_tract(1)	19	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.128)		GGACCCGGACGCCTTCAAGTG	0.562																																						ENST00000295082.1																			0				NS(1)|endometrium(2)|large_intestine(2)|lung(10)|ovary(2)|skin(1)|urinary_tract(1)	19						c.(253-255)Gcc>Acc		potassium voltage-gated channel, subfamily F, member 1							54	58	56					2																	11052805		2203	4300	6503	SO:0001583	missense	3754					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr2:11052805G>A	AF033382	CCDS1676.1	2p25	2011-07-05			ENSG00000162975	ENSG00000162975		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6246	protein-coding gene	gene with protein product		603787		KCNF		9434767, 16382104	Standard	NM_002236		Approved	Kv5.1, kH1, IK8	uc002rax.3	Q9H3M0	OTTHUMG00000119054	ENST00000295082.1:c.253G>A	2.37:g.11052805G>A	ENSP00000295082:p.Ala85Thr						p.A85T	NM_002236.4	NP_002227.2	Q9H3M0	KCNF1_HUMAN		Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.128)	1	743	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)		85					O43527|Q585L3	Missense_Mutation	SNP	ENST00000295082.1	37	c.253G>A	CCDS1676.1	.	.	.	.	.	.	.	.	.	.	G	15.45	2.835964	0.50951	.	.	ENSG00000162975	ENST00000295082	D	0.94184	-3.37	4.89	4.89	0.63831	BTB/POZ-like (1);BTB/POZ fold (2);Potassium channel, voltage dependent, Kv, tetramerisation (1);	0.053703	0.64402	D	0.000001	D	0.93387	0.7891	M	0.69463	2.115	0.58432	D	0.999994	P	0.51351	0.944	P	0.46208	0.507	D	0.92695	0.6170	10	0.33940	T	0.23	.	18.4189	0.90582	0.0:0.0:1.0:0.0	.	85	Q9H3M0	KCNF1_HUMAN	T	85	ENSP00000295082:A85T	ENSP00000295082:A85T	A	+	1	0	KCNF1	10970256	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	6.341000	0.72977	2.407000	0.81776	0.563000	0.77884	GCC		0.562	KCNF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239265.1	NM_002236		18	20	0	0	0	1	0	18	20					A	11052805	G	A	11052805	3	1	435	1	0	0	0	0	1	0	0	0	8026	1087	38	1	255	1	KCNF1	2	11052805	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	323485	11052805	232146568	983	21908											
KCNF1	3754	broad.mit.edu	37	chr2	11052975	11052975	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cgcgaggagctggaggagatCgcgcgccgcgtgcagctcat	7	5	17	12	7	1	1	1	0	0	1	2	5	1	3	1	3	3	3	1	3	0	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:11052975C>T	ENST00000295082.1	+	1	913	c.423C>T	c.(421-423)atC>atT	p.I141I		NM_002236.4	NP_002227.2	Q9H3M0	KCNF1_HUMAN	potassium voltage-gated channel, subfamily F, member 1	141					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)			NS(1)|endometrium(2)|large_intestine(2)|lung(10)|ovary(2)|skin(1)|urinary_tract(1)	19	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.128)		TGGAGGAGATCGCGCGCCGCG	0.637																																						ENST00000295082.1																			0				NS(1)|endometrium(2)|large_intestine(2)|lung(10)|ovary(2)|skin(1)|urinary_tract(1)	19						c.(421-423)atC>atT		potassium voltage-gated channel, subfamily F, member 1							42	48	46					2																	11052975		2203	4300	6503	SO:0001819	synonymous_variant	3754					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr2:11052975C>T	AF033382	CCDS1676.1	2p25	2011-07-05			ENSG00000162975	ENSG00000162975		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6246	protein-coding gene	gene with protein product		603787		KCNF		9434767, 16382104	Standard	NM_002236		Approved	Kv5.1, kH1, IK8	uc002rax.3	Q9H3M0	OTTHUMG00000119054	ENST00000295082.1:c.423C>T	2.37:g.11052975C>T							p.I141I	NM_002236.4	NP_002227.2	Q9H3M0	KCNF1_HUMAN		Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.128)	1	913	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)		141					O43527|Q585L3	Silent	SNP	ENST00000295082.1	37	c.423C>T	CCDS1676.1																																																																																				0.637	KCNF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239265.1	NM_002236		14	15	0	0	0	1	0	14	15					T	11052975	C	T	11052975	2	4	435	1	0	0	0	0	0	0	0	1	8026	874	31	2		2	KCNF1	2	11052975	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	170	11052975	232146398	984	21909											
ROCK2	9475	broad.mit.edu	37	chr2	11376008	11376008	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcaggcacatcataattactCataaggtttacaaggtctcc	13	12	6	10	0	4	0	3	0	1	0	5	0	4	0	1	3	2	2	1	3	5	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:11376008C>T	ENST00000315872.6	-	5	991	c.543G>A	c.(541-543)atG>atA	p.M181I	ROCK2_ENST00000462366.1_5'Flank|RNU6-1081P_ENST00000384537.1_RNA|ROCK2_ENST00000401753.1_5'Flank	NM_004850.3	NP_004841.2	O75116	ROCK2_HUMAN	Rho-associated, coiled-coil containing protein kinase 2	181	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				actin cytoskeleton organization (GO:0030036)|axon guidance (GO:0007411)|centrosome duplication (GO:0051298)|cytokinesis (GO:0000910)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|intracellular signal transduction (GO:0035556)|negative regulation of angiogenesis (GO:0016525)|neural tube closure (GO:0001843)|positive regulation of centrosome duplication (GO:0010825)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell adhesion (GO:0030155)|regulation of cell motility (GO:2000145)|regulation of circadian rhythm (GO:0042752)|regulation of establishment of cell polarity (GO:2000114)|regulation of focal adhesion assembly (GO:0051893)|regulation of keratinocyte differentiation (GO:0045616)|regulation of stress fiber assembly (GO:0051492)|rhythmic process (GO:0048511)|smooth muscle contraction (GO:0006939)	centrosome (GO:0005813)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle pole centrosome (GO:0031616)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|protein serine/threonine kinase activity (GO:0004674)|structural molecule activity (GO:0005198)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(6)|lung(10)|prostate(1)|skin(4)|stomach(3)|urinary_tract(2)	43	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.137)|OV - Ovarian serous cystadenocarcinoma(76;0.162)		CATAATTACTCATAAGGTTTA	0.388																																						ENST00000315872.6																			0				breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(6)|lung(10)|prostate(1)|skin(4)|stomach(3)|urinary_tract(2)	43						c.(541-543)atG>atA		Rho-associated, coiled-coil containing protein kinase 2							122	119	120					2																	11376008		2074	4242	6316	SO:0001583	missense	9475				axon guidance|cytokinesis|intracellular signal transduction	cytosol|plasma membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|structural molecule activity	g.chr2:11376008C>T	D87931	CCDS42654.1	2p24	2013-01-10			ENSG00000134318	ENSG00000134318	2.7.11.1	"Pleckstrin homology (PH) domain containing"	10252	protein-coding gene	gene with protein product		604002				9933571	Standard	NM_004850		Approved		uc002rbd.1	O75116	OTTHUMG00000149916	ENST00000315872.6:c.543G>A	2.37:g.11376008C>T	ENSP00000317985:p.Met181Ile						p.M181I	NM_004850.3	NP_004841.2	O75116	ROCK2_HUMAN		Epithelial(75;0.137)|OV - Ovarian serous cystadenocarcinoma(76;0.162)	5	991	-	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		181			Protein kinase.		Q53QZ0|Q53SJ7|Q9UQN5	Missense_Mutation	SNP	ENST00000315872.6	37	c.543G>A	CCDS42654.1	.	.	.	.	.	.	.	.	.	.	C	25.0	4.593002	0.86953	.	.	ENSG00000134318	ENST00000315872	T	0.60040	0.22	5.98	5.98	0.97165	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.043881	0.85682	D	0.000000	T	0.51534	0.1680	N	0.02960	-0.455	0.80722	D	1	P	0.51057	0.941	P	0.54544	0.755	T	0.65026	-0.6268	10	0.66056	D	0.02	.	20.4561	0.99145	0.0:1.0:0.0:0.0	.	181	O75116	ROCK2_HUMAN	I	181	ENSP00000317985:M181I	ENSP00000261535:M181I	M	-	3	0	ROCK2	11293459	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.569000	0.36428	2.847000	0.97988	0.591000	0.81541	ATG		0.388	ROCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313886.3			30	49	0	0	0	1	0	30	49					T	11376008	C	T	11376008	3	4	435	1	0	0	0	0	1	0	0	0	13518	826	29	3	3739	3	ROCK2	2	11376008	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	323033	11376008	231823365	985	21910											
GREB1	9687	broad.mit.edu	37	chr2	11772057	11772057	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatgaatatataaaaagtcCgacattcactccaaccaccg	16	8	4	13	2	1	1	1	1	0	0	3	2	3	1	5	0	1	0	5	0	7	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:11772057C>T	ENST00000381486.2	+	27	4934	c.4634C>T	c.(4633-4635)cCg>cTg	p.P1545L	GREB1_ENST00000396123.1_Missense_Mutation_p.P543L|GREB1_ENST00000234142.5_Missense_Mutation_p.P1545L	NM_014668.3	NP_055483.2	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	1545						integral component of membrane (GO:0016021)				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		ATAAAAAGTCCGACATTCACT	0.463																																					Ovarian(39;850 945 2785 23371 33093)	ENST00000381486.2																			0				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30						c.(4633-4635)cCg>cTg		growth regulation by estrogen in breast cancer 1							91	86	88					2																	11772057		1891	4112	6003	SO:0001583	missense	9687					integral to membrane		g.chr2:11772057C>T		CCDS33146.1, CCDS33147.1, CCDS42655.1	2p25.1	2010-02-17	2009-09-10		ENSG00000196208	ENSG00000196208			24885	protein-coding gene	gene with protein product	"gene regulated by estrogen in breast cancer"	611736				11103799	Standard	NM_014668		Approved	KIAA0575	uc002rbk.1	Q4ZG55	OTTHUMG00000141276	ENST00000381486.2:c.4634C>T	2.37:g.11772057C>T	ENSP00000370896:p.Pro1545Leu					GREB1_ENST00000234142.5_Missense_Mutation_p.P1545L|GREB1_ENST00000396123.1_Missense_Mutation_p.P543L	p.P1545L	NM_014668.3	NP_055483.2	Q4ZG55	GREB1_HUMAN		Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)	27	4934	+	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		1545					A6NHD0|A6NKN0|B5MDA9|O60321|Q7Z5S2|Q9H2Q6|Q9H2Q7|Q9H2Q8	Missense_Mutation	SNP	ENST00000381486.2	37	c.4634C>T	CCDS42655.1	.	.	.	.	.	.	.	.	.	.	C	18.27	3.586422	0.66105	.	.	ENSG00000196208	ENST00000381486;ENST00000234142;ENST00000396123	T;T;T	0.53423	0.62;0.62;0.62	5.48	5.48	0.80851	.	0.000000	0.85682	D	0.000000	T	0.70579	0.3240	M	0.74647	2.275	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	T	0.73610	-0.3928	10	0.87932	D	0	-29.1814	19.3358	0.94319	0.0:1.0:0.0:0.0	.	1545	Q4ZG55	GREB1_HUMAN	L	1545;1545;543	ENSP00000370896:P1545L;ENSP00000234142:P1545L;ENSP00000379429:P543L	ENSP00000234142:P1545L	P	+	2	0	GREB1	11689508	1.000000	0.71417	0.862000	0.33874	0.071000	0.16799	7.385000	0.79763	2.573000	0.86826	0.557000	0.71058	CCG		0.463	GREB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280490.1	NM_014668		15	30	0	0	0	1	0	15	30					T	11772057	C	T	11772057	3	4	435	1	0	0	0	0	1	0	0	0	6760	652	23	2	4844	2	GREB1	2	11772057	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	396049	11772057	231427316	986	21911											
NTSR2	23620	broad.mit.edu	37	chr2	11798758	11798758	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tttctgaaggaggaggacacGgcgttgtagagaagaggagt	12	8	17	4	2	1	3	0	1	1	2	1	8	1	7	0	5	0	2	0	5	3	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:11798758G>A	ENST00000306928.5	-	4	1114	c.1080C>T	c.(1078-1080)gcC>gcT	p.A360A		NM_012344.3	NP_036476	O95665	NTR2_HUMAN	neurotensin receptor 2	360					cell surface receptor signaling pathway (GO:0007166)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|regulation of membrane potential (GO:0042391)|sensory perception (GO:0007600)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled neurotensin receptor activity (GO:0016492)|G-protein coupled receptor activity (GO:0004930)			breast(1)|large_intestine(7)|lung(7)|prostate(1)|urinary_tract(1)	17	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.129)|OV - Ovarian serous cystadenocarcinoma(76;0.24)	Levocabastine(DB01106)	AGGAGGACACGGCGTTGTAGA	0.537																																						ENST00000306928.5																			0				breast(1)|large_intestine(7)|lung(7)|prostate(1)|urinary_tract(1)	17						c.(1078-1080)gcC>gcT		neurotensin receptor 2	Levocabastine(DB01106)						94	94	94					2																	11798758		2203	4300	6503	SO:0001819	synonymous_variant	23620				sensory perception	integral to plasma membrane		g.chr2:11798758G>A	Y10148	CCDS1681.1	2p25.1	2012-08-08			ENSG00000169006	ENSG00000169006		"GPCR / Class A : Neurotensin receptors"	8040	protein-coding gene	gene with protein product		605538				8647296, 9851594	Standard	NM_012344		Approved	NTR2	uc002rbq.4	O95665	OTTHUMG00000119083	ENST00000306928.5:c.1080C>T	2.37:g.11798758G>A							p.A360A	NM_012344.3	NP_036476.1	O95665	NTR2_HUMAN		Epithelial(75;0.129)|OV - Ovarian serous cystadenocarcinoma(76;0.24)	4	1114	-	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		360					Q53QQ5|Q57Z87|Q8IY58|Q8TBH6	Silent	SNP	ENST00000306928.5	37	c.1080C>T	CCDS1681.1																																																																																				0.537	NTSR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239297.1			3	36	0	0	0	1	0	3	36					A	11798758	G	A	11798758	2	1	435	1	0	0	0	0	0	0	0	1	10711	1103	39	2		2	NTSR2	2	11798758	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	26701	11798758	231400615	987	21912											
NTSR2	23620	broad.mit.edu	37	chr2	11802117	11802117	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aacctggacgctgcgctggaGgctgcggatccggcgcacgt	6	6	16	13	6	0	0	0	0	0	0	1	3	1	3	2	5	3	4	2	5	1	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:11802117G>T	ENST00000306928.5	-	2	908	c.874C>A	c.(874-876)Ctc>Atc	p.L292I		NM_012344.3	NP_036476	O95665	NTR2_HUMAN	neurotensin receptor 2	292					cell surface receptor signaling pathway (GO:0007166)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|regulation of membrane potential (GO:0042391)|sensory perception (GO:0007600)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled neurotensin receptor activity (GO:0016492)|G-protein coupled receptor activity (GO:0004930)			breast(1)|large_intestine(7)|lung(7)|prostate(1)|urinary_tract(1)	17	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.129)|OV - Ovarian serous cystadenocarcinoma(76;0.24)	Levocabastine(DB01106)	CTGCGCTGGAGGCTGCGGATC	0.582																																						ENST00000306928.5																			0				breast(1)|large_intestine(7)|lung(7)|prostate(1)|urinary_tract(1)	17						c.(874-876)Ctc>Atc		neurotensin receptor 2	Levocabastine(DB01106)						68	73	71					2																	11802117		2203	4300	6503	SO:0001583	missense	23620				sensory perception	integral to plasma membrane		g.chr2:11802117G>T	Y10148	CCDS1681.1	2p25.1	2012-08-08			ENSG00000169006	ENSG00000169006		"GPCR / Class A : Neurotensin receptors"	8040	protein-coding gene	gene with protein product		605538				8647296, 9851594	Standard	NM_012344		Approved	NTR2	uc002rbq.4	O95665	OTTHUMG00000119083	ENST00000306928.5:c.874C>A	2.37:g.11802117G>T	ENSP00000303686:p.Leu292Ile						p.L292I	NM_012344.3	NP_036476.1	O95665	NTR2_HUMAN		Epithelial(75;0.129)|OV - Ovarian serous cystadenocarcinoma(76;0.24)	2	908	-	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		292					Q53QQ5|Q57Z87|Q8IY58|Q8TBH6	Missense_Mutation	SNP	ENST00000306928.5	37	c.874C>A	CCDS1681.1	.	.	.	.	.	.	.	.	.	.	G	17.01	3.280010	0.59758	.	.	ENSG00000169006	ENST00000306928	T	0.72051	-0.62	4.31	3.41	0.39046	GPCR, rhodopsin-like superfamily (1);	0.000000	0.39759	N	0.001270	T	0.76205	0.3955	L	0.46614	1.455	0.27657	N	0.947215	D	0.69078	0.997	D	0.81914	0.995	T	0.66709	-0.5855	10	0.39692	T	0.17	-24.7179	10.0138	0.42003	0.0:0.0:0.7971:0.2029	.	292	O95665	NTR2_HUMAN	I	292	ENSP00000303686:L292I	ENSP00000303686:L292I	L	-	1	0	NTSR2	11719568	1.000000	0.71417	0.959000	0.39883	0.947000	0.59692	4.047000	0.57383	1.076000	0.40961	0.455000	0.32223	CTC		0.582	NTSR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239297.1			18	52	1	0	1.15919e-05	1	1.19923e-05	18	52					T	11802117	G	T	11802117	3	4	435	1	0	0	0	0	1	0	0	0	10711	1000	35	5	370	5	NTSR2	2	11802117	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	3359	11802117	231397256	988	21913											
NTSR2	23620	broad.mit.edu	37	chr2	11809657	11809657	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	taaagacttggagcgcggtgCggctcaccagcaccgtgcac	9	6	13	13	4	1	1	1	0	0	1	1	2	1	2	2	3	4	3	2	3	2	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:11809657C>T	ENST00000306928.5	-	1	633	c.599G>A	c.(598-600)cGc>cAc	p.R200H		NM_012344.3	NP_036476	O95665	NTR2_HUMAN	neurotensin receptor 2	200					cell surface receptor signaling pathway (GO:0007166)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|regulation of membrane potential (GO:0042391)|sensory perception (GO:0007600)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled neurotensin receptor activity (GO:0016492)|G-protein coupled receptor activity (GO:0004930)			breast(1)|large_intestine(7)|lung(7)|prostate(1)|urinary_tract(1)	17	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.129)|OV - Ovarian serous cystadenocarcinoma(76;0.24)	Levocabastine(DB01106)	GAGCGCGGTGCGGCTCACCAG	0.711																																						ENST00000306928.5																			0				breast(1)|large_intestine(7)|lung(7)|prostate(1)|urinary_tract(1)	17						c.(598-600)cGc>cAc		neurotensin receptor 2	Levocabastine(DB01106)						11	13	12					2																	11809657		1739	3450	5189	SO:0001583	missense	23620				sensory perception	integral to plasma membrane		g.chr2:11809657C>T	Y10148	CCDS1681.1	2p25.1	2012-08-08			ENSG00000169006	ENSG00000169006		"GPCR / Class A : Neurotensin receptors"	8040	protein-coding gene	gene with protein product		605538				8647296, 9851594	Standard	NM_012344		Approved	NTR2	uc002rbq.4	O95665	OTTHUMG00000119083	ENST00000306928.5:c.599G>A	2.37:g.11809657C>T	ENSP00000303686:p.Arg200His						p.R200H	NM_012344.3	NP_036476.1	O95665	NTR2_HUMAN		Epithelial(75;0.129)|OV - Ovarian serous cystadenocarcinoma(76;0.24)	1	633	-	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		200					Q53QQ5|Q57Z87|Q8IY58|Q8TBH6	Missense_Mutation	SNP	ENST00000306928.5	37	c.599G>A	CCDS1681.1	.	.	.	.	.	.	.	.	.	.	C	13.42	2.233110	0.39498	.	.	ENSG00000169006	ENST00000306928	T	0.71579	-0.58	3.51	1.6	0.23607	GPCR, rhodopsin-like superfamily (1);	0.572340	0.14784	N	0.298638	T	0.77123	0.4084	L	0.52759	1.655	0.09310	N	1	D	0.89917	1.0	D	0.68353	0.957	T	0.66284	-0.5962	10	0.46703	T	0.11	-21.7789	11.3201	0.49417	0.0:0.4385:0.5615:0.0	.	200	O95665	NTR2_HUMAN	H	200	ENSP00000303686:R200H	ENSP00000303686:R200H	R	-	2	0	NTSR2	11727108	0.002000	0.14202	0.720000	0.30636	0.340000	0.28889	0.256000	0.18351	0.432000	0.26286	-0.315000	0.08773	CGC		0.711	NTSR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239297.1			5	9	0	0	0	1	0	5	9					T	11809657	C	T	11809657	3	4	435	1	0	0	0	0	1	0	0	0	10711	768	27	1	649	1	NTSR2	2	11809657	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	7540	11809657	231389716	989	21914											
LPIN1	23175	broad.mit.edu	37	chr2	11905843	11905843	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgggaagatgggggtcctgcGctcccgagagaaagtggtga	9	7	18	7	2	0	3	0	1	0	2	2	6	2	4	2	4	1	1	2	4	2	0	rs140179571		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:11905843G>A	ENST00000256720.2	+	2	269	c.176G>A	c.(175-177)cGc>cAc	p.R59H	MIR548S_ENST00000581352.1_RNA|LPIN1_ENST00000396098.1_Missense_Mutation_p.R65H|LPIN1_ENST00000396099.1_Missense_Mutation_p.R65H|LPIN1_ENST00000449576.2_Missense_Mutation_p.R108H|LPIN1_ENST00000425416.2_Missense_Mutation_p.R65H	NM_145693.2	NP_663731.1	Q14693	LPIN1_HUMAN	lipin 1	59	N-LIP.				cellular lipid metabolic process (GO:0044255)|fatty acid catabolic process (GO:0009062)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid metabolic process (GO:0006644)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|triglyceride biosynthetic process (GO:0019432)|triglyceride mobilization (GO:0006642)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	phosphatidate phosphatase activity (GO:0008195)	p.R59H(1)		autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(15)|liver(1)|lung(10)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	45	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.11)|OV - Ovarian serous cystadenocarcinoma(76;0.173)		GGGGTCCTGCGCTCCCGAGAG	0.572																																						ENST00000256720.2																			1	Substitution - Missense(1)	p.R59H(1)	large_intestine(1)	autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(15)|liver(1)|lung(10)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	45						c.(175-177)cGc>cAc		lipin 1		G	HIS/ARG	2,4404	4.2+/-10.8	0,2,2201	80	74	76		176	4.9	1	2	dbSNP_134	76	2,8598	2.2+/-6.3	0,2,4298	yes	missense	LPIN1	NM_145693.1	29	0,4,6499	AA,AG,GG		0.0233,0.0454,0.0308	probably-damaging	59/891	11905843	4,13002	2203	4300	6503	SO:0001583	missense	23175				fatty acid catabolic process|transcription, DNA-dependent|triglyceride biosynthetic process|triglyceride mobilization	cytosol|endoplasmic reticulum membrane	phosphatidate phosphatase activity	g.chr2:11905843G>A	D80010	CCDS1682.1, CCDS58699.1, CCDS58700.1, CCDS58701.1	2p25.1	2008-05-23			ENSG00000134324	ENSG00000134324			13345	protein-coding gene	gene with protein product		605518				11138012, 8724849, 16950137	Standard	NM_145693		Approved	KIAA0188	uc010yjm.3	Q14693	OTTHUMG00000119082	ENST00000256720.2:c.176G>A	2.37:g.11905843G>A	ENSP00000256720:p.Arg59His					LPIN1_ENST00000396098.1_Missense_Mutation_p.R65H|LPIN1_ENST00000449576.2_Missense_Mutation_p.R108H|LPIN1_ENST00000425416.2_Missense_Mutation_p.R65H|LPIN1_ENST00000396099.1_Missense_Mutation_p.R65H	p.R59H	NM_145693.2	NP_663731.1	Q14693	LPIN1_HUMAN		Epithelial(75;0.11)|OV - Ovarian serous cystadenocarcinoma(76;0.173)	2	269	+	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		59			N-LIP.		A8MU38|B4DET9|B4DGS4|B4DGZ6|B5MC18|B7Z858|D6W506|E7ESE7|F5GY24|Q53T25	Missense_Mutation	SNP	ENST00000256720.2	37	c.176G>A	CCDS1682.1	.	.	.	.	.	.	.	.	.	.	G	28.2	4.899858	0.91962	4.54E-4	2.33E-4	ENSG00000134324	ENST00000449576;ENST00000396098;ENST00000396099;ENST00000425416;ENST00000256720;ENST00000441684	T;T;T;T;T;T	0.78246	-1.16;-1.16;-1.16;-1.16;-1.16;-1.16	4.92	4.92	0.64577	Lipin, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.88610	0.6483	M	0.80183	2.485	0.80722	D	1	D;D;D	0.89917	0.999;1.0;0.999	D;D;D	0.97110	0.985;1.0;0.971	D	0.89260	0.3597	9	.	.	.	-24.7433	18.149	0.89668	0.0:0.0:1.0:0.0	.	108;59;65	F5GY24;Q14693;A8MU38	.;LPIN1_HUMAN;.	H	108;65;65;65;59;59	ENSP00000397908:R108H;ENSP00000379405:R65H;ENSP00000379406:R65H;ENSP00000401522:R65H;ENSP00000256720:R59H;ENSP00000412578:R59H	.	R	+	2	0	LPIN1	11823294	1.000000	0.71417	1.000000	0.80357	0.884000	0.51177	9.251000	0.95483	2.284000	0.76573	0.563000	0.77884	CGC		0.572	LPIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239296.3	NM_145693		27	24	0	0	0	1	0	27	24					A	11905843	G	A	11905843	3	1	435	1	0	0	0	0	1	0	0	0	8918	1087	38	1	178	1	LPIN1	2	11905843	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	96186	11905843	231293530	990	21915											
LPIN1	23175	broad.mit.edu	37	chr2	11919742	11919742	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaacccagaaatgctttggCtgtggggagagctgccgcag	10	7	15	9	1	0	3	0	0	0	3	0	4	0	3	2	3	4	4	2	3	2	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:11919742C>T	ENST00000256720.2	+	6	913	c.820C>T	c.(820-822)Ctg>Ttg	p.L274L	LPIN1_ENST00000396098.1_Silent_p.L316L|LPIN1_ENST00000396097.1_Silent_p.L4L|LPIN1_ENST00000396099.1_Silent_p.L316L|LPIN1_ENST00000449576.2_Silent_p.L359L|LPIN1_ENST00000425416.2_Silent_p.L280L	NM_145693.2	NP_663731.1	Q14693	LPIN1_HUMAN	lipin 1	274					cellular lipid metabolic process (GO:0044255)|fatty acid catabolic process (GO:0009062)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid metabolic process (GO:0006644)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|triglyceride biosynthetic process (GO:0019432)|triglyceride mobilization (GO:0006642)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	phosphatidate phosphatase activity (GO:0008195)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(15)|liver(1)|lung(10)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	45	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.11)|OV - Ovarian serous cystadenocarcinoma(76;0.173)		AATGCTTTGGCTGTGGGGAGA	0.483											OREG0014444	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000256720.2																			0				autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(15)|liver(1)|lung(10)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	45						c.(820-822)Ctg>Ttg		lipin 1							65	64	64					2																	11919742		2203	4300	6503	SO:0001819	synonymous_variant	23175				fatty acid catabolic process|transcription, DNA-dependent|triglyceride biosynthetic process|triglyceride mobilization	cytosol|endoplasmic reticulum membrane	phosphatidate phosphatase activity	g.chr2:11919742C>T	D80010	CCDS1682.1, CCDS58699.1, CCDS58700.1, CCDS58701.1	2p25.1	2008-05-23			ENSG00000134324	ENSG00000134324			13345	protein-coding gene	gene with protein product		605518				11138012, 8724849, 16950137	Standard	NM_145693		Approved	KIAA0188	uc010yjm.3	Q14693	OTTHUMG00000119082	ENST00000256720.2:c.820C>T	2.37:g.11919742C>T			OREG0014444	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	675	LPIN1_ENST00000396098.1_Silent_p.L316L|LPIN1_ENST00000449576.2_Silent_p.L359L|LPIN1_ENST00000396097.1_Silent_p.L4L|LPIN1_ENST00000425416.2_Silent_p.L280L|LPIN1_ENST00000396099.1_Silent_p.L316L	p.L274L	NM_145693.2	NP_663731.1	Q14693	LPIN1_HUMAN		Epithelial(75;0.11)|OV - Ovarian serous cystadenocarcinoma(76;0.173)	6	913	+	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		274					A8MU38|B4DET9|B4DGS4|B4DGZ6|B5MC18|B7Z858|D6W506|E7ESE7|F5GY24|Q53T25	Silent	SNP	ENST00000256720.2	37	c.820C>T	CCDS1682.1																																																																																				0.483	LPIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239296.3	NM_145693		13	36	0	0	0	1	0	13	36					T	11919742	C	T	11919742	2	4	435	1	0	0	0	0	0	0	0	1	8918	796	28	3		3	LPIN1	2	11919742	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	13899	11919742	231279631	991	21916											
TRIB2	28951	broad.mit.edu	37	chr2	12880827	12880827	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tggttttctacagattttagCgtctcgaattcagcatatgg	9	16	9	7	2	3	1	1	0	2	1	4	2	3	1	0	2	3	2	0	2	4	7	rs150722548	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:12880827C>T	ENST00000155926.4	+	3	2358	c.939C>T	c.(937-939)agC>agT	p.S313S	TRIB2_ENST00000381465.2_Silent_p.S177S	NM_021643.3	NP_067675.1			tribbles pseudokinase 2											breast(1)|cervix(1)|endometrium(1)|large_intestine(8)|lung(5)|prostate(1)|skin(1)|stomach(1)	19	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					CAGATTTTAGCGTCTCGAATT	0.517													C|||	2	0.000399361	0	0.0029	5008	,	,		19438	0		0	False		,,,				2504	0					ENST00000155926.4																			0				breast(1)|cervix(1)|endometrium(1)|large_intestine(8)|lung(5)|prostate(1)|skin(1)|stomach(1)	19						c.(937-939)agC>agT		tribbles pseudokinase 2		C		2,4404	4.2+/-10.8	0,2,2201	71	69	69		939	-3.9	0.9	2	dbSNP_134	69	13,8587	9.1+/-34.3	0,13,4287	no	coding-synonymous	TRIB2	NM_021643.3		0,15,6488	TT,TC,CC		0.1512,0.0454,0.1153		313/344	12880827	15,12991	2203	4300	6503	SO:0001819	synonymous_variant	28951				negative regulation of fat cell differentiation|negative regulation of interleukin-10 biosynthetic process|negative regulation of protein kinase activity|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|regulation of MAP kinase activity	cytoplasm|cytoskeleton|nucleus	ATP binding|protein kinase activity|protein kinase inhibitor activity|transcription factor binding|ubiquitin protein ligase binding|ubiquitin-protein ligase regulator activity	g.chr2:12880827C>T	AY245544	CCDS1683.1	2p25.1	2013-10-03	2013-10-03		ENSG00000071575	ENSG00000071575			30809	protein-coding gene	gene with protein product		609462	"tribbles homolog 2 (Drosophila)"			12736262, 17097562, 16715410	Standard	NM_021643		Approved	TRB2, GS3955	uc002rbv.4	Q92519	OTTHUMG00000090575	ENST00000155926.4:c.939C>T	2.37:g.12880827C>T						TRIB2_ENST00000381465.2_Silent_p.S177S	p.S313S	NM_021643.3	NP_067675.1	Q92519	TRIB2_HUMAN			3	2358	+	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		313						Silent	SNP	ENST00000155926.4	37	c.939C>T	CCDS1683.1																																																																																				0.517	TRIB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207114.2	NM_021643		10	21	0	0	0	1	0	10	21					T	12880827	C	T	12880827	2	4	435	1	0	0	0	0	0	0	0	1	16480	767	27	1		1	TRIB2	2	12880827	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	961085	12880827	230318546	992	21917											
NBAS	51594	broad.mit.edu	37	chr2	15372584	15372584	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tggactgctgcaacaacaccTtccaggaccttcagtgggtc	9	9	10	13	0	1	0	1	0	0	0	3	2	2	2	3	3	4	2	3	3	2	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:15372584T>A	ENST00000281513.5	-	47	6223	c.6198A>T	c.(6196-6198)gaA>gaT	p.E2066D	NBAS_ENST00000441750.1_Missense_Mutation_p.E1946D	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN	neuroblastoma amplified sequence	2066					negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:2000623)|nuclear-transcribed mRNA catabolic process (GO:0000956)	cytoplasm (GO:0005737)|membrane (GO:0016020)				NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						CAACAACACCTTCCAGGACCT	0.478																																						ENST00000281513.5																			0				NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						c.(6196-6198)gaA>gaT		neuroblastoma amplified sequence							109	84	92					2																	15372584		2203	4300	6503	SO:0001583	missense	51594							g.chr2:15372584T>A	BC051792	CCDS1685.1	2p24.3	2009-02-23			ENSG00000151779	ENSG00000151779			15625	protein-coding gene	gene with protein product		608025				9926938, 12706883	Standard	NM_015909		Approved	NAG	uc002rcc.2	A2RRP1	OTTHUMG00000121153	ENST00000281513.5:c.6198A>T	2.37:g.15372584T>A	ENSP00000281513:p.Glu2066Asp					NBAS_ENST00000441750.1_Missense_Mutation_p.E1946D	p.E2066D	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN			47	6223	-			2066					O95790|Q2VPJ7|Q53TK6|Q86V39|Q8NFY8|Q9Y3W5	Missense_Mutation	SNP	ENST00000281513.5	37	c.6198A>T	CCDS1685.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	10.08|10.08	1.252443|1.252443	0.22880|0.22880	.|.	.|.	ENSG00000151779|ENSG00000151779	ENST00000441750;ENST00000281513;ENST00000417461|ENST00000442506	T;T;T|.	0.55930|.	1.37;1.37;0.49|.	5.67|5.67	3.17|3.17	0.36434|0.36434	.|.	0.088658|.	0.85682|.	D|.	0.000000|.	T|T	0.54498|0.54498	0.1862|0.1862	L|L	0.51422|0.51422	1.61|1.61	0.46874|0.46874	D|D	0.999239|0.999239	P;P|.	0.45474|.	0.859;0.636|.	B;B|.	0.43728|.	0.429;0.178|.	T|T	0.52563|0.52563	-0.8559|-0.8559	10|5	0.87932|.	D|.	0|.	.|.	5.2009|5.2009	0.15264|0.15264	0.1386:0.1431:0.0:0.7182|0.1386:0.1431:0.0:0.7182	.|.	1946;2066|.	A2RRP1-2;A2RRP1|.	.;NBAS_HUMAN|.	D|M	1946;2066;158|1114	ENSP00000413201:E1946D;ENSP00000281513:E2066D;ENSP00000392421:E158D|.	ENSP00000281513:E2066D|.	E|K	-|-	3|2	2|0	NBAS|NBAS	15290035|15290035	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.285000|0.285000	0.27093|0.27093	1.183000|1.183000	0.32041|0.32041	2.159000|2.159000	0.67721|0.67721	0.533000|0.533000	0.62120|0.62120	GAA|AAG		0.478	NBAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241638.1	NM_015909		19	24	0	0	0	1	0	19	24					A	15372584	T	A	15372584	3	1	435	1	0	0	0	0	1	0	0	0	10186	1606	56	5	941	5	NBAS	2	15372584	Missense_Mutation	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	2491757	15372584	227826789	993	21918											
NBAS	51594	broad.mit.edu	37	chr2	15468417	15468417	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgtagttccgatttgatatGcaccaccacatttttgcccc	8	14	6	13	1	0	1	0	1	0	0	1	2	1	1	5	0	2	3	5	0	2	6			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:15468417G>A	ENST00000281513.5	-	37	4392	c.4367C>T	c.(4366-4368)gCa>gTa	p.A1456V	NBAS_ENST00000441750.1_Missense_Mutation_p.A1336V	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN	neuroblastoma amplified sequence	1456					negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:2000623)|nuclear-transcribed mRNA catabolic process (GO:0000956)	cytoplasm (GO:0005737)|membrane (GO:0016020)		p.A1456V(1)		NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						GATTTGATATGCACCACCACA	0.378																																						ENST00000281513.5																			1	Substitution - Missense(1)	p.A1456V(1)	large_intestine(1)	NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						c.(4366-4368)gCa>gTa		neuroblastoma amplified sequence							164	150	155					2																	15468417		2203	4300	6503	SO:0001583	missense	51594							g.chr2:15468417G>A	BC051792	CCDS1685.1	2p24.3	2009-02-23			ENSG00000151779	ENSG00000151779			15625	protein-coding gene	gene with protein product		608025				9926938, 12706883	Standard	NM_015909		Approved	NAG	uc002rcc.2	A2RRP1	OTTHUMG00000121153	ENST00000281513.5:c.4367C>T	2.37:g.15468417G>A	ENSP00000281513:p.Ala1456Val					NBAS_ENST00000441750.1_Missense_Mutation_p.A1336V	p.A1456V	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN			37	4392	-			1456					O95790|Q2VPJ7|Q53TK6|Q86V39|Q8NFY8|Q9Y3W5	Missense_Mutation	SNP	ENST00000281513.5	37	c.4367C>T	CCDS1685.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	8.367|8.367	0.834424|0.834424	0.16820|0.16820	.|.	.|.	ENSG00000151779|ENSG00000151779	ENST00000441750;ENST00000281513|ENST00000442506	T;T|.	0.10288|.	2.89;3.06|.	5.45|5.45	1.09|1.09	0.20402|0.20402	.|.	0.686003|.	0.16185|.	N|.	0.225680|.	T|T	0.17662|0.17662	0.0424|0.0424	N|N	0.11201|0.11201	0.11|0.11	0.09310|0.09310	N|N	1|1	B;B|.	0.20052|.	0.041;0.0|.	B;B|.	0.19391|.	0.025;0.001|.	T|T	0.27536|0.27536	-1.0071|-1.0071	10|5	0.87932|.	D|.	0|.	.|.	6.5682|6.5682	0.22523|0.22523	0.4883:0.0:0.5117:0.0|0.4883:0.0:0.5117:0.0	.|.	1336;1456|.	A2RRP1-2;A2RRP1|.	.;NBAS_HUMAN|.	V|Y	1336;1456|504	ENSP00000413201:A1336V;ENSP00000281513:A1456V|.	ENSP00000281513:A1456V|.	A|H	-|-	2|1	0|0	NBAS|NBAS	15385868|15385868	0.003000|0.003000	0.15002|0.15002	0.000000|0.000000	0.03702|0.03702	0.001000|0.001000	0.01503|0.01503	1.009000|1.009000	0.29886|0.29886	0.373000|0.373000	0.24621|0.24621	-0.150000|-0.150000	0.13652|0.13652	GCA|CAT		0.378	NBAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241638.1	NM_015909		50	58	0	0	0	1	0	50	58					A	15468417	G	A	15468417	3	1	435	1	0	0	0	0	1	0	0	0	10186	1319	46	3	2812	3	NBAS	2	15468417	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	95833	15468417	227730956	994	21919											
NBAS	51594	broad.mit.edu	37	chr2	15693592	15693592	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gaacagcagccaaaagctttCcattgcttttatggagaaga	14	10	9	8	0	0	2	0	0	0	2	1	4	1	2	2	1	5	3	2	1	5	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:15693592C>T	ENST00000281513.5	-	5	318	c.293G>A	c.(292-294)gGa>gAa	p.G98E	NBAS_ENST00000441750.1_Missense_Mutation_p.G98E	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN	neuroblastoma amplified sequence	98					negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:2000623)|nuclear-transcribed mRNA catabolic process (GO:0000956)	cytoplasm (GO:0005737)|membrane (GO:0016020)				NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						CAAAAGCTTTCCATTGCTTTT	0.299																																						ENST00000281513.5																			0				NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						c.(292-294)gGa>gAa		neuroblastoma amplified sequence							42	45	44					2																	15693592		2202	4295	6497	SO:0001583	missense	51594							g.chr2:15693592C>T	BC051792	CCDS1685.1	2p24.3	2009-02-23			ENSG00000151779	ENSG00000151779			15625	protein-coding gene	gene with protein product		608025				9926938, 12706883	Standard	NM_015909		Approved	NAG	uc002rcc.2	A2RRP1	OTTHUMG00000121153	ENST00000281513.5:c.293G>A	2.37:g.15693592C>T	ENSP00000281513:p.Gly98Glu					NBAS_ENST00000441750.1_Missense_Mutation_p.G98E	p.G98E	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN			5	318	-			98					O95790|Q2VPJ7|Q53TK6|Q86V39|Q8NFY8|Q9Y3W5	Missense_Mutation	SNP	ENST00000281513.5	37	c.293G>A	CCDS1685.1	.	.	.	.	.	.	.	.	.	.	C	15.23	2.772461	0.49680	.	.	ENSG00000151779	ENST00000441750;ENST00000281513	T;T	0.69561	-0.41;-0.41	4.57	4.57	0.56435	Quinoprotein amine dehydrogenase, beta chain-like (1);	0.000000	0.85682	D	0.000000	T	0.79673	0.4486	M	0.68593	2.085	0.27423	N	0.954232	D	0.89917	1.0	D	0.91635	0.999	T	0.73836	-0.3857	10	0.87932	D	0	.	14.6171	0.68558	0.0:1.0:0.0:0.0	.	98	A2RRP1	NBAS_HUMAN	E	98	ENSP00000413201:G98E;ENSP00000281513:G98E	ENSP00000281513:G98E	G	-	2	0	NBAS	15611043	1.000000	0.71417	0.877000	0.34402	0.917000	0.54804	5.532000	0.67154	2.257000	0.74773	0.305000	0.20034	GGA		0.299	NBAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241638.1	NM_015909		31	48	0	0	0	1	0	31	48					T	15693592	C	T	15693592	3	4	435	1	0	0	0	0	1	0	0	0	10186	855	30	3	7014	3	NBAS	2	15693592	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	225175	15693592	227505781	995	21920											
DDX1	1653	broad.mit.edu	37	chr2	15747405	15747405	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	actttgaacaacatcaagcaGtttaagaaatacattgataa	19	11	5	6	0	1	3	1	2	0	1	1	3	1	3	0	0	4	2	0	0	7	6			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:15747405G>A	ENST00000381341.2	+	14	1313	c.924G>A	c.(922-924)caG>caA	p.Q308Q	DDX1_ENST00000233084.3_Silent_p.Q308Q			Q92499	DDX1_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 1	308	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.|Necessary for interaction with RELA.				ATP catabolic process (GO:0006200)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|multicellular organismal development (GO:0007275)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translational initiation (GO:0006446)|response to exogenous dsRNA (GO:0043330)|response to virus (GO:0009615)|spliceosomal complex assembly (GO:0000245)|transcription, DNA-templated (GO:0006351)|tRNA splicing, via endonucleolytic cleavage and ligation (GO:0006388)	cleavage body (GO:0071920)|cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|tRNA-splicing ligase complex (GO:0072669)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA/RNA helicase activity (GO:0033677)|double-stranded RNA binding (GO:0003725)|exonuclease activity (GO:0004527)|nuclease activity (GO:0004518)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724)|transcription cofactor activity (GO:0003712)			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(13)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	29	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.197)	all_epithelial(98;2.96e-07)|Acute lymphoblastic leukemia(84;4.24e-05)|Ovarian(717;0.0694)	GBM - Glioblastoma multiforme(3;0.00969)	Epithelial(75;4.35e-05)|OV - Ovarian serous cystadenocarcinoma(76;0.133)		ACATCAAGCAGTTTAAGAAAT	0.363																																						ENST00000381341.2																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(13)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	29						c.(922-924)caG>caA		DEAD (Asp-Glu-Ala-Asp) box helicase 1							88	88	88					2																	15747405		2203	4300	6503	SO:0001819	synonymous_variant	1653				DNA duplex unwinding|double-strand break repair|multicellular organismal development|regulation of transcription, DNA-dependent|regulation of translational initiation|spliceosome assembly|transcription, DNA-dependent	cleavage body|stress granule|tRNA-splicing ligase complex	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|DNA/RNA helicase activity|exonuclease activity|poly(A) RNA binding|protein binding|RNA helicase activity|transcription cofactor activity	g.chr2:15747405G>A	X70649	CCDS1686.1	2p24	2012-02-23	2012-02-23		ENSG00000079785	ENSG00000079785		"DEAD-boxes"	2734	protein-coding gene	gene with protein product		601257	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 1", "DEAD (Asp-Glu-Ala-Asp) box polypeptide 1"			1552844, 19058135	Standard	NM_004939		Approved	DBP-RB	uc002rce.4	Q92499	OTTHUMG00000090593	ENST00000381341.2:c.924G>A	2.37:g.15747405G>A						DDX1_ENST00000233084.3_Silent_p.Q308Q	p.Q308Q			Q92499	DDX1_HUMAN	GBM - Glioblastoma multiforme(3;0.00969)	Epithelial(75;4.35e-05)|OV - Ovarian serous cystadenocarcinoma(76;0.133)	14	1313	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.197)	all_epithelial(98;2.96e-07)|Acute lymphoblastic leukemia(84;4.24e-05)|Ovarian(717;0.0694)	308			Helicase ATP-binding.|Necessary for interaction with RELA.		B4DME8|B4DPN6	Silent	SNP	ENST00000381341.2	37	c.924G>A	CCDS1686.1																																																																																				0.363	DDX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207141.2	NM_004939		30	38	0	0	0	1	0	30	38					A	15747405	G	A	15747405	2	1	435	1	0	0	0	0	0	0	0	1	4341	1020	36	3		3	DDX1	2	15747405	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	53813	15747405	227451968	996	21921											
DDX1	1653	broad.mit.edu	37	chr2	15770167	15770167	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	accatttctcaggttgagccGgatataaaggtaccagtgga	12	10	11	8	1	1	1	1	1	1	0	2	3	1	3	3	4	2	2	3	4	4	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:15770167G>A	ENST00000381341.2	+	26	2414	c.2025G>A	c.(2023-2025)ccG>ccA	p.P675P	DDX1_ENST00000233084.3_Silent_p.P675P			Q92499	DDX1_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 1	675	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.|Necessary for interaction with HNRNPK.				ATP catabolic process (GO:0006200)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|multicellular organismal development (GO:0007275)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translational initiation (GO:0006446)|response to exogenous dsRNA (GO:0043330)|response to virus (GO:0009615)|spliceosomal complex assembly (GO:0000245)|transcription, DNA-templated (GO:0006351)|tRNA splicing, via endonucleolytic cleavage and ligation (GO:0006388)	cleavage body (GO:0071920)|cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|tRNA-splicing ligase complex (GO:0072669)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA/RNA helicase activity (GO:0033677)|double-stranded RNA binding (GO:0003725)|exonuclease activity (GO:0004527)|nuclease activity (GO:0004518)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724)|transcription cofactor activity (GO:0003712)	p.P675P(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(13)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	29	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.197)	all_epithelial(98;2.96e-07)|Acute lymphoblastic leukemia(84;4.24e-05)|Ovarian(717;0.0694)	GBM - Glioblastoma multiforme(3;0.00969)	Epithelial(75;4.35e-05)|OV - Ovarian serous cystadenocarcinoma(76;0.133)		AGGTTGAGCCGGATATAAAGG	0.343																																						ENST00000381341.2																			1	Substitution - coding silent(1)	p.P675P(1)	lung(1)	autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(13)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	29						c.(2023-2025)ccG>ccA		DEAD (Asp-Glu-Ala-Asp) box helicase 1							96	102	100					2																	15770167		2203	4300	6503	SO:0001819	synonymous_variant	1653				DNA duplex unwinding|double-strand break repair|multicellular organismal development|regulation of transcription, DNA-dependent|regulation of translational initiation|spliceosome assembly|transcription, DNA-dependent	cleavage body|stress granule|tRNA-splicing ligase complex	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|DNA/RNA helicase activity|exonuclease activity|poly(A) RNA binding|protein binding|RNA helicase activity|transcription cofactor activity	g.chr2:15770167G>A	X70649	CCDS1686.1	2p24	2012-02-23	2012-02-23		ENSG00000079785	ENSG00000079785		"DEAD-boxes"	2734	protein-coding gene	gene with protein product		601257	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 1", "DEAD (Asp-Glu-Ala-Asp) box polypeptide 1"			1552844, 19058135	Standard	NM_004939		Approved	DBP-RB	uc002rce.4	Q92499	OTTHUMG00000090593	ENST00000381341.2:c.2025G>A	2.37:g.15770167G>A						DDX1_ENST00000233084.3_Silent_p.P675P	p.P675P			Q92499	DDX1_HUMAN	GBM - Glioblastoma multiforme(3;0.00969)	Epithelial(75;4.35e-05)|OV - Ovarian serous cystadenocarcinoma(76;0.133)	26	2414	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.197)	all_epithelial(98;2.96e-07)|Acute lymphoblastic leukemia(84;4.24e-05)|Ovarian(717;0.0694)	675			Helicase C-terminal.|Necessary for interaction with HNRNPK.		B4DME8|B4DPN6	Silent	SNP	ENST00000381341.2	37	c.2025G>A	CCDS1686.1																																																																																				0.343	DDX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207141.2	NM_004939		16	88	0	0	0	1	0	16	88					A	15770167	G	A	15770167	2	1	435	1	0	0	0	0	0	0	0	1	4341	1103	39	2		2	DDX1	2	15770167	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	22762	15770167	227429206	997	21922											
MYCN	4613	broad.mit.edu	37	chr2	16085913	16085913	+	Frame_Shift_Del	DEL	C	C	-																															cgtccgctcaagagtgtcatCcccccaaaggctaagagctt																										TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:16085913delC	ENST00000281043.3	+	3	1386	c.1089delC	c.(1087-1089)atcfs	p.I363fs		NM_005378.4	NP_005369.2	P04198	MYCN_HUMAN	v-myc avian myelocytomatosis viral oncogene neuroblastoma derived homolog	363				I -> V (in Ref. 3; CAA68678). {ECO:0000305}.	branching morphogenesis of an epithelial tube (GO:0048754)|cartilage condensation (GO:0001502)|embryonic digit morphogenesis (GO:0042733)|embryonic skeletal system morphogenesis (GO:0048704)|lung development (GO:0030324)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|positive regulation of cell death (GO:0010942)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	chromatin (GO:0000785)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	31	all_cancers(1;1.35e-08)|all_neural(1;2.92e-24)|Lung SC(1;3.26e-07)|Medulloblastoma(1;6.9e-06)|all_lung(1;1.26e-05)|Glioma(3;0.135)|Acute lymphoblastic leukemia(172;0.155)|all_epithelial(1;0.169)|all_hematologic(175;0.197)		GBM - Glioblastoma multiforme(3;0.000332)			AGAGTGTCATCCCCCCAAAGG	0.602			A		neuroblastoma																																	ENST00000281043.3				Dom	yes		2	2p24.1	4613	A	"v-myc myelocytomatosis viral related oncogene, neuroblastoma derived (avian)"			O			neuroblastoma		0				NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	31						c.(1087-1089)atfs		v-myc avian myelocytomatosis viral oncogene neuroblastoma derived homolog							45	46	46					2																	16085913		2203	4300	6503	SO:0001589	frameshift_variant	4613				regulation of transcription from RNA polymerase II promoter	chromatin|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr2:16085913delC	BC002712	CCDS1687.1	2p24.3	2013-08-14	2013-07-09		ENSG00000134323	ENSG00000134323		"Basic helix-loop-helix proteins"	7559	protein-coding gene	gene with protein product		164840		NMYC			Standard	XM_006711886		Approved	bHLHe37, N-myc, MYCNOT	uc002rci.3	P04198	OTTHUMG00000039579	ENST00000281043.3:c.1089delC	2.37:g.16085913delC	ENSP00000281043:p.Ile363fs						p.I363fs	NM_005378.4	NP_005369.2	P04198	MYCN_HUMAN	GBM - Glioblastoma multiforme(3;0.000332)		3	1386	+	all_cancers(1;1.35e-08)|all_neural(1;2.92e-24)|Lung SC(1;3.26e-07)|Medulloblastoma(1;6.9e-06)|all_lung(1;1.26e-05)|Glioma(3;0.135)|Acute lymphoblastic leukemia(172;0.155)|all_epithelial(1;0.169)|all_hematologic(175;0.197)		363	I -> V (in Ref. 3; CAA68678).				Q53XS5|Q6LDT9	Frame_Shift_Del	DEL	ENST00000281043.3	37	c.1089delC	CCDS1687.1																																																																																				0.602	MYCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095469.2	NM_005378		15	22						15	22	---	---	---	---	-	16085913	C	-	16085913	7	5	435	1	0	1	0	1	0	0	0	0	10021	845	30	0	1095	0	MYCN	2	16085913	Frame_Shift_Del	DEL	C	TCGA-XK-AAIW-01A-11D-A41K-08	315746	16085913	227113460	998	21923											
MYCN	4613	broad.mit.edu	37	chr2	16086001	16086001	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acaacatcctggagcgccagCgccgcaacgaccttcggtcc	9	5	10	17	5	0	0	0	0	0	0	3	2	2	1	5	2	4	1	5	2	2	1	rs104893647		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:16086001C>T	ENST00000281043.3	+	3	1474	c.1177C>T	c.(1177-1179)Cgc>Tgc	p.R393C		NM_005378.4	NP_005369.2	P04198	MYCN_HUMAN	v-myc avian myelocytomatosis viral oncogene neuroblastoma derived homolog	393	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.		R -> H (in FGLDS1). {ECO:0000269|PubMed:15821734}.|R -> S (in FGLDS1). {ECO:0000269|PubMed:15821734}.		branching morphogenesis of an epithelial tube (GO:0048754)|cartilage condensation (GO:0001502)|embryonic digit morphogenesis (GO:0042733)|embryonic skeletal system morphogenesis (GO:0048704)|lung development (GO:0030324)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|positive regulation of cell death (GO:0010942)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	chromatin (GO:0000785)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	31	all_cancers(1;1.35e-08)|all_neural(1;2.92e-24)|Lung SC(1;3.26e-07)|Medulloblastoma(1;6.9e-06)|all_lung(1;1.26e-05)|Glioma(3;0.135)|Acute lymphoblastic leukemia(172;0.155)|all_epithelial(1;0.169)|all_hematologic(175;0.197)		GBM - Glioblastoma multiforme(3;0.000332)			GGAGCGCCAGCGCCGCAACGA	0.572			A		neuroblastoma																																	ENST00000281043.3				Dom	yes		2	2p24.1	4613	A	"v-myc myelocytomatosis viral related oncogene, neuroblastoma derived (avian)"			O			neuroblastoma		0				NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	31	GRCh37	CM056658	MYCN	M	rs104893647	c.(1177-1179)Cgc>Tgc		v-myc avian myelocytomatosis viral oncogene neuroblastoma derived homolog							78	83	81					2																	16086001		2203	4300	6503	SO:0001583	missense	4613				regulation of transcription from RNA polymerase II promoter	chromatin|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr2:16086001C>T	BC002712	CCDS1687.1	2p24.3	2013-08-14	2013-07-09		ENSG00000134323	ENSG00000134323		"Basic helix-loop-helix proteins"	7559	protein-coding gene	gene with protein product		164840		NMYC			Standard	XM_006711886		Approved	bHLHe37, N-myc, MYCNOT	uc002rci.3	P04198	OTTHUMG00000039579	ENST00000281043.3:c.1177C>T	2.37:g.16086001C>T	ENSP00000281043:p.Arg393Cys						p.R393C	NM_005378.4	NP_005369.2	P04198	MYCN_HUMAN	GBM - Glioblastoma multiforme(3;0.000332)		3	1474	+	all_cancers(1;1.35e-08)|all_neural(1;2.92e-24)|Lung SC(1;3.26e-07)|Medulloblastoma(1;6.9e-06)|all_lung(1;1.26e-05)|Glioma(3;0.135)|Acute lymphoblastic leukemia(172;0.155)|all_epithelial(1;0.169)|all_hematologic(175;0.197)		393		R -> H (in MODED).|R -> S (in MODED).			Q53XS5|Q6LDT9	Missense_Mutation	SNP	ENST00000281043.3	37	c.1177C>T	CCDS1687.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.090345	0.76756	.	.	ENSG00000134323	ENST00000281043;ENST00000426211	D	0.99722	-6.53	5.14	5.14	0.70334	Helix-loop-helix DNA-binding (5);	0.000000	0.85682	D	0.000000	D	0.99849	0.9930	H	0.98333	4.205	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96621	0.9459	10	0.87932	D	0	-13.5801	15.4038	0.74861	0.1395:0.8604:0.0:0.0	.	393	P04198	MYCN_HUMAN	C	393;311	ENSP00000281043:R393C	ENSP00000281043:R393C	R	+	1	0	MYCN	16003452	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.076000	0.41548	2.588000	0.87417	0.609000	0.83330	CGC		0.572	MYCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095469.2	NM_005378		22	39	0	0	0	1	0	22	39					T	16086001	C	T	16086001	3	4	435	1	0	0	0	0	1	0	0	0	10021	768	27	1	1183	1	MYCN	2	16086001	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	88	16086001	227113372	999	21924											
SMC6	79677	broad.mit.edu	37	chr2	17902486	17902486	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	accagcaatactttgaaaacGttcctctttctctacacact	12	13	3	13	1	2	1	0	1	2	0	4	1	3	1	2	0	4	2	2	0	5	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:17902486G>A	ENST00000448223.2	-	10	1038	c.769C>T	c.(769-771)Cgt>Tgt	p.R257C	SMC6_ENST00000402989.1_Missense_Mutation_p.R257C|SMC6_ENST00000351948.4_Missense_Mutation_p.R257C|SMC6_ENST00000381272.4_Missense_Mutation_p.R283C	NM_001142286.1	NP_001135758.1	Q96SB8	SMC6_HUMAN	structural maintenance of chromosomes 6	257					cellular senescence (GO:0090398)|double-strand break repair via homologous recombination (GO:0000724)|telomere maintenance via recombination (GO:0000722)	chromosome, telomeric region (GO:0000781)|intracellular (GO:0005622)|nucleolus (GO:0005730)|nucleus (GO:0005634)|PML body (GO:0016605)|Smc5-Smc6 complex (GO:0030915)	ATP binding (GO:0005524)			NS(1)|biliary_tract(1)|breast(6)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	43	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					CTTTGAAAACGTTCCTCTTTC	0.333																																						ENST00000448223.2																			0				NS(1)|biliary_tract(1)|breast(6)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	43						c.(769-771)Cgt>Tgt		structural maintenance of chromosomes 6							123	119	121					2																	17902486		2202	4300	6502	SO:0001583	missense	79677				DNA recombination|DNA repair	chromosome|nucleus	ATP binding	g.chr2:17902486G>A	AJ310551	CCDS1690.1	2p24.3	2008-02-05	2006-07-06	2006-07-06	ENSG00000163029	ENSG00000163029		"Structural maintenance of chromosomes proteins"	20466	protein-coding gene	gene with protein product		609387	"SMC6 structural maintenance of chromosomes 6-like 1 (yeast)"	SMC6L1		11230166	Standard	NM_024624		Approved	FLJ22116	uc002rcn.3	Q96SB8	OTTHUMG00000090675	ENST00000448223.2:c.769C>T	2.37:g.17902486G>A	ENSP00000404092:p.Arg257Cys					SMC6_ENST00000351948.4_Missense_Mutation_p.R257C|SMC6_ENST00000381272.4_Missense_Mutation_p.R283C|SMC6_ENST00000402989.1_Missense_Mutation_p.R257C	p.R257C	NM_001142286.1	NP_001135758.1	Q96SB8	SMC6_HUMAN			10	1038	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)		257					A8K8Q6|D6W518|Q05BV4|Q9H0X3|Q9H6M0	Missense_Mutation	SNP	ENST00000448223.2	37	c.769C>T	CCDS1690.1	.	.	.	.	.	.	.	.	.	.	G	15.67	2.901567	0.52227	.	.	ENSG00000163029	ENST00000448223;ENST00000351948;ENST00000381272;ENST00000402989;ENST00000446852	T;T;T;T;T	0.06608	3.28;3.28;3.28;3.28;3.28	5.88	4.99	0.66335	RecF/RecN/SMC (1);	0.148257	0.64402	D	0.000012	T	0.06508	0.0167	L	0.39898	1.24	0.58432	D	0.999998	B;P;B	0.37500	0.424;0.597;0.29	B;B;B	0.34779	0.092;0.082;0.189	T	0.39035	-0.9633	10	0.38643	T	0.18	.	11.4338	0.50056	0.0:0.1365:0.7217:0.1418	.	283;283;257	C9JMN1;Q96SB8-2;Q96SB8	.;.;SMC6_HUMAN	C	257;257;283;257;283	ENSP00000404092:R257C;ENSP00000323439:R257C;ENSP00000370672:R283C;ENSP00000384539:R257C;ENSP00000408644:R283C	ENSP00000323439:R257C	R	-	1	0	SMC6	17765967	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	4.811000	0.62606	1.455000	0.47813	0.591000	0.81541	CGT		0.333	SMC6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207359.1	NM_024624		11	63	0	0	0	1	0	11	63					A	17902486	G	A	17902486	3	1	435	1	0	0	0	0	1	0	0	0	14787	1145	40	1	2582	1	SMC6	2	17902486	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	1816485	17902486	225296887	1000	21925											
NT5C1B	93034	broad.mit.edu	37	chr2	18757550	18757550	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	actcatcagagaagaggacaGcatccccatcaaaggctaca	16	5	8	12	0	3	2	3	0	0	2	4	4	4	3	2	2	2	2	2	2	3	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:18757550G>A	ENST00000359846.2	-	9	1486	c.1409C>T	c.(1408-1410)gCt>gTt	p.A470V	NT5C1B_ENST00000304081.4_Missense_Mutation_p.A410V|NT5C1B_ENST00000600945.1_Missense_Mutation_p.A470V|NT5C1B-RDH14_ENST00000532967.1_Missense_Mutation_p.A470V	NM_001002006.2|NM_001199086.1|NM_001199087.1|NM_001199088.1	NP_001002006.1|NP_001186015.1|NP_001186016.1|NP_001186017.1	Q96P26	5NT1B_HUMAN	5'-nucleotidase, cytosolic IB	470					nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide catabolic process (GO:0006195)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|nucleus (GO:0005634)	5'-nucleotidase activity (GO:0008253)|magnesium ion binding (GO:0000287)|nucleotide binding (GO:0000166)			endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	29	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.177)	Ovarian(717;0.208)				GAAGAGGACAGCATCCCCATC	0.458																																						ENST00000304081.4																			0				endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	29						c.(1228-1230)gCt>gTt		5'-nucleotidase, cytosolic IB							115	102	107					2																	18757550		2203	4300	6503	SO:0001583	missense	93034							g.chr2:18757550G>A	AF356185	CCDS33149.1, CCDS33150.1	2p24.2	2010-08-13			ENSG00000185013	ENSG00000185013	3.1.3.5		17818	protein-coding gene	gene with protein product		610526				11690631	Standard	NM_033253		Approved	AIRP, CN-IB		Q96P26	OTTHUMG00000151765	ENST00000359846.2:c.1409C>T	2.37:g.18757550G>A	ENSP00000352904:p.Ala470Val					NT5C1B_ENST00000359846.2_Missense_Mutation_p.A470V|NT5C1B-RDH14_ENST00000532967.1_Missense_Mutation_p.A470V|NT5C1B_ENST00000600945.1_Missense_Mutation_p.A470V	p.A410V	NM_033253.3	NP_150278.2					8	1329	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.177)	Ovarian(717;0.208)						B5MCR0|B7ZVX7|Q53RX2|Q8N9W3|Q8NA26|Q96DU5|Q96KE6|Q96M25|Q96SA3	Missense_Mutation	SNP	ENST00000359846.2	37	c.1229C>T	CCDS33150.1	.	.	.	.	.	.	.	.	.	.	G	35	5.544490	0.96488	.	.	ENSG00000250741;ENSG00000250741;ENSG00000185013;ENSG00000185013	ENST00000532967;ENST00000444297;ENST00000304081;ENST00000359846	D	0.91945	-2.94	5.33	5.33	0.75918	.	0.046467	0.85682	D	0.000000	D	0.96580	0.8884	M	0.87180	2.865	0.80722	D	1	D;D;D;D;D;D;D;D	0.71674	0.988;0.988;0.988;0.998;0.993;0.985;0.988;0.998	D;D;D;D;D;D;D;D	0.71184	0.951;0.951;0.951;0.953;0.934;0.918;0.951;0.972	D	0.96792	0.9583	10	0.66056	D	0.02	-16.1879	19.3779	0.94518	0.0:0.0:1.0:0.0	.	453;487;410;453;412;410;470;470	E7EXB7;B4DZ86;B4DXQ9;B4DXZ9;C9J2C7;Q96P26-2;Q96P26;Q96P26-4	.;.;.;.;.;.;5NT1B_HUMAN;.	V	470;412;410;470	ENSP00000412639:A412V	ENSP00000305979:A410V	A	-	2	0	NT5C1B-RDH14;NT5C1B	18621031	1.000000	0.71417	0.730000	0.30809	0.996000	0.88848	9.789000	0.99068	2.654000	0.90174	0.655000	0.94253	GCT		0.458	NT5C1B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000323822.1			4	41	0	0	0	1	0	4	41					A	18757550	G	A	18757550	3	1	435	1	0	0	0	0	1	0	0	0	10686	971	34	3	431	3	NT5C1B	2	18757550	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	855064	18757550	224441823	1001	21926											
NT5C1B	93034	broad.mit.edu	37	chr2	18765459	18765459	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctcgtagattttcctgccGtccaccatgttgaagagcgc	7	12	10	12	3	0	3	0	1	0	2	3	3	2	3	4	0	3	3	4	0	2	4	rs543116360		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:18765459G>A	ENST00000359846.2	-	6	1043	c.966C>T	c.(964-966)gaC>gaT	p.D322D	RNU6-1215P_ENST00000384441.1_RNA|NT5C1B_ENST00000304081.4_Silent_p.D262D|NT5C1B_ENST00000600945.1_Silent_p.D322D|NT5C1B_ENST00000460052.1_5'Flank|NT5C1B-RDH14_ENST00000532967.1_Silent_p.D322D	NM_001002006.2|NM_001199086.1|NM_001199087.1|NM_001199088.1	NP_001002006.1|NP_001186015.1|NP_001186016.1|NP_001186017.1	Q96P26	5NT1B_HUMAN	5'-nucleotidase, cytosolic IB	322					nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide catabolic process (GO:0006195)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|nucleus (GO:0005634)	5'-nucleotidase activity (GO:0008253)|magnesium ion binding (GO:0000287)|nucleotide binding (GO:0000166)			endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	29	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.177)	Ovarian(717;0.208)				TTTTCCTGCCGTCCACCATGT	0.557																																						ENST00000304081.4																			0				endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	29						c.(784-786)gaC>gaT		5'-nucleotidase, cytosolic IB							166	158	161					2																	18765459		2203	4300	6503	SO:0001819	synonymous_variant	93034							g.chr2:18765459G>A	AF356185	CCDS33149.1, CCDS33150.1	2p24.2	2010-08-13			ENSG00000185013	ENSG00000185013	3.1.3.5		17818	protein-coding gene	gene with protein product		610526				11690631	Standard	NM_033253		Approved	AIRP, CN-IB		Q96P26	OTTHUMG00000151765	ENST00000359846.2:c.966C>T	2.37:g.18765459G>A						NT5C1B_ENST00000359846.2_Silent_p.D322D|NT5C1B-RDH14_ENST00000532967.1_Silent_p.D322D|NT5C1B_ENST00000600945.1_Silent_p.D322D	p.D262D	NM_033253.3	NP_150278.2					5	886	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.177)	Ovarian(717;0.208)						B5MCR0|B7ZVX7|Q53RX2|Q8N9W3|Q8NA26|Q96DU5|Q96KE6|Q96M25|Q96SA3	Silent	SNP	ENST00000359846.2	37	c.786C>T	CCDS33150.1																																																																																				0.557	NT5C1B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000323822.1			54	79	0	0	0	1	0	54	79					A	18765459	G	A	18765459	2	1	435	1	0	0	0	0	0	0	0	1	10686	1136	40	1		1	NT5C1B	2	18765459	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	7909	18765459	224433914	1002	21927											
WDR35	57539	broad.mit.edu	37	chr2	20135319	20135319	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atatagtaacattcagctaaGcgttcctggttccgtccttg	9	14	8	10	2	1	0	1	0	0	0	4	0	4	0	3	1	3	4	3	1	4	8			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:20135319G>A	ENST00000345530.3	-	22	2608	c.2493C>T	c.(2491-2493)cgC>cgT	p.R831R	WDR35_ENST00000281405.4_Silent_p.R820R|WDR35_ENST00000416055.2_Silent_p.R396R	NM_001006657.1	NP_001006658.1	Q9P2L0	WDR35_HUMAN	WD repeat domain 35	831					cilium assembly (GO:0042384)|intraciliary retrograde transport (GO:0035721)	axoneme (GO:0005930)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|intraciliary transport particle A (GO:0030991)				breast(1)|endometrium(5)|kidney(8)|large_intestine(8)|lung(16)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ATTCAGCTAAGCGTTCCTGGT	0.353																																						ENST00000345530.3																			0				breast(1)|endometrium(5)|kidney(8)|large_intestine(8)|lung(16)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43						c.(2491-2493)cgC>cgT		WD repeat domain 35							107	101	103					2																	20135319		2203	4300	6503	SO:0001819	synonymous_variant	57539							g.chr2:20135319G>A	AB037757	CCDS1695.1, CCDS33152.1	2p24.3	2014-02-21			ENSG00000118965	ENSG00000118965		"WD repeat domain containing", "Intraflagellar transport homologs"	29250	protein-coding gene	gene with protein product		613602				10718198	Standard	NM_001006657		Approved	MGC33196, KIAA1336, IFT121, IFTA1	uc002rdi.3	Q9P2L0	OTTHUMG00000090737	ENST00000345530.3:c.2493C>T	2.37:g.20135319G>A						WDR35_ENST00000416055.2_Silent_p.R396R|WDR35_ENST00000281405.4_Silent_p.R820R	p.R831R	NM_001006657.1	NP_001006658.1	Q9P2L0	WDR35_HUMAN			22	2608	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		831					B3KVI5|Q4ZG01|Q8NE11	Silent	SNP	ENST00000345530.3	37	c.2493C>T	CCDS33152.1																																																																																				0.353	WDR35-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000207472.2	NM_020779		24	33	0	0	0	1	0	24	33					A	20135319	G	A	20135319	2	1	435	1	0	0	0	0	0	0	0	1	17286	958	34	3		3	WDR35	2	20135319	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	1369860	20135319	223064054	1003	21928											
HS1BP3	64342	broad.mit.edu	37	chr2	20818848	20818848	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gatctgctcctgcggcttctGctgcccagccacagcttcag	5	10	10	16	1	3	0	1	0	2	0	4	1	4	0	3	1	6	4	3	1	0	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:20818848G>A	ENST00000304031.3	-	7	1103	c.1078C>T	c.(1078-1080)Cag>Tag	p.Q360*		NM_022460.3	NP_071905.3	Q53T59	H1BP3_HUMAN	HCLS1 binding protein 3	360							phosphatidylinositol binding (GO:0035091)			endometrium(4)|large_intestine(1)|lung(7)|ovary(1)|skin(2)	15	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGCGGCTTCTGCTGCCCAGCC	0.617																																						ENST00000304031.3																			0				endometrium(4)|large_intestine(1)|lung(7)|ovary(1)|skin(2)	15						c.(1078-1080)Cag>Tag		HCLS1 binding protein 3							81	90	87					2																	20818848		2203	4300	6503	SO:0001587	stop_gained	64342				cell communication		phosphatidylinositol binding	g.chr2:20818848G>A		CCDS1700.1	2p24.1	2006-08-15			ENSG00000118960	ENSG00000118960			24979	protein-coding gene	gene with protein product		609359				10590261, 15699368	Standard	NM_022460		Approved	HS1-BP3,FLJ14249	uc002rdw.1	Q53T59	OTTHUMG00000122099	ENST00000304031.3:c.1078C>T	2.37:g.20818848G>A	ENSP00000305193:p.Gln360*						p.Q360*	NM_022460.3	NP_071905.3	Q53T59	H1BP3_HUMAN			7	1103	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		360					B2RAW2|D6W529|Q86VC2|Q8N367	Nonsense_Mutation	SNP	ENST00000304031.3	37	c.1078C>T	CCDS1700.1	.	.	.	.	.	.	.	.	.	.	G	23.6	4.430467	0.83776	.	.	ENSG00000118960	ENST00000304031	.	.	.	5.25	3.44	0.39384	.	1.176820	0.06173	N	0.678084	.	.	.	.	.	.	0.19300	N	0.999978	.	.	.	.	.	.	.	.	.	.	0.25751	T	0.34	-0.0135	8.4695	0.32977	0.1826:0.0:0.8174:0.0	.	.	.	.	X	360	.	ENSP00000305193:Q360X	Q	-	1	0	HS1BP3	20682329	0.000000	0.05858	0.002000	0.10522	0.754000	0.42855	0.295000	0.19065	0.607000	0.29982	0.655000	0.94253	CAG		0.617	HS1BP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000242863.1	NM_022460		37	48	0	0	0	1	0	37	48					A	20818848	G	A	20818848	4	1	435	1	0	0	0	0	0	1	0	0	7361	1328	46	3	104	3	HS1BP3	2	20818848	Nonsense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	683529	20818848	222380525	1004	21929											
GDF7	151449	broad.mit.edu	37	chr2	20870397	20870397	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtccacgtgcccgggcgccGcccgagcgccacgcctgctg	3	5	14	19	7	0	0	0	0	0	0	1	1	1	0	6	1	3	1	6	1	0	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:20870397G>A	ENST00000272224.3	+	2	1141	c.565G>A	c.(565-567)Gcc>Acc	p.A189T		NM_182828.2	NP_878248.2	Q7Z4P5	GDF7_HUMAN	growth differentiation factor 7	189					activin receptor signaling pathway (GO:0032924)|axon guidance (GO:0007411)|BMP signaling pathway (GO:0030509)|branching morphogenesis of an epithelial tube (GO:0048754)|cell fate commitment (GO:0045165)|epithelial cell differentiation (GO:0030855)|forebrain morphogenesis (GO:0048853)|gland morphogenesis (GO:0022612)|growth (GO:0040007)|midbrain development (GO:0030901)|morphogenesis of an epithelial fold (GO:0060571)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of tendon cell differentiation (GO:2001051)|positive regulation of transcription, DNA-templated (GO:0045893)|reproductive structure development (GO:0048608)|roof plate formation (GO:0021509)|spinal cord association neuron differentiation (GO:0021527)	extracellular space (GO:0005615)				breast(1)|cervix(1)|endometrium(2)|lung(1)|prostate(1)|skin(1)	7	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCCGGGCGCCGCCCGAGCGCC	0.736																																						ENST00000272224.3																			0				breast(1)|cervix(1)|endometrium(2)|lung(1)|prostate(1)|skin(1)	7						c.(565-567)Gcc>Acc		growth differentiation factor 7							7	8	8					2																	20870397		2148	4183	6331	SO:0001583	missense	151449				activin receptor signaling pathway|BMP signaling pathway|growth|pathway-restricted SMAD protein phosphorylation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent	extracellular space	cytokine activity|growth factor activity	g.chr2:20870397G>A	AF522369	CCDS1701.1	2p24.1	2008-05-22			ENSG00000143869	ENSG00000143869			4222	protein-coding gene	gene with protein product		604651				10022976, 9808626	Standard	NM_182828		Approved	BMP12	uc002rdz.1	Q7Z4P5	OTTHUMG00000090781	ENST00000272224.3:c.565G>A	2.37:g.20870397G>A	ENSP00000272224:p.Ala189Thr						p.A189T	NM_182828.2	NP_878248.2	Q7Z4P5	GDF7_HUMAN			2	1141	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		189						Missense_Mutation	SNP	ENST00000272224.3	37	c.565G>A	CCDS1701.1	.	.	.	.	.	.	.	.	.	.	G	11.10	1.538732	0.27475	.	.	ENSG00000143869	ENST00000272224	T	0.63913	-0.07	3.74	2.86	0.33363	Transforming growth factor-beta, N-terminal (1);	1.986020	0.03266	N	0.183901	T	0.68988	0.3061	L	0.50333	1.59	0.09310	N	1	D	0.69078	0.997	P	0.55222	0.771	T	0.54768	-0.8244	10	0.15499	T	0.54	.	11.3103	0.49360	0.091:0.0:0.909:0.0	.	189	Q7Z4P5	GDF7_HUMAN	T	189	ENSP00000272224:A189T	ENSP00000272224:A189T	A	+	1	0	GDF7	20733878	0.000000	0.05858	0.016000	0.15963	0.056000	0.15407	-0.337000	0.07852	0.919000	0.36945	0.462000	0.41574	GCC		0.736	GDF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207563.2	NM_182828		5	8	0	0	0	1	0	5	8					A	20870397	G	A	20870397	3	1	435	1	0	0	0	0	1	0	0	0	6318	1087	38	1	571	1	GDF7	2	20870397	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	51549	20870397	222328976	1005	21930											
APOB	338	broad.mit.edu	37	chr2	21226053	21226053	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cttgttgacataatcataaaGgacccctgtggccttgggca	10	11	10	10	0	1	1	1	1	0	0	1	2	1	2	3	3	0	2	3	3	3	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:21226053G>T	ENST00000233242.1	-	29	12368	c.12241C>A	c.(12241-12243)Ctt>Att	p.L4081I	RP11-116D2.1_ENST00000567376.2_lincRNA	NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	4081					artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TAATCATAAAGGACCCCTGTG	0.468																																						ENST00000233242.1																			0				NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305						c.(12241-12243)Ctt>Att		apolipoprotein B	Atorvastatin(DB01076)						169	174	172					2																	21226053		2203	4300	6503	SO:0001583	missense	338				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	g.chr2:21226053G>T	M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"Apolipoproteins"	603	protein-coding gene	gene with protein product		107730	"apolipoprotein B (including Ag(x) antigen)"				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.12241C>A	2.37:g.21226053G>T	ENSP00000233242:p.Leu4081Ile						p.L4081I	NM_000384.2	NP_000375.2	P04114	APOB_HUMAN			29	12368	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		4081					O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Missense_Mutation	SNP	ENST00000233242.1	37	c.12241C>A	CCDS1703.1	.	.	.	.	.	.	.	.	.	.	G	10.15	1.271420	0.23221	.	.	ENSG00000084674	ENST00000233242;ENST00000535079	T	0.36878	1.23	5.99	-5.56	0.02529	.	0.819939	0.10783	N	0.634631	T	0.17238	0.0414	L	0.32530	0.975	0.23298	N	0.997953	B	0.21071	0.051	B	0.14023	0.01	T	0.22243	-1.0222	10	0.27785	T	0.31	.	0.4217	0.00457	0.3354:0.2065:0.2416:0.2164	.	4081	P04114	APOB_HUMAN	I	4081	ENSP00000233242:L4081I	ENSP00000233242:L4081I	L	-	1	0	APOB	21079558	0.000000	0.05858	0.001000	0.08648	0.410000	0.31052	-1.335000	0.02662	-1.148000	0.02847	-0.126000	0.14955	CTT		0.468	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1			81	88	1	0	2.37601e-23	1	2.64711e-23	81	88					T	21226053	G	T	21226053	3	4	435	1	0	0	0	0	1	0	0	0	785	1000	35	5	1454	5	APOB	2	21226053	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	355656	21226053	221973320	1006	21931											
APOB	338	broad.mit.edu	37	chr2	21231977	21231977	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caaggatggtcttgatttcaGgaacagtgaacccttgctct	10	12	10	9	0	3	2	1	2	2	0	3	4	3	4	1	3	3	1	1	3	3	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:21231977G>T	ENST00000233242.1	-	26	7890	c.7763C>A	c.(7762-7764)cCt>cAt	p.P2588H		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	2588					artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTTGATTTCAGGAACAGTGAA	0.448																																						ENST00000233242.1																			0				NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305						c.(7762-7764)cCt>cAt		apolipoprotein B	Atorvastatin(DB01076)						105	97	100					2																	21231977		2203	4300	6503	SO:0001583	missense	338				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	g.chr2:21231977G>T	M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"Apolipoproteins"	603	protein-coding gene	gene with protein product		107730	"apolipoprotein B (including Ag(x) antigen)"				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.7763C>A	2.37:g.21231977G>T	ENSP00000233242:p.Pro2588His						p.P2588H	NM_000384.2	NP_000375.2	P04114	APOB_HUMAN			26	7890	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		2588					O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Missense_Mutation	SNP	ENST00000233242.1	37	c.7763C>A	CCDS1703.1	.	.	.	.	.	.	.	.	.	.	G	15.06	2.721840	0.48728	.	.	ENSG00000084674	ENST00000233242;ENST00000535079	T	0.00832	5.64	5.16	5.16	0.70880	.	0.000000	0.53938	D	0.000044	T	0.05502	0.0145	M	0.66939	2.045	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.21999	-1.0229	10	0.87932	D	0	.	18.669	0.91504	0.0:0.0:1.0:0.0	.	2588	P04114	APOB_HUMAN	H	2588	ENSP00000233242:P2588H	ENSP00000233242:P2588H	P	-	2	0	APOB	21085482	1.000000	0.71417	0.945000	0.38365	0.353000	0.29299	4.024000	0.57218	2.404000	0.81709	0.561000	0.74099	CCT		0.448	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1			31	41	1	0	9.65021e-13	1	1.04556e-12	31	41					T	21231977	G	T	21231977	3	4	435	1	0	0	0	0	1	0	0	0	785	1000	35	5	5944	5	APOB	2	21231977	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	5924	21231977	221967396	1007	21932											
MFSD2B	388931	broad.mit.edu	37	chr2	24246538	24246538	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatcttctactcctcctacGtcttcttcaccaagctgtct	6	15	3	17	1	6	0	1	0	5	0	8	0	8	0	4	0	3	1	4	0	3	5	rs201173299		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:24246538G>A	ENST00000406420.3	+	12	1271	c.1255G>A	c.(1255-1257)Gtc>Atc	p.V419I	MFSD2B_ENST00000338315.4_Missense_Mutation_p.V419I	NM_001080473.1	NP_001073942.1	A6NFX1	MFS2B_HUMAN	major facilitator superfamily domain containing 2B	419					transport (GO:0006810)	integral component of membrane (GO:0016021)				cervix(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	10						CTCCTCCTACGTCTTCTTCAC	0.607																																						ENST00000338315.4																			0				cervix(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	10						c.(1255-1257)Gtc>Atc		major facilitator superfamily domain containing 2B		G	ILE/VAL	3,4319		0,3,2158	154	158	157		1255	5.3	1	2		157	0,8520		0,0,4260	yes	missense	MFSD2B	NM_001080473.1	29	0,3,6418	AA,AG,GG		0.0,0.0694,0.0234	possibly-damaging	419/498	24246538	3,12839	2161	4260	6421	SO:0001583	missense	388931				transport	integral to membrane		g.chr2:24246538G>A		CCDS46228.1	2p23.3	2010-05-11			ENSG00000205639	ENSG00000205639			37207	protein-coding gene	gene with protein product						18694395	Standard	NM_001080473		Approved		uc002reo.2	A6NFX1	OTTHUMG00000090819	ENST00000406420.3:c.1255G>A	2.37:g.24246538G>A	ENSP00000385527:p.Val419Ile					MFSD2B_ENST00000406420.3_Missense_Mutation_p.V419I	p.V419I			A6NFX1	MFS2B_HUMAN			12	1255	+			419					B5MC32	Missense_Mutation	SNP	ENST00000406420.3	37	c.1255G>A	CCDS46228.1	.	.	.	.	.	.	.	.	.	.	G	19.95	3.921822	0.73213	6.94E-4	0.0	ENSG00000205639	ENST00000406420;ENST00000338315	D;D	0.87412	-2.25;-2.25	5.28	5.28	0.74379	Major facilitator superfamily domain, general substrate transporter (1);	0.057544	0.64402	D	0.000002	D	0.91855	0.7422	M	0.69185	2.1	0.58432	D	0.99999	D	0.64830	0.994	P	0.62491	0.903	D	0.92232	0.5793	10	0.62326	D	0.03	-44.0427	16.782	0.85565	0.0:0.0:1.0:0.0	.	419	A6NFX1	MFS2B_HUMAN	I	419	ENSP00000385527:V419I;ENSP00000342501:V419I	ENSP00000342501:V419I	V	+	1	0	MFSD2B	24100042	1.000000	0.71417	0.966000	0.40874	0.190000	0.23558	9.752000	0.98900	2.646000	0.89796	0.555000	0.69702	GTC		0.607	MFSD2B-001	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000324307.1	NM_001080473		32	58	0	0	0	1	0	32	58					A	24246538	G	A	24246538	3	1	435	1	0	0	0	0	1	0	0	0	9531	1145	40	1	1301	1	MFSD2B	2	24246538	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	3014561	24246538	218952835	1008	21933											
C2orf44	80304	broad.mit.edu	37	chr2	24261860	24261860	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tactgccaccaccagcctcaGgccatcctgggtccaacatg	9	7	8	17	0	1	0	1	0	0	0	3	0	3	0	7	2	4	0	7	2	2	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:24261860G>T	ENST00000295148.4	-	2	562	c.505C>A	c.(505-507)Ctg>Atg	p.L169M	C2orf44_ENST00000406895.3_Missense_Mutation_p.L169M	NM_025203.2	NP_079479.1	Q9H6R7	CB044_HUMAN	chromosome 2 open reading frame 44	169									C2orf44/ALK(2)	breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	24	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ACCAGCCTCAGGCCATCCTGG	0.527			T	ALK	NSCLC																																	ENST00000295148.4				Dom	yes		2	2p23.3	80304	T	chromosome 2 open reading frame 44			E	ALK		NSCLC	C2orf44/ALK(2)	0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	24						c.(505-507)Ctg>Atg		chromosome 2 open reading frame 44							54	48	50					2																	24261860		2203	4300	6503	SO:0001583	missense	80304						protein binding	g.chr2:24261860G>T	AK025598	CCDS1705.1, CCDS46229.1	2p23.3	2012-07-30			ENSG00000163026	ENSG00000163026			26157	protein-coding gene	gene with protein product						22327622	Standard	NM_025203		Approved	FLJ21945	uc002rep.2	Q9H6R7	OTTHUMG00000125498	ENST00000295148.4:c.505C>A	2.37:g.24261860G>T	ENSP00000295148:p.Leu169Met					C2orf44_ENST00000406895.3_Missense_Mutation_p.L169M	p.L169M	NM_025203.2	NP_079479.1	Q9H6R7	CB044_HUMAN			2	562	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		169					D6W532|Q8IYK0|Q9HBP5	Missense_Mutation	SNP	ENST00000295148.4	37	c.505C>A	CCDS1705.1	.	.	.	.	.	.	.	.	.	.	G	14.65	2.597798	0.46318	.	.	ENSG00000163026	ENST00000295148;ENST00000406895;ENST00000443232	T;T;T	0.51574	3.43;3.43;0.7	5.24	4.3	0.51218	WD40/YVTN repeat-like-containing domain (1);	0.346455	0.32028	N	0.006689	T	0.23410	0.0566	N	0.08118	0	0.25133	N	0.990556	P;P	0.45348	0.856;0.856	B;B	0.34242	0.178;0.178	T	0.19778	-1.0295	10	0.51188	T	0.08	-1.025	11.5955	0.50970	0.0:0.0:0.6531:0.3469	.	169;169	Q9H6R7-2;Q9H6R7	.;CB044_HUMAN	M	169	ENSP00000295148:L169M;ENSP00000385816:L169M;ENSP00000413426:L169M	ENSP00000295148:L169M	L	-	1	2	C2orf44	24115364	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	6.864000	0.75494	2.618000	0.88619	0.655000	0.94253	CTG		0.527	C2orf44-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000246825.1	NM_025203		10	13	1	0	6.40141e-05	1	6.5734e-05	10	13					T	24261860	G	T	24261860	3	4	435	1	0	0	0	0	1	0	0	0	2168	991	35	5	1672	5	C2orf44	2	24261860	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	15322	24261860	218937513	1009	21934											
C2orf84	653140	broad.mit.edu	37	chr2	24406394	24406394	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttccataaaagaacttgaagAaatagagaaggccaggctgc	17	7	10	7	0	0	4	0	1	0	3	1	5	1	4	2	2	2	1	2	2	7	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:24406394A>G	ENST00000295150.3	+	5	367	c.281A>G	c.(280-282)gAa>gGa	p.E94G	RP11-507M3.1_ENST00000584973.1_3'UTR	NM_001040710.1	NP_001035800.1	Q86W67	F228A_HUMAN	family with sequence similarity 228, member A	94																	GAACTTGAAGAAATAGAGAAG	0.433																																						ENST00000295150.3																			0											c.(280-282)gAa>gGa		family with sequence similarity 228, member A							63	58	60					2																	24406394		1853	4097	5950	SO:0001583	missense	653140							g.chr2:24406394A>G		CCDS42659.1	2p23.3	2012-07-04	2012-07-04	2012-07-04	ENSG00000186453	ENSG00000186453			34418	protein-coding gene	gene with protein product			"chromosome 2 open reading frame 84"	C2orf84			Standard	NM_001040710		Approved	FLJ30851	uc002rfc.3	Q86W67	OTTHUMG00000151903	ENST00000295150.3:c.281A>G	2.37:g.24406394A>G	ENSP00000295150:p.Glu94Gly					RP11-507M3.1_ENST00000584973.1_3'UTR	p.E94G	NM_001040710.1	NP_001035800.1					5	367	+									Missense_Mutation	SNP	ENST00000295150.3	37	c.281A>G	CCDS42659.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	15.60|15.60	2.881848|2.881848	0.51908|0.51908	.|.	.|.	ENSG00000186453|ENSG00000186453	ENST00000295150|ENST00000432434	T|.	0.61742|.	0.08|.	4.47|4.47	2.05|2.05	0.26809|0.26809	.|.	0.237591|.	0.32671|.	N|.	0.005794|.	T|T	0.42359|0.42359	0.1199|0.1199	L|L	0.58810|0.58810	1.83|1.83	0.09310|0.09310	N|N	1|1	D|.	0.89917|.	1.0|.	D|.	0.85130|.	0.997|.	T|T	0.30208|0.30208	-0.9986|-0.9986	10|5	0.87932|.	D|.	0|.	-12.0574|-12.0574	6.3829|6.3829	0.21544|0.21544	0.7925:0.0:0.2075:0.0|0.7925:0.0:0.2075:0.0	.|.	94|.	Q86W67|.	CB084_HUMAN|.	G|E	94|132	ENSP00000295150:E94G|.	ENSP00000295150:E94G|.	E|K	+|+	2|1	0|0	C2orf84|C2orf84	24259898|24259898	0.358000|0.358000	0.24947|0.24947	0.003000|0.003000	0.11579|0.11579	0.329000|0.329000	0.28539|0.28539	0.815000|0.815000	0.27253|0.27253	0.309000|0.309000	0.22966|0.22966	0.455000|0.455000	0.32223|0.32223	GAA|AAA		0.433	FAM228A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324342.1	NM_001040710		12	31	0	0	0	1	0	12	31					G	24406394	A	G	24406394	3	3	435	1	0	0	0	0	1	0	0	0	2199	246	9	4	295	4	C2orf84	2	24406394	Missense_Mutation	SNP	A	TCGA-XK-AAIW-01A-11D-A41K-08	144534	24406394	218792979	1010	21935											
ITSN2	50618	broad.mit.edu	37	chr2	24427160	24427160	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacagggtgagacacagcacGtcttggtagagatccttaat	13	9	11	8	1	1	2	0	1	1	2	2	4	2	2	1	2	2	2	1	2	3	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:24427160G>A	ENST00000355123.4	-	39	5333	c.4890C>T	c.(4888-4890)gaC>gaT	p.D1630D	ITSN2_ENST00000361999.3_Silent_p.D1603D|AC008073.9_ENST00000429717.1_RNA	NM_006277.2	NP_006268.2	Q9NZM3	ITSN2_HUMAN	intersectin 2	1630	C2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				endocytosis (GO:0006897)|positive regulation of signal transduction (GO:0009967)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|SH3/SH2 adaptor activity (GO:0005070)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(8)|large_intestine(11)|liver(3)|lung(28)|ovary(2)|stomach(1)	61	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GACACAGCACGTCTTGGTAGA	0.498																																						ENST00000355123.4																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(8)|large_intestine(11)|liver(3)|lung(28)|ovary(2)|stomach(1)	61						c.(4888-4890)gaC>gaT		intersectin 2							134	129	131					2																	24427160		2203	4300	6503	SO:0001819	synonymous_variant	50618				endocytosis|regulation of Rho protein signal transduction	cytoplasm	calcium ion binding|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity	g.chr2:24427160G>A	AB033082	CCDS1710.2, CCDS1711.2, CCDS46230.1	2p23.3	2013-09-19	2002-10-30		ENSG00000198399	ENSG00000198399		"Rho guanine nucleotide exchange factors", "EF-hand domain containing"	6184	protein-coding gene	gene with protein product	"SH3 domain protein 1B", "SH3P18-like WASP associated protein"	604464	"SH3 domain protein 1B"	SH3D1B		10922467, 11748279	Standard	NM_006277		Approved	KIAA1256, SWAP, SH3P18, SWA, PRO2015	uc002rfe.2	Q9NZM3	OTTHUMG00000090818	ENST00000355123.4:c.4890C>T	2.37:g.24427160G>A						ITSN2_ENST00000361999.3_Silent_p.D1603D	p.D1630D	NM_006277.2	NP_006268.2	Q9NZM3	ITSN2_HUMAN			39	5333	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		1630			C2.		O95062|Q15812|Q9HAK4|Q9NXE6|Q9NYG0|Q9NZM2|Q9ULG4	Silent	SNP	ENST00000355123.4	37	c.4890C>T	CCDS1710.2																																																																																				0.498	ITSN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207620.2	NM_006277		30	45	0	0	0	1	0	30	45					A	24427160	G	A	24427160	2	1	435	1	0	0	0	0	0	0	0	1	7927	1136	40	1		1	ITSN2	2	24427160	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	20766	24427160	218772213	1011	21936											
ITSN2	50618	broad.mit.edu	37	chr2	24433672	24433672	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcgaggccttcacactgcaCgtgcgcctggatccactcca	7	7	10	17	4	1	0	1	0	0	0	3	2	3	1	4	2	2	1	4	2	0	1	rs372075368		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:24433672C>T	ENST00000355123.4	-	34	4677	c.4234G>A	c.(4234-4236)Gtg>Atg	p.V1412M	ITSN2_ENST00000361999.3_Missense_Mutation_p.V1385M	NM_006277.2	NP_006268.2	Q9NZM3	ITSN2_HUMAN	intersectin 2	1412					endocytosis (GO:0006897)|positive regulation of signal transduction (GO:0009967)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|SH3/SH2 adaptor activity (GO:0005070)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(8)|large_intestine(11)|liver(3)|lung(28)|ovary(2)|stomach(1)	61	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TCACACTGCACGTGCGCCTGG	0.632																																						ENST00000355123.4																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(8)|large_intestine(11)|liver(3)|lung(28)|ovary(2)|stomach(1)	61						c.(4234-4236)Gtg>Atg		intersectin 2		C	MET/VAL,MET/VAL	1,4405	2.1+/-5.4	0,1,2202	78	68	72		4234,4153	2.9	0	2		72	0,8600		0,0,4300	no	missense,missense	ITSN2	NM_006277.2,NM_019595.3	21,21	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging,probably-damaging	1412/1698,1385/1671	24433672	1,13005	2203	4300	6503	SO:0001583	missense	50618				endocytosis|regulation of Rho protein signal transduction	cytoplasm	calcium ion binding|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity	g.chr2:24433672C>T	AB033082	CCDS1710.2, CCDS1711.2, CCDS46230.1	2p23.3	2013-09-19	2002-10-30		ENSG00000198399	ENSG00000198399		"Rho guanine nucleotide exchange factors", "EF-hand domain containing"	6184	protein-coding gene	gene with protein product	"SH3 domain protein 1B", "SH3P18-like WASP associated protein"	604464	"SH3 domain protein 1B"	SH3D1B		10922467, 11748279	Standard	NM_006277		Approved	KIAA1256, SWAP, SH3P18, SWA, PRO2015	uc002rfe.2	Q9NZM3	OTTHUMG00000090818	ENST00000355123.4:c.4234G>A	2.37:g.24433672C>T	ENSP00000347244:p.Val1412Met					ITSN2_ENST00000361999.3_Missense_Mutation_p.V1385M	p.V1412M	NM_006277.2	NP_006268.2	Q9NZM3	ITSN2_HUMAN			34	4677	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		1412					O95062|Q15812|Q9HAK4|Q9NXE6|Q9NYG0|Q9NZM2|Q9ULG4	Missense_Mutation	SNP	ENST00000355123.4	37	c.4234G>A	CCDS1710.2	.	.	.	.	.	.	.	.	.	.	C	11.79	1.742953	0.30865	2.27E-4	0.0	ENSG00000198399	ENST00000361999;ENST00000355123;ENST00000380868	T;T;T	0.33216	1.42;1.42;1.42	4.72	2.89	0.33648	Dbl homology (DH) domain (1);Pleckstrin homology-type (1);	0.000000	0.33515	U	0.004834	T	0.49508	0.1561	M	0.80616	2.505	0.47183	D	0.999343	D;D	0.67145	0.996;0.989	P;P	0.59221	0.854;0.578	T	0.56001	-0.8051	10	0.87932	D	0	.	10.5132	0.44874	0.0:0.8416:0.0:0.1584	.	1385;1412	Q9NZM3-2;Q9NZM3	.;ITSN2_HUMAN	M	1385;1412;1385	ENSP00000354561:V1385M;ENSP00000347244:V1412M;ENSP00000370250:V1385M	ENSP00000347244:V1412M	V	-	1	0	ITSN2	24287176	0.998000	0.40836	0.026000	0.17262	0.341000	0.28922	3.763000	0.55257	1.128000	0.42052	-0.237000	0.12165	GTG		0.632	ITSN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207620.2	NM_006277		11	26	0	0	0	1	0	11	26					T	24433672	C	T	24433672	3	4	435	1	0	0	0	0	1	0	0	0	7927	536	19	1	887	1	ITSN2	2	24433672	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	6512	24433672	218765701	1012	21937											
DNMT3A	1788	broad.mit.edu	37	chr2	25468929	25468929	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tgccgcacctcgtacaccagCcgctctgcaaggggaggaga	9	5	13	14	3	1	1	0	0	1	1	2	3	1	2	4	3	4	4	4	3	2	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:25468929C>T	ENST00000264709.3	-	12	1771	c.1434G>A	c.(1432-1434)cgG>cgA	p.R478R	DNMT3A_ENST00000321117.5_Silent_p.R478R|DNMT3A_ENST00000402667.1_Silent_p.R255R|DNMT3A_ENST00000380746.4_Silent_p.R289R|DNMT3A_ENST00000474887.1_5'Flank	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN	DNA (cytosine-5-)-methyltransferase 3 alpha	478					C-5 methylation of cytosine (GO:0090116)|cellular response to amino acid stimulus (GO:0071230)|DNA methylation (GO:0006306)|DNA methylation involved in embryo development (GO:0043045)|DNA methylation involved in gamete generation (GO:0043046)|DNA methylation on cytosine within a CG sequence (GO:0010424)|hypermethylation of CpG island (GO:0044027)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of gene expression by genetic imprinting (GO:0006349)|S-adenosylhomocysteine metabolic process (GO:0046498)|S-adenosylmethioninamine metabolic process (GO:0046499)|spermatogenesis (GO:0007283)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|euchromatin (GO:0000791)|nuclear heterochromatin (GO:0005720)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA (cytosine-5-)-methyltransferase activity, acting on CpG substrates (GO:0051718)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|unmethylated CpG binding (GO:0045322)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CGTACACCAGCCGCTCTGCAA	0.627			"Mis, F, N, S"		AML																																	ENST00000264709.3				Rec	yes		2	2p23	1788	"Mis, F, N, S"	DNA (cytosine-5-)-methyltransferase 3 alpha			L			AML		0				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021						c.(1432-1434)cgG>cgA		DNA (cytosine-5-)-methyltransferase 3 alpha							97	82	87					2																	25468929		2203	4300	6503	SO:0001819	synonymous_variant	1788				regulation of gene expression by genetic imprinting	cytoplasm|euchromatin|nuclear matrix	DNA (cytosine-5-)-methyltransferase activity|DNA binding|metal ion binding|protein binding	g.chr2:25468929C>T		CCDS1718.2, CCDS33157.1, CCDS46232.1	2p23	2014-09-17			ENSG00000119772	ENSG00000119772			2978	protein-coding gene	gene with protein product		602769				9662389, 10433969	Standard	NM_175630		Approved		uc002rgc.4	Q9Y6K1	OTTHUMG00000094777	ENST00000264709.3:c.1434G>A	2.37:g.25468929C>T						DNMT3A_ENST00000321117.5_Silent_p.R478R|DNMT3A_ENST00000402667.1_Silent_p.R255R|DNMT3A_ENST00000380746.4_Silent_p.R289R	p.R478R	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN			12	1771	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		478					E9PEB8|Q86TE8|Q86XF5|Q8IZV0|Q8WXU9	Silent	SNP	ENST00000264709.3	37	c.1434G>A	CCDS33157.1																																																																																				0.627	DNMT3A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000211587.1	NM_022552		7	41	0	0	0	1	0	7	41					T	25468929	C	T	25468929	2	4	435	1	0	0	0	0	0	0	0	1	4676	726	26	3		3	DNMT3A	2	25468929	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	1035257	25468929	217730444	1013	21938											
ASXL2	55252	broad.mit.edu	37	chr2	25966166	25966166	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	cagctgctgctgcgtagctgGatgggactgtctctcattaa	7	12	12	10	1	2	0	1	0	1	0	3	2	2	2	0	2	5	5	0	2	2	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:25966166G>A	ENST00000435504.4	-	13	3333	c.3040C>T	c.(3040-3042)Cca>Tca	p.P1014S	ASXL2_ENST00000336112.4_Missense_Mutation_p.P986S|ASXL2_ENST00000404843.1_Intron|ASXL2_ENST00000272341.4_Intron			Q76L83	ASXL2_HUMAN	additional sex combs like transcriptional regulator 2	1014					adult heart development (GO:0007512)|embryonic skeletal system morphogenesis (GO:0048704)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of bone mineralization involved in bone maturation (GO:1900159)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of histone H3-K27 trimethylation (GO:1902466)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035360)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|peroxisome proliferator activated receptor binding (GO:0042975)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(3)	33	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGCGTAGCTGGATGGGACTGT	0.527																																						ENST00000435504.4																			0				NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(3)	33						c.(3040-3042)Cca>Tca		additional sex combs like 2 (Drosophila)							60	63	62					2																	25966166		1962	4166	6128	SO:0001583	missense	55252				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|protein binding	g.chr2:25966166G>A			2p24.1	2014-06-17	2014-06-17		ENSG00000143970	ENSG00000143970			23805	protein-coding gene	gene with protein product		612991	"additional sex combs like 2 (Drosophila)"			12888926	Standard	NM_018263		Approved	ASXH2, FLJ10898, KIAA1685	uc002rgs.2	Q76L83	OTTHUMG00000152176	ENST00000435504.4:c.3040C>T	2.37:g.25966166G>A	ENSP00000391447:p.Pro1014Ser					ASXL2_ENST00000336112.4_Missense_Mutation_p.P986S|ASXL2_ENST00000272341.4_Intron|ASXL2_ENST00000404843.1_Intron	p.P1014S			Q76L83	ASXL2_HUMAN			13	3333	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		1014					Q53TC9|Q5H9U4|Q76L81|Q86XM1|Q9C0H8|Q9NV67	Missense_Mutation	SNP	ENST00000435504.4	37	c.3040C>T		.	.	.	.	.	.	.	.	.	.	G	3.315	-0.139905	0.06669	.	.	ENSG00000143970	ENST00000435504;ENST00000336112	T;T	0.20738	2.05;2.05	6.07	5.18	0.71444	.	0.492413	0.22881	N	0.054519	T	0.26122	0.0637	L	0.56769	1.78	0.09310	N	0.999999	D	0.57899	0.981	P	0.49012	0.598	T	0.33343	-0.9872	10	0.87932	D	0	-1.8346	5.3627	0.16098	0.0753:0.1447:0.6297:0.1502	.	1014	Q76L83	ASXL2_HUMAN	S	1014;986	ENSP00000391447:P1014S;ENSP00000337250:P986S	ENSP00000337250:P986S	P	-	1	0	ASXL2	25819670	0.001000	0.12720	0.120000	0.21714	0.075000	0.17131	1.115000	0.31209	1.537000	0.49254	0.655000	0.94253	CCA		0.527	ASXL2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000325593.3	NM_018263		10	11	0	0	0	1	0	10	11					A	25966166	G	A	25966166	3	1	435	1	0	0	0	0	1	0	0	0	1067	1174	41	3	1271	3	ASXL2	2	25966166	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	497237	25966166	217233207	1014	21939											
GPR113	165082	broad.mit.edu	37	chr2	26534169	26534169	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accatgttgagcagggcggcGtggcggaaataggagatctt	10	8	16	7	3	1	2	0	1	1	1	1	4	1	3	1	5	1	2	1	5	2	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:26534169G>A	ENST00000311519.1	-	11	2426	c.2427C>T	c.(2425-2427)caC>caT	p.H809H	GPR113_ENST00000541401.1_Silent_p.H412H|GPR113_ENST00000333478.6_Silent_p.H610H|GPR113_ENST00000459892.1_5'UTR|GPR113_ENST00000421160.2_Silent_p.H740H	NM_001145168.1	NP_001138640.1	Q8IZF5	GP113_HUMAN	G protein-coupled receptor 113	809					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(4)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	24	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCAGGGCGGCGTGGCGGAAAT	0.622																																						ENST00000333478.6																			0				NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(4)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	24						c.(1828-1830)caC>caT		G protein-coupled receptor 113							70	56	60					2																	26534169		2203	4300	6503	SO:0001819	synonymous_variant	165082				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr2:26534169G>A	AB083619	CCDS33159.2, CCDS46238.1, CCDS46239.1	2p24.1	2014-08-08			ENSG00000173567	ENSG00000173567		"-", "GPCR / Class B : Orphans"	18989	protein-coding gene	gene with protein product						12435584	Standard	NM_153835		Approved	hGPCR37, PGR23	uc002rhe.4	Q8IZF5	OTTHUMG00000150225	ENST00000311519.1:c.2427C>T	2.37:g.26534169G>A						GPR113_ENST00000311519.1_Silent_p.H809H|GPR113_ENST00000541401.1_Silent_p.H412H|GPR113_ENST00000459892.1_5'UTR|GPR113_ENST00000421160.2_Silent_p.H740H	p.H610H	NM_153835.3	NP_722577.2	Q8IZF5	GP113_HUMAN			8	2412	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		809					B4DF15|E9PEV1|Q53TA5|Q6UXT7|Q6UXX3|Q86SL7|Q8IXD8|Q8TDT3	Silent	SNP	ENST00000311519.1	37	c.1830C>T	CCDS46239.1																																																																																				0.622	GPR113-004	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000316892.1	NM_153835		5	11	0	0	0	1	0	5	11					A	26534169	G	A	26534169	2	1	435	1	0	0	0	0	0	0	0	1	6630	1136	40	1		1	GPR113	2	26534169	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	568003	26534169	216665204	1015	21940											
GPR113	165082	broad.mit.edu	37	chr2	26539917	26539917	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtacatagacggagaccagcGctgattctacaggagcagag	13	6	13	9	2	1	4	0	1	1	3	1	6	1	5	1	2	4	3	1	2	3	4	rs180836893		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:26539917G>A	ENST00000311519.1	-	4	364	c.365C>T	c.(364-366)gCg>gTg	p.A122V	GPR113_ENST00000541401.1_Intron|GPR113_ENST00000333478.6_Missense_Mutation_p.A63V|GPR113_ENST00000459892.1_5'UTR|GPR113_ENST00000421160.2_Missense_Mutation_p.A53V	NM_001145168.1	NP_001138640.1	Q8IZF5	GP113_HUMAN	G protein-coupled receptor 113	122					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(4)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	24	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGAGACCAGCGCTGATTCTAC	0.592													G|||	1	0.000199681	8e-04	0	5008	,	,		17071	0		0	False		,,,				2504	0					ENST00000333478.6																			0				NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(4)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	24						c.(187-189)gCg>gTg		G protein-coupled receptor 113							52	52	52					2																	26539917		2203	4300	6503	SO:0001583	missense	165082				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr2:26539917G>A	AB083619	CCDS33159.2, CCDS46238.1, CCDS46239.1	2p24.1	2014-08-08			ENSG00000173567	ENSG00000173567		"-", "GPCR / Class B : Orphans"	18989	protein-coding gene	gene with protein product						12435584	Standard	NM_153835		Approved	hGPCR37, PGR23	uc002rhe.4	Q8IZF5	OTTHUMG00000150225	ENST00000311519.1:c.365C>T	2.37:g.26539917G>A	ENSP00000307831:p.Ala122Val					GPR113_ENST00000311519.1_Missense_Mutation_p.A122V|GPR113_ENST00000541401.1_Intron|GPR113_ENST00000459892.1_5'UTR|GPR113_ENST00000421160.2_Missense_Mutation_p.A53V	p.A63V	NM_153835.3	NP_722577.2	Q8IZF5	GP113_HUMAN			3	770	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		122					B4DF15|E9PEV1|Q53TA5|Q6UXT7|Q6UXX3|Q86SL7|Q8IXD8|Q8TDT3	Missense_Mutation	SNP	ENST00000311519.1	37	c.188C>T	CCDS46239.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	12.38	1.919185	0.33908	.	.	ENSG00000173567	ENST00000333478;ENST00000421160;ENST00000311519;ENST00000433584	T;T;T	0.28666	1.64;1.73;1.6	4.57	-6.61	0.01818	.	.	.	.	.	T	0.13415	0.0325	N	0.05124	-0.11	0.09310	N	1	B;B;B	0.10296	0.003;0.001;0.002	B;B;B	0.04013	0.001;0.001;0.001	T	0.36841	-0.9731	9	0.18276	T	0.48	-35.3905	15.0522	0.71881	0.2292:0.0:0.7708:0.0	.	53;63;122	E9PEV1;Q8IZF5-2;Q8IZF5	.;.;GP113_HUMAN	V	63;53;122;63	ENSP00000327396:A63V;ENSP00000388537:A53V;ENSP00000307831:A122V	ENSP00000307831:A122V	A	-	2	0	GPR113	26393421	0.000000	0.05858	0.000000	0.03702	0.093000	0.18481	-0.387000	0.07361	-1.272000	0.02427	-0.424000	0.05967	GCG		0.592	GPR113-004	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000316892.1	NM_153835		8	6	0	0	0	1	0	8	6					A	26539917	G	A	26539917	3	1	435	1	0	0	0	0	1	0	0	0	6630	1087	38	1	3003	1	GPR113	2	26539917	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	5748	26539917	216659456	1016	21941											
OTOF	9381	broad.mit.edu	37	chr2	26696054	26696054	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gggccggtagatgaagcgtcGcagggagctgacggcatggg	8	5	20	8	4	0	3	0	2	0	1	1	4	0	4	1	5	2	4	1	5	2	1	rs111033478		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:26696054G>A	ENST00000272371.2	-	29	3805	c.3679C>T	c.(3679-3681)Cga>Tga	p.R1227*	OTOF_ENST00000339598.3_Nonsense_Mutation_p.R480*|OTOF_ENST00000402415.3_Nonsense_Mutation_p.R537*|OTOF_ENST00000403946.3_Nonsense_Mutation_p.R1227*|OTOF_ENST00000338581.6_Nonsense_Mutation_p.R480*	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN	otoferlin	1227					membrane fusion (GO:0061025)|sensory perception of sound (GO:0007605)|synaptic vesicle exocytosis (GO:0016079)	cell junction (GO:0030054)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synaptic vesicle membrane (GO:0030672)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ATGAAGCGTCGCAGGGAGCTG	0.677																																					GBM(102;732 1451 20652 24062 31372)	ENST00000272371.2																			0				NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106						c.(3679-3681)Cga>Tga		otoferlin							46	49	48					2																	26696054		2203	4299	6502	SO:0001587	stop_gained	9381				cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis	basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane	calcium ion binding	g.chr2:26696054G>A	AF107403	CCDS1724.1, CCDS1725.1, CCDS1726.1, CCDS46241.1, CCDS74497.1	2p23.1	2014-06-27			ENSG00000115155	ENSG00000115155			8515	protein-coding gene	gene with protein product	"fer-1-like family member 2"	603681		DFNB9		10192385, 18381613	Standard	NM_194248		Approved	FER1L2, DFNB6	uc002rhk.3	Q9HC10	OTTHUMG00000096977	ENST00000272371.2:c.3679C>T	2.37:g.26696054G>A	ENSP00000272371:p.Arg1227*					OTOF_ENST00000339598.3_Nonsense_Mutation_p.R480*|OTOF_ENST00000403946.3_Nonsense_Mutation_p.R1227*|OTOF_ENST00000338581.6_Nonsense_Mutation_p.R480*|OTOF_ENST00000402415.3_Nonsense_Mutation_p.R537*	p.R1227*	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN			29	3805	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		1227					B4DJX0|B5MCC1|B9A0H6|Q53R90|Q9HC08|Q9HC09|Q9Y650	Nonsense_Mutation	SNP	ENST00000272371.2	37	c.3679C>T	CCDS1725.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	22.4|22.4	4.281150|4.281150	0.80692|0.80692	.|.	.|.	ENSG00000115155|ENSG00000115155	ENST00000426958|ENST00000338581;ENST00000339598;ENST00000402415;ENST00000272371;ENST00000403946	.|.	.|.	.|.	4.57|4.57	1.66|1.66	0.24008|0.24008	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|.	0.39253|.	0.1071|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.40365|.	-0.9567|.	3|.	.|0.09590	.|T	.|0.72	-23.1265|-23.1265	12.5731|12.5731	0.56349|0.56349	0.0:0.0:0.5795:0.4205|0.0:0.0:0.5795:0.4205	.|.	.|.	.|.	.|.	V|X	82|480;480;537;1227;1227	.|.	.|ENSP00000272371:R1227X	A|R	-|-	2|1	0|2	OTOF|OTOF	26549558|26549558	0.314000|0.314000	0.24563|0.24563	0.952000|0.952000	0.39060|0.39060	0.919000|0.919000	0.55068|0.55068	0.906000|0.906000	0.28517|0.28517	0.023000|0.023000	0.15187|0.15187	0.305000|0.305000	0.20034|0.20034	GCG|CGA		0.677	OTOF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214047.3			13	16	0	0	0	1	0	13	16					A	26696054	G	A	26696054	4	1	435	1	0	0	0	0	0	1	0	0	11303	1095	38	1	2571	1	OTOF	2	26696054	Nonsense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	156137	26696054	216503319	1017	21942											
C2orf18	54978	broad.mit.edu	37	chr2	27001128	27001128	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgtcaccaaggaactgagcGccaccacccgcatggtgttg	9	6	12	14	3	1	1	1	1	0	0	1	2	1	2	4	2	2	2	4	2	2	1	rs536311747		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:27001128G>A	ENST00000344420.5	+	6	927	c.865G>A	c.(865-867)Gcc>Acc	p.A289T	CENPA_ENST00000475662.1_Intron|SLC35F6_ENST00000416475.2_Missense_Mutation_p.A206T	NM_017877.3	NP_060347.2	Q8N357	S35F6_HUMAN	solute carrier family 35, member F6	289					negative regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway (GO:1901029)|positive regulation of cell proliferation (GO:0008284)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|mitochondrion (GO:0005739)		p.A289T(1)									GGAACTGAGCGCCACCACCCG	0.617																																						ENST00000344420.5																			1	Substitution - Missense(1)	p.A289T(1)	large_intestine(1)								c.(865-867)Gcc>Acc		solute carrier family 35, member F6							139	110	120					2																	27001128		2203	4300	6503	SO:0001583	missense	54978							g.chr2:27001128G>A	AK075164	CCDS1728.1	2p24.1	2012-12-13	2012-12-07	2012-12-07	ENSG00000213699	ENSG00000213699			26055	protein-coding gene	gene with protein product	"ANT2-binding protein", "transport and golgi organization 9 homolog (Drosophila)"		"chromosome 2 open reading frame 18"	C2orf18		15911612, 19154410	Standard	NM_017877		Approved	FLJ20555, ANT2BP, TANGO9	uc002rhp.1	Q8N357	OTTHUMG00000128407	ENST00000344420.5:c.865G>A	2.37:g.27001128G>A	ENSP00000345528:p.Ala289Thr					CENPA_ENST00000475662.1_Intron|SLC35F6_ENST00000416475.2_Missense_Mutation_p.A206T	p.A289T	NM_017877.3	NP_060347.2					6	927	+								D6W543|Q53GK2|Q8NBX6|Q9NWX0	Missense_Mutation	SNP	ENST00000344420.5	37	c.865G>A	CCDS1728.1	.	.	.	.	.	.	.	.	.	.	G	35	5.514845	0.96402	.	.	ENSG00000213699	ENST00000344420;ENST00000416475	D;D	0.86432	-2.12;-2.12	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	D	0.94594	0.8258	M	0.89214	3.015	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.993;0.997	D	0.95126	0.8251	10	0.66056	D	0.02	.	17.867	0.88797	0.0:0.0:1.0:0.0	.	142;206;289	E7ET27;B4DLH2;Q8N357	.;.;CB018_HUMAN	T	289;206	ENSP00000345528:A289T;ENSP00000413413:A206T	ENSP00000345528:A289T	A	+	1	0	C2orf18	26854632	1.000000	0.71417	0.992000	0.48379	0.970000	0.65996	8.896000	0.92521	2.576000	0.86940	0.561000	0.74099	GCC		0.617	SLC35F6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250187.2	NM_017877		19	36	0	0	0	1	0	19	36					A	27001128	G	A	27001128	3	1	435	1	0	0	0	0	1	0	0	0	2158	1087	38	1	887	1	C2orf18	2	27001128	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	305074	27001128	216198245	1018	21943											
DPYSL5	56896	broad.mit.edu	37	chr2	27121448	27121448	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gactgcacccacgaggctgaCgtctacatcgagaatggcat	11	7	11	12	3	1	2	0	1	1	1	2	5	1	2	1	2	2	3	1	2	2	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:27121448C>T	ENST00000288699.6	+	2	239	c.81C>T	c.(79-81)gaC>gaT	p.D27D	DPYSL5_ENST00000401478.1_Silent_p.D27D	NM_001253724.1|NM_020134.3	NP_001240653.1|NP_064519.2	Q9BPU6	DPYL5_HUMAN	dihydropyrimidinase-like 5	27					axon guidance (GO:0007411)|nervous system development (GO:0007399)|pyrimidine nucleobase catabolic process (GO:0006208)|signal transduction (GO:0007165)	cytosol (GO:0005829)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides (GO:0016812)			breast(1)|endometrium(5)|large_intestine(2)|lung(13)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	27	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ACGAGGCTGACGTCTACATCG	0.572																																						ENST00000288699.6																			0				breast(1)|endometrium(5)|large_intestine(2)|lung(13)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	27						c.(79-81)gaC>gaT		dihydropyrimidinase-like 5							159	132	141					2																	27121448		2203	4300	6503	SO:0001819	synonymous_variant	56896				axon guidance|pyrimidine base catabolic process|signal transduction	cytosol	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides	g.chr2:27121448C>T	AF264015	CCDS1730.1	2p23.3	2008-02-05			ENSG00000157851	ENSG00000157851			20637	protein-coding gene	gene with protein product		608383				10851247, 11034345	Standard	NM_020134		Approved	CRMP5, Ulip6, CRMP-5, CRAM	uc002rhu.4	Q9BPU6	OTTHUMG00000097071	ENST00000288699.6:c.81C>T	2.37:g.27121448C>T						DPYSL5_ENST00000401478.1_Silent_p.D27D	p.D27D	NM_001253724.1|NM_020134.3	NP_001240653.1|NP_064519.2	Q9BPU6	DPYL5_HUMAN			2	239	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		27					Q8TCL6|Q9NQC4|Q9NRY9	Silent	SNP	ENST00000288699.6	37	c.81C>T	CCDS1730.1																																																																																				0.572	DPYSL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214187.2	NM_020134		4	80	0	0	0	1	0	4	80					T	27121448	C	T	27121448	2	4	435	1	0	0	0	0	0	0	0	1	4750	535	19	1		1	DPYSL5	2	27121448	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	120320	27121448	216077925	1019	21944											
AGBL5	60509	broad.mit.edu	37	chr2	27276350	27276350	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tatgaacatgaacaagcagaGcaagctgtattcccagggca	15	7	10	9	0	0	3	0	2	0	1	1	3	1	3	1	1	5	5	1	1	6	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:27276350G>A	ENST00000360131.4	+	3	455	c.296G>A	c.(295-297)aGc>aAc	p.S99N	AGBL5_ENST00000323064.8_Missense_Mutation_p.S99N|RP11-503P10.1_ENST00000607407.1_RNA	NM_021831.5	NP_068603.4	Q8NDL9	CBPC5_HUMAN	ATP/GTP binding protein-like 5	99					protein branching point deglutamylation (GO:0035611)|protein deglutamylation (GO:0035608)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	metallocarboxypeptidase activity (GO:0004181)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|pancreas(1)|prostate(2)|skin(1)	28	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AACAAGCAGAGCAAGCTGTAT	0.542																																						ENST00000360131.4																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|pancreas(1)|prostate(2)|skin(1)	28						c.(295-297)aGc>aAc		ATP/GTP binding protein-like 5							106	101	103					2																	27276350		2203	4300	6503	SO:0001583	missense	60509				protein branching point deglutamylation|proteolysis	cytosol|nucleus	metallocarboxypeptidase activity|tubulin binding|zinc ion binding	g.chr2:27276350G>A	BC007415	CCDS1732.3, CCDS42665.1	2p23.3	2014-06-23			ENSG00000084693	ENSG00000084693			26147	protein-coding gene	gene with protein product	"cytosolic carboxypeptidase 5"	615900				24022482	Standard	NM_001035507		Approved	FLJ21839, CCP5	uc002rie.3	Q8NDL9	OTTHUMG00000128406	ENST00000360131.4:c.296G>A	2.37:g.27276350G>A	ENSP00000353249:p.Ser99Asn					AGBL5_ENST00000323064.8_Missense_Mutation_p.S99N	p.S99N	NM_021831.5	NP_068603.4	Q8NDL9	CBPC5_HUMAN			3	455	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		99					A2VDI7|B7WPG9|B7Z7I7|D6W548|Q53SW0|Q53SZ0|Q96IK8|Q9H6V0|Q9H8P8	Missense_Mutation	SNP	ENST00000360131.4	37	c.296G>A	CCDS1732.3	.	.	.	.	.	.	.	.	.	.	G	17.41	3.383150	0.61845	.	.	ENSG00000084693	ENST00000453161;ENST00000323064;ENST00000360131	T;T	0.14144	2.55;2.53	5.67	4.77	0.60923	.	0.148973	0.85682	D	0.000000	T	0.19446	0.0467	L	0.43598	1.365	0.45554	D	0.998503	D;P;D	0.55605	0.972;0.935;0.967	P;P;P	0.52481	0.655;0.7;0.7	T	0.03514	-1.1029	10	0.15499	T	0.54	-8.1673	14.4094	0.67106	0.0:0.2811:0.7189:0.0	.	99;99;99	Q8NDL9;Q8NDL9-3;Q8NDL9-2	CBPC5_HUMAN;.;.	N	99	ENSP00000323681:S99N;ENSP00000353249:S99N	ENSP00000323681:S99N	S	+	2	0	AGBL5	27129854	1.000000	0.71417	0.997000	0.53966	0.988000	0.76386	4.996000	0.63914	1.351000	0.45789	0.561000	0.74099	AGC		0.542	AGBL5-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000309033.1	NM_021831		21	30	0	0	0	1	0	21	30					A	27276350	G	A	27276350	3	1	435	1	0	0	0	0	1	0	0	0	378	971	34	3	302	3	AGBL5	2	27276350	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	154902	27276350	215923023	1020	21945											
AGBL5	60509	broad.mit.edu	37	chr2	27282314	27282314	+	Intron	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcaacatgtgttcggttgtCtggggcattgctgggggaag	6	12	17	6	1	1	0	0	0	1	0	2	1	1	1	0	5	3	5	0	5	2	3	rs1058815		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:27282314C>A	ENST00000360131.4	+	11	2248				AGBL5_ENST00000323064.8_Missense_Mutation_p.L711M|RP11-195B17.1_ENST00000607659.1_RNA|AGBL5-IT1_ENST00000411862.1_RNA	NM_021831.5	NP_068603.4	Q8NDL9	CBPC5_HUMAN	ATP/GTP binding protein-like 5						protein branching point deglutamylation (GO:0035611)|protein deglutamylation (GO:0035608)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	metallocarboxypeptidase activity (GO:0004181)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|pancreas(1)|prostate(2)|skin(1)	28	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GTTCGGTTGTCTGGGGCATTG	0.557																																						ENST00000323064.8																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|pancreas(1)|prostate(2)|skin(1)	28						c.(2131-2133)Ctg>Atg		ATP/GTP binding protein-like 5							52	61	58					2																	27282314		2197	4294	6491	SO:0001627	intron_variant	60509				protein branching point deglutamylation|proteolysis	cytosol|nucleus	metallocarboxypeptidase activity|tubulin binding|zinc ion binding	g.chr2:27282314C>A	BC007415	CCDS1732.3, CCDS42665.1	2p23.3	2014-06-23			ENSG00000084693	ENSG00000084693			26147	protein-coding gene	gene with protein product	"cytosolic carboxypeptidase 5"	615900				24022482	Standard	NM_001035507		Approved	FLJ21839, CCP5	uc002rie.3	Q8NDL9	OTTHUMG00000128406	ENST00000360131.4:c.2089+42C>A	2.37:g.27282314C>A						AGBL5_ENST00000360131.4_Intron	p.L711M	NM_001035507.2	NP_001030584.1	Q8NDL9	CBPC5_HUMAN			11	2293	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		0					A2VDI7|B7WPG9|B7Z7I7|D6W548|Q53SW0|Q53SZ0|Q96IK8|Q9H6V0|Q9H8P8	Missense_Mutation	SNP	ENST00000360131.4	37	c.2131C>A	CCDS1732.3	.	.	.	.	.	.	.	.	.	.	C	11.94	1.788545	0.31685	.	.	ENSG00000084693	ENST00000323064	T	0.15603	2.41	5.76	2.12	0.27331	.	.	.	.	.	T	0.09818	0.0241	.	.	.	0.80722	D	1	B	0.26744	0.158	B	0.27715	0.082	T	0.21143	-1.0254	7	.	.	.	.	4.5113	0.11912	0.1413:0.3153:0.0:0.5434	.	711	Q8NDL9-3	.	M	711	ENSP00000323681:L711M	.	L	+	1	2	AGBL5	27135818	0.999000	0.42202	1.000000	0.80357	0.168000	0.22595	0.322000	0.19576	0.473000	0.27368	-0.302000	0.09304	CTG		0.557	AGBL5-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000309033.1	NM_021831		21	43	1	0	2.37509e-13	1	2.57931e-13	21	43					A	27282314	C	A	27282314	1	1	435	0	1	0	0	0	0	0	0	0	378	912	32	5		5	AGBL5	2	27282314	Intron	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	5964	27282314	215917059	1021	21946											
EMILIN1	11117	broad.mit.edu	37	chr2	27303628	27303628	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcttcctccgccctcgctacCgtgtggcctacaagacagtg	6	9	10	16	3	0	1	0	0	0	1	3	1	2	1	5	1	2	2	5	1	3	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:27303628C>T	ENST00000380320.4	+	3	818	c.319C>T	c.(319-321)Cgt>Tgt	p.R107C		NM_007046.3	NP_008977	Q9Y6C2	EMIL1_HUMAN	elastin microfibril interfacer 1	107	EMI. {ECO:0000255|PROSITE- ProRule:PRU00384}.				cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	collagen trimer (GO:0005581)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix constituent conferring elasticity (GO:0030023)	p.R107C(1)		breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(1)|lung(14)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	26	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCCTCGCTACCGTGTGGCCTA	0.637											OREG0014513	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000380320.4																			1	Substitution - Missense(1)	p.R107C(1)	lung(1)	breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(1)|lung(14)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	26						c.(319-321)Cgt>Tgt		elastin microfibril interfacer 1							52	41	44					2																	27303628		2203	4300	6503	SO:0001583	missense	11117				cell adhesion	collagen		g.chr2:27303628C>T	AF088916	CCDS1733.1	2p23.3-p23.2	2008-02-05			ENSG00000138080	ENSG00000138080		"EMI domain containing"	19880	protein-coding gene	gene with protein product		130660					Standard	NM_007046		Approved	DKFZp586M121, gp115	uc002rii.4	Q9Y6C2	OTTHUMG00000097069	ENST00000380320.4:c.319C>T	2.37:g.27303628C>T	ENSP00000369677:p.Arg107Cys		OREG0014513	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	793		p.R107C	NM_007046.3	NP_008977.1	Q9Y6C2	EMIL1_HUMAN			3	818	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		107			EMI.		A5PL03|H0Y7A0|Q53SY9|Q96G58|Q96IH6|Q9UG76	Missense_Mutation	SNP	ENST00000380320.4	37	c.319C>T	CCDS1733.1	.	.	.	.	.	.	.	.	.	.	C	27.2	4.810531	0.90707	.	.	ENSG00000138080	ENST00000380320	T	0.55588	0.51	6.07	5.12	0.69794	EMI domain (2);	0.064290	0.56097	D	0.000023	T	0.67608	0.2911	L	0.60455	1.87	0.49389	D	0.999789	D	0.89917	1.0	D	0.76071	0.987	T	0.68808	-0.5311	10	0.87932	D	0	-14.6297	13.3525	0.60609	0.1674:0.8326:0.0:0.0	.	107	Q9Y6C2	EMIL1_HUMAN	C	107	ENSP00000369677:R107C	ENSP00000369677:R107C	R	+	1	0	EMILIN1	27157132	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.423000	0.52756	2.884000	0.98904	0.655000	0.94253	CGT		0.637	EMILIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214185.1	NM_007046		10	13	0	0	0	1	0	10	13					T	27303628	C	T	27303628	3	4	435	1	0	0	0	0	1	0	0	0	5093	652	23	2	329	2	EMILIN1	2	27303628	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	21314	27303628	215895745	1022	21947											
KHK	3795	broad.mit.edu	37	chr2	27315233	27315233	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agatggcagcgcggaggcaaCgcgtccaactcctgcaccgt	9	5	13	14	5	0	1	0	0	0	1	2	2	2	2	3	3	4	3	3	3	2	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:27315233C>T	ENST00000260599.6	+	2	639	c.126C>T	c.(124-126)aaC>aaT	p.N42N	KHK_ENST00000490823.1_3'UTR|KHK_ENST00000260598.5_Silent_p.N42N	NM_000221.2	NP_000212.1	P50053	KHK_HUMAN	ketohexokinase (fructokinase)	42					carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|fructose catabolic process (GO:0006001)|regulation of glycogen metabolic process (GO:0070873)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ketohexokinase activity (GO:0004454)			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCGGAGGCAACGCGTCCAACT	0.617																																						ENST00000260599.6																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	16						c.(124-126)aaC>aaT		ketohexokinase (fructokinase)							88	75	79					2																	27315233		2203	4300	6503	SO:0001819	synonymous_variant	3795				fructose catabolic process	cytosol	ATP binding|ketohexokinase activity|protein binding	g.chr2:27315233C>T		CCDS1734.1, CCDS1735.1	2p23.3-p23.2	2008-02-05			ENSG00000138030	ENSG00000138030	2.7.1.3		6315	protein-coding gene	gene with protein product		614058				7833921	Standard	NM_000221		Approved		uc002rim.2	P50053	OTTHUMG00000097077	ENST00000260599.6:c.126C>T	2.37:g.27315233C>T						KHK_ENST00000260598.5_Silent_p.N42N|KHK_ENST00000490823.1_3'UTR	p.N42N	NM_000221.2	NP_000212.1	P50053	KHK_HUMAN			2	639	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		42					Q6IBK2|Q99532|Q9BRJ3|Q9UMN1	Silent	SNP	ENST00000260599.6	37	c.126C>T	CCDS1734.1																																																																																				0.617	KHK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214196.1			30	43	0	0	0	1	0	30	43					T	27315233	C	T	27315233	2	4	435	1	0	0	0	0	0	0	0	1	8149	535	19	1		1	KHK	2	27315233	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	11605	27315233	215884140	1023	21948											
KHK	3795	broad.mit.edu	37	chr2	27320416	27320416	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agatgctgcagcggatagacGcacacaacaccaggcagcct	13	4	11	13	2	0	2	0	0	0	2	0	3	0	3	2	2	5	4	2	2	2	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:27320416G>A	ENST00000260599.6	+	5	976	c.463G>A	c.(463-465)Gca>Aca	p.A155T	KHK_ENST00000490823.1_3'UTR|KHK_ENST00000260598.5_Missense_Mutation_p.A155T	NM_000221.2	NP_000212.1	P50053	KHK_HUMAN	ketohexokinase (fructokinase)	155					carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|fructose catabolic process (GO:0006001)|regulation of glycogen metabolic process (GO:0070873)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ketohexokinase activity (GO:0004454)			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCGGATAGACGCACACAACAC	0.622																																						ENST00000260599.6																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	16						c.(463-465)Gca>Aca		ketohexokinase (fructokinase)							79	68	72					2																	27320416		2203	4300	6503	SO:0001583	missense	3795				fructose catabolic process	cytosol	ATP binding|ketohexokinase activity|protein binding	g.chr2:27320416G>A		CCDS1734.1, CCDS1735.1	2p23.3-p23.2	2008-02-05			ENSG00000138030	ENSG00000138030	2.7.1.3		6315	protein-coding gene	gene with protein product		614058				7833921	Standard	NM_000221		Approved		uc002rim.2	P50053	OTTHUMG00000097077	ENST00000260599.6:c.463G>A	2.37:g.27320416G>A	ENSP00000260599:p.Ala155Thr					KHK_ENST00000260598.5_Missense_Mutation_p.A155T|KHK_ENST00000490823.1_3'UTR	p.A155T	NM_000221.2	NP_000212.1	P50053	KHK_HUMAN			5	976	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		155					Q6IBK2|Q99532|Q9BRJ3|Q9UMN1	Missense_Mutation	SNP	ENST00000260599.6	37	c.463G>A	CCDS1734.1	.	.	.	.	.	.	.	.	.	.	G	6.171	0.399811	0.11696	.	.	ENSG00000138030	ENST00000260599;ENST00000260598;ENST00000429697	T;T;T	0.76578	-1.03;-1.03;-0.06	5.93	-3.83	0.04269	Carbohydrate/purine kinase (1);	0.968623	0.08565	N	0.926945	T	0.60586	0.2280	N	0.20483	0.58	0.09310	N	1	B;B;B;B	0.16166	0.001;0.001;0.016;0.001	B;B;B;B	0.09377	0.001;0.001;0.004;0.001	T	0.43360	-0.9396	10	0.14656	T	0.56	-15.893	14.2547	0.66043	0.2583:0.1835:0.5582:0.0	.	155;155;155;155	Q53G56;Q6IBK2;P50053-2;P50053	.;.;.;KHK_HUMAN	T	155;155;200	ENSP00000260599:A155T;ENSP00000260598:A155T;ENSP00000404741:A200T	ENSP00000260598:A155T	A	+	1	0	KHK	27173920	0.000000	0.05858	0.001000	0.08648	0.025000	0.11179	-0.110000	0.10824	-0.732000	0.04856	-1.982000	0.00454	GCA		0.622	KHK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214196.1			15	16	0	0	0	1	0	15	16					A	27320416	G	A	27320416	3	1	435	1	0	0	0	0	1	0	0	0	8149	1087	38	1	620	1	KHK	2	27320416	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	5183	27320416	215878957	1024	21949											
ABHD1	84696	broad.mit.edu	37	chr2	27353417	27353417	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctagcccttcccatacaggcCgcccaacactccccctacgt	8	7	5	21	2	0	0	0	0	0	0	2	0	2	0	6	1	4	0	6	1	4	4	rs112184308		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:27353417C>T	ENST00000316470.4	+	9	1137	c.1023C>T	c.(1021-1023)gcC>gcT	p.A341A	PREB_ENST00000416802.1_5'Flank	NM_032604.3	NP_115993	Q96SE0	ABHD1_HUMAN	abhydrolase domain containing 1	341						integral component of membrane (GO:0016021)	carboxylic ester hydrolase activity (GO:0052689)			endometrium(1)|kidney(1)|lung(3)	5	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCATACAGGCCGCCCAACACT	0.617																																						ENST00000316470.4																			0				endometrium(1)|kidney(1)|lung(3)	5						c.(1021-1023)gcC>gcT		abhydrolase domain containing 1							87	93	91					2																	27353417		2203	4300	6503	SO:0001819	synonymous_variant	84696					integral to membrane	carboxylesterase activity	g.chr2:27353417C>T	AK093447	CCDS1736.1	2p23.3	2011-01-21			ENSG00000143994	ENSG00000143994		"Abhydrolase domain containing"	17553	protein-coding gene	gene with protein product		612195				11922611	Standard	NM_032604		Approved	LABH1, FLJ36128	uc002rit.3	Q96SE0	OTTHUMG00000097072	ENST00000316470.4:c.1023C>T	2.37:g.27353417C>T							p.A341A	NM_032604.3	NP_115993.3	Q96SE0	ABHD1_HUMAN			9	1137	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		341					B3KSF6|E9PDR9|Q05BY3|Q53SZ1|Q8IXQ7	Silent	SNP	ENST00000316470.4	37	c.1023C>T	CCDS1736.1																																																																																				0.617	ABHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214188.1	NM_032604		22	63	0	0	0	1	0	22	63					T	27353417	C	T	27353417	2	4	435	1	0	0	0	0	0	0	0	1	73	639	23	2		2	ABHD1	2	27353417	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	33001	27353417	215845956	1025	21950											
C2orf53	339779	broad.mit.edu	37	chr2	27360614	27360614	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatccttctcgcttggcacgCatctctccaccactccaggg	6	10	8	17	2	2	0	0	0	2	0	7	1	5	0	4	2	0	3	4	2	0	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:27360614C>T	ENST00000335524.3	-	3	1109	c.584G>A	c.(583-585)tGc>tAc	p.C195Y		NM_178553.3	NP_848648.2	Q53SZ7	PRR30_HUMAN		195										cervix(1)|endometrium(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	20	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCTTGGCACGCATCTCTCCAC	0.657																																						ENST00000335524.3																			0				cervix(1)|endometrium(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	20						c.(583-585)tGc>tAc		chromosome 2 open reading frame 53							42	44	44					2																	27360614		2203	4300	6503	SO:0001583	missense	339779							g.chr2:27360614C>T																												ENST00000335524.3:c.584G>A	2.37:g.27360614C>T	ENSP00000335017:p.Cys195Tyr						p.C195Y	NM_178553.3	NP_848648.2	Q53SZ7	CB053_HUMAN			3	1109	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		195					Q86UE2	Missense_Mutation	SNP	ENST00000335524.3	37	c.584G>A	CCDS1739.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.42|12.42	1.931418|1.931418	0.34096|0.34096	.|.	.|.	ENSG00000186143|ENSG00000186143	ENST00000335524|ENST00000432962	T|.	0.58652|.	0.32|.	4.67|4.67	4.67|4.67	0.58626|0.58626	.|.	0.000000|.	0.41396|.	D|.	0.000898|.	T|T	0.47358|0.47358	0.1441|0.1441	L|L	0.32530|0.32530	0.975|0.975	0.30199|0.30199	N|N	0.798751|0.798751	D|.	0.89917|.	1.0|.	D|.	0.91635|.	0.999|.	T|T	0.52909|0.52909	-0.8512|-0.8512	10|6	0.87932|0.87932	D|D	0|0	-14.8151|-14.8151	12.9224|12.9224	0.58241|0.58241	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	195|.	Q53SZ7|.	CB053_HUMAN|.	Y|I	195|30	ENSP00000335017:C195Y|.	ENSP00000335017:C195Y|ENSP00000393468:M30I	C|M	-|-	2|3	0|0	C2orf53|C2orf53	27214118|27214118	0.240000|0.240000	0.23847|0.23847	0.487000|0.487000	0.27428|0.27428	0.012000|0.012000	0.07955|0.07955	3.506000|3.506000	0.53364|0.53364	2.401000|2.401000	0.81631|0.81631	0.561000|0.561000	0.74099|0.74099	TGC|ATG		0.657	C2orf53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250188.1			12	22	0	0	0	1	0	12	22					T	27360614	C	T	27360614	3	4	435	1	0	0	0	0	1	0	0	0	2174	710	25	3	658	3	C2orf53	2	27360614	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	7197	27360614	215838759	1026	21951											
C2orf53	339779	broad.mit.edu	37	chr2	27360640	27360640	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tccaccactccaggggacccGgacccagtgtccctgtactg	7	7	10	17	1	0	0	0	0	0	0	3	2	3	2	6	3	1	1	6	3	1	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:27360640G>A	ENST00000335524.3	-	3	1083	c.558C>T	c.(556-558)tcC>tcT	p.S186S		NM_178553.3	NP_848648.2	Q53SZ7	PRR30_HUMAN		186										cervix(1)|endometrium(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	20	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CAGGGGACCCGGACCCAGTGT	0.637																																						ENST00000335524.3																			0				cervix(1)|endometrium(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	20						c.(556-558)tcC>tcT		chromosome 2 open reading frame 53							47	50	49					2																	27360640		2203	4300	6503	SO:0001819	synonymous_variant	339779							g.chr2:27360640G>A																												ENST00000335524.3:c.558C>T	2.37:g.27360640G>A							p.S186S	NM_178553.3	NP_848648.2	Q53SZ7	CB053_HUMAN			3	1083	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		186					Q86UE2	Silent	SNP	ENST00000335524.3	37	c.558C>T	CCDS1739.1	.	.	.	.	.	.	.	.	.	.	G	9.196	1.027184	0.19512	.	.	ENSG00000186143	ENST00000432962	.	.	.	4.67	2.77	0.32553	.	.	.	.	.	T	0.41650	0.1168	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.32981	-0.9886	5	0.87932	D	0	.	6.9897	0.24748	0.0:0.1911:0.6112:0.1977	.	.	.	.	W	22	.	ENSP00000393468:R22W	R	-	1	2	C2orf53	27214144	0.014000	0.17966	0.010000	0.14722	0.019000	0.09904	2.038000	0.41184	2.401000	0.81631	0.561000	0.74099	CGG		0.637	C2orf53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250188.1			22	22	0	0	0	1	0	22	22					A	27360640	G	A	27360640	2	1	435	1	0	0	0	0	0	0	0	1	2174	1103	39	2		2	C2orf53	2	27360640	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	26	27360640	215838733	1027	21952											
TCF23	150921	broad.mit.edu	37	chr2	27372993	27372993	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctggggccctctgtgcagagCgaggccagtcctgagaatgc	7	7	15	12	1	1	2	0	1	1	2	2	4	2	2	3	3	3	1	3	3	1	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:27372993C>T	ENST00000296096.5	+	2	355	c.225C>T	c.(223-225)agC>agT	p.S75S		NM_175769.2	NP_786951.1	Q7RTU1	TCF23_HUMAN	transcription factor 23	75					cell differentiation (GO:0030154)|muscle organ development (GO:0007517)	nucleus (GO:0005634)				large_intestine(2)|lung(11)|prostate(1)	14	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTGTGCAGAGCGAGGCCAGTC	0.657																																						ENST00000296096.5																			0				large_intestine(2)|lung(11)|prostate(1)	14						c.(223-225)agC>agT		transcription factor 23							41	46	44					2																	27372993		2202	4300	6502	SO:0001819	synonymous_variant	150921				cell differentiation|muscle organ development|regulation of transcription, DNA-dependent	nucleus		g.chr2:27372993C>T	AC013403	CCDS33163.1	2p23.3	2013-05-21			ENSG00000163792	ENSG00000163792		"Basic helix-loop-helix proteins"	18602	protein-coding gene	gene with protein product		609635				11701948, 10652346	Standard	NM_175769		Approved	OUT, bHLHa24	uc010ylg.2	Q7RTU1	OTTHUMG00000152031	ENST00000296096.5:c.225C>T	2.37:g.27372993C>T							p.S75S	NM_175769.2	NP_786951.1	Q7RTU1	TCF23_HUMAN			2	355	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		75					B2RNZ3	Silent	SNP	ENST00000296096.5	37	c.225C>T	CCDS33163.1																																																																																				0.657	TCF23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324980.1	NM_175769		11	11	0	0	0	1	0	11	11					T	27372993	C	T	27372993	2	4	435	1	0	0	0	0	0	0	0	1	15689	767	27	1		1	TCF23	2	27372993	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	12353	27372993	215826380	1028	21953											
CAD	790	broad.mit.edu	37	chr2	27447233	27447233	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttagagagcggctgactgagCgcctctgtccccctgggatt	6	10	13	12	2	1	3	0	2	1	1	2	5	2	4	3	2	2	1	3	2	1	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:27447233C>T	ENST00000403525.1	+	9	1273	c.1129C>T	c.(1129-1131)Cgc>Tgc	p.R377C	CAD_ENST00000264705.4_Missense_Mutation_p.R377C			O76075	DFFB_HUMAN	carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase	0					apoptotic chromosome condensation (GO:0030263)|apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|brain development (GO:0007420)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)	cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	deoxyribonuclease activity (GO:0004536)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)			NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCTGACTGAGCGCCTCTGTCC	0.577																																						ENST00000264705.4																			0				NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92						c.(1129-1131)Cgc>Tgc		carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase	L-Aspartic Acid(DB00128)|L-Glutamine(DB00130)						54	54	54					2																	27447233		2203	4300	6503	SO:0001583	missense	790				'de novo' pyrimidine base biosynthetic process|drug metabolic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process	cytosol|neuronal cell body|nuclear matrix|terminal button	aspartate binding|aspartate carbamoyltransferase activity|ATP binding|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|identical protein binding|metal ion binding|protein kinase activity	g.chr2:27447233C>T	D78586	CCDS1742.1	2p22-p21	2012-10-02			ENSG00000084774	ENSG00000084774	2.1.3.2, 3.5.2.-		1424	protein-coding gene	gene with protein product		114010				8619816, 2565865	Standard	NM_004341		Approved		uc002rji.3	P27708	OTTHUMG00000097070	ENST00000403525.1:c.1129C>T	2.37:g.27447233C>T	ENSP00000384510:p.Arg377Cys					CAD_ENST00000403525.1_Missense_Mutation_p.R377C	p.R377C	NM_004341.3	NP_004332.2	P27708	PYR1_HUMAN			9	1291	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		377			Linker.		O60521|Q5SR22|Q9BYI4|Q9BYI5|Q9BYI6	Missense_Mutation	SNP	ENST00000403525.1	37	c.1129C>T		.	.	.	.	.	.	.	.	.	.	C	15.03	2.713611	0.48517	.	.	ENSG00000084774	ENST00000264705;ENST00000403525	D;D	0.98362	-4.89;-4.83	5.2	2.42	0.29668	Pre-ATP-grasp fold (1);	0.236200	0.43747	N	0.000533	D	0.95085	0.8408	N	0.08118	0	0.40728	D	0.982722	D;D	0.67145	0.987;0.996	P;B	0.55667	0.781;0.332	D	0.92277	0.5830	10	0.52906	T	0.07	8.3832	5.5483	0.17076	0.141:0.6313:0.0:0.2277	.	377;377	F8VPD4;P27708	.;PYR1_HUMAN	C	377	ENSP00000264705:R377C;ENSP00000384510:R377C	ENSP00000264705:R377C	R	+	1	0	CAD	27300737	1.000000	0.71417	0.956000	0.39512	0.880000	0.50808	1.214000	0.32419	0.211000	0.20683	0.491000	0.48974	CGC		0.577	CAD-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000324970.1			8	33	0	0	0	1	0	8	33					T	27447233	C	T	27447233	3	4	435	1	0	0	0	0	1	0	0	0	2565	768	27	1	1163	1	CAD	2	27447233	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	74240	27447233	215752140	1029	21954											
CAD	790	broad.mit.edu	37	chr2	27447925	27447925	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gtgttactgacttttgggggCcagactgctctgaactgtgg	6	13	14	8	0	1	3	0	2	1	1	1	3	1	3	1	3	3	2	1	3	2	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:27447925C>T	ENST00000403525.1	+	11	1578	c.1434C>T	c.(1432-1434)ggC>ggT	p.G478G	CAD_ENST00000264705.4_Silent_p.G478G			O76075	DFFB_HUMAN	carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase	0					apoptotic chromosome condensation (GO:0030263)|apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|brain development (GO:0007420)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)	cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	deoxyribonuclease activity (GO:0004536)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)			NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTTTTGGGGGCCAGACTGCTC	0.582																																						ENST00000264705.4																			0				NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92						c.(1432-1434)ggC>ggT		carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase	L-Aspartic Acid(DB00128)|L-Glutamine(DB00130)						90	82	85					2																	27447925		2203	4300	6503	SO:0001819	synonymous_variant	790				'de novo' pyrimidine base biosynthetic process|drug metabolic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process	cytosol|neuronal cell body|nuclear matrix|terminal button	aspartate binding|aspartate carbamoyltransferase activity|ATP binding|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|identical protein binding|metal ion binding|protein kinase activity	g.chr2:27447925C>T	D78586	CCDS1742.1	2p22-p21	2012-10-02			ENSG00000084774	ENSG00000084774	2.1.3.2, 3.5.2.-		1424	protein-coding gene	gene with protein product		114010				8619816, 2565865	Standard	NM_004341		Approved		uc002rji.3	P27708	OTTHUMG00000097070	ENST00000403525.1:c.1434C>T	2.37:g.27447925C>T						CAD_ENST00000403525.1_Silent_p.G478G	p.G478G	NM_004341.3	NP_004332.2	P27708	PYR1_HUMAN			11	1596	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		478			CPSase (Carbamoyl-phosphate synthase).|CPSase A.		O60521|Q5SR22|Q9BYI4|Q9BYI5|Q9BYI6	Silent	SNP	ENST00000403525.1	37	c.1434C>T																																																																																					0.582	CAD-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000324970.1			14	16	0	0	0	1	0	14	16					T	27447925	C	T	27447925	2	4	435	1	0	0	0	0	0	0	0	1	2565	726	26	3		3	CAD	2	27447925	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	692	27447925	215751448	1030	21955											
CAD	790	broad.mit.edu	37	chr2	27447963	27447963	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tggtgtggagctgaccaaggCcggggtgctggctcggtatg	5	9	19	8	2	0	1	0	1	0	0	1	2	0	2	2	7	2	4	2	7	2	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:27447963C>T	ENST00000403525.1	+	11	1616	c.1472C>T	c.(1471-1473)gCc>gTc	p.A491V	CAD_ENST00000264705.4_Missense_Mutation_p.A491V			O76075	DFFB_HUMAN	carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase	0					apoptotic chromosome condensation (GO:0030263)|apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|brain development (GO:0007420)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)	cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	deoxyribonuclease activity (GO:0004536)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)			NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTGACCAAGGCCGGGGTGCTG	0.602																																						ENST00000264705.4																			0				NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92						c.(1471-1473)gCc>gTc		carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase	L-Aspartic Acid(DB00128)|L-Glutamine(DB00130)						74	70	71					2																	27447963		2203	4300	6503	SO:0001583	missense	790				'de novo' pyrimidine base biosynthetic process|drug metabolic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process	cytosol|neuronal cell body|nuclear matrix|terminal button	aspartate binding|aspartate carbamoyltransferase activity|ATP binding|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|identical protein binding|metal ion binding|protein kinase activity	g.chr2:27447963C>T	D78586	CCDS1742.1	2p22-p21	2012-10-02			ENSG00000084774	ENSG00000084774	2.1.3.2, 3.5.2.-		1424	protein-coding gene	gene with protein product		114010				8619816, 2565865	Standard	NM_004341		Approved		uc002rji.3	P27708	OTTHUMG00000097070	ENST00000403525.1:c.1472C>T	2.37:g.27447963C>T	ENSP00000384510:p.Ala491Val					CAD_ENST00000403525.1_Missense_Mutation_p.A491V	p.A491V	NM_004341.3	NP_004332.2	P27708	PYR1_HUMAN			11	1634	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		491			CPSase (Carbamoyl-phosphate synthase).|CPSase A.		O60521|Q5SR22|Q9BYI4|Q9BYI5|Q9BYI6	Missense_Mutation	SNP	ENST00000403525.1	37	c.1472C>T		.	.	.	.	.	.	.	.	.	.	C	14.73	2.622144	0.46840	.	.	ENSG00000084774	ENST00000264705;ENST00000403525	D;D	0.97791	-4.54;-4.54	5.54	3.59	0.41128	Pre-ATP-grasp fold (1);PreATP-grasp-like fold (1);Carbamoyl-phosphate synthase, large subunit, N-terminal (1);	0.505572	0.22913	N	0.054116	D	0.97025	0.9028	M	0.88704	2.975	0.22827	N	0.998682	B;B	0.17667	0.022;0.023	B;B	0.23150	0.044;0.009	D	0.93566	0.6899	10	0.51188	T	0.08	-7.6786	9.4459	0.38697	0.144:0.4521:0.4039:0.0	.	491;491	F8VPD4;P27708	.;PYR1_HUMAN	V	491	ENSP00000264705:A491V;ENSP00000384510:A491V	ENSP00000264705:A491V	A	+	2	0	CAD	27301467	0.024000	0.19004	0.836000	0.33094	0.964000	0.63967	0.214000	0.17541	1.300000	0.44818	0.462000	0.41574	GCC		0.602	CAD-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000324970.1			12	19	0	0	0	1	0	12	19					T	27447963	C	T	27447963	3	4	435	1	0	0	0	0	1	0	0	0	2565	739	26	3	1514	3	CAD	2	27447963	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	38	27447963	215751410	1031	21956											
CAD	790	broad.mit.edu	37	chr2	27454973	27454973	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttcctgcaccgaatgaagcgTatcatcgcacatgcccagct	10	9	8	14	3	1	1	1	1	0	0	3	2	2	1	3	0	4	4	3	0	3	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:27454973T>C	ENST00000403525.1	+	16	2481	c.2337T>C	c.(2335-2337)cgT>cgC	p.R779R	CAD_ENST00000264705.4_Silent_p.R842R|CAD_ENST00000464159.1_3'UTR			O76075	DFFB_HUMAN	carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase	0					apoptotic chromosome condensation (GO:0030263)|apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|brain development (GO:0007420)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)	cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	deoxyribonuclease activity (GO:0004536)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)			NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GAATGAAGCGTATCATCGCAC	0.552																																						ENST00000264705.4																			0				NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92						c.(2524-2526)cgT>cgC		carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase	L-Aspartic Acid(DB00128)|L-Glutamine(DB00130)						119	102	108					2																	27454973		2203	4300	6503	SO:0001819	synonymous_variant	790				'de novo' pyrimidine base biosynthetic process|drug metabolic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process	cytosol|neuronal cell body|nuclear matrix|terminal button	aspartate binding|aspartate carbamoyltransferase activity|ATP binding|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|identical protein binding|metal ion binding|protein kinase activity	g.chr2:27454973T>C	D78586	CCDS1742.1	2p22-p21	2012-10-02			ENSG00000084774	ENSG00000084774	2.1.3.2, 3.5.2.-		1424	protein-coding gene	gene with protein product		114010				8619816, 2565865	Standard	NM_004341		Approved		uc002rji.3	P27708	OTTHUMG00000097070	ENST00000403525.1:c.2337T>C	2.37:g.27454973T>C						CAD_ENST00000464159.1_3'UTR|CAD_ENST00000403525.1_Silent_p.R779R	p.R842R	NM_004341.3	NP_004332.2	P27708	PYR1_HUMAN			17	2688	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		842			CPSase (Carbamoyl-phosphate synthase).|CPSase A.		O60521|Q5SR22|Q9BYI4|Q9BYI5|Q9BYI6	Silent	SNP	ENST00000403525.1	37	c.2526T>C																																																																																					0.552	CAD-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000324970.1			12	60	0	0	0	1	0	12	60					C	27454973	T	C	27454973	2	2	435	1	0	0	0	0	0	0	0	1	2565	1625	57	4		4	CAD	2	27454973	Silent	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	7010	27454973	215744400	1032	21957											
CAD	790	broad.mit.edu	37	chr2	27456982	27456982	+	Frame_Shift_Del	DEL	C	C	-																															aggtgatgcgacgctggtgaCccccccacaagatatcactg																										TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:27456982delC	ENST00000403525.1	+	21	3461	c.3317delC	c.(3316-3318)accfs	p.T1106fs	CAD_ENST00000264705.4_Frame_Shift_Del_p.T1169fs			O76075	DFFB_HUMAN	carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase	0					apoptotic chromosome condensation (GO:0030263)|apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|brain development (GO:0007420)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)	cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	deoxyribonuclease activity (GO:0004536)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)			NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ACGCTGGTGACCCCCCCACAA	0.577																																						ENST00000264705.4																			0				NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92						c.(3505-3507)acfs		carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase	L-Aspartic Acid(DB00128)|L-Glutamine(DB00130)						91	74	79					2																	27456982		2203	4300	6503	SO:0001589	frameshift_variant	790				'de novo' pyrimidine base biosynthetic process|drug metabolic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process	cytosol|neuronal cell body|nuclear matrix|terminal button	aspartate binding|aspartate carbamoyltransferase activity|ATP binding|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|identical protein binding|metal ion binding|protein kinase activity	g.chr2:27456982delC	D78586	CCDS1742.1	2p22-p21	2012-10-02			ENSG00000084774	ENSG00000084774	2.1.3.2, 3.5.2.-		1424	protein-coding gene	gene with protein product		114010				8619816, 2565865	Standard	NM_004341		Approved		uc002rji.3	P27708	OTTHUMG00000097070	ENST00000403525.1:c.3317delC	2.37:g.27456982delC	ENSP00000384510:p.Thr1106fs					CAD_ENST00000403525.1_Frame_Shift_Del_p.T1106fs	p.T1169fs	NM_004341.3	NP_004332.2	P27708	PYR1_HUMAN			22	3668	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		1169			ATP-grasp 2.|CPSase (Carbamoyl-phosphate synthase).|CPSase B.		O60521|Q5SR22|Q9BYI4|Q9BYI5|Q9BYI6	Frame_Shift_Del	DEL	ENST00000403525.1	37	c.3506delC																																																																																					0.577	CAD-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000324970.1			23	27						23	27	---	---	---	---	-	27456982	C	-	27456982	7	5	435	1	0	1	0	1	0	0	0	0	2565	507	18	0	3592	0	CAD	2	27456982	Frame_Shift_Del	DEL	C	TCGA-XK-AAIW-01A-11D-A41K-08	2009	27456982	215742391	1033	21958											
CAD	790	broad.mit.edu	37	chr2	27460381	27460381	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctaatacccggccccccatcAttgacgcccctgctctggcc	6	8	7	20	2	2	1	1	1	1	0	2	1	2	1	7	2	2	1	7	2	2	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:27460381A>G	ENST00000403525.1	+	27	4486	c.4342A>G	c.(4342-4344)Att>Gtt	p.I1448V	CAD_ENST00000264705.4_Missense_Mutation_p.I1511V			O76075	DFFB_HUMAN	carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase	0					apoptotic chromosome condensation (GO:0030263)|apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|brain development (GO:0007420)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)	cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	deoxyribonuclease activity (GO:0004536)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)			NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCCCCCCATCATTGACGCCCC	0.607																																						ENST00000264705.4																			0				NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92						c.(4531-4533)Att>Gtt		carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase	L-Aspartic Acid(DB00128)|L-Glutamine(DB00130)						54	52	53					2																	27460381		2203	4300	6503	SO:0001583	missense	790				'de novo' pyrimidine base biosynthetic process|drug metabolic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process	cytosol|neuronal cell body|nuclear matrix|terminal button	aspartate binding|aspartate carbamoyltransferase activity|ATP binding|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|identical protein binding|metal ion binding|protein kinase activity	g.chr2:27460381A>G	D78586	CCDS1742.1	2p22-p21	2012-10-02			ENSG00000084774	ENSG00000084774	2.1.3.2, 3.5.2.-		1424	protein-coding gene	gene with protein product		114010				8619816, 2565865	Standard	NM_004341		Approved		uc002rji.3	P27708	OTTHUMG00000097070	ENST00000403525.1:c.4342A>G	2.37:g.27460381A>G	ENSP00000384510:p.Ile1448Val					CAD_ENST00000403525.1_Missense_Mutation_p.I1448V	p.I1511V	NM_004341.3	NP_004332.2	P27708	PYR1_HUMAN			28	4693	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		1511			DHOase (dihydroorotase).		O60521|Q5SR22|Q9BYI4|Q9BYI5|Q9BYI6	Missense_Mutation	SNP	ENST00000403525.1	37	c.4531A>G		.	.	.	.	.	.	.	.	.	.	A	2.373	-0.343813	0.05208	.	.	ENSG00000084774	ENST00000264705;ENST00000403525	T;T	0.40225	1.04;1.04	4.38	2.01	0.26516	Amidohydrolase 1 (1);	0.494615	0.23265	N	0.050081	T	0.12732	0.0309	N	0.00926	-1.1	0.33691	D	0.613363	B;B	0.14012	0.003;0.009	B;B	0.10450	0.005;0.004	T	0.19549	-1.0302	10	0.12766	T	0.61	-7.317	7.6595	0.28394	0.8213:0.0:0.1787:0.0	.	1448;1511	F8VPD4;P27708	.;PYR1_HUMAN	V	1511;1448	ENSP00000264705:I1511V;ENSP00000384510:I1448V	ENSP00000264705:I1511V	I	+	1	0	CAD	27313885	0.777000	0.28628	0.075000	0.20258	0.918000	0.54935	1.710000	0.37920	0.245000	0.21373	0.459000	0.35465	ATT		0.607	CAD-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000324970.1			12	17	0	0	0	1	0	12	17					G	27460381	A	G	27460381	3	3	435	1	0	0	0	0	1	0	0	0	2565	217	8	4	4641	4	CAD	2	27460381	Missense_Mutation	SNP	A	TCGA-XK-AAIW-01A-11D-A41K-08	3399	27460381	215738992	1034	21959											
CAD	790	broad.mit.edu	37	chr2	27461327	27461327	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aattaaagctgcaaaggcacGgggcttgccagtgacctgcg	11	7	13	10	2	0	1	0	1	0	0	0	1	0	1	2	3	4	4	2	3	4	2	rs375486999		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:27461327G>A	ENST00000403525.1	+	30	4844	c.4700G>A	c.(4699-4701)cGg>cAg	p.R1567Q	CAD_ENST00000264705.4_Missense_Mutation_p.R1630Q			O76075	DFFB_HUMAN	carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase	0					apoptotic chromosome condensation (GO:0030263)|apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|brain development (GO:0007420)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)	cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	deoxyribonuclease activity (GO:0004536)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)			NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCAAAGGCACGGGGCTTGCCA	0.597																																						ENST00000264705.4																			0				NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92						c.(4888-4890)cGg>cAg		carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase	L-Aspartic Acid(DB00128)|L-Glutamine(DB00130)	G	GLN/ARG	0,4406		0,0,2203	79	81	81		4889	0.8	0	2		81	1,8599	1.2+/-3.3	0,1,4299	no	missense	CAD	NM_004341.3	43	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	1630/2226	27461327	1,13005	2203	4300	6503	SO:0001583	missense	790				'de novo' pyrimidine base biosynthetic process|drug metabolic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process	cytosol|neuronal cell body|nuclear matrix|terminal button	aspartate binding|aspartate carbamoyltransferase activity|ATP binding|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|identical protein binding|metal ion binding|protein kinase activity	g.chr2:27461327G>A	D78586	CCDS1742.1	2p22-p21	2012-10-02			ENSG00000084774	ENSG00000084774	2.1.3.2, 3.5.2.-		1424	protein-coding gene	gene with protein product		114010				8619816, 2565865	Standard	NM_004341		Approved		uc002rji.3	P27708	OTTHUMG00000097070	ENST00000403525.1:c.4700G>A	2.37:g.27461327G>A	ENSP00000384510:p.Arg1567Gln					CAD_ENST00000403525.1_Missense_Mutation_p.R1567Q	p.R1630Q	NM_004341.3	NP_004332.2	P27708	PYR1_HUMAN			31	5051	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		1630			DHOase (dihydroorotase).		O60521|Q5SR22|Q9BYI4|Q9BYI5|Q9BYI6	Missense_Mutation	SNP	ENST00000403525.1	37	c.4889G>A		.	.	.	.	.	.	.	.	.	.	G	8.971	0.972861	0.18736	0.0	1.16E-4	ENSG00000084774	ENST00000264705;ENST00000403525	T;T	0.46063	0.88;0.88	4.94	0.787	0.18596	.	0.239901	0.39834	N	0.001245	T	0.29817	0.0745	L	0.38175	1.15	0.09310	N	1	B;B	0.11235	0.004;0.001	B;B	0.17979	0.02;0.003	T	0.18681	-1.0329	10	0.42905	T	0.14	1.8145	8.9523	0.35796	0.6549:0.0:0.3451:0.0	.	1567;1630	F8VPD4;P27708	.;PYR1_HUMAN	Q	1630;1567	ENSP00000264705:R1630Q;ENSP00000384510:R1567Q	ENSP00000264705:R1630Q	R	+	2	0	CAD	27314831	0.995000	0.38212	0.047000	0.18901	0.314000	0.28054	0.631000	0.24568	-0.165000	0.10908	-0.258000	0.10820	CGG		0.597	CAD-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000324970.1			25	38	0	0	0	1	0	25	38					A	27461327	G	A	27461327	3	1	435	1	0	0	0	0	1	0	0	0	2565	1116	39	2	5011	2	CAD	2	27461327	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	946	27461327	215738046	1035	21960											
CAD	790	broad.mit.edu	37	chr2	27465566	27465566	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcacccagtatcgtgtcagcCtgcgctacgtggcacctccc	6	9	9	17	3	2	0	2	0	0	0	4	0	3	0	4	1	3	3	4	1	2	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:27465566C>A	ENST00000403525.1	+	40	6256	c.6112C>A	c.(6112-6114)Ctg>Atg	p.L2038M	CAD_ENST00000264705.4_Missense_Mutation_p.L2101M			O76075	DFFB_HUMAN	carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase	0					apoptotic chromosome condensation (GO:0030263)|apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|brain development (GO:0007420)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)	cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	deoxyribonuclease activity (GO:0004536)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)			NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TCGTGTCAGCCTGCGCTACGT	0.642																																						ENST00000264705.4																			0				NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92						c.(6301-6303)Ctg>Atg		carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase	L-Aspartic Acid(DB00128)|L-Glutamine(DB00130)						89	80	84					2																	27465566		2203	4300	6503	SO:0001583	missense	790				'de novo' pyrimidine base biosynthetic process|drug metabolic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process	cytosol|neuronal cell body|nuclear matrix|terminal button	aspartate binding|aspartate carbamoyltransferase activity|ATP binding|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|identical protein binding|metal ion binding|protein kinase activity	g.chr2:27465566C>A	D78586	CCDS1742.1	2p22-p21	2012-10-02			ENSG00000084774	ENSG00000084774	2.1.3.2, 3.5.2.-		1424	protein-coding gene	gene with protein product		114010				8619816, 2565865	Standard	NM_004341		Approved		uc002rji.3	P27708	OTTHUMG00000097070	ENST00000403525.1:c.6112C>A	2.37:g.27465566C>A	ENSP00000384510:p.Leu2038Met					CAD_ENST00000403525.1_Missense_Mutation_p.L2038M	p.L2101M	NM_004341.3	NP_004332.2	P27708	PYR1_HUMAN			41	6463	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		2101			ATCase (Aspartate transcarbamylase).		O60521|Q5SR22|Q9BYI4|Q9BYI5|Q9BYI6	Missense_Mutation	SNP	ENST00000403525.1	37	c.6301C>A		.	.	.	.	.	.	.	.	.	.	C	19.78	3.891216	0.72524	.	.	ENSG00000084774	ENST00000264705;ENST00000403525	D;D	0.99098	-5.42;-5.42	5.21	4.31	0.51392	Aspartate/ornithine carbamoyltransferase, Asp/Orn-binding domain (1);	0.077187	0.53938	N	0.000055	D	0.98566	0.9521	L	0.50919	1.6	0.58432	D	0.999999	D;B	0.67145	0.996;0.122	D;B	0.69824	0.966;0.083	D	0.98619	1.0666	10	0.87932	D	0	-28.9754	7.5062	0.27547	0.1669:0.7488:0.0:0.0843	.	2038;2101	F8VPD4;P27708	.;PYR1_HUMAN	M	2101;2038	ENSP00000264705:L2101M;ENSP00000384510:L2038M	ENSP00000264705:L2101M	L	+	1	2	CAD	27319070	1.000000	0.71417	1.000000	0.80357	0.918000	0.54935	3.606000	0.54095	1.149000	0.42402	0.462000	0.41574	CTG		0.642	CAD-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000324970.1			25	39	1	0	9.04412e-07	1	9.43082e-07	25	39					A	27465566	C	A	27465566	3	1	435	1	0	0	0	0	1	0	0	0	2565	680	24	5	6463	5	CAD	2	27465566	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	4239	27465566	215733807	1036	21961											
SLC30A3	7781	broad.mit.edu	37	chr2	27481120	27481120	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cccatcatgctgcccacatcCgccagcaagtgggctgcatc	8	7	9	17	1	1	0	1	0	0	0	3	0	2	0	4	1	4	4	4	1	1	0	rs372422099		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:27481120C>T	ENST00000233535.4	-	3	685	c.333G>A	c.(331-333)gcG>gcA	p.A111A	SLC30A3_ENST00000447008.2_Silent_p.A106A	NM_003459.4	NP_003450.2	Q99726	ZNT3_HUMAN	solute carrier family 30 (zinc transporter), member 3	111					positive regulation of transport (GO:0051050)|regulation of sequestering of zinc ion (GO:0061088)|transmembrane transport (GO:0055085)|transport (GO:0006810)|zinc ion transmembrane transport (GO:0071577)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|membrane (GO:0016020)|neuron projection (GO:0043005)|synaptic vesicle (GO:0008021)|synaptic vesicle membrane (GO:0030672)	zinc transporting ATPase activity (GO:0015633)			NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(11)|pancreas(1)	20	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGCCCACATCCGCCAGCAAGT	0.592																																						ENST00000233535.4																			0				NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(11)|pancreas(1)	20						c.(331-333)gcG>gcA		solute carrier family 30 (zinc transporter), member 3		C		1,4405	2.1+/-5.4	0,1,2202	47	48	47		333	-11	0.1	2		47	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	SLC30A3	NM_003459.4		0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154		111/389	27481120	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	7781				regulation of sequestering of zinc ion	cell junction|integral to plasma membrane|late endosome|membrane fraction|synaptic vesicle membrane	zinc transporting ATPase activity	g.chr2:27481120C>T	U76010	CCDS1743.1	2p23.3	2013-05-22			ENSG00000115194	ENSG00000115194		"Solute carriers"	11014	protein-coding gene	gene with protein product		602878		ZNT3		8962159	Standard	NM_003459		Approved		uc002rjj.3	Q99726	OTTHUMG00000128409	ENST00000233535.4:c.333G>A	2.37:g.27481120C>T						SLC30A3_ENST00000447008.2_Silent_p.A106A	p.A111A	NM_003459.4	NP_003450.2	Q99726	ZNT3_HUMAN			3	685	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		111					Q8TC03	Silent	SNP	ENST00000233535.4	37	c.333G>A	CCDS1743.1	.	.	.	.	.	.	.	.	.	.	C	8.412	0.844316	0.16963	2.27E-4	1.16E-4	ENSG00000115194	ENST00000445870	.	.	.	5.51	-11.0	0.00169	.	.	.	.	.	T	0.43277	0.1240	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.53940	-0.8367	4	.	.	.	-13.4629	7.0504	0.25069	0.0948:0.1903:0.0788:0.6361	.	.	.	.	R	100	.	.	G	-	1	0	SLC30A3	27334624	0.000000	0.05858	0.144000	0.22314	0.925000	0.55904	-9.000000	0.00014	-2.595000	0.00454	-0.993000	0.02533	GGA		0.592	SLC30A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250189.2			9	11	0	0	0	1	0	9	11					T	27481120	C	T	27481120	2	4	435	1	0	0	0	0	0	0	0	1	14556	639	23	2		2	SLC30A3	2	27481120	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	15554	27481120	215718253	1037	21962											
NRBP1	29959	broad.mit.edu	37	chr2	27664668	27664668	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaactcagccgctgtcaccGtctcctcttagagctcactc	7	11	6	17	2	6	1	4	0	2	1	8	1	6	1	3	0	3	2	3	0	2	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:27664668G>A	ENST00000233557.3	+	19	2429	c.1597G>A	c.(1597-1599)Gtc>Atc	p.V533I	KRTCAP3_ENST00000288873.3_5'Flank|KRTCAP3_ENST00000543753.1_5'Flank|NRBP1_ENST00000379852.3_Missense_Mutation_p.V533I|KRTCAP3_ENST00000407293.1_5'Flank|NRBP1_ENST00000379863.3_Missense_Mutation_p.V541I			Q9UHY1	NRBP_HUMAN	nuclear receptor binding protein 1	533					ER to Golgi vesicle-mediated transport (GO:0006888)|gene expression (GO:0010467)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell projection (GO:0042995)|endomembrane system (GO:0012505)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|perinuclear region of cytoplasm (GO:0048471)	ATP binding (GO:0005524)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19	Acute lymphoblastic leukemia(172;0.155)					CGCTGTCACCGTCTCCTCTTA	0.587																																						ENST00000233557.3																			0				central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19						c.(1597-1599)Gtc>Atc		nuclear receptor binding protein 1							103	105	105					2																	27664668		2203	4300	6503	SO:0001583	missense	29959				ER to Golgi vesicle-mediated transport|gene expression|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cell cortex|endomembrane system|lamellipodium|membrane|nucleoplasm	ATP binding|protein homodimerization activity|protein kinase activity	g.chr2:27664668G>A	AF113249	CCDS1753.1	2p23	2008-02-05	2005-12-22	2005-12-22	ENSG00000115216	ENSG00000115216			7993	protein-coding gene	gene with protein product		606010	"nuclear receptor binding protein"	NRBP		10843813, 11956649	Standard	NM_013392		Approved	BCON3, MUDPNP, MADM	uc002rkp.3	Q9UHY1	OTTHUMG00000097789	ENST00000233557.3:c.1597G>A	2.37:g.27664668G>A	ENSP00000233557:p.Val533Ile					NRBP1_ENST00000379863.3_Missense_Mutation_p.V541I|NRBP1_ENST00000379852.3_Missense_Mutation_p.V533I	p.V533I			Q9UHY1	NRBP_HUMAN			19	2429	+	Acute lymphoblastic leukemia(172;0.155)		533					B3KV40|D6W558|Q53FZ5|Q96SU3	Missense_Mutation	SNP	ENST00000233557.3	37	c.1597G>A	CCDS1753.1	.	.	.	.	.	.	.	.	.	.	G	27.5	4.839766	0.91117	.	.	ENSG00000115216	ENST00000233557;ENST00000421823;ENST00000379852;ENST00000379863	T;T;T	0.14766	2.77;2.77;2.48	5.56	5.56	0.83823	.	0.000000	0.85682	D	0.000000	T	0.25644	0.0624	L	0.40543	1.245	0.58432	D	0.999996	P;D;D	0.67145	0.91;0.996;0.992	P;P;P	0.56343	0.796;0.772;0.596	T	0.00292	-1.1842	10	0.72032	D	0.01	-12.8236	18.0752	0.89425	0.0:0.0:1.0:0.0	.	513;541;533	B4DW31;F8W6G1;Q9UHY1	.;.;NRBP_HUMAN	I	533;513;533;541	ENSP00000233557:V533I;ENSP00000369181:V533I;ENSP00000369192:V541I	ENSP00000233557:V533I	V	+	1	0	NRBP1	27518172	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.687000	0.74552	2.615000	0.88500	0.561000	0.74099	GTC		0.587	NRBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215033.1	NM_013392		49	56	0	0	0	1	0	49	56					A	27664668	G	A	27664668	3	1	435	1	0	0	0	0	1	0	0	0	10642	1145	40	1	1663	1	NRBP1	2	27664668	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	183548	27664668	215534705	1038	21963											
IFT172	26160	broad.mit.edu	37	chr2	27670411	27670411	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacactctgggctgcagagcGcgtggcatagtaatgagcga	10	7	15	9	3	1	2	0	1	1	1	1	4	1	2	0	2	3	4	0	2	2	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:27670411G>A	ENST00000260570.3	-	42	4733	c.4630C>T	c.(4630-4632)Cgc>Tgc	p.R1544C		NM_015662.1	NP_056477.1	Q9UG01	IF172_HUMAN	intraflagellar transport 172	1544			R -> C (in SRTD10). {ECO:0000269|PubMed:24140113}.		bone development (GO:0060348)|brain development (GO:0007420)|cilium assembly (GO:0042384)|cytoplasmic microtubule organization (GO:0031122)|dorsal/ventral pattern formation (GO:0009953)|epidermis development (GO:0008544)|heart looping (GO:0001947)|hindgut development (GO:0061525)|left/right axis specification (GO:0070986)|limb development (GO:0060173)|negative regulation of epithelial cell proliferation (GO:0050680)|neural tube closure (GO:0001843)|Notch signaling pathway (GO:0007219)|palate development (GO:0060021)|positive regulation of smoothened signaling pathway (GO:0045880)|protein processing (GO:0016485)|smoothened signaling pathway (GO:0007224)|spinal cord motor neuron differentiation (GO:0021522)	axoneme (GO:0005930)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|intraciliary transport particle B (GO:0030992)|sperm midpiece (GO:0097225)|sperm principal piece (GO:0097228)|vesicle (GO:0031982)				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(17)|lung(17)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	43	Acute lymphoblastic leukemia(172;0.155)					GCTGCAGAGCGCGTGGCATAG	0.507																																						ENST00000260570.3																			0				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(17)|lung(17)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	43						c.(4630-4632)Cgc>Tgc		intraflagellar transport 172 homolog (Chlamydomonas)							147	135	139					2																	27670411		2203	4300	6503	SO:0001583	missense	26160				cilium assembly	cilium	binding	g.chr2:27670411G>A	AB033005	CCDS1755.1	2p23.3	2014-07-03	2014-07-03		ENSG00000138002	ENSG00000138002		"Intraflagellar transport homologs", "WD repeat domain containing"	30391	protein-coding gene	gene with protein product	"wimple homolog"	607386	"intraflagellar transport 172 homolog (Chlamydomonas)"			10788441, 10574461, 24140113	Standard	XM_005264254		Approved	SLB, wim, osm-1, NPHP17	uc002rku.3	Q9UG01	OTTHUMG00000128425	ENST00000260570.3:c.4630C>T	2.37:g.27670411G>A	ENSP00000260570:p.Arg1544Cys						p.R1544C	NM_015662.1	NP_056477.1	Q9UG01	IF172_HUMAN			42	4733	-	Acute lymphoblastic leukemia(172;0.155)		1544					A5PKZ0|B2RNU5|Q86X44|Q96HW4|Q9UFJ9|Q9ULP1	Missense_Mutation	SNP	ENST00000260570.3	37	c.4630C>T	CCDS1755.1	.	.	.	.	.	.	.	.	.	.	G	17.21	3.331907	0.60853	.	.	ENSG00000138002	ENST00000260570	T	0.52295	0.67	5.42	5.42	0.78866	.	0.000000	0.85682	D	0.000000	T	0.71945	0.3400	M	0.85542	2.76	0.80722	D	1	D	0.89917	1.0	D	0.78314	0.991	T	0.76302	-0.3009	10	0.66056	D	0.02	-10.175	15.9265	0.79621	0.0:0.0:1.0:0.0	.	1544	Q9UG01	IF172_HUMAN	C	1544	ENSP00000260570:R1544C	ENSP00000260570:R1544C	R	-	1	0	IFT172	27523915	1.000000	0.71417	0.924000	0.36721	0.370000	0.29829	5.879000	0.69690	2.558000	0.86282	0.561000	0.74099	CGC		0.507	IFT172-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250213.2	NM_015662		53	58	0	0	0	1	0	53	58					A	27670411	G	A	27670411	3	1	435	1	0	0	0	0	1	0	0	0	7557	1087	38	1	647	1	IFT172	2	27670411	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	5743	27670411	215528962	1039	21964											
CLIP4	79745	broad.mit.edu	37	chr2	29404659	29404659	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgggtcagtgggtgacaagcGctatttcacctgtaagccga	9	10	13	9	2	2	1	2	1	0	0	2	2	2	1	2	2	2	2	2	2	3	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:29404659G>A	ENST00000320081.5	+	16	2273	c.2018G>A	c.(2017-2019)cGc>cAc	p.R673H	CLIP4_ENST00000404424.1_Missense_Mutation_p.R673H|CLIP4_ENST00000401617.2_Intron	NM_024692.4	NP_078968.3	Q8N3C7	CLIP4_HUMAN	CAP-GLY domain containing linker protein family, member 4	673	CAP-Gly 3. {ECO:0000255|PROSITE- ProRule:PRU00045}.									endometrium(4)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|prostate(1)|skin(1)	26	Acute lymphoblastic leukemia(172;0.155)					GGTGACAAGCGCTATTTCACC	0.488																																						ENST00000320081.5																			0				endometrium(4)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|prostate(1)|skin(1)	26						c.(2017-2019)cGc>cAc		CAP-GLY domain containing linker protein family, member 4							124	123	124					2																	29404659		2203	4300	6503	SO:0001583	missense	79745							g.chr2:29404659G>A	AK024722	CCDS1770.1, CCDS74502.1	2p23	2013-01-10	2007-01-04	2007-01-04	ENSG00000115295	ENSG00000115295		"Ankyrin repeat domain containing"	26108	protein-coding gene	gene with protein product			"restin-like 2"	RSNL2			Standard	XM_005264562		Approved	FLJ21069	uc002rmv.3	Q8N3C7	OTTHUMG00000097837	ENST00000320081.5:c.2018G>A	2.37:g.29404659G>A	ENSP00000327009:p.Arg673His					CLIP4_ENST00000401617.2_Intron|CLIP4_ENST00000404424.1_Missense_Mutation_p.R673H	p.R673H	NM_024692.4	NP_078968.3	Q8N3C7	CLIP4_HUMAN			16	2273	+	Acute lymphoblastic leukemia(172;0.155)		673			CAP-Gly 3.		A0AV10|B2RMQ3|B7Z7N8|Q7Z4U3|Q96BR7|Q96MA5|Q9H7C0	Missense_Mutation	SNP	ENST00000320081.5	37	c.2018G>A	CCDS1770.1	.	.	.	.	.	.	.	.	.	.	G	29.2	4.987966	0.93106	.	.	ENSG00000115295	ENST00000404424;ENST00000402240;ENST00000320081;ENST00000379543;ENST00000530644	D;D	0.92965	-3.14;-3.14	5.69	4.82	0.62117	Cytoskeleton-associated protein, Gly-rich domain (4);Cytoskeleton-associated protein, Gly-rich conserved site (1);	0.111812	0.64402	D	0.000007	D	0.96090	0.8726	M	0.87328	2.875	0.80722	D	1	D	0.71674	0.998	D	0.67231	0.95	D	0.96309	0.9227	9	.	.	.	.	14.7655	0.69634	0.0693:0.0:0.9307:0.0	.	673	Q8N3C7	CLIP4_HUMAN	H	673;675;673;691;633	ENSP00000385594:R673H;ENSP00000327009:R673H	.	R	+	2	0	CLIP4	29258163	1.000000	0.71417	0.998000	0.56505	0.849000	0.48306	9.582000	0.98214	1.424000	0.47217	0.561000	0.74099	CGC		0.488	CLIP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215123.2	NM_024692		32	41	0	0	0	1	0	32	41					A	29404659	G	A	29404659	3	1	435	1	0	0	0	0	1	0	0	0	3535	1087	38	1	2076	1	CLIP4	2	29404659	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	1734248	29404659	213794714	1040	21965											
GALNT14	79623	broad.mit.edu	37	chr2	31168721	31168721	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gatatcgatcacagggcacaCcacccgcgtgtagtcctgta	10	8	10	13	3	1	0	1	0	0	0	3	2	2	0	3	1	0	3	3	1	3	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:31168721C>T	ENST00000349752.5	-	7	1309	c.670G>A	c.(670-672)Gtg>Atg	p.V224M	GALNT14_ENST00000324589.5_Missense_Mutation_p.V229M|GALNT14_ENST00000356174.3_Missense_Mutation_p.V191M|GALNT14_ENST00000420311.2_Missense_Mutation_p.V189M|GALNT14_ENST00000406653.1_Missense_Mutation_p.V204M|GALNT14_ENST00000486564.1_5'UTR	NM_024572.3	NP_078848.2	Q96FL9	GLT14_HUMAN	polypeptide N-acetylgalactosaminyltransferase 14	224					cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			cervix(1)|endometrium(3)|large_intestine(10)|liver(1)|lung(21)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)	43	Acute lymphoblastic leukemia(172;0.155)					ACAGGGCACACCACCCGCGTG	0.582																																						ENST00000349752.5																			0				cervix(1)|endometrium(3)|large_intestine(10)|liver(1)|lung(21)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)	43						c.(670-672)Gtg>Atg		UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 14 (GalNAc-T14)							93	75	81					2																	31168721		2203	4300	6503	SO:0001583	missense	79623					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr2:31168721C>T	AB078144	CCDS1773.2, CCDS58705.1, CCDS58706.1	2p23.2	2014-03-13	2014-03-13		ENSG00000158089	ENSG00000158089	2.4.1.41	"Glycosyltransferase family 2 domain containing"	22946	protein-coding gene	gene with protein product	"polypeptide GalNAc transferase 14"	608225	"UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 14 (GalNAc-T14)"			12507512	Standard	NM_024572		Approved	GalNac-T10, FLJ12691, GalNac-T14	uc002rns.3	Q96FL9	OTTHUMG00000074077	ENST00000349752.5:c.670G>A	2.37:g.31168721C>T	ENSP00000288988:p.Val224Met					GALNT14_ENST00000486564.1_5'UTR|GALNT14_ENST00000356174.3_Missense_Mutation_p.V191M|GALNT14_ENST00000420311.2_Missense_Mutation_p.V189M|GALNT14_ENST00000324589.5_Missense_Mutation_p.V229M|GALNT14_ENST00000406653.1_Missense_Mutation_p.V204M	p.V224M	NM_024572.3	NP_078848.2	Q96FL9	GLT14_HUMAN			7	1309	-	Acute lymphoblastic leukemia(172;0.155)		224					B3KV89|Q4ZG75|Q53SU1|Q53TJ0|Q8IVI4|Q9BRH1|Q9H827|Q9H9J8	Missense_Mutation	SNP	ENST00000349752.5	37	c.670G>A	CCDS1773.2	.	.	.	.	.	.	.	.	.	.	C	25.5	4.646013	0.87958	.	.	ENSG00000158089	ENST00000349752;ENST00000324589;ENST00000406653;ENST00000356174;ENST00000420311;ENST00000430167	T;T;T;T;T;T	0.70045	-0.45;-0.45;-0.45;-0.45;-0.45;-0.45	4.74	4.74	0.60224	Glycosyl transferase, family 2 (1);	0.064261	0.64402	D	0.000007	D	0.86117	0.5856	M	0.92880	3.355	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.999;1.0;1.0;1.0	D;D;D;D;D	0.87578	0.994;0.964;0.977;0.998;0.986	D	0.89943	0.4074	10	0.87932	D	0	.	17.693	0.88273	0.0:1.0:0.0:0.0	.	189;191;229;224;204	F5H263;Q96FL9-2;Q96FL9-3;Q96FL9;B3KV89	.;.;.;GLT14_HUMAN;.	M	224;229;204;191;189;191	ENSP00000288988:V224M;ENSP00000314500:V229M;ENSP00000385435:V204M;ENSP00000348497:V191M;ENSP00000415514:V189M;ENSP00000406399:V191M	ENSP00000314500:V229M	V	-	1	0	GALNT14	31022225	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	7.233000	0.78125	2.348000	0.79779	0.455000	0.32223	GTG		0.582	GALNT14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157264.1	NM_024572		5	43	0	0	0	1	0	5	43					T	31168721	C	T	31168721	3	4	435	1	0	0	0	0	1	0	0	0	6212	507	18	3	1024	3	GALNT14	2	31168721	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	1764062	31168721	212030652	1041	21966											
EHD3	30845	broad.mit.edu	37	chr2	31484534	31484534	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tatggccggatcgagcgggaGcaccagatctcacctgggga	9	6	15	11	3	1	1	1	0	1	1	3	5	1	4	3	5	2	1	3	5	1	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:31484534G>A	ENST00000322054.5	+	5	1320	c.1035G>A	c.(1033-1035)gaG>gaA	p.E345E	EHD3_ENST00000541626.1_Intron	NM_014600.2	NP_055415.1	Q9NZN3	EHD3_HUMAN	EH-domain containing 3	345					blood coagulation (GO:0007596)|endocytic recycling (GO:0032456)|protein homooligomerization (GO:0051260)|protein targeting to plasma membrane (GO:0072661)|regulation of cardiac muscle cell membrane potential (GO:0086036)	cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|endosome membrane (GO:0010008)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|recycling endosome membrane (GO:0055038)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|nucleic acid binding (GO:0003676)			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|skin(3)	33	Acute lymphoblastic leukemia(172;0.155)					TCGAGCGGGAGCACCAGATCT	0.582																																						ENST00000322054.5																			0				NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|skin(3)	33						c.(1033-1035)gaG>gaA		EH-domain containing 3							114	110	111					2																	31484534		2203	4300	6503	SO:0001819	synonymous_variant	30845				blood coagulation|endocytic recycling|protein homooligomerization	nucleus|plasma membrane|recycling endosome membrane	ATP binding|calcium ion binding|GTP binding|GTPase activity|nucleic acid binding|protein binding	g.chr2:31484534G>A	AF181264	CCDS1774.1	2p21	2013-01-10			ENSG00000013016	ENSG00000013016		"EF-hand domain containing"	3244	protein-coding gene	gene with protein product		605891		PAST3		10673336	Standard	NM_014600		Approved		uc002rnu.3	Q9NZN3	OTTHUMG00000099365	ENST00000322054.5:c.1035G>A	2.37:g.31484534G>A						EHD3_ENST00000541626.1_Intron	p.E345E	NM_014600.2	NP_055415.1	Q9NZN3	EHD3_HUMAN			5	1320	+	Acute lymphoblastic leukemia(172;0.155)		345					B4DFR5|D6W574|Q8N514|Q9NZB3	Silent	SNP	ENST00000322054.5	37	c.1035G>A	CCDS1774.1																																																																																				0.582	EHD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216810.1	NM_014600		27	35	0	0	0	1	0	27	35					A	31484534	G	A	31484534	2	1	435	1	0	0	0	0	0	0	0	1	4979	962	34	3		3	EHD3	2	31484534	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	315813	31484534	211714839	1042	21967											
XDH	7498	broad.mit.edu	37	chr2	31567584	31567584	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ggcagacaagctcactgtgtCcatgtaggcagctgtgacct	9	9	12	11	0	1	2	1	1	0	1	2	2	2	2	2	2	2	5	2	2	2	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:31567584C>T	ENST00000379416.3	-	31	3418	c.3370G>A	c.(3370-3372)Gac>Aac	p.D1124N		NM_000379.3	NP_000370.2	P47989	XDH_HUMAN	xanthine dehydrogenase	1124					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|lactation (GO:0007595)|negative regulation of endothelial cell differentiation (GO:0045602)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of gene expression (GO:0010629)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of vascular endothelial growth factor signaling pathway (GO:1900747)|negative regulation of vasculogenesis (GO:2001213)|nucleobase-containing small molecule metabolic process (GO:0055086)|positive regulation of p38MAPK cascade (GO:1900745)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide catabolic process (GO:0006195)|small molecule metabolic process (GO:0044281)|xanthine catabolic process (GO:0009115)	cytosol (GO:0005829)|extracellular space (GO:0005615)|peroxisome (GO:0005777)	2 iron, 2 sulfur cluster binding (GO:0051537)|electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|iron ion binding (GO:0005506)|molybdopterin cofactor binding (GO:0043546)|protein homodimerization activity (GO:0042803)|UDP-N-acetylmuramate dehydrogenase activity (GO:0008762)|xanthine dehydrogenase activity (GO:0004854)|xanthine oxidase activity (GO:0004855)			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74	Acute lymphoblastic leukemia(172;0.155)				Aldesleukin(DB00041)|Allopurinol(DB00437)|Azathioprine(DB00993)|Carboplatin(DB00958)|Carvedilol(DB01136)|Chlorphenesin(DB00856)|Cisplatin(DB00515)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Doxorubicin(DB00997)|Flavin adenine dinucleotide(DB03147)|L-Carnitine(DB00583)|Menadione(DB00170)|Mercaptopurine(DB01033)|Nitrofural(DB00336)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Spermine(DB00127)|Trifluoperazine(DB00831)	CTCACTGTGTCCATGTAGGCA	0.527																																					Colon(66;682 1445 30109 40147)	ENST00000379416.3																			0				breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74						c.(3370-3372)Gac>Aac		xanthine dehydrogenase	Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163)						159	123	135					2																	31567584		2203	4300	6503	SO:0001583	missense	7498				purine nucleotide catabolic process|xanthine catabolic process	cytosol|extracellular region|peroxisome	2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity	g.chr2:31567584C>T	D11456	CCDS1775.1	2p23.1	2009-07-10	2003-03-20		ENSG00000158125	ENSG00000158125	1.17.1.4		12805	protein-coding gene	gene with protein product		607633	"xanthene dehydrogenase"			8224915	Standard	NM_000379		Approved	XOR, XO	uc002rnv.1	P47989	OTTHUMG00000099385	ENST00000379416.3:c.3370G>A	2.37:g.31567584C>T	ENSP00000368727:p.Asp1124Asn						p.D1124N	NM_000379.3	NP_000370.2	P47989	XDH_HUMAN			31	3418	-	Acute lymphoblastic leukemia(172;0.155)		1124					Q16681|Q16712|Q4PJ16	Missense_Mutation	SNP	ENST00000379416.3	37	c.3370G>A	CCDS1775.1	.	.	.	.	.	.	.	.	.	.	C	13.03	2.114947	0.37339	.	.	ENSG00000158125	ENST00000379416	T	0.38560	1.13	5.11	0.077	0.14406	Aldehyde oxidase/xanthine dehydrogenase, molybdopterin binding (3);	0.547337	0.21518	N	0.073278	T	0.26955	0.0660	N	0.25380	0.74	0.09310	N	1	B	0.14805	0.011	B	0.20955	0.032	T	0.16988	-1.0384	10	0.37606	T	0.19	.	9.3738	0.38270	0.0:0.4355:0.0:0.5645	.	1124	P47989	XDH_HUMAN	N	1124	ENSP00000368727:D1124N	ENSP00000368727:D1124N	D	-	1	0	XDH	31421088	0.000000	0.05858	0.000000	0.03702	0.490000	0.33462	-0.159000	0.10056	-0.213000	0.10094	-0.275000	0.10095	GAC		0.527	XDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216840.1	NM_000379		7	24	0	0	0	1	0	7	24					T	31567584	C	T	31567584	3	4	435	1	0	0	0	0	1	0	0	0	17423	855	30	3	655	3	XDH	2	31567584	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	83050	31567584	211631789	1043	21968											
XDH	7498	broad.mit.edu	37	chr2	31611156	31611156	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatctcctccacagcatccAccatcctagagagatgatga	12	8	6	15	0	1	4	0	2	1	2	5	5	4	4	6	0	1	1	6	0	1	1	rs45462996		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:31611156A>G	ENST00000379416.3	-	7	549	c.501T>C	c.(499-501)ggT>ggC	p.G167G	XDH_ENST00000491727.1_5'UTR	NM_000379.3	NP_000370.2	P47989	XDH_HUMAN	xanthine dehydrogenase	167					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|lactation (GO:0007595)|negative regulation of endothelial cell differentiation (GO:0045602)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of gene expression (GO:0010629)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of vascular endothelial growth factor signaling pathway (GO:1900747)|negative regulation of vasculogenesis (GO:2001213)|nucleobase-containing small molecule metabolic process (GO:0055086)|positive regulation of p38MAPK cascade (GO:1900745)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide catabolic process (GO:0006195)|small molecule metabolic process (GO:0044281)|xanthine catabolic process (GO:0009115)	cytosol (GO:0005829)|extracellular space (GO:0005615)|peroxisome (GO:0005777)	2 iron, 2 sulfur cluster binding (GO:0051537)|electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|iron ion binding (GO:0005506)|molybdopterin cofactor binding (GO:0043546)|protein homodimerization activity (GO:0042803)|UDP-N-acetylmuramate dehydrogenase activity (GO:0008762)|xanthine dehydrogenase activity (GO:0004854)|xanthine oxidase activity (GO:0004855)			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74	Acute lymphoblastic leukemia(172;0.155)				Aldesleukin(DB00041)|Allopurinol(DB00437)|Azathioprine(DB00993)|Carboplatin(DB00958)|Carvedilol(DB01136)|Chlorphenesin(DB00856)|Cisplatin(DB00515)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Doxorubicin(DB00997)|Flavin adenine dinucleotide(DB03147)|L-Carnitine(DB00583)|Menadione(DB00170)|Mercaptopurine(DB01033)|Nitrofural(DB00336)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Spermine(DB00127)|Trifluoperazine(DB00831)	CACAGCATCCACCATCCTAGA	0.443																																					Colon(66;682 1445 30109 40147)	ENST00000379416.3																			0				breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74						c.(499-501)ggT>ggC		xanthine dehydrogenase	Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163)						131	118	122					2																	31611156		2203	4300	6503	SO:0001819	synonymous_variant	7498				purine nucleotide catabolic process|xanthine catabolic process	cytosol|extracellular region|peroxisome	2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity	g.chr2:31611156A>G	D11456	CCDS1775.1	2p23.1	2009-07-10	2003-03-20		ENSG00000158125	ENSG00000158125	1.17.1.4		12805	protein-coding gene	gene with protein product		607633	"xanthene dehydrogenase"			8224915	Standard	NM_000379		Approved	XOR, XO	uc002rnv.1	P47989	OTTHUMG00000099385	ENST00000379416.3:c.501T>C	2.37:g.31611156A>G						XDH_ENST00000491727.1_5'UTR	p.G167G	NM_000379.3	NP_000370.2	P47989	XDH_HUMAN			7	549	-	Acute lymphoblastic leukemia(172;0.155)		167					Q16681|Q16712|Q4PJ16	Silent	SNP	ENST00000379416.3	37	c.501T>C	CCDS1775.1																																																																																				0.443	XDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216840.1	NM_000379		13	44	0	0	0	1	0	13	44					G	31611156	A	G	31611156	2	3	435	1	0	0	0	0	0	0	0	1	17423	146	6	4		4	XDH	2	31611156	Silent	SNP	A	TCGA-XK-AAIW-01A-11D-A41K-08	43572	31611156	211588217	1044	21969											
SRD5A2	0	broad.mit.edu	37	chr2	31754466	31754466	+	RNA	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaccaagtggccagggcataGccgatccattcaatgatctc	11	8	10	12	1	2	1	1	1	1	0	4	3	3	1	4	2	1	1	4	2	3	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:31754466G>T	ENST00000435713.1	+	0	255				SRD5A2_ENST00000405650.1_RNA																							CCAGGGCATAGCCGATCCATT	0.473																																						ENST00000405650.1																			0													steroid-5-alpha-reductase, alpha polypeptide 2 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 2)	Azelaic Acid(DB00548)|Dutasteride(DB01126)						74	74	74					2																	31754466		1954	4143	6097			6716				androgen biosynthetic process|cell differentiation|cell-cell signaling|male gonad development	endoplasmic reticulum membrane|integral to membrane|microsome	3-oxo-5-alpha-steroid 4-dehydrogenase activity|sterol 5-alpha reductase activity	g.chr2:31754466G>T																													2.37:g.31754466G>T						AL133247.2_ENST00000435713.1_RNA				P31213	S5A2_HUMAN			0	774	-	Acute lymphoblastic leukemia(172;0.155)								RNA	SNP	ENST00000435713.1	37																																																																																						0.473	AL133247.2-001	KNOWN	basic|exp_conf	antisense	antisense	OTTHUMT00000325125.1			13	20	1	0	7.03913e-09	1	7.44699e-09	13	20					T	31754466	G	T	31754466	1	4	435	0	1	0	0	0	0	0	0	0	15138	958	34	5		5	SRD5A2	2	31754466	RNA	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	143310	31754466	211444907	1045	21970											
BIRC6	57448	broad.mit.edu	37	chr2	32728305	32728305	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cataactttgcacccctcggTaagaaaagtgttactaaatc	14	11	6	10	1	0	1	0	0	0	1	2	1	0	1	2	1	3	3	2	1	7	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:32728305T>C	ENST00000421745.2	+	49	9633		c.e49+2			NM_016252.3	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6						apoptotic process (GO:0006915)|labyrinthine layer development (GO:0060711)|mitotic nuclear division (GO:0007067)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cell proliferation (GO:0042127)|regulation of cytokinesis (GO:0032465)|spongiotrophoblast layer development (GO:0060712)	endosome (GO:0005768)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|midbody (GO:0030496)|spindle pole (GO:0000922)|trans-Golgi network (GO:0005802)	acid-amino acid ligase activity (GO:0016881)|cysteine-type endopeptidase inhibitor activity (GO:0004869)|ubiquitin-protein transferase activity (GO:0004842)			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					CACCCCTCGGTAAGAAAAGTG	0.348																																					Pancreas(94;175 1509 16028 18060 45422)	ENST00000421745.2																			0				NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172						c.e49+2		baculoviral IAP repeat containing 6							55	55	55					2																	32728305		2203	4300	6503	SO:0001630	splice_region_variant	57448				anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding	g.chr2:32728305T>C	AF265555	CCDS33175.2	2p22.3	2011-01-25	2011-01-25		ENSG00000115760	ENSG00000115760		"Baculoviral IAP repeat containing", "Ubiquitin-conjugating enzymes E2"	13516	protein-coding gene	gene with protein product	"apollon"	605638	"baculoviral IAP repeat-containing 6"			10544019	Standard	NM_016252		Approved	BRUCE	uc010ezu.3	Q9NR09	OTTHUMG00000150528	ENST00000421745.2:c.9499+2T>C	2.37:g.32728305T>C								NM_016252.3	NP_057336.3	Q9NR09	BIRC6_HUMAN			49	9633	+	Acute lymphoblastic leukemia(172;0.155)							Q9ULD1	Splice_Site	SNP	ENST00000421745.2	37		CCDS33175.2	.	.	.	.	.	.	.	.	.	.	T	20.2	3.943699	0.73672	.	.	ENSG00000115760	ENST00000421745	.	.	.	6.17	6.17	0.99709	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.8222	0.85835	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	BIRC6	32581809	1.000000	0.71417	0.998000	0.56505	0.762000	0.43233	7.978000	0.88095	2.371000	0.80710	0.533000	0.62120	.		0.348	BIRC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318769.3	NM_016252	Intron	6	7	0	0	0	1	0	6	7					C	32728305	T	C	32728305	5	2	435	1	0	0	0	0	0	0	1	0	1438	1652	57	4	9695	4	BIRC6	2	32728305	Splice_Site	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	973839	32728305	210471068	1046	21971											
BIRC6	57448	broad.mit.edu	37	chr2	32756565	32756565	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttttgcaggaatgggtggaCtggctcttattgctgaaaga	9	14	13	5	0	1	2	0	1	1	1	1	4	1	4	0	4	2	3	0	4	3	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:32756565C>T	ENST00000421745.2	+	61	12372	c.12238C>T	c.(12238-12240)Ctg>Ttg	p.L4080L	MIR558_ENST00000384920.1_RNA	NM_016252.3	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	4080					apoptotic process (GO:0006915)|labyrinthine layer development (GO:0060711)|mitotic nuclear division (GO:0007067)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cell proliferation (GO:0042127)|regulation of cytokinesis (GO:0032465)|spongiotrophoblast layer development (GO:0060712)	endosome (GO:0005768)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|midbody (GO:0030496)|spindle pole (GO:0000922)|trans-Golgi network (GO:0005802)	acid-amino acid ligase activity (GO:0016881)|cysteine-type endopeptidase inhibitor activity (GO:0004869)|ubiquitin-protein transferase activity (GO:0004842)			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					AATGGGTGGACTGGCTCTTAT	0.413																																					Pancreas(94;175 1509 16028 18060 45422)	ENST00000421745.2																			0				NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172						c.(12238-12240)Ctg>Ttg		baculoviral IAP repeat containing 6							103	88	93					2																	32756565		2203	4300	6503	SO:0001819	synonymous_variant	57448				anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding	g.chr2:32756565C>T	AF265555	CCDS33175.2	2p22.3	2011-01-25	2011-01-25		ENSG00000115760	ENSG00000115760		"Baculoviral IAP repeat containing", "Ubiquitin-conjugating enzymes E2"	13516	protein-coding gene	gene with protein product	"apollon"	605638	"baculoviral IAP repeat-containing 6"			10544019	Standard	NM_016252		Approved	BRUCE	uc010ezu.3	Q9NR09	OTTHUMG00000150528	ENST00000421745.2:c.12238C>T	2.37:g.32756565C>T							p.L4080L	NM_016252.3	NP_057336.3	Q9NR09	BIRC6_HUMAN			61	12372	+	Acute lymphoblastic leukemia(172;0.155)		4080					Q9ULD1	Silent	SNP	ENST00000421745.2	37	c.12238C>T	CCDS33175.2																																																																																				0.413	BIRC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318769.3	NM_016252		9	4	0	0	0	1	0	9	4					T	32756565	C	T	32756565	2	4	435	1	0	0	0	0	0	0	0	1	1438	564	20	3		3	BIRC6	2	32756565	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	28260	32756565	210442808	1047	21972											
LTBP1	4052	broad.mit.edu	37	chr2	33588460	33588460	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aatttttttccccgtagatgCagatgaatgcctactttttg	9	17	7	8	1	0	3	0	1	0	2	1	3	1	3	3	0	3	2	3	0	4	7			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:33588460C>T	ENST00000404816.2	+	29	4627	c.4274C>T	c.(4273-4275)gCa>gTa	p.A1425V	LTBP1_ENST00000418533.2_Missense_Mutation_p.A1057V|LTBP1_ENST00000402934.1_Missense_Mutation_p.A1044V|LTBP1_ENST00000354476.3_Missense_Mutation_p.A1426V|LTBP1_ENST00000407925.1_Missense_Mutation_p.A1099V|LTBP1_ENST00000272273.5_Missense_Mutation_p.A323V|LTBP1_ENST00000404525.1_Missense_Mutation_p.A1046V|LTBP1_ENST00000390003.4_Missense_Mutation_p.A1100V			Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding protein 1	1425	EGF-like 15; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				extracellular matrix organization (GO:0030198)|sequestering of TGFbeta in extracellular matrix (GO:0035583)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta-activated receptor activity (GO:0005024)			breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				CCCGTAGATGCAGATGAATGC	0.363																																						ENST00000404816.2																			0				breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108						c.(4273-4275)gCa>gTa		latent transforming growth factor beta binding protein 1							99	92	94					2																	33588460		2203	4300	6503	SO:0001583	missense	4052				negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta	proteinaceous extracellular matrix	calcium ion binding|growth factor binding|transforming growth factor beta receptor activity	g.chr2:33588460C>T		CCDS33177.1, CCDS33178.1, CCDS33177.2, CCDS33178.2, CCDS54344.1, CCDS54345.1	2p22-p21	2008-05-23			ENSG00000049323	ENSG00000049323		"Latent transforming growth factor, beta binding proteins"	6714	protein-coding gene	gene with protein product	"TGF-beta1-BP-1"	150390				2350783, 11104663	Standard	NM_206943		Approved		uc021vft.1	Q14766	OTTHUMG00000152118	ENST00000404816.2:c.4274C>T	2.37:g.33588460C>T	ENSP00000386043:p.Ala1425Val					LTBP1_ENST00000354476.3_Missense_Mutation_p.A1426V|LTBP1_ENST00000272273.5_Missense_Mutation_p.A323V|LTBP1_ENST00000390003.4_Missense_Mutation_p.A1100V|LTBP1_ENST00000418533.2_Missense_Mutation_p.A1057V|LTBP1_ENST00000402934.1_Missense_Mutation_p.A1044V|LTBP1_ENST00000404525.1_Missense_Mutation_p.A1046V|LTBP1_ENST00000407925.1_Missense_Mutation_p.A1099V	p.A1425V			Q14766	LTBP1_HUMAN			29	4627	+	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)	1425			EGF-like 15; calcium-binding (Potential).		A1L3V1|P22064|Q53SD8|Q53SF3|Q53SG1|Q59HF7|Q8TD95	Missense_Mutation	SNP	ENST00000404816.2	37	c.4274C>T	CCDS33177.2	.	.	.	.	.	.	.	.	.	.	C	24.3	4.515580	0.85389	.	.	ENSG00000049323	ENST00000404816;ENST00000354476;ENST00000390003;ENST00000418533;ENST00000402934;ENST00000404525;ENST00000407925;ENST00000272273;ENST00000422669	D;D;D;D;D;D;D;D;T	0.95069	-3.6;-3.6;-3.6;-3.6;-3.6;-3.6;-3.6;-2.43;-1.41	5.34	5.34	0.76211	EGF-like calcium-binding, conserved site (1);	.	.	.	.	D	0.89455	0.6720	N	0.00642	-1.3	0.80722	D	1	D;D;D;D;D;D;D	0.89917	0.994;1.0;1.0;0.985;1.0;1.0;1.0	P;D;D;D;D;D;D	0.91635	0.893;0.998;0.997;0.918;0.999;0.999;0.999	D	0.85878	0.1420	9	0.02654	T	1	.	19.0478	0.93028	0.0:1.0:0.0:0.0	.	323;1425;1057;1046;1099;1100;1426	E7EUU6;Q14766;E7EV71;Q14766-3;Q14766-2;Q14766-5;Q14766-4	.;LTBP1_HUMAN;.;.;.;.;.	V	1425;1426;1100;1057;1044;1046;1099;323;261	ENSP00000386043:A1425V;ENSP00000346467:A1426V;ENSP00000374653:A1100V;ENSP00000393057:A1057V;ENSP00000384373:A1044V;ENSP00000385359:A1046V;ENSP00000384091:A1099V;ENSP00000272273:A323V;ENSP00000395211:A261V	ENSP00000272273:A323V	A	+	2	0	LTBP1	33441964	0.996000	0.38824	0.993000	0.49108	0.748000	0.42578	3.249000	0.51437	2.502000	0.84385	0.563000	0.77884	GCA		0.363	LTBP1-014	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000326227.2	NM_206943		11	62	0	0	0	1	0	11	62					T	33588460	C	T	33588460	3	4	435	1	0	0	0	0	1	0	0	0	9073	710	25	3	4443	3	LTBP1	2	33588460	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	831895	33588460	209610913	1048	21973											
RASGRP3	25780	broad.mit.edu	37	chr2	33745674	33745674	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttggatcttggtttgattcgTatgactgaggaatttcggga	8	16	13	4	2	1	3	0	3	1	0	3	6	1	6	0	4	0	2	0	4	2	6			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:33745674T>C	ENST00000403687.3	+	6	1031	c.291T>C	c.(289-291)cgT>cgC	p.R97R	RASGRP3_ENST00000407811.1_Silent_p.R97R|RASGRP3_ENST00000402538.3_Silent_p.R97R	NM_001139488.1	NP_001132960.1	Q8IV61	GRP3_HUMAN	RAS guanyl releasing protein 3 (calcium and DAG-regulated)	97	N-terminal Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00135}.				MAPK cascade (GO:0000165)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Rap GTPase activity (GO:0032854)|Ras protein signal transduction (GO:0007265)|small GTPase mediated signal transduction (GO:0007264)	guanyl-nucleotide exchange factor complex (GO:0032045)|integral component of plasma membrane (GO:0005887)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|diacylglycerol binding (GO:0019992)|guanyl-nucleotide exchange factor activity (GO:0005085)|Rap GTPase activator activity (GO:0046582)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|signal transducer activity (GO:0004871)			large_intestine(3)|lung(3)|ovary(2)|pancreas(1)|stomach(2)	11	all_hematologic(175;0.115)					GTTTGATTCGTATGACTGAGG	0.423																																						ENST00000403687.3																			0				large_intestine(3)|lung(3)|ovary(2)|pancreas(1)|stomach(2)	11						c.(289-291)cgT>cgC		RAS guanyl releasing protein 3 (calcium and DAG-regulated)							256	250	252					2																	33745674		1901	4115	6016	SO:0001819	synonymous_variant	25780				MAPKKK cascade|small GTPase mediated signal transduction	integral to plasma membrane|intracellular	calcium ion binding|diacylglycerol binding|guanyl-nucleotide exchange factor activity|protein binding|Rap GTPase activator activity|signal transducer activity	g.chr2:33745674T>C	AB020653	CCDS46256.1, CCDS54346.1	2p25.1-p24.1	2013-01-10			ENSG00000152689	ENSG00000152689		"EF-hand domain containing"	14545	protein-coding gene	gene with protein product		609531				10048485, 10934204	Standard	NM_170672		Approved	KIAA0846, GRP3	uc002roy.3	Q8IV61	OTTHUMG00000152124	ENST00000403687.3:c.291T>C	2.37:g.33745674T>C						RASGRP3_ENST00000407811.1_Silent_p.R97R|RASGRP3_ENST00000402538.3_Silent_p.R97R	p.R97R	NM_001139488.1	NP_001132960.1	Q8IV61	GRP3_HUMAN			6	1031	+	all_hematologic(175;0.115)		97			N-terminal Ras-GEF.		D6W583|O94931|Q53SD7	Silent	SNP	ENST00000403687.3	37	c.291T>C	CCDS46256.1																																																																																				0.423	RASGRP3-006	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000325462.2	NM_015376		26	128	0	0	0	1	0	26	128					C	33745674	T	C	33745674	2	2	435	1	0	0	0	0	0	0	0	1	13076	1625	57	4		4	RASGRP3	2	33745674	Silent	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	157214	33745674	209453699	1049	21974											
CRIM1	51232	broad.mit.edu	37	chr2	36704095	36704095	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggagacatgtttcgaatggAcaactgtcggttctgtcgat	9	13	12	7	3	1	1	0	0	1	1	4	5	1	2	0	3	1	2	0	3	2	2	rs150977654	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:36704095A>G	ENST00000280527.2	+	6	1422	c.1055A>G	c.(1054-1056)gAc>gGc	p.D352G		NM_016441.2	NP_057525.1	Q9NZV1	CRIM1_HUMAN	cysteine rich transmembrane BMP regulator 1 (chordin-like)	352	VWFC 1. {ECO:0000255|PROSITE- ProRule:PRU00220}.				insulin-like growth factor receptor signaling pathway (GO:0048009)|nervous system development (GO:0007399)|regulation of cell growth (GO:0001558)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	insulin-like growth factor-activated receptor activity (GO:0005010)|PDZ domain binding (GO:0030165)|serine-type endopeptidase inhibitor activity (GO:0004867)			autonomic_ganglia(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(15)|liver(2)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	45		all_hematologic(82;0.131)|Acute lymphoblastic leukemia(82;0.154)				TTTCGAATGGACAACTGTCGG	0.463													A|||	2	0.000399361	0.0015	0	5008	,	,		20267	0		0	False		,,,				2504	0					ENST00000280527.2																			0				autonomic_ganglia(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(15)|liver(2)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	45						c.(1054-1056)gAc>gGc		cysteine rich transmembrane BMP regulator 1 (chordin-like)		A	GLY/ASP	3,4403	6.2+/-15.9	0,3,2200	162	153	156		1055	6.2	1	2	dbSNP_134	156	0,8600		0,0,4300	no	missense	CRIM1	NM_016441.2	94	0,3,6500	GG,GA,AA		0.0,0.0681,0.0231	benign	352/1037	36704095	3,13003	2203	4300	6503	SO:0001583	missense	51232				nervous system development|regulation of cell growth	extracellular region|integral to membrane|plasma membrane	insulin-like growth factor binding|insulin-like growth factor receptor activity|serine-type endopeptidase inhibitor activity	g.chr2:36704095A>G	AF168681	CCDS1783.1	2p21	2010-06-29	2005-07-25		ENSG00000150938	ENSG00000150938			2359	protein-coding gene	gene with protein product		606189	"cysteine-rich motor neuron 1"	S52		10642437	Standard	NM_016441		Approved		uc002rpd.3	Q9NZV1	OTTHUMG00000099419	ENST00000280527.2:c.1055A>G	2.37:g.36704095A>G	ENSP00000280527:p.Asp352Gly						p.D352G	NM_016441.2	NP_057525.1	Q9NZV1	CRIM1_HUMAN			6	1422	+		all_hematologic(82;0.131)|Acute lymphoblastic leukemia(82;0.154)	352			VWFC 1.		Q2M2G4|Q59GH0|Q7LCQ5|Q9H318	Missense_Mutation	SNP	ENST00000280527.2	37	c.1055A>G	CCDS1783.1	.	.	.	.	.	.	.	.	.	.	A	29.4	5.000767	0.93227	6.81E-4	0.0	ENSG00000150938	ENST00000280527	T	0.68903	-0.36	6.17	6.17	0.99709	von Willebrand factor, type C (3);	0.000000	0.85682	D	0.000000	T	0.80099	0.4561	L	0.61036	1.89	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.80377	-0.1408	10	0.52906	T	0.07	-22.319	16.0034	0.80327	1.0:0.0:0.0:0.0	.	352	Q9NZV1	CRIM1_HUMAN	G	352	ENSP00000280527:D352G	ENSP00000280527:D352G	D	+	2	0	CRIM1	36557599	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	9.194000	0.94962	2.371000	0.80710	0.533000	0.62120	GAC		0.463	CRIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216878.2	NM_016441		39	42	0	0	0	1	0	39	42					G	36704095	A	G	36704095	3	3	435	1	0	0	0	0	1	0	0	0	3873	275	10	4	1077	4	CRIM1	2	36704095	Missense_Mutation	SNP	A	TCGA-XK-AAIW-01A-11D-A41K-08	2958421	36704095	206495278	1050	21975											
STRN	6801	broad.mit.edu	37	chr2	37076751	37076751	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	actttctagattccataaacGtattgaacagtcatgaccta	14	13	5	9	1	2	3	1	2	1	1	3	3	3	3	2	0	2	1	2	0	6	7	rs562258179		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:37076751G>A	ENST00000263918.4	-	18	2199	c.2191C>T	c.(2191-2193)Cgt>Tgt	p.R731C	STRN_ENST00000379213.2_Missense_Mutation_p.R682C	NM_003162.3	NP_003153.2	O43815	STRN_HUMAN	striatin, calmodulin binding protein	731					dendrite development (GO:0016358)|locomotory behavior (GO:0007626)|negative regulation of cell proliferation (GO:0008285)|tight junction assembly (GO:0070830)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|tight junction (GO:0005923)	armadillo repeat domain binding (GO:0070016)|calmodulin binding (GO:0005516)|estrogen receptor binding (GO:0030331)|protein complex binding (GO:0032403)|protein phosphatase 2A binding (GO:0051721)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(16)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	33		Ovarian(717;0.0129)|all_hematologic(82;0.21)				TTCCATAAACGTATTGAACAG	0.313																																						ENST00000263918.4																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(16)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	33						c.(2191-2193)Cgt>Tgt		striatin, calmodulin binding protein							81	82	82					2																	37076751		2203	4300	6503	SO:0001583	missense	6801				dendrite development|locomotory behavior|negative regulation of cell proliferation|tight junction assembly|Wnt receptor signaling pathway	cytoplasm|dendritic spine|neuronal cell body|postsynaptic density|postsynaptic membrane|tight junction	armadillo repeat domain binding|calmodulin binding|estrogen receptor binding|protein complex binding|protein phosphatase 2A binding	g.chr2:37076751G>A	AJ223814	CCDS1784.1	2p22.2	2013-01-10	2001-11-28		ENSG00000115808	ENSG00000115808		"WD repeat domain containing"	11424	protein-coding gene	gene with protein product		614765	"striatin, calmodulin-binding protein"			9693043, 8769426	Standard	NM_003162		Approved	SG2NA	uc002rpn.3	O43815	OTTHUMG00000100959	ENST00000263918.4:c.2191C>T	2.37:g.37076751G>A	ENSP00000263918:p.Arg731Cys					STRN_ENST00000379213.2_Missense_Mutation_p.R682C	p.R731C	NM_003162.3	NP_003153.2	O43815	STRN_HUMAN			18	2199	-		Ovarian(717;0.0129)|all_hematologic(82;0.21)	731					Q3KP65|Q53TQ8|Q9NP38	Missense_Mutation	SNP	ENST00000263918.4	37	c.2191C>T	CCDS1784.1	.	.	.	.	.	.	.	.	.	.	G	19.61	3.859775	0.71834	.	.	ENSG00000115808	ENST00000263918;ENST00000538092;ENST00000379213	T;T	0.68025	-0.3;-0.3	5.64	5.64	0.86602	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40 repeat, conserved site (1);WD40-repeat-containing domain (1);	0.047568	0.85682	D	0.000000	D	0.83631	0.5296	M	0.86864	2.845	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.996;0.998	D	0.86104	0.1558	10	0.87932	D	0	-10.8957	14.5287	0.67909	0.0:0.0:0.8535:0.1465	.	682;731	O43815-2;O43815	.;STRN_HUMAN	C	731;706;682	ENSP00000263918:R731C;ENSP00000368513:R682C	ENSP00000263918:R731C	R	-	1	0	STRN	36930255	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.507000	0.73717	2.658000	0.90341	0.655000	0.94253	CGT		0.313	STRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218568.1			7	29	0	0	0	1	0	7	29					A	37076751	G	A	37076751	3	1	435	1	0	0	0	0	1	0	0	0	15328	1145	40	1	155	1	STRN	2	37076751	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	372656	37076751	206122622	1051	21976											
STRN	6801	broad.mit.edu	37	chr2	37078199	37078199	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	catgagcagtgatgctgatcGgaagagtaggatgactgatg	12	9	15	5	1	0	6	0	5	0	1	1	8	0	8	0	2	2	3	0	2	2	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:37078199G>A	ENST00000263918.4	-	16	2038	c.2030C>T	c.(2029-2031)cCg>cTg	p.P677L	STRN_ENST00000379213.2_Missense_Mutation_p.P628L	NM_003162.3	NP_003153.2	O43815	STRN_HUMAN	striatin, calmodulin binding protein	677				P -> S (in Ref. 1; CAA11560). {ECO:0000305}.	dendrite development (GO:0016358)|locomotory behavior (GO:0007626)|negative regulation of cell proliferation (GO:0008285)|tight junction assembly (GO:0070830)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|tight junction (GO:0005923)	armadillo repeat domain binding (GO:0070016)|calmodulin binding (GO:0005516)|estrogen receptor binding (GO:0030331)|protein complex binding (GO:0032403)|protein phosphatase 2A binding (GO:0051721)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(16)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	33		Ovarian(717;0.0129)|all_hematologic(82;0.21)				GATGCTGATCGGAAGAGTAGG	0.303																																						ENST00000263918.4																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(16)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	33						c.(2029-2031)cCg>cTg		striatin, calmodulin binding protein							98	96	97					2																	37078199		2203	4300	6503	SO:0001583	missense	6801				dendrite development|locomotory behavior|negative regulation of cell proliferation|tight junction assembly|Wnt receptor signaling pathway	cytoplasm|dendritic spine|neuronal cell body|postsynaptic density|postsynaptic membrane|tight junction	armadillo repeat domain binding|calmodulin binding|estrogen receptor binding|protein complex binding|protein phosphatase 2A binding	g.chr2:37078199G>A	AJ223814	CCDS1784.1	2p22.2	2013-01-10	2001-11-28		ENSG00000115808	ENSG00000115808		"WD repeat domain containing"	11424	protein-coding gene	gene with protein product		614765	"striatin, calmodulin-binding protein"			9693043, 8769426	Standard	NM_003162		Approved	SG2NA	uc002rpn.3	O43815	OTTHUMG00000100959	ENST00000263918.4:c.2030C>T	2.37:g.37078199G>A	ENSP00000263918:p.Pro677Leu					STRN_ENST00000379213.2_Missense_Mutation_p.P628L	p.P677L	NM_003162.3	NP_003153.2	O43815	STRN_HUMAN			16	2038	-		Ovarian(717;0.0129)|all_hematologic(82;0.21)	677	P -> S (in Ref. 1; CAA11560).				Q3KP65|Q53TQ8|Q9NP38	Missense_Mutation	SNP	ENST00000263918.4	37	c.2030C>T	CCDS1784.1	.	.	.	.	.	.	.	.	.	.	G	33	5.282685	0.95489	.	.	ENSG00000115808	ENST00000263918;ENST00000538092;ENST00000379213	T;T	0.28454	1.61;1.61	6.04	6.04	0.98038	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.66157	0.2761	M	0.90650	3.135	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.81914	0.995;0.989	T	0.70525	-0.4848	10	0.66056	D	0.02	-10.9208	20.5948	0.99439	0.0:0.0:1.0:0.0	.	628;677	O43815-2;O43815	.;STRN_HUMAN	L	677;652;628	ENSP00000263918:P677L;ENSP00000368513:P628L	ENSP00000263918:P677L	P	-	2	0	STRN	36931703	1.000000	0.71417	0.965000	0.40720	0.983000	0.72400	9.869000	0.99810	2.873000	0.98535	0.563000	0.77884	CCG		0.303	STRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218568.1			16	33	0	0	0	1	0	16	33					A	37078199	G	A	37078199	3	1	435	1	0	0	0	0	1	0	0	0	15328	1116	39	2	324	2	STRN	2	37078199	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	1448	37078199	206121174	1052	21977											
CEBPZ	10153	broad.mit.edu	37	chr2	37444157	37444157	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtctttgcaaaaagggccacGgagggatgaaaatgcacaga	15	6	13	7	1	1	2	0	1	1	1	1	4	1	4	1	3	2	2	1	3	4	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:37444157G>A	ENST00000234170.5	-	6	2323	c.2178C>T	c.(2176-2178)tcC>tcT	p.S726S		NM_005760.2	NP_005751.2	Q03701	CEBPZ_HUMAN	CCAAT/enhancer binding protein (C/EBP), zeta	726					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			breast(3)|endometrium(2)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28		all_hematologic(82;0.21)				AAAGGGCCACGGAGGGATGAA	0.294																																						ENST00000234170.5																			0				breast(3)|endometrium(2)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28						c.(2176-2178)tcC>tcT		CCAAT/enhancer binding protein (C/EBP), zeta							63	68	66					2																	37444157		2203	4300	6503	SO:0001819	synonymous_variant	10153				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding	g.chr2:37444157G>A	M37197	CCDS1787.1	2p22.3	2008-09-03	2008-09-03		ENSG00000115816	ENSG00000115816			24218	protein-coding gene	gene with protein product		612828				2247079, 12534345	Standard	NM_005760		Approved	CBF2, CTF2	uc002rpz.3	Q03701	OTTHUMG00000100960	ENST00000234170.5:c.2178C>T	2.37:g.37444157G>A							p.S726S	NM_005760.2	NP_005751.2	Q03701	CEBPZ_HUMAN			6	2323	-		all_hematologic(82;0.21)	726					Q8NE75	Silent	SNP	ENST00000234170.5	37	c.2178C>T	CCDS1787.1																																																																																				0.294	CEBPZ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218569.2	NM_005760		4	58	0	0	0	1	0	4	58					A	37444157	G	A	37444157	2	1	435	1	0	0	0	0	0	0	0	1	3204	1103	39	2		2	CEBPZ	2	37444157	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	365958	37444157	205755216	1053	21978											
CEBPZ	10153	broad.mit.edu	37	chr2	37454884	37454884	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttcacacctgttaaaagggcGctaagcatttttgattcaac	12	13	7	9	1	2	1	2	1	0	0	2	1	2	1	1	1	2	3	1	1	4	6			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:37454884G>A	ENST00000234170.5	-	2	1597	c.1452C>T	c.(1450-1452)agC>agT	p.S484S		NM_005760.2	NP_005751.2	Q03701	CEBPZ_HUMAN	CCAAT/enhancer binding protein (C/EBP), zeta	484					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			breast(3)|endometrium(2)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28		all_hematologic(82;0.21)				TTAAAAGGGCGCTAAGCATTT	0.368																																						ENST00000234170.5																			0				breast(3)|endometrium(2)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28						c.(1450-1452)agC>agT		CCAAT/enhancer binding protein (C/EBP), zeta							67	65	65					2																	37454884		2203	4300	6503	SO:0001819	synonymous_variant	10153				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding	g.chr2:37454884G>A	M37197	CCDS1787.1	2p22.3	2008-09-03	2008-09-03		ENSG00000115816	ENSG00000115816			24218	protein-coding gene	gene with protein product		612828				2247079, 12534345	Standard	NM_005760		Approved	CBF2, CTF2	uc002rpz.3	Q03701	OTTHUMG00000100960	ENST00000234170.5:c.1452C>T	2.37:g.37454884G>A							p.S484S	NM_005760.2	NP_005751.2	Q03701	CEBPZ_HUMAN			2	1597	-		all_hematologic(82;0.21)	484					Q8NE75	Silent	SNP	ENST00000234170.5	37	c.1452C>T	CCDS1787.1																																																																																				0.368	CEBPZ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218569.2	NM_005760		26	45	0	0	0	1	0	26	45					A	37454884	G	A	37454884	2	1	435	1	0	0	0	0	0	0	0	1	3204	1078	38	1		1	CEBPZ	2	37454884	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	10727	37454884	205744489	1054	21979											
QPCT	25797	broad.mit.edu	37	chr2	37599550	37599550	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggatcactctttggaggggcGgtatttccagaattacagtt	9	13	12	7	1	2	1	1	0	1	1	3	3	3	3	1	5	1	2	1	5	3	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:37599550G>A	ENST00000338415.3	+	6	1033	c.875G>A	c.(874-876)cGg>cAg	p.R292Q	QPCT_ENST00000537448.1_Missense_Mutation_p.R243Q	NM_012413.3	NP_036545.1	Q16769	QPCT_HUMAN	glutaminyl-peptide cyclotransferase	292					cellular protein modification process (GO:0006464)|peptidyl-pyroglutamic acid biosynthetic process, using glutaminyl-peptide cyclotransferase (GO:0017186)	extracellular vesicular exosome (GO:0070062)	glutaminyl-peptide cyclotransferase activity (GO:0016603)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)|stomach(2)	17		Ovarian(717;0.051)|all_hematologic(82;0.21)				TTGGAGGGGCGGTATTTCCAG	0.368																																						ENST00000338415.3																			0				central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)|stomach(2)	17						c.(874-876)cGg>cAg		glutaminyl-peptide cyclotransferase							195	191	192					2																	37599550		2203	4300	6503	SO:0001583	missense	25797				peptidyl-pyroglutamic acid biosynthetic process, using glutaminyl-peptide cyclotransferase|proteolysis	extracellular region	acyltransferase activity|glutaminyl-peptide cyclotransferase activity|peptidase activity|zinc ion binding	g.chr2:37599550G>A	X71125	CCDS1790.1	2p22	2008-07-31	2008-07-31		ENSG00000115828	ENSG00000115828	2.3.2.5		9753	protein-coding gene	gene with protein product	"glutaminyl cyclase"	607065				7999256	Standard	NM_012413		Approved	QC, GCT	uc002rqg.3	Q16769	OTTHUMG00000100963	ENST00000338415.3:c.875G>A	2.37:g.37599550G>A	ENSP00000344829:p.Arg292Gln					QPCT_ENST00000537448.1_Missense_Mutation_p.R243Q	p.R292Q	NM_012413.3	NP_036545.1	Q16769	QPCT_HUMAN			6	1033	+		Ovarian(717;0.051)|all_hematologic(82;0.21)	292					Q16770|Q3KRG6|Q53TR4	Missense_Mutation	SNP	ENST00000338415.3	37	c.875G>A	CCDS1790.1	.	.	.	.	.	.	.	.	.	.	G	3.718	-0.058062	0.07317	.	.	ENSG00000115828	ENST00000338415;ENST00000404976;ENST00000537448;ENST00000444022	T;T;T;T	0.46063	0.88;0.88;0.88;0.88	5.42	-10.8	0.00216	Peptidase M28 (1);	1.029980	0.07645	N	0.931015	T	0.13713	0.0332	N	0.04373	-0.215	0.09310	N	1	B;B	0.18610	0.029;0.02	B;B	0.04013	0.0;0.001	T	0.23154	-1.0196	10	0.07813	T	0.8	-7.6531	10.1924	0.43035	0.2595:0.4096:0.3309:0.0	.	243;292	Q16769-2;Q16769	.;QPCT_HUMAN	Q	292;243;243;57	ENSP00000344829:R292Q;ENSP00000385391:R243Q;ENSP00000441606:R243Q;ENSP00000389227:R57Q	ENSP00000344829:R292Q	R	+	2	0	QPCT	37453054	0.220000	0.23631	0.001000	0.08648	0.589000	0.36550	-0.170000	0.09897	-2.307000	0.00653	-0.290000	0.09829	CGG		0.368	QPCT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218572.2			64	96	0	0	0	1	0	64	96					A	37599550	G	A	37599550	3	1	435	1	0	0	0	0	1	0	0	0	12874	1116	39	2	897	2	QPCT	2	37599550	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	144666	37599550	205599823	1055	21980											
ATL2	64225	broad.mit.edu	37	chr2	38525431	38525431	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	agacagctatagagtttaggCcaatgaagccagtcagtcct	13	9	10	9	0	1	3	1	1	0	2	2	3	2	3	3	1	2	2	3	1	5	4	rs114096962		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:38525431C>T	ENST00000378954.4	-	12	1488	c.1487G>A	c.(1486-1488)gGc>gAc	p.G496D	ATL2_ENST00000419554.2_Missense_Mutation_p.G496D|ATL2_ENST00000452935.2_Missense_Mutation_p.G478D|ATL2_ENST00000332337.4_Missense_Mutation_p.G478D|ATL2_ENST00000402054.1_Missense_Mutation_p.G325D|ATL2_ENST00000546051.1_Missense_Mutation_p.G325D|ATL2_ENST00000539122.1_Missense_Mutation_p.G325D|ATL2_ENST00000406122.1_Missense_Mutation_p.G325D	NM_001135673.1|NM_022374.2	NP_001129145.1|NP_071769.2	Q8NHH9	ATLA2_HUMAN	atlastin GTPase 2	496					endoplasmic reticulum organization (GO:0007029)|Golgi organization (GO:0007030)|GTP catabolic process (GO:0006184)|protein homooligomerization (GO:0051260)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	22						AGAGTTTAGGCCAATGAAGCC	0.418																																						ENST00000378954.4																			0				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	22						c.(1486-1488)gGc>gAc		atlastin GTPase 2							135	116	123					2																	38525431		2203	4300	6503	SO:0001583	missense	64225				endoplasmic reticulum organization|Golgi organization|protein homooligomerization	endoplasmic reticulum membrane|integral to membrane	GTP binding|GTPase activity|identical protein binding	g.chr2:38525431C>T		CCDS1795.1, CCDS46260.1	2p22.3	2008-09-17	2008-09-17	2008-09-17	ENSG00000119787	ENSG00000119787			24047	protein-coding gene	gene with protein product		609368	"ADP-ribosylation factor-like 6 interacting protein 2"	ARL6IP2		10508919, 18270207	Standard	NM_022374		Approved		uc002rqq.3	Q8NHH9	OTTHUMG00000102074	ENST00000378954.4:c.1487G>A	2.37:g.38525431C>T	ENSP00000368237:p.Gly496Asp					ATL2_ENST00000539122.1_Missense_Mutation_p.G325D|ATL2_ENST00000406122.1_Missense_Mutation_p.G325D|ATL2_ENST00000402054.1_Missense_Mutation_p.G325D|ATL2_ENST00000419554.2_Missense_Mutation_p.G496D|ATL2_ENST00000332337.4_Missense_Mutation_p.G478D|ATL2_ENST00000452935.2_Missense_Mutation_p.G478D|ATL2_ENST00000546051.1_Missense_Mutation_p.G325D	p.G496D	NM_001135673.1|NM_022374.2	NP_001129145.1|NP_071769.2	Q8NHH9	ATLA2_HUMAN			12	1488	-			496					B7Z1X2|B7Z7X8|Q4ZG30|Q7Z630|Q8NHH8|Q9H5M7	Missense_Mutation	SNP	ENST00000378954.4	37	c.1487G>A	CCDS46260.1	.	.	.	.	.	.	.	.	.	.	C	31	5.087700	0.94100	.	.	ENSG00000119787	ENST00000378954;ENST00000406122;ENST00000402054;ENST00000539122;ENST00000332337;ENST00000419554;ENST00000452935;ENST00000546051	D;D;D;D;D;D;D;D	0.93076	-3.16;-3.16;-3.16;-3.16;-3.16;-3.16;-3.16;-3.16	5.81	5.81	0.92471	.	0.000000	0.85682	D	0.000000	D	0.97349	0.9133	M	0.88906	2.99	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.997;0.998;0.992;0.987	D;D;D;D;D	0.91635	0.999;0.959;0.982;0.969;0.932	D	0.97685	1.0175	10	0.87932	D	0	-10.4682	19.0794	0.93175	0.0:1.0:0.0:0.0	.	325;478;478;496;496	B5MCN0;B7Z7X8;Q8NHH9-4;Q8NHH9-2;Q8NHH9	.;.;.;.;ATLA2_HUMAN	D	496;325;325;325;478;496;478;325	ENSP00000368237:G496D;ENSP00000385446:G325D;ENSP00000384062:G325D;ENSP00000446192:G325D;ENSP00000333393:G478D;ENSP00000415336:G496D;ENSP00000390743:G478D;ENSP00000438938:G325D	ENSP00000333393:G478D	G	-	2	0	ATL2	38378935	1.000000	0.71417	0.999000	0.59377	0.993000	0.82548	7.657000	0.83745	2.746000	0.94184	0.591000	0.81541	GGC		0.418	ATL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219886.2	NM_022374		20	29	0	0	0	1	0	20	29					T	38525431	C	T	38525431	3	4	435	1	0	0	0	0	1	0	0	0	1107	739	26	3	384	3	ATL2	2	38525431	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	925881	38525431	204673942	1056	21981											
DHX57	90957	broad.mit.edu	37	chr2	39046072	39046072	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcagtaattataacttgcacGcacgccttcttttgtactta	10	15	6	10	2	1	0	0	0	1	0	1	0	1	0	1	0	3	5	1	0	5	9			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:39046072G>A	ENST00000295373.6	-	19	3544	c.3418C>T	c.(3418-3420)Cgt>Tgt	p.R1140C		NM_198963.1	NP_945314.1	Q6P158	DHX57_HUMAN	DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57	1140							ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(20)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	62		all_hematologic(82;0.248)				TAACTTGCACGCACGCCTTCT	0.383																																					Melanoma(191;1090 2095 4375 23729 47341)	ENST00000295373.6																			0				NS(2)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(20)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						c.(3418-3420)Cgt>Tgt		DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57							104	99	101					2																	39046072		2203	4300	6503	SO:0001583	missense	90957						ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding|zinc ion binding	g.chr2:39046072G>A	AF070590	CCDS1800.1	2p22.3	2008-02-05			ENSG00000163214	ENSG00000163214		"DEAH-boxes"	20086	protein-coding gene	gene with protein product							Standard	NM_198963		Approved	DDX57	uc002rrf.3	Q6P158	OTTHUMG00000102103	ENST00000295373.6:c.3418C>T	2.37:g.39046072G>A	ENSP00000295373:p.Arg1140Cys						p.R1140C	NM_198963.1	NP_945314.1	Q6P158	DHX57_HUMAN			19	3544	-		all_hematologic(82;0.248)	1140					A2RRC7|Q53SI4|Q6P9G1|Q7Z6H3|Q8NG17|Q96M33	Missense_Mutation	SNP	ENST00000295373.6	37	c.3418C>T	CCDS1800.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.78|18.78	3.696984|3.696984	0.68386|0.68386	.|.	.|.	ENSG00000163214|ENSG00000163214	ENST00000452978|ENST00000295373;ENST00000442331	.|T	.|0.02631	.|4.22	5.07|5.07	5.07|5.07	0.68467|0.68467	.|.	.|0.410282	.|0.21393	.|N	.|0.075275	T|T	0.07683|0.07683	0.0193|0.0193	L|L	0.53249|0.53249	1.67|1.67	0.53005|0.53005	D|D	0.999968|0.999968	.|D;D	.|0.65815	.|0.983;0.995	.|P;P	.|0.48677	.|0.462;0.586	T|T	0.14531|0.14531	-1.0469|-1.0469	5|10	.|0.52906	.|T	.|0.07	.|.	18.8123|18.8123	0.92063|0.92063	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|1140;532	.|Q6P158;Q59G60	.|DHX57_HUMAN;.	V|C	463|1140;31	.|ENSP00000295373:R1140C	.|ENSP00000295373:R1140C	A|R	-|-	2|1	0|0	DHX57|DHX57	38899576|38899576	0.996000|0.996000	0.38824|0.38824	0.375000|0.375000	0.26029|0.26029	0.819000|0.819000	0.46315|0.46315	4.538000|4.538000	0.60650|0.60650	2.520000|2.520000	0.84964|0.84964	0.655000|0.655000	0.94253|0.94253	GCG|CGT		0.383	DHX57-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219940.2	NM_145646		4	82	0	0	0	1	0	4	82					A	39046072	G	A	39046072	3	1	435	1	0	0	0	0	1	0	0	0	4513	1087	38	1	766	1	DHX57	2	39046072	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	520641	39046072	204153301	1057	21982											
DHX57	90957	broad.mit.edu	37	chr2	39050311	39050311	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgctcctaagtctcgtaatcGtatttttgaggcacgaagag	10	13	10	8	3	1	2	0	1	1	1	4	3	2	2	1	1	1	4	1	1	4	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:39050311G>A	ENST00000295373.6	-	17	3241	c.3115C>T	c.(3115-3117)Cga>Tga	p.R1039*		NM_198963.1	NP_945314.1	Q6P158	DHX57_HUMAN	DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57	1039							ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(20)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	62		all_hematologic(82;0.248)				TCTCGTAATCGTATTTTTGAG	0.423																																					Melanoma(191;1090 2095 4375 23729 47341)	ENST00000295373.6																			0				NS(2)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(20)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						c.(3115-3117)Cga>Tga		DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57							97	95	96					2																	39050311		2203	4300	6503	SO:0001587	stop_gained	90957						ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding|zinc ion binding	g.chr2:39050311G>A	AF070590	CCDS1800.1	2p22.3	2008-02-05			ENSG00000163214	ENSG00000163214		"DEAH-boxes"	20086	protein-coding gene	gene with protein product							Standard	NM_198963		Approved	DDX57	uc002rrf.3	Q6P158	OTTHUMG00000102103	ENST00000295373.6:c.3115C>T	2.37:g.39050311G>A	ENSP00000295373:p.Arg1039*						p.R1039*	NM_198963.1	NP_945314.1	Q6P158	DHX57_HUMAN			17	3241	-		all_hematologic(82;0.248)	1039					A2RRC7|Q53SI4|Q6P9G1|Q7Z6H3|Q8NG17|Q96M33	Nonsense_Mutation	SNP	ENST00000295373.6	37	c.3115C>T	CCDS1800.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	38|38	6.905935|6.905935	0.97924|0.97924	.|.	.|.	ENSG00000163214|ENSG00000163214	ENST00000295373|ENST00000452978	.|.	.|.	.|.	5.76|5.76	5.76|5.76	0.90799|0.90799	.|.	0.000000|.	0.44483|.	D|.	0.000447|.	.|T	.|0.80053	.|0.4553	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.77835	.|-0.2440	.|3	0.14252|.	T|.	0.57|.	.|.	19.9759|19.9759	0.97304|0.97304	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	X|M	1039|362	.|.	ENSP00000295373:R1039X|.	R|T	-|-	1|2	2|0	DHX57|DHX57	38903815|38903815	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.998000|0.998000	0.95712|0.95712	9.731000|9.731000	0.98807|0.98807	2.713000|2.713000	0.92767|0.92767	0.655000|0.655000	0.94253|0.94253	CGA|ACG		0.423	DHX57-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219940.2	NM_145646		16	30	0	0	0	1	0	16	30					A	39050311	G	A	39050311	4	1	435	1	0	0	0	0	0	1	0	0	4513	1153	40	1	1077	1	DHX57	2	39050311	Nonsense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	4239	39050311	204149062	1058	21983											
SOS1	6654	broad.mit.edu	37	chr2	39237759	39237759	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agtgaggttggtggtatgtcGaatcattttcagaagattag	11	14	13	3	1	2	3	2	1	0	2	3	4	2	3	0	3	0	2	0	3	4	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:39237759G>A	ENST00000426016.1	-	16	2562	c.2476C>T	c.(2476-2478)Cga>Tga	p.R826*	SOS1_ENST00000395038.2_Nonsense_Mutation_p.R826*|SOS1_ENST00000402219.2_Nonsense_Mutation_p.R826*			Q07889	SOS1_HUMAN	son of sevenless homolog 1 (Drosophila)	826	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of epidermal growth factor receptor signaling pathway (GO:0045742)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|Ras protein signal transduction (GO:0007265)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	DNA binding (GO:0003677)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|Rho GTPase activator activity (GO:0005100)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			autonomic_ganglia(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(29)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	75		all_hematologic(82;0.21)				GTGGTATGTCGAATCATTTTC	0.338									Noonan syndrome																													ENST00000426016.1																			0				autonomic_ganglia(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(29)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	75						c.(2476-2478)Cga>Tga		son of sevenless homolog 1 (Drosophila)							142	134	137					2																	39237759		2203	4300	6503	SO:0001587	stop_gained	6654	Noonan syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome	apoptosis|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	cytosol	DNA binding|protein binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	g.chr2:39237759G>A	L13857	CCDS1802.1	2p21	2014-09-17	2002-11-05		ENSG00000115904	ENSG00000115904		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	11187	protein-coding gene	gene with protein product		182530	"gingival fibromatosis, hereditary, 1"	GINGF		8276400, 10995566	Standard	NM_005633		Approved	HGF, GF1	uc002rrk.4	Q07889	OTTHUMG00000102109	ENST00000426016.1:c.2476C>T	2.37:g.39237759G>A	ENSP00000387784:p.Arg826*					SOS1_ENST00000395038.2_Nonsense_Mutation_p.R826*|SOS1_ENST00000402219.2_Nonsense_Mutation_p.R826*	p.R826*			Q07889	SOS1_HUMAN			16	2562	-		all_hematologic(82;0.21)	826			Ras-GEF.		A8K2G3|B4DXG2	Nonsense_Mutation	SNP	ENST00000426016.1	37	c.2476C>T	CCDS1802.1	.	.	.	.	.	.	.	.	.	.	G	38	7.080402	0.98048	.	.	ENSG00000115904	ENST00000426016;ENST00000402219;ENST00000543698;ENST00000395038;ENST00000263879	.	.	.	5.61	3.66	0.41972	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.4071	0.55445	0.0:0.0:0.4739:0.5261	.	.	.	.	X	826;826;558;826;826	.	ENSP00000263879:R826X	R	-	1	2	SOS1	39091263	0.992000	0.36948	1.000000	0.80357	0.893000	0.52053	1.662000	0.37418	1.317000	0.45149	0.549000	0.68633	CGA		0.338	SOS1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219948.3	NM_005633		21	34	0	0	0	1	0	21	34					A	39237759	G	A	39237759	4	1	435	1	0	0	0	0	0	1	0	0	14936	1066	37	2	1561	2	SOS1	2	39237759	Nonsense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	187448	39237759	203961614	1059	21984											
SOS1	6654	broad.mit.edu	37	chr2	39250102	39250102	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ataaaaaacttttctttaagAcgatattctgcattgctagc	14	15	5	7	1	2	1	0	0	2	1	2	2	2	1	0	0	4	2	0	0	6	9			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:39250102A>G	ENST00000426016.1	-	11	1553	c.1467T>C	c.(1465-1467)cgT>cgC	p.R489R	SOS1_ENST00000472480.1_5'UTR|SOS1_ENST00000395038.2_Silent_p.R489R|SOS1_ENST00000402219.2_Silent_p.R489R			Q07889	SOS1_HUMAN	son of sevenless homolog 1 (Drosophila)	489	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of epidermal growth factor receptor signaling pathway (GO:0045742)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|Ras protein signal transduction (GO:0007265)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	DNA binding (GO:0003677)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|Rho GTPase activator activity (GO:0005100)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			autonomic_ganglia(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(29)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	75		all_hematologic(82;0.21)				TTTCTTTAAGACGATATTCTG	0.318									Noonan syndrome																													ENST00000426016.1																			0				autonomic_ganglia(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(29)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	75						c.(1465-1467)cgT>cgC		son of sevenless homolog 1 (Drosophila)							82	82	82					2																	39250102		2203	4300	6503	SO:0001819	synonymous_variant	6654	Noonan syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome	apoptosis|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	cytosol	DNA binding|protein binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	g.chr2:39250102A>G	L13857	CCDS1802.1	2p21	2014-09-17	2002-11-05		ENSG00000115904	ENSG00000115904		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	11187	protein-coding gene	gene with protein product		182530	"gingival fibromatosis, hereditary, 1"	GINGF		8276400, 10995566	Standard	NM_005633		Approved	HGF, GF1	uc002rrk.4	Q07889	OTTHUMG00000102109	ENST00000426016.1:c.1467T>C	2.37:g.39250102A>G						SOS1_ENST00000395038.2_Silent_p.R489R|SOS1_ENST00000472480.1_5'UTR|SOS1_ENST00000402219.2_Silent_p.R489R	p.R489R			Q07889	SOS1_HUMAN			11	1553	-		all_hematologic(82;0.21)	489			PH.		A8K2G3|B4DXG2	Silent	SNP	ENST00000426016.1	37	c.1467T>C	CCDS1802.1																																																																																				0.318	SOS1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219948.3	NM_005633		15	50	0	0	0	1	0	15	50					G	39250102	A	G	39250102	2	3	435	1	0	0	0	0	0	0	0	1	14936	262	10	4		4	SOS1	2	39250102	Silent	SNP	A	TCGA-XK-AAIW-01A-11D-A41K-08	12343	39250102	203949271	1060	21985											
SOS1	6654	broad.mit.edu	37	chr2	39250215	39250215	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcatgtttggctcctacacGtgtaagagttccttccatta	8	15	7	11	1	1	1	1	0	0	1	4	1	4	1	3	1	1	4	3	1	3	6			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:39250215G>A	ENST00000426016.1	-	11	1440	c.1354C>T	c.(1354-1356)Cgt>Tgt	p.R452C	SOS1_ENST00000472480.1_5'UTR|SOS1_ENST00000395038.2_Missense_Mutation_p.R452C|SOS1_ENST00000402219.2_Missense_Mutation_p.R452C			Q07889	SOS1_HUMAN	son of sevenless homolog 1 (Drosophila)	452	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of epidermal growth factor receptor signaling pathway (GO:0045742)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|Ras protein signal transduction (GO:0007265)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	DNA binding (GO:0003677)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|Rho GTPase activator activity (GO:0005100)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			autonomic_ganglia(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(29)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	75		all_hematologic(82;0.21)				GCTCCTACACGTGTAAGAGTT	0.388									Noonan syndrome																													ENST00000426016.1																			0				autonomic_ganglia(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(29)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	75						c.(1354-1356)Cgt>Tgt		son of sevenless homolog 1 (Drosophila)							120	112	115					2																	39250215		2203	4300	6503	SO:0001583	missense	6654	Noonan syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome	apoptosis|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	cytosol	DNA binding|protein binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	g.chr2:39250215G>A	L13857	CCDS1802.1	2p21	2014-09-17	2002-11-05		ENSG00000115904	ENSG00000115904		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	11187	protein-coding gene	gene with protein product		182530	"gingival fibromatosis, hereditary, 1"	GINGF		8276400, 10995566	Standard	NM_005633		Approved	HGF, GF1	uc002rrk.4	Q07889	OTTHUMG00000102109	ENST00000426016.1:c.1354C>T	2.37:g.39250215G>A	ENSP00000387784:p.Arg452Cys					SOS1_ENST00000395038.2_Missense_Mutation_p.R452C|SOS1_ENST00000472480.1_5'UTR|SOS1_ENST00000402219.2_Missense_Mutation_p.R452C	p.R452C			Q07889	SOS1_HUMAN			11	1440	-		all_hematologic(82;0.21)	452			PH.		A8K2G3|B4DXG2	Missense_Mutation	SNP	ENST00000426016.1	37	c.1354C>T	CCDS1802.1	.	.	.	.	.	.	.	.	.	.	G	19.10	3.762532	0.69763	.	.	ENSG00000115904	ENST00000426016;ENST00000402219;ENST00000543698;ENST00000395038;ENST00000263879	T;T;T	0.76316	-1.01;-1.01;-1.01	5.52	4.65	0.58169	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.050854	0.85682	N	0.000000	T	0.78792	0.4339	M	0.62723	1.935	0.80722	D	1	P;P	0.47253	0.745;0.892	B;P	0.45794	0.146;0.493	T	0.81812	-0.0761	10	0.87932	D	0	.	14.513	0.67800	0.0708:0.0:0.9292:0.0	.	184;452	F5GX06;Q07889	.;SOS1_HUMAN	C	452;452;184;452;452	ENSP00000387784:R452C;ENSP00000384675:R452C;ENSP00000378479:R452C	ENSP00000263879:R452C	R	-	1	0	SOS1	39103719	1.000000	0.71417	0.999000	0.59377	0.977000	0.68977	7.843000	0.86859	1.471000	0.48121	0.557000	0.71058	CGT		0.388	SOS1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219948.3	NM_005633		37	47	0	0	0	1	0	37	47					A	39250215	G	A	39250215	3	1	435	1	0	0	0	0	1	0	0	0	14936	1145	40	1	2703	1	SOS1	2	39250215	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	113	39250215	203949158	1061	21986											
THUMPD2	80745	broad.mit.edu	37	chr2	39964026	39964026	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tggcttcgaatgaagttgacGctgtcttgaatgcaccagtt	9	13	11	8	2	1	3	0	3	1	0	2	4	1	3	1	1	1	5	1	1	3	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:39964026G>A	ENST00000505747.1	-	10	1388	c.1361C>T	c.(1360-1362)gCg>gTg	p.A454V	THUMPD2_ENST00000260619.6_Missense_Mutation_p.A424V	NM_025264.4	NP_079540.2	Q9BTF0	THUM2_HUMAN	THUMP domain containing 2	454							methyltransferase activity (GO:0008168)|RNA binding (GO:0003723)			endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|skin(1)	17		all_hematologic(82;0.248)				TGAAGTTGACGCTGTCTTGAA	0.423																																						ENST00000505747.1																			0				endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|skin(1)	17						c.(1360-1362)gCg>gTg		THUMP domain containing 2							244	236	239					2																	39964026		2203	4300	6503	SO:0001583	missense	80745						methyltransferase activity	g.chr2:39964026G>A	AF380576	CCDS1805.1, CCDS1805.2	2p22.2	2004-06-04	2004-06-04	2004-06-04	ENSG00000138050	ENSG00000138050			14890	protein-coding gene	gene with protein product		611751	"chromosome 2 open reading frame 8"	C2orf8		12063391	Standard	NM_025264		Approved	MGC2454	uc002rru.2	Q9BTF0	OTTHUMG00000102149	ENST00000505747.1:c.1361C>T	2.37:g.39964026G>A	ENSP00000423933:p.Ala454Val					THUMPD2_ENST00000260619.6_Missense_Mutation_p.A424V	p.A454V	NM_025264.4	NP_079540.2	Q9BTF0	THUM2_HUMAN			10	1388	-		all_hematologic(82;0.248)	454					A8K7I7|Q53TT8|Q53TV0	Missense_Mutation	SNP	ENST00000505747.1	37	c.1361C>T	CCDS1805.2	.	.	.	.	.	.	.	.	.	.	g	1.197	-0.633667	0.03584	.	.	ENSG00000138050	ENST00000505747;ENST00000260619	.	.	.	5.63	-6.51	0.01878	.	1.301660	0.05221	N	0.508596	T	0.15782	0.0380	N	0.11201	0.11	0.09310	N	0.999998	B;B	0.06786	0.001;0.0	B;B	0.04013	0.001;0.0	T	0.20338	-1.0278	8	.	.	.	.	6.6011	0.22701	0.2655:0.0:0.4715:0.263	.	345;454	B4DP37;Q9BTF0	.;THUM2_HUMAN	V	454;424	.	.	A	-	2	0	THUMPD2	39817530	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.970000	0.03810	-1.304000	0.02329	-1.814000	0.00607	GCG		0.423	THUMPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219991.2	NM_025264		16	138	0	0	0	1	0	16	138					A	39964026	G	A	39964026	3	1	435	1	0	0	0	0	1	0	0	0	15880	1087	38	1	154	1	THUMPD2	2	39964026	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	713811	39964026	203235347	1062	21987											
SLC8A1	6546	broad.mit.edu	37	chr2	40342635	40342635	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gaactgttccccattggctgCgtggtagatggcagcgatgg	7	10	15	9	2	0	1	0	0	0	1	1	3	1	1	2	4	3	4	2	4	2	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:40342635C>T	ENST00000403092.1	-	11	2713	c.2680G>A	c.(2680-2682)Gca>Aca	p.A894T	SLC8A1-AS1_ENST00000601679.1_RNA|SLC8A1_ENST00000406391.2_Missense_Mutation_p.A858T|SLC8A1_ENST00000402441.1_Missense_Mutation_p.A858T|SLC8A1_ENST00000332839.4_Missense_Mutation_p.A894T|SLC8A1_ENST00000542756.1_Missense_Mutation_p.A889T|SLC8A1-AS1_ENST00000599740.1_RNA|SLC8A1-AS1_ENST00000597385.1_RNA|SLC8A1_ENST00000408028.2_Missense_Mutation_p.A886T|SLC8A1_ENST00000406785.2_Missense_Mutation_p.A858T|SLC8A1-AS1_ENST00000597170.1_RNA|SLC8A1-AS1_ENST00000593878.1_RNA|SLC8A1-AS1_ENST00000444629.1_RNA|SLC8A1-AS1_ENST00000599956.1_RNA|SLC8A1-AS1_ENST00000599268.1_RNA|SLC8A1-AS1_ENST00000593848.1_RNA|SLC8A1-AS1_ENST00000435515.1_RNA|SLC8A1_ENST00000405901.3_Missense_Mutation_p.A889T|SLC8A1_ENST00000405269.1_Missense_Mutation_p.A858T|SLC8A1_ENST00000542024.1_Missense_Mutation_p.A858T|SLC8A1-AS1_ENST00000598247.1_RNA|SLC8A1-AS1_ENST00000596532.1_RNA			P32418	NAC1_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 1	894					blood coagulation (GO:0007596)|calcium ion export (GO:1901660)|calcium ion homeostasis (GO:0055074)|calcium ion import (GO:0070509)|calcium ion transport into cytosol (GO:0060402)|cardiac muscle cell development (GO:0055013)|cardiac muscle contraction (GO:0060048)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular response to caffeine (GO:0071313)|cellular response to reactive oxygen species (GO:0034614)|cellular sodium ion homeostasis (GO:0006883)|cytosolic calcium ion transport (GO:0060401)|embryonic heart tube development (GO:0035050)|embryonic placenta development (GO:0001892)|heart morphogenesis (GO:0003007)|ion transport (GO:0006811)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|muscle contraction (GO:0006936)|muscle fiber development (GO:0048747)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|post-embryonic development (GO:0009791)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|relaxation of cardiac muscle (GO:0055119)|relaxation of smooth muscle (GO:0044557)|sodium ion export (GO:0071436)|sodium ion import (GO:0097369)|transmembrane transport (GO:0055085)|vascular smooth muscle contraction (GO:0014829)	basolateral plasma membrane (GO:0016323)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|calcium:sodium antiporter activity (GO:0005432)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	CCATTGGCTGCGTGGTAGATG	0.542																																						ENST00000406785.1																			0				NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100						c.(2572-2574)Gca>Aca		solute carrier family 8 (sodium/calcium exchanger), member 1	Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)						101	78	86					2																	40342635		2203	4300	6503	SO:0001583	missense	6546				cell communication|muscle contraction|platelet activation	integral to plasma membrane	calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding	g.chr2:40342635C>T		CCDS1806.1, CCDS46264.1, CCDS46265.1, CCDS59430.1	2p22.1	2013-07-15			ENSG00000183023	ENSG00000183023		"Solute carriers"	11068	protein-coding gene	gene with protein product	"Na+/Ca++ exchanger"	182305		NCX1		1559714	Standard	NM_021097		Approved		uc002rrx.3	P32418	OTTHUMG00000102183	ENST00000403092.1:c.2680G>A	2.37:g.40342635C>T	ENSP00000384763:p.Ala894Thr					SLC8A1-AS1_ENST00000598247.1_RNA|SLC8A1-AS1_ENST00000597170.1_RNA|SLC8A1-AS1_ENST00000596532.1_RNA|SLC8A1-AS1_ENST00000593848.1_RNA|SLC8A1-AS1_ENST00000593878.1_RNA|SLC8A1_ENST00000542756.1_Missense_Mutation_p.A889T|SLC8A1_ENST00000542024.1_Missense_Mutation_p.A858T|SLC8A1_ENST00000406391.2_Missense_Mutation_p.A858T|SLC8A1-AS1_ENST00000444629.1_RNA|SLC8A1-AS1_ENST00000597385.1_RNA|SLC8A1-AS1_ENST00000435515.1_RNA|SLC8A1_ENST00000405269.1_Missense_Mutation_p.A858T|SLC8A1_ENST00000402441.1_Missense_Mutation_p.A858T|SLC8A1_ENST00000408028.2_Missense_Mutation_p.A886T|SLC8A1_ENST00000332839.4_Missense_Mutation_p.A894T|SLC8A1_ENST00000403092.1_Missense_Mutation_p.A894T|SLC8A1-AS1_ENST00000599956.1_RNA|SLC8A1-AS1_ENST00000599740.1_RNA|SLC8A1-AS1_ENST00000599268.1_RNA|SLC8A1-AS1_ENST00000601679.1_RNA|SLC8A1_ENST00000405901.3_Missense_Mutation_p.A889T	p.A858T			P32418	NAC1_HUMAN			8	2761	-			894					A8K6N1|D6W595|O95849|Q4QQG6|Q587I6|Q59GN4|Q9UBL8|Q9UD55|Q9UDN1|Q9UDN2|Q9UKX6	Missense_Mutation	SNP	ENST00000403092.1	37	c.2572G>A	CCDS1806.1	.	.	.	.	.	.	.	.	.	.	C	13.27	2.185693	0.38609	.	.	ENSG00000183023	ENST00000406785;ENST00000378715;ENST00000542756;ENST00000403092;ENST00000405901;ENST00000402441;ENST00000405269;ENST00000332839;ENST00000408028;ENST00000535962;ENST00000406391;ENST00000542024	T;T;T;T;T;T;T;T;T;T	0.62941	-0.01;-0.01;-0.01;-0.01;-0.01;-0.01;-0.01;-0.01;-0.01;-0.01	5.94	5.94	0.96194	Sodium/calcium exchanger membrane region (1);	0.242680	0.41823	D	0.000803	T	0.77301	0.4110	M	0.69823	2.125	0.21256	N	0.999744	D;P;P;P	0.63046	0.992;0.945;0.857;0.872	D;B;B;B	0.64042	0.921;0.311;0.197;0.293	T	0.70132	-0.4956	10	0.45353	T	0.12	.	17.8596	0.88777	0.0:1.0:0.0:0.0	.	858;881;889;894	P32418-2;P32418-3;F6VPY9;P32418	.;.;.;NAC1_HUMAN	T	858;894;889;894;889;858;858;894;886;881;858;858	ENSP00000383886:A858T;ENSP00000440727:A889T;ENSP00000384763:A894T;ENSP00000385678:A889T;ENSP00000385188:A858T;ENSP00000385535:A858T;ENSP00000332931:A894T;ENSP00000384908:A886T;ENSP00000385811:A858T;ENSP00000443515:A858T	ENSP00000332931:A894T	A	-	1	0	SLC8A1	40196139	0.990000	0.36364	0.654000	0.29608	0.955000	0.61496	2.644000	0.46613	2.820000	0.97059	0.650000	0.86243	GCA		0.542	SLC8A1-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326065.1	NM_021097		11	17	0	0	0	1	0	11	17					T	40342635	C	T	40342635	3	4	435	1	0	0	0	0	1	0	0	0	14706	768	27	1	245	1	SLC8A1	2	40342635	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	378609	40342635	202856738	1063	21988											
SLC8A1	6546	broad.mit.edu	37	chr2	40657409	40657409	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtgaaagacttaatcgccgCatgttgtacatgacacttcc	11	11	9	10	2	0	3	0	2	0	1	2	3	1	3	2	1	1	3	2	1	3	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:40657409C>A	ENST00000403092.1	-	2	45	c.12G>T	c.(10-12)atG>atT	p.M4I	SLC8A1_ENST00000406391.2_Missense_Mutation_p.M4I|SLC8A1_ENST00000402441.1_Missense_Mutation_p.M4I|SLC8A1_ENST00000332839.4_Missense_Mutation_p.M4I|SLC8A1_ENST00000542756.1_Missense_Mutation_p.M4I|SLC8A1_ENST00000408028.2_Missense_Mutation_p.M4I|SLC8A1_ENST00000406785.2_Missense_Mutation_p.M4I|SLC8A1_ENST00000405901.3_Missense_Mutation_p.M4I|SLC8A1_ENST00000405269.1_Missense_Mutation_p.M4I|SLC8A1_ENST00000542024.1_Missense_Mutation_p.M4I			P32418	NAC1_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 1	4					blood coagulation (GO:0007596)|calcium ion export (GO:1901660)|calcium ion homeostasis (GO:0055074)|calcium ion import (GO:0070509)|calcium ion transport into cytosol (GO:0060402)|cardiac muscle cell development (GO:0055013)|cardiac muscle contraction (GO:0060048)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular response to caffeine (GO:0071313)|cellular response to reactive oxygen species (GO:0034614)|cellular sodium ion homeostasis (GO:0006883)|cytosolic calcium ion transport (GO:0060401)|embryonic heart tube development (GO:0035050)|embryonic placenta development (GO:0001892)|heart morphogenesis (GO:0003007)|ion transport (GO:0006811)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|muscle contraction (GO:0006936)|muscle fiber development (GO:0048747)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|post-embryonic development (GO:0009791)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|relaxation of cardiac muscle (GO:0055119)|relaxation of smooth muscle (GO:0044557)|sodium ion export (GO:0071436)|sodium ion import (GO:0097369)|transmembrane transport (GO:0055085)|vascular smooth muscle contraction (GO:0014829)	basolateral plasma membrane (GO:0016323)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|calcium:sodium antiporter activity (GO:0005432)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	TTAATCGCCGCATGTTGTACA	0.428																																						ENST00000406785.1																			0				NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100						c.(10-12)atG>atT		solute carrier family 8 (sodium/calcium exchanger), member 1	Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)						62	58	59					2																	40657409		2203	4300	6503	SO:0001583	missense	6546				cell communication|muscle contraction|platelet activation	integral to plasma membrane	calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding	g.chr2:40657409C>A		CCDS1806.1, CCDS46264.1, CCDS46265.1, CCDS59430.1	2p22.1	2013-07-15			ENSG00000183023	ENSG00000183023		"Solute carriers"	11068	protein-coding gene	gene with protein product	"Na+/Ca++ exchanger"	182305		NCX1		1559714	Standard	NM_021097		Approved		uc002rrx.3	P32418	OTTHUMG00000102183	ENST00000403092.1:c.12G>T	2.37:g.40657409C>A	ENSP00000384763:p.Met4Ile					SLC8A1_ENST00000542756.1_Missense_Mutation_p.M4I|SLC8A1_ENST00000542024.1_Missense_Mutation_p.M4I|SLC8A1_ENST00000406391.2_Missense_Mutation_p.M4I|SLC8A1_ENST00000405269.1_Missense_Mutation_p.M4I|SLC8A1_ENST00000402441.1_Missense_Mutation_p.M4I|SLC8A1_ENST00000408028.2_Missense_Mutation_p.M4I|SLC8A1_ENST00000332839.4_Missense_Mutation_p.M4I|SLC8A1_ENST00000403092.1_Missense_Mutation_p.M4I|SLC8A1_ENST00000405901.3_Missense_Mutation_p.M4I	p.M4I			P32418	NAC1_HUMAN			2	201	-			4					A8K6N1|D6W595|O95849|Q4QQG6|Q587I6|Q59GN4|Q9UBL8|Q9UD55|Q9UDN1|Q9UDN2|Q9UKX6	Missense_Mutation	SNP	ENST00000403092.1	37	c.12G>T	CCDS1806.1	.	.	.	.	.	.	.	.	.	.	C	10.03	1.237799	0.22711	.	.	ENSG00000183023	ENST00000406785;ENST00000378715;ENST00000542756;ENST00000542640;ENST00000403092;ENST00000405901;ENST00000402441;ENST00000405269;ENST00000332839;ENST00000408028;ENST00000535962;ENST00000406391;ENST00000542024;ENST00000455476;ENST00000448531;ENST00000417271	T;T;T;T;T;T;T;T;T;T	0.26067	1.76;1.8;1.8;1.8;1.76;1.76;1.8;1.77;1.76;1.77	5.93	5.93	0.95920	.	0.086699	0.85682	D	0.000000	T	0.44993	0.1320	M	0.75615	2.305	0.50039	D	0.999849	P;B;P;B;P	0.39044	0.656;0.031;0.656;0.187;0.525	P;B;P;B;P	0.48627	0.584;0.187;0.584;0.039;0.48	T	0.30446	-0.9978	10	0.62326	D	0.03	.	17.8301	0.88679	0.0:1.0:0.0:0.0	.	4;4;4;4;4	P32418-4;P32418-2;P32418-3;F6VPY9;P32418	.;.;.;.;NAC1_HUMAN	I	4	ENSP00000383886:M4I;ENSP00000440727:M4I;ENSP00000384763:M4I;ENSP00000385678:M4I;ENSP00000385188:M4I;ENSP00000385535:M4I;ENSP00000332931:M4I;ENSP00000384908:M4I;ENSP00000385811:M4I;ENSP00000443515:M4I	ENSP00000332931:M4I	M	-	3	0	SLC8A1	40510913	1.000000	0.71417	0.953000	0.39169	0.344000	0.29017	5.203000	0.65174	2.814000	0.96858	0.563000	0.77884	ATG		0.428	SLC8A1-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326065.1	NM_021097		17	35	1	0	1.15088e-07	1	1.20771e-07	17	35					A	40657409	C	A	40657409	3	1	435	1	0	0	0	0	1	0	0	0	14706	710	25	5	3057	5	SLC8A1	2	40657409	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	314774	40657409	202541964	1064	21989											
EML4	27436	broad.mit.edu	37	chr2	42472683	42472683	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caagtacttctgatgttcaaGatcgcctgtcagctcttgag	9	13	9	10	1	4	3	2	2	2	1	5	3	4	3	1	0	2	3	1	0	3	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:42472683G>T	ENST00000318522.5	+	2	326	c.64G>T	c.(64-66)Gat>Tat	p.D22Y	EML4_ENST00000401738.3_Missense_Mutation_p.D22Y|EML4_ENST00000482660.1_3'UTR|EML4_ENST00000402711.2_Missense_Mutation_p.D22Y	NM_019063.3	NP_061936	Q9HC35	EMAL4_HUMAN	echinoderm microtubule associated protein like 4	22					microtubule-based process (GO:0007017)|mitotic nuclear division (GO:0007067)|negative regulation of microtubule depolymerization (GO:0007026)	cytoplasm (GO:0005737)|membrane (GO:0016020)|microtubule (GO:0005874)|mitotic spindle (GO:0072686)			EML4/ALK(543)	NS(2)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	12						TGATGTTCAAGATCGCCTGTC	0.368			T	ALK	NSCLC																																	ENST00000318522.5				Dom	yes		2	2p21	27436	T	echinoderm microtubule associated protein like 4			E	ALK		NSCLC	EML4/ALK(543)	0				NS(2)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	12						c.(64-66)Gat>Tat		echinoderm microtubule associated protein like 4							101	88	92					2																	42472683		2203	4300	6503	SO:0001583	missense	27436				microtubule-based process|mitosis	cytoplasm|microtubule	protein binding	g.chr2:42472683G>T	AF177377	CCDS1807.1, CCDS46266.1	2p21	2013-01-10		2002-02-15	ENSG00000143924	ENSG00000143924		"WD repeat domain containing"	1316	protein-coding gene	gene with protein product		607442		C2orf2			Standard	NM_019063		Approved	ROPP120, ELP120	uc002rsi.3	Q9HC35	OTTHUMG00000128603	ENST00000318522.5:c.64G>T	2.37:g.42472683G>T	ENSP00000320663:p.Asp22Tyr					EML4_ENST00000402711.2_Missense_Mutation_p.D22Y|EML4_ENST00000482660.1_3'UTR|EML4_ENST00000401738.3_Missense_Mutation_p.D22Y	p.D22Y	NM_019063.3	NP_061936.2	Q9HC35	EMAL4_HUMAN			2	326	+			22					A6H8Y6|B2RBK3|B2RTW7|B5MCW9|Q3SWW0|Q53R29|Q53TW8|Q6PJ45|Q9NV40	Missense_Mutation	SNP	ENST00000318522.5	37	c.64G>T	CCDS1807.1	.	.	.	.	.	.	.	.	.	.	G	29.2	4.983454	0.93044	.	.	ENSG00000143924	ENST00000318522;ENST00000402711;ENST00000401738	T;T;T	0.63096	0.63;-0.02;0.63	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	T	0.80259	0.4590	M	0.72894	2.215	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.996;0.999;0.997	T	0.80609	-0.1306	10	0.87932	D	0	-19.295	20.3138	0.98647	0.0:0.0:1.0:0.0	.	22;22;22	B5MCW9;Q9HC35;A6P4T4	.;EMAL4_HUMAN;.	Y	22	ENSP00000320663:D22Y;ENSP00000385059:D22Y;ENSP00000384939:D22Y	ENSP00000320663:D22Y	D	+	1	0	EML4	42326187	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.836000	0.92105	2.814000	0.96858	0.585000	0.79938	GAT		0.368	EML4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250463.3	NM_019063		5	47	1	0	0.000602214	1	0.000612743	5	47					T	42472683	G	T	42472683	3	4	435	1	0	0	0	0	1	0	0	0	5099	942	33	5	70	5	EML4	2	42472683	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	1815274	42472683	200726690	1065	21990											
ZFP36L2	678	broad.mit.edu	37	chr2	43452136	43452136	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gactcgaggccgcccgggggCtgatggtggcccgacgggaa	6	4	19	12	5	0	1	0	1	0	0	1	5	0	2	3	6	0	1	3	6	1	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:43452136C>T	ENST00000282388.3	-	2	1100	c.807G>A	c.(805-807)caG>caA	p.Q269Q	THADA_ENST00000330266.7_Intron	NM_006887.4	NP_008818.3	P47974	TISD_HUMAN	ZFP36 ring finger protein-like 2	269					cell proliferation (GO:0008283)|definitive hemopoiesis (GO:0060216)|hemopoiesis (GO:0030097)|mRNA catabolic process (GO:0006402)|negative regulation of stem cell differentiation (GO:2000737)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|regulation of mRNA stability (GO:0043488)|regulation of transcription, DNA-templated (GO:0006355)|somatic stem cell division (GO:0048103)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	AU-rich element binding (GO:0017091)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|mRNA 3'-UTR AU-rich region binding (GO:0035925)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	15		Acute lymphoblastic leukemia(82;0.00323)|all_hematologic(82;0.00824)				CGCCCGGGGGCTGATGGTGGC	0.736																																						ENST00000282388.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	15						c.(805-807)caG>caA		ZFP36 ring finger protein-like 2							13	22	19					2																	43452136		2162	4235	6397	SO:0001819	synonymous_variant	678				cell proliferation	nucleus	DNA binding|RNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr2:43452136C>T	X78992	CCDS1811.1	2p22.3-p21	2012-11-27	2012-11-27	2001-11-23	ENSG00000152518	ENSG00000152518		"RING-type (C3HC4) zinc fingers"	1108	protein-coding gene	gene with protein product		612053	"zinc finger protein 36, C3H type-like 1", "zinc finger protein 36, C3H type-like 2"	BRF2		7835719, 8545129, 14981510, 17172869	Standard	NM_006887		Approved	ERF2, RNF162C, TIS11D	uc002rsv.4	P47974	OTTHUMG00000128642	ENST00000282388.3:c.807G>A	2.37:g.43452136C>T						THADA_ENST00000330266.7_Intron	p.Q269Q	NM_006887.4	NP_008818.3	P47974	TISD_HUMAN			2	1100	-		Acute lymphoblastic leukemia(82;0.00323)|all_hematologic(82;0.00824)	269					Q53TB4|Q9BSJ3	Silent	SNP	ENST00000282388.3	37	c.807G>A	CCDS1811.1																																																																																				0.736	ZFP36L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250513.2	NM_006887		4	10	0	0	0	1	0	4	10					T	43452136	C	T	43452136	2	4	435	1	0	0	0	0	0	0	0	1	17644	796	28	3		3	ZFP36L2	2	43452136	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	979453	43452136	199747237	1066	21991											
ZFP36L2	678	broad.mit.edu	37	chr2	43452332	43452332	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gcggcccataggggcagaagCcgatggtatgaaaggtgcgg	10	5	18	8	3	0	2	0	1	0	1	0	3	0	2	2	6	2	2	2	6	4	2	rs397823004	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:43452332C>T	ENST00000282388.3	-	2	904	c.611G>A	c.(610-612)gGc>gAc	p.G204D	THADA_ENST00000330266.7_Intron	NM_006887.4	NP_008818.3	P47974	TISD_HUMAN	ZFP36 ring finger protein-like 2	204	RNA-binding.				cell proliferation (GO:0008283)|definitive hemopoiesis (GO:0060216)|hemopoiesis (GO:0030097)|mRNA catabolic process (GO:0006402)|negative regulation of stem cell differentiation (GO:2000737)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|regulation of mRNA stability (GO:0043488)|regulation of transcription, DNA-templated (GO:0006355)|somatic stem cell division (GO:0048103)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	AU-rich element binding (GO:0017091)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|mRNA 3'-UTR AU-rich region binding (GO:0035925)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	15		Acute lymphoblastic leukemia(82;0.00323)|all_hematologic(82;0.00824)				GGGGCAGAAGCCGATGGTATG	0.677																																						ENST00000282388.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	15						c.(610-612)gGc>gAc		ZFP36 ring finger protein-like 2							28	27	27					2																	43452332		2203	4300	6503	SO:0001583	missense	678				cell proliferation	nucleus	DNA binding|RNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr2:43452332C>T	X78992	CCDS1811.1	2p22.3-p21	2012-11-27	2012-11-27	2001-11-23	ENSG00000152518	ENSG00000152518		"RING-type (C3HC4) zinc fingers"	1108	protein-coding gene	gene with protein product		612053	"zinc finger protein 36, C3H type-like 1", "zinc finger protein 36, C3H type-like 2"	BRF2		7835719, 8545129, 14981510, 17172869	Standard	NM_006887		Approved	ERF2, RNF162C, TIS11D	uc002rsv.4	P47974	OTTHUMG00000128642	ENST00000282388.3:c.611G>A	2.37:g.43452332C>T	ENSP00000282388:p.Gly204Asp					THADA_ENST00000330266.7_Intron	p.G204D	NM_006887.4	NP_008818.3	P47974	TISD_HUMAN			2	904	-		Acute lymphoblastic leukemia(82;0.00323)|all_hematologic(82;0.00824)	204			RNA-binding.		Q53TB4|Q9BSJ3	Missense_Mutation	SNP	ENST00000282388.3	37	c.611G>A	CCDS1811.1	.	.	.	.	.	.	.	.	.	.	C	17.50	3.406401	0.62399	.	.	ENSG00000152518	ENST00000282388	T	0.76709	-1.04	4.54	4.54	0.55810	Zinc finger, CCCH-type (3);	0.058219	0.64402	D	0.000002	D	0.90256	0.6953	M	0.91459	3.21	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.92778	0.6238	10	0.87932	D	0	-27.1856	16.1272	0.81404	0.0:1.0:0.0:0.0	.	204	P47974	TISD_HUMAN	D	204	ENSP00000282388:G204D	ENSP00000282388:G204D	G	-	2	0	ZFP36L2	43305836	1.000000	0.71417	1.000000	0.80357	0.018000	0.09664	7.355000	0.79434	2.083000	0.62718	0.555000	0.69702	GGC		0.677	ZFP36L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250513.2	NM_006887		8	13	0	0	0	1	0	8	13					T	43452332	C	T	43452332	3	4	435	1	0	0	0	0	1	0	0	0	17644	739	26	3	877	3	ZFP36L2	2	43452332	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	196	43452332	199747041	1067	21992											
THADA	63892	broad.mit.edu	37	chr2	43801572	43801572	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggcaagtaataatcaatcacGtaagatttttgatccaagtt	15	13	7	6	1	2	2	2	1	0	1	3	2	3	2	1	1	0	4	1	1	6	6			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:43801572G>A	ENST00000405006.4	-	11	1983	c.1632C>T	c.(1630-1632)taC>taT	p.Y544Y	THADA_ENST00000403856.1_Silent_p.Y544Y|THADA_ENST00000415080.2_Silent_p.Y254Y|THADA_ENST00000404790.1_Silent_p.Y544Y|THADA_ENST00000330266.7_Silent_p.Y254Y|THADA_ENST00000405975.2_Silent_p.Y544Y|THADA_ENST00000402360.2_Silent_p.Y544Y	NM_001083953.1|NM_001271643.1	NP_001077422.1|NP_001258572.1	Q6YHU6	THADA_HUMAN	thyroid adenoma associated	544										breast(1)|endometrium(9)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	66		Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837)				AATCAATCACGTAAGATTTTT	0.378																																						ENST00000403856.1																			0				breast(1)|endometrium(9)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	66						c.(1630-1632)taC>taT		thyroid adenoma associated							40	38	39					2																	43801572		1813	4079	5892	SO:0001819	synonymous_variant	63892						binding	g.chr2:43801572G>A	AY149629	CCDS46268.1, CCDS62901.1, CCDS62902.1	2p21	2008-02-05			ENSG00000115970	ENSG00000115970			19217	protein-coding gene	gene with protein product		611800				12063398, 11214970	Standard	NM_022065		Approved	FLJ21877, KIAA1767, GITA	uc002rsx.4	Q6YHU6	OTTHUMG00000152398	ENST00000405006.4:c.1632C>T	2.37:g.43801572G>A						THADA_ENST00000402360.2_Silent_p.Y544Y|THADA_ENST00000405006.4_Silent_p.Y544Y|THADA_ENST00000330266.7_Silent_p.Y254Y|THADA_ENST00000415080.2_Silent_p.Y254Y|THADA_ENST00000405975.2_Silent_p.Y544Y|THADA_ENST00000404790.1_Silent_p.Y544Y	p.Y544Y			Q6YHU6	THADA_HUMAN			12	1779	-		Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837)	544					A8K1V8|B7WNS6|Q3KR04|Q53RC6|Q53TB2|Q6YHU2|Q6ZU38|Q8IY32|Q8TAU8|Q96I88|Q9BZF7|Q9C096|Q9H6U0|Q9H6W7	Silent	SNP	ENST00000405006.4	37	c.1632C>T	CCDS46268.1																																																																																				0.378	THADA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326070.3	NM_022065		7	10	0	0	0	1	0	7	10					A	43801572	G	A	43801572	2	1	435	1	0	0	0	0	0	0	0	1	15837	1140	40	1		1	THADA	2	43801572	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	349240	43801572	199397801	1068	21993											
PLEKHH2	130271	broad.mit.edu	37	chr2	43937194	43937194	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcctgatgcttactccacaGacacggagtactcacagcca	11	8	7	15	1	1	2	1	1	0	1	3	3	3	3	3	1	4	2	3	1	2	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:43937194G>T	ENST00000282406.4	+	12	2142	c.2032G>T	c.(2032-2034)Gac>Tac	p.D678Y		NM_172069.3	NP_742066.2	Q8IVE3	PKHH2_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 2	678					negative regulation of actin filament depolymerization (GO:0030835)	cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)	actin binding (GO:0003779)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(24)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	56		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				TTACTCCACAGACACGGAGTA	0.388																																						ENST00000282406.4																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(24)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						c.(2032-2034)Gac>Tac		pleckstrin homology domain containing, family H (with MyTH4 domain) member 2							136	131	133					2																	43937194		2203	4300	6503	SO:0001583	missense	130271					cytoplasm|cytoskeleton|integral to membrane	binding	g.chr2:43937194G>T	AB095948	CCDS1812.1	2p22	2013-01-10			ENSG00000152527	ENSG00000152527		"Pleckstrin homology (PH) domain containing"	30506	protein-coding gene	gene with protein product		612723					Standard	NM_172069		Approved	KIAA2028, PLEKHH1L	uc010yny.2	Q8IVE3	OTTHUMG00000128657	ENST00000282406.4:c.2032G>T	2.37:g.43937194G>T	ENSP00000282406:p.Asp678Tyr						p.D678Y	NM_172069.3	NP_742066.2	Q8IVE3	PKHH2_HUMAN			12	2142	+		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	678					Q5JPJ6|Q6P4Q1|Q8N3Q3	Missense_Mutation	SNP	ENST00000282406.4	37	c.2032G>T	CCDS1812.1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.449470	0.84101	.	.	ENSG00000152527	ENST00000282406	T	0.76448	-1.02	5.23	5.23	0.72850	.	0.051111	0.85682	D	0.000000	D	0.84946	0.5585	L	0.43152	1.355	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.984;0.999;1.0	D	0.86329	0.1697	10	0.72032	D	0.01	-22.3848	18.7989	0.92008	0.0:0.0:1.0:0.0	.	678;115;678	Q8IVE3;Q8IVE3-2;Q8IVE3-3	PKHH2_HUMAN;.;.	Y	678	ENSP00000282406:D678Y	ENSP00000282406:D678Y	D	+	1	0	PLEKHH2	43790698	1.000000	0.71417	0.942000	0.38095	0.992000	0.81027	9.355000	0.97087	2.423000	0.82170	0.563000	0.77884	GAC		0.388	PLEKHH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250537.1	NM_172069		38	58	1	0	2.19358e-23	1	2.44412e-23	38	58					T	43937194	G	T	43937194	3	4	435	1	0	0	0	0	1	0	0	0	12077	942	33	5	2074	5	PLEKHH2	2	43937194	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	135622	43937194	199262179	1069	21994											
PLEKHH2	130271	broad.mit.edu	37	chr2	43992576	43992576	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgaaatcactcttttgatcGccagttacataaacaacttc	13	14	4	10	1	2	2	1	2	1	0	4	2	2	2	1	0	3	1	1	0	5	6	rs549729714		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:43992576G>A	ENST00000282406.4	+	30	4431	c.4321G>A	c.(4321-4323)Gcc>Acc	p.A1441T		NM_172069.3	NP_742066.2	Q8IVE3	PKHH2_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 2	1441	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				negative regulation of actin filament depolymerization (GO:0030835)	cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)	actin binding (GO:0003779)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(24)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	56		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				TCTTTTGATCGCCAGTTACAT	0.453																																						ENST00000282406.4																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(24)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						c.(4321-4323)Gcc>Acc		pleckstrin homology domain containing, family H (with MyTH4 domain) member 2							81	84	83					2																	43992576		2203	4300	6503	SO:0001583	missense	130271					cytoplasm|cytoskeleton|integral to membrane	binding	g.chr2:43992576G>A	AB095948	CCDS1812.1	2p22	2013-01-10			ENSG00000152527	ENSG00000152527		"Pleckstrin homology (PH) domain containing"	30506	protein-coding gene	gene with protein product		612723					Standard	NM_172069		Approved	KIAA2028, PLEKHH1L	uc010yny.2	Q8IVE3	OTTHUMG00000128657	ENST00000282406.4:c.4321G>A	2.37:g.43992576G>A	ENSP00000282406:p.Ala1441Thr						p.A1441T	NM_172069.3	NP_742066.2	Q8IVE3	PKHH2_HUMAN			30	4431	+		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	1441			FERM.		Q5JPJ6|Q6P4Q1|Q8N3Q3	Missense_Mutation	SNP	ENST00000282406.4	37	c.4321G>A	CCDS1812.1	.	.	.	.	.	.	.	.	.	.	G	26.8	4.769964	0.90020	.	.	ENSG00000152527	ENST00000282406	T	0.76839	-1.05	5.59	5.59	0.84812	FERM domain (1);	0.051564	0.85682	D	0.000000	D	0.88687	0.6504	M	0.82517	2.595	0.80722	D	1	D	0.89917	1.0	D	0.66351	0.943	D	0.88180	0.2870	10	0.44086	T	0.13	-18.1327	19.5891	0.95501	0.0:0.0:1.0:0.0	.	1441	Q8IVE3	PKHH2_HUMAN	T	1441	ENSP00000282406:A1441T	ENSP00000282406:A1441T	A	+	1	0	PLEKHH2	43846080	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.579000	0.74036	2.625000	0.88918	0.467000	0.42956	GCC		0.453	PLEKHH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250537.1	NM_172069		6	49	0	0	0	1	0	6	49					A	43992576	G	A	43992576	3	1	435	1	0	0	0	0	1	0	0	0	12077	1087	38	1	4435	1	PLEKHH2	2	43992576	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	55382	43992576	199206797	1070	21995											
DYNC2LI1	51626	broad.mit.edu	37	chr2	44028050	44028050	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagttggcatttggcattgAcaaaaggtactgctaagata	13	11	10	7	0	0	2	0	1	0	1	0	2	0	2	1	3	2	5	1	3	5	6			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:44028050A>G	ENST00000260605.8	+	9	825	c.725A>G	c.(724-726)gAc>gGc	p.D242G	DYNC2LI1_ENST00000443170.3_Missense_Mutation_p.D116G|DYNC2LI1_ENST00000605786.1_Missense_Mutation_p.D243G|DYNC2LI1_ENST00000489222.2_3'UTR	NM_001193464.1|NM_016008.3	NP_001180393.1|NP_057092.2	Q8TCX1	DC2L1_HUMAN	dynein, cytoplasmic 2, light intermediate chain 1	242					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cilium assembly (GO:0042384)|determination of left/right symmetry (GO:0007368)	apical part of cell (GO:0045177)|axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|cytosol (GO:0005829)|intraciliary transport particle (GO:0030990)|microtubule (GO:0005874)|motile primary cilium (GO:0031512)|primary cilium (GO:0072372)	motor activity (GO:0003774)			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|skin(1)	26		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				TTTGGCATTGACAAAAGGTAC	0.318																																						ENST00000260605.8																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|skin(1)	26						c.(724-726)gAc>gGc		dynein, cytoplasmic 2, light intermediate chain 1							87	93	91					2																	44028050		2203	4298	6501	SO:0001583	missense	51626					apical part of cell|axonemal dynein complex|cilium axoneme|cytoplasm|microtubule|motile primary cilium	motor activity	g.chr2:44028050A>G		CCDS1813.1, CCDS46270.1, CCDS62903.1	2p25.1-p24.1	2008-02-05			ENSG00000138036	ENSG00000138036		"Cytoplasmic dyneins"	24595	protein-coding gene	gene with protein product						10810093, 11907264	Standard	NM_016008		Approved	D2LIC, LIC3, CGI-60, DKFZP564A033	uc002rtl.3	Q8TCX1	OTTHUMG00000128656	ENST00000260605.8:c.725A>G	2.37:g.44028050A>G	ENSP00000260605:p.Asp242Gly					DYNC2LI1_ENST00000489222.2_3'UTR|DYNC2LI1_ENST00000605786.1_Missense_Mutation_p.D243G|DYNC2LI1_ENST00000443170.3_Missense_Mutation_p.D116G	p.D242G	NM_001193464.1|NM_016008.3	NP_001180393.1|NP_057092.2	Q8TCX1	DC2L1_HUMAN			9	825	+		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	242					A8MVJ5|Q53F57|Q6PDB2|Q8IWA3|Q96B03|Q96J00|Q9Y370|Q9Y3S9	Missense_Mutation	SNP	ENST00000260605.8	37	c.725A>G	CCDS1813.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	11.76|11.76	1.735376|1.735376	0.30774|0.30774	.|.	.|.	ENSG00000138036|ENSG00000138036	ENST00000260605;ENST00000443170|ENST00000378587	T;T|.	0.16897|.	2.31;2.31|.	5.09|5.09	3.94|3.94	0.45596|0.45596	.|.	0.142348|.	0.64402|.	N|.	0.000008|.	T|T	0.53142|0.53142	0.1778|0.1778	L|L	0.38175|0.38175	1.15|1.15	0.53688|0.53688	D|D	0.999971|0.999971	B;B;B|.	0.02656|.	0.0;0.0;0.0|.	B;B;B|.	0.01281|.	0.0;0.0;0.0|.	T|T	0.45716|0.45716	-0.9242|-0.9242	10|5	0.52906|.	T|.	0.07|.	-4.6274|-4.6274	10.7932|10.7932	0.46445|0.46445	0.926:0.0:0.074:0.0|0.926:0.0:0.074:0.0	.|.	243;242;242|.	Q8TCX1-2;Q8TCX1;Q8TCX1-3|.	.;DC2L1_HUMAN;.|.	G|A	242;116|226	ENSP00000260605:D242G;ENSP00000388941:D116G|.	ENSP00000260605:D242G|.	D|T	+|+	2|1	0|0	DYNC2LI1|DYNC2LI1	43881554|43881554	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.969000|0.969000	0.65631|0.65631	5.058000|5.058000	0.64300|0.64300	0.960000|0.960000	0.38005|0.38005	0.477000|0.477000	0.44152|0.44152	GAC|ACA		0.318	DYNC2LI1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000250536.2	NM_016008		4	41	0	0	0	1	0	4	41					G	44028050	A	G	44028050	3	3	435	1	0	0	0	0	1	0	0	0	4847	275	10	4	858	4	DYNC2LI1	2	44028050	Missense_Mutation	SNP	A	TCGA-XK-AAIW-01A-11D-A41K-08	35474	44028050	199171323	1071	21996											
SLC3A1	6519	broad.mit.edu	37	chr2	44502871	44502871	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caagggcgtccagccctatgCggggatgcccaaggaggtgc	8	5	16	12	2	0	0	0	0	0	0	1	2	1	2	3	5	4	0	3	5	3	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:44502871C>T	ENST00000260649.6	+	1	273	c.197C>T	c.(196-198)gCg>gTg	p.A66V	SLC3A1_ENST00000409387.1_Missense_Mutation_p.A66V|SLC3A1_ENST00000410056.3_Missense_Mutation_p.A66V|SLC3A1_ENST00000409229.3_Missense_Mutation_p.A66V|SLC3A1_ENST00000409741.1_Missense_Mutation_p.A66V	NM_000341.3	NP_000332.2	Q07837	SLC31_HUMAN	solute carrier family 3 (amino acid transporter heavy chain), member 1	66					amino acid transmembrane transport (GO:0003333)|amino acid transport (GO:0006865)|basic amino acid transport (GO:0015802)|carbohydrate metabolic process (GO:0005975)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|L-cystine transport (GO:0015811)|transmembrane transport (GO:0055085)	brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)|vacuolar membrane (GO:0005774)	amino acid transmembrane transporter activity (GO:0015171)|basic amino acid transmembrane transporter activity (GO:0015174)|catalytic activity (GO:0003824)|cation binding (GO:0043169)|L-cystine transmembrane transporter activity (GO:0015184)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(1)|skin(3)	26		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)			L-Cystine(DB00138)	CAGCCCTATGCGGGGATGCCC	0.622																																						ENST00000260649.6																			0				breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(1)|skin(3)	26						c.(196-198)gCg>gTg		solute carrier family 3 (amino acid transporter heavy chain), member 1	L-Cystine(DB00138)						46	43	44					2																	44502871		2203	4300	6503	SO:0001583	missense	6519				carbohydrate metabolic process|cellular amino acid metabolic process|ion transport	integral to plasma membrane|membrane fraction	basic amino acid transmembrane transporter activity|catalytic activity|cation binding|L-cystine transmembrane transporter activity	g.chr2:44502871C>T		CCDS1819.1	2p16.3	2013-07-19	2013-07-19		ENSG00000138079	ENSG00000138079		"Solute carriers"	11025	protein-coding gene	gene with protein product		104614	"solute carrier family 3 (cystine, dibasic and neutral amino acid transporters, activator of cystine, dibasic and neutral amino acid transport), member 1"			8486766, 9186880	Standard	NM_000341		Approved	CSNU1, D2H, RBAT, ATR1, NBAT	uc002ruc.4	Q07837	OTTHUMG00000128759	ENST00000260649.6:c.197C>T	2.37:g.44502871C>T	ENSP00000260649:p.Ala66Val					SLC3A1_ENST00000410056.3_Missense_Mutation_p.A66V|SLC3A1_ENST00000409387.1_Missense_Mutation_p.A66V|SLC3A1_ENST00000409741.1_Missense_Mutation_p.A66V|SLC3A1_ENST00000409229.3_Missense_Mutation_p.A66V	p.A66V	NM_000341.3	NP_000332.2	Q07837	SLC31_HUMAN			1	273	+		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	66					A8K0S1|O00658|Q15295|Q4J6B4|Q4J6B5|Q4J6B6|Q4J6B7|Q4J6B8|Q4J6B9|Q52M92|Q52M94	Missense_Mutation	SNP	ENST00000260649.6	37	c.197C>T	CCDS1819.1	.	.	.	.	.	.	.	.	.	.	C	34	5.404032	0.96051	.	.	ENSG00000138079	ENST00000260649;ENST00000409387;ENST00000410056;ENST00000409741;ENST00000409229;ENST00000541289	D;D;D;D;D	0.99552	-5.55;-6.15;-5.53;-6.0;-6.15	5.66	5.66	0.87406	.	0.151903	0.64402	D	0.000017	D	0.99477	0.9814	L	0.58583	1.82	0.80722	D	1	D;D;D;D;D	0.89917	0.999;0.997;1.0;1.0;1.0	P;P;D;D;D	0.75020	0.799;0.699;0.985;0.978;0.978	D	0.99364	1.0918	10	0.48119	T	0.1	-19.808	19.76	0.96311	0.0:1.0:0.0:0.0	.	66;66;66;66;66	Q07837;B8ZZK1;Q4J6B5;Q4J6B6;Q4J6B8	SLC31_HUMAN;.;.;.;.	V	66	ENSP00000260649:A66V;ENSP00000387308:A66V;ENSP00000387337:A66V;ENSP00000386954:A66V;ENSP00000386620:A66V	ENSP00000260649:A66V	A	+	2	0	SLC3A1	44356375	1.000000	0.71417	0.686000	0.30086	0.768000	0.43524	7.683000	0.84093	2.666000	0.90696	0.655000	0.94253	GCG		0.622	SLC3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250676.1	NM_000341		12	10	0	0	0	1	0	12	10					T	44502871	C	T	44502871	3	4	435	1	0	0	0	0	1	0	0	0	14626	768	27	1	199	1	SLC3A1	2	44502871	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	474821	44502871	198696502	1072	21997											
SLC3A1	6519	broad.mit.edu	37	chr2	44503055	44503055	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gggcccatgtaccagatctaCccaaggtctttcaaggacag	11	8	10	12	0	3	1	1	0	2	1	3	2	3	2	3	3	2	1	3	3	4	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:44503055C>A	ENST00000260649.6	+	1	457	c.381C>A	c.(379-381)taC>taA	p.Y127*	SLC3A1_ENST00000409387.1_Nonsense_Mutation_p.Y127*|SLC3A1_ENST00000410056.3_Nonsense_Mutation_p.Y127*|SLC3A1_ENST00000409229.3_Nonsense_Mutation_p.Y127*|SLC3A1_ENST00000409741.1_Nonsense_Mutation_p.Y127*	NM_000341.3	NP_000332.2	Q07837	SLC31_HUMAN	solute carrier family 3 (amino acid transporter heavy chain), member 1	127					amino acid transmembrane transport (GO:0003333)|amino acid transport (GO:0006865)|basic amino acid transport (GO:0015802)|carbohydrate metabolic process (GO:0005975)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|L-cystine transport (GO:0015811)|transmembrane transport (GO:0055085)	brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)|vacuolar membrane (GO:0005774)	amino acid transmembrane transporter activity (GO:0015171)|basic amino acid transmembrane transporter activity (GO:0015174)|catalytic activity (GO:0003824)|cation binding (GO:0043169)|L-cystine transmembrane transporter activity (GO:0015184)	p.Y127*(1)		breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(1)|skin(3)	26		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)			L-Cystine(DB00138)	ACCAGATCTACCCAAGGTCTT	0.527																																						ENST00000260649.6																			1	Substitution - Nonsense(1)	p.Y127*(1)	large_intestine(1)	breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(1)|skin(3)	26						c.(379-381)taC>taA		solute carrier family 3 (amino acid transporter heavy chain), member 1	L-Cystine(DB00138)																																			SO:0001587	stop_gained	6519				carbohydrate metabolic process|cellular amino acid metabolic process|ion transport	integral to plasma membrane|membrane fraction	basic amino acid transmembrane transporter activity|catalytic activity|cation binding|L-cystine transmembrane transporter activity	g.chr2:44503055C>A		CCDS1819.1	2p16.3	2013-07-19	2013-07-19		ENSG00000138079	ENSG00000138079		"Solute carriers"	11025	protein-coding gene	gene with protein product		104614	"solute carrier family 3 (cystine, dibasic and neutral amino acid transporters, activator of cystine, dibasic and neutral amino acid transport), member 1"			8486766, 9186880	Standard	NM_000341		Approved	CSNU1, D2H, RBAT, ATR1, NBAT	uc002ruc.4	Q07837	OTTHUMG00000128759	ENST00000260649.6:c.381C>A	2.37:g.44503055C>A	ENSP00000260649:p.Tyr127*					SLC3A1_ENST00000410056.3_Nonsense_Mutation_p.Y127*|SLC3A1_ENST00000409387.1_Nonsense_Mutation_p.Y127*|SLC3A1_ENST00000409741.1_Nonsense_Mutation_p.Y127*|SLC3A1_ENST00000409229.3_Nonsense_Mutation_p.Y127*	p.Y127*	NM_000341.3	NP_000332.2	Q07837	SLC31_HUMAN			1	457	+		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	127					A8K0S1|O00658|Q15295|Q4J6B4|Q4J6B5|Q4J6B6|Q4J6B7|Q4J6B8|Q4J6B9|Q52M92|Q52M94	Nonsense_Mutation	SNP	ENST00000260649.6	37	c.381C>A	CCDS1819.1	.	.	.	.	.	.	.	.	.	.	C	37	6.365127	0.97507	.	.	ENSG00000138079	ENST00000260649;ENST00000409387;ENST00000540334;ENST00000410056;ENST00000409741;ENST00000409229;ENST00000541289	.	.	.	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-21.5929	12.2436	0.54558	0.0:0.8775:0.0:0.1225	.	.	.	.	X	127;127;63;127;127;127;127	.	ENSP00000260649:Y127X	Y	+	3	2	SLC3A1	44356559	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	0.950000	0.29122	2.566000	0.86566	0.655000	0.94253	TAC		0.527	SLC3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250676.1	NM_000341		20	29	1	0	1.22574e-08	1	1.29596e-08	20	29					A	44503055	C	A	44503055	4	1	435	1	0	0	0	0	0	1	0	0	14626	518	18	5	383	5	SLC3A1	2	44503055	Nonsense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	184	44503055	198696318	1073	21998											
SLC3A1	6519	broad.mit.edu	37	chr2	44541027	44541027	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gacaatagttcaaatgctggTttttctgaagctagtaacac	13	13	8	7	0	2	1	1	1	1	0	2	2	2	1	0	1	3	5	0	1	6	6			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:44541027T>C	ENST00000260649.6	+	9	1630	c.1554T>C	c.(1552-1554)ggT>ggC	p.G518G	SLC3A1_ENST00000409387.1_Silent_p.G518G|SLC3A1_ENST00000409294.1_Silent_p.G138G|SLC3A1_ENST00000409740.3_Silent_p.G149G|SLC3A1_ENST00000409229.3_Silent_p.G518G|SLC3A1_ENST00000409380.1_Silent_p.G240G	NM_000341.3	NP_000332.2	Q07837	SLC31_HUMAN	solute carrier family 3 (amino acid transporter heavy chain), member 1	518					amino acid transmembrane transport (GO:0003333)|amino acid transport (GO:0006865)|basic amino acid transport (GO:0015802)|carbohydrate metabolic process (GO:0005975)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|L-cystine transport (GO:0015811)|transmembrane transport (GO:0055085)	brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)|vacuolar membrane (GO:0005774)	amino acid transmembrane transporter activity (GO:0015171)|basic amino acid transmembrane transporter activity (GO:0015174)|catalytic activity (GO:0003824)|cation binding (GO:0043169)|L-cystine transmembrane transporter activity (GO:0015184)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(1)|skin(3)	26		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)			L-Cystine(DB00138)	CAAATGCTGGTTTTTCTGAAG	0.368																																						ENST00000260649.6																			0				breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(1)|skin(3)	26						c.(1552-1554)ggT>ggC		solute carrier family 3 (amino acid transporter heavy chain), member 1	L-Cystine(DB00138)						111	100	103					2																	44541027		2203	4300	6503	SO:0001819	synonymous_variant	6519				carbohydrate metabolic process|cellular amino acid metabolic process|ion transport	integral to plasma membrane|membrane fraction	basic amino acid transmembrane transporter activity|catalytic activity|cation binding|L-cystine transmembrane transporter activity	g.chr2:44541027T>C		CCDS1819.1	2p16.3	2013-07-19	2013-07-19		ENSG00000138079	ENSG00000138079		"Solute carriers"	11025	protein-coding gene	gene with protein product		104614	"solute carrier family 3 (cystine, dibasic and neutral amino acid transporters, activator of cystine, dibasic and neutral amino acid transport), member 1"			8486766, 9186880	Standard	NM_000341		Approved	CSNU1, D2H, RBAT, ATR1, NBAT	uc002ruc.4	Q07837	OTTHUMG00000128759	ENST00000260649.6:c.1554T>C	2.37:g.44541027T>C						SLC3A1_ENST00000409294.1_Silent_p.G138G|SLC3A1_ENST00000409740.3_Silent_p.G149G|SLC3A1_ENST00000409387.1_Silent_p.G518G|SLC3A1_ENST00000409380.1_Silent_p.G240G|SLC3A1_ENST00000409229.3_Silent_p.G518G	p.G518G	NM_000341.3	NP_000332.2	Q07837	SLC31_HUMAN			9	1630	+		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	518					A8K0S1|O00658|Q15295|Q4J6B4|Q4J6B5|Q4J6B6|Q4J6B7|Q4J6B8|Q4J6B9|Q52M92|Q52M94	Silent	SNP	ENST00000260649.6	37	c.1554T>C	CCDS1819.1																																																																																				0.368	SLC3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250676.1	NM_000341		27	40	0	0	0	1	0	27	40					C	44541027	T	C	44541027	2	2	435	1	0	0	0	0	0	0	0	1	14626	1712	60	4		4	SLC3A1	2	44541027	Silent	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	37972	44541027	198658346	1074	21999											
SIX2	10736	broad.mit.edu	37	chr2	45235795	45235795	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgccagctcacgcttctcgCggggtgaagggtaggggttg	5	8	17	11	4	2	1	1	1	1	0	3	1	2	1	2	5	1	4	2	5	2	3	rs369994485		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:45235795C>T	ENST00000303077.6	-	1	774	c.455G>A	c.(454-456)cGc>cAc	p.R152H		NM_016932.4	NP_058628.3	Q9NPC8	SIX2_HUMAN	SIX homeobox 2	152					anatomical structure morphogenesis (GO:0009653)|anterior/posterior axis specification (GO:0009948)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|chondrocyte differentiation (GO:0002062)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic digestive tract morphogenesis (GO:0048557)|kidney development (GO:0001822)|mesenchymal cell differentiation involved in kidney development (GO:0072161)|mesenchymal stem cell maintenance involved in nephron morphogenesis (GO:0072038)|mesenchymal stem cell proliferation (GO:0097168)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|mesodermal cell fate specification (GO:0007501)|middle ear morphogenesis (GO:0042474)|nephron development (GO:0072006)|nephron morphogenesis (GO:0072028)|positive regulation of chondrocyte proliferation (GO:1902732)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein import into nucleus (GO:0006606)|regulation of branching involved in ureteric bud morphogenesis (GO:0090189)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(6)|large_intestine(3)|lung(8)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	22		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				ACGCTTCTCGCGGGGTGAAGG	0.667																																						ENST00000303077.6																			0				endometrium(6)|large_intestine(3)|lung(8)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	22						c.(454-456)cGc>cAc		SIX homeobox 2		C	HIS/ARG	0,4406		0,0,2203	56	61	59		455	5.2	1	2		59	1,8599	1.2+/-3.3	0,1,4299	no	missense	SIX2	NM_016932.4	29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging	152/292	45235795	1,13005	2203	4300	6503	SO:0001583	missense	10736					nucleus	sequence-specific DNA binding transcription factor activity	g.chr2:45235795C>T	AF136939	CCDS1822.1	2p21	2011-06-20	2007-07-13		ENSG00000170577	ENSG00000170577		"Homeoboxes / SINE class"	10888	protein-coding gene	gene with protein product		604994	"sine oculis homeobox (Drosophila) homolog 2", "sine oculis homeobox homolog 2 (Drosophila)"				Standard	NM_016932		Approved		uc002ruo.3	Q9NPC8	OTTHUMG00000152421	ENST00000303077.6:c.455G>A	2.37:g.45235795C>T	ENSP00000304502:p.Arg152His						p.R152H	NM_016932.4	NP_058628.3	Q9NPC8	SIX2_HUMAN			1	774	-		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	152					Q9BXH7	Missense_Mutation	SNP	ENST00000303077.6	37	c.455G>A	CCDS1822.1	.	.	.	.	.	.	.	.	.	.	C	26.9	4.783756	0.90282	0.0	1.16E-4	ENSG00000170577	ENST00000303077	D	0.96168	-3.93	5.19	5.19	0.71726	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	D	0.92854	0.7727	N	0.20986	0.625	0.80722	D	1	P;P	0.45957	0.869;0.624	P;B	0.45406	0.479;0.258	D	0.93267	0.6648	10	0.46703	T	0.11	-29.1065	18.3301	0.90265	0.0:1.0:0.0:0.0	.	152;152	Q8TBA2;Q9NPC8	.;SIX2_HUMAN	H	152	ENSP00000304502:R152H	ENSP00000304502:R152H	R	-	2	0	SIX2	45089299	1.000000	0.71417	0.990000	0.47175	0.962000	0.63368	6.034000	0.70933	2.413000	0.81919	0.462000	0.41574	CGC		0.667	SIX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326188.2			12	52	0	0	0	1	0	12	52					T	45235795	C	T	45235795	3	4	435	1	0	0	0	0	1	0	0	0	14347	768	27	1	428	1	SIX2	2	45235795	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	694768	45235795	197963578	1075	22000											
SIX2	10736	broad.mit.edu	37	chr2	45236004	45236004	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttgagccacagctgctgcagCttggcgtggttgtgcggcga	5	10	16	10	3	0	1	0	1	0	0	0	2	0	1	1	3	6	5	1	3	0	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:45236004C>T	ENST00000303077.6	-	1	565	c.246G>A	c.(244-246)aaG>aaA	p.K82K		NM_016932.4	NP_058628.3	Q9NPC8	SIX2_HUMAN	SIX homeobox 2	82					anatomical structure morphogenesis (GO:0009653)|anterior/posterior axis specification (GO:0009948)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|chondrocyte differentiation (GO:0002062)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic digestive tract morphogenesis (GO:0048557)|kidney development (GO:0001822)|mesenchymal cell differentiation involved in kidney development (GO:0072161)|mesenchymal stem cell maintenance involved in nephron morphogenesis (GO:0072038)|mesenchymal stem cell proliferation (GO:0097168)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|mesodermal cell fate specification (GO:0007501)|middle ear morphogenesis (GO:0042474)|nephron development (GO:0072006)|nephron morphogenesis (GO:0072028)|positive regulation of chondrocyte proliferation (GO:1902732)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein import into nucleus (GO:0006606)|regulation of branching involved in ureteric bud morphogenesis (GO:0090189)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(6)|large_intestine(3)|lung(8)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	22		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				GCTGCTGCAGCTTGGCGTGGT	0.652																																						ENST00000303077.6																			0				endometrium(6)|large_intestine(3)|lung(8)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	22						c.(244-246)aaG>aaA		SIX homeobox 2							71	69	70					2																	45236004		2203	4300	6503	SO:0001819	synonymous_variant	10736					nucleus	sequence-specific DNA binding transcription factor activity	g.chr2:45236004C>T	AF136939	CCDS1822.1	2p21	2011-06-20	2007-07-13		ENSG00000170577	ENSG00000170577		"Homeoboxes / SINE class"	10888	protein-coding gene	gene with protein product		604994	"sine oculis homeobox (Drosophila) homolog 2", "sine oculis homeobox homolog 2 (Drosophila)"				Standard	NM_016932		Approved		uc002ruo.3	Q9NPC8	OTTHUMG00000152421	ENST00000303077.6:c.246G>A	2.37:g.45236004C>T							p.K82K	NM_016932.4	NP_058628.3	Q9NPC8	SIX2_HUMAN			1	565	-		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	82					Q9BXH7	Silent	SNP	ENST00000303077.6	37	c.246G>A	CCDS1822.1																																																																																				0.652	SIX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326188.2			35	43	0	0	0	1	0	35	43					T	45236004	C	T	45236004	2	4	435	1	0	0	0	0	0	0	0	1	14347	796	28	3		3	SIX2	2	45236004	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	209	45236004	197963369	1076	22001											
PRKCE	5581	broad.mit.edu	37	chr2	46203588	46203588	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cccctaaagacaatgaagagCgtgtgttcagggaacgcatg	13	7	12	9	2	1	3	1	1	0	2	1	4	1	4	2	1	2	2	2	1	5	2	rs144454815		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:46203588C>T	ENST00000306156.3	+	3	760	c.433C>T	c.(433-435)Cgt>Tgt	p.R145C		NM_005400.2	NP_005391.1	Q02156	KPCE_HUMAN	protein kinase C, epsilon	145					activation of phospholipase C activity (GO:0007202)|apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell cycle (GO:0007049)|cell division (GO:0051301)|cellular response to ethanol (GO:0071361)|cellular response to hypoxia (GO:0071456)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|locomotory exploration behavior (GO:0035641)|macrophage activation involved in immune response (GO:0002281)|negative regulation of sodium ion transmembrane transporter activity (GO:2000650)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|platelet activation (GO:0030168)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of cellular glucuronidation (GO:2001031)|positive regulation of cytokinesis (GO:0032467)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of fibroblast migration (GO:0010763)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of insulin secretion (GO:0032024)|positive regulation of lipid catabolic process (GO:0050996)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mucus secretion (GO:0070257)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|positive regulation of wound healing (GO:0090303)|protein phosphorylation (GO:0006468)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|release of sequestered calcium ion into cytosol (GO:0051209)|response to morphine (GO:0043278)|signal transduction (GO:0007165)|TRAM-dependent toll-like receptor 4 signaling pathway (GO:0035669)	cell periphery (GO:0071944)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	actin monomer binding (GO:0003785)|ATP binding (GO:0005524)|calcium-independent protein kinase C activity (GO:0004699)|enzyme activator activity (GO:0008047)|enzyme binding (GO:0019899)|ethanol binding (GO:0035276)|metal ion binding (GO:0046872)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)|receptor activator activity (GO:0030546)|signal transducer activity (GO:0004871)		MBOAT2/PRKCE(2)	breast(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(13)|ovary(3)|upper_aerodigestive_tract(2)	34		all_hematologic(82;0.155)|Acute lymphoblastic leukemia(82;0.209)	LUSC - Lung squamous cell carcinoma(58;0.171)		Tamoxifen(DB00675)	CAATGAAGAGCGTGTGTTCAG	0.577													C|||	1	0.000199681	0	0	5008	,	,		20605	0		0.001	False		,,,				2504	0					ENST00000306156.3																		MBOAT2/PRKCE(2)	0				breast(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(13)|ovary(3)|upper_aerodigestive_tract(2)	34						c.(433-435)Cgt>Tgt		protein kinase C, epsilon							71	78	75					2																	46203588		2150	4247	6397	SO:0001583	missense	5581				activation of phospholipase C activity|induction of apoptosis|intracellular signal transduction|nerve growth factor receptor signaling pathway|platelet activation	cytosol|endoplasmic reticulum|plasma membrane	ATP binding|enzyme activator activity|metal ion binding|signal transducer activity	g.chr2:46203588C>T		CCDS1824.1	2p21	2009-07-10			ENSG00000171132	ENSG00000171132	2.7.11.1		9401	protein-coding gene	gene with protein product		176975				1382605, 7877991	Standard	NM_005400		Approved		uc002rut.3	Q02156	OTTHUMG00000128817	ENST00000306156.3:c.433C>T	2.37:g.46203588C>T	ENSP00000306124:p.Arg145Cys						p.R145C	NM_005400.2	NP_005391.1	Q02156	KPCE_HUMAN	LUSC - Lung squamous cell carcinoma(58;0.171)		3	760	+		all_hematologic(82;0.155)|Acute lymphoblastic leukemia(82;0.209)	145					B0LPH7|Q32MQ3|Q53SL4|Q53SM5|Q9UE81	Missense_Mutation	SNP	ENST00000306156.3	37	c.433C>T	CCDS1824.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	23.3	4.398145	0.83120	.	.	ENSG00000171132	ENST00000306156	T	0.70282	-0.47	4.33	4.33	0.51752	.	0.125410	0.49305	D	0.000159	T	0.70579	0.3240	M	0.72353	2.195	0.80722	D	1	P	0.50369	0.934	B	0.40375	0.327	T	0.78723	-0.2093	10	0.72032	D	0.01	.	17.3732	0.87384	0.0:1.0:0.0:0.0	.	145	Q02156	KPCE_HUMAN	C	145	ENSP00000306124:R145C	ENSP00000306124:R145C	R	+	1	0	PRKCE	46057092	1.000000	0.71417	0.829000	0.32907	0.991000	0.79684	4.143000	0.58051	2.388000	0.81334	0.563000	0.77884	CGT		0.577	PRKCE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250751.2			33	36	0	0	0	1	0	33	36					T	46203588	C	T	46203588	3	4	435	1	0	0	0	0	1	0	0	0	12511	768	27	1	443	1	PRKCE	2	46203588	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	967584	46203588	196995785	1077	22002											
PRKCE	5581	broad.mit.edu	37	chr2	46237637	46237637	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cccgtaccttacccaactctActgctgcttccagaccaagg	9	9	6	17	1	1	1	0	0	1	1	2	1	2	1	5	1	6	3	5	1	5	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:46237637A>G	ENST00000306156.3	+	10	1745	c.1418A>G	c.(1417-1419)tAc>tGc	p.Y473C	PRKCE_ENST00000394874.1_Missense_Mutation_p.Y196C	NM_005400.2	NP_005391.1	Q02156	KPCE_HUMAN	protein kinase C, epsilon	473	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of phospholipase C activity (GO:0007202)|apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell cycle (GO:0007049)|cell division (GO:0051301)|cellular response to ethanol (GO:0071361)|cellular response to hypoxia (GO:0071456)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|locomotory exploration behavior (GO:0035641)|macrophage activation involved in immune response (GO:0002281)|negative regulation of sodium ion transmembrane transporter activity (GO:2000650)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|platelet activation (GO:0030168)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of cellular glucuronidation (GO:2001031)|positive regulation of cytokinesis (GO:0032467)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of fibroblast migration (GO:0010763)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of insulin secretion (GO:0032024)|positive regulation of lipid catabolic process (GO:0050996)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mucus secretion (GO:0070257)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|positive regulation of wound healing (GO:0090303)|protein phosphorylation (GO:0006468)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|release of sequestered calcium ion into cytosol (GO:0051209)|response to morphine (GO:0043278)|signal transduction (GO:0007165)|TRAM-dependent toll-like receptor 4 signaling pathway (GO:0035669)	cell periphery (GO:0071944)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	actin monomer binding (GO:0003785)|ATP binding (GO:0005524)|calcium-independent protein kinase C activity (GO:0004699)|enzyme activator activity (GO:0008047)|enzyme binding (GO:0019899)|ethanol binding (GO:0035276)|metal ion binding (GO:0046872)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)|receptor activator activity (GO:0030546)|signal transducer activity (GO:0004871)		MBOAT2/PRKCE(2)	breast(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(13)|ovary(3)|upper_aerodigestive_tract(2)	34		all_hematologic(82;0.155)|Acute lymphoblastic leukemia(82;0.209)	LUSC - Lung squamous cell carcinoma(58;0.171)		Tamoxifen(DB00675)	ACCCAACTCTACTGCTGCTTC	0.478																																						ENST00000306156.3																		MBOAT2/PRKCE(2)	0				breast(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(13)|ovary(3)|upper_aerodigestive_tract(2)	34						c.(1417-1419)tAc>tGc		protein kinase C, epsilon							78	80	79					2																	46237637		1850	3793	5643	SO:0001583	missense	5581				activation of phospholipase C activity|induction of apoptosis|intracellular signal transduction|nerve growth factor receptor signaling pathway|platelet activation	cytosol|endoplasmic reticulum|plasma membrane	ATP binding|enzyme activator activity|metal ion binding|signal transducer activity	g.chr2:46237637A>G		CCDS1824.1	2p21	2009-07-10			ENSG00000171132	ENSG00000171132	2.7.11.1		9401	protein-coding gene	gene with protein product		176975				1382605, 7877991	Standard	NM_005400		Approved		uc002rut.3	Q02156	OTTHUMG00000128817	ENST00000306156.3:c.1418A>G	2.37:g.46237637A>G	ENSP00000306124:p.Tyr473Cys					PRKCE_ENST00000394874.1_Missense_Mutation_p.Y196C	p.Y473C	NM_005400.2	NP_005391.1	Q02156	KPCE_HUMAN	LUSC - Lung squamous cell carcinoma(58;0.171)		10	1745	+		all_hematologic(82;0.155)|Acute lymphoblastic leukemia(82;0.209)	473			Protein kinase.		B0LPH7|Q32MQ3|Q53SL4|Q53SM5|Q9UE81	Missense_Mutation	SNP	ENST00000306156.3	37	c.1418A>G	CCDS1824.1	.	.	.	.	.	.	.	.	.	.	A	14.35	2.509823	0.44660	.	.	ENSG00000171132	ENST00000306156;ENST00000394874	T;T	0.27890	1.64;2.95	5.53	5.53	0.82687	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.119051	0.64402	D	0.000017	T	0.34250	0.0891	L	0.50333	1.59	0.53688	D	0.999974	B	0.15719	0.014	B	0.27262	0.078	T	0.13176	-1.0519	10	0.72032	D	0.01	.	15.827	0.78718	1.0:0.0:0.0:0.0	.	473	Q02156	KPCE_HUMAN	C	473;196	ENSP00000306124:Y473C;ENSP00000378341:Y196C	ENSP00000306124:Y473C	Y	+	2	0	PRKCE	46091141	1.000000	0.71417	0.988000	0.46212	0.996000	0.88848	4.183000	0.58317	2.324000	0.78689	0.533000	0.62120	TAC		0.478	PRKCE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250751.2			23	21	0	0	0	1	0	23	21					G	46237637	A	G	46237637	3	3	435	1	0	0	0	0	1	0	0	0	12511	391	14	4	1456	4	PRKCE	2	46237637	Missense_Mutation	SNP	A	TCGA-XK-AAIW-01A-11D-A41K-08	34049	46237637	196961736	1078	22003											
TTC7A	57217	broad.mit.edu	37	chr2	47221572	47221572	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggagccccctgtcccaccCtctgcctgagttcatgggca	5	9	10	17	0	2	1	1	1	1	0	3	2	3	2	5	2	2	2	5	2	0	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:47221572C>A	ENST00000319190.5	+	7	1288	c.920C>A	c.(919-921)cCt>cAt	p.P307H	TTC7A_ENST00000263737.6_Intron|TTC7A_ENST00000394850.2_Missense_Mutation_p.P307H|TTC7A_ENST00000461601.1_3'UTR|TTC7A_ENST00000409245.1_Missense_Mutation_p.P273H	NM_020458.2	NP_065191.2	Q9ULT0	TTC7A_HUMAN	tetratricopeptide repeat domain 7A	307					cellular iron ion homeostasis (GO:0006879)|hemopoiesis (GO:0030097)					breast(4)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	25		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	Lung(47;0.0792)|LUSC - Lung squamous cell carcinoma(58;0.114)			CTGTCCCACCCTCTGCCTGAG	0.612																																						ENST00000319190.5																			0				breast(4)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	25						c.(919-921)cCt>cAt		tetratricopeptide repeat domain 7A							79	76	77					2																	47221572		2203	4300	6503	SO:0001583	missense	57217						binding	g.chr2:47221572C>A	AB032966	CCDS33193.1, CCDS74510.1, CCDS74511.1	2p16.3	2013-01-10	2004-06-02	2004-06-02	ENSG00000068724	ENSG00000068724		"Tetratricopeptide (TTC) repeat domain containing"	19750	protein-coding gene	gene with protein product		609332	"tetratricopeptide repeat domain 7"	TTC7		10574461	Standard	XM_005264439		Approved	KIAA1140	uc002rvo.3	Q9ULT0	OTTHUMG00000153121	ENST00000319190.5:c.920C>A	2.37:g.47221572C>A	ENSP00000316699:p.Pro307His					TTC7A_ENST00000409245.1_Missense_Mutation_p.P273H|TTC7A_ENST00000394850.2_Missense_Mutation_p.P307H|TTC7A_ENST00000263737.6_Intron|TTC7A_ENST00000461601.1_3'UTR	p.P307H	NM_020458.2	NP_065191.2	Q9ULT0	TTC7A_HUMAN	Lung(47;0.0792)|LUSC - Lung squamous cell carcinoma(58;0.114)		7	1288	+		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	307					Q6PIX4|Q8ND67|Q9BUS3	Missense_Mutation	SNP	ENST00000319190.5	37	c.920C>A	CCDS33193.1	.	.	.	.	.	.	.	.	.	.	C	19.66	3.869677	0.72065	.	.	ENSG00000068724	ENST00000409245;ENST00000319190;ENST00000394850;ENST00000434093	T;T;T	0.34472	1.78;1.78;1.36	4.63	4.63	0.57726	.	0.063281	0.64402	D	0.000005	T	0.54743	0.1877	L	0.58101	1.795	0.80722	D	1	D;D;D;D;P	0.89917	0.999;0.991;1.0;1.0;0.654	D;P;D;D;B	0.69307	0.915;0.827;0.953;0.963;0.335	T	0.50524	-0.8818	10	0.36615	T	0.2	-3.1945	16.7677	0.85528	0.0:1.0:0.0:0.0	.	307;273;307;135;273	Q2T9J9;B3KPK7;Q9ULT0;Q6P0M3;G5E9G4	.;.;TTC7A_HUMAN;.;.	H	273;307;307;134	ENSP00000386307:P273H;ENSP00000316699:P307H;ENSP00000378320:P307H	ENSP00000316699:P307H	P	+	2	0	TTC7A	47075076	0.963000	0.33076	0.978000	0.43139	0.980000	0.70556	3.511000	0.53400	2.569000	0.86673	0.655000	0.94253	CCT		0.612	TTC7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329667.2	XM_372927		26	79	1	0	9.86323e-18	1	1.08645e-17	26	79					A	47221572	C	A	47221572	3	1	435	1	0	0	0	0	1	0	0	0	16709	681	24	5	946	5	TTC7A	2	47221572	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	983935	47221572	195977801	1079	22004											
MSH6	2956	broad.mit.edu	37	chr2	48026079	48026079	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaagctctaggaaggaaacGccctcagccaccaaacaagc	17	3	8	13	1	2	0	1	0	1	0	2	2	2	2	3	2	5	1	3	2	7	1	rs375210430		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:48026079G>A	ENST00000234420.5	+	4	1109	c.957G>A	c.(955-957)acG>acA	p.T319T	MSH6_ENST00000538136.1_Silent_p.T17T|MSH6_ENST00000540021.1_Silent_p.T189T|FBXO11_ENST00000405808.1_Intron	NM_000179.2	NP_000170.1	P52701	MSH6_HUMAN	mutS homolog 6	319					ATP catabolic process (GO:0006200)|determination of adult lifespan (GO:0008340)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|isotype switching (GO:0045190)|meiotic mismatch repair (GO:0000710)|mismatch repair (GO:0006298)|negative regulation of DNA recombination (GO:0045910)|positive regulation of helicase activity (GO:0051096)|reciprocal meiotic recombination (GO:0007131)|response to UV (GO:0009411)|somatic hypermutation of immunoglobulin genes (GO:0016446)|somatic recombination of immunoglobulin gene segments (GO:0016447)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|MutSalpha complex (GO:0032301)|nuclear chromatin (GO:0000790)|nuclear chromosome (GO:0000228)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|damaged DNA binding (GO:0003684)|DNA-dependent ATPase activity (GO:0008094)|guanine/thymine mispair binding (GO:0032137)|methylated histone binding (GO:0035064)|mismatched DNA binding (GO:0030983)	p.0?(2)		breast(8)|central_nervous_system(29)|cervix(1)|endometrium(32)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(75)|lung(25)|ovary(3)|prostate(3)|skin(10)|stomach(22)|thyroid(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	229		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			GGAAGGAAACGCCCTCAGCCA	0.463			"Mis, N, F, S"		colorectal	"colorectal, endometrial, ovarian"		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome																													ENST00000234420.4			yes	Rec	yes	Hereditary non-polyposis colorectal cancer	2	2p16	2956	"Mis, N, F, S"	mutS homolog 6 (E. coli)			E		"colorectal, endometrial, ovarian"	colorectal		2	Whole gene deletion(2)	p.0?(2)	haematopoietic_and_lymphoid_tissue(2)	breast(8)|central_nervous_system(29)|cervix(1)|endometrium(32)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(75)|lung(25)|ovary(3)|prostate(3)|skin(10)|stomach(22)|thyroid(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	229						c.(955-957)acG>acA	Mismatch excision repair (MMR)	mutS homolog 6		G		0,4406		0,0,2203	148	157	154		957	0.5	0.1	2		154	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	MSH6	NM_000179.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		319/1361	48026079	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	2956	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome; ;Hereditary Non-Polyposis Colorectal Cancer, HNPCC, Lynch syndromes 1 and 2 (= Cancer Family Syndrome), Hereditary Mismatch Repair Deficiency syndrome, HMRDS;Mismatch Repair Cancer syndrome, MMRCS, Childhood Cancer Syndrome, CCS, Biallelic Mismatch Repair Gene Mutations Associated Early Onset Cancer, Lynch syndrome type III	determination of adult lifespan|DNA damage response, signal transduction resulting in induction of apoptosis|isotype switching|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|response to UV|somatic hypermutation of immunoglobulin genes	MutSalpha complex	ATP binding|DNA-dependent ATPase activity|protein binding	g.chr2:48026079G>A	U54777	CCDS1836.1, CCDS62906.1, CCDS62907.1	2p16	2014-09-17	2013-09-12		ENSG00000116062	ENSG00000116062			7329	protein-coding gene	gene with protein product		600678	"mutS (E. coli) homolog 6", "mutS homolog 6 (E. coli)"	GTBP		7604266	Standard	NM_000179		Approved		uc002rwd.4	P52701	OTTHUMG00000129129	ENST00000234420.5:c.957G>A	2.37:g.48026079G>A						MSH6_ENST00000538136.1_Silent_p.T17T|MSH6_ENST00000540021.1_Silent_p.T189T|FBXO11_ENST00000405808.1_Intron	p.T319T	NM_000179.2	NP_000170.1	P52701	MSH6_HUMAN	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		4	1109	+		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	319					B4DF41|B4E3I4|F5H2F9|O43706|O43917|Q8TCX4|Q9BTB5	Silent	SNP	ENST00000234420.5	37	c.957G>A	CCDS1836.1																																																																																				0.463	MSH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251180.4	NM_000179		68	96	0	0	0	1	0	68	96					A	48026079	G	A	48026079	2	1	435	1	0	0	0	0	0	0	0	1	9874	1074	38	1		1	MSH6	2	48026079	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	804507	48026079	195173294	1080	22005											
MSH6	2956	broad.mit.edu	37	chr2	48026577	48026577	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaagtagcacgagtggaacaGactgagactccagaaatgat	17	6	11	7	1	0	4	0	2	0	3	1	7	1	5	1	1	2	2	1	1	4	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:48026577G>A	ENST00000234420.5	+	4	1607	c.1455G>A	c.(1453-1455)caG>caA	p.Q485Q	MSH6_ENST00000538136.1_Silent_p.Q183Q|MSH6_ENST00000540021.1_Silent_p.Q355Q|FBXO11_ENST00000405808.1_Intron	NM_000179.2	NP_000170.1	P52701	MSH6_HUMAN	mutS homolog 6	485					ATP catabolic process (GO:0006200)|determination of adult lifespan (GO:0008340)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|isotype switching (GO:0045190)|meiotic mismatch repair (GO:0000710)|mismatch repair (GO:0006298)|negative regulation of DNA recombination (GO:0045910)|positive regulation of helicase activity (GO:0051096)|reciprocal meiotic recombination (GO:0007131)|response to UV (GO:0009411)|somatic hypermutation of immunoglobulin genes (GO:0016446)|somatic recombination of immunoglobulin gene segments (GO:0016447)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|MutSalpha complex (GO:0032301)|nuclear chromatin (GO:0000790)|nuclear chromosome (GO:0000228)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|damaged DNA binding (GO:0003684)|DNA-dependent ATPase activity (GO:0008094)|guanine/thymine mispair binding (GO:0032137)|methylated histone binding (GO:0035064)|mismatched DNA binding (GO:0030983)	p.0?(2)		breast(8)|central_nervous_system(29)|cervix(1)|endometrium(32)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(75)|lung(25)|ovary(3)|prostate(3)|skin(10)|stomach(22)|thyroid(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	229		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			GAGTGGAACAGACTGAGACTC	0.463			"Mis, N, F, S"		colorectal	"colorectal, endometrial, ovarian"		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome																													ENST00000234420.4			yes	Rec	yes	Hereditary non-polyposis colorectal cancer	2	2p16	2956	"Mis, N, F, S"	mutS homolog 6 (E. coli)			E		"colorectal, endometrial, ovarian"	colorectal		2	Whole gene deletion(2)	p.0?(2)	haematopoietic_and_lymphoid_tissue(2)	breast(8)|central_nervous_system(29)|cervix(1)|endometrium(32)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(75)|lung(25)|ovary(3)|prostate(3)|skin(10)|stomach(22)|thyroid(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	229						c.(1453-1455)caG>caA	Mismatch excision repair (MMR)	mutS homolog 6							89	82	84					2																	48026577		2203	4300	6503	SO:0001819	synonymous_variant	2956	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome; ;Hereditary Non-Polyposis Colorectal Cancer, HNPCC, Lynch syndromes 1 and 2 (= Cancer Family Syndrome), Hereditary Mismatch Repair Deficiency syndrome, HMRDS;Mismatch Repair Cancer syndrome, MMRCS, Childhood Cancer Syndrome, CCS, Biallelic Mismatch Repair Gene Mutations Associated Early Onset Cancer, Lynch syndrome type III	determination of adult lifespan|DNA damage response, signal transduction resulting in induction of apoptosis|isotype switching|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|response to UV|somatic hypermutation of immunoglobulin genes	MutSalpha complex	ATP binding|DNA-dependent ATPase activity|protein binding	g.chr2:48026577G>A	U54777	CCDS1836.1, CCDS62906.1, CCDS62907.1	2p16	2014-09-17	2013-09-12		ENSG00000116062	ENSG00000116062			7329	protein-coding gene	gene with protein product		600678	"mutS (E. coli) homolog 6", "mutS homolog 6 (E. coli)"	GTBP		7604266	Standard	NM_000179		Approved		uc002rwd.4	P52701	OTTHUMG00000129129	ENST00000234420.5:c.1455G>A	2.37:g.48026577G>A						MSH6_ENST00000538136.1_Silent_p.Q183Q|MSH6_ENST00000540021.1_Silent_p.Q355Q|FBXO11_ENST00000405808.1_Intron	p.Q485Q	NM_000179.2	NP_000170.1	P52701	MSH6_HUMAN	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		4	1607	+		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	485					B4DF41|B4E3I4|F5H2F9|O43706|O43917|Q8TCX4|Q9BTB5	Silent	SNP	ENST00000234420.5	37	c.1455G>A	CCDS1836.1																																																																																				0.463	MSH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251180.4	NM_000179		21	20	0	0	0	1	0	21	20					A	48026577	G	A	48026577	2	1	435	1	0	0	0	0	0	0	0	1	9874	933	33	3		3	MSH6	2	48026577	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	498	48026577	195172796	1081	22006											
MSH6	2956	broad.mit.edu	37	chr2	48026866	48026866	+	Frame_Shift_Del	DEL	T	T	-																															atgatcgccattgttcgagaTttaggactctagtggcacac																										TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:48026866delT	ENST00000234420.5	+	4	1896	c.1744delT	c.(1744-1746)tttfs	p.F582fs	MSH6_ENST00000538136.1_Frame_Shift_Del_p.F280fs|MSH6_ENST00000540021.1_Frame_Shift_Del_p.F452fs|FBXO11_ENST00000405808.1_Intron	NM_000179.2	NP_000170.1	P52701	MSH6_HUMAN	mutS homolog 6	582					ATP catabolic process (GO:0006200)|determination of adult lifespan (GO:0008340)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|isotype switching (GO:0045190)|meiotic mismatch repair (GO:0000710)|mismatch repair (GO:0006298)|negative regulation of DNA recombination (GO:0045910)|positive regulation of helicase activity (GO:0051096)|reciprocal meiotic recombination (GO:0007131)|response to UV (GO:0009411)|somatic hypermutation of immunoglobulin genes (GO:0016446)|somatic recombination of immunoglobulin gene segments (GO:0016447)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|MutSalpha complex (GO:0032301)|nuclear chromatin (GO:0000790)|nuclear chromosome (GO:0000228)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|damaged DNA binding (GO:0003684)|DNA-dependent ATPase activity (GO:0008094)|guanine/thymine mispair binding (GO:0032137)|methylated histone binding (GO:0035064)|mismatched DNA binding (GO:0030983)	p.0?(2)		breast(8)|central_nervous_system(29)|cervix(1)|endometrium(32)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(75)|lung(25)|ovary(3)|prostate(3)|skin(10)|stomach(22)|thyroid(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	229		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			TTGTTCGAGATTTAGGACTCT	0.388			"Mis, N, F, S"		colorectal	"colorectal, endometrial, ovarian"		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome																													ENST00000234420.4			yes	Rec	yes	Hereditary non-polyposis colorectal cancer	2	2p16	2956	"Mis, N, F, S"	mutS homolog 6 (E. coli)			E		"colorectal, endometrial, ovarian"	colorectal		2	Whole gene deletion(2)	p.0?(2)	haematopoietic_and_lymphoid_tissue(2)	breast(8)|central_nervous_system(29)|cervix(1)|endometrium(32)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(75)|lung(25)|ovary(3)|prostate(3)|skin(10)|stomach(22)|thyroid(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	229						c.(1744-1746)ttfs	Mismatch excision repair (MMR)	mutS homolog 6							141	139	139					2																	48026866		2197	4299	6496	SO:0001589	frameshift_variant	2956	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome; ;Hereditary Non-Polyposis Colorectal Cancer, HNPCC, Lynch syndromes 1 and 2 (= Cancer Family Syndrome), Hereditary Mismatch Repair Deficiency syndrome, HMRDS;Mismatch Repair Cancer syndrome, MMRCS, Childhood Cancer Syndrome, CCS, Biallelic Mismatch Repair Gene Mutations Associated Early Onset Cancer, Lynch syndrome type III	determination of adult lifespan|DNA damage response, signal transduction resulting in induction of apoptosis|isotype switching|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|response to UV|somatic hypermutation of immunoglobulin genes	MutSalpha complex	ATP binding|DNA-dependent ATPase activity|protein binding	g.chr2:48026866delT	U54777	CCDS1836.1, CCDS62906.1, CCDS62907.1	2p16	2014-09-17	2013-09-12		ENSG00000116062	ENSG00000116062			7329	protein-coding gene	gene with protein product		600678	"mutS (E. coli) homolog 6", "mutS homolog 6 (E. coli)"	GTBP		7604266	Standard	NM_000179		Approved		uc002rwd.4	P52701	OTTHUMG00000129129	ENST00000234420.5:c.1744delT	2.37:g.48026866delT	ENSP00000234420:p.Phe582fs					MSH6_ENST00000540021.1_Frame_Shift_Del_p.F452fs|MSH6_ENST00000538136.1_Frame_Shift_Del_p.F280fs|FBXO11_ENST00000405808.1_Intron	p.F582fs	NM_000179.2	NP_000170.1	P52701	MSH6_HUMAN	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		4	1896	+		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	582					B4DF41|B4E3I4|F5H2F9|O43706|O43917|Q8TCX4|Q9BTB5	Frame_Shift_Del	DEL	ENST00000234420.5	37	c.1744delT	CCDS1836.1																																																																																				0.388	MSH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251180.4	NM_000179		72	115						72	115	---	---	---	---	-	48026866	T	-	48026866	7	5	435	1	0	1	0	1	0	0	0	0	9874	1493	52	0	1758	0	MSH6	2	48026866	Frame_Shift_Del	DEL	T	TCGA-XK-AAIW-01A-11D-A41K-08	289	48026866	195172507	1082	22007											
FOXN2	3344	broad.mit.edu	37	chr2	48602517	48602517	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgctccaccttgctggaattCgtacatgtttaggttcccta	7	15	8	11	1	0	0	0	0	0	0	3	1	2	1	3	2	3	5	3	2	4	7	rs377347494		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:48602517C>T	ENST00000340553.3	+	7	1492	c.1231C>T	c.(1231-1233)Cgt>Tgt	p.R411C		NM_002158.3	NP_002149.2	P32314	FOXN2_HUMAN	forkhead box N2	411					transcription, DNA-templated (GO:0006351)	intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	13		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.0272)|LUSC - Lung squamous cell carcinoma(58;0.036)			TGCTGGAATTCGTACATGTTT	0.393																																						ENST00000340553.3																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	13						c.(1231-1233)Cgt>Tgt		forkhead box N2		C	CYS/ARG	0,4406		0,0,2203	37	38	38		1231	5.5	1	2		38	1,8599		0,1,4299	no	missense	FOXN2	NM_002158.3	180	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	411/432	48602517	1,13005	2203	4300	6503	SO:0001583	missense	3344				embryo development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chr2:48602517C>T		CCDS1838.1	2p22-p16	2008-02-05	2006-10-02	2006-10-02	ENSG00000170802	ENSG00000170802		"Forkhead boxes"	5281	protein-coding gene	gene with protein product		143089	"human T-cell leukemia virus enhancer factor"	HTLF		1639393	Standard	NM_002158		Approved		uc002rwh.1	P32314	OTTHUMG00000129168	ENST00000340553.3:c.1231C>T	2.37:g.48602517C>T	ENSP00000343633:p.Arg411Cys						p.R411C	NM_002158.3	NP_002149.2	P32314	FOXN2_HUMAN	Lung(47;0.0272)|LUSC - Lung squamous cell carcinoma(58;0.036)		7	1492	+		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	411					Q15769|Q6P4Q2	Missense_Mutation	SNP	ENST00000340553.3	37	c.1231C>T	CCDS1838.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.175279	0.78564	0.0	1.16E-4	ENSG00000170802	ENST00000304367;ENST00000340553	D	0.96522	-4.04	5.49	5.49	0.81192	.	0.051418	0.85682	D	0.000000	D	0.96430	0.8835	L	0.58810	1.83	0.58432	D	0.999996	D	0.76494	0.999	P	0.53185	0.72	D	0.96423	0.9313	10	0.87932	D	0	.	15.2123	0.73235	0.141:0.859:0.0:0.0	.	411	P32314	FOXN2_HUMAN	C	320;411	ENSP00000343633:R411C	ENSP00000305685:R320C	R	+	1	0	FOXN2	48456021	1.000000	0.71417	0.987000	0.45799	0.964000	0.63967	3.701000	0.54793	2.857000	0.98124	0.650000	0.86243	CGT		0.393	FOXN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251240.3	NM_002158		3	23	0	0	0	1	0	3	23					T	48602517	C	T	48602517	3	4	435	1	0	0	0	0	1	0	0	0	6020	884	31	2	1249	2	FOXN2	2	48602517	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	575651	48602517	194596856	1083	22008											
GPR75	10936	broad.mit.edu	37	chr2	54080776	54080776	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgttccgagaatatataaaaGggtttaatcctgacttgaaa	15	13	8	5	1	0	3	0	2	0	1	2	4	2	3	2	1	0	2	2	1	7	7			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:54080776G>T	ENST00000394705.2	-	2	1388	c.1118C>A	c.(1117-1119)cCt>cAt	p.P373H	ASB3_ENST00000406625.2_Intron|GPR75-ASB3_ENST00000352846.3_Intron|ASB3_ENST00000498475.2_Intron	NM_006794.3	NP_006785.1	O95800	GPR75_HUMAN	G protein-coupled receptor 75	373					chemokine-mediated signaling pathway (GO:0070098)|G-protein coupled receptor signaling pathway (GO:0007186)|regulation of neuron death (GO:1901214)	integral component of plasma membrane (GO:0005887)	C-C chemokine receptor activity (GO:0016493)|G-protein coupled receptor activity (GO:0004930)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	18			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			ATATATAAAAGGGTTTAATCC	0.418																																						ENST00000394705.2																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	18						c.(1117-1119)cCt>cAt		G protein-coupled receptor 75							48	55	53					2																	54080776		2203	4300	6503	SO:0001583	missense	10936					integral to plasma membrane	G-protein coupled receptor activity	g.chr2:54080776G>T	AF101472	CCDS1849.1	2p16	2012-08-21			ENSG00000119737	ENSG00000119737		"GPCR / Class A : Orphans"	4526	protein-coding gene	gene with protein product		606704				10381362	Standard	NM_006794		Approved	WI-31133	uc002rxo.3	O95800	OTTHUMG00000129280	ENST00000394705.2:c.1118C>A	2.37:g.54080776G>T	ENSP00000378195:p.Pro373His					GPR75-ASB3_ENST00000352846.3_Intron|ASB3_ENST00000498475.2_Intron|ASB3_ENST00000406625.2_Intron	p.P373H	NM_006794.3	NP_006785.1	O95800	GPR75_HUMAN	Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)		2	1388	-			373					B2RC02|Q6NWR2	Missense_Mutation	SNP	ENST00000394705.2	37	c.1118C>A	CCDS1849.1	.	.	.	.	.	.	.	.	.	.	G	20.1	3.936184	0.73442	.	.	ENSG00000119737	ENST00000394705	D	0.98807	-5.15	5.61	5.61	0.85477	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	D	0.99199	0.9722	.	.	.	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99751	1.1018	9	0.87932	D	0	-11.5352	19.6278	0.95687	0.0:0.0:1.0:0.0	.	373	O95800	GPR75_HUMAN	H	373	ENSP00000378195:P373H	ENSP00000378195:P373H	P	-	2	0	GPR75	53934280	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.359000	0.97115	2.646000	0.89796	0.561000	0.74099	CCT		0.418	GPR75-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251403.2			14	53	1	0	1.49906e-05	1	1.54943e-05	14	53					T	54080776	G	T	54080776	3	4	435	1	0	0	0	0	1	0	0	0	6708	1000	35	5	508	5	GPR75	2	54080776	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	5478259	54080776	189118597	1084	22009											
TSPYL6	388951	broad.mit.edu	37	chr2	54483161	54483161	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggaacacgattggctccaagCggccatcaaacatatctgcc	12	7	9	13	2	2	0	1	0	1	0	3	2	3	1	3	3	4	1	3	3	4	2	rs537805712		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:54483161C>T	ENST00000317802.7	-	1	248	c.128G>A	c.(127-129)cGc>cAc	p.R43H	ACYP2_ENST00000303536.4_Intron|ACYP2_ENST00000394666.3_Intron|ACYP2_ENST00000606865.1_Intron|ACYP2_ENST00000607452.1_Intron	NM_001003937.2	NP_001003937.2	Q8N831	TSYL6_HUMAN	TSPY-like 6	43					nucleosome assembly (GO:0006334)	nucleus (GO:0005634)				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(1)|ovary(1)|skin(1)|stomach(2)	20						TGGCTCCAAGCGGCCATCAAA	0.602																																						ENST00000317802.7																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(1)|ovary(1)|skin(1)|stomach(2)	20						c.(127-129)cGc>cAc		TSPY-like 6							80	91	88					2																	54483161		1949	4134	6083	SO:0001583	missense	388951				nucleosome assembly	nucleus		g.chr2:54483161C>T	AK097417	CCDS42682.1	2p16.3	2007-10-22			ENSG00000178021	ENSG00000178021			14521	protein-coding gene	gene with protein product							Standard	NM_001003937		Approved		uc002rxr.2	Q8N831	OTTHUMG00000151823	ENST00000317802.7:c.128G>A	2.37:g.54483161C>T	ENSP00000417919:p.Arg43His					ACYP2_ENST00000303536.4_Intron|ACYP2_ENST00000394666.3_Intron|ACYP2_ENST00000606865.1_Intron|ACYP2_ENST00000607452.1_Intron	p.R43H	NM_001003937.2	NP_001003937.2	Q8N831	TSYL6_HUMAN			1	248	-			43					Q6NUJ3	Missense_Mutation	SNP	ENST00000317802.7	37	c.128G>A	CCDS42682.1	.	.	.	.	.	.	.	.	.	.	C	11.48	1.651441	0.29336	.	.	ENSG00000178021	ENST00000317802	T	0.25579	1.79	1.22	1.22	0.21188	.	.	.	.	.	T	0.12347	0.0300	N	0.22421	0.69	0.09310	N	1	P	0.51791	0.948	B	0.34489	0.184	T	0.17228	-1.0376	9	0.62326	D	0.03	.	5.8257	0.18552	0.0:1.0:0.0:0.0	.	43	Q8N831	TSYL6_HUMAN	H	43	ENSP00000417919:R43H	ENSP00000417919:R43H	R	-	2	0	TSPYL6	54336665	0.048000	0.20356	0.123000	0.21794	0.008000	0.06430	0.399000	0.20916	0.968000	0.38212	0.467000	0.42956	CGC		0.602	TSPYL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324069.3	XM_371494		24	51	0	0	0	1	0	24	51					T	54483161	C	T	54483161	3	4	435	1	0	0	0	0	1	0	0	0	16660	768	27	1	1108	1	TSPYL6	2	54483161	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	402385	54483161	188716212	1085	22010											
C2orf73	129852	broad.mit.edu	37	chr2	54570911	54570911	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctgtcttcctaccaccttacGactctaagagcacccagagg	10	9	7	15	1	2	2	0	0	2	2	3	3	3	2	4	1	3	1	4	1	3	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:54570911G>A	ENST00000398634.2	+	3	331	c.289G>A	c.(289-291)Gac>Aac	p.D97N	C2orf73_ENST00000405749.1_Missense_Mutation_p.D39N|C2orf73_ENST00000491538.1_Intron	NM_001100396.1	NP_001093866.1	Q8N5S3	CB073_HUMAN	chromosome 2 open reading frame 73	97										breast(2)	2						ACCACCTTACGACTCTAAGAG	0.448																																						ENST00000398634.2																			0				breast(2)	2						c.(289-291)Gac>Aac		chromosome 2 open reading frame 73							78	78	78					2																	54570911		1872	4103	5975	SO:0001583	missense	129852							g.chr2:54570911G>A	BC031669, AK097617	CCDS46285.1	2p16.2	2008-07-07			ENSG00000177994	ENSG00000177994			26861	protein-coding gene	gene with protein product						14702039	Standard	NM_001100396		Approved	FLJ40298	uc002rxt.1	Q8N5S3	OTTHUMG00000151826	ENST00000398634.2:c.289G>A	2.37:g.54570911G>A	ENSP00000381631:p.Asp97Asn					C2orf73_ENST00000491538.1_Intron|C2orf73_ENST00000405749.1_Missense_Mutation_p.D39N	p.D97N	NM_001100396.1	NP_001093866.1	Q8N5S3	CB073_HUMAN			3	331	+			97					A0AV79|A0AV81|Q8N7V4	Missense_Mutation	SNP	ENST00000398634.2	37	c.289G>A	CCDS46285.1	.	.	.	.	.	.	.	.	.	.	G	24.1	4.496130	0.85069	.	.	ENSG00000177994	ENST00000486488;ENST00000405749;ENST00000398634;ENST00000447328	T;T;T;T	0.39056	1.1;1.1;1.1;1.1	5.55	5.55	0.83447	.	0.000000	0.64402	D	0.000002	T	0.64483	0.2602	M	0.71581	2.175	0.43430	D	0.99559	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.63910	-0.6530	10	0.54805	T	0.06	-12.932	16.5309	0.84359	0.0:0.0:1.0:0.0	.	39;97	B7ZM12;Q8N5S3	.;CB073_HUMAN	N	103;39;97;39	ENSP00000417971:D103N;ENSP00000385348:D39N;ENSP00000381631:D97N;ENSP00000389570:D39N	ENSP00000381631:D97N	D	+	1	0	C2orf73	54424415	1.000000	0.71417	1.000000	0.80357	0.805000	0.45488	3.501000	0.53325	2.885000	0.99019	0.655000	0.94253	GAC		0.448	C2orf73-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324075.2	NM_001100396		15	27	0	0	0	1	0	15	27					A	54570911	G	A	54570911	3	1	435	1	0	0	0	0	1	0	0	0	2192	1058	37	2	299	2	C2orf73	2	54570911	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	87750	54570911	188628462	1086	22011											
C2orf73	129852	broad.mit.edu	37	chr2	54570996	54570996	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acacagcaagatgcaaaagcCttcttgtggaataggtaagg	15	8	11	7	0	1	1	0	0	1	1	1	2	1	2	1	3	3	3	1	3	6	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:54570996C>A	ENST00000398634.2	+	3	416	c.374C>A	c.(373-375)cCt>cAt	p.P125H	C2orf73_ENST00000405749.1_Missense_Mutation_p.P67H|C2orf73_ENST00000491538.1_Intron	NM_001100396.1	NP_001093866.1	Q8N5S3	CB073_HUMAN	chromosome 2 open reading frame 73	125										breast(2)	2						ATGCAAAAGCCTTCTTGTGGA	0.418																																						ENST00000398634.2																			0				breast(2)	2						c.(373-375)cCt>cAt		chromosome 2 open reading frame 73							55	57	56					2																	54570996		1872	4089	5961	SO:0001583	missense	129852							g.chr2:54570996C>A	BC031669, AK097617	CCDS46285.1	2p16.2	2008-07-07			ENSG00000177994	ENSG00000177994			26861	protein-coding gene	gene with protein product						14702039	Standard	NM_001100396		Approved	FLJ40298	uc002rxt.1	Q8N5S3	OTTHUMG00000151826	ENST00000398634.2:c.374C>A	2.37:g.54570996C>A	ENSP00000381631:p.Pro125His					C2orf73_ENST00000491538.1_Intron|C2orf73_ENST00000405749.1_Missense_Mutation_p.P67H	p.P125H	NM_001100396.1	NP_001093866.1	Q8N5S3	CB073_HUMAN			3	416	+			125					A0AV79|A0AV81|Q8N7V4	Missense_Mutation	SNP	ENST00000398634.2	37	c.374C>A	CCDS46285.1	.	.	.	.	.	.	.	.	.	.	C	13.59	2.283090	0.40394	.	.	ENSG00000177994	ENST00000486488;ENST00000405749;ENST00000398634;ENST00000447328	T;T;T;T	0.38077	1.16;1.16;1.16;1.16	5.46	5.46	0.80206	.	0.280312	0.29846	N	0.011052	T	0.59702	0.2213	M	0.70275	2.135	0.44302	D	0.997177	D;D	0.89917	1.0;1.0	D;D	0.74348	0.983;0.983	T	0.59700	-0.7405	10	0.59425	D	0.04	-16.424	16.3236	0.82964	0.0:1.0:0.0:0.0	.	67;125	B7ZM12;Q8N5S3	.;CB073_HUMAN	H	131;67;125;67	ENSP00000417971:P131H;ENSP00000385348:P67H;ENSP00000381631:P125H;ENSP00000389570:P67H	ENSP00000381631:P125H	P	+	2	0	C2orf73	54424500	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	3.972000	0.56838	2.838000	0.97847	0.591000	0.81541	CCT		0.418	C2orf73-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324075.2	NM_001100396		17	22	1	0	3.52763e-06	1	3.66169e-06	17	22					A	54570996	C	A	54570996	3	1	435	1	0	0	0	0	1	0	0	0	2192	681	24	5	384	5	C2orf73	2	54570996	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	85	54570996	188628377	1087	22012											
SPTBN1	6711	broad.mit.edu	37	chr2	54848567	54848567	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ggaccatcctgatgagaagtCcataatcacttatgtggtga	12	11	10	8	0	1	3	1	3	0	1	3	5	3	4	3	2	0	0	3	2	3	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:54848567C>T	ENST00000356805.4	+	8	1075	c.794C>T	c.(793-795)tCc>tTc	p.S265F	SPTBN1_ENST00000333896.5_Missense_Mutation_p.S252F	NM_003128.2	NP_003119.2	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1	265	Actin-binding.|CH 2. {ECO:0000255|PROSITE- ProRule:PRU00044}.				actin filament capping (GO:0051693)|axon guidance (GO:0007411)|Golgi to plasma membrane protein transport (GO:0043001)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|plasma membrane organization (GO:0007009)|protein targeting to plasma membrane (GO:0072661)	axolemma (GO:0030673)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|protein complex (GO:0043234)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin binding (GO:0003779)|ankyrin binding (GO:0030506)|phospholipid binding (GO:0005543)|poly(A) RNA binding (GO:0044822)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	82			Lung(47;0.24)			GATGAGAAGTCCATAATCACT	0.458																																						ENST00000333896.5																			0				NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	82						c.(754-756)tCc>tTc		spectrin, beta, non-erythrocytic 1							169	148	155					2																	54848567		2203	4300	6503	SO:0001583	missense	0				actin filament capping|axon guidance	cytosol|nucleolus|plasma membrane|sarcomere|spectrin	actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton	g.chr2:54848567C>T		CCDS33198.1, CCDS33199.1	2p21	2013-01-10			ENSG00000115306	ENSG00000115306		"Pleckstrin homology (PH) domain containing"	11275	protein-coding gene	gene with protein product		182790					Standard	NM_003128		Approved		uc002rxu.3	Q01082	OTTHUMG00000133746	ENST00000356805.4:c.794C>T	2.37:g.54848567C>T	ENSP00000349259:p.Ser265Phe					SPTBN1_ENST00000356805.4_Missense_Mutation_p.S265F	p.S252F	NM_178313.2	NP_842565.2	Q01082	SPTB2_HUMAN	Lung(47;0.24)		7	1140	+			265			Actin-binding.|CH 2.		B2RP63|O60837|Q16057|Q53R99|Q59ER3|Q8IX99	Missense_Mutation	SNP	ENST00000356805.4	37	c.755C>T	CCDS33198.1	.	.	.	.	.	.	.	.	.	.	C	34	5.309323	0.95629	.	.	ENSG00000115306	ENST00000356805;ENST00000389980;ENST00000333896	T;T;D	0.96265	-0.14;-0.14;-3.96	5.83	5.83	0.93111	Calponin homology domain (5);	0.000000	0.85682	D	0.000000	D	0.99180	0.9716	H	0.99573	4.635	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.998;1.0	D	0.98591	1.0654	10	0.66056	D	0.02	.	20.1184	0.97949	0.0:1.0:0.0:0.0	.	252;265	Q01082-3;Q01082	.;SPTB2_HUMAN	F	265;265;252	ENSP00000349259:S265F;ENSP00000374630:S265F;ENSP00000334156:S252F	ENSP00000334156:S252F	S	+	2	0	SPTBN1	54702071	1.000000	0.71417	0.995000	0.50966	0.994000	0.84299	7.770000	0.85390	2.769000	0.95229	0.655000	0.94253	TCC		0.458	SPTBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258115.3			21	35	0	0	0	1	0	21	35					T	54848567	C	T	54848567	3	4	435	1	0	0	0	0	1	0	0	0	15118	855	30	3	933	3	SPTBN1	2	54848567	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	277571	54848567	188350806	1088	22013											
SPTBN1	6711	broad.mit.edu	37	chr2	54856594	54856594	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccagcagcgacgtgggccacGatgagtattccacacagtct	10	7	11	13	3	1	1	0	1	1	0	2	3	2	1	3	1	2	2	3	1	1	2	rs1804471		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:54856594G>A	ENST00000356805.4	+	14	2604	c.2323G>A	c.(2323-2325)Gat>Aat	p.D775N	SPTBN1_ENST00000333896.5_Missense_Mutation_p.D762N	NM_003128.2	NP_003119.2	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1	775					actin filament capping (GO:0051693)|axon guidance (GO:0007411)|Golgi to plasma membrane protein transport (GO:0043001)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|plasma membrane organization (GO:0007009)|protein targeting to plasma membrane (GO:0072661)	axolemma (GO:0030673)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|protein complex (GO:0043234)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin binding (GO:0003779)|ankyrin binding (GO:0030506)|phospholipid binding (GO:0005543)|poly(A) RNA binding (GO:0044822)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	82			Lung(47;0.24)			CGTGGGCCACGATGAGTATTC	0.562																																						ENST00000333896.5																			0				NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	82						c.(2284-2286)Gat>Aat		spectrin, beta, non-erythrocytic 1							86	86	86					2																	54856594		2203	4300	6503	SO:0001583	missense	0				actin filament capping|axon guidance	cytosol|nucleolus|plasma membrane|sarcomere|spectrin	actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton	g.chr2:54856594G>A		CCDS33198.1, CCDS33199.1	2p21	2013-01-10			ENSG00000115306	ENSG00000115306		"Pleckstrin homology (PH) domain containing"	11275	protein-coding gene	gene with protein product		182790					Standard	NM_003128		Approved		uc002rxu.3	Q01082	OTTHUMG00000133746	ENST00000356805.4:c.2323G>A	2.37:g.54856594G>A	ENSP00000349259:p.Asp775Asn					SPTBN1_ENST00000356805.4_Missense_Mutation_p.D775N	p.D762N	NM_178313.2	NP_842565.2	Q01082	SPTB2_HUMAN	Lung(47;0.24)		13	2669	+			775					B2RP63|O60837|Q16057|Q53R99|Q59ER3|Q8IX99	Missense_Mutation	SNP	ENST00000356805.4	37	c.2284G>A	CCDS33198.1	.	.	.	.	.	.	.	.	.	.	G	24.5	4.541107	0.85917	.	.	ENSG00000115306	ENST00000356805;ENST00000333896	T;T	0.58060	0.85;0.36	5.37	5.37	0.77165	.	0.047919	0.85682	D	0.000000	T	0.77857	0.4193	M	0.87328	2.875	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.969;0.998	T	0.81448	-0.0928	10	0.87932	D	0	.	19.4802	0.95007	0.0:0.0:1.0:0.0	.	762;775	Q01082-3;Q01082	.;SPTB2_HUMAN	N	775;762	ENSP00000349259:D775N;ENSP00000334156:D762N	ENSP00000334156:D762N	D	+	1	0	SPTBN1	54710098	1.000000	0.71417	0.989000	0.46669	0.530000	0.34684	9.751000	0.98889	2.692000	0.91855	0.655000	0.94253	GAT		0.562	SPTBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258115.3			34	26	0	0	0	1	0	34	26					A	54856594	G	A	54856594	3	1	435	1	0	0	0	0	1	0	0	0	15118	1058	37	2	2486	2	SPTBN1	2	54856594	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	8027	54856594	188342779	1089	22014											
SPTBN1	6711	broad.mit.edu	37	chr2	54858170	54858170	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctggcgtcatggccctgcagCgcaagctgaccggcatggag	7	6	15	13	3	1	1	1	1	0	0	1	2	1	2	2	4	3	4	2	4	1	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:54858170C>T	ENST00000356805.4	+	16	3267	c.2986C>T	c.(2986-2988)Cgc>Tgc	p.R996C	SPTBN1_ENST00000333896.5_Missense_Mutation_p.R983C	NM_003128.2	NP_003119.2	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1	996					actin filament capping (GO:0051693)|axon guidance (GO:0007411)|Golgi to plasma membrane protein transport (GO:0043001)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|plasma membrane organization (GO:0007009)|protein targeting to plasma membrane (GO:0072661)	axolemma (GO:0030673)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|protein complex (GO:0043234)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin binding (GO:0003779)|ankyrin binding (GO:0030506)|phospholipid binding (GO:0005543)|poly(A) RNA binding (GO:0044822)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	82			Lung(47;0.24)			GGCCCTGCAGCGCAAGCTGAC	0.602																																						ENST00000333896.5																			0				NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	82						c.(2947-2949)Cgc>Tgc		spectrin, beta, non-erythrocytic 1							56	62	60					2																	54858170		2203	4300	6503	SO:0001583	missense	0				actin filament capping|axon guidance	cytosol|nucleolus|plasma membrane|sarcomere|spectrin	actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton	g.chr2:54858170C>T		CCDS33198.1, CCDS33199.1	2p21	2013-01-10			ENSG00000115306	ENSG00000115306		"Pleckstrin homology (PH) domain containing"	11275	protein-coding gene	gene with protein product		182790					Standard	NM_003128		Approved		uc002rxu.3	Q01082	OTTHUMG00000133746	ENST00000356805.4:c.2986C>T	2.37:g.54858170C>T	ENSP00000349259:p.Arg996Cys					SPTBN1_ENST00000356805.4_Missense_Mutation_p.R996C	p.R983C	NM_178313.2	NP_842565.2	Q01082	SPTB2_HUMAN	Lung(47;0.24)		15	3332	+			996					B2RP63|O60837|Q16057|Q53R99|Q59ER3|Q8IX99	Missense_Mutation	SNP	ENST00000356805.4	37	c.2947C>T	CCDS33198.1	.	.	.	.	.	.	.	.	.	.	C	18.31	3.596106	0.66332	.	.	ENSG00000115306	ENST00000356805;ENST00000333896	T;T	0.52983	0.64;0.64	5.28	4.32	0.51571	.	0.060371	0.64402	D	0.000008	T	0.73946	0.3652	M	0.92923	3.36	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.80169	-0.1494	10	0.72032	D	0.01	.	12.8386	0.57788	0.3122:0.6878:0.0:0.0	.	983;996	Q01082-3;Q01082	.;SPTB2_HUMAN	C	996;983	ENSP00000349259:R996C;ENSP00000334156:R983C	ENSP00000334156:R983C	R	+	1	0	SPTBN1	54711674	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.194000	0.32174	2.479000	0.83701	0.655000	0.94253	CGC		0.602	SPTBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258115.3			10	18	0	0	0	1	0	10	18					T	54858170	C	T	54858170	3	4	435	1	0	0	0	0	1	0	0	0	15118	768	27	1	3157	1	SPTBN1	2	54858170	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	1576	54858170	188341203	1090	22015											
RTN4	57142	broad.mit.edu	37	chr2	55254135	55254135	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctcttttcattaaaactgTcttttgctttttctgaagac	8	20	4	9	0	4	2	1	1	3	1	5	2	4	2	0	0	2	1	0	0	3	7			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:55254135T>A	ENST00000337526.6	-	3	1343	c.1100A>T	c.(1099-1101)gAc>gTc	p.D367V	RTN4_ENST00000404909.1_Missense_Mutation_p.D161V|RTN4_ENST00000405240.1_Missense_Mutation_p.D161V|RTN4_ENST00000357376.3_Missense_Mutation_p.D161V|RTN4_ENST00000354474.6_Missense_Mutation_p.D135V|RTN4_ENST00000394611.2_Missense_Mutation_p.D161V|RTN4_ENST00000402434.2_Intron|RTN4_ENST00000317610.7_Intron|RTN4_ENST00000357732.4_Intron	NM_020532.4	NP_065393.1	Q9NQC3	RTN4_HUMAN	reticulon 4	367					angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|axonal fasciculation (GO:0007413)|cardiac epithelial to mesenchymal transition (GO:0060317)|cerebral cortex radial glia guided migration (GO:0021801)|endoplasmic reticulum tubular network organization (GO:0071786)|negative regulation of axon extension (GO:0030517)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell growth (GO:0030308)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of apoptotic process (GO:0042981)|regulation of axonogenesis (GO:0050770)|regulation of branching morphogenesis of a nerve (GO:2000172)|regulation of cell migration (GO:0030334)	cell projection (GO:0042995)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of endoplasmic reticulum membrane (GO:0030176)|intracellular (GO:0005622)|neuronal cell body (GO:0043025)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|prostate(1)|skin(1)|stomach(1)	36						ATTAAAACTGTCTTTTGCTTT	0.363																																						ENST00000337526.6																			0				NS(2)|breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|prostate(1)|skin(1)|stomach(1)	36						c.(1099-1101)gAc>gTc		reticulon 4							128	128	128					2																	55254135		2203	4299	6502	SO:0001583	missense	57142				apoptosis|axonal fasciculation|cerebral cortex radial glia guided migration|endoplasmic reticulum tubular network organization|negative regulation of anti-apoptosis|negative regulation of axon extension|nerve growth factor receptor signaling pathway|regulation of apoptosis|regulation of branching morphogenesis of a nerve|regulation of cell migration	integral to endoplasmic reticulum membrane|nuclear envelope|plasma membrane	protein binding	g.chr2:55254135T>A	AF087901	CCDS1851.1, CCDS1852.1, CCDS42683.1, CCDS42684.1, CCDS42685.1	2p14-p13	2008-05-23			ENSG00000115310	ENSG00000115310			14085	protein-coding gene	gene with protein product		604475				10667797, 10773680	Standard	NM_020532		Approved	NSP-CL, KIAA0886, NOGO, ASY	uc002rye.3	Q9NQC3	OTTHUMG00000129337	ENST00000337526.6:c.1100A>T	2.37:g.55254135T>A	ENSP00000337838:p.Asp367Val					RTN4_ENST00000394611.2_Missense_Mutation_p.D161V|RTN4_ENST00000405240.1_Missense_Mutation_p.D161V|RTN4_ENST00000404909.1_Missense_Mutation_p.D161V|RTN4_ENST00000357376.3_Missense_Mutation_p.D161V|RTN4_ENST00000317610.7_Intron|RTN4_ENST00000354474.6_Missense_Mutation_p.D135V|RTN4_ENST00000357732.4_Intron|RTN4_ENST00000402434.2_Intron	p.D367V	NM_020532.4	NP_065393.1	Q9NQC3	RTN4_HUMAN			3	1343	-			367					O94962|Q7L7Q5|Q7L7Q6|Q7L7Q8|Q8IUA4|Q96B16|Q9BXG5|Q9H212|Q9H3I3|Q9UQ42|Q9Y293|Q9Y2Y7|Q9Y5U6	Missense_Mutation	SNP	ENST00000337526.6	37	c.1100A>T	CCDS42684.1	.	.	.	.	.	.	.	.	.	.	T	12.48	1.951237	0.34471	.	.	ENSG00000115310	ENST00000405240;ENST00000357376;ENST00000337526;ENST00000394611;ENST00000404909;ENST00000354474	T;T;T;T;T;T	0.25085	1.82;1.82;2.3;1.82;1.82;1.85	5.99	2.29	0.28610	.	1.825090	0.01954	N	0.042843	T	0.47040	0.1424	L	0.60455	1.87	0.09310	N	0.999998	D	0.89917	1.0	D	0.69307	0.963	T	0.04281	-1.0963	10	0.87932	D	0	-3.5154	5.9641	0.19315	0.0:0.263:0.1259:0.6111	.	367	Q9NQC3	RTN4_HUMAN	V	161;161;367;161;161;135	ENSP00000384471:D161V;ENSP00000349944:D161V;ENSP00000337838:D367V;ENSP00000378109:D161V;ENSP00000385650:D161V;ENSP00000346465:D135V	ENSP00000337838:D367V	D	-	2	0	RTN4	55107639	0.006000	0.16342	0.706000	0.30403	0.605000	0.37080	1.135000	0.31454	0.156000	0.19299	0.528000	0.53228	GAC		0.363	RTN4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251484.1			31	46	0	0	0	1	0	31	46					A	55254135	T	A	55254135	3	1	435	1	0	0	0	0	1	0	0	0	13728	1667	58	5	2544	5	RTN4	2	55254135	Missense_Mutation	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	395965	55254135	187945238	1091	22016											
RTN4	57142	broad.mit.edu	37	chr2	55277340	55277340	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ctcctcttcttcctcctcgtCctcgggctccctcacgaact	3	13	5	20	3	3	0	1	0	2	0	10	1	8	0	5	1	1	1	5	1	1	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:55277340C>T	ENST00000337526.6	-	1	340	c.97G>A	c.(97-99)Gac>Aac	p.D33N	RTN4_ENST00000404909.1_Intron|RTN4_ENST00000357376.3_5'Flank|RTN4_ENST00000354474.6_Missense_Mutation_p.D33N|RTN4_ENST00000394611.2_Intron|RTN4_ENST00000402434.2_Missense_Mutation_p.D5N|RTN4_ENST00000317610.7_Missense_Mutation_p.D33N|RTN4_ENST00000357732.4_Missense_Mutation_p.D33N	NM_020532.4	NP_065393.1	Q9NQC3	RTN4_HUMAN	reticulon 4	33	Poly-Glu.				angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|axonal fasciculation (GO:0007413)|cardiac epithelial to mesenchymal transition (GO:0060317)|cerebral cortex radial glia guided migration (GO:0021801)|endoplasmic reticulum tubular network organization (GO:0071786)|negative regulation of axon extension (GO:0030517)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell growth (GO:0030308)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of apoptotic process (GO:0042981)|regulation of axonogenesis (GO:0050770)|regulation of branching morphogenesis of a nerve (GO:2000172)|regulation of cell migration (GO:0030334)	cell projection (GO:0042995)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of endoplasmic reticulum membrane (GO:0030176)|intracellular (GO:0005622)|neuronal cell body (GO:0043025)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|prostate(1)|skin(1)|stomach(1)	36						tcctcctcgtcctcGGGCTCC	0.667																																						ENST00000337526.6																			0				NS(2)|breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|prostate(1)|skin(1)|stomach(1)	36						c.(97-99)Gac>Aac		reticulon 4							9	13	11					2																	55277340		2103	4100	6203	SO:0001583	missense	57142				apoptosis|axonal fasciculation|cerebral cortex radial glia guided migration|endoplasmic reticulum tubular network organization|negative regulation of anti-apoptosis|negative regulation of axon extension|nerve growth factor receptor signaling pathway|regulation of apoptosis|regulation of branching morphogenesis of a nerve|regulation of cell migration	integral to endoplasmic reticulum membrane|nuclear envelope|plasma membrane	protein binding	g.chr2:55277340C>T	AF087901	CCDS1851.1, CCDS1852.1, CCDS42683.1, CCDS42684.1, CCDS42685.1	2p14-p13	2008-05-23			ENSG00000115310	ENSG00000115310			14085	protein-coding gene	gene with protein product		604475				10667797, 10773680	Standard	NM_020532		Approved	NSP-CL, KIAA0886, NOGO, ASY	uc002rye.3	Q9NQC3	OTTHUMG00000129337	ENST00000337526.6:c.97G>A	2.37:g.55277340C>T	ENSP00000337838:p.Asp33Asn					RTN4_ENST00000394611.2_Intron|RTN4_ENST00000404909.1_Intron|RTN4_ENST00000317610.7_Missense_Mutation_p.D33N|RTN4_ENST00000354474.6_Missense_Mutation_p.D33N|RTN4_ENST00000357732.4_Missense_Mutation_p.D33N|RTN4_ENST00000402434.2_Missense_Mutation_p.D5N	p.D33N	NM_020532.4	NP_065393.1	Q9NQC3	RTN4_HUMAN			1	340	-			33			Poly-Glu.		O94962|Q7L7Q5|Q7L7Q6|Q7L7Q8|Q8IUA4|Q96B16|Q9BXG5|Q9H212|Q9H3I3|Q9UQ42|Q9Y293|Q9Y2Y7|Q9Y5U6	Missense_Mutation	SNP	ENST00000337526.6	37	c.97G>A	CCDS42684.1	.	.	.	.	.	.	.	.	.	.	C	16.05	3.013644	0.54468	.	.	ENSG00000115310	ENST00000337526;ENST00000317610;ENST00000357732;ENST00000402434;ENST00000354474	T;T;T;T;T	0.24723	1.84;1.84;1.84;1.84;1.84	3.96	3.96	0.45880	.	.	.	.	.	T	0.26882	0.0658	L	0.29908	0.895	0.23095	N	0.998301	P;P;P	0.49961	0.884;0.93;0.761	B;P;B	0.49683	0.414;0.619;0.173	T	0.05852	-1.0860	9	0.46703	T	0.11	-7.9574	11.3597	0.49636	0.0:1.0:0.0:0.0	.	33;33;33	Q7L7Q6;Q9NQC3-5;Q9NQC3	.;.;RTN4_HUMAN	N	33;33;33;5;33	ENSP00000337838:D33N;ENSP00000322147:D33N;ENSP00000350365:D33N;ENSP00000384825:D5N;ENSP00000346465:D33N	ENSP00000322147:D33N	D	-	1	0	RTN4	55130844	1.000000	0.71417	1.000000	0.80357	0.516000	0.34256	1.867000	0.39499	2.028000	0.59812	0.563000	0.77884	GAC		0.667	RTN4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251484.1			3	2	0	0	0	1	0	3	2					T	55277340	C	T	55277340	3	4	435	1	0	0	0	0	1	0	0	0	13728	855	30	3	3555	3	RTN4	2	55277340	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	23205	55277340	187922033	1092	22017											
MTIF2	4528	broad.mit.edu	37	chr2	55481258	55481258	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgaaatttgtcaagtaatgTcgttttcccgtgatcaacat	11	15	7	8	3	2	1	2	1	0	0	5	2	3	1	1	0	1	2	1	0	4	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:55481258T>C	ENST00000263629.4	-	7	898	c.583A>G	c.(583-585)Aca>Gca	p.T195A	MTIF2_ENST00000403721.1_Missense_Mutation_p.T195A|MTIF2_ENST00000394600.3_Missense_Mutation_p.T195A|MTIF2_ENST00000446660.1_5'Flank	NM_002453.2	NP_002444.2	P46199	IF2M_HUMAN	mitochondrial translational initiation factor 2	195	tr-type G.				formation of translation initiation complex (GO:0001732)|regulation of translational initiation (GO:0006446)|ribosome disassembly (GO:0032790)	mitochondrion (GO:0005739)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|ribosomal small subunit binding (GO:0043024)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	24						TCAAGTAATGTCGTTTTCCCG	0.443																																						ENST00000394600.3																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	24						c.(583-585)Aca>Gca		mitochondrial translational initiation factor 2							114	101	106					2																	55481258		2203	4300	6503	SO:0001583	missense	4528				regulation of translational initiation	mitochondrion	GTP binding|GTPase activity|ribosomal small subunit binding|translation initiation factor activity	g.chr2:55481258T>C	L34600	CCDS1853.1	2p16.1	2008-02-05			ENSG00000085760	ENSG00000085760			7441	protein-coding gene	gene with protein product		603766				9925935, 7829522	Standard	XM_005264335		Approved	IF-2mt	uc002ryo.3	P46199	OTTHUMG00000129338	ENST00000263629.4:c.583A>G	2.37:g.55481258T>C	ENSP00000263629:p.Thr195Ala					MTIF2_ENST00000263629.4_Missense_Mutation_p.T195A|MTIF2_ENST00000403721.1_Missense_Mutation_p.T195A	p.T195A	NM_001005369.1	NP_001005369.1	P46199	IF2M_HUMAN			8	1319	-			195			G-domain.		D6W5D0	Missense_Mutation	SNP	ENST00000263629.4	37	c.583A>G	CCDS1853.1	.	.	.	.	.	.	.	.	.	.	T	33	5.199340	0.94997	.	.	ENSG00000085760	ENST00000403721;ENST00000263629;ENST00000394600;ENST00000535023	T;T;T	0.69806	-0.43;-0.43;-0.43	5.76	5.76	0.90799	Small GTP-binding protein domain (1);Protein synthesis factor, GTP-binding (1);	0.000000	0.85682	D	0.000000	T	0.78836	0.4346	M	0.76328	2.33	0.80722	D	1	P	0.46784	0.884	P	0.55749	0.783	T	0.81433	-0.0935	10	0.87932	D	0	-13.1424	16.0767	0.80974	0.0:0.0:0.0:1.0	.	195	P46199	IF2M_HUMAN	A	195	ENSP00000384481:T195A;ENSP00000263629:T195A;ENSP00000378099:T195A	ENSP00000263629:T195A	T	-	1	0	MTIF2	55334762	1.000000	0.71417	0.973000	0.42090	0.992000	0.81027	6.160000	0.71862	2.197000	0.70478	0.533000	0.62120	ACA		0.443	MTIF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251486.4	NM_002453		4	84	0	0	0	1	0	4	84					C	55481258	T	C	55481258	3	2	435	1	0	0	0	0	1	0	0	0	9934	1667	58	4	1640	4	MTIF2	2	55481258	Missense_Mutation	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	203918	55481258	187718115	1093	22018											
BCL11A	53335	broad.mit.edu	37	chr2	60688246	60688246	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagccgcggccattaacagTgccatcgtctatgcggtccg	7	8	12	14	5	1	0	0	0	1	0	3	0	2	0	4	2	4	1	4	2	2	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:60688246T>C	ENST00000335712.6	-	4	2028	c.1801A>G	c.(1801-1803)Act>Gct	p.T601A	BCL11A_ENST00000359629.5_Intron|BCL11A_ENST00000356842.4_Missense_Mutation_p.T601A|BCL11A_ENST00000537768.1_Missense_Mutation_p.T270A|BCL11A_ENST00000358510.4_Missense_Mutation_p.T567A|BCL11A_ENST00000538214.1_Missense_Mutation_p.T567A|BCL11A_ENST00000477659.1_5'UTR	NM_022893.3	NP_075044.2	Q9H165	BC11A_HUMAN	B-cell CLL/lymphoma 11A (zinc finger protein)	601					B cell differentiation (GO:0030183)|negative regulation of axon extension (GO:0030517)|negative regulation of collateral sprouting (GO:0048671)|negative regulation of dendrite development (GO:2000171)|negative regulation of neuron projection development (GO:0010977)|negative regulation of protein homooligomerization (GO:0032463)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of collateral sprouting (GO:0048672)|positive regulation of neuron projection development (GO:0010976)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein sumoylation (GO:0016925)|regulation of dendrite development (GO:0050773)|T cell differentiation (GO:0030217)	cytoplasm (GO:0005737)|nuclear body (GO:0016604)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|transcription corepressor activity (GO:0003714)			NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	59			LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)			CCATTAACAGTGCCATCGTCT	0.677			T	IGH@	B-CLL																																	ENST00000335712.6				Dom	yes		2	2p13	53335	T	B-cell CLL/lymphoma 11A			L	IGH@		B-CLL		0				NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	59						c.(1801-1803)Act>Gct		B-cell CLL/lymphoma 11A (zinc finger protein)							19	23	22					2																	60688246		2178	4269	6447	SO:0001583	missense	53335				negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding	g.chr2:60688246T>C	AJ404611	CCDS1861.1, CCDS1862.1, CCDS46295.1	2p16.1	2013-01-08	2002-05-08		ENSG00000119866	ENSG00000119866		"Zinc fingers, C2H2-type"	13221	protein-coding gene	gene with protein product		606557	"ecotropic viral integration site 9"	EVI9		11719382, 18245381	Standard	NM_018014		Approved	BCL11A-XL, BCL11A-L, BCL11A-S, CTIP1, HBFQTL5, ZNF856	uc002sae.1	Q9H165	OTTHUMG00000129420	ENST00000335712.6:c.1801A>G	2.37:g.60688246T>C	ENSP00000338774:p.Thr601Ala					BCL11A_ENST00000537768.1_Missense_Mutation_p.T270A|BCL11A_ENST00000356842.4_Missense_Mutation_p.T601A|BCL11A_ENST00000359629.5_Intron|BCL11A_ENST00000477659.1_5'UTR|BCL11A_ENST00000358510.4_Missense_Mutation_p.T567A|BCL11A_ENST00000538214.1_Missense_Mutation_p.T567A	p.T601A	NM_022893.3	NP_075044.2	Q9H165	BC11A_HUMAN	LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)		4	2028	-			601					D6W5D7|Q86W14|Q8WU92|Q96JL6|Q9H163|Q9H164|Q9H3G9|Q9NWA7	Missense_Mutation	SNP	ENST00000335712.6	37	c.1801A>G	CCDS1862.1	.	.	.	.	.	.	.	.	.	.	T	3.465	-0.109101	0.06924	.	.	ENSG00000119866	ENST00000356842;ENST00000378117;ENST00000538214;ENST00000537768;ENST00000335712;ENST00000358510	T;T;T;T;T	0.08282	3.11;3.4;3.28;3.43;3.34	6.01	3.7	0.42460	.	0.218737	0.39759	N	0.001274	T	0.04363	0.0120	N	0.16478	0.41	0.31505	N	0.664284	B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0	B;B;B;B;B	0.06405	0.002;0.0;0.0;0.001;0.002	T	0.24297	-1.0164	10	0.11485	T	0.65	-1.3611	7.5351	0.27706	0.0:0.1748:0.0:0.8252	.	567;270;567;601;601	F5H2Y4;B4DT16;Q9H165-6;Q9H165;D9YZV9	.;.;.;BC11A_HUMAN;.	A	601;626;567;270;601;567	ENSP00000349300:T601A;ENSP00000438303:T567A;ENSP00000443712:T270A;ENSP00000338774:T601A;ENSP00000351307:T567A	ENSP00000338774:T601A	T	-	1	0	BCL11A	60541750	0.931000	0.31567	1.000000	0.80357	0.999000	0.98932	0.335000	0.19806	2.307000	0.77673	0.528000	0.53228	ACT		0.677	BCL11A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251579.2	NM_022893		15	18	0	0	0	1	0	15	18					C	60688246	T	C	60688246	3	2	435	1	0	0	0	0	1	0	0	0	1363	1696	59	4	816	4	BCL11A	2	60688246	Missense_Mutation	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	5206988	60688246	182511127	1094	22019											
BCL11A	53335	broad.mit.edu	37	chr2	60689317	60689317	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ctctctcgatactgatcctgGtattcttagcaggttaaagg	9	14	9	9	1	2	1	0	1	2	0	5	2	3	1	1	3	2	3	1	3	5	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:60689317G>A	ENST00000335712.6	-	4	957	c.730C>T	c.(730-732)Cca>Tca	p.P244S	BCL11A_ENST00000359629.5_Intron|BCL11A_ENST00000356842.4_Missense_Mutation_p.P244S|BCL11A_ENST00000537768.1_Intron|BCL11A_ENST00000358510.4_Missense_Mutation_p.P210S|BCL11A_ENST00000538214.1_Missense_Mutation_p.P210S|BCL11A_ENST00000477659.1_5'UTR	NM_022893.3	NP_075044.2	Q9H165	BC11A_HUMAN	B-cell CLL/lymphoma 11A (zinc finger protein)	244					B cell differentiation (GO:0030183)|negative regulation of axon extension (GO:0030517)|negative regulation of collateral sprouting (GO:0048671)|negative regulation of dendrite development (GO:2000171)|negative regulation of neuron projection development (GO:0010977)|negative regulation of protein homooligomerization (GO:0032463)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of collateral sprouting (GO:0048672)|positive regulation of neuron projection development (GO:0010976)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein sumoylation (GO:0016925)|regulation of dendrite development (GO:0050773)|T cell differentiation (GO:0030217)	cytoplasm (GO:0005737)|nuclear body (GO:0016604)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|transcription corepressor activity (GO:0003714)			NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	59			LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)			ACTGATCCTGGTATTCTTAGC	0.542			T	IGH@	B-CLL																																	ENST00000335712.6				Dom	yes		2	2p13	53335	T	B-cell CLL/lymphoma 11A			L	IGH@		B-CLL		0				NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	59						c.(730-732)Cca>Tca		B-cell CLL/lymphoma 11A (zinc finger protein)							84	82	83					2																	60689317		2203	4300	6503	SO:0001583	missense	53335				negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding	g.chr2:60689317G>A	AJ404611	CCDS1861.1, CCDS1862.1, CCDS46295.1	2p16.1	2013-01-08	2002-05-08		ENSG00000119866	ENSG00000119866		"Zinc fingers, C2H2-type"	13221	protein-coding gene	gene with protein product		606557	"ecotropic viral integration site 9"	EVI9		11719382, 18245381	Standard	NM_018014		Approved	BCL11A-XL, BCL11A-L, BCL11A-S, CTIP1, HBFQTL5, ZNF856	uc002sae.1	Q9H165	OTTHUMG00000129420	ENST00000335712.6:c.730C>T	2.37:g.60689317G>A	ENSP00000338774:p.Pro244Ser					BCL11A_ENST00000537768.1_Intron|BCL11A_ENST00000356842.4_Missense_Mutation_p.P244S|BCL11A_ENST00000359629.5_Intron|BCL11A_ENST00000477659.1_5'UTR|BCL11A_ENST00000358510.4_Missense_Mutation_p.P210S|BCL11A_ENST00000538214.1_Missense_Mutation_p.P210S	p.P244S	NM_022893.3	NP_075044.2	Q9H165	BC11A_HUMAN	LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)		4	957	-			244					D6W5D7|Q86W14|Q8WU92|Q96JL6|Q9H163|Q9H164|Q9H3G9|Q9NWA7	Missense_Mutation	SNP	ENST00000335712.6	37	c.730C>T	CCDS1862.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.098711	0.76870	.	.	ENSG00000119866	ENST00000356842;ENST00000378117;ENST00000538214;ENST00000335712;ENST00000358510	T;T;T;T	0.09163	3.01;3.28;3.24;3.21	6.02	6.02	0.97574	.	0.000000	0.85682	D	0.000000	T	0.32224	0.0822	L	0.53249	1.67	0.80722	D	1	P;D;P;P	0.89917	0.619;1.0;0.638;0.638	B;D;B;B	0.83275	0.406;0.996;0.23;0.23	T	0.00085	-1.2097	10	0.52906	T	0.07	-0.8579	20.5407	0.99260	0.0:0.0:1.0:0.0	.	210;210;244;244	F5H2Y4;Q9H165-6;Q9H165;D9YZV9	.;.;BC11A_HUMAN;.	S	244;280;210;244;210	ENSP00000349300:P244S;ENSP00000438303:P210S;ENSP00000338774:P244S;ENSP00000351307:P210S	ENSP00000338774:P244S	P	-	1	0	BCL11A	60542821	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.777000	0.99008	2.865000	0.98341	0.655000	0.94253	CCA		0.542	BCL11A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251579.2	NM_022893		8	15	0	0	0	1	0	8	15					A	60689317	G	A	60689317	3	1	435	1	0	0	0	0	1	0	0	0	1363	1261	44	3	1887	3	BCL11A	2	60689317	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	1071	60689317	182510056	1095	22020											
BCL11A	53335	broad.mit.edu	37	chr2	60695920	60695920	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	caggcgtggggattagagctCcatgtgcagaacgaggggag	10	6	18	7	2	0	2	0	0	0	2	1	5	1	4	1	5	3	2	1	5	2	1	rs148400140		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:60695920C>T	ENST00000335712.6	-	3	661	c.434G>A	c.(433-435)gGa>gAa	p.G145E	BCL11A_ENST00000359629.5_Missense_Mutation_p.G145E|BCL11A_ENST00000356842.4_Missense_Mutation_p.G145E|BCL11A_ENST00000537768.1_5'UTR|BCL11A_ENST00000358510.4_Intron|BCL11A_ENST00000538214.1_Intron|BCL11A_ENST00000477659.1_5'UTR	NM_022893.3	NP_075044.2	Q9H165	BC11A_HUMAN	B-cell CLL/lymphoma 11A (zinc finger protein)	145	Required for nuclear body formation and for SUMO1 recruitment. {ECO:0000250}.				B cell differentiation (GO:0030183)|negative regulation of axon extension (GO:0030517)|negative regulation of collateral sprouting (GO:0048671)|negative regulation of dendrite development (GO:2000171)|negative regulation of neuron projection development (GO:0010977)|negative regulation of protein homooligomerization (GO:0032463)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of collateral sprouting (GO:0048672)|positive regulation of neuron projection development (GO:0010976)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein sumoylation (GO:0016925)|regulation of dendrite development (GO:0050773)|T cell differentiation (GO:0030217)	cytoplasm (GO:0005737)|nuclear body (GO:0016604)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|transcription corepressor activity (GO:0003714)			NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	59			LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)			GATTAGAGCTCCATGTGCAGA	0.468			T	IGH@	B-CLL																																	ENST00000335712.6				Dom	yes		2	2p13	53335	T	B-cell CLL/lymphoma 11A			L	IGH@		B-CLL		0				NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	59						c.(433-435)gGa>gAa		B-cell CLL/lymphoma 11A (zinc finger protein)		C	GLU/GLY,GLU/GLY,GLU/GLY	0,4406		0,0,2203	68	68	68		434,434,434	5.2	1	2	dbSNP_134	68	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	BCL11A	NM_018014.3,NM_022893.3,NM_138559.1	98,98,98	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign,benign,benign	145/774,145/836,145/244	60695920	1,13005	2203	4300	6503	SO:0001583	missense	53335				negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding	g.chr2:60695920C>T	AJ404611	CCDS1861.1, CCDS1862.1, CCDS46295.1	2p16.1	2013-01-08	2002-05-08		ENSG00000119866	ENSG00000119866		"Zinc fingers, C2H2-type"	13221	protein-coding gene	gene with protein product		606557	"ecotropic viral integration site 9"	EVI9		11719382, 18245381	Standard	NM_018014		Approved	BCL11A-XL, BCL11A-L, BCL11A-S, CTIP1, HBFQTL5, ZNF856	uc002sae.1	Q9H165	OTTHUMG00000129420	ENST00000335712.6:c.434G>A	2.37:g.60695920C>T	ENSP00000338774:p.Gly145Glu					BCL11A_ENST00000537768.1_5'UTR|BCL11A_ENST00000356842.4_Missense_Mutation_p.G145E|BCL11A_ENST00000359629.5_Missense_Mutation_p.G145E|BCL11A_ENST00000477659.1_5'UTR|BCL11A_ENST00000358510.4_Intron|BCL11A_ENST00000538214.1_Intron	p.G145E	NM_022893.3	NP_075044.2	Q9H165	BC11A_HUMAN	LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)		3	661	-			145			Required for nuclear body formation and for SUMO1 recruitment (By similarity).		D6W5D7|Q86W14|Q8WU92|Q96JL6|Q9H163|Q9H164|Q9H3G9|Q9NWA7	Missense_Mutation	SNP	ENST00000335712.6	37	c.434G>A	CCDS1862.1	.	.	.	.	.	.	.	.	.	.	C	14.37	2.514584	0.44763	0.0	1.16E-4	ENSG00000119866	ENST00000356842;ENST00000359629;ENST00000378117;ENST00000335712	T;T	0.06849	3.25;3.54	5.21	5.21	0.72293	.	0.524486	0.17985	N	0.155400	T	0.14830	0.0358	L	0.34521	1.04	0.80722	D	1	B;D;B	0.69078	0.0;0.997;0.001	B;D;B	0.70487	0.0;0.969;0.0	T	0.01661	-1.1301	10	0.02654	T	1	-1.3486	14.1117	0.65126	0.0:1.0:0.0:0.0	.	145;145;145	Q9H165;Q9H165-3;D9YZV9	BC11A_HUMAN;.;.	E	145;145;181;145	ENSP00000349300:G145E;ENSP00000338774:G145E	ENSP00000338774:G145E	G	-	2	0	BCL11A	60549424	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.939000	0.56591	2.710000	0.92621	0.591000	0.81541	GGA		0.468	BCL11A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251579.2	NM_022893		11	25	0	0	0	1	0	11	25					T	60695920	C	T	60695920	3	4	435	1	0	0	0	0	1	0	0	0	1363	855	30	3	2187	3	BCL11A	2	60695920	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	6603	60695920	182503453	1096	22021											
PAPOLG	64895	broad.mit.edu	37	chr2	61006774	61006774	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatatattgattttctaggaCgtggtatttattccaacatg	12	17	7	5	1	1	1	0	1	1	0	2	2	2	2	1	2	1	1	1	2	7	10			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:61006774C>T	ENST00000238714.3	+	9	946	c.697C>T	c.(697-699)Cgt>Tgt	p.R233C	PAPOLG_ENST00000483370.1_3'UTR	NM_022894.3	NP_075045.2	Q9BWT3	PAPOG_HUMAN	poly(A) polymerase gamma	233					mRNA polyadenylation (GO:0006378)|RNA polyadenylation (GO:0043631)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|polynucleotide adenylyltransferase activity (GO:0004652)|RNA binding (GO:0003723)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(6)|liver(1)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	35	all_hematologic(2;0.0797)		LUSC - Lung squamous cell carcinoma(5;1.19e-07)|Lung(5;2.86e-06)|Epithelial(17;0.0768)			TTTTCTAGGACGTGGTATTTA	0.373																																					GBM(183;1497 2932 21839 46797)	ENST00000238714.3																			0				breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(6)|liver(1)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	35						c.(697-699)Cgt>Tgt		poly(A) polymerase gamma							110	107	108					2																	61006774		2203	4300	6503	SO:0001583	missense	64895				mRNA processing|RNA polyadenylation|transcription, DNA-dependent	nucleus	ATP binding|metal ion binding|polynucleotide adenylyltransferase activity|RNA binding	g.chr2:61006774C>T	AC012498	CCDS1863.1	2p16.1	2008-02-08			ENSG00000115421	ENSG00000115421	2.7.7.19		14982	protein-coding gene	gene with protein product							Standard	NM_022894		Approved	FLJ12972	uc002sai.3	Q9BWT3	OTTHUMG00000129419	ENST00000238714.3:c.697C>T	2.37:g.61006774C>T	ENSP00000238714:p.Arg233Cys					PAPOLG_ENST00000483370.1_3'UTR	p.R233C	NM_022894.3	NP_075045.2	Q9BWT3	PAPOG_HUMAN	LUSC - Lung squamous cell carcinoma(5;1.19e-07)|Lung(5;2.86e-06)|Epithelial(17;0.0768)		9	946	+	all_hematologic(2;0.0797)		233					B2RBH4|Q59G05|Q969N1|Q9H8L2|Q9HAD0	Missense_Mutation	SNP	ENST00000238714.3	37	c.697C>T	CCDS1863.1	.	.	.	.	.	.	.	.	.	.	C	31	5.082638	0.94050	.	.	ENSG00000115421	ENST00000238714	.	.	.	5.82	5.82	0.92795	Poly(A) polymerase, central domain (1);	0.000000	0.85682	D	0.000000	D	0.86548	0.5959	M	0.92317	3.295	0.80722	D	1	D	0.89917	1.0	D	0.71414	0.973	D	0.88990	0.3414	9	0.87932	D	0	-1.2234	19.6901	0.95998	0.0:1.0:0.0:0.0	.	233	Q9BWT3	PAPOG_HUMAN	C	233	.	ENSP00000238714:R233C	R	+	1	0	PAPOLG	60860278	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	7.743000	0.85020	2.753000	0.94483	0.467000	0.42956	CGT		0.373	PAPOLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251577.3	NM_022894		23	29	0	0	0	1	0	23	29					T	61006774	C	T	61006774	3	4	435	1	0	0	0	0	1	0	0	0	11431	536	19	1	731	1	PAPOLG	2	61006774	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	310854	61006774	182192599	1097	22022											
PUS10	150962	broad.mit.edu	37	chr2	61175289	61175289	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggggccttcggtgaaggacgCgcaaaggtgttttctggtcg	6	10	17	8	4	1	1	0	1	1	0	3	2	1	2	1	6	0	2	1	6	2	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:61175289C>T	ENST00000316752.6	-	16	1601	c.1340G>A	c.(1339-1341)cGc>cAc	p.R447H	PUS10_ENST00000407787.1_Missense_Mutation_p.R447H	NM_144709.2	NP_653310.2	Q3MIT2	PUS10_HUMAN	pseudouridylate synthase 10	447	RNA binding thumb loop. {ECO:0000255}.				pseudouridine synthesis (GO:0001522)|tRNA processing (GO:0008033)		pseudouridine synthase activity (GO:0009982)|RNA binding (GO:0003723)			breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)	22			LUSC - Lung squamous cell carcinoma(5;1.56e-06)|Lung(5;2.48e-05)|Epithelial(17;0.113)			GTGAAGGACGCGCAAAGGTGT	0.527																																						ENST00000316752.6																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)	22						c.(1339-1341)cGc>cAc		pseudouridylate synthase 10							167	166	166					2																	61175289		2203	4300	6503	SO:0001583	missense	150962				pseudouridine synthesis|tRNA processing		pseudouridine synthase activity|RNA binding	g.chr2:61175289C>T	AK056874	CCDS1865.1	2p16.1	2008-02-05	2008-01-09	2008-01-09	ENSG00000162927	ENSG00000162927			26505	protein-coding gene	gene with protein product		612787	"coiled-coil domain containing 139"	CCDC139		17900615	Standard	NM_144709		Approved	FLJ32312	uc002sao.3	Q3MIT2	OTTHUMG00000129423	ENST00000316752.6:c.1340G>A	2.37:g.61175289C>T	ENSP00000326003:p.Arg447His					PUS10_ENST00000407787.1_Missense_Mutation_p.R447H	p.R447H	NM_144709.2	NP_653310.2	Q3MIT2	PUS10_HUMAN	LUSC - Lung squamous cell carcinoma(5;1.56e-06)|Lung(5;2.48e-05)|Epithelial(17;0.113)		16	1601	-			447			RNA binding thumb loop (Potential).		Q5JPJ5|Q96MI8	Missense_Mutation	SNP	ENST00000316752.6	37	c.1340G>A	CCDS1865.1	.	.	.	.	.	.	.	.	.	.	C	35	5.445446	0.96187	.	.	ENSG00000162927	ENST00000316752;ENST00000407787	D;D	0.89270	-2.49;-2.49	6.16	6.16	0.99307	Pseudouridine synthase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.96522	0.8865	H	0.94542	3.55	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.997	D	0.96525	0.9388	10	0.87932	D	0	-1.0415	20.8598	0.99761	0.0:1.0:0.0:0.0	.	447;447	A8K6R4;Q3MIT2	.;PUS10_HUMAN	H	447	ENSP00000326003:R447H;ENSP00000386074:R447H	ENSP00000326003:R447H	R	-	2	0	PUS10	61028793	1.000000	0.71417	0.954000	0.39281	0.814000	0.46013	7.487000	0.81328	2.937000	0.99478	0.650000	0.86243	CGC		0.527	PUS10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251582.2	NM_144709		19	50	0	0	0	1	0	19	50					T	61175289	C	T	61175289	3	4	435	1	0	0	0	0	1	0	0	0	12831	768	27	1	261	1	PUS10	2	61175289	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	168515	61175289	182024084	1098	22023											
USP34	9736	broad.mit.edu	37	chr2	61463362	61463362	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ggaatacaactacacaattgCcacataaatctagaatttaa	19	10	4	8	0	1	1	0	0	1	1	1	2	1	2	1	1	4	0	1	1	10	7			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:61463362C>T	ENST00000398571.2	-	55	6928	c.6852G>A	c.(6850-6852)tgG>tgA	p.W2284*		NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	2284					positive regulation of canonical Wnt signaling pathway (GO:0090263)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|ubiquitin-dependent protein catabolic process (GO:0006511)|Wnt signaling pathway (GO:0016055)		cysteine-type endopeptidase activity (GO:0004197)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)	p.W2284C(1)		autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			TACACAATTGCCACATAAATC	0.269																																						ENST00000398571.2																			1	Substitution - Missense(1)	p.W2284C(1)	lung(1)	autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138						c.(6850-6852)tgG>tgA		ubiquitin specific peptidase 34							39	36	37					2																	61463362		1798	4034	5832	SO:0001587	stop_gained	9736				positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr2:61463362C>T	AB011142	CCDS42686.1	2p16.1-p15	2005-08-08	2005-08-08		ENSG00000115464	ENSG00000115464		"Ubiquitin-specific peptidases"	20066	protein-coding gene	gene with protein product		615295	"ubiquitin specific protease 34"			12838346	Standard	NM_014709		Approved	KIAA0570, KIAA0729	uc002sbe.3	Q70CQ2	OTTHUMG00000152265	ENST00000398571.2:c.6852G>A	2.37:g.61463362C>T	ENSP00000381577:p.Trp2284*						p.W2284*	NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	Epithelial(17;0.229)		55	6928	-			2284					A8MWD0|B3KWU9|O60316|O94834|Q3B777|Q6P6C9|Q7L8P6|Q8N3T9|Q8TBW2|Q9UGA1	Nonsense_Mutation	SNP	ENST00000398571.2	37	c.6852G>A	CCDS42686.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	28.4|28.4	4.912756|4.912756	0.92178|0.92178	.|.	.|.	ENSG00000115464|ENSG00000115464	ENST00000411912|ENST00000263989;ENST00000398569;ENST00000398571;ENST00000453734	.|.	.|.	.|.	5.72|5.72	5.72|5.72	0.89469|0.89469	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|.	0.48187|.	0.1486|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.37641|.	-0.9697|.	3|.	.|0.02654	.|T	.|1	.|.	19.8751|19.8751	0.96867|0.96867	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	T|X	44|2132;2132;2284;562	.|.	.|ENSP00000263989:W2132X	A|W	-|-	1|3	0|0	USP34|USP34	61316866|61316866	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	7.818000|7.818000	0.86416|0.86416	2.695000|2.695000	0.91970|0.91970	0.655000|0.655000	0.94253|0.94253	GCA|TGG		0.269	USP34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325650.4			21	45	0	0	0	1	0	21	45					T	61463362	C	T	61463362	4	4	435	1	0	0	0	0	0	1	0	0	17062	740	26	3	3892	3	USP34	2	61463362	Nonsense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	288073	61463362	181736011	1099	22024											
USP34	9736	broad.mit.edu	37	chr2	61575066	61575066	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctgtggaccaataaattgtcGacaattaaataattcattcc	15	13	5	8	1	1	0	1	0	0	0	3	2	2	1	2	1	0	0	2	1	7	6			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:61575066G>A	ENST00000398571.2	-	15	2300	c.2224C>T	c.(2224-2226)Cga>Tga	p.R742*		NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	742					positive regulation of canonical Wnt signaling pathway (GO:0090263)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|ubiquitin-dependent protein catabolic process (GO:0006511)|Wnt signaling pathway (GO:0016055)		cysteine-type endopeptidase activity (GO:0004197)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			ATAAATTGTCGACAATTAAAT	0.428																																						ENST00000398571.2																			0				autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138						c.(2224-2226)Cga>Tga		ubiquitin specific peptidase 34							87	88	87					2																	61575066		1978	4160	6138	SO:0001587	stop_gained	9736				positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr2:61575066G>A	AB011142	CCDS42686.1	2p16.1-p15	2005-08-08	2005-08-08		ENSG00000115464	ENSG00000115464		"Ubiquitin-specific peptidases"	20066	protein-coding gene	gene with protein product		615295	"ubiquitin specific protease 34"			12838346	Standard	NM_014709		Approved	KIAA0570, KIAA0729	uc002sbe.3	Q70CQ2	OTTHUMG00000152265	ENST00000398571.2:c.2224C>T	2.37:g.61575066G>A	ENSP00000381577:p.Arg742*						p.R742*	NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	Epithelial(17;0.229)		15	2300	-			742					A8MWD0|B3KWU9|O60316|O94834|Q3B777|Q6P6C9|Q7L8P6|Q8N3T9|Q8TBW2|Q9UGA1	Nonsense_Mutation	SNP	ENST00000398571.2	37	c.2224C>T	CCDS42686.1	.	.	.	.	.	.	.	.	.	.	G	26.4	4.736501	0.89482	.	.	ENSG00000115464	ENST00000263989;ENST00000398569;ENST00000398571	.	.	.	5.28	2.41	0.29592	.	0.062472	0.64402	D	0.000006	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	8.1012	0.30859	0.0706:0.0:0.5247:0.4047	.	.	.	.	X	590;590;742	.	ENSP00000263989:R590X	R	-	1	2	USP34	61428570	1.000000	0.71417	0.968000	0.41197	0.002000	0.02628	4.402000	0.59722	0.206000	0.20587	-0.188000	0.12872	CGA		0.428	USP34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325650.4			38	41	0	0	0	1	0	38	41					A	61575066	G	A	61575066	4	1	435	1	0	0	0	0	0	1	0	0	17062	1066	37	2	8680	2	USP34	2	61575066	Nonsense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	111704	61575066	181624307	1100	22025											
EHBP1	23301	broad.mit.edu	37	chr2	63058166	63058166	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgatgtagagatgaagacatGcaaagtttggctagtttgat	13	13	12	3	0	0	5	0	3	0	2	0	6	0	5	0	1	1	5	0	1	4	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:63058166G>A	ENST00000263991.5	+	7	989	c.507G>A	c.(505-507)atG>atA	p.M169I	EHBP1_ENST00000354487.3_Missense_Mutation_p.M169I|EHBP1_ENST00000405015.3_Missense_Mutation_p.M169I|EHBP1_ENST00000431489.1_Missense_Mutation_p.M169I|AC007098.1_ENST00000452397.1_RNA|EHBP1_ENST00000405289.1_Missense_Mutation_p.M169I	NM_015252.3	NP_056067.2	Q8NDI1	EHBP1_HUMAN	EH domain binding protein 1	169						cytoplasm (GO:0005737)|membrane (GO:0016020)				biliary_tract(1)|breast(3)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(22)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	47	Lung NSC(7;0.0951)|all_lung(7;0.169)		LUSC - Lung squamous cell carcinoma(7;7.74e-05)|Epithelial(17;0.189)			ATGAAGACATGCAAAGTTTGG	0.328																																						ENST00000263991.5																			0				biliary_tract(1)|breast(3)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(22)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	47						c.(505-507)atG>atA		EH domain binding protein 1							131	119	123					2																	63058166		2203	4300	6503	SO:0001583	missense	23301					cytoplasm|membrane		g.chr2:63058166G>A	AL833968	CCDS1872.1, CCDS46299.1, CCDS46300.1	2p15	2008-02-05			ENSG00000115504	ENSG00000115504			29144	protein-coding gene	gene with protein product		609922				10048485	Standard	NM_015252		Approved	KIAA0903, NACSIN	uc002sby.3	Q8NDI1	OTTHUMG00000129453	ENST00000263991.5:c.507G>A	2.37:g.63058166G>A	ENSP00000263991:p.Met169Ile					AC007098.1_ENST00000452397.1_RNA|EHBP1_ENST00000405015.3_Missense_Mutation_p.M169I|EHBP1_ENST00000354487.3_Missense_Mutation_p.M169I|EHBP1_ENST00000431489.1_Missense_Mutation_p.M169I|EHBP1_ENST00000405289.1_Missense_Mutation_p.M169I	p.M169I	NM_015252.3	NP_056067.2	Q8NDI1	EHBP1_HUMAN	LUSC - Lung squamous cell carcinoma(7;7.74e-05)|Epithelial(17;0.189)		7	989	+	Lung NSC(7;0.0951)|all_lung(7;0.169)		169					O94977|Q53TG7|Q53TV6|Q580X2|Q6NX72|Q6PIT3|Q6QNV2|Q9NWI9	Missense_Mutation	SNP	ENST00000263991.5	37	c.507G>A	CCDS1872.1	.	.	.	.	.	.	.	.	.	.	G	28.6	4.937931	0.92526	.	.	ENSG00000115504	ENST00000405015;ENST00000449820;ENST00000405482;ENST00000431489;ENST00000263991;ENST00000354487;ENST00000405289	T;T;T;T;T;T;T	0.80566	-1.38;0.43;0.47;-1.38;-1.39;-1.36;-1.36	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	D	0.89174	0.6640	M	0.67397	2.05	0.80722	D	1	D;D;P	0.59767	0.986;0.982;0.926	D;D;D	0.71656	0.974;0.961;0.956	D	0.87832	0.2645	10	0.49607	T	0.09	.	20.3967	0.98985	0.0:0.0:1.0:0.0	.	169;169;169	Q8NDI1-2;Q8NDI1-3;Q8NDI1	.;.;EHBP1_HUMAN	I	169;49;169;169;169;169;169	ENSP00000384143:M169I;ENSP00000399609:M49I;ENSP00000384829:M169I;ENSP00000403783:M169I;ENSP00000263991:M169I;ENSP00000346482:M169I;ENSP00000385524:M169I	ENSP00000263991:M169I	M	+	3	0	EHBP1	62911670	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	9.416000	0.97383	2.829000	0.97493	0.655000	0.94253	ATG		0.328	EHBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251616.1	NM_015252		27	30	0	0	0	1	0	27	30					A	63058166	G	A	63058166	3	1	435	1	0	0	0	0	1	0	0	0	4975	1319	46	3	529	3	EHBP1	2	63058166	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	1483100	63058166	180141207	1101	22026											
EHBP1	23301	broad.mit.edu	37	chr2	63175805	63175805	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccaagcacagcctccccttaCtgtcgcaggactaaaagtga	12	7	8	14	1	0	1	0	1	0	0	2	2	1	2	4	1	3	2	4	1	4	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:63175805C>A	ENST00000263991.5	+	14	2411	c.1929C>A	c.(1927-1929)taC>taA	p.Y643*	EHBP1_ENST00000354487.3_Nonsense_Mutation_p.Y608*|EHBP1_ENST00000405015.3_Nonsense_Mutation_p.Y608*|EHBP1_ENST00000431489.1_Nonsense_Mutation_p.Y608*|EHBP1_ENST00000405289.1_Nonsense_Mutation_p.Y608*	NM_015252.3	NP_056067.2	Q8NDI1	EHBP1_HUMAN	EH domain binding protein 1	643						cytoplasm (GO:0005737)|membrane (GO:0016020)				biliary_tract(1)|breast(3)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(22)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	47	Lung NSC(7;0.0951)|all_lung(7;0.169)		LUSC - Lung squamous cell carcinoma(7;7.74e-05)|Epithelial(17;0.189)			CCTCCCCTTACTGTCGCAGGA	0.468																																						ENST00000263991.5																			0				biliary_tract(1)|breast(3)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(22)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	47						c.(1927-1929)taC>taA		EH domain binding protein 1							40	37	38					2																	63175805		2203	4299	6502	SO:0001587	stop_gained	23301					cytoplasm|membrane		g.chr2:63175805C>A	AL833968	CCDS1872.1, CCDS46299.1, CCDS46300.1	2p15	2008-02-05			ENSG00000115504	ENSG00000115504			29144	protein-coding gene	gene with protein product		609922				10048485	Standard	NM_015252		Approved	KIAA0903, NACSIN	uc002sby.3	Q8NDI1	OTTHUMG00000129453	ENST00000263991.5:c.1929C>A	2.37:g.63175805C>A	ENSP00000263991:p.Tyr643*					EHBP1_ENST00000405015.3_Nonsense_Mutation_p.Y608*|EHBP1_ENST00000354487.3_Nonsense_Mutation_p.Y608*|EHBP1_ENST00000431489.1_Nonsense_Mutation_p.Y608*|EHBP1_ENST00000405289.1_Nonsense_Mutation_p.Y608*	p.Y643*	NM_015252.3	NP_056067.2	Q8NDI1	EHBP1_HUMAN	LUSC - Lung squamous cell carcinoma(7;7.74e-05)|Epithelial(17;0.189)		14	2411	+	Lung NSC(7;0.0951)|all_lung(7;0.169)		643					O94977|Q53TG7|Q53TV6|Q580X2|Q6NX72|Q6PIT3|Q6QNV2|Q9NWI9	Nonsense_Mutation	SNP	ENST00000263991.5	37	c.1929C>A	CCDS1872.1	.	.	.	.	.	.	.	.	.	.	C	42	9.786335	0.99263	.	.	ENSG00000115504	ENST00000405015;ENST00000431489;ENST00000263991;ENST00000354487;ENST00000405289	.	.	.	5.93	3.18	0.36537	.	0.236869	0.33477	N	0.004880	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.6273	0.39759	0.0:0.7228:0.0:0.2772	.	.	.	.	X	608;608;643;608;608	.	ENSP00000263991:Y643X	Y	+	3	2	EHBP1	63029309	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	0.796000	0.26986	0.411000	0.25702	-0.150000	0.13652	TAC		0.468	EHBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251616.1	NM_015252		14	19	1	0	1.49906e-05	1	1.54943e-05	14	19					A	63175805	C	A	63175805	4	1	435	1	0	0	0	0	0	1	0	0	4975	576	20	5	1979	5	EHBP1	2	63175805	Nonsense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	117639	63175805	180023568	1102	22027											
MDH1	4190	broad.mit.edu	37	chr2	63833095	63833095	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agagtttgtgtccatgggtgTtatctctgatggcaactcct	7	15	11	8	0	1	2	0	1	1	1	4	2	3	2	2	2	1	3	2	2	2	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:63833095T>C	ENST00000233114.8	+	8	1247	c.812T>C	c.(811-813)gTt>gCt	p.V271A	MDH1_ENST00000394423.1_Missense_Mutation_p.V271A|MDH1_ENST00000409476.1_Missense_Mutation_p.V147A|MDH1_ENST00000544381.1_Missense_Mutation_p.V182A|MDH1_ENST00000539945.1_Missense_Mutation_p.V289A|MDH1_ENST00000409908.1_Missense_Mutation_p.V106A	NM_005917.3	NP_005908.1	P40925	MDHC_HUMAN	malate dehydrogenase 1, NAD (soluble)	271					carbohydrate metabolic process (GO:0005975)|cellular carbohydrate metabolic process (GO:0044262)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|malate metabolic process (GO:0006108)|NADH metabolic process (GO:0006734)|oxaloacetate metabolic process (GO:0006107)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	diiodophenylpyruvate reductase activity (GO:0047860)|L-malate dehydrogenase activity (GO:0030060)|malic enzyme activity (GO:0004470)|NAD binding (GO:0051287)			endometrium(2)|kidney(4)|large_intestine(1)|liver(2)|lung(4)	13						TCCATGGGTGTTATCTCTGAT	0.378																																						ENST00000233114.8																			0				endometrium(2)|kidney(4)|large_intestine(1)|liver(2)|lung(4)	13						c.(811-813)gTt>gCt		malate dehydrogenase 1, NAD (soluble)	NADH(DB00157)						407	368	381					2																	63833095		2203	4300	6503	SO:0001583	missense	4190				gluconeogenesis|tricarboxylic acid cycle	centrosome|cytosol	L-malate dehydrogenase activity|malic enzyme activity	g.chr2:63833095T>C		CCDS1874.1, CCDS56121.1, CCDS56122.1	2p23	2012-10-02			ENSG00000014641	ENSG00000014641	1.1.1.37		6970	protein-coding gene	gene with protein product		154200					Standard	NM_005917		Approved		uc010ypv.2	P40925	OTTHUMG00000129512	ENST00000233114.8:c.812T>C	2.37:g.63833095T>C	ENSP00000233114:p.Val271Ala					MDH1_ENST00000544381.1_Missense_Mutation_p.V182A|MDH1_ENST00000539945.1_Missense_Mutation_p.V289A|MDH1_ENST00000409908.1_Missense_Mutation_p.V106A|MDH1_ENST00000409476.1_Missense_Mutation_p.V147A|MDH1_ENST00000394423.1_Missense_Mutation_p.V271A	p.V271A	NM_005917.3	NP_005908.1	P40925	MDHC_HUMAN			8	1247	+			271					B2R5V5|B4DUN2|B7Z3I7|F5H098|Q6I9V0	Missense_Mutation	SNP	ENST00000233114.8	37	c.812T>C	CCDS1874.1	.	.	.	.	.	.	.	.	.	.	T	24.6	4.545961	0.86022	.	.	ENSG00000014641	ENST00000233114;ENST00000409908;ENST00000409476;ENST00000539945;ENST00000544381;ENST00000394423	T;T;T;T;T;T	0.72167	-0.63;-0.63;-0.63;-0.63;-0.63;-0.63	5.63	5.63	0.86233	Lactate/malate dehydrogenase, C-terminal (1);Lactate dehydrogenase/glycoside hydrolase, family 4, C-terminal (2);	0.288102	0.38837	N	0.001553	D	0.87569	0.6210	M	0.93550	3.43	0.80722	D	1	P;D	0.60575	0.891;0.988	P;D	0.65874	0.695;0.939	D	0.90816	0.4705	10	0.87932	D	0	-14.6366	16.1297	0.81418	0.0:0.0:0.0:1.0	.	289;271	F5H098;P40925	.;MDHC_HUMAN	A	271;106;147;289;182;271	ENSP00000233114:V271A;ENSP00000386743:V106A;ENSP00000386719:V147A;ENSP00000438144:V289A;ENSP00000446395:V182A;ENSP00000377945:V271A	ENSP00000233114:V271A	V	+	2	0	MDH1	63686599	1.000000	0.71417	0.087000	0.20705	0.963000	0.63663	7.655000	0.83696	2.270000	0.75569	0.460000	0.39030	GTT		0.378	MDH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251687.1			51	98	0	0	0	1	0	51	98					C	63833095	T	C	63833095	3	2	435	1	0	0	0	0	1	0	0	0	9408	1725	60	4	842	4	MDH1	2	63833095	Missense_Mutation	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	657290	63833095	179366278	1103	22028											
VPS54	51542	broad.mit.edu	37	chr2	64120618	64120618	+	Frame_Shift_Del	DEL	T	T	-																															aggtccaaatctttaaggccTtttaaggcttgaagatttcc																										TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:64120618delT	ENST00000272322.4	-	23	3034	c.2880delA	c.(2878-2880)aaafs	p.K960fs	VPS54_ENST00000354504.3_Frame_Shift_Del_p.K807fs|VPS54_ENST00000409558.4_Frame_Shift_Del_p.K948fs			Q9P1Q0	VPS54_HUMAN	vacuolar protein sorting 54 homolog (S. cerevisiae)	960					growth (GO:0040007)|homeostasis of number of cells within a tissue (GO:0048873)|musculoskeletal movement (GO:0050881)|neurofilament cytoskeleton organization (GO:0060052)|protein transport (GO:0015031)|retrograde transport, endosome to Golgi (GO:0042147)	GARP complex (GO:0000938)				endometrium(3)|kidney(4)|large_intestine(8)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	27						CTTTAAGGCCTTTTAAGGCTT	0.373																																						ENST00000354504.3																			0				endometrium(3)|kidney(4)|large_intestine(8)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	27						c.(2419-2421)aafs		vacuolar protein sorting 54 homolog (S. cerevisiae)							135	143	141					2																	64120618		2203	4300	6503	SO:0001589	frameshift_variant	51542				protein transport|retrograde transport, endosome to Golgi			g.chr2:64120618delT	AF102177	CCDS33208.1, CCDS46302.1	2p15-p14	2014-06-13	2006-12-19		ENSG00000143952	ENSG00000143952			18652	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 164"	614633	"vacuolar protein sorting 54 (yeast)"			12039048	Standard	NM_016516		Approved	HCC8, PPP1R164	uc002scq.3	Q9P1Q0	OTTHUMG00000152627	ENST00000272322.4:c.2880delA	2.37:g.64120618delT	ENSP00000272322:p.Lys960fs					VPS54_ENST00000409558.3_Frame_Shift_Del_p.K948fs|VPS54_ENST00000272322.4_Frame_Shift_Del_p.K960fs	p.K807fs			Q9P1Q0	VPS54_HUMAN			20	3010	-			960					Q5VIR5|Q86YF7|Q8N6G3|Q9NPV0|Q9NT07|Q9NUJ0	Frame_Shift_Del	DEL	ENST00000272322.4	37	c.2421delA	CCDS33208.1																																																																																				0.373	VPS54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327062.2	NM_016516		48	94						48	94	---	---	---	---	-	64120618	T	-	64120618	7	5	435	1	0	1	0	1	0	0	0	0	17213	1606	56	0	57	0	VPS54	2	64120618	Frame_Shift_Del	DEL	T	TCGA-XK-AAIW-01A-11D-A41K-08	287523	64120618	179078755	1104	22029											
SLC1A4	6509	broad.mit.edu	37	chr2	65243578	65243578	+	Missense_Mutation	SNP	G	G	A																															tgtgcttgtgccctaggtacGtacctgtgggcatcatgttc																								rs147292530		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:65243578G>A	ENST00000234256.3	+	5	1048	c.805G>A	c.(805-807)Gta>Ata	p.V269I	SLC1A4_ENST00000493121.1_3'UTR|SLC1A4_ENST00000531327.1_Intron	NM_003038.4	NP_003029.2	P43007	SATT_HUMAN	solute carrier family 1 (glutamate/neutral amino acid transporter), member 4	269					amino acid transport (GO:0006865)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|cognition (GO:0050890)|glutamine transport (GO:0006868)|hydroxyproline transport (GO:0034589)|ion transport (GO:0006811)|L-alanine transport (GO:0015808)|L-cystine transport (GO:0015811)|L-serine transport (GO:0015825)|proline transmembrane transport (GO:0035524)|proline transport (GO:0015824)|synaptic transmission, glutamatergic (GO:0035249)|threonine transport (GO:0015826)|transmembrane transport (GO:0055085)	cell surface (GO:0009986)|centrosome (GO:0005813)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intermediate filament (GO:0005882)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	chloride channel activity (GO:0005254)|L-alanine transmembrane transporter activity (GO:0015180)|L-cystine transmembrane transporter activity (GO:0015184)|L-glutamine transmembrane transporter activity (GO:0015186)|L-hydroxyproline transmembrane transporter activity (GO:0034590)|L-proline transmembrane transporter activity (GO:0015193)|L-serine transmembrane transporter activity (GO:0015194)|L-threonine transmembrane transporter activity (GO:0015195)|sodium:dicarboxylate symporter activity (GO:0017153)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)|urinary_tract(1)	13					L-Alanine(DB00160)	CCCTAGGTACGTACCTGTGGG	0.517																																						ENST00000234256.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)|urinary_tract(1)	13						c.(805-807)Gta>Ata		solute carrier family 1 (glutamate/neutral amino acid transporter), member 4	L-Alanine(DB00160)	G	,ILE/VAL	0,4406		0,0,2203	152	129	137		,805	5.8	0.5	2	dbSNP_134	137	1,8599	1.2+/-3.3	0,1,4299	no	intron,missense	SLC1A4	NM_001193493.1,NM_003038.4	,29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,benign	,269/533	65243578	1,13005	2203	4300	6503	SO:0001583	missense	6509				cellular nitrogen compound metabolic process|cognition|synaptic transmission, glutamatergic	intermediate filament|melanosome	chloride channel activity|L-alanine transmembrane transporter activity|L-cystine transmembrane transporter activity|L-hydroxyproline transmembrane transporter activity|L-proline transmembrane transporter activity|L-serine transmembrane transporter activity|L-threonine transmembrane transporter activity|sodium:dicarboxylate symporter activity	g.chr2:65243578G>A		CCDS1879.1, CCDS54362.1	2p15-p13	2013-05-22			ENSG00000115902	ENSG00000115902		"Solute carriers"	10942	protein-coding gene	gene with protein product	"alanine/serine/cysteine/threonine transporter"	600229				7896285, 8910405	Standard	NM_003038		Approved	SATT, ASCT1	uc010yqa.2	P43007	OTTHUMG00000129537	ENST00000234256.3:c.805G>A	2.37:g.65243578G>A	ENSP00000234256:p.Val269Ile					SLC1A4_ENST00000493121.1_3'UTR|SLC1A4_ENST00000531327.1_Intron	p.V269I	NM_003038.4	NP_003029.2	P43007	SATT_HUMAN			5	1048	+			269					B7Z3C0|D6W5F0	Missense_Mutation	SNP	ENST00000234256.3	37	c.805G>A	CCDS1879.1	.	.	.	.	.	.	.	.	.	.	G	16.21	3.058441	0.55325	0.0	1.16E-4	ENSG00000115902	ENST00000448784;ENST00000234256	T	0.59224	0.28	5.83	5.83	0.93111	.	0.102547	0.64402	D	0.000003	T	0.55986	0.1955	L	0.55481	1.735	0.58432	D	0.999998	B;B	0.27416	0.178;0.178	B;B	0.21708	0.022;0.036	T	0.49244	-0.8960	10	0.31617	T	0.26	-48.0645	20.5632	0.99335	0.0:0.0:1.0:0.0	.	269;269	P43007;B2R7N6	SATT_HUMAN;.	I	189;269	ENSP00000234256:V269I	ENSP00000234256:V269I	V	+	1	0	SLC1A4	65097082	1.000000	0.71417	0.487000	0.27428	0.942000	0.58702	7.728000	0.84847	2.937000	0.99478	0.650000	0.86243	GTA		0.517	SLC1A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251726.2	NM_003038		13	43	0	0	0	1	0	13	43					A	65243578	G	A	65243578	3	1	435	1	0	0	0	0	1	0	0	0	14434	1145	40	1	823	1	SLC1A4	2	65243578	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	1122960	65243578	177955795	1105	22030	110	2									
SLC1A4	6509	broad.mit.edu	37	chr2	65243582	65243582	+	Missense_Mutation	SNP	C	C	A																															cttgtgccctaggtacgtacCtgtgggcatcatgttccttg																										TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:65243582C>A	ENST00000234256.3	+	5	1052	c.809C>A	c.(808-810)cCt>cAt	p.P270H	SLC1A4_ENST00000493121.1_3'UTR|SLC1A4_ENST00000531327.1_Intron	NM_003038.4	NP_003029.2	P43007	SATT_HUMAN	solute carrier family 1 (glutamate/neutral amino acid transporter), member 4	270					amino acid transport (GO:0006865)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|cognition (GO:0050890)|glutamine transport (GO:0006868)|hydroxyproline transport (GO:0034589)|ion transport (GO:0006811)|L-alanine transport (GO:0015808)|L-cystine transport (GO:0015811)|L-serine transport (GO:0015825)|proline transmembrane transport (GO:0035524)|proline transport (GO:0015824)|synaptic transmission, glutamatergic (GO:0035249)|threonine transport (GO:0015826)|transmembrane transport (GO:0055085)	cell surface (GO:0009986)|centrosome (GO:0005813)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intermediate filament (GO:0005882)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	chloride channel activity (GO:0005254)|L-alanine transmembrane transporter activity (GO:0015180)|L-cystine transmembrane transporter activity (GO:0015184)|L-glutamine transmembrane transporter activity (GO:0015186)|L-hydroxyproline transmembrane transporter activity (GO:0034590)|L-proline transmembrane transporter activity (GO:0015193)|L-serine transmembrane transporter activity (GO:0015194)|L-threonine transmembrane transporter activity (GO:0015195)|sodium:dicarboxylate symporter activity (GO:0017153)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)|urinary_tract(1)	13					L-Alanine(DB00160)	AGGTACGTACCTGTGGGCATC	0.507																																						ENST00000234256.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)|urinary_tract(1)	13						c.(808-810)cCt>cAt		solute carrier family 1 (glutamate/neutral amino acid transporter), member 4	L-Alanine(DB00160)						157	135	142					2																	65243582		2203	4300	6503	SO:0001583	missense	6509				cellular nitrogen compound metabolic process|cognition|synaptic transmission, glutamatergic	intermediate filament|melanosome	chloride channel activity|L-alanine transmembrane transporter activity|L-cystine transmembrane transporter activity|L-hydroxyproline transmembrane transporter activity|L-proline transmembrane transporter activity|L-serine transmembrane transporter activity|L-threonine transmembrane transporter activity|sodium:dicarboxylate symporter activity	g.chr2:65243582C>A		CCDS1879.1, CCDS54362.1	2p15-p13	2013-05-22			ENSG00000115902	ENSG00000115902		"Solute carriers"	10942	protein-coding gene	gene with protein product	"alanine/serine/cysteine/threonine transporter"	600229				7896285, 8910405	Standard	NM_003038		Approved	SATT, ASCT1	uc010yqa.2	P43007	OTTHUMG00000129537	ENST00000234256.3:c.809C>A	2.37:g.65243582C>A	ENSP00000234256:p.Pro270His					SLC1A4_ENST00000493121.1_3'UTR|SLC1A4_ENST00000531327.1_Intron	p.P270H	NM_003038.4	NP_003029.2	P43007	SATT_HUMAN			5	1052	+			270					B7Z3C0|D6W5F0	Missense_Mutation	SNP	ENST00000234256.3	37	c.809C>A	CCDS1879.1	.	.	.	.	.	.	.	.	.	.	C	33	5.239600	0.95240	.	.	ENSG00000115902	ENST00000448784;ENST00000234256	D	0.90955	-2.76	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	D	0.97346	0.9132	H	0.97077	3.935	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.97725	1.0199	10	0.87932	D	0	-37.3515	20.5827	0.99408	0.0:1.0:0.0:0.0	.	270;270	P43007;B2R7N6	SATT_HUMAN;.	H	190;270	ENSP00000234256:P270H	ENSP00000234256:P270H	P	+	2	0	SLC1A4	65097086	0.999000	0.42202	0.995000	0.50966	0.984000	0.73092	7.776000	0.85560	2.941000	0.99782	0.655000	0.94253	CCT		0.507	SLC1A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251726.2	NM_003038		14	45	1	0	4.3838e-07	1	4.58243e-07	14	45					A	65243582	C	A	65243582	3	1	435	1	0	0	0	0	1	0	0	0	14434	681	24	5	827	5	SLC1A4	2	65243582	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	4	65243582	177955791	1106	22031	110	2									
SPRED2	200734	broad.mit.edu	37	chr2	65561755	65561755	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ataccttctataaggtcttcGattgctttccttactcccct	7	17	4	13	1	2	0	0	0	2	0	5	1	4	0	4	1	3	1	4	1	4	8			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:65561755G>A	ENST00000356388.4	-	3	546	c.357C>T	c.(355-357)atC>atT	p.I119I	SPRED2_ENST00000443619.2_Silent_p.I116I|SPRED2_ENST00000474228.1_5'UTR	NM_181784.2	NP_861449.2	Q7Z698	SPRE2_HUMAN	sprouty-related, EVH1 domain containing 2	119	WH1. {ECO:0000255|PROSITE- ProRule:PRU00410}.				inactivation of MAPK activity (GO:0000188)|multicellular organismal development (GO:0007275)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|regulation of protein deacetylation (GO:0090311)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|protein serine/threonine kinase inhibitor activity (GO:0030291)|stem cell factor receptor binding (GO:0005173)	p.I119I(1)		breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(7)|ovary(2)|upper_aerodigestive_tract(3)	34						TAAGGTCTTCGATTGCTTTCC	0.408																																						ENST00000356388.4																			1	Substitution - coding silent(1)	p.I119I(1)	large_intestine(1)	breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(7)|ovary(2)|upper_aerodigestive_tract(3)	34						c.(355-357)atC>atT		sprouty-related, EVH1 domain containing 2							152	139	144					2																	65561755		2203	4300	6503	SO:0001819	synonymous_variant	200734				inactivation of MAPK activity|multicellular organismal development	transport vesicle membrane	stem cell factor receptor binding	g.chr2:65561755G>A	AF052178	CCDS33211.1, CCDS46308.1	2p14	2003-06-02			ENSG00000198369	ENSG00000198369			17722	protein-coding gene	gene with protein product		609292					Standard	NM_181784		Approved	Spred-2, FLJ21897, FLJ31917	uc002sdr.4	Q7Z698	OTTHUMG00000152737	ENST00000356388.4:c.357C>T	2.37:g.65561755G>A						SPRED2_ENST00000443619.2_Silent_p.I116I|SPRED2_ENST00000474228.1_5'UTR	p.I119I	NM_181784.2	NP_861449.2	Q7Z698	SPRE2_HUMAN			3	546	-			119			WH1.		A1L3V4|B7Z5K7|D6W5F7|E9PEP0|Q2NKX6	Silent	SNP	ENST00000356388.4	37	c.357C>T	CCDS33211.1																																																																																				0.408	SPRED2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000327632.1			8	71	0	0	0	1	0	8	71					A	65561755	G	A	65561755	2	1	435	1	0	0	0	0	0	0	0	1	15092	1048	37	2		2	SPRED2	2	65561755	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	318173	65561755	177637618	1107	22032											
MEIS1	4211	broad.mit.edu	37	chr2	66670093	66670093	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agctgtttgaaagggaaaatGcctatcgatttggtgataga	13	12	12	4	1	0	3	0	2	0	1	1	5	0	4	1	2	2	2	1	2	5	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:66670093G>A	ENST00000272369.9	+	6	1000	c.543G>A	c.(541-543)atG>atA	p.M181I	MEIS1_ENST00000398506.2_Missense_Mutation_p.M179I|MEIS1_ENST00000444274.2_Missense_Mutation_p.M149I|MEIS1_ENST00000495021.2_Missense_Mutation_p.M116I|MEIS1_ENST00000560281.2_Missense_Mutation_p.M181I|MEIS1-AS1_ENST00000454595.1_RNA|MEIS1-AS2_ENST00000439433.1_RNA|MEIS1_ENST00000407092.2_Missense_Mutation_p.M181I|MEIS1_ENST00000488550.1_Missense_Mutation_p.M181I	NM_002398.2	NP_002389.1	O00470	MEIS1_HUMAN	Meis homeobox 1	181					angiogenesis (GO:0001525)|definitive hemopoiesis (GO:0060216)|lens morphogenesis in camera-type eye (GO:0002089)|megakaryocyte development (GO:0035855)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of neuron differentiation (GO:0045665)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)			breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(10)|prostate(2)|skin(1)|urinary_tract(1)	24						AAGGGAAAATGCCTATCGATT	0.368																																						ENST00000488550.1																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(10)|prostate(2)|skin(1)|urinary_tract(1)	24						c.(541-543)atG>atA		Meis homeobox 1							204	203	203					2																	66670093		1899	4149	6048	SO:0001583	missense	4211						sequence-specific DNA binding transcription factor activity	g.chr2:66670093G>A		CCDS46309.1	2p14	2011-06-20	2007-02-15		ENSG00000143995	ENSG00000143995		"Homeoboxes / TALE class"	7000	protein-coding gene	gene with protein product		601739	"Meis1 (mouse) homolog", "Meis1, myeloid ecotropic viral integration site 1 homolog (mouse)"			7565694	Standard	NM_002398		Approved		uc002sdu.3	O00470	OTTHUMG00000150714	ENST00000272369.9:c.543G>A	2.37:g.66670093G>A	ENSP00000272369:p.Met181Ile					MEIS1_ENST00000495021.2_Missense_Mutation_p.M116I|MEIS1_ENST00000560281.2_Missense_Mutation_p.M181I|MEIS1_ENST00000444274.2_Missense_Mutation_p.M149I|MEIS1_ENST00000407092.2_Missense_Mutation_p.M181I|MEIS1_ENST00000398506.2_Missense_Mutation_p.M179I|MEIS1_ENST00000272369.9_Missense_Mutation_p.M181I	p.M181I			O00470	MEIS1_HUMAN			6	842	+			181					A8MV50	Missense_Mutation	SNP	ENST00000272369.9	37	c.543G>A	CCDS46309.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.015927	0.75161	.	.	ENSG00000143995	ENST00000272369;ENST00000407092;ENST00000398506;ENST00000444274;ENST00000495021;ENST00000409622;ENST00000402908;ENST00000437869	T;T;T;T;T;T	0.29917	1.55;1.55;1.55;1.55;1.55;1.55	5.97	5.97	0.96955	.	0.000000	0.85682	D	0.000000	T	0.58424	0.2121	M	0.73372	2.23	0.80722	D	1	D;D;D;D	0.69078	0.997;0.976;0.98;0.976	D;D;D;D	0.81914	0.995;0.98;0.968;0.98	T	0.58008	-0.7712	10	0.87932	D	0	.	20.0384	0.97572	0.0:0.0:1.0:0.0	.	116;179;181;181	F5GYS8;O00470-2;O00470;F8W8U3	.;.;MEIS1_HUMAN;.	I	181;181;179;149;116;1;37;37	ENSP00000272369:M181I;ENSP00000384461:M181I;ENSP00000381518:M179I;ENSP00000403206:M149I;ENSP00000440571:M116I;ENSP00000397418:M37I	ENSP00000272369:M181I	M	+	3	0	MEIS1	66523597	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.869000	0.99810	2.837000	0.97791	0.655000	0.94253	ATG		0.368	MEIS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319725.4	NM_002398		46	69	0	0	0	1	0	46	69					A	66670093	G	A	66670093	3	1	435	1	0	0	0	0	1	0	0	0	9467	1319	46	3	565	3	MEIS1	2	66670093	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	1108338	66670093	176529280	1108	22033											
CNRIP1	25927	broad.mit.edu	37	chr2	68521098	68521098	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tccccactggcagtgatcccGcttgtggtaattgtagaact	8	12	10	11	1	0	2	0	1	0	1	2	2	2	2	3	2	1	4	3	2	3	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:68521098G>A	ENST00000263655.3	-	3	996	c.391C>T	c.(391-393)Cgg>Tgg	p.R131W	CNRIP1_ENST00000481714.1_5'UTR|CNRIP1_ENST00000409559.3_Intron	NM_015463.2	NP_056278.1	Q96F85	CNRP1_HUMAN	cannabinoid receptor interacting protein 1	131										kidney(1)|large_intestine(5)|liver(1)|lung(1)|skin(1)	9						CAGTGATCCCGCTTGTGGTAA	0.488																																						ENST00000263655.3																			0				kidney(1)|large_intestine(5)|liver(1)|lung(1)|skin(1)	9						c.(391-393)Cgg>Tgg		cannabinoid receptor interacting protein 1							140	116	124					2																	68521098		2203	4300	6503	SO:0001583	missense	25927						protein binding	g.chr2:68521098G>A	AL110235	CCDS1886.1, CCDS46311.1	2p13	2008-02-05	2007-11-29	2007-11-29	ENSG00000119865	ENSG00000119865			24546	protein-coding gene	gene with protein product			"chromosome 2 open reading frame 32"	C2orf32		12477932	Standard	NM_015463		Approved	DKFZP566K1924, CRIP1, CRIP1a, CRIP1b	uc002sek.4	Q96F85	OTTHUMG00000129565	ENST00000263655.3:c.391C>T	2.37:g.68521098G>A	ENSP00000263655:p.Arg131Trp					CNRIP1_ENST00000409559.3_Intron|CNRIP1_ENST00000481714.1_5'UTR	p.R131W	NM_015463.2	NP_056278.1	Q96F85	CNRP1_HUMAN			3	996	-			131					B2R4D0|Q49AN4|Q9UFZ0	Missense_Mutation	SNP	ENST00000263655.3	37	c.391C>T	CCDS1886.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.129014	0.77549	.	.	ENSG00000119865	ENST00000263655	.	.	.	5.54	4.6	0.57074	.	0.166784	0.50627	D	0.000106	T	0.64271	0.2583	L	0.34521	1.04	0.80722	D	1	D	0.89917	1.0	D	0.69654	0.965	T	0.67007	-0.5779	9	0.87932	D	0	-1.5641	13.0756	0.59085	0.0:0.0:0.7187:0.2813	.	131	Q96F85	CNRP1_HUMAN	W	131	.	ENSP00000263655:R131W	R	-	1	2	CNRIP1	68374602	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.185000	0.50934	2.598000	0.87819	0.650000	0.86243	CGG		0.488	CNRIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251758.1	NM_015463		19	33	0	0	0	1	0	19	33					A	68521098	G	A	68521098	3	1	435	1	0	0	0	0	1	0	0	0	3633	1086	38	1	168	1	CNRIP1	2	68521098	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	1851005	68521098	174678275	1109	22034											
APLF	200558	broad.mit.edu	37	chr2	68740263	68740263	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ttgaatgaaacaccaaaatcCcccgtgattaatttacctca	15	11	4	11	1	1	3	1	3	0	0	2	3	2	3	4	0	2	0	4	0	6	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:68740263C>T	ENST00000303795.4	+	4	564	c.393C>T	c.(391-393)tcC>tcT	p.S131S		NM_173545.2	NP_775816.1	Q8IW19	APLF_HUMAN	aprataxin and PNKP like factor	131					cellular response to DNA damage stimulus (GO:0006974)|DNA catabolic process, endonucleolytic (GO:0000737)|double-strand break repair (GO:0006302)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|positive regulation of DNA ligation (GO:0051106)|regulation of isotype switching (GO:0045191)|single strand break repair (GO:0000012)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)	3'-5' exonuclease activity (GO:0008408)|DNA-(apurinic or apyrimidinic site) lyase activity (GO:0003906)|endodeoxyribonuclease activity (GO:0004520)|metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(9)|ovary(3)|prostate(1)|skin(1)	25						CACCAAAATCCCCCGTGATTA	0.363																																						ENST00000303795.4																			0				autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(9)|ovary(3)|prostate(1)|skin(1)	25						c.(391-393)tcC>tcT		aprataxin and PNKP like factor							66	70	69					2																	68740263		2203	4299	6502	SO:0001819	synonymous_variant	200558				double-strand break repair|single strand break repair	cytosol|nucleus	3'-5' exonuclease activity|DNA-(apurinic or apyrimidinic site) lyase activity|endodeoxyribonuclease activity|metal ion binding|nucleotide binding|protein binding	g.chr2:68740263C>T	BC030711	CCDS1888.1	2p14	2014-02-20	2008-10-01	2008-10-01	ENSG00000169621	ENSG00000169621			28724	protein-coding gene	gene with protein product	"XRCC1-interacting protein 1", "zinc finger, CX5CX6HX5H motif containing 1"	611035	"chromosome 2 open reading frame 13"	C2orf13		18474613, 18077224, 17353262	Standard	NM_173545		Approved	MGC47799, Xip1, ZCCHH1	uc002sep.3	Q8IW19	OTTHUMG00000129566	ENST00000303795.4:c.393C>T	2.37:g.68740263C>T							p.S131S	NM_173545.2	NP_775816.1	Q8IW19	APLF_HUMAN			4	564	+			131					A8K476|Q53P47|Q53PB9|Q53QU0	Silent	SNP	ENST00000303795.4	37	c.393C>T	CCDS1888.1																																																																																				0.363	APLF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251759.1	NM_173545		27	61	0	0	0	1	0	27	61					T	68740263	C	T	68740263	2	4	435	1	0	0	0	0	0	0	0	1	776	610	22	3		3	APLF	2	68740263	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	219165	68740263	174459110	1110	22035											
APLF	200558	broad.mit.edu	37	chr2	68794512	68794512	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atagaatatagacataatacGcttccaggtaagtaagttta	17	12	7	5	1	0	2	0	0	0	2	1	2	1	2	1	1	1	4	1	1	9	10			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:68794512G>A	ENST00000303795.4	+	9	1497	c.1326G>A	c.(1324-1326)acG>acA	p.T442T	APLF_ENST00000471727.1_3'UTR	NM_173545.2	NP_775816.1	Q8IW19	APLF_HUMAN	aprataxin and PNKP like factor	442					cellular response to DNA damage stimulus (GO:0006974)|DNA catabolic process, endonucleolytic (GO:0000737)|double-strand break repair (GO:0006302)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|positive regulation of DNA ligation (GO:0051106)|regulation of isotype switching (GO:0045191)|single strand break repair (GO:0000012)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)	3'-5' exonuclease activity (GO:0008408)|DNA-(apurinic or apyrimidinic site) lyase activity (GO:0003906)|endodeoxyribonuclease activity (GO:0004520)|metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(9)|ovary(3)|prostate(1)|skin(1)	25						GACATAATACGCTTCCAGGTA	0.284																																						ENST00000303795.4																			0				autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(9)|ovary(3)|prostate(1)|skin(1)	25						c.(1324-1326)acG>acA		aprataxin and PNKP like factor							52	54	54					2																	68794512		2201	4300	6501	SO:0001819	synonymous_variant	200558				double-strand break repair|single strand break repair	cytosol|nucleus	3'-5' exonuclease activity|DNA-(apurinic or apyrimidinic site) lyase activity|endodeoxyribonuclease activity|metal ion binding|nucleotide binding|protein binding	g.chr2:68794512G>A	BC030711	CCDS1888.1	2p14	2014-02-20	2008-10-01	2008-10-01	ENSG00000169621	ENSG00000169621			28724	protein-coding gene	gene with protein product	"XRCC1-interacting protein 1", "zinc finger, CX5CX6HX5H motif containing 1"	611035	"chromosome 2 open reading frame 13"	C2orf13		18474613, 18077224, 17353262	Standard	NM_173545		Approved	MGC47799, Xip1, ZCCHH1	uc002sep.3	Q8IW19	OTTHUMG00000129566	ENST00000303795.4:c.1326G>A	2.37:g.68794512G>A						APLF_ENST00000471727.1_3'UTR	p.T442T	NM_173545.2	NP_775816.1	Q8IW19	APLF_HUMAN			9	1497	+			442					A8K476|Q53P47|Q53PB9|Q53QU0	Silent	SNP	ENST00000303795.4	37	c.1326G>A	CCDS1888.1																																																																																				0.284	APLF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251759.1	NM_173545		21	30	0	0	0	1	0	21	30					A	68794512	G	A	68794512	2	1	435	1	0	0	0	0	0	0	0	1	776	1074	38	1		1	APLF	2	68794512	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	54249	68794512	174404861	1111	22036											
PROKR1	10887	broad.mit.edu	37	chr2	68882132	68882132	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttccgcctacttcaccacCgagacggtcctcgtcattgt	6	11	7	17	4	2	1	2	0	0	1	5	2	4	1	6	1	1	0	6	1	1	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:68882132C>T	ENST00000303786.3	+	3	1026	c.606C>T	c.(604-606)acC>acT	p.T202T	PROKR1_ENST00000394342.2_Silent_p.T202T			Q8TCW9	PKR1_HUMAN	prokineticin receptor 1	202					negative regulation of apoptotic process (GO:0043066)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	neuropeptide Y receptor activity (GO:0004983)	p.T202T(1)		endometrium(3)|kidney(2)|large_intestine(14)|lung(9)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						ACTTCACCACCGAGACGGTCC	0.557																																						ENST00000303786.3																			1	Substitution - coding silent(1)	p.T202T(1)	large_intestine(1)	endometrium(3)|kidney(2)|large_intestine(14)|lung(9)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						c.(604-606)acC>acT		prokineticin receptor 1							171	146	155					2																	68882132		2203	4300	6503	SO:0001819	synonymous_variant	10887					integral to membrane|plasma membrane	neuropeptide Y receptor activity	g.chr2:68882132C>T	AF506287	CCDS1889.1	2p14	2012-08-08	2006-02-15	2006-02-15	ENSG00000169618	ENSG00000169618		"GPCR / Class A : Prokineticin receptors"	4524	protein-coding gene	gene with protein product		607122	"G protein-coupled receptor 73"	GPR73		10760605	Standard	NM_138964		Approved	PKR1, ZAQ, GPR73a	uc010yqj.2	Q8TCW9	OTTHUMG00000129567	ENST00000303786.3:c.606C>T	2.37:g.68882132C>T						PROKR1_ENST00000394342.2_Silent_p.T202T	p.T202T			Q8TCW9	PKR1_HUMAN			3	1026	+			202					A5JUU2|Q53QT9|Q8NFJ7	Silent	SNP	ENST00000303786.3	37	c.606C>T	CCDS1889.1																																																																																				0.557	PROKR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251760.2			36	58	0	0	0	1	0	36	58					T	68882132	C	T	68882132	2	4	435	1	0	0	0	0	0	0	0	1	12552	639	23	2		2	PROKR1	2	68882132	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	87620	68882132	174317241	1112	22037											
PROKR1	10887	broad.mit.edu	37	chr2	68882258	68882258	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcatagaattcgtgggcccCgtggtcaccatgaccctgtg	7	9	13	12	2	1	2	1	1	0	1	2	2	1	2	4	3	0	1	4	3	2	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:68882258C>T	ENST00000303786.3	+	3	1152	c.732C>T	c.(730-732)ccC>ccT	p.P244P	PROKR1_ENST00000394342.2_Silent_p.P244P			Q8TCW9	PKR1_HUMAN	prokineticin receptor 1	244					negative regulation of apoptotic process (GO:0043066)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	neuropeptide Y receptor activity (GO:0004983)			endometrium(3)|kidney(2)|large_intestine(14)|lung(9)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						TCGTGGGCCCCGTGGTCACCA	0.567																																						ENST00000303786.3																			0				endometrium(3)|kidney(2)|large_intestine(14)|lung(9)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						c.(730-732)ccC>ccT		prokineticin receptor 1							93	89	91					2																	68882258		2203	4300	6503	SO:0001819	synonymous_variant	10887					integral to membrane|plasma membrane	neuropeptide Y receptor activity	g.chr2:68882258C>T	AF506287	CCDS1889.1	2p14	2012-08-08	2006-02-15	2006-02-15	ENSG00000169618	ENSG00000169618		"GPCR / Class A : Prokineticin receptors"	4524	protein-coding gene	gene with protein product		607122	"G protein-coupled receptor 73"	GPR73		10760605	Standard	NM_138964		Approved	PKR1, ZAQ, GPR73a	uc010yqj.2	Q8TCW9	OTTHUMG00000129567	ENST00000303786.3:c.732C>T	2.37:g.68882258C>T						PROKR1_ENST00000394342.2_Silent_p.P244P	p.P244P			Q8TCW9	PKR1_HUMAN			3	1152	+			244					A5JUU2|Q53QT9|Q8NFJ7	Silent	SNP	ENST00000303786.3	37	c.732C>T	CCDS1889.1																																																																																				0.567	PROKR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251760.2			21	30	0	0	0	1	0	21	30					T	68882258	C	T	68882258	2	4	435	1	0	0	0	0	0	0	0	1	12552	639	23	2		2	PROKR1	2	68882258	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	126	68882258	174317115	1113	22038											
ANTXR1	84168	broad.mit.edu	37	chr2	69409770	69409770	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcgtcggccttcttccccccGgaagtggtactctccaatca	6	10	9	16	3	3	0	1	0	2	0	6	1	4	1	5	3	1	1	5	3	3	3	rs376960445		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:69409770G>A	ENST00000303714.4	+	16	1653	c.1331G>A	c.(1330-1332)cGg>cAg	p.R444Q	RNA5SP96_ENST00000516041.1_RNA|RNU6-1216P_ENST00000362590.2_RNA	NM_032208.2	NP_115584.1	Q9H6X2	ANTR1_HUMAN	anthrax toxin receptor 1	444					actin cytoskeleton reorganization (GO:0031532)|reproductive process (GO:0022414)|signal transduction (GO:0007165)|substrate adhesion-dependent cell spreading (GO:0034446)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|filopodium membrane (GO:0031527)|integral component of membrane (GO:0016021)|lamellipodium membrane (GO:0031258)	actin filament binding (GO:0051015)|collagen binding (GO:0005518)|metal ion binding (GO:0046872)|transmembrane signaling receptor activity (GO:0004888)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	29						TCTTCCCCCCGGAAGTGGTAC	0.428									Familial Infantile Hemangioma				G|||	1	0.000199681	0	0	5008	,	,		18051	0.001		0	False		,,,				2504	0					ENST00000303714.4																			0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	29						c.(1330-1332)cGg>cAg		anthrax toxin receptor 1		G	GLN/ARG	0,4406		0,0,2203	101	100	100		1331	4	1	2		100	1,8599	1.2+/-3.3	0,1,4299	no	missense	ANTXR1	NM_032208.2	43	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	444/565	69409770	1,13005	2203	4300	6503	SO:0001583	missense	84168	Familial Infantile Hemangioma	Familial Cancer Database	Infantile Capillary Hemangioma, HCI, Hereditary Capillary Hemangioma	actin cytoskeleton reorganization|substrate adhesion-dependent cell spreading	filopodium membrane|integral to membrane|lamellipodium membrane	actin filament binding|collagen binding|metal ion binding|protein binding|transmembrane receptor activity	g.chr2:69409770G>A	AF421380	CCDS1892.1, CCDS46313.1, CCDS46314.1	2p13.1	2006-04-12			ENSG00000169604	ENSG00000169604			21014	protein-coding gene	gene with protein product	"anthrax toxin receptor", "tumor endothelial marker 8 precursor"	606410				10947988, 11559528	Standard	NM_032208		Approved	TEM8, FLJ21776, FLJ10601, ATR	uc002sfg.3	Q9H6X2	OTTHUMG00000129575	ENST00000303714.4:c.1331G>A	2.37:g.69409770G>A	ENSP00000301945:p.Arg444Gln						p.R444Q	NM_032208.2	NP_115584.1	Q9H6X2	ANTR1_HUMAN			16	1653	+			444					A8K7U8|J7K7G4|J7KF88|Q4ZFV6|Q53QD8|Q96P02|Q9NVP3	Missense_Mutation	SNP	ENST00000303714.4	37	c.1331G>A	CCDS1892.1	.	.	.	.	.	.	.	.	.	.	G	8.666	0.901723	0.17760	0.0	1.16E-4	ENSG00000169604	ENST00000303714	T	0.76709	-1.04	5.84	4.02	0.46733	Anthrax toxin receptor, C-terminal (2);	0.225560	0.46758	D	0.000264	T	0.69070	0.3070	L	0.33485	1.01	0.80722	D	1	P	0.44521	0.837	B	0.40410	0.328	T	0.66941	-0.5796	10	0.35671	T	0.21	-5.2559	15.7312	0.77807	0.0:0.2778:0.7222:0.0	.	444	Q9H6X2	ANTR1_HUMAN	Q	444	ENSP00000301945:R444Q	ENSP00000301945:R444Q	R	+	2	0	ANTXR1	69263274	0.998000	0.40836	0.964000	0.40570	0.027000	0.11550	2.180000	0.42537	0.778000	0.33520	-0.311000	0.09066	CGG		0.428	ANTXR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251770.2	NM_032208		22	37	0	0	0	1	0	22	37					A	69409770	G	A	69409770	3	1	435	1	0	0	0	0	1	0	0	0	711	1116	39	2	1470	2	ANTXR1	2	69409770	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	527512	69409770	173789603	1114	22039											
AAK1	22848	broad.mit.edu	37	chr2	69757829	69757829	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tctggtgctcgataggacagCgttgtgtatctacaatcaag	10	12	11	8	2	3	0	1	0	2	0	4	2	3	1	0	2	3	3	0	2	5	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:69757829C>T	ENST00000409085.4	-	7	1042	c.666G>A	c.(664-666)acG>acA	p.T222T	AAK1_ENST00000470281.1_5'Flank|AAK1_ENST00000409068.1_Silent_p.T222T|AAK1_ENST00000406297.3_Silent_p.T222T	NM_014911.3	NP_055726	Q2M2I8	AAK1_HUMAN	AP2 associated kinase 1	222	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				endocytosis (GO:0006897)|positive regulation of Notch signaling pathway (GO:0045747)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)|regulation of clathrin-mediated endocytosis (GO:2000369)|regulation of protein localization (GO:0032880)	cell leading edge (GO:0031252)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|extrinsic component of plasma membrane (GO:0019897)|terminal bouton (GO:0043195)	AP-2 adaptor complex binding (GO:0035612)|ATP binding (GO:0005524)|Notch binding (GO:0005112)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)	17						GATAGGACAGCGTTGTGTATC	0.358																																						ENST00000409085.4																			0				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)	17						c.(664-666)acG>acA		AP2 associated kinase 1							146	128	134					2																	69757829		1939	4136	6075	SO:0001819	synonymous_variant	22848					coated pit|mitochondrion|plasma membrane	ATP binding|protein serine/threonine kinase activity	g.chr2:69757829C>T	AB028971	CCDS1893.2	2p13.3	2012-07-10			ENSG00000115977	ENSG00000115977			19679	protein-coding gene	gene with protein product						11877461, 12471243	Standard	NM_014911		Approved	KIAA1048, DKFZp686K16132	uc002sfp.2	Q2M2I8	OTTHUMG00000129648	ENST00000409085.4:c.666G>A	2.37:g.69757829C>T						AAK1_ENST00000406297.3_Silent_p.T222T|AAK1_ENST00000409068.1_Silent_p.T222T	p.T222T	NM_014911.3	NP_055726.3	Q2M2I8	AAK1_HUMAN			7	1042	-			222			Protein kinase.		Q4ZFZ3|Q53RX6|Q9UPV4	Silent	SNP	ENST00000409085.4	37	c.666G>A	CCDS1893.2																																																																																				0.358	AAK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251847.4	NM_014911		15	38	0	0	0	1	0	15	38					T	69757829	C	T	69757829	2	4	435	1	0	0	0	0	0	0	0	1	16	755	27	1		1	AAK1	2	69757829	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	348059	69757829	173441544	1115	22040											
ANXA4	307	broad.mit.edu	37	chr2	70047882	70047882	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagtgatggtttctcgagcaGaaattgacatgttggatatc	11	13	12	5	1	1	3	0	2	1	1	3	6	1	4	0	2	1	3	0	2	2	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:70047882G>T	ENST00000394295.4	+	12	1083	c.835G>T	c.(835-837)Gaa>Taa	p.E279*	ANXA4_ENST00000536030.1_Nonsense_Mutation_p.E195*|ANXA4_ENST00000409920.1_Nonsense_Mutation_p.E257*	NM_001153.3	NP_001144.1	P09525	ANXA4_HUMAN	annexin A4	277					epithelial cell differentiation (GO:0030855)|negative regulation of apoptotic process (GO:0043066)|negative regulation of catalytic activity (GO:0043086)|negative regulation of interleukin-8 secretion (GO:2000483)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|vesicle membrane (GO:0012506)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|calcium-dependent protein binding (GO:0048306)|identical protein binding (GO:0042802)|NF-kappaB binding (GO:0051059)|phospholipase inhibitor activity (GO:0004859)			endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)	11						TTCTCGAGCAGAAATTGACAT	0.438																																						ENST00000394295.4																			0				endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)	11						c.(835-837)Gaa>Taa		annexin A4							157	146	150					2																	70047882		2203	4300	6503	SO:0001587	stop_gained	307				anti-apoptosis|signal transduction	cytoplasm	calcium ion binding|calcium-dependent phospholipid binding|phospholipase inhibitor activity	g.chr2:70047882G>T	M82809	CCDS1894.1	2p13.3	2008-02-05			ENSG00000196975	ENSG00000196975		"Annexins"	542	protein-coding gene	gene with protein product		106491		ANX4		1346776	Standard	NM_001153		Approved		uc002sfr.4	P09525	OTTHUMG00000129649	ENST00000394295.4:c.835G>T	2.37:g.70047882G>T	ENSP00000377833:p.Glu279*					ANXA4_ENST00000409920.1_Nonsense_Mutation_p.E257*|ANXA4_ENST00000536030.1_Nonsense_Mutation_p.E195*	p.E279*	NM_001153.3	NP_001144.1	P09525	ANXA4_HUMAN			12	1083	+			277					B4DDF9|Q96F33|Q9BWK1	Nonsense_Mutation	SNP	ENST00000394295.4	37	c.835G>T	CCDS1894.1	.	.	.	.	.	.	.	.	.	.	G	39	7.708238	0.98444	.	.	ENSG00000196975	ENST00000409920;ENST00000394295;ENST00000536030	.	.	.	5.85	5.85	0.93711	.	0.045721	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.6514	0.88165	0.0:0.0:1.0:0.0	.	.	.	.	X	257;279;195	.	.	E	+	1	0	ANXA4	69901386	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.405000	0.97313	2.773000	0.95371	0.650000	0.86243	GAA		0.438	ANXA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251848.2	NM_001153		43	50	1	0	7.88023e-25	1	8.79368e-25	43	50					T	70047882	G	T	70047882	4	4	435	1	0	0	0	0	0	1	0	0	720	943	33	5	877	5	ANXA4	2	70047882	Nonsense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	290053	70047882	173151491	1116	22041											
ASPRV1	151516	broad.mit.edu	37	chr2	70187991	70187991	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgatggcttcctcggcactcGcattggccactaggaactgt	7	11	11	12	2	0	1	0	1	0	0	3	2	1	2	2	4	1	3	2	4	2	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:70187991G>A	ENST00000320256.4	-	1	1406	c.830C>T	c.(829-831)gCg>gTg	p.A277V	PCBP1-AS1_ENST00000418564.1_RNA|PCBP1-AS1_ENST00000435880.2_RNA|PCBP1-AS1_ENST00000457076.1_RNA|PCBP1-AS1_ENST00000413436.1_RNA|PCBP1-AS1_ENST00000596259.1_RNA|PCBP1-AS1_ENST00000419542.1_RNA	NM_152792.2	NP_690005.2			aspartic peptidase, retroviral-like 1											endometrium(3)|large_intestine(4)|lung(6)|ovary(1)	14						CTCGGCACTCGCATTGGCCAC	0.537																																						ENST00000320256.4																			0				endometrium(3)|large_intestine(4)|lung(6)|ovary(1)	14						c.(829-831)gCg>gTg		aspartic peptidase, retroviral-like 1							125	108	114					2																	70187991		2203	4300	6503	SO:0001583	missense	151516				protein maturation by peptide bond cleavage|skin development		aspartic-type endopeptidase activity	g.chr2:70187991G>A	AK055994	CCDS1897.1	2p13.3	2008-02-20			ENSG00000244617	ENSG00000244617			26321	protein-coding gene	gene with protein product	"Skin ASpartic Protease"	611765				16098038, 16565508	Standard	NM_152792		Approved	Taps, SASPase, FLJ25084	uc002sfz.4	Q53RT3	OTTHUMG00000129647	ENST00000320256.4:c.830C>T	2.37:g.70187991G>A	ENSP00000315383:p.Ala277Val						p.A277V	NM_152792.2	NP_690005.2	Q53RT3	APRV1_HUMAN			1	1406	-			277			Peptidase A2.			Missense_Mutation	SNP	ENST00000320256.4	37	c.830C>T	CCDS1897.1	.	.	.	.	.	.	.	.	.	.	G	16.66	3.183872	0.57800	.	.	ENSG00000244617	ENST00000320256	T	0.47869	0.83	5.09	5.09	0.68999	Peptidase aspartic (1);Peptidase A2A, retrovirus, catalytic (1);Peptidase aspartic, eukaryotic predicted (1);	0.165910	0.27811	N	0.017756	T	0.51109	0.1655	N	0.14661	0.345	0.23204	N	0.998121	D	0.89917	1.0	D	0.91635	0.999	T	0.47355	-0.9124	10	0.51188	T	0.08	-11.2844	13.8664	0.63592	0.0:0.0:1.0:0.0	.	277	Q53RT3	APRV1_HUMAN	V	277	ENSP00000315383:A277V	ENSP00000315383:A277V	A	-	2	0	ASPRV1	70041495	0.723000	0.28027	0.160000	0.22671	0.552000	0.35366	3.180000	0.50895	2.646000	0.89796	0.655000	0.94253	GCG		0.537	ASPRV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334161.1	NM_152792		22	41	0	0	0	1	0	22	41					A	70187991	G	A	70187991	3	1	435	1	0	0	0	0	1	0	0	0	1058	1087	38	1	205	1	ASPRV1	2	70187991	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	140109	70187991	173011382	1117	22042											
ASPRV1	151516	broad.mit.edu	37	chr2	70188206	70188206	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccaccaggaacctcacgggCactttgccaatcttcccctt	8	10	6	17	1	2	0	1	0	1	0	4	1	4	1	6	2	2	1	6	2	2	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:70188206C>T	ENST00000320256.4	-	1	1191	c.615G>A	c.(613-615)gtG>gtA	p.V205V	PCBP1-AS1_ENST00000418564.1_RNA|PCBP1-AS1_ENST00000435880.2_RNA|PCBP1-AS1_ENST00000457076.1_RNA|PCBP1-AS1_ENST00000413436.1_RNA|PCBP1-AS1_ENST00000596259.1_RNA|PCBP1-AS1_ENST00000419542.1_RNA	NM_152792.2	NP_690005.2			aspartic peptidase, retroviral-like 1											endometrium(3)|large_intestine(4)|lung(6)|ovary(1)	14						ACCTCACGGGCACTTTGCCAA	0.602																																						ENST00000320256.4																			0				endometrium(3)|large_intestine(4)|lung(6)|ovary(1)	14						c.(613-615)gtG>gtA		aspartic peptidase, retroviral-like 1							84	86	85					2																	70188206		2203	4300	6503	SO:0001819	synonymous_variant	151516				protein maturation by peptide bond cleavage|skin development		aspartic-type endopeptidase activity	g.chr2:70188206C>T	AK055994	CCDS1897.1	2p13.3	2008-02-20			ENSG00000244617	ENSG00000244617			26321	protein-coding gene	gene with protein product	"Skin ASpartic Protease"	611765				16098038, 16565508	Standard	NM_152792		Approved	Taps, SASPase, FLJ25084	uc002sfz.4	Q53RT3	OTTHUMG00000129647	ENST00000320256.4:c.615G>A	2.37:g.70188206C>T							p.V205V	NM_152792.2	NP_690005.2	Q53RT3	APRV1_HUMAN			1	1191	-			205						Silent	SNP	ENST00000320256.4	37	c.615G>A	CCDS1897.1																																																																																				0.602	ASPRV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334161.1	NM_152792		19	37	0	0	0	1	0	19	37					T	70188206	C	T	70188206	2	4	435	1	0	0	0	0	0	0	0	1	1058	697	25	3		3	ASPRV1	2	70188206	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	215	70188206	173011167	1118	22043											
TIA1	7072	broad.mit.edu	37	chr2	70463280	70463280	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgcagaattagagcttctgtCacatctctggaaaggttacc	11	12	9	9	0	3	2	1	0	2	2	4	3	3	3	1	2	3	3	1	2	4	3	rs368195694		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:70463280C>T	ENST00000433529.2	-	2	264	c.54G>A	c.(52-54)gtG>gtA	p.V18V	TIA1_ENST00000445587.1_Silent_p.V18V|C2orf42_ENST00000470096.1_Intron|TIA1_ENST00000416149.2_Silent_p.V18V|TIA1_ENST00000282574.4_Silent_p.V18V|TIA1_ENST00000415783.2_Silent_p.V18V	NM_022173.2	NP_071505.2	P31483	TIA1_HUMAN	TIA1 cytotoxic granule-associated RNA binding protein	18	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				apoptotic process (GO:0006915)|negative regulation of cytokine biosynthetic process (GO:0042036)|negative regulation of translation (GO:0017148)|regulation of mRNA splicing, via spliceosome (GO:0048024)	cytoplasmic stress granule (GO:0010494)|nuclear stress granule (GO:0097165)	AU-rich element binding (GO:0017091)|nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)			endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|skin(1)|urinary_tract(1)	17						GAGCTTCTGTCACATCTCTGG	0.353																																						ENST00000433529.2																			0				endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|skin(1)|urinary_tract(1)	17						c.(52-54)gtG>gtA		TIA1 cytotoxic granule-associated RNA binding protein							90	91	91					2																	70463280		2203	4300	6503	SO:0001819	synonymous_variant	7072				apoptosis|induction of apoptosis|regulation of nuclear mRNA splicing, via spliceosome	nucleus	nucleotide binding|poly(A) RNA binding|protein binding	g.chr2:70463280C>T		CCDS1900.1, CCDS1901.1	2p13	2013-02-12	2001-11-28		ENSG00000116001	ENSG00000116001		"RNA binding motif (RRM) containing"	11802	protein-coding gene	gene with protein product	"T-cell-restricted intracellular antigen-1", "nucleolysin TIA-1 isoform p40"	603518	"TIA1 cytotoxic granule-associated RNA-binding protein"			8176212, 12486009	Standard	NM_022173		Approved		uc002sgj.4	P31483	OTTHUMG00000129644	ENST00000433529.2:c.54G>A	2.37:g.70463280C>T						TIA1_ENST00000445587.1_Silent_p.V18V|TIA1_ENST00000415783.2_Silent_p.V18V|TIA1_ENST00000416149.2_Silent_p.V18V|TIA1_ENST00000282574.4_Silent_p.V18V|C2orf42_ENST00000470096.1_Intron	p.V18V	NM_022173.2	NP_071505.2	P31483	TIA1_HUMAN			2	264	-			18			RRM 1.		Q53SS9	Silent	SNP	ENST00000433529.2	37	c.54G>A	CCDS1901.1	.	.	.	.	.	.	.	.	.	.	C	10.17	1.277337	0.23307	.	.	ENSG00000116001	ENST00000361692	.	.	.	5.57	4.69	0.59074	.	.	.	.	.	T	0.70753	0.3260	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.70200	-0.4937	4	.	.	.	-10.0977	15.179	0.72938	0.0:0.8582:0.1418:0.0	.	.	.	.	N	10	.	.	D	-	1	0	TIA1	70316784	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.194000	0.32174	1.341000	0.45600	0.484000	0.47621	GAC		0.353	TIA1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251842.2	NM_022037		19	36	0	0	0	1	0	19	36					T	70463280	C	T	70463280	2	4	435	1	0	0	0	0	0	0	0	1	15884	813	29	3		3	TIA1	2	70463280	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	275074	70463280	172736093	1119	22044											
PCYOX1	51449	broad.mit.edu	37	chr2	70502099	70502099	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcttttccaaaggatctaccGctaccagtctcatgactatg	10	13	6	12	1	3	1	1	1	3	0	5	2	4	2	3	1	2	1	3	1	4	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:70502099G>A	ENST00000433351.2	+	4	531	c.503G>A	c.(502-504)cGc>cAc	p.R168H	PCYOX1_ENST00000545138.1_Missense_Mutation_p.R90H|PCYOX1_ENST00000505044.2_Missense_Mutation_p.R91H|PCYOX1_ENST00000264441.5_Missense_Mutation_p.R168H	NM_016297.3	NP_057381.3	Q9UHG3	PCYOX_HUMAN	prenylcysteine oxidase 1	168					prenylated protein catabolic process (GO:0030327)|prenylcysteine catabolic process (GO:0030328)|prenylcysteine metabolic process (GO:0030329)	extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	chloride-transporting ATPase activity (GO:0008555)|prenylcysteine oxidase activity (GO:0001735)			breast(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)	15						AGGATCTACCGCTACCAGTCT	0.403																																						ENST00000433351.2																			0				breast(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)	15						c.(502-504)cGc>cAc		prenylcysteine oxidase 1							119	110	113					2																	70502099		2203	4300	6503	SO:0001583	missense	51449				prenylated protein catabolic process	lysosome|very-low-density lipoprotein particle	prenylcysteine oxidase activity	g.chr2:70502099G>A	AB020715	CCDS1902.1	2p13.3	2008-02-05			ENSG00000116005	ENSG00000116005	1.8.3.5		20588	protein-coding gene	gene with protein product		610995				10585463, 12186880	Standard	NM_016297		Approved	KIAA0908, PCL1	uc002sgn.4	Q9UHG3	OTTHUMG00000129671	ENST00000433351.2:c.503G>A	2.37:g.70502099G>A	ENSP00000387654:p.Arg168His					PCYOX1_ENST00000264441.5_Missense_Mutation_p.R168H|PCYOX1_ENST00000505044.2_Missense_Mutation_p.R91H|PCYOX1_ENST00000545138.1_Missense_Mutation_p.R90H	p.R168H	NM_016297.3	NP_057381.3	Q9UHG3	PCYOX_HUMAN			4	531	+			168					B2RB14|B7Z9P8|O94982|Q8N4N5|Q96QM8	Missense_Mutation	SNP	ENST00000433351.2	37	c.503G>A	CCDS1902.1	.	.	.	.	.	.	.	.	.	.	G	19.46	3.832688	0.71258	.	.	ENSG00000116005	ENST00000422380;ENST00000505044;ENST00000414812;ENST00000433351;ENST00000264441;ENST00000451279;ENST00000545138	T;T;T;T;T;T;T	0.15487	2.42;2.97;2.42;2.97;2.97;2.42;2.97	5.4	5.4	0.78164	Prenylcysteine lyase (1);	0.047613	0.85682	D	0.000000	T	0.35970	0.0950	L	0.49640	1.575	0.48341	D	0.999636	P;D	0.89917	0.68;1.0	B;D	0.68943	0.121;0.961	T	0.00538	-1.1682	10	0.35671	T	0.21	-9.0745	17.9005	0.88902	0.0:0.0:1.0:0.0	.	150;168	B7Z8A2;Q9UHG3	.;PCYOX_HUMAN	H	91;91;91;168;168;91;90	ENSP00000404327:R91H;ENSP00000441566:R91H;ENSP00000413178:R91H;ENSP00000387654:R168H;ENSP00000264441:R168H;ENSP00000408751:R91H;ENSP00000439916:R90H	ENSP00000264441:R168H	R	+	2	0	PCYOX1	70355603	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	7.405000	0.80007	2.811000	0.96726	0.555000	0.69702	CGC		0.403	PCYOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251872.3	NM_016297		26	34	0	0	0	1	0	26	34					A	70502099	G	A	70502099	3	1	435	1	0	0	0	0	1	0	0	0	11608	1087	38	1	517	1	PCYOX1	2	70502099	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	38819	70502099	172697274	1120	22045											
ADD2	119	broad.mit.edu	37	chr2	70903983	70903983	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggagctgggactgaggccccGctgacttcacatcttgtcgg	6	9	14	12	2	2	2	1	2	1	0	3	4	2	4	2	4	1	2	2	4	0	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:70903983G>A	ENST00000264436.4	-	13	1982	c.1538C>T	c.(1537-1539)gCg>gTg	p.A513V	ADD2_ENST00000413157.2_Missense_Mutation_p.A513V|ADD2_ENST00000430656.1_Missense_Mutation_p.A529V|ADD2_ENST00000407644.2_Missense_Mutation_p.A513V|ADD2_ENST00000355733.3_Missense_Mutation_p.A513V	NM_001617.3	NP_001608.1	P35612	ADDB_HUMAN	adducin 2 (beta)	513					actin cytoskeleton organization (GO:0030036)|actin filament bundle assembly (GO:0051017)|barbed-end actin filament capping (GO:0051016)|hemopoiesis (GO:0030097)|positive regulation of protein binding (GO:0032092)|protein complex assembly (GO:0006461)	cytoplasmic membrane-bounded vesicle (GO:0016023)|F-actin capping protein complex (GO:0008290)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|spectrin binding (GO:0030507)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(11)|lung(13)|ovary(3)|pancreas(1)|skin(2)	36						CTGAGGCCCCGCTGACTTCAC	0.602																																						ENST00000264436.3																			0				autonomic_ganglia(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(11)|lung(13)|ovary(3)|pancreas(1)|skin(2)	36						c.(1537-1539)gCg>gTg		adducin 2 (beta)							70	71	71					2																	70903983		2203	4300	6503	SO:0001583	missense	119				actin filament bundle assembly|barbed-end actin filament capping|positive regulation of protein binding	cytoplasm|F-actin capping protein complex|plasma membrane	actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding	g.chr2:70903983G>A	X58199	CCDS1906.1, CCDS1909.1, CCDS46318.1, CCDS54365.1	2p13.3	2008-02-05			ENSG00000075340	ENSG00000075340			244	protein-coding gene	gene with protein product		102681				1840603	Standard	NM_001617		Approved	ADDB	uc021vjc.1	P35612	OTTHUMG00000129710	ENST00000264436.4:c.1538C>T	2.37:g.70903983G>A	ENSP00000264436:p.Ala513Val					ADD2_ENST00000407644.2_Missense_Mutation_p.A513V|ADD2_ENST00000430656.1_Missense_Mutation_p.A529V|ADD2_ENST00000413157.2_Missense_Mutation_p.A513V|ADD2_ENST00000355733.3_Missense_Mutation_p.A513V	p.A513V	NM_001617.3	NP_001608.1	P35612	ADDB_HUMAN			13	1982	-			513					A8K4P2|B4DM17|D6W5G7|D6W5G8|Q13482|Q16412|Q59G82|Q5U5P4|Q6P0P2|Q6PGQ4|Q7Z688|Q7Z689|Q7Z690|Q7Z691	Missense_Mutation	SNP	ENST00000264436.4	37	c.1538C>T	CCDS1906.1	.	.	.	.	.	.	.	.	.	.	G	33	5.220356	0.95139	.	.	ENSG00000075340	ENST00000264436;ENST00000407644;ENST00000355733;ENST00000522886;ENST00000356565;ENST00000517596;ENST00000413157;ENST00000430656	T;T;T;T;T;T	0.21361	2.01;2.01;2.01;2.01;2.01;2.01	5.09	5.09	0.68999	.	0.000000	0.85682	D	0.000000	T	0.49677	0.1571	M	0.82056	2.57	0.58432	D	0.999995	D;D;D;D;D;D	0.89917	1.0;1.0;0.999;1.0;1.0;1.0	D;D;D;D;D;D	0.83275	0.973;0.994;0.953;0.973;0.987;0.996	T	0.53620	-0.8413	10	0.87932	D	0	-23.7626	16.036	0.80628	0.0:0.0:1.0:0.0	.	529;513;207;513;513;513	B4DM17;P35612-4;E9PAN1;Q05DK5;P35612;P35612-3	.;.;.;.;ADDB_HUMAN;.	V	513;513;513;207;513;207;513;529	ENSP00000264436:A513V;ENSP00000384677:A513V;ENSP00000347972:A513V;ENSP00000430243:A207V;ENSP00000388072:A513V;ENSP00000398112:A529V	ENSP00000264436:A513V	A	-	2	0	ADD2	70757491	1.000000	0.71417	0.573000	0.28510	0.967000	0.64934	8.946000	0.92992	2.646000	0.89796	0.655000	0.94253	GCG		0.602	ADD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251918.4	NM_001617		20	35	0	0	0	1	0	20	35					A	70903983	G	A	70903983	3	1	435	1	0	0	0	0	1	0	0	0	305	1087	38	1	835	1	ADD2	2	70903983	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	401884	70903983	172295390	1121	22046											
FIGLA	344018	broad.mit.edu	37	chr2	71012724	71012724	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtcttgccgaggatgtatgTgattcagaactgttgttact	8	16	11	6	1	2	2	1	1	1	1	2	4	2	3	1	1	3	3	1	1	3	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:71012724T>C	ENST00000332372.6	-	3	436	c.432A>G	c.(430-432)tcA>tcG	p.S144S		NM_001004311.3	NP_001004311.2	Q6QHK4	FIGLA_HUMAN	folliculogenesis specific basic helix-loop-helix	144					multicellular organismal development (GO:0007275)|oocyte development (GO:0048599)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|transcription factor binding (GO:0008134)			endometrium(2)|lung(3)	5						AGGATGTATGTGATTCAGAAC	0.418																																						ENST00000332372.6																			0				endometrium(2)|lung(3)	5						c.(430-432)tcA>tcG		folliculogenesis specific basic helix-loop-helix							427	417	421					2																	71012724		2016	4181	6197	SO:0001819	synonymous_variant	344018				multicellular organismal development|oocyte development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	transcription factor complex	DNA binding|transcription factor binding	g.chr2:71012724T>C	BC039536	CCDS46320.1	2p13.3	2013-05-21			ENSG00000183733	ENSG00000183733		"Basic helix-loop-helix proteins"	24669	protein-coding gene	gene with protein product	"factor in the germline alpha"	608697				12468641	Standard	NM_001004311		Approved	bHLHc8	uc002she.1	Q6QHK4	OTTHUMG00000153440	ENST00000332372.6:c.432A>G	2.37:g.71012724T>C							p.S144S	NM_001004311.3	NP_001004311.2	Q6QHK4	FIGLA_HUMAN			3	436	-			144						Silent	SNP	ENST00000332372.6	37	c.432A>G	CCDS46320.1																																																																																				0.418	FIGLA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331214.1	NM_001004311		33	196	0	0	0	1	0	33	196					C	71012724	T	C	71012724	2	2	435	1	0	0	0	0	0	0	0	1	5890	1683	59	4		4	FIGLA	2	71012724	Silent	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	108741	71012724	172186649	1122	22047											
CLEC4F	165530	broad.mit.edu	37	chr2	71047617	71047617	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggggtgcagggagacacaCtggttatctgtgcagaagcg	9	8	17	7	1	1	2	0	0	1	2	1	3	1	2	0	4	3	3	0	4	2	1	rs558668449		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:71047617C>T	ENST00000272367.2	-	1	115	c.39G>A	c.(37-39)caG>caA	p.Q13Q	CLEC4F_ENST00000426626.1_Silent_p.Q13Q	NM_001258027.1|NM_173535.2	NP_001244956.1|NP_775806.2	Q8N1N0	CLC4F_HUMAN	C-type lectin domain family 4, member F	13					endocytosis (GO:0006897)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			endometrium(1)|large_intestine(5)|lung(18)|ovary(5)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)	37						GGGAGACACACTGGTTATCTG	0.617																																					Colon(107;10 2157 6841 26035)	ENST00000272367.2																			0				endometrium(1)|large_intestine(5)|lung(18)|ovary(5)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)	37						c.(37-39)caG>caA		C-type lectin domain family 4, member F							107	77	87					2																	71047617		2203	4299	6502	SO:0001819	synonymous_variant	165530				endocytosis	integral to membrane	receptor activity|sugar binding	g.chr2:71047617C>T	AK096429	CCDS1910.1	2p13.3	2008-02-05	2005-02-09	2005-02-11	ENSG00000152672	ENSG00000152672		"C-type lectin domain containing"	25357	protein-coding gene	gene with protein product			"C-type (calcium dependent, carbohydrate-recognition domain) lectin, superfamily member 13"	CLECSF13		8889548, 1846367	Standard	NM_001258027		Approved	FLJ39110, KCLR	uc002shf.3	Q8N1N0	OTTHUMG00000129713	ENST00000272367.2:c.39G>A	2.37:g.71047617C>T						CLEC4F_ENST00000426626.1_Silent_p.Q13Q	p.Q13Q	NM_001258027.1|NM_173535.2	NP_001244956.1|NP_775806.2	Q8N1N0	CLC4F_HUMAN			1	115	-			13					A4QPA5	Silent	SNP	ENST00000272367.2	37	c.39G>A	CCDS1910.1																																																																																				0.617	CLEC4F-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251922.1	NM_173535		6	7	0	0	0	1	0	6	7					T	71047617	C	T	71047617	2	4	435	1	0	0	0	0	0	0	0	1	3516	564	20	3		3	CLEC4F	2	71047617	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	34893	71047617	172151756	1123	22048											
ZNF638	27332	broad.mit.edu	37	chr2	71577014	71577014	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtccttgaacccataaaatcCgtcaaccaatccattaacca	15	9	3	14	1	1	1	1	1	0	0	4	1	4	1	6	0	3	0	6	0	6	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:71577014C>T	ENST00000409544.1	+	2	1560	c.930C>T	c.(928-930)tcC>tcT	p.S310S	ZNF638_ENST00000355812.3_Silent_p.S310S|ZNF638_ENST00000410075.1_3'UTR|ZNF638_ENST00000264447.4_Silent_p.S310S|ZNF638_ENST00000377802.2_Silent_p.S310S	NM_001252612.1	NP_001239541.1	Q14966	ZN638_HUMAN	zinc finger protein 638	310					regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|lung(28)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	63						CCATAAAATCCGTCAACCAAT	0.418																																						ENST00000409544.1																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|lung(28)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	63						c.(928-930)tcC>tcT		zinc finger protein 638							133	136	135					2																	71577014		2203	4300	6503	SO:0001819	synonymous_variant	27332				RNA splicing	cytoplasm|nuclear speck	double-stranded DNA binding|nucleotide binding|RNA binding|zinc ion binding	g.chr2:71577014C>T	D83032	CCDS1917.1	2p13.1	2013-02-12	2004-07-29	2004-07-30	ENSG00000075292	ENSG00000075292		"RNA binding motif (RRM) containing"	17894	protein-coding gene	gene with protein product		614349	"zinc finger, matrin-like"	ZFML		8647861	Standard	NM_014497		Approved	NP220, MGC26130, Zfp638	uc002shy.3	Q14966	OTTHUMG00000129735	ENST00000409544.1:c.930C>T	2.37:g.71577014C>T						ZNF638_ENST00000355812.3_Silent_p.S310S|ZNF638_ENST00000410075.1_3'UTR|ZNF638_ENST00000377802.2_Silent_p.S310S|ZNF638_ENST00000264447.4_Silent_p.S310S	p.S310S	NM_001252612.1	NP_001239541.1	Q14966	ZN638_HUMAN			2	1560	+			310					B5MDV1|B7ZLD1|Q53R34|Q5XJ05|Q68DP3|Q6P2H2|Q7Z3T7|Q8NF92|Q8TCA1|Q9H2G1|Q9NP37	Silent	SNP	ENST00000409544.1	37	c.930C>T	CCDS1917.1																																																																																				0.418	ZNF638-002	NOVEL	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000327431.1	NM_014497		27	52	0	0	0	1	0	27	52					T	71577014	C	T	71577014	2	4	435	1	0	0	0	0	0	0	0	1	18052	639	23	2		2	ZNF638	2	71577014	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	529397	71577014	171622359	1124	22049											
ZNF638	27332	broad.mit.edu	37	chr2	71650194	71650194	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaattcctcttgtagcatccGcttcagtcagtattgaacaa	12	13	6	10	1	3	1	2	1	1	0	5	1	5	1	2	0	2	4	2	0	5	6			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:71650194G>A	ENST00000409544.1	+	22	4180	c.3550G>A	c.(3550-3552)Gct>Act	p.A1184T	ZNF638_ENST00000355812.3_Intron|ZNF638_ENST00000409407.1_Missense_Mutation_p.A124T|ZNF638_ENST00000264447.4_Missense_Mutation_p.A1184T	NM_001252612.1	NP_001239541.1	Q14966	ZN638_HUMAN	zinc finger protein 638	1184	Glu-rich.				regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|lung(28)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	63						TGTAGCATCCGCTTCAGTCAG	0.403																																						ENST00000409544.1																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|lung(28)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	63						c.(3550-3552)Gct>Act		zinc finger protein 638							100	99	99					2																	71650194		2203	4300	6503	SO:0001583	missense	27332				RNA splicing	cytoplasm|nuclear speck	double-stranded DNA binding|nucleotide binding|RNA binding|zinc ion binding	g.chr2:71650194G>A	D83032	CCDS1917.1	2p13.1	2013-02-12	2004-07-29	2004-07-30	ENSG00000075292	ENSG00000075292		"RNA binding motif (RRM) containing"	17894	protein-coding gene	gene with protein product		614349	"zinc finger, matrin-like"	ZFML		8647861	Standard	NM_014497		Approved	NP220, MGC26130, Zfp638	uc002shy.3	Q14966	OTTHUMG00000129735	ENST00000409544.1:c.3550G>A	2.37:g.71650194G>A	ENSP00000386433:p.Ala1184Thr					ZNF638_ENST00000409407.1_Missense_Mutation_p.A124T|ZNF638_ENST00000355812.3_Intron|ZNF638_ENST00000264447.4_Missense_Mutation_p.A1184T	p.A1184T	NM_001252612.1	NP_001239541.1	Q14966	ZN638_HUMAN			22	4180	+			1184			Glu-rich.		B5MDV1|B7ZLD1|Q53R34|Q5XJ05|Q68DP3|Q6P2H2|Q7Z3T7|Q8NF92|Q8TCA1|Q9H2G1|Q9NP37	Missense_Mutation	SNP	ENST00000409544.1	37	c.3550G>A	CCDS1917.1	.	.	.	.	.	.	.	.	.	.	G	0.003	-2.446538	0.00178	.	.	ENSG00000075292	ENST00000394137;ENST00000264447;ENST00000409544;ENST00000409407;ENST00000462695	T;T;T	0.31510	1.49;1.49;1.97	5.55	0.507	0.16967	.	0.469690	0.20124	N	0.098730	T	0.09202	0.0227	N	0.02539	-0.55	0.09310	N	0.999999	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.37454	-0.9705	10	0.06494	T	0.89	-1.1432	8.213	0.31494	0.6577:0.0:0.3423:0.0	.	1184;1184;1184	A8K583;Q14966-3;Q14966	.;.;ZN638_HUMAN	T	763;1184;1184;124;124	ENSP00000264447:A1184T;ENSP00000386433:A1184T;ENSP00000386813:A124T	ENSP00000264447:A1184T	A	+	1	0	ZNF638	71503702	0.001000	0.12720	0.103000	0.21229	0.021000	0.10359	0.505000	0.22642	0.133000	0.18654	-0.294000	0.09567	GCT		0.403	ZNF638-002	NOVEL	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000327431.1	NM_014497		34	36	0	0	0	1	0	34	36					A	71650194	G	A	71650194	3	1	435	1	0	0	0	0	1	0	0	0	18052	1087	38	1	3632	1	ZNF638	2	71650194	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	73180	71650194	171549179	1125	22050											
DYSF	8291	broad.mit.edu	37	chr2	71788950	71788950	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccagtacctgtaccagctgcGcacccatcacctgagccaaa	11	6	7	17	1	1	1	1	1	0	0	1	1	1	1	6	0	5	4	6	0	3	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:71788950G>A	ENST00000258104.3	+	23	2508	c.2231G>A	c.(2230-2232)cGc>cAc	p.R744H	DYSF_ENST00000409744.1_Missense_Mutation_p.R731H|DYSF_ENST00000409366.1_Missense_Mutation_p.R745H|DYSF_ENST00000409651.1_Missense_Mutation_p.R776H|DYSF_ENST00000413539.2_Missense_Mutation_p.R775H|DYSF_ENST00000410041.1_Missense_Mutation_p.R762H|DYSF_ENST00000409582.3_Missense_Mutation_p.R761H|DYSF_ENST00000394120.2_Missense_Mutation_p.R745H|DYSF_ENST00000409762.1_Missense_Mutation_p.R761H|DYSF_ENST00000429174.2_Missense_Mutation_p.R744H|DYSF_ENST00000410020.3_Missense_Mutation_p.R762H	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	744					plasma membrane repair (GO:0001778)|vesicle fusion (GO:0006906)	cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|phospholipid binding (GO:0005543)			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						TACCAGCTGCGCACCCATCAC	0.632																																						ENST00000258104.3																			0				autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						c.(2230-2232)cGc>cAc		dysferlin							143	109	121					2																	71788950		2203	4300	6503	SO:0001583	missense	8291					cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding	g.chr2:71788950G>A	AF075575	CCDS1918.1, CCDS46323.1, CCDS46324.1, CCDS46325.1, CCDS46326.1, CCDS46327.1, CCDS46328.1, CCDS46329.1, CCDS46330.1, CCDS46331.1, CCDS46332.1	2p13.3	2014-09-17	2013-09-12		ENSG00000135636	ENSG00000135636			3097	protein-coding gene	gene with protein product	"fer-1-like family member 1"	603009	"limb girdle muscular dystrophy 2B (autosomal recessive)"	LGMD2B		8320700	Standard	NM_003494		Approved	FER1L1	uc010fen.3	O75923	OTTHUMG00000129757	ENST00000258104.3:c.2231G>A	2.37:g.71788950G>A	ENSP00000258104:p.Arg744His					DYSF_ENST00000429174.2_Missense_Mutation_p.R744H|DYSF_ENST00000410020.3_Missense_Mutation_p.R762H|DYSF_ENST00000409762.1_Missense_Mutation_p.R761H|DYSF_ENST00000409744.1_Missense_Mutation_p.R731H|DYSF_ENST00000409651.1_Missense_Mutation_p.R776H|DYSF_ENST00000409366.1_Missense_Mutation_p.R745H|DYSF_ENST00000394120.2_Missense_Mutation_p.R745H|DYSF_ENST00000413539.2_Missense_Mutation_p.R775H|DYSF_ENST00000409582.3_Missense_Mutation_p.R761H|DYSF_ENST00000410041.1_Missense_Mutation_p.R762H	p.R744H	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN			23	2508	+			744					A0FK00|B1PZ70|B1PZ71|B1PZ72|B1PZ73|B1PZ74|B1PZ75|B1PZ76|B1PZ77|B1PZ78|B1PZ79|B1PZ80|B1PZ81|B3KQB9|O75696|Q09EX5|Q0H395|Q53QY3|Q53TD2|Q8TEL8|Q9UEN7	Missense_Mutation	SNP	ENST00000258104.3	37	c.2231G>A	CCDS1918.1	.	.	.	.	.	.	.	.	.	.	G	32	5.152980	0.94645	.	.	ENSG00000135636	ENST00000413539;ENST00000409762;ENST00000409582;ENST00000429174;ENST00000258104;ENST00000409651;ENST00000394120;ENST00000409744;ENST00000409366;ENST00000410020;ENST00000410041	D;D;D;D;D;D;D;D;D;D;D	0.97455	-4.39;-4.39;-4.39;-4.39;-4.39;-4.39;-4.39;-4.39;-4.39;-4.39;-4.39	5.34	5.34	0.76211	Ferlin A-domain (1);	0.000000	0.85682	D	0.000000	D	0.98220	0.9411	M	0.76328	2.33	0.80722	D	1	D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;0.998;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.97110	1.0;0.999;0.999;0.999;0.996;0.997;0.996;0.937;1.0;0.997;0.996;1.0;0.999;1.0	D	0.99047	1.0826	10	0.66056	D	0.02	-16.562	16.5302	0.84355	0.0:0.0:1.0:0.0	.	776;762;745;731;762;731;761;730;775;761;744;730;745;744	O75923-8;O75923-13;O75923-10;O75923-9;O75923-11;O75923-12;O75923-5;O75923-6;O75923-2;O75923-7;O75923-4;O75923-3;O75923-14;O75923	.;.;.;.;.;.;.;.;.;.;.;.;.;DYSF_HUMAN	H	775;761;761;744;744;776;745;731;745;762;762	ENSP00000407046:R775H;ENSP00000387137:R761H;ENSP00000386547:R761H;ENSP00000398305:R744H;ENSP00000258104:R744H;ENSP00000386683:R776H;ENSP00000377678:R745H;ENSP00000386285:R731H;ENSP00000386512:R745H;ENSP00000386881:R762H;ENSP00000386617:R762H	ENSP00000258104:R744H	R	+	2	0	DYSF	71642458	1.000000	0.71417	0.989000	0.46669	0.921000	0.55340	9.498000	0.97972	2.504000	0.84457	0.561000	0.74099	CGC		0.632	DYSF-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000251970.3	NM_003494		14	20	0	0	0	1	0	14	20					A	71788950	G	A	71788950	3	1	435	1	0	0	0	0	1	0	0	0	4859	1087	38	1	2513	1	DYSF	2	71788950	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	138756	71788950	171410423	1126	22051											
DYSF	8291	broad.mit.edu	37	chr2	71816734	71816734	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgtctccagggcggcgtgatGgatgacaagagtgaagattc	10	9	15	7	2	1	5	0	3	1	2	3	6	1	6	1	3	0	0	1	3	2	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:71816734G>T	ENST00000258104.3	+	31	3637	c.3360G>T	c.(3358-3360)atG>atT	p.M1120I	DYSF_ENST00000409744.1_Missense_Mutation_p.M1107I|DYSF_ENST00000409366.1_Missense_Mutation_p.M1121I|DYSF_ENST00000409651.1_Missense_Mutation_p.M1152I|DYSF_ENST00000413539.2_Missense_Mutation_p.M1151I|DYSF_ENST00000410041.1_Missense_Mutation_p.M1138I|DYSF_ENST00000409582.3_Missense_Mutation_p.M1137I|DYSF_ENST00000394120.2_Missense_Mutation_p.M1121I|DYSF_ENST00000409762.1_Missense_Mutation_p.M1137I|DYSF_ENST00000479049.2_3'UTR|DYSF_ENST00000429174.2_Missense_Mutation_p.M1120I|DYSF_ENST00000410020.3_Missense_Mutation_p.M1138I	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	1120					plasma membrane repair (GO:0001778)|vesicle fusion (GO:0006906)	cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|phospholipid binding (GO:0005543)			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						GCGGCGTGATGGATGACAAGA	0.572																																						ENST00000258104.3																			0				autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						c.(3358-3360)atG>atT		dysferlin							248	202	218					2																	71816734		2203	4300	6503	SO:0001583	missense	8291					cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding	g.chr2:71816734G>T	AF075575	CCDS1918.1, CCDS46323.1, CCDS46324.1, CCDS46325.1, CCDS46326.1, CCDS46327.1, CCDS46328.1, CCDS46329.1, CCDS46330.1, CCDS46331.1, CCDS46332.1	2p13.3	2014-09-17	2013-09-12		ENSG00000135636	ENSG00000135636			3097	protein-coding gene	gene with protein product	"fer-1-like family member 1"	603009	"limb girdle muscular dystrophy 2B (autosomal recessive)"	LGMD2B		8320700	Standard	NM_003494		Approved	FER1L1	uc010fen.3	O75923	OTTHUMG00000129757	ENST00000258104.3:c.3360G>T	2.37:g.71816734G>T	ENSP00000258104:p.Met1120Ile					DYSF_ENST00000429174.2_Missense_Mutation_p.M1120I|DYSF_ENST00000410020.3_Missense_Mutation_p.M1138I|DYSF_ENST00000409762.1_Missense_Mutation_p.M1137I|DYSF_ENST00000409744.1_Missense_Mutation_p.M1107I|DYSF_ENST00000409651.1_Missense_Mutation_p.M1152I|DYSF_ENST00000409366.1_Missense_Mutation_p.M1121I|DYSF_ENST00000394120.2_Missense_Mutation_p.M1121I|DYSF_ENST00000413539.2_Missense_Mutation_p.M1151I|DYSF_ENST00000409582.3_Missense_Mutation_p.M1137I|DYSF_ENST00000410041.1_Missense_Mutation_p.M1138I|DYSF_ENST00000479049.2_3'UTR	p.M1120I	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN			31	3637	+			1120					A0FK00|B1PZ70|B1PZ71|B1PZ72|B1PZ73|B1PZ74|B1PZ75|B1PZ76|B1PZ77|B1PZ78|B1PZ79|B1PZ80|B1PZ81|B3KQB9|O75696|Q09EX5|Q0H395|Q53QY3|Q53TD2|Q8TEL8|Q9UEN7	Missense_Mutation	SNP	ENST00000258104.3	37	c.3360G>T	CCDS1918.1	.	.	.	.	.	.	.	.	.	.	G	5.981	0.364975	0.11296	.	.	ENSG00000135636	ENST00000413539;ENST00000409762;ENST00000409582;ENST00000429174;ENST00000258104;ENST00000409651;ENST00000394120;ENST00000409744;ENST00000409366;ENST00000410020;ENST00000410041	D;D;D;D;D;D;D;D;D;D;D	0.82255	-1.59;-1.59;-1.59;-1.59;-1.59;-1.59;-1.59;-1.59;-1.59;-1.59;-1.59	4.94	3.13	0.36017	.	0.303702	0.23153	N	0.051327	T	0.67562	0.2906	N	0.16656	0.425	0.19575	N	0.999964	B;B;B;B;B;B;B;B;B;B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0	B;B;B;B;B;B;B;B;B;B;B;B;B;B	0.08055	0.0;0.0;0.0;0.0;0.002;0.003;0.002;0.0;0.0;0.003;0.0;0.0;0.0;0.0	T	0.57063	-0.7875	10	0.48119	T	0.1	-13.6355	6.6677	0.23050	0.0925:0.0:0.732:0.1754	.	1152;1138;1121;1107;1138;1107;1137;1106;1151;1137;1120;1106;1121;1120	O75923-8;O75923-13;O75923-10;O75923-9;O75923-11;O75923-12;O75923-5;O75923-6;O75923-2;O75923-7;O75923-4;O75923-3;O75923-14;O75923	.;.;.;.;.;.;.;.;.;.;.;.;.;DYSF_HUMAN	I	1151;1137;1137;1120;1120;1152;1121;1107;1121;1138;1138	ENSP00000407046:M1151I;ENSP00000387137:M1137I;ENSP00000386547:M1137I;ENSP00000398305:M1120I;ENSP00000258104:M1120I;ENSP00000386683:M1152I;ENSP00000377678:M1121I;ENSP00000386285:M1107I;ENSP00000386512:M1121I;ENSP00000386881:M1138I;ENSP00000386617:M1138I	ENSP00000258104:M1120I	M	+	3	0	DYSF	71670242	0.967000	0.33354	0.993000	0.49108	0.084000	0.17831	-0.002000	0.12924	0.591000	0.29711	-0.268000	0.10319	ATG		0.572	DYSF-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000251970.3	NM_003494		51	52	1	0	4.25531e-23	1	4.74031e-23	51	52					T	71816734	G	T	71816734	3	4	435	1	0	0	0	0	1	0	0	0	4859	1348	47	5	3674	5	DYSF	2	71816734	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	27784	71816734	171382639	1127	22052											
DYSF	8291	broad.mit.edu	37	chr2	71909728	71909728	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaagttcatcctgtggcggcGtttccggtgggccatcatcc	5	11	13	12	3	2	0	2	0	0	0	5	1	5	0	4	4	0	2	4	4	1	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:71909728G>A	ENST00000258104.3	+	54	6402	c.6125G>A	c.(6124-6126)cGt>cAt	p.R2042H	DYSF_ENST00000409744.1_Missense_Mutation_p.R2050H|DYSF_ENST00000409366.1_Missense_Mutation_p.R2064H|DYSF_ENST00000409651.1_Missense_Mutation_p.R2074H|DYSF_ENST00000413539.2_Missense_Mutation_p.R2073H|DYSF_ENST00000410041.1_Missense_Mutation_p.R2060H|DYSF_ENST00000409582.3_Missense_Mutation_p.R2080H|DYSF_ENST00000394120.2_Missense_Mutation_p.R2043H|DYSF_ENST00000409762.1_Missense_Mutation_p.R2059H|DYSF_ENST00000479049.2_3'UTR|DYSF_ENST00000429174.2_Missense_Mutation_p.R2063H|DYSF_ENST00000410020.3_Missense_Mutation_p.R2081H	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	2042			R -> C (in MMD1, LGMD2B and proximodistal myopathy). {ECO:0000269|PubMed:16100712, ECO:0000269|PubMed:16996541, ECO:0000269|PubMed:18853459, ECO:0000269|PubMed:9731526}.		plasma membrane repair (GO:0001778)|vesicle fusion (GO:0006906)	cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|phospholipid binding (GO:0005543)			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						CTGTGGCGGCGTTTCCGGTGG	0.582																																						ENST00000258104.3																			0				autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						c.(6124-6126)cGt>cAt		dysferlin							179	127	145					2																	71909728		2203	4300	6503	SO:0001583	missense	8291					cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding	g.chr2:71909728G>A	AF075575	CCDS1918.1, CCDS46323.1, CCDS46324.1, CCDS46325.1, CCDS46326.1, CCDS46327.1, CCDS46328.1, CCDS46329.1, CCDS46330.1, CCDS46331.1, CCDS46332.1	2p13.3	2014-09-17	2013-09-12		ENSG00000135636	ENSG00000135636			3097	protein-coding gene	gene with protein product	"fer-1-like family member 1"	603009	"limb girdle muscular dystrophy 2B (autosomal recessive)"	LGMD2B		8320700	Standard	NM_003494		Approved	FER1L1	uc010fen.3	O75923	OTTHUMG00000129757	ENST00000258104.3:c.6125G>A	2.37:g.71909728G>A	ENSP00000258104:p.Arg2042His					DYSF_ENST00000429174.2_Missense_Mutation_p.R2063H|DYSF_ENST00000410020.3_Missense_Mutation_p.R2081H|DYSF_ENST00000409762.1_Missense_Mutation_p.R2059H|DYSF_ENST00000409744.1_Missense_Mutation_p.R2050H|DYSF_ENST00000409651.1_Missense_Mutation_p.R2074H|DYSF_ENST00000409366.1_Missense_Mutation_p.R2064H|DYSF_ENST00000394120.2_Missense_Mutation_p.R2043H|DYSF_ENST00000413539.2_Missense_Mutation_p.R2073H|DYSF_ENST00000409582.3_Missense_Mutation_p.R2080H|DYSF_ENST00000410041.1_Missense_Mutation_p.R2060H|DYSF_ENST00000479049.2_3'UTR	p.R2042H	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN			54	6402	+			2042		R -> C (in MMD1, LGMD2B and proximodistal myopathy).			A0FK00|B1PZ70|B1PZ71|B1PZ72|B1PZ73|B1PZ74|B1PZ75|B1PZ76|B1PZ77|B1PZ78|B1PZ79|B1PZ80|B1PZ81|B3KQB9|O75696|Q09EX5|Q0H395|Q53QY3|Q53TD2|Q8TEL8|Q9UEN7	Missense_Mutation	SNP	ENST00000258104.3	37	c.6125G>A	CCDS1918.1	.	.	.	.	.	.	.	.	.	.	G	29.7	5.028731	0.93518	.	.	ENSG00000135636	ENST00000413539;ENST00000409762;ENST00000409582;ENST00000429174;ENST00000258104;ENST00000409651;ENST00000394120;ENST00000409744;ENST00000409366;ENST00000410020;ENST00000410041	D;D;D;D;D;D;D;D;D;D;D	0.83673	-1.75;-1.75;-1.75;-1.75;-1.75;-1.75;-1.75;-1.75;-1.75;-1.75;-1.75	5.1	5.1	0.69264	.	0.000000	0.85682	D	0.000000	D	0.90198	0.6936	M	0.70275	2.135	0.58432	D	0.999995	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.89917	0.977;1.0;1.0;1.0;1.0;0.984;1.0;1.0;0.984;1.0;0.998;0.999;1.0;1.0;1.0	P;D;D;D;D;P;D;D;P;D;D;D;D;D;D	0.91635	0.498;0.999;0.999;0.999;0.999;0.736;0.993;0.996;0.761;0.999;0.975;0.966;0.999;0.999;0.999	D	0.90191	0.4250	10	0.49607	T	0.09	-16.4755	16.3717	0.83364	0.0:0.0:1.0:0.0	.	806;2074;2081;2064;2029;2060;2050;2059;2049;2073;2080;2063;2028;2043;2042	B7Z8G4;O75923-8;O75923-13;O75923-10;O75923-9;O75923-11;O75923-12;O75923-5;O75923-6;O75923-2;O75923-7;O75923-4;O75923-3;O75923-14;O75923	.;.;.;.;.;.;.;.;.;.;.;.;.;.;DYSF_HUMAN	H	2073;2059;2080;2063;2042;2074;2043;2050;2064;2081;2060	ENSP00000407046:R2073H;ENSP00000387137:R2059H;ENSP00000386547:R2080H;ENSP00000398305:R2063H;ENSP00000258104:R2042H;ENSP00000386683:R2074H;ENSP00000377678:R2043H;ENSP00000386285:R2050H;ENSP00000386512:R2064H;ENSP00000386881:R2081H;ENSP00000386617:R2060H	ENSP00000258104:R2042H	R	+	2	0	DYSF	71763236	1.000000	0.71417	0.969000	0.41365	0.991000	0.79684	9.753000	0.98904	2.514000	0.84764	0.655000	0.94253	CGT		0.582	DYSF-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000251970.3	NM_003494		28	38	0	0	0	1	0	28	38					A	71909728	G	A	71909728	3	1	435	1	0	0	0	0	1	0	0	0	4859	1145	40	1	6598	1	DYSF	2	71909728	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	92994	71909728	171289645	1128	22053											
CYP26B1	56603	broad.mit.edu	37	chr2	72359683	72359683	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acgttcacgtctttgaacacGggcgctgtgtcatgggtgtc	6	12	13	10	4	3	1	2	1	1	0	4	1	3	1	0	2	1	2	0	2	1	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:72359683G>A	ENST00000001146.2	-	6	1415	c.1212C>T	c.(1210-1212)ccC>ccT	p.P404P	CYP26B1_ENST00000412253.1_Silent_p.P213P|CYP26B1_ENST00000546307.1_Silent_p.P329P	NM_001277742.1|NM_019885.2	NP_001264671.1|NP_063938.1	Q9NR63	CP26B_HUMAN	cytochrome P450, family 26, subfamily B, polypeptide 1	404					bone morphogenesis (GO:0060349)|cell fate determination (GO:0001709)|cellular response to retinoic acid (GO:0071300)|cornification (GO:0070268)|embryonic limb morphogenesis (GO:0030326)|establishment of skin barrier (GO:0061436)|male meiosis (GO:0007140)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|oxidation-reduction process (GO:0055114)|positive regulation of gene expression (GO:0010628)|positive regulation of tongue muscle cell differentiation (GO:2001037)|proximal/distal pattern formation (GO:0009954)|retinoic acid catabolic process (GO:0034653)|retinoic acid receptor signaling pathway (GO:0048384)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)|tongue morphogenesis (GO:0043587)|vitamin metabolic process (GO:0006766)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|retinoic acid 4-hydroxylase activity (GO:0008401)|retinoic acid binding (GO:0001972)			breast(1)|kidney(3)|large_intestine(2)|lung(16)|ovary(2)|prostate(2)|skin(2)	28						CTTTGAACACGGGCGCTGTGT	0.612																																						ENST00000001146.2																			0				breast(1)|kidney(3)|large_intestine(2)|lung(16)|ovary(2)|prostate(2)|skin(2)	28						c.(1210-1212)ccC>ccT		cytochrome P450, family 26, subfamily B, polypeptide 1							42	38	39					2																	72359683		2203	4300	6503	SO:0001819	synonymous_variant	56603				cell fate determination|embryonic limb morphogenesis|male meiosis|negative regulation of retinoic acid receptor signaling pathway|proximal/distal pattern formation|retinoic acid catabolic process|spermatogenesis|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|retinoic acid 4-hydroxylase activity|retinoic acid binding	g.chr2:72359683G>A		CCDS1919.1, CCDS62934.1	2p12	2006-11-24			ENSG00000003137	ENSG00000003137		"Cytochrome P450s"	20581	protein-coding gene	gene with protein product		605207				10545224	Standard	NM_019885		Approved	P450RAI-2	uc002sih.2	Q9NR63	OTTHUMG00000129756	ENST00000001146.2:c.1212C>T	2.37:g.72359683G>A						CYP26B1_ENST00000412253.1_Silent_p.P213P|CYP26B1_ENST00000546307.1_Silent_p.P329P	p.P404P	NM_001277742.1|NM_019885.2	NP_001264671.1|NP_063938.1	Q9NR63	CP26B_HUMAN			6	1415	-			404					B2R8M7|B7Z2K6|B7Z2P4|B7Z3B8|E4W5W7|Q32MC0|Q53TW1|Q9NP41	Silent	SNP	ENST00000001146.2	37	c.1212C>T	CCDS1919.1																																																																																				0.612	CYP26B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251969.1	NM_019885		3	13	0	0	0	1	0	3	13					A	72359683	G	A	72359683	2	1	435	1	0	0	0	0	0	0	0	1	4156	1103	39	2		2	CYP26B1	2	72359683	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	449955	72359683	170839690	1129	22054											
EXOC6B	23233	broad.mit.edu	37	chr2	72562096	72562096	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ttgtctcaagtcgatgaaggCcaactgcagcgtgtcctcct	8	11	10	12	2	1	1	1	1	1	0	5	2	3	1	3	1	3	1	3	1	3	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:72562096C>T	ENST00000272427.6	-	20	2306	c.2176G>A	c.(2176-2178)Gcc>Acc	p.A726T	EXOC6B_ENST00000490919.1_5'UTR	NM_015189.1	NP_056004.1	Q9Y2D4	EXC6B_HUMAN	exocyst complex component 6B	726					protein transport (GO:0015031)|vesicle docking involved in exocytosis (GO:0006904)	exocyst (GO:0000145)				breast(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)	10						TCGATGAAGGCCAACTGCAGC	0.448																																						ENST00000272427.6																			0				breast(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)	10						c.(2176-2178)Gcc>Acc		exocyst complex component 6B							93	96	95					2																	72562096		1903	4127	6030	SO:0001583	missense	23233				protein transport|vesicle docking involved in exocytosis	exocyst		g.chr2:72562096C>T	AB023136	CCDS46333.1	2p13.2	2013-01-22	2006-11-07	2006-11-07	ENSG00000144036	ENSG00000144036			17085	protein-coding gene	gene with protein product		607880	"SEC15-like 2 (S. cerevisiae)", "SEC15 homolog B (S. cerevisiae)"	SEC15L2, SEC15B		10231032, 11406615	Standard	NM_015189		Approved	KIAA0919	uc010fep.3	Q9Y2D4	OTTHUMG00000152723	ENST00000272427.6:c.2176G>A	2.37:g.72562096C>T	ENSP00000272427:p.Ala726Thr					EXOC6B_ENST00000490919.1_5'UTR	p.A726T	NM_015189.1	NP_056004.1	Q9Y2D4	EXC6B_HUMAN			20	2306	-			726					B8ZZY3	Missense_Mutation	SNP	ENST00000272427.6	37	c.2176G>A	CCDS46333.1	.	.	.	.	.	.	.	.	.	.	C	12.17	1.858543	0.32791	.	.	ENSG00000144036	ENST00000272427	T	0.26518	1.73	5.98	5.98	0.97165	.	.	.	.	.	T	0.35653	0.0939	L	0.28274	0.84	0.80722	D	1	D	0.69078	0.997	D	0.79108	0.992	T	0.02098	-1.1214	9	0.06099	T	0.92	.	18.993	0.92801	0.0:1.0:0.0:0.0	.	726	Q9Y2D4	EXC6B_HUMAN	T	726	ENSP00000272427:A726T	ENSP00000272427:A726T	A	-	1	0	EXOC6B	72415604	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.539000	0.82063	2.839000	0.97877	0.650000	0.86243	GCC		0.448	EXOC6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327558.1	XM_039570		5	41	0	0	0	1	0	5	41					T	72562096	C	T	72562096	3	4	435	1	0	0	0	0	1	0	0	0	5309	739	26	3	271	3	EXOC6B	2	72562096	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	202413	72562096	170637277	1130	22055											
ALMS1	7840	broad.mit.edu	37	chr2	73677127	73677127	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cagcattttccaccagcaggCcttgccaggtactcatatac	10	10	7	14	0	1	0	1	0	0	0	2	0	2	0	4	2	5	3	4	2	3	6			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:73677127C>T	ENST00000264448.6	+	8	3581	c.3470C>T	c.(3469-3471)gCc>gTc	p.A1157V	ALMS1_ENST00000409009.1_Missense_Mutation_p.A1115V|ALMS1_ENST00000377715.1_Missense_Mutation_p.A1157V	NM_015120.4	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	1157	34 X 47 AA approximate tandem repeat.				endosomal transport (GO:0016197)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of stress fiber assembly (GO:0051492)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						CACCAGCAGGCCTTGCCAGGT	0.478																																						ENST00000264448.6																			0				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						c.(3469-3471)gCc>gTc		Alstrom syndrome 1							158	154	155					2																	73677127		1846	4091	5937	SO:0001583	missense	7840				G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole		g.chr2:73677127C>T	AB002326	CCDS42697.1	2p13.1	2014-09-17			ENSG00000116127	ENSG00000116127			428	protein-coding gene	gene with protein product		606844				9063741	Standard	NM_015120		Approved	KIAA0328	uc002sje.1	Q8TCU4	OTTHUMG00000152812	ENST00000264448.6:c.3470C>T	2.37:g.73677127C>T	ENSP00000264448:p.Ala1157Val					ALMS1_ENST00000409009.1_Missense_Mutation_p.A1115V|ALMS1_ENST00000377715.1_Missense_Mutation_p.A1157V	p.A1157V	NM_015120.4	NP_055935.4	Q8TCU4	ALMS1_HUMAN			8	3581	+			1157			34 X 47 AA approximate tandem repeat.		Q53S05|Q580Q8|Q86VP9|Q9Y4G4	Missense_Mutation	SNP	ENST00000264448.6	37	c.3470C>T	CCDS42697.1	.	.	.	.	.	.	.	.	.	.	C	10.05	1.244971	0.22796	.	.	ENSG00000116127	ENST00000409009;ENST00000264448;ENST00000377715	T;T;T	0.14893	3.36;3.36;2.47	3.94	-7.87	0.01183	.	2.855760	0.01058	N	0.004585	T	0.08492	0.0211	N	0.16790	0.44	0.09310	N	1	D;B;B	0.53745	0.962;0.003;0.065	B;B;B	0.44108	0.441;0.003;0.05	T	0.37709	-0.9694	10	0.24483	T	0.36	.	0.6903	0.00890	0.4067:0.2053:0.1827:0.2054	.	1157;1115;1157	Q8TCU4-3;B8ZZJ3;Q8TCU4	.;.;ALMS1_HUMAN	V	1115;1157;1157	ENSP00000386627:A1115V;ENSP00000264448:A1157V;ENSP00000366944:A1157V	ENSP00000264448:A1157V	A	+	2	0	ALMS1	73530635	0.000000	0.05858	0.000000	0.03702	0.013000	0.08279	-8.088000	0.00025	-2.485000	0.00520	-0.397000	0.06425	GCC		0.478	ALMS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000327776.1	NM_015120		70	134	0	0	0	1	0	70	134					T	73677127	C	T	73677127	3	4	435	1	0	0	0	0	1	0	0	0	535	739	26	3	3500	3	ALMS1	2	73677127	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	1115031	73677127	169522246	1131	22056											
STAMBP	10617	broad.mit.edu	37	chr2	74086401	74086401	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	actcaccccacacagaccgcGtttctctccagtgtcgacct	8	9	6	18	3	2	1	1	0	1	1	5	2	3	1	5	0	0	1	5	0	0	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:74086401G>A	ENST00000394070.2	+	8	1529	c.1026G>A	c.(1024-1026)gcG>gcA	p.A342A	STAMBP_ENST00000486458.1_3'UTR|STAMBP_ENST00000394073.1_Silent_p.A342A|STAMBP_ENST00000409707.1_Silent_p.A342A|STAMBP_ENST00000339566.3_Silent_p.A342A	NM_213622.2	NP_998787.1	O95630	STABP_HUMAN	STAM binding protein	342	MPN.				JAK-STAT cascade (GO:0007259)|mitotic cytokinesis (GO:0000281)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of cell proliferation (GO:0008284)|protein deubiquitination (GO:0016579)	cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|ubiquitin-specific protease activity (GO:0004843)			NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	18						CACAGACCGCGTTTCTCTCCA	0.493																																						ENST00000394070.2																			0				NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	18						c.(1024-1026)gcG>gcA		STAM binding protein							326	307	314					2																	74086401		2203	4300	6503	SO:0001819	synonymous_variant	10617				JAK-STAT cascade|positive regulation of cell proliferation	early endosome|membrane|nucleus	metal ion binding|metallopeptidase activity|protein binding	g.chr2:74086401G>A	BC007682	CCDS1929.1	2p24.3-p24.1	2008-02-05			ENSG00000124356	ENSG00000124356			16950	protein-coding gene	gene with protein product		606247				10383417	Standard	NM_006463		Approved	AMSH	uc002sjs.3	O95630	OTTHUMG00000129817	ENST00000394070.2:c.1026G>A	2.37:g.74086401G>A						STAMBP_ENST00000339566.3_Silent_p.A342A|STAMBP_ENST00000486458.1_3'UTR|STAMBP_ENST00000394073.1_Silent_p.A342A|STAMBP_ENST00000409707.1_Silent_p.A342A	p.A342A	NM_213622.2	NP_998787.1	O95630	STABP_HUMAN			8	1529	+			342			MPN.		B5M0B6|D6W5H7|Q3MJE7	Silent	SNP	ENST00000394070.2	37	c.1026G>A	CCDS1929.1																																																																																				0.493	STAMBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252048.2	NM_006463		93	122	0	0	0	1	0	93	122					A	74086401	G	A	74086401	2	1	435	1	0	0	0	0	0	0	0	1	15249	1132	40	1		1	STAMBP	2	74086401	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	409274	74086401	169112972	1132	22057											
TET3	200424	broad.mit.edu	37	chr2	74300738	74300738	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggatctggccccacggtcGcctctatccgggaactcatg	6	9	12	14	3	3	0	1	0	2	0	5	2	4	2	4	4	1	0	4	4	2	1	rs186320730		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:74300738G>A	ENST00000409262.3	+	2	2152	c.2152G>A	c.(2152-2154)Gcc>Acc	p.A718T		NM_144993.1	NP_659430.1	O43151	TET3_HUMAN	tet methylcytosine dioxygenase 3	718					DNA demethylation (GO:0080111)|DNA demethylation of male pronucleus (GO:0044727)|histone H3-K4 trimethylation (GO:0080182)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein O-linked glycosylation (GO:0006493)	cytoplasm (GO:0005737)|female pronucleus (GO:0001939)|male pronucleus (GO:0001940)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methylcytosine dioxygenase activity (GO:0070579)			NS(1)|breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						CCCCACGGTCGCCTCTATCCG	0.448													G|||	1	0.000199681	0	0	5008	,	,		18354	0		0.001	False		,,,				2504	0					ENST00000409262.3																			0				NS(1)|breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						c.(2152-2154)Gcc>Acc		tet methylcytosine dioxygenase 3							41	45	44					2																	74300738		1857	4094	5951	SO:0001583	missense	200424						metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr2:74300738G>A		CCDS46339.1, CCDS46339.2	2p13.1	2011-09-30	2011-09-30		ENSG00000187605	ENSG00000187605			28313	protein-coding gene	gene with protein product		613555	"tet oncogene family member 3"			9455477	Standard	XM_005264187		Approved	MGC22014, hCG_40738	uc031roi.1	O43151	OTTHUMG00000152823	ENST00000409262.3:c.2152G>A	2.37:g.74300738G>A	ENSP00000386869:p.Ala718Thr						p.A718T	NM_144993.1	NP_659430.1	O43151	TET3_HUMAN			2	2152	+			718					A6NEI3|Q86Z24|Q8TBM9	Missense_Mutation	SNP	ENST00000409262.3	37	c.2152G>A	CCDS46339.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	29.4	5.006168	0.93287	.	.	ENSG00000187605	ENST00000409262;ENST00000233310	T	0.38887	1.11	5.36	5.36	0.76844	TET cysteine-rich domain (1);	.	.	.	.	T	0.63402	0.2508	M	0.72894	2.215	0.49213	D	0.999762	D	0.76494	0.999	D	0.65443	0.935	T	0.62964	-0.6742	9	0.49607	T	0.09	.	18.0225	0.89259	0.0:0.0:1.0:0.0	.	718	O43151	TET3_HUMAN	T	718	ENSP00000386869:A718T	ENSP00000233310:A718T	A	+	1	0	TET3	74154246	1.000000	0.71417	0.973000	0.42090	0.981000	0.71138	5.974000	0.70465	2.763000	0.94921	0.655000	0.94253	GCC		0.448	TET3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328141.4			5	9	0	0	0	1	0	5	9					A	74300738	G	A	74300738	3	1	435	1	0	0	0	0	1	0	0	0	15768	1087	38	1	2158	1	TET3	2	74300738	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	214337	74300738	168898635	1133	22058											
TET3	200424	broad.mit.edu	37	chr2	74327724	74327724	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctatgcacagcccagcctgaCctccgtcaatggcttccact	8	9	7	17	1	1	1	1	1	0	0	3	1	3	1	5	1	3	2	5	1	2	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:74327724C>T	ENST00000409262.3	+	9	3404	c.3404C>T	c.(3403-3405)aCc>aTc	p.T1135I		NM_144993.1	NP_659430.1	O43151	TET3_HUMAN	tet methylcytosine dioxygenase 3	1135					DNA demethylation (GO:0080111)|DNA demethylation of male pronucleus (GO:0044727)|histone H3-K4 trimethylation (GO:0080182)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein O-linked glycosylation (GO:0006493)	cytoplasm (GO:0005737)|female pronucleus (GO:0001939)|male pronucleus (GO:0001940)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methylcytosine dioxygenase activity (GO:0070579)			NS(1)|breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						CCCAGCCTGACCTCCGTCAAT	0.577																																						ENST00000409262.3																			0				NS(1)|breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						c.(3403-3405)aCc>aTc		tet methylcytosine dioxygenase 3							74	80	78					2																	74327724		2149	4263	6412	SO:0001583	missense	200424						metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr2:74327724C>T		CCDS46339.1, CCDS46339.2	2p13.1	2011-09-30	2011-09-30		ENSG00000187605	ENSG00000187605			28313	protein-coding gene	gene with protein product		613555	"tet oncogene family member 3"			9455477	Standard	XM_005264187		Approved	MGC22014, hCG_40738	uc031roi.1	O43151	OTTHUMG00000152823	ENST00000409262.3:c.3404C>T	2.37:g.74327724C>T	ENSP00000386869:p.Thr1135Ile						p.T1135I	NM_144993.1	NP_659430.1	O43151	TET3_HUMAN			9	3404	+			1135					A6NEI3|Q86Z24|Q8TBM9	Missense_Mutation	SNP	ENST00000409262.3	37	c.3404C>T	CCDS46339.1	.	.	.	.	.	.	.	.	.	.	C	3.647	-0.072300	0.07228	.	.	ENSG00000187605	ENST00000409262;ENST00000233310	T	0.12147	2.71	4.93	2.94	0.34122	Methylcytosine dioxygenase TET, double-stranded beta helix fold domain (1);	1.398810	0.04210	N	0.331563	T	0.12860	0.0312	N	0.19112	0.55	0.26733	N	0.97056	B	0.27316	0.175	B	0.21546	0.035	T	0.39143	-0.9628	10	0.54805	T	0.06	.	14.373	0.66854	0.0:0.7211:0.2789:0.0	.	1135	O43151	TET3_HUMAN	I	1135	ENSP00000386869:T1135I	ENSP00000233310:T1135I	T	+	2	0	TET3	74181232	0.998000	0.40836	0.637000	0.29366	0.613000	0.37349	3.207000	0.51106	1.152000	0.42452	0.655000	0.94253	ACC		0.577	TET3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328141.4			3	10	0	0	0	1	0	3	10					T	74327724	C	T	74327724	3	4	435	1	0	0	0	0	1	0	0	0	15768	507	18	3	3438	3	TET3	2	74327724	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	26986	74327724	168871649	1134	22059											
TET3	200424	broad.mit.edu	37	chr2	74327797	74327797	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctttccatccagcaacccCgtcttcccctctcagttcct	5	12	5	19	1	2	0	1	0	2	0	7	0	6	0	7	1	2	3	7	1	1	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:74327797C>T	ENST00000409262.3	+	9	3477	c.3477C>T	c.(3475-3477)ccC>ccT	p.P1159P		NM_144993.1	NP_659430.1	O43151	TET3_HUMAN	tet methylcytosine dioxygenase 3	1159					DNA demethylation (GO:0080111)|DNA demethylation of male pronucleus (GO:0044727)|histone H3-K4 trimethylation (GO:0080182)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein O-linked glycosylation (GO:0006493)	cytoplasm (GO:0005737)|female pronucleus (GO:0001939)|male pronucleus (GO:0001940)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methylcytosine dioxygenase activity (GO:0070579)			NS(1)|breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						CCAGCAACCCCGTCTTCCCCT	0.577																																						ENST00000409262.3																			0				NS(1)|breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						c.(3475-3477)ccC>ccT		tet methylcytosine dioxygenase 3							74	76	75					2																	74327797		2098	4205	6303	SO:0001819	synonymous_variant	200424						metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr2:74327797C>T		CCDS46339.1, CCDS46339.2	2p13.1	2011-09-30	2011-09-30		ENSG00000187605	ENSG00000187605			28313	protein-coding gene	gene with protein product		613555	"tet oncogene family member 3"			9455477	Standard	XM_005264187		Approved	MGC22014, hCG_40738	uc031roi.1	O43151	OTTHUMG00000152823	ENST00000409262.3:c.3477C>T	2.37:g.74327797C>T							p.P1159P	NM_144993.1	NP_659430.1	O43151	TET3_HUMAN			9	3477	+			1159					A6NEI3|Q86Z24|Q8TBM9	Silent	SNP	ENST00000409262.3	37	c.3477C>T	CCDS46339.1																																																																																				0.577	TET3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328141.4			11	22	0	0	0	1	0	11	22					T	74327797	C	T	74327797	2	4	435	1	0	0	0	0	0	0	0	1	15768	639	23	2		2	TET3	2	74327797	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	73	74327797	168871576	1135	22060											
TET3	200424	broad.mit.edu	37	chr2	74328451	74328451	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggacggctgcgaggcaaaccGtggagcccctgcaagtttgg	8	6	16	11	3	0	0	0	0	0	0	0	3	0	2	3	5	4	4	3	5	2	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:74328451G>A	ENST00000409262.3	+	9	4131	c.4131G>A	c.(4129-4131)ccG>ccA	p.P1377P		NM_144993.1	NP_659430.1	O43151	TET3_HUMAN	tet methylcytosine dioxygenase 3	1377					DNA demethylation (GO:0080111)|DNA demethylation of male pronucleus (GO:0044727)|histone H3-K4 trimethylation (GO:0080182)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein O-linked glycosylation (GO:0006493)	cytoplasm (GO:0005737)|female pronucleus (GO:0001939)|male pronucleus (GO:0001940)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methylcytosine dioxygenase activity (GO:0070579)			NS(1)|breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						GAGGCAAACCGTGGAGCCCCT	0.677																																						ENST00000409262.3																			0				NS(1)|breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						c.(4129-4131)ccG>ccA		tet methylcytosine dioxygenase 3							24	31	29					2																	74328451		1912	4119	6031	SO:0001819	synonymous_variant	200424						metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr2:74328451G>A		CCDS46339.1, CCDS46339.2	2p13.1	2011-09-30	2011-09-30		ENSG00000187605	ENSG00000187605			28313	protein-coding gene	gene with protein product		613555	"tet oncogene family member 3"			9455477	Standard	XM_005264187		Approved	MGC22014, hCG_40738	uc031roi.1	O43151	OTTHUMG00000152823	ENST00000409262.3:c.4131G>A	2.37:g.74328451G>A							p.P1377P	NM_144993.1	NP_659430.1	O43151	TET3_HUMAN			9	4131	+			1377					A6NEI3|Q86Z24|Q8TBM9	Silent	SNP	ENST00000409262.3	37	c.4131G>A	CCDS46339.1																																																																																				0.677	TET3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328141.4			11	14	0	0	0	1	0	11	14					A	74328451	G	A	74328451	2	1	435	1	0	0	0	0	0	0	0	1	15768	1132	40	1		1	TET3	2	74328451	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	654	74328451	168870922	1136	22061											
MTHFD2	10797	broad.mit.edu	37	chr2	74441226	74441226	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gagtcagacaaaaagctgggTatatcactccagttcctgga	13	9	10	9	0	2	1	2	0	0	1	4	3	4	2	2	2	1	3	2	2	4	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:74441226T>C	ENST00000394053.2	+	8	990	c.910T>C	c.(910-912)Tat>Cat	p.Y304H	MTHFD2_ENST00000409601.1_Missense_Mutation_p.Y221H|RP11-287D1.3_ENST00000451608.2_Intron|MTHFD2_ENST00000394050.3_Missense_Mutation_p.Y140H|MTHFD2_ENST00000264090.4_Missense_Mutation_p.Y202H|SLC4A5_ENST00000483195.1_5'Flank|MTHFD2_ENST00000409804.1_Missense_Mutation_p.Y176H	NM_006636.3	NP_006627.2	P13995	MTDC_HUMAN	methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 2, methenyltetrahydrofolate cyclohydrolase	304					folic acid-containing compound biosynthetic process (GO:0009396)|one-carbon metabolic process (GO:0006730)|tetrahydrofolate metabolic process (GO:0046653)	extracellular space (GO:0005615)|mitochondrion (GO:0005739)	magnesium ion binding (GO:0000287)|methenyltetrahydrofolate cyclohydrolase activity (GO:0004477)|methylenetetrahydrofolate dehydrogenase (NAD+) activity (GO:0004487)|methylenetetrahydrofolate dehydrogenase (NADP+) activity (GO:0004488)|phosphate ion binding (GO:0042301)			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)	6					Tetrahydrofolic acid(DB00116)	AAAAGCTGGGTATATCACTCC	0.423																																						ENST00000394053.2																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(3)	6						c.(910-912)Tat>Cat		methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 2, methenyltetrahydrofolate cyclohydrolase	NADH(DB00157)|Tetrahydrofolic acid(DB00116)						106	115	112					2																	74441226		2055	4226	6281	SO:0001583	missense	10797				folic acid-containing compound biosynthetic process|one-carbon metabolic process|tetrahydrofolate metabolic process	mitochondrion	magnesium ion binding|methenyltetrahydrofolate cyclohydrolase activity|methylenetetrahydrofolate dehydrogenase (NAD+) activity|methylenetetrahydrofolate dehydrogenase (NADP+) activity|phosphate binding|protein binding	g.chr2:74441226T>C	X16396	CCDS1935.2	2p13.1	2008-05-02			ENSG00000065911	ENSG00000065911			7434	protein-coding gene	gene with protein product		604887				2587219, 8218174	Standard	NR_027405		Approved		uc002skk.3	P13995	OTTHUMG00000129814	ENST00000394053.2:c.910T>C	2.37:g.74441226T>C	ENSP00000377617:p.Tyr304His					MTHFD2_ENST00000264090.4_Missense_Mutation_p.Y202H|RP11-287D1.3_ENST00000451608.2_Intron|MTHFD2_ENST00000409601.1_Missense_Mutation_p.Y221H|MTHFD2_ENST00000394050.3_Missense_Mutation_p.Y140H|MTHFD2_ENST00000409804.1_Missense_Mutation_p.Y176H	p.Y304H	NM_006636.3	NP_006627.2	P13995	MTDC_HUMAN			8	990	+			304					Q53G90|Q53GV5|Q53S36|Q7Z650	Missense_Mutation	SNP	ENST00000394053.2	37	c.910T>C	CCDS1935.2	.	.	.	.	.	.	.	.	.	.	T	12.03	1.815611	0.32145	.	.	ENSG00000065911	ENST00000394053;ENST00000409804;ENST00000264090;ENST00000394050;ENST00000409601	T;T;T;T;T	0.57595	0.39;0.39;0.39;0.39;1.88	5.58	5.58	0.84498	Tetrahydrofolate dehydrogenase/cyclohydrolase, NAD(P)-binding domain (1);NAD(P)-binding domain (1);	0.232106	0.45361	D	0.000370	T	0.33731	0.0873	N	0.05510	-0.035	0.51767	D	0.999932	B;B	0.17038	0.02;0.008	B;B	0.24006	0.05;0.029	T	0.16988	-1.0384	10	0.22706	T	0.39	.	14.0158	0.64523	0.0:0.0:0.0:1.0	.	221;304	B8ZZU9;P13995	.;MTDC_HUMAN	H	304;176;202;140;221	ENSP00000377617:Y304H;ENSP00000386536:Y176H;ENSP00000264090:Y202H;ENSP00000377614:Y140H;ENSP00000386542:Y221H	ENSP00000264090:Y202H	Y	+	1	0	MTHFD2	74294734	1.000000	0.71417	0.910000	0.35882	0.304000	0.27724	5.933000	0.70130	2.269000	0.75478	0.533000	0.62120	TAT		0.423	MTHFD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252045.2			46	76	0	0	0	1	0	46	76					C	74441226	T	C	74441226	3	2	435	1	0	0	0	0	1	0	0	0	9929	1638	57	4	940	4	MTHFD2	2	74441226	Missense_Mutation	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	112775	74441226	168758147	1137	22062											
SLC4A5	57835	broad.mit.edu	37	chr2	74454146	74454146	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccagagcaccgccaggcagaGgatctgcaccagggtgaaga	12	3	14	12	1	1	4	0	1	1	3	1	5	1	5	4	3	2	3	4	3	1	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:74454146G>T	ENST00000377634.4	-	28	3475	c.3076C>A	c.(3076-3078)Ctc>Atc	p.L1026I	SLC4A5_ENST00000357822.5_Missense_Mutation_p.L1026I|SLC4A5_ENST00000359484.4_Missense_Mutation_p.L908I|RP11-287D1.3_ENST00000451608.2_3'UTR|SLC4A5_ENST00000377632.1_Intron|SLC4A5_ENST00000346834.4_Intron|SLC4A5_ENST00000358683.4_Missense_Mutation_p.L908I|SLC4A5_ENST00000483195.1_5'UTR|SLC4A5_ENST00000394019.2_Missense_Mutation_p.L1010I|SLC4A5_ENST00000423644.1_Missense_Mutation_p.P950H					solute carrier family 4 (sodium bicarbonate cotransporter), member 5											breast(5)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(13)|ovary(5)|pancreas(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						GCCAGGCAGAGGATCTGCACC	0.642																																						ENST00000394019.2																			0				breast(5)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(13)|ovary(5)|pancreas(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						c.(3028-3030)Ctc>Atc		solute carrier family 4 (sodium bicarbonate cotransporter), member 5							71	72	71					2																	74454146		2203	4300	6503	SO:0001583	missense	57835					apical plasma membrane|integral to membrane	inorganic anion exchanger activity|sodium:bicarbonate symporter activity	g.chr2:74454146G>T	AF243499	CCDS1936.1, CCDS1937.1	2p13.1	2013-07-19	2013-07-19		ENSG00000188687	ENSG00000188687		"Solute carriers"	18168	protein-coding gene	gene with protein product		606757	"solute carrier family 4, sodium bicarbonate cotransporter, member 5"			10978526, 11087115	Standard	NM_133478		Approved	NBC4	uc002sko.1	Q9BY07	OTTHUMG00000090263	ENST00000377634.4:c.3076C>A	2.37:g.74454146G>T	ENSP00000366861:p.Leu1026Ile					RP11-287D1.3_ENST00000451608.2_3'UTR|SLC4A5_ENST00000423644.1_Missense_Mutation_p.P950H|SLC4A5_ENST00000357822.5_Missense_Mutation_p.L1026I|SLC4A5_ENST00000377632.1_Intron|SLC4A5_ENST00000359484.4_Missense_Mutation_p.L908I|SLC4A5_ENST00000358683.4_Missense_Mutation_p.L908I|SLC4A5_ENST00000346834.4_Intron|SLC4A5_ENST00000483195.1_5'UTR|SLC4A5_ENST00000377634.4_Missense_Mutation_p.L1026I	p.L1010I	NM_133478.2	NP_597812.1	Q9BY07	S4A5_HUMAN			27	3425	-			1026						Missense_Mutation	SNP	ENST00000377634.4	37	c.3028C>A	CCDS1936.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.93|16.93	3.258627|3.258627	0.59321|0.59321	.|.	.|.	ENSG00000188687|ENSG00000188687	ENST00000394019;ENST00000451608;ENST00000359484;ENST00000358683;ENST00000357822;ENST00000377634|ENST00000423644;ENST00000425249	T;T;T;T;T|T;T	0.77358|0.71817	-1.06;-1.08;-1.08;-1.09;-1.09|-0.6;-0.33	5.24|5.24	3.38|3.38	0.38709|0.38709	.|.	0.604139|.	0.17618|.	N|.	0.167838|.	T|T	0.63319|0.63319	0.2501|0.2501	L|L	0.50919|0.50919	1.6|1.6	0.21527|0.21527	N|N	0.999657|0.999657	B;B;B|B	0.20164|0.06786	0.008;0.002;0.042|0.001	B;B;B|B	0.24848|0.04013	0.026;0.01;0.056|0.001	T|T	0.57522|0.57522	-0.7797|-0.7797	10|9	0.39692|0.87932	T|D	0.17|0	.|.	8.0412|8.0412	0.30523|0.30523	0.0:0.1575:0.5172:0.3253|0.0:0.1575:0.5172:0.3253	.|.	908;1026;1010|912	Q9BY07-7;Q9BY07;Q9BY07-3|E7EQT3	.;S4A5_HUMAN;.|.	I|H	1010;1026;908;908;1026;1026|950;912	ENSP00000377587:L1010I;ENSP00000352461:L908I;ENSP00000351513:L908I;ENSP00000350475:L1026I;ENSP00000366861:L1026I|ENSP00000395804:P950H;ENSP00000405678:P912H	ENSP00000350475:L1026I|ENSP00000395804:P950H	L|P	-|-	1|2	0|0	SLC4A5|SLC4A5	74307654|74307654	0.008000|0.008000	0.16893|0.16893	0.992000|0.992000	0.48379|0.48379	0.999000|0.999000	0.98932|0.98932	0.080000|0.080000	0.14802|0.14802	0.737000|0.737000	0.32582|0.32582	0.637000|0.637000	0.83480|0.83480	CTC|CCT		0.642	SLC4A5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206583.3			22	38	1	0	1.10923e-09	1	1.18008e-09	22	38					T	74454146	G	T	74454146	3	4	435	1	0	0	0	0	1	0	0	0	14657	1000	35	5	353	5	SLC4A5	2	74454146	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	12920	74454146	168745227	1138	22063											
SLC4A5	57835	broad.mit.edu	37	chr2	74492275	74492275	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtccaaatccagcagcaccGtccccgtctgcaggcaggta	9	7	10	15	2	1	0	0	0	1	0	4	0	4	0	5	2	3	5	5	2	2	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:74492275G>A	ENST00000377634.4	-	9	917	c.518C>T	c.(517-519)aCg>aTg	p.T173M	SLC4A5_ENST00000357822.5_Missense_Mutation_p.T173M|SLC4A5_ENST00000359484.4_Missense_Mutation_p.T109M|RP11-287D1.3_ENST00000451608.2_3'UTR|SLC4A5_ENST00000377632.1_Missense_Mutation_p.T173M|SLC4A5_ENST00000346834.4_Missense_Mutation_p.T173M|SLC4A5_ENST00000358683.4_Missense_Mutation_p.T109M|SLC4A5_ENST00000483195.1_5'UTR|SLC4A5_ENST00000394019.2_Missense_Mutation_p.T173M|SLC4A5_ENST00000423644.1_Missense_Mutation_p.T173M					solute carrier family 4 (sodium bicarbonate cotransporter), member 5											breast(5)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(13)|ovary(5)|pancreas(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						CAGCAGCACCGTCCCCGTCTG	0.607																																						ENST00000394019.2																			0				breast(5)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(13)|ovary(5)|pancreas(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						c.(517-519)aCg>aTg		solute carrier family 4 (sodium bicarbonate cotransporter), member 5							117	107	110					2																	74492275		2203	4300	6503	SO:0001583	missense	57835					apical plasma membrane|integral to membrane	inorganic anion exchanger activity|sodium:bicarbonate symporter activity	g.chr2:74492275G>A	AF243499	CCDS1936.1, CCDS1937.1	2p13.1	2013-07-19	2013-07-19		ENSG00000188687	ENSG00000188687		"Solute carriers"	18168	protein-coding gene	gene with protein product		606757	"solute carrier family 4, sodium bicarbonate cotransporter, member 5"			10978526, 11087115	Standard	NM_133478		Approved	NBC4	uc002sko.1	Q9BY07	OTTHUMG00000090263	ENST00000377634.4:c.518C>T	2.37:g.74492275G>A	ENSP00000366861:p.Thr173Met					RP11-287D1.3_ENST00000451608.2_3'UTR|SLC4A5_ENST00000423644.1_Missense_Mutation_p.T173M|SLC4A5_ENST00000357822.5_Missense_Mutation_p.T173M|SLC4A5_ENST00000377632.1_Missense_Mutation_p.T173M|SLC4A5_ENST00000359484.4_Missense_Mutation_p.T109M|SLC4A5_ENST00000358683.4_Missense_Mutation_p.T109M|SLC4A5_ENST00000346834.4_Missense_Mutation_p.T173M|SLC4A5_ENST00000483195.1_5'UTR|SLC4A5_ENST00000377634.4_Missense_Mutation_p.T173M	p.T173M	NM_133478.2	NP_597812.1	Q9BY07	S4A5_HUMAN			9	915	-			173						Missense_Mutation	SNP	ENST00000377634.4	37	c.518C>T	CCDS1936.1	.	.	.	.	.	.	.	.	.	.	G	19.92	3.916248	0.73098	.	.	ENSG00000188687	ENST00000394019;ENST00000451608;ENST00000346834;ENST00000359484;ENST00000423644;ENST00000358683;ENST00000357822;ENST00000377632;ENST00000377634;ENST00000425249;ENST00000432728	T;T;T;T;T;T;T;T;T;T	0.69175	-0.38;-0.38;-0.38;-0.38;-0.38;-0.38;-0.38;-0.38;-0.38;-0.38	4.79	4.79	0.61399	Bicarbonate transporter, cytoplasmic (2);Phosphotransferase/anion transporter (1);	0.106583	0.64402	D	0.000005	D	0.82426	0.5034	M	0.89601	3.045	0.43007	D	0.994532	D;D;D;D;D	0.71674	0.989;0.995;0.991;0.996;0.998	P;D;P;D;D	0.66196	0.855;0.919;0.832;0.937;0.942	D	0.85448	0.1159	10	0.72032	D	0.01	.	11.3904	0.49811	0.0:0.1829:0.8171:0.0	.	173;173;109;173;173	Q9BY07-4;E7EQT3;Q9BY07-7;Q9BY07;Q9BY07-3	.;.;.;S4A5_HUMAN;.	M	173;173;173;109;173;109;173;173;173;173;57	ENSP00000377587:T173M;ENSP00000251768:T173M;ENSP00000352461:T109M;ENSP00000395804:T173M;ENSP00000351513:T109M;ENSP00000350475:T173M;ENSP00000366859:T173M;ENSP00000366861:T173M;ENSP00000405678:T173M;ENSP00000414162:T57M	ENSP00000251768:T173M	T	-	2	0	SLC4A5	74345783	1.000000	0.71417	0.969000	0.41365	0.992000	0.81027	6.331000	0.72929	2.641000	0.89580	0.591000	0.81541	ACG		0.607	SLC4A5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206583.3			8	38	0	0	0	1	0	8	38					A	74492275	G	A	74492275	3	1	435	1	0	0	0	0	1	0	0	0	14657	1145	40	1	2987	1	SLC4A5	2	74492275	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	38129	74492275	168707098	1139	22064											
SLC4A5	57835	broad.mit.edu	37	chr2	74492358	74492358	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcttgctccagcgttcgccGccttcctctaccttttcttc	2	15	7	17	3	2	0	0	0	2	0	6	0	4	0	5	1	3	3	5	1	1	7			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:74492358G>A	ENST00000377634.4	-	9	834	c.435C>T	c.(433-435)ggC>ggT	p.G145G	SLC4A5_ENST00000357822.5_Silent_p.G145G|SLC4A5_ENST00000359484.4_Silent_p.G81G|RP11-287D1.3_ENST00000451608.2_3'UTR|SLC4A5_ENST00000377632.1_Silent_p.G145G|SLC4A5_ENST00000346834.4_Silent_p.G145G|SLC4A5_ENST00000358683.4_Silent_p.G81G|SLC4A5_ENST00000483195.1_5'UTR|SLC4A5_ENST00000394019.2_Silent_p.G145G|SLC4A5_ENST00000423644.1_Silent_p.G145G					solute carrier family 4 (sodium bicarbonate cotransporter), member 5											breast(5)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(13)|ovary(5)|pancreas(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						AGCGTTCGCCGCCTTCCTCTA	0.612																																						ENST00000394019.2																			0				breast(5)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(13)|ovary(5)|pancreas(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						c.(433-435)ggC>ggT		solute carrier family 4 (sodium bicarbonate cotransporter), member 5							139	133	135					2																	74492358		2203	4300	6503	SO:0001819	synonymous_variant	57835					apical plasma membrane|integral to membrane	inorganic anion exchanger activity|sodium:bicarbonate symporter activity	g.chr2:74492358G>A	AF243499	CCDS1936.1, CCDS1937.1	2p13.1	2013-07-19	2013-07-19		ENSG00000188687	ENSG00000188687		"Solute carriers"	18168	protein-coding gene	gene with protein product		606757	"solute carrier family 4, sodium bicarbonate cotransporter, member 5"			10978526, 11087115	Standard	NM_133478		Approved	NBC4	uc002sko.1	Q9BY07	OTTHUMG00000090263	ENST00000377634.4:c.435C>T	2.37:g.74492358G>A						RP11-287D1.3_ENST00000451608.2_3'UTR|SLC4A5_ENST00000423644.1_Silent_p.G145G|SLC4A5_ENST00000357822.5_Silent_p.G145G|SLC4A5_ENST00000377632.1_Silent_p.G145G|SLC4A5_ENST00000359484.4_Silent_p.G81G|SLC4A5_ENST00000358683.4_Silent_p.G81G|SLC4A5_ENST00000346834.4_Silent_p.G145G|SLC4A5_ENST00000483195.1_5'UTR|SLC4A5_ENST00000377634.4_Silent_p.G145G	p.G145G	NM_133478.2	NP_597812.1	Q9BY07	S4A5_HUMAN			9	832	-			145						Silent	SNP	ENST00000377634.4	37	c.435C>T	CCDS1936.1																																																																																				0.612	SLC4A5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206583.3			15	53	0	0	0	1	0	15	53					A	74492358	G	A	74492358	2	1	435	1	0	0	0	0	0	0	0	1	14657	1074	38	1		1	SLC4A5	2	74492358	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	83	74492358	168707015	1140	22065											
DCTN1	1639	broad.mit.edu	37	chr2	74593948	74593948	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgcagctgggatcccaggagCatctgtccctggcattcgcc	6	9	12	14	1	1	0	0	0	1	0	4	2	3	2	3	3	3	4	3	3	0	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:74593948C>T	ENST00000361874.3	-	21	2745	c.2428G>A	c.(2428-2430)Gct>Act	p.A810T	DCTN1_ENST00000409567.3_Missense_Mutation_p.A790T|DCTN1_ENST00000409868.1_Missense_Mutation_p.A793T|DCTN1_ENST00000409240.1_Missense_Mutation_p.A773T|DCTN1_ENST00000407639.2_Missense_Mutation_p.A676T|DCTN1_ENST00000409438.1_Missense_Mutation_p.A676T|DCTN1_ENST00000394003.3_Missense_Mutation_p.A803T|DCTN1_ENST00000495643.1_5'UTR	NM_004082.4	NP_004073.2	Q14203	DCTN1_HUMAN	dynactin 1	810					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|G2/M transition of mitotic cell cycle (GO:0000086)|melanosome transport (GO:0032402)|microtubule-based transport (GO:0010970)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|nervous system development (GO:0007399)	cell leading edge (GO:0031252)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dynactin complex (GO:0005869)|dynein complex (GO:0030286)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|spindle pole (GO:0000922)	motor activity (GO:0003774)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(1)|skin(3)	45						ATCCCAGGAGCATCTGTCCCT	0.532																																						ENST00000361874.3																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(1)|skin(3)	45						c.(2428-2430)Gct>Act		dynactin 1							82	80	81					2																	74593948		2203	4300	6503	SO:0001583	missense	1639				cell death|G2/M transition of mitotic cell cycle|mitosis|nervous system development	centrosome|cytosol|kinetochore|microtubule|spindle pole	motor activity|protein binding	g.chr2:74593948C>T		CCDS1939.1, CCDS46341.1, CCDS46342.1, CCDS54368.1, CCDS54369.1	2p13	2014-09-17	2010-06-24		ENSG00000204843	ENSG00000204843			2711	protein-coding gene	gene with protein product	"p150 glued homolog (Drosophila)"	601143	"dynactin 1 (p150, Glued (Drosophila) homolog)"			1828535	Standard	NM_001190836		Approved		uc002skx.3	Q14203	OTTHUMG00000129963	ENST00000361874.3:c.2428G>A	2.37:g.74593948C>T	ENSP00000354791:p.Ala810Thr					DCTN1_ENST00000394003.3_Missense_Mutation_p.A803T|DCTN1_ENST00000407639.2_Missense_Mutation_p.A676T|DCTN1_ENST00000409567.3_Missense_Mutation_p.A790T|DCTN1_ENST00000409438.1_Missense_Mutation_p.A676T|DCTN1_ENST00000495643.1_5'UTR|DCTN1_ENST00000409240.1_Missense_Mutation_p.A773T|DCTN1_ENST00000409868.1_Missense_Mutation_p.A793T	p.A810T	NM_004082.4	NP_004073.2	Q14203	DCTN1_HUMAN			21	2745	-			810					A8MY36|B4DM45|E9PFS5|E9PGE1|G5E9H4|O95296|Q6IQ37|Q9BRM9|Q9UIU1|Q9UIU2	Missense_Mutation	SNP	ENST00000361874.3	37	c.2428G>A	CCDS1939.1	.	.	.	.	.	.	.	.	.	.	C	27.1	4.796756	0.90453	.	.	ENSG00000204843	ENST00000361874;ENST00000394003;ENST00000393999;ENST00000407639;ENST00000409438;ENST00000409240;ENST00000409868;ENST00000409567	T;T;T;T;T;T;T	0.77750	-0.69;-0.88;-0.68;-0.68;-1.12;-0.88;-0.9	5.32	5.32	0.75619	.	0.000000	0.43110	D	0.000620	D	0.84763	0.5544	L	0.46157	1.445	0.80722	D	1	P;P;D;B;P;D	0.67145	0.704;0.488;0.993;0.098;0.9;0.996	B;B;D;B;P;D	0.77557	0.115;0.108;0.977;0.122;0.487;0.99	D	0.84339	0.0526	10	0.49607	T	0.09	-5.4847	17.9185	0.88959	0.0:1.0:0.0:0.0	.	790;773;810;803;676;676	E9PGE1;E9PFS5;Q14203;A8MY36;Q14203-2;G5E9H4	.;.;DCTN1_HUMAN;.;.;.	T	810;803;793;676;676;773;793;790	ENSP00000354791:A810T;ENSP00000377571:A803T;ENSP00000384844:A676T;ENSP00000387270:A676T;ENSP00000386406:A773T;ENSP00000387327:A793T;ENSP00000386843:A790T	ENSP00000354791:A810T	A	-	1	0	DCTN1	74447456	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.117000	0.77129	2.769000	0.95229	0.563000	0.77884	GCT		0.532	DCTN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252227.3	NM_004082		11	62	0	0	0	1	0	11	62					T	74593948	C	T	74593948	3	4	435	1	0	0	0	0	1	0	0	0	4306	710	25	3	1456	3	DCTN1	2	74593948	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	101590	74593948	168605425	1141	22066											
DCTN1	1639	broad.mit.edu	37	chr2	74605347	74605347	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaggccgggcgcttgcctccGcactcatcctgctgccgctg	3	8	13	17	4	1	0	1	0	0	0	3	1	3	0	5	2	3	4	5	2	0	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:74605347G>A	ENST00000361874.3	-	2	376	c.59C>T	c.(58-60)gCg>gTg	p.A20V	DCTN1_ENST00000409567.3_Missense_Mutation_p.A20V|DCTN1_ENST00000409868.1_Missense_Mutation_p.A3V|DCTN1_ENST00000409240.1_Missense_Mutation_p.A3V|DCTN1_ENST00000394003.3_Missense_Mutation_p.A20V	NM_004082.4	NP_004073.2	Q14203	DCTN1_HUMAN	dynactin 1	20					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|G2/M transition of mitotic cell cycle (GO:0000086)|melanosome transport (GO:0032402)|microtubule-based transport (GO:0010970)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|nervous system development (GO:0007399)	cell leading edge (GO:0031252)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dynactin complex (GO:0005869)|dynein complex (GO:0030286)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|spindle pole (GO:0000922)	motor activity (GO:0003774)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(1)|skin(3)	45						GCTTGCCTCCGCACTCATCCT	0.562																																						ENST00000361874.3																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(1)|skin(3)	45						c.(58-60)gCg>gTg		dynactin 1							44	47	46					2																	74605347		2203	4300	6503	SO:0001583	missense	1639				cell death|G2/M transition of mitotic cell cycle|mitosis|nervous system development	centrosome|cytosol|kinetochore|microtubule|spindle pole	motor activity|protein binding	g.chr2:74605347G>A		CCDS1939.1, CCDS46341.1, CCDS46342.1, CCDS54368.1, CCDS54369.1	2p13	2014-09-17	2010-06-24		ENSG00000204843	ENSG00000204843			2711	protein-coding gene	gene with protein product	"p150 glued homolog (Drosophila)"	601143	"dynactin 1 (p150, Glued (Drosophila) homolog)"			1828535	Standard	NM_001190836		Approved		uc002skx.3	Q14203	OTTHUMG00000129963	ENST00000361874.3:c.59C>T	2.37:g.74605347G>A	ENSP00000354791:p.Ala20Val					DCTN1_ENST00000394003.3_Missense_Mutation_p.A20V|DCTN1_ENST00000409567.3_Missense_Mutation_p.A20V|DCTN1_ENST00000409240.1_Missense_Mutation_p.A3V|DCTN1_ENST00000409868.1_Missense_Mutation_p.A3V	p.A20V	NM_004082.4	NP_004073.2	Q14203	DCTN1_HUMAN			2	376	-			20					A8MY36|B4DM45|E9PFS5|E9PGE1|G5E9H4|O95296|Q6IQ37|Q9BRM9|Q9UIU1|Q9UIU2	Missense_Mutation	SNP	ENST00000361874.3	37	c.59C>T	CCDS1939.1	.	.	.	.	.	.	.	.	.	.	G	13.44	2.236616	0.39498	.	.	ENSG00000204843	ENST00000361874;ENST00000394003;ENST00000393999;ENST00000409240;ENST00000409868;ENST00000409567;ENST00000458655;ENST00000454119;ENST00000417090;ENST00000437375;ENST00000413111;ENST00000421392;ENST00000440727;ENST00000449655	T;T;T;T;T;T;T;T;T;T;T;T	0.74106	-0.81;-0.81;-0.81;-0.81;-0.81;-0.81;-0.81;-0.81;-0.81;-0.81;-0.81;-0.81	4.99	4.99	0.66335	Cytoskeleton-associated protein, Gly-rich domain (2);	0.749194	0.11379	N	0.569988	T	0.50343	0.1610	N	0.03608	-0.345	0.80722	D	1	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.04013	0.0;0.001;0.0;0.0	T	0.47995	-0.9073	10	0.30078	T	0.28	-0.716	7.7716	0.29012	0.1813:0.0:0.8187:0.0	.	20;3;20;20	E9PGE1;E9PFS5;Q14203;A8MY36	.;.;DCTN1_HUMAN;.	V	20;20;3;3;3;20;27;3;24;3;3;3;3;3	ENSP00000354791:A20V;ENSP00000377571:A20V;ENSP00000386406:A3V;ENSP00000387327:A3V;ENSP00000386843:A20V;ENSP00000414315:A27V;ENSP00000404038:A3V;ENSP00000402509:A24V;ENSP00000395312:A3V;ENSP00000413268:A3V;ENSP00000409363:A3V;ENSP00000400059:A3V	ENSP00000354791:A20V	A	-	2	0	DCTN1	74458855	0.965000	0.33210	0.319000	0.25293	0.906000	0.53458	3.700000	0.54786	2.299000	0.77371	0.455000	0.32223	GCG		0.562	DCTN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252227.3	NM_004082		14	26	0	0	0	1	0	14	26					A	74605347	G	A	74605347	3	1	435	1	0	0	0	0	1	0	0	0	4306	1087	38	1	3913	1	DCTN1	2	74605347	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	11399	74605347	168594026	1142	22067											
RTKN	84058	broad.mit.edu	37	chr2	74653420	74653420	+	IGR	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttggcctttgctgcagaggcCtctggtccgtggggatcgct	3	12	15	11	2	1	1	0	0	1	1	3	2	2	2	3	5	2	3	3	5	0	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:74653420C>A	ENST00000348227.4	+	0	1147				RTKN_ENST00000233330.6_Missense_Mutation_p.G498C|RTKN_ENST00000272430.5_Missense_Mutation_p.G548C|RTKN_ENST00000305557.5_Missense_Mutation_p.G535C	NM_032118.2	NP_115494.1	Q9H977	WDR54_HUMAN	WD repeat domain 54											breast(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(1)	9						CTGCAGAGGCCTCTGGTCCGT	0.612																																						ENST00000305557.5																			0				endometrium(3)|large_intestine(5)|lung(5)|skin(2)|upper_aerodigestive_tract(1)	16						c.(1603-1605)Ggc>Tgc		rhotekin							90	101	97					2																	74653420		2203	4300	6503	SO:0001628	intergenic_variant	6242				apoptosis|regulation of anti-apoptosis|Rho protein signal transduction	intracellular	GTP binding|GTP-Rho binding|GTPase inhibitor activity	g.chr2:74653420C>A	AK023015	CCDS1940.1	2p13.1	2013-01-09			ENSG00000005448	ENSG00000005448		"WD repeat domain containing"	25770	protein-coding gene	gene with protein product						12477932	Standard	NM_032118		Approved	FLJ12953	uc002slb.3	Q9H977	OTTHUMG00000129951		2.37:g.74653420C>A						RTKN_ENST00000272430.5_Missense_Mutation_p.G548C|RTKN_ENST00000233330.6_Missense_Mutation_p.G498C	p.G535C	NM_033046.2	NP_149035.1	Q9BST9	RTKN_HUMAN			13	2188	-			548			Pro-rich.		D6W5I3|Q53H85|Q86V45	Missense_Mutation	SNP	ENST00000348227.4	37	c.1603G>T	CCDS1940.1	.	.	.	.	.	.	.	.	.	.	C	15.47	2.841808	0.51057	.	.	ENSG00000114993	ENST00000305557;ENST00000272430;ENST00000233330	T;T;T	0.32753	1.45;1.44;1.45	5.3	3.52	0.40303	.	0.227277	0.44688	D	0.000436	T	0.29684	0.0741	L	0.27053	0.805	0.31045	N	0.71583	P;D	0.60575	0.938;0.988	B;P	0.53593	0.417;0.73	T	0.20974	-1.0259	10	0.56958	D	0.05	.	7.974	0.30145	0.0:0.8182:0.0:0.1818	.	548;535	Q9BST9;Q9BST9-2	RTKN_HUMAN;.	C	535;548;498	ENSP00000305298:G535C;ENSP00000272430:G548C;ENSP00000233330:G498C	ENSP00000233330:G498C	G	-	1	0	RTKN	74506928	0.993000	0.37304	0.991000	0.47740	0.705000	0.40729	1.720000	0.38022	0.826000	0.34661	-0.140000	0.14226	GGC		0.612	WDR54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252213.1	NM_032118		4	96	1	0	0.00024832	1	0.000253518	4	96					A	74653420	C	A	74653420	1	1	435	0	1	0	0	0	0	0	0	0	13722	681	24	5		5	RTKN	2	74653420	IGR	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	48073	74653420	168545953	1143	22068											
RTKN	84058	broad.mit.edu	37	chr2	74653438	74653438	+	IGR	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcctctggtccgtggggatcGctgaggtgggaggggggcaa	5	7	21	8	2	1	1	0	1	1	0	3	3	2	3	2	8	0	2	2	8	1	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:74653438G>A	ENST00000348227.4	+	0	1147				RTKN_ENST00000233330.6_Nonsense_Mutation_p.R492*|RTKN_ENST00000272430.5_Nonsense_Mutation_p.R542*|RTKN_ENST00000305557.5_Nonsense_Mutation_p.R529*	NM_032118.2	NP_115494.1	Q9H977	WDR54_HUMAN	WD repeat domain 54											breast(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(1)	9						CGTGGGGATCGCTGAGGTGGG	0.652																																						ENST00000305557.5																			0				endometrium(3)|large_intestine(5)|lung(5)|skin(2)|upper_aerodigestive_tract(1)	16						c.(1585-1587)Cga>Tga		rhotekin							71	83	79					2																	74653438		2201	4299	6500	SO:0001628	intergenic_variant	6242				apoptosis|regulation of anti-apoptosis|Rho protein signal transduction	intracellular	GTP binding|GTP-Rho binding|GTPase inhibitor activity	g.chr2:74653438G>A	AK023015	CCDS1940.1	2p13.1	2013-01-09			ENSG00000005448	ENSG00000005448		"WD repeat domain containing"	25770	protein-coding gene	gene with protein product						12477932	Standard	NM_032118		Approved	FLJ12953	uc002slb.3	Q9H977	OTTHUMG00000129951		2.37:g.74653438G>A						RTKN_ENST00000272430.5_Nonsense_Mutation_p.R542*|RTKN_ENST00000233330.6_Nonsense_Mutation_p.R492*	p.R529*	NM_033046.2	NP_149035.1	Q9BST9	RTKN_HUMAN			13	2170	-			542			Pro-rich.		D6W5I3|Q53H85|Q86V45	Nonsense_Mutation	SNP	ENST00000348227.4	37	c.1585C>T	CCDS1940.1	.	.	.	.	.	.	.	.	.	.	G	39	7.615894	0.98390	.	.	ENSG00000114993	ENST00000305557;ENST00000272430;ENST00000233330	.	.	.	5.3	3.44	0.39384	.	0.611433	0.16025	N	0.233108	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.12103	T	0.63	.	10.6997	0.45920	0.0:0.0:0.6556:0.3444	.	.	.	.	X	529;542;492	.	ENSP00000233330:R492X	R	-	1	2	RTKN	74506946	0.661000	0.27430	0.805000	0.32314	0.523000	0.34469	1.782000	0.38654	0.746000	0.32786	0.655000	0.94253	CGA		0.652	WDR54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252213.1	NM_032118		31	55	0	0	0	1	0	31	55					A	74653438	G	A	74653438	1	1	435	0	1	0	0	0	0	0	0	0	13722	1095	38	1		1	RTKN	2	74653438	IGR	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	18	74653438	168545935	1144	22069											
MOGS	7841	broad.mit.edu	37	chr2	74688821	74688821	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggtggggtccagcagtcgcaGcagcaagggaaaaagactga	13	4	16	8	1	0	2	0	1	0	1	2	3	1	3	1	4	3	4	1	4	3	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:74688821G>A	ENST00000233616.4	-	4	2257	c.2095C>T	c.(2095-2097)Ctg>Ttg	p.L699L	MOGS_ENST00000452063.2_Silent_p.L593L|MOGS_ENST00000462443.1_5'Flank|MOGS_ENST00000409065.1_3'UTR	NM_006302.2	NP_006293.2	Q13724	MOGS_HUMAN	mannosyl-oligosaccharide glucosidase	699					cellular protein metabolic process (GO:0044267)|oligosaccharide metabolic process (GO:0009311)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	glucosidase activity (GO:0015926)|mannosyl-oligosaccharide glucosidase activity (GO:0004573)			cervix(1)|endometrium(6)|large_intestine(3)|lung(10)|prostate(1)|urinary_tract(2)	23						AGCAGTCGCAGCAGCAAGGGA	0.622																																						ENST00000233616.4																			0				cervix(1)|endometrium(6)|large_intestine(3)|lung(10)|prostate(1)|urinary_tract(2)	23						c.(2095-2097)Ctg>Ttg		mannosyl-oligosaccharide glucosidase							67	81	76					2																	74688821		2024	4189	6213	SO:0001819	synonymous_variant	7841				oligosaccharide metabolic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane|membrane fraction	mannosyl-oligosaccharide glucosidase activity	g.chr2:74688821G>A	X87237	CCDS42700.1, CCDS54370.1	2p13.1	2012-01-31			ENSG00000115275	ENSG00000115275	3.2.1.106		24862	protein-coding gene	gene with protein product	"glucosidase I", "processing A-glucosidase I"	601336				7635146, 8786151	Standard	NM_006302		Approved	GCS1, CWH41, DER7	uc010ffj.3	Q13724	OTTHUMG00000152886	ENST00000233616.4:c.2095C>T	2.37:g.74688821G>A						MOGS_ENST00000452063.2_Silent_p.L593L|MOGS_ENST00000409065.1_3'UTR	p.L699L	NM_006302.2	NP_006293.2	Q13724	MOGS_HUMAN			4	2257	-			699					A8K938|F5H6D0|Q17RN9|Q8TCT5	Silent	SNP	ENST00000233616.4	37	c.2095C>T	CCDS42700.1																																																																																				0.622	MOGS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328382.1	NM_006302		18	20	0	0	0	1	0	18	20					A	74688821	G	A	74688821	2	1	435	1	0	0	0	0	0	0	0	1	9697	962	34	3		3	MOGS	2	74688821	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	35383	74688821	168510552	1145	22070											
TLX2	3196	broad.mit.edu	37	chr2	74742790	74742790	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcccttctctgggacgcgccGcataggccacccctaccaaa	8	6	9	18	3	1	0	0	0	1	0	2	1	1	1	6	2	1	1	6	2	3	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:74742790G>A	ENST00000233638.7	+	2	754	c.431G>A	c.(430-432)cGc>cAc	p.R144H		NM_016170.4	NP_057254.1	O43763	TLX2_HUMAN	T-cell leukemia homeobox 2	144					enteric nervous system development (GO:0048484)|mesoderm formation (GO:0001707)|negative regulation of dendrite morphogenesis (GO:0050774)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			kidney(1)|ovary(1)	2						GGGACGCGCCGCATAGGCCAC	0.667																																					Esophageal Squamous(7;240 533 18610 24312)	ENST00000233638.7																			0				kidney(1)|ovary(1)	2						c.(430-432)cGc>cAc		T-cell leukemia homeobox 2							57	64	62					2																	74742790		2203	4300	6503	SO:0001583	missense	3196					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:74742790G>A	AJ002607	CCDS1947.1	2p13.1	2011-06-20	2005-12-22	2002-05-31	ENSG00000115297	ENSG00000115297		"Homeoboxes / ANTP class : NKL subclass"	5057	protein-coding gene	gene with protein product		604240	"homeo box 11-like 1", "T-cell leukemia, homeobox 2"	HOX11L1		10343123	Standard	NM_016170		Approved	Enx, Tlx2, NCX	uc002sma.2	O43763	OTTHUMG00000129960	ENST00000233638.7:c.431G>A	2.37:g.74742790G>A	ENSP00000233638:p.Arg144His						p.R144H	NM_016170.4	NP_057254.1	O43763	TLX2_HUMAN			2	754	+			144					Q9UD56|Q9UQ48	Missense_Mutation	SNP	ENST00000233638.7	37	c.431G>A	CCDS1947.1	.	.	.	.	.	.	.	.	.	.	G	32	5.158878	0.94686	.	.	ENSG00000115297	ENST00000233638	D	0.95690	-3.78	4.29	4.29	0.51040	Homeodomain-like (1);	0.000000	0.52532	D	0.000078	D	0.97204	0.9086	M	0.79805	2.47	0.50813	D	0.99989	D	0.89917	1.0	D	0.83275	0.996	D	0.96193	0.9139	10	0.22706	T	0.39	.	14.3143	0.66437	0.0:0.0:1.0:0.0	.	144	O43763	TLX2_HUMAN	H	144	ENSP00000233638:R144H	ENSP00000233638:R144H	R	+	2	0	TLX2	74596298	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.703000	0.84585	2.216000	0.71823	0.655000	0.94253	CGC		0.667	TLX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252224.3			8	58	0	0	0	1	0	8	58					A	74742790	G	A	74742790	3	1	435	1	0	0	0	0	1	0	0	0	15958	1087	38	1	437	1	TLX2	2	74742790	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	53969	74742790	168456583	1146	22071											
TLX2	3196	broad.mit.edu	37	chr2	74742863	74742863	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acgtccttctcccgctcacaGgtgctggagttggagcggcg	5	9	14	13	4	2	0	1	0	1	0	4	2	3	2	2	4	2	3	2	4	0	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:74742863G>A	ENST00000233638.7	+	2	827	c.504G>A	c.(502-504)caG>caA	p.Q168Q		NM_016170.4	NP_057254.1	O43763	TLX2_HUMAN	T-cell leukemia homeobox 2	168					enteric nervous system development (GO:0048484)|mesoderm formation (GO:0001707)|negative regulation of dendrite morphogenesis (GO:0050774)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			kidney(1)|ovary(1)	2						CCCGCTCACAGGTGCTGGAGT	0.677																																					Esophageal Squamous(7;240 533 18610 24312)	ENST00000233638.7																			0				kidney(1)|ovary(1)	2						c.(502-504)caG>caA		T-cell leukemia homeobox 2							28	32	31					2																	74742863		2203	4300	6503	SO:0001819	synonymous_variant	3196					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:74742863G>A	AJ002607	CCDS1947.1	2p13.1	2011-06-20	2005-12-22	2002-05-31	ENSG00000115297	ENSG00000115297		"Homeoboxes / ANTP class : NKL subclass"	5057	protein-coding gene	gene with protein product		604240	"homeo box 11-like 1", "T-cell leukemia, homeobox 2"	HOX11L1		10343123	Standard	NM_016170		Approved	Enx, Tlx2, NCX	uc002sma.2	O43763	OTTHUMG00000129960	ENST00000233638.7:c.504G>A	2.37:g.74742863G>A							p.Q168Q	NM_016170.4	NP_057254.1	O43763	TLX2_HUMAN			2	827	+			168					Q9UD56|Q9UQ48	Silent	SNP	ENST00000233638.7	37	c.504G>A	CCDS1947.1																																																																																				0.677	TLX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252224.3			12	19	0	0	0	1	0	12	19					A	74742863	G	A	74742863	2	1	435	1	0	0	0	0	0	0	0	1	15958	991	35	3		3	TLX2	2	74742863	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	73	74742863	168456510	1147	22072											
HK2	3099	broad.mit.edu	37	chr2	75107402	75107402	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggaactgcagttttgccaagCgtctacataagaccgtgcgg	10	9	12	10	3	1	1	0	0	1	1	1	2	1	2	2	2	6	2	2	2	4	4	rs376768203		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:75107402C>T	ENST00000290573.2	+	10	1876	c.1276C>T	c.(1276-1278)Cgt>Tgt	p.R426C	HK2_ENST00000409174.1_Missense_Mutation_p.R398C	NM_000189.4	NP_000180.2	P52789	HXK2_HUMAN	hexokinase 2	426	Hexokinase type-2 1.|Regulatory.				apoptotic mitochondrial changes (GO:0008637)|carbohydrate metabolic process (GO:0005975)|cellular glucose homeostasis (GO:0001678)|glucose 6-phosphate metabolic process (GO:0051156)|glucose metabolic process (GO:0006006)|glucose transport (GO:0015758)|glycolytic process (GO:0006096)|hexose transport (GO:0008645)|lactation (GO:0007595)|regulation of glucose import (GO:0046324)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)	ATP binding (GO:0005524)|fructokinase activity (GO:0008865)|glucokinase activity (GO:0004340)|glucose binding (GO:0005536)|hexokinase activity (GO:0004396)|mannokinase activity (GO:0019158)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	43						TTTTGCCAAGCGTCTACATAA	0.582																																						ENST00000290573.2																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	43						c.(1276-1278)Cgt>Tgt		hexokinase 2		C	CYS/ARG	0,4404		0,0,2202	189	211	204		1276	1.1	1	2		204	1,8597		0,1,4298	no	missense	HK2	NM_000189.4	180	0,1,6500	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	426/918	75107402	1,13001	2202	4299	6501	SO:0001583	missense	3099				apoptotic mitochondrial changes|glucose transport|glycolysis|transmembrane transport	cytosol|mitochondrial outer membrane	ATP binding|glucokinase activity	g.chr2:75107402C>T		CCDS1956.1	2p13	2010-03-19			ENSG00000159399	ENSG00000159399	2.7.1.1		4923	protein-coding gene	gene with protein product		601125					Standard	NM_000189		Approved		uc002snd.3	P52789	OTTHUMG00000129972	ENST00000290573.2:c.1276C>T	2.37:g.75107402C>T	ENSP00000290573:p.Arg426Cys					HK2_ENST00000409174.1_Missense_Mutation_p.R398C	p.R426C	NM_000189.4	NP_000180.2	P52789	HXK2_HUMAN			10	1876	+			426			Regulatory.		D6W5J2|Q8WU87|Q9UN82	Missense_Mutation	SNP	ENST00000290573.2	37	c.1276C>T	CCDS1956.1	.	.	.	.	.	.	.	.	.	.	C	8.066	0.769250	0.15983	0.0	1.16E-4	ENSG00000159399	ENST00000290573;ENST00000535740;ENST00000409174	T;T	0.12569	2.67;2.67	4.89	1.09	0.20402	Hexokinase, C-terminal (1);	0.182827	0.56097	N	0.000021	T	0.28034	0.0691	M	0.65320	2	0.80722	D	1	D	0.76494	0.999	D	0.64687	0.928	T	0.00664	-1.1620	10	0.37606	T	0.19	-0.0523	11.9681	0.53047	0.0:0.7989:0.0:0.2011	.	426	P52789	HXK2_HUMAN	C	426;426;398	ENSP00000290573:R426C;ENSP00000387140:R398C	ENSP00000290573:R426C	R	+	1	0	HK2	74960910	0.925000	0.31364	0.994000	0.49952	0.059000	0.15707	1.944000	0.40263	0.087000	0.17167	-1.155000	0.01812	CGT		0.582	HK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252238.2	NM_000189		76	141	0	0	0	1	0	76	141					T	75107402	C	T	75107402	3	4	435	1	0	0	0	0	1	0	0	0	7191	768	27	1	1314	1	HK2	2	75107402	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	364539	75107402	168091971	1148	22073											
HK2	3099	broad.mit.edu	37	chr2	75107502	75107502	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcagccatggtgacagcagTggcttaccggctggccgatc	7	8	14	12	2	0	1	0	1	0	0	1	2	0	1	3	4	4	4	3	4	1	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:75107502T>C	ENST00000290573.2	+	10	1976	c.1376T>C	c.(1375-1377)gTg>gCg	p.V459A	HK2_ENST00000409174.1_Missense_Mutation_p.V431A	NM_000189.4	NP_000180.2	P52789	HXK2_HUMAN	hexokinase 2	459	Hexokinase type-2 1.|Regulatory.				apoptotic mitochondrial changes (GO:0008637)|carbohydrate metabolic process (GO:0005975)|cellular glucose homeostasis (GO:0001678)|glucose 6-phosphate metabolic process (GO:0051156)|glucose metabolic process (GO:0006006)|glucose transport (GO:0015758)|glycolytic process (GO:0006096)|hexose transport (GO:0008645)|lactation (GO:0007595)|regulation of glucose import (GO:0046324)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)	ATP binding (GO:0005524)|fructokinase activity (GO:0008865)|glucokinase activity (GO:0004340)|glucose binding (GO:0005536)|hexokinase activity (GO:0004396)|mannokinase activity (GO:0019158)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	43						GTGACAGCAGTGGCTTACCGG	0.617																																						ENST00000290573.2																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	43						c.(1375-1377)gTg>gCg		hexokinase 2							68	74	72					2																	75107502		2203	4297	6500	SO:0001583	missense	3099				apoptotic mitochondrial changes|glucose transport|glycolysis|transmembrane transport	cytosol|mitochondrial outer membrane	ATP binding|glucokinase activity	g.chr2:75107502T>C		CCDS1956.1	2p13	2010-03-19			ENSG00000159399	ENSG00000159399	2.7.1.1		4923	protein-coding gene	gene with protein product		601125					Standard	NM_000189		Approved		uc002snd.3	P52789	OTTHUMG00000129972	ENST00000290573.2:c.1376T>C	2.37:g.75107502T>C	ENSP00000290573:p.Val459Ala					HK2_ENST00000409174.1_Missense_Mutation_p.V431A	p.V459A	NM_000189.4	NP_000180.2	P52789	HXK2_HUMAN			10	1976	+			459			Regulatory.		D6W5J2|Q8WU87|Q9UN82	Missense_Mutation	SNP	ENST00000290573.2	37	c.1376T>C	CCDS1956.1	.	.	.	.	.	.	.	.	.	.	T	26.3	4.725759	0.89298	.	.	ENSG00000159399	ENST00000290573;ENST00000535740;ENST00000409174	D;D	0.97256	-4.31;-4.31	4.87	4.87	0.63330	Hexokinase, C-terminal (1);	0.050892	0.85682	D	0.000000	D	0.98018	0.9347	M	0.74389	2.26	0.80722	D	1	D	0.69078	0.997	D	0.83275	0.996	D	0.98501	1.0614	10	0.66056	D	0.02	-30.2399	12.7383	0.57238	0.0:0.0:0.0:1.0	.	459	P52789	HXK2_HUMAN	A	459;459;431	ENSP00000290573:V459A;ENSP00000387140:V431A	ENSP00000290573:V459A	V	+	2	0	HK2	74961010	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	5.997000	0.70646	2.178000	0.69098	0.533000	0.62120	GTG		0.617	HK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252238.2	NM_000189		11	51	0	0	0	1	0	11	51					C	75107502	T	C	75107502	3	2	435	1	0	0	0	0	1	0	0	0	7191	1696	59	4	1414	4	HK2	2	75107502	Missense_Mutation	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	100	75107502	168091871	1149	22074											
HK2	3099	broad.mit.edu	37	chr2	75115100	75115100	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttctcatcgatttcaccaagCgtggactactcttccgaggc	8	12	8	13	3	3	0	2	0	2	0	6	3	4	1	2	2	2	0	2	2	2	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:75115100C>T	ENST00000290573.2	+	16	2890	c.2290C>T	c.(2290-2292)Cgt>Tgt	p.R764C	HK2_ENST00000409174.1_Missense_Mutation_p.R736C	NM_000189.4	NP_000180.2	P52789	HXK2_HUMAN	hexokinase 2	764	Catalytic.|Hexokinase type-2 2.				apoptotic mitochondrial changes (GO:0008637)|carbohydrate metabolic process (GO:0005975)|cellular glucose homeostasis (GO:0001678)|glucose 6-phosphate metabolic process (GO:0051156)|glucose metabolic process (GO:0006006)|glucose transport (GO:0015758)|glycolytic process (GO:0006096)|hexose transport (GO:0008645)|lactation (GO:0007595)|regulation of glucose import (GO:0046324)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)	ATP binding (GO:0005524)|fructokinase activity (GO:0008865)|glucokinase activity (GO:0004340)|glucose binding (GO:0005536)|hexokinase activity (GO:0004396)|mannokinase activity (GO:0019158)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	43						TTTCACCAAGCGTGGACTACT	0.478																																						ENST00000290573.2																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	43						c.(2290-2292)Cgt>Tgt		hexokinase 2							161	140	147					2																	75115100		2203	4300	6503	SO:0001583	missense	3099				apoptotic mitochondrial changes|glucose transport|glycolysis|transmembrane transport	cytosol|mitochondrial outer membrane	ATP binding|glucokinase activity	g.chr2:75115100C>T		CCDS1956.1	2p13	2010-03-19			ENSG00000159399	ENSG00000159399	2.7.1.1		4923	protein-coding gene	gene with protein product		601125					Standard	NM_000189		Approved		uc002snd.3	P52789	OTTHUMG00000129972	ENST00000290573.2:c.2290C>T	2.37:g.75115100C>T	ENSP00000290573:p.Arg764Cys					HK2_ENST00000409174.1_Missense_Mutation_p.R736C	p.R764C	NM_000189.4	NP_000180.2	P52789	HXK2_HUMAN			16	2890	+			764			Catalytic.		D6W5J2|Q8WU87|Q9UN82	Missense_Mutation	SNP	ENST00000290573.2	37	c.2290C>T	CCDS1956.1	.	.	.	.	.	.	.	.	.	.	C	19.70	3.876441	0.72180	.	.	ENSG00000159399	ENST00000290573;ENST00000535740;ENST00000409174	D;D	0.96427	-4.01;-4.01	4.72	4.72	0.59763	Hexokinase, C-terminal (1);	0.092749	0.64402	D	0.000001	D	0.96978	0.9013	L	0.53671	1.685	0.80722	D	1	D	0.76494	0.999	D	0.63597	0.916	D	0.96873	0.9641	10	0.54805	T	0.06	-7.9874	15.5668	0.76300	0.0:1.0:0.0:0.0	.	764	P52789	HXK2_HUMAN	C	764;764;736	ENSP00000290573:R764C;ENSP00000387140:R736C	ENSP00000290573:R764C	R	+	1	0	HK2	74968608	0.984000	0.35163	1.000000	0.80357	0.996000	0.88848	1.050000	0.30404	2.623000	0.88846	0.555000	0.69702	CGT		0.478	HK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252238.2	NM_000189		21	42	0	0	0	1	0	21	42					T	75115100	C	T	75115100	3	4	435	1	0	0	0	0	1	0	0	0	7191	768	27	1	2352	1	HK2	2	75115100	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	7598	75115100	168084273	1150	22075											
TACR1	6869	broad.mit.edu	37	chr2	75425955	75425955	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	aatgaccgtgtaggcagctgCccaaaggacaatttgccagg	12	7	12	10	1	0	1	0	1	0	0	0	2	0	2	3	3	3	3	3	3	4	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:75425955C>T	ENST00000305249.5	-	1	871	c.106G>A	c.(106-108)Gca>Aca	p.A36T	TACR1_ENST00000409848.3_Missense_Mutation_p.A36T	NM_001058.3	NP_001049.1	P25103	NK1R_HUMAN	tachykinin receptor 1	36					acute inflammatory response (GO:0002526)|aggressive behavior (GO:0002118)|angiotensin-mediated drinking behavior (GO:0003051)|associative learning (GO:0008306)|behavioral response to pain (GO:0048266)|detection of abiotic stimulus (GO:0009582)|eating behavior (GO:0042755)|inflammatory response (GO:0006954)|long-term memory (GO:0007616)|operant conditioning (GO:0035106)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of action potential (GO:0045760)|positive regulation of blood pressure (GO:0045777)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of hormone secretion (GO:0046887)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of lymphocyte proliferation (GO:0050671)|positive regulation of ossification (GO:0045778)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of saliva secretion (GO:0046878)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of synaptic transmission, cholinergic (GO:0032224)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|positive regulation of uterine smooth muscle contraction (GO:0070474)|positive regulation of vascular permeability (GO:0043117)|positive regulation of vasoconstriction (GO:0045907)|regulation of smooth muscle cell migration (GO:0014910)|regulation of smooth muscle cell proliferation (GO:0048660)|response to auditory stimulus (GO:0010996)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to heat (GO:0009408)|response to morphine (GO:0043278)|response to nicotine (GO:0035094)|response to ozone (GO:0010193)|response to progesterone (GO:0032570)|smooth muscle contraction involved in micturition (GO:0060083)|sperm ejaculation (GO:0042713)|tachykinin receptor signaling pathway (GO:0007217)	cell body (GO:0044297)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	substance P receptor activity (GO:0016496)|tachykinin receptor activity (GO:0004995)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(8)|ovary(1)|skin(1)	24					Aprepitant(DB00673)|Ketamine(DB01221)|Vapreotide(DB04894)	TAGGCAGCTGCCCAAAGGACA	0.527																																					Pancreas(64;62 1268 3653 14826 43765)	ENST00000305249.4																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(8)|ovary(1)|skin(1)	24						c.(106-108)Gca>Aca		tachykinin receptor 1	Aprepitant(DB00673)|Ketamine(DB01221)|Vapreotide(DB04894)						146	131	136					2																	75425955		2203	4300	6503	SO:0001583	missense	6869				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|detection of abiotic stimulus|mechanosensory behavior	integral to plasma membrane	protein binding	g.chr2:75425955C>T	M76675	CCDS1958.1, CCDS46345.1	2p13.1-p12	2012-08-08			ENSG00000115353	ENSG00000115353		"GPCR / Class A : Tachykinin receptors"	11526	protein-coding gene	gene with protein product		162323		TAC1R		1657150	Standard	NM_001058		Approved	SPR, NK1R, NKIR	uc002sng.2	P25103	OTTHUMG00000129973	ENST00000305249.5:c.106G>A	2.37:g.75425955C>T	ENSP00000303522:p.Ala36Thr					TACR1_ENST00000409848.3_Missense_Mutation_p.A36T	p.A36T	NM_001058.3	NP_001049.1	P25103	NK1R_HUMAN			1	871	-			36					A8K150	Missense_Mutation	SNP	ENST00000305249.5	37	c.106G>A	CCDS1958.1	.	.	.	.	.	.	.	.	.	.	C	14.42	2.529206	0.44969	.	.	ENSG00000115353	ENST00000305249;ENST00000409848	T;T	0.38077	1.16;1.16	5.5	5.5	0.81552	.	0.048699	0.85682	D	0.000000	T	0.36110	0.0955	M	0.71296	2.17	0.58432	D	0.999999	P	0.37997	0.614	B	0.35240	0.198	T	0.10870	-1.0611	10	0.30078	T	0.28	.	11.7769	0.51991	0.1751:0.8249:0.0:0.0	.	36	P25103	NK1R_HUMAN	T	36	ENSP00000303522:A36T;ENSP00000386448:A36T	ENSP00000303522:A36T	A	-	1	0	TACR1	75279463	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	1.778000	0.38614	2.854000	0.98071	0.655000	0.94253	GCA		0.527	TACR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252239.3	NM_001058		7	8	0	0	0	1	0	7	8					T	75425955	C	T	75425955	3	4	435	1	0	0	0	0	1	0	0	0	15502	739	26	3	1141	3	TACR1	2	75425955	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	310855	75425955	167773418	1151	22076											
REG1A	5967	broad.mit.edu	37	chr2	79348783	79348783	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gctactactttaatgaagacCgtgagacctgggttgatgca	11	11	11	8	1	0	4	0	3	0	2	0	5	0	4	2	1	3	3	2	1	4	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:79348783C>T	ENST00000233735.1	+	3	263	c.160C>T	c.(160-162)Cgt>Tgt	p.R54C		NM_002909.4	NP_002900.2	P05451	REG1A_HUMAN	regenerating islet-derived 1 alpha	54	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				positive regulation of cell proliferation (GO:0008284)	extracellular vesicular exosome (GO:0070062)	carbohydrate binding (GO:0030246)|growth factor activity (GO:0008083)			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(26)|prostate(1)|upper_aerodigestive_tract(1)	39						TAATGAAGACCGTGAGACCTG	0.567																																						ENST00000233735.1																			0				NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(26)|prostate(1)|upper_aerodigestive_tract(1)	39						c.(160-162)Cgt>Tgt		regenerating islet-derived 1 alpha							161	153	156					2																	79348783		2203	4300	6503	SO:0001583	missense	5967				positive regulation of cell proliferation	extracellular region	growth factor activity|sugar binding	g.chr2:79348783C>T		CCDS1964.1	2p12	2008-09-04	2008-06-04		ENSG00000115386	ENSG00000115386			9951	protein-coding gene	gene with protein product	"pancreatic stone protein", "pancreatic thread protein"	167770	"regenerating islet-derived 1 alpha (pancreatic stone protein, pancreatic thread protein)"	REG		2332435, 8333731	Standard	NM_002909		Approved	PSP, PTP, PSPS, PSPS1	uc002snz.3	P05451	OTTHUMG00000130016	ENST00000233735.1:c.160C>T	2.37:g.79348783C>T	ENSP00000233735:p.Arg54Cys						p.R54C	NM_002909.4	NP_002900.2	P05451	REG1A_HUMAN			3	263	+			54			C-type lectin.		P11379|Q4ZG28	Missense_Mutation	SNP	ENST00000233735.1	37	c.160C>T	CCDS1964.1	.	.	.	.	.	.	.	.	.	.	c	20.3	3.963079	0.74016	.	.	ENSG00000115386	ENST00000233735	T	0.62941	-0.01	2.97	2.08	0.27032	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	2.326850	0.02047	N	0.049728	T	0.63474	0.2514	M	0.74546	2.27	0.09310	N	1	B;B	0.13594	0.003;0.008	B;B	0.08055	0.001;0.003	T	0.44390	-0.9331	10	0.52906	T	0.07	.	5.9352	0.19161	0.0:0.8516:0.0:0.1484	.	54;54	A8K7G6;P05451	.;REG1A_HUMAN	C	54	ENSP00000233735:R54C	ENSP00000233735:R54C	R	+	1	0	REG1A	79202291	0.000000	0.05858	0.001000	0.08648	0.903000	0.53119	-1.525000	0.02231	0.798000	0.33994	0.563000	0.77884	CGT		0.567	REG1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252289.1	NM_002909		23	90	0	0	0	1	0	23	90					T	79348783	C	T	79348783	3	4	435	1	0	0	0	0	1	0	0	0	13210	652	23	2	166	2	REG1A	2	79348783	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	3922828	79348783	163850590	1152	22077											
CTNNA2	1496	broad.mit.edu	37	chr2	80808885	80808885	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agcaggaagattatgatgtgCgtagcaggacaagtgttcag	13	9	14	5	1	1	2	1	1	0	1	1	4	1	4	0	2	3	4	0	2	4	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:80808885C>T	ENST00000402739.4	+	13	1953	c.1948C>T	c.(1948-1950)Cgt>Tgt	p.R650C	AC008067.2_ENST00000430876.1_RNA|CTNNA2_ENST00000496558.1_Missense_Mutation_p.R650C|CTNNA2_ENST00000466387.1_Missense_Mutation_p.R650C|CTNNA2_ENST00000361291.4_Missense_Mutation_p.R684C|AC008067.2_ENST00000609950.1_RNA|AC008067.2_ENST00000596887.1_RNA|CTNNA2_ENST00000343114.3_Missense_Mutation_p.R329C|CTNNA2_ENST00000541047.1_Missense_Mutation_p.R650C|CTNNA2_ENST00000540488.1_Missense_Mutation_p.R650C	NM_001282597.1	NP_001269526.1	P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	650					axonogenesis (GO:0007409)|brain morphogenesis (GO:0048854)|dendrite morphogenesis (GO:0048813)|muscle cell differentiation (GO:0042692)|positive regulation of muscle cell differentiation (GO:0051149)|prepulse inhibition (GO:0060134)|radial glia guided migration of Purkinje cell (GO:0021942)|regulation of synapse structural plasticity (GO:0051823)|single organismal cell-cell adhesion (GO:0016337)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|axon (GO:0030424)|basolateral plasma membrane (GO:0016323)|cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lamellipodium (GO:0030027)	structural constituent of cytoskeleton (GO:0005200)			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						TTATGATGTGCGTAGCAGGAC	0.458																																						ENST00000466387.1																			0				breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						c.(1948-1950)Cgt>Tgt		catenin (cadherin-associated protein), alpha 2							103	108	106					2																	80808885		2088	4192	6280	SO:0001583	missense	1496				axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton	g.chr2:80808885C>T		CCDS42703.2, CCDS62944.1, CCDS62945.1, CCDS74531.1	2p12-p11.1	2010-05-04			ENSG00000066032	ENSG00000066032			2510	protein-coding gene	gene with protein product	"cadherin-associated protein, related", "cancer/testis antigen 114"	114025				8432524	Standard	NM_004389		Approved	CAP-R, CT114	uc010ysf.2	P26232	OTTHUMG00000152903	ENST00000402739.4:c.1948C>T	2.37:g.80808885C>T	ENSP00000384638:p.Arg650Cys					CTNNA2_ENST00000496558.1_Missense_Mutation_p.R650C|AC008067.2_ENST00000596887.1_RNA|AC008067.2_ENST00000430876.1_RNA|CTNNA2_ENST00000541047.1_Missense_Mutation_p.R650C|CTNNA2_ENST00000361291.4_Missense_Mutation_p.R684C|CTNNA2_ENST00000402739.4_Missense_Mutation_p.R650C|CTNNA2_ENST00000540488.1_Missense_Mutation_p.R650C|CTNNA2_ENST00000343114.3_Missense_Mutation_p.R329C	p.R650C			P26232	CTNA2_HUMAN			18	2672	+			650					B3KXE5|B7Z2W7|B7Z352|B7Z898|Q4ZFW1|Q53R26|Q53R33|Q53T67|Q53T71|Q53TM8|Q7Z3L1|Q7Z3Y0	Missense_Mutation	SNP	ENST00000402739.4	37	c.1948C>T		.	.	.	.	.	.	.	.	.	.	C	35	5.488379	0.96323	.	.	ENSG00000066032	ENST00000466387;ENST00000496558;ENST00000361291;ENST00000402739;ENST00000541047;ENST00000540488;ENST00000343114	T;T;T;T;T;T;T	0.40756	1.02;1.02;1.02;1.02;1.02;1.02;1.02	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	T	0.68201	0.2975	M	0.80028	2.48	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;1.0;1.0	P;D;D;D	0.74023	0.886;0.982;0.931;0.931	T	0.68465	-0.5401	9	.	.	.	.	19.8306	0.96634	0.0:1.0:0.0:0.0	.	282;650;650;650	F6KRI5;P26232;P26232-3;P26232-2	.;CTNA2_HUMAN;.;.	C	650;650;684;650;650;650;329	ENSP00000418191:R650C;ENSP00000419295:R650C;ENSP00000355398:R684C;ENSP00000384638:R650C;ENSP00000444675:R650C;ENSP00000441705:R650C;ENSP00000341500:R329C	.	R	+	1	0	CTNNA2	80662396	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	5.926000	0.70070	2.672000	0.90937	0.650000	0.86243	CGT		0.458	CTNNA2-003	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000328511.4	NM_004389		13	12	0	0	0	1	0	13	12					T	80808885	C	T	80808885	3	4	435	1	0	0	0	0	1	0	0	0	4013	768	27	1	1790	1	CTNNA2	2	80808885	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	1460102	80808885	162390488	1153	22078											
SUCLG1	8802	broad.mit.edu	37	chr2	84660507	84660507	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gactgccccaatccaacttgCgttgtttggtgaactgcttc	7	13	9	12	1	0	1	0	1	0	0	2	2	1	1	3	1	5	3	3	1	3	4	rs202087262		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:84660507C>T	ENST00000393868.2	-	6	852	c.642G>A	c.(640-642)acG>acA	p.T214T	SUCLG1_ENST00000491123.1_5'Flank	NM_003849.3	NP_003840.2	P53597	SUCA_HUMAN	succinate-CoA ligase, alpha subunit	214					cellular metabolic process (GO:0044237)|small molecule metabolic process (GO:0044281)|succinate metabolic process (GO:0006105)|succinyl-CoA metabolic process (GO:0006104)|tricarboxylic acid cycle (GO:0006099)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|succinate-CoA ligase complex (GDP-forming) (GO:0045244)	ATP citrate synthase activity (GO:0003878)|cofactor binding (GO:0048037)|GDP binding (GO:0019003)|GTP binding (GO:0005525)|poly(A) RNA binding (GO:0044822)|succinate-CoA ligase (ADP-forming) activity (GO:0004775)|succinate-CoA ligase (GDP-forming) activity (GO:0004776)			kidney(4)|large_intestine(4)|lung(2)	10					Succinic acid(DB00139)	ATCCAACTTGCGTTGTTTGGT	0.378													C|||	1	0.000199681	0	0	5008	,	,		18120	0		0.001	False		,,,				2504	0				Ovarian(48;203 1101 37206 40305 50790)	ENST00000393868.2																			0				kidney(4)|large_intestine(4)|lung(2)	10						c.(640-642)acG>acA		succinate-CoA ligase, alpha subunit	Succinic acid(DB00139)						80	72	75					2																	84660507		2203	4300	6503	SO:0001819	synonymous_variant	8802				tricarboxylic acid cycle		ATP citrate synthase activity|GTP binding|succinate-CoA ligase (GDP-forming) activity	g.chr2:84660507C>T	Z68204	CCDS1967.2	2p11.3	2008-02-05	2008-01-08		ENSG00000163541	ENSG00000163541	6.2.1.4		11449	protein-coding gene	gene with protein product		611224	"succinate-CoA ligase, GDP-forming, alpha subunit"			9128182	Standard	NM_003849		Approved		uc002son.3	P53597	OTTHUMG00000130023	ENST00000393868.2:c.642G>A	2.37:g.84660507C>T							p.T214T	NM_003849.3	NP_003840.2	P53597	SUCA_HUMAN			6	852	-			214					Q9BWB0|Q9UNP6	Silent	SNP	ENST00000393868.2	37	c.642G>A	CCDS1967.2																																																																																				0.378	SUCLG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252298.2	NM_003849		11	12	0	0	0	1	0	11	12					T	84660507	C	T	84660507	2	4	435	1	0	0	0	0	0	0	0	1	15363	755	27	1		1	SUCLG1	2	84660507	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	3851622	84660507	158538866	1154	22079											
DNAH6	1768	broad.mit.edu	37	chr2	84811192	84811192	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ttatggaacaatatcaggtgCccacacctcctgaagacttt	12	11	7	11	0	1	2	1	1	0	1	2	3	2	3	3	2	2	0	3	2	5	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:84811192C>T	ENST00000237449.6	+	14	2307	c.2299C>T	c.(2299-2301)Ccc>Tcc	p.P767S	DNAH6_ENST00000389394.3_Missense_Mutation_p.P767S|DNAH6_ENST00000398278.2_Missense_Mutation_p.P767S			Q9C0G6	DYH6_HUMAN	dynein, axonemal, heavy chain 6	767	Stem. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(2)|breast(9)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	57						ATATCAGGTGCCCACACCTCC	0.393																																						ENST00000389394.3																			0				NS(2)|breast(9)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	57						c.(2299-2301)Ccc>Tcc		dynein, axonemal, heavy chain 6							175	167	170					2																	84811192		2203	4300	6503	SO:0001583	missense	1768				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr2:84811192C>T	U61736	CCDS46348.1	2p11.2	2011-05-24	2006-09-04		ENSG00000115423	ENSG00000115423		"Axonemal dyneins"	2951	protein-coding gene	gene with protein product		603336	"dynein, axonemal, heavy polypeptide 6", "dynein heavy chain-like 1"	DNHL1		8812413	Standard	NM_001370		Approved	Dnahc6, HL-2, FLJ37357	uc010fgb.3	Q9C0G6	OTTHUMG00000128957	ENST00000237449.6:c.2299C>T	2.37:g.84811192C>T	ENSP00000237449:p.Pro767Ser					DNAH6_ENST00000237449.6_Missense_Mutation_p.P767S|DNAH6_ENST00000398278.2_Missense_Mutation_p.P767S	p.P767S	NM_001370.1	NP_001361.1	Q9C0G6	DYH6_HUMAN			15	2436	+			767			Stem (By similarity).		A0PJN9|B5MEE0|B7ZL99|O95493|Q53QZ1|Q53TE5|Q8N1W6|Q92861|Q96BL6|Q9H030|Q9H5E1	Missense_Mutation	SNP	ENST00000237449.6	37	c.2299C>T	CCDS46348.1	.	.	.	.	.	.	.	.	.	.	C	14.10	2.433184	0.43224	.	.	ENSG00000115423	ENST00000389394;ENST00000398278;ENST00000237449	T;T;T	0.24151	1.87;1.98;1.87	5.73	3.85	0.44370	.	0.166626	0.28659	N	0.014578	T	0.43678	0.1258	M	0.66939	2.045	0.35625	D	0.809759	B;P	0.51653	0.194;0.947	B;P	0.57009	0.097;0.811	T	0.56141	-0.8028	10	0.46703	T	0.11	.	15.0581	0.71930	0.0:0.7299:0.2701:0.0	.	767;346	Q9C0G6;Q9C0G6-3	DYH6_HUMAN;.	S	767	ENSP00000374045:P767S;ENSP00000381326:P767S;ENSP00000237449:P767S	ENSP00000237449:P767S	P	+	1	0	DNAH6	84664703	0.376000	0.25098	0.819000	0.32651	0.361000	0.29550	2.576000	0.46033	0.690000	0.31570	0.591000	0.81541	CCC		0.393	DNAH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328537.2	NM_001370		32	48	0	0	0	1	0	32	48					T	84811192	C	T	84811192	3	4	435	1	0	0	0	0	1	0	0	0	4605	739	26	3	2353	3	DNAH6	2	84811192	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	150685	84811192	158388181	1155	22080											
KCMF1	56888	broad.mit.edu	37	chr2	85273242	85273242	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gttatgatgaatcgagtggtGttcgacatgtacgtagaatg	11	13	13	4	3	0	3	0	2	0	1	2	5	0	3	0	1	1	4	0	1	5	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:85273242G>A	ENST00000409785.4	+	5	801	c.442G>A	c.(442-444)Gtt>Att	p.V148I		NM_020122.4	NP_064507.3	Q9P0J7	KCMF1_HUMAN	potassium channel modulatory factor 1	148							ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			ovary(3)	3						ATCGAGTGGTGTTCGACATGT	0.413																																						ENST00000409785.3																			0				ovary(3)	3						c.(442-444)Gtt>Att		potassium channel modulatory factor 1							116	104	108					2																	85273242		1880	4097	5977	SO:0001583	missense	56888					intracellular	ligase activity|zinc ion binding	g.chr2:85273242G>A	AF155652	CCDS46350.1	2p11.2	2010-11-23			ENSG00000176407	ENSG00000176407		"Zinc fingers, ZZ-type"	20589	protein-coding gene	gene with protein product		614719					Standard	NM_020122		Approved	DEBT91, PCMF, DKFZP434L1021, ZZZ1	uc002sox.4	Q9P0J7	OTTHUMG00000153004	ENST00000409785.4:c.442G>A	2.37:g.85273242G>A	ENSP00000386738:p.Val148Ile						p.V148I	NM_020122.4	NP_064507.3	Q9P0J7	KCMF1_HUMAN			5	801	+			148					Q4ZG04|Q53SC7|Q9BWK2|Q9H8P5|Q9UFE8	Missense_Mutation	SNP	ENST00000409785.4	37	c.442G>A	CCDS46350.1	.	.	.	.	.	.	.	.	.	.	G	12.29	1.892615	0.33442	.	.	ENSG00000176407	ENST00000409785;ENST00000453448	T	0.43688	0.94	5.83	5.83	0.93111	Drought induced 19/ RING finger protein 114 (1);	0.117224	0.64402	D	0.000013	T	0.25232	0.0613	N	0.11427	0.14	0.58432	D	0.999999	B	0.26258	0.145	B	0.17979	0.02	T	0.10245	-1.0638	10	0.14252	T	0.57	-3.7841	17.6156	0.88066	0.0:0.0:1.0:0.0	.	148	Q9P0J7	KCMF1_HUMAN	I	148;97	ENSP00000386738:V148I	ENSP00000386738:V148I	V	+	1	0	KCMF1	85126753	1.000000	0.71417	1.000000	0.80357	0.883000	0.51084	8.026000	0.88783	2.763000	0.94921	0.561000	0.74099	GTT		0.413	KCMF1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328942.4	NM_020122		6	19	0	0	0	1	0	6	19					A	85273242	G	A	85273242	3	1	435	1	0	0	0	0	1	0	0	0	8000	1377	48	3	460	3	KCMF1	2	85273242	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	462050	85273242	157926131	1156	22081											
TCF7L1	83439	broad.mit.edu	37	chr2	85510659	85510659	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctcctcgatgtcccctccagCgccacagtcaaggacacgag	9	6	9	17	3	1	0	1	0	0	0	5	3	4	1	5	1	1	0	5	1	1	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:85510659C>T	ENST00000282111.3	+	4	758	c.483C>T	c.(481-483)agC>agT	p.S161S		NM_031283.2	NP_112573.1	Q9HCS4	TF7L1_HUMAN	transcription factor 7-like 1 (T-cell specific, HMG-box)	161	Pro-rich.				anterior/posterior axis specification, embryo (GO:0008595)|axial mesoderm morphogenesis (GO:0048319)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|chromatin organization (GO:0006325)|generation of neurons (GO:0048699)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter during mitosis (GO:0046022)|regulation of stem cell maintenance (GO:2000036)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|regulation of Wnt signaling pathway (GO:0030111)|skin development (GO:0043588)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|skin(4)|upper_aerodigestive_tract(1)	18						TCCCCTCCAGCGCCACAGTCA	0.517																																						ENST00000282111.3																			0				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|skin(4)|upper_aerodigestive_tract(1)	18						c.(481-483)agC>agT		transcription factor 7-like 1 (T-cell specific, HMG-box)							254	221	232					2																	85510659		2203	4300	6503	SO:0001819	synonymous_variant	83439				chromatin organization|regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:85510659C>T	X62870	CCDS1971.1	2p11.2	2008-02-05			ENSG00000152284	ENSG00000152284			11640	protein-coding gene	gene with protein product		604652		TCF3		1741298, 11085512	Standard	NM_031283		Approved		uc002soy.3	Q9HCS4	OTTHUMG00000130026	ENST00000282111.3:c.483C>T	2.37:g.85510659C>T							p.S161S	NM_031283.2	NP_112573.1	Q9HCS4	TF7L1_HUMAN			4	758	+			161			Pro-rich.		Q53R97|Q6PD70|Q9NP00	Silent	SNP	ENST00000282111.3	37	c.483C>T	CCDS1971.1																																																																																				0.517	TCF7L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252301.2	NM_031283		47	81	0	0	0	1	0	47	81					T	85510659	C	T	85510659	2	4	435	1	0	0	0	0	0	0	0	1	15694	767	27	1		1	TCF7L1	2	85510659	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	237417	85510659	157688714	1157	22082											
GGCX	2677	broad.mit.edu	37	chr2	85777082	85777082	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	actctgagtggacaggatcaGgatttgactcaggaggatta	12	10	13	6	0	3	2	2	2	1	0	3	7	3	7	0	5	0	0	0	5	1	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:85777082G>A	ENST00000233838.4	-	15	2332	c.2252C>T	c.(2251-2253)cCt>cTt	p.P751L	GGCX_ENST00000473665.1_5'Flank|GGCX_ENST00000430215.3_Missense_Mutation_p.P694L	NM_000821.5	NP_000812.2	P38435	VKGC_HUMAN	gamma-glutamyl carboxylase	751					blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|cellular protein modification process (GO:0006464)|peptidyl-glutamic acid carboxylation (GO:0017187)|post-translational protein modification (GO:0043687)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	gamma-glutamyl carboxylase activity (GO:0008488)			endometrium(3)|large_intestine(5)|lung(3)|ovary(1)|stomach(1)|urinary_tract(2)	15					Anisindione(DB01125)|Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Drotrecogin alfa(DB00055)|Menadione(DB00170)|Phylloquinone(DB01022)	GACAGGATCAGGATTTGACTC	0.468																																						ENST00000233838.3																			0				endometrium(3)|large_intestine(5)|lung(3)|ovary(1)|stomach(1)|urinary_tract(2)	15						c.(2251-2253)cCt>cTt		gamma-glutamyl carboxylase	Anisindione(DB01125)|Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Drotrecogin alfa(DB00055)|L-Glutamic Acid(DB00142)|Menadione(DB00170)|Phytonadione(DB01022)						67	66	67					2																	85777082		2203	4300	6503	SO:0001583	missense	2677				blood coagulation|peptidyl-glutamic acid carboxylation|post-translational protein modification	endoplasmic reticulum membrane|integral to membrane|membrane fraction	gamma-glutamyl carboxylase activity	g.chr2:85777082G>A		CCDS1978.1, CCDS46353.1	2p12	2008-05-21			ENSG00000115486	ENSG00000115486			4247	protein-coding gene	gene with protein product	"vitamin K-dependent gamma-carboxylase"	137167				1749935	Standard	NM_000821		Approved	VKCFD1	uc002sps.3	P38435	OTTHUMG00000130173	ENST00000233838.4:c.2252C>T	2.37:g.85777082G>A	ENSP00000233838:p.Pro751Leu					GGCX_ENST00000430215.3_Missense_Mutation_p.P694L	p.P751L	NM_000821.5	NP_000812.2	P38435	VKGC_HUMAN			15	2332	-			751					B4DMC5|E9PEE1|Q14415|Q6GU45	Missense_Mutation	SNP	ENST00000233838.4	37	c.2252C>T	CCDS1978.1	.	.	.	.	.	.	.	.	.	.	G	16.21	3.059518	0.55325	.	.	ENSG00000115486	ENST00000233838;ENST00000430215	D;D	0.93488	-3.23;-3.16	6.07	5.12	0.69794	.	1.184050	0.05727	N	0.598825	D	0.86142	0.5862	N	0.03608	-0.345	0.09310	N	1	B;B;B	0.12013	0.001;0.001;0.005	B;B;B	0.09377	0.004;0.004;0.004	T	0.71388	-0.4608	10	0.42905	T	0.14	-1.9126	13.3525	0.60609	0.0:0.0:0.8326:0.1674	.	694;567;751	E9PEE1;B4DQW4;P38435	.;.;VKGC_HUMAN	L	751;694	ENSP00000233838:P751L;ENSP00000408045:P694L	ENSP00000233838:P751L	P	-	2	0	GGCX	85630593	0.032000	0.19561	0.058000	0.19502	0.503000	0.33858	2.699000	0.47077	2.884000	0.98904	0.655000	0.94253	CCT		0.468	GGCX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252490.3	NM_000821		6	24	0	0	0	1	0	6	24					A	85777082	G	A	85777082	3	1	435	1	0	0	0	0	1	0	0	0	6356	1000	35	3	28	3	GGCX	2	85777082	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	266423	85777082	157422291	1158	22083											
GGCX	2677	broad.mit.edu	37	chr2	85778163	85778163	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	caagaagggctaggtgatgtCgtatacaccttatggtactc	11	11	11	8	1	0	2	0	1	0	1	2	2	0	2	1	3	2	3	1	3	7	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:85778163C>T	ENST00000233838.4	-	13	1853	c.1773G>A	c.(1771-1773)acG>acA	p.T591T	GGCX_ENST00000473665.1_5'Flank|GGCX_ENST00000430215.3_Silent_p.T534T	NM_000821.5	NP_000812.2	P38435	VKGC_HUMAN	gamma-glutamyl carboxylase	591					blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|cellular protein modification process (GO:0006464)|peptidyl-glutamic acid carboxylation (GO:0017187)|post-translational protein modification (GO:0043687)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	gamma-glutamyl carboxylase activity (GO:0008488)			endometrium(3)|large_intestine(5)|lung(3)|ovary(1)|stomach(1)|urinary_tract(2)	15					Anisindione(DB01125)|Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Drotrecogin alfa(DB00055)|Menadione(DB00170)|Phylloquinone(DB01022)	TAGGTGATGTCGTATACACCT	0.453																																						ENST00000233838.3																			0				endometrium(3)|large_intestine(5)|lung(3)|ovary(1)|stomach(1)|urinary_tract(2)	15						c.(1771-1773)acG>acA		gamma-glutamyl carboxylase	Anisindione(DB01125)|Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Drotrecogin alfa(DB00055)|L-Glutamic Acid(DB00142)|Menadione(DB00170)|Phytonadione(DB01022)						179	160	167					2																	85778163		2203	4300	6503	SO:0001819	synonymous_variant	2677				blood coagulation|peptidyl-glutamic acid carboxylation|post-translational protein modification	endoplasmic reticulum membrane|integral to membrane|membrane fraction	gamma-glutamyl carboxylase activity	g.chr2:85778163C>T		CCDS1978.1, CCDS46353.1	2p12	2008-05-21			ENSG00000115486	ENSG00000115486			4247	protein-coding gene	gene with protein product	"vitamin K-dependent gamma-carboxylase"	137167				1749935	Standard	NM_000821		Approved	VKCFD1	uc002sps.3	P38435	OTTHUMG00000130173	ENST00000233838.4:c.1773G>A	2.37:g.85778163C>T						GGCX_ENST00000430215.3_Silent_p.T534T	p.T591T	NM_000821.5	NP_000812.2	P38435	VKGC_HUMAN			13	1853	-			591					B4DMC5|E9PEE1|Q14415|Q6GU45	Silent	SNP	ENST00000233838.4	37	c.1773G>A	CCDS1978.1																																																																																				0.453	GGCX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252490.3	NM_000821		26	43	0	0	0	1	0	26	43					T	85778163	C	T	85778163	2	4	435	1	0	0	0	0	0	0	0	1	6356	871	31	2		2	GGCX	2	85778163	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	1081	85778163	157421210	1159	22084											
VAMP5	10791	broad.mit.edu	37	chr2	85818895	85818895	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagcaggcgaacgaggtgacGgaaattatgcgtaacaactt	14	7	12	8	4	0	1	0	1	0	0	0	4	0	2	0	3	5	2	0	3	5	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:85818895G>A	ENST00000306384.4	+	2	134	c.51G>A	c.(49-51)acG>acA	p.T17T		NM_006634.2	NP_006625.1	O95183	VAMP5_HUMAN	vesicle-associated membrane protein 5	17	v-SNARE coiled-coil homology. {ECO:0000255|PROSITE-ProRule:PRU00290}.			T -> M (in Ref. 2; AAF36111). {ECO:0000305}.	cell differentiation (GO:0030154)|Golgi to plasma membrane protein transport (GO:0043001)|muscle organ development (GO:0007517)|skeletal muscle tissue development (GO:0007519)	cell surface (GO:0009986)|cytoplasmic vesicle membrane (GO:0030659)|extracellular vesicular exosome (GO:0070062)|integral component of organelle membrane (GO:0031301)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|late endosome (GO:0005770)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)				NS(1)|large_intestine(3)|lung(1)	5						ACGAGGTGACGGAAATTATGC	0.602																																						ENST00000306384.4																			0				NS(1)|large_intestine(3)|lung(1)	5						c.(49-51)acG>acA		vesicle-associated membrane protein 5							152	129	137					2																	85818895		2203	4300	6503	SO:0001819	synonymous_variant	10791				cell differentiation|vesicle-mediated transport	endomembrane system		g.chr2:85818895G>A	AF054825	CCDS1980.1	2p11.2	2013-02-13	2012-10-17		ENSG00000168899	ENSG00000168899		"Vesicle-associated membrane proteins"	12646	protein-coding gene	gene with protein product	"myobrevin"	607029				9725904	Standard	NM_006634		Approved		uc002spu.1	O95183	OTTHUMG00000130169	ENST00000306384.4:c.51G>A	2.37:g.85818895G>A							p.T17T	NM_006634.2	NP_006625.1	O95183	VAMP5_HUMAN			2	134	+			17	T -> M (in Ref. 2; AAF36111).		v-SNARE coiled-coil homology.		Q9P0T2	Silent	SNP	ENST00000306384.4	37	c.51G>A	CCDS1980.1																																																																																				0.602	VAMP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252484.2	NM_006634		20	43	0	0	0	1	0	20	43					A	85818895	G	A	85818895	2	1	435	1	0	0	0	0	0	0	0	1	17113	1103	39	2		2	VAMP5	2	85818895	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	40732	85818895	157380478	1160	22085											
TMEM150A	129303	broad.mit.edu	37	chr2	85828160	85828160	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttacctgatgagggggacatCgtccagggtgcagcaggtct	8	9	15	9	1	1	2	0	2	1	0	3	3	2	3	2	4	3	2	2	4	1	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:85828160C>T	ENST00000409668.1	-	3	651	c.184G>A	c.(184-186)Gat>Aat	p.D62N	TMEM150A_ENST00000306353.3_Silent_p.T31T|TMEM150A_ENST00000334462.5_Missense_Mutation_p.D62N			Q86TG1	T150A_HUMAN	transmembrane protein 150A	62					catabolic process (GO:0009056)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(2)|kidney(2)|lung(1)|skin(1)	7						AGGGGGACATCGTCCAGGGTG	0.622																																						ENST00000409668.1																			0				breast(1)|endometrium(2)|kidney(2)|lung(1)|skin(1)	7						c.(184-186)Gat>Aat		transmembrane protein 150A							55	50	51					2																	85828160		2203	4300	6503	SO:0001583	missense	129303					integral to membrane|plasma membrane		g.chr2:85828160C>T	AK098152	CCDS33233.1	2p11.2	2009-06-12	2009-06-12	2009-06-12	ENSG00000168890	ENSG00000168890			24677	protein-coding gene	gene with protein product			"transmembrane protein 150"	TMEM150		10858565	Standard	NM_001031738		Approved	TM6P1, FLJ90024	uc002spy.2	Q86TG1	OTTHUMG00000130168	ENST00000409668.1:c.184G>A	2.37:g.85828160C>T	ENSP00000387292:p.Asp62Asn					TMEM150A_ENST00000306353.3_Silent_p.T31T|TMEM150A_ENST00000334462.5_Missense_Mutation_p.D62N	p.D62N			Q86TG1	T150A_HUMAN			3	651	-			62					A8K764|B7WPQ9|D6W5L2|Q8N2R6	Missense_Mutation	SNP	ENST00000409668.1	37	c.184G>A	CCDS33233.1	.	.	.	.	.	.	.	.	.	.	C	3.981	-0.006418	0.07773	.	.	ENSG00000168890	ENST00000334462;ENST00000409668	T;T	0.42900	0.96;0.96	5.06	4.18	0.49190	.	0.277582	0.39274	N	0.001403	T	0.27765	0.0683	L	0.29908	0.895	0.34689	D	0.725534	B	0.31290	0.318	B	0.23419	0.046	T	0.26155	-1.0111	10	0.17832	T	0.49	-45.7568	12.5659	0.56310	0.0:0.9117:0.0:0.0883	.	62	Q86TG1	T150A_HUMAN	N	62	ENSP00000334708:D62N;ENSP00000387292:D62N	ENSP00000334708:D62N	D	-	1	0	TMEM150A	85681671	0.918000	0.31147	0.968000	0.41197	0.915000	0.54546	1.820000	0.39032	0.537000	0.28751	-0.797000	0.03246	GAT		0.622	TMEM150A-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329474.1	NM_153342		3	18	0	0	0	1	0	3	18					T	85828160	C	T	85828160	3	4	435	1	0	0	0	0	1	0	0	0	16064	884	31	2	651	2	TMEM150A	2	85828160	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	9265	85828160	157371213	1161	22086											
SFTPB	6439	broad.mit.edu	37	chr2	85890791	85890791	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgggcagtgggctcacttggGccagcgctgtcatccatgga	6	9	15	11	1	2	0	2	0	0	0	3	1	3	1	2	4	1	3	2	4	0	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:85890791G>A	ENST00000519937.2	-	7	871	c.852C>T	c.(850-852)ggC>ggT	p.G284G	SFTPB_ENST00000409383.1_Silent_p.G296G|SFTPB_ENST00000342375.3_Silent_p.G284G|SFTPB_ENST00000393822.3_Silent_p.G296G			P07988	PSPB_HUMAN	surfactant protein B	284					organ morphogenesis (GO:0009887)|respiratory gaseous exchange (GO:0007585)|sphingolipid metabolic process (GO:0006665)	extracellular region (GO:0005576)|lysosome (GO:0005764)				central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|skin(3)	16						GCTCACTTGGGCCAGCGCTGT	0.652																																						ENST00000342375.3																			0				central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|skin(3)	16						c.(850-852)ggC>ggT		surfactant protein B							24	27	26					2																	85890791		2199	4298	6497	SO:0001819	synonymous_variant	6439				organ morphogenesis|respiratory gaseous exchange|sphingolipid metabolic process	extracellular space|lysosome		g.chr2:85890791G>A	J02761	CCDS1983.1, CCDS1983.2	2p12-p11.2	2008-08-26	2008-08-26		ENSG00000168878	ENSG00000168878			10801	protein-coding gene	gene with protein product		178640	"surfactant, pulmonary-associated protein B"	SFTP3		2924687, 1346779	Standard	NM_198843		Approved	SP-B	uc002sqh.3	P07988	OTTHUMG00000130181	ENST00000519937.2:c.852C>T	2.37:g.85890791G>A						SFTPB_ENST00000409383.1_Silent_p.G296G|SFTPB_ENST00000519937.2_Silent_p.G284G|SFTPB_ENST00000393822.3_Silent_p.G296G	p.G284G	NM_000542.3|NM_198843.2	NP_000533.3|NP_942140.2	P07988	PSPB_HUMAN			8	987	-			284					Q96R04	Silent	SNP	ENST00000519937.2	37	c.852C>T		.	.	.	.	.	.	.	.	.	.	G	4.754	0.140262	0.09083	.	.	ENSG00000168878	ENST00000428225	.	.	.	5.24	-0.0582	0.13798	.	.	.	.	.	T	0.23727	0.0574	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.25847	-1.0120	4	.	.	.	-2.3716	4.4819	0.11771	0.3799:0.1622:0.458:0.0	.	.	.	.	S	281	.	.	P	-	1	0	SFTPB	85744302	0.003000	0.15002	0.077000	0.20336	0.037000	0.13140	0.834000	0.27518	0.156000	0.19299	-0.367000	0.07326	CCC		0.652	SFTPB-001	KNOWN	alternative_3_UTR|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000252499.3	NM_198843		7	4	0	0	0	1	0	7	4					A	85890791	G	A	85890791	2	1	435	1	0	0	0	0	0	0	0	1	14191	1190	42	3		3	SFTPB	2	85890791	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	62631	85890791	157308582	1162	22087											
GNLY	10578	broad.mit.edu	37	chr2	85922499	85922499	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acctggcaagagcccacctgCgtgatgaggagaaatcctgc	11	6	12	12	1	0	4	0	2	0	2	1	5	1	4	4	2	3	1	4	2	2	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:85922499C>T	ENST00000263863.4	+	2	237	c.109C>T	c.(109-111)Cgt>Tgt	p.R37C	GNLY_ENST00000533041.1_3'UTR|GNLY_ENST00000524600.1_Missense_Mutation_p.R64C|GNLY_ENST00000409696.3_Missense_Mutation_p.R22C	NM_006433.3	NP_006424.2	P22749	GNLY_HUMAN	granulysin	37					cellular defense response (GO:0006968)|defense response to bacterium (GO:0042742)|defense response to fungus (GO:0050832)|killing of cells of other organism (GO:0031640)	extracellular space (GO:0005615)				endometrium(4)|kidney(10)|large_intestine(1)|lung(1)|skin(2)|upper_aerodigestive_tract(1)	19						AGCCCACCTGCGTGATGAGGA	0.622																																						ENST00000409696.3																			0				endometrium(4)|kidney(10)|large_intestine(1)|lung(1)|skin(2)|upper_aerodigestive_tract(1)	19						c.(64-66)Cgt>Tgt		granulysin							84	69	74					2																	85922499		2203	4300	6503	SO:0001583	missense	10578				cellular defense response|defense response to bacterium|defense response to fungus|killing of cells of other organism	extracellular space		g.chr2:85922499C>T	X54101	CCDS1984.1, CCDS46354.1	2p12-q11	2008-02-05			ENSG00000115523	ENSG00000115523			4414	protein-coding gene	gene with protein product	"T-lymphocyte activation gene 519"	188855		LAG2		2212946, 2434598	Standard	NM_012483		Approved	NKG5, LAG-2, D2S69E, TLA519	uc002sql.4	P22749	OTTHUMG00000130179	ENST00000263863.4:c.109C>T	2.37:g.85922499C>T	ENSP00000263863:p.Arg37Cys					GNLY_ENST00000263863.4_Missense_Mutation_p.R37C|GNLY_ENST00000533041.1_3'UTR|GNLY_ENST00000524600.1_Missense_Mutation_p.R64C	p.R22C	NM_012483.2	NP_036615.2	P22749	GNLY_HUMAN			3	346	+			37					P09325|Q6GU08	Missense_Mutation	SNP	ENST00000263863.4	37	c.64C>T	CCDS1984.1	.	.	.	.	.	.	.	.	.	.	C	1.371	-0.585989	0.03827	.	.	ENSG00000115523	ENST00000263863;ENST00000524600;ENST00000409696	T;T;T	0.47869	0.92;0.83;0.92	1.64	-3.28	0.05033	.	1.004380	0.08027	N	0.992858	T	0.17365	0.0417	N	0.01874	-0.695	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.11227	-1.0596	10	0.33141	T	0.24	.	3.9791	0.09487	0.0:0.3054:0.4073:0.2873	.	64;37	B4E3H9;P22749	.;GNLY_HUMAN	C	37;64;22	ENSP00000263863:R37C;ENSP00000436423:R64C;ENSP00000387116:R22C	ENSP00000263863:R37C	R	+	1	0	GNLY	85776010	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-1.589000	0.02104	-1.499000	0.01821	-2.643000	0.00151	CGT		0.622	GNLY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252497.1	NM_006433		6	17	0	0	0	1	0	6	17					T	85922499	C	T	85922499	3	4	435	1	0	0	0	0	1	0	0	0	6539	768	27	1	126	1	GNLY	2	85922499	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	31708	85922499	157276874	1163	22088											
POLR1A	25885	broad.mit.edu	37	chr2	86304988	86304988	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acacacacacacaccatgggAattccaatttcgttggtgtt	12	11	7	11	1	0	0	0	0	0	0	2	1	1	1	2	2	0	2	2	2	2	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:86304988A>G	ENST00000263857.6	-	11	1752	c.1374T>C	c.(1372-1374)atT>atC	p.I458I	POLR1A_ENST00000409681.1_Silent_p.I458I			O95602	RPA1_HUMAN	polymerase (RNA) I polypeptide A, 194kDa	458					gene expression (GO:0010467)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase I complex (GO:0005736)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	63						acacCATGGGAATTCCAATTT	0.552																																						ENST00000263857.6																			0				NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	63						c.(1372-1374)atT>atC		polymerase (RNA) I polypeptide A, 194kDa							105	107	107					2																	86304988		2003	4150	6153	SO:0001819	synonymous_variant	25885				termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	DNA-directed RNA polymerase I complex|nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|protein binding|zinc ion binding	g.chr2:86304988A>G	AK025568	CCDS42706.1	2p11.2	2013-01-21			ENSG00000068654	ENSG00000068654		"RNA polymerase subunits"	17264	protein-coding gene	gene with protein product						9236775	Standard	NM_015425		Approved	DKFZP586M0122, FLJ21915, RPO1-4, RPA1	uc002sqs.3	O95602	OTTHUMG00000153165	ENST00000263857.6:c.1374T>C	2.37:g.86304988A>G						POLR1A_ENST00000409681.1_Silent_p.I458I	p.I458I			O95602	RPA1_HUMAN			11	1752	-			458					B7Z7T0|D6W5M0|Q0VG05|Q9UEH0|Q9UFT9	Silent	SNP	ENST00000263857.6	37	c.1374T>C	CCDS42706.1																																																																																				0.552	POLR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329830.2	NM_015425		10	64	0	0	0	1	0	10	64					G	86304988	A	G	86304988	2	3	435	1	0	0	0	0	0	0	0	1	12209	242	9	4		4	POLR1A	2	86304988	Silent	SNP	A	TCGA-XK-AAIW-01A-11D-A41K-08	382489	86304988	156894385	1164	22089											
IMMT	10989	broad.mit.edu	37	chr2	86406606	86406606	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgcaggaccaagaaccatctCgaagagtttgtctgagtaag	13	9	11	8	1	2	3	0	1	2	2	3	5	2	4	2	1	2	3	2	1	4	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:86406606C>T	ENST00000410111.3	-	3	646	c.259G>A	c.(259-261)Gag>Aag	p.E87K	IMMT_ENST00000254636.5_5'UTR|IMMT_ENST00000442664.2_Missense_Mutation_p.E87K|IMMT_ENST00000449247.2_Missense_Mutation_p.E87K|IMMT_ENST00000409051.2_Missense_Mutation_p.E87K	NM_001100169.1|NM_001100170.1|NM_006839.2	NP_001093639.1|NP_001093640.1|NP_006830.2	Q16891	MIC60_HUMAN	inner membrane protein, mitochondrial	87					mitochondrial calcium ion homeostasis (GO:0051560)|response to cold (GO:0009409)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						AGAACCATCTCGAAGAGTTTG	0.383																																						ENST00000410111.3																			0				breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						c.(259-261)Gag>Aag		inner membrane protein, mitochondrial							57	53	54					2																	86406606		1833	4103	5936	SO:0001583	missense	10989					integral to mitochondrial inner membrane	protein binding	g.chr2:86406606C>T	D21094	CCDS46355.1, CCDS46356.1, CCDS46357.1	2p11.2	2011-10-04	2010-04-29		ENSG00000132305	ENSG00000132305			6047	protein-coding gene	gene with protein product	"mitofilin", "mitochondrial inner membrane organizing system 2"	600378	"inner membrane protein, mitochondrial (mitofilin)"			9168817, 8039717	Standard	NM_001100169		Approved	P87, P89, HMP, MINOS2	uc002sqz.4	Q16891	OTTHUMG00000153170	ENST00000410111.3:c.259G>A	2.37:g.86406606C>T	ENSP00000387262:p.Glu87Lys					IMMT_ENST00000449247.2_Missense_Mutation_p.E87K|IMMT_ENST00000409051.2_Missense_Mutation_p.E87K|IMMT_ENST00000254636.5_5'UTR|IMMT_ENST00000442664.2_Missense_Mutation_p.E87K	p.E87K	NM_001100169.1|NM_001100170.1|NM_006839.2	NP_001093639.1|NP_001093640.1|NP_006830.2	Q16891	IMMT_HUMAN			3	646	-			87					B1H0U5|B2R5N6|Q14539|Q15092|Q68D41|Q69HW5|Q6IBL0|Q7Z3X1|Q8TAJ5|Q9P0V2	Missense_Mutation	SNP	ENST00000410111.3	37	c.259G>A	CCDS46355.1	.	.	.	.	.	.	.	.	.	.	C	18.59	3.656377	0.67586	.	.	ENSG00000132305	ENST00000449247;ENST00000410111;ENST00000442664;ENST00000409051;ENST00000545283;ENST00000377310;ENST00000398211;ENST00000409715	T;T;T;T	0.30714	1.52;1.52;1.52;1.52	4.94	4.94	0.65067	.	0.260050	0.38897	N	0.001529	T	0.39358	0.1075	L	0.46157	1.445	0.40865	D	0.98386	P;P;P;P;D;P;P;P;P	0.60160	0.48;0.535;0.535;0.915;0.987;0.633;0.48;0.633;0.535	B;B;B;P;P;B;B;B;B	0.52424	0.207;0.212;0.311;0.461;0.698;0.207;0.207;0.207;0.311	T	0.11372	-1.0590	10	0.20046	T	0.44	-8.9532	18.181	0.89777	0.0:1.0:0.0:0.0	.	87;87;87;87;87;87;87;87;87	F5GZ32;B9A067;B4DKR1;Q05DN3;B4E2B5;F8W9I1;Q16891-2;Q16891-3;Q16891	.;.;.;.;.;.;.;.;IMMT_HUMAN	K	87	ENSP00000396899:E87K;ENSP00000387262:E87K;ENSP00000407788:E87K;ENSP00000387227:E87K	ENSP00000366526:E87K	E	-	1	0	IMMT	86260117	1.000000	0.71417	1.000000	0.80357	0.918000	0.54935	4.783000	0.62403	2.289000	0.77006	0.563000	0.77884	GAG		0.383	IMMT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000329909.2	NM_006839		5	14	0	0	0	1	0	5	14					T	86406606	C	T	86406606	3	4	435	1	0	0	0	0	1	0	0	0	7718	893	31	2	2069	2	IMMT	2	86406606	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	101618	86406606	156792767	1165	22090											
REEP1	65055	broad.mit.edu	37	chr2	86509339	86509339	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagccttgtaggaataatacGcagggtaaagggtgccaaat	14	8	12	7	1	0	0	0	0	0	0	0	1	0	1	2	3	3	3	2	3	7	5	rs121918262		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:86509339G>A	ENST00000165698.5	-	2	202	c.59C>T	c.(58-60)gCg>gTg	p.A20V	REEP1_ENST00000540790.1_5'UTR|REEP1_ENST00000538924.1_Missense_Mutation_p.A27V|REEP1_ENST00000541910.1_Missense_Mutation_p.A20V|REEP1_ENST00000473407.1_5'UTR|REEP1_ENST00000535845.1_Intron	NM_022912.2	NP_075063.1	Q9H902	REEP1_HUMAN	receptor accessory protein 1	20			A -> E (in SPG31; loss of function mutation; shows severely altered localization to numerous punctate small structures throughout the cytoplasm and no localization to the endoplasmic reticulum; does not colocalize with ATL1). {ECO:0000269|PubMed:16826527, ECO:0000269|PubMed:20718791}.		cell death (GO:0008219)|endoplasmic reticulum tubular network organization (GO:0071786)|protein insertion into membrane (GO:0051205)|regulation of intracellular transport (GO:0032386)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrion (GO:0005739)	microtubule binding (GO:0008017)|olfactory receptor binding (GO:0031849)			breast(1)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	13						GGAATAATACGCAGGGTAAAG	0.388																																						ENST00000165698.5																			0				breast(1)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	13	GRCh37	CM063094	REEP1	M	rs121918262	c.(58-60)gCg>gTg		receptor accessory protein 1							170	166	167					2																	86509339		2203	4300	6503	SO:0001583	missense	65055				cell death|protein insertion into membrane	integral to membrane|mitochondrial membrane	olfactory receptor binding	g.chr2:86509339G>A	AK023172	CCDS1989.1, CCDS54372.1, CCDS54373.1, CCDS54374.1	2p11.2	2014-09-17	2006-02-07	2006-02-07	ENSG00000068615	ENSG00000068615		"Receptor accessory proteins"	25786	protein-coding gene	gene with protein product	"receptor expression enhancing protein 1"	609139	"chromosome 2 open reading frame 23"	C2orf23		16271481, 15550249	Standard	NM_022912		Approved	FLJ13110, SPG31	uc002srh.4	Q9H902	OTTHUMG00000130205	ENST00000165698.5:c.59C>T	2.37:g.86509339G>A	ENSP00000165698:p.Ala20Val					REEP1_ENST00000473407.1_5'UTR|REEP1_ENST00000535845.1_Intron|REEP1_ENST00000538924.1_Missense_Mutation_p.A27V|REEP1_ENST00000540790.1_5'UTR|REEP1_ENST00000541910.1_Missense_Mutation_p.A20V	p.A20V	NM_022912.2	NP_075063.1	Q9H902	REEP1_HUMAN			2	202	-			20		A -> E (in SPG31).			B7Z4D7|B7Z4F2|B7Z5R9|D6W5M2|Q53TI0	Missense_Mutation	SNP	ENST00000165698.5	37	c.59C>T	CCDS1989.1	.	.	.	.	.	.	.	.	.	.	G	27.6	4.845369	0.91197	.	.	ENSG00000068615	ENST00000165698;ENST00000541910;ENST00000538924;ENST00000437769;ENST00000453231	D;D;D;D;D	0.93488	-3.23;-3.23;-3.23;-3.23;-3.23	4.35	4.35	0.52113	.	0.114838	0.64402	D	0.000013	D	0.96756	0.8941	M	0.84948	2.725	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.85130	0.997;0.966	D	0.97114	0.9806	10	0.56958	D	0.05	.	15.8492	0.78912	0.0:0.0:1.0:0.0	.	20;20	B7Z4D7;Q9H902	.;REEP1_HUMAN	V	20;20;27;20;27	ENSP00000165698:A20V;ENSP00000442681:A20V;ENSP00000438346:A27V;ENSP00000401140:A20V;ENSP00000392197:A27V	ENSP00000165698:A20V	A	-	2	0	REEP1	86362850	1.000000	0.71417	0.994000	0.49952	0.982000	0.71751	7.399000	0.79935	2.263000	0.75096	0.549000	0.68633	GCG		0.388	REEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252523.2	NM_022912		56	95	0	0	0	1	0	56	95					A	86509339	G	A	86509339	3	1	435	1	0	0	0	0	1	0	0	0	13204	1087	38	1	631	1	REEP1	2	86509339	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	102733	86509339	156690034	1166	22091											
KDM3A	55818	broad.mit.edu	37	chr2	86701961	86701961	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttaacaccaaacaagtatgAcaatgaagcaattggcttgt	16	10	7	8	0	0	2	0	2	0	0	0	2	0	2	1	1	3	3	1	1	7	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:86701961A>G	ENST00000409556.1	+	13	2152	c.1787A>G	c.(1786-1788)gAc>gGc	p.D596G	KDM3A_ENST00000542128.1_Missense_Mutation_p.D544G|KDM3A_ENST00000485171.1_3'UTR|KDM3A_ENST00000312912.5_Missense_Mutation_p.D596G|KDM3A_ENST00000409064.1_Missense_Mutation_p.D596G			Q9Y4C1	KDM3A_HUMAN	lysine (K)-specific demethylase 3A	596					androgen receptor signaling pathway (GO:0030521)|formaldehyde biosynthetic process (GO:0046293)|histone H3-K9 demethylation (GO:0033169)|histone H3-K9 dimethylation (GO:0036123)|hormone-mediated signaling pathway (GO:0009755)|negative regulation of histone H3-K9 methylation (GO:0051573)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|spermatid nucleus elongation (GO:0007290)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|core promoter binding (GO:0001047)|dioxygenase activity (GO:0051213)|iron ion binding (GO:0005506)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|liver(1)|lung(13)|ovary(1)|prostate(3)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	47						AACAAGTATGACAATGAAGCA	0.418																																					NSCLC(96;1150 1523 6936 46253 49736)	ENST00000409556.1																			0				NS(1)|breast(3)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|liver(1)|lung(13)|ovary(1)|prostate(3)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	47						c.(1786-1788)gAc>gGc		lysine (K)-specific demethylase 3A							219	187	198					2																	86701961		2203	4300	6503	SO:0001583	missense	55818				androgen receptor signaling pathway|cell differentiation|formaldehyde biosynthetic process|histone H3-K9 demethylation|hormone-mediated signaling pathway|positive regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	cytoplasm|nucleus	androgen receptor binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr2:86701961A>G	AB018285	CCDS1990.1	2p11.2	2011-07-01	2009-04-06	2009-04-06	ENSG00000115548	ENSG00000115548		"Chromatin-modifying enzymes / K-demethylases"	20815	protein-coding gene	gene with protein product	"jumonji C domain-containing histone demethylase 2A"	611512	"jumonji domain containing 1", "jumonji domain containing 1A"	JMJD1, JMJD1A		9872452	Standard	NM_018433		Approved	TSGA, KIAA0742, JHMD2A	uc010ytj.2	Q9Y4C1	OTTHUMG00000130204	ENST00000409556.1:c.1787A>G	2.37:g.86701961A>G	ENSP00000386660:p.Asp596Gly					KDM3A_ENST00000409064.1_Missense_Mutation_p.D596G|KDM3A_ENST00000312912.5_Missense_Mutation_p.D596G|KDM3A_ENST00000542128.1_Missense_Mutation_p.D544G|KDM3A_ENST00000485171.1_3'UTR	p.D596G			Q9Y4C1	KDM3A_HUMAN			13	2152	+			596					D6W5M3|Q53S72|Q68D47|Q68UT9|Q6N050|Q8IY08	Missense_Mutation	SNP	ENST00000409556.1	37	c.1787A>G	CCDS1990.1	.	.	.	.	.	.	.	.	.	.	A	27.1	4.796153	0.90453	.	.	ENSG00000115548	ENST00000409556;ENST00000540058;ENST00000312912;ENST00000409064;ENST00000542128	T;T;T;T	0.64618	-0.11;-0.11;-0.11;-0.11	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	T	0.77130	0.4085	M	0.64404	1.975	0.58432	D	0.999999	D;D	0.89917	1.0;0.993	D;D	0.91635	0.999;0.93	T	0.78526	-0.2170	10	0.62326	D	0.03	.	15.7569	0.78037	1.0:0.0:0.0:0.0	.	544;596	F5H070;Q9Y4C1	.;KDM3A_HUMAN	G	596;596;596;596;544	ENSP00000386660:D596G;ENSP00000323659:D596G;ENSP00000386516:D596G;ENSP00000438324:D544G	ENSP00000323659:D596G	D	+	2	0	KDM3A	86555472	1.000000	0.71417	0.994000	0.49952	0.802000	0.45316	6.046000	0.71029	2.371000	0.80710	0.533000	0.62120	GAC		0.418	KDM3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252522.2	NM_018433		15	92	0	0	0	1	0	15	92					G	86701961	A	G	86701961	3	3	435	1	0	0	0	0	1	0	0	0	8126	275	10	4	1829	4	KDM3A	2	86701961	Missense_Mutation	SNP	A	TCGA-XK-AAIW-01A-11D-A41K-08	192622	86701961	156497412	1167	22092											
KDM3A	55818	broad.mit.edu	37	chr2	86707425	86707425	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcctgcctgtccagccagcAcatctcctctaaactggctg	8	9	8	16	0	2	0	0	0	2	0	4	0	3	0	5	1	5	2	5	1	2	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:86707425A>G	ENST00000409556.1	+	17	2817	c.2452A>G	c.(2452-2454)Aca>Gca	p.T818A	KDM3A_ENST00000542128.1_Missense_Mutation_p.T766A|KDM3A_ENST00000312912.5_Missense_Mutation_p.T818A|KDM3A_ENST00000409064.1_Missense_Mutation_p.T818A			Q9Y4C1	KDM3A_HUMAN	lysine (K)-specific demethylase 3A	818					androgen receptor signaling pathway (GO:0030521)|formaldehyde biosynthetic process (GO:0046293)|histone H3-K9 demethylation (GO:0033169)|histone H3-K9 dimethylation (GO:0036123)|hormone-mediated signaling pathway (GO:0009755)|negative regulation of histone H3-K9 methylation (GO:0051573)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|spermatid nucleus elongation (GO:0007290)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|core promoter binding (GO:0001047)|dioxygenase activity (GO:0051213)|iron ion binding (GO:0005506)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|liver(1)|lung(13)|ovary(1)|prostate(3)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	47						TCCAGCCAGCACATCTCCTCT	0.542																																					NSCLC(96;1150 1523 6936 46253 49736)	ENST00000409556.1																			0				NS(1)|breast(3)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|liver(1)|lung(13)|ovary(1)|prostate(3)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	47						c.(2452-2454)Aca>Gca		lysine (K)-specific demethylase 3A							74	84	81					2																	86707425		2203	4300	6503	SO:0001583	missense	55818				androgen receptor signaling pathway|cell differentiation|formaldehyde biosynthetic process|histone H3-K9 demethylation|hormone-mediated signaling pathway|positive regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	cytoplasm|nucleus	androgen receptor binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr2:86707425A>G	AB018285	CCDS1990.1	2p11.2	2011-07-01	2009-04-06	2009-04-06	ENSG00000115548	ENSG00000115548		"Chromatin-modifying enzymes / K-demethylases"	20815	protein-coding gene	gene with protein product	"jumonji C domain-containing histone demethylase 2A"	611512	"jumonji domain containing 1", "jumonji domain containing 1A"	JMJD1, JMJD1A		9872452	Standard	NM_018433		Approved	TSGA, KIAA0742, JHMD2A	uc010ytj.2	Q9Y4C1	OTTHUMG00000130204	ENST00000409556.1:c.2452A>G	2.37:g.86707425A>G	ENSP00000386660:p.Thr818Ala					KDM3A_ENST00000409064.1_Missense_Mutation_p.T818A|KDM3A_ENST00000312912.5_Missense_Mutation_p.T818A|KDM3A_ENST00000542128.1_Missense_Mutation_p.T766A	p.T818A			Q9Y4C1	KDM3A_HUMAN			17	2817	+			818					D6W5M3|Q53S72|Q68D47|Q68UT9|Q6N050|Q8IY08	Missense_Mutation	SNP	ENST00000409556.1	37	c.2452A>G	CCDS1990.1	.	.	.	.	.	.	.	.	.	.	A	11.00	1.511634	0.27036	.	.	ENSG00000115548	ENST00000409556;ENST00000540058;ENST00000312912;ENST00000409064;ENST00000542128	T;T;T;T	0.57907	0.37;0.37;0.37;0.37	5.86	-5.59	0.02505	.	0.494374	0.21760	N	0.069533	T	0.21590	0.0520	N	0.16478	0.41	0.09310	N	0.99999	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.10590	-1.0623	10	0.18710	T	0.47	.	1.2391	0.01959	0.313:0.1126:0.1451:0.4293	.	766;818	F5H070;Q9Y4C1	.;KDM3A_HUMAN	A	818;818;818;818;766	ENSP00000386660:T818A;ENSP00000323659:T818A;ENSP00000386516:T818A;ENSP00000438324:T766A	ENSP00000323659:T818A	T	+	1	0	KDM3A	86560936	0.035000	0.19736	0.132000	0.22025	0.966000	0.64601	0.051000	0.14141	-0.427000	0.07350	0.528000	0.53228	ACA		0.542	KDM3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252522.2	NM_018433		3	24	0	0	0	1	0	3	24					G	86707425	A	G	86707425	3	3	435	1	0	0	0	0	1	0	0	0	8126	159	6	4	2510	4	KDM3A	2	86707425	Missense_Mutation	SNP	A	TCGA-XK-AAIW-01A-11D-A41K-08	5464	86707425	156491948	1168	22093											
KDM3A	55818	broad.mit.edu	37	chr2	86716755	86716755	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atatatgctgcaaaggacacGgagaagataagggaatttct	16	9	11	5	1	1	2	0	0	1	2	1	5	1	4	0	3	2	2	0	3	6	4	rs543853687		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:86716755G>A	ENST00000409556.1	+	24	3911	c.3546G>A	c.(3544-3546)acG>acA	p.T1182T	KDM3A_ENST00000542128.1_Silent_p.T1130T|KDM3A_ENST00000312912.5_Silent_p.T1182T|KDM3A_ENST00000409064.1_Silent_p.T1182T			Q9Y4C1	KDM3A_HUMAN	lysine (K)-specific demethylase 3A	1182	JmjC. {ECO:0000255|PROSITE- ProRule:PRU00538}.				androgen receptor signaling pathway (GO:0030521)|formaldehyde biosynthetic process (GO:0046293)|histone H3-K9 demethylation (GO:0033169)|histone H3-K9 dimethylation (GO:0036123)|hormone-mediated signaling pathway (GO:0009755)|negative regulation of histone H3-K9 methylation (GO:0051573)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|spermatid nucleus elongation (GO:0007290)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|core promoter binding (GO:0001047)|dioxygenase activity (GO:0051213)|iron ion binding (GO:0005506)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|liver(1)|lung(13)|ovary(1)|prostate(3)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	47						CAAAGGACACGGAGAAGATAA	0.413													G|||	1	0.000199681	0	0	5008	,	,		23183	0		0	False		,,,				2504	0.001				NSCLC(96;1150 1523 6936 46253 49736)	ENST00000409556.1																			0				NS(1)|breast(3)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|liver(1)|lung(13)|ovary(1)|prostate(3)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	47						c.(3544-3546)acG>acA		lysine (K)-specific demethylase 3A							119	110	113					2																	86716755		2203	4300	6503	SO:0001819	synonymous_variant	55818				androgen receptor signaling pathway|cell differentiation|formaldehyde biosynthetic process|histone H3-K9 demethylation|hormone-mediated signaling pathway|positive regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	cytoplasm|nucleus	androgen receptor binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr2:86716755G>A	AB018285	CCDS1990.1	2p11.2	2011-07-01	2009-04-06	2009-04-06	ENSG00000115548	ENSG00000115548		"Chromatin-modifying enzymes / K-demethylases"	20815	protein-coding gene	gene with protein product	"jumonji C domain-containing histone demethylase 2A"	611512	"jumonji domain containing 1", "jumonji domain containing 1A"	JMJD1, JMJD1A		9872452	Standard	NM_018433		Approved	TSGA, KIAA0742, JHMD2A	uc010ytj.2	Q9Y4C1	OTTHUMG00000130204	ENST00000409556.1:c.3546G>A	2.37:g.86716755G>A						KDM3A_ENST00000409064.1_Silent_p.T1182T|KDM3A_ENST00000312912.5_Silent_p.T1182T|KDM3A_ENST00000542128.1_Silent_p.T1130T	p.T1182T			Q9Y4C1	KDM3A_HUMAN			24	3911	+			1182			JmjC.		D6W5M3|Q53S72|Q68D47|Q68UT9|Q6N050|Q8IY08	Silent	SNP	ENST00000409556.1	37	c.3546G>A	CCDS1990.1																																																																																				0.413	KDM3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252522.2	NM_018433		19	67	0	0	0	1	0	19	67					A	86716755	G	A	86716755	2	1	435	1	0	0	0	0	0	0	0	1	8126	1103	39	2		2	KDM3A	2	86716755	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	9330	86716755	156482618	1169	22094											
RNF103	7844	broad.mit.edu	37	chr2	86832362	86832362	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccattcttctttcaagtgtTcagcattataaatggttttg	9	19	6	7	0	4	0	2	0	2	0	5	0	5	0	1	1	1	3	1	1	4	8			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:86832362T>C	ENST00000237455.4	-	4	1630	c.662A>G	c.(661-663)gAa>gGa	p.E221G	AC015971.2_ENST00000439077.1_RNA|RNF103-CHMP3_ENST00000604011.1_Intron|CHMP3_ENST00000439940.2_Intron|RNF103_ENST00000477307.1_5'UTR|AC015971.2_ENST00000597638.1_RNA|AC015971.2_ENST00000424788.1_RNA|AC015971.2_ENST00000426549.1_RNA	NM_001198951.1|NM_005667.3	NP_001185880.1|NP_005658.1	O00237	RN103_HUMAN	ring finger protein 103	221					central nervous system development (GO:0007417)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|protein ubiquitination (GO:0016567)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(7)|skin(2)	25						TTTCAAGTGTTCAGCATTATA	0.368																																						ENST00000237455.4																			0				central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(7)|skin(2)	25						c.(661-663)gAa>gGa		ring finger protein 103							114	116	115					2																	86832362		2203	4300	6503	SO:0001583	missense	7844				central nervous system development|ER-associated protein catabolic process	endoplasmic reticulum membrane|integral to membrane	protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr2:86832362T>C	D76444	CCDS33237.1	2p11.2	2013-01-09	2003-05-14	2003-05-16	ENSG00000239305	ENSG00000239305		"RING-type (C3HC4) zinc fingers"	12859	protein-coding gene	gene with protein product		602507	"zinc finger protein 103 homolog (mouse)"	ZFP103		9070305	Standard	NM_005667		Approved	hkf-1, KF1	uc021vkg.1	O00237	OTTHUMG00000153197	ENST00000237455.4:c.662A>G	2.37:g.86832362T>C	ENSP00000237455:p.Glu221Gly					AC015971.2_ENST00000439077.1_RNA|AC015971.2_ENST00000426549.1_RNA|AC015971.2_ENST00000424788.1_RNA|RNF103-CHMP3_ENST00000604011.1_Intron|AC015971.2_ENST00000597638.1_RNA|RNF103_ENST00000477307.1_5'UTR|CHMP3_ENST00000439940.2_Intron	p.E221G	NM_001198951.1|NM_005667.3	NP_001185880.1|NP_005658.1	O00237	RN103_HUMAN			4	1630	-			221					A6NFV6|B2RAG4|Q53SU6|Q8IVB9	Missense_Mutation	SNP	ENST00000237455.4	37	c.662A>G	CCDS33237.1	.	.	.	.	.	.	.	.	.	.	T	11.45	1.643015	0.29246	.	.	ENSG00000239305	ENST00000237455	T	0.47869	0.83	5.64	4.47	0.54385	.	0.249502	0.45606	D	0.000349	T	0.33702	0.0872	N	0.22421	0.69	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.16541	-1.0399	10	0.52906	T	0.07	-4.1389	11.7518	0.51853	0.0:0.0701:0.0:0.9299	.	221	O00237	RN103_HUMAN	G	221	ENSP00000237455:E221G	ENSP00000237455:E221G	E	-	2	0	RNF103	86685873	0.947000	0.32204	1.000000	0.80357	0.990000	0.78478	2.961000	0.49168	2.148000	0.66965	0.460000	0.39030	GAA		0.368	RNF103-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330041.2	NM_005667		41	59	0	0	0	1	0	41	59					C	86832362	T	C	86832362	3	2	435	1	0	0	0	0	1	0	0	0	13423	1783	62	4	1399	4	RNF103	2	86832362	Missense_Mutation	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	115607	86832362	156367011	1170	22095											
RNF103	7844	broad.mit.edu	37	chr2	86839316	86839316	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acagttaaatgtgcctgtacGtattccaaatcttgacacct	12	13	6	10	1	1	1	0	1	1	0	2	1	2	1	3	0	2	3	3	0	5	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:86839316G>A	ENST00000237455.4	-	3	1416	c.448C>T	c.(448-450)Cgt>Tgt	p.R150C	AC015971.2_ENST00000439077.1_RNA|RNF103-CHMP3_ENST00000604011.1_Intron|CHMP3_ENST00000439940.2_Intron|RNF103_ENST00000477307.1_5'UTR|AC015971.2_ENST00000597638.1_RNA|AC015971.2_ENST00000424788.1_RNA|AC015971.2_ENST00000426549.1_RNA	NM_001198951.1|NM_005667.3	NP_001185880.1|NP_005658.1	O00237	RN103_HUMAN	ring finger protein 103	150					central nervous system development (GO:0007417)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|protein ubiquitination (GO:0016567)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(7)|skin(2)	25						GTGCCTGTACGTATTCCAAAT	0.388																																						ENST00000237455.4																			0				central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(7)|skin(2)	25						c.(448-450)Cgt>Tgt		ring finger protein 103							135	126	129					2																	86839316		2203	4300	6503	SO:0001583	missense	7844				central nervous system development|ER-associated protein catabolic process	endoplasmic reticulum membrane|integral to membrane	protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr2:86839316G>A	D76444	CCDS33237.1	2p11.2	2013-01-09	2003-05-14	2003-05-16	ENSG00000239305	ENSG00000239305		"RING-type (C3HC4) zinc fingers"	12859	protein-coding gene	gene with protein product		602507	"zinc finger protein 103 homolog (mouse)"	ZFP103		9070305	Standard	NM_005667		Approved	hkf-1, KF1	uc021vkg.1	O00237	OTTHUMG00000153197	ENST00000237455.4:c.448C>T	2.37:g.86839316G>A	ENSP00000237455:p.Arg150Cys					AC015971.2_ENST00000439077.1_RNA|AC015971.2_ENST00000426549.1_RNA|AC015971.2_ENST00000424788.1_RNA|RNF103-CHMP3_ENST00000604011.1_Intron|AC015971.2_ENST00000597638.1_RNA|RNF103_ENST00000477307.1_5'UTR|CHMP3_ENST00000439940.2_Intron	p.R150C	NM_001198951.1|NM_005667.3	NP_001185880.1|NP_005658.1	O00237	RN103_HUMAN			3	1416	-			150					A6NFV6|B2RAG4|Q53SU6|Q8IVB9	Missense_Mutation	SNP	ENST00000237455.4	37	c.448C>T	CCDS33237.1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.506834	0.85282	.	.	ENSG00000239305	ENST00000237455	T	0.56776	0.44	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	T	0.71904	0.3395	M	0.62723	1.935	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	T	0.73610	-0.3928	10	0.87932	D	0	-9.4627	19.5655	0.95391	0.0:0.0:1.0:0.0	.	150	O00237	RN103_HUMAN	C	150	ENSP00000237455:R150C	ENSP00000237455:R150C	R	-	1	0	RNF103	86692827	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.203000	0.77864	2.639000	0.89480	0.591000	0.81541	CGT		0.388	RNF103-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330041.2	NM_005667		30	39	0	0	0	1	0	30	39					A	86839316	G	A	86839316	3	1	435	1	0	0	0	0	1	0	0	0	13423	1145	40	1	1617	1	RNF103	2	86839316	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	6954	86839316	156360057	1171	22096											
THNSL2	55258	broad.mit.edu	37	chr2	88484886	88484886	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgtgtcagtgtcggatgaaGccatcacccagaccatgggc	9	7	12	13	2	2	2	2	1	0	1	3	3	2	3	4	2	1	0	4	2	1	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:88484886G>A	ENST00000324166.5	+	7	2808	c.1117G>A	c.(1117-1119)Gcc>Acc	p.A373T	THNSL2_ENST00000377254.3_Intron|THNSL2_ENST00000402102.1_Intron|THNSL2_ENST00000343544.4_Intron|THNSL2_ENST00000358591.2_Missense_Mutation_p.A373T|THNSL2_ENST00000449349.1_Intron|THNSL2_ENST00000496844.1_Intron	NM_018271.4	NP_060741.3	Q86YJ6	THNS2_HUMAN	threonine synthase-like 2 (S. cerevisiae)	373					2-oxobutyrate biosynthetic process (GO:0046360)|dephosphorylation (GO:0016311)|serine family amino acid catabolic process (GO:0009071)	extracellular space (GO:0005615)	lyase activity (GO:0016829)|pyridoxal phosphate binding (GO:0030170)|serine binding (GO:0070905)			breast(4)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)	27						GTCGGATGAAGCCATCACCCA	0.562																																						ENST00000324166.5																			0				breast(4)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)	27						c.(1117-1119)Gcc>Acc		threonine synthase-like 2 (S. cerevisiae)							41	47	45					2																	88484886		2191	4299	6490	SO:0001583	missense	55258				threonine biosynthetic process		threonine synthase activity	g.chr2:88484886G>A		CCDS2002.2, CCDS58718.1, CCDS74539.1	2p11.2	2007-06-20			ENSG00000144115	ENSG00000144115			25602	protein-coding gene	gene with protein product		611261				17034760	Standard	NM_018271		Approved	FLJ10916	uc021vkr.1	Q86YJ6	OTTHUMG00000130314	ENST00000324166.5:c.1117G>A	2.37:g.88484886G>A	ENSP00000327323:p.Ala373Thr					THNSL2_ENST00000402102.1_Intron|THNSL2_ENST00000358591.2_Missense_Mutation_p.A373T|THNSL2_ENST00000343544.4_Intron|THNSL2_ENST00000449349.1_Intron|THNSL2_ENST00000496844.1_Intron|THNSL2_ENST00000377254.3_Intron	p.A373T	NM_018271.4	NP_060741.3	Q86YJ6	THNS2_HUMAN			7	2808	+			373					B3KTB1|B5MDX8|B7WPF8|D9ZZB8|Q6P2M7|Q6PI27|Q9NV54	Missense_Mutation	SNP	ENST00000324166.5	37	c.1117G>A	CCDS2002.2	.	.	.	.	.	.	.	.	.	.	G	7.328	0.618262	0.14129	.	.	ENSG00000144115	ENST00000358591;ENST00000324166	D;D	0.96856	-4.15;-4.15	5.81	2.1	0.27182	Threonine synthase (1);Pyridoxal phosphate-dependent enzyme, beta subunit (2);	0.385978	0.27891	N	0.017424	D	0.90885	0.7136	N	0.21508	0.67	0.80722	D	1	B	0.09022	0.002	B	0.11329	0.006	T	0.82874	-0.0241	10	0.45353	T	0.12	.	8.4936	0.33115	0.359:0.0:0.641:0.0	.	373	Q86YJ6	THNS2_HUMAN	T	373	ENSP00000351402:A373T;ENSP00000327323:A373T	ENSP00000327323:A373T	A	+	1	0	THNSL2	88266001	0.996000	0.38824	0.291000	0.24904	0.050000	0.14768	1.042000	0.30303	0.118000	0.18165	-0.140000	0.14226	GCC		0.562	THNSL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252662.1	NM_018271		14	19	0	0	0	1	0	14	19					A	88484886	G	A	88484886	3	1	435	1	0	0	0	0	1	0	0	0	15860	971	34	3	1143	3	THNSL2	2	88484886	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	1645570	88484886	154714487	1172	22097											
ZNF514	84874	broad.mit.edu	37	chr2	95818980	95818980	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ccactggctgaattccacagCcacatcttcaaatgtcatca	12	10	5	14	0	4	1	3	1	1	0	5	1	5	1	3	1	1	1	3	1	2	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:95818980C>T	ENST00000295208.2	-	3	481	c.19G>A	c.(19-21)Gct>Act	p.A7T	ZNF514_ENST00000411425.1_Missense_Mutation_p.A7T	NM_032788.1	NP_116177.1	Q96K75	ZN514_HUMAN	zinc finger protein 514	7	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			large_intestine(4)|lung(6)|urinary_tract(1)	11						AATTCCACAGCCACATCTTCA	0.478																																						ENST00000295208.2																			0				large_intestine(4)|lung(6)|urinary_tract(1)	11						c.(19-21)Gct>Act		zinc finger protein 514							70	68	69					2																	95818980		2203	4300	6503	SO:0001583	missense	84874				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr2:95818980C>T	AL832263	CCDS2011.1	2q11.2	2013-01-08			ENSG00000144026	ENSG00000144026		"Zinc fingers, C2H2-type", "-"	25894	protein-coding gene	gene with protein product							Standard	NM_032788		Approved	FLJ14457	uc002sue.1	Q96K75	OTTHUMG00000130391	ENST00000295208.2:c.19G>A	2.37:g.95818980C>T	ENSP00000295208:p.Ala7Thr					ZNF514_ENST00000411425.1_Missense_Mutation_p.A7T	p.A7T	NM_032788.1	NP_116177.1	Q96K75	ZN514_HUMAN			3	481	-			7			KRAB.		Q5JPJ3	Missense_Mutation	SNP	ENST00000295208.2	37	c.19G>A	CCDS2011.1	.	.	.	.	.	.	.	.	.	.	C	15.15	2.747028	0.49257	.	.	ENSG00000144026	ENST00000295208;ENST00000411425;ENST00000447814	T;T;T	0.03065	4.06;4.06;4.06	2.96	1.98	0.26296	Krueppel-associated box (4);	.	.	.	.	T	0.04137	0.0115	L	0.49513	1.565	0.24012	N	0.996174	B	0.12630	0.006	B	0.10450	0.005	T	0.40327	-0.9569	9	0.62326	D	0.03	.	3.1395	0.06451	0.2501:0.5847:0.0:0.1652	.	7	Q96K75	ZN514_HUMAN	T	7;7;23	ENSP00000295208:A7T;ENSP00000405509:A7T;ENSP00000399647:A23T	ENSP00000295208:A7T	A	-	1	0	ZNF514	95182707	1.000000	0.71417	0.998000	0.56505	0.566000	0.35808	0.902000	0.28459	0.487000	0.27698	-0.345000	0.07892	GCT		0.478	ZNF514-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252769.1	NM_032788		20	31	0	0	0	1	0	20	31					T	95818980	C	T	95818980	3	4	435	1	0	0	0	0	1	0	0	0	17956	739	26	3	1195	3	ZNF514	2	95818980	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	7334094	95818980	147380393	1173	22098											
GPAT2	150763	broad.mit.edu	37	chr2	96690302	96690302	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atgcgcagcagggccacgtgCgcccgcagcaggctcagtga	8	4	15	14	4	1	1	1	1	0	0	1	1	1	1	2	2	4	5	2	2	0	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:96690302C>T	ENST00000434632.1	-	16	2001	c.1542G>A	c.(1540-1542)gcG>gcA	p.A514A	GPAT2_ENST00000359548.4_Silent_p.A514A|FAHD2CP_ENST00000607780.1_RNA|GPAT2_ENST00000377137.3_Silent_p.A514A|GPAT2_ENST00000453542.1_Silent_p.A443A			Q6NUI2	GPAT2_HUMAN	glycerol-3-phosphate acyltransferase 2, mitochondrial	514					CDP-diacylglycerol biosynthetic process (GO:0016024)|glycerol-3-phosphate metabolic process (GO:0006072)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidic acid biosynthetic process (GO:0006654)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	glycerol-3-phosphate O-acyltransferase activity (GO:0004366)			NS(1)|breast(1)|cervix(1)|endometrium(4)|large_intestine(1)|lung(5)|skin(3)	16						GGGCCACGTGCGCCCGCAGCA	0.647																																						ENST00000434632.1																			0				NS(1)|breast(1)|cervix(1)|endometrium(4)|large_intestine(1)|lung(5)|skin(3)	16						c.(1540-1542)gcG>gcA		glycerol-3-phosphate acyltransferase 2, mitochondrial							47	54	52					2																	96690302		2112	4226	6338	SO:0001819	synonymous_variant	150763				glycerol-3-phosphate metabolic process|phospholipid biosynthetic process|triglyceride biosynthetic process	integral to membrane|mitochondrial outer membrane	glycerol-3-phosphate O-acyltransferase activity	g.chr2:96690302C>T	BC042847	CCDS42714.1	2q11.2	2010-05-04			ENSG00000186281	ENSG00000186281			27168	protein-coding gene	gene with protein product	"cancer/testis antigen 123"					12477932	Standard	NM_207328		Approved	CT123	uc010yuf.1	Q6NUI2	OTTHUMG00000155208	ENST00000434632.1:c.1542G>A	2.37:g.96690302C>T						GPAT2_ENST00000377137.3_Silent_p.A514A|GPAT2_ENST00000453542.1_Silent_p.A443A|GPAT2_ENST00000359548.4_Silent_p.A514A	p.A514A			Q6NUI2	GPAT2_HUMAN			16	2001	-			514					Q6P2E4|Q6ZNI3|Q6ZNI5|Q6ZWJ4	Silent	SNP	ENST00000434632.1	37	c.1542G>A	CCDS42714.1																																																																																				0.647	GPAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338786.1	NM_207328		6	32	0	0	0	1	0	6	32					T	96690302	C	T	96690302	2	4	435	1	0	0	0	0	0	0	0	1	6589	755	27	1		1	GPAT2	2	96690302	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	871322	96690302	146509071	1174	22099											
ADRA2B	151	broad.mit.edu	37	chr2	96781468	96781468	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggcggcagcgagatgacggCggcgatgagccacacagtga	10	3	18	10	5	0	4	0	3	0	1	0	6	0	4	1	4	2	1	1	4	0	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:96781468C>T	ENST00000409345.3	-	1	516	c.421G>A	c.(421-423)Gcc>Acc	p.A141T		NM_000682.5	NP_000673	P18089	ADA2B_HUMAN	adrenoceptor alpha 2B	141					activation of MAPK activity by adrenergic receptor signaling pathway (GO:0071883)|activation of protein kinase B activity (GO:0032148)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cell-cell signaling (GO:0007267)|epidermal growth factor-activated receptor transactivation by G-protein coupled receptor signaling pathway (GO:0035625)|female pregnancy (GO:0007565)|G-protein coupled receptor signaling pathway (GO:0007186)|MAPK cascade (GO:0000165)|negative regulation of epinephrine secretion (GO:0032811)|negative regulation of norepinephrine secretion (GO:0010700)|platelet activation (GO:0030168)|positive regulation of blood pressure (GO:0045777)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of uterine smooth muscle contraction (GO:0070474)|regulation of vascular smooth muscle contraction (GO:0003056)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	alpha2-adrenergic receptor activity (GO:0004938)|epinephrine binding (GO:0051379)			endometrium(2)|large_intestine(2)|lung(9)|ovary(3)	16					Amoxapine(DB00543)|Amphetamine(DB00182)|Apomorphine(DB00714)|Apraclonidine(DB00964)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bethanidine(DB00217)|Brimonidine(DB00484)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Clonidine(DB00575)|Clozapine(DB00363)|Desipramine(DB01151)|Doxepin(DB01142)|Dronedarone(DB04855)|Droxidopa(DB06262)|Ephedra(DB01363)|Epinephrine(DB00668)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Etomidate(DB00292)|Fenoldopam(DB00800)|Guanabenz(DB00629)|Guanfacine(DB01018)|Lisuride(DB00589)|Loxapine(DB00408)|Maprotiline(DB00934)|Mephentermine(DB01365)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxymetazoline(DB00935)|Paliperidone(DB01267)|Pergolide(DB01186)|Phenoxybenzamine(DB00925)|Pramipexole(DB00413)|Prazosin(DB00457)|Quetiapine(DB01224)|Risperidone(DB00734)|Ropinirole(DB00268)|Rotigotine(DB05271)|Tizanidine(DB00697)|Tolazoline(DB00797)|Trimipramine(DB00726)|Xylometazoline(DB06694)|Yohimbine(DB01392)|Ziprasidone(DB00246)	GAGATGACGGCGGCGATGAGC	0.682																																						ENST00000409345.3																			0				endometrium(2)|large_intestine(2)|lung(9)|ovary(3)	16						c.(421-423)Gcc>Acc		adrenoceptor alpha 2B	Bethanidine(DB00217)|Brimonidine(DB00484)|Debrisoquin(DB04840)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Lofexidine(DB04948)|Norepinephrine(DB00368)|Yohimbine(DB01392)						28	35	33					2																	96781468		2195	4291	6486	SO:0001583	missense	151				activation of MAPK activity by adrenergic receptor signaling pathway|activation of protein kinase B activity|blood coagulation|cell-cell signaling|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|negative regulation of epinephrine secretion|negative regulation of norepinephrine secretion|positive regulation of neuron differentiation	integral to plasma membrane	alpha2-adrenergic receptor activity|epinephrine binding|protein binding	g.chr2:96781468C>T	M34041	CCDS56129.1	2q11.1	2014-05-06	2012-05-09		ENSG00000222040	ENSG00000274286		"GPCR / Class A : Adrenoceptors : alpha"	282	protein-coding gene	gene with protein product		104260	"adrenergic, alpha-2B-, receptor"	ADRA2L1, ADRA2RL1		2164221	Standard	NM_000682		Approved	ADRARL1	uc021vlh.1	P18089	OTTHUMG00000188276	ENST00000409345.3:c.421G>A	2.37:g.96781468C>T	ENSP00000387281:p.Ala141Thr						p.A141T	NM_000682.5	NP_000673.2	P18089	ADA2B_HUMAN			1	516	-			141					Q4TUH9|Q53RF2|Q9BZK0	Missense_Mutation	SNP	ENST00000409345.3	37	c.421G>A	CCDS56129.1	.	.	.	.	.	.	.	.	.	.	C	18.48	3.633613	0.67015	.	.	ENSG00000222040	ENST00000409345	T	0.37584	1.19	4.65	4.65	0.58169	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.64670	0.2619	M	0.86502	2.82	0.51767	D	0.999931	D	0.89917	1.0	D	0.75484	0.986	T	0.72047	-0.4408	9	0.87932	D	0	.	15.137	0.72576	0.0:1.0:0.0:0.0	.	141	P18089	ADA2B_HUMAN	T	141	ENSP00000387281:A141T	ENSP00000387281:A141T	A	-	1	0	ADRA2B	96145195	1.000000	0.71417	0.245000	0.24217	0.564000	0.35744	4.621000	0.61233	2.420000	0.82092	0.456000	0.33151	GCC		0.682	ADRA2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334990.1			8	14	0	0	0	1	0	8	14					T	96781468	C	T	96781468	3	4	435	1	0	0	0	0	1	0	0	0	338	768	27	1	926	1	ADRA2B	2	96781468	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	91166	96781468	146417905	1175	22100											
ASTL	431705	broad.mit.edu	37	chr2	96789953	96789953	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgacagtgcctccaaaagcCgctgcagagatagggaggcc	11	4	13	13	2	0	1	0	0	0	1	1	4	1	2	5	2	3	2	5	2	3	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:96789953C>T	ENST00000342380.2	-	9	931	c.932G>A	c.(931-933)cGg>cAg	p.R311Q		NM_001002036.3	NP_001002036.3			astacin-like metallo-endopeptidase (M12 family)											endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|prostate(1)|skin(2)	30						CTCCAAAAGCCGCTGCAGAGA	0.642																																						ENST00000342380.2																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|prostate(1)|skin(2)	30						c.(931-933)cGg>cAg		astacin-like metallo-endopeptidase (M12 family)							13	17	16					2																	96789953		2178	4261	6439	SO:0001583	missense	431705				proteolysis		metalloendopeptidase activity|zinc ion binding	g.chr2:96789953C>T	AJ537600	CCDS33249.1	2q11.1	2014-07-23	2006-10-10		ENSG00000188886	ENSG00000188886	3.4.24.21		31704	protein-coding gene	gene with protein product	"sperm acrosomal SLLP1 binding"	608860	"astacin-like metalloendopeptidase (M12 family)"			15087446	Standard	NM_001002036		Approved	ovastacin, SAS1B	uc010yui.2	Q6HA08	OTTHUMG00000155212	ENST00000342380.2:c.932G>A	2.37:g.96789953C>T	ENSP00000343674:p.Arg311Gln						p.R311Q	NM_001002036.3	NP_001002036.3	Q6HA08	ASTL_HUMAN			9	931	-			311						Missense_Mutation	SNP	ENST00000342380.2	37	c.932G>A	CCDS33249.1	.	.	.	.	.	.	.	.	.	.	C	8.595	0.885428	0.17540	.	.	ENSG00000188886	ENST00000342380	T	0.66099	-0.19	4.74	-5.73	0.02398	.	1.580230	0.04502	N	0.381465	T	0.37265	0.0997	N	0.11201	0.11	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.17440	-1.0369	10	0.23302	T	0.38	-4.9421	7.6319	0.28245	0.0:0.3444:0.1159:0.5397	.	311	Q6HA08	ASTL_HUMAN	Q	311	ENSP00000343674:R311Q	ENSP00000343674:R311Q	R	-	2	0	ASTL	96153680	0.000000	0.05858	0.004000	0.12327	0.020000	0.10135	-0.824000	0.04438	-1.138000	0.02884	-1.914000	0.00519	CGG		0.642	ASTL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338801.1			8	20	0	0	0	1	0	8	20					T	96789953	C	T	96789953	3	4	435	1	0	0	0	0	1	0	0	0	1063	652	23	2	366	2	ASTL	2	96789953	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	8485	96789953	146409420	1176	22101											
SNRNP200	23020	broad.mit.edu	37	chr2	96964107	96964107	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cttccatctttcccataatcCtttccttttcagcttcactt	6	19	1	15	0	3	0	2	0	1	0	7	0	7	0	4	0	1	1	4	0	1	8			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:96964107C>A	ENST00000323853.5	-	9	1111	c.1034G>T	c.(1033-1035)aGg>aTg	p.R345M	SNRNP200_ENST00000349783.5_Missense_Mutation_p.R345M	NM_014014.4	NP_054733.2	O75643	U520_HUMAN	small nuclear ribonucleoprotein 200kDa (U5)	345					ATP catabolic process (GO:0006200)|cis assembly of pre-catalytic spliceosome (GO:0000354)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|osteoblast differentiation (GO:0001649)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U5 snRNP (GO:0005682)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|ATP-dependent RNA helicase activity (GO:0004004)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|lung(37)|ovary(7)|prostate(4)|skin(5)|stomach(1)|urinary_tract(1)	90						TCCCATAATCCTTTCCTTTTC	0.463																																						ENST00000323853.5																			0				breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|lung(37)|ovary(7)|prostate(4)|skin(5)|stomach(1)|urinary_tract(1)	90						c.(1033-1035)aGg>aTg		small nuclear ribonucleoprotein 200kDa (U5)																																				SO:0001583	missense	23020					catalytic step 2 spliceosome|nucleoplasm|U5 snRNP	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding	g.chr2:96964107C>A	AL831994	CCDS2020.1	2q11.2	2013-05-13	2008-10-29	2008-10-29	ENSG00000144028	ENSG00000144028			30859	protein-coding gene	gene with protein product	"U5 snRNP specific protein, 200 KD"	601664	"activating signal cointegrator 1 complex subunit 3-like 1", "retinitis pigmentosa 33 (autosomal dominant)"	ASCC3L1, RP33		9872452, 8670905, 9774689, 9539711, 16612614, 19878916	Standard	NM_014014		Approved	U5-200KD, HELIC2, KIAA0788, BRR2	uc002svu.3	O75643	OTTHUMG00000130455	ENST00000323853.5:c.1034G>T	2.37:g.96964107C>A	ENSP00000317123:p.Arg345Met					SNRNP200_ENST00000349783.5_Missense_Mutation_p.R345M	p.R345M	NM_014014.4	NP_054733.2	O75643	U520_HUMAN			9	1111	-			345					O94884|Q6NZY0|Q6PX59|Q8NBE6|Q96IF2|Q9H7S0	Missense_Mutation	SNP	ENST00000323853.5	37	c.1034G>T	CCDS2020.1	.	.	.	.	.	.	.	.	.	.	C	14.55	2.568122	0.45798	.	.	ENSG00000144028	ENST00000323853;ENST00000349783;ENST00000540328	T;T	0.68479	-0.33;1.49	5.77	4.89	0.63831	.	0.088205	0.85682	N	0.000000	T	0.56645	0.1999	L	0.31065	0.9	0.47374	D	0.999408	B	0.18968	0.032	B	0.20184	0.028	T	0.53099	-0.8486	10	0.45353	T	0.12	-12.0805	15.1048	0.72312	0.1431:0.8569:0.0:0.0	.	345	O75643	U520_HUMAN	M	345;345;20	ENSP00000317123:R345M;ENSP00000326937:R345M	ENSP00000317123:R345M	R	-	2	0	SNRNP200	96327834	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.362000	0.59467	1.427000	0.47276	0.555000	0.69702	AGG		0.463	SNRNP200-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252846.2	NM_014014		11	50	1	0	1.58986e-06	1	1.65464e-06	11	50					A	96964107	C	A	96964107	3	1	435	1	0	0	0	0	1	0	0	0	14852	681	24	5	5524	5	SNRNP200	2	96964107	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	174154	96964107	146235266	1177	22102											
ITPRIPL1	150771	broad.mit.edu	37	chr2	96993213	96993213	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgagaaactcctaggggacGtgctgtgcctggtgcaccac	8	8	14	11	1	0	1	0	1	0	1	1	3	1	2	3	3	4	2	3	3	2	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:96993213G>A	ENST00000439118.2	+	3	1095	c.844G>A	c.(844-846)Gtg>Atg	p.V282M	ITPRIPL1_ENST00000542887.1_Missense_Mutation_p.V274M|ITPRIPL1_ENST00000536814.1_Missense_Mutation_p.V274M|ITPRIPL1_ENST00000361124.4_Missense_Mutation_p.V290M	NM_001008949.2	NP_001008949.1	Q6GPH6	IPIL1_HUMAN	inositol 1,4,5-trisphosphate receptor interacting protein-like 1	282						integral component of membrane (GO:0016021)|membrane (GO:0016020)		p.V290M(1)		breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						CCTAGGGGACGTGCTGTGCCT	0.612																																						ENST00000361124.4																			1	Substitution - Missense(1)	p.V290M(1)	lung(1)	breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(868-870)Gtg>Atg		inositol 1,4,5-trisphosphate receptor interacting protein-like 1							66	62	63					2																	96993213		2203	4300	6503	SO:0001583	missense	150771					integral to membrane		g.chr2:96993213G>A		CCDS33250.1, CCDS46360.1, CCDS54378.1	2q11.2	2011-04-28	2011-04-28	2008-08-11	ENSG00000198885	ENSG00000198885			29371	protein-coding gene	gene with protein product			"KIAA1754-like", "inositol 1,4,5-triphosphate receptor interacting protein-like 1"	KIAA1754L		12477932	Standard	NM_178495		Approved		uc010yul.2	Q6GPH6	OTTHUMG00000155230	ENST00000439118.2:c.844G>A	2.37:g.96993213G>A	ENSP00000389308:p.Val282Met					ITPRIPL1_ENST00000536814.1_Missense_Mutation_p.V274M|ITPRIPL1_ENST00000542887.1_Missense_Mutation_p.V274M|ITPRIPL1_ENST00000439118.2_Missense_Mutation_p.V282M	p.V290M	NM_178495.5	NP_848590.3	Q6GPH6	IPIL1_HUMAN			1	1279	+			282					F5H1L8|Q8NE61	Missense_Mutation	SNP	ENST00000439118.2	37	c.868G>A	CCDS46360.1	.	.	.	.	.	.	.	.	.	.	G	5.855	0.341930	0.11069	.	.	ENSG00000198885	ENST00000536814;ENST00000439118;ENST00000361124;ENST00000542887	T;T;T;T	0.18502	2.22;2.22;2.21;2.22	5.24	5.24	0.73138	.	0.000000	0.44285	D	0.000480	T	0.11879	0.0289	N	0.08118	0	0.34180	D	0.670804	D;D	0.61697	0.99;0.983	P;P	0.53809	0.735;0.548	T	0.03555	-1.1025	10	0.02654	T	1	-15.4045	11.2036	0.48756	0.0841:0.0:0.9159:0.0	.	290;282	Q6GPH6-2;Q6GPH6	.;IPIL1_HUMAN	M	274;282;290;274	ENSP00000439566:V274M;ENSP00000389308:V282M;ENSP00000355121:V290M;ENSP00000438212:V274M	ENSP00000355121:V290M	V	+	1	0	ITPRIPL1	96356940	0.998000	0.40836	0.974000	0.42286	0.948000	0.59901	2.985000	0.49362	2.706000	0.92434	0.655000	0.94253	GTG		0.612	ITPRIPL1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000338896.1	NM_178495		7	13	0	0	0	1	0	7	13					A	96993213	G	A	96993213	3	1	435	1	0	0	0	0	1	0	0	0	7924	1145	40	1	884	1	ITPRIPL1	2	96993213	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	29106	96993213	146206160	1178	22103											
ARID5A	10865	broad.mit.edu	37	chr2	97216922	97216922	+	Missense_Mutation	SNP	G	G	T																															aggaacagcacagaacagcaGggcctggcctctgggtcttc																										TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:97216922G>T	ENST00000357485.3	+	7	735	c.657G>T	c.(655-657)caG>caT	p.Q219H	ARID5A_ENST00000454558.2_Missense_Mutation_p.Q151H	NM_212481.1	NP_997646.1	Q03989	ARI5A_HUMAN	AT rich interactive domain 5A (MRF1-like)	219					chondrocyte differentiation (GO:0002062)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of histone acetylation (GO:0035066)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|skin(1)|urinary_tract(2)	14						CAGAACAGCAGGGCCTGGCCT	0.592																																						ENST00000454558.2																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|skin(1)|urinary_tract(2)	14						c.(451-453)caG>caT		AT rich interactive domain 5A (MRF1-like)							59	66	64					2																	97216922		2203	4300	6503	SO:0001583	missense	10865				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding	g.chr2:97216922G>T	M62324	CCDS33251.1	2p11.1	2013-02-07			ENSG00000196843	ENSG00000196843		"-"	17361	protein-coding gene	gene with protein product	"modulator recognition factor 1"	611583				8649988	Standard	NM_212481		Approved	MRF-1, RP11-363D14	uc002swe.3	Q03989	OTTHUMG00000155229	ENST00000357485.3:c.657G>T	2.37:g.97216922G>T	ENSP00000350078:p.Gln219His					ARID5A_ENST00000357485.3_Missense_Mutation_p.Q219H	p.Q151H			Q03989	ARI5A_HUMAN			7	1630	+			219					Q6NX37	Missense_Mutation	SNP	ENST00000357485.3	37	c.453G>T	CCDS33251.1	.	.	.	.	.	.	.	.	.	.	G	11.56	1.675939	0.29783	.	.	ENSG00000196843	ENST00000357485;ENST00000359765;ENST00000454558	T	0.64260	-0.09	4.63	-7.52	0.01341	.	0.544000	0.13830	N	0.359795	T	0.24198	0.0586	N	0.08118	0	0.09310	N	1	P;P;P	0.48640	0.913;0.511;0.511	B;B;B	0.37601	0.254;0.135;0.135	T	0.50550	-0.8815	10	0.13470	T	0.59	-0.0151	3.9528	0.09377	0.3224:0.1034:0.4706:0.1036	.	219;151;219	A6NM59;C9J1Q0;Q03989	.;.;ARI5A_HUMAN	H	219;219;151	ENSP00000350078:Q219H	ENSP00000350078:Q219H	Q	+	3	2	ARID5A	96580649	0.000000	0.05858	0.000000	0.03702	0.014000	0.08584	-1.096000	0.03353	-1.275000	0.02417	-0.258000	0.10820	CAG		0.592	ARID5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338888.2	NM_212481		24	36	1	0	6.12954e-19	1	6.77144e-19	24	36					T	97216922	G	T	97216922	3	4	435	1	0	0	0	0	1	0	0	0	921	991	35	5	683	5	ARID5A	2	97216922	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	223709	97216922	145982451	1179	22104	111	2									
ARID5A	10865	broad.mit.edu	37	chr2	97216925	97216925	+	Silent	SNP	C	C	T																															aacagcacagaacagcagggCctggcctctgggtcttctgt																										TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:97216925C>T	ENST00000357485.3	+	7	738	c.660C>T	c.(658-660)ggC>ggT	p.G220G	ARID5A_ENST00000454558.2_Silent_p.G152G	NM_212481.1	NP_997646.1	Q03989	ARI5A_HUMAN	AT rich interactive domain 5A (MRF1-like)	220					chondrocyte differentiation (GO:0002062)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of histone acetylation (GO:0035066)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|skin(1)|urinary_tract(2)	14						AACAGCAGGGCCTGGCCTCTG	0.597																																						ENST00000454558.2																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|skin(1)|urinary_tract(2)	14						c.(454-456)ggC>ggT		AT rich interactive domain 5A (MRF1-like)							58	65	63					2																	97216925		2203	4300	6503	SO:0001819	synonymous_variant	10865				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding	g.chr2:97216925C>T	M62324	CCDS33251.1	2p11.1	2013-02-07			ENSG00000196843	ENSG00000196843		"-"	17361	protein-coding gene	gene with protein product	"modulator recognition factor 1"	611583				8649988	Standard	NM_212481		Approved	MRF-1, RP11-363D14	uc002swe.3	Q03989	OTTHUMG00000155229	ENST00000357485.3:c.660C>T	2.37:g.97216925C>T						ARID5A_ENST00000357485.3_Silent_p.G220G	p.G152G			Q03989	ARI5A_HUMAN			7	1633	+			220					Q6NX37	Silent	SNP	ENST00000357485.3	37	c.456C>T	CCDS33251.1																																																																																				0.597	ARID5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338888.2	NM_212481		17	37	0	0	0	1	0	17	37					T	97216925	C	T	97216925	2	4	435	1	0	0	0	0	0	0	0	1	921	726	26	3		3	ARID5A	2	97216925	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	3	97216925	145982448	1180	22105	111	2									
CNNM4	26504	broad.mit.edu	37	chr2	97427091	97427091	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccaaggacctggtcgtccagCagctggtcaacgtgagccgc	8	6	13	14	3	1	1	1	1	0	0	3	2	2	2	4	3	4	2	4	3	2	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:97427091C>T	ENST00000377075.2	+	1	453	c.355C>T	c.(355-357)Cag>Tag	p.Q119*		NM_020184.3	NP_064569.3	Q6P4Q7	CNNM4_HUMAN	cyclin and CBS domain divalent metal cation transport mediator 4	119					biomineral tissue development (GO:0031214)|ion transport (GO:0006811)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	adenyl nucleotide binding (GO:0030554)			breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)	20						GGTCGTCCAGCAGCTGGTCAA	0.617																																						ENST00000377075.2																			0				breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)	20						c.(355-357)Cag>Tag		cyclin M4							53	49	51					2																	97427091		2203	4300	6503	SO:0001587	stop_gained	26504				biomineral tissue development|ion transport|response to stimulus|visual perception	integral to membrane|plasma membrane		g.chr2:97427091C>T	AB046812	CCDS2024.2	2q11.2	2014-08-08	2014-08-07		ENSG00000158158	ENSG00000158158			105	protein-coding gene	gene with protein product		607805	"cyclin M4"	ACDP4		21393841, 24194943	Standard	XM_005263914		Approved	KIAA1592	uc002swx.3	Q6P4Q7	OTTHUMG00000130532	ENST00000377075.2:c.355C>T	2.37:g.97427091C>T	ENSP00000366275:p.Gln119*						p.Q119*	NM_020184.3	NP_064569.3	Q6P4Q7	CNNM4_HUMAN			1	453	+			119					B7Z1U0|C7SQM3|C7SQM4|C7SQM5|Q53RE5|Q9H9G3|Q9HCI0|Q9NRN1	Nonsense_Mutation	SNP	ENST00000377075.2	37	c.355C>T	CCDS2024.2	.	.	.	.	.	.	.	.	.	.	c	31	5.067297	0.93898	.	.	ENSG00000158158	ENST00000377075	.	.	.	4.72	1.56	0.23342	.	1.207980	0.05977	U	0.643450	.	.	.	.	.	.	0.40705	D	0.982511	.	.	.	.	.	.	.	.	.	.	0.07990	T	0.79	-23.4479	12.7379	0.57236	0.4826:0.5174:0.0:0.0	.	.	.	.	X	119	.	ENSP00000366275:Q119X	Q	+	1	0	CNNM4	96790818	0.003000	0.15002	0.996000	0.52242	0.884000	0.51177	0.075000	0.14686	0.338000	0.23692	0.550000	0.68814	CAG		0.617	CNNM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252954.1	NM_020184		10	15	0	0	0	1	0	10	15					T	97427091	C	T	97427091	4	4	435	1	0	0	0	0	0	1	0	0	3615	711	25	3	357	3	CNNM4	2	97427091	Nonsense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	210166	97427091	145772282	1181	22106											
CNNM4	26504	broad.mit.edu	37	chr2	97463370	97463370	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gctcctcctggccgctcatcGcttcctagccacaggtagca	6	9	9	17	2	1	0	1	0	0	0	5	0	4	0	5	2	2	5	5	2	2	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:97463370G>A	ENST00000377075.2	+	3	1765	c.1667G>A	c.(1666-1668)cGc>cAc	p.R556H	MIR3127_ENST00000583925.1_RNA|CNNM4_ENST00000540067.1_Missense_Mutation_p.R43H|CNNM4_ENST00000496186.1_3'UTR	NM_020184.3	NP_064569.3	Q6P4Q7	CNNM4_HUMAN	cyclin and CBS domain divalent metal cation transport mediator 4	556					biomineral tissue development (GO:0031214)|ion transport (GO:0006811)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	adenyl nucleotide binding (GO:0030554)			breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)	20						GCCGCTCATCGCTTCCTAGCC	0.572																																						ENST00000377075.2																			0				breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)	20						c.(1666-1668)cGc>cAc		cyclin M4							43	39	40					2																	97463370		2203	4300	6503	SO:0001583	missense	26504				biomineral tissue development|ion transport|response to stimulus|visual perception	integral to membrane|plasma membrane		g.chr2:97463370G>A	AB046812	CCDS2024.2	2q11.2	2014-08-08	2014-08-07		ENSG00000158158	ENSG00000158158			105	protein-coding gene	gene with protein product		607805	"cyclin M4"	ACDP4		21393841, 24194943	Standard	XM_005263914		Approved	KIAA1592	uc002swx.3	Q6P4Q7	OTTHUMG00000130532	ENST00000377075.2:c.1667G>A	2.37:g.97463370G>A	ENSP00000366275:p.Arg556His					CNNM4_ENST00000540067.1_Missense_Mutation_p.R43H|CNNM4_ENST00000496186.1_3'UTR	p.R556H	NM_020184.3	NP_064569.3	Q6P4Q7	CNNM4_HUMAN			3	1765	+			556					B7Z1U0|C7SQM3|C7SQM4|C7SQM5|Q53RE5|Q9H9G3|Q9HCI0|Q9NRN1	Missense_Mutation	SNP	ENST00000377075.2	37	c.1667G>A	CCDS2024.2	.	.	.	.	.	.	.	.	.	.	G	17.75	3.466457	0.63625	.	.	ENSG00000158158	ENST00000377075;ENST00000540067	T	0.76060	-0.99	5.25	4.34	0.51931	.	0.000000	0.85682	D	0.000000	D	0.86188	0.5873	M	0.80183	2.485	0.54753	D	0.999989	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	D	0.88238	0.2908	10	0.87932	D	0	-0.9863	14.688	0.69062	0.0:0.1466:0.8533:0.0	.	43;556	B7Z1U0;Q6P4Q7	.;CNNM4_HUMAN	H	556;43	ENSP00000366275:R556H	ENSP00000366275:R556H	R	+	2	0	CNNM4	96827097	1.000000	0.71417	1.000000	0.80357	0.025000	0.11179	9.758000	0.98927	1.274000	0.44362	0.655000	0.94253	CGC		0.572	CNNM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252954.1	NM_020184		9	18	0	0	0	1	0	9	18					A	97463370	G	A	97463370	3	1	435	1	0	0	0	0	1	0	0	0	3615	1087	38	1	1677	1	CNNM4	2	97463370	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	36279	97463370	145736003	1182	22107											
CNNM3	26505	broad.mit.edu	37	chr2	97493559	97493559	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaccaggaagtgaggtttgaCgagagcaaccggctggccac	12	5	14	10	2	0	3	0	2	0	1	0	5	0	4	3	4	3	3	3	4	3	1	rs559375951	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:97493559C>T	ENST00000305510.3	+	4	1639	c.1611C>T	c.(1609-1611)gaC>gaT	p.D537D	ANKRD23_ENST00000476975.1_Intron|CNNM3_ENST00000377060.3_Silent_p.D489D	NM_017623.4	NP_060093.3	Q8NE01	CNNM3_HUMAN	cyclin and CBS domain divalent metal cation transport mediator 3	537					ion transport (GO:0006811)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenyl nucleotide binding (GO:0030554)			NS(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(2)|skin(1)|urinary_tract(2)	13						TGAGGTTTGACGAGAGCAACC	0.577													C|||	7	0.00139776	0	0	5008	,	,		20337	0		0	False		,,,				2504	0.0072					ENST00000305510.3																			0				NS(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(2)|skin(1)|urinary_tract(2)	13						c.(1609-1611)gaC>gaT		cyclin M3							112	101	105					2																	97493559		2203	4300	6503	SO:0001819	synonymous_variant	26505				ion transport	integral to membrane|plasma membrane	protein binding	g.chr2:97493559C>T	AF216965	CCDS2025.1, CCDS2026.1	2q11.2	2014-08-08	2014-08-07		ENSG00000168763	ENSG00000168763			104	protein-coding gene	gene with protein product		607804	"cyclin M3"	ACDP3		21393841, 24632616	Standard	XM_005263917		Approved		uc002swy.3	Q8NE01	OTTHUMG00000130531	ENST00000305510.3:c.1611C>T	2.37:g.97493559C>T						ANKRD23_ENST00000476975.1_Intron|CNNM3_ENST00000377060.3_Silent_p.D489D	p.D537D	NM_017623.4	NP_060093.3	Q8NE01	CNNM3_HUMAN			4	1639	+			537					B3KX67|Q8TBV4|Q96IW4|Q9NRK4|Q9NXW6	Silent	SNP	ENST00000305510.3	37	c.1611C>T	CCDS2025.1																																																																																				0.577	CNNM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252952.2	NM_017623		23	26	0	0	0	1	0	23	26					T	97493559	C	T	97493559	2	4	435	1	0	0	0	0	0	0	0	1	3614	535	19	1		1	CNNM3	2	97493559	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	30189	97493559	145705814	1183	22108											
ANKRD23	200539	broad.mit.edu	37	chr2	97506646	97506646	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccacctgggcctgggactGcggctggttcagttgaagac	6	9	14	12	1	1	2	1	1	0	1	2	3	2	3	3	4	1	3	3	4	1	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:97506646G>A	ENST00000318357.4	-	4	345	c.304C>T	c.(304-306)Cag>Tag	p.Q102*	ANKRD23_ENST00000476975.1_5'UTR|ANKRD23_ENST00000331001.2_Intron|ANKRD23_ENST00000418232.1_Nonsense_Mutation_p.Q102*	NM_144994.7	NP_659431.5	Q86SG2	ANR23_HUMAN	ankyrin repeat domain 23	102					fatty acid metabolic process (GO:0006631)|response to mechanical stimulus (GO:0009612)	I band (GO:0031674)|intercalated disc (GO:0014704)|nucleus (GO:0005634)	titin binding (GO:0031432)			endometrium(2)|kidney(1)|lung(4)|ovary(1)|prostate(1)	9						GCCTGGGACTGCGGCTGGTTC	0.592																																						ENST00000318357.4																			0				endometrium(2)|kidney(1)|lung(4)|ovary(1)|prostate(1)	9						c.(304-306)Cag>Tag		ankyrin repeat domain 23							66	62	63					2																	97506646		2203	4300	6503	SO:0001587	stop_gained	200539					nucleus		g.chr2:97506646G>A		CCDS2027.1	2q11.2	2013-01-10			ENSG00000163126	ENSG00000163126		"Ankyrin repeat domain containing"	24470	protein-coding gene	gene with protein product	"diabetes related ankyrin repeat protein"	610736				12456686	Standard	NM_144994		Approved	DARP, FLJ32449, MARP3	uc002sxa.3	Q86SG2	OTTHUMG00000130534	ENST00000318357.4:c.304C>T	2.37:g.97506646G>A	ENSP00000321679:p.Gln102*					ANKRD23_ENST00000418232.1_Nonsense_Mutation_p.Q102*|ANKRD23_ENST00000476975.1_5'UTR|ANKRD23_ENST00000331001.2_Intron	p.Q102*	NM_144994.7	NP_659431.5	Q86SG2	ANR23_HUMAN			4	345	-			102					Q711K7|Q8NAJ7	Nonsense_Mutation	SNP	ENST00000318357.4	37	c.304C>T	CCDS2027.1	.	.	.	.	.	.	.	.	.	.	G	15.96	2.986258	0.53934	.	.	ENSG00000163126	ENST00000318357;ENST00000418232	.	.	.	5.36	5.36	0.76844	.	0.000000	0.35525	U	0.003147	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.31617	T	0.26	-23.9286	14.569	0.68200	0.0:0.0:1.0:0.0	.	.	.	.	X	102	.	ENSP00000321679:Q102X	Q	-	1	0	ANKRD23	96870373	0.973000	0.33851	0.937000	0.37676	0.245000	0.25701	3.423000	0.52756	2.509000	0.84616	0.561000	0.74099	CAG		0.592	ANKRD23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252956.1	NM_144994		14	23	0	0	0	1	0	14	23					A	97506646	G	A	97506646	4	1	435	1	0	0	0	0	0	1	0	0	652	1328	46	3	637	3	ANKRD23	2	97506646	Nonsense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	13087	97506646	145692727	1184	22109											
ANKRD36	375248	broad.mit.edu	37	chr2	97877447	97877447	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tctgttccgaatatggccacGgaaaaaaaggatgaacaaat	17	8	9	7	2	1	1	0	1	1	0	2	4	2	3	2	3	1	1	2	3	7	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:97877447G>A	ENST00000461153.2	+	58	3682	c.3438G>A	c.(3436-3438)acG>acA	p.T1146T	ANKRD36_ENST00000420699.2_Silent_p.T1146T			A6QL64	AN36A_HUMAN	ankyrin repeat domain 36	1146										endometrium(9)|kidney(5)|liver(1)|lung(3)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23						ATATGGCCACGGAAAAAAAGG	0.333																																						ENST00000420699.2																			0				endometrium(9)|kidney(5)|liver(1)|lung(3)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23						c.(3436-3438)acG>acA		ankyrin repeat domain 36							140	133	135					2																	97877447		692	1591	2283	SO:0001819	synonymous_variant	375248							g.chr2:97877447G>A	BC046186	CCDS54379.1	2q11.2	2013-09-24			ENSG00000135976	ENSG00000135976		"Ankyrin repeat domain containing"	24079	protein-coding gene	gene with protein product						12975309	Standard	NM_001164315		Approved	UNQ2430	uc010yva.2	A6QL64	OTTHUMG00000155256	ENST00000461153.2:c.3438G>A	2.37:g.97877447G>A						ANKRD36_ENST00000461153.2_Silent_p.T1146T	p.T1146T	NM_001164315.1	NP_001157787.1	A6QL64	AN36A_HUMAN			58	3682	+			1146					B4E3I8|Q6UX02|Q86X62|Q9HCD1	Silent	SNP	ENST00000461153.2	37	c.3438G>A	CCDS54379.1																																																																																				0.333	ANKRD36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339154.5			4	5	0	0	0	1	0	4	5					A	97877447	G	A	97877447	2	1	435	1	0	0	0	0	0	0	0	1	665	1103	39	2		2	ANKRD36	2	97877447	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	370801	97877447	145321926	1185	22110											
COX5B	1329	broad.mit.edu	37	chr2	98264505	98264505	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggttttggctgcacaaaggCgaggcccagcgatgcccccg	7	7	14	13	3	0	0	0	0	0	0	0	2	0	0	3	4	3	3	3	4	1	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:98264505C>T	ENST00000258424.2	+	4	371	c.324C>T	c.(322-324)ggC>ggT	p.G108G	COX5B_ENST00000464949.1_3'UTR	NM_001862.2	NP_001853.2	P10606	COX5B_HUMAN	cytochrome c oxidase subunit Vb	108					cellular metabolic process (GO:0044237)|hydrogen ion transmembrane transport (GO:1902600)|respiratory electron transport chain (GO:0022904)|respiratory gaseous exchange (GO:0007585)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	cytochrome-c oxidase activity (GO:0004129)|metal ion binding (GO:0046872)			endometrium(1)|lung(1)|urinary_tract(1)	3						TGCACAAAGGCGAGGCCCAGC	0.517																																						ENST00000258424.2																			0				endometrium(1)|lung(1)|urinary_tract(1)	3						c.(322-324)ggC>ggT		cytochrome c oxidase subunit Vb							58	56	57					2																	98264505		2203	4300	6503	SO:0001819	synonymous_variant	1329				respiratory electron transport chain|respiratory gaseous exchange	mitochondrial inner membrane	cytochrome-c oxidase activity|metal ion binding	g.chr2:98264505C>T	BC006229	CCDS2032.1	2q11.2	2011-07-04			ENSG00000135940	ENSG00000135940	1.9.3.1	"Mitochondrial respiratory chain complex / Complex IV"	2269	protein-coding gene	gene with protein product		123866					Standard	NM_001862		Approved		uc002sya.3	P10606	OTTHUMG00000130548	ENST00000258424.2:c.324C>T	2.37:g.98264505C>T						COX5B_ENST00000464949.1_3'UTR	p.G108G	NM_001862.2	NP_001853.2	P10606	COX5B_HUMAN			4	371	+			108					Q53YB7|Q96J18|Q99610	Silent	SNP	ENST00000258424.2	37	c.324C>T	CCDS2032.1																																																																																				0.517	COX5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252972.2	NM_001862		4	13	0	0	0	1	0	4	13					T	98264505	C	T	98264505	2	4	435	1	0	0	0	0	0	0	0	1	3773	755	27	1		1	COX5B	2	98264505	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	387058	98264505	144934868	1186	22111											
ACTR1B	10120	broad.mit.edu	37	chr2	98275897	98275897	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cgttccagtctcgcaccacgCcgtgctccatggggtagcgg	5	8	13	15	5	1	0	0	0	1	0	4	0	3	0	4	3	2	4	4	3	1	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:98275897C>T	ENST00000289228.5	-	4	449	c.233G>A	c.(232-234)gGc>gAc	p.G78D		NM_005735.3	NP_005726.1	P42025	ACTY_HUMAN	ARP1 actin-related protein 1 homolog B, centractin beta (yeast)	78					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dynactin complex (GO:0005869)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	ATP binding (GO:0005524)			endometrium(1)|large_intestine(5)|lung(7)|ovary(1)|skin(1)	15						TCGCACCACGCCGTGCTCCAT	0.657																																						ENST00000289228.5																			0				endometrium(1)|large_intestine(5)|lung(7)|ovary(1)|skin(1)	15						c.(232-234)gGc>gAc		ARP1 actin-related protein 1 homolog B, centractin beta (yeast)							213	190	198					2																	98275897		2203	4300	6503	SO:0001583	missense	10120					centrosome|dynactin complex	ATP binding|protein binding	g.chr2:98275897C>T	X82207	CCDS2033.1	2q11.1-q11.2	2008-05-20	2001-11-28		ENSG00000115073	ENSG00000115073			168	protein-coding gene	gene with protein product		605144	"ARP1 (actin-related protein 1, yeast) homolog B (centractin beta)"	CTRN2		7696711, 10343100	Standard	NM_005735		Approved		uc002syb.2	P42025	OTTHUMG00000130549	ENST00000289228.5:c.233G>A	2.37:g.98275897C>T	ENSP00000289228:p.Gly78Asp						p.G78D	NM_005735.3	NP_005726.1	P42025	ACTY_HUMAN			4	449	-			78					D3DVH2|Q53SK5|Q9BRB7	Missense_Mutation	SNP	ENST00000289228.5	37	c.233G>A	CCDS2033.1	.	.	.	.	.	.	.	.	.	.	.	32	5.150540	0.94645	.	.	ENSG00000115073	ENST00000289228	D	0.97731	-4.51	5.18	5.18	0.71444	.	0.000000	0.85682	D	0.000000	D	0.99177	0.9715	H	0.96720	3.87	0.80722	D	1	D	0.69078	0.997	D	0.78314	0.991	D	0.99053	1.0828	10	0.87932	D	0	.	16.1821	0.81915	0.0:1.0:0.0:0.0	.	78	P42025	ACTY_HUMAN	D	78	ENSP00000289228:G78D	ENSP00000289228:G78D	G	-	2	0	ACTR1B	97642329	1.000000	0.71417	0.811000	0.32455	0.984000	0.73092	7.795000	0.85887	2.427000	0.82271	0.555000	0.69702	GGC		0.657	ACTR1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252973.1	NM_005735		7	142	0	0	0	1	0	7	142					T	98275897	C	T	98275897	3	4	435	1	0	0	0	0	1	0	0	0	210	739	26	3	929	3	ACTR1B	2	98275897	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	11392	98275897	144923476	1187	22112											
ZAP70	7535	broad.mit.edu	37	chr2	98340697	98340697	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cccatcgagcgccagctcaaCggcacctacgccattgccgg	8	5	10	18	5	1	0	1	0	0	0	2	1	1	0	5	2	5	2	5	2	2	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:98340697C>T	ENST00000264972.5	+	3	413	c.198C>T	c.(196-198)aaC>aaT	p.N66N	ZAP70_ENST00000442208.1_5'Flank	NM_001079.3	NP_001070.2	P43403	ZAP70_HUMAN	zeta-chain (TCR) associated protein kinase 70kDa	66	SH2 1. {ECO:0000255|PROSITE- ProRule:PRU00191}.				adaptive immune response (GO:0002250)|B cell activation (GO:0042113)|beta selection (GO:0043366)|immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|negative thymic T cell selection (GO:0045060)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of alpha-beta T cell proliferation (GO:0046641)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of T cell differentiation (GO:0045582)|positive thymic T cell selection (GO:0045059)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|T cell activation (GO:0042110)|T cell aggregation (GO:0070489)|T cell differentiation (GO:0030217)|T cell migration (GO:0072678)|T cell receptor signaling pathway (GO:0050852)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|immunological synapse (GO:0001772)|plasma membrane (GO:0005886)|T cell receptor complex (GO:0042101)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	29						GCCAGCTCAACGGCACCTACG	0.667																																						ENST00000264972.5																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	29						c.(196-198)aaC>aaT		zeta-chain (TCR) associated protein kinase 70kDa							18	16	17					2																	98340697		2195	4292	6487	SO:0001819	synonymous_variant	7535				immune response|intracellular protein kinase cascade|positive thymic T cell selection|T cell receptor signaling pathway	cytosol|T cell receptor complex	ATP binding|non-membrane spanning protein tyrosine kinase activity	g.chr2:98340697C>T	L05148	CCDS33254.1, CCDS33255.1	2q11-q13	2014-09-17	2002-08-29		ENSG00000115085	ENSG00000115085		"SH2 domain containing"	12858	protein-coding gene	gene with protein product		176947	"zeta-chain (TCR) associated protein kinase (70 kD)"	SRK		1423621	Standard	NM_001079		Approved	ZAP-70, STD	uc002syd.1	P43403	OTTHUMG00000153060	ENST00000264972.5:c.198C>T	2.37:g.98340697C>T							p.N66N	NM_001079.3	NP_001070.2	P43403	ZAP70_HUMAN			3	413	+			66			SH2 1.		A6NFP4|Q6PIA4|Q8IXD6|Q9UBS6	Silent	SNP	ENST00000264972.5	37	c.198C>T	CCDS33254.1																																																																																				0.667	ZAP70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329278.1			10	8	0	0	0	1	0	10	8					T	98340697	C	T	98340697	2	4	435	1	0	0	0	0	0	0	0	1	17511	535	19	1		1	ZAP70	2	98340697	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	64800	98340697	144858676	1188	22113											
ZAP70	7535	broad.mit.edu	37	chr2	98351166	98351166	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agtgcgccagggcgtgtaccGcatgcgcaagtatggccgcc	7	6	15	13	5	0	0	0	0	0	0	0	0	0	0	4	2	3	4	4	2	3	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:98351166G>A	ENST00000264972.5	+	9	1288	c.1073G>A	c.(1072-1074)cGc>cAc	p.R358H	ZAP70_ENST00000451498.2_Missense_Mutation_p.R51H|ZAP70_ENST00000442208.1_Missense_Mutation_p.R232H|ZAP70_ENST00000463643.1_3'UTR	NM_001079.3	NP_001070.2	P43403	ZAP70_HUMAN	zeta-chain (TCR) associated protein kinase 70kDa	358	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				adaptive immune response (GO:0002250)|B cell activation (GO:0042113)|beta selection (GO:0043366)|immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|negative thymic T cell selection (GO:0045060)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of alpha-beta T cell proliferation (GO:0046641)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of T cell differentiation (GO:0045582)|positive thymic T cell selection (GO:0045059)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|T cell activation (GO:0042110)|T cell aggregation (GO:0070489)|T cell differentiation (GO:0030217)|T cell migration (GO:0072678)|T cell receptor signaling pathway (GO:0050852)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|immunological synapse (GO:0001772)|plasma membrane (GO:0005886)|T cell receptor complex (GO:0042101)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	29						GGCGTGTACCGCATGCGCAAG	0.637																																						ENST00000264972.5																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	29						c.(1072-1074)cGc>cAc		zeta-chain (TCR) associated protein kinase 70kDa							98	83	88					2																	98351166		2203	4300	6503	SO:0001583	missense	7535				immune response|intracellular protein kinase cascade|positive thymic T cell selection|T cell receptor signaling pathway	cytosol|T cell receptor complex	ATP binding|non-membrane spanning protein tyrosine kinase activity	g.chr2:98351166G>A	L05148	CCDS33254.1, CCDS33255.1	2q11-q13	2014-09-17	2002-08-29		ENSG00000115085	ENSG00000115085		"SH2 domain containing"	12858	protein-coding gene	gene with protein product		176947	"zeta-chain (TCR) associated protein kinase (70 kD)"	SRK		1423621	Standard	NM_001079		Approved	ZAP-70, STD	uc002syd.1	P43403	OTTHUMG00000153060	ENST00000264972.5:c.1073G>A	2.37:g.98351166G>A	ENSP00000264972:p.Arg358His					ZAP70_ENST00000463643.1_3'UTR|ZAP70_ENST00000442208.1_Missense_Mutation_p.R232H|ZAP70_ENST00000451498.2_Missense_Mutation_p.R51H	p.R358H	NM_001079.3	NP_001070.2	P43403	ZAP70_HUMAN			9	1288	+			358			Protein kinase.		A6NFP4|Q6PIA4|Q8IXD6|Q9UBS6	Missense_Mutation	SNP	ENST00000264972.5	37	c.1073G>A	CCDS33254.1	.	.	.	.	.	.	.	.	.	.	G	26.7	4.765838	0.90020	.	.	ENSG00000115085	ENST00000264972;ENST00000442208;ENST00000451498	D;D;D	0.82984	-1.67;-1.67;-1.67	5.41	4.31	0.51392	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.224847	0.22732	N	0.056310	T	0.78298	0.4261	L	0.45285	1.41	0.41098	D	0.985648	D;P	0.56521	0.976;0.929	P;P	0.48141	0.541;0.568	T	0.79029	-0.1970	10	0.72032	D	0.01	.	5.6947	0.17849	0.2274:0.0:0.7726:0.0	.	232;358	P43403-3;P43403	.;ZAP70_HUMAN	H	358;232;51	ENSP00000264972:R358H;ENSP00000411141:R232H;ENSP00000400475:R51H	ENSP00000264972:R358H	R	+	2	0	ZAP70	97717598	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.765000	0.74965	2.723000	0.93209	0.655000	0.94253	CGC		0.637	ZAP70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329278.1			17	23	0	0	0	1	0	17	23					A	98351166	G	A	98351166	3	1	435	1	0	0	0	0	1	0	0	0	17511	1087	38	1	1099	1	ZAP70	2	98351166	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	10469	98351166	144848207	1189	22114											
ZAP70	7535	broad.mit.edu	37	chr2	98351716	98351716	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtggccgggtcgggcaggaaGcagatcgacgtggccatcaa	9	5	17	10	4	1	1	1	0	0	1	3	3	1	2	2	5	1	2	2	5	2	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:98351716G>T	ENST00000264972.5	+	10	1301	c.1086G>T	c.(1084-1086)aaG>aaT	p.K362N	ZAP70_ENST00000451498.2_Missense_Mutation_p.K55N|ZAP70_ENST00000442208.1_Missense_Mutation_p.K236N|ZAP70_ENST00000463643.1_3'UTR	NM_001079.3	NP_001070.2	P43403	ZAP70_HUMAN	zeta-chain (TCR) associated protein kinase 70kDa	362	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				adaptive immune response (GO:0002250)|B cell activation (GO:0042113)|beta selection (GO:0043366)|immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|negative thymic T cell selection (GO:0045060)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of alpha-beta T cell proliferation (GO:0046641)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of T cell differentiation (GO:0045582)|positive thymic T cell selection (GO:0045059)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|T cell activation (GO:0042110)|T cell aggregation (GO:0070489)|T cell differentiation (GO:0030217)|T cell migration (GO:0072678)|T cell receptor signaling pathway (GO:0050852)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|immunological synapse (GO:0001772)|plasma membrane (GO:0005886)|T cell receptor complex (GO:0042101)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	29						CGGGCAGGAAGCAGATCGACG	0.657																																						ENST00000264972.5																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	29						c.(1084-1086)aaG>aaT		zeta-chain (TCR) associated protein kinase 70kDa							92	72	79					2																	98351716		2203	4300	6503	SO:0001583	missense	7535				immune response|intracellular protein kinase cascade|positive thymic T cell selection|T cell receptor signaling pathway	cytosol|T cell receptor complex	ATP binding|non-membrane spanning protein tyrosine kinase activity	g.chr2:98351716G>T	L05148	CCDS33254.1, CCDS33255.1	2q11-q13	2014-09-17	2002-08-29		ENSG00000115085	ENSG00000115085		"SH2 domain containing"	12858	protein-coding gene	gene with protein product		176947	"zeta-chain (TCR) associated protein kinase (70 kD)"	SRK		1423621	Standard	NM_001079		Approved	ZAP-70, STD	uc002syd.1	P43403	OTTHUMG00000153060	ENST00000264972.5:c.1086G>T	2.37:g.98351716G>T	ENSP00000264972:p.Lys362Asn					ZAP70_ENST00000463643.1_3'UTR|ZAP70_ENST00000442208.1_Missense_Mutation_p.K236N|ZAP70_ENST00000451498.2_Missense_Mutation_p.K55N	p.K362N	NM_001079.3	NP_001070.2	P43403	ZAP70_HUMAN			10	1301	+			362			Protein kinase.		A6NFP4|Q6PIA4|Q8IXD6|Q9UBS6	Missense_Mutation	SNP	ENST00000264972.5	37	c.1086G>T	CCDS33254.1	.	.	.	.	.	.	.	.	.	.	G	12.26	1.885327	0.33255	.	.	ENSG00000115085	ENST00000264972;ENST00000442208;ENST00000451498	D;D;D	0.82893	-1.66;-1.66;-1.66	5.67	5.67	0.87782	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.52532	D	0.000068	T	0.71567	0.3355	N	0.22421	0.69	0.58432	D	0.999992	P;P	0.40602	0.71;0.723	B;B	0.38985	0.287;0.254	T	0.68689	-0.5342	10	0.19147	T	0.46	.	12.5706	0.56334	0.0:0.0:0.8339:0.1661	.	236;362	P43403-3;P43403	.;ZAP70_HUMAN	N	362;236;55	ENSP00000264972:K362N;ENSP00000411141:K236N;ENSP00000400475:K55N	ENSP00000264972:K362N	K	+	3	2	ZAP70	97718148	1.000000	0.71417	1.000000	0.80357	0.612000	0.37316	1.851000	0.39338	2.853000	0.98044	0.655000	0.94253	AAG		0.657	ZAP70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329278.1			9	35	1	0	1.12685e-05	1	1.16601e-05	9	35					T	98351716	G	T	98351716	3	4	435	1	0	0	0	0	1	0	0	0	17511	962	34	5	1116	5	ZAP70	2	98351716	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	550	98351716	144847657	1190	22115											
ZAP70	7535	broad.mit.edu	37	chr2	98354040	98354040	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcaccgtgacctggcggcccGcaacgtcctgctggttaacc	6	7	12	16	4	0	1	0	1	0	0	1	1	1	1	5	3	3	4	5	3	2	1	rs137853201		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:98354040G>A	ENST00000264972.5	+	11	1609	c.1394G>A	c.(1393-1395)cGc>cAc	p.R465H	ZAP70_ENST00000451498.2_Missense_Mutation_p.R158H|ZAP70_ENST00000442208.1_Missense_Mutation_p.R339H|ZAP70_ENST00000463643.1_3'UTR	NM_001079.3	NP_001070.2	P43403	ZAP70_HUMAN	zeta-chain (TCR) associated protein kinase 70kDa	465	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		R -> C (in STCD). {ECO:0000269|PubMed:11123350}.|R -> H (in STCD). {ECO:0000269|PubMed:11412303}.		adaptive immune response (GO:0002250)|B cell activation (GO:0042113)|beta selection (GO:0043366)|immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|negative thymic T cell selection (GO:0045060)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of alpha-beta T cell proliferation (GO:0046641)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of T cell differentiation (GO:0045582)|positive thymic T cell selection (GO:0045059)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|T cell activation (GO:0042110)|T cell aggregation (GO:0070489)|T cell differentiation (GO:0030217)|T cell migration (GO:0072678)|T cell receptor signaling pathway (GO:0050852)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|immunological synapse (GO:0001772)|plasma membrane (GO:0005886)|T cell receptor complex (GO:0042101)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	29						CTGGCGGCCCGCAACGTCCTG	0.587																																						ENST00000264972.5																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	29						c.(1393-1395)cGc>cAc		zeta-chain (TCR) associated protein kinase 70kDa							88	70	76					2																	98354040		2203	4300	6503	SO:0001583	missense	7535				immune response|intracellular protein kinase cascade|positive thymic T cell selection|T cell receptor signaling pathway	cytosol|T cell receptor complex	ATP binding|non-membrane spanning protein tyrosine kinase activity	g.chr2:98354040G>A	L05148	CCDS33254.1, CCDS33255.1	2q11-q13	2014-09-17	2002-08-29		ENSG00000115085	ENSG00000115085		"SH2 domain containing"	12858	protein-coding gene	gene with protein product		176947	"zeta-chain (TCR) associated protein kinase (70 kD)"	SRK		1423621	Standard	NM_001079		Approved	ZAP-70, STD	uc002syd.1	P43403	OTTHUMG00000153060	ENST00000264972.5:c.1394G>A	2.37:g.98354040G>A	ENSP00000264972:p.Arg465His					ZAP70_ENST00000463643.1_3'UTR|ZAP70_ENST00000442208.1_Missense_Mutation_p.R339H|ZAP70_ENST00000451498.2_Missense_Mutation_p.R158H	p.R465H	NM_001079.3	NP_001070.2	P43403	ZAP70_HUMAN			11	1609	+			465		R -> C (in STD).|R -> H (in STD).	Protein kinase.		A6NFP4|Q6PIA4|Q8IXD6|Q9UBS6	Missense_Mutation	SNP	ENST00000264972.5	37	c.1394G>A	CCDS33254.1	.	.	.	.	.	.	.	.	.	.	G	29.1	4.977876	0.92982	.	.	ENSG00000115085	ENST00000264972;ENST00000442208;ENST00000451498	D;D;D	0.87729	-2.29;-2.29;-2.29	5.2	5.2	0.72013	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.48286	D	0.000199	D	0.94417	0.8204	M	0.88775	2.98	0.80722	A	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.95181	0.8299	9	0.87932	D	0	.	16.6148	0.84904	0.0:0.0:1.0:0.0	.	339;465	P43403-3;P43403	.;ZAP70_HUMAN	H	465;339;158	ENSP00000264972:R465H;ENSP00000411141:R339H;ENSP00000400475:R158H	ENSP00000264972:R465H	R	+	2	0	ZAP70	97720472	1.000000	0.71417	1.000000	0.80357	0.784000	0.44337	9.860000	0.99555	2.610000	0.88304	0.655000	0.94253	CGC		0.587	ZAP70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329278.1			10	12	0	0	0	1	0	10	12					A	98354040	G	A	98354040	3	1	435	1	0	0	0	0	1	0	0	0	17511	1087	38	1	1428	1	ZAP70	2	98354040	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	2324	98354040	144845333	1191	22116											
TMEM131	23505	broad.mit.edu	37	chr2	98373685	98373685	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcagctggactggaggtggaGggagcgtgaggagcagggga	9	5	22	5	1	1	1	1	1	0	0	1	7	1	7	0	8	3	2	0	8	0	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:98373685G>T	ENST00000186436.5	-	41	5757	c.5529C>A	c.(5527-5529)ccC>ccA	p.P1843P		NM_015348.1	NP_056163.1	Q92545	TM131_HUMAN	transmembrane protein 131	1843						integral component of membrane (GO:0016021)				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(4)|prostate(1)|skin(1)|stomach(1)	57						TGGAGGTGGAGGGAGCGTGAG	0.587																																						ENST00000186436.5																			0				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(4)|prostate(1)|skin(1)|stomach(1)	57						c.(5527-5529)ccC>ccA		transmembrane protein 131							135	138	137					2																	98373685		2127	4236	6363	SO:0001819	synonymous_variant	23505					integral to membrane		g.chr2:98373685G>T	AK025852	CCDS46368.1	2q11.2	2006-04-12			ENSG00000075568	ENSG00000075568			30366	protein-coding gene	gene with protein product		615659				9039502, 10996388	Standard	NM_015348		Approved	CC28, YR-23, RW1, KIAA0257, PRO1048	uc002syh.4	Q92545	OTTHUMG00000153061	ENST00000186436.5:c.5529C>A	2.37:g.98373685G>T							p.P1843P	NM_015348.1	NP_056163.1	Q92545	TM131_HUMAN			41	5757	-			1843						Silent	SNP	ENST00000186436.5	37	c.5529C>A	CCDS46368.1																																																																																				0.587	TMEM131-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329285.2	XM_371542		14	26	1	0	0.000151284	1	0.000155038	14	26					T	98373685	G	T	98373685	2	4	435	1	0	0	0	0	0	0	0	1	16041	987	35	5		5	TMEM131	2	98373685	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	19645	98373685	144825688	1192	22117											
INPP4A	3631	broad.mit.edu	37	chr2	99155420	99155420	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gatccaaatacgcttcattgCgaaaggacactttgctgaaa	14	10	8	9	2	1	1	1	1	0	0	2	4	2	2	1	1	3	2	1	1	4	4	rs367863127		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:99155420C>T	ENST00000523221.1	+	7	646	c.646C>T	c.(646-648)Cga>Tga	p.R216*	INPP4A_ENST00000545415.1_Nonsense_Mutation_p.R216*|INPP4A_ENST00000074304.5_Nonsense_Mutation_p.R216*|INPP4A_ENST00000409540.3_Nonsense_Mutation_p.R216*|INPP4A_ENST00000409016.4_Nonsense_Mutation_p.R216*|INPP4A_ENST00000409851.3_Nonsense_Mutation_p.R216*|INPP4A_ENST00000409463.1_Intron			Q96PE3	INP4A_HUMAN	inositol polyphosphate-4-phosphatase, type I, 107kDa	216					inositol phosphate metabolic process (GO:0043647)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity (GO:0016316)|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity (GO:0034597)			breast(1)|endometrium(9)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|prostate(4)|upper_aerodigestive_tract(4)	43						CGCTTCATTGCGAAAGGACAC	0.478																																						ENST00000074304.5																			0				breast(1)|endometrium(9)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|prostate(4)|upper_aerodigestive_tract(4)	43						c.(646-648)Cga>Tga		inositol polyphosphate-4-phosphatase, type I, 107kDa							94	93	93					2																	99155420		2022	4182	6204	SO:0001587	stop_gained	3631				signal transduction		phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity	g.chr2:99155420C>T	U26398	CCDS46369.1, CCDS46370.1, CCDS46371.1, CCDS46372.1	2q11.2	2008-05-27	2002-08-29		ENSG00000040933	ENSG00000040933			6074	protein-coding gene	gene with protein product		600916	"inositol polyphosphate-4-phosphatase, type I, 107kD"	INPP4		7608176, 9295334	Standard	NM_004027		Approved		uc002syy.3	Q96PE3	OTTHUMG00000153106	ENST00000523221.1:c.646C>T	2.37:g.99155420C>T	ENSP00000427722:p.Arg216*					INPP4A_ENST00000409540.3_Nonsense_Mutation_p.R216*|INPP4A_ENST00000523221.1_Nonsense_Mutation_p.R216*|INPP4A_ENST00000545415.1_Nonsense_Mutation_p.R216*|INPP4A_ENST00000409851.3_Nonsense_Mutation_p.R216*|INPP4A_ENST00000409016.3_Nonsense_Mutation_p.R216*|INPP4A_ENST00000409463.1_Intron	p.R216*	NM_001134224.1	NP_001127696.1	Q96PE3	INP4A_HUMAN			9	1039	+			216					O15326|Q13187|Q53TD8|Q8TC02	Nonsense_Mutation	SNP	ENST00000523221.1	37	c.646C>T	CCDS46369.1	.	.	.	.	.	.	.	.	.	.	C	38	7.205138	0.98132	.	.	ENSG00000040933	ENST00000409016;ENST00000409851;ENST00000074304;ENST00000545415;ENST00000409540;ENST00000523221	.	.	.	5.11	2.22	0.28083	.	0.119694	0.56097	D	0.000023	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.08179	T	0.78	-5.7381	14.4005	0.67041	0.6196:0.3804:0.0:0.0	.	.	.	.	X	216	.	ENSP00000074304:R216X	R	+	1	2	INPP4A	98521852	0.946000	0.32159	0.954000	0.39281	0.726000	0.41606	0.053000	0.14184	0.278000	0.22164	-0.302000	0.09304	CGA		0.478	INPP4A-009	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000376095.1	NM_001566		4	19	0	0	0	1	0	4	19					T	99155420	C	T	99155420	4	4	435	1	0	0	0	0	0	1	0	0	7752	760	27	1	672	1	INPP4A	2	99155420	Nonsense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	781735	99155420	144043953	1193	22118											
INPP4A	3631	broad.mit.edu	37	chr2	99193459	99193459	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttctgttggcagatctgccGccgccttaatggggtccggt	4	13	13	11	3	2	1	0	0	2	1	3	1	3	1	4	4	1	2	4	4	1	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:99193459G>A	ENST00000523221.1	+	23	2654	c.2654G>A	c.(2653-2655)cGc>cAc	p.R885H	INPP4A_ENST00000545415.1_Missense_Mutation_p.R846H|INPP4A_ENST00000074304.5_Missense_Mutation_p.R885H|INPP4A_ENST00000409540.3_Missense_Mutation_p.R846H|INPP4A_ENST00000409016.4_Missense_Mutation_p.R846H|INPP4A_ENST00000409851.3_Missense_Mutation_p.R880H|INPP4A_ENST00000409463.1_Missense_Mutation_p.R214H			Q96PE3	INP4A_HUMAN	inositol polyphosphate-4-phosphatase, type I, 107kDa	885					inositol phosphate metabolic process (GO:0043647)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity (GO:0016316)|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity (GO:0034597)			breast(1)|endometrium(9)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|prostate(4)|upper_aerodigestive_tract(4)	43						CAGATCTGCCGCCGCCTTAAT	0.592																																						ENST00000074304.5																			0				breast(1)|endometrium(9)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|prostate(4)|upper_aerodigestive_tract(4)	43						c.(2653-2655)cGc>cAc		inositol polyphosphate-4-phosphatase, type I, 107kDa							61	64	63					2																	99193459		2064	4200	6264	SO:0001583	missense	3631				signal transduction		phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity	g.chr2:99193459G>A	U26398	CCDS46369.1, CCDS46370.1, CCDS46371.1, CCDS46372.1	2q11.2	2008-05-27	2002-08-29		ENSG00000040933	ENSG00000040933			6074	protein-coding gene	gene with protein product		600916	"inositol polyphosphate-4-phosphatase, type I, 107kD"	INPP4		7608176, 9295334	Standard	NM_004027		Approved		uc002syy.3	Q96PE3	OTTHUMG00000153106	ENST00000523221.1:c.2654G>A	2.37:g.99193459G>A	ENSP00000427722:p.Arg885His					INPP4A_ENST00000409540.3_Missense_Mutation_p.R846H|INPP4A_ENST00000523221.1_Missense_Mutation_p.R885H|INPP4A_ENST00000545415.1_Missense_Mutation_p.R846H|INPP4A_ENST00000409851.3_Missense_Mutation_p.R880H|INPP4A_ENST00000409016.3_Missense_Mutation_p.R846H|INPP4A_ENST00000409463.1_Missense_Mutation_p.R214H	p.R885H	NM_001134224.1	NP_001127696.1	Q96PE3	INP4A_HUMAN			25	3047	+			885					O15326|Q13187|Q53TD8|Q8TC02	Missense_Mutation	SNP	ENST00000523221.1	37	c.2654G>A	CCDS46369.1	.	.	.	.	.	.	.	.	.	.	G	29.0	4.972895	0.92919	.	.	ENSG00000040933	ENST00000409016;ENST00000409851;ENST00000409463;ENST00000074304;ENST00000545415;ENST00000409540;ENST00000523221	T;T;T;T;T;T;T	0.51574	1.59;1.95;0.7;1.95;1.59;1.57;1.95	4.47	4.47	0.54385	.	0.000000	0.85682	D	0.000000	T	0.71854	0.3389	M	0.85373	2.75	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;0.999;1.0;1.0	D;D;D;D;D	0.91635	0.993;0.997;0.947;0.999;0.999	T	0.77616	-0.2521	10	0.66056	D	0.02	-18.1366	16.2973	0.82783	0.0:0.0:1.0:0.0	.	846;846;214;885;880	Q96PE3-2;Q96PE3-4;B8ZZB2;Q96PE3;Q96PE3-3	.;.;.;INP4A_HUMAN;.	H	846;880;214;885;846;846;885	ENSP00000386704:R846H;ENSP00000386777:R880H;ENSP00000386329:R214H;ENSP00000074304:R885H;ENSP00000442149:R846H;ENSP00000387294:R846H;ENSP00000427722:R885H	ENSP00000074304:R885H	R	+	2	0	INPP4A	98559891	1.000000	0.71417	1.000000	0.80357	0.840000	0.47671	9.657000	0.98554	2.342000	0.79632	0.462000	0.41574	CGC		0.592	INPP4A-009	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000376095.1	NM_001566		22	40	0	0	0	1	0	22	40					A	99193459	G	A	99193459	3	1	435	1	0	0	0	0	1	0	0	0	7752	1087	38	1	2744	1	INPP4A	2	99193459	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	38039	99193459	144005914	1194	22119											
MGAT4A	11320	broad.mit.edu	37	chr2	99279509	99279509	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aacaacaattaaataattacCtctcctatgaagactactat	18	12	2	9	0	1	2	0	1	1	1	2	2	1	2	2	0	4	0	2	0	11	6			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:99279509C>A	ENST00000264968.3	-	4	900	c.537G>T	c.(535-537)gaG>gaT	p.E179D	MGAT4A_ENST00000409391.1_Splice_Site_p.E179D|MGAT4A_ENST00000461884.1_5'UTR|MGAT4A_ENST00000393487.1_Splice_Site_p.E179D|MGAT4A_ENST00000414521.2_Splice_Site_p.E51D			Q9UM21	MGT4A_HUMAN	mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme A	179					cellular protein metabolic process (GO:0044267)|N-glycan processing (GO:0006491)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity (GO:0008454)|metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|stomach(1)	19						AAATAATTACCTCTCCTATGA	0.289																																						ENST00000393487.1																			0				NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|stomach(1)	19						c.e5+1		mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme A							85	94	91					2																	99279509		2203	4291	6494	SO:0001630	splice_region_variant	11320				N-glycan processing|post-translational protein modification|protein N-linked glycosylation via asparagine	extracellular region|Golgi membrane|integral to membrane	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity|metal ion binding	g.chr2:99279509C>A	AB000616	CCDS2036.1, CCDS54380.1	2q12	2013-02-25	2005-11-16		ENSG00000071073	ENSG00000071073	2.4.1.145	"Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"	7047	protein-coding gene	gene with protein product		604623	"mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isoenzyme A"			10024668	Standard	NM_001160154		Approved	GnT-Iva, GnT-4a	uc002sze.3	Q9UM21	OTTHUMG00000130563	ENST00000264968.3:c.537+1G>T	2.37:g.99279509C>A						MGAT4A_ENST00000461884.1_5'UTR|MGAT4A_ENST00000264968.2_Splice_Site_p.E179_splice|MGAT4A_ENST00000409391.1_Splice_Site_p.E179_splice|MGAT4A_ENST00000414521.2_Splice_Site_p.E51_splice	p.E179_splice	NM_012214.2	NP_036346.1	Q9UM21	MGT4A_HUMAN			5	850	-			179					B4E2R6|D3DVH6|E9PEN2|Q53S97|Q86Z15	Splice_Site	SNP	ENST00000264968.3	37	c.537_splice	CCDS2036.1	.	.	.	.	.	.	.	.	.	.	C	32	5.118141	0.94385	.	.	ENSG00000071073	ENST00000393487;ENST00000414521;ENST00000264968;ENST00000409391	T;T;T;T	0.39592	1.07;1.07;1.07;1.07	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	T	0.58424	0.2121	L	0.44542	1.39	0.80722	D	1	D;D;D	0.69078	0.997;0.997;0.966	D;D;P	0.79108	0.992;0.992;0.627	T	0.50021	-0.8876	9	.	.	.	.	19.2094	0.93748	0.0:1.0:0.0:0.0	.	51;51;179	E9PEN2;B4E2R6;Q9UM21	.;.;MGT4A_HUMAN	D	179;51;179;179	ENSP00000377127:E179D;ENSP00000404889:E51D;ENSP00000264968:E179D;ENSP00000386841:E179D	.	E	-	3	2	MGAT4A	98645941	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.776000	0.85560	2.860000	0.98153	0.655000	0.94253	GAG		0.289	MGAT4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252988.2	NM_012214	Missense_Mutation	62	70	1	0	5.19286e-32	1	5.82399e-32	62	70					A	99279509	C	A	99279509	5	1	435	1	0	0	0	0	0	0	1	0	9545	695	24	5	1197	5	MGAT4A	2	99279509	Splice_Site	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	86050	99279509	143919864	1195	22120											
C2orf55	343990	broad.mit.edu	37	chr2	99454682	99454682	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtgctacttcctgtggacgAcggcgattcttttctcttct	4	16	10	11	3	3	0	0	0	3	0	5	3	4	1	1	3	2	1	1	3	1	6			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:99454682A>G	ENST00000397899.2	-	3	470	c.139T>C	c.(139-141)Tcg>Ccg	p.S47P	RNU7-46P_ENST00000459066.1_RNA|KIAA1211L_ENST00000462314.1_5'UTR	NM_207362.2	NP_997245.2	Q6NV74	K121L_HUMAN	KIAA1211-like	47																	CCTGTGGACGACGGCGATTCT	0.403																																						ENST00000397899.2																			0											c.(139-141)Tcg>Ccg		KIAA1211-like							115	107	109					2																	99454682		1971	4151	6122	SO:0001583	missense	343990							g.chr2:99454682A>G	BC068277	CCDS42720.1	2q11.2	2012-08-03	2012-08-03	2012-08-03	ENSG00000196872	ENSG00000196872			33454	protein-coding gene	gene with protein product			"chromosome 2 open reading frame 55"	C2orf55			Standard	NM_207362		Approved	MGC42367	uc002szf.1	Q6NV74	OTTHUMG00000153171	ENST00000397899.2:c.139T>C	2.37:g.99454682A>G	ENSP00000380996:p.Ser47Pro					KIAA1211L_ENST00000462314.1_5'UTR	p.S47P	NM_207362.2	NP_997245.2					3	470	-									Missense_Mutation	SNP	ENST00000397899.2	37	c.139T>C	CCDS42720.1	.	.	.	.	.	.	.	.	.	.	A	14.20	2.464021	0.43736	.	.	ENSG00000196872	ENST00000397899;ENST00000423771;ENST00000428096;ENST00000415261	T	0.46819	0.86	5.53	1.75	0.24633	.	0.167758	0.28971	N	0.013555	T	0.36635	0.0974	L	0.51422	1.61	0.09310	N	1	B	0.25390	0.125	B	0.26202	0.067	T	0.35001	-0.9806	10	0.72032	D	0.01	-8.1046	4.5054	0.11885	0.6804:0.1273:0.0699:0.1223	.	47	Q6NV74	CB055_HUMAN	P	47;75;61;61	ENSP00000380996:S47P	ENSP00000380996:S47P	S	-	1	0	C2orf55	98821114	0.004000	0.15560	0.051000	0.19133	0.702000	0.40608	0.028000	0.13644	1.072000	0.40860	0.533000	0.62120	TCG		0.403	KIAA1211L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329933.1	NM_207362		6	33	0	0	0	1	0	6	33					G	99454682	A	G	99454682	3	3	435	1	0	0	0	0	1	0	0	0	2176	275	10	4	2781	4	C2orf55	2	99454682	Missense_Mutation	SNP	A	TCGA-XK-AAIW-01A-11D-A41K-08	175173	99454682	143744691	1196	22121											
AFF3	3899	broad.mit.edu	37	chr2	100181979	100181979	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctactgtttctgaatacatcGtataaggagatttggattcc	11	15	8	7	1	1	2	0	1	1	1	3	4	2	3	1	2	2	2	1	2	5	7	rs530073150		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:100181979G>A	ENST00000409236.2	-	18	3201	c.3089C>T	c.(3088-3090)aCg>aTg	p.T1030M	AFF3_ENST00000356421.2_Missense_Mutation_p.T1055M|AFF3_ENST00000409579.1_Missense_Mutation_p.T1055M|AFF3_ENST00000317233.4_Missense_Mutation_p.T1030M			P51826	AFF3_HUMAN	AF4/FMR2 family, member 3	1030				T -> YL (in Ref. 1; AAA98763). {ECO:0000305}.	embryonic hindlimb morphogenesis (GO:0035116)|regulation of transcription, DNA-templated (GO:0006355)|response to tumor necrosis factor (GO:0034612)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)			NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						TGAATACATCGTATAAGGAGA	0.448													G|||	1	0.000199681	0	0	5008	,	,		20230	0		0	False		,,,				2504	0.001					ENST00000317233.4																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						c.(3088-3090)aCg>aTg		AF4/FMR2 family, member 3							192	180	184					2																	100181979		2203	4300	6503	SO:0001583	missense	3899				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr2:100181979G>A	U34360	CCDS33258.1, CCDS42723.1	2q11.2-q12	2008-02-05	2005-06-27	2005-06-27	ENSG00000144218	ENSG00000144218			6473	protein-coding gene	gene with protein product		601464	"lymphoid nuclear protein related to AF4"	LAF4		8662235, 8555498	Standard	XM_005263945		Approved	MLLT2-like	uc002taf.3	P51826	OTTHUMG00000153011	ENST00000409236.2:c.3089C>T	2.37:g.100181979G>A	ENSP00000387207:p.Thr1030Met					AFF3_ENST00000409579.1_Missense_Mutation_p.T1055M|AFF3_ENST00000356421.2_Missense_Mutation_p.T1055M|AFF3_ENST00000409236.1_Missense_Mutation_p.T1030M	p.T1030M	NM_002285.2	NP_002276.2	P51826	AFF3_HUMAN			19	3324	-			1030	T -> YL (in Ref. 1; AAA98763).				B7ZM46|B9EGL9|D3DVI6|Q53RD6|Q53S47|Q53SI6|Q53TB9|Q59F27|Q8IWJ5	Missense_Mutation	SNP	ENST00000409236.2	37	c.3089C>T	CCDS42723.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.025103	0.75390	.	.	ENSG00000144218	ENST00000317233;ENST00000356421;ENST00000409579;ENST00000409236;ENST00000445815	T;T;T;T;T	0.67345	-0.26;-0.26;-0.26;-0.26;-0.26	5.67	4.79	0.61399	.	0.055536	0.64402	N	0.000001	D	0.83184	0.5199	M	0.86268	2.805	0.80722	D	1	D;D	0.89917	1.0;0.975	D;B	0.85130	0.997;0.356	D	0.86314	0.1688	10	0.72032	D	0.01	.	15.1141	0.72388	0.0683:0.0:0.9317:0.0	.	1030;1055	P51826;P51826-2	AFF3_HUMAN;.	M	1030;1055;1055;1030;72	ENSP00000317421:T1030M;ENSP00000348793:T1055M;ENSP00000386834:T1055M;ENSP00000387207:T1030M;ENSP00000416685:T72M	ENSP00000317421:T1030M	T	-	2	0	AFF3	99548411	1.000000	0.71417	0.297000	0.24988	0.990000	0.78478	7.915000	0.87484	1.531000	0.49152	-0.150000	0.13652	ACG		0.448	AFF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328982.3	NM_002285		44	61	0	0	0	1	0	44	61					A	100181979	G	A	100181979	3	1	435	1	0	0	0	0	1	0	0	0	358	1145	40	1	615	1	AFF3	2	100181979	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	727297	100181979	143017394	1197	22122											
AFF3	3899	broad.mit.edu	37	chr2	100210199	100210199	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctcgcaggtcacggaggagcGcagctccttgcggtggctcg	5	7	16	13	5	1	0	1	0	0	0	4	2	2	2	1	5	3	4	1	5	0	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:100210199G>A	ENST00000409236.2	-	13	2036	c.1924C>T	c.(1924-1926)Cgc>Tgc	p.R642C	AFF3_ENST00000356421.2_Missense_Mutation_p.R667C|AFF3_ENST00000409579.1_Missense_Mutation_p.R667C|AFF3_ENST00000317233.4_Missense_Mutation_p.R642C			P51826	AFF3_HUMAN	AF4/FMR2 family, member 3	642					embryonic hindlimb morphogenesis (GO:0035116)|regulation of transcription, DNA-templated (GO:0006355)|response to tumor necrosis factor (GO:0034612)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)	p.R667C(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						ACGGAGGAGCGCAGCTCCTTG	0.657																																						ENST00000317233.4																			1	Substitution - Missense(1)	p.R667C(1)	large_intestine(1)	NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						c.(1924-1926)Cgc>Tgc		AF4/FMR2 family, member 3							45	49	48					2																	100210199		2203	4300	6503	SO:0001583	missense	3899				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr2:100210199G>A	U34360	CCDS33258.1, CCDS42723.1	2q11.2-q12	2008-02-05	2005-06-27	2005-06-27	ENSG00000144218	ENSG00000144218			6473	protein-coding gene	gene with protein product		601464	"lymphoid nuclear protein related to AF4"	LAF4		8662235, 8555498	Standard	XM_005263945		Approved	MLLT2-like	uc002taf.3	P51826	OTTHUMG00000153011	ENST00000409236.2:c.1924C>T	2.37:g.100210199G>A	ENSP00000387207:p.Arg642Cys					AFF3_ENST00000409579.1_Missense_Mutation_p.R667C|AFF3_ENST00000356421.2_Missense_Mutation_p.R667C|AFF3_ENST00000409236.1_Missense_Mutation_p.R642C	p.R642C	NM_002285.2	NP_002276.2	P51826	AFF3_HUMAN			14	2159	-			642					B7ZM46|B9EGL9|D3DVI6|Q53RD6|Q53S47|Q53SI6|Q53TB9|Q59F27|Q8IWJ5	Missense_Mutation	SNP	ENST00000409236.2	37	c.1924C>T	CCDS42723.1	.	.	.	.	.	.	.	.	.	.	G	17.86	3.493608	0.64186	.	.	ENSG00000144218	ENST00000317233;ENST00000356421;ENST00000409579;ENST00000409236;ENST00000433370;ENST00000444786;ENST00000432288	T;T;T;T	0.69175	-0.38;-0.38;-0.38;-0.38	4.72	4.72	0.59763	.	0.106321	0.39544	N	0.001335	T	0.81264	0.4786	M	0.76328	2.33	0.47476	D	0.999436	D;D;D	0.89917	1.0;0.998;0.999	D;P;P	0.76071	0.987;0.836;0.881	D	0.84040	0.0364	10	0.87932	D	0	.	16.2199	0.82254	0.0:0.0:1.0:0.0	.	795;642;667	B7Z4I6;P51826;P51826-2	.;AFF3_HUMAN;.	C	642;667;667;642;642;795;667	ENSP00000317421:R642C;ENSP00000348793:R667C;ENSP00000386834:R667C;ENSP00000387207:R642C	ENSP00000317421:R642C	R	-	1	0	AFF3	99576631	.	.	0.981000	0.43875	0.931000	0.56810	.	.	2.345000	0.79718	0.561000	0.74099	CGC		0.657	AFF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328982.3	NM_002285		12	28	0	0	0	1	0	12	28					A	100210199	G	A	100210199	3	1	435	1	0	0	0	0	1	0	0	0	358	1087	38	1	1800	1	AFF3	2	100210199	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	28220	100210199	142989174	1198	22123											
AFF3	3899	broad.mit.edu	37	chr2	100623347	100623347	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gaacacagtgtccgctgctgCtgtgcttggccgccatggca	6	9	13	13	2	0	0	0	0	0	0	1	1	1	0	3	2	4	5	3	2	1	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:100623347C>T	ENST00000409236.2	-	5	732	c.620G>A	c.(619-621)aGc>aAc	p.S207N	AFF3_ENST00000356421.2_Missense_Mutation_p.S232N|AFF3_ENST00000409579.1_Missense_Mutation_p.S232N|AFF3_ENST00000317233.4_Missense_Mutation_p.S207N			P51826	AFF3_HUMAN	AF4/FMR2 family, member 3	207					embryonic hindlimb morphogenesis (GO:0035116)|regulation of transcription, DNA-templated (GO:0006355)|response to tumor necrosis factor (GO:0034612)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)			NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						TCCGCTGCTGCTGTGCTTGGC	0.597																																						ENST00000317233.4																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						c.(619-621)aGc>aAc		AF4/FMR2 family, member 3							83	83	83					2																	100623347		2203	4300	6503	SO:0001583	missense	3899				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr2:100623347C>T	U34360	CCDS33258.1, CCDS42723.1	2q11.2-q12	2008-02-05	2005-06-27	2005-06-27	ENSG00000144218	ENSG00000144218			6473	protein-coding gene	gene with protein product		601464	"lymphoid nuclear protein related to AF4"	LAF4		8662235, 8555498	Standard	XM_005263945		Approved	MLLT2-like	uc002taf.3	P51826	OTTHUMG00000153011	ENST00000409236.2:c.620G>A	2.37:g.100623347C>T	ENSP00000387207:p.Ser207Asn					AFF3_ENST00000409579.1_Missense_Mutation_p.S232N|AFF3_ENST00000356421.2_Missense_Mutation_p.S232N|AFF3_ENST00000409236.1_Missense_Mutation_p.S207N	p.S207N	NM_002285.2	NP_002276.2	P51826	AFF3_HUMAN			6	855	-			207					B7ZM46|B9EGL9|D3DVI6|Q53RD6|Q53S47|Q53SI6|Q53TB9|Q59F27|Q8IWJ5	Missense_Mutation	SNP	ENST00000409236.2	37	c.620G>A	CCDS42723.1	.	.	.	.	.	.	.	.	.	.	C	12.71	2.021026	0.35606	.	.	ENSG00000144218	ENST00000317233;ENST00000356421;ENST00000409579;ENST00000409236;ENST00000433370;ENST00000444786;ENST00000432288	T;T;T;T	0.66995	-0.24;-0.24;-0.24;-0.24	5.45	4.57	0.56435	.	0.570276	0.18223	N	0.147823	T	0.52757	0.1754	L	0.36672	1.1	0.09310	N	1	B;B;B;B;B	0.31655	0.003;0.001;0.334;0.002;0.001	B;B;B;B;B	0.30943	0.012;0.002;0.122;0.003;0.002	T	0.39251	-0.9623	10	0.23302	T	0.38	.	9.0242	0.36218	0.1467:0.7792:0.0:0.0741	.	361;361;207;207;232	B7Z4I6;C9JXV5;A8K353;P51826;P51826-2	.;.;.;AFF3_HUMAN;.	N	207;232;232;207;207;361;232	ENSP00000317421:S207N;ENSP00000348793:S232N;ENSP00000386834:S232N;ENSP00000387207:S207N	ENSP00000317421:S207N	S	-	2	0	AFF3	99989779	0.114000	0.22134	0.135000	0.22099	0.965000	0.64279	1.922000	0.40045	1.293000	0.44690	0.650000	0.86243	AGC		0.597	AFF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328982.3	NM_002285		20	29	0	0	0	1	0	20	29					T	100623347	C	T	100623347	3	4	435	1	0	0	0	0	1	0	0	0	358	797	28	3	3136	3	AFF3	2	100623347	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	413148	100623347	142576026	1199	22124											
NPAS2	4862	broad.mit.edu	37	chr2	101591981	101591981	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgccaagatcagccaccctGccccaagagttacctgtccc	9	8	7	17	0	1	2	1	0	0	2	2	2	2	2	7	0	4	1	7	0	3	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:101591981G>A	ENST00000335681.5	+	14	1629	c.1344G>A	c.(1342-1344)ctG>ctA	p.L448L	NPAS2_ENST00000542504.1_Silent_p.L513L|AC016738.3_ENST00000446644.1_RNA|AC016738.3_ENST00000439150.1_RNA|AC016738.3_ENST00000433012.1_RNA	NM_002518.3	NP_002509.2	Q99743	NPAS2_HUMAN	neuronal PAS domain protein 2	448					cellular lipid metabolic process (GO:0044255)|cellular response to DNA damage stimulus (GO:0006974)|central nervous system development (GO:0007417)|circadian regulation of gene expression (GO:0032922)|circadian sleep/wake cycle (GO:0042745)|locomotor rhythm (GO:0045475)|negative regulation of cell death (GO:0060548)|positive regulation of DNA repair (GO:0045739)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of response to DNA damage stimulus (GO:2001020)|response to redox state (GO:0051775)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	core promoter binding (GO:0001047)|DNA binding (GO:0003677)|Hsp90 protein binding (GO:0051879)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			cervix(1)|endometrium(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CAGCCACCCTGCCCCAAGAGT	0.582																																						ENST00000335681.5																			0				cervix(1)|endometrium(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(1342-1344)ctG>ctA		neuronal PAS domain protein 2							100	102	101					2																	101591981		2203	4300	6503	SO:0001819	synonymous_variant	4862				central nervous system development|positive regulation of transcription from RNA polymerase II promoter|rhythmic process	transcription factor complex	DNA binding|Hsp90 protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr2:101591981G>A	U77970	CCDS2048.1	2q11.2	2013-05-21			ENSG00000170485	ENSG00000170485		"Basic helix-loop-helix proteins"	7895	protein-coding gene	gene with protein product		603347				9012850, 9079689	Standard	NM_002518		Approved	MOP4, PASD4, bHLHe9	uc002tap.1	Q99743	OTTHUMG00000130675	ENST00000335681.5:c.1344G>A	2.37:g.101591981G>A						NPAS2_ENST00000542504.1_Silent_p.L513L|AC016738.3_ENST00000439150.1_RNA|AC016738.3_ENST00000446644.1_RNA	p.L448L	NM_002518.3	NP_002509.2	Q99743	NPAS2_HUMAN			14	1629	+			448					Q4ZFV9|Q53SQ3|Q86V96|Q99629	Silent	SNP	ENST00000335681.5	37	c.1344G>A	CCDS2048.1																																																																																				0.582	NPAS2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253168.3			9	81	0	0	0	1	0	9	81					A	101591981	G	A	101591981	2	1	435	1	0	0	0	0	0	0	0	1	10563	1306	46	3		3	NPAS2	2	101591981	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	968634	101591981	141607392	1200	22125											
TBC1D8	11138	broad.mit.edu	37	chr2	101644513	101644513	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aggcgtctgctacccaccacGttctgctttgtggtgtcctc	4	13	10	14	2	2	0	0	0	2	0	4	0	3	0	3	2	3	3	3	2	1	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:101644513G>A	ENST00000376840.4	-	14	2402	c.2403C>T	c.(2401-2403)aaC>aaT	p.N801N	TBC1D8_ENST00000409318.1_Silent_p.N816N			O95759	TBCD8_HUMAN	TBC1 domain family, member 8 (with GRAM domain)	801					blood circulation (GO:0008015)|positive regulation of cell proliferation (GO:0008284)	membrane (GO:0016020)	calcium ion binding (GO:0005509)|Rab GTPase activator activity (GO:0005097)			breast(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(2)|lung(12)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	32						TACCCACCACGTTCTGCTTTG	0.537																																						ENST00000409318.1																			0				breast(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(2)|lung(12)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	32						c.(2446-2448)aaC>aaT		TBC1 domain family, member 8 (with GRAM domain)							91	88	89					2																	101644513		2040	4177	6217	SO:0001819	synonymous_variant	11138				blood circulation|positive regulation of cell proliferation	intracellular|membrane	calcium ion binding|Rab GTPase activator activity	g.chr2:101644513G>A	AB024057	CCDS46375.1	2q12.1	2011-11-30			ENSG00000204634	ENSG00000204634			17791	protein-coding gene	gene with protein product	"BUB2-like protein 1", "vascular Rab-GAP/TBC-containing protein"					10373574	Standard	NM_001102426		Approved	HBLP1, VRP, AD3	uc010fiv.3	O95759	OTTHUMG00000153040	ENST00000376840.4:c.2403C>T	2.37:g.101644513G>A						TBC1D8_ENST00000376840.4_Silent_p.N801N	p.N816N	NM_001102426.1	NP_001095896.1	O95759	TBCD8_HUMAN			14	2578	-			801					A6NDL4|A8K9W1|B9A6K4|Q53SQ4|Q9UQ32	Silent	SNP	ENST00000376840.4	37	c.2448C>T	CCDS46375.1																																																																																				0.537	TBC1D8-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376092.1	NM_007063		10	12	0	0	0	1	0	10	12					A	101644513	G	A	101644513	2	1	435	1	0	0	0	0	0	0	0	1	15622	1136	40	1		1	TBC1D8	2	101644513	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	52532	101644513	141554860	1201	22126											
RNF149	284996	broad.mit.edu	37	chr2	101911428	101911428	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agagccagtatataggaaacGctgtatatagtaaaatatta	18	11	8	4	1	0	1	0	0	0	1	0	2	0	2	1	1	2	4	1	1	11	9			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:101911428G>A	ENST00000295317.3	-	2	783	c.676C>T	c.(676-678)Cgt>Tgt	p.R226C		NM_173647.3	NP_775918.2	Q8NC42	RN149_HUMAN	ring finger protein 149	226					cellular response to drug (GO:0035690)|negative regulation of MAPK cascade (GO:0043409)|regulation of protein stability (GO:0031647)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	12						TATAGGAAACGCTGTATATAG	0.373																																					Colon(25;331 612 6521 7355 31028)	ENST00000295317.3																			0				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	12						c.(676-678)Cgt>Tgt		ring finger protein 149							66	68	68					2																	101911428		2203	4300	6503	SO:0001583	missense	284996					integral to membrane	ligase activity|zinc ion binding	g.chr2:101911428G>A	AK074985	CCDS2051.1	2q12.1	2013-01-09			ENSG00000163162	ENSG00000163162		"RING-type (C3HC4) zinc fingers"	23137	protein-coding gene	gene with protein product							Standard	NM_173647		Approved	FLJ90504	uc002taz.2	Q8NC42	OTTHUMG00000130685	ENST00000295317.3:c.676C>T	2.37:g.101911428G>A	ENSP00000295317:p.Arg226Cys						p.R226C	NM_173647.3	NP_775918.2	Q8NC42	RN149_HUMAN			2	783	-			226					Q53S14|Q8N5I8|Q8NBY5|Q8WUU3	Missense_Mutation	SNP	ENST00000295317.3	37	c.676C>T	CCDS2051.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.045576	0.75846	.	.	ENSG00000163162	ENST00000295317	T	0.13196	2.61	5.54	4.66	0.58398	.	0.000000	0.64402	D	0.000006	T	0.38852	0.1056	M	0.81682	2.555	0.80722	D	1	D	0.89917	1.0	D	0.71656	0.974	T	0.38001	-0.9681	10	0.87932	D	0	.	14.1587	0.65432	0.0714:0.0:0.9286:0.0	.	226	Q8NC42	RN149_HUMAN	C	226	ENSP00000295317:R226C	ENSP00000295317:R226C	R	-	1	0	RNF149	101277860	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.731000	0.62022	1.345000	0.45676	0.591000	0.81541	CGT		0.373	RNF149-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253180.2	NM_173647		12	46	0	0	0	1	0	12	46					A	101911428	G	A	101911428	3	1	435	1	0	0	0	0	1	0	0	0	13450	1087	38	1	550	1	RNF149	2	101911428	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	266915	101911428	141287945	1202	22127											
MAP4K4	9448	broad.mit.edu	37	chr2	102452432	102452432	+	Frame_Shift_Del	DEL	A	A	-																															cctcctccccggctgaagtcAaaaaaatggtaagctatata																										TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:102452432delA	ENST00000347699.4	+	9	765	c.765delA	c.(763-765)tcafs	p.S255fs	MAP4K4_ENST00000324219.4_Frame_Shift_Del_p.S255fs|MAP4K4_ENST00000456652.1_Intron|MAP4K4_ENST00000350878.4_Frame_Shift_Del_p.S235fs|MAP4K4_ENST00000350198.4_Frame_Shift_Del_p.S255fs|MAP4K4_ENST00000425019.1_Frame_Shift_Del_p.S255fs|MAP4K4_ENST00000413150.2_Frame_Shift_Del_p.S255fs|MAP4K4_ENST00000302217.5_Intron	NM_001242559.1|NM_145687.3	NP_001229488.1|NP_663720.1	O95819	M4K4_HUMAN	mitogen-activated protein kinase kinase kinase kinase 4	255	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				intracellular signal transduction (GO:0035556)|protein phosphorylation (GO:0006468)|regulation of JNK cascade (GO:0046328)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						GGCTGAAGTCAAAAAAATGGT	0.413																																						ENST00000413150.2																			0				breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						c.(763-765)tcfs		mitogen-activated protein kinase kinase kinase kinase 4							71	71	71					2																	102452432		1827	4090	5917	SO:0001589	frameshift_variant	9448				intracellular protein kinase cascade|regulation of JNK cascade|response to stress	cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chr2:102452432delA	AF096300	CCDS56130.1, CCDS74546.1	2q11.2-q12	2011-06-09			ENSG00000071054	ENSG00000071054		"Mitogen-activated protein kinase cascade / Kinase kinase kinase kinases"	6866	protein-coding gene	gene with protein product	"HPK/GCK-like kinase", "hepatocyte progenitor kinase-like/germinal center kinase-like kinase"	604666				9890973, 9734811, 9135144	Standard	NM_004834		Approved	HGK, NIK, FLH21957	uc002tbf.3	O95819	OTTHUMG00000155394	ENST00000347699.4:c.765delA	2.37:g.102452432delA	ENSP00000314363:p.Ser255fs					MAP4K4_ENST00000302217.5_Intron|MAP4K4_ENST00000350198.4_Frame_Shift_Del_p.S255fs|MAP4K4_ENST00000350878.4_Frame_Shift_Del_p.S235fs|MAP4K4_ENST00000324219.4_Frame_Shift_Del_p.S255fs|MAP4K4_ENST00000425019.1_Frame_Shift_Del_p.S255fs|MAP4K4_ENST00000347699.4_Frame_Shift_Del_p.S255fs|MAP4K4_ENST00000456652.1_Intron	p.S255fs	NM_001242560.1|NM_004834.4	NP_001229489.1|NP_004825.3	O95819	M4K4_HUMAN			9	820	+			255			Protein kinase.		O75172|Q9NST7	Frame_Shift_Del	DEL	ENST00000347699.4	37	c.765delA	CCDS56130.1																																																																																				0.413	MAP4K4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000339839.1	NM_004834		7	8						7	8	---	---	---	---	-	102452432	A	-	102452432	7	5	435	1	0	1	0	1	0	0	0	0	9262	117	5	0	799	0	MAP4K4	2	102452432	Frame_Shift_Del	DEL	A	TCGA-XK-AAIW-01A-11D-A41K-08	541004	102452432	140746941	1203	22128											
MAP4K4	9448	broad.mit.edu	37	chr2	102505311	102505311	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gagagaaggccatagagatcCgatctgtggaaactggtcac	13	7	13	8	1	2	2	1	0	1	2	3	7	3	3	2	3	1	0	2	3	3	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:102505311C>T	ENST00000347699.4	+	29	3550	c.3550C>T	c.(3550-3552)Cga>Tga	p.R1184*	MAP4K4_ENST00000324219.4_Nonsense_Mutation_p.R1265*|MAP4K4_ENST00000456652.1_Nonsense_Mutation_p.R983*|MAP4K4_ENST00000350878.4_Nonsense_Mutation_p.R1224*|MAP4K4_ENST00000350198.4_Nonsense_Mutation_p.R1111*|MAP4K4_ENST00000425019.1_Nonsense_Mutation_p.R1217*|MAP4K4_ENST00000413150.2_Nonsense_Mutation_p.R1099*|MAP4K4_ENST00000302217.5_Nonsense_Mutation_p.R987*	NM_001242559.1|NM_145687.3	NP_001229488.1|NP_663720.1	O95819	M4K4_HUMAN	mitogen-activated protein kinase kinase kinase kinase 4	1184	CNH. {ECO:0000255|PROSITE- ProRule:PRU00795}.|Mediates interaction with RAP2A.				intracellular signal transduction (GO:0035556)|protein phosphorylation (GO:0006468)|regulation of JNK cascade (GO:0046328)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						CATAGAGATCCGATCTGTGGA	0.438																																						ENST00000413150.2																			0				breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						c.(3295-3297)Cga>Tga		mitogen-activated protein kinase kinase kinase kinase 4							103	102	102					2																	102505311		1885	4109	5994	SO:0001587	stop_gained	9448				intracellular protein kinase cascade|regulation of JNK cascade|response to stress	cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chr2:102505311C>T	AF096300	CCDS56130.1, CCDS74546.1	2q11.2-q12	2011-06-09			ENSG00000071054	ENSG00000071054		"Mitogen-activated protein kinase cascade / Kinase kinase kinase kinases"	6866	protein-coding gene	gene with protein product	"HPK/GCK-like kinase", "hepatocyte progenitor kinase-like/germinal center kinase-like kinase"	604666				9890973, 9734811, 9135144	Standard	NM_004834		Approved	HGK, NIK, FLH21957	uc002tbf.3	O95819	OTTHUMG00000155394	ENST00000347699.4:c.3550C>T	2.37:g.102505311C>T	ENSP00000314363:p.Arg1184*					MAP4K4_ENST00000347699.4_Nonsense_Mutation_p.R1184*|MAP4K4_ENST00000324219.4_Nonsense_Mutation_p.R1265*|MAP4K4_ENST00000350198.4_Nonsense_Mutation_p.R1111*|MAP4K4_ENST00000425019.1_Nonsense_Mutation_p.R1217*|MAP4K4_ENST00000302217.5_Nonsense_Mutation_p.R987*|MAP4K4_ENST00000350878.4_Nonsense_Mutation_p.R1224*|MAP4K4_ENST00000456652.1_Nonsense_Mutation_p.R983*	p.R1099*	NM_001242560.1|NM_004834.4	NP_001229489.1|NP_004825.3	O95819	M4K4_HUMAN			28	3350	+			1184			CNH.|Mediates interaction with RAP2A.		O75172|Q9NST7	Nonsense_Mutation	SNP	ENST00000347699.4	37	c.3295C>T	CCDS56130.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	40|40	8.510769|8.510769	0.98843|0.98843	.|.	.|.	ENSG00000071054|ENSG00000071054	ENST00000421882|ENST00000425019;ENST00000324219;ENST00000350198;ENST00000302217;ENST00000413150;ENST00000456652;ENST00000347699;ENST00000417294;ENST00000350878	.|.	.|.	.|.	5.6|5.6	5.6|5.6	0.85130|0.85130	.|.	.|0.000000	.|0.64402	.|D	.|0.000001	T|.	0.47783|.	0.1464|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.37753|.	-0.9692|.	3|.	.|0.02654	.|T	.|1	.|.	19.6237|19.6237	0.95670|0.95670	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	L|X	1000|1217;1265;1111;987;1099;983;1184;1115;1224	.|.	.|ENSP00000303600:R987X	P|R	+|+	2|1	0|2	MAP4K4|MAP4K4	101871743|101871743	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	5.976000|5.976000	0.70484|0.70484	2.631000|2.631000	0.89168|0.89168	0.650000|0.650000	0.86243|0.86243	CCG|CGA		0.438	MAP4K4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000339839.1	NM_004834		4	18	0	0	0	1	0	4	18					T	102505311	C	T	102505311	4	4	435	1	0	0	0	0	0	1	0	0	9262	644	23	2	3939	2	MAP4K4	2	102505311	Nonsense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	52879	102505311	140694062	1204	22129											
IL1R2	7850	broad.mit.edu	37	chr2	102626274	102626274	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caggaggactctggcacctaCgtctgcactactaggtaagt	10	9	11	11	1	2	0	0	0	2	0	2	2	2	2	1	4	3	3	1	4	4	4	rs142963191	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:102626274C>T	ENST00000332549.3	+	3	547	c.318C>T	c.(316-318)taC>taT	p.Y106Y	IL1R2_ENST00000441002.1_Silent_p.Y106Y|IL1R2_ENST00000393414.2_Silent_p.Y106Y	NM_004633.3	NP_004624.1	P27930	IL1R2_HUMAN	interleukin 1 receptor, type II	106	Ig-like C2-type 1.				cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	interleukin-1 receptor activity (GO:0004908)|interleukin-1, Type II, blocking receptor activity (GO:0004910)			breast(3)|endometrium(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|skin(1)	28						CTGGCACCTACGTCTGCACTA	0.597													C|||	3	0.000599042	0	0.0014	5008	,	,		17593	0		0.002	False		,,,				2504	0				Pancreas(106;189 1628 2302 5133 12295)	ENST00000332549.3																			0				breast(3)|endometrium(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|skin(1)	28						c.(316-318)taC>taT		interleukin 1 receptor, type II	Anakinra(DB00026)	C	,	2,4404	4.2+/-10.8	0,2,2201	100	106	104		318,318	2	1	2	dbSNP_134	104	24,8576	17.3+/-56.4	0,24,4276	no	coding-synonymous,coding-synonymous	IL1R2	NM_004633.3,NM_173343.1	,	0,26,6477	TT,TC,CC		0.2791,0.0454,0.1999	,	106/399,106/399	102626274	26,12980	2203	4300	6503	SO:0001819	synonymous_variant	7850				immune response	integral to membrane|plasma membrane	interleukin-1, Type II, blocking receptor activity	g.chr2:102626274C>T	X59770	CCDS2054.1, CCDS58719.1	2q12	2013-01-11			ENSG00000115590	ENSG00000115590		"Interleukins and interleukin receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5994	protein-coding gene	gene with protein product		147811		IL1RB		10191101, 1833184	Standard	NM_004633		Approved	CD121b	uc002tbm.3	P27930	OTTHUMG00000130695	ENST00000332549.3:c.318C>T	2.37:g.102626274C>T						IL1R2_ENST00000441002.1_Silent_p.Y106Y|IL1R2_ENST00000393414.2_Silent_p.Y106Y	p.Y106Y	NM_004633.3	NP_004624.1	P27930	IL1R2_HUMAN			3	547	+			106			Ig-like C2-type 1.		D3DVJ5|Q6LCE6|Q9UE68	Silent	SNP	ENST00000332549.3	37	c.318C>T	CCDS2054.1																																																																																				0.597	IL1R2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253191.1	NM_004633		32	44	0	0	0	1	0	32	44					T	102626274	C	T	102626274	2	4	435	1	0	0	0	0	0	0	0	1	7659	547	19	1		1	IL1R2	2	102626274	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	120963	102626274	140573099	1205	22130											
IL1R2	7850	broad.mit.edu	37	chr2	102641024	102641024	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgacaatcccgtgtaaggtgTttctgggaaccggcacaccc	9	9	11	12	2	1	1	0	1	1	0	2	2	2	2	3	3	1	3	3	3	3	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:102641024T>G	ENST00000332549.3	+	7	1010	c.781T>G	c.(781-783)Ttt>Gtt	p.F261V	IL1R2_ENST00000441002.1_Missense_Mutation_p.F261V|IL1R2_ENST00000393414.2_Missense_Mutation_p.F261V|IL1R2_ENST00000485335.1_3'UTR	NM_004633.3	NP_004624.1	P27930	IL1R2_HUMAN	interleukin 1 receptor, type II	261	Ig-like C2-type 3.				cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	interleukin-1 receptor activity (GO:0004908)|interleukin-1, Type II, blocking receptor activity (GO:0004910)			breast(3)|endometrium(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|skin(1)	28						GTGTAAGGTGTTTCTGGGAAC	0.612																																					Pancreas(106;189 1628 2302 5133 12295)	ENST00000332549.3																			0				breast(3)|endometrium(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|skin(1)	28						c.(781-783)Ttt>Gtt		interleukin 1 receptor, type II	Anakinra(DB00026)						80	80	80					2																	102641024		2203	4300	6503	SO:0001583	missense	7850				immune response	integral to membrane|plasma membrane	interleukin-1, Type II, blocking receptor activity	g.chr2:102641024T>G	X59770	CCDS2054.1, CCDS58719.1	2q12	2013-01-11			ENSG00000115590	ENSG00000115590		"Interleukins and interleukin receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5994	protein-coding gene	gene with protein product		147811		IL1RB		10191101, 1833184	Standard	NM_004633		Approved	CD121b	uc002tbm.3	P27930	OTTHUMG00000130695	ENST00000332549.3:c.781T>G	2.37:g.102641024T>G	ENSP00000330959:p.Phe261Val					IL1R2_ENST00000441002.1_Missense_Mutation_p.F261V|IL1R2_ENST00000393414.2_Missense_Mutation_p.F261V|IL1R2_ENST00000485335.1_3'UTR	p.F261V	NM_004633.3	NP_004624.1	P27930	IL1R2_HUMAN			7	1010	+			261			Ig-like C2-type 3.		D3DVJ5|Q6LCE6|Q9UE68	Missense_Mutation	SNP	ENST00000332549.3	37	c.781T>G	CCDS2054.1	.	.	.	.	.	.	.	.	.	.	T	24.0	4.487057	0.84854	.	.	ENSG00000115590	ENST00000332549;ENST00000393414;ENST00000441002	T;T;T	0.13089	2.62;2.62;2.62	5.87	5.87	0.94306	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin (1);Immunoglobulin-like fold (1);	0.136617	0.52532	D	0.000067	T	0.32941	0.0846	M	0.69823	2.125	0.40753	D	0.982938	D	0.65815	0.995	P	0.60789	0.879	T	0.04635	-1.0937	10	0.49607	T	0.09	.	13.8038	0.63218	0.0:0.0:0.0:1.0	.	261	P27930	IL1R2_HUMAN	V	261	ENSP00000330959:F261V;ENSP00000377066:F261V;ENSP00000414611:F261V	ENSP00000330959:F261V	F	+	1	0	IL1R2	102007456	1.000000	0.71417	1.000000	0.80357	0.803000	0.45373	4.529000	0.60588	2.248000	0.74166	0.533000	0.62120	TTT		0.612	IL1R2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253191.1	NM_004633		18	27	0	0	0	1	0	18	27					G	102641024	T	G	102641024	3	3	435	1	0	0	0	0	1	0	0	0	7659	1725	60	5	803	5	IL1R2	2	102641024	Missense_Mutation	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	14750	102641024	140558349	1206	22131											
IL1RL2	8808	broad.mit.edu	37	chr2	102849474	102849474	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccccaagccccacaaggaaaGccagaggcatgccgtggatg	12	3	12	14	1	0	1	0	0	0	1	0	3	0	3	6	3	3	1	6	3	3	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:102849474G>A	ENST00000264257.2	+	10	1313	c.1187G>A	c.(1186-1188)aGc>aAc	p.S396N	IL1RL2_ENST00000539491.1_Missense_Mutation_p.S396N|IL1RL2_ENST00000441515.2_Missense_Mutation_p.S278N|IL1RL2_ENST00000481806.1_3'UTR	NM_003854.2	NP_003845.2	Q9HB29	ILRL2_HUMAN	interleukin 1 receptor-like 2	396	TIR. {ECO:0000255|PROSITE- ProRule:PRU00204}.				cellular defense response (GO:0006968)|cytokine-mediated signaling pathway (GO:0019221)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of T cell differentiation (GO:0045582)|regulation of inflammatory response (GO:0050727)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)	interleukin-1 receptor activity (GO:0004908)|interleukin-1, Type I, activating receptor activity (GO:0004909)			breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|liver(2)|lung(8)|ovary(2)|prostate(1)	26						CACAAGGAAAGCCAGAGGCAT	0.463																																						ENST00000264257.2																			0				breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|liver(2)|lung(8)|ovary(2)|prostate(1)	26						c.(1186-1188)aGc>aAc		interleukin 1 receptor-like 2							116	110	112					2																	102849474		2203	4300	6503	SO:0001583	missense	8808				cellular defense response|innate immune response	integral to plasma membrane	interleukin-1, Type I, activating receptor activity	g.chr2:102849474G>A	U49065	CCDS2056.1	2q12	2013-01-14			ENSG00000115598	ENSG00000115598		"Interleukins and interleukin receptors", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5999	protein-coding gene	gene with protein product		604512				8898719, 10191101, 11466363	Standard	NM_003854		Approved	IL1R-rp2, IL1RRP2	uc002tbs.3	Q9HB29	OTTHUMG00000130776	ENST00000264257.2:c.1187G>A	2.37:g.102849474G>A	ENSP00000264257:p.Ser396Asn					IL1RL2_ENST00000481806.1_3'UTR|IL1RL2_ENST00000539491.1_Missense_Mutation_p.S396N|IL1RL2_ENST00000441515.2_Missense_Mutation_p.S278N	p.S396N	NM_003854.2	NP_003845.2	Q9HB29	ILRL2_HUMAN			10	1313	+			396			TIR.		A4FU63|Q13525|Q45H74|Q53TU8|Q587I8	Missense_Mutation	SNP	ENST00000264257.2	37	c.1187G>A	CCDS2056.1	.	.	.	.	.	.	.	.	.	.	G	12.15	1.852769	0.32699	.	.	ENSG00000115598	ENST00000264257;ENST00000441515;ENST00000539491	T;T;T	0.03860	4.03;3.78;4.03	5.93	3.16	0.36331	Toll/interleukin-1 receptor homology (TIR) domain (4);	0.625233	0.18274	N	0.146230	T	0.13329	0.0323	M	0.69823	2.125	0.35561	D	0.80466	D;D	0.61697	0.979;0.99	P;D	0.64877	0.864;0.93	T	0.25257	-1.0137	10	0.24483	T	0.36	.	5.2084	0.15302	0.0683:0.1287:0.5363:0.2668	.	278;396	A4FU63;Q9HB29	.;ILRL2_HUMAN	N	396;278;396	ENSP00000264257:S396N;ENSP00000413348:S278N;ENSP00000442184:S396N	ENSP00000264257:S396N	S	+	2	0	IL1RL2	102215906	0.000000	0.05858	0.827000	0.32855	0.181000	0.23173	0.098000	0.15189	0.400000	0.25396	-0.127000	0.14921	AGC		0.463	IL1RL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253290.1	NM_003854		33	39	0	0	0	1	0	33	39					A	102849474	G	A	102849474	3	1	435	1	0	0	0	0	1	0	0	0	7664	971	34	3	1221	3	IL1RL2	2	102849474	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	208450	102849474	140349899	1207	22132											
IL18RAP	8807	broad.mit.edu	37	chr2	103053706	103053706	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctctgtggaaaggagcaaccGaatcgtagtggatgaagttt	12	10	13	6	2	1	1	0	1	1	0	2	5	1	4	1	3	2	3	1	3	5	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:103053706G>A	ENST00000264260.2	+	6	1203	c.614G>A	c.(613-615)cGa>cAa	p.R205Q	IL18RAP_ENST00000409369.1_Missense_Mutation_p.R63Q|AC007278.2_ENST00000436582.1_RNA|AC007278.3_ENST00000450893.1_RNA	NM_003853.2	NP_003844.1	O95256	I18RA_HUMAN	interleukin 18 receptor accessory protein	205	Ig-like C2-type 1.				cell surface receptor signaling pathway (GO:0007166)|immune response (GO:0006955)|inflammatory response (GO:0006954)	integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(4)	37						AGGAGCAACCGAATCGTAGTG	0.383																																						ENST00000264260.2																			0				autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(4)	37						c.(613-615)cGa>cAa		interleukin 18 receptor accessory protein							124	104	111					2																	103053706		2203	4300	6503	SO:0001583	missense	8807				cell surface receptor linked signaling pathway|inflammatory response|innate immune response	integral to membrane	transmembrane receptor activity	g.chr2:103053706G>A	AF077346	CCDS2061.1	2q12.1	2013-01-11			ENSG00000115607	ENSG00000115607		"Interleukins and interleukin receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5989	protein-coding gene	gene with protein product		604509				9792649	Standard	XM_005264034		Approved	AcPL, CD218b	uc002tbx.3	O95256	OTTHUMG00000130777	ENST00000264260.2:c.614G>A	2.37:g.103053706G>A	ENSP00000264260:p.Arg205Gln					IL18RAP_ENST00000409369.1_Missense_Mutation_p.R63Q	p.R205Q	NM_003853.2	NP_003844.1	O95256	I18RA_HUMAN			6	1203	+			205			Ig-like C2-type 1.		B2RPJ3|Q3KPE7|Q3KPE8|Q53TT4|Q53TU5	Missense_Mutation	SNP	ENST00000264260.2	37	c.614G>A	CCDS2061.1	.	.	.	.	.	.	.	.	.	.	G	6.963	0.547621	0.13312	.	.	ENSG00000115607	ENST00000264260;ENST00000409369	T;T	0.77620	-1.11;-1.11	5.82	-0.759	0.11045	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	1.007360	0.07967	N	0.983328	T	0.49012	0.1532	N	0.03608	-0.345	0.09310	N	1	B	0.16802	0.019	B	0.14578	0.011	T	0.36187	-0.9758	10	0.15499	T	0.54	.	3.9786	0.09486	0.2601:0.2678:0.3928:0.0793	.	205	O95256	I18RA_HUMAN	Q	205;63	ENSP00000264260:R205Q;ENSP00000387201:R63Q	ENSP00000264260:R205Q	R	+	2	0	IL18RAP	102420138	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.189000	0.17037	0.369000	0.24510	-1.468000	0.01013	CGA		0.383	IL18RAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253291.2	NM_003853		18	43	0	0	0	1	0	18	43					A	103053706	G	A	103053706	3	1	435	1	0	0	0	0	1	0	0	0	7648	1058	37	2	628	2	IL18RAP	2	103053706	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	204232	103053706	140145667	1208	22133											
IL18RAP	8807	broad.mit.edu	37	chr2	103061730	103061730	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagcgtgatcttcgcaggaaGtttgtttgctttgtccagaa	8	14	11	8	2	1	2	0	1	1	1	3	3	2	3	1	1	2	4	1	1	2	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:103061730G>A	ENST00000264260.2	+	9	1591	c.1002G>A	c.(1000-1002)aaG>aaA	p.K334K	IL18RAP_ENST00000409369.1_Silent_p.K192K	NM_003853.2	NP_003844.1	O95256	I18RA_HUMAN	interleukin 18 receptor accessory protein	334	Ig-like C2-type 2.				cell surface receptor signaling pathway (GO:0007166)|immune response (GO:0006955)|inflammatory response (GO:0006954)	integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(4)	37						TTCGCAGGAAGTTTGTTTGCT	0.423																																						ENST00000264260.2																			0				autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(4)	37						c.(1000-1002)aaG>aaA		interleukin 18 receptor accessory protein							119	110	113					2																	103061730		2203	4300	6503	SO:0001819	synonymous_variant	8807				cell surface receptor linked signaling pathway|inflammatory response|innate immune response	integral to membrane	transmembrane receptor activity	g.chr2:103061730G>A	AF077346	CCDS2061.1	2q12.1	2013-01-11			ENSG00000115607	ENSG00000115607		"Interleukins and interleukin receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5989	protein-coding gene	gene with protein product		604509				9792649	Standard	XM_005264034		Approved	AcPL, CD218b	uc002tbx.3	O95256	OTTHUMG00000130777	ENST00000264260.2:c.1002G>A	2.37:g.103061730G>A						IL18RAP_ENST00000409369.1_Silent_p.K192K	p.K334K	NM_003853.2	NP_003844.1	O95256	I18RA_HUMAN			9	1591	+			334			Ig-like C2-type 2.		B2RPJ3|Q3KPE7|Q3KPE8|Q53TT4|Q53TU5	Silent	SNP	ENST00000264260.2	37	c.1002G>A	CCDS2061.1																																																																																				0.423	IL18RAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253291.2	NM_003853		13	33	0	0	0	1	0	13	33					A	103061730	G	A	103061730	2	1	435	1	0	0	0	0	0	0	0	1	7648	1020	36	3		3	IL18RAP	2	103061730	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	8024	103061730	140137643	1209	22134											
IL18RAP	8807	broad.mit.edu	37	chr2	103067347	103067347	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tttcgtatcctatgcaaaatGgagctcttttccaagtgagg	10	14	9	8	1	1	1	0	1	1	0	4	2	3	2	2	2	2	3	2	2	5	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:103067347G>T	ENST00000264260.2	+	11	1839	c.1250G>T	c.(1249-1251)tGg>tTg	p.W417L	IL18RAP_ENST00000409369.1_Missense_Mutation_p.W275L	NM_003853.2	NP_003844.1	O95256	I18RA_HUMAN	interleukin 18 receptor accessory protein	417	TIR. {ECO:0000255|PROSITE- ProRule:PRU00204}.				cell surface receptor signaling pathway (GO:0007166)|immune response (GO:0006955)|inflammatory response (GO:0006954)	integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(4)	37						TATGCAAAATGGAGCTCTTTT	0.343																																						ENST00000264260.2																			0				autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(4)	37						c.(1249-1251)tGg>tTg		interleukin 18 receptor accessory protein							103	113	110					2																	103067347		2203	4300	6503	SO:0001583	missense	8807				cell surface receptor linked signaling pathway|inflammatory response|innate immune response	integral to membrane	transmembrane receptor activity	g.chr2:103067347G>T	AF077346	CCDS2061.1	2q12.1	2013-01-11			ENSG00000115607	ENSG00000115607		"Interleukins and interleukin receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5989	protein-coding gene	gene with protein product		604509				9792649	Standard	XM_005264034		Approved	AcPL, CD218b	uc002tbx.3	O95256	OTTHUMG00000130777	ENST00000264260.2:c.1250G>T	2.37:g.103067347G>T	ENSP00000264260:p.Trp417Leu					IL18RAP_ENST00000409369.1_Missense_Mutation_p.W275L	p.W417L	NM_003853.2	NP_003844.1	O95256	I18RA_HUMAN			11	1839	+			417			TIR.		B2RPJ3|Q3KPE7|Q3KPE8|Q53TT4|Q53TU5	Missense_Mutation	SNP	ENST00000264260.2	37	c.1250G>T	CCDS2061.1	.	.	.	.	.	.	.	.	.	.	G	0.048	-1.258292	0.01445	.	.	ENSG00000115607	ENST00000264260;ENST00000409369	T;T	0.07567	3.18;3.18	5.58	-2.39	0.06602	Toll/interleukin-1 receptor homology (TIR) domain (4);	1.113080	0.06696	N	0.770494	T	0.05227	0.0139	L	0.33137	0.985	0.09310	N	1	B	0.15719	0.014	B	0.15870	0.014	T	0.46091	-0.9216	10	0.11485	T	0.65	.	3.5781	0.07942	0.1101:0.3972:0.1406:0.3521	.	417	O95256	I18RA_HUMAN	L	417;275	ENSP00000264260:W417L;ENSP00000387201:W275L	ENSP00000264260:W417L	W	+	2	0	IL18RAP	102433779	0.000000	0.05858	0.003000	0.11579	0.117000	0.20001	-0.695000	0.05109	-0.114000	0.11936	-0.150000	0.13652	TGG		0.343	IL18RAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253291.2	NM_003853		4	94	1	0	0.00024832	1	0.000253518	4	94					T	103067347	G	T	103067347	3	4	435	1	0	0	0	0	1	0	0	0	7648	1357	47	5	1284	5	IL18RAP	2	103067347	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	5617	103067347	140132026	1210	22135											
MRPS9	64965	broad.mit.edu	37	chr2	105713699	105713699	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctcagggggcgggaggtcagCgcaggctggagcaatacgac	9	4	18	10	3	2	0	2	0	0	0	2	3	2	2	0	6	3	3	0	6	2	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:105713699C>T	ENST00000258455.3	+	10	1126	c.1016C>T	c.(1015-1017)gCg>gTg	p.A339V	AC104655.2_ENST00000449177.1_RNA|AC104655.2_ENST00000432211.1_RNA	NM_182640.2	NP_872578.1	P82933	RT09_HUMAN	mitochondrial ribosomal protein S9	339					DNA damage response, detection of DNA damage (GO:0042769)|peptide biosynthetic process (GO:0043043)|translation (GO:0006412)	mitochondrial small ribosomal subunit (GO:0005763)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	18						GGGAGGTCAGCGCAGGCTGGA	0.562																																						ENST00000258455.3																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	18						c.(1015-1017)gCg>gTg		mitochondrial ribosomal protein S9							105	92	97					2																	105713699		2203	4300	6503	SO:0001583	missense	64965				DNA damage response, detection of DNA damage|translation	mitochondrial small ribosomal subunit	protein binding|structural constituent of ribosome	g.chr2:105713699C>T		CCDS2065.1	2q12.1	2012-09-13			ENSG00000135972	ENSG00000135972		"Mitochondrial ribosomal proteins / small subunits"	14501	protein-coding gene	gene with protein product	"28S ribosomal protein S9, mitochondrial"	611975				11279123	Standard	NM_182640		Approved	RPMS9, MRP-S9, S9mt	uc002tcn.4	P82933	OTTHUMG00000130807	ENST00000258455.3:c.1016C>T	2.37:g.105713699C>T	ENSP00000258455:p.Ala339Val					AC104655.2_ENST00000432211.1_RNA|AC104655.2_ENST00000449177.1_RNA	p.A339V	NM_182640.2	NP_872578.1	P82933	RT09_HUMAN			10	1126	+			339					Q6PG40	Missense_Mutation	SNP	ENST00000258455.3	37	c.1016C>T	CCDS2065.1	.	.	.	.	.	.	.	.	.	.	C	18.72	3.683635	0.68157	.	.	ENSG00000135972	ENST00000258455	T	0.52526	0.66	5.92	5.05	0.67936	Ribosomal protein S5 domain 2-type fold (1);Ribosomal protein S9, conserved site (1);Ribosomal protein S5 domain 2-type fold, subgroup (1);	0.476444	0.24530	N	0.037726	T	0.62539	0.2436	M	0.80616	2.505	0.09310	N	1	D	0.55385	0.971	P	0.51615	0.675	T	0.62243	-0.6895	10	0.87932	D	0	-2.791	15.2992	0.73933	0.0:0.9329:0.0:0.0671	.	339	P82933	RT09_HUMAN	V	339	ENSP00000258455:A339V	ENSP00000258455:A339V	A	+	2	0	MRPS9	105080131	0.375000	0.25089	0.116000	0.21606	0.954000	0.61252	3.526000	0.53509	1.509000	0.48786	0.655000	0.94253	GCG		0.562	MRPS9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253352.1	NM_182640		20	28	0	0	0	1	0	20	28					T	105713699	C	T	105713699	3	4	435	1	0	0	0	0	1	0	0	0	9849	768	27	1	1054	1	MRPS9	2	105713699	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	2646352	105713699	137485674	1211	22136											
GPR45	11250	broad.mit.edu	37	chr2	105858660	105858660	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ctctcagccacgctctactgGttttttgtcctggagggcgt	4	14	11	12	2	2	0	1	0	2	0	4	1	3	1	2	3	2	2	2	3	1	4	rs112707014		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:105858660G>T	ENST00000258456.1	+	1	461	c.345G>T	c.(343-345)tgG>tgT	p.W115C		NM_007227.3	NP_009158.3	Q9Y5Y3	GPR45_HUMAN	G protein-coupled receptor 45	115						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	28						CGCTCTACTGGTTTTTTGTCC	0.627																																						ENST00000258456.1																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	28						c.(343-345)tgG>tgT		G protein-coupled receptor 45							73	74	74					2																	105858660		2203	4300	6503	SO:0001583	missense	11250					integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding	g.chr2:105858660G>T	AF118266	CCDS2066.1	2q11.1-q12	2012-08-21			ENSG00000135973	ENSG00000135973		"GPCR / Class A : Orphans"	4503	protein-coding gene	gene with protein product		604838				10036181	Standard	NM_007227		Approved	PSP24, PSP24A	uc002tco.1	Q9Y5Y3	OTTHUMG00000130805	ENST00000258456.1:c.345G>T	2.37:g.105858660G>T	ENSP00000258456:p.Trp115Cys						p.W115C	NM_007227.3	NP_009158.3	Q9Y5Y3	GPR45_HUMAN			1	461	+			115					Q6NWS4|Q6NXU6	Missense_Mutation	SNP	ENST00000258456.1	37	c.345G>T	CCDS2066.1	.	.	.	.	.	.	.	.	.	.	G	17.30	3.355893	0.61293	.	.	ENSG00000135973	ENST00000258456	T	0.71341	-0.56	5.04	5.04	0.67666	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.81992	0.4940	M	0.72479	2.2	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	D	0.83644	0.0152	10	0.66056	D	0.02	-18.4725	12.7943	0.57551	0.0821:0.0:0.9179:0.0	.	115	Q9Y5Y3	GPR45_HUMAN	C	115	ENSP00000258456:W115C	ENSP00000258456:W115C	W	+	3	0	GPR45	105225092	1.000000	0.71417	0.998000	0.56505	0.948000	0.59901	5.654000	0.67974	2.337000	0.79520	0.462000	0.41574	TGG		0.627	GPR45-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253348.1	NM_007227		9	35	1	0	1.12685e-05	1	1.16601e-05	9	35					T	105858660	G	T	105858660	3	4	435	1	0	0	0	0	1	0	0	0	6696	1270	44	5	347	5	GPR45	2	105858660	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	144961	105858660	137340713	1212	22137											
GPR45	11250	broad.mit.edu	37	chr2	105858688	105858688	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctggagggcgtggccatcCtgctcatcatcagcgtggac	6	9	13	13	2	3	0	3	0	0	0	5	2	5	2	3	4	2	1	3	4	0	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:105858688C>A	ENST00000258456.1	+	1	489	c.373C>A	c.(373-375)Ctg>Atg	p.L125M		NM_007227.3	NP_009158.3	Q9Y5Y3	GPR45_HUMAN	G protein-coupled receptor 45	125						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	28						CGTGGCCATCCTGCTCATCAT	0.627																																						ENST00000258456.1																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	28						c.(373-375)Ctg>Atg		G protein-coupled receptor 45							68	65	66					2																	105858688		2203	4300	6503	SO:0001583	missense	11250					integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding	g.chr2:105858688C>A	AF118266	CCDS2066.1	2q11.1-q12	2012-08-21			ENSG00000135973	ENSG00000135973		"GPCR / Class A : Orphans"	4503	protein-coding gene	gene with protein product		604838				10036181	Standard	NM_007227		Approved	PSP24, PSP24A	uc002tco.1	Q9Y5Y3	OTTHUMG00000130805	ENST00000258456.1:c.373C>A	2.37:g.105858688C>A	ENSP00000258456:p.Leu125Met						p.L125M	NM_007227.3	NP_009158.3	Q9Y5Y3	GPR45_HUMAN			1	489	+			125					Q6NWS4|Q6NXU6	Missense_Mutation	SNP	ENST00000258456.1	37	c.373C>A	CCDS2066.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.029656	0.75504	.	.	ENSG00000135973	ENST00000258456	T	0.80994	-1.44	5.04	4.15	0.48705	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000006	D	0.89924	0.6856	M	0.86420	2.815	0.58432	D	0.999997	D	0.89917	1.0	D	0.91635	0.999	D	0.91347	0.5101	10	0.87932	D	0	-14.8009	12.6972	0.57010	0.0:0.916:0.0:0.084	.	125	Q9Y5Y3	GPR45_HUMAN	M	125	ENSP00000258456:L125M	ENSP00000258456:L125M	L	+	1	2	GPR45	105225120	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.782000	0.62396	2.337000	0.79520	0.462000	0.41574	CTG		0.627	GPR45-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253348.1	NM_007227		15	17	1	0	4.14922e-12	1	4.48033e-12	15	17					A	105858688	C	A	105858688	3	1	435	1	0	0	0	0	1	0	0	0	6696	680	24	5	375	5	GPR45	2	105858688	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	28	105858688	137340685	1213	22138											
GPR45	11250	broad.mit.edu	37	chr2	105858891	105858891	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tacacggagctccccgctgaCcgcgcctacgtggtcacctt	6	8	10	17	5	1	1	1	1	0	0	2	2	2	2	5	2	3	2	5	2	2	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:105858891C>T	ENST00000258456.1	+	1	692	c.576C>T	c.(574-576)gaC>gaT	p.D192D		NM_007227.3	NP_009158.3	Q9Y5Y3	GPR45_HUMAN	G protein-coupled receptor 45	192						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	28						TCCCCGCTGACCGCGCCTACG	0.682																																						ENST00000258456.1																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	28						c.(574-576)gaC>gaT		G protein-coupled receptor 45							34	31	32					2																	105858891		2203	4300	6503	SO:0001819	synonymous_variant	11250					integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding	g.chr2:105858891C>T	AF118266	CCDS2066.1	2q11.1-q12	2012-08-21			ENSG00000135973	ENSG00000135973		"GPCR / Class A : Orphans"	4503	protein-coding gene	gene with protein product		604838				10036181	Standard	NM_007227		Approved	PSP24, PSP24A	uc002tco.1	Q9Y5Y3	OTTHUMG00000130805	ENST00000258456.1:c.576C>T	2.37:g.105858891C>T							p.D192D	NM_007227.3	NP_009158.3	Q9Y5Y3	GPR45_HUMAN			1	692	+			192					Q6NWS4|Q6NXU6	Silent	SNP	ENST00000258456.1	37	c.576C>T	CCDS2066.1																																																																																				0.682	GPR45-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253348.1	NM_007227		9	15	0	0	0	1	0	9	15					T	105858891	C	T	105858891	2	4	435	1	0	0	0	0	0	0	0	1	6696	506	18	3		3	GPR45	2	105858891	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	203	105858891	137340482	1214	22139											
TGFBRAP1	9392	broad.mit.edu	37	chr2	105924480	105924480	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctgatggagttgtcacacagCaccagcagcctgttgagtgc	9	9	12	11	0	1	2	1	2	0	0	1	3	1	3	2	1	4	4	2	1	0	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:105924480C>T	ENST00000393359.2	-	2	705	c.279G>A	c.(277-279)gtG>gtA	p.V93V	TGFBRAP1_ENST00000258449.1_Silent_p.V93V			Q8WUH2	TGFA1_HUMAN	transforming growth factor, beta receptor associated protein 1	93	CNH. {ECO:0000255|PROSITE- ProRule:PRU00795}.				intracellular protein transport (GO:0006886)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transforming growth factor beta receptor signaling pathway (GO:0007179)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|membrane (GO:0016020)	SMAD binding (GO:0046332)|small GTPase regulator activity (GO:0005083)|transforming growth factor beta receptor binding (GO:0005160)			central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	31						TGTCACACAGCACCAGCAGCC	0.602																																					Esophageal Squamous(183;794 2019 9730 21801 48859)	ENST00000393359.2																			0				central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	31						c.(277-279)gtG>gtA		transforming growth factor, beta receptor associated protein 1							40	39	39					2																	105924480		2203	4300	6503	SO:0001819	synonymous_variant	9392				regulation of transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway	cytoplasm|membrane	SMAD binding|small GTPase regulator activity|transforming growth factor beta receptor binding	g.chr2:105924480C>T	AF022795	CCDS2067.1	2q12.1	2008-02-05			ENSG00000135966	ENSG00000135966			16836	protein-coding gene	gene with protein product		606237				9545258, 11278302	Standard	NM_001142621		Approved	TRAP-1, TRAP1	uc002tcr.4	Q8WUH2	OTTHUMG00000130809	ENST00000393359.2:c.279G>A	2.37:g.105924480C>T						TGFBRAP1_ENST00000258449.1_Silent_p.V93V	p.V93V			Q8WUH2	TGFA1_HUMAN			2	705	-			93			CNH.		A8K5R7|D3DVJ8|O60466	Silent	SNP	ENST00000393359.2	37	c.279G>A	CCDS2067.1																																																																																				0.602	TGFBRAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253354.2	NM_004257		7	38	0	0	0	1	0	7	38					T	105924480	C	T	105924480	2	4	435	1	0	0	0	0	0	0	0	1	15821	697	25	3		3	TGFBRAP1	2	105924480	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	65589	105924480	137274893	1215	22140											
C2orf49	79074	broad.mit.edu	37	chr2	105959571	105959571	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	taaacagaaccatgacttaaCgcataggaaaagtccttcag	17	8	7	9	1	1	2	1	1	0	1	2	3	2	3	2	1	3	1	2	1	7	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:105959571C>T	ENST00000258457.2	+	3	762	c.533C>T	c.(532-534)aCg>aTg	p.T178M	C2orf49_ENST00000437250.2_Missense_Mutation_p.T174M|C2orf49_ENST00000410049.1_Missense_Mutation_p.T136M			Q9BVC5	ASHWN_HUMAN	chromosome 2 open reading frame 49	178					embryonic morphogenesis (GO:0048598)	tRNA-splicing ligase complex (GO:0072669)				endometrium(1)|kidney(1)|large_intestine(3)|lung(1)	6						CATGACTTAACGCATAGGAAA	0.438																																						ENST00000258457.2																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(1)	6						c.(532-534)aCg>aTg		chromosome 2 open reading frame 49							120	113	116					2																	105959571		2203	4300	6503	SO:0001583	missense	79074					tRNA-splicing ligase complex		g.chr2:105959571C>T	BC001310	CCDS2068.1, CCDS74550.1	2q12.2	2009-04-22			ENSG00000135974	ENSG00000135974			28772	protein-coding gene	gene with protein product	"ashwin"					12477932	Standard	NM_001286537		Approved	MGC5509, asw	uc002tcs.1	Q9BVC5	OTTHUMG00000130808	ENST00000258457.2:c.533C>T	2.37:g.105959571C>T	ENSP00000258457:p.Thr178Met					C2orf49_ENST00000437250.2_Missense_Mutation_p.T174M|C2orf49_ENST00000410049.1_Missense_Mutation_p.T136M	p.T178M			Q9BVC5	ASHWN_HUMAN			3	762	+			178					B3KXN3|B4E2G9	Missense_Mutation	SNP	ENST00000258457.2	37	c.533C>T	CCDS2068.1	.	.	.	.	.	.	.	.	.	.	C	9.550	1.115566	0.20795	.	.	ENSG00000135974	ENST00000258457;ENST00000437250;ENST00000410049	T;T;T	0.45668	1.0;0.89;0.89	5.62	-2.82	0.05787	.	1.145180	0.06057	N	0.657645	T	0.13756	0.0333	N	0.02011	-0.69	0.20821	N	0.999849	B;B	0.06786	0.001;0.001	B;B	0.04013	0.001;0.001	T	0.14671	-1.0464	10	0.23302	T	0.38	0.1617	1.8432	0.03154	0.1166:0.208:0.2921:0.3834	.	174;178	B4E2G9;Q9BVC5	.;ASHWN_HUMAN	M	178;174;136	ENSP00000258457:T178M;ENSP00000400208:T174M;ENSP00000386361:T136M	ENSP00000258457:T178M	T	+	2	0	C2orf49	105326003	0.039000	0.19947	0.677000	0.29947	0.962000	0.63368	-0.034000	0.12225	-0.180000	0.10637	-0.781000	0.03364	ACG		0.438	C2orf49-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253353.2	NM_024093		24	51	0	0	0	1	0	24	51					T	105959571	C	T	105959571	3	4	435	1	0	0	0	0	1	0	0	0	2171	536	19	1	543	1	C2orf49	2	105959571	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	35091	105959571	137239802	1216	22141											
RGPD3	653489	broad.mit.edu	37	chr2	107041595	107041595	+	Frame_Shift_Del	DEL	T	T	-																															gagcctgtaagccagtatcaTtttcaagaggcttttcactt																										TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:107041595delT	ENST00000409886.3	-	20	2915	c.2828delA	c.(2827-2829)aatfs	p.N943fs	RGPD3_ENST00000304514.7_Frame_Shift_Del_p.N943fs	NM_001144013.1	NP_001137485.1	A6NKT7	RGPD3_HUMAN	RANBP2-like and GRIP domain containing 3	943					protein targeting to Golgi (GO:0000042)					breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						GCCAGTATCATTTTCAAGAGG	0.418																																						ENST00000409886.3																			0				breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						c.(2827-2829)atfs		RANBP2-like and GRIP domain containing 3							185	142	155					2																	107041595		692	1590	2282	SO:0001589	frameshift_variant	653489				intracellular transport		binding	g.chr2:107041595delT		CCDS46379.1	2q12.2	2013-01-10			ENSG00000153165	ENSG00000153165		"Tetratricopeptide (TTC) repeat domain containing"	32416	protein-coding gene	gene with protein product		612706				15710750, 15815621	Standard	NM_001144013		Approved	RGP3	uc010ywi.1	A6NKT7	OTTHUMG00000153182	ENST00000409886.3:c.2828delA	2.37:g.107041595delT	ENSP00000386588:p.Asn943fs					RGPD3_ENST00000304514.7_Frame_Shift_Del_p.N943fs	p.N943fs	NM_001144013.1	NP_001137485.1	A6NKT7	RGPD3_HUMAN			20	2915	-			943					B8ZZM4	Frame_Shift_Del	DEL	ENST00000409886.3	37	c.2828delA	CCDS46379.1																																																																																				0.418	RGPD3-002	KNOWN	not_best_in_genome_evidence|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000329975.1	XM_929931		24	507						24	507	---	---	---	---	-	107041595	T	-	107041595	7	5	435	1	0	1	0	1	0	0	0	0	13287	1493	52	0	2464	0	RGPD3	2	107041595	Frame_Shift_Del	DEL	T	TCGA-XK-AAIW-01A-11D-A41K-08	1082024	107041595	136157778	1217	22142											
RGPD4	285190	broad.mit.edu	37	chr2	108489163	108489163	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	caacagttctgccactgggtCtttgtttggatttagtttta	7	18	9	7	0	2	0	0	0	2	0	2	1	2	1	1	2	2	3	1	2	3	7			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:108489163C>T	ENST00000408999.3	+	20	4780	c.4703C>T	c.(4702-4704)tCt>tTt	p.S1568F	RGPD4_ENST00000354986.4_Missense_Mutation_p.S1568F	NM_182588.2	NP_872394.2	Q7Z3J3	RGPD4_HUMAN	RANBP2-like and GRIP domain containing 4	1568					protein targeting to Golgi (GO:0000042)					breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3)	43						GCCACTGGGTCTTTGTTTGGA	0.353																																						ENST00000408999.3																			0				breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3)	43						c.(4702-4704)tCt>tTt		RANBP2-like and GRIP domain containing 4							76	68	70					2																	108489163		692	1591	2283	SO:0001583	missense	285190				intracellular transport		binding	g.chr2:108489163C>T	BX537861	CCDS46381.1	2q12.3	2013-01-10			ENSG00000196862	ENSG00000196862		"Tetratricopeptide (TTC) repeat domain containing"	32417	protein-coding gene	gene with protein product		612707				15710750, 15815621	Standard	NM_182588		Approved	RGP4, DKFZp686P0288	uc010ywk.2	Q7Z3J3	OTTHUMG00000153208	ENST00000408999.3:c.4703C>T	2.37:g.108489163C>T	ENSP00000386810:p.Ser1568Phe					RGPD4_ENST00000354986.4_Missense_Mutation_p.S1568F	p.S1568F	NM_182588.2	NP_872394.2	Q7Z3J3	RGPD4_HUMAN			20	4780	+			1568					B9A029	Missense_Mutation	SNP	ENST00000408999.3	37	c.4703C>T	CCDS46381.1	.	.	.	.	.	.	.	.	.	.	-	11.57	1.677759	0.29783	.	.	ENSG00000196862	ENST00000354986;ENST00000408999	T;T	0.44881	0.91;0.91	2.33	2.33	0.28932	.	.	.	.	.	T	0.59569	0.2203	M	0.66939	2.045	0.29426	N	0.860208	D	0.71674	0.998	D	0.71870	0.975	T	0.55970	-0.8056	9	0.87932	D	0	-25.7538	11.5771	0.50869	0.0:1.0:0.0:0.0	.	1568	Q7Z3J3	RGPD4_HUMAN	F	1568	ENSP00000347081:S1568F;ENSP00000386810:S1568F	ENSP00000347081:S1568F	S	+	2	0	RGPD4	107855595	1.000000	0.71417	1.000000	0.80357	0.332000	0.28634	6.013000	0.70776	1.303000	0.44873	0.162000	0.16502	TCT		0.353	RGPD4-001	NOVEL	not_best_in_genome_evidence|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000330096.2	XM_496581		74	130	0	0	0	1	0	74	130					T	108489163	C	T	108489163	3	4	435	1	0	0	0	0	1	0	0	0	13288	913	32	3	4781	3	RGPD4	2	108489163	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	1447568	108489163	134710210	1218	22143											
SLC5A7	60482	broad.mit.edu	37	chr2	108624992	108624992	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagacatgattttaccaattGttctgcagtatctctgccct	9	15	6	11	0	2	2	0	1	2	1	3	2	2	2	2	0	3	3	2	0	3	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:108624992G>A	ENST00000264047.2	+	8	1243	c.967G>A	c.(967-969)Gtt>Att	p.V323I	SLC5A7_ENST00000409059.1_Missense_Mutation_p.V323I|SLC5A7_ENST00000540517.1_Missense_Mutation_p.V218I	NM_021815.2	NP_068587.1	Q9GZV3	SC5A7_HUMAN	solute carrier family 5 (sodium/choline cotransporter), member 7	323					acetylcholine biosynthetic process (GO:0008292)|cell death (GO:0008219)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter secretion (GO:0007269)|synaptic transmission (GO:0007268)|synaptic transmission, cholinergic (GO:0007271)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	choline binding (GO:0033265)|choline transmembrane transporter activity (GO:0015220)|choline:sodium symporter activity (GO:0005307)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	49					Choline(DB00122)	TTTACCAATTGTTCTGCAGTA	0.423																																						ENST00000264047.2																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						c.(967-969)Gtt>Att		solute carrier family 5 (sodium/choline cotransporter), member 7	Choline(DB00122)						220	188	199					2																	108624992		2203	4300	6503	SO:0001583	missense	60482				acetylcholine biosynthetic process|neurotransmitter secretion	integral to membrane|plasma membrane	choline:sodium symporter activity	g.chr2:108624992G>A	AF276871	CCDS2074.1	2q12	2013-07-19	2013-07-19		ENSG00000115665	ENSG00000115665		"Solute carriers"	14025	protein-coding gene	gene with protein product		608761	"solute carrier family 5 (choline transporter), member 7"			11027560	Standard	NM_021815		Approved	hCHT, CHT1	uc002tdv.3	Q9GZV3	OTTHUMG00000130959	ENST00000264047.2:c.967G>A	2.37:g.108624992G>A	ENSP00000264047:p.Val323Ile					SLC5A7_ENST00000409059.1_Missense_Mutation_p.V323I|SLC5A7_ENST00000540517.1_Missense_Mutation_p.V218I	p.V323I	NM_021815.2	NP_068587.1	Q9GZV3	SC5A7_HUMAN			8	1243	+			323					Q53TF2	Missense_Mutation	SNP	ENST00000264047.2	37	c.967G>A	CCDS2074.1	.	.	.	.	.	.	.	.	.	.	G	35	5.495815	0.96355	.	.	ENSG00000115665	ENST00000409059;ENST00000540517;ENST00000264047	D;D;D	0.87571	-2.27;-2.27;-2.27	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	D	0.92430	0.7597	M	0.71871	2.18	0.80722	D	1	P	0.39551	0.678	P	0.54706	0.759	D	0.91063	0.4887	10	0.48119	T	0.1	-31.6612	20.1253	0.97977	0.0:0.0:1.0:0.0	.	323	Q9GZV3	SC5A7_HUMAN	I	323;218;323	ENSP00000387346:V323I;ENSP00000445351:V218I;ENSP00000264047:V323I	ENSP00000264047:V323I	V	+	1	0	SLC5A7	107991424	1.000000	0.71417	0.951000	0.38953	0.995000	0.86356	9.813000	0.99286	2.832000	0.97577	0.655000	0.94253	GTT		0.423	SLC5A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253562.1			26	29	0	0	0	1	0	26	29					A	108624992	G	A	108624992	3	1	435	1	0	0	0	0	1	0	0	0	14670	1377	48	3	993	3	SLC5A7	2	108624992	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	135829	108624992	134574381	1219	22144											
LIMS1	3987	broad.mit.edu	37	chr2	109292448	109292448	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgacggcccatcgaagggcgCgtggtgaacgctatgggcaa	9	5	16	11	6	0	1	0	1	0	0	1	3	0	1	1	4	1	2	1	4	4	1	rs111779374		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:109292448C>T	ENST00000393310.1	+	6	776	c.609C>T	c.(607-609)cgC>cgT	p.R203R	AC010095.5_ENST00000411710.1_RNA|LIMS1_ENST00000542845.1_Silent_p.R265R|LIMS1_ENST00000409441.1_Silent_p.R240R|LIMS1_ENST00000410093.1_Silent_p.R207R|LIMS1_ENST00000332345.6_Silent_p.R203R|LIMS1_ENST00000338045.3_Silent_p.R203R|LIMS1_ENST00000544547.1_Silent_p.R215R	NM_001193488.1	NP_001180417.1	P48059	LIMS1_HUMAN	LIM and senescent cell antigen-like domains 1	203	LIM zinc-binding 4. {ECO:0000255|PROSITE- ProRule:PRU00125}.				cell aging (GO:0007569)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cell-matrix adhesion (GO:0007160)|cellular response to transforming growth factor beta stimulus (GO:0071560)|chordate embryonic development (GO:0043009)|establishment or maintenance of cell polarity (GO:0007163)|negative regulation of apoptotic process (GO:0043066)|negative regulation of hepatocyte proliferation (GO:2000346)|negative regulation of neural precursor cell proliferation (GO:2000178)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of integrin-mediated signaling pathway (GO:2001046)|protein heterooligomerization (GO:0051291)|single organismal cell-cell adhesion (GO:0016337)	cytosol (GO:0005829)|focal adhesion (GO:0005925)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	10						TCGAAGGGCGCGTGGTGAACG	0.537													C|||	1	0.000199681	8e-04	0	5008	,	,		19736	0		0	False		,,,				2504	0					ENST00000393310.1																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	10						c.(607-609)cgC>cgT		LIM and senescent cell antigen-like domains 1							43	38	40					2																	109292448		2203	4300	6503	SO:0001819	synonymous_variant	3987				cell aging|cell junction assembly|cellular response to transforming growth factor beta stimulus|negative regulation of transcription, DNA-dependent	cytosol|focal adhesion|perinuclear region of cytoplasm	protein binding|zinc ion binding	g.chr2:109292448C>T		CCDS2078.1, CCDS54382.1, CCDS54383.1, CCDS54384.1, CCDS54385.1	2q12.3	2008-05-23			ENSG00000169756	ENSG00000169756			6616	protein-coding gene	gene with protein product		602567				7517666, 10022929	Standard	NM_001193482		Approved	PINCH, PINCH1	uc002tek.4	P48059	OTTHUMG00000130983	ENST00000393310.1:c.609C>T	2.37:g.109292448C>T						LIMS1_ENST00000544547.1_Silent_p.R215R|LIMS1_ENST00000338045.3_Silent_p.R203R|LIMS1_ENST00000409441.1_Silent_p.R240R|LIMS1_ENST00000410093.1_Silent_p.R207R|LIMS1_ENST00000542845.1_Silent_p.R265R|LIMS1_ENST00000332345.6_Silent_p.R203R	p.R203R	NM_001193488.1	NP_001180417.1	P48059	LIMS1_HUMAN			6	776	+			203			LIM zinc-binding 4.		B2RAJ4|B7Z483|B7Z7R3|B7Z907|Q53TE0|Q9BS44	Silent	SNP	ENST00000393310.1	37	c.609C>T	CCDS2078.1																																																																																				0.537	LIMS1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000253596.1	NM_004987		6	9	0	0	0	1	0	6	9					T	109292448	C	T	109292448	2	4	435	1	0	0	0	0	0	0	0	1	8803	755	27	1		1	LIMS1	2	109292448	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	667456	109292448	133906925	1220	22145											
RANBP2	5903	broad.mit.edu	37	chr2	109357021	109357021	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctactttcttagaaatgaaaGgacatttctacatgcatgct	13	14	6	8	0	2	2	0	1	2	1	2	3	2	3	0	1	4	2	0	1	5	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:109357021G>A	ENST00000283195.6	+	7	985	c.859G>A	c.(859-861)Gga>Aga	p.G287R		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	287					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|negative regulation of glucokinase activity (GO:0033132)|protein folding (GO:0006457)|protein import into nucleus (GO:0006606)|protein sumoylation (GO:0016925)|regulation of gluconeogenesis involved in cellular glucose homeostasis (GO:0090526)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)	ligase activity (GO:0016874)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|Ran GTPase binding (GO:0008536)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)		RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						AGAAATGAAAGGACATTTCTA	0.393																																						ENST00000283195.6																		RANBP2/ALK(34)	0				NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						c.(859-861)Gga>Aga		RAN binding protein 2							234	250	244					2																	109357021		2051	3887	5938	SO:0001583	missense	5903				carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding	g.chr2:109357021G>A	D42063	CCDS2079.1	2q13	2013-11-14			ENSG00000153201	ENSG00000153201		"Tetratricopeptide (TTC) repeat domain containing"	9848	protein-coding gene	gene with protein product		601181	"acute necrotizing encephalopathy 1 (autosomal dominant)"	ANE1		7724562, 19118815	Standard	NM_006267		Approved	NUP358, ADANE	uc002tem.4	P49792	OTTHUMG00000130981	ENST00000283195.6:c.859G>A	2.37:g.109357021G>A	ENSP00000283195:p.Gly287Arg						p.G287R	NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN			7	985	+			287					Q13074|Q15280|Q53TE2|Q59FH7	Missense_Mutation	SNP	ENST00000283195.6	37	c.859G>A	CCDS2079.1	.	.	.	.	.	.	.	.	.	.	G	27.5	4.834189	0.91036	.	.	ENSG00000153201	ENST00000409491;ENST00000283195	T	0.29142	1.58	4.79	4.79	0.61399	.	.	.	.	.	T	0.55513	0.1925	M	0.66939	2.045	0.46586	D	0.999115	D	0.89917	1.0	D	0.76575	0.988	T	0.60296	-0.7291	9	0.87932	D	0	-21.0005	18.2105	0.89868	0.0:0.0:1.0:0.0	.	287	P49792	RBP2_HUMAN	R	287	ENSP00000283195:G287R	ENSP00000283195:G287R	G	+	1	0	RANBP2	108723453	1.000000	0.71417	0.994000	0.49952	0.998000	0.95712	9.226000	0.95229	2.395000	0.81488	0.555000	0.69702	GGA		0.393	RANBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253594.1	NM_006267		90	131	0	0	0	1	0	90	131					A	109357021	G	A	109357021	3	1	435	1	0	0	0	0	1	0	0	0	13028	1001	35	3	885	3	RANBP2	2	109357021	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	64573	109357021	133842352	1221	22146											
RANBP2	5903	broad.mit.edu	37	chr2	109371409	109371409	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agatgcttaattcagtcatgCaggaactcgaagactatagt	14	11	9	7	1	2	2	2	0	0	2	3	4	2	3	0	1	3	2	0	1	5	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:109371409C>T	ENST00000283195.6	+	16	2377	c.2251C>T	c.(2251-2253)Cag>Tag	p.Q751*		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	751					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|negative regulation of glucokinase activity (GO:0033132)|protein folding (GO:0006457)|protein import into nucleus (GO:0006606)|protein sumoylation (GO:0016925)|regulation of gluconeogenesis involved in cellular glucose homeostasis (GO:0090526)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)	ligase activity (GO:0016874)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|Ran GTPase binding (GO:0008536)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)		RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						TTCAGTCATGCAGGAACTCGA	0.373																																						ENST00000283195.6																		RANBP2/ALK(34)	0				NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						c.(2251-2253)Cag>Tag		RAN binding protein 2							90	95	93					2																	109371409		2198	4281	6479	SO:0001587	stop_gained	5903				carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding	g.chr2:109371409C>T	D42063	CCDS2079.1	2q13	2013-11-14			ENSG00000153201	ENSG00000153201		"Tetratricopeptide (TTC) repeat domain containing"	9848	protein-coding gene	gene with protein product		601181	"acute necrotizing encephalopathy 1 (autosomal dominant)"	ANE1		7724562, 19118815	Standard	NM_006267		Approved	NUP358, ADANE	uc002tem.4	P49792	OTTHUMG00000130981	ENST00000283195.6:c.2251C>T	2.37:g.109371409C>T	ENSP00000283195:p.Gln751*						p.Q751*	NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN			16	2377	+			751					Q13074|Q15280|Q53TE2|Q59FH7	Nonsense_Mutation	SNP	ENST00000283195.6	37	c.2251C>T	CCDS2079.1	.	.	.	.	.	.	.	.	.	.	c	40	8.012414	0.98610	.	.	ENSG00000153201	ENST00000409491;ENST00000283195	.	.	.	5.77	5.77	0.91146	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-7.7485	19.986	0.97351	0.0:1.0:0.0:0.0	.	.	.	.	X	751	.	ENSP00000283195:Q751X	Q	+	1	0	RANBP2	108737841	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.733000	0.55029	2.716000	0.92895	0.542000	0.68232	CAG		0.373	RANBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253594.1	NM_006267		87	147	0	0	0	1	0	87	147					T	109371409	C	T	109371409	4	4	435	1	0	0	0	0	0	1	0	0	13028	711	25	3	2313	3	RANBP2	2	109371409	Nonsense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	14388	109371409	133827964	1222	22147											
ANKRD57	65124	broad.mit.edu	37	chr2	110373357	110373357	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcacctacaaactctcacacGccctagaagatggaggggac	13	6	9	13	1	2	2	2	0	1	2	3	4	2	4	2	3	2	0	2	3	4	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:110373357G>A	ENST00000356454.3	+	1	1447	c.1291G>A	c.(1291-1293)Gcc>Acc	p.A431T	SEPT10_ENST00000397712.2_5'Flank|SEPT10_ENST00000437928.1_5'Flank|SEPT10_ENST00000415095.1_5'Flank|SEPT10_ENST00000356688.4_5'Flank|SEPT10_ENST00000334001.6_5'Flank|SEPT10_ENST00000397714.2_5'Flank|SEPT10_ENST00000545389.1_5'Flank	NM_023016.3	NP_075392.2	Q53LP3	SWAHC_HUMAN	sosondowah ankyrin repeat domain family member C	431																	ACTCTCACACGCCCTAGAAGA	0.642																																						ENST00000356454.3																			0											c.(1291-1293)Gcc>Acc		sosondowah ankyrin repeat domain family member C							41	46	44					2																	110373357		2203	4300	6503	SO:0001583	missense	65124							g.chr2:110373357G>A	AK023346	CCDS33270.1	2q13	2013-01-10	2012-01-12	2012-01-12	ENSG00000198142	ENSG00000198142		"Ankyrin repeat domain containing"	26149	protein-coding gene	gene with protein product			"ankyrin repeat domain 57"	C2orf26, ANKRD57		22234889	Standard	NM_023016		Approved	FLJ21870	uc002tfb.3	Q53LP3	OTTHUMG00000153219	ENST00000356454.3:c.1291G>A	2.37:g.110373357G>A	ENSP00000365830:p.Ala431Thr						p.A431T	NM_023016.3	NP_075392.2	Q53LP3	ANR57_HUMAN			1	1447	+			431					Q8NE15|Q9H6U1	Missense_Mutation	SNP	ENST00000356454.3	37	c.1291G>A	CCDS33270.1	.	.	.	.	.	.	.	.	.	.	G	4.129	0.022123	0.08006	.	.	ENSG00000198142	ENST00000356454	T	0.41758	0.99	4.69	2.89	0.33648	.	1.863430	0.03176	N	0.171478	T	0.25306	0.0615	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.18650	-1.0330	10	0.22706	T	0.39	-10.0977	7.1194	0.25435	0.0905:0.3292:0.5802:0.0	.	431	Q53LP3	ANR57_HUMAN	T	431	ENSP00000365830:A431T	ENSP00000365830:A431T	A	+	1	0	ANKRD57	109730646	0.088000	0.21588	0.005000	0.12908	0.003000	0.03518	1.061000	0.30542	0.597000	0.29811	-0.273000	0.10243	GCC		0.642	SOWAHC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330168.1	NM_023016		10	12	0	0	0	1	0	10	12					A	110373357	G	A	110373357	3	1	435	1	0	0	0	0	1	0	0	0	683	1087	38	1	1293	1	ANKRD57	2	110373357	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	1001948	110373357	132826016	1223	22148											
NPHP1	4867	broad.mit.edu	37	chr2	110936000	110936000	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaggtagaaaggaagcatacTcagttatattttctctgctt	13	14	8	6	0	2	1	1	0	1	1	3	2	2	2	0	2	3	4	0	2	7	7			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:110936000T>C	ENST00000393272.3	-	4	426	c.329A>G	c.(328-330)gAa>gGa	p.E110G	NPHP1_ENST00000445609.2_Splice_Site_p.E110G|NPHP1_ENST00000418527.1_Missense_Mutation_p.E110G|NPHP1_ENST00000316534.4_Splice_Site_p.E110G|NPHP1_ENST00000355301.4_Intron|NPHP1_ENST00000417665.1_Splice_Site_p.E110G	NM_000272.3|NM_207181.2	NP_000263.2|NP_997064.2	O15259	NPHP1_HUMAN	nephronophthisis 1 (juvenile)	110					actin cytoskeleton organization (GO:0030036)|cell projection organization (GO:0030030)|cellular protein localization (GO:0034613)|excretion (GO:0007588)|photoreceptor cell outer segment organization (GO:0035845)|retina development in camera-type eye (GO:0060041)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|spermatid differentiation (GO:0048515)|visual behavior (GO:0007632)	cell-cell junction (GO:0005911)|ciliary transition zone (GO:0035869)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|membrane (GO:0016020)|motile cilium (GO:0031514)|photoreceptor connecting cilium (GO:0032391)|tight junction (GO:0005923)	structural molecule activity (GO:0005198)			autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(2)	24						GGAAGCATACTCAGTTATATT	0.328																																						ENST00000418527.1																			0				autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(2)	24						c.(328-330)gAg>gGg		nephronophthisis 1 (juvenile)							148	142	144					2																	110936000		2203	4300	6503	SO:0001630	splice_region_variant	4867				actin cytoskeleton organization|cell projection organization|cell-cell adhesion|excretion|retina development in camera-type eye|signal transduction|spermatid differentiation|visual behavior	adherens junction|cell-cell junction|cilium axoneme|cytoplasm|cytoskeleton|motile cilium|photoreceptor connecting cilium	protein binding|structural molecule activity	g.chr2:110936000T>C	AF023674	CCDS2086.1, CCDS46384.1, CCDS46385.1, CCDS46386.1	2q13	2014-01-28			ENSG00000144061	ENSG00000144061			7905	protein-coding gene	gene with protein product	"nephrocystin-1"	607100		NPH1			Standard	NM_000272		Approved	JBTS4, SLSN1	uc002tfm.4	O15259	OTTHUMG00000131195	ENST00000393272.3:c.329+1A>G	2.37:g.110936000T>C						NPHP1_ENST00000417665.1_Splice_Site_p.E110_splice|NPHP1_ENST00000393272.3_Splice_Site_p.E110_splice|NPHP1_ENST00000355301.4_Intron|NPHP1_ENST00000316534.4_Splice_Site_p.E110_splice|NPHP1_ENST00000445609.2_Splice_Site_p.E110_splice	p.E110G			O15259	NPHP1_HUMAN			4	359	-			110					O14837	Missense_Mutation	SNP	ENST00000393272.3	37	c.329A>G	CCDS46385.1	.	.	.	.	.	.	.	.	.	.	T	9.878	1.200807	0.22121	.	.	ENSG00000144061	ENST00000316534;ENST00000445609;ENST00000393272;ENST00000417665;ENST00000418527	T;T;T;T	0.65549	-0.16;-0.14;-0.16;-0.13	5.57	3.22	0.36961	.	0.577949	0.16757	N	0.200759	T	0.53578	0.1805	L	0.50333	1.59	0.25824	N	0.984254	B;B;B;B;B;B	0.23442	0.051;0.037;0.004;0.051;0.085;0.085	B;B;B;B;B;B	0.21917	0.016;0.023;0.006;0.016;0.037;0.037	T	0.49570	-0.8926	10	0.54805	T	0.06	-11.4462	8.2782	0.31885	0.0:0.1634:0.0:0.8366	.	110;110;110;110;110;110	B4DQY0;C9JNM7;C9J082;O15259;O15259-2;O15259-4	.;.;.;NPHP1_HUMAN;.;.	G	110	ENSP00000313169:E110G;ENSP00000389879:E110G;ENSP00000376953:E110G;ENSP00000402176:E110G	ENSP00000313169:E110G	E	-	2	0	NPHP1	110293289	0.998000	0.40836	0.724000	0.30704	0.260000	0.26232	1.225000	0.32551	0.500000	0.27991	0.533000	0.62120	GAA;GAA;GAA;GAA;GAG		0.328	NPHP1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000253919.3	NM_000272	Missense_Mutation	17	49	0	0	0	1	0	17	49					C	110936000	T	C	110936000	5	2	435	1	0	0	0	0	0	0	1	0	10579	1565	54	4	1940	4	NPHP1	2	110936000	Splice_Site	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	562643	110936000	132263373	1224	22149											
BUB1	699	broad.mit.edu	37	chr2	111398967	111398967	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctcaatcatgtaaagcatTctcatagcaaaagagatgac	16	10	7	8	0	3	2	3	1	1	1	4	3	3	2	0	0	3	4	0	0	6	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:111398967T>C	ENST00000302759.6	-	22	2818	c.2700A>G	c.(2698-2700)agA>agG	p.R900R	BUB1_ENST00000478175.1_5'UTR|BUB1_ENST00000535254.1_Silent_p.R880R|BUB1_ENST00000409311.1_Intron	NM_004336.3	NP_004327.1	O43683	BUB1_HUMAN	BUB1 mitotic checkpoint serine/threonine kinase	900	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|chromosome segregation (GO:0007059)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|regulation of chromosome segregation (GO:0051983)|regulation of sister chromatid cohesion (GO:0007063)|spindle assembly checkpoint (GO:0071173)|viral process (GO:0016032)	condensed chromosome kinetochore (GO:0000777)|condensed nuclear chromosome, centromeric region (GO:0000780)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(3)|endometrium(8)|kidney(4)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|stomach(1)	45		Ovarian(717;0.0822)		BRCA - Breast invasive adenocarcinoma(221;0.0556)		TGTAAAGCATTCTCATAGCAA	0.378																																						ENST00000535254.1																			0				breast(3)|endometrium(8)|kidney(4)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|stomach(1)	45						c.(2638-2640)agA>agG		BUB1 mitotic checkpoint serine/threonine kinase							125	123	124					2																	111398967		2203	4300	6503	SO:0001819	synonymous_variant	699				apoptosis|cell division|chromosome segregation|interspecies interaction between organisms|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|regulation of sister chromatid cohesion	condensed chromosome kinetochore|cytosol	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr2:111398967T>C	AF046078	CCDS33273.1, CCDS62984.1, CCDS62985.1	2q13	2013-01-17	2013-01-17		ENSG00000169679	ENSG00000169679			1148	protein-coding gene	gene with protein product		602452	"budding uninhibited by benzimidazoles 1 (yeast homolog)", "budding uninhibited by benzimidazoles 1 homolog (yeast)"	BUB1L			Standard	NM_004336		Approved	hBUB1, BUB1A	uc002tgc.3	O43683	OTTHUMG00000153638	ENST00000302759.6:c.2700A>G	2.37:g.111398967T>C						BUB1_ENST00000478175.1_5'UTR|BUB1_ENST00000302759.6_Silent_p.R900R|BUB1_ENST00000409311.1_Intron	p.R880R	NM_001278616.1	NP_001265545.1	O43683	BUB1_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0556)	21	2707	-		Ovarian(717;0.0822)	900			Protein kinase.		E9PC26|F5GXI5|O43430|O43643|O60626|Q53QE4	Silent	SNP	ENST00000302759.6	37	c.2640A>G	CCDS33273.1																																																																																				0.378	BUB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331925.1	NM_004336		31	44	0	0	0	1	0	31	44					C	111398967	T	C	111398967	2	2	435	1	0	0	0	0	0	0	0	1	1570	1780	62	4		4	BUB1	2	111398967	Silent	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	462967	111398967	131800406	1225	22150											
BUB1	699	broad.mit.edu	37	chr2	111419366	111419366	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aggttactggaagacatggcGctctcagttcctgctgggag	8	10	14	9	1	1	1	1	0	1	1	3	3	2	3	1	4	2	4	1	4	2	2	rs548365437	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:111419366G>A	ENST00000302759.6	-	10	1128	c.1010C>T	c.(1009-1011)gCg>gTg	p.A337V	BUB1_ENST00000409311.1_Missense_Mutation_p.A337V|BUB1_ENST00000535254.1_Missense_Mutation_p.A317V	NM_004336.3	NP_004327.1	O43683	BUB1_HUMAN	BUB1 mitotic checkpoint serine/threonine kinase	337					apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|chromosome segregation (GO:0007059)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|regulation of chromosome segregation (GO:0051983)|regulation of sister chromatid cohesion (GO:0007063)|spindle assembly checkpoint (GO:0071173)|viral process (GO:0016032)	condensed chromosome kinetochore (GO:0000777)|condensed nuclear chromosome, centromeric region (GO:0000780)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(3)|endometrium(8)|kidney(4)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|stomach(1)	45		Ovarian(717;0.0822)		BRCA - Breast invasive adenocarcinoma(221;0.0556)		AAGACATGGCGCTCTCAGTTC	0.453													G|||	5	0.000998403	0	0	5008	,	,		21445	0		0	False		,,,				2504	0.0051					ENST00000535254.1																			0				breast(3)|endometrium(8)|kidney(4)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|stomach(1)	45						c.(949-951)gCg>gTg		BUB1 mitotic checkpoint serine/threonine kinase							134	128	130					2																	111419366		2203	4300	6503	SO:0001583	missense	699				apoptosis|cell division|chromosome segregation|interspecies interaction between organisms|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|regulation of sister chromatid cohesion	condensed chromosome kinetochore|cytosol	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr2:111419366G>A	AF046078	CCDS33273.1, CCDS62984.1, CCDS62985.1	2q13	2013-01-17	2013-01-17		ENSG00000169679	ENSG00000169679			1148	protein-coding gene	gene with protein product		602452	"budding uninhibited by benzimidazoles 1 (yeast homolog)", "budding uninhibited by benzimidazoles 1 homolog (yeast)"	BUB1L			Standard	NM_004336		Approved	hBUB1, BUB1A	uc002tgc.3	O43683	OTTHUMG00000153638	ENST00000302759.6:c.1010C>T	2.37:g.111419366G>A	ENSP00000302530:p.Ala337Val					BUB1_ENST00000302759.6_Missense_Mutation_p.A337V|BUB1_ENST00000409311.1_Missense_Mutation_p.A337V	p.A317V	NM_001278616.1	NP_001265545.1	O43683	BUB1_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0556)	9	1017	-		Ovarian(717;0.0822)	337					E9PC26|F5GXI5|O43430|O43643|O60626|Q53QE4	Missense_Mutation	SNP	ENST00000302759.6	37	c.950C>T	CCDS33273.1	.	.	.	.	.	.	.	.	.	.	G	11.72	1.722793	0.30503	.	.	ENSG00000169679	ENST00000535254;ENST00000409311;ENST00000302759;ENST00000541432	T;T;T	0.30981	2.23;1.51;2.51	5.09	-0.39	0.12450	.	1.353090	0.04080	N	0.309404	T	0.18383	0.0441	N	0.25647	0.755	0.09310	N	1	B;B;B	0.17465	0.017;0.022;0.022	B;B;B	0.12156	0.007;0.003;0.005	T	0.13818	-1.0495	10	0.16420	T	0.52	-0.0195	2.4318	0.04473	0.1794:0.3251:0.371:0.1245	.	317;337;337	F5GXI5;E9PC26;O43683	.;.;BUB1_HUMAN	V	317;337;337;337	ENSP00000441013:A317V;ENSP00000386701:A337V;ENSP00000302530:A337V	ENSP00000302530:A337V	A	-	2	0	BUB1	111135839	0.000000	0.05858	0.000000	0.03702	0.978000	0.69477	-0.242000	0.08928	-0.093000	0.12396	0.555000	0.69702	GCG		0.453	BUB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331925.1	NM_004336		27	44	0	0	0	1	0	27	44					A	111419366	G	A	111419366	3	1	435	1	0	0	0	0	1	0	0	0	1570	1087	38	1	2311	1	BUB1	2	111419366	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	20399	111419366	131780007	1226	22151											
ANAPC1	64682	broad.mit.edu	37	chr2	112545823	112545823	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agactcaccggttgtcagtgCtgtgagctgggaagtgcgga	8	9	16	8	2	2	2	2	1	0	1	2	4	2	4	1	3	3	3	1	3	1	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:112545823C>A	ENST00000341068.3	-	39	5559	c.4787G>T	c.(4786-4788)aGc>aTc	p.S1596I		NM_022662.3	NP_073153.1	Q9H1A4	APC1_HUMAN	anaphase promoting complex subunit 1	1596					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(7)|lung(16)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	49						GTTGTCAGTGCTGTGAGCTGG	0.433																																						ENST00000341068.3																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(7)|lung(16)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	49						c.(4786-4788)aGc>aTc		anaphase promoting complex subunit 1							18	16	17					2																	112545823		2200	4290	6490	SO:0001583	missense	64682				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm		g.chr2:112545823C>A	AJ278357	CCDS2093.1	2q12.1	2011-06-15			ENSG00000153107	ENSG00000153107		"Anaphase promoting complex subunits"	19988	protein-coding gene	gene with protein product		608473				11179667	Standard	NM_022662		Approved	MCPR, TSG24, APC1	uc002ssh.3	Q9H1A4	OTTHUMG00000131277	ENST00000341068.3:c.4787G>T	2.37:g.112545823C>A	ENSP00000339109:p.Ser1596Ile						p.S1596I	NM_022662.3	NP_073153.1	Q9H1A4	APC1_HUMAN			39	5559	-			1596					Q2M3H8|Q9BSE6|Q9H8D0	Missense_Mutation	SNP	ENST00000341068.3	37	c.4787G>T	CCDS2093.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	26.8|26.8	4.769622|4.769622	0.90020|0.90020	.|.	.|.	ENSG00000153107|ENSG00000153107	ENST00000427997|ENST00000341068	.|T	.|0.26373	.|1.74	4.55|4.55	4.55|4.55	0.56014|0.56014	.|.	.|0.000000	.|0.56097	.|D	.|0.000029	T|T	0.45657|0.45657	0.1353|0.1353	L|L	0.60957|0.60957	1.885|1.885	0.80722|0.80722	D|D	1|1	.|D	.|0.69078	.|0.997	.|D	.|0.68192	.|0.956	T|T	0.25779|0.25779	-1.0122|-1.0122	5|10	.|0.24483	.|T	.|0.36	-10.2589|-10.2589	17.7013|17.7013	0.88295|0.88295	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|1596	.|Q9H1A4	.|APC1_HUMAN	H|I	1130|1596	.|ENSP00000339109:S1596I	.|ENSP00000339109:S1596I	Q|S	-|-	3|2	2|0	ANAPC1|ANAPC1	112262294|112262294	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	7.554000|7.554000	0.82212|0.82212	2.242000|2.242000	0.73789|0.73789	0.650000|0.650000	0.86243|0.86243	CAG|AGC		0.433	ANAPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254045.2	NM_022662		4	17	1	0	2.7689e-08	1	2.91998e-08	4	17					A	112545823	C	A	112545823	3	1	435	1	0	0	0	0	1	0	0	0	598	797	28	5	1087	5	ANAPC1	2	112545823	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	1126457	112545823	130653550	1227	22152											
ANAPC1	64682	broad.mit.edu	37	chr2	112630929	112630929	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atcctttccttctatgctatGcatgttaatacatgagcttt	9	18	5	9	0	1	1	0	1	1	0	3	1	3	1	2	0	4	4	2	0	4	7			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:112630929G>A	ENST00000341068.3	-	5	1256	c.484C>T	c.(484-486)Cat>Tat	p.H162Y	ANAPC1_ENST00000489177.1_5'UTR	NM_022662.3	NP_073153.1	Q9H1A4	APC1_HUMAN	anaphase promoting complex subunit 1	162					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(7)|lung(16)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	49						TCTATGCTATGCATGTTAATA	0.333																																						ENST00000341068.3																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(7)|lung(16)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	49						c.(484-486)Cat>Tat		anaphase promoting complex subunit 1							65	60	62					2																	112630929		2203	4294	6497	SO:0001583	missense	64682				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm		g.chr2:112630929G>A	AJ278357	CCDS2093.1	2q12.1	2011-06-15			ENSG00000153107	ENSG00000153107		"Anaphase promoting complex subunits"	19988	protein-coding gene	gene with protein product		608473				11179667	Standard	NM_022662		Approved	MCPR, TSG24, APC1	uc002ssh.3	Q9H1A4	OTTHUMG00000131277	ENST00000341068.3:c.484C>T	2.37:g.112630929G>A	ENSP00000339109:p.His162Tyr					ANAPC1_ENST00000489177.1_5'UTR	p.H162Y	NM_022662.3	NP_073153.1	Q9H1A4	APC1_HUMAN			5	1256	-			162					Q2M3H8|Q9BSE6|Q9H8D0	Missense_Mutation	SNP	ENST00000341068.3	37	c.484C>T	CCDS2093.1	.	.	.	.	.	.	.	.	.	.	G	11.23	1.578623	0.28180	.	.	ENSG00000153107	ENST00000341068	.	.	.	4.49	4.49	0.54785	.	0.000000	0.47455	U	0.000222	T	0.56411	0.1983	N	0.13235	0.315	0.58432	D	0.999992	D	0.62365	0.991	D	0.76575	0.988	T	0.50294	-0.8845	9	0.02654	T	1	-21.7438	17.5654	0.87918	0.0:0.0:1.0:0.0	.	162	Q9H1A4	APC1_HUMAN	Y	162	.	ENSP00000339109:H162Y	H	-	1	0	ANAPC1	112347400	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.938000	0.87678	2.183000	0.69458	0.651000	0.88453	CAT		0.333	ANAPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254045.2	NM_022662		22	47	0	0	0	1	0	22	47					A	112630929	G	A	112630929	3	1	435	1	0	0	0	0	1	0	0	0	598	1319	46	3	5526	3	ANAPC1	2	112630929	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	85106	112630929	130568444	1228	22153											
MERTK	10461	broad.mit.edu	37	chr2	112740448	112740448	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagcacctttaaatgtcactGtgtttctgaatgaatctagt	11	16	7	7	0	3	2	1	2	2	0	3	2	3	2	1	0	1	2	1	0	6	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:112740448G>A	ENST00000295408.4	+	8	1431	c.1174G>A	c.(1174-1176)Gtg>Atg	p.V392M	MERTK_ENST00000421804.2_Missense_Mutation_p.V392M|MERTK_ENST00000409780.1_Missense_Mutation_p.V216M			Q12866	MERTK_HUMAN	MER proto-oncogene, tyrosine kinase	392	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				apoptotic cell clearance (GO:0043277)|blood coagulation (GO:0007596)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|leukocyte migration (GO:0050900)|natural killer cell differentiation (GO:0001779)|negative regulation of lymphocyte activation (GO:0051250)|peptidyl-tyrosine phosphorylation (GO:0018108)|phagocytosis (GO:0006909)|platelet activation (GO:0030168)|positive regulation of phagocytosis (GO:0050766)|protein kinase B signaling (GO:0043491)|protein phosphorylation (GO:0006468)|retina development in camera-type eye (GO:0060041)|secretion by cell (GO:0032940)|spermatogenesis (GO:0007283)|substrate adhesion-dependent cell spreading (GO:0034446)|vagina development (GO:0060068)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|rhabdomere (GO:0016028)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(10)	46						AAATGTCACTGTGTTTCTGAA	0.438																																						ENST00000295408.4																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(10)	46						c.(1174-1176)Gtg>Atg		c-mer proto-oncogene tyrosine kinase							191	186	188					2																	112740448		2203	4300	6503	SO:0001583	missense	10461				cell surface receptor linked signaling pathway|cell-cell signaling|leukocyte migration	integral to plasma membrane|soluble fraction	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr2:112740448G>A	U08023	CCDS2094.1	2q14.1	2014-06-26	2014-06-26		ENSG00000153208	ENSG00000153208		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	7027	protein-coding gene	gene with protein product		604705	"c-mer proto-oncogene tyrosine kinase"			8086340, 10343112	Standard	XM_005263565		Approved	mer, RP38	uc002thk.1	Q12866	OTTHUMG00000131278	ENST00000295408.4:c.1174G>A	2.37:g.112740448G>A	ENSP00000295408:p.Val392Met					MERTK_ENST00000421804.2_Missense_Mutation_p.V392M|MERTK_ENST00000409780.1_Missense_Mutation_p.V216M	p.V392M			Q12866	MERTK_HUMAN			8	1431	+			392			Fibronectin type-III 2.		Q9HBB4	Missense_Mutation	SNP	ENST00000295408.4	37	c.1174G>A	CCDS2094.1	.	.	.	.	.	.	.	.	.	.	G	5.933	0.356220	0.11239	.	.	ENSG00000153208	ENST00000295408;ENST00000421804;ENST00000409780	T;T;T	0.58210	0.35;0.35;0.35	4.66	2.79	0.32731	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.276160	0.19061	N	0.123762	T	0.42877	0.1222	M	0.64997	1.995	0.19300	N	0.999975	B	0.28055	0.199	B	0.20577	0.03	T	0.31194	-0.9952	10	0.35671	T	0.21	-8.8989	5.29	0.15721	0.1951:0.1662:0.6387:0.0	.	392	Q12866	MERTK_HUMAN	M	392;392;216	ENSP00000295408:V392M;ENSP00000389152:V392M;ENSP00000387277:V216M	ENSP00000295408:V392M	V	+	1	0	MERTK	112456919	0.218000	0.23608	0.398000	0.26321	0.469000	0.32828	1.000000	0.29770	0.451000	0.26802	0.508000	0.49915	GTG		0.438	MERTK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254046.2			14	88	0	0	0	1	0	14	88					A	112740448	G	A	112740448	3	1	435	1	0	0	0	0	1	0	0	0	9479	1377	48	3	1204	3	MERTK	2	112740448	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	109519	112740448	130458925	1229	22154											
MERTK	10461	broad.mit.edu	37	chr2	112767612	112767612	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cggggacctgcatacttactTactttattcccgattggaga	9	13	9	10	2	0	1	0	0	0	1	1	4	1	2	2	3	4	1	2	3	4	7			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:112767612T>C	ENST00000295408.4	+	15	2305	c.2048T>C	c.(2047-2049)tTa>tCa	p.L683S	MERTK_ENST00000421804.2_Missense_Mutation_p.L683S|MERTK_ENST00000409780.1_Missense_Mutation_p.L507S			Q12866	MERTK_HUMAN	MER proto-oncogene, tyrosine kinase	683	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic cell clearance (GO:0043277)|blood coagulation (GO:0007596)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|leukocyte migration (GO:0050900)|natural killer cell differentiation (GO:0001779)|negative regulation of lymphocyte activation (GO:0051250)|peptidyl-tyrosine phosphorylation (GO:0018108)|phagocytosis (GO:0006909)|platelet activation (GO:0030168)|positive regulation of phagocytosis (GO:0050766)|protein kinase B signaling (GO:0043491)|protein phosphorylation (GO:0006468)|retina development in camera-type eye (GO:0060041)|secretion by cell (GO:0032940)|spermatogenesis (GO:0007283)|substrate adhesion-dependent cell spreading (GO:0034446)|vagina development (GO:0060068)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|rhabdomere (GO:0016028)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(10)	46						CATACTTACTTACTTTATTCC	0.428																																						ENST00000295408.4																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(10)	46						c.(2047-2049)tTa>tCa		c-mer proto-oncogene tyrosine kinase							174	172	173					2																	112767612		2203	4300	6503	SO:0001583	missense	10461				cell surface receptor linked signaling pathway|cell-cell signaling|leukocyte migration	integral to plasma membrane|soluble fraction	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr2:112767612T>C	U08023	CCDS2094.1	2q14.1	2014-06-26	2014-06-26		ENSG00000153208	ENSG00000153208		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	7027	protein-coding gene	gene with protein product		604705	"c-mer proto-oncogene tyrosine kinase"			8086340, 10343112	Standard	XM_005263565		Approved	mer, RP38	uc002thk.1	Q12866	OTTHUMG00000131278	ENST00000295408.4:c.2048T>C	2.37:g.112767612T>C	ENSP00000295408:p.Leu683Ser					MERTK_ENST00000421804.2_Missense_Mutation_p.L683S|MERTK_ENST00000409780.1_Missense_Mutation_p.L507S	p.L683S			Q12866	MERTK_HUMAN			15	2305	+			683			Protein kinase.		Q9HBB4	Missense_Mutation	SNP	ENST00000295408.4	37	c.2048T>C	CCDS2094.1	.	.	.	.	.	.	.	.	.	.	T	22.5	4.295115	0.81025	.	.	ENSG00000153208	ENST00000295408;ENST00000421804;ENST00000409780	D;D;D	0.91740	-2.9;-2.9;-2.9	6.04	6.04	0.98038	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.26623	U	0.023344	D	0.96929	0.8997	M	0.91510	3.215	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	D	0.97664	1.0162	10	0.87932	D	0	-13.6449	16.25	0.82478	0.0:0.0:0.0:1.0	.	683	Q12866	MERTK_HUMAN	S	683;683;507	ENSP00000295408:L683S;ENSP00000389152:L683S;ENSP00000387277:L507S	ENSP00000295408:L683S	L	+	2	0	MERTK	112484083	0.997000	0.39634	0.006000	0.13384	0.828000	0.46876	7.316000	0.79007	2.317000	0.78254	0.460000	0.39030	TTA		0.428	MERTK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254046.2			4	89	0	0	0	1	0	4	89					C	112767612	T	C	112767612	3	2	435	1	0	0	0	0	1	0	0	0	9479	1764	61	4	2106	4	MERTK	2	112767612	Missense_Mutation	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	27164	112767612	130431761	1230	22155											
MERTK	10461	broad.mit.edu	37	chr2	112779082	112779082	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgattattaccgccaaggccGcattgctaagatgcctgtta	10	11	9	11	3	0	1	0	0	0	1	0	2	0	1	4	1	3	3	4	1	5	5	rs370526555		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:112779082G>A	ENST00000295408.4	+	17	2530	c.2273G>A	c.(2272-2274)cGc>cAc	p.R758H	MERTK_ENST00000421804.2_Missense_Mutation_p.R758H|MERTK_ENST00000409780.1_Missense_Mutation_p.R582H			Q12866	MERTK_HUMAN	MER proto-oncogene, tyrosine kinase	758	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic cell clearance (GO:0043277)|blood coagulation (GO:0007596)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|leukocyte migration (GO:0050900)|natural killer cell differentiation (GO:0001779)|negative regulation of lymphocyte activation (GO:0051250)|peptidyl-tyrosine phosphorylation (GO:0018108)|phagocytosis (GO:0006909)|platelet activation (GO:0030168)|positive regulation of phagocytosis (GO:0050766)|protein kinase B signaling (GO:0043491)|protein phosphorylation (GO:0006468)|retina development in camera-type eye (GO:0060041)|secretion by cell (GO:0032940)|spermatogenesis (GO:0007283)|substrate adhesion-dependent cell spreading (GO:0034446)|vagina development (GO:0060068)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|rhabdomere (GO:0016028)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(10)	46						CGCCAAGGCCGCATTGCTAAG	0.463																																						ENST00000295408.4																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(10)	46						c.(2272-2274)cGc>cAc		c-mer proto-oncogene tyrosine kinase							137	133	134					2																	112779082		2203	4300	6503	SO:0001583	missense	10461				cell surface receptor linked signaling pathway|cell-cell signaling|leukocyte migration	integral to plasma membrane|soluble fraction	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr2:112779082G>A	U08023	CCDS2094.1	2q14.1	2014-06-26	2014-06-26		ENSG00000153208	ENSG00000153208		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	7027	protein-coding gene	gene with protein product		604705	"c-mer proto-oncogene tyrosine kinase"			8086340, 10343112	Standard	XM_005263565		Approved	mer, RP38	uc002thk.1	Q12866	OTTHUMG00000131278	ENST00000295408.4:c.2273G>A	2.37:g.112779082G>A	ENSP00000295408:p.Arg758His					MERTK_ENST00000421804.2_Missense_Mutation_p.R758H|MERTK_ENST00000409780.1_Missense_Mutation_p.R582H	p.R758H			Q12866	MERTK_HUMAN			17	2530	+			758			Protein kinase.		Q9HBB4	Missense_Mutation	SNP	ENST00000295408.4	37	c.2273G>A	CCDS2094.1	.	.	.	.	.	.	.	.	.	.	G	28.0	4.880574	0.91740	.	.	ENSG00000153208	ENST00000295408;ENST00000421804;ENST00000393237;ENST00000409780;ENST00000449344	D;D;D;D	0.82893	-1.66;-1.66;-1.66;-1.66	5.24	5.24	0.73138	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.34088	U	0.004274	D	0.86632	0.5979	L	0.28344	0.845	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.87810	0.2631	10	0.62326	D	0.03	-24.4355	19.012	0.92877	0.0:0.0:1.0:0.0	.	758	Q12866	MERTK_HUMAN	H	758;758;394;582;82	ENSP00000295408:R758H;ENSP00000389152:R758H;ENSP00000387277:R582H;ENSP00000412660:R82H	ENSP00000295408:R758H	R	+	2	0	MERTK	112495553	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.860000	0.86993	2.724000	0.93272	0.563000	0.77884	CGC		0.463	MERTK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254046.2			32	44	0	0	0	1	0	32	44					A	112779082	G	A	112779082	3	1	435	1	0	0	0	0	1	0	0	0	9479	1087	38	1	2339	1	MERTK	2	112779082	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	11470	112779082	130420291	1231	22156											
RGPD5	727851	broad.mit.edu	37	chr2	113147697	113147697	+	Frame_Shift_Del	DEL	T	T	-																															gagcctgtaagccagtatcaTtttcaagaggcttttccctt																										TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:113147697delT	ENST00000302558.3	-	20	3016	c.2825delA	c.(2824-2826)aatfs	p.N942fs	RGPD8_ENST00000409750.1_Frame_Shift_Del_p.N802fs	NM_001164463.1	NP_001157935.1	O14715	RGPD8_HUMAN	RANBP2-like and GRIP domain containing 8	942					protein targeting to Golgi (GO:0000042)	nuclear pore (GO:0005643)	Ran GTPase binding (GO:0008536)			endometrium(4)|kidney(1)|lung(1)|prostate(3)|urinary_tract(1)	10						GCCAGTATCATTTTCAAGAGG	0.428																																						ENST00000302558.3																			0				endometrium(4)|kidney(1)|lung(1)|prostate(3)|urinary_tract(1)	10						c.(2824-2826)atfs		RANBP2-like and GRIP domain containing 8							151	109	121					2																	113147697		692	1590	2282	SO:0001589	frameshift_variant	727851							g.chr2:113147697delT	AF012086	CCDS46394.1	2q13	2013-01-10	2005-12-20	2005-12-20	ENSG00000169629	ENSG00000169629		"Tetratricopeptide (TTC) repeat domain containing"	9849	protein-coding gene	gene with protein product		602752	"RAN binding protein 2-like 1"	RANBP2L1		9480752	Standard	NM_001164463		Approved	RanBP2alpha	uc002ths.2	O14715	OTTHUMG00000153289	ENST00000302558.3:c.2825delA	2.37:g.113147697delT	ENSP00000306637:p.Asn942fs					RGPD8_ENST00000409750.1_Frame_Shift_Del_p.N802fs	p.N942fs	NM_001164463.1	NP_001157935.1					20	3016	-								Q5CZA8	Frame_Shift_Del	DEL	ENST00000302558.3	37	c.2825delA	CCDS46394.1																																																																																				0.428	RGPD8-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375951.1	XM_001722279		16	474						16	474	---	---	---	---	-	113147697	T	-	113147697	7	5	435	1	0	1	0	1	0	0	0	0	13289	1493	52	0	13502	0	RGPD5	2	113147697	Frame_Shift_Del	DEL	T	TCGA-XK-AAIW-01A-11D-A41K-08	368615	113147697	130051676	1232	22157											
POLR1B	84172	broad.mit.edu	37	chr2	113333173	113333173	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cccttcttggtctgccatgcGcaacagaaaatacaactgta	12	10	7	12	1	2	1	0	0	2	1	2	1	2	1	2	1	5	2	2	1	6	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:113333173G>A	ENST00000263331.5	+	15	3855	c.3275G>A	c.(3274-3276)cGc>cAc	p.R1092H	POLR1B_ENST00000541869.1_Missense_Mutation_p.R1130H|POLR1B_ENST00000417433.2_Missense_Mutation_p.R1036H|POLR1B_ENST00000409894.3_Missense_Mutation_p.R909H|POLR1B_ENST00000537335.1_Missense_Mutation_p.R881H	NM_019014.4	NP_061887.2	Q9H9Y6	RPA2_HUMAN	polymerase (RNA) I polypeptide B, 128kDa	1092					gene expression (GO:0010467)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|metal ion binding (GO:0046872)|ribonucleoside binding (GO:0032549)	p.R1092H(1)		breast(3)|endometrium(9)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	42						TCTGCCATGCGCAACAGAAAA	0.478																																					Ovarian(16;256 576 9537 23969 41147)	ENST00000263331.5																			1	Substitution - Missense(1)	p.R1092H(1)	endometrium(1)	breast(3)|endometrium(9)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	42						c.(3274-3276)cGc>cAc		polymerase (RNA) I polypeptide B, 128kDa							138	116	123					2																	113333173		2203	4300	6503	SO:0001583	missense	84172				termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|protein binding|ribonucleoside binding	g.chr2:113333173G>A	AK001678	CCDS2097.1, CCDS46395.1, CCDS62988.1, CCDS62989.1, CCDS62990.1	2q13	2013-01-21			ENSG00000125630	ENSG00000125630		"RNA polymerase subunits"	20454	protein-coding gene	gene with protein product		602000					Standard	NM_001137604		Approved	Rpo1-2, FLJ21921, FLJ10816, RPA2	uc002thw.2	Q9H9Y6	OTTHUMG00000131314	ENST00000263331.5:c.3275G>A	2.37:g.113333173G>A	ENSP00000263331:p.Arg1092His					POLR1B_ENST00000541869.1_Missense_Mutation_p.R1130H|POLR1B_ENST00000417433.2_Missense_Mutation_p.R1036H|POLR1B_ENST00000537335.1_Missense_Mutation_p.R881H|POLR1B_ENST00000409894.3_Missense_Mutation_p.R909H	p.R1092H	NM_019014.4	NP_061887.2	Q9H9Y6	RPA2_HUMAN			15	3855	+			1092					B7Z6Y7|B7Z823|F5GZX4|F8W898|Q2TAM4|Q585T5|Q6ZRR2|Q9H9D3	Missense_Mutation	SNP	ENST00000263331.5	37	c.3275G>A	CCDS2097.1	.	.	.	.	.	.	.	.	.	.	G	29.8	5.038953	0.93630	.	.	ENSG00000125630	ENST00000263331;ENST00000541869;ENST00000409894;ENST00000537335;ENST00000417433	T;T;T;T;T	0.77098	-1.07;-1.07;-1.07;-1.07;-1.07	5.38	5.38	0.77491	RNA polymerase Rpb2, domain 7 (1);	0.092126	0.85682	D	0.000000	D	0.86900	0.6044	M	0.65320	2	0.80722	D	1	D;D;B;D	0.89917	0.998;1.0;0.349;0.995	P;D;B;P	0.83275	0.817;0.996;0.052;0.836	D	0.87691	0.2554	10	0.66056	D	0.02	-21.9707	17.9263	0.88985	0.0:0.0:1.0:0.0	.	1130;909;1036;1092	F5GZX4;F8W898;Q9H9Y6-2;Q9H9Y6	.;.;.;RPA2_HUMAN	H	1092;1130;909;881;1036	ENSP00000263331:R1092H;ENSP00000444136:R1130H;ENSP00000387143:R909H;ENSP00000437914:R881H;ENSP00000405358:R1036H	ENSP00000263331:R1092H	R	+	2	0	POLR1B	113049644	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.379000	0.97198	2.512000	0.84698	0.563000	0.77884	CGC		0.478	POLR1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254083.1	NM_019014		19	72	0	0	0	1	0	19	72					A	113333173	G	A	113333173	3	1	435	1	0	0	0	0	1	0	0	0	12210	1087	38	1	3333	1	POLR1B	2	113333173	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	185476	113333173	129866200	1233	22158											
IL1F6	27179	broad.mit.edu	37	chr2	113763657	113763657	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcccgaggaaggaccgtatGtctccaggtgagtagccacg	9	7	14	11	3	1	1	0	1	1	0	3	4	2	3	4	3	1	2	4	3	3	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:113763657G>A	ENST00000259211.6	+	2	528	c.117G>A	c.(115-117)atG>atA	p.M39I		NM_014440.1	NP_055255.1	Q9UHA7	IL36A_HUMAN	interleukin 36, alpha	39					immune response (GO:0006955)|inflammatory response (GO:0006954)|positive regulation of interleukin-6 production (GO:0032755)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	interleukin-1 receptor binding (GO:0005149)			large_intestine(1)|lung(3)|ovary(2)|skin(1)|stomach(2)	9						AGGACCGTATGTCTCCAGGTG	0.522																																						ENST00000259211.6																			0				large_intestine(1)|lung(3)|ovary(2)|skin(1)|stomach(2)	9						c.(115-117)atG>atA		interleukin 36, alpha							48	52	51					2																	113763657		2052	4206	6258	SO:0001583	missense	27179				immune response|inflammatory response	extracellular space	cytokine activity|interleukin-1 receptor binding	g.chr2:113763657G>A	AF201831	CCDS42734.1	2q12-q14.1	2011-07-14	2011-06-06	2011-06-06	ENSG00000136694	ENSG00000136694		"Interleukins and interleukin receptors"	15562	protein-coding gene	gene with protein product		605509	"interleukin 1 family, member 6 (epsilon)"	IL1F6		10625660	Standard	XM_005263639		Approved	FIL1, FIL1E, IL-1F6, IL1(EPSILON), MGC129553, MGC129552	uc010yxr.2	Q9UHA7	OTTHUMG00000153320	ENST00000259211.6:c.117G>A	2.37:g.113763657G>A	ENSP00000259211:p.Met39Ile						p.M39I	NM_014440.1	NP_055255.1	Q9UHA7	IL36A_HUMAN			2	528	+			39					B2RAD9|Q53SR7|Q5BLR4|Q7RTZ8	Missense_Mutation	SNP	ENST00000259211.6	37	c.117G>A	CCDS42734.1	.	.	.	.	.	.	.	.	.	.	G	9.921	1.212086	0.22289	.	.	ENSG00000136694	ENST00000259211	T	0.15834	2.39	4.69	-0.536	0.11876	.	1.380940	0.04319	N	0.350340	T	0.08313	0.0207	N	0.04746	-0.17	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.31861	-0.9928	10	0.35671	T	0.21	25.0497	4.6589	0.12632	0.3576:0.1532:0.4891:0.0	.	39	Q9UHA7	IL36A_HUMAN	I	39	ENSP00000259211:M39I	ENSP00000259211:M39I	M	+	3	0	IL36A	113480128	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.080000	0.11339	-0.216000	0.10048	-0.225000	0.12378	ATG		0.522	IL36A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330711.1	NM_014440		11	20	0	0	0	1	0	11	20					A	113763657	G	A	113763657	3	1	435	1	0	0	0	0	1	0	0	0	7654	1377	48	3	123	3	IL1F6	2	113763657	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	430484	113763657	129435716	1234	22159											
PSD4	23550	broad.mit.edu	37	chr2	113941078	113941078	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgcagcacctcctggtcacGgggagagtgaggtaagccca	9	6	14	12	1	1	2	1	1	0	1	2	3	2	2	3	4	3	3	3	4	1	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:113941078G>A	ENST00000245796.6	+	2	1240	c.1045G>A	c.(1045-1047)Ggg>Agg	p.G349R	PSD4_ENST00000441564.3_Missense_Mutation_p.G349R	NM_012455.2	NP_036587.2	Q8NDX1	PSD4_HUMAN	pleckstrin and Sec7 domain containing 4	349					neuron differentiation (GO:0030182)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|phospholipid binding (GO:0005543)			cervix(1)|endometrium(2)|large_intestine(4)|lung(13)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						TCCTGGTCACGGGGAGAGTGA	0.612																																						ENST00000245796.6																			0				cervix(1)|endometrium(2)|large_intestine(4)|lung(13)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(1045-1047)Ggg>Agg		pleckstrin and Sec7 domain containing 4																																				SO:0001583	missense	23550				regulation of ARF protein signal transduction	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity	g.chr2:113941078G>A	U63127	CCDS33276.1	2q13	2013-01-10			ENSG00000125637	ENSG00000125637		"Pleckstrin homology (PH) domain containing"	19096	protein-coding gene	gene with protein product		614442				12082148	Standard	XM_005263634		Approved	TIC, EFA6B	uc002tjc.3	Q8NDX1	OTTHUMG00000153339	ENST00000245796.6:c.1045G>A	2.37:g.113941078G>A	ENSP00000245796:p.Gly349Arg					PSD4_ENST00000441564.2_Missense_Mutation_p.G349R	p.G349R	NM_012455.2	NP_036587.2	Q8NDX1	PSD4_HUMAN			2	1240	+			349					A6NEG7|A8K1Y0|O95621|Q4ZG34|Q6GPH8|Q8IYP4	Missense_Mutation	SNP	ENST00000245796.6	37	c.1045G>A	CCDS33276.1	.	.	.	.	.	.	.	.	.	.	G	11.27	1.588667	0.28357	.	.	ENSG00000125637	ENST00000245796;ENST00000441564	T;T	0.12361	2.83;2.69	5.49	0.547	0.17202	.	1.970240	0.01880	N	0.037806	T	0.10078	0.0247	L	0.27053	0.805	0.09310	N	1	B;B	0.21225	0.04;0.053	B;B	0.09377	0.003;0.004	T	0.25117	-1.0141	9	.	.	.	.	4.8987	0.13764	0.3198:0.0:0.5399:0.1403	.	349;349	Q8NDX1-2;Q8NDX1	.;PSD4_HUMAN	R	349	ENSP00000245796:G349R;ENSP00000413997:G349R	.	G	+	1	0	PSD4	113657549	0.001000	0.12720	0.000000	0.03702	0.009000	0.06853	0.804000	0.27098	0.100000	0.17581	-0.811000	0.03165	GGG		0.612	PSD4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000330789.1	NM_012455		7	15	0	0	0	1	0	7	15					A	113941078	G	A	113941078	3	1	435	1	0	0	0	0	1	0	0	0	12649	1116	39	2	1047	2	PSD4	2	113941078	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	177421	113941078	129258295	1235	22160											
PAX8	7849	broad.mit.edu	37	chr2	113977703	113977703	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttggggaagcgccaggcctcGctgtaggaggagtagggggt	7	7	20	7	2	0	0	0	0	0	0	1	3	0	3	2	7	1	3	2	7	3	3	rs200817352		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:113977703G>A	ENST00000429538.3	-	11	1436	c.1242C>T	c.(1240-1242)agC>agT	p.S414S	PAX8_ENST00000397647.3_Missense_Mutation_p.A277V|PAX8_ENST00000263335.7_Missense_Mutation_p.A311V|PAX8_ENST00000348715.5_Missense_Mutation_p.A388V|AC016683.6_ENST00000456685.1_RNA|PAX8_ENST00000263334.5_Missense_Mutation_p.A388V	NM_003466.3	NP_003457.1	Q06710	PAX8_HUMAN	paired box 8	414					anatomical structure morphogenesis (GO:0009653)|branching involved in ureteric bud morphogenesis (GO:0001658)|cellular response to gonadotropin stimulus (GO:0071371)|central nervous system development (GO:0007417)|inner ear morphogenesis (GO:0042472)|kidney development (GO:0001822)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|mesonephros development (GO:0001823)|metanephric comma-shaped body morphogenesis (GO:0072278)|metanephric distal convoluted tubule development (GO:0072221)|metanephric epithelium development (GO:0072207)|metanephric nephron tubule formation (GO:0072289)|metanephric S-shaped body morphogenesis (GO:0072284)|negative regulation of apoptotic process involved in metanephric collecting duct development (GO:1900215)|negative regulation of apoptotic process involved in metanephric nephron tubule development (GO:1900218)|negative regulation of mesenchymal cell apoptotic process involved in metanephric nephron morphogenesis (GO:0072305)|negative regulation of mesenchymal cell apoptotic process involved in metanephros development (GO:1900212)|otic vesicle development (GO:0071599)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0072108)|positive regulation of metanephric DCT cell differentiation (GO:2000594)|positive regulation of thyroid hormone generation (GO:2000611)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|pronephric field specification (GO:0039003)|pronephros development (GO:0048793)|regulation of apoptotic process (GO:0042981)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)|regulation of thyroid-stimulating hormone secretion (GO:2000612)|thyroid gland development (GO:0030878)|thyroid-stimulating hormone signaling pathway (GO:0038194)|transcription, DNA-templated (GO:0006351)|urogenital system development (GO:0001655)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|thyroid-stimulating hormone receptor activity (GO:0004996)|transcription regulatory region DNA binding (GO:0044212)		PAX8/PPARG(117)	breast(1)|endometrium(4)|kidney(2)|large_intestine(1)|liver(1)|lung(9)|ovary(1)|skin(1)	20						GCCAGGCCTCGCTGTAGGAGG	0.617			T	PPARG	follicular thyroid		Thyroid dysgenesis						G|||	1	0.000199681	0	0	5008	,	,		18112	0.001		0	False		,,,				2504	0				Ovarian(188;7 2067 9084 29802 29892)	ENST00000348715.5				Dom	yes		2	2q12-q14	7849	T	paired box gene 8	yes	Thyroid dysgenesis	E	PPARG		follicular thyroid	PAX8/PPARG(117)	0				breast(1)|endometrium(4)|kidney(2)|large_intestine(1)|liver(1)|lung(9)|ovary(1)|skin(1)	20						c.(1162-1164)gCg>gTg		paired box 8		G	,VAL/ALA,VAL/ALA,VAL/ALA	1,3909		0,1,1954	36	37	37		1242,1163,932,830	-1.6	0.9	2		37	0,8272		0,0,4136	yes	coding-synonymous,missense,missense,missense	PAX8	NM_003466.3,NM_013952.3,NM_013953.3,NM_013992.3	,64,64,64	0,1,6090	AA,AG,GG		0.0,0.0256,0.0082	,,,	414/451,388/399,311/322,277/288	113977703	1,12181	1955	4136	6091	SO:0001819	synonymous_variant	7849				branching involved in ureteric bud morphogenesis|cellular response to gonadotropin stimulus|central nervous system development|mesenchymal to epithelial transition involved in metanephros morphogenesis|mesonephros development|metanephric collecting duct development|metanephric comma-shaped body morphogenesis|metanephric distal convoluted tubule development|metanephric nephron tubule formation|metanephric S-shaped body morphogenesis|negative regulation of mesenchymal stem cell apoptosis involved in metanephric nephron morphogenesis|otic vesicle development|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|positive regulation of metanephric DCT cell differentiation|positive regulation of thyroid hormone generation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|pronephric field specification|regulation of metanephric nephron tubule epithelial cell differentiation|regulation of thyroid-stimulating hormone secretion|thyroid gland development|transcription, DNA-dependent	nucleoplasm	protein binding|RNA polymerase II core promoter sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|thyroid-stimulating hormone receptor activity	g.chr2:113977703G>A	X69699	CCDS42735.1, CCDS42736.1, CCDS46398.1, CCDS46399.1	2q13	2011-06-20	2007-07-12		ENSG00000125618	ENSG00000125618		"Paired boxes", "Homeoboxes / PRD class"	8622	protein-coding gene	gene with protein product		167415	"paired box gene 8"			8431641, 7981748	Standard	NM_003466		Approved		uc010yxt.2	Q06710	OTTHUMG00000128529	ENST00000429538.3:c.1242C>T	2.37:g.113977703G>A						PAX8_ENST00000263334.5_Missense_Mutation_p.A388V|PAX8_ENST00000263335.7_Missense_Mutation_p.A311V|AC016683.6_ENST00000456685.1_RNA|PAX8_ENST00000429538.3_Silent_p.S414S|PAX8_ENST00000397647.3_Missense_Mutation_p.A277V	p.A388V	NM_013952.3	NP_039246.1	Q06710	PAX8_HUMAN			11	1318	-			0					Q09155|Q16337|Q16338|Q16339|Q4ZG35|Q96J49	Missense_Mutation	SNP	ENST00000429538.3	37	c.1163C>T	CCDS46398.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	3.522|3.522	-0.097629|-0.097629	0.07010|0.07010	2.56E-4|2.56E-4	0.0|0.0	ENSG00000125618|ENSG00000125618	ENST00000263335;ENST00000397647;ENST00000348715;ENST00000263334|ENST00000468980	D;D;D;D|.	0.97959|.	-4.63;-4.56;-4.42;-4.42|.	4.29|4.29	-1.58|-1.58	0.08479|0.08479	.|.	.|.	.|.	.|.	.|.	T|.	0.19725|.	0.0474|.	.|.	.|.	.|.	0.25680|0.25680	N|N	0.9858|0.9858	B;B;B|.	0.09022|.	0.001;0.002;0.001|.	B;B;B|.	0.04013|.	0.001;0.001;0.001|.	T|.	0.24119|.	-1.0169|.	8|.	0.62326|.	D|.	0.03|.	.|.	1.3681|1.3681	0.02205|0.02205	0.448:0.1485:0.2527:0.1508|0.448:0.1485:0.2527:0.1508	.|.	388;277;311|.	Q06710-3;Q06710-5;Q06710-4|.	.;.;.|.	V|X	311;277;388;388|137	ENSP00000263335:A311V;ENSP00000380768:A277V;ENSP00000314750:A388V;ENSP00000263334:A388V|.	ENSP00000263334:A388V|.	A|R	-|-	2|1	0|2	PAX8|PAX8	113694174|113694174	0.004000|0.004000	0.15560|0.15560	0.889000|0.889000	0.34880|0.34880	0.990000|0.990000	0.78478|0.78478	-0.678000|-0.678000	0.05209|0.05209	-0.621000|-0.621000	0.05633|0.05633	-0.444000|-0.444000	0.05651|0.05651	GCG|CGA		0.617	PAX8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250353.5			7	14	0	0	0	1	0	7	14					A	113977703	G	A	113977703	2	1	435	1	0	0	0	0	0	0	0	1	11485	1087	38	1		1	PAX8	2	113977703	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	36625	113977703	129221670	1236	22161											
CBWD2	150472	broad.mit.edu	37	chr2	114195456	114195456	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtaggccggaatgttaccggCtgttggatctgcggatgagg	7	10	17	7	3	1	1	0	1	1	0	1	4	1	4	2	6	2	4	2	6	3	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:114195456C>G	ENST00000259199.4	+	1	189	c.11C>G	c.(10-12)gCt>gGt	p.A4G	RP11-480C16.1_ENST00000608834.1_lincRNA|CBWD2_ENST00000433343.2_5'UTR|CBWD2_ENST00000416503.2_Missense_Mutation_p.A4G	NM_172003.3	NP_742000.1	Q8IUF1	CBWD2_HUMAN	COBW domain containing 2	4							ATP binding (GO:0005524)			endometrium(1)|lung(1)	2						ATGTTACCGGCTGTTGGATCT	0.627																																						ENST00000259199.4																			0				endometrium(1)|lung(1)	2						c.(10-12)gCt>gGt		COBW domain containing 2							26	31	29					2																	114195456		2154	4220	6374	SO:0001583	missense	150472						ATP binding|protein binding	g.chr2:114195456C>G	AF452722	CCDS2116.1	2q14.1	2005-08-22			ENSG00000136682	ENSG00000136682			17907	protein-coding gene	gene with protein product		611079				12421752, 15233989	Standard	NM_172003		Approved		uc002tju.3	Q8IUF1	OTTHUMG00000131360	ENST00000259199.4:c.11C>G	2.37:g.114195456C>G	ENSP00000259199:p.Ala4Gly					CBWD2_ENST00000433343.2_5'UTR|CBWD2_ENST00000416503.2_Missense_Mutation_p.A4G	p.A4G	NM_172003.3	NP_742000.1	Q8IUF1	CBWD2_HUMAN			1	189	+			4					Q0VAN3	Missense_Mutation	SNP	ENST00000259199.4	37	c.11C>G	CCDS2116.1	.	.	.	.	.	.	.	.	.	.	.	12.04	1.819286	0.32145	.	.	ENSG00000136682	ENST00000259199;ENST00000376448;ENST00000448780;ENST00000416503	T;T	0.08807	3.05;3.05	2.85	2.85	0.33270	.	0.677960	0.13379	N	0.392288	T	0.07188	0.0182	L	0.29908	0.895	0.58432	D	0.999992	B	0.06786	0.001	B	0.06405	0.002	T	0.16424	-1.0403	10	0.66056	D	0.02	-19.2668	9.3401	0.38074	0.0:1.0:0.0:0.0	.	4	Q8IUF1	CBWD2_HUMAN	G	4	ENSP00000259199:A4G;ENSP00000411906:A4G	ENSP00000259199:A4G	A	+	2	0	CBWD2	113911926	0.000000	0.05858	0.004000	0.12327	0.044000	0.14063	0.865000	0.27940	1.617000	0.50277	0.398000	0.26397	GCT		0.627	CBWD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254149.3	NM_172003		34	44	0	0	0	1	0	34	44					G	114195456	C	G	114195456	3	3	435	1	0	0	0	0	1	0	0	0	2713	797	28	5	13	5	CBWD2	2	114195456	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	217753	114195456	129003917	1237	22162											
DDX18	8886	broad.mit.edu	37	chr2	118582239	118582239	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaggagccattgtatgttggCgttgatgatgataaagcgaa	13	11	13	4	2	0	3	0	3	0	0	0	5	0	4	1	2	2	3	1	2	5	5	rs200212017		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:118582239C>T	ENST00000263239.2	+	8	1289	c.1161C>T	c.(1159-1161)ggC>ggT	p.G387G		NM_006773.3	NP_006764.3	Q9NVP1	DDX18_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 18	387					ATP catabolic process (GO:0006200)	membrane (GO:0016020)|nucleolus (GO:0005730)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(2)|kidney(4)|large_intestine(3)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						TGTATGTTGGCGTTGATGATG	0.398													C|||	1	0.000199681	0	0	5008	,	,		19802	0.001		0	False		,,,				2504	0					ENST00000263239.2																			0				breast(2)|endometrium(2)|kidney(4)|large_intestine(3)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						c.(1159-1161)ggC>ggT		DEAD (Asp-Glu-Ala-Asp) box polypeptide 18							165	162	163					2																	118582239		2203	4300	6503	SO:0001819	synonymous_variant	8886						ATP binding|ATP-dependent RNA helicase activity|RNA binding	g.chr2:118582239C>T	X98743	CCDS2120.1	2q21.2	2008-02-05	2003-06-13		ENSG00000088205	ENSG00000088205		"DEAD-boxes"	2741	protein-coding gene	gene with protein product		606355	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 18 (Myc-regulated)"			8861962	Standard	NM_006773		Approved	MrDb	uc002tlh.1	Q9NVP1	OTTHUMG00000058521	ENST00000263239.2:c.1161C>T	2.37:g.118582239C>T							p.G387G	NM_006773.3	NP_006764.3	Q9NVP1	DDX18_HUMAN			8	1289	+			387					Q6GTZ9|Q6IAU4|Q92732|Q9BQB7	Silent	SNP	ENST00000263239.2	37	c.1161C>T	CCDS2120.1																																																																																				0.398	DDX18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129632.3	NM_006773		52	81	0	0	0	1	0	52	81					T	118582239	C	T	118582239	2	4	435	1	0	0	0	0	0	0	0	1	4345	755	27	1		1	DDX18	2	118582239	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	4386783	118582239	124617134	1238	22163											
CCDC93	54520	broad.mit.edu	37	chr2	118701610	118701610	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttttactcacctgtagtaaaCgtatcttgtaaagtttctct	10	18	5	8	1	3	0	1	0	2	0	4	0	3	0	1	0	2	5	1	0	7	8			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:118701610C>T	ENST00000376300.2	-	18	1540	c.1403G>A	c.(1402-1404)cGt>cAt	p.R468H	CCDC93_ENST00000319432.5_Missense_Mutation_p.R467H	NM_019044.4	NP_061917.3	Q567U6	CCD93_HUMAN	coiled-coil domain containing 93	468										breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(2)	29						CTGTAGTAAACGTATCTTGTA	0.323																																						ENST00000376300.2																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(2)	29						c.(1402-1404)cGt>cAt		coiled-coil domain containing 93							197	188	191					2																	118701610		2203	4299	6502	SO:0001583	missense	54520							g.chr2:118701610C>T	BC028609	CCDS2121.2	2q14.1	2008-02-05			ENSG00000125633	ENSG00000125633			25611	protein-coding gene	gene with protein product						12477932	Standard	NM_019044		Approved	FLJ10996	uc002tlj.3	Q567U6	OTTHUMG00000058517	ENST00000376300.2:c.1403G>A	2.37:g.118701610C>T	ENSP00000365477:p.Arg468His					CCDC93_ENST00000319432.5_Missense_Mutation_p.R467H	p.R468H	NM_019044.4	NP_061917.3	Q567U6	CCD93_HUMAN			18	1540	-			468					A8K3V7|Q4LE78|Q53TJ2|Q8TBX5|Q9H6R5|Q9NV15	Missense_Mutation	SNP	ENST00000376300.2	37	c.1403G>A	CCDS2121.2	.	.	.	.	.	.	.	.	.	.	C	27.2	4.813440	0.90790	.	.	ENSG00000125633	ENST00000376300;ENST00000319432	T;T	0.21734	2.01;1.99	5.35	5.35	0.76521	.	0.000000	0.85682	D	0.000000	T	0.50171	0.1600	M	0.84326	2.69	0.58432	D	0.999995	D	0.89917	1.0	D	0.76575	0.988	T	0.51028	-0.8757	10	0.54805	T	0.06	-8.4654	16.0896	0.81084	0.0:1.0:0.0:0.0	.	468	Q567U6	CCD93_HUMAN	H	468;467	ENSP00000365477:R468H;ENSP00000324135:R467H	ENSP00000324135:R467H	R	-	2	0	CCDC93	118418080	0.999000	0.42202	1.000000	0.80357	0.988000	0.76386	5.233000	0.65337	2.791000	0.96007	0.561000	0.74099	CGT		0.323	CCDC93-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000129615.1	NM_019044		17	32	0	0	0	1	0	17	32					T	118701610	C	T	118701610	3	4	435	1	0	0	0	0	1	0	0	0	2872	536	19	1	520	1	CCDC93	2	118701610	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	119371	118701610	124497763	1239	22164											
SCTR	6344	broad.mit.edu	37	chr2	120210887	120210887	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	catcttccagaaagtgtctgGcaatagcccacaaagcaaca	15	7	7	12	0	2	1	0	0	2	1	3	1	3	1	2	1	3	2	2	1	5	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:120210887G>A	ENST00000019103.5	-	8	1094	c.827C>T	c.(826-828)gCc>gTc	p.A276V		NM_002980.2	NP_002971.2	P47872	SCTR_HUMAN	secretin receptor	276					digestion (GO:0007586)|excretion (GO:0007588)|G-protein coupled receptor signaling pathway (GO:0007186)	cytoplasmic microtubule (GO:0005881)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	secretin receptor activity (GO:0015055)			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3)	19					Secretin(DB00021)	AAAGTGTCTGGCAATAGCCCA	0.423																																						ENST00000019103.5																			0				central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3)	19						c.(826-828)gCc>gTc		secretin receptor	Secretin(DB00021)						83	76	78					2																	120210887		2203	4300	6503	SO:0001583	missense	6344				digestion|excretion	integral to plasma membrane	secretin receptor activity	g.chr2:120210887G>A		CCDS2127.1	2q14.1	2012-08-10			ENSG00000080293	ENSG00000080293		"GPCR / Class B : Glucagon receptors"	10608	protein-coding gene	gene with protein product		182098				1646711	Standard	NM_002980		Approved		uc002tma.3	P47872	OTTHUMG00000131407	ENST00000019103.5:c.827C>T	2.37:g.120210887G>A	ENSP00000019103:p.Ala276Val						p.A276V	NM_002980.2	NP_002971.2	P47872	SCTR_HUMAN			8	1094	-			276					Q12961|Q13213|Q53T00	Missense_Mutation	SNP	ENST00000019103.5	37	c.827C>T	CCDS2127.1	.	.	.	.	.	.	.	.	.	.	G	0.010	-1.742786	0.00675	.	.	ENSG00000080293	ENST00000019103	T	0.39406	1.08	4.52	1.62	0.23740	GPCR, family 2-like (1);	0.584870	0.16249	N	0.222811	T	0.19005	0.0456	N	0.10945	0.07	0.09310	N	1	B	0.12630	0.006	B	0.23018	0.043	T	0.31052	-0.9957	10	0.02654	T	1	.	8.9135	0.35568	0.0802:0.3008:0.6191:0.0	.	276	P47872	SCTR_HUMAN	V	276	ENSP00000019103:A276V	ENSP00000019103:A276V	A	-	2	0	SCTR	119927357	0.699000	0.27786	0.817000	0.32601	0.044000	0.14063	1.221000	0.32503	0.218000	0.20820	0.655000	0.94253	GCC		0.423	SCTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254198.2			16	33	0	0	0	1	0	16	33					A	120210887	G	A	120210887	3	1	435	1	0	0	0	0	1	0	0	0	13943	1203	42	3	519	3	SCTR	2	120210887	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	1509277	120210887	122988486	1240	22165											
PTPN4	5775	broad.mit.edu	37	chr2	120714453	120714453	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaaacctggaatgacaatgTcctgtgccaaattacctcag	15	9	7	10	0	1	1	1	1	0	0	2	2	2	2	4	1	3	0	4	1	6	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:120714453T>G	ENST00000263708.2	+	21	2785	c.2014T>G	c.(2014-2016)Tcc>Gcc	p.S672A	PTPN4_ENST00000544261.1_Missense_Mutation_p.S305A	NM_002830.3	NP_002821.1	P29074	PTN4_HUMAN	protein tyrosine phosphatase, non-receptor type 4 (megakaryocyte)	672	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoskeleton (GO:0005856)	non-membrane spanning protein tyrosine phosphatase activity (GO:0004726)			endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|urinary_tract(1)	30					Alendronate(DB00630)	AATGACAATGTCCTGTGCCAA	0.294																																						ENST00000263708.2																			0				endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|urinary_tract(1)	30						c.(2014-2016)Tcc>Gcc		protein tyrosine phosphatase, non-receptor type 4 (megakaryocyte)	Alendronate(DB00630)						82	92	89					2																	120714453		2203	4296	6499	SO:0001583	missense	5775					cytoplasm|cytoskeleton|internal side of plasma membrane	cytoskeletal protein binding|non-membrane spanning protein tyrosine phosphatase activity	g.chr2:120714453T>G		CCDS2129.1	2q14.2	2011-06-09			ENSG00000088179	ENSG00000088179		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"	9656	protein-coding gene	gene with protein product		176878				1648233	Standard	NM_002830		Approved	PTPMEG	uc002tmf.2	P29074	OTTHUMG00000131436	ENST00000263708.2:c.2014T>G	2.37:g.120714453T>G	ENSP00000263708:p.Ser672Ala					PTPN4_ENST00000544261.1_Missense_Mutation_p.S305A	p.S672A	NM_002830.3	NP_002821.1	P29074	PTN4_HUMAN			21	2785	+			672			Tyrosine-protein phosphatase.		B2RBV8|Q9UDA7	Missense_Mutation	SNP	ENST00000263708.2	37	c.2014T>G	CCDS2129.1	.	.	.	.	.	.	.	.	.	.	T	11.15	1.554999	0.27739	.	.	ENSG00000088179	ENST00000263708;ENST00000544261	T;T	0.14266	2.52;2.52	5.39	5.39	0.77823	Protein-tyrosine phosphatase, receptor/non-receptor type (2);	0.277200	0.37483	N	0.002063	T	0.15696	0.0378	L	0.46819	1.47	0.48571	D	0.999679	B	0.06786	0.001	B	0.06405	0.002	T	0.01725	-1.1287	10	0.59425	D	0.04	.	15.3991	0.74823	0.0:0.0:0.0:1.0	.	672	P29074	PTN4_HUMAN	A	672;305	ENSP00000263708:S672A;ENSP00000445841:S305A	ENSP00000263708:S672A	S	+	1	0	PTPN4	120430923	1.000000	0.71417	1.000000	0.80357	0.251000	0.25915	2.544000	0.45761	2.028000	0.59812	0.533000	0.62120	TCC		0.294	PTPN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254233.2			23	65	0	0	0	1	0	23	65					G	120714453	T	G	120714453	3	3	435	1	0	0	0	0	1	0	0	0	12790	1667	58	5	2092	5	PTPN4	2	120714453	Missense_Mutation	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	503566	120714453	122484920	1241	22166											
GLI2	2736	broad.mit.edu	37	chr2	121746949	121746949	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aatgaggtgagctccggcacCgtagacgccctggccagcca	9	5	13	14	3	0	3	0	2	0	1	1	3	1	3	5	3	2	3	5	3	2	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:121746949C>T	ENST00000452319.1	+	14	3519	c.3459C>T	c.(3457-3459)acC>acT	p.T1153T	GLI2_ENST00000314490.11_Intron|GLI2_ENST00000361492.4_Silent_p.T1153T					GLI family zinc finger 2											NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(3;0.0496)	Prostate(154;0.0623)				GCTCCGGCACCGTAGACGCCC	0.622																																						ENST00000452319.1																			0				NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						c.(3457-3459)acC>acT		GLI family zinc finger 2							27	25	26					2																	121746949		2177	4254	6431	SO:0001819	synonymous_variant	2736				axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr2:121746949C>T		CCDS33283.1	2q14	2013-01-25	2009-03-05		ENSG00000074047	ENSG00000074047		"Zinc fingers, C2H2-type"	4318	protein-coding gene	gene with protein product	"tax-responsive element-2 holding protein", "tax helper protein 1", "tax helper protein 2"	165230	"GLI-Kruppel family member GLI2", "glioma-associated oncogene family zinc finger 2"			2850480, 9557682	Standard	NM_005270		Approved	THP2, HPE9, THP1	uc010flp.3	P10070	OTTHUMG00000153741	ENST00000452319.1:c.3459C>T	2.37:g.121746949C>T						GLI2_ENST00000314490.11_Intron|GLI2_ENST00000361492.4_Silent_p.T1153T	p.T1153T			P10070	GLI2_HUMAN			14	3519	+	Renal(3;0.0496)	Prostate(154;0.0623)	1153						Silent	SNP	ENST00000452319.1	37	c.3459C>T	CCDS33283.1																																																																																				0.622	GLI2-009	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332293.3	NM_005270		13	17	0	0	0	1	0	13	17					T	121746949	C	T	121746949	2	4	435	1	0	0	0	0	0	0	0	1	6438	639	23	2		2	GLI2	2	121746949	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	1032496	121746949	121452424	1242	22167											
CLASP1	23332	broad.mit.edu	37	chr2	122215273	122215273	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	taaaatttaccttctaactgCgacagacttagaggtacagt	14	12	7	8	1	1	2	0	0	1	2	1	3	1	2	1	1	4	1	1	1	6	7			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:122215273C>T	ENST00000263710.4	-	14	1764	c.1375G>A	c.(1375-1377)Gca>Aca	p.A459T	CLASP1_ENST00000541377.1_Missense_Mutation_p.A459T|CLASP1_ENST00000409078.3_Missense_Mutation_p.A459T|CLASP1_ENST00000430234.1_5'Flank|CLASP1_ENST00000541859.1_Missense_Mutation_p.A228T|CLASP1_ENST00000455322.2_Missense_Mutation_p.A459T|CLASP1_ENST00000545861.1_Missense_Mutation_p.A227T|CLASP1_ENST00000397587.3_Missense_Mutation_p.A459T	NM_015282.2	NP_056097.1	Q7Z460	CLAP1_HUMAN	cytoplasmic linker associated protein 1	459					axon guidance (GO:0007411)|cell division (GO:0051301)|establishment of spindle orientation (GO:0051294)|establishment or maintenance of cell polarity (GO:0007163)|exit from mitosis (GO:0010458)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule anchoring (GO:0034453)|microtubule bundle formation (GO:0001578)|microtubule cytoskeleton organization (GO:0000226)|microtubule nucleation (GO:0007020)|microtubule organizing center organization (GO:0031023)|mitotic cell cycle (GO:0000278)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of microtubule polymerization or depolymerization (GO:0031111)	cell cortex (GO:0005938)|centrosomal corona (GO:0031592)|centrosome (GO:0005813)|cortical microtubule cytoskeleton (GO:0030981)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|kinetochore (GO:0000776)|kinetochore microtubule (GO:0005828)|membrane (GO:0016020)|spindle microtubule (GO:0005876)	kinetochore binding (GO:0043515)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)			NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)	47	Renal(3;0.0496)					CTTCTAACTGCGACAGACTTA	0.338																																						ENST00000263710.4																			0				NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)	47						c.(1375-1377)Gca>Aca		cytoplasmic linker associated protein 1							92	85	87					2																	122215273		1831	4095	5926	SO:0001583	missense	23332				axon guidance|cell division|establishment or maintenance of cell polarity|exit from mitosis|G2/M transition of mitotic cell cycle|microtubule anchoring|microtubule bundle formation|microtubule nucleation|microtubule organizing center organization|mitotic prometaphase|negative regulation of microtubule depolymerization	centrosomal corona|condensed chromosome kinetochore|cortical microtubule cytoskeleton|cytoplasmic microtubule|cytosol|Golgi apparatus|kinetochore microtubule	kinetochore binding|microtubule plus-end binding	g.chr2:122215273C>T	AB014522		2q14.2-q14.3	2013-01-18			ENSG00000074054	ENSG00000074054			17088	protein-coding gene	gene with protein product	"multiple asters 1"	605852				9734811, 10899121, 16914514	Standard	NM_015282		Approved	KIAA0622, MAST1	uc002tnc.3	Q7Z460	OTTHUMG00000153331	ENST00000263710.4:c.1375G>A	2.37:g.122215273C>T	ENSP00000263710:p.Ala459Thr					CLASP1_ENST00000455322.2_Missense_Mutation_p.A459T|CLASP1_ENST00000409078.3_Missense_Mutation_p.A459T|CLASP1_ENST00000541377.1_Missense_Mutation_p.A459T|CLASP1_ENST00000541859.1_Missense_Mutation_p.A228T|CLASP1_ENST00000397587.3_Missense_Mutation_p.A459T|CLASP1_ENST00000545861.1_Missense_Mutation_p.A227T	p.A459T	NM_015282.2	NP_056097.1	Q7Z460	CLAP1_HUMAN			14	1764	-	Renal(3;0.0496)		459					B7ZLX3|O75118|Q2KHQ9|Q5H9P0|Q8N5B8|Q9BQT5	Missense_Mutation	SNP	ENST00000263710.4	37	c.1375G>A		.	.	.	.	.	.	.	.	.	.	C	33	5.202633	0.94997	.	.	ENSG00000074054	ENST00000263710;ENST00000455322;ENST00000397587;ENST00000541377;ENST00000541859;ENST00000409078;ENST00000545861	T;T;T;T;T;T;T	0.41758	0.99;0.99;0.99;0.99;0.99;0.99;0.99	5.81	5.81	0.92471	Armadillo-like helical (1);Armadillo-type fold (2);CLASP N-terminal domain (1);	0.000000	0.85682	D	0.000000	T	0.67297	0.2878	M	0.75447	2.3	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.997;0.996;0.998;0.999	T	0.65952	-0.6043	10	0.49607	T	0.09	-17.933	20.089	0.97809	0.0:1.0:0.0:0.0	.	459;459;459;459	E7EUA5;F5GWS0;B7ZLX3;Q7Z460	.;.;.;CLAP1_HUMAN	T	459;459;459;459;228;459;227	ENSP00000263710:A459T;ENSP00000389372:A459T;ENSP00000380717:A459T;ENSP00000441625:A459T;ENSP00000441770:A228T;ENSP00000386442:A459T;ENSP00000438620:A227T	ENSP00000263710:A459T	A	-	1	0	CLASP1	121931743	1.000000	0.71417	0.988000	0.46212	0.947000	0.59692	7.743000	0.85020	2.752000	0.94435	0.557000	0.71058	GCA		0.338	CLASP1-201	KNOWN	basic	protein_coding	protein_coding		NM_015282		13	22	0	0	0	1	0	13	22					T	122215273	C	T	122215273	3	4	435	1	0	0	0	0	1	0	0	0	3454	768	27	1	3401	1	CLASP1	2	122215273	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	468324	122215273	120984100	1243	22168											
CNTNAP5	129684	broad.mit.edu	37	chr2	125521312	125521312	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcactcagatagttatcacTgataccgacagatcaaactc	14	10	6	11	1	4	3	4	1	0	2	5	4	4	3	1	0	2	1	1	0	4	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:125521312T>C	ENST00000431078.1	+	15	2659	c.2295T>C	c.(2293-2295)acT>acC	p.T765T		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	765	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		TAGTTATCACTGATACCGACA	0.408																																						ENST00000431078.1																			0				NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176						c.(2293-2295)acT>acC		contactin associated protein-like 5							87	80	82					2																	125521312		1846	4100	5946	SO:0001819	synonymous_variant	129684				cell adhesion|signal transduction	integral to membrane	receptor binding	g.chr2:125521312T>C	AB077881	CCDS46401.1	2q14.1	2008-02-05			ENSG00000155052	ENSG00000155052			18748	protein-coding gene	gene with protein product		610519					Standard	NM_130773		Approved	caspr5, FLJ31966	uc002tno.3	Q8WYK1	OTTHUMG00000153356	ENST00000431078.1:c.2295T>C	2.37:g.125521312T>C							p.T765T	NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.248)	15	2659	+			765			Fibrinogen C-terminal.		Q4ZFW2|Q4ZG21|Q53R09|Q53RX1|Q53SG3|Q584P3|Q96MS7	Silent	SNP	ENST00000431078.1	37	c.2295T>C	CCDS46401.1																																																																																				0.408	CNTNAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330864.3			6	22	0	0	0	1	0	6	22					C	125521312	T	C	125521312	2	2	435	1	0	0	0	0	0	0	0	1	3650	1567	55	4		4	CNTNAP5	2	125521312	Silent	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	3306039	125521312	117678061	1244	22169											
CNTNAP5	129684	broad.mit.edu	37	chr2	125521700	125521700	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tagaaaatcttggcattaaaGacttcattcgactcgaaata	16	12	6	7	2	2	2	1	0	1	2	4	4	2	2	0	1	0	1	0	1	7	6			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:125521700G>A	ENST00000431078.1	+	16	2870	c.2506G>A	c.(2506-2508)Gac>Aac	p.D836N		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	836	Laminin G-like 3. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		TGGCATTAAAGACTTCATTCG	0.373																																						ENST00000431078.1																			0				NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176						c.(2506-2508)Gac>Aac		contactin associated protein-like 5							117	111	113					2																	125521700		1831	4074	5905	SO:0001583	missense	129684				cell adhesion|signal transduction	integral to membrane	receptor binding	g.chr2:125521700G>A	AB077881	CCDS46401.1	2q14.1	2008-02-05			ENSG00000155052	ENSG00000155052			18748	protein-coding gene	gene with protein product		610519					Standard	NM_130773		Approved	caspr5, FLJ31966	uc002tno.3	Q8WYK1	OTTHUMG00000153356	ENST00000431078.1:c.2506G>A	2.37:g.125521700G>A	ENSP00000399013:p.Asp836Asn						p.D836N	NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.248)	16	2870	+			836			Laminin G-like 3.		Q4ZFW2|Q4ZG21|Q53R09|Q53RX1|Q53SG3|Q584P3|Q96MS7	Missense_Mutation	SNP	ENST00000431078.1	37	c.2506G>A	CCDS46401.1	.	.	.	.	.	.	.	.	.	.	G	33	5.218089	0.95104	.	.	ENSG00000155052	ENST00000431078	D	0.83673	-1.75	5.75	5.75	0.90469	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.250114	0.27113	N	0.020876	D	0.88066	0.6337	M	0.92970	3.365	0.80722	D	1	B	0.18968	0.032	B	0.19391	0.025	D	0.85273	0.1057	10	0.44086	T	0.13	.	18.9356	0.92584	0.0:0.0:1.0:0.0	.	836	Q8WYK1	CNTP5_HUMAN	N	836	ENSP00000399013:D836N	ENSP00000399013:D836N	D	+	1	0	CNTNAP5	125238170	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.739000	0.84976	2.724000	0.93272	0.655000	0.94253	GAC		0.373	CNTNAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330864.3			26	40	0	0	0	1	0	26	40					A	125521700	G	A	125521700	3	1	435	1	0	0	0	0	1	0	0	0	3650	942	33	3	2568	3	CNTNAP5	2	125521700	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	388	125521700	117677673	1245	22170											
CNTNAP5	129684	broad.mit.edu	37	chr2	125660566	125660566	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caccactgaaggctgccctgCgccatgccactgtcgcgcct	6	7	10	18	3	0	1	0	1	0	0	1	1	0	1	5	1	3	1	5	1	1	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:125660566C>T	ENST00000431078.1	+	22	3905	c.3541C>T	c.(3541-3543)Cgc>Tgc	p.R1181C		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	1181	Laminin G-like 4. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)		p.R1181S(1)		NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		GGCTGCCCTGCGCCATGCCAC	0.537																																						ENST00000431078.1																			1	Substitution - Missense(1)	p.R1181S(1)	lung(1)	NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176						c.(3541-3543)Cgc>Tgc		contactin associated protein-like 5							63	64	64					2																	125660566		2132	4255	6387	SO:0001583	missense	129684				cell adhesion|signal transduction	integral to membrane	receptor binding	g.chr2:125660566C>T	AB077881	CCDS46401.1	2q14.1	2008-02-05			ENSG00000155052	ENSG00000155052			18748	protein-coding gene	gene with protein product		610519					Standard	NM_130773		Approved	caspr5, FLJ31966	uc002tno.3	Q8WYK1	OTTHUMG00000153356	ENST00000431078.1:c.3541C>T	2.37:g.125660566C>T	ENSP00000399013:p.Arg1181Cys						p.R1181C	NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.248)	22	3905	+			1181			Laminin G-like 4.		Q4ZFW2|Q4ZG21|Q53R09|Q53RX1|Q53SG3|Q584P3|Q96MS7	Missense_Mutation	SNP	ENST00000431078.1	37	c.3541C>T	CCDS46401.1	.	.	.	.	.	.	.	.	.	.	C	18.72	3.683548	0.68157	.	.	ENSG00000155052	ENST00000431078	D	0.89485	-2.52	5.5	5.5	0.81552	Laminin G domain (1);	0.000000	0.49916	D	0.000128	D	0.95319	0.8481	M	0.87269	2.87	0.58432	D	0.999998	D	0.89917	1.0	D	0.83275	0.996	D	0.95685	0.8735	10	0.72032	D	0.01	.	18.4001	0.90513	0.0:1.0:0.0:0.0	.	1181	Q8WYK1	CNTP5_HUMAN	C	1181	ENSP00000399013:R1181C	ENSP00000399013:R1181C	R	+	1	0	CNTNAP5	125377036	1.000000	0.71417	1.000000	0.80357	0.250000	0.25880	5.850000	0.69473	2.597000	0.87782	0.655000	0.94253	CGC		0.537	CNTNAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330864.3			6	16	0	0	0	1	0	6	16					T	125660566	C	T	125660566	3	4	435	1	0	0	0	0	1	0	0	0	3650	768	27	1	3627	1	CNTNAP5	2	125660566	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	138866	125660566	117538807	1246	22171											
MAP3K2	10746	broad.mit.edu	37	chr2	128065338	128065338	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcttcaaattcagcccaaggCggcttttcagttagcatttc	9	13	8	11	1	3	0	3	0	0	0	4	0	3	0	1	2	2	4	1	2	3	6	rs373785879		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:128065338C>T	ENST00000409947.1	-	17	1959	c.1677G>A	c.(1675-1677)ccG>ccA	p.P559P	MAP3K2_ENST00000344908.5_Silent_p.P559P			Q9Y2U5	M3K2_HUMAN	mitogen-activated protein kinase kinase kinase 2	559	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of JUN kinase activity (GO:0007257)|activation of MAPK activity (GO:0000187)|cellular response to mechanical stimulus (GO:0071260)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)			central_nervous_system(1)|large_intestine(1)|lung(3)|ovary(2)	7	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0706)	Bosutinib(DB06616)	CAGCCCAAGGCGGCTTTTCAG	0.408																																						ENST00000409947.1																			0				central_nervous_system(1)|large_intestine(1)|lung(3)|ovary(2)	7						c.(1675-1677)ccG>ccA		mitogen-activated protein kinase kinase kinase 2		C		0,3970		0,0,1985	52	52	52		1677	-11.1	0.8	2		52	1,8347		0,1,4173	no	coding-synonymous	MAP3K2	NM_006609.4		0,1,6158	TT,TC,CC		0.012,0.0,0.0081		559/620	128065338	1,12317	1985	4174	6159	SO:0001819	synonymous_variant	10746				activation of JUN kinase activity|cellular response to mechanical stimulus	nucleus	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein kinase binding	g.chr2:128065338C>T	AF111105	CCDS46404.1	2q21.1	2011-06-09			ENSG00000169967	ENSG00000169967		"Mitogen-activated protein kinase cascade / Kinase kinase kinases"	6854	protein-coding gene	gene with protein product	"MAP/ERK kinase kinase 2"	609487		MEKK2		8621389, 10085062	Standard	NM_006609		Approved	MEKK2B	uc002toj.2	Q9Y2U5	OTTHUMG00000153397	ENST00000409947.1:c.1677G>A	2.37:g.128065338C>T						MAP3K2_ENST00000344908.5_Silent_p.P559P	p.P559P			Q9Y2U5	M3K2_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0706)	17	1959	-	Colorectal(110;0.1)		559			Protein kinase.		B9EG87|Q53QL9|Q53S75|Q59GZ6|Q8NC32|Q9NYK3	Silent	SNP	ENST00000409947.1	37	c.1677G>A	CCDS46404.1																																																																																				0.408	MAP3K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331014.1	NM_006609		4	5	0	0	0	1	0	4	5					T	128065338	C	T	128065338	2	4	435	1	0	0	0	0	0	0	0	1	9250	755	27	1		1	MAP3K2	2	128065338	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	2404772	128065338	115134035	1247	22172											
PROC	5624	broad.mit.edu	37	chr2	128186326	128186326	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cctcggggaccggcaggatgCctgcgagggcgacagtgggg	6	4	20	11	4	0	0	0	0	0	0	1	4	0	2	3	7	2	1	3	7	0	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:128186326C>T	ENST00000234071.3	+	9	1277	c.1190C>T	c.(1189-1191)gCc>gTc	p.A397V	PROC_ENST00000422777.3_Missense_Mutation_p.A397V|PROC_ENST00000453608.2_Missense_Mutation_p.A452V|PROC_ENST00000409048.1_Missense_Mutation_p.A431V	NM_000312.3	NP_000303.1	P04070	PROC_HUMAN	protein C (inactivator of coagulation factors Va and VIIIa)	397	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|leukocyte migration (GO:0050900)|negative regulation of apoptotic process (GO:0043066)|negative regulation of blood coagulation (GO:0030195)|peptidyl-glutamic acid carboxylation (GO:0017187)|post-translational protein modification (GO:0043687)|proteolysis (GO:0006508)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|serine-type endopeptidase activity (GO:0004252)			endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)	15	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0673)	Antihemophilic Factor(DB00025)|Menadione(DB00170)|Sodium Tetradecyl Sulfate(DB00464)	CGGCAGGATGCCTGCGAGGGC	0.647																																						ENST00000453608.2																			0				endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)	15	GRCh37	CM981643	PROC	M		c.(1354-1356)gCc>gTc		protein C (inactivator of coagulation factors Va and VIIIa)	Antihemophilic Factor(DB00025)|Drotrecogin alfa(DB00055)|Menadione(DB00170)|Sodium Tetradecyl Sulfate(DB00464)						61	69	67					2																	128186326		2203	4300	6503	SO:0001583	missense	5624				blood coagulation|leukocyte migration|negative regulation of apoptosis|negative regulation of blood coagulation|peptidyl-glutamic acid carboxylation|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|Golgi lumen|plasma membrane	calcium ion binding|protein binding|serine-type endopeptidase activity	g.chr2:128186326C>T	X02750	CCDS2145.1	2q13-q14	2014-01-30			ENSG00000115718	ENSG00000115718		"Endogenous ligands"	9451	protein-coding gene	gene with protein product	"prepro-protein C"	612283				2991887, 2437584	Standard	NM_000312		Approved		uc002tok.3	P04070	OTTHUMG00000131528	ENST00000234071.3:c.1190C>T	2.37:g.128186326C>T	ENSP00000234071:p.Ala397Val					PROC_ENST00000422777.3_Missense_Mutation_p.A397V|PROC_ENST00000409048.1_Missense_Mutation_p.A431V|PROC_ENST00000234071.3_Missense_Mutation_p.A397V	p.A452V			P04070	PROC_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0673)	8	1363	+	Colorectal(110;0.1)		397					B4DPQ7|Q15189|Q15190|Q16001|Q53S74|Q9UC55	Missense_Mutation	SNP	ENST00000234071.3	37	c.1355C>T	CCDS2145.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	24.1|24.1	4.488295|4.488295	0.84854|0.84854	.|.	.|.	ENSG00000115718|ENSG00000115718	ENST00000234071;ENST00000537436;ENST00000453608;ENST00000409048;ENST00000422777|ENST00000402125	D;D;D;D|.	0.93426|.	-3.22;-3.22;-3.22;-3.22|.	4.84|4.84	4.84|4.84	0.62591|0.62591	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);|.	0.000000|.	0.43747|.	D|.	0.000527|.	T|T	0.71753|0.71753	0.3377|0.3377	L|L	0.58302|0.58302	1.8|1.8	0.80722|0.80722	D|D	1|1	D;D;D;D|.	0.89917|.	1.0;1.0;1.0;1.0|.	D;D;D;D|.	0.83275|.	0.993;0.992;0.996;0.993|.	T|T	0.69888|0.69888	-0.5023|-0.5023	10|5	0.87932|.	D|.	0|.	.|.	18.1613|18.1613	0.89708|0.89708	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	452;453;431;397|.	B4DPQ7;B4DPQ3;E7END6;P04070|.	.;.;.;PROC_HUMAN|.	V|S	397;356;452;431;397|172	ENSP00000234071:A397V;ENSP00000404030:A452V;ENSP00000386679:A431V;ENSP00000409543:A397V|.	ENSP00000234071:A397V|.	A|P	+|+	2|1	0|0	PROC|PROC	127902796|127902796	1.000000|1.000000	0.71417|0.71417	0.990000|0.990000	0.47175|0.47175	0.366000|0.366000	0.29705|0.29705	7.504000|7.504000	0.81646|0.81646	2.523000|2.523000	0.85059|0.85059	0.655000|0.655000	0.94253|0.94253	GCC|CCT		0.647	PROC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254385.2	NM_000312		40	48	0	0	0	1	0	40	48					T	128186326	C	T	128186326	3	4	435	1	0	0	0	0	1	0	0	0	12545	739	26	3	1220	3	PROC	2	128186326	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	120988	128186326	115013047	1248	22173											
PROC	5624	broad.mit.edu	37	chr2	128186435	128186435	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggctccttcacaactacggCgtttacaccaaagtcagccg	10	8	9	14	3	2	0	2	0	0	0	3	0	3	0	3	2	4	2	3	2	4	4	rs151319700		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:128186435C>T	ENST00000234071.3	+	9	1386	c.1299C>T	c.(1297-1299)ggC>ggT	p.G433G	PROC_ENST00000422777.3_Silent_p.G433G|PROC_ENST00000453608.2_Silent_p.G488G|PROC_ENST00000409048.1_Silent_p.G467G	NM_000312.3	NP_000303.1	P04070	PROC_HUMAN	protein C (inactivator of coagulation factors Va and VIIIa)	433	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.		G -> S (in patients with PROC deficiency; Purmerend).		blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|leukocyte migration (GO:0050900)|negative regulation of apoptotic process (GO:0043066)|negative regulation of blood coagulation (GO:0030195)|peptidyl-glutamic acid carboxylation (GO:0017187)|post-translational protein modification (GO:0043687)|proteolysis (GO:0006508)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|serine-type endopeptidase activity (GO:0004252)			endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)	15	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0673)	Antihemophilic Factor(DB00025)|Menadione(DB00170)|Sodium Tetradecyl Sulfate(DB00464)	ACAACTACGGCGTTTACACCA	0.637													C|||	1	0.000199681	0	0	5008	,	,		16923	0		0.001	False		,,,				2504	0					ENST00000453608.2																			0				endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)	15						c.(1462-1464)ggC>ggT		protein C (inactivator of coagulation factors Va and VIIIa)	Antihemophilic Factor(DB00025)|Drotrecogin alfa(DB00055)|Menadione(DB00170)|Sodium Tetradecyl Sulfate(DB00464)	C		0,4406		0,0,2203	91	96	94		1299	-3.6	0	2	dbSNP_134	94	4,8596	3.7+/-12.6	0,4,4296	no	coding-synonymous	PROC	NM_000312.3		0,4,6499	TT,TC,CC		0.0465,0.0,0.0308		433/462	128186435	4,13002	2203	4300	6503	SO:0001819	synonymous_variant	5624				blood coagulation|leukocyte migration|negative regulation of apoptosis|negative regulation of blood coagulation|peptidyl-glutamic acid carboxylation|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|Golgi lumen|plasma membrane	calcium ion binding|protein binding|serine-type endopeptidase activity	g.chr2:128186435C>T	X02750	CCDS2145.1	2q13-q14	2014-01-30			ENSG00000115718	ENSG00000115718		"Endogenous ligands"	9451	protein-coding gene	gene with protein product	"prepro-protein C"	612283				2991887, 2437584	Standard	NM_000312		Approved		uc002tok.3	P04070	OTTHUMG00000131528	ENST00000234071.3:c.1299C>T	2.37:g.128186435C>T						PROC_ENST00000422777.3_Silent_p.G433G|PROC_ENST00000409048.1_Silent_p.G467G|PROC_ENST00000234071.3_Silent_p.G433G	p.G488G			P04070	PROC_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0673)	8	1472	+	Colorectal(110;0.1)		433					B4DPQ7|Q15189|Q15190|Q16001|Q53S74|Q9UC55	Silent	SNP	ENST00000234071.3	37	c.1464C>T	CCDS2145.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	5.934	0.356335	0.11239	0.0	4.65E-4	ENSG00000115718	ENST00000402125	.	.	.	5.16	-3.62	0.04543	.	.	.	.	.	T	0.39200	0.1069	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.29971	-0.9994	4	.	.	.	.	2.56	0.04770	0.1293:0.1921:0.1742:0.5044	.	.	.	.	V	208	.	.	A	+	2	0	PROC	127902905	0.001000	0.12720	0.035000	0.18076	0.893000	0.52053	-0.577000	0.05847	-1.060000	0.03189	-0.982000	0.02568	GCG		0.637	PROC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254385.2	NM_000312		35	66	0	0	0	1	0	35	66					T	128186435	C	T	128186435	2	4	435	1	0	0	0	0	0	0	0	1	12545	755	27	1		1	PROC	2	128186435	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	109	128186435	115012938	1249	22174											
IWS1	55677	broad.mit.edu	37	chr2	128262295	128262295	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cttcactatcagaaagcacaGcagcttttctcttcgctact	10	13	5	13	1	3	1	2	0	1	1	5	1	3	1	0	0	4	4	0	0	3	6	rs541513565		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:128262295G>T	ENST00000295321.4	-	3	1443	c.1184C>A	c.(1183-1185)gCt>gAt	p.A395D	IWS1_ENST00000486662.1_5'Flank|IWS1_ENST00000455721.2_Missense_Mutation_p.A402D|AC010976.2_ENST00000599001.1_RNA	NM_017969.2	NP_060439.2	Q96ST2	IWS1_HUMAN	IWS1 homolog (S. cerevisiae)	395	Glu-rich.				mRNA processing (GO:0006397)|mRNA transport (GO:0051028)|regulation of histone H3-K36 trimethylation (GO:2001253)|regulation of histone H4 acetylation (GO:0090239)|regulation of mRNA export from nucleus (GO:0010793)|regulation of mRNA processing (GO:0050684)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)			cervix(1)|endometrium(2)|kidney(6)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	28	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0735)		AGAAAGCACAGCAGCTTTTCT	0.398													G|||	1	0.000199681	0	0	5008	,	,		21623	0		0	False		,,,				2504	0.001					ENST00000295321.4																			0				cervix(1)|endometrium(2)|kidney(6)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	28						c.(1183-1185)gCt>gAt		IWS1 homolog (S. cerevisiae)							270	269	269					2																	128262295		2203	4300	6503	SO:0001583	missense	55677				transcription, DNA-dependent	nucleus	DNA binding	g.chr2:128262295G>T	AK000868	CCDS2146.1	2q14.3	2006-03-17			ENSG00000163166	ENSG00000163166			25467	protein-coding gene	gene with protein product							Standard	NM_017969		Approved	DKFZp761G0123, FLJ10006, FLJ14655, FLJ32319	uc002ton.2	Q96ST2	OTTHUMG00000131527	ENST00000295321.4:c.1184C>A	2.37:g.128262295G>T	ENSP00000295321:p.Ala395Asp					IWS1_ENST00000455721.2_Missense_Mutation_p.A402D|AC010976.2_ENST00000599001.1_RNA	p.A395D	NM_017969.2	NP_060439.2	Q96ST2	IWS1_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0735)	3	1443	-	Colorectal(110;0.1)		395			Glu-rich.		Q2TB65|Q6P157|Q8N3E8|Q96MI7|Q9NV97|Q9NWH8	Missense_Mutation	SNP	ENST00000295321.4	37	c.1184C>A	CCDS2146.1	.	.	.	.	.	.	.	.	.	.	G	12.51	1.959546	0.34565	.	.	ENSG00000163166	ENST00000295321;ENST00000433551;ENST00000455721	T;T	0.58506	1.34;0.33	5.37	5.37	0.77165	.	0.000000	0.85682	D	0.000000	T	0.72407	0.3456	M	0.61703	1.905	0.54753	D	0.999982	D	0.89917	1.0	D	0.87578	0.998	T	0.65932	-0.6048	10	0.12430	T	0.62	-20.4889	19.1198	0.93358	0.0:0.0:1.0:0.0	.	395	Q96ST2	IWS1_HUMAN	D	395;348;402	ENSP00000295321:A395D;ENSP00000399245:A402D	ENSP00000295321:A395D	A	-	2	0	IWS1	127978765	0.990000	0.36364	0.970000	0.41538	0.001000	0.01503	4.567000	0.60850	2.511000	0.84671	0.563000	0.77884	GCT		0.398	IWS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254384.2	NM_017969		46	100	1	0	1.62263e-30	1	1.81924e-30	46	100					T	128262295	G	T	128262295	3	4	435	1	0	0	0	0	1	0	0	0	7931	971	34	5	1323	5	IWS1	2	128262295	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	75860	128262295	114937078	1250	22175											
MYO7B	4648	broad.mit.edu	37	chr2	128322879	128322879	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aactcagtccagggtgtggaCgacatgatccgcctggggga	9	7	15	10	2	1	1	1	1	0	0	3	4	3	3	3	4	1	0	3	4	1	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:128322879C>T	ENST00000409816.2	+	3	236	c.204C>T	c.(202-204)gaC>gaT	p.D68D	MYO7B_ENST00000389524.4_Silent_p.D68D|MYO7B_ENST00000428314.1_Silent_p.D68D			Q6PIF6	MYO7B_HUMAN	myosin VIIB	68	Myosin motor.					extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		AGGGTGTGGACGACATGATCC	0.592																																						ENST00000389524.4																			0				breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75						c.(202-204)gaC>gaT		myosin VIIB							67	78	74					2																	128322879		2108	4225	6333	SO:0001819	synonymous_variant	4648					apical plasma membrane|myosin complex	actin binding|ATP binding|motor activity	g.chr2:128322879C>T		CCDS46405.1	2q21.1	2011-09-27			ENSG00000169994	ENSG00000169994		"Myosins / Myosin superfamily : Class VII"	7607	protein-coding gene	gene with protein product		606541				8022818, 8884266	Standard	NM_001080527		Approved		uc002top.3	Q6PIF6	OTTHUMG00000153419	ENST00000409816.2:c.204C>T	2.37:g.128322879C>T						MYO7B_ENST00000428314.1_Silent_p.D68D|MYO7B_ENST00000409816.2_Silent_p.D68D	p.D68D			Q6PIF6	MYO7B_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0753)	4	257	+	Colorectal(110;0.1)		68			Myosin head-like.		Q14786|Q8TEE1	Silent	SNP	ENST00000409816.2	37	c.204C>T	CCDS46405.1																																																																																				0.592	MYO7B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000331124.3	XM_291001		6	24	0	0	0	1	0	6	24					T	128322879	C	T	128322879	2	4	435	1	0	0	0	0	0	0	0	1	10083	535	19	1		1	MYO7B	2	128322879	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	60584	128322879	114876494	1251	22176											
MYO7B	4648	broad.mit.edu	37	chr2	128331595	128331595	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggggtgatcgagggcgcgcgCatcgagcaatttctcctgga	7	8	16	10	5	1	1	0	1	1	0	4	4	1	2	1	4	1	2	1	4	1	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:128331595C>T	ENST00000409816.2	+	6	725	c.693C>T	c.(691-693)cgC>cgT	p.R231R	MYO7B_ENST00000389524.4_Silent_p.R231R|MYO7B_ENST00000428314.1_Silent_p.R231R			Q6PIF6	MYO7B_HUMAN	myosin VIIB	231	Myosin motor.					extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		AGGGCGCGCGCATCGAGCAAT	0.582																																						ENST00000389524.4																			0				breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75						c.(691-693)cgC>cgT		myosin VIIB							86	97	93					2																	128331595		1915	4130	6045	SO:0001819	synonymous_variant	4648					apical plasma membrane|myosin complex	actin binding|ATP binding|motor activity	g.chr2:128331595C>T		CCDS46405.1	2q21.1	2011-09-27			ENSG00000169994	ENSG00000169994		"Myosins / Myosin superfamily : Class VII"	7607	protein-coding gene	gene with protein product		606541				8022818, 8884266	Standard	NM_001080527		Approved		uc002top.3	Q6PIF6	OTTHUMG00000153419	ENST00000409816.2:c.693C>T	2.37:g.128331595C>T						MYO7B_ENST00000428314.1_Silent_p.R231R|MYO7B_ENST00000409816.2_Silent_p.R231R	p.R231R			Q6PIF6	MYO7B_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0753)	7	746	+	Colorectal(110;0.1)		231			Myosin head-like.		Q14786|Q8TEE1	Silent	SNP	ENST00000409816.2	37	c.693C>T	CCDS46405.1																																																																																				0.582	MYO7B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000331124.3	XM_291001		10	54	0	0	0	1	0	10	54					T	128331595	C	T	128331595	2	4	435	1	0	0	0	0	0	0	0	1	10083	697	25	3		3	MYO7B	2	128331595	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	8716	128331595	114867778	1252	22177											
MYO7B	4648	broad.mit.edu	37	chr2	128390869	128390869	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagcccccgcaccaggtggaGgtggaggccgcagagcagaa	10	2	16	13	2	0	2	0	0	0	2	0	4	0	4	4	5	2	3	4	5	1	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:128390869G>T	ENST00000409816.2	+	38	5396	c.5364G>T	c.(5362-5364)gaG>gaT	p.E1788D	MYO7B_ENST00000389524.4_Missense_Mutation_p.E1789D|MYO7B_ENST00000428314.1_Missense_Mutation_p.E1788D|MYO7B_ENST00000409090.1_Missense_Mutation_p.E641D			Q6PIF6	MYO7B_HUMAN	myosin VIIB	1788	MyTH4 2. {ECO:0000255|PROSITE- ProRule:PRU00359}.					extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		ACCAGGTGGAGGTGGAGGCCG	0.667																																						ENST00000389524.4																			0				breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75						c.(5365-5367)gaG>gaT		myosin VIIB							36	42	40					2																	128390869		2061	4191	6252	SO:0001583	missense	4648					apical plasma membrane|myosin complex	actin binding|ATP binding|motor activity	g.chr2:128390869G>T		CCDS46405.1	2q21.1	2011-09-27			ENSG00000169994	ENSG00000169994		"Myosins / Myosin superfamily : Class VII"	7607	protein-coding gene	gene with protein product		606541				8022818, 8884266	Standard	NM_001080527		Approved		uc002top.3	Q6PIF6	OTTHUMG00000153419	ENST00000409816.2:c.5364G>T	2.37:g.128390869G>T	ENSP00000386461:p.Glu1788Asp					MYO7B_ENST00000428314.1_Missense_Mutation_p.E1788D|MYO7B_ENST00000409816.2_Missense_Mutation_p.E1788D|MYO7B_ENST00000409090.1_Missense_Mutation_p.E641D	p.E1789D			Q6PIF6	MYO7B_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0753)	39	5420	+	Colorectal(110;0.1)		1788			MyTH4 2.		Q14786|Q8TEE1	Missense_Mutation	SNP	ENST00000409816.2	37	c.5367G>T	CCDS46405.1	.	.	.	.	.	.	.	.	.	.	g	23.6	4.432835	0.83776	.	.	ENSG00000169994	ENST00000389524;ENST00000428314;ENST00000272666;ENST00000409816;ENST00000409090	D;D;D;D	0.95412	-3.7;-3.7;-3.7;-3.7	5.62	2.86	0.33363	MyTH4 domain (3);	0.000000	0.85682	D	0.000000	D	0.97586	0.9209	M	0.90650	3.135	0.42796	D	0.993911	D	0.89917	1.0	D	0.91635	0.999	D	0.97228	0.9882	10	0.87932	D	0	.	9.3549	0.38159	0.2845:0.0:0.7155:0.0	.	1788	Q6PIF6	MYO7B_HUMAN	D	1789;1788;884;1788;641	ENSP00000374175:E1789D;ENSP00000415090:E1788D;ENSP00000386461:E1788D;ENSP00000386850:E641D	ENSP00000272666:E884D	E	+	3	2	MYO7B	128107339	1.000000	0.71417	1.000000	0.80357	0.920000	0.55202	1.114000	0.31196	0.737000	0.32582	0.555000	0.69702	GAG		0.667	MYO7B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000331124.3	XM_291001		6	15	1	0	0.248553	1	0.248844	6	15					T	128390869	G	T	128390869	3	4	435	1	0	0	0	0	1	0	0	0	10083	991	35	5	5514	5	MYO7B	2	128390869	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	59274	128390869	114808504	1253	22178											
MYO7B	4648	broad.mit.edu	37	chr2	128391775	128391775	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggaggtggttgccaacacaCgggtgcgggatgtgtgtgac	7	9	18	7	2	0	1	0	1	0	0	0	3	0	3	1	5	3	1	1	5	1	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:128391775C>T	ENST00000409816.2	+	39	5490	c.5458C>T	c.(5458-5460)Cgg>Tgg	p.R1820W	MYO7B_ENST00000389524.4_Missense_Mutation_p.R1821W|MYO7B_ENST00000428314.1_Missense_Mutation_p.R1820W|MYO7B_ENST00000409090.1_Missense_Mutation_p.R673W			Q6PIF6	MYO7B_HUMAN	myosin VIIB	1820	FERM 2. {ECO:0000255|PROSITE- ProRule:PRU00084}.|MyTH4 3. {ECO:0000255|PROSITE- ProRule:PRU00359}.					extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		TGCCAACACACGGGTGCGGGA	0.637																																						ENST00000389524.4																			0				breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75						c.(5461-5463)Cgg>Tgg		myosin VIIB							25	29	27					2																	128391775		2018	4175	6193	SO:0001583	missense	4648					apical plasma membrane|myosin complex	actin binding|ATP binding|motor activity	g.chr2:128391775C>T		CCDS46405.1	2q21.1	2011-09-27			ENSG00000169994	ENSG00000169994		"Myosins / Myosin superfamily : Class VII"	7607	protein-coding gene	gene with protein product		606541				8022818, 8884266	Standard	NM_001080527		Approved		uc002top.3	Q6PIF6	OTTHUMG00000153419	ENST00000409816.2:c.5458C>T	2.37:g.128391775C>T	ENSP00000386461:p.Arg1820Trp					MYO7B_ENST00000428314.1_Missense_Mutation_p.R1820W|MYO7B_ENST00000409816.2_Missense_Mutation_p.R1820W|MYO7B_ENST00000409090.1_Missense_Mutation_p.R673W	p.R1821W			Q6PIF6	MYO7B_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0753)	40	5514	+	Colorectal(110;0.1)		1820			FERM 2.|MyTH4 3.		Q14786|Q8TEE1	Missense_Mutation	SNP	ENST00000409816.2	37	c.5461C>T	CCDS46405.1	.	.	.	.	.	.	.	.	.	.	c	16.37	3.103369	0.56291	.	.	ENSG00000169994	ENST00000389524;ENST00000428314;ENST00000272666;ENST00000409816;ENST00000409090	T;T;T;T	0.75477	-0.94;-0.94;-0.94;-0.94	5.14	4.17	0.49024	Band 4.1 domain (1);FERM domain (1);	0.220425	0.39083	N	0.001473	D	0.83644	0.5299	M	0.77486	2.375	0.37300	D	0.908654	D	0.89917	1.0	D	0.68483	0.958	D	0.86779	0.1978	10	0.66056	D	0.02	.	10.4838	0.44708	0.4442:0.5558:0.0:0.0	.	1820	Q6PIF6	MYO7B_HUMAN	W	1821;1820;916;1820;673	ENSP00000374175:R1821W;ENSP00000415090:R1820W;ENSP00000386461:R1820W;ENSP00000386850:R673W	ENSP00000272666:R916W	R	+	1	2	MYO7B	128108245	1.000000	0.71417	0.909000	0.35828	0.244000	0.25665	5.288000	0.65651	2.386000	0.81285	0.556000	0.70494	CGG		0.637	MYO7B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000331124.3	XM_291001		3	4	0	0	0	1	0	3	4					T	128391775	C	T	128391775	3	4	435	1	0	0	0	0	1	0	0	0	10083	527	19	1	5612	1	MYO7B	2	128391775	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	906	128391775	114807598	1254	22179											
LIMS2	55679	broad.mit.edu	37	chr2	128412098	128412098	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttgttcatggccttgatgaCgcggccaatgatgaactcac	9	11	11	10	2	2	4	2	4	0	0	2	4	2	4	2	2	1	2	2	2	2	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:128412098C>T	ENST00000355119.4	-	4	424	c.259G>A	c.(259-261)Gtc>Atc	p.V87I	LIMS2_ENST00000410011.1_Missense_Mutation_p.V82I|LIMS2_ENST00000545738.2_Missense_Mutation_p.V109I|LIMS2_ENST00000409455.1_Missense_Mutation_p.V82I|LIMS2_ENST00000409808.2_Missense_Mutation_p.V82I|LIMS2_ENST00000324938.5_Missense_Mutation_p.V111I	NM_001161403.1	NP_001154875.1	Q7Z4I7	LIMS2_HUMAN	LIM and senescent cell antigen-like domains 2	87	LIM zinc-binding 2. {ECO:0000255|PROSITE- ProRule:PRU00125}.				cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|negative regulation of apoptotic process (GO:0043066)|negative regulation of hepatocyte proliferation (GO:2000346)|negative regulation of neural precursor cell proliferation (GO:2000178)|positive regulation of integrin-mediated signaling pathway (GO:2001046)|single organismal cell-cell adhesion (GO:0016337)	cytosol (GO:0005829)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	zinc ion binding (GO:0008270)			endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0681)		GCCTTGATGACGCGGCCAATG	0.612																																						ENST00000409455.1																			0				endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						c.(244-246)Gtc>Atc		LIM and senescent cell antigen-like domains 2							153	138	143					2																	128412098		2203	4300	6503	SO:0001583	missense	55679				cell junction assembly	cytosol|focal adhesion|nucleus	zinc ion binding	g.chr2:128412098C>T	AF520987	CCDS2147.1, CCDS54394.1, CCDS54395.1, CCDS54396.1, CCDS58725.1	2q21.1	2008-02-05			ENSG00000072163	ENSG00000072163			16084	protein-coding gene	gene with protein product		607908					Standard	NM_017980		Approved		uc002tox.3	Q7Z4I7	OTTHUMG00000131529	ENST00000355119.4:c.259G>A	2.37:g.128412098C>T	ENSP00000347240:p.Val87Ile					LIMS2_ENST00000324938.5_Missense_Mutation_p.V111I|LIMS2_ENST00000355119.4_Missense_Mutation_p.V87I|LIMS2_ENST00000409808.2_Missense_Mutation_p.V82I|LIMS2_ENST00000410011.1_Missense_Mutation_p.V82I|LIMS2_ENST00000545738.2_Missense_Mutation_p.V109I	p.V82I			Q7Z4I7	LIMS2_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0681)	4	879	-	Colorectal(110;0.1)		87			LIM zinc-binding 2.		A6NLH0|B4DMV1|F5H6E6|Q7Z4I2|Q7Z4I6|Q7Z4I8|Q8NFE7|Q9HA13	Missense_Mutation	SNP	ENST00000355119.4	37	c.244G>A	CCDS54395.1	.	.	.	.	.	.	.	.	.	.	.	24.0	4.482916	0.84747	.	.	ENSG00000072163	ENST00000545738;ENST00000355119;ENST00000324938;ENST00000409455;ENST00000410109;ENST00000409808;ENST00000410011;ENST00000544917;ENST00000422034	D;D;D;D;D;D	0.87491	-2.26;-2.26;-2.26;-2.26;-2.26;-2.26	5.37	5.37	0.77165	Zinc finger, LIM-type (5);	0.000000	0.85682	D	0.000000	D	0.92701	0.7680	M	0.65320	2	0.80722	D	1	P;P;D	0.76494	0.887;0.498;0.999	B;B;D	0.76071	0.3;0.237;0.987	D	0.93125	0.6528	10	0.72032	D	0.01	.	19.0997	0.93269	0.0:1.0:0.0:0.0	.	109;87;111	F5H6E6;Q7Z4I7;Q7Z4I7-2	.;LIMS2_HUMAN;.	I	109;87;111;82;82;82;82;109;82	ENSP00000443794:V109I;ENSP00000347240:V87I;ENSP00000326888:V111I;ENSP00000386383:V82I;ENSP00000386637:V82I;ENSP00000387002:V82I	ENSP00000326888:V111I	V	-	1	0	LIMS2	128128568	1.000000	0.71417	0.937000	0.37676	0.879000	0.50718	7.707000	0.84623	2.523000	0.85059	0.609000	0.83330	GTC		0.612	LIMS2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000331133.2	NM_017980		33	33	0	0	0	1	0	33	33					T	128412098	C	T	128412098	3	4	435	1	0	0	0	0	1	0	0	0	8804	536	19	1	794	1	LIMS2	2	128412098	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	20323	128412098	114787275	1255	22180											
WDR33	55339	broad.mit.edu	37	chr2	128477099	128477099	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tggaggcccctgcatgcctcGgatctcctgaggacctctca	6	9	11	15	1	2	1	1	1	2	0	5	4	2	4	5	4	2	1	5	4	0	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:128477099G>A	ENST00000322313.4	-	16	2658	c.2500C>T	c.(2500-2502)Cga>Tga	p.R834*		NM_018383.4	NP_060853.3	Q9C0J8	WDR33_HUMAN	WD repeat domain 33	834					mRNA processing (GO:0006397)|postreplication repair (GO:0006301)|spermatogenesis (GO:0007283)	collagen trimer (GO:0005581)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0695)		TGCATGCCTCGGATCTCCTGA	0.627																																						ENST00000322313.4																			0				NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39						c.(2500-2502)Cga>Tga		WD repeat domain 33							31	34	33					2																	128477099		2203	4299	6502	SO:0001587	stop_gained	55339				postreplication repair|spermatogenesis	collagen|nucleus	protein binding	g.chr2:128477099G>A		CCDS2150.1, CCDS42746.1, CCDS46407.1	2q21.1	2013-01-09			ENSG00000136709	ENSG00000136709		"WD repeat domain containing"	25651	protein-coding gene	gene with protein product						11162572	Standard	NM_001006622		Approved	FLJ11294, WDC146, NET14	uc002tpg.2	Q9C0J8	OTTHUMG00000131534	ENST00000322313.4:c.2500C>T	2.37:g.128477099G>A	ENSP00000325377:p.Arg834*						p.R834*	NM_018383.4	NP_060853.3	Q9C0J8	WDR33_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0695)	16	2658	-	Colorectal(110;0.1)		834					Q05DP8|Q53FG9|Q587J1|Q69YF7|Q6NUQ0|Q9NUL1	Nonsense_Mutation	SNP	ENST00000322313.4	37	c.2500C>T	CCDS2150.1	.	.	.	.	.	.	.	.	.	.	G	38	6.817177	0.97861	.	.	ENSG00000136709	ENST00000322313	.	.	.	5.18	3.01	0.34805	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-11.5046	13.2463	0.60026	0.0:0.0:0.5408:0.4592	.	.	.	.	X	834	.	ENSP00000325377:R834X	R	-	1	2	WDR33	128193569	0.983000	0.35010	0.996000	0.52242	0.732000	0.41865	1.036000	0.30228	1.259000	0.44117	0.563000	0.77884	CGA		0.627	WDR33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331141.2	NM_018383		3	19	0	0	0	1	0	3	19					A	128477099	G	A	128477099	4	1	435	1	0	0	0	0	0	1	0	0	17284	1124	39	2	1538	2	WDR33	2	128477099	Nonsense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	65001	128477099	114722274	1256	22181											
AMMECR1L	83607	broad.mit.edu	37	chr2	128631466	128631466	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atagaggtgacagtagagtaCgtcgaagcagtagcagcaca	15	6	13	7	2	0	3	0	1	0	2	1	4	0	3	0	1	4	6	0	1	5	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:128631466C>T	ENST00000272647.5	-	3	603	c.343G>A	c.(343-345)Gta>Ata	p.V115I	AMMECR1L_ENST00000393001.1_Missense_Mutation_p.V115I	NM_001199140.1	NP_001186069.1	Q6DCA0	AMERL_HUMAN	AMMECR1-like	115	AMMECR1. {ECO:0000255|PROSITE- ProRule:PRU00467}.									central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)	9	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.07)		CAGTAGAGTACGTCGAAGCAG	0.552																																						ENST00000272647.5																			0				central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)	9						c.(343-345)Gta>Ata		AMMECR1-like							171	167	168					2																	128631466		2203	4300	6503	SO:0001583	missense	83607							g.chr2:128631466C>T		CCDS2152.1	2q21	2012-11-15	2012-11-15		ENSG00000144233	ENSG00000144233			28658	protein-coding gene	gene with protein product			"AMME chromosomal region gene 1-like"				Standard	NM_001199140		Approved	MGC4268	uc002tpl.3	Q6DCA0	OTTHUMG00000131535	ENST00000272647.5:c.343G>A	2.37:g.128631466C>T	ENSP00000272647:p.Val115Ile					AMMECR1L_ENST00000393001.1_Missense_Mutation_p.V115I	p.V115I	NM_001199140.1	NP_001186069.1	Q6DCA0	AMERL_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.07)	3	603	-	Colorectal(110;0.1)		115			AMMECR1.		B4E276	Missense_Mutation	SNP	ENST00000272647.5	37	c.343G>A	CCDS2152.1	.	.	.	.	.	.	.	.	.	.	C	27.1	4.797058	0.90453	.	.	ENSG00000144233	ENST00000272647;ENST00000393001	.	.	.	5.39	5.39	0.77823	AMMECR1 domain (2);	0.000000	0.64402	D	0.000002	T	0.63510	0.2517	M	0.77103	2.36	0.80722	D	1	P	0.52316	0.952	B	0.42593	0.392	T	0.69862	-0.5030	9	0.49607	T	0.09	-24.0506	19.1586	0.93522	0.0:1.0:0.0:0.0	.	115	Q6DCA0	AMERL_HUMAN	I	115	.	ENSP00000272647:V115I	V	-	1	0	AMMECR1L	128347936	1.000000	0.71417	0.255000	0.24374	0.856000	0.48823	7.440000	0.80464	2.532000	0.85374	0.655000	0.94253	GTA		0.552	AMMECR1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254392.1	NM_031445		37	56	0	0	0	1	0	37	56					T	128631466	C	T	128631466	3	4	435	1	0	0	0	0	1	0	0	0	579	536	19	1	613	1	AMMECR1L	2	128631466	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	154367	128631466	114567907	1257	22182											
UGGT1	56886	broad.mit.edu	37	chr2	128896335	128896335	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tgactctgaagatgttgatgGgatgcaagatgctggagtgg	10	11	16	4	0	1	5	0	3	1	2	1	7	1	7	0	3	2	3	0	3	2	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:128896335G>T	ENST00000259253.6	+	16	1675	c.1628G>T	c.(1627-1629)gGg>gTg	p.G543V	UGGT1_ENST00000375990.3_Missense_Mutation_p.G519V	NM_020120.3	NP_064505.1	Q9NYU2	UGGG1_HUMAN	UDP-glucose glycoprotein glucosyltransferase 1	543					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular vesicular exosome (GO:0070062)	UDP-glucose:glycoprotein glucosyltransferase activity (GO:0003980)|unfolded protein binding (GO:0051082)			NS(1)|breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(14)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						GATGTTGATGGGATGCAAGAT	0.378																																						ENST00000375990.3																			0				NS(1)|breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(14)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						c.(1555-1557)gGg>gTg		UDP-glucose glycoprotein glucosyltransferase 1							163	156	159					2																	128896335		2203	4300	6503	SO:0001583	missense	56886				'de novo' posttranslational protein folding|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|ER-Golgi intermediate compartment	UDP-glucose:glycoprotein glucosyltransferase activity|unfolded protein binding	g.chr2:128896335G>T	AF227905	CCDS2154.1	2q14.3	2009-07-23	2009-07-23	2009-07-23	ENSG00000136731	ENSG00000136731			15663	protein-coding gene	gene with protein product		605897	"UDP-glucose ceramide glucosyltransferase-like 1"	UGCGL1		10694380	Standard	NM_020120		Approved	HUGT1	uc002tps.3	Q9NYU2	OTTHUMG00000131570	ENST00000259253.6:c.1628G>T	2.37:g.128896335G>T	ENSP00000259253:p.Gly543Val					UGGT1_ENST00000259253.6_Missense_Mutation_p.G543V	p.G519V			Q9NYU2	UGGG1_HUMAN			16	1959	+			543					Q53QP2|Q53SL3|Q8IW30|Q9H8I4	Missense_Mutation	SNP	ENST00000259253.6	37	c.1556G>T	CCDS2154.1	.	.	.	.	.	.	.	.	.	.	G	16.75	3.210453	0.58343	.	.	ENSG00000136731	ENST00000375990;ENST00000259253	T;T	0.51574	0.7;0.7	5.1	4.19	0.49359	.	0.047075	0.85682	N	0.000000	T	0.62196	0.2408	M	0.85777	2.775	0.80722	D	1	D;P	0.56968	0.978;0.73	P;B	0.51918	0.684;0.205	T	0.66799	-0.5832	10	0.33940	T	0.23	.	14.908	0.70735	0.0:0.0:0.8555:0.1445	.	519;543	Q9NYU2-2;Q9NYU2	.;UGGG1_HUMAN	V	519;543	ENSP00000365158:G519V;ENSP00000259253:G543V	ENSP00000259253:G543V	G	+	2	0	UGGT1	128612805	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.097000	0.76967	1.217000	0.43442	0.650000	0.86243	GGG		0.378	UGGT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254435.2	NM_020120		43	69	1	0	1.62957e-23	1	1.81649e-23	43	69					T	128896335	G	T	128896335	3	4	435	1	0	0	0	0	1	0	0	0	16938	1232	43	5	1690	5	UGGT1	2	128896335	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	264869	128896335	114303038	1258	22183											
UGGT1	56886	broad.mit.edu	37	chr2	128910367	128910367	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ttttcttgcagggtgaactgCcccatgatcaagatgtggta	9	13	11	8	0	2	3	1	2	1	1	2	3	2	3	2	2	3	2	2	2	3	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:128910367C>T	ENST00000259253.6	+	19	2073	c.2026C>T	c.(2026-2028)Ccc>Tcc	p.P676S	UGGT1_ENST00000375990.3_Missense_Mutation_p.P652S	NM_020120.3	NP_064505.1	Q9NYU2	UGGG1_HUMAN	UDP-glucose glycoprotein glucosyltransferase 1	676					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular vesicular exosome (GO:0070062)	UDP-glucose:glycoprotein glucosyltransferase activity (GO:0003980)|unfolded protein binding (GO:0051082)			NS(1)|breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(14)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						GGGTGAACTGCCCCATGATCA	0.368																																						ENST00000375990.3																			0				NS(1)|breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(14)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						c.(1954-1956)Ccc>Tcc		UDP-glucose glycoprotein glucosyltransferase 1							108	102	104					2																	128910367		2203	4300	6503	SO:0001583	missense	56886				'de novo' posttranslational protein folding|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|ER-Golgi intermediate compartment	UDP-glucose:glycoprotein glucosyltransferase activity|unfolded protein binding	g.chr2:128910367C>T	AF227905	CCDS2154.1	2q14.3	2009-07-23	2009-07-23	2009-07-23	ENSG00000136731	ENSG00000136731			15663	protein-coding gene	gene with protein product		605897	"UDP-glucose ceramide glucosyltransferase-like 1"	UGCGL1		10694380	Standard	NM_020120		Approved	HUGT1	uc002tps.3	Q9NYU2	OTTHUMG00000131570	ENST00000259253.6:c.2026C>T	2.37:g.128910367C>T	ENSP00000259253:p.Pro676Ser					UGGT1_ENST00000259253.6_Missense_Mutation_p.P676S	p.P652S			Q9NYU2	UGGG1_HUMAN			19	2357	+			676					Q53QP2|Q53SL3|Q8IW30|Q9H8I4	Missense_Mutation	SNP	ENST00000259253.6	37	c.1954C>T	CCDS2154.1	.	.	.	.	.	.	.	.	.	.	C	0.802	-0.754966	0.03041	.	.	ENSG00000136731	ENST00000375990;ENST00000259253	T;T	0.26957	1.7;1.7	6.06	2.41	0.29592	.	0.327444	0.39210	N	0.001437	T	0.05135	0.0137	N	0.00583	-1.355	0.23528	N	0.99748	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.32052	-0.9921	9	.	.	.	.	2.2887	0.04133	0.1257:0.1367:0.1313:0.6063	.	652;676	Q9NYU2-2;Q9NYU2	.;UGGG1_HUMAN	S	652;676	ENSP00000365158:P652S;ENSP00000259253:P676S	.	P	+	1	0	UGGT1	128626837	1.000000	0.71417	0.710000	0.30468	0.386000	0.30323	1.058000	0.30504	0.175000	0.19841	-0.312000	0.09012	CCC		0.368	UGGT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254435.2	NM_020120		6	133	0	0	0	1	0	6	133					T	128910367	C	T	128910367	3	4	435	1	0	0	0	0	1	0	0	0	16938	739	26	3	2100	3	UGGT1	2	128910367	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	14032	128910367	114289006	1259	22184											
UGGT1	56886	broad.mit.edu	37	chr2	128944261	128944261	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttttaaccaaacaggatcTgcccaataacatgattcatc	14	13	4	10	0	2	1	1	1	1	0	3	2	2	2	2	1	4	0	2	1	4	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:128944261T>C	ENST00000259253.6	+	39	4411	c.4364T>C	c.(4363-4365)cTg>cCg	p.L1455P	UGGT1_ENST00000375990.3_Missense_Mutation_p.L1431P	NM_020120.3	NP_064505.1	Q9NYU2	UGGG1_HUMAN	UDP-glucose glycoprotein glucosyltransferase 1	1455	Glucosyltransferase. {ECO:0000250}.				'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular vesicular exosome (GO:0070062)	UDP-glucose:glycoprotein glucosyltransferase activity (GO:0003980)|unfolded protein binding (GO:0051082)			NS(1)|breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(14)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						AAACAGGATCTGCCCAATAAC	0.363																																						ENST00000375990.3																			0				NS(1)|breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(14)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						c.(4291-4293)cTg>cCg		UDP-glucose glycoprotein glucosyltransferase 1							138	119	126					2																	128944261		2203	4300	6503	SO:0001583	missense	56886				'de novo' posttranslational protein folding|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|ER-Golgi intermediate compartment	UDP-glucose:glycoprotein glucosyltransferase activity|unfolded protein binding	g.chr2:128944261T>C	AF227905	CCDS2154.1	2q14.3	2009-07-23	2009-07-23	2009-07-23	ENSG00000136731	ENSG00000136731			15663	protein-coding gene	gene with protein product		605897	"UDP-glucose ceramide glucosyltransferase-like 1"	UGCGL1		10694380	Standard	NM_020120		Approved	HUGT1	uc002tps.3	Q9NYU2	OTTHUMG00000131570	ENST00000259253.6:c.4364T>C	2.37:g.128944261T>C	ENSP00000259253:p.Leu1455Pro					UGGT1_ENST00000259253.6_Missense_Mutation_p.L1455P	p.L1431P			Q9NYU2	UGGG1_HUMAN			39	4695	+			1455			Glucosyltransferase (By similarity).		Q53QP2|Q53SL3|Q8IW30|Q9H8I4	Missense_Mutation	SNP	ENST00000259253.6	37	c.4292T>C	CCDS2154.1	.	.	.	.	.	.	.	.	.	.	T	22.0	4.234785	0.79800	.	.	ENSG00000136731	ENST00000375990;ENST00000259253	T;T	0.32988	1.43;1.43	5.38	5.38	0.77491	.	0.000000	0.64402	D	0.000001	T	0.69459	0.3113	H	0.97103	3.94	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.81040	-0.1113	9	.	.	.	.	15.566	0.76294	0.0:0.0:0.0:1.0	.	1455	Q9NYU2	UGGG1_HUMAN	P	1431;1455	ENSP00000365158:L1431P;ENSP00000259253:L1455P	.	L	+	2	0	UGGT1	128660731	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	7.448000	0.80631	2.254000	0.74563	0.533000	0.62120	CTG		0.363	UGGT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254435.2	NM_020120		42	48	0	0	0	1	0	42	48					C	128944261	T	C	128944261	3	2	435	1	0	0	0	0	1	0	0	0	16938	1580	55	4	4518	4	UGGT1	2	128944261	Missense_Mutation	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	33894	128944261	114255112	1260	22185											
HS6ST1	9394	broad.mit.edu	37	chr2	129026327	129026327	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcagctcctcaggcgtgggCgtgcgcccatcacacatatg	7	7	13	14	3	2	0	2	0	0	0	3	0	3	0	2	3	2	2	2	3	1	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:129026327C>T	ENST00000259241.6	-	2	658	c.645G>A	c.(643-645)acG>acA	p.T215T		NM_004807.2	NP_004798.3	O60243	H6ST1_HUMAN	heparan sulfate 6-O-sulfotransferase 1	215					angiogenesis (GO:0001525)|carbohydrate metabolic process (GO:0005975)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process, enzymatic modification (GO:0015015)|labyrinthine layer blood vessel development (GO:0060716)|lung alveolus development (GO:0048286)|neuron development (GO:0048666)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)	heparan sulfate 6-O-sulfotransferase activity (GO:0017095)|sulfotransferase activity (GO:0008146)	p.T215T(1)		endometrium(3)|liver(1)|lung(7)|pancreas(1)|prostate(2)|skin(1)	15	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.117)		CAGGCGTGGGCGTGCGCCCAT	0.652																																						ENST00000259241.6																			1	Substitution - coding silent(1)	p.T215T(1)	endometrium(1)	endometrium(3)|liver(1)|lung(7)|pancreas(1)|prostate(2)|skin(1)	15						c.(643-645)acG>acA		heparan sulfate 6-O-sulfotransferase 1							45	55	52					2																	129026327		2164	4267	6431	SO:0001819	synonymous_variant	9394				heparan sulfate proteoglycan biosynthetic process, enzymatic modification	integral to plasma membrane	sulfotransferase activity	g.chr2:129026327C>T	AB006179	CCDS42748.1	2q21	2010-03-19		2002-08-23	ENSG00000136720	ENSG00000136720		"Sulfotransferases, membrane-bound"	5201	protein-coding gene	gene with protein product		604846		HS6ST		9535912	Standard	NM_004807		Approved		uc002tpt.4	O60243	OTTHUMG00000153542	ENST00000259241.6:c.645G>A	2.37:g.129026327C>T							p.T215T	NM_004807.2	NP_004798.3	O60243	H6ST1_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.117)	2	658	-	Colorectal(110;0.1)		215					B4DEP2|B4DJ29|Q53SL2|Q9BVI1	Silent	SNP	ENST00000259241.6	37	c.645G>A	CCDS42748.1																																																																																				0.652	HS6ST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331572.1	NM_004807		22	25	0	0	0	1	0	22	25					T	129026327	C	T	129026327	2	4	435	1	0	0	0	0	0	0	0	1	7370	755	27	1		1	HS6ST1	2	129026327	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	82066	129026327	114173046	1261	22186											
POTEF	728378	broad.mit.edu	37	chr2	130877827	130877827	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gagtgtcttcatagcagagtCgtcgtggtctccagaagcgc	8	10	13	10	3	3	2	1	0	2	2	6	3	3	2	1	1	2	1	1	1	2	2	rs375199302		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:130877827C>T	ENST00000409914.2	-	3	661	c.262G>A	c.(262-264)Gac>Aac	p.D88N	POTEF_ENST00000357462.5_Missense_Mutation_p.D88N|POTEF_ENST00000360967.5_Missense_Mutation_p.D88N|POTEF_ENST00000361163.4_Missense_Mutation_p.D88N	NM_001099771.2	NP_001093241.1	A5A3E0	POTEF_HUMAN	POTE ankyrin domain family, member F	88					retina homeostasis (GO:0001895)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(28)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	53						ATAGCAGAGTCGTCGTGGTCT	0.617													.|||	1	0.000199681	8e-04	0	5008	,	,		19998	0		0	False		,,,				2504	0					ENST00000357462.5																			0				breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(28)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	53						c.(262-264)Gac>Aac		POTE ankyrin domain family, member F		C	ASN/ASP	4,4402		0,4,2199	92	119	110		262	0.6	0	2		110	0,8588		0,0,4294	no	missense	POTEF	NM_001099771.2	23	0,4,6493	TT,TC,CC		0.0,0.0908,0.0308	benign	88/1076	130877827	4,12990	2203	4294	6497	SO:0001583	missense	728378					cell cortex	ATP binding	g.chr2:130877827C>T	EF523384	CCDS46409.1	2q21.1	2013-01-10	2008-11-26	2008-11-26	ENSG00000196604	ENSG00000196604		"POTE ankyrin domain containing", "Ankyrin repeat domain containing"	33905	protein-coding gene	gene with protein product			"ANKRD26-like family C, member 1B"	A26C1B		17101985	Standard	NM_001099771		Approved	POTEACTIN, POTE2alpha	uc010fmh.2	A5A3E0	OTTHUMG00000153628	ENST00000409914.2:c.262G>A	2.37:g.130877827C>T	ENSP00000386786:p.Asp88Asn					POTEF_ENST00000361163.4_Missense_Mutation_p.D88N|POTEF_ENST00000409914.2_Missense_Mutation_p.D88N|POTEF_ENST00000360967.5_Missense_Mutation_p.D88N	p.D88N			A5A3E0	POTEF_HUMAN			1	355	-			88					A6NC34	Missense_Mutation	SNP	ENST00000409914.2	37	c.262G>A	CCDS46409.1	.	.	.	.	.	.	.	.	.	.	.	2.932	-0.220790	0.06061	9.08E-4	0.0	ENSG00000196604	ENST00000357462;ENST00000409914;ENST00000360967;ENST00000361163	T;T;T;T	0.78003	-1.14;-1.14;1.69;1.73	0.62	0.62	0.17637	.	.	.	.	.	T	0.55513	0.1925	L	0.33485	1.01	0.09310	N	1	P	0.47841	0.901	B	0.28991	0.097	T	0.45483	-0.9258	8	0.21540	T	0.41	.	.	.	.	.	88	A5A3E0	POTEF_HUMAN	N	88	ENSP00000350052:D88N;ENSP00000386786:D88N;ENSP00000354232:D88N;ENSP00000355012:D88N	ENSP00000350052:D88N	D	-	1	0	POTEF	130594297	0.000000	0.05858	0.001000	0.08648	0.017000	0.09413	0.176000	0.16782	0.596000	0.29794	0.164000	0.16699	GAC		0.617	POTEF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331889.2	NM_001099771		67	165	0	0	0	1	0	67	165					T	130877827	C	T	130877827	3	4	435	1	0	0	0	0	1	0	0	0	12265	884	31	2	3025	2	POTEF	2	130877827	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	1851500	130877827	112321546	1262	22187											
CCDC74B	91409	broad.mit.edu	37	chr2	130897505	130897505	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtggagaccttggggaaatgCgtggcttcttggtccctggg	5	11	17	8	1	1	1	0	0	1	1	2	3	2	2	2	6	1	1	2	6	1	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:130897505C>T	ENST00000310463.6	-	7	1103	c.966G>A	c.(964-966)acG>acA	p.T322T	CCDC74B_ENST00000392984.3_Silent_p.T424T|CCDC74B_ENST00000409943.3_Silent_p.T256T|MED15P9_ENST00000427638.1_RNA	NM_207310.2	NP_997193.1	Q96LY2	CC74B_HUMAN	coiled-coil domain containing 74B	322										endometrium(2)|large_intestine(1)|lung(3)	6	Colorectal(110;0.1)					TGGGGAAATGCGTGGCTTCTT	0.632																																						ENST00000392984.3																			0				endometrium(2)|large_intestine(1)|lung(3)	6						c.(1270-1272)acG>acA		coiled-coil domain containing 74B							35	37	36					2																	130897505		2200	4294	6494	SO:0001819	synonymous_variant	91409							g.chr2:130897505C>T		CCDS2155.1, CCDS58726.1	2q21.1	2006-11-29		2006-02-16	ENSG00000152076	ENSG00000152076			25267	protein-coding gene	gene with protein product							Standard	NM_001258307		Approved	DKFZp434E2321	uc002tqn.2	Q96LY2	OTTHUMG00000131629	ENST00000310463.6:c.966G>A	2.37:g.130897505C>T						CCDC74B_ENST00000310463.6_Silent_p.T322T|CCDC74B_ENST00000409943.3_Silent_p.T256T	p.T424T			Q96LY2	CC74B_HUMAN			6	2015	-	Colorectal(110;0.1)		322					Q6NW18	Silent	SNP	ENST00000310463.6	37	c.1272G>A	CCDS2155.1	.	.	.	.	.	.	.	.	.	.	.	6.380	0.438169	0.12104	.	.	ENSG00000152076	ENST00000409488	.	.	.	3.78	1.93	0.25924	.	.	.	.	.	T	0.50103	0.1596	.	.	.	0.33891	D	0.637397	.	.	.	.	.	.	T	0.57843	-0.7741	5	0.44086	T	0.13	.	6.3442	0.21341	0.0:0.7622:0.0:0.2378	.	.	.	.	H	220	.	ENSP00000386250:R220H	R	-	2	0	CCDC74B	130613975	0.018000	0.18449	0.133000	0.22050	0.075000	0.17131	0.216000	0.17585	0.372000	0.24591	0.450000	0.29827	CGC		0.632	CCDC74B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254522.3	NM_207310		16	23	0	0	0	1	0	16	23					T	130897505	C	T	130897505	2	4	435	1	0	0	0	0	0	0	0	1	2848	755	27	1		1	CCDC74B	2	130897505	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	19678	130897505	112301868	1263	22188											
SMPD4	55627	broad.mit.edu	37	chr2	130930032	130930032	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgtccaccaggatgaaataGgcacagtctgaagtacggac	13	7	11	10	1	1	2	0	2	1	0	2	4	2	4	2	3	1	2	2	3	4	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:130930032G>T	ENST00000409031.1	-	8	1814	c.666C>A	c.(664-666)gcC>gcA	p.A222A	SMPD4_ENST00000351288.6_Silent_p.A222A|SMPD4_ENST00000339679.7_Silent_p.A109A|SMPD4_ENST00000431183.2_Silent_p.A149A|SMPD4_ENST00000453750.1_Intron|SMPD4_ENST00000426662.2_Intron|SMPD4_ENST00000443958.2_Intron|SMPD4_ENST00000452225.2_Intron|SMPD4_ENST00000473720.1_Intron	NM_017951.4	NP_060421.2	Q9NXE4	NSMA3_HUMAN	sphingomyelin phosphodiesterase 4, neutral membrane (neutral sphingomyelinase-3)	183					cellular response to tumor necrosis factor (GO:0071356)|ceramide biosynthetic process (GO:0046513)|glycerophospholipid catabolic process (GO:0046475)|glycosphingolipid metabolic process (GO:0006687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)|sphingomyelin catabolic process (GO:0006685)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|trans-Golgi network (GO:0005802)	metal ion binding (GO:0046872)|sphingomyelin phosphodiesterase activity (GO:0004767)|sphingomyelin phosphodiesterase D activity (GO:0050290)			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(17)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	29	Colorectal(110;0.1)				Phosphatidylserine(DB00144)	GGATGAAATAGGCACAGTCTG	0.602																																						ENST00000409031.1																			0				breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(17)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	29						c.(664-666)gcC>gcA		sphingomyelin phosphodiesterase 4, neutral membrane (neutral sphingomyelinase-3)	Phosphatidylserine(DB00144)						49	55	53					2																	130930032		2203	4300	6503	SO:0001819	synonymous_variant	55627				sphingomyelin catabolic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|trans-Golgi network	metal ion binding|protein binding|sphingomyelin phosphodiesterase activity|sphingomyelin phosphodiesterase D activity	g.chr2:130930032G>T	AF052134	CCDS2156.2, CCDS42751.1, CCDS54398.1	2q21.1	2009-11-06			ENSG00000136699	ENSG00000136699			32949	protein-coding gene	gene with protein product		610457				16517606	Standard	NM_001171083		Approved	FLJ20297, FLJ20756, nSMase-3, KIAA1418, NSMASE3, NET13	uc002tqr.2	Q9NXE4	OTTHUMG00000131624	ENST00000409031.1:c.666C>A	2.37:g.130930032G>T						SMPD4_ENST00000453750.1_Intron|SMPD4_ENST00000339679.7_Silent_p.A109A|SMPD4_ENST00000426662.2_Intron|SMPD4_ENST00000431183.2_Silent_p.A149A|SMPD4_ENST00000452225.2_Intron|SMPD4_ENST00000443958.2_Intron|SMPD4_ENST00000351288.6_Silent_p.A222A|SMPD4_ENST00000473720.1_Intron	p.A222A	NM_017951.4	NP_060421.2	Q9NXE4	NSMA3_HUMAN			8	1814	-	Colorectal(110;0.1)		183					B4DM23|B4DQ31|B4DRB8|B4DWK7|B4E0L6|E7ESA2|E9PCE6|Q6FI76|Q6P1P7|Q6ZT43|Q9H0M2|Q9NW20|Q9NWL2|Q9P2C9	Silent	SNP	ENST00000409031.1	37	c.666C>A	CCDS42751.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	10.34|10.34	1.322891|1.322891	0.23994|0.23994	.|.	.|.	ENSG00000136699|ENSG00000136699	ENST00000430682|ENST00000439886	.|.	.|.	.|.	3.31|3.31	1.14|1.14	0.20703|0.20703	.|.	.|.	.|.	.|.	.|.	T|T	0.42585|0.42585	0.1209|0.1209	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.28004|0.28004	-1.0057|-1.0057	4|4	.|.	.|.	.|.	.|.	1.6288|1.6288	0.02728|0.02728	0.1379:0.2:0.4585:0.2035|0.1379:0.2:0.4585:0.2035	.|.	.|.	.|.	.|.	I|H	12|51	.|.	.|.	L|P	-|-	1|2	2|0	SMPD4|SMPD4	130646502|130646502	0.982000|0.982000	0.34865|0.34865	1.000000|1.000000	0.80357|0.80357	0.980000|0.980000	0.70556|0.70556	0.048000|0.048000	0.14078|0.14078	0.547000|0.547000	0.28938|0.28938	0.455000|0.455000	0.32223|0.32223	CTA|CCT		0.602	SMPD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254516.3	NM_017751		13	13	1	0	0.00244969	1	0.00248438	13	13					T	130930032	G	T	130930032	2	4	435	1	0	0	0	0	0	0	0	1	14807	987	35	5		5	SMPD4	2	130930032	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	32527	130930032	112269341	1264	22189											
PTPN18	26469	broad.mit.edu	37	chr2	131116855	131116855	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctccaggaagagggacacagCgactacattaatggcaactt	14	7	10	10	1	0	1	0	0	0	1	1	4	1	3	1	3	3	1	1	3	4	3	rs375420437		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:131116855C>T	ENST00000175756.5	+	3	353	c.252C>T	c.(250-252)agC>agT	p.S84S	PTPN18_ENST00000347849.3_Intron|PTPN18_ENST00000420717.1_3'UTR	NM_014369.3	NP_055184.2	Q99952	PTN18_HUMAN	protein tyrosine phosphatase, non-receptor type 18 (brain-derived)	84	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	non-membrane spanning protein tyrosine phosphatase activity (GO:0004726)			endometrium(1)|kidney(3)|large_intestine(2)|lung(5)|ovary(3)|prostate(1)	15	Colorectal(110;0.1)					AGGGACACAGCGACTACATTA	0.557																																						ENST00000175756.5																			0				endometrium(1)|kidney(3)|large_intestine(2)|lung(5)|ovary(3)|prostate(1)	15						c.(250-252)agC>agT		protein tyrosine phosphatase, non-receptor type 18 (brain-derived)							98	100	99					2																	131116855		2203	4300	6503	SO:0001819	synonymous_variant	26469					cytoplasm|nucleus	non-membrane spanning protein tyrosine phosphatase activity	g.chr2:131116855C>T	X79568	CCDS2161.1, CCDS46410.1	2q21	2011-06-09			ENSG00000072135	ENSG00000072135		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"	9649	protein-coding gene	gene with protein product		606587				8950995	Standard	NM_014369		Approved	BDP1	uc002trc.3	Q99952	OTTHUMG00000131630	ENST00000175756.5:c.252C>T	2.37:g.131116855C>T						PTPN18_ENST00000347849.3_Intron|PTPN18_ENST00000420717.1_3'UTR	p.S84S	NM_014369.3	NP_055184.2	Q99952	PTN18_HUMAN			3	353	+	Colorectal(110;0.1)		84			Tyrosine-protein phosphatase.		B4E1E6|Q53P42	Silent	SNP	ENST00000175756.5	37	c.252C>T	CCDS2161.1																																																																																				0.557	PTPN18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254523.2			22	35	0	0	0	1	0	22	35					T	131116855	C	T	131116855	2	4	435	1	0	0	0	0	0	0	0	1	12784	767	27	1		1	PTPN18	2	131116855	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	186823	131116855	112082518	1265	22190											
GPR148	344561	broad.mit.edu	37	chr2	131487316	131487316	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atgcccagctggaggagcaaGgagcttcatacatcctacca	12	7	10	12	0	1	0	1	0	0	0	2	3	2	3	3	3	6	3	3	3	3	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:131487316G>T	ENST00000309926.4	+	1	674	c.592G>T	c.(592-594)Gga>Tga	p.G198*		NM_207364.2	NP_997247.2	Q8TDV2	GP148_HUMAN	G protein-coupled receptor 148	198						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(15)|skin(3)|upper_aerodigestive_tract(1)	27	Colorectal(110;0.1)					GGAGGAGCAAGGAGCTTCATA	0.577																																						ENST00000309926.4																			0				NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(15)|skin(3)|upper_aerodigestive_tract(1)	27						c.(592-594)Gga>Tga		G protein-coupled receptor 148							104	100	102					2																	131487316		2203	4300	6503	SO:0001587	stop_gained	344561					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr2:131487316G>T	AY255532	CCDS2163.1	2q21.2	2012-08-21			ENSG00000173302	ENSG00000173302		"GPCR / Class A : Orphans"	23623	protein-coding gene	gene with protein product						12679517	Standard	NM_207364		Approved	PGR6	uc002trv.2	Q8TDV2	OTTHUMG00000131655	ENST00000309926.4:c.592G>T	2.37:g.131487316G>T	ENSP00000308908:p.Gly198*						p.G198*	NM_207364.2	NP_997247.2	Q8TDV2	GP148_HUMAN			1	674	+	Colorectal(110;0.1)		198					Q2M369|Q86SP7|Q86U87	Nonsense_Mutation	SNP	ENST00000309926.4	37	c.592G>T	CCDS2163.1	.	.	.	.	.	.	.	.	.	.	.	11.25	1.583364	0.28268	.	.	ENSG00000173302	ENST00000309926	.	.	.	2.87	1.96	0.26148	.	1.958860	0.03947	U	0.287886	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.10377	T	0.69	0.0026	5.5362	0.17013	0.2895:0.0:0.7105:0.0	.	.	.	.	X	198	.	ENSP00000308908:G198X	G	+	1	0	GPR148	131203786	0.000000	0.05858	0.002000	0.10522	0.003000	0.03518	-0.152000	0.10159	0.500000	0.27991	0.462000	0.41574	GGA		0.577	GPR148-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254552.3	XM_293092		15	25	1	0	3.27435e-08	1	3.44876e-08	15	25					T	131487316	G	T	131487316	4	4	435	1	0	0	0	0	0	1	0	0	6653	1001	35	5	594	5	GPR148	2	131487316	Nonsense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	370461	131487316	111712057	1266	22191											
FAM123C	205147	broad.mit.edu	37	chr2	131520426	131520426	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tcgcagatgagagctcggtgCcatctctggagctgaacgag	9	8	14	10	3	1	3	0	2	1	2	4	6	1	4	1	2	4	3	1	2	1	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:131520426C>T	ENST00000423981.1	+	2	891	c.781C>T	c.(781-783)Cca>Tca	p.P261S	AMER3_ENST00000321420.4_Missense_Mutation_p.P261S	NM_001105193.1|NM_001105194.1|NM_001105195.1|NM_152698.2	NP_001098663.1|NP_001098664.1|NP_001098665.1|NP_689911.2	Q8N944	AMER3_HUMAN	APC membrane recruitment protein 3	261					Wnt signaling pathway (GO:0016055)	plasma membrane (GO:0005886)	lipid binding (GO:0008289)										GAGCTCGGTGCCATCTCTGGA	0.647																																						ENST00000423981.1																			0											c.(781-783)Cca>Tca		APC membrane recruitment protein 3							48	54	52					2																	131520426		2203	4300	6503	SO:0001583	missense	205147							g.chr2:131520426C>T	AK095696	CCDS2164.1	2q21.1	2012-12-03	2012-12-03	2012-12-03	ENSG00000178171	ENSG00000178171		"-"	26771	protein-coding gene	gene with protein product			"family with sequence similarity 123C"	FAM123C		20843316	Standard	NM_001105195		Approved	FLJ38377	uc002trw.2	Q8N944	OTTHUMG00000131637	ENST00000423981.1:c.781C>T	2.37:g.131520426C>T	ENSP00000392700:p.Pro261Ser					AMER3_ENST00000321420.4_Missense_Mutation_p.P261S	p.P261S	NM_001105193.1|NM_001105194.1|NM_001105195.1|NM_152698.2	NP_001098663.1|NP_001098664.1|NP_001098665.1|NP_689911.2					2	891	+								B7ZLH6	Missense_Mutation	SNP	ENST00000423981.1	37	c.781C>T	CCDS2164.1	.	.	.	.	.	.	.	.	.	.	C	13.46	2.242884	0.39598	.	.	ENSG00000178171	ENST00000321420;ENST00000423981	T;T	0.17854	2.25;2.25	5.21	4.31	0.51392	.	0.294340	0.32952	N	0.005448	T	0.27027	0.0662	L	0.57536	1.79	0.37894	D	0.930803	P	0.52316	0.952	P	0.53593	0.73	T	0.02358	-1.1171	10	0.45353	T	0.12	.	10.3293	0.43812	0.0:0.9037:0.0:0.0963	.	261	Q8N944	F123C_HUMAN	S	261	ENSP00000314914:P261S;ENSP00000392700:P261S	ENSP00000314914:P261S	P	+	1	0	FAM123C	131236896	1.000000	0.71417	0.969000	0.41365	0.076000	0.17211	2.813000	0.48002	2.597000	0.87782	0.561000	0.74099	CCA		0.647	AMER3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254531.3	NM_152698		10	40	0	0	0	1	0	10	40					T	131520426	C	T	131520426	3	4	435	1	0	0	0	0	1	0	0	0	5424	739	26	3	783	3	FAM123C	2	131520426	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	33110	131520426	111678947	1267	22192											
FAM123C	205147	broad.mit.edu	37	chr2	131522167	131522167	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cagcctcctggcccgtgaggGcctcctctgtggccagccag	4	7	13	17	1	1	1	0	1	1	0	3	1	3	1	7	3	2	0	7	3	0	0	rs369785856		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:131522167G>A	ENST00000423981.1	+	2	2632	c.2522G>A	c.(2521-2523)gGc>gAc	p.G841D	AMER3_ENST00000321420.4_Missense_Mutation_p.G841D	NM_001105193.1|NM_001105194.1|NM_001105195.1|NM_152698.2	NP_001098663.1|NP_001098664.1|NP_001098665.1|NP_689911.2	Q8N944	AMER3_HUMAN	APC membrane recruitment protein 3	841					Wnt signaling pathway (GO:0016055)	plasma membrane (GO:0005886)	lipid binding (GO:0008289)										GCCCGTGAGGGCCTCCTCTGT	0.632																																						ENST00000423981.1																			0											c.(2521-2523)gGc>gAc		APC membrane recruitment protein 3		G	ASP/GLY,ASP/GLY,ASP/GLY,ASP/GLY	0,4016		0,0,2008	7	8	8		2522,2522,2522,2522	0.6	0	2		8	1,8227		0,1,4113	no	missense,missense,missense,missense	FAM123C	NM_001105193.1,NM_001105194.1,NM_001105195.1,NM_152698.2	94,94,94,94	0,1,6121	AA,AG,GG		0.0122,0.0,0.0082	benign,benign,benign,benign	841/862,841/862,841/862,841/862	131522167	1,12243	2008	4114	6122	SO:0001583	missense	205147							g.chr2:131522167G>A	AK095696	CCDS2164.1	2q21.1	2012-12-03	2012-12-03	2012-12-03	ENSG00000178171	ENSG00000178171		"-"	26771	protein-coding gene	gene with protein product			"family with sequence similarity 123C"	FAM123C		20843316	Standard	NM_001105195		Approved	FLJ38377	uc002trw.2	Q8N944	OTTHUMG00000131637	ENST00000423981.1:c.2522G>A	2.37:g.131522167G>A	ENSP00000392700:p.Gly841Asp					AMER3_ENST00000321420.4_Missense_Mutation_p.G841D	p.G841D	NM_001105193.1|NM_001105194.1|NM_001105195.1|NM_152698.2	NP_001098663.1|NP_001098664.1|NP_001098665.1|NP_689911.2					2	2632	+								B7ZLH6	Missense_Mutation	SNP	ENST00000423981.1	37	c.2522G>A	CCDS2164.1	.	.	.	.	.	.	.	.	.	.	G	10.47	1.359853	0.24598	0.0	1.22E-4	ENSG00000178171	ENST00000321420;ENST00000423981	T;T	0.60424	0.19;0.19	3.9	0.56	0.17279	.	0.948772	0.08584	N	0.924048	T	0.38799	0.1054	L	0.29908	0.895	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.22173	-1.0224	10	0.25106	T	0.35	.	3.0576	0.06189	0.2935:0.232:0.4745:0.0	.	841	Q8N944	F123C_HUMAN	D	841	ENSP00000314914:G841D;ENSP00000392700:G841D	ENSP00000314914:G841D	G	+	2	0	FAM123C	131238637	0.000000	0.05858	0.000000	0.03702	0.195000	0.23768	0.065000	0.14466	0.327000	0.23409	0.561000	0.74099	GGC		0.632	AMER3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254531.3	NM_152698		5	9	0	0	0	1	0	5	9					A	131522167	G	A	131522167	3	1	435	1	0	0	0	0	1	0	0	0	5424	1203	42	3	2524	3	FAM123C	2	131522167	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	1741	131522167	111677206	1268	22193											
ARHGEF4	50649	broad.mit.edu	37	chr2	131799001	131799001	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gcaagtaccctctgcagctgGccgagctgctcaaatacacg	10	7	10	14	2	2	0	1	0	1	0	2	1	2	0	2	1	6	6	2	1	4	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:131799001G>A	ENST00000326016.5	+	9	1822	c.1303G>A	c.(1303-1305)Gcc>Acc	p.A435T	ARHGEF4_ENST00000428230.2_Intron|ARHGEF4_ENST00000409303.1_Missense_Mutation_p.A375T|ARHGEF4_ENST00000525839.1_Missense_Mutation_p.A435T|ARHGEF4_ENST00000355771.3_Missense_Mutation_p.A364T|ARHGEF4_ENST00000392953.3_Missense_Mutation_p.A435T	NM_015320.2	NP_056135.2	Q9NR80	ARHG4_HUMAN	Rho guanine nucleotide exchange factor (GEF) 4	435	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				apoptotic signaling pathway (GO:0097190)|filopodium assembly (GO:0046847)|lamellipodium assembly (GO:0030032)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Rac GTPase activity (GO:0032855)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell projection (GO:0042995)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|protein domain specific binding (GO:0019904)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)			NS(1)|breast(4)|cervix(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(4)	29		Prostate(154;0.055)		BRCA - Breast invasive adenocarcinoma(221;0.097)		TCTGCAGCTGGCCGAGCTGCT	0.612																																						ENST00000392953.3																			0				NS(1)|breast(4)|cervix(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(4)	29						c.(1303-1305)Gcc>Acc		Rho guanine nucleotide exchange factor (GEF) 4							38	35	36					2																	131799001		2203	4300	6503	SO:0001583	missense	50649				apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|lamellipodium assembly|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|ruffle membrane	protein domain specific binding|Rac guanyl-nucleotide exchange factor activity	g.chr2:131799001G>A	AL137289	CCDS2165.1, CCDS42754.1	2q22	2013-01-10			ENSG00000136002	ENSG00000136002		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	684	protein-coding gene	gene with protein product	"APC-stimulated guanine nucleotide exchange factor"	605216				10873612	Standard	NM_015320		Approved	STM6, KIAA1112, ASEF	uc002tsa.1	Q9NR80	OTTHUMG00000131657	ENST00000326016.5:c.1303G>A	2.37:g.131799001G>A	ENSP00000316845:p.Ala435Thr					ARHGEF4_ENST00000409303.1_Missense_Mutation_p.A375T|ARHGEF4_ENST00000355771.3_Missense_Mutation_p.A364T|ARHGEF4_ENST00000525839.1_Missense_Mutation_p.A435T|ARHGEF4_ENST00000428230.2_Intron|ARHGEF4_ENST00000326016.5_Missense_Mutation_p.A435T	p.A435T	NM_032995.1	NP_127462.1	Q9NR80	ARHG4_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.097)	9	1822	+		Prostate(154;0.055)	435			DH.		Q9HDC6|Q9UPP0	Missense_Mutation	SNP	ENST00000326016.5	37	c.1303G>A	CCDS2165.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	36|36	5.839732|5.839732	0.97009|0.97009	.|.	.|.	ENSG00000136002|ENSG00000136002	ENST00000326016;ENST00000392953;ENST00000525839;ENST00000409303;ENST00000355771|ENST00000532720	T;T;T;T;T|.	0.67698|.	-0.28;-0.28;-0.28;1.6;-0.28|.	5.33|5.33	5.33|5.33	0.75918|0.75918	Guanine-nucleotide dissociation stimulator, CDC24, conserved site (1);Dbl homology (DH) domain (5);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.61073|0.61073	0.2318|0.2318	L|L	0.41710|0.41710	1.295|1.295	0.80722|0.80722	D|D	1|1	D;P;D|.	0.69078|.	0.997;0.953;0.994|.	D;P;D|.	0.68621|.	0.953;0.837;0.959|.	T|T	0.56715|0.56715	-0.7933|-0.7933	10|5	0.59425|.	D|.	0.04|.	.|.	16.5152|16.5152	0.84297|0.84297	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	375;435;435|.	E9PEM0;Q9NR80-4;Q9NR80|.	.;.;ARHG4_HUMAN|.	T|D	435;435;435;375;364|51	ENSP00000316845:A435T;ENSP00000376680:A435T;ENSP00000432267:A435T;ENSP00000387285:A375T;ENSP00000348017:A364T|.	ENSP00000316845:A435T|.	A|G	+|+	1|2	0|0	ARHGEF4|ARHGEF4	131515471|131515471	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.996000|0.996000	0.88848|0.88848	9.183000|9.183000	0.94887|0.94887	2.503000|2.503000	0.84419|0.84419	0.561000|0.561000	0.74099|0.74099	GCC|GGC		0.612	ARHGEF4-001	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000254554.4			10	24	0	0	0	1	0	10	24					A	131799001	G	A	131799001	3	1	435	1	0	0	0	0	1	0	0	0	908	1203	42	3	1329	3	ARHGEF4	2	131799001	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	276834	131799001	111400372	1269	22194											
POTEE	445582	broad.mit.edu	37	chr2	131976050	131976050	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtctcaggagcaagatgggCaagtggtgctgccgttgctt	7	10	16	8	1	1	1	1	0	1	1	2	2	1	2	1	4	4	5	1	4	2	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:131976050C>T	ENST00000356920.5	+	1	169	c.75C>T	c.(73-75)ggC>ggT	p.G25G	PLEKHB2_ENST00000404460.1_Intron|POTEE_ENST00000358087.5_Silent_p.G25G|PLEKHB2_ENST00000303908.3_Intron	NM_001083538.1	NP_001077007.1	Q6S8J3	POTEE_HUMAN	POTE ankyrin domain family, member E	25					retina homeostasis (GO:0001895)|substantia nigra development (GO:0021762)	blood microparticle (GO:0072562)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)											GCAAGATGGGCAAGTGGTGCT	0.552																																						ENST00000356920.5																			0											c.(73-75)ggC>ggT		POTE ankyrin domain family, member E							83	102	96					2																	131976050		2193	4298	6491	SO:0001819	synonymous_variant	445582						ATP binding	g.chr2:131976050C>T	AY462868	CCDS46414.1	2q21.1	2014-04-10	2008-11-26	2008-11-26	ENSG00000188219	ENSG00000188219		"POTE ankyrin domain containing", "Ankyrin repeat domain containing"	33895	protein-coding gene	gene with protein product	"cancer/testis antigen family 104, member 2"	608914	"ANKRD26-like family C, member 1A"	A26C1A			Standard	NM_001083538		Approved	POTE2, POTE-2, A26C1, POTE2gamma, CT104.2	uc002tsn.2	Q6S8J3	OTTHUMG00000186974	ENST00000356920.5:c.75C>T	2.37:g.131976050C>T						PLEKHB2_ENST00000404460.1_Intron|PLEKHB2_ENST00000303908.3_Intron|POTEE_ENST00000358087.5_Silent_p.G25G	p.G25G	NM_001083538.1	NP_001077007.1	Q6S8J3	POTEE_HUMAN			1	169	+			25					Q6S8J4|Q6S8J5|Q6S8J8	Silent	SNP	ENST00000356920.5	37	c.75C>T	CCDS46414.1																																																																																				0.552	POTEE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001083538		54	81	0	0	0	1	0	54	81					T	131976050	C	T	131976050	2	4	435	1	0	0	0	0	0	0	0	1	12264	697	25	3		3	POTEE	2	131976050	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	177049	131976050	111223323	1270	22195											
GPR39	2863	broad.mit.edu	37	chr2	133174883	133174883	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tcctcatcggcatgcccatgGagttctacagcatcatctgg	8	11	9	13	1	4	0	2	0	2	0	6	1	5	1	2	3	3	3	2	3	1	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:133174883G>A	ENST00000329321.3	+	1	737	c.268G>A	c.(268-270)Gag>Aag	p.E90K		NM_001508.2	NP_001499.1	O43194	GPR39_HUMAN	G protein-coupled receptor 39	90					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|metal ion binding (GO:0046872)			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						CATGCCCATGGAGTTCTACAG	0.547																																						ENST00000329321.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						c.(268-270)Gag>Aag		G protein-coupled receptor 39							237	214	222					2																	133174883		2203	4300	6503	SO:0001583	missense	2863					integral to plasma membrane	G-protein coupled receptor activity|metal ion binding	g.chr2:133174883G>A	AF034633	CCDS2170.1	2q21-q22	2012-08-21			ENSG00000183840	ENSG00000183840		"GPCR / Class A : Orphans"	4496	protein-coding gene	gene with protein product		602886				9441746	Standard	NM_001508		Approved		uc002ttl.3	O43194	OTTHUMG00000131679	ENST00000329321.3:c.268G>A	2.37:g.133174883G>A	ENSP00000327417:p.Glu90Lys						p.E90K	NM_001508.2	NP_001499.1	O43194	GPR39_HUMAN			1	737	+			90					B2RC12|B6V9G4|Q08AS2|Q53R01	Missense_Mutation	SNP	ENST00000329321.3	37	c.268G>A	CCDS2170.1	.	.	.	.	.	.	.	.	.	.	G	33	5.250099	0.95305	.	.	ENSG00000183840	ENST00000329321	T	0.37058	1.22	5.34	5.34	0.76211	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.62171	0.2406	M	0.75447	2.3	0.80722	D	1	D	0.89917	1.0	D	0.72982	0.979	T	0.62515	-0.6838	10	0.54805	T	0.06	.	19.304	0.94153	0.0:0.0:1.0:0.0	.	90	O43194	GPR39_HUMAN	K	90	ENSP00000327417:E90K	ENSP00000327417:E90K	E	+	1	0	GPR39	132891353	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.792000	0.85828	2.803000	0.96430	0.549000	0.68633	GAG		0.547	GPR39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254582.1			31	39	0	0	0	1	0	31	39					A	133174883	G	A	133174883	3	1	435	1	0	0	0	0	1	0	0	0	6693	1175	41	3	270	3	GPR39	2	133174883	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	1198833	133174883	110024490	1271	22196											
GPR39	2863	broad.mit.edu	37	chr2	133402941	133402941	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caaccacgagaagcgcctgcGcgtacatgcgcactccacca	11	4	9	17	5	0	1	0	0	0	1	1	2	1	1	4	0	5	2	4	0	3	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:133402941G>A	ENST00000329321.3	+	2	1593	c.1124G>A	c.(1123-1125)cGc>cAc	p.R375H	LYPD1_ENST00000397463.2_3'UTR|GPR39_ENST00000470071.1_3'UTR	NM_001508.2	NP_001499.1	O43194	GPR39_HUMAN	G protein-coupled receptor 39	375					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|metal ion binding (GO:0046872)			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						AAGCGCCTGCGCGTACATGCG	0.647																																						ENST00000329321.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						c.(1123-1125)cGc>cAc		G protein-coupled receptor 39							49	49	49					2																	133402941		2203	4299	6502	SO:0001583	missense	2863					integral to plasma membrane	G-protein coupled receptor activity|metal ion binding	g.chr2:133402941G>A	AF034633	CCDS2170.1	2q21-q22	2012-08-21			ENSG00000183840	ENSG00000183840		"GPCR / Class A : Orphans"	4496	protein-coding gene	gene with protein product		602886				9441746	Standard	NM_001508		Approved		uc002ttl.3	O43194	OTTHUMG00000131679	ENST00000329321.3:c.1124G>A	2.37:g.133402941G>A	ENSP00000327417:p.Arg375His					GPR39_ENST00000470071.1_3'UTR|LYPD1_ENST00000397463.2_3'UTR	p.R375H	NM_001508.2	NP_001499.1	O43194	GPR39_HUMAN			2	1593	+			375					B2RC12|B6V9G4|Q08AS2|Q53R01	Missense_Mutation	SNP	ENST00000329321.3	37	c.1124G>A	CCDS2170.1	.	.	.	.	.	.	.	.	.	.	G	18.43	3.622204	0.66787	.	.	ENSG00000183840	ENST00000329321	T	0.38401	1.14	5.15	5.15	0.70609	.	10.601200	0.00610	N	0.000401	T	0.58666	0.2138	M	0.66939	2.045	0.42892	D	0.994204	D	0.71674	0.998	P	0.57101	0.813	T	0.43877	-0.9364	10	0.72032	D	0.01	.	12.2268	0.54465	0.0774:0.0:0.9226:0.0	.	375	O43194	GPR39_HUMAN	H	375	ENSP00000327417:R375H	ENSP00000327417:R375H	R	+	2	0	GPR39	133119411	0.985000	0.35326	0.805000	0.32314	0.456000	0.32438	2.544000	0.45761	2.692000	0.91855	0.650000	0.86243	CGC		0.647	GPR39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254582.1			15	35	0	0	0	1	0	15	35					A	133402941	G	A	133402941	3	1	435	1	0	0	0	0	1	0	0	0	6693	1087	38	1	1130	1	GPR39	2	133402941	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	228058	133402941	109796432	1272	22197											
GPR39	2863	broad.mit.edu	37	chr2	133403069	133403069	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcacttttcagagcgaggccGagccccagtctaagtcccag	9	7	11	14	2	2	1	1	0	1	1	3	3	3	1	4	1	2	1	4	1	1	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:133403069G>A	ENST00000329321.3	+	2	1721	c.1252G>A	c.(1252-1254)Gag>Aag	p.E418K	LYPD1_ENST00000397463.2_3'UTR|GPR39_ENST00000470071.1_3'UTR	NM_001508.2	NP_001499.1	O43194	GPR39_HUMAN	G protein-coupled receptor 39	418					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|metal ion binding (GO:0046872)			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						GAGCGAGGCCGAGCCCCAGTC	0.562																																						ENST00000329321.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						c.(1252-1254)Gag>Aag		G protein-coupled receptor 39							55	61	59					2																	133403069		2203	4300	6503	SO:0001583	missense	2863					integral to plasma membrane	G-protein coupled receptor activity|metal ion binding	g.chr2:133403069G>A	AF034633	CCDS2170.1	2q21-q22	2012-08-21			ENSG00000183840	ENSG00000183840		"GPCR / Class A : Orphans"	4496	protein-coding gene	gene with protein product		602886				9441746	Standard	NM_001508		Approved		uc002ttl.3	O43194	OTTHUMG00000131679	ENST00000329321.3:c.1252G>A	2.37:g.133403069G>A	ENSP00000327417:p.Glu418Lys					GPR39_ENST00000470071.1_3'UTR|LYPD1_ENST00000397463.2_3'UTR	p.E418K	NM_001508.2	NP_001499.1	O43194	GPR39_HUMAN			2	1721	+			418					B2RC12|B6V9G4|Q08AS2|Q53R01	Missense_Mutation	SNP	ENST00000329321.3	37	c.1252G>A	CCDS2170.1	.	.	.	.	.	.	.	.	.	.	g	2.106	-0.404955	0.04832	.	.	ENSG00000183840	ENST00000329321	T	0.62105	0.05	5.15	-1.84	0.07809	.	3.258460	0.00817	N	0.001549	T	0.23806	0.0576	N	0.00419	-1.52	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.49303	-0.8954	10	0.02654	T	1	.	6.6963	0.23201	0.5881:0.1194:0.2925:0.0	.	418	O43194	GPR39_HUMAN	K	418	ENSP00000327417:E418K	ENSP00000327417:E418K	E	+	1	0	GPR39	133119539	0.003000	0.15002	0.000000	0.03702	0.000000	0.00434	0.160000	0.16462	-0.450000	0.07107	-1.094000	0.02160	GAG		0.562	GPR39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254582.1			20	24	0	0	0	1	0	20	24					A	133403069	G	A	133403069	3	1	435	1	0	0	0	0	1	0	0	0	6693	1059	37	2	1258	2	GPR39	2	133403069	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	128	133403069	109796304	1273	22198											
NCKAP5	344148	broad.mit.edu	37	chr2	133489410	133489410	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	acaatggcgctatctgcaggGcgctggccgtctgtggagga	7	8	16	10	3	2	0	0	0	2	0	2	2	2	2	1	5	1	3	1	5	2	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:133489410G>T	ENST00000409261.1	-	17	5716	c.5343C>A	c.(5341-5343)cgC>cgA	p.R1781R	NCKAP5_ENST00000405974.3_Silent_p.R462R|NCKAP5_ENST00000409213.1_Silent_p.R462R|NCKAP5_ENST00000317721.6_Silent_p.R1781R|NCKAP5_ENST00000473859.1_5'Flank	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	1781										NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						TATCTGCAGGGCGCTGGCCGT	0.587																																						ENST00000409261.1																			0				NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						c.(5341-5343)cgC>cgA		NCK-associated protein 5							87	91	90					2																	133489410		2053	4192	6245	SO:0001819	synonymous_variant	344148						protein binding	g.chr2:133489410G>T	AB005217	CCDS46417.1, CCDS46418.1	2q21.2	2010-02-17			ENSG00000176771	ENSG00000176771			29847	protein-coding gene	gene with protein product	"Nck associated protein 5", "peripheral clock protein"	608789				9344857	Standard	NM_207363		Approved	NAP5, ERIH1, ERIH2	uc002ttp.3	O14513	OTTHUMG00000153573	ENST00000409261.1:c.5343C>A	2.37:g.133489410G>T						NCKAP5_ENST00000409213.1_Silent_p.R462R|NCKAP5_ENST00000405974.3_Silent_p.R462R|NCKAP5_ENST00000317721.6_Silent_p.R1781R	p.R1781R	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN			17	5716	-			1781					B8ZZL0|Q29SS9|Q29ST0|Q2NL90|Q6ZVE2|Q8NAS3	Silent	SNP	ENST00000409261.1	37	c.5343C>A	CCDS46418.1																																																																																				0.587	NCKAP5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331663.1	NM_207481		9	64	1	0	2.74318e-10	1	2.93027e-10	9	64					T	133489410	G	T	133489410	2	4	435	1	0	0	0	0	0	0	0	1	10223	1190	42	5		5	NCKAP5	2	133489410	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	86341	133489410	109709963	1274	22199											
CCNT2	905	broad.mit.edu	37	chr2	135712081	135712081	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacatctcagcaccctcgtgAaactggacaagaagccagtg	13	6	10	12	1	1	2	1	1	1	1	3	4	1	3	2	1	3	1	2	1	3	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:135712081A>G	ENST00000264157.5	+	9	2086	c.2056A>G	c.(2056-2058)Aaa>Gaa	p.K686E	CCNT2_ENST00000295238.6_Missense_Mutation_p.E652G|CCNT2_ENST00000537343.1_Missense_Mutation_p.E477G	NM_001241.3|NM_058241.2	NP_001232.1|NP_490595.1	O60583	CCNT2_HUMAN	cyclin T2	686					cell cycle (GO:0007049)|cell division (GO:0051301)|gene expression (GO:0010467)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)				endometrium(2)|kidney(3)|large_intestine(10)|lung(6)|ovary(2)|prostate(1)|skin(1)	25				BRCA - Breast invasive adenocarcinoma(221;0.107)		CACCCTCGTGAAACTGGACAA	0.507																																						ENST00000264157.5																			0				endometrium(2)|kidney(3)|large_intestine(10)|lung(6)|ovary(2)|prostate(1)|skin(1)	25						c.(2056-2058)Aaa>Gaa		cyclin T2							105	90	95					2																	135712081		2203	4300	6503	SO:0001583	missense	905				cell cycle|cell division|interspecies interaction between organisms|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction	nucleoplasm	protein kinase binding	g.chr2:135712081A>G	AF048731	CCDS2174.1, CCDS2175.1	2q21.3	2010-11-15			ENSG00000082258	ENSG00000082258			1600	protein-coding gene	gene with protein product		603862				9499409, 10465067	Standard	NM_001241		Approved		uc002tuc.2	O60583	OTTHUMG00000131712	ENST00000264157.5:c.2056A>G	2.37:g.135712081A>G	ENSP00000264157:p.Lys686Glu					CCNT2_ENST00000537343.1_Missense_Mutation_p.E477G|CCNT2_ENST00000295238.6_Missense_Mutation_p.E652G	p.K686E	NM_001241.3|NM_058241.2	NP_001232.1|NP_490595.1	O60583	CCNT2_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.107)	9	2086	+			686					A8KA48|D3DP73|D3DP74|O60582|Q29R66|Q53SR4|Q5I1Y0	Missense_Mutation	SNP	ENST00000264157.5	37	c.2056A>G	CCDS2174.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	17.59|17.59	3.427086|3.427086	0.62733|0.62733	.|.	.|.	ENSG00000082258|ENSG00000082258	ENST00000537343;ENST00000295238;ENST00000452521|ENST00000264157	T|T	0.24908|0.41065	1.83|1.01	5.29|5.29	5.29|5.29	0.74685|0.74685	.|.	.|0.320592	.|0.27600	.|N	.|0.018652	T|T	0.42040|0.42040	0.1185|0.1185	L|L	0.59436|0.59436	1.845|1.845	0.38537|0.38537	D|D	0.949124|0.949124	D;D|P	0.76494|0.38504	0.999;0.999|0.634	D;D|B	0.72075|0.36378	0.976;0.964|0.223	T|T	0.51694|0.51694	-0.8673|-0.8673	9|10	0.56958|0.62326	D|D	0.05|0.03	.|.	15.2346|15.2346	0.73419|0.73419	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	477;652|686	B4DH21;O60583-2|O60583	.;.|CCNT2_HUMAN	G|E	477;652;104|686	ENSP00000295238:E652G|ENSP00000264157:K686E	ENSP00000295238:E652G|ENSP00000264157:K686E	E|K	+|+	2|1	0|0	CCNT2|CCNT2	135428551|135428551	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	7.576000|7.576000	0.82467|0.82467	2.005000|2.005000	0.58758|0.58758	0.533000|0.533000	0.62120|0.62120	GAA|AAA		0.507	CCNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254629.1	NM_058241		4	42	0	0	0	1	0	4	42					G	135712081	A	G	135712081	3	3	435	1	0	0	0	0	1	0	0	0	2935	247	9	4	2090	4	CCNT2	2	135712081	Missense_Mutation	SNP	A	TCGA-XK-AAIW-01A-11D-A41K-08	2222671	135712081	107487292	1275	22200											
YSK4	80122	broad.mit.edu	37	chr2	135744355	135744355	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atcgacatttattggtgataCgtctgcctgatggagccgaa	10	12	11	8	3	1	2	0	2	1	0	2	5	1	3	2	2	3	0	2	2	3	4	rs368406495		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:135744355C>T	ENST00000375845.3	-	7	2117	c.2087G>A	c.(2086-2088)cGt>cAt	p.R696H	MAP3K19_ENST00000392917.3_Intron|MAP3K19_ENST00000392915.1_Missense_Mutation_p.R713H|MAP3K19_ENST00000315513.3_5'UTR|MAP3K19_ENST00000375844.3_Intron|MAP3K19_ENST00000358371.4_Missense_Mutation_p.R583H|MAP3K19_ENST00000392918.3_Intron	NM_001018044.2|NM_025052.3	NP_001018054.1|NP_079328.3	Q56UN5	M3K19_HUMAN	mitogen-activated protein kinase kinase kinase 19	696							ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)										ATTGGTGATACGTCTGCCTGA	0.408																																						ENST00000375845.3																			0											c.(2086-2088)cGt>cAt		mitogen-activated protein kinase kinase kinase 19		C	,HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	184	172	176		,2087	3.9	0	2		176	0,8600		0,0,4300	no	intron,missense	YSK4	NM_001018046.1,NM_025052.3	,29	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,benign	,696/1329	135744355	1,13005	2203	4300	6503	SO:0001583	missense	80122							g.chr2:135744355C>T	AK026727	CCDS2176.2, CCDS33293.1, CCDS63021.1, CCDS63020.1, CCDS63022.1	2q21.3	2012-10-16	2012-10-16	2012-10-16	ENSG00000176601	ENSG00000176601		"Mitogen-activated protein kinase cascade / Kinase kinase kinases"	26249	protein-coding gene	gene with protein product			"Yeast Sps1/Ste20-related kinase 4 (S. cerevisiae)", "yeast Sps1/Ste20-related kinase 4 (S. cerevisiae)", "YSK4 Sps1/Ste20-related kinase homolog (S. cerevisiae)"	YSK4		12477932	Standard	NM_001282883		Approved	FLJ23074	uc002tue.1	Q56UN5	OTTHUMG00000074083	ENST00000375845.3:c.2087G>A	2.37:g.135744355C>T	ENSP00000365005:p.Arg696His					MAP3K19_ENST00000392915.1_Missense_Mutation_p.R713H|MAP3K19_ENST00000392917.3_Intron|MAP3K19_ENST00000375844.3_Intron|MAP3K19_ENST00000392918.3_Intron|MAP3K19_ENST00000358371.4_Missense_Mutation_p.R583H|MAP3K19_ENST00000315513.3_5'UTR	p.R696H	NM_025052.3	NP_079328.3					7	2117	-								B2RP57|B7ZMH9|E2QRE3|Q56UN1|Q56UN2|Q56UN3|Q56UN4|Q8N4E9|Q9H5T2	Missense_Mutation	SNP	ENST00000375845.3	37	c.2087G>A	CCDS2176.2	.	.	.	.	.	.	.	.	.	.	C	8.942	0.966170	0.18659	2.27E-4	0.0	ENSG00000176601	ENST00000375845;ENST00000358371;ENST00000392915;ENST00000437365	T;T;T;T	0.73469	-0.58;-0.58;1.81;-0.75	5.67	3.87	0.44632	.	0.630733	0.15002	N	0.286058	T	0.52191	0.1719	N	0.08118	0	0.54753	D	0.999982	P;P;P	0.39181	0.663;0.663;0.533	B;B;B	0.32289	0.091;0.143;0.042	T	0.54070	-0.8348	10	0.66056	D	0.02	.	10.9869	0.47526	0.0:0.789:0.1406:0.0704	.	583;713;696	Q56UN5-3;A8MWG7;Q56UN5	.;.;YSK4_HUMAN	H	696;583;713;86	ENSP00000365005:R696H;ENSP00000351140:R583H;ENSP00000376647:R713H;ENSP00000392827:R86H	ENSP00000351140:R583H	R	-	2	0	YSK4	135460825	0.002000	0.14202	0.015000	0.15790	0.057000	0.15508	1.066000	0.30604	0.728000	0.32382	0.561000	0.74099	CGT		0.408	MAP3K19-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000158244.1	NM_025052		62	117	0	0	0	1	0	62	117					T	135744355	C	T	135744355	3	4	435	1	0	0	0	0	1	0	0	0	17492	536	19	1	1915	1	YSK4	2	135744355	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	32274	135744355	107455018	1276	22201											
RAB3GAP1	22930	broad.mit.edu	37	chr2	135893244	135893244	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gctggaaaagcaggagaccaGttggtgccagataatctaaa	15	7	12	7	0	1	2	0	0	1	2	1	4	1	3	2	3	2	3	2	3	5	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:135893244G>A	ENST00000264158.8	+	17	1708	c.1665G>A	c.(1663-1665)caG>caA	p.Q555Q	SNORA40_ENST00000385573.1_RNA|RAB3GAP1_ENST00000487003.1_3'UTR|ZRANB3_ENST00000412849.1_5'Flank|RAB3GAP1_ENST00000539493.1_Silent_p.Q511Q|RAB3GAP1_ENST00000442034.1_Silent_p.Q555Q	NM_012233.2	NP_036365.1	Q15042	RB3GP_HUMAN	RAB3 GTPase activating protein subunit 1 (catalytic)	555					brain development (GO:0007420)|camera-type eye development (GO:0043010)|establishment of protein localization to endoplasmic reticulum membrane (GO:0097051)|face morphogenesis (GO:0060325)|hypothalamus development (GO:0021854)|lipid particle organization (GO:0034389)|positive regulation of endoplasmic reticulum tubular network organization (GO:1903373)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of Rab GTPase activity (GO:0032851)|regulation of calcium ion-dependent exocytosis of neurotransmitter (GO:1903233)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of GTPase activity (GO:0043087)|regulation of short-term neuronal synaptic plasticity (GO:0048172)	cytoplasm (GO:0005737)|endoplasmic reticulum tubular network (GO:0071782)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)	Rab GTPase activator activity (GO:0005097)|Rab GTPase binding (GO:0017137)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(10)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	32				BRCA - Breast invasive adenocarcinoma(221;0.117)		CAGGAGACCAGTTGGTGCCAG	0.418																																						ENST00000264158.8																			0				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(10)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	32						c.(1663-1665)caG>caA		RAB3 GTPase activating protein subunit 1 (catalytic)							68	67	67					2																	135893244		2203	4300	6503	SO:0001819	synonymous_variant	22930					centrosome|nucleus|soluble fraction	Rab GTPase activator activity|Rab GTPase binding	g.chr2:135893244G>A	D31886	CCDS33294.1, CCDS54402.1	2q21.3	2013-07-09			ENSG00000115839	ENSG00000115839			17063	protein-coding gene	gene with protein product		602536				9030515, 15696165	Standard	NM_012233		Approved	RAB3GAP, KIAA0066, RAB3GAP130, WARBM1	uc010fnf.3	Q15042	OTTHUMG00000154889	ENST00000264158.8:c.1665G>A	2.37:g.135893244G>A						RAB3GAP1_ENST00000487003.1_3'UTR|RAB3GAP1_ENST00000442034.1_Silent_p.Q555Q|RAB3GAP1_ENST00000539493.1_Silent_p.Q511Q	p.Q555Q	NM_012233.2	NP_036365.1	Q15042	RB3GP_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.117)	17	1708	+			555					A6H8Z3|C9J837|Q659F5|Q8TBB4	Silent	SNP	ENST00000264158.8	37	c.1665G>A	CCDS33294.1																																																																																				0.418	RAB3GAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337514.2	NM_012233		15	26	0	0	0	1	0	15	26					A	135893244	G	A	135893244	2	1	435	1	0	0	0	0	0	0	0	1	12935	1020	36	3		3	RAB3GAP1	2	135893244	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	148889	135893244	107306129	1277	22202											
RAB3GAP1	22930	broad.mit.edu	37	chr2	135908034	135908034	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggggctcaccttcgagcacgCatgcagagtgcctgtctgct	6	9	13	13	2	2	1	1	0	1	1	3	2	2	1	2	2	4	5	2	2	0	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:135908034C>T	ENST00000264158.8	+	18	2062	c.2019C>T	c.(2017-2019)cgC>cgT	p.R673R	RAB3GAP1_ENST00000487003.1_3'UTR|ZRANB3_ENST00000412849.1_Intron|RAB3GAP1_ENST00000539493.1_Silent_p.R629R|RAB3GAP1_ENST00000442034.1_Silent_p.R673R	NM_012233.2	NP_036365.1	Q15042	RB3GP_HUMAN	RAB3 GTPase activating protein subunit 1 (catalytic)	673					brain development (GO:0007420)|camera-type eye development (GO:0043010)|establishment of protein localization to endoplasmic reticulum membrane (GO:0097051)|face morphogenesis (GO:0060325)|hypothalamus development (GO:0021854)|lipid particle organization (GO:0034389)|positive regulation of endoplasmic reticulum tubular network organization (GO:1903373)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of Rab GTPase activity (GO:0032851)|regulation of calcium ion-dependent exocytosis of neurotransmitter (GO:1903233)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of GTPase activity (GO:0043087)|regulation of short-term neuronal synaptic plasticity (GO:0048172)	cytoplasm (GO:0005737)|endoplasmic reticulum tubular network (GO:0071782)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)	Rab GTPase activator activity (GO:0005097)|Rab GTPase binding (GO:0017137)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(10)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	32				BRCA - Breast invasive adenocarcinoma(221;0.117)		TTCGAGCACGCATGCAGAGTG	0.488																																						ENST00000264158.8																			0				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(10)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	32						c.(2017-2019)cgC>cgT		RAB3 GTPase activating protein subunit 1 (catalytic)							83	79	80					2																	135908034		2203	4300	6503	SO:0001819	synonymous_variant	22930					centrosome|nucleus|soluble fraction	Rab GTPase activator activity|Rab GTPase binding	g.chr2:135908034C>T	D31886	CCDS33294.1, CCDS54402.1	2q21.3	2013-07-09			ENSG00000115839	ENSG00000115839			17063	protein-coding gene	gene with protein product		602536				9030515, 15696165	Standard	NM_012233		Approved	RAB3GAP, KIAA0066, RAB3GAP130, WARBM1	uc010fnf.3	Q15042	OTTHUMG00000154889	ENST00000264158.8:c.2019C>T	2.37:g.135908034C>T						RAB3GAP1_ENST00000487003.1_3'UTR|RAB3GAP1_ENST00000442034.1_Silent_p.R673R|RAB3GAP1_ENST00000539493.1_Silent_p.R629R|ZRANB3_ENST00000412849.1_Intron	p.R673R	NM_012233.2	NP_036365.1	Q15042	RB3GP_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.117)	18	2062	+			673					A6H8Z3|C9J837|Q659F5|Q8TBB4	Silent	SNP	ENST00000264158.8	37	c.2019C>T	CCDS33294.1																																																																																				0.488	RAB3GAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337514.2	NM_012233		25	34	0	0	0	1	0	25	34					T	135908034	C	T	135908034	2	4	435	1	0	0	0	0	0	0	0	1	12935	697	25	3		3	RAB3GAP1	2	135908034	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	14790	135908034	107291339	1278	22203											
ZRANB3	84083	broad.mit.edu	37	chr2	135988257	135988257	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gatttgcttggactgggatgGtgtctcttccgacggactgc	5	13	14	9	2	1	0	0	0	1	0	3	5	2	3	1	4	2	1	1	4	0	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:135988257G>A	ENST00000264159.6	-	13	1896	c.1780C>T	c.(1780-1782)Cca>Tca	p.P594S	ZRANB3_ENST00000401392.1_Missense_Mutation_p.P594S|ZRANB3_ENST00000412849.1_5'UTR|ZRANB3_ENST00000536680.1_Missense_Mutation_p.P594S	NM_032143.2	NP_115519.2	Q5FWF4	ZRAB3_HUMAN	zinc finger, RAN-binding domain containing 3	594					cellular response to DNA damage stimulus (GO:0006974)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|DNA rewinding (GO:0036292)|DNA strand renaturation (GO:0000733)|negative regulation of DNA recombination (GO:0045910)|replication fork processing (GO:0031297)|replication fork protection (GO:0048478)|response to UV (GO:0009411)	nuclear replication fork (GO:0043596)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|endodeoxyribonuclease activity (GO:0004520)|helicase activity (GO:0004386)|K63-linked polyubiquitin binding (GO:0070530)|zinc ion binding (GO:0008270)			NS(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|upper_aerodigestive_tract(1)	20				BRCA - Breast invasive adenocarcinoma(221;0.135)		GACTGGGATGGTGTCTCTTCC	0.502																																						ENST00000401392.1																			0				NS(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|upper_aerodigestive_tract(1)	20						c.(1780-1782)Cca>Tca		zinc finger, RAN-binding domain containing 3							169	166	167					2																	135988257		1986	4160	6146	SO:0001583	missense	84083					intracellular	ATP binding|DNA binding|endonuclease activity|helicase activity|zinc ion binding	g.chr2:135988257G>A	AL136824	CCDS46419.1, CCDS67963.1, CCDS74580.1	2q21.3	2013-05-13			ENSG00000121988	ENSG00000121988		"Zinc fingers, RAN-binding domain containing"	25249	protein-coding gene	gene with protein product						11230166	Standard	XM_005263809		Approved	DKFZP434B1727	uc002tum.3	Q5FWF4	OTTHUMG00000150475	ENST00000264159.6:c.1780C>T	2.37:g.135988257G>A	ENSP00000264159:p.Pro594Ser					ZRANB3_ENST00000264159.6_Missense_Mutation_p.P594S|ZRANB3_ENST00000412849.1_5'UTR|ZRANB3_ENST00000536680.1_Missense_Mutation_p.P594S	p.P594S			Q5FWF4	ZRAB3_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.135)	13	1992	-			594					B3KYA1|B4E375|B5MDI3|D3DP76|E9PBP0|Q53SM1|Q6P2C4|Q8N1P4|Q9H0E8	Missense_Mutation	SNP	ENST00000264159.6	37	c.1780C>T	CCDS46419.1	.	.	.	.	.	.	.	.	.	.	G	9.385	1.074086	0.20227	.	.	ENSG00000121988	ENST00000538542;ENST00000283060;ENST00000401392;ENST00000264159;ENST00000536680	D;D;D	0.90620	-2.7;-2.7;-2.69	5.51	1.65	0.23941	.	0.777115	0.12314	N	0.479927	T	0.80644	0.4662	L	0.28740	0.885	0.09310	N	1	B;B	0.14012	0.009;0.007	B;B	0.14023	0.007;0.01	T	0.63695	-0.6579	10	0.24483	T	0.36	-5.9965	1.6462	0.02762	0.2331:0.1198:0.4735:0.1736	.	594;594	Q5FWF4;Q5FWF4-3	ZRAB3_HUMAN;.	S	59;59;594;594;594	ENSP00000383979:P594S;ENSP00000264159:P594S;ENSP00000441320:P594S	ENSP00000264159:P594S	P	-	1	0	ZRANB3	135704727	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.422000	0.21296	0.278000	0.22164	-0.251000	0.11542	CCA		0.502	ZRANB3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318254.1	NM_032143		25	40	0	0	0	1	0	25	40					A	135988257	G	A	135988257	3	1	435	1	0	0	0	0	1	0	0	0	18221	1261	44	3	1495	3	ZRANB3	2	135988257	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	80223	135988257	107211116	1279	22204											
R3HDM1	23518	broad.mit.edu	37	chr2	136418857	136418857	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tagatgccagcctgttattgCgctccaggccactatcactc	8	11	8	14	1	1	1	1	0	0	1	3	1	2	1	4	1	3	2	4	1	3	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:136418857C>T	ENST00000264160.4	+	18	2311	c.1941C>T	c.(1939-1941)tgC>tgT	p.C647C	R3HDM1_ENST00000329971.3_Silent_p.C518C|R3HDM1_ENST00000409606.1_Silent_p.C648C|R3HDM1_ENST00000410054.1_Silent_p.C592C|R3HDM1_ENST00000409478.1_Silent_p.C519C	NM_001282798.1|NM_015361.2	NP_001269727.1|NP_056176.2	Q15032	R3HD1_HUMAN	R3H domain containing 1	647							poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(6)|kidney(5)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	38				BRCA - Breast invasive adenocarcinoma(221;0.127)		CCTGTTATTGCGCTCCAGGCC	0.433																																						ENST00000264160.4																			0				breast(2)|endometrium(6)|kidney(5)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	38						c.(1939-1941)tgC>tgT		R3H domain containing 1							143	125	131					2																	136418857		2203	4300	6503	SO:0001819	synonymous_variant	23518						nucleic acid binding	g.chr2:136418857C>T	D21852	CCDS2177.1, CCDS63024.1, CCDS63025.1, CCDS63026.1	2q21.3	2012-09-20	2005-09-02	2005-09-02	ENSG00000048991	ENSG00000048991			9757	protein-coding gene	gene with protein product			"R3H domain (binds single-stranded nucleic acids) containing"	R3HDM		7584026	Standard	NM_001282798		Approved	KIAA0029	uc002tuo.3	Q15032	OTTHUMG00000131740	ENST00000264160.4:c.1941C>T	2.37:g.136418857C>T						R3HDM1_ENST00000410054.1_Silent_p.C592C|R3HDM1_ENST00000409606.1_Silent_p.C648C|R3HDM1_ENST00000409478.1_Silent_p.C519C|R3HDM1_ENST00000329971.3_Silent_p.C518C	p.C647C	NM_015361.2	NP_056176.2	Q15032	R3HD1_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.127)	18	2311	+			647					A8K1V0|B3KXQ9|E9PBB4|E9PG42|G5E9G8|Q8IW32	Silent	SNP	ENST00000264160.4	37	c.1941C>T	CCDS2177.1	.	.	.	.	.	.	.	.	.	.	C	5.036	0.192336	0.09599	.	.	ENSG00000048991	ENST00000429703	.	.	.	5.65	3.09	0.35607	.	.	.	.	.	T	0.59390	0.2190	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.52704	-0.8540	4	.	.	.	-8.0748	9.9748	0.41777	0.0:0.1315:0.0:0.8685	.	.	.	.	C	371	.	.	R	+	1	0	R3HDM1	136135327	1.000000	0.71417	0.924000	0.36721	0.619000	0.37552	2.497000	0.45354	0.403000	0.25479	-1.028000	0.02416	CGC		0.433	R3HDM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254659.1	NM_015361		25	65	0	0	0	1	0	25	65					T	136418857	C	T	136418857	2	4	435	1	0	0	0	0	0	0	0	1	12887	776	27	1		1	R3HDM1	2	136418857	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	430600	136418857	106780516	1280	22205											
LCT	3938	broad.mit.edu	37	chr2	136547323	136547323	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cccactcaaaattgtccatcGcactccaaactgtgtatcct	11	11	4	15	1	1	0	1	0	0	0	5	0	4	0	4	0	1	2	4	0	4	2	rs183725992		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:136547323G>A	ENST00000264162.2	-	16	5391	c.5381C>T	c.(5380-5382)gCg>gTg	p.A1794V		NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	1794	4 X approximate repeats.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	glycosylceramidase activity (GO:0017042)|lactase activity (GO:0000016)			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)	Vitamin C(DB00126)	ATTGTCCATCGCACTCCAAAC	0.483													G|||	1	0.000199681	0	0.0014	5008	,	,		21694	0		0	False		,,,				2504	0					ENST00000264162.2																			0				breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124						c.(5380-5382)gCg>gTg		lactase							143	136	138					2																	136547323		2203	4300	6503	SO:0001583	missense	3938				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity	g.chr2:136547323G>A	X07994	CCDS2178.1	2q21	2014-09-17			ENSG00000115850	ENSG00000115850	3.2.1.108, 3.2.1.62		6530	protein-coding gene	gene with protein product		603202					Standard	NM_002299		Approved		uc002tuu.1	P09848	OTTHUMG00000131738	ENST00000264162.2:c.5381C>T	2.37:g.136547323G>A	ENSP00000264162:p.Ala1794Val						p.A1794V	NM_002299.2	NP_002290.2	P09848	LPH_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.169)	16	5391	-			1794			4 X approximate repeats.		Q4ZG58	Missense_Mutation	SNP	ENST00000264162.2	37	c.5381C>T	CCDS2178.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	16.72	3.200915	0.58234	.	.	ENSG00000115850	ENST00000264162	T	0.29397	1.57	5.74	4.49	0.54785	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.758642	0.12190	N	0.491292	T	0.17492	0.0420	N	0.05012	-0.13	0.30009	N	0.81537	B	0.09022	0.002	B	0.12837	0.008	T	0.13818	-1.0495	10	0.52906	T	0.07	-0.198	10.5282	0.44960	0.9161:0.0:0.0839:0.0	.	1794	P09848	LPH_HUMAN	V	1794	ENSP00000264162:A1794V	ENSP00000264162:A1794V	A	-	2	0	LCT	136263793	1.000000	0.71417	0.709000	0.30452	0.987000	0.75469	5.364000	0.66110	0.885000	0.36088	-0.253000	0.11424	GCG		0.483	LCT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254657.1	NM_002299		13	22	0	0	0	1	0	13	22					A	136547323	G	A	136547323	3	1	435	1	0	0	0	0	1	0	0	0	8693	1087	38	1	410	1	LCT	2	136547323	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	128466	136547323	106652050	1281	22206											
LCT	3938	broad.mit.edu	37	chr2	136570440	136570440	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagtctgagttcagcacaatGcccacgtgcccctgctgctg	7	9	10	15	1	2	1	1	1	1	0	2	1	2	1	3	0	5	4	3	0	1	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:136570440G>A	ENST00000264162.2	-	7	1804	c.1794C>T	c.(1792-1794)ggC>ggT	p.G598G	Y_RNA_ENST00000363794.1_RNA	NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	598	4 X approximate repeats.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	glycosylceramidase activity (GO:0017042)|lactase activity (GO:0000016)			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)	Vitamin C(DB00126)	TCAGCACAATGCCCACGTGCC	0.567																																						ENST00000264162.2																			0				breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124						c.(1792-1794)ggC>ggT		lactase							64	55	58					2																	136570440		2203	4300	6503	SO:0001819	synonymous_variant	3938				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity	g.chr2:136570440G>A	X07994	CCDS2178.1	2q21	2014-09-17			ENSG00000115850	ENSG00000115850	3.2.1.108, 3.2.1.62		6530	protein-coding gene	gene with protein product		603202					Standard	NM_002299		Approved		uc002tuu.1	P09848	OTTHUMG00000131738	ENST00000264162.2:c.1794C>T	2.37:g.136570440G>A							p.G598G	NM_002299.2	NP_002290.2	P09848	LPH_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.169)	7	1804	-			598			4 X approximate repeats.		Q4ZG58	Silent	SNP	ENST00000264162.2	37	c.1794C>T	CCDS2178.1																																																																																				0.567	LCT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254657.1	NM_002299		7	6	0	0	0	1	0	7	6					A	136570440	G	A	136570440	2	1	435	1	0	0	0	0	0	0	0	1	8693	1306	46	3		3	LCT	2	136570440	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	23117	136570440	106628933	1282	22207											
MCM6	4175	broad.mit.edu	37	chr2	136624249	136624249	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttaaaattacttctaaactgCgggggatactccctcgagga	12	11	9	9	2	1	0	0	0	1	0	3	3	2	2	1	3	4	0	1	3	6	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:136624249C>T	ENST00000264156.2	-	5	725	c.665G>A	c.(664-666)cGc>cAc	p.R222H	MCM6_ENST00000492091.1_5'Flank	NM_005915.5	NP_005906.2	Q14566	MCM6_HUMAN	minichromosome maintenance complex component 6	222					DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA unwinding involved in DNA replication (GO:0006268)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)	MCM complex (GO:0042555)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA helicase activity (GO:0003678)|identical protein binding (GO:0042802)|single-stranded DNA binding (GO:0003697)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(15)|prostate(2)|skin(1)	29				BRCA - Breast invasive adenocarcinoma(221;0.166)		TTCTAAACTGCGGGGGATACT	0.463																																					Ovarian(196;141 2104 8848 24991 25939)	ENST00000264156.2																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(15)|prostate(2)|skin(1)	29						c.(664-666)cGc>cAc		minichromosome maintenance complex component 6	Atorvastatin(DB01076)						91	89	90					2																	136624249		2203	4300	6503	SO:0001583	missense	4175				cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	MCM complex	ATP binding|identical protein binding	g.chr2:136624249C>T		CCDS2179.1	2q14-q21	2008-02-05	2007-04-04		ENSG00000076003	ENSG00000076003			6949	protein-coding gene	gene with protein product	"MIS5 homolog (S.pombe)"	601806	"minichromosome maintenance deficient (mis5, S. pombe) 6", "MCM6 minichromosome maintenance deficient 6 (MIS5 homolog, S. pombe) (S. cerevisiae)", "minichromosome maintenance deficient 6 homolog (S. cerevisiae)"				Standard	NM_005915		Approved	Mis5	uc002tuw.4	Q14566	OTTHUMG00000131739	ENST00000264156.2:c.665G>A	2.37:g.136624249C>T	ENSP00000264156:p.Arg222His						p.R222H	NM_005915.5	NP_005906.2	Q14566	MCM6_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.166)	5	725	-			222					B2R6H2|Q13504|Q99859	Missense_Mutation	SNP	ENST00000264156.2	37	c.665G>A	CCDS2179.1	.	.	.	.	.	.	.	.	.	.	C	35	5.591665	0.96590	.	.	ENSG00000076003	ENST00000264156	T	0.07688	3.17	5.89	5.89	0.94794	Nucleic acid-binding, OB-fold-like (1);Nucleic acid-binding, OB-fold (1);	0.000000	0.85682	D	0.000000	T	0.35422	0.0931	M	0.82433	2.59	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.02371	-1.1169	10	0.51188	T	0.08	-10.2118	20.2562	0.98421	0.0:1.0:0.0:0.0	.	222	Q14566	MCM6_HUMAN	H	222	ENSP00000264156:R222H	ENSP00000264156:R222H	R	-	2	0	MCM6	136340719	1.000000	0.71417	0.983000	0.44433	0.965000	0.64279	7.435000	0.80391	2.797000	0.96272	0.563000	0.77884	CGC		0.463	MCM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254658.1	NM_005915		4	124	0	0	0	1	0	4	124					T	136624249	C	T	136624249	3	4	435	1	0	0	0	0	1	0	0	0	9391	768	27	1	1852	1	MCM6	2	136624249	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	53809	136624249	106575124	1283	22208											
THSD7B	80731	broad.mit.edu	37	chr2	137852464	137852464	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ctttgccttcaagattccttCccattgactgttcagtcctg	6	16	6	13	0	2	2	2	1	0	1	5	2	5	2	4	0	1	1	4	0	1	6			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:137852464C>T	ENST00000409968.1	+	4	1150	c.972C>T	c.(970-972)ttC>ttT	p.F324F	THSD7B_ENST00000272643.3_Silent_p.F324F|THSD7B_ENST00000413152.2_Silent_p.F293F|THSD7B_ENST00000543459.1_Silent_p.F183F			Q9C0I4	THS7B_HUMAN	thrombospondin, type I, domain containing 7B	324						integral component of membrane (GO:0016021)				NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		AAGATTCCTTCCCATTGACTG	0.458																																						ENST00000409968.1																			0				NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134						c.(970-972)ttC>ttT		thrombospondin, type I, domain containing 7B							126	131	130					2																	137852464		1876	4100	5976	SO:0001819	synonymous_variant	80731							g.chr2:137852464C>T			2q22.1	2006-11-24			ENSG00000144229	ENSG00000144229			29348	protein-coding gene	gene with protein product						11214970	Standard	NM_001080427		Approved	KIAA1679	uc002tva.1	Q9C0I4	OTTHUMG00000153590	ENST00000409968.1:c.972C>T	2.37:g.137852464C>T						THSD7B_ENST00000272643.3_Silent_p.F324F|THSD7B_ENST00000543459.1_Silent_p.F183F|THSD7B_ENST00000413152.2_Silent_p.F293F	p.F324F						BRCA - Breast invasive adenocarcinoma(221;0.19)	4	1150	+									Silent	SNP	ENST00000409968.1	37	c.972C>T																																																																																					0.458	THSD7B-001	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000331769.2	XM_046570.9		27	47	0	0	0	1	0	27	47					T	137852464	C	T	137852464	2	4	435	1	0	0	0	0	0	0	0	1	15877	854	30	3		3	THSD7B	2	137852464	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	1228215	137852464	105346909	1284	22209											
THSD7B	80731	broad.mit.edu	37	chr2	137917826	137917826	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttatgtgtgggacccgccccGttgccctctcagctctgcaa	5	11	10	15	2	2	0	1	0	2	0	3	1	2	1	4	1	3	3	4	1	2	2	rs376181717		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:137917826G>A	ENST00000409968.1	+	6	1591	c.1413G>A	c.(1411-1413)ccG>ccA	p.P471P	THSD7B_ENST00000485379.1_3'UTR|THSD7B_ENST00000272643.3_Silent_p.P471P|THSD7B_ENST00000413152.2_Silent_p.P440P|THSD7B_ENST00000543459.1_Intron			Q9C0I4	THS7B_HUMAN	thrombospondin, type I, domain containing 7B	471	TSP type-1 5. {ECO:0000255|PROSITE- ProRule:PRU00210}.					integral component of membrane (GO:0016021)				NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		GACCCGCCCCGTTGCCCTCTC	0.512																																						ENST00000409968.1																			0				NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134						c.(1411-1413)ccG>ccA		thrombospondin, type I, domain containing 7B		G		1,4039		0,1,2019	166	165	165		1320	-1	0	2		165	0,8336		0,0,4168	no	coding-synonymous	THSD7B	NM_001080427.1		0,1,6187	AA,AG,GG		0.0,0.0248,0.0081		440/1578	137917826	1,12375	2020	4168	6188	SO:0001819	synonymous_variant	80731							g.chr2:137917826G>A			2q22.1	2006-11-24			ENSG00000144229	ENSG00000144229			29348	protein-coding gene	gene with protein product						11214970	Standard	NM_001080427		Approved	KIAA1679	uc002tva.1	Q9C0I4	OTTHUMG00000153590	ENST00000409968.1:c.1413G>A	2.37:g.137917826G>A						THSD7B_ENST00000272643.3_Silent_p.P471P|THSD7B_ENST00000543459.1_Intron|THSD7B_ENST00000485379.1_3'UTR|THSD7B_ENST00000413152.2_Silent_p.P440P	p.P471P						BRCA - Breast invasive adenocarcinoma(221;0.19)	6	1591	+									Silent	SNP	ENST00000409968.1	37	c.1413G>A																																																																																					0.512	THSD7B-001	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000331769.2	XM_046570.9		29	29	0	0	0	1	0	29	29					A	137917826	G	A	137917826	2	1	435	1	0	0	0	0	0	0	0	1	15877	1132	40	1		1	THSD7B	2	137917826	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	65362	137917826	105281547	1285	22210											
THSD7B	80731	broad.mit.edu	37	chr2	138330060	138330060	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	attcccccagaaacccagtcCtgttctcttatgtgtcccaa	9	12	5	15	0	1	1	0	0	1	1	5	1	4	1	5	0	1	1	5	0	3	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:138330060C>T	ENST00000409968.1	+	17	3535	c.3357C>T	c.(3355-3357)tcC>tcT	p.S1119S	THSD7B_ENST00000272643.3_Silent_p.S1122S|THSD7B_ENST00000413152.2_Silent_p.S1091S|THSD7B_ENST00000543459.1_Intron			Q9C0I4	THS7B_HUMAN	thrombospondin, type I, domain containing 7B	1121	TSP type-1 13. {ECO:0000255|PROSITE- ProRule:PRU00210}.					integral component of membrane (GO:0016021)				NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		AAACCCAGTCCTGTTCTCTTA	0.463																																						ENST00000409968.1																			0				NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134						c.(3355-3357)tcC>tcT		thrombospondin, type I, domain containing 7B							93	97	95					2																	138330060		1969	4145	6114	SO:0001819	synonymous_variant	80731							g.chr2:138330060C>T			2q22.1	2006-11-24			ENSG00000144229	ENSG00000144229			29348	protein-coding gene	gene with protein product						11214970	Standard	NM_001080427		Approved	KIAA1679	uc002tva.1	Q9C0I4	OTTHUMG00000153590	ENST00000409968.1:c.3357C>T	2.37:g.138330060C>T						THSD7B_ENST00000272643.3_Silent_p.S1122S|THSD7B_ENST00000543459.1_Intron|THSD7B_ENST00000413152.2_Silent_p.S1091S	p.S1119S						BRCA - Breast invasive adenocarcinoma(221;0.19)	17	3535	+									Silent	SNP	ENST00000409968.1	37	c.3357C>T																																																																																					0.463	THSD7B-001	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000331769.2	XM_046570.9		12	18	0	0	0	1	0	12	18					T	138330060	C	T	138330060	2	4	435	1	0	0	0	0	0	0	0	1	15877	668	24	3		3	THSD7B	2	138330060	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	412234	138330060	104869313	1286	22211											
THSD7B	80731	broad.mit.edu	37	chr2	138400111	138400111	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	caacccaaggagaaggacggCcatgccccacagagcttacc	13	3	10	15	1	0	2	0	0	0	2	0	4	0	3	5	3	4	1	5	3	4	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:138400111C>T	ENST00000409968.1	+	21	4031	c.3853C>T	c.(3853-3855)Cca>Tca	p.P1285S	THSD7B_ENST00000272643.3_Missense_Mutation_p.P1288S|THSD7B_ENST00000413152.2_Missense_Mutation_p.P1257S|THSD7B_ENST00000543459.1_Intron			Q9C0I4	THS7B_HUMAN	thrombospondin, type I, domain containing 7B	1287	TSP type-1 16. {ECO:0000255|PROSITE- ProRule:PRU00210}.					integral component of membrane (GO:0016021)				NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		AGAAGGACGGCCATGCCCCAC	0.512																																						ENST00000409968.1																			0				NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134						c.(3853-3855)Cca>Tca		thrombospondin, type I, domain containing 7B							117	118	118					2																	138400111		1903	4108	6011	SO:0001583	missense	80731							g.chr2:138400111C>T			2q22.1	2006-11-24			ENSG00000144229	ENSG00000144229			29348	protein-coding gene	gene with protein product						11214970	Standard	NM_001080427		Approved	KIAA1679	uc002tva.1	Q9C0I4	OTTHUMG00000153590	ENST00000409968.1:c.3853C>T	2.37:g.138400111C>T	ENSP00000387145:p.Pro1285Ser					THSD7B_ENST00000272643.3_Missense_Mutation_p.P1288S|THSD7B_ENST00000543459.1_Intron|THSD7B_ENST00000413152.2_Missense_Mutation_p.P1257S	p.P1285S						BRCA - Breast invasive adenocarcinoma(221;0.19)	21	4031	+									Missense_Mutation	SNP	ENST00000409968.1	37	c.3853C>T		.	.	.	.	.	.	.	.	.	.	C	20.4	3.981467	0.74474	.	.	ENSG00000144229	ENST00000409968;ENST00000272643;ENST00000413152	T;T;T	0.53640	0.61;0.61;0.61	5.33	5.33	0.75918	.	0.157915	0.64402	D	0.000019	T	0.52869	0.1761	L	0.57130	1.785	0.80722	D	1	B	0.31790	0.34	B	0.40825	0.341	T	0.44907	-0.9297	10	0.26408	T	0.33	.	17.9482	0.89045	0.0:1.0:0.0:0.0	.	1257	C9JKN6	.	S	1285;1288;1257	ENSP00000387145:P1285S;ENSP00000272643:P1288S;ENSP00000413841:P1257S	ENSP00000272643:P1288S	P	+	1	0	THSD7B	138116581	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.721000	0.61951	2.768000	0.95171	0.655000	0.94253	CCA		0.512	THSD7B-001	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000331769.2	XM_046570.9		20	27	0	0	0	1	0	20	27					T	138400111	C	T	138400111	3	4	435	1	0	0	0	0	1	0	0	0	15877	739	26	3	3843	3	THSD7B	2	138400111	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	70051	138400111	104799262	1287	22212											
HNMT	3176	broad.mit.edu	37	chr2	138759638	138759638	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttctctgtattttagagctTgtagccaagacatcgaacct	10	14	7	10	1	1	2	0	0	1	2	3	3	1	2	2	0	3	3	2	0	5	6			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:138759638T>C	ENST00000280097.3	+	4	485	c.303T>C	c.(301-303)ctT>ctC	p.L101L	HNMT_ENST00000410115.1_Silent_p.L101L|HNMT_ENST00000485653.1_3'UTR	NM_006895.2	NP_008826.1	P50135	HNMT_HUMAN	histamine N-methyltransferase	101					brain development (GO:0007420)|hyperosmotic response (GO:0006972)|respiratory gaseous exchange (GO:0007585)|response to amine (GO:0014075)|response to cocaine (GO:0042220)|response to glucocorticoid (GO:0051384)|response to interleukin-1 (GO:0070555)|response to tumor cell (GO:0002347)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|neuron projection (GO:0043005)|nucleus (GO:0005634)	histamine N-methyltransferase activity (GO:0046539)			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13				BRCA - Breast invasive adenocarcinoma(221;0.125)	Amodiaquine(DB00613)|Chlorhexidine(DB00878)|Histamine Phosphate(DB00667)|Quinacrine(DB01103)	TTTTAGAGCTTGTAGCCAAGA	0.353																																						ENST00000280097.3																			0				NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						c.(301-303)ctT>ctC		histamine N-methyltransferase	Amodiaquine(DB00613)|Histamine Phosphate(DB00667)|Quinacrine(DB01103)						59	56	57					2																	138759638		2203	4300	6503	SO:0001819	synonymous_variant	3176				respiratory gaseous exchange	cytoplasm	histamine N-methyltransferase activity	g.chr2:138759638T>C		CCDS2181.1, CCDS33296.1, CCDS33297.1	2q22.1	2008-02-05			ENSG00000150540	ENSG00000150540	2.1.1.8		5028	protein-coding gene	gene with protein product		605238					Standard	NM_001024074		Approved		uc002tvf.3	P50135	OTTHUMG00000131751	ENST00000280097.3:c.303T>C	2.37:g.138759638T>C						HNMT_ENST00000485653.1_3'UTR|HNMT_ENST00000410115.1_Silent_p.L101L	p.L101L	NM_006895.2	NP_008826.1	P50135	HNMT_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.125)	4	485	+			101					B2R9J3|Q546Z6|Q7Z7I2|Q8IU56|Q8WW98|Q9BRW6	Silent	SNP	ENST00000280097.3	37	c.303T>C	CCDS2181.1																																																																																				0.353	HNMT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254673.1			23	28	0	0	0	1	0	23	28					C	138759638	T	C	138759638	2	2	435	1	0	0	0	0	0	0	0	1	7255	1799	63	4		4	HNMT	2	138759638	Silent	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	359527	138759638	104439735	1288	22213											
NXPH2	11249	broad.mit.edu	37	chr2	139429115	139429115	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cggagactgtttaacaaacaGgcgcaggggactgatgatcc	12	7	13	9	2	0	3	0	2	0	1	1	5	1	4	1	4	2	2	1	4	2	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:139429115G>T	ENST00000272641.3	-	2	278	c.172C>A	c.(172-174)Ctg>Atg	p.L58M		NM_007226.2	NP_009157.1	O95156	NXPH2_HUMAN	neurexophilin 2	58	II.				neuropeptide signaling pathway (GO:0007218)	extracellular region (GO:0005576)				endometrium(1)|large_intestine(3)|lung(6)|ovary(3)|prostate(3)|skin(3)|urinary_tract(3)	22				BRCA - Breast invasive adenocarcinoma(221;0.101)		TTAACAAACAGGCGCAGGGGA	0.572																																						ENST00000272641.3																			0				endometrium(1)|large_intestine(3)|lung(6)|ovary(3)|prostate(3)|skin(3)|urinary_tract(3)	22						c.(172-174)Ctg>Atg		neurexophilin 2							117	117	117					2																	139429115		1950	4147	6097	SO:0001583	missense	11249				neuropeptide signaling pathway	extracellular region		g.chr2:139429115G>T	AF043467	CCDS46421.1	2q22.1	2008-05-15			ENSG00000144227	ENSG00000144227			8076	protein-coding gene	gene with protein product		604635				9570794	Standard	NM_007226		Approved	NPH2	uc002tvi.3	O95156	OTTHUMG00000153636	ENST00000272641.3:c.172C>A	2.37:g.139429115G>T	ENSP00000272641:p.Leu58Met						p.L58M	NM_007226.2	NP_009157.1	O95156	NXPH2_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.101)	2	278	-			58			II.		B7WP24|Q494R1|Q75QC3	Missense_Mutation	SNP	ENST00000272641.3	37	c.172C>A	CCDS46421.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.969275	0.74246	.	.	ENSG00000144227	ENST00000272641	.	.	.	6.17	6.17	0.99709	.	0.000000	0.64402	D	0.000001	T	0.78097	0.4230	L	0.57536	1.79	0.51482	D	0.999925	D	0.76494	0.999	D	0.87578	0.998	T	0.73487	-0.3967	8	.	.	.	-11.5246	20.8794	0.99867	0.0:0.0:1.0:0.0	.	58	O95156	NXPH2_HUMAN	M	58	.	.	L	-	1	2	NXPH2	139145585	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.203000	0.65174	2.941000	0.99782	0.655000	0.94253	CTG		0.572	NXPH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331901.1			6	89	1	0	0.000157383	1	0.000161063	6	89					T	139429115	G	T	139429115	3	4	435	1	0	0	0	0	1	0	0	0	10791	991	35	5	626	5	NXPH2	2	139429115	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	669477	139429115	103770258	1289	22214											
LRP1B	53353	broad.mit.edu	37	chr2	141135848	141135848	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaatctttcaatgtacatgtCtgtggctctggggataaaaa	13	13	9	6	0	4	0	1	0	3	0	4	1	4	1	0	3	1	2	0	3	6	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:141135848C>A	ENST00000389484.3	-	68	11510	c.10539G>T	c.(10537-10539)caG>caT	p.Q3513H		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	3513					protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		ATGTACATGTCTGTGGCTCTG	0.383										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	ENST00000389484.3																			0				NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606						c.(10537-10539)caG>caT		low density lipoprotein receptor-related protein 1B							92	79	84					2																	141135848		2203	4300	6503	SO:0001583	missense	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141135848C>A	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"Low density lipoprotein receptors"	6693	protein-coding gene	gene with protein product	"LRP-deleted in tumors"	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.10539G>T	2.37:g.141135848C>A	ENSP00000374135:p.Gln3513His	TSP Lung(27;0.18)					p.Q3513H	NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)	68	11510	-		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)	3513					Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	c.10539G>T	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	C	11.86	1.765326	0.31228	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	D	0.91124	-2.79	5.6	-1.08	0.09936	.	0.176711	0.37857	N	0.001908	D	0.88269	0.6391	L	0.33753	1.03	0.25571	N	0.986898	D	0.54397	0.966	P	0.55161	0.77	T	0.82741	-0.0307	10	0.39692	T	0.17	.	12.0183	0.53329	0.0:0.4693:0.0:0.5307	.	3513	Q9NZR2	LRP1B_HUMAN	H	3513;3451	ENSP00000374135:Q3513H	ENSP00000374135:Q3513H	Q	-	3	2	LRP1B	140852318	0.975000	0.34042	0.995000	0.50966	0.960000	0.62799	0.130000	0.15850	-0.127000	0.11661	-0.194000	0.12790	CAG		0.383	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		21	30	1	0	2.37509e-13	1	2.57931e-13	21	30					A	141135848	C	A	141135848	3	1	435	1	0	0	0	0	1	0	0	0	8955	912	32	5	3356	5	LRP1B	2	141135848	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	1706733	141135848	102063525	1290	22215											
LRP1B	53353	broad.mit.edu	37	chr2	141459810	141459810	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	attccctccagtctcaaggtCgattctctctatcttgtctg	6	16	6	13	1	5	0	1	0	5	0	10	1	7	0	2	1	0	0	2	1	2	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:141459810C>T	ENST00000389484.3	-	39	7173	c.6202G>A	c.(6202-6204)Gac>Aac	p.D2068N		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	2068					protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		GTCTCAAGGTCGATTCTCTCT	0.408										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	ENST00000389484.3																			0				NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606						c.(6202-6204)Gac>Aac		low density lipoprotein receptor-related protein 1B							200	177	185					2																	141459810		2203	4300	6503	SO:0001583	missense	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141459810C>T	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"Low density lipoprotein receptors"	6693	protein-coding gene	gene with protein product	"LRP-deleted in tumors"	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.6202G>A	2.37:g.141459810C>T	ENSP00000374135:p.Asp2068Asn	TSP Lung(27;0.18)					p.D2068N	NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)	39	7173	-		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)	2068					Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	c.6202G>A	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	C	17.12	3.308963	0.60305	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	D	0.93426	-3.22	5.6	5.6	0.85130	Six-bladed beta-propeller, TolB-like (1);	0.199326	0.42420	U	0.000720	D	0.86606	0.5973	N	0.11000	0.08	0.41095	D	0.985624	B	0.20988	0.05	B	0.14578	0.011	T	0.81604	-0.0857	10	0.20046	T	0.44	.	19.627	0.95680	0.0:1.0:0.0:0.0	.	2068	Q9NZR2	LRP1B_HUMAN	N	2068;2006	ENSP00000374135:D2068N	ENSP00000374135:D2068N	D	-	1	0	LRP1B	141176280	1.000000	0.71417	0.996000	0.52242	0.985000	0.73830	5.565000	0.67365	2.641000	0.89580	0.557000	0.71058	GAC		0.408	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		33	51	0	0	0	1	0	33	51					T	141459810	C	T	141459810	3	4	435	1	0	0	0	0	1	0	0	0	8955	884	31	2	7809	2	LRP1B	2	141459810	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	323962	141459810	101739563	1291	22216											
LRP1B	53353	broad.mit.edu	37	chr2	141665541	141665541	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgaggtgtcattagcacaaGgatgcttgggtggtccacac	9	10	13	9	0	1	1	1	1	0	0	2	2	2	2	1	4	2	2	1	4	2	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:141665541G>T	ENST00000389484.3	-	22	4396	c.3425C>A	c.(3424-3426)cCt>cAt	p.P1142H		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	1142	LDL-receptor class A 10. {ECO:0000255|PROSITE-ProRule:PRU00124}.				protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		ATTAGCACAAGGATGCTTGGG	0.463										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	ENST00000389484.3																			0				NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606						c.(3424-3426)cCt>cAt		low density lipoprotein receptor-related protein 1B							191	164	173					2																	141665541		2203	4300	6503	SO:0001583	missense	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141665541G>T	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"Low density lipoprotein receptors"	6693	protein-coding gene	gene with protein product	"LRP-deleted in tumors"	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.3425C>A	2.37:g.141665541G>T	ENSP00000374135:p.Pro1142His	TSP Lung(27;0.18)					p.P1142H	NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)	22	4396	-		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)	1142			LDL-receptor class A 10.		Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	c.3425C>A	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.992571	0.74703	.	.	ENSG00000168702	ENST00000389484;ENST00000544579;ENST00000434794	D;D	0.99051	-5.37;-3.66	5.58	5.58	0.84498	.	0.144833	0.46758	D	0.000269	D	0.98826	0.9604	L	0.39514	1.22	0.58432	D	0.999998	D;D	0.89917	0.99;1.0	D;D	0.76071	0.957;0.987	D	0.99878	1.1107	10	0.44086	T	0.13	.	19.5654	0.95390	0.0:0.0:1.0:0.0	.	325;1142	Q96NT6;Q9NZR2	.;LRP1B_HUMAN	H	1142;1080;287	ENSP00000374135:P1142H;ENSP00000413239:P287H	ENSP00000374135:P1142H	P	-	2	0	LRP1B	141382011	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	7.894000	0.87336	2.641000	0.89580	0.585000	0.79938	CCT		0.463	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		29	34	1	0	2.4375e-19	1	2.69654e-19	29	34					T	141665541	G	T	141665541	3	4	435	1	0	0	0	0	1	0	0	0	8955	1000	35	5	10654	5	LRP1B	2	141665541	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	205731	141665541	101533832	1292	22217											
GTDC1	79712	broad.mit.edu	37	chr2	144765062	144765062	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gccatttcctttaaggccgaGcatcttctttaaatgggttg	8	15	9	9	1	2	0	0	0	2	0	3	1	3	0	3	2	1	2	3	2	3	7			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:144765062G>T	ENST00000392869.2	-	6	714	c.562C>A	c.(562-564)Ctc>Atc	p.L188I	GTDC1_ENST00000409298.1_Intron|GTDC1_ENST00000409214.1_Missense_Mutation_p.L188I|GTDC1_ENST00000463875.2_Missense_Mutation_p.L59I|GTDC1_ENST00000344850.4_Missense_Mutation_p.L188I|GTDC1_ENST00000241391.5_Missense_Mutation_p.L188I|GTDC1_ENST00000542155.1_Missense_Mutation_p.L188I|GTDC1_ENST00000392867.3_Missense_Mutation_p.L188I	NM_001284234.1	NP_001271163.1	Q4AE62	GTDC1_HUMAN	glycosyltransferase-like domain containing 1	188					biosynthetic process (GO:0009058)		transferase activity, transferring glycosyl groups (GO:0016757)			central_nervous_system(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(17)|ovary(1)	25				BRCA - Breast invasive adenocarcinoma(221;0.0914)		TTAAGGCCGAGCATCTTCTTT	0.373																																						ENST00000409214.1																			0				central_nervous_system(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(17)|ovary(1)	25						c.(562-564)Ctc>Atc		glycosyltransferase-like domain containing 1							63	64	64					2																	144765062		2203	4300	6503	SO:0001583	missense	79712				biosynthetic process		transferase activity, transferring glycosyl groups	g.chr2:144765062G>T	AY281366	CCDS2185.1, CCDS33300.1, CCDS63029.1, CCDS74582.1, CCDS74583.1	2q22.3	2013-02-22			ENSG00000121964	ENSG00000121964		"Glycosyltransferase group 1 domain containing"	20887	protein-coding gene	gene with protein product	"mannosyltransferase-like"	610165				15068588, 21821951	Standard	NM_024659		Approved	FLJ11753, Hmat-Xa	uc010fnn.3	Q4AE62	OTTHUMG00000131835	ENST00000392869.2:c.562C>A	2.37:g.144765062G>T	ENSP00000376608:p.Leu188Ile					GTDC1_ENST00000542155.1_Missense_Mutation_p.L188I|GTDC1_ENST00000392867.3_Missense_Mutation_p.L188I|GTDC1_ENST00000463875.2_Missense_Mutation_p.L59I|GTDC1_ENST00000241391.5_Missense_Mutation_p.L188I|GTDC1_ENST00000409298.1_Intron|GTDC1_ENST00000392869.1_Missense_Mutation_p.L188I|GTDC1_ENST00000344850.4_Missense_Mutation_p.L188I	p.L188I	NM_001006636.3	NP_001006637.1	Q4AE62	GTDC1_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0914)	7	840	-			188					A8K5P2|D3DP81|Q53SM7|Q53TC5|Q6P7E7|Q6PJB6|Q6WKW6|Q9HAE5	Missense_Mutation	SNP	ENST00000392869.2	37	c.562C>A	CCDS33300.1	.	.	.	.	.	.	.	.	.	.	G	16.85	3.236881	0.58886	.	.	ENSG00000121964	ENST00000392869;ENST00000409214;ENST00000392867;ENST00000542155;ENST00000241391;ENST00000344850;ENST00000463875	T;T;T;T;T;T;T	0.46063	0.9;0.9;0.88;0.9;0.88;0.9;0.89	5.42	2.62	0.31277	.	0.734608	0.12895	N	0.430223	T	0.32346	0.0826	L	0.52364	1.645	0.09310	N	1	B;B;B;B	0.23806	0.041;0.019;0.001;0.091	B;B;B;B	0.19946	0.018;0.019;0.002;0.027	T	0.21280	-1.0250	10	0.21540	T	0.41	-11.5133	6.1654	0.20388	0.2302:0.0:0.628:0.1418	.	188;188;188;188	G1UFN1;Q4AE62-2;Q4AE62;Q4AE62-3	.;.;GTDC1_HUMAN;.	I	188;188;188;188;188;188;59	ENSP00000376608:L188I;ENSP00000386581:L188I;ENSP00000376606:L188I;ENSP00000438323:L188I;ENSP00000241391:L188I;ENSP00000339750:L188I;ENSP00000437964:L59I	ENSP00000241391:L188I	L	-	1	0	GTDC1	144481532	1.000000	0.71417	0.827000	0.32855	0.984000	0.73092	1.670000	0.37502	0.775000	0.33450	0.655000	0.94253	CTC		0.373	GTDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254779.2	NM_024659		20	27	1	0	9.57634e-11	1	1.02616e-10	20	27					T	144765062	G	T	144765062	3	4	435	1	0	0	0	0	1	0	0	0	6851	971	34	5	838	5	GTDC1	2	144765062	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	3099521	144765062	98434311	1293	22218											
GTDC1	79712	broad.mit.edu	37	chr2	144903304	144903304	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gcactgaacttgcaaagaggGtcctaggaaacaagaaaatt	17	7	10	7	0	0	3	0	1	0	2	1	4	1	4	1	2	3	2	1	2	7	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:144903304G>A	ENST00000392869.2	-	4	334	c.182C>T	c.(181-183)aCc>aTc	p.T61I	GTDC1_ENST00000409298.1_Missense_Mutation_p.T61I|GTDC1_ENST00000409214.1_Missense_Mutation_p.T61I|GTDC1_ENST00000463875.2_5'UTR|GTDC1_ENST00000344850.4_Missense_Mutation_p.T61I|GTDC1_ENST00000241391.5_Missense_Mutation_p.T61I|GTDC1_ENST00000542155.1_Missense_Mutation_p.T61I|GTDC1_ENST00000392867.3_Missense_Mutation_p.T61I	NM_001284234.1	NP_001271163.1	Q4AE62	GTDC1_HUMAN	glycosyltransferase-like domain containing 1	61					biosynthetic process (GO:0009058)		transferase activity, transferring glycosyl groups (GO:0016757)			central_nervous_system(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(17)|ovary(1)	25				BRCA - Breast invasive adenocarcinoma(221;0.0914)		TGCAAAGAGGGTCCTAGGAAA	0.458																																						ENST00000409214.1																			0				central_nervous_system(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(17)|ovary(1)	25						c.(181-183)aCc>aTc		glycosyltransferase-like domain containing 1							89	86	87					2																	144903304		2203	4300	6503	SO:0001583	missense	79712				biosynthetic process		transferase activity, transferring glycosyl groups	g.chr2:144903304G>A	AY281366	CCDS2185.1, CCDS33300.1, CCDS63029.1, CCDS74582.1, CCDS74583.1	2q22.3	2013-02-22			ENSG00000121964	ENSG00000121964		"Glycosyltransferase group 1 domain containing"	20887	protein-coding gene	gene with protein product	"mannosyltransferase-like"	610165				15068588, 21821951	Standard	NM_024659		Approved	FLJ11753, Hmat-Xa	uc010fnn.3	Q4AE62	OTTHUMG00000131835	ENST00000392869.2:c.182C>T	2.37:g.144903304G>A	ENSP00000376608:p.Thr61Ile					GTDC1_ENST00000542155.1_Missense_Mutation_p.T61I|GTDC1_ENST00000392867.3_Missense_Mutation_p.T61I|GTDC1_ENST00000463875.2_5'UTR|GTDC1_ENST00000241391.5_Missense_Mutation_p.T61I|GTDC1_ENST00000409298.1_Missense_Mutation_p.T61I|GTDC1_ENST00000392869.1_Missense_Mutation_p.T61I|GTDC1_ENST00000344850.4_Missense_Mutation_p.T61I	p.T61I	NM_001006636.3	NP_001006637.1	Q4AE62	GTDC1_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0914)	5	460	-			61					A8K5P2|D3DP81|Q53SM7|Q53TC5|Q6P7E7|Q6PJB6|Q6WKW6|Q9HAE5	Missense_Mutation	SNP	ENST00000392869.2	37	c.182C>T	CCDS33300.1	.	.	.	.	.	.	.	.	.	.	G	9.448	1.089887	0.20390	.	.	ENSG00000121964	ENST00000392869;ENST00000409214;ENST00000392867;ENST00000409298;ENST00000542155;ENST00000241391;ENST00000344850;ENST00000437114;ENST00000417450	T;T;T;T;T;T;T;T;T	0.41758	0.99;0.99;0.99;0.99;0.99;0.99;0.99;0.99;0.99	5.73	1.73	0.24493	Glycosyltransferase family 1, N-terminal (1);	0.444031	0.26470	N	0.024197	T	0.17280	0.0415	N	0.03608	-0.345	0.29551	N	0.851371	B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0	B;B;B;B;B	0.08055	0.0;0.001;0.003;0.0;0.001	T	0.21008	-1.0258	10	0.15499	T	0.54	1.7024	9.963	0.41708	0.8027:0.0:0.1973:0.0	.	61;61;61;61;61	G1UFN1;Q4AE62-2;B8ZZ45;Q4AE62;Q4AE62-3	.;.;.;GTDC1_HUMAN;.	I	61	ENSP00000376608:T61I;ENSP00000386581:T61I;ENSP00000376606:T61I;ENSP00000386691:T61I;ENSP00000438323:T61I;ENSP00000241391:T61I;ENSP00000339750:T61I;ENSP00000403869:T61I;ENSP00000400661:T61I	ENSP00000241391:T61I	T	-	2	0	GTDC1	144619774	1.000000	0.71417	0.998000	0.56505	0.966000	0.64601	4.341000	0.59335	0.145000	0.18977	-0.455000	0.05494	ACC		0.458	GTDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254779.2	NM_024659		15	20	0	0	0	1	0	15	20					A	144903304	G	A	144903304	3	1	435	1	0	0	0	0	1	0	0	0	6851	1261	44	3	1226	3	GTDC1	2	144903304	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	138242	144903304	98296069	1294	22219											
ZEB2	9839	broad.mit.edu	37	chr2	145147501	145147501	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccacatttatcacactgataGggcttctcgcccgagtgaag	10	10	9	12	2	2	2	1	2	1	0	3	3	2	2	2	1	0	1	2	1	3	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:145147501G>T	ENST00000558170.2	-	10	4346	c.3162C>A	c.(3160-3162)ccC>ccA	p.P1054P	ZEB2_ENST00000539609.3_Silent_p.P1030P|ZEB2_ENST00000303660.4_Silent_p.P1054P|ZEB2_ENST00000409487.3_Silent_p.P1054P	NM_014795.3	NP_055610.1	O60315	ZEB2_HUMAN	zinc finger E-box binding homeobox 2	1054					cell proliferation in forebrain (GO:0021846)|developmental pigmentation (GO:0048066)|hippocampus development (GO:0021766)|melanocyte migration (GO:0097324)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|neural tube closure (GO:0001843)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of melanin biosynthetic process (GO:0048023)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of melanosome organization (GO:1903056)|somitogenesis (GO:0001756)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|phosphatase regulator activity (GO:0019208)			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(6)|large_intestine(23)|lung(45)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	107				BRCA - Breast invasive adenocarcinoma(221;0.112)		CACACTGATAGGGCTTCTCGC	0.512																																					Melanoma(33;1235 1264 5755 16332)	ENST00000558170.2																			0				breast(3)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(6)|large_intestine(23)|lung(45)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	107						c.(3160-3162)ccC>ccA		zinc finger E-box binding homeobox 2							58	56	57					2																	145147501		2203	4300	6503	SO:0001819	synonymous_variant	9839					cytoplasm|nucleolus	phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|SMAD binding|zinc ion binding	g.chr2:145147501G>T	AB011141	CCDS2186.1, CCDS54403.1	2q22.3	2013-01-08	2007-02-15	2007-02-15	ENSG00000169554	ENSG00000169554		"Zinc fingers, C2H2-type", "Homeoboxes / ZF class"	14881	protein-coding gene	gene with protein product	"SMAD interacting protein 1"	605802	"zinc finger homeobox 1b"	ZFHX1B			Standard	NM_014795		Approved	KIAA0569, SIP-1, SIP1	uc002tvu.3	O60315	OTTHUMG00000131834	ENST00000558170.2:c.3162C>A	2.37:g.145147501G>T						ZEB2_ENST00000409487.3_Silent_p.P1054P|ZEB2_ENST00000303660.4_Silent_p.P1054P|ZEB2_ENST00000539609.3_Silent_p.P1030P	p.P1054P	NM_014795.3	NP_055610.1	O60315	ZEB2_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.112)	10	4346	-			1054					A0JP09|B7Z2P2|F5H814|Q9UED1	Silent	SNP	ENST00000558170.2	37	c.3162C>A	CCDS2186.1																																																																																				0.512	ZEB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254778.5	NM_014795		12	17	1	0	0.00010058	1	0.000103117	12	17					T	145147501	G	T	145147501	2	4	435	1	0	0	0	0	0	0	0	1	17621	987	35	5		5	ZEB2	2	145147501	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	244197	145147501	98051872	1295	22220											
ZEB2	9839	broad.mit.edu	37	chr2	145274891	145274891	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ttgcgcctcttgcaccggggGccatccgccatgatcggctg	4	9	13	15	4	1	1	0	1	1	0	3	1	2	1	5	3	2	2	5	3	0	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:145274891G>A	ENST00000558170.2	-	2	1211	c.27C>T	c.(25-27)ggC>ggT	p.G9G	ZEB2-AS1_ENST00000609819.1_RNA|ZEB2-AS1_ENST00000602006.1_RNA|ZEB2-AS1_ENST00000421083.1_RNA|ZEB2-AS1_ENST00000428623.1_RNA|ZEB2_ENST00000493689.1_5'UTR|ZEB2_ENST00000470879.1_Silent_p.G9G|ZEB2-AS1_ENST00000609842.1_RNA|ZEB2_ENST00000465070.1_Silent_p.G9G|ZEB2-AS1_ENST00000610265.1_RNA|ZEB2-AS1_ENST00000608361.1_RNA|ZEB2-AS1_ENST00000595109.1_RNA|ZEB2_ENST00000539609.3_Silent_p.G9G|ZEB2_ENST00000303660.4_Silent_p.G9G|ZEB2-AS1_ENST00000427278.3_RNA|ZEB2_ENST00000462355.1_Silent_p.G9G|ZEB2-AS1_ENST00000609376.1_RNA|ZEB2_ENST00000409487.3_Silent_p.G9G	NM_014795.3	NP_055610.1	O60315	ZEB2_HUMAN	zinc finger E-box binding homeobox 2	9					cell proliferation in forebrain (GO:0021846)|developmental pigmentation (GO:0048066)|hippocampus development (GO:0021766)|melanocyte migration (GO:0097324)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|neural tube closure (GO:0001843)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of melanin biosynthetic process (GO:0048023)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of melanosome organization (GO:1903056)|somitogenesis (GO:0001756)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|phosphatase regulator activity (GO:0019208)			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(6)|large_intestine(23)|lung(45)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	107				BRCA - Breast invasive adenocarcinoma(221;0.112)		TGCACCGGGGGCCATCCGCCA	0.597																																					Melanoma(33;1235 1264 5755 16332)	ENST00000558170.2																			0				breast(3)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(6)|large_intestine(23)|lung(45)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	107						c.(25-27)ggC>ggT		zinc finger E-box binding homeobox 2							131	134	133					2																	145274891		2203	4300	6503	SO:0001819	synonymous_variant	9839					cytoplasm|nucleolus	phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|SMAD binding|zinc ion binding	g.chr2:145274891G>A	AB011141	CCDS2186.1, CCDS54403.1	2q22.3	2013-01-08	2007-02-15	2007-02-15	ENSG00000169554	ENSG00000169554		"Zinc fingers, C2H2-type", "Homeoboxes / ZF class"	14881	protein-coding gene	gene with protein product	"SMAD interacting protein 1"	605802	"zinc finger homeobox 1b"	ZFHX1B			Standard	NM_014795		Approved	KIAA0569, SIP-1, SIP1	uc002tvu.3	O60315	OTTHUMG00000131834	ENST00000558170.2:c.27C>T	2.37:g.145274891G>A						ZEB2_ENST00000409487.3_Silent_p.G9G|ZEB2_ENST00000303660.4_Silent_p.G9G|ZEB2_ENST00000462355.1_Silent_p.G9G|ZEB2_ENST00000493689.1_5'UTR|ZEB2_ENST00000470879.1_Silent_p.G9G|ZEB2_ENST00000465070.1_Silent_p.G9G|ZEB2_ENST00000539609.3_Silent_p.G9G	p.G9G	NM_014795.3	NP_055610.1	O60315	ZEB2_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.112)	2	1211	-			9					A0JP09|B7Z2P2|F5H814|Q9UED1	Silent	SNP	ENST00000558170.2	37	c.27C>T	CCDS2186.1																																																																																				0.597	ZEB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254778.5	NM_014795		32	67	0	0	0	1	0	32	67					A	145274891	G	A	145274891	2	1	435	1	0	0	0	0	0	0	0	1	17621	1190	42	3		3	ZEB2	2	145274891	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	127390	145274891	97924482	1296	22221											
MBD5	55777	broad.mit.edu	37	chr2	149247602	149247602	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catgaaaggcccaacaatgtCtctacactgccatttctgcc	11	10	6	14	0	2	1	0	1	2	0	3	1	2	1	3	1	4	0	3	1	4	2	rs144957555		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:149247602C>A	ENST00000407073.1	+	12	4699	c.3702C>A	c.(3700-3702)gtC>gtA	p.V1234V	MBD5_ENST00000404807.1_Silent_p.V1467V	NM_018328.4	NP_060798.2	Q9P267	MBD5_HUMAN	methyl-CpG binding domain protein 5	1234					glucose homeostasis (GO:0042593)|nervous system development (GO:0007399)|positive regulation of growth hormone receptor signaling pathway (GO:0060399)|regulation of multicellular organism growth (GO:0040014)|single-organism behavior (GO:0044708)	chromocenter (GO:0010369)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	chromatin binding (GO:0003682)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(16)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	62				BRCA - Breast invasive adenocarcinoma(221;0.0569)		CCAACAATGTCTCTACACTGC	0.453																																						ENST00000407073.1																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(16)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	62						c.(3700-3702)gtC>gtA		methyl-CpG binding domain protein 5							94	86	89					2																	149247602		2203	4300	6503	SO:0001819	synonymous_variant	0					chromosome|nucleus	chromatin binding|DNA binding	g.chr2:149247602C>A	AB040894	CCDS33302.1	2q23.2	2009-04-17			ENSG00000204406	ENSG00000204406			20444	protein-coding gene	gene with protein product		611472				12529184	Standard	NM_018328		Approved	FLJ11113, KIAA1461	uc002twm.4	Q9P267	OTTHUMG00000150440	ENST00000407073.1:c.3702C>A	2.37:g.149247602C>A						MBD5_ENST00000404807.1_Silent_p.V1467V	p.V1234V	NM_018328.4	NP_060798.2	Q9P267	MBD5_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0569)	12	4699	+			1234					A5HMQ4|A7E2B1|Q53SR1|Q9NUV6	Silent	SNP	ENST00000407073.1	37	c.3702C>A	CCDS33302.1																																																																																				0.453	MBD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318111.2			21	19	1	0	9.95505e-16	1	1.0907e-15	21	19					A	149247602	C	A	149247602	2	1	435	1	0	0	0	0	0	0	0	1	9347	900	32	5		5	MBD5	2	149247602	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	3972711	149247602	93951771	1297	22222											
LYPD6	130574	broad.mit.edu	37	chr2	150325226	150325226	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtatctcagtcaccaaacgCtgtgtcccactggaagagtg	11	9	10	11	1	2	1	2	0	1	1	4	2	3	2	2	1	1	2	2	1	3	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:150325226C>A	ENST00000334166.4	+	4	542	c.285C>A	c.(283-285)cgC>cgA	p.R95R	LYPD6_ENST00000409381.1_Silent_p.R95R	NM_194317.3	NP_919298.1	Q86Y78	LYPD6_HUMAN	LY6/PLAUR domain containing 6	95	UPAR/Ly6.					extracellular region (GO:0005576)				large_intestine(1)|lung(4)	5				BRCA - Breast invasive adenocarcinoma(221;0.0667)		TCACCAAACGCTGTGTCCCAC	0.483																																						ENST00000334166.4																			0				large_intestine(1)|lung(4)	5						c.(283-285)cgC>cgA		LY6/PLAUR domain containing 6							236	211	220					2																	150325226		2203	4300	6503	SO:0001819	synonymous_variant	130574					extracellular region		g.chr2:150325226C>A	BC047013	CCDS2188.1	2q23.2	2008-02-05			ENSG00000187123	ENSG00000187123			28751	protein-coding gene	gene with protein product		613359				12477932	Standard	NM_001195685		Approved	MGC52057	uc021vqt.1	Q86Y78	OTTHUMG00000131852	ENST00000334166.4:c.285C>A	2.37:g.150325226C>A						LYPD6_ENST00000409381.1_Silent_p.R95R	p.R95R	NM_194317.3	NP_919298.1	Q86Y78	LYPD6_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0667)	4	542	+			95			UPAR/Ly6.		B3KWC0|Q4G121|Q53TR3|Q659B1	Silent	SNP	ENST00000334166.4	37	c.285C>A	CCDS2188.1																																																																																				0.483	LYPD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254800.2	NM_194317		33	74	1	0	6.97489e-18	1	7.68957e-18	33	74					A	150325226	C	A	150325226	2	1	435	1	0	0	0	0	0	0	0	1	9114	784	28	5		5	LYPD6	2	150325226	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	1077624	150325226	92874147	1298	22223											
NMI	9111	broad.mit.edu	37	chr2	152132079	152132079	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cacctctccgcctccatttcGggactttgaaaagctcagct	8	11	7	15	2	2	1	1	1	1	0	5	2	3	2	4	1	2	2	4	1	2	2	rs367707415		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:152132079G>A	ENST00000243346.5	-	6	1023	c.553C>T	c.(553-555)Cga>Tga	p.R185*		NM_004688.2	NP_004679.2	Q13287	NMI_HUMAN	N-myc (and STAT) interactor	185					inflammatory response (GO:0006954)|JAK-STAT cascade (GO:0007259)|regulation of RNA biosynthetic process (GO:2001141)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	transcription cofactor activity (GO:0003712)			endometrium(2)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	11				BRCA - Breast invasive adenocarcinoma(221;0.0571)		CCTCCATTTCGGGACTTTGAA	0.453																																						ENST00000243346.5																			0				endometrium(2)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						c.(553-555)Cga>Tga		N-myc (and STAT) interactor		G	stop/ARG	1,4405	2.1+/-5.4	0,1,2202	95	95	95		553	3.5	0.1	2		95	0,8600		0,0,4300	no	stop-gained	NMI	NM_004688.2		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		185/308	152132079	1,13005	2203	4300	6503	SO:0001587	stop_gained	9111				inflammatory response|JAK-STAT cascade|transcription from RNA polymerase II promoter	cytoplasm|nucleus	nucleotide binding|protein binding|transcription cofactor activity	g.chr2:152132079G>A	U32849	CCDS2192.1	2q23	2008-05-23			ENSG00000123609	ENSG00000123609			7854	protein-coding gene	gene with protein product		603525				8668343, 9989503	Standard	NM_004688		Approved		uc002txi.2	Q13287	OTTHUMG00000131867	ENST00000243346.5:c.553C>T	2.37:g.152132079G>A	ENSP00000243346:p.Arg185*						p.R185*	NM_004688.2	NP_004679.2	Q13287	NMI_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0571)	6	1023	-			185					B5BU69|Q53TI8|Q9BVE5	Nonsense_Mutation	SNP	ENST00000243346.5	37	c.553C>T	CCDS2192.1	.	.	.	.	.	.	.	.	.	.	G	35	5.436255	0.96168	2.27E-4	0.0	ENSG00000123609	ENST00000243346	.	.	.	5.33	3.48	0.39840	.	0.559079	0.21159	N	0.079185	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-9.0676	6.5568	0.22464	0.0926:0.0:0.7223:0.1851	.	.	.	.	X	185	.	ENSP00000243346:R185X	R	-	1	2	NMI	151840325	0.413000	0.25400	0.084000	0.20598	0.058000	0.15608	0.701000	0.25616	0.703000	0.31848	0.591000	0.81541	CGA		0.453	NMI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254817.2	NM_004688		25	26	0	0	0	1	0	25	26					A	152132079	G	A	152132079	4	1	435	1	0	0	0	0	0	1	0	0	10497	1124	39	2	382	2	NMI	2	152132079	Nonsense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	1806853	152132079	91067294	1299	22224											
TNFAIP6	7130	broad.mit.edu	37	chr2	152220548	152220548	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcggtgtgtgaatttgaaggCggccatctcgcaacttacaa	10	10	12	9	3	1	2	0	2	1	0	2	2	1	2	1	3	2	1	1	3	5	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:152220548C>T	ENST00000243347.3	+	2	261	c.186C>T	c.(184-186)ggC>ggT	p.G62G		NM_007115.3	NP_009046.2	P98066	TSG6_HUMAN	tumor necrosis factor, alpha-induced protein 6	62	Link. {ECO:0000255|PROSITE- ProRule:PRU00323}.				cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|inflammatory response (GO:0006954)|signal transduction (GO:0007165)		hyaluronic acid binding (GO:0005540)			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	13				BRCA - Breast invasive adenocarcinoma(221;0.131)	Hyaluronan(DB08818)	AATTTGAAGGCGGCCATCTCG	0.448																																						ENST00000243347.3																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	13						c.(184-186)ggC>ggT		tumor necrosis factor, alpha-induced protein 6							69	66	67					2																	152220548		2203	4300	6503	SO:0001819	synonymous_variant	7130				cell adhesion|cell-cell signaling|inflammatory response|signal transduction		hyaluronic acid binding	g.chr2:152220548C>T		CCDS2193.1	2q23.3	2008-11-18			ENSG00000123610	ENSG00000123610			11898	protein-coding gene	gene with protein product		600410				1730767, 8568267, 15060082	Standard	NM_007115		Approved	TSG6, TSG-6	uc002txk.3	P98066	OTTHUMG00000131884	ENST00000243347.3:c.186C>T	2.37:g.152220548C>T							p.G62G	NM_007115.3	NP_009046.2	P98066	TSG6_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.131)	2	261	+			62			Link.		Q53TI7|Q8WWI9	Silent	SNP	ENST00000243347.3	37	c.186C>T	CCDS2193.1																																																																																				0.448	TNFAIP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254834.2	NM_007115		10	24	0	0	0	1	0	10	24					T	152220548	C	T	152220548	2	4	435	1	0	0	0	0	0	0	0	1	16272	755	27	1		1	TNFAIP6	2	152220548	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	88469	152220548	90978825	1300	22225											
NEB	4703	broad.mit.edu	37	chr2	152364588	152364588	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tccaaaacagtctcataataCgacatggacttctcagcatc	14	10	5	12	1	2	0	2	0	2	0	6	2	3	1	1	1	3	1	1	1	4	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:152364588C>T	ENST00000172853.10	-	134	18426	c.18279G>A	c.(18277-18279)tcG>tcA	p.S6093S	NEB_ENST00000603639.1_Silent_p.S7794S|NEB_ENST00000427231.2_Silent_p.S7794S|NEB_ENST00000397345.3_Silent_p.S7794S|NEB_ENST00000604864.1_Silent_p.S7794S|NEB_ENST00000509223.2_5'Flank|NEB_ENST00000409198.1_Silent_p.S6093S|NEB_ENST00000498015.2_5'Flank			P20929	NEBU_HUMAN	nebulin	6093					muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		TCTCATAATACGACATGGACT	0.428																																						ENST00000427231.2																			0				NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301						c.(23380-23382)tcG>tcA		nebulin							137	117	123					2																	152364588		1843	4093	5936	SO:0001819	synonymous_variant	4703				muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle	g.chr2:152364588C>T	X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"nemaline myopathy type 2"	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.18279G>A	2.37:g.152364588C>T						NEB_ENST00000172853.10_Silent_p.S6093S|NEB_ENST00000409198.1_Silent_p.S6093S|NEB_ENST00000604864.1_Silent_p.S7794S|NEB_ENST00000603639.1_Silent_p.S7794S|NEB_ENST00000397345.3_Silent_p.S7794S	p.S7794S	NM_001164507.1	NP_001157979.1	P20929	NEBU_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.219)	162	23584	-			6093					F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Silent	SNP	ENST00000172853.10	37	c.23382G>A		.	.	.	.	.	.	.	.	.	.	C	10.15	1.270613	0.23221	.	.	ENSG00000183091	ENST00000434685	.	.	.	5.35	-10.0	0.00425	.	.	.	.	.	T	0.43634	0.1256	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.52697	-0.8541	4	.	.	.	.	6.6553	0.22984	0.0783:0.2267:0.4958:0.1993	.	.	.	.	H	380	.	.	R	-	2	0	NEB	152072834	0.016000	0.18221	0.888000	0.34837	0.973000	0.67179	-1.105000	0.03323	-1.291000	0.02368	-1.085000	0.02201	CGT		0.428	NEB-201	KNOWN	basic	protein_coding	protein_coding		NM_004543		13	13	0	0	0	1	0	13	13					T	152364588	C	T	152364588	2	4	435	1	0	0	0	0	0	0	0	1	10302	523	19	1		1	NEB	2	152364588	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	144040	152364588	90834785	1301	22226											
NEB	4703	broad.mit.edu	37	chr2	152490260	152490260	+	Intron	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggtagttcttatagtccaCgtcactgactaaggtctggc	9	12	10	10	1	3	1	1	1	2	0	4	1	4	1	1	3	0	2	1	3	4	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:152490260C>T	ENST00000172853.10	-	63	9037				NEB_ENST00000603639.1_Missense_Mutation_p.V3108M|NEB_ENST00000427231.2_Missense_Mutation_p.V3108M|NEB_ENST00000397345.3_Missense_Mutation_p.V3108M|NEB_ENST00000604864.1_Missense_Mutation_p.V3108M|NEB_ENST00000409198.1_Intron			P20929	NEBU_HUMAN	nebulin						muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		TTATAGTCCACGTCACTGACT	0.542																																						ENST00000427231.2																			0				NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301						c.(9322-9324)Gtg>Atg		nebulin							199	158	171					2																	152490260		692	1591	2283	SO:0001627	intron_variant	4703				muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle	g.chr2:152490260C>T	X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"nemaline myopathy type 2"	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.8890-2927G>A	2.37:g.152490260C>T						NEB_ENST00000172853.10_Intron|NEB_ENST00000409198.1_Intron|NEB_ENST00000604864.1_Missense_Mutation_p.V3108M|NEB_ENST00000603639.1_Missense_Mutation_p.V3108M|NEB_ENST00000397345.3_Missense_Mutation_p.V3108M	p.V3108M	NM_001164507.1	NP_001157979.1	P20929	NEBU_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.219)	65	9524	-			3108					F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Missense_Mutation	SNP	ENST00000172853.10	37	c.9322G>A		.	.	.	.	.	.	.	.	.	.	C	14.06	2.422478	0.43020	.	.	ENSG00000183091	ENST00000397345;ENST00000427231	T;T	0.32753	1.44;1.44	6.02	-4.64	0.03349	.	.	.	.	.	T	0.44912	0.1316	M	0.75777	2.31	0.09310	N	1	.	.	.	.	.	.	T	0.56183	-0.8021	7	0.62326	D	0.03	.	15.9	0.79365	0.0:0.2562:0.0:0.7438	.	.	.	.	M	3108	ENSP00000380505:V3108M;ENSP00000416578:V3108M	ENSP00000380505:V3108M	V	-	1	0	NEB	152198506	0.000000	0.05858	0.000000	0.03702	0.989000	0.77384	-2.702000	0.00823	-0.744000	0.04778	0.650000	0.86243	GTG		0.542	NEB-201	KNOWN	basic	protein_coding	protein_coding		NM_004543		60	93	0	0	0	1	0	60	93					T	152490260	C	T	152490260	1	4	435	0	1	0	0	0	0	0	0	0	10302	536	19	1		1	NEB	2	152490260	Intron	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	125672	152490260	90709113	1302	22227											
NEB	4703	broad.mit.edu	37	chr2	152515628	152515628	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaaaataatctgggggataTcaggcatgatgtggactttg	12	11	12	6	0	2	1	1	1	1	0	2	3	2	3	1	4	0	1	1	4	4	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:152515628T>C	ENST00000172853.10	-	47	6173	c.6026A>G	c.(6025-6027)gAt>gGt	p.D2009G	NEB_ENST00000603639.1_Missense_Mutation_p.D2009G|NEB_ENST00000427231.2_Missense_Mutation_p.D2009G|NEB_ENST00000397345.3_Missense_Mutation_p.D2009G|NEB_ENST00000604864.1_Missense_Mutation_p.D2009G|NEB_ENST00000409198.1_Missense_Mutation_p.D2009G			P20929	NEBU_HUMAN	nebulin	2009					muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		CTGGGGGATATCAGGCATGAT	0.373																																						ENST00000427231.2																			0				NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301						c.(6025-6027)gAt>gGt		nebulin							235	227	230					2																	152515628		1866	4114	5980	SO:0001583	missense	4703				muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle	g.chr2:152515628T>C	X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"nemaline myopathy type 2"	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.6026A>G	2.37:g.152515628T>C	ENSP00000172853:p.Asp2009Gly					NEB_ENST00000172853.10_Missense_Mutation_p.D2009G|NEB_ENST00000409198.1_Missense_Mutation_p.D2009G|NEB_ENST00000604864.1_Missense_Mutation_p.D2009G|NEB_ENST00000603639.1_Missense_Mutation_p.D2009G|NEB_ENST00000397345.3_Missense_Mutation_p.D2009G	p.D2009G	NM_001164507.1	NP_001157979.1	P20929	NEBU_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.219)	47	6228	-			2009					F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Missense_Mutation	SNP	ENST00000172853.10	37	c.6026A>G		.	.	.	.	.	.	.	.	.	.	T	25.8	4.672691	0.88445	.	.	ENSG00000183091	ENST00000409198;ENST00000397345;ENST00000427231;ENST00000172853	T;T;T;T	0.68765	-0.35;-0.35;-0.35;-0.35	6.08	6.08	0.98989	.	0.000000	0.85682	D	0.000000	T	0.79969	0.4538	M	0.63208	1.945	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.80564	-0.1326	10	0.54805	T	0.06	.	15.6338	0.76933	0.0:0.0:0.0:1.0	.	2009	P20929	NEBU_HUMAN	G	2009	ENSP00000386259:D2009G;ENSP00000380505:D2009G;ENSP00000416578:D2009G;ENSP00000172853:D2009G	ENSP00000172853:D2009G	D	-	2	0	NEB	152223874	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.937000	0.63513	2.333000	0.79357	0.482000	0.46254	GAT		0.373	NEB-201	KNOWN	basic	protein_coding	protein_coding		NM_004543		65	97	0	0	0	1	0	65	97					C	152515628	T	C	152515628	3	2	435	1	0	0	0	0	1	0	0	0	10302	1435	50	4	20204	4	NEB	2	152515628	Missense_Mutation	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	25368	152515628	90683745	1303	22228											
STAM2	10254	broad.mit.edu	37	chr2	153003752	153003752	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagatatcagactaaactgaGggtccttctgaaattcttct	12	13	7	9	0	4	4	1	2	3	2	5	4	5	4	1	1	1	0	1	1	4	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:153003752G>T	ENST00000263904.4	-	5	720	c.371C>A	c.(370-372)cCt>cAt	p.P124H	STAM2_ENST00000465460.1_5'UTR	NM_005843.4	NP_005834.4	O75886	STAM2_HUMAN	signal transducing adaptor molecule (SH3 domain and ITAM motif) 2	124	VHS. {ECO:0000255|PROSITE- ProRule:PRU00218}.				endosomal transport (GO:0016197)|epidermal growth factor receptor signaling pathway (GO:0007173)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)				endometrium(3)|large_intestine(4)|lung(8)|ovary(1)	16				BRCA - Breast invasive adenocarcinoma(221;0.22)		ACTAAACTGAGGGTCCTTCTG	0.363																																						ENST00000263904.4																			0				endometrium(3)|large_intestine(4)|lung(8)|ovary(1)	16						c.(370-372)cCt>cAt		signal transducing adaptor molecule (SH3 domain and ITAM motif) 2							86	88	88					2																	153003752		2203	4300	6503	SO:0001583	missense	10254				cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway	cytosol|early endosome membrane	protein binding	g.chr2:153003752G>T	AF042274	CCDS2196.1	2q23.3	2009-04-29			ENSG00000115145	ENSG00000115145			11358	protein-coding gene	gene with protein product	"HSE1 homolog (S. cerevisiae)"	606244				10899310, 10993906	Standard	NM_005843		Approved	Hbp	uc002tyc.4	O75886	OTTHUMG00000131885	ENST00000263904.4:c.371C>A	2.37:g.153003752G>T	ENSP00000263904:p.Pro124His					STAM2_ENST00000465460.1_5'UTR	p.P124H	NM_005843.4	NP_005834.4	O75886	STAM2_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.22)	5	720	-			124			VHS.		A8K8A0|D3DPA1|Q7LDQ0|Q9UF58	Missense_Mutation	SNP	ENST00000263904.4	37	c.371C>A	CCDS2196.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.281954	0.80692	.	.	ENSG00000115145	ENST00000263904	T	0.26373	1.74	5.56	4.68	0.58851	Src homology-3 domain (1);VHS subgroup (1);ENTH/VHS (2);VHS (2);	0.000000	0.85682	D	0.000000	T	0.57242	0.2040	M	0.87758	2.905	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.996;0.997	T	0.67063	-0.5765	10	0.87932	D	0	-13.6298	15.874	0.79148	0.0:0.0:0.8634:0.1366	.	124;124	O75886-2;O75886	.;STAM2_HUMAN	H	124	ENSP00000263904:P124H	ENSP00000263904:P124H	P	-	2	0	STAM2	152711998	1.000000	0.71417	0.999000	0.59377	0.972000	0.66771	9.813000	0.99286	1.341000	0.45600	-0.169000	0.13324	CCT		0.363	STAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254835.2	NM_005843		35	66	1	0	3.11337e-16	1	3.41621e-16	35	66					T	153003752	G	T	153003752	3	4	435	1	0	0	0	0	1	0	0	0	15248	1000	35	5	1246	5	STAM2	2	153003752	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	488124	153003752	90195621	1304	22229											
FMNL2	114793	broad.mit.edu	37	chr2	153475606	153475606	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgggacccacaatgggggccGcttcctcaggacccttgccc	6	7	12	16	1	1	0	1	0	0	0	2	2	2	2	5	4	1	1	5	4	1	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:153475606G>A	ENST00000288670.9	+	14	1928	c.1561G>A	c.(1561-1563)Gct>Act	p.A521T	FMNL2_ENST00000475377.2_5'Flank	NM_052905.3	NP_443137.2	Q96PY5	FMNL2_HUMAN	formin-like 2	521					cortical actin cytoskeleton organization (GO:0030866)|cytoskeleton organization (GO:0007010)|regulation of cell morphogenesis (GO:0022604)	cytoplasm (GO:0005737)				central_nervous_system(2)|endometrium(3)|large_intestine(5)|liver(2)|lung(3)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	23						AATGGGGGCCGCTTCCTCAGG	0.572																																						ENST00000288670.9																			0				central_nervous_system(2)|endometrium(3)|large_intestine(5)|liver(2)|lung(3)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	23						c.(1561-1563)Gct>Act		formin-like 2							52	54	54					2																	153475606		1957	4140	6097	SO:0001583	missense	114793				actin cytoskeleton organization	cytoplasm	actin binding|Rho GTPase binding	g.chr2:153475606G>A	AB067489	CCDS46429.1	2q23.3	2008-02-05	2003-12-02	2003-12-03	ENSG00000157827	ENSG00000157827			18267	protein-coding gene	gene with protein product			"formin homology 2 domain containing 2"	FHOD2			Standard	XM_005246263		Approved	KIAA1902	uc002tye.3	Q96PY5	OTTHUMG00000154035	ENST00000288670.9:c.1561G>A	2.37:g.153475606G>A	ENSP00000288670:p.Ala521Thr						p.A521T	NM_052905.3	NP_443137.2	Q96PY5	FMNL2_HUMAN			14	1928	+			521					B2RZH5|Q14CC9|Q4ZG52|Q8N3E0	Missense_Mutation	SNP	ENST00000288670.9	37	c.1561G>A	CCDS46429.1	.	.	.	.	.	.	.	.	.	.	G	12.94	2.088533	0.36855	.	.	ENSG00000157827	ENST00000288670;ENST00000421344	T	0.22539	1.95	5.57	-5.22	0.02806	.	0.947535	0.08902	N	0.877035	T	0.08133	0.0203	N	0.14661	0.345	0.21740	N	0.99957	B	0.06786	0.001	B	0.04013	0.001	T	0.38802	-0.9644	10	0.14252	T	0.57	.	3.8533	0.08965	0.4235:0.1737:0.3218:0.081	.	521	Q96PY5-3	.	T	521;18	ENSP00000288670:A521T	ENSP00000288670:A521T	A	+	1	0	FMNL2	153183852	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-2.526000	0.00947	-0.865000	0.04073	-0.766000	0.03442	GCT		0.572	FMNL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333582.2	NM_052905		18	14	0	0	0	1	0	18	14					A	153475606	G	A	153475606	3	1	435	1	0	0	0	0	1	0	0	0	5952	1087	38	1	1615	1	FMNL2	2	153475606	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	471854	153475606	89723767	1305	22230											
GALNT13	114805	broad.mit.edu	37	chr2	155098657	155098657	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tacagtgtgataaatcgttcCccacactatctactctcaga	12	12	5	12	1	2	2	1	1	2	1	5	2	3	2	2	0	2	1	2	0	5	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:155098657C>T	ENST00000392825.3	+	5	993	c.426C>T	c.(424-426)tcC>tcT	p.S142S	GALNT13_ENST00000409237.1_Silent_p.S142S	NM_052917.2	NP_443149.2	Q8IUC8	GLT13_HUMAN	polypeptide N-acetylgalactosaminyltransferase 13	142	Catalytic subdomain A.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|lung(37)|ovary(3)|pancreas(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	65						TAAATCGTTCCCCACACTATC	0.373																																						ENST00000392825.3																			0				NS(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|lung(37)|ovary(3)|pancreas(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	65						c.(424-426)tcC>tcT		UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13 (GalNAc-T13)							129	119	123					2																	155098657		2203	4300	6503	SO:0001819	synonymous_variant	114805					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr2:155098657C>T	AB067505	CCDS2199.1	2q24.1	2014-03-13	2014-03-13		ENSG00000144278	ENSG00000144278	2.4.1.41	"Glycosyltransferase family 2 domain containing"	23242	protein-coding gene	gene with protein product	"UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13", "polypeptide GalNAc transferase 13"	608369	"UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13 (GalNAc-T13)"			11572484, 12407114	Standard	XM_005246267		Approved	KIAA1918, GalNAc-T13	uc002tyr.4	Q8IUC8	OTTHUMG00000131917	ENST00000392825.3:c.426C>T	2.37:g.155098657C>T						GALNT13_ENST00000409237.1_Silent_p.S142S	p.S142S	NM_052917.2	NP_443149.2	Q8IUC8	GLT13_HUMAN			5	993	+			142			Catalytic subdomain A.		Q08ER7|Q68VI8|Q6ZWG1|Q96PX0|Q9UIE5	Silent	SNP	ENST00000392825.3	37	c.426C>T	CCDS2199.1																																																																																				0.373	GALNT13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254870.2	NM_052917		11	29	0	0	0	1	0	11	29					T	155098657	C	T	155098657	2	4	435	1	0	0	0	0	0	0	0	1	6211	610	22	3		3	GALNT13	2	155098657	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	1623051	155098657	88100716	1306	22231											
NR4A2	4929	broad.mit.edu	37	chr2	157186101	157186101	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggctccgggttcatggggaCgtgcaggggcccgtcgaagc	5	6	19	11	4	1	0	1	0	0	0	3	2	2	1	2	6	2	3	2	6	1	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:157186101C>T	ENST00000339562.4	-	3	960	c.598G>A	c.(598-600)Gtc>Atc	p.V200I	NR4A2_ENST00000409572.1_Missense_Mutation_p.V200I|NR4A2_ENST00000429376.1_Missense_Mutation_p.V137I|NR4A2_ENST00000426264.1_Missense_Mutation_p.V137I|NR4A2_ENST00000409108.2_Missense_Mutation_p.V200I|NR4A2_ENST00000539077.1_Missense_Mutation_p.V211I	NM_006186.3	NP_006177.1	P43354	NR4A2_HUMAN	nuclear receptor subfamily 4, group A, member 2	200	Pro-rich.				adult locomotory behavior (GO:0008344)|cellular response to extracellular stimulus (GO:0031668)|cellular response to oxidative stress (GO:0034599)|central nervous system projection neuron axonogenesis (GO:0021952)|death (GO:0016265)|dopamine biosynthetic process (GO:0042416)|dopaminergic neuron differentiation (GO:0071542)|gene expression (GO:0010467)|general adaptation syndrome (GO:0051866)|habenula development (GO:0021986)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of neuron apoptotic process (GO:0043524)|neuron maturation (GO:0042551)|neuron migration (GO:0001764)|positive regulation of catalytic activity (GO:0043085)|post-embryonic development (GO:0009791)|regulation of dopamine metabolic process (GO:0042053)|regulation of respiratory gaseous exchange (GO:0043576)|response to amphetamine (GO:0001975)|response to hypoxia (GO:0001666)|response to inorganic substance (GO:0010035)|response to insecticide (GO:0017085)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(15)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1)	40						TTCATGGGGACGTGCAGGGGC	0.667																																						ENST00000339562.4																			0				breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(15)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1)	40						c.(598-600)Gtc>Atc		nuclear receptor subfamily 4, group A, member 2							32	42	39					2																	157186101		2195	4294	6489	SO:0001583	missense	0				cellular response to extracellular stimulus|dopaminergic neuron differentiation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to protein stimulus	nucleoplasm	sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	g.chr2:157186101C>T	X75918	CCDS2201.1	2q22-q23	2013-01-16			ENSG00000153234	ENSG00000153234		"Nuclear hormone receptors"	7981	protein-coding gene	gene with protein product		601828		NURR1		7706727	Standard	NM_006186		Approved	TINUR, NOT, RNR1, HZF-3	uc002tyz.4	P43354	OTTHUMG00000131950	ENST00000339562.4:c.598G>A	2.37:g.157186101C>T	ENSP00000344479:p.Val200Ile					NR4A2_ENST00000409108.2_Missense_Mutation_p.V200I|NR4A2_ENST00000409572.1_Missense_Mutation_p.V200I|NR4A2_ENST00000429376.1_Missense_Mutation_p.V137I|NR4A2_ENST00000539077.1_Missense_Mutation_p.V211I|NR4A2_ENST00000426264.1_Missense_Mutation_p.V137I	p.V200I	NM_006186.3	NP_006177.1	P43354	NR4A2_HUMAN			3	960	-			200			Pro-rich.		Q16311|Q53RZ2|Q6NXU0	Missense_Mutation	SNP	ENST00000339562.4	37	c.598G>A	CCDS2201.1	.	.	.	.	.	.	.	.	.	.	C	17.93	3.509142	0.64410	.	.	ENSG00000153234	ENST00000339562;ENST00000426264;ENST00000409572;ENST00000539077;ENST00000409108;ENST00000429376;ENST00000424077	D;D;D;D;D;D;T	0.91945	-2.73;-2.76;-2.73;-2.74;-2.94;-2.84;-1.08	5.72	5.72	0.89469	.	.	.	.	.	D	0.89192	0.6645	L	0.47716	1.5	0.58432	D	0.999991	B	0.26147	0.143	B	0.12837	0.008	D	0.85043	0.0924	9	0.21014	T	0.42	.	19.8968	0.96969	0.0:1.0:0.0:0.0	.	200	P43354	NR4A2_HUMAN	I	200;137;200;211;200;137;200	ENSP00000344479:V200I;ENSP00000389986:V137I;ENSP00000386747:V200I;ENSP00000444925:V211I;ENSP00000386993:V200I;ENSP00000410952:V137I;ENSP00000406808:V200I	ENSP00000344479:V200I	V	-	1	0	NR4A2	156894347	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.010000	0.57117	2.691000	0.91804	0.655000	0.94253	GTC		0.667	NR4A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254909.2			22	35	0	0	0	1	0	22	35					T	157186101	C	T	157186101	3	4	435	1	0	0	0	0	1	0	0	0	10633	536	19	1	1222	1	NR4A2	2	157186101	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	2087444	157186101	86013272	1307	22232											
GPD2	2820	broad.mit.edu	37	chr2	157425436	157425436	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tatctcccgaaatcatgttgTtgatatcagtgagagtggcc	10	13	10	8	1	3	2	2	2	1	1	4	4	3	2	2	1	0	2	2	1	3	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:157425436T>G	ENST00000310454.6	+	10	1637	c.1265T>G	c.(1264-1266)gTt>gGt	p.V422G	GPD2_ENST00000438166.2_Missense_Mutation_p.V422G|GPD2_ENST00000409674.1_Missense_Mutation_p.V422G|GPD2_ENST00000409125.4_Missense_Mutation_p.V195G|GPD2_ENST00000540309.1_Intron	NM_001083112.2	NP_001076581.2	P43304	GPDM_HUMAN	glycerol-3-phosphate dehydrogenase 2 (mitochondrial)	422					camera-type eye development (GO:0043010)|cellular lipid metabolic process (GO:0044255)|gluconeogenesis (GO:0006094)|glycerol catabolic process (GO:0019563)|glycerol-3-phosphate metabolic process (GO:0006072)|multicellular organism growth (GO:0035264)|small molecule metabolic process (GO:0044281)	glycerol-3-phosphate dehydrogenase complex (GO:0009331)|mitochondrial inner membrane (GO:0005743)	calcium ion binding (GO:0005509)|glycerol-3-phosphate dehydrogenase activity (GO:0004368)|sn-glycerol-3-phosphate:ubiquinone-8 oxidoreductase activity (GO:0052591)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(1)|stomach(1)	22						AATCATGTTGTTGATATCAGT	0.408																																						ENST00000310454.6																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(1)|stomach(1)	22						c.(1264-1266)gTt>gGt		glycerol-3-phosphate dehydrogenase 2 (mitochondrial)							238	221	227					2																	157425436		2203	4300	6503	SO:0001583	missense	2820				cellular lipid metabolic process	glycerol-3-phosphate dehydrogenase complex|mitochondrial inner membrane	calcium ion binding|sn-glycerol-3-phosphate:ubiquinone-8 oxidoreductase activity	g.chr2:157425436T>G		CCDS2202.1	2q24.1	2013-01-10			ENSG00000115159	ENSG00000115159	1.1.1.8	"EF-hand domain containing"	4456	protein-coding gene	gene with protein product		138430					Standard	NM_001083112		Approved		uc002tzd.4	P43304	OTTHUMG00000131951	ENST00000310454.6:c.1265T>G	2.37:g.157425436T>G	ENSP00000308610:p.Val422Gly					GPD2_ENST00000540309.1_Intron|GPD2_ENST00000409125.4_Missense_Mutation_p.V195G|GPD2_ENST00000409674.1_Missense_Mutation_p.V422G|GPD2_ENST00000438166.2_Missense_Mutation_p.V422G	p.V422G	NM_001083112.2	NP_001076581.2	P43304	GPDM_HUMAN			10	1637	+			422					A8K4V0|B3KSA9|Q59FR1|Q9HAP9	Missense_Mutation	SNP	ENST00000310454.6	37	c.1265T>G	CCDS2202.1	.	.	.	.	.	.	.	.	.	.	T	26.8	4.773735	0.90108	.	.	ENSG00000115159	ENST00000310454;ENST00000409125;ENST00000438166;ENST00000409674	D;D;D;D	0.84223	-1.82;-1.82;-1.82;-1.82	5.68	5.68	0.88126	FAD dependent oxidoreductase (1);	0.000000	0.85682	D	0.000000	D	0.95092	0.8410	H	0.97051	3.93	0.80722	D	1	D	0.63046	0.992	D	0.77557	0.99	D	0.96671	0.9496	10	0.87932	D	0	.	15.9431	0.79773	0.0:0.0:0.0:1.0	.	422	P43304	GPDM_HUMAN	G	422;195;422;422	ENSP00000308610:V422G;ENSP00000386484:V195G;ENSP00000409708:V422G;ENSP00000386425:V422G	ENSP00000308610:V422G	V	+	2	0	GPD2	157133682	1.000000	0.71417	0.996000	0.52242	0.975000	0.68041	8.040000	0.89188	2.176000	0.68965	0.477000	0.44152	GTT		0.408	GPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254910.3			57	102	0	0	0	1	0	57	102					G	157425436	T	G	157425436	3	3	435	1	0	0	0	0	1	0	0	0	6606	1725	60	5	1299	5	GPD2	2	157425436	Missense_Mutation	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	239335	157425436	85773937	1308	22233											
CYTIP	9595	broad.mit.edu	37	chr2	158283926	158283926	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atcattgttccattaagagtCtctatcctgttttaaggaaa	12	16	6	7	0	2	1	1	0	1	1	5	2	4	2	2	1	0	2	2	1	4	6			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:158283926C>T	ENST00000264192.3	-	6	604	c.483G>A	c.(481-483)gaG>gaA	p.E161E	CYTIP_ENST00000540637.1_Silent_p.E55E	NM_004288.4	NP_004279.3	O60759	CYTIP_HUMAN	cytohesin 1 interacting protein	161	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				regulation of cell adhesion (GO:0030155)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|endosome (GO:0005768)|nucleus (GO:0005634)				breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	15						CATTAAGAGTCTCTATCCTGT	0.353																																						ENST00000264192.3																			0				breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	15						c.(481-483)gaG>gaA		cytohesin 1 interacting protein							47	46	46					2																	158283926		2201	4297	6498	SO:0001819	synonymous_variant	9595				regulation of cell adhesion	cell cortex|early endosome	protein binding	g.chr2:158283926C>T	L06633	CCDS2204.1	2q11.2	2011-09-08	2008-08-14	2008-08-19	ENSG00000115165	ENSG00000115165			9506	protein-coding gene	gene with protein product	"cytohesin binding protein HE", "cytohesin binder and regulator"	604448	"pleckstrin homology, Sec7 and coiled-coil domains, binding protein"	PSCDBP		18926288, 10343115, 11867758, 20530790, 21562043	Standard	NM_004288		Approved	B3-1, HE, CYBR, CASP, CYTHIP	uc002tzj.1	O60759	OTTHUMG00000154551	ENST00000264192.3:c.483G>A	2.37:g.158283926C>T						CYTIP_ENST00000540637.1_Silent_p.E55E	p.E161E	NM_004288.4	NP_004279.3	O60759	CYTIP_HUMAN			6	604	-			161			PDZ.		B4DWH9|Q15630|Q8NE32	Silent	SNP	ENST00000264192.3	37	c.483G>A	CCDS2204.1																																																																																				0.353	CYTIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254926.1	NM_004288		7	13	0	0	0	1	0	7	13					T	158283926	C	T	158283926	2	4	435	1	0	0	0	0	0	0	0	1	4207	912	32	3		3	CYTIP	2	158283926	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	858490	158283926	84915447	1309	22234											
CYTIP	9595	broad.mit.edu	37	chr2	158290895	158290895	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tgcccacctgaatttcaaatCcaaatgtttcattatcctgc	11	14	4	12	0	2	1	2	1	0	0	4	1	4	1	4	0	2	1	4	0	4	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:158290895C>T	ENST00000264192.3	-	3	387	c.266G>A	c.(265-267)gGa>gAa	p.G89E	CYTIP_ENST00000540637.1_5'UTR|CYTIP_ENST00000497432.1_5'UTR	NM_004288.4	NP_004279.3	O60759	CYTIP_HUMAN	cytohesin 1 interacting protein	89	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				regulation of cell adhesion (GO:0030155)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|endosome (GO:0005768)|nucleus (GO:0005634)				breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	15						AATTTCAAATCCAAATGTTTC	0.338																																						ENST00000264192.3																			0				breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	15						c.(265-267)gGa>gAa		cytohesin 1 interacting protein							97	108	104					2																	158290895		2202	4300	6502	SO:0001583	missense	9595				regulation of cell adhesion	cell cortex|early endosome	protein binding	g.chr2:158290895C>T	L06633	CCDS2204.1	2q11.2	2011-09-08	2008-08-14	2008-08-19	ENSG00000115165	ENSG00000115165			9506	protein-coding gene	gene with protein product	"cytohesin binding protein HE", "cytohesin binder and regulator"	604448	"pleckstrin homology, Sec7 and coiled-coil domains, binding protein"	PSCDBP		18926288, 10343115, 11867758, 20530790, 21562043	Standard	NM_004288		Approved	B3-1, HE, CYBR, CASP, CYTHIP	uc002tzj.1	O60759	OTTHUMG00000154551	ENST00000264192.3:c.266G>A	2.37:g.158290895C>T	ENSP00000264192:p.Gly89Glu					CYTIP_ENST00000540637.1_5'UTR|CYTIP_ENST00000497432.1_5'UTR	p.G89E	NM_004288.4	NP_004279.3	O60759	CYTIP_HUMAN			3	387	-			89			PDZ.		B4DWH9|Q15630|Q8NE32	Missense_Mutation	SNP	ENST00000264192.3	37	c.266G>A	CCDS2204.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.171747	0.78452	.	.	ENSG00000115165	ENST00000264192;ENST00000439355	T;T	0.77620	-1.11;-0.81	5.92	5.04	0.67666	PDZ/DHR/GLGF (4);	0.098719	0.64402	D	0.000001	D	0.86159	0.5866	M	0.69185	2.1	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.87451	0.2401	10	0.87932	D	0	-15.297	13.1004	0.59216	0.0:0.8391:0.1609:0.0	.	89	O60759	CYTIP_HUMAN	E	89;54	ENSP00000264192:G89E;ENSP00000402771:G54E	ENSP00000264192:G89E	G	-	2	0	CYTIP	157999141	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.556000	0.67307	1.502000	0.48669	0.638000	0.83543	GGA		0.338	CYTIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254926.1	NM_004288		16	31	0	0	0	1	0	16	31					T	158290895	C	T	158290895	3	4	435	1	0	0	0	0	1	0	0	0	4207	855	30	3	837	3	CYTIP	2	158290895	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	6969	158290895	84908478	1310	22235											
UPP2	151531	broad.mit.edu	37	chr2	158991382	158991382	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctccaacttcatcagacggCggcttggactttgtgactag	8	12	10	11	2	3	2	2	1	1	1	4	3	3	3	1	3	1	1	1	3	2	4	rs560916486		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:158991382C>T	ENST00000005756.4	+	7	1128	c.934C>T	c.(934-936)Cgg>Tgg	p.R312W	UPP2_ENST00000409859.4_Missense_Mutation_p.R369W|UPP2_ENST00000460456.1_3'UTR|UPP2-IT1_ENST00000439185.1_RNA|UPP2_ENST00000605860.1_Missense_Mutation_p.R369W	NM_173355.3	NP_775491.1	O95045	UPP2_HUMAN	uridine phosphorylase 2	312					nucleobase-containing small molecule metabolic process (GO:0055086)|nucleoside metabolic process (GO:0009116)|nucleotide catabolic process (GO:0009166)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|pyrimidine nucleoside salvage (GO:0043097)|small molecule metabolic process (GO:0044281)|UMP salvage (GO:0044206)|uridine metabolic process (GO:0046108)	cytosol (GO:0005829)|type III intermediate filament (GO:0045098)	uridine phosphorylase activity (GO:0004850)			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	31					Fluorouracil(DB00544)	CATCAGACGGCGGCTTGGACT	0.493																																						ENST00000605860.1																			0				breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	31						c.(1105-1107)Cgg>Tgg		uridine phosphorylase 2							140	127	131					2																	158991382		2203	4300	6503	SO:0001583	missense	151531				nucleotide catabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process|pyrimidine nucleoside salvage|uridine metabolic process	cytosol|type III intermediate filament	uridine phosphorylase activity	g.chr2:158991382C>T	AY225131	CCDS2207.1, CCDS46435.1	2q24.2	2008-02-05			ENSG00000007001	ENSG00000007001			23061	protein-coding gene	gene with protein product						12849978	Standard	NM_173355		Approved	UPASE2, UP2, UDRPASE2	uc002tzo.3	O95045	OTTHUMG00000131969	ENST00000005756.4:c.934C>T	2.37:g.158991382C>T	ENSP00000005756:p.Arg312Trp					UPP2_ENST00000005756.4_Missense_Mutation_p.R312W|UPP2_ENST00000409859.4_Missense_Mutation_p.R369W|UPP2_ENST00000460456.1_3'UTR	p.R369W			O95045	UPP2_HUMAN			10	1151	+			312					B3KV87	Missense_Mutation	SNP	ENST00000005756.4	37	c.1105C>T	CCDS2207.1	.	.	.	.	.	.	.	.	.	.	C	12.92	2.082107	0.36758	.	.	ENSG00000007001	ENST00000409859;ENST00000005756	T;T	0.33438	1.41;1.45	5.07	-2.86	0.05717	.	0.487974	0.22845	N	0.054923	T	0.18964	0.0455	L	0.49126	1.545	0.35325	D	0.785097	B	0.15141	0.012	B	0.04013	0.001	T	0.04840	-1.0923	10	0.59425	D	0.04	.	0.6987	0.00904	0.3836:0.2556:0.1252:0.2356	.	312	O95045	UPP2_HUMAN	W	369;312	ENSP00000387230:R369W;ENSP00000005756:R312W	ENSP00000005756:R312W	R	+	1	2	UPP2	158699628	1.000000	0.71417	0.002000	0.10522	0.879000	0.50718	1.767000	0.38501	-0.864000	0.04078	-0.979000	0.02580	CGG		0.493	UPP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254929.2	NM_173355		19	38	0	0	0	1	0	19	38					T	158991382	C	T	158991382	3	4	435	1	0	0	0	0	1	0	0	0	17010	759	27	1	1139	1	UPP2	2	158991382	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	700487	158991382	84207991	1311	22236											
CCDC148	130940	broad.mit.edu	37	chr2	159077216	159077217	+	Frame_Shift_Ins	INS	-	-	T																															tgttttttcttggcccagtaINStttttttatctattgtataa																										TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:159077216_159077217insT	ENST00000283233.5	-	11	1573_1574	c.1260_1261insA	c.(1258-1263)aaatacfs	p.Y421fs	CCDC148_ENST00000409187.1_Frame_Shift_Ins_p.Y430fs|CCDC148-AS1_ENST00000412781.2_RNA	NM_138803.3	NP_620158.3	Q8NFR7	CC148_HUMAN	coiled-coil domain containing 148	421	Glu/Lys-rich.							p.K420fs*15(1)		endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	23						TTGGCCCAGTATTTTTTTATCT	0.317																																						ENST00000283233.5																			1	Deletion - Frameshift(1)	p.K420fs*15(1)	large_intestine(1)	endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	23						c.(1258-1263)aaactgfs		coiled-coil domain containing 148																																				SO:0001589	frameshift_variant	130940							g.chr2:159077216_159077217insT		CCDS33304.1	2q24.1	2007-12-07			ENSG00000153237	ENSG00000153237			25191	protein-coding gene	gene with protein product							Standard	NM_138803		Approved	MGC125588	uc002tzq.3	Q8NFR7	OTTHUMG00000153973	ENST00000283233.5:c.1261dupA	2.37:g.159077223_159077223dupT	ENSP00000283233:p.Tyr421fs					CCDC148-AS1_ENST00000412781.2_RNA|CCDC148_ENST00000409187.1_Frame_Shift_Ins_p.L430fs	p.L421fs	NM_138803.3	NP_620158.3	Q8NFR7	CC148_HUMAN			11	1573_1574	-			421			Glu/Lys-rich.		F5H839|Q3B7I3|Q3B7I4|Q3KR41|Q4ZG12|Q4ZG23|Q53TM6|Q96BN5|Q96LM2	Frame_Shift_Ins	INS	ENST00000283233.5	37	c.1260_1261insA	CCDS33304.1																																																																																				0.317	CCDC148-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333270.1	NM_138803		15	24						15	24	---	---	---	---	T	159077217	-	T	159077216	7	5	435	1	0	1	1	0	0	0	0	0	2782	449	16	0	530	0	CCDC148	2	159077216	Frame_Shift_Ins	INS	-	TCGA-XK-AAIW-01A-11D-A41K-08	85834	159077216	84122157	1312	22237											
TANC1	85461	broad.mit.edu	37	chr2	160035216	160035216	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atctccctgaatggcaaggcCgatgccacactcattggaaa	12	8	9	12	1	2	1	1	1	1	0	3	3	2	2	3	3	1	1	3	3	3	1	rs201508550		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:160035216C>T	ENST00000263635.6	+	14	2289	c.2052C>T	c.(2050-2052)gcC>gcT	p.A684A	TANC1_ENST00000454300.1_Silent_p.A578A	NM_001145909.1|NM_033394.2	NP_001139381.1|NP_203752.2	Q9C0D5	TANC1_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1	684					dendritic spine maintenance (GO:0097062)|myoblast fusion (GO:0007520)|visual learning (GO:0008542)	axon terminus (GO:0043679)|cell junction (GO:0030054)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)				breast(3)|central_nervous_system(4)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(25)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	77						ATGGCAAGGCCGATGCCACAC	0.587																																						ENST00000263635.6																			0				breast(3)|central_nervous_system(4)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(25)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	77						c.(2050-2052)gcC>gcT		tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1							53	57	55					2																	160035216		2159	4238	6397	SO:0001819	synonymous_variant	85461					cell junction|postsynaptic density|postsynaptic membrane	binding	g.chr2:160035216C>T	AB051515	CCDS42766.1	2q24.2	2013-01-11			ENSG00000115183	ENSG00000115183		"Ankyrin repeat domain containing", "Tetratricopeptide (TTC) repeat domain containing"	29364	protein-coding gene	gene with protein product	"rolling pebbles homolog B (Drosophila)"	611397				15673434	Standard	NM_033394		Approved	KIAA1728, ROLSB	uc002uag.3	Q9C0D5	OTTHUMG00000153945	ENST00000263635.6:c.2052C>T	2.37:g.160035216C>T						TANC1_ENST00000454300.1_Silent_p.A578A	p.A684A	NM_001145909.1|NM_033394.2	NP_001139381.1|NP_203752.2	Q9C0D5	TANC1_HUMAN			14	2289	+			684					C9JD88|Q49AI8	Silent	SNP	ENST00000263635.6	37	c.2052C>T	CCDS42766.1																																																																																				0.587	TANC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333135.1			7	31	0	0	0	1	0	7	31					T	160035216	C	T	160035216	2	4	435	1	0	0	0	0	0	0	0	1	15541	639	23	2		2	TANC1	2	160035216	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	958000	160035216	83164157	1313	22238											
TANC1	85461	broad.mit.edu	37	chr2	160050801	160050801	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgattttgggaggggccaacGtgaactacaggacagaagtg	12	8	15	6	1	0	3	0	2	0	1	0	5	0	5	1	4	3	0	1	4	4	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:160050801G>A	ENST00000263635.6	+	17	3013	c.2776G>A	c.(2776-2778)Gtg>Atg	p.V926M	TANC1_ENST00000454300.1_Missense_Mutation_p.V820M	NM_001145909.1|NM_033394.2	NP_001139381.1|NP_203752.2	Q9C0D5	TANC1_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1	926					dendritic spine maintenance (GO:0097062)|myoblast fusion (GO:0007520)|visual learning (GO:0008542)	axon terminus (GO:0043679)|cell junction (GO:0030054)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)				breast(3)|central_nervous_system(4)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(25)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	77						AGGGGCCAACGTGAACTACAG	0.502																																						ENST00000263635.6																			0				breast(3)|central_nervous_system(4)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(25)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	77						c.(2776-2778)Gtg>Atg		tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1							77	77	77					2																	160050801		1969	4153	6122	SO:0001583	missense	85461					cell junction|postsynaptic density|postsynaptic membrane	binding	g.chr2:160050801G>A	AB051515	CCDS42766.1	2q24.2	2013-01-11			ENSG00000115183	ENSG00000115183		"Ankyrin repeat domain containing", "Tetratricopeptide (TTC) repeat domain containing"	29364	protein-coding gene	gene with protein product	"rolling pebbles homolog B (Drosophila)"	611397				15673434	Standard	NM_033394		Approved	KIAA1728, ROLSB	uc002uag.3	Q9C0D5	OTTHUMG00000153945	ENST00000263635.6:c.2776G>A	2.37:g.160050801G>A	ENSP00000263635:p.Val926Met					TANC1_ENST00000454300.1_Missense_Mutation_p.V820M	p.V926M	NM_001145909.1|NM_033394.2	NP_001139381.1|NP_203752.2	Q9C0D5	TANC1_HUMAN			17	3013	+			926					C9JD88|Q49AI8	Missense_Mutation	SNP	ENST00000263635.6	37	c.2776G>A	CCDS42766.1	.	.	.	.	.	.	.	.	.	.	G	28.9	4.963867	0.92791	.	.	ENSG00000115183	ENST00000454300;ENST00000263635	T;T	0.69040	2.19;-0.37	5.64	5.64	0.86602	Ankyrin repeat-containing domain (3);	0.000000	0.85682	D	0.000000	D	0.84120	0.5402	M	0.82630	2.6	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.986	D	0.85080	0.0945	10	0.59425	D	0.04	.	19.7763	0.96395	0.0:0.0:1.0:0.0	.	918;820;926	B9EK39;Q9C0D5-2;Q9C0D5	.;.;TANC1_HUMAN	M	820;926	ENSP00000396339:V820M;ENSP00000263635:V926M	ENSP00000263635:V926M	V	+	1	0	TANC1	159759047	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.783000	0.75078	2.685000	0.91497	0.650000	0.86243	GTG		0.502	TANC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333135.1			8	53	0	0	0	1	0	8	53					A	160050801	G	A	160050801	3	1	435	1	0	0	0	0	1	0	0	0	15541	1145	40	1	2834	1	TANC1	2	160050801	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	15585	160050801	83148572	1314	22239											
BAZ2B	29994	broad.mit.edu	37	chr2	160182235	160182235	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtaaaactttcttgttttgaCaagttaatagaagtgttttc	12	18	7	4	0	1	2	0	1	1	1	2	2	1	2	0	0	1	4	0	0	6	9			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:160182235C>T	ENST00000392783.2	-	35	6633	c.6138G>A	c.(6136-6138)ttG>ttA	p.L2046L	BAZ2B_ENST00000392782.1_Silent_p.L2010L|BAZ2B_ENST00000355831.2_Silent_p.L2012L|BAZ2B_ENST00000343439.5_Silent_p.L1946L	NM_013450.2	NP_038478.2	Q9UIF8	BAZ2B_HUMAN	bromodomain adjacent to zinc finger domain, 2B	2046					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	82						CTTGTTTTGACAAGTTAATAG	0.343																																						ENST00000392783.2																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	82						c.(6136-6138)ttG>ttA		bromodomain adjacent to zinc finger domain, 2B							158	149	152					2																	160182235		1817	4072	5889	SO:0001819	synonymous_variant	29994				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr2:160182235C>T	AB032255	CCDS2209.2, CCDS74594.1	2q24.2	2013-01-28			ENSG00000123636	ENSG00000123636		"Zinc fingers, PHD-type"	963	protein-coding gene	gene with protein product		605683				10662543	Standard	XM_005246488		Approved	WALp4	uc002uao.3	Q9UIF8	OTTHUMG00000132027	ENST00000392783.2:c.6138G>A	2.37:g.160182235C>T						BAZ2B_ENST00000343439.5_Silent_p.L1946L|BAZ2B_ENST00000355831.2_Silent_p.L2012L|BAZ2B_ENST00000392782.1_Silent_p.L2010L	p.L2046L	NM_013450.2	NP_038478.2	Q9UIF8	BAZ2B_HUMAN			35	6633	-			2046					D3DPA8|Q96EA1|Q96SQ8|Q9P252|Q9Y4N8	Silent	SNP	ENST00000392783.2	37	c.6138G>A	CCDS2209.2																																																																																				0.343	BAZ2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255037.2			19	59	0	0	0	1	0	19	59					T	160182235	C	T	160182235	2	4	435	1	0	0	0	0	0	0	0	1	1332	477	17	3		3	BAZ2B	2	160182235	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	131434	160182235	83017138	1315	22240											
LY75	4065	broad.mit.edu	37	chr2	160755563	160755563	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ccatggacgatggtgaagggGtcattagctgagtcaaatgg	11	9	15	6	1	2	2	2	2	0	0	2	4	2	3	1	5	1	1	1	5	3	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:160755563G>T	ENST00000263636.4	-	2	129	c.102C>A	c.(100-102)gaC>gaA	p.D34E	LY75_ENST00000553424.1_Missense_Mutation_p.D34E|LY75-CD302_ENST00000505052.1_Missense_Mutation_p.D34E|LY75-CD302_ENST00000504764.1_Missense_Mutation_p.D34E|LY75_ENST00000554112.1_Missense_Mutation_p.D34E	NM_002349.3	NP_002340.2	O60449	LY75_HUMAN	lymphocyte antigen 75	34	Ricin B-type lectin. {ECO:0000255|PROSITE-ProRule:PRU00174}.				endocytosis (GO:0006897)|immune response (GO:0006955)|inflammatory response (GO:0006954)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)			NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(22)|prostate(7)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	59				COAD - Colon adenocarcinoma(177;0.132)		TGGTGAAGGGGTCATTAGCTG	0.493																																						ENST00000263636.4																			0				NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(22)|prostate(7)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	59						c.(100-102)gaC>gaA		lymphocyte antigen 75							154	150	151					2																	160755563		2203	4300	6503	SO:0001583	missense	4065							g.chr2:160755563G>T	AF011333	CCDS2211.1	2q24	2011-08-30			ENSG00000054219	ENSG00000054219		"CD molecules", "C-type lectin domain containing"	6729	protein-coding gene	gene with protein product		604524				9553150	Standard	NM_002349		Approved	DEC-205, CLEC13B, CD205		O60449	OTTHUMG00000132025	ENST00000263636.4:c.102C>A	2.37:g.160755563G>T	ENSP00000263636:p.Asp34Glu					LY75-CD302_ENST00000505052.1_Missense_Mutation_p.D34E|LY75_ENST00000554112.1_Missense_Mutation_p.D34E|LY75_ENST00000553424.1_Missense_Mutation_p.D34E|LY75-CD302_ENST00000504764.1_Missense_Mutation_p.D34E	p.D34E	NM_002349.3	NP_002340.2				COAD - Colon adenocarcinoma(177;0.132)	2	129	-								O75913|Q53R46|Q53TF5|Q7Z575|Q7Z577	Missense_Mutation	SNP	ENST00000263636.4	37	c.102C>A	CCDS2211.1	.	.	.	.	.	.	.	.	.	.	G	13.37	2.216585	0.39201	.	.	ENSG00000054219;ENSG00000054219;ENSG00000054219;ENSG00000248672;ENSG00000248672	ENST00000554112;ENST00000553424;ENST00000263636;ENST00000504764;ENST00000505052	T;T;T;T;T	0.27720	1.65;1.65;1.65;1.65;1.65	6.02	-1.17	0.09648	Ricin B-related lectin (1);Ricin B lectin (2);	0.729926	0.11202	N	0.588738	T	0.25531	0.0621	M	0.74258	2.255	0.27799	N	0.942565	B;P;P	0.47762	0.056;0.9;0.873	B;B;B	0.40602	0.045;0.334;0.291	T	0.19451	-1.0305	10	0.29301	T	0.29	-3.5499	1.6649	0.02799	0.5175:0.1271:0.2329:0.1226	.	34;34;34	O60449-3;O60449;O60449-2	.;LY75_HUMAN;.	E	34	ENSP00000451511:D34E;ENSP00000451446:D34E;ENSP00000263636:D34E;ENSP00000423463:D34E;ENSP00000421035:D34E	ENSP00000423463:D34E	D	-	3	2	LY75;LY75-CD302	160463809	0.398000	0.25279	0.979000	0.43373	0.657000	0.38888	0.414000	0.21164	-0.131000	0.11578	-0.302000	0.09304	GAC		0.493	LY75-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000255035.1			20	83	1	0	4.16121e-05	1	4.27859e-05	20	83					T	160755563	G	T	160755563	3	4	435	1	0	0	0	0	1	0	0	0	9099	1252	44	5	5202	5	LY75	2	160755563	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	573328	160755563	82443810	1316	22241											
ITGB6	3694	broad.mit.edu	37	chr2	160982962	160982962	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctgaggctccagggtttgtgCaaacacacttgccacaaaca	12	8	9	12	0	0	1	0	1	0	0	1	1	1	1	2	2	4	3	2	2	2	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:160982962C>T	ENST00000283249.2	-	11	2048	c.1811G>A	c.(1810-1812)tGc>tAc	p.C604Y	ITGB6_ENST00000409967.2_Intron|ITGB6_ENST00000428609.2_Missense_Mutation_p.C562Y|ITGB6_ENST00000409872.1_Missense_Mutation_p.C604Y	NM_001282353.1|NM_001282354.1|NM_001282388.1	NP_001269282.1|NP_001269283.1|NP_001269317.1	P18564	ITB6_HUMAN	integrin, beta 6	604	Cysteine-rich tandem repeats.				cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)|inflammatory response (GO:0006954)|integrin-mediated signaling pathway (GO:0007229)|multicellular organismal development (GO:0007275)|viral process (GO:0016032)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	virus receptor activity (GO:0001618)			breast(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	23						AGGGTTTGTGCAAACACACTT	0.552																																						ENST00000283249.2																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	23						c.(1810-1812)tGc>tAc		integrin, beta 6							103	88	93					2																	160982962		2203	4300	6503	SO:0001583	missense	3694				cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|multicellular organismal development	integrin complex	receptor activity	g.chr2:160982962C>T		CCDS2212.1, CCDS63040.1, CCDS74596.1, CCDS74597.1	2q24.2	2010-03-23			ENSG00000115221	ENSG00000115221		"Integrins"	6161	protein-coding gene	gene with protein product		147558				1729173, 8120056	Standard	NM_001282353		Approved		uc002ubh.2	P18564	OTTHUMG00000132026	ENST00000283249.2:c.1811G>A	2.37:g.160982962C>T	ENSP00000283249:p.Cys604Tyr					ITGB6_ENST00000428609.2_Missense_Mutation_p.C562Y|ITGB6_ENST00000409967.2_Intron|ITGB6_ENST00000409872.1_Missense_Mutation_p.C604Y	p.C604Y			P18564	ITB6_HUMAN			11	2048	-			604			Cysteine-rich tandem repeats.		B2R9W5|C9JA97|Q0VA95|Q16500|Q53RG5|Q53RR6	Missense_Mutation	SNP	ENST00000283249.2	37	c.1811G>A	CCDS2212.1	.	.	.	.	.	.	.	.	.	.	C	19.26	3.793200	0.70452	.	.	ENSG00000115221	ENST00000283249;ENST00000428609;ENST00000409872	D;D;D	0.97831	-4.56;-4.56;-4.56	5.48	5.48	0.80851	EGF, extracellular (1);	0.000000	0.85682	D	0.000000	D	0.99405	0.9790	H	0.99299	4.505	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	D	0.98179	1.0456	10	0.87932	D	0	.	19.3636	0.94453	0.0:1.0:0.0:0.0	.	562;604	E9PEE8;P18564	.;ITB6_HUMAN	Y	604;562;604	ENSP00000283249:C604Y;ENSP00000408024:C562Y;ENSP00000386367:C604Y	ENSP00000283249:C604Y	C	-	2	0	ITGB6	160691208	1.000000	0.71417	0.995000	0.50966	0.276000	0.26787	7.818000	0.86416	2.573000	0.86826	0.655000	0.94253	TGC		0.552	ITGB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255036.1	NM_000888		5	26	0	0	0	1	0	5	26					T	160982962	C	T	160982962	3	4	435	1	0	0	0	0	1	0	0	0	7899	710	25	3	575	3	ITGB6	2	160982962	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	227399	160982962	82216411	1317	22242											
ITGB6	3694	broad.mit.edu	37	chr2	161056553	161056553	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcctagaaatagaaagaacaGgcaaagcagttcaatcccca	18	6	7	10	0	1	3	1	0	0	3	3	3	3	3	3	1	2	3	3	1	7	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:161056553G>T	ENST00000283249.2	-	1	259	c.22C>A	c.(22-24)Ctg>Atg	p.L8M	ITGB6_ENST00000409967.2_Missense_Mutation_p.L8M|ITGB6_ENST00000485635.1_Intron|ITGB6_ENST00000428609.2_De_novo_Start_OutOfFrame|ITGB6_ENST00000409872.1_Missense_Mutation_p.L8M	NM_001282353.1|NM_001282354.1|NM_001282388.1	NP_001269282.1|NP_001269283.1|NP_001269317.1	P18564	ITB6_HUMAN	integrin, beta 6	8					cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)|inflammatory response (GO:0006954)|integrin-mediated signaling pathway (GO:0007229)|multicellular organismal development (GO:0007275)|viral process (GO:0016032)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	virus receptor activity (GO:0001618)			breast(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	23						AGAAAGAACAGGCAAAGCAGT	0.403																																						ENST00000428609.2																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	23								integrin, beta 6							136	122	126					2																	161056553		2203	4300	6503	SO:0001583	missense	3694				cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|multicellular organismal development	integrin complex	receptor activity	g.chr2:161056553G>T		CCDS2212.1, CCDS63040.1, CCDS74596.1, CCDS74597.1	2q24.2	2010-03-23			ENSG00000115221	ENSG00000115221		"Integrins"	6161	protein-coding gene	gene with protein product		147558				1729173, 8120056	Standard	NM_001282353		Approved		uc002ubh.2	P18564	OTTHUMG00000132026	ENST00000283249.2:c.22C>A	2.37:g.161056553G>T	ENSP00000283249:p.Leu8Met					ITGB6_ENST00000485635.1_Intron|ITGB6_ENST00000283249.2_Missense_Mutation_p.L8M|ITGB6_ENST00000409967.2_Missense_Mutation_p.L8M|ITGB6_ENST00000409872.1_Missense_Mutation_p.L8M				P18564	ITB6_HUMAN			0	210	-								B2R9W5|C9JA97|Q0VA95|Q16500|Q53RG5|Q53RR6	Translation_Start_Site	SNP	ENST00000283249.2	37		CCDS2212.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.281795	0.80692	.	.	ENSG00000115221	ENST00000283249;ENST00000409967;ENST00000409872	D;D;D	0.90900	-2.61;-2.75;-2.61	5.83	4.96	0.65561	.	0.168676	0.40908	D	0.000991	D	0.89825	0.6827	M	0.67953	2.075	0.42377	D	0.992478	P	0.45396	0.857	B	0.42030	0.373	D	0.90204	0.4259	10	0.54805	T	0.06	.	14.7127	0.69244	0.0693:0.0:0.9307:0.0	.	8	P18564	ITB6_HUMAN	M	8	ENSP00000283249:L8M;ENSP00000386828:L8M;ENSP00000386367:L8M	ENSP00000283249:L8M	L	-	1	2	ITGB6	160764799	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	3.440000	0.52886	1.485000	0.48380	0.591000	0.81541	CTG		0.403	ITGB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255036.1	NM_000888		11	26	1	0	6.40141e-05	1	6.5734e-05	11	26					T	161056553	G	T	161056553	3	4	435	1	0	0	0	0	1	0	0	0	7899	991	35	5	2404	5	ITGB6	2	161056553	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	73591	161056553	82142820	1318	22243											
RBMS1	5937	broad.mit.edu	37	chr2	161137851	161137851	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ctgtagaatatatggttgagGttgcatccacgaaggacttt	11	13	11	6	1	0	2	0	1	0	1	1	4	1	3	1	3	1	4	1	3	5	6			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:161137851G>A	ENST00000348849.3	-	10	1355	c.925C>T	c.(925-927)Cct>Tct	p.P309S	RBMS1_ENST00000409972.1_Missense_Mutation_p.P273S|RBMS1_ENST00000392753.3_Missense_Mutation_p.P322S|RBMS1_ENST00000409075.1_Missense_Mutation_p.P273S|RBMS1_ENST00000474820.1_5'UTR|RBMS1_ENST00000409289.2_Missense_Mutation_p.P273S	NM_002897.4|NM_016836.3	NP_002888.1|NP_058520.1	P29558	RBMS1_HUMAN	RNA binding motif, single stranded interacting protein 1	309					DNA replication (GO:0006260)|RNA processing (GO:0006396)	nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)		PLA2R1/RBMS1(2)								TATGGTTGAGGTTGCATCCAC	0.313																																						ENST00000348849.3																		PLA2R1/RBMS1(2)	0											c.(925-927)Cct>Tct		RNA binding motif, single stranded interacting protein 1							79	85	83					2																	161137851		2203	4300	6503	SO:0001583	missense	5937				DNA replication|RNA processing	nucleus	double-stranded DNA binding|nucleotide binding|protein binding|RNA binding|single-stranded DNA binding	g.chr2:161137851G>A	D28482	CCDS2213.1	2q24.2	2013-02-12			ENSG00000153250	ENSG00000153250		"RNA binding motif (RRM) containing"	9907	protein-coding gene	gene with protein product	"suppressor of cdc 2 (cdc13) with RNA binding motif 2", "c-myc gene single strand binding protein 2"	602310	"chromosome 2 open reading frame 12"	C2orf12		8041632, 8134115, 7838710	Standard	NM_016836		Approved	SCR2, MSSP-1, MSSP-2, MSSP-3, YC1, HCC-4, DKFZp564H0764	uc002ubo.3	P29558	OTTHUMG00000132031	ENST00000348849.3:c.925C>T	2.37:g.161137851G>A	ENSP00000294904:p.Pro309Ser					RBMS1_ENST00000409972.1_Missense_Mutation_p.P273S|RBMS1_ENST00000474820.1_5'UTR|RBMS1_ENST00000409289.2_Missense_Mutation_p.P273S|RBMS1_ENST00000392753.3_Missense_Mutation_p.P322S|RBMS1_ENST00000409075.1_Missense_Mutation_p.P273S	p.P309S	NM_002897.4|NM_016836.3	NP_002888.1|NP_058520.1	P29558	RBMS1_HUMAN			10	1355	-			309					Q14869|Q15433|Q53P46|Q53QX8|Q53RG6|Q8WV20	Missense_Mutation	SNP	ENST00000348849.3	37	c.925C>T	CCDS2213.1	.	.	.	.	.	.	.	.	.	.	G	12.14	1.847641	0.32606	.	.	ENSG00000153250	ENST00000348849;ENST00000409075;ENST00000409289;ENST00000392753;ENST00000409972	T;T;T;T;T	0.23147	1.92;2.09;2.09;1.93;2.09	5.74	5.74	0.90152	.	0.048436	0.85682	D	0.000000	T	0.23370	0.0565	N	0.14661	0.345	0.80722	D	1	B;B;P;B;B;B	0.36535	0.008;0.004;0.557;0.004;0.008;0.024	B;B;B;B;B;B	0.41764	0.016;0.004;0.366;0.01;0.016;0.016	T	0.03566	-1.1024	10	0.35671	T	0.21	.	19.9214	0.97087	0.0:0.0:1.0:0.0	.	188;309;306;191;273;322	Q5CZ65;P29558;P29558-2;Q5CZ66;E7ETU5;B4DN88	.;RBMS1_HUMAN;.;.;.;.	S	309;273;273;322;273	ENSP00000294904:P309S;ENSP00000386347:P273S;ENSP00000386571:P273S;ENSP00000376508:P322S;ENSP00000387280:P273S	ENSP00000294904:P309S	P	-	1	0	RBMS1	160846097	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.582000	0.98214	2.716000	0.92895	0.563000	0.77884	CCT		0.313	RBMS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255043.4	NM_016836		29	45	0	0	0	1	0	29	45					A	161137851	G	A	161137851	3	1	435	1	0	0	0	0	1	0	0	0	13148	1261	44	3	311	3	RBMS1	2	161137851	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	81298	161137851	82061522	1319	22244											
PSMD14	10213	broad.mit.edu	37	chr2	162224311	162224311	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acagatgttaaaacatggccGtgctggagttccaatggaag	13	9	12	7	1	0	1	0	0	0	1	1	3	1	3	2	3	2	3	2	3	4	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:162224311G>A	ENST00000409682.3	+	5	841	c.137G>A	c.(136-138)cGt>cAt	p.R46H		NM_005805.5	NP_005796.1	O00487	PSDE_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 14	46	MPN.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|double-strand break repair via homologous recombination (GO:0000724)|double-strand break repair via nonhomologous end joining (GO:0006303)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of endopeptidase activity (GO:0010950)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K63-linked deubiquitination (GO:0070536)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of proteasomal protein catabolic process (GO:0061136)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)|proteasome regulatory particle, lid subcomplex (GO:0008541)	endopeptidase activator activity (GO:0061133)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|proteasome binding (GO:0070628)|ubiquitin thiolesterase activity (GO:0004221)	p.R46H(1)		breast(1)|endometrium(1)|large_intestine(2)|lung(6)|prostate(2)	12						AAACATGGCCGTGCTGGAGTT	0.388																																						ENST00000409682.3																			1	Substitution - Missense(1)	p.R46H(1)	lung(1)	breast(1)|endometrium(1)|large_intestine(2)|lung(6)|prostate(2)	12						c.(136-138)cGt>cAt		proteasome (prosome, macropain) 26S subunit, non-ATPase, 14							124	116	118					2																	162224311		1906	4132	6038	SO:0001583	missense	10213				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K63-linked deubiquitination|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of proteasomal protein catabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome complex	endopeptidase activator activity|metal ion binding|metallopeptidase activity|proteasome binding|ubiquitin thiolesterase activity	g.chr2:162224311G>A	U86782	CCDS46437.1	2q14.3	2008-05-22			ENSG00000115233	ENSG00000115233		"Proteasome (prosome, macropain) subunits"	16889	protein-coding gene	gene with protein product		607173				9374539	Standard	NM_005805		Approved	POH1, pad1, Rpn11	uc002ubu.3	O00487	OTTHUMG00000153882	ENST00000409682.3:c.137G>A	2.37:g.162224311G>A	ENSP00000386541:p.Arg46His						p.R46H	NM_005805.5	NP_005796.1	O00487	PSDE_HUMAN			5	841	+			46			MPN.		B3KNW2|O00176	Missense_Mutation	SNP	ENST00000409682.3	37	c.137G>A	CCDS46437.1	.	.	.	.	.	.	.	.	.	.	G	36	5.678389	0.96764	.	.	ENSG00000115233	ENST00000409682;ENST00000437630	T;T	0.56275	0.47;0.47	5.94	5.94	0.96194	.	0.046806	0.85682	D	0.000000	T	0.71333	0.3327	M	0.65677	2.01	0.80722	D	1	D	0.69078	0.997	D	0.62955	0.909	T	0.72207	-0.4360	10	0.87932	D	0	-1.5151	20.3593	0.98849	0.0:0.0:1.0:0.0	.	46	O00487	PSDE_HUMAN	H	46	ENSP00000386541:R46H;ENSP00000399311:R46H	ENSP00000386541:R46H	R	+	2	0	PSMD14	161932557	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.869000	0.99810	2.807000	0.96579	0.591000	0.81541	CGT		0.388	PSMD14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332833.1	NM_005805		7	14	0	0	0	1	0	7	14					A	162224311	G	A	162224311	3	1	435	1	0	0	0	0	1	0	0	0	12697	1145	40	1	147	1	PSMD14	2	162224311	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	1086460	162224311	80975062	1320	22245											
FAP	2191	broad.mit.edu	37	chr2	163044731	163044731	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacacccagctttcgatacaCtgcatagaggagtttgtcac	12	10	8	11	1	1	1	1	0	0	1	2	3	1	2	1	1	4	3	1	1	3	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:163044731C>T	ENST00000188790.4	-	20	1969	c.1762G>A	c.(1762-1764)Gtg>Atg	p.V588M	FAP_ENST00000443424.1_Missense_Mutation_p.V563M	NM_004460.2	NP_004451.2			fibroblast activation protein, alpha											NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(34)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)	63						TTTCGATACACTGCATAGAGG	0.433																																						ENST00000188790.4																			0				NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(34)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)	63						c.(1762-1764)Gtg>Atg		fibroblast activation protein, alpha							169	154	159					2																	163044731		2203	4300	6503	SO:0001583	missense	2191				endothelial cell migration|negative regulation of extracellular matrix disassembly|proteolysis	cell junction|integral to membrane|invadopodium membrane|lamellipodium membrane	dipeptidyl-peptidase activity|metalloendopeptidase activity|protein homodimerization activity|serine-type endopeptidase activity	g.chr2:163044731C>T	U09278	CCDS33311.1	2q23	2008-02-05			ENSG00000078098	ENSG00000078098			3590	protein-coding gene	gene with protein product	"seprase"	600403				9247085, 14707457	Standard	NM_004460		Approved	DPPIV	uc002ucd.3	Q12884	OTTHUMG00000153890	ENST00000188790.4:c.1762G>A	2.37:g.163044731C>T	ENSP00000188790:p.Val588Met					FAP_ENST00000443424.1_Missense_Mutation_p.V563M	p.V588M	NM_004460.2	NP_004451.2	Q12884	SEPR_HUMAN			20	1969	-			588						Missense_Mutation	SNP	ENST00000188790.4	37	c.1762G>A	CCDS33311.1	.	.	.	.	.	.	.	.	.	.	C	17.98	3.521069	0.64747	.	.	ENSG00000078098	ENST00000188790;ENST00000443424	T;T	0.32988	1.43;1.43	6.07	6.07	0.98685	Peptidase S9, prolyl oligopeptidase, catalytic domain (1);	0.113017	0.64402	D	0.000008	T	0.55561	0.1928	M	0.73319	2.225	0.51767	D	0.999937	P;D;D	0.76494	0.797;0.996;0.999	P;P;D	0.75484	0.643;0.856;0.986	T	0.55579	-0.8119	10	0.87932	D	0	-11.7812	15.3849	0.74691	0.1393:0.8607:0.0:0.0	.	563;67;588	B4DLR2;Q12884-2;Q12884	.;.;SEPR_HUMAN	M	588;563	ENSP00000188790:V588M;ENSP00000411391:V563M	ENSP00000188790:V588M	V	-	1	0	FAP	162752977	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	4.229000	0.58625	2.885000	0.99019	0.655000	0.94253	GTG		0.433	FAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332852.2			18	36	0	0	0	1	0	18	36					T	163044731	C	T	163044731	3	4	435	1	0	0	0	0	1	0	0	0	5673	565	20	3	548	3	FAP	2	163044731	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	820420	163044731	80154642	1321	22246											
KCNH7	90134	broad.mit.edu	37	chr2	163280016	163280016	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tctttggataattgcagataCattcccaaaaatgcttgcat	13	14	6	8	0	1	1	0	0	1	1	2	2	2	2	1	1	4	3	1	1	4	6			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:163280016C>T	ENST00000332142.5	-	9	2083	c.1984G>A	c.(1984-1986)Gta>Ata	p.V662I	KCNH7_ENST00000328032.4_Missense_Mutation_p.V655I	NM_033272.3	NP_150375.2	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 7	662					circadian rhythm (GO:0007623)|potassium ion transmembrane transport (GO:0071805)|protein heterooligomerization (GO:0051291)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	inward rectifier potassium channel activity (GO:0005242)|signal transducer activity (GO:0004871)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Doxazosin(DB00590)|Ibutilide(DB00308)|Miconazole(DB01110)|Prazosin(DB00457)|Terazosin(DB01162)	ATTGCAGATACATTCCCAAAA	0.403																																					GBM(196;1492 2208 17507 24132 45496)	ENST00000332142.5																			0				NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108						c.(1984-1986)Gta>Ata		potassium voltage-gated channel, subfamily H (eag-related), member 7	Ibutilide(DB00308)						118	116	117					2																	163280016		2203	4300	6503	SO:0001583	missense	90134				regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity	g.chr2:163280016C>T	AF032897	CCDS2219.1, CCDS2220.1	2q24.3	2012-07-05			ENSG00000184611	ENSG00000184611		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	18863	protein-coding gene	gene with protein product		608169				16382104	Standard	NM_173162		Approved	Kv11.3, HERG3, erg3	uc002uch.2	Q9NS40	OTTHUMG00000132069	ENST00000332142.5:c.1984G>A	2.37:g.163280016C>T	ENSP00000331727:p.Val662Ile					KCNH7_ENST00000328032.4_Missense_Mutation_p.V655I	p.V662I	NM_033272.3	NP_150375.2	Q9NS40	KCNH7_HUMAN			9	2083	-			662					Q53QU4|Q53TB7|Q53TP9|Q8IV15	Missense_Mutation	SNP	ENST00000332142.5	37	c.1984G>A	CCDS2219.1	.	.	.	.	.	.	.	.	.	.	C	35	5.424539	0.96111	.	.	ENSG00000184611	ENST00000332142;ENST00000328032	D;D	0.97924	-4.61;-4.61	5.95	5.95	0.96441	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.98713	0.9568	M	0.78456	2.415	0.80722	D	1	D;D	0.71674	0.998;0.988	D;D	0.72625	0.978;0.946	D	0.99501	1.0953	10	0.87932	D	0	.	20.3932	0.98965	0.0:1.0:0.0:0.0	.	655;662	Q9NS40-2;Q9NS40	.;KCNH7_HUMAN	I	662;655	ENSP00000331727:V662I;ENSP00000333781:V655I	ENSP00000333781:V655I	V	-	1	0	KCNH7	162988262	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.818000	0.86416	2.824000	0.97209	0.655000	0.94253	GTA		0.403	KCNH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255093.1	NM_033272		24	45	0	0	0	1	0	24	45					T	163280016	C	T	163280016	3	4	435	1	0	0	0	0	1	0	0	0	8037	478	17	3	1704	3	KCNH7	2	163280016	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	235285	163280016	79919357	1322	22247											
KCNH7	90134	broad.mit.edu	37	chr2	163292018	163292018	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagagcattagaacagcagcGccatattctgaatatcgatc	15	9	8	9	2	1	3	0	1	1	2	3	4	1	3	1	0	4	2	1	0	6	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:163292018G>A	ENST00000332142.5	-	8	1743	c.1644C>T	c.(1642-1644)ggC>ggT	p.G548G	KCNH7_ENST00000328032.4_Silent_p.G541G	NM_033272.3	NP_150375.2	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 7	548					circadian rhythm (GO:0007623)|potassium ion transmembrane transport (GO:0071805)|protein heterooligomerization (GO:0051291)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	inward rectifier potassium channel activity (GO:0005242)|signal transducer activity (GO:0004871)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Doxazosin(DB00590)|Ibutilide(DB00308)|Miconazole(DB01110)|Prazosin(DB00457)|Terazosin(DB01162)	GAACAGCAGCGCCATATTCTG	0.463																																					GBM(196;1492 2208 17507 24132 45496)	ENST00000332142.5																			0				NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108						c.(1642-1644)ggC>ggT		potassium voltage-gated channel, subfamily H (eag-related), member 7	Ibutilide(DB00308)						82	78	80					2																	163292018		2203	4300	6503	SO:0001819	synonymous_variant	90134				regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity	g.chr2:163292018G>A	AF032897	CCDS2219.1, CCDS2220.1	2q24.3	2012-07-05			ENSG00000184611	ENSG00000184611		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	18863	protein-coding gene	gene with protein product		608169				16382104	Standard	NM_173162		Approved	Kv11.3, HERG3, erg3	uc002uch.2	Q9NS40	OTTHUMG00000132069	ENST00000332142.5:c.1644C>T	2.37:g.163292018G>A						KCNH7_ENST00000328032.4_Silent_p.G541G	p.G548G	NM_033272.3	NP_150375.2	Q9NS40	KCNH7_HUMAN			8	1743	-			548					Q53QU4|Q53TB7|Q53TP9|Q8IV15	Silent	SNP	ENST00000332142.5	37	c.1644C>T	CCDS2219.1																																																																																				0.463	KCNH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255093.1	NM_033272		6	15	0	0	0	1	0	6	15					A	163292018	G	A	163292018	2	1	435	1	0	0	0	0	0	0	0	1	8037	1074	38	1		1	KCNH7	2	163292018	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	12002	163292018	79907355	1323	22248											
FIGN	55137	broad.mit.edu	37	chr2	164467699	164467699	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgtagtagcccagagctatGcaaaggagacggatgaggtg	12	7	15	7	1	0	3	0	1	0	2	0	5	0	4	1	3	3	4	1	3	4	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:164467699G>A	ENST00000333129.3	-	3	957	c.643C>T	c.(643-645)Cat>Tat	p.H215Y	FIGN_ENST00000409634.1_Intron|FIGN_ENST00000482917.1_5'Flank	NM_018086.2	NP_060556.2	Q5HY92	FIGN_HUMAN	fidgetin	215	Pro-rich.				mitotic nuclear division (GO:0007067)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nuclear matrix (GO:0016363)	ATP binding (GO:0005524)			breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(1)|prostate(2)|skin(1)	47						CCAGAGCTATGCAAAGGAGAC	0.527																																						ENST00000333129.3																			0				breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(1)|prostate(2)|skin(1)	47						c.(643-645)Cat>Tat		fidgetin							73	81	79					2																	164467699		2051	4200	6251	SO:0001583	missense	55137					nuclear matrix	ATP binding|nucleoside-triphosphatase activity	g.chr2:164467699G>A	AK001267	CCDS2221.2	2q24	2010-04-21			ENSG00000182263	ENSG00000182263		"ATPases / AAA-type"	13285	protein-coding gene	gene with protein product		605295				11017077	Standard	XM_005246661		Approved		uc002uck.1	Q5HY92	OTTHUMG00000074059	ENST00000333129.3:c.643C>T	2.37:g.164467699G>A	ENSP00000333836:p.His215Tyr					FIGN_ENST00000409634.1_Intron	p.H215Y	NM_018086.2	NP_060556.2	Q5HY92	FIGN_HUMAN			3	957	-			215			Pro-rich.		B3KWM0|Q9H6M5|Q9NVZ9	Missense_Mutation	SNP	ENST00000333129.3	37	c.643C>T	CCDS2221.2	.	.	.	.	.	.	.	.	.	.	G	16.01	3.000811	0.54254	.	.	ENSG00000182263	ENST00000333129	T	0.44881	0.91	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.54631	0.1870	M	0.62723	1.935	0.80722	D	1	D	0.53885	0.963	P	0.49421	0.61	T	0.53301	-0.8458	10	0.59425	D	0.04	-8.5084	20.8794	0.99867	0.0:0.0:1.0:0.0	.	215	Q5HY92	FIGN_HUMAN	Y	215	ENSP00000333836:H215Y	ENSP00000333836:H215Y	H	-	1	0	FIGN	164175945	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.869000	0.99810	2.941000	0.99782	0.655000	0.94253	CAT		0.527	FIGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157220.2	NM_018086		17	21	0	0	0	1	0	17	21					A	164467699	G	A	164467699	3	1	435	1	0	0	0	0	1	0	0	0	5891	1319	46	3	1640	3	FIGN	2	164467699	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	1175681	164467699	78731674	1324	22249											
GRB14	2888	broad.mit.edu	37	chr2	165404231	165404231	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggtcatcaatgtaatgattCttcaggatcaacagctgaca	13	12	8	8	0	5	2	4	2	1	0	5	3	5	3	0	2	2	2	0	2	3	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:165404231C>A	ENST00000263915.3	-	3	958	c.420G>T	c.(418-420)aaG>aaT	p.K140N	GRB14_ENST00000543549.1_Missense_Mutation_p.K53N	NM_004490.2	NP_004481.2	Q14449	GRB14_HUMAN	growth factor receptor-bound protein 14	140	Ras-associating. {ECO:0000255|PROSITE- ProRule:PRU00166}.				blood coagulation (GO:0007596)|leukocyte migration (GO:0050900)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	SH3/SH2 adaptor activity (GO:0005070)			breast(3)|endometrium(2)|large_intestine(6)|lung(10)|ovary(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	32						TGTAATGATTCTTCAGGATCA	0.438																																						ENST00000263915.3																			0				breast(3)|endometrium(2)|large_intestine(6)|lung(10)|ovary(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	32						c.(418-420)aaG>aaT		growth factor receptor-bound protein 14							98	89	92					2																	165404231		2203	4300	6503	SO:0001583	missense	2888				blood coagulation|leukocyte migration	cytosol|endosome membrane|Golgi membrane|microsome|plasma membrane	SH3/SH2 adaptor activity	g.chr2:165404231C>A		CCDS2222.1	2q22-q24	2013-02-14			ENSG00000115290	ENSG00000115290		"Pleckstrin homology (PH) domain containing", "SH2 domain containing"	4565	protein-coding gene	gene with protein product		601524				8812444	Standard	XM_005246477		Approved		uc002ucl.3	Q14449	OTTHUMG00000132135	ENST00000263915.3:c.420G>T	2.37:g.165404231C>A	ENSP00000263915:p.Lys140Asn					GRB14_ENST00000543549.1_Missense_Mutation_p.K53N	p.K140N	NM_004490.2	NP_004481.2	Q14449	GRB14_HUMAN			3	958	-			140			Ras-associating.		B7Z7F9|Q7Z6I1	Missense_Mutation	SNP	ENST00000263915.3	37	c.420G>T	CCDS2222.1	.	.	.	.	.	.	.	.	.	.	C	15.15	2.748324	0.49257	.	.	ENSG00000115290	ENST00000263915;ENST00000543549;ENST00000446413;ENST00000424693	T;T;T;T	0.31769	1.48;1.48;1.48;1.48	5.1	4.22	0.49857	Ras-association (3);	0.048974	0.85682	D	0.000000	T	0.60170	0.2248	M	0.88906	2.99	0.80722	D	1	D;D	0.76494	0.999;0.997	D;D	0.69824	0.966;0.933	T	0.69397	-0.5156	10	0.87932	D	0	-7.8438	13.8234	0.63336	0.0:0.926:0.0:0.074	.	53;140	B7Z7F9;Q14449	.;GRB14_HUMAN	N	140;53;95;82	ENSP00000263915:K140N;ENSP00000443699:K53N;ENSP00000416786:K95N;ENSP00000401702:K82N	ENSP00000263915:K140N	K	-	3	2	GRB14	165112477	1.000000	0.71417	1.000000	0.80357	0.017000	0.09413	4.790000	0.62453	1.284000	0.44531	-0.136000	0.14681	AAG		0.438	GRB14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255180.2			16	53	1	0	1.99824e-07	1	2.09433e-07	16	53					A	165404231	C	A	165404231	3	1	435	1	0	0	0	0	1	0	0	0	6757	912	32	5	1250	5	GRB14	2	165404231	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	936532	165404231	77795142	1325	22250											
COBLL1	22837	broad.mit.edu	37	chr2	165548758	165548758	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aatttggcagcagcctctccCgaacggattgcagtcagcaa	11	8	10	12	2	2	0	1	0	1	0	3	2	2	1	2	2	5	4	2	2	3	2	rs143772614	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:165548758C>T	ENST00000392717.2	-	14	3505	c.3501G>A	c.(3499-3501)tcG>tcA	p.S1167S	COBLL1_ENST00000194871.6_Silent_p.S1196S|COBLL1_ENST00000409184.3_Silent_p.S1129S|COBLL1_ENST00000342193.4_Silent_p.S1129S|COBLL1_ENST00000375458.2_Silent_p.S1091S			Q53SF7	COBL1_HUMAN	cordon-bleu WH2 repeat protein-like 1	1167	WH2. {ECO:0000255|PROSITE- ProRule:PRU00406}.					extracellular vesicular exosome (GO:0070062)				central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	47						CAGCCTCTCCCGAACGGATTG	0.428																																						ENST00000375458.2																			0				central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	47						c.(3271-3273)tcG>tcA		cordon-bleu WH2 repeat protein-like 1		C		0,4406		0,0,2203	82	78	80		3387	-2.6	1	2	dbSNP_134	80	4,8596	3.7+/-12.6	0,4,4296	no	coding-synonymous	COBLL1	NM_014900.3		0,4,6499	TT,TC,CC		0.0465,0.0,0.0308		1129/1167	165548758	4,13002	2203	4300	6503	SO:0001819	synonymous_variant	22837							g.chr2:165548758C>T	AB023194	CCDS2223.2, CCDS63045.1	2q24.3	2012-12-07	2012-12-07		ENSG00000082438	ENSG00000082438			23571	protein-coding gene	gene with protein product		610318	"COBL-like 1"				Standard	NM_001278458		Approved	KIAA0977	uc002ucp.3	Q53SF7	OTTHUMG00000074019	ENST00000392717.2:c.3501G>A	2.37:g.165548758C>T						COBLL1_ENST00000194871.6_Silent_p.S1196S|COBLL1_ENST00000392717.2_Silent_p.S1167S|COBLL1_ENST00000409184.3_Silent_p.S1129S|COBLL1_ENST00000342193.4_Silent_p.S1129S	p.S1091S	NM_001278460.1|NM_001278461.1	NP_001265389.1|NP_001265390.1	Q53SF7	COBL1_HUMAN			12	3494	-			1167					A6NMZ3|Q6IQ33|Q7Z3I6|Q9BRH4|Q9UG88|Q9Y2I3	Silent	SNP	ENST00000392717.2	37	c.3273G>A																																																																																					0.428	COBLL1-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_014900		5	43	0	0	0	1	0	5	43					T	165548758	C	T	165548758	2	4	435	1	0	0	0	0	0	0	0	1	3654	639	23	2		2	COBLL1	2	165548758	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	144527	165548758	77650615	1326	22251											
COBLL1	22837	broad.mit.edu	37	chr2	165550911	165550911	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgcgctctttactgaaagaCtgtgaccttttcactacagc	9	13	8	11	1	2	3	1	2	1	1	2	3	2	3	1	0	4	1	1	0	3	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:165550911C>A	ENST00000392717.2	-	13	3223	c.3219G>T	c.(3217-3219)caG>caT	p.Q1073H	COBLL1_ENST00000194871.6_Missense_Mutation_p.Q1102H|COBLL1_ENST00000409184.3_Missense_Mutation_p.Q1035H|COBLL1_ENST00000342193.4_Missense_Mutation_p.Q1035H|COBLL1_ENST00000375458.2_Missense_Mutation_p.Q997H			Q53SF7	COBL1_HUMAN	cordon-bleu WH2 repeat protein-like 1	1073						extracellular vesicular exosome (GO:0070062)				central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	47						TACTGAAAGACTGTGACCTTT	0.463																																						ENST00000375458.2																			0				central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	47						c.(2989-2991)caG>caT		cordon-bleu WH2 repeat protein-like 1							117	107	111					2																	165550911		2203	4300	6503	SO:0001583	missense	22837							g.chr2:165550911C>A	AB023194	CCDS2223.2, CCDS63045.1	2q24.3	2012-12-07	2012-12-07		ENSG00000082438	ENSG00000082438			23571	protein-coding gene	gene with protein product		610318	"COBL-like 1"				Standard	NM_001278458		Approved	KIAA0977	uc002ucp.3	Q53SF7	OTTHUMG00000074019	ENST00000392717.2:c.3219G>T	2.37:g.165550911C>A	ENSP00000376478:p.Gln1073His					COBLL1_ENST00000194871.6_Missense_Mutation_p.Q1102H|COBLL1_ENST00000392717.2_Missense_Mutation_p.Q1073H|COBLL1_ENST00000409184.3_Missense_Mutation_p.Q1035H|COBLL1_ENST00000342193.4_Missense_Mutation_p.Q1035H	p.Q997H	NM_001278460.1|NM_001278461.1	NP_001265389.1|NP_001265390.1	Q53SF7	COBL1_HUMAN			11	3212	-			1073					A6NMZ3|Q6IQ33|Q7Z3I6|Q9BRH4|Q9UG88|Q9Y2I3	Missense_Mutation	SNP	ENST00000392717.2	37	c.2991G>T		.	.	.	.	.	.	.	.	.	.	C	18.04	3.535478	0.64972	.	.	ENSG00000082438	ENST00000375458;ENST00000342193;ENST00000409184;ENST00000392717;ENST00000194871	.	.	.	5.95	5.95	0.96441	.	0.000000	0.64402	D	0.000003	T	0.76499	0.3996	M	0.68952	2.095	0.38619	D	0.951092	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.997;0.998;0.999	T	0.78816	-0.2055	9	0.59425	D	0.04	-10.5943	13.021	0.58787	0.0:0.8858:0.0:0.1142	.	1073;1102;1035	Q53SF7;B7Z2P5;Q53SF7-2	COBL1_HUMAN;.;.	H	997;1035;1035;1073;1102	.	ENSP00000194871:Q1102H	Q	-	3	2	COBLL1	165259157	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	1.350000	0.34010	2.824000	0.97209	0.655000	0.94253	CAG		0.463	COBLL1-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_014900		25	31	1	0	4.7796e-09	1	5.06125e-09	25	31					A	165550911	C	A	165550911	3	1	435	1	0	0	0	0	1	0	0	0	3654	564	20	5	407	5	COBLL1	2	165550911	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	2153	165550911	77648462	1327	22252											
SLC38A11	151258	broad.mit.edu	37	chr2	165755097	165755097	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtatttgtaatagccatgacGaatccaaaaaccatcaccac	16	9	5	11	1	1	1	1	1	0	0	2	2	2	1	4	0	2	2	4	0	6	4	rs146184099		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:165755097G>A	ENST00000409149.3	-	11	1362	c.1071C>T	c.(1069-1071)ttC>ttT	p.F357F	RNA5SP111_ENST00000411386.1_RNA|SLC38A11_ENST00000409058.1_Silent_p.F388F|SLC38A11_ENST00000409662.1_Silent_p.F357F|SLC38A11_ENST00000303735.4_Silent_p.F335F	NM_001199148.1	NP_001186077.1	Q08AI6	S38AB_HUMAN	solute carrier family 38, member 11	357					amino acid transport (GO:0006865)|sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)				endometrium(2)|large_intestine(4)|lung(8)|ovary(1)	15						TAGCCATGACGAATCCAAAAA	0.433																																						ENST00000303735.4																			0				endometrium(2)|large_intestine(4)|lung(8)|ovary(1)	15						c.(1003-1005)ttC>ttT		solute carrier family 38, member 11		G	,	1,4405	2.1+/-5.4	0,1,2202	126	111	116		1071,1005	1.6	1	2	dbSNP_134	116	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	SLC38A11	NM_001199148.1,NM_173512.2	,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,	357/407,335/385	165755097	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	151258				amino acid transport|sodium ion transport	integral to membrane		g.chr2:165755097G>A		CCDS2224.1, CCDS56142.1	2q24.3	2013-05-22			ENSG00000169507	ENSG00000169507		"Solute carriers"	26836	protein-coding gene	gene with protein product							Standard	NM_173512		Approved	FLJ39822, AVT2	uc002ucw.2	Q08AI6	OTTHUMG00000132144	ENST00000409149.3:c.1071C>T	2.37:g.165755097G>A						SLC38A11_ENST00000409662.1_Silent_p.F357F|SLC38A11_ENST00000409149.3_Silent_p.F357F|SLC38A11_ENST00000409058.1_Silent_p.F388F	p.F335F	NM_173512.2	NP_775783.1	Q08AI6	S38AB_HUMAN			10	1335	-			357					B4DF99|Q8N887	Silent	SNP	ENST00000409149.3	37	c.1005C>T	CCDS56142.1																																																																																				0.433	SLC38A11-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333390.1	NM_173512		14	25	0	0	0	1	0	14	25					A	165755097	G	A	165755097	2	1	435	1	0	0	0	0	0	0	0	1	14603	1049	37	2		2	SLC38A11	2	165755097	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	204186	165755097	77444276	1328	22253											
SLC38A11	151258	broad.mit.edu	37	chr2	165771691	165771691	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acagataaatacagaaatcaCgatggacatatggataaggc	19	7	9	6	1	1	2	1	0	0	2	1	5	1	4	0	3	1	0	0	3	6	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:165771691C>T	ENST00000409149.3	-	8	904	c.613G>A	c.(613-615)Gtg>Atg	p.V205M	SLC38A11_ENST00000493887.1_5'UTR|SLC38A11_ENST00000409058.1_Missense_Mutation_p.V236M|SLC38A11_ENST00000409662.1_Missense_Mutation_p.V205M|SLC38A11_ENST00000303735.4_Missense_Mutation_p.V183M	NM_001199148.1	NP_001186077.1	Q08AI6	S38AB_HUMAN	solute carrier family 38, member 11	205					amino acid transport (GO:0006865)|sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)		p.V183M(1)		endometrium(2)|large_intestine(4)|lung(8)|ovary(1)	15						ACAGAAATCACGATGGACATA	0.378																																						ENST00000303735.4																			1	Substitution - Missense(1)	p.V183M(1)	large_intestine(1)	endometrium(2)|large_intestine(4)|lung(8)|ovary(1)	15						c.(547-549)Gtg>Atg		solute carrier family 38, member 11							118	113	114					2																	165771691		2203	4300	6503	SO:0001583	missense	151258				amino acid transport|sodium ion transport	integral to membrane		g.chr2:165771691C>T		CCDS2224.1, CCDS56142.1	2q24.3	2013-05-22			ENSG00000169507	ENSG00000169507		"Solute carriers"	26836	protein-coding gene	gene with protein product							Standard	NM_173512		Approved	FLJ39822, AVT2	uc002ucw.2	Q08AI6	OTTHUMG00000132144	ENST00000409149.3:c.613G>A	2.37:g.165771691C>T	ENSP00000386272:p.Val205Met					SLC38A11_ENST00000409662.1_Missense_Mutation_p.V205M|SLC38A11_ENST00000409149.3_Missense_Mutation_p.V205M|SLC38A11_ENST00000409058.1_Missense_Mutation_p.V236M|SLC38A11_ENST00000493887.1_5'UTR	p.V183M	NM_173512.2	NP_775783.1	Q08AI6	S38AB_HUMAN			7	877	-			205					B4DF99|Q8N887	Missense_Mutation	SNP	ENST00000409149.3	37	c.547G>A	CCDS56142.1	.	.	.	.	.	.	.	.	.	.	C	4.346	0.063719	0.08388	.	.	ENSG00000169507	ENST00000303735;ENST00000409149;ENST00000409058;ENST00000409662	T;T;T;T	0.02421	4.3;4.3;4.3;4.3	5.98	-1.09	0.09904	.	0.746306	0.13465	N	0.385839	T	0.01730	0.0055	N	0.11560	0.145	0.09310	N	1	B;B	0.23854	0.092;0.041	B;B	0.22880	0.042;0.025	T	0.46884	-0.9159	10	0.34782	T	0.22	0.4164	8.6632	0.34106	0.5199:0.354:0.1261:0.0	.	205;183	Q08AI6;Q08AI6-2	S38AB_HUMAN;.	M	183;205;236;205	ENSP00000306178:V183M;ENSP00000386272:V205M;ENSP00000387345:V236M;ENSP00000386774:V205M	ENSP00000306178:V183M	V	-	1	0	SLC38A11	165479937	0.419000	0.25449	0.004000	0.12327	0.119000	0.20118	0.942000	0.29017	-0.048000	0.13401	0.655000	0.94253	GTG		0.378	SLC38A11-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333390.1	NM_173512		14	46	0	0	0	1	0	14	46					T	165771691	C	T	165771691	3	4	435	1	0	0	0	0	1	0	0	0	14603	536	19	1	623	1	SLC38A11	2	165771691	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	16594	165771691	77427682	1329	22254											
SCN3A	6328	broad.mit.edu	37	chr2	165947857	165947857	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atctcagccagaaacataccTatggaaaacatagaacacag	19	6	6	10	0	1	2	1	0	1	2	2	3	1	3	2	1	5	0	2	1	7	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:165947857T>C	ENST00000360093.3	-	28	5299		c.e28-2		SCN3A_ENST00000540861.1_Splice_Site|SCN3A_ENST00000283254.7_Splice_Site|SCN3A_ENST00000465043.1_5'Flank|AC013463.2_ENST00000431341.1_RNA|SCN3A_ENST00000409101.3_Splice_Site	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit						membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lacosamide(DB06218)|Valproic Acid(DB00313)|Zonisamide(DB00909)	GAAACATACCTATGGAAAACA	0.378																																						ENST00000360093.3																			0				NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120						c.e28-2		sodium channel, voltage-gated, type III, alpha subunit	Lamotrigine(DB00555)						59	61	61					2																	165947857		2203	4300	6503	SO:0001630	splice_region_variant	6328					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:165947857T>C	AF035685	CCDS33312.1, CCDS46440.1	2q24	2012-02-26	2007-01-23		ENSG00000153253	ENSG00000153253		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10590	protein-coding gene	gene with protein product		182391	"sodium channel, voltage-gated, type III, alpha polypeptide"			9589372, 16382098	Standard	NM_001081676		Approved	Nav1.3	uc002ucx.3	Q9NY46	OTTHUMG00000044171	ENST00000360093.3:c.4808-2A>G	2.37:g.165947857T>C						SCN3A_ENST00000409101.3_Splice_Site|SCN3A_ENST00000283254.7_Splice_Site|SCN3A_ENST00000540861.1_Splice_Site		NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN			28	5299	-								Q16142|Q53SX0|Q9BZB3|Q9C006|Q9NYK2|Q9P2J1|Q9UPD1|Q9Y6P4	Splice_Site	SNP	ENST00000360093.3	37			.	.	.	.	.	.	.	.	.	.	T	15.67	2.901273	0.52227	.	.	ENSG00000153253	ENST00000360093;ENST00000283254;ENST00000409101;ENST00000540861	.	.	.	6.07	6.07	0.98685	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.635	0.85050	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	SCN3A	165656103	1.000000	0.71417	0.977000	0.42913	0.962000	0.63368	7.982000	0.88131	2.330000	0.79161	0.477000	0.44152	.		0.378	SCN3A-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_006922	Intron	20	30	0	0	0	1	0	20	30					C	165947857	T	C	165947857	5	2	435	1	0	0	0	0	0	0	1	0	13918	1536	53	4	1200	4	SCN3A	2	165947857	Splice_Site	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	176166	165947857	77251516	1330	22255											
SCN3A	6328	broad.mit.edu	37	chr2	165984285	165984285	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	taatcattttcatcgattacGtatttttcaacactgcttcc	10	18	3	10	2	3	0	3	0	0	0	5	1	4	0	1	0	3	2	1	0	4	8	rs199850080		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:165984285G>A	ENST00000360093.3	-	18	3740	c.3249C>T	c.(3247-3249)taC>taT	p.Y1083Y	SCN3A_ENST00000283254.7_Silent_p.Y1083Y|SCN3A_ENST00000409101.3_Silent_p.Y1034Y	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	1083					membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lacosamide(DB06218)|Valproic Acid(DB00313)|Zonisamide(DB00909)	CATCGATTACGTATTTTTCAA	0.378													G|||	1	0.000199681	0	0	5008	,	,		18107	0		0.001	False		,,,				2504	0					ENST00000360093.3																			0				NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120						c.(3247-3249)taC>taT		sodium channel, voltage-gated, type III, alpha subunit	Lamotrigine(DB00555)						148	132	137					2																	165984285		2203	4300	6503	SO:0001819	synonymous_variant	6328					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:165984285G>A	AF035685	CCDS33312.1, CCDS46440.1	2q24	2012-02-26	2007-01-23		ENSG00000153253	ENSG00000153253		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10590	protein-coding gene	gene with protein product		182391	"sodium channel, voltage-gated, type III, alpha polypeptide"			9589372, 16382098	Standard	NM_001081676		Approved	Nav1.3	uc002ucx.3	Q9NY46	OTTHUMG00000044171	ENST00000360093.3:c.3249C>T	2.37:g.165984285G>A						SCN3A_ENST00000409101.3_Silent_p.Y1034Y|SCN3A_ENST00000283254.7_Silent_p.Y1083Y	p.Y1083Y	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN			18	3740	-			1083					Q16142|Q53SX0|Q9BZB3|Q9C006|Q9NYK2|Q9P2J1|Q9UPD1|Q9Y6P4	Silent	SNP	ENST00000360093.3	37	c.3249C>T																																																																																					0.378	SCN3A-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_006922		34	35	0	0	0	1	0	34	35					A	165984285	G	A	165984285	2	1	435	1	0	0	0	0	0	0	0	1	13918	1140	40	1		1	SCN3A	2	165984285	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	36428	165984285	77215088	1331	22256											
SCN3A	6328	broad.mit.edu	37	chr2	165986537	165986537	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atacagtcccacatggtctcTatccactctccacacagcac	11	9	4	17	0	2	0	0	0	2	0	6	0	4	0	3	1	2	1	3	1	2	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:165986537T>C	ENST00000360093.3	-	17	3326	c.2835A>G	c.(2833-2835)atA>atG	p.I945M	SCN3A_ENST00000283254.7_Missense_Mutation_p.I945M|SCN3A_ENST00000409101.3_Missense_Mutation_p.I896M	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	945					membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lacosamide(DB06218)|Valproic Acid(DB00313)|Zonisamide(DB00909)	ACATGGTCTCTATCCACTCTC	0.488																																						ENST00000360093.3																			0				NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120						c.(2833-2835)atA>atG		sodium channel, voltage-gated, type III, alpha subunit	Lamotrigine(DB00555)						167	162	164					2																	165986537		2203	4297	6500	SO:0001583	missense	6328					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:165986537T>C	AF035685	CCDS33312.1, CCDS46440.1	2q24	2012-02-26	2007-01-23		ENSG00000153253	ENSG00000153253		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10590	protein-coding gene	gene with protein product		182391	"sodium channel, voltage-gated, type III, alpha polypeptide"			9589372, 16382098	Standard	NM_001081676		Approved	Nav1.3	uc002ucx.3	Q9NY46	OTTHUMG00000044171	ENST00000360093.3:c.2835A>G	2.37:g.165986537T>C	ENSP00000353206:p.Ile945Met					SCN3A_ENST00000409101.3_Missense_Mutation_p.I896M|SCN3A_ENST00000283254.7_Missense_Mutation_p.I945M	p.I945M	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN			17	3326	-			945					Q16142|Q53SX0|Q9BZB3|Q9C006|Q9NYK2|Q9P2J1|Q9UPD1|Q9Y6P4	Missense_Mutation	SNP	ENST00000360093.3	37	c.2835A>G		.	.	.	.	.	.	.	.	.	.	T	18.02	3.529850	0.64860	.	.	ENSG00000153253	ENST00000360093;ENST00000283254;ENST00000409101;ENST00000440431	D;D;D;D	0.97598	-4.45;-4.45;-4.45;-4.45	5.63	3.12	0.35913	Ion transport (1);	0.000000	0.64402	D	0.000002	D	0.97514	0.9186	M	0.66297	2.02	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.997;0.997;0.997;1.0	D;D;D;D;D	0.97110	0.999;0.996;0.994;0.994;1.0	D	0.96370	0.9273	10	0.87932	D	0	.	7.7383	0.28827	0.1313:0.0:0.274:0.5947	.	945;896;896;896;945	Q9NY46;E7EUE6;Q9NY46-2;Q9NY46-4;Q9NY46-3	SCN3A_HUMAN;.;.;.;.	M	945;945;896;896	ENSP00000353206:I945M;ENSP00000283254:I945M;ENSP00000386726:I896M;ENSP00000403348:I896M	ENSP00000283254:I945M	I	-	3	3	SCN3A	165694783	0.989000	0.36119	1.000000	0.80357	0.998000	0.95712	0.114000	0.15520	0.358000	0.24211	0.460000	0.39030	ATA		0.488	SCN3A-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_006922		5	100	0	0	0	1	0	5	100					C	165986537	T	C	165986537	3	2	435	1	0	0	0	0	1	0	0	0	13918	1512	53	4	3215	4	SCN3A	2	165986537	Missense_Mutation	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	2252	165986537	77212836	1332	22257											
SCN3A	6328	broad.mit.edu	37	chr2	166020902	166020902	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaattttcaaagttactcacGccatcacaatgacactgaaa	17	10	4	10	1	3	2	3	2	0	0	3	2	3	2	1	0	1	1	1	0	5	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:166020902G>A	ENST00000360093.3	-	6	1093	c.602C>T	c.(601-603)gCg>gTg	p.A201V	SCN3A_ENST00000283254.7_Splice_Site_p.A201V|SCN3A_ENST00000409101.3_Splice_Site_p.A201V	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	201					membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lacosamide(DB06218)|Valproic Acid(DB00313)|Zonisamide(DB00909)	AGTTACTCACGCCATCACAAT	0.358																																						ENST00000360093.3																			0				NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120						c.e6+1		sodium channel, voltage-gated, type III, alpha subunit	Lamotrigine(DB00555)						66	69	68					2																	166020902		2203	4300	6503	SO:0001630	splice_region_variant	6328					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:166020902G>A	AF035685	CCDS33312.1, CCDS46440.1	2q24	2012-02-26	2007-01-23		ENSG00000153253	ENSG00000153253		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10590	protein-coding gene	gene with protein product		182391	"sodium channel, voltage-gated, type III, alpha polypeptide"			9589372, 16382098	Standard	NM_001081676		Approved	Nav1.3	uc002ucx.3	Q9NY46	OTTHUMG00000044171	ENST00000360093.3:c.602+1C>T	2.37:g.166020902G>A						SCN3A_ENST00000409101.3_Splice_Site_p.A201_splice|SCN3A_ENST00000283254.7_Splice_Site_p.A201_splice	p.A201_splice	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN			6	1093	-			201					Q16142|Q53SX0|Q9BZB3|Q9C006|Q9NYK2|Q9P2J1|Q9UPD1|Q9Y6P4	Splice_Site	SNP	ENST00000360093.3	37	c.602_splice		.	.	.	.	.	.	.	.	.	.	G	35	5.513171	0.96402	.	.	ENSG00000153253	ENST00000360093;ENST00000283254;ENST00000409101;ENST00000440431	D;D;D;D	0.98531	-4.98;-4.98;-4.98;-4.98	5.93	5.93	0.95920	Ion transport (1);	0.000000	0.64402	D	0.000018	D	0.99146	0.9705	M	0.88310	2.945	0.80722	D	1	D;D;D;D;D	0.89917	0.999;1.0;1.0;1.0;0.999	D;D;D;D;D	0.81914	0.995;0.991;0.99;0.98;0.991	D	0.99271	1.0893	9	.	.	.	.	20.3495	0.98807	0.0:0.0:1.0:0.0	.	201;201;201;201;201	Q9NY46;E7EUE6;Q9NY46-2;Q9NY46-4;Q9NY46-3	SCN3A_HUMAN;.;.;.;.	V	201	ENSP00000353206:A201V;ENSP00000283254:A201V;ENSP00000386726:A201V;ENSP00000403348:A201V	.	A	-	2	0	SCN3A	165729148	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.030000	0.88816	2.814000	0.96858	0.591000	0.81541	GCG;GCA;GCG;GCA		0.358	SCN3A-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_006922	Missense_Mutation	11	49	0	0	0	1	0	11	49					A	166020902	G	A	166020902	5	1	435	1	0	0	0	0	0	0	1	0	13918	1101	38	1	5588	1	SCN3A	2	166020902	Splice_Site	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	34365	166020902	77178471	1333	22258											
SCN2A	6326	broad.mit.edu	37	chr2	166166848	166166848	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtaggcctgaagaccattgTgggggccctgatccagtcag	8	9	14	10	0	1	3	1	2	0	1	2	3	2	3	4	3	0	1	4	3	2	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:166166848T>C	ENST00000375437.2	+	7	1003	c.713T>C	c.(712-714)gTg>gCg	p.V238A	SCN2A_ENST00000375427.2_Missense_Mutation_p.V238A|SCN2A_ENST00000283256.6_Missense_Mutation_p.V238A|SCN2A_ENST00000357398.3_Missense_Mutation_p.V238A	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	238					intrinsic apoptotic signaling pathway in response to osmotic stress (GO:0008627)|membrane depolarization during action potential (GO:0086010)|myelination (GO:0042552)|neuron apoptotic process (GO:0051402)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon (GO:0030424)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intrinsic component of plasma membrane (GO:0031226)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|sodium channel complex (GO:0034706)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)|Propofol(DB00818)|Valproic Acid(DB00313)|Zonisamide(DB00909)	AAGACCATTGTGGGGGCCCTG	0.423																																						ENST00000357398.3																			0				NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118						c.(712-714)gTg>gCg		sodium channel, voltage-gated, type II, alpha subunit	Lamotrigine(DB00555)						190	191	191					2																	166166848		2203	4299	6502	SO:0001583	missense	6326				myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:166166848T>C	AB208888	CCDS33313.1, CCDS33314.1	2q24.3	2012-02-26	2007-01-23	2007-01-23	ENSG00000136531	ENSG00000136531		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10588	protein-coding gene	gene with protein product		182390	"sodium channel, voltage-gated, type II, alpha 2 polypeptide", "sodium channel, voltage-gated, type II, alpha 1 polypeptide"	SCN2A1, SCN2A2		1317301, 16382098	Standard	XM_005246753		Approved	Nav1.2, HBSCII, HBSCI	uc002ude.3	Q99250	OTTHUMG00000044172	ENST00000375437.2:c.713T>C	2.37:g.166166848T>C	ENSP00000364586:p.Val238Ala					SCN2A_ENST00000375427.2_Missense_Mutation_p.V238A|SCN2A_ENST00000283256.6_Missense_Mutation_p.V238A|SCN2A_ENST00000375437.2_Missense_Mutation_p.V238A	p.V238A			Q99250	SCN2A_HUMAN			7	1003	+			238					A6NC14|A6NIQ5|Q14472|Q53T77|Q9BZC9|Q9BZD0	Missense_Mutation	SNP	ENST00000375437.2	37	c.713T>C	CCDS33314.1	.	.	.	.	.	.	.	.	.	.	T	18.26	3.584806	0.65992	.	.	ENSG00000136531	ENST00000424833;ENST00000375437;ENST00000357398;ENST00000283256;ENST00000375427	D;D;D;D;D	0.98926	-5.24;-5.24;-5.24;-5.24;-5.24	5.03	5.03	0.67393	Ion transport (1);	0.000000	0.56097	D	0.000022	D	0.99233	0.9733	M	0.90814	3.15	0.58432	D	0.999998	D;D	0.71674	0.998;0.998	D;D	0.85130	0.995;0.997	D	0.99201	1.0873	10	0.87932	D	0	.	15.0437	0.71811	0.0:0.0:0.0:1.0	.	238;238	Q99250-2;Q99250	.;SCN2A_HUMAN	A	238	ENSP00000406454:V238A;ENSP00000364586:V238A;ENSP00000349973:V238A;ENSP00000283256:V238A;ENSP00000364576:V238A	ENSP00000283256:V238A	V	+	2	0	SCN2A	165875094	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.997000	0.88414	2.031000	0.59945	0.455000	0.32223	GTG		0.423	SCN2A-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000102659.2	NM_021007		42	103	0	0	0	1	0	42	103					C	166166848	T	C	166166848	3	2	435	1	0	0	0	0	1	0	0	0	13916	1696	59	4	831	4	SCN2A	2	166166848	Missense_Mutation	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	145946	166166848	77032525	1334	22259											
SCN2A	6326	broad.mit.edu	37	chr2	166231267	166231267	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggtttgtctgatcttttggCtaatattcagtatcatggga	8	18	10	5	0	4	1	2	1	2	0	4	2	4	2	0	3	0	3	0	3	3	7			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:166231267C>T	ENST00000375437.2	+	22	4335	c.4045C>T	c.(4045-4047)Cta>Tta	p.L1349L	SCN2A_ENST00000375427.2_Silent_p.L1349L|SCN2A_ENST00000283256.6_Silent_p.L1349L|SCN2A_ENST00000357398.3_Silent_p.L1349L	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	1349					intrinsic apoptotic signaling pathway in response to osmotic stress (GO:0008627)|membrane depolarization during action potential (GO:0086010)|myelination (GO:0042552)|neuron apoptotic process (GO:0051402)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon (GO:0030424)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intrinsic component of plasma membrane (GO:0031226)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|sodium channel complex (GO:0034706)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)|Propofol(DB00818)|Valproic Acid(DB00313)|Zonisamide(DB00909)	GATCTTTTGGCTAATATTCAG	0.383																																						ENST00000357398.3																			0				NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118						c.(4045-4047)Cta>Tta		sodium channel, voltage-gated, type II, alpha subunit	Lamotrigine(DB00555)						165	156	159					2																	166231267		2203	4300	6503	SO:0001819	synonymous_variant	6326				myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:166231267C>T	AB208888	CCDS33313.1, CCDS33314.1	2q24.3	2012-02-26	2007-01-23	2007-01-23	ENSG00000136531	ENSG00000136531		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10588	protein-coding gene	gene with protein product		182390	"sodium channel, voltage-gated, type II, alpha 2 polypeptide", "sodium channel, voltage-gated, type II, alpha 1 polypeptide"	SCN2A1, SCN2A2		1317301, 16382098	Standard	XM_005246753		Approved	Nav1.2, HBSCII, HBSCI	uc002ude.3	Q99250	OTTHUMG00000044172	ENST00000375437.2:c.4045C>T	2.37:g.166231267C>T						SCN2A_ENST00000375427.2_Silent_p.L1349L|SCN2A_ENST00000283256.6_Silent_p.L1349L|SCN2A_ENST00000375437.2_Silent_p.L1349L	p.L1349L			Q99250	SCN2A_HUMAN			22	4335	+			1349					A6NC14|A6NIQ5|Q14472|Q53T77|Q9BZC9|Q9BZD0	Silent	SNP	ENST00000375437.2	37	c.4045C>T	CCDS33314.1																																																																																				0.383	SCN2A-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000102659.2	NM_021007		34	34	0	0	0	1	0	34	34					T	166231267	C	T	166231267	2	4	435	1	0	0	0	0	0	0	0	1	13916	796	28	3		3	SCN2A	2	166231267	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	64419	166231267	76968106	1335	22260											
SCN2A	6326	broad.mit.edu	37	chr2	166243467	166243467	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	actgatctctcttcgttactActatttcactattggatgga	9	17	6	9	1	3	1	1	1	2	0	5	3	3	3	0	2	2	1	0	2	4	7			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:166243467A>G	ENST00000375437.2	+	26	5053	c.4763A>G	c.(4762-4764)tAc>tGc	p.Y1588C	SCN2A_ENST00000375427.2_Missense_Mutation_p.Y1588C|SCN2A_ENST00000283256.6_Missense_Mutation_p.Y1588C|SCN2A_ENST00000357398.3_Missense_Mutation_p.Y1588C	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	1588					intrinsic apoptotic signaling pathway in response to osmotic stress (GO:0008627)|membrane depolarization during action potential (GO:0086010)|myelination (GO:0042552)|neuron apoptotic process (GO:0051402)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon (GO:0030424)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intrinsic component of plasma membrane (GO:0031226)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|sodium channel complex (GO:0034706)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)|Propofol(DB00818)|Valproic Acid(DB00313)|Zonisamide(DB00909)	CTTCGTTACTACTATTTCACT	0.358																																						ENST00000357398.3																			0				NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118						c.(4762-4764)tAc>tGc		sodium channel, voltage-gated, type II, alpha subunit	Lamotrigine(DB00555)						221	203	209					2																	166243467		2203	4300	6503	SO:0001583	missense	6326				myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:166243467A>G	AB208888	CCDS33313.1, CCDS33314.1	2q24.3	2012-02-26	2007-01-23	2007-01-23	ENSG00000136531	ENSG00000136531		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10588	protein-coding gene	gene with protein product		182390	"sodium channel, voltage-gated, type II, alpha 2 polypeptide", "sodium channel, voltage-gated, type II, alpha 1 polypeptide"	SCN2A1, SCN2A2		1317301, 16382098	Standard	XM_005246753		Approved	Nav1.2, HBSCII, HBSCI	uc002ude.3	Q99250	OTTHUMG00000044172	ENST00000375437.2:c.4763A>G	2.37:g.166243467A>G	ENSP00000364586:p.Tyr1588Cys					SCN2A_ENST00000375427.2_Missense_Mutation_p.Y1588C|SCN2A_ENST00000283256.6_Missense_Mutation_p.Y1588C|SCN2A_ENST00000375437.2_Missense_Mutation_p.Y1588C	p.Y1588C			Q99250	SCN2A_HUMAN			26	5053	+			1588					A6NC14|A6NIQ5|Q14472|Q53T77|Q9BZC9|Q9BZD0	Missense_Mutation	SNP	ENST00000375437.2	37	c.4763A>G	CCDS33314.1	.	.	.	.	.	.	.	.	.	.	A	21.3	4.130683	0.77549	.	.	ENSG00000136531	ENST00000375437;ENST00000357398;ENST00000283256;ENST00000375427	D;D;D;D	0.97430	-4.38;-4.38;-4.38;-4.38	5.17	5.17	0.71159	Ion transport (1);	0.000000	0.64402	D	0.000001	D	0.98760	0.9583	M	0.93283	3.4	0.80722	D	1	D;D	0.89917	1.0;0.997	D;D	0.74348	0.983;0.971	D	0.99748	1.1017	10	0.87932	D	0	.	15.0121	0.71557	1.0:0.0:0.0:0.0	.	1588;1588	Q99250-2;Q99250	.;SCN2A_HUMAN	C	1588	ENSP00000364586:Y1588C;ENSP00000349973:Y1588C;ENSP00000283256:Y1588C;ENSP00000364576:Y1588C	ENSP00000283256:Y1588C	Y	+	2	0	SCN2A	165951713	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.524000	0.81866	1.957000	0.56846	0.528000	0.53228	TAC		0.358	SCN2A-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000102659.2	NM_021007		4	65	0	0	0	1	0	4	65					G	166243467	A	G	166243467	3	3	435	1	0	0	0	0	1	0	0	0	13916	391	14	4	4957	4	SCN2A	2	166243467	Missense_Mutation	SNP	A	TCGA-XK-AAIW-01A-11D-A41K-08	12200	166243467	76955906	1336	22261											
SCN2A	6326	broad.mit.edu	37	chr2	166245293	166245293	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttgatgatgtcccttcctgcGttgtttaacatcggcctcct	5	16	8	12	2	0	2	0	2	0	0	4	2	3	2	4	1	2	2	4	1	1	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:166245293G>A	ENST00000375437.2	+	27	5267	c.4977G>A	c.(4975-4977)gcG>gcA	p.A1659A	SCN2A_ENST00000375427.2_Silent_p.A1659A|SCN2A_ENST00000283256.6_Silent_p.A1659A|SCN2A_ENST00000357398.3_Silent_p.A1659A	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	1659					intrinsic apoptotic signaling pathway in response to osmotic stress (GO:0008627)|membrane depolarization during action potential (GO:0086010)|myelination (GO:0042552)|neuron apoptotic process (GO:0051402)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon (GO:0030424)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intrinsic component of plasma membrane (GO:0031226)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|sodium channel complex (GO:0034706)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)|Propofol(DB00818)|Valproic Acid(DB00313)|Zonisamide(DB00909)	CCCTTCCTGCGTTGTTTAACA	0.493																																						ENST00000357398.3																			0				NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118						c.(4975-4977)gcG>gcA		sodium channel, voltage-gated, type II, alpha subunit	Lamotrigine(DB00555)						138	132	134					2																	166245293		2203	4300	6503	SO:0001819	synonymous_variant	6326				myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:166245293G>A	AB208888	CCDS33313.1, CCDS33314.1	2q24.3	2012-02-26	2007-01-23	2007-01-23	ENSG00000136531	ENSG00000136531		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10588	protein-coding gene	gene with protein product		182390	"sodium channel, voltage-gated, type II, alpha 2 polypeptide", "sodium channel, voltage-gated, type II, alpha 1 polypeptide"	SCN2A1, SCN2A2		1317301, 16382098	Standard	XM_005246753		Approved	Nav1.2, HBSCII, HBSCI	uc002ude.3	Q99250	OTTHUMG00000044172	ENST00000375437.2:c.4977G>A	2.37:g.166245293G>A						SCN2A_ENST00000375427.2_Silent_p.A1659A|SCN2A_ENST00000283256.6_Silent_p.A1659A|SCN2A_ENST00000375437.2_Silent_p.A1659A	p.A1659A			Q99250	SCN2A_HUMAN			27	5267	+			1659					A6NC14|A6NIQ5|Q14472|Q53T77|Q9BZC9|Q9BZD0	Silent	SNP	ENST00000375437.2	37	c.4977G>A	CCDS33314.1																																																																																				0.493	SCN2A-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000102659.2	NM_021007		39	49	0	0	0	1	0	39	49					A	166245293	G	A	166245293	2	1	435	1	0	0	0	0	0	0	0	1	13916	1132	40	1		1	SCN2A	2	166245293	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	1826	166245293	76954080	1337	22262											
GALNT3	2591	broad.mit.edu	37	chr2	166611442	166611442	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aggaacaggaaaatactcacGtatccagatataacaggatt	18	8	8	7	1	1	1	1	0	0	1	2	4	2	4	1	3	3	1	1	3	7	5	rs144331248	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:166611442G>A	ENST00000392701.3	-	8	2299	c.1524C>T	c.(1522-1524)taC>taT	p.Y508Y	GALNT3_ENST00000409882.1_Splice_Site_p.Y246Y	NM_004482.3	NP_004473.2	Q14435	GALT3_HUMAN	polypeptide N-acetylgalactosaminyltransferase 3	508	Ricin B-type lectin. {ECO:0000255|PROSITE-ProRule:PRU00174}.				carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein O-linked glycosylation via serine (GO:0018242)|protein O-linked glycosylation via threonine (GO:0018243)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|manganese ion binding (GO:0030145)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			NS(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|skin(1)	20						AAATACTCACGTATCCAGATA	0.333													A|||	5	0.000998403	0.0038	0	5008	,	,		13971	0		0	False		,,,				2504	0					ENST00000392701.3																			0				NS(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|skin(1)	20						c.e8+1		UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 3 (GalNAc-T3)		A		7,4399	824.4+/-416.5	0,7,2196	73	72	72		1524	5.6	1	2	dbSNP_134	72	0,8596		0,0,4298	yes	coding-synonymous-near-splice	GALNT3	NM_004482.3		0,7,6494	AA,AG,GG		0.0,0.1589,0.0538		508/634	166611442	7,12995	2203	4298	6501	SO:0001630	splice_region_variant	2591				protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine	Golgi cisterna membrane|integral to membrane|membrane fraction|nucleus|perinuclear region of cytoplasm	calcium ion binding|manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr2:166611442G>A		CCDS2226.1	2q24-q31	2014-03-13	2014-03-13		ENSG00000115339	ENSG00000115339	2.4.1.41	"Glycosyltransferase family 2 domain containing"	4125	protein-coding gene	gene with protein product	"polypeptide GalNAc transferase 3"	601756	"UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 3 (GalNAc-T3)"			9592121, 15133511	Standard	NM_004482		Approved	GalNAc-T3, HHS, HFTC	uc010fph.1	Q14435	OTTHUMG00000132157	ENST00000392701.3:c.1524+1C>T	2.37:g.166611442G>A						GALNT3_ENST00000409882.1_Splice_Site_p.Y246_splice	p.Y508_splice	NM_004482.3	NP_004473.2	Q14435	GALT3_HUMAN			8	2299	-			508			Ricin B-type lectin.		Q53TG9|Q7Z476	Splice_Site	SNP	ENST00000392701.3	37	c.1524_splice	CCDS2226.1																																																																																				0.333	GALNT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255205.2	NM_004482	Silent	25	18	0	0	0	1	0	25	18					A	166611442	G	A	166611442	5	1	435	1	0	0	0	0	0	0	1	0	6214	1159	40	1	393	1	GALNT3	2	166611442	Splice_Site	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	366149	166611442	76587931	1338	22263											
GALNT3	2591	broad.mit.edu	37	chr2	166611458	166611458	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcacgtatccagatataacaGgattaaggtctggcacatac	14	10	8	9	1	2	1	1	0	1	1	3	2	3	2	1	3	2	2	1	3	5	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:166611458G>T	ENST00000392701.3	-	8	2283	c.1508C>A	c.(1507-1509)cCt>cAt	p.P503H	GALNT3_ENST00000409882.1_Missense_Mutation_p.P241H	NM_004482.3	NP_004473.2	Q14435	GALT3_HUMAN	polypeptide N-acetylgalactosaminyltransferase 3	503					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein O-linked glycosylation via serine (GO:0018242)|protein O-linked glycosylation via threonine (GO:0018243)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|manganese ion binding (GO:0030145)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			NS(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|skin(1)	20						AGATATAACAGGATTAAGGTC	0.333																																						ENST00000392701.3																			0				NS(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|skin(1)	20						c.(1507-1509)cCt>cAt		UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 3 (GalNAc-T3)							80	78	79					2																	166611458		2203	4298	6501	SO:0001583	missense	2591				protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine	Golgi cisterna membrane|integral to membrane|membrane fraction|nucleus|perinuclear region of cytoplasm	calcium ion binding|manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr2:166611458G>T		CCDS2226.1	2q24-q31	2014-03-13	2014-03-13		ENSG00000115339	ENSG00000115339	2.4.1.41	"Glycosyltransferase family 2 domain containing"	4125	protein-coding gene	gene with protein product	"polypeptide GalNAc transferase 3"	601756	"UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 3 (GalNAc-T3)"			9592121, 15133511	Standard	NM_004482		Approved	GalNAc-T3, HHS, HFTC	uc010fph.1	Q14435	OTTHUMG00000132157	ENST00000392701.3:c.1508C>A	2.37:g.166611458G>T	ENSP00000376465:p.Pro503His					GALNT3_ENST00000409882.1_Missense_Mutation_p.P241H	p.P503H	NM_004482.3	NP_004473.2	Q14435	GALT3_HUMAN			8	2283	-			503					Q53TG9|Q7Z476	Missense_Mutation	SNP	ENST00000392701.3	37	c.1508C>A	CCDS2226.1	.	.	.	.	.	.	.	.	.	.	G	18.54	3.646115	0.67358	.	.	ENSG00000115339	ENST00000392701;ENST00000409882	T;T	0.78595	-1.19;-1.19	5.56	5.56	0.83823	Ricin B-related lectin (1);	0.000000	0.85682	D	0.000000	D	0.88654	0.6495	M	0.85099	2.735	0.80722	D	1	D	0.69078	0.997	D	0.63381	0.914	D	0.88163	0.2859	10	0.41790	T	0.15	.	19.5169	0.95169	0.0:0.0:1.0:0.0	.	503	Q14435	GALT3_HUMAN	H	503;241	ENSP00000376465:P503H;ENSP00000386955:P241H	ENSP00000376465:P503H	P	-	2	0	GALNT3	166319704	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.708000	0.84633	2.631000	0.89168	0.655000	0.94253	CCT		0.333	GALNT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255205.2	NM_004482		9	41	1	0	0.00829132	1	0.00837884	9	41					T	166611458	G	T	166611458	3	4	435	1	0	0	0	0	1	0	0	0	6214	1000	35	5	409	5	GALNT3	2	166611458	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	16	166611458	76587915	1339	22264											
GALNT3	2591	broad.mit.edu	37	chr2	166613680	166613680	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgagtgccttttggaaagctAtgagggcttttgctgcgaaa	9	13	13	6	1	0	2	0	2	0	0	0	4	0	3	1	2	4	3	1	2	3	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:166613680A>G	ENST00000392701.3	-	7	2044	c.1269T>C	c.(1267-1269)caT>caC	p.H423H	GALNT3_ENST00000409882.1_Silent_p.H161H	NM_004482.3	NP_004473.2	Q14435	GALT3_HUMAN	polypeptide N-acetylgalactosaminyltransferase 3	423					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein O-linked glycosylation via serine (GO:0018242)|protein O-linked glycosylation via threonine (GO:0018243)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|manganese ion binding (GO:0030145)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			NS(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|skin(1)	20						TTGGAAAGCTATGAGGGCTTT	0.403																																						ENST00000392701.3																			0				NS(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|skin(1)	20						c.(1267-1269)caT>caC		UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 3 (GalNAc-T3)							107	101	103					2																	166613680		2203	4300	6503	SO:0001819	synonymous_variant	2591				protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine	Golgi cisterna membrane|integral to membrane|membrane fraction|nucleus|perinuclear region of cytoplasm	calcium ion binding|manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr2:166613680A>G		CCDS2226.1	2q24-q31	2014-03-13	2014-03-13		ENSG00000115339	ENSG00000115339	2.4.1.41	"Glycosyltransferase family 2 domain containing"	4125	protein-coding gene	gene with protein product	"polypeptide GalNAc transferase 3"	601756	"UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 3 (GalNAc-T3)"			9592121, 15133511	Standard	NM_004482		Approved	GalNAc-T3, HHS, HFTC	uc010fph.1	Q14435	OTTHUMG00000132157	ENST00000392701.3:c.1269T>C	2.37:g.166613680A>G						GALNT3_ENST00000409882.1_Silent_p.H161H	p.H423H	NM_004482.3	NP_004473.2	Q14435	GALT3_HUMAN			7	2044	-			423					Q53TG9|Q7Z476	Silent	SNP	ENST00000392701.3	37	c.1269T>C	CCDS2226.1																																																																																				0.403	GALNT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255205.2	NM_004482		31	37	0	0	0	1	0	31	37					G	166613680	A	G	166613680	2	3	435	1	0	0	0	0	0	0	0	1	6214	446	16	4		4	GALNT3	2	166613680	Silent	SNP	A	TCGA-XK-AAIW-01A-11D-A41K-08	2222	166613680	76585693	1340	22265											
TTC21B	79809	broad.mit.edu	37	chr2	166785667	166785667	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gcattggacagaagctcagaTactccataacaatttctaac	15	10	6	10	0	2	2	1	0	1	2	3	3	3	3	1	1	4	2	1	1	5	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:166785667T>C	ENST00000243344.7	-	11	1501	c.1364A>G	c.(1363-1365)tAt>tGt	p.Y455C		NM_024753.4	NP_079029.3	Q7Z4L5	TT21B_HUMAN	tetratricopeptide repeat domain 21B	455					forebrain dorsal/ventral pattern formation (GO:0021798)|intraciliary retrograde transport (GO:0035721)|intraciliary transport involved in cilium morphogenesis (GO:0035735)|protein localization to cilium (GO:0061512)|regulation of smoothened signaling pathway (GO:0008589)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|smoothened signaling pathway (GO:0007224)|ventricular system development (GO:0021591)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|intraciliary transport particle A (GO:0030991)|nuclear chromatin (GO:0000790)				breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(9)|lung(28)|ovary(2)|pancreas(2)|skin(2)|urinary_tract(1)	58						GAAGCTCAGATACTCCATAAC	0.348																																						ENST00000243344.7																			0				breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(9)|lung(28)|ovary(2)|pancreas(2)|skin(2)|urinary_tract(1)	58						c.(1363-1365)tAt>tGt		tetratricopeptide repeat domain 21B							53	55	54					2																	166785667		2202	4298	6500	SO:0001583	missense	79809					cilium axoneme|cytoplasm|cytoskeleton	binding	g.chr2:166785667T>C	AB082523	CCDS33315.1	2q24.3	2014-09-04			ENSG00000123607	ENSG00000123607		"Tetratricopeptide (TTC) repeat domain containing", "Intraflagellar transport homologs"	25660	protein-coding gene	gene with protein product		612014				12056414, 21258341	Standard	NM_024753		Approved	FLJ11457, JBTS11, NPHP12, IFT139, THM1	uc002udk.3	Q7Z4L5	OTTHUMG00000154083	ENST00000243344.7:c.1364A>G	2.37:g.166785667T>C	ENSP00000243344:p.Tyr455Cys						p.Y455C	NM_024753.4	NP_079029.3	Q7Z4L5	TT21B_HUMAN			11	1501	-			455					A8MUZ3|Q3LIE4|Q53T84|Q6P4A1|Q6PIF5|Q8NCN3|Q96MA4|Q9HAK8	Missense_Mutation	SNP	ENST00000243344.7	37	c.1364A>G	CCDS33315.1	.	.	.	.	.	.	.	.	.	.	t	17.22	3.334823	0.60853	.	.	ENSG00000123607	ENST00000243344	T	0.64991	-0.13	5.38	5.38	0.77491	.	0.000000	0.85682	D	0.000000	T	0.80358	0.4608	M	0.82323	2.585	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.80764	0.994;0.962	T	0.82394	-0.0479	10	0.51188	T	0.08	-16.1314	15.6905	0.77446	0.0:0.0:0.0:1.0	.	455;455	Q7Z4L5-2;Q7Z4L5	.;TT21B_HUMAN	C	455	ENSP00000243344:Y455C	ENSP00000243344:Y455C	Y	-	2	0	TTC21B	166493913	1.000000	0.71417	1.000000	0.80357	0.231000	0.25187	7.694000	0.84235	2.170000	0.68504	0.529000	0.55759	TAT		0.348	TTC21B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333770.1	NM_024753		16	18	0	0	0	1	0	16	18					C	166785667	T	C	166785667	3	2	435	1	0	0	0	0	1	0	0	0	16685	1406	49	4	2662	4	TTC21B	2	166785667	Missense_Mutation	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	171987	166785667	76413706	1341	22266											
TTC21B	79809	broad.mit.edu	37	chr2	166786784	166786784	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aatcatttggtatccaagttCtgtagcaaattctgattgct	11	16	7	7	0	3	1	1	1	2	0	4	1	4	1	1	1	2	5	1	1	5	6			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:166786784C>T	ENST00000243344.7	-	9	1122	c.985G>A	c.(985-987)Gaa>Aaa	p.E329K		NM_024753.4	NP_079029.3	Q7Z4L5	TT21B_HUMAN	tetratricopeptide repeat domain 21B	329					forebrain dorsal/ventral pattern formation (GO:0021798)|intraciliary retrograde transport (GO:0035721)|intraciliary transport involved in cilium morphogenesis (GO:0035735)|protein localization to cilium (GO:0061512)|regulation of smoothened signaling pathway (GO:0008589)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|smoothened signaling pathway (GO:0007224)|ventricular system development (GO:0021591)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|intraciliary transport particle A (GO:0030991)|nuclear chromatin (GO:0000790)				breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(9)|lung(28)|ovary(2)|pancreas(2)|skin(2)|urinary_tract(1)	58						TATCCAAGTTCTGTAGCAAAT	0.378																																						ENST00000243344.7																			0				breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(9)|lung(28)|ovary(2)|pancreas(2)|skin(2)|urinary_tract(1)	58						c.(985-987)Gaa>Aaa		tetratricopeptide repeat domain 21B							114	115	115					2																	166786784		2203	4300	6503	SO:0001583	missense	79809					cilium axoneme|cytoplasm|cytoskeleton	binding	g.chr2:166786784C>T	AB082523	CCDS33315.1	2q24.3	2014-09-04			ENSG00000123607	ENSG00000123607		"Tetratricopeptide (TTC) repeat domain containing", "Intraflagellar transport homologs"	25660	protein-coding gene	gene with protein product		612014				12056414, 21258341	Standard	NM_024753		Approved	FLJ11457, JBTS11, NPHP12, IFT139, THM1	uc002udk.3	Q7Z4L5	OTTHUMG00000154083	ENST00000243344.7:c.985G>A	2.37:g.166786784C>T	ENSP00000243344:p.Glu329Lys						p.E329K	NM_024753.4	NP_079029.3	Q7Z4L5	TT21B_HUMAN			9	1122	-			329					A8MUZ3|Q3LIE4|Q53T84|Q6P4A1|Q6PIF5|Q8NCN3|Q96MA4|Q9HAK8	Missense_Mutation	SNP	ENST00000243344.7	37	c.985G>A	CCDS33315.1	.	.	.	.	.	.	.	.	.	.	C	35	5.519338	0.96416	.	.	ENSG00000123607	ENST00000243344	T	0.50548	0.74	5.06	5.06	0.68205	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.85682	D	0.000000	T	0.74137	0.3677	M	0.88640	2.97	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.76266	-0.3022	10	0.38643	T	0.18	-23.7546	18.7961	0.91994	0.0:1.0:0.0:0.0	.	329;329	Q7Z4L5-2;Q7Z4L5	.;TT21B_HUMAN	K	329	ENSP00000243344:E329K	ENSP00000243344:E329K	E	-	1	0	TTC21B	166495030	1.000000	0.71417	0.991000	0.47740	0.964000	0.63967	7.547000	0.82146	2.510000	0.84645	0.650000	0.86243	GAA		0.378	TTC21B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333770.1	NM_024753		28	37	0	0	0	1	0	28	37					T	166786784	C	T	166786784	3	4	435	1	0	0	0	0	1	0	0	0	16685	922	32	3	3049	3	TTC21B	2	166786784	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	1117	166786784	76412589	1342	22267											
TTC21B	79809	broad.mit.edu	37	chr2	166797631	166797631	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaggaagctcggaaaattcaCgattatctggttcacagtct	13	11	9	8	2	4	0	2	0	2	0	5	3	4	2	0	3	1	2	0	3	5	3	rs370956667		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:166797631C>T	ENST00000243344.7	-	6	753	c.616G>A	c.(616-618)Gtg>Atg	p.V206M	AC010127.5_ENST00000443032.1_RNA|AC010127.5_ENST00000440322.1_RNA	NM_024753.4	NP_079029.3	Q7Z4L5	TT21B_HUMAN	tetratricopeptide repeat domain 21B	206					forebrain dorsal/ventral pattern formation (GO:0021798)|intraciliary retrograde transport (GO:0035721)|intraciliary transport involved in cilium morphogenesis (GO:0035735)|protein localization to cilium (GO:0061512)|regulation of smoothened signaling pathway (GO:0008589)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|smoothened signaling pathway (GO:0007224)|ventricular system development (GO:0021591)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|intraciliary transport particle A (GO:0030991)|nuclear chromatin (GO:0000790)				breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(9)|lung(28)|ovary(2)|pancreas(2)|skin(2)|urinary_tract(1)	58						GGAAAATTCACGATTATCTGG	0.428																																						ENST00000243344.7																			0				breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(9)|lung(28)|ovary(2)|pancreas(2)|skin(2)|urinary_tract(1)	58						c.(616-618)Gtg>Atg		tetratricopeptide repeat domain 21B		C	MET/VAL	0,4406		0,0,2203	101	98	99		616	0.2	0.2	2		99	1,8599	1.2+/-3.3	0,1,4299	no	missense	TTC21B	NM_024753.3	21	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	206/1317	166797631	1,13005	2203	4300	6503	SO:0001583	missense	79809					cilium axoneme|cytoplasm|cytoskeleton	binding	g.chr2:166797631C>T	AB082523	CCDS33315.1	2q24.3	2014-09-04			ENSG00000123607	ENSG00000123607		"Tetratricopeptide (TTC) repeat domain containing", "Intraflagellar transport homologs"	25660	protein-coding gene	gene with protein product		612014				12056414, 21258341	Standard	NM_024753		Approved	FLJ11457, JBTS11, NPHP12, IFT139, THM1	uc002udk.3	Q7Z4L5	OTTHUMG00000154083	ENST00000243344.7:c.616G>A	2.37:g.166797631C>T	ENSP00000243344:p.Val206Met					AC010127.5_ENST00000440322.1_RNA|AC010127.5_ENST00000443032.1_RNA	p.V206M	NM_024753.4	NP_079029.3	Q7Z4L5	TT21B_HUMAN			6	753	-			206					A8MUZ3|Q3LIE4|Q53T84|Q6P4A1|Q6PIF5|Q8NCN3|Q96MA4|Q9HAK8	Missense_Mutation	SNP	ENST00000243344.7	37	c.616G>A	CCDS33315.1	.	.	.	.	.	.	.	.	.	.	C	17.07	3.294703	0.60086	0.0	1.16E-4	ENSG00000123607	ENST00000243344	T	0.63255	-0.03	5.38	0.182	0.15077	Tetratricopeptide-like helical (1);	0.304109	0.34652	N	0.003790	T	0.57315	0.2045	M	0.83118	2.625	0.80722	D	1	P;P	0.40000	0.698;0.532	B;B	0.36134	0.168;0.218	T	0.54964	-0.8214	10	0.51188	T	0.08	-4.0321	7.0249	0.24934	0.0:0.6291:0.1142:0.2566	.	206;206	Q7Z4L5-2;Q7Z4L5	.;TT21B_HUMAN	M	206	ENSP00000243344:V206M	ENSP00000243344:V206M	V	-	1	0	TTC21B	166505877	0.912000	0.30974	0.223000	0.23860	0.800000	0.45204	2.088000	0.41663	0.041000	0.15688	0.650000	0.86243	GTG		0.428	TTC21B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333770.1	NM_024753		18	33	0	0	0	1	0	18	33					T	166797631	C	T	166797631	3	4	435	1	0	0	0	0	1	0	0	0	16685	536	19	1	3430	1	TTC21B	2	166797631	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	10847	166797631	76401742	1343	22268											
SCN1A	6323	broad.mit.edu	37	chr2	166848823	166848823	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aagagcagcgtgcggatcccCtttgctcctttgatcagacg	8	10	11	12	3	1	3	1	1	0	2	3	4	3	4	3	1	4	2	3	1	1	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:166848823C>A	ENST00000303395.4	-	26	4961	c.4962G>T	c.(4960-4962)aaG>aaT	p.K1654N	SCN1A_ENST00000423058.2_Missense_Mutation_p.K1654N|SCN1A_ENST00000409050.1_Missense_Mutation_p.K1626N|AC010127.3_ENST00000595647.1_RNA|AC010127.3_ENST00000597623.1_RNA|SCN1A_ENST00000375405.3_Missense_Mutation_p.K1643N			P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	1654					adult walking behavior (GO:0007628)|membrane depolarization during action potential (GO:0086010)|neuromuscular process controlling posture (GO:0050884)|neuronal action potential (GO:0019228)|neuronal action potential propagation (GO:0019227)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon initial segment (GO:0043194)|intercalated disc (GO:0014704)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)|Z disc (GO:0030018)	voltage-gated sodium channel activity (GO:0005248)			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Dronedarone(DB04855)|Nitrazepam(DB01595)|Permethrin(DB04930)|Phenacemide(DB01121)|Phenazopyridine(DB01438)|Phenytoin(DB00252)|Topiramate(DB00273)|Valproic Acid(DB00313)|Zonisamide(DB00909)	TGCGGATCCCCTTTGCTCCTT	0.498																																						ENST00000423058.2																			0				NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200						c.(4960-4962)aaG>aaT		sodium channel, voltage-gated, type I, alpha subunit	Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)						113	111	111					2																	166848823		2203	4300	6503	SO:0001583	missense	6323					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:166848823C>A	AB093548	CCDS33316.1, CCDS54413.1, CCDS54414.1	2q24.3	2014-09-17	2007-01-23		ENSG00000144285	ENSG00000144285		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10585	protein-coding gene	gene with protein product		182389	"febrile convulsions 3"	SCN1, FEB3		8062593, 16382098, 11823106	Standard	NM_006920		Approved	Nav1.1, GEFSP2, HBSCI, NAC1, SMEI	uc021vsb.1	P35498	OTTHUMG00000044173	ENST00000303395.4:c.4962G>T	2.37:g.166848823C>A	ENSP00000303540:p.Lys1654Asn					SCN1A_ENST00000375405.3_Missense_Mutation_p.K1643N|AC010127.3_ENST00000597623.1_RNA|AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000303395.4_Missense_Mutation_p.K1654N|SCN1A_ENST00000409050.1_Missense_Mutation_p.K1626N	p.K1654N	NM_001165963.1|NM_001202435.1	NP_001159435.1|NP_001189364.1	P35498	SCN1A_HUMAN			26	4979	-			1654					E9PG49|Q16172|Q585T7|Q8IUJ6|Q96LA3|Q9C008	Missense_Mutation	SNP	ENST00000303395.4	37	c.4962G>T	CCDS54413.1	.	.	.	.	.	.	.	.	.	.	C	16.68	3.189905	0.57909	.	.	ENSG00000144285	ENST00000423058;ENST00000303395;ENST00000375405;ENST00000409050	D;D;D;D	0.98617	-5.03;-5.03;-5.03;-5.03	5.27	2.54	0.30619	.	0.000000	0.64402	D	0.000006	D	0.99086	0.9686	M	0.90922	3.16	0.51233	D	0.999912	D	0.89917	1.0	D	0.79108	0.992	D	0.99239	1.0884	10	0.87932	D	0	.	9.6158	0.39690	0.0:0.7229:0.0:0.2771	.	1643	P35498-2	.	N	1654;1654;1643;1626	ENSP00000407030:K1654N;ENSP00000303540:K1654N;ENSP00000364554:K1643N;ENSP00000386312:K1626N	ENSP00000303540:K1654N	K	-	3	2	SCN1A	166557069	1.000000	0.71417	0.979000	0.43373	0.987000	0.75469	0.671000	0.25172	0.237000	0.21200	-0.808000	0.03180	AAG		0.498	SCN1A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102661.1	NM_006920		33	51	1	0	2.80507e-11	1	3.01652e-11	33	51					A	166848823	C	A	166848823	3	1	435	1	0	0	0	0	1	0	0	0	13914	680	24	5	1071	5	SCN1A	2	166848823	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	51192	166848823	76350550	1344	22269											
SCN9A	6335	broad.mit.edu	37	chr2	167129367	167129367	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aaatgagctcaataataaggCcagaaataggtttaggacct	17	9	9	6	0	1	2	1	1	0	1	1	3	1	3	2	3	1	2	2	3	7	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:167129367C>T	ENST00000409435.1	-	16	2892	c.2893G>A	c.(2893-2895)Gcc>Acc	p.A965T	AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000303354.6_Missense_Mutation_p.A966T|SCN9A_ENST00000375387.4_Missense_Mutation_p.A966T|SCN9A_ENST00000409672.1_Missense_Mutation_p.A954T			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	965					behavioral response to pain (GO:0048266)|inflammatory response (GO:0006954)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|post-embryonic development (GO:0009791)|response to toxic substance (GO:0009636)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	sodium ion binding (GO:0031402)|voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lacosamide(DB06218)|Lidocaine(DB00281)|Ranolazine(DB00243)|Rufinamide(DB06201)|Valproic Acid(DB00313)|Zonisamide(DB00909)	AATAATAAGGCCAGAAATAGG	0.378																																						ENST00000303354.6																			0				NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108						c.(2896-2898)Gcc>Acc		sodium channel, voltage-gated, type IX, alpha subunit	Lamotrigine(DB00555)|Lidocaine(DB00281)						31	29	29					2																	167129367		1826	4087	5913	SO:0001583	missense	6335					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:167129367C>T	X82835	CCDS46441.1	2q24	2014-09-17	2007-01-23		ENSG00000169432	ENSG00000169432		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10597	protein-coding gene	gene with protein product		603415	"sodium channel, voltage-gated, type IX, alpha polypeptide"			7720699, 10198179, 16382098	Standard	NM_002977		Approved	Nav1.7, PN1, NE-NA, NENA, ETHA	uc010fpl.3	Q15858	OTTHUMG00000154044	ENST00000409435.1:c.2893G>A	2.37:g.167129367C>T	ENSP00000386330:p.Ala965Thr					AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000409672.1_Missense_Mutation_p.A954T|SCN9A_ENST00000375387.4_Missense_Mutation_p.A966T|SCN9A_ENST00000409435.1_Missense_Mutation_p.A965T	p.A966T			Q15858	SCN9A_HUMAN			17	3236	-			965					A1BUH5|Q6B4R9|Q6B4S0|Q6B4S1|Q70HX1|Q70HX2|Q8WTU1|Q8WWN4	Missense_Mutation	SNP	ENST00000409435.1	37	c.2896G>A	CCDS46441.1	.	.	.	.	.	.	.	.	.	.	C	33	5.250416	0.95305	.	.	ENSG00000169432	ENST00000409672;ENST00000375387;ENST00000303354;ENST00000409435	D;D;D;D	0.99239	-5.61;-5.61;-5.61;-5.61	5.54	5.54	0.83059	.	0.000000	0.64402	D	0.000010	D	0.99664	0.9875	H	0.96889	3.9	0.80722	D	1	D	0.89917	1.0	D	0.75020	0.985	D	0.97695	1.0181	10	0.87932	D	0	.	19.8379	0.96666	0.0:1.0:0.0:0.0	.	954	E7EUN6	.	T	954;966;966;965	ENSP00000386306:A954T;ENSP00000364536:A966T;ENSP00000304748:A966T;ENSP00000386330:A965T	ENSP00000304748:A966T	A	-	1	0	SCN9A	166837613	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.818000	0.86416	2.765000	0.95021	0.655000	0.94253	GCC		0.378	SCN9A-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333639.1	NM_002977		7	10	0	0	0	1	0	7	10					T	167129367	C	T	167129367	3	4	435	1	0	0	0	0	1	0	0	0	13925	739	26	3	3117	3	SCN9A	2	167129367	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	280544	167129367	76070006	1345	22270											
SCN9A	6335	broad.mit.edu	37	chr2	167133597	167133597	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctctatccactctccacacaGcacgcggaacacaatcagga	13	6	6	16	2	3	0	1	0	2	0	5	2	4	2	2	2	2	1	2	2	3	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:167133597G>T	ENST00000409435.1	-	15	2769	c.2770C>A	c.(2770-2772)Ctg>Atg	p.L924M	AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000303354.6_Missense_Mutation_p.L925M|SCN9A_ENST00000375387.4_Missense_Mutation_p.L925M|SCN9A_ENST00000409672.1_Missense_Mutation_p.L913M			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	924					behavioral response to pain (GO:0048266)|inflammatory response (GO:0006954)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|post-embryonic development (GO:0009791)|response to toxic substance (GO:0009636)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	sodium ion binding (GO:0031402)|voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lacosamide(DB06218)|Lidocaine(DB00281)|Ranolazine(DB00243)|Rufinamide(DB06201)|Valproic Acid(DB00313)|Zonisamide(DB00909)	TCTCCACACAGCACGCGGAAC	0.488																																						ENST00000303354.6																			0				NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108						c.(2773-2775)Ctg>Atg		sodium channel, voltage-gated, type IX, alpha subunit	Lamotrigine(DB00555)|Lidocaine(DB00281)						200	191	194					2																	167133597		2203	4297	6500	SO:0001583	missense	6335					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:167133597G>T	X82835	CCDS46441.1	2q24	2014-09-17	2007-01-23		ENSG00000169432	ENSG00000169432		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10597	protein-coding gene	gene with protein product		603415	"sodium channel, voltage-gated, type IX, alpha polypeptide"			7720699, 10198179, 16382098	Standard	NM_002977		Approved	Nav1.7, PN1, NE-NA, NENA, ETHA	uc010fpl.3	Q15858	OTTHUMG00000154044	ENST00000409435.1:c.2770C>A	2.37:g.167133597G>T	ENSP00000386330:p.Leu924Met					AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000409672.1_Missense_Mutation_p.L913M|SCN9A_ENST00000375387.4_Missense_Mutation_p.L925M|SCN9A_ENST00000409435.1_Missense_Mutation_p.L924M	p.L925M			Q15858	SCN9A_HUMAN			16	3113	-			924					A1BUH5|Q6B4R9|Q6B4S0|Q6B4S1|Q70HX1|Q70HX2|Q8WTU1|Q8WWN4	Missense_Mutation	SNP	ENST00000409435.1	37	c.2773C>A	CCDS46441.1	.	.	.	.	.	.	.	.	.	.	G	20.5	3.995038	0.74703	.	.	ENSG00000169432	ENST00000409672;ENST00000375387;ENST00000303354;ENST00000409435	D;D;D;D	0.98313	-4.86;-4.86;-4.86;-4.86	5.65	4.78	0.61160	.	0.000000	0.51477	D	0.000096	D	0.98397	0.9467	M	0.64404	1.975	0.47819	D	0.99952	D	0.89917	1.0	D	0.97110	1.0	D	0.99104	1.0844	10	0.87932	D	0	.	10.9606	0.47383	0.1436:0.0:0.8564:0.0	.	913	E7EUN6	.	M	913;925;925;924	ENSP00000386306:L913M;ENSP00000364536:L925M;ENSP00000304748:L925M;ENSP00000386330:L924M	ENSP00000304748:L925M	L	-	1	2	SCN9A	166841843	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.862000	0.48388	1.516000	0.48900	0.650000	0.86243	CTG		0.488	SCN9A-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333639.1	NM_002977		5	118	1	0	0.000602214	1	0.000612743	5	118					T	167133597	G	T	167133597	3	4	435	1	0	0	0	0	1	0	0	0	13925	962	34	5	3244	5	SCN9A	2	167133597	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	4230	167133597	76065776	1346	22271											
SCN9A	6335	broad.mit.edu	37	chr2	167141099	167141099	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgtgcattttcccgttcaccGgcagcattggtggggaccta	6	12	12	11	2	1	0	1	0	0	0	2	1	2	1	3	4	2	4	3	4	1	5	rs200671761	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:167141099G>A	ENST00000409435.1	-	11	1837	c.1838C>T	c.(1837-1839)cCg>cTg	p.P613L	AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000303354.6_Missense_Mutation_p.P614L|SCN9A_ENST00000375387.4_Missense_Mutation_p.P614L|SCN9A_ENST00000409672.1_Missense_Mutation_p.P613L			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	613					behavioral response to pain (GO:0048266)|inflammatory response (GO:0006954)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|post-embryonic development (GO:0009791)|response to toxic substance (GO:0009636)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	sodium ion binding (GO:0031402)|voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lacosamide(DB06218)|Lidocaine(DB00281)|Ranolazine(DB00243)|Rufinamide(DB06201)|Valproic Acid(DB00313)|Zonisamide(DB00909)	CCCGTTCACCGGCAGCATTGG	0.587													G|||	10	0.00199681	0	0	5008	,	,		18479	0		0	False		,,,				2504	0.0102					ENST00000303354.6																			0				NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108						c.(1840-1842)cCg>cTg		sodium channel, voltage-gated, type IX, alpha subunit	Lamotrigine(DB00555)|Lidocaine(DB00281)						89	94	93					2																	167141099		2173	4281	6454	SO:0001583	missense	6335					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:167141099G>A	X82835	CCDS46441.1	2q24	2014-09-17	2007-01-23		ENSG00000169432	ENSG00000169432		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10597	protein-coding gene	gene with protein product		603415	"sodium channel, voltage-gated, type IX, alpha polypeptide"			7720699, 10198179, 16382098	Standard	NM_002977		Approved	Nav1.7, PN1, NE-NA, NENA, ETHA	uc010fpl.3	Q15858	OTTHUMG00000154044	ENST00000409435.1:c.1838C>T	2.37:g.167141099G>A	ENSP00000386330:p.Pro613Leu					AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000409672.1_Missense_Mutation_p.P613L|SCN9A_ENST00000375387.4_Missense_Mutation_p.P614L|SCN9A_ENST00000409435.1_Missense_Mutation_p.P613L	p.P614L			Q15858	SCN9A_HUMAN			12	2181	-			613					A1BUH5|Q6B4R9|Q6B4S0|Q6B4S1|Q70HX1|Q70HX2|Q8WTU1|Q8WWN4	Missense_Mutation	SNP	ENST00000409435.1	37	c.1841C>T	CCDS46441.1	.	.	.	.	.	.	.	.	.	.	G	13.93	2.384587	0.42308	.	.	ENSG00000169432	ENST00000409672;ENST00000375387;ENST00000303354;ENST00000409435;ENST00000454569;ENST00000452182	D;D;D;D;D;D	0.91068	-2.78;-2.78;-2.78;-2.78;-2.78;-2.78	5.64	3.81	0.43845	Domain of unknown function DUF3451 (1);	2.459460	0.01511	N	0.017916	D	0.92001	0.7466	M	0.76433	2.335	0.80722	D	1	B;B;B	0.11235	0.004;0.002;0.001	B;B;B	0.19946	0.027;0.009;0.011	T	0.71069	-0.4699	10	0.46703	T	0.11	.	13.3159	0.60407	0.0:0.1214:0.7522:0.1264	.	613;613;614	E7EUN6;Q15858;E9PF08	.;SCN9A_HUMAN;.	L	613;614;614;613;478;478	ENSP00000386306:P613L;ENSP00000364536:P614L;ENSP00000304748:P614L;ENSP00000386330:P613L;ENSP00000413212:P478L;ENSP00000393141:P478L	ENSP00000304748:P614L	P	-	2	0	SCN9A	166849345	1.000000	0.71417	0.965000	0.40720	0.430000	0.31655	4.264000	0.58859	0.817000	0.34445	0.557000	0.71058	CCG		0.587	SCN9A-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333639.1	NM_002977		26	39	0	0	0	1	0	26	39					A	167141099	G	A	167141099	3	1	435	1	0	0	0	0	1	0	0	0	13925	1116	39	2	4159	2	SCN9A	2	167141099	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	7502	167141099	76058274	1347	22272											
SCN7A	6332	broad.mit.edu	37	chr2	167262766	167262766	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctcctctaacttgagtcccaGggttaattttatcaggatca	10	14	7	10	0	3	1	2	1	1	0	5	2	5	2	2	2	1	1	2	2	3	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:167262766G>T	ENST00000409855.1	-	25	4499	c.4373C>A	c.(4372-4374)cCt>cAt	p.P1458H		NM_002976.3	NP_002967.2	Q01118	SCN7A_HUMAN	sodium channel, voltage-gated, type VII, alpha subunit	1458					membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|neuronal action potential (GO:0019228)|sodium ion homeostasis (GO:0055078)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	glial cell projection (GO:0097386)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44					Valproic Acid(DB00313)	TTGAGTCCCAGGGTTAATTTT	0.383																																						ENST00000409855.1																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44						c.(4372-4374)cCt>cAt		sodium channel, voltage-gated, type VII, alpha subunit							89	86	87					2																	167262766		1850	4140	5990	SO:0001583	missense	6332				muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:167262766G>T	M91556	CCDS46442.1	2q21-q23	2012-03-05	2012-02-28	2002-06-14	ENSG00000136546	ENSG00000136546		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10594	protein-coding gene	gene with protein product		182392	"sodium channel, voltage-gated, type VI, alpha", "sodium channel, voltage-gated, type VII, alpha"	SCN6A		10198179	Standard	NM_002976		Approved	Nav2.1, Nav2.2, NaG	uc002udu.2	Q01118	OTTHUMG00000154078	ENST00000409855.1:c.4373C>A	2.37:g.167262766G>T	ENSP00000386796:p.Pro1458His						p.P1458H	NM_002976.3	NP_002967.2	Q01118	SCN7A_HUMAN			25	4499	-			1458						Missense_Mutation	SNP	ENST00000409855.1	37	c.4373C>A	CCDS46442.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.145902	0.77888	.	.	ENSG00000136546	ENST00000409855;ENST00000259060	D	0.96967	-4.19	4.89	4.89	0.63831	Ion transport (1);	0.000000	0.56097	D	0.000023	D	0.97974	0.9333	M	0.81112	2.525	0.45490	D	0.998455	D	0.89917	1.0	D	0.97110	1.0	D	0.98498	1.0613	10	0.87932	D	0	.	15.9131	0.79488	0.0:0.0:1.0:0.0	.	1458	Q01118	SCN7A_HUMAN	H	1458	ENSP00000386796:P1458H	ENSP00000259060:P1458H	P	-	2	0	SCN7A	166971012	0.997000	0.39634	1.000000	0.80357	0.983000	0.72400	2.435000	0.44811	2.694000	0.91930	0.585000	0.79938	CCT		0.383	SCN7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333745.1			24	42	1	0	3.28513e-13	1	3.56457e-13	24	42					T	167262766	G	T	167262766	3	4	435	1	0	0	0	0	1	0	0	0	13923	1000	35	5	679	5	SCN7A	2	167262766	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	121667	167262766	75936607	1348	22273											
XIRP2	129446	broad.mit.edu	37	chr2	168074807	168074807	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caacatcagaacagatctgaGcaggtaatactactacaggt	16	8	8	9	0	2	3	1	1	1	2	2	3	2	3	0	2	6	2	0	2	6	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:168074807G>A	ENST00000409728.1	+	6	1043	c.954G>A	c.(952-954)gaG>gaA	p.E318E	XIRP2_ENST00000409043.1_Silent_p.E285E|XIRP2_ENST00000409605.1_Silent_p.E63E|XIRP2_ENST00000409273.1_Silent_p.E63E|XIRP2_ENST00000409195.1_Silent_p.E285E|XIRP2_ENST00000295237.9_Silent_p.E285E|XIRP2_ENST00000409756.2_Silent_p.E285E|XIRP2_ENST00000420519.1_Silent_p.E318E	NM_001199143.1	NP_001186072.1	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	110					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						ACAGATCTGAGCAGGTAATAC	0.388																																						ENST00000409195.1																			0				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						c.(853-855)gaG>gaA		xin actin-binding repeat containing 2							70	68	68					2																	168074807		1891	4123	6014	SO:0001819	synonymous_variant	129446				actin cytoskeleton organization	cell junction	actin binding	g.chr2:168074807G>A	AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"myomaxin"	609778	"cardiomyopathy associated 3"	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409728.1:c.954G>A	2.37:g.168074807G>A						XIRP2_ENST00000420519.1_Silent_p.E318E|XIRP2_ENST00000409728.1_Silent_p.E318E|XIRP2_ENST00000409756.2_Silent_p.E285E|XIRP2_ENST00000295237.9_Silent_p.E285E|XIRP2_ENST00000409605.1_Silent_p.E63E|XIRP2_ENST00000409273.1_Silent_p.E63E|XIRP2_ENST00000409043.1_Silent_p.E285E	p.E285E	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN			5	944	+			110					A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Silent	SNP	ENST00000409728.1	37	c.855G>A	CCDS56143.1																																																																																				0.388	XIRP2-006	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333552.1	NM_152381		5	40	0	0	0	1	0	5	40					A	168074807	G	A	168074807	2	1	435	1	0	0	0	0	0	0	0	1	17427	962	34	3		3	XIRP2	2	168074807	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	812041	168074807	75124566	1349	22274											
XIRP2	129446	broad.mit.edu	37	chr2	168099595	168099595	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	actcagaaagagaatacttgGaatgggatgaaattctgaag	17	9	11	4	0	2	4	1	2	1	2	2	7	2	6	0	2	1	0	0	2	6	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:168099595G>A	ENST00000409195.1	+	9	1782	c.1693G>A	c.(1693-1695)Gaa>Aaa	p.E565K	XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.E343K|XIRP2_ENST00000295237.9_Missense_Mutation_p.E565K|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000420519.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	390					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						AGAATACTTGGAATGGGATGA	0.418																																						ENST00000409195.1																			0				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						c.(1693-1695)Gaa>Aaa		xin actin-binding repeat containing 2							53	51	52					2																	168099595		1858	4099	5957	SO:0001583	missense	129446				actin cytoskeleton organization	cell junction	actin binding	g.chr2:168099595G>A	AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"myomaxin"	609778	"cardiomyopathy associated 3"	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409195.1:c.1693G>A	2.37:g.168099595G>A	ENSP00000386840:p.Glu565Lys					XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.E565K|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.E343K|XIRP2_ENST00000409043.1_Intron	p.E565K	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN			9	1782	+			390					A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Missense_Mutation	SNP	ENST00000409195.1	37	c.1693G>A	CCDS42769.1	.	.	.	.	.	.	.	.	.	.	G	20.5	3.995092	0.74703	.	.	ENSG00000163092	ENST00000409195;ENST00000295237;ENST00000409273	T;T;T	0.03413	3.94;3.94;3.94	5.54	4.65	0.58169	.	0.000000	0.85682	D	0.000000	T	0.11965	0.0291	L	0.54323	1.7	0.80722	D	1	P;P;D	0.69078	0.908;0.944;0.997	B;P;P	0.57960	0.444;0.646;0.83	T	0.01124	-1.1444	10	0.59425	D	0.04	-12.0601	16.2085	0.82144	0.0:0.1332:0.8668:0.0	.	390;390;343	A4UGR9;A4UGR9-3;A4UGR9-2	XIRP2_HUMAN;.;.	K	565;565;343	ENSP00000386840:E565K;ENSP00000295237:E565K;ENSP00000387255:E343K	ENSP00000295237:E565K	E	+	1	0	XIRP2	167807841	1.000000	0.71417	0.988000	0.46212	0.988000	0.76386	3.340000	0.52143	1.318000	0.45170	0.655000	0.94253	GAA		0.418	XIRP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333547.1	NM_152381		21	28	0	0	0	1	0	21	28					A	168099595	G	A	168099595	3	1	435	1	0	0	0	0	1	0	0	0	17427	1175	41	3	1723	3	XIRP2	2	168099595	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	24788	168099595	75099778	1350	22275											
XIRP2	129446	broad.mit.edu	37	chr2	168103287	168103287	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	aaactgttactgaagaaaagGcagtctctggttgaacgtac	14	10	10	7	1	1	3	0	2	1	1	2	3	1	3	0	2	4	4	0	2	7	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:168103287G>A	ENST00000409195.1	+	9	5474	c.5385G>A	c.(5383-5385)agG>agA	p.R1795R	XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409273.1_Silent_p.R1573R|XIRP2_ENST00000295237.9_Silent_p.R1795R|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000420519.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	1620					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						TGAAGAAAAGGCAGTCTCTGG	0.403																																						ENST00000409195.1																			0				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						c.(5383-5385)agG>agA		xin actin-binding repeat containing 2							185	176	179					2																	168103287		1933	4132	6065	SO:0001819	synonymous_variant	129446				actin cytoskeleton organization	cell junction	actin binding	g.chr2:168103287G>A	AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"myomaxin"	609778	"cardiomyopathy associated 3"	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409195.1:c.5385G>A	2.37:g.168103287G>A						XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000295237.9_Silent_p.R1795R|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409273.1_Silent_p.R1573R|XIRP2_ENST00000409043.1_Intron	p.R1795R	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN			9	5474	+			1620					A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Silent	SNP	ENST00000409195.1	37	c.5385G>A	CCDS42769.1																																																																																				0.403	XIRP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333547.1	NM_152381		35	60	0	0	0	1	0	35	60					A	168103287	G	A	168103287	2	1	435	1	0	0	0	0	0	0	0	1	17427	1194	42	3		3	XIRP2	2	168103287	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	3692	168103287	75096086	1351	22276											
XIRP2	129446	broad.mit.edu	37	chr2	168106837	168106837	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccttaaaacatttcagacaCtattaaatactatcccagga	16	11	4	10	0	1	1	1	0	0	1	2	2	2	2	2	1	2	0	2	1	7	6			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:168106837C>T	ENST00000409195.1	+	9	9024	c.8935C>T	c.(8935-8937)Cta>Tta	p.L2979L	XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409273.1_Silent_p.L2757L|XIRP2_ENST00000295237.9_Silent_p.L2979L|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000420519.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	2804					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						ATTTCAGACACTATTAAATAC	0.348																																						ENST00000409195.1																			0				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						c.(8935-8937)Cta>Tta		xin actin-binding repeat containing 2							85	84	85					2																	168106837		1831	4084	5915	SO:0001819	synonymous_variant	129446				actin cytoskeleton organization	cell junction	actin binding	g.chr2:168106837C>T	AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"myomaxin"	609778	"cardiomyopathy associated 3"	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409195.1:c.8935C>T	2.37:g.168106837C>T						XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000295237.9_Silent_p.L2979L|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409273.1_Silent_p.L2757L|XIRP2_ENST00000409043.1_Intron	p.L2979L	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN			9	9024	+			2804					A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Silent	SNP	ENST00000409195.1	37	c.8935C>T	CCDS42769.1																																																																																				0.348	XIRP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333547.1	NM_152381		30	36	0	0	0	1	0	30	36					T	168106837	C	T	168106837	2	4	435	1	0	0	0	0	0	0	0	1	17427	564	20	3		3	XIRP2	2	168106837	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	3550	168106837	75092536	1352	22277											
XIRP2	129446	broad.mit.edu	37	chr2	168107609	168107609	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgtggtagggactctccacCtacaatcacaataccagtaa	13	9	7	12	1	2	0	1	0	1	0	4	1	2	1	3	2	2	2	3	2	6	4	rs375611135		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:168107609C>A	ENST00000409195.1	+	9	9796	c.9707C>A	c.(9706-9708)cCt>cAt	p.P3236H	XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.P3014H|XIRP2_ENST00000295237.9_Missense_Mutation_p.P3236H|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000420519.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	3061					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						GACTCTCCACCTACAATCACA	0.438																																						ENST00000409195.1																			0				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						c.(9706-9708)cCt>cAt		xin actin-binding repeat containing 2							60	57	58					2																	168107609		1868	4124	5992	SO:0001583	missense	129446				actin cytoskeleton organization	cell junction	actin binding	g.chr2:168107609C>A	AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"myomaxin"	609778	"cardiomyopathy associated 3"	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409195.1:c.9707C>A	2.37:g.168107609C>A	ENSP00000386840:p.Pro3236His					XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.P3236H|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.P3014H|XIRP2_ENST00000409043.1_Intron	p.P3236H	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN			9	9796	+			3061					A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Missense_Mutation	SNP	ENST00000409195.1	37	c.9707C>A	CCDS42769.1	.	.	.	.	.	.	.	.	.	.	C	18.23	3.577615	0.65878	.	.	ENSG00000163092	ENST00000409195;ENST00000295237;ENST00000409273;ENST00000413534	T;T;T	0.02525	4.26;4.26;4.26	5.18	5.18	0.71444	.	0.544540	0.20212	N	0.096866	T	0.15046	0.0363	M	0.67953	2.075	0.42608	D	0.993302	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.996;0.998;0.991	T	0.00053	-1.2186	10	0.72032	D	0.01	-13.5698	18.3448	0.90318	0.0:1.0:0.0:0.0	.	3061;3061;3014	A4UGR9;A4UGR9-3;A4UGR9-2	XIRP2_HUMAN;.;.	H	3236;3236;3014;650	ENSP00000386840:P3236H;ENSP00000295237:P3236H;ENSP00000387255:P3014H	ENSP00000295237:P3236H	P	+	2	0	XIRP2	167815855	0.113000	0.22115	0.989000	0.46669	0.876000	0.50452	2.062000	0.41413	2.805000	0.96524	0.460000	0.39030	CCT		0.438	XIRP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333547.1	NM_152381		4	50	1	0	0.150653	1	0.151081	4	50					A	168107609	C	A	168107609	3	1	435	1	0	0	0	0	1	0	0	0	17427	681	24	5	9737	5	XIRP2	2	168107609	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	772	168107609	75091764	1353	22278											
XIRP2	129446	broad.mit.edu	37	chr2	168110575	168110575	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aagacaaggaaatatgtataCtttgtcaaaagacagtttat	18	12	7	4	0	1	2	1	0	0	2	1	3	1	3	0	1	1	2	0	1	9	6			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:168110575C>T	ENST00000409728.1	+	10	1398	c.1309C>T	c.(1309-1311)Ctt>Ttt	p.L437F	XIRP2_ENST00000409043.1_Missense_Mutation_p.L404F|XIRP2_ENST00000409605.1_Missense_Mutation_p.L182F|XIRP2_ENST00000409273.1_Missense_Mutation_p.T3308I|XIRP2_ENST00000409195.1_Missense_Mutation_p.T3530I|XIRP2_ENST00000295237.9_Missense_Mutation_p.T3530I|XIRP2_ENST00000409756.2_Missense_Mutation_p.L404F|XIRP2_ENST00000420519.1_Missense_Mutation_p.L437F	NM_001199143.1	NP_001186072.1	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	0					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						AATATGTATACTTTGTCAAAA	0.353																																						ENST00000409195.1																			0				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						c.(10588-10590)aCt>aTt		xin actin-binding repeat containing 2							75	72	73					2																	168110575		1836	4089	5925	SO:0001583	missense	129446				actin cytoskeleton organization	cell junction	actin binding	g.chr2:168110575C>T	AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"myomaxin"	609778	"cardiomyopathy associated 3"	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409728.1:c.1309C>T	2.37:g.168110575C>T	ENSP00000386619:p.Leu437Phe					XIRP2_ENST00000420519.1_Missense_Mutation_p.L437F|XIRP2_ENST00000409728.1_Missense_Mutation_p.L437F|XIRP2_ENST00000409756.2_Missense_Mutation_p.L404F|XIRP2_ENST00000295237.9_Missense_Mutation_p.T3530I|XIRP2_ENST00000409605.1_Missense_Mutation_p.L182F|XIRP2_ENST00000409273.1_Missense_Mutation_p.T3308I|XIRP2_ENST00000409043.1_Missense_Mutation_p.L404F	p.T3530I	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN			10	10678	+			3355					A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Missense_Mutation	SNP	ENST00000409728.1	37	c.10589C>T	CCDS56143.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.87|18.87	3.715825|3.715825	0.68844|0.68844	.|.	.|.	ENSG00000163092|ENSG00000163092	ENST00000409043;ENST00000409728;ENST00000409756;ENST00000420519;ENST00000409605|ENST00000409195;ENST00000295237;ENST00000409273;ENST00000413534	D;D;D;D;D|T;T;T	0.87491|0.02631	-2.26;-2.26;-2.26;-2.26;-2.26|4.22;4.22;4.22	5.69|5.69	4.79|4.79	0.61399|0.61399	.|.	.|.	.|.	.|.	.|.	T|T	0.09247|0.09247	0.0228|0.0228	.|.	.|.	.|.	0.26934|0.26934	N|N	0.966407|0.966407	D;D|P;P	0.69078|0.49090	0.997;0.997|0.868;0.919	D;D|B;P	0.65987|0.54312	0.94;0.94|0.289;0.748	T|T	0.04413|0.04413	-1.0953|-1.0953	8|8	0.23891|0.54805	T|T	0.37|0.06	-1.0369|-1.0369	13.4077|13.4077	0.60924|0.60924	0.2949:0.7051:0.0:0.0|0.2949:0.7051:0.0:0.0	.|.	404;437|3355;3308	A4UGR9-4;A4UGR9-6|A4UGR9;A4UGR9-2	.;.|XIRP2_HUMAN;.	F|I	404;437;404;437;182|3530;3530;3308;944	ENSP00000386454:L404F;ENSP00000386619:L437F;ENSP00000386724:L404F;ENSP00000415541:L437F;ENSP00000386981:L182F|ENSP00000386840:T3530I;ENSP00000295237:T3530I;ENSP00000387255:T3308I	ENSP00000386454:L404F|ENSP00000295237:T3530I	L|T	+|+	1|2	0|0	XIRP2|XIRP2	167818821|167818821	0.997000|0.997000	0.39634|0.39634	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	2.724000|2.724000	0.47285|0.47285	1.356000|1.356000	0.45884|0.45884	0.563000|0.563000	0.77884|0.77884	CTT|ACT		0.353	XIRP2-006	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333552.1	NM_152381		26	29	0	0	0	1	0	26	29					T	168110575	C	T	168110575	3	4	435	1	0	0	0	0	1	0	0	0	17427	565	20	3	10623	3	XIRP2	2	168110575	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	2966	168110575	75088798	1354	22279											
ABCB11	8647	broad.mit.edu	37	chr2	169791908	169791908	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tccaattccagcaacagtgcGgatgttactgagggcttcat	10	11	10	10	1	1	1	1	1	0	0	3	2	3	2	2	2	4	3	2	2	3	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:169791908G>A	ENST00000263817.6	-	23	2966	c.2842C>T	c.(2842-2844)Cgc>Tgc	p.R948C		NM_003742.2	NP_003733.2	O95342	ABCBB_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 11	948	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.				bile acid and bile salt transport (GO:0015721)|bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|canalicular bile acid transport (GO:0015722)|small molecule metabolic process (GO:0044281)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intercellular canaliculus (GO:0046581)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|bile acid-exporting ATPase activity (GO:0015432)|canalicular bile acid transmembrane transporter activity (GO:0015126)|sodium-exporting ATPase activity, phosphorylative mechanism (GO:0008554)|transporter activity (GO:0005215)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(16)|lung(26)|ovary(3)|stomach(1)	57					Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Chlorpromazine(DB00477)|Cimetidine(DB00501)|Clofazimine(DB00845)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dexamethasone(DB01234)|Digoxin(DB00390)|Doxorubicin(DB00997)|Ethinyl Estradiol(DB00977)|Fluorescein(DB00693)|Fusidic Acid(DB02703)|Glyburide(DB01016)|Ketoconazole(DB01026)|Novobiocin(DB01051)|Paclitaxel(DB01229)|Phenobarbital(DB01174)|Ponatinib(DB08901)|Pravastatin(DB00175)|Progesterone(DB00396)|Quinidine(DB00908)|Reserpine(DB00206)|Rifampicin(DB01045)|Rosuvastatin(DB01098)|Tamoxifen(DB00675)|Ursodeoxycholic acid(DB01586)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)	GCAACAGTGCGGATGTTACTG	0.438																																						ENST00000263817.6																			0				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(16)|lung(26)|ovary(3)|stomach(1)	57	GRCh37	CM081493	ABCB11	M		c.(2842-2844)Cgc>Tgc		ATP-binding cassette, sub-family B (MDR/TAP), member 11	Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Glibenclamide(DB01016)						166	156	159					2																	169791908		1875	4105	5980	SO:0001583	missense	8647				bile acid biosynthetic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|bile acid-exporting ATPase activity|canalicular bile acid transmembrane transporter activity|sodium-exporting ATPase activity, phosphorylative mechanism	g.chr2:169791908G>A	AF091582	CCDS46444.1	2q24	2012-03-14			ENSG00000073734	ENSG00000073734		"ATP binding cassette transporters / subfamily B"	42	protein-coding gene	gene with protein product	"ABC member 16, MDR/TAP subfamily"	603201	"progressive familial intrahepatic cholestasis 2", "bile salt export pump"	BSEP, PFIC2		9806540	Standard	NM_003742		Approved	ABC16, SPGP, PFIC-2, PGY4	uc002ueo.1	O95342	OTTHUMG00000154039	ENST00000263817.6:c.2842C>T	2.37:g.169791908G>A	ENSP00000263817:p.Arg948Cys						p.R948C	NM_003742.2	NP_003733.2	O95342	ABCBB_HUMAN			23	2966	-			948			ABC transmembrane type-1 2.		Q53TL2|Q9UNB2	Missense_Mutation	SNP	ENST00000263817.6	37	c.2842C>T	CCDS46444.1	.	.	.	.	.	.	.	.	.	.	G	19.81	3.896947	0.72639	.	.	ENSG00000073734	ENST00000263817	D	0.91996	-2.95	5.68	5.68	0.88126	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.000000	0.85682	D	0.000000	D	0.96972	0.9011	H	0.95004	3.61	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.97493	1.0055	10	0.87932	D	0	.	12.8028	0.57596	0.0:0.0:0.7275:0.2725	.	390;948	B4DZQ8;O95342	.;ABCBB_HUMAN	C	948	ENSP00000263817:R948C	ENSP00000263817:R948C	R	-	1	0	ABCB11	169500154	1.000000	0.71417	1.000000	0.80357	0.775000	0.43874	2.445000	0.44899	2.672000	0.90937	0.655000	0.94253	CGC		0.438	ABCB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333616.2	NM_003742		49	85	0	0	0	1	0	49	85					A	169791908	G	A	169791908	3	1	435	1	0	0	0	0	1	0	0	0	42	1116	39	2	1147	2	ABCB11	2	169791908	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	1681333	169791908	73407465	1355	22280											
LRP2	4036	broad.mit.edu	37	chr2	170025112	170025112	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atcgccatcacatttccaatAtggcgggatacaaacatggt	13	10	8	10	2	1	0	1	0	0	0	3	1	2	1	2	3	2	0	2	3	4	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:170025112A>G	ENST00000263816.3	-	61	11857	c.11572T>C	c.(11572-11574)Tat>Cat	p.Y3858H		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	3858	LDL-receptor class A 34. {ECO:0000255|PROSITE-ProRule:PRU00124}.				cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"	CATTTCCAATATGGCGGGATA	0.473																																						ENST00000263816.3																			0				biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315						c.(11572-11574)Tat>Cat		low density lipoprotein receptor-related protein 2	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)						121	107	112					2																	170025112		2203	4300	6503	SO:0001583	missense	4036				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding	g.chr2:170025112A>G		CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"Low density lipoprotein receptors"	6694	protein-coding gene	gene with protein product	"megalin"	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.11572T>C	2.37:g.170025112A>G	ENSP00000263816:p.Tyr3858His						p.Y3858H	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN		STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	61	11857	-			3858			LDL-receptor class A 34.		O00711|Q16215	Missense_Mutation	SNP	ENST00000263816.3	37	c.11572T>C	CCDS2232.1	.	.	.	.	.	.	.	.	.	.	A	2.775	-0.254772	0.05829	.	.	ENSG00000081479	ENST00000263816	D	0.95307	-3.67	5.82	-7.63	0.01290	Low-density lipoprotein (LDL) receptor class A, conserved site (1);	0.787182	0.12508	N	0.462735	T	0.73953	0.3653	N	0.01505	-0.83	0.09310	N	1	B	0.09022	0.002	B	0.11329	0.006	T	0.73167	-0.4068	10	0.15499	T	0.54	.	0.5908	0.00728	0.3895:0.195:0.2267:0.1888	.	3858	P98164	LRP2_HUMAN	H	3858	ENSP00000263816:Y3858H	ENSP00000263816:Y3858H	Y	-	1	0	LRP2	169733358	0.066000	0.20996	0.000000	0.03702	0.043000	0.13939	0.871000	0.28023	-1.307000	0.02321	-0.496000	0.04628	TAT		0.473	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2	NM_004525		25	14	0	0	0	1	0	25	14					G	170025112	A	G	170025112	3	3	435	1	0	0	0	0	1	0	0	0	8956	449	16	4	2471	4	LRP2	2	170025112	Missense_Mutation	SNP	A	TCGA-XK-AAIW-01A-11D-A41K-08	233204	170025112	73174261	1356	22281											
LRP2	4036	broad.mit.edu	37	chr2	170062058	170062058	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcccactgggcatgaccagaCtgctgttcacaatgggtacg	9	8	12	12	1	1	2	1	1	0	1	1	2	1	2	2	2	2	4	2	2	2	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:170062058C>T	ENST00000263816.3	-	41	7931	c.7646G>A	c.(7645-7647)aGt>aAt	p.S2549N		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	2549					cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"	CATGACCAGACTGCTGTTCAC	0.512																																						ENST00000263816.3																			0				biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315						c.(7645-7647)aGt>aAt		low density lipoprotein receptor-related protein 2	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)						127	116	120					2																	170062058		2203	4300	6503	SO:0001583	missense	4036				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding	g.chr2:170062058C>T		CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"Low density lipoprotein receptors"	6694	protein-coding gene	gene with protein product	"megalin"	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.7646G>A	2.37:g.170062058C>T	ENSP00000263816:p.Ser2549Asn						p.S2549N	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN		STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	41	7931	-			2549					O00711|Q16215	Missense_Mutation	SNP	ENST00000263816.3	37	c.7646G>A	CCDS2232.1	.	.	.	.	.	.	.	.	.	.	C	4.862	0.160243	0.09287	.	.	ENSG00000081479	ENST00000263816	D	0.94931	-3.56	5.9	3.17	0.36434	Six-bladed beta-propeller, TolB-like (1);	0.202935	0.64402	N	0.000013	D	0.85544	0.5721	N	0.04043	-0.29	0.80722	D	1	B	0.19073	0.033	B	0.25614	0.062	T	0.76440	-0.2958	10	0.35671	T	0.21	.	9.9292	0.41512	0.0:0.7024:0.0:0.2976	.	2549	P98164	LRP2_HUMAN	N	2549	ENSP00000263816:S2549N	ENSP00000263816:S2549N	S	-	2	0	LRP2	169770304	1.000000	0.71417	0.545000	0.28153	0.026000	0.11368	1.580000	0.36547	0.415000	0.25817	-0.258000	0.10820	AGT		0.512	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2	NM_004525		28	25	0	0	0	1	0	28	25					T	170062058	C	T	170062058	3	4	435	1	0	0	0	0	1	0	0	0	8956	565	20	3	6477	3	LRP2	2	170062058	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	36946	170062058	73137315	1357	22282											
FASTKD1	79675	broad.mit.edu	37	chr2	170417105	170417105	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtccacattacttaaaaataCgttattacatctttctaata	15	16	2	8	1	2	0	0	0	2	0	3	0	3	0	1	0	3	1	1	0	9	8			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:170417105C>T	ENST00000453153.2	-	5	1109	c.763G>A	c.(763-765)Gta>Ata	p.V255I	FASTKD1_ENST00000453929.2_Missense_Mutation_p.V255I	NM_024622.3	NP_078898.3	Q53R41	FAKD1_HUMAN	FAST kinase domains 1	255					cellular respiration (GO:0045333)	mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(5)|large_intestine(10)|lung(9)|ovary(4)|prostate(3)	37						CTTAAAAATACGTTATTACAT	0.289																																						ENST00000453153.2																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(5)|large_intestine(10)|lung(9)|ovary(4)|prostate(3)	37						c.(763-765)Gta>Ata		FAST kinase domains 1							66	69	68					2																	170417105		2203	4300	6503	SO:0001583	missense	79675				apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity	g.chr2:170417105C>T	AL832058	CCDS33318.1, CCDS63051.1	2q31.1	2008-02-05			ENSG00000138399	ENSG00000138399			26150	protein-coding gene	gene with protein product						11347906	Standard	NM_024622		Approved	FLJ21901	uc002uev.4	Q53R41	OTTHUMG00000154953	ENST00000453153.2:c.763G>A	2.37:g.170417105C>T	ENSP00000400513:p.Val255Ile					FASTKD1_ENST00000453929.2_Missense_Mutation_p.V255I	p.V255I	NM_024622.3	NP_078898.3	Q53R41	FAKD1_HUMAN			5	1109	-			255					Q8N583|Q8TEA9|Q96JM5|Q96N71|Q9H6T4	Missense_Mutation	SNP	ENST00000453153.2	37	c.763G>A	CCDS33318.1	.	.	.	.	.	.	.	.	.	.	C	1.740	-0.491938	0.04322	.	.	ENSG00000138399	ENST00000453153;ENST00000453929;ENST00000417376;ENST00000438035;ENST00000445210	T;T	0.17528	2.27;2.27	5.44	1.53	0.23141	.	0.430298	0.25523	N	0.030092	T	0.10723	0.0262	L	0.45698	1.435	0.23425	N	0.997702	B;P;B	0.35011	0.349;0.48;0.209	B;B;B	0.29942	0.051;0.109;0.028	T	0.29212	-1.0019	10	0.12430	T	0.62	-3.6403	6.5092	0.22212	0.0:0.5835:0.124:0.2925	.	232;255;255	D3DPC4;Q53R41-2;Q53R41	.;.;FAKD1_HUMAN	I	255;255;83;232;255	ENSP00000400513:V255I;ENSP00000403229:V255I	ENSP00000408667:V83I	V	-	1	0	FASTKD1	170125351	0.004000	0.15560	0.968000	0.41197	0.071000	0.16799	-0.023000	0.12456	0.258000	0.21686	-0.801000	0.03215	GTA		0.289	FASTKD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337788.2	NM_024622		21	28	0	0	0	1	0	21	28					T	170417105	C	T	170417105	3	4	435	1	0	0	0	0	1	0	0	0	5685	536	19	1	1824	1	FASTKD1	2	170417105	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	355047	170417105	72782268	1358	22283											
FASTKD1	79675	broad.mit.edu	37	chr2	170428528	170428528	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatgactctaggaaaacaggTgtttttttcatttatatcac	13	16	6	6	0	3	1	2	1	1	0	3	2	3	2	0	2	1	1	0	2	6	7			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:170428528T>C	ENST00000453153.2	-	2	358	c.12A>G	c.(10-12)acA>acG	p.T4T	FASTKD1_ENST00000453929.2_Silent_p.T4T	NM_024622.3	NP_078898.3	Q53R41	FAKD1_HUMAN	FAST kinase domains 1	4					cellular respiration (GO:0045333)	mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(5)|large_intestine(10)|lung(9)|ovary(4)|prostate(3)	37						GGAAAACAGGTGTTTTTTTCA	0.368																																						ENST00000453153.2																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(5)|large_intestine(10)|lung(9)|ovary(4)|prostate(3)	37						c.(10-12)acA>acG		FAST kinase domains 1							39	40	40					2																	170428528		2199	4298	6497	SO:0001819	synonymous_variant	79675				apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity	g.chr2:170428528T>C	AL832058	CCDS33318.1, CCDS63051.1	2q31.1	2008-02-05			ENSG00000138399	ENSG00000138399			26150	protein-coding gene	gene with protein product						11347906	Standard	NM_024622		Approved	FLJ21901	uc002uev.4	Q53R41	OTTHUMG00000154953	ENST00000453153.2:c.12A>G	2.37:g.170428528T>C						FASTKD1_ENST00000453929.2_Silent_p.T4T	p.T4T	NM_024622.3	NP_078898.3	Q53R41	FAKD1_HUMAN			2	358	-			4					Q8N583|Q8TEA9|Q96JM5|Q96N71|Q9H6T4	Silent	SNP	ENST00000453153.2	37	c.12A>G	CCDS33318.1																																																																																				0.368	FASTKD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337788.2	NM_024622		30	34	0	0	0	1	0	30	34					C	170428528	T	C	170428528	2	2	435	1	0	0	0	0	0	0	0	1	5685	1683	59	4		4	FASTKD1	2	170428528	Silent	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	11423	170428528	72770845	1359	22284											
PPIG	9360	broad.mit.edu	37	chr2	170493989	170493989	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atgaaaaaaataaaaaatttGatcatgaatcaagccctgga	21	9	6	5	0	2	3	2	3	0	0	2	4	2	4	1	1	1	0	1	1	8	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:170493989G>A	ENST00000260970.3	+	14	2441	c.2221G>A	c.(2221-2223)Gat>Aat	p.D741N	PPIG_ENST00000448752.2_Missense_Mutation_p.D741N|PPIG_ENST00000409714.3_Missense_Mutation_p.D726N	NM_004792.2	NP_004783.2	Q13427	PPIG_HUMAN	peptidylprolyl isomerase G (cyclophilin G)	741					protein folding (GO:0006457)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	cyclosporin A binding (GO:0016018)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|poly(A) RNA binding (GO:0044822)			NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(17)|ovary(2)|stomach(1)|urinary_tract(1)	43					L-Proline(DB00172)	TAAAAAATTTGATCATGAATC	0.333																																						ENST00000260970.3																			0				NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(17)|ovary(2)|stomach(1)|urinary_tract(1)	43						c.(2221-2223)Gat>Aat		peptidylprolyl isomerase G (cyclophilin G)	L-Proline(DB00172)						28	30	29					2																	170493989		2154	4135	6289	SO:0001583	missense	9360				protein folding|RNA splicing	nuclear matrix|nuclear speck	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity	g.chr2:170493989G>A	X99717	CCDS2235.1	2q31.1	2010-07-23	2006-01-12		ENSG00000138398	ENSG00000138398	6.1.1.16		14650	protein-coding gene	gene with protein product	"SR-related CTD-associated factor 10"	606093	"peptidyl-prolyl isomerase G (cyclophilin G)"			8973360, 9153302	Standard	NM_004792		Approved	CARS-Cyp, SRCyp, SCAF10	uc002uez.3	Q13427	OTTHUMG00000132206	ENST00000260970.3:c.2221G>A	2.37:g.170493989G>A	ENSP00000260970:p.Asp741Asn					PPIG_ENST00000448752.2_Missense_Mutation_p.D741N|PPIG_ENST00000409714.3_Missense_Mutation_p.D726N	p.D741N	NM_004792.2	NP_004783.2	Q13427	PPIG_HUMAN			14	2441	+			741					D3DPC5|D3DPC6|O00706|Q53R40|Q53SN4|Q96DG9	Missense_Mutation	SNP	ENST00000260970.3	37	c.2221G>A	CCDS2235.1	.	.	.	.	.	.	.	.	.	.	G	13.83	2.352731	0.41700	.	.	ENSG00000138398	ENST00000260970;ENST00000409714;ENST00000448752	T;T;T	0.17528	2.28;2.27;2.28	6.08	6.08	0.98989	.	0.191307	0.46758	D	0.000261	T	0.11281	0.0275	N	0.14661	0.345	0.31347	N	0.683015	B;B;B	0.24618	0.107;0.107;0.107	B;B;B	0.18263	0.021;0.021;0.021	T	0.06285	-1.0835	10	0.39692	T	0.17	-21.5244	13.8168	0.63297	0.0695:0.0:0.9305:0.0	.	726;726;741	E9PG73;Q2NKQ6;Q13427	.;.;PPIG_HUMAN	N	741;726;741	ENSP00000260970:D741N;ENSP00000386245:D726N;ENSP00000407083:D741N	ENSP00000260970:D741N	D	+	1	0	PPIG	170202235	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	5.133000	0.64764	2.894000	0.99253	0.591000	0.81541	GAT		0.333	PPIG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255264.2			7	34	0	0	0	1	0	7	34					A	170493989	G	A	170493989	3	1	435	1	0	0	0	0	1	0	0	0	12324	1290	45	3	2267	3	PPIG	2	170493989	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	65461	170493989	72705384	1360	22285											
C2orf77	129881	broad.mit.edu	37	chr2	170502639	170502639	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acaagagcttcagtaagtctGcaataatctaattctgcttg	13	13	7	8	0	4	1	1	0	3	1	4	1	4	1	0	0	3	4	0	0	5	6			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:170502639G>A	ENST00000447353.1	-	9	1476	c.1371C>T	c.(1369-1371)tgC>tgT	p.C457C		NM_001085447.1	NP_001078916.1	Q0VFZ6	CC173_HUMAN	coiled-coil domain containing 173	457																	CAGTAAGTCTGCAATAATCTA	0.318																																						ENST00000447353.1																			0											c.(1369-1371)tgC>tgT		coiled-coil domain containing 173							214	215	215					2																	170502639		1839	4087	5926	SO:0001819	synonymous_variant	129881							g.chr2:170502639G>A	BC015980, BC117445	CCDS46445.1	2q31.1	2012-08-07	2012-08-07	2012-08-07	ENSG00000154479	ENSG00000154479			25064	protein-coding gene	gene with protein product	"hypothetical LOC129881"		"chromosome 2 open reading frame 77"	C2orf77		12477932	Standard	NM_001085447		Approved	LOC129881	uc002ufe.2	Q0VFZ6	OTTHUMG00000154116	ENST00000447353.1:c.1371C>T	2.37:g.170502639G>A							p.C457C	NM_001085447.1	NP_001078916.1					9	1476	-								Q6PJF6	Silent	SNP	ENST00000447353.1	37	c.1371C>T	CCDS46445.1																																																																																				0.318	CCDC173-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333954.2	NM_001085447		46	95	0	0	0	1	0	46	95					A	170502639	G	A	170502639	2	1	435	1	0	0	0	0	0	0	0	1	2194	1311	46	3		3	C2orf77	2	170502639	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	8650	170502639	72696734	1361	22286											
KLHL23	151230	broad.mit.edu	37	chr2	170592130	170592130	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaagaagaagctatcatagaGccagttattaagtggactgc	16	9	10	6	0	1	3	1	0	0	3	1	4	1	4	1	1	3	2	1	1	7	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:170592130G>A	ENST00000392647.2	+	2	850	c.606G>A	c.(604-606)gaG>gaA	p.E202E	KLHL23_ENST00000272797.4_Silent_p.E202E|KLHL23_ENST00000602521.1_Intron	NM_144711.5	NP_653312.2	Q8NBE8	KLH23_HUMAN	kelch-like family member 23	202	BACK.									breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(4)|skin(1)|urinary_tract(1)	16						CTATCATAGAGCCAGTTATTA	0.353																																						ENST00000392647.2																			0				breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(4)|skin(1)|urinary_tract(1)	16						c.(604-606)gaG>gaA		kelch-like family member 23							47	51	49					2																	170592130		2203	4300	6503	SO:0001819	synonymous_variant	151230							g.chr2:170592130G>A	BC010437	CCDS2236.1	2q31.1	2013-01-30	2013-01-30		ENSG00000213160	ENSG00000213160		"Kelch-like", "BTB/POZ domain containing"	27506	protein-coding gene	gene with protein product			"kelch-like 23 (Drosophila)"				Standard	NM_144711		Approved	MGC2610, FLJ37812, MGC22679	uc002ufi.2	Q8NBE8	OTTHUMG00000132213	ENST00000392647.2:c.606G>A	2.37:g.170592130G>A						KLHL23_ENST00000272797.4_Silent_p.E202E|KLHL23_ENST00000602521.1_Intron	p.E202E	NM_144711.5	NP_653312.2	Q8NBE8	KLH23_HUMAN			2	850	+			202			BACK.		Q8N9B9|Q96FT8	Silent	SNP	ENST00000392647.2	37	c.606G>A	CCDS2236.1																																																																																				0.353	KLHL23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255271.2	NM_144711		26	32	0	0	0	1	0	26	32					A	170592130	G	A	170592130	2	1	435	1	0	0	0	0	0	0	0	1	8378	962	34	3		3	KLHL23	2	170592130	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	89491	170592130	72607243	1362	22287											
UBR3	130507	broad.mit.edu	37	chr2	170929970	170929970	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ttttcagttcttgccagctgCctgggacttctgccaacgtt	5	15	9	12	1	3	0	1	0	2	0	3	1	3	1	3	1	5	3	3	1	1	6			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:170929970C>T	ENST00000272793.5	+	36	5102	c.5052C>T	c.(5050-5052)tgC>tgT	p.C1684C	UBR3_ENST00000418381.1_Silent_p.C1684C|UBR3_ENST00000392631.1_Silent_p.C505C			Q6ZT12	UBR3_HUMAN	ubiquitin protein ligase E3 component n-recognin 3 (putative)	1684					embryo development (GO:0009790)|in utero embryonic development (GO:0001701)|olfactory behavior (GO:0042048)|sensory perception of smell (GO:0007608)|suckling behavior (GO:0001967)|ubiquitin-dependent protein catabolic process (GO:0006511)	integral component of membrane (GO:0016021)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(3)|stomach(1)	33						TTGCCAGCTGCCTGGGACTTC	0.383																																						ENST00000272793.5																			0				breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(3)|stomach(1)	33						c.(5050-5052)tgC>tgT		ubiquitin protein ligase E3 component n-recognin 3 (putative)							134	134	134					2																	170929970		2203	4300	6503	SO:0001819	synonymous_variant	130507				sensory perception of smell|suckling behavior|ubiquitin-dependent protein catabolic process	integral to membrane	ubiquitin-protein ligase activity|zinc ion binding	g.chr2:170929970C>T	AL834144	CCDS2238.2	2q31.1	2008-06-23	2008-06-23	2007-11-29	ENSG00000144357	ENSG00000144357		"Ubiquitin protein ligase E3 component n-recognins"	30467	protein-coding gene	gene with protein product		613831	"zinc finger protein 650"	ZNF650		17462990	Standard	NM_172070		Approved	KIAA2024, DKFZp434P117, FLJ37422	uc010zdi.2	Q6ZT12	OTTHUMG00000132229	ENST00000272793.5:c.5052C>T	2.37:g.170929970C>T						UBR3_ENST00000418381.1_Silent_p.C1684C|UBR3_ENST00000392631.1_Silent_p.C505C	p.C1684C			Q6ZT12	UBR3_HUMAN			36	5102	+			1684					B4DZR7|Q2KHN5|Q6ZR55|Q6ZSC2|Q8IVE7|Q8ND96	Silent	SNP	ENST00000272793.5	37	c.5052C>T		.	.	.	.	.	.	.	.	.	.	C	8.933	0.963897	0.18583	.	.	ENSG00000144357	ENST00000392632	.	.	.	5.4	3.61	0.41365	.	.	.	.	.	T	0.58722	0.2142	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.53648	-0.8409	4	.	.	.	.	9.0722	0.36500	0.0:0.7122:0.0:0.2878	.	.	.	.	V	746	.	.	A	+	2	0	UBR3	170638216	0.998000	0.40836	1.000000	0.80357	0.984000	0.73092	1.568000	0.36418	0.759000	0.33084	-0.136000	0.14681	GCC		0.383	UBR3-001	KNOWN	non_canonical_conserved|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000255290.2	NM_172070		33	81	0	0	0	1	0	33	81					T	170929970	C	T	170929970	2	4	435	1	0	0	0	0	0	0	0	1	16900	747	26	3		3	UBR3	2	170929970	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	337840	170929970	72269403	1363	22288											
TLK1	9874	broad.mit.edu	37	chr2	171863309	171863309	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgaaccttaatattcacttaCgtatctgtatccaaggagaa	14	13	6	8	1	2	2	1	1	1	1	3	3	3	2	2	1	2	2	2	1	8	6			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:171863309C>T	ENST00000431350.2	-	16	2003		c.e16+1		TLK1_ENST00000521943.1_Splice_Site|TLK1_ENST00000360843.3_Splice_Site|TLK1_ENST00000442919.2_Splice_Site|TLK1_ENST00000434911.2_Splice_Site			Q9UKI8	TLK1_HUMAN	tousled-like kinase 1						cell cycle (GO:0007049)|cellular response to DNA damage stimulus (GO:0006974)|chromatin modification (GO:0016568)|intracellular protein transport (GO:0006886)|intracellular signal transduction (GO:0035556)|protein phosphorylation (GO:0006468)|regulation of chromatin assembly or disassembly (GO:0001672)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(8)|liver(3)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	33						TATTCACTTACGTATCTGTAT	0.363																																						ENST00000442919.2																			0				breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(8)|liver(3)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	33						c.e16+1		tousled-like kinase 1							97	104	102					2																	171863309		2202	4297	6499	SO:0001630	splice_region_variant	9874				cell cycle|chromatin modification|intracellular protein transport|intracellular signal transduction|regulation of chromatin assembly or disassembly|response to DNA damage stimulus	nucleus	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr2:171863309C>T	AB004885	CCDS2241.1, CCDS46447.1, CCDS46448.1	2q31.1	2010-04-19			ENSG00000198586	ENSG00000198586			11841	protein-coding gene	gene with protein product		608438				9427565, 12660173	Standard	NM_012290		Approved	KIAA0137, PKU-BETA	uc002ugp.2	Q9UKI8	OTTHUMG00000132243	ENST00000431350.2:c.1598+1G>A	2.37:g.171863309C>T						TLK1_ENST00000360843.3_Splice_Site|TLK1_ENST00000521943.1_Splice_Site|TLK1_ENST00000434911.2_Splice_Site|TLK1_ENST00000431350.2_Splice_Site		NM_012290.4	NP_036422.3	Q9UKI8	TLK1_HUMAN			16	2070	-								B3KR15|B4DX87|Q14150|Q8N591|Q9NYH2|Q9Y4F6	Splice_Site	SNP	ENST00000431350.2	37		CCDS2241.1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.441178	0.83993	.	.	ENSG00000198586	ENST00000442919;ENST00000431350;ENST00000360843;ENST00000521943;ENST00000434911	.	.	.	4.95	4.95	0.65309	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.616	0.91303	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TLK1	171571555	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	7.818000	0.86416	2.481000	0.83766	0.454000	0.30748	.		0.363	TLK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255314.1	NM_012290	Intron	10	81	0	0	0	1	0	10	81					T	171863309	C	T	171863309	5	4	435	1	0	0	0	0	0	0	1	0	15940	550	19	1	725	1	TLK1	2	171863309	Splice_Site	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	933339	171863309	71336064	1364	22289											
SLC25A12	8604	broad.mit.edu	37	chr2	172671677	172671677	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtaagcagactcggcaatCtggagccagataggcctgcc	10	7	12	12	1	1	2	0	0	1	2	2	3	1	3	3	3	3	3	3	3	3	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:172671677C>A	ENST00000422440.2	-	10	1003	c.966G>T	c.(964-966)caG>caT	p.Q322H	SLC25A12_ENST00000392592.4_Missense_Mutation_p.Q215H	NM_003705.4	NP_003696.2	O75746	CMC1_HUMAN	solute carrier family 25 (aspartate/glutamate carrier), member 12	322					aspartate transport (GO:0015810)|carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|L-glutamate transport (GO:0015813)|malate-aspartate shuttle (GO:0043490)|response to calcium ion (GO:0051592)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)|L-aspartate transmembrane transporter activity (GO:0015183)|L-glutamate transmembrane transporter activity (GO:0005313)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|upper_aerodigestive_tract(1)	23			OV - Ovarian serous cystadenocarcinoma(117;0.216)		L-Aspartic Acid(DB00128)	ACTCGGCAATCTGGAGCCAGA	0.458																																						ENST00000422440.2																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|upper_aerodigestive_tract(1)	23						c.(964-966)caG>caT		solute carrier family 25 (aspartate/glutamate carrier), member 12	L-Aspartic Acid(DB00128)						77	74	75					2																	172671677		2203	4300	6503	SO:0001583	missense	8604				gluconeogenesis|malate-aspartate shuttle|response to calcium ion	integral to membrane|mitochondrial inner membrane	calcium ion binding|L-aspartate transmembrane transporter activity|L-glutamate transmembrane transporter activity|protein binding	g.chr2:172671677C>A	Y14494	CCDS33327.1	2q24	2013-05-22	2012-03-29		ENSG00000115840	ENSG00000115840		"Solute carriers", "EF-hand domain containing"	10982	protein-coding gene	gene with protein product		603667	"solute carrier family 25 (mitochondrial carrier, Aralar), member 12"			9722566, 10702666, 11566871	Standard	NM_003705		Approved	Aralar	uc002uhh.3	O75746	OTTHUMG00000134290	ENST00000422440.2:c.966G>T	2.37:g.172671677C>A	ENSP00000388658:p.Gln322His					SLC25A12_ENST00000392592.4_Missense_Mutation_p.Q215H	p.Q322H	NM_003705.4	NP_003696.2	O75746	CMC1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.216)		10	1003	-			322					B3KR64|Q96AM8	Missense_Mutation	SNP	ENST00000422440.2	37	c.966G>T	CCDS33327.1	.	.	.	.	.	.	.	.	.	.	c	17.41	3.381923	0.61845	.	.	ENSG00000115840	ENST00000422440;ENST00000392592	T;T	0.79845	-1.31;-1.28	5.47	4.59	0.56863	Mitochondrial carrier domain (1);	0.112377	0.64402	D	0.000006	D	0.82462	0.5042	M	0.85542	2.76	0.58432	D	0.999996	B;B	0.28552	0.215;0.086	B;B	0.28553	0.091;0.091	T	0.81756	-0.0787	10	0.52906	T	0.07	1.0886	14.4134	0.67132	0.0:0.9282:0.0:0.0718	.	215;322	B3KR64;O75746	.;CMC1_HUMAN	H	322;215	ENSP00000388658:Q322H;ENSP00000376371:Q215H	ENSP00000376371:Q215H	Q	-	3	2	SLC25A12	172379923	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.967000	0.49216	1.285000	0.44548	0.591000	0.81541	CAG		0.458	SLC25A12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259010.2	NM_003705		28	44	1	0	9.65021e-13	1	1.04556e-12	28	44					A	172671677	C	A	172671677	3	1	435	1	0	0	0	0	1	0	0	0	14474	912	32	5	1106	5	SLC25A12	2	172671677	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	808368	172671677	70527696	1365	22290											
HAT1	8520	broad.mit.edu	37	chr2	172822331	172822331	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacatgacatgtagaggcttTcgagaatatcatgaaaggct	14	10	11	6	1	1	4	1	2	0	2	2	6	1	4	0	2	0	3	0	2	4	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:172822331T>C	ENST00000264108.4	+	6	549	c.513T>C	c.(511-513)ttT>ttC	p.F171F	SLC25A12_ENST00000472748.1_Intron|HAT1_ENST00000392584.1_Silent_p.F86F	NM_003642.3	NP_003633.1	O14929	HAT1_HUMAN	histone acetyltransferase 1	171					chromatin organization (GO:0006325)|chromatin silencing at telomere (GO:0006348)|DNA packaging (GO:0006323)|DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|histone H4 acetylation (GO:0043967)|internal protein amino acid acetylation (GO:0006475)|response to nutrient (GO:0007584)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	H4 histone acetyltransferase activity (GO:0010485)|histone acetyltransferase activity (GO:0004402)			breast(1)|kidney(1)|large_intestine(5)|liver(2)|lung(8)|ovary(1)|prostate(1)	19			OV - Ovarian serous cystadenocarcinoma(117;0.216)			GTAGAGGCTTTCGAGAATATC	0.403																																						ENST00000264108.4																			0				breast(1)|kidney(1)|large_intestine(5)|liver(2)|lung(8)|ovary(1)|prostate(1)	19						c.(511-513)ttT>ttC		histone acetyltransferase 1							205	197	199					2																	172822331		2203	4300	6503	SO:0001819	synonymous_variant	8520				chromatin silencing at telomere|DNA packaging	cytoplasm|nuclear matrix|nucleoplasm	histone acetyltransferase activity|protein binding	g.chr2:172822331T>C	AF030424	CCDS2245.1	2q31.2-q33.1	2011-07-01			ENSG00000128708	ENSG00000128708	2.3.1.48	"Chromatin-modifying enzymes / K-acetyltransferases"	4821	protein-coding gene	gene with protein product		603053				9427644	Standard	NM_003642		Approved	KAT1	uc002uhi.3	O14929	OTTHUMG00000132282	ENST00000264108.4:c.513T>C	2.37:g.172822331T>C						HAT1_ENST00000392584.1_Silent_p.F86F|SLC25A12_ENST00000472748.1_Intron	p.F171F	NM_003642.3	NP_003633.1	O14929	HAT1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.216)		6	549	+			171					Q49A44|Q53QF0|Q53SU4|Q6P594|Q8WWB9	Silent	SNP	ENST00000264108.4	37	c.513T>C	CCDS2245.1																																																																																				0.403	HAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255377.1	NM_003642		21	173	0	0	0	1	0	21	173					C	172822331	T	C	172822331	2	2	435	1	0	0	0	0	0	0	0	1	6964	1780	62	4		4	HAT1	2	172822331	Silent	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	150654	172822331	70377042	1366	22291											
RAPGEF4	11069	broad.mit.edu	37	chr2	173852994	173852994	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcagtgaatgtagtcatttaCggcaaggtatatatatcttt	12	16	8	5	1	3	1	2	1	1	0	3	1	3	1	0	2	1	3	0	2	8	8	rs373138887		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:173852994C>T	ENST00000397081.3	+	13	1364	c.1221C>T	c.(1219-1221)taC>taT	p.Y407Y	RAPGEF4_ENST00000540783.1_Silent_p.Y254Y|RAPGEF4_ENST00000409036.1_Silent_p.Y407Y|RAPGEF4_ENST00000538974.1_Silent_p.Y236Y|RAPGEF4_ENST00000473043.1_3'UTR|RAPGEF4_ENST00000397087.3_Silent_p.Y263Y|RAPGEF4_ENST00000264111.6_Silent_p.Y406Y|RAPGEF4_ENST00000535187.1_Silent_p.Y187Y|RAPGEF4_ENST00000539331.1_Silent_p.Y254Y	NM_007023.3	NP_008954.2	Q8WZA2	RPGF4_HUMAN	Rap guanine nucleotide exchange factor (GEF) 4	407					blood coagulation (GO:0007596)|calcium ion-dependent exocytosis (GO:0017156)|cAMP-mediated signaling (GO:0019933)|energy reserve metabolic process (GO:0006112)|G-protein coupled receptor signaling pathway (GO:0007186)|insulin secretion (GO:0030073)|platelet activation (GO:0030168)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Ras GTPase activity (GO:0032320)|regulation of exocytosis (GO:0017157)|regulation of insulin secretion (GO:0050796)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	cAMP-dependent protein kinase complex (GO:0005952)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|cAMP-dependent protein kinase regulator activity (GO:0008603)|guanyl-nucleotide exchange factor activity (GO:0005085)|Ras GTPase binding (GO:0017016)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(14)|lung(13)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	47			OV - Ovarian serous cystadenocarcinoma(117;0.194)			TAGTCATTTACGGCAAGGTAT	0.348																																						ENST00000264111.6																			0				breast(1)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(14)|lung(13)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						c.(1216-1218)taC>taT		Rap guanine nucleotide exchange factor (GEF) 4		C	,	0,3624		0,0,1812	118	108	111		789,1221	-1.3	1	2		111	2,8164		0,2,4081	no	coding-synonymous,coding-synonymous	RAPGEF4	NM_001100397.1,NM_007023.3	,	0,2,5893	TT,TC,CC		0.0245,0.0,0.017	,	263/868,407/1012	173852994	2,11788	1812	4083	5895	SO:0001819	synonymous_variant	11069				blood coagulation|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|regulation of insulin secretion|regulation of protein phosphorylation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cAMP-dependent protein kinase complex|membrane fraction|plasma membrane	cAMP binding|cAMP-dependent protein kinase regulator activity|Ras GTPase binding|Ras guanyl-nucleotide exchange factor activity	g.chr2:173852994C>T	U78516	CCDS42775.1, CCDS42776.1, CCDS63060.1, CCDS63061.1, CCDS74604.1	2q31-q32	2008-02-05	2004-03-26		ENSG00000091428	ENSG00000091428			16626	protein-coding gene	gene with protein product	"cAMP-regulated guanine nucleotide exchange factor II", " exchange protein directly activated by cAMP 2"	606058	"RAP guanine-nucleotide-exchange factor (GEF) 4"			10777494, 9856955	Standard	NM_007023		Approved	cAMP-GEFII, CGEF2	uc002uhv.4	Q8WZA2	OTTHUMG00000133677	ENST00000397081.3:c.1221C>T	2.37:g.173852994C>T						RAPGEF4_ENST00000540783.1_Silent_p.Y254Y|RAPGEF4_ENST00000535187.1_Silent_p.Y187Y|RAPGEF4_ENST00000538974.1_Silent_p.Y236Y|RAPGEF4_ENST00000409036.1_Silent_p.Y407Y|RAPGEF4_ENST00000539331.1_Silent_p.Y254Y|RAPGEF4_ENST00000397081.3_Silent_p.Y407Y|RAPGEF4_ENST00000397087.3_Silent_p.Y263Y|RAPGEF4_ENST00000473043.1_3'UTR	p.Y406Y			Q8WZA2	RPGF4_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.194)		13	1405	+			407					B2R7R3|B7Z283|B7Z3T6|B7Z912|O95636|Q8IXK6|Q8TAA4	Silent	SNP	ENST00000397081.3	37	c.1218C>T	CCDS42775.1																																																																																				0.348	RAPGEF4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257864.2	NM_007023		18	54	0	0	0	1	0	18	54					T	173852994	C	T	173852994	2	4	435	1	0	0	0	0	0	0	0	1	13046	547	19	1		1	RAPGEF4	2	173852994	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	1030663	173852994	69346379	1367	22292											
OLA1	29789	broad.mit.edu	37	chr2	174945974	174945974	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccttaatgatctttggcaaaGcactgaaatcaaatgaaaca	17	10	6	8	0	2	3	1	3	1	0	2	3	2	3	1	1	2	2	1	1	5	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:174945974G>T	ENST00000409546.1	-	9	1562	c.932C>A	c.(931-933)gCt>gAt	p.A311D	OLA1_ENST00000344357.5_Missense_Mutation_p.A133D|OLA1_ENST00000284719.3_Missense_Mutation_p.A291D|OLA1_ENST00000428402.2_Intron|OLA1_ENST00000392560.2_5'UTR					Obg-like ATPase 1											breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	11						CTTTGGCAAAGCACTGAAATC	0.388																																						ENST00000284719.3																			0				breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	11						c.(871-873)gCt>gAt		Obg-like ATPase 1							65	57	60					2																	174945974		2203	4299	6502	SO:0001583	missense	29789				ATP catabolic process	cytoplasm	ATP binding|GTP binding|hydrolase activity|protein binding	g.chr2:174945974G>T		CCDS2255.1, CCDS42779.1	2q31.1	2014-06-24	2007-07-27	2007-07-27	ENSG00000138430	ENSG00000138430			28833	protein-coding gene	gene with protein product		611175	"GTP-binding protein 9 (putative)"	GTPBP9		17430889, 24486488	Standard	NM_013341		Approved	PTD004	uc002uih.3	Q9NTK5	OTTHUMG00000132335	ENST00000409546.1:c.932C>A	2.37:g.174945974G>T	ENSP00000386350:p.Ala311Asp					OLA1_ENST00000344357.5_Missense_Mutation_p.A133D|OLA1_ENST00000409546.1_Missense_Mutation_p.A311D|OLA1_ENST00000428402.2_Intron|OLA1_ENST00000392560.2_5'UTR	p.A291D	NM_013341.3	NP_037473.3	Q9NTK5	OLA1_HUMAN			9	1118	-			291						Missense_Mutation	SNP	ENST00000409546.1	37	c.872C>A		.	.	.	.	.	.	.	.	.	.	G	11.26	1.587643	0.28268	.	.	ENSG00000138430	ENST00000284719;ENST00000344357;ENST00000409546	T;T;T	0.16597	2.33;2.33;2.33	5.96	5.96	0.96718	Beta-grasp fold, ferredoxin-type (1);	0.204794	0.47093	D	0.000254	T	0.55893	0.1949	H	0.98027	4.13	0.58432	D	0.999999	P;P;P	0.50528	0.708;0.936;0.708	B;P;B	0.62435	0.319;0.902;0.319	T	0.70048	-0.4979	10	0.72032	D	0.01	.	13.5822	0.61909	0.0707:0.0:0.9293:0.0	.	291;133;291	D7EHM2;Q9NTK5-2;Q9NTK5	.;.;OLA1_HUMAN	D	291;133;311	ENSP00000284719:A291D;ENSP00000340167:A133D;ENSP00000386350:A311D	ENSP00000284719:A291D	A	-	2	0	OLA1	174654220	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.634000	0.61325	2.826000	0.97356	0.655000	0.94253	GCT		0.388	OLA1-003	PUTATIVE	not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000333877.1	NM_013341		31	42	1	0	1.08312e-15	1	1.18619e-15	31	42					T	174945974	G	T	174945974	3	4	435	1	0	0	0	0	1	0	0	0	10850	971	34	5	330	5	OLA1	2	174945974	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	1092980	174945974	68253399	1368	22293											
OLA1	29789	broad.mit.edu	37	chr2	175094087	175094087	+	De_novo_Start_OutOfFrame	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caaacctttcatctggcacaGgtactctgctctcattagga	10	12	7	12	0	4	0	2	0	3	0	5	1	4	1	1	3	3	3	1	3	3	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:175094087G>T	ENST00000344357.5	-	0	240				OLA1_ENST00000409546.1_Missense_Mutation_p.P85H|OLA1_ENST00000284719.3_Missense_Mutation_p.P65H|OLA1_ENST00000428402.2_Missense_Mutation_p.P65H	NM_001011708.1	NP_001011708.1			Obg-like ATPase 1											breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	11						ATCTGGCACAGGTACTCTGCT	0.378																																						ENST00000344357.5																			0				breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	11								Obg-like ATPase 1							84	81	82					2																	175094087		2203	4300	6503			29789				ATP catabolic process	cytoplasm	ATP binding|GTP binding|hydrolase activity|protein binding	g.chr2:175094087G>T		CCDS2255.1, CCDS42779.1	2q31.1	2014-06-24	2007-07-27	2007-07-27	ENSG00000138430	ENSG00000138430			28833	protein-coding gene	gene with protein product		611175	"GTP-binding protein 9 (putative)"	GTPBP9		17430889, 24486488	Standard	NM_013341		Approved	PTD004	uc002uih.3	Q9NTK5	OTTHUMG00000132335	ENST00000344357.5:c.-281C>A	2.37:g.175094087G>T						OLA1_ENST00000409546.1_Missense_Mutation_p.P85H|OLA1_ENST00000428402.2_Missense_Mutation_p.P65H|OLA1_ENST00000284719.3_Missense_Mutation_p.P65H		NM_001011708.1	NP_001011708.1	Q9NTK5	OLA1_HUMAN			0	240	-									Translation_Start_Site	SNP	ENST00000344357.5	37		CCDS42779.1	.	.	.	.	.	.	.	.	.	.	G	19.53	3.844046	0.71488	.	.	ENSG00000138430	ENST00000284719;ENST00000428402;ENST00000409546;ENST00000427472	T;T;T;T	0.17054	2.3;2.31;2.3;2.31	5.51	5.51	0.81932	GTP-binding domain, HSR1-related (1);	0.000000	0.85682	D	0.000000	T	0.52354	0.1729	M	0.90145	3.09	0.80722	D	1	B;D;D	0.76494	0.313;0.999;0.999	B;D;D	0.76071	0.127;0.987;0.987	T	0.60244	-0.7301	10	0.66056	D	0.02	.	19.7654	0.96337	0.0:0.0:1.0:0.0	.	65;65;65	Q9NTK5-3;D7EHM2;Q9NTK5	.;.;OLA1_HUMAN	H	65;65;85;65	ENSP00000284719:P65H;ENSP00000410385:P65H;ENSP00000386350:P85H;ENSP00000414568:P65H	ENSP00000284719:P65H	P	-	2	0	OLA1	174802333	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.751000	0.98889	2.750000	0.94351	0.655000	0.94253	CCT		0.378	OLA1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333876.2	NM_013341		16	31	1	0	2.5808e-16	1	2.83426e-16	16	31					T	175094087	G	T	175094087	1	4	435	1	0	1	0	0	0	0	0	0	10850	1000	35	5		5	OLA1	2	175094087	De_novo_Start_OutOfFrame	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	148113	175094087	68105286	1369	22294											
SCRN3	79634	broad.mit.edu	37	chr2	175265862	175265862	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcctgatagctgataggaaTgaagcctggattctggagac	11	11	12	7	0	1	4	0	3	1	1	2	7	2	6	2	3	2	1	2	3	4	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:175265862T>C	ENST00000272732.6	+	4	568	c.486T>C	c.(484-486)aaT>aaC	p.N162N	SCRN3_ENST00000409673.3_Silent_p.N155N	NM_001193528.1|NM_024583.4	NP_001180457.1|NP_078859.2	Q0VDG4	SCRN3_HUMAN	secernin 3	162							dipeptidase activity (GO:0016805)			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|urinary_tract(3)	13			OV - Ovarian serous cystadenocarcinoma(117;0.229)			CTGATAGGAATGAAGCCTGGA	0.388																																						ENST00000272732.6																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|urinary_tract(3)	13						c.(484-486)aaT>aaC		secernin 3							114	114	114					2																	175265862		2203	4300	6503	SO:0001819	synonymous_variant	79634				proteolysis		dipeptidase activity	g.chr2:175265862T>C	AF279776	CCDS2258.1, CCDS54420.1	2q31	2008-02-05			ENSG00000144306	ENSG00000144306			30382	protein-coding gene	gene with protein product		614967				12221138	Standard	NM_024583		Approved	FLJ23142	uc002uiq.3	Q0VDG4	OTTHUMG00000132332	ENST00000272732.6:c.486T>C	2.37:g.175265862T>C						SCRN3_ENST00000409673.3_Silent_p.N155N	p.N162N	NM_001193528.1|NM_024583.4	NP_001180457.1|NP_078859.2	Q0VDG4	SCRN3_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.229)		4	568	+			162					B4DI11|C9JPC1|D3DPE0|Q7L1C5|Q9H5R5	Silent	SNP	ENST00000272732.6	37	c.486T>C	CCDS2258.1																																																																																				0.388	SCRN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255451.2	NM_024583		17	32	0	0	0	1	0	17	32					C	175265862	T	C	175265862	2	2	435	1	0	0	0	0	0	0	0	1	13940	1461	51	4		4	SCRN3	2	175265862	Silent	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	171775	175265862	67933511	1370	22295											
ATF2	1386	broad.mit.edu	37	chr2	175939443	175939443	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgaggactgaagtggctacaGcttctgccttggaggttgaa	9	11	14	7	0	1	3	0	3	1	0	1	5	1	5	1	4	3	3	1	4	3	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:175939443G>A	ENST00000264110.2	-	14	1710	c.1412C>T	c.(1411-1413)gCt>gTt	p.A471V	ATF2_ENST00000409635.1_Missense_Mutation_p.A413V|ATF2_ENST00000392544.1_Missense_Mutation_p.A471V|ATF2_ENST00000392543.2_Missense_Mutation_p.A92V|ATF2_ENST00000409499.1_Missense_Mutation_p.A110V|ATF2_ENST00000345739.5_Missense_Mutation_p.A413V|ATF2_ENST00000487334.2_3'UTR|ATF2_ENST00000426833.3_Missense_Mutation_p.A453V|ATF2_ENST00000538946.1_3'UTR|ATF2_ENST00000409437.1_Missense_Mutation_p.A355V	NM_001256090.1|NM_001256091.1|NM_001880.3	NP_001243019.1|NP_001243020.1|NP_001871.2	P15336	ATF2_HUMAN	activating transcription factor 2	471					adipose tissue development (GO:0060612)|cellular response to DNA damage stimulus (GO:0006974)|chromatin organization (GO:0006325)|fat cell differentiation (GO:0045444)|histone acetylation (GO:0016573)|innate immune response (GO:0045087)|intra-S DNA damage checkpoint (GO:0031573)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|outflow tract morphogenesis (GO:0003151)|positive regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902110)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transforming growth factor beta2 production (GO:0032915)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|response to osmotic stress (GO:0006970)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription from RNA polymerase II promoter (GO:0006366)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|mitochondrial outer membrane (GO:0005741)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)	cAMP response element binding (GO:0035497)|cAMP response element binding protein binding (GO:0008140)|chromatin binding (GO:0003682)|histone acetyltransferase activity (GO:0004402)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(6)|pancreas(1)|skin(1)	17			OV - Ovarian serous cystadenocarcinoma(117;0.125)		Pseudoephedrine(DB00852)	AGTGGCTACAGCTTCTGCCTT	0.517																																					Pancreas(17;87 705 4534 15538 30988)	ENST00000264110.2																			0				breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(6)|pancreas(1)|skin(1)	17						c.(1411-1413)gCt>gTt		activating transcription factor 2							84	73	77					2																	175939443		2203	4300	6503	SO:0001583	missense	1386				innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	nucleoplasm	protein dimerization activity|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding	g.chr2:175939443G>A	X15875	CCDS2262.1, CCDS58737.1, CCDS58738.1, CCDS58739.1	2q32	2013-01-10			ENSG00000115966	ENSG00000115966		"basic leucine zipper proteins"	784	protein-coding gene	gene with protein product		123811	"cAMP responsive element binding protein 2"	CREB2		1833307, 1838349	Standard	NM_001880		Approved	TREB7, CRE-BP1, HB16	uc002ujl.4	P15336	OTTHUMG00000132424	ENST00000264110.2:c.1412C>T	2.37:g.175939443G>A	ENSP00000264110:p.Ala471Val					ATF2_ENST00000409499.1_Missense_Mutation_p.A110V|ATF2_ENST00000409635.1_Missense_Mutation_p.A413V|ATF2_ENST00000487334.2_3'UTR|ATF2_ENST00000538946.1_3'UTR|ATF2_ENST00000392543.2_Missense_Mutation_p.A92V|ATF2_ENST00000426833.3_Missense_Mutation_p.A453V|ATF2_ENST00000392544.1_Missense_Mutation_p.A471V|ATF2_ENST00000409437.1_Missense_Mutation_p.A355V|ATF2_ENST00000345739.5_Missense_Mutation_p.A413V	p.A471V	NM_001256090.1|NM_001256091.1|NM_001880.3	NP_001243019.1|NP_001243020.1|NP_001871.2	P15336	ATF2_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.125)		14	1710	-			471					A1L3Z2|A4D7U4|A4D7U5|A4D7V1|D3DPE9|G8JLM5|Q13000|Q3B7B7|Q4ZFU9|Q53RY2|Q8TAR1|Q96JT8	Missense_Mutation	SNP	ENST00000264110.2	37	c.1412C>T	CCDS2262.1	.	.	.	.	.	.	.	.	.	.	G	16.36	3.100714	0.56183	.	.	ENSG00000115966	ENST00000264110;ENST00000345739;ENST00000542046;ENST00000409437;ENST00000409635;ENST00000392544;ENST00000409499;ENST00000426833;ENST00000392543	T;T;T;T;T;T	0.79454	-1.27;0.31;-0.66;0.31;-1.27;-1.26	5.83	4.94	0.65067	.	0.237024	0.42682	N	0.000674	T	0.65322	0.2680	N	0.16656	0.425	0.80722	D	1	B;B;P;B	0.37663	0.02;0.056;0.604;0.005	B;B;B;B	0.38194	0.004;0.058;0.267;0.004	T	0.64071	-0.6493	10	0.27785	T	0.31	-10.5032	15.2126	0.73238	0.0681:0.0:0.9319:0.0	.	453;110;413;471	A4D7U4;Q96JT8;Q3B7B7;P15336	.;.;.;ATF2_HUMAN	V	471;413;448;355;413;471;110;453;92	ENSP00000264110:A471V;ENSP00000340576:A413V;ENSP00000386326:A355V;ENSP00000387093:A413V;ENSP00000376327:A471V;ENSP00000407911:A453V	ENSP00000264110:A471V	A	-	2	0	ATF2	175647689	1.000000	0.71417	0.995000	0.50966	0.988000	0.76386	5.537000	0.67186	1.447000	0.47661	0.650000	0.86243	GCT		0.517	ATF2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000255562.1	NM_001880		20	35	0	0	0	1	0	20	35					A	175939443	G	A	175939443	3	1	435	1	0	0	0	0	1	0	0	0	1080	971	34	3	109	3	ATF2	2	175939443	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	673581	175939443	67259930	1371	22296											
HOXD3	3232	broad.mit.edu	37	chr2	177036436	177036436	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaagatctggttccagaacCggcgcatgaagtacaagaag	14	7	11	9	2	2	4	1	1	1	3	3	4	3	4	2	2	2	3	2	2	6	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:177036436C>T	ENST00000468418.3	+	4	2823	c.733C>T	c.(733-735)Cgg>Tgg	p.R245W	HOXD3_ENST00000249440.3_Missense_Mutation_p.R245W|HOXD-AS1_ENST00000416928.2_RNA|HOXD3_ENST00000410016.1_Missense_Mutation_p.R245W			P31249	HXD3_HUMAN	homeobox D3	245					anterior/posterior pattern specification (GO:0009952)|cartilage development (GO:0051216)|cell-matrix adhesion (GO:0007160)|embryonic skeletal system morphogenesis (GO:0048704)|Notch signaling pathway (GO:0007219)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron differentiation (GO:0045666)|thyroid gland development (GO:0030878)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(11)|prostate(1)|upper_aerodigestive_tract(2)	23			OV - Ovarian serous cystadenocarcinoma(117;0.00569)|Epithelial(96;0.0864)|all cancers(119;0.226)	Colorectal(32;0.247)		GTTCCAGAACCGGCGCATGAA	0.637																																						ENST00000468418.3																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(11)|prostate(1)|upper_aerodigestive_tract(2)	23						c.(733-735)Cgg>Tgg		homeobox D3							78	77	77					2																	177036436		2203	4300	6503	SO:0001583	missense	3232				anterior/posterior pattern formation|cartilage development|cell-matrix adhesion|embryonic skeletal system morphogenesis|Notch signaling pathway|positive regulation of gene expression|positive regulation of neuron differentiation|thyroid gland development		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:177036436C>T		CCDS2270.1	2q31.1	2011-06-20	2005-12-22		ENSG00000128652	ENSG00000128652		"Homeoboxes / ANTP class : HOXL subclass"	5137	protein-coding gene	gene with protein product		142980	"homeo box D3"	HOX4A, HOX4, HOX1D		1973146, 1358459	Standard	NM_006898		Approved		uc002ukt.1	P31249	OTTHUMG00000132517	ENST00000468418.3:c.733C>T	2.37:g.177036436C>T	ENSP00000424734:p.Arg245Trp					HOXD3_ENST00000249440.3_Missense_Mutation_p.R245W|HOXD3_ENST00000410016.1_Missense_Mutation_p.R245W	p.R245W			P31249	HXD3_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00569)|Epithelial(96;0.0864)|all cancers(119;0.226)	Colorectal(32;0.247)	4	2823	+			245					Q99955|Q9BSC5	Missense_Mutation	SNP	ENST00000468418.3	37	c.733C>T	CCDS2270.1	.	.	.	.	.	.	.	.	.	.	C	17.50	3.404117	0.62288	.	.	ENSG00000128652	ENST00000468418;ENST00000410016;ENST00000249440	D;D;D	0.97831	-4.56;-4.56;-4.56	5.23	2.04	0.26737	Homeobox, eukaryotic (1);Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);Homeobox, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.99321	0.9762	H	0.99454	4.575	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.98745	1.0718	10	0.87932	D	0	.	15.6185	0.76787	0.3072:0.6928:0.0:0.0	.	245	P31249	HXD3_HUMAN	W	245	ENSP00000424734:R245W;ENSP00000386498:R245W;ENSP00000249440:R245W	ENSP00000249440:R245W	R	+	1	2	HOXD3	176744682	0.986000	0.35501	0.999000	0.59377	0.997000	0.91878	0.306000	0.19279	0.047000	0.15862	0.462000	0.41574	CGG		0.637	HOXD3-005	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334246.4			21	55	0	0	0	1	0	21	55					T	177036436	C	T	177036436	3	4	435	1	0	0	0	0	1	0	0	0	7323	643	23	2	739	2	HOXD3	2	177036436	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	1096993	177036436	66162937	1372	22297											
HOXD3	3232	broad.mit.edu	37	chr2	177036685	177036685	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gctgcctgccacaacagaagCgctacgcagcgccggagttc	9	5	12	15	4	0	1	0	0	0	1	1	2	0	2	3	1	6	4	3	1	3	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:177036685C>T	ENST00000468418.3	+	4	3072	c.982C>T	c.(982-984)Cgc>Tgc	p.R328C	HOXD3_ENST00000249440.3_Missense_Mutation_p.R328C|HOXD-AS1_ENST00000416928.2_RNA|HOXD3_ENST00000410016.1_Missense_Mutation_p.R328C			P31249	HXD3_HUMAN	homeobox D3	328					anterior/posterior pattern specification (GO:0009952)|cartilage development (GO:0051216)|cell-matrix adhesion (GO:0007160)|embryonic skeletal system morphogenesis (GO:0048704)|Notch signaling pathway (GO:0007219)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron differentiation (GO:0045666)|thyroid gland development (GO:0030878)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(11)|prostate(1)|upper_aerodigestive_tract(2)	23			OV - Ovarian serous cystadenocarcinoma(117;0.00569)|Epithelial(96;0.0864)|all cancers(119;0.226)	Colorectal(32;0.247)		ACAACAGAAGCGCTACGCAGC	0.682																																						ENST00000468418.3																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(11)|prostate(1)|upper_aerodigestive_tract(2)	23						c.(982-984)Cgc>Tgc		homeobox D3							13	14	14					2																	177036685		2181	4270	6451	SO:0001583	missense	3232				anterior/posterior pattern formation|cartilage development|cell-matrix adhesion|embryonic skeletal system morphogenesis|Notch signaling pathway|positive regulation of gene expression|positive regulation of neuron differentiation|thyroid gland development		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:177036685C>T		CCDS2270.1	2q31.1	2011-06-20	2005-12-22		ENSG00000128652	ENSG00000128652		"Homeoboxes / ANTP class : HOXL subclass"	5137	protein-coding gene	gene with protein product		142980	"homeo box D3"	HOX4A, HOX4, HOX1D		1973146, 1358459	Standard	NM_006898		Approved		uc002ukt.1	P31249	OTTHUMG00000132517	ENST00000468418.3:c.982C>T	2.37:g.177036685C>T	ENSP00000424734:p.Arg328Cys					HOXD3_ENST00000249440.3_Missense_Mutation_p.R328C|HOXD3_ENST00000410016.1_Missense_Mutation_p.R328C	p.R328C			P31249	HXD3_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00569)|Epithelial(96;0.0864)|all cancers(119;0.226)	Colorectal(32;0.247)	4	3072	+			328					Q99955|Q9BSC5	Missense_Mutation	SNP	ENST00000468418.3	37	c.982C>T	CCDS2270.1	.	.	.	.	.	.	.	.	.	.	C	18.32	3.598467	0.66332	.	.	ENSG00000128652	ENST00000468418;ENST00000410016;ENST00000249440	D;D;D	0.90197	-2.63;-2.63;-2.63	5.74	4.86	0.63082	.	0.000000	0.85682	D	0.000000	D	0.89750	0.6805	M	0.83953	2.67	0.80722	D	1	B	0.13594	0.008	B	0.08055	0.003	D	0.86224	0.1633	10	0.41790	T	0.15	.	9.5262	0.39165	0.142:0.7864:0.0:0.0716	.	328	P31249	HXD3_HUMAN	C	328	ENSP00000424734:R328C;ENSP00000386498:R328C;ENSP00000249440:R328C	ENSP00000249440:R328C	R	+	1	0	HOXD3	176744931	1.000000	0.71417	1.000000	0.80357	0.926000	0.56050	1.493000	0.35605	1.419000	0.47118	0.561000	0.74099	CGC		0.682	HOXD3-005	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334246.4			6	4	0	0	0	1	0	6	4					T	177036685	C	T	177036685	3	4	435	1	0	0	0	0	1	0	0	0	7323	768	27	1	988	1	HOXD3	2	177036685	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	249	177036685	66162688	1373	22298											
HOXD3	3232	broad.mit.edu	37	chr2	177036997	177036997	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggctcccaaactgacgcatCtgtagcggccgccgccagcc	8	5	11	17	4	1	1	0	1	1	0	2	1	2	1	5	2	3	3	5	2	2	1	rs572940906		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:177036997C>A	ENST00000468418.3	+	4	3384	c.1294C>A	c.(1294-1296)Ctg>Atg	p.L432M	HOXD3_ENST00000249440.3_Missense_Mutation_p.L432M|HOXD-AS1_ENST00000416928.2_RNA|HOXD3_ENST00000410016.1_Missense_Mutation_p.L432M			P31249	HXD3_HUMAN	homeobox D3	432					anterior/posterior pattern specification (GO:0009952)|cartilage development (GO:0051216)|cell-matrix adhesion (GO:0007160)|embryonic skeletal system morphogenesis (GO:0048704)|Notch signaling pathway (GO:0007219)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron differentiation (GO:0045666)|thyroid gland development (GO:0030878)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(11)|prostate(1)|upper_aerodigestive_tract(2)	23			OV - Ovarian serous cystadenocarcinoma(117;0.00569)|Epithelial(96;0.0864)|all cancers(119;0.226)	Colorectal(32;0.247)		ACTGACGCATCTGTAGCGGCC	0.647													C|||	1	0.000199681	0	0	5008	,	,		14490	0		0.001	False		,,,				2504	0					ENST00000468418.3																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(11)|prostate(1)|upper_aerodigestive_tract(2)	23						c.(1294-1296)Ctg>Atg		homeobox D3							27	32	30					2																	177036997		2203	4300	6503	SO:0001583	missense	3232				anterior/posterior pattern formation|cartilage development|cell-matrix adhesion|embryonic skeletal system morphogenesis|Notch signaling pathway|positive regulation of gene expression|positive regulation of neuron differentiation|thyroid gland development		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:177036997C>A		CCDS2270.1	2q31.1	2011-06-20	2005-12-22		ENSG00000128652	ENSG00000128652		"Homeoboxes / ANTP class : HOXL subclass"	5137	protein-coding gene	gene with protein product		142980	"homeo box D3"	HOX4A, HOX4, HOX1D		1973146, 1358459	Standard	NM_006898		Approved		uc002ukt.1	P31249	OTTHUMG00000132517	ENST00000468418.3:c.1294C>A	2.37:g.177036997C>A	ENSP00000424734:p.Leu432Met					HOXD3_ENST00000249440.3_Missense_Mutation_p.L432M|HOXD3_ENST00000410016.1_Missense_Mutation_p.L432M	p.L432M			P31249	HXD3_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00569)|Epithelial(96;0.0864)|all cancers(119;0.226)	Colorectal(32;0.247)	4	3384	+			432					Q99955|Q9BSC5	Missense_Mutation	SNP	ENST00000468418.3	37	c.1294C>A	CCDS2270.1	.	.	.	.	.	.	.	.	.	.	C	18.89	3.720142	0.68844	.	.	ENSG00000128652	ENST00000468418;ENST00000410016;ENST00000249440	D;D;D	0.96232	-3.95;-3.95;-3.95	4.95	4.95	0.65309	.	0.000000	0.64402	D	0.000001	D	0.97999	0.9341	M	0.78049	2.395	0.50632	D	0.999887	D	0.71674	0.998	D	0.77557	0.99	D	0.98844	1.0756	10	0.87932	D	0	.	18.3539	0.90351	0.0:1.0:0.0:0.0	.	432	P31249	HXD3_HUMAN	M	432	ENSP00000424734:L432M;ENSP00000386498:L432M;ENSP00000249440:L432M	ENSP00000249440:L432M	L	+	1	2	HOXD3	176745243	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	4.698000	0.61789	2.576000	0.86940	0.491000	0.48974	CTG		0.647	HOXD3-005	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334246.4			6	14	1	0	0.0293803	1	0.0295506	6	14					A	177036997	C	A	177036997	3	1	435	1	0	0	0	0	1	0	0	0	7323	912	32	5	1300	5	HOXD3	2	177036997	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	312	177036997	66162376	1374	22299											
NFE2L2	4780	broad.mit.edu	37	chr2	178096565	178096565	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcttctgtggagaggatgcTgctgaaggaatcctcaaaag	11	10	13	7	0	3	2	1	1	2	1	4	5	4	4	1	3	2	2	1	3	4	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:178096565T>C	ENST00000397062.3	-	5	1320	c.766A>G	c.(766-768)Agc>Ggc	p.S256G	NFE2L2_ENST00000446151.2_Missense_Mutation_p.S233G|NFE2L2_ENST00000464747.1_Missense_Mutation_p.S240G|NFE2L2_ENST00000397063.4_Missense_Mutation_p.S240G	NM_006164.4	NP_006155.2	Q16236	NF2L2_HUMAN	nuclear factor, erythroid 2-like 2	256					cellular response to hydrogen peroxide (GO:0070301)|cellular response to laminar fluid shear stress (GO:0071499)|cellular response to tumor necrosis factor (GO:0071356)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|positive regulation of blood coagulation (GO:0030194)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to stress (GO:0036003)|proteasomal ubiquitin-independent protein catabolic process (GO:0010499)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination (GO:0016567)|regulation of embryonic development (GO:0045995)|regulation of removal of superoxide radicals (GO:2000121)|transcription from RNA polymerase II promoter (GO:0006366)	centrosome (GO:0005813)|chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|protein domain specific binding (GO:0019904)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|cervix(4)|endometrium(14)|kidney(5)|large_intestine(4)|liver(13)|lung(71)|oesophagus(29)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	158			Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935)			GAGAGGATGCTGCTGAAGGAA	0.373			Mis		"NSCLC, HNSCC"					HNSCC(56;0.16)																												ENST00000397062.3				Dom	yes		2	2q31	4780	Mis	nuclear factor (erythroid-derived 2)-like 2 (NRF2)			E			"NSCLC, HNSCC"		0				central_nervous_system(1)|cervix(4)|endometrium(14)|kidney(5)|large_intestine(4)|liver(13)|lung(71)|oesophagus(29)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	158						c.(766-768)Agc>Ggc		nuclear factor, erythroid 2-like 2							119	108	111					2																	178096565		1902	4139	6041	SO:0001583	missense	4780				transcription from RNA polymerase II promoter	centrosome|cytosol|nucleus|plasma membrane	protein dimerization activity|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:178096565T>C		CCDS42782.1, CCDS46457.1, CCDS46458.1	2q31	2013-08-23	2013-08-23		ENSG00000116044	ENSG00000116044		"basic leucine zipper proteins"	7782	protein-coding gene	gene with protein product	"NF-E2-related factor 2"	600492	"nuclear factor (erythroid-derived 2)-like 2"			7937919	Standard	NM_006164		Approved	NRF2	uc002ulh.5	Q16236	OTTHUMG00000133620	ENST00000397062.3:c.766A>G	2.37:g.178096565T>C	ENSP00000380252:p.Ser256Gly	HNSCC(56;0.16)				NFE2L2_ENST00000397063.4_Missense_Mutation_p.S240G|NFE2L2_ENST00000446151.2_Missense_Mutation_p.S233G|NFE2L2_ENST00000464747.1_Missense_Mutation_p.S240G	p.S256G	NM_006164.4	NP_006155.2	Q16236	NF2L2_HUMAN	Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935)		5	1320	-			256					B2RBU2|B4E338|E9PGJ7|Q53RW6|Q59HH2|Q96F71	Missense_Mutation	SNP	ENST00000397062.3	37	c.766A>G	CCDS42782.1	.	.	.	.	.	.	.	.	.	.	T	16.55	3.154277	0.57259	.	.	ENSG00000116044	ENST00000397063;ENST00000397062;ENST00000446151;ENST00000448782;ENST00000430047	T;T;T;T;T	0.52526	1.98;1.98;1.99;1.65;0.66	6.17	5.02	0.67125	.	0.345512	0.40469	N	0.001097	T	0.47097	0.1427	M	0.75264	2.295	0.80722	D	1	B;B	0.11235	0.004;0.004	B;B	0.10450	0.005;0.005	T	0.41034	-0.9531	10	0.38643	T	0.18	.	9.7035	0.40200	0.0:0.1845:0.0:0.8155	.	233;256	E9PGJ7;Q16236	.;NF2L2_HUMAN	G	240;256;233;240;53	ENSP00000380253:S240G;ENSP00000380252:S256G;ENSP00000411575:S233G;ENSP00000400073:S240G;ENSP00000391291:S53G	ENSP00000380252:S256G	S	-	1	0	NFE2L2	177804811	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.814000	0.48010	1.160000	0.42584	0.533000	0.62120	AGC		0.373	NFE2L2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000257752.4	NM_006164		27	42	0	0	0	1	0	27	42					C	178096565	T	C	178096565	3	2	435	1	0	0	0	0	1	0	0	0	10368	1580	55	4	1055	4	NFE2L2	2	178096565	Missense_Mutation	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	1059568	178096565	65102808	1375	22300											
AGPS	8540	broad.mit.edu	37	chr2	178357886	178357886	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tttaaaacagagatgtgctcCggcatctattcgcctcatgg	10	12	9	10	2	2	1	1	0	1	1	4	2	3	1	2	2	2	2	2	2	3	4	rs144444120		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:178357886C>T	ENST00000264167.4	+	12	1390	c.1244C>T	c.(1243-1245)cCg>cTg	p.P415L	AGPS_ENST00000409888.1_Intron	NM_003659.3	NP_003650.1	O00116	ADAS_HUMAN	alkylglycerone phosphate synthase	415					cellular lipid metabolic process (GO:0044255)|ether lipid biosynthetic process (GO:0008611)|lipid biosynthetic process (GO:0008610)|small molecule metabolic process (GO:0044281)	intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	alkylglycerone-phosphate synthase activity (GO:0008609)|FAD binding (GO:0071949)|UDP-N-acetylmuramate dehydrogenase activity (GO:0008762)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)|skin(1)	32			OV - Ovarian serous cystadenocarcinoma(117;0.0018)|Epithelial(96;0.00919)|all cancers(119;0.0358)			AGATGTGCTCCGGCATCTATT	0.308																																						ENST00000264167.4																			0				breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)|skin(1)	32						c.(1243-1245)cCg>cTg		alkylglycerone phosphate synthase		C	LEU/PRO	1,4405	2.1+/-5.4	0,1,2202	81	83	82		1244	5.7	1	2	dbSNP_134	82	0,8600		0,0,4300	no	missense	AGPS	NM_003659.3	98	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	possibly-damaging	415/659	178357886	1,13005	2203	4300	6503	SO:0001583	missense	8540				ether lipid biosynthetic process	peroxisomal matrix|peroxisomal membrane|plasma membrane	alkylglycerone-phosphate synthase activity|flavin adenine dinucleotide binding|oxidoreductase activity	g.chr2:178357886C>T	Y09443	CCDS2275.1	2q	2008-02-05			ENSG00000018510	ENSG00000018510	2.5.1.26		327	protein-coding gene	gene with protein product		603051				9187299, 9553082	Standard	NM_003659		Approved	ADHAPS, ADAS, ALDHPSY, ADPS, ADAP-S	uc002ull.2	O00116	OTTHUMG00000132530	ENST00000264167.4:c.1244C>T	2.37:g.178357886C>T	ENSP00000264167:p.Pro415Leu					AGPS_ENST00000409888.1_Intron	p.P415L	NM_003659.3	NP_003650.1	O00116	ADAS_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0018)|Epithelial(96;0.00919)|all cancers(119;0.0358)		12	1390	+			415					A5D8U9|Q2TU35	Missense_Mutation	SNP	ENST00000264167.4	37	c.1244C>T	CCDS2275.1	.	.	.	.	.	.	.	.	.	.	C	28.8	4.950502	0.92660	2.27E-4	0.0	ENSG00000018510	ENST00000264167;ENST00000536686	D	0.86956	-2.19	5.66	5.66	0.87406	FAD-linked oxidase-like, C-terminal (1);FAD-linked oxidase, C-terminal (1);	0.049091	0.85682	D	0.000000	D	0.90549	0.7038	M	0.67953	2.075	0.80722	D	1	D	0.54964	0.969	P	0.51297	0.665	D	0.91086	0.4903	10	0.66056	D	0.02	.	19.7259	0.96164	0.0:1.0:0.0:0.0	.	415	O00116	ADAS_HUMAN	L	415;285	ENSP00000264167:P415L	ENSP00000264167:P415L	P	+	2	0	AGPS	178066132	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.824000	0.75288	2.664000	0.90586	0.650000	0.86243	CCG		0.308	AGPS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255730.2			21	31	0	0	0	1	0	21	31					T	178357886	C	T	178357886	3	4	435	1	0	0	0	0	1	0	0	0	394	652	23	2	1290	2	AGPS	2	178357886	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	261321	178357886	64841487	1376	22301											
TTC30B	150737	broad.mit.edu	37	chr2	178415725	178415725	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttttctaacaaggacaggaaGcatcttttggcataatacca	14	12	7	8	0	2	0	0	0	2	0	2	2	2	2	1	3	3	2	1	3	5	7			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:178415725G>T	ENST00000408939.3	-	1	2017	c.1767C>A	c.(1765-1767)tgC>tgA	p.C589*		NM_152517.2	NP_689730.2	Q8N4P2	TT30B_HUMAN	tetratricopeptide repeat domain 30B	589					cilium assembly (GO:0042384)|intraciliary transport (GO:0042073)	cilium (GO:0005929)|intraciliary transport particle B (GO:0030992)				cervix(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|urinary_tract(1)	23			OV - Ovarian serous cystadenocarcinoma(117;0.00151)|Epithelial(96;0.00931)|all cancers(119;0.0362)			AGGACAGGAAGCATCTTTTGG	0.378																																						ENST00000408939.2																			0				cervix(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|urinary_tract(1)	23						c.(1765-1767)tgC>tgA		tetratricopeptide repeat domain 30B							170	172	171					2																	178415725		2203	4300	6503	SO:0001587	stop_gained	150737				cell projection organization	cilium	binding	g.chr2:178415725G>T	AK055552	CCDS42784.1	2q31.2	2014-02-21			ENSG00000196659	ENSG00000196659		"Tetratricopeptide (TTC) repeat domain containing", "Intraflagellar transport homologs"	26425	protein-coding gene	gene with protein product						12477932	Standard	NM_152517		Approved	FLJ30990, fleer, IFT70	uc002uln.3	Q8N4P2	OTTHUMG00000154166	ENST00000408939.3:c.1767C>A	2.37:g.178415725G>T	ENSP00000386181:p.Cys589*						p.C589*	NM_152517.2	NP_689730.2	Q8N4P2	TT30B_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00151)|Epithelial(96;0.00931)|all cancers(119;0.0362)		1	2017	-			589					Q63HQ1|Q96NE6	Nonsense_Mutation	SNP	ENST00000408939.3	37	c.1767C>A	CCDS42784.1	.	.	.	.	.	.	.	.	.	.	G	36	5.609061	0.96637	.	.	ENSG00000196659	ENST00000500357;ENST00000408939	.	.	.	4.7	-1.75	0.08031	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.4275	0.50020	0.5844:0.0:0.4156:0.0	.	.	.	.	X	542;589	.	ENSP00000386181:C589X	C	-	3	2	TTC30B	178123971	1.000000	0.71417	0.984000	0.44739	0.970000	0.65996	0.950000	0.29122	-0.490000	0.06707	-0.302000	0.09304	TGC		0.378	TTC30B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334193.2	NM_152517		25	132	1	0	5.61819e-17	1	6.17723e-17	25	132					T	178415725	G	T	178415725	4	4	435	1	0	0	0	0	0	1	0	0	16696	963	34	5	234	5	TTC30B	2	178415725	Nonsense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	57839	178415725	64783648	1377	22302											
TTC30B	150737	broad.mit.edu	37	chr2	178416380	178416380	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	taatgaaagcctcttcaggaGctgtctggcaagtgatcaca	12	10	10	9	0	4	2	2	2	2	0	4	3	4	3	1	2	2	2	1	2	3	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:178416380G>A	ENST00000408939.3	-	1	1362	c.1112C>T	c.(1111-1113)gCt>gTt	p.A371V		NM_152517.2	NP_689730.2	Q8N4P2	TT30B_HUMAN	tetratricopeptide repeat domain 30B	371					cilium assembly (GO:0042384)|intraciliary transport (GO:0042073)	cilium (GO:0005929)|intraciliary transport particle B (GO:0030992)				cervix(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|urinary_tract(1)	23			OV - Ovarian serous cystadenocarcinoma(117;0.00151)|Epithelial(96;0.00931)|all cancers(119;0.0362)			CTCTTCAGGAGCTGTCTGGCA	0.473																																						ENST00000408939.2																			0				cervix(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|urinary_tract(1)	23						c.(1111-1113)gCt>gTt		tetratricopeptide repeat domain 30B							117	125	122					2																	178416380		2203	4300	6503	SO:0001583	missense	150737				cell projection organization	cilium	binding	g.chr2:178416380G>A	AK055552	CCDS42784.1	2q31.2	2014-02-21			ENSG00000196659	ENSG00000196659		"Tetratricopeptide (TTC) repeat domain containing", "Intraflagellar transport homologs"	26425	protein-coding gene	gene with protein product						12477932	Standard	NM_152517		Approved	FLJ30990, fleer, IFT70	uc002uln.3	Q8N4P2	OTTHUMG00000154166	ENST00000408939.3:c.1112C>T	2.37:g.178416380G>A	ENSP00000386181:p.Ala371Val						p.A371V	NM_152517.2	NP_689730.2	Q8N4P2	TT30B_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00151)|Epithelial(96;0.00931)|all cancers(119;0.0362)		1	1362	-			371					Q63HQ1|Q96NE6	Missense_Mutation	SNP	ENST00000408939.3	37	c.1112C>T	CCDS42784.1	.	.	.	.	.	.	.	.	.	.	G	18.03	3.532916	0.64972	.	.	ENSG00000196659	ENST00000500357;ENST00000408939	T	0.19250	2.16	4.77	4.77	0.60923	.	0.046083	0.85682	D	0.000000	T	0.30727	0.0774	M	0.71581	2.175	0.80722	D	1	P	0.41748	0.761	B	0.41332	0.354	T	0.20273	-1.0280	10	0.62326	D	0.03	.	18.3267	0.90256	0.0:0.0:1.0:0.0	.	371	Q8N4P2	TT30B_HUMAN	V	324;371	ENSP00000386181:A371V	ENSP00000386181:A371V	A	-	2	0	TTC30B	178124626	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	8.904000	0.92590	2.628000	0.89032	0.655000	0.94253	GCT		0.473	TTC30B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334193.2	NM_152517		42	52	0	0	0	1	0	42	52					A	178416380	G	A	178416380	3	1	435	1	0	0	0	0	1	0	0	0	16696	971	34	3	889	3	TTC30B	2	178416380	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	655	178416380	64782993	1378	22303											
OSBPL6	114880	broad.mit.edu	37	chr2	179251853	179251853	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcctgttggaacactgaatGtcatgcttccaaagtaggtg	10	12	11	8	0	1	1	1	1	0	0	2	2	2	2	2	2	3	3	2	2	4	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:179251853G>A	ENST00000190611.4	+	20	2519	c.2143G>A	c.(2143-2145)Gtc>Atc	p.V715I	OSBPL6_ENST00000409631.1_Missense_Mutation_p.V679I|OSBPL6_ENST00000392505.2_Missense_Mutation_p.V740I|OSBPL6_ENST00000359685.3_Missense_Mutation_p.V679I|OSBPL6_ENST00000409045.3_Missense_Mutation_p.V684I|OSBPL6_ENST00000315022.2_Missense_Mutation_p.V719I	NM_032523.3	NP_115912.1	Q9BZF3	OSBL6_HUMAN	oxysterol binding protein-like 6	715					lipid transport (GO:0006869)	cytosol (GO:0005829)|nuclear membrane (GO:0031965)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(18)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00578)|Epithelial(96;0.00847)|all cancers(119;0.0335)			AACACTGAATGTCATGCTTCC	0.408																																						ENST00000190611.4																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(18)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	46						c.(2143-2145)Gtc>Atc		oxysterol binding protein-like 6							118	104	109					2																	179251853		2203	4300	6503	SO:0001583	missense	114880				lipid transport		lipid binding	g.chr2:179251853G>A	AF392448	CCDS2277.1, CCDS2278.1, CCDS56150.1, CCDS56151.1, CCDS56152.1	2q32.1	2008-05-27			ENSG00000079156	ENSG00000079156		"Oxysterol binding proteins"	16388	protein-coding gene	gene with protein product	"OSBP-related protein 6"	606734				11483621	Standard	NM_001201480		Approved	ORP6	uc002uly.3	Q9BZF3	OTTHUMG00000132579	ENST00000190611.4:c.2143G>A	2.37:g.179251853G>A	ENSP00000190611:p.Val715Ile					OSBPL6_ENST00000315022.2_Missense_Mutation_p.V719I|OSBPL6_ENST00000409045.3_Missense_Mutation_p.V684I|OSBPL6_ENST00000359685.3_Missense_Mutation_p.V679I|OSBPL6_ENST00000392505.2_Missense_Mutation_p.V740I|OSBPL6_ENST00000409631.1_Missense_Mutation_p.V679I	p.V715I	NM_032523.3	NP_115912.1	Q9BZF3	OSBL6_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00578)|Epithelial(96;0.00847)|all cancers(119;0.0335)		20	2519	+			715					B4DTW1|C4AMC0|C4AME4|D3DPF6|D3DPF7|Q4ZG68|Q53T68|Q59H61|Q7Z4Q1|Q86V84|Q8N9T0|Q96SR1	Missense_Mutation	SNP	ENST00000190611.4	37	c.2143G>A	CCDS2277.1	.	.	.	.	.	.	.	.	.	.	G	17.48	3.400059	0.62177	.	.	ENSG00000079156	ENST00000392505;ENST00000359685;ENST00000409045;ENST00000190611;ENST00000409631;ENST00000315022	T;T;T;T;T;T	0.30714	1.52;1.52;1.52;1.52;1.52;1.52	5.67	5.67	0.87782	.	0.108387	0.64402	D	0.000008	T	0.45796	0.1360	L	0.53780	1.695	0.54753	D	0.999985	P;B;B;B;B	0.39094	0.659;0.02;0.094;0.447;0.036	P;B;B;B;B	0.49332	0.607;0.031;0.12;0.216;0.074	T	0.10086	-1.0645	10	0.40728	T	0.16	-8.1627	20.1421	0.98061	0.0:0.0:1.0:0.0	.	684;719;679;740;715	Q9BZF3-4;Q9BZF3-3;Q9BZF3-2;Q9BZF3-5;Q9BZF3	.;.;.;.;OSBL6_HUMAN	I	740;679;684;715;679;719	ENSP00000376293:V740I;ENSP00000352713:V679I;ENSP00000387248:V684I;ENSP00000190611:V715I;ENSP00000386885:V679I;ENSP00000318723:V719I	ENSP00000190611:V715I	V	+	1	0	OSBPL6	178960099	1.000000	0.71417	1.000000	0.80357	0.925000	0.55904	6.320000	0.72876	2.836000	0.97738	0.655000	0.94253	GTC		0.408	OSBPL6-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000334393.2	NM_032523		13	23	0	0	0	1	0	13	23					A	179251853	G	A	179251853	3	1	435	1	0	0	0	0	1	0	0	0	11281	1377	48	3	2335	3	OSBPL6	2	179251853	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	835473	179251853	63947520	1379	22304											
TTN	7273	broad.mit.edu	37	chr2	179400468	179400468	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctttctgccaggtgatcacaGgatctggtttgccactgaaa	9	12	10	10	0	3	2	1	2	2	0	3	3	3	3	2	3	2	1	2	3	1	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:179400468G>T	ENST00000591111.1	-	308	96175	c.95951C>A	c.(95950-95952)cCt>cAt	p.P31984H	TTN-AS1_ENST00000585487.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.P31057H|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.P24685H|TTN_ENST00000460472.2_Missense_Mutation_p.P24560H|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000415561.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.P33625H|TTN_ENST00000342175.6_Missense_Mutation_p.P24752H|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589391.1_RNA			Q8WZ42	TITIN_HUMAN	titin	31984	Ig-like 142.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GGTGATCACAGGATCTGGTTT	0.448																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(100873-100875)cCt>cAt		titin							115	114	114					2																	179400468		1965	4160	6125	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179400468G>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.95951C>A	2.37:g.179400468G>T	ENSP00000465570:p.Pro31984His					TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.P24752H|TTN_ENST00000591111.1_Missense_Mutation_p.P31984H|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.P24560H|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.P31057H|TTN_ENST00000359218.5_Missense_Mutation_p.P24685H|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000588804.1_RNA	p.P33625H	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		358	101098	-			31984					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.100874C>A		.	.	.	.	.	.	.	.	.	.	G	16.69	3.192797	0.58017	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.73681	-0.77;-0.77;-0.77;-0.77	5.3	5.3	0.74995	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.90528	0.7032	H	0.94620	3.56	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	D	0.92831	0.6280	9	0.87932	D	0	.	19.319	0.94229	0.0:0.0:1.0:0.0	.	24560;24685;24752;31984	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	H	31057;24560;24752;24685;24557	ENSP00000343764:P31057H;ENSP00000434586:P24560H;ENSP00000340554:P24752H;ENSP00000352154:P24685H	ENSP00000340554:P24752H	P	-	2	0	TTN	179108714	1.000000	0.71417	0.998000	0.56505	0.995000	0.86356	9.813000	0.99286	2.640000	0.89533	0.563000	0.77884	CCT		0.448	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		25	41	1	0	5.49717e-05	1	5.64882e-05	25	41					T	179400468	G	T	179400468	3	4	435	1	0	0	0	0	1	0	0	0	16732	1000	35	5	7125	5	TTN	2	179400468	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	148615	179400468	63798905	1380	22305											
TTN	7273	broad.mit.edu	37	chr2	179401677	179401677	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtactcaccaaatggactctTaatgatcacaactgaggaca	15	9	7	10	0	3	2	2	2	1	0	3	4	3	4	1	2	2	1	1	2	4	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:179401677T>C	ENST00000591111.1	-	306	95460	c.95236A>G	c.(95236-95238)Aag>Gag	p.K31746E	TTN-AS1_ENST00000585487.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.K30819E|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.K24447E|TTN_ENST00000460472.2_Missense_Mutation_p.K24322E|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000415561.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.K33387E|TTN_ENST00000342175.6_Missense_Mutation_p.K24514E|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589391.1_RNA			Q8WZ42	TITIN_HUMAN	titin	31746	Fibronectin type-III 130. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AATGGACTCTTAATGATCACA	0.383																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(100159-100161)Aag>Gag		titin							45	42	43					2																	179401677		1862	4105	5967	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179401677T>C	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.95236A>G	2.37:g.179401677T>C	ENSP00000465570:p.Lys31746Glu					TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.K24514E|TTN_ENST00000591111.1_Missense_Mutation_p.K31746E|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.K24322E|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.K30819E|TTN_ENST00000359218.5_Missense_Mutation_p.K24447E|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000588804.1_RNA	p.K33387E	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		356	100383	-			31746		T -> M.	Ig-like 146.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.100159A>G		.	.	.	.	.	.	.	.	.	.	T	15.36	2.809661	0.50421	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.49720	0.77;0.77;0.77;0.77	5.55	5.55	0.83447	Fibronectin, type III (2);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.47637	0.1456	M	0.67517	2.055	0.58432	D	0.999995	P;P;P;P	0.48694	0.914;0.914;0.914;0.914	B;B;B;B	0.38842	0.283;0.283;0.283;0.283	T	0.57705	-0.7765	9	0.87932	D	0	.	15.6868	0.77418	0.0:0.0:0.0:1.0	.	24322;24447;24514;31746	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	E	30819;24322;24514;24447;24319	ENSP00000343764:K30819E;ENSP00000434586:K24322E;ENSP00000340554:K24514E;ENSP00000352154:K24447E	ENSP00000340554:K24514E	K	-	1	0	TTN	179109923	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	8.040000	0.89188	2.111000	0.64477	0.460000	0.39030	AAG		0.383	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		8	8	0	0	0	1	0	8	8					C	179401677	T	C	179401677	3	2	435	1	0	0	0	0	1	0	0	0	16732	1763	61	4	7848	4	TTN	2	179401677	Missense_Mutation	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	1209	179401677	63797696	1381	22306											
TTN	7273	broad.mit.edu	37	chr2	179407817	179407817	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgaggtcttgtacagtcaCggctgtgacagtctctcttg	6	14	11	10	1	5	2	1	2	4	0	6	2	5	2	0	2	1	2	0	2	1	3	rs199532781		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:179407817C>T	ENST00000591111.1	-	297	92184	c.91960G>A	c.(91960-91962)Gtg>Atg	p.V30654M	TTN_ENST00000342992.6_Missense_Mutation_p.V29727M|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.V23355M|TTN_ENST00000460472.2_Missense_Mutation_p.V23230M|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592630.1_RNA|RP11-65L3.4_ENST00000604692.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.V32295M|TTN_ENST00000342175.6_Missense_Mutation_p.V23422M|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000585451.1_RNA			Q8WZ42	TITIN_HUMAN	titin	30654	Fibronectin type-III 123. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGTACAGTCACGGCTGTGACA	0.343																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(96883-96885)Gtg>Atg		titin		C	MET/VAL,MET/VAL,MET/VAL,MET/VAL	1,3685		0,1,1842	192	178	182		69688,89179,70063,70264	5.9	1	2		182	4,8190		1,2,4094	yes	missense,missense,missense,missense	TTN	NM_003319.4,NM_133378.4,NM_133432.3,NM_133437.3	21,21,21,21	1,3,5936	TT,TC,CC		0.0488,0.0271,0.0421	probably-damaging,probably-damaging,probably-damaging,probably-damaging	23230/26927,29727/33424,23355/27052,23422/27119	179407817	5,11875	1843	4097	5940	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179407817C>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.91960G>A	2.37:g.179407817C>T	ENSP00000465570:p.Val30654Met					TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.V23422M|TTN_ENST00000591111.1_Missense_Mutation_p.V30654M|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.V23230M|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.V29727M|TTN_ENST00000359218.5_Missense_Mutation_p.V23355M|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000591332.1_RNA	p.V32295M	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		347	97107	-			30654			Protein kinase.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.96883G>A		.	.	.	.	.	.	.	.	.	.	C	16.11	3.031226	0.54790	2.71E-4	4.88E-4	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.55234	0.53;0.53;0.53;0.53	5.91	5.91	0.95273	Fibronectin, type III (2);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.78710	0.4326	M	0.89287	3.02	0.58432	D	0.999998	D;D;D;D	0.89917	0.999;0.999;0.999;1.0	D;D;D;D	0.73708	0.965;0.965;0.965;0.981	T	0.81547	-0.0883	9	0.87932	D	0	.	20.2985	0.98592	0.0:1.0:0.0:0.0	.	23230;23355;23422;30654	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	M	29727;23230;23422;23355;23227	ENSP00000343764:V29727M;ENSP00000434586:V23230M;ENSP00000340554:V23422M;ENSP00000352154:V23355M	ENSP00000340554:V23422M	V	-	1	0	TTN	179116063	0.996000	0.38824	0.986000	0.45419	0.814000	0.46013	3.328000	0.52052	2.793000	0.96121	0.655000	0.94253	GTG		0.343	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		63	80	0	0	0	1	0	63	80					T	179407817	C	T	179407817	3	4	435	1	0	0	0	0	1	0	0	0	16732	536	19	1	11160	1	TTN	2	179407817	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	6140	179407817	63791556	1382	22307											
TTN	7273	broad.mit.edu	37	chr2	179408999	179408999	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tacccttcacgttcacggcaGcaactctgaaggaatatttc	11	11	7	12	2	3	1	2	1	1	0	4	2	3	2	1	2	3	3	1	2	5	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:179408999G>A	ENST00000591111.1	-	295	91258	c.91034C>T	c.(91033-91035)gCt>gTt	p.A30345V	TTN_ENST00000342992.6_Missense_Mutation_p.A29418V|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.A23046V|TTN_ENST00000460472.2_Missense_Mutation_p.A22921V|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592630.1_RNA|RP11-65L3.4_ENST00000604692.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.A31986V|TTN_ENST00000342175.6_Missense_Mutation_p.A23113V|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000585451.1_RNA			Q8WZ42	TITIN_HUMAN	titin	30345	Fibronectin type-III 121. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GTTCACGGCAGCAACTCTGAA	0.423																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(95956-95958)gCt>gTt		titin							95	89	91					2																	179408999		1906	4125	6031	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179408999G>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.91034C>T	2.37:g.179408999G>A	ENSP00000465570:p.Ala30345Val					TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.A23113V|TTN_ENST00000591111.1_Missense_Mutation_p.A30345V|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.A22921V|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.A29418V|TTN_ENST00000359218.5_Missense_Mutation_p.A23046V|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000591332.1_RNA	p.A31986V	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		345	96181	-			30345			Ig-like 142.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.95957C>T		.	.	.	.	.	.	.	.	.	.	G	25.4	4.639253	0.87760	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.57752	0.38;0.38;0.38;0.38	6.17	6.17	0.99709	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.63058	0.2479	N	0.17901	0.54	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.998;0.998;0.998;0.998	T	0.65713	-0.6101	9	0.87932	D	0	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	22921;23046;23113;30345	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	V	29418;22921;23113;23046;22918	ENSP00000343764:A29418V;ENSP00000434586:A22921V;ENSP00000340554:A23113V;ENSP00000352154:A23046V	ENSP00000340554:A23113V	A	-	2	0	TTN	179117245	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	9.869000	0.99810	2.941000	0.99782	0.655000	0.94253	GCT		0.423	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		22	28	0	0	0	1	0	22	28					A	179408999	G	A	179408999	3	1	435	1	0	0	0	0	1	0	0	0	16732	971	34	3	12094	3	TTN	2	179408999	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	1182	179408999	63790374	1383	22308											
TTN	7273	broad.mit.edu	37	chr2	179413764	179413764	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttgtgccagtctcctaagtcGgccttacacatttcaataat	10	14	6	11	1	2	0	1	0	1	0	4	0	2	0	3	1	2	0	3	1	4	5	rs201529901		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:179413764G>A	ENST00000591111.1	-	289	87890	c.87666C>T	c.(87664-87666)gcC>gcT	p.A29222A	TTN_ENST00000342992.6_Silent_p.A28295A|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Silent_p.A21923A|TTN_ENST00000460472.2_Silent_p.A21798A|RP11-65L3.2_ENST00000603415.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000589042.1_Silent_p.A30863A|TTN_ENST00000342175.6_Silent_p.A21990A|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000585451.1_RNA			Q8WZ42	TITIN_HUMAN	titin	29222	Fibronectin type-III 113. {ECO:0000255|PROSITE-ProRule:PRU00316}.			A -> T (in Ref. 1; CAA62188). {ECO:0000305}.	adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTCCTAAGTCGGCCTTACACA	0.403																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(92587-92589)gcC>gcT		titin							104	102	102					2																	179413764		1976	4156	6132	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179413764G>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.87666C>T	2.37:g.179413764G>A						TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000342175.6_Silent_p.A21990A|TTN_ENST00000591111.1_Silent_p.A29222A|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000460472.2_Silent_p.A21798A|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342992.6_Silent_p.A28295A|TTN_ENST00000359218.5_Silent_p.A21923A|RP11-65L3.2_ENST00000603415.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000591332.1_RNA	p.A30863A	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		339	92813	-			29222			Fibronectin type-III 125.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	ENST00000591111.1	37	c.92589C>T																																																																																					0.403	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		25	31	0	0	0	1	0	25	31					A	179413764	G	A	179413764	2	1	435	1	0	0	0	0	0	0	0	1	16732	1103	39	2		2	TTN	2	179413764	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	4765	179413764	63785609	1384	22309											
TTN	7273	broad.mit.edu	37	chr2	179422223	179422223	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cactggttcatgccagcccaCagtgatgctttctcgagtaa	9	11	9	12	1	2	1	1	1	1	0	3	2	2	1	2	1	3	3	2	1	1	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:179422223C>T	ENST00000591111.1	-	279	83067	c.82843G>A	c.(82843-82845)Gtg>Atg	p.V27615M	TTN_ENST00000342992.6_Missense_Mutation_p.V26688M|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.V20316M|TTN_ENST00000460472.2_Missense_Mutation_p.V20191M|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.V29256M|TTN_ENST00000342175.6_Missense_Mutation_p.V20383M|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000585451.1_RNA			Q8WZ42	TITIN_HUMAN	titin	27615	Fibronectin type-III 101. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGCCAGCCCACAGTGATGCTT	0.428																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(87766-87768)Gtg>Atg		titin							103	95	97					2																	179422223		2013	4173	6186	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179422223C>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.82843G>A	2.37:g.179422223C>T	ENSP00000465570:p.Val27615Met					TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.V20383M|TTN_ENST00000591111.1_Missense_Mutation_p.V27615M|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.V20191M|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.V26688M|TTN_ENST00000359218.5_Missense_Mutation_p.V20316M|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000591332.1_RNA	p.V29256M	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		329	87990	-			27615			Fibronectin type-III 113.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.87766G>A		.	.	.	.	.	.	.	.	.	.	C	16.54	3.152602	0.57259	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.59772	0.24;0.24;0.24;0.24	5.56	5.56	0.83823	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.79317	0.4425	M	0.83384	2.64	0.53688	D	0.999976	D;D;D;D	0.71674	0.997;0.997;0.997;0.998	D;D;D;D	0.72338	0.959;0.959;0.959;0.977	T	0.81420	-0.0941	9	0.87932	D	0	.	19.9052	0.97004	0.0:1.0:0.0:0.0	.	20191;20316;20383;27615	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	M	26688;20191;20383;20316;20188	ENSP00000343764:V26688M;ENSP00000434586:V20191M;ENSP00000340554:V20383M;ENSP00000352154:V20316M	ENSP00000340554:V20383M	V	-	1	0	TTN	179130469	0.995000	0.38212	0.980000	0.43619	0.976000	0.68499	3.296000	0.51802	2.776000	0.95493	0.655000	0.94253	GTG		0.428	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		28	34	0	0	0	1	0	28	34					T	179422223	C	T	179422223	3	4	435	1	0	0	0	0	1	0	0	0	16732	478	17	3	20349	3	TTN	2	179422223	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	8459	179422223	63777150	1385	22310											
TTN	7273	broad.mit.edu	37	chr2	179424206	179424206	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgctttcttgctggcctcacGtttttctatgtggtaattct	4	20	8	9	1	4	0	1	0	3	0	4	0	4	0	1	2	2	4	1	2	2	7			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:179424206G>A	ENST00000591111.1	-	276	81954	c.81730C>T	c.(81730-81732)Cgt>Tgt	p.R27244C	TTN_ENST00000342992.6_Missense_Mutation_p.R26317C|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R19945C|TTN_ENST00000460472.2_Missense_Mutation_p.R19820C|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.R28885C|TTN_ENST00000342175.6_Missense_Mutation_p.R20012C|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000585451.1_RNA			Q8WZ42	TITIN_HUMAN	titin	27244	Fibronectin type-III 98. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTGGCCTCACGTTTTTCTATG	0.438																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(86653-86655)Cgt>Tgt		titin							114	114	114					2																	179424206		1933	4141	6074	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179424206G>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.81730C>T	2.37:g.179424206G>A	ENSP00000465570:p.Arg27244Cys					TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R20012C|TTN_ENST00000591111.1_Missense_Mutation_p.R27244C|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R19820C|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R26317C|TTN_ENST00000359218.5_Missense_Mutation_p.R19945C|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000591332.1_RNA	p.R28885C	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		326	86877	-			27244			Ig-like 133.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.86653C>T		.	.	.	.	.	.	.	.	.	.	G	15.90	2.968382	0.53614	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.59364	0.27;0.27;0.27;0.27	5.62	5.62	0.85841	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.75693	0.3884	M	0.63169	1.94	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	T	0.76490	-0.2940	9	0.87932	D	0	.	20.0247	0.97519	0.0:0.0:1.0:0.0	.	19820;19945;20012;27244	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	C	26317;19820;20012;19945;19817	ENSP00000343764:R26317C;ENSP00000434586:R19820C;ENSP00000340554:R20012C;ENSP00000352154:R19945C	ENSP00000340554:R20012C	R	-	1	0	TTN	179132452	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.002000	0.88514	2.804000	0.96469	0.655000	0.94253	CGT		0.438	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		27	40	0	0	0	1	0	27	40					A	179424206	G	A	179424206	3	1	435	1	0	0	0	0	1	0	0	0	16732	1145	40	1	21474	1	TTN	2	179424206	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	1983	179424206	63775167	1386	22311											
TTN	7273	broad.mit.edu	37	chr2	179435501	179435501	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accagcatgaaccacgattgTgtctttgtattttggatcca	10	14	8	9	1	1	1	0	1	1	0	2	3	2	2	3	1	2	2	3	1	2	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:179435501T>C	ENST00000591111.1	-	276	70659	c.70435A>G	c.(70435-70437)Aca>Gca	p.T23479A	TTN_ENST00000342992.6_Missense_Mutation_p.T22552A|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.T16180A|TTN_ENST00000460472.2_Missense_Mutation_p.T16055A|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.T25120A|TTN_ENST00000342175.6_Missense_Mutation_p.T16247A|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000585451.1_RNA			Q8WZ42	TITIN_HUMAN	titin	23479	Ig-like 119.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ACCACGATTGTGTCTTTGTAT	0.423																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(75358-75360)Aca>Gca		titin							289	256	267					2																	179435501		1968	4157	6125	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179435501T>C	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.70435A>G	2.37:g.179435501T>C	ENSP00000465570:p.Thr23479Ala					TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.T16247A|TTN_ENST00000591111.1_Missense_Mutation_p.T23479A|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.T16055A|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.T22552A|TTN_ENST00000359218.5_Missense_Mutation_p.T16180A|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000591332.1_RNA	p.T25120A	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		326	75582	-			23479			Fibronectin type-III 82.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.75358A>G		.	.	.	.	.	.	.	.	.	.	T	10.84	1.465248	0.26335	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.41758	0.99;0.99;0.99;0.99	5.72	4.54	0.55810	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.33556	0.0867	L	0.33137	0.985	0.43283	D	0.995255	B;B;B;B	0.10296	0.003;0.003;0.003;0.003	B;B;B;B	0.08055	0.003;0.003;0.003;0.003	T	0.10965	-1.0607	9	0.87932	D	0	.	12.189	0.54257	0.0:0.0676:0.0:0.9324	.	16055;16180;16247;23479	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	A	22552;16055;16247;16180;16053	ENSP00000343764:T22552A;ENSP00000434586:T16055A;ENSP00000340554:T16247A;ENSP00000352154:T16180A	ENSP00000340554:T16247A	T	-	1	0	TTN	179143747	1.000000	0.71417	0.869000	0.34112	0.951000	0.60555	2.132000	0.42083	1.051000	0.40369	0.528000	0.53228	ACA		0.423	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		40	71	0	0	0	1	0	40	71					C	179435501	T	C	179435501	3	2	435	1	0	0	0	0	1	0	0	0	16732	1696	59	4	32769	4	TTN	2	179435501	Missense_Mutation	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	11295	179435501	63763872	1387	22312											
TTN	7273	broad.mit.edu	37	chr2	179438251	179438251	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccagtggctctcccactccaTatttatttacagccatgaca	10	12	5	14	0	1	1	0	1	1	0	3	1	2	1	4	1	2	1	4	1	3	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:179438251T>C	ENST00000591111.1	-	276	67909	c.67685A>G	c.(67684-67686)tAt>tGt	p.Y22562C	TTN_ENST00000342992.6_Missense_Mutation_p.Y21635C|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.Y15263C|TTN_ENST00000460472.2_Missense_Mutation_p.Y15138C|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.Y24203C|TTN_ENST00000342175.6_Missense_Mutation_p.Y15330C|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000585451.1_RNA			Q8WZ42	TITIN_HUMAN	titin	22562	Fibronectin type-III 63. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCCCACTCCATATTTATTTAC	0.433																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(72607-72609)tAt>tGt		titin							151	154	153					2																	179438251		1930	4122	6052	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179438251T>C	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.67685A>G	2.37:g.179438251T>C	ENSP00000465570:p.Tyr22562Cys					TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.Y15330C|TTN_ENST00000591111.1_Missense_Mutation_p.Y22562C|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.Y15138C|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.Y21635C|TTN_ENST00000359218.5_Missense_Mutation_p.Y15263C|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000591332.1_RNA	p.Y24203C	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		326	72832	-			22562			Ig-like 121.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.72608A>G		.	.	.	.	.	.	.	.	.	.	T	10.92	1.487147	0.26686	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.57107	0.42;0.42;0.42;0.42	6.08	4.91	0.64330	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.67896	0.2942	M	0.63208	1.945	0.58432	D	0.999998	D;D;D;D	0.76494	0.999;0.999;0.999;0.999	D;D;D;D	0.69479	0.964;0.964;0.964;0.947	T	0.70521	-0.4849	9	0.87932	D	0	.	12.9076	0.58162	0.1216:0.0:0.0:0.8784	.	15138;15263;15330;22562	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	C	21635;15138;15330;15263;15136	ENSP00000343764:Y21635C;ENSP00000434586:Y15138C;ENSP00000340554:Y15330C;ENSP00000352154:Y15263C	ENSP00000340554:Y15330C	Y	-	2	0	TTN	179146497	1.000000	0.71417	0.993000	0.49108	0.996000	0.88848	8.040000	0.89188	1.086000	0.41228	0.533000	0.62120	TAT		0.433	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		57	73	0	0	0	1	0	57	73					C	179438251	T	C	179438251	3	2	435	1	0	0	0	0	1	0	0	0	16732	1406	49	4	35519	4	TTN	2	179438251	Missense_Mutation	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	2750	179438251	63761122	1388	22313											
TTN	7273	broad.mit.edu	37	chr2	179444834	179444834	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggatttcctctctgcatcacGtttttgtaccacatagttta	8	17	6	10	1	2	0	1	0	1	0	4	1	3	1	2	1	2	4	2	1	3	7			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:179444834G>A	ENST00000591111.1	-	268	62481	c.62257C>T	c.(62257-62259)Cgt>Tgt	p.R20753C	TTN_ENST00000342992.6_Missense_Mutation_p.R19826C|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R13454C|TTN_ENST00000460472.2_Missense_Mutation_p.R13329C|RP11-171I2.2_ENST00000603521.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.R22394C|RP11-171I2.5_ENST00000604215.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R13521C|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000585451.1_RNA			Q8WZ42	TITIN_HUMAN	titin	20753	Fibronectin type-III 50. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCTGCATCACGTTTTTGTACC	0.443																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(67180-67182)Cgt>Tgt		titin							170	163	166					2																	179444834		1890	4123	6013	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179444834G>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.62257C>T	2.37:g.179444834G>A	ENSP00000465570:p.Arg20753Cys					TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R13521C|TTN_ENST00000591111.1_Missense_Mutation_p.R20753C|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R13329C|TTN-AS1_ENST00000438095.1_RNA|RP11-171I2.2_ENST00000603521.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R19826C|TTN_ENST00000359218.5_Missense_Mutation_p.R13454C|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000591332.1_RNA	p.R22394C	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		318	67404	-			20753			Ig-like 116.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.67180C>T		.	.	.	.	.	.	.	.	.	.	G	14.96	2.691064	0.48097	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.59364	0.27;0.27;0.27;0.27	5.65	5.65	0.86999	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.79684	0.4488	M	0.83692	2.655	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.999;0.999	T	0.81920	-0.0712	9	0.87932	D	0	.	19.7274	0.96170	0.0:0.0:1.0:0.0	.	13329;13454;13521;20753	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	C	19826;13329;13521;13454;13327	ENSP00000343764:R19826C;ENSP00000434586:R13329C;ENSP00000340554:R13521C;ENSP00000352154:R13454C	ENSP00000340554:R13521C	R	-	1	0	TTN	179153080	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	8.002000	0.88514	2.663000	0.90544	0.563000	0.77884	CGT		0.443	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		35	74	0	0	0	1	0	35	74					A	179444834	G	A	179444834	3	1	435	1	0	0	0	0	1	0	0	0	16732	1145	40	1	40979	1	TTN	2	179444834	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	6583	179444834	63754539	1389	22314											
TTN	7273	broad.mit.edu	37	chr2	179446516	179446516	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	catatactttagggaaagccGgtgggccaggaggatctgag	11	8	15	7	1	1	1	0	1	1	0	1	4	1	4	2	5	2	0	2	5	4	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:179446516G>A	ENST00000591111.1	-	266	61780	c.61556C>T	c.(61555-61557)cCg>cTg	p.P20519L	TTN_ENST00000342992.6_Missense_Mutation_p.P19592L|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.P13220L|TTN_ENST00000460472.2_Missense_Mutation_p.P13095L|RP11-171I2.2_ENST00000603521.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000590743.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.P22160L|TTN_ENST00000342175.6_Missense_Mutation_p.P13287L|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000585451.1_RNA			Q8WZ42	TITIN_HUMAN	titin	20519	Fibronectin type-III 49. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AGGGAAAGCCGGTGGGCCAGG	0.448																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(66478-66480)cCg>cTg		titin							20	19	19					2																	179446516		1843	4090	5933	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179446516G>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.61556C>T	2.37:g.179446516G>A	ENSP00000465570:p.Pro20519Leu					TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.P13287L|TTN_ENST00000591111.1_Missense_Mutation_p.P20519L|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.P13095L|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.P19592L|TTN_ENST00000359218.5_Missense_Mutation_p.P13220L|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000591332.1_RNA	p.P22160L	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		316	66703	-			20519		V -> I.	Fibronectin type-III 60.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.66479C>T		.	.	.	.	.	.	.	.	.	.	G	16.43	3.120610	0.56613	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.71934	-0.61;-0.61;-0.61;-0.61	5.41	5.41	0.78517	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.90707	0.7084	H	0.97962	4.115	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.999;0.999	D	0.93595	0.6925	9	0.87932	D	0	.	19.3887	0.94570	0.0:0.0:1.0:0.0	.	13095;13220;13287;20519	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	L	19592;13095;13287;13220;13093	ENSP00000343764:P19592L;ENSP00000434586:P13095L;ENSP00000340554:P13287L;ENSP00000352154:P13220L	ENSP00000340554:P13287L	P	-	2	0	TTN	179154762	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.661000	0.83786	2.826000	0.97356	0.655000	0.94253	CCG		0.448	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		6	16	0	0	0	1	0	6	16					A	179446516	G	A	179446516	3	1	435	1	0	0	0	0	1	0	0	0	16732	1116	39	2	41688	2	TTN	2	179446516	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	1682	179446516	63752857	1390	22315											
TTN	7273	broad.mit.edu	37	chr2	179449464	179449464	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgccaaatcggttttcagcaCggacccggaagatgtactcc	10	9	10	12	3	1	1	1	0	0	1	3	3	2	3	3	3	3	3	3	3	3	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:179449464C>T	ENST00000591111.1	-	260	60205	c.59981G>A	c.(59980-59982)cGt>cAt	p.R19994H	TTN_ENST00000342992.6_Missense_Mutation_p.R19067H|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R12695H|TTN_ENST00000460472.2_Missense_Mutation_p.R12570H|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000590743.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.R21635H|TTN_ENST00000342175.6_Missense_Mutation_p.R12762H|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000585451.1_RNA			Q8WZ42	TITIN_HUMAN	titin	19994	Fibronectin type-III 44. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.R12695H(1)|p.R19065H(1)|p.R12570H(1)|p.R12762H(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GTTTTCAGCACGGACCCGGAA	0.488																																						ENST00000589042.1																			4	Substitution - Missense(4)	p.R12695H(1)|p.R19065H(1)|p.R12570H(1)|p.R12762H(1)	large_intestine(4)	NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(64903-64905)cGt>cAt		titin							179	178	178					2																	179449464		1919	4115	6034	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179449464C>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.59981G>A	2.37:g.179449464C>T	ENSP00000465570:p.Arg19994His					TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R12762H|TTN_ENST00000591111.1_Missense_Mutation_p.R19994H|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590743.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R12570H|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R19067H|TTN_ENST00000359218.5_Missense_Mutation_p.R12695H|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000591332.1_RNA	p.R21635H	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		310	65128	-			19994			Fibronectin type-III 57.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.64904G>A		.	.	.	.	.	.	.	.	.	.	C	25.7	4.665617	0.88251	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.58358	0.34;0.34;0.34;0.34	6.17	6.17	0.99709	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.78123	0.4234	M	0.85630	2.765	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.999;0.999	T	0.79200	-0.1901	9	0.87932	D	0	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	12570;12695;12762;19994	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	H	19067;12570;12762;12695;12568	ENSP00000343764:R19067H;ENSP00000434586:R12570H;ENSP00000340554:R12762H;ENSP00000352154:R12695H	ENSP00000340554:R12762H	R	-	2	0	TTN	179157710	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.038000	0.70964	2.941000	0.99782	0.655000	0.94253	CGT		0.488	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		73	90	0	0	0	1	0	73	90					T	179449464	C	T	179449464	3	4	435	1	0	0	0	0	1	0	0	0	16732	536	19	1	43287	1	TTN	2	179449464	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	2948	179449464	63749909	1391	22316											
TTN	7273	broad.mit.edu	37	chr2	179452941	179452941	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gaaattggttggtggaccagGtggctctgaaagtaaaatat	13	11	13	4	0	1	1	0	1	1	0	1	3	1	2	1	5	0	3	1	5	5	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:179452941G>A	ENST00000591111.1	-	255	58494	c.58270C>T	c.(58270-58272)Cct>Tct	p.P19424S	TTN_ENST00000342992.6_Missense_Mutation_p.P18497S|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.P12125S|TTN_ENST00000460472.2_Missense_Mutation_p.P12000S|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000590743.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.P21065S|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.P12192S|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000585451.1_RNA			Q8WZ42	TITIN_HUMAN	titin	19424					adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GGTGGACCAGGTGGCTCTGAA	0.373																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(63193-63195)Cct>Tct		titin							49	47	48					2																	179452941		1855	4087	5942	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179452941G>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.58270C>T	2.37:g.179452941G>A	ENSP00000465570:p.Pro19424Ser					TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.P12192S|TTN_ENST00000591111.1_Missense_Mutation_p.P19424S|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590743.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.P12000S|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.P18497S|TTN_ENST00000359218.5_Missense_Mutation_p.P12125S|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000591332.1_RNA	p.P21065S	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		305	63417	-			19424			Fibronectin type-III 52.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.63193C>T		.	.	.	.	.	.	.	.	.	.	G	14.10	2.433916	0.43224	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.78126	-1.15;-1.15;-1.15;-1.15	6.03	6.03	0.97812	Fibronectin, type III (3);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.92143	0.7509	H	0.94620	3.56	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.996;0.999;0.999;0.996	D	0.93193	0.6585	9	0.87932	D	0	.	20.5596	0.99324	0.0:0.0:1.0:0.0	.	12000;12125;12192;19424	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	S	18497;12000;12192;12125;11998	ENSP00000343764:P18497S;ENSP00000434586:P12000S;ENSP00000340554:P12192S;ENSP00000352154:P12125S	ENSP00000340554:P12192S	P	-	1	0	TTN	179161187	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.814000	0.99346	2.868000	0.98415	0.555000	0.69702	CCT		0.373	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		12	32	0	0	0	1	0	12	32					A	179452941	G	A	179452941	3	1	435	1	0	0	0	0	1	0	0	0	16732	1261	44	3	45018	3	TTN	2	179452941	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	3477	179452941	63746432	1392	22317											
TTN	7273	broad.mit.edu	37	chr2	179478930	179478930	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	acggtggatgagagcttgtgCcacacttcactatcagttgc	9	11	11	10	1	2	1	2	1	0	1	2	3	2	2	1	2	3	2	1	2	1	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:179478930C>T	ENST00000591111.1	-	212	44495	c.44271G>A	c.(44269-44271)tgG>tgA	p.W14757*	TTN_ENST00000342992.6_Nonsense_Mutation_p.W13830*|TTN_ENST00000359218.5_Nonsense_Mutation_p.W7458*|TTN_ENST00000460472.2_Nonsense_Mutation_p.W7333*|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000589042.1_Nonsense_Mutation_p.W16398*|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000342175.6_Nonsense_Mutation_p.W7525*|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000585451.1_RNA|RP11-171I2.4_ENST00000605334.1_lincRNA			Q8WZ42	TITIN_HUMAN	titin	14757	Fibronectin type-III 6. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AGAGCTTGTGCCACACTTCAC	0.438																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(49192-49194)tgG>tgA		titin							146	135	138					2																	179478930		2005	4184	6189	SO:0001587	stop_gained	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179478930C>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.44271G>A	2.37:g.179478930C>T	ENSP00000465570:p.Trp14757*					TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000342175.6_Nonsense_Mutation_p.W7525*|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000591111.1_Nonsense_Mutation_p.W14757*|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000460472.2_Nonsense_Mutation_p.W7333*|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342992.6_Nonsense_Mutation_p.W13830*|TTN_ENST00000359218.5_Nonsense_Mutation_p.W7458*|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000585451.1_RNA	p.W16398*	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		262	49418	-			14757			Ig-like 100.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Nonsense_Mutation	SNP	ENST00000591111.1	37	c.49194G>A		.	.	.	.	.	.	.	.	.	.	C	59	37.121217	0.99984	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	.	.	.	5.77	5.77	0.91146	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	20.3627	0.98863	0.0:1.0:0.0:0.0	.	.	.	.	X	13830;7333;7525;7458;7333	.	ENSP00000340554:W7525X	W	-	3	0	TTN	179187175	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.729000	0.84864	2.885000	0.99019	0.655000	0.94253	TGG		0.438	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		6	27	0	0	0	1	0	6	27					T	179478930	C	T	179478930	4	4	435	1	0	0	0	0	0	1	0	0	16732	740	26	3	58903	3	TTN	2	179478930	Nonsense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	25989	179478930	63720443	1393	22318											
TTN	7273	broad.mit.edu	37	chr2	179486290	179486290	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aggtgagcgttctgaatgacCaggattctcttccgtccttc	7	13	10	11	2	2	3	0	3	2	0	6	4	4	4	3	2	1	1	3	2	1	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:179486290C>T	ENST00000591111.1	-	195	40562	c.40338G>A	c.(40336-40338)ctG>ctA	p.L13446L	TTN_ENST00000342992.6_Silent_p.L12519L|TTN_ENST00000359218.5_Silent_p.L6147L|TTN_ENST00000460472.2_Silent_p.L6022L|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000589042.1_Silent_p.L15087L|TTN_ENST00000342175.6_Silent_p.L6214L|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000604956.1_RNA			Q8WZ42	TITIN_HUMAN	titin	13446	Ig-like 90.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCTGAATGACCAGGATTCTCT	0.453																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(45259-45261)ctG>ctA		titin							136	135	135					2																	179486290		2011	4190	6201	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179486290C>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.40338G>A	2.37:g.179486290C>T						TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000342175.6_Silent_p.L6214L|TTN_ENST00000591111.1_Silent_p.L13446L|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Silent_p.L6022L|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342992.6_Silent_p.L12519L|TTN_ENST00000359218.5_Silent_p.L6147L|TTN-AS1_ENST00000585451.1_RNA	p.L15087L	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		245	45485	-			13446			Fibronectin type-III 9.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	ENST00000591111.1	37	c.45261G>A																																																																																					0.453	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		7	20	0	0	0	1	0	7	20					T	179486290	C	T	179486290	2	4	435	1	0	0	0	0	0	0	0	1	16732	581	21	3		3	TTN	2	179486290	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	7360	179486290	63713083	1394	22319											
TTN	7273	broad.mit.edu	37	chr2	179486415	179486415	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acaaaccagttttatagtgtCtgtttcactaacttcaatgt	12	16	5	8	0	3	0	2	0	1	0	3	0	3	0	1	0	2	2	1	0	5	6			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:179486415C>A	ENST00000591111.1	-	195	40437	c.40213G>T	c.(40213-40215)Gac>Tac	p.D13405Y	TTN_ENST00000342992.6_Missense_Mutation_p.D12478Y|TTN_ENST00000359218.5_Missense_Mutation_p.D6106Y|TTN_ENST00000460472.2_Missense_Mutation_p.D5981Y|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.D15046Y|TTN_ENST00000342175.6_Missense_Mutation_p.D6173Y|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000604956.1_RNA			Q8WZ42	TITIN_HUMAN	titin	13405	Ig-like 90.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTTATAGTGTCTGTTTCACTA	0.368																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(45136-45138)Gac>Tac		titin							86	81	83					2																	179486415		1839	4089	5928	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179486415C>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.40213G>T	2.37:g.179486415C>A	ENSP00000465570:p.Asp13405Tyr					TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.D6173Y|TTN_ENST00000591111.1_Missense_Mutation_p.D13405Y|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.D5981Y|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.D12478Y|TTN_ENST00000359218.5_Missense_Mutation_p.D6106Y|TTN-AS1_ENST00000585451.1_RNA	p.D15046Y	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		245	45360	-			13405			Fibronectin type-III 9.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.45136G>T		.	.	.	.	.	.	.	.	.	.	C	15.09	2.731319	0.48939	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.78364	-1.17;-1.17;-1.17;-1.17	5.96	5.96	0.96718	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.88584	0.6476	M	0.76002	2.32	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.72338	0.977;0.977;0.977;0.977	D	0.88585	0.3139	9	0.87932	D	0	.	20.4008	0.98991	0.0:1.0:0.0:0.0	.	5981;6106;6173;13405	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	Y	12478;5981;6173;6106;5981	ENSP00000343764:D12478Y;ENSP00000434586:D5981Y;ENSP00000340554:D6173Y;ENSP00000352154:D6106Y	ENSP00000340554:D6173Y	D	-	1	0	TTN	179194660	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.770000	0.85390	2.826000	0.97356	0.655000	0.94253	GAC		0.368	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		9	16	1	0	0.00448238	1	0.00453641	9	16					A	179486415	C	A	179486415	3	1	435	1	0	0	0	0	1	0	0	0	16732	913	32	5	63029	5	TTN	2	179486415	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	125	179486415	63712958	1395	22320											
TTN	7273	broad.mit.edu	37	chr2	179542933	179542933	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gagcttcttgggcacctctgGcactttaaagatattattta	10	15	8	8	0	2	1	0	0	2	1	2	2	2	1	1	2	1	3	1	2	5	8			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:179542933G>A	ENST00000591111.1	-	143	33186	c.32962C>T	c.(32962-32964)Cca>Tca	p.P10988S	TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.P10061S|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.P11305S|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA			Q8WZ42	TITIN_HUMAN	titin	10134	Glu-rich.|Pro-rich.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GGCACCTCTGGCACTTTAAAG	0.338																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(33913-33915)Cca>Tca		titin							121	107	111					2																	179542933		1810	4081	5891	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179542933G>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.32962C>T	2.37:g.179542933G>A	ENSP00000465570:p.Pro10988Ser					TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.P10988S|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.P10061S|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000585451.1_RNA	p.P11305S	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		145	34137	-			10988			Glu-rich.|Pro-rich.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.33913C>T		.	.	.	.	.	.	.	.	.	.	G	15.41	2.826184	0.50739	.	.	ENSG00000155657	ENST00000342992;ENST00000414766	T	0.69926	-0.44	5.7	5.7	0.88788	Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);	.	.	.	.	T	0.60843	0.2300	M	0.64997	1.995	0.80722	D	1	B;P	0.46142	0.085;0.873	B;B	0.36666	0.133;0.23	T	0.68104	-0.5497	9	0.87932	D	0	.	11.7557	0.51874	0.0:0.1322:0.7308:0.1371	.	10988;10534	Q8WZ42;Q8WZ42-5	TITIN_HUMAN;.	S	10061;729	ENSP00000343764:P10061S	ENSP00000343764:P10061S	P	-	1	0	TTN	179251178	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.431000	0.44775	2.685000	0.91497	0.650000	0.86243	CCA		0.338	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		28	51	0	0	0	1	0	28	51					A	179542933	G	A	179542933	3	1	435	1	0	0	0	0	1	0	0	0	16732	1203	42	3	70488	3	TTN	2	179542933	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	56518	179542933	63656440	1396	22321											
TTN	7273	broad.mit.edu	37	chr2	179549439	179549440	+	Frame_Shift_Ins	INS	-	-	T																															taatgacttttggaggaaccINStttttttctggaactggttt																										TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:179549439_179549440insT	ENST00000591111.1	-	129	31864_31865	c.31640_31641insA	c.(31639-31641)aagfs	p.K10547fs	TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000342992.6_Frame_Shift_Ins_p.K9620fs|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000589042.1_Frame_Shift_Ins_p.K10864fs|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA			Q8WZ42	TITIN_HUMAN	titin	0	Glu-rich.|Pro-rich.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTGGAGGAACCTTTTTTTCTGG	0.411																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(32590-32592)agtfs		titin																																				SO:0001589	frameshift_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179549439_179549440insT	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.31641dupA	2.37:g.179549446_179549446dupT	ENSP00000465570:p.Lys10547fs					TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000591111.1_Frame_Shift_Ins_p.S10547fs|TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342992.6_Frame_Shift_Ins_p.S9620fs	p.S10864fs	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		131	32815_32816	-			10547			Glu-rich.|Pro-rich.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Frame_Shift_Ins	INS	ENST00000591111.1	37	c.32591_32592insA																																																																																					0.411	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		34	40						34	40	---	---	---	---	T	179549440	-	T	179549439	7	5	435	1	0	1	1	0	0	0	0	0	16732	680	24	0	71865	0	TTN	2	179549439	Frame_Shift_Ins	INS	-	TCGA-XK-AAIW-01A-11D-A41K-08	6506	179549439	63649934	1397	22322											
TTN	7273	broad.mit.edu	37	chr2	179577222	179577222	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gccatttttcttccaggtaaCcgaaatgggaggagttccag	10	11	11	9	1	1	0	0	0	1	0	3	3	3	2	4	3	1	2	4	3	2	5	rs186857044		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:179577222C>T	ENST00000591111.1	-	93	26700	c.26476G>A	c.(26476-26478)Gtt>Att	p.V8826I	TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.V7899I|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.V9143I|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA			Q8WZ42	TITIN_HUMAN	titin	12975	Ig-like 71.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTCCAGGTAACCGAAATGGGA	0.428																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(27427-27429)Gtt>Att		titin							64	62	63					2																	179577222		1850	4091	5941	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179577222C>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.26476G>A	2.37:g.179577222C>T	ENSP00000465570:p.Val8826Ile					TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.V8826I|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.V7899I|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000585451.1_RNA	p.V9143I	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		95	27651	-			8826			Ig-like 74.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.27427G>A		.	.	.	.	.	.	.	.	.	.	C	8.868	0.948610	0.18356	.	.	ENSG00000155657	ENST00000342992	T	0.72282	-0.64	5.88	5.01	0.66863	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.71143	0.3305	L	0.42245	1.32	0.80722	D	1	P	0.45634	0.863	P	0.48227	0.571	T	0.74842	-0.3527	9	0.87932	D	0	.	15.2405	0.73465	0.0:0.9327:0.0:0.0673	.	8826	Q8WZ42	TITIN_HUMAN	I	7899	ENSP00000343764:V7899I	ENSP00000343764:V7899I	V	-	1	0	TTN	179285467	1.000000	0.71417	0.011000	0.14972	0.005000	0.04900	4.902000	0.63266	1.485000	0.48380	-0.137000	0.14449	GTT		0.428	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		17	22	0	0	0	1	0	17	22					T	179577222	C	T	179577222	3	4	435	1	0	0	0	0	1	0	0	0	16732	507	18	3	77174	3	TTN	2	179577222	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	27783	179577222	63622151	1398	22323											
TTN	7273	broad.mit.edu	37	chr2	179579944	179579944	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcaaggtgaacatcagctcCtttcagtgtctctataggat	10	14	8	9	0	4	1	3	1	1	0	6	2	5	2	1	2	2	1	1	2	4	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:179579944C>A	ENST00000591111.1	-	88	25242	c.25018G>T	c.(25018-25020)Gga>Tga	p.G8340*	TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000342992.6_Nonsense_Mutation_p.G7413*|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000589042.1_Nonsense_Mutation_p.G8657*|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA			Q8WZ42	TITIN_HUMAN	titin	12515	Ig-like 66.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ACATCAGCTCCTTTCAGTGTC	0.398																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(25969-25971)Gga>Tga		titin							163	147	152					2																	179579944		1862	4104	5966	SO:0001587	stop_gained	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179579944C>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.25018G>T	2.37:g.179579944C>A	ENSP00000465570:p.Gly8340*					TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Nonsense_Mutation_p.G8340*|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Nonsense_Mutation_p.G7413*|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000585451.1_RNA	p.G8657*	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		90	26193	-			8340			Ig-like 69.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Nonsense_Mutation	SNP	ENST00000591111.1	37	c.25969G>T		.	.	.	.	.	.	.	.	.	.	C	59	36.978237	0.99984	.	.	ENSG00000155657	ENST00000342992	.	.	.	5.62	3.82	0.43975	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	11.0775	0.48040	0.1287:0.8043:0.0:0.067	.	.	.	.	X	7413	.	ENSP00000343764:G7413X	G	-	1	0	TTN	179288189	1.000000	0.71417	0.998000	0.56505	0.991000	0.79684	6.089000	0.71384	0.731000	0.32448	0.655000	0.94253	GGA		0.398	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		32	52	1	0	7.68411e-24	1	8.5683e-24	32	52					A	179579944	C	A	179579944	4	1	435	1	0	0	0	0	0	1	0	0	16732	690	24	5	78652	5	TTN	2	179579944	Nonsense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	2722	179579944	63619429	1399	22324											
TTN	7273	broad.mit.edu	37	chr2	179591839	179591839	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tttactataaccttggtactGcagcttgtgctgccagcggg	7	13	11	10	1	0	0	0	0	0	0	0	0	0	0	2	2	8	4	2	2	4	7			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:179591839G>A	ENST00000591111.1	-	67	19526	c.19302C>T	c.(19300-19302)tgC>tgT	p.C6434C	TTN_ENST00000342992.6_Silent_p.C5507C|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|RP11-171I2.1_ENST00000590024.1_RNA|TTN_ENST00000589042.1_Silent_p.C6751C|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA			Q8WZ42	TITIN_HUMAN	titin	13201	Ig-like 45.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CCTTGGTACTGCAGCTTGTGC	0.418																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(20251-20253)tgC>tgT		titin							119	116	117					2																	179591839		1898	4121	6019	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179591839G>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.19302C>T	2.37:g.179591839G>A						TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Silent_p.C6434C|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Silent_p.C5507C|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000585451.1_RNA	p.C6751C	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		69	20477	-			6434			Ig-like 49.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	ENST00000591111.1	37	c.20253C>T																																																																																					0.418	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		36	57	0	0	0	1	0	36	57					A	179591839	G	A	179591839	2	1	435	1	0	0	0	0	0	0	0	1	16732	1311	46	3		3	TTN	2	179591839	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	11895	179591839	63607534	1400	22325											
TTN	7273	broad.mit.edu	37	chr2	179593390	179593390	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgggaactatttgtttcccGtctttaagccatttcacttt	7	18	6	10	1	2	0	1	0	1	0	3	1	3	1	2	1	2	1	2	1	3	7	rs552531581		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:179593390G>A	ENST00000591111.1	-	64	18536	c.18312C>T	c.(18310-18312)gaC>gaT	p.D6104D	TTN_ENST00000342992.6_Silent_p.D5177D|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|RP11-171I2.1_ENST00000590024.1_RNA|TTN_ENST00000589042.1_Silent_p.D6421D|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA			Q8WZ42	TITIN_HUMAN	titin	12891	Ig-like 42.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTTGTTTCCCGTCTTTAAGCC	0.403													G|||	1	0.000199681	0	0	5008	,	,		20105	0		0	False		,,,				2504	0.001					ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(19261-19263)gaC>gaT		titin							100	89	93					2																	179593390		1851	4099	5950	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179593390G>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.18312C>T	2.37:g.179593390G>A						TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Silent_p.D6104D|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Silent_p.D5177D|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000585451.1_RNA	p.D6421D	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		66	19487	-			6104			Ig-like 45.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	ENST00000591111.1	37	c.19263C>T																																																																																					0.403	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		11	12	0	0	0	1	0	11	12					A	179593390	G	A	179593390	2	1	435	1	0	0	0	0	0	0	0	1	16732	1136	40	1		1	TTN	2	179593390	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	1551	179593390	63605983	1401	22326											
TTN	7273	broad.mit.edu	37	chr2	179594052	179594052	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtactgcatgagcagctgccGccttcattggatacaatgca	10	10	10	11	1	1	1	1	1	0	0	1	2	1	2	2	1	7	5	2	1	3	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:179594052G>A	ENST00000591111.1	-	62	18104	c.17880C>T	c.(17878-17880)ggC>ggT	p.G5960G	TTN_ENST00000342992.6_Silent_p.G5033G|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|RP11-171I2.1_ENST00000590024.1_RNA|TTN_ENST00000589042.1_Silent_p.G6277G|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA			Q8WZ42	TITIN_HUMAN	titin	12751	Ig-like 40.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AGCAGCTGCCGCCTTCATTGG	0.413																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(18829-18831)ggC>ggT		titin							111	108	109					2																	179594052		1890	4125	6015	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179594052G>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.17880C>T	2.37:g.179594052G>A						TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Silent_p.G5960G|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Silent_p.G5033G|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000585451.1_RNA	p.G6277G	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		64	19055	-			5960			Ig-like 44.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	ENST00000591111.1	37	c.18831C>T																																																																																					0.413	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		35	64	0	0	0	1	0	35	64					A	179594052	G	A	179594052	2	1	435	1	0	0	0	0	0	0	0	1	16732	1074	38	1		1	TTN	2	179594052	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	662	179594052	63605321	1402	22327											
TTN	7273	broad.mit.edu	37	chr2	179598396	179598396	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ccagcttcattttcagccagGcacgtgtatttgcctccaaa	9	12	7	13	1	2	0	2	0	0	0	3	0	3	0	4	1	3	3	4	1	2	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:179598396G>A	ENST00000591111.1	-	51	14993	c.14769C>T	c.(14767-14769)tgC>tgT	p.C4923C	TTN_ENST00000342992.6_Silent_p.C3996C|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000589042.1_Silent_p.C5240C|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA			Q8WZ42	TITIN_HUMAN	titin	12314	Ig-like 29.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTTCAGCCAGGCACGTGTATT	0.368																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(15718-15720)tgC>tgT		titin							131	126	127					2																	179598396		1863	4098	5961	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179598396G>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.14769C>T	2.37:g.179598396G>A						TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Silent_p.C4923C|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Silent_p.C3996C|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000585451.1_RNA	p.C5240C	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		53	15944	-			4923			Ig-like 33.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	ENST00000591111.1	37	c.15720C>T																																																																																					0.368	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		30	35	0	0	0	1	0	30	35					A	179598396	G	A	179598396	2	1	435	1	0	0	0	0	0	0	0	1	16732	1195	42	3		3	TTN	2	179598396	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	4344	179598396	63600977	1403	22328											
TTN	7273	broad.mit.edu	37	chr2	179613263	179613263	+	Intron	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tggatctcctatatgagaatAcatttgttttagatcaaata	14	16	6	5	0	2	2	1	1	1	2	3	4	2	3	1	1	1	1	1	1	7	7			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:179613263A>G	ENST00000591111.1	-	45	10585				TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000360870.5_Missense_Mutation_p.Y4622H|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000589042.1_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA			Q8WZ42	TITIN_HUMAN	titin						adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATATGAGAATACATTTGTTTT	0.363																																						ENST00000360870.5																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(13864-13866)Tat>Cat		titin							103	112	109					2																	179613263		2202	4298	6500	SO:0001627	intron_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179613263A>G	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.10360+4587T>C	2.37:g.179613263A>G						TTN_ENST00000589042.1_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Intron|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN-AS1_ENST00000585451.1_RNA	p.Y4622H	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		46	14086	-			741			Ig-like 26.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.13864T>C		.	.	.	.	.	.	.	.	.	.	A	12.30	1.898074	0.33535	.	.	ENSG00000155657	ENST00000360870	T	0.68331	-0.32	5.9	4.74	0.60224	.	.	.	.	.	T	0.53594	0.1806	L	0.29908	0.895	0.80722	D	1	B	0.18166	0.026	B	0.18561	0.022	T	0.41893	-0.9483	9	0.44086	T	0.13	.	10.5079	0.44845	0.823:0.0:0.177:0.0	.	4622	Q8WZ42-6	.	H	4622	ENSP00000354117:Y4622H	ENSP00000354117:Y4622H	Y	-	1	0	TTN	179321508	0.980000	0.34600	0.999000	0.59377	0.266000	0.26442	1.151000	0.31651	0.484000	0.27630	-1.162000	0.01777	TAT		0.363	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		43	76	0	0	0	1	0	43	76					G	179613263	A	G	179613263	1	3	435	0	1	0	0	0	0	0	0	0	16732	391	14	4		4	TTN	2	179613263	Intron	SNP	A	TCGA-XK-AAIW-01A-11D-A41K-08	14867	179613263	63586110	1404	22329											
TTN	7273	broad.mit.edu	37	chr2	179623769	179623769	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acagcattactagcaacaaaCgtgtaagttccttcatcttc	13	12	5	11	1	2	0	1	0	1	0	4	0	3	0	1	0	5	4	1	0	5	6			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:179623769C>T	ENST00000591111.1	-	44	10469	c.10245G>A	c.(10243-10245)acG>acA	p.T3415T	TTN_ENST00000342992.6_Silent_p.T3415T|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000360870.5_Silent_p.T3415T|TTN_ENST00000359218.5_Silent_p.T3369T|TTN_ENST00000460472.2_Silent_p.T3369T|TTN-AS1_ENST00000610005.1_RNA|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000589042.1_Silent_p.T3415T|TTN_ENST00000342175.6_Silent_p.T3369T|TTN-AS1_ENST00000585451.1_RNA			Q8WZ42	TITIN_HUMAN	titin	13731	Ig-like 20.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TAGCAACAAACGTGTAAGTTC	0.388																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(10243-10245)acG>acA		titin							142	130	134					2																	179623769		2203	4300	6503	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179623769C>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.10245G>A	2.37:g.179623769C>T						TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000342175.6_Silent_p.T3369T|TTN_ENST00000360870.5_Silent_p.T3415T|TTN_ENST00000591111.1_Silent_p.T3415T|TTN_ENST00000460472.2_Silent_p.T3369T|TTN_ENST00000342992.6_Silent_p.T3415T|TTN_ENST00000359218.5_Silent_p.T3369T|TTN-AS1_ENST00000578746.1_RNA|TTN-AS1_ENST00000585451.1_RNA	p.T3415T	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		44	10469	-			3128			Ig-like 20.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	ENST00000591111.1	37	c.10245G>A																																																																																					0.388	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		34	40	0	0	0	1	0	34	40					T	179623769	C	T	179623769	2	4	435	1	0	0	0	0	0	0	0	1	16732	523	19	1		1	TTN	2	179623769	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	10506	179623769	63575604	1405	22330											
TTN	7273	broad.mit.edu	37	chr2	179633626	179633626	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atagtgtctttttcttcagcGttgatgtctttcagcatgga	7	18	9	7	1	5	1	2	1	3	0	5	2	5	2	0	1	2	2	0	1	1	6	rs368525666		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:179633626G>A	ENST00000591111.1	-	38	9161	c.8937C>T	c.(8935-8937)aaC>aaT	p.N2979N	TTN_ENST00000342992.6_Silent_p.N2979N|TTN_ENST00000360870.5_Silent_p.N2979N|TTN_ENST00000359218.5_Silent_p.N2933N|TTN_ENST00000460472.2_Silent_p.N2933N|TTN-AS1_ENST00000610005.1_RNA|TTN_ENST00000589042.1_Silent_p.N2979N|TTN_ENST00000342175.6_Silent_p.N2933N|TTN-AS1_ENST00000585451.1_RNA			Q8WZ42	TITIN_HUMAN	titin	13311	Ig-like 17.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.N2933N(3)|p.N2979N(2)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTTCTTCAGCGTTGATGTCTT	0.368																																						ENST00000589042.1																			5	Substitution - coding silent(5)	p.N2933N(3)|p.N2979N(2)	large_intestine(5)	NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(8935-8937)aaC>aaT		titin		G	,,,,	0,4406		0,0,2203	131	122	125		8799,8937,8937,8799,8799	4.3	1	2		125	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	TTN	NM_003319.4,NM_133378.4,NM_133379.3,NM_133432.3,NM_133437.3	,,,,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,,,,	2933/26927,2979/33424,2979/5605,2933/27052,2933/27119	179633626	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179633626G>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.8937C>T	2.37:g.179633626G>A						TTN_ENST00000342175.6_Silent_p.N2933N|TTN_ENST00000360870.5_Silent_p.N2979N|TTN_ENST00000591111.1_Silent_p.N2979N|TTN_ENST00000460472.2_Silent_p.N2933N|TTN_ENST00000342992.6_Silent_p.N2979N|TTN_ENST00000359218.5_Silent_p.N2933N|TTN-AS1_ENST00000585451.1_RNA	p.N2979N	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		38	9161	-			2717			Ig-like 17.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	ENST00000591111.1	37	c.8937C>T																																																																																					0.368	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		18	32	0	0	0	1	0	18	32					A	179633626	G	A	179633626	2	1	435	1	0	0	0	0	0	0	0	1	16732	1136	40	1		1	TTN	2	179633626	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	9857	179633626	63565747	1406	22331											
TTN	7273	broad.mit.edu	37	chr2	179639725	179639725	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgtaatcttcagcatcagacGtatcaatggtcagtatggag	12	12	10	7	1	5	1	4	0	1	1	5	2	5	2	0	2	1	4	0	2	4	4	rs201284459		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:179639725G>A	ENST00000591111.1	-	29	6937	c.6713C>T	c.(6712-6714)aCg>aTg	p.T2238M	TTN_ENST00000342992.6_Missense_Mutation_p.T2238M|TTN_ENST00000360870.5_Missense_Mutation_p.T2238M|TTN_ENST00000359218.5_Missense_Mutation_p.T2192M|TTN_ENST00000460472.2_Missense_Mutation_p.T2192M|TTN-AS1_ENST00000610005.1_RNA|RP11-88L24.4_ENST00000582038.2_RNA|TTN-AS1_ENST00000584485.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.T2238M|TTN_ENST00000342175.6_Missense_Mutation_p.T2192M|TTN-AS1_ENST00000585451.1_RNA			Q8WZ42	TITIN_HUMAN	titin	12565	Ig-like 11.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AGCATCAGACGTATCAATGGT	0.393																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(6712-6714)aCg>aTg		titin							160	149	153					2																	179639725		2203	4300	6503	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179639725G>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.6713C>T	2.37:g.179639725G>A	ENSP00000465570:p.Thr2238Met					TTN_ENST00000342175.6_Missense_Mutation_p.T2192M|TTN_ENST00000360870.5_Missense_Mutation_p.T2238M|TTN_ENST00000591111.1_Missense_Mutation_p.T2238M|TTN_ENST00000460472.2_Missense_Mutation_p.T2192M|TTN_ENST00000342992.6_Missense_Mutation_p.T2238M|TTN_ENST00000359218.5_Missense_Mutation_p.T2192M	p.T2238M	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		29	6937	-			1970			Ig-like 11.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.6713C>T		.	.	.	.	.	.	.	.	.	.	G	7.523	0.657129	0.14580	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127;ENST00000360870	T;T;T;T;T	0.04758	3.56;3.56;3.56;3.56;3.56	5.62	2.43	0.29744	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.01835	0.0058	N	0.01405	-0.89	0.09310	N	1	B;B;B;B;B	0.12013	0.002;0.002;0.002;0.002;0.005	B;B;B;B;B	0.08055	0.002;0.002;0.002;0.002;0.003	T	0.44544	-0.9321	9	0.87932	D	0	.	4.1654	0.10305	0.3948:0.0:0.4485:0.1567	.	2192;2192;2192;2238;2238	D3DPF9;E7EQE6;E7ET18;Q8WZ42;Q8WZ42-6	.;.;.;TITIN_HUMAN;.	M	2238;2192;2192;2192;2192;2238	ENSP00000343764:T2238M;ENSP00000434586:T2192M;ENSP00000340554:T2192M;ENSP00000352154:T2192M;ENSP00000354117:T2238M	ENSP00000340554:T2192M	T	-	2	0	TTN	179347970	0.099000	0.21834	0.000000	0.03702	0.781000	0.44180	2.701000	0.47094	0.333000	0.23563	-1.151000	0.01829	ACG		0.393	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		10	40	0	0	0	1	0	10	40					A	179639725	G	A	179639725	3	1	435	1	0	0	0	0	1	0	0	0	16732	1145	40	1	104611	1	TTN	2	179639725	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	6099	179639725	63559648	1407	22332											
TTN	7273	broad.mit.edu	37	chr2	179640133	179640133	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tttctccagctatgttgatgGcttttaccatgatgctggca	7	16	9	9	0	1	2	0	2	1	0	2	2	1	2	2	2	3	5	2	2	2	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:179640133G>A	ENST00000591111.1	-	28	6682	c.6458C>T	c.(6457-6459)gCc>gTc	p.A2153V	TTN_ENST00000342992.6_Missense_Mutation_p.A2153V|TTN_ENST00000360870.5_Missense_Mutation_p.A2153V|TTN_ENST00000359218.5_Missense_Mutation_p.A2107V|TTN_ENST00000460472.2_Missense_Mutation_p.A2107V|TTN-AS1_ENST00000610005.1_RNA|RP11-88L24.4_ENST00000582038.2_RNA|TTN-AS1_ENST00000584485.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.A2153V|TTN_ENST00000342175.6_Missense_Mutation_p.A2107V|TTN-AS1_ENST00000585451.1_RNA			Q8WZ42	TITIN_HUMAN	titin	12482	Ig-like 10.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TATGTTGATGGCTTTTACCAT	0.448																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(6457-6459)gCc>gTc		titin							108	100	102					2																	179640133		2203	4300	6503	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179640133G>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.6458C>T	2.37:g.179640133G>A	ENSP00000465570:p.Ala2153Val					TTN_ENST00000342175.6_Missense_Mutation_p.A2107V|TTN_ENST00000360870.5_Missense_Mutation_p.A2153V|TTN_ENST00000591111.1_Missense_Mutation_p.A2153V|TTN_ENST00000460472.2_Missense_Mutation_p.A2107V|TTN_ENST00000342992.6_Missense_Mutation_p.A2153V|TTN_ENST00000359218.5_Missense_Mutation_p.A2107V	p.A2153V	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		28	6682	-			1914			Ig-like 10.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.6458C>T		.	.	.	.	.	.	.	.	.	.	G	13.66	2.302431	0.40694	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127;ENST00000360870	T;T;T;T;T	0.72505	-0.66;-0.66;-0.66;-0.66;-0.66	5.27	5.27	0.74061	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.84092	0.5396	M	0.72353	2.195	0.45076	D	0.99809	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.87578	0.998;0.998;0.998;0.998;0.998	D	0.85792	0.1368	9	0.87932	D	0	.	18.8847	0.92372	0.0:0.0:1.0:0.0	.	2107;2107;2107;2153;2153	D3DPF9;E7EQE6;E7ET18;Q8WZ42;Q8WZ42-6	.;.;.;TITIN_HUMAN;.	V	2153;2107;2107;2107;2107;2153	ENSP00000343764:A2153V;ENSP00000434586:A2107V;ENSP00000340554:A2107V;ENSP00000352154:A2107V;ENSP00000354117:A2153V	ENSP00000340554:A2107V	A	-	2	0	TTN	179348378	1.000000	0.71417	0.992000	0.48379	0.910000	0.53928	9.835000	0.99442	2.468000	0.83385	0.655000	0.94253	GCC		0.448	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		9	39	0	0	0	1	0	9	39					A	179640133	G	A	179640133	3	1	435	1	0	0	0	0	1	0	0	0	16732	1203	42	3	104870	3	TTN	2	179640133	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	408	179640133	63559240	1408	22333											
TTN	7273	broad.mit.edu	37	chr2	179641415	179641415	+	Silent	SNP	G	G	A																															tgggtcaccaatgggtgttaGcctgcattcaaagtgggcag																										TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:179641415G>A	ENST00000591111.1	-	28	5400	c.5176C>T	c.(5176-5178)Cta>Tta	p.L1726L	TTN_ENST00000342992.6_Silent_p.L1726L|TTN_ENST00000360870.5_Silent_p.L1726L|TTN_ENST00000359218.5_Silent_p.L1680L|TTN_ENST00000460472.2_Silent_p.L1680L|TTN-AS1_ENST00000610005.1_RNA|RP11-88L24.4_ENST00000582038.2_RNA|TTN-AS1_ENST00000584485.1_RNA|TTN_ENST00000589042.1_Silent_p.L1726L|TTN_ENST00000342175.6_Silent_p.L1680L|TTN-AS1_ENST00000585451.1_RNA			Q8WZ42	TITIN_HUMAN	titin	12561	Ig-like 8.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATGGGTGTTAGCCTGCATTCA	0.453																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(5176-5178)Cta>Tta		titin							77	69	72					2																	179641415		2203	4300	6503	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179641415G>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.5176C>T	2.37:g.179641415G>A						TTN_ENST00000342175.6_Silent_p.L1680L|TTN_ENST00000360870.5_Silent_p.L1726L|TTN_ENST00000591111.1_Silent_p.L1726L|TTN_ENST00000460472.2_Silent_p.L1680L|TTN_ENST00000342992.6_Silent_p.L1726L|TTN_ENST00000359218.5_Silent_p.L1680L	p.L1726L	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		28	5400	-			1480			Ig-like 8.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	ENST00000591111.1	37	c.5176C>T																																																																																					0.453	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		8	43	0	0	0	1	0	8	43					A	179641415	G	A	179641415	2	1	435	1	0	0	0	0	0	0	0	1	16732	962	34	3		3	TTN	2	179641415	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	1282	179641415	63557958	1409	22334	112	2									
TTN	7273	broad.mit.edu	37	chr2	179641420	179641420	+	Missense_Mutation	SNP	C	C	T																															caccaatgggtgttagcctgCattcaaagtgggcaggccca																										TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:179641420C>T	ENST00000591111.1	-	28	5395	c.5171G>A	c.(5170-5172)tGc>tAc	p.C1724Y	TTN_ENST00000342992.6_Missense_Mutation_p.C1724Y|TTN_ENST00000360870.5_Missense_Mutation_p.C1724Y|TTN_ENST00000359218.5_Missense_Mutation_p.C1678Y|TTN_ENST00000460472.2_Missense_Mutation_p.C1678Y|TTN-AS1_ENST00000610005.1_RNA|RP11-88L24.4_ENST00000582038.2_RNA|TTN-AS1_ENST00000584485.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.C1724Y|TTN_ENST00000342175.6_Missense_Mutation_p.C1678Y|TTN-AS1_ENST00000585451.1_RNA			Q8WZ42	TITIN_HUMAN	titin	12559	Ig-like 8.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGTTAGCCTGCATTCAAAGTG	0.453																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(5170-5172)tGc>tAc		titin							78	70	73					2																	179641420		2203	4300	6503	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179641420C>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.5171G>A	2.37:g.179641420C>T	ENSP00000465570:p.Cys1724Tyr					TTN_ENST00000342175.6_Missense_Mutation_p.C1678Y|TTN_ENST00000360870.5_Missense_Mutation_p.C1724Y|TTN_ENST00000591111.1_Missense_Mutation_p.C1724Y|TTN_ENST00000460472.2_Missense_Mutation_p.C1678Y|TTN_ENST00000342992.6_Missense_Mutation_p.C1724Y|TTN_ENST00000359218.5_Missense_Mutation_p.C1678Y	p.C1724Y	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		28	5395	-			1478			Ig-like 8.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.5171G>A		.	.	.	.	.	.	.	.	.	.	C	11.14	1.550912	0.27739	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127;ENST00000360870	T;T;T;T;T	0.80909	-1.43;-1.43;-1.43;-1.43;-1.43	5.2	5.2	0.72013	Immunoglobulin I-set (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.92361	0.7576	M	0.92691	3.335	0.44500	D	0.997446	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.999;0.999;0.999;0.999;0.999	D	0.94074	0.7338	9	0.87932	D	0	.	18.7492	0.91807	0.0:1.0:0.0:0.0	.	1678;1678;1678;1724;1724	D3DPF9;E7EQE6;E7ET18;Q8WZ42;Q8WZ42-6	.;.;.;TITIN_HUMAN;.	Y	1724;1678;1678;1678;1678;1724	ENSP00000343764:C1724Y;ENSP00000434586:C1678Y;ENSP00000340554:C1678Y;ENSP00000352154:C1678Y;ENSP00000354117:C1724Y	ENSP00000340554:C1678Y	C	-	2	0	TTN	179349665	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.688000	0.84153	2.453000	0.82957	0.561000	0.74099	TGC		0.453	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		24	30	0	0	0	1	0	24	30					T	179641420	C	T	179641420	3	4	435	1	0	0	0	0	1	0	0	0	16732	710	25	3	106157	3	TTN	2	179641420	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	5	179641420	63557953	1410	22335	112	2									
ITGA4	3676	broad.mit.edu	37	chr2	182347362	182347362	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggaaggaagagtgtttgtgtAcatcaactctggctcggtat	10	12	13	6	1	2	1	1	0	1	1	3	3	2	3	0	4	2	4	0	4	5	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:182347362A>G	ENST00000397033.2	+	9	1455	c.1025A>G	c.(1024-1026)tAc>tGc	p.Y342C		NM_000885.4	NP_000876.3	P13612	ITA4_HUMAN	integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor)	342					B cell differentiation (GO:0030183)|blood coagulation (GO:0007596)|blood vessel remodeling (GO:0001974)|cell-matrix adhesion (GO:0007160)|cell-matrix adhesion involved in ameboidal cell migration (GO:0003366)|chorio-allantoic fusion (GO:0060710)|endodermal cell differentiation (GO:0035987)|extracellular matrix organization (GO:0030198)|face development (GO:0060324)|heart development (GO:0007507)|heterophilic cell-cell adhesion (GO:0007157)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte tethering or rolling (GO:0050901)|negative regulation of protein homodimerization activity (GO:0090074)|receptor clustering (GO:0043113)|regulation of immune response (GO:0050776)|substrate adhesion-dependent cell spreading (GO:0034446)|T cell migration (GO:0072678)	cell surface (GO:0009986)|cell-cell junction (GO:0005911)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integrin alpha4-beta7 complex (GO:0034669)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|metal ion binding (GO:0046872)			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.0593)		Natalizumab(DB00108)|Tinzaparin(DB06822)	GTGTTTGTGTACATCAACTCT	0.473																																						ENST00000397033.2																			0				breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58						c.(1024-1026)tAc>tGc		integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor)	Natalizumab(DB00108)						128	126	126					2																	182347362		1981	4161	6142	SO:0001583	missense	3676				blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response	integrin complex	identical protein binding|receptor activity	g.chr2:182347362A>G		CCDS42788.1	2q31-q32	2010-03-23			ENSG00000115232	ENSG00000115232		"CD molecules", "Integrins"	6140	protein-coding gene	gene with protein product		192975		CD49D		1537388	Standard	NM_000885		Approved	CD49d	uc002unu.3	P13612	OTTHUMG00000154212	ENST00000397033.2:c.1025A>G	2.37:g.182347362A>G	ENSP00000380227:p.Tyr342Cys						p.Y342C	NM_000885.4	NP_000876.3	P13612	ITA4_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0593)		9	1455	+			342					D3DPG4|Q7Z4L6	Missense_Mutation	SNP	ENST00000397033.2	37	c.1025A>G	CCDS42788.1	.	.	.	.	.	.	.	.	.	.	A	19.53	3.845497	0.71603	.	.	ENSG00000115232	ENST00000425522;ENST00000397033;ENST00000233573	T;T	0.16597	2.33;2.33	5.81	4.63	0.57726	.	0.000000	0.85682	D	0.000000	T	0.39733	0.1089	M	0.72353	2.195	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79108	0.992;0.981	T	0.19614	-1.0300	10	0.66056	D	0.02	.	12.1555	0.54074	0.8716:0.0:0.0:0.1284	.	342;342	E7EP60;P13612	.;ITA4_HUMAN	C	342	ENSP00000380227:Y342C;ENSP00000233573:Y342C	ENSP00000233573:Y342C	Y	+	2	0	ITGA4	182055607	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	6.047000	0.71038	0.979000	0.38497	0.528000	0.53228	TAC		0.473	ITGA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334427.1			15	74	0	0	0	1	0	15	74					G	182347362	A	G	182347362	3	3	435	1	0	0	0	0	1	0	0	0	7878	391	14	4	1059	4	ITGA4	2	182347362	Missense_Mutation	SNP	A	TCGA-XK-AAIW-01A-11D-A41K-08	2705942	182347362	60852011	1411	22336											
NEUROD1	4760	broad.mit.edu	37	chr2	182542533	182542533	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gcctctaatcatgaaatatgGcattgagctgggcactcatg	11	11	10	9	0	3	2	2	2	1	0	3	2	3	2	1	2	1	3	1	2	3	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:182542533G>A	ENST00000295108.3	-	2	1512	c.1055C>T	c.(1054-1056)gCc>gTc	p.A352V	CERKL_ENST00000479558.1_Intron|NEUROD1_ENST00000496876.1_Intron	NM_002500.4	NP_002491.2	Q13562	NDF1_HUMAN	neuronal differentiation 1	352					amacrine cell differentiation (GO:0035881)|anterior/posterior pattern specification (GO:0009952)|cellular response to glucose stimulus (GO:0071333)|cerebellum development (GO:0021549)|dentate gyrus development (GO:0021542)|embryonic organ morphogenesis (GO:0048562)|endocrine pancreas development (GO:0031018)|enteroendocrine cell differentiation (GO:0035883)|glucose homeostasis (GO:0042593)|inner ear development (GO:0048839)|insulin secretion (GO:0030073)|negative regulation of JAK-STAT cascade (GO:0046426)|negative regulation of type B pancreatic cell apoptotic process (GO:2000675)|neurogenesis (GO:0022008)|nitric oxide mediated signal transduction (GO:0007263)|nucleocytoplasmic transport (GO:0006913)|pancreatic A cell fate commitment (GO:0003326)|pancreatic PP cell fate commitment (GO:0003329)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell differentiation (GO:0045597)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription regulatory region DNA binding (GO:2000679)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell cycle arrest (GO:0071156)|regulation of insulin secretion (GO:0050796)|regulation of intestinal epithelial structure maintenance (GO:0060730)|response to drug (GO:0042493)|response to glucose (GO:0009749)|signal transduction involved in regulation of gene expression (GO:0023019)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|E-box binding (GO:0070888)|protein heterodimerization activity (GO:0046982)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II transcription coactivator activity (GO:0001105)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25			OV - Ovarian serous cystadenocarcinoma(117;0.088)			ATGAAATATGGCATTGAGCTG	0.507																																						ENST00000295108.3																			0				endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						c.(1054-1056)gCc>gTc		neuronal differentiation 1							154	148	150					2																	182542533		2203	4300	6503	SO:0001583	missense	4760				amacrine cell differentiation|cerebellum development|dentate gyrus development|embryonic organ morphogenesis|enteroendocrine cell differentiation|glucose homeostasis|inner ear development|insulin secretion|negative regulation of apoptosis|nitric oxide mediated signal transduction|positive regulation of apoptosis|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of cell cycle arrest|regulation of intestinal epithelial structure maintenance|response to glucose stimulus	cytoplasm|nucleus	chromatin binding|E-box binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding	g.chr2:182542533G>A	U50823	CCDS2283.1	2q32	2013-05-21	2012-02-22		ENSG00000162992	ENSG00000162992		"Basic helix-loop-helix proteins"	7762	protein-coding gene	gene with protein product	"beta-cell E-box transactivator 2", "neurogenic helix-loop-helix protein NEUROD"	601724	"neurogenic differentiation 1"	NEUROD		7754368, 8786144	Standard	NM_002500		Approved	BETA2, BHF-1, NeuroD, bHLHa3, MODY6	uc002uof.4	Q13562	OTTHUMG00000132583	ENST00000295108.3:c.1055C>T	2.37:g.182542533G>A	ENSP00000295108:p.Ala352Val					CERKL_ENST00000479558.1_Intron|NEUROD1_ENST00000496876.1_Intron	p.A352V	NM_002500.4	NP_002491.2	Q13562	NDF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.088)		2	1512	-			352					B2R9I8|F1T0E1|O00343|Q13340|Q5U095|Q96TH0|Q99455|Q9UEC8	Missense_Mutation	SNP	ENST00000295108.3	37	c.1055C>T	CCDS2283.1	.	.	.	.	.	.	.	.	.	.	G	19.00	3.740871	0.69304	.	.	ENSG00000162992	ENST00000295108	D	0.97352	-4.35	5.6	5.6	0.85130	.	0.050689	0.85682	D	0.000000	D	0.97823	0.9285	M	0.72353	2.195	0.58432	D	0.999998	P	0.52316	0.952	P	0.55615	0.78	D	0.98440	1.0586	10	0.87932	D	0	-0.268	19.611	0.95606	0.0:0.0:1.0:0.0	.	352	Q13562	NDF1_HUMAN	V	352	ENSP00000295108:A352V	ENSP00000295108:A352V	A	-	2	0	NEUROD1	182250778	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.990000	0.88215	2.625000	0.88918	0.650000	0.86243	GCC		0.507	NEUROD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255792.2	NM_002500		55	96	0	0	0	1	0	55	96					A	182542533	G	A	182542533	3	1	435	1	0	0	0	0	1	0	0	0	10348	1203	42	3	19	3	NEUROD1	2	182542533	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	195171	182542533	60656840	1412	22337											
NEUROD1	4760	broad.mit.edu	37	chr2	182542961	182542961	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acagggaaggaagcgctggcCgtcggcaggtgggggggcat	8	4	21	8	3	0	0	0	0	0	0	1	2	0	2	1	8	1	3	1	8	2	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:182542961C>T	ENST00000295108.3	-	2	1084	c.627G>A	c.(625-627)acG>acA	p.T209T	CERKL_ENST00000479558.1_Intron|NEUROD1_ENST00000496876.1_Intron	NM_002500.4	NP_002491.2	Q13562	NDF1_HUMAN	neuronal differentiation 1	209					amacrine cell differentiation (GO:0035881)|anterior/posterior pattern specification (GO:0009952)|cellular response to glucose stimulus (GO:0071333)|cerebellum development (GO:0021549)|dentate gyrus development (GO:0021542)|embryonic organ morphogenesis (GO:0048562)|endocrine pancreas development (GO:0031018)|enteroendocrine cell differentiation (GO:0035883)|glucose homeostasis (GO:0042593)|inner ear development (GO:0048839)|insulin secretion (GO:0030073)|negative regulation of JAK-STAT cascade (GO:0046426)|negative regulation of type B pancreatic cell apoptotic process (GO:2000675)|neurogenesis (GO:0022008)|nitric oxide mediated signal transduction (GO:0007263)|nucleocytoplasmic transport (GO:0006913)|pancreatic A cell fate commitment (GO:0003326)|pancreatic PP cell fate commitment (GO:0003329)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell differentiation (GO:0045597)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription regulatory region DNA binding (GO:2000679)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell cycle arrest (GO:0071156)|regulation of insulin secretion (GO:0050796)|regulation of intestinal epithelial structure maintenance (GO:0060730)|response to drug (GO:0042493)|response to glucose (GO:0009749)|signal transduction involved in regulation of gene expression (GO:0023019)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|E-box binding (GO:0070888)|protein heterodimerization activity (GO:0046982)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II transcription coactivator activity (GO:0001105)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25			OV - Ovarian serous cystadenocarcinoma(117;0.088)			AAGCGCTGGCCGTCGGCAGGT	0.612																																						ENST00000295108.3																			0				endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						c.(625-627)acG>acA		neuronal differentiation 1							54	64	61					2																	182542961		2203	4300	6503	SO:0001819	synonymous_variant	4760				amacrine cell differentiation|cerebellum development|dentate gyrus development|embryonic organ morphogenesis|enteroendocrine cell differentiation|glucose homeostasis|inner ear development|insulin secretion|negative regulation of apoptosis|nitric oxide mediated signal transduction|positive regulation of apoptosis|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of cell cycle arrest|regulation of intestinal epithelial structure maintenance|response to glucose stimulus	cytoplasm|nucleus	chromatin binding|E-box binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding	g.chr2:182542961C>T	U50823	CCDS2283.1	2q32	2013-05-21	2012-02-22		ENSG00000162992	ENSG00000162992		"Basic helix-loop-helix proteins"	7762	protein-coding gene	gene with protein product	"beta-cell E-box transactivator 2", "neurogenic helix-loop-helix protein NEUROD"	601724	"neurogenic differentiation 1"	NEUROD		7754368, 8786144	Standard	NM_002500		Approved	BETA2, BHF-1, NeuroD, bHLHa3, MODY6	uc002uof.4	Q13562	OTTHUMG00000132583	ENST00000295108.3:c.627G>A	2.37:g.182542961C>T						CERKL_ENST00000479558.1_Intron|NEUROD1_ENST00000496876.1_Intron	p.T209T	NM_002500.4	NP_002491.2	Q13562	NDF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.088)		2	1084	-			209					B2R9I8|F1T0E1|O00343|Q13340|Q5U095|Q96TH0|Q99455|Q9UEC8	Silent	SNP	ENST00000295108.3	37	c.627G>A	CCDS2283.1																																																																																				0.612	NEUROD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255792.2	NM_002500		17	33	0	0	0	1	0	17	33					T	182542961	C	T	182542961	2	4	435	1	0	0	0	0	0	0	0	1	10348	639	23	2		2	NEUROD1	2	182542961	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	428	182542961	60656412	1413	22338											
NCKAP1	10787	broad.mit.edu	37	chr2	183821199	183821199	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttctttcttacttggtaaagCgtatttccagatgagaagtc	10	16	8	7	1	2	2	0	1	2	2	4	3	3	2	1	1	2	2	1	1	5	7			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:183821199C>T	ENST00000361354.4	-	20	2516	c.2144G>A	c.(2143-2145)cGc>cAc	p.R715H	NCKAP1_ENST00000360982.2_Missense_Mutation_p.R721H	NM_013436.3	NP_038464.1	Q9Y2A7	NCKP1_HUMAN	NCK-associated protein 1	715					apical protein localization (GO:0045176)|apoptotic process (GO:0006915)|basal protein localization (GO:0045175)|central nervous system development (GO:0007417)|embryonic body morphogenesis (GO:0010172)|embryonic foregut morphogenesis (GO:0048617)|embryonic heart tube development (GO:0035050)|endoderm development (GO:0007492)|establishment or maintenance of actin cytoskeleton polarity (GO:0030950)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|lamellipodium assembly (GO:0030032)|mesodermal cell migration (GO:0008078)|neural tube closure (GO:0001843)|notochord morphogenesis (GO:0048570)|paraxial mesoderm morphogenesis (GO:0048340)|positive regulation of Arp2/3 complex-mediated actin nucleation (GO:2000601)|positive regulation of lamellipodium assembly (GO:0010592)|protein stabilization (GO:0050821)|Rac protein signal transduction (GO:0016601)|regulation of protein localization (GO:0032880)|somitogenesis (GO:0001756)|zygotic determination of anterior/posterior axis, embryo (GO:0007354)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|SCAR complex (GO:0031209)	protein complex binding (GO:0032403)			breast(3)|cervix(2)|endometrium(3)|kidney(4)|large_intestine(11)|lung(16)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	45			OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)			CTTGGTAAAGCGTATTTCCAG	0.318																																						ENST00000360982.2																			0				breast(3)|cervix(2)|endometrium(3)|kidney(4)|large_intestine(11)|lung(16)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	45						c.(2161-2163)cGc>cAc		NCK-associated protein 1							106	109	108					2																	183821199		2203	4300	6503	SO:0001583	missense	10787				apoptosis|central nervous system development	integral to membrane|lamellipodium membrane	protein binding	g.chr2:183821199C>T	AB014509	CCDS2287.1, CCDS2288.1	2q32	2009-08-14			ENSG00000061676	ENSG00000061676			7666	protein-coding gene	gene with protein product		604891				10673335, 12181570, 9344857	Standard	NM_013436		Approved	Nap1, HEM2, NAP125	uc002upb.4	Q9Y2A7	OTTHUMG00000132623	ENST00000361354.4:c.2144G>A	2.37:g.183821199C>T	ENSP00000355348:p.Arg715His					NCKAP1_ENST00000361354.3_Missense_Mutation_p.R715H	p.R721H	NM_205842.1	NP_995314.1	Q9Y2A7	NCKP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)		21	2920	-			715					O60329|Q53QN5|Q53S94|Q53Y35	Missense_Mutation	SNP	ENST00000361354.4	37	c.2162G>A	CCDS2287.1	.	.	.	.	.	.	.	.	.	.	C	29.6	5.020005	0.93462	.	.	ENSG00000061676	ENST00000361354;ENST00000360982	T;T	0.33438	1.41;1.41	4.59	4.59	0.56863	.	0.000000	0.85682	D	0.000000	T	0.60958	0.2309	M	0.84511	2.7	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.993	T	0.68432	-0.5410	10	0.56958	D	0.05	-5.0729	17.4209	0.87515	0.0:1.0:0.0:0.0	.	715;721	Q9Y2A7;Q9Y2A7-2	NCKP1_HUMAN;.	H	715;721	ENSP00000355348:R715H;ENSP00000354251:R721H	ENSP00000354251:R721H	R	-	2	0	NCKAP1	183529444	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.747000	0.85070	2.100000	0.63781	0.650000	0.86243	CGC		0.318	NCKAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255867.2	NM_205842		39	85	0	0	0	1	0	39	85					T	183821199	C	T	183821199	3	4	435	1	0	0	0	0	1	0	0	0	10221	768	27	1	1290	1	NCKAP1	2	183821199	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	1278238	183821199	59378174	1414	22339											
DUSP19	142679	broad.mit.edu	37	chr2	183951789	183951789	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgactcatattcttaatgttGcatatggagttgaaaatgct	12	16	8	5	0	2	2	1	2	1	0	2	3	2	3	0	1	2	4	0	1	5	6			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:183951789G>A	ENST00000354221.4	+	3	470	c.295G>A	c.(295-297)Gca>Aca	p.A99T	AC064871.3_ENST00000444562.1_RNA|DUSP19_ENST00000342619.6_Intron|DUSP19_ENST00000469344.1_Intron	NM_080876.3	NP_543152.1	Q8WTR2	DUS19_HUMAN	dual specificity phosphatase 19	99					inactivation of MAPK activity (GO:0000188)|JNK cascade (GO:0007254)|negative regulation of JNK cascade (GO:0046329)|negative regulation of JUN kinase activity (GO:0043508)|negative regulation of protein kinase activity (GO:0006469)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of protein kinase activity (GO:0045860)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)	JUN kinase phosphatase activity (GO:0008579)|MAP-kinase scaffold activity (GO:0005078)|mitogen-activated protein kinase kinase kinase binding (GO:0031435)|protein kinase activator activity (GO:0030295)|protein kinase inhibitor activity (GO:0004860)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/threonine phosphatase activity (GO:0008330)			breast(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(4)|pancreas(1)	17						TCTTAATGTTGCATATGGAGT	0.338																																						ENST00000354221.4																			0				breast(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(4)|pancreas(1)	17						c.(295-297)Gca>Aca		dual specificity phosphatase 19							106	106	106					2																	183951789		2202	4299	6501	SO:0001583	missense	0				JNK cascade|negative regulation of JNK cascade|negative regulation of JUN kinase activity|positive regulation of JNK cascade|positive regulation of JUN kinase activity	cytoplasm	JUN kinase phosphatase activity|MAP-kinase scaffold activity|mitogen-activated protein kinase kinase kinase binding|protein kinase activator activity|protein kinase inhibitor activity|protein tyrosine phosphatase activity	g.chr2:183951789G>A	AB038770	CCDS2289.1, CCDS46469.1	2q32.1	2011-06-09			ENSG00000162999	ENSG00000162999		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Atypical dual specificity phosphatases"	18894	protein-coding gene	gene with protein product		611437					Standard	NM_080876		Approved	SKRP1, DUSP17	uc002upd.3	Q8WTR2	OTTHUMG00000132622	ENST00000354221.4:c.295G>A	2.37:g.183951789G>A	ENSP00000346160:p.Ala99Thr					DUSP19_ENST00000469344.1_Intron|AC064871.3_ENST00000444562.1_RNA|DUSP19_ENST00000342619.6_Intron	p.A99T	NM_080876.3	NP_543152.1	Q8WTR2	DUS19_HUMAN			3	470	+			99					B2RA79|Q547H4|Q8WYN4	Missense_Mutation	SNP	ENST00000354221.4	37	c.295G>A	CCDS2289.1	.	.	.	.	.	.	.	.	.	.	g	33	5.226377	0.95173	.	.	ENSG00000162999	ENST00000354221	T	0.58797	0.31	5.38	5.38	0.77491	Dual specificity phosphatase, catalytic domain (1);Dual specificity phosphatase, subgroup, catalytic domain (2);	0.000000	0.85682	D	0.000000	T	0.67277	0.2876	L	0.42245	1.32	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.58261	-0.7667	10	0.06625	T	0.88	.	19.5054	0.95113	0.0:0.0:1.0:0.0	.	99	Q8WTR2	DUS19_HUMAN	T	99	ENSP00000346160:A99T	ENSP00000346160:A99T	A	+	1	0	DUSP19	183660034	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.691000	0.91279	2.674000	0.91012	0.651000	0.88453	GCA		0.338	DUSP19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255866.1			30	33	0	0	0	1	0	30	33					A	183951789	G	A	183951789	3	1	435	1	0	0	0	0	1	0	0	0	4818	1319	46	3	305	3	DUSP19	2	183951789	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	130590	183951789	59247584	1415	22340											
ZNF804A	91752	broad.mit.edu	37	chr2	185803052	185803052	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tttgccattatgaactggctGaggcccttccacaaggaaag	11	10	10	10	0	0	2	0	2	0	0	1	3	1	3	3	3	2	1	3	3	4	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:185803052G>A	ENST00000302277.6	+	4	3523	c.2929G>A	c.(2929-2931)Gag>Aag	p.E977K		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	977							metal ion binding (GO:0046872)			NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						TGAACTGGCTGAGGCCCTTCC	0.398																																						ENST00000302277.6																			0				NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						c.(2929-2931)Gag>Aag		zinc finger protein 804A							100	96	97					2																	185803052		2203	4300	6503	SO:0001583	missense	91752					intracellular	zinc ion binding	g.chr2:185803052G>A	AF052145	CCDS2291.1	2q32.1	2012-10-05	2006-10-27	2006-10-27	ENSG00000170396	ENSG00000170396			21711	protein-coding gene	gene with protein product		612282		C2orf10		12970790	Standard	NM_194250		Approved		uc002uph.3	Q7Z570	OTTHUMG00000132625	ENST00000302277.6:c.2929G>A	2.37:g.185803052G>A	ENSP00000303252:p.Glu977Lys						p.E977K	NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN			4	3523	+			977					A7E253|Q6ZN26	Missense_Mutation	SNP	ENST00000302277.6	37	c.2929G>A	CCDS2291.1	.	.	.	.	.	.	.	.	.	.	G	13.19	2.162742	0.38217	.	.	ENSG00000170396	ENST00000302277	T	0.08370	3.1	5.14	4.25	0.50352	.	0.118731	0.37348	N	0.002130	T	0.19805	0.0476	L	0.57536	1.79	0.33388	D	0.575729	D	0.52996	0.957	P	0.56865	0.808	T	0.21211	-1.0252	10	0.66056	D	0.02	-10.1567	13.0638	0.59022	0.0:0.1614:0.8386:0.0	.	977	Q7Z570	Z804A_HUMAN	K	977	ENSP00000303252:E977K	ENSP00000303252:E977K	E	+	1	0	ZNF804A	185511297	0.997000	0.39634	0.990000	0.47175	0.473000	0.32948	2.786000	0.47790	1.119000	0.41883	0.467000	0.42956	GAG		0.398	ZNF804A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255871.1	NM_194250		38	62	0	0	0	1	0	38	62					A	185803052	G	A	185803052	3	1	435	1	0	0	0	0	1	0	0	0	18167	1291	45	3	2943	3	ZNF804A	2	185803052	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	1851263	185803052	57396321	1416	22341											
ZNF804A	91752	broad.mit.edu	37	chr2	185803109	185803109	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgagtggctgcgttataatTcaggaatccttaacacacaa	13	11	8	9	1	1	1	1	1	0	0	2	2	2	2	1	2	2	2	1	2	5	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:185803109T>C	ENST00000302277.6	+	4	3580	c.2986T>C	c.(2986-2988)Tca>Cca	p.S996P		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	996							metal ion binding (GO:0046872)			NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						GCGTTATAATTCAGGAATCCT	0.433																																						ENST00000302277.6																			0				NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						c.(2986-2988)Tca>Cca		zinc finger protein 804A							106	99	101					2																	185803109		2203	4300	6503	SO:0001583	missense	91752					intracellular	zinc ion binding	g.chr2:185803109T>C	AF052145	CCDS2291.1	2q32.1	2012-10-05	2006-10-27	2006-10-27	ENSG00000170396	ENSG00000170396			21711	protein-coding gene	gene with protein product		612282		C2orf10		12970790	Standard	NM_194250		Approved		uc002uph.3	Q7Z570	OTTHUMG00000132625	ENST00000302277.6:c.2986T>C	2.37:g.185803109T>C	ENSP00000303252:p.Ser996Pro						p.S996P	NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN			4	3580	+			996					A7E253|Q6ZN26	Missense_Mutation	SNP	ENST00000302277.6	37	c.2986T>C	CCDS2291.1	.	.	.	.	.	.	.	.	.	.	T	15.00	2.702794	0.48307	.	.	ENSG00000170396	ENST00000302277	T	0.06849	3.25	5.14	2.71	0.32032	.	0.178558	0.27155	N	0.020680	T	0.08670	0.0215	L	0.57536	1.79	0.30996	N	0.720888	B	0.14012	0.009	B	0.15052	0.012	T	0.09271	-1.0682	10	0.37606	T	0.19	-4.1302	6.0467	0.19764	0.0:0.1516:0.1385:0.7099	.	996	Q7Z570	Z804A_HUMAN	P	996	ENSP00000303252:S996P	ENSP00000303252:S996P	S	+	1	0	ZNF804A	185511354	0.987000	0.35691	0.962000	0.40283	0.782000	0.44232	0.703000	0.25646	0.269000	0.21961	0.383000	0.25322	TCA		0.433	ZNF804A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255871.1	NM_194250		46	61	0	0	0	1	0	46	61					C	185803109	T	C	185803109	3	2	435	1	0	0	0	0	1	0	0	0	18167	1783	62	4	3000	4	ZNF804A	2	185803109	Missense_Mutation	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	57	185803109	57396264	1417	22342											
GULP1	51454	broad.mit.edu	37	chr2	189448999	189448999	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	attttcattgcaggcaggcaGtatgacacctaagtcgccct	10	11	9	11	1	1	1	1	1	0	0	2	1	1	1	2	2	1	4	2	2	2	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:189448999G>A	ENST00000409580.1	+	11	1331	c.617G>A	c.(616-618)aGt>aAt	p.S206N	GULP1_ENST00000409609.1_Missense_Mutation_p.S206N|GULP1_ENST00000409830.1_Missense_Mutation_p.S206N|GULP1_ENST00000409805.1_Missense_Mutation_p.S103N|GULP1_ENST00000359135.3_Missense_Mutation_p.S206N|GULP1_ENST00000409843.1_Missense_Mutation_p.S206N			Q9UBP9	GULP1_HUMAN	GULP, engulfment adaptor PTB domain containing 1	206					apoptotic process (GO:0006915)|lipid transport (GO:0006869)|phagocytosis, engulfment (GO:0006911)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	signal transducer activity (GO:0004871)			endometrium(3)|large_intestine(2)|lung(5)|ovary(1)|skin(2)	13			OV - Ovarian serous cystadenocarcinoma(117;0.0423)|Epithelial(96;0.158)			CAGGCAGGCAGTATGACACCT	0.363																																					Pancreas(178;563 2065 20199 42378 52815)	ENST00000409580.1																			0				endometrium(3)|large_intestine(2)|lung(5)|ovary(1)|skin(2)	13						c.(616-618)aGt>aAt		GULP, engulfment adaptor PTB domain containing 1							221	194	203					2																	189448999		2203	4300	6503	SO:0001583	missense	51454				apoptosis|lipid transport|phagocytosis, engulfment	cytoplasm|intracellular membrane-bounded organelle	signal transducer activity	g.chr2:189448999G>A	AF191771	CCDS2295.1, CCDS58742.1, CCDS58743.1	2q32.3-q33	2008-02-05			ENSG00000144366	ENSG00000144366			18649	protein-coding gene	gene with protein product		608165				11729193	Standard	NM_001252668		Approved	CED6, CED-6, GULP	uc010fru.3	Q9UBP9	OTTHUMG00000132647	ENST00000409580.1:c.617G>A	2.37:g.189448999G>A	ENSP00000386289:p.Ser206Asn					GULP1_ENST00000409805.1_Missense_Mutation_p.S103N|GULP1_ENST00000409609.1_Missense_Mutation_p.S206N|GULP1_ENST00000409843.1_Missense_Mutation_p.S206N|GULP1_ENST00000409830.1_Missense_Mutation_p.S206N|GULP1_ENST00000359135.3_Missense_Mutation_p.S206N	p.S206N			Q9UBP9	GULP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0423)|Epithelial(96;0.158)		11	1331	+			206					B2RB51|B4DQ40|B8ZZ72|D3DPH1|E9PB86|Q53PC1|Q53RF3|Q9BVL3	Missense_Mutation	SNP	ENST00000409580.1	37	c.617G>A	CCDS2295.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.23|14.23	2.474735|2.474735	0.43942|0.43942	.|.	.|.	ENSG00000144366|ENSG00000144366	ENST00000409843;ENST00000409830;ENST00000409805;ENST00000359135;ENST00000409580;ENST00000409609|ENST00000451191;ENST00000433052	T;T;T;T;T|.	0.47177|.	0.85;0.87;0.87;0.87;0.87|.	5.62|5.62	1.79|1.79	0.24919|0.24919	.|.	0.380726|.	0.32578|.	N|.	0.005918|.	T|T	0.42539|0.42539	0.1207|0.1207	L|L	0.58101|0.58101	1.795|1.795	0.28222|0.28222	N|N	0.926489|0.926489	B;B;B;B|.	0.14805|.	0.01;0.011;0.001;0.001|.	B;B;B;B|.	0.14578|.	0.011;0.009;0.001;0.001|.	T|T	0.33828|0.33828	-0.9853|-0.9853	10|5	0.16896|.	T|.	0.51|.	-0.772|-0.772	7.0678|7.0678	0.25161|0.25161	0.2084:0.1246:0.667:0.0|0.2084:0.1246:0.667:0.0	.|.	103;30;206;206|.	E9PB86;Q59EC1;Q9UBP9;B8ZZ72|.	.;.;GULP1_HUMAN;.|.	N|I	206;206;103;206;206;206|31;91	ENSP00000387144:S206N;ENSP00000386732:S206N;ENSP00000352047:S206N;ENSP00000386289:S206N;ENSP00000386867:S206N|.	ENSP00000352047:S206N|.	S|V	+|+	2|1	0|0	GULP1|GULP1	189157244|189157244	1.000000|1.000000	0.71417|0.71417	0.696000|0.696000	0.30242|0.30242	0.889000|0.889000	0.51656|0.51656	1.355000|1.355000	0.34068|0.34068	0.054000|0.054000	0.16065|0.16065	-0.182000|-0.182000	0.12963|0.12963	AGT|GTA		0.363	GULP1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335722.1	NM_016315		41	74	0	0	0	1	0	41	74					A	189448999	G	A	189448999	3	1	435	1	0	0	0	0	1	0	0	0	6901	1029	36	3	647	3	GULP1	2	189448999	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	3645890	189448999	53750374	1418	22343											
COL5A2	1290	broad.mit.edu	37	chr2	189906341	189906341	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgcttctcctacactgcctcGtacacctggaggtccaattg	7	12	8	14	1	1	0	0	0	1	0	4	1	2	1	4	2	4	2	4	2	3	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:189906341G>A	ENST00000374866.3	-	50	3878	c.3604C>T	c.(3604-3606)Cga>Tga	p.R1202*		NM_000393.3	NP_000384.2	P05997	CO5A2_HUMAN	collagen, type V, alpha 2	1202					axon guidance (GO:0007411)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|eye morphogenesis (GO:0048592)|negative regulation of endodermal cell differentiation (GO:1903225)|skeletal system development (GO:0001501)|skin development (GO:0043588)	collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)			NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			ACACTGCCTCGTACACCTGGA	0.483																																						ENST00000374866.3																			0				NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95						c.(3604-3606)Cga>Tga		collagen, type V, alpha 2							145	142	143					2																	189906341		2203	4300	6503	SO:0001587	stop_gained	1290				axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent	g.chr2:189906341G>A	Y14690	CCDS33350.1	2q14-q32	2014-09-17			ENSG00000204262	ENSG00000204262		"Collagens"	2210	protein-coding gene	gene with protein product	"AB collagen"	120190				1572660	Standard	NM_000393		Approved		uc002uqk.3	P05997	OTTHUMG00000149842	ENST00000374866.3:c.3604C>T	2.37:g.189906341G>A	ENSP00000364000:p.Arg1202*						p.R1202*	NM_000393.3	NP_000384.2	P05997	CO5A2_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)		50	3878	-			1202					P78440|Q13908|Q53WR4|Q59GR4|Q6LDJ5|Q7KZ55|Q86XF6|Q96QB0|Q96QB3	Nonsense_Mutation	SNP	ENST00000374866.3	37	c.3604C>T	CCDS33350.1	.	.	.	.	.	.	.	.	.	.	G	43	10.399719	0.99398	.	.	ENSG00000204262	ENST00000374866;ENST00000452536	.	.	.	5.56	4.64	0.57946	.	0.000000	0.47093	D	0.000255	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.4911	0.75605	0.0:0.0:0.8092:0.1908	.	.	.	.	X	1202;842	.	ENSP00000364000:R1202X	R	-	1	2	COL5A2	189614586	0.995000	0.38212	0.993000	0.49108	0.907000	0.53573	2.135000	0.42112	2.781000	0.95711	0.650000	0.86243	CGA		0.483	COL5A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313523.1	NM_000393		15	71	0	0	0	1	0	15	71					A	189906341	G	A	189906341	4	1	435	1	0	0	0	0	0	1	0	0	3697	1153	40	1	915	1	COL5A2	2	189906341	Nonsense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	457342	189906341	53293032	1419	22344											
COL5A2	1290	broad.mit.edu	37	chr2	189940164	189940164	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatgtgcacctcgttgtccCtaattaagagaaaaagagac	14	9	8	10	1	0	2	0	0	0	2	2	4	1	2	3	0	1	2	3	0	4	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:189940164C>A	ENST00000374866.3	-	17	1334		c.e17-1			NM_000393.3	NP_000384.2	P05997	CO5A2_HUMAN	collagen, type V, alpha 2						axon guidance (GO:0007411)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|eye morphogenesis (GO:0048592)|negative regulation of endodermal cell differentiation (GO:1903225)|skeletal system development (GO:0001501)|skin development (GO:0043588)	collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)			NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			CTCGTTGTCCCTAATTAAGAG	0.299																																						ENST00000374866.3																			0				NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95						c.e17-1		collagen, type V, alpha 2							73	78	76					2																	189940164		2203	4300	6503	SO:0001630	splice_region_variant	1290				axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent	g.chr2:189940164C>A	Y14690	CCDS33350.1	2q14-q32	2014-09-17			ENSG00000204262	ENSG00000204262		"Collagens"	2210	protein-coding gene	gene with protein product	"AB collagen"	120190				1572660	Standard	NM_000393		Approved		uc002uqk.3	P05997	OTTHUMG00000149842	ENST00000374866.3:c.1060-1G>T	2.37:g.189940164C>A								NM_000393.3	NP_000384.2	P05997	CO5A2_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)		17	1334	-								P78440|Q13908|Q53WR4|Q59GR4|Q6LDJ5|Q7KZ55|Q86XF6|Q96QB0|Q96QB3	Splice_Site	SNP	ENST00000374866.3	37		CCDS33350.1	.	.	.	.	.	.	.	.	.	.	C	23.1	4.372583	0.82573	.	.	ENSG00000204262	ENST00000374866	.	.	.	5.17	5.17	0.71159	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.013	0.89230	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	COL5A2	189648409	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	6.320000	0.72876	2.573000	0.86826	0.585000	0.79938	.		0.299	COL5A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313523.1	NM_000393	Intron	15	55	1	0	3.41278e-10	1	3.64137e-10	15	55					A	189940164	C	A	189940164	5	1	435	1	0	0	0	0	0	0	1	0	3697	695	24	5	3592	5	COL5A2	2	189940164	Splice_Site	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	33823	189940164	53259209	1420	22345											
SLC40A1	30061	broad.mit.edu	37	chr2	190428718	190428718	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actcagtccctgagtgtaggCgtaccctgtggtgatgcagt	7	11	13	10	1	1	2	1	2	0	0	2	2	2	2	2	2	2	3	2	2	2	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:190428718C>T	ENST00000261024.2	-	7	1420	c.994G>A	c.(994-996)Gcc>Acc	p.A332T		NM_014585.5	NP_055400.1	Q9NP59	S40A1_HUMAN	solute carrier family 40 (iron-regulated transporter), member 1	332					anatomical structure morphogenesis (GO:0009653)|cellular iron ion homeostasis (GO:0006879)|endothelium development (GO:0003158)|iron ion transmembrane transport (GO:0034755)|lymphocyte homeostasis (GO:0002260)|multicellular organismal iron ion homeostasis (GO:0060586)|negative regulation of apoptotic process (GO:0043066)|regulation of transcription from RNA polymerase II promoter in response to iron (GO:0034395)|spleen trabecula formation (GO:0060345)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|multivesicular body (GO:0005771)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	iron ion transmembrane transporter activity (GO:0005381)			endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(117;0.000917)|Epithelial(96;0.014)|all cancers(119;0.0491)			TGAGTGTAGGCGTACCCTGTG	0.488																																						ENST00000261024.2																			0				endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14						c.(994-996)Gcc>Acc		solute carrier family 40 (iron-regulated transporter), member 1							99	80	87					2																	190428718		2203	4300	6503	SO:0001583	missense	30061				anatomical structure morphogenesis|cellular iron ion homeostasis	cytoplasm|integral to plasma membrane	iron ion transmembrane transporter activity|protein binding	g.chr2:190428718C>T	AF215636	CCDS2299.1	2q32	2014-09-17	2003-06-04	2003-06-05	ENSG00000138449	ENSG00000138449		"Solute carriers"	10909	protein-coding gene	gene with protein product	"ferroportin 1"	604653	"solute carrier family 11 (proton-coupled divalent metal ion transporters), member 3"	SLC11A3		10828623	Standard	NM_014585		Approved	MTP1, IREG1, FPN1, HFE4	uc002uqp.4	Q9NP59	OTTHUMG00000132662	ENST00000261024.2:c.994G>A	2.37:g.190428718C>T	ENSP00000261024:p.Ala332Thr						p.A332T	NM_014585.5	NP_055400.1	Q9NP59	S40A1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.000917)|Epithelial(96;0.014)|all cancers(119;0.0491)		7	1420	-			332					Q6FI62|Q7Z4F8|Q8IVB2|Q9NRL0	Missense_Mutation	SNP	ENST00000261024.2	37	c.994G>A	CCDS2299.1	.	.	.	.	.	.	.	.	.	.	C	35	5.567690	0.96540	.	.	ENSG00000138449	ENST00000261024;ENST00000544056	D	0.81579	-1.51	5.86	5.86	0.93980	Major facilitator superfamily domain, general substrate transporter (1);	0.000000	0.85682	D	0.000000	D	0.85695	0.5756	M	0.67700	2.07	0.80722	D	1	D	0.60160	0.987	P	0.51516	0.672	D	0.85529	0.1208	10	0.54805	T	0.06	-20.014	20.5632	0.99335	0.0:1.0:0.0:0.0	.	332	Q9NP59	S40A1_HUMAN	T	332;67	ENSP00000261024:A332T	ENSP00000261024:A332T	A	-	1	0	SLC40A1	190136963	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.762000	0.85270	2.937000	0.99478	0.650000	0.86243	GCC		0.488	SLC40A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255916.2			5	9	0	0	0	1	0	5	9					T	190428718	C	T	190428718	3	4	435	1	0	0	0	0	1	0	0	0	14628	768	27	1	729	1	SLC40A1	2	190428718	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	488554	190428718	52770655	1421	22346											
SLC40A1	30061	broad.mit.edu	37	chr2	190428735	190428735	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aggcgtaccctgtggtgatgCagtcaaagcccaggacagtc	10	7	13	11	1	1	1	1	1	0	0	2	2	1	2	2	3	3	2	2	3	2	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:190428735C>T	ENST00000261024.2	-	7	1403	c.977G>A	c.(976-978)tGc>tAc	p.C326Y		NM_014585.5	NP_055400.1	Q9NP59	S40A1_HUMAN	solute carrier family 40 (iron-regulated transporter), member 1	326			C -> Y (in iron overload). {ECO:0000269|PubMed:15466004}.		anatomical structure morphogenesis (GO:0009653)|cellular iron ion homeostasis (GO:0006879)|endothelium development (GO:0003158)|iron ion transmembrane transport (GO:0034755)|lymphocyte homeostasis (GO:0002260)|multicellular organismal iron ion homeostasis (GO:0060586)|negative regulation of apoptotic process (GO:0043066)|regulation of transcription from RNA polymerase II promoter in response to iron (GO:0034395)|spleen trabecula formation (GO:0060345)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|multivesicular body (GO:0005771)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	iron ion transmembrane transporter activity (GO:0005381)			endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(117;0.000917)|Epithelial(96;0.014)|all cancers(119;0.0491)			TGTGGTGATGCAGTCAAAGCC	0.498																																						ENST00000261024.2																			0				endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14	GRCh37	CM042784|CM052917	SLC40A1	M		c.(976-978)tGc>tAc		solute carrier family 40 (iron-regulated transporter), member 1							108	87	94					2																	190428735		2203	4300	6503	SO:0001583	missense	30061				anatomical structure morphogenesis|cellular iron ion homeostasis	cytoplasm|integral to plasma membrane	iron ion transmembrane transporter activity|protein binding	g.chr2:190428735C>T	AF215636	CCDS2299.1	2q32	2014-09-17	2003-06-04	2003-06-05	ENSG00000138449	ENSG00000138449		"Solute carriers"	10909	protein-coding gene	gene with protein product	"ferroportin 1"	604653	"solute carrier family 11 (proton-coupled divalent metal ion transporters), member 3"	SLC11A3		10828623	Standard	NM_014585		Approved	MTP1, IREG1, FPN1, HFE4	uc002uqp.4	Q9NP59	OTTHUMG00000132662	ENST00000261024.2:c.977G>A	2.37:g.190428735C>T	ENSP00000261024:p.Cys326Tyr						p.C326Y	NM_014585.5	NP_055400.1	Q9NP59	S40A1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.000917)|Epithelial(96;0.014)|all cancers(119;0.0491)		7	1403	-			326		C -> Y (in iron overload).			Q6FI62|Q7Z4F8|Q8IVB2|Q9NRL0	Missense_Mutation	SNP	ENST00000261024.2	37	c.977G>A	CCDS2299.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.150084	0.78001	.	.	ENSG00000138449	ENST00000261024;ENST00000544056	D	0.94092	-3.35	6.16	6.16	0.99307	Major facilitator superfamily domain, general substrate transporter (1);	0.000000	0.85682	D	0.000000	D	0.93595	0.7955	L	0.52126	1.63	0.80722	D	1	P	0.41498	0.752	P	0.47346	0.544	D	0.91009	0.4848	10	0.27785	T	0.31	-23.4963	20.8598	0.99761	0.0:1.0:0.0:0.0	.	326	Q9NP59	S40A1_HUMAN	Y	326;61	ENSP00000261024:C326Y	ENSP00000261024:C326Y	C	-	2	0	SLC40A1	190136980	1.000000	0.71417	0.998000	0.56505	0.991000	0.79684	7.804000	0.85993	2.937000	0.99478	0.650000	0.86243	TGC		0.498	SLC40A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255916.2			3	13	0	0	0	1	0	3	13					T	190428735	C	T	190428735	3	4	435	1	0	0	0	0	1	0	0	0	14628	710	25	3	746	3	SLC40A1	2	190428735	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	17	190428735	52770638	1422	22347											
SLC40A1	30061	broad.mit.edu	37	chr2	190445173	190445173	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ctctctggcggttgtgatctCccgccctggtcatgacacta	5	12	10	14	2	3	2	1	2	2	0	5	2	3	2	2	3	0	1	2	3	1	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:190445173C>T	ENST00000261024.2	-	1	440	c.14G>A	c.(13-15)gGa>gAa	p.G5E	SLC40A1_ENST00000418714.1_5'UTR	NM_014585.5	NP_055400.1	Q9NP59	S40A1_HUMAN	solute carrier family 40 (iron-regulated transporter), member 1	5					anatomical structure morphogenesis (GO:0009653)|cellular iron ion homeostasis (GO:0006879)|endothelium development (GO:0003158)|iron ion transmembrane transport (GO:0034755)|lymphocyte homeostasis (GO:0002260)|multicellular organismal iron ion homeostasis (GO:0060586)|negative regulation of apoptotic process (GO:0043066)|regulation of transcription from RNA polymerase II promoter in response to iron (GO:0034395)|spleen trabecula formation (GO:0060345)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|multivesicular body (GO:0005771)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	iron ion transmembrane transporter activity (GO:0005381)			endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(117;0.000917)|Epithelial(96;0.014)|all cancers(119;0.0491)			GTTGTGATCTCCCGCCCTGGT	0.572																																						ENST00000261024.2																			0				endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14						c.(13-15)gGa>gAa		solute carrier family 40 (iron-regulated transporter), member 1							111	95	101					2																	190445173		2203	4300	6503	SO:0001583	missense	30061				anatomical structure morphogenesis|cellular iron ion homeostasis	cytoplasm|integral to plasma membrane	iron ion transmembrane transporter activity|protein binding	g.chr2:190445173C>T	AF215636	CCDS2299.1	2q32	2014-09-17	2003-06-04	2003-06-05	ENSG00000138449	ENSG00000138449		"Solute carriers"	10909	protein-coding gene	gene with protein product	"ferroportin 1"	604653	"solute carrier family 11 (proton-coupled divalent metal ion transporters), member 3"	SLC11A3		10828623	Standard	NM_014585		Approved	MTP1, IREG1, FPN1, HFE4	uc002uqp.4	Q9NP59	OTTHUMG00000132662	ENST00000261024.2:c.14G>A	2.37:g.190445173C>T	ENSP00000261024:p.Gly5Glu					SLC40A1_ENST00000418714.1_5'UTR	p.G5E	NM_014585.5	NP_055400.1	Q9NP59	S40A1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.000917)|Epithelial(96;0.014)|all cancers(119;0.0491)		1	440	-			5					Q6FI62|Q7Z4F8|Q8IVB2|Q9NRL0	Missense_Mutation	SNP	ENST00000261024.2	37	c.14G>A	CCDS2299.1	.	.	.	.	.	.	.	.	.	.	C	18.45	3.626432	0.66901	.	.	ENSG00000138449	ENST00000261024;ENST00000481497;ENST00000427241;ENST00000455320;ENST00000427419;ENST00000440626	D;D	0.97811	-2.95;-4.55	4.95	1.97	0.26223	Major facilitator superfamily domain, general substrate transporter (1);	0.828672	0.11188	N	0.590235	D	0.94820	0.8327	L	0.56769	1.78	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	D	0.86133	0.1576	10	0.17832	T	0.49	-0.1156	5.5862	0.17275	0.0:0.6524:0.0:0.3476	.	5;5	A8K7Y1;Q9NP59	.;S40A1_HUMAN	E	5;79;5;5;5;5	ENSP00000261024:G5E;ENSP00000390005:G5E	ENSP00000261024:G5E	G	-	2	0	SLC40A1	190153418	0.000000	0.05858	0.001000	0.08648	0.910000	0.53928	0.523000	0.22925	0.689000	0.31550	0.555000	0.69702	GGA		0.572	SLC40A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255916.2			15	31	0	0	0	1	0	15	31					T	190445173	C	T	190445173	3	4	435	1	0	0	0	0	1	0	0	0	14628	855	30	3	1733	3	SLC40A1	2	190445173	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	16438	190445173	52754200	1423	22348											
ASNSD1	54529	broad.mit.edu	37	chr2	190531702	190531702	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgatgtacacatgaaggaaGtaattcagcagttcattgat	14	12	9	6	0	2	3	2	3	0	0	2	4	2	4	0	1	2	4	0	1	4	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:190531702G>A	ENST00000260952.4	+	4	1257	c.844G>A	c.(844-846)Gta>Ata	p.V282I	ASNSD1_ENST00000607062.1_Intron	NM_019048.2	NP_061921	Q9NWL6	ASND1_HUMAN	asparagine synthetase domain containing 1	282					asparagine biosynthetic process (GO:0006529)|glutamine metabolic process (GO:0006541)		asparagine synthase (glutamine-hydrolyzing) activity (GO:0004066)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(3)	25			OV - Ovarian serous cystadenocarcinoma(117;0.00318)|Epithelial(96;0.0449)|all cancers(119;0.118)			CATGAAGGAAGTAATTCAGCA	0.403																																						ENST00000260952.4																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(3)	25						c.(844-846)Gta>Ata		asparagine synthetase domain containing 1							156	154	154					2																	190531702		2203	4300	6503	SO:0001583	missense	54529				asparagine biosynthetic process|glutamine metabolic process		asparagine synthase (glutamine-hydrolyzing) activity	g.chr2:190531702G>A	AY116969	CCDS2300.1	2q32.2	2012-09-20			ENSG00000138381	ENSG00000138381			24910	protein-coding gene	gene with protein product							Standard	NM_019048		Approved	NS3TP1, FLJ20752, NBLA00058	uc002uqt.3	Q9NWL6	OTTHUMG00000132665	ENST00000260952.4:c.844G>A	2.37:g.190531702G>A	ENSP00000260952:p.Val282Ile					ASNSD1_ENST00000607062.1_Intron	p.V282I	NM_019048.2	NP_061921.1	Q9NWL6	ASND1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00318)|Epithelial(96;0.0449)|all cancers(119;0.118)		4	1257	+			282					D3DPH6|Q3LIC3|Q4ZG45	Missense_Mutation	SNP	ENST00000260952.4	37	c.844G>A	CCDS2300.1	.	.	.	.	.	.	.	.	.	.	G	1.292	-0.607348	0.03717	.	.	ENSG00000138381	ENST00000260952;ENST00000420250	T;T	0.31510	1.49;1.5	5.65	-1.79	0.07932	Rossmann-like alpha/beta/alpha sandwich fold (1);	0.783948	0.12092	N	0.500307	T	0.13970	0.0338	N	0.21583	0.68	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.28038	-1.0056	10	0.17369	T	0.5	-9.9948	2.4999	0.04630	0.3888:0.1759:0.3389:0.0965	.	282	Q9NWL6	ASND1_HUMAN	I	282	ENSP00000260952:V282I;ENSP00000406790:V282I	ENSP00000260952:V282I	V	+	1	0	ASNSD1	190239947	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-1.277000	0.02812	-0.227000	0.09884	-0.137000	0.14449	GTA		0.403	ASNSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255919.3	NM_019048		49	79	0	0	0	1	0	49	79					A	190531702	G	A	190531702	3	1	435	1	0	0	0	0	1	0	0	0	1049	1029	36	3	846	3	ASNSD1	2	190531702	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	86529	190531702	52667671	1424	22349											
ASNSD1	54529	broad.mit.edu	37	chr2	190532519	190532519	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	actggaattggtgcagatgaGcaacttgcaggttattctcg	10	12	12	7	1	1	2	0	1	1	1	2	3	1	3	0	3	4	4	0	3	3	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:190532519G>A	ENST00000260952.4	+	5	1907	c.1494G>A	c.(1492-1494)gaG>gaA	p.E498E	ASNSD1_ENST00000607062.1_Silent_p.E17E	NM_019048.2	NP_061921	Q9NWL6	ASND1_HUMAN	asparagine synthetase domain containing 1	498	Asparagine synthetase.				asparagine biosynthetic process (GO:0006529)|glutamine metabolic process (GO:0006541)		asparagine synthase (glutamine-hydrolyzing) activity (GO:0004066)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(3)	25			OV - Ovarian serous cystadenocarcinoma(117;0.00318)|Epithelial(96;0.0449)|all cancers(119;0.118)			GTGCAGATGAGCAACTTGCAG	0.388																																						ENST00000260952.4																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(3)	25						c.(1492-1494)gaG>gaA		asparagine synthetase domain containing 1							105	107	106					2																	190532519		2203	4300	6503	SO:0001819	synonymous_variant	54529				asparagine biosynthetic process|glutamine metabolic process		asparagine synthase (glutamine-hydrolyzing) activity	g.chr2:190532519G>A	AY116969	CCDS2300.1	2q32.2	2012-09-20			ENSG00000138381	ENSG00000138381			24910	protein-coding gene	gene with protein product							Standard	NM_019048		Approved	NS3TP1, FLJ20752, NBLA00058	uc002uqt.3	Q9NWL6	OTTHUMG00000132665	ENST00000260952.4:c.1494G>A	2.37:g.190532519G>A						ASNSD1_ENST00000607062.1_Silent_p.E17E	p.E498E	NM_019048.2	NP_061921.1	Q9NWL6	ASND1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00318)|Epithelial(96;0.0449)|all cancers(119;0.118)		5	1907	+			498			Asparagine synthetase.		D3DPH6|Q3LIC3|Q4ZG45	Silent	SNP	ENST00000260952.4	37	c.1494G>A	CCDS2300.1																																																																																				0.388	ASNSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255919.3	NM_019048		20	34	0	0	0	1	0	20	34					A	190532519	G	A	190532519	2	1	435	1	0	0	0	0	0	0	0	1	1049	962	34	3		3	ASNSD1	2	190532519	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	817	190532519	52666854	1425	22350											
ANKAR	150709	broad.mit.edu	37	chr2	190561072	190561072	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	taacttcaaggtcaaccagaGgcgctttgttacgttcagcc	10	11	9	11	2	3	1	3	0	0	1	3	1	3	1	2	2	4	3	2	2	4	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:190561072G>T	ENST00000520309.1	+	7	1773	c.1685G>T	c.(1684-1686)aGg>aTg	p.R562M	ANKAR_ENST00000313581.4_Missense_Mutation_p.R562M|ANKAR_ENST00000438402.2_Missense_Mutation_p.R562M|ANKAR_ENST00000431575.2_Missense_Mutation_p.R491M|ANKAR_ENST00000281412.6_Missense_Mutation_p.R326M	NM_144708.3	NP_653309.3	Q7Z5J8	ANKAR_HUMAN	ankyrin and armadillo repeat containing	562						integral component of membrane (GO:0016021)				breast(3)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(16)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(2)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0256)|all cancers(119;0.0744)			GTCAACCAGAGGCGCTTTGTT	0.368																																						ENST00000520309.1																			0				breast(3)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(16)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(2)	46						c.(1684-1686)aGg>aTg		ankyrin and armadillo repeat containing							95	91	92					2																	190561072		2203	4300	6503	SO:0001583	missense	150709					integral to membrane	binding	g.chr2:190561072G>T	AJ549812	CCDS33351.1, CCDS33351.2	2q32.2	2013-02-14			ENSG00000151687	ENSG00000151687		"Ankyrin repeat domain containing", "Armadillo repeat containing"	26350	protein-coding gene	gene with protein product		609803				15110750	Standard	NM_144708		Approved	FLJ25415	uc002uqw.2	Q7Z5J8	OTTHUMG00000154398	ENST00000520309.1:c.1685G>T	2.37:g.190561072G>T	ENSP00000427882:p.Arg562Met					ANKAR_ENST00000438402.2_Missense_Mutation_p.R562M|ANKAR_ENST00000281412.6_Missense_Mutation_p.R326M|ANKAR_ENST00000431575.2_Missense_Mutation_p.R491M|ANKAR_ENST00000313581.4_Missense_Mutation_p.R562M	p.R562M	NM_144708.3	NP_653309.3	Q7Z5J8	ANKAR_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0256)|all cancers(119;0.0744)		7	1773	+			562					Q3ZCS6|Q4G0M2|Q6ZU02	Missense_Mutation	SNP	ENST00000520309.1	37	c.1685G>T	CCDS33351.2	.	.	.	.	.	.	.	.	.	.	G	14.91	2.676260	0.47886	.	.	ENSG00000151687	ENST00000520309;ENST00000313581;ENST00000438402;ENST00000431575;ENST00000281412	T;T;T;T;T	0.55413	0.52;0.52;0.52;0.52;0.52	5.26	5.26	0.73747	.	0.973666	0.08383	N	0.954277	T	0.76054	0.3934	M	0.85710	2.77	0.36127	D	0.845904	.	.	.	.	.	.	T	0.76547	-0.2919	8	0.72032	D	0.01	-23.3728	17.6415	0.88138	0.0:0.0:1.0:0.0	.	.	.	.	M	562;562;562;491;326	ENSP00000427882:R562M;ENSP00000313513:R562M;ENSP00000397243:R562M;ENSP00000393043:R491M;ENSP00000281412:R326M	ENSP00000281412:R326M	R	+	2	0	ANKAR	190269317	1.000000	0.71417	1.000000	0.80357	0.121000	0.20230	4.827000	0.62723	2.456000	0.83038	0.557000	0.71058	AGG		0.368	ANKAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335045.3	NM_144708		31	59	1	0	2.09667e-21	1	2.32829e-21	31	59					T	190561072	G	T	190561072	3	4	435	1	0	0	0	0	1	0	0	0	623	1000	35	5	1707	5	ANKAR	2	190561072	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	28553	190561072	52638301	1426	22351											
ANKAR	150709	broad.mit.edu	37	chr2	190569831	190569831	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgttccaaagctgattacacGctttctgaaaaaagaggctg	13	11	9	8	1	1	3	0	2	1	1	2	3	2	3	1	1	2	4	1	1	5	3	rs555194963		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:190569831G>A	ENST00000520309.1	+	8	1879	c.1791G>A	c.(1789-1791)acG>acA	p.T597T	ANKAR_ENST00000313581.4_Silent_p.T597T|ANKAR_ENST00000438402.2_Silent_p.T597T|ANKAR_ENST00000431575.2_Silent_p.T526T|ANKAR_ENST00000281412.6_Silent_p.T361T	NM_144708.3	NP_653309.3	Q7Z5J8	ANKAR_HUMAN	ankyrin and armadillo repeat containing	597						integral component of membrane (GO:0016021)				breast(3)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(16)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(2)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0256)|all cancers(119;0.0744)			CTGATTACACGCTTTCTGAAA	0.438													G|||	1	0.000199681	0	0	5008	,	,		14771	0		0.001	False		,,,				2504	0					ENST00000520309.1																			0				breast(3)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(16)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(2)	46						c.(1789-1791)acG>acA		ankyrin and armadillo repeat containing							164	146	152					2																	190569831		2203	4300	6503	SO:0001819	synonymous_variant	150709					integral to membrane	binding	g.chr2:190569831G>A	AJ549812	CCDS33351.1, CCDS33351.2	2q32.2	2013-02-14			ENSG00000151687	ENSG00000151687		"Ankyrin repeat domain containing", "Armadillo repeat containing"	26350	protein-coding gene	gene with protein product		609803				15110750	Standard	NM_144708		Approved	FLJ25415	uc002uqw.2	Q7Z5J8	OTTHUMG00000154398	ENST00000520309.1:c.1791G>A	2.37:g.190569831G>A						ANKAR_ENST00000438402.2_Silent_p.T597T|ANKAR_ENST00000281412.6_Silent_p.T361T|ANKAR_ENST00000431575.2_Silent_p.T526T|ANKAR_ENST00000313581.4_Silent_p.T597T	p.T597T	NM_144708.3	NP_653309.3	Q7Z5J8	ANKAR_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0256)|all cancers(119;0.0744)		8	1879	+			597					Q3ZCS6|Q4G0M2|Q6ZU02	Silent	SNP	ENST00000520309.1	37	c.1791G>A	CCDS33351.2																																																																																				0.438	ANKAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335045.3	NM_144708		37	72	0	0	0	1	0	37	72					A	190569831	G	A	190569831	2	1	435	1	0	0	0	0	0	0	0	1	623	1074	38	1		1	ANKAR	2	190569831	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	8759	190569831	52629542	1427	22352											
ANKAR	150709	broad.mit.edu	37	chr2	190603353	190603353	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	actttgtctgcaagaggtgtTactattttagttgatagtct	9	18	9	5	0	2	2	0	1	2	1	2	2	2	2	0	1	2	3	0	1	5	7			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:190603353T>C	ENST00000520309.1	+	19	3733	c.3645T>C	c.(3643-3645)gtT>gtC	p.V1215V	ANKAR_ENST00000438402.2_3'UTR|ANKAR_ENST00000431575.2_Silent_p.V1144V|ANKAR_ENST00000313581.4_Silent_p.V1215V|ANKAR_ENST00000281412.6_3'UTR	NM_144708.3	NP_653309.3	Q7Z5J8	ANKAR_HUMAN	ankyrin and armadillo repeat containing	1215						integral component of membrane (GO:0016021)				breast(3)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(16)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(2)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0256)|all cancers(119;0.0744)			CAAGAGGTGTTACTATTTTAG	0.323																																						ENST00000520309.1																			0				breast(3)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(16)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(2)	46						c.(3643-3645)gtT>gtC		ankyrin and armadillo repeat containing							158	156	157					2																	190603353		2202	4299	6501	SO:0001819	synonymous_variant	150709					integral to membrane	binding	g.chr2:190603353T>C	AJ549812	CCDS33351.1, CCDS33351.2	2q32.2	2013-02-14			ENSG00000151687	ENSG00000151687		"Ankyrin repeat domain containing", "Armadillo repeat containing"	26350	protein-coding gene	gene with protein product		609803				15110750	Standard	NM_144708		Approved	FLJ25415	uc002uqw.2	Q7Z5J8	OTTHUMG00000154398	ENST00000520309.1:c.3645T>C	2.37:g.190603353T>C						ANKAR_ENST00000438402.2_3'UTR|ANKAR_ENST00000431575.2_Silent_p.V1144V|ANKAR_ENST00000281412.6_3'UTR|ANKAR_ENST00000313581.4_Silent_p.V1215V	p.V1215V	NM_144708.3	NP_653309.3	Q7Z5J8	ANKAR_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0256)|all cancers(119;0.0744)		19	3733	+			1215					Q3ZCS6|Q4G0M2|Q6ZU02	Silent	SNP	ENST00000520309.1	37	c.3645T>C	CCDS33351.2																																																																																				0.323	ANKAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335045.3	NM_144708		6	59	0	0	0	1	0	6	59					C	190603353	T	C	190603353	2	2	435	1	0	0	0	0	0	0	0	1	623	1741	61	4		4	ANKAR	2	190603353	Silent	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	33522	190603353	52596020	1428	22353											
ANKAR	150709	broad.mit.edu	37	chr2	190606144	190606144	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	acattaggaacaatccaacgGctctgctatcatttgtactc	12	12	6	11	1	2	0	1	0	1	0	4	1	3	1	1	2	4	3	1	2	6	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:190606144G>A	ENST00000520309.1	+	20	3865	c.3777G>A	c.(3775-3777)cgG>cgA	p.R1259R	ANKAR_ENST00000438402.2_3'UTR|ANKAR_ENST00000431575.2_Silent_p.R1188R|ANKAR_ENST00000313581.4_Silent_p.R1259R|ANKAR_ENST00000281412.6_3'UTR	NM_144708.3	NP_653309.3	Q7Z5J8	ANKAR_HUMAN	ankyrin and armadillo repeat containing	1259						integral component of membrane (GO:0016021)				breast(3)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(16)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(2)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0256)|all cancers(119;0.0744)			CAATCCAACGGCTCTGCTATC	0.343																																						ENST00000520309.1																			0				breast(3)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(16)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(2)	46						c.(3775-3777)cgG>cgA		ankyrin and armadillo repeat containing							64	64	64					2																	190606144		2202	4300	6502	SO:0001819	synonymous_variant	150709					integral to membrane	binding	g.chr2:190606144G>A	AJ549812	CCDS33351.1, CCDS33351.2	2q32.2	2013-02-14			ENSG00000151687	ENSG00000151687		"Ankyrin repeat domain containing", "Armadillo repeat containing"	26350	protein-coding gene	gene with protein product		609803				15110750	Standard	NM_144708		Approved	FLJ25415	uc002uqw.2	Q7Z5J8	OTTHUMG00000154398	ENST00000520309.1:c.3777G>A	2.37:g.190606144G>A						ANKAR_ENST00000438402.2_3'UTR|ANKAR_ENST00000431575.2_Silent_p.R1188R|ANKAR_ENST00000281412.6_3'UTR|ANKAR_ENST00000313581.4_Silent_p.R1259R	p.R1259R	NM_144708.3	NP_653309.3	Q7Z5J8	ANKAR_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0256)|all cancers(119;0.0744)		20	3865	+			1259					Q3ZCS6|Q4G0M2|Q6ZU02	Silent	SNP	ENST00000520309.1	37	c.3777G>A	CCDS33351.2																																																																																				0.343	ANKAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335045.3	NM_144708		24	61	0	0	0	1	0	24	61					A	190606144	G	A	190606144	2	1	435	1	0	0	0	0	0	0	0	1	623	1190	42	3		3	ANKAR	2	190606144	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	2791	190606144	52593229	1429	22354											
ANKAR	150709	broad.mit.edu	37	chr2	190611229	190611229	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aaagaccaaggattcccataAtattttttctttttcatcta	13	17	3	8	0	3	1	1	0	2	1	4	2	4	2	2	1	0	0	2	1	5	9			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:190611229A>C	ENST00000520309.1	+	23	4269	c.4181A>C	c.(4180-4182)aAt>aCt	p.N1394T	ANKAR_ENST00000438402.2_3'UTR|ANKAR_ENST00000431575.2_Missense_Mutation_p.N1323T|ANKAR_ENST00000313581.4_Missense_Mutation_p.N1394T|ANKAR_ENST00000281412.6_3'UTR	NM_144708.3	NP_653309.3	Q7Z5J8	ANKAR_HUMAN	ankyrin and armadillo repeat containing	1394						integral component of membrane (GO:0016021)				breast(3)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(16)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(2)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0256)|all cancers(119;0.0744)			GATTCCCATAATATTTTTTCT	0.333																																						ENST00000520309.1																			0				breast(3)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(16)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(2)	46						c.(4180-4182)aAt>aCt		ankyrin and armadillo repeat containing							71	80	77					2																	190611229		2202	4298	6500	SO:0001583	missense	150709					integral to membrane	binding	g.chr2:190611229A>C	AJ549812	CCDS33351.1, CCDS33351.2	2q32.2	2013-02-14			ENSG00000151687	ENSG00000151687		"Ankyrin repeat domain containing", "Armadillo repeat containing"	26350	protein-coding gene	gene with protein product		609803				15110750	Standard	NM_144708		Approved	FLJ25415	uc002uqw.2	Q7Z5J8	OTTHUMG00000154398	ENST00000520309.1:c.4181A>C	2.37:g.190611229A>C	ENSP00000427882:p.Asn1394Thr					ANKAR_ENST00000438402.2_3'UTR|ANKAR_ENST00000431575.2_Missense_Mutation_p.N1323T|ANKAR_ENST00000281412.6_3'UTR|ANKAR_ENST00000313581.4_Missense_Mutation_p.N1394T	p.N1394T	NM_144708.3	NP_653309.3	Q7Z5J8	ANKAR_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0256)|all cancers(119;0.0744)		23	4269	+			1394					Q3ZCS6|Q4G0M2|Q6ZU02	Missense_Mutation	SNP	ENST00000520309.1	37	c.4181A>C	CCDS33351.2	.	.	.	.	.	.	.	.	.	.	A	9.800	1.180348	0.21787	.	.	ENSG00000151687	ENST00000520309;ENST00000313581;ENST00000431575	T;T;T	0.24151	1.87;1.87;1.87	4.33	0.4	0.16331	.	0.425527	0.21174	N	0.078925	T	0.16385	0.0394	L	0.27053	0.805	0.09310	N	1	.	.	.	.	.	.	T	0.13176	-1.0519	8	0.48119	T	0.1	-11.8719	3.853	0.08963	0.6622:0.0:0.1814:0.1563	.	.	.	.	T	1394;1394;1323	ENSP00000427882:N1394T;ENSP00000313513:N1394T;ENSP00000393043:N1323T	ENSP00000313513:N1394T	N	+	2	0	ANKAR	190319474	0.018000	0.18449	0.004000	0.12327	0.934000	0.57294	0.711000	0.25764	-0.010000	0.14271	-0.403000	0.06358	AAT		0.333	ANKAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335045.3	NM_144708		45	63	0	0	0	1	0	45	63					C	190611229	A	C	190611229	3	2	435	1	0	0	0	0	1	0	0	0	623	101	4	5	4267	5	ANKAR	2	190611229	Missense_Mutation	SNP	A	TCGA-XK-AAIW-01A-11D-A41K-08	5085	190611229	52588144	1430	22355											
PMS1	5378	broad.mit.edu	37	chr2	190728676	190728678	+	In_Frame_Del	DEL	AAG	AAG	-																															cttcagtcccaaattgaaaaAagaaggagtcaaaatattaa																										TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:190728676_190728678delAAG	ENST00000441310.2	+	10	2297_2299	c.2064_2066delAAG	c.(2062-2067)aaaaga>aaa	p.R690del	PMS1_ENST00000418224.3_In_Frame_Del_p.R514del|PMS1_ENST00000409823.3_In_Frame_Del_p.R651del|PMS1_ENST00000447232.2_Intron|PMS1_ENST00000432292.3_In_Frame_Del_p.R514del|PMS1_ENST00000421722.1_3'UTR	NM_000534.4	NP_000525.1	P54277	PMS1_HUMAN	PMS1 postmeiotic segregation increased 1 (S. cerevisiae)	690					ATP catabolic process (GO:0006200)|mismatch repair (GO:0006298)|response to drug (GO:0042493)	MutLalpha complex (GO:0032389)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|mismatched DNA binding (GO:0030983)|single-stranded DNA binding (GO:0003697)			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(16)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36			OV - Ovarian serous cystadenocarcinoma(117;0.0013)|Epithelial(96;0.0263)|all cancers(119;0.0751)			AAATTGAAAAAAGAAGGAGTCAA	0.33			"Mis, N"			"colorectal, endometrial, ovarian"		Direct reversal of damage;Mismatch excision repair (MMR)																														ENST00000441310.2			yes	Rec		Hereditary non-polyposis colorectal cancer	2	2q31-q33	5378	"Mis, N"	PMS1 postmeiotic segregation increased 1 (S. cerevisiae)			E		"colorectal, endometrial, ovarian"			0				breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(16)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(2062-2067)aaa>aa	Direct reversal of damage;Mismatch excision repair (MMR)	PMS1 postmeiotic segregation increased 1 (S. cerevisiae)			,,	8,4258		2,4,2127					,,	5.4	1			68	4,8248		2,0,4124	no	intron,coding,coding	PMS1	NM_001128144.1,NM_001128143.1,NM_000534.4	,,	4,4,6251	A1A1,A1R,RR		0.0485,0.1875,0.0959	,,	,,		12,12506				SO:0001651	inframe_deletion	0				mismatch repair|reciprocal meiotic recombination	MutLalpha complex	ATP binding|ATPase activity|mismatched DNA binding	g.chr2:190728676_190728678delAAG		CCDS2302.1, CCDS46473.1, CCDS46474.1, CCDS74615.1	2q31-q33	2014-09-17	2001-11-28		ENSG00000064933	ENSG00000064933			9121	protein-coding gene	gene with protein product		600258	"postmeiotic segregation increased (S. cerevisiae) 1"	PMSL1		8072530	Standard	NM_000534		Approved		uc002urh.4	P54277	OTTHUMG00000132664	ENST00000441310.2:c.2064_2066delAAG	2.37:g.190728679_190728681delAAG	ENSP00000406490:p.Arg690del					PMS1_ENST00000447232.2_Intron|PMS1_ENST00000418224.3_In_Frame_Del_p.KR512del|PMS1_ENST00000421722.1_3'UTR|PMS1_ENST00000432292.3_In_Frame_Del_p.KR512del|PMS1_ENST00000409823.3_In_Frame_Del_p.KR649del	p.KR688del	NM_000534.4	NP_000525.1	P54277	PMS1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0013)|Epithelial(96;0.0263)|all cancers(119;0.0751)		10	2297_2299	+			688					D3DPI1|Q4VAL4|Q5FBZ3|Q5FBZ6|Q5FBZ8	In_Frame_Del	DEL	ENST00000441310.2	37	c.2064_2066delAAG	CCDS2302.1																																																																																				0.33	PMS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255918.2			32	60						32	60	---	---	---	---	-	190728678	AAG	-	190728676	7	5	435	1	0	1	0	1	0	0	0	0	12142	11	1	0	2098	0	PMS1	2	190728676	In_Frame_Del	DEL	AAG	TCGA-XK-AAIW-01A-11D-A41K-08	117447	190728676	52470697	1431	22356											
MSTN	2660	broad.mit.edu	37	chr2	190922151	190922152	+	Frame_Shift_Ins	INS	-	-	T																															accagatgagtatgaggataINStttttgtaaaaatacaaatt																										TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:190922151_190922152insT	ENST00000260950.4	-	3	1092_1093	c.960_961insA	c.(958-963)aaatatfs	p.Y321fs	C2orf88_ENST00000478197.1_Intron	NM_005259.2	NP_005250.1	O14793	GDF8_HUMAN	myostatin	321					cellular response to dexamethasone stimulus (GO:0071549)|muscle organ development (GO:0007517)|negative regulation of muscle hypertrophy (GO:0014741)|negative regulation of skeletal muscle tissue growth (GO:0048632)|ovulation cycle process (GO:0022602)|positive regulation of transcription, DNA-templated (GO:0045893)|response to electrical stimulus (GO:0051602)|response to estrogen (GO:0043627)|response to ethanol (GO:0045471)|response to gravity (GO:0009629)|response to heat (GO:0009408)|response to muscle activity (GO:0014850)|response to testosterone (GO:0033574)|skeletal muscle atrophy (GO:0014732)|skeletal muscle tissue regeneration (GO:0043403)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	growth factor activity (GO:0008083)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|receptor binding (GO:0005102)			endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|skin(1)	12			OV - Ovarian serous cystadenocarcinoma(117;0.000742)|Epithelial(96;0.0121)|all cancers(119;0.0395)			GTATGAGGATATTTTTGTAAAA	0.391																																						ENST00000260950.4																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|skin(1)	12						c.(958-963)aaatccfs		myostatin																																				SO:0001589	frameshift_variant	2660				muscle organ development|positive regulation of transcription, DNA-dependent	extracellular space	cytokine activity|growth factor activity	g.chr2:190922151_190922152insT	AF019627	CCDS2303.1	2q32.1	2014-09-17	2007-06-21	2007-06-21	ENSG00000138379	ENSG00000138379			4223	protein-coding gene	gene with protein product		601788	"growth differentiation factor 8"	GDF8		9288100, 10610713, 17003236	Standard	NM_005259		Approved		uc002urp.3	O14793	OTTHUMG00000132663	ENST00000260950.4:c.961dupA	2.37:g.190922156_190922156dupT	ENSP00000260950:p.Tyr321fs					C2orf88_ENST00000478197.1_Intron	p.S321fs	NM_005259.2	NP_005250.1	O14793	GDF8_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.000742)|Epithelial(96;0.0121)|all cancers(119;0.0395)		3	1092_1093	-			321					A1C2J7|A1C2K0|Q6B0H2	Frame_Shift_Ins	INS	ENST00000260950.4	37	c.960_961insA	CCDS2303.1																																																																																				0.391	MSTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255917.2	NM_005259		19	43						19	43	---	---	---	---	T	190922152	-	T	190922151	7	5	435	1	0	1	1	0	0	0	0	0	9893	449	16	0	170	0	MSTN	2	190922151	Frame_Shift_Ins	INS	-	TCGA-XK-AAIW-01A-11D-A41K-08	193475	190922151	52277222	1432	22357											
HIBCH	26275	broad.mit.edu	37	chr2	191161561	191161561	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttagctgtggataaatctgcCgaatcatattaagagtcagt	13	13	9	6	1	3	1	2	0	1	1	3	3	3	2	1	1	2	1	1	1	6	4	rs553461468		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:191161561C>T	ENST00000359678.5	-	3	491	c.197G>A	c.(196-198)cGg>cAg	p.R66Q	HIBCH_ENST00000392332.3_Missense_Mutation_p.R66Q	NM_014362.3|NM_198047.2	NP_055177.2|NP_932164.1	Q6NVY1	HIBCH_HUMAN	3-hydroxyisobutyryl-CoA hydrolase	66					branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|small molecule metabolic process (GO:0044281)|valine catabolic process (GO:0006574)	extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)	3-hydroxyisobutyryl-CoA hydrolase activity (GO:0003860)			NS(1)|breast(2)|endometrium(1)|large_intestine(1)|lung(5)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	13			OV - Ovarian serous cystadenocarcinoma(117;0.000586)|Epithelial(96;0.0286)|all cancers(119;0.0814)			ATAAATCTGCCGAATCATATT	0.358													C|||	1	0.000199681	8e-04	0	5008	,	,		18883	0		0	False		,,,				2504	0					ENST00000392332.3																			0				NS(1)|breast(2)|endometrium(1)|large_intestine(1)|lung(5)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	13						c.(196-198)cGg>cAg		3-hydroxyisobutyryl-CoA hydrolase							121	118	119					2																	191161561		2203	4300	6503	SO:0001583	missense	26275				branched chain family amino acid catabolic process	mitochondrial matrix	3-hydroxyisobutyryl-CoA hydrolase activity|protein binding	g.chr2:191161561C>T	U66669	CCDS2304.1, CCDS46475.1	2q32.3	2010-04-29	2010-04-29		ENSG00000198130	ENSG00000198130	3.1.2.4		4908	protein-coding gene	gene with protein product		610690	"3-hydroxyisobutyryl-Coenzyme A hydrolase"			8824301	Standard	NM_014362		Approved		uc002uru.3	Q6NVY1	OTTHUMG00000132673	ENST00000359678.5:c.197G>A	2.37:g.191161561C>T	ENSP00000352706:p.Arg66Gln					HIBCH_ENST00000359678.5_Missense_Mutation_p.R66Q	p.R66Q			Q6NVY1	HIBCH_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.000586)|Epithelial(96;0.0286)|all cancers(119;0.0814)		3	336	-			66					D3DPI4|Q53GA8|Q53GF2|Q53RF7|Q53TC6|Q92931|Q9BS94	Missense_Mutation	SNP	ENST00000359678.5	37	c.197G>A	CCDS2304.1	.	.	.	.	.	.	.	.	.	.	C	14.03	2.414439	0.42817	.	.	ENSG00000198130	ENST00000392332;ENST00000359678;ENST00000409934	T;T;T	0.72282	-0.29;-0.64;-0.29	5.33	2.6	0.31112	Crotonase, core (1);	0.228771	0.43579	N	0.000544	T	0.56187	0.1968	L	0.43598	1.365	0.80722	D	1	B;B	0.32338	0.3;0.365	B;B	0.20577	0.03;0.019	T	0.49670	-0.8915	10	0.42905	T	0.14	-5.126	9.1832	0.37154	0.0:0.7589:0.0:0.2411	.	66;66	Q6NVY1-2;Q6NVY1	.;HIBCH_HUMAN	Q	66;66;120	ENSP00000376144:R66Q;ENSP00000352706:R66Q;ENSP00000387247:R120Q	ENSP00000352706:R66Q	R	-	2	0	HIBCH	190869806	0.902000	0.30710	0.709000	0.30452	0.807000	0.45602	0.140000	0.16056	0.265000	0.21872	-0.126000	0.14955	CGG		0.358	HIBCH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255933.1			7	56	0	0	0	1	0	7	56					T	191161561	C	T	191161561	3	4	435	1	0	0	0	0	1	0	0	0	7100	652	23	2	1011	2	HIBCH	2	191161561	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	239410	191161561	52037812	1433	22358											
MFSD6	54842	broad.mit.edu	37	chr2	191302025	191302025	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cagagtcctctgaggagacaCcaaccaccacaagccactcg	13	4	8	16	1	1	3	0	1	1	2	3	4	2	3	5	1	2	0	5	1	2	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:191302025C>T	ENST00000392328.1	+	3	1594	c.1270C>T	c.(1270-1272)Cca>Tca	p.P424S	MFSD6_ENST00000281416.7_Missense_Mutation_p.P424S	NM_017694.3	NP_060164.3	Q6ZSS7	MFSD6_HUMAN	major facilitator superfamily domain containing 6	424					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(3)|stomach(1)	23						TGAGGAGACACCAACCACCAC	0.498																																						ENST00000392328.1																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(3)|stomach(1)	23						c.(1270-1272)Cca>Tca		major facilitator superfamily domain containing 6							124	105	111					2																	191302025		2203	4300	6503	SO:0001583	missense	54842				transmembrane transport	integral to membrane		g.chr2:191302025C>T		CCDS2306.1	2q32.2	2008-10-29			ENSG00000151690	ENSG00000151690			24711	protein-coding gene	gene with protein product		613476					Standard	NM_017694		Approved	FLJ20160	uc002urz.2	Q6ZSS7	OTTHUMG00000132671	ENST00000392328.1:c.1270C>T	2.37:g.191302025C>T	ENSP00000376141:p.Pro424Ser					MFSD6_ENST00000281416.7_Missense_Mutation_p.P424S	p.P424S	NM_017694.3	NP_060164.3	Q6ZSS7	MFSD6_HUMAN			3	1594	+			424					D3KSZ4|Q86TH2|Q9NXM3	Missense_Mutation	SNP	ENST00000392328.1	37	c.1270C>T	CCDS2306.1	.	.	.	.	.	.	.	.	.	.	C	13.49	2.252940	0.39797	.	.	ENSG00000151690	ENST00000392328;ENST00000281416	T;T	0.33654	1.4;1.4	5.64	5.64	0.86602	Major facilitator superfamily domain, general substrate transporter (1);	0.181585	0.49305	D	0.000153	T	0.30039	0.0752	L	0.27053	0.805	0.80722	D	1	B	0.23316	0.083	B	0.15052	0.012	T	0.03034	-1.1080	10	0.45353	T	0.12	-17.5393	18.8715	0.92317	0.0:1.0:0.0:0.0	.	424	Q6ZSS7	MFSD6_HUMAN	S	424	ENSP00000376141:P424S;ENSP00000281416:P424S	ENSP00000281416:P424S	P	+	1	0	MFSD6	191010270	0.993000	0.37304	0.249000	0.24280	0.282000	0.26991	3.278000	0.51662	2.937000	0.99478	0.650000	0.86243	CCA		0.498	MFSD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255931.1			23	26	0	0	0	1	0	23	26					T	191302025	C	T	191302025	3	4	435	1	0	0	0	0	1	0	0	0	9535	507	18	3	1272	3	MFSD6	2	191302025	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	140464	191302025	51897348	1434	22359											
MFSD6	54842	broad.mit.edu	37	chr2	191302098	191302098	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gctctgcagcgtgcagtatgGctcagtgctgtttgtggctt	4	14	14	9	1	2	0	1	0	1	0	2	0	2	0	0	2	4	8	0	2	1	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:191302098G>A	ENST00000392328.1	+	3	1667	c.1343G>A	c.(1342-1344)gGc>gAc	p.G448D	MFSD6_ENST00000281416.7_Missense_Mutation_p.G448D	NM_017694.3	NP_060164.3	Q6ZSS7	MFSD6_HUMAN	major facilitator superfamily domain containing 6	448					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(3)|stomach(1)	23						GTGCAGTATGGCTCAGTGCTG	0.498																																						ENST00000392328.1																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(3)|stomach(1)	23						c.(1342-1344)gGc>gAc		major facilitator superfamily domain containing 6							308	246	267					2																	191302098		2203	4300	6503	SO:0001583	missense	54842				transmembrane transport	integral to membrane		g.chr2:191302098G>A		CCDS2306.1	2q32.2	2008-10-29			ENSG00000151690	ENSG00000151690			24711	protein-coding gene	gene with protein product		613476					Standard	NM_017694		Approved	FLJ20160	uc002urz.2	Q6ZSS7	OTTHUMG00000132671	ENST00000392328.1:c.1343G>A	2.37:g.191302098G>A	ENSP00000376141:p.Gly448Asp					MFSD6_ENST00000281416.7_Missense_Mutation_p.G448D	p.G448D	NM_017694.3	NP_060164.3	Q6ZSS7	MFSD6_HUMAN			3	1667	+			448					D3KSZ4|Q86TH2|Q9NXM3	Missense_Mutation	SNP	ENST00000392328.1	37	c.1343G>A	CCDS2306.1	.	.	.	.	.	.	.	.	.	.	G	23.6	4.433381	0.83776	.	.	ENSG00000151690	ENST00000392328;ENST00000281416	T;T	0.80824	-1.42;-1.42	5.45	5.45	0.79879	Major facilitator superfamily domain, general substrate transporter (1);	0.049943	0.85682	D	0.000000	T	0.79505	0.4457	L	0.27053	0.805	0.80722	D	1	D	0.54601	0.967	P	0.52514	0.701	T	0.77872	-0.2426	10	0.34782	T	0.22	-21.4889	18.4698	0.90769	0.0:0.0:1.0:0.0	.	448	Q6ZSS7	MFSD6_HUMAN	D	448	ENSP00000376141:G448D;ENSP00000281416:G448D	ENSP00000281416:G448D	G	+	2	0	MFSD6	191010343	1.000000	0.71417	0.997000	0.53966	0.836000	0.47400	7.701000	0.84566	2.835000	0.97688	0.650000	0.86243	GGC		0.498	MFSD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255931.1			58	97	0	0	0	1	0	58	97					A	191302098	G	A	191302098	3	1	435	1	0	0	0	0	1	0	0	0	9535	1203	42	3	1345	3	MFSD6	2	191302098	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	73	191302098	51897275	1435	22360											
STAT4	6775	broad.mit.edu	37	chr2	192011454	192011454	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agttttgaagaagaatcgttGccatggtttcattgttagaa	12	15	10	4	1	1	4	1	1	0	3	2	4	1	4	1	1	1	4	1	1	5	6			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:192011454G>A	ENST00000392320.2	-	3	472	c.158C>T	c.(157-159)gCa>gTa	p.A53V	STAT4_ENST00000358470.4_Missense_Mutation_p.A53V|STAT4_ENST00000409995.1_Missense_Mutation_p.A53V	NM_003151.3	NP_003142.1	Q14765	STAT4_HUMAN	signal transducer and activator of transcription 4	53					cell proliferation (GO:0008283)|cytokine-mediated signaling pathway (GO:0019221)|JAK-STAT cascade (GO:0007259)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			breast(4)|endometrium(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.0864)|all cancers(119;0.204)			AAGAATCGTTGCCATGGTTTC	0.318																																						ENST00000392320.2																			0				breast(4)|endometrium(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	42						c.(157-159)gCa>gTa		signal transducer and activator of transcription 4							77	74	75					2																	192011454		2203	4299	6502	SO:0001583	missense	6775				JAK-STAT cascade	cytoplasm|nucleus	calcium ion binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr2:192011454G>A		CCDS2310.1	2q32.2-q32.3	2013-02-14			ENSG00000138378	ENSG00000138378		"SH2 domain containing"	11365	protein-coding gene	gene with protein product		600558				8007943, 8700208	Standard	NM_003151		Approved		uc002usn.2	Q14765	OTTHUMG00000132700	ENST00000392320.2:c.158C>T	2.37:g.192011454G>A	ENSP00000376134:p.Ala53Val					STAT4_ENST00000358470.4_Missense_Mutation_p.A53V|STAT4_ENST00000409995.1_Missense_Mutation_p.A53V	p.A53V	NM_003151.3	NP_003142.1	Q14765	STAT4_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.0864)|all cancers(119;0.204)		3	472	-			53					Q96NZ6	Missense_Mutation	SNP	ENST00000392320.2	37	c.158C>T	CCDS2310.1	.	.	.	.	.	.	.	.	.	.	G	33	5.223582	0.95139	.	.	ENSG00000138378	ENST00000358470;ENST00000392320;ENST00000413064;ENST00000409995;ENST00000450994	T;T;T;T;T	0.59224	0.28;0.28;0.28;0.28;0.28	5.45	5.45	0.79879	STAT transcription factor, protein interaction (4);	0.193409	0.43416	D	0.000571	T	0.76990	0.4065	M	0.76574	2.34	0.58432	D	0.999996	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.72982	0.979;0.931;0.931	T	0.78041	-0.2359	10	0.66056	D	0.02	-33.1339	19.4782	0.94998	0.0:0.0:1.0:0.0	.	53;53;53	B4DSY7;B4DV04;Q14765	.;.;STAT4_HUMAN	V	53;53;26;53;53	ENSP00000351255:A53V;ENSP00000376134:A53V;ENSP00000403238:A26V;ENSP00000386288:A53V;ENSP00000412397:A53V	ENSP00000351255:A53V	A	-	2	0	STAT4	191719699	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.061000	0.89467	2.838000	0.97847	0.655000	0.94253	GCA		0.318	STAT4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335586.1	NM_003151		17	17	0	0	0	1	0	17	17					A	192011454	G	A	192011454	3	1	435	1	0	0	0	0	1	0	0	0	15266	1319	46	3	2176	3	STAT4	2	192011454	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	709356	192011454	51187919	1436	22361											
MYO1B	4430	broad.mit.edu	37	chr2	192225388	192225388	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaatctcgggttgttaaacaGccaagaggtgaaagaaactt	16	9	10	6	1	1	3	0	1	1	2	2	3	1	3	1	2	3	2	1	2	6	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:192225388G>A	ENST00000392318.3	+	8	841	c.594G>A	c.(592-594)caG>caA	p.Q198Q	MYO1B_ENST00000339514.4_Silent_p.Q198Q|MYO1B_ENST00000304164.4_Silent_p.Q198Q|MYO1B_ENST00000392316.1_Silent_p.Q198Q	NM_001130158.1	NP_001123630.1	O43795	MYO1B_HUMAN	myosin IB	198	Myosin motor.				actin filament bundle assembly (GO:0051017)|actin filament organization (GO:0007015)|actin filament-based movement (GO:0030048)|metabolic process (GO:0008152)|post-Golgi vesicle-mediated transport (GO:0006892)	actin filament (GO:0005884)|brush border (GO:0005903)|cell periphery (GO:0071944)|cytoplasm (GO:0005737)|early endosome (GO:0005769)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|myosin complex (GO:0016459)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			NS(1)|central_nervous_system(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(19)|ovary(1)	55			OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.104)|all cancers(119;0.236)			TTGTTAAACAGCCAAGAGGTG	0.398																																						ENST00000392318.3																			0				NS(1)|central_nervous_system(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(19)|ovary(1)	55						c.(592-594)caG>caA		myosin IB							204	206	205					2																	192225388		2203	4300	6503	SO:0001819	synonymous_variant	4430					myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	g.chr2:192225388G>A	L29138	CCDS2311.1, CCDS46477.1	2q12-q34	2011-09-27			ENSG00000128641	ENSG00000128641		"Myosins / Myosin superfamily : Class I"	7596	protein-coding gene	gene with protein product		606537				8022818, 8449985	Standard	NM_012223		Approved	myr1	uc010fsg.2	O43795	OTTHUMG00000132718	ENST00000392318.3:c.594G>A	2.37:g.192225388G>A						MYO1B_ENST00000339514.4_Silent_p.Q198Q|MYO1B_ENST00000392316.1_Silent_p.Q198Q|MYO1B_ENST00000304164.4_Silent_p.Q198Q	p.Q198Q	NM_001130158.1	NP_001123630.1	O43795	MYO1B_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.104)|all cancers(119;0.236)		8	841	+			198			Myosin head-like.		O43794|Q7Z6L5	Silent	SNP	ENST00000392318.3	37	c.594G>A	CCDS46477.1																																																																																				0.398	MYO1B-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334774.1	NM_012223		52	94	0	0	0	1	0	52	94					A	192225388	G	A	192225388	2	1	435	1	0	0	0	0	0	0	0	1	10069	962	34	3		3	MYO1B	2	192225388	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	213934	192225388	50973985	1437	22362											
MYO1B	4430	broad.mit.edu	37	chr2	192261212	192261212	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tagtaattcagtcttatatcCggggttggaaggtgagttta	10	15	12	4	1	2	1	1	1	1	0	3	2	3	2	1	4	0	3	1	4	6	8	rs546152958	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:192261212C>T	ENST00000392318.3	+	21	2531	c.2284C>T	c.(2284-2286)Cgg>Tgg	p.R762W	MYO1B_ENST00000339514.4_Missense_Mutation_p.R762W|MYO1B_ENST00000439065.2_Missense_Mutation_p.R36W|MYO1B_ENST00000304164.4_Missense_Mutation_p.R762W|MYO1B_ENST00000392316.1_Missense_Mutation_p.R762W	NM_001130158.1	NP_001123630.1	O43795	MYO1B_HUMAN	myosin IB	762	IQ 3. {ECO:0000255|PROSITE- ProRule:PRU00116}.				actin filament bundle assembly (GO:0051017)|actin filament organization (GO:0007015)|actin filament-based movement (GO:0030048)|metabolic process (GO:0008152)|post-Golgi vesicle-mediated transport (GO:0006892)	actin filament (GO:0005884)|brush border (GO:0005903)|cell periphery (GO:0071944)|cytoplasm (GO:0005737)|early endosome (GO:0005769)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|myosin complex (GO:0016459)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			NS(1)|central_nervous_system(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(19)|ovary(1)	55			OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.104)|all cancers(119;0.236)			GTCTTATATCCGGGGTTGGAA	0.393													C|||	3	0.000599042	0	0	5008	,	,		18844	0		0	False		,,,				2504	0.0031					ENST00000392318.3																			0				NS(1)|central_nervous_system(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(19)|ovary(1)	55						c.(2284-2286)Cgg>Tgg		myosin IB							135	135	135					2																	192261212		2203	4300	6503	SO:0001583	missense	4430					myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	g.chr2:192261212C>T	L29138	CCDS2311.1, CCDS46477.1	2q12-q34	2011-09-27			ENSG00000128641	ENSG00000128641		"Myosins / Myosin superfamily : Class I"	7596	protein-coding gene	gene with protein product		606537				8022818, 8449985	Standard	NM_012223		Approved	myr1	uc010fsg.2	O43795	OTTHUMG00000132718	ENST00000392318.3:c.2284C>T	2.37:g.192261212C>T	ENSP00000376132:p.Arg762Trp					MYO1B_ENST00000339514.4_Missense_Mutation_p.R762W|MYO1B_ENST00000392316.1_Missense_Mutation_p.R762W|MYO1B_ENST00000304164.4_Missense_Mutation_p.R762W|MYO1B_ENST00000439065.2_Missense_Mutation_p.R36W	p.R762W	NM_001130158.1	NP_001123630.1	O43795	MYO1B_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.104)|all cancers(119;0.236)		21	2531	+			762			IQ 3.		O43794|Q7Z6L5	Missense_Mutation	SNP	ENST00000392318.3	37	c.2284C>T	CCDS46477.1	.	.	.	.	.	.	.	.	.	.	C	18.84	3.708836	0.68615	.	.	ENSG00000128641	ENST00000339514;ENST00000392318;ENST00000304164;ENST00000392316;ENST00000439065	T;T;T;T;T	0.77098	-1.07;-1.07;-1.07;-1.07;-1.07	5.67	4.72	0.59763	.	0.000000	0.85682	D	0.000000	D	0.89504	0.6734	M	0.92317	3.295	0.49051	D	0.999742	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.90800	0.4693	10	0.87932	D	0	.	10.8018	0.46493	0.3187:0.6813:0.0:0.0	.	36;762;762	E7EPB4;O43795;O43795-2	.;MYO1B_HUMAN;.	W	762;762;762;762;36	ENSP00000341903:R762W;ENSP00000376132:R762W;ENSP00000306382:R762W;ENSP00000376130:R762W;ENSP00000391442:R36W	ENSP00000306382:R762W	R	+	1	2	MYO1B	191969457	0.993000	0.37304	1.000000	0.80357	0.997000	0.91878	0.715000	0.25822	2.667000	0.90743	0.655000	0.94253	CGG		0.393	MYO1B-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334774.1	NM_012223		37	70	0	0	0	1	0	37	70					T	192261212	C	T	192261212	3	4	435	1	0	0	0	0	1	0	0	0	10069	643	23	2	2362	2	MYO1B	2	192261212	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	35824	192261212	50938161	1438	22363											
SDPR	8436	broad.mit.edu	37	chr2	192701140	192701140	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctctctcctctctacagataCgatctttgtccccagcttgt	6	15	5	15	1	3	1	0	0	3	1	7	2	5	1	3	0	3	1	3	0	2	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:192701140C>T	ENST00000304141.4	-	2	1116	c.787G>A	c.(787-789)Gta>Ata	p.V263I		NM_004657.5	NP_004648.1			serum deprivation response											NS(1)|central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|urinary_tract(3)	23			OV - Ovarian serous cystadenocarcinoma(117;0.0647)			TCTACAGATACGATCTTTGTC	0.423																																						ENST00000304141.4																			0				NS(1)|central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|urinary_tract(3)	23						c.(787-789)Gta>Ata		serum deprivation response	Phosphatidylserine(DB00144)						220	237	231					2																	192701140		2203	4300	6503	SO:0001583	missense	8436					caveola|cytosol	phosphatidylserine binding|protein binding	g.chr2:192701140C>T	AF085481	CCDS2313.1	2q32-q33	2011-04-20	2009-09-18		ENSG00000168497	ENSG00000168497			10690	protein-coding gene	gene with protein product	"phosphatidylserine binding protein"	606728	"serum deprivation response (phosphatidylserine-binding protein)", "serum deprivation response (phosphatidylserine binding protein)"			10191091, 8241023	Standard	NM_004657		Approved	SDR, PS-p68, cavin-2, CAVIN2	uc002utb.3	O95810	OTTHUMG00000154309	ENST00000304141.4:c.787G>A	2.37:g.192701140C>T	ENSP00000305675:p.Val263Ile						p.V263I	NM_004657.5	NP_004648.1	O95810	SDPR_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0647)		2	1116	-			263						Missense_Mutation	SNP	ENST00000304141.4	37	c.787G>A	CCDS2313.1	.	.	.	.	.	.	.	.	.	.	C	26.4	4.729442	0.89390	.	.	ENSG00000168497	ENST00000304141	T	0.64438	-0.1	5.01	4.13	0.48395	.	0.065684	0.64402	N	0.000009	T	0.75369	0.3840	M	0.70275	2.135	0.58432	D	0.999992	D	0.76494	0.999	D	0.64877	0.93	T	0.78679	-0.2110	10	0.72032	D	0.01	-13.7961	13.3825	0.60775	0.0:0.9242:0.0:0.0758	.	263	O95810	SDPR_HUMAN	I	263	ENSP00000305675:V263I	ENSP00000305675:V263I	V	-	1	0	SDPR	192409385	1.000000	0.71417	0.996000	0.52242	0.974000	0.67602	5.932000	0.70121	1.349000	0.45751	0.563000	0.77884	GTA		0.423	SDPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334791.2	NM_004657		5	231	0	0	0	1	0	5	231					T	192701140	C	T	192701140	3	4	435	1	0	0	0	0	1	0	0	0	13970	536	19	1	494	1	SDPR	2	192701140	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	439928	192701140	50498233	1439	22364											
SDPR	8436	broad.mit.edu	37	chr2	192711277	192711277	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgcgctctttgaccgcgcgCgtgtgggcgctgaccttgcg	3	10	15	13	7	1	2	0	2	1	0	1	2	1	2	2	1	2	2	2	1	0	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:192711277C>T	ENST00000304141.4	-	1	704	c.375G>A	c.(373-375)acG>acA	p.T125T	AC098617.1_ENST00000424116.2_RNA	NM_004657.5	NP_004648.1			serum deprivation response											NS(1)|central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|urinary_tract(3)	23			OV - Ovarian serous cystadenocarcinoma(117;0.0647)			TGACCGCGCGCGTGTGGGCGC	0.602																																						ENST00000304141.4																			0				NS(1)|central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|urinary_tract(3)	23						c.(373-375)acG>acA		serum deprivation response	Phosphatidylserine(DB00144)						73	66	68					2																	192711277		2203	4300	6503	SO:0001819	synonymous_variant	8436					caveola|cytosol	phosphatidylserine binding|protein binding	g.chr2:192711277C>T	AF085481	CCDS2313.1	2q32-q33	2011-04-20	2009-09-18		ENSG00000168497	ENSG00000168497			10690	protein-coding gene	gene with protein product	"phosphatidylserine binding protein"	606728	"serum deprivation response (phosphatidylserine-binding protein)", "serum deprivation response (phosphatidylserine binding protein)"			10191091, 8241023	Standard	NM_004657		Approved	SDR, PS-p68, cavin-2, CAVIN2	uc002utb.3	O95810	OTTHUMG00000154309	ENST00000304141.4:c.375G>A	2.37:g.192711277C>T						AC098617.1_ENST00000424116.2_RNA	p.T125T	NM_004657.5	NP_004648.1	O95810	SDPR_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0647)		1	704	-			125						Silent	SNP	ENST00000304141.4	37	c.375G>A	CCDS2313.1																																																																																				0.602	SDPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334791.2	NM_004657		25	30	0	0	0	1	0	25	30					T	192711277	C	T	192711277	2	4	435	1	0	0	0	0	0	0	0	1	13970	755	27	1		1	SDPR	2	192711277	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	10137	192711277	50488096	1440	22365											
SDPR	8436	broad.mit.edu	37	chr2	192711441	192711441	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtgctggttctcctgcacagCgtctagcatgttcaccagct	6	12	10	13	1	3	0	1	0	2	0	4	0	3	0	2	1	5	6	2	1	1	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:192711441C>T	ENST00000304141.4	-	1	540	c.211G>A	c.(211-213)Gct>Act	p.A71T	AC098617.1_ENST00000424116.2_RNA	NM_004657.5	NP_004648.1			serum deprivation response											NS(1)|central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|urinary_tract(3)	23			OV - Ovarian serous cystadenocarcinoma(117;0.0647)			TCCTGCACAGCGTCTAGCATG	0.567																																						ENST00000304141.4																			0				NS(1)|central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|urinary_tract(3)	23						c.(211-213)Gct>Act		serum deprivation response	Phosphatidylserine(DB00144)						115	94	101					2																	192711441		2203	4300	6503	SO:0001583	missense	8436					caveola|cytosol	phosphatidylserine binding|protein binding	g.chr2:192711441C>T	AF085481	CCDS2313.1	2q32-q33	2011-04-20	2009-09-18		ENSG00000168497	ENSG00000168497			10690	protein-coding gene	gene with protein product	"phosphatidylserine binding protein"	606728	"serum deprivation response (phosphatidylserine-binding protein)", "serum deprivation response (phosphatidylserine binding protein)"			10191091, 8241023	Standard	NM_004657		Approved	SDR, PS-p68, cavin-2, CAVIN2	uc002utb.3	O95810	OTTHUMG00000154309	ENST00000304141.4:c.211G>A	2.37:g.192711441C>T	ENSP00000305675:p.Ala71Thr					AC098617.1_ENST00000424116.2_RNA	p.A71T	NM_004657.5	NP_004648.1	O95810	SDPR_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0647)		1	540	-			71						Missense_Mutation	SNP	ENST00000304141.4	37	c.211G>A	CCDS2313.1	.	.	.	.	.	.	.	.	.	.	C	11.47	1.648810	0.29336	.	.	ENSG00000168497	ENST00000304141	T	0.59224	0.28	4.62	-1.06	0.10002	.	0.896645	0.09759	N	0.759491	T	0.31702	0.0805	N	0.20530	0.585	0.09310	N	1	B	0.13145	0.007	B	0.06405	0.002	T	0.27365	-1.0076	10	0.02654	T	1	-2.8248	5.7567	0.18176	0.1997:0.4884:0.0:0.3119	.	71	O95810	SDPR_HUMAN	T	71	ENSP00000305675:A71T	ENSP00000305675:A71T	A	-	1	0	SDPR	192419686	0.000000	0.05858	0.444000	0.26895	0.970000	0.65996	-3.526000	0.00441	-0.092000	0.12417	0.484000	0.47621	GCT		0.567	SDPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334791.2	NM_004657		21	26	0	0	0	1	0	21	26					T	192711441	C	T	192711441	3	4	435	1	0	0	0	0	1	0	0	0	13970	768	27	1	1074	1	SDPR	2	192711441	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	164	192711441	50487932	1441	22366											
DNAH7	56171	broad.mit.edu	37	chr2	196636445	196636445	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttcagtaacttattgaacCgtcccatctcttggacaagt	10	14	6	11	1	3	1	1	1	2	0	5	2	4	2	2	1	2	1	2	1	4	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:196636445C>A	ENST00000312428.6	-	61	11472	c.11372G>T	c.(11371-11373)cGg>cTg	p.R3791L	DNAH7_ENST00000409063.1_Missense_Mutation_p.R274L	NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	3791					cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)	axonemal dynein complex (GO:0005858)|cilium (GO:0005929)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|microtubule motor activity (GO:0003777)			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						CTTATTGAACCGTCCCATCTC	0.403																																						ENST00000312428.6																			0				NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						c.(11371-11373)cGg>cTg		dynein, axonemal, heavy chain 7							259	236	244					2																	196636445		1943	4150	6093	SO:0001583	missense	56171				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr2:196636445C>A	AF327442	CCDS42794.1	2q33.1	2013-01-10	2006-09-04		ENSG00000118997	ENSG00000118997		"Axonemal dyneins", "EF-hand domain containing"	18661	protein-coding gene	gene with protein product		610061	"dynein, axonemal, heavy polypeptide 7"			9373155, 11877439	Standard	NM_018897		Approved	KIAA0944	uc002utj.4	Q8WXX0	OTTHUMG00000154438	ENST00000312428.6:c.11372G>T	2.37:g.196636445C>A	ENSP00000311273:p.Arg3791Leu					DNAH7_ENST00000409063.1_Missense_Mutation_p.R274L	p.R3791L	NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN			61	11472	-			3791					B8ZZX8|O00433|O95492|Q4G152|Q53QX7|Q53S64|Q53T02|Q68CY5|Q8N1Z2|Q9UMS3|Q9Y2F3	Missense_Mutation	SNP	ENST00000312428.6	37	c.11372G>T	CCDS42794.1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.405092	0.83230	.	.	ENSG00000118997	ENST00000312428;ENST00000409063	T;T	0.09723	2.95;2.95	5.08	5.08	0.68730	Dynein heavy chain (1);	0.000000	0.85682	D	0.000000	T	0.45776	0.1359	M	0.93939	3.475	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.59941	-0.7359	10	0.87932	D	0	.	18.2425	0.89971	0.0:1.0:0.0:0.0	.	3791	Q8WXX0	DYH7_HUMAN	L	3791;274	ENSP00000311273:R3791L;ENSP00000386912:R274L	ENSP00000311273:R3791L	R	-	2	0	DNAH7	196344690	1.000000	0.71417	0.970000	0.41538	0.660000	0.38997	6.913000	0.75759	2.630000	0.89119	0.655000	0.94253	CGG		0.403	DNAH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335202.3	NM_018897		38	114	1	0	1.07121e-22	1	1.19187e-22	38	114					A	196636445	C	A	196636445	3	1	435	1	0	0	0	0	1	0	0	0	4606	652	23	5	722	5	DNAH7	2	196636445	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	3925004	196636445	46562928	1442	22367											
DNAH7	56171	broad.mit.edu	37	chr2	196729521	196729521	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cgaagattatccacatctgcGatttctctgtagttggtatc	9	15	8	9	2	2	1	0	0	2	1	5	3	3	1	1	1	1	3	1	1	4	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:196729521G>A	ENST00000312428.6	-	41	6958	c.6858C>T	c.(6856-6858)atC>atT	p.I2286I		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	2286					cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)	axonemal dynein complex (GO:0005858)|cilium (GO:0005929)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|microtubule motor activity (GO:0003777)			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						CCACATCTGCGATTTCTCTGT	0.378																																						ENST00000312428.6																			0				NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						c.(6856-6858)atC>atT		dynein, axonemal, heavy chain 7							210	198	202					2																	196729521		1896	4119	6015	SO:0001819	synonymous_variant	56171				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr2:196729521G>A	AF327442	CCDS42794.1	2q33.1	2013-01-10	2006-09-04		ENSG00000118997	ENSG00000118997		"Axonemal dyneins", "EF-hand domain containing"	18661	protein-coding gene	gene with protein product		610061	"dynein, axonemal, heavy polypeptide 7"			9373155, 11877439	Standard	NM_018897		Approved	KIAA0944	uc002utj.4	Q8WXX0	OTTHUMG00000154438	ENST00000312428.6:c.6858C>T	2.37:g.196729521G>A							p.I2286I	NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN			41	6958	-			2286					B8ZZX8|O00433|O95492|Q4G152|Q53QX7|Q53S64|Q53T02|Q68CY5|Q8N1Z2|Q9UMS3|Q9Y2F3	Silent	SNP	ENST00000312428.6	37	c.6858C>T	CCDS42794.1																																																																																				0.378	DNAH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335202.3	NM_018897		41	59	0	0	0	1	0	41	59					A	196729521	G	A	196729521	2	1	435	1	0	0	0	0	0	0	0	1	4606	1048	37	2		2	DNAH7	2	196729521	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	93076	196729521	46469852	1443	22368											
DNAH7	56171	broad.mit.edu	37	chr2	196765102	196765102	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgctctgaacacaagcgataCgtagccacaatttttacaga	14	10	7	10	2	1	2	0	1	1	1	1	3	1	2	1	0	6	2	1	0	6	5	rs564616488		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:196765102C>T	ENST00000312428.6	-	28	4552	c.4452G>A	c.(4450-4452)acG>acA	p.T1484T		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	1484	AAA 1. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)	axonemal dynein complex (GO:0005858)|cilium (GO:0005929)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|microtubule motor activity (GO:0003777)			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						ACAAGCGATACGTAGCCACAA	0.458													C|||	1	0.000199681	8e-04	0	5008	,	,		18185	0		0	False		,,,				2504	0					ENST00000312428.6																			0				NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						c.(4450-4452)acG>acA		dynein, axonemal, heavy chain 7							169	170	170					2																	196765102		2007	4178	6185	SO:0001819	synonymous_variant	56171				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr2:196765102C>T	AF327442	CCDS42794.1	2q33.1	2013-01-10	2006-09-04		ENSG00000118997	ENSG00000118997		"Axonemal dyneins", "EF-hand domain containing"	18661	protein-coding gene	gene with protein product		610061	"dynein, axonemal, heavy polypeptide 7"			9373155, 11877439	Standard	NM_018897		Approved	KIAA0944	uc002utj.4	Q8WXX0	OTTHUMG00000154438	ENST00000312428.6:c.4452G>A	2.37:g.196765102C>T							p.T1484T	NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN			28	4552	-			1484			AAA 1 (By similarity).		B8ZZX8|O00433|O95492|Q4G152|Q53QX7|Q53S64|Q53T02|Q68CY5|Q8N1Z2|Q9UMS3|Q9Y2F3	Silent	SNP	ENST00000312428.6	37	c.4452G>A	CCDS42794.1																																																																																				0.458	DNAH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335202.3	NM_018897		39	63	0	0	0	1	0	39	63					T	196765102	C	T	196765102	2	4	435	1	0	0	0	0	0	0	0	1	4606	523	19	1		1	DNAH7	2	196765102	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	35581	196765102	46434271	1444	22369											
DNAH7	56171	broad.mit.edu	37	chr2	196799426	196799426	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agttctacaacctctccttcGctgctcttcatgtgagtaat	8	15	6	12	1	4	1	1	1	3	0	6	1	4	1	2	0	3	4	2	0	3	5	rs199987634		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:196799426G>A	ENST00000312428.6	-	21	3460	c.3360C>T	c.(3358-3360)agC>agT	p.S1120S		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	1120	Stem. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)	axonemal dynein complex (GO:0005858)|cilium (GO:0005929)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|microtubule motor activity (GO:0003777)			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						CCTCTCCTTCGCTGCTCTTCA	0.398																																						ENST00000312428.6																			0				NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						c.(3358-3360)agC>agT		dynein, axonemal, heavy chain 7							134	128	130					2																	196799426		1865	4105	5970	SO:0001819	synonymous_variant	56171				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr2:196799426G>A	AF327442	CCDS42794.1	2q33.1	2013-01-10	2006-09-04		ENSG00000118997	ENSG00000118997		"Axonemal dyneins", "EF-hand domain containing"	18661	protein-coding gene	gene with protein product		610061	"dynein, axonemal, heavy polypeptide 7"			9373155, 11877439	Standard	NM_018897		Approved	KIAA0944	uc002utj.4	Q8WXX0	OTTHUMG00000154438	ENST00000312428.6:c.3360C>T	2.37:g.196799426G>A							p.S1120S	NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN			21	3460	-			1120			Stem (By similarity).		B8ZZX8|O00433|O95492|Q4G152|Q53QX7|Q53S64|Q53T02|Q68CY5|Q8N1Z2|Q9UMS3|Q9Y2F3	Silent	SNP	ENST00000312428.6	37	c.3360C>T	CCDS42794.1																																																																																				0.398	DNAH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335202.3	NM_018897		43	70	0	0	0	1	0	43	70					A	196799426	G	A	196799426	2	1	435	1	0	0	0	0	0	0	0	1	4606	1078	38	1		1	DNAH7	2	196799426	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	34324	196799426	46399947	1445	22370											
DNAH7	56171	broad.mit.edu	37	chr2	196865487	196865487	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actgacagctttaatcatgaCgtcataaacatttagaaaga	17	11	6	7	1	2	4	2	2	0	2	2	4	2	4	0	0	2	1	0	0	5	5	rs565395707		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:196865487C>T	ENST00000312428.6	-	12	1394	c.1294G>A	c.(1294-1296)Gtc>Atc	p.V432I	DNAH7_ENST00000410072.1_Missense_Mutation_p.V432I	NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	432	Stem. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)	axonemal dynein complex (GO:0005858)|cilium (GO:0005929)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|microtubule motor activity (GO:0003777)			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						TTAATCATGACGTCATAAACA	0.338													C|||	1	0.000199681	0	0	5008	,	,		18639	0		0.001	False		,,,				2504	0					ENST00000312428.6																			0				NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						c.(1294-1296)Gtc>Atc		dynein, axonemal, heavy chain 7							165	167	166					2																	196865487		1838	4082	5920	SO:0001583	missense	56171				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr2:196865487C>T	AF327442	CCDS42794.1	2q33.1	2013-01-10	2006-09-04		ENSG00000118997	ENSG00000118997		"Axonemal dyneins", "EF-hand domain containing"	18661	protein-coding gene	gene with protein product		610061	"dynein, axonemal, heavy polypeptide 7"			9373155, 11877439	Standard	NM_018897		Approved	KIAA0944	uc002utj.4	Q8WXX0	OTTHUMG00000154438	ENST00000312428.6:c.1294G>A	2.37:g.196865487C>T	ENSP00000311273:p.Val432Ile					DNAH7_ENST00000410072.1_Missense_Mutation_p.V432I	p.V432I	NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN			12	1394	-			432			Stem (By similarity).		B8ZZX8|O00433|O95492|Q4G152|Q53QX7|Q53S64|Q53T02|Q68CY5|Q8N1Z2|Q9UMS3|Q9Y2F3	Missense_Mutation	SNP	ENST00000312428.6	37	c.1294G>A	CCDS42794.1	.	.	.	.	.	.	.	.	.	.	C	10.66	1.412545	0.25465	.	.	ENSG00000118997	ENST00000312428;ENST00000410072;ENST00000312446	T;T	0.21543	2.0;2.9	5.72	0.501	0.16925	.	0.665837	0.11293	N	0.578982	T	0.11750	0.0286	N	0.13098	0.295	0.20074	N	0.999939	B	0.10296	0.003	B	0.04013	0.001	T	0.30357	-0.9981	10	0.35671	T	0.21	.	9.1008	0.36667	0.0:0.5137:0.0:0.4863	.	432	Q8WXX0	DYH7_HUMAN	I	432	ENSP00000311273:V432I;ENSP00000386260:V432I	ENSP00000311273:V432I	V	-	1	0	DNAH7	196573732	0.001000	0.12720	0.925000	0.36789	0.945000	0.59286	-0.131000	0.10482	0.014000	0.14944	0.637000	0.83480	GTC		0.338	DNAH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335202.3	NM_018897		5	202	0	0	0	1	0	5	202					T	196865487	C	T	196865487	3	4	435	1	0	0	0	0	1	0	0	0	4606	536	19	1	10996	1	DNAH7	2	196865487	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	66061	196865487	46333886	1446	22371											
STK17B	9262	broad.mit.edu	37	chr2	197004383	197004383	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggctctgaataaagtctgtgGccagctgtgaaactgatgaa	12	10	12	7	0	2	4	0	4	2	0	2	4	2	4	1	2	2	2	1	2	5	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:197004383G>A	ENST00000263955.4	-	7	1083	c.797C>T	c.(796-798)gCc>gTc	p.A266V	STK17B_ENST00000409228.1_Missense_Mutation_p.A266V	NM_004226.3	NP_004217.1	O94768	ST17B_HUMAN	serine/threonine kinase 17b	266	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|intracellular signal transduction (GO:0035556)|positive regulation of fibroblast apoptotic process (GO:2000271)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)	actin cytoskeleton (GO:0015629)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|cervix(1)|kidney(2)|large_intestine(1)|lung(10)	15			OV - Ovarian serous cystadenocarcinoma(117;0.141)			AAAGTCTGTGGCCAGCTGTGA	0.284																																						ENST00000263955.4																			0				breast(1)|cervix(1)|kidney(2)|large_intestine(1)|lung(10)	15						c.(796-798)gCc>gTc		serine/threonine kinase 17b							74	78	77					2																	197004383		2203	4298	6501	SO:0001583	missense	9262				apoptosis|induction of apoptosis|intracellular protein kinase cascade	nucleus	ATP binding|protein serine/threonine kinase activity	g.chr2:197004383G>A	AB011421	CCDS2315.1	2q33.1	2008-02-05	2007-02-12		ENSG00000081320	ENSG00000081320			11396	protein-coding gene	gene with protein product	"death-associated protein kinase-related 2"	604727	"serine/threonine kinase 17b (apoptosis-inducing)"			9786912	Standard	NM_004226		Approved	DRAK2	uc002utk.3	O94768	OTTHUMG00000132735	ENST00000263955.4:c.797C>T	2.37:g.197004383G>A	ENSP00000263955:p.Ala266Val					STK17B_ENST00000409228.1_Missense_Mutation_p.A266V	p.A266V	NM_004226.3	NP_004217.1	O94768	ST17B_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.141)		7	1083	-			266			Protein kinase.			Missense_Mutation	SNP	ENST00000263955.4	37	c.797C>T	CCDS2315.1	.	.	.	.	.	.	.	.	.	.	G	30	5.056682	0.93793	.	.	ENSG00000081320	ENST00000263955;ENST00000409228	T;T	0.66815	-0.23;-0.23	5.02	5.02	0.67125	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.47093	D	0.000257	T	0.82190	0.4983	M	0.75085	2.285	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.84312	0.0511	10	0.87932	D	0	.	18.5138	0.90928	0.0:0.0:1.0:0.0	.	266	O94768	ST17B_HUMAN	V	266	ENSP00000263955:A266V;ENSP00000386853:A266V	ENSP00000263955:A266V	A	-	2	0	STK17B	196712628	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.001000	0.93568	2.589000	0.87451	0.591000	0.81541	GCC		0.284	STK17B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256092.2			26	65	0	0	0	1	0	26	65					A	197004383	G	A	197004383	3	1	435	1	0	0	0	0	1	0	0	0	15290	1203	42	3	329	3	STK17B	2	197004383	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	138896	197004383	46194990	1447	22372											
CCDC150	284992	broad.mit.edu	37	chr2	197540891	197540891	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcagaaaatgatgacgcagAcatttcaagaacaaaactta	20	7	7	7	1	1	5	1	2	0	3	1	5	1	5	0	0	3	2	0	0	7	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:197540891A>G	ENST00000389175.4	+	11	1297	c.1162A>G	c.(1162-1164)Aca>Gca	p.T388A	CCDC150_ENST00000272831.7_Missense_Mutation_p.T56A|CCDC150_ENST00000423093.2_Missense_Mutation_p.T56A|CCDC150_ENST00000472405.2_3'UTR	NM_001080539.1	NP_001074008.1	Q8NCX0	CC150_HUMAN	coiled-coil domain containing 150	388										breast(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(14)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	33						GATGACGCAGACATTTCAAGA	0.403																																						ENST00000389175.4																			0				breast(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(14)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	33						c.(1162-1164)Aca>Gca		coiled-coil domain containing 150							106	103	104					2																	197540891		1899	4131	6030	SO:0001583	missense	284992							g.chr2:197540891A>G		CCDS46478.1	2q33.1	2008-04-10			ENSG00000144395	ENSG00000144395			26834	protein-coding gene	gene with protein product							Standard	NM_001080539		Approved	FLJ39660	uc002utp.1	Q8NCX0	OTTHUMG00000154475	ENST00000389175.4:c.1162A>G	2.37:g.197540891A>G	ENSP00000373827:p.Thr388Ala					CCDC150_ENST00000472405.2_3'UTR|CCDC150_ENST00000423093.2_Missense_Mutation_p.T56A|CCDC150_ENST00000272831.7_Missense_Mutation_p.T56A	p.T388A	NM_001080539.1	NP_001074008.1	Q8NCX0	CC150_HUMAN			11	1297	+			388					Q6P5U6|Q6P663|Q8N8V5	Missense_Mutation	SNP	ENST00000389175.4	37	c.1162A>G	CCDS46478.1	.	.	.	.	.	.	.	.	.	.	A	11.35	1.611661	0.28712	.	.	ENSG00000144395	ENST00000272831;ENST00000389175;ENST00000423093	T	0.44083	0.93	5.27	2.94	0.34122	.	0.268520	0.29021	N	0.013396	T	0.31420	0.0796	L	0.51422	1.61	0.22305	N	0.999212	B;B	0.16396	0.007;0.017	B;B	0.12156	0.005;0.007	T	0.22521	-1.0214	10	0.16420	T	0.52	.	7.4061	0.26991	0.8272:0.0:0.1728:0.0	.	56;388	B4DZ03;Q8NCX0	.;CC150_HUMAN	A	56;388;56	ENSP00000373827:T388A	ENSP00000272831:T56A	T	+	1	0	CCDC150	197249136	1.000000	0.71417	0.998000	0.56505	0.811000	0.45836	3.708000	0.54845	0.480000	0.27534	0.460000	0.39030	ACA		0.403	CCDC150-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335377.2	NM_001080539		22	41	0	0	0	1	0	22	41					G	197540891	A	G	197540891	3	3	435	1	0	0	0	0	1	0	0	0	2785	275	10	4	1204	4	CCDC150	2	197540891	Missense_Mutation	SNP	A	TCGA-XK-AAIW-01A-11D-A41K-08	536508	197540891	45658482	1448	22373											
ANKRD44	91526	broad.mit.edu	37	chr2	197870470	197870470	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccttggttatctttgaaacaAcagtcctcctcagaaagagc	12	11	7	11	0	2	3	1	1	1	2	4	3	4	3	3	1	3	1	3	1	4	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:197870470A>G	ENST00000328737.2	-	21	2296	c.2220T>C	c.(2218-2220)tgT>tgC	p.C740C	ANKRD44_ENST00000282272.8_Silent_p.C757C|ANKRD44_ENST00000337207.5_Silent_p.C740C|ANKRD44_ENST00000450567.1_Silent_p.C740C			Q8N8A2	ANR44_HUMAN	ankyrin repeat domain 44	765										NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(20)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	45			OV - Ovarian serous cystadenocarcinoma(117;0.246)			CTTTGAAACAACAGTCCTCCT	0.532																																						ENST00000328737.2																			0				NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(20)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	45						c.(2218-2220)tgT>tgC		ankyrin repeat domain 44							127	120	123					2																	197870470		2203	4300	6503	SO:0001819	synonymous_variant	91526						protein binding	g.chr2:197870470A>G	AK097086	CCDS33355.1, CCDS33355.2, CCDS74619.1	2q33.1	2013-01-10			ENSG00000065413	ENSG00000065413		"Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits", "Ankyrin repeat domain containing"	25259	protein-coding gene	gene with protein product	"protein phosphatase 6 ankyrin repeat subunit B"						Standard	NM_153697		Approved	PP6-ARS-B	uc021vuj.1	Q8N8A2	OTTHUMG00000154411	ENST00000328737.2:c.2220T>C	2.37:g.197870470A>G						ANKRD44_ENST00000450567.1_Silent_p.C740C|ANKRD44_ENST00000337207.5_Silent_p.C740C|ANKRD44_ENST00000282272.8_Silent_p.C757C	p.C740C			Q8N8A2	ANR44_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.246)		21	2296	-			765					Q53SL9|Q6P480|Q86VL5|Q8IZ72|Q9UFA4	Silent	SNP	ENST00000328737.2	37	c.2220T>C																																																																																					0.532	ANKRD44-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000335113.1	NM_153697		29	41	0	0	0	1	0	29	41					G	197870470	A	G	197870470	2	3	435	1	0	0	0	0	0	0	0	1	672	41	2	4		4	ANKRD44	2	197870470	Silent	SNP	A	TCGA-XK-AAIW-01A-11D-A41K-08	329579	197870470	45328903	1449	22374											
ANKRD44	91526	broad.mit.edu	37	chr2	197878290	197878290	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctttcacaaagatggatgcGccctgattgataagcgcttc	10	12	9	10	2	2	3	1	2	1	1	3	4	2	4	1	1	2	1	1	1	2	4	rs200094490		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:197878290G>A	ENST00000328737.2	-	18	1870	c.1794C>T	c.(1792-1794)ggC>ggT	p.G598G	ANKRD44_ENST00000282272.8_Silent_p.G615G|ANKRD44_ENST00000337207.5_Silent_p.G598G|ANKRD44_ENST00000450567.1_Silent_p.G598G			Q8N8A2	ANR44_HUMAN	ankyrin repeat domain 44	623										NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(20)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	45			OV - Ovarian serous cystadenocarcinoma(117;0.246)			AGATGGATGCGCCCTGATTGA	0.493																																						ENST00000328737.2																			0				NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(20)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	45						c.(1792-1794)ggC>ggT		ankyrin repeat domain 44		G		0,4406		0,0,2203	213	200	205		1869	-4.3	0.7	2		205	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	ANKRD44	NM_001195144.1		0,2,6501	AA,AG,GG		0.0233,0.0,0.0154		623/994	197878290	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	91526						protein binding	g.chr2:197878290G>A	AK097086	CCDS33355.1, CCDS33355.2, CCDS74619.1	2q33.1	2013-01-10			ENSG00000065413	ENSG00000065413		"Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits", "Ankyrin repeat domain containing"	25259	protein-coding gene	gene with protein product	"protein phosphatase 6 ankyrin repeat subunit B"						Standard	NM_153697		Approved	PP6-ARS-B	uc021vuj.1	Q8N8A2	OTTHUMG00000154411	ENST00000328737.2:c.1794C>T	2.37:g.197878290G>A						ANKRD44_ENST00000450567.1_Silent_p.G598G|ANKRD44_ENST00000337207.5_Silent_p.G598G|ANKRD44_ENST00000282272.8_Silent_p.G615G	p.G598G			Q8N8A2	ANR44_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.246)		18	1870	-			623					Q53SL9|Q6P480|Q86VL5|Q8IZ72|Q9UFA4	Silent	SNP	ENST00000328737.2	37	c.1794C>T																																																																																					0.493	ANKRD44-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000335113.1	NM_153697		59	70	0	0	0	1	0	59	70					A	197878290	G	A	197878290	2	1	435	1	0	0	0	0	0	0	0	1	672	1074	38	1		1	ANKRD44	2	197878290	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	7820	197878290	45321083	1450	22375											
ANKRD44	91526	broad.mit.edu	37	chr2	197990131	197990131	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgctgcccagtgcagagcaCgccggtccttcttgtcaaat	8	10	10	13	2	2	1	1	0	1	1	3	1	3	1	3	1	4	3	3	1	1	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:197990131C>T	ENST00000328737.2	-	6	525	c.449G>A	c.(448-450)cGt>cAt	p.R150H	ANKRD44_ENST00000282272.8_Missense_Mutation_p.R167H|ANKRD44_ENST00000409919.1_Missense_Mutation_p.R175H|ANKRD44_ENST00000337207.5_Missense_Mutation_p.R150H|ANKRD44_ENST00000539527.1_Missense_Mutation_p.R103H|ANKRD44_ENST00000450567.1_Missense_Mutation_p.R150H|ANKRD44_ENST00000409153.1_Missense_Mutation_p.R175H			Q8N8A2	ANR44_HUMAN	ankyrin repeat domain 44	175										NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(20)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	45			OV - Ovarian serous cystadenocarcinoma(117;0.246)			GTGCAGAGCACGCCGGTCCTT	0.423																																						ENST00000328737.2																			0				NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(20)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	45						c.(448-450)cGt>cAt		ankyrin repeat domain 44							121	113	116					2																	197990131		2203	4300	6503	SO:0001583	missense	91526						protein binding	g.chr2:197990131C>T	AK097086	CCDS33355.1, CCDS33355.2, CCDS74619.1	2q33.1	2013-01-10			ENSG00000065413	ENSG00000065413		"Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits", "Ankyrin repeat domain containing"	25259	protein-coding gene	gene with protein product	"protein phosphatase 6 ankyrin repeat subunit B"						Standard	NM_153697		Approved	PP6-ARS-B	uc021vuj.1	Q8N8A2	OTTHUMG00000154411	ENST00000328737.2:c.449G>A	2.37:g.197990131C>T	ENSP00000331516:p.Arg150His					ANKRD44_ENST00000337207.5_Missense_Mutation_p.R150H|ANKRD44_ENST00000409919.1_Missense_Mutation_p.R175H|ANKRD44_ENST00000282272.8_Missense_Mutation_p.R167H|ANKRD44_ENST00000409153.1_Missense_Mutation_p.R175H|ANKRD44_ENST00000450567.1_Missense_Mutation_p.R150H|ANKRD44_ENST00000539527.1_Missense_Mutation_p.R103H	p.R150H			Q8N8A2	ANR44_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.246)		6	525	-			175					Q53SL9|Q6P480|Q86VL5|Q8IZ72|Q9UFA4	Missense_Mutation	SNP	ENST00000328737.2	37	c.449G>A		.	.	.	.	.	.	.	.	.	.	C	23.2	4.385257	0.82792	.	.	ENSG00000065413	ENST00000282272;ENST00000328737;ENST00000450567;ENST00000337207;ENST00000409153;ENST00000539527;ENST00000409919	T;T;T;T;T;T;T	0.22134	2.4;2.4;2.4;2.41;2.41;1.97;2.4	5.06	5.06	0.68205	.	0.067633	0.64402	D	0.000014	T	0.30541	0.0768	N	0.21508	0.67	0.58432	D	0.999999	B;D	0.76494	0.187;0.999	B;P	0.60068	0.071;0.868	T	0.03175	-1.1064	10	0.44086	T	0.13	.	18.6181	0.91310	0.0:1.0:0.0:0.0	.	103;175	F5H682;Q8N8A2-3	.;.	H	167;150;150;150;175;103;175	ENSP00000282272:R167H;ENSP00000331516:R150H;ENSP00000402420:R150H;ENSP00000338794:R150H;ENSP00000387141:R175H;ENSP00000437825:R103H;ENSP00000387233:R175H	ENSP00000282272:R167H	R	-	2	0	ANKRD44	197698376	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	4.743000	0.62110	2.612000	0.88384	0.655000	0.94253	CGT		0.423	ANKRD44-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000335113.1	NM_153697		29	34	0	0	0	1	0	29	34					T	197990131	C	T	197990131	3	4	435	1	0	0	0	0	1	0	0	0	672	536	19	1	2394	1	ANKRD44	2	197990131	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	111841	197990131	45209242	1451	22376											
HSPD1	3329	broad.mit.edu	37	chr2	198353833	198353833	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctcaatgatttcttgaatacGtttttcaatttgagccttgt	9	19	6	7	1	3	3	2	3	1	0	3	3	3	3	1	0	2	1	1	0	4	7			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:198353833G>A	ENST00000388968.3	-	9	1375	c.1108C>T	c.(1108-1110)Cgt>Tgt	p.R370C	HSPD1_ENST00000345042.2_Missense_Mutation_p.R370C	NM_002156.4	NP_002147.2	P10809	CH60_HUMAN	heat shock 60kDa protein 1 (chaperonin)	370					'de novo' protein folding (GO:0006458)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|ATP catabolic process (GO:0006200)|B cell activation (GO:0042113)|B cell cytokine production (GO:0002368)|B cell proliferation (GO:0042100)|chaperone-mediated protein complex assembly (GO:0051131)|isotype switching to IgG isotypes (GO:0048291)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|negative regulation of apoptotic process (GO:0043066)|positive regulation of apoptotic process (GO:0043065)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of macrophage activation (GO:0043032)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell mediated immune response to tumor cell (GO:0002842)|protein maturation (GO:0051604)|protein refolding (GO:0042026)|protein stabilization (GO:0050821)|response to unfolded protein (GO:0006986)|T cell activation (GO:0042110)|viral process (GO:0016032)	cell surface (GO:0009986)|coated pit (GO:0005905)|coated vesicle (GO:0030135)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lipopolysaccharide receptor complex (GO:0046696)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|secretory granule (GO:0030141)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|chaperone binding (GO:0051087)|DNA replication origin binding (GO:0003688)|double-stranded RNA binding (GO:0003725)|lipopolysaccharide binding (GO:0001530)|p53 binding (GO:0002039)|poly(A) RNA binding (GO:0044822)|single-stranded DNA binding (GO:0003697)|unfolded protein binding (GO:0051082)	p.R370S(1)		NS(1)|breast(3)|endometrium(2)|large_intestine(3)|lung(7)|skin(1)	17			Epithelial(96;0.225)			TCTTGAATACGTTTTTCAATT	0.398																																						ENST00000388968.3																			1	Substitution - Missense(1)	p.R370S(1)	endometrium(1)	NS(1)|breast(3)|endometrium(2)|large_intestine(3)|lung(7)|skin(1)	17						c.(1108-1110)Cgt>Tgt		heat shock 60kDa protein 1 (chaperonin)							78	73	75					2																	198353833		2203	4300	6503	SO:0001583	missense	3329				'de novo' protein folding|activation of caspase activity|B cell cytokine production|B cell proliferation|chaperone-mediated protein complex assembly|interspecies interaction between organisms|isotype switching to IgG isotypes|MyD88-dependent toll-like receptor signaling pathway|negative regulation of apoptosis|positive regulation of apoptosis|positive regulation of interferon-alpha production|positive regulation of interferon-gamma production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of macrophage activation|positive regulation of T cell activation|positive regulation of T cell mediated immune response to tumor cell|protein maturation|protein refolding|protein stabilization|response to unfolded protein|T cell activation	cell surface|coated pit|coated vesicle|cytosol|early endosome|extracellular space|lipopolysaccharide receptor complex|mitochondrial inner membrane|mitochondrial matrix|stored secretory granule	ATP binding|ATPase activity|cell surface binding|chaperone binding|DNA replication origin binding|lipopolysaccharide binding|p53 binding|single-stranded DNA binding	g.chr2:198353833G>A	M34664	CCDS33357.1	2q33.1	2011-09-02	2002-08-29		ENSG00000144381	ENSG00000144381		"Heat Shock Proteins / Chaperonins"	5261	protein-coding gene	gene with protein product		118190	"heat shock 60kD protein 1 (chaperonin)", "spastic paraplegia 13 (autosomal dominant)"	SPG13		1980192, 11898127	Standard	NM_002156		Approved	GROEL, HSP60	uc002uui.3	P10809	OTTHUMG00000154463	ENST00000388968.3:c.1108C>T	2.37:g.198353833G>A	ENSP00000373620:p.Arg370Cys					HSPD1_ENST00000345042.2_Missense_Mutation_p.R370C	p.R370C	NM_002156.4	NP_002147.2	P10809	CH60_HUMAN	Epithelial(96;0.225)		9	1375	-			370					B2R5M6|B7Z712|Q38L19|Q9UCR6	Missense_Mutation	SNP	ENST00000388968.3	37	c.1108C>T	CCDS33357.1	.	.	.	.	.	.	.	.	.	.	G	19.54	3.847630	0.71603	.	.	ENSG00000144381	ENST00000388968;ENST00000345042;ENST00000536745	T;T	0.73047	-0.71;-0.71	4.99	4.99	0.66335	.	0.000000	0.85682	D	0.000000	D	0.85898	0.5804	H	0.94582	3.555	0.80722	D	1	P;B;B	0.43024	0.798;0.41;0.018	P;B;B	0.51415	0.669;0.312;0.012	D	0.89892	0.4038	10	0.87932	D	0	-0.5346	18.625	0.91334	0.0:0.0:1.0:0.0	.	361;370;370	B7Z597;B3GQS7;P10809	.;.;CH60_HUMAN	C	370;370;226	ENSP00000373620:R370C;ENSP00000340019:R370C	ENSP00000340019:R370C	R	-	1	0	HSPD1	198062078	1.000000	0.71417	1.000000	0.80357	0.905000	0.53344	7.841000	0.86834	2.464000	0.83262	0.484000	0.47621	CGT		0.398	HSPD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335324.2	NM_002156		34	39	0	0	0	1	0	34	39					A	198353833	G	A	198353833	3	1	435	1	0	0	0	0	1	0	0	0	7428	1145	40	1	629	1	HSPD1	2	198353833	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	363702	198353833	44845540	1452	22377											
RFTN2	130132	broad.mit.edu	37	chr2	198511274	198511274	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taggtgttttcgctgccccaCaggttgtataacaggatgaa	10	12	11	8	1	0	1	0	1	0	0	1	2	0	2	2	3	2	4	2	3	4	6	rs373512688		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:198511274C>T	ENST00000295049.4	-	2	792	c.256G>A	c.(256-258)Gtg>Atg	p.V86M		NM_144629.2	NP_653230.2	Q52LD8	RFTN2_HUMAN	raftlin family member 2	86					dsRNA transport (GO:0033227)|response to exogenous dsRNA (GO:0043330)	plasma membrane (GO:0005886)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(13)|urinary_tract(3)	30						CGCTGCCCCACAGGTTGTATA	0.388																																						ENST00000295049.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(13)|urinary_tract(3)	30						c.(256-258)Gtg>Atg		raftlin family member 2		C	MET/VAL	0,4406		0,0,2203	144	144	144		256	3.6	0.6	2		144	1,8599	1.2+/-3.3	0,1,4299	no	missense	RFTN2	NM_144629.2	21	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	86/502	198511274	1,13005	2203	4300	6503	SO:0001583	missense	130132					plasma membrane		g.chr2:198511274C>T	AK055136	CCDS2323.1	2q33.1	2008-02-05	2006-09-28	2006-09-28	ENSG00000162944	ENSG00000162944			26402	protein-coding gene	gene with protein product			"chromosome 2 open reading frame 11"	C2orf11			Standard	NM_144629		Approved	FLJ30574, Raftlin-2	uc002uuo.4	Q52LD8	OTTHUMG00000132746	ENST00000295049.4:c.256G>A	2.37:g.198511274C>T	ENSP00000295049:p.Val86Met						p.V86M	NM_144629.2	NP_653230.2	Q52LD8	RFTN2_HUMAN			2	792	-			86					Q14DH4|Q2TA69|Q53QE0|Q53SE1|Q96NM3	Missense_Mutation	SNP	ENST00000295049.4	37	c.256G>A	CCDS2323.1	.	.	.	.	.	.	.	.	.	.	C	13.06	2.125670	0.37533	0.0	1.16E-4	ENSG00000162944	ENST00000295049;ENST00000429081	T;T	0.33438	1.41;1.41	5.41	3.56	0.40772	.	0.671364	0.14854	N	0.294478	T	0.24890	0.0604	L	0.47716	1.5	0.31863	N	0.620733	B	0.22146	0.065	B	0.21151	0.033	T	0.20107	-1.0285	10	0.41790	T	0.15	-1.5859	5.9819	0.19411	0.1537:0.6768:0.0:0.1695	.	86	Q52LD8	RFTN2_HUMAN	M	86	ENSP00000295049:V86M;ENSP00000398128:V86M	ENSP00000295049:V86M	V	-	1	0	RFTN2	198219519	0.000000	0.05858	0.634000	0.29324	0.995000	0.86356	-0.617000	0.05584	0.724000	0.32296	0.585000	0.79938	GTG		0.388	RFTN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256106.2	NM_144629		68	125	0	0	0	1	0	68	125					T	198511274	C	T	198511274	3	4	435	1	0	0	0	0	1	0	0	0	13259	478	17	3	1281	3	RFTN2	2	198511274	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	157441	198511274	44688099	1453	22378											
BOLL	66037	broad.mit.edu	37	chr2	198640396	198640396	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tctcaatacatacgagggatCcctacttgttgttttcttat	9	17	6	9	1	2	0	1	0	2	0	4	2	3	1	1	1	3	2	1	1	5	8			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:198640396C>T	ENST00000392296.4	-	5	654	c.345G>A	c.(343-345)ggG>ggA	p.G115G	BOLL_ENST00000321801.7_Silent_p.G127G|BOLL_ENST00000282278.8_Intron|BOLL_ENST00000430004.1_Silent_p.G115G|BOLL_ENST00000433157.1_Silent_p.G115G	NM_033030.5	NP_149019.1	Q8N9W6	BOLL_HUMAN	boule-like RNA-binding protein	115					cell differentiation (GO:0030154)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|positive regulation of translational initiation (GO:0045948)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)|translation activator activity (GO:0008494)	p.G115G(1)|p.G127G(1)		central_nervous_system(1)|endometrium(2)|lung(6)|ovary(3)|prostate(1)	13						TACGAGGGATCCCTACTTGTT	0.249																																						ENST00000321801.7																			2	Substitution - coding silent(2)	p.G115G(1)|p.G127G(1)	lung(2)	central_nervous_system(1)|endometrium(2)|lung(6)|ovary(3)|prostate(1)	13						c.(379-381)ggG>ggA		boule-like RNA-binding protein							82	88	86					2																	198640396		2201	4282	6483	SO:0001819	synonymous_variant	66037				cell differentiation|meiosis|multicellular organismal development|positive regulation of translational initiation|spermatogenesis	cytoplasm	nucleotide binding|protein binding|RNA binding|translation activator activity	g.chr2:198640396C>T		CCDS2324.1, CCDS2325.1, CCDS63081.1	2q33	2013-10-17	2013-10-17		ENSG00000152430	ENSG00000152430		"RNA binding motif (RRM) containing"	14273	protein-coding gene	gene with protein product		606165	"bol (Drosophila boule homolog)-like", "bol, boule-like (Drosophila)"			11390979, 16001084	Standard	NM_197970		Approved	BOULE	uc002uut.2	Q8N9W6	OTTHUMG00000132747	ENST00000392296.4:c.345G>A	2.37:g.198640396C>T						BOLL_ENST00000433157.1_Silent_p.G115G|BOLL_ENST00000392296.4_Silent_p.G115G|BOLL_ENST00000430004.1_Silent_p.G115G|BOLL_ENST00000282278.8_Intron	p.G127G	NM_197970.2	NP_932074.1	Q8N9W6	BOLL_HUMAN			5	951	-			115					B4DZA4|Q0JW32|Q53T62|Q969U3	Silent	SNP	ENST00000392296.4	37	c.381G>A	CCDS2325.1																																																																																				0.249	BOLL-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256107.3	NM_033030		23	67	0	0	0	1	0	23	67					T	198640396	C	T	198640396	2	4	435	1	0	0	0	0	0	0	0	1	1487	842	30	3		3	BOLL	2	198640396	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	129122	198640396	44558977	1454	22379											
PLCL1	5334	broad.mit.edu	37	chr2	198950184	198950184	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aatctatccaagtgccatgaGgatcgattccagtaacttga	13	11	8	9	1	1	2	0	2	1	0	4	4	3	3	3	1	2	1	3	1	4	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:198950184G>A	ENST00000428675.1	+	2	2341	c.1943G>A	c.(1942-1944)aGg>aAg	p.R648K	PLCL1_ENST00000437704.2_Missense_Mutation_p.R550K	NM_006226.3	NP_006217.3	Q15111	PLCL1_HUMAN	phospholipase C-like 1	648	PI-PLC Y-box. {ECO:0000255|PROSITE- ProRule:PRU00271}.				gamma-aminobutyric acid signaling pathway (GO:0007214)|intracellular signal transduction (GO:0035556)|lipid metabolic process (GO:0006629)|positive regulation of receptor binding (GO:1900122)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of synaptic transmission, GABAergic (GO:0032228)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|inositol 1,4,5 trisphosphate binding (GO:0070679)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	80					Quinacrine(DB01103)	AGTGCCATGAGGATCGATTCC	0.408																																						ENST00000428675.1																			0				autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	80						c.(1942-1944)aGg>aAg		phospholipase C-like 1	Quinacrine(DB01103)						40	43	42					2																	198950184		2203	4299	6502	SO:0001583	missense	5334				intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr2:198950184G>A	D42108	CCDS2326.1, CCDS2326.2	2q33	2014-06-13	2002-02-18	2002-02-22	ENSG00000115896	ENSG00000115896			9063	protein-coding gene	gene with protein product	"phospholipase C related, but catalytically inactive protein", "protein phosphatase 1, regulatory subunit 127"	600597	"phospholipase C, epsilon"	PLCE		7633416	Standard	NM_006226		Approved	PLC-L, PLCL, PRIP, PPP1R127	uc010fsp.3	Q15111	OTTHUMG00000132750	ENST00000428675.1:c.1943G>A	2.37:g.198950184G>A	ENSP00000402861:p.Arg648Lys					PLCL1_ENST00000437704.2_Missense_Mutation_p.R550K	p.R648K	NM_006226.3	NP_006217.3	Q15111	PLCL1_HUMAN			2	2341	+			648			PI-PLC Y-box.		Q3MJ90|Q53SD3|Q7Z3S3	Missense_Mutation	SNP	ENST00000428675.1	37	c.1943G>A	CCDS2326.2	.	.	.	.	.	.	.	.	.	.	G	18.56	3.650725	0.67472	.	.	ENSG00000115896	ENST00000428675;ENST00000437704	D;D	0.82433	-1.61;-1.61	5.36	5.36	0.76844	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);Phospholipase C, phosphatidylinositol-specific, Y domain (3);	0.075672	0.56097	D	0.000030	D	0.92635	0.7660	M	0.90483	3.12	0.80722	D	1	D;D	0.71674	0.998;0.998	D;D	0.67382	0.951;0.951	D	0.93307	0.6681	9	.	.	.	.	19.2914	0.94102	0.0:0.0:1.0:0.0	.	648;574	Q15111;B4DYZ4	PLCL1_HUMAN;.	K	648;550	ENSP00000402861:R648K;ENSP00000414138:R550K	.	R	+	2	0	PLCL1	198658429	1.000000	0.71417	1.000000	0.80357	0.880000	0.50808	9.643000	0.98464	2.793000	0.96121	0.561000	0.74099	AGG		0.408	PLCL1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340210.1	NM_006226		20	22	0	0	0	1	0	20	22					A	198950184	G	A	198950184	3	1	435	1	0	0	0	0	1	0	0	0	12039	1000	35	3	1949	3	PLCL1	2	198950184	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	309788	198950184	44249189	1455	22380											
C2orf47	79568	broad.mit.edu	37	chr2	200828502	200828502	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	taaagcctgactggaccattGcacggattgaacactcaaaa	15	8	8	10	1	1	2	1	2	0	0	1	4	1	4	2	2	3	1	2	2	5	3	rs140885188		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:200828502G>A	ENST00000392290.1	+	5	1040	c.844G>A	c.(844-846)Gca>Aca	p.A282T	C2orf47_ENST00000469156.1_3'UTR|C2orf47_ENST00000295079.2_Missense_Mutation_p.A282T			Q8WWC4	CB047_HUMAN	chromosome 2 open reading frame 47	282						mitochondrion (GO:0005739)		p.A282S(1)		cervix(1)|endometrium(2)|large_intestine(1)|lung(5)	9						CTGGACCATTGCACGGATTGA	0.353																																						ENST00000295079.2																			1	Substitution - Missense(1)	p.A282S(1)	endometrium(1)	cervix(1)|endometrium(2)|large_intestine(1)|lung(5)	9						c.(844-846)Gca>Aca		chromosome 2 open reading frame 47							91	86	88					2																	200828502		2203	4300	6503	SO:0001583	missense	79568					mitochondrion		g.chr2:200828502G>A	BC017959	CCDS2329.1	2q33.1	2011-03-08			ENSG00000162972	ENSG00000162972			26198	protein-coding gene	gene with protein product						12477932	Standard	NM_024520		Approved	DKFZp666A212, FLJ22555	uc002uvm.3	Q8WWC4	OTTHUMG00000132771	ENST00000392290.1:c.844G>A	2.37:g.200828502G>A	ENSP00000376111:p.Ala282Thr					C2orf47_ENST00000469156.1_3'UTR|C2orf47_ENST00000392290.1_Missense_Mutation_p.A282T	p.A282T	NM_024520.2	NP_078796.2	Q8WWC4	CB047_HUMAN			6	1166	+			282					Q658V9|Q9H671	Missense_Mutation	SNP	ENST00000392290.1	37	c.844G>A	CCDS2329.1	.	.	.	.	.	.	.	.	.	.	G	5.774	0.327159	0.10900	.	.	ENSG00000162972	ENST00000295079;ENST00000392290	T;T	0.37058	1.22;1.22	6.05	0.792	0.18625	.	0.245289	0.40469	N	0.001096	T	0.13543	0.0328	N	0.12182	0.205	0.31083	N	0.711744	B	0.16396	0.017	B	0.15484	0.013	T	0.35051	-0.9804	10	0.02654	T	1	-3.3578	5.386	0.16218	0.1966:0.0:0.2452:0.5582	.	282	Q8WWC4	CB047_HUMAN	T	282	ENSP00000295079:A282T;ENSP00000376111:A282T	ENSP00000295079:A282T	A	+	1	0	C2orf47	200536747	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	2.961000	0.49168	0.118000	0.18165	-0.175000	0.13238	GCA		0.353	C2orf47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256146.1	NM_024520		15	25	0	0	0	1	0	15	25					A	200828502	G	A	200828502	3	1	435	1	0	0	0	0	1	0	0	0	2169	1319	46	3	862	3	C2orf47	2	200828502	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	1878318	200828502	42370871	1456	22381											
SPATS2L	26010	broad.mit.edu	37	chr2	201305436	201305436	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtttctctaactagatatcgCgtcatgattaaggaagaagt	13	13	9	6	2	2	3	1	1	1	2	4	4	2	4	0	1	1	1	0	1	6	5	rs372942551		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:201305436C>T	ENST00000358677.5	+	8	964	c.717C>T	c.(715-717)cgC>cgT	p.R239R	SPATS2L_ENST00000451764.2_Silent_p.R239R|SPATS2L_ENST00000409385.1_Silent_p.R179R|SPATS2L_ENST00000360760.5_Silent_p.R170R|SPATS2L_ENST00000409140.3_Silent_p.R239R|SPATS2L_ENST00000409988.3_Silent_p.R239R|SPATS2L_ENST00000409755.3_Silent_p.R269R|SPATS2L_ENST00000409151.1_Silent_p.R247R|SPATS2L_ENST00000409718.1_Silent_p.R239R	NM_001282735.1|NM_001282743.1|NM_001282744.1|NM_015535.2	NP_001269664.1|NP_001269672.1|NP_001269673.1|NP_056350.2	Q9NUQ6	SPS2L_HUMAN	spermatogenesis associated, serine-rich 2-like	239						cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|protein complex (GO:0043234)	poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(1)|lung(4)|ovary(2)|pancreas(1)|prostate(1)	10						CTAGATATCGCGTCATGATTA	0.378																																						ENST00000409988.3																			0				endometrium(1)|kidney(1)|lung(4)|ovary(2)|pancreas(1)|prostate(1)	10						c.(715-717)cgC>cgT		spermatogenesis associated, serine-rich 2-like		C	,,,	1,3833		0,1,1916	96	92	93		717,717,510,717	-12.1	0.3	2		93	1,8253		0,1,4126	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	SPATS2L	NM_001100422.1,NM_001100423.1,NM_001100424.1,NM_015535.2	,,,	0,2,6042	TT,TC,CC		0.0121,0.0261,0.0165	,,,	239/559,239/559,170/490,239/559	201305436	2,12086	1917	4127	6044	SO:0001819	synonymous_variant	26010					cytoplasm|nucleolus		g.chr2:201305436C>T	AF193059	CCDS46483.1, CCDS46484.1, CCDS74621.1, CCDS74622.1	2q33.1	2009-06-12			ENSG00000196141	ENSG00000196141			24574	protein-coding gene	gene with protein product	"DNA polymerase transactivated protein 6"	613817				11230166	Standard	NM_001100422		Approved	DNAPTP6	uc002uvr.4	Q9NUQ6	OTTHUMG00000154589	ENST00000358677.5:c.717C>T	2.37:g.201305436C>T						SPATS2L_ENST00000451764.2_Silent_p.R239R|SPATS2L_ENST00000409151.1_Silent_p.R247R|SPATS2L_ENST00000360760.5_Silent_p.R170R|SPATS2L_ENST00000358677.4_Silent_p.R239R|SPATS2L_ENST00000409140.3_Silent_p.R239R|SPATS2L_ENST00000409385.1_Silent_p.R179R|SPATS2L_ENST00000409755.3_Silent_p.R269R|SPATS2L_ENST00000409718.1_Silent_p.R239R	p.R239R	NM_001100422.1	NP_001093892.1	Q9NUQ6	SPS2L_HUMAN			8	1240	+			239					A8K381|B4DRE6|B4DT67|B7WNZ7|Q53T22|Q8WV53|Q8WYG1|Q9NTW4	Silent	SNP	ENST00000358677.5	37	c.717C>T	CCDS46483.1	.	.	.	.	.	.	.	.	.	.	C	10.33	1.321134	0.23994	2.61E-4	1.21E-4	ENSG00000196141	ENST00000366118	.	.	.	6.03	-12.1	0.00011	.	.	.	.	.	T	0.54935	0.1889	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.67292	-0.5707	4	.	.	.	-11.7757	13.1102	0.59268	0.2199:0.5836:0.0:0.1965	.	.	.	.	V	22	.	.	A	+	2	0	SPATS2L	201013681	0.000000	0.05858	0.329000	0.25429	0.993000	0.82548	-4.308000	0.00255	-1.527000	0.01758	0.655000	0.94253	GCG		0.378	SPATS2L-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336208.3	NM_015535		14	18	0	0	0	1	0	14	18					T	201305436	C	T	201305436	2	4	435	1	0	0	0	0	0	0	0	1	15019	755	27	1		1	SPATS2L	2	201305436	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	476934	201305436	41893937	1457	22382											
KCTD18	130535	broad.mit.edu	37	chr2	201354980	201354980	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctcttcagctttatcaccCgctggggtgtaggcttcttg	4	15	10	12	1	4	0	2	0	2	0	5	0	5	0	2	3	1	4	2	3	2	6			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:201354980C>T	ENST00000359878.3	-	7	1634	c.1124G>A	c.(1123-1125)cGg>cAg	p.R375Q	KCTD18_ENST00000409157.1_Missense_Mutation_p.R375Q|KCTD18_ENST00000468413.1_5'Flank	NM_152387.2	NP_689600.2	Q6PI47	KCD18_HUMAN	potassium channel tetramerization domain containing 18	375					protein homooligomerization (GO:0051260)			p.R375L(1)		endometrium(5)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15						CTTTATCACCCGCTGGGGTGT	0.647																																						ENST00000359878.3																			1	Substitution - Missense(1)	p.R375L(1)	lung(1)	endometrium(5)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15						c.(1123-1125)cGg>cAg		potassium channel tetramerization domain containing 18							82	81	81					2																	201354980		2203	4300	6503	SO:0001583	missense	130535					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr2:201354980C>T	AK055884	CCDS2330.1	2q33.1	2013-06-20	2013-06-20		ENSG00000155729	ENSG00000155729			26446	protein-coding gene	gene with protein product			"potassium channel tetramerisation domain containing 18"				Standard	NM_152387		Approved	FLJ31322, 6530404F10Rik, FLJ37818	uc002uvs.3	Q6PI47	OTTHUMG00000132781	ENST00000359878.3:c.1124G>A	2.37:g.201354980C>T	ENSP00000352941:p.Arg375Gln					KCTD18_ENST00000409157.1_Missense_Mutation_p.R375Q	p.R375Q	NM_152387.2	NP_689600.2	Q6PI47	KCD18_HUMAN			7	1634	-			375					Q53T21|Q6NW26|Q6PCD8|Q8N9B7|Q96N73	Missense_Mutation	SNP	ENST00000359878.3	37	c.1124G>A	CCDS2330.1	.	.	.	.	.	.	.	.	.	.	C	27.3	4.821269	0.90873	.	.	ENSG00000155729	ENST00000359878;ENST00000409157	T;T	0.41758	0.99;0.99	4.88	4.88	0.63580	.	0.000000	0.49916	D	0.000139	T	0.54319	0.1851	L	0.32530	0.975	0.37150	D	0.902106	D	0.89917	1.0	D	0.85130	0.997	T	0.62798	-0.6778	10	0.87932	D	0	-11.2607	15.981	0.80111	0.0:1.0:0.0:0.0	.	375	Q6PI47	KCD18_HUMAN	Q	375	ENSP00000352941:R375Q;ENSP00000386751:R375Q	ENSP00000352941:R375Q	R	-	2	0	KCTD18	201063225	0.026000	0.19158	0.216000	0.23742	0.021000	0.10359	1.849000	0.39318	2.531000	0.85337	0.655000	0.94253	CGG		0.647	KCTD18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256188.1	NM_152387		21	25	0	0	0	1	0	21	25					T	201354980	C	T	201354980	3	4	435	1	0	0	0	0	1	0	0	0	8105	652	23	2	160	2	KCTD18	2	201354980	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	49544	201354980	41844393	1458	22383											
KCTD18	130535	broad.mit.edu	37	chr2	201369584	201369584	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcagcctcttcctgtagggCgatgcgggtttgctcatctg	5	13	12	11	2	4	0	2	0	2	0	5	1	5	0	2	2	3	3	2	2	1	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:201369584C>T	ENST00000359878.3	-	3	769	c.259G>A	c.(259-261)Gcc>Acc	p.A87T	KCTD18_ENST00000409157.1_Missense_Mutation_p.A87T|KCTD18_ENST00000468413.1_5'UTR	NM_152387.2	NP_689600.2	Q6PI47	KCD18_HUMAN	potassium channel tetramerization domain containing 18	87					protein homooligomerization (GO:0051260)			p.A87T(1)		endometrium(5)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15						TCCTGTAGGGCGATGCGGGTT	0.433																																						ENST00000359878.3																			1	Substitution - Missense(1)	p.A87T(1)	large_intestine(1)	endometrium(5)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15						c.(259-261)Gcc>Acc		potassium channel tetramerization domain containing 18							117	97	103					2																	201369584		2203	4300	6503	SO:0001583	missense	130535					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr2:201369584C>T	AK055884	CCDS2330.1	2q33.1	2013-06-20	2013-06-20		ENSG00000155729	ENSG00000155729			26446	protein-coding gene	gene with protein product			"potassium channel tetramerisation domain containing 18"				Standard	NM_152387		Approved	FLJ31322, 6530404F10Rik, FLJ37818	uc002uvs.3	Q6PI47	OTTHUMG00000132781	ENST00000359878.3:c.259G>A	2.37:g.201369584C>T	ENSP00000352941:p.Ala87Thr					KCTD18_ENST00000468413.1_5'UTR|KCTD18_ENST00000409157.1_Missense_Mutation_p.A87T	p.A87T	NM_152387.2	NP_689600.2	Q6PI47	KCD18_HUMAN			3	769	-			87					Q53T21|Q6NW26|Q6PCD8|Q8N9B7|Q96N73	Missense_Mutation	SNP	ENST00000359878.3	37	c.259G>A	CCDS2330.1	.	.	.	.	.	.	.	.	.	.	C	28.5	4.929486	0.92389	.	.	ENSG00000155729	ENST00000359878;ENST00000409157	T;T	0.76839	-1.05;-1.05	5.65	5.65	0.86999	BTB/POZ-like (1);BTB/POZ fold (2);Potassium channel, voltage dependent, Kv, tetramerisation (1);	0.000000	0.64402	D	0.000003	D	0.84520	0.5490	L	0.39397	1.21	0.46564	D	0.999104	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	D	0.83560	0.0106	10	0.49607	T	0.09	-18.8688	19.5069	0.95121	0.0:1.0:0.0:0.0	.	87;87	Q6PI47-2;Q6PI47	.;KCD18_HUMAN	T	87	ENSP00000352941:A87T;ENSP00000386751:A87T	ENSP00000352941:A87T	A	-	1	0	KCTD18	201077829	1.000000	0.71417	0.974000	0.42286	0.758000	0.43043	5.790000	0.69038	2.941000	0.99782	0.655000	0.94253	GCC		0.433	KCTD18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256188.1	NM_152387		27	29	0	0	0	1	0	27	29					T	201369584	C	T	201369584	3	4	435	1	0	0	0	0	1	0	0	0	8105	768	27	1	1041	1	KCTD18	2	201369584	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	14604	201369584	41829789	1459	22384											
BZW1	9689	broad.mit.edu	37	chr2	201683504	201683505	+	Frame_Shift_Ins	INS	-	-	A																															tatatgtcaaggaggagatgINSaaaaaaaacaacatcccaga																										TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:201683504_201683505insA	ENST00000409600.1	+	9	1301_1302	c.846_847insA	c.(847-849)aaafs	p.K283fs	BZW1_ENST00000409226.1_Frame_Shift_Ins_p.K287fs|BZW1_ENST00000452790.2_Frame_Shift_Ins_p.K315fs	NM_001207067.1|NM_014670.3	NP_001193996.1|NP_055485.2	Q7L1Q6	BZW1_HUMAN	basic leucine zipper and W2 domains 1	283	W2. {ECO:0000255|PROSITE- ProRule:PRU00695}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)			breast(1)|kidney(2)|large_intestine(1)|lung(2)	6						AGGAGGAGATGAAAAAAAACAA	0.371																																						ENST00000409600.1																			0				breast(1)|kidney(2)|large_intestine(1)|lung(2)	6						c.(844-849)ataaaafs		basic leucine zipper and W2 domains 1			,,,	2,3514		0,2,1756					,,,	5.6	1			76	2,7816		0,2,3907	no	frameshift,frameshift,frameshift,frameshift	BZW1	NM_014670.3,NM_001207069.1,NM_001207068.1,NM_001207067.1	,,,	0,4,5663	A1A1,A1R,RR		0.0256,0.0569,0.0353	,,,	,,,		4,11330				SO:0001589	frameshift_variant	9689				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm	protein binding	g.chr2:201683504_201683505insA	D13630	CCDS56154.1, CCDS56155.1, CCDS56156.1	2q33	2010-04-09			ENSG00000082153	ENSG00000082153			18380	protein-coding gene	gene with protein product						10964520, 11524015	Standard	NM_001207067		Approved	BZAP45, KIAA0005	uc021vus.1	Q7L1Q6	OTTHUMG00000154560	ENST00000409600.1:c.854dupA	2.37:g.201683512_201683512dupA	ENSP00000386474:p.Lys283fs					BZW1_ENST00000452790.2_Frame_Shift_Ins_p.IK314fs|BZW1_ENST00000409226.1_Frame_Shift_Ins_p.IK286fs	p.IK282fs	NM_001207067.1|NM_014670.3	NP_001193996.1|NP_055485.2	Q7L1Q6	BZW1_HUMAN			9	1301_1302	+			282			W2.		B4DLZ8|B4DWF7|Q14281|Q15394|Q9BUY0	Frame_Shift_Ins	INS	ENST00000409600.1	37	c.846_847insA	CCDS56156.1																																																																																				0.371	BZW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335975.1	NM_014670		15	28						15	28	---	---	---	---	A	201683505	-	A	201683504	7	5	435	1	0	1	1	0	0	0	0	0	1578	1290	45	0	876	0	BZW1	2	201683504	Frame_Shift_Ins	INS	-	TCGA-XK-AAIW-01A-11D-A41K-08	313920	201683504	41515869	1460	22385											
CFLAR	8837	broad.mit.edu	37	chr2	202025497	202025497	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cttggaggtggatgggccagCgatgaagaatgtggaattca	11	9	16	5	1	1	2	1	1	0	1	1	6	1	5	1	5	1	0	1	5	3	2	rs552260635		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:202025497C>T	ENST00000309955.3	+	9	1651	c.1136C>T	c.(1135-1137)gCg>gTg	p.A379V	CFLAR-AS1_ENST00000415011.2_RNA|CFLAR_ENST00000457277.1_Missense_Mutation_p.A379V|CFLAR_ENST00000341582.6_Missense_Mutation_p.A344V|CFLAR_ENST00000340870.5_Missense_Mutation_p.A379V|CFLAR_ENST00000443227.1_Missense_Mutation_p.A283V|CFLAR_ENST00000355558.4_Intron|CFLAR_ENST00000479953.2_Missense_Mutation_p.A283V|CFLAR_ENST00000423241.2_Missense_Mutation_p.A379V	NM_001202515.1|NM_003879.5	NP_001189444.1|NP_003870.4	O15519	CFLAR_HUMAN	CASP8 and FADD-like apoptosis regulator	379	Interaction with TRAF1 and TRAF2.|Interaction with caspase-3.|Interaction with caspase-8 subunits p18 and p10.|Interaction with caspase-8.|Not proteolytically processed and involved in apoptosis inhibition.				apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of myoblast fusion (GO:1901740)|positive regulation of catalytic activity (GO:0043085)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|regulation of necroptotic process (GO:0060544)|regulation of satellite cell proliferation (GO:0014842)|skeletal muscle atrophy (GO:0014732)|skeletal muscle tissue development (GO:0007519)|skeletal muscle tissue regeneration (GO:0043403)|skeletal myofibril assembly (GO:0014866)|viral process (GO:0016032)	CD95 death-inducing signaling complex (GO:0031265)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|death-inducing signaling complex (GO:0031264)|ripoptosome (GO:0097342)	cysteine-type peptidase activity (GO:0008234)|death effector domain binding (GO:0035877)|enzyme activator activity (GO:0008047)|protease binding (GO:0002020)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|stomach(1)	13						GATGGGCCAGCGATGAAGAAT	0.527													C|||	1	0.000199681	0	0	5008	,	,		22537	0.001		0	False		,,,				2504	0				Pancreas(16;548 657 22190 32864 42338)	ENST00000309955.2																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|stomach(1)	13						c.(1135-1137)gCg>gTg		CASP8 and FADD-like apoptosis regulator							46	48	48					2																	202025497		2203	4300	6503	SO:0001583	missense	8837				anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|interspecies interaction between organisms|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis		cysteine-type endopeptidase activity|protein binding	g.chr2:202025497C>T	AF005774	CCDS2337.1, CCDS46487.1, CCDS56157.1, CCDS56158.1, CCDS59436.1	2q33-q34	2014-01-30			ENSG00000003402	ENSG00000003402		"Endogenous ligands"	1876	protein-coding gene	gene with protein product		603599		CASP8AP1		9208847, 9217161	Standard	NM_003879		Approved	CASH, Casper, CLARP, FLAME, FLIP, I-FLICE, MRIT, c-FLIP	uc002uxb.4	O15519	OTTHUMG00000132819	ENST00000309955.3:c.1136C>T	2.37:g.202025497C>T	ENSP00000312455:p.Ala379Val					CFLAR_ENST00000341582.6_Missense_Mutation_p.A344V|CFLAR_ENST00000457277.1_Missense_Mutation_p.A379V|CFLAR_ENST00000340870.5_Missense_Mutation_p.A379V|CFLAR_ENST00000355558.4_Intron|CFLAR_ENST00000423241.2_Missense_Mutation_p.A379V|CFLAR_ENST00000479953.2_Missense_Mutation_p.A283V|CFLAR_ENST00000443227.1_Missense_Mutation_p.A283V	p.A379V	NM_003879.5	NP_003870.4	O15519	CFLAR_HUMAN			9	1651	+			379			Interaction with TRAF1 and TRAF2.|Interaction with caspase-3.|Interaction with caspase-8 subunits p18 and p10.|Interaction with caspase-8.|Not proteolytically processed and involved in apoptosis inhibition.		B4DJE0|B7Z9F9|O14673|O14674|O14675|O15137|O15138|O15356|O15510|O43618|O43619|O43620|O60458|O60459|Q53TS6|Q54AF1|Q96TE4|Q9UEW1	Missense_Mutation	SNP	ENST00000309955.3	37	c.1136C>T	CCDS2337.1	.	.	.	.	.	.	.	.	.	.	C	13.55	2.270195	0.40194	.	.	ENSG00000003402	ENST00000309955;ENST00000443227;ENST00000340870;ENST00000343375;ENST00000341582;ENST00000423241;ENST00000457277	T;T;T;T;T;T	0.20881	2.04;2.04;2.04;2.04;2.04;2.04	5.72	1.86	0.25419	Peptidase C14, caspase catalytic (1);Peptidase C14, caspase precursor p45, core (1);	0.876630	0.10107	N	0.715146	T	0.11537	0.0281	N	0.20685	0.6	0.09310	N	1	B;B;B;B	0.23442	0.084;0.069;0.069;0.085	B;B;B;B	0.22386	0.039;0.017;0.01;0.028	T	0.35301	-0.9794	10	0.28530	T	0.3	-0.7259	3.3665	0.07206	0.2193:0.5197:0.1248:0.1362	.	283;379;344;379	O15519-3;O15519-11;O15519-8;O15519	.;.;.;CFLAR_HUMAN	V	379;283;379;265;344;379;379	ENSP00000312455:A379V;ENSP00000413270:A283V;ENSP00000339326:A379V;ENSP00000345807:A344V;ENSP00000399420:A379V;ENSP00000411535:A379V	ENSP00000312455:A379V	A	+	2	0	CFLAR	201733742	0.000000	0.05858	0.002000	0.10522	0.292000	0.27327	-0.100000	0.10990	0.339000	0.23719	0.555000	0.69702	GCG		0.527	CFLAR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256276.3	NM_003879		15	17	0	0	0	1	0	15	17					T	202025497	C	T	202025497	3	4	435	1	0	0	0	0	1	0	0	0	3292	768	27	1	1230	1	CFLAR	2	202025497	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	341993	202025497	41173876	1461	22386											
CASP10	843	broad.mit.edu	37	chr2	202074091	202074091	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgccaaggtgaagagatacaGccttccgtatccatcgaagc	12	8	10	11	2	0	2	0	1	0	1	3	4	2	2	4	1	4	1	4	1	5	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:202074091G>T	ENST00000272879.5	+	9	1405	c.1221G>T	c.(1219-1221)caG>caT	p.Q407H	CASP10_ENST00000492363.1_3'UTR|CASP10_ENST00000286186.6_Missense_Mutation_p.Q407H|CASP10_ENST00000313728.7_Missense_Mutation_p.Q340H|CASP10_ENST00000346817.5_Missense_Mutation_p.Q364H|CASP10_ENST00000360132.3_3'UTR|CASP10_ENST00000448480.1_Missense_Mutation_p.Q364H	NM_032974.4	NP_116756.2	Q92851	CASPA_HUMAN	caspase 10, apoptosis-related cysteine peptidase	407					apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|innate immune response (GO:0045087)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|regulation of apoptotic process (GO:0042981)	CD95 death-inducing signaling complex (GO:0031265)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)|ripoptosome (GO:0097342)	cysteine-type endopeptidase activity (GO:0004197)|cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:0097199)|death effector domain binding (GO:0035877)|ubiquitin protein ligase binding (GO:0031625)			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	27						AAGAGATACAGCCTTCCGTAT	0.532																																						ENST00000286186.6																			0				breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	27						c.(1219-1221)caG>caT		caspase 10, apoptosis-related cysteine peptidase							83	75	78					2																	202074091		2203	4300	6503	SO:0001583	missense	843				apoptosis|induction of apoptosis by extracellular signals|proteolysis	cytosol|plasma membrane	cysteine-type endopeptidase activity|identical protein binding|protein binding	g.chr2:202074091G>T	U60519	CCDS2338.1, CCDS2339.1, CCDS2340.1, CCDS56159.1, CCDS56160.1	2q33-q34	2014-09-17	2005-08-17		ENSG00000003400	ENSG00000003400	3.4.22.63	"Caspases"	1500	protein-coding gene	gene with protein product		601762	"caspase 10, apoptosis-related cysteine protease"			8755496	Standard	NM_032974		Approved	MCH4	uc002uxj.1	Q92851	OTTHUMG00000132818	ENST00000272879.5:c.1221G>T	2.37:g.202074091G>T	ENSP00000272879:p.Gln407His					CASP10_ENST00000492363.1_3'UTR|CASP10_ENST00000313728.7_Missense_Mutation_p.Q340H|CASP10_ENST00000360132.3_3'UTR|CASP10_ENST00000272879.5_Missense_Mutation_p.Q407H|CASP10_ENST00000346817.5_Missense_Mutation_p.Q364H|CASP10_ENST00000448480.1_Missense_Mutation_p.Q364H	p.Q407H	NM_032977.3	NP_116759.2	Q92851	CASPA_HUMAN			9	1656	+			407					Q68HC0|Q6KF62|Q6KF63|Q8IUP5|Q8WYQ8|Q99845|Q9Y2U6|Q9Y2U7	Missense_Mutation	SNP	ENST00000272879.5	37	c.1221G>T	CCDS2338.1	.	.	.	.	.	.	.	.	.	.	G	11.52	1.664267	0.29604	.	.	ENSG00000003400	ENST00000286186;ENST00000272879;ENST00000346817;ENST00000313728;ENST00000448480	T;T;T;T;T	0.80738	-1.41;4.02;-1.41;-1.41;4.02	4.66	-3.7	0.04437	Peptidase C14, caspase catalytic (1);Peptidase C14, caspase precursor p45, core (1);	0.564281	0.19204	N	0.120114	T	0.80476	0.4630	M	0.66439	2.03	0.80722	D	1	P;P;D;P;P	0.57571	0.707;0.886;0.98;0.905;0.735	P;P;P;P;P	0.57620	0.464;0.59;0.824;0.548;0.73	T	0.75991	-0.3122	10	0.45353	T	0.12	.	5.2187	0.15356	0.2744:0.1153:0.4971:0.1132	.	340;364;407;364;407	Q92851-6;Q92851-5;Q92851;Q92851-2;Q92851-4	.;.;CASPA_HUMAN;.;.	H	407;407;364;340;364	ENSP00000286186:Q407H;ENSP00000272879:Q407H;ENSP00000237865:Q364H;ENSP00000314599:Q340H;ENSP00000396835:Q364H	ENSP00000272879:Q407H	Q	+	3	2	CASP10	201782336	0.008000	0.16893	0.004000	0.12327	0.005000	0.04900	-0.188000	0.09642	-0.786000	0.04516	-0.806000	0.03193	CAG		0.532	CASP10-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256273.1	NM_032977		25	39	1	0	1.85244e-09	1	1.96811e-09	25	39					T	202074091	G	T	202074091	3	4	435	1	0	0	0	0	1	0	0	0	2669	962	34	5	1251	5	CASP10	2	202074091	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	48594	202074091	41125282	1462	22387											
CASP8	841	broad.mit.edu	37	chr2	202141679	202141679	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttagggacaggaatggaacaCacttggatgcaggtacagta	14	8	13	6	0	0	0	0	0	0	0	0	4	0	4	0	5	3	3	0	5	5	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:202141679C>T	ENST00000432109.2	+	8	979	c.790C>T	c.(790-792)Cac>Tac	p.H264Y	CASP8_ENST00000392266.3_3'UTR|CASP8_ENST00000358485.4_Missense_Mutation_p.H323Y|CASP8_ENST00000264275.5_Missense_Mutation_p.H281Y|CASP8_ENST00000392258.3_3'UTR|CASP8_ENST00000392259.2_3'UTR|CASP8_ENST00000323492.7_Missense_Mutation_p.H249Y|CASP8_ENST00000264274.9_Intron	NM_033355.3	NP_203519.1	Q14790	CASP8_HUMAN	caspase 8, apoptosis-related cysteine peptidase	264					activation of cysteine-type endopeptidase activity (GO:0097202)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|B cell activation (GO:0042113)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to mechanical stimulus (GO:0071260)|cellular response to organic cyclic compound (GO:0071407)|execution phase of apoptosis (GO:0097194)|extrinsic apoptotic signaling pathway (GO:0097191)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|heart development (GO:0007507)|hepatocyte apoptotic process (GO:0097284)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway (GO:0097193)|macrophage differentiation (GO:0030225)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|natural killer cell activation (GO:0030101)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of necroptotic process (GO:0060546)|neural tube formation (GO:0001841)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of proteolysis (GO:0045862)|protein heterooligomerization (GO:0051291)|proteolysis (GO:0006508)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|regulation of thymocyte apoptotic process (GO:0070243)|response to antibiotic (GO:0046677)|response to cobalt ion (GO:0032025)|response to cold (GO:0009409)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to lipopolysaccharide (GO:0032496)|response to tumor necrosis factor (GO:0034612)|syncytiotrophoblast cell differentiation involved in labyrinthine layer development (GO:0060715)|T cell activation (GO:0042110)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRAIL-activated apoptotic signaling pathway (GO:0036462)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral process (GO:0016032)	CD95 death-inducing signaling complex (GO:0031265)|cell body (GO:0044297)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|death-inducing signaling complex (GO:0031264)|membrane raft (GO:0045121)|microtubule organizing center (GO:0005815)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|Noc1p-Noc2p complex (GO:0030690)|nucleus (GO:0005634)|ripoptosome (GO:0097342)	cysteine-type endopeptidase activity (GO:0004197)|cysteine-type endopeptidase activity involved in apoptotic process (GO:0097153)|cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:0097199)|cysteine-type peptidase activity (GO:0008234)|death effector domain binding (GO:0035877)|peptidase activity (GO:0008233)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)			breast(5)|cervix(2)|endometrium(6)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(9)|urinary_tract(3)	52						GAATGGAACACACTTGGATGC	0.383										HNSCC(4;0.00038)																											Melanoma(82;831 1348 20716 36952 40159)	ENST00000358485.4																			0				breast(5)|cervix(2)|endometrium(6)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(9)|urinary_tract(3)	52						c.(967-969)Cac>Tac		caspase 8, apoptosis-related cysteine peptidase							77	69	72					2																	202141679		2203	4300	6503	SO:0001583	missense	841				activation of caspase activity|activation of pro-apoptotic gene products|cellular component disassembly involved in apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis involved in cellular protein catabolic process|response to tumor necrosis factor	centrosome|cytosol|mitochondrial outer membrane	cysteine-type endopeptidase activity|protein binding	g.chr2:202141679C>T	U60520	CCDS2342.1, CCDS2343.1, CCDS2345.1, CCDS42798.1, CCDS42799.1	2q33-q34	2014-09-17	2005-08-17		ENSG00000064012	ENSG00000064012		"Caspases"	1509	protein-coding gene	gene with protein product		601763	"caspase 8, apoptosis-related cysteine protease"			8681376, 8681377	Standard	NM_033355		Approved	MCH5, MACH, FLICE, Casp-8	uc002uxt.1	Q14790	OTTHUMG00000132821	ENST00000432109.2:c.790C>T	2.37:g.202141679C>T	ENSP00000412523:p.His264Tyr	HNSCC(4;0.00038)				CASP8_ENST00000323492.7_Missense_Mutation_p.H249Y|CASP8_ENST00000392259.2_3'UTR|CASP8_ENST00000392266.3_3'UTR|CASP8_ENST00000264275.5_Missense_Mutation_p.H281Y|CASP8_ENST00000392258.3_3'UTR|CASP8_ENST00000264274.9_Intron|CASP8_ENST00000432109.2_Missense_Mutation_p.H264Y	p.H323Y	NM_001080125.1	NP_001073594.1	Q14790	CASP8_HUMAN			7	1163	+			264					O14676|Q14791|Q14792|Q14793|Q14794|Q14795|Q14796|Q15780|Q15806|Q53TT5|Q8TDI1|Q8TDI2|Q8TDI3|Q8TDI4|Q8TDI5|Q96T22|Q9C0K4|Q9UQ81	Missense_Mutation	SNP	ENST00000432109.2	37	c.967C>T	CCDS2342.1	.	.	.	.	.	.	.	.	.	.	C	12.71	2.018992	0.35606	.	.	ENSG00000064012	ENST00000392263;ENST00000432109;ENST00000264275;ENST00000450491;ENST00000358485;ENST00000392261;ENST00000323492	T;T;T;T;T;T	0.80304	-1.36;-1.36;-1.36;0.94;-1.36;-1.36	5.49	-4.0	0.04057	Peptidase C14, caspase catalytic (1);Peptidase C14, caspase precursor p45, core (1);Peptidase C14, ICE, catalytic subunit p20 (1);	0.989296	0.08262	N	0.972829	T	0.65729	0.2719	L	0.31476	0.935	0.28809	N	0.898353	P;P;P;B;B;P	0.50443	0.935;0.793;0.642;0.312;0.006;0.642	B;B;B;B;B;B	0.43508	0.422;0.171;0.28;0.088;0.021;0.372	T	0.59984	-0.7351	10	0.15066	T	0.55	.	7.3772	0.26835	0.3851:0.3071:0.3077:0.0	.	264;249;323;264;249;281	Q14790-7;A8MU92;Q14790-9;Q14790;Q14790-2;Q14790-4	.;.;.;CASP8_HUMAN;.;.	Y	249;264;281;146;323;249;249	ENSP00000376091:H249Y;ENSP00000412523:H264Y;ENSP00000264275:H281Y;ENSP00000391709:H146Y;ENSP00000351273:H323Y;ENSP00000325722:H249Y	ENSP00000264275:H281Y	H	+	1	0	CASP8	201849924	0.000000	0.05858	0.002000	0.10522	0.070000	0.16714	-1.369000	0.02578	-0.909000	0.03852	0.561000	0.74099	CAC		0.383	CASP8-014	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000336853.2	NM_001228		12	20	0	0	0	1	0	12	20					T	202141679	C	T	202141679	3	4	435	1	0	0	0	0	1	0	0	0	2677	478	17	3	1093	3	CASP8	2	202141679	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	67588	202141679	41057694	1463	22388											
TRAK2	66008	broad.mit.edu	37	chr2	202259538	202259538	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tacctccattgtcagttgccGttgggcatctttggaagctt	6	15	10	10	1	2	0	1	0	1	0	3	1	3	1	3	2	3	4	3	2	2	6	rs145122223		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:202259538G>A	ENST00000332624.3	-	9	1386	c.958C>T	c.(958-960)Cgg>Tgg	p.R320W		NM_015049.2	NP_055864.2	O60296	TRAK2_HUMAN	trafficking protein, kinesin binding 2	320	HAP1 N-terminal.				protein O-linked glycosylation (GO:0006493)|protein targeting (GO:0006605)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	cytoplasm (GO:0005737)|endosome (GO:0005768)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GABA receptor binding (GO:0050811)|receptor binding (GO:0005102)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(12)|ovary(1)|skin(1)	23						GTCAGTTGCCGTTGGGCATCT	0.358																																						ENST00000332624.3																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(12)|ovary(1)|skin(1)	23						c.(958-960)Cgg>Tgg		trafficking protein, kinesin binding 2		G	TRP/ARG	0,4406		0,0,2203	115	103	107		958	3.4	1	2	dbSNP_134	107	1,8599	1.2+/-3.3	0,1,4299	no	missense	TRAK2	NM_015049.2	101	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	320/915	202259538	1,13005	2203	4300	6503	SO:0001583	missense	66008					early endosome|plasma membrane	GABA receptor binding	g.chr2:202259538G>A	AB038951	CCDS2347.1	2q33.1	2012-03-05	2005-12-13	2005-12-13	ENSG00000115993	ENSG00000115993			13206	protein-coding gene	gene with protein product	"gamma-aminobutyric acid(A) receptor-interacting factor", "milton homolog 2 (Drosophila)", "O-linked N-acetylglucosamine transferase interacting protein 98"	607334	"amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 3"	ALS2CR3		11161814, 16380713, 20230862	Standard	NM_015049		Approved	CALS-C, KIAA0549, GRIF-1, OIP98, MILT2	uc002uyb.4	O60296	OTTHUMG00000132822	ENST00000332624.3:c.958C>T	2.37:g.202259538G>A	ENSP00000328875:p.Arg320Trp						p.R320W	NM_015049.2	NP_055864.2	O60296	TRAK2_HUMAN			9	1386	-			320	Missing (in Ref. 2).				E7EV21|Q8WVH7|Q96NS2|Q9C0K5|Q9C0K6	Missense_Mutation	SNP	ENST00000332624.3	37	c.958C>T	CCDS2347.1	.	.	.	.	.	.	.	.	.	.	G	17.24	3.340496	0.60963	0.0	1.16E-4	ENSG00000115993	ENST00000332624;ENST00000542292	T	0.20200	2.09	5.51	3.4	0.38934	.	0.000000	0.85682	D	0.000000	T	0.43523	0.1251	M	0.66939	2.045	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.35276	-0.9795	10	0.87932	D	0	.	13.1605	0.59542	0.0:0.0:0.2028:0.7972	.	320	O60296	TRAK2_HUMAN	W	320;226	ENSP00000328875:R320W	ENSP00000328875:R320W	R	-	1	2	TRAK2	201967783	1.000000	0.71417	0.957000	0.39632	0.768000	0.43524	2.120000	0.41968	0.536000	0.28733	-0.270000	0.10280	CGG		0.358	TRAK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256284.3	NM_015049		5	41	0	0	0	1	0	5	41					A	202259538	G	A	202259538	3	1	435	1	0	0	0	0	1	0	0	0	16447	1144	40	1	1818	1	TRAK2	2	202259538	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	117859	202259538	40939835	1464	22389											
ALS2	57679	broad.mit.edu	37	chr2	202574743	202574743	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cacaagcctgcccagggggtGcagaggagtgtcacaggcct	9	5	15	12	0	1	1	1	0	0	1	1	2	1	2	3	4	3	1	3	4	1	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:202574743G>A	ENST00000264276.6	-	27	4513	c.4141C>T	c.(4141-4143)Cac>Tac	p.H1381Y	ALS2_ENST00000457679.2_3'UTR	NM_020919.3	NP_065970.2	Q96Q42	ALS2_HUMAN	amyotrophic lateral sclerosis 2 (juvenile)	1381					behavioral fear response (GO:0001662)|cell death (GO:0008219)|endosomal transport (GO:0016197)|endosome organization (GO:0007032)|locomotory behavior (GO:0007626)|neuromuscular junction development (GO:0007528)|neuron projection morphogenesis (GO:0048812)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of Rab GTPase activity (GO:0032851)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rac protein signal transduction (GO:0035022)|positive regulation of Ran GTPase activity (GO:0032853)|protein localization (GO:0008104)|receptor recycling (GO:0001881)|regulation of endosome size (GO:0051036)|response to oxidative stress (GO:0006979)|synaptic transmission, glutamatergic (GO:0035249)|vesicle organization (GO:0016050)	centrosome (GO:0005813)|cytosol (GO:0005829)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|early endosome (GO:0005769)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|postsynaptic density (GO:0014069)|protein complex (GO:0043234)|ruffle (GO:0001726)|vesicle (GO:0031982)	protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activator activity (GO:0043539)|Rab GTPase binding (GO:0017137)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|Ran guanyl-nucleotide exchange factor activity (GO:0005087)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(22)|ovary(1)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	72						CCCAGGGGGTGCAGAGGAGTG	0.473																																						ENST00000264276.6																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(22)|ovary(1)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	72						c.(4141-4143)Cac>Tac		amyotrophic lateral sclerosis 2 (juvenile)							46	48	47					2																	202574743		1920	4128	6048	SO:0001583	missense	57679				cell death|endosome organization|positive regulation of Rac GTPase activity|regulation of endosome size	centrosome|cytosol|early endosome|growth cone|lamellipodium|protein complex|ruffle	protein homodimerization activity|protein serine/threonine kinase activator activity|Rab GTPase binding|Rab guanyl-nucleotide exchange factor activity|Rac guanyl-nucleotide exchange factor activity|Ran guanyl-nucleotide exchange factor activity	g.chr2:202574743G>A	AB053305	CCDS42800.1, CCDS46492.1	2q33-q35	2014-09-17	2004-06-23		ENSG00000003393	ENSG00000003393		"Rho guanine nucleotide exchange factors"	443	protein-coding gene	gene with protein product	"alsin"	606352	"amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 6"	ALS2CR6		11586298	Standard	NM_020919		Approved		uc002uyo.3	Q96Q42	OTTHUMG00000154507	ENST00000264276.6:c.4141C>T	2.37:g.202574743G>A	ENSP00000264276:p.His1381Tyr					ALS2_ENST00000457679.2_3'UTR	p.H1381Y	NM_020919.3	NP_065970.2	Q96Q42	ALS2_HUMAN			27	4513	-			1381					Q53TT1|Q53TV2|Q8N1E0|Q96PC4|Q96Q41|Q9H973|Q9HCK9	Missense_Mutation	SNP	ENST00000264276.6	37	c.4141C>T	CCDS42800.1	.	.	.	.	.	.	.	.	.	.	G	29.6	5.021712	0.93462	.	.	ENSG00000003393	ENST00000264276	T	0.30981	1.51	5.67	5.67	0.87782	.	0.048747	0.85682	D	0.000000	T	0.61311	0.2337	M	0.82056	2.57	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.64694	-0.6347	10	0.87932	D	0	.	19.7699	0.96359	0.0:0.0:1.0:0.0	.	1381	Q96Q42	ALS2_HUMAN	Y	1381	ENSP00000264276:H1381Y	ENSP00000264276:H1381Y	H	-	1	0	ALS2	202282988	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.673000	0.98631	2.680000	0.91292	0.563000	0.77884	CAC		0.473	ALS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335562.3	NM_020919		7	19	0	0	0	1	0	7	19					A	202574743	G	A	202574743	3	1	435	1	0	0	0	0	1	0	0	0	550	1319	46	3	864	3	ALS2	2	202574743	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	315205	202574743	40624630	1465	22390											
ALS2	57679	broad.mit.edu	37	chr2	202625667	202625667	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	actgaatgatctgacagtttCcgtaggtattcattgactgc	10	14	9	8	1	2	4	1	4	1	0	3	4	3	4	1	1	1	3	1	1	3	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:202625667C>T	ENST00000264276.6	-	4	1422	c.1050G>A	c.(1048-1050)cgG>cgA	p.R350R	ALS2_ENST00000467448.1_Silent_p.R350R|ALS2_ENST00000496244.1_5'Flank	NM_020919.3	NP_065970.2	Q96Q42	ALS2_HUMAN	amyotrophic lateral sclerosis 2 (juvenile)	350					behavioral fear response (GO:0001662)|cell death (GO:0008219)|endosomal transport (GO:0016197)|endosome organization (GO:0007032)|locomotory behavior (GO:0007626)|neuromuscular junction development (GO:0007528)|neuron projection morphogenesis (GO:0048812)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of Rab GTPase activity (GO:0032851)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rac protein signal transduction (GO:0035022)|positive regulation of Ran GTPase activity (GO:0032853)|protein localization (GO:0008104)|receptor recycling (GO:0001881)|regulation of endosome size (GO:0051036)|response to oxidative stress (GO:0006979)|synaptic transmission, glutamatergic (GO:0035249)|vesicle organization (GO:0016050)	centrosome (GO:0005813)|cytosol (GO:0005829)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|early endosome (GO:0005769)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|postsynaptic density (GO:0014069)|protein complex (GO:0043234)|ruffle (GO:0001726)|vesicle (GO:0031982)	protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activator activity (GO:0043539)|Rab GTPase binding (GO:0017137)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|Ran guanyl-nucleotide exchange factor activity (GO:0005087)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(22)|ovary(1)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	72						CTGACAGTTTCCGTAGGTATT	0.423																																						ENST00000264276.6																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(22)|ovary(1)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	72						c.(1048-1050)cgG>cgA		amyotrophic lateral sclerosis 2 (juvenile)							141	133	135					2																	202625667		1986	4178	6164	SO:0001819	synonymous_variant	57679				cell death|endosome organization|positive regulation of Rac GTPase activity|regulation of endosome size	centrosome|cytosol|early endosome|growth cone|lamellipodium|protein complex|ruffle	protein homodimerization activity|protein serine/threonine kinase activator activity|Rab GTPase binding|Rab guanyl-nucleotide exchange factor activity|Rac guanyl-nucleotide exchange factor activity|Ran guanyl-nucleotide exchange factor activity	g.chr2:202625667C>T	AB053305	CCDS42800.1, CCDS46492.1	2q33-q35	2014-09-17	2004-06-23		ENSG00000003393	ENSG00000003393		"Rho guanine nucleotide exchange factors"	443	protein-coding gene	gene with protein product	"alsin"	606352	"amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 6"	ALS2CR6		11586298	Standard	NM_020919		Approved		uc002uyo.3	Q96Q42	OTTHUMG00000154507	ENST00000264276.6:c.1050G>A	2.37:g.202625667C>T						ALS2_ENST00000467448.1_Silent_p.R350R	p.R350R	NM_020919.3	NP_065970.2	Q96Q42	ALS2_HUMAN			4	1422	-			350					Q53TT1|Q53TV2|Q8N1E0|Q96PC4|Q96Q41|Q9H973|Q9HCK9	Silent	SNP	ENST00000264276.6	37	c.1050G>A	CCDS42800.1																																																																																				0.423	ALS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335562.3	NM_020919		24	43	0	0	0	1	0	24	43					T	202625667	C	T	202625667	2	4	435	1	0	0	0	0	0	0	0	1	550	842	30	3		3	ALS2	2	202625667	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	50924	202625667	40573706	1466	22391											
ALS2	57679	broad.mit.edu	37	chr2	202626434	202626434	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gaagcttcctgttgccacagTaataacatattgcccaacca	13	10	6	12	0	0	0	0	0	0	0	1	1	1	0	4	0	5	3	4	0	5	6			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:202626434T>C	ENST00000264276.6	-	4	655	c.283A>G	c.(283-285)Act>Gct	p.T95A	ALS2_ENST00000467448.1_Missense_Mutation_p.T95A|ALS2_ENST00000496244.1_5'UTR	NM_020919.3	NP_065970.2	Q96Q42	ALS2_HUMAN	amyotrophic lateral sclerosis 2 (juvenile)	95					behavioral fear response (GO:0001662)|cell death (GO:0008219)|endosomal transport (GO:0016197)|endosome organization (GO:0007032)|locomotory behavior (GO:0007626)|neuromuscular junction development (GO:0007528)|neuron projection morphogenesis (GO:0048812)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of Rab GTPase activity (GO:0032851)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rac protein signal transduction (GO:0035022)|positive regulation of Ran GTPase activity (GO:0032853)|protein localization (GO:0008104)|receptor recycling (GO:0001881)|regulation of endosome size (GO:0051036)|response to oxidative stress (GO:0006979)|synaptic transmission, glutamatergic (GO:0035249)|vesicle organization (GO:0016050)	centrosome (GO:0005813)|cytosol (GO:0005829)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|early endosome (GO:0005769)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|postsynaptic density (GO:0014069)|protein complex (GO:0043234)|ruffle (GO:0001726)|vesicle (GO:0031982)	protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activator activity (GO:0043539)|Rab GTPase binding (GO:0017137)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|Ran guanyl-nucleotide exchange factor activity (GO:0005087)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(22)|ovary(1)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	72						GTTGCCACAGTAATAACATAT	0.507																																						ENST00000264276.6																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(22)|ovary(1)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	72						c.(283-285)Act>Gct		amyotrophic lateral sclerosis 2 (juvenile)							122	118	120					2																	202626434		1984	4160	6144	SO:0001583	missense	57679				cell death|endosome organization|positive regulation of Rac GTPase activity|regulation of endosome size	centrosome|cytosol|early endosome|growth cone|lamellipodium|protein complex|ruffle	protein homodimerization activity|protein serine/threonine kinase activator activity|Rab GTPase binding|Rab guanyl-nucleotide exchange factor activity|Rac guanyl-nucleotide exchange factor activity|Ran guanyl-nucleotide exchange factor activity	g.chr2:202626434T>C	AB053305	CCDS42800.1, CCDS46492.1	2q33-q35	2014-09-17	2004-06-23		ENSG00000003393	ENSG00000003393		"Rho guanine nucleotide exchange factors"	443	protein-coding gene	gene with protein product	"alsin"	606352	"amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 6"	ALS2CR6		11586298	Standard	NM_020919		Approved		uc002uyo.3	Q96Q42	OTTHUMG00000154507	ENST00000264276.6:c.283A>G	2.37:g.202626434T>C	ENSP00000264276:p.Thr95Ala					ALS2_ENST00000496244.1_5'UTR|ALS2_ENST00000467448.1_Missense_Mutation_p.T95A	p.T95A	NM_020919.3	NP_065970.2	Q96Q42	ALS2_HUMAN			4	655	-			95					Q53TT1|Q53TV2|Q8N1E0|Q96PC4|Q96Q41|Q9H973|Q9HCK9	Missense_Mutation	SNP	ENST00000264276.6	37	c.283A>G	CCDS42800.1	.	.	.	.	.	.	.	.	.	.	T	8.088	0.773866	0.16051	.	.	ENSG00000003393	ENST00000264276;ENST00000467448;ENST00000409632;ENST00000410052	T;T;T;T	0.79352	-1.26;-1.26;-1.26;-1.26	6.07	4.93	0.64822	Regulator of chromosome condensation/beta-lactamase-inhibitor protein II (2);	0.167786	0.53938	D	0.000052	T	0.56001	0.1956	N	0.17674	0.51	0.80722	D	1	B;B;B;B	0.17852	0.024;0.005;0.001;0.002	B;B;B;B	0.15484	0.01;0.013;0.001;0.0	T	0.51108	-0.8747	10	0.05525	T	0.97	.	6.879	0.24163	0.1343:0.0697:0.0:0.796	.	95;95;95;95	Q96Q42-2;Q96Q42-3;Q6IQ41;Q96Q42	.;.;.;ALS2_HUMAN	A	95	ENSP00000264276:T95A;ENSP00000429223:T95A;ENSP00000386384:T95A;ENSP00000386948:T95A	ENSP00000264276:T95A	T	-	1	0	ALS2	202334679	0.996000	0.38824	1.000000	0.80357	0.995000	0.86356	1.788000	0.38714	2.326000	0.78906	0.533000	0.62120	ACT		0.507	ALS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335562.3	NM_020919		39	65	0	0	0	1	0	39	65					C	202626434	T	C	202626434	3	2	435	1	0	0	0	0	1	0	0	0	550	1638	57	4	4892	4	ALS2	2	202626434	Missense_Mutation	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	767	202626434	40572939	1467	22392											
FZD7	8324	broad.mit.edu	37	chr2	202900064	202900064	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggtgagcgcgattgtggcGccccgtgcgaaccgggccgt	4	7	18	12	7	0	1	0	1	0	0	0	3	0	1	4	3	3	0	4	3	1	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:202900064G>A	ENST00000286201.1	+	1	755	c.694G>A	c.(694-696)Gcc>Acc	p.A232T	RP11-107N15.1_ENST00000608741.1_lincRNA	NM_003507.1	NP_003498.1	O75084	FZD7_HUMAN	frizzled class receptor 7	232					axonogenesis (GO:0007409)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|cellular response to retinoic acid (GO:0071300)|G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:0007199)|gonad development (GO:0008406)|mesenchymal to epithelial transition (GO:0060231)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of ectodermal cell fate specification (GO:0042666)|neuron differentiation (GO:0030182)|non-canonical Wnt signaling pathway via JNK cascade (GO:0038031)|positive regulation of epithelial cell proliferation involved in wound healing (GO:0060054)|positive regulation of JNK cascade (GO:0046330)|positive regulation of phosphorylation (GO:0042327)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of catenin import into nucleus (GO:0035412)|regulation of transcription, DNA-templated (GO:0006355)|skeletal muscle satellite cell maintenance involved in skeletal muscle regeneration (GO:0014834)|somatic stem cell division (GO:0048103)|stem cell maintenance (GO:0019827)|substrate adhesion-dependent cell spreading (GO:0034446)|T cell differentiation in thymus (GO:0033077)|vasculature development (GO:0001944)|Wnt signaling pathway, calcium modulating pathway (GO:0007223)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|neuron projection membrane (GO:0032589)|plasma membrane (GO:0005886)	frizzled binding (GO:0005109)|G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			breast(1)|endometrium(6)|large_intestine(6)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	31						CGATTGTGGCGCCCCGTGCGA	0.682											OREG0015146	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000286201.1																			0				breast(1)|endometrium(6)|large_intestine(6)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	31						c.(694-696)Gcc>Acc		frizzled family receptor 7							22	23	23					2																	202900064		2196	4289	6485	SO:0001583	missense	8324				axonogenesis|brain development|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|mesenchymal to epithelial transition|negative regulation of cell-substrate adhesion|negative regulation of ectodermal cell fate specification|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of phosphorylation|positive regulation of transcription, DNA-dependent|regulation of catenin import into nucleus|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway	apical part of cell|cytoplasm|integral to membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding	g.chr2:202900064G>A	AB010881	CCDS2351.1	2q33	2014-01-29	2014-01-29		ENSG00000155760	ENSG00000155760		"GPCR / Class F : Frizzled receptors"	4045	protein-coding gene	gene with protein product		603410	"frizzled (Drosophila) homolog 7", "frizzled homolog 7 (Drosophila)", "frizzled 7, seven transmembrane spanning receptor", "frizzled family receptor 7"			9707618, 9813155	Standard	NM_003507		Approved	FzE3	uc002uyw.1	O75084	OTTHUMG00000132841	ENST00000286201.1:c.694G>A	2.37:g.202900064G>A	ENSP00000286201:p.Ala232Thr		OREG0015146	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	2133		p.A232T	NM_003507.1	NP_003498.1	O75084	FZD7_HUMAN			1	755	+			232					O94816|Q53S59|Q96B74	Missense_Mutation	SNP	ENST00000286201.1	37	c.694G>A	CCDS2351.1	.	.	.	.	.	.	.	.	.	.	G	15.39	2.818118	0.50633	.	.	ENSG00000155760	ENST00000286201	T	0.76709	-1.04	5.02	5.02	0.67125	.	0.000000	0.85682	D	0.000000	T	0.80449	0.4625	M	0.67397	2.05	0.80722	D	1	D	0.58970	0.984	P	0.48304	0.573	T	0.78612	-0.2136	10	0.26408	T	0.33	.	18.5304	0.90990	0.0:0.0:1.0:0.0	.	232	O75084	FZD7_HUMAN	T	232	ENSP00000286201:A232T	ENSP00000286201:A232T	A	+	1	0	FZD7	202608309	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.607000	0.98328	2.607000	0.88179	0.563000	0.77884	GCC		0.682	FZD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256314.1	NM_003507		19	26	0	0	0	1	0	19	26					A	202900064	G	A	202900064	3	1	435	1	0	0	0	0	1	0	0	0	6135	1087	38	1	696	1	FZD7	2	202900064	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	273630	202900064	40299309	1468	22393											
FZD7	8324	broad.mit.edu	37	chr2	202900778	202900778	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agctggagaagctcatggtgCgcatcggcgtcttcagcgtg	7	9	15	10	4	3	1	2	0	1	1	4	2	3	1	0	3	4	3	0	3	1	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:202900778C>T	ENST00000286201.1	+	1	1469	c.1408C>T	c.(1408-1410)Cgc>Tgc	p.R470C	RP11-107N15.1_ENST00000608741.1_lincRNA	NM_003507.1	NP_003498.1	O75084	FZD7_HUMAN	frizzled class receptor 7	470					axonogenesis (GO:0007409)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|cellular response to retinoic acid (GO:0071300)|G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:0007199)|gonad development (GO:0008406)|mesenchymal to epithelial transition (GO:0060231)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of ectodermal cell fate specification (GO:0042666)|neuron differentiation (GO:0030182)|non-canonical Wnt signaling pathway via JNK cascade (GO:0038031)|positive regulation of epithelial cell proliferation involved in wound healing (GO:0060054)|positive regulation of JNK cascade (GO:0046330)|positive regulation of phosphorylation (GO:0042327)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of catenin import into nucleus (GO:0035412)|regulation of transcription, DNA-templated (GO:0006355)|skeletal muscle satellite cell maintenance involved in skeletal muscle regeneration (GO:0014834)|somatic stem cell division (GO:0048103)|stem cell maintenance (GO:0019827)|substrate adhesion-dependent cell spreading (GO:0034446)|T cell differentiation in thymus (GO:0033077)|vasculature development (GO:0001944)|Wnt signaling pathway, calcium modulating pathway (GO:0007223)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|neuron projection membrane (GO:0032589)|plasma membrane (GO:0005886)	frizzled binding (GO:0005109)|G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			breast(1)|endometrium(6)|large_intestine(6)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	31						GCTCATGGTGCGCATCGGCGT	0.617											OREG0015146	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000286201.1																			0				breast(1)|endometrium(6)|large_intestine(6)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	31						c.(1408-1410)Cgc>Tgc		frizzled family receptor 7							106	83	91					2																	202900778		2203	4300	6503	SO:0001583	missense	8324				axonogenesis|brain development|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|mesenchymal to epithelial transition|negative regulation of cell-substrate adhesion|negative regulation of ectodermal cell fate specification|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of phosphorylation|positive regulation of transcription, DNA-dependent|regulation of catenin import into nucleus|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway	apical part of cell|cytoplasm|integral to membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding	g.chr2:202900778C>T	AB010881	CCDS2351.1	2q33	2014-01-29	2014-01-29		ENSG00000155760	ENSG00000155760		"GPCR / Class F : Frizzled receptors"	4045	protein-coding gene	gene with protein product		603410	"frizzled (Drosophila) homolog 7", "frizzled homolog 7 (Drosophila)", "frizzled 7, seven transmembrane spanning receptor", "frizzled family receptor 7"			9707618, 9813155	Standard	NM_003507		Approved	FzE3	uc002uyw.1	O75084	OTTHUMG00000132841	ENST00000286201.1:c.1408C>T	2.37:g.202900778C>T	ENSP00000286201:p.Arg470Cys		OREG0015146	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	2133		p.R470C	NM_003507.1	NP_003498.1	O75084	FZD7_HUMAN			1	1469	+			470					O94816|Q53S59|Q96B74	Missense_Mutation	SNP	ENST00000286201.1	37	c.1408C>T	CCDS2351.1	.	.	.	.	.	.	.	.	.	.	C	18.72	3.683633	0.68157	.	.	ENSG00000155760	ENST00000286201	D	0.86366	-2.11	5.67	4.78	0.61160	GPCR, family 2-like (1);	0.000000	0.85682	D	0.000000	D	0.95711	0.8605	H	0.96269	3.795	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97193	0.9859	10	0.87932	D	0	.	16.5498	0.84470	0.0:0.8694:0.1306:0.0	.	470	O75084	FZD7_HUMAN	C	470	ENSP00000286201:R470C	ENSP00000286201:R470C	R	+	1	0	FZD7	202609023	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.942000	0.56614	1.369000	0.46134	0.655000	0.94253	CGC		0.617	FZD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256314.1	NM_003507		40	37	0	0	0	1	0	40	37					T	202900778	C	T	202900778	3	4	435	1	0	0	0	0	1	0	0	0	6135	768	27	1	1410	1	FZD7	2	202900778	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	714	202900778	40298595	1469	22394											
FAM117B	150864	broad.mit.edu	37	chr2	203624073	203624073	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggtcaaagtctttgaggaatGctcgtaagtatcccttccac	10	12	9	10	1	2	1	1	1	1	0	5	2	4	2	2	2	1	3	2	2	4	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:203624073G>A	ENST00000392238.2	+	7	1448	c.1448G>A	c.(1447-1449)tGc>tAc	p.C483Y	FAM117B_ENST00000303116.6_Missense_Mutation_p.C239Y			Q6P1L5	F117B_HUMAN	family with sequence similarity 117, member B	483										breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)	17						TTTGAGGAATGCTCGTAAGTA	0.423																																						ENST00000303116.6																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)	17						c.(715-717)tGc>tAc		family with sequence similarity 117, member B							88	83	84					2																	203624073		2203	4300	6503	SO:0001583	missense	150864							g.chr2:203624073G>A	AB053315	CCDS33362.1, CCDS33362.2	2q33	2008-08-18	2008-08-18	2008-08-18	ENSG00000138439	ENSG00000138439			14440	protein-coding gene	gene with protein product			"amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 13"	ALS2CR13		11586298	Standard	NM_173511		Approved	FLJ38771	uc010zhx.2	Q6P1L5	OTTHUMG00000154550	ENST00000392238.2:c.1448G>A	2.37:g.203624073G>A	ENSP00000376071:p.Cys483Tyr					FAM117B_ENST00000392238.2_Missense_Mutation_p.C483Y	p.C239Y	NM_173511.3	NP_775782.2	Q6P1L5	F117B_HUMAN			7	1458	+			483					Q53QZ5|Q585T9|Q8N8W1|Q96Q34	Missense_Mutation	SNP	ENST00000392238.2	37	c.716G>A	CCDS33362.2	.	.	.	.	.	.	.	.	.	.	G	12.90	2.076538	0.36662	.	.	ENSG00000138439	ENST00000303116;ENST00000392238	.	.	.	5.43	5.43	0.79202	.	0.311163	0.39985	N	0.001218	T	0.24005	0.0581	N	0.08118	0	0.32876	D	0.509876	P	0.44578	0.838	B	0.40165	0.321	T	0.17501	-1.0367	9	0.19590	T	0.45	-9.8507	14.7849	0.69796	0.0714:0.0:0.9286:0.0	.	483	Q6P1L5	F117B_HUMAN	Y	239;483	.	ENSP00000306299:C239Y	C	+	2	0	FAM117B	203332318	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.819000	0.55686	2.720000	0.93068	0.591000	0.81541	TGC		0.423	FAM117B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000335888.3	NM_173511		15	33	0	0	0	1	0	15	33					A	203624073	G	A	203624073	3	1	435	1	0	0	0	0	1	0	0	0	5410	1319	46	3	1474	3	FAM117B	2	203624073	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	723295	203624073	39575300	1470	22395											
WDR12	55759	broad.mit.edu	37	chr2	203760881	203760881	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	actttgtttctctctacattCcactcccataagagaatagt	11	15	4	11	0	2	1	0	0	2	1	5	2	4	1	2	0	1	1	2	0	4	6			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:203760881C>T	ENST00000261015.4	-	6	1265	c.516G>A	c.(514-516)tgG>tgA	p.W172*		NM_018256.3	NP_060726.3			WD repeat domain 12											endometrium(3)|large_intestine(1)|liver(1)|lung(6)|prostate(1)|skin(1)	13						TCTCTACATTCCACTCCCATA	0.393																																						ENST00000261015.3																			0				endometrium(3)|large_intestine(1)|liver(1)|lung(6)|prostate(1)|skin(1)	13						c.(514-516)tgG>tgA		WD repeat domain 12							104	95	98					2																	203760881		2203	4300	6503	SO:0001587	stop_gained	55759				cell proliferation|maturation of 5.8S rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|maturation of LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)	nucleoplasm|PeBoW complex|preribosome, large subunit precursor	protein binding	g.chr2:203760881C>T	AF242546	CCDS2356.1	2q33.1	2013-01-09			ENSG00000138442	ENSG00000138442		"WD repeat domain containing"	14098	protein-coding gene	gene with protein product						16043514, 17353269	Standard	NM_018256		Approved	YTM1, FLJ10881	uc002uzl.3	Q9GZL7	OTTHUMG00000132855	ENST00000261015.4:c.516G>A	2.37:g.203760881C>T	ENSP00000261015:p.Trp172*						p.W172*	NM_018256.3	NP_060726.3	Q9GZL7	WDR12_HUMAN			6	1265	-			172			Sufficient for nucleolar localization.			Nonsense_Mutation	SNP	ENST00000261015.4	37	c.516G>A	CCDS2356.1	.	.	.	.	.	.	.	.	.	.	C	43	10.084056	0.99332	.	.	ENSG00000138442	ENST00000261015	.	.	.	5.9	5.9	0.94986	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.14656	T	0.56	-5.7511	20.3268	0.98702	0.0:1.0:0.0:0.0	.	.	.	.	X	172	.	ENSP00000261015:W172X	W	-	3	0	WDR12	203469126	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.818000	0.86416	2.794000	0.96219	0.650000	0.86243	TGG		0.393	WDR12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256329.4	NM_018256		26	32	0	0	0	1	0	26	32					T	203760881	C	T	203760881	4	4	435	1	0	0	0	0	0	1	0	0	17271	856	30	3	787	3	WDR12	2	203760881	Nonsense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	136808	203760881	39438492	1471	22396											
ALS2CR8	79800	broad.mit.edu	37	chr2	203839141	203839141	+	Frame_Shift_Del	DEL	A	A	-																															tttccaactgtaaatgatatAaaaaatcacatccatgaggt																										TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:203839141delA	ENST00000402905.3	+	12	1737	c.1416delA	c.(1414-1416)atafs	p.I472fs	CARF_ENST00000545253.1_Frame_Shift_Del_p.I384fs|CARF_ENST00000414439.1_Frame_Shift_Del_p.I370fs|WDR12_ENST00000477723.1_Intron|CARF_ENST00000438828.2_Frame_Shift_Del_p.I472fs|CARF_ENST00000428585.1_Frame_Shift_Del_p.I396fs|CARF_ENST00000320443.8_Frame_Shift_Del_p.I472fs|CARF_ENST00000545262.1_Frame_Shift_Del_p.I396fs	NM_001104586.1|NM_001282910.1|NM_001282911.1|NM_001282912.1	NP_001098056.1|NP_001269839.1|NP_001269840.1|NP_001269841.1	Q8N187	CARTF_HUMAN	calcium responsive transcription factor	472					cellular response to calcium ion (GO:0071277)|cellular response to potassium ion (GO:0035865)|positive regulation of transcription from RNA polymerase II promoter in response to calcium ion (GO:0061400)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)										TAAATGATATAAAAAATCACA	0.333																																						ENST00000320443.8																			0											c.(1414-1416)atfs		calcium responsive transcription factor							86	89	88					2																	203839141		1823	4071	5894	SO:0001589	frameshift_variant	79800							g.chr2:203839141delA	AB053309	CCDS42801.1, CCDS63091.1	2q33.3	2013-06-12	2013-06-12	2013-06-12	ENSG00000138380	ENSG00000138380			14435	protein-coding gene	gene with protein product	"calcium-response factor"	607586	"amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 8"	ALS2CR8		11586298, 11832226	Standard	XM_005246858		Approved	FLJ21579, CaRF, NYD-SP24	uc002uzo.2	Q8N187	OTTHUMG00000154528	ENST00000402905.3:c.1416delA	2.37:g.203839141delA	ENSP00000384006:p.Ile472fs					CARF_ENST00000428585.1_Frame_Shift_Del_p.I396fs|CARF_ENST00000402905.2_Frame_Shift_Del_p.I472fs|CARF_ENST00000414439.1_Frame_Shift_Del_p.I370fs|CARF_ENST00000545262.1_Frame_Shift_Del_p.I396fs|WDR12_ENST00000477723.1_Intron|CARF_ENST00000545253.1_Frame_Shift_Del_p.I384fs|CARF_ENST00000438828.2_Frame_Shift_Del_p.I472fs	p.I472fs							12	2459	+								B4E1W7|G3V1K7|Q8ND29|Q8WXC0|Q96J78|Q96Q38|Q96Q39|Q9H712	Frame_Shift_Del	DEL	ENST00000402905.3	37	c.1416delA	CCDS42801.1																																																																																				0.333	CARF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335768.5	NM_001104586		9	48						9	48	---	---	---	---	-	203839141	A	-	203839141	7	5	435	1	0	1	0	1	0	0	0	0	555	352	13	0	1454	0	ALS2CR8	2	203839141	Frame_Shift_Del	DEL	A	TCGA-XK-AAIW-01A-11D-A41K-08	78260	203839141	39360232	1472	22397											
ALS2CR8	79800	broad.mit.edu	37	chr2	203839189	203839189	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tccttgagaaatggagatacGgtatataactcagagattat	15	12	9	5	1	1	3	1	1	0	3	2	6	2	3	1	2	2	1	1	2	6	6			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:203839189G>A	ENST00000402905.3	+	12	1785	c.1464G>A	c.(1462-1464)acG>acA	p.T488T	CARF_ENST00000545253.1_Silent_p.T400T|CARF_ENST00000414439.1_Silent_p.T386T|WDR12_ENST00000477723.1_Intron|CARF_ENST00000438828.2_Silent_p.T488T|CARF_ENST00000428585.1_Silent_p.T412T|CARF_ENST00000320443.8_Silent_p.T488T|CARF_ENST00000545262.1_Silent_p.T412T	NM_001104586.1|NM_001282910.1|NM_001282911.1|NM_001282912.1	NP_001098056.1|NP_001269839.1|NP_001269840.1|NP_001269841.1	Q8N187	CARTF_HUMAN	calcium responsive transcription factor	488					cellular response to calcium ion (GO:0071277)|cellular response to potassium ion (GO:0035865)|positive regulation of transcription from RNA polymerase II promoter in response to calcium ion (GO:0061400)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.T488T(1)									ATGGAGATACGGTATATAACT	0.308																																						ENST00000320443.8																			1	Substitution - coding silent(1)	p.T488T(1)	lung(1)								c.(1462-1464)acG>acA		calcium responsive transcription factor							86	86	86					2																	203839189		1826	4069	5895	SO:0001819	synonymous_variant	79800							g.chr2:203839189G>A	AB053309	CCDS42801.1, CCDS63091.1	2q33.3	2013-06-12	2013-06-12	2013-06-12	ENSG00000138380	ENSG00000138380			14435	protein-coding gene	gene with protein product	"calcium-response factor"	607586	"amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 8"	ALS2CR8		11586298, 11832226	Standard	XM_005246858		Approved	FLJ21579, CaRF, NYD-SP24	uc002uzo.2	Q8N187	OTTHUMG00000154528	ENST00000402905.3:c.1464G>A	2.37:g.203839189G>A						WDR12_ENST00000477723.1_Intron|CARF_ENST00000438828.2_Silent_p.T488T|CARF_ENST00000428585.1_Silent_p.T412T|CARF_ENST00000402905.2_Silent_p.T488T|CARF_ENST00000414439.1_Silent_p.T386T|CARF_ENST00000545253.1_Silent_p.T400T|CARF_ENST00000545262.1_Silent_p.T412T	p.T488T							12	2507	+								B4E1W7|G3V1K7|Q8ND29|Q8WXC0|Q96J78|Q96Q38|Q96Q39|Q9H712	Silent	SNP	ENST00000402905.3	37	c.1464G>A	CCDS42801.1																																																																																				0.308	CARF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335768.5	NM_001104586		9	42	0	0	0	1	0	9	42					A	203839189	G	A	203839189	2	1	435	1	0	0	0	0	0	0	0	1	555	1103	39	2		2	ALS2CR8	2	203839189	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	48	203839189	39360184	1473	22398											
NBEAL1	65065	broad.mit.edu	37	chr2	204001353	204001353	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagcttcttcaattactgaCacatattttgaattatgtaa	13	16	6	6	0	2	2	1	2	1	0	2	3	2	3	0	1	2	2	0	1	6	8			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:204001353C>G	ENST00000449802.1	+	28	4667	c.4334C>G	c.(4333-4335)aCa>aGa	p.T1445R		NM_001114132.1	NP_001107604.1	Q6ZS30	NBEL1_HUMAN	neurobeachin-like 1	1445										NS(1)|breast(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						CAATTACTGACACATATTTTG	0.343																																						ENST00000449802.1																			0				NS(1)|breast(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						c.(4333-4335)aCa>aGa		neurobeachin-like 1							82	77	78					2																	204001353		1835	4083	5918	SO:0001583	missense	65065						binding	g.chr2:204001353C>G	AY172970	CCDS46495.1	2q33	2013-01-10			ENSG00000144426	ENSG00000144426		"WD repeat domain containing"	20681	protein-coding gene	gene with protein product		609816	"amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 17", "amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 16"	ALS2CR17, ALS2CR16		15193433	Standard	NM_001114132		Approved	MGC164581	uc002uzt.3	Q6ZS30	OTTHUMG00000154129	ENST00000449802.1:c.4334C>G	2.37:g.204001353C>G	ENSP00000399903:p.Thr1445Arg						p.T1445R	NM_001114132.1	NP_001107604.1	Q6ZS30	NBEL1_HUMAN			28	4667	+			1445					A6NHD5|Q6Y876|Q6ZP36|Q6ZQY5|Q8N8R4|Q96Q30|Q96Q31	Missense_Mutation	SNP	ENST00000449802.1	37	c.4334C>G	CCDS46495.1	.	.	.	.	.	.	.	.	.	.	C	17.85	3.490063	0.64074	.	.	ENSG00000144426	ENST00000449802;ENST00000340268	T	0.56611	0.45	5.9	5.02	0.67125	.	0.942427	0.09016	N	0.860767	T	0.62539	0.2436	M	0.71581	2.175	0.46149	D	0.998893	D;D	0.54397	0.966;0.966	P;P	0.47299	0.543;0.543	T	0.61983	-0.6950	10	0.72032	D	0.01	.	14.6426	0.68737	0.0:0.9296:0.0:0.0704	.	1445;1434	Q6ZS30;C9JGK5	NBEL1_HUMAN;.	R	1445	ENSP00000399903:T1445R	ENSP00000344985:T1445R	T	+	2	0	NBEAL1	203709598	1.000000	0.71417	0.969000	0.41365	0.956000	0.61745	3.556000	0.53734	1.497000	0.48584	0.650000	0.86243	ACA		0.343	NBEAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333982.4			15	22	0	0	0	1	0	15	22					G	204001353	C	G	204001353	3	3	435	1	0	0	0	0	1	0	0	0	10188	478	17	5	4440	5	NBEAL1	2	204001353	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	162164	204001353	39198020	1474	22399											
NBEAL1	65065	broad.mit.edu	37	chr2	204009786	204009786	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacattttacgatggtcatgAgaacatggcactttattgga	12	14	9	6	1	1	1	1	1	0	1	1	4	1	2	0	3	3	1	0	3	4	6			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:204009786A>G	ENST00000449802.1	+	32	5453	c.5120A>G	c.(5119-5121)gAg>gGg	p.E1707G		NM_001114132.1	NP_001107604.1	Q6ZS30	NBEL1_HUMAN	neurobeachin-like 1	1707										NS(1)|breast(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						GATGGTCATGAGAACATGGCA	0.328																																						ENST00000449802.1																			0				NS(1)|breast(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						c.(5119-5121)gAg>gGg		neurobeachin-like 1							84	79	80					2																	204009786		1828	4079	5907	SO:0001583	missense	65065						binding	g.chr2:204009786A>G	AY172970	CCDS46495.1	2q33	2013-01-10			ENSG00000144426	ENSG00000144426		"WD repeat domain containing"	20681	protein-coding gene	gene with protein product		609816	"amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 17", "amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 16"	ALS2CR17, ALS2CR16		15193433	Standard	NM_001114132		Approved	MGC164581	uc002uzt.3	Q6ZS30	OTTHUMG00000154129	ENST00000449802.1:c.5120A>G	2.37:g.204009786A>G	ENSP00000399903:p.Glu1707Gly						p.E1707G	NM_001114132.1	NP_001107604.1	Q6ZS30	NBEL1_HUMAN			32	5453	+			1707					A6NHD5|Q6Y876|Q6ZP36|Q6ZQY5|Q8N8R4|Q96Q30|Q96Q31	Missense_Mutation	SNP	ENST00000449802.1	37	c.5120A>G	CCDS46495.1	.	.	.	.	.	.	.	.	.	.	A	15.79	2.937024	0.52972	.	.	ENSG00000144426	ENST00000449802;ENST00000340268	T	0.56444	0.46	5.79	3.42	0.39159	.	0.096535	0.64402	N	0.000001	T	0.51024	0.1650	M	0.67953	2.075	0.58432	D	0.999999	P;P	0.48294	0.908;0.908	P;P	0.44422	0.449;0.449	T	0.45101	-0.9284	10	0.34782	T	0.22	.	9.6496	0.39888	0.8581:0.0:0.1419:0.0	.	1707;1696	Q6ZS30;C9JGK5	NBEL1_HUMAN;.	G	1707	ENSP00000399903:E1707G	ENSP00000344985:E1707G	E	+	2	0	NBEAL1	203718031	1.000000	0.71417	0.992000	0.48379	0.998000	0.95712	5.939000	0.70179	0.470000	0.27294	0.528000	0.53228	GAG		0.328	NBEAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333982.4			8	7	0	0	0	1	0	8	7					G	204009786	A	G	204009786	3	3	435	1	0	0	0	0	1	0	0	0	10188	304	11	4	5242	4	NBEAL1	2	204009786	Missense_Mutation	SNP	A	TCGA-XK-AAIW-01A-11D-A41K-08	8433	204009786	39189587	1475	22400											
ABI2	10152	broad.mit.edu	37	chr2	204259440	204259440	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	taggcggcactccccctatcGcacactggagccagtgcgtc	7	7	11	16	3	0	0	0	0	0	0	3	1	1	1	3	3	2	2	3	3	2	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:204259440G>A	ENST00000422511.2	+	6	627	c.596G>A	c.(595-597)cGc>cAc	p.R199H	ABI2_ENST00000430418.1_Intron|ABI2_ENST00000295851.5_Missense_Mutation_p.R199H|ABI2_ENST00000261018.7_Intron|ABI2_ENST00000261017.5_Missense_Mutation_p.R193H|RAPH1_ENST00000457812.1_3'UTR|ABI2_ENST00000424558.1_Missense_Mutation_p.R193H|ABI2_ENST00000430574.1_3'UTR|ABI2_ENST00000261016.6_Missense_Mutation_p.R148H			Q9NYB9	ABI2_HUMAN	abl-interactor 2	199	Pro-rich.				actin polymerization or depolymerization (GO:0008154)|cell migration (GO:0016477)|cellular component movement (GO:0006928)|cytoskeleton organization (GO:0007010)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of Arp2/3 complex-mediated actin nucleation (GO:2000601)|Rac protein signal transduction (GO:0016601)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|filopodium (GO:0030175)|lamellipodium (GO:0030027)|SCAR complex (GO:0031209)	cytoskeletal adaptor activity (GO:0008093)|DNA binding (GO:0003677)|kinase binding (GO:0019900)|proline-rich region binding (GO:0070064)|protein complex binding (GO:0032403)|SH3 domain binding (GO:0017124)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|kidney(3)|large_intestine(1)|liver(2)|lung(4)|prostate(2)|skin(1)|urinary_tract(1)	15						TCCCCCTATCGCACACTGGAG	0.498																																						ENST00000295851.4																			0				breast(1)|kidney(3)|large_intestine(1)|liver(2)|lung(4)|prostate(2)|skin(1)|urinary_tract(1)	15						c.(595-597)cGc>cAc		abl-interactor 2							120	110	114					2																	204259440		2203	4300	6503	SO:0001583	missense	10152				actin polymerization or depolymerization|cell migration|peptidyl-tyrosine phosphorylation	cytoskeleton|cytosol|filopodium|lamellipodium	cytoskeletal adaptor activity|DNA binding|kinase binding|proline-rich region binding|SH3 domain binding|ubiquitin protein ligase binding	g.chr2:204259440G>A	AF260261	CCDS2358.1, CCDS63093.1, CCDS63094.1, CCDS74634.1	2q33	2010-09-20	2009-07-23		ENSG00000138443	ENSG00000138443			24011	protein-coding gene	gene with protein product		606442				7590236, 10964520	Standard	XM_005246217		Approved	ABI-2, AIP-1, ABI2B, AblBP3, argBPIA, SSH3BP2	uc002uzz.3	Q9NYB9	OTTHUMG00000132879	ENST00000422511.2:c.596G>A	2.37:g.204259440G>A	ENSP00000396249:p.Arg199His					ABI2_ENST00000261016.6_Missense_Mutation_p.R148H|ABI2_ENST00000261018.7_Intron|ABI2_ENST00000424558.1_Missense_Mutation_p.R193H|ABI2_ENST00000430574.1_3'UTR|ABI2_ENST00000422511.2_Missense_Mutation_p.R199H|ABI2_ENST00000430418.1_Intron|ABI2_ENST00000261017.5_Missense_Mutation_p.R193H|RAPH1_ENST00000457812.1_3'UTR	p.R199H			Q9NYB9	ABI2_HUMAN			6	892	+			199			Pro-rich.		B4DSN1|Q13147|Q13249|Q13801|Q9BV70	Missense_Mutation	SNP	ENST00000422511.2	37	c.596G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	26.4|26.4	4.729978|4.729978	0.89390|0.89390	.|.	.|.	ENSG00000138443|ENSG00000138443	ENST00000451591;ENST00000454023|ENST00000295851;ENST00000261017;ENST00000424558;ENST00000261016;ENST00000417864;ENST00000422511	.|D;D;D;D;D;D	.|0.94966	.|-3.57;-3.57;-3.57;-3.57;-3.57;-3.57	5.86|5.86	5.86|5.86	0.93980|0.93980	.|.	.|0.044334	.|0.85682	.|D	.|0.000000	D|D	0.96772|0.96772	0.8946|0.8946	L|L	0.59436|0.59436	1.845|1.845	0.80722|0.80722	D|D	1|1	.|D;D;D;D;D;D	.|0.89917	.|0.998;1.0;0.999;0.999;0.999;0.997	.|P;D;D;P;D;D	.|0.77004	.|0.749;0.95;0.989;0.891;0.984;0.93	D|D	0.96813|0.96813	0.9598|0.9598	5|10	.|0.87932	.|D	.|0	-7.7344|-7.7344	20.1996|20.1996	0.98256|0.98256	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|34;137;193;148;199;193	.|B7Z612;B7Z836;Q9NYB9-4;Q9NYB9-3;Q9NYB9;Q9NYB9-2	.|.;.;.;.;ABI2_HUMAN;.	T|H	65;40|199;193;193;148;199;199	.|ENSP00000295851:R199H;ENSP00000261017:R193H;ENSP00000391433:R193H;ENSP00000261016:R148H;ENSP00000414703:R199H;ENSP00000396249:R199H	.|ENSP00000261016:R148H	A|R	+|+	1|2	0|0	ABI2|ABI2	203967685|203967685	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	7.775000|7.775000	0.85489|0.85489	2.776000|2.776000	0.95493|0.95493	0.650000|0.650000	0.86243|0.86243	GCA|CGC		0.498	ABI2-007	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000336179.2	NM_005759		4	64	0	0	0	1	0	4	64					A	204259440	G	A	204259440	3	1	435	1	0	0	0	0	1	0	0	0	89	1087	38	1	596	1	ABI2	2	204259440	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	249654	204259440	38939933	1476	22401											
RAPH1	65059	broad.mit.edu	37	chr2	204304354	204304354	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tggttctgctctggacatgcGggaggagagtgagccgtgcc	6	9	17	9	2	2	2	0	1	2	1	2	5	2	4	2	4	4	2	2	4	0	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:204304354G>A	ENST00000319170.5	-	14	3858	c.3559C>T	c.(3559-3561)Cgc>Tgc	p.R1187C	ABI2_ENST00000295851.5_3'UTR|RAPH1_ENST00000374493.3_Missense_Mutation_p.R1239C|RAPH1_ENST00000457812.1_Intron	NM_213589.1	NP_998754.1	Q70E73	RAPH1_HUMAN	Ras association (RalGDS/AF-6) and pleckstrin homology domains 1	1187					axon extension (GO:0048675)|cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)				breast(5)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						CTGGACATGCGGGAGGAGAGT	0.562																																						ENST00000319170.5																			0				breast(5)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(3559-3561)Cgc>Tgc		Ras association (RalGDS/AF-6) and pleckstrin homology domains 1							118	107	111					2																	204304354		2203	4300	6503	SO:0001583	missense	65059				cell-matrix adhesion|signal transduction	cytoplasm|cytoskeleton|filopodium|lamellipodium|nucleus|plasma membrane		g.chr2:204304354G>A	AJ584699	CCDS2359.1, CCDS2360.1	2q33	2013-01-10	2003-11-25	2003-11-26	ENSG00000173166	ENSG00000173166		"Pleckstrin homology (PH) domain containing"	14436	protein-coding gene	gene with protein product	"amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 18"	609035	"amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 9"	ALS2CR9, ALS2CR18			Standard	NM_203365		Approved	KIAA1681	uc002vad.3	Q70E73	OTTHUMG00000132876	ENST00000319170.5:c.3559C>T	2.37:g.204304354G>A	ENSP00000316543:p.Arg1187Cys					RAPH1_ENST00000374493.3_Missense_Mutation_p.R1239C|RAPH1_ENST00000457812.1_Intron	p.R1187C	NM_213589.1	NP_998754.1	Q70E73	RAPH1_HUMAN			14	3858	-			1187					Q96Q37|Q9C0I2	Missense_Mutation	SNP	ENST00000319170.5	37	c.3559C>T	CCDS2359.1	.	.	.	.	.	.	.	.	.	.	G	12.16	1.853584	0.32791	.	.	ENSG00000173166	ENST00000319170;ENST00000374493	T;T	0.50548	0.74;0.74	5.18	5.18	0.71444	.	0.439260	0.16868	U	0.196247	T	0.54935	0.1889	L	0.27053	0.805	0.80722	D	1	D	0.89917	1.0	P	0.59221	0.854	T	0.59637	-0.7417	10	0.72032	D	0.01	-6.8817	18.6811	0.91546	0.0:0.0:1.0:0.0	.	1187	Q70E73	RAPH1_HUMAN	C	1187;1239	ENSP00000316543:R1187C;ENSP00000363617:R1239C	ENSP00000316543:R1187C	R	-	1	0	RAPH1	204012599	0.999000	0.42202	0.333000	0.25482	0.305000	0.27757	4.018000	0.57174	2.405000	0.81733	0.563000	0.77884	CGC		0.562	RAPH1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256363.2	NM_025252		16	22	0	0	0	1	0	16	22					A	204304354	G	A	204304354	3	1	435	1	0	0	0	0	1	0	0	0	13050	1116	39	2	197	2	RAPH1	2	204304354	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	44914	204304354	38895019	1477	22402											
RAPH1	65059	broad.mit.edu	37	chr2	204305754	204305754	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gggccatggcagagcctgggGttgggggtggaggaggggga	6	5	25	5	0	0	1	0	0	0	1	0	4	0	4	2	10	1	2	2	10	0	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:204305754G>A	ENST00000319170.5	-	14	2458	c.2159C>T	c.(2158-2160)aCc>aTc	p.T720I	ABI2_ENST00000295851.5_3'UTR|RAPH1_ENST00000374493.3_Missense_Mutation_p.T772I|RAPH1_ENST00000457812.1_Intron	NM_213589.1	NP_998754.1	Q70E73	RAPH1_HUMAN	Ras association (RalGDS/AF-6) and pleckstrin homology domains 1	720					axon extension (GO:0048675)|cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)				breast(5)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						AGAGCCtggggttgggggtgg	0.612																																						ENST00000319170.5																			0				breast(5)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(2158-2160)aCc>aTc		Ras association (RalGDS/AF-6) and pleckstrin homology domains 1							16	21	20					2																	204305754		1978	4055	6033	SO:0001583	missense	65059				cell-matrix adhesion|signal transduction	cytoplasm|cytoskeleton|filopodium|lamellipodium|nucleus|plasma membrane		g.chr2:204305754G>A	AJ584699	CCDS2359.1, CCDS2360.1	2q33	2013-01-10	2003-11-25	2003-11-26	ENSG00000173166	ENSG00000173166		"Pleckstrin homology (PH) domain containing"	14436	protein-coding gene	gene with protein product	"amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 18"	609035	"amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 9"	ALS2CR9, ALS2CR18			Standard	NM_203365		Approved	KIAA1681	uc002vad.3	Q70E73	OTTHUMG00000132876	ENST00000319170.5:c.2159C>T	2.37:g.204305754G>A	ENSP00000316543:p.Thr720Ile					RAPH1_ENST00000374493.3_Missense_Mutation_p.T772I|RAPH1_ENST00000457812.1_Intron	p.T720I	NM_213589.1	NP_998754.1	Q70E73	RAPH1_HUMAN			14	2458	-			720					Q96Q37|Q9C0I2	Missense_Mutation	SNP	ENST00000319170.5	37	c.2159C>T	CCDS2359.1	.	.	.	.	.	.	.	.	.	.	G	10.33	1.319324	0.23994	.	.	ENSG00000173166	ENST00000319170;ENST00000374493	T;T	0.41758	0.99;0.99	2.1	1.14	0.20703	.	.	.	.	.	T	0.23492	0.0568	N	0.14661	0.345	0.09310	N	0.999998	B	0.34147	0.438	B	0.35413	0.202	T	0.20174	-1.0283	9	0.16420	T	0.52	.	8.9967	0.36057	0.0:0.0:0.7761:0.2239	.	720	Q70E73	RAPH1_HUMAN	I	720;772	ENSP00000316543:T720I;ENSP00000363617:T772I	ENSP00000316543:T720I	T	-	2	0	RAPH1	204013999	0.571000	0.26659	0.025000	0.17156	0.896000	0.52359	2.302000	0.43637	0.392000	0.25172	0.305000	0.20034	ACC		0.612	RAPH1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256363.2	NM_025252		7	12	0	0	0	1	0	7	12					A	204305754	G	A	204305754	3	1	435	1	0	0	0	0	1	0	0	0	13050	1261	44	3	1597	3	RAPH1	2	204305754	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	1400	204305754	38893619	1478	22403											
CD28	940	broad.mit.edu	37	chr2	204591557	204591557	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttactcaaaaacggggttcaActgtgatgggaaattgggca	13	10	12	6	1	2	1	2	1	0	0	2	2	2	2	0	4	3	2	0	4	5	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:204591557A>G	ENST00000324106.8	+	2	403	c.254A>G	c.(253-255)aAc>aGc	p.N85S	CD28_ENST00000374478.4_Intron|CD28_ENST00000374481.3_Intron|CD28_ENST00000458610.2_Missense_Mutation_p.N99S	NM_001243077.1|NM_006139.3	NP_001230006.1|NP_006130.1	P10747	CD28_HUMAN	CD28 molecule	85	Ig-like V-type.				apoptotic signaling pathway (GO:0097190)|cell surface receptor signaling pathway (GO:0007166)|cytokine biosynthetic process (GO:0042089)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|negative thymic T cell selection (GO:0045060)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of alpha-beta T cell proliferation (GO:0046641)|positive regulation of inflammatory response to antigenic stimulus (GO:0002863)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of isotype switching to IgG isotypes (GO:0048304)|positive regulation of mitosis (GO:0045840)|positive regulation of signal transduction (GO:0009967)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of translation (GO:0045727)|positive regulation of viral genome replication (GO:0045070)|regulation of defense response to virus by virus (GO:0050690)|regulatory T cell differentiation (GO:0045066)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	cytosol (GO:0005829)|external side of plasma membrane (GO:0009897)|immunological synapse (GO:0001772)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	coreceptor activity (GO:0015026)|identical protein binding (GO:0042802)|protease binding (GO:0002020)|SH3/SH2 adaptor activity (GO:0005070)			endometrium(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	13						ACGGGGTTCAACTGTGATGGG	0.408																																						ENST00000324106.7																			0				endometrium(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	13						c.(253-255)aAc>aGc		CD28 molecule							133	127	129					2																	204591557		2203	4300	6503	SO:0001583	missense	940				cell surface receptor linked signaling pathway|cytokine biosynthetic process|humoral immune response|positive regulation of anti-apoptosis|positive regulation of interleukin-2 biosynthetic process|positive regulation of mitosis|positive regulation of translation|positive regulation of viral genome replication|regulation of defense response to virus by virus|regulatory T cell differentiation|T cell costimulation|viral reproduction	cytosol|external side of plasma membrane|integral to plasma membrane	coreceptor activity|protease binding|SH3/SH2 adaptor activity	g.chr2:204591557A>G	J02988	CCDS2361.1, CCDS58749.1	2q33	2013-01-11	2006-03-28		ENSG00000178562	ENSG00000178562		"CD molecules", "Immunoglobulin superfamily / V-set domain containing"	1653	protein-coding gene	gene with protein product	"T-cell-specific surface glycoprotein"	186760	"CD28 antigen (Tp44)"			1355979	Standard	NM_006139		Approved		uc002vah.4	P10747	OTTHUMG00000132878	ENST00000324106.8:c.254A>G	2.37:g.204591557A>G	ENSP00000324890:p.Asn85Ser					CD28_ENST00000458610.2_Missense_Mutation_p.N99S|CD28_ENST00000374478.4_Intron|CD28_ENST00000374481.3_Intron	p.N85S	NM_006139.3	NP_006130.1	P10747	CD28_HUMAN			2	403	+			85			Ig-like V-type.		A8KAC1|Q13964|Q52M23|Q70WG0|Q8NI54|Q8NI55|Q8NI56|Q8WXJ2|Q9BYV0	Missense_Mutation	SNP	ENST00000324106.8	37	c.254A>G	CCDS2361.1	.	.	.	.	.	.	.	.	.	.	A	9.218	1.032618	0.19590	.	.	ENSG00000178562	ENST00000458610;ENST00000324106	T;T	0.37411	1.2;1.2	5.89	0.758	0.18432	Immunoglobulin V-set (1);Immunoglobulin-like fold (1);	0.839211	0.11182	N	0.590803	T	0.29061	0.0722	L	0.59912	1.85	0.80722	D	1	B	0.20052	0.041	B	0.15870	0.014	T	0.08086	-1.0739	10	0.20519	T	0.43	-1.0559	5.6029	0.17363	0.6563:0.1317:0.212:0.0	.	85	P10747	CD28_HUMAN	S	99;85	ENSP00000393648:N99S;ENSP00000324890:N85S	ENSP00000324890:N85S	N	+	2	0	CD28	204299802	1.000000	0.71417	0.899000	0.35326	0.698000	0.40448	0.939000	0.28978	0.139000	0.18822	0.459000	0.35465	AAC		0.408	CD28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256366.3	NM_006139		29	42	0	0	0	1	0	29	42					G	204591557	A	G	204591557	3	3	435	1	0	0	0	0	1	0	0	0	2993	43	2	4	260	4	CD28	2	204591557	Missense_Mutation	SNP	A	TCGA-XK-AAIW-01A-11D-A41K-08	285803	204591557	38607816	1479	22404											
CD28	940	broad.mit.edu	37	chr2	204591691	204591691	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tagacaatgagaagagcaatGgaaccattatccatgtgaaa	18	8	9	6	0	0	4	0	2	0	3	1	6	1	5	2	1	2	1	2	1	7	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:204591691G>T	ENST00000324106.8	+	2	537	c.388G>T	c.(388-390)Gga>Tga	p.G130*	CD28_ENST00000374478.4_Intron|CD28_ENST00000374481.3_Nonsense_Mutation_p.G46*|CD28_ENST00000458610.2_Nonsense_Mutation_p.G144*	NM_001243077.1|NM_006139.3	NP_001230006.1|NP_006130.1	P10747	CD28_HUMAN	CD28 molecule	130	Ig-like V-type.				apoptotic signaling pathway (GO:0097190)|cell surface receptor signaling pathway (GO:0007166)|cytokine biosynthetic process (GO:0042089)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|negative thymic T cell selection (GO:0045060)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of alpha-beta T cell proliferation (GO:0046641)|positive regulation of inflammatory response to antigenic stimulus (GO:0002863)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of isotype switching to IgG isotypes (GO:0048304)|positive regulation of mitosis (GO:0045840)|positive regulation of signal transduction (GO:0009967)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of translation (GO:0045727)|positive regulation of viral genome replication (GO:0045070)|regulation of defense response to virus by virus (GO:0050690)|regulatory T cell differentiation (GO:0045066)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	cytosol (GO:0005829)|external side of plasma membrane (GO:0009897)|immunological synapse (GO:0001772)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	coreceptor activity (GO:0015026)|identical protein binding (GO:0042802)|protease binding (GO:0002020)|SH3/SH2 adaptor activity (GO:0005070)			endometrium(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	13						GAAGAGCAATGGAACCATTAT	0.373																																						ENST00000374481.3																			0				endometrium(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	13						c.(136-138)Gga>Tga		CD28 molecule							54	52	53					2																	204591691		2203	4300	6503	SO:0001587	stop_gained	940				cell surface receptor linked signaling pathway|cytokine biosynthetic process|humoral immune response|positive regulation of anti-apoptosis|positive regulation of interleukin-2 biosynthetic process|positive regulation of mitosis|positive regulation of translation|positive regulation of viral genome replication|regulation of defense response to virus by virus|regulatory T cell differentiation|T cell costimulation|viral reproduction	cytosol|external side of plasma membrane|integral to plasma membrane	coreceptor activity|protease binding|SH3/SH2 adaptor activity	g.chr2:204591691G>T	J02988	CCDS2361.1, CCDS58749.1	2q33	2013-01-11	2006-03-28		ENSG00000178562	ENSG00000178562		"CD molecules", "Immunoglobulin superfamily / V-set domain containing"	1653	protein-coding gene	gene with protein product	"T-cell-specific surface glycoprotein"	186760	"CD28 antigen (Tp44)"			1355979	Standard	NM_006139		Approved		uc002vah.4	P10747	OTTHUMG00000132878	ENST00000324106.8:c.388G>T	2.37:g.204591691G>T	ENSP00000324890:p.Gly130*					CD28_ENST00000458610.2_Nonsense_Mutation_p.G144*|CD28_ENST00000374478.4_Intron|CD28_ENST00000324106.7_Nonsense_Mutation_p.G130*	p.G46*			P10747	CD28_HUMAN			3	358	+			130			Ig-like V-type.		A8KAC1|Q13964|Q52M23|Q70WG0|Q8NI54|Q8NI55|Q8NI56|Q8WXJ2|Q9BYV0	Nonsense_Mutation	SNP	ENST00000324106.8	37	c.136G>T	CCDS2361.1	.	.	.	.	.	.	.	.	.	.	G	36	5.888179	0.97068	.	.	ENSG00000178562	ENST00000374481;ENST00000458610;ENST00000324106	.	.	.	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-19.3167	17.5042	0.87740	0.0:0.0:1.0:0.0	.	.	.	.	X	46;144;130	.	ENSP00000324890:G130X	G	+	1	0	CD28	204299936	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	6.069000	0.71209	2.677000	0.91161	0.561000	0.74099	GGA		0.373	CD28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256366.3	NM_006139		17	26	1	0	6.94344e-10	1	7.39541e-10	17	26					T	204591691	G	T	204591691	4	4	435	1	0	0	0	0	0	1	0	0	2993	1349	47	5	394	5	CD28	2	204591691	Nonsense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	134	204591691	38607682	1480	22405											
PARD3B	117583	broad.mit.edu	37	chr2	205990365	205990365	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gatgtcaccggacgaacccaGgaagagcttgtggccatgct	10	7	13	11	2	1	1	1	0	0	1	1	5	1	3	3	3	3	2	3	3	2	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:205990365G>T	ENST00000406610.2	+	10	1545	c.1338G>T	c.(1336-1338)caG>caT	p.Q446H	PARD3B_ENST00000462231.1_Missense_Mutation_p.Q446H|PARD3B_ENST00000358768.2_Missense_Mutation_p.Q446H|PARD3B_ENST00000351153.1_Missense_Mutation_p.Q446H|PARD3B_ENST00000349953.3_Missense_Mutation_p.Q446H	NM_057177.6|NM_152526.5|NM_205863.3	NP_476518.4|NP_689739.4|NP_995585.2	Q8TEW8	PAR3L_HUMAN	par-3 family cell polarity regulator beta	446	PDZ 2. {ECO:0000255|PROSITE- ProRule:PRU00143}.				cell cycle (GO:0007049)|cell division (GO:0051301)	membrane (GO:0016020)|tight junction (GO:0005923)				breast(1)|endometrium(9)|kidney(2)|large_intestine(6)|liver(4)|lung(33)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	65		all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06)		Epithelial(149;0.0739)		GACGAACCCAGGAAGAGCTTG	0.483																																						ENST00000406610.2																			0				breast(1)|endometrium(9)|kidney(2)|large_intestine(6)|liver(4)|lung(33)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	65						c.(1336-1338)caG>caT		par-3 family cell polarity regulator beta							108	109	108					2																	205990365		1999	4176	6175	SO:0001583	missense	117583				cell cycle|cell division	endomembrane system|tight junction		g.chr2:205990365G>T	AB053321	CCDS42804.1, CCDS42805.1, CCDS42806.1	2q33.3	2013-08-28	2013-08-28	2006-09-28	ENSG00000116117	ENSG00000116117			14446	protein-coding gene	gene with protein product			"amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 19", "par-3 partitioning defective 3 homolog B (C. elegans)"	ALS2CR19		11586298, 12459187	Standard	NM_057177		Approved	Par3L, PAR3beta	uc002vap.2	Q8TEW8	OTTHUMG00000154562	ENST00000406610.2:c.1338G>T	2.37:g.205990365G>T	ENSP00000385848:p.Gln446His					PARD3B_ENST00000349953.3_Missense_Mutation_p.Q446H|PARD3B_ENST00000462231.1_Missense_Mutation_p.Q446H|PARD3B_ENST00000358768.2_Missense_Mutation_p.Q446H|PARD3B_ENST00000351153.1_Missense_Mutation_p.Q446H	p.Q446H	NM_057177.6|NM_152526.5|NM_205863.3	NP_476518.4|NP_689739.4|NP_995585.2	Q8TEW8	PAR3L_HUMAN		Epithelial(149;0.0739)	10	1545	+		all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06)	446			PDZ 2.		E9PE87|Q8IUC7|Q8IUC9|Q96DK9|Q96N09|Q96NX6|Q96NX7|Q96Q29	Missense_Mutation	SNP	ENST00000406610.2	37	c.1338G>T		.	.	.	.	.	.	.	.	.	.	G	16.15	3.042403	0.55003	.	.	ENSG00000116117	ENST00000406610;ENST00000358768;ENST00000351153;ENST00000349953	T;T;T;T	0.13420	2.59;2.59;2.59;2.59	5.73	3.91	0.45181	PDZ/DHR/GLGF (4);	0.000000	0.85682	D	0.000000	T	0.14830	0.0358	N	0.05383	-0.06	0.58432	D	0.999991	D;P;D;D;D	0.89917	0.995;0.913;1.0;0.999;0.999	D;P;D;D;D	0.91635	0.995;0.808;0.999;0.999;0.999	T	0.20240	-1.0281	10	0.16896	T	0.51	.	9.5548	0.39332	0.3254:0.0:0.6746:0.0	.	446;446;446;446;446	Q8TEW8-3;Q8TEW8;E9PE87;Q8TEW8-2;Q8TEW8-5	.;PAR3L_HUMAN;.;.;.	H	446	ENSP00000385848:Q446H;ENSP00000351618:Q446H;ENSP00000317261:Q446H;ENSP00000340280:Q446H	ENSP00000340280:Q446H	Q	+	3	2	PARD3B	205698610	1.000000	0.71417	1.000000	0.80357	0.679000	0.39708	1.176000	0.31957	0.864000	0.35578	0.555000	0.69702	CAG		0.483	PARD3B-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000335992.1	NM_057177		20	34	1	0	2.27731e-05	1	2.3498e-05	20	34					T	205990365	G	T	205990365	3	4	435	1	0	0	0	0	1	0	0	0	11444	991	35	5	1376	5	PARD3B	2	205990365	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	1398674	205990365	37209008	1481	22406											
PARD3B	117583	broad.mit.edu	37	chr2	206305231	206305231	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgccagagtgaaccactttcGggaaccatgcacatcagcaa	13	7	9	12	1	1	2	1	1	0	1	2	3	1	3	3	1	5	2	3	1	3	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:206305231G>A	ENST00000406610.2	+	20	3086	c.2879G>A	c.(2878-2880)cGg>cAg	p.R960Q	PARD3B_ENST00000358768.2_Missense_Mutation_p.R898Q|PARD3B_ENST00000351153.1_Missense_Mutation_p.R891Q|PARD3B_ENST00000349953.3_Intron	NM_057177.6|NM_152526.5|NM_205863.3	NP_476518.4|NP_689739.4|NP_995585.2	Q8TEW8	PAR3L_HUMAN	par-3 family cell polarity regulator beta	960					cell cycle (GO:0007049)|cell division (GO:0051301)	membrane (GO:0016020)|tight junction (GO:0005923)		p.R898L(1)|p.R899L(1)|p.R891L(1)		breast(1)|endometrium(9)|kidney(2)|large_intestine(6)|liver(4)|lung(33)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	65		all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06)		Epithelial(149;0.0739)		AACCACTTTCGGGAACCATGC	0.473																																						ENST00000406610.2																			3	Substitution - Missense(3)	p.R898L(1)|p.R899L(1)|p.R891L(1)	lung(3)	breast(1)|endometrium(9)|kidney(2)|large_intestine(6)|liver(4)|lung(33)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	65						c.(2878-2880)cGg>cAg		par-3 family cell polarity regulator beta							186	185	186					2																	206305231		2019	4175	6194	SO:0001583	missense	117583				cell cycle|cell division	endomembrane system|tight junction		g.chr2:206305231G>A	AB053321	CCDS42804.1, CCDS42805.1, CCDS42806.1	2q33.3	2013-08-28	2013-08-28	2006-09-28	ENSG00000116117	ENSG00000116117			14446	protein-coding gene	gene with protein product			"amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 19", "par-3 partitioning defective 3 homolog B (C. elegans)"	ALS2CR19		11586298, 12459187	Standard	NM_057177		Approved	Par3L, PAR3beta	uc002vap.2	Q8TEW8	OTTHUMG00000154562	ENST00000406610.2:c.2879G>A	2.37:g.206305231G>A	ENSP00000385848:p.Arg960Gln					PARD3B_ENST00000349953.3_Intron|PARD3B_ENST00000358768.2_Missense_Mutation_p.R898Q|PARD3B_ENST00000351153.1_Missense_Mutation_p.R891Q	p.R960Q	NM_057177.6|NM_152526.5|NM_205863.3	NP_476518.4|NP_689739.4|NP_995585.2	Q8TEW8	PAR3L_HUMAN		Epithelial(149;0.0739)	20	3086	+		all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06)	960					E9PE87|Q8IUC7|Q8IUC9|Q96DK9|Q96N09|Q96NX6|Q96NX7|Q96Q29	Missense_Mutation	SNP	ENST00000406610.2	37	c.2879G>A		.	.	.	.	.	.	.	.	.	.	G	16.93	3.256831	0.59321	.	.	ENSG00000116117	ENST00000406610;ENST00000358768;ENST00000351153	T;T;T	0.34472	1.36;1.36;1.36	5.52	5.52	0.82312	.	0.000000	0.53938	D	0.000053	T	0.49712	0.1573	L	0.51422	1.61	0.80722	D	1	B;D;D	0.89917	0.002;0.984;1.0	B;P;D	0.64687	0.003;0.461;0.928	T	0.27706	-1.0066	10	0.30078	T	0.28	.	13.0677	0.59043	0.0738:0.0:0.9262:0.0	.	960;891;898	Q8TEW8;E9PE87;Q8TEW8-2	PAR3L_HUMAN;.;.	Q	960;898;891	ENSP00000385848:R960Q;ENSP00000351618:R898Q;ENSP00000317261:R891Q	ENSP00000317261:R891Q	R	+	2	0	PARD3B	206013476	1.000000	0.71417	1.000000	0.80357	0.744000	0.42396	3.154000	0.50693	2.755000	0.94549	0.591000	0.81541	CGG		0.473	PARD3B-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000335992.1	NM_057177		22	88	0	0	0	1	0	22	88					A	206305231	G	A	206305231	3	1	435	1	0	0	0	0	1	0	0	0	11444	1116	39	2	2957	2	PARD3B	2	206305231	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	314866	206305231	36894142	1482	22407											
NRP2	8828	broad.mit.edu	37	chr2	206590772	206590772	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tggtgatgacaatggctggaCccccaacttggattccaaca	11	9	10	11	0	0	2	0	2	0	0	1	4	1	4	3	4	2	1	3	4	3	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:206590772C>T	ENST00000357785.5	+	6	987	c.956C>T	c.(955-957)aCc>aTc	p.T319I	NRP2_ENST00000272849.3_Missense_Mutation_p.T319I|NRP2_ENST00000355117.4_Missense_Mutation_p.T319I|NRP2_ENST00000417189.1_Missense_Mutation_p.T319I|NRP2_ENST00000412873.2_Missense_Mutation_p.T319I|NRP2_ENST00000357118.4_Missense_Mutation_p.T319I|NRP2_ENST00000360409.3_Missense_Mutation_p.T319I|NRP2_ENST00000540841.1_Missense_Mutation_p.T319I|NRP2_ENST00000540178.1_Missense_Mutation_p.T319I			Q99435	NELL2_HUMAN	neuropilin 2	0	VWFC 1. {ECO:0000255|PROSITE- ProRule:PRU00220}.					extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(14)|lung(19)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	52						AATGGCTGGACCCCCAACTTG	0.522																																						ENST00000360409.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(14)|lung(19)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	52						c.(955-957)aCc>aTc		neuropilin 2							117	100	105					2																	206590772		2203	4300	6503	SO:0001583	missense	8828				angiogenesis|axon guidance|cell adhesion	integral to membrane|membrane fraction|plasma membrane	heparin binding|metal ion binding|semaphorin receptor activity|vascular endothelial growth factor receptor activity	g.chr2:206590772C>T	AF016098	CCDS2364.1, CCDS2365.1, CCDS46496.1, CCDS46497.1, CCDS46498.1, CCDS46499.1	2q33.3	2008-05-23			ENSG00000118257	ENSG00000118257			8005	protein-coding gene	gene with protein product		602070				9529250, 9331348	Standard	NM_003872		Approved	VEGF165R2	uc002vaw.3	O60462	OTTHUMG00000132893	ENST00000357785.5:c.956C>T	2.37:g.206590772C>T	ENSP00000350432:p.Thr319Ile					NRP2_ENST00000540841.1_Missense_Mutation_p.T319I|NRP2_ENST00000357118.4_Missense_Mutation_p.T319I|NRP2_ENST00000272849.3_Missense_Mutation_p.T319I|NRP2_ENST00000357785.5_Missense_Mutation_p.T319I|NRP2_ENST00000417189.1_Missense_Mutation_p.T319I|NRP2_ENST00000540178.1_Missense_Mutation_p.T319I|NRP2_ENST00000412873.2_Missense_Mutation_p.T319I|NRP2_ENST00000355117.4_Missense_Mutation_p.T319I	p.T319I	NM_003872.2|NM_201266.1|NM_201279.1	NP_003863.2|NP_957718.1|NP_958436.1	O60462	NRP2_HUMAN			6	1747	+			319			F5/8 type C 1.		B7Z2U7|B7Z5Q4|B7Z9J5|B7Z9U3|Q96JS2	Missense_Mutation	SNP	ENST00000357785.5	37	c.956C>T	CCDS46496.1	.	.	.	.	.	.	.	.	.	.	C	33	5.261222	0.95368	.	.	ENSG00000118257	ENST00000360409;ENST00000540178;ENST00000540841;ENST00000355117;ENST00000417189;ENST00000357118;ENST00000357785;ENST00000412873;ENST00000272849	D;D;D;D;D;D;D;D;D	0.98178	-4.77;-4.77;-4.77;-4.77;-4.77;-4.77;-4.77;-4.77;-4.77	5.8	5.8	0.92144	Coagulation factor 5/8 C-terminal type domain (4);Galactose-binding domain-like (1);	0.000000	0.85682	D	0.000000	D	0.98359	0.9455	L	0.41027	1.25	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;0.999;1.0;1.0;0.998	D;D;D;D;D;D	0.79108	0.992;0.992;0.962;0.992;0.992;0.967	D	0.99741	1.1015	10	0.59425	D	0.04	-29.1511	20.063	0.97692	0.0:1.0:0.0:0.0	.	319;319;319;319;319;319	O60462-2;O60462-3;O60462;O60462-4;O60462-5;E9PF66	.;.;NRP2_HUMAN;.;.;.	I	319	ENSP00000353582:T319I;ENSP00000439658:T319I;ENSP00000439261:T319I;ENSP00000347238:T319I;ENSP00000387519:T319I;ENSP00000349632:T319I;ENSP00000350432:T319I;ENSP00000407626:T319I;ENSP00000272849:T319I	ENSP00000272849:T319I	T	+	2	0	NRP2	206299017	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.818000	0.86416	2.735000	0.93741	0.655000	0.94253	ACC		0.522	NRP2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000336467.1			17	28	0	0	0	1	0	17	28					T	206590772	C	T	206590772	3	4	435	1	0	0	0	0	1	0	0	0	10661	507	18	3	978	3	NRP2	2	206590772	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	285541	206590772	36608601	1483	22408											
ZDBF2	57683	broad.mit.edu	37	chr2	207170124	207170124	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tggcttgaaattccatgaacGcatgggtactaagggctcct	10	11	11	9	1	0	2	0	2	0	0	2	2	2	2	2	3	2	4	2	3	4	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:207170124G>A	ENST00000374423.3	+	5	1258	c.872G>A	c.(871-873)cGc>cAc	p.R291H		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	291							nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						TTCCATGAACGCATGGGTACT	0.358																																						ENST00000374423.3																			0				endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						c.(871-873)cGc>cAc		zinc finger, DBF-type containing 2							36	35	35					2																	207170124		1823	4070	5893	SO:0001583	missense	57683						nucleic acid binding|zinc ion binding	g.chr2:207170124G>A	AB046791	CCDS46501.1, CCDS74637.1	2q33.3	2013-01-10			ENSG00000204186	ENSG00000204186		"Zinc fingers, DBF-type"	29313	protein-coding gene	gene with protein product						10997877	Standard	XM_005246711		Approved	FLJ45338, KIAA1571	uc002vbp.2	Q9HCK1	OTTHUMG00000154648	ENST00000374423.3:c.872G>A	2.37:g.207170124G>A	ENSP00000363545:p.Arg291His						p.R291H	NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN			5	1258	+			291					Q6ZNP7|Q6ZSN8	Missense_Mutation	SNP	ENST00000374423.3	37	c.872G>A	CCDS46501.1	.	.	.	.	.	.	.	.	.	.	G	2.020	-0.424861	0.04734	.	.	ENSG00000204186	ENST00000374423	T	0.18338	2.22	4.96	-3.71	0.04424	.	3.474950	0.01092	N	0.005191	T	0.09555	0.0235	N	0.22421	0.69	0.09310	N	1	B	0.21225	0.053	B	0.12156	0.007	T	0.18745	-1.0327	10	0.15066	T	0.55	.	3.639	0.08160	0.1375:0.4979:0.1839:0.1807	.	291	Q9HCK1	ZDBF2_HUMAN	H	291	ENSP00000363545:R291H	ENSP00000363545:R291H	R	+	2	0	ZDBF2	206878369	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.479000	0.06567	-0.294000	0.08973	-0.172000	0.13284	CGC		0.358	ZDBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336458.1	NM_020923		3	24	0	0	0	1	0	3	24					A	207170124	G	A	207170124	3	1	435	1	0	0	0	0	1	0	0	0	17596	1087	38	1	882	1	ZDBF2	2	207170124	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	579352	207170124	36029249	1484	22409											
ZDBF2	57683	broad.mit.edu	37	chr2	207173107	207173107	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aaacctacagattccagaatAaattttgattctcatgaacc	16	12	4	9	0	1	4	1	2	1	2	3	4	2	4	3	0	3	0	3	0	6	6			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:207173107A>G	ENST00000374423.3	+	5	4241	c.3855A>G	c.(3853-3855)atA>atG	p.I1285M		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	1285							nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						ATTCCAGAATAAATTTTGATT	0.393																																						ENST00000374423.3																			0				endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						c.(3853-3855)atA>atG		zinc finger, DBF-type containing 2							34	35	35					2																	207173107		1801	4078	5879	SO:0001583	missense	57683						nucleic acid binding|zinc ion binding	g.chr2:207173107A>G	AB046791	CCDS46501.1, CCDS74637.1	2q33.3	2013-01-10			ENSG00000204186	ENSG00000204186		"Zinc fingers, DBF-type"	29313	protein-coding gene	gene with protein product						10997877	Standard	XM_005246711		Approved	FLJ45338, KIAA1571	uc002vbp.2	Q9HCK1	OTTHUMG00000154648	ENST00000374423.3:c.3855A>G	2.37:g.207173107A>G	ENSP00000363545:p.Ile1285Met						p.I1285M	NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN			5	4241	+			1285					Q6ZNP7|Q6ZSN8	Missense_Mutation	SNP	ENST00000374423.3	37	c.3855A>G	CCDS46501.1	.	.	.	.	.	.	.	.	.	.	A	5.652	0.304906	0.10678	.	.	ENSG00000204186	ENST00000374423	T	0.51071	0.72	3.88	1.45	0.22620	.	.	.	.	.	T	0.36110	0.0955	L	0.49126	1.545	0.09310	N	1	B	0.30584	0.286	B	0.27887	0.084	T	0.29181	-1.0020	9	0.49607	T	0.09	.	3.898	0.09147	0.6679:0.2182:0.1138:0.0	.	1285	Q9HCK1	ZDBF2_HUMAN	M	1285	ENSP00000363545:I1285M	ENSP00000363545:I1285M	I	+	3	3	ZDBF2	206881352	0.002000	0.14202	0.005000	0.12908	0.001000	0.01503	0.949000	0.29109	0.310000	0.22990	0.528000	0.53228	ATA		0.393	ZDBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336458.1	NM_020923		4	44	0	0	0	1	0	4	44					G	207173107	A	G	207173107	3	3	435	1	0	0	0	0	1	0	0	0	17596	352	13	4	3865	4	ZDBF2	2	207173107	Missense_Mutation	SNP	A	TCGA-XK-AAIW-01A-11D-A41K-08	2983	207173107	36026266	1485	22410											
ZDBF2	57683	broad.mit.edu	37	chr2	207175942	207175942	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agaaagtatatttcgaaataCtctgtctttttacgtcatag	13	16	6	6	2	3	1	1	0	2	1	4	2	3	1	0	0	2	1	0	0	7	8			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:207175942C>T	ENST00000374423.3	+	5	7076	c.6690C>T	c.(6688-6690)taC>taT	p.Y2230Y		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	2230							nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)	p.Y2230*(1)		endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						TTTCGAAATACTCTGTCTTTT	0.373																																						ENST00000374423.3																			1	Substitution - Nonsense(1)	p.Y2230*(1)	upper_aerodigestive_tract(1)	endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						c.(6688-6690)taC>taT		zinc finger, DBF-type containing 2							40	39	40					2																	207175942		1818	4079	5897	SO:0001819	synonymous_variant	57683						nucleic acid binding|zinc ion binding	g.chr2:207175942C>T	AB046791	CCDS46501.1, CCDS74637.1	2q33.3	2013-01-10			ENSG00000204186	ENSG00000204186		"Zinc fingers, DBF-type"	29313	protein-coding gene	gene with protein product						10997877	Standard	XM_005246711		Approved	FLJ45338, KIAA1571	uc002vbp.2	Q9HCK1	OTTHUMG00000154648	ENST00000374423.3:c.6690C>T	2.37:g.207175942C>T							p.Y2230Y	NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN			5	7076	+			2230					Q6ZNP7|Q6ZSN8	Silent	SNP	ENST00000374423.3	37	c.6690C>T	CCDS46501.1																																																																																				0.373	ZDBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336458.1	NM_020923		10	8	0	0	0	1	0	10	8					T	207175942	C	T	207175942	2	4	435	1	0	0	0	0	0	0	0	1	17596	576	20	3		3	ZDBF2	2	207175942	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	2835	207175942	36023431	1486	22411											
LOC200726	0	broad.mit.edu	37	chr2	207508964	207508964	+	RNA	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tgtgcagttttagggccatgGctgatcctgggaacagagga	9	10	15	7	0	0	2	0	1	0	1	1	4	1	4	2	4	2	3	2	4	2	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:207508964G>A	ENST00000415029.1	+	0	1132				AC010731.4_ENST00000543490.1_lincRNA																							TAGGGCCATGGCTGATCCTGG	0.483																																						ENST00000543490.1																			0																				45	47	47					2																	207508964		1993	4142	6135			0							g.chr2:207508964G>A																													2.37:g.207508964G>A														0	179	+									RNA	SNP	ENST00000415029.1	37																																																																																						0.483	AC010731.3-001	KNOWN	basic	antisense	antisense	OTTHUMT00000336805.1			7	12	0	0	0	1	0	7	12					A	207508964	G	A	207508964	1	1	435	0	1	0	0	0	0	0	0	0	8872	1203	42	3		3	LOC200726	2	207508964	RNA	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	333022	207508964	35690409	1487	22412											
DYTN	391475	broad.mit.edu	37	chr2	207527852	207527852	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gactttctgtggcatcttttGtgtttggctttgtgccctgg	2	19	12	8	0	2	0	0	0	2	0	2	1	2	0	1	3	1	3	1	3	0	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:207527852G>A	ENST00000452335.2	-	11	1524	c.1408C>T	c.(1408-1410)Caa>Taa	p.Q470*		NM_001093730.1	NP_001087199.1	A2CJ06	DYTN_HUMAN	dystrotelin	470						plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(24)|ovary(1)|upper_aerodigestive_tract(1)	36				LUSC - Lung squamous cell carcinoma(261;0.082)|Epithelial(149;0.129)|Lung(261;0.153)		GGCATCTTTTGTGTTTGGCTT	0.493																																						ENST00000452335.2																			0				breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(24)|ovary(1)|upper_aerodigestive_tract(1)	36						c.(1408-1410)Caa>Taa		dystrotelin							179	170	173					2																	207527852		2014	4184	6198	SO:0001587	stop_gained	391475					plasma membrane	zinc ion binding	g.chr2:207527852G>A	ABF55377	CCDS46502.1	2q33.3	2007-01-22			ENSG00000232125	ENSG00000232125			23279	protein-coding gene	gene with protein product						17233888	Standard	NM_001093730		Approved		uc002vbr.1	A2CJ06	OTTHUMG00000154729	ENST00000452335.2:c.1408C>T	2.37:g.207527852G>A	ENSP00000396593:p.Gln470*						p.Q470*	NM_001093730.1	NP_001087199.1	A2CJ06	DYTN_HUMAN		LUSC - Lung squamous cell carcinoma(261;0.082)|Epithelial(149;0.129)|Lung(261;0.153)	11	1524	-			470						Nonsense_Mutation	SNP	ENST00000452335.2	37	c.1408C>T	CCDS46502.1	.	.	.	.	.	.	.	.	.	.	G	26.1	4.707587	0.89018	.	.	ENSG00000232125	ENST00000452335	.	.	.	5.12	4.2	0.49525	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.08837	T	0.75	-6.2503	11.4036	0.49885	0.0:0.1823:0.8177:0.0	.	.	.	.	X	470	.	ENSP00000396593:Q470X	Q	-	1	0	DYTN	207236097	0.964000	0.33143	0.437000	0.26809	0.018000	0.09664	2.892000	0.48625	1.454000	0.47793	0.650000	0.86243	CAA		0.493	DYTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336799.1			14	17	0	0	0	1	0	14	17					A	207527852	G	A	207527852	4	1	435	1	0	0	0	0	0	1	0	0	4861	1386	48	3	336	3	DYTN	2	207527852	Nonsense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	18888	207527852	35671521	1488	22413											
FASTKD2	22868	broad.mit.edu	37	chr2	207631944	207631944	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gttagatgcattttcaaaagCgcccacatttcctagtagca	12	12	7	10	1	1	1	1	0	0	1	2	1	2	1	2	0	3	4	2	0	5	6	rs367909050		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:207631944C>T	ENST00000236980.6	+	2	875	c.527C>T	c.(526-528)gCg>gTg	p.A176V	MDH1B_ENST00000449792.1_5'Flank|MDH1B_ENST00000454776.2_5'Flank|MDH1B_ENST00000392214.2_5'Flank|MDH1B_ENST00000374412.3_5'Flank|FASTKD2_ENST00000403094.3_Missense_Mutation_p.A176V|FASTKD2_ENST00000402774.3_Missense_Mutation_p.A176V	NM_014929.3	NP_055744.2	Q9NYY8	FAKD2_HUMAN	FAST kinase domains 2	176					cellular respiration (GO:0045333)	mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(2)	21				LUSC - Lung squamous cell carcinoma(261;0.0718)|Epithelial(149;0.119)|Lung(261;0.138)		TTTTCAAAAGCGCCCACATTT	0.408													C|||	1	0.000199681	0	0	5008	,	,		20933	0.001		0	False		,,,				2504	0					ENST00000236980.6																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(2)	21						c.(526-528)gCg>gTg		FAST kinase domains 2							121	118	119					2																	207631944		2203	4300	6503	SO:0001583	missense	22868				apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity	g.chr2:207631944C>T	BC001544	CCDS2371.1	2q33.3	2008-02-05	2006-07-07	2006-07-07	ENSG00000118246	ENSG00000118246			29160	protein-coding gene	gene with protein product		612322	"KIAA0971"	KIAA0971			Standard	NM_014929		Approved		uc002vbx.3	Q9NYY8	OTTHUMG00000132917	ENST00000236980.6:c.527C>T	2.37:g.207631944C>T	ENSP00000236980:p.Ala176Val					FASTKD2_ENST00000402774.3_Missense_Mutation_p.A176V|FASTKD2_ENST00000403094.3_Missense_Mutation_p.A176V	p.A176V	NM_014929.3	NP_055744.2	Q9NYY8	FAKD2_HUMAN		LUSC - Lung squamous cell carcinoma(261;0.0718)|Epithelial(149;0.119)|Lung(261;0.138)	2	875	+			176					Q9NVX6|Q9Y2H7	Missense_Mutation	SNP	ENST00000236980.6	37	c.527C>T	CCDS2371.1	.	.	.	.	.	.	.	.	.	.	C	6.509	0.462197	0.12342	.	.	ENSG00000118246	ENST00000236980;ENST00000402774;ENST00000403094	T;T;T	0.15718	2.4;2.4;2.4	5.31	1.63	0.23807	.	1.176150	0.06114	N	0.667791	T	0.19208	0.0461	L	0.48642	1.525	0.09310	N	1	D;P	0.56287	0.975;0.931	P;B	0.46975	0.533;0.207	T	0.21518	-1.0243	10	0.15499	T	0.54	-23.3686	9.0538	0.36392	0.0:0.5357:0.3397:0.1246	.	176;176	Q9NYY8-2;Q9NYY8	.;FAKD2_HUMAN	V	176	ENSP00000236980:A176V;ENSP00000385990:A176V;ENSP00000384929:A176V	ENSP00000236980:A176V	A	+	2	0	FASTKD2	207340189	0.001000	0.12720	0.877000	0.34402	0.141000	0.21300	0.095000	0.15127	1.210000	0.43336	0.561000	0.74099	GCG		0.408	FASTKD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256428.2	NM_014929		37	73	0	0	0	1	0	37	73					T	207631944	C	T	207631944	3	4	435	1	0	0	0	0	1	0	0	0	5686	768	27	1	529	1	FASTKD2	2	207631944	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	104092	207631944	35567429	1489	22414											
CREB1	1385	broad.mit.edu	37	chr2	208442363	208442363	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcacgaaagagagaggtcCgtctaatgaagaacaggtac	16	5	12	8	2	1	4	0	1	1	3	2	6	2	4	1	2	3	2	1	2	5	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:208442363C>T	ENST00000432329.2	+	8	1116	c.865C>T	c.(865-867)Cgt>Tgt	p.R289C	CREB1_ENST00000374397.4_Missense_Mutation_p.R178C|CREB1_ENST00000430624.1_Missense_Mutation_p.R275C|CREB1_ENST00000353267.3_Missense_Mutation_p.R275C	NM_134442.3	NP_604391.1	P16220	CREB1_HUMAN	cAMP responsive element binding protein 1	289	Basic motif. {ECO:0000255|PROSITE- ProRule:PRU00978}.|bZIP. {ECO:0000255|PROSITE- ProRule:PRU00978}.				activation of phospholipase C activity (GO:0007202)|axon guidance (GO:0007411)|cellular response to zinc ion (GO:0071294)|circadian rhythm (GO:0007623)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|lactation (GO:0007595)|lung saccule development (GO:0060430)|memory (GO:0007613)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of transcription by competitive promoter binding (GO:0010944)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)|pituitary gland development (GO:0021983)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of hormone secretion (GO:0046887)|positive regulation of lipid biosynthetic process (GO:0046889)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)|regulation of cell size (GO:0008361)|response to drug (GO:0042493)|response to glucagon (GO:0033762)|response to organic substance (GO:0010033)|secretory granule organization (GO:0033363)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|synaptic transmission (GO:0007268)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription from RNA polymerase II promoter (GO:0006366)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|Type I pneumocyte differentiation (GO:0060509)|viral process (GO:0016032)	nuclear euchromatin (GO:0005719)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	cAMP response element binding (GO:0035497)|enzyme binding (GO:0019899)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription cofactor activity (GO:0003712)		EWSR1/CREB1(44)	NS(1)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|upper_aerodigestive_tract(1)	5				LUSC - Lung squamous cell carcinoma(261;0.0768)|Epithelial(149;0.127)|Lung(261;0.145)	Adenosine monophosphate(DB00131)|Naloxone(DB01183)	GAGAGAGGTCCGTCTAATGAA	0.453			T	EWSR1	"clear cell sarcoma, angiomatoid fibrous histiocytoma"																																	ENST00000432329.2				Dom	yes		2	2q34	1385	T	cAMP responsive element binding protein 1			M	EWSR1		"clear cell sarcoma, angiomatoid fibrous histiocytoma"	EWSR1/CREB1(44)	0				NS(1)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|upper_aerodigestive_tract(1)	5						c.(865-867)Cgt>Tgt		cAMP responsive element binding protein 1	Adenosine monophosphate(DB00131)|Bromocriptine(DB01200)|Naloxone(DB01183)						122	108	112					2																	208442363		2203	4300	6503	SO:0001583	missense	1385				activation of phospholipase C activity|axon guidance|innate immune response|interspecies interaction between organisms|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of transcription from RNA polymerase II promoter|protein phosphorylation|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway		protein dimerization activity|transcription cofactor activity	g.chr2:208442363C>T	M27691	CCDS2374.1, CCDS2375.1	2q34	2013-01-10			ENSG00000118260	ENSG00000118260		"basic leucine zipper proteins"	2345	protein-coding gene	gene with protein product		123810					Standard	NM_134442		Approved		uc002vcc.3	P16220	OTTHUMG00000132936	ENST00000432329.2:c.865C>T	2.37:g.208442363C>T	ENSP00000387699:p.Arg289Cys					CREB1_ENST00000430624.1_Missense_Mutation_p.R275C|CREB1_ENST00000374397.4_Missense_Mutation_p.R178C|CREB1_ENST00000353267.3_Missense_Mutation_p.R275C	p.R289C	NM_134442.3	NP_604391.1	P16220	CREB1_HUMAN		LUSC - Lung squamous cell carcinoma(261;0.0768)|Epithelial(149;0.127)|Lung(261;0.145)	8	1116	+			289					P21934|Q6V963|Q9UMA7	Missense_Mutation	SNP	ENST00000432329.2	37	c.865C>T	CCDS2375.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.137018	0.77775	.	.	ENSG00000118260	ENST00000430624;ENST00000432329;ENST00000353267;ENST00000374397;ENST00000448277;ENST00000455757	T;T;T;T;T;T	0.67865	-0.29;-0.29;-0.29;-0.29;-0.29;-0.14	5.86	5.86	0.93980	Basic-leucine zipper (bZIP) transcription factor (3);bZIP transcription factor, bZIP-1 (1);	0.000000	0.85682	D	0.000000	D	0.89515	0.6737	H	0.99156	4.45	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.93148	0.6547	10	0.87932	D	0	-9.4566	14.9532	0.71091	0.1429:0.8571:0.0:0.0	.	275;289	Q53X93;P16220	.;CREB1_HUMAN	C	275;289;275;178;235;102	ENSP00000405539:R275C;ENSP00000387699:R289C;ENSP00000236995:R275C;ENSP00000363518:R178C;ENSP00000405711:R235C;ENSP00000401803:R102C	ENSP00000236995:R275C	R	+	1	0	CREB1	208150608	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	5.930000	0.70104	2.774000	0.95407	0.585000	0.79938	CGT		0.453	CREB1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256467.3	NM_134442		4	17	0	0	0	1	0	4	17					T	208442363	C	T	208442363	3	4	435	1	0	0	0	0	1	0	0	0	3854	652	23	2	891	2	CREB1	2	208442363	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	810419	208442363	34757010	1490	22415											
FAM119A	151194	broad.mit.edu	37	chr2	208478148	208478148	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tctaatgctacttttcgatcCgtgatagtcacatgagcacc	10	13	7	11	2	2	2	1	2	1	0	4	3	3	2	2	0	3	2	2	0	3	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:208478148C>T	ENST00000411432.1	-	4	495	c.279G>A	c.(277-279)acG>acA	p.T93T	METTL21A_ENST00000458426.1_Intron|METTL21A_ENST00000477919.1_5'Flank|METTL21A_ENST00000432416.1_Intron|METTL21A_ENST00000426075.1_Silent_p.T93T|METTL21A_ENST00000425132.1_Intron|METTL21A_ENST00000442521.1_Silent_p.T93T|METTL21A_ENST00000272839.3_Silent_p.T111T|METTL21A_ENST00000448007.2_Silent_p.T93T|METTL21A_ENST00000406927.2_Silent_p.T93T|METTL21A_ENST00000448823.2_3'UTR	NM_001127395.1	NP_001120867.1	Q8WXB1	MT21A_HUMAN	methyltransferase like 21A	93					peptidyl-lysine methylation (GO:0018022)|protein methylation (GO:0006479)	cytoplasm (GO:0005737)	ATPase binding (GO:0051117)|Hsp70 protein binding (GO:0030544)|protein-lysine N-methyltransferase activity (GO:0016279)			endometrium(2)|large_intestine(3)|lung(3)|ovary(1)|stomach(1)	10						CTTTTCGATCCGTGATAGTCA	0.388																																						ENST00000411432.1																			0				endometrium(2)|large_intestine(3)|lung(3)|ovary(1)|stomach(1)	10						c.(277-279)acG>acA		methyltransferase like 21A							69	62	65					2																	208478148		2203	4300	6503	SO:0001819	synonymous_variant	151194					integral to membrane	methyltransferase activity	g.chr2:208478148C>T	AK093812, AF455817	CCDS2376.1	2q33.3	2013-09-30	2011-03-03	2011-03-03	ENSG00000144401	ENSG00000144401			30476	protein-coding gene	gene with protein product	"Hepatocellular carcinoma-associated antigen 557b", "heat shock protein 70kDa lysine (K) methyltransferase"	615257	"family with sequence similarity 119, member A"	FAM119A		23921388	Standard	NM_145280		Approved	LOC151194, HCA557b, HSPA-KMT	uc010fuk.1	Q8WXB1	OTTHUMG00000132934	ENST00000411432.1:c.279G>A	2.37:g.208478148C>T						METTL21A_ENST00000426075.1_Silent_p.T93T|METTL21A_ENST00000272839.3_Silent_p.T111T|METTL21A_ENST00000432416.1_Intron|METTL21A_ENST00000442521.1_Silent_p.T93T|METTL21A_ENST00000406927.2_Silent_p.T93T|METTL21A_ENST00000448007.2_Silent_p.T93T|METTL21A_ENST00000448823.2_3'UTR|METTL21A_ENST00000425132.1_Intron|METTL21A_ENST00000458426.1_Intron	p.T93T	NM_001127395.1	NP_001120867.1	Q8WXB1	MT21A_HUMAN			4	495	-			93					Q53RV0|Q8N1Z9|Q96GH6	Silent	SNP	ENST00000411432.1	37	c.279G>A	CCDS2376.1																																																																																				0.388	METTL21A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337044.1	NM_145280		19	39	0	0	0	1	0	19	39					T	208478148	C	T	208478148	2	4	435	1	0	0	0	0	0	0	0	1	5413	639	23	2		2	FAM119A	2	208478148	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	35785	208478148	34721225	1491	22416											
FZD5	7855	broad.mit.edu	37	chr2	208631738	208631738	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cagggacacctgcttgtggtAggtggcggcggggcccggcg	4	6	20	11	4	0	0	0	0	0	0	0	1	0	1	2	8	1	2	2	8	1	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:208631738A>G	ENST00000295417.3	-	2	2279	c.1726T>C	c.(1726-1728)Tac>Cac	p.Y576H		NM_003468.3	NP_003459.2	Q13467	FZD5_HUMAN	frizzled class receptor 5	576					angiogenesis (GO:0001525)|anterior/posterior axis specification, embryo (GO:0008595)|apoptotic process (GO:0006915)|apoptotic process involved in morphogenesis (GO:0060561)|axonogenesis (GO:0007409)|brain development (GO:0007420)|branching involved in labyrinthine layer morphogenesis (GO:0060670)|canonical Wnt signaling pathway (GO:0060070)|cell maturation (GO:0048469)|cellular response to molecule of bacterial origin (GO:0071219)|chorionic trophoblast cell differentiation (GO:0060718)|embryonic axis specification (GO:0000578)|embryonic camera-type eye development (GO:0031076)|gonad development (GO:0008406)|labyrinthine layer blood vessel development (GO:0060716)|negative regulation of cell proliferation (GO:0008285)|neuron differentiation (GO:0030182)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic camera-type eye development (GO:0031077)|regulation of canonical Wnt signaling pathway (GO:0060828)|regulation of chorionic trophoblast cell proliferation (GO:1901382)|regulation of tight junction assembly (GO:2000810)|Spemann organizer formation (GO:0060061)|syncytiotrophoblast cell differentiation involved in labyrinthine layer development (GO:0060715)|T cell differentiation in thymus (GO:0033077)|Wnt signaling pathway involved in dorsal/ventral axis specification (GO:0044332)	cell projection (GO:0042995)|cell surface (GO:0009986)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|protein kinase binding (GO:0019901)|ubiquitin protein ligase binding (GO:0031625)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			NS(1)|kidney(1)|lung(1)|ovary(2)|prostate(1)|skin(1)	7				LUSC - Lung squamous cell carcinoma(261;0.0703)|Epithelial(149;0.13)|Lung(261;0.134)		TGCTTGTGGTAGGTggcggcg	0.726																																						ENST00000295417.3																			0				NS(1)|kidney(1)|lung(1)|ovary(2)|prostate(1)|skin(1)	7						c.(1726-1728)Tac>Cac		frizzled family receptor 5							28	32	30					2																	208631738		1519	3488	5007	SO:0001583	missense	7855				angiogenesis|anterior/posterior axis specification, embryo|axonogenesis|brain development|canonical Wnt receptor signaling pathway|cellular response to molecule of bacterial origin|embryonic camera-type eye development|gonad development|labyrinthine layer blood vessel development|positive regulation of interferon-gamma production|positive regulation of transcription from RNA polymerase II promoter|post-embryonic camera-type eye development|Spemann organizer formation|T cell differentiation in thymus|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	cell projection|cell surface|Golgi membrane|integral to membrane|plasma membrane	G-protein coupled receptor activity|PDZ domain binding|protein kinase binding|Wnt-protein binding	g.chr2:208631738A>G	U43318	CCDS33366.1	2q33.3	2014-01-29	2014-01-29		ENSG00000163251	ENSG00000163251		"GPCR / Class F : Frizzled receptors"	4043	protein-coding gene	gene with protein product		601723	"frizzled (Drosophila) homolog 5", "chromosome 2 open reading frame 31", "frizzled homolog 5 (Drosophila)", "frizzled 5, seven transmembrane spanning receptor", "frizzled family receptor 5"	C2orf31		8626800, 11408929	Standard	NM_003468		Approved	HFZ5, DKFZP434E2135	uc002vcj.3	Q13467	OTTHUMG00000154790	ENST00000295417.3:c.1726T>C	2.37:g.208631738A>G	ENSP00000354607:p.Tyr576His						p.Y576H	NM_003468.3	NP_003459.2	Q13467	FZD5_HUMAN		LUSC - Lung squamous cell carcinoma(261;0.0703)|Epithelial(149;0.13)|Lung(261;0.134)	2	2279	-			576					A8K2X1|B2RCZ1|Q53R22	Missense_Mutation	SNP	ENST00000295417.3	37	c.1726T>C	CCDS33366.1	.	.	.	.	.	.	.	.	.	.	A	9.414	1.081293	0.20309	.	.	ENSG00000163251	ENST00000295417	T	0.80033	-1.33	5.14	3.99	0.46301	.	0.420468	0.23295	U	0.049746	T	0.58963	0.2159	N	0.08118	0	0.43076	D	0.994722	B	0.09022	0.002	B	0.10450	0.005	T	0.48801	-0.9003	10	0.14656	T	0.56	.	8.2303	0.31595	0.8477:0.0:0.1523:0.0	.	576	Q13467	FZD5_HUMAN	H	576	ENSP00000354607:Y576H	ENSP00000354607:Y576H	Y	-	1	0	FZD5	208339983	1.000000	0.71417	0.999000	0.59377	0.987000	0.75469	3.169000	0.50809	0.983000	0.38602	0.459000	0.35465	TAC		0.726	FZD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337060.1	NM_003468		5	33	0	0	0	1	0	5	33					G	208631738	A	G	208631738	3	3	435	1	0	0	0	0	1	0	0	0	6133	420	15	4	35	4	FZD5	2	208631738	Missense_Mutation	SNP	A	TCGA-XK-AAIW-01A-11D-A41K-08	153590	208631738	34567635	1492	22417											
FZD5	7855	broad.mit.edu	37	chr2	208631911	208631911	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tgcccgaccagatccagacgCccgacgtgatgcccaccacc	9	4	9	19	4	0	3	0	1	0	2	1	5	1	3	7	0	2	0	7	0	0	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:208631911C>T	ENST00000295417.3	-	2	2106	c.1553G>A	c.(1552-1554)gGc>gAc	p.G518D		NM_003468.3	NP_003459.2	Q13467	FZD5_HUMAN	frizzled class receptor 5	518					angiogenesis (GO:0001525)|anterior/posterior axis specification, embryo (GO:0008595)|apoptotic process (GO:0006915)|apoptotic process involved in morphogenesis (GO:0060561)|axonogenesis (GO:0007409)|brain development (GO:0007420)|branching involved in labyrinthine layer morphogenesis (GO:0060670)|canonical Wnt signaling pathway (GO:0060070)|cell maturation (GO:0048469)|cellular response to molecule of bacterial origin (GO:0071219)|chorionic trophoblast cell differentiation (GO:0060718)|embryonic axis specification (GO:0000578)|embryonic camera-type eye development (GO:0031076)|gonad development (GO:0008406)|labyrinthine layer blood vessel development (GO:0060716)|negative regulation of cell proliferation (GO:0008285)|neuron differentiation (GO:0030182)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic camera-type eye development (GO:0031077)|regulation of canonical Wnt signaling pathway (GO:0060828)|regulation of chorionic trophoblast cell proliferation (GO:1901382)|regulation of tight junction assembly (GO:2000810)|Spemann organizer formation (GO:0060061)|syncytiotrophoblast cell differentiation involved in labyrinthine layer development (GO:0060715)|T cell differentiation in thymus (GO:0033077)|Wnt signaling pathway involved in dorsal/ventral axis specification (GO:0044332)	cell projection (GO:0042995)|cell surface (GO:0009986)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|protein kinase binding (GO:0019901)|ubiquitin protein ligase binding (GO:0031625)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			NS(1)|kidney(1)|lung(1)|ovary(2)|prostate(1)|skin(1)	7				LUSC - Lung squamous cell carcinoma(261;0.0703)|Epithelial(149;0.13)|Lung(261;0.134)		GATCCAGACGCCCGACGTGAT	0.706																																						ENST00000295417.3																			0				NS(1)|kidney(1)|lung(1)|ovary(2)|prostate(1)|skin(1)	7						c.(1552-1554)gGc>gAc		frizzled family receptor 5							14	10	11					2																	208631911		2158	4236	6394	SO:0001583	missense	7855				angiogenesis|anterior/posterior axis specification, embryo|axonogenesis|brain development|canonical Wnt receptor signaling pathway|cellular response to molecule of bacterial origin|embryonic camera-type eye development|gonad development|labyrinthine layer blood vessel development|positive regulation of interferon-gamma production|positive regulation of transcription from RNA polymerase II promoter|post-embryonic camera-type eye development|Spemann organizer formation|T cell differentiation in thymus|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	cell projection|cell surface|Golgi membrane|integral to membrane|plasma membrane	G-protein coupled receptor activity|PDZ domain binding|protein kinase binding|Wnt-protein binding	g.chr2:208631911C>T	U43318	CCDS33366.1	2q33.3	2014-01-29	2014-01-29		ENSG00000163251	ENSG00000163251		"GPCR / Class F : Frizzled receptors"	4043	protein-coding gene	gene with protein product		601723	"frizzled (Drosophila) homolog 5", "chromosome 2 open reading frame 31", "frizzled homolog 5 (Drosophila)", "frizzled 5, seven transmembrane spanning receptor", "frizzled family receptor 5"	C2orf31		8626800, 11408929	Standard	NM_003468		Approved	HFZ5, DKFZP434E2135	uc002vcj.3	Q13467	OTTHUMG00000154790	ENST00000295417.3:c.1553G>A	2.37:g.208631911C>T	ENSP00000354607:p.Gly518Asp						p.G518D	NM_003468.3	NP_003459.2	Q13467	FZD5_HUMAN		LUSC - Lung squamous cell carcinoma(261;0.0703)|Epithelial(149;0.13)|Lung(261;0.134)	2	2106	-			518					A8K2X1|B2RCZ1|Q53R22	Missense_Mutation	SNP	ENST00000295417.3	37	c.1553G>A	CCDS33366.1	.	.	.	.	.	.	.	.	.	.	C	24.6	4.549499	0.86127	.	.	ENSG00000163251	ENST00000295417	D	0.83755	-1.76	4.84	4.84	0.62591	GPCR, family 2-like (1);	0.000000	0.85682	D	0.000000	D	0.94165	0.8128	H	0.96489	3.83	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95951	0.8954	10	0.87932	D	0	.	18.1374	0.89624	0.0:1.0:0.0:0.0	.	518	Q13467	FZD5_HUMAN	D	518	ENSP00000354607:G518D	ENSP00000354607:G518D	G	-	2	0	FZD5	208340156	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	5.868000	0.69605	2.504000	0.84457	0.561000	0.74099	GGC		0.706	FZD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337060.1	NM_003468		4	6	0	0	0	1	0	4	6					T	208631911	C	T	208631911	3	4	435	1	0	0	0	0	1	0	0	0	6133	739	26	3	208	3	FZD5	2	208631911	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	173	208631911	34567462	1493	22418											
CRYGD	1421	broad.mit.edu	37	chr2	208986563	208986563	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcacgttgagggagtggattTcattgaagcggaagcggtcc	9	9	16	7	3	1	2	1	2	0	0	2	5	2	5	1	4	2	2	1	4	2	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:208986563T>C	ENST00000264376.4	-	3	386	c.359A>G	c.(358-360)gAa>gGa	p.E120G		NM_006891.3	NP_008822.2	P07320	CRGD_HUMAN	crystallin, gamma D	120	Beta/gamma crystallin 'Greek key' 3. {ECO:0000255|PROSITE-ProRule:PRU00028}.				cellular response to reactive oxygen species (GO:0034614)|lens development in camera-type eye (GO:0002088)|lens fiber cell differentiation (GO:0070306)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	structural constituent of eye lens (GO:0005212)			breast(1)|endometrium(1)|lung(3)	5				LUSC - Lung squamous cell carcinoma(261;0.0703)|Epithelial(149;0.0858)|Lung(261;0.133)		GGAGTGGATTTCATTGAAGCG	0.557																																						ENST00000264376.4																			0				breast(1)|endometrium(1)|lung(3)	5						c.(358-360)gAa>gGa		crystallin, gamma D							118	113	115					2																	208986563		2203	4300	6503	SO:0001583	missense	1421				cellular response to reactive oxygen species|visual perception	soluble fraction	protein binding|structural constituent of eye lens	g.chr2:208986563T>C		CCDS2378.1	2q33.3	2013-02-14			ENSG00000118231	ENSG00000118231			2411	protein-coding gene	gene with protein product		123690		CRYG4			Standard	NM_006891		Approved		uc002vcn.4	P07320	OTTHUMG00000132944	ENST00000264376.4:c.359A>G	2.37:g.208986563T>C	ENSP00000264376:p.Glu120Gly						p.E120G	NM_006891.3	NP_008822.2	P07320	CRGD_HUMAN		LUSC - Lung squamous cell carcinoma(261;0.0703)|Epithelial(149;0.0858)|Lung(261;0.133)	3	386	-			120			Beta/gamma crystallin 'Greek key' 3.		Q17RF7|Q53R51|Q99681	Missense_Mutation	SNP	ENST00000264376.4	37	c.359A>G	CCDS2378.1	.	.	.	.	.	.	.	.	.	.	T	21.0	4.085475	0.76642	.	.	ENSG00000118231	ENST00000264376	T	0.77229	-1.08	4.25	4.25	0.50352	Beta/gamma crystallin (4);Gamma-crystallin-related (1);	0.113504	0.56097	D	0.000022	D	0.86339	0.5909	M	0.85542	2.76	0.29994	N	0.816585	D	0.58268	0.982	P	0.61003	0.882	D	0.84168	0.0432	10	0.56958	D	0.05	.	11.3881	0.49798	0.0:0.0:0.0:1.0	.	120	P07320	CRGD_HUMAN	G	120	ENSP00000264376:E120G	ENSP00000264376:E120G	E	-	2	0	CRYGD	208694808	0.986000	0.35501	0.347000	0.25668	0.961000	0.63080	4.577000	0.60922	1.790000	0.52503	0.454000	0.30748	GAA		0.557	CRYGD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256476.2	NM_006891		31	58	0	0	0	1	0	31	58					C	208986563	T	C	208986563	3	2	435	1	0	0	0	0	1	0	0	0	3917	1783	62	4	169	4	CRYGD	2	208986563	Missense_Mutation	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	354652	208986563	34212810	1494	22419											
CRYGB	1419	broad.mit.edu	37	chr2	209010717	209010717	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcgtagctgcggccctggaaGgccctgtcctcgtagaaggt	6	9	14	12	3	0	1	0	0	0	1	3	2	1	2	3	4	2	3	3	4	4	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:209010717G>T	ENST00000260988.4	-	2	80	c.33C>A	c.(31-33)gcC>gcA	p.A11A		NM_005210.3	NP_005201.2	P07316	CRGB_HUMAN	crystallin, gamma B	11	Beta/gamma crystallin 'Greek key' 1. {ECO:0000255|PROSITE-ProRule:PRU00028}.				lens fiber cell morphogenesis (GO:0070309)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	structural constituent of eye lens (GO:0005212)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|stomach(1)	14				Epithelial(149;0.0641)|LUSC - Lung squamous cell carcinoma(261;0.0703)|Lung(261;0.132)		GGCCCTGGAAGGCCCTGTCCT	0.572																																						ENST00000260988.4																			0				cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|stomach(1)	14						c.(31-33)gcC>gcA		crystallin, gamma B							91	84	86					2																	209010717		2203	4300	6503	SO:0001819	synonymous_variant	1419				visual perception		structural constituent of eye lens	g.chr2:209010717G>T		CCDS2380.1	2q34	2013-02-14			ENSG00000182187	ENSG00000182187			2409	protein-coding gene	gene with protein product		123670	"crystallin, gamma 1-2"	CRYG2			Standard	NM_005210		Approved		uc002vcp.4	P07316	OTTHUMG00000132941	ENST00000260988.4:c.33C>A	2.37:g.209010717G>T							p.A11A	NM_005210.3	NP_005201.2	P07316	CRGB_HUMAN		Epithelial(149;0.0641)|LUSC - Lung squamous cell carcinoma(261;0.0703)|Lung(261;0.132)	2	80	-			11			Beta/gamma crystallin 'Greek key' 1.		Q17RB5|Q53ST2	Silent	SNP	ENST00000260988.4	37	c.33C>A	CCDS2380.1																																																																																				0.572	CRYGB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256473.2	NM_005210		24	26	1	0	5.61819e-17	1	6.17723e-17	24	26					T	209010717	G	T	209010717	2	4	435	1	0	0	0	0	0	0	0	1	3915	987	35	5		5	CRYGB	2	209010717	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	24154	209010717	34188656	1495	22420											
IDH1	3417	broad.mit.edu	37	chr2	209104660	209104660	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gttacagtcccgtgggcagcCtctgcttctactgtcttgcc	4	13	10	14	1	3	0	0	0	3	0	4	0	4	0	3	1	5	3	3	1	2	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:209104660C>A	ENST00000415913.1	-	8	1299	c.918G>T	c.(916-918)gaG>gaT	p.E306D	IDH1_ENST00000446179.1_Missense_Mutation_p.E306D|IDH1_ENST00000345146.2_Missense_Mutation_p.E306D	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	306					2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)			NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		CGTGGGCAGCCTCTGCTTCTA	0.522			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"isocitrate dehydrogenase 1 (NADP+), soluble"			O			gliobastoma		0				NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(916-918)gaG>gaT		isocitrate dehydrogenase 1 (NADP+), soluble							149	118	129					2																	209104660		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209104660C>A		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.918G>T	2.37:g.209104660C>A	ENSP00000390265:p.Glu306Asp					IDH1_ENST00000446179.1_Missense_Mutation_p.E306D|IDH1_ENST00000345146.2_Missense_Mutation_p.E306D	p.E306D			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	8	1299	-			306					Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.918G>T	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.401635	0.83120	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913	D;D;D	0.85411	-1.98;-1.98;-1.98	6.08	4.29	0.51040	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.94666	0.8280	H	0.99261	4.49	0.80722	D	1	D	0.76494	0.999	D	0.79108	0.992	D	0.93696	0.7011	10	0.87932	D	0	-13.759	5.8666	0.18779	0.0:0.66:0.0:0.34	.	306	O75874	IDHC_HUMAN	D	306	ENSP00000260985:E306D;ENSP00000410513:E306D;ENSP00000390265:E306D	ENSP00000260985:E306D	E	-	3	2	IDH1	208812905	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	1.060000	0.30530	1.592000	0.50018	-0.216000	0.12614	GAG		0.522	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			21	29	1	0	4.63292e-17	1	5.09502e-17	21	29					A	209104660	C	A	209104660	3	1	435	1	0	0	0	0	1	0	0	0	7494	680	24	5	338	5	IDH1	2	209104660	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	93943	209104660	34094713	1496	22421											
PIKFYVE	200576	broad.mit.edu	37	chr2	209167059	209167059	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cttttcagagatgagtatgcGctgtatagaccactgcaggt	10	12	11	8	1	1	3	1	1	0	2	1	4	1	3	1	1	2	4	1	1	3	5	rs377571496		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:209167059G>A	ENST00000264380.4	+	10	1460	c.1302G>A	c.(1300-1302)gcG>gcA	p.A434A	PIKFYVE_ENST00000407449.1_Silent_p.A434A|PIKFYVE_ENST00000308862.6_Silent_p.A348A|PIKFYVE_ENST00000392202.3_Silent_p.A337A	NM_015040.3	NP_055855.2	Q9Y2I7	FYV1_HUMAN	phosphoinositide kinase, FYVE finger containing	434	DEP. {ECO:0000255|PROSITE- ProRule:PRU00066}.				cellular protein metabolic process (GO:0044267)|intracellular signal transduction (GO:0035556)|myelin assembly (GO:0032288)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phospholipid metabolic process (GO:0006644)|protein localization to nucleus (GO:0034504)|retrograde transport, endosome to Golgi (GO:0042147)|small molecule metabolic process (GO:0044281)	cell-cell junction (GO:0005911)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|early endosome membrane (GO:0031901)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|late endosome membrane (GO:0031902)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|vesicle membrane (GO:0012506)	1-phosphatidylinositol-3-phosphate 5-kinase activity (GO:0000285)|1-phosphatidylinositol-4-phosphate 5-kinase activity (GO:0016308)|ATP binding (GO:0005524)|phosphatidylinositol-3,5-bisphosphate 5-phosphatase activity (GO:0043813)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(14)|kidney(6)|large_intestine(25)|lung(40)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	107						ATGAGTATGCGCTGTATAGAC	0.408																																						ENST00000264380.4																			0				NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(14)|kidney(6)|large_intestine(25)|lung(40)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	107						c.(1300-1302)gcG>gcA		phosphoinositide kinase, FYVE finger containing							118	100	106					2																	209167059		2203	4300	6503	SO:0001819	synonymous_variant	200576				cellular protein metabolic process|intracellular signal transduction|protein localization to nucleus|retrograde transport, endosome to Golgi	early endosome membrane|membrane raft	1-phosphatidylinositol-3-phosphate 5-kinase activity|1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|metal ion binding|protein binding	g.chr2:209167059G>A	AB023198	CCDS2382.1, CCDS33368.1, CCDS54431.1	2q34	2014-01-15	2009-04-17	2009-04-17	ENSG00000115020	ENSG00000115020		"Zinc fingers, FYVE domain containing"	23785	protein-coding gene	gene with protein product	"zinc finger, FYVE domain containing 29"	609414	"phosphatidylinositol-3-phosphate/phosphatidylinositol 5-kinase, type III"	PIP5K3		9858586, 12270933	Standard	NM_015040		Approved	MGC40423, KIAA0981, PIKfyve, PIP5K, p235, ZFYVE29, FAB1	uc002vcz.3	Q9Y2I7	OTTHUMG00000132945	ENST00000264380.4:c.1302G>A	2.37:g.209167059G>A						PIKFYVE_ENST00000392202.3_Silent_p.A337A|PIKFYVE_ENST00000308862.6_Silent_p.A348A|PIKFYVE_ENST00000407449.1_Silent_p.A434A	p.A434A	NM_015040.3	NP_055855.2	Q9Y2I7	FYV1_HUMAN			10	1460	+			434			DEP.		Q08AR7|Q08AR8|Q53ST3|Q53T36|Q8N5H0|Q8NB67	Silent	SNP	ENST00000264380.4	37	c.1302G>A	CCDS2382.1																																																																																				0.408	PIKFYVE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256477.2	NM_015040		4	34	0	0	0	1	0	4	34					A	209167059	G	A	209167059	2	1	435	1	0	0	0	0	0	0	0	1	11924	1074	38	1		1	PIKFYVE	2	209167059	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	62399	209167059	34032314	1497	22422											
PIKFYVE	200576	broad.mit.edu	37	chr2	209217388	209217388	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttgattagaggcccacggCgttggccaaaattcttggag	9	11	12	9	2	2	2	0	1	2	1	2	3	2	3	2	4	0	1	2	4	3	5	rs371648963		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:209217388C>T	ENST00000264380.4	+	39	5884	c.5726C>T	c.(5725-5727)gCg>gTg	p.A1909V		NM_015040.3	NP_055855.2	Q9Y2I7	FYV1_HUMAN	phosphoinositide kinase, FYVE finger containing	1909	Catalytic.|PIPK. {ECO:0000255|PROSITE- ProRule:PRU00781}.				cellular protein metabolic process (GO:0044267)|intracellular signal transduction (GO:0035556)|myelin assembly (GO:0032288)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phospholipid metabolic process (GO:0006644)|protein localization to nucleus (GO:0034504)|retrograde transport, endosome to Golgi (GO:0042147)|small molecule metabolic process (GO:0044281)	cell-cell junction (GO:0005911)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|early endosome membrane (GO:0031901)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|late endosome membrane (GO:0031902)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|vesicle membrane (GO:0012506)	1-phosphatidylinositol-3-phosphate 5-kinase activity (GO:0000285)|1-phosphatidylinositol-4-phosphate 5-kinase activity (GO:0016308)|ATP binding (GO:0005524)|phosphatidylinositol-3,5-bisphosphate 5-phosphatase activity (GO:0043813)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(14)|kidney(6)|large_intestine(25)|lung(40)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	107						AGGCCCACGGCGTTGGCCAAA	0.328																																						ENST00000264380.4																			0				NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(14)|kidney(6)|large_intestine(25)|lung(40)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	107						c.(5725-5727)gCg>gTg		phosphoinositide kinase, FYVE finger containing		C	VAL/ALA	0,4404		0,0,2202	62	65	64		5726	5.5	0.3	2		64	1,8599	1.2+/-3.3	0,1,4299	no	missense	PIKFYVE	NM_015040.3	64	0,1,6501	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	1909/2099	209217388	1,13003	2202	4300	6502	SO:0001583	missense	200576				cellular protein metabolic process|intracellular signal transduction|protein localization to nucleus|retrograde transport, endosome to Golgi	early endosome membrane|membrane raft	1-phosphatidylinositol-3-phosphate 5-kinase activity|1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|metal ion binding|protein binding	g.chr2:209217388C>T	AB023198	CCDS2382.1, CCDS33368.1, CCDS54431.1	2q34	2014-01-15	2009-04-17	2009-04-17	ENSG00000115020	ENSG00000115020		"Zinc fingers, FYVE domain containing"	23785	protein-coding gene	gene with protein product	"zinc finger, FYVE domain containing 29"	609414	"phosphatidylinositol-3-phosphate/phosphatidylinositol 5-kinase, type III"	PIP5K3		9858586, 12270933	Standard	NM_015040		Approved	MGC40423, KIAA0981, PIKfyve, PIP5K, p235, ZFYVE29, FAB1	uc002vcz.3	Q9Y2I7	OTTHUMG00000132945	ENST00000264380.4:c.5726C>T	2.37:g.209217388C>T	ENSP00000264380:p.Ala1909Val						p.A1909V	NM_015040.3	NP_055855.2	Q9Y2I7	FYV1_HUMAN			39	5884	+			1909			Catalytic.|PIPK.		Q08AR7|Q08AR8|Q53ST3|Q53T36|Q8N5H0|Q8NB67	Missense_Mutation	SNP	ENST00000264380.4	37	c.5726C>T	CCDS2382.1	.	.	.	.	.	.	.	.	.	.	C	12.59	1.983929	0.35036	0.0	1.16E-4	ENSG00000115020	ENST00000264380	T	0.27890	1.64	5.46	5.46	0.80206	Phosphatidylinositol-4-phosphate 5-kinase, core (2);Phosphatidylinositol-4-phosphate 5-kinase, core, subgroup (1);	0.051413	0.85682	D	0.000000	T	0.23649	0.0572	N	0.12611	0.24	0.80722	D	1	D	0.58268	0.982	P	0.48677	0.586	T	0.02625	-1.1132	10	0.05721	T	0.95	-8.6298	19.2883	0.94087	0.0:1.0:0.0:0.0	.	1909	Q9Y2I7	FYV1_HUMAN	V	1909	ENSP00000264380:A1909V	ENSP00000264380:A1909V	A	+	2	0	PIKFYVE	208925633	1.000000	0.71417	0.257000	0.24404	0.311000	0.27955	7.666000	0.83877	2.543000	0.85770	0.655000	0.94253	GCG		0.328	PIKFYVE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256477.2	NM_015040		19	39	0	0	0	1	0	19	39					T	209217388	C	T	209217388	3	4	435	1	0	0	0	0	1	0	0	0	11924	768	27	1	5887	1	PIKFYVE	2	209217388	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	50329	209217388	33981985	1498	22423											
MAP2	4133	broad.mit.edu	37	chr2	210559071	210559071	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcggggacatgatctttctcCtctggcttccgatattctaa	7	15	8	11	2	4	1	0	1	4	0	7	3	5	2	2	3	0	1	2	3	2	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:210559071C>A	ENST00000360351.4	+	7	2683	c.2177C>A	c.(2176-2178)cCt>cAt	p.P726H	MAP2_ENST00000447185.1_Missense_Mutation_p.P722H|MAP2_ENST00000199940.6_Intron|MAP2_ENST00000392194.1_Intron|MAP2_ENST00000361559.4_Intron	NM_002374.3	NP_002365.3	P11137	MTAP2_HUMAN	microtubule-associated protein 2	726					axonogenesis (GO:0007409)|cellular response to organic substance (GO:0071310)|central nervous system neuron development (GO:0021954)|dendrite morphogenesis (GO:0048813)|microtubule bundle formation (GO:0001578)|neuron projection development (GO:0031175)	cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|neuronal cell body (GO:0043025)|nuclear periphery (GO:0034399)	dystroglycan binding (GO:0002162)|structural molecule activity (GO:0005198)			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Docetaxel(DB01248)|Estramustine(DB01196)|Paclitaxel(DB01229)	GATCTTTCTCCTCTGGCTTCC	0.463																																					Pancreas(27;423 979 28787 29963)	ENST00000360351.4																			0				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124						c.(2176-2178)cCt>cAt		microtubule-associated protein 2	Estramustine(DB01196)						168	163	165					2																	210559071		2203	4300	6503	SO:0001583	missense	4133				central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	beta-dystroglycan binding|calmodulin binding|structural molecule activity	g.chr2:210559071C>A		CCDS2384.1, CCDS2385.1, CCDS33369.1	2q34-q35	2008-05-27			ENSG00000078018	ENSG00000078018		"A-kinase anchor proteins"	6839	protein-coding gene	gene with protein product		157130				3103857, 7479905	Standard	XM_005246554		Approved	MAP2A, MAP2B, MAP2C	uc002vde.1	P11137	OTTHUMG00000132962	ENST00000360351.4:c.2177C>A	2.37:g.210559071C>A	ENSP00000353508:p.Pro726His					MAP2_ENST00000392194.1_Intron|MAP2_ENST00000447185.1_Missense_Mutation_p.P722H|MAP2_ENST00000199940.6_Intron|MAP2_ENST00000361559.4_Intron	p.P726H	NM_002374.3	NP_002365.3	P11137	MAP2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	7	2683	+		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)	726					Q17S04|Q8IUX2|Q99975|Q99976	Missense_Mutation	SNP	ENST00000360351.4	37	c.2177C>A	CCDS2384.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.126597	0.77549	.	.	ENSG00000078018	ENST00000360351;ENST00000447185	T;T	0.29397	1.57;1.57	5.96	5.96	0.96718	MAP2/Tau projection (1);	0.000000	0.64402	D	0.000006	T	0.56934	0.2019	M	0.63843	1.955	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.55244	-0.8171	10	0.87932	D	0	-15.6531	20.4084	0.99013	0.0:1.0:0.0:0.0	.	722;726	P11137-3;P11137	.;MAP2_HUMAN	H	726;722	ENSP00000353508:P726H;ENSP00000392164:P722H	ENSP00000353508:P726H	P	+	2	0	MAP2	210267316	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.189000	0.77747	2.833000	0.97629	0.650000	0.86243	CCT		0.463	MAP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256521.2	NM_001039538		5	128	1	0	0.014758	1	0.0148771	5	128					A	210559071	C	A	210559071	3	1	435	1	0	0	0	0	1	0	0	0	9235	681	24	5	2191	5	MAP2	2	210559071	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	1341683	210559071	32640302	1499	22424											
MAP2	4133	broad.mit.edu	37	chr2	210560392	210560392	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctaattcaagatgagattgcCgtcaaattgtcagtggaaat	14	12	9	6	1	3	2	3	1	0	2	3	4	3	3	1	1	1	0	1	1	4	4	rs376049781	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:210560392C>T	ENST00000360351.4	+	7	4004	c.3498C>T	c.(3496-3498)gcC>gcT	p.A1166A	MAP2_ENST00000447185.1_Silent_p.A1162A|MAP2_ENST00000199940.6_Intron|MAP2_ENST00000392194.1_Intron|MAP2_ENST00000361559.4_Intron	NM_002374.3	NP_002365.3	P11137	MTAP2_HUMAN	microtubule-associated protein 2	1166					axonogenesis (GO:0007409)|cellular response to organic substance (GO:0071310)|central nervous system neuron development (GO:0021954)|dendrite morphogenesis (GO:0048813)|microtubule bundle formation (GO:0001578)|neuron projection development (GO:0031175)	cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|neuronal cell body (GO:0043025)|nuclear periphery (GO:0034399)	dystroglycan binding (GO:0002162)|structural molecule activity (GO:0005198)			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Docetaxel(DB01248)|Estramustine(DB01196)|Paclitaxel(DB01229)	ATGAGATTGCCGTCAAATTGT	0.458													C|||	2	0.000399361	0	0.0029	5008	,	,		20514	0		0	False		,,,				2504	0				Pancreas(27;423 979 28787 29963)	ENST00000360351.4																			0				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124						c.(3496-3498)gcC>gcT		microtubule-associated protein 2	Estramustine(DB01196)	C	,,,	0,4406		0,0,2203	70	65	67		,3498,,	0.6	0.5	2		67	1,8599	1.2+/-3.3	0,1,4299	no	intron,coding-synonymous,intron,intron	MAP2	NM_001039538.1,NM_002374.3,NM_031845.2,NM_031847.2	,,,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,,,	,1166/1828,,	210560392	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	4133				central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	beta-dystroglycan binding|calmodulin binding|structural molecule activity	g.chr2:210560392C>T		CCDS2384.1, CCDS2385.1, CCDS33369.1	2q34-q35	2008-05-27			ENSG00000078018	ENSG00000078018		"A-kinase anchor proteins"	6839	protein-coding gene	gene with protein product		157130				3103857, 7479905	Standard	XM_005246554		Approved	MAP2A, MAP2B, MAP2C	uc002vde.1	P11137	OTTHUMG00000132962	ENST00000360351.4:c.3498C>T	2.37:g.210560392C>T						MAP2_ENST00000392194.1_Intron|MAP2_ENST00000447185.1_Silent_p.A1162A|MAP2_ENST00000199940.6_Intron|MAP2_ENST00000361559.4_Intron	p.A1166A	NM_002374.3	NP_002365.3	P11137	MAP2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	7	4004	+		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)	1166					Q17S04|Q8IUX2|Q99975|Q99976	Silent	SNP	ENST00000360351.4	37	c.3498C>T	CCDS2384.1																																																																																				0.458	MAP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256521.2	NM_001039538		21	31	0	0	0	1	0	21	31					T	210560392	C	T	210560392	2	4	435	1	0	0	0	0	0	0	0	1	9235	639	23	2		2	MAP2	2	210560392	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	1321	210560392	32638981	1500	22425											
C2orf67	151050	broad.mit.edu	37	chr2	210896182	210896182	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aaatgtcttttctttcttccCtgtaacagttgtgcagaaga	10	16	7	8	0	3	2	0	0	3	2	4	2	4	2	1	0	2	3	1	0	3	6			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:210896182C>A	ENST00000281772.9	-	9	2381	c.2118G>T	c.(2116-2118)caG>caT	p.Q706H	AC007038.7_ENST00000452057.1_RNA|KANSL1L_ENST00000418791.1_Intron|RP11-260M2.1_ENST00000608095.1_RNA	NM_152519.2	NP_689732.2	A0AUZ9	KAL1L_HUMAN	KAT8 regulatory NSL complex subunit 1-like	706						histone acetyltransferase complex (GO:0000123)											TCTTTCTTCCCTGTAACAGTT	0.308																																						ENST00000281772.9																			0											c.(2116-2118)caG>caT		KAT8 regulatory NSL complex subunit 1-like							187	186	186					2																	210896182		2202	4299	6501	SO:0001583	missense	151050							g.chr2:210896182C>A	AK074441	CCDS33370.1	2q34	2012-02-20	2012-02-20	2012-02-20	ENSG00000144445	ENSG00000144445			26310	protein-coding gene	gene with protein product	"KIAA1267-like"	613833	"chromosome 2 open reading frame 67"	C2orf67		12477932	Standard	NM_152519		Approved	FLJ23861, FLJ32349, MSL1v2, KIAA1267L	uc002vds.3	A0AUZ9	OTTHUMG00000154697	ENST00000281772.9:c.2118G>T	2.37:g.210896182C>A	ENSP00000281772:p.Gln706His					KANSL1L_ENST00000418791.1_Intron|AC007038.7_ENST00000452057.1_RNA	p.Q706H	NM_152519.2	NP_689732.2	A0AUZ9	CB067_HUMAN			9	2381	-			706					B7ZLN1|I6L9A8|Q53TV8|Q53TW3|Q6IS05|Q8TCI1|Q96MI0|Q9UFC3	Missense_Mutation	SNP	ENST00000281772.9	37	c.2118G>T	CCDS33370.1	.	.	.	.	.	.	.	.	.	.	C	16.27	3.076878	0.55753	.	.	ENSG00000144445	ENST00000281772	.	.	.	5.23	3.42	0.39159	.	0.160250	0.28700	N	0.014439	T	0.65719	0.2718	L	0.53249	1.67	0.80722	D	1	D	0.64830	0.994	D	0.78314	0.991	T	0.62637	-0.6812	9	0.35671	T	0.21	.	6.9442	0.24510	0.0:0.7972:0.0:0.2028	.	706	A0AUZ9	CB067_HUMAN	H	706	.	ENSP00000281772:Q706H	Q	-	3	2	C2orf67	210604427	0.998000	0.40836	1.000000	0.80357	0.998000	0.95712	0.239000	0.18023	1.211000	0.43351	0.557000	0.71058	CAG		0.308	KANSL1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336633.3	NM_152519		8	68	1	0	5.18039e-06	1	5.37127e-06	8	68					A	210896182	C	A	210896182	3	1	435	1	0	0	0	0	1	0	0	0	2186	680	24	5	873	5	C2orf67	2	210896182	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	335790	210896182	32303191	1501	22426											
LANCL1	10314	broad.mit.edu	37	chr2	211319934	211319934	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acaaaggaaggtgatggagcGcttggttaagcagttcagac	13	8	14	6	1	1	2	1	1	0	1	1	4	1	4	0	4	2	4	0	4	3	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:211319934G>A	ENST00000443314.1	-	3	646	c.304C>T	c.(304-306)Cgc>Tgc	p.R102C	LANCL1_ENST00000431941.2_Missense_Mutation_p.R102C|LANCL1_ENST00000233714.4_Missense_Mutation_p.R102C|LANCL1_ENST00000441020.3_Missense_Mutation_p.R102C|AC007970.1_ENST00000420418.1_RNA|LANCL1_ENST00000450366.2_Missense_Mutation_p.R102C|AC007970.1_ENST00000433296.1_RNA			O43813	LANC1_HUMAN	LanC lantibiotic synthetase component C-like 1 (bacterial)	102					G-protein coupled receptor signaling pathway (GO:0007186)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)	catalytic activity (GO:0003824)|G-protein coupled receptor activity (GO:0004930)|glutathione binding (GO:0043295)|low-density lipoprotein particle receptor binding (GO:0050750)|SH3 domain binding (GO:0017124)|zinc ion binding (GO:0008270)			breast(1)|large_intestine(5)|liver(1)|lung(4)|prostate(1)	12				Epithelial(149;0.00562)|Lung(261;0.0468)|LUSC - Lung squamous cell carcinoma(261;0.0495)|all cancers(144;0.0569)		GTGATGGAGCGCTTGGTTAAG	0.483																																						ENST00000443314.1																			0				breast(1)|large_intestine(5)|liver(1)|lung(4)|prostate(1)	12						c.(304-306)Cgc>Tgc		LanC lantibiotic synthetase component C-like 1 (bacterial)							116	108	110					2																	211319934		2203	4300	6503	SO:0001583	missense	10314					cytoplasm|integral to plasma membrane|microtubule cytoskeleton|nucleus	catalytic activity|G-protein coupled receptor activity|glutathione binding|low-density lipoprotein particle receptor binding|SH3 domain binding|zinc ion binding	g.chr2:211319934G>A	Y11395	CCDS2392.1	2q33-q35	2008-05-23	2001-12-04		ENSG00000115365	ENSG00000115365			6508	protein-coding gene	gene with protein product		604155	"LanC (bacterial lantibiotic synthetase component C)-like 1"	GPR69A		9512664	Standard	NM_001136574		Approved	p40	uc010zjh.2	O43813	OTTHUMG00000132991	ENST00000443314.1:c.304C>T	2.37:g.211319934G>A	ENSP00000388713:p.Arg102Cys					AC007970.1_ENST00000433296.1_RNA|AC007970.1_ENST00000420418.1_RNA|LANCL1_ENST00000431941.2_Missense_Mutation_p.R102C|LANCL1_ENST00000441020.3_Missense_Mutation_p.R102C|LANCL1_ENST00000233714.4_Missense_Mutation_p.R102C|LANCL1_ENST00000450366.2_Missense_Mutation_p.R102C	p.R102C			O43813	LANC1_HUMAN		Epithelial(149;0.00562)|Lung(261;0.0468)|LUSC - Lung squamous cell carcinoma(261;0.0495)|all cancers(144;0.0569)	3	646	-			102						Missense_Mutation	SNP	ENST00000443314.1	37	c.304C>T	CCDS2392.1	.	.	.	.	.	.	.	.	.	.	G	33	5.195321	0.94960	.	.	ENSG00000115365	ENST00000443314;ENST00000441020;ENST00000450366;ENST00000233714;ENST00000431941;ENST00000448951	T;T;T;T;T;T	0.43688	0.94;0.94;0.94;0.94;0.94;0.94	5.65	5.65	0.86999	Six-hairpin glycosidase-like (1);	0.183617	0.64402	D	0.000010	T	0.66674	0.2813	M	0.91872	3.25	0.80722	D	1	D	0.63880	0.993	P	0.52454	0.699	T	0.74839	-0.3528	10	0.87932	D	0	.	19.9142	0.97043	0.0:0.0:1.0:0.0	.	102	O43813	LANC1_HUMAN	C	102	ENSP00000388713:R102C;ENSP00000393323:R102C;ENSP00000393597:R102C;ENSP00000233714:R102C;ENSP00000397646:R102C;ENSP00000396518:R102C	ENSP00000233714:R102C	R	-	1	0	LANCL1	211028179	1.000000	0.71417	0.994000	0.49952	0.945000	0.59286	4.731000	0.62022	2.941000	0.99782	0.655000	0.94253	CGC		0.483	LANCL1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336817.1	NM_006055		28	39	0	0	0	1	0	28	39					A	211319934	G	A	211319934	3	1	435	1	0	0	0	0	1	0	0	0	8620	1087	38	1	923	1	LANCL1	2	211319934	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	423752	211319934	31879439	1502	22427											
IKZF2	22807	broad.mit.edu	37	chr2	213921699	213921699	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttcctgttgtcagccacctcGctgctctcaattaggggttc	5	14	9	13	1	2	0	2	0	1	0	6	0	3	0	3	2	2	4	3	2	2	4	rs374835918		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:213921699G>A	ENST00000434687.1	-	5	573	c.264C>T	c.(262-264)agC>agT	p.S88S	IKZF2_ENST00000374319.4_Silent_p.S88S|IKZF2_ENST00000342002.2_Silent_p.S94S|IKZF2_ENST00000451136.2_Silent_p.S88S|IKZF2_ENST00000413091.3_Silent_p.S88S|IKZF2_ENST00000457361.1_Silent_p.S88S|IKZF2_ENST00000421754.2_Silent_p.S88S|IKZF2_ENST00000374327.4_Intron			Q9UKS7	IKZF2_HUMAN	IKAROS family zinc finger 2 (Helios)	88					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Esophageal squamous(248;0.0559)|Renal(323;0.218)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;2.97e-07)|all cancers(144;1.53e-05)|LUSC - Lung squamous cell carcinoma(224;0.00599)|Lung(261;0.00792)		CAGCCACCTCGCTGCTCTCAA	0.527																																						ENST00000457361.1																			0				NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						c.(262-264)agC>agT		IKAROS family zinc finger 2 (Helios)		G	,	0,4406		0,0,2203	122	110	114		264,264	3.9	1	2		114	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	IKZF2	NM_001079526.1,NM_016260.2	,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,	88/501,88/527	213921699	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	22807				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr2:213921699G>A	AF130863	CCDS2395.1, CCDS46507.1	2q13.1	2013-01-08	2006-08-25	2006-08-25	ENSG00000030419	ENSG00000030419		"Zinc fingers, C2H2-type", "IKAROS zinc fingers"	13177	protein-coding gene	gene with protein product		606234	"zinc finger protein, subfamily 1A, 2 (Helios)"	ZNFN1A2		9512513, 9560339	Standard	NM_001079526		Approved	Helios	uc002vem.3	Q9UKS7	OTTHUMG00000133005	ENST00000434687.1:c.264C>T	2.37:g.213921699G>A						IKZF2_ENST00000421754.2_Silent_p.S88S|IKZF2_ENST00000374327.4_Intron|IKZF2_ENST00000434687.1_Silent_p.S88S|IKZF2_ENST00000342002.2_Silent_p.S94S|IKZF2_ENST00000451136.2_Silent_p.S88S|IKZF2_ENST00000413091.3_Silent_p.S88S|IKZF2_ENST00000374319.4_Silent_p.S88S	p.S88S	NM_016260.2	NP_057344.2	Q9UKS7	IKZF2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;2.97e-07)|all cancers(144;1.53e-05)|LUSC - Lung squamous cell carcinoma(224;0.00599)|Lung(261;0.00792)	4	432	-		Esophageal squamous(248;0.0559)|Renal(323;0.218)	88					Q53YJ5|Q6PQC5|Q6PQC6|Q6PQC7|Q6PQC8|Q6PQD0|Q6PQD1|Q8N6S1	Silent	SNP	ENST00000434687.1	37	c.264C>T	CCDS2395.1																																																																																				0.527	IKZF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256593.3	NM_016260		22	34	0	0	0	1	0	22	34					A	213921699	G	A	213921699	2	1	435	1	0	0	0	0	0	0	0	1	7615	1078	38	1		1	IKZF2	2	213921699	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	2601765	213921699	29277674	1503	22428											
SPAG16	79582	broad.mit.edu	37	chr2	215013934	215013934	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctttcggaagctgttaccaaTtgtgtccatcgatataggtc	9	14	9	9	2	0	0	0	0	0	0	4	2	1	1	2	2	2	2	2	2	5	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:215013934T>G	ENST00000331683.5	+	15	1759	c.1664T>G	c.(1663-1665)aTt>aGt	p.I555S	SPAG16_ENST00000374309.3_Missense_Mutation_p.I461S	NM_024532.4	NP_078808.3	Q8N0X2	SPG16_HUMAN	sperm associated antigen 16	555					cilium assembly (GO:0042384)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|microtubule cytoskeleton (GO:0015630)|motile cilium (GO:0031514)|nucleus (GO:0005634)				endometrium(4)|kidney(1)|large_intestine(15)|lung(27)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	56		Renal(323;0.00461)		UCEC - Uterine corpus endometrioid carcinoma (47;0.0525)|Epithelial(149;7.07e-07)|all cancers(144;7.96e-05)|Lung(261;0.00255)|LUSC - Lung squamous cell carcinoma(224;0.00599)		CTGTTACCAATTGTGTCCATC	0.383																																						ENST00000331683.5																			0				endometrium(4)|kidney(1)|large_intestine(15)|lung(27)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	56						c.(1663-1665)aTt>aGt		sperm associated antigen 16							172	170	170					2																	215013934		2203	4300	6503	SO:0001583	missense	79582				cilium assembly	cilium axoneme|flagellar axoneme		g.chr2:215013934T>G	AF310672	CCDS2396.1, CCDS46508.1	2q34	2013-05-21			ENSG00000144451	ENSG00000144451		"WD repeat domain containing"	23225	protein-coding gene	gene with protein product		612173				12391165, 11867345	Standard	NM_024532		Approved	PF20, FLJ22724, DKFZp666P1710, WDR29	uc002veq.4	Q8N0X2	OTTHUMG00000133015	ENST00000331683.5:c.1664T>G	2.37:g.215013934T>G	ENSP00000332592:p.Ile555Ser					SPAG16_ENST00000374309.3_Missense_Mutation_p.I461S	p.I555S	NM_024532.4	NP_078808.3	Q8N0X2	SPG16_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (47;0.0525)|Epithelial(149;7.07e-07)|all cancers(144;7.96e-05)|Lung(261;0.00255)|LUSC - Lung squamous cell carcinoma(224;0.00599)	15	1759	+		Renal(323;0.00461)	555					Q498B7|Q658W1|Q68DB3|Q6I9Z6|Q8N9C7|Q9H601	Missense_Mutation	SNP	ENST00000331683.5	37	c.1664T>G	CCDS2396.1	.	.	.	.	.	.	.	.	.	.	T	11.31	1.600643	0.28534	.	.	ENSG00000144451	ENST00000331683;ENST00000374309;ENST00000451561	D;D;D	0.82255	-1.59;-1.59;-1.58	5.73	5.73	0.89815	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.402345	0.23738	N	0.045050	D	0.84343	0.5451	M	0.62723	1.935	0.39489	D	0.968017	B;P;B;B	0.49783	0.361;0.928;0.021;0.361	B;P;B;B	0.48270	0.203;0.572;0.019;0.203	D	0.84211	0.0456	10	0.33141	T	0.24	.	15.2933	0.73882	0.0:0.0:0.0:1.0	.	461;406;495;555	B4DYB5;Q8N0X2-2;Q4G1A2;Q8N0X2	.;.;.;SPG16_HUMAN	S	555;461;179	ENSP00000332592:I555S;ENSP00000363428:I461S;ENSP00000416600:I179S	ENSP00000332592:I555S	I	+	2	0	SPAG16	214722179	1.000000	0.71417	0.988000	0.46212	0.855000	0.48748	5.096000	0.64535	2.308000	0.77769	0.533000	0.62120	ATT		0.383	SPAG16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256601.2	NM_024532		44	77	0	0	0	1	0	44	77					G	215013934	T	G	215013934	3	3	435	1	0	0	0	0	1	0	0	0	14978	1493	52	5	1738	5	SPAG16	2	215013934	Missense_Mutation	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	1092235	215013934	28185439	1504	22429											
BARD1	580	broad.mit.edu	37	chr2	215645655	215645655	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ttttccattattttctaatgGcaaagatttcttagatgtaa	12	19	5	5	0	2	2	0	0	2	2	3	2	3	2	1	1	0	2	1	1	5	9			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:215645655G>A	ENST00000260947.4	-	4	1077	c.943C>T	c.(943-945)Cca>Tca	p.P315S	BARD1_ENST00000471787.1_5'UTR|BARD1_ENST00000449967.2_Missense_Mutation_p.P171S	NM_000465.2|NM_001282543.1|NM_001282545.1|NM_001282548.1	NP_000456.2|NP_001269472.1|NP_001269474.1|NP_001269477.1	Q99728	BARD1_HUMAN	BRCA1 associated RING domain 1	315					cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|negative regulation of apoptotic process (GO:0043066)|negative regulation of mRNA 3'-end processing (GO:0031441)|negative regulation of protein export from nucleus (GO:0046826)|positive regulation of apoptotic process (GO:0043065)|positive regulation of protein catabolic process (GO:0045732)|protein K6-linked ubiquitination (GO:0085020)|protein ubiquitination (GO:0016567)|regulation of phosphorylation (GO:0042325)|tissue homeostasis (GO:0001894)	BRCA1-A complex (GO:0070531)|BRCA1-BARD1 complex (GO:0031436)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	kinase binding (GO:0019900)|ligase activity (GO:0016874)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|RNA binding (GO:0003723)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(2)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|prostate(4)|upper_aerodigestive_tract(1)	35		Renal(323;0.0243)		Epithelial(149;3.2e-06)|all cancers(144;0.000461)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		TTTTCTAATGGCAAAGATTTC	0.398									Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome																													ENST00000260947.4																			0				NS(2)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|prostate(4)|upper_aerodigestive_tract(1)	35						c.(943-945)Cca>Tca		BRCA1 associated RING domain 1							85	85	85					2																	215645655		2203	4299	6502	SO:0001583	missense	580	Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome	Familial Cancer Database	Familial Neuroblastoma;CCHS, Ondine Curse, incl. Ondine-Hirschsprung Disease	cell cycle arrest|DNA repair|negative regulation of apoptosis|negative regulation of mRNA 3'-end processing|negative regulation of protein export from nucleus|positive regulation of apoptosis|positive regulation of protein catabolic process|protein K6-linked ubiquitination|regulation of phosphorylation|tissue homeostasis	BRCA1-A complex|BRCA1-BARD1 complex|cytoplasm	kinase binding|protein heterodimerization activity|protein homodimerization activity|RNA binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr2:215645655G>A		CCDS2397.1, CCDS74645.1, CCDS74646.1, CCDS74647.1, CCDS74648.1	2q34-q35	2013-01-10			ENSG00000138376	ENSG00000138376		"Ankyrin repeat domain containing"	952	protein-coding gene	gene with protein product		601593				8944023, 9425226, 15159397	Standard	NM_001282548		Approved		uc002veu.2	Q99728	OTTHUMG00000133016	ENST00000260947.4:c.943C>T	2.37:g.215645655G>A	ENSP00000260947:p.Pro315Ser					BARD1_ENST00000471787.1_5'UTR|BARD1_ENST00000449967.2_Missense_Mutation_p.P171S	p.P315S	NM_000465.2	NP_000456.2	Q99728	BARD1_HUMAN		Epithelial(149;3.2e-06)|all cancers(144;0.000461)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)	4	1077	-		Renal(323;0.0243)	315					F6MDH7|F6MDH8|F6MDH9|O43574|Q53SS5	Missense_Mutation	SNP	ENST00000260947.4	37	c.943C>T	CCDS2397.1	.	.	.	.	.	.	.	.	.	.	G	10.03	1.238327	0.22711	.	.	ENSG00000138376	ENST00000260947;ENST00000449967	T;T	0.72942	-0.7;-0.14	5.25	-0.277	0.12898	.	0.444056	0.23975	N	0.042733	T	0.56834	0.2012	L	0.56769	1.78	0.09310	N	1	B;B	0.24426	0.103;0.022	B;B	0.24848	0.056;0.005	T	0.46857	-0.9161	10	0.40728	T	0.16	-0.1428	0.8746	0.01221	0.1831:0.2627:0.2873:0.2668	.	171;315	E7EUI3;Q99728	.;BARD1_HUMAN	S	315;171	ENSP00000260947:P315S;ENSP00000406752:P171S	ENSP00000260947:P315S	P	-	1	0	BARD1	215353900	0.202000	0.23423	0.002000	0.10522	0.006000	0.05464	0.855000	0.27805	-0.277000	0.09193	-0.136000	0.14681	CCA		0.398	BARD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256602.1	NM_000465		31	74	0	0	0	1	0	31	74					A	215645655	G	A	215645655	3	1	435	1	0	0	0	0	1	0	0	0	1312	1203	42	3	1422	3	BARD1	2	215645655	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	631721	215645655	27553718	1505	22430											
ATIC	471	broad.mit.edu	37	chr2	216211645	216211645	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caatgccatcgatcaatatgTgactggaaccattggcgagg	12	9	11	9	2	1	1	1	1	0	0	2	4	1	2	2	3	2	0	2	3	4	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:216211645T>C	ENST00000236959.9	+	14	1810	c.1484T>C	c.(1483-1485)gTg>gCg	p.V495A	ATIC_ENST00000435675.1_Missense_Mutation_p.V494A|ATIC_ENST00000540518.1_Missense_Mutation_p.V436A	NM_004044.6	NP_004035.2	P31939	PUR9_HUMAN	5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase	495					'de novo' IMP biosynthetic process (GO:0006189)|brainstem development (GO:0003360)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|dihydrofolate metabolic process (GO:0046452)|nucleobase-containing compound metabolic process (GO:0006139)|nucleobase-containing small molecule metabolic process (GO:0055086)|nucleoside metabolic process (GO:0009116)|organ regeneration (GO:0031100)|purine nucleobase metabolic process (GO:0006144)|purine ribonucleoside monophosphate biosynthetic process (GO:0009168)|response to inorganic substance (GO:0010035)|small molecule metabolic process (GO:0044281)|tetrahydrofolate biosynthetic process (GO:0046654)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)	IMP cyclohydrolase activity (GO:0003937)|phosphoribosylaminoimidazolecarboxamide formyltransferase activity (GO:0004643)|protein homodimerization activity (GO:0042803)		ATIC/ALK(24)	large_intestine(2)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	8		Renal(323;0.229)		Epithelial(149;2.02e-06)|all cancers(144;0.000316)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.0097)	Methotrexate(DB00563)|Pemetrexed(DB00642)|Tetrahydrofolic acid(DB00116)	GATCAATATGTGACTGGAACC	0.418			T	ALK	ALCL																																	ENST00000435675.1				Dom	yes		2	2q35	471	T	5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase			L	ALK		ALCL	ATIC/ALK(24)	0				large_intestine(2)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	8						c.(1480-1482)gTg>gCg		5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase	Tetrahydrofolic acid(DB00116)						142	133	136					2																	216211645		2203	4300	6503	SO:0001583	missense	471				IMP biosynthetic process|purine base metabolic process	cytosol	IMP cyclohydrolase activity|phosphoribosylaminoimidazolecarboxamide formyltransferase activity|protein homodimerization activity	g.chr2:216211645T>C		CCDS2398.1	2q35	2010-04-27			ENSG00000138363	ENSG00000138363	2.1.2.3, 3.5.4.10		794	protein-coding gene	gene with protein product	"phosphoribosylaminoimidazolecarboxamide formyltransferase/IMP cyclohydrolase"	601731				8567683, 9378707	Standard	NM_004044		Approved	PURH, AICARFT, IMPCHASE	uc002vex.4	P31939	OTTHUMG00000133023	ENST00000236959.9:c.1484T>C	2.37:g.216211645T>C	ENSP00000236959:p.Val495Ala					ATIC_ENST00000236959.9_Missense_Mutation_p.V495A|ATIC_ENST00000540518.1_Missense_Mutation_p.V436A	p.V494A			P31939	PUR9_HUMAN		Epithelial(149;2.02e-06)|all cancers(144;0.000316)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.0097)	13	1872	+		Renal(323;0.229)	495					A8K202|E9PBU3|Q13856|Q53S28	Missense_Mutation	SNP	ENST00000236959.9	37	c.1481T>C	CCDS2398.1	.	.	.	.	.	.	.	.	.	.	T	25.6	4.651734	0.88056	.	.	ENSG00000138363	ENST00000236959;ENST00000540518;ENST00000435675	T;T;T	0.77098	-1.07;-1.07;-1.07	5.86	5.86	0.93980	AICAR transformylase, insert domain (1);Cytidine deaminase-like (1);	0.000000	0.85682	D	0.000000	D	0.84884	0.5571	L	0.55017	1.72	0.80722	D	1	D;D	0.59767	0.986;0.96	D;P	0.63703	0.917;0.877	D	0.86216	0.1628	10	0.87932	D	0	-28.664	16.5602	0.84551	0.0:0.0:0.0:1.0	.	494;495	E9PBU3;P31939	.;PUR9_HUMAN	A	495;436;494	ENSP00000236959:V495A;ENSP00000440523:V436A;ENSP00000415935:V494A	ENSP00000236959:V495A	V	+	2	0	ATIC	215919890	1.000000	0.71417	1.000000	0.80357	0.877000	0.50540	7.939000	0.87685	2.367000	0.80283	0.528000	0.53228	GTG		0.418	ATIC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256610.1	NM_004044		12	17	0	0	0	1	0	12	17					C	216211645	T	C	216211645	3	2	435	1	0	0	0	0	1	0	0	0	1105	1696	59	4	1538	4	ATIC	2	216211645	Missense_Mutation	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	565990	216211645	26987728	1506	22431											
ATIC	471	broad.mit.edu	37	chr2	216214268	216214268	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	acttcccccagagtggtgtgGcgtacattgcggctccctcc	5	10	11	15	2	0	1	0	0	0	1	3	1	3	1	4	3	2	2	4	3	1	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:216214268G>A	ENST00000236959.9	+	16	1995	c.1669G>A	c.(1669-1671)Gcg>Acg	p.A557T	ATIC_ENST00000435675.1_Missense_Mutation_p.A556T|ATIC_ENST00000540518.1_Missense_Mutation_p.A498T	NM_004044.6	NP_004035.2	P31939	PUR9_HUMAN	5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase	557					'de novo' IMP biosynthetic process (GO:0006189)|brainstem development (GO:0003360)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|dihydrofolate metabolic process (GO:0046452)|nucleobase-containing compound metabolic process (GO:0006139)|nucleobase-containing small molecule metabolic process (GO:0055086)|nucleoside metabolic process (GO:0009116)|organ regeneration (GO:0031100)|purine nucleobase metabolic process (GO:0006144)|purine ribonucleoside monophosphate biosynthetic process (GO:0009168)|response to inorganic substance (GO:0010035)|small molecule metabolic process (GO:0044281)|tetrahydrofolate biosynthetic process (GO:0046654)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)	IMP cyclohydrolase activity (GO:0003937)|phosphoribosylaminoimidazolecarboxamide formyltransferase activity (GO:0004643)|protein homodimerization activity (GO:0042803)		ATIC/ALK(24)	large_intestine(2)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	8		Renal(323;0.229)		Epithelial(149;2.02e-06)|all cancers(144;0.000316)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.0097)	Methotrexate(DB00563)|Pemetrexed(DB00642)|Tetrahydrofolic acid(DB00116)	GAGTGGTGTGGCGTACATTGC	0.463			T	ALK	ALCL																																	ENST00000435675.1				Dom	yes		2	2q35	471	T	5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase			L	ALK		ALCL	ATIC/ALK(24)	0				large_intestine(2)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	8						c.(1666-1668)Gcg>Acg		5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase	Tetrahydrofolic acid(DB00116)						113	103	107					2																	216214268		2203	4300	6503	SO:0001583	missense	471				IMP biosynthetic process|purine base metabolic process	cytosol	IMP cyclohydrolase activity|phosphoribosylaminoimidazolecarboxamide formyltransferase activity|protein homodimerization activity	g.chr2:216214268G>A		CCDS2398.1	2q35	2010-04-27			ENSG00000138363	ENSG00000138363	2.1.2.3, 3.5.4.10		794	protein-coding gene	gene with protein product	"phosphoribosylaminoimidazolecarboxamide formyltransferase/IMP cyclohydrolase"	601731				8567683, 9378707	Standard	NM_004044		Approved	PURH, AICARFT, IMPCHASE	uc002vex.4	P31939	OTTHUMG00000133023	ENST00000236959.9:c.1669G>A	2.37:g.216214268G>A	ENSP00000236959:p.Ala557Thr					ATIC_ENST00000236959.9_Missense_Mutation_p.A557T|ATIC_ENST00000540518.1_Missense_Mutation_p.A498T	p.A556T			P31939	PUR9_HUMAN		Epithelial(149;2.02e-06)|all cancers(144;0.000316)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.0097)	15	2057	+		Renal(323;0.229)	557					A8K202|E9PBU3|Q13856|Q53S28	Missense_Mutation	SNP	ENST00000236959.9	37	c.1666G>A	CCDS2398.1	.	.	.	.	.	.	.	.	.	.	G	12.76	2.034226	0.35893	.	.	ENSG00000138363	ENST00000236959;ENST00000540518;ENST00000435675;ENST00000442048	T;T;T;T	0.75589	-0.95;-0.95;-0.95;-0.95	5.98	5.1	0.69264	AICAR transformylase domain (1);Cytidine deaminase-like (1);	0.332724	0.34986	N	0.003522	T	0.46151	0.1378	N	0.02708	-0.52	0.34274	D	0.681386	B;B	0.16802	0.019;0.007	B;B	0.16289	0.015;0.01	T	0.53092	-0.8487	10	0.13853	T	0.58	-9.5537	8.9023	0.35501	0.0809:0.2725:0.6466:0.0	.	556;557	E9PBU3;P31939	.;PUR9_HUMAN	T	557;498;556;72	ENSP00000236959:A557T;ENSP00000440523:A498T;ENSP00000415935:A556T;ENSP00000391399:A72T	ENSP00000236959:A557T	A	+	1	0	ATIC	215922513	1.000000	0.71417	0.996000	0.52242	0.268000	0.26511	3.145000	0.50623	2.835000	0.97688	0.650000	0.86243	GCG		0.463	ATIC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256610.1	NM_004044		6	42	0	0	0	1	0	6	42					A	216214268	G	A	216214268	3	1	435	1	0	0	0	0	1	0	0	0	1105	1203	42	3	1731	3	ATIC	2	216214268	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	2623	216214268	26985105	1507	22432											
PECR	55825	broad.mit.edu	37	chr2	216923661	216923661	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtagggacaatgatattgaCgatagatcctccatgctctt	12	12	9	8	1	1	3	0	2	1	1	3	5	3	4	2	1	1	2	2	1	4	5	rs138408075		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:216923661C>T	ENST00000265322.7	-	4	537	c.463G>A	c.(463-465)Gtc>Atc	p.V155I	PECR_ENST00000497889.1_5'UTR	NM_018441.5	NP_060911.2	Q9BY49	PECR_HUMAN	peroxisomal trans-2-enoyl-CoA reductase	155					fatty acid biosynthetic process (GO:0006633)|oxidation-reduction process (GO:0055114)|phytol metabolic process (GO:0033306)	intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	receptor binding (GO:0005102)|trans-2-enoyl-CoA reductase (NADPH) activity (GO:0019166)			endometrium(2)|kidney(1)|liver(1)|lung(9)|stomach(1)	14		Renal(323;0.0327)		Epithelial(149;3.8e-06)|all cancers(144;0.000272)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Adenine(DB00173)	ATGATATTGACGATAGATCCT	0.383													C|||	1	0.000199681	8e-04	0	5008	,	,		19079	0		0	False		,,,				2504	0					ENST00000265322.7																			0				endometrium(2)|kidney(1)|liver(1)|lung(9)|stomach(1)	14						c.(463-465)Gtc>Atc		peroxisomal trans-2-enoyl-CoA reductase	Adenine(DB00173)	C	ILE/VAL	1,4405	2.1+/-5.4	0,1,2202	125	120	121		463	5.8	1	2	dbSNP_134	121	0,8600		0,0,4300	no	missense	PECR	NM_018441.5	29	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	155/304	216923661	1,13005	2203	4300	6503	SO:0001583	missense	55825				fatty acid biosynthetic process|regulation of apoptosis	peroxisome	binding|trans-2-enoyl-CoA reductase (NADPH) activity	g.chr2:216923661C>T	AF119841	CCDS33375.1	2q35	2011-09-14			ENSG00000115425	ENSG00000115425	1.3.1.38	"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"	18281	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 29C, member 1"	605843				10811639, 11669066, 19027726	Standard	NM_018441		Approved	HSA250303, TERP, SDR29C1	uc002vft.3	Q9BY49	OTTHUMG00000154825	ENST00000265322.7:c.463G>A	2.37:g.216923661C>T	ENSP00000265322:p.Val155Ile					PECR_ENST00000497889.1_5'UTR	p.V155I	NM_018441.5	NP_060911.2	Q9BY49	PECR_HUMAN		Epithelial(149;3.8e-06)|all cancers(144;0.000272)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	4	537	-		Renal(323;0.0327)	155					B2RE42|Q53TC4|Q6IAK9|Q9NRD4|Q9NY60|Q9P1A4	Missense_Mutation	SNP	ENST00000265322.7	37	c.463G>A	CCDS33375.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	27.7	4.852657	0.91355	2.27E-4	0.0	ENSG00000115425	ENST00000265322	T	0.24538	1.85	5.77	5.77	0.91146	NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	T	0.39572	0.1083	L	0.33624	1.015	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.03287	-1.1052	10	0.17369	T	0.5	.	17.4781	0.87666	0.0:1.0:0.0:0.0	.	155;9	Q9BY49;Q9BY49-2	PECR_HUMAN;.	I	155	ENSP00000265322:V155I	ENSP00000265322:V155I	V	-	1	0	PECR	216631906	1.000000	0.71417	1.000000	0.80357	0.718000	0.41266	5.334000	0.65923	2.723000	0.93209	0.591000	0.81541	GTC		0.383	PECR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337277.1	NM_018441		12	32	0	0	0	1	0	12	32					T	216923661	C	T	216923661	3	4	435	1	0	0	0	0	1	0	0	0	11717	536	19	1	468	1	PECR	2	216923661	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	709393	216923661	26275712	1508	22433											
TMEM169	92691	broad.mit.edu	37	chr2	216965056	216965056	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cttcttccctcggcctctacGctgctgtggtccagctctcg	2	13	9	17	3	3	0	0	0	3	0	7	0	5	0	3	2	3	3	3	2	1	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:216965056G>A	ENST00000295658.4	+	3	892	c.685G>A	c.(685-687)Gct>Act	p.A229T	TMEM169_ENST00000437356.2_Missense_Mutation_p.A229T|TMEM169_ENST00000454545.1_Missense_Mutation_p.A229T|TMEM169_ENST00000406027.2_Missense_Mutation_p.A229T	NM_001142311.1|NM_001142312.1|NM_138390.3	NP_001135783.1|NP_001135784.1|NP_612399.1	Q96HH4	TM169_HUMAN	transmembrane protein 169	229						integral component of membrane (GO:0016021)				breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(2)	13		Renal(323;0.0651)		Epithelial(149;6.44e-06)|all cancers(144;0.000398)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CGGCCTCTACGCTGCTGTGGT	0.577																																						ENST00000454545.1																			0				breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(2)	13						c.(685-687)Gct>Act		transmembrane protein 169							231	183	199					2																	216965056		2203	4300	6503	SO:0001583	missense	92691					integral to membrane		g.chr2:216965056G>A	AK091582	CCDS2401.1	2q35	2008-02-05			ENSG00000163449	ENSG00000163449			25130	protein-coding gene	gene with protein product						12477932	Standard	NM_001142310		Approved	FLJ34263	uc002vfv.4	Q96HH4	OTTHUMG00000133053	ENST00000295658.4:c.685G>A	2.37:g.216965056G>A	ENSP00000295658:p.Ala229Thr					TMEM169_ENST00000295658.4_Missense_Mutation_p.A229T|TMEM169_ENST00000437356.2_Missense_Mutation_p.A229T|TMEM169_ENST00000406027.2_Missense_Mutation_p.A229T	p.A229T	NM_001142310.1	NP_001135782.1	Q96HH4	TM169_HUMAN		Epithelial(149;6.44e-06)|all cancers(144;0.000398)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	4	1011	+		Renal(323;0.0651)	229					B2R8W6	Missense_Mutation	SNP	ENST00000295658.4	37	c.685G>A	CCDS2401.1	.	.	.	.	.	.	.	.	.	.	G	13.00	2.105192	0.37145	.	.	ENSG00000163449	ENST00000454545;ENST00000437356;ENST00000295658;ENST00000406027	.	.	.	4.93	4.93	0.64822	.	0.167251	0.53938	D	0.000044	T	0.34135	0.0887	L	0.35854	1.095	0.38017	D	0.934716	B	0.31817	0.341	B	0.19148	0.024	T	0.29640	-1.0005	8	.	.	.	-15.1008	6.3799	0.21529	0.091:0.0:0.713:0.196	.	229	Q96HH4	TM169_HUMAN	T	229	.	.	A	+	1	0	TMEM169	216673301	1.000000	0.71417	0.999000	0.59377	0.537000	0.34900	3.908000	0.56355	2.550000	0.86006	0.655000	0.94253	GCT		0.577	TMEM169-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256666.2	NM_138390		45	65	0	0	0	1	0	45	65					A	216965056	G	A	216965056	3	1	435	1	0	0	0	0	1	0	0	0	16081	1087	38	1	691	1	TMEM169	2	216965056	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	41395	216965056	26234317	1509	22434											
MARCH4	57574	broad.mit.edu	37	chr2	217124369	217124369	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cctgccaccgtttaaagatgCggtacaccgagggtccttca	9	9	10	13	3	1	1	1	0	0	1	2	2	2	1	5	2	3	2	5	2	3	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:217124369C>T	ENST00000273067.4	-	4	2665	c.899G>A	c.(898-900)cGc>cAc	p.R300H	AC012513.6_ENST00000417481.1_RNA	NM_020814.2	NP_065865.1	Q9P2E8	MARH4_HUMAN	membrane-associated ring finger (C3HC4) 4, E3 ubiquitin protein ligase	300						Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)|trans-Golgi network (GO:0005802)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(1)	20		Renal(323;0.0854)		Epithelial(149;2.19e-05)|all cancers(144;0.00121)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(261;0.0125)		TTTAAAGATGCGGTACACCGA	0.542																																						ENST00000273067.4																			0				breast(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(1)	20						c.(898-900)cGc>cAc		membrane-associated ring finger (C3HC4) 4, E3 ubiquitin protein ligase							70	60	64					2																	217124369		2203	4300	6503	SO:0001583	missense	57574					Golgi membrane|Golgi stack|integral to membrane|trans-Golgi network	ubiquitin-protein ligase activity|zinc ion binding	g.chr2:217124369C>T	AB037820	CCDS33376.1	2q35	2013-01-09	2012-02-23		ENSG00000144583	ENSG00000144583		"MARCH membrane-associated ring fingers", "RING-type (C3HC4) zinc fingers"	29269	protein-coding gene	gene with protein product		608208	"membrane-associated ring finger (C3HC4) 4"			10718198, 14722266	Standard	NM_020814		Approved	KIAA1399, MARCH-IV, RNF174	uc002vgb.3	Q9P2E8	OTTHUMG00000154824	ENST00000273067.4:c.899G>A	2.37:g.217124369C>T	ENSP00000273067:p.Arg300His					AC012513.6_ENST00000417481.1_RNA	p.R300H	NM_020814.2	NP_065865.1	Q9P2E8	MARH4_HUMAN		Epithelial(149;2.19e-05)|all cancers(144;0.00121)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(261;0.0125)	4	2665	-		Renal(323;0.0854)	300					Q4KMN7|Q86WR8	Missense_Mutation	SNP	ENST00000273067.4	37	c.899G>A	CCDS33376.1	.	.	.	.	.	.	.	.	.	.	C	34	5.321584	0.95682	.	.	ENSG00000144583	ENST00000273067	T	0.60424	0.19	5.21	5.21	0.72293	.	0.104769	0.64402	D	0.000002	T	0.75162	0.3812	M	0.68952	2.095	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.76353	-0.2990	10	0.56958	D	0.05	-13.8759	18.1153	0.89552	0.0:1.0:0.0:0.0	.	300	Q9P2E8	MARH4_HUMAN	H	300	ENSP00000273067:R300H	ENSP00000273067:R300H	R	-	2	0	MARCH4	216832614	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.776000	0.85560	2.590000	0.87494	0.561000	0.74099	CGC		0.542	MARCH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337272.2	NM_020814		8	10	0	0	0	1	0	8	10					T	217124369	C	T	217124369	3	4	435	1	0	0	0	0	1	0	0	0	9303	768	27	1	337	1	MARCH4	2	217124369	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	159313	217124369	26075004	1510	22435											
MARCH4	57574	broad.mit.edu	37	chr2	217234544	217234544	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agctgctgcccagtgagtagCgatcctcggtcttctcctta	6	12	10	13	2	2	1	0	1	2	0	5	2	3	1	3	1	4	3	3	1	2	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:217234544C>T	ENST00000273067.4	-	1	2206	c.440G>A	c.(439-441)cGc>cAc	p.R147H		NM_020814.2	NP_065865.1	Q9P2E8	MARH4_HUMAN	membrane-associated ring finger (C3HC4) 4, E3 ubiquitin protein ligase	147						Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)|trans-Golgi network (GO:0005802)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(1)	20		Renal(323;0.0854)		Epithelial(149;2.19e-05)|all cancers(144;0.00121)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(261;0.0125)		CAGTGAGTAGCGATCCTCGGT	0.587																																						ENST00000273067.4																			0				breast(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(1)	20						c.(439-441)cGc>cAc		membrane-associated ring finger (C3HC4) 4, E3 ubiquitin protein ligase							80	69	73					2																	217234544		2203	4300	6503	SO:0001583	missense	57574					Golgi membrane|Golgi stack|integral to membrane|trans-Golgi network	ubiquitin-protein ligase activity|zinc ion binding	g.chr2:217234544C>T	AB037820	CCDS33376.1	2q35	2013-01-09	2012-02-23		ENSG00000144583	ENSG00000144583		"MARCH membrane-associated ring fingers", "RING-type (C3HC4) zinc fingers"	29269	protein-coding gene	gene with protein product		608208	"membrane-associated ring finger (C3HC4) 4"			10718198, 14722266	Standard	NM_020814		Approved	KIAA1399, MARCH-IV, RNF174	uc002vgb.3	Q9P2E8	OTTHUMG00000154824	ENST00000273067.4:c.440G>A	2.37:g.217234544C>T	ENSP00000273067:p.Arg147His						p.R147H	NM_020814.2	NP_065865.1	Q9P2E8	MARH4_HUMAN		Epithelial(149;2.19e-05)|all cancers(144;0.00121)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(261;0.0125)	1	2206	-		Renal(323;0.0854)	147					Q4KMN7|Q86WR8	Missense_Mutation	SNP	ENST00000273067.4	37	c.440G>A	CCDS33376.1	.	.	.	.	.	.	.	.	.	.	C	16.46	3.129258	0.56721	.	.	ENSG00000144583	ENST00000273067	T	0.15952	2.38	5.83	5.83	0.93111	.	0.900793	0.09861	N	0.746239	T	0.16938	0.0407	N	0.24115	0.695	0.58432	D	0.999991	D	0.54047	0.964	B	0.42916	0.402	T	0.33033	-0.9884	10	0.23891	T	0.37	3.3484	19.1022	0.93277	0.0:1.0:0.0:0.0	.	147	Q9P2E8	MARH4_HUMAN	H	147	ENSP00000273067:R147H	ENSP00000273067:R147H	R	-	2	0	MARCH4	216942789	1.000000	0.71417	0.958000	0.39756	0.397000	0.30659	5.548000	0.67255	2.757000	0.94681	0.591000	0.81541	CGC		0.587	MARCH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337272.2	NM_020814		15	22	0	0	0	1	0	15	22					T	217234544	C	T	217234544	3	4	435	1	0	0	0	0	1	0	0	0	9303	768	27	1	808	1	MARCH4	2	217234544	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	110175	217234544	25964829	1511	22436											
RUFY4	285180	broad.mit.edu	37	chr2	218940239	218940239	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggaagcagagtggagtcacGtccagaggctgctgatgccc	10	6	15	10	1	1	3	1	1	0	2	2	5	2	5	2	3	3	3	2	3	1	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:218940239G>A	ENST00000344321.7	+	9	1542	c.1024G>A	c.(1024-1026)Gtc>Atc	p.V342I	RUFY4_ENST00000463872.1_3'UTR|RUFY4_ENST00000441828.2_3'UTR|RUFY4_ENST00000374155.3_Missense_Mutation_p.V362I	NM_198483.3	NP_940885.2	Q6ZNE9	RUFY4_HUMAN	RUN and FYVE domain containing 4	342							metal ion binding (GO:0046872)			endometrium(2)|kidney(2)|large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(1)	10		Renal(207;0.0915)		Epithelial(149;4.11e-06)|all cancers(144;0.000519)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		GTGGAGTCACGTCCAGAGGCT	0.617																																						ENST00000374155.3																			0				endometrium(2)|kidney(2)|large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(1)	10						c.(1084-1086)Gtc>Atc		RUN and FYVE domain containing 4							35	41	39					2																	218940239		2047	4213	6260	SO:0001583	missense	285180						metal ion binding	g.chr2:218940239G>A	AK128393		2q35	2007-01-29			ENSG00000188282	ENSG00000188282		"Zinc fingers, FYVE domain containing"	24804	protein-coding gene	gene with protein product							Standard	NM_198483		Approved	FLJ46536	uc010fvl.2	Q6ZNE9	OTTHUMG00000155235	ENST00000344321.7:c.1024G>A	2.37:g.218940239G>A	ENSP00000345900:p.Val342Ile					RUFY4_ENST00000463872.1_3'UTR|RUFY4_ENST00000441828.2_3'UTR|RUFY4_ENST00000344321.7_Missense_Mutation_p.V342I	p.V362I			Q6ZNE9	RUFY4_HUMAN		Epithelial(149;4.11e-06)|all cancers(144;0.000519)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	8	1494	+		Renal(207;0.0915)	342					Q6ZR96	Missense_Mutation	SNP	ENST00000344321.7	37	c.1084G>A		.	.	.	.	.	.	.	.	.	.	G	2.574	-0.299018	0.05532	.	.	ENSG00000188282	ENST00000344321;ENST00000374155	T;T	0.47869	1.49;0.83	4.57	2.73	0.32206	.	1.603700	0.03841	N	0.270627	T	0.33962	0.0881	L	0.27053	0.805	0.09310	N	1	B	0.24882	0.113	B	0.11329	0.006	T	0.17379	-1.0371	10	0.20519	T	0.43	-0.0665	6.2044	0.20593	0.2343:0.0:0.7657:0.0	.	342	Q6ZNE9	RUFY4_HUMAN	I	342;362	ENSP00000345900:V342I;ENSP00000363270:V362I	ENSP00000345900:V342I	V	+	1	0	RUFY4	218648484	0.000000	0.05858	0.002000	0.10522	0.014000	0.08584	-0.127000	0.10547	0.511000	0.28236	0.467000	0.42956	GTC		0.617	RUFY4-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_198483		7	7	0	0	0	1	0	7	7					A	218940239	G	A	218940239	3	1	435	1	0	0	0	0	1	0	0	0	13741	1145	40	1	1050	1	RUFY4	2	218940239	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	1705695	218940239	24259134	1512	22437											
RUFY4	285180	broad.mit.edu	37	chr2	218953985	218953985	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cccccatcagagagaaggacCgcctgtggcagaggctccag	10	4	13	14	1	1	3	1	0	0	3	2	5	2	4	5	3	0	2	5	3	1	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:218953985C>T	ENST00000344321.7	+	12	2031	c.1513C>T	c.(1513-1515)Cgc>Tgc	p.R505C	RUFY4_ENST00000441828.2_3'UTR|RUFY4_ENST00000374155.3_Missense_Mutation_p.R525C	NM_198483.3	NP_940885.2	Q6ZNE9	RUFY4_HUMAN	RUN and FYVE domain containing 4	505							metal ion binding (GO:0046872)			endometrium(2)|kidney(2)|large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(1)	10		Renal(207;0.0915)		Epithelial(149;4.11e-06)|all cancers(144;0.000519)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		AGAGAAGGACCGCCTGTGGCA	0.537																																						ENST00000374155.3																			0				endometrium(2)|kidney(2)|large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(1)	10						c.(1573-1575)Cgc>Tgc		RUN and FYVE domain containing 4							46	48	47					2																	218953985		1913	4144	6057	SO:0001583	missense	285180						metal ion binding	g.chr2:218953985C>T	AK128393		2q35	2007-01-29			ENSG00000188282	ENSG00000188282		"Zinc fingers, FYVE domain containing"	24804	protein-coding gene	gene with protein product							Standard	NM_198483		Approved	FLJ46536	uc010fvl.2	Q6ZNE9	OTTHUMG00000155235	ENST00000344321.7:c.1513C>T	2.37:g.218953985C>T	ENSP00000345900:p.Arg505Cys					RUFY4_ENST00000441828.2_3'UTR|RUFY4_ENST00000344321.7_Missense_Mutation_p.R505C	p.R525C			Q6ZNE9	RUFY4_HUMAN		Epithelial(149;4.11e-06)|all cancers(144;0.000519)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	11	1983	+		Renal(207;0.0915)	505					Q6ZR96	Missense_Mutation	SNP	ENST00000344321.7	37	c.1573C>T		.	.	.	.	.	.	.	.	.	.	C	12.06	1.823669	0.32237	.	.	ENSG00000188282	ENST00000344321;ENST00000374155	T;T	0.45668	1.46;0.89	4.92	-0.881	0.10607	Zinc finger, FYVE/PHD-type (1);	2.143360	0.01794	N	0.032486	T	0.33206	0.0855	L	0.44542	1.39	0.09310	N	1	B	0.29909	0.261	B	0.27796	0.083	T	0.16012	-1.0417	10	0.56958	D	0.05	0.0175	2.2826	0.04118	0.2383:0.256:0.3874:0.1184	.	505	Q6ZNE9	RUFY4_HUMAN	C	505;525	ENSP00000345900:R505C;ENSP00000363270:R525C	ENSP00000345900:R505C	R	+	1	0	RUFY4	218662230	0.000000	0.05858	0.000000	0.03702	0.571000	0.35966	-0.373000	0.07494	-0.318000	0.08665	0.555000	0.69702	CGC		0.537	RUFY4-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_198483		7	13	0	0	0	1	0	7	13					T	218953985	C	T	218953985	3	4	435	1	0	0	0	0	1	0	0	0	13741	652	23	2	1551	2	RUFY4	2	218953985	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	13746	218953985	24245388	1513	22438											
CXCR2	3579	broad.mit.edu	37	chr2	218999889	218999889	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacattcctgtgcaaggtggTctcactcctgaaggaagtca	10	10	10	11	0	2	1	2	1	1	0	5	2	4	2	2	3	1	1	2	3	3	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:218999889T>G	ENST00000318507.2	+	3	792	c.365T>G	c.(364-366)gTc>gGc	p.V122G		NM_001557.3	NP_001548.1	P25025	CXCR2_HUMAN	chemokine (C-X-C motif) receptor 2	122					cell surface receptor signaling pathway (GO:0007166)|cellular defense response (GO:0006968)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|dendritic cell chemotaxis (GO:0002407)|inflammatory response (GO:0006954)|interleukin-8-mediated signaling pathway (GO:0038112)|neutrophil activation (GO:0042119)|neutrophil chemotaxis (GO:0030593)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cell proliferation (GO:0008284)|receptor internalization (GO:0031623)|signal transduction (GO:0007165)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|mast cell granule (GO:0042629)|membrane (GO:0016020)|plasma membrane (GO:0005886)	C-X-C chemokine receptor activity (GO:0016494)|interleukin-8 binding (GO:0019959)|interleukin-8 receptor activity (GO:0004918)|signal transducer activity (GO:0004871)			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(11)|skin(1)|stomach(1)	22						TGCAAGGTGGTCTCACTCCTG	0.552																																						ENST00000318507.2																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(11)|skin(1)|stomach(1)	22						c.(364-366)gTc>gGc		chemokine (C-X-C motif) receptor 2							127	113	118					2																	218999889		2203	4300	6503	SO:0001583	missense	3579				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cellular defense response|dendritic cell chemotaxis|inflammatory response|neutrophil activation|neutrophil chemotaxis|positive regulation of cell proliferation	cell surface|integral to plasma membrane|mast cell granule	interleukin-8 receptor activity	g.chr2:218999889T>G	U11869	CCDS2408.1	2q35	2012-08-08	2009-11-25	2009-11-25	ENSG00000180871	ENSG00000180871		"CD molecules", "GPCR / Class A : Chemokine receptors : C-X-C motif", "Interleukins and interleukin receptors"	6027	protein-coding gene	gene with protein product		146928	"interleukin 8 receptor, beta"	IL8RB		1427896	Standard	NM_001557		Approved	CMKAR2, CD182	uc002vha.2	P25025	OTTHUMG00000133107	ENST00000318507.2:c.365T>G	2.37:g.218999889T>G	ENSP00000319635:p.Val122Gly						p.V122G	NM_001557.3	NP_001548.1	P25025	CXCR2_HUMAN			3	792	+			122					Q8IUZ1|Q9P2T6|Q9P2T7	Missense_Mutation	SNP	ENST00000318507.2	37	c.365T>G	CCDS2408.1	.	.	.	.	.	.	.	.	.	.	T	10.20	1.283762	0.23392	.	.	ENSG00000180871	ENST00000453237;ENST00000415392;ENST00000318507;ENST00000454148;ENST00000428565	T;T;T;T;T	0.39406	1.08;1.08;1.08;1.08;1.08	4.91	3.76	0.43208	GPCR, rhodopsin-like superfamily (1);	0.315964	0.30762	N	0.008922	T	0.68320	0.2988	H	0.96805	3.885	0.23724	N	0.997011	D	0.53462	0.96	P	0.58130	0.833	T	0.65553	-0.6140	10	0.87932	D	0	.	7.814	0.29247	0.0:0.1746:0.0:0.8254	.	122	P25025	CXCR2_HUMAN	G	122	ENSP00000413686:V122G;ENSP00000392348:V122G;ENSP00000319635:V122G;ENSP00000415148:V122G;ENSP00000392698:V122G	ENSP00000319635:V122G	V	+	2	0	CXCR2	218708134	0.997000	0.39634	0.244000	0.24202	0.148000	0.21650	3.395000	0.52558	0.845000	0.35118	0.374000	0.22700	GTC		0.552	CXCR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256772.2	NM_001557		18	30	0	0	0	1	0	18	30					G	218999889	T	G	218999889	3	3	435	1	0	0	0	0	1	0	0	0	4091	1667	58	5	367	5	CXCR2	2	218999889	Missense_Mutation	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	45904	218999889	24199484	1514	22439											
CXCR2	3579	broad.mit.edu	37	chr2	219000152	219000152	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atacagcaaactggcggatgCtgttacggatcctgccccag	10	8	11	12	2	0	0	0	0	0	0	1	2	1	2	3	3	6	3	3	3	3	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:219000152C>A	ENST00000318507.2	+	3	1055	c.628C>A	c.(628-630)Ctg>Atg	p.L210M		NM_001557.3	NP_001548.1	P25025	CXCR2_HUMAN	chemokine (C-X-C motif) receptor 2	210					cell surface receptor signaling pathway (GO:0007166)|cellular defense response (GO:0006968)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|dendritic cell chemotaxis (GO:0002407)|inflammatory response (GO:0006954)|interleukin-8-mediated signaling pathway (GO:0038112)|neutrophil activation (GO:0042119)|neutrophil chemotaxis (GO:0030593)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cell proliferation (GO:0008284)|receptor internalization (GO:0031623)|signal transduction (GO:0007165)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|mast cell granule (GO:0042629)|membrane (GO:0016020)|plasma membrane (GO:0005886)	C-X-C chemokine receptor activity (GO:0016494)|interleukin-8 binding (GO:0019959)|interleukin-8 receptor activity (GO:0004918)|signal transducer activity (GO:0004871)			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(11)|skin(1)|stomach(1)	22						CTGGCGGATGCTGTTACGGAT	0.537																																						ENST00000318507.2																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(11)|skin(1)|stomach(1)	22						c.(628-630)Ctg>Atg		chemokine (C-X-C motif) receptor 2							129	117	121					2																	219000152		2203	4300	6503	SO:0001583	missense	3579				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cellular defense response|dendritic cell chemotaxis|inflammatory response|neutrophil activation|neutrophil chemotaxis|positive regulation of cell proliferation	cell surface|integral to plasma membrane|mast cell granule	interleukin-8 receptor activity	g.chr2:219000152C>A	U11869	CCDS2408.1	2q35	2012-08-08	2009-11-25	2009-11-25	ENSG00000180871	ENSG00000180871		"CD molecules", "GPCR / Class A : Chemokine receptors : C-X-C motif", "Interleukins and interleukin receptors"	6027	protein-coding gene	gene with protein product		146928	"interleukin 8 receptor, beta"	IL8RB		1427896	Standard	NM_001557		Approved	CMKAR2, CD182	uc002vha.2	P25025	OTTHUMG00000133107	ENST00000318507.2:c.628C>A	2.37:g.219000152C>A	ENSP00000319635:p.Leu210Met						p.L210M	NM_001557.3	NP_001548.1	P25025	CXCR2_HUMAN			3	1055	+			210					Q8IUZ1|Q9P2T6|Q9P2T7	Missense_Mutation	SNP	ENST00000318507.2	37	c.628C>A	CCDS2408.1	.	.	.	.	.	.	.	.	.	.	C	11.55	1.672497	0.29693	.	.	ENSG00000180871	ENST00000318507	T	0.39592	1.07	5.39	3.59	0.41128	GPCR, rhodopsin-like superfamily (1);	0.724512	0.13501	N	0.383277	T	0.39809	0.1092	L	0.43757	1.38	0.18873	N	0.999986	B	0.33413	0.411	B	0.43916	0.436	T	0.33420	-0.9869	9	.	.	.	.	4.9466	0.13993	0.081:0.1508:0.6145:0.1537	.	210	P25025	CXCR2_HUMAN	M	210	ENSP00000319635:L210M	.	L	+	1	2	CXCR2	218708397	0.831000	0.29352	0.464000	0.27143	0.161000	0.22273	1.334000	0.33827	1.282000	0.44496	-0.397000	0.06425	CTG		0.537	CXCR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256772.2	NM_001557		41	44	1	0	2.77807e-22	1	3.09e-22	41	44					A	219000152	C	A	219000152	3	1	435	1	0	0	0	0	1	0	0	0	4091	796	28	5	630	5	CXCR2	2	219000152	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	263	219000152	24199221	1515	22440											
VIL1	7429	broad.mit.edu	37	chr2	219292746	219292746	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggagaccaactcctatgacGtccagaggctgctgcatgtc	9	9	11	12	1	0	3	0	1	0	2	3	4	2	3	3	2	3	3	3	2	2	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:219292746G>A	ENST00000248444.5	+	5	494	c.406G>A	c.(406-408)Gtc>Atc	p.V136I	VIL1_ENST00000440053.1_Missense_Mutation_p.V136I|VIL1_ENST00000392114.2_Intron	NM_007127.2	NP_009058.2	P09327	VILI_HUMAN	villin 1	136	Core.				actin filament capping (GO:0051693)|actin filament depolymerization (GO:0030042)|actin filament polymerization (GO:0030041)|actin filament severing (GO:0051014)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to hepatocyte growth factor stimulus (GO:0035729)|cytoplasmic actin-based contraction involved in cell motility (GO:0060327)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell differentiation (GO:0030855)|positive regulation of actin filament bundle assembly (GO:0032233)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell migration (GO:0010634)|protein complex assembly (GO:0006461)|regulation of actin nucleation (GO:0051125)|regulation of cell shape (GO:0008360)|regulation of lamellipodium morphogenesis (GO:2000392)|regulation of wound healing (GO:0061041)|response to bacterium (GO:0009617)	actin filament bundle (GO:0032432)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|filopodium tip (GO:0032433)|lamellipodium (GO:0030027)|microvillus (GO:0005902)|ruffle (GO:0001726)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|identical protein binding (GO:0042802)|lysophosphatidic acid binding (GO:0035727)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein homodimerization activity (GO:0042803)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Renal(207;0.0474)		Epithelial(149;6.88e-07)|all cancers(144;0.00013)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CTCCTATGACGTCCAGAGGCT	0.622																																						ENST00000248444.5																			0				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						c.(406-408)Gtc>Atc		villin 1							135	131	132					2																	219292746		2203	4300	6503	SO:0001583	missense	7429				actin filament capping|actin filament depolymerization|actin filament polymerization|actin filament severing|apoptosis|cellular response to epidermal growth factor stimulus|cytoplasmic actin-based contraction involved in cell motility|epidermal growth factor receptor signaling pathway|positive regulation of actin filament bundle assembly|positive regulation of epithelial cell migration|regulation of actin nucleation|regulation of cell shape|regulation of lamellipodium morphogenesis|regulation of wound healing|response to bacterium	actin filament bundle|cytoplasm|filopodium tip|intracellular membrane-bounded organelle|lamellipodium|microvillus|ruffle	actin filament binding|calcium ion binding|caspase inhibitor activity|lysophosphatidic acid binding|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity	g.chr2:219292746G>A	X12901	CCDS2417.1	2q35	2012-10-02			ENSG00000127831	ENSG00000127831			12690	protein-coding gene	gene with protein product		193040		VIL		2846586	Standard	NM_007127		Approved	D2S1471	uc002via.3	P09327	OTTHUMG00000133112	ENST00000248444.5:c.406G>A	2.37:g.219292746G>A	ENSP00000248444:p.Val136Ile					VIL1_ENST00000440053.1_Missense_Mutation_p.V136I|VIL1_ENST00000392114.2_Intron	p.V136I	NM_007127.2	NP_009058.2	P09327	VILI_HUMAN		Epithelial(149;6.88e-07)|all cancers(144;0.00013)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	5	494	+		Renal(207;0.0474)	136			Core.		B2R9A7|Q53S11|Q96AC8	Missense_Mutation	SNP	ENST00000248444.5	37	c.406G>A	CCDS2417.1	.	.	.	.	.	.	.	.	.	.	G	3.894	-0.023424	0.07634	.	.	ENSG00000127831	ENST00000248444;ENST00000454069;ENST00000440053	T;T;T	0.29917	1.55;2.31;1.55	5.05	0.864	0.19068	.	0.350346	0.25938	N	0.027328	T	0.15998	0.0385	N	0.16903	0.455	0.36638	D	0.876687	B;B	0.18310	0.027;0.014	B;B	0.12156	0.007;0.003	T	0.15723	-1.0427	10	0.19590	T	0.45	-24.2957	10.2989	0.43639	0.3287:0.0:0.6713:0.0	.	136;136	Q96AC8;P09327	.;VILI_HUMAN	I	136;132;136	ENSP00000248444:V136I;ENSP00000412657:V132I;ENSP00000409270:V136I	ENSP00000248444:V136I	V	+	1	0	VIL1	219000990	0.043000	0.20138	0.334000	0.25495	0.145000	0.21501	0.272000	0.18644	0.298000	0.22638	0.462000	0.41574	GTC		0.622	VIL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256778.3	NM_007127		41	71	0	0	0	1	0	41	71					A	219292746	G	A	219292746	3	1	435	1	0	0	0	0	1	0	0	0	17161	1145	40	1	420	1	VIL1	2	219292746	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	292594	219292746	23906627	1516	22441											
ZNF142	7701	broad.mit.edu	37	chr2	219503083	219503083	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cagccctcaggtccagtgtgGggagcggcaggagcaggagg	8	4	19	10	1	1	0	1	0	0	0	2	3	2	3	2	7	3	2	2	7	0	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:219503083G>A	ENST00000449707.1	-	10	5464	c.5043C>T	c.(5041-5043)ccC>ccT	p.P1681P	ZNF142_ENST00000411696.2_Silent_p.P1681P	NM_001105537.1	NP_001099007.1	P52746	ZN142_HUMAN	zinc finger protein 142	1681					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(7)|endometrium(7)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38		Renal(207;0.0474)		Epithelial(149;5.21e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		GTCCAGTGTGGGGAGCGGCAG	0.627																																					Colon(170;867 1942 8995 15834 18053)	ENST00000411696.2																			0				breast(7)|endometrium(7)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38						c.(5041-5043)ccC>ccT		zinc finger protein 142							23	25	25					2																	219503083		2023	4187	6210	SO:0001819	synonymous_variant	7701				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr2:219503083G>A	U09849	CCDS42817.1	2q35	2013-01-08	2006-06-13		ENSG00000115568	ENSG00000115568		"Zinc fingers, C2H2-type"	12927	protein-coding gene	gene with protein product		604083	"zinc finger protein 142 (clone pHZ-49)"				Standard	NM_001105537		Approved	KIAA0236, pHZ-49	uc002vin.4	P52746	OTTHUMG00000154736	ENST00000449707.1:c.5043C>T	2.37:g.219503083G>A						ZNF142_ENST00000449707.1_Silent_p.P1681P	p.P1681P			P52746	ZN142_HUMAN		Epithelial(149;5.21e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	9	5822	-		Renal(207;0.0474)	1681					Q92510	Silent	SNP	ENST00000449707.1	37	c.5043C>T	CCDS42817.1																																																																																				0.627	ZNF142-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336833.1	NM_005081		7	11	0	0	0	1	0	7	11					A	219503083	G	A	219503083	2	1	435	1	0	0	0	0	0	0	0	1	17728	1219	43	3		3	ZNF142	2	219503083	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	210337	219503083	23696290	1517	22442											
ZNF142	7701	broad.mit.edu	37	chr2	219508081	219508081	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcgttttcctcccccgccaCgtccccccctgcagccttca	3	10	5	23	3	1	0	1	0	0	0	5	0	4	0	8	0	2	2	8	0	0	3	rs200582262		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:219508081C>T	ENST00000449707.1	-	8	3579	c.3158G>A	c.(3157-3159)cGt>cAt	p.R1053H	ZNF142_ENST00000411696.2_Missense_Mutation_p.R1053H	NM_001105537.1	NP_001099007.1	P52746	ZN142_HUMAN	zinc finger protein 142	1053					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(7)|endometrium(7)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38		Renal(207;0.0474)		Epithelial(149;5.21e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		TCCCCCGCCACGTCCCCCCCT	0.607													C|||	1	0.000199681	8e-04	0	5008	,	,		16603	0		0	False		,,,				2504	0				Colon(170;867 1942 8995 15834 18053)	ENST00000411696.2																			0				breast(7)|endometrium(7)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38						c.(3157-3159)cGt>cAt		zinc finger protein 142		C	HIS/ARG	1,3855		0,1,1927	40	46	44		3158	1.9	0	2		44	0,8226		0,0,4113	yes	missense	ZNF142	NM_001105537.1	29	0,1,6040	TT,TC,CC		0.0,0.0259,0.0083	benign	1053/1688	219508081	1,12081	1928	4113	6041	SO:0001583	missense	7701				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr2:219508081C>T	U09849	CCDS42817.1	2q35	2013-01-08	2006-06-13		ENSG00000115568	ENSG00000115568		"Zinc fingers, C2H2-type"	12927	protein-coding gene	gene with protein product		604083	"zinc finger protein 142 (clone pHZ-49)"				Standard	NM_001105537		Approved	KIAA0236, pHZ-49	uc002vin.4	P52746	OTTHUMG00000154736	ENST00000449707.1:c.3158G>A	2.37:g.219508081C>T	ENSP00000408643:p.Arg1053His					ZNF142_ENST00000449707.1_Missense_Mutation_p.R1053H	p.R1053H			P52746	ZN142_HUMAN		Epithelial(149;5.21e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	7	3937	-		Renal(207;0.0474)	1053					Q92510	Missense_Mutation	SNP	ENST00000449707.1	37	c.3158G>A	CCDS42817.1	.	.	.	.	.	.	.	.	.	.	C	2.447	-0.327195	0.05350	2.59E-4	0.0	ENSG00000115568	ENST00000449707;ENST00000411696	T;T	0.11821	2.74;2.74	4.76	1.93	0.25924	.	0.640933	0.15102	N	0.280473	T	0.09291	0.0229	L	0.29908	0.895	0.09310	N	1	B;B	0.18968	0.032;0.01	B;B	0.10450	0.005;0.002	T	0.25467	-1.0131	10	0.42905	T	0.14	-19.6554	6.6284	0.22843	0.0:0.7015:0.0:0.2985	.	1053;890	P52746;A8MWU9	ZN142_HUMAN;.	H	1053	ENSP00000408643:R1053H;ENSP00000398798:R1053H	ENSP00000398798:R1053H	R	-	2	0	ZNF142	219216325	0.228000	0.23718	0.004000	0.12327	0.013000	0.08279	1.304000	0.33482	0.707000	0.31934	-0.150000	0.13652	CGT		0.607	ZNF142-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336833.1	NM_005081		11	44	0	0	0	1	0	11	44					T	219508081	C	T	219508081	3	4	435	1	0	0	0	0	1	0	0	0	17728	536	19	1	1917	1	ZNF142	2	219508081	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	4998	219508081	23691292	1518	22443											
BCS1L	617	broad.mit.edu	37	chr2	219526232	219526232	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaccttcacggccctgggcActgaccgaaaggttttcttc	7	11	9	14	2	3	1	2	1	1	0	4	2	3	1	3	3	0	2	3	3	1	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:219526232A>G	ENST00000431802.1	+	3	1123	c.424A>G	c.(424-426)Act>Gct	p.T142A	BCS1L_ENST00000412366.1_Missense_Mutation_p.T142A|ZNF142_ENST00000449707.1_5'Flank|ZNF142_ENST00000411696.2_5'Flank|BCS1L_ENST00000439945.1_Missense_Mutation_p.T142A|BCS1L_ENST00000392109.1_Missense_Mutation_p.T142A|BCS1L_ENST00000392111.2_Missense_Mutation_p.T142A|BCS1L_ENST00000359273.3_Missense_Mutation_p.T142A|BCS1L_ENST00000392110.2_Missense_Mutation_p.T142A			Q9Y276	BCS1_HUMAN	BC1 (ubiquinol-cytochrome c reductase) synthesis-like	142					mitochondrial respiratory chain complex I assembly (GO:0032981)|mitochondrial respiratory chain complex III assembly (GO:0034551)|mitochondrial respiratory chain complex IV assembly (GO:0033617)|mitochondrion organization (GO:0007005)	mitochondrial respiratory chain complex III (GO:0005750)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)	8		Renal(207;0.0474)		Epithelial(149;7.12e-07)|all cancers(144;0.000131)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GGCCCTGGGCACTGACCGAAA	0.532																																						ENST00000431802.1																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)	8						c.(424-426)Act>Gct		BC1 (ubiquinol-cytochrome c reductase) synthesis-like							75	81	79					2																	219526232		2203	4300	6503	SO:0001583	missense	617				mitochondrial respiratory chain complex I assembly|mitochondrial respiratory chain complex III assembly|mitochondrial respiratory chain complex IV assembly	integral to membrane|mitochondrial respiratory chain complex III	ATP binding|nucleoside-triphosphatase activity|protein binding	g.chr2:219526232A>G	AF026849	CCDS2419.1	2q35	2014-09-17	2012-10-12		ENSG00000074582	ENSG00000074582		"ATPases / AAA-type", "Mitochondrial respiratory chain complex assembly factors"	1020	protein-coding gene	gene with protein product	"GRACILE syndrome", "Bjornstad syndrome"	603647	"BCS1 (yeast homolog)-like", "BCS1-like (yeast)", "BCS1-like (S. cerevisiae)"			9878253, 17314340	Standard	NM_001079866		Approved	Hs.6719, BCS, h-BCS, BJS	uc002viq.3	Q9Y276	OTTHUMG00000133114	ENST00000431802.1:c.424A>G	2.37:g.219526232A>G	ENSP00000413908:p.Thr142Ala					BCS1L_ENST00000439945.1_Missense_Mutation_p.T142A|BCS1L_ENST00000412366.1_Missense_Mutation_p.T142A|BCS1L_ENST00000392109.1_Missense_Mutation_p.T142A|BCS1L_ENST00000392110.2_Missense_Mutation_p.T142A|BCS1L_ENST00000392111.2_Missense_Mutation_p.T142A|BCS1L_ENST00000359273.3_Missense_Mutation_p.T142A	p.T142A			Q9Y276	BCS1_HUMAN		Epithelial(149;7.12e-07)|all cancers(144;0.000131)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	3	1123	+		Renal(207;0.0474)	142					B3KTW9|Q7Z2V7	Missense_Mutation	SNP	ENST00000431802.1	37	c.424A>G	CCDS2419.1	.	.	.	.	.	.	.	.	.	.	A	14.52	2.559989	0.45590	.	.	ENSG00000074582	ENST00000430322;ENST00000456050;ENST00000443791;ENST00000359273;ENST00000392109;ENST00000392110;ENST00000392111;ENST00000412366;ENST00000439945;ENST00000431802	D;D;D;D;D;D;D;D;D;D	0.95949	-3.86;-3.86;-3.86;-3.86;-3.86;-3.86;-3.86;-3.86;-3.86;-3.86	5.33	5.33	0.75918	BCS1, N-terminal (1);	0.048355	0.85682	D	0.000000	D	0.90559	0.7041	N	0.21194	0.64	0.44061	D	0.996809	B	0.17465	0.022	B	0.22152	0.038	D	0.86757	0.1964	10	0.11182	T	0.66	-13.4439	15.469	0.75426	1.0:0.0:0.0:0.0	.	142	Q9Y276	BCS1_HUMAN	A	142;142;22;142;142;142;142;142;142;142	ENSP00000398957:T142A;ENSP00000395440:T142A;ENSP00000412729:T22A;ENSP00000352219:T142A;ENSP00000375957:T142A;ENSP00000375958:T142A;ENSP00000375959:T142A;ENSP00000406494:T142A;ENSP00000404999:T142A;ENSP00000413908:T142A	ENSP00000352219:T142A	T	+	1	0	BCS1L	219234476	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.726000	0.68515	2.239000	0.73571	0.528000	0.53228	ACT		0.532	BCS1L-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336756.1	NM_004328		23	21	0	0	0	1	0	23	21					G	219526232	A	G	219526232	3	3	435	1	0	0	0	0	1	0	0	0	1389	159	6	4	430	4	BCS1L	2	219526232	Missense_Mutation	SNP	A	TCGA-XK-AAIW-01A-11D-A41K-08	18151	219526232	23673141	1519	22444											
TTLL4	9654	broad.mit.edu	37	chr2	219609893	219609893	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agaaagttgtccgaccagccCtcatctacagtctctttccc	9	11	6	15	1	3	1	1	0	2	1	6	2	5	1	4	0	2	1	4	0	2	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:219609893C>A	ENST00000392102.1	+	6	2063	c.1723C>A	c.(1723-1725)Ctc>Atc	p.L575I	TTLL4_ENST00000457313.1_Missense_Mutation_p.L410I|TTLL4_ENST00000442769.1_Missense_Mutation_p.L575I|TTLL4_ENST00000258398.4_Missense_Mutation_p.L575I	NM_014640.4	NP_055455.3	Q14679	TTLL4_HUMAN	tubulin tyrosine ligase-like family, member 4	575					protein polyglutamylation (GO:0018095)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	ligase activity (GO:0016874)|tubulin binding (GO:0015631)			endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	39		Renal(207;0.0915)		Epithelial(149;5.03e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0101)		CCGACCAGCCCTCATCTACAG	0.473																																					GBM(172;1818 2053 15407 20943 49753)	ENST00000392102.1																			0				endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	39						c.(1723-1725)Ctc>Atc		tubulin tyrosine ligase-like family, member 4							204	197	199					2																	219609893		2203	4300	6503	SO:0001583	missense	9654				protein polyglutamylation	cilium|microtubule basal body	ATP binding|tubulin binding|tubulin-tyrosine ligase activity	g.chr2:219609893C>A		CCDS2422.1	2p24.3-p24.1	2013-02-14			ENSG00000135912	ENSG00000135912		"Tubulin tyrosine ligase-like family"	28976	protein-coding gene	gene with protein product						11054573	Standard	NM_014640		Approved	KIAA0173	uc002viy.3	Q14679	OTTHUMG00000133081	ENST00000392102.1:c.1723C>A	2.37:g.219609893C>A	ENSP00000375951:p.Leu575Ile					TTLL4_ENST00000442769.1_Missense_Mutation_p.L575I|TTLL4_ENST00000258398.4_Missense_Mutation_p.L575I|TTLL4_ENST00000457313.1_Missense_Mutation_p.L410I	p.L575I	NM_014640.4	NP_055455.3	Q14679	TTLL4_HUMAN		Epithelial(149;5.03e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0101)	6	2063	+		Renal(207;0.0915)	575					A8K6V5|Q8WW29	Missense_Mutation	SNP	ENST00000392102.1	37	c.1723C>A	CCDS2422.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.249241	0.80024	.	.	ENSG00000135912	ENST00000457313;ENST00000392102;ENST00000442769;ENST00000258398	T;T;T;T	0.11604	3.39;3.6;2.76;3.6	5.3	4.39	0.52855	.	0.361441	0.22961	N	0.053553	T	0.25382	0.0617	M	0.75777	2.31	0.42251	D	0.991975	P;P;D	0.56746	0.926;0.908;0.977	B;B;P	0.58721	0.354;0.444;0.844	T	0.01496	-1.1340	10	0.66056	D	0.02	.	8.4082	0.32627	0.0:0.8162:0.0:0.1838	.	410;575;575	E9PH58;E7EX20;Q14679	.;.;TTLL4_HUMAN	I	410;575;575;575	ENSP00000393332:L410I;ENSP00000375951:L575I;ENSP00000396555:L575I;ENSP00000258398:L575I	ENSP00000258398:L575I	L	+	1	0	TTLL4	219318137	1.000000	0.71417	0.997000	0.53966	0.896000	0.52359	2.743000	0.47442	1.386000	0.46466	0.655000	0.94253	CTC		0.473	TTLL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256726.1	NM_014640		42	67	1	0	2.24893e-16	1	2.47033e-16	42	67					A	219609893	C	A	219609893	3	1	435	1	0	0	0	0	1	0	0	0	16726	681	24	5	1737	5	TTLL4	2	219609893	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	83661	219609893	23589480	1520	22445											
TTLL4	9654	broad.mit.edu	37	chr2	219618908	219618908	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctctgaagacgggaccacGcccaaatccaagaagactca	14	5	8	14	2	2	4	1	1	1	3	4	5	3	5	3	1	0	0	3	1	4	0	rs148310172		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:219618908G>A	ENST00000392102.1	+	20	3736	c.3396G>A	c.(3394-3396)acG>acA	p.T1132T	TTLL4_ENST00000457313.1_Intron|TTLL4_ENST00000442769.1_Silent_p.T1068T|TTLL4_ENST00000258398.4_Silent_p.T1132T	NM_014640.4	NP_055455.3	Q14679	TTLL4_HUMAN	tubulin tyrosine ligase-like family, member 4	1132					protein polyglutamylation (GO:0018095)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	ligase activity (GO:0016874)|tubulin binding (GO:0015631)			endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	39		Renal(207;0.0915)		Epithelial(149;5.03e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0101)		ACGGGACCACGCCCAAATCCA	0.493																																					GBM(172;1818 2053 15407 20943 49753)	ENST00000392102.1																			0				endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	39						c.(3394-3396)acG>acA		tubulin tyrosine ligase-like family, member 4		G		0,4406		0,0,2203	158	160	159		3396	-8.5	0	2	dbSNP_134	159	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	TTLL4	NM_014640.4		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		1132/1200	219618908	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	9654				protein polyglutamylation	cilium|microtubule basal body	ATP binding|tubulin binding|tubulin-tyrosine ligase activity	g.chr2:219618908G>A		CCDS2422.1	2p24.3-p24.1	2013-02-14			ENSG00000135912	ENSG00000135912		"Tubulin tyrosine ligase-like family"	28976	protein-coding gene	gene with protein product						11054573	Standard	NM_014640		Approved	KIAA0173	uc002viy.3	Q14679	OTTHUMG00000133081	ENST00000392102.1:c.3396G>A	2.37:g.219618908G>A						TTLL4_ENST00000442769.1_Silent_p.T1068T|TTLL4_ENST00000258398.4_Silent_p.T1132T|TTLL4_ENST00000457313.1_Intron	p.T1132T	NM_014640.4	NP_055455.3	Q14679	TTLL4_HUMAN		Epithelial(149;5.03e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0101)	20	3736	+		Renal(207;0.0915)	1132					A8K6V5|Q8WW29	Silent	SNP	ENST00000392102.1	37	c.3396G>A	CCDS2422.1	.	.	.	.	.	.	.	.	.	.	g	2.849	-0.238633	0.05944	0.0	1.16E-4	ENSG00000135912	ENST00000436668	.	.	.	4.51	-8.48	0.00935	.	.	.	.	.	T	0.16428	0.0395	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.17077	-1.0381	4	.	.	.	.	2.8271	0.05488	0.4561:0.2135:0.2416:0.0889	.	.	.	.	T	235	.	.	A	+	1	0	TTLL4	219327152	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.017000	0.03630	-2.008000	0.00955	-2.226000	0.00293	GCC		0.493	TTLL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256726.1	NM_014640		47	81	0	0	0	1	0	47	81					A	219618908	G	A	219618908	2	1	435	1	0	0	0	0	0	0	0	1	16726	1074	38	1		1	TTLL4	2	219618908	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	9015	219618908	23580465	1521	22446											
WNT6	7475	broad.mit.edu	37	chr2	219736503	219736503	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggggacgcggagacatccgcGcgttggtgcaactgcacaac	9	5	15	12	5	0	1	0	0	0	1	1	3	1	2	1	4	4	3	1	4	2	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:219736503G>A	ENST00000233948.3	+	3	815	c.598G>A	c.(598-600)Gcg>Acg	p.A200T		NM_006522.3	NP_006513.1	Q9Y6F9	WNT6_HUMAN	wingless-type MMTV integration site family, member 6	200					axis specification (GO:0009798)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell fate commitment (GO:0045165)|cellular response to retinoic acid (GO:0071300)|cornea development in camera-type eye (GO:0061303)|epithelial-mesenchymal cell signaling (GO:0060684)|nephron tubule formation (GO:0072079)|neuron differentiation (GO:0030182)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of gene expression (GO:0010628)|positive regulation of tooth mineralization (GO:0070172)|positive regulation of transcription, DNA-templated (GO:0045893)|Wnt signaling pathway (GO:0016055)	cell surface (GO:0009986)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)			large_intestine(1)|ovary(2)|skin(1)	4		Renal(207;0.0474)		Epithelial(149;4.53e-07)|all cancers(144;9.3e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AGACATCCGCGCGTTGGTGCA	0.652																																						ENST00000233948.3																			0				large_intestine(1)|ovary(2)|skin(1)	4						c.(598-600)Gcg>Acg		wingless-type MMTV integration site family, member 6							27	29	28					2																	219736503		2202	4300	6502	SO:0001583	missense	7475				anterior/posterior pattern formation|axis specification|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|cornea development in camera-type eye|neuron differentiation|odontogenesis of dentine-containing tooth|positive regulation of gene expression|positive regulation of tooth mineralization|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	G-protein-coupled receptor binding|signal transducer activity	g.chr2:219736503G>A	AF079522	CCDS2425.1	2q35	2008-05-23			ENSG00000115596	ENSG00000115596		"Wingless-type MMTV integration sites"	12785	protein-coding gene	gene with protein product		604663				10343101, 11350055	Standard	NM_006522		Approved		uc002vjc.1	Q9Y6F9	OTTHUMG00000133082	ENST00000233948.3:c.598G>A	2.37:g.219736503G>A	ENSP00000233948:p.Ala200Thr						p.A200T	NM_006522.3	NP_006513.1	Q9Y6F9	WNT6_HUMAN		Epithelial(149;4.53e-07)|all cancers(144;9.3e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	3	815	+		Renal(207;0.0474)	200					Q9H1J6|Q9H238	Missense_Mutation	SNP	ENST00000233948.3	37	c.598G>A	CCDS2425.1	.	.	.	.	.	.	.	.	.	.	g	12.59	1.984615	0.35036	.	.	ENSG00000115596	ENST00000233948	T	0.76578	-1.03	4.88	4.0	0.46444	.	0.394356	0.28203	N	0.016215	T	0.59945	0.2231	N	0.13043	0.29	0.19300	N	0.999977	B	0.16802	0.019	B	0.13407	0.009	T	0.40776	-0.9545	10	0.17369	T	0.5	.	12.2804	0.54760	0.0827:0.0:0.9173:0.0	.	200	Q9Y6F9	WNT6_HUMAN	T	200	ENSP00000233948:A200T	ENSP00000233948:A200T	A	+	1	0	WNT6	219444747	0.192000	0.23301	0.021000	0.16686	0.989000	0.77384	1.785000	0.38684	1.060000	0.40578	0.486000	0.48141	GCG		0.652	WNT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256727.2	NM_006522		7	11	0	0	0	1	0	7	11					A	219736503	G	A	219736503	3	1	435	1	0	0	0	0	1	0	0	0	17390	1087	38	1	608	1	WNT6	2	219736503	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	117595	219736503	23462870	1522	22447											
WNT6	7475	broad.mit.edu	37	chr2	219738492	219738492	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagctcgaagagaactgcctGtgccgcttccactggtgctg	7	9	12	13	2	0	1	0	0	0	1	2	3	1	1	3	1	5	3	3	1	2	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:219738492G>A	ENST00000233948.3	+	4	1240	c.1023G>A	c.(1021-1023)ctG>ctA	p.L341L		NM_006522.3	NP_006513.1	Q9Y6F9	WNT6_HUMAN	wingless-type MMTV integration site family, member 6	341					axis specification (GO:0009798)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell fate commitment (GO:0045165)|cellular response to retinoic acid (GO:0071300)|cornea development in camera-type eye (GO:0061303)|epithelial-mesenchymal cell signaling (GO:0060684)|nephron tubule formation (GO:0072079)|neuron differentiation (GO:0030182)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of gene expression (GO:0010628)|positive regulation of tooth mineralization (GO:0070172)|positive regulation of transcription, DNA-templated (GO:0045893)|Wnt signaling pathway (GO:0016055)	cell surface (GO:0009986)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)			large_intestine(1)|ovary(2)|skin(1)	4		Renal(207;0.0474)		Epithelial(149;4.53e-07)|all cancers(144;9.3e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AGAACTGCCTGTGCCGCTTCC	0.697																																						ENST00000233948.3																			0				large_intestine(1)|ovary(2)|skin(1)	4						c.(1021-1023)ctG>ctA		wingless-type MMTV integration site family, member 6							13	10	11					2																	219738492		2141	4201	6342	SO:0001819	synonymous_variant	7475				anterior/posterior pattern formation|axis specification|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|cornea development in camera-type eye|neuron differentiation|odontogenesis of dentine-containing tooth|positive regulation of gene expression|positive regulation of tooth mineralization|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	G-protein-coupled receptor binding|signal transducer activity	g.chr2:219738492G>A	AF079522	CCDS2425.1	2q35	2008-05-23			ENSG00000115596	ENSG00000115596		"Wingless-type MMTV integration sites"	12785	protein-coding gene	gene with protein product		604663				10343101, 11350055	Standard	NM_006522		Approved		uc002vjc.1	Q9Y6F9	OTTHUMG00000133082	ENST00000233948.3:c.1023G>A	2.37:g.219738492G>A							p.L341L	NM_006522.3	NP_006513.1	Q9Y6F9	WNT6_HUMAN		Epithelial(149;4.53e-07)|all cancers(144;9.3e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	4	1240	+		Renal(207;0.0474)	341					Q9H1J6|Q9H238	Silent	SNP	ENST00000233948.3	37	c.1023G>A	CCDS2425.1																																																																																				0.697	WNT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256727.2	NM_006522		11	4	0	0	0	1	0	11	4					A	219738492	G	A	219738492	2	1	435	1	0	0	0	0	0	0	0	1	17390	1364	48	3		3	WNT6	2	219738492	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	1989	219738492	23460881	1523	22448											
WNT10A	80326	broad.mit.edu	37	chr2	219746967	219746967	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gtgtgcctaacattgccaggCctgagccggcggcagatgga	8	7	15	11	2	0	2	0	1	0	1	0	3	0	3	4	4	4	1	4	4	1	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:219746967C>T	ENST00000258411.3	+	2	831	c.198C>T	c.(196-198)ggC>ggT	p.G66G		NM_025216.2	NP_079492.2	Q9GZT5	WN10A_HUMAN	wingless-type MMTV integration site family, member 10A	66					cell fate commitment (GO:0045165)|cellular response to transforming growth factor beta stimulus (GO:0071560)|epidermis morphogenesis (GO:0048730)|hair follicle development (GO:0001942)|hair follicle morphogenesis (GO:0031069)|neural crest cell differentiation (GO:0014033)|neuron differentiation (GO:0030182)|odontogenesis (GO:0042476)|positive regulation of gene expression (GO:0010628)|regulation of odontogenesis of dentin-containing tooth (GO:0042487)|sebaceous gland development (GO:0048733)|skin development (GO:0043588)|tongue development (GO:0043586)|Wnt signaling pathway (GO:0016055)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)			breast(1)|cervix(1)|endometrium(2)|lung(6)|skin(2)	12		Renal(207;0.0474)		Epithelial(149;4.26e-07)|all cancers(144;8.8e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CATTGCCAGGCCTGAGCCGGC	0.602																																						ENST00000258411.3																			0				breast(1)|cervix(1)|endometrium(2)|lung(6)|skin(2)	12						c.(196-198)ggC>ggT		wingless-type MMTV integration site family, member 10A							92	85	88					2																	219746967		2203	4300	6503	SO:0001819	synonymous_variant	80326				anterior/posterior pattern formation|axis specification|canonical Wnt receptor signaling pathway|cellular response to transforming growth factor beta stimulus|female gonad development|hair follicle morphogenesis|odontogenesis|regulation of odontogenesis of dentine-containing tooth|sebaceous gland development|skin development|tongue development|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	G-protein-coupled receptor binding|signal transducer activity	g.chr2:219746967C>T	AB059569	CCDS2426.1	2q35	2008-05-23			ENSG00000135925	ENSG00000135925		"Wingless-type MMTV integration sites"	13829	protein-coding gene	gene with protein product		606268				11350055, 17847007	Standard	NM_025216		Approved		uc002vjd.1	Q9GZT5	OTTHUMG00000133085	ENST00000258411.3:c.198C>T	2.37:g.219746967C>T							p.G66G	NM_025216.2	NP_079492.2	Q9GZT5	WN10A_HUMAN		Epithelial(149;4.26e-07)|all cancers(144;8.8e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	2	831	+		Renal(207;0.0474)	66					Q53S44|Q96TA7|Q9H7S8	Silent	SNP	ENST00000258411.3	37	c.198C>T	CCDS2426.1	.	.	.	.	.	.	.	.	.	.	C	10.79	1.451121	0.26074	.	.	ENSG00000135925	ENST00000458582	.	.	.	4.82	1.24	0.21308	.	.	.	.	.	T	0.55497	0.1924	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.48043	-0.9069	4	.	.	.	.	8.1457	0.31110	0.2403:0.417:0.3427:0.0	.	.	.	.	S	29	.	.	P	+	1	0	WNT10A	219455211	0.566000	0.26618	1.000000	0.80357	0.973000	0.67179	-0.239000	0.08965	0.433000	0.26313	0.462000	0.41574	CCT		0.602	WNT10A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256730.2	NM_025216		13	20	0	0	0	1	0	13	20					T	219746967	C	T	219746967	2	4	435	1	0	0	0	0	0	0	0	1	17379	726	26	3		3	WNT10A	2	219746967	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	8475	219746967	23452406	1524	22449											
IHH	3549	broad.mit.edu	37	chr2	219925158	219925158	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaacaggaccaggcagaagTgcagtcggggccggagccgg	10	2	18	11	3	0	1	0	0	0	1	1	3	0	3	3	6	3	3	3	6	2	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:219925158T>C	ENST00000295731.6	-	1	31	c.32A>G	c.(31-33)cAc>cGc	p.H11R	MIR3131_ENST00000583592.1_RNA	NM_002181.3	NP_002172.2	Q14623	IHH_HUMAN	indian hedgehog	11					bone resorption (GO:0045453)|camera-type eye photoreceptor cell fate commitment (GO:0060220)|cartilage development (GO:0051216)|cell fate specification (GO:0001708)|cell maturation (GO:0048469)|cell-cell signaling (GO:0007267)|chondrocyte proliferation (GO:0035988)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic pattern specification (GO:0009880)|embryonic skeletal joint development (GO:0072498)|epithelial cell morphogenesis (GO:0003382)|epithelial cell-cell adhesion (GO:0090136)|head morphogenesis (GO:0060323)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|intein-mediated protein splicing (GO:0016539)|maternal process involved in female pregnancy (GO:0060135)|multicellular organism growth (GO:0035264)|negative regulation of alpha-beta T cell differentiation (GO:0046639)|negative regulation of apoptotic process (GO:0043066)|negative regulation of eye pigmentation (GO:0048074)|negative regulation of immature T cell proliferation in thymus (GO:0033088)|negative regulation of signal transduction (GO:0009968)|negative regulation of T cell differentiation in thymus (GO:0033085)|neuron development (GO:0048666)|osteoblast differentiation (GO:0001649)|pancreas development (GO:0031016)|patterning of blood vessels (GO:0001569)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of T cell differentiation in thymus (GO:0033089)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proteoglycan metabolic process (GO:0006029)|regulation of growth (GO:0040008)|response to estradiol (GO:0032355)|retinal pigment epithelium development (GO:0003406)|skeletal system development (GO:0001501)|smooth muscle tissue development (GO:0048745)|smoothened signaling pathway (GO:0007224)|somite development (GO:0061053)|vitelline membrane formation (GO:0030704)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|patched binding (GO:0005113)|peptidase activity (GO:0008233)			breast(1)|endometrium(2)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	14		Renal(207;0.0915)		Epithelial(149;1.13e-06)|all cancers(144;0.000188)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CAGGCAGAAGTGCAGTCGGGG	0.761																																						ENST00000295731.5																			0				breast(1)|endometrium(2)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	14						c.(31-33)cAc>cGc		indian hedgehog							6	7	7					2																	219925158		1880	3813	5693	SO:0001583	missense	3549				cell-cell signaling|intein-mediated protein splicing|proteolysis	extracellular space|plasma membrane	cholesterol binding|patched binding|peptidase activity	g.chr2:219925158T>C	L38517	CCDS33380.1	2q33-q35	2013-02-15	2013-02-15		ENSG00000163501	ENSG00000163501			5956	protein-coding gene	gene with protein product		600726	"Indian hedgehog (Drosophila) homolog", "Indian hedgehog homolog (Drosophila)"			7590746, 14770182	Standard	NM_002181		Approved	HHG2, BDA1	uc002vjo.2	Q14623	OTTHUMG00000154631	ENST00000295731.6:c.32A>G	2.37:g.219925158T>C	ENSP00000295731:p.His11Arg						p.H11R	NM_002181.3	NP_002172.2	Q14623	IHH_HUMAN		Epithelial(149;1.13e-06)|all cancers(144;0.000188)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	1	31	-		Renal(207;0.0915)	11					B9EGM5|O43322|Q8N4B9	Missense_Mutation	SNP	ENST00000295731.6	37	c.32A>G	CCDS33380.1	.	.	.	.	.	.	.	.	.	.	T	4.884	0.164352	0.09287	.	.	ENSG00000163501	ENST00000295731	D	0.99735	-6.58	4.38	-0.0956	0.13640	.	1.209660	0.06188	N	0.680767	D	0.96106	0.8731	N	0.01352	-0.895	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	D	0.97148	0.9829	10	0.25106	T	0.35	-2.5294	2.3813	0.04355	0.1514:0.5198:0.1475:0.1812	.	11	Q14623	IHH_HUMAN	R	11	ENSP00000295731:H11R	ENSP00000295731:H11R	H	-	2	0	IHH	219633402	0.014000	0.17966	0.660000	0.29694	0.768000	0.43524	-0.004000	0.12878	-0.311000	0.08754	-0.635000	0.03985	CAC		0.761	IHH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336408.2	NM_002181		5	5	0	0	0	1	0	5	5					C	219925158	T	C	219925158	3	2	435	1	0	0	0	0	1	0	0	0	7607	1696	59	4	1215	4	IHH	2	219925158	Missense_Mutation	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	178191	219925158	23274215	1525	22450											
ATG9A	79065	broad.mit.edu	37	chr2	220089410	220089410	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaggcggaagcgcagaggcAggagggatttgttaaccagt	11	6	17	7	2	0	1	0	0	0	1	0	4	0	4	1	5	2	4	1	5	2	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:220089410A>G	ENST00000409618.1	-	8	1122	c.683T>C	c.(682-684)cTg>cCg	p.L228P	ATG9A_ENST00000396761.2_Missense_Mutation_p.L228P|ATG9A_ENST00000361242.4_Missense_Mutation_p.L228P|ATG9A_ENST00000409422.1_Missense_Mutation_p.L167P|ATG9A_ENST00000488833.1_5'Flank|AC068946.1_ENST00000408417.1_RNA			Q7Z3C6	ATG9A_HUMAN	autophagy related 9A	228					autophagic vacuole assembly (GO:0000045)|late nucleophagy (GO:0044805)|mitochondrion degradation (GO:0000422)|piecemeal microautophagy of nucleus (GO:0034727)|protein localization to pre-autophagosomal structure (GO:0034497)|protein transport (GO:0015031)	autophagic vacuole (GO:0005776)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|membrane (GO:0016020)|pre-autophagosomal structure (GO:0000407)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802)				endometrium(2)|large_intestine(5)|lung(3)|prostate(1)|skin(1)|stomach(1)	13		Renal(207;0.0474)		Epithelial(149;1.37e-06)|all cancers(144;0.000222)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GCGCAGAGGCAGGAGGGATTT	0.552																																						ENST00000409618.1																			0				endometrium(2)|large_intestine(5)|lung(3)|prostate(1)|skin(1)|stomach(1)	13						c.(682-684)cTg>cCg		autophagy related 9A							90	95	93					2																	220089410		2107	4235	6342	SO:0001583	missense	79065				autophagic vacuole assembly|protein transport	autophagic vacuole membrane|cytoplasmic vesicle|Golgi apparatus|integral to membrane|late endosome membrane		g.chr2:220089410A>G	AK021732	CCDS42820.1	2q35	2014-02-12	2012-06-06	2005-09-11	ENSG00000198925	ENSG00000198925			22408	protein-coding gene	gene with protein product		612204	"APG9 autophagy 9-like 1 (S. cerevisiae)", "ATG9 autophagy related 9 homolog A (S. cerevisiae)"	APG9L1			Standard	NM_024085		Approved	FLJ22169	uc002vkf.1	Q7Z3C6	OTTHUMG00000154557	ENST00000409618.1:c.683T>C	2.37:g.220089410A>G	ENSP00000386710:p.Leu228Pro					ATG9A_ENST00000361242.4_Missense_Mutation_p.L228P|ATG9A_ENST00000409422.1_Missense_Mutation_p.L167P|ATG9A_ENST00000396761.2_Missense_Mutation_p.L228P	p.L228P			Q7Z3C6	ATG9A_HUMAN		Epithelial(149;1.37e-06)|all cancers(144;0.000222)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	8	1122	-		Renal(207;0.0474)	228					Q3ZAQ6|Q6P0N7|Q7Z317|Q7Z320|Q8NDK6|Q8WU65|Q9BVL5|Q9H6L1|Q9HAG7	Missense_Mutation	SNP	ENST00000409618.1	37	c.683T>C	CCDS42820.1	.	.	.	.	.	.	.	.	.	.	A	18.15	3.559662	0.65538	.	.	ENSG00000198925	ENST00000396761;ENST00000409618;ENST00000361242;ENST00000409422;ENST00000431715	T;T;T;T	0.60548	0.57;0.57;0.57;0.18	5.11	5.11	0.69529	.	0.000000	0.64402	D	0.000001	T	0.81014	0.4735	H	0.94183	3.505	0.80722	D	1	D	0.63046	0.992	D	0.64144	0.922	D	0.86747	0.1958	10	0.87932	D	0	.	14.5761	0.68249	1.0:0.0:0.0:0.0	.	228	Q7Z3C6	ATG9A_HUMAN	P	228;228;228;167;132	ENSP00000379983:L228P;ENSP00000386710:L228P;ENSP00000355173:L228P;ENSP00000386535:L167P	ENSP00000355173:L228P	L	-	2	0	ATG9A	219797654	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.293000	0.96082	1.917000	0.55516	0.533000	0.62120	CTG		0.552	ATG9A-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335930.1	NM_024085		23	31	0	0	0	1	0	23	31					G	220089410	A	G	220089410	3	3	435	1	0	0	0	0	1	0	0	0	1102	188	7	4	1872	4	ATG9A	2	220089410	Missense_Mutation	SNP	A	TCGA-XK-AAIW-01A-11D-A41K-08	164252	220089410	23109963	1526	22451											
ATG9A	79065	broad.mit.edu	37	chr2	220091656	220091656	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctggtgcagattataaacGtgtaattgttaagaaaaagt	15	14	9	3	1	1	2	0	0	1	2	1	2	1	2	0	1	2	3	0	1	7	6			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:220091656G>A	ENST00000409618.1	-	5	587		c.e5-1		ATG9A_ENST00000396761.2_Splice_Site|ANKZF1_ENST00000409849.1_5'Flank|ANKZF1_ENST00000410034.3_5'Flank|ANKZF1_ENST00000323348.5_5'Flank|ATG9A_ENST00000361242.4_Splice_Site|ATG9A_ENST00000409422.1_Splice_Site|ATG9A_ENST00000488833.1_Splice_Site|AC068946.1_ENST00000408417.1_RNA			Q7Z3C6	ATG9A_HUMAN	autophagy related 9A						autophagic vacuole assembly (GO:0000045)|late nucleophagy (GO:0044805)|mitochondrion degradation (GO:0000422)|piecemeal microautophagy of nucleus (GO:0034727)|protein localization to pre-autophagosomal structure (GO:0034497)|protein transport (GO:0015031)	autophagic vacuole (GO:0005776)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|membrane (GO:0016020)|pre-autophagosomal structure (GO:0000407)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802)				endometrium(2)|large_intestine(5)|lung(3)|prostate(1)|skin(1)|stomach(1)	13		Renal(207;0.0474)		Epithelial(149;1.37e-06)|all cancers(144;0.000222)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GATTATAAACGTGTAATTGTT	0.408																																						ENST00000409618.1																			0				endometrium(2)|large_intestine(5)|lung(3)|prostate(1)|skin(1)|stomach(1)	13						c.e5-1		autophagy related 9A							88	83	85					2																	220091656		1896	4114	6010	SO:0001630	splice_region_variant	79065				autophagic vacuole assembly|protein transport	autophagic vacuole membrane|cytoplasmic vesicle|Golgi apparatus|integral to membrane|late endosome membrane		g.chr2:220091656G>A	AK021732	CCDS42820.1	2q35	2014-02-12	2012-06-06	2005-09-11	ENSG00000198925	ENSG00000198925			22408	protein-coding gene	gene with protein product		612204	"APG9 autophagy 9-like 1 (S. cerevisiae)", "ATG9 autophagy related 9 homolog A (S. cerevisiae)"	APG9L1			Standard	NM_024085		Approved	FLJ22169	uc002vkf.1	Q7Z3C6	OTTHUMG00000154557	ENST00000409618.1:c.148-1C>T	2.37:g.220091656G>A						ATG9A_ENST00000361242.4_Splice_Site|ATG9A_ENST00000409422.1_Splice_Site|ATG9A_ENST00000488833.1_Splice_Site|ATG9A_ENST00000396761.2_Splice_Site				Q7Z3C6	ATG9A_HUMAN		Epithelial(149;1.37e-06)|all cancers(144;0.000222)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	5	587	-		Renal(207;0.0474)						Q3ZAQ6|Q6P0N7|Q7Z317|Q7Z320|Q8NDK6|Q8WU65|Q9BVL5|Q9H6L1|Q9HAG7	Splice_Site	SNP	ENST00000409618.1	37		CCDS42820.1	.	.	.	.	.	.	.	.	.	.	G	17.70	3.453302	0.63290	.	.	ENSG00000198925	ENST00000396761;ENST00000409618;ENST00000361242;ENST00000436856;ENST00000457841;ENST00000428226;ENST00000432520;ENST00000439812;ENST00000443140;ENST00000434939	.	.	.	5.15	5.15	0.70609	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.4363	0.67282	0.0:0.147:0.853:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ATG9A	219799900	1.000000	0.71417	0.997000	0.53966	0.857000	0.48899	6.325000	0.72901	2.677000	0.91161	0.491000	0.48974	.		0.408	ATG9A-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335930.1	NM_024085	Intron	13	32	0	0	0	1	0	13	32					A	220091656	G	A	220091656	5	1	435	1	0	0	0	0	0	0	1	0	1102	1159	40	1	2420	1	ATG9A	2	220091656	Splice_Site	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	2246	220091656	23107717	1527	22452											
STK16	8576	broad.mit.edu	37	chr2	220112402	220112402	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggactgggcagcccagcggTgcaccatctcctaccgagcc	8	5	12	16	2	1	0	0	0	1	0	2	2	1	1	5	3	5	2	5	3	1	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:220112402T>C	ENST00000409638.3	+	6	752	c.580T>C	c.(580-582)Tgc>Cgc	p.C194R	STK16_ENST00000409516.3_Missense_Mutation_p.C76R|STK16_ENST00000409260.1_Missense_Mutation_p.C239R|GLB1L_ENST00000392089.2_5'Flank|GLB1L_ENST00000356283.3_5'Flank|STK16_ENST00000396738.2_Missense_Mutation_p.C194R|GLB1L_ENST00000295759.7_5'Flank|STK16_ENST00000409743.1_Intron	NM_001008910.2	NP_001008910.1	O75716	STK16_HUMAN	serine/threonine kinase 16	194	Activation loop.|Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular response to transforming growth factor beta stimulus (GO:0071560)|protein autophosphorylation (GO:0046777)	Golgi-associated vesicle (GO:0005798)|membrane (GO:0016020)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein serine/threonine kinase activity (GO:0004674)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			skin(1)	1		Renal(207;0.0474)		Epithelial(149;1.2e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AGCCCAGCGGTGCACCATCTC	0.577																																					Pancreas(34;887 922 17165 36961 39622)	ENST00000409638.3																			0				skin(1)	1						c.(580-582)Tgc>Cgc		serine/threonine kinase 16							49	48	48					2																	220112402		2005	4167	6172	SO:0001583	missense	8576				protein complex assembly	membrane	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr2:220112402T>C	AF060798	CCDS42822.1	2q35	2010-04-16			ENSG00000115661	ENSG00000115661			11394	protein-coding gene	gene with protein product		604719				9712705	Standard	NM_001008910		Approved	PKL12, MPSK	uc002vko.2	O75716	OTTHUMG00000154520	ENST00000409638.3:c.580T>C	2.37:g.220112402T>C	ENSP00000386928:p.Cys194Arg					STK16_ENST00000409260.1_Missense_Mutation_p.C239R|STK16_ENST00000409516.3_Missense_Mutation_p.C76R|STK16_ENST00000409743.1_Intron|STK16_ENST00000396738.2_Missense_Mutation_p.C194R	p.C194R	NM_001008910.2	NP_001008910.1	O75716	STK16_HUMAN		Epithelial(149;1.2e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	6	752	+		Renal(207;0.0474)	194			Protein kinase.		A8K9H9|Q5U0F8|Q96KI2|Q9BUH4|Q9UEN3|Q9UP78	Missense_Mutation	SNP	ENST00000409638.3	37	c.580T>C	CCDS42822.1	.	.	.	.	.	.	.	.	.	.	T	18.91	3.724474	0.68959	.	.	ENSG00000115661	ENST00000409638;ENST00000396738;ENST00000409516;ENST00000409260	T;T;T;T	0.73363	2.12;2.12;-0.74;-0.74	5.28	5.28	0.74379	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.88127	0.6353	M	0.89353	3.025	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.90443	0.4433	10	0.87932	D	0	-12.8457	15.3773	0.74621	0.0:0.0:0.0:1.0	.	76;239;194	B4DPS1;B8ZZN3;O75716	.;.;STK16_HUMAN	R	194;194;76;239	ENSP00000386928:C194R;ENSP00000379964:C194R;ENSP00000386309:C76R;ENSP00000387156:C239R	ENSP00000379964:C194R	C	+	1	0	STK16	219820646	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.518000	0.81795	2.216000	0.71823	0.533000	0.62120	TGC		0.577	STK16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335679.1			9	11	0	0	0	1	0	9	11					C	220112402	T	C	220112402	3	2	435	1	0	0	0	0	1	0	0	0	15288	1696	59	4	598	4	STK16	2	220112402	Missense_Mutation	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	20746	220112402	23086971	1528	22453											
PTPRN	5798	broad.mit.edu	37	chr2	220161053	220161053	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atgacgatgacggtgcagccGctctcccacaccatctaggg	9	7	11	14	3	2	2	0	2	2	0	3	3	2	2	3	2	2	2	3	2	1	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:220161053G>A	ENST00000295718.2	-	18	2643	c.2403C>T	c.(2401-2403)agC>agT	p.S801S	PTPRN_ENST00000423636.2_Silent_p.S711S|PTPRN_ENST00000497977.1_5'UTR|AC114803.3_ENST00000417355.1_RNA|PTPRN_ENST00000409251.3_Silent_p.S772S|MIR153-1_ENST00000384914.1_RNA	NM_002846.3	NP_002837.1	Q16849	PTPRN_HUMAN	protein tyrosine phosphatase, receptor type, N	801	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				cytokine-mediated signaling pathway (GO:0019221)|peptidyl-tyrosine dephosphorylation (GO:0035335)|response to cAMP (GO:0051591)|response to estrogen (GO:0043627)|response to glucose (GO:0009749)|response to insulin (GO:0032868)|response to reactive oxygen species (GO:0000302)	integral component of plasma membrane (GO:0005887)	spectrin binding (GO:0030507)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(3)|prostate(4)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Renal(207;0.0474)		Epithelial(149;4.22e-07)|all cancers(144;8.82e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)|STAD - Stomach adenocarcinoma(1183;0.0875)		CGGTGCAGCCGCTCTCCCACA	0.607																																						ENST00000295718.2																			0				breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(3)|prostate(4)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						c.(2401-2403)agC>agT		protein tyrosine phosphatase, receptor type, N							118	102	108					2																	220161053		2203	4300	6503	SO:0001819	synonymous_variant	5798				response to reactive oxygen species	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity	g.chr2:220161053G>A		CCDS2440.1, CCDS56167.1, CCDS56168.1	2q35-q36.1	2011-06-09			ENSG00000054356	ENSG00000054356		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"	9676	protein-coding gene	gene with protein product		601773				8024693	Standard	NM_001199763		Approved	IA-2	uc002vkz.3	Q16849	OTTHUMG00000133129	ENST00000295718.2:c.2403C>T	2.37:g.220161053G>A						PTPRN_ENST00000423636.2_Silent_p.S711S|PTPRN_ENST00000409251.3_Silent_p.S772S|PTPRN_ENST00000497977.1_5'UTR	p.S801S	NM_002846.3	NP_002837.1	Q16849	PTPRN_HUMAN		Epithelial(149;4.22e-07)|all cancers(144;8.82e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)|STAD - Stomach adenocarcinoma(1183;0.0875)	18	2643	-		Renal(207;0.0474)	801			Tyrosine-protein phosphatase.		B4DK12|F5GZS3|Q08319|Q53QD6|Q6NSL1	Silent	SNP	ENST00000295718.2	37	c.2403C>T	CCDS2440.1	.	.	.	.	.	.	.	.	.	.	G	8.001	0.755506	0.15846	.	.	ENSG00000054356	ENST00000443981	.	.	.	4.66	-0.4	0.12411	.	.	.	.	.	T	0.55673	0.1935	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.49000	-0.8984	4	.	.	.	.	9.5615	0.39371	0.7517:0.0:0.2483:0.0	.	.	.	.	V	4	.	.	A	-	2	0	PTPRN	219869297	0.995000	0.38212	0.996000	0.52242	0.974000	0.67602	0.455000	0.21843	-0.146000	0.11274	-1.099000	0.02127	GCG		0.607	PTPRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256819.2			27	33	0	0	0	1	0	27	33					A	220161053	G	A	220161053	2	1	435	1	0	0	0	0	0	0	0	1	12807	1078	38	1		1	PTPRN	2	220161053	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	48651	220161053	23038320	1529	22454											
PTPRN	5798	broad.mit.edu	37	chr2	220164504	220164504	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cactcctgcagccaggctcaGgggcctggagatgggagaag	9	5	16	11	0	1	2	1	0	0	2	2	4	2	2	3	5	2	2	3	5	1	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:220164504G>T	ENST00000295718.2	-	10	1681	c.1441C>A	c.(1441-1443)Ctg>Atg	p.L481M	PTPRN_ENST00000423636.2_Missense_Mutation_p.L391M|AC114803.3_ENST00000417355.1_RNA|PTPRN_ENST00000409251.3_Intron	NM_002846.3	NP_002837.1	Q16849	PTPRN_HUMAN	protein tyrosine phosphatase, receptor type, N	481					cytokine-mediated signaling pathway (GO:0019221)|peptidyl-tyrosine dephosphorylation (GO:0035335)|response to cAMP (GO:0051591)|response to estrogen (GO:0043627)|response to glucose (GO:0009749)|response to insulin (GO:0032868)|response to reactive oxygen species (GO:0000302)	integral component of plasma membrane (GO:0005887)	spectrin binding (GO:0030507)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(3)|prostate(4)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Renal(207;0.0474)		Epithelial(149;4.22e-07)|all cancers(144;8.82e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)|STAD - Stomach adenocarcinoma(1183;0.0875)		GCCAGGCTCAGGGGCCTGGAG	0.577																																						ENST00000295718.2																			0				breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(3)|prostate(4)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						c.(1441-1443)Ctg>Atg		protein tyrosine phosphatase, receptor type, N							46	44	44					2																	220164504		2203	4300	6503	SO:0001583	missense	5798				response to reactive oxygen species	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity	g.chr2:220164504G>T		CCDS2440.1, CCDS56167.1, CCDS56168.1	2q35-q36.1	2011-06-09			ENSG00000054356	ENSG00000054356		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"	9676	protein-coding gene	gene with protein product		601773				8024693	Standard	NM_001199763		Approved	IA-2	uc002vkz.3	Q16849	OTTHUMG00000133129	ENST00000295718.2:c.1441C>A	2.37:g.220164504G>T	ENSP00000295718:p.Leu481Met					PTPRN_ENST00000423636.2_Missense_Mutation_p.L391M|AC114803.3_ENST00000417355.1_RNA|PTPRN_ENST00000409251.3_Intron	p.L481M	NM_002846.3	NP_002837.1	Q16849	PTPRN_HUMAN		Epithelial(149;4.22e-07)|all cancers(144;8.82e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)|STAD - Stomach adenocarcinoma(1183;0.0875)	10	1681	-		Renal(207;0.0474)	481					B4DK12|F5GZS3|Q08319|Q53QD6|Q6NSL1	Missense_Mutation	SNP	ENST00000295718.2	37	c.1441C>A	CCDS2440.1	.	.	.	.	.	.	.	.	.	.	G	18.31	3.595661	0.66219	.	.	ENSG00000054356	ENST00000295718;ENST00000537666	T;T	0.04360	3.65;3.64	5.49	2.72	0.32119	.	0.117195	0.33419	N	0.004933	T	0.15869	0.0382	M	0.69823	2.125	0.36973	D	0.893902	D	0.71674	0.998	D	0.75484	0.986	T	0.02156	-1.1204	10	0.62326	D	0.03	.	7.4701	0.27344	0.2027:0.1215:0.6758:0.0	.	481	Q16849	PTPRN_HUMAN	M	481;391	ENSP00000295718:L481M;ENSP00000444244:L391M	ENSP00000295718:L481M	L	-	1	2	PTPRN	219872748	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	2.332000	0.43903	0.697000	0.31718	-0.225000	0.12378	CTG		0.577	PTPRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256819.2			20	27	1	0	2.94398e-08	1	3.10271e-08	20	27					T	220164504	G	T	220164504	3	4	435	1	0	0	0	0	1	0	0	0	12807	991	35	5	1554	5	PTPRN	2	220164504	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	3451	220164504	23034869	1530	22455											
SLC4A3	6508	broad.mit.edu	37	chr2	220500496	220500496	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgtgcgggatgtgaggcgcCggtacccgcactaccccagt	6	8	14	13	4	0	1	0	1	0	0	0	2	0	2	4	3	3	2	4	3	2	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:220500496C>T	ENST00000358055.3	+	14	2586	c.2074C>T	c.(2074-2076)Cgg>Tgg	p.R692W	SLC4A3_ENST00000273063.6_Missense_Mutation_p.R719W|SLC4A3_ENST00000317151.3_Missense_Mutation_p.R692W|SLC4A3_ENST00000373762.3_Missense_Mutation_p.R719W|SLC4A3_ENST00000373760.2_Missense_Mutation_p.R692W			P48751	B3A3_HUMAN	solute carrier family 4 (anion exchanger), member 3	692					bicarbonate transport (GO:0015701)|ion transport (GO:0006811)|regulation of intracellular pH (GO:0051453)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	51		Renal(207;0.0183)		Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TGTGAGGCGCCGGTACCCGCA	0.627																																						ENST00000358055.3																			0				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	51						c.(2074-2076)Cgg>Tgg		solute carrier family 4 (anion exchanger), member 3							35	35	35					2																	220500496		2203	4300	6503	SO:0001583	missense	6508				bicarbonate transport	integral to plasma membrane|membrane fraction	inorganic anion exchanger activity	g.chr2:220500496C>T		CCDS2445.1, CCDS2446.1	2q35	2013-07-19	2013-07-19		ENSG00000114923	ENSG00000114923		"Solute carriers"	11029	protein-coding gene	gene with protein product	"Anion exchanger 3, neuronal"	106195	"solute carrier family 4, anion exchanger, member 3"			8001971	Standard	NM_005070		Approved	AE3, SLC2C	uc002vmo.4	P48751	OTTHUMG00000059238	ENST00000358055.3:c.2074C>T	2.37:g.220500496C>T	ENSP00000350756:p.Arg692Trp					SLC4A3_ENST00000373760.2_Missense_Mutation_p.R692W|SLC4A3_ENST00000373762.3_Missense_Mutation_p.R719W|SLC4A3_ENST00000273063.6_Missense_Mutation_p.R719W|SLC4A3_ENST00000317151.3_Missense_Mutation_p.R692W	p.R692W			P48751	B3A3_HUMAN		Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	14	2586	+		Renal(207;0.0183)	692					A6H8L2|A8K1Q9|B7ZVX6|B9EGD1|Q6YIQ9	Missense_Mutation	SNP	ENST00000358055.3	37	c.2074C>T	CCDS2445.1	.	.	.	.	.	.	.	.	.	.	C	24.2	4.504822	0.85176	.	.	ENSG00000114923	ENST00000358055;ENST00000373760;ENST00000273063;ENST00000373762;ENST00000317151	D;D;D;D;D	0.82081	-1.57;-1.57;-1.57;-1.57;-1.57	4.09	4.09	0.47781	Bicarbonate transporter, C-terminal (1);Anion exchange, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.92721	0.7686	H	0.94925	3.6	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.93974	0.7252	10	0.87932	D	0	.	11.9508	0.52954	0.219:0.781:0.0:0.0	.	396;692;719	P48751-2;P48751;P48751-3	.;B3A3_HUMAN;.	W	692;692;719;719;692	ENSP00000350756:R692W;ENSP00000362865:R692W;ENSP00000273063:R719W;ENSP00000362867:R719W;ENSP00000314006:R692W	ENSP00000273063:R719W	R	+	1	2	SLC4A3	220208740	0.975000	0.34042	0.999000	0.59377	0.998000	0.95712	2.466000	0.45084	2.264000	0.75181	0.643000	0.83706	CGG		0.627	SLC4A3-009	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316472.1	NM_005070		5	7	0	0	0	1	0	5	7					T	220500496	C	T	220500496	3	4	435	1	0	0	0	0	1	0	0	0	14655	643	23	2	2205	2	SLC4A3	2	220500496	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	335992	220500496	22698877	1531	22456											
SLC4A3	6508	broad.mit.edu	37	chr2	220505562	220505562	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcatccagctgggctgcatcGcactgctctgggtggtcaag	6	9	14	12	1	2	0	1	0	1	0	4	0	3	0	1	3	3	6	1	3	1	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:220505562G>A	ENST00000358055.3	+	22	4011	c.3499G>A	c.(3499-3501)Gca>Aca	p.A1167T	SLC4A3_ENST00000273063.6_Missense_Mutation_p.A1194T|SLC4A3_ENST00000317151.3_Missense_Mutation_p.A1167T|SLC4A3_ENST00000373762.3_Missense_Mutation_p.A1194T|SLC4A3_ENST00000373760.2_Missense_Mutation_p.A1167T			P48751	B3A3_HUMAN	solute carrier family 4 (anion exchanger), member 3	1167	Membrane (anion exchange).				bicarbonate transport (GO:0015701)|ion transport (GO:0006811)|regulation of intracellular pH (GO:0051453)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	51		Renal(207;0.0183)		Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GGGCTGCATCGCACTGCTCTG	0.652																																						ENST00000358055.3																			0				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	51						c.(3499-3501)Gca>Aca		solute carrier family 4 (anion exchanger), member 3							72	57	62					2																	220505562		2203	4300	6503	SO:0001583	missense	6508				bicarbonate transport	integral to plasma membrane|membrane fraction	inorganic anion exchanger activity	g.chr2:220505562G>A		CCDS2445.1, CCDS2446.1	2q35	2013-07-19	2013-07-19		ENSG00000114923	ENSG00000114923		"Solute carriers"	11029	protein-coding gene	gene with protein product	"Anion exchanger 3, neuronal"	106195	"solute carrier family 4, anion exchanger, member 3"			8001971	Standard	NM_005070		Approved	AE3, SLC2C	uc002vmo.4	P48751	OTTHUMG00000059238	ENST00000358055.3:c.3499G>A	2.37:g.220505562G>A	ENSP00000350756:p.Ala1167Thr					SLC4A3_ENST00000373760.2_Missense_Mutation_p.A1167T|SLC4A3_ENST00000373762.3_Missense_Mutation_p.A1194T|SLC4A3_ENST00000273063.6_Missense_Mutation_p.A1194T|SLC4A3_ENST00000317151.3_Missense_Mutation_p.A1167T	p.A1167T			P48751	B3A3_HUMAN		Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	22	4011	+		Renal(207;0.0183)	1167			Membrane (anion exchange).		A6H8L2|A8K1Q9|B7ZVX6|B9EGD1|Q6YIQ9	Missense_Mutation	SNP	ENST00000358055.3	37	c.3499G>A	CCDS2445.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.161417	0.78226	.	.	ENSG00000114923	ENST00000358055;ENST00000373760;ENST00000273063;ENST00000373762;ENST00000317151	T;T;T;T;T	0.70399	-0.48;-0.48;-0.48;-0.48;-0.48	4.83	4.83	0.62350	.	0.203429	0.40908	D	0.000993	T	0.67942	0.2947	L	0.53729	1.69	0.39415	D	0.966825	B;P;P	0.51537	0.301;0.607;0.946	B;B;B	0.40864	0.077;0.122;0.342	T	0.75105	-0.3435	10	0.54805	T	0.06	.	18.3098	0.90195	0.0:0.0:1.0:0.0	.	871;1167;1194	P48751-2;P48751;P48751-3	.;B3A3_HUMAN;.	T	1167;1167;1194;1194;1167	ENSP00000350756:A1167T;ENSP00000362865:A1167T;ENSP00000273063:A1194T;ENSP00000362867:A1194T;ENSP00000314006:A1167T	ENSP00000273063:A1194T	A	+	1	0	SLC4A3	220213806	0.998000	0.40836	0.751000	0.31187	0.990000	0.78478	7.841000	0.86834	2.396000	0.81511	0.563000	0.77884	GCA		0.652	SLC4A3-009	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316472.1	NM_005070		8	17	0	0	0	1	0	8	17					A	220505562	G	A	220505562	3	1	435	1	0	0	0	0	1	0	0	0	14655	1087	38	1	3662	1	SLC4A3	2	220505562	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	5066	220505562	22693811	1532	22457											
EPHA4	2043	broad.mit.edu	37	chr2	222291329	222291329	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagcttggatccaacaaggCagtgttaggtctagaaagag	13	8	14	6	0	1	2	0	0	1	2	2	4	2	4	1	4	2	3	1	4	5	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:222291329C>T	ENST00000281821.2	-	16	2742	c.2701G>A	c.(2701-2703)Gcc>Acc	p.A901T	EPHA4_ENST00000409938.1_Missense_Mutation_p.A901T|EPHA4_ENST00000392071.4_Missense_Mutation_p.A850T|EPHA4_ENST00000409854.1_Missense_Mutation_p.A901T|EPHA4_ENST00000469354.1_5'Flank	NM_004438.3	NP_004429.1	P54764	EPHA4_HUMAN	EPH receptor A4	901					adult walking behavior (GO:0007628)|cell adhesion (GO:0007155)|corticospinal tract morphogenesis (GO:0021957)|fasciculation of motor neuron axon (GO:0097156)|fasciculation of sensory neuron axon (GO:0097155)|glial cell migration (GO:0008347)|motor neuron axon guidance (GO:0008045)|negative regulation of axon regeneration (GO:0048681)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of Rho guanyl-nucleotide exchange factor activity (GO:2001108)|protein autophosphorylation (GO:0046777)|regulation of astrocyte differentiation (GO:0048710)|regulation of axonogenesis (GO:0050770)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of Rac GTPase activity (GO:0032314)|regulation of Rap GTPase activity (GO:0032317)	axon (GO:0030424)|axon terminus (GO:0043679)|axonal growth cone (GO:0044295)|cell junction (GO:0030054)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|mitochondrial outer membrane (GO:0005741)|neuromuscular junction (GO:0031594)|perikaryon (GO:0043204)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	ATP binding (GO:0005524)|DH domain binding (GO:0097161)|GPI-linked ephrin receptor activity (GO:0005004)|PH domain binding (GO:0042731)|protein kinase activity (GO:0004672)|transmembrane-ephrin receptor activity (GO:0005005)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Renal(207;0.0183)		Epithelial(121;5.38e-09)|all cancers(144;2.47e-06)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(261;0.0154)		TCCAACAAGGCAGTGTTAGGT	0.458																																						ENST00000281821.2																			0				NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49						c.(2701-2703)Gcc>Acc		EPH receptor A4							43	43	43					2																	222291329		2203	4300	6503	SO:0001583	missense	2043					integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr2:222291329C>T	L36645	CCDS2447.1	2q36.3	2013-02-11	2004-10-28		ENSG00000116106	ENSG00000116106	2.7.10.1	"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3388	protein-coding gene	gene with protein product		602188	"EphA4"	TYRO1		9267020	Standard	NM_004438		Approved	Hek8	uc002vmq.3	P54764	OTTHUMG00000133142	ENST00000281821.2:c.2701G>A	2.37:g.222291329C>T	ENSP00000281821:p.Ala901Thr					EPHA4_ENST00000409938.1_Missense_Mutation_p.A901T|EPHA4_ENST00000409854.1_Missense_Mutation_p.A901T|EPHA4_ENST00000392071.4_Missense_Mutation_p.A850T	p.A901T	NM_004438.3	NP_004429.1	P54764	EPHA4_HUMAN		Epithelial(121;5.38e-09)|all cancers(144;2.47e-06)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(261;0.0154)	16	2742	-		Renal(207;0.0183)	901					A8K2P1|B2R601|B7Z6Q8|Q2M380	Missense_Mutation	SNP	ENST00000281821.2	37	c.2701G>A	CCDS2447.1	.	.	.	.	.	.	.	.	.	.	C	10.64	1.408390	0.25378	.	.	ENSG00000116106	ENST00000281821;ENST00000409854;ENST00000409938;ENST00000392071	T;T;T;T	0.62105	0.05;0.05;0.05;0.05	5.77	5.77	0.91146	Protein kinase-like domain (1);	0.215683	0.48767	D	0.000178	T	0.47432	0.1445	N	0.10972	0.075	0.58432	D	0.999998	B	0.02656	0.0	B	0.01281	0.0	T	0.32241	-0.9914	10	0.36615	T	0.2	.	19.9915	0.97366	0.0:1.0:0.0:0.0	.	901	P54764	EPHA4_HUMAN	T	901;901;901;850	ENSP00000281821:A901T;ENSP00000386276:A901T;ENSP00000386829:A901T;ENSP00000375923:A850T	ENSP00000281821:A901T	A	-	1	0	EPHA4	221999573	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	3.034000	0.49751	2.723000	0.93209	0.655000	0.94253	GCC		0.458	EPHA4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256836.3			11	16	0	0	0	1	0	11	16					T	222291329	C	T	222291329	3	4	435	1	0	0	0	0	1	0	0	0	5169	710	25	3	267	3	EPHA4	2	222291329	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	1785767	222291329	20908044	1533	22458											
EPHA4	2043	broad.mit.edu	37	chr2	222294822	222294822	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctggtggagcgcaatggggCagtccattggagggggtaac	8	7	19	7	1	0	0	0	0	0	0	1	2	1	2	1	7	2	4	1	7	2	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:222294822C>T	ENST00000281821.2	-	15	2587	c.2546G>A	c.(2545-2547)tGc>tAc	p.C849Y	EPHA4_ENST00000409938.1_Missense_Mutation_p.C849Y|EPHA4_ENST00000392071.4_Missense_Mutation_p.C798Y|EPHA4_ENST00000409854.1_Missense_Mutation_p.C849Y	NM_004438.3	NP_004429.1	P54764	EPHA4_HUMAN	EPH receptor A4	849	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				adult walking behavior (GO:0007628)|cell adhesion (GO:0007155)|corticospinal tract morphogenesis (GO:0021957)|fasciculation of motor neuron axon (GO:0097156)|fasciculation of sensory neuron axon (GO:0097155)|glial cell migration (GO:0008347)|motor neuron axon guidance (GO:0008045)|negative regulation of axon regeneration (GO:0048681)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of Rho guanyl-nucleotide exchange factor activity (GO:2001108)|protein autophosphorylation (GO:0046777)|regulation of astrocyte differentiation (GO:0048710)|regulation of axonogenesis (GO:0050770)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of Rac GTPase activity (GO:0032314)|regulation of Rap GTPase activity (GO:0032317)	axon (GO:0030424)|axon terminus (GO:0043679)|axonal growth cone (GO:0044295)|cell junction (GO:0030054)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|mitochondrial outer membrane (GO:0005741)|neuromuscular junction (GO:0031594)|perikaryon (GO:0043204)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	ATP binding (GO:0005524)|DH domain binding (GO:0097161)|GPI-linked ephrin receptor activity (GO:0005004)|PH domain binding (GO:0042731)|protein kinase activity (GO:0004672)|transmembrane-ephrin receptor activity (GO:0005005)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Renal(207;0.0183)		Epithelial(121;5.38e-09)|all cancers(144;2.47e-06)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(261;0.0154)		CGCAATGGGGCAGTCCATTGG	0.512																																						ENST00000281821.2																			0				NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49						c.(2545-2547)tGc>tAc		EPH receptor A4							119	109	113					2																	222294822		2203	4300	6503	SO:0001583	missense	2043					integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr2:222294822C>T	L36645	CCDS2447.1	2q36.3	2013-02-11	2004-10-28		ENSG00000116106	ENSG00000116106	2.7.10.1	"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3388	protein-coding gene	gene with protein product		602188	"EphA4"	TYRO1		9267020	Standard	NM_004438		Approved	Hek8	uc002vmq.3	P54764	OTTHUMG00000133142	ENST00000281821.2:c.2546G>A	2.37:g.222294822C>T	ENSP00000281821:p.Cys849Tyr					EPHA4_ENST00000409938.1_Missense_Mutation_p.C849Y|EPHA4_ENST00000409854.1_Missense_Mutation_p.C849Y|EPHA4_ENST00000392071.4_Missense_Mutation_p.C798Y	p.C849Y	NM_004438.3	NP_004429.1	P54764	EPHA4_HUMAN		Epithelial(121;5.38e-09)|all cancers(144;2.47e-06)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(261;0.0154)	15	2587	-		Renal(207;0.0183)	849			Protein kinase.		A8K2P1|B2R601|B7Z6Q8|Q2M380	Missense_Mutation	SNP	ENST00000281821.2	37	c.2546G>A	CCDS2447.1	.	.	.	.	.	.	.	.	.	.	C	28.2	4.902956	0.92035	.	.	ENSG00000116106	ENST00000281821;ENST00000409854;ENST00000409938;ENST00000392071	D;D;D;D	0.84442	-1.85;-1.85;-1.85;-1.85	5.93	5.93	0.95920	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.94069	0.8099	M	0.89287	3.02	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.94209	0.7457	10	0.87932	D	0	.	20.3539	0.98825	0.0:1.0:0.0:0.0	.	849	P54764	EPHA4_HUMAN	Y	849;849;849;798	ENSP00000281821:C849Y;ENSP00000386276:C849Y;ENSP00000386829:C849Y;ENSP00000375923:C798Y	ENSP00000281821:C849Y	C	-	2	0	EPHA4	222003066	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.818000	0.86416	2.826000	0.97356	0.655000	0.94253	TGC		0.512	EPHA4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256836.3			25	40	0	0	0	1	0	25	40					T	222294822	C	T	222294822	3	4	435	1	0	0	0	0	1	0	0	0	5169	710	25	3	426	3	EPHA4	2	222294822	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	3493	222294822	20904551	1534	22459											
EPHA4	2043	broad.mit.edu	37	chr2	222307708	222307708	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgccaggcactttgagacGcccactgcatacctcaccaa	10	8	7	16	1	1	1	1	1	0	1	1	2	1	1	4	1	3	2	4	1	2	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:222307708G>A	ENST00000281821.2	-	11	1956	c.1915C>T	c.(1915-1917)Cgt>Tgt	p.R639C	EPHA4_ENST00000409938.1_Missense_Mutation_p.R639C|EPHA4_ENST00000392071.4_Missense_Mutation_p.R588C|EPHA4_ENST00000409854.1_Missense_Mutation_p.R639C	NM_004438.3	NP_004429.1	P54764	EPHA4_HUMAN	EPH receptor A4	639	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				adult walking behavior (GO:0007628)|cell adhesion (GO:0007155)|corticospinal tract morphogenesis (GO:0021957)|fasciculation of motor neuron axon (GO:0097156)|fasciculation of sensory neuron axon (GO:0097155)|glial cell migration (GO:0008347)|motor neuron axon guidance (GO:0008045)|negative regulation of axon regeneration (GO:0048681)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of Rho guanyl-nucleotide exchange factor activity (GO:2001108)|protein autophosphorylation (GO:0046777)|regulation of astrocyte differentiation (GO:0048710)|regulation of axonogenesis (GO:0050770)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of Rac GTPase activity (GO:0032314)|regulation of Rap GTPase activity (GO:0032317)	axon (GO:0030424)|axon terminus (GO:0043679)|axonal growth cone (GO:0044295)|cell junction (GO:0030054)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|mitochondrial outer membrane (GO:0005741)|neuromuscular junction (GO:0031594)|perikaryon (GO:0043204)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	ATP binding (GO:0005524)|DH domain binding (GO:0097161)|GPI-linked ephrin receptor activity (GO:0005004)|PH domain binding (GO:0042731)|protein kinase activity (GO:0004672)|transmembrane-ephrin receptor activity (GO:0005005)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Renal(207;0.0183)		Epithelial(121;5.38e-09)|all cancers(144;2.47e-06)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(261;0.0154)		ACTTTGAGACGCCCACTGCAT	0.443																																						ENST00000281821.2																			0				NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49						c.(1915-1917)Cgt>Tgt		EPH receptor A4							123	120	121					2																	222307708		2203	4300	6503	SO:0001583	missense	2043					integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr2:222307708G>A	L36645	CCDS2447.1	2q36.3	2013-02-11	2004-10-28		ENSG00000116106	ENSG00000116106	2.7.10.1	"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3388	protein-coding gene	gene with protein product		602188	"EphA4"	TYRO1		9267020	Standard	NM_004438		Approved	Hek8	uc002vmq.3	P54764	OTTHUMG00000133142	ENST00000281821.2:c.1915C>T	2.37:g.222307708G>A	ENSP00000281821:p.Arg639Cys					EPHA4_ENST00000409938.1_Missense_Mutation_p.R639C|EPHA4_ENST00000409854.1_Missense_Mutation_p.R639C|EPHA4_ENST00000392071.4_Missense_Mutation_p.R588C	p.R639C	NM_004438.3	NP_004429.1	P54764	EPHA4_HUMAN		Epithelial(121;5.38e-09)|all cancers(144;2.47e-06)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(261;0.0154)	11	1956	-		Renal(207;0.0183)	639			Protein kinase.		A8K2P1|B2R601|B7Z6Q8|Q2M380	Missense_Mutation	SNP	ENST00000281821.2	37	c.1915C>T	CCDS2447.1	.	.	.	.	.	.	.	.	.	.	G	25.5	4.643035	0.87859	.	.	ENSG00000116106	ENST00000281821;ENST00000409854;ENST00000409938;ENST00000392071	T;T;T;T	0.64085	-0.08;-0.08;-0.08;-0.08	6.06	6.06	0.98353	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.82674	0.5088	M	0.86268	2.805	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.82121	-0.0614	10	0.49607	T	0.09	.	20.6208	0.99490	0.0:0.0:1.0:0.0	.	639	P54764	EPHA4_HUMAN	C	639;639;639;588	ENSP00000281821:R639C;ENSP00000386276:R639C;ENSP00000386829:R639C;ENSP00000375923:R588C	ENSP00000281821:R639C	R	-	1	0	EPHA4	222015952	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.869000	0.99810	2.882000	0.98803	0.655000	0.94253	CGT		0.443	EPHA4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256836.3			4	44	0	0	0	1	0	4	44					A	222307708	G	A	222307708	3	1	435	1	0	0	0	0	1	0	0	0	5169	1087	38	1	1073	1	EPHA4	2	222307708	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	12886	222307708	20891665	1535	22460											
PAX3	5077	broad.mit.edu	37	chr2	223159003	223159003	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccgaatttacttctcaggaTgcggctgatggaactcactg	9	11	10	11	2	2	1	2	1	1	0	3	4	2	3	1	3	3	1	1	3	3	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:223159003T>C	ENST00000350526.4	-	4	605	c.469A>G	c.(469-471)Atc>Gtc	p.I157V	PAX3_ENST00000409828.3_Missense_Mutation_p.I157V|PAX3_ENST00000336840.6_Missense_Mutation_p.I157V|PAX3_ENST00000392070.2_Missense_Mutation_p.I157V|PAX3_ENST00000409551.3_Missense_Mutation_p.I156V|PAX3_ENST00000258387.5_Missense_Mutation_p.I157V|PAX3_ENST00000344493.4_Missense_Mutation_p.I157V|PAX3_ENST00000392069.2_Missense_Mutation_p.I157V	NM_181457.3	NP_852122.1	P23760	PAX3_HUMAN	paired box 3	157	Paired. {ECO:0000255|PROSITE- ProRule:PRU00381}.				apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|developmental pigmentation (GO:0048066)|heart development (GO:0007507)|mammary gland specification (GO:0060594)|muscle organ development (GO:0007517)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural crest cell migration (GO:0001755)|neural tube closure (GO:0001843)|neuron fate commitment (GO:0048663)|organ morphogenesis (GO:0009887)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of somitogenesis (GO:0014807)|sensory perception of sound (GO:0007605)|spinal cord association neuron differentiation (GO:0021527)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)		PAX3/NCOA2(4)|PAX3/NCOA1(8)|PAX3/FOXO1(749)	NS(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(13)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	38		Renal(207;0.0183)		Epithelial(121;4.13e-10)|all cancers(144;1.85e-07)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CTTCTCAGGATGCGGCTGATG	0.597			T	"FOXO1A, NCOA1"	alveolar rhabdomyosarcoma		Waardenburg syndrome; craniofacial-deafness-hand syndrome																															ENST00000350526.4				Dom	yes		2	2q35	5077	T	paired box gene 3	yes	Waardenburg syndrome; craniofacial-deafness-hand syndrome	M	"FOXO1A, NCOA1"		alveolar rhabdomyosarcoma	PAX3/NCOA2(4)|PAX3/NCOA1(8)|PAX3/FOXO1(749)	0				NS(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(13)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	38						c.(469-471)Atc>Gtc		paired box 3							108	82	91					2																	223159003		2203	4300	6503	SO:0001583	missense	5077				apoptosis|organ morphogenesis|positive regulation of transcription from RNA polymerase II promoter|sensory perception of sound|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:223159003T>C		CCDS2449.1, CCDS2450.1, CCDS2451.1, CCDS42825.1, CCDS2448.1, CCDS42826.1, CCDS46522.1, CCDS46523.1	2q36.1	2011-06-20	2007-07-12		ENSG00000135903	ENSG00000135903		"Paired boxes", "Homeoboxes / PRD class"	8617	protein-coding gene	gene with protein product		606597	"Waardenburg syndrome 1", "paired box gene 3 (Waardenburg syndrome 1)"	WS1		1347149	Standard	NM_181461		Approved	HUP2	uc002vmt.2	P23760	OTTHUMG00000133157	ENST00000350526.4:c.469A>G	2.37:g.223159003T>C	ENSP00000343052:p.Ile157Val					PAX3_ENST00000258387.5_Missense_Mutation_p.I157V|PAX3_ENST00000409828.3_Missense_Mutation_p.I157V|PAX3_ENST00000409551.3_Missense_Mutation_p.I156V|PAX3_ENST00000392070.2_Missense_Mutation_p.I157V|PAX3_ENST00000336840.6_Missense_Mutation_p.I157V|PAX3_ENST00000392069.2_Missense_Mutation_p.I157V|PAX3_ENST00000344493.4_Missense_Mutation_p.I157V	p.I157V	NM_181457.3	NP_852122.1	P23760	PAX3_HUMAN		Epithelial(121;4.13e-10)|all cancers(144;1.85e-07)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	4	605	-		Renal(207;0.0183)	157			Paired.		G5E9C1|Q16448|Q494Z3|Q494Z4|Q53T90|Q6GSJ9|Q86UQ2|Q86UQ3	Missense_Mutation	SNP	ENST00000350526.4	37	c.469A>G	CCDS42826.1	.	.	.	.	.	.	.	.	.	.	T	6.710	0.499704	0.12762	.	.	ENSG00000135903	ENST00000392069;ENST00000344493;ENST00000350526;ENST00000392070;ENST00000336840;ENST00000409551;ENST00000409828;ENST00000258387	D;D;D;D;D;D;D;D	0.99376	-5.79;-5.79;-5.79;-5.79;-5.79;-5.79;-5.79;-5.79	5.11	5.11	0.69529	Paired box protein, N-terminal (3);Winged helix-turn-helix transcription repressor DNA-binding (1);Homeodomain-like (1);	0.141423	0.64402	D	0.000006	D	0.97005	0.9022	N	0.25060	0.705	0.52501	D	0.999951	B;B;B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0;0.0;0.0	B;B;B;B;B;B;B	0.17098	0.017;0.001;0.002;0.003;0.001;0.003;0.003	D	0.95982	0.8978	10	0.25106	T	0.35	.	14.5791	0.68274	0.0:0.0:0.0:1.0	.	157;157;157;156;157;157;157	P23760;P23760-2;P23760-3;Q494Z4;P23760-4;P23760-5;G5E9C1	PAX3_HUMAN;.;.;.;.;.;.	V	157;157;157;157;157;156;157;157	ENSP00000375921:I157V;ENSP00000342092:I157V;ENSP00000343052:I157V;ENSP00000375922:I157V;ENSP00000338767:I157V;ENSP00000386750:I156V;ENSP00000386817:I157V;ENSP00000258387:I157V	ENSP00000258387:I157V	I	-	1	0	PAX3	222867247	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	3.526000	0.53509	1.924000	0.55735	0.454000	0.30748	ATC		0.597	PAX3-006	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000328670.1			5	30	0	0	0	1	0	5	30					C	223159003	T	C	223159003	3	2	435	1	0	0	0	0	1	0	0	0	11480	1464	51	4	1205	4	PAX3	2	223159003	Missense_Mutation	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	851295	223159003	20040370	1536	22461											
PAX3	5077	broad.mit.edu	37	chr2	223160315	223160315	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcggatttcccagctgaacAtgcccgggttctctcttttg	5	14	9	13	2	2	1	0	1	2	0	5	2	3	2	2	2	3	2	2	2	1	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:223160315A>G	ENST00000350526.4	-	3	519	c.383T>C	c.(382-384)aTg>aCg	p.M128T	PAX3_ENST00000409828.3_Missense_Mutation_p.M128T|PAX3_ENST00000336840.6_Missense_Mutation_p.M128T|PAX3_ENST00000392070.2_Missense_Mutation_p.M128T|PAX3_ENST00000409551.3_Missense_Mutation_p.M127T|PAX3_ENST00000258387.5_Missense_Mutation_p.M128T|PAX3_ENST00000344493.4_Missense_Mutation_p.M128T|CCDC140_ENST00000295226.1_5'Flank|PAX3_ENST00000392069.2_Missense_Mutation_p.M128T	NM_181457.3	NP_852122.1	P23760	PAX3_HUMAN	paired box 3	128	Paired. {ECO:0000255|PROSITE- ProRule:PRU00381}.				apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|developmental pigmentation (GO:0048066)|heart development (GO:0007507)|mammary gland specification (GO:0060594)|muscle organ development (GO:0007517)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural crest cell migration (GO:0001755)|neural tube closure (GO:0001843)|neuron fate commitment (GO:0048663)|organ morphogenesis (GO:0009887)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of somitogenesis (GO:0014807)|sensory perception of sound (GO:0007605)|spinal cord association neuron differentiation (GO:0021527)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)		PAX3/NCOA2(4)|PAX3/NCOA1(8)|PAX3/FOXO1(749)	NS(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(13)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	38		Renal(207;0.0183)		Epithelial(121;4.13e-10)|all cancers(144;1.85e-07)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CCAGCTGAACATGCCCGGGTT	0.542			T	"FOXO1A, NCOA1"	alveolar rhabdomyosarcoma		Waardenburg syndrome; craniofacial-deafness-hand syndrome																															ENST00000350526.4				Dom	yes		2	2q35	5077	T	paired box gene 3	yes	Waardenburg syndrome; craniofacial-deafness-hand syndrome	M	"FOXO1A, NCOA1"		alveolar rhabdomyosarcoma	PAX3/NCOA2(4)|PAX3/NCOA1(8)|PAX3/FOXO1(749)	0				NS(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(13)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	38						c.(382-384)aTg>aCg		paired box 3							141	131	134					2																	223160315		2203	4300	6503	SO:0001583	missense	5077				apoptosis|organ morphogenesis|positive regulation of transcription from RNA polymerase II promoter|sensory perception of sound|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:223160315A>G		CCDS2449.1, CCDS2450.1, CCDS2451.1, CCDS42825.1, CCDS2448.1, CCDS42826.1, CCDS46522.1, CCDS46523.1	2q36.1	2011-06-20	2007-07-12		ENSG00000135903	ENSG00000135903		"Paired boxes", "Homeoboxes / PRD class"	8617	protein-coding gene	gene with protein product		606597	"Waardenburg syndrome 1", "paired box gene 3 (Waardenburg syndrome 1)"	WS1		1347149	Standard	NM_181461		Approved	HUP2	uc002vmt.2	P23760	OTTHUMG00000133157	ENST00000350526.4:c.383T>C	2.37:g.223160315A>G	ENSP00000343052:p.Met128Thr					PAX3_ENST00000258387.5_Missense_Mutation_p.M128T|PAX3_ENST00000409828.3_Missense_Mutation_p.M128T|PAX3_ENST00000409551.3_Missense_Mutation_p.M127T|PAX3_ENST00000392070.2_Missense_Mutation_p.M128T|PAX3_ENST00000336840.6_Missense_Mutation_p.M128T|PAX3_ENST00000392069.2_Missense_Mutation_p.M128T|PAX3_ENST00000344493.4_Missense_Mutation_p.M128T	p.M128T	NM_181457.3	NP_852122.1	P23760	PAX3_HUMAN		Epithelial(121;4.13e-10)|all cancers(144;1.85e-07)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	3	519	-		Renal(207;0.0183)	128			Paired.		G5E9C1|Q16448|Q494Z3|Q494Z4|Q53T90|Q6GSJ9|Q86UQ2|Q86UQ3	Missense_Mutation	SNP	ENST00000350526.4	37	c.383T>C	CCDS42826.1	.	.	.	.	.	.	.	.	.	.	A	17.48	3.399507	0.62177	.	.	ENSG00000135903	ENST00000392069;ENST00000344493;ENST00000350526;ENST00000392070;ENST00000336840;ENST00000409551;ENST00000409828;ENST00000258387	D;D;D;D;D;D;D;D	0.99394	-5.82;-5.82;-5.82;-5.82;-5.82;-5.82;-5.82;-5.82	5.71	5.71	0.89125	Paired box protein, N-terminal (3);Winged helix-turn-helix transcription repressor DNA-binding (1);Homeodomain-like (1);	0.067905	0.85682	D	0.000000	D	0.98871	0.9618	M	0.83223	2.63	0.80722	D	1	P;B;P;B;B;P;B	0.39480	0.675;0.319;0.572;0.041;0.226;0.526;0.058	B;B;B;B;B;B;B	0.42771	0.338;0.223;0.236;0.074;0.092;0.397;0.044	D	0.99851	1.1071	10	0.87932	D	0	.	15.6639	0.77209	1.0:0.0:0.0:0.0	.	128;128;128;127;128;128;128	P23760;P23760-2;P23760-3;Q494Z4;P23760-4;P23760-5;G5E9C1	PAX3_HUMAN;.;.;.;.;.;.	T	128;128;128;128;128;127;128;128	ENSP00000375921:M128T;ENSP00000342092:M128T;ENSP00000343052:M128T;ENSP00000375922:M128T;ENSP00000338767:M128T;ENSP00000386750:M127T;ENSP00000386817:M128T;ENSP00000258387:M128T	ENSP00000258387:M128T	M	-	2	0	PAX3	222868559	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.339000	0.96797	2.176000	0.68965	0.533000	0.62120	ATG		0.542	PAX3-006	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000328670.1			3	59	0	0	0	1	0	3	59					G	223160315	A	G	223160315	3	3	435	1	0	0	0	0	1	0	0	0	11480	217	8	4	1295	4	PAX3	2	223160315	Missense_Mutation	SNP	A	TCGA-XK-AAIW-01A-11D-A41K-08	1312	223160315	20039058	1537	22462											
CCDC140	151278	broad.mit.edu	37	chr2	223168793	223168793	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agccaactaaacggagtaaaCgcaacaggtggaggaggcag	16	3	14	8	2	0	0	0	0	0	0	0	3	0	3	1	5	5	3	1	5	6	2	rs545278450		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:223168793C>T	ENST00000295226.1	+	2	556	c.172C>T	c.(172-174)Cgc>Tgc	p.R58C		NM_153038.1	NP_694583.1	Q96MF4	CC140_HUMAN	coiled-coil domain containing 140	58										endometrium(4)|large_intestine(1)|prostate(1)	6		Renal(207;0.0376)		Epithelial(121;4.03e-10)|all cancers(144;1.8e-07)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		ACGGAGTAAACGCAACAGGTG	0.592													C|||	1	0.000199681	0	0	5008	,	,		15395	0		0	False		,,,				2504	0.001					ENST00000295226.1																			0				endometrium(4)|large_intestine(1)|prostate(1)	6						c.(172-174)Cgc>Tgc		coiled-coil domain containing 140							56	57	57					2																	223168793		2203	4300	6503	SO:0001583	missense	151278							g.chr2:223168793C>T	AK057009	CCDS2452.1	2q36.1	2008-02-05			ENSG00000163081	ENSG00000163081			26514	protein-coding gene	gene with protein product							Standard	NM_153038		Approved	FLJ32447	uc002vnb.1	Q96MF4	OTTHUMG00000133154	ENST00000295226.1:c.172C>T	2.37:g.223168793C>T	ENSP00000295226:p.Arg58Cys						p.R58C	NM_153038.1	NP_694583.1	Q96MF4	CC140_HUMAN		Epithelial(121;4.03e-10)|all cancers(144;1.8e-07)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	2	556	+		Renal(207;0.0376)	58						Missense_Mutation	SNP	ENST00000295226.1	37	c.172C>T	CCDS2452.1	.	.	.	.	.	.	.	.	.	.	C	11.04	1.522669	0.27211	.	.	ENSG00000163081	ENST00000295226	.	.	.	3.23	-3.32	0.04973	.	.	.	.	.	T	0.10252	0.0251	N	0.08118	0	0.09310	N	1	B	0.32051	0.354	B	0.16722	0.016	T	0.15009	-1.0452	8	0.87932	D	0	.	0.8309	0.01130	0.1532:0.2275:0.3021:0.3172	.	58	Q96MF4	CC140_HUMAN	C	58	.	ENSP00000295226:R58C	R	+	1	0	CCDC140	222877037	0.000000	0.05858	0.001000	0.08648	0.002000	0.02628	-1.210000	0.02999	-0.897000	0.03910	-0.175000	0.13238	CGC		0.592	CCDC140-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256854.1	NM_153038		7	9	0	0	0	1	0	7	9					T	223168793	C	T	223168793	3	4	435	1	0	0	0	0	1	0	0	0	2774	536	19	1	174	1	CCDC140	2	223168793	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	8478	223168793	20030580	1538	22463											
SCG2	7857	broad.mit.edu	37	chr2	224463599	224463599	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttttctgaattcaaggcataGggcttattttcttttggtgc	7	19	9	6	0	3	1	1	1	2	0	3	1	3	1	0	3	1	2	0	3	4	9			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:224463599G>T	ENST00000305409.2	-	2	634	c.402C>A	c.(400-402)ccC>ccA	p.P134P		NM_003469.4	NP_003460.2	O00255	MEN1_HUMAN	secretogranin II	0					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|chromatin remodeling (GO:0006338)|DNA repair (GO:0006281)|embryonic skeletal system morphogenesis (GO:0048704)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|histone lysine methylation (GO:0034968)|leukocyte homeostasis (GO:0001776)|MAPK cascade (GO:0000165)|maternal process involved in female pregnancy (GO:0060135)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of JNK cascade (GO:0046329)|negative regulation of organ growth (GO:0046621)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of telomerase activity (GO:0051974)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|osteoblast development (GO:0002076)|osteoblast fate commitment (GO:0002051)|palate development (GO:0060021)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell division (GO:0051781)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of histone methylation (GO:0031062)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein binding (GO:0032092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of activin receptor signaling pathway (GO:0032925)|response to gamma radiation (GO:0010332)|response to UV (GO:0009411)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	chromatin (GO:0000785)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|histone methyltransferase complex (GO:0035097)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|four-way junction DNA binding (GO:0000400)|protein binding, bridging (GO:0030674)|protein N-terminus binding (GO:0047485)|R-SMAD binding (GO:0070412)|sequence-specific DNA binding (GO:0043565)|transcription regulatory region DNA binding (GO:0044212)|Y-form DNA binding (GO:0000403)			NS(1)|breast(1)|endometrium(1)|kidney(6)|large_intestine(10)|liver(1)|lung(16)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	44		Renal(207;0.0112)|Lung NSC(271;0.0185)|all_lung(227;0.0271)		Epithelial(121;8.16e-11)|all cancers(144;4.66e-08)|Lung(261;0.00714)|LUSC - Lung squamous cell carcinoma(224;0.008)		TCAAGGCATAGGGCTTATTTT	0.423																																						ENST00000305409.2																			0				NS(1)|breast(1)|endometrium(1)|kidney(6)|large_intestine(10)|liver(1)|lung(16)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	44						c.(400-402)ccC>ccA		secretogranin II							171	170	170					2																	224463599		2203	4300	6503	SO:0001819	synonymous_variant	7857				angiogenesis|endothelial cell migration|eosinophil chemotaxis|induction of positive chemotaxis|inflammatory response|MAPKKK cascade|negative regulation of apoptosis|negative regulation of endothelial cell proliferation|positive regulation of endothelial cell proliferation|protein secretion	extracellular space|stored secretory granule	chemoattractant activity|cytokine activity	g.chr2:224463599G>T	M25756	CCDS2457.1	2q35-q36	2010-04-27	2010-04-27		ENSG00000171951	ENSG00000171951			10575	protein-coding gene	gene with protein product	"secretoneurin", "chromogranin C"	118930				8617499, 16101435	Standard	NM_003469		Approved	CHGC, SgII, SN	uc002vnm.3	P13521	OTTHUMG00000133166	ENST00000305409.2:c.402C>A	2.37:g.224463599G>T							p.P134P	NM_003469.4	NP_003460.2	P13521	SCG2_HUMAN		Epithelial(121;8.16e-11)|all cancers(144;4.66e-08)|Lung(261;0.00714)|LUSC - Lung squamous cell carcinoma(224;0.008)	2	634	-		Renal(207;0.0112)|Lung NSC(271;0.0185)|all_lung(227;0.0271)	134					A5HBC6|A5HBC7|A5HBC8|A5HBC9|A5HBD0|A5HBD1|A5HBD2|O00632|Q9BUF0|Q9BUK2	Silent	SNP	ENST00000305409.2	37	c.402C>A	CCDS2457.1																																																																																				0.423	SCG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256870.2	NM_003469		6	151	1	0	0.0293803	1	0.0295506	6	151					T	224463599	G	T	224463599	2	4	435	1	0	0	0	0	0	0	0	1	13891	987	35	5		5	SCG2	2	224463599	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	1294806	224463599	18735774	1539	22464											
WDFY1	57590	broad.mit.edu	37	chr2	224746674	224746674	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ctcactcttcatctttgatgGagtcgtaacaagaatcacaa	13	12	6	10	1	5	2	3	1	2	1	6	3	5	3	0	1	1	1	0	1	4	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:224746674G>A	ENST00000233055.4	-	10	1151	c.1049C>T	c.(1048-1050)tCc>tTc	p.S350F		NM_020830.3	NP_065881.1	Q8IWB7	WDFY1_HUMAN	WD repeat and FYVE domain containing 1	350						cytosol (GO:0005829)|early endosome (GO:0005769)|nucleus (GO:0005634)	1-phosphatidylinositol binding (GO:0005545)|zinc ion binding (GO:0008270)			NS(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(6)|prostate(2)	18		all_lung(227;0.00682)|Lung NSC(271;0.00859)|Renal(207;0.0112)|all_hematologic(139;0.189)		Epithelial(121;5.34e-10)|all cancers(144;1.67e-07)|Lung(261;0.00807)|LUSC - Lung squamous cell carcinoma(224;0.00843)		ATCTTTGATGGAGTCGTAACA	0.463																																						ENST00000233055.4																			0				NS(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(6)|prostate(2)	18						c.(1048-1050)tCc>tTc		WD repeat and FYVE domain containing 1							203	211	208					2																	224746674		2203	4300	6503	SO:0001583	missense	57590					cytosol|early endosome|nucleus	1-phosphatidylinositol binding|zinc ion binding	g.chr2:224746674G>A	AB037856	CCDS33387.1	2q36.2	2013-01-09	2003-03-13		ENSG00000085449	ENSG00000085449		"Zinc fingers, FYVE domain containing", "WD repeat domain containing"	20451	protein-coding gene	gene with protein product			"WD40 and FYVE domain containing 1"			11739631	Standard	NM_020830		Approved	KIAA1435, FENS-1, WDF1, ZFYVE17	uc002vnq.3	Q8IWB7	OTTHUMG00000153370	ENST00000233055.4:c.1049C>T	2.37:g.224746674G>A	ENSP00000233055:p.Ser350Phe						p.S350F	NM_020830.3	NP_065881.1	Q8IWB7	WDFY1_HUMAN		Epithelial(121;5.34e-10)|all cancers(144;1.67e-07)|Lung(261;0.00807)|LUSC - Lung squamous cell carcinoma(224;0.00843)	10	1151	-		all_lung(227;0.00682)|Lung NSC(271;0.00859)|Renal(207;0.0112)|all_hematologic(139;0.189)	350					Q53S17|Q9H9D5|Q9P2B3	Missense_Mutation	SNP	ENST00000233055.4	37	c.1049C>T	CCDS33387.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.081972	0.76528	.	.	ENSG00000085449	ENST00000233055	T	0.72942	-0.7	5.83	5.83	0.93111	Zinc finger, RING/FYVE/PHD-type (1);WD40 repeat-like-containing domain (1);Zinc finger, FYVE-type (2);Zinc finger, FYVE-related (1);Zinc finger, FYVE/PHD-type (1);	0.104802	0.64402	D	0.000002	T	0.67487	0.2898	L	0.37630	1.12	0.52099	D	0.999943	P	0.41393	0.748	B	0.41236	0.351	T	0.69483	-0.5133	10	0.56958	D	0.05	-22.51	20.1337	0.98010	0.0:0.0:1.0:0.0	.	350	Q8IWB7	WDFY1_HUMAN	F	350	ENSP00000233055:S350F	ENSP00000233055:S350F	S	-	2	0	WDFY1	224454918	1.000000	0.71417	1.000000	0.80357	0.755000	0.42902	6.301000	0.72782	2.753000	0.94483	0.650000	0.86243	TCC		0.463	WDFY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330908.1	NM_020830		34	142	0	0	0	1	0	34	142					A	224746674	G	A	224746674	3	1	435	1	0	0	0	0	1	0	0	0	17265	1174	41	3	195	3	WDFY1	2	224746674	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	283075	224746674	18452699	1540	22465											
MRPL44	65080	broad.mit.edu	37	chr2	224828620	224828620	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggcagtctggtggcaccacaGctttgcctttgtattttgtt	5	16	11	9	0	1	0	0	0	1	0	1	0	1	0	2	3	2	5	2	3	1	6			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:224828620G>T	ENST00000258383.3	+	3	865	c.796G>T	c.(796-798)Gct>Tct	p.A266S	AC073641.2_ENST00000425192.1_RNA	NM_022915.3	NP_075066.1	Q9H9J2	RM44_HUMAN	mitochondrial ribosomal protein L44	266	DRBM. {ECO:0000255|PROSITE- ProRule:PRU00266}.				mitochondrial translational elongation (GO:0070125)|RNA processing (GO:0006396)	mitochondrion (GO:0005739)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|ribonuclease III activity (GO:0004525)			breast(1)|central_nervous_system(1)|large_intestine(5)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	13		all_lung(227;0.00679)|Lung NSC(271;0.00855)|Renal(207;0.0112)|all_hematologic(139;0.189)		Epithelial(121;2.51e-10)|all cancers(144;7.89e-08)|Lung(261;0.00705)|LUSC - Lung squamous cell carcinoma(224;0.008)		TGGCACCACAGCTTTGCCTTT	0.378																																						ENST00000258383.3																			0				breast(1)|central_nervous_system(1)|large_intestine(5)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	13						c.(796-798)Gct>Tct		mitochondrial ribosomal protein L44							105	104	105					2																	224828620		2203	4300	6503	SO:0001583	missense	65080				RNA processing	mitochondrion|ribosome	double-stranded RNA binding|protein binding|ribonuclease III activity	g.chr2:224828620G>T	AK022763	CCDS2459.1	2p24.3-p24.1	2012-09-13			ENSG00000135900	ENSG00000135900		"Mitochondrial ribosomal proteins / large subunits"	16650	protein-coding gene	gene with protein product	"39S ribosomal protein L44, mitochondrial"	611849					Standard	NM_022915		Approved	FLJ12701, FLJ13990	uc002vnr.4	Q9H9J2	OTTHUMG00000133164	ENST00000258383.3:c.796G>T	2.37:g.224828620G>T	ENSP00000258383:p.Ala266Ser						p.A266S	NM_022915.3	NP_075066.1	Q9H9J2	RM44_HUMAN		Epithelial(121;2.51e-10)|all cancers(144;7.89e-08)|Lung(261;0.00705)|LUSC - Lung squamous cell carcinoma(224;0.008)	3	865	+		all_lung(227;0.00679)|Lung NSC(271;0.00855)|Renal(207;0.0112)|all_hematologic(139;0.189)	266			DRBM.		Q53S16|Q6IA62|Q9H821	Missense_Mutation	SNP	ENST00000258383.3	37	c.796G>T	CCDS2459.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.365951	0.82463	.	.	ENSG00000135900	ENST00000258383	T	0.45276	0.9	5.7	4.81	0.61882	Double-stranded RNA-binding (1);Double-stranded RNA-binding-like (1);	0.111095	0.64402	D	0.000011	T	0.27765	0.0683	L	0.27053	0.805	0.36408	D	0.863525	P	0.47106	0.89	B	0.41764	0.366	T	0.11991	-1.0565	10	0.07325	T	0.83	-13.5713	12.9506	0.58399	0.081:0.0:0.919:0.0	.	266	Q9H9J2	RM44_HUMAN	S	266	ENSP00000258383:A266S	ENSP00000258383:A266S	A	+	1	0	MRPL44	224536864	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.174000	0.94824	2.680000	0.91292	0.591000	0.81541	GCT		0.378	MRPL44-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256866.2	NM_022915		19	32	1	0	5.26018e-13	1	5.704e-13	19	32					T	224828620	G	T	224828620	3	4	435	1	0	0	0	0	1	0	0	0	9808	971	34	5	806	5	MRPL44	2	224828620	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	81946	224828620	18370753	1541	22466											
SERPINE2	5270	broad.mit.edu	37	chr2	224866369	224866369	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcacacgcaccatttacgccGtatctcatcaccatggcgag	10	8	8	15	4	2	0	2	0	1	0	3	1	2	0	3	1	1	3	3	1	2	3	rs567117261		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:224866369G>A	ENST00000258405.4	-	2	491	c.249C>T	c.(247-249)taC>taT	p.Y83Y	SERPINE2_ENST00000447280.2_Silent_p.Y95Y|SERPINE2_ENST00000409840.3_Silent_p.Y83Y|SERPINE2_ENST00000409304.1_Silent_p.Y83Y	NM_001136528.1|NM_006216.3	NP_001130000.1|NP_006207.1	P07093	GDN_HUMAN	serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 2	83					blood coagulation (GO:0007596)|cerebellar granular layer morphogenesis (GO:0021683)|detection of mechanical stimulus involved in sensory perception (GO:0050974)|innervation (GO:0060384)|long-term synaptic potentiation (GO:0060291)|mating plug formation (GO:0042628)|negative regulation of blood coagulation (GO:0030195)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of plasminogen activation (GO:0010757)|negative regulation of platelet activation (GO:0010544)|negative regulation of platelet aggregation (GO:0090331)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of protein processing (GO:0010955)|negative regulation of proteolysis (GO:0045861)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of sodium ion transport (GO:0010766)|positive regulation of astrocyte differentiation (GO:0048711)|regulation of cell migration (GO:0030334)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of timing of cell differentiation (GO:0048505)|secretion by cell (GO:0032940)|secretory granule organization (GO:0033363)|seminal vesicle epithelium development (GO:0061108)	cytosol (GO:0005829)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extrinsic component of external side of plasma membrane (GO:0031232)|neuromuscular junction (GO:0031594)|platelet alpha granule (GO:0031091)|vesicle (GO:0031982)	glycosaminoglycan binding (GO:0005539)|heparin binding (GO:0008201)|receptor binding (GO:0005102)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(2)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)	17		Renal(207;0.025)|all_lung(227;0.0586)|Lung NSC(271;0.0682)|all_hematologic(139;0.0797)		Epithelial(121;5.68e-10)|all cancers(144;1.9e-07)|Lung(261;0.0088)|LUSC - Lung squamous cell carcinoma(224;0.00902)		CATTTACGCCGTATCTCATCA	0.567													G|||	1	0.000199681	0	0.0014	5008	,	,		18199	0		0	False		,,,				2504	0					ENST00000409840.3																			0				breast(2)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)	17						c.(247-249)taC>taT		serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 2							70	62	65					2																	224866369		2203	4300	6503	SO:0001819	synonymous_variant	5270				negative regulation of blood coagulation|negative regulation of plasminogen activation|negative regulation of platelet aggregation|positive regulation of astrocyte differentiation|regulation of cell migration	cytosol|extracellular matrix|extracellular space|extrinsic to external side of plasma membrane|neuromuscular junction|platelet alpha granule	heparin binding|receptor binding|serine-type endopeptidase inhibitor activity	g.chr2:224866369G>A	M17783	CCDS2460.1, CCDS46525.1, CCDS46526.1	2q36.1	2014-02-18	2005-08-18		ENSG00000135919	ENSG00000135919		"Serine (or cysteine) peptidase inhibitors"	8951	protein-coding gene	gene with protein product	"glial-derived nexin 1"	177010	"serine (or cysteine) proteinase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 2"	PI7		7665170, 24172014	Standard	NM_006216		Approved	PN1, GDN, PNI, nexin	uc002vnu.2	P07093	OTTHUMG00000133163	ENST00000258405.4:c.249C>T	2.37:g.224866369G>A						SERPINE2_ENST00000258405.4_Silent_p.Y83Y|SERPINE2_ENST00000409304.1_Silent_p.Y83Y|SERPINE2_ENST00000447280.2_Silent_p.Y95Y	p.Y83Y			P07093	GDN_HUMAN		Epithelial(121;5.68e-10)|all cancers(144;1.9e-07)|Lung(261;0.0088)|LUSC - Lung squamous cell carcinoma(224;0.00902)	3	909	-		Renal(207;0.025)|all_lung(227;0.0586)|Lung NSC(271;0.0682)|all_hematologic(139;0.0797)	83					B2R6A4|B4DIF2|Q53S15|Q5D0C4	Silent	SNP	ENST00000258405.4	37	c.249C>T	CCDS2460.1																																																																																				0.567	SERPINE2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256865.2	NM_006216		15	24	0	0	0	1	0	15	24					A	224866369	G	A	224866369	2	1	435	1	0	0	0	0	0	0	0	1	14112	1140	40	1		1	SERPINE2	2	224866369	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	37749	224866369	18333004	1542	22467											
FAM124B	79843	broad.mit.edu	37	chr2	225266032	225266032	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catctcgtagagtctgatggCgtcttcatagttatcaaaac	11	13	8	9	2	5	2	2	1	3	1	6	2	5	2	0	1	1	2	0	1	5	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:225266032C>T	ENST00000409685.3	-	1	719	c.454G>A	c.(454-456)Gcc>Acc	p.A152T	FAM124B_ENST00000389874.3_Missense_Mutation_p.A152T|FAM124B_ENST00000243806.2_Missense_Mutation_p.A152T	NM_001122779.1	NP_001116251.1	Q9H5Z6	F124B_HUMAN	family with sequence similarity 124B	152								p.A152T(2)		endometrium(2)|large_intestine(2)|lung(7)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	16		Renal(207;0.0112)|all_lung(227;0.0126)|Lung NSC(271;0.0161)|all_hematologic(139;0.138)		Epithelial(121;4.4e-10)|all cancers(144;2.02e-07)|Lung(261;0.00766)|LUSC - Lung squamous cell carcinoma(224;0.00825)		AGTCTGATGGCGTCTTCATAG	0.522																																						ENST00000389874.3																			2	Substitution - Missense(2)	p.A152T(2)	large_intestine(2)	endometrium(2)|large_intestine(2)|lung(7)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	16						c.(454-456)Gcc>Acc		family with sequence similarity 124B							89	84	86					2																	225266032		2203	4300	6503	SO:0001583	missense	79843						protein binding	g.chr2:225266032C>T	AK075126	CCDS2461.1, CCDS46527.1	2q36.2	2008-02-05			ENSG00000124019	ENSG00000124019			26224	protein-coding gene	gene with protein product						12477932	Standard	NM_001122779		Approved	FLJ22746	uc002vnx.3	Q9H5Z6	OTTHUMG00000133168	ENST00000409685.3:c.454G>A	2.37:g.225266032C>T	ENSP00000386895:p.Ala152Thr					FAM124B_ENST00000409685.3_Missense_Mutation_p.A152T|FAM124B_ENST00000243806.2_Missense_Mutation_p.A152T	p.A152T	NM_024785.2	NP_079061.2	Q9H5Z6	F124B_HUMAN		Epithelial(121;4.4e-10)|all cancers(144;2.02e-07)|Lung(261;0.00766)|LUSC - Lung squamous cell carcinoma(224;0.00825)	1	679	-		Renal(207;0.0112)|all_lung(227;0.0126)|Lung NSC(271;0.0161)|all_hematologic(139;0.138)	152					A6NNC7|Q8NBZ4|Q8TAV7	Missense_Mutation	SNP	ENST00000409685.3	37	c.454G>A	CCDS46527.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.972974	0.74246	.	.	ENSG00000124019	ENST00000389874;ENST00000409685;ENST00000243806	T;T;T	0.44083	0.93;0.93;0.93	5.64	4.76	0.60689	.	0.101330	0.64402	D	0.000002	T	0.53286	0.1787	M	0.65320	2	0.43734	D	0.996226	D;D	0.76494	0.999;0.997	P;P	0.61201	0.885;0.818	T	0.55431	-0.8142	10	0.02654	T	1	-20.6537	15.9002	0.79369	0.1365:0.8635:0.0:0.0	.	152;152	Q9H5Z6;Q9H5Z6-2	F124B_HUMAN;.	T	152	ENSP00000374524:A152T;ENSP00000386895:A152T;ENSP00000243806:A152T	ENSP00000243806:A152T	A	-	1	0	FAM124B	224974276	1.000000	0.71417	0.885000	0.34714	0.708000	0.40852	4.429000	0.59901	1.361000	0.45981	0.655000	0.94253	GCC		0.522	FAM124B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330873.1	NM_024785		17	43	0	0	0	1	0	17	43					T	225266032	C	T	225266032	3	4	435	1	0	0	0	0	1	0	0	0	5426	768	27	1	1012	1	FAM124B	2	225266032	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	399663	225266032	17933341	1543	22468											
DOCK10	55619	broad.mit.edu	37	chr2	225796266	225796266	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgagaagagaagacttacTgaaaagtcatcactggggaa	16	8	11	6	0	2	4	2	2	0	3	2	7	2	5	0	2	1	0	0	2	6	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:225796266T>C	ENST00000258390.7	-	2	310	c.243A>G	c.(241-243)tcA>tcG	p.S81S	DOCK10_ENST00000474102.1_5'UTR|DOCK10_ENST00000409592.3_Splice_Site_p.S75S	NM_014689.2	NP_055504.2	Q96BY6	DOC10_HUMAN	dedicator of cytokinesis 10	81					regulation of cell migration (GO:0030334)|small GTPase mediated signal transduction (GO:0007264)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	87		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)		GAAGACTTACTGAAAAGTCAT	0.458																																						ENST00000409592.3																			0				NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	87						c.e2+1		dedicator of cytokinesis 10							74	74	74					2																	225796266		1867	4110	5977	SO:0001630	splice_region_variant	55619						GTP binding	g.chr2:225796266T>C	AB014594	CCDS46528.1, CCDS74661.1	2q36.3	2013-01-10			ENSG00000135905	ENSG00000135905		"Pleckstrin homology (PH) domain containing"	23479	protein-coding gene	gene with protein product	"zizimin3"	611518				12432077	Standard	NM_014689		Approved	ZIZ3, KIAA0694	uc010fwz.1	Q96BY6	OTTHUMG00000153428	ENST00000258390.7:c.243+1A>G	2.37:g.225796266T>C						DOCK10_ENST00000258390.7_Splice_Site_p.S81_splice|DOCK10_ENST00000474102.1_5'UTR	p.S75_splice			Q96BY6	DOC10_HUMAN		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)	2	338	-		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)	81					B3FL70|O75178|Q9NW06|Q9NXI8	Splice_Site	SNP	ENST00000258390.7	37	c.225_splice	CCDS46528.1																																																																																				0.458	DOCK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331246.1		Silent	9	11	0	0	0	1	0	9	11					C	225796266	T	C	225796266	5	2	435	1	0	0	0	0	0	0	1	0	4685	1594	55	4	6537	4	DOCK10	2	225796266	Splice_Site	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	530234	225796266	17403107	1544	22469											
DOCK10	55619	broad.mit.edu	37	chr2	225796306	225796306	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agaacaagagatcttgaagaGgatcattccggtaggtcttt	13	11	11	6	1	3	4	1	1	2	3	4	6	4	5	1	3	1	1	1	3	4	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:225796306G>T	ENST00000258390.7	-	2	270	c.203C>A	c.(202-204)cCt>cAt	p.P68H	DOCK10_ENST00000474102.1_5'UTR|DOCK10_ENST00000409592.3_Missense_Mutation_p.P62H	NM_014689.2	NP_055504.2	Q96BY6	DOC10_HUMAN	dedicator of cytokinesis 10	68					regulation of cell migration (GO:0030334)|small GTPase mediated signal transduction (GO:0007264)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	87		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)		ATCTTGAAGAGGATCATTCCG	0.418																																						ENST00000409592.3																			0				NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	87						c.(184-186)cCt>cAt		dedicator of cytokinesis 10							100	100	100					2																	225796306		1863	4107	5970	SO:0001583	missense	55619						GTP binding	g.chr2:225796306G>T	AB014594	CCDS46528.1, CCDS74661.1	2q36.3	2013-01-10			ENSG00000135905	ENSG00000135905		"Pleckstrin homology (PH) domain containing"	23479	protein-coding gene	gene with protein product	"zizimin3"	611518				12432077	Standard	NM_014689		Approved	ZIZ3, KIAA0694	uc010fwz.1	Q96BY6	OTTHUMG00000153428	ENST00000258390.7:c.203C>A	2.37:g.225796306G>T	ENSP00000258390:p.Pro68His					DOCK10_ENST00000258390.7_Missense_Mutation_p.P68H|DOCK10_ENST00000474102.1_5'UTR	p.P62H			Q96BY6	DOC10_HUMAN		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)	2	298	-		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)	68					B3FL70|O75178|Q9NW06|Q9NXI8	Missense_Mutation	SNP	ENST00000258390.7	37	c.185C>A	CCDS46528.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.287828	0.80803	.	.	ENSG00000135905	ENST00000409592;ENST00000258390	T;T	0.50001	0.76;0.76	5.59	5.59	0.84812	.	0.104184	0.64402	D	0.000003	T	0.66954	0.2842	M	0.78049	2.395	0.29801	N	0.832471	P;D;D	0.69078	0.942;0.997;0.973	P;D;P	0.64144	0.757;0.922;0.815	T	0.68277	-0.5451	10	0.72032	D	0.01	.	14.2002	0.65699	0.0738:0.0:0.9262:0.0	.	68;68;62	Q96BY6;Q96BY6-2;B3FL70	DOC10_HUMAN;.;.	H	62;68	ENSP00000386694:P62H;ENSP00000258390:P68H	ENSP00000258390:P68H	P	-	2	0	DOCK10	225504550	1.000000	0.71417	0.954000	0.39281	0.992000	0.81027	3.460000	0.53028	2.797000	0.96272	0.563000	0.77884	CCT		0.418	DOCK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331246.1			6	18	1	0	3.59834e-05	1	3.7043e-05	6	18					T	225796306	G	T	225796306	3	4	435	1	0	0	0	0	1	0	0	0	4685	1000	35	5	6577	5	DOCK10	2	225796306	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	40	225796306	17403067	1545	22470											
KIAA1486	57624	broad.mit.edu	37	chr2	226446657	226446657	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tacgttttttcttcttttagCgtcagctaaaccaagacccc	9	15	5	12	2	3	1	1	0	2	1	3	1	3	1	3	0	4	2	3	0	5	8			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:226446657C>T	ENST00000272907.6	+	4	937	c.524C>T	c.(523-525)gCg>gTg	p.A175V	NYAP2_ENST00000409269.2_Intron	NM_020864.1	NP_065915.1	Q9P242	NYAP2_HUMAN	neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2	175					neuron projection morphogenesis (GO:0048812)|phosphatidylinositol 3-kinase signaling (GO:0014065)												CTTCTTTTAGCGTCAGCTAAA	0.403																																						ENST00000272907.6																			0											c.e4-1		neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2							81	83	82					2																	226446657		1850	4077	5927	SO:0001630	splice_region_variant	57624							g.chr2:226446657C>T	AB040919	CCDS46529.1	2q36.3	2011-11-30	2011-11-30	2011-11-30	ENSG00000144460	ENSG00000144460			29291	protein-coding gene	gene with protein product		615478	"KIAA1486"	KIAA1486		10819331, 21946561	Standard	NM_020864		Approved		uc002voe.2	Q9P242	OTTHUMG00000153450	ENST00000272907.6:c.524-1C>T	2.37:g.226446657C>T						NYAP2_ENST00000409269.2_Intron	p.A175_splice	NM_020864.1	NP_065915.1	Q9P242	K1486_HUMAN			4	937	+			175					A2RRN4|Q96NL2	Splice_Site	SNP	ENST00000272907.6	37	c.523_splice	CCDS46529.1	.	.	.	.	.	.	.	.	.	.	T	0.089	-1.169895	0.01660	.	.	ENSG00000144460	ENST00000272907	T	0.29655	1.56	5.8	3.27	0.37495	.	0.559885	0.16456	N	0.213626	T	0.11367	0.0277	N	0.02368	-0.58	0.54753	D	0.999987	B	0.02656	0.0	B	0.01281	0.0	T	0.11131	-1.0600	9	.	.	.	.	8.6541	0.34053	0.0:0.1287:0.1168:0.7545	.	175	Q9P242	K1486_HUMAN	V	175	ENSP00000272907:A175V	.	A	+	2	0	KIAA1486	226154901	0.980000	0.34600	0.196000	0.23383	0.060000	0.15804	0.696000	0.25541	0.462000	0.27095	-0.275000	0.10095	GCG		0.403	NYAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331258.1	NM_020864	Missense_Mutation	33	53	0	0	0	1	0	33	53					T	226446657	C	T	226446657	5	4	435	1	0	0	0	0	0	0	1	0	8237	782	27	1	534	1	KIAA1486	2	226446657	Splice_Site	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	650351	226446657	16752716	1546	22471											
IRS1	3667	broad.mit.edu	37	chr2	227662817	227662817	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agttttccgagtggccacagCgcctgatgttcatcagctgc	7	11	11	12	2	2	1	2	1	0	0	3	2	3	1	3	1	3	3	3	1	0	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:227662817C>T	ENST00000305123.5	-	1	1658	c.638G>A	c.(637-639)cGc>cAc	p.R213H	RP11-395N3.2_ENST00000607970.1_lincRNA|IRS1_ENST00000498335.1_5'Flank	NM_005544.2	NP_005535.1	P35568	IRS1_HUMAN	insulin receptor substrate 1	213	IRS-type PTB. {ECO:0000255|PROSITE- ProRule:PRU00389}.				cellular response to insulin stimulus (GO:0032869)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose homeostasis (GO:0042593)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lipid catabolic process (GO:0016042)|mammary gland development (GO:0030879)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of insulin secretion (GO:0046676)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fatty acid beta-oxidation (GO:0032000)|positive regulation of glucose import (GO:0046326)|positive regulation of glucose import in response to insulin stimulus (GO:2001275)|positive regulation of glucose metabolic process (GO:0010907)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of insulin receptor signaling pathway (GO:0046628)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|protein kinase B signaling (GO:0043491)|protein localization to nucleus (GO:0034504)|regulation of gene expression (GO:0010468)|response to insulin (GO:0032868)|response to peptide hormone (GO:0043434)|signal transduction (GO:0007165)	caveola (GO:0005901)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|insulin receptor complex (GO:0005899)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	insulin receptor binding (GO:0005158)|insulin-like growth factor receptor binding (GO:0005159)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein kinase C binding (GO:0005080)|SH2 domain binding (GO:0042169)|signal transducer activity (GO:0004871)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(10)|lung(33)|ovary(6)|pancreas(1)|prostate(1)|urinary_tract(2)	69		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)		GTGGCCACAGCGCCTGATGTT	0.597											OREG0015248	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000305123.4																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(10)|lung(33)|ovary(6)|pancreas(1)|prostate(1)|urinary_tract(2)	69						c.(637-639)cGc>cAc		insulin receptor substrate 1							70	74	73					2																	227662817		2203	4300	6503	SO:0001583	missense	3667				fibroblast growth factor receptor signaling pathway|glucose homeostasis|insulin receptor signaling pathway|negative regulation of insulin receptor signaling pathway|negative regulation of insulin secretion|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity	caveola|cytosol|insulin receptor complex|microsome|nucleus	insulin receptor binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase binding|protein kinase C binding|SH2 domain binding|transmembrane receptor protein tyrosine kinase adaptor activity	g.chr2:227662817C>T		CCDS2463.1	2q36	2013-01-10			ENSG00000169047	ENSG00000169047		"Pleckstrin homology (PH) domain containing"	6125	protein-coding gene	gene with protein product		147545				1648180	Standard	NM_005544		Approved	HIRS-1	uc002voh.4	P35568	OTTHUMG00000133179	ENST00000305123.5:c.638G>A	2.37:g.227662817C>T	ENSP00000304895:p.Arg213His		OREG0015248	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	2321		p.R213H	NM_005544.2	NP_005535.1	P35568	IRS1_HUMAN		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)	1	1658	-		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)	213			IRS-type PTB.			Missense_Mutation	SNP	ENST00000305123.5	37	c.638G>A	CCDS2463.1	.	.	.	.	.	.	.	.	.	.	C	28.8	4.949130	0.92660	.	.	ENSG00000169047	ENST00000305123	T	0.60548	0.18	5.78	5.78	0.91487	Pleckstrin homology-type (1);Insulin receptor substrate-1, PTB (4);	0.000000	0.64402	D	0.000002	T	0.80954	0.4723	M	0.87180	2.865	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.83304	-0.0026	10	0.87932	D	0	-44.5186	20.0016	0.97412	0.0:1.0:0.0:0.0	.	213	P35568	IRS1_HUMAN	H	213	ENSP00000304895:R213H	ENSP00000304895:R213H	R	-	2	0	IRS1	227371061	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	7.818000	0.86416	2.731000	0.93534	0.555000	0.69702	CGC		0.597	IRS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256886.3	NM_005544		16	29	0	0	0	1	0	16	29					T	227662817	C	T	227662817	3	4	435	1	0	0	0	0	1	0	0	0	7840	768	27	1	3094	1	IRS1	2	227662817	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	1216160	227662817	15536556	1547	22472											
COL4A3	1285	broad.mit.edu	37	chr2	228134636	228134636	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgatttgcaggaagacaaggCgcagctggcttgaaaggaag	13	7	15	6	1	0	3	0	2	0	1	0	5	0	5	0	4	2	4	0	4	4	2	rs200416402		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:228134636C>T	ENST00000396578.3	+	24	1677	c.1515C>T	c.(1513-1515)ggC>ggT	p.G505G	AC097662.2_ENST00000396588.2_RNA|AC097662.2_ENST00000433324.1_RNA|AC097662.2_ENST00000439598.2_RNA	NM_000091.4	NP_000082.2	Q01955	CO4A3_HUMAN	collagen, type IV, alpha 3 (Goodpasture antigen)	505	Triple-helical region.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|axon guidance (GO:0007411)|blood circulation (GO:0008015)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|collagen catabolic process (GO:0030574)|endothelial cell apoptotic process (GO:0072577)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glomerular basement membrane development (GO:0032836)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell proliferation (GO:0008285)|negative regulation of endopeptidase activity (GO:0010951)|sensory perception of sound (GO:0007605)	basement membrane (GO:0005604)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)|integrin binding (GO:0005178)|metalloendopeptidase inhibitor activity (GO:0008191)|structural molecule activity (GO:0005198)			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247)		Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187)		GAAGACAAGGCGCAGCTGGCT	0.398													T|||	1	0.000199681	0	0.0014	5008	,	,		17762	0		0	False		,,,				2504	0					ENST00000396578.3																			0				NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	55						c.(1513-1515)ggC>ggT		collagen, type IV, alpha 3 (Goodpasture antigen)							84	87	86					2																	228134636		1886	4117	6003	SO:0001819	synonymous_variant	1285				activation of caspase activity|axon guidance|blood circulation|cell adhesion|cell proliferation|cell surface receptor linked signaling pathway|glomerular basement membrane development|induction of apoptosis|negative regulation of angiogenesis|negative regulation of cell proliferation|sensory perception of sound	collagen type IV	extracellular matrix structural constituent|integrin binding|metalloendopeptidase inhibitor activity	g.chr2:228134636C>T		CCDS42829.1	2q36-q37	2014-09-17			ENSG00000169031	ENSG00000169031		"Collagens"	2204	protein-coding gene	gene with protein product	"tumstatin"	120070				1737849	Standard	NM_000091		Approved		uc002vom.2	Q01955	OTTHUMG00000149891	ENST00000396578.3:c.1515C>T	2.37:g.228134636C>T						AC097662.2_ENST00000433324.1_RNA|AC097662.2_ENST00000439598.2_RNA|AC097662.2_ENST00000396588.2_RNA	p.G505G	NM_000091.4	NP_000082.2	Q01955	CO4A3_HUMAN		Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187)	24	1677	+		all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247)	505			Triple-helical region.		Q53QQ1|Q53R14|Q53RW8|Q9BQT2|Q9NYC4|Q9UDJ9|Q9UDK9|Q9UDL0|Q9UDL1	Silent	SNP	ENST00000396578.3	37	c.1515C>T	CCDS42829.1																																																																																				0.398	COL4A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331409.2	NM_000091		11	15	0	0	0	1	0	11	15					T	228134636	C	T	228134636	2	4	435	1	0	0	0	0	0	0	0	1	3691	755	27	1		1	COL4A3	2	228134636	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	471819	228134636	15064737	1548	22473											
COL4A3	1285	broad.mit.edu	37	chr2	228135612	228135612	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	aacctgggagaaagggcttgGatggaattcctggaactccg	11	8	14	8	1	0	1	0	0	0	1	2	5	2	4	3	5	2	1	3	5	4	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:228135612G>A	ENST00000396578.3	+	25	1864	c.1702G>A	c.(1702-1704)Gat>Aat	p.D568N	AC097662.2_ENST00000396588.2_RNA|AC097662.2_ENST00000433324.1_RNA|AC097662.2_ENST00000439598.2_RNA	NM_000091.4	NP_000082.2	Q01955	CO4A3_HUMAN	collagen, type IV, alpha 3 (Goodpasture antigen)	568	Triple-helical region.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|axon guidance (GO:0007411)|blood circulation (GO:0008015)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|collagen catabolic process (GO:0030574)|endothelial cell apoptotic process (GO:0072577)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glomerular basement membrane development (GO:0032836)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell proliferation (GO:0008285)|negative regulation of endopeptidase activity (GO:0010951)|sensory perception of sound (GO:0007605)	basement membrane (GO:0005604)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)|integrin binding (GO:0005178)|metalloendopeptidase inhibitor activity (GO:0008191)|structural molecule activity (GO:0005198)			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247)		Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187)		AAAGGGCTTGGATGGAATTCC	0.507																																						ENST00000396578.3																			0				NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	55						c.(1702-1704)Gat>Aat		collagen, type IV, alpha 3 (Goodpasture antigen)							56	60	59					2																	228135612		1857	4095	5952	SO:0001583	missense	1285				activation of caspase activity|axon guidance|blood circulation|cell adhesion|cell proliferation|cell surface receptor linked signaling pathway|glomerular basement membrane development|induction of apoptosis|negative regulation of angiogenesis|negative regulation of cell proliferation|sensory perception of sound	collagen type IV	extracellular matrix structural constituent|integrin binding|metalloendopeptidase inhibitor activity	g.chr2:228135612G>A		CCDS42829.1	2q36-q37	2014-09-17			ENSG00000169031	ENSG00000169031		"Collagens"	2204	protein-coding gene	gene with protein product	"tumstatin"	120070				1737849	Standard	NM_000091		Approved		uc002vom.2	Q01955	OTTHUMG00000149891	ENST00000396578.3:c.1702G>A	2.37:g.228135612G>A	ENSP00000379823:p.Asp568Asn					AC097662.2_ENST00000433324.1_RNA|AC097662.2_ENST00000439598.2_RNA|AC097662.2_ENST00000396588.2_RNA	p.D568N	NM_000091.4	NP_000082.2	Q01955	CO4A3_HUMAN		Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187)	25	1864	+		all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247)	568			Triple-helical region.		Q53QQ1|Q53R14|Q53RW8|Q9BQT2|Q9NYC4|Q9UDJ9|Q9UDK9|Q9UDL0|Q9UDL1	Missense_Mutation	SNP	ENST00000396578.3	37	c.1702G>A	CCDS42829.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.314886	0.81358	.	.	ENSG00000169031	ENST00000396578;ENST00000328380;ENST00000335583;ENST00000396574;ENST00000315699	D	0.93247	-3.19	5.8	5.8	0.92144	.	0.311921	0.27730	N	0.018100	D	0.92143	0.7509	N	0.10916	0.065	0.48288	D	0.999624	D;D;D;D	0.89917	0.999;0.999;1.0;1.0	D;D;D;D	0.74348	0.973;0.973;0.983;0.963	D	0.90134	0.4208	10	0.18710	T	0.47	.	16.9678	0.86290	0.0:0.0:1.0:0.0	.	568;568;568;568	Q01955-5;Q01955-4;Q01955-2;Q01955	.;.;.;CO4A3_HUMAN	N	568	ENSP00000379823:D568N	ENSP00000323334:D568N	D	+	1	0	COL4A3	227843856	1.000000	0.71417	0.960000	0.40013	0.995000	0.86356	4.490000	0.60319	2.740000	0.93945	0.650000	0.86243	GAT		0.507	COL4A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331409.2	NM_000091		14	16	0	0	0	1	0	14	16					A	228135612	G	A	228135612	3	1	435	1	0	0	0	0	1	0	0	0	3691	1174	41	3	1800	3	COL4A3	2	228135612	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	976	228135612	15063761	1549	22474											
MFF	56947	broad.mit.edu	37	chr2	228195470	228195470	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cccagaaaagttaaaagtagCaccgccaaacgctgacctgg	15	5	9	12	2	0	2	0	1	0	1	0	2	0	2	4	1	2	4	4	1	6	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:228195470C>T	ENST00000353339.3	+	4	608	c.167C>T	c.(166-168)gCa>gTa	p.A56V	MFF_ENST00000354503.6_Missense_Mutation_p.A30V|MFF_ENST00000524634.1_Intron|MFF_ENST00000337110.7_Missense_Mutation_p.A30V|MFF_ENST00000476924.1_Intron|MFF_ENST00000409616.1_Missense_Mutation_p.A30V|MFF_ENST00000349901.7_Missense_Mutation_p.A30V|MFF_ENST00000304593.9_Missense_Mutation_p.A30V|MFF_ENST00000409565.1_Missense_Mutation_p.A30V|MFF_ENST00000392059.1_Missense_Mutation_p.A56V	NM_001277061.1	NP_001263990.1	Q9GZY8	MFF_HUMAN	mitochondrial fission factor	56					mitochondrial fission (GO:0000266)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|mitochondrial fusion (GO:0008053)|mitochondrion morphogenesis (GO:0070584)|peroxisome fission (GO:0016559)|positive regulation of mitochondrial fission (GO:0090141)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|protein homooligomerization (GO:0051260)|protein targeting to mitochondrion (GO:0006626)|regulation of mitochondrion organization (GO:0010821)|regulation of peroxisome organization (GO:1900063)|release of cytochrome c from mitochondria (GO:0001836)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|integral component of mitochondrial membrane (GO:0032592)|mitochondrial outer membrane (GO:0005741)|peroxisome (GO:0005777)|synapse (GO:0045202)	protein homodimerization activity (GO:0042803)			breast(3)|endometrium(2)|kidney(3)|large_intestine(7)|lung(4)|stomach(2)	21						TTAAAAGTAGCACCGCCAAAC	0.438																																						ENST00000353339.3																			0				breast(3)|endometrium(2)|kidney(3)|large_intestine(7)|lung(4)|stomach(2)	21						c.(166-168)gCa>gTa		mitochondrial fission factor							97	83	88					2																	228195470		2203	4300	6503	SO:0001583	missense	56947					integral to membrane|mitochondrial outer membrane		g.chr2:228195470C>T	AF258660	CCDS2465.1, CCDS63139.1, CCDS63140.1, CCDS63141.1, CCDS63142.1, CCDS74662.1	2q36	2008-05-29	2008-05-29	2008-05-29	ENSG00000168958	ENSG00000168958			24858	protein-coding gene	gene with protein product		614785	"chromosome 2 open reading frame 33"	C2orf33		18353969	Standard	NM_001277061		Approved	GL004	uc002voy.4	Q9GZY8	OTTHUMG00000133180	ENST00000353339.3:c.167C>T	2.37:g.228195470C>T	ENSP00000302037:p.Ala56Val					MFF_ENST00000392059.1_Missense_Mutation_p.A56V|MFF_ENST00000354503.6_Missense_Mutation_p.A30V|MFF_ENST00000409616.1_Missense_Mutation_p.A30V|MFF_ENST00000476924.1_Intron|MFF_ENST00000349901.7_Missense_Mutation_p.A30V|MFF_ENST00000304593.9_Missense_Mutation_p.A30V|MFF_ENST00000409565.1_Missense_Mutation_p.A30V|MFF_ENST00000524634.1_Intron|MFF_ENST00000337110.7_Missense_Mutation_p.A30V	p.A56V	NM_001277061.1	NP_001263990.1	Q9GZY8	MFF_HUMAN			4	608	+			56					Q567U1|Q658R6|Q9BVZ1|Q9H690|Q9NRG8	Missense_Mutation	SNP	ENST00000353339.3	37	c.167C>T	CCDS2465.1	.	.	.	.	.	.	.	.	.	.	C	36	5.704055	0.96812	.	.	ENSG00000168958	ENST00000423098;ENST00000304593;ENST00000353339;ENST00000354503;ENST00000409565;ENST00000452930;ENST00000409616;ENST00000337110;ENST00000525195;ENST00000349901;ENST00000443428;ENST00000418961;ENST00000392059	T;T;T	0.47869	1.41;0.83;1.41	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	T	0.69070	0.3070	M	0.69823	2.125	0.80722	D	1	P;D;D;D;D;D	0.89917	0.909;1.0;0.998;1.0;0.999;0.999	P;D;D;D;D;D	0.91635	0.65;0.999;0.957;0.998;0.997;0.985	T	0.63028	-0.6728	10	0.28530	T	0.3	-21.4612	20.063	0.97692	0.0:1.0:0.0:0.0	.	30;30;30;30;30;56	Q9GZY8-4;Q9GZY8-3;Q9GZY8-5;C9JHF5;Q9GZY8-2;Q9GZY8	.;.;.;.;.;MFF_HUMAN	V	30;30;56;30;30;30;30;30;30;30;56;30;56	ENSP00000302037:A56V;ENSP00000391829:A56V;ENSP00000375912:A56V	ENSP00000304898:A30V	A	+	2	0	MFF	227903714	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.461000	0.80834	2.741000	0.93983	0.650000	0.86243	GCA		0.438	MFF-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256887.2	NM_020194		16	24	0	0	0	1	0	16	24					T	228195470	C	T	228195470	3	4	435	1	0	0	0	0	1	0	0	0	9519	710	25	3	173	3	MFF	2	228195470	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	59858	228195470	15003903	1550	22475											
MFF	56947	broad.mit.edu	37	chr2	228205038	228205038	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttggcagactaaaaagagagCggtctatgagtgaaaatgct	15	9	12	5	1	1	4	0	2	1	2	1	5	1	4	0	2	2	2	0	2	6	3	rs548889465		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:228205038C>T	ENST00000353339.3	+	6	901	c.460C>T	c.(460-462)Cgg>Tgg	p.R154W	MFF_ENST00000409565.1_Missense_Mutation_p.R128W|MFF_ENST00000304593.9_Missense_Mutation_p.R128W|MFF_ENST00000354503.6_Missense_Mutation_p.R128W|MFF_ENST00000337110.7_Missense_Mutation_p.R128W|MFF_ENST00000409616.1_Missense_Mutation_p.R128W|MFF_ENST00000349901.7_Missense_Mutation_p.R128W|MFF_ENST00000524634.1_5'UTR|MFF_ENST00000476924.1_3'UTR|MFF_ENST00000392059.1_Missense_Mutation_p.R154W	NM_001277061.1	NP_001263990.1	Q9GZY8	MFF_HUMAN	mitochondrial fission factor	154					mitochondrial fission (GO:0000266)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|mitochondrial fusion (GO:0008053)|mitochondrion morphogenesis (GO:0070584)|peroxisome fission (GO:0016559)|positive regulation of mitochondrial fission (GO:0090141)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|protein homooligomerization (GO:0051260)|protein targeting to mitochondrion (GO:0006626)|regulation of mitochondrion organization (GO:0010821)|regulation of peroxisome organization (GO:1900063)|release of cytochrome c from mitochondria (GO:0001836)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|integral component of mitochondrial membrane (GO:0032592)|mitochondrial outer membrane (GO:0005741)|peroxisome (GO:0005777)|synapse (GO:0045202)	protein homodimerization activity (GO:0042803)			breast(3)|endometrium(2)|kidney(3)|large_intestine(7)|lung(4)|stomach(2)	21						AAAAAGAGAGCGGTCTATGAG	0.408																																						ENST00000353339.3																			0				breast(3)|endometrium(2)|kidney(3)|large_intestine(7)|lung(4)|stomach(2)	21						c.(460-462)Cgg>Tgg		mitochondrial fission factor							87	81	83					2																	228205038		2203	4300	6503	SO:0001583	missense	56947					integral to membrane|mitochondrial outer membrane		g.chr2:228205038C>T	AF258660	CCDS2465.1, CCDS63139.1, CCDS63140.1, CCDS63141.1, CCDS63142.1, CCDS74662.1	2q36	2008-05-29	2008-05-29	2008-05-29	ENSG00000168958	ENSG00000168958			24858	protein-coding gene	gene with protein product		614785	"chromosome 2 open reading frame 33"	C2orf33		18353969	Standard	NM_001277061		Approved	GL004	uc002voy.4	Q9GZY8	OTTHUMG00000133180	ENST00000353339.3:c.460C>T	2.37:g.228205038C>T	ENSP00000302037:p.Arg154Trp					MFF_ENST00000392059.1_Missense_Mutation_p.R154W|MFF_ENST00000354503.6_Missense_Mutation_p.R128W|MFF_ENST00000409616.1_Missense_Mutation_p.R128W|MFF_ENST00000476924.1_3'UTR|MFF_ENST00000349901.7_Missense_Mutation_p.R128W|MFF_ENST00000304593.9_Missense_Mutation_p.R128W|MFF_ENST00000409565.1_Missense_Mutation_p.R128W|MFF_ENST00000524634.1_5'UTR|MFF_ENST00000337110.7_Missense_Mutation_p.R128W	p.R154W	NM_001277061.1	NP_001263990.1	Q9GZY8	MFF_HUMAN			6	901	+			154					Q567U1|Q658R6|Q9BVZ1|Q9H690|Q9NRG8	Missense_Mutation	SNP	ENST00000353339.3	37	c.460C>T	CCDS2465.1	.	.	.	.	.	.	.	.	.	.	C	24.9	4.578705	0.86645	.	.	ENSG00000168958	ENST00000304593;ENST00000353339;ENST00000354503;ENST00000409565;ENST00000452930;ENST00000409616;ENST00000337110;ENST00000349901;ENST00000392059;ENST00000456345	T;T	0.36520	1.25;1.25	5.95	5.0	0.66597	.	0.000000	0.85682	D	0.000000	T	0.58750	0.2144	M	0.61703	1.905	0.58432	D	0.999997	D;D;D;D;D;D	0.89917	0.995;0.999;0.997;0.99;1.0;1.0	P;P;P;P;D;D	0.78314	0.707;0.857;0.533;0.536;0.99;0.991	T	0.60100	-0.7329	10	0.72032	D	0.01	-12.1131	17.8995	0.88899	0.1296:0.8703:0.0:0.0	.	128;128;128;128;128;154	Q9GZY8-4;Q9GZY8-3;Q9GZY8-5;C9JHF5;Q9GZY8-2;Q9GZY8	.;.;.;.;.;MFF_HUMAN	W	128;154;128;128;128;128;128;128;154;11	ENSP00000302037:R154W;ENSP00000375912:R154W	ENSP00000304898:R128W	R	+	1	2	MFF	227913282	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.764000	0.62264	2.824000	0.97209	0.655000	0.94253	CGG		0.408	MFF-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256887.2	NM_020194		7	14	0	0	0	1	0	7	14					T	228205038	C	T	228205038	3	4	435	1	0	0	0	0	1	0	0	0	9519	759	27	1	474	1	MFF	2	228205038	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	9568	228205038	14994335	1551	22476											
AGFG1	3267	broad.mit.edu	37	chr2	228399714	228399714	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgcagccacctccagtaatgCgtatacttccacaagtaatg	12	10	7	12	1	0	0	0	0	0	0	2	0	2	0	4	0	4	4	4	0	5	5	rs142955065	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:228399714C>T	ENST00000310078.8	+	8	1438	c.1178C>T	c.(1177-1179)gCg>gTg	p.A393V	AGFG1_ENST00000409979.2_Missense_Mutation_p.A417V|AGFG1_ENST00000373671.3_Missense_Mutation_p.A353V|AGFG1_ENST00000409315.1_Missense_Mutation_p.A372V|AGFG1_ENST00000409171.1_Missense_Mutation_p.A393V	NM_001135188.1|NM_001135189.1|NM_004504.4	NP_001128660.1|NP_001128661.1|NP_004495.2	P52594	AGFG1_HUMAN	ArfGAP with FG repeats 1	393					cell differentiation (GO:0030154)|mRNA export from nucleus (GO:0006406)|multicellular organismal development (GO:0007275)|regulation of ARF GTPase activity (GO:0032312)|spermatogenesis (GO:0007283)	cytoplasmic vesicle (GO:0031410)|intracellular membrane-bounded organelle (GO:0043231)|nuclear pore (GO:0005643)	ARF GTPase activator activity (GO:0008060)|DNA binding (GO:0003677)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|large_intestine(5)|liver(2)|lung(2)|ovary(1)|prostate(1)|skin(4)|stomach(1)	18						TCCAGTAATGCGTATACTTCC	0.418																																						ENST00000310078.7																			0				central_nervous_system(1)|endometrium(1)|large_intestine(5)|liver(2)|lung(2)|ovary(1)|prostate(1)|skin(4)|stomach(1)	18						c.(1177-1179)gCg>gTg		ArfGAP with FG repeats 1		C	VAL/ALA,VAL/ALA,VAL/ALA,VAL/ALA	0,4406		0,0,2203	133	121	125		1250,1178,1058,1178	5.9	1	2	dbSNP_134	125	3,8597	3.0+/-9.4	0,3,4297	yes	missense,missense,missense,missense	AGFG1	NM_001135187.1,NM_001135188.1,NM_001135189.1,NM_004504.4	64,64,64,64	0,3,6500	TT,TC,CC		0.0349,0.0,0.0231	probably-damaging,probably-damaging,probably-damaging,probably-damaging	417/585,393/561,353/523,393/563	228399714	3,13003	2203	4300	6503	SO:0001583	missense	3267				cell differentiation|mRNA export from nucleus|multicellular organismal development|regulation of ARF GTPase activity|spermatogenesis	cytoplasmic membrane-bounded vesicle|Golgi apparatus|nuclear pore	ARF GTPase activator activity|DNA binding|protein binding|RNA binding|zinc ion binding	g.chr2:228399714C>T		CCDS2467.1, CCDS46533.1, CCDS46534.1, CCDS46535.1	2q36	2009-11-30	2008-09-22	2008-09-22	ENSG00000173744	ENSG00000173744		"ADP-ribosylation factor GTPase activating proteins"	5175	protein-coding gene	gene with protein product		600862	"HIV-1 Rev binding protein"	HRB		7637788	Standard	NM_004504		Approved	RIP, RAB	uc002vpd.2	P52594	OTTHUMG00000133186	ENST00000310078.8:c.1178C>T	2.37:g.228399714C>T	ENSP00000312059:p.Ala393Val					AGFG1_ENST00000373671.3_Missense_Mutation_p.A353V|AGFG1_ENST00000409171.1_Missense_Mutation_p.A393V|AGFG1_ENST00000409315.1_Missense_Mutation_p.A372V|AGFG1_ENST00000409979.2_Missense_Mutation_p.A417V	p.A393V	NM_001135188.1|NM_004504.4	NP_001128660.1|NP_004495.2	P52594	AGFG1_HUMAN			8	1438	+			393					B3KUL1|E9PHX7|Q15277|Q4VAS0|Q4VAS1|Q4VAS3|Q53QT8|Q53R11	Missense_Mutation	SNP	ENST00000310078.8	37	c.1178C>T	CCDS2467.1	.	.	.	.	.	.	.	.	.	.	C	16.26	3.072671	0.55646	0.0	3.49E-4	ENSG00000173744	ENST00000409979;ENST00000542592;ENST00000310078;ENST00000409315;ENST00000373671;ENST00000409171	T;T;T;T;T	0.24908	1.91;1.83;1.89;1.91;1.83	5.9	5.9	0.94986	.	0.112200	0.64402	D	0.000009	T	0.15912	0.0383	N	0.19112	0.55	0.44477	D	0.997413	B;B;B;B	0.33379	0.41;0.009;0.112;0.014	B;B;B;B	0.17979	0.02;0.008;0.005;0.003	T	0.09100	-1.0690	10	0.15499	T	0.54	.	18.4625	0.90745	0.0:1.0:0.0:0.0	.	353;393;417;393	P52594-2;P52594-3;E9PHX7;P52594	.;.;.;AGFG1_HUMAN	V	417;402;393;372;353;393	ENSP00000387282:A417V;ENSP00000312059:A393V;ENSP00000387154:A372V;ENSP00000362775:A353V;ENSP00000387218:A393V	ENSP00000312059:A393V	A	+	2	0	AGFG1	228107958	0.996000	0.38824	0.970000	0.41538	0.974000	0.67602	3.736000	0.55052	2.805000	0.96524	0.650000	0.86243	GCG		0.418	AGFG1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256895.2	NM_004504		20	28	0	0	0	1	0	20	28					T	228399714	C	T	228399714	3	4	435	1	0	0	0	0	1	0	0	0	380	768	27	1	1284	1	AGFG1	2	228399714	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	194676	228399714	14799659	1552	22477											
SLC19A3	80704	broad.mit.edu	37	chr2	228563579	228563579	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cctgctgtggcgaaagcccaCcatagagaccagtagaaaag	14	5	11	11	1	0	2	0	0	0	2	0	4	0	2	4	1	2	2	4	1	5	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:228563579C>T	ENST00000258403.3	-	3	923	c.852G>A	c.(850-852)tgG>tgA	p.W284*	SLC19A3_ENST00000409287.1_Intron|SLC19A3_ENST00000541617.1_Nonsense_Mutation_p.W280*	NM_025243.3	NP_079519.1	Q9BZV2	S19A3_HUMAN	solute carrier family 19 (thiamine transporter), member 3	284					small molecule metabolic process (GO:0044281)|thiamine transmembrane transport (GO:0071934)|thiamine-containing compound metabolic process (GO:0042723)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	thiamine uptake transmembrane transporter activity (GO:0015403)			breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(5)|lung(8)|ovary(2)|skin(3)	30		Renal(207;0.0112)|all_lung(227;0.0335)|Lung NSC(271;0.142)|all_hematologic(139;0.21)|Esophageal squamous(248;0.236)		Epithelial(121;1.58e-10)|all cancers(144;8.55e-08)|Lung(261;0.00948)|LUSC - Lung squamous cell carcinoma(224;0.0125)	L-Cysteine(DB00151)	CGAAAGCCCACCATAGAGACC	0.458																																						ENST00000258403.3																			0				breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(5)|lung(8)|ovary(2)|skin(3)	30						c.(850-852)tgG>tgA		solute carrier family 19 (thiamine transporter), member 3	L-Cysteine(DB00151)						82	82	82					2																	228563579		2203	4300	6503	SO:0001587	stop_gained	80704				thiamine-containing compound metabolic process	integral to membrane|plasma membrane	folic acid binding|reduced folate carrier activity|thiamine uptake transmembrane transporter activity	g.chr2:228563579C>T	AF271633	CCDS2468.1	2q37	2013-07-18	2013-07-18		ENSG00000135917	ENSG00000135917		"Solute carriers"	16266	protein-coding gene	gene with protein product	"thiamine transporter 2"	606152	"solute carrier family 19, member 3"			11136550, 15871139	Standard	XM_005246871		Approved	THTR2	uc002vpi.3	Q9BZV2	OTTHUMG00000133185	ENST00000258403.3:c.852G>A	2.37:g.228563579C>T	ENSP00000258403:p.Trp284*					SLC19A3_ENST00000541617.1_Nonsense_Mutation_p.W280*|SLC19A3_ENST00000409287.1_Intron	p.W284*	NM_025243.3	NP_079519.1	Q9BZV2	S19A3_HUMAN		Epithelial(121;1.58e-10)|all cancers(144;8.55e-08)|Lung(261;0.00948)|LUSC - Lung squamous cell carcinoma(224;0.0125)	3	923	-		Renal(207;0.0112)|all_lung(227;0.0335)|Lung NSC(271;0.142)|all_hematologic(139;0.21)|Esophageal squamous(248;0.236)	284						Nonsense_Mutation	SNP	ENST00000258403.3	37	c.852G>A	CCDS2468.1	.	.	.	.	.	.	.	.	.	.	C	37	6.218941	0.97385	.	.	ENSG00000135917	ENST00000258403;ENST00000541617	.	.	.	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-3.024	19.9596	0.97236	0.0:1.0:0.0:0.0	.	.	.	.	X	284;280	.	ENSP00000258403:W284X	W	-	3	0	SLC19A3	228271823	1.000000	0.71417	1.000000	0.80357	0.823000	0.46562	7.487000	0.81328	2.726000	0.93360	0.655000	0.94253	TGG		0.458	SLC19A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256894.1			26	39	0	0	0	1	0	26	39					T	228563579	C	T	228563579	4	4	435	1	0	0	0	0	0	1	0	0	14430	508	18	3	654	3	SLC19A3	2	228563579	Nonsense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	163865	228563579	14635794	1553	22478											
SPHKAP	80309	broad.mit.edu	37	chr2	228883382	228883382	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacagcaggacattcaccaaGccgtacaatatgactcatct	14	8	7	12	1	3	1	2	1	1	0	3	3	3	2	2	1	3	2	2	1	4	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:228883382G>T	ENST00000392056.3	-	7	2234	c.2188C>A	c.(2188-2190)Ctt>Att	p.L730I	SPHKAP_ENST00000344657.5_Missense_Mutation_p.L730I	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	730						extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|Z disc (GO:0030018)	protein kinase A binding (GO:0051018)			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		CATTCACCAAGCCGTACAATA	0.453																																						ENST00000392056.3																			0				NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185						c.(2188-2190)Ctt>Att		SPHK1 interactor, AKAP domain containing							169	153	159					2																	228883382		2203	4300	6503	SO:0001583	missense	80309					cytoplasm	protein binding	g.chr2:228883382G>T		CCDS33389.1, CCDS46537.1	2q36.3	2010-08-20			ENSG00000153820	ENSG00000153820		"A-kinase anchor proteins"	30619	protein-coding gene	gene with protein product	"sphingosine kinase type 1-interacting protein"	611646				12080051, 11214970	Standard	NM_030623		Approved	SKIP	uc002vpq.2	Q2M3C7	OTTHUMG00000153584	ENST00000392056.3:c.2188C>A	2.37:g.228883382G>T	ENSP00000375909:p.Leu730Ile					SPHKAP_ENST00000344657.5_Missense_Mutation_p.L730I	p.L730I	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)	7	2234	-		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)	730					Q68DA3|Q68DR8|Q9C0I5	Missense_Mutation	SNP	ENST00000392056.3	37	c.2188C>A	CCDS46537.1	.	.	.	.	.	.	.	.	.	.	G	2.472	-0.321682	0.05386	.	.	ENSG00000153820	ENST00000392056;ENST00000344657	T;T	0.12569	2.67;2.67	5.61	2.24	0.28232	.	0.472911	0.25456	N	0.030543	T	0.10766	0.0263	L	0.53249	1.67	0.09310	N	1	P;P	0.39424	0.483;0.673	B;B	0.37144	0.122;0.242	T	0.20538	-1.0272	10	0.51188	T	0.08	.	1.9555	0.03375	0.2471:0.1425:0.4649:0.1454	.	730;730	Q2M3C7;Q2M3C7-2	SPKAP_HUMAN;.	I	730	ENSP00000375909:L730I;ENSP00000339886:L730I	ENSP00000339886:L730I	L	-	1	0	SPHKAP	228591626	0.000000	0.05858	0.001000	0.08648	0.052000	0.14988	-0.011000	0.12721	0.791000	0.33826	0.655000	0.94253	CTT		0.453	SPHKAP-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331750.1	NM_030623		48	60	1	0	2.64894e-19	1	2.93014e-19	48	60					T	228883382	G	T	228883382	3	4	435	1	0	0	0	0	1	0	0	0	15047	971	34	5	2938	5	SPHKAP	2	228883382	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	319803	228883382	14315991	1554	22479											
PID1	55022	broad.mit.edu	37	chr2	229890602	229890602	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggtcggcggtgcagtaggCgatgcgggccacctggaagg	6	6	20	9	4	0	0	0	0	0	0	1	2	0	1	2	7	2	2	2	7	2	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:229890602C>T	ENST00000354069.6	-	3	529	c.499G>A	c.(499-501)Gcc>Acc	p.A167T	PID1_ENST00000392054.3_Missense_Mutation_p.A165T|PID1_ENST00000482518.2_Intron|PID1_ENST00000409462.1_Missense_Mutation_p.A85T|PID1_ENST00000392055.3_Missense_Mutation_p.A134T			Q7Z2X4	PCLI1_HUMAN	phosphotyrosine interaction domain containing 1	167	PID. {ECO:0000255|PROSITE- ProRule:PRU00148}.				cellular response to cytokine stimulus (GO:0071345)|cellular response to fatty acid (GO:0071398)|cellular response to interleukin-6 (GO:0071354)|cellular response to leptin stimulus (GO:0044320)|cellular response to tumor necrosis factor (GO:0071356)|energy reserve metabolic process (GO:0006112)|mitochondrion morphogenesis (GO:0070584)|negative regulation of ATP biosynthetic process (GO:2001170)|negative regulation of establishment of protein localization to plasma membrane (GO:0090005)|negative regulation of glucose import in response to insulin stimulus (GO:2001274)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of mitochondrial DNA replication (GO:0090298)|negative regulation of protein phosphorylation (GO:0001933)|positive regulation of ATP biosynthetic process (GO:2001171)|positive regulation of fat cell proliferation (GO:0070346)|positive regulation of gene expression (GO:0010628)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of G1/S transition of mitotic cell cycle (GO:2000045)|regulation of mitochondrial fusion (GO:0010635)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of reactive oxygen species metabolic process (GO:2000377)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(4)|endometrium(3)|large_intestine(5)|lung(8)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	26		Renal(207;0.0112)|all_lung(227;0.0191)|Lung NSC(271;0.0851)|all_hematologic(139;0.104)|Acute lymphoblastic leukemia(138;0.171)		Epithelial(121;3.08e-11)|all cancers(144;2.28e-08)|LUSC - Lung squamous cell carcinoma(224;0.0145)|Lung(261;0.0189)		GTGCAGTAGGCGATGCGGGCC	0.587																																						ENST00000392054.3																			0				breast(4)|endometrium(3)|large_intestine(5)|lung(8)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	26						c.(493-495)Gcc>Acc		phosphotyrosine interaction domain containing 1							142	130	134					2																	229890602		2203	4300	6503	SO:0001583	missense	55022					cytoplasm		g.chr2:229890602C>T	AK096636	CCDS2471.1, CCDS42830.1	2q36.3	2007-02-02			ENSG00000153823	ENSG00000153823			26084	protein-coding gene	gene with protein product		612930				17124247, 16815647, 15221005	Standard	NM_001100818		Approved	NYGGF4, FLJ20701	uc002vps.4	Q7Z2X4	OTTHUMG00000133191	ENST00000354069.6:c.499G>A	2.37:g.229890602C>T	ENSP00000283937:p.Ala167Thr					PID1_ENST00000409462.1_Missense_Mutation_p.A85T|PID1_ENST00000392055.3_Missense_Mutation_p.A134T|PID1_ENST00000482518.2_Intron|PID1_ENST00000354069.6_Missense_Mutation_p.A167T	p.A165T	NM_017933.4	NP_060403.3	Q7Z2X4	PCLI1_HUMAN		Epithelial(121;3.08e-11)|all cancers(144;2.28e-08)|LUSC - Lung squamous cell carcinoma(224;0.0145)|Lung(261;0.0189)	4	832	-		Renal(207;0.0112)|all_lung(227;0.0191)|Lung NSC(271;0.0851)|all_hematologic(139;0.104)|Acute lymphoblastic leukemia(138;0.171)	167			PID.		B3KU82|Q68CJ2|Q6ZUS3|Q8IXL0|Q9NWP6	Missense_Mutation	SNP	ENST00000354069.6	37	c.493G>A		.	.	.	.	.	.	.	.	.	.	C	14.53	2.563463	0.45694	.	.	ENSG00000153823	ENST00000392054;ENST00000409462;ENST00000392055;ENST00000542363;ENST00000354069	.	.	.	5.85	5.85	0.93711	Phosphotyrosine interaction domain (2);Pleckstrin homology-type (1);	0.000000	0.85682	D	0.000000	T	0.64472	0.2601	N	0.17674	0.51	0.80722	D	1	D;D;D;D	0.89917	0.999;0.999;1.0;1.0	D;D;D;D	0.87578	0.99;0.99;0.998;0.997	T	0.61422	-0.7066	8	.	.	.	-37.0042	19.1613	0.93533	0.0:1.0:0.0:0.0	.	85;134;165;167	Q7Z2X4-3;Q7Z2X4-4;Q7Z2X4-2;Q7Z2X4	.;.;.;PCLI1_HUMAN	T	165;85;134;167;167	.	.	A	-	1	0	PID1	229598846	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.408000	0.80041	2.768000	0.95171	0.655000	0.94253	GCC		0.587	PID1-005	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000331810.2	NM_017933		11	48	0	0	0	1	0	11	48					T	229890602	C	T	229890602	3	4	435	1	0	0	0	0	1	0	0	0	11882	768	27	1	257	1	PID1	2	229890602	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	1007220	229890602	13308771	1555	22480											
PID1	55022	broad.mit.edu	37	chr2	229890683	229890683	+	Missense_Mutation	SNP	G	G	A																															atggagccaaacttggaatgGccggatttccaggagggcat																										TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:229890683G>A	ENST00000354069.6	-	3	448	c.418C>T	c.(418-420)Cca>Tca	p.P140S	PID1_ENST00000392054.3_Missense_Mutation_p.P138S|PID1_ENST00000482518.2_Intron|PID1_ENST00000409462.1_Missense_Mutation_p.P58S|PID1_ENST00000392055.3_Missense_Mutation_p.P107S			Q7Z2X4	PCLI1_HUMAN	phosphotyrosine interaction domain containing 1	140	PID. {ECO:0000255|PROSITE- ProRule:PRU00148}.				cellular response to cytokine stimulus (GO:0071345)|cellular response to fatty acid (GO:0071398)|cellular response to interleukin-6 (GO:0071354)|cellular response to leptin stimulus (GO:0044320)|cellular response to tumor necrosis factor (GO:0071356)|energy reserve metabolic process (GO:0006112)|mitochondrion morphogenesis (GO:0070584)|negative regulation of ATP biosynthetic process (GO:2001170)|negative regulation of establishment of protein localization to plasma membrane (GO:0090005)|negative regulation of glucose import in response to insulin stimulus (GO:2001274)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of mitochondrial DNA replication (GO:0090298)|negative regulation of protein phosphorylation (GO:0001933)|positive regulation of ATP biosynthetic process (GO:2001171)|positive regulation of fat cell proliferation (GO:0070346)|positive regulation of gene expression (GO:0010628)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of G1/S transition of mitotic cell cycle (GO:2000045)|regulation of mitochondrial fusion (GO:0010635)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of reactive oxygen species metabolic process (GO:2000377)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(4)|endometrium(3)|large_intestine(5)|lung(8)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	26		Renal(207;0.0112)|all_lung(227;0.0191)|Lung NSC(271;0.0851)|all_hematologic(139;0.104)|Acute lymphoblastic leukemia(138;0.171)		Epithelial(121;3.08e-11)|all cancers(144;2.28e-08)|LUSC - Lung squamous cell carcinoma(224;0.0145)|Lung(261;0.0189)		ACTTGGAATGGCCGGATTTCC	0.572																																						ENST00000392054.3																			0				breast(4)|endometrium(3)|large_intestine(5)|lung(8)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	26						c.(412-414)Cca>Tca		phosphotyrosine interaction domain containing 1							98	94	96					2																	229890683		2203	4300	6503	SO:0001583	missense	55022					cytoplasm		g.chr2:229890683G>A	AK096636	CCDS2471.1, CCDS42830.1	2q36.3	2007-02-02			ENSG00000153823	ENSG00000153823			26084	protein-coding gene	gene with protein product		612930				17124247, 16815647, 15221005	Standard	NM_001100818		Approved	NYGGF4, FLJ20701	uc002vps.4	Q7Z2X4	OTTHUMG00000133191	ENST00000354069.6:c.418C>T	2.37:g.229890683G>A	ENSP00000283937:p.Pro140Ser					PID1_ENST00000409462.1_Missense_Mutation_p.P58S|PID1_ENST00000392055.3_Missense_Mutation_p.P107S|PID1_ENST00000482518.2_Intron|PID1_ENST00000354069.6_Missense_Mutation_p.P140S	p.P138S	NM_017933.4	NP_060403.3	Q7Z2X4	PCLI1_HUMAN		Epithelial(121;3.08e-11)|all cancers(144;2.28e-08)|LUSC - Lung squamous cell carcinoma(224;0.0145)|Lung(261;0.0189)	4	751	-		Renal(207;0.0112)|all_lung(227;0.0191)|Lung NSC(271;0.0851)|all_hematologic(139;0.104)|Acute lymphoblastic leukemia(138;0.171)	140			PID.		B3KU82|Q68CJ2|Q6ZUS3|Q8IXL0|Q9NWP6	Missense_Mutation	SNP	ENST00000354069.6	37	c.412C>T		.	.	.	.	.	.	.	.	.	.	G	16.37	3.103446	0.56291	.	.	ENSG00000153823	ENST00000392054;ENST00000409462;ENST00000392055;ENST00000542363;ENST00000354069	.	.	.	5.46	5.46	0.80206	Pleckstrin homology-type (1);	0.050037	0.85682	D	0.000000	T	0.68476	0.3005	L	0.36672	1.1	0.80722	D	1	D;D;D;D	0.89917	0.999;0.999;1.0;1.0	D;D;D;D	0.91635	0.996;0.996;0.998;0.999	T	0.64706	-0.6344	8	.	.	.	-10.5446	18.6482	0.91419	0.0:0.0:1.0:0.0	.	58;107;138;140	Q7Z2X4-3;Q7Z2X4-4;Q7Z2X4-2;Q7Z2X4	.;.;.;PCLI1_HUMAN	S	138;58;107;140;140	.	.	P	-	1	0	PID1	229598927	1.000000	0.71417	0.551000	0.28230	0.947000	0.59692	9.195000	0.94971	2.721000	0.93114	0.655000	0.94253	CCA		0.572	PID1-005	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000331810.2	NM_017933		3	33	0	0	0	1	0	3	33					A	229890683	G	A	229890683	3	1	435	1	0	0	0	0	1	0	0	0	11882	1203	42	3	338	3	PID1	2	229890683	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	81	229890683	13308690	1556	22481	113	2									
PID1	55022	broad.mit.edu	37	chr2	229890687	229890687	+	Silent	SNP	G	G	A																															agccaaacttggaatggccgGatttccaggagggcattggc																										TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:229890687G>A	ENST00000354069.6	-	3	444	c.414C>T	c.(412-414)atC>atT	p.I138I	PID1_ENST00000392054.3_Silent_p.I136I|PID1_ENST00000482518.2_Intron|PID1_ENST00000409462.1_Silent_p.I56I|PID1_ENST00000392055.3_Silent_p.I105I			Q7Z2X4	PCLI1_HUMAN	phosphotyrosine interaction domain containing 1	138	PID. {ECO:0000255|PROSITE- ProRule:PRU00148}.				cellular response to cytokine stimulus (GO:0071345)|cellular response to fatty acid (GO:0071398)|cellular response to interleukin-6 (GO:0071354)|cellular response to leptin stimulus (GO:0044320)|cellular response to tumor necrosis factor (GO:0071356)|energy reserve metabolic process (GO:0006112)|mitochondrion morphogenesis (GO:0070584)|negative regulation of ATP biosynthetic process (GO:2001170)|negative regulation of establishment of protein localization to plasma membrane (GO:0090005)|negative regulation of glucose import in response to insulin stimulus (GO:2001274)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of mitochondrial DNA replication (GO:0090298)|negative regulation of protein phosphorylation (GO:0001933)|positive regulation of ATP biosynthetic process (GO:2001171)|positive regulation of fat cell proliferation (GO:0070346)|positive regulation of gene expression (GO:0010628)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of G1/S transition of mitotic cell cycle (GO:2000045)|regulation of mitochondrial fusion (GO:0010635)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of reactive oxygen species metabolic process (GO:2000377)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(4)|endometrium(3)|large_intestine(5)|lung(8)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	26		Renal(207;0.0112)|all_lung(227;0.0191)|Lung NSC(271;0.0851)|all_hematologic(139;0.104)|Acute lymphoblastic leukemia(138;0.171)		Epithelial(121;3.08e-11)|all cancers(144;2.28e-08)|LUSC - Lung squamous cell carcinoma(224;0.0145)|Lung(261;0.0189)		GGAATGGCCGGATTTCCAGGA	0.567																																						ENST00000392054.3																			0				breast(4)|endometrium(3)|large_intestine(5)|lung(8)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	26						c.(406-408)atC>atT		phosphotyrosine interaction domain containing 1							94	91	92					2																	229890687		2203	4300	6503	SO:0001819	synonymous_variant	55022					cytoplasm		g.chr2:229890687G>A	AK096636	CCDS2471.1, CCDS42830.1	2q36.3	2007-02-02			ENSG00000153823	ENSG00000153823			26084	protein-coding gene	gene with protein product		612930				17124247, 16815647, 15221005	Standard	NM_001100818		Approved	NYGGF4, FLJ20701	uc002vps.4	Q7Z2X4	OTTHUMG00000133191	ENST00000354069.6:c.414C>T	2.37:g.229890687G>A						PID1_ENST00000409462.1_Silent_p.I56I|PID1_ENST00000392055.3_Silent_p.I105I|PID1_ENST00000482518.2_Intron|PID1_ENST00000354069.6_Silent_p.I138I	p.I136I	NM_017933.4	NP_060403.3	Q7Z2X4	PCLI1_HUMAN		Epithelial(121;3.08e-11)|all cancers(144;2.28e-08)|LUSC - Lung squamous cell carcinoma(224;0.0145)|Lung(261;0.0189)	4	747	-		Renal(207;0.0112)|all_lung(227;0.0191)|Lung NSC(271;0.0851)|all_hematologic(139;0.104)|Acute lymphoblastic leukemia(138;0.171)	138			PID.		B3KU82|Q68CJ2|Q6ZUS3|Q8IXL0|Q9NWP6	Silent	SNP	ENST00000354069.6	37	c.408C>T																																																																																					0.567	PID1-005	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000331810.2	NM_017933		13	21	0	0	0	1	0	13	21					A	229890687	G	A	229890687	2	1	435	1	0	0	0	0	0	0	0	1	11882	1164	41	3		3	PID1	2	229890687	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	4	229890687	13308686	1557	22482	113	2									
PID1	55022	broad.mit.edu	37	chr2	230020593	230020593	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ggtcgtgcacagctcaatggCctccggctcatggaagatga	9	8	13	11	2	2	2	2	1	0	1	4	3	3	3	2	4	2	3	2	4	2	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:230020593C>T	ENST00000354069.6	-	2	247	c.217G>A	c.(217-219)Gcc>Acc	p.A73T	PID1_ENST00000392054.3_Missense_Mutation_p.A71T|PID1_ENST00000482518.2_5'UTR|PID1_ENST00000409462.1_Intron|PID1_ENST00000392055.3_Missense_Mutation_p.A40T			Q7Z2X4	PCLI1_HUMAN	phosphotyrosine interaction domain containing 1	73					cellular response to cytokine stimulus (GO:0071345)|cellular response to fatty acid (GO:0071398)|cellular response to interleukin-6 (GO:0071354)|cellular response to leptin stimulus (GO:0044320)|cellular response to tumor necrosis factor (GO:0071356)|energy reserve metabolic process (GO:0006112)|mitochondrion morphogenesis (GO:0070584)|negative regulation of ATP biosynthetic process (GO:2001170)|negative regulation of establishment of protein localization to plasma membrane (GO:0090005)|negative regulation of glucose import in response to insulin stimulus (GO:2001274)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of mitochondrial DNA replication (GO:0090298)|negative regulation of protein phosphorylation (GO:0001933)|positive regulation of ATP biosynthetic process (GO:2001171)|positive regulation of fat cell proliferation (GO:0070346)|positive regulation of gene expression (GO:0010628)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of G1/S transition of mitotic cell cycle (GO:2000045)|regulation of mitochondrial fusion (GO:0010635)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of reactive oxygen species metabolic process (GO:2000377)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(4)|endometrium(3)|large_intestine(5)|lung(8)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	26		Renal(207;0.0112)|all_lung(227;0.0191)|Lung NSC(271;0.0851)|all_hematologic(139;0.104)|Acute lymphoblastic leukemia(138;0.171)		Epithelial(121;3.08e-11)|all cancers(144;2.28e-08)|LUSC - Lung squamous cell carcinoma(224;0.0145)|Lung(261;0.0189)		AGCTCAATGGCCTCCGGCTCA	0.512																																						ENST00000392054.3																			0				breast(4)|endometrium(3)|large_intestine(5)|lung(8)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	26						c.(211-213)Gcc>Acc		phosphotyrosine interaction domain containing 1							119	113	115					2																	230020593		2203	4300	6503	SO:0001583	missense	55022					cytoplasm		g.chr2:230020593C>T	AK096636	CCDS2471.1, CCDS42830.1	2q36.3	2007-02-02			ENSG00000153823	ENSG00000153823			26084	protein-coding gene	gene with protein product		612930				17124247, 16815647, 15221005	Standard	NM_001100818		Approved	NYGGF4, FLJ20701	uc002vps.4	Q7Z2X4	OTTHUMG00000133191	ENST00000354069.6:c.217G>A	2.37:g.230020593C>T	ENSP00000283937:p.Ala73Thr					PID1_ENST00000409462.1_Intron|PID1_ENST00000392055.3_Missense_Mutation_p.A40T|PID1_ENST00000482518.2_5'UTR|PID1_ENST00000354069.6_Missense_Mutation_p.A73T	p.A71T	NM_017933.4	NP_060403.3	Q7Z2X4	PCLI1_HUMAN		Epithelial(121;3.08e-11)|all cancers(144;2.28e-08)|LUSC - Lung squamous cell carcinoma(224;0.0145)|Lung(261;0.0189)	3	550	-		Renal(207;0.0112)|all_lung(227;0.0191)|Lung NSC(271;0.0851)|all_hematologic(139;0.104)|Acute lymphoblastic leukemia(138;0.171)	73					B3KU82|Q68CJ2|Q6ZUS3|Q8IXL0|Q9NWP6	Missense_Mutation	SNP	ENST00000354069.6	37	c.211G>A		.	.	.	.	.	.	.	.	.	.	C	18.95	3.731295	0.69189	.	.	ENSG00000153823	ENST00000392054;ENST00000392055;ENST00000542363;ENST00000354069	.	.	.	5.74	5.74	0.90152	.	0.265171	0.35179	N	0.003399	T	0.60248	0.2254	L	0.27053	0.805	0.52099	D	0.999949	P;D;P	0.59767	0.59;0.986;0.935	B;P;P	0.55749	0.405;0.783;0.494	T	0.55016	-0.8206	8	.	.	.	-27.5217	19.2859	0.94069	0.0:1.0:0.0:0.0	.	40;71;73	Q7Z2X4-4;Q7Z2X4-2;Q7Z2X4	.;.;PCLI1_HUMAN	T	71;40;73;73	.	.	A	-	1	0	PID1	229728837	1.000000	0.71417	1.000000	0.80357	0.620000	0.37586	7.353000	0.79414	2.873000	0.98535	0.563000	0.77884	GCC		0.512	PID1-005	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000331810.2	NM_017933		11	45	0	0	0	1	0	11	45					T	230020593	C	T	230020593	3	4	435	1	0	0	0	0	1	0	0	0	11882	739	26	3	543	3	PID1	2	230020593	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	129906	230020593	13178780	1558	22483											
DNER	92737	broad.mit.edu	37	chr2	230456385	230456385	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgttgcctgagagcgaggcaGgattttgtcaggctcctgag	7	10	15	9	2	1	2	1	2	0	1	2	5	2	3	2	3	2	3	2	3	0	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:230456385G>T	ENST00000341772.4	-	2	630	c.496C>A	c.(496-498)Ctg>Atg	p.L166M		NM_139072.3	NP_620711.3	Q8NFT8	DNER_HUMAN	delta/notch-like EGF repeat containing	166					central nervous system development (GO:0007417)|endocytosis (GO:0006897)|glial cell differentiation (GO:0010001)|neuron migration (GO:0001764)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|skeletal muscle fiber development (GO:0048741)|synapse assembly (GO:0007416)	dendrite (GO:0030425)|early endosome (GO:0005769)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|clathrin binding (GO:0030276)|transmembrane signaling receptor activity (GO:0004888)			NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	63		all_lung(227;0.00413)|Renal(207;0.0113)|Lung NSC(271;0.0211)|all_hematologic(139;0.105)|Acute lymphoblastic leukemia(138;0.175)		Epithelial(121;1.4e-11)|all cancers(144;7.7e-09)|LUSC - Lung squamous cell carcinoma(224;0.034)|Lung(119;0.0375)		GAGCGAGGCAGGATTTTGTCA	0.552																																						ENST00000341772.4																			0				NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	63						c.(496-498)Ctg>Atg		delta/notch-like EGF repeat containing							91	80	84					2																	230456385		2203	4300	6503	SO:0001583	missense	92737				central nervous system development|endocytosis|neuron migration|Notch signaling pathway|synapse assembly	dendrite|early endosome|integral to membrane|plasma membrane	calcium ion binding|clathrin binding|transmembrane receptor activity	g.chr2:230456385G>T	AY358891	CCDS33390.1	2q36.3	2006-10-26			ENSG00000187957	ENSG00000187957			24456	protein-coding gene	gene with protein product		607299				11950833, 11997712	Standard	NM_139072		Approved	UNQ26, bet	uc002vpv.3	Q8NFT8	OTTHUMG00000153637	ENST00000341772.4:c.496C>A	2.37:g.230456385G>T	ENSP00000345229:p.Leu166Met						p.L166M	NM_139072.3	NP_620711.3	Q8NFT8	DNER_HUMAN		Epithelial(121;1.4e-11)|all cancers(144;7.7e-09)|LUSC - Lung squamous cell carcinoma(224;0.034)|Lung(119;0.0375)	2	630	-		all_lung(227;0.00413)|Renal(207;0.0113)|Lung NSC(271;0.0211)|all_hematologic(139;0.105)|Acute lymphoblastic leukemia(138;0.175)	166					A6NP39|Q53R88|Q53TP7|Q53TQ5|Q8IYT0|Q8TB42|Q9NTF1|Q9UDM2	Missense_Mutation	SNP	ENST00000341772.4	37	c.496C>A	CCDS33390.1	.	.	.	.	.	.	.	.	.	.	G	12.06	1.824737	0.32237	.	.	ENSG00000187957	ENST00000341772	D	0.86432	-2.12	5.69	1.65	0.23941	.	0.765712	0.12162	N	0.493870	T	0.78559	0.4302	N	0.24115	0.695	0.09310	N	1	P	0.43169	0.8	B	0.41723	0.365	T	0.67833	-0.5568	10	0.51188	T	0.08	.	8.6474	0.34013	0.1153:0.3569:0.5278:0.0	.	166	Q8NFT8	DNER_HUMAN	M	166	ENSP00000345229:L166M	ENSP00000345229:L166M	L	-	1	2	DNER	230164629	0.076000	0.21285	0.003000	0.11579	0.116000	0.19942	0.767000	0.26575	0.671000	0.31185	0.655000	0.94253	CTG		0.552	DNER-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331902.1	NM_139072		10	18	1	0	1.58986e-06	1	1.65464e-06	10	18					T	230456385	G	T	230456385	3	4	435	1	0	0	0	0	1	0	0	0	4667	991	35	5	1765	5	DNER	2	230456385	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	435792	230456385	12742988	1559	22484											
TRIP12	9320	broad.mit.edu	37	chr2	230705619	230705619	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cagcaggtggagactcactgCgtttcttcgtagattttctt	7	15	10	9	2	3	2	1	0	2	2	4	3	3	2	0	2	2	3	0	2	1	6			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:230705619C>T	ENST00000283943.5	-	4	1104	c.926G>A	c.(925-927)cGc>cAc	p.R309H	TRIP12_ENST00000543084.1_Intron|TRIP12_ENST00000409677.1_Missense_Mutation_p.R351H|TRIP12_ENST00000389044.4_Missense_Mutation_p.R351H|TRIP12_ENST00000389045.3_Intron	NM_001284214.1|NM_004238.1	NP_001271143.1|NP_004229.1	Q14669	TRIPC_HUMAN	thyroid hormone receptor interactor 12	309					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|embryo development (GO:0009790)|negative regulation of double-strand break repair (GO:2000780)|negative regulation of histone H2A K63-linked ubiquitination (GO:1901315)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligase activity (GO:0016874)|thyroid hormone receptor binding (GO:0046966)|ubiquitin-protein transferase activity (GO:0004842)			breast(2)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(19)|lung(32)|ovary(5)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)		AGACTCACTGCGTTTCTTCGT	0.378																																						ENST00000283943.5																			0				breast(2)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(19)|lung(32)|ovary(5)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						c.(925-927)cGc>cAc		thyroid hormone receptor interactor 12							42	43	42					2																	230705619		2203	4300	6503	SO:0001583	missense	9320				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	proteasome complex	thyroid hormone receptor binding|ubiquitin-protein ligase activity	g.chr2:230705619C>T	L40383	CCDS33391.1, CCDS63145.1, CCDS63146.1	2q36.3	2008-05-27			ENSG00000153827	ENSG00000153827			12306	protein-coding gene	gene with protein product		604506				7776974	Standard	XM_005246961		Approved	KIAA0045	uc002vpw.1	Q14669	OTTHUMG00000153623	ENST00000283943.5:c.926G>A	2.37:g.230705619C>T	ENSP00000283943:p.Arg309His					TRIP12_ENST00000409677.1_Missense_Mutation_p.R351H|TRIP12_ENST00000389045.3_Intron|TRIP12_ENST00000389044.4_Missense_Mutation_p.R351H|TRIP12_ENST00000543084.1_Intron	p.R309H	NM_004238.1	NP_004229.1	Q14669	TRIPC_HUMAN		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)	4	1104	-		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)	309					D4HL82|Q14CA3|Q14CF1|Q15644|Q53R87|Q53TE7	Missense_Mutation	SNP	ENST00000283943.5	37	c.926G>A	CCDS33391.1	.	.	.	.	.	.	.	.	.	.	C	32	5.122190	0.94429	.	.	ENSG00000153827	ENST00000283943;ENST00000389044;ENST00000409677;ENST00000453485	T;T	0.48522	0.83;0.81	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	T	0.59169	0.2174	L	0.27053	0.805	0.80722	D	1	D;D;D	0.71674	0.998;0.998;0.998	D;D;D	0.72075	0.976;0.976;0.976	T	0.59705	-0.7404	10	0.56958	D	0.05	.	20.27	0.98469	0.0:1.0:0.0:0.0	.	309;351;309	D4HL82;Q14CA3;Q14669	.;.;TRIPC_HUMAN	H	309;351;351;150	ENSP00000283943:R309H;ENSP00000373696:R351H	ENSP00000283943:R309H	R	-	2	0	TRIP12	230413863	1.000000	0.71417	1.000000	0.80357	0.811000	0.45836	7.363000	0.79516	2.854000	0.98071	0.655000	0.94253	CGC		0.378	TRIP12-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000331861.3	NM_004238		13	16	0	0	0	1	0	13	16					T	230705619	C	T	230705619	3	4	435	1	0	0	0	0	1	0	0	0	16553	768	27	1	5204	1	TRIP12	2	230705619	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	249234	230705619	12493754	1560	22485											
FBXO36	130888	broad.mit.edu	37	chr2	230861622	230861622	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgccaggctttgtcaaacaTcacacagatttgcaaaggta	13	11	8	9	0	2	1	2	0	0	1	2	1	2	1	1	2	3	3	1	2	3	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:230861622T>G	ENST00000283946.3	+	3	379	c.361T>G	c.(361-363)Tca>Gca	p.S121A	FBXO36_ENST00000409992.1_Missense_Mutation_p.S101A|FBXO36_ENST00000373652.3_Missense_Mutation_p.S90A	NM_174899.4	NP_777559.3	Q8NEA4	FBX36_HUMAN	F-box protein 36	121	F-box. {ECO:0000255|PROSITE- ProRule:PRU00080}.									endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(1)	7		Renal(207;0.0112)|all_lung(227;0.0179)|Lung NSC(271;0.0804)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;7.56e-14)|all cancers(144;7.74e-11)|Lung(119;0.00488)|LUSC - Lung squamous cell carcinoma(224;0.008)		TTGTCAAACATCACACAGATT	0.333																																						ENST00000373652.3																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(1)	7						c.(268-270)Tca>Gca		F-box protein 36							154	150	151					2																	230861622		2203	4300	6503	SO:0001583	missense	130888							g.chr2:230861622T>G	BC033935	CCDS2472.1	2q37.1	2008-02-05	2004-06-15		ENSG00000153832	ENSG00000153832		"F-boxes /  "other""	27020	protein-coding gene	gene with protein product		609105	"F-box only protein 36"			12477932	Standard	NM_174899		Approved	Fbx36, FLJ37592	uc002vqa.3	Q8NEA4	OTTHUMG00000133206	ENST00000283946.3:c.361T>G	2.37:g.230861622T>G	ENSP00000283946:p.Ser121Ala					FBXO36_ENST00000409992.1_Missense_Mutation_p.S101A|FBXO36_ENST00000283946.3_Missense_Mutation_p.S121A	p.S90A			Q8NEA4	FBX36_HUMAN		Epithelial(121;7.56e-14)|all cancers(144;7.74e-11)|Lung(119;0.00488)|LUSC - Lung squamous cell carcinoma(224;0.008)	4	689	+		Renal(207;0.0112)|all_lung(227;0.0179)|Lung NSC(271;0.0804)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167)	121					B3KVQ6|Q53TE6|Q8WWD4	Missense_Mutation	SNP	ENST00000283946.3	37	c.268T>G	CCDS2472.1	.	.	.	.	.	.	.	.	.	.	T	16.80	3.222069	0.58560	.	.	ENSG00000153832	ENST00000373652;ENST00000283946;ENST00000409992	T;T;T	0.36699	1.24;1.24;1.24	5.37	5.37	0.77165	F-box domain, cyclin-like (3);F-box domain, Skp2-like (1);	0.082405	0.49916	D	0.000127	T	0.64034	0.2562	M	0.88450	2.955	0.38569	D	0.949892	D;D	0.63046	0.992;0.992	D;D	0.79108	0.992;0.992	T	0.68887	-0.5290	10	0.25751	T	0.34	-12.3498	14.3574	0.66748	0.0:0.0:0.0:1.0	.	90;121	B3KVQ6;Q8NEA4	.;FBX36_HUMAN	A	90;121;101	ENSP00000362756:S90A;ENSP00000283946:S121A;ENSP00000386673:S101A	ENSP00000283946:S121A	S	+	1	0	FBXO36	230569866	0.998000	0.40836	0.882000	0.34594	0.892000	0.51952	4.189000	0.58358	2.038000	0.60285	0.459000	0.35465	TCA		0.333	FBXO36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256919.2	NM_174899		16	108	0	0	0	1	0	16	108					G	230861622	T	G	230861622	3	3	435	1	0	0	0	0	1	0	0	0	5745	1435	50	5	371	5	FBXO36	2	230861622	Missense_Mutation	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	156003	230861622	12337751	1561	22486											
SLC16A14	151473	broad.mit.edu	37	chr2	230910581	230910581	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tacgggcattagggagaaatAaccactggaaaaccctatca	16	7	9	9	1	1	1	1	0	0	1	1	3	1	2	2	3	3	1	2	3	7	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:230910581A>G	ENST00000295190.4	-	4	1719	c.1261T>C	c.(1261-1263)Tat>Cat	p.Y421H		NM_152527.4	NP_689740.2	Q7RTX9	MOT14_HUMAN	solute carrier family 16, member 14	421						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	symporter activity (GO:0015293)			NS(1)|cervix(1)|endometrium(7)|large_intestine(7)|lung(3)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.149)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;7.31e-13)|all cancers(144;5.1e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00948)		AGGGAGAAATAACCACTGGAA	0.502																																						ENST00000295190.4																			0				NS(1)|cervix(1)|endometrium(7)|large_intestine(7)|lung(3)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						c.(1261-1263)Tat>Cat		solute carrier family 16, member 14							82	76	78					2																	230910581		2203	4300	6503	SO:0001583	missense	151473					integral to membrane|plasma membrane	symporter activity	g.chr2:230910581A>G	BN000146	CCDS2473.1	2q37.1	2013-07-18	2013-07-18		ENSG00000163053	ENSG00000163053		"Solute carriers"	26417	protein-coding gene	gene with protein product	"monocarboxylic acid transporter 14"		"solute carrier family 16 (monocarboxylic acid transporters), member 14"				Standard	NM_152527		Approved	FLJ30794, MCT14	uc002vqd.2	Q7RTX9	OTTHUMG00000133205	ENST00000295190.4:c.1261T>C	2.37:g.230910581A>G	ENSP00000295190:p.Tyr421His						p.Y421H	NM_152527.4	NP_689740.2	Q7RTX9	MOT14_HUMAN		Epithelial(121;7.31e-13)|all cancers(144;5.1e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00948)	4	1719	-		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.149)|Acute lymphoblastic leukemia(138;0.164)	421					A8KA08|Q53R92|Q96NI7	Missense_Mutation	SNP	ENST00000295190.4	37	c.1261T>C	CCDS2473.1	.	.	.	.	.	.	.	.	.	.	A	15.83	2.947688	0.53186	.	.	ENSG00000163053	ENST00000295190;ENST00000457406;ENST00000412034	T;T;T	0.58060	0.37;0.36;0.36	4.82	4.82	0.62117	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.53938	D	0.000046	T	0.64046	0.2563	L	0.49126	1.545	0.46458	D	0.999058	D;D	0.71674	0.998;0.998	D;D	0.75484	0.986;0.981	T	0.58951	-0.7545	10	0.17369	T	0.5	.	14.5447	0.68020	1.0:0.0:0.0:0.0	.	421;421	E7EMG7;Q7RTX9	.;MOT14_HUMAN	H	421	ENSP00000295190:Y421H;ENSP00000400352:Y421H;ENSP00000395775:Y421H	ENSP00000295190:Y421H	Y	-	1	0	SLC16A14	230618825	1.000000	0.71417	0.680000	0.29994	0.915000	0.54546	4.559000	0.60796	2.022000	0.59522	0.379000	0.24179	TAT		0.502	SLC16A14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256918.2	NM_152527		16	21	0	0	0	1	0	16	21					G	230910581	A	G	230910581	3	3	435	1	0	0	0	0	1	0	0	0	14407	362	13	4	279	4	SLC16A14	2	230910581	Missense_Mutation	SNP	A	TCGA-XK-AAIW-01A-11D-A41K-08	48959	230910581	12288792	1562	22487											
SLC16A14	151473	broad.mit.edu	37	chr2	230911012	230911012	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcagaatccggagggcacacAtgttcttcctgtgcccggcc	7	9	11	14	2	2	1	1	0	1	1	4	2	4	2	4	3	1	2	4	3	1	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:230911012A>G	ENST00000295190.4	-	4	1288	c.830T>C	c.(829-831)aTg>aCg	p.M277T		NM_152527.4	NP_689740.2	Q7RTX9	MOT14_HUMAN	solute carrier family 16, member 14	277						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	symporter activity (GO:0015293)			NS(1)|cervix(1)|endometrium(7)|large_intestine(7)|lung(3)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.149)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;7.31e-13)|all cancers(144;5.1e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00948)		GAGGGCACACATGTTCTTCCT	0.587																																						ENST00000295190.4																			0				NS(1)|cervix(1)|endometrium(7)|large_intestine(7)|lung(3)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						c.(829-831)aTg>aCg		solute carrier family 16, member 14							80	81	81					2																	230911012		2203	4300	6503	SO:0001583	missense	151473					integral to membrane|plasma membrane	symporter activity	g.chr2:230911012A>G	BN000146	CCDS2473.1	2q37.1	2013-07-18	2013-07-18		ENSG00000163053	ENSG00000163053		"Solute carriers"	26417	protein-coding gene	gene with protein product	"monocarboxylic acid transporter 14"		"solute carrier family 16 (monocarboxylic acid transporters), member 14"				Standard	NM_152527		Approved	FLJ30794, MCT14	uc002vqd.2	Q7RTX9	OTTHUMG00000133205	ENST00000295190.4:c.830T>C	2.37:g.230911012A>G	ENSP00000295190:p.Met277Thr						p.M277T	NM_152527.4	NP_689740.2	Q7RTX9	MOT14_HUMAN		Epithelial(121;7.31e-13)|all cancers(144;5.1e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00948)	4	1288	-		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.149)|Acute lymphoblastic leukemia(138;0.164)	277					A8KA08|Q53R92|Q96NI7	Missense_Mutation	SNP	ENST00000295190.4	37	c.830T>C	CCDS2473.1	.	.	.	.	.	.	.	.	.	.	A	0.011	-1.740930	0.00675	.	.	ENSG00000163053	ENST00000295190;ENST00000457406;ENST00000412034	T;T;T	0.08102	3.13;3.13;3.13	4.7	-0.357	0.12579	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	2.703700	0.00741	N	0.001003	T	0.09423	0.0232	L	0.47716	1.5	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.12837	0.008;0.004	T	0.40534	-0.9558	10	0.14656	T	0.56	.	8.4624	0.32936	0.6659:0.0:0.3341:0.0	.	277;277	E7EMG7;Q7RTX9	.;MOT14_HUMAN	T	277	ENSP00000295190:M277T;ENSP00000400352:M277T;ENSP00000395775:M277T	ENSP00000295190:M277T	M	-	2	0	SLC16A14	230619256	0.000000	0.05858	0.000000	0.03702	0.119000	0.20118	0.455000	0.21843	-0.212000	0.10109	0.459000	0.35465	ATG		0.587	SLC16A14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256918.2	NM_152527		17	54	0	0	0	1	0	17	54					G	230911012	A	G	230911012	3	3	435	1	0	0	0	0	1	0	0	0	14407	217	8	4	710	4	SLC16A14	2	230911012	Missense_Mutation	SNP	A	TCGA-XK-AAIW-01A-11D-A41K-08	431	230911012	12288361	1563	22488											
SP110	3431	broad.mit.edu	37	chr2	231050721	231050721	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tagccttacctttcaatctgGactttcgggcacatttagtt	8	16	7	10	1	2	0	1	0	1	0	3	1	2	1	2	2	2	2	2	2	4	7	rs556856317		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:231050721G>A	ENST00000358662.4	-	11	1346	c.1268C>T	c.(1267-1269)tCc>tTc	p.S423F	SP110_ENST00000392048.3_Missense_Mutation_p.S421F|SP110_ENST00000338556.3_Missense_Mutation_p.S125F|SP110_ENST00000258382.5_Missense_Mutation_p.S423F|SP110_ENST00000540870.1_Missense_Mutation_p.S429F|SP110_ENST00000258381.6_Missense_Mutation_p.S423F	NM_004509.3	NP_004500	Q9HB58	SP110_HUMAN	SP110 nuclear body protein	423					regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|signal transducer activity (GO:0004871)|zinc ion binding (GO:0008270)			breast(4)|endometrium(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Renal(207;0.0112)|all_lung(227;0.0223)|Lung NSC(271;0.0983)|all_hematologic(139;0.104)|Acute lymphoblastic leukemia(138;0.169)		Epithelial(121;2.61e-12)|all cancers(144;6.39e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.0097)		TTTCAATCTGGACTTTCGGGC	0.448																																						ENST00000258381.6																			0				breast(4)|endometrium(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(1267-1269)tCc>tTc		SP110 nuclear body protein							225	196	206					2																	231050721		2203	4300	6503	SO:0001583	missense	3431				interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|signal transducer activity|zinc ion binding	g.chr2:231050721G>A	L22343	CCDS2474.1, CCDS2475.1, CCDS2476.1, CCDS54435.1	2q37.1	2014-09-17	2001-12-19	2001-12-20	ENSG00000135899	ENSG00000135899			5401	protein-coding gene	gene with protein product		604457	"interferon-induced protein 41, 30kD"	IFI41, IFI75		7693701, 10388521	Standard	NM_080424		Approved		uc002vqg.3	Q9HB58	OTTHUMG00000133204	ENST00000358662.4:c.1268C>T	2.37:g.231050721G>A	ENSP00000351488:p.Ser423Phe					SP110_ENST00000392048.3_Missense_Mutation_p.S421F|SP110_ENST00000338556.3_Missense_Mutation_p.S125F|SP110_ENST00000540870.1_Missense_Mutation_p.S429F|SP110_ENST00000358662.4_Missense_Mutation_p.S423F|SP110_ENST00000258382.5_Missense_Mutation_p.S423F	p.S423F	NM_080424.2	NP_536349.2	Q9HB58	SP110_HUMAN		Epithelial(121;2.61e-12)|all cancers(144;6.39e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.0097)	11	1345	-		Renal(207;0.0112)|all_lung(227;0.0223)|Lung NSC(271;0.0983)|all_hematologic(139;0.104)|Acute lymphoblastic leukemia(138;0.169)	423					B4DVI4|F5H1M1|Q14976|Q14977|Q53TG2|Q8WUZ6|Q9HCT8	Missense_Mutation	SNP	ENST00000358662.4	37	c.1268C>T	CCDS2474.1	.	.	.	.	.	.	.	.	.	.	G	11.45	1.641828	0.29157	.	.	ENSG00000135899	ENST00000258381;ENST00000358662;ENST00000392048;ENST00000258382;ENST00000540870;ENST00000338556	T;T;T;T;T;T	0.74106	0.52;0.36;-0.81;-0.78;-0.76;1.91	2.46	1.57	0.23409	.	0.617002	0.12642	N	0.451230	T	0.76615	0.4012	L	0.42245	1.32	0.09310	N	1	P;P;P;P;P	0.50528	0.782;0.936;0.782;0.879;0.926	D;P;D;B;P	0.63703	0.917;0.474;0.917;0.35;0.552	T	0.62996	-0.6735	10	0.87932	D	0	.	5.1526	0.15017	0.1739:0.0:0.8261:0.0	.	421;125;429;423;423	G5E9C0;E7ER70;F5H1M1;Q9HB58;Q9HB58-6	.;.;.;SP110_HUMAN;.	F	423;423;421;423;429;125	ENSP00000258381:S423F;ENSP00000351488:S423F;ENSP00000375902:S421F;ENSP00000258382:S423F;ENSP00000439558:S429F;ENSP00000344049:S125F	ENSP00000258381:S423F	S	-	2	0	SP110	230758965	0.015000	0.18098	0.001000	0.08648	0.019000	0.09904	2.088000	0.41663	0.591000	0.29711	0.305000	0.20034	TCC		0.448	SP110-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000332414.1	NM_080424		53	81	0	0	0	1	0	53	81					A	231050721	G	A	231050721	3	1	435	1	0	0	0	0	1	0	0	0	14961	1174	41	3	973	3	SP110	2	231050721	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	139709	231050721	12148652	1564	22489											
SP110	3431	broad.mit.edu	37	chr2	231076266	231076266	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ggggatcaggttgtcactggCcactgaatggaggaagaaaa	13	7	15	6	0	2	2	2	1	0	1	2	5	2	5	1	6	0	1	1	6	4	1	rs200816727		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:231076266C>T	ENST00000358662.4	-	6	748	c.670G>A	c.(670-672)Gcc>Acc	p.A224T	SP110_ENST00000392048.3_Missense_Mutation_p.A224T|SP110_ENST00000338556.3_5'UTR|SP110_ENST00000486146.2_5'UTR|SP110_ENST00000258382.5_Missense_Mutation_p.A224T|SP110_ENST00000540870.1_Missense_Mutation_p.A230T|SP110_ENST00000258381.6_Missense_Mutation_p.A224T	NM_004509.3	NP_004500	Q9HB58	SP110_HUMAN	SP110 nuclear body protein	224					regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|signal transducer activity (GO:0004871)|zinc ion binding (GO:0008270)			breast(4)|endometrium(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Renal(207;0.0112)|all_lung(227;0.0223)|Lung NSC(271;0.0983)|all_hematologic(139;0.104)|Acute lymphoblastic leukemia(138;0.169)		Epithelial(121;2.61e-12)|all cancers(144;6.39e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.0097)		TTGTCACTGGCCACTGAATGG	0.448																																						ENST00000258381.6																			0				breast(4)|endometrium(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(670-672)Gcc>Acc		SP110 nuclear body protein		C	THR/ALA,THR/ALA,THR/ALA,THR/ALA	0,4406		0,0,2203	96	99	98		670,670,670,688	-2.7	0	2		98	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense	SP110	NM_080424.2,NM_004510.3,NM_004509.3,NM_001185015.1	58,58,58,58	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign,benign,benign,benign	224/714,224/550,224/690,230/556	231076266	1,13005	2203	4300	6503	SO:0001583	missense	3431				interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|signal transducer activity|zinc ion binding	g.chr2:231076266C>T	L22343	CCDS2474.1, CCDS2475.1, CCDS2476.1, CCDS54435.1	2q37.1	2014-09-17	2001-12-19	2001-12-20	ENSG00000135899	ENSG00000135899			5401	protein-coding gene	gene with protein product		604457	"interferon-induced protein 41, 30kD"	IFI41, IFI75		7693701, 10388521	Standard	NM_080424		Approved		uc002vqg.3	Q9HB58	OTTHUMG00000133204	ENST00000358662.4:c.670G>A	2.37:g.231076266C>T	ENSP00000351488:p.Ala224Thr					SP110_ENST00000392048.3_Missense_Mutation_p.A224T|SP110_ENST00000338556.3_5'UTR|SP110_ENST00000486146.2_5'UTR|SP110_ENST00000540870.1_Missense_Mutation_p.A230T|SP110_ENST00000358662.4_Missense_Mutation_p.A224T|SP110_ENST00000258382.5_Missense_Mutation_p.A224T	p.A224T	NM_080424.2	NP_536349.2	Q9HB58	SP110_HUMAN		Epithelial(121;2.61e-12)|all cancers(144;6.39e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.0097)	6	747	-		Renal(207;0.0112)|all_lung(227;0.0223)|Lung NSC(271;0.0983)|all_hematologic(139;0.104)|Acute lymphoblastic leukemia(138;0.169)	224					B4DVI4|F5H1M1|Q14976|Q14977|Q53TG2|Q8WUZ6|Q9HCT8	Missense_Mutation	SNP	ENST00000358662.4	37	c.670G>A	CCDS2474.1	.	.	.	.	.	.	.	.	.	.	C	11.88	1.769968	0.31320	0.0	1.16E-4	ENSG00000135899	ENST00000258381;ENST00000358662;ENST00000392048;ENST00000258382;ENST00000540870	T;T;T;T;T	0.09255	3.0;3.0;3.0;3.0;3.0	2.65	-2.71	0.05986	.	.	.	.	.	T	0.05090	0.0136	N	0.22421	0.69	0.22866	N	0.998633	B;B;B;B	0.19331	0.025;0.025;0.035;0.025	B;B;B;B	0.17098	0.006;0.006;0.017;0.006	T	0.45833	-0.9234	9	0.11794	T	0.64	.	3.6114	0.08062	0.2963:0.2023:0.0:0.5014	.	224;230;224;224	G5E9C0;F5H1M1;Q9HB58;Q9HB58-6	.;.;SP110_HUMAN;.	T	224;224;224;224;230	ENSP00000258381:A224T;ENSP00000351488:A224T;ENSP00000375902:A224T;ENSP00000258382:A224T;ENSP00000439558:A230T	ENSP00000258381:A224T	A	-	1	0	SP110	230784510	0.000000	0.05858	0.000000	0.03702	0.207000	0.24258	-0.242000	0.08928	-0.588000	0.05882	-0.457000	0.05445	GCC		0.448	SP110-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000332414.1	NM_080424		17	28	0	0	0	1	0	17	28					T	231076266	C	T	231076266	3	4	435	1	0	0	0	0	1	0	0	0	14961	739	26	3	1591	3	SP110	2	231076266	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	25545	231076266	12123107	1565	22490											
SP140L	93349	broad.mit.edu	37	chr2	231264929	231264929	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caagagtcttccatgaggacTgccacatcccacctgtggaa	11	8	9	13	0	1	2	0	1	1	1	3	4	3	4	4	2	1	0	4	2	2	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:231264929T>C	ENST00000415673.2	+	15	1371	c.1285T>C	c.(1285-1287)Tgc>Cgc	p.C429R	SP140L_ENST00000396563.4_Missense_Mutation_p.C394R|SP140L_ENST00000243810.6_Missense_Mutation_p.C429R|SP140L_ENST00000444636.1_Missense_Mutation_p.C429R	NM_138402.4	NP_612411.4	Q9H930	SP14L_HUMAN	SP140 nuclear body protein-like	429						nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(7)|prostate(1)|skin(1)	20						CCATGAGGACTGCCACATCCC	0.517																																						ENST00000243810.6																			0				central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(7)|prostate(1)|skin(1)	20						c.(1285-1287)Tgc>Cgc		SP140 nuclear body protein-like							140	146	144					2																	231264929		2098	4242	6340	SO:0001583	missense	93349					nucleus	DNA binding|metal ion binding	g.chr2:231264929T>C	BC004921	CCDS46538.1	2q37.1	2013-01-28			ENSG00000185404	ENSG00000185404		"Zinc fingers, PHD-type"	25105	protein-coding gene	gene with protein product						12477932	Standard	NM_138402		Approved		uc010fxm.1	Q9H930	OTTHUMG00000153730	ENST00000415673.2:c.1285T>C	2.37:g.231264929T>C	ENSP00000397911:p.Cys429Arg					SP140L_ENST00000415673.2_Missense_Mutation_p.C429R|SP140L_ENST00000396563.4_Missense_Mutation_p.C394R|SP140L_ENST00000444636.1_Missense_Mutation_p.C429R	p.C429R			Q9H930	LY10L_HUMAN			15	1285	+			429					Q2M375|Q4ZG65|Q9BSP3	Missense_Mutation	SNP	ENST00000415673.2	37	c.1285T>C	CCDS46538.1	.	.	.	.	.	.	.	.	.	.	T	9.731	1.162386	0.21538	.	.	ENSG00000185404	ENST00000444636;ENST00000415673;ENST00000243810;ENST00000396563	D;D;D;D	0.99930	-8.15;-8.15;-8.15;-8.15	3.33	3.33	0.38152	.	.	.	.	.	D	0.99928	0.9967	H	0.96430	3.82	0.39665	D	0.970661	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.96291	0.9214	9	0.87932	D	0	.	8.2875	0.31937	0.0:0.0:0.0:1.0	.	394;429	Q9H930-2;Q9H930-4	.;.	R	429;429;429;394	ENSP00000395195:C429R;ENSP00000397911:C429R;ENSP00000243810:C429R;ENSP00000379811:C394R	ENSP00000243810:C429R	C	+	1	0	SP140L	230973173	0.965000	0.33210	0.085000	0.20634	0.028000	0.11728	3.571000	0.53841	1.518000	0.48934	0.260000	0.18958	TGC		0.517	SP140L-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374538.1	NM_138402		13	17	0	0	0	1	0	13	17					C	231264929	T	C	231264929	3	2	435	1	0	0	0	0	1	0	0	0	14963	1580	55	4	1343	4	SP140L	2	231264929	Missense_Mutation	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	188663	231264929	11934444	1566	22491											
GPR55	9290	broad.mit.edu	37	chr2	231775353	231775353	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgaagcagatggtgaagaCgcttccgtacatgctgacga	12	8	13	8	3	0	5	0	3	0	2	1	7	1	5	1	1	3	4	1	1	3	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:231775353C>T	ENST00000392040.1	-	2	517	c.325G>A	c.(325-327)Gtc>Atc	p.V109I	AC012507.4_ENST00000454890.1_RNA|GPR55_ENST00000392039.2_Missense_Mutation_p.V109I	NM_005683.3	NP_005674.2	Q9Y2T6	GPR55_HUMAN	G protein-coupled receptor 55	109					activation of phospholipase C activity (GO:0007202)|bone resorption (GO:0045453)|cannabinoid signaling pathway (GO:0038171)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of osteoclast differentiation (GO:0045671)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of Rho protein signal transduction (GO:0035025)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cannabinoid receptor activity (GO:0004949)|G-protein coupled receptor activity (GO:0004930)	p.V109L(1)		endometrium(1)|large_intestine(1)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Renal(207;0.0112)|all_lung(227;0.0741)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167)|Lung NSC(271;0.204)		Epithelial(121;1.04e-11)|all cancers(144;4.22e-09)|LUSC - Lung squamous cell carcinoma(224;0.0119)|Lung(119;0.0145)		ATGGTGAAGACGCTTCCGTAC	0.582																																						ENST00000392040.1																			1	Substitution - Missense(1)	p.V109L(1)	large_intestine(1)	endometrium(1)|large_intestine(1)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						c.(325-327)Gtc>Atc		G protein-coupled receptor 55							68	45	53					2																	231775353		2203	4300	6503	SO:0001583	missense	9290				activation of phospholipase C activity|bone resorption|negative regulation of osteoclast differentiation|positive regulation of ERK1 and ERK2 cascade|positive regulation of Rho protein signal transduction	integral to plasma membrane	cannabinoid receptor activity	g.chr2:231775353C>T	AF096786	CCDS2480.1	2q37	2012-08-21			ENSG00000135898	ENSG00000135898		"GPCR / Class A : Orphans"	4511	protein-coding gene	gene with protein product		604107				9931487	Standard	NM_005683		Approved		uc002vrg.3	Q9Y2T6	OTTHUMG00000133224	ENST00000392040.1:c.325G>A	2.37:g.231775353C>T	ENSP00000375894:p.Val109Ile					GPR55_ENST00000392039.2_Missense_Mutation_p.V109I	p.V109I	NM_005683.3	NP_005674.2	Q9Y2T6	GPR55_HUMAN		Epithelial(121;1.04e-11)|all cancers(144;4.22e-09)|LUSC - Lung squamous cell carcinoma(224;0.0119)|Lung(119;0.0145)	2	517	-		Renal(207;0.0112)|all_lung(227;0.0741)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167)|Lung NSC(271;0.204)	109					Q8N580	Missense_Mutation	SNP	ENST00000392040.1	37	c.325G>A	CCDS2480.1	.	.	.	.	.	.	.	.	.	.	C	2.028	-0.422998	0.04734	.	.	ENSG00000135898	ENST00000392040;ENST00000392039;ENST00000438398	T;T;T	0.69561	-0.41;-0.41;-0.41	5.38	0.155	0.14906	GPCR, rhodopsin-like superfamily (1);	0.176917	0.47455	N	0.000226	T	0.33760	0.0874	N	0.04260	-0.245	0.27475	N	0.952759	B	0.18166	0.026	B	0.14023	0.01	T	0.34279	-0.9835	10	0.02654	T	1	-29.0992	9.1034	0.36683	0.0:0.4769:0.0:0.5231	.	109	Q9Y2T6	GPR55_HUMAN	I	109	ENSP00000375894:V109I;ENSP00000375893:V109I;ENSP00000412768:V109I	ENSP00000375893:V109I	V	-	1	0	GPR55	231483597	0.037000	0.19845	0.090000	0.20809	0.869000	0.49853	0.290000	0.18975	-0.257000	0.09459	-0.136000	0.14681	GTC		0.582	GPR55-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332618.1	NM_005683		9	10	0	0	0	1	0	9	10					T	231775353	C	T	231775353	3	4	435	1	0	0	0	0	1	0	0	0	6699	536	19	1	638	1	GPR55	2	231775353	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	510424	231775353	11424020	1567	22492											
PSMD1	5707	broad.mit.edu	37	chr2	231943409	231943409	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgtatgtcatactgcaaccGttatagcaaactcttttatg	11	15	6	9	1	2	0	1	0	1	0	2	0	2	0	1	0	5	4	1	0	7	6			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:231943409G>A	ENST00000308696.6	+	10	1270	c.1108G>A	c.(1108-1110)Gtt>Att	p.V370I	PSMD1_ENST00000409643.1_Missense_Mutation_p.V370I|PSMD1_ENST00000373635.4_Missense_Mutation_p.V370I	NM_002807.3	NP_002798.2	Q99460	PSMD1_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 1	370					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of protein catabolic process (GO:0042176)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)|proteasome regulatory particle (GO:0005838)	enzyme regulator activity (GO:0030234)			breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)	31		Ovarian(221;0.000626)|Medulloblastoma(418;0.0109)|Renal(207;0.0112)|Lung NSC(271;0.0538)|all_lung(227;0.0713)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;4e-26)|LUSC - Lung squamous cell carcinoma(224;0.0138)|Lung(119;0.0168)	Bortezomib(DB00188)	TACTGCAACCGTTATAGCAAA	0.368																																						ENST00000308696.6																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)	31						c.(1108-1110)Gtt>Att		proteasome (prosome, macropain) 26S subunit, non-ATPase, 1	Bortezomib(DB00188)						128	121	124					2																	231943409		2203	4300	6503	SO:0001583	missense	5707				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of protein catabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome regulatory particle	enzyme regulator activity|protein binding	g.chr2:231943409G>A	D44466	CCDS2482.1, CCDS54436.1	2q37.1	2008-05-22			ENSG00000173692	ENSG00000173692		"Proteasome (prosome, macropain) subunits"	9554	protein-coding gene	gene with protein product						8816993	Standard	NM_002807		Approved	S1, P112, Rpn2	uc002vrn.2	Q99460	OTTHUMG00000133223	ENST00000308696.6:c.1108G>A	2.37:g.231943409G>A	ENSP00000309474:p.Val370Ile					PSMD1_ENST00000373635.4_Missense_Mutation_p.V370I|PSMD1_ENST00000409643.1_Missense_Mutation_p.V370I	p.V370I	NM_002807.3	NP_002798.2	Q99460	PSMD1_HUMAN		Epithelial(121;4e-26)|LUSC - Lung squamous cell carcinoma(224;0.0138)|Lung(119;0.0168)	10	1270	+		Ovarian(221;0.000626)|Medulloblastoma(418;0.0109)|Renal(207;0.0112)|Lung NSC(271;0.0538)|all_lung(227;0.0713)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167)	370					B8ZZH9|Q24JU0|Q53TI2|Q6GMU5|Q6P2P4|Q6PJM7|Q6PKG9|Q86VU1|Q8IV79	Missense_Mutation	SNP	ENST00000308696.6	37	c.1108G>A	CCDS2482.1	.	.	.	.	.	.	.	.	.	.	G	18.99	3.738860	0.69304	.	.	ENSG00000173692	ENST00000308696;ENST00000373635;ENST00000409643	.	.	.	5.68	5.68	0.88126	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.64907	0.2641	M	0.66439	2.03	0.80722	D	1	D;D	0.58620	0.977;0.983	P;P	0.48952	0.481;0.596	T	0.60677	-0.7216	9	0.20519	T	0.43	-20.7363	19.7837	0.96428	0.0:0.0:1.0:0.0	.	370;370	Q99460;Q99460-2	PSMD1_HUMAN;.	I	370	.	ENSP00000309474:V370I	V	+	1	0	PSMD1	231651653	1.000000	0.71417	0.986000	0.45419	0.931000	0.56810	9.785000	0.99042	2.670000	0.90874	0.585000	0.79938	GTT		0.368	PSMD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256958.2			41	79	0	0	0	1	0	41	79					A	231943409	G	A	231943409	3	1	435	1	0	0	0	0	1	0	0	0	12692	1145	40	1	1146	1	PSMD1	2	231943409	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	168056	231943409	11255964	1568	22493											
ARMC9	80210	broad.mit.edu	37	chr2	232079556	232079556	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctccacagaaggatcttgtcGctgcatttgacaacggagac	11	9	10	11	2	1	3	0	1	1	2	3	5	2	4	1	2	2	2	1	2	2	2	rs144388331		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:232079556G>A	ENST00000349938.4	+	4	384	c.190G>A	c.(190-192)Gct>Act	p.A64T	ARMC9_ENST00000483477.1_3'UTR	NM_001271466.1|NM_025139.4	NP_001258395.1|NP_079415	Q7Z3E5	ARMC9_HUMAN	armadillo repeat containing 9	64						extracellular vesicular exosome (GO:0070062)				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22		Renal(207;0.0112)|all_lung(227;0.0744)|all_hematologic(139;0.0749)|Acute lymphoblastic leukemia(138;0.167)|Medulloblastoma(418;0.184)|Lung NSC(271;0.205)		Epithelial(121;1.43e-10)|LUSC - Lung squamous cell carcinoma(224;0.017)|Lung(119;0.0189)		GGATCTTGTCGCTGCATTTGA	0.478													G|||	1	0.000199681	8e-04	0	5008	,	,		21152	0		0	False		,,,				2504	0					ENST00000349938.4																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						c.(190-192)Gct>Act		armadillo repeat containing 9		G	THR/ALA	2,4404	4.2+/-10.8	0,2,2201	129	115	120		190	-2.1	0	2	dbSNP_134	120	0,8600		0,0,4300	no	missense	ARMC9	NM_025139.3	58	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	benign	64/666	232079556	2,13004	2203	4300	6503	SO:0001583	missense	80210						binding	g.chr2:232079556G>A	BC004514	CCDS2484.1, CCDS74666.1	2q37.1	2013-02-14			ENSG00000135931	ENSG00000135931		"Armadillo repeat containing"	20730	protein-coding gene	gene with protein product						11347906	Standard	NM_025139		Approved	FLJ12584, KIAA1868, ARM, KU-MEL-1	uc031rrs.1	Q7Z3E5	OTTHUMG00000133229	ENST00000349938.4:c.190G>A	2.37:g.232079556G>A	ENSP00000258417:p.Ala64Thr					ARMC9_ENST00000483477.1_3'UTR	p.A64T	NM_001271466.1|NM_025139.3	NP_001258395.1|NP_079415.3	Q7Z3E5	ARMC9_HUMAN		Epithelial(121;1.43e-10)|LUSC - Lung squamous cell carcinoma(224;0.017)|Lung(119;0.0189)	4	384	+		Renal(207;0.0112)|all_lung(227;0.0744)|all_hematologic(139;0.0749)|Acute lymphoblastic leukemia(138;0.167)|Medulloblastoma(418;0.184)|Lung NSC(271;0.205)	64					Q53TI3|Q6P162|Q7L594|Q86WG2|Q96JF9|Q9H9R8	Missense_Mutation	SNP	ENST00000349938.4	37	c.190G>A	CCDS2484.1	.	.	.	.	.	.	.	.	.	.	G	4.859	0.159654	0.09287	4.54E-4	0.0	ENSG00000135931	ENST00000349938;ENST00000359743;ENST00000440107	T;T	0.41400	2.31;1.0	5.81	-2.13	0.07144	.	0.758384	0.12708	N	0.445739	T	0.10165	0.0249	N	0.00368	-1.59	0.09310	N	1	B	0.16802	0.019	B	0.08055	0.003	T	0.39440	-0.9614	10	0.10636	T	0.68	-1.1681	11.2062	0.48771	0.7504:0.0:0.2496:0.0	.	64	Q7Z3E5	ARMC9_HUMAN	T	64	ENSP00000258417:A64T;ENSP00000387391:A64T	ENSP00000258417:A64T	A	+	1	0	ARMC9	231787800	0.119000	0.22226	0.014000	0.15608	0.652000	0.38707	1.083000	0.30815	-0.222000	0.09958	-1.154000	0.01816	GCT		0.478	ARMC9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256966.3	NM_025139		12	36	0	0	0	1	0	12	36					A	232079556	G	A	232079556	3	1	435	1	0	0	0	0	1	0	0	0	958	1087	38	1	200	1	ARMC9	2	232079556	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	136147	232079556	11119817	1569	22494											
ARMC9	80210	broad.mit.edu	37	chr2	232123790	232123790	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ggggagtgaccgcttgaaagCcttcttgttgcaggctctgc	6	11	14	10	1	2	2	0	2	2	0	2	3	2	3	2	3	3	4	2	3	1	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:232123790C>T	ENST00000349938.4	+	11	1195	c.1001C>T	c.(1000-1002)gCc>gTc	p.A334V	ARMC9_ENST00000483477.1_3'UTR	NM_001271466.1|NM_025139.4	NP_001258395.1|NP_079415	Q7Z3E5	ARMC9_HUMAN	armadillo repeat containing 9	334						extracellular vesicular exosome (GO:0070062)				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22		Renal(207;0.0112)|all_lung(227;0.0744)|all_hematologic(139;0.0749)|Acute lymphoblastic leukemia(138;0.167)|Medulloblastoma(418;0.184)|Lung NSC(271;0.205)		Epithelial(121;1.43e-10)|LUSC - Lung squamous cell carcinoma(224;0.017)|Lung(119;0.0189)		CGCTTGAAAGCCTTCTTGTTG	0.448																																						ENST00000349938.4																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						c.(1000-1002)gCc>gTc		armadillo repeat containing 9							127	119	121					2																	232123790		2203	4300	6503	SO:0001583	missense	80210						binding	g.chr2:232123790C>T	BC004514	CCDS2484.1, CCDS74666.1	2q37.1	2013-02-14			ENSG00000135931	ENSG00000135931		"Armadillo repeat containing"	20730	protein-coding gene	gene with protein product						11347906	Standard	NM_025139		Approved	FLJ12584, KIAA1868, ARM, KU-MEL-1	uc031rrs.1	Q7Z3E5	OTTHUMG00000133229	ENST00000349938.4:c.1001C>T	2.37:g.232123790C>T	ENSP00000258417:p.Ala334Val					ARMC9_ENST00000483477.1_3'UTR	p.A334V	NM_001271466.1|NM_025139.3	NP_001258395.1|NP_079415.3	Q7Z3E5	ARMC9_HUMAN		Epithelial(121;1.43e-10)|LUSC - Lung squamous cell carcinoma(224;0.017)|Lung(119;0.0189)	11	1195	+		Renal(207;0.0112)|all_lung(227;0.0744)|all_hematologic(139;0.0749)|Acute lymphoblastic leukemia(138;0.167)|Medulloblastoma(418;0.184)|Lung NSC(271;0.205)	334					Q53TI3|Q6P162|Q7L594|Q86WG2|Q96JF9|Q9H9R8	Missense_Mutation	SNP	ENST00000349938.4	37	c.1001C>T	CCDS2484.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	22.4|22.4	4.287247|4.287247	0.80803|0.80803	.|.	.|.	ENSG00000135931|ENSG00000135931	ENST00000349938;ENST00000359743;ENST00000436339|ENST00000424740	T|.	0.19394|.	2.15|.	4.7|4.7	4.7|4.7	0.59300|0.59300	.|.	0.221569|.	0.45867|.	D|.	0.000339|.	T|T	0.69744|0.69744	0.3145|0.3145	L|L	0.55481|0.55481	1.735|1.735	0.54753|0.54753	D|D	0.999981|0.999981	D|.	0.54601|.	0.967|.	P|.	0.57101|.	0.813|.	T|T	0.68224|0.68224	-0.5465|-0.5465	10|5	0.59425|.	D|.	0.04|.	-19.266|-19.266	16.7969|16.7969	0.85604|0.85604	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	334|.	Q7Z3E5|.	ARMC9_HUMAN|.	V|S	334;334;51|37	ENSP00000258417:A334V|.	ENSP00000258417:A334V|.	A|P	+|+	2|1	0|0	ARMC9|ARMC9	231832034|231832034	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	2.951000|2.951000	0.49089|0.49089	2.344000|2.344000	0.79699|0.79699	0.561000|0.561000	0.74099|0.74099	GCC|CCT		0.448	ARMC9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256966.3	NM_025139		4	47	0	0	0	1	0	4	47					T	232123790	C	T	232123790	3	4	435	1	0	0	0	0	1	0	0	0	958	739	26	3	1039	3	ARMC9	2	232123790	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	44234	232123790	11075583	1570	22495											
ARMC9	80210	broad.mit.edu	37	chr2	232209767	232209767	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgagcccctgcaaaggccCgtcacccccggcggccacag	8	3	12	18	3	1	1	1	1	0	0	1	2	1	1	6	3	2	1	6	3	1	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:232209767C>T	ENST00000349938.4	+	21	2153	c.1959C>T	c.(1957-1959)ccC>ccT	p.P653P	ARMC9_ENST00000483477.1_3'UTR	NM_001271466.1|NM_025139.4	NP_001258395.1|NP_079415	Q7Z3E5	ARMC9_HUMAN	armadillo repeat containing 9	653						extracellular vesicular exosome (GO:0070062)				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22		Renal(207;0.0112)|all_lung(227;0.0744)|all_hematologic(139;0.0749)|Acute lymphoblastic leukemia(138;0.167)|Medulloblastoma(418;0.184)|Lung NSC(271;0.205)		Epithelial(121;1.43e-10)|LUSC - Lung squamous cell carcinoma(224;0.017)|Lung(119;0.0189)		TGCAAAGGCCCGTCACCCCCG	0.537																																						ENST00000349938.4																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						c.(1957-1959)ccC>ccT		armadillo repeat containing 9							49	54	52					2																	232209767		2203	4300	6503	SO:0001819	synonymous_variant	80210						binding	g.chr2:232209767C>T	BC004514	CCDS2484.1, CCDS74666.1	2q37.1	2013-02-14			ENSG00000135931	ENSG00000135931		"Armadillo repeat containing"	20730	protein-coding gene	gene with protein product						11347906	Standard	NM_025139		Approved	FLJ12584, KIAA1868, ARM, KU-MEL-1	uc031rrs.1	Q7Z3E5	OTTHUMG00000133229	ENST00000349938.4:c.1959C>T	2.37:g.232209767C>T						ARMC9_ENST00000483477.1_3'UTR	p.P653P	NM_001271466.1|NM_025139.3	NP_001258395.1|NP_079415.3	Q7Z3E5	ARMC9_HUMAN		Epithelial(121;1.43e-10)|LUSC - Lung squamous cell carcinoma(224;0.017)|Lung(119;0.0189)	21	2153	+		Renal(207;0.0112)|all_lung(227;0.0744)|all_hematologic(139;0.0749)|Acute lymphoblastic leukemia(138;0.167)|Medulloblastoma(418;0.184)|Lung NSC(271;0.205)	653					Q53TI3|Q6P162|Q7L594|Q86WG2|Q96JF9|Q9H9R8	Silent	SNP	ENST00000349938.4	37	c.1959C>T	CCDS2484.1																																																																																				0.537	ARMC9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256966.3	NM_025139		20	39	0	0	0	1	0	20	39					T	232209767	C	T	232209767	2	4	435	1	0	0	0	0	0	0	0	1	958	639	23	2		2	ARMC9	2	232209767	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	85977	232209767	10989606	1571	22496											
NCL	4691	broad.mit.edu	37	chr2	232321455	232321455	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctttagcgtcttcgaatgaaGcaaactctataaatgcatac	14	12	6	9	2	2	1	0	1	2	0	3	2	2	1	0	0	5	2	0	0	8	6			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:232321455G>A	ENST00000322723.4	-	11	1832	c.1592C>T	c.(1591-1593)gCt>gTt	p.A531V	SNORA75_ENST00000384158.1_RNA|SNORD20_ENST00000384550.1_RNA	NM_005381.2	NP_005372.2	P19338	NUCL_HUMAN	nucleolin	531	RRM 3. {ECO:0000255|PROSITE- ProRule:PRU00176}.				angiogenesis (GO:0001525)|positive regulation of transcription of nuclear large rRNA transcript from RNA polymerase I promoter (GO:1901838)	cell cortex (GO:0005938)|cytoplasmic ribonucleoprotein granule (GO:0036464)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)|RNA binding (GO:0003723)|telomeric DNA binding (GO:0042162)			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(7)|ovary(2)|pancreas(2)|prostate(2)|skin(3)	35		Ovarian(221;1.34e-05)|Renal(207;0.0112)|Lung NSC(271;0.0339)|all_lung(227;0.0616)|all_hematologic(139;0.0748)|Hepatocellular(293;0.137)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.65e-111)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.014)|COAD - Colon adenocarcinoma(134;0.141)|STAD - Stomach adenocarcinoma(1183;0.18)		TTCGAATGAAGCAAACTCTAT	0.448																																						ENST00000322723.4																			0				breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(7)|ovary(2)|pancreas(2)|prostate(2)|skin(3)	35						c.(1591-1593)gCt>gTt		nucleolin							93	92	93					2																	232321455		2203	4300	6503	SO:0001583	missense	4691				angiogenesis	cell cortex|nucleolus|ribonucleoprotein complex	nucleotide binding|protein C-terminus binding|RNA binding|telomeric DNA binding	g.chr2:232321455G>A		CCDS33397.1	2q37.1	2013-09-19			ENSG00000115053	ENSG00000115053		"RNA binding motif (RRM) containing"	7667	protein-coding gene	gene with protein product		164035				2394707, 3409881	Standard	NM_005381		Approved	C23	uc002vru.3	P19338	OTTHUMG00000153866	ENST00000322723.4:c.1592C>T	2.37:g.232321455G>A	ENSP00000318195:p.Ala531Val						p.A531V	NM_005381.2	NP_005372.2	P19338	NUCL_HUMAN		Epithelial(121;1.65e-111)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.014)|COAD - Colon adenocarcinoma(134;0.141)|STAD - Stomach adenocarcinoma(1183;0.18)	11	1832	-		Ovarian(221;1.34e-05)|Renal(207;0.0112)|Lung NSC(271;0.0339)|all_lung(227;0.0616)|all_hematologic(139;0.0748)|Hepatocellular(293;0.137)|Acute lymphoblastic leukemia(138;0.167)	531			RRM 3.		Q53SK1|Q8NB06|Q9UCF0|Q9UDG1	Missense_Mutation	SNP	ENST00000322723.4	37	c.1592C>T	CCDS33397.1	.	.	.	.	.	.	.	.	.	.	G	19.63	3.863926	0.71949	.	.	ENSG00000115053	ENST00000322723;ENST00000392033;ENST00000322732;ENST00000356936	T;D	0.88818	2.29;-2.43	5.6	5.6	0.85130	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.466636	0.26048	N	0.026656	D	0.90116	0.6912	N	0.25485	0.75	0.35201	D	0.77424	D	0.56035	0.974	P	0.60012	0.867	D	0.92669	0.6148	10	0.52906	T	0.07	-9.5425	18.6624	0.91475	0.0:0.0:1.0:0.0	.	531	P19338	NUCL_HUMAN	V	531;423;303;156	ENSP00000318195:A531V;ENSP00000349410:A156V	ENSP00000318195:A531V	A	-	2	0	NCL	232029699	1.000000	0.71417	1.000000	0.80357	0.531000	0.34715	5.067000	0.64357	2.651000	0.90000	0.551000	0.68910	GCT		0.448	NCL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332731.1	NM_005381		26	46	0	0	0	1	0	26	46					A	232321455	G	A	232321455	3	1	435	1	0	0	0	0	1	0	0	0	10226	971	34	3	556	3	NCL	2	232321455	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	111688	232321455	10877918	1572	22497											
DIS3L2	129563	broad.mit.edu	37	chr2	233001355	233001355	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ccccaggactttgtggcacgGcctaaagattatgccaacac	11	8	9	13	1	0	1	0	0	0	1	0	2	0	2	4	3	2	1	4	3	4	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:233001355G>A	ENST00000360410.4	+	9	1211	c.935G>A	c.(934-936)gGc>gAc	p.G312D	DIS3L2_ENST00000273009.6_Silent_p.R292R|DIS3L2_ENST00000409307.1_Silent_p.R292R|DIS3L2_ENST00000325385.7_Silent_p.R292R					DIS3 like 3'-5' exoribonuclease 2											breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(18)|ovary(1)|prostate(2)|urinary_tract(1)	40		all_hematologic(139;0.00809)|Renal(207;0.0113)|Acute lymphoblastic leukemia(138;0.0195)|all_lung(227;0.0465)|Lung NSC(271;0.136)		Epithelial(121;1.6e-13)|BRCA - Breast invasive adenocarcinoma(100;0.00104)|LUSC - Lung squamous cell carcinoma(224;0.0109)|Lung(119;0.0149)		TTGTGGCACGGCCTAAAGATT	0.507																																						ENST00000360410.4																			0				breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(18)|ovary(1)|prostate(2)|urinary_tract(1)	40						c.(934-936)gGc>gAc		DIS3 mitotic control homolog (S. cerevisiae)-like 2							145	138	140					2																	233001355		1942	4145	6087	SO:0001583	missense	129563						exonuclease activity|ribonuclease activity|RNA binding	g.chr2:233001355G>A	BC026166	CCDS42834.1, CCDS58752.1, CCDS58753.1	2q37.1	2014-09-17	2014-03-05		ENSG00000144535	ENSG00000144535			28648	protein-coding gene	gene with protein product		614184	"family with sequence similarity 6, member A", "DIS3 mitotic control homolog (S. cerevisiae)-like 2"	FAM6A		22306653, 23503588	Standard	NM_152383		Approved	FLJ36974, MGC42174	uc010fxz.3	Q8IYB7	OTTHUMG00000153385	ENST00000360410.4:c.935G>A	2.37:g.233001355G>A	ENSP00000353584:p.Gly312Asp					DIS3L2_ENST00000325385.7_Silent_p.R292R|DIS3L2_ENST00000273009.6_Silent_p.R292R|DIS3L2_ENST00000409307.1_Silent_p.R292R	p.G312D			Q8IYB7	DI3L2_HUMAN		Epithelial(121;1.6e-13)|BRCA - Breast invasive adenocarcinoma(100;0.00104)|LUSC - Lung squamous cell carcinoma(224;0.0109)|Lung(119;0.0149)	9	1211	+		all_hematologic(139;0.00809)|Renal(207;0.0113)|Acute lymphoblastic leukemia(138;0.0195)|all_lung(227;0.0465)|Lung NSC(271;0.136)	0						Missense_Mutation	SNP	ENST00000360410.4	37	c.935G>A		.	.	.	.	.	.	.	.	.	.	G	18.05	3.537130	0.65085	.	.	ENSG00000144535	ENST00000360410	T	0.46451	0.87	6.08	0.258	0.15578	.	.	.	.	.	T	0.41373	0.1156	.	.	.	0.22754	N	0.998776	.	.	.	.	.	.	T	0.40346	-0.9568	6	0.87932	D	0	-18.8898	7.0912	0.25285	0.4522:0.1127:0.4351:0.0	.	.	.	.	D	312	ENSP00000353584:G312D	ENSP00000353584:G312D	G	+	2	0	DIS3L2	232709599	0.969000	0.33509	0.996000	0.52242	0.992000	0.81027	0.081000	0.14823	-0.024000	0.13941	-0.469000	0.05056	GGC		0.507	DIS3L2-202	KNOWN	basic	protein_coding	protein_coding		NM_152383		40	57	0	0	0	1	0	40	57					A	233001355	G	A	233001355	3	1	435	1	0	0	0	0	1	0	0	0	4537	1190	42	3	902	3	DIS3L2	2	233001355	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	679900	233001355	10198018	1573	22498											
DIS3L2	129563	broad.mit.edu	37	chr2	233127987	233127987	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tagctacgagcatgcacagaGcatgattgaaagcccaactg	14	7	10	10	1	0	3	0	2	0	1	0	4	0	3	1	0	7	4	1	0	4	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:233127987G>A	ENST00000409307.1	+	12	1496	c.1496G>A	c.(1495-1497)aGc>aAc	p.S499N	DIS3L2_ENST00000273009.6_Missense_Mutation_p.S499N|DIS3L2_ENST00000325385.7_Missense_Mutation_p.S499N					DIS3 like 3'-5' exoribonuclease 2											breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(18)|ovary(1)|prostate(2)|urinary_tract(1)	40		all_hematologic(139;0.00809)|Renal(207;0.0113)|Acute lymphoblastic leukemia(138;0.0195)|all_lung(227;0.0465)|Lung NSC(271;0.136)		Epithelial(121;1.6e-13)|BRCA - Breast invasive adenocarcinoma(100;0.00104)|LUSC - Lung squamous cell carcinoma(224;0.0109)|Lung(119;0.0149)		CATGCACAGAGCATGATTGAA	0.512																																						ENST00000325385.7																			0				breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(18)|ovary(1)|prostate(2)|urinary_tract(1)	40						c.(1495-1497)aGc>aAc		DIS3 mitotic control homolog (S. cerevisiae)-like 2							86	90	89					2																	233127987		1975	4154	6129	SO:0001583	missense	129563						exonuclease activity|ribonuclease activity|RNA binding	g.chr2:233127987G>A	BC026166	CCDS42834.1, CCDS58752.1, CCDS58753.1	2q37.1	2014-09-17	2014-03-05		ENSG00000144535	ENSG00000144535			28648	protein-coding gene	gene with protein product		614184	"family with sequence similarity 6, member A", "DIS3 mitotic control homolog (S. cerevisiae)-like 2"	FAM6A		22306653, 23503588	Standard	NM_152383		Approved	FLJ36974, MGC42174	uc010fxz.3	Q8IYB7	OTTHUMG00000153385	ENST00000409307.1:c.1496G>A	2.37:g.233127987G>A	ENSP00000386799:p.Ser499Asn					DIS3L2_ENST00000273009.6_Missense_Mutation_p.S499N|DIS3L2_ENST00000409307.1_Missense_Mutation_p.S499N	p.S499N	NM_152383.4	NP_689596.4	Q8IYB7	DI3L2_HUMAN		Epithelial(121;1.6e-13)|BRCA - Breast invasive adenocarcinoma(100;0.00104)|LUSC - Lung squamous cell carcinoma(224;0.0109)|Lung(119;0.0149)	13	1772	+		all_hematologic(139;0.00809)|Renal(207;0.0113)|Acute lymphoblastic leukemia(138;0.0195)|all_lung(227;0.0465)|Lung NSC(271;0.136)	499						Missense_Mutation	SNP	ENST00000409307.1	37	c.1496G>A	CCDS42834.1	.	.	.	.	.	.	.	.	.	.	G	11.60	1.688282	0.29962	.	.	ENSG00000144535	ENST00000273009;ENST00000542873;ENST00000325385;ENST00000431466;ENST00000409307;ENST00000424049	T;T;T;T	0.36157	1.27;1.27;1.27;1.27	5.34	4.47	0.54385	Ribonuclease II/R (2);	0.084818	0.85682	D	0.000000	T	0.22085	0.0532	N	0.20685	0.6	0.80722	D	1	B	0.13145	0.007	B	0.18263	0.021	T	0.05784	-1.0864	10	0.17832	T	0.49	-8.9184	10.1977	0.43065	0.1514:0.0:0.8486:0.0	.	499	Q8IYB7	DI3L2_HUMAN	N	499;499;499;499;499;134	ENSP00000273009:S499N;ENSP00000315569:S499N;ENSP00000386799:S499N;ENSP00000415419:S134N	ENSP00000273009:S499N	S	+	2	0	DIS3L2	232836231	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	5.599000	0.67592	1.258000	0.44101	-0.142000	0.14014	AGC		0.512	DIS3L2-015	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330988.1	NM_152383		14	25	0	0	0	1	0	14	25					A	233127987	G	A	233127987	3	1	435	1	0	0	0	0	1	0	0	0	4537	971	34	3	1542	3	DIS3L2	2	233127987	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	126632	233127987	10071386	1574	22499											
ALPPL2	251	broad.mit.edu	37	chr2	233271616	233271616	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cttccagacatgcaggggccCtgggtgctgctcctgctggg	4	9	15	13	0	0	1	0	0	0	1	2	1	2	1	3	4	4	4	3	4	0	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:233271616C>A	ENST00000295453.3	+	1	64	c.12C>A	c.(10-12)ccC>ccA	p.P4P		NM_031313.2	NP_112603.2	P10696	PPBN_HUMAN	alkaline phosphatase, placental-like 2	4					dephosphorylation (GO:0016311)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)	alkaline phosphatase activity (GO:0004035)|metal ion binding (GO:0046872)			breast(2)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(1)	13		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)	Amifostine(DB01143)	TGCAGGGGCCCTGGGTGCTGC	0.607																																						ENST00000295453.3																			0				breast(2)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(1)	13						c.(10-12)ccC>ccA		alkaline phosphatase, placental-like 2	Amifostine(DB01143)|Levamisole(DB00848)						72	77	75					2																	233271616		2203	4300	6503	SO:0001819	synonymous_variant	251				phosphorylation	anchored to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding	g.chr2:233271616C>A	J04948	CCDS2491.1	2q37	2008-05-20			ENSG00000163286	ENSG00000163286			441	protein-coding gene	gene with protein product		171810					Standard	NM_031313		Approved		uc002vss.4	P10696	OTTHUMG00000133257	ENST00000295453.3:c.12C>A	2.37:g.233271616C>A							p.P4P	NM_031313.2	NP_112603.2	P10696	PPBN_HUMAN		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)	1	64	+		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)	4					A8KAF2|Q16727|Q53S81|Q96CM1	Silent	SNP	ENST00000295453.3	37	c.12C>A	CCDS2491.1																																																																																				0.607	ALPPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257034.2	NM_031313		18	33	1	0	1.00905e-13	1	1.09755e-13	18	33					A	233271616	C	A	233271616	2	1	435	1	0	0	0	0	0	0	0	1	549	668	24	5		5	ALPPL2	2	233271616	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	143629	233271616	9927757	1575	22500											
ALPI	248	broad.mit.edu	37	chr2	233323451	233323451	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cgaccagacgtgaatgagagCgagagcggtgagtgaggctg	11	5	18	7	4	0	6	0	4	0	3	0	9	0	6	1	2	2	1	1	2	1	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:233323451C>T	ENST00000295463.3	+	10	1370	c.1293C>T	c.(1291-1293)agC>agT	p.S431S		NM_001631.3	NP_001622.2	P09923	PPBI_HUMAN	alkaline phosphatase, intestinal	431					dephosphorylation (GO:0016311)	anchored component of membrane (GO:0031225)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alkaline phosphatase activity (GO:0004035)|magnesium ion binding (GO:0000287)|protease binding (GO:0002020)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|prostate(2)|upper_aerodigestive_tract(1)	24		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;1.64e-16)|Kidney(3;9.71e-08)|KIRC - Kidney renal clear cell carcinoma(3;2.74e-06)|BRCA - Breast invasive adenocarcinoma(100;0.000763)|Lung(119;0.00564)|LUSC - Lung squamous cell carcinoma(224;0.00746)		TGAATGAGAGCGAGAGCGGTG	0.652																																						ENST00000295463.3																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|prostate(2)|upper_aerodigestive_tract(1)	24						c.(1291-1293)agC>agT		alkaline phosphatase, intestinal							61	57	58					2																	233323451		2203	4300	6503	SO:0001819	synonymous_variant	248				phosphorylation	anchored to membrane|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding|protein binding	g.chr2:233323451C>T	M15694	CCDS2492.1	2q37.1	2008-02-05			ENSG00000163295	ENSG00000163295	3.1.3.1		437	protein-coding gene	gene with protein product		171740				3468508, 3469665	Standard	NM_001631		Approved		uc002vst.4	P09923	OTTHUMG00000133258	ENST00000295463.3:c.1293C>T	2.37:g.233323451C>T							p.S431S	NM_001631.3	NP_001622.2	P09923	PPBI_HUMAN		Epithelial(121;1.64e-16)|Kidney(3;9.71e-08)|KIRC - Kidney renal clear cell carcinoma(3;2.74e-06)|BRCA - Breast invasive adenocarcinoma(100;0.000763)|Lung(119;0.00564)|LUSC - Lung squamous cell carcinoma(224;0.00746)	10	1370	+		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)	431					B2R7Y4|Q53S80|Q9UBV5|Q9UCL2	Silent	SNP	ENST00000295463.3	37	c.1293C>T	CCDS2492.1																																																																																				0.652	ALPI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257035.2	NM_001631		6	16	0	0	0	1	0	6	16					T	233323451	C	T	233323451	2	4	435	1	0	0	0	0	0	0	0	1	543	767	27	1		1	ALPI	2	233323451	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	51835	233323451	9875922	1576	22501											
CHRNG	1146	broad.mit.edu	37	chr2	233407646	233407646	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caagatgctcctggacccagCggcgccagcccaggaagcag	10	3	13	15	2	0	1	0	0	0	1	1	3	1	3	4	3	4	2	4	3	2	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:233407646C>T	ENST00000389494.3	+	7	680	c.659C>T	c.(658-660)gCg>gTg	p.A220V	CHRNG_ENST00000389492.3_Missense_Mutation_p.A168V	NM_005199.4	NP_005190.4	P07510	ACHG_HUMAN	cholinergic receptor, nicotinic, gamma (muscle)	220					muscle contraction (GO:0006936)|regulation of membrane potential (GO:0042391)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|channel activity (GO:0015267)			breast(2)|endometrium(3)|large_intestine(4)|lung(12)|upper_aerodigestive_tract(1)	22		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;6.39e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00079)|LUSC - Lung squamous cell carcinoma(224;0.00757)|Lung(119;0.0086)	Galantamine(DB00674)	CTGGACCCAGCGGCGCCAGCC	0.632																																						ENST00000389494.3																			0				breast(2)|endometrium(3)|large_intestine(4)|lung(12)|upper_aerodigestive_tract(1)	22						c.(658-660)gCg>gTg		cholinergic receptor, nicotinic, gamma (muscle)							121	98	106					2																	233407646		2203	4300	6503	SO:0001583	missense	1146				muscle contraction	cell junction|postsynaptic membrane	acetylcholine receptor activity	g.chr2:233407646C>T	X01715	CCDS33400.1	2q37.1	2012-10-02	2012-02-07		ENSG00000196811	ENSG00000196811		"Cholinergic receptors", "Ligand-gated ion channels / Acetylcholine receptors, nicotinic"	1967	protein-coding gene	gene with protein product	"acetylcholine receptor, nicotinic, gamma (muscle)"	100730	"cholinergic receptor, nicotinic, gamma"	ACHRG			Standard	NM_005199		Approved		uc002vsx.1	P07510	OTTHUMG00000153327	ENST00000389494.3:c.659C>T	2.37:g.233407646C>T	ENSP00000374145:p.Ala220Val					CHRNG_ENST00000389492.3_Missense_Mutation_p.A168V	p.A220V	NM_005199.4	NP_005190.4	P07510	ACHG_HUMAN		Epithelial(121;6.39e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00079)|LUSC - Lung squamous cell carcinoma(224;0.00757)|Lung(119;0.0086)	7	680	+		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)	220					B3KWM8|Q14DU4|Q53RG2	Missense_Mutation	SNP	ENST00000389494.3	37	c.659C>T	CCDS33400.1	.	.	.	.	.	.	.	.	.	.	C	4.038	0.004711	0.07866	.	.	ENSG00000196811	ENST00000389494;ENST00000541596;ENST00000389492	T;T	0.76968	-1.06;-1.06	4.96	-9.92	0.00455	Neurotransmitter-gated ion-channel ligand-binding (3);	0.907755	0.09554	N	0.786478	T	0.40423	0.1116	N	0.03050	-0.425	0.09310	N	1	B;B	0.14438	0.01;0.001	B;B	0.10450	0.004;0.005	T	0.35025	-0.9805	10	0.16420	T	0.52	.	2.4663	0.04554	0.3177:0.1044:0.3897:0.1883	.	168;220	Q14DU4;P07510	.;ACHG_HUMAN	V	220;220;168	ENSP00000374145:A220V;ENSP00000374143:A168V	ENSP00000374143:A168V	A	+	2	0	CHRNG	233115890	0.000000	0.05858	0.000000	0.03702	0.057000	0.15508	-1.995000	0.01472	-2.398000	0.00580	-0.379000	0.06801	GCG		0.632	CHRNG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330743.1	NM_005199		14	16	0	0	0	1	0	14	16					T	233407646	C	T	233407646	3	4	435	1	0	0	0	0	1	0	0	0	3396	768	27	1	685	1	CHRNG	2	233407646	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	84195	233407646	9791727	1577	22502											
EFHD1	80303	broad.mit.edu	37	chr2	233498631	233498631	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acgagggcgctgcgcggcccCggcgctgcagggtcttcaac	5	5	16	15	6	2	0	1	0	1	0	2	1	2	0	2	4	3	3	2	4	1	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:233498631C>T	ENST00000264059.3	+	1	694	c.217C>T	c.(217-219)Cgg>Tgg	p.R73W	EFHD1_ENST00000409613.1_Intron	NM_025202.3	NP_079478.1	Q9BUP0	EFHD1_HUMAN	EF-hand domain family, member D1	73					neuron projection development (GO:0031175)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|large_intestine(2)|lung(3)	7		all_hematologic(139;0.0123)|Acute lymphoblastic leukemia(138;0.0182)|Breast(86;0.0199)|Renal(207;0.025)		Epithelial(121;2.08e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000383)|LUSC - Lung squamous cell carcinoma(224;0.00825)|Lung(119;0.0101)		TGCGCGGCCCCGGCGCTGCAG	0.711																																						ENST00000264059.3																			0				NS(1)|breast(1)|large_intestine(2)|lung(3)	7						c.(217-219)Cgg>Tgg		EF-hand domain family, member D1							9	11	10					2																	233498631		2114	4224	6338	SO:0001583	missense	80303						calcium ion binding|protein binding	g.chr2:233498631C>T		CCDS2497.1, CCDS58755.1	2q37.1	2014-07-01	2005-01-25		ENSG00000115468	ENSG00000115468		"EF-hand domain containing"	29556	protein-coding gene	gene with protein product	"swiprosin-2"	611617	"EF hand domain containing 1"			21244694	Standard	NM_025202		Approved	FLJ13612	uc002vtc.3	Q9BUP0	OTTHUMG00000133263	ENST00000264059.3:c.217C>T	2.37:g.233498631C>T	ENSP00000264059:p.Arg73Trp					EFHD1_ENST00000409613.1_Intron	p.R73W	NM_025202.3	NP_079478.1	Q9BUP0	EFHD1_HUMAN		Epithelial(121;2.08e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000383)|LUSC - Lung squamous cell carcinoma(224;0.00825)|Lung(119;0.0101)	1	694	+		all_hematologic(139;0.0123)|Acute lymphoblastic leukemia(138;0.0182)|Breast(86;0.0199)|Renal(207;0.025)	73					B2RD83|E9PFH3|Q9BTF8|Q9H8I2|Q9HBQ0	Missense_Mutation	SNP	ENST00000264059.3	37	c.217C>T	CCDS2497.1	.	.	.	.	.	.	.	.	.	.	C	18.54	3.645972	0.67358	.	.	ENSG00000115468	ENST00000264059	T	0.66460	-0.21	3.46	2.56	0.30785	.	0.568645	0.17452	N	0.173759	T	0.63815	0.2543	L	0.50333	1.59	0.58432	D	0.999999	D	0.69078	0.997	P	0.49502	0.613	T	0.63256	-0.6678	10	0.72032	D	0.01	-1.5601	7.2362	0.26072	0.192:0.6213:0.1867:0.0	.	73	Q9BUP0	EFHD1_HUMAN	W	73	ENSP00000264059:R73W	ENSP00000264059:R73W	R	+	1	2	EFHD1	233206875	0.797000	0.28877	0.119000	0.21687	0.643000	0.38383	1.973000	0.40550	0.638000	0.30545	0.491000	0.48974	CGG		0.711	EFHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257040.2	NM_025202		4	8	0	0	0	1	0	4	8					T	233498631	C	T	233498631	3	4	435	1	0	0	0	0	1	0	0	0	4948	643	23	2	219	2	EFHD1	2	233498631	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	90985	233498631	9700742	1578	22503											
NGEF	25791	broad.mit.edu	37	chr2	233744303	233744303	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttccttgaggttctgggaccGgatcttgggattcaagatct	7	14	12	8	1	4	2	1	1	3	1	5	5	5	5	2	4	0	1	2	4	1	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:233744303G>A	ENST00000264051.3	-	15	2307	c.2029C>T	c.(2029-2031)Cgg>Tgg	p.R677W	NGEF_ENST00000539537.1_Missense_Mutation_p.R400W|NGEF_ENST00000373552.4_Missense_Mutation_p.R585W	NM_019850.2	NP_062824.2	Q8N5V2	NGEF_HUMAN	neuronal guanine nucleotide exchange factor	677					apoptotic signaling pathway (GO:0097190)|ephrin receptor signaling pathway (GO:0048013)|negative regulation of dendritic spine morphogenesis (GO:0061002)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of GTPase activity (GO:0043087)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell projection (GO:0042995)|cytosol (GO:0005829)|membrane (GO:0016020)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			central_nervous_system(4)|endometrium(8)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|pancreas(1)|skin(4)	35		Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.00793)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;8.65e-17)|BRCA - Breast invasive adenocarcinoma(100;0.00037)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(119;0.00984)|GBM - Glioblastoma multiforme(43;0.0604)		TTCTGGGACCGGATCTTGGGA	0.592																																						ENST00000264051.3																			0				central_nervous_system(4)|endometrium(8)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|pancreas(1)|skin(4)	35						c.(2029-2031)Cgg>Tgg		neuronal guanine nucleotide exchange factor							92	91	92					2																	233744303		2203	4300	6503	SO:0001583	missense	25791				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|growth cone|plasma membrane	Rho guanyl-nucleotide exchange factor activity	g.chr2:233744303G>A	AJ238899	CCDS2500.1, CCDS46544.1	2q37	2012-07-24			ENSG00000066248	ENSG00000066248		"Rho guanine nucleotide exchange factors"	7807	protein-coding gene	gene with protein product	"ephexin"	605991				10777665	Standard	NM_019850		Approved	ARHGEF27	uc002vts.2	Q8N5V2	OTTHUMG00000133272	ENST00000264051.3:c.2029C>T	2.37:g.233744303G>A	ENSP00000264051:p.Arg677Trp					NGEF_ENST00000539537.1_Missense_Mutation_p.R400W|NGEF_ENST00000373552.4_Missense_Mutation_p.R585W	p.R677W	NM_019850.2	NP_062824.2	Q8N5V2	NGEF_HUMAN		Epithelial(121;8.65e-17)|BRCA - Breast invasive adenocarcinoma(100;0.00037)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(119;0.00984)|GBM - Glioblastoma multiforme(43;0.0604)	15	2307	-		Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.00793)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)	677					B4DMB8|B9A045|E9PC42|Q53QQ4|Q53ST7|Q6GMQ5|Q9NQD6	Missense_Mutation	SNP	ENST00000264051.3	37	c.2029C>T	CCDS2500.1	.	.	.	.	.	.	.	.	.	.	g	19.03	3.747004	0.69418	.	.	ENSG00000066248	ENST00000264051;ENST00000373552;ENST00000541023;ENST00000539537	T;T;T	0.74526	-0.6;-0.85;-0.72	4.19	2.18	0.27775	.	0.000000	0.85682	D	0.000000	T	0.77103	0.4081	L	0.29908	0.895	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.78064	-0.2350	10	0.87932	D	0	-28.6024	11.908	0.52723	0.0:0.0:0.6839:0.3161	.	585;677	E9PC42;Q8N5V2	.;NGEF_HUMAN	W	677;585;567;400	ENSP00000264051:R677W;ENSP00000362653:R585W;ENSP00000439035:R400W	ENSP00000264051:R677W	R	-	1	2	NGEF	233452547	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.004000	0.63966	0.716000	0.32124	-0.319000	0.08680	CGG		0.592	NGEF-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000257051.2	XM_044799		40	63	0	0	0	1	0	40	63					A	233744303	G	A	233744303	3	1	435	1	0	0	0	0	1	0	0	0	10394	1115	39	2	107	2	NGEF	2	233744303	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	245672	233744303	9455070	1579	22504											
NGEF	25791	broad.mit.edu	37	chr2	233756165	233756165	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggggtcgagctctagctgcGcgatcagctcccggaaagct	7	8	14	12	4	2	0	1	0	1	0	4	3	3	1	1	3	5	4	1	3	2	1	rs377471982		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:233756165G>A	ENST00000264051.3	-	8	1453	c.1175C>T	c.(1174-1176)gCg>gTg	p.A392V	NGEF_ENST00000539537.1_Missense_Mutation_p.A115V|NGEF_ENST00000373552.4_Missense_Mutation_p.A300V	NM_019850.2	NP_062824.2	Q8N5V2	NGEF_HUMAN	neuronal guanine nucleotide exchange factor	392	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				apoptotic signaling pathway (GO:0097190)|ephrin receptor signaling pathway (GO:0048013)|negative regulation of dendritic spine morphogenesis (GO:0061002)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of GTPase activity (GO:0043087)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell projection (GO:0042995)|cytosol (GO:0005829)|membrane (GO:0016020)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			central_nervous_system(4)|endometrium(8)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|pancreas(1)|skin(4)	35		Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.00793)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;8.65e-17)|BRCA - Breast invasive adenocarcinoma(100;0.00037)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(119;0.00984)|GBM - Glioblastoma multiforme(43;0.0604)		CTCTAGCTGCGCGATCAGCTC	0.607																																						ENST00000264051.3																			0				central_nervous_system(4)|endometrium(8)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|pancreas(1)|skin(4)	35						c.(1174-1176)gCg>gTg		neuronal guanine nucleotide exchange factor		G	VAL/ALA,VAL/ALA	2,4404	4.2+/-10.8	0,2,2201	91	83	86		899,1175	5.2	0	2		86	0,8600		0,0,4300	no	missense,missense	NGEF	NM_001114090.1,NM_019850.2	64,64	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	possibly-damaging,possibly-damaging	300/619,392/711	233756165	2,13004	2203	4300	6503	SO:0001583	missense	25791				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|growth cone|plasma membrane	Rho guanyl-nucleotide exchange factor activity	g.chr2:233756165G>A	AJ238899	CCDS2500.1, CCDS46544.1	2q37	2012-07-24			ENSG00000066248	ENSG00000066248		"Rho guanine nucleotide exchange factors"	7807	protein-coding gene	gene with protein product	"ephexin"	605991				10777665	Standard	NM_019850		Approved	ARHGEF27	uc002vts.2	Q8N5V2	OTTHUMG00000133272	ENST00000264051.3:c.1175C>T	2.37:g.233756165G>A	ENSP00000264051:p.Ala392Val					NGEF_ENST00000539537.1_Missense_Mutation_p.A115V|NGEF_ENST00000373552.4_Missense_Mutation_p.A300V	p.A392V	NM_019850.2	NP_062824.2	Q8N5V2	NGEF_HUMAN		Epithelial(121;8.65e-17)|BRCA - Breast invasive adenocarcinoma(100;0.00037)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(119;0.00984)|GBM - Glioblastoma multiforme(43;0.0604)	8	1453	-		Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.00793)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)	392			DH.		B4DMB8|B9A045|E9PC42|Q53QQ4|Q53ST7|Q6GMQ5|Q9NQD6	Missense_Mutation	SNP	ENST00000264051.3	37	c.1175C>T	CCDS2500.1	.	.	.	.	.	.	.	.	.	.	G	16.31	3.086528	0.55861	4.54E-4	0.0	ENSG00000066248	ENST00000264051;ENST00000373552;ENST00000541023;ENST00000539537;ENST00000416114;ENST00000458735	T;T;T;T;T	0.30448	1.53;1.53;1.53;1.53;1.53	6.07	5.19	0.71726	Dbl homology (DH) domain (5);	0.579014	0.19410	N	0.114946	T	0.35913	0.0948	L	0.49778	1.585	0.19775	N	0.999959	P;P	0.49862	0.539;0.929	P;B	0.46253	0.509;0.355	T	0.17899	-1.0354	10	0.36615	T	0.2	-9.4337	15.6668	0.77236	0.0:0.2745:0.7255:0.0	.	300;392	E9PC42;Q8N5V2	.;NGEF_HUMAN	V	392;300;282;115;115;115	ENSP00000264051:A392V;ENSP00000362653:A300V;ENSP00000439035:A115V;ENSP00000401063:A115V;ENSP00000412614:A115V	ENSP00000264051:A392V	A	-	2	0	NGEF	233464409	0.904000	0.30761	0.010000	0.14722	0.209000	0.24338	4.313000	0.59160	1.563000	0.49615	0.655000	0.94253	GCG		0.607	NGEF-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000257051.2	XM_044799		6	25	0	0	0	1	0	6	25					A	233756165	G	A	233756165	3	1	435	1	0	0	0	0	1	0	0	0	10394	1087	38	1	989	1	NGEF	2	233756165	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	11862	233756165	9443208	1580	22505											
NGEF	25791	broad.mit.edu	37	chr2	233759598	233759598	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcagactcttgtagtaggacGcctcggaagtgaccagctcg	9	9	12	11	3	2	2	1	1	1	1	4	4	2	4	2	2	1	3	2	2	3	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:233759598G>A	ENST00000264051.3	-	6	1135	c.857C>T	c.(856-858)gCg>gTg	p.A286V	NGEF_ENST00000539537.1_Missense_Mutation_p.A9V|NGEF_ENST00000373552.4_Missense_Mutation_p.A194V|NGEF_ENST00000409079.1_Missense_Mutation_p.A194V	NM_019850.2	NP_062824.2	Q8N5V2	NGEF_HUMAN	neuronal guanine nucleotide exchange factor	286	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				apoptotic signaling pathway (GO:0097190)|ephrin receptor signaling pathway (GO:0048013)|negative regulation of dendritic spine morphogenesis (GO:0061002)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of GTPase activity (GO:0043087)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell projection (GO:0042995)|cytosol (GO:0005829)|membrane (GO:0016020)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			central_nervous_system(4)|endometrium(8)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|pancreas(1)|skin(4)	35		Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.00793)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;8.65e-17)|BRCA - Breast invasive adenocarcinoma(100;0.00037)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(119;0.00984)|GBM - Glioblastoma multiforme(43;0.0604)		GTAGTAGGACGCCTCGGAAGT	0.582																																						ENST00000264051.3																			0				central_nervous_system(4)|endometrium(8)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|pancreas(1)|skin(4)	35						c.(856-858)gCg>gTg		neuronal guanine nucleotide exchange factor							119	105	110					2																	233759598		2203	4300	6503	SO:0001583	missense	25791				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|growth cone|plasma membrane	Rho guanyl-nucleotide exchange factor activity	g.chr2:233759598G>A	AJ238899	CCDS2500.1, CCDS46544.1	2q37	2012-07-24			ENSG00000066248	ENSG00000066248		"Rho guanine nucleotide exchange factors"	7807	protein-coding gene	gene with protein product	"ephexin"	605991				10777665	Standard	NM_019850		Approved	ARHGEF27	uc002vts.2	Q8N5V2	OTTHUMG00000133272	ENST00000264051.3:c.857C>T	2.37:g.233759598G>A	ENSP00000264051:p.Ala286Val					NGEF_ENST00000409079.1_Missense_Mutation_p.A194V|NGEF_ENST00000539537.1_Missense_Mutation_p.A9V|NGEF_ENST00000373552.4_Missense_Mutation_p.A194V	p.A286V	NM_019850.2	NP_062824.2	Q8N5V2	NGEF_HUMAN		Epithelial(121;8.65e-17)|BRCA - Breast invasive adenocarcinoma(100;0.00037)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(119;0.00984)|GBM - Glioblastoma multiforme(43;0.0604)	6	1135	-		Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.00793)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)	286			DH.		B4DMB8|B9A045|E9PC42|Q53QQ4|Q53ST7|Q6GMQ5|Q9NQD6	Missense_Mutation	SNP	ENST00000264051.3	37	c.857C>T	CCDS2500.1	.	.	.	.	.	.	.	.	.	.	G	25.8	4.672613	0.88348	.	.	ENSG00000066248	ENST00000264051;ENST00000373552;ENST00000541023;ENST00000539537;ENST00000416114;ENST00000458735;ENST00000409079	T;T;T;T;T;T	0.63913	-0.07;-0.07;-0.07;-0.07;-0.07;-0.07	5.22	5.22	0.72569	Dbl homology (DH) domain (5);	0.000000	0.85682	D	0.000000	T	0.76673	0.4020	L	0.53780	1.695	0.80722	D	1	D;D;D	0.89917	0.996;0.972;1.0	P;P;D	0.91635	0.889;0.698;0.999	T	0.78147	-0.2317	10	0.62326	D	0.03	-31.3689	18.7943	0.91988	0.0:0.0:1.0:0.0	.	194;194;286	E9PC42;B4DMB8;Q8N5V2	.;.;NGEF_HUMAN	V	286;194;176;9;9;9;194	ENSP00000264051:A286V;ENSP00000362653:A194V;ENSP00000439035:A9V;ENSP00000401063:A9V;ENSP00000412614:A9V;ENSP00000387033:A194V	ENSP00000264051:A286V	A	-	2	0	NGEF	233467842	1.000000	0.71417	1.000000	0.80357	0.478000	0.33099	6.208000	0.72165	2.440000	0.82611	0.655000	0.94253	GCG		0.582	NGEF-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000257051.2	XM_044799		31	46	0	0	0	1	0	31	46					A	233759598	G	A	233759598	3	1	435	1	0	0	0	0	1	0	0	0	10394	1087	38	1	1315	1	NGEF	2	233759598	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	3433	233759598	9439775	1581	22506											
INPP5D	3635	broad.mit.edu	37	chr2	233990468	233990468	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctccagtagaaagtgtcgtGtctccacccgagctgccccc	7	9	9	16	2	2	1	0	0	2	1	5	2	2	1	5	0	2	2	5	0	2	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:233990468G>A	ENST00000359570.5	+	4	363	c.363G>A	c.(361-363)gtG>gtA	p.V121V	INPP5D_ENST00000538935.1_Silent_p.V121V|INPP5D_ENST00000474278.1_3'UTR			Q92835	SHIP1_HUMAN	inositol polyphosphate-5-phosphatase, 145kDa	121					apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|determination of adult lifespan (GO:0008340)|immunoglobulin mediated immune response (GO:0016064)|inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|leukocyte migration (GO:0050900)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of bone resorption (GO:0045779)|negative regulation of immune response (GO:0050777)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|negative regulation of monocyte differentiation (GO:0045656)|negative regulation of neutrophil differentiation (GO:0045659)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of signal transduction (GO:0009968)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|positive regulation of apoptotic process (GO:0043065)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of erythrocyte differentiation (GO:0045648)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)	cytosol (GO:0005829)|membrane (GO:0016020)	inositol-polyphosphate 5-phosphatase activity (GO:0004445)|phosphatidylinositol trisphosphate phosphatase activity (GO:0034594)			central_nervous_system(1)|ovary(1)	2		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843)		Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185)		AAAGTGTCGTGTCTCCACCCG	0.602																																					NSCLC(82;1215 1426 16163 20348 41018)	ENST00000359570.5																			0				central_nervous_system(1)|ovary(1)	2						c.(361-363)gtG>gtA		inositol polyphosphate-5-phosphatase, 145kDa							32	37	35					2																	233990468		2183	4286	6469	SO:0001819	synonymous_variant	3635				apoptosis|blood coagulation|leukocyte migration|T cell receptor signaling pathway	cytosol	inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|SH3 domain binding	g.chr2:233990468G>A	U57650	CCDS74672.1	2q37.1	2013-02-14	2002-08-29		ENSG00000168918	ENSG00000168918		"SH2 domain containing"	6079	protein-coding gene	gene with protein product		601582	"inositol polyphosphate-5-phosphatase, 145kD"			8643691, 8874179	Standard	NM_001017915		Approved	SHIP, hp51CN	uc010zmp.2	Q92835	OTTHUMG00000133688	ENST00000359570.5:c.363G>A	2.37:g.233990468G>A						INPP5D_ENST00000538935.1_Silent_p.V121V|INPP5D_ENST00000474278.1_3'UTR	p.V121V			Q92835	SHIP1_HUMAN		Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185)	4	363	+		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843)	121					O00145|Q13544|Q13545|Q6P5A4|Q92656|Q9UE80	Silent	SNP	ENST00000359570.5	37	c.363G>A																																																																																					0.602	INPP5D-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001017915		3	7	0	0	0	1	0	3	7					A	233990468	G	A	233990468	2	1	435	1	0	0	0	0	0	0	0	1	7756	1364	48	3		3	INPP5D	2	233990468	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	230870	233990468	9208905	1582	22507											
INPP5D	3635	broad.mit.edu	37	chr2	234106794	234106794	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatcatcaaccccaactacaTgggagtggggccctttgggc	10	8	11	12	0	2	0	2	0	0	0	2	1	2	1	3	4	3	0	3	4	4	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:234106794T>C	ENST00000359570.5	+	27	2711	c.2711T>C	c.(2710-2712)aTg>aCg	p.M904T	INPP5D_ENST00000455936.2_Missense_Mutation_p.M668T|INPP5D_ENST00000450745.1_Missense_Mutation_p.M668T			Q92835	SHIP1_HUMAN	inositol polyphosphate-5-phosphatase, 145kDa	916					apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|determination of adult lifespan (GO:0008340)|immunoglobulin mediated immune response (GO:0016064)|inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|leukocyte migration (GO:0050900)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of bone resorption (GO:0045779)|negative regulation of immune response (GO:0050777)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|negative regulation of monocyte differentiation (GO:0045656)|negative regulation of neutrophil differentiation (GO:0045659)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of signal transduction (GO:0009968)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|positive regulation of apoptotic process (GO:0043065)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of erythrocyte differentiation (GO:0045648)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)	cytosol (GO:0005829)|membrane (GO:0016020)	inositol-polyphosphate 5-phosphatase activity (GO:0004445)|phosphatidylinositol trisphosphate phosphatase activity (GO:0034594)			central_nervous_system(1)|ovary(1)	2		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843)		Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185)		CCCAACTACATGGGAGTGGGG	0.622																																					NSCLC(82;1215 1426 16163 20348 41018)	ENST00000359570.5																			0				central_nervous_system(1)|ovary(1)	2						c.(2710-2712)aTg>aCg		inositol polyphosphate-5-phosphatase, 145kDa							23	26	25					2																	234106794		1974	4157	6131	SO:0001583	missense	3635				apoptosis|blood coagulation|leukocyte migration|T cell receptor signaling pathway	cytosol	inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|SH3 domain binding	g.chr2:234106794T>C	U57650	CCDS74672.1	2q37.1	2013-02-14	2002-08-29		ENSG00000168918	ENSG00000168918		"SH2 domain containing"	6079	protein-coding gene	gene with protein product		601582	"inositol polyphosphate-5-phosphatase, 145kD"			8643691, 8874179	Standard	NM_001017915		Approved	SHIP, hp51CN	uc010zmp.2	Q92835	OTTHUMG00000133688	ENST00000359570.5:c.2711T>C	2.37:g.234106794T>C	ENSP00000352575:p.Met904Thr					INPP5D_ENST00000455936.2_Missense_Mutation_p.M668T|INPP5D_ENST00000450745.1_Missense_Mutation_p.M668T	p.M904T			Q92835	SHIP1_HUMAN		Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185)	27	2711	+		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843)	916					O00145|Q13544|Q13545|Q6P5A4|Q92656|Q9UE80	Missense_Mutation	SNP	ENST00000359570.5	37	c.2711T>C		.	.	.	.	.	.	.	.	.	.	T	13.44	2.238766	0.39598	.	.	ENSG00000168918	ENST00000359570;ENST00000450745;ENST00000455936;ENST00000435188;ENST00000415617;ENST00000445964;ENST00000417661	D;D;D;D;D;D	0.96041	-3.84;-3.88;-3.88;-3.89;-3.89;-3.89	5.02	3.85	0.44370	.	0.469632	0.22163	N	0.063743	D	0.90950	0.7155	.	.	.	0.27326	N	0.956909	B;B	0.24823	0.066;0.112	B;B	0.24155	0.032;0.051	T	0.82532	-0.0410	9	0.33940	T	0.23	.	8.9125	0.35561	0.0:0.0855:0.0:0.9145	.	915;916	Q92835-2;Q92835	.;SHIP1_HUMAN	T	904;668;668;537;537;537;38	ENSP00000352575:M904T;ENSP00000407916:M668T;ENSP00000404610:M668T;ENSP00000400151:M537T;ENSP00000397421:M537T;ENSP00000405338:M537T	ENSP00000352575:M904T	M	+	2	0	INPP5D	233771533	1.000000	0.71417	0.992000	0.48379	0.975000	0.68041	4.039000	0.57325	0.853000	0.35312	0.533000	0.62120	ATG		0.622	INPP5D-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001017915		9	11	0	0	0	1	0	9	11					C	234106794	T	C	234106794	3	2	435	1	0	0	0	0	1	0	0	0	7756	1464	51	4	2353	4	INPP5D	2	234106794	Missense_Mutation	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	116326	234106794	9092579	1583	22508											
ATG16L1	55054	broad.mit.edu	37	chr2	234173549	234173549	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgcttccagaattgcagaatGtttgcagactatctctgacc	10	13	8	10	0	1	4	0	1	1	3	3	4	2	4	2	0	3	4	2	0	3	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:234173549G>A	ENST00000392017.4	+	5	658	c.401G>A	c.(400-402)tGt>tAt	p.C134Y	ATG16L1_ENST00000373525.5_Intron|ATG16L1_ENST00000347464.5_Intron|ATG16L1_ENST00000392020.4_Missense_Mutation_p.C134Y|ATG16L1_ENST00000392018.1_Missense_Mutation_p.C134Y	NM_001190266.1|NM_001190267.1|NM_030803.6	NP_001177195.1|NP_001177196.1|NP_110430.5	Q676U5	A16L1_HUMAN	autophagy related 16-like 1 (S. cerevisiae)	134					autophagic vacuole assembly (GO:0000045)|negative stranded viral RNA replication (GO:0039689)|protein homooligomerization (GO:0051260)|protein transport (GO:0015031)	autophagic vacuole (GO:0005776)|autophagic vacuole membrane (GO:0000421)|axoneme (GO:0005930)	identical protein binding (GO:0042802)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(7)|prostate(3)|skin(1)	25		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.0539)		Epithelial(121;1.53e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000379)|LUSC - Lung squamous cell carcinoma(224;0.00619)|Lung(119;0.00732)|GBM - Glioblastoma multiforme(43;0.11)		ATTGCAGAATGTTTGCAGACT	0.507																																						ENST00000392017.4																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(7)|prostate(3)|skin(1)	25						c.(400-402)tGt>tAt		autophagy related 16-like 1 (S. cerevisiae)							105	93	97					2																	234173549		2203	4300	6503	SO:0001583	missense	55054				autophagic vacuole assembly|protein homooligomerization|protein transport	autophagic vacuole|pre-autophagosomal structure membrane	protein binding	g.chr2:234173549G>A	AK000897	CCDS2502.2, CCDS2503.2, CCDS54438.1	2q37.1	2014-02-12	2012-06-06	2005-09-13	ENSG00000085978	ENSG00000085978		"WD repeat domain containing"	21498	protein-coding gene	gene with protein product		610767	"APG16 autophagy 16-like (S. cerevisiae)", "ATG16 autophagy related 16-like (S. cerevisiae)", "ATG16 autophagy related 16-like 1 (S. cerevisiae)"	APG16L, ATG16L			Standard	NM_017974		Approved	WDR30, FLJ10035, ATG16A	uc002vty.3	Q676U5	OTTHUMG00000133619	ENST00000392017.4:c.401G>A	2.37:g.234173549G>A	ENSP00000375872:p.Cys134Tyr					ATG16L1_ENST00000373525.5_Intron|ATG16L1_ENST00000392018.1_Missense_Mutation_p.C134Y|ATG16L1_ENST00000392020.4_Missense_Mutation_p.C134Y|ATG16L1_ENST00000347464.5_Intron	p.C134Y	NM_001190266.1|NM_001190267.1|NM_030803.6	NP_001177195.1|NP_001177196.1|NP_110430.5	Q676U5	A16L1_HUMAN		Epithelial(121;1.53e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000379)|LUSC - Lung squamous cell carcinoma(224;0.00619)|Lung(119;0.00732)|GBM - Glioblastoma multiforme(43;0.11)	5	658	+		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.0539)	134					A3EXK9|A3EXL0|B6ZDH0|Q6IPN1|Q6UXW4|Q6ZVZ5|Q8NCY2|Q96JV5|Q9H619	Missense_Mutation	SNP	ENST00000392017.4	37	c.401G>A	CCDS2503.2	.	.	.	.	.	.	.	.	.	.	G	2.763	-0.257525	0.05791	.	.	ENSG00000085978	ENST00000431917;ENST00000392017;ENST00000392020;ENST00000392018	T;T;T	0.44482	0.93;0.94;0.92	5.9	2.06	0.26882	Autophagy-related protein 16 (1);	2.178880	0.01898	N	0.039006	T	0.13072	0.0317	N	0.00408	-1.53	0.80722	D	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.11329	0.001;0.006;0.003	T	0.54964	-0.8214	10	0.02654	T	1	.	7.1739	0.25734	0.4742:0.0:0.5258:0.0	.	107;134;134	B7ZLM5;Q676U5-2;Q676U5	.;.;A16L1_HUMAN	Y	50;134;134;134	ENSP00000375872:C134Y;ENSP00000375875:C134Y;ENSP00000375873:C134Y	ENSP00000375872:C134Y	C	+	2	0	ATG16L1	233838288	0.996000	0.38824	0.709000	0.30452	0.950000	0.60333	2.685000	0.46959	0.818000	0.34468	0.563000	0.77884	TGT		0.507	ATG16L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257069.2	NM_017974		36	44	0	0	0	1	0	36	44					A	234173549	G	A	234173549	3	1	435	1	0	0	0	0	1	0	0	0	1091	1377	48	3	419	3	ATG16L1	2	234173549	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	66755	234173549	9025824	1584	22509											
DGKD	8527	broad.mit.edu	37	chr2	234350570	234350570	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtttgacacattccggattCtggtttgtggcggggatgga	7	13	15	6	2	1	1	0	1	1	0	2	4	2	4	1	6	0	2	1	6	0	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:234350570C>A	ENST00000264057.2	+	10	1135	c.1123C>A	c.(1123-1125)Ctg>Atg	p.L375M	DGKD_ENST00000409813.3_Missense_Mutation_p.L331M	NM_152879.2	NP_690618.2	Q16760	DGKD_HUMAN	diacylglycerol kinase, delta 130kDa	375	DAGKc. {ECO:0000255|PROSITE- ProRule:PRU00783}.				blood coagulation (GO:0007596)|cell growth (GO:0016049)|diacylglycerol metabolic process (GO:0046339)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|multicellular organismal development (GO:0007275)|platelet activation (GO:0030168)|protein homooligomerization (GO:0051260)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein transport (GO:0015031)|response to organic substance (GO:0010033)|second-messenger-mediated signaling (GO:0019932)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol binding (GO:0019992)|diacylglycerol kinase activity (GO:0004143)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(13)|lung(15)|ovary(1)|pancreas(1)|skin(1)	38		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0538)		Epithelial(121;1.31e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000416)|Lung(119;0.00285)|LUSC - Lung squamous cell carcinoma(224;0.00655)	Phosphatidylserine(DB00144)	ATTCCGGATTCTGGTTTGTGG	0.512																																						ENST00000264057.2																			0				central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(13)|lung(15)|ovary(1)|pancreas(1)|skin(1)	38						c.(1123-1125)Ctg>Atg		diacylglycerol kinase, delta 130kDa	Phosphatidylserine(DB00144)						132	125	128					2																	234350570		2203	4300	6503	SO:0001583	missense	8527				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell growth|diacylglycerol metabolic process|endocytosis|epidermal growth factor receptor signaling pathway|multicellular organismal development|platelet activation|protein homooligomerization|protein transport|response to organic substance|second-messenger-mediated signaling	cytoplasm|cytoplasmic membrane-bounded vesicle|plasma membrane	ATP binding|diacylglycerol binding|diacylglycerol kinase activity|metal ion binding|protein heterodimerization activity|protein homodimerization activity	g.chr2:234350570C>A	D63479	CCDS2504.1, CCDS46546.1	2q37	2013-01-10	2002-08-29		ENSG00000077044	ENSG00000077044		"Sterile alpha motif (SAM) domain containing", "Pleckstrin homology (PH) domain containing"	2851	protein-coding gene	gene with protein product	"diglyceride kinase"	601826	"diacylglycerol kinase, delta (130kD)"			8626538, 12810723	Standard	NM_003648		Approved	KIAA0145, DGKdelta	uc002vui.1	Q16760	OTTHUMG00000133290	ENST00000264057.2:c.1123C>A	2.37:g.234350570C>A	ENSP00000264057:p.Leu375Met					DGKD_ENST00000409813.3_Missense_Mutation_p.L331M	p.L375M	NM_152879.2	NP_690618.2	Q16760	DGKD_HUMAN		Epithelial(121;1.31e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000416)|Lung(119;0.00285)|LUSC - Lung squamous cell carcinoma(224;0.00655)	10	1135	+		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0538)	375			DAGKc.		Q14158|Q6PK55|Q8NG53	Missense_Mutation	SNP	ENST00000264057.2	37	c.1123C>A	CCDS2504.1	.	.	.	.	.	.	.	.	.	.	C	20.5	4.007447	0.75046	.	.	ENSG00000077044	ENST00000264057;ENST00000409813	T;T	0.49432	0.78;0.78	3.54	2.66	0.31614	Diacylglycerol kinase, catalytic domain (3);	0.000000	0.56097	D	0.000026	T	0.68146	0.2969	M	0.82823	2.61	0.58432	D	0.999996	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.97110	1.0;0.997;0.999	T	0.73161	-0.4070	10	0.87932	D	0	.	11.7848	0.52037	0.0:0.9116:0.0:0.0884	.	259;331;375	Q53SE4;Q16760-2;Q16760	.;.;DGKD_HUMAN	M	375;331	ENSP00000264057:L375M;ENSP00000386455:L331M	ENSP00000264057:L375M	L	+	1	2	DGKD	234015309	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	3.150000	0.50662	1.073000	0.40885	0.557000	0.71058	CTG		0.512	DGKD-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257072.2	NM_003648		24	44	1	0	3.62531e-18	1	3.99936e-18	24	44					A	234350570	C	A	234350570	3	1	435	1	0	0	0	0	1	0	0	0	4467	912	32	5	1185	5	DGKD	2	234350570	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	177021	234350570	8848803	1585	22510											
UGT1A9	54600	broad.mit.edu	37	chr2	234581137	234581137	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aggtgcacagtgccctgctcCtctttcctatgtccccagaa	7	11	8	15	0	1	1	0	0	1	1	4	1	4	1	5	1	3	2	5	1	2	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:234581137C>A	ENST00000354728.4	+	1	639	c.557C>A	c.(556-558)cCt>cAt	p.P186H	UGT1A1_ENST00000373450.4_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A1_ENST00000609637.1_Missense_Mutation_p.P186H			O60656	UD19_HUMAN	UDP glucuronosyltransferase 1 family, polypeptide A9	186					cellular glucuronidation (GO:0052695)|cellular lipid metabolic process (GO:0044255)|drug metabolic process (GO:0017144)|flavone metabolic process (GO:0051552)|flavonoid glucuronidation (GO:0052696)|metabolic process (GO:0008152)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cellular glucuronidation (GO:2001030)|negative regulation of fatty acid metabolic process (GO:0045922)|retinoic acid metabolic process (GO:0042573)|small molecule metabolic process (GO:0044281)|xenobiotic glucuronidation (GO:0052697)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|glucuronosyltransferase activity (GO:0015020)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|retinoic acid binding (GO:0001972)			breast(2)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	37		Breast(86;0.000766)|all_lung(227;0.00269)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0331)|Lung NSC(271;0.0459)|Lung SC(224;0.128)		Epithelial(121;1.26e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000436)|Lung(119;0.00347)|LUSC - Lung squamous cell carcinoma(224;0.00757)	Acetaminophen(DB00316)|Buprenorphine(DB00921)|Canagliflozin(DB08907)|Dabigatran etexilate(DB06695)|Dapagliflozin(DB06292)|Entacapone(DB00494)|Etodolac(DB00749)|Ezogabine(DB04953)|Flurbiprofen(DB00712)|Haloperidol(DB00502)|Human Serum Albumin(DB00062)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Indomethacin(DB00328)|Irinotecan(DB00762)|Ketobemidone(DB06738)|Lumiracoxib(DB01283)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Nateglinide(DB00731)|Niflumic Acid(DB04552)|Oxazepam(DB00842)|Propofol(DB00818)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sulfamethoxazole(DB01015)|Tapentadol(DB06204)|Valproic Acid(DB00313)|Zileuton(DB00744)	TGCCCTGCTCCTCTTTCCTAT	0.473																																						ENST00000354728.4																			0				breast(2)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	37						c.(556-558)cCt>cAt									161	166	165					2																	234581137		2203	4300	6503	SO:0001583	missense	0							g.chr2:234581137C>A	AF056188	CCDS2505.1	2q37	2010-03-05	2005-07-20		ENSG00000241119	ENSG00000241119		"UDP glucuronosyltransferases"	12541	other	complex locus constituent		606434	"UDP glycosyltransferase 1 family, polypeptide A9"			9295054, 1910331	Standard	NM_021027		Approved	HLUGP4, LUGP4, UGT1AI		O60656	OTTHUMG00000059124	ENST00000354728.4:c.557C>A	2.37:g.234581137C>A	ENSP00000346768:p.Pro186His					UGT1A10_ENST00000344644.5_Intron|UGT1A8_ENST00000373450.4_Intron|UGT1A10_ENST00000373445.1_Intron	p.P186H	NM_021027.2	NP_066307.1				Epithelial(121;1.26e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000436)|Lung(119;0.00347)|LUSC - Lung squamous cell carcinoma(224;0.00757)	1	639	+		Breast(86;0.000766)|all_lung(227;0.00269)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0331)|Lung NSC(271;0.0459)|Lung SC(224;0.128)						B8K285|P36509|Q9HAX0	Missense_Mutation	SNP	ENST00000354728.4	37	c.557C>A	CCDS2505.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.984957	0.74474	.	.	ENSG00000241119	ENST00000354728	T	0.62788	-0.0	3.41	2.51	0.30379	.	.	.	.	.	D	0.82774	0.5110	H	0.94698	3.57	0.29931	N	0.821864	D;D	0.76494	0.999;0.999	D;D	0.73380	0.98;0.98	T	0.79349	-0.1840	9	0.87932	D	0	.	11.2764	0.49170	0.0:0.9061:0.0:0.0939	.	186;186	Q5DSZ5;O60656	.;UD19_HUMAN	H	186	ENSP00000346768:P186H	ENSP00000346768:P186H	P	+	2	0	UGT1A9	234245876	0.991000	0.36638	0.005000	0.12908	0.544000	0.35116	4.628000	0.61282	0.737000	0.32582	0.440000	0.28878	CCT		0.473	UGT1A9-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000130995.1	NM_021027		7	166	1	0	1.06961e-07	1	1.12439e-07	7	166					A	234581137	C	A	234581137	3	1	435	1	0	0	0	0	1	0	0	0	16949	681	24	5	559	5	UGT1A9	2	234581137	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	230567	234581137	8618236	1586	22511											
MSL3L2	151507	broad.mit.edu	37	chr2	234774971	234774971	+	RNA	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tggaagtttgacaaacaatcGcagcaaatgttgcgccccgt	12	9	10	10	3	0	1	0	1	0	0	1	2	0	2	2	1	3	4	2	1	4	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:234774971G>A	ENST00000438684.1	-	0	1143					NR_024322.1		P0C860	MS3L2_HUMAN	male-specific lethal 3 homolog (Drosophila) pseudogene 1						chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)											ACAAACAATCGCAGCAAATGT	0.433																																						ENST00000438684.1																			0																				128	107	114					2																	234774971		692	1591	2283			0							g.chr2:234774971G>A	BI831020		2q37.1	2011-03-21	2011-03-21	2011-03-21	ENSG00000224287	ENSG00000224287			17837	pseudogene	pseudogene			"male-specific lethal 3-like 2 (Drosophila)"	MSL3L2			Standard	NR_024322		Approved		uc010znf.2	P0C860	OTTHUMG00000059126		2.37:g.234774971G>A								NR_024322.1						0	1143	-									RNA	SNP	ENST00000438684.1	37																																																																																						0.433	MSL3P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000131002.2	NR_024322		16	58	0	0	0	1	0	16	58					A	234774971	G	A	234774971	1	1	435	0	1	0	0	0	0	0	0	0	9880	1095	38	1		1	MSL3L2	2	234774971	RNA	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	193834	234774971	8424402	1587	22512											
SH3BP4	23677	broad.mit.edu	37	chr2	235943651	235943651	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaagcgagtttcgagatggCggctcagcggatccgagcgg	8	6	18	9	6	1	1	1	0	0	1	3	6	2	3	1	5	3	2	1	5	1	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:235943651C>T	ENST00000409212.1	+	3	512	c.5C>T	c.(4-6)gCg>gTg	p.A2V	SH3BP4_ENST00000344528.4_Missense_Mutation_p.A2V|SH3BP4_ENST00000392011.2_Missense_Mutation_p.A2V			Q9P0V3	SH3B4_HUMAN	SH3-domain binding protein 4	2					cellular response to amino acid stimulus (GO:0071230)|endocytosis (GO:0006897)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of GTPase activity (GO:0034260)|negative regulation of TOR signaling (GO:0032007)|positive regulation of autophagy (GO:0010508)|protein localization to lysosome (GO:0061462)|regulation of catalytic activity (GO:0050790)	coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	GDP-dissociation inhibitor activity (GO:0005092)|identical protein binding (GO:0042802)|Ras GTPase binding (GO:0017016)			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(6)|stomach(3)|urinary_tract(2)	44		Breast(86;0.000332)|Renal(207;0.00339)|all_lung(227;0.00458)|all_hematologic(139;0.0296)|Lung NSC(271;0.0419)		Epithelial(121;7.66e-20)|BRCA - Breast invasive adenocarcinoma(100;0.000402)|Lung(119;0.00299)|LUSC - Lung squamous cell carcinoma(224;0.00645)|GBM - Glioblastoma multiforme(43;0.237)		TTCGAGATGGCGGCTCAGCGG	0.557																																						ENST00000409212.1																			0				central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(6)|stomach(3)|urinary_tract(2)	44						c.(4-6)gCg>gTg		SH3-domain binding protein 4							36	40	39					2																	235943651		2203	4300	6503	SO:0001583	missense	23677				endocytosis	clathrin-coated vesicle|coated pit|nucleus	protein binding	g.chr2:235943651C>T	AF147747	CCDS2513.1	2q37.1-q37.2	2008-05-15			ENSG00000130147	ENSG00000130147			10826	protein-coding gene	gene with protein product		605611				10644451	Standard	NM_014521		Approved		uc002vvp.3	Q9P0V3	OTTHUMG00000133292	ENST00000409212.1:c.5C>T	2.37:g.235943651C>T	ENSP00000386862:p.Ala2Val					SH3BP4_ENST00000344528.4_Missense_Mutation_p.A2V|SH3BP4_ENST00000392011.2_Missense_Mutation_p.A2V	p.A2V			Q9P0V3	SH3B4_HUMAN		Epithelial(121;7.66e-20)|BRCA - Breast invasive adenocarcinoma(100;0.000402)|Lung(119;0.00299)|LUSC - Lung squamous cell carcinoma(224;0.00645)|GBM - Glioblastoma multiforme(43;0.237)	3	512	+		Breast(86;0.000332)|Renal(207;0.00339)|all_lung(227;0.00458)|all_hematologic(139;0.0296)|Lung NSC(271;0.0419)	2					O95082|Q309A3|Q53QD0|Q53TD1	Missense_Mutation	SNP	ENST00000409212.1	37	c.5C>T	CCDS2513.1	.	.	.	.	.	.	.	.	.	.	C	34	5.308596	0.95629	.	.	ENSG00000130147	ENST00000392011;ENST00000420127;ENST00000416021;ENST00000409212;ENST00000344528;ENST00000444916;ENST00000446904;ENST00000454947	T;T;T;T;T	0.39056	2.52;1.13;2.52;2.52;1.1	4.91	4.91	0.64330	.	0.000000	0.85682	D	0.000000	T	0.53916	0.1826	L	0.34521	1.04	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.80764	0.994;0.994	T	0.58183	-0.7681	10	0.87932	D	0	-25.6327	15.6121	0.76733	0.0:1.0:0.0:0.0	.	2;2	A8K594;Q9P0V3	.;SH3B4_HUMAN	V	2	ENSP00000375867:A2V;ENSP00000403251:A2V;ENSP00000386862:A2V;ENSP00000340237:A2V;ENSP00000415391:A2V	ENSP00000340237:A2V	A	+	2	0	SH3BP4	235608390	1.000000	0.71417	0.996000	0.52242	0.892000	0.51952	7.077000	0.76814	2.275000	0.75901	0.655000	0.94253	GCG		0.557	SH3BP4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329763.1			12	11	0	0	0	1	0	12	11					T	235943651	C	T	235943651	3	4	435	1	0	0	0	0	1	0	0	0	14246	768	27	1	7	1	SH3BP4	2	235943651	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	1168680	235943651	7255722	1588	22513											
SH3BP4	23677	broad.mit.edu	37	chr2	235943706	235943706	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctccctcgctgcaagtcagaGgggaccctgattgacctgag	8	8	12	13	1	1	4	1	3	0	1	3	5	2	5	3	2	1	2	3	2	1	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:235943706G>T	ENST00000409212.1	+	3	567	c.60G>T	c.(58-60)gaG>gaT	p.E20D	SH3BP4_ENST00000344528.4_Missense_Mutation_p.E20D|SH3BP4_ENST00000392011.2_Missense_Mutation_p.E20D			Q9P0V3	SH3B4_HUMAN	SH3-domain binding protein 4	20					cellular response to amino acid stimulus (GO:0071230)|endocytosis (GO:0006897)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of GTPase activity (GO:0034260)|negative regulation of TOR signaling (GO:0032007)|positive regulation of autophagy (GO:0010508)|protein localization to lysosome (GO:0061462)|regulation of catalytic activity (GO:0050790)	coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	GDP-dissociation inhibitor activity (GO:0005092)|identical protein binding (GO:0042802)|Ras GTPase binding (GO:0017016)			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(6)|stomach(3)|urinary_tract(2)	44		Breast(86;0.000332)|Renal(207;0.00339)|all_lung(227;0.00458)|all_hematologic(139;0.0296)|Lung NSC(271;0.0419)		Epithelial(121;7.66e-20)|BRCA - Breast invasive adenocarcinoma(100;0.000402)|Lung(119;0.00299)|LUSC - Lung squamous cell carcinoma(224;0.00645)|GBM - Glioblastoma multiforme(43;0.237)		GCAAGTCAGAGGGGACCCTGA	0.557																																						ENST00000409212.1																			0				central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(6)|stomach(3)|urinary_tract(2)	44						c.(58-60)gaG>gaT		SH3-domain binding protein 4							60	62	61					2																	235943706		2203	4300	6503	SO:0001583	missense	23677				endocytosis	clathrin-coated vesicle|coated pit|nucleus	protein binding	g.chr2:235943706G>T	AF147747	CCDS2513.1	2q37.1-q37.2	2008-05-15			ENSG00000130147	ENSG00000130147			10826	protein-coding gene	gene with protein product		605611				10644451	Standard	NM_014521		Approved		uc002vvp.3	Q9P0V3	OTTHUMG00000133292	ENST00000409212.1:c.60G>T	2.37:g.235943706G>T	ENSP00000386862:p.Glu20Asp					SH3BP4_ENST00000344528.4_Missense_Mutation_p.E20D|SH3BP4_ENST00000392011.2_Missense_Mutation_p.E20D	p.E20D			Q9P0V3	SH3B4_HUMAN		Epithelial(121;7.66e-20)|BRCA - Breast invasive adenocarcinoma(100;0.000402)|Lung(119;0.00299)|LUSC - Lung squamous cell carcinoma(224;0.00645)|GBM - Glioblastoma multiforme(43;0.237)	3	567	+		Breast(86;0.000332)|Renal(207;0.00339)|all_lung(227;0.00458)|all_hematologic(139;0.0296)|Lung NSC(271;0.0419)	20					O95082|Q309A3|Q53QD0|Q53TD1	Missense_Mutation	SNP	ENST00000409212.1	37	c.60G>T	CCDS2513.1	.	.	.	.	.	.	.	.	.	.	G	26.9	4.778883	0.90195	.	.	ENSG00000130147	ENST00000392011;ENST00000420127;ENST00000416021;ENST00000409212;ENST00000344528;ENST00000444916;ENST00000446904;ENST00000454947	T;T;T;T;T	0.33438	2.75;1.41;2.75;2.75;1.56	4.91	4.01	0.46588	.	0.000000	0.85682	D	0.000000	T	0.41328	0.1154	L	0.34521	1.04	0.58432	D	0.999995	D;D	0.65815	0.995;0.995	D;D	0.69824	0.966;0.957	T	0.30592	-0.9973	10	0.72032	D	0.01	-47.798	11.481	0.50326	0.0907:0.0:0.9092:0.0	.	20;20	A8K594;Q9P0V3	.;SH3B4_HUMAN	D	20	ENSP00000375867:E20D;ENSP00000403251:E20D;ENSP00000386862:E20D;ENSP00000340237:E20D;ENSP00000415391:E20D	ENSP00000340237:E20D	E	+	3	2	SH3BP4	235608445	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	4.916000	0.63362	2.275000	0.75901	0.655000	0.94253	GAG		0.557	SH3BP4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329763.1			14	21	1	0	1.49906e-05	1	1.54943e-05	14	21					T	235943706	G	T	235943706	3	4	435	1	0	0	0	0	1	0	0	0	14246	991	35	5	62	5	SH3BP4	2	235943706	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	55	235943706	7255667	1589	22514											
SH3BP4	23677	broad.mit.edu	37	chr2	235951390	235951390	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtgtccagcctcaagtttggTaagttgctcaagactgtggt	8	13	12	8	0	2	1	2	0	0	1	3	1	3	1	2	2	2	4	2	2	3	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:235951390T>C	ENST00000409212.1	+	4	2484	c.1977T>C	c.(1975-1977)ggT>ggC	p.G659G	SH3BP4_ENST00000344528.4_Silent_p.G659G|SH3BP4_ENST00000392011.2_Silent_p.G659G			Q9P0V3	SH3B4_HUMAN	SH3-domain binding protein 4	659					cellular response to amino acid stimulus (GO:0071230)|endocytosis (GO:0006897)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of GTPase activity (GO:0034260)|negative regulation of TOR signaling (GO:0032007)|positive regulation of autophagy (GO:0010508)|protein localization to lysosome (GO:0061462)|regulation of catalytic activity (GO:0050790)	coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	GDP-dissociation inhibitor activity (GO:0005092)|identical protein binding (GO:0042802)|Ras GTPase binding (GO:0017016)			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(6)|stomach(3)|urinary_tract(2)	44		Breast(86;0.000332)|Renal(207;0.00339)|all_lung(227;0.00458)|all_hematologic(139;0.0296)|Lung NSC(271;0.0419)		Epithelial(121;7.66e-20)|BRCA - Breast invasive adenocarcinoma(100;0.000402)|Lung(119;0.00299)|LUSC - Lung squamous cell carcinoma(224;0.00645)|GBM - Glioblastoma multiforme(43;0.237)		TCAAGTTTGGTAAGTTGCTCA	0.567																																						ENST00000409212.1																			0				central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(6)|stomach(3)|urinary_tract(2)	44						c.(1975-1977)ggT>ggC		SH3-domain binding protein 4							69	74	72					2																	235951390		2203	4300	6503	SO:0001819	synonymous_variant	23677				endocytosis	clathrin-coated vesicle|coated pit|nucleus	protein binding	g.chr2:235951390T>C	AF147747	CCDS2513.1	2q37.1-q37.2	2008-05-15			ENSG00000130147	ENSG00000130147			10826	protein-coding gene	gene with protein product		605611				10644451	Standard	NM_014521		Approved		uc002vvp.3	Q9P0V3	OTTHUMG00000133292	ENST00000409212.1:c.1977T>C	2.37:g.235951390T>C						SH3BP4_ENST00000344528.4_Silent_p.G659G|SH3BP4_ENST00000392011.2_Silent_p.G659G	p.G659G			Q9P0V3	SH3B4_HUMAN		Epithelial(121;7.66e-20)|BRCA - Breast invasive adenocarcinoma(100;0.000402)|Lung(119;0.00299)|LUSC - Lung squamous cell carcinoma(224;0.00645)|GBM - Glioblastoma multiforme(43;0.237)	4	2484	+		Breast(86;0.000332)|Renal(207;0.00339)|all_lung(227;0.00458)|all_hematologic(139;0.0296)|Lung NSC(271;0.0419)	659					O95082|Q309A3|Q53QD0|Q53TD1	Silent	SNP	ENST00000409212.1	37	c.1977T>C	CCDS2513.1																																																																																				0.567	SH3BP4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329763.1			11	33	0	0	0	1	0	11	33					C	235951390	T	C	235951390	2	2	435	1	0	0	0	0	0	0	0	1	14246	1625	57	4		4	SH3BP4	2	235951390	Silent	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	7684	235951390	7247983	1590	22515											
GBX2	2637	broad.mit.edu	37	chr2	237074856	237074856	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctggtgaaggcagtccgccGccgccggttcttgcccgtag	4	8	15	14	5	1	1	0	1	1	0	2	1	2	1	5	3	1	4	5	3	2	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:237074856G>A	ENST00000306318.4	-	2	1145	c.748C>T	c.(748-750)Cgg>Tgg	p.R250W	GBX2_ENST00000551105.1_3'UTR|AC079135.1_ENST00000415226.1_RNA|GBX2_ENST00000465889.1_5'UTR|AC079135.1_ENST00000483218.1_RNA	NM_001485.2	NP_001476.2	P52951	GBX2_HUMAN	gastrulation brain homeobox 2	250	Poly-Arg.				autonomic nervous system development (GO:0048483)|axon guidance (GO:0007411)|cerebellar granule cell precursor proliferation (GO:0021930)|cerebellum development (GO:0021549)|forebrain neuron development (GO:0021884)|inner ear morphogenesis (GO:0042472)|midbrain-hindbrain boundary morphogenesis (GO:0021555)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|patterning of blood vessels (GO:0001569)|rhombomere 2 development (GO:0021568)|thalamus development (GO:0021794)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	7		Breast(86;0.00235)|Renal(207;0.00339)|all_hematologic(139;0.00357)|all_lung(227;0.0616)|Acute lymphoblastic leukemia(138;0.0775)|Ovarian(221;0.089)|Lung NSC(271;0.179)		Epithelial(121;4.5e-25)|OV - Ovarian serous cystadenocarcinoma(60;5.16e-11)|BRCA - Breast invasive adenocarcinoma(100;3.4e-05)|Lung(119;0.00195)|LUSC - Lung squamous cell carcinoma(224;0.00471)		GCAGTCCGCCGCCGCCGGTTC	0.677																																						ENST00000306318.4																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	7						c.(748-750)Cgg>Tgg		gastrulation brain homeobox 2							26	32	30					2																	237074856		2202	4296	6498	SO:0001583	missense	2637					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:237074856G>A	AF118452	CCDS2515.1	2q37.2	2012-03-09	2005-12-22		ENSG00000168505	ENSG00000168505		"Homeoboxes / ANTP class : HOXL subclass"	4186	protein-coding gene	gene with protein product		601135	"gastrulation brain homeo box 2"			9346236, 8838315	Standard	XM_005246071		Approved		uc002vvw.1	P52951	OTTHUMG00000133294	ENST00000306318.4:c.748C>T	2.37:g.237074856G>A	ENSP00000302251:p.Arg250Trp					GBX2_ENST00000465889.1_5'UTR|GBX2_ENST00000551105.1_3'UTR	p.R250W	NM_001485.2	NP_001476.2	P52951	GBX2_HUMAN		Epithelial(121;4.5e-25)|OV - Ovarian serous cystadenocarcinoma(60;5.16e-11)|BRCA - Breast invasive adenocarcinoma(100;3.4e-05)|Lung(119;0.00195)|LUSC - Lung squamous cell carcinoma(224;0.00471)	2	1145	-		Breast(86;0.00235)|Renal(207;0.00339)|all_hematologic(139;0.00357)|all_lung(227;0.0616)|Acute lymphoblastic leukemia(138;0.0775)|Ovarian(221;0.089)|Lung NSC(271;0.179)	250			Poly-Arg.		B2RPH7|O43833|Q53RX5|Q9Y5Y1	Missense_Mutation	SNP	ENST00000306318.4	37	c.748C>T	CCDS2515.1	.	.	.	.	.	.	.	.	.	.	G	18.41	3.618475	0.66787	.	.	ENSG00000168505	ENST00000306318	D	0.96459	-4.02	4.42	3.42	0.39159	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	D	0.97108	0.9055	L	0.55213	1.73	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97456	1.0031	10	0.72032	D	0.01	-17.8624	14.2498	0.66011	0.0:0.0:0.7416:0.2584	.	250	P52951	GBX2_HUMAN	W	250	ENSP00000302251:R250W	ENSP00000302251:R250W	R	-	1	2	GBX2	236739595	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	0.623000	0.24447	2.013000	0.59113	0.561000	0.74099	CGG		0.677	GBX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257078.3	NM_001485		16	27	0	0	0	1	0	16	27					A	237074856	G	A	237074856	3	1	435	1	0	0	0	0	1	0	0	0	6281	1086	38	1	302	1	GBX2	2	237074856	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	1123466	237074856	6124517	1591	22516											
CXCR7	57007	broad.mit.edu	37	chr2	237489379	237489379	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaacctggccattgccgacCtgtgggttgtcctcaccatc	6	11	10	14	1	1	1	1	1	0	0	3	2	2	1	6	2	2	1	6	2	1	2	rs145205829		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:237489379C>T	ENST00000272928.3	+	2	581	c.271C>T	c.(271-273)Ctg>Ttg	p.L91L		NM_020311.2	NP_064707.1	P25106	ACKR3_HUMAN	atypical chemokine receptor 3	91					angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902230)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|receptor internalization (GO:0031623)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cell surface (GO:0009986)|coated pit (GO:0005905)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	C-X-C chemokine binding (GO:0019958)|C-X-C chemokine receptor activity (GO:0016494)|coreceptor activity (GO:0015026)|scavenger receptor activity (GO:0005044)										CATTGCCGACCTGTGGGTTGT	0.572																																						ENST00000272928.3																			0											c.(271-273)Ctg>Ttg		atypical chemokine receptor 3							161	141	148					2																	237489379		2203	4300	6503	SO:0001819	synonymous_variant	57007							g.chr2:237489379C>T	BC008459	CCDS2516.1	2q37.3	2013-07-17	2013-07-16	2013-07-16	ENSG00000144476	ENSG00000144476		"CD molecules", "GPCR / Class A : Chemokine receptors : Atypical"	23692	protein-coding gene	gene with protein product		610376	"chemokine orphan receptor 1", "chemokine (C-X-C motif) receptor 7"	CMKOR1, CXCR7		16107333, 16148	Standard	NM_020311		Approved	RDC1, GPR159	uc002vwd.3	P25106	OTTHUMG00000133295	ENST00000272928.3:c.271C>T	2.37:g.237489379C>T							p.L91L	NM_020311.2	NP_064707.1					2	581	+								A8K6J4|Q53RV4|Q8NE10|Q92938|Q92986	Silent	SNP	ENST00000272928.3	37	c.271C>T	CCDS2516.1																																																																																				0.572	ACKR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257079.2	NM_020311		20	30	0	0	0	1	0	20	30					T	237489379	C	T	237489379	2	4	435	1	0	0	0	0	0	0	0	1	4096	680	24	3		3	CXCR7	2	237489379	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	414523	237489379	5709994	1592	22517											
COPS8	10920	broad.mit.edu	37	chr2	238002748	238002748	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatagatgcaacaaggagacGcgcctttgccctggtctctc	10	9	10	12	2	1	2	0	0	1	2	3	3	1	2	2	2	3	1	2	2	4	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:238002748G>A	ENST00000354371.2	+	5	1000	c.347G>A	c.(346-348)cGc>cAc	p.R116H	COPS8_ENST00000409629.1_Missense_Mutation_p.R116H|COPS8_ENST00000392008.2_Missense_Mutation_p.R67H|COPS8_ENST00000409334.1_Intron	NM_006710.4	NP_006701.1	Q99627	CSN8_HUMAN	COP9 signalosome subunit 8	116	PCI.				activation of NF-kappaB-inducing kinase activity (GO:0007250)|cullin deneddylation (GO:0010388)|negative regulation of cell proliferation (GO:0008285)	COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)				large_intestine(1)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	4		Breast(86;0.000162)|Renal(207;0.00339)|all_hematologic(139;0.0123)|Ovarian(221;0.0694)|Acute lymphoblastic leukemia(138;0.0775)|all_lung(227;0.169)|all_neural(83;0.211)		Epithelial(121;7.41e-23)|OV - Ovarian serous cystadenocarcinoma(60;5.42e-11)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.98e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000175)|Lung(119;0.011)|LUSC - Lung squamous cell carcinoma(224;0.0258)		ACAAGGAGACGCGCCTTTGCC	0.473																																						ENST00000354371.2																			0				large_intestine(1)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	4						c.(346-348)cGc>cAc		COP9 signalosome subunit 8							179	150	160					2																	238002748		2203	4300	6503	SO:0001583	missense	10920				cullin deneddylation	cytoplasm|signalosome		g.chr2:238002748G>A		CCDS2517.1, CCDS42835.1	2q37.3	2013-03-14	2013-03-14		ENSG00000198612	ENSG00000198612			24335	protein-coding gene	gene with protein product			"COP9 constitutive photomorphogenic homolog subunit 8 (Arabidopsis)"			7634324, 12732143	Standard	NM_006710		Approved	COP9, CSN8, MGC1297, SGN8	uc002vwh.3	Q99627	OTTHUMG00000133297	ENST00000354371.2:c.347G>A	2.37:g.238002748G>A	ENSP00000346340:p.Arg116His					COPS8_ENST00000409629.1_Missense_Mutation_p.R116H|COPS8_ENST00000409334.1_Intron|COPS8_ENST00000392008.2_Missense_Mutation_p.R67H	p.R116H	NM_006710.4	NP_006701.1	Q99627	CSN8_HUMAN		Epithelial(121;7.41e-23)|OV - Ovarian serous cystadenocarcinoma(60;5.42e-11)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.98e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000175)|Lung(119;0.011)|LUSC - Lung squamous cell carcinoma(224;0.0258)	5	1000	+		Breast(86;0.000162)|Renal(207;0.00339)|all_hematologic(139;0.0123)|Ovarian(221;0.0694)|Acute lymphoblastic leukemia(138;0.0775)|all_lung(227;0.169)|all_neural(83;0.211)	116			PCI.		A8K1H6|Q53QS9	Missense_Mutation	SNP	ENST00000354371.2	37	c.347G>A	CCDS2517.1	.	.	.	.	.	.	.	.	.	.	G	32	5.185872	0.94885	.	.	ENSG00000198612	ENST00000354371;ENST00000392008;ENST00000409629	.	.	.	5.29	5.29	0.74685	.	0.000000	0.85682	D	0.000000	T	0.77519	0.4142	M	0.82193	2.58	0.80722	D	1	D;D	0.71674	0.992;0.998	P;P	0.55871	0.786;0.786	T	0.81510	-0.0900	9	0.66056	D	0.02	.	17.9324	0.89002	0.0:0.0:1.0:0.0	.	116;116	B8ZZP3;Q99627	.;CSN8_HUMAN	H	116;67;116	.	ENSP00000346340:R116H	R	+	2	0	COPS8	237667487	1.000000	0.71417	0.231000	0.23993	0.983000	0.72400	9.047000	0.93823	2.466000	0.83321	0.591000	0.81541	CGC		0.473	COPS8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257082.3	NM_006710		53	56	0	0	0	1	0	53	56					A	238002748	G	A	238002748	3	1	435	1	0	0	0	0	1	0	0	0	3740	1087	38	1	365	1	COPS8	2	238002748	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	513369	238002748	5196625	1593	22518											
COPS8	10920	broad.mit.edu	37	chr2	238002835	238002835	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acttcctgtagaagaggctgTgaaaggtaattttggcttac	11	13	11	6	0	0	3	0	1	0	2	1	3	1	3	1	3	1	4	1	3	5	6			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:238002835T>C	ENST00000354371.2	+	5	1087	c.434T>C	c.(433-435)gTg>gCg	p.V145A	COPS8_ENST00000409629.1_Missense_Mutation_p.V145A|COPS8_ENST00000392008.2_Missense_Mutation_p.V96A|COPS8_ENST00000409334.1_Intron	NM_006710.4	NP_006701.1	Q99627	CSN8_HUMAN	COP9 signalosome subunit 8	145	PCI.				activation of NF-kappaB-inducing kinase activity (GO:0007250)|cullin deneddylation (GO:0010388)|negative regulation of cell proliferation (GO:0008285)	COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)				large_intestine(1)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	4		Breast(86;0.000162)|Renal(207;0.00339)|all_hematologic(139;0.0123)|Ovarian(221;0.0694)|Acute lymphoblastic leukemia(138;0.0775)|all_lung(227;0.169)|all_neural(83;0.211)		Epithelial(121;7.41e-23)|OV - Ovarian serous cystadenocarcinoma(60;5.42e-11)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.98e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000175)|Lung(119;0.011)|LUSC - Lung squamous cell carcinoma(224;0.0258)		GAAGAGGCTGTGAAAGGTAAT	0.418																																						ENST00000354371.2																			0				large_intestine(1)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	4						c.(433-435)gTg>gCg		COP9 signalosome subunit 8							121	108	112					2																	238002835		2203	4300	6503	SO:0001583	missense	10920				cullin deneddylation	cytoplasm|signalosome		g.chr2:238002835T>C		CCDS2517.1, CCDS42835.1	2q37.3	2013-03-14	2013-03-14		ENSG00000198612	ENSG00000198612			24335	protein-coding gene	gene with protein product			"COP9 constitutive photomorphogenic homolog subunit 8 (Arabidopsis)"			7634324, 12732143	Standard	NM_006710		Approved	COP9, CSN8, MGC1297, SGN8	uc002vwh.3	Q99627	OTTHUMG00000133297	ENST00000354371.2:c.434T>C	2.37:g.238002835T>C	ENSP00000346340:p.Val145Ala					COPS8_ENST00000409629.1_Missense_Mutation_p.V145A|COPS8_ENST00000409334.1_Intron|COPS8_ENST00000392008.2_Missense_Mutation_p.V96A	p.V145A	NM_006710.4	NP_006701.1	Q99627	CSN8_HUMAN		Epithelial(121;7.41e-23)|OV - Ovarian serous cystadenocarcinoma(60;5.42e-11)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.98e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000175)|Lung(119;0.011)|LUSC - Lung squamous cell carcinoma(224;0.0258)	5	1087	+		Breast(86;0.000162)|Renal(207;0.00339)|all_hematologic(139;0.0123)|Ovarian(221;0.0694)|Acute lymphoblastic leukemia(138;0.0775)|all_lung(227;0.169)|all_neural(83;0.211)	145			PCI.		A8K1H6|Q53QS9	Missense_Mutation	SNP	ENST00000354371.2	37	c.434T>C	CCDS2517.1	.	.	.	.	.	.	.	.	.	.	T	14.86	2.660303	0.47572	.	.	ENSG00000198612	ENST00000354371;ENST00000392008;ENST00000409629	.	.	.	5.29	5.29	0.74685	.	0.000000	0.85682	D	0.000000	T	0.51210	0.1661	L	0.41492	1.28	0.80722	D	1	B;B	0.10296	0.003;0.001	B;B	0.12156	0.007;0.007	T	0.46707	-0.9172	9	0.10902	T	0.67	.	14.4226	0.67193	0.0:0.0:0.0:1.0	.	145;145	B8ZZP3;Q99627	.;CSN8_HUMAN	A	145;96;145	.	ENSP00000346340:V145A	V	+	2	0	COPS8	237667574	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	7.382000	0.79729	1.997000	0.58415	0.482000	0.46254	GTG		0.418	COPS8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257082.3	NM_006710		27	50	0	0	0	1	0	27	50					C	238002835	T	C	238002835	3	2	435	1	0	0	0	0	1	0	0	0	3740	1696	59	4	452	4	COPS8	2	238002835	Missense_Mutation	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	87	238002835	5196538	1594	22519											
COL6A3	1293	broad.mit.edu	37	chr2	238256467	238256467	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tacccttcggcctctgatgcCtttgggtcctgttgttccat	3	16	9	13	1	1	1	0	1	1	0	4	1	3	1	5	2	2	2	5	2	1	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:238256467C>A	ENST00000295550.4	-	31	7464	c.7012G>T	c.(7012-7014)Ggc>Tgc	p.G2338C	COL6A3_ENST00000346358.4_Missense_Mutation_p.G2138C|COL6A3_ENST00000347401.3_Missense_Mutation_p.G2137C|COL6A3_ENST00000409809.1_Missense_Mutation_p.G2132C|COL6A3_ENST00000472056.1_Missense_Mutation_p.G1731C|COL6A3_ENST00000353578.4_Missense_Mutation_p.G2132C	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	2338	Collagen-like 5.|Triple-helical region.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|response to glucose (GO:0009749)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		CCTCTGATGCCTTTGGGTCCT	0.498																																						ENST00000295550.4																			0				breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217						c.(7012-7014)Ggc>Tgc		collagen, type VI, alpha 3							145	115	125					2																	238256467		2203	4300	6503	SO:0001583	missense	1293				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity	g.chr2:238256467C>A	X52022	CCDS33409.1, CCDS33410.1, CCDS33411.1, CCDS33412.1, CCDS33410.2, CCDS33411.2, CCDS54439.1	2q37	2014-09-17			ENSG00000163359	ENSG00000163359		"Collagens"	2213	protein-coding gene	gene with protein product		120250				1339440, 11992252	Standard	NM_004369		Approved		uc002vwl.2	P12111	OTTHUMG00000150020	ENST00000295550.4:c.7012G>T	2.37:g.238256467C>A	ENSP00000295550:p.Gly2338Cys					COL6A3_ENST00000472056.1_Missense_Mutation_p.G1731C|COL6A3_ENST00000353578.4_Missense_Mutation_p.G2132C|COL6A3_ENST00000346358.4_Missense_Mutation_p.G2138C|COL6A3_ENST00000409809.1_Missense_Mutation_p.G2132C|COL6A3_ENST00000347401.3_Missense_Mutation_p.G2137C	p.G2338C	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)	31	7464	-		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)	2338			Collagen-like 5.|Triple-helical region.		A8MT30|B4E3U5|B7ZMJ7|E9PFQ6|E9PGQ9|Q16501|Q53QF4|Q53QF6	Missense_Mutation	SNP	ENST00000295550.4	37	c.7012G>T	CCDS33412.1	.	.	.	.	.	.	.	.	.	.	C	16.93	3.258002	0.59321	.	.	ENSG00000163359	ENST00000295550;ENST00000347401;ENST00000353578;ENST00000472056;ENST00000409809;ENST00000346358	D;D;D;D;D;D	0.99537	-5.16;-5.16;-5.53;-6.11;-5.53;-5.16	4.56	4.56	0.56223	.	0.000000	0.50627	D	0.000113	D	0.99809	0.9917	H	0.98629	4.285	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	D	0.96607	0.9449	10	0.87932	D	0	.	16.5242	0.84326	0.0:1.0:0.0:0.0	.	1731;1731;2132;2338	E9PFQ6;B7ZMJ7;P12111-2;P12111	.;.;.;CO6A3_HUMAN	C	2338;2137;2132;1731;2132;2138	ENSP00000295550:G2338C;ENSP00000315609:G2137C;ENSP00000315873:G2132C;ENSP00000418285:G1731C;ENSP00000386844:G2132C;ENSP00000295546:G2138C	ENSP00000295550:G2338C	G	-	1	0	COL6A3	237921206	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	6.736000	0.74811	2.374000	0.81015	0.655000	0.94253	GGC		0.498	COL6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315790.2	NM_004369		3	16	1	0	0.150653	1	0.151081	3	16					A	238256467	C	A	238256467	3	1	435	1	0	0	0	0	1	0	0	0	3701	681	24	5	2577	5	COL6A3	2	238256467	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	253632	238256467	4942906	1595	22520											
COL6A3	1293	broad.mit.edu	37	chr2	238275437	238275437	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctcctggacgttgcccacgCggaacgctgtggcgctgttg	4	9	15	13	5	0	0	0	0	0	0	1	2	1	2	2	3	2	5	2	3	1	2	rs371441617		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:238275437C>T	ENST00000295550.4	-	11	5845	c.5393G>A	c.(5392-5394)cGc>cAc	p.R1798H	COL6A3_ENST00000346358.4_Missense_Mutation_p.R1598H|COL6A3_ENST00000347401.3_Missense_Mutation_p.R1597H|COL6A3_ENST00000409809.1_Missense_Mutation_p.R1592H|COL6A3_ENST00000472056.1_Missense_Mutation_p.R1191H|COL6A3_ENST00000353578.4_Missense_Mutation_p.R1592H	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	1798	Nonhelical region.|VWFA 9. {ECO:0000255|PROSITE- ProRule:PRU00219}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|response to glucose (GO:0009749)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.R1798H(1)		breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		GTTGCCCACGCGGAACGCTGT	0.547																																						ENST00000295550.4																			1	Substitution - Missense(1)	p.R1798H(1)	large_intestine(1)	breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217						c.(5392-5394)cGc>cAc		collagen, type VI, alpha 3							97	89	92					2																	238275437		2203	4300	6503	SO:0001583	missense	1293				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity	g.chr2:238275437C>T	X52022	CCDS33409.1, CCDS33410.1, CCDS33411.1, CCDS33412.1, CCDS33410.2, CCDS33411.2, CCDS54439.1	2q37	2014-09-17			ENSG00000163359	ENSG00000163359		"Collagens"	2213	protein-coding gene	gene with protein product		120250				1339440, 11992252	Standard	NM_004369		Approved		uc002vwl.2	P12111	OTTHUMG00000150020	ENST00000295550.4:c.5393G>A	2.37:g.238275437C>T	ENSP00000295550:p.Arg1798His					COL6A3_ENST00000472056.1_Missense_Mutation_p.R1191H|COL6A3_ENST00000353578.4_Missense_Mutation_p.R1592H|COL6A3_ENST00000346358.4_Missense_Mutation_p.R1598H|COL6A3_ENST00000409809.1_Missense_Mutation_p.R1592H|COL6A3_ENST00000347401.3_Missense_Mutation_p.R1597H	p.R1798H	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)	11	5845	-		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)	1798			Nonhelical region.|VWFA 9.		A8MT30|B4E3U5|B7ZMJ7|E9PFQ6|E9PGQ9|Q16501|Q53QF4|Q53QF6	Missense_Mutation	SNP	ENST00000295550.4	37	c.5393G>A	CCDS33412.1	.	.	.	.	.	.	.	.	.	.	C	11.30	1.597341	0.28445	.	.	ENSG00000163359	ENST00000295550;ENST00000347401;ENST00000353578;ENST00000472056;ENST00000409809;ENST00000346358	D;D;D;D;D;D	0.84146	-1.81;-1.81;-1.81;-1.81;-1.81;-1.81	5.51	3.69	0.42338	von Willebrand factor, type A (3);	0.000000	0.48286	D	0.000191	D	0.86351	0.5912	N	0.26130	0.795	0.43088	D	0.994755	D;D;D	0.89917	1.0;1.0;0.996	D;D;P	0.97110	1.0;0.999;0.845	T	0.83021	-0.0167	10	0.23302	T	0.38	.	14.8057	0.69952	0.263:0.737:0.0:0.0	.	1191;1592;1798	E9PFQ6;P12111-2;P12111	.;.;CO6A3_HUMAN	H	1798;1597;1592;1191;1592;1598	ENSP00000295550:R1798H;ENSP00000315609:R1597H;ENSP00000315873:R1592H;ENSP00000418285:R1191H;ENSP00000386844:R1592H;ENSP00000295546:R1598H	ENSP00000295550:R1798H	R	-	2	0	COL6A3	237940176	1.000000	0.71417	0.506000	0.27664	0.147000	0.21601	4.669000	0.61575	0.663000	0.31027	0.650000	0.86243	CGC		0.547	COL6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315790.2	NM_004369		9	67	0	0	0	1	0	9	67					T	238275437	C	T	238275437	3	4	435	1	0	0	0	0	1	0	0	0	3701	768	27	1	4276	1	COL6A3	2	238275437	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	18970	238275437	4923936	1596	22521											
MLPH	79083	broad.mit.edu	37	chr2	238419298	238419298	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	catctgaacgagacccactgCgcccgctgcctgcagcccta	8	6	9	18	3	1	2	0	1	1	1	1	3	1	2	4	0	5	2	4	0	2	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:238419298C>T	ENST00000264605.3	+	3	486	c.192C>T	c.(190-192)tgC>tgT	p.C64C	MLPH_ENST00000338530.4_Silent_p.C64C|MLPH_ENST00000410032.1_Silent_p.C64C|MLPH_ENST00000468178.1_3'UTR|MLPH_ENST00000409373.1_Silent_p.C64C|MLPH_ENST00000445024.2_Silent_p.C64C	NM_024101.5	NP_077006.1	Q9BV36	MELPH_HUMAN	melanophilin	64	RabBD. {ECO:0000255|PROSITE- ProRule:PRU00234}.				melanocyte differentiation (GO:0030318)|melanosome localization (GO:0032400)|protein targeting (GO:0006605)	cortical actin cytoskeleton (GO:0030864)|extracellular vesicular exosome (GO:0070062)|microtubule organizing center (GO:0005815)|microtubule plus-end (GO:0035371)|stress fiber (GO:0001725)	metal ion binding (GO:0046872)			NS(1)|breast(3)|cervix(1)|endometrium(3)|large_intestine(2)|lung(11)|ovary(1)|stomach(2)|upper_aerodigestive_tract(1)	25		Breast(86;0.000381)|Renal(207;0.000966)|Ovarian(221;0.0695)|all_hematologic(139;0.095)|all_lung(227;0.17)|Melanoma(123;0.203)		Epithelial(121;1.17e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.02e-10)|Kidney(56;4.23e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.15e-07)|BRCA - Breast invasive adenocarcinoma(100;0.000439)|Lung(119;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0316)		AGACCCACTGCGCCCGCTGCC	0.562																																						ENST00000264605.3																			0				NS(1)|breast(3)|cervix(1)|endometrium(3)|large_intestine(2)|lung(11)|ovary(1)|stomach(2)|upper_aerodigestive_tract(1)	25						c.(190-192)tgC>tgT		melanophilin							46	48	47					2																	238419298		2203	4300	6503	SO:0001819	synonymous_variant	79083						metal ion binding	g.chr2:238419298C>T	AY358857	CCDS2518.1, CCDS42836.1, CCDS63172.1, CCDS63173.1	2q37.2	2014-09-17			ENSG00000115648	ENSG00000115648			29643	protein-coding gene	gene with protein product		606526				11980908, 11504925	Standard	NM_024101		Approved	l1Rk3, l(1)-3Rk, Slac-2a, ln, exophilin-3	uc002vwt.3	Q9BV36	OTTHUMG00000133298	ENST00000264605.3:c.192C>T	2.37:g.238419298C>T						MLPH_ENST00000468178.1_3'UTR|MLPH_ENST00000445024.2_Silent_p.C64C|MLPH_ENST00000338530.4_Silent_p.C64C|MLPH_ENST00000410032.1_Silent_p.C64C|MLPH_ENST00000409373.1_Silent_p.C64C	p.C64C	NM_024101.5	NP_077006.1	Q9BV36	MELPH_HUMAN		Epithelial(121;1.17e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.02e-10)|Kidney(56;4.23e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.15e-07)|BRCA - Breast invasive adenocarcinoma(100;0.000439)|Lung(119;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0316)	3	486	+		Breast(86;0.000381)|Renal(207;0.000966)|Ovarian(221;0.0695)|all_hematologic(139;0.095)|all_lung(227;0.17)|Melanoma(123;0.203)	64			RabBD.		B3KSS2|B4DKW7|G5E9G5|Q9HA71	Silent	SNP	ENST00000264605.3	37	c.192C>T	CCDS2518.1																																																																																				0.562	MLPH-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257083.2	NM_024101		5	18	0	0	0	1	0	5	18					T	238419298	C	T	238419298	2	4	435	1	0	0	0	0	0	0	0	1	9633	776	27	1		1	MLPH	2	238419298	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	143861	238419298	4780075	1597	22522											
MLPH	79083	broad.mit.edu	37	chr2	238434378	238434378	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcatctcaccttccagacaCggcgccctggctgagctctg	7	8	10	16	2	2	2	1	1	2	1	4	2	3	2	3	2	2	3	3	2	0	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:238434378C>T	ENST00000264605.3	+	7	1104	c.810C>T	c.(808-810)caC>caT	p.H270H	MLPH_ENST00000338530.4_Silent_p.H270H|MLPH_ENST00000410032.1_Intron|MLPH_ENST00000468178.1_3'UTR|MLPH_ENST00000409373.1_Silent_p.H230H|MLPH_ENST00000445024.2_Silent_p.H270H	NM_024101.5	NP_077006.1	Q9BV36	MELPH_HUMAN	melanophilin	270					melanocyte differentiation (GO:0030318)|melanosome localization (GO:0032400)|protein targeting (GO:0006605)	cortical actin cytoskeleton (GO:0030864)|extracellular vesicular exosome (GO:0070062)|microtubule organizing center (GO:0005815)|microtubule plus-end (GO:0035371)|stress fiber (GO:0001725)	metal ion binding (GO:0046872)			NS(1)|breast(3)|cervix(1)|endometrium(3)|large_intestine(2)|lung(11)|ovary(1)|stomach(2)|upper_aerodigestive_tract(1)	25		Breast(86;0.000381)|Renal(207;0.000966)|Ovarian(221;0.0695)|all_hematologic(139;0.095)|all_lung(227;0.17)|Melanoma(123;0.203)		Epithelial(121;1.17e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.02e-10)|Kidney(56;4.23e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.15e-07)|BRCA - Breast invasive adenocarcinoma(100;0.000439)|Lung(119;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0316)		CTTCCAGACACGGCGCCCTGG	0.667																																						ENST00000264605.3																			0				NS(1)|breast(3)|cervix(1)|endometrium(3)|large_intestine(2)|lung(11)|ovary(1)|stomach(2)|upper_aerodigestive_tract(1)	25						c.(808-810)caC>caT		melanophilin							45	47	46					2																	238434378		2203	4300	6503	SO:0001819	synonymous_variant	79083						metal ion binding	g.chr2:238434378C>T	AY358857	CCDS2518.1, CCDS42836.1, CCDS63172.1, CCDS63173.1	2q37.2	2014-09-17			ENSG00000115648	ENSG00000115648			29643	protein-coding gene	gene with protein product		606526				11980908, 11504925	Standard	NM_024101		Approved	l1Rk3, l(1)-3Rk, Slac-2a, ln, exophilin-3	uc002vwt.3	Q9BV36	OTTHUMG00000133298	ENST00000264605.3:c.810C>T	2.37:g.238434378C>T						MLPH_ENST00000468178.1_3'UTR|MLPH_ENST00000445024.2_Silent_p.H270H|MLPH_ENST00000338530.4_Silent_p.H270H|MLPH_ENST00000410032.1_Intron|MLPH_ENST00000409373.1_Silent_p.H230H	p.H270H	NM_024101.5	NP_077006.1	Q9BV36	MELPH_HUMAN		Epithelial(121;1.17e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.02e-10)|Kidney(56;4.23e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.15e-07)|BRCA - Breast invasive adenocarcinoma(100;0.000439)|Lung(119;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0316)	7	1104	+		Breast(86;0.000381)|Renal(207;0.000966)|Ovarian(221;0.0695)|all_hematologic(139;0.095)|all_lung(227;0.17)|Melanoma(123;0.203)	270					B3KSS2|B4DKW7|G5E9G5|Q9HA71	Silent	SNP	ENST00000264605.3	37	c.810C>T	CCDS2518.1	.	.	.	.	.	.	.	.	.	.	C	3.740	-0.053727	0.07362	.	.	ENSG00000115648	ENST00000437893;ENST00000436965	T	0.28069	1.63	3.35	-2.25	0.06888	.	.	.	.	.	T	0.18341	0.0440	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.31166	-0.9953	5	.	.	.	0.3053	4.6401	0.12545	0.4751:0.1758:0.3491:0.0	.	.	.	.	M	77;3	ENSP00000412438:T77M	.	T	+	2	0	MLPH	238099117	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.172000	0.09868	-0.521000	0.06426	-1.097000	0.02148	ACG		0.667	MLPH-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257083.2	NM_024101		13	31	0	0	0	1	0	13	31					T	238434378	C	T	238434378	2	4	435	1	0	0	0	0	0	0	0	1	9633	535	19	1		1	MLPH	2	238434378	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	15080	238434378	4764995	1598	22523											
RBM44	375316	broad.mit.edu	37	chr2	238732966	238732966	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accaagagacaagcgaagacTggtctgatgctaaagagagc	16	5	12	8	1	1	4	0	1	1	3	1	7	1	4	1	1	3	1	1	1	5	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:238732966T>C	ENST00000409864.1	+	10	2610	c.2356T>C	c.(2356-2358)Tgg>Cgg	p.W786R	RBM44_ENST00000316997.4_Missense_Mutation_p.W786R			Q6ZP01	RBM44_HUMAN	RNA binding motif protein 44	785						cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)	nucleotide binding (GO:0000166)|protein homodimerization activity (GO:0042803)|RNA binding (GO:0003723)	p.W786R(1)		breast(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(7)|ovary(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	33		Breast(86;0.0042)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)		Epithelial(121;3.74e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.3e-11)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000118)|Lung(119;0.0112)|LUSC - Lung squamous cell carcinoma(224;0.0266)		AAGCGAAGACTGGTCTGATGC	0.443																																						ENST00000316997.4																			1	Substitution - Missense(1)	p.W786R(1)	ovary(1)	breast(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(7)|ovary(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						c.(2356-2358)Tgg>Cgg		RNA binding motif protein 44							124	126	125					2																	238732966		1978	4162	6140	SO:0001583	missense	375316						nucleotide binding|RNA binding	g.chr2:238732966T>C	AK097730	CCDS46554.1	2q37.3	2013-02-12			ENSG00000177483	ENSG00000177483		"RNA binding motif (RRM) containing"	24756	protein-coding gene	gene with protein product							Standard	NM_001080504		Approved	FLJ40411	uc002vxi.4	Q6ZP01	OTTHUMG00000152937	ENST00000409864.1:c.2356T>C	2.37:g.238732966T>C	ENSP00000386727:p.Trp786Arg					RBM44_ENST00000409864.1_Missense_Mutation_p.W786R	p.W786R	NM_001080504.2	NP_001073973.2	Q6ZP01	RBM44_HUMAN		Epithelial(121;3.74e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.3e-11)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000118)|Lung(119;0.0112)|LUSC - Lung squamous cell carcinoma(224;0.0266)	10	2488	+		Breast(86;0.0042)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)	785					A0AUW3	Missense_Mutation	SNP	ENST00000409864.1	37	c.2356T>C	CCDS46554.1	.	.	.	.	.	.	.	.	.	.	T	18.14	3.557616	0.65425	.	.	ENSG00000177483	ENST00000316997;ENST00000409864	T;T	0.61274	0.12;0.12	5.32	5.32	0.75619	.	.	.	.	.	T	0.74566	0.3733	M	0.76574	2.34	0.38993	D	0.959187	D	0.89917	1.0	D	0.85130	0.997	T	0.79509	-0.1774	9	0.87932	D	0	-4.9625	12.6551	0.56784	0.0:0.0:0.0:1.0	.	785	Q6ZP01	RBM44_HUMAN	R	786	ENSP00000321179:W786R;ENSP00000386727:W786R	ENSP00000321179:W786R	W	+	1	0	RBM44	238397705	1.000000	0.71417	1.000000	0.80357	0.703000	0.40648	4.498000	0.60373	2.018000	0.59344	0.528000	0.53228	TGG		0.443	RBM44-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328733.2	NM_001080504		9	16	0	0	0	1	0	9	16					C	238732966	T	C	238732966	3	2	435	1	0	0	0	0	1	0	0	0	13138	1580	55	4	2390	4	RBM44	2	238732966	Missense_Mutation	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	298588	238732966	4466407	1599	22524											
ILKAP	80895	broad.mit.edu	37	chr2	239082199	239082199	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cattgggggtcagctggcagCgtctgatgtcgggcacagag	7	8	17	9	2	2	2	1	1	1	1	3	2	2	2	0	4	2	3	0	4	0	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:239082199C>T	ENST00000254654.3	-	10	1107	c.932G>A	c.(931-933)cGc>cAc	p.R311H		NM_030768.2	NP_110395.1	Q9H0C8	ILKAP_HUMAN	integrin-linked kinase-associated serine/threonine phosphatase	311	PP2C-like.				protein dephosphorylation (GO:0006470)|regulation of nuclear cell cycle DNA replication (GO:0033262)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)			endometrium(1)|kidney(3)|large_intestine(5)|lung(4)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_lung(227;0.152)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;5.49e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.93e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.82e-08)|BRCA - Breast invasive adenocarcinoma(100;0.00012)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.0163)		CAGCTGGCAGCGTCTGATGTC	0.542																																						ENST00000254654.3																			0				endometrium(1)|kidney(3)|large_intestine(5)|lung(4)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19						c.(931-933)cGc>cAc		integrin-linked kinase-associated serine/threonine phosphatase							76	76	76					2																	239082199		2203	4300	6503	SO:0001583	missense	80895					cytoplasm|protein serine/threonine phosphatase complex	metal ion binding|protein binding	g.chr2:239082199C>T	AY024365	CCDS2526.1	2q37.3	2012-04-17	2010-10-25		ENSG00000132323	ENSG00000132323	3.1.3.16	"Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"	15566	protein-coding gene	gene with protein product			"integrin-linked kinase-associated serine/threonine phosphatase 2C"				Standard	NM_030768		Approved	DKFZP434J2031, FLJ10181	uc002vxv.3	Q9H0C8	OTTHUMG00000133334	ENST00000254654.3:c.932G>A	2.37:g.239082199C>T	ENSP00000254654:p.Arg311His						p.R311H	NM_030768.2	NP_110395.1	Q9H0C8	ILKAP_HUMAN		Epithelial(121;5.49e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.93e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.82e-08)|BRCA - Breast invasive adenocarcinoma(100;0.00012)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.0163)	10	1107	-		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_lung(227;0.152)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Hepatocellular(293;0.244)	311			PP2C-like.		B3KM39	Missense_Mutation	SNP	ENST00000254654.3	37	c.932G>A	CCDS2526.1	.	.	.	.	.	.	.	.	.	.	C	34	5.358906	0.95854	.	.	ENSG00000132323	ENST00000254654;ENST00000450411	T;T	0.16897	2.31;2.31	5.22	5.22	0.72569	Protein phosphatase 2C-like (5);	0.000000	0.85682	D	0.000000	T	0.29783	0.0744	L	0.43923	1.385	0.80722	D	1	D	0.62365	0.991	P	0.55667	0.781	T	0.01456	-1.1350	10	0.72032	D	0.01	0.0105	17.559	0.87901	0.0:1.0:0.0:0.0	.	311	Q9H0C8	ILKAP_HUMAN	H	311;128	ENSP00000254654:R311H;ENSP00000406254:R128H	ENSP00000254654:R311H	R	-	2	0	ILKAP	238746938	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.205000	0.77881	2.451000	0.82905	0.563000	0.77884	CGC		0.542	ILKAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257163.2	NM_030768		10	16	0	0	0	1	0	10	16					T	239082199	C	T	239082199	3	4	435	1	0	0	0	0	1	0	0	0	7714	768	27	1	258	1	ILKAP	2	239082199	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	349233	239082199	4117174	1600	22525											
PER2	8864	broad.mit.edu	37	chr2	239167146	239167146	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atgccggcatacctgatgacGctgtccaagcagctgatctg	9	9	11	12	2	1	3	0	3	1	0	2	3	2	3	3	1	4	4	3	1	2	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:239167146G>A	ENST00000254657.3	-	15	2046	c.1767C>T	c.(1765-1767)agC>agT	p.S589S	PER2_ENST00000254658.3_3'UTR|AC096574.4_ENST00000456601.1_RNA	NM_022817.2	NP_073728.1	O15055	PER2_HUMAN	period circadian clock 2	589	CSNK1E binding domain. {ECO:0000250}.				circadian regulation of gene expression (GO:0032922)|circadian regulation of translation (GO:0097167)|circadian rhythm (GO:0007623)|fatty acid metabolic process (GO:0006631)|gluconeogenesis (GO:0006094)|glycogen biosynthetic process (GO:0005978)|histone H3 deacetylation (GO:0070932)|lactate biosynthetic process (GO:0019249)|negative regulation of circadian rhythm (GO:0042754)|negative regulation of DNA-templated transcription, termination (GO:0060567)|negative regulation of fat cell proliferation (GO:0070345)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of cell cycle (GO:0051726)|regulation of circadian rhythm (GO:0042752)|regulation of glutamate uptake involved in transmission of nerve impulse (GO:0051946)|regulation of insulin secretion (GO:0050796)|regulation of neurogenesis (GO:0050767)|regulation of vasoconstriction (GO:0019229)|response to ischemia (GO:0002931)|transcription, DNA-templated (GO:0006351)|white fat cell differentiation (GO:0050872)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	pre-mRNA binding (GO:0036002)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)|transcription factor binding transcription factor activity (GO:0000989)|transcription regulatory region sequence-specific DNA binding (GO:0000976)|ubiquitin binding (GO:0043130)			NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0423)|all_lung(227;0.114)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Lung NSC(271;0.223)|Hepatocellular(293;0.244)		Epithelial(121;6.84e-24)|OV - Ovarian serous cystadenocarcinoma(60;9.73e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;6.77e-05)|Lung(119;0.00941)|LUSC - Lung squamous cell carcinoma(224;0.0161)		ACCTGATGACGCTGTCCAAGC	0.582																																						ENST00000254657.3																			0				NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						c.(1765-1767)agC>agT		period circadian clock 2							91	78	83					2																	239167146		2203	4300	6503	SO:0001819	synonymous_variant	8864				circadian rhythm|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	protein binding|signal transducer activity	g.chr2:239167146G>A	AB002345	CCDS2528.1	2q37.3	2012-12-13	2012-12-13		ENSG00000132326	ENSG00000132326			8846	protein-coding gene	gene with protein product		603426	"period (Drosophila) homolog 2", "period homolog 2 (Drosophila)"			9427249, 17218255	Standard	NM_022817		Approved	KIAA0347	uc002vyc.3	O15055	OTTHUMG00000152884	ENST00000254657.3:c.1767C>T	2.37:g.239167146G>A						PER2_ENST00000254658.3_3'UTR	p.S589S	NM_022817.2	NP_073728.1	O15055	PER2_HUMAN		Epithelial(121;6.84e-24)|OV - Ovarian serous cystadenocarcinoma(60;9.73e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;6.77e-05)|Lung(119;0.00941)|LUSC - Lung squamous cell carcinoma(224;0.0161)	15	2046	-		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0423)|all_lung(227;0.114)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Lung NSC(271;0.223)|Hepatocellular(293;0.244)	589			CSNK1E binding domain (By similarity).		A2I2P7|Q4ZG49|Q6DT41|Q9UQ45	Silent	SNP	ENST00000254657.3	37	c.1767C>T	CCDS2528.1																																																																																				0.582	PER2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257167.1	NM_022817		17	26	0	0	0	1	0	17	26					A	239167146	G	A	239167146	2	1	435	1	0	0	0	0	0	0	0	1	11730	1078	38	1		1	PER2	2	239167146	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	84947	239167146	4032227	1601	22526											
PER2	8864	broad.mit.edu	37	chr2	239176769	239176769	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctcagcaccttgttggtcccGcaccttgaccaggtagggcg	6	9	12	14	2	1	1	1	1	0	0	2	1	2	1	4	3	1	4	4	3	1	4	rs201149361		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:239176769G>A	ENST00000254657.3	-	8	1174	c.895C>T	c.(895-897)Cgg>Tgg	p.R299W	PER2_ENST00000440245.1_Missense_Mutation_p.R299W|PER2_ENST00000355768.2_Missense_Mutation_p.R299W|PER2_ENST00000254658.3_Missense_Mutation_p.R299W	NM_022817.2	NP_073728.1	O15055	PER2_HUMAN	period circadian clock 2	299					circadian regulation of gene expression (GO:0032922)|circadian regulation of translation (GO:0097167)|circadian rhythm (GO:0007623)|fatty acid metabolic process (GO:0006631)|gluconeogenesis (GO:0006094)|glycogen biosynthetic process (GO:0005978)|histone H3 deacetylation (GO:0070932)|lactate biosynthetic process (GO:0019249)|negative regulation of circadian rhythm (GO:0042754)|negative regulation of DNA-templated transcription, termination (GO:0060567)|negative regulation of fat cell proliferation (GO:0070345)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of cell cycle (GO:0051726)|regulation of circadian rhythm (GO:0042752)|regulation of glutamate uptake involved in transmission of nerve impulse (GO:0051946)|regulation of insulin secretion (GO:0050796)|regulation of neurogenesis (GO:0050767)|regulation of vasoconstriction (GO:0019229)|response to ischemia (GO:0002931)|transcription, DNA-templated (GO:0006351)|white fat cell differentiation (GO:0050872)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	pre-mRNA binding (GO:0036002)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)|transcription factor binding transcription factor activity (GO:0000989)|transcription regulatory region sequence-specific DNA binding (GO:0000976)|ubiquitin binding (GO:0043130)			NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0423)|all_lung(227;0.114)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Lung NSC(271;0.223)|Hepatocellular(293;0.244)		Epithelial(121;6.84e-24)|OV - Ovarian serous cystadenocarcinoma(60;9.73e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;6.77e-05)|Lung(119;0.00941)|LUSC - Lung squamous cell carcinoma(224;0.0161)		TGTTGGTCCCGCACCTTGACC	0.582																																						ENST00000254657.3																			0				NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						c.(895-897)Cgg>Tgg		period circadian clock 2							138	132	134					2																	239176769		2203	4300	6503	SO:0001583	missense	8864				circadian rhythm|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	protein binding|signal transducer activity	g.chr2:239176769G>A	AB002345	CCDS2528.1	2q37.3	2012-12-13	2012-12-13		ENSG00000132326	ENSG00000132326			8846	protein-coding gene	gene with protein product		603426	"period (Drosophila) homolog 2", "period homolog 2 (Drosophila)"			9427249, 17218255	Standard	NM_022817		Approved	KIAA0347	uc002vyc.3	O15055	OTTHUMG00000152884	ENST00000254657.3:c.895C>T	2.37:g.239176769G>A	ENSP00000254657:p.Arg299Trp					PER2_ENST00000355768.2_Missense_Mutation_p.R299W|PER2_ENST00000254658.3_Missense_Mutation_p.R299W|PER2_ENST00000440245.1_Missense_Mutation_p.R299W	p.R299W	NM_022817.2	NP_073728.1	O15055	PER2_HUMAN		Epithelial(121;6.84e-24)|OV - Ovarian serous cystadenocarcinoma(60;9.73e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;6.77e-05)|Lung(119;0.00941)|LUSC - Lung squamous cell carcinoma(224;0.0161)	8	1174	-		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0423)|all_lung(227;0.114)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Lung NSC(271;0.223)|Hepatocellular(293;0.244)	299					A2I2P7|Q4ZG49|Q6DT41|Q9UQ45	Missense_Mutation	SNP	ENST00000254657.3	37	c.895C>T	CCDS2528.1	.	.	.	.	.	.	.	.	.	.	G	6.117	0.389827	0.11581	.	.	ENSG00000132326	ENST00000254657;ENST00000254658;ENST00000440245;ENST00000355768	T;T;T;T	0.49432	2.69;0.78;1.79;0.78	4.42	2.61	0.31194	.	0.579593	0.18394	N	0.142579	T	0.35393	0.0930	L	0.42245	1.32	0.09310	N	1	B;B;B;B	0.16802	0.019;0.001;0.006;0.001	B;B;B;B	0.11329	0.006;0.0;0.005;0.001	T	0.33675	-0.9859	10	0.87932	D	0	-0.3548	4.6514	0.12596	0.191:0.0:0.6357:0.1733	.	299;299;299;299	F5GYD5;B4DH14;O15055-2;O15055	.;.;.;PER2_HUMAN	W	299	ENSP00000254657:R299W;ENSP00000254658:R299W;ENSP00000397516:R299W;ENSP00000348013:R299W	ENSP00000254657:R299W	R	-	1	2	PER2	238841508	0.997000	0.39634	0.002000	0.10522	0.087000	0.18053	4.414000	0.59802	0.590000	0.29694	-0.145000	0.13849	CGG		0.582	PER2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257167.1	NM_022817		12	18	0	0	0	1	0	12	18					A	239176769	G	A	239176769	3	1	435	1	0	0	0	0	1	0	0	0	11730	1086	38	1	2936	1	PER2	2	239176769	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	9623	239176769	4022604	1602	22527											
TRAF3IP1	26146	broad.mit.edu	37	chr2	239261531	239261531	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cacaattctgacaatgaagaGgatgatcaatttgtggtgga	14	11	11	5	0	2	4	1	3	1	1	2	6	2	6	0	3	0	0	0	3	4	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:239261531G>T	ENST00000373327.4	+	13	1737	c.1515G>T	c.(1513-1515)gaG>gaT	p.E505D	TRAF3IP1_ENST00000391994.2_Missense_Mutation_p.E505D|TRAF3IP1_ENST00000391993.3_Missense_Mutation_p.E439D	NM_015650.3	NP_056465.2	Q8TDR0	MIPT3_HUMAN	TNF receptor-associated factor 3 interacting protein 1	505	DISC1-interaction domain.				cilium assembly (GO:0042384)|embryonic camera-type eye development (GO:0031076)|embryonic digit morphogenesis (GO:0042733)|embryonic heart tube development (GO:0035050)|intraciliary transport (GO:0042073)|negative regulation of defense response to virus (GO:0050687)|negative regulation of interferon-beta production (GO:0032688)|negative regulation of smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:1901621)|neural tube patterning (GO:0021532)|post-anal tail morphogenesis (GO:0036342)	axoneme (GO:0005930)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|intraciliary transport particle B (GO:0030992)		p.E505E(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)|skin(2)	23		all_epithelial(40;3.22e-10)|Breast(86;0.000523)|Renal(207;0.00571)|Ovarian(221;0.156)|all_hematologic(139;0.182)		Epithelial(121;9.92e-24)|OV - Ovarian serous cystadenocarcinoma(60;7.85e-12)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.01e-07)|BRCA - Breast invasive adenocarcinoma(100;7.72e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.0184)		ACAATGAAGAGGATGATCAAT	0.328																																						ENST00000373327.4																			1	Substitution - coding silent(1)	p.E505E(1)	lung(1)	breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)|skin(2)	23						c.(1513-1515)gaG>gaT		TNF receptor-associated factor 3 interacting protein 1							73	71	71					2																	239261531		2203	4300	6503	SO:0001583	missense	26146					cytoplasm|cytoskeleton	protein binding	g.chr2:239261531G>T	AF230877	CCDS33415.1, CCDS46557.1	2q37.3	2014-02-21			ENSG00000204104	ENSG00000204104		"Intraflagellar transport homologs"	17861	protein-coding gene	gene with protein product	"microtubule interacting protein that associates with TRAF3"	607380				10791955, 12935900	Standard	NM_015650		Approved	MIP-T3, DKFZP434F124, MIPT3, IFT54	uc002vye.3	Q8TDR0	OTTHUMG00000152872	ENST00000373327.4:c.1515G>T	2.37:g.239261531G>T	ENSP00000362424:p.Glu505Asp					TRAF3IP1_ENST00000391993.3_Missense_Mutation_p.E439D|TRAF3IP1_ENST00000391994.2_Missense_Mutation_p.E505D	p.E505D	NM_015650.3	NP_056465.2	Q8TDR0	MIPT3_HUMAN		Epithelial(121;9.92e-24)|OV - Ovarian serous cystadenocarcinoma(60;7.85e-12)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.01e-07)|BRCA - Breast invasive adenocarcinoma(100;7.72e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.0184)	13	1737	+		all_epithelial(40;3.22e-10)|Breast(86;0.000523)|Renal(207;0.00571)|Ovarian(221;0.156)|all_hematologic(139;0.182)	505			DISC1-interaction domain.		Q6PCT1|Q7L8N9|Q9NRD6|Q9Y4Q1	Missense_Mutation	SNP	ENST00000373327.4	37	c.1515G>T	CCDS33415.1	.	.	.	.	.	.	.	.	.	.	G	7.456	0.643605	0.14451	.	.	ENSG00000204104	ENST00000391993;ENST00000373327;ENST00000391994;ENST00000440998	T;T;T	0.10668	2.85;2.85;2.85	4.86	-8.0	0.01126	.	0.341708	0.33161	N	0.005208	T	0.02929	0.0087	N	0.12746	0.255	0.22771	N	0.998751	B;B	0.24483	0.104;0.064	B;B	0.27608	0.066;0.081	T	0.34850	-0.9812	10	0.13853	T	0.58	-12.1992	0.5494	0.00660	0.2264:0.2972:0.1794:0.297	.	439;505	Q8TDR0-2;Q8TDR0	.;MIPT3_HUMAN	D	439;505;505;439	ENSP00000375851:E439D;ENSP00000362424:E505D;ENSP00000375852:E505D	ENSP00000362424:E505D	E	+	3	2	TRAF3IP1	238926270	0.000000	0.05858	0.003000	0.11579	0.792000	0.44763	-4.924000	0.00169	-1.899000	0.01098	-0.169000	0.13324	GAG		0.328	TRAF3IP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000328312.1	NM_015650		23	28	1	0	3.6726e-16	1	4.02897e-16	23	28					T	239261531	G	T	239261531	3	4	435	1	0	0	0	0	1	0	0	0	16437	991	35	5	1565	5	TRAF3IP1	2	239261531	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	84762	239261531	3937842	1603	22528											
ASB1	51665	broad.mit.edu	37	chr2	239344527	239344527	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgtggctgtggtgaacgggCacctagagagtacccagatc	10	8	14	9	1	0	3	0	1	0	2	1	4	0	3	2	3	2	3	2	3	3	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:239344527C>T	ENST00000264607.4	+	3	614	c.367C>T	c.(367-369)Cac>Tac	p.H123Y	ASB1_ENST00000409297.1_Intron	NM_001040445.1	NP_001035535.1	Q9Y576	ASB1_HUMAN	ankyrin repeat and SOCS box containing 1	123					intracellular signal transduction (GO:0035556)|male genitalia development (GO:0030539)|negative regulation of cytokine biosynthetic process (GO:0042036)|protein ubiquitination (GO:0016567)	intracellular (GO:0005622)				breast(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1)	8		all_epithelial(40;2.65e-14)|Breast(86;7.61e-05)|Renal(207;0.00183)|all_lung(227;0.0283)|Ovarian(221;0.0365)|Lung NSC(271;0.0941)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;2.04e-26)|OV - Ovarian serous cystadenocarcinoma(60;4.5e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;2.88e-05)|Lung(119;0.000383)|LUSC - Lung squamous cell carcinoma(224;0.00644)		GGTGAACGGGCACCTAGAGAG	0.637																																						ENST00000264607.4																			0				breast(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1)	8						c.(367-369)Cac>Tac		ankyrin repeat and SOCS box containing 1							63	56	58					2																	239344527		2203	4300	6503	SO:0001583	missense	51665				intracellular signal transduction|negative regulation of cytokine biosynthetic process			g.chr2:239344527C>T	AF156777	CCDS33416.1	2q37	2013-01-10	2011-01-25		ENSG00000065802	ENSG00000065802		"Ankyrin repeat domain containing"	16011	protein-coding gene	gene with protein product		605758	"ankyrin repeat and SOCS box-containing 1"				Standard	XR_241235		Approved	ASB-1	uc002vyg.3	Q9Y576	OTTHUMG00000152866	ENST00000264607.4:c.367C>T	2.37:g.239344527C>T	ENSP00000264607:p.His123Tyr					ASB1_ENST00000409297.1_Intron	p.H123Y	NM_001040445.1	NP_001035535.1	Q9Y576	ASB1_HUMAN		Epithelial(121;2.04e-26)|OV - Ovarian serous cystadenocarcinoma(60;4.5e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;2.88e-05)|Lung(119;0.000383)|LUSC - Lung squamous cell carcinoma(224;0.00644)	3	614	+		all_epithelial(40;2.65e-14)|Breast(86;7.61e-05)|Renal(207;0.00183)|all_lung(227;0.0283)|Ovarian(221;0.0365)|Lung NSC(271;0.0941)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Hepatocellular(293;0.244)	123					A6NL50|Q4ZG29|Q9ULS4	Missense_Mutation	SNP	ENST00000264607.4	37	c.367C>T	CCDS33416.1	.	.	.	.	.	.	.	.	.	.	C	27.2	4.808170	0.90707	.	.	ENSG00000065802	ENST00000264607	T	0.67698	-0.28	5.58	5.58	0.84498	Ankyrin repeat-containing domain (4);	0.047237	0.85682	D	0.000000	T	0.80449	0.4625	L	0.58810	1.83	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	T	0.79780	-0.1659	10	0.51188	T	0.08	.	19.5671	0.95398	0.0:1.0:0.0:0.0	.	123	Q9Y576	ASB1_HUMAN	Y	123	ENSP00000264607:H123Y	ENSP00000264607:H123Y	H	+	1	0	ASB1	239009266	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	7.051000	0.76627	2.629000	0.89072	0.650000	0.86243	CAC		0.637	ASB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328294.1	NM_001040445		5	18	0	0	0	1	0	5	18					T	239344527	C	T	239344527	3	4	435	1	0	0	0	0	1	0	0	0	1013	710	25	3	377	3	ASB1	2	239344527	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	82996	239344527	3854846	1604	22529											
ASB1	51665	broad.mit.edu	37	chr2	239344584	239344584	+	Missense_Mutation	SNP	C	C	T																															cggaccccaacggaagccggCaccatcgcagcacccctgtc																										TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:239344584C>T	ENST00000264607.4	+	3	671	c.424C>T	c.(424-426)Cac>Tac	p.H142Y	ASB1_ENST00000409297.1_Intron	NM_001040445.1	NP_001035535.1	Q9Y576	ASB1_HUMAN	ankyrin repeat and SOCS box containing 1	142					intracellular signal transduction (GO:0035556)|male genitalia development (GO:0030539)|negative regulation of cytokine biosynthetic process (GO:0042036)|protein ubiquitination (GO:0016567)	intracellular (GO:0005622)				breast(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1)	8		all_epithelial(40;2.65e-14)|Breast(86;7.61e-05)|Renal(207;0.00183)|all_lung(227;0.0283)|Ovarian(221;0.0365)|Lung NSC(271;0.0941)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;2.04e-26)|OV - Ovarian serous cystadenocarcinoma(60;4.5e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;2.88e-05)|Lung(119;0.000383)|LUSC - Lung squamous cell carcinoma(224;0.00644)		CGGAAGCCGGCACCATCGCAG	0.637																																						ENST00000264607.4																			0				breast(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1)	8						c.(424-426)Cac>Tac		ankyrin repeat and SOCS box containing 1							39	37	38					2																	239344584		2203	4300	6503	SO:0001583	missense	51665				intracellular signal transduction|negative regulation of cytokine biosynthetic process			g.chr2:239344584C>T	AF156777	CCDS33416.1	2q37	2013-01-10	2011-01-25		ENSG00000065802	ENSG00000065802		"Ankyrin repeat domain containing"	16011	protein-coding gene	gene with protein product		605758	"ankyrin repeat and SOCS box-containing 1"				Standard	XR_241235		Approved	ASB-1	uc002vyg.3	Q9Y576	OTTHUMG00000152866	ENST00000264607.4:c.424C>T	2.37:g.239344584C>T	ENSP00000264607:p.His142Tyr					ASB1_ENST00000409297.1_Intron	p.H142Y	NM_001040445.1	NP_001035535.1	Q9Y576	ASB1_HUMAN		Epithelial(121;2.04e-26)|OV - Ovarian serous cystadenocarcinoma(60;4.5e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;2.88e-05)|Lung(119;0.000383)|LUSC - Lung squamous cell carcinoma(224;0.00644)	3	671	+		all_epithelial(40;2.65e-14)|Breast(86;7.61e-05)|Renal(207;0.00183)|all_lung(227;0.0283)|Ovarian(221;0.0365)|Lung NSC(271;0.0941)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Hepatocellular(293;0.244)	142					A6NL50|Q4ZG29|Q9ULS4	Missense_Mutation	SNP	ENST00000264607.4	37	c.424C>T	CCDS33416.1	.	.	.	.	.	.	.	.	.	.	C	16.53	3.150404	0.57151	.	.	ENSG00000065802	ENST00000264607	T	0.63913	-0.07	5.59	5.59	0.84812	Ankyrin repeat-containing domain (4);	0.044446	0.85682	D	0.000000	T	0.64394	0.2594	N	0.16833	0.445	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	T	0.56282	-0.8005	10	0.06494	T	0.89	.	19.5867	0.95492	0.0:1.0:0.0:0.0	.	142	Q9Y576	ASB1_HUMAN	Y	142	ENSP00000264607:H142Y	ENSP00000264607:H142Y	H	+	1	0	ASB1	239009323	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	5.347000	0.65998	2.633000	0.89246	0.655000	0.94253	CAC		0.637	ASB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328294.1	NM_001040445		5	8	0	0	0	1	0	5	8					T	239344584	C	T	239344584	3	4	435	1	0	0	0	0	1	0	0	0	1013	710	25	3	434	3	ASB1	2	239344584	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	57	239344584	3854789	1605	22530	114	2									
ASB1	51665	broad.mit.edu	37	chr2	239344591	239344591	+	Missense_Mutation	SNP	G	G	A																															caacggaagccggcaccatcGcagcacccctgtctaccacg																										TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:239344591G>A	ENST00000264607.4	+	3	678	c.431G>A	c.(430-432)cGc>cAc	p.R144H	ASB1_ENST00000409297.1_Intron	NM_001040445.1	NP_001035535.1	Q9Y576	ASB1_HUMAN	ankyrin repeat and SOCS box containing 1	144					intracellular signal transduction (GO:0035556)|male genitalia development (GO:0030539)|negative regulation of cytokine biosynthetic process (GO:0042036)|protein ubiquitination (GO:0016567)	intracellular (GO:0005622)				breast(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1)	8		all_epithelial(40;2.65e-14)|Breast(86;7.61e-05)|Renal(207;0.00183)|all_lung(227;0.0283)|Ovarian(221;0.0365)|Lung NSC(271;0.0941)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;2.04e-26)|OV - Ovarian serous cystadenocarcinoma(60;4.5e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;2.88e-05)|Lung(119;0.000383)|LUSC - Lung squamous cell carcinoma(224;0.00644)		CGGCACCATCGCAGCACCCCT	0.652																																						ENST00000264607.4																			0				breast(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1)	8						c.(430-432)cGc>cAc		ankyrin repeat and SOCS box containing 1							36	34	34					2																	239344591		2203	4300	6503	SO:0001583	missense	51665				intracellular signal transduction|negative regulation of cytokine biosynthetic process			g.chr2:239344591G>A	AF156777	CCDS33416.1	2q37	2013-01-10	2011-01-25		ENSG00000065802	ENSG00000065802		"Ankyrin repeat domain containing"	16011	protein-coding gene	gene with protein product		605758	"ankyrin repeat and SOCS box-containing 1"				Standard	XR_241235		Approved	ASB-1	uc002vyg.3	Q9Y576	OTTHUMG00000152866	ENST00000264607.4:c.431G>A	2.37:g.239344591G>A	ENSP00000264607:p.Arg144His					ASB1_ENST00000409297.1_Intron	p.R144H	NM_001040445.1	NP_001035535.1	Q9Y576	ASB1_HUMAN		Epithelial(121;2.04e-26)|OV - Ovarian serous cystadenocarcinoma(60;4.5e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;2.88e-05)|Lung(119;0.000383)|LUSC - Lung squamous cell carcinoma(224;0.00644)	3	678	+		all_epithelial(40;2.65e-14)|Breast(86;7.61e-05)|Renal(207;0.00183)|all_lung(227;0.0283)|Ovarian(221;0.0365)|Lung NSC(271;0.0941)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Hepatocellular(293;0.244)	144					A6NL50|Q4ZG29|Q9ULS4	Missense_Mutation	SNP	ENST00000264607.4	37	c.431G>A	CCDS33416.1	.	.	.	.	.	.	.	.	.	.	G	35	5.478550	0.96291	.	.	ENSG00000065802	ENST00000264607	T	0.64803	-0.12	5.59	5.59	0.84812	Ankyrin repeat-containing domain (4);	0.051976	0.64402	D	0.000001	T	0.74951	0.3784	L	0.41961	1.31	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.75476	-0.3304	10	0.59425	D	0.04	.	19.5867	0.95492	0.0:0.0:1.0:0.0	.	144	Q9Y576	ASB1_HUMAN	H	144	ENSP00000264607:R144H	ENSP00000264607:R144H	R	+	2	0	ASB1	239009330	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.087000	0.76893	2.633000	0.89246	0.655000	0.94253	CGC		0.652	ASB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328294.1	NM_001040445		4	9	0	0	0	1	0	4	9					A	239344591	G	A	239344591	3	1	435	1	0	0	0	0	1	0	0	0	1013	1087	38	1	441	1	ASB1	2	239344591	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	7	239344591	3854782	1606	22531	114	2									
HDAC4	9759	broad.mit.edu	37	chr2	240003880	240003880	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acaggacgctggggtcgctgTagaaagcctgctgggtcccg	7	7	16	11	3	0	1	0	0	0	1	2	2	1	2	2	4	2	4	2	4	2	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:240003880T>C	ENST00000345617.3	-	21	3346	c.2555A>G	c.(2554-2556)tAc>tGc	p.Y852C	HDAC4_ENST00000543185.1_Missense_Mutation_p.Y436C	NM_006037.3	NP_006028.2	P56524	HDAC4_HUMAN	histone deacetylase 4	852	Histone deacetylase.				B cell activation (GO:0042113)|B cell differentiation (GO:0030183)|cardiac muscle hypertrophy in response to stress (GO:0014898)|chromatin remodeling (GO:0006338)|histone deacetylation (GO:0016575)|histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|inflammatory response (GO:0006954)|negative regulation of cell proliferation (GO:0008285)|negative regulation of glycolytic process (GO:0045820)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|osteoblast development (GO:0002076)|peptidyl-lysine deacetylation (GO:0034983)|positive regulation of cell proliferation (GO:0008284)|positive regulation of protein sumoylation (GO:0033235)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of gene expression, epigenetic (GO:0040029)|regulation of protein binding (GO:0043393)|regulation of skeletal muscle fiber development (GO:0048742)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|response to drug (GO:0042493)|response to interleukin-1 (GO:0070555)|skeletal system development (GO:0001501)|transcription, DNA-templated (GO:0006351)	A band (GO:0031672)|actomyosin (GO:0042641)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|histone deacetylase complex (GO:0000118)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)|Z disc (GO:0030018)	activating transcription factor binding (GO:0033613)|core promoter binding (GO:0001047)|histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|potassium ion binding (GO:0030955)|protein deacetylase activity (GO:0033558)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(5)	62		all_epithelial(40;1.45e-17)|Breast(86;1.53e-05)|Renal(207;0.000355)|all_lung(227;0.0121)|Ovarian(221;0.0183)|Lung NSC(271;0.0413)|Melanoma(123;0.0749)|all_hematologic(139;0.159)		Epithelial(121;6.38e-25)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-12)|Kidney(56;6.04e-08)|KIRC - Kidney renal clear cell carcinoma(57;1.18e-06)|BRCA - Breast invasive adenocarcinoma(100;3.99e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.04)		GGGGTCGCTGTAGAAAGCCTG	0.587																																						ENST00000345617.3																			0				NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(5)	62						c.(2554-2556)tAc>tGc		histone deacetylase 4							171	154	160					2																	240003880		2203	4300	6503	SO:0001583	missense	9759				B cell differentiation|cardiac muscle hypertrophy in response to stress|chromatin remodeling|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of glycolysis|negative regulation of myotube differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nervous system development|peptidyl-lysine deacetylation|positive regulation of cell proliferation|positive regulation of protein sumoylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|response to denervation involved in regulation of muscle adaptation|response to interleukin-1|transcription, DNA-dependent	histone deacetylase complex|transcriptional repressor complex	activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|potassium ion binding|repressing transcription factor binding|zinc ion binding	g.chr2:240003880T>C	AB006626	CCDS2529.1	2q37.3	2014-02-12			ENSG00000068024	ENSG00000068024			14063	protein-coding gene	gene with protein product		605314	"brachydactyly-mental retardation syndrome"	BDMR		10206986, 10220385, 20691407	Standard	NM_006037		Approved	KIAA0288, HDAC-A, HDACA, HD4, HA6116, HDAC-4	uc002vyk.4	P56524	OTTHUMG00000133344	ENST00000345617.3:c.2555A>G	2.37:g.240003880T>C	ENSP00000264606:p.Tyr852Cys					HDAC4_ENST00000543185.1_Missense_Mutation_p.Y436C	p.Y852C	NM_006037.3	NP_006028.2	P56524	HDAC4_HUMAN		Epithelial(121;6.38e-25)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-12)|Kidney(56;6.04e-08)|KIRC - Kidney renal clear cell carcinoma(57;1.18e-06)|BRCA - Breast invasive adenocarcinoma(100;3.99e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.04)	21	3346	-		all_epithelial(40;1.45e-17)|Breast(86;1.53e-05)|Renal(207;0.000355)|all_lung(227;0.0121)|Ovarian(221;0.0183)|Lung NSC(271;0.0413)|Melanoma(123;0.0749)|all_hematologic(139;0.159)	852			Histone deacetylase.		Q9UND6	Missense_Mutation	SNP	ENST00000345617.3	37	c.2555A>G	CCDS2529.1	.	.	.	.	.	.	.	.	.	.	t	20.2	3.956659	0.73902	.	.	ENSG00000068024	ENST00000345617;ENST00000456922;ENST00000543185	T;T	0.71934	-0.61;-0.61	3.94	3.94	0.45596	Histone deacetylase domain (2);	0.000000	0.85682	U	0.000000	D	0.90235	0.6947	H	0.99336	4.52	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.93556	0.6891	10	0.87932	D	0	.	13.1341	0.59399	0.0:0.0:0.0:1.0	.	820;852	Q53SM2;P56524	.;HDAC4_HUMAN	C	852;740;436	ENSP00000264606:Y852C;ENSP00000440481:Y436C	ENSP00000264606:Y852C	Y	-	2	0	HDAC4	239668817	1.000000	0.71417	1.000000	0.80357	0.870000	0.49936	7.595000	0.82710	1.584000	0.49913	0.373000	0.22412	TAC		0.587	HDAC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257174.2	NM_006037		30	36	0	0	0	1	0	30	36					C	240003880	T	C	240003880	3	2	435	1	0	0	0	0	1	0	0	0	7009	1638	57	4	727	4	HDAC4	2	240003880	Missense_Mutation	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	659289	240003880	3195493	1607	22532											
HDAC4	9759	broad.mit.edu	37	chr2	240009300	240009300	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtccaggggggcggaccacaGcaaagccattctgcaggtga	10	5	15	11	1	1	1	0	1	1	0	2	2	2	2	3	5	3	2	3	5	1	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:240009300G>T	ENST00000345617.3	-	19	3175	c.2384C>A	c.(2383-2385)gCt>gAt	p.A795D	AC017028.8_ENST00000582701.1_RNA|AC017028.7_ENST00000579869.1_RNA|HDAC4_ENST00000543185.1_Missense_Mutation_p.A379D|MIR4441_ENST00000582623.1_RNA	NM_006037.3	NP_006028.2	P56524	HDAC4_HUMAN	histone deacetylase 4	795	Histone deacetylase.				B cell activation (GO:0042113)|B cell differentiation (GO:0030183)|cardiac muscle hypertrophy in response to stress (GO:0014898)|chromatin remodeling (GO:0006338)|histone deacetylation (GO:0016575)|histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|inflammatory response (GO:0006954)|negative regulation of cell proliferation (GO:0008285)|negative regulation of glycolytic process (GO:0045820)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|osteoblast development (GO:0002076)|peptidyl-lysine deacetylation (GO:0034983)|positive regulation of cell proliferation (GO:0008284)|positive regulation of protein sumoylation (GO:0033235)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of gene expression, epigenetic (GO:0040029)|regulation of protein binding (GO:0043393)|regulation of skeletal muscle fiber development (GO:0048742)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|response to drug (GO:0042493)|response to interleukin-1 (GO:0070555)|skeletal system development (GO:0001501)|transcription, DNA-templated (GO:0006351)	A band (GO:0031672)|actomyosin (GO:0042641)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|histone deacetylase complex (GO:0000118)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)|Z disc (GO:0030018)	activating transcription factor binding (GO:0033613)|core promoter binding (GO:0001047)|histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|potassium ion binding (GO:0030955)|protein deacetylase activity (GO:0033558)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(5)	62		all_epithelial(40;1.45e-17)|Breast(86;1.53e-05)|Renal(207;0.000355)|all_lung(227;0.0121)|Ovarian(221;0.0183)|Lung NSC(271;0.0413)|Melanoma(123;0.0749)|all_hematologic(139;0.159)		Epithelial(121;6.38e-25)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-12)|Kidney(56;6.04e-08)|KIRC - Kidney renal clear cell carcinoma(57;1.18e-06)|BRCA - Breast invasive adenocarcinoma(100;3.99e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.04)		GCGGACCACAGCAAAGCCATT	0.582																																						ENST00000345617.3																			0				NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(5)	62						c.(2383-2385)gCt>gAt		histone deacetylase 4							67	57	61					2																	240009300		2203	4300	6503	SO:0001583	missense	9759				B cell differentiation|cardiac muscle hypertrophy in response to stress|chromatin remodeling|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of glycolysis|negative regulation of myotube differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nervous system development|peptidyl-lysine deacetylation|positive regulation of cell proliferation|positive regulation of protein sumoylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|response to denervation involved in regulation of muscle adaptation|response to interleukin-1|transcription, DNA-dependent	histone deacetylase complex|transcriptional repressor complex	activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|potassium ion binding|repressing transcription factor binding|zinc ion binding	g.chr2:240009300G>T	AB006626	CCDS2529.1	2q37.3	2014-02-12			ENSG00000068024	ENSG00000068024			14063	protein-coding gene	gene with protein product		605314	"brachydactyly-mental retardation syndrome"	BDMR		10206986, 10220385, 20691407	Standard	NM_006037		Approved	KIAA0288, HDAC-A, HDACA, HD4, HA6116, HDAC-4	uc002vyk.4	P56524	OTTHUMG00000133344	ENST00000345617.3:c.2384C>A	2.37:g.240009300G>T	ENSP00000264606:p.Ala795Asp					HDAC4_ENST00000543185.1_Missense_Mutation_p.A379D	p.A795D	NM_006037.3	NP_006028.2	P56524	HDAC4_HUMAN		Epithelial(121;6.38e-25)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-12)|Kidney(56;6.04e-08)|KIRC - Kidney renal clear cell carcinoma(57;1.18e-06)|BRCA - Breast invasive adenocarcinoma(100;3.99e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.04)	19	3175	-		all_epithelial(40;1.45e-17)|Breast(86;1.53e-05)|Renal(207;0.000355)|all_lung(227;0.0121)|Ovarian(221;0.0183)|Lung NSC(271;0.0413)|Melanoma(123;0.0749)|all_hematologic(139;0.159)	795			Histone deacetylase.		Q9UND6	Missense_Mutation	SNP	ENST00000345617.3	37	c.2384C>A	CCDS2529.1	.	.	.	.	.	.	.	.	.	.	g	26.9	4.778029	0.90195	.	.	ENSG00000068024	ENST00000345617;ENST00000456922;ENST00000543185	T;T	0.74209	-0.82;-0.82	3.76	3.76	0.43208	Histone deacetylase domain (2);	0.000000	0.85682	D	0.000000	D	0.92535	0.7629	H	0.99609	4.655	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.96226	0.9164	10	0.87932	D	0	.	16.4579	0.84025	0.0:0.0:1.0:0.0	.	763;795	Q53SM2;P56524	.;HDAC4_HUMAN	D	795;683;379	ENSP00000264606:A795D;ENSP00000440481:A379D	ENSP00000264606:A795D	A	-	2	0	HDAC4	239674237	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.253000	0.95501	2.052000	0.61016	0.558000	0.71614	GCT		0.582	HDAC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257174.2	NM_006037		11	11	1	0	4.7546e-09	1	5.0353e-09	11	11					T	240009300	G	T	240009300	3	4	435	1	0	0	0	0	1	0	0	0	7009	971	34	5	906	5	HDAC4	2	240009300	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	5420	240009300	3190073	1608	22533											
HDAC4	9759	broad.mit.edu	37	chr2	240111765	240111765	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ttgcagaggcagcgccgtggCcacatccactgtgggaaaaa	11	6	13	11	2	0	1	0	0	0	1	1	2	1	2	3	3	2	2	3	3	2	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:240111765C>T	ENST00000345617.3	-	4	894	c.103G>A	c.(103-105)Gcc>Acc	p.A35T	HDAC4_ENST00000541256.1_Missense_Mutation_p.A4T	NM_006037.3	NP_006028.2	P56524	HDAC4_HUMAN	histone deacetylase 4	35					B cell activation (GO:0042113)|B cell differentiation (GO:0030183)|cardiac muscle hypertrophy in response to stress (GO:0014898)|chromatin remodeling (GO:0006338)|histone deacetylation (GO:0016575)|histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|inflammatory response (GO:0006954)|negative regulation of cell proliferation (GO:0008285)|negative regulation of glycolytic process (GO:0045820)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|osteoblast development (GO:0002076)|peptidyl-lysine deacetylation (GO:0034983)|positive regulation of cell proliferation (GO:0008284)|positive regulation of protein sumoylation (GO:0033235)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of gene expression, epigenetic (GO:0040029)|regulation of protein binding (GO:0043393)|regulation of skeletal muscle fiber development (GO:0048742)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|response to drug (GO:0042493)|response to interleukin-1 (GO:0070555)|skeletal system development (GO:0001501)|transcription, DNA-templated (GO:0006351)	A band (GO:0031672)|actomyosin (GO:0042641)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|histone deacetylase complex (GO:0000118)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)|Z disc (GO:0030018)	activating transcription factor binding (GO:0033613)|core promoter binding (GO:0001047)|histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|potassium ion binding (GO:0030955)|protein deacetylase activity (GO:0033558)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(5)	62		all_epithelial(40;1.45e-17)|Breast(86;1.53e-05)|Renal(207;0.000355)|all_lung(227;0.0121)|Ovarian(221;0.0183)|Lung NSC(271;0.0413)|Melanoma(123;0.0749)|all_hematologic(139;0.159)		Epithelial(121;6.38e-25)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-12)|Kidney(56;6.04e-08)|KIRC - Kidney renal clear cell carcinoma(57;1.18e-06)|BRCA - Breast invasive adenocarcinoma(100;3.99e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.04)		AGCGCCGTGGCCACATCCACT	0.672																																						ENST00000345617.3																			0				NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(5)	62						c.(103-105)Gcc>Acc		histone deacetylase 4							15	17	16					2																	240111765		2137	4148	6285	SO:0001583	missense	9759				B cell differentiation|cardiac muscle hypertrophy in response to stress|chromatin remodeling|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of glycolysis|negative regulation of myotube differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nervous system development|peptidyl-lysine deacetylation|positive regulation of cell proliferation|positive regulation of protein sumoylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|response to denervation involved in regulation of muscle adaptation|response to interleukin-1|transcription, DNA-dependent	histone deacetylase complex|transcriptional repressor complex	activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|potassium ion binding|repressing transcription factor binding|zinc ion binding	g.chr2:240111765C>T	AB006626	CCDS2529.1	2q37.3	2014-02-12			ENSG00000068024	ENSG00000068024			14063	protein-coding gene	gene with protein product		605314	"brachydactyly-mental retardation syndrome"	BDMR		10206986, 10220385, 20691407	Standard	NM_006037		Approved	KIAA0288, HDAC-A, HDACA, HD4, HA6116, HDAC-4	uc002vyk.4	P56524	OTTHUMG00000133344	ENST00000345617.3:c.103G>A	2.37:g.240111765C>T	ENSP00000264606:p.Ala35Thr					HDAC4_ENST00000541256.1_Missense_Mutation_p.A4T	p.A35T	NM_006037.3	NP_006028.2	P56524	HDAC4_HUMAN		Epithelial(121;6.38e-25)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-12)|Kidney(56;6.04e-08)|KIRC - Kidney renal clear cell carcinoma(57;1.18e-06)|BRCA - Breast invasive adenocarcinoma(100;3.99e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.04)	4	894	-		all_epithelial(40;1.45e-17)|Breast(86;1.53e-05)|Renal(207;0.000355)|all_lung(227;0.0121)|Ovarian(221;0.0183)|Lung NSC(271;0.0413)|Melanoma(123;0.0749)|all_hematologic(139;0.159)	35					Q9UND6	Missense_Mutation	SNP	ENST00000345617.3	37	c.103G>A	CCDS2529.1	.	.	.	.	.	.	.	.	.	.	C	7.507	0.653896	0.14580	.	.	ENSG00000068024	ENST00000345617;ENST00000541256;ENST00000454542;ENST00000446876	T;T;T;T	0.57907	0.37;1.53;0.95;0.96	4.46	3.31	0.37934	.	0.306715	0.31370	N	0.007767	T	0.24122	0.0584	N	0.08118	0	0.80722	D	1	B;B;B;B	0.06786	0.0;0.0;0.001;0.0	B;B;B;B	0.08055	0.001;0.003;0.001;0.0	T	0.13019	-1.0525	9	.	.	.	.	3.3305	0.07083	0.0:0.5839:0.0:0.4161	.	30;4;4;35	B7Z8G5;F5H5W4;B7Z8I2;P56524	.;.;.;HDAC4_HUMAN	T	35;4;4;8	ENSP00000264606:A35T;ENSP00000443057:A4T;ENSP00000405226:A4T;ENSP00000392912:A8T	.	A	-	1	0	HDAC4	239776702	0.993000	0.37304	0.901000	0.35422	0.115000	0.19883	2.377000	0.44300	2.216000	0.71823	0.650000	0.86243	GCC		0.672	HDAC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257174.2	NM_006037		9	12	0	0	0	1	0	9	12					T	240111765	C	T	240111765	3	4	435	1	0	0	0	0	1	0	0	0	7009	739	26	3	3247	3	HDAC4	2	240111765	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	102465	240111765	3087608	1609	22534											
MYEOV2	150678	broad.mit.edu	37	chr2	241069404	241069404	+	IGR	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gccctcgctgcagtgcgggaAccatggaggactgctggctt	6	8	15	12	2	0	0	0	0	0	0	1	3	0	3	2	4	4	4	2	4	1	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:241069404A>G	ENST00000607357.1	-	0	418				MYEOV2_ENST00000307266.3_Missense_Mutation_p.V102A|MYEOV2_ENST00000489698.1_5'Flank	NM_001163424.1	NP_001156896.1	Q8WXC6	MYOV2_HUMAN	myeloma overexpressed 2											breast(1)|lung(5)|pancreas(1)	7		all_epithelial(40;1.56e-11)|Breast(86;0.0002)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.229)|Melanoma(123;0.238)		Epithelial(121;3.81e-30)|all cancers(36;1.1e-27)|OV - Ovarian serous cystadenocarcinoma(60;2.74e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;8.54e-06)|Lung(119;0.00361)|LUSC - Lung squamous cell carcinoma(224;0.0153)|Colorectal(34;0.0202)|COAD - Colon adenocarcinoma(134;0.143)		CAGTGCGGGAACCATGGAGGA	0.602																																						ENST00000307266.3																			0				breast(1)|lung(5)|pancreas(1)	7						c.(304-306)gTt>gCt		myeloma overexpressed 2							68	53	58					2																	241069404		2203	4300	6503	SO:0001628	intergenic_variant	150678							g.chr2:241069404A>G	AF453951	CCDS2532.1, CCDS63183.1	2q37.3	2008-02-05			ENSG00000172428	ENSG00000172428			21314	protein-coding gene	gene with protein product							Standard	NM_138336		Approved		uc002vyu.1	Q8WXC6	OTTHUMG00000133352		2.37:g.241069404A>G							p.V102A	NM_138336.1	NP_612209.1	Q8WXC6	MYOV2_HUMAN		Epithelial(121;3.81e-30)|all cancers(36;1.1e-27)|OV - Ovarian serous cystadenocarcinoma(60;2.74e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;8.54e-06)|Lung(119;0.00361)|LUSC - Lung squamous cell carcinoma(224;0.0153)|Colorectal(34;0.0202)|COAD - Colon adenocarcinoma(134;0.143)	4	304	-		all_epithelial(40;1.56e-11)|Breast(86;0.0002)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.229)|Melanoma(123;0.238)	0					Q8N110	Missense_Mutation	SNP	ENST00000607357.1	37	c.305T>C		.	.	.	.	.	.	.	.	.	.	A	2.062	-0.415158	0.04766	.	.	ENSG00000172428	ENST00000307266	.	.	.	1.56	-3.13	0.05266	.	.	.	.	.	T	0.27832	0.0685	.	.	.	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.14172	-1.0482	7	0.87932	D	0	.	4.7067	0.12853	0.2312:0.4441:0.3247:0.0	.	102	Q8WXC6-1	.	A	102	.	ENSP00000304147:V102A	V	-	2	0	MYEOV2	240718077	0.002000	0.14202	0.000000	0.03702	0.003000	0.03518	-0.336000	0.07863	-1.885000	0.01118	-0.496000	0.04628	GTT		0.602	MYEOV2-005	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000470698.1	NM_138336		9	17	0	0	0	1	0	9	17					G	241069404	A	G	241069404	1	3	435	0	1	0	0	0	0	0	0	0	10026	43	2	4		4	MYEOV2	2	241069404	IGR	SNP	A	TCGA-XK-AAIW-01A-11D-A41K-08	957639	241069404	2129969	1610	22535											
OTOS	150677	broad.mit.edu	37	chr2	241078658	241078658	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gtgggcaaagaaggttcgggCcatgtcctcgatctgggggt	7	9	17	8	2	1	1	0	0	1	1	4	2	2	1	2	5	0	2	2	5	2	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:241078658C>T	ENST00000391989.2	-	5	429	c.199G>A	c.(199-201)Gcc>Acc	p.A67T	MYEOV2_ENST00000307266.3_5'Flank|OTOS_ENST00000319460.1_Missense_Mutation_p.A67T|MYEOV2_ENST00000607357.1_5'Flank			Q8NHW6	OTOSP_HUMAN	otospiralin	67					sensory perception of sound (GO:0007605)	extracellular region (GO:0005576)				endometrium(2)|large_intestine(1)|lung(3)	6		all_epithelial(40;2.79e-15)|Breast(86;3.04e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0396)|Lung NSC(271;0.128)|Hepatocellular(293;0.148)|all_hematologic(139;0.158)|Melanoma(123;0.16)		Epithelial(32;2.56e-30)|all cancers(36;7.18e-28)|OV - Ovarian serous cystadenocarcinoma(60;2.37e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;8.07e-06)|Lung(119;0.00344)|LUSC - Lung squamous cell carcinoma(224;0.0148)|Colorectal(34;0.019)|COAD - Colon adenocarcinoma(134;0.141)		AAGGTTCGGGCCATGTCCTCG	0.637																																						ENST00000391989.2																			0				endometrium(2)|large_intestine(1)|lung(3)	6						c.(199-201)Gcc>Acc		otospiralin							75	77	76					2																	241078658		2203	4300	6503	SO:0001583	missense	150677					extracellular region		g.chr2:241078658C>T		CCDS2533.1	2q37.3	2008-02-05			ENSG00000178602	ENSG00000178602			22644	protein-coding gene	gene with protein product		607877				12687421	Standard	NM_148961		Approved	OTOSP	uc002vyv.3	Q8NHW6	OTTHUMG00000133351	ENST00000391989.2:c.199G>A	2.37:g.241078658C>T	ENSP00000375849:p.Ala67Thr					OTOS_ENST00000319460.1_Missense_Mutation_p.A67T	p.A67T			Q8NHW6	OTOSP_HUMAN		Epithelial(32;2.56e-30)|all cancers(36;7.18e-28)|OV - Ovarian serous cystadenocarcinoma(60;2.37e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;8.07e-06)|Lung(119;0.00344)|LUSC - Lung squamous cell carcinoma(224;0.0148)|Colorectal(34;0.019)|COAD - Colon adenocarcinoma(134;0.141)	5	429	-		all_epithelial(40;2.79e-15)|Breast(86;3.04e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0396)|Lung NSC(271;0.128)|Hepatocellular(293;0.148)|all_hematologic(139;0.158)|Melanoma(123;0.16)	67					Q53SW6	Missense_Mutation	SNP	ENST00000391989.2	37	c.199G>A	CCDS2533.1	.	.	.	.	.	.	.	.	.	.	C	17.83	3.485079	0.63962	.	.	ENSG00000178602	ENST00000391989;ENST00000319460	T;T	0.61158	0.13;0.13	3.49	3.49	0.39957	.	0.000000	0.85682	D	0.000000	T	0.74442	0.3717	.	.	.	0.53005	D	0.999963	D	0.89917	1.0	D	0.83275	0.996	T	0.78800	-0.2062	9	0.87932	D	0	-6.8904	12.8596	0.57906	0.0:1.0:0.0:0.0	.	67	Q8NHW6	OTOSP_HUMAN	T	67	ENSP00000375849:A67T;ENSP00000322486:A67T	ENSP00000322486:A67T	A	-	1	0	OTOS	240727331	1.000000	0.71417	0.999000	0.59377	0.304000	0.27724	6.661000	0.74422	1.688000	0.51068	0.205000	0.17691	GCC		0.637	OTOS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257181.3	NM_148961		16	28	0	0	0	1	0	16	28					T	241078658	C	T	241078658	3	4	435	1	0	0	0	0	1	0	0	0	11309	739	26	3	74	3	OTOS	2	241078658	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	9254	241078658	2120715	1611	22536											
GPC1	2817	broad.mit.edu	37	chr2	241401798	241401798	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctgggcccgcctgctcgaGcgcctcttcaagcagctgca	5	9	11	16	3	3	0	1	0	2	0	4	1	3	0	3	1	5	4	3	1	1	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:241401798G>A	ENST00000264039.2	+	3	764	c.516G>A	c.(514-516)gaG>gaA	p.E172E		NM_002081.2	NP_002072.2	P35052	GPC1_HUMAN	glypican 1	172					axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan catabolic process (GO:0030200)|myelin assembly (GO:0032288)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|phototransduction, visible light (GO:0007603)|positive regulation of skeletal muscle cell differentiation (GO:2001016)|retinoid metabolic process (GO:0001523)|Schwann cell differentiation (GO:0014037)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	copper ion binding (GO:0005507)|fibroblast growth factor binding (GO:0017134)|laminin binding (GO:0043236)			breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(4)|prostate(1)	9		all_epithelial(40;2.79e-15)|Breast(86;2.41e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0335)|Lung NSC(271;0.106)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;4.51e-33)|all cancers(36;1.74e-30)|OV - Ovarian serous cystadenocarcinoma(60;4.73e-15)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;9.1e-06)|Colorectal(34;0.000487)|Lung(119;0.0013)|LUSC - Lung squamous cell carcinoma(224;0.0154)|COAD - Colon adenocarcinoma(134;0.0194)|READ - Rectum adenocarcinoma(96;0.0949)		GCCTGCTCGAGCGCCTCTTCA	0.692																																						ENST00000264039.2																			0				breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(4)|prostate(1)	9						c.(514-516)gaG>gaA		glypican 1							11	12	12					2																	241401798		2168	4278	6446	SO:0001819	synonymous_variant	2817				axon guidance	anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding	g.chr2:241401798G>A	AK095397	CCDS2534.1	2q35-q37	2008-02-05			ENSG00000063660	ENSG00000063660		"Proteoglycans / Cell Surface : Glypicans"	4449	protein-coding gene	gene with protein product	"glypican proteoglycan 1"	600395				7774946	Standard	NM_002081		Approved	glypican	uc002vyw.4	P35052	OTTHUMG00000133349	ENST00000264039.2:c.516G>A	2.37:g.241401798G>A							p.E172E	NM_002081.2	NP_002072.2	P35052	GPC1_HUMAN		Epithelial(32;4.51e-33)|all cancers(36;1.74e-30)|OV - Ovarian serous cystadenocarcinoma(60;4.73e-15)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;9.1e-06)|Colorectal(34;0.000487)|Lung(119;0.0013)|LUSC - Lung squamous cell carcinoma(224;0.0154)|COAD - Colon adenocarcinoma(134;0.0194)|READ - Rectum adenocarcinoma(96;0.0949)	3	764	+		all_epithelial(40;2.79e-15)|Breast(86;2.41e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0335)|Lung NSC(271;0.106)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)	172					B3KTD1|Q53QM4	Silent	SNP	ENST00000264039.2	37	c.516G>A	CCDS2534.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	9.477|9.477	1.097227|1.097227	0.20552|0.20552	.|.	.|.	ENSG00000063660|ENSG00000063660	ENST00000420138|ENST00000427506;ENST00000425056	.|.	.|.	.|.	3.1|3.1	0.0685|0.0685	0.14370|0.14370	.|.	.|.	.|.	.|.	.|.	T|T	0.53481|0.53481	0.1799|0.1799	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.42085|0.42085	-0.9472|-0.9472	4|4	.|.	.|.	.|.	-27.9407|-27.9407	7.1912|7.1912	0.25826|0.25826	0.3406:0.0:0.6594:0.0|0.3406:0.0:0.6594:0.0	.|.	.|.	.|.	.|.	T|N	212|129;168	.|.	.|.	A|S	+|+	1|2	0|0	GPC1|GPC1	241050471|241050471	1.000000|1.000000	0.71417|0.71417	0.990000|0.990000	0.47175|0.47175	0.974000|0.974000	0.67602|0.67602	1.102000|1.102000	0.31050|0.31050	-0.115000|-0.115000	0.11915|0.11915	-0.235000|-0.235000	0.12190|0.12190	GCG|AGC		0.692	GPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257179.3	NM_002081		4	6	0	0	0	1	0	4	6					A	241401798	G	A	241401798	2	1	435	1	0	0	0	0	0	0	0	1	6597	962	34	3		3	GPC1	2	241401798	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	323140	241401798	1797575	1612	22537											
ANKMY1	51281	broad.mit.edu	37	chr2	241465186	241465186	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aggaaacacatgctgagtgcCgtgagaccctcatctgagca	12	7	11	11	1	2	3	1	3	1	1	2	5	2	4	2	1	4	2	2	1	1	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:241465186C>T	ENST00000272972.3	-	6	1198	c.984G>A	c.(982-984)acG>acA	p.T328T	ANKMY1_ENST00000406958.1_Silent_p.T187T|ANKMY1_ENST00000405002.1_Silent_p.T98T|ANKMY1_ENST00000536462.1_Silent_p.T140T|ANKMY1_ENST00000373318.2_Silent_p.T187T|ANKMY1_ENST00000405523.3_Silent_p.T187T|ANKMY1_ENST00000462004.1_5'Flank|ANKMY1_ENST00000401804.1_Silent_p.T417T|ANKMY1_ENST00000391987.1_Silent_p.T328T|ANKMY1_ENST00000373320.4_Silent_p.T98T|ANKMY1_ENST00000361678.4_Silent_p.T187T|ANKMY1_ENST00000403283.1_Silent_p.T266T	NM_016552.2	NP_057636.2	Q9P2S6	ANKY1_HUMAN	ankyrin repeat and MYND domain containing 1	328							metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	30		all_epithelial(40;2.79e-15)|Breast(86;2.41e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0335)|Lung NSC(271;0.106)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;1.03e-30)|all cancers(36;4.78e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.45e-14)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.8e-06)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.01)|Colorectal(34;0.0101)|COAD - Colon adenocarcinoma(134;0.0476)		TGCTGAGTGCCGTGAGACCCT	0.592																																						ENST00000391987.1																			0				central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	30						c.(982-984)acG>acA		ankyrin repeat and MYND domain containing 1							179	148	159					2																	241465186		2203	4300	6503	SO:0001819	synonymous_variant	51281						zinc ion binding	g.chr2:241465186C>T	AB034636	CCDS2535.1, CCDS2536.1, CCDS63184.1, CCDS63185.1, CCDS74681.1	2q37.3	2013-01-10			ENSG00000144504	ENSG00000144504		"Zinc fingers, MYND-type", "Ankyrin repeat domain containing"	20987	protein-coding gene	gene with protein product							Standard	XM_005247020		Approved	FLJ20499, ZMYND13	uc002vyz.1	Q9P2S6	OTTHUMG00000133355	ENST00000272972.3:c.984G>A	2.37:g.241465186C>T						ANKMY1_ENST00000373318.2_Silent_p.T187T|ANKMY1_ENST00000373320.4_Silent_p.T98T|ANKMY1_ENST00000403283.1_Silent_p.T266T|ANKMY1_ENST00000536462.1_Silent_p.T140T|ANKMY1_ENST00000401804.1_Silent_p.T417T|ANKMY1_ENST00000406958.1_Silent_p.T187T|ANKMY1_ENST00000361678.4_Silent_p.T187T|ANKMY1_ENST00000272972.3_Silent_p.T328T|ANKMY1_ENST00000405523.3_Silent_p.T187T|ANKMY1_ENST00000405002.1_Silent_p.T98T	p.T328T			Q9P2S6	ANKY1_HUMAN		Epithelial(32;1.03e-30)|all cancers(36;4.78e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.45e-14)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.8e-06)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.01)|Colorectal(34;0.0101)|COAD - Colon adenocarcinoma(134;0.0476)	7	1350	-		all_epithelial(40;2.79e-15)|Breast(86;2.41e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0335)|Lung NSC(271;0.106)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)	328					B2RB78|Q4ZFV3|Q8IYX5|Q8NDK5|Q9H0V8|Q9NX10	Silent	SNP	ENST00000272972.3	37	c.984G>A	CCDS2536.1																																																																																				0.592	ANKMY1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000257187.2	NM_017844		6	21	0	0	0	1	0	6	21					T	241465186	C	T	241465186	2	4	435	1	0	0	0	0	0	0	0	1	634	639	23	2		2	ANKMY1	2	241465186	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	63388	241465186	1734187	1613	22538											
CAPN10	11132	broad.mit.edu	37	chr2	241535745	241535745	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cgtgctcacaggtagagaagCggcgggtcaatctgcctagg	9	7	15	10	3	3	1	2	0	1	1	3	2	3	1	1	4	3	2	1	4	4	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:241535745C>T	ENST00000391984.2	+	8	1484	c.1288C>T	c.(1288-1290)Cgg>Tgg	p.R430W	CAPN10_ENST00000270364.7_Intron|CAPN10_ENST00000354082.4_Intron|CAPN10_ENST00000352879.4_Intron|CAPN10_ENST00000404753.3_Missense_Mutation_p.R430W	NM_023083.3	NP_075571	Q9HC96	CAN10_HUMAN	calpain 10	430	Domain III 1.				actin cytoskeleton reorganization (GO:0031532)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to insulin stimulus (GO:0032869)|positive regulation of glucose import (GO:0046326)|positive regulation of insulin secretion (GO:0032024)|positive regulation of intracellular transport (GO:0032388)|positive regulation of type B pancreatic cell apoptotic process (GO:2000676)|proteolysis (GO:0006508)|type B pancreatic cell apoptotic process (GO:0097050)	cell (GO:0005623)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|cytoskeletal protein binding (GO:0008092)|SNARE binding (GO:0000149)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|urinary_tract(1)	27		all_epithelial(40;1.72e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|all_neural(83;0.0459)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;1.13e-31)|all cancers(36;3.24e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.82e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.1e-06)|Lung(119;0.00168)|Colorectal(34;0.00495)|LUSC - Lung squamous cell carcinoma(224;0.00813)|COAD - Colon adenocarcinoma(134;0.032)		GGTAGAGAAGCGGCGGGTCAA	0.662																																						ENST00000391984.2																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|urinary_tract(1)	27						c.(1288-1290)Cgg>Tgg		calpain 10							44	49	48					2																	241535745		1981	4140	6121	SO:0001583	missense	11132				actin cytoskeleton reorganization|cellular response to insulin stimulus|positive regulation of apoptosis|positive regulation of glucose import|positive regulation of insulin secretion|positive regulation of intracellular transport|proteolysis	cytosol|plasma membrane	calcium-dependent cysteine-type endopeptidase activity|cytoskeletal protein binding|SNARE binding	g.chr2:241535745C>T	AF089088	CCDS33420.1, CCDS42838.1	2q37.3	2008-05-22			ENSG00000142330	ENSG00000142330			1477	protein-coding gene	gene with protein product		605286				11017071, 11018080	Standard	NM_023083		Approved		uc002vzk.2	Q9HC96	OTTHUMG00000133358	ENST00000391984.2:c.1288C>T	2.37:g.241535745C>T	ENSP00000375844:p.Arg430Trp					CAPN10_ENST00000352879.4_Intron|CAPN10_ENST00000404753.3_Missense_Mutation_p.R430W|CAPN10_ENST00000270364.7_Intron|CAPN10_ENST00000354082.4_Intron	p.R430W	NM_023083.3	NP_075571.1	Q9HC96	CAN10_HUMAN		Epithelial(32;1.13e-31)|all cancers(36;3.24e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.82e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.1e-06)|Lung(119;0.00168)|Colorectal(34;0.00495)|LUSC - Lung squamous cell carcinoma(224;0.00813)|COAD - Colon adenocarcinoma(134;0.032)	8	1484	+		all_epithelial(40;1.72e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|all_neural(83;0.0459)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)	430			Domain III 1.		A8MVS7|Q4ZFV1|Q8NCD4|Q96IG4|Q96JI2|Q9HC89|Q9HC90|Q9HC91|Q9HC92|Q9HC93|Q9HC94|Q9HC95	Missense_Mutation	SNP	ENST00000391984.2	37	c.1288C>T	CCDS42838.1	.	.	.	.	.	.	.	.	.	.	C	18.02	3.531177	0.64972	.	.	ENSG00000142330	ENST00000391984;ENST00000404753	T;T	0.44881	0.91;0.91	4.14	3.08	0.35506	Peptidase C2, calpain, large subunit, domain III (2);Peptidase C2, calpain, domain III (1);	0.517167	0.18023	N	0.154171	T	0.57770	0.2076	M	0.69185	2.1	0.80722	D	1	D;D	0.76494	0.999;0.999	P;D	0.67900	0.873;0.954	T	0.61412	-0.7068	10	0.87932	D	0	.	10.3087	0.43695	0.2442:0.7558:0.0:0.0	.	430;430	B7WPF5;Q9HC96	.;CAN10_HUMAN	W	430	ENSP00000375844:R430W;ENSP00000384422:R430W	ENSP00000349556:R430W	R	+	1	2	CAPN10	241184418	1.000000	0.71417	1.000000	0.80357	0.489000	0.33432	2.838000	0.48199	2.014000	0.59158	0.563000	0.77884	CGG		0.662	CAPN10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257191.3	NM_023083		15	22	0	0	0	1	0	15	22					T	241535745	C	T	241535745	3	4	435	1	0	0	0	0	1	0	0	0	2623	759	27	1	1318	1	CAPN10	2	241535745	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	70559	241535745	1663628	1614	22539											
CAPN10	2859	broad.mit.edu	37	chr2	241555812	241555812	+	5'UTR	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attcccctcctaggtctcttGccctgtgcagcttcctgcag	4	13	8	16	0	1	0	0	0	1	0	5	0	4	0	5	1	4	3	5	1	1	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:241555812G>A	ENST00000319838.5	+	0	374				GPR35_ENST00000403859.1_5'UTR|CAPN10_ENST00000270364.7_Missense_Mutation_p.C94Y|GPR35_ENST00000438013.2_5'UTR	NM_001195381.1	NP_001182310.1	Q9HC97	GPR35_HUMAN	G protein-coupled receptor 35						G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(1)|cervix(1)|endometrium(1)|lung(7)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	17		all_epithelial(40;7.49e-12)|Breast(86;0.000148)|Renal(207;0.00571)|Ovarian(221;0.104)|all_neural(83;0.107)|all_hematologic(139;0.182)|all_lung(227;0.186)|Melanoma(123;0.238)		Epithelial(32;5.29e-32)|all cancers(36;1.38e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.13e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.02e-06)|Lung(119;0.00163)|Colorectal(34;0.00463)|LUSC - Lung squamous cell carcinoma(224;0.008)|COAD - Colon adenocarcinoma(134;0.031)		TAGGTCTCttgccctgtgcag	0.582																																						ENST00000270364.7																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|urinary_tract(1)	27						c.(280-282)tGc>tAc		calpain 10							189	205	200					2																	241555812		2203	4300	6503	SO:0001623	5_prime_UTR_variant	11132				actin cytoskeleton reorganization|cellular response to insulin stimulus|positive regulation of apoptosis|positive regulation of glucose import|positive regulation of insulin secretion|positive regulation of intracellular transport|proteolysis	cytosol|plasma membrane	calcium-dependent cysteine-type endopeptidase activity|cytoskeletal protein binding|SNARE binding	g.chr2:241555812G>A		CCDS2541.1, CCDS56174.1	2q37.3	2012-08-21			ENSG00000178623	ENSG00000178623		"GPCR / Class A : Orphans"	4492	protein-coding gene	gene with protein product		602646				9479505	Standard	NM_005301		Approved		uc021vze.1	Q9HC97	OTTHUMG00000133356	ENST00000319838.5:c.-569G>A	2.37:g.241555812G>A						GPR35_ENST00000319838.5_5'UTR|GPR35_ENST00000403859.1_5'UTR|GPR35_ENST00000438013.2_5'UTR	p.C94Y			Q9HC96	CAN10_HUMAN		Epithelial(32;1.13e-31)|all cancers(36;3.24e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.82e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.1e-06)|Lung(119;0.00168)|Colorectal(34;0.00495)|LUSC - Lung squamous cell carcinoma(224;0.00813)|COAD - Colon adenocarcinoma(134;0.032)	3	421	+		all_epithelial(40;1.72e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|all_neural(83;0.0459)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)	94			Calpain catalytic.		J3KR30|O43495|Q17R58|Q4VBN5|Q4ZFV2|Q6FHI8|Q86UH4	Missense_Mutation	SNP	ENST00000319838.5	37	c.281G>A	CCDS2541.1	.	.	.	.	.	.	.	.	.	.	G	2.304	-0.359543	0.05138	.	.	ENSG00000142330	ENST00000270364	T	0.39056	1.1	0.199	0.199	0.15175	.	.	.	.	.	T	0.27205	0.0667	.	.	.	0.09310	N	1	B	0.27264	0.173	B	0.08055	0.003	T	0.21177	-1.0253	7	0.87932	D	0	.	.	.	.	.	94	Q9HC96-7	.	Y	94	ENSP00000270364:C94Y	ENSP00000270364:C94Y	C	+	2	0	CAPN10	241204485	0.010000	0.17322	0.023000	0.16930	0.023000	0.10783	0.655000	0.24933	0.300000	0.22699	0.306000	0.20318	TGC		0.582	GPR35-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000325631.1	NM_001195382		92	148	0	0	0	1	0	92	148					A	241555812	G	A	241555812	1	1	435	0	1	0	0	0	0	0	0	0	2623	1319	46	3		3	CAPN10	2	241555812	5'UTR	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	20067	241555812	1643561	1615	22540											
AQP12A	375318	broad.mit.edu	37	chr2	241631739	241631739	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgcctctgctgggcctgggaGctcagtgacctgcacctgct	4	9	13	15	1	2	1	1	1	1	0	2	2	2	2	4	2	4	4	4	2	0	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:241631739G>A	ENST00000337801.4	+	2	441	c.372G>A	c.(370-372)gaG>gaA	p.E124E	AC011298.2_ENST00000407635.2_lincRNA|AQP12A_ENST00000429564.1_Silent_p.E136E	NM_198998.2	NP_945349.1	Q8IXF9	AQ12A_HUMAN	aquaporin 12A	124						integral component of membrane (GO:0016021)	transporter activity (GO:0005215)			endometrium(2)|kidney(3)|large_intestine(2)|lung(7)	14		all_epithelial(40;7.49e-12)|Breast(86;0.000148)|Renal(207;0.00571)|Ovarian(221;0.104)|all_neural(83;0.107)|all_hematologic(139;0.182)|all_lung(227;0.186)|Melanoma(123;0.238)		Epithelial(32;2.2e-31)|all cancers(36;1.08e-28)|OV - Ovarian serous cystadenocarcinoma(60;2.13e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.52e-06)|Lung(119;0.00163)|LUSC - Lung squamous cell carcinoma(224;0.008)|Colorectal(34;0.0124)|COAD - Colon adenocarcinoma(134;0.0757)		GGGCCTGGGAGCTCAGTGACC	0.706																																						ENST00000429564.1																			0				endometrium(2)|kidney(3)|large_intestine(2)|lung(7)	14						c.(406-408)gaG>gaA		aquaporin 12A							15	22	20					2																	241631739		2053	4247	6300	SO:0001819	synonymous_variant	375318					integral to membrane	transporter activity	g.chr2:241631739G>A	AB040748		2q37.3	2013-06-03	2005-05-26	2005-05-26	ENSG00000184945	ENSG00000184945		"Ion channels / Aquaporins"	19941	protein-coding gene	gene with protein product		609789	"aquaporin 12"	AQP12			Standard	NM_198998		Approved		uc002vzu.3	Q8IXF9	OTTHUMG00000183906	ENST00000337801.4:c.372G>A	2.37:g.241631739G>A						AQP12A_ENST00000337801.4_Silent_p.E124E	p.E136E			Q8IXF9	AQ12A_HUMAN		Epithelial(32;2.2e-31)|all cancers(36;1.08e-28)|OV - Ovarian serous cystadenocarcinoma(60;2.13e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.52e-06)|Lung(119;0.00163)|LUSC - Lung squamous cell carcinoma(224;0.008)|Colorectal(34;0.0124)|COAD - Colon adenocarcinoma(134;0.0757)	2	471	+		all_epithelial(40;7.49e-12)|Breast(86;0.000148)|Renal(207;0.00571)|Ovarian(221;0.104)|all_neural(83;0.107)|all_hematologic(139;0.182)|all_lung(227;0.186)|Melanoma(123;0.238)	124						Silent	SNP	ENST00000337801.4	37	c.408G>A																																																																																					0.706	AQP12A-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000257185.2	NM_198998		10	6	0	0	0	1	0	10	6					A	241631739	G	A	241631739	2	1	435	1	0	0	0	0	0	0	0	1	824	962	34	3		3	AQP12A	2	241631739	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	75927	241631739	1567634	1616	22541											
KIF1A	547	broad.mit.edu	37	chr2	241683366	241683366	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagggcgctaacctgagcaCgtccttgcagaggggcggga	8	5	16	12	3	0	2	0	1	0	1	1	3	1	3	3	4	3	3	3	4	1	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:241683366C>T	ENST00000320389.7	-	31	3432	c.3274G>A	c.(3274-3276)Gtg>Atg	p.V1092M	KIF1A_ENST00000498729.2_Missense_Mutation_p.V1193M	NM_004321.6	NP_004312.2	Q12756	KIF1A_HUMAN	kinesin family member 1A	1092					anterograde axon cargo transport (GO:0008089)|ATP catabolic process (GO:0006200)|cell death (GO:0008219)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|motor activity (GO:0003774)|plus-end-directed microtubule motor activity (GO:0008574)			NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)		AACCTGAGCACGTCCTTGCAG	0.587																																						ENST00000498729.2																			0				NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66						c.(3577-3579)Gtg>Atg		kinesin family member 1A							91	101	98					2																	241683366		1973	4138	6111	SO:0001583	missense	547				anterograde axon cargo transport	cytoplasm|microtubule|nucleus	ATP binding|microtubule motor activity	g.chr2:241683366C>T	AF004425	CCDS46561.1, CCDS58757.1	2q37.2	2014-09-17	2004-01-09	2004-01-14	ENSG00000130294	ENSG00000130294		"Kinesins", "Pleckstrin homology (PH) domain containing"	888	protein-coding gene	gene with protein product		601255	"axonal transport of synaptic vesicles", "chromosome 2 open reading frame 20", "spastic paraplegia 30 (autosomal recessive)"	ATSV, C2orf20, SPG30		7539720, 10323250, 22258533	Standard	NM_001244008		Approved	UNC104	uc010fzk.3	Q12756	OTTHUMG00000151940	ENST00000320389.7:c.3274G>A	2.37:g.241683366C>T	ENSP00000322791:p.Val1092Met					KIF1A_ENST00000320389.7_Missense_Mutation_p.V1092M	p.V1193M	NM_001244008.1	NP_001230937.1	Q12756	KIF1A_HUMAN		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)	33	3823	-		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)	1092					B0I1S5|F5H045|O95068|Q13355|Q14752|Q2NKJ6|Q4LE42|Q53T78|Q59GH1|Q63Z40|Q6P1R9|Q7KZ57	Missense_Mutation	SNP	ENST00000320389.7	37	c.3577G>A	CCDS46561.1	.	.	.	.	.	.	.	.	.	.	C	9.309	1.055160	0.19907	.	.	ENSG00000130294	ENST00000320389;ENST00000498729;ENST00000373308;ENST00000404283	T;T;T	0.73789	-0.78;-0.78;-0.78	4.91	4.91	0.64330	.	0.151430	0.42682	U	0.000670	T	0.58148	0.2102	N	0.11427	0.14	0.37630	D	0.921644	D;D;B	0.59357	0.966;0.985;0.443	B;B;B	0.40901	0.187;0.343;0.02	T	0.67138	-0.5746	10	0.37606	T	0.19	.	18.0948	0.89485	0.0:1.0:0.0:0.0	.	1193;1193;1092	F5H045;Q12756-2;Q12756	.;.;KIF1A_HUMAN	M	1092;1193;1193;1193	ENSP00000322791:V1092M;ENSP00000438388:V1193M;ENSP00000384231:V1193M	ENSP00000322791:V1092M	V	-	1	0	KIF1A	241332039	0.729000	0.28090	0.989000	0.46669	0.006000	0.05464	1.152000	0.31663	2.270000	0.75569	0.591000	0.81541	GTG		0.587	KIF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324536.3	NM_138483		21	36	0	0	0	1	0	21	36					T	241683366	C	T	241683366	3	4	435	1	0	0	0	0	1	0	0	0	8283	536	19	1	1866	1	KIF1A	2	241683366	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	51627	241683366	1516007	1617	22542											
KIF1A	547	broad.mit.edu	37	chr2	241713664	241713664	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caaggctgccaccatagctgTccttgagttaccgcctgtgg	7	10	11	13	1	0	1	0	1	0	0	1	1	1	1	5	2	3	3	5	2	3	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:241713664T>C	ENST00000320389.7	-	12	1131	c.973A>G	c.(973-975)Aca>Gca	p.T325A	KIF1A_ENST00000498729.2_Missense_Mutation_p.T325A	NM_004321.6	NP_004312.2	Q12756	KIF1A_HUMAN	kinesin family member 1A	325	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				anterograde axon cargo transport (GO:0008089)|ATP catabolic process (GO:0006200)|cell death (GO:0008219)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|motor activity (GO:0003774)|plus-end-directed microtubule motor activity (GO:0008574)			NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)		ACCATAGCTGTCCTTGAGTTA	0.577																																						ENST00000498729.2																			0				NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66						c.(973-975)Aca>Gca		kinesin family member 1A							66	69	68					2																	241713664		2120	4227	6347	SO:0001583	missense	547				anterograde axon cargo transport	cytoplasm|microtubule|nucleus	ATP binding|microtubule motor activity	g.chr2:241713664T>C	AF004425	CCDS46561.1, CCDS58757.1	2q37.2	2014-09-17	2004-01-09	2004-01-14	ENSG00000130294	ENSG00000130294		"Kinesins", "Pleckstrin homology (PH) domain containing"	888	protein-coding gene	gene with protein product		601255	"axonal transport of synaptic vesicles", "chromosome 2 open reading frame 20", "spastic paraplegia 30 (autosomal recessive)"	ATSV, C2orf20, SPG30		7539720, 10323250, 22258533	Standard	NM_001244008		Approved	UNC104	uc010fzk.3	Q12756	OTTHUMG00000151940	ENST00000320389.7:c.973A>G	2.37:g.241713664T>C	ENSP00000322791:p.Thr325Ala					KIF1A_ENST00000320389.7_Missense_Mutation_p.T325A	p.T325A	NM_001244008.1	NP_001230937.1	Q12756	KIF1A_HUMAN		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)	12	1219	-		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)	325			Kinesin-motor.		B0I1S5|F5H045|O95068|Q13355|Q14752|Q2NKJ6|Q4LE42|Q53T78|Q59GH1|Q63Z40|Q6P1R9|Q7KZ57	Missense_Mutation	SNP	ENST00000320389.7	37	c.973A>G	CCDS46561.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	16.70|16.70	3.194833|3.194833	0.58017|0.58017	.|.	.|.	ENSG00000130294|ENSG00000130294	ENST00000428768|ENST00000320389;ENST00000498729;ENST00000373308;ENST00000404283	.|D;D;D	.|0.91068	.|-2.78;-2.78;-2.78	4.33|4.33	4.33|4.33	0.51752|0.51752	.|Kinesin, motor domain (4);	.|0.000000	.|0.85682	.|U	.|0.000000	D|D	0.96078|0.96078	0.8722|0.8722	M|M	0.92970|0.92970	3.365|3.365	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|1.0;0.998;1.0	.|D;D;D	.|0.97110	.|1.0;0.988;0.999	D|D	0.96825|0.96825	0.9607|0.9607	5|10	.|0.87932	.|D	.|0	.|.	13.1872|13.1872	0.59688|0.59688	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|325;325;325	.|F5H045;Q12756-2;Q12756	.|.;.;KIF1A_HUMAN	G|A	132|325	.|ENSP00000322791:T325A;ENSP00000438388:T325A;ENSP00000384231:T325A	.|ENSP00000322791:T325A	D|T	-|-	2|1	0|0	KIF1A|KIF1A	241362337|241362337	1.000000|1.000000	0.71417|0.71417	0.991000|0.991000	0.47740|0.47740	0.300000|0.300000	0.27592|0.27592	7.716000|7.716000	0.84723|0.84723	1.593000|1.593000	0.50029|0.50029	0.374000|0.374000	0.22700|0.22700	GAC|ACA		0.577	KIF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324536.3	NM_138483		12	11	0	0	0	1	0	12	11					C	241713664	T	C	241713664	3	2	435	1	0	0	0	0	1	0	0	0	8283	1667	58	4	4243	4	KIF1A	2	241713664	Missense_Mutation	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	30298	241713664	1485709	1618	22543											
HDLBP	3069	broad.mit.edu	37	chr2	242169568	242169568	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caaggcccacagagactcacGtattcctcctccagattgag	11	8	8	14	1	1	3	1	1	0	2	4	4	4	3	4	1	0	1	4	1	2	3	rs369738368		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:242169568G>A	ENST00000391975.1	-	26	3818	c.3591C>T	c.(3589-3591)taC>taT	p.Y1197Y	HDLBP_ENST00000391976.2_Splice_Site_p.Y1197Y|HDLBP_ENST00000310931.4_Splice_Site_p.Y1197Y|HDLBP_ENST00000427183.2_Splice_Site_p.Y1164Y	NM_203346.3	NP_976221	Q00341	VIGLN_HUMAN	high density lipoprotein binding protein	1197	KH 14. {ECO:0000255|PROSITE- ProRule:PRU00117}.				cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)	cytoplasm (GO:0005737)|high-density lipoprotein particle (GO:0034364)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)|poly(A) RNA binding (GO:0044822)	p.Y1197*(1)		breast(7)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(11)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		all_cancers(19;7.77e-41)|all_epithelial(40;1.74e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.0121)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;8.13e-34)|all cancers(36;4.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;2.34e-15)|Kidney(56;3.72e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.76e-08)|BRCA - Breast invasive adenocarcinoma(100;3.38e-06)|Lung(119;0.000109)|LUSC - Lung squamous cell carcinoma(224;0.000964)|Colorectal(34;0.0132)|COAD - Colon adenocarcinoma(134;0.0928)		AGAGACTCACGTATTCCTCCT	0.627																																						ENST00000391975.1																			1	Substitution - Nonsense(1)	p.Y1197*(1)	lung(1)	breast(7)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(11)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						c.e26+1		high density lipoprotein binding protein		G	,	0,4406		0,0,2203	72	69	70		3591,3591	-5.3	0.7	2		70	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous-near-splice,coding-synonymous-near-splice	HDLBP	NM_005336.4,NM_203346.3	,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,	1197/1269,1197/1269	242169568	1,13005	2203	4300	6503	SO:0001630	splice_region_variant	3069				cholesterol metabolic process|lipid transport	cytoplasm|high-density lipoprotein particle|nucleus|plasma membrane	lipid binding|protein binding|RNA binding	g.chr2:242169568G>A		CCDS2547.1, CCDS58760.1	2q37.3	2008-07-18	2008-07-18		ENSG00000115677	ENSG00000115677			4857	protein-coding gene	gene with protein product		142695	"vigilin"	VGL		1318310, 8390966	Standard	NM_005336		Approved	HBP	uc002waz.3	Q00341	OTTHUMG00000133391	ENST00000391975.1:c.3591+1C>T	2.37:g.242169568G>A						HDLBP_ENST00000391976.2_Splice_Site_p.Y1197_splice|HDLBP_ENST00000310931.4_Splice_Site_p.Y1197_splice|HDLBP_ENST00000427183.2_Splice_Site_p.Y1164_splice	p.Y1197_splice	NM_203346.3	NP_976221.1	Q00341	VIGLN_HUMAN		Epithelial(32;8.13e-34)|all cancers(36;4.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;2.34e-15)|Kidney(56;3.72e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.76e-08)|BRCA - Breast invasive adenocarcinoma(100;3.38e-06)|Lung(119;0.000109)|LUSC - Lung squamous cell carcinoma(224;0.000964)|Colorectal(34;0.0132)|COAD - Colon adenocarcinoma(134;0.0928)	26	3818	-		all_cancers(19;7.77e-41)|all_epithelial(40;1.74e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.0121)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)	1197			KH 14.		B4DTQ2|E7EM71|Q53QU2|Q9UCY3	Splice_Site	SNP	ENST00000391975.1	37	c.3591_splice	CCDS2547.1	.	.	.	.	.	.	.	.	.	.	G	6.218	0.408339	0.11754	0.0	1.16E-4	ENSG00000115677	ENST00000373292	.	.	.	5.48	-5.27	0.02763	.	.	.	.	.	T	0.67163	0.2864	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.67023	-0.5775	4	.	.	.	-27.3736	17.9233	0.88975	0.8161:0.0:0.1839:0.0	.	.	.	.	S	902	.	.	P	-	1	0	HDLBP	241818241	0.007000	0.16637	0.666000	0.29783	0.734000	0.41952	-0.970000	0.03810	-1.729000	0.01364	0.591000	0.81541	CCT		0.627	HDLBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257245.5	NM_203346	Silent	23	26	0	0	0	1	0	23	26					A	242169568	G	A	242169568	5	1	435	1	0	0	0	0	0	0	1	0	7025	1159	40	1	227	1	HDLBP	2	242169568	Splice_Site	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	455904	242169568	1029805	1619	22544											
HDLBP	3069	broad.mit.edu	37	chr2	242179042	242179042	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cctcaatgatctcctgaatgCgtttcttggctgcctccaca	7	13	7	14	1	3	2	1	2	2	0	5	2	4	2	4	1	2	2	4	1	2	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:242179042C>T	ENST00000391975.1	-	19	2812	c.2585G>A	c.(2584-2586)cGc>cAc	p.R862H	HDLBP_ENST00000391976.2_Missense_Mutation_p.R862H|HDLBP_ENST00000310931.4_Missense_Mutation_p.R862H|HDLBP_ENST00000427183.2_Missense_Mutation_p.R829H	NM_203346.3	NP_976221	Q00341	VIGLN_HUMAN	high density lipoprotein binding protein	862	KH 10. {ECO:0000255|PROSITE- ProRule:PRU00117}.				cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)	cytoplasm (GO:0005737)|high-density lipoprotein particle (GO:0034364)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)|poly(A) RNA binding (GO:0044822)			breast(7)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(11)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		all_cancers(19;7.77e-41)|all_epithelial(40;1.74e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.0121)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;8.13e-34)|all cancers(36;4.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;2.34e-15)|Kidney(56;3.72e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.76e-08)|BRCA - Breast invasive adenocarcinoma(100;3.38e-06)|Lung(119;0.000109)|LUSC - Lung squamous cell carcinoma(224;0.000964)|Colorectal(34;0.0132)|COAD - Colon adenocarcinoma(134;0.0928)		CTCCTGAATGCGTTTCTTGGC	0.602																																						ENST00000391975.1																			0				breast(7)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(11)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						c.(2584-2586)cGc>cAc		high density lipoprotein binding protein							112	107	109					2																	242179042		2203	4300	6503	SO:0001583	missense	3069				cholesterol metabolic process|lipid transport	cytoplasm|high-density lipoprotein particle|nucleus|plasma membrane	lipid binding|protein binding|RNA binding	g.chr2:242179042C>T		CCDS2547.1, CCDS58760.1	2q37.3	2008-07-18	2008-07-18		ENSG00000115677	ENSG00000115677			4857	protein-coding gene	gene with protein product		142695	"vigilin"	VGL		1318310, 8390966	Standard	NM_005336		Approved	HBP	uc002waz.3	Q00341	OTTHUMG00000133391	ENST00000391975.1:c.2585G>A	2.37:g.242179042C>T	ENSP00000375836:p.Arg862His					HDLBP_ENST00000391976.2_Missense_Mutation_p.R862H|HDLBP_ENST00000310931.4_Missense_Mutation_p.R862H|HDLBP_ENST00000427183.2_Missense_Mutation_p.R829H	p.R862H	NM_203346.3	NP_976221.1	Q00341	VIGLN_HUMAN		Epithelial(32;8.13e-34)|all cancers(36;4.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;2.34e-15)|Kidney(56;3.72e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.76e-08)|BRCA - Breast invasive adenocarcinoma(100;3.38e-06)|Lung(119;0.000109)|LUSC - Lung squamous cell carcinoma(224;0.000964)|Colorectal(34;0.0132)|COAD - Colon adenocarcinoma(134;0.0928)	19	2812	-		all_cancers(19;7.77e-41)|all_epithelial(40;1.74e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.0121)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)	862			KH 10.		B4DTQ2|E7EM71|Q53QU2|Q9UCY3	Missense_Mutation	SNP	ENST00000391975.1	37	c.2585G>A	CCDS2547.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.13|17.13	3.310315|3.310315	0.60414|0.60414	.|.	.|.	ENSG00000115677|ENSG00000115677	ENST00000427487|ENST00000391975;ENST00000391976;ENST00000310931;ENST00000427183	.|T;T;T;T	.|0.30714	.|1.52;1.52;1.52;1.52	5.41|5.41	2.55|2.55	0.30701|0.30701	.|K Homology (1);K Homology, type 1, subgroup (1);K Homology, type 1 (1);	.|0.108809	.|0.64402	.|D	.|0.000010	T|T	0.44180|0.44180	0.1281|0.1281	L|L	0.51422|0.51422	1.61|1.61	0.80722|0.80722	D|D	1|1	.|D;D	.|0.71674	.|0.996;0.998	.|D;D	.|0.70487	.|0.969;0.961	T|T	0.24799|0.24799	-1.0150|-1.0150	5|10	.|0.72032	.|D	.|0.01	-12.6536|-12.6536	8.7612|8.7612	0.34676|0.34676	0.0:0.699:0.0:0.301|0.0:0.699:0.0:0.301	.|.	.|829;862	.|E7EM71;Q00341	.|.;VIGLN_HUMAN	T|H	264|862;862;862;829	.|ENSP00000375836:R862H;ENSP00000375837:R862H;ENSP00000312042:R862H;ENSP00000399139:R829H	.|ENSP00000312042:R862H	A|R	-|-	1|2	0|0	HDLBP|HDLBP	241827715|241827715	1.000000|1.000000	0.71417|0.71417	0.075000|0.075000	0.20258|0.20258	0.915000|0.915000	0.54546|0.54546	5.969000|5.969000	0.70422|0.70422	0.316000|0.316000	0.23135|0.23135	0.561000|0.561000	0.74099|0.74099	GCA|CGC		0.602	HDLBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257245.5	NM_203346		38	61	0	0	0	1	0	38	61					T	242179042	C	T	242179042	3	4	435	1	0	0	0	0	1	0	0	0	7025	768	27	1	1261	1	HDLBP	2	242179042	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	9474	242179042	1020331	1620	22545											
HDLBP	3069	broad.mit.edu	37	chr2	242202169	242202169	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtccttccgagctttcatgAcagcatccagctttcctgac	7	13	7	14	1	1	2	1	2	0	0	5	3	5	2	4	0	3	3	4	0	0	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:242202169A>T	ENST00000391975.1	-	5	634	c.407T>A	c.(406-408)gTc>gAc	p.V136D	HDLBP_ENST00000391976.2_Missense_Mutation_p.V136D|HDLBP_ENST00000310931.4_Missense_Mutation_p.V136D|HDLBP_ENST00000427183.2_Missense_Mutation_p.V172D	NM_203346.3	NP_976221	Q00341	VIGLN_HUMAN	high density lipoprotein binding protein	136					cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)	cytoplasm (GO:0005737)|high-density lipoprotein particle (GO:0034364)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)|poly(A) RNA binding (GO:0044822)			breast(7)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(11)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		all_cancers(19;7.77e-41)|all_epithelial(40;1.74e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.0121)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;8.13e-34)|all cancers(36;4.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;2.34e-15)|Kidney(56;3.72e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.76e-08)|BRCA - Breast invasive adenocarcinoma(100;3.38e-06)|Lung(119;0.000109)|LUSC - Lung squamous cell carcinoma(224;0.000964)|Colorectal(34;0.0132)|COAD - Colon adenocarcinoma(134;0.0928)		AGCTTTCATGACAGCATCCAG	0.532																																						ENST00000391975.1																			0				breast(7)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(11)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						c.(406-408)gTc>gAc		high density lipoprotein binding protein							198	172	181					2																	242202169		2203	4300	6503	SO:0001583	missense	3069				cholesterol metabolic process|lipid transport	cytoplasm|high-density lipoprotein particle|nucleus|plasma membrane	lipid binding|protein binding|RNA binding	g.chr2:242202169A>T		CCDS2547.1, CCDS58760.1	2q37.3	2008-07-18	2008-07-18		ENSG00000115677	ENSG00000115677			4857	protein-coding gene	gene with protein product		142695	"vigilin"	VGL		1318310, 8390966	Standard	NM_005336		Approved	HBP	uc002waz.3	Q00341	OTTHUMG00000133391	ENST00000391975.1:c.407T>A	2.37:g.242202169A>T	ENSP00000375836:p.Val136Asp					HDLBP_ENST00000391976.2_Missense_Mutation_p.V136D|HDLBP_ENST00000310931.4_Missense_Mutation_p.V136D|HDLBP_ENST00000427183.2_Missense_Mutation_p.V172D	p.V136D	NM_203346.3	NP_976221.1	Q00341	VIGLN_HUMAN		Epithelial(32;8.13e-34)|all cancers(36;4.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;2.34e-15)|Kidney(56;3.72e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.76e-08)|BRCA - Breast invasive adenocarcinoma(100;3.38e-06)|Lung(119;0.000109)|LUSC - Lung squamous cell carcinoma(224;0.000964)|Colorectal(34;0.0132)|COAD - Colon adenocarcinoma(134;0.0928)	5	634	-		all_cancers(19;7.77e-41)|all_epithelial(40;1.74e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.0121)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)	136					B4DTQ2|E7EM71|Q53QU2|Q9UCY3	Missense_Mutation	SNP	ENST00000391975.1	37	c.407T>A	CCDS2547.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	A|A|A	31|31|31	5.073989|5.073989|5.073989	0.94000|0.94000|0.94000	.|.|.	.|.|.	ENSG00000115677|ENSG00000115677|ENSG00000115677	ENST00000373292|ENST00000453141|ENST00000391975;ENST00000391976;ENST00000310931;ENST00000427183;ENST00000422933;ENST00000428482;ENST00000452065;ENST00000444092;ENST00000430918	.|.|T;T;T;T;T;T;T;T;T	.|.|0.68903	.|.|1.61;1.61;1.61;1.59;0.77;0.15;-0.36;-0.12;-0.12	5.93|5.93|5.93	5.93|5.93|5.93	0.95920|0.95920|0.95920	.|.|.	.|.|0.000000	.|.|0.85682	.|.|D	.|.|0.000000	.|D|D	.|0.83741|0.83741	.|0.5320|0.5320	M|M|M	0.85197|0.85197|0.85197	2.74|2.74|2.74	0.80722|0.80722|0.80722	D|D|D	1|1|1	.|.|D;D	.|.|0.76494	.|.|0.999;0.999	.|.|D;D	.|.|0.76071	.|.|0.987;0.98	.|D|D	.|0.86384|0.86384	.|0.1731|0.1731	.|5|10	.|.|0.87932	.|.|D	.|.|0	-56.1868|-56.1868|-56.1868	16.3943|16.3943|16.3943	0.83563|0.83563|0.83563	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.|.	.|.|172;136	.|.|E7EM71;Q00341	.|.|.;VIGLN_HUMAN	X|T|D	13|37|136;136;136;172;136;136;136;136;136	.|.|ENSP00000375836:V136D;ENSP00000375837:V136D;ENSP00000312042:V136D;ENSP00000399139:V172D;ENSP00000403807:V136D;ENSP00000405109:V136D;ENSP00000387782:V136D;ENSP00000416559:V136D;ENSP00000403913:V136D	.|.|ENSP00000312042:V136D	C|S|V	-|-|-	3|1|2	2|0|0	HDLBP|HDLBP|HDLBP	241850842|241850842|241850842	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	0.998000|0.998000|0.998000	0.56505|0.56505|0.56505	0.993000|0.993000|0.993000	0.82548|0.82548|0.82548	9.262000|9.262000|9.262000	0.95591|0.95591|0.95591	2.281000|2.281000|2.281000	0.76405|0.76405|0.76405	0.533000|0.533000|0.533000	0.62120|0.62120|0.62120	TGT|TCA|GTC		0.532	HDLBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257245.5	NM_203346		9	51	0	0	0	1	0	9	51					T	242202169	A	T	242202169	3	4	435	1	0	0	0	0	1	0	0	0	7025	275	10	5	3495	5	HDLBP	2	242202169	Missense_Mutation	SNP	A	TCGA-XK-AAIW-01A-11D-A41K-08	23127	242202169	997204	1621	22546											
FARP2	9855	broad.mit.edu	37	chr2	242401943	242401943	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctgcttctttcagcgcgtGcctgcagacgaggcctactt	5	12	10	14	3	3	1	1	0	2	1	3	2	3	1	2	1	5	2	2	1	1	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:242401943G>A	ENST00000264042.3	+	15	1763	c.1593G>A	c.(1591-1593)gtG>gtA	p.V531V	FARP2_ENST00000545004.1_Silent_p.V531V|FARP2_ENST00000373287.4_Silent_p.V531V	NM_014808.2	NP_055623.1	O94887	FARP2_HUMAN	FERM, RhoGEF and pleckstrin domain protein 2	531					actin cytoskeleton reorganization (GO:0031532)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|neuron remodeling (GO:0016322)|osteoclast differentiation (GO:0030316)|podosome assembly (GO:0071800)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|Rac protein signal transduction (GO:0016601)|regulation of integrin activation (GO:0033623)|regulation of Rac GTPase activity (GO:0032314)|semaphorin-plexin signaling pathway (GO:0071526)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extrinsic component of membrane (GO:0019898)	Rac guanyl-nucleotide exchange factor activity (GO:0030676)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	43		all_cancers(19;4.88e-34)|all_epithelial(40;4.81e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Lung NSC(271;0.0886)|Ovarian(221;0.0905)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;1.81e-33)|all cancers(36;1.61e-30)|OV - Ovarian serous cystadenocarcinoma(60;6.83e-15)|Kidney(56;1.19e-08)|KIRC - Kidney renal clear cell carcinoma(57;8.98e-08)|BRCA - Breast invasive adenocarcinoma(100;1.49e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00125)|Colorectal(34;0.0199)|COAD - Colon adenocarcinoma(134;0.121)		TTCAGCGCGTGCCTGCAGACG	0.498																																						ENST00000264042.3																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	43						c.(1591-1593)gtG>gtA		FERM, RhoGEF and pleckstrin domain protein 2							92	84	87					2																	242401943		2203	4300	6503	SO:0001819	synonymous_variant	9855				axon guidance|neuron remodeling|Rac protein signal transduction|regulation of Rho protein signal transduction	cytoskeleton|cytosol|extrinsic to membrane	cytoskeletal protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr2:242401943G>A	AB018336	CCDS33424.1, CCDS63197.1	2q37.3	2013-01-10			ENSG00000006607	ENSG00000006607		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	16460	protein-coding gene	gene with protein product						9872452, 12351724	Standard	NM_001282984		Approved	KIAA0793, FIR, PLEKHC3, FRG	uc002wbi.2	O94887	OTTHUMG00000151574	ENST00000264042.3:c.1593G>A	2.37:g.242401943G>A						FARP2_ENST00000545004.1_Silent_p.V531V|FARP2_ENST00000373287.4_Silent_p.V531V	p.V531V	NM_014808.2	NP_055623.1	O94887	FARP2_HUMAN		Epithelial(32;1.81e-33)|all cancers(36;1.61e-30)|OV - Ovarian serous cystadenocarcinoma(60;6.83e-15)|Kidney(56;1.19e-08)|KIRC - Kidney renal clear cell carcinoma(57;8.98e-08)|BRCA - Breast invasive adenocarcinoma(100;1.49e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00125)|Colorectal(34;0.0199)|COAD - Colon adenocarcinoma(134;0.121)	15	1763	+		all_cancers(19;4.88e-34)|all_epithelial(40;4.81e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Lung NSC(271;0.0886)|Ovarian(221;0.0905)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.238)	531					B7Z6J8|F5GZ84|Q53QM5|Q8WU27|Q9UFE7	Silent	SNP	ENST00000264042.3	37	c.1593G>A	CCDS33424.1																																																																																				0.498	FARP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323153.1			18	31	0	0	0	1	0	18	31					A	242401943	G	A	242401943	2	1	435	1	0	0	0	0	0	0	0	1	5677	1306	46	3		3	FARP2	2	242401943	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	199774	242401943	797430	1622	22547											
FARP2	9855	broad.mit.edu	37	chr2	242403384	242403384	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acatcctgctcaggaacatgCgccagttaaaggtaggctgc	11	8	11	11	1	1	0	1	0	0	0	2	1	2	1	2	3	4	4	2	3	4	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:242403384C>T	ENST00000264042.3	+	17	2052	c.1882C>T	c.(1882-1884)Cgc>Tgc	p.R628C	FARP2_ENST00000545004.1_Missense_Mutation_p.R628C|FARP2_ENST00000373287.4_Missense_Mutation_p.R628C	NM_014808.2	NP_055623.1	O94887	FARP2_HUMAN	FERM, RhoGEF and pleckstrin domain protein 2	628	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				actin cytoskeleton reorganization (GO:0031532)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|neuron remodeling (GO:0016322)|osteoclast differentiation (GO:0030316)|podosome assembly (GO:0071800)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|Rac protein signal transduction (GO:0016601)|regulation of integrin activation (GO:0033623)|regulation of Rac GTPase activity (GO:0032314)|semaphorin-plexin signaling pathway (GO:0071526)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extrinsic component of membrane (GO:0019898)	Rac guanyl-nucleotide exchange factor activity (GO:0030676)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	43		all_cancers(19;4.88e-34)|all_epithelial(40;4.81e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Lung NSC(271;0.0886)|Ovarian(221;0.0905)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;1.81e-33)|all cancers(36;1.61e-30)|OV - Ovarian serous cystadenocarcinoma(60;6.83e-15)|Kidney(56;1.19e-08)|KIRC - Kidney renal clear cell carcinoma(57;8.98e-08)|BRCA - Breast invasive adenocarcinoma(100;1.49e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00125)|Colorectal(34;0.0199)|COAD - Colon adenocarcinoma(134;0.121)		CAGGAACATGCGCCAGTTAAA	0.502																																						ENST00000264042.3																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	43						c.(1882-1884)Cgc>Tgc		FERM, RhoGEF and pleckstrin domain protein 2							117	88	98					2																	242403384		2203	4300	6503	SO:0001583	missense	9855				axon guidance|neuron remodeling|Rac protein signal transduction|regulation of Rho protein signal transduction	cytoskeleton|cytosol|extrinsic to membrane	cytoskeletal protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr2:242403384C>T	AB018336	CCDS33424.1, CCDS63197.1	2q37.3	2013-01-10			ENSG00000006607	ENSG00000006607		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	16460	protein-coding gene	gene with protein product						9872452, 12351724	Standard	NM_001282984		Approved	KIAA0793, FIR, PLEKHC3, FRG	uc002wbi.2	O94887	OTTHUMG00000151574	ENST00000264042.3:c.1882C>T	2.37:g.242403384C>T	ENSP00000264042:p.Arg628Cys					FARP2_ENST00000545004.1_Missense_Mutation_p.R628C|FARP2_ENST00000373287.4_Missense_Mutation_p.R628C	p.R628C	NM_014808.2	NP_055623.1	O94887	FARP2_HUMAN		Epithelial(32;1.81e-33)|all cancers(36;1.61e-30)|OV - Ovarian serous cystadenocarcinoma(60;6.83e-15)|Kidney(56;1.19e-08)|KIRC - Kidney renal clear cell carcinoma(57;8.98e-08)|BRCA - Breast invasive adenocarcinoma(100;1.49e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00125)|Colorectal(34;0.0199)|COAD - Colon adenocarcinoma(134;0.121)	17	2052	+		all_cancers(19;4.88e-34)|all_epithelial(40;4.81e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Lung NSC(271;0.0886)|Ovarian(221;0.0905)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.238)	628			DH.		B7Z6J8|F5GZ84|Q53QM5|Q8WU27|Q9UFE7	Missense_Mutation	SNP	ENST00000264042.3	37	c.1882C>T	CCDS33424.1	.	.	.	.	.	.	.	.	.	.	C	7.947	0.743933	0.15642	.	.	ENSG00000006607	ENST00000264042;ENST00000545004;ENST00000373287	T;T;T	0.64260	-0.09;-0.06;-0.06	5.1	4.22	0.49857	Dbl homology (DH) domain (5);	0.757438	0.12907	N	0.429254	T	0.59266	0.2181	N	0.17474	0.49	0.35261	D	0.779587	B;D;B	0.65815	0.017;0.995;0.022	B;P;B	0.53861	0.005;0.736;0.008	T	0.66858	-0.5817	10	0.46703	T	0.11	.	14.1511	0.65384	0.0:0.9268:0.0:0.0732	.	628;628;628	O94887-2;F5GZ84;O94887	.;.;FARP2_HUMAN	C	628	ENSP00000264042:R628C;ENSP00000443876:R628C;ENSP00000362384:R628C	ENSP00000264042:R628C	R	+	1	0	FARP2	242052057	0.435000	0.25577	0.859000	0.33776	0.139000	0.21198	0.924000	0.28777	1.299000	0.44798	-0.126000	0.14955	CGC		0.502	FARP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323153.1			5	11	0	0	0	1	0	5	11					T	242403384	C	T	242403384	3	4	435	1	0	0	0	0	1	0	0	0	5677	768	27	1	1944	1	FARP2	2	242403384	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	1441	242403384	795989	1623	22548											
STK25	10494	broad.mit.edu	37	chr2	242441080	242441080	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caaacgagcccttgccaatgCggtcgagcttggtgaagagc	10	7	13	11	3	0	2	0	1	0	1	1	4	0	2	2	2	6	1	2	2	3	2	rs200593123		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:242441080C>T	ENST00000316586.4	-	3	423	c.74G>A	c.(73-75)cGc>cAc	p.R25H	STK25_ENST00000405585.1_Intron|STK25_ENST00000403346.3_Missense_Mutation_p.R25H|STK25_ENST00000535007.1_5'UTR|STK25_ENST00000543554.1_5'UTR|STK25_ENST00000405883.3_Intron|STK25_ENST00000478403.1_5'Flank|STK25_ENST00000401869.1_Missense_Mutation_p.R25H	NM_001271977.1|NM_001271978.1|NM_001282308.1	NP_001258906.1|NP_001258907.1|NP_001269237.1	O00506	STK25_HUMAN	serine/threonine kinase 25	25	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				establishment or maintenance of cell polarity (GO:0007163)|Golgi localization (GO:0051645)|positive regulation of axonogenesis (GO:0050772)|response to oxidative stress (GO:0006979)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|kidney(1)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	10		all_cancers(19;2.09e-34)|all_epithelial(40;2.09e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Ovarian(221;0.069)|Lung NSC(271;0.0886)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.2)		Epithelial(32;8.24e-34)|all cancers(36;3.46e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.6e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.1e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0839)		CTTGCCAATGCGGTCGAGCTT	0.622																																					NSCLC(99;1100 1566 7679 28647 48345)	ENST00000316586.4																			0				breast(1)|kidney(1)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	10						c.(73-75)cGc>cAc		serine/threonine kinase 25							152	120	131					2																	242441080		2203	4300	6503	SO:0001583	missense	10494				response to oxidative stress|signal transduction	Golgi apparatus	ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity	g.chr2:242441080C>T	D63780	CCDS2549.1, CCDS63199.1, CCDS63200.1	2q37.3	2010-06-25	2010-06-25		ENSG00000115694	ENSG00000115694			11404	protein-coding gene	gene with protein product		602255	"serine/threonine kinase 25 (Ste20, yeast homolog)"			8887545, 9160885, 15037601	Standard	NM_001271977		Approved	SOK1, YSK1	uc002wbp.4	O00506	OTTHUMG00000133408	ENST00000316586.4:c.74G>A	2.37:g.242441080C>T	ENSP00000325748:p.Arg25His					STK25_ENST00000401869.1_Missense_Mutation_p.R25H|STK25_ENST00000535007.1_5'UTR|STK25_ENST00000405883.3_Intron|STK25_ENST00000403346.3_Missense_Mutation_p.R25H|STK25_ENST00000405585.1_Intron|STK25_ENST00000543554.1_5'UTR	p.R25H	NM_001271977.1|NM_001271978.1	NP_001258906.1|NP_001258907.1	O00506	STK25_HUMAN		Epithelial(32;8.24e-34)|all cancers(36;3.46e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.6e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.1e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0839)	3	423	-		all_cancers(19;2.09e-34)|all_epithelial(40;2.09e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Ovarian(221;0.069)|Lung NSC(271;0.0886)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.2)	25			Protein kinase.		A8K6Z3|A8K7D2|B7Z9K1|Q15522|Q5BJF1	Missense_Mutation	SNP	ENST00000316586.4	37	c.74G>A	CCDS2549.1	.	.	.	.	.	.	.	.	.	.	C	11.21	1.570453	0.28003	.	.	ENSG00000115694	ENST00000316586;ENST00000403346;ENST00000401869;ENST00000436402;ENST00000426941;ENST00000420551	T;T;T;T;T;T	0.39997	1.81;1.81;1.81;1.05;1.05;1.05	3.78	1.95	0.26073	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.067963	0.64402	D	0.000014	T	0.31513	0.0799	L	0.45698	1.435	0.80722	D	1	P;P	0.37573	0.6;0.563	B;B	0.32149	0.141;0.048	T	0.10800	-1.0614	10	0.62326	D	0.03	.	9.9645	0.41717	0.0:0.8268:0.0:0.1732	.	25;25	B4DZ52;O00506	.;STK25_HUMAN	H	25;25;25;25;25;40	ENSP00000325748:R25H;ENSP00000384162:R25H;ENSP00000385687:R25H;ENSP00000412617:R25H;ENSP00000414191:R25H;ENSP00000404552:R40H	ENSP00000325748:R25H	R	-	2	0	STK25	242089753	1.000000	0.71417	0.573000	0.28510	0.003000	0.03518	7.541000	0.82084	0.341000	0.23771	-0.253000	0.11424	CGC		0.622	STK25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257265.4	NM_006374		21	37	0	0	0	1	0	21	37					T	242441080	C	T	242441080	3	4	435	1	0	0	0	0	1	0	0	0	15293	768	27	1	1246	1	STK25	2	242441080	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	37696	242441080	758293	1624	22549											
DTYMK	1841	broad.mit.edu	37	chr2	242625237	242625237	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcaccgagtgatcctccacGtcacttttcttttgcaagta	8	14	7	12	2	2	1	1	1	1	0	4	2	4	1	3	0	2	3	3	0	2	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:242625237G>A	ENST00000305784.2	-	2	393	c.186C>T	c.(184-186)gaC>gaT	p.D62D	DTYMK_ENST00000493095.1_5'UTR	NM_001165031.1|NM_012145.3	NP_001158503.1|NP_036277.2	P23919	KTHY_HUMAN	deoxythymidylate kinase (thymidylate kinase)	62					cell cycle (GO:0007049)|cell proliferation (GO:0008283)|cellular response to growth factor stimulus (GO:0071363)|dTDP biosynthetic process (GO:0006233)|dTTP biosynthetic process (GO:0006235)|myoblast differentiation (GO:0045445)|nucleobase-containing small molecule interconversion (GO:0015949)|nucleobase-containing small molecule metabolic process (GO:0055086)|nucleoside monophosphate phosphorylation (GO:0046940)|nucleotide phosphorylation (GO:0046939)|response to cadmium ion (GO:0046686)|response to estrogen (GO:0043627)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|mitochondrial intermembrane space (GO:0005758)|mitochondrial matrix (GO:0005759)	ATP binding (GO:0005524)|nucleoside phosphate kinase activity (GO:0050145)|thymidylate kinase activity (GO:0004798)			NS(1)|large_intestine(1)|lung(4)|urinary_tract(1)	7		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;1.6e-33)|all cancers(36;3.57e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.23e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0825)		GATCCTCCACGTCACTTTTCT	0.438																																						ENST00000305784.2																			0				NS(1)|large_intestine(1)|lung(4)|urinary_tract(1)	7						c.(184-186)gaC>gaT		deoxythymidylate kinase (thymidylate kinase)							177	167	171					2																	242625237		2203	4296	6499	SO:0001819	synonymous_variant	1841				cell cycle|cell proliferation|nucleobase, nucleoside and nucleotide interconversion	cytosol	ATP binding|nucleoside phosphate kinase activity|thymidylate kinase activity	g.chr2:242625237G>A	X54729	CCDS2552.1	2q37	2008-02-05			ENSG00000168393	ENSG00000168393	2.7.4.9		3061	protein-coding gene	gene with protein product	"dTMP kinase", "thymidylate (dTMP) kinase"	188345				2017365, 8024690	Standard	NM_001165031		Approved	CDC8, TYMK, TMPK	uc002wbz.2	P23919	OTTHUMG00000133409	ENST00000305784.2:c.186C>T	2.37:g.242625237G>A						DTYMK_ENST00000493095.1_5'UTR	p.D62D	NM_001165031.1|NM_012145.3	NP_001158503.1|NP_036277.2	P23919	KTHY_HUMAN		Epithelial(32;1.6e-33)|all cancers(36;3.57e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.23e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0825)	2	393	-		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)	62					B7ZW70|Q6FGX1|Q9BUX4	Silent	SNP	ENST00000305784.2	37	c.186C>T	CCDS2552.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	0.074|0.074	-1.196311|-1.196311	0.01594|0.01594	.|.	.|.	ENSG00000168393|ENSG00000168393	ENST00000445261|ENST00000420144	.|.	.|.	.|.	5.34|5.34	-10.7|-10.7	0.00240|0.00240	.|.	.|.	.|.	.|.	.|.	T|T	0.41789|0.41789	0.1174|0.1174	.|.	.|.	.|.	0.47407|0.47407	D|D	0.999419|0.999419	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.53294|0.53294	-0.8459|-0.8459	4|4	.|.	.|.	.|.	-13.2689|-13.2689	5.4643|5.4643	0.16634|0.16634	0.1136:0.3825:0.3494:0.1546|0.1136:0.3825:0.3494:0.1546	.|.	.|.	.|.	.|.	C|M	39|19	.|.	.|.	R|T	-|-	1|2	0|0	DTYMK|DTYMK	242273910|242273910	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.016000|0.016000	0.09150|0.09150	-0.979000|-0.979000	0.03774|0.03774	-3.315000|-3.315000	0.00189|0.00189	-2.057000|-2.057000	0.00402|0.00402	CGT|ACG		0.438	DTYMK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257266.2	NM_012145		80	138	0	0	0	1	0	80	138					A	242625237	G	A	242625237	2	1	435	1	0	0	0	0	0	0	0	1	4798	1136	40	1		1	DTYMK	2	242625237	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	184157	242625237	574136	1625	22550											
C2orf85	285093	broad.mit.edu	37	chr2	242814203	242814203	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accccgcctggagcgccaacGccacaaaaggcaacttcccc	11	3	8	19	3	0	0	0	0	0	0	1	1	1	1	7	2	3	1	7	2	4	1	rs370247629		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:242814203G>A	ENST00000343216.3	+	2	524	c.496G>A	c.(496-498)Gcc>Acc	p.A166T		NM_173821.2	NP_776182.2																					GAGCGCCAACGCCACAAAAGG	0.692																																						ENST00000343216.3																			0											c.(496-498)Gcc>Acc		CXXC finger protein 11			THR/ALA	1,3965		0,1,1982	9	11	11		496	-5.3	0	2		11	0,8234		0,0,4117	no	missense	C2orf85	NM_173821.2	58	0,1,6099	AA,AG,GG		0.0,0.0252,0.0082	benign	166/573	242814203	1,12199	1983	4117	6100	SO:0001583	missense	285093					integral to membrane		g.chr2:242814203G>A																												ENST00000343216.3:c.496G>A	2.37:g.242814203G>A	ENSP00000345374:p.Ala166Thr						p.A166T	NM_173821.2	NP_776182.2	Q14D33	CB085_HUMAN			2	524	+			166						Missense_Mutation	SNP	ENST00000343216.3	37	c.496G>A	CCDS42843.1	.	.	.	.	.	.	.	.	.	.	.	0.007	-1.978456	0.00448	2.52E-4	0.0	ENSG00000188011	ENST00000343216	T	0.25579	1.79	2.66	-5.32	0.02722	.	.	.	.	.	T	0.06735	0.0172	N	0.03608	-0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.24404	-1.0161	9	0.09338	T	0.73	-5.0898	1.0248	0.01526	0.1608:0.1799:0.3114:0.3479	.	166	Q14D33	CB085_HUMAN	T	166	ENSP00000345374:A166T	ENSP00000345374:A166T	A	+	1	0	C2orf85	242462876	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.921000	0.04008	-2.540000	0.00486	-1.620000	0.00792	GCC		0.692	CXXC11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322310.1			3	8	0	0	0	1	0	3	8					A	242814203	G	A	242814203	3	1	435	1	0	0	0	0	1	0	0	0	2200	1087	38	1	502	1	C2orf85	2	242814203	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	188966	242814203	385170	1626	22551											
CHL1	10752	broad.mit.edu	37	chr3	403458	403458	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tacagtgctttcttacattgCgagttctttgcttcacctga	7	17	7	10	1	3	1	1	1	2	0	3	2	3	1	1	0	5	3	1	0	2	7			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:403458C>T	ENST00000256509.2	+	13	2025	c.1383C>T	c.(1381-1383)tgC>tgT	p.C461C	CHL1_ENST00000397491.2_Silent_p.C445C|CHL1-AS1_ENST00000417612.1_RNA|CHL1-AS1_ENST00000608098.1_RNA	NM_001253387.1|NM_001253388.1|NM_006614.3	NP_001240316.1|NP_001240317.1|NP_006605.2	Q96FC9	DDX11_HUMAN	cell adhesion molecule L1-like	0					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|ATP catabolic process (GO:0006200)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|sister chromatid cohesion (GO:0007062)|viral process (GO:0016032)	midbody (GO:0030496)|nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle pole (GO:0000922)	4 iron, 4 sulfur cluster binding (GO:0051539)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA-dependent ATPase activity (GO:0008094)|double-stranded DNA binding (GO:0003690)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)	p.C461C(1)		NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1)	93		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)		TCTTACATTGCGAGTTCTTTG	0.408																																						ENST00000256509.2																			1	Substitution - coding silent(1)	p.C461C(1)	endometrium(1)	NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1)	93						c.(1381-1383)tgC>tgT		cell adhesion molecule L1-like							229	212	218					3																	403458		2203	4300	6503	SO:0001819	synonymous_variant	10752				axon guidance|cell adhesion|signal transduction	integral to membrane|plasma membrane|proteinaceous extracellular matrix		g.chr3:403458C>T	AF002246	CCDS2556.1, CCDS58812.1, CCDS74887.1	3p26	2013-05-01	2013-05-01		ENSG00000134121	ENSG00000134121		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	1939	protein-coding gene	gene with protein product	"neural cell adhesion molecule", "close homolog of L1"	607416	"cell adhesion molecule with homology to L1CAM (close homologue of L1)", "cell adhesion molecule with homology to L1CAM (close homolog of L1)"			9799093	Standard	NM_006614		Approved	CALL, L1CAM2, FLJ44930, MGC132578	uc003bot.3	O00533	OTTHUMG00000090601	ENST00000256509.2:c.1383C>T	3.37:g.403458C>T						CHL1_ENST00000397491.2_Silent_p.C445C	p.C461C	NM_001253387.1|NM_001253388.1|NM_006614.3	NP_001240316.1|NP_001240317.1|NP_006605.2	O00533	CHL1_HUMAN		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)	13	2025	+		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)	445			Ig-like C2-type 5.		Q13333|Q86VQ4|Q86W62|Q92498|Q92770|Q92998|Q92999	Silent	SNP	ENST00000256509.2	37	c.1383C>T	CCDS2556.1																																																																																				0.408	CHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207155.2	NM_006614		23	48	0	0	0	1	0	23	48					T	403458	C	T	403458	2	4	435	1	0	0	0	0	0	0	0	1	3349	776	27	1		1	CHL1	3	403458	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08		403458	197618972	1627	22552											
CNTN4	152330	broad.mit.edu	37	chr3	2944670	2944670	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	catggagttatcttttccaaCgcagagcttagtgttatagg	10	14	10	7	1	1	1	0	0	1	1	2	2	2	2	1	2	2	4	1	2	5	6			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:2944670C>T	ENST00000397461.1	+	11	1572	c.1188C>T	c.(1186-1188)aaC>aaT	p.N396N	CNTN4_ENST00000448906.2_Silent_p.N68N|CNTN4_ENST00000358480.3_Silent_p.N177N|CNTN4_ENST00000397459.2_Silent_p.N68N|CNTN4_ENST00000427331.1_Silent_p.N396N|CNTN4_ENST00000418658.1_Silent_p.N396N|CNTN4_ENST00000475817.1_3'UTR	NM_001206955.1	NP_001193884.1	Q8IWV2	CNTN4_HUMAN	contactin 4	396	Ig-like C2-type 4.				axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|axonogenesis (GO:0007409)|brain development (GO:0007420)|negative regulation of neuron differentiation (GO:0045665)|nervous system development (GO:0007399)|neuron cell-cell adhesion (GO:0007158)|neuron projection development (GO:0031175)|regulation of synaptic plasticity (GO:0048167)	anchored component of membrane (GO:0031225)|axon (GO:0030424)|extracellular region (GO:0005576)|plasma membrane (GO:0005886)				NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		TCTTTTCCAACGCAGAGCTTA	0.353																																						ENST00000397461.1																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						c.(1186-1188)aaC>aaT		contactin 4							86	83	84					3																	2944670		2203	4300	6503	SO:0001819	synonymous_variant	152330				axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity	anchored to membrane|axon|extracellular region|plasma membrane	protein binding	g.chr3:2944670C>T	AW665944	CCDS2558.1, CCDS43041.1	3p26.3	2013-02-11			ENSG00000144619	ENSG00000144619		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	2174	protein-coding gene	gene with protein product		607280				8586965, 12202991	Standard	NM_175607		Approved	BIG-2	uc003bpc.3	Q8IWV2	OTTHUMG00000119031	ENST00000397461.1:c.1188C>T	3.37:g.2944670C>T						CNTN4_ENST00000397459.2_Silent_p.N68N|CNTN4_ENST00000358480.3_Silent_p.N177N|CNTN4_ENST00000475817.1_3'UTR|CNTN4_ENST00000448906.2_Silent_p.N68N|CNTN4_ENST00000418658.1_Silent_p.N396N|CNTN4_ENST00000427331.1_Silent_p.N396N	p.N396N	NM_001206955.1	NP_001193884.1	Q8IWV2	CNTN4_HUMAN		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)	11	1572	+		Ovarian(110;0.156)	396			Ig-like C2-type 4.		B2RAX3|Q8IX14|Q8TC35	Silent	SNP	ENST00000397461.1	37	c.1188C>T	CCDS43041.1																																																																																				0.353	CNTN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239236.2			8	22	0	0	0	1	0	8	22					T	2944670	C	T	2944670	2	4	435	1	0	0	0	0	0	0	0	1	3643	535	19	1		1	CNTN4	3	2944670	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	2541212	2944670	195077760	1628	22553											
CNTN4	152330	broad.mit.edu	37	chr3	3030068	3030068	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggaaacctcagaatcatcaaCgttactaaatcagacgctgg	15	8	8	10	2	4	2	4	0	0	2	4	3	4	3	1	2	3	2	1	2	6	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:3030068C>T	ENST00000397461.1	+	13	1782	c.1398C>T	c.(1396-1398)aaC>aaT	p.N466N	CNTN4_ENST00000448906.2_Silent_p.N138N|CNTN4_ENST00000358480.3_Silent_p.N247N|CNTN4_ENST00000397459.2_Silent_p.N138N|CNTN4_ENST00000427331.1_Silent_p.N466N|CNTN4_ENST00000418658.1_Silent_p.N466N|CNTN4_ENST00000475817.1_3'UTR	NM_001206955.1	NP_001193884.1	Q8IWV2	CNTN4_HUMAN	contactin 4	466	Ig-like C2-type 5.				axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|axonogenesis (GO:0007409)|brain development (GO:0007420)|negative regulation of neuron differentiation (GO:0045665)|nervous system development (GO:0007399)|neuron cell-cell adhesion (GO:0007158)|neuron projection development (GO:0031175)|regulation of synaptic plasticity (GO:0048167)	anchored component of membrane (GO:0031225)|axon (GO:0030424)|extracellular region (GO:0005576)|plasma membrane (GO:0005886)				NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		GAATCATCAACGTTACTAAAT	0.363																																						ENST00000397461.1																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						c.(1396-1398)aaC>aaT		contactin 4							92	92	92					3																	3030068		2203	4300	6503	SO:0001819	synonymous_variant	152330				axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity	anchored to membrane|axon|extracellular region|plasma membrane	protein binding	g.chr3:3030068C>T	AW665944	CCDS2558.1, CCDS43041.1	3p26.3	2013-02-11			ENSG00000144619	ENSG00000144619		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	2174	protein-coding gene	gene with protein product		607280				8586965, 12202991	Standard	NM_175607		Approved	BIG-2	uc003bpc.3	Q8IWV2	OTTHUMG00000119031	ENST00000397461.1:c.1398C>T	3.37:g.3030068C>T						CNTN4_ENST00000397459.2_Silent_p.N138N|CNTN4_ENST00000358480.3_Silent_p.N247N|CNTN4_ENST00000475817.1_3'UTR|CNTN4_ENST00000448906.2_Silent_p.N138N|CNTN4_ENST00000418658.1_Silent_p.N466N|CNTN4_ENST00000427331.1_Silent_p.N466N	p.N466N	NM_001206955.1	NP_001193884.1	Q8IWV2	CNTN4_HUMAN		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)	13	1782	+		Ovarian(110;0.156)	466			Ig-like C2-type 5.		B2RAX3|Q8IX14|Q8TC35	Silent	SNP	ENST00000397461.1	37	c.1398C>T	CCDS43041.1																																																																																				0.363	CNTN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239236.2			8	105	0	0	0	1	0	8	105					T	3030068	C	T	3030068	2	4	435	1	0	0	0	0	0	0	0	1	3643	535	19	1		1	CNTN4	3	3030068	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	85398	3030068	194992362	1629	22554											
CNTN4	152330	broad.mit.edu	37	chr3	3084089	3084089	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cactggagaagaatagaggaCgaatacaaggttatgaggta	17	7	13	4	1	0	4	0	1	0	3	0	7	0	5	0	4	1	2	0	4	8	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:3084089C>T	ENST00000397461.1	+	20	2878	c.2494C>T	c.(2494-2496)Cga>Tga	p.R832*	CNTN4_ENST00000448906.2_Nonsense_Mutation_p.R504*|CNTN4_ENST00000358480.3_Nonsense_Mutation_p.R613*|CNTN4-AS1_ENST00000442749.2_RNA|CNTN4_ENST00000397459.2_Nonsense_Mutation_p.R504*|CNTN4_ENST00000427331.1_Nonsense_Mutation_p.R832*|CNTN4_ENST00000418658.1_Nonsense_Mutation_p.R832*	NM_001206955.1	NP_001193884.1	Q8IWV2	CNTN4_HUMAN	contactin 4	832	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|axonogenesis (GO:0007409)|brain development (GO:0007420)|negative regulation of neuron differentiation (GO:0045665)|nervous system development (GO:0007399)|neuron cell-cell adhesion (GO:0007158)|neuron projection development (GO:0031175)|regulation of synaptic plasticity (GO:0048167)	anchored component of membrane (GO:0031225)|axon (GO:0030424)|extracellular region (GO:0005576)|plasma membrane (GO:0005886)				NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		GAATAGAGGACGAATACAAGG	0.458																																						ENST00000397461.1																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						c.(2494-2496)Cga>Tga		contactin 4							92	89	90					3																	3084089		2203	4300	6503	SO:0001587	stop_gained	152330				axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity	anchored to membrane|axon|extracellular region|plasma membrane	protein binding	g.chr3:3084089C>T	AW665944	CCDS2558.1, CCDS43041.1	3p26.3	2013-02-11			ENSG00000144619	ENSG00000144619		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	2174	protein-coding gene	gene with protein product		607280				8586965, 12202991	Standard	NM_175607		Approved	BIG-2	uc003bpc.3	Q8IWV2	OTTHUMG00000119031	ENST00000397461.1:c.2494C>T	3.37:g.3084089C>T	ENSP00000380602:p.Arg832*					CNTN4-AS1_ENST00000442749.2_RNA|CNTN4_ENST00000397459.2_Nonsense_Mutation_p.R504*|CNTN4_ENST00000358480.3_Nonsense_Mutation_p.R613*|CNTN4_ENST00000448906.2_Nonsense_Mutation_p.R504*|CNTN4_ENST00000418658.1_Nonsense_Mutation_p.R832*|CNTN4_ENST00000427331.1_Nonsense_Mutation_p.R832*	p.R832*	NM_001206955.1	NP_001193884.1	Q8IWV2	CNTN4_HUMAN		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)	20	2878	+		Ovarian(110;0.156)	832			Fibronectin type-III 3.		B2RAX3|Q8IX14|Q8TC35	Nonsense_Mutation	SNP	ENST00000397461.1	37	c.2494C>T	CCDS43041.1	.	.	.	.	.	.	.	.	.	.	C	38	7.091906	0.98059	.	.	ENSG00000144619	ENST00000418658;ENST00000397461;ENST00000427331;ENST00000358480;ENST00000397459;ENST00000448906	.	.	.	5.61	3.71	0.42584	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.0641	0.42292	0.2647:0.6323:0.103:0.0	.	.	.	.	X	832;832;832;613;504;504	.	ENSP00000351267:R613X	R	+	1	2	CNTN4	3059089	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	1.180000	0.32005	1.484000	0.48361	0.655000	0.94253	CGA		0.458	CNTN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239236.2			19	27	0	0	0	1	0	19	27					T	3084089	C	T	3084089	4	4	435	1	0	0	0	0	0	1	0	0	3643	528	19	1	2564	1	CNTN4	3	3084089	Nonsense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	54021	3084089	194938341	1630	22555											
CNTN4	152330	broad.mit.edu	37	chr3	3085292	3085292	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atagcaccaagtcaacccccCggaaacatcatatggaattc	15	7	6	13	1	2	0	2	0	0	0	3	2	2	2	4	2	3	1	4	2	6	3	rs144260163		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:3085292C>T	ENST00000397461.1	+	22	3099	c.2715C>T	c.(2713-2715)ccC>ccT	p.P905P	CNTN4_ENST00000448906.2_Silent_p.P577P|CNTN4_ENST00000358480.3_Silent_p.P686P|CNTN4-AS1_ENST00000442749.2_RNA|CNTN4_ENST00000397459.2_Silent_p.P577P|CNTN4_ENST00000427331.1_Silent_p.P905P|CNTN4_ENST00000418658.1_Silent_p.P905P	NM_001206955.1	NP_001193884.1	Q8IWV2	CNTN4_HUMAN	contactin 4	905	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|axonogenesis (GO:0007409)|brain development (GO:0007420)|negative regulation of neuron differentiation (GO:0045665)|nervous system development (GO:0007399)|neuron cell-cell adhesion (GO:0007158)|neuron projection development (GO:0031175)|regulation of synaptic plasticity (GO:0048167)	anchored component of membrane (GO:0031225)|axon (GO:0030424)|extracellular region (GO:0005576)|plasma membrane (GO:0005886)				NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		GTCAACCCCCCGGAAACATCA	0.373													C|||	1	0.000199681	8e-04	0	5008	,	,		18275	0		0	False		,,,				2504	0					ENST00000397461.1																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						c.(2713-2715)ccC>ccT		contactin 4		C	,,,	2,4404	4.2+/-10.8	0,2,2201	59	61	60		2715,1728,2715,1731	-6.2	0.9	3	dbSNP_134	60	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	CNTN4	NM_001206955.1,NM_001206956.1,NM_175607.2,NM_175613.2	,,,	0,4,6499	TT,TC,CC		0.0233,0.0454,0.0308	,,,	905/1027,576/698,905/1027,577/699	3085292	4,13002	2203	4300	6503	SO:0001819	synonymous_variant	152330				axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity	anchored to membrane|axon|extracellular region|plasma membrane	protein binding	g.chr3:3085292C>T	AW665944	CCDS2558.1, CCDS43041.1	3p26.3	2013-02-11			ENSG00000144619	ENSG00000144619		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	2174	protein-coding gene	gene with protein product		607280				8586965, 12202991	Standard	NM_175607		Approved	BIG-2	uc003bpc.3	Q8IWV2	OTTHUMG00000119031	ENST00000397461.1:c.2715C>T	3.37:g.3085292C>T						CNTN4-AS1_ENST00000442749.2_RNA|CNTN4_ENST00000397459.2_Silent_p.P577P|CNTN4_ENST00000358480.3_Silent_p.P686P|CNTN4_ENST00000448906.2_Silent_p.P577P|CNTN4_ENST00000418658.1_Silent_p.P905P|CNTN4_ENST00000427331.1_Silent_p.P905P	p.P905P	NM_001206955.1	NP_001193884.1	Q8IWV2	CNTN4_HUMAN		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)	22	3099	+		Ovarian(110;0.156)	905			Fibronectin type-III 4.		B2RAX3|Q8IX14|Q8TC35	Silent	SNP	ENST00000397461.1	37	c.2715C>T	CCDS43041.1																																																																																				0.373	CNTN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239236.2			33	44	0	0	0	1	0	33	44					T	3085292	C	T	3085292	2	4	435	1	0	0	0	0	0	0	0	1	3643	639	23	2		2	CNTN4	3	3085292	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	1203	3085292	194937138	1631	22556											
TRNT1	51095	broad.mit.edu	37	chr3	3178985	3178985	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acgaattaagaatagcaggaGgagcagtgagggatttatta	16	9	13	3	1	0	2	0	1	0	1	0	6	0	5	0	3	2	2	0	3	6	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:3178985G>T	ENST00000251607.6	+	3	292	c.190G>T	c.(190-192)Gga>Tga	p.G64*	TRNT1_ENST00000280591.6_Nonsense_Mutation_p.G64*	NM_182916.2	NP_886552	Q96Q11	TRNT1_HUMAN	tRNA nucleotidyl transferase, CCA-adding, 1	64					protein targeting to mitochondrion (GO:0006626)|tRNA 3'-end processing (GO:0042780)|tRNA 3'-terminal CCA addition (GO:0001680)	intracellular (GO:0005622)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATP:3'-cytidine-cytidine-tRNA adenylyltransferase activity (GO:0052929)|CTP:3'-cytidine-tRNA cytidylyltransferase activity (GO:0052928)|CTP:tRNA cytidylyltransferase activity (GO:0052927)|tRNA adenylyltransferase activity (GO:0004810)|tRNA binding (GO:0000049)			breast(2)|endometrium(3)|large_intestine(4)|lung(2)|urinary_tract(1)	12				Epithelial(13;0.00226)|OV - Ovarian serous cystadenocarcinoma(96;0.00592)|all cancers(10;0.011)		AATAGCAGGAGGAGCAGTGAG	0.363																																						ENST00000251607.6																			0				breast(2)|endometrium(3)|large_intestine(4)|lung(2)|urinary_tract(1)	12						c.(190-192)Gga>Tga		tRNA nucleotidyl transferase, CCA-adding, 1							70	68	69					3																	3178985		2203	4300	6503	SO:0001587	stop_gained	51095				protein targeting to mitochondrion|tRNA 3'-end processing	mitochondrion	ATP binding|tRNA adenylyltransferase activity|tRNA binding	g.chr3:3178985G>T	AF151805	CCDS2561.2	3p25.1	2002-05-30			ENSG00000072756	ENSG00000072756	2.7.7.25		17341	protein-coding gene	gene with protein product		612907				10810093, 11504732	Standard	NM_182916		Approved	MtCCA, CGI-47, CCA1	uc003bpp.4	Q96Q11	OTTHUMG00000090259	ENST00000251607.6:c.190G>T	3.37:g.3178985G>T	ENSP00000251607:p.Gly64*					TRNT1_ENST00000280591.6_Nonsense_Mutation_p.G64*	p.G64*	NM_182916.2	NP_886552.2	Q96Q11	TRNT1_HUMAN		Epithelial(13;0.00226)|OV - Ovarian serous cystadenocarcinoma(96;0.00592)|all cancers(10;0.011)	3	292	+			64					A8K2Z6|B7WP13|C9JKA2|Q8ND57|Q9BS97|Q9Y362	Nonsense_Mutation	SNP	ENST00000251607.6	37	c.190G>T	CCDS2561.2	.	.	.	.	.	.	.	.	.	.	G	29.5	5.007891	0.93287	.	.	ENSG00000072756	ENST00000251607;ENST00000280591	.	.	.	5.25	5.25	0.73442	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-18.841	18.8582	0.92262	0.0:0.0:1.0:0.0	.	.	.	.	X	64	.	ENSP00000251607:G64X	G	+	1	0	TRNT1	3153985	1.000000	0.71417	0.987000	0.45799	0.997000	0.91878	9.604000	0.98317	2.447000	0.82792	0.655000	0.94253	GGA		0.363	TRNT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337616.1			7	14	1	0	2.7689e-08	1	2.91998e-08	7	14					T	3178985	G	T	3178985	4	4	435	1	0	0	0	0	0	1	0	0	16570	1001	35	5	196	5	TRNT1	3	3178985	Nonsense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	93693	3178985	194843445	1632	22557											
CRBN	51185	broad.mit.edu	37	chr3	3215789	3215789	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atctttctgaattaaattccGcaccatactgacttcttgag	11	15	5	10	1	3	3	0	3	3	0	4	3	4	3	2	0	1	1	2	0	4	6			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:3215789G>A	ENST00000231948.4	-	3	353	c.331C>T	c.(331-333)Cgg>Tgg	p.R111W	CRBN_ENST00000432408.2_Missense_Mutation_p.R110W	NM_016302.3	NP_057386.2	Q96SW2	CRBN_HUMAN	cereblon	111	Lon.				negative regulation of ion transmembrane transport (GO:0034766)|negative regulation of protein homooligomerization (GO:0032463)|positive regulation of protein homodimerization activity (GO:0090073)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination (GO:0016567)	Cul4A-RING E3 ubiquitin ligase complex (GO:0031464)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP-dependent peptidase activity (GO:0004176)			endometrium(1)|kidney(1)|large_intestine(4)|lung(1)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	11				Epithelial(13;0.00244)|OV - Ovarian serous cystadenocarcinoma(96;0.00617)|all cancers(10;0.0079)	Lenalidomide(DB00480)|Pomalidomide(DB08910)|Thalidomide(DB01041)	ATTAAATTCCGCACCATACTG	0.408																																						ENST00000231948.4																			0				endometrium(1)|kidney(1)|large_intestine(4)|lung(1)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	11						c.(331-333)Cgg>Tgg		cereblon							96	98	97					3																	3215789		2203	4300	6503	SO:0001583	missense	51185				proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination	Cul4A-RING ubiquitin ligase complex|cytoplasm|membrane|nucleus	ATP-dependent peptidase activity|protein binding	g.chr3:3215789G>A	BC017419	CCDS2562.1, CCDS54547.1	3p26.3	2014-05-27			ENSG00000113851	ENSG00000113851			30185	protein-coding gene	gene with protein product		609262	"mental retardation, non-syndromic, autosomal recessive, 2A"	MRT2A		15557513	Standard	NM_016302		Approved	MRT2	uc003bpq.3	Q96SW2	OTTHUMG00000090261	ENST00000231948.4:c.331C>T	3.37:g.3215789G>A	ENSP00000231948:p.Arg111Trp					CRBN_ENST00000432408.2_Missense_Mutation_p.R110W	p.R111W	NM_016302.3	NP_057386.2	Q96SW2	CRBN_HUMAN		Epithelial(13;0.00244)|OV - Ovarian serous cystadenocarcinoma(96;0.00617)|all cancers(10;0.0079)	3	353	-			111			Lon.		B2R6H4|C9IZA9|C9JAH6|Q6AI62|Q6NVZ0|Q9UHW4	Missense_Mutation	SNP	ENST00000231948.4	37	c.331C>T	CCDS2562.1	.	.	.	.	.	.	.	.	.	.	G	27.8	4.860280	0.91433	.	.	ENSG00000113851	ENST00000231948;ENST00000432408;ENST00000546075	T;T	0.48836	0.8;0.8	5.75	5.75	0.90469	Peptidase S16, lon N-terminal (2);PUA-like domain (1);	0.000000	0.85682	D	0.000000	T	0.69043	0.3067	M	0.76170	2.325	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.978;0.996;0.998	T	0.71686	-0.4518	10	0.87932	D	0	-25.3919	15.5427	0.76066	0.0:0.0:0.8613:0.1387	.	48;110;111	F5H3U1;Q96SW2-2;Q96SW2	.;.;CRBN_HUMAN	W	111;110;48	ENSP00000231948:R111W;ENSP00000412499:R110W	ENSP00000231948:R111W	R	-	1	2	CRBN	3190789	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.309000	0.65774	2.704000	0.92352	0.650000	0.86243	CGG		0.408	CRBN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206579.3	NM_016302		21	52	0	0	0	1	0	21	52					A	3215789	G	A	3215789	3	1	435	1	0	0	0	0	1	0	0	0	3851	1086	38	1	1033	1	CRBN	3	3215789	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	36804	3215789	194806641	1633	22558											
LRRN1	57633	broad.mit.edu	37	chr3	3886434	3886434	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtgagtgtccacaactttgcGtatgtgaaattcgtccctgg	8	13	11	9	2	0	2	0	2	0	0	3	2	2	2	2	1	2	1	2	1	3	3	rs375458276		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:3886434G>A	ENST00000319331.3	+	2	870	c.109G>A	c.(109-111)Gta>Ata	p.V37I	SUMF1_ENST00000534863.1_Intron	NM_020873.5	NP_065924.3	Q6UXK5	LRRN1_HUMAN	leucine rich repeat neuronal 1	37	LRRNT.					integral component of membrane (GO:0016021)				NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(1)|urinary_tract(2)	26				Epithelial(13;0.000886)|all cancers(10;0.0032)|OV - Ovarian serous cystadenocarcinoma(96;0.00608)|STAD - Stomach adenocarcinoma(44;0.0617)		ACAACTTTGCGTATGTGAAAT	0.453																																						ENST00000319331.3																			0				NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(1)|urinary_tract(2)	26						c.(109-111)Gta>Ata		leucine rich repeat neuronal 1		G	ILE/VAL	2,4404	2.1+/-5.4	0,2,2201	137	125	129		109	5.8	0.2	3		129	0,8600		0,0,4300	no	missense	LRRN1	NM_020873.5	29	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	probably-damaging	37/717	3886434	2,13004	2203	4300	6503	SO:0001583	missense	57633					integral to membrane		g.chr3:3886434G>A	AB040930	CCDS33685.1	3p26.2	2013-01-11			ENSG00000175928	ENSG00000175928		"Immunoglobulin superfamily / I-set domain containing"	20980	protein-coding gene	gene with protein product	"fibronectin type III, immunoglobulin and leucine rich repeat domains 3"					10819331	Standard	NM_020873		Approved	FIGLER3	uc003bpt.4	Q6UXK5	OTTHUMG00000154934	ENST00000319331.3:c.109G>A	3.37:g.3886434G>A	ENSP00000314901:p.Val37Ile					SUMF1_ENST00000534863.1_Intron	p.V37I	NM_020873.5	NP_065924.3	Q6UXK5	LRRN1_HUMAN		Epithelial(13;0.000886)|all cancers(10;0.0032)|OV - Ovarian serous cystadenocarcinoma(96;0.00608)|STAD - Stomach adenocarcinoma(44;0.0617)	2	870	+			37			LRRNT.		Q3LID5|Q8IYV5|Q9H8V1|Q9P231	Missense_Mutation	SNP	ENST00000319331.3	37	c.109G>A	CCDS33685.1	.	.	.	.	.	.	.	.	.	.	G	26.1	4.704691	0.88924	4.54E-4	0.0	ENSG00000175928	ENST00000319331	T	0.22134	1.97	5.76	5.76	0.90799	Leucine-rich repeat-containing N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.45316	0.1336	L	0.58810	1.83	0.58432	D	0.999999	D	0.89917	1.0	D	0.79108	0.992	T	0.06991	-1.0796	10	0.37606	T	0.19	.	19.9759	0.97304	0.0:0.0:1.0:0.0	.	37	Q6UXK5	LRRN1_HUMAN	I	37	ENSP00000314901:V37I	ENSP00000314901:V37I	V	+	1	0	LRRN1	3861434	1.000000	0.71417	0.181000	0.23098	0.977000	0.68977	7.797000	0.85911	2.713000	0.92767	0.655000	0.94253	GTA		0.453	LRRN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337704.2	NM_020873		16	38	0	0	0	1	0	16	38					A	3886434	G	A	3886434	3	1	435	1	0	0	0	0	1	0	0	0	9034	1145	40	1	111	1	LRRN1	3	3886434	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	670645	3886434	194135996	1634	22559											
LRRN1	57633	broad.mit.edu	37	chr3	3886567	3886567	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acaagtgcttctcttacagaGcaataacatcgcaaagactg	15	9	7	10	1	1	2	0	0	1	2	3	2	1	2	0	0	4	3	0	0	5	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:3886567G>A	ENST00000319331.3	+	2	1003	c.242G>A	c.(241-243)aGc>aAc	p.S81N	SUMF1_ENST00000534863.1_Intron	NM_020873.5	NP_065924.3	Q6UXK5	LRRN1_HUMAN	leucine rich repeat neuronal 1	81						integral component of membrane (GO:0016021)				NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(1)|urinary_tract(2)	26				Epithelial(13;0.000886)|all cancers(10;0.0032)|OV - Ovarian serous cystadenocarcinoma(96;0.00608)|STAD - Stomach adenocarcinoma(44;0.0617)		CTCTTACAGAGCAATAACATC	0.438																																						ENST00000319331.3																			0				NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(1)|urinary_tract(2)	26						c.(241-243)aGc>aAc		leucine rich repeat neuronal 1							97	90	92					3																	3886567		2203	4300	6503	SO:0001583	missense	57633					integral to membrane		g.chr3:3886567G>A	AB040930	CCDS33685.1	3p26.2	2013-01-11			ENSG00000175928	ENSG00000175928		"Immunoglobulin superfamily / I-set domain containing"	20980	protein-coding gene	gene with protein product	"fibronectin type III, immunoglobulin and leucine rich repeat domains 3"					10819331	Standard	NM_020873		Approved	FIGLER3	uc003bpt.4	Q6UXK5	OTTHUMG00000154934	ENST00000319331.3:c.242G>A	3.37:g.3886567G>A	ENSP00000314901:p.Ser81Asn					SUMF1_ENST00000534863.1_Intron	p.S81N	NM_020873.5	NP_065924.3	Q6UXK5	LRRN1_HUMAN		Epithelial(13;0.000886)|all cancers(10;0.0032)|OV - Ovarian serous cystadenocarcinoma(96;0.00608)|STAD - Stomach adenocarcinoma(44;0.0617)	2	1003	+			81					Q3LID5|Q8IYV5|Q9H8V1|Q9P231	Missense_Mutation	SNP	ENST00000319331.3	37	c.242G>A	CCDS33685.1	.	.	.	.	.	.	.	.	.	.	G	27.9	4.870974	0.91587	.	.	ENSG00000175928	ENST00000319331	T	0.22743	1.94	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	T	0.33030	0.0849	N	0.21545	0.675	0.80722	D	1	D	0.76494	0.999	D	0.64144	0.922	T	0.02371	-1.1169	10	0.38643	T	0.18	.	19.9759	0.97304	0.0:0.0:1.0:0.0	.	81	Q6UXK5	LRRN1_HUMAN	N	81	ENSP00000314901:S81N	ENSP00000314901:S81N	S	+	2	0	LRRN1	3861567	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.787000	0.99055	2.713000	0.92767	0.655000	0.94253	AGC		0.438	LRRN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337704.2	NM_020873		17	43	0	0	0	1	0	17	43					A	3886567	G	A	3886567	3	1	435	1	0	0	0	0	1	0	0	0	9034	971	34	3	244	3	LRRN1	3	3886567	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	133	3886567	194135863	1635	22560											
SETMAR	6419	broad.mit.edu	37	chr3	4354786	4354786	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtttttgaatgcaatgtcCtgtgccgatgcagtgaccac	8	13	10	10	1	0	2	0	2	0	0	1	3	1	2	3	0	3	3	3	0	2	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:4354786C>A	ENST00000358065.4	+	2	428	c.361C>A	c.(361-363)Ctg>Atg	p.L121M	SETMAR_ENST00000430981.1_Missense_Mutation_p.L121M|SETMAR_ENST00000425863.1_Missense_Mutation_p.L121M|SUMF1_ENST00000534863.1_Intron	NM_006515.3	NP_006506.3	Q53H47	SETMR_HUMAN	SET domain and mariner transposase fusion gene	121	Histone-lysine N-methyltransferase.|Pre-SET. {ECO:0000255|PROSITE- ProRule:PRU00157}.				DNA catabolic process, endonucleolytic (GO:0000737)|DNA double-strand break processing (GO:0000729)|DNA integration (GO:0015074)|negative regulation of cell cycle arrest (GO:0071157)|negative regulation of chromosome organization (GO:2001251)|positive regulation of double-strand break repair via nonhomologous end joining (GO:2001034)|transposition, DNA-mediated (GO:0006313)	chromosome (GO:0005694)|nucleus (GO:0005634)	endonuclease activity (GO:0004519)|histone-lysine N-methyltransferase activity (GO:0018024)|protein homodimerization activity (GO:0042803)|structure-specific DNA binding (GO:0043566)|transposase activity (GO:0004803)|zinc ion binding (GO:0008270)			endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|ovary(1)	9		Melanoma(143;0.0657)		Epithelial(13;0.0025)|OV - Ovarian serous cystadenocarcinoma(96;0.011)|all cancers(10;0.0114)		ATGCAATGTCCTGTGCCGATG	0.473								Chromatin Structure																														ENST00000358065.4																			0				endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|ovary(1)	9						c.(361-363)Ctg>Atg	Chromatin Structure	SET domain and mariner transposase fusion gene							74	65	68					3																	4354786		2203	4300	6503	SO:0001583	missense	6419				DNA integration|DNA repair|transposition, DNA-mediated	chromosome|nucleus	DNA binding|endonuclease activity|histone-lysine N-methyltransferase activity|transposase activity|zinc ion binding	g.chr3:4354786C>A	U80776	CCDS2563.2, CCDS58814.1, CCDS63528.1	3p26.2	2013-01-31			ENSG00000170364	ENSG00000170364			10762	protein-coding gene	gene with protein product		609834				9461395	Standard	NM_006515		Approved	metnase	uc011asp.2	Q53H47	OTTHUMG00000090265	ENST00000358065.4:c.361C>A	3.37:g.4354786C>A	ENSP00000373354:p.Leu121Met					SUMF1_ENST00000534863.1_Intron|SETMAR_ENST00000430981.1_Missense_Mutation_p.L121M|SETMAR_ENST00000425863.1_Missense_Mutation_p.L121M	p.L121M	NM_006515.3	NP_006506.3	Q53H47	SETMR_HUMAN		Epithelial(13;0.0025)|OV - Ovarian serous cystadenocarcinoma(96;0.011)|all cancers(10;0.0114)	2	428	+		Melanoma(143;0.0657)	108			Histone-lysine N-methyltransferase.|Pre-SET.		B4DY74|E7EN68|Q13579|Q1G668|Q96F41	Missense_Mutation	SNP	ENST00000358065.4	37	c.361C>A	CCDS2563.2	.	.	.	.	.	.	.	.	.	.	C	4.936	0.173832	0.09391	.	.	ENSG00000170364	ENST00000358065;ENST00000430981;ENST00000425863	T;T;T	0.77489	-1.1;-1.1;-1.1	5.18	-0.903	0.10534	Pre-SET zinc-binding sub-group (1);Pre-SET domain (2);	.	.	.	.	T	0.73666	0.3616	L	0.31664	0.95	0.20563	N	0.999889	P;B;B	0.41710	0.76;0.06;0.003	P;B;B	0.51974	0.686;0.103;0.02	T	0.64322	-0.6435	9	0.28530	T	0.3	.	10.7905	0.46429	0.5605:0.3662:0.0:0.0733	.	121;108;121	E7EN68;Q53H47;C9JHK2	.;SETMR_HUMAN;.	M	121	ENSP00000373354:L121M;ENSP00000403000:L121M;ENSP00000403145:L121M	ENSP00000373354:L121M	L	+	1	2	SETMAR	4329786	0.055000	0.20627	0.303000	0.25071	0.582000	0.36321	0.473000	0.22132	-0.099000	0.12263	0.557000	0.71058	CTG		0.473	SETMAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206587.4	NM_006515		7	13	1	0	5.18039e-06	1	5.37127e-06	7	13					A	4354786	C	A	4354786	3	1	435	1	0	0	0	0	1	0	0	0	14140	680	24	5	367	5	SETMAR	3	4354786	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	468219	4354786	193667644	1636	22561											
SUMF1	285362	broad.mit.edu	37	chr3	4452611	4452611	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtctgaagtccattcccatgCgttccccactatgttgtata	8	14	7	12	1	1	1	0	1	1	0	4	1	4	1	4	0	1	3	4	0	4	6			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:4452611C>T	ENST00000272902.5	-	7	927	c.892G>A	c.(892-894)Gca>Aca	p.A298T	SUMF1_ENST00000405420.2_Missense_Mutation_p.A298T|SUMF1_ENST00000383843.5_Missense_Mutation_p.A273T|SUMF1_ENST00000458465.2_Missense_Mutation_p.A166T|SUMF1_ENST00000534863.1_Missense_Mutation_p.A298T	NM_182760.3	NP_877437.2	Q8NBK3	SUMF1_HUMAN	sulfatase modifying factor 1	298					cellular protein metabolic process (GO:0044267)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum lumen (GO:0005788)	metal ion binding (GO:0046872)|oxidoreductase activity (GO:0016491)			breast(1)|endometrium(1)|large_intestine(2)|lung(5)|prostate(1)|upper_aerodigestive_tract(3)	13		Melanoma(143;0.068)|Colorectal(144;0.233)		Epithelial(13;0.0147)|OV - Ovarian serous cystadenocarcinoma(96;0.0444)|all cancers(10;0.0549)		CATTCCCATGCGTTCCCCACT	0.423																																						ENST00000272902.5																			0				breast(1)|endometrium(1)|large_intestine(2)|lung(5)|prostate(1)|upper_aerodigestive_tract(3)	13						c.(892-894)Gca>Aca		sulfatase modifying factor 1							199	177	185					3																	4452611		2203	4300	6503	SO:0001583	missense	285362					endoplasmic reticulum lumen	metal ion binding|oxidoreductase activity	g.chr3:4452611C>T	BC017005	CCDS2564.1, CCDS54548.1, CCDS54549.1	3p26.1	2009-07-23			ENSG00000144455	ENSG00000144455			20376	protein-coding gene	gene with protein product		607939				12757705, 12757706	Standard	NM_182760		Approved	FGE, UNQ3037	uc003bpz.2	Q8NBK3	OTTHUMG00000090269	ENST00000272902.5:c.892G>A	3.37:g.4452611C>T	ENSP00000272902:p.Ala298Thr					SUMF1_ENST00000458465.2_Missense_Mutation_p.A166T|SUMF1_ENST00000534863.1_Missense_Mutation_p.A298T|SUMF1_ENST00000405420.2_Missense_Mutation_p.A298T|SUMF1_ENST00000383843.5_Missense_Mutation_p.A273T	p.A298T	NM_182760.3	NP_877437.2	Q8NBK3	SUMF1_HUMAN		Epithelial(13;0.0147)|OV - Ovarian serous cystadenocarcinoma(96;0.0444)|all cancers(10;0.0549)	7	927	-		Melanoma(143;0.068)|Colorectal(144;0.233)	298					B4DXK5|B7XD05|E9PGL0|G5E9B0|Q0VAC6|Q0VAC7|Q2NL78|Q53ZE4|Q6UY39|Q96AK5|Q96DK8	Missense_Mutation	SNP	ENST00000272902.5	37	c.892G>A	CCDS2564.1	.	.	.	.	.	.	.	.	.	.	C	13.08	2.130332	0.37630	.	.	ENSG00000144455	ENST00000534982;ENST00000534863;ENST00000272902;ENST00000383843;ENST00000458465;ENST00000405420	D;D;D;D;D	0.97731	-4.51;-4.51;-4.51;-3.44;-4.51	5.42	5.42	0.78866	C-type lectin fold (1);Formylglycine-generating sulphatase enzyme domain (2);	0.253406	0.45126	D	0.000394	D	0.97536	0.9193	L	0.55743	1.74	0.41894	D	0.990384	D;B;P;P	0.53885	0.963;0.234;0.942;0.646	P;B;P;B	0.52909	0.467;0.076;0.713;0.189	D	0.98198	1.0466	10	0.59425	D	0.04	-33.5749	17.9951	0.89181	0.0:1.0:0.0:0.0	.	166;273;298;298	E9PF05;G5E9B0;E9PGL0;Q8NBK3	.;.;.;SUMF1_HUMAN	T	298;298;298;273;166;298	ENSP00000440421:A298T;ENSP00000272902:A298T;ENSP00000373355:A273T;ENSP00000410060:A166T;ENSP00000384977:A298T	ENSP00000272902:A298T	A	-	1	0	SUMF1	4427611	0.981000	0.34729	0.007000	0.13788	0.023000	0.10783	6.955000	0.76007	2.544000	0.85801	0.561000	0.74099	GCA		0.423	SUMF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206591.2	NM_182760		36	60	0	0	0	1	0	36	60					T	4452611	C	T	4452611	3	4	435	1	0	0	0	0	1	0	0	0	15382	768	27	1	244	1	SUMF1	3	4452611	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	97825	4452611	193569819	1637	22562											
ITPR1	3708	broad.mit.edu	37	chr3	4709136	4709136	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggctgaagacactatcactGccctgctccacaataatcgg	11	9	8	13	1	1	2	1	1	0	1	3	2	2	2	2	2	2	2	2	2	4	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:4709136G>A	ENST00000443694.2	+	15	1744	c.1744G>A	c.(1744-1746)Gcc>Acc	p.A582T	ITPR1_ENST00000456211.2_Missense_Mutation_p.A582T|ITPR1_ENST00000423119.2_Missense_Mutation_p.A597T|ITPR1_ENST00000357086.4_Missense_Mutation_p.A597T|ITPR1_ENST00000354582.6_Missense_Mutation_p.A597T|ITPR1_ENST00000302640.8_Missense_Mutation_p.A582T|ITPR1_ENST00000544951.1_Intron			Q14643	ITPR1_HUMAN	inositol 1,4,5-trisphosphate receptor, type 1	597					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|negative regulation of calcium-mediated signaling (GO:0050849)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|post-embryonic development (GO:0009791)|regulation of insulin secretion (GO:0050796)|release of sequestered calcium ion into cytosol (GO:0051209)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|voluntary musculoskeletal movement (GO:0050882)	calcineurin complex (GO:0005955)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear inner membrane (GO:0005637)|nucleolus (GO:0005730)|platelet dense granule membrane (GO:0031088)|platelet dense tubular network (GO:0031094)|platelet dense tubular network membrane (GO:0031095)|postsynaptic density (GO:0014069)|sarcoplasmic reticulum (GO:0016529)	calcium channel inhibitor activity (GO:0019855)|calcium ion transmembrane transporter activity (GO:0015085)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|intracellular ligand-gated calcium channel activity (GO:0005218)|phosphatidylinositol binding (GO:0035091)			NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)	Caffeine(DB00201)	CACTATCACTGCCCTGCTCCA	0.473																																						ENST00000302640.8																			0				NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106						c.(1744-1746)Gcc>Acc		inositol 1,4,5-trisphosphate receptor, type 1							66	61	63					3																	4709136		1941	4171	6112	SO:0001583	missense	3708				activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding	g.chr3:4709136G>A	D26070	CCDS46740.1, CCDS46740.2, CCDS54550.1, CCDS54551.1	3p26.1	2014-06-12	2011-04-28			ENSG00000150995		"Ion channels / Inositol triphosphate receptors"	6180	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 94"	147265	"spinocerebellar ataxia 15", "spinocerebellar ataxia 16", "spinocerebellar ataxia 29"	SCA15, SCA16, SCA29		7945203, 7500840, 17590087, 17932120, 22986007	Standard	NM_001099952		Approved	Insp3r1, IP3R1, ACV, PPP1R94	uc003bqc.3	Q14643		ENST00000443694.2:c.1744G>A	3.37:g.4709136G>A	ENSP00000401671:p.Ala582Thr					ITPR1_ENST00000443694.2_Missense_Mutation_p.A582T|ITPR1_ENST00000456211.2_Missense_Mutation_p.A582T|ITPR1_ENST00000423119.2_Missense_Mutation_p.A597T|ITPR1_ENST00000354582.6_Missense_Mutation_p.A597T|ITPR1_ENST00000357086.4_Missense_Mutation_p.A597T|ITPR1_ENST00000544951.1_Intron	p.A582T	NM_001168272.1	NP_001161744.1	Q14643	ITPR1_HUMAN		Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)	17	2094	+			597					E7EPX7|E9PDE9|Q14660|Q99897	Missense_Mutation	SNP	ENST00000443694.2	37	c.1744G>A	CCDS54551.1	.	.	.	.	.	.	.	.	.	.	G	33	5.232632	0.95207	.	.	ENSG00000150995	ENST00000356617;ENST00000302640;ENST00000354582;ENST00000423119;ENST00000357086;ENST00000456211;ENST00000443694	D;D;D;D;D;D	0.96365	-3.99;-3.99;-3.99;-3.99;-3.99;-3.99	4.74	4.74	0.60224	Intracellular calcium-release channel (1);	0.000000	0.85682	D	0.000000	D	0.98419	0.9474	M	0.91196	3.185	0.80722	D	1	D;D;D	0.67145	0.966;0.996;0.996	D;D;D	0.72625	0.926;0.978;0.978	D	0.98713	1.0705	10	0.46703	T	0.11	.	17.946	0.89038	0.0:0.0:1.0:0.0	.	582;597;597	E7EPX7;Q14643;G5E9P1	.;ITPR1_HUMAN;.	T	597;582;597;597;597;582;582	ENSP00000306253:A582T;ENSP00000346595:A597T;ENSP00000405934:A597T;ENSP00000349597:A597T;ENSP00000397885:A582T;ENSP00000401671:A582T	ENSP00000306253:A582T	A	+	1	0	ITPR1	4684136	1.000000	0.71417	0.998000	0.56505	0.937000	0.57800	9.560000	0.98139	2.462000	0.83206	0.555000	0.69702	GCC		0.473	ITPR1-004	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337982.3	NM_002222		13	16	0	0	0	1	0	13	16					A	4709136	G	A	4709136	3	1	435	1	0	0	0	0	1	0	0	0	7920	1319	46	3	1851	3	ITPR1	3	4709136	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	256525	4709136	193313294	1638	22563											
ITPR1	3708	broad.mit.edu	37	chr3	4824396	4824396	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cggcgtcccccaggaacgtgGggcacaacatctacatatta	11	7	10	13	3	1	0	0	0	1	0	2	1	2	1	2	4	3	1	2	4	5	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:4824396G>A	ENST00000443694.2	+	47	6436	c.6436G>A	c.(6436-6438)Ggg>Agg	p.G2146R	ITPR1_ENST00000357086.4_Missense_Mutation_p.G2113R|ITPR1_ENST00000456211.2_Missense_Mutation_p.G2098R|ITPR1_ENST00000302640.8_Missense_Mutation_p.G2146R|ITPR1_ENST00000354582.6_Missense_Mutation_p.G2146R|ITPR1_ENST00000423119.2_Missense_Mutation_p.G2113R|ITPR1_ENST00000544951.1_Intron			Q14643	ITPR1_HUMAN	inositol 1,4,5-trisphosphate receptor, type 1	2161					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|negative regulation of calcium-mediated signaling (GO:0050849)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|post-embryonic development (GO:0009791)|regulation of insulin secretion (GO:0050796)|release of sequestered calcium ion into cytosol (GO:0051209)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|voluntary musculoskeletal movement (GO:0050882)	calcineurin complex (GO:0005955)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear inner membrane (GO:0005637)|nucleolus (GO:0005730)|platelet dense granule membrane (GO:0031088)|platelet dense tubular network (GO:0031094)|platelet dense tubular network membrane (GO:0031095)|postsynaptic density (GO:0014069)|sarcoplasmic reticulum (GO:0016529)	calcium channel inhibitor activity (GO:0019855)|calcium ion transmembrane transporter activity (GO:0015085)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|intracellular ligand-gated calcium channel activity (GO:0005218)|phosphatidylinositol binding (GO:0035091)			NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)	Caffeine(DB00201)	CAGGAACGTGGGGCACAACAT	0.542																																						ENST00000354582.6																			0				NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106						c.(6436-6438)Ggg>Agg		inositol 1,4,5-trisphosphate receptor, type 1							91	100	97					3																	4824396		2087	4188	6275	SO:0001583	missense	3708				activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding	g.chr3:4824396G>A	D26070	CCDS46740.1, CCDS46740.2, CCDS54550.1, CCDS54551.1	3p26.1	2014-06-12	2011-04-28			ENSG00000150995		"Ion channels / Inositol triphosphate receptors"	6180	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 94"	147265	"spinocerebellar ataxia 15", "spinocerebellar ataxia 16", "spinocerebellar ataxia 29"	SCA15, SCA16, SCA29		7945203, 7500840, 17590087, 17932120, 22986007	Standard	NM_001099952		Approved	Insp3r1, IP3R1, ACV, PPP1R94	uc003bqc.3	Q14643		ENST00000443694.2:c.6436G>A	3.37:g.4824396G>A	ENSP00000401671:p.Gly2146Arg					ITPR1_ENST00000456211.2_Missense_Mutation_p.G2098R|ITPR1_ENST00000443694.2_Missense_Mutation_p.G2146R|ITPR1_ENST00000423119.2_Missense_Mutation_p.G2113R|ITPR1_ENST00000357086.4_Missense_Mutation_p.G2113R|ITPR1_ENST00000302640.8_Missense_Mutation_p.G2146R|ITPR1_ENST00000544951.1_Intron	p.G2146R			Q14643	ITPR1_HUMAN		Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)	49	6786	+			2161					E7EPX7|E9PDE9|Q14660|Q99897	Missense_Mutation	SNP	ENST00000443694.2	37	c.6436G>A	CCDS54551.1	.	.	.	.	.	.	.	.	.	.	G	33	5.215705	0.95104	.	.	ENSG00000150995	ENST00000356617;ENST00000302640;ENST00000354582;ENST00000423119;ENST00000426160;ENST00000357086;ENST00000456211;ENST00000443694	D;D;D;D;D;D	0.93076	-3.16;-3.15;-3.15;-3.15;-3.13;-3.16	5.17	5.17	0.71159	.	0.000000	0.85682	D	0.000000	D	0.97458	0.9168	M	0.91972	3.26	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.79784	0.951;0.993	D	0.98368	1.0552	10	0.87932	D	0	.	18.6784	0.91537	0.0:0.0:1.0:0.0	.	2161;2113	Q14643;G5E9P1	ITPR1_HUMAN;.	R	2161;2146;2146;2113;607;2113;2098;2146	ENSP00000306253:G2146R;ENSP00000346595:G2146R;ENSP00000405934:G2113R;ENSP00000349597:G2113R;ENSP00000397885:G2098R;ENSP00000401671:G2146R	ENSP00000306253:G2146R	G	+	1	0	ITPR1	4799396	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.783000	0.99037	2.407000	0.81776	0.655000	0.94253	GGG		0.542	ITPR1-004	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337982.3	NM_002222		9	21	0	0	0	1	0	9	21					A	4824396	G	A	4824396	3	1	435	1	0	0	0	0	1	0	0	0	7920	1232	43	3	6671	3	ITPR1	3	4824396	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	115260	4824396	193198034	1639	22564											
BHLHE40	8553	broad.mit.edu	37	chr3	5025136	5025136	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgatcccaccttcagcgaCtgcctacctgcccatgctgg	6	9	8	18	1	1	1	1	1	0	0	2	2	2	1	6	1	5	1	6	1	1	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:5025136C>A	ENST00000256495.3	+	5	1601	c.998C>A	c.(997-999)aCt>aAt	p.T333N		NM_003670.2	NP_003661.1	O14503	BHE40_HUMAN	basic helix-loop-helix family, member e40	333					circadian regulation of gene expression (GO:0032922)|entrainment of circadian clock by photoperiod (GO:0043153)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleus (GO:0005634)	bHLH transcription factor binding (GO:0043425)|E-box binding (GO:0070888)|MRF binding (GO:0043426)|protein domain specific binding (GO:0019904)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(1)|lung(2)|ovary(1)|skin(2)	12						CCTTCAGCGACTGCCTACCTG	0.597																																						ENST00000256495.3																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(1)|lung(2)|ovary(1)|skin(2)	12						c.(997-999)aCt>aAt		basic helix-loop-helix family, member e40							175	135	149					3																	5025136		2203	4300	6503	SO:0001583	missense	8553					Golgi apparatus|nucleolus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr3:5025136C>A	AB004066	CCDS2565.1	3p26	2009-01-12	2009-01-12	2009-01-12	ENSG00000134107	ENSG00000134107		"Basic helix-loop-helix proteins"	1046	protein-coding gene	gene with protein product	"differentially expressed in chondrocytes 1", " differentiated embryo chondrocyte expressed gene 1"	604256	"basic helix-loop-helix domain containing, class B, 2"	STRA13, BHLHB2		9240428, 10449910, 18557763	Standard	NM_003670		Approved	DEC1, bHLHe40	uc003bqf.3	O14503	OTTHUMG00000119035	ENST00000256495.3:c.998C>A	3.37:g.5025136C>A	ENSP00000256495:p.Thr333Asn						p.T333N	NM_003670.2	NP_003661.1	O14503	BHE40_HUMAN			5	1601	+			333					Q96TD3	Missense_Mutation	SNP	ENST00000256495.3	37	c.998C>A	CCDS2565.1	.	.	.	.	.	.	.	.	.	.	C	17.56	3.420027	0.62622	.	.	ENSG00000134107	ENST00000256495	T	0.42513	0.97	5.51	5.51	0.81932	.	0.206214	0.51477	D	0.000089	T	0.36358	0.0964	L	0.35414	1.06	0.54753	D	0.999986	B	0.28378	0.209	B	0.22152	0.038	T	0.12630	-1.0540	10	0.49607	T	0.09	.	19.4173	0.94706	0.0:1.0:0.0:0.0	.	333	O14503	BHE40_HUMAN	N	333	ENSP00000256495:T333N	ENSP00000256495:T333N	T	+	2	0	BHLHE40	5000136	1.000000	0.71417	0.929000	0.37066	0.952000	0.60782	7.311000	0.78958	2.589000	0.87451	0.655000	0.94253	ACT		0.597	BHLHE40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239244.2	NM_003670		15	31	1	0	2.32078e-09	1	2.46314e-09	15	31					A	5025136	C	A	5025136	3	1	435	1	0	0	0	0	1	0	0	0	1423	565	20	5	1016	5	BHLHE40	3	5025136	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	200740	5025136	192997294	1640	22565											
GRM7	2917	broad.mit.edu	37	chr3	7188188	7188188	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acccgagctaagtgatgaccGgcgctatgacttcttctctc	8	11	9	13	3	2	3	0	3	2	0	4	4	2	3	2	1	1	2	2	1	2	4	rs144324520	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:7188188G>A	ENST00000357716.4	+	2	843	c.569G>A	c.(568-570)cGg>cAg	p.R190Q	GRM7_ENST00000389336.4_Missense_Mutation_p.R190Q|GRM7_ENST00000402647.2_Missense_Mutation_p.R190Q|GRM7_ENST00000403881.1_Missense_Mutation_p.R190Q|GRM7_ENST00000486284.1_Missense_Mutation_p.R190Q	NM_000844.3	NP_000835.1	Q14831	GRM7_HUMAN	glutamate receptor, metabotropic 7	190					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|adult behavior (GO:0030534)|conditioned taste aversion (GO:0001661)|multicellular organismal response to stress (GO:0033555)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of cAMP biosynthetic process (GO:0030818)|negative regulation of glutamate secretion (GO:0014050)|regulation of cyclase activity (GO:0031279)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of smell (GO:0007608)|sensory perception of sound (GO:0007605)|short-term memory (GO:0007614)|synaptic transmission (GO:0007268)|transmission of nerve impulse (GO:0019226)	asymmetric synapse (GO:0032279)|axon (GO:0030424)|cell cortex (GO:0005938)|dendrite (GO:0030425)|dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)|receptor complex (GO:0043235)	adenylate cyclase inhibitor activity (GO:0010855)|calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|glutamate binding (GO:0016595)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)|PDZ domain binding (GO:0030165)|serine binding (GO:0070905)|voltage-gated calcium channel activity (GO:0005245)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76						AGTGATGACCGGCGCTATGAC	0.527													G|||	4	0.000798722	0	0.0014	5008	,	,		18593	0		0.003	False		,,,				2504	0					ENST00000486284.1																			0				breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76						c.(568-570)cGg>cAg		glutamate receptor, metabotropic 7	L-Glutamic Acid(DB00142)	G	GLN/ARG,GLN/ARG	0,4406		0,0,2203	134	119	124		569,569	5.9	1	3	dbSNP_134	124	8,8592	6.4+/-24.3	0,8,4292	yes	missense,missense	GRM7	NM_000844.3,NM_181874.2	43,43	0,8,6495	AA,AG,GG		0.093,0.0,0.0615	benign,benign	190/916,190/923	7188188	8,12998	2203	4300	6503	SO:0001583	missense	2917				negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission	asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone	adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding	g.chr3:7188188G>A	U92458	CCDS43042.1	3p26-p25	2014-06-12			ENSG00000196277	ENSG00000196277		"GPCR / Class C : Glutamate receptors, metabotropic", "Glutamate receptors"	4599	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 87"	604101				8288585, 8840028	Standard	NM_000844		Approved	GLUR7, GPRC1G, mGlu7, MGLUR7, PPP1R87	uc003bql.2	Q14831	OTTHUMG00000125549	ENST00000357716.4:c.569G>A	3.37:g.7188188G>A	ENSP00000350348:p.Arg190Gln					GRM7_ENST00000402647.2_Missense_Mutation_p.R190Q|GRM7_ENST00000357716.4_Missense_Mutation_p.R190Q|GRM7_ENST00000403881.1_Missense_Mutation_p.R190Q|GRM7_ENST00000389336.4_Missense_Mutation_p.R190Q	p.R190Q	NM_181874.2	NP_870989.1	Q14831	GRM7_HUMAN			2	843	+			190					Q8NFS2|Q8NFS3|Q8NFS4	Missense_Mutation	SNP	ENST00000357716.4	37	c.569G>A	CCDS43042.1	3	0.0013736263736263737	0	0.0	1	0.0027624309392265192	0	0.0	2	0.002638522427440633	G	11.63	1.696585	0.30142	0.0	9.3E-4	ENSG00000196277	ENST00000357716;ENST00000486284;ENST00000389336;ENST00000403881;ENST00000525747;ENST00000402647;ENST00000413492	D;D;D;D;D	0.82433	-1.61;-1.61;-1.61;-1.61;-1.61	5.87	5.87	0.94306	Extracellular ligand-binding receptor (1);	0.220938	0.38548	N	0.001652	T	0.71693	0.3370	N	0.10782	0.045	0.37410	D	0.913184	B;B;B	0.13145	0.005;0.007;0.003	B;B;B	0.11329	0.003;0.004;0.006	T	0.66901	-0.5806	10	0.32370	T	0.25	.	19.1458	0.93467	0.0:0.0:1.0:0.0	.	190;190;190	Q14831-5;Q14831;Q14831-2	.;GRM7_HUMAN;.	Q	190	ENSP00000350348:R190Q;ENSP00000417536:R190Q;ENSP00000373987:R190Q;ENSP00000385664:R190Q;ENSP00000384585:R190Q	ENSP00000350348:R190Q	R	+	2	0	GRM7	7163188	1.000000	0.71417	1.000000	0.80357	0.175000	0.22909	3.432000	0.52824	2.941000	0.99782	0.655000	0.94253	CGG		0.527	GRM7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000246895.3	NM_000844		26	43	0	0	0	1	0	26	43					A	7188188	G	A	7188188	3	1	435	1	0	0	0	0	1	0	0	0	6802	1116	39	2	575	2	GRM7	3	7188188	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	2163052	7188188	190834242	1641	22566											
RAD18	56852	broad.mit.edu	37	chr3	8981263	8981263	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gaggctttccttcttctcttCgcgtgataaacagctgtcta	7	15	8	11	2	3	1	0	1	3	0	6	2	4	1	1	1	2	2	1	1	3	6			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:8981263C>T	ENST00000264926.2	-	6	795	c.679G>A	c.(679-681)Gaa>Aaa	p.E227K	RAD18_ENST00000495087.1_5'Flank	NM_020165.3	NP_064550.3	Q9NS91	RAD18_HUMAN	RAD18 E3 ubiquitin protein ligase	227					DNA repair (GO:0006281)|negative regulation of DNA recombination (GO:0045910)|protein ubiquitination (GO:0016567)|response to UV (GO:0009411)|spermatogenesis (GO:0007283)	chromatin (GO:0000785)|nucleus (GO:0005634)|replication fork (GO:0005657)|XY body (GO:0001741)	damaged DNA binding (GO:0003684)|ligase activity (GO:0016874)|polyubiquitin binding (GO:0031593)|ubiquitin protein ligase binding (GO:0031625)|Y-form DNA binding (GO:0000403)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|prostate(1)|skin(3)	15				OV - Ovarian serous cystadenocarcinoma(96;0.0552)		TTCTTCTCTTCGCGTGATAAA	0.403								Rad6 pathway																														ENST00000264926.2																			0				breast(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|prostate(1)|skin(3)	15						c.(679-681)Gaa>Aaa	Rad6 pathway	RAD18 homolog (S. cerevisiae)							183	187	186					3																	8981263		2203	4300	6503	SO:0001583	missense	56852				DNA repair	nucleus|replication fork	damaged DNA binding|ligase activity|ubiquitin protein ligase binding|Y-form DNA binding|zinc ion binding	g.chr3:8981263C>T		CCDS2571.1	3p25-p24	2014-08-04	2014-08-04		ENSG00000070950	ENSG00000070950		"RING-type (C3HC4) zinc fingers"	18278	protein-coding gene	gene with protein product		605256	"RAD18 homolog (S. cerevisiae)"			10884424, 10908344	Standard	NM_020165		Approved	RNF73	uc003brd.3	Q9NS91	OTTHUMG00000090545	ENST00000264926.2:c.679G>A	3.37:g.8981263C>T	ENSP00000264926:p.Glu227Lys						p.E227K	NM_020165.3	NP_064550.3	Q9NS91	RAD18_HUMAN		OV - Ovarian serous cystadenocarcinoma(96;0.0552)	6	795	-			227					Q58F55|Q9NRT6	Missense_Mutation	SNP	ENST00000264926.2	37	c.679G>A	CCDS2571.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.308529	0.81247	.	.	ENSG00000070950	ENST00000264926	T	0.23754	1.89	5.87	5.87	0.94306	.	0.282060	0.40064	N	0.001186	T	0.29389	0.0732	M	0.70275	2.135	0.53688	D	0.999975	B	0.31125	0.309	B	0.27500	0.08	T	0.12218	-1.0556	10	0.10377	T	0.69	-8.7997	18.7722	0.91896	0.0:1.0:0.0:0.0	.	227	Q9NS91	RAD18_HUMAN	K	227	ENSP00000264926:E227K	ENSP00000264926:E227K	E	-	1	0	RAD18	8956263	0.993000	0.37304	0.588000	0.28705	0.936000	0.57629	7.266000	0.78452	2.774000	0.95407	0.650000	0.86243	GAA		0.403	RAD18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207071.2	NM_020165		9	56	0	0	0	1	0	9	56					T	8981263	C	T	8981263	3	4	435	1	0	0	0	0	1	0	0	0	12980	893	31	2	840	2	RAD18	3	8981263	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	1793075	8981263	189041167	1642	22567											
RAD18	56852	broad.mit.edu	37	chr3	8988943	8988943	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttaccagttcatctaatatgCggttatttttcagatccggc	9	16	7	9	2	3	1	2	0	1	1	4	1	4	1	2	2	2	2	2	2	4	7	rs377707311		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:8988943C>T	ENST00000264926.2	-	4	343	c.227G>A	c.(226-228)cGc>cAc	p.R76H	RAD18_ENST00000495087.1_5'UTR	NM_020165.3	NP_064550.3	Q9NS91	RAD18_HUMAN	RAD18 E3 ubiquitin protein ligase	76					DNA repair (GO:0006281)|negative regulation of DNA recombination (GO:0045910)|protein ubiquitination (GO:0016567)|response to UV (GO:0009411)|spermatogenesis (GO:0007283)	chromatin (GO:0000785)|nucleus (GO:0005634)|replication fork (GO:0005657)|XY body (GO:0001741)	damaged DNA binding (GO:0003684)|ligase activity (GO:0016874)|polyubiquitin binding (GO:0031593)|ubiquitin protein ligase binding (GO:0031625)|Y-form DNA binding (GO:0000403)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|prostate(1)|skin(3)	15				OV - Ovarian serous cystadenocarcinoma(96;0.0552)		ATCTAATATGCGGTTATTTTT	0.323								Rad6 pathway																														ENST00000264926.2																			0				breast(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|prostate(1)|skin(3)	15						c.(226-228)cGc>cAc	Rad6 pathway	RAD18 homolog (S. cerevisiae)		C	HIS/ARG	1,4403	2.1+/-5.4	0,1,2201	204	214	210		227	5	1	3		210	1,8599	1.2+/-3.3	0,1,4299	no	missense	RAD18	NM_020165.3	29	0,2,6500	TT,TC,CC		0.0116,0.0227,0.0154	probably-damaging	76/496	8988943	2,13002	2202	4300	6502	SO:0001583	missense	56852				DNA repair	nucleus|replication fork	damaged DNA binding|ligase activity|ubiquitin protein ligase binding|Y-form DNA binding|zinc ion binding	g.chr3:8988943C>T		CCDS2571.1	3p25-p24	2014-08-04	2014-08-04		ENSG00000070950	ENSG00000070950		"RING-type (C3HC4) zinc fingers"	18278	protein-coding gene	gene with protein product		605256	"RAD18 homolog (S. cerevisiae)"			10884424, 10908344	Standard	NM_020165		Approved	RNF73	uc003brd.3	Q9NS91	OTTHUMG00000090545	ENST00000264926.2:c.227G>A	3.37:g.8988943C>T	ENSP00000264926:p.Arg76His					RAD18_ENST00000495087.1_5'UTR	p.R76H	NM_020165.3	NP_064550.3	Q9NS91	RAD18_HUMAN		OV - Ovarian serous cystadenocarcinoma(96;0.0552)	4	343	-			76					Q58F55|Q9NRT6	Missense_Mutation	SNP	ENST00000264926.2	37	c.227G>A	CCDS2571.1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.432240	0.83776	2.27E-4	1.16E-4	ENSG00000070950	ENST00000264926;ENST00000413832	T;T	0.17370	2.28;2.28	5.88	5.01	0.66863	Zinc finger, RING/FYVE/PHD-type (1);	0.000000	0.85682	D	0.000000	T	0.30103	0.0754	M	0.74258	2.255	0.51012	D	0.999905	P	0.52692	0.955	P	0.55749	0.783	T	0.01839	-1.1263	10	0.16420	T	0.52	-12.6025	9.9528	0.41649	0.0:0.9105:0.0:0.0895	.	76	Q9NS91	RAD18_HUMAN	H	76	ENSP00000264926:R76H;ENSP00000412261:R76H	ENSP00000264926:R76H	R	-	2	0	RAD18	8963943	0.992000	0.36948	0.967000	0.41034	0.970000	0.65996	3.264000	0.51553	2.797000	0.96272	0.561000	0.74099	CGC		0.323	RAD18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207071.2	NM_020165		35	62	0	0	0	1	0	35	62					T	8988943	C	T	8988943	3	4	435	1	0	0	0	0	1	0	0	0	12980	768	27	1	1300	1	RAD18	3	8988943	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	7680	8988943	189033487	1643	22568											
THUMPD3	25917	broad.mit.edu	37	chr3	9406772	9406772	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	catgtgtgacattgaagaagCcactaaccaactcctagatg	14	9	8	10	0	0	4	0	2	0	2	1	4	1	4	3	0	3	0	3	0	5	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:9406772C>T	ENST00000345094.3	+	2	354	c.20C>T	c.(19-21)gCc>gTc	p.A7V	RP11-380O24.1_ENST00000466431.2_RNA|RP11-380O24.1_ENST00000491930.2_RNA|THUMPD3_ENST00000452837.2_Missense_Mutation_p.A7V|RP11-380O24.1_ENST00000517687.1_RNA|RP11-380O24.1_ENST00000518331.1_RNA|SETD5-AS1_ENST00000468186.1_RNA|THUMPD3_ENST00000515662.2_Missense_Mutation_p.A7V|RP11-380O24.1_ENST00000517846.1_RNA	NM_001114092.1|NM_015453.2	NP_001107564.1|NP_056268.2	Q9BV44	THUM3_HUMAN	THUMP domain containing 3	7						cytoplasm (GO:0005737)|nucleolus (GO:0005730)	methyltransferase activity (GO:0008168)|RNA binding (GO:0003723)			NS(1)|central_nervous_system(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	19	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.101)		ATTGAAGAAGCCACTAACCAA	0.408																																						ENST00000345094.3																			0				NS(1)|central_nervous_system(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	19						c.(19-21)gCc>gTc		THUMP domain containing 3							98	98	98					3																	9406772		2203	4300	6503	SO:0001583	missense	25917						methyltransferase activity|protein binding|RNA binding	g.chr3:9406772C>T	AL117483	CCDS2573.1	3p25.3	2004-06-04			ENSG00000134077	ENSG00000134077			24493	protein-coding gene	gene with protein product						12477932	Standard	NM_015453		Approved	DKFZP434F091	uc003brn.4	Q9BV44	OTTHUMG00000097031	ENST00000345094.3:c.20C>T	3.37:g.9406772C>T	ENSP00000339532:p.Ala7Val					THUMPD3_ENST00000515662.2_Missense_Mutation_p.A7V|THUMPD3_ENST00000452837.2_Missense_Mutation_p.A7V|SETD5-AS1_ENST00000468186.1_RNA	p.A7V	NM_001114092.1|NM_015453.2	NP_001107564.1|NP_056268.2	Q9BV44	THUM3_HUMAN		OV - Ovarian serous cystadenocarcinoma(96;0.101)	2	354	+	Medulloblastoma(99;0.227)		7					Q9H8V6|Q9NVC1|Q9UFS3	Missense_Mutation	SNP	ENST00000345094.3	37	c.20C>T	CCDS2573.1	.	.	.	.	.	.	.	.	.	.	C	15.90	2.970518	0.53614	.	.	ENSG00000134077	ENST00000452837;ENST00000417036;ENST00000419437;ENST00000345094;ENST00000515662	T;T;T	0.52983	0.64;0.64;0.64	5.57	5.57	0.84162	.	0.356801	0.28921	N	0.013706	T	0.32823	0.0842	L	0.27053	0.805	0.30965	N	0.723211	B	0.29909	0.261	B	0.21546	0.035	T	0.31668	-0.9935	10	0.33940	T	0.23	-2.9812	12.0968	0.53758	0.0:0.92:0.0:0.08	.	7	Q9BV44	THUM3_HUMAN	V	7	ENSP00000395893:A7V;ENSP00000339532:A7V;ENSP00000424064:A7V	ENSP00000339532:A7V	A	+	2	0	THUMPD3	9381772	0.989000	0.36119	0.985000	0.45067	0.623000	0.37688	2.837000	0.48191	2.785000	0.95823	0.655000	0.94253	GCC		0.408	THUMPD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214127.1	NM_015453		19	51	0	0	0	1	0	19	51					T	9406772	C	T	9406772	3	4	435	1	0	0	0	0	1	0	0	0	15881	739	26	3	22	3	THUMPD3	3	9406772	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	417829	9406772	188615658	1644	22569											
THUMPD3	25917	broad.mit.edu	37	chr3	9413002	9413002	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atccagccatcaaagaggatGtatcaacattaataggtgat	16	10	8	7	0	2	2	2	1	0	1	3	3	3	3	2	2	2	1	2	2	5	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:9413002G>A	ENST00000345094.3	+	4	923	c.589G>A	c.(589-591)Gta>Ata	p.V197I	THUMPD3_ENST00000452837.2_Missense_Mutation_p.V197I|SETD5-AS1_ENST00000468186.1_RNA|THUMPD3_ENST00000515662.2_Missense_Mutation_p.V197I	NM_001114092.1|NM_015453.2	NP_001107564.1|NP_056268.2	Q9BV44	THUM3_HUMAN	THUMP domain containing 3	197	THUMP. {ECO:0000255|PROSITE- ProRule:PRU00529}.					cytoplasm (GO:0005737)|nucleolus (GO:0005730)	methyltransferase activity (GO:0008168)|RNA binding (GO:0003723)			NS(1)|central_nervous_system(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	19	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.101)		CAAAGAGGATGTATCAACATT	0.353																																						ENST00000345094.3																			0				NS(1)|central_nervous_system(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	19						c.(589-591)Gta>Ata		THUMP domain containing 3							75	78	77					3																	9413002		2203	4300	6503	SO:0001583	missense	25917						methyltransferase activity|protein binding|RNA binding	g.chr3:9413002G>A	AL117483	CCDS2573.1	3p25.3	2004-06-04			ENSG00000134077	ENSG00000134077			24493	protein-coding gene	gene with protein product						12477932	Standard	NM_015453		Approved	DKFZP434F091	uc003brn.4	Q9BV44	OTTHUMG00000097031	ENST00000345094.3:c.589G>A	3.37:g.9413002G>A	ENSP00000339532:p.Val197Ile					THUMPD3_ENST00000515662.2_Missense_Mutation_p.V197I|THUMPD3_ENST00000452837.2_Missense_Mutation_p.V197I|SETD5-AS1_ENST00000468186.1_RNA	p.V197I	NM_001114092.1|NM_015453.2	NP_001107564.1|NP_056268.2	Q9BV44	THUM3_HUMAN		OV - Ovarian serous cystadenocarcinoma(96;0.101)	4	923	+	Medulloblastoma(99;0.227)		197			THUMP.		Q9H8V6|Q9NVC1|Q9UFS3	Missense_Mutation	SNP	ENST00000345094.3	37	c.589G>A	CCDS2573.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	G|G|G	2.646|2.646|2.646	-0.282969|-0.282969|-0.282969	0.05642|0.05642|0.05642	.|.|.	.|.|.	ENSG00000134077|ENSG00000134077|ENSG00000134077	ENST00000416603|ENST00000441127|ENST00000452837;ENST00000345094;ENST00000515662	.|.|T;T;T	.|.|0.41758	.|.|0.99;0.99;0.99	5.94|5.94|5.94	-5.41|-5.41|-5.41	0.02648|0.02648|0.02648	.|.|THUMP (2);	.|.|1.084970	.|.|0.06805	.|.|N	.|.|0.789314	T|T|T	0.20129|0.20129|0.20129	0.0484|0.0484|0.0484	N|N|N	0.02011|0.02011|0.02011	-0.69|-0.69|-0.69	0.09310|0.09310|0.09310	N|N|N	1|1|1	.|.|B	.|.|0.09022	.|.|0.002	.|.|B	.|.|0.06405	.|.|0.002	T|T|T	0.19128|0.19128|0.19128	-1.0315|-1.0315|-1.0315	5|5|10	.|.|0.33141	.|.|T	.|.|0.24	-19.9597|-19.9597|-19.9597	18.5175|18.5175|18.5175	0.90941|0.90941|0.90941	0.3044:0.0:0.6956:0.0|0.3044:0.0:0.6956:0.0|0.3044:0.0:0.6956:0.0	.|.|.	.|.|197	.|.|Q9BV44	.|.|THUM3_HUMAN	Y|I|I	29|53|197	.|.|ENSP00000395893:V197I;ENSP00000339532:V197I;ENSP00000424064:V197I	.|.|ENSP00000339532:V197I	C|M|V	+|+|+	2|3|1	0|0|0	THUMPD3|THUMPD3|THUMPD3	9388002|9388002|9388002	0.000000|0.000000|0.000000	0.05858|0.05858|0.05858	0.000000|0.000000|0.000000	0.03702|0.03702|0.03702	0.044000|0.044000|0.044000	0.14063|0.14063|0.14063	-0.524000|-0.524000|-0.524000	0.06222|0.06222|0.06222	-1.337000|-1.337000|-1.337000	0.02236|0.02236|0.02236	-0.367000|-0.367000|-0.367000	0.07326|0.07326|0.07326	TGT|ATG|GTA		0.353	THUMPD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214127.1	NM_015453		23	34	0	0	0	1	0	23	34					A	9413002	G	A	9413002	3	1	435	1	0	0	0	0	1	0	0	0	15881	1377	48	3	599	3	THUMPD3	3	9413002	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	6230	9413002	188609428	1645	22570											
SETD5	55209	broad.mit.edu	37	chr3	9476069	9476069	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgccgtcgcctgtagaggaaCgctgtggagacagcccgaac	9	6	14	12	4	0	2	0	0	0	2	1	5	0	3	3	2	4	2	3	2	3	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:9476069C>T	ENST00000406341.1	+	4	419	c.229C>T	c.(229-231)Cgc>Tgc	p.R77C	SETD5_ENST00000302463.6_5'UTR|SETD5_ENST00000402198.1_Missense_Mutation_p.R77C|SETD5_ENST00000407969.1_Missense_Mutation_p.R96C|SETD5_ENST00000402466.1_5'UTR			Q9C0A6	SETD5_HUMAN	SET domain containing 5	77			R -> H (in dbSNP:rs41387348).							NS(2)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(3)|prostate(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.112)		TGTAGAGGAACGCTGTGGAGA	0.567																																						ENST00000402198.1																			0				NS(2)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(3)|prostate(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						c.(229-231)Cgc>Tgc		SET domain containing 5							100	108	105					3																	9476069		1997	4159	6156	SO:0001583	missense	55209							g.chr3:9476069C>T	BC020956	CCDS46741.1, CCDS74892.1	3p25.3	2011-12-13			ENSG00000168137	ENSG00000168137			25566	protein-coding gene	gene with protein product		615743				11214970	Standard	XM_005265299		Approved	FLJ10707	uc003brt.3	Q9C0A6	OTTHUMG00000150491	ENST00000406341.1:c.229C>T	3.37:g.9476069C>T	ENSP00000383939:p.Arg77Cys					SETD5_ENST00000406341.1_Missense_Mutation_p.R77C|SETD5_ENST00000302463.6_5'UTR|SETD5_ENST00000407969.1_Missense_Mutation_p.R96C|SETD5_ENST00000402466.1_5'UTR	p.R77C	NM_001080517.1	NP_001073986.1	Q9C0A6	SETD5_HUMAN		OV - Ovarian serous cystadenocarcinoma(96;0.112)	5	664	+	Medulloblastoma(99;0.227)		77		R -> H (in dbSNP:rs41387348).			Q6AI17|Q8WUB6|Q9H3X4|Q9H6V7|Q9H7S3|Q9NVI9	Missense_Mutation	SNP	ENST00000406341.1	37	c.229C>T	CCDS46741.1	.	.	.	.	.	.	.	.	.	.	C	14.40	2.523158	0.44866	.	.	ENSG00000168137	ENST00000450326;ENST00000402198;ENST00000406341;ENST00000407969	T;D;D;D	0.91068	1.44;-2.78;-2.78;-2.67	5.69	4.75	0.60458	.	.	.	.	.	D	0.85431	0.5695	N	0.22421	0.69	0.80722	D	1	D;D	0.60575	0.988;0.981	B;P	0.46339	0.353;0.513	D	0.86309	0.1685	9	0.66056	D	0.02	-1.9683	11.1594	0.48507	0.3842:0.6158:0.0:0.0	.	77;96	Q9C0A6;E7EWN3	SETD5_HUMAN;.	C	77;77;77;96	ENSP00000413786:R77C;ENSP00000385852:R77C;ENSP00000383939:R77C;ENSP00000384114:R96C	ENSP00000385852:R77C	R	+	1	0	SETD5	9451069	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.991000	0.56973	2.679000	0.91253	0.591000	0.81541	CGC		0.567	SETD5-001	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318425.1	XM_371614		10	24	0	0	0	1	0	10	24					T	9476069	C	T	9476069	3	4	435	1	0	0	0	0	1	0	0	0	14134	536	19	1	239	1	SETD5	3	9476069	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	63067	9476069	188546361	1646	22571											
SETD5	55209	broad.mit.edu	37	chr3	9515129	9515129	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aaattctccccatctcattcCtctatgtcccatttggaggc	8	14	5	14	0	3	0	1	0	3	0	7	1	5	1	4	2	0	0	4	2	2	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:9515129C>A	ENST00000406341.1	+	19	3595	c.3405C>A	c.(3403-3405)tcC>tcA	p.S1135S	SETD5_ENST00000302463.6_Silent_p.S1037S|SETD5_ENST00000402198.1_Silent_p.S1135S|SETD5_ENST00000407969.1_Silent_p.S1154S|SETD5_ENST00000402466.1_Silent_p.S1037S			Q9C0A6	SETD5_HUMAN	SET domain containing 5	1135	Ser-rich.									NS(2)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(3)|prostate(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.112)		CATCTCATTCCTCTATGTCCC	0.507																																						ENST00000402466.1																			0				NS(2)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(3)|prostate(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						c.(3109-3111)tcC>tcA		SET domain containing 5							79	78	79					3																	9515129		1914	4141	6055	SO:0001819	synonymous_variant	55209							g.chr3:9515129C>A	BC020956	CCDS46741.1, CCDS74892.1	3p25.3	2011-12-13			ENSG00000168137	ENSG00000168137			25566	protein-coding gene	gene with protein product		615743				11214970	Standard	XM_005265299		Approved	FLJ10707	uc003brt.3	Q9C0A6	OTTHUMG00000150491	ENST00000406341.1:c.3405C>A	3.37:g.9515129C>A						SETD5_ENST00000406341.1_Silent_p.S1135S|SETD5_ENST00000302463.6_Silent_p.S1037S|SETD5_ENST00000407969.1_Silent_p.S1154S|SETD5_ENST00000402198.1_Silent_p.S1135S	p.S1037S			Q9C0A6	SETD5_HUMAN		OV - Ovarian serous cystadenocarcinoma(96;0.112)	21	3879	+	Medulloblastoma(99;0.227)		1135					Q6AI17|Q8WUB6|Q9H3X4|Q9H6V7|Q9H7S3|Q9NVI9	Silent	SNP	ENST00000406341.1	37	c.3111C>A	CCDS46741.1	.	.	.	.	.	.	.	.	.	.	C	10.12	1.264191	0.23136	.	.	ENSG00000168137	ENST00000399686	.	.	.	6.07	4.3	0.51218	.	.	.	.	.	T	0.62889	0.2465	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.59783	-0.7389	4	.	.	.	-11.4804	11.5873	0.50925	0.0:0.8042:0.0:0.1958	.	.	.	.	I	803	.	.	L	+	1	0	SETD5	9490129	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	0.601000	0.24119	0.916000	0.36871	-0.225000	0.12378	CTC		0.507	SETD5-001	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318425.1	XM_371614		5	11	1	0	0.184627	1	0.185007	5	11					A	9515129	C	A	9515129	2	1	435	1	0	0	0	0	0	0	0	1	14134	668	24	5		5	SETD5	3	9515129	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	39060	9515129	188507301	1647	22572											
MTMR14	64419	broad.mit.edu	37	chr3	9739506	9739506	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgtcctgcacacagactcCtctctccctttcagcttccc	5	12	5	19	0	2	1	1	0	1	1	7	1	6	1	4	0	2	3	4	0	0	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:9739506C>A	ENST00000296003.4	+	18	1847	c.1725C>A	c.(1723-1725)tcC>tcA	p.S575S	MTMR14_ENST00000353332.5_Intron|MTMR14_ENST00000351233.5_Intron|MTMR14_ENST00000420925.1_Intron	NM_001077525.2	NP_001070993.1	Q8NCE2	MTMRE_HUMAN	myotubularin related protein 14	575					phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|perinuclear region of cytoplasm (GO:0048471)|ruffle (GO:0001726)	phosphatidylinositol-3-phosphatase activity (GO:0004438)|protein tyrosine phosphatase activity (GO:0004725)			breast(1)|endometrium(3)|kidney(2)|lung(10)|skin(3)|upper_aerodigestive_tract(2)	21	Medulloblastoma(99;0.227)					ACACAGACTCCTCTCTCCCTT	0.572																																						ENST00000296003.4																			0				breast(1)|endometrium(3)|kidney(2)|lung(10)|skin(3)|upper_aerodigestive_tract(2)	21						c.(1723-1725)tcC>tcA		myotubularin related protein 14							229	238	235					3																	9739506		2060	4201	6261	SO:0001819	synonymous_variant	64419					perinuclear region of cytoplasm|ruffle	phosphatidylinositol-3-phosphatase activity|protein tyrosine phosphatase activity	g.chr3:9739506C>A	BC001674	CCDS43043.1, CCDS43044.1, CCDS43045.1	3p26	2011-06-09	2006-12-18	2006-12-18	ENSG00000163719	ENSG00000163719		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"	26190	protein-coding gene	gene with protein product	"egg-derived tyrosine phosphatase homolog (Drosophila)"	611089	"chromosome 3 open reading frame 29"	C3orf29		15186772	Standard	NM_022485		Approved	FLJ22405, FLJ90311, hJumpy, hEDTP	uc003brz.3	Q8NCE2	OTTHUMG00000155111	ENST00000296003.4:c.1725C>A	3.37:g.9739506C>A						MTMR14_ENST00000353332.5_Intron|MTMR14_ENST00000420925.1_Intron|MTMR14_ENST00000351233.5_Intron	p.S575S	NM_001077525.2	NP_001070993.1	Q8NCE2	MTMRE_HUMAN			18	1847	+	Medulloblastoma(99;0.227)		575					Q0JTH5|Q0JU83|Q6PIZ4|Q6QE21|Q86VK9|Q8IYK1|Q8TCM7|Q9H6C0	Silent	SNP	ENST00000296003.4	37	c.1725C>A	CCDS43043.1																																																																																				0.572	MTMR14-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000338435.1	NM_022485		103	135	1	0	2.41565e-62	1	2.71757e-62	103	135					A	9739506	C	A	9739506	2	1	435	1	0	0	0	0	0	0	0	1	9942	668	24	5		5	MTMR14	3	9739506	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	224377	9739506	188282924	1648	22573											
CPNE9	151835	broad.mit.edu	37	chr3	9760187	9760187	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgatgaggaccccaactgtgCgggcatcgagggtgtgctgg	7	8	17	9	2	0	2	0	2	0	0	1	4	0	3	2	4	3	2	2	4	1	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:9760187C>T	ENST00000383832.3	+	17	1332	c.1142C>T	c.(1141-1143)gCg>gTg	p.A381V	CPNE9_ENST00000383831.3_Missense_Mutation_p.A381V	NM_153635.2	NP_705899.2	Q8IYJ1	CPNE9_HUMAN	copine family member IX	381	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.					extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	16	Medulloblastoma(99;0.227)					CCCAACTGTGCGGGCATCGAG	0.562																																						ENST00000383832.3																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	16						c.(1141-1143)gCg>gTg		copine family member IX							82	82	82					3																	9760187		2020	4176	6196	SO:0001583	missense	151835							g.chr3:9760187C>T		CCDS2574.2	3p25.3	2008-10-30			ENSG00000144550	ENSG00000144550			24336	protein-coding gene	gene with protein product						9430674	Standard	XM_006712990		Approved	KIAA4217	uc003bsd.3	Q8IYJ1	OTTHUMG00000128418	ENST00000383832.3:c.1142C>T	3.37:g.9760187C>T	ENSP00000373343:p.Ala381Val					CPNE9_ENST00000383831.3_Missense_Mutation_p.A381V	p.A381V	NM_153635.2	NP_705899.2	Q8IYJ1	CPNE9_HUMAN			17	1332	+	Medulloblastoma(99;0.227)		381			VWFA.		A1L430|A6NDX6|A8MSP8	Missense_Mutation	SNP	ENST00000383832.3	37	c.1142C>T	CCDS2574.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	9.064|9.064	0.995117|0.995117	0.19043|0.19043	.|.	.|.	ENSG00000144550|ENSG00000144550	ENST00000383832;ENST00000383831|ENST00000273027	T;T|.	0.22134|.	1.97;1.97|.	5.44|5.44	1.41|1.41	0.22369|0.22369	von Willebrand factor, type A (2);Copine (1);|.	0.260679|.	0.37348|.	N|.	0.002128|.	T|T	0.14527|0.14527	0.0351|0.0351	N|N	0.04724|0.04724	-0.175|-0.175	0.21675|0.21675	N|N	0.999592|0.999592	B|.	0.10296|.	0.003|.	B|.	0.10450|.	0.005|.	T|T	0.26326|0.26326	-1.0106|-1.0106	10|5	0.14656|.	T|.	0.56|.	.|.	4.3896|4.3896	0.11334|0.11334	0.3699:0.4128:0.0:0.2174|0.3699:0.4128:0.0:0.2174	.|.	381|.	Q8IYJ1|.	CPNE9_HUMAN|.	V|W	381|113	ENSP00000373343:A381V;ENSP00000373342:A381V|.	ENSP00000373342:A381V|.	A|R	+|+	2|1	0|2	CPNE9|CPNE9	9735187|9735187	0.000000|0.000000	0.05858|0.05858	0.928000|0.928000	0.36995|0.36995	0.977000|0.977000	0.68977|0.68977	-0.157000|-0.157000	0.10085|0.10085	0.262000|0.262000	0.21774|0.21774	-1.101000|-1.101000	0.02118|0.02118	GCG|CGG		0.562	CPNE9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250205.4	NM_001033755		19	27	0	0	0	1	0	19	27					T	9760187	C	T	9760187	3	4	435	1	0	0	0	0	1	0	0	0	3819	768	27	1	1204	1	CPNE9	3	9760187	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	20681	9760187	188262243	1649	22574											
BRPF1	7862	broad.mit.edu	37	chr3	9776113	9776113	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgagctatgcacaggcccagCgcatggtggaggtggacttg	8	8	16	9	1	0	1	0	1	0	0	0	3	0	3	1	5	3	3	1	5	1	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:9776113C>T	ENST00000457855.1	+	1	300	c.289C>T	c.(289-291)Cgc>Tgc	p.R97C	BRPF1_ENST00000424362.1_Missense_Mutation_p.R97C|BRPF1_ENST00000383829.2_Missense_Mutation_p.R97C|BRPF1_ENST00000302054.3_Missense_Mutation_p.R97C|BRPF1_ENST00000433861.2_Missense_Mutation_p.R97C			P55201	BRPF1_HUMAN	bromodomain and PHD finger containing, 1	97	Interaction with KAT6A and KAT6B.				chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	49	Medulloblastoma(99;0.227)					ACAGGCCCAGCGCATGGTGGA	0.627																																						ENST00000383829.2																			0				central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	49						c.(289-291)Cgc>Tgc		bromodomain and PHD finger containing, 1							127	133	131					3																	9776113		2203	4300	6503	SO:0001583	missense	7862				histone H3 acetylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|MOZ/MORF histone acetyltransferase complex|plasma membrane	DNA binding|zinc ion binding	g.chr3:9776113C>T	M91585	CCDS2575.1, CCDS33692.1	3p26-p25	2008-07-18			ENSG00000156983	ENSG00000156983			14255	protein-coding gene	gene with protein product	"peregrin", "bromodomain-containing protein, 140kD"	602410				8946209, 7906940	Standard	NM_001003694		Approved	BR140	uc003bsf.3	P55201	OTTHUMG00000097033	ENST00000457855.1:c.289C>T	3.37:g.9776113C>T	ENSP00000410210:p.Arg97Cys					BRPF1_ENST00000457855.1_Missense_Mutation_p.R97C|BRPF1_ENST00000433861.2_Missense_Mutation_p.R97C|BRPF1_ENST00000302054.3_Missense_Mutation_p.R97C|BRPF1_ENST00000424362.1_Missense_Mutation_p.R97C	p.R97C	NM_001003694.1	NP_001003694.1	P55201	BRPF1_HUMAN			2	693	+	Medulloblastoma(99;0.227)		97			Interaction with MYST3 and MYST4.		B4DEZ6|Q7Z6E0|Q8TCM6|Q9UHI0	Missense_Mutation	SNP	ENST00000457855.1	37	c.289C>T	CCDS2575.1	.	.	.	.	.	.	.	.	.	.	C	15.79	2.937860	0.52972	.	.	ENSG00000156983	ENST00000433861;ENST00000424362;ENST00000383829;ENST00000302054;ENST00000420291;ENST00000426583;ENST00000457855	T;T;T;T;T;T	0.55930	1.98;1.97;3.36;1.97;0.49;1.97	5.73	5.73	0.89815	.	0.046766	0.85682	D	0.000000	T	0.71995	0.3406	M	0.76838	2.35	0.80722	D	1	D;P;P;D	0.89917	1.0;0.705;0.705;0.999	D;B;B;D	0.72338	0.977;0.118;0.363;0.915	T	0.73310	-0.4023	10	0.52906	T	0.07	.	14.3475	0.66678	0.1483:0.8517:0.0:0.0	.	97;97;97;97	P55201-4;P55201-3;P55201-2;P55201	.;.;.;BRPF1_HUMAN	C	97	ENSP00000402485:R97C;ENSP00000398863:R97C;ENSP00000373340:R97C;ENSP00000306297:R97C;ENSP00000404235:R97C;ENSP00000410210:R97C	ENSP00000306297:R97C	R	+	1	0	BRPF1	9751113	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.833000	0.48159	2.709000	0.92574	0.563000	0.77884	CGC		0.627	BRPF1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000338485.1	NM_001003694		16	30	0	0	0	1	0	16	30					T	9776113	C	T	9776113	3	4	435	1	0	0	0	0	1	0	0	0	1520	768	27	1	291	1	BRPF1	3	9776113	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	15926	9776113	188246317	1650	22575											
OGG1	4968	broad.mit.edu	37	chr3	9796443	9796443	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctgggctatcgtgcccgttaCgtgagtgccagtgcccgagc	5	9	14	13	4	0	1	0	1	0	0	1	2	0	1	3	1	5	2	3	1	2	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:9796443C>T	ENST00000344629.7	+	4	964	c.621C>T	c.(619-621)taC>taT	p.Y207Y	OGG1_ENST00000449570.2_Silent_p.Y207Y|OGG1_ENST00000349503.5_Silent_p.Y207Y|OGG1_ENST00000302008.8_Silent_p.Y207Y|OGG1_ENST00000302003.7_Silent_p.Y207Y|OGG1_ENST00000302036.7_Silent_p.Y207Y|OGG1_ENST00000383826.5_Intron|OGG1_ENST00000339511.5_Silent_p.Y207Y			O15527	OGG1_HUMAN	8-oxoguanine DNA glycosylase	207					acute inflammatory response (GO:0002526)|base-excision repair (GO:0006284)|base-excision repair, AP site formation (GO:0006285)|cellular response to cadmium ion (GO:0071276)|depurination (GO:0045007)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleotide-excision repair (GO:0006289)|regulation of protein import into nucleus, translocation (GO:0033158)|regulation of transcription, DNA-templated (GO:0006355)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to folic acid (GO:0051593)|response to oxidative stress (GO:0006979)|response to radiation (GO:0009314)	mitochondrion (GO:0005739)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	8-oxo-7,8-dihydroguanine DNA N-glycosylase activity (GO:0034039)|damaged DNA binding (GO:0003684)|endonuclease activity (GO:0004519)|oxidized purine nucleobase lesion DNA N-glycosylase activity (GO:0008534)			kidney(2)|large_intestine(2)|lung(2)|skin(1)|urinary_tract(1)	8	Medulloblastoma(99;0.227)					GTGCCCGTTACGTGAGTGCCA	0.622								Base excision repair (BER), DNA glycosylases																														ENST00000302036.7																			0				kidney(2)|large_intestine(2)|lung(2)|skin(1)|urinary_tract(1)	8						c.(619-621)taC>taT	Base excision repair (BER), DNA glycosylases	8-oxoguanine DNA glycosylase							52	42	45					3																	9796443		2203	4300	6503	SO:0001819	synonymous_variant	4968				depurination|nucleotide-excision repair|regulation of protein import into nucleus, translocation|regulation of transcription, DNA-dependent|response to oxidative stress|response to radiation	mitochondrion|nuclear matrix|nuclear speck	damaged DNA binding|endonuclease activity|oxidized purine base lesion DNA N-glycosylase activity|protein binding	g.chr3:9796443C>T	U96710	CCDS2576.1, CCDS2577.1, CCDS2578.1, CCDS2579.1, CCDS2580.1, CCDS2581.1, CCDS43046.1, CCDS46742.1	3p26	2010-11-23			ENSG00000114026	ENSG00000114026	3.2.2.-, 4.2.99.18		8125	protein-coding gene	gene with protein product	"8-hydroxyguanine DNA glycosylase", "OGG1 type 1e", "OGG1 type 1d", "OGG1 type 1g", "OGG1 type 1h"	601982				9207108, 10449904	Standard	NM_002542		Approved	HMMH, HOGG1, OGH1, MUTM	uc003bsj.3	O15527	OTTHUMG00000097091	ENST00000344629.7:c.621C>T	3.37:g.9796443C>T						OGG1_ENST00000349503.5_Silent_p.Y207Y|OGG1_ENST00000383826.5_Intron|OGG1_ENST00000302008.8_Silent_p.Y207Y|OGG1_ENST00000302003.7_Silent_p.Y207Y|OGG1_ENST00000449570.2_Silent_p.Y207Y|OGG1_ENST00000344629.7_Silent_p.Y207Y|OGG1_ENST00000339511.5_Silent_p.Y207Y	p.Y207Y	NM_016821.2	NP_058214.1	O15527	OGG1_HUMAN			4	964	+	Medulloblastoma(99;0.227)		207					A8K1E3|O00390|O00670|O00705|O14876|O95488|P78554|Q9BW42|Q9UIK0|Q9UIK1|Q9UIK2|Q9UL34|Q9Y2C0|Q9Y2C1|Q9Y6C3|Q9Y6C4	Silent	SNP	ENST00000344629.7	37	c.621C>T	CCDS2581.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	6.453|6.453	0.451682|0.451682	0.12223|0.12223	.|.	.|.	ENSG00000114026|ENSG00000114026	ENST00000352937|ENST00000441094	.|.	.|.	.|.	5.78|5.78	-3.71|-3.71	0.04424|0.04424	.|.	.|.	.|.	.|.	.|.	T|T	0.64011|0.64011	0.2560|0.2560	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.63834|0.63834	-0.6547|-0.6547	4|4	.|.	.|.	.|.	-17.0356|-17.0356	14.7973|14.7973	0.69886|0.69886	0.0:0.2404:0.0:0.7596|0.0:0.2404:0.0:0.7596	.|.	.|.	.|.	.|.	C|M	113|105	.|.	.|.	R|T	+|+	1|2	0|0	OGG1|OGG1	9771443|9771443	0.100000|0.100000	0.21855|0.21855	0.942000|0.942000	0.38095|0.38095	0.554000|0.554000	0.35429|0.35429	-0.531000|-0.531000	0.06171|0.06171	-0.627000|-0.627000	0.05589|0.05589	-0.966000|-0.966000	0.02617|0.02617	CGT|ACG		0.622	OGG1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214223.2	NM_016821		8	14	0	0	0	1	0	8	14					T	9796443	C	T	9796443	2	4	435	1	0	0	0	0	0	0	0	1	10845	547	19	1		1	OGG1	3	9796443	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	20330	9796443	188225987	1651	22576											
CAMK1	8536	broad.mit.edu	37	chr3	9804696	9804696	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcccgctccgtgtagaagcCtttttccacaatacggtcaa	9	11	8	13	3	1	1	1	0	0	1	4	1	4	1	4	1	2	2	4	1	5	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:9804696C>A	ENST00000256460.3	-	5	508	c.331G>T	c.(331-333)Ggc>Tgc	p.G111C	OGG1_ENST00000449570.2_Intron|OGG1_ENST00000349503.5_Intron|OGG1_ENST00000302008.8_Intron|OGG1_ENST00000302036.7_Intron|OGG1_ENST00000383826.5_Intron	NM_003656.4	NP_003647.1	Q14012	KCC1A_HUMAN	calcium/calmodulin-dependent protein kinase I	111	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell cycle (GO:0007049)|nucleocytoplasmic transport (GO:0006913)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of synapse structural plasticity (GO:0051835)|protein phosphorylation (GO:0006468)|regulation of muscle cell differentiation (GO:0051147)|regulation of protein binding (GO:0043393)|regulation of protein localization (GO:0032880)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)			endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1)	12	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.0475)		GTGTAGAAGCCTTTTTCCACA	0.587																																						ENST00000256460.3																			0				endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1)	12						c.(331-333)Ggc>Tgc		calcium/calmodulin-dependent protein kinase I							57	53	54					3																	9804696		2203	4300	6503	SO:0001583	missense	8536				cell differentiation|nervous system development|positive regulation of muscle cell differentiation|signal transduction	cytoplasm|nucleus	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity	g.chr3:9804696C>A	L41816	CCDS2582.1	3p25.3	2004-02-27			ENSG00000134072	ENSG00000134072			1459	protein-coding gene	gene with protein product		604998				7641687	Standard	NM_003656		Approved	CaMKI	uc003bst.3	Q14012	OTTHUMG00000128419	ENST00000256460.3:c.331G>T	3.37:g.9804696C>A	ENSP00000256460:p.Gly111Cys					OGG1_ENST00000349503.5_Intron|OGG1_ENST00000383826.5_Intron|OGG1_ENST00000302008.8_Intron|OGG1_ENST00000449570.2_Intron|OGG1_ENST00000302036.7_Intron	p.G111C	NM_003656.4	NP_003647.1	Q14012	KCC1A_HUMAN		OV - Ovarian serous cystadenocarcinoma(96;0.0475)	5	508	-	Medulloblastoma(99;0.227)		111			Protein kinase.		Q3KPF6	Missense_Mutation	SNP	ENST00000256460.3	37	c.331G>T	CCDS2582.1	.	.	.	.	.	.	.	.	.	.	C	27.1	4.796357	0.90453	.	.	ENSG00000134072	ENST00000256460;ENST00000411972	T;T	0.68624	0.82;-0.34	5.07	5.07	0.68467	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.84170	0.5413	M	0.86097	2.795	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.87080	0.2165	10	0.87932	D	0	-23.5665	18.4587	0.90731	0.0:1.0:0.0:0.0	.	111	Q14012	KCC1A_HUMAN	C	111;67	ENSP00000256460:G111C;ENSP00000404587:G67C	ENSP00000256460:G111C	G	-	1	0	CAMK1	9779696	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	7.775000	0.85489	2.357000	0.79964	0.462000	0.41574	GGC		0.587	CAMK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250206.1	NM_003656		10	11	1	0	1.76689e-08	1	1.86465e-08	10	11					A	9804696	C	A	9804696	3	1	435	1	0	0	0	0	1	0	0	0	2596	681	24	5	813	5	CAMK1	3	9804696	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	8253	9804696	188217734	1652	22577											
TTLL3	26140	broad.mit.edu	37	chr3	9868895	9868895	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agctatatccgcttttccacGcagcccttctccctgaagaa	9	11	6	15	2	1	2	0	1	1	1	4	2	3	2	4	0	2	3	4	0	4	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:9868895G>A	ENST00000547186.1	+	9	1305	c.1089G>A	c.(1087-1089)acG>acA	p.T363T	ARPC4-TTLL3_ENST00000397256.1_Silent_p.T424T|TTLL3_ENST00000466245.1_Intron|TTLL3_ENST00000426895.4_Silent_p.T506T|TTLL3_ENST00000427853.3_Silent_p.T151T|TTLL3_ENST00000383827.1_Silent_p.T151T|TTLL3_ENST00000455274.1_Silent_p.T151T|TTLL3_ENST00000397241.1_Silent_p.T151T|TTLL3_ENST00000430793.1_Silent_p.T151T	NM_001025930.3	NP_001021100.3	Q9Y4R7	TTLL3_HUMAN	tubulin tyrosine ligase-like family, member 3	363	TTL. {ECO:0000255|PROSITE- ProRule:PRU00568}.				axoneme assembly (GO:0035082)|cilium assembly (GO:0042384)|protein polyglycylation (GO:0018094)	axoneme (GO:0005930)|cilium (GO:0005929)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)	protein-glycine ligase activity (GO:0070735)|protein-glycine ligase activity, initiating (GO:0070736)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(2)|skin(1)	26	Medulloblastoma(99;0.227)					GCTTTTCCACGCAGCCCTTCT	0.562																																						ENST00000383827.1																			0				central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(2)|skin(1)	26						c.(451-453)acG>acA		tubulin tyrosine ligase-like family, member 3							102	91	95					3																	9868895		2203	4300	6503	SO:0001819	synonymous_variant	26140				axoneme assembly|cilium assembly|protein polyglycylation	cilium axoneme|cytoplasm|microtubule	protein-glycine ligase activity, initiating|tubulin-tyrosine ligase activity	g.chr3:9868895G>A		CCDS43048.1, CCDS43048.2	3p25.3	2013-02-14			ENSG00000214021	ENSG00000214021		"Tubulin tyrosine ligase-like family"	24483	protein-coding gene	gene with protein product						11054573	Standard	NR_037162		Approved	DKFZP434B103, HOTTL	uc003btg.4	Q9Y4R7	OTTHUMG00000128439	ENST00000547186.1:c.1089G>A	3.37:g.9868895G>A						TTLL3_ENST00000455274.1_Silent_p.T151T|TTLL3_ENST00000547186.1_Silent_p.T363T|ARPC4-TTLL3_ENST00000397256.1_Silent_p.T424T|TTLL3_ENST00000466245.1_Intron|TTLL3_ENST00000397241.1_Silent_p.T151T|TTLL3_ENST00000427853.3_Silent_p.T151T|TTLL3_ENST00000426895.4_Silent_p.T506T|TTLL3_ENST00000430793.1_Silent_p.T151T	p.T151T			Q9Y4R7	TTLL3_HUMAN			3	2734	+	Medulloblastoma(99;0.227)		363			TTL.		Q4KMS8|Q6AWA3|Q6ZU95|Q8NDN8|Q96GG8|Q9H876|Q9UI99	Silent	SNP	ENST00000547186.1	37	c.453G>A		.	.	.	.	.	.	.	.	.	.	G	7.365	0.625543	0.14257	.	.	ENSG00000214021	ENST00000310252	.	.	.	5.09	-10.2	0.00374	.	.	.	.	.	T	0.44829	0.1312	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.55049	-0.8201	4	.	.	.	.	8.2289	0.31587	0.1491:0.2394:0.5312:0.0803	.	.	.	.	T	319	.	.	A	+	1	0	TTLL3	9843895	0.000000	0.05858	0.875000	0.34327	0.840000	0.47671	-5.090000	0.00152	-1.493000	0.01835	-1.298000	0.01336	GCA		0.562	TTLL3-203	KNOWN	basic	protein_coding	protein_coding		NM_001025930.2		7	39	0	0	0	1	0	7	39					A	9868895	G	A	9868895	2	1	435	1	0	0	0	0	0	0	0	1	16725	1074	38	1		1	TTLL3	3	9868895	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	64199	9868895	188153535	1653	22578											
RPUSD3	285367	broad.mit.edu	37	chr3	9879810	9879810	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggtgcctgggagaaggagccGatgtaggtggaggtgcaagg	9	6	21	5	1	0	1	0	0	0	1	0	5	0	3	2	7	3	2	2	7	3	1	rs115670492		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:9879810G>A	ENST00000383820.5	-	9	947	c.946C>T	c.(946-948)Cgg>Tgg	p.R316W	RPUSD3_ENST00000424438.1_3'UTR|RPUSD3_ENST00000433535.2_Missense_Mutation_p.R301W|TTLL3_ENST00000455274.1_Intron	NM_173659.3	NP_775930.2	Q6P087	RUSD3_HUMAN	RNA pseudouridylate synthase domain containing 3	316					pseudouridine synthesis (GO:0001522)		poly(A) RNA binding (GO:0044822)|pseudouridine synthase activity (GO:0009982)			central_nervous_system(2)|endometrium(3)|lung(2)	7	Medulloblastoma(99;0.227)					AGAAGGAGCCGATGTAGGTGG	0.662													G|||	1	0.000199681	8e-04	0	5008	,	,		17860	0		0	False		,,,				2504	0					ENST00000383820.5																			0				central_nervous_system(2)|endometrium(3)|lung(2)	7						c.(946-948)Cgg>Tgg		RNA pseudouridylate synthase domain containing 3		G	TRP/ARG,TRP/ARG	0,4406		0,0,2203	43	44	44		901,946	-0.6	0	3	dbSNP_132	44	1,8599	1.2+/-3.3	0,1,4299	yes	missense,missense	RPUSD3	NM_001142547.1,NM_173659.3	101,101	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging	301/337,316/352	9879810	1,13005	2203	4300	6503	SO:0001583	missense	285367				pseudouridine synthesis		pseudouridine synthase activity|RNA binding	g.chr3:9879810G>A	BC032135	CCDS2586.2, CCDS46744.1	3p25.3	2013-02-11			ENSG00000156990	ENSG00000156990		"RNA pseudouridylate synthase domain containing"	28437	protein-coding gene	gene with protein product						12477932	Standard	NM_173659		Approved	MGC29784	uc011atk.2	Q6P087	OTTHUMG00000128441	ENST00000383820.5:c.946C>T	3.37:g.9879810G>A	ENSP00000373331:p.Arg316Trp					TTLL3_ENST00000455274.1_Intron|RPUSD3_ENST00000433535.2_Missense_Mutation_p.R301W|RPUSD3_ENST00000424438.1_3'UTR	p.R316W	NM_173659.3	NP_775930.2	Q6P087	RUSD3_HUMAN			9	947	-	Medulloblastoma(99;0.227)		316					B4DS39|Q6P6A9|Q8N1B2|Q8NAV3	Missense_Mutation	SNP	ENST00000383820.5	37	c.946C>T	CCDS2586.2	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	12.51	1.961141	0.34565	0.0	1.16E-4	ENSG00000156990	ENST00000433535;ENST00000383820	T;T	0.23348	1.91;1.91	5.11	-0.572	0.11745	Pseudouridine synthase, catalytic domain (1);	1.175340	0.05876	N	0.625475	T	0.25644	0.0624	L	0.52364	1.645	0.09310	N	0.999998	B;B	0.18741	0.03;0.023	B;B	0.12156	0.007;0.003	T	0.38265	-0.9669	10	0.72032	D	0.01	.	9.496	0.38989	0.1753:0.0961:0.7286:0.0	.	301;316	Q6P087-2;Q6P087	.;RUSD3_HUMAN	W	301;316	ENSP00000398921:R301W;ENSP00000373331:R316W	ENSP00000373331:R316W	R	-	1	2	RPUSD3	9854810	0.000000	0.05858	0.000000	0.03702	0.903000	0.53119	-0.601000	0.05687	-0.533000	0.06323	-0.266000	0.10368	CGG		0.662	RPUSD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250238.1	NM_173659		15	17	0	0	0	1	0	15	17					A	9879810	G	A	9879810	3	1	435	1	0	0	0	0	1	0	0	0	13668	1057	37	2	113	2	RPUSD3	3	9879810	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	10915	9879810	188142620	1654	22579											
C3orf24	115795	broad.mit.edu	37	chr3	10146209	10146209	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttcctgaccagtcctttgtTgttcatcgtgcgcaactctg	5	15	8	13	2	2	1	1	1	1	0	5	1	4	1	3	0	2	3	3	0	1	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:10146209T>C	ENST00000450660.2	-	2	466	c.250A>G	c.(250-252)Aac>Gac	p.N84D	FANCD2OS_ENST00000524279.1_Missense_Mutation_p.N84D	NM_001164839.1	NP_001158311.1	Q96PS1	FACOS_HUMAN	FANCD2 opposite strand	84																	AGTCCTTTGTTGTTCATCGTG	0.542																																						ENST00000450660.2																			0											c.(250-252)Aac>Gac		FANCD2 opposite strand							123	113	117					3																	10146209		2203	4300	6503	SO:0001583	missense	115795							g.chr3:10146209T>C	AF230334	CCDS2596.1	3p25.3	2012-11-12	2012-11-12	2012-11-12	ENSG00000163705	ENSG00000163705			28623	protein-coding gene	gene with protein product			"chromosome 3 open reading frame 24"	C3orf24		12477932	Standard	NM_001164839		Approved	MGC40179	uc003buz.3	Q96PS1	OTTHUMG00000128669	ENST00000450660.2:c.250A>G	3.37:g.10146209T>C	ENSP00000429608:p.Asn84Asp					FANCD2OS_ENST00000524279.1_Missense_Mutation_p.N84D	p.N84D	NM_001164839.1	NP_001158311.1					2	466	-									Missense_Mutation	SNP	ENST00000450660.2	37	c.250A>G	CCDS2596.1	.	.	.	.	.	.	.	.	.	.	T	5.020	0.189427	0.09547	.	.	ENSG00000163705	ENST00000524279;ENST00000450660	.	.	.	5.62	0.0145	0.14100	.	0.774949	0.11867	N	0.521772	T	0.14056	0.0340	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.19943	-1.0290	9	0.28530	T	0.3	.	1.0828	0.01646	0.147:0.202:0.1523:0.4986	.	84	Q96PS1	CC024_HUMAN	D	84	.	ENSP00000429608:N84D	N	-	1	0	C3orf24	10121209	0.015000	0.18098	0.029000	0.17559	0.751000	0.42716	0.661000	0.25023	0.001000	0.14605	0.456000	0.33151	AAC		0.542	FANCD2OS-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339891.2	NM_173472		37	28	0	0	0	1	0	37	28					C	10146209	T	C	10146209	3	2	435	1	0	0	0	0	1	0	0	0	2217	1812	63	4	287	4	C3orf24	3	10146209	Missense_Mutation	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	266399	10146209	187876221	1655	22580											
VHL	7428	broad.mit.edu	37	chr3	10191469	10191469	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatttggtttttgcccttccAgtgtatactctgaaagagcg	8	15	10	8	1	1	2	0	1	1	1	2	3	2	2	2	1	3	2	2	1	3	6	rs5030816		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:10191469A>G	ENST00000256474.2	+	3	1303		c.e3-1		VHL_ENST00000345392.2_Splice_Site|VHL_ENST00000477538.1_Splice_Site	NM_000551.3	NP_000542.1	P40337	VHL_HUMAN	von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase						cell morphogenesis (GO:0000902)|cellular response to hypoxia (GO:0071456)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061428)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|transcription factor binding (GO:0008134)|ubiquitin protein ligase activity (GO:0061630)|ubiquitin-protein transferase activity (GO:0004842)	p.?(8)		adrenal_gland(25)|autonomic_ganglia(3)|central_nervous_system(2)|endometrium(6)|kidney(1662)|large_intestine(14)|lung(6)|pancreas(18)|paratesticular_tissues(1)|pleura(1)|skin(1)|soft_tissue(24)|thyroid(3)|upper_aerodigestive_tract(3)	1769				Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569)		TTGCCCTTCCAGTGTATACTC	0.498		1	"D, Mis, N, F, S"		"renal, hemangioma, pheochromocytoma"	"renal, hemangioma, pheochromocytoma"			von Hippel-Lindau disease;Pheochromocytoma (Adrenal), Familial;Chuvash Polycythemia																													ENST00000256474.2		1	yes	Rec	yes	von Hippel-Lindau syndrome	3	3p25	7428	"D, Mis, N, F, S"	von Hippel-Lindau syndrome gene			"E, M, O"		"renal, hemangioma, pheochromocytoma"	"renal, hemangioma, pheochromocytoma"		8	Unknown(8)	p.?(8)	kidney(7)|adrenal_gland(1)	adrenal_gland(25)|autonomic_ganglia(3)|central_nervous_system(2)|endometrium(6)|kidney(1662)|large_intestine(14)|lung(6)|pancreas(18)|paratesticular_tissues(1)|pleura(1)|skin(1)|soft_tissue(24)|thyroid(3)|upper_aerodigestive_tract(3)	1769	GRCh37	CS941546|CS961704|CS961705	VHL	S	rs5030816	c.e3-1		von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase							87	79	82					3																	10191469		2203	4300	6503	SO:0001630	splice_region_variant	7428	von Hippel-Lindau disease;Pheochromocytoma (Adrenal), Familial;Chuvash Polycythemia	Familial Cancer Database	VHL; ;Erythrocytosis, Familial type 2	anti-apoptosis|cell morphogenesis|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of cell differentiation|positive regulation of transcription, DNA-dependent|protein stabilization|protein ubiquitination|proteolysis	cytosol|endoplasmic reticulum|membrane|mitochondrion|nucleus	protein binding|transcription factor binding	g.chr3:10191469A>G	L15409	CCDS2597.1, CCDS2598.1	3p25.3	2014-09-17	2012-02-23		ENSG00000134086	ENSG00000134086			12687	protein-coding gene	gene with protein product		608537	"von Hippel-Lindau syndrome", "von Hippel-Lindau tumor suppressor"			9671762	Standard	NM_000551		Approved	VHL1	uc003bvc.3	P40337	OTTHUMG00000128668	ENST00000256474.2:c.464-1A>G	3.37:g.10191469A>G						VHL_ENST00000345392.2_Splice_Site|VHL_ENST00000477538.1_Splice_Site		NM_000551.3	NP_000542.1	P40337	VHL_HUMAN		Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569)	3	1303	+								B2RE45|Q13599|Q6PDA9	Splice_Site	SNP	ENST00000256474.2	37		CCDS2597.1	.	.	.	.	.	.	.	.	.	.	A	13.14	2.147006	0.37923	.	.	ENSG00000134086	ENST00000256474;ENST00000345392;ENST00000450183	.	.	.	4.58	4.58	0.56647	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.2441	0.54560	1.0:0.0:0.0:0.0	rs5030816	.	.	.	.	-1	.	.	.	+	.	.	VHL	10166469	1.000000	0.71417	0.996000	0.52242	0.357000	0.29423	6.694000	0.74587	2.052000	0.61016	0.533000	0.62120	.		0.498	VHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250559.1	NM_000551	Intron	14	22	0	0	0	1	0	14	22					G	10191469	A	G	10191469	5	3	435	1	0	0	0	0	0	0	1	0	17159	202	7	4	472	4	VHL	3	10191469	Splice_Site	SNP	A	TCGA-XK-AAIW-01A-11D-A41K-08	45260	10191469	187830961	1656	22581											
IRAK2	3656	broad.mit.edu	37	chr3	10219598	10219598	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgcagggtgtgagcatcacGcgggagctgctgtggtggtg	5	9	20	7	2	1	1	1	1	0	0	1	2	1	2	0	4	4	4	0	4	0	0	rs572521578	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:10219598G>A	ENST00000256458.4	+	2	261	c.171G>A	c.(169-171)acG>acA	p.T57T		NM_001570.3	NP_001561.3	O43187	IRAK2_HUMAN	interleukin-1 receptor-associated kinase 2	57	Death.				activation of MAPK activity (GO:0000187)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-1-mediated signaling pathway (GO:0070498)|JNK cascade (GO:0007254)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein phosphorylation (GO:0006468)|regulation of cytokine-mediated signaling pathway (GO:0001959)|response to interleukin-1 (GO:0070555)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|endosome membrane (GO:0010008)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)			breast(4)|large_intestine(8)|lung(11)|prostate(1)|stomach(1)	25						TGAGCATCACGCGGGAGCTGC	0.637													G|||	2	0.000399361	0	0.0029	5008	,	,		15740	0		0	False		,,,				2504	0					ENST00000256458.4																			0				breast(4)|large_intestine(8)|lung(11)|prostate(1)|stomach(1)	25						c.(169-171)acG>acA		interleukin-1 receptor-associated kinase 2							70	64	66					3																	10219598		2203	4300	6503	SO:0001819	synonymous_variant	3656				activation of MAPK activity|I-kappaB kinase/NF-kappaB cascade|inflammatory response|innate immune response|interleukin-1-mediated signaling pathway|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of NF-kappaB transcription factor activity|positive regulation of NF-kappaB transcription factor activity|regulation of cytokine-mediated signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cell surface|cytosol|endosome membrane|plasma membrane	ATP binding|NF-kappaB-inducing kinase activity|protein heterodimerization activity|protein homodimerization activity	g.chr3:10219598G>A	AF026273	CCDS33697.1	3p25.2	2008-08-18			ENSG00000134070	ENSG00000134070			6113	protein-coding gene	gene with protein product		603304				9374458	Standard	XR_245126		Approved		uc003bve.1	O43187	OTTHUMG00000155358	ENST00000256458.4:c.171G>A	3.37:g.10219598G>A							p.T57T	NM_001570.3	NP_001561.3	O43187	IRAK2_HUMAN			2	261	+			57			Death.		B4DQZ6|Q08AG6|Q5K546	Silent	SNP	ENST00000256458.4	37	c.171G>A	CCDS33697.1																																																																																				0.637	IRAK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339623.1			18	38	0	0	0	1	0	18	38					A	10219598	G	A	10219598	2	1	435	1	0	0	0	0	0	0	0	1	7823	1074	38	1		1	IRAK2	3	10219598	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	28129	10219598	187802832	1657	22582											
IRAK2	3656	broad.mit.edu	37	chr3	10219625	10219625	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgctgtggtggtggggcatGcggcaggccaccgtccagca	5	7	17	12	2	0	0	0	0	0	0	1	0	1	0	3	6	3	4	3	6	0	0	rs139025747		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:10219625G>C	ENST00000256458.4	+	2	288	c.198G>C	c.(196-198)atG>atC	p.M66I		NM_001570.3	NP_001561.3	O43187	IRAK2_HUMAN	interleukin-1 receptor-associated kinase 2	66	Death.				activation of MAPK activity (GO:0000187)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-1-mediated signaling pathway (GO:0070498)|JNK cascade (GO:0007254)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein phosphorylation (GO:0006468)|regulation of cytokine-mediated signaling pathway (GO:0001959)|response to interleukin-1 (GO:0070555)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|endosome membrane (GO:0010008)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)			breast(4)|large_intestine(8)|lung(11)|prostate(1)|stomach(1)	25						GGTGGGGCATGCGGCAGGCCA	0.632																																						ENST00000256458.4																			0				breast(4)|large_intestine(8)|lung(11)|prostate(1)|stomach(1)	25						c.(196-198)atG>atC		interleukin-1 receptor-associated kinase 2							69	62	64					3																	10219625		2203	4300	6503	SO:0001583	missense	3656				activation of MAPK activity|I-kappaB kinase/NF-kappaB cascade|inflammatory response|innate immune response|interleukin-1-mediated signaling pathway|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of NF-kappaB transcription factor activity|positive regulation of NF-kappaB transcription factor activity|regulation of cytokine-mediated signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cell surface|cytosol|endosome membrane|plasma membrane	ATP binding|NF-kappaB-inducing kinase activity|protein heterodimerization activity|protein homodimerization activity	g.chr3:10219625G>C	AF026273	CCDS33697.1	3p25.2	2008-08-18			ENSG00000134070	ENSG00000134070			6113	protein-coding gene	gene with protein product		603304				9374458	Standard	XR_245126		Approved		uc003bve.1	O43187	OTTHUMG00000155358	ENST00000256458.4:c.198G>C	3.37:g.10219625G>C	ENSP00000256458:p.Met66Ile						p.M66I	NM_001570.3	NP_001561.3	O43187	IRAK2_HUMAN			2	288	+			66			Death.		B4DQZ6|Q08AG6|Q5K546	Missense_Mutation	SNP	ENST00000256458.4	37	c.198G>C	CCDS33697.1	.	.	.	.	.	.	.	.	.	.	G	14.35	2.510143	0.44660	.	.	ENSG00000134070	ENST00000256458	D	0.84800	-1.9	4.97	4.97	0.65823	Death (1);DEATH-like (2);	0.098879	0.44483	D	0.000441	D	0.83298	0.5224	L	0.36672	1.1	0.36983	D	0.894398	P	0.48503	0.911	P	0.49752	0.621	D	0.85445	0.1157	10	0.38643	T	0.18	-30.907	13.7243	0.62748	0.0:0.0:1.0:0.0	.	66	O43187	IRAK2_HUMAN	I	66	ENSP00000256458:M66I	ENSP00000256458:M66I	M	+	3	0	IRAK2	10194625	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	3.484000	0.53201	2.307000	0.77673	0.491000	0.48974	ATG		0.632	IRAK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339623.1			18	40	0	0	0	1	0	18	40					C	10219625	G	C	10219625	3	2	435	1	0	0	0	0	1	0	0	0	7823	1319	46	5	204	5	IRAK2	3	10219625	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	27	10219625	187802805	1658	22583											
IRAK2	3656	broad.mit.edu	37	chr3	10276298	10276298	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgcgccgaggccctggccacGgctgcctgcctgtgcctgcg	2	7	15	17	4	0	0	0	0	0	0	0	1	0	0	6	3	5	1	6	3	0	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:10276298G>A	ENST00000256458.4	+	11	1518	c.1428G>A	c.(1426-1428)acG>acA	p.T476T		NM_001570.3	NP_001561.3	O43187	IRAK2_HUMAN	interleukin-1 receptor-associated kinase 2	476	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-1-mediated signaling pathway (GO:0070498)|JNK cascade (GO:0007254)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein phosphorylation (GO:0006468)|regulation of cytokine-mediated signaling pathway (GO:0001959)|response to interleukin-1 (GO:0070555)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|endosome membrane (GO:0010008)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)			breast(4)|large_intestine(8)|lung(11)|prostate(1)|stomach(1)	25						CCCTGGCCACGGCTGCCTGCC	0.687																																						ENST00000256458.4																			0				breast(4)|large_intestine(8)|lung(11)|prostate(1)|stomach(1)	25						c.(1426-1428)acG>acA		interleukin-1 receptor-associated kinase 2							34	33	33					3																	10276298		2198	4292	6490	SO:0001819	synonymous_variant	3656				activation of MAPK activity|I-kappaB kinase/NF-kappaB cascade|inflammatory response|innate immune response|interleukin-1-mediated signaling pathway|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of NF-kappaB transcription factor activity|positive regulation of NF-kappaB transcription factor activity|regulation of cytokine-mediated signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cell surface|cytosol|endosome membrane|plasma membrane	ATP binding|NF-kappaB-inducing kinase activity|protein heterodimerization activity|protein homodimerization activity	g.chr3:10276298G>A	AF026273	CCDS33697.1	3p25.2	2008-08-18			ENSG00000134070	ENSG00000134070			6113	protein-coding gene	gene with protein product		603304				9374458	Standard	XR_245126		Approved		uc003bve.1	O43187	OTTHUMG00000155358	ENST00000256458.4:c.1428G>A	3.37:g.10276298G>A							p.T476T	NM_001570.3	NP_001561.3	O43187	IRAK2_HUMAN			11	1518	+			476			Protein kinase.		B4DQZ6|Q08AG6|Q5K546	Silent	SNP	ENST00000256458.4	37	c.1428G>A	CCDS33697.1																																																																																				0.687	IRAK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339623.1			15	42	0	0	0	1	0	15	42					A	10276298	G	A	10276298	2	1	435	1	0	0	0	0	0	0	0	1	7823	1103	39	2		2	IRAK2	3	10276298	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	56673	10276298	187746132	1659	22584											
SLC6A11	6538	broad.mit.edu	37	chr3	10976794	10976794	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ctacccagcctggggctatgGcattggctggctcatggccc	5	9	13	14	0	1	0	1	0	0	0	1	0	1	0	3	6	2	4	3	6	2	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:10976794G>A	ENST00000254488.2	+	13	1721	c.1655G>A	c.(1654-1656)gGc>gAc	p.G552D		NM_014229.1	NP_055044.1	P48066	S6A11_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 11	552					brain development (GO:0007420)|neurotransmitter secretion (GO:0007269)|response to drug (GO:0042493)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	gamma-aminobutyric acid:sodium symporter activity (GO:0005332)|neurotransmitter binding (GO:0042165)|neurotransmitter:sodium symporter activity (GO:0005328)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(13)|ovary(1)|skin(4)	35				OV - Ovarian serous cystadenocarcinoma(96;0.229)	Clobazam(DB00349)	TGGGGCTATGGCATTGGCTGG	0.567																																						ENST00000254488.2																			0				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(13)|ovary(1)|skin(4)	35						c.(1654-1656)gGc>gAc		solute carrier family 6 (neurotransmitter transporter), member 11							193	171	178					3																	10976794		2203	4300	6503	SO:0001583	missense	6538				neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity	g.chr3:10976794G>A	S75989	CCDS2602.1	3p25.3	2013-07-19	2013-07-19		ENSG00000132164	ENSG00000132164		"Solute carriers"	11044	protein-coding gene	gene with protein product	"GABA transporter 3"	607952	"solute carrier family 6 (neurotransmitter transporter, GABA), member 11"			7874447	Standard	NM_014229		Approved	GAT3	uc003bvz.3	P48066	OTTHUMG00000129718	ENST00000254488.2:c.1655G>A	3.37:g.10976794G>A	ENSP00000254488:p.Gly552Asp						p.G552D	NM_014229.1	NP_055044.1	P48066	S6A11_HUMAN		OV - Ovarian serous cystadenocarcinoma(96;0.229)	13	1721	+			552					B2R6U6|Q8IYC9	Missense_Mutation	SNP	ENST00000254488.2	37	c.1655G>A	CCDS2602.1	.	.	.	.	.	.	.	.	.	.	G	14.59	2.579919	0.46006	.	.	ENSG00000132164	ENST00000254488	T	0.74737	-0.87	4.19	4.19	0.49359	.	0.130130	0.51477	D	0.000085	T	0.73473	0.3591	M	0.66506	2.035	0.80722	D	1	B	0.17465	0.022	B	0.28784	0.094	T	0.74278	-0.3717	10	0.62326	D	0.03	.	12.9287	0.58275	0.0:0.1629:0.8371:0.0	.	552	P48066	S6A11_HUMAN	D	552	ENSP00000254488:G552D	ENSP00000254488:G552D	G	+	2	0	SLC6A11	10951794	0.993000	0.37304	0.938000	0.37757	0.861000	0.49209	1.947000	0.40293	2.348000	0.79779	0.655000	0.94253	GGC		0.567	SLC6A11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251927.1	NM_014229		45	70	0	0	0	1	0	45	70					A	10976794	G	A	10976794	3	1	435	1	0	0	0	0	1	0	0	0	14674	1203	42	3	1705	3	SLC6A11	3	10976794	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	700496	10976794	187045636	1660	22585											
SLC6A11	6538	broad.mit.edu	37	chr3	10979978	10979978	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccagcacagatctgaaaatgCggggcaagcttggggtgagc	11	6	15	9	1	1	3	0	2	1	1	1	3	1	3	1	4	4	3	1	4	3	1	rs142712079	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:10979978C>T	ENST00000254488.2	+	14	1855	c.1789C>T	c.(1789-1791)Cgg>Tgg	p.R597W		NM_014229.1	NP_055044.1	P48066	S6A11_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 11	597					brain development (GO:0007420)|neurotransmitter secretion (GO:0007269)|response to drug (GO:0042493)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	gamma-aminobutyric acid:sodium symporter activity (GO:0005332)|neurotransmitter binding (GO:0042165)|neurotransmitter:sodium symporter activity (GO:0005328)	p.R597W(1)		breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(13)|ovary(1)|skin(4)	35				OV - Ovarian serous cystadenocarcinoma(96;0.229)	Clobazam(DB00349)	TCTGAAAATGCGGGGCAAGCT	0.547													C|||	7	0.00139776	0	0	5008	,	,		18261	0.0069		0	False		,,,				2504	0					ENST00000254488.2																			1	Substitution - Missense(1)	p.R597W(1)	large_intestine(1)	breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(13)|ovary(1)|skin(4)	35						c.(1789-1791)Cgg>Tgg		solute carrier family 6 (neurotransmitter transporter), member 11		C	TRP/ARG	2,4404	4.2+/-10.8	0,2,2201	117	108	111		1789	1.5	1	3	dbSNP_134	111	0,8600		0,0,4300	yes	missense	SLC6A11	NM_014229.1	101	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	benign	597/633	10979978	2,13004	2203	4300	6503	SO:0001583	missense	6538				neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity	g.chr3:10979978C>T	S75989	CCDS2602.1	3p25.3	2013-07-19	2013-07-19		ENSG00000132164	ENSG00000132164		"Solute carriers"	11044	protein-coding gene	gene with protein product	"GABA transporter 3"	607952	"solute carrier family 6 (neurotransmitter transporter, GABA), member 11"			7874447	Standard	NM_014229		Approved	GAT3	uc003bvz.3	P48066	OTTHUMG00000129718	ENST00000254488.2:c.1789C>T	3.37:g.10979978C>T	ENSP00000254488:p.Arg597Trp						p.R597W	NM_014229.1	NP_055044.1	P48066	S6A11_HUMAN		OV - Ovarian serous cystadenocarcinoma(96;0.229)	14	1855	+			597					B2R6U6|Q8IYC9	Missense_Mutation	SNP	ENST00000254488.2	37	c.1789C>T	CCDS2602.1	5	0.0022893772893772895	0	0.0	0	0.0	5	0.008741258741258742	0	0.0	C	14.81	2.647594	0.47258	4.54E-4	0.0	ENSG00000132164	ENST00000254488	T	0.74842	-0.88	4.81	1.53	0.23141	.	0.361639	0.26542	N	0.023798	T	0.53997	0.1831	L	0.29908	0.895	0.80722	D	1	B	0.18863	0.031	B	0.12837	0.008	T	0.56189	-0.8020	10	0.51188	T	0.08	.	13.7065	0.62644	0.5834:0.4166:0.0:0.0	.	597	P48066	S6A11_HUMAN	W	597	ENSP00000254488:R597W	ENSP00000254488:R597W	R	+	1	2	SLC6A11	10954978	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	2.124000	0.42006	0.418000	0.25898	0.655000	0.94253	CGG		0.547	SLC6A11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251927.1	NM_014229		17	45	0	0	0	1	0	17	45					T	10979978	C	T	10979978	3	4	435	1	0	0	0	0	1	0	0	0	14674	759	27	1	1843	1	SLC6A11	3	10979978	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	3184	10979978	187042452	1661	22586											
SLC6A1	6529	broad.mit.edu	37	chr3	11061942	11061942	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caacccctggaacacagaccGctgcttctccaactacagca	12	6	6	17	1	1	1	0	0	1	1	2	2	1	2	4	1	6	3	4	1	4	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:11061942G>A	ENST00000287766.4	+	6	936	c.515G>A	c.(514-516)cGc>cAc	p.R172H	SLC6A1_ENST00000536032.1_De_novo_Start_OutOfFrame|SLC6A1-AS1_ENST00000414969.2_RNA	NM_003042.3	NP_003033.3	P30531	SC6A1_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 1	172					gamma-aminobutyric acid import (GO:0051939)|learning (GO:0007612)|negative regulation of synaptic transmission, GABAergic (GO:0032229)|neurotransmitter secretion (GO:0007269)|positive regulation of gamma-aminobutyric acid secretion (GO:0014054)|protein homooligomerization (GO:0051260)|response to calcium ion (GO:0051592)|response to cocaine (GO:0042220)|response to estradiol (GO:0032355)|response to lead ion (GO:0010288)|response to purine-containing compound (GO:0014074)|response to sucrose (GO:0009744)|response to toxic substance (GO:0009636)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	axon (GO:0030424)|cell surface (GO:0009986)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	gamma-aminobutyric acid:sodium symporter activity (GO:0005332)|neurotransmitter:sodium symporter activity (GO:0005328)			breast(1)|endometrium(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	26		Ovarian(110;0.0392)		OV - Ovarian serous cystadenocarcinoma(96;0.00099)	Clobazam(DB00349)|Tiagabine(DB00906)	AACACAGACCGCTGCTTCTCC	0.592																																						ENST00000536032.1																			0				breast(1)|endometrium(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	26								solute carrier family 6 (neurotransmitter transporter), member 1	Cocaine(DB00907)|Tiagabine(DB00906)						173	121	139					3																	11061942		2203	4300	6503	SO:0001583	missense	6529				neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity	g.chr3:11061942G>A		CCDS2603.1	3p25.3	2013-07-19	2013-07-19		ENSG00000157103	ENSG00000157103		"Solute carriers"	11042	protein-coding gene	gene with protein product	"GABA transporter 1"	137165	"solute carrier family 6 (neurotransmitter transporter, GABA), member 1"			8530094	Standard	NM_003042		Approved	GAT1, GABATR, GABATHG	uc010hdq.3	P30531	OTTHUMG00000044208	ENST00000287766.4:c.515G>A	3.37:g.11061942G>A	ENSP00000287766:p.Arg172His					SLC6A1_ENST00000287766.4_Missense_Mutation_p.R172H				P30531	SC6A1_HUMAN		OV - Ovarian serous cystadenocarcinoma(96;0.00099)	0	289	+		Ovarian(110;0.0392)						Q8N4K8	Translation_Start_Site	SNP	ENST00000287766.4	37		CCDS2603.1	.	.	.	.	.	.	.	.	.	.	G	10.32	1.317029	0.23908	.	.	ENSG00000157103	ENST00000287766	T	0.74842	-0.88	5.04	3.26	0.37387	.	0.073377	0.64402	N	0.000020	T	0.56262	0.1973	N	0.25031	0.7	0.80722	D	1	B	0.21071	0.051	B	0.16289	0.015	T	0.44050	-0.9353	10	0.20519	T	0.43	.	9.2705	0.37668	0.2298:0.0:0.7702:0.0	.	172	P30531	SC6A1_HUMAN	H	172	ENSP00000287766:R172H	ENSP00000287766:R172H	R	+	2	0	SLC6A1	11036942	0.997000	0.39634	1.000000	0.80357	0.981000	0.71138	1.501000	0.35693	0.720000	0.32209	0.561000	0.74099	CGC		0.592	SLC6A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102767.2	NM_003042		10	16	0	0	0	1	0	10	16					A	11061942	G	A	11061942	3	1	435	1	0	0	0	0	1	0	0	0	14673	1087	38	1	529	1	SLC6A1	3	11061942	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	81964	11061942	186960488	1662	22587											
HRH1	3269	broad.mit.edu	37	chr3	11301661	11301661	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tattgtgcacatgcaggctgCggcagaggggagtagcaggg	9	7	18	7	1	0	1	0	0	0	1	0	2	0	2	0	5	4	6	0	5	2	3	rs201210547	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:11301661C>T	ENST00000397056.1	+	3	1129	c.938C>T	c.(937-939)gCg>gTg	p.A313V	HRH1_ENST00000431010.2_Missense_Mutation_p.A313V|HRH1_ENST00000438284.2_Missense_Mutation_p.A313V	NM_000861.3|NM_001098211.1	NP_000852.1|NP_001091681.1	P35367	HRH1_HUMAN	histamine receptor H1	313					cellular response to histamine (GO:0071420)|eosinophil chemotaxis (GO:0048245)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|inositol phosphate-mediated signaling (GO:0048016)|memory (GO:0007613)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of inositol trisphosphate biosynthetic process (GO:0032962)|positive regulation of vasoconstriction (GO:0045907)|regulation of synaptic plasticity (GO:0048167)|regulation of vascular permeability (GO:0043114)|visual learning (GO:0008542)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|histamine receptor activity (GO:0004969)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25					Aceprometazine(DB01615)|Alcaftadine(DB06766)|Alimemazine(DB01246)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Antazoline(DB08799)|Aripiprazole(DB01238)|Asenapine(DB06216)|Astemizole(DB00637)|Azatadine(DB00719)|Azelastine(DB00972)|Benzatropine(DB00245)|Bepotastine(DB04890)|Betahistine(DB06698)|Bromodiphenhydramine(DB01237)|Brompheniramine(DB00835)|Buclizine(DB00354)|Carbinoxamine(DB00748)|Cetirizine(DB00341)|Chlorcyclizine(DB08936)|Chloropyramine(DB08800)|Chlorphenamine(DB01114)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Citalopram(DB00215)|Clemastine(DB00283)|Clofedanol(DB04837)|Clozapine(DB00363)|Cyclizine(DB01176)|Cyproheptadine(DB00434)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexbrompheniramine(DB00405)|Dimenhydrinate(DB00985)|Dimetindene(DB08801)|Diphenhydramine(DB01075)|Diphenylpyraline(DB01146)|Doxepin(DB01142)|Doxylamine(DB00366)|Emedastine(DB01084)|Epinastine(DB00751)|Escitalopram(DB01175)|Fexofenadine(DB00950)|Flunarizine(DB04841)|Histamine Phosphate(DB00667)|Hydroxyzine(DB00557)|Iloperidone(DB04946)|Imipramine(DB00458)|Isothipendyl(DB08802)|Ketotifen(DB00920)|Levocabastine(DB01106)|Loratadine(DB00455)|Loxapine(DB00408)|Maprotiline(DB00934)|Meclizine(DB00737)|Mepyramine(DB06691)|Mequitazine(DB01071)|Methdilazine(DB00902)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Mirtazapine(DB00370)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Olopatadine(DB00768)|Orphenadrine(DB01173)|Paliperidone(DB01267)|Phenindamine(DB01619)|Pheniramine(DB01620)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Tolazoline(DB00797)|Trazodone(DB00656)|Trimipramine(DB00726)|Tripelennamine(DB00792)|Triprolidine(DB00427)|Ziprasidone(DB00246)	ATGCAGGCTGCGGCAGAGGGG	0.532													C|||	2	0.000399361	0.0015	0	5008	,	,		20526	0		0	False		,,,				2504	0					ENST00000397056.1																			0				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25						c.(937-939)gCg>gTg		histamine receptor H1	Aceprometazine(DB01615)|Astemizole(DB00637)|Azatadine(DB00719)|Azelastine(DB00972)|Benzquinamide(DB00767)|Bepotastine(DB04890)|Bromodiphenhydramine(DB01237)|Brompheniramine(DB00835)|Buclizine(DB00354)|Carbinoxamine(DB00748)|Cetirizine(DB00341)|Chlophedianol(DB04837)|Chlorpheniramine(DB01114)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clemastine(DB00283)|Clozapine(DB00363)|Cyclizine(DB01176)|Cyproheptadine(DB00434)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexbrompheniramine(DB00405)|Dimenhydrinate(DB00985)|Diphenhydramine(DB01075)|Diphenylpyraline(DB01146)|Doxepin(DB01142)|Doxylamine(DB00366)|Emedastine(DB01084)|Epinastine(DB00751)|Fexofenadine(DB00950)|Flunarizine(DB04841)|Histamine Phosphate(DB00667)|Hydroxyzine(DB00557)|Ketotifen(DB00920)|Levocabastine(DB01106)|Loratadine(DB00455)|Maprotiline(DB00934)|Meclizine(DB00737)|Mequitazine(DB01071)|Methdilazine(DB00902)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Mirtazapine(DB00370)|Nedocromil(DB00716)|Olanzapine(DB00334)|Olopatadine(DB00768)|Orphenadrine(DB01173)|Pemirolast(DB00885)|Phenindamine(DB01619)|Pheniramine(DB01620)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Terfenadine(DB00342)|Thiethylperazine(DB00372)|Trazodone(DB00656)|Trimeprazine(DB01246)|Tripelennamine(DB00792)|Triprolidine(DB00427)|Ziprasidone(DB00246)						73	79	77					3																	11301661		2203	4300	6503	SO:0001583	missense	3269				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|inflammatory response	cytoplasm|integral to plasma membrane|nucleus	histamine receptor activity	g.chr3:11301661C>T		CCDS2604.1	3p25	2012-11-12			ENSG00000196639	ENSG00000196639		"GPCR / Class A : Histamine receptors"	5182	protein-coding gene	gene with protein product		600167				8003029	Standard	NM_001098211		Approved		uc010hds.3	P35367	OTTHUMG00000129719	ENST00000397056.1:c.938C>T	3.37:g.11301661C>T	ENSP00000380247:p.Ala313Val					HRH1_ENST00000431010.2_Missense_Mutation_p.A313V|HRH1_ENST00000438284.2_Missense_Mutation_p.A313V	p.A313V	NM_000861.3|NM_001098211.1	NP_000852.1|NP_001091681.1	P35367	HRH1_HUMAN			3	1129	+			313					A8K047|Q6P9E5	Missense_Mutation	SNP	ENST00000397056.1	37	c.938C>T	CCDS2604.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	2.962	-0.214419	0.06101	.	.	ENSG00000196639	ENST00000438284;ENST00000431010;ENST00000397056	T;T;T	0.66099	-0.19;-0.19;-0.19	5.66	-3.59	0.04583	GPCR, rhodopsin-like superfamily (1);	1.289470	0.05176	N	0.500457	T	0.30262	0.0759	N	0.03608	-0.345	0.09310	N	1	B	0.11235	0.004	B	0.04013	0.001	T	0.08680	-1.0710	10	0.27785	T	0.31	-0.8513	0.6854	0.00882	0.1913:0.25:0.171:0.3876	.	313	P35367	HRH1_HUMAN	V	313	ENSP00000406705:A313V;ENSP00000397028:A313V;ENSP00000380247:A313V	ENSP00000380247:A313V	A	+	2	0	HRH1	11276661	0.000000	0.05858	0.028000	0.17463	0.030000	0.12068	-0.275000	0.08525	-0.167000	0.10871	-1.119000	0.02030	GCG		0.532	HRH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251928.2			20	40	0	0	0	1	0	20	40					T	11301661	C	T	11301661	3	4	435	1	0	0	0	0	1	0	0	0	7355	768	27	1	940	1	HRH1	3	11301661	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	239719	11301661	186720769	1663	22588											
SYN2	7079	broad.mit.edu	37	chr3	12203621	12203621	+	5'Flank	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccaagtatgacatccgggTccagaagattggcaacaact	13	8	9	11	1	0	3	0	1	0	2	3	3	3	3	3	2	2	2	3	2	5	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:12203621T>C	ENST00000287814.4	-	0	0				SYN2_ENST00000432424.2_RNA	NM_003256.3	NP_003247.1	Q99727	TIMP4_HUMAN	TIMP metallopeptidase inhibitor 4						central nervous system development (GO:0007417)|negative regulation of endopeptidase activity (GO:0010951)|ovulation cycle (GO:0042698)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to lipopolysaccharide (GO:0032496)|response to peptide hormone (GO:0043434)	extracellular space (GO:0005615)|sarcomere (GO:0030017)	metal ion binding (GO:0046872)|metalloendopeptidase inhibitor activity (GO:0008191)			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	11						GACATCCGGGTCCAGAAGATT	0.502																																					Melanoma(199;1446 2144 30617 38794 51714)	ENST00000432424.2																			0				breast(5)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)	18								synapsin II							75	78	77					3																	12203621		2175	4292	6467	SO:0001631	upstream_gene_variant	6854				neurotransmitter secretion	synaptic vesicle	ATP binding|ligase activity	g.chr3:12203621T>C	U76456	CCDS2608.1	3p25	2005-10-31	2005-08-08		ENSG00000157150	ENSG00000157150			11823	protein-coding gene	gene with protein product		601915	"tissue inhibitor of metalloproteinase 4"			8939999, 9693046	Standard	NM_003256		Approved		uc003bwo.3	Q99727	OTTHUMG00000129763		3.37:g.12203621T>C	Exception_encountered									Q86VA8	Q86VA8_HUMAN			0	1119	+								B2R7K6	RNA	SNP	ENST00000287814.4	37		CCDS2608.1	.	.	.	.	.	.	.	.	.	.	T	15.35	2.807670	0.50421	.	.	ENSG00000157152	ENST00000540660	.	.	.	4.95	4.95	0.65309	ATP-grasp fold, subdomain 2 (1);Synapsin, ATP-binding domain (1);	0.134464	0.51477	D	0.000085	T	0.58509	0.2127	M	0.68317	2.08	0.29056	N	0.8842	P;P	0.49358	0.894;0.923	P;P	0.51742	0.678;0.645	T	0.61907	-0.6966	9	0.87932	D	0	-17.6613	14.8101	0.69989	0.0:0.0:0.0:1.0	.	316;316	Q92777;Q92777-2	SYN2_HUMAN;.	A	248	.	ENSP00000442512:V248A	V	+	2	0	SYN2	12178621	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.863000	0.87023	2.084000	0.62774	0.533000	0.62120	GTC		0.502	TIMP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251978.1	NM_003256		8	17	0	0	0	1	0	8	17					C	12203621	T	C	12203621	1	2	435	0	1	0	0	0	0	0	0	0	15438	1667	58	4		4	SYN2	3	12203621	5'Flank	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	901960	12203621	185818809	1664	22589											
RAF1	5894	broad.mit.edu	37	chr3	12653484	12653484	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agaagtctgaacactgcacaGcactctggttgcaggcccct	10	8	10	13	0	2	2	0	1	2	1	2	2	2	2	2	2	4	4	2	2	2	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:12653484G>A	ENST00000251849.4	-	3	724	c.285C>T	c.(283-285)tgC>tgT	p.C95C	RAF1_ENST00000442415.2_Silent_p.C95C|RAF1_ENST00000542177.1_Intron|RAF1_ENST00000534997.1_5'Flank	NM_002880.3	NP_002871.1	P04049	RAF1_HUMAN	Raf-1 proto-oncogene, serine/threonine kinase	95	RBD. {ECO:0000255|PROSITE- ProRule:PRU00262}.				activation of adenylate cyclase activity (GO:0007190)|activation of MAPKK activity (GO:0000186)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell proliferation (GO:0008283)|death-inducing signaling complex assembly (GO:0071550)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|intermediate filament cytoskeleton organization (GO:0045104)|ion transmembrane transport (GO:0034220)|MAPK cascade (GO:0000165)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of protein complex assembly (GO:0031333)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein phosphorylation (GO:0006468)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of cell differentiation (GO:0045595)|regulation of cell motility (GO:2000145)|regulation of Rho protein signal transduction (GO:0035023)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|mitochondrial outer membrane (GO:0005741)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|pseudopodium (GO:0031143)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)		ESRP1/RAF1(4)|RAF1/DAZL(2)|SRGAP3/RAF1(6)	biliary_tract(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)	32					Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)	ACACTGCACAGCACTCTGGTT	0.443			T	SRGAP3	pilocytic astrocytoma				Noonan syndrome																													ENST00000251849.4				Dom	yes		3	3p25	5894	T	v-raf-1 murine leukemia viral oncogene homolog 1			M	SRGAP3		pilocytic astrocytoma	ESRP1/RAF1(4)|RAF1/DAZL(2)|SRGAP3/RAF1(6)	0				biliary_tract(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)	32						c.(283-285)tgC>tgT		v-raf-1 murine leukemia viral oncogene homolog 1	Sorafenib(DB00398)						176	170	172					3																	12653484		2203	4300	6503	SO:0001819	synonymous_variant	5894	Noonan syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome	activation of MAPKK activity|apoptosis|axon guidance|cell proliferation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|negative regulation of apoptosis|negative regulation of cell proliferation|negative regulation of protein complex assembly|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of peptidyl-serine phosphorylation|Ras protein signal transduction|synaptic transmission	cytosol|mitochondrial outer membrane|plasma membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|receptor signaling protein activity	g.chr3:12653484G>A	X03484	CCDS2612.1	3p25	2014-09-17	2014-06-26		ENSG00000132155	ENSG00000132155			9829	protein-coding gene	gene with protein product	"C-Raf proto-oncogene, serine/threonine kinase"	164760	"v-raf-1 murine leukemia viral oncogene homolog 1"			1611909	Standard	NM_002880		Approved	Raf-1, c-Raf, CRAF	uc003bxf.4	P04049	OTTHUMG00000129789	ENST00000251849.4:c.285C>T	3.37:g.12653484G>A						RAF1_ENST00000542177.1_Intron|RAF1_ENST00000442415.2_Silent_p.C95C	p.C95C	NM_002880.3	NP_002871.1	P04049	RAF1_HUMAN			3	724	-			95			RBD.		B0LPH8|B2R5N3|Q15278|Q9UC20	Silent	SNP	ENST00000251849.4	37	c.285C>T	CCDS2612.1																																																																																				0.443	RAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252015.2	NM_002880		6	121	0	0	0	1	0	6	121					A	12653484	G	A	12653484	2	1	435	1	0	0	0	0	0	0	0	1	13002	963	34	3		3	RAF1	3	12653484	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	449863	12653484	185368946	1665	22590											
TMEM40	55287	broad.mit.edu	37	chr3	12791290	12791290	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgtttctctgtggacttgActgttgtcctgaggctggga	4	16	13	8	0	2	2	0	2	2	0	4	4	3	4	1	3	0	3	1	3	0	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:12791290A>G	ENST00000314124.7	-	2	398	c.42T>C	c.(40-42)agT>agC	p.S14S	TMEM40_ENST00000264728.8_Silent_p.S14S|TMEM40_ENST00000431022.2_Silent_p.S30S|TMEM40_ENST00000435575.1_Silent_p.S14S|TMEM40_ENST00000435218.2_Silent_p.S14S	NM_001284406.1|NM_018306.2	NP_001271335.1|NP_060776.2	Q8WWA1	TMM40_HUMAN	transmembrane protein 40	14						integral component of membrane (GO:0016021)				breast(1)|large_intestine(3)|lung(5)|urinary_tract(1)	10						TGTGGACTTGACTGTTGTCCT	0.448																																						ENST00000314124.7																			0				breast(1)|large_intestine(3)|lung(5)|urinary_tract(1)	10						c.(40-42)agT>agC		transmembrane protein 40							217	183	194					3																	12791290		2203	4300	6503	SO:0001819	synonymous_variant	55287					integral to membrane		g.chr3:12791290A>G	BC020658	CCDS2613.1, CCDS68347.1, CCDS68348.1	3p25.2	2005-01-10			ENSG00000088726	ENSG00000088726			25620	protein-coding gene	gene with protein product						12477932	Standard	NM_018306		Approved	FLJ11036	uc003bxg.1	Q8WWA1	OTTHUMG00000129801	ENST00000314124.7:c.42T>C	3.37:g.12791290A>G						TMEM40_ENST00000435575.1_Silent_p.S14S|TMEM40_ENST00000435218.2_Silent_p.S14S|TMEM40_ENST00000264728.8_Silent_p.S14S|TMEM40_ENST00000431022.2_Silent_p.S30S	p.S14S	NM_018306.2	NP_060776.2	Q8WWA1	TMM40_HUMAN			2	398	-			14					C9JID5|Q8NAL4|Q9NUZ4	Silent	SNP	ENST00000314124.7	37	c.42T>C	CCDS2613.1																																																																																				0.448	TMEM40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252029.2	NM_018306		30	35	0	0	0	1	0	30	35					G	12791290	A	G	12791290	2	3	435	1	0	0	0	0	0	0	0	1	16160	272	10	4		4	TMEM40	3	12791290	Silent	SNP	A	TCGA-XK-AAIW-01A-11D-A41K-08	137806	12791290	185231140	1666	22591											
CAND2	23066	broad.mit.edu	37	chr3	12859357	12859357	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cgttccttctgccccgcttgCggaagcagcttgctgcaggt	4	11	12	14	3	1	0	0	0	1	0	2	1	2	1	3	2	6	6	3	2	1	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:12859357C>T	ENST00000456430.2	+	10	2967	c.2926C>T	c.(2926-2928)Cgg>Tgg	p.R976W	CAND2_ENST00000295989.5_Missense_Mutation_p.R883W	NM_001162499.1	NP_001155971.1	O75155	CAND2_HUMAN	cullin-associated and neddylation-dissociated 2 (putative)	976					positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	intracellular (GO:0005622)|nucleus (GO:0005634)				breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(8)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						GCCCCGCTTGCGGAAGCAGCT	0.657																																					GBM(43;676 868 1633 6395 37496)	ENST00000456430.2																			0				breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(8)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						c.(2926-2928)Cgg>Tgg		cullin-associated and neddylation-dissociated 2 (putative)							56	63	60					3																	12859357		2029	4175	6204	SO:0001583	missense	23066				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	g.chr3:12859357C>T		CCDS43053.1, CCDS54554.1	3p25.2	2008-02-05			ENSG00000144712	ENSG00000144712			30689	protein-coding gene	gene with protein product	"TBP interacting protein"	610403				9734811, 10441524	Standard	NM_012298		Approved	TIP120B, KIAA0667, Tp120b	uc003bxk.2	O75155	OTTHUMG00000155397	ENST00000456430.2:c.2926C>T	3.37:g.12859357C>T	ENSP00000387641:p.Arg976Trp					CAND2_ENST00000295989.5_Missense_Mutation_p.R883W	p.R976W	NM_001162499.1	NP_001155971.1	O75155	CAND2_HUMAN			10	2967	+			976					B9EGM9|E9KL24	Missense_Mutation	SNP	ENST00000456430.2	37	c.2926C>T	CCDS54554.1	.	.	.	.	.	.	.	.	.	.	C	14.15	2.449964	0.43531	.	.	ENSG00000144712	ENST00000295989;ENST00000456430	T;T	0.18502	2.21;2.21	4.37	2.36	0.29203	Armadillo-like helical (1);Armadillo-type fold (1);	0.439705	0.20829	N	0.084923	T	0.21145	0.0509	L	0.50333	1.59	0.80722	D	1	D;D	0.71674	0.991;0.998	P;P	0.53224	0.462;0.721	T	0.02301	-1.1180	10	0.52906	T	0.07	-6.8431	4.7647	0.13127	0.3877:0.5088:0.0:0.1035	.	976;883	O75155;O75155-2	CAND2_HUMAN;.	W	883;976	ENSP00000295989:R883W;ENSP00000387641:R976W	ENSP00000295989:R883W	R	+	1	2	CAND2	12834357	1.000000	0.71417	1.000000	0.80357	0.766000	0.43426	3.484000	0.53201	0.937000	0.37394	0.561000	0.74099	CGG		0.657	CAND2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339856.4	XM_371617		19	23	0	0	0	1	0	19	23					T	12859357	C	T	12859357	3	4	435	1	0	0	0	0	1	0	0	0	2616	759	27	1	2964	1	CAND2	3	12859357	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	68067	12859357	185163073	1667	22592											
CAND2	23066	broad.mit.edu	37	chr3	12869094	12869094	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gacgggctgaaggaccactaCgacatccgggtaagaccaag	13	4	13	11	3	0	2	0	1	0	1	1	5	1	3	3	3	1	2	3	3	4	2	rs367749511		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:12869094C>T	ENST00000456430.2	+	13	3407	c.3366C>T	c.(3364-3366)taC>taT	p.Y1122Y	CAND2_ENST00000295989.5_Silent_p.Y1005Y	NM_001162499.1	NP_001155971.1	O75155	CAND2_HUMAN	cullin-associated and neddylation-dissociated 2 (putative)	1122					positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	intracellular (GO:0005622)|nucleus (GO:0005634)				breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(8)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						AGGACCACTACGACATCCGGG	0.562																																					GBM(43;676 868 1633 6395 37496)	ENST00000456430.2																			0				breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(8)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						c.(3364-3366)taC>taT		cullin-associated and neddylation-dissociated 2 (putative)		C	,	1,4065		0,1,2032	108	108	108		3366,3015	-6	0.9	3		108	0,8350		0,0,4175	no	coding-synonymous,coding-synonymous	CAND2	NM_001162499.1,NM_012298.2	,	0,1,6207	TT,TC,CC		0.0,0.0246,0.0081	,	1122/1237,1005/1120	12869094	1,12415	2033	4175	6208	SO:0001819	synonymous_variant	23066				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	g.chr3:12869094C>T		CCDS43053.1, CCDS54554.1	3p25.2	2008-02-05			ENSG00000144712	ENSG00000144712			30689	protein-coding gene	gene with protein product	"TBP interacting protein"	610403				9734811, 10441524	Standard	NM_012298		Approved	TIP120B, KIAA0667, Tp120b	uc003bxk.2	O75155	OTTHUMG00000155397	ENST00000456430.2:c.3366C>T	3.37:g.12869094C>T						CAND2_ENST00000295989.5_Silent_p.Y1005Y	p.Y1122Y	NM_001162499.1	NP_001155971.1	O75155	CAND2_HUMAN			13	3407	+			1122					B9EGM9|E9KL24	Silent	SNP	ENST00000456430.2	37	c.3366C>T	CCDS54554.1																																																																																				0.562	CAND2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339856.4	XM_371617		10	33	0	0	0	1	0	10	33					T	12869094	C	T	12869094	2	4	435	1	0	0	0	0	0	0	0	1	2616	547	19	1		1	CAND2	3	12869094	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	9737	12869094	185153336	1668	22593											
NUP210	23225	broad.mit.edu	37	chr3	13361408	13361408	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccaagacgccgaccgtgtaTgtgatgaagctgggccaccc	9	7	12	13	3	0	3	0	2	0	1	1	4	1	3	5	1	1	2	5	1	3	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:13361408T>C	ENST00000254508.5	-	37	5320	c.5238A>G	c.(5236-5238)acA>acG	p.T1746T		NM_024923.2	NP_079199.2	Q8TEM1	PO210_HUMAN	nucleoporin 210kDa	1746					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)				NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	66	all_neural(104;0.187)					CGACCGTGTATGTGATGAAGC	0.617																																						ENST00000254508.5																			0				NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	66						c.(5236-5238)acA>acG		nucleoporin 210kDa							57	60	59					3																	13361408		2203	4300	6503	SO:0001819	synonymous_variant	23225				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore		g.chr3:13361408T>C	AB020713	CCDS33704.1	3p25	2008-02-05			ENSG00000132182	ENSG00000132182			30052	protein-coding gene	gene with protein product		607703				2184032, 7504063	Standard	NM_024923		Approved	GP210, POM210, FLJ22389, KIAA0906	uc003bxv.1	Q8TEM1	OTTHUMG00000157268	ENST00000254508.5:c.5238A>G	3.37:g.13361408T>C							p.T1746T	NM_024923.2	NP_079199.2	Q8TEM1	PO210_HUMAN			37	5320	-	all_neural(104;0.187)		1746					A6NN56|O94980|Q6NXG6|Q8NBJ1|Q9H6C8|Q9UFP3	Silent	SNP	ENST00000254508.5	37	c.5238A>G	CCDS33704.1																																																																																				0.617	NUP210-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340085.1	NM_024923		15	28	0	0	0	1	0	15	28					C	13361408	T	C	13361408	2	2	435	1	0	0	0	0	0	0	0	1	10760	1451	51	4		4	NUP210	3	13361408	Silent	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	492314	13361408	184661022	1669	22594											
NUP210	23225	broad.mit.edu	37	chr3	13377070	13377070	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccttttacccggccgagcaCgttcatggcaaagttgtact	8	11	10	12	3	1	0	1	0	0	0	1	1	1	0	3	2	3	5	3	2	3	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:13377070C>T	ENST00000254508.5	-	28	3809	c.3727G>A	c.(3727-3729)Gtg>Atg	p.V1243M	NUP210_ENST00000485755.1_5'Flank	NM_024923.2	NP_079199.2	Q8TEM1	PO210_HUMAN	nucleoporin 210kDa	1243					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)				NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	66	all_neural(104;0.187)					CGGCCGAGCACGTTCATGGCA	0.602																																						ENST00000254508.5																			0				NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	66						c.(3727-3729)Gtg>Atg		nucleoporin 210kDa							81	77	79					3																	13377070		2203	4300	6503	SO:0001583	missense	23225				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore		g.chr3:13377070C>T	AB020713	CCDS33704.1	3p25	2008-02-05			ENSG00000132182	ENSG00000132182			30052	protein-coding gene	gene with protein product		607703				2184032, 7504063	Standard	NM_024923		Approved	GP210, POM210, FLJ22389, KIAA0906	uc003bxv.1	Q8TEM1	OTTHUMG00000157268	ENST00000254508.5:c.3727G>A	3.37:g.13377070C>T	ENSP00000254508:p.Val1243Met						p.V1243M	NM_024923.2	NP_079199.2	Q8TEM1	PO210_HUMAN			28	3809	-	all_neural(104;0.187)		1243					A6NN56|O94980|Q6NXG6|Q8NBJ1|Q9H6C8|Q9UFP3	Missense_Mutation	SNP	ENST00000254508.5	37	c.3727G>A	CCDS33704.1	.	.	.	.	.	.	.	.	.	.	C	17.06	3.291743	0.59976	.	.	ENSG00000132182	ENST00000254508	T	0.10099	2.91	5.28	4.4	0.53042	.	0.000000	0.85682	D	0.000000	T	0.34424	0.0897	M	0.82056	2.57	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	T	0.14531	-1.0469	10	0.49607	T	0.09	.	14.1718	0.65514	0.0:0.9277:0.0:0.0723	.	1243	Q8TEM1	PO210_HUMAN	M	1243	ENSP00000254508:V1243M	ENSP00000254508:V1243M	V	-	1	0	NUP210	13352070	0.997000	0.39634	0.853000	0.33588	0.280000	0.26924	3.572000	0.53849	1.350000	0.45770	0.655000	0.94253	GTG		0.602	NUP210-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340085.1	NM_024923		3	23	0	0	0	1	0	3	23					T	13377070	C	T	13377070	3	4	435	1	0	0	0	0	1	0	0	0	10760	536	19	1	1988	1	NUP210	3	13377070	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	15662	13377070	184645360	1670	22595											
NUP210	23225	broad.mit.edu	37	chr3	13381471	13381471	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcagcgctcaccagcgcaacGctctcattgctgatggagaa	10	7	11	13	3	2	2	2	1	1	1	3	3	2	2	1	1	4	5	1	1	2	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:13381471G>A	ENST00000254508.5	-	25	3436	c.3354C>T	c.(3352-3354)agC>agT	p.S1118S	NUP210_ENST00000485755.1_5'UTR	NM_024923.2	NP_079199.2	Q8TEM1	PO210_HUMAN	nucleoporin 210kDa	1118					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)				NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	66	all_neural(104;0.187)					CCAGCGCAACGCTCTCATTGC	0.652																																						ENST00000254508.5																			0				NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	66						c.(3352-3354)agC>agT		nucleoporin 210kDa							111	118	115					3																	13381471		2203	4300	6503	SO:0001819	synonymous_variant	23225				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore		g.chr3:13381471G>A	AB020713	CCDS33704.1	3p25	2008-02-05			ENSG00000132182	ENSG00000132182			30052	protein-coding gene	gene with protein product		607703				2184032, 7504063	Standard	NM_024923		Approved	GP210, POM210, FLJ22389, KIAA0906	uc003bxv.1	Q8TEM1	OTTHUMG00000157268	ENST00000254508.5:c.3354C>T	3.37:g.13381471G>A						NUP210_ENST00000485755.1_5'UTR	p.S1118S	NM_024923.2	NP_079199.2	Q8TEM1	PO210_HUMAN			25	3436	-	all_neural(104;0.187)		1118					A6NN56|O94980|Q6NXG6|Q8NBJ1|Q9H6C8|Q9UFP3	Silent	SNP	ENST00000254508.5	37	c.3354C>T	CCDS33704.1																																																																																				0.652	NUP210-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340085.1	NM_024923		39	47	0	0	0	1	0	39	47					A	13381471	G	A	13381471	2	1	435	1	0	0	0	0	0	0	0	1	10760	1078	38	1		1	NUP210	3	13381471	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	4401	13381471	184640959	1671	22596											
NUP210	23225	broad.mit.edu	37	chr3	13413477	13413477	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctccagggcctggcccacaCgtgcctccacctggcacggg	5	5	13	18	2	0	0	0	0	0	0	2	0	2	0	6	4	1	2	6	4	0	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:13413477C>T	ENST00000254508.5	-	13	1725	c.1643G>A	c.(1642-1644)cGt>cAt	p.R548H		NM_024923.2	NP_079199.2	Q8TEM1	PO210_HUMAN	nucleoporin 210kDa	548					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)				NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	66	all_neural(104;0.187)					CTGGCCCACACGTGCCTCCAC	0.652																																						ENST00000254508.5																			0				NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	66						c.(1642-1644)cGt>cAt		nucleoporin 210kDa							27	22	24					3																	13413477		2202	4300	6502	SO:0001583	missense	23225				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore		g.chr3:13413477C>T	AB020713	CCDS33704.1	3p25	2008-02-05			ENSG00000132182	ENSG00000132182			30052	protein-coding gene	gene with protein product		607703				2184032, 7504063	Standard	NM_024923		Approved	GP210, POM210, FLJ22389, KIAA0906	uc003bxv.1	Q8TEM1	OTTHUMG00000157268	ENST00000254508.5:c.1643G>A	3.37:g.13413477C>T	ENSP00000254508:p.Arg548His						p.R548H	NM_024923.2	NP_079199.2	Q8TEM1	PO210_HUMAN			13	1725	-	all_neural(104;0.187)		548					A6NN56|O94980|Q6NXG6|Q8NBJ1|Q9H6C8|Q9UFP3	Missense_Mutation	SNP	ENST00000254508.5	37	c.1643G>A	CCDS33704.1	.	.	.	.	.	.	.	.	.	.	C	11.43	1.637705	0.29157	.	.	ENSG00000132182	ENST00000254508	T	0.05025	3.51	5.86	3.1	0.35709	.	0.120350	0.53938	D	0.000043	T	0.07324	0.0185	M	0.72479	2.2	0.19300	N	0.99998	B;B	0.34255	0.445;0.179	B;B	0.25140	0.058;0.019	T	0.25293	-1.0136	10	0.45353	T	0.12	-1.7756	7.4716	0.27353	0.0:0.6397:0.1153:0.245	.	548;548	Q8TEM1-2;Q8TEM1	.;PO210_HUMAN	H	548	ENSP00000254508:R548H	ENSP00000254508:R548H	R	-	2	0	NUP210	13388477	0.779000	0.28652	0.001000	0.08648	0.587000	0.36485	2.082000	0.41605	0.383000	0.24910	0.655000	0.94253	CGT		0.652	NUP210-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340085.1	NM_024923		3	2	0	0	0	1	0	3	2					T	13413477	C	T	13413477	3	4	435	1	0	0	0	0	1	0	0	0	10760	536	19	1	4132	1	NUP210	3	13413477	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	32006	13413477	184608953	1672	22597											
NUP210	23225	broad.mit.edu	37	chr3	13418955	13418955	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggacctgaacaggcactcaCgtcagatacatagaccttgt	13	8	9	11	1	2	3	2	1	0	2	2	4	2	4	2	2	2	1	2	2	3	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:13418955C>T	ENST00000254508.5	-	9	1235		c.e9+1			NM_024923.2	NP_079199.2	Q8TEM1	PO210_HUMAN	nucleoporin 210kDa						carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)				NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	66	all_neural(104;0.187)					CAGGCACTCACGTCAGATACA	0.572																																						ENST00000254508.5																			0				NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	66						c.e9+1		nucleoporin 210kDa							162	152	155					3																	13418955		2203	4300	6503	SO:0001630	splice_region_variant	23225				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore		g.chr3:13418955C>T	AB020713	CCDS33704.1	3p25	2008-02-05			ENSG00000132182	ENSG00000132182			30052	protein-coding gene	gene with protein product		607703				2184032, 7504063	Standard	NM_024923		Approved	GP210, POM210, FLJ22389, KIAA0906	uc003bxv.1	Q8TEM1	OTTHUMG00000157268	ENST00000254508.5:c.1152+1G>A	3.37:g.13418955C>T								NM_024923.2	NP_079199.2	Q8TEM1	PO210_HUMAN			9	1235	-	all_neural(104;0.187)							A6NN56|O94980|Q6NXG6|Q8NBJ1|Q9H6C8|Q9UFP3	Splice_Site	SNP	ENST00000254508.5	37		CCDS33704.1	.	.	.	.	.	.	.	.	.	.	C	12.75	2.032226	0.35893	.	.	ENSG00000132182	ENST00000254508	.	.	.	4.93	4.93	0.64822	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.7373	0.88397	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	NUP210	13393955	1.000000	0.71417	0.953000	0.39169	0.010000	0.07245	7.246000	0.78247	2.280000	0.76307	0.591000	0.81541	.		0.572	NUP210-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340085.1	NM_024923	Intron	46	77	0	0	0	1	0	46	77					T	13418955	C	T	13418955	5	4	435	1	0	0	0	0	0	0	1	0	10760	550	19	1	4638	1	NUP210	3	13418955	Splice_Site	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	5478	13418955	184603475	1673	22598											
WNT7A	7476	broad.mit.edu	37	chr3	13860467	13860467	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcacgtgtacatctccgtgcGctcgctgcacgtgttgcact	5	11	11	14	5	1	0	0	0	1	0	3	0	1	0	1	0	4	7	1	0	1	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:13860467G>A	ENST00000285018.4	-	4	1328	c.1024C>T	c.(1024-1026)Cgc>Tgc	p.R342C		NM_004625.3	NP_004616.2	O00755	WNT7A_HUMAN	wingless-type MMTV integration site family, member 7A	342					asymmetric protein localization (GO:0008105)|canonical Wnt signaling pathway (GO:0060070)|cartilage condensation (GO:0001502)|cell fate commitment (GO:0045165)|cell proliferation in forebrain (GO:0021846)|cellular response to transforming growth factor beta stimulus (GO:0071560)|central nervous system vasculogenesis (GO:0022009)|cerebellar granule cell differentiation (GO:0021707)|chondrocyte differentiation (GO:0002062)|dorsal/ventral pattern formation (GO:0009953)|embryonic axis specification (GO:0000578)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|establishment of cell polarity (GO:0030010)|lens fiber cell development (GO:0070307)|negative regulation of apoptotic process (GO:0043066)|negative regulation of neurogenesis (GO:0050768)|neuron differentiation (GO:0030182)|neurotransmitter secretion (GO:0007269)|non-canonical Wnt signaling pathway (GO:0035567)|oviduct development (GO:0060066)|palate development (GO:0060021)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of epithelial cell proliferation involved in wound healing (GO:0060054)|positive regulation of JNK cascade (GO:0046330)|positive regulation of synapse assembly (GO:0051965)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of axon diameter (GO:0031133)|response to estradiol (GO:0032355)|sex differentiation (GO:0007548)|skeletal muscle satellite cell activation (GO:0014719)|skeletal muscle satellite cell maintenance involved in skeletal muscle regeneration (GO:0014834)|somatic stem cell division (GO:0048103)|somatic stem cell maintenance (GO:0035019)|stem cell development (GO:0048864)|synapse organization (GO:0050808)|uterus morphogenesis (GO:0061038)|Wnt signaling pathway involved in wound healing, spreading of epidermal cells (GO:0035659)	cell surface (GO:0009986)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	cytokine activity (GO:0005125)|frizzled binding (GO:0005109)|receptor agonist activity (GO:0048018)|receptor binding (GO:0005102)			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	24						ATCTCCGTGCGCTCGCTGCAC	0.607																																						ENST00000285018.4																			0				NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	24						c.(1024-1026)Cgc>Tgc		wingless-type MMTV integration site family, member 7A							54	43	47					3																	13860467		2203	4300	6503	SO:0001583	missense	7476				activation of JUN kinase activity|anterior/posterior pattern formation|canonical Wnt receptor signaling pathway|cell proliferation in forebrain|cellular response to transforming growth factor beta stimulus|central nervous system vasculogenesis|cerebellar granule cell differentiation|dorsal/ventral pattern formation|embryonic axis specification|embryonic digit morphogenesis|embryonic forelimb morphogenesis|embryonic leg morphogenesis|lens fiber cell development|negative regulation of neurogenesis|palate development|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of JNK cascade|positive regulation of synaptogenesis|positive regulation of transcription from RNA polymerase II promoter|regulation of axon diameter|satellite cell activation|satellite cell maintenance involved in skeletal muscle regeneration|sex differentiation|uterus development|Wnt receptor signaling pathway involved in wound healing, spreading of epidermal cells|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	cytokine activity|frizzled binding|receptor agonist activity|signal transducer activity	g.chr3:13860467G>A	D83175	CCDS2616.1	3p25	2008-07-18			ENSG00000154764	ENSG00000154764		"Wingless-type MMTV integration sites"	12786	protein-coding gene	gene with protein product	"proto-oncogene Wnt7a protein"	601570				8893824, 9161407	Standard	NM_004625		Approved		uc003bye.1	O00755	OTTHUMG00000129803	ENST00000285018.4:c.1024C>T	3.37:g.13860467G>A	ENSP00000285018:p.Arg342Cys						p.R342C	NM_004625.3	NP_004616.2	O00755	WNT7A_HUMAN			4	1328	-			342					Q96H90|Q9Y560	Missense_Mutation	SNP	ENST00000285018.4	37	c.1024C>T	CCDS2616.1	.	.	.	.	.	.	.	.	.	.	G	15.92	2.976027	0.53720	.	.	ENSG00000154764	ENST00000285018	T	0.77098	-1.07	4.46	3.51	0.40186	.	0.054174	0.64402	D	0.000001	D	0.88047	0.6332	M	0.89478	3.035	0.80722	D	1	D	0.89917	1.0	D	0.72338	0.977	D	0.88947	0.3384	10	0.51188	T	0.08	.	11.7024	0.51579	0.0:0.0:0.6736:0.3264	.	342	O00755	WNT7A_HUMAN	C	342	ENSP00000285018:R342C	ENSP00000285018:R342C	R	-	1	0	WNT7A	13835468	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.130000	0.50508	2.015000	0.59207	0.563000	0.77884	CGC		0.607	WNT7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252031.2	NM_004625		12	23	0	0	0	1	0	12	23					A	13860467	G	A	13860467	3	1	435	1	0	0	0	0	1	0	0	0	17391	1087	38	1	29	1	WNT7A	3	13860467	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	441512	13860467	184161963	1674	22599											
WNT7A	7476	broad.mit.edu	37	chr3	13896129	13896129	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tggcgaagccgatgccgtagCggatgtcggcagagcagcca	9	5	16	11	5	0	1	0	0	0	1	1	4	0	2	3	3	5	3	3	3	2	1	rs199592697		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:13896129C>T	ENST00000285018.4	-	3	774	c.470G>A	c.(469-471)cGc>cAc	p.R157H		NM_004625.3	NP_004616.2	O00755	WNT7A_HUMAN	wingless-type MMTV integration site family, member 7A	157					asymmetric protein localization (GO:0008105)|canonical Wnt signaling pathway (GO:0060070)|cartilage condensation (GO:0001502)|cell fate commitment (GO:0045165)|cell proliferation in forebrain (GO:0021846)|cellular response to transforming growth factor beta stimulus (GO:0071560)|central nervous system vasculogenesis (GO:0022009)|cerebellar granule cell differentiation (GO:0021707)|chondrocyte differentiation (GO:0002062)|dorsal/ventral pattern formation (GO:0009953)|embryonic axis specification (GO:0000578)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|establishment of cell polarity (GO:0030010)|lens fiber cell development (GO:0070307)|negative regulation of apoptotic process (GO:0043066)|negative regulation of neurogenesis (GO:0050768)|neuron differentiation (GO:0030182)|neurotransmitter secretion (GO:0007269)|non-canonical Wnt signaling pathway (GO:0035567)|oviduct development (GO:0060066)|palate development (GO:0060021)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of epithelial cell proliferation involved in wound healing (GO:0060054)|positive regulation of JNK cascade (GO:0046330)|positive regulation of synapse assembly (GO:0051965)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of axon diameter (GO:0031133)|response to estradiol (GO:0032355)|sex differentiation (GO:0007548)|skeletal muscle satellite cell activation (GO:0014719)|skeletal muscle satellite cell maintenance involved in skeletal muscle regeneration (GO:0014834)|somatic stem cell division (GO:0048103)|somatic stem cell maintenance (GO:0035019)|stem cell development (GO:0048864)|synapse organization (GO:0050808)|uterus morphogenesis (GO:0061038)|Wnt signaling pathway involved in wound healing, spreading of epidermal cells (GO:0035659)	cell surface (GO:0009986)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	cytokine activity (GO:0005125)|frizzled binding (GO:0005109)|receptor agonist activity (GO:0048018)|receptor binding (GO:0005102)			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	24						GATGCCGTAGCGGATGTCGGC	0.607													C|||	1	0.000199681	0	0	5008	,	,		19286	0		0	False		,,,				2504	0.001					ENST00000285018.4																			0				NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	24						c.(469-471)cGc>cAc		wingless-type MMTV integration site family, member 7A							110	111	110					3																	13896129		2203	4300	6503	SO:0001583	missense	7476				activation of JUN kinase activity|anterior/posterior pattern formation|canonical Wnt receptor signaling pathway|cell proliferation in forebrain|cellular response to transforming growth factor beta stimulus|central nervous system vasculogenesis|cerebellar granule cell differentiation|dorsal/ventral pattern formation|embryonic axis specification|embryonic digit morphogenesis|embryonic forelimb morphogenesis|embryonic leg morphogenesis|lens fiber cell development|negative regulation of neurogenesis|palate development|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of JNK cascade|positive regulation of synaptogenesis|positive regulation of transcription from RNA polymerase II promoter|regulation of axon diameter|satellite cell activation|satellite cell maintenance involved in skeletal muscle regeneration|sex differentiation|uterus development|Wnt receptor signaling pathway involved in wound healing, spreading of epidermal cells|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	cytokine activity|frizzled binding|receptor agonist activity|signal transducer activity	g.chr3:13896129C>T	D83175	CCDS2616.1	3p25	2008-07-18			ENSG00000154764	ENSG00000154764		"Wingless-type MMTV integration sites"	12786	protein-coding gene	gene with protein product	"proto-oncogene Wnt7a protein"	601570				8893824, 9161407	Standard	NM_004625		Approved		uc003bye.1	O00755	OTTHUMG00000129803	ENST00000285018.4:c.470G>A	3.37:g.13896129C>T	ENSP00000285018:p.Arg157His						p.R157H	NM_004625.3	NP_004616.2	O00755	WNT7A_HUMAN			3	774	-			157					Q96H90|Q9Y560	Missense_Mutation	SNP	ENST00000285018.4	37	c.470G>A	CCDS2616.1	.	.	.	.	.	.	.	.	.	.	C	14.73	2.621202	0.46736	.	.	ENSG00000154764	ENST00000285018	T	0.76060	-0.99	5.38	5.38	0.77491	.	0.241893	0.42053	D	0.000768	T	0.64450	0.2599	L	0.35793	1.09	0.48901	D	0.999726	B	0.22800	0.075	B	0.21546	0.035	T	0.59663	-0.7412	10	0.29301	T	0.29	.	12.4819	0.55847	0.0:0.9239:0.0:0.0761	.	157	O00755	WNT7A_HUMAN	H	157	ENSP00000285018:R157H	ENSP00000285018:R157H	R	-	2	0	WNT7A	13871130	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.659000	0.46741	2.528000	0.85240	0.561000	0.74099	CGC		0.607	WNT7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252031.2	NM_004625		4	102	0	0	0	1	0	4	102					T	13896129	C	T	13896129	3	4	435	1	0	0	0	0	1	0	0	0	17391	768	27	1	587	1	WNT7A	3	13896129	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	35662	13896129	184126301	1675	22600											
WNT7A	7476	broad.mit.edu	37	chr3	13916637	13916637	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gggatcttgttacagatgatGcttgcgcccagagctaccac	9	10	11	11	1	1	3	0	1	1	2	1	4	1	4	2	1	5	3	2	1	2	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:13916637G>A	ENST00000285018.4	-	2	409	c.105C>T	c.(103-105)agC>agT	p.S35S	WNT7A_ENST00000497808.1_5'UTR	NM_004625.3	NP_004616.2	O00755	WNT7A_HUMAN	wingless-type MMTV integration site family, member 7A	35				S -> T (in Ref. 1; AAC51319). {ECO:0000305}.	asymmetric protein localization (GO:0008105)|canonical Wnt signaling pathway (GO:0060070)|cartilage condensation (GO:0001502)|cell fate commitment (GO:0045165)|cell proliferation in forebrain (GO:0021846)|cellular response to transforming growth factor beta stimulus (GO:0071560)|central nervous system vasculogenesis (GO:0022009)|cerebellar granule cell differentiation (GO:0021707)|chondrocyte differentiation (GO:0002062)|dorsal/ventral pattern formation (GO:0009953)|embryonic axis specification (GO:0000578)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|establishment of cell polarity (GO:0030010)|lens fiber cell development (GO:0070307)|negative regulation of apoptotic process (GO:0043066)|negative regulation of neurogenesis (GO:0050768)|neuron differentiation (GO:0030182)|neurotransmitter secretion (GO:0007269)|non-canonical Wnt signaling pathway (GO:0035567)|oviduct development (GO:0060066)|palate development (GO:0060021)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of epithelial cell proliferation involved in wound healing (GO:0060054)|positive regulation of JNK cascade (GO:0046330)|positive regulation of synapse assembly (GO:0051965)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of axon diameter (GO:0031133)|response to estradiol (GO:0032355)|sex differentiation (GO:0007548)|skeletal muscle satellite cell activation (GO:0014719)|skeletal muscle satellite cell maintenance involved in skeletal muscle regeneration (GO:0014834)|somatic stem cell division (GO:0048103)|somatic stem cell maintenance (GO:0035019)|stem cell development (GO:0048864)|synapse organization (GO:0050808)|uterus morphogenesis (GO:0061038)|Wnt signaling pathway involved in wound healing, spreading of epidermal cells (GO:0035659)	cell surface (GO:0009986)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	cytokine activity (GO:0005125)|frizzled binding (GO:0005109)|receptor agonist activity (GO:0048018)|receptor binding (GO:0005102)			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	24						TACAGATGATGCTTGCGCCCA	0.602																																						ENST00000285018.4																			0				NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	24						c.(103-105)agC>agT		wingless-type MMTV integration site family, member 7A							40	41	41					3																	13916637		2203	4300	6503	SO:0001819	synonymous_variant	7476				activation of JUN kinase activity|anterior/posterior pattern formation|canonical Wnt receptor signaling pathway|cell proliferation in forebrain|cellular response to transforming growth factor beta stimulus|central nervous system vasculogenesis|cerebellar granule cell differentiation|dorsal/ventral pattern formation|embryonic axis specification|embryonic digit morphogenesis|embryonic forelimb morphogenesis|embryonic leg morphogenesis|lens fiber cell development|negative regulation of neurogenesis|palate development|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of JNK cascade|positive regulation of synaptogenesis|positive regulation of transcription from RNA polymerase II promoter|regulation of axon diameter|satellite cell activation|satellite cell maintenance involved in skeletal muscle regeneration|sex differentiation|uterus development|Wnt receptor signaling pathway involved in wound healing, spreading of epidermal cells|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	cytokine activity|frizzled binding|receptor agonist activity|signal transducer activity	g.chr3:13916637G>A	D83175	CCDS2616.1	3p25	2008-07-18			ENSG00000154764	ENSG00000154764		"Wingless-type MMTV integration sites"	12786	protein-coding gene	gene with protein product	"proto-oncogene Wnt7a protein"	601570				8893824, 9161407	Standard	NM_004625		Approved		uc003bye.1	O00755	OTTHUMG00000129803	ENST00000285018.4:c.105C>T	3.37:g.13916637G>A						WNT7A_ENST00000497808.1_5'UTR	p.S35S	NM_004625.3	NP_004616.2	O00755	WNT7A_HUMAN			2	409	-			35	S -> T (in Ref. 1; AAC51319).				Q96H90|Q9Y560	Silent	SNP	ENST00000285018.4	37	c.105C>T	CCDS2616.1																																																																																				0.602	WNT7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252031.2	NM_004625		10	15	0	0	0	1	0	10	15					A	13916637	G	A	13916637	2	1	435	1	0	0	0	0	0	0	0	1	17391	1310	46	3		3	WNT7A	3	13916637	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	20508	13916637	184105793	1676	22601											
XPC	7508	broad.mit.edu	37	chr3	14214486	14214486	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gctgaacccccaggatgactGcagcctcttttcctctttcc	6	12	7	16	0	2	2	0	2	2	0	4	3	4	3	5	1	3	2	5	1	1	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:14214486G>A	ENST00000285021.7	-	2	394	c.180C>T	c.(178-180)tgC>tgT	p.C60C	XPC_ENST00000449060.2_Silent_p.C60C	NM_001145769.1|NM_004628.4	NP_001139241.1|NP_004619.3	Q01831	XPC_HUMAN	xeroderma pigmentosum, complementation group C	60	Glu-rich (acidic).				DNA repair (GO:0006281)|intra-S DNA damage checkpoint (GO:0031573)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage recognition (GO:0000715)|nucleotide-excision repair, DNA damage removal (GO:0000718)|regulation of mitotic cell cycle phase transition (GO:1901990)|response to drug (GO:0042493)|response to UV-B (GO:0010224)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|XPC complex (GO:0071942)	bubble DNA binding (GO:0000405)|damaged DNA binding (GO:0003684)|heteroduplex DNA loop binding (GO:0000404)|single-stranded DNA binding (GO:0003697)			NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						CAGGATGACTGCAGCCTCTTT	0.448			"Mis, N, F, S"			"skin basal cell, skin squamous cell, melanoma"		Nucleotide excision repair (NER)	Xeroderma Pigmentosum																													ENST00000285021.7			yes	Rec		Xeroderma pigmentosum (C)	3	3p25	7508	"Mis, N, F, S"	"xeroderma pigmentosum, complementation group C"			E		"skin basal cell, skin squamous cell, melanoma"			0				NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						c.(178-180)tgC>tgT	Nucleotide excision repair (NER)	xeroderma pigmentosum, complementation group C							95	89	91					3																	14214486		1874	4107	5981	SO:0001819	synonymous_variant	7508	Xeroderma Pigmentosum	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV	nucleotide-excision repair, DNA damage recognition|nucleotide-excision repair, DNA damage removal	cytoplasm|nucleoplasm|XPC complex	bubble DNA binding|damaged DNA binding|loop DNA binding|protein binding|single-stranded DNA binding	g.chr3:14214486G>A		CCDS46763.1	3p25.1	2014-09-17			ENSG00000154767	ENSG00000154767			12816	protein-coding gene	gene with protein product	"xeroderma pigmentosum group C protein"	613208				1522891	Standard	NM_004628		Approved	XPCC, RAD4	uc011ave.2	Q01831	OTTHUMG00000155526	ENST00000285021.7:c.180C>T	3.37:g.14214486G>A						XPC_ENST00000449060.2_Silent_p.C60C	p.C60C	NM_001145769.1|NM_004628.4	NP_001139241.1|NP_004619.3	Q01831	XPC_HUMAN			2	394	-			60			Glu-rich (acidic).		B4DIP3|E9PB96|E9PH69|Q53GT7|Q96AX0	Silent	SNP	ENST00000285021.7	37	c.180C>T	CCDS46763.1																																																																																				0.448	XPC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000340517.3	NM_004628		7	15	0	0	0	1	0	7	15					A	14214486	G	A	14214486	2	1	435	1	0	0	0	0	0	0	0	1	17438	1311	46	3		3	XPC	3	14214486	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	297849	14214486	183807944	1677	22602											
LSM3	27258	broad.mit.edu	37	chr3	14225447	14225447	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccactttaggcttatgatcAacatttaaatatgatcttgg	12	15	6	8	0	2	2	1	2	1	0	2	2	2	2	1	2	1	1	1	2	6	7			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:14225447A>G	ENST00000306024.3	+	3	646	c.143A>G	c.(142-144)cAa>cGa	p.Q48R		NM_014463.2	NP_055278.1	P62310	LSM3_HUMAN	LSM3 homolog, U6 small nuclear RNA associated (S. cerevisiae)	48					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)	catalytic step 2 spliceosome (GO:0071013)|cytosol (GO:0005829)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|large_intestine(2)|ovary(1)	4						GCTTATGATCAACATTTAAAT	0.294																																						ENST00000306024.3																			0				central_nervous_system(1)|large_intestine(2)|ovary(1)	4						c.(142-144)cAa>cGa		LSM3 homolog, U6 small nuclear RNA associated (S. cerevisiae)							90	87	88					3																	14225447		2203	4298	6501	SO:0001583	missense	27258				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	catalytic step 2 spliceosome|cytosol	protein binding|RNA binding	g.chr3:14225447A>G	AF182289	CCDS2619.1	3p25.1	2012-08-15			ENSG00000170860	ENSG00000170860			17874	protein-coding gene	gene with protein product		607283				10369684	Standard	NM_014463		Approved	YLR438C, SMX4, USS2	uc003byn.3	P62310	OTTHUMG00000129838	ENST00000306024.3:c.143A>G	3.37:g.14225447A>G	ENSP00000302160:p.Gln48Arg						p.Q48R	NM_014463.2	NP_055278.1	P62310	LSM3_HUMAN			3	646	+			48					Q6IAH0|Q9Y4Z1	Missense_Mutation	SNP	ENST00000306024.3	37	c.143A>G	CCDS2619.1	.	.	.	.	.	.	.	.	.	.	A	22.2	4.261981	0.80358	.	.	ENSG00000170860	ENST00000306024	T	0.45668	0.89	5.36	5.36	0.76844	Like-Sm ribonucleoprotein (LSM) domain, eukaryotic/archaea-type (1);Like-Sm ribonucleoprotein (LSM) domain (1);Like-Sm ribonucleoprotein (LSM)-related domain (1);	0.000000	0.85682	D	0.000000	T	0.57403	0.2051	M	0.67700	2.07	0.80722	D	1	D	0.63046	0.992	D	0.70016	0.967	T	0.55860	-0.8074	10	0.06625	T	0.88	-3.686	15.3112	0.74035	1.0:0.0:0.0:0.0	.	48	P62310	LSM3_HUMAN	R	48	ENSP00000302160:Q48R	ENSP00000302160:Q48R	Q	+	2	0	LSM3	14200451	1.000000	0.71417	0.992000	0.48379	0.983000	0.72400	8.367000	0.90113	2.158000	0.67659	0.533000	0.62120	CAA		0.294	LSM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252078.3	NM_014463		10	67	0	0	0	1	0	10	67					G	14225447	A	G	14225447	3	3	435	1	0	0	0	0	1	0	0	0	9057	130	5	4	153	4	LSM3	3	14225447	Missense_Mutation	SNP	A	TCGA-XK-AAIW-01A-11D-A41K-08	10961	14225447	183796983	1678	22603											
SLC6A6	6533	broad.mit.edu	37	chr3	14489255	14489255	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgcatggaggacaccatgcGcaagaacaagagtgtctgga	13	6	13	9	1	1	2	0	0	1	2	1	5	1	5	1	3	3	2	1	3	3	0	rs554039615		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:14489255G>A	ENST00000454876.2	+	5	859	c.530G>A	c.(529-531)cGc>cAc	p.R177H	SLC6A6_ENST00000416216.2_Missense_Mutation_p.R177H|SLC6A6_ENST00000484191.1_3'UTR|SLC6A6_ENST00000360861.3_Missense_Mutation_p.R177H			P31641	SC6A6_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 6	177					amino acid transport (GO:0006865)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|taurine transport (GO:0015734)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neurotransmitter:sodium symporter activity (GO:0005328)|taurine binding (GO:0030977)|taurine:sodium symporter activity (GO:0005369)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(2)	28						GACACCATGCGCAAGAACAAG	0.557													G|||	1	0.000199681	8e-04	0	5008	,	,		22711	0		0	False		,,,				2504	0					ENST00000454876.2																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(2)	28						c.(529-531)cGc>cAc		solute carrier family 6 (neurotransmitter transporter), member 6							216	159	178					3																	14489255		2203	4300	6503	SO:0001583	missense	6533				cellular amino acid metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity|taurine:sodium symporter activity	g.chr3:14489255G>A		CCDS33705.1, CCDS46765.1	3p25.1	2013-07-19	2013-07-19		ENSG00000131389	ENSG00000131389		"Solute carriers"	11052	protein-coding gene	gene with protein product	"taurine transporter"	186854	"solute carrier family 6 (neurotransmitter transporter, taurine), member 6"			8010975, 8382624	Standard	XM_006713307		Approved	TAUT	uc010heg.4	P31641	OTTHUMG00000155525	ENST00000454876.2:c.530G>A	3.37:g.14489255G>A	ENSP00000398063:p.Arg177His					SLC6A6_ENST00000416216.2_Missense_Mutation_p.R177H|SLC6A6_ENST00000484191.1_3'UTR|SLC6A6_ENST00000360861.3_Missense_Mutation_p.R177H	p.R177H			P31641	SC6A6_HUMAN			5	859	+			177					B2RNU7|Q9BRI2|Q9BXB0	Missense_Mutation	SNP	ENST00000454876.2	37	c.530G>A	CCDS33705.1	.	.	.	.	.	.	.	.	.	.	G	16.91	3.251919	0.59212	.	.	ENSG00000131389	ENST00000454876;ENST00000360861;ENST00000416216	T;T;T	0.74632	-0.86;-0.86;-0.86	4.59	4.59	0.56863	.	0.054246	0.64402	D	0.000002	T	0.68366	0.2993	L	0.41356	1.27	0.80722	D	1	B	0.13594	0.008	B	0.13407	0.009	T	0.65705	-0.6103	10	0.46703	T	0.11	.	17.775	0.88504	0.0:0.0:1.0:0.0	.	177	P31641	SC6A6_HUMAN	H	177	ENSP00000398063:R177H;ENSP00000354107:R177H;ENSP00000401167:R177H	ENSP00000354107:R177H	R	+	2	0	SLC6A6	14464259	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	9.612000	0.98347	2.268000	0.75426	0.404000	0.27445	CGC		0.557	SLC6A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340507.1	NM_003043		32	50	0	0	0	1	0	32	50					A	14489255	G	A	14489255	3	1	435	1	0	0	0	0	1	0	0	0	14688	1087	38	1	540	1	SLC6A6	3	14489255	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	263808	14489255	183533175	1679	22604											
C3orf19	51244	broad.mit.edu	37	chr3	14695972	14695972	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aactcttccgaaagcaagaaGaattcaaacaagaaaaactt	21	7	5	8	1	2	3	1	0	1	3	3	4	3	3	1	0	4	1	1	0	9	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:14695972G>A	ENST00000383794.3	+	2	155	c.82G>A	c.(82-84)Gaa>Aaa	p.E28K	CCDC174_ENST00000303688.7_Missense_Mutation_p.E28K	NM_016474.4	NP_057558.3	Q6PII3	CC174_HUMAN	coiled-coil domain containing 174	28						cytoplasm (GO:0005737)|nucleus (GO:0005634)											AAAGCAAGAAGAATTCAAACA	0.323																																						ENST00000383794.3																			0											c.(82-84)Gaa>Aaa		coiled-coil domain containing 174							31	31	31					3																	14695972		1778	4050	5828	SO:0001583	missense	51244							g.chr3:14695972G>A	AF151046	CCDS2620.2	3p25.1	2012-09-20	2012-09-20	2012-09-20	ENSG00000154781	ENSG00000154781			28033	protein-coding gene	gene with protein product			"chromosome 3 open reading frame 19"	C3orf19		11042152	Standard	NM_016474		Approved	FLJ33839	uc003byw.3	Q6PII3	OTTHUMG00000129837	ENST00000383794.3:c.82G>A	3.37:g.14695972G>A	ENSP00000373304:p.Glu28Lys					CCDC174_ENST00000303688.7_Missense_Mutation_p.E28K	p.E28K	NM_016474.4	NP_057558.3					2	155	+								Q96CS5	Missense_Mutation	SNP	ENST00000383794.3	37	c.82G>A	CCDS2620.2	.	.	.	.	.	.	.	.	.	.	G	17.67	3.447736	0.63178	.	.	ENSG00000154781	ENST00000383794;ENST00000303688	T;T	0.55413	0.63;0.52	5.38	4.45	0.53987	.	0.126184	0.53938	D	0.000045	T	0.61438	0.2347	M	0.84948	2.725	0.46701	D	0.999168	P	0.50528	0.936	P	0.45037	0.467	T	0.71163	-0.4673	10	0.62326	D	0.03	-18.5116	14.4785	0.67564	0.0:0.1481:0.8519:0.0	.	28	Q6PII3	CC019_HUMAN	K	28	ENSP00000373304:E28K;ENSP00000302344:E28K	ENSP00000302344:E28K	E	+	1	0	C3orf19	14670976	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.533000	0.60615	2.514000	0.84764	0.491000	0.48974	GAA		0.323	CCDC174-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252077.2	NM_016474		8	18	0	0	0	1	0	8	18					A	14695972	G	A	14695972	3	1	435	1	0	0	0	0	1	0	0	0	2212	943	33	3	88	3	C3orf19	3	14695972	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	206717	14695972	183326458	1680	22605											
C3orf20	84077	broad.mit.edu	37	chr3	14756916	14756916	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgctttccctggaatacaaGgtagggatgggcagcacagg	10	8	14	9	0	0	0	0	0	0	0	1	2	1	2	1	5	3	4	1	5	4	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:14756916G>T	ENST00000253697.3	+	9	1886	c.1434G>T	c.(1432-1434)aaG>aaT	p.K478N	C3orf20_ENST00000435614.1_Splice_Site_p.K356N|C3orf20_ENST00000412910.1_Splice_Site_p.K356N|C3orf20_ENST00000495387.1_3'UTR	NM_032137.4	NP_115513.4	Q8ND61	CC020_HUMAN	chromosome 3 open reading frame 20	478						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(13)|lung(11)|ovary(4)|skin(2)	40						TGGAATACAAGGTAGGGATGG	0.577																																						ENST00000253697.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(13)|lung(11)|ovary(4)|skin(2)	40						c.e9+1		chromosome 3 open reading frame 20							97	84	89					3																	14756916		2203	4300	6503	SO:0001630	splice_region_variant	84077					cytoplasm|integral to membrane		g.chr3:14756916G>T	AL136781	CCDS33706.1, CCDS54555.1	3p25.1	2011-01-25			ENSG00000131379	ENSG00000131379			25320	protein-coding gene	gene with protein product						11230166	Standard	NM_032137		Approved	DKFZP434N1817	uc003byy.3	Q8ND61	OTTHUMG00000155545	ENST00000253697.3:c.1434+1G>T	3.37:g.14756916G>T						C3orf20_ENST00000435614.1_Splice_Site_p.K356_splice|C3orf20_ENST00000412910.1_Splice_Site_p.K356_splice|C3orf20_ENST00000495387.1_3'UTR	p.K478_splice	NM_032137.4	NP_115513.4	Q8ND61	CC020_HUMAN			9	1886	+			478					Q7L0U6|Q8NCP2|Q9H0I7	Splice_Site	SNP	ENST00000253697.3	37	c.1434_splice	CCDS33706.1	.	.	.	.	.	.	.	.	.	.	G	19.49	3.837944	0.71373	.	.	ENSG00000131379	ENST00000253697;ENST00000435614;ENST00000412910	T;T;T	0.13420	2.59;2.59;2.59	4.32	4.32	0.51571	.	0.000000	0.46442	D	0.000286	T	0.30727	0.0774	M	0.76574	2.34	0.37564	D	0.919166	D	0.64830	0.994	P	0.57776	0.827	T	0.25641	-1.0126	10	0.66056	D	0.02	-24.7578	12.1764	0.54188	0.0:0.0:1.0:0.0	.	478	Q8ND61	CC020_HUMAN	N	478;356;356	ENSP00000253697:K478N;ENSP00000402933:K356N;ENSP00000396081:K356N	ENSP00000253697:K478N	K	+	3	2	C3orf20	14731920	1.000000	0.71417	1.000000	0.80357	0.776000	0.43924	4.277000	0.58939	2.254000	0.74563	0.591000	0.81541	AAG		0.577	C3orf20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340586.1	NM_032137	Missense_Mutation	11	23	1	0	3.27435e-08	1	3.44876e-08	11	23					T	14756916	G	T	14756916	5	4	435	1	0	0	0	0	0	0	1	0	2213	1014	35	5	1460	5	C3orf20	3	14756916	Splice_Site	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	60944	14756916	183265514	1681	22606											
C3orf20	84077	broad.mit.edu	37	chr3	14768435	14768435	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcagaatcagcaacatggacGacaaggtgtataagatgagc	16	6	12	7	1	1	3	1	1	0	2	1	5	1	4	0	2	3	3	0	2	5	2	rs149516015		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:14768435G>A	ENST00000253697.3	+	11	2046	c.1594G>A	c.(1594-1596)Gac>Aac	p.D532N	C3orf20_ENST00000435614.1_Missense_Mutation_p.D410N|C3orf20_ENST00000412910.1_Missense_Mutation_p.D410N	NM_032137.4	NP_115513.4	Q8ND61	CC020_HUMAN	chromosome 3 open reading frame 20	532						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(13)|lung(11)|ovary(4)|skin(2)	40						CAACATGGACGACAAGGTGTA	0.527																																						ENST00000253697.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(13)|lung(11)|ovary(4)|skin(2)	40						c.(1594-1596)Gac>Aac		chromosome 3 open reading frame 20							105	94	97					3																	14768435		2203	4300	6503	SO:0001583	missense	84077					cytoplasm|integral to membrane		g.chr3:14768435G>A	AL136781	CCDS33706.1, CCDS54555.1	3p25.1	2011-01-25			ENSG00000131379	ENSG00000131379			25320	protein-coding gene	gene with protein product						11230166	Standard	NM_032137		Approved	DKFZP434N1817	uc003byy.3	Q8ND61	OTTHUMG00000155545	ENST00000253697.3:c.1594G>A	3.37:g.14768435G>A	ENSP00000253697:p.Asp532Asn					C3orf20_ENST00000435614.1_Missense_Mutation_p.D410N|C3orf20_ENST00000412910.1_Missense_Mutation_p.D410N	p.D532N	NM_032137.4	NP_115513.4	Q8ND61	CC020_HUMAN			11	2046	+			532					Q7L0U6|Q8NCP2|Q9H0I7	Missense_Mutation	SNP	ENST00000253697.3	37	c.1594G>A	CCDS33706.1	.	.	.	.	.	.	.	.	.	.	G	17.63	3.437693	0.62955	.	.	ENSG00000131379	ENST00000253697;ENST00000435614;ENST00000412910	T;T;T	0.11604	2.76;2.76;2.76	5.05	4.18	0.49190	.	0.984841	0.08282	N	0.969728	T	0.20577	0.0495	L	0.44542	1.39	0.09310	N	1	D;B	0.67145	0.996;0.032	P;B	0.57009	0.811;0.011	T	0.16100	-1.0414	10	0.51188	T	0.08	-4.8256	9.5512	0.39310	0.0953:0.0:0.9047:0.0	.	410;532	Q8ND61-2;Q8ND61	.;CC020_HUMAN	N	532;410;410	ENSP00000253697:D532N;ENSP00000402933:D410N;ENSP00000396081:D410N	ENSP00000253697:D532N	D	+	1	0	C3orf20	14743439	0.984000	0.35163	0.037000	0.18230	0.007000	0.05969	2.867000	0.48428	1.376000	0.46267	-0.333000	0.08304	GAC		0.527	C3orf20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340586.1	NM_032137		16	19	0	0	0	1	0	16	19					A	14768435	G	A	14768435	3	1	435	1	0	0	0	0	1	0	0	0	2213	1058	37	2	1628	2	C3orf20	3	14768435	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	11519	14768435	183253995	1682	22607											
FGD5	152273	broad.mit.edu	37	chr3	14939561	14939561	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtctgctcagtgagaattgcCtccactctccccggctggca	6	10	10	15	1	3	1	1	1	2	1	5	2	4	1	4	2	2	3	4	2	1	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:14939561C>T	ENST00000285046.5	+	6	3135	c.3025C>T	c.(3025-3027)Ctc>Ttc	p.L1009F	FGD5_ENST00000543601.1_Missense_Mutation_p.L768F|FGD5_ENST00000476851.1_3'UTR	NM_152536.3	NP_689749.3	Q6ZNL6	FGD5_HUMAN	FYVE, RhoGEF and PH domain containing 5	1009	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				actin cytoskeleton organization (GO:0030036)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|small GTPase binding (GO:0031267)			NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1)	54						TGAGAATTGCCTCCACTCTCC	0.597																																						ENST00000285046.5																			0				NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1)	54						c.(3025-3027)Ctc>Ttc		FYVE, RhoGEF and PH domain containing 5							98	105	103					3																	14939561		2157	4270	6427	SO:0001583	missense	152273				actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding	g.chr3:14939561C>T	AK097276	CCDS46767.1	3p25.1	2013-01-10			ENSG00000154783	ENSG00000154783		"Zinc fingers, FYVE domain containing", "Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	19117	protein-coding gene	gene with protein product		614788					Standard	NM_152536		Approved	ZFYVE23, FLJ39957, FLJ00274	uc003bzc.3	Q6ZNL6	OTTHUMG00000155556	ENST00000285046.5:c.3025C>T	3.37:g.14939561C>T	ENSP00000285046:p.Leu1009Phe					FGD5_ENST00000543601.1_Missense_Mutation_p.L768F|FGD5_ENST00000476851.1_3'UTR	p.L1009F	NM_152536.3	NP_689749.3	Q6ZNL6	FGD5_HUMAN			6	3135	+			1009			DH.		B3KVQ3|Q6MZY1|Q7Z303|Q8IYP3|Q8N861|Q8N8G4	Missense_Mutation	SNP	ENST00000285046.5	37	c.3025C>T	CCDS46767.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.57|14.57	2.576268|2.576268	0.45902|0.45902	.|.	.|.	ENSG00000154783|ENSG00000154783	ENST00000285046;ENST00000543601|ENST00000457774	T;T|.	0.30448|.	1.53;1.53|.	4.88|4.88	1.58|1.58	0.23477|0.23477	Dbl homology (DH) domain (5);|.	0.294380|.	0.23933|.	N|.	0.043140|.	T|T	0.42268|0.42268	0.1195|0.1195	L|L	0.60455|0.60455	1.87|1.87	0.21499|0.21499	N|N	0.999668|0.999668	P;P|.	0.44627|.	0.839;0.822|.	P;P|.	0.46885|.	0.452;0.53|.	T|T	0.30794|0.30794	-0.9966|-0.9966	10|5	0.56958|.	D|.	0.05|.	-9.8043|-9.8043	6.3669|6.3669	0.21459|0.21459	0.3328:0.5699:0.0:0.0972|0.3328:0.5699:0.0:0.0972	.|.	768;1009|.	B7ZM68;Q6ZNL6|.	.;FGD5_HUMAN|.	F|L	1009;768|192	ENSP00000285046:L1009F;ENSP00000445949:L768F|.	ENSP00000285046:L1009F|.	L|P	+|+	1|2	0|0	FGD5|FGD5	14914565|14914565	0.938000|0.938000	0.31826|0.31826	0.570000|0.570000	0.28473|0.28473	0.789000|0.789000	0.44602|0.44602	1.311000|1.311000	0.33562|0.33562	0.438000|0.438000	0.26450|0.26450	0.591000|0.591000	0.81541|0.81541	CTC|CCT		0.597	FGD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340628.1	NM_152536		37	63	0	0	0	1	0	37	63					T	14939561	C	T	14939561	3	4	435	1	0	0	0	0	1	0	0	0	5836	681	24	3	3047	3	FGD5	3	14939561	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	171126	14939561	183082869	1683	22608											
FGD5	152273	broad.mit.edu	37	chr3	14942551	14942551	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aagtcacagaccgtgccaacGacagcatggagcaaggggtg	13	4	14	10	2	1	1	1	0	0	1	1	3	1	2	2	3	4	2	2	3	3	0	rs183782487	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:14942551G>A	ENST00000285046.5	+	9	3357	c.3247G>A	c.(3247-3249)Gac>Aac	p.D1083N	FGD5_ENST00000543601.1_Missense_Mutation_p.D842N|FGD5_ENST00000476851.1_3'UTR	NM_152536.3	NP_689749.3	Q6ZNL6	FGD5_HUMAN	FYVE, RhoGEF and PH domain containing 5	1083	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				actin cytoskeleton organization (GO:0030036)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|small GTPase binding (GO:0031267)			NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1)	54						CCGTGCCAACGACAGCATGGA	0.622													G|||	7	0.00139776	0.0053	0	5008	,	,		21170	0		0	False		,,,				2504	0					ENST00000285046.5																			0				NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1)	54						c.(3247-3249)Gac>Aac		FYVE, RhoGEF and PH domain containing 5		G	ASN/ASP	16,4196		0,16,2090	111	113	113		3247	5.2	1	3		113	0,8482		0,0,4241	yes	missense	FGD5	NM_152536.3	23	0,16,6331	AA,AG,GG		0.0,0.3799,0.126	benign	1083/1463	14942551	16,12678	2106	4241	6347	SO:0001583	missense	152273				actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding	g.chr3:14942551G>A	AK097276	CCDS46767.1	3p25.1	2013-01-10			ENSG00000154783	ENSG00000154783		"Zinc fingers, FYVE domain containing", "Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	19117	protein-coding gene	gene with protein product		614788					Standard	NM_152536		Approved	ZFYVE23, FLJ39957, FLJ00274	uc003bzc.3	Q6ZNL6	OTTHUMG00000155556	ENST00000285046.5:c.3247G>A	3.37:g.14942551G>A	ENSP00000285046:p.Asp1083Asn					FGD5_ENST00000543601.1_Missense_Mutation_p.D842N|FGD5_ENST00000476851.1_3'UTR	p.D1083N	NM_152536.3	NP_689749.3	Q6ZNL6	FGD5_HUMAN			9	3357	+			1083			DH.		B3KVQ3|Q6MZY1|Q7Z303|Q8IYP3|Q8N861|Q8N8G4	Missense_Mutation	SNP	ENST00000285046.5	37	c.3247G>A	CCDS46767.1	4	0.0018315018315018315	2	0.0040650406504065045	1	0.0027624309392265192	0	0.0	1	0.0013192612137203166	G	21.7	4.185448	0.78677	0.003799	0.0	ENSG00000154783	ENST00000285046;ENST00000543601	T;T	0.32515	1.45;1.45	5.15	5.15	0.70609	Dbl homology (DH) domain (5);	0.308876	0.27631	N	0.018515	T	0.31702	0.0805	L	0.46614	1.455	0.44345	D	0.997234	P;P	0.49961	0.93;0.84	B;B	0.43754	0.43;0.43	T	0.07404	-1.0774	10	0.52906	T	0.07	-29.1155	14.1493	0.65373	0.0:0.0:1.0:0.0	.	842;1083	B7ZM68;Q6ZNL6	.;FGD5_HUMAN	N	1083;842	ENSP00000285046:D1083N;ENSP00000445949:D842N	ENSP00000285046:D1083N	D	+	1	0	FGD5	14917555	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.289000	0.72696	2.397000	0.81536	0.591000	0.81541	GAC		0.622	FGD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340628.1	NM_152536		15	37	0	0	0	1	0	15	37					A	14942551	G	A	14942551	3	1	435	1	0	0	0	0	1	0	0	0	5836	1058	37	2	3281	2	FGD5	3	14942551	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	2990	14942551	183079879	1684	22609											
ZFYVE20	64145	broad.mit.edu	37	chr3	15127455	15127455	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tttttgaagtcggaaagatgGcttctcacagcacctagagg	11	11	11	8	1	1	3	1	1	1	2	3	4	1	4	1	3	1	2	1	3	3	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:15127455G>A	ENST00000253699.3	-	6	916	c.303C>T	c.(301-303)agC>agT	p.S101S	ZFYVE20_ENST00000476527.2_Silent_p.S101S|ZFYVE20_ENST00000435849.3_Silent_p.S101S|ZFYVE20_ENST00000449964.2_5'UTR	NM_022340.2	NP_071735.2	Q9H1K0	RBNS5_HUMAN	zinc finger, FYVE domain containing 20	101	Necessary for the correct targeting to endosomes.				blood coagulation (GO:0007596)|endosomal transport (GO:0016197)|protein transport (GO:0015031)	endosome (GO:0005768)|endosome membrane (GO:0010008)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	zinc ion binding (GO:0008270)			NS(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|skin(3)|stomach(1)|urinary_tract(2)	26						CGGAAAGATGGCTTCTCACAG	0.418																																						ENST00000253699.3																			0				NS(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|skin(3)|stomach(1)|urinary_tract(2)	26						c.(301-303)agC>agT		zinc finger, FYVE domain containing 20							148	158	154					3																	15127455		2203	4300	6503	SO:0001819	synonymous_variant	64145				blood coagulation|endosome transport|protein transport	early endosome membrane|plasma membrane	protein binding|zinc ion binding	g.chr3:15127455G>A	AY009133	CCDS2623.1	3p25.1	2014-01-15			ENSG00000131381	ENSG00000131381		"Zinc fingers, FYVE domain containing"	20759	protein-coding gene	gene with protein product		609511				11062261	Standard	XR_427283		Approved	Rabenosyn-5	uc003bzm.1	Q9H1K0	OTTHUMG00000129860	ENST00000253699.3:c.303C>T	3.37:g.15127455G>A						ZFYVE20_ENST00000476527.2_Silent_p.S101S|ZFYVE20_ENST00000435849.3_Silent_p.S101S|ZFYVE20_ENST00000449964.2_5'UTR	p.S101S	NM_022340.2	NP_071735.2	Q9H1K0	RBNS5_HUMAN			6	916	-			101			Necessary for the correct targeting to endosomes.		B4DWY8|C9J4P5|Q3KP30|Q59EY8|Q8NAQ1	Silent	SNP	ENST00000253699.3	37	c.303C>T	CCDS2623.1																																																																																				0.418	ZFYVE20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252102.2	NM_022340		36	127	0	0	0	1	0	36	127					A	15127455	G	A	15127455	2	1	435	1	0	0	0	0	0	0	0	1	17663	1194	42	3		3	ZFYVE20	3	15127455	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	184904	15127455	182894975	1685	22610											
SH3BP5	9467	broad.mit.edu	37	chr3	15311358	15311358	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtggccctctggaagtcctgCgtggctttctgagcttccag	4	12	13	12	1	2	1	0	1	2	0	4	2	4	2	3	3	2	2	3	3	1	2	rs371749855		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:15311358C>T	ENST00000383791.3	-	4	577	c.357G>A	c.(355-357)acG>acA	p.T119T	SH3BP5_ENST00000408919.3_5'UTR|SH3BP5_ENST00000426925.1_5'UTR|SH3BP5_ENST00000253688.5_5'UTR|SH3BP5_ENST00000465894.2_5'UTR	NM_004844.4	NP_004835.2	O60239	3BP5_HUMAN	SH3-domain binding protein 5 (BTK-associated)	119					intracellular signal transduction (GO:0035556)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	protein kinase inhibitor activity (GO:0004860)			NS(1)|endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)	12						GGAAGTCCTGCGTGGCTTTCT	0.577																																						ENST00000383791.3																			0				NS(1)|endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)	12						c.(355-357)acG>acA		SH3-domain binding protein 5 (BTK-associated)		C	,	1,4405	2.1+/-5.4	0,1,2202	102	106	105		,357	-10.8	0.7	3		105	0,8600		0,0,4300	no	utr-5,coding-synonymous	SH3BP5	NM_001018009.2,NM_004844.3	,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,	,119/456	15311358	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	9467				intracellular signal transduction	mitochondrion	protein kinase inhibitor activity|SH3 domain binding	g.chr3:15311358C>T	AB005047	CCDS2625.2, CCDS43055.1	3p24.3	2008-07-10			ENSG00000131370	ENSG00000131370			10827	protein-coding gene	gene with protein product	"SH3 binding protein"	605612				9571151, 10339589	Standard	NM_004844		Approved	Sab	uc003bzp.2	O60239	OTTHUMG00000129859	ENST00000383791.3:c.357G>A	3.37:g.15311358C>T						SH3BP5_ENST00000408919.3_5'UTR|SH3BP5_ENST00000253688.5_5'UTR|SH3BP5_ENST00000465894.2_5'UTR|SH3BP5_ENST00000426925.1_5'UTR	p.T119T	NM_004844.4	NP_004835.2	O60239	3BP5_HUMAN			4	577	-			119					B3KQW6|Q5JWV9	Silent	SNP	ENST00000383791.3	37	c.357G>A	CCDS2625.2																																																																																				0.577	SH3BP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340740.2	NM_004844		50	65	0	0	0	1	0	50	65					T	15311358	C	T	15311358	2	4	435	1	0	0	0	0	0	0	0	1	14247	755	27	1		1	SH3BP5	3	15311358	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	183903	15311358	182711072	1686	22611											
SH3BP5	9467	broad.mit.edu	37	chr3	15311378	15311378	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgtggctttctgagcttccaGctgagcctgtgtgagaaaga	8	11	13	9	1	1	4	0	3	1	2	2	5	2	4	2	1	3	3	2	1	1	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:15311378G>A	ENST00000383791.3	-	4	557	c.337C>T	c.(337-339)Ctg>Ttg	p.L113L	SH3BP5_ENST00000408919.3_5'UTR|SH3BP5_ENST00000426925.1_5'UTR|SH3BP5_ENST00000253688.5_5'UTR|SH3BP5_ENST00000465894.2_5'UTR	NM_004844.4	NP_004835.2	O60239	3BP5_HUMAN	SH3-domain binding protein 5 (BTK-associated)	113					intracellular signal transduction (GO:0035556)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	protein kinase inhibitor activity (GO:0004860)			NS(1)|endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)	12						TGAGCTTCCAGCTGAGCCTGT	0.567																																						ENST00000383791.3																			0				NS(1)|endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)	12						c.(337-339)Ctg>Ttg		SH3-domain binding protein 5 (BTK-associated)							86	90	88					3																	15311378		2203	4300	6503	SO:0001819	synonymous_variant	9467				intracellular signal transduction	mitochondrion	protein kinase inhibitor activity|SH3 domain binding	g.chr3:15311378G>A	AB005047	CCDS2625.2, CCDS43055.1	3p24.3	2008-07-10			ENSG00000131370	ENSG00000131370			10827	protein-coding gene	gene with protein product	"SH3 binding protein"	605612				9571151, 10339589	Standard	NM_004844		Approved	Sab	uc003bzp.2	O60239	OTTHUMG00000129859	ENST00000383791.3:c.337C>T	3.37:g.15311378G>A						SH3BP5_ENST00000408919.3_5'UTR|SH3BP5_ENST00000253688.5_5'UTR|SH3BP5_ENST00000465894.2_5'UTR|SH3BP5_ENST00000426925.1_5'UTR	p.L113L	NM_004844.4	NP_004835.2	O60239	3BP5_HUMAN			4	557	-			113					B3KQW6|Q5JWV9	Silent	SNP	ENST00000383791.3	37	c.337C>T	CCDS2625.2																																																																																				0.567	SH3BP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340740.2	NM_004844		30	56	0	0	0	1	0	30	56					A	15311378	G	A	15311378	2	1	435	1	0	0	0	0	0	0	0	1	14247	962	34	3		3	SH3BP5	3	15311378	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	20	15311378	182711052	1687	22612											
BTD	686	broad.mit.edu	37	chr3	15686298	15686298	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tctggggatgacaggaagtgGcatacacacccctctggagt	10	8	13	10	0	2	1	0	1	2	0	2	4	2	4	2	5	1	1	2	5	2	1	rs377651057		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:15686298G>A	ENST00000303498.5	+	4	1044	c.935G>A	c.(934-936)gGc>gAc	p.G312D	BTD_ENST00000449107.1_Missense_Mutation_p.G314D|BTD_ENST00000437172.1_Missense_Mutation_p.G314D|BTD_ENST00000383778.4_Missense_Mutation_p.G292D	NM_000060.2|NM_001281723.1	NP_000051.1|NP_001268652.1	P43251	BTD_HUMAN	biotinidase	312	CN hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00054}.				biotin metabolic process (GO:0006768)|central nervous system development (GO:0007417)|epidermis development (GO:0008544)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical part of cell (GO:0045177)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|nucleolus (GO:0005730)|perikaryon (GO:0043204)	biotin carboxylase activity (GO:0004075)|biotinidase activity (GO:0047708)			breast(2)|endometrium(3)|large_intestine(2)|lung(9)|prostate(1)|skin(1)	18						ACAGGAAGTGGCATACACACC	0.478																																						ENST00000383778.4																			0				breast(2)|endometrium(3)|large_intestine(2)|lung(9)|prostate(1)|skin(1)	18	GRCh37	CM993559	BTD	M		c.(874-876)gGc>gAc		biotinidase		G	ASP/GLY	0,4406		0,0,2203	81	75	77		935	5.8	1	3		77	1,8599	1.2+/-3.3	0,1,4299	no	missense	BTD	NM_000060.2	94	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	312/544	15686298	1,13005	2203	4300	6503	SO:0001583	missense	686				central nervous system development|epidermis development|nitrogen compound metabolic process	extracellular space	biotin carboxylase activity|biotinidase activity	g.chr3:15686298G>A	AF018631	CCDS2628.1, CCDS63563.1, CCDS63564.1, CCDS63565.1	3p25	2007-03-26			ENSG00000169814	ENSG00000169814	3.5.1.12		1122	protein-coding gene	gene with protein product		609019				8001986	Standard	NM_001281723		Approved		uc003cah.3	P43251	OTTHUMG00000129861	ENST00000303498.5:c.935G>A	3.37:g.15686298G>A	ENSP00000306477:p.Gly312Asp					BTD_ENST00000303498.5_Missense_Mutation_p.G312D|BTD_ENST00000449107.1_Missense_Mutation_p.G314D|BTD_ENST00000437172.1_Missense_Mutation_p.G314D	p.G292D			P43251	BTD_HUMAN			4	1233	+			312			CN hydrolase.		A6NHF2|B2R865|B4DFX1|B4DLJ9|B7Z7C9|F8W1Q3|Q96EM9	Missense_Mutation	SNP	ENST00000303498.5	37	c.875G>A	CCDS2628.1	.	.	.	.	.	.	.	.	.	.	G	31	5.098577	0.94197	0.0	1.16E-4	ENSG00000169814	ENST00000449107;ENST00000303498;ENST00000437172;ENST00000383778	D;D;D;D	0.86097	-2.07;-2.07;-2.07;-2.07	5.82	5.82	0.92795	Nitrilase/cyanide hydratase and apolipoprotein N-acyltransferase (3);	0.000000	0.85682	D	0.000000	D	0.95027	0.8390	H	0.94385	3.53	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.95648	0.8704	10	0.87932	D	0	-13.8071	20.0852	0.97797	0.0:0.0:1.0:0.0	.	314;314;312	A6NHF2;B4DLJ9;P43251	.;.;BTD_HUMAN	D	314;312;314;292	ENSP00000388212:G314D;ENSP00000306477:G312D;ENSP00000400995:G314D;ENSP00000373288:G292D	ENSP00000306477:G312D	G	+	2	0	BTD	15661302	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	9.790000	0.99075	2.756000	0.94617	0.561000	0.74099	GGC		0.478	BTD-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252103.2	NM_000060		7	88	0	0	0	1	0	7	88					A	15686298	G	A	15686298	3	1	435	1	0	0	0	0	1	0	0	0	1550	1203	42	3	949	3	BTD	3	15686298	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	374920	15686298	182336132	1688	22613											
GALNTL2	117248	broad.mit.edu	37	chr3	16268936	16268936	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaacaataaagatttgtacCtgcgtccgtgtgatggaaaa	16	10	9	6	2	0	2	0	1	0	1	1	3	1	3	2	1	3	1	2	1	8	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:16268936C>A	ENST00000339732.5	+	10	2352	c.1849C>A	c.(1849-1851)Ctg>Atg	p.L617M	GALNT15_ENST00000437509.1_Intron	NM_054110.4	NP_473451.3	Q8N3T1	GLT15_HUMAN	polypeptide N-acetylgalactosaminyltransferase 15	617	Ricin B-type lectin. {ECO:0000255|PROSITE-ProRule:PRU00174}.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|transport vesicle (GO:0030133)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)										AGATTTGTACCTGCGTCCGTG	0.413																																						ENST00000339732.5																			0											c.(1849-1851)Ctg>Atg		UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 15							125	125	125					3																	16268936		2203	4300	6503	SO:0001583	missense	117248							g.chr3:16268936C>A	AY358443	CCDS33711.1	3p25.1	2014-03-13	2014-03-13	2013-01-25	ENSG00000131386	ENSG00000131386	2.4.1.41	"Glycosyltransferase family 2 domain containing"	21531	protein-coding gene	gene with protein product	"polypeptide GalNAc transferase 15"	615131	"UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 2", "UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 15"	GALNTL2		12975309, 14702039, 15147861	Standard	NM_054110		Approved	GALNT7, pp-GalNAc-T15	uc003car.4	Q8N3T1	OTTHUMG00000156893	ENST00000339732.5:c.1849C>A	3.37:g.16268936C>A	ENSP00000344260:p.Leu617Met					GALNT15_ENST00000437509.1_Intron	p.L617M	NM_054110.4	NP_473451.3					10	2352	+								A6NMN1|B2R638|F1LIP6|Q86T60|Q96C46|Q96DJ5	Missense_Mutation	SNP	ENST00000339732.5	37	c.1849C>A	CCDS33711.1	.	.	.	.	.	.	.	.	.	.	C	6.927	0.540760	0.13250	.	.	ENSG00000131386	ENST00000339732;ENST00000543679	T	0.33654	1.4	5.51	-1.43	0.08884	Ricin B-related lectin (1);Ricin B lectin (3);	0.158882	0.40064	N	0.001189	T	0.44664	0.1304	L	0.58428	1.81	0.09310	N	0.999999	D	0.89917	1.0	D	0.87578	0.998	T	0.46289	-0.9202	10	0.10902	T	0.67	.	8.9147	0.35574	0.0:0.4454:0.0:0.5546	.	617	Q8N3T1	GLTL2_HUMAN	M	617;147	ENSP00000344260:L617M	ENSP00000344260:L617M	L	+	1	2	GALNTL2	16243940	0.824000	0.29247	0.001000	0.08648	0.001000	0.01503	-0.071000	0.11505	-0.114000	0.11936	-0.290000	0.09829	CTG		0.413	GALNT15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346483.2	NM_054110		4	66	1	0	0.000602214	1	0.000612743	4	66					A	16268936	C	A	16268936	3	1	435	1	0	0	0	0	1	0	0	0	6222	680	24	5	1887	5	GALNTL2	3	16268936	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	582638	16268936	181753494	1689	22614											
PLCL2	23228	broad.mit.edu	37	chr3	17052134	17052134	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggatatgaagcaacctctGtctcattactttataaactc	13	13	5	10	0	2	1	1	1	2	0	4	2	2	2	1	1	4	1	1	1	7	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:17052134G>A	ENST00000418129.2	+	2	1383	c.918G>A	c.(916-918)ctG>ctA	p.L306L	PLCL2_ENST00000460467.1_Intron|PLCL2_ENST00000432376.1_Silent_p.L306L|PLCL2_ENST00000396755.2_Silent_p.L306L	NM_001144382.1	NP_001137854.1	Q9UPR0	PLCL2_HUMAN	phospholipase C-like 2	432					B cell proliferation involved in immune response (GO:0002322)|B-1a B cell differentiation (GO:0002337)|gamma-aminobutyric acid signaling pathway (GO:0007214)|intracellular signal transduction (GO:0035556)|lipid metabolic process (GO:0006629)|negative regulation of B cell receptor signaling pathway (GO:0050859)|positive regulation of receptor binding (GO:1900122)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of synaptic transmission, GABAergic (GO:0032228)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|GABA receptor binding (GO:0050811)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871)			breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	43						AGCAACCTCTGTCTCATTACT	0.398																																						ENST00000418129.2																			0				breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	43						c.(916-918)ctG>ctA		phospholipase C-like 2							116	127	123					3																	17052134		2203	4300	6503	SO:0001819	synonymous_variant	23228				intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr3:17052134G>A	AB029015	CCDS33713.1, CCDS74911.1	3p25.3-p25.1	2008-03-18	2002-02-18	2002-02-22	ENSG00000154822	ENSG00000154822			9064	protein-coding gene	gene with protein product		614276	"phospholipase C, epsilon 2"	PLCE2		10470851	Standard	NM_015184		Approved	KIAA1092	uc011awd.2	Q9UPR0	OTTHUMG00000155467	ENST00000418129.2:c.918G>A	3.37:g.17052134G>A						PLCL2_ENST00000460467.1_Intron|PLCL2_ENST00000432376.1_Silent_p.L306L|PLCL2_ENST00000396755.2_Silent_p.L306L	p.L306L	NM_001144382.1	NP_001137854.1	Q9UPR0	PLCL2_HUMAN			2	1383	+			432					A8K5V4|Q8N498|Q9H8L0|Q9UFP9	Silent	SNP	ENST00000418129.2	37	c.918G>A	CCDS33713.1	.	.	.	.	.	.	.	.	.	.	G	3.846	-0.032785	0.07543	.	.	ENSG00000154822	ENST00000419842	.	.	.	5.81	2.97	0.34412	.	.	.	.	.	T	0.55242	0.1908	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.51387	-0.8712	4	.	.	.	.	6.5678	0.22521	0.1657:0.1747:0.6596:0.0	.	.	.	.	Y	50	.	.	C	+	2	0	PLCL2	17027138	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	1.224000	0.32539	1.427000	0.47276	0.655000	0.94253	TGT		0.398	PLCL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340250.3			43	49	0	0	0	1	0	43	49					A	17052134	G	A	17052134	2	1	435	1	0	0	0	0	0	0	0	1	12040	1364	48	3		3	PLCL2	3	17052134	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	783198	17052134	180970296	1690	22615											
TBC1D5	9779	broad.mit.edu	37	chr3	17447938	17447938	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aaatgctgcggaacctgctgCttctcagctgcccattaatc	9	11	8	13	1	1	0	1	0	1	0	3	1	1	1	2	1	7	4	2	1	3	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:17447938C>T	ENST00000253692.7	-	5	1912	c.248G>A	c.(247-249)aGc>aAc	p.S83N	TBC1D5_ENST00000414318.2_Intron|TBC1D5_ENST00000429924.2_Missense_Mutation_p.S35N|TBC1D5_ENST00000446818.2_Missense_Mutation_p.S83N|TBC1D5_ENST00000429383.4_Missense_Mutation_p.S83N	NM_014744.2	NP_055559.1	Q92609	TBCD5_HUMAN	TBC1 domain family, member 5	83	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.					retromer complex (GO:0030904)	Rab GTPase activator activity (GO:0005097)			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	36						GAACCTGCTGCTTCTCAGCTG	0.383																																						ENST00000253692.7																			0				NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	36						c.(247-249)aGc>aAc		TBC1 domain family, member 5							180	173	175					3																	17447938		2203	4300	6503	SO:0001583	missense	9779					intracellular	protein binding|Rab GTPase activator activity	g.chr3:17447938C>T	D86965	CCDS33714.1, CCDS46770.1	3p24.3	2013-07-09			ENSG00000131374	ENSG00000131374			19166	protein-coding gene	gene with protein product		615740				19531583	Standard	NM_014744		Approved	KIAA0210	uc003cbe.3	Q92609	OTTHUMG00000155488	ENST00000253692.7:c.248G>A	3.37:g.17447938C>T	ENSP00000253692:p.Ser83Asn					TBC1D5_ENST00000429383.4_Missense_Mutation_p.S83N|TBC1D5_ENST00000414318.2_Intron|TBC1D5_ENST00000446818.2_Missense_Mutation_p.S83N|TBC1D5_ENST00000429924.2_Missense_Mutation_p.S35N	p.S83N	NM_014744.2	NP_055559.1	Q92609	TBCD5_HUMAN			5	1912	-			83			Rab-GAP TBC.		A6NP25|C9JP52	Missense_Mutation	SNP	ENST00000253692.7	37	c.248G>A	CCDS33714.1	.	.	.	.	.	.	.	.	.	.	C	17.80	3.477743	0.63849	.	.	ENSG00000131374	ENST00000253692;ENST00000429383;ENST00000446818;ENST00000429924;ENST00000415814;ENST00000428355;ENST00000425944;ENST00000445294;ENST00000414349;ENST00000507877	T;T;T;T;T;T;T;T;T;T	0.20463	2.07;2.07;2.07;2.07;2.07;2.07;2.07;2.07;2.07;2.07	5.31	4.41	0.53225	Rab-GAP/TBC domain (3);	0.072660	0.85682	D	0.000000	T	0.40619	0.1124	M	0.62723	1.935	0.80722	D	1	B;D;D	0.53745	0.034;0.962;0.962	B;P;P	0.60415	0.076;0.822;0.874	T	0.24835	-1.0149	10	0.46703	T	0.11	-19.4049	16.023	0.80512	0.0:0.8652:0.1348:0.0	.	35;83;83	C9J3F6;C9JP52;Q92609	.;.;TBCD5_HUMAN	N	83;83;83;35;83;83;83;83;83;83	ENSP00000253692:S83N;ENSP00000398127:S83N;ENSP00000402935:S83N;ENSP00000411925:S35N;ENSP00000396239:S83N;ENSP00000387395:S83N;ENSP00000399967:S83N;ENSP00000410596:S83N;ENSP00000393882:S83N;ENSP00000424998:S83N	ENSP00000253692:S83N	S	-	2	0	TBC1D5	17422942	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.939000	0.75911	1.299000	0.44798	0.655000	0.94253	AGC		0.383	TBC1D5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340301.3	NM_014744		10	71	0	0	0	1	0	10	71					T	17447938	C	T	17447938	3	4	435	1	0	0	0	0	1	0	0	0	15620	797	28	3	2281	3	TBC1D5	3	17447938	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	395804	17447938	180574492	1691	22616											
KCNH8	131096	broad.mit.edu	37	chr3	19575323	19575323	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctctccacattcagattctaCgttgacgcctctgcagtcca	8	12	6	15	2	4	2	1	1	3	1	6	2	5	2	3	0	2	2	3	0	1	4	rs200231499		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:19575323C>T	ENST00000328405.2	+	16	3322	c.3056C>T	c.(3055-3057)aCg>aTg	p.T1019M		NM_144633.2	NP_653234.2	Q96L42	KCNH8_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 8	1019	Ser-rich.				potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(3)|lung(37)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	77						TCAGATTCTACGTTGACGCCT	0.453													C|||	1	0.000199681	0	0.0014	5008	,	,		22753	0		0	False		,,,				2504	0				NSCLC(124;1625 1765 8018 24930 42026)	ENST00000328405.2																			0				NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(3)|lung(37)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	77						c.(3055-3057)aCg>aTg		potassium voltage-gated channel, subfamily H (eag-related), member 8							247	240	242					3																	19575323		2203	4300	6503	SO:0001583	missense	131096					integral to membrane	two-component sensor activity	g.chr3:19575323C>T	AY053503	CCDS2632.1	3p24.3	2012-07-05			ENSG00000183960	ENSG00000183960		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	18864	protein-coding gene	gene with protein product		608260				16382104	Standard	NM_144633		Approved	Kv12.1, elk3	uc003cbk.1	Q96L42	OTTHUMG00000129891	ENST00000328405.2:c.3056C>T	3.37:g.19575323C>T	ENSP00000328813:p.Thr1019Met						p.T1019M	NM_144633.2	NP_653234.2	Q96L42	KCNH8_HUMAN			16	3322	+			1019			Ser-rich.		B7Z2I7|Q59GQ6	Missense_Mutation	SNP	ENST00000328405.2	37	c.3056C>T	CCDS2632.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	14.64	2.595288	0.46318	.	.	ENSG00000183960	ENST00000328405	D	0.99113	-5.44	5.72	5.72	0.89469	.	0.000000	0.32328	U	0.006248	D	0.98985	0.9654	L	0.50333	1.59	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.99819	1.1046	9	.	.	.	.	19.88	0.96892	0.0:1.0:0.0:0.0	.	1019	Q96L42	KCNH8_HUMAN	M	1019	ENSP00000328813:T1019M	.	T	+	2	0	KCNH8	19550327	0.975000	0.34042	0.027000	0.17364	0.473000	0.32948	4.092000	0.57707	2.703000	0.92315	0.655000	0.94253	ACG		0.453	KCNH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252139.2	NM_144633		69	101	0	0	0	1	0	69	101					T	19575323	C	T	19575323	3	4	435	1	0	0	0	0	1	0	0	0	8038	536	19	1	3118	1	KCNH8	3	19575323	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	2127385	19575323	178447107	1692	22617											
EFHB	151651	broad.mit.edu	37	chr3	19921210	19921210	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaacacaaacttctcctctGtgatgcttttttgatgcaag	10	15	6	10	0	3	2	1	2	2	0	4	2	3	2	1	0	4	2	1	0	3	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:19921210G>A	ENST00000295824.9	-	13	2576	c.2415C>T	c.(2413-2415)caC>caT	p.H805H	EFHB_ENST00000344838.4_Silent_p.H675H	NM_144715.3	NP_653316.3	Q8N7U6	EFHB_HUMAN	EF-hand domain family, member B	805							calcium ion binding (GO:0005509)			breast(2)|endometrium(4)|kidney(1)|lung(17)|prostate(1)|urinary_tract(1)	26						CTTCTCCTCTGTGATGCTTTT	0.368																																						ENST00000295824.9																			0				breast(2)|endometrium(4)|kidney(1)|lung(17)|prostate(1)|urinary_tract(1)	26						c.(2413-2415)caC>caT		EF-hand domain family, member B							204	185	192					3																	19921210		2203	4300	6503	SO:0001819	synonymous_variant	151651				signal transduction	proteinaceous extracellular matrix	calcium ion binding	g.chr3:19921210G>A	AK122616	CCDS33715.2	3p24.3	2014-07-18			ENSG00000163576	ENSG00000163576		"EF-hand domain containing"	26330	protein-coding gene	gene with protein product	"cilia and flagella associated protein 21"					12477932	Standard	NM_144715		Approved	FLJ25200, CFAP21	uc003cbl.4	Q8N7U6	OTTHUMG00000150505	ENST00000295824.9:c.2415C>T	3.37:g.19921210G>A						EFHB_ENST00000344838.4_Silent_p.H675H	p.H805H	NM_144715.3	NP_653316.3	Q8N7U6	EFHB_HUMAN			13	2576	-			805					A6ND25|A8MPR3|Q6ZWK9|Q8IV58|Q96LQ6	Silent	SNP	ENST00000295824.9	37	c.2415C>T	CCDS33715.2																																																																																				0.368	EFHB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318673.2	NM_144715		34	70	0	0	0	1	0	34	70					A	19921210	G	A	19921210	2	1	435	1	0	0	0	0	0	0	0	1	4945	1368	48	3		3	EFHB	3	19921210	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	345887	19921210	178101220	1693	22618											
KAT2B	8850	broad.mit.edu	37	chr3	20142838	20142838	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagcaaaagaaaggcaaacAatagttgagttggcaaaaat	20	6	9	6	0	0	2	0	1	0	1	0	2	0	2	1	2	2	5	1	2	8	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:20142838A>G	ENST00000263754.4	+	5	1184	c.729A>G	c.(727-729)acA>acG	p.T243T		NM_003884.4	NP_003875.3	Q92831	KAT2B_HUMAN	K(lysine) acetyltransferase 2B	243					cell cycle arrest (GO:0007050)|cellular response to insulin stimulus (GO:0032869)|chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|gene expression (GO:0010467)|histone H3 acetylation (GO:0043966)|histone H3-K9 acetylation (GO:0043970)|internal peptidyl-lysine acetylation (GO:0018393)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|Notch signaling pathway (GO:0007219)|peptidyl-lysine acetylation (GO:0018394)|positive regulation of gluconeogenesis (GO:0045722)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein acetylation (GO:0006473)|regulation of protein ADP-ribosylation (GO:0010835)|rhythmic process (GO:0048511)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	A band (GO:0031672)|actomyosin (GO:0042641)|Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|I band (GO:0031674)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PCAF complex (GO:0000125)	acetyltransferase activity (GO:0016407)|cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|histone acetyltransferase activity (GO:0004402)|histone deacetylase binding (GO:0042826)|lysine N-acetyltransferase activity, acting on acetyl phosphate as donor (GO:0004468)|protein complex binding (GO:0032403)|protein kinase binding (GO:0019901)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|transcription factor binding (GO:0008134)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	40						AAAGGCAAACAATAGTTGAGT	0.413																																						ENST00000263754.4																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	40						c.(727-729)acA>acG		K(lysine) acetyltransferase 2B							109	95	100					3																	20142838		2203	4300	6503	SO:0001819	synonymous_variant	8850				cell cycle arrest|cellular response to insulin stimulus|chromatin remodeling|histone H3 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|negative regulation of cell proliferation|transcription initiation from RNA polymerase I promoter	Ada2/Gcn5/Ada3 transcription activator complex|chromatin remodeling complex|PCAF complex	cyclin-dependent protein kinase inhibitor activity|histone acetyltransferase activity|histone deacetylase binding|protein kinase binding|transcription coactivator activity|transcription factor binding	g.chr3:20142838A>G	U57316	CCDS2634.1	3p24	2011-07-01	2008-07-04	2008-07-04	ENSG00000114166	ENSG00000114166		"Chromatin-modifying enzymes / K-acetyltransferases"	8638	protein-coding gene	gene with protein product		602303	"p300/CBP-associated factor"	PCAF		8684459, 9722949	Standard	NM_003884		Approved	P/CAF, GCN5, GCN5L	uc003cbq.3	Q92831	OTTHUMG00000130481	ENST00000263754.4:c.729A>G	3.37:g.20142838A>G							p.T243T	NM_003884.4	NP_003875.3	Q92831	KAT2B_HUMAN			5	1184	+			243					Q6NSK1	Silent	SNP	ENST00000263754.4	37	c.729A>G	CCDS2634.1																																																																																				0.413	KAT2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252880.1	NM_003884		32	57	0	0	0	1	0	32	57					G	20142838	A	G	20142838	2	3	435	1	0	0	0	0	0	0	0	1	7982	117	5	4		4	KAT2B	3	20142838	Silent	SNP	A	TCGA-XK-AAIW-01A-11D-A41K-08	221628	20142838	177879592	1694	22619											
KAT2B	8850	broad.mit.edu	37	chr3	20167421	20167421	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	attttctgtcagcacactcgGccagggatgaggcggcaagg	9	8	14	10	2	2	1	1	1	1	0	3	2	2	2	1	5	1	2	1	5	1	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:20167421G>A	ENST00000263754.4	+	10	1893	c.1438G>A	c.(1438-1440)Gcc>Acc	p.A480T		NM_003884.4	NP_003875.3	Q92831	KAT2B_HUMAN	K(lysine) acetyltransferase 2B	480					cell cycle arrest (GO:0007050)|cellular response to insulin stimulus (GO:0032869)|chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|gene expression (GO:0010467)|histone H3 acetylation (GO:0043966)|histone H3-K9 acetylation (GO:0043970)|internal peptidyl-lysine acetylation (GO:0018393)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|Notch signaling pathway (GO:0007219)|peptidyl-lysine acetylation (GO:0018394)|positive regulation of gluconeogenesis (GO:0045722)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein acetylation (GO:0006473)|regulation of protein ADP-ribosylation (GO:0010835)|rhythmic process (GO:0048511)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	A band (GO:0031672)|actomyosin (GO:0042641)|Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|I band (GO:0031674)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PCAF complex (GO:0000125)	acetyltransferase activity (GO:0016407)|cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|histone acetyltransferase activity (GO:0004402)|histone deacetylase binding (GO:0042826)|lysine N-acetyltransferase activity, acting on acetyl phosphate as donor (GO:0004468)|protein complex binding (GO:0032403)|protein kinase binding (GO:0019901)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|transcription factor binding (GO:0008134)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	40						AGCACACTCGGCCAGGGATGA	0.478																																						ENST00000263754.4																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	40						c.(1438-1440)Gcc>Acc		K(lysine) acetyltransferase 2B							87	89	88					3																	20167421		2203	4300	6503	SO:0001583	missense	8850				cell cycle arrest|cellular response to insulin stimulus|chromatin remodeling|histone H3 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|negative regulation of cell proliferation|transcription initiation from RNA polymerase I promoter	Ada2/Gcn5/Ada3 transcription activator complex|chromatin remodeling complex|PCAF complex	cyclin-dependent protein kinase inhibitor activity|histone acetyltransferase activity|histone deacetylase binding|protein kinase binding|transcription coactivator activity|transcription factor binding	g.chr3:20167421G>A	U57316	CCDS2634.1	3p24	2011-07-01	2008-07-04	2008-07-04	ENSG00000114166	ENSG00000114166		"Chromatin-modifying enzymes / K-acetyltransferases"	8638	protein-coding gene	gene with protein product		602303	"p300/CBP-associated factor"	PCAF		8684459, 9722949	Standard	NM_003884		Approved	P/CAF, GCN5, GCN5L	uc003cbq.3	Q92831	OTTHUMG00000130481	ENST00000263754.4:c.1438G>A	3.37:g.20167421G>A	ENSP00000263754:p.Ala480Thr						p.A480T	NM_003884.4	NP_003875.3	Q92831	KAT2B_HUMAN			10	1893	+			480					Q6NSK1	Missense_Mutation	SNP	ENST00000263754.4	37	c.1438G>A	CCDS2634.1	.	.	.	.	.	.	.	.	.	.	G	20.5	4.008322	0.75046	.	.	ENSG00000114166	ENST00000263754	T	0.22743	1.94	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	T	0.26702	0.0653	L	0.49256	1.55	0.80722	D	1	P	0.50066	0.931	B	0.44163	0.443	T	0.00958	-1.1500	10	0.30854	T	0.27	-15.9018	19.6847	0.95976	0.0:0.0:1.0:0.0	.	480	Q92831	KAT2B_HUMAN	T	480	ENSP00000263754:A480T	ENSP00000263754:A480T	A	+	1	0	KAT2B	20142425	1.000000	0.71417	0.838000	0.33150	0.387000	0.30353	9.813000	0.99286	2.726000	0.93360	0.655000	0.94253	GCC		0.478	KAT2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252880.1	NM_003884		20	35	0	0	0	1	0	20	35					A	20167421	G	A	20167421	3	1	435	1	0	0	0	0	1	0	0	0	7982	1203	42	3	1476	3	KAT2B	3	20167421	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	24583	20167421	177855009	1695	22620											
SGOL1	151648	broad.mit.edu	37	chr3	20216081	20216081	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggaacagtttttttattttcGcttttattctctttatattt	7	25	4	5	1	1	0	0	0	1	0	3	1	1	1	0	1	1	2	0	1	5	13			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:20216081G>A	ENST00000263753.4	-	6	1081	c.942C>T	c.(940-942)agC>agT	p.S314S	SGOL1_ENST00000437051.1_Intron|SGOL1_ENST00000425061.1_Intron|SGOL1-AS1_ENST00000448208.1_RNA|SGOL1_ENST00000417364.1_Intron|SGOL1_ENST00000412997.1_Silent_p.S314S|SGOL1_ENST00000383774.1_Intron|SGOL1_ENST00000429446.3_Intron|SGOL1_ENST00000443724.1_Intron|SGOL1_ENST00000452020.1_Intron|SGOL1-AS1_ENST00000441442.1_RNA|SGOL1_ENST00000412868.1_Silent_p.S314S|SGOL1_ENST00000306698.2_Intron|SGOL1_ENST00000442720.1_Intron|SGOL1_ENST00000419233.2_Intron|SGOL1_ENST00000421451.1_Silent_p.S314S	NM_001012410.3|NM_001199252.1	NP_001012410.1|NP_001186181.1	Q5FBB7	SGOL1_HUMAN	shugoshin-like 1 (S. pombe)	314					attachment of spindle microtubules to kinetochore (GO:0008608)|centriole-centriole cohesion (GO:0010457)|chromosome segregation (GO:0007059)|meiotic chromosome segregation (GO:0045132)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	centrosome (GO:0005813)|chromosome, centromeric region (GO:0000775)|condensed chromosome, centromeric region (GO:0000779)|condensed nuclear chromosome, centromeric region (GO:0000780)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|mitotic cohesin complex (GO:0030892)|nucleus (GO:0005634)|spindle pole (GO:0000922)	kinase binding (GO:0019900)			kidney(1)|large_intestine(4)|lung(6)|skin(1)|urinary_tract(2)	14						ttttattttcgcttttattct	0.303																																						ENST00000412997.1																			0				kidney(1)|large_intestine(4)|lung(6)|skin(1)|urinary_tract(2)	14						c.(940-942)agC>agT		shugoshin-like 1 (S. pombe)							48	44	45					3																	20216081		2203	4297	6500	SO:0001819	synonymous_variant	151648				attachment of spindle microtubules to kinetochore|cell division|centriole-centriole cohesion|meiotic chromosome segregation|mitotic prometaphase	centrosome|condensed chromosome kinetochore|cytosol|mitotic cohesin complex|spindle pole	protein binding	g.chr3:20216081G>A	BC001339	CCDS2635.1, CCDS33716.1, CCDS46771.1, CCDS46772.1, CCDS46773.1, CCDS46774.1, CCDS56243.1	3p24.3	2005-07-27			ENSG00000129810	ENSG00000129810			25088	protein-coding gene	gene with protein product		609168				12747765	Standard	NM_001199251		Approved	NY-BR-85	uc003cbu.3	Q5FBB7	OTTHUMG00000130479	ENST00000263753.4:c.942C>T	3.37:g.20216081G>A						SGOL1_ENST00000452020.1_Intron|SGOL1_ENST00000263753.4_Silent_p.S314S|SGOL1-AS1_ENST00000441442.1_RNA|SGOL1_ENST00000412868.1_Silent_p.S314S|SGOL1_ENST00000443724.1_Intron|SGOL1_ENST00000306698.2_Intron|SGOL1_ENST00000437051.1_Intron|SGOL1_ENST00000425061.1_Intron|SGOL1_ENST00000421451.1_Silent_p.S314S|SGOL1_ENST00000383774.1_Intron|SGOL1_ENST00000419233.2_Intron|SGOL1_ENST00000417364.1_Intron|SGOL1-AS1_ENST00000448208.1_RNA|SGOL1_ENST00000429446.3_Intron|SGOL1_ENST00000442720.1_Intron	p.S314S	NM_001199251.1	NP_001186180.1	Q5FBB7	SGOL1_HUMAN			6	1293	-			314					Q588H5|Q5FBB4|Q5FBB5|Q5FBB6|Q5FBB8|Q8N579|Q8WVL0|Q9BVA8|Q9H275	Silent	SNP	ENST00000263753.4	37	c.942C>T	CCDS33716.1																																																																																				0.303	SGOL1-009	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000340498.1	NM_138484		19	29	0	0	0	1	0	19	29					A	20216081	G	A	20216081	2	1	435	1	0	0	0	0	0	0	0	1	14216	1078	38	1		1	SGOL1	3	20216081	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	48660	20216081	177806349	1696	22621											
ZNF385D	79750	broad.mit.edu	37	chr3	21467132	21467132	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgatagtgccacttccattcCgggcttctaacatggttttg	7	15	9	10	1	1	1	0	1	1	0	3	1	3	1	3	2	2	2	3	2	2	7			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:21467132C>T	ENST00000281523.2	-	6	1222	c.704G>A	c.(703-705)cGg>cAg	p.R235Q		NM_024697.2	NP_078973.1	Q9H6B1	Z385D_HUMAN	zinc finger protein 385D	235						nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			NS(2)|breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(1)|prostate(1)|skin(4)	46						ACTTCCATTCCGGGCTTCTAA	0.453																																						ENST00000281523.2																			0				NS(2)|breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(1)|prostate(1)|skin(4)	46						c.(703-705)cGg>cAg		zinc finger protein 385D							97	91	93					3																	21467132		2203	4300	6503	SO:0001583	missense	79750					nucleus	nucleic acid binding|zinc ion binding	g.chr3:21467132C>T	BC007212	CCDS2636.1	3p24.3	2012-10-05	2007-12-06	2007-12-06	ENSG00000151789	ENSG00000151789			26191	protein-coding gene	gene with protein product			"zinc finger protein 659"	ZNF659		12477932	Standard	NM_024697		Approved	FLJ22419	uc003cce.3	Q9H6B1	OTTHUMG00000130484	ENST00000281523.2:c.704G>A	3.37:g.21467132C>T	ENSP00000281523:p.Arg235Gln						p.R235Q	NM_024697.2	NP_078973.1	Q9H6B1	Z385D_HUMAN			6	1222	-			235						Missense_Mutation	SNP	ENST00000281523.2	37	c.704G>A	CCDS2636.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.148822	0.78001	.	.	ENSG00000151789	ENST00000281523	T	0.34072	1.38	5.46	5.46	0.80206	Zinc finger, U1-type (1);	0.000000	0.85682	D	0.000000	T	0.55433	0.1920	L	0.55834	1.745	0.53688	D	0.999975	D	0.89917	1.0	D	0.74023	0.982	T	0.39643	-0.9604	10	0.21014	T	0.42	-10.3218	19.6421	0.95762	0.0:1.0:0.0:0.0	.	235	Q9H6B1	Z385D_HUMAN	Q	235	ENSP00000281523:R235Q	ENSP00000281523:R235Q	R	-	2	0	ZNF385D	21442136	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.742000	0.85008	2.709000	0.92574	0.563000	0.77884	CGG		0.453	ZNF385D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252884.1	NM_024697		14	30	0	0	0	1	0	14	30					T	21467132	C	T	21467132	3	4	435	1	0	0	0	0	1	0	0	0	17875	652	23	2	495	2	ZNF385D	3	21467132	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	1251051	21467132	176555298	1697	22622											
RARB	5915	broad.mit.edu	37	chr3	25470290	25470290	+	Intron	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggatttctacactgcgagtcCgtcttcctgcatgctccagg	6	12	10	13	2	2	0	0	0	2	0	5	2	5	1	3	2	4	2	3	2	1	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:25470290C>T	ENST00000404969.1	+	2	178				RARB_ENST00000462272.1_3'UTR|RARB_ENST00000437042.2_Intron|RARB_ENST00000330688.4_Missense_Mutation_p.P23L			P10826	RARB_HUMAN	retinoic acid receptor, beta						embryonic digestive tract development (GO:0048566)|embryonic eye morphogenesis (GO:0048048)|embryonic hindlimb morphogenesis (GO:0035116)|gene expression (GO:0010467)|glandular epithelial cell development (GO:0002068)|growth plate cartilage development (GO:0003417)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cartilage development (GO:0061037)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|outflow tract septum morphogenesis (GO:0003148)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell proliferation (GO:0008284)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of myelination (GO:0031641)|retinal pigment epithelium development (GO:0003406)|signal transduction (GO:0007165)|striatum development (GO:0021756)|transcription initiation from RNA polymerase II promoter (GO:0006367)|ureteric bud development (GO:0001657)|ventricular cardiac muscle cell differentiation (GO:0055012)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|drug binding (GO:0008144)|retinoic acid receptor activity (GO:0003708)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			breast(3)|kidney(1)|large_intestine(10)|lung(11)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	28					Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Tamibarotene(DB04942)|Tazarotene(DB00799)	ACTGCGAGTCCGTCTTCCTGC	0.483																																						ENST00000330688.4																			0				breast(3)|kidney(1)|large_intestine(10)|lung(11)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	28						c.(67-69)cCg>cTg		retinoic acid receptor, beta	Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tamibarotene(DB04942)|Tazarotene(DB00799)						198	167	178					3																	25470290		2203	4300	6503	SO:0001627	intron_variant	5915				embryonic digestive tract development|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	protein binding|retinoic acid receptor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	g.chr3:25470290C>T	Y00291	CCDS2642.1, CCDS46775.1	3p24	2013-01-16			ENSG00000077092	ENSG00000077092		"Nuclear hormone receptors"	9865	protein-coding gene	gene with protein product		180220					Standard	NM_016152		Approved	HAP, NR1B2, RRB2	uc003cdh.3	P10826	OTTHUMG00000130480	ENST00000404969.1:c.179-32394C>T	3.37:g.25470290C>T						RARB_ENST00000437042.2_Intron|RARB_ENST00000462272.1_3'UTR|RARB_ENST00000404969.1_Intron	p.P23L	NM_000965.3	NP_000956.2	P10826	RARB_HUMAN			1	489	+			0			Modulating.		P12891|Q00989|Q15298|Q9UN48	Missense_Mutation	SNP	ENST00000404969.1	37	c.68C>T		.	.	.	.	.	.	.	.	.	.	C	15.27	2.784706	0.49997	.	.	ENSG00000077092	ENST00000330688	D	0.92249	-3.0	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	D	0.90717	0.7087	L	0.54323	1.7	0.80722	D	1	B	0.27286	0.174	B	0.23018	0.043	D	0.87893	0.2685	10	0.62326	D	0.03	.	19.855	0.96755	0.0:1.0:0.0:0.0	.	23	F1D8S6	.	L	23	ENSP00000332296:P23L	ENSP00000332296:P23L	P	+	2	0	RARB	25445294	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.953000	0.75995	2.691000	0.91804	0.561000	0.74099	CCG		0.483	RARB-201	KNOWN	basic	protein_coding	protein_coding		NM_000965, NM_016152		40	66	0	0	0	1	0	40	66					T	25470290	C	T	25470290	1	4	435	0	1	0	0	0	0	0	0	0	13053	652	23	2		2	RARB	3	25470290	Intron	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	4003158	25470290	172552140	1698	22623											
NGLY1	55768	broad.mit.edu	37	chr3	25761538	25761538	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tacttgtgctgtatcagatcGcaatttccattctactgttc	8	17	6	10	1	2	1	1	0	1	1	5	1	3	1	1	0	3	4	1	0	4	7			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:25761538G>A	ENST00000280700.5	-	11	1916	c.1756C>T	c.(1756-1758)Cga>Tga	p.R586*	NGLY1_ENST00000467224.1_Intron|NGLY1_ENST00000396649.3_Intron|NGLY1_ENST00000422724.2_3'UTR|NGLY1_ENST00000428257.1_Nonsense_Mutation_p.R568*|NGLY1_ENST00000417874.2_Nonsense_Mutation_p.R544*	NM_018297.3	NP_060767.2	Q96IV0	NGLY1_HUMAN	N-glycanase 1	586	PAW. {ECO:0000255|PROSITE- ProRule:PRU00731}.				glycoprotein catabolic process (GO:0006516)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|peptide-N4-(N-acetyl-beta-glucosaminyl)asparagine amidase activity (GO:0000224)			breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(2)|skin(1)	18						GTATCAGATCGCAATTTCCAT	0.378																																						ENST00000428257.1																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(2)|skin(1)	18						c.(1702-1704)Cga>Tga		N-glycanase 1							124	116	119					3																	25761538		2203	4300	6503	SO:0001587	stop_gained	55768				glycoprotein catabolic process	cytoplasm	metal ion binding|peptide-N4-(N-acetyl-beta-glucosaminyl)asparagine amidase activity|protein binding	g.chr3:25761538G>A	AF250924	CCDS33719.1, CCDS46777.1, CCDS46778.1, CCDS46779.1	3p23	2006-08-30			ENSG00000151092	ENSG00000151092			17646	protein-coding gene	gene with protein product		610661					Standard	NM_018297		Approved	FLJ11005, PNG1	uc003cdl.3	Q96IV0	OTTHUMG00000155600	ENST00000280700.5:c.1756C>T	3.37:g.25761538G>A	ENSP00000280700:p.Arg586*					NGLY1_ENST00000280700.5_Nonsense_Mutation_p.R586*|NGLY1_ENST00000422724.2_3'UTR|NGLY1_ENST00000417874.2_Nonsense_Mutation_p.R544*|NGLY1_ENST00000467224.1_Intron|NGLY1_ENST00000396649.3_Intron	p.R568*	NM_001145293.1	NP_001138765.1	Q96IV0	NGLY1_HUMAN			11	1809	-			586			PAW.		B4DJE9|Q59FB1|Q6PJD8|Q9BVR8|Q9NR70	Nonsense_Mutation	SNP	ENST00000280700.5	37	c.1702C>T	CCDS33719.1	.	.	.	.	.	.	.	.	.	.	G	34	5.307579	0.95629	.	.	ENSG00000151092	ENST00000428257;ENST00000280700;ENST00000308710;ENST00000417874	.	.	.	5.73	2.87	0.33458	.	1.022600	0.07716	N	0.942868	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.11485	T	0.65	-0.1454	6.4667	0.21985	0.1248:0.0:0.5028:0.3725	.	.	.	.	X	568;586;565;544	.	ENSP00000280700:R586X	R	-	1	2	NGLY1	25736542	0.564000	0.26602	0.442000	0.26870	0.533000	0.34776	0.930000	0.28858	0.720000	0.32209	0.563000	0.77884	CGA		0.378	NGLY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340832.2			28	38	0	0	0	1	0	28	38					A	25761538	G	A	25761538	4	1	435	1	0	0	0	0	0	1	0	0	10398	1095	38	1	216	1	NGLY1	3	25761538	Nonsense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	291248	25761538	172260892	1699	22624											
NGLY1	55768	broad.mit.edu	37	chr3	25820135	25820135	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agagtctagtagaaaaggctGtgtttccaatccggatggat	12	11	12	6	1	1	2	0	0	1	2	3	4	3	4	2	3	0	3	2	3	5	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:25820135G>A	ENST00000280700.5	-	2	336	c.176C>T	c.(175-177)aCa>aTa	p.T59I	NGLY1_ENST00000417874.2_Missense_Mutation_p.T17I|NGLY1_ENST00000422724.2_5'UTR|NGLY1_ENST00000428257.1_Missense_Mutation_p.T59I|NGLY1_ENST00000396649.3_Missense_Mutation_p.T59I	NM_018297.3	NP_060767.2	Q96IV0	NGLY1_HUMAN	N-glycanase 1	59	PUB.				glycoprotein catabolic process (GO:0006516)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|peptide-N4-(N-acetyl-beta-glucosaminyl)asparagine amidase activity (GO:0000224)			breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(2)|skin(1)	18						AGAAAAGGCTGTGTTTCCAAT	0.358																																						ENST00000428257.1																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(2)|skin(1)	18						c.(175-177)aCa>aTa		N-glycanase 1							119	122	121					3																	25820135		2203	4300	6503	SO:0001583	missense	55768				glycoprotein catabolic process	cytoplasm	metal ion binding|peptide-N4-(N-acetyl-beta-glucosaminyl)asparagine amidase activity|protein binding	g.chr3:25820135G>A	AF250924	CCDS33719.1, CCDS46777.1, CCDS46778.1, CCDS46779.1	3p23	2006-08-30			ENSG00000151092	ENSG00000151092			17646	protein-coding gene	gene with protein product		610661					Standard	NM_018297		Approved	FLJ11005, PNG1	uc003cdl.3	Q96IV0	OTTHUMG00000155600	ENST00000280700.5:c.176C>T	3.37:g.25820135G>A	ENSP00000280700:p.Thr59Ile					NGLY1_ENST00000280700.5_Missense_Mutation_p.T59I|NGLY1_ENST00000422724.2_5'UTR|NGLY1_ENST00000417874.2_Missense_Mutation_p.T17I|NGLY1_ENST00000396649.3_Missense_Mutation_p.T59I	p.T59I	NM_001145293.1	NP_001138765.1	Q96IV0	NGLY1_HUMAN			2	283	-			59			PUB.		B4DJE9|Q59FB1|Q6PJD8|Q9BVR8|Q9NR70	Missense_Mutation	SNP	ENST00000280700.5	37	c.176C>T	CCDS33719.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.271752	0.80469	.	.	ENSG00000151092	ENST00000428257;ENST00000280700;ENST00000396649;ENST00000308710;ENST00000417874	T;T;T;T;T	0.41400	1.0;1.0;1.0;1.0;1.5	5.43	5.43	0.79202	PUG domain (1);PUB domain (1);	0.187891	0.56097	D	0.000022	T	0.40423	0.1116	N	0.22421	0.69	0.80722	D	1	P;P;P;P	0.50819	0.473;0.938;0.846;0.939	B;P;P;P	0.51324	0.374;0.619;0.534;0.666	T	0.14868	-1.0457	10	0.42905	T	0.14	-3.6116	13.9523	0.64126	0.0:0.0:0.8475:0.1525	.	17;59;59;59	B4DJE9;Q96IV0-2;Q96IV0-3;Q96IV0	.;.;.;NGLY1_HUMAN	I	59;59;59;56;17	ENSP00000387430:T59I;ENSP00000280700:T59I;ENSP00000379886:T59I;ENSP00000307980:T56I;ENSP00000389888:T17I	ENSP00000280700:T59I	T	-	2	0	NGLY1	25795139	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	6.920000	0.75799	2.703000	0.92315	0.650000	0.86243	ACA		0.358	NGLY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340832.2			44	50	0	0	0	1	0	44	50					A	25820135	G	A	25820135	3	1	435	1	0	0	0	0	1	0	0	0	10398	1377	48	3	1928	3	NGLY1	3	25820135	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	58597	25820135	172202295	1700	22625											
LRRC3B	116135	broad.mit.edu	37	chr3	26751371	26751371	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctcctgaaacagtcttactgTatctggactccaatcagatc	11	12	6	12	0	3	2	1	1	2	1	6	3	5	3	2	1	2	1	2	1	4	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:26751371T>C	ENST00000396641.2	+	2	800	c.208T>C	c.(208-210)Tat>Cat	p.Y70H	LRRC3B_ENST00000417744.1_Missense_Mutation_p.Y70H|AC114877.3_ENST00000446601.1_lincRNA|LRRC3B_ENST00000456208.2_Missense_Mutation_p.Y70H	NM_052953.2	NP_443185.1	Q96PB8	LRC3B_HUMAN	leucine rich repeat containing 3B	70						integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|pancreas(2)|prostate(1)|skin(4)	21						AGTCTTACTGTATCTGGACTC	0.408																																						ENST00000396641.2																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|pancreas(2)|prostate(1)|skin(4)	21						c.(208-210)Tat>Cat		leucine rich repeat containing 3B							92	90	91					3																	26751371		2203	4300	6503	SO:0001583	missense	116135					integral to membrane		g.chr3:26751371T>C	AF396933	CCDS2644.1	3p24	2004-07-12			ENSG00000179796	ENSG00000179796			28105	protein-coding gene	gene with protein product							Standard	NM_052953		Approved	LRP15	uc003cdp.3	Q96PB8	OTTHUMG00000130572	ENST00000396641.2:c.208T>C	3.37:g.26751371T>C	ENSP00000379880:p.Tyr70His					LRRC3B_ENST00000417744.1_Missense_Mutation_p.Y70H|LRRC3B_ENST00000456208.2_Missense_Mutation_p.Y70H	p.Y70H	NM_052953.2	NP_443185.1	Q96PB8	LRC3B_HUMAN			2	800	+			70					Q5M8T0	Missense_Mutation	SNP	ENST00000396641.2	37	c.208T>C	CCDS2644.1	.	.	.	.	.	.	.	.	.	.	T	10.84	1.464453	0.26335	.	.	ENSG00000179796	ENST00000396641;ENST00000432040;ENST00000417744;ENST00000456208	D;D;D;D	0.90069	-2.61;-2.61;-2.61;-2.61	6.17	6.17	0.99709	.	0.239678	0.45606	D	0.000355	D	0.84293	0.5440	N	0.26162	0.8	0.43021	D	0.994578	B	0.27013	0.166	B	0.32149	0.141	T	0.81129	-0.1073	10	0.35671	T	0.21	-19.6826	16.0034	0.80327	0.0:0.0:0.0:1.0	.	70	Q96PB8	LRC3B_HUMAN	H	70	ENSP00000379880:Y70H;ENSP00000398184:Y70H;ENSP00000406370:Y70H;ENSP00000394940:Y70H	ENSP00000379880:Y70H	Y	+	1	0	LRRC3B	26726375	1.000000	0.71417	0.999000	0.59377	0.975000	0.68041	3.056000	0.49923	2.371000	0.80710	0.533000	0.62120	TAT		0.408	LRRC3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252997.2	NM_052953		13	59	0	0	0	1	0	13	59					C	26751371	T	C	26751371	3	2	435	1	0	0	0	0	1	0	0	0	8996	1638	57	4	210	4	LRRC3B	3	26751371	Missense_Mutation	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	931236	26751371	171271059	1701	22626											
CMC1	152100	broad.mit.edu	37	chr3	28304845	28304845	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aataatgagagaaaaggccaAagagaggtgttctgaacaag	19	6	12	4	0	1	4	0	2	1	2	1	6	1	4	1	2	1	1	1	2	7	2	rs368316365		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:28304845A>C	ENST00000466830.1	+	2	282	c.83A>C	c.(82-84)aAa>aCa	p.K28T	CMC1_ENST00000423894.1_Intron	NM_182523.1	NP_872329.1	Q7Z7K0	COXM1_HUMAN	C-x(9)-C motif containing 1	28						mitochondrion (GO:0005739)	metal ion binding (GO:0046872)			central_nervous_system(1)|kidney(1)|large_intestine(3)	5						GAAAAGGCCAAAGAGAGGTGT	0.303																																						ENST00000466830.1																			0				central_nervous_system(1)|kidney(1)|large_intestine(3)	5						c.(82-84)aAa>aCa		C-x(9)-C motif containing 1							54	59	57					3																	28304845		2203	4295	6498	SO:0001583	missense	152100					mitochondrion	metal ion binding	g.chr3:28304845A>C	BC052644	CCDS33722.1	3p24.1	2013-10-18	2013-10-18	2008-06-20	ENSG00000187118	ENSG00000187118			28783	protein-coding gene	gene with protein product		615166	"chromosome 3 open reading frame 68", "COX assembly mitochondrial protein 1 homolog (S. cerevisiae)"	C3orf68		18443040	Standard	NM_182523		Approved	MGC61571	uc003cea.3	Q7Z7K0	OTTHUMG00000155660	ENST00000466830.1:c.83A>C	3.37:g.28304845A>C	ENSP00000418348:p.Lys28Thr					CMC1_ENST00000423894.1_Intron	p.K28T	NM_182523.1	NP_872329.1	Q7Z7K0	COXAM_HUMAN			2	282	+			28					Q68DJ7	Missense_Mutation	SNP	ENST00000466830.1	37	c.83A>C	CCDS33722.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	a|a	13.99|13.99	2.401133|2.401133	0.42613|0.42613	.|.	.|.	ENSG00000187118|ENSG00000187118	ENST00000466830|ENST00000418849	T|.	0.44083|.	0.93|.	5.93|5.93	-0.0702|-0.0702	0.13748|0.13748	.|.	0.332135|.	0.39544|.	N|.	0.001331|.	T|T	0.71508|0.71508	0.3348|0.3348	M|M	0.80422|0.80422	2.495|2.495	0.80722|0.80722	D|D	1|1	B|.	0.20887|.	0.049|.	B|.	0.27262|.	0.078|.	T|T	0.70502|0.70502	-0.4854|-0.4854	10|5	0.72032|.	D|.	0.01|.	-6.592|-6.592	11.4867|11.4867	0.50358|0.50358	0.4077:0.0:0.5923:0.0|0.4077:0.0:0.5923:0.0	.|.	28|.	Q7Z7K0|.	COXAM_HUMAN|.	T|H	28|34	ENSP00000418348:K28T|.	ENSP00000418348:K28T|.	K|Q	+|+	2|3	0|2	CMC1|CMC1	28279849|28279849	0.967000|0.967000	0.33354|0.33354	0.955000|0.955000	0.39395|0.39395	0.957000|0.957000	0.61999|0.61999	0.324000|0.324000	0.19610|0.19610	-0.075000|-0.075000	0.12798|0.12798	-1.257000|-1.257000	0.01473|0.01473	AAA|CAA		0.303	CMC1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341087.1	NM_182523		20	36	0	0	0	1	0	20	36					C	28304845	A	C	28304845	3	2	435	1	0	0	0	0	1	0	0	0	3577	14	1	5	89	5	CMC1	3	28304845	Missense_Mutation	SNP	A	TCGA-XK-AAIW-01A-11D-A41K-08	1553474	28304845	169717585	1702	22627											
ZCWPW2	152098	broad.mit.edu	37	chr3	28562551	28562551	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcaagcactgcaacccacaGccacacctgatgaatcagaa	16	4	7	14	0	1	3	1	2	0	1	1	3	1	3	3	0	5	3	3	0	4	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:28562551G>A	ENST00000383768.2	+	9	1041	c.853G>A	c.(853-855)Gcc>Acc	p.A285T	ZCWPW2_ENST00000421010.1_Missense_Mutation_p.A285T			Q504Y3	ZCPW2_HUMAN	zinc finger, CW type with PWWP domain 2	285							zinc ion binding (GO:0008270)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(6)|ovary(2)	17						GCAACCCACAGCCACACCTGA	0.368																																						ENST00000383768.2																			0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(6)|ovary(2)	17						c.(853-855)Gcc>Acc		zinc finger, CW type with PWWP domain 2							84	79	81					3																	28562551		2203	4300	6503	SO:0001583	missense	152098						zinc ion binding	g.chr3:28562551G>A	BC065764	CCDS33723.1	3p23	2005-08-22			ENSG00000206559	ENSG00000206559			23574	protein-coding gene	gene with protein product						14607086	Standard	XM_005264892		Approved	ZCW2	uc003cei.3	Q504Y3	OTTHUMG00000155705	ENST00000383768.2:c.853G>A	3.37:g.28562551G>A	ENSP00000373278:p.Ala285Thr					ZCWPW2_ENST00000421010.1_Missense_Mutation_p.A285T	p.A285T			Q504Y3	ZCPW2_HUMAN			9	1041	+			285						Missense_Mutation	SNP	ENST00000383768.2	37	c.853G>A	CCDS33723.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.36|11.36	1.614411|1.614411	0.28712|0.28712	.|.	.|.	ENSG00000206559|ENSG00000206559	ENST00000383768;ENST00000421010|ENST00000419130	T;T|.	0.33654|.	1.4;1.4|.	5.64|5.64	2.52|2.52	0.30459|0.30459	.|.	0.766557|.	0.11883|.	N|.	0.520352|.	T|T	0.19005|0.19005	0.0456|0.0456	N|N	0.12746|0.12746	0.255|0.255	0.09310|0.09310	N|N	1|1	B|.	0.02656|.	0.0|.	B|.	0.04013|.	0.001|.	T|T	0.22521|0.22521	-1.0214|-1.0214	10|5	0.02654|.	T|.	1|.	-3.8562|-3.8562	5.7408|5.7408	0.18092|0.18092	0.3673:0.0:0.6327:0.0|0.3673:0.0:0.6327:0.0	.|.	285|.	Q504Y3|.	ZCPW2_HUMAN|.	T|N	285|169	ENSP00000373278:A285T;ENSP00000412386:A285T|.	ENSP00000373278:A285T|.	A|S	+|+	1|2	0|0	ZCWPW2|ZCWPW2	28537555|28537555	0.001000|0.001000	0.12720|0.12720	0.142000|0.142000	0.22268|0.22268	0.009000|0.009000	0.06853|0.06853	0.986000|0.986000	0.29590|0.29590	0.750000|0.750000	0.32877|0.32877	-0.143000|-0.143000	0.13931|0.13931	GCC|AGC		0.368	ZCWPW2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341318.1	XM_087384		10	16	0	0	0	1	0	10	16					A	28562551	G	A	28562551	3	1	435	1	0	0	0	0	1	0	0	0	17595	971	34	3	879	3	ZCWPW2	3	28562551	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	257706	28562551	169459879	1703	22628											
GADL1	339896	broad.mit.edu	37	chr3	30880563	30880563	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agggtcaaaagctcccaacaCagttgtaccagaagtggcac	14	6	10	11	0	1	1	1	0	0	1	2	1	2	1	2	2	3	4	2	2	5	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:30880563C>T	ENST00000282538.5	-	9	979	c.829G>A	c.(829-831)Gtg>Atg	p.V277M	GADL1_ENST00000454381.3_Missense_Mutation_p.V277M	NM_207359.2	NP_997242.2	Q6ZQY3	GADL1_HUMAN	glutamate decarboxylase-like 1	277					carboxylic acid metabolic process (GO:0019752)		aspartate 1-decarboxylase activity (GO:0004068)|pyridoxal phosphate binding (GO:0030170)|sulfinoalanine decarboxylase activity (GO:0004782)			breast(2)|endometrium(3)|kidney(2)|lung(17)|upper_aerodigestive_tract(1)	25						GCTCCCAACACAGTTGTACCA	0.448																																						ENST00000454381.3																			0				breast(2)|endometrium(3)|kidney(2)|lung(17)|upper_aerodigestive_tract(1)	25						c.(829-831)Gtg>Atg		glutamate decarboxylase-like 1	Pyridoxal Phosphate(DB00114)						89	82	85					3																	30880563		2203	4300	6503	SO:0001583	missense	339896				carboxylic acid metabolic process		carboxy-lyase activity|pyridoxal phosphate binding	g.chr3:30880563C>T	AK128643	CCDS2649.2	3p23-p22	2009-01-14			ENSG00000144644	ENSG00000144644			27949	protein-coding gene	gene with protein product		615601					Standard	NM_207359		Approved		uc003cep.2	Q6ZQY3	OTTHUMG00000130621	ENST00000282538.5:c.829G>A	3.37:g.30880563C>T	ENSP00000282538:p.Val277Met					GADL1_ENST00000282538.5_Missense_Mutation_p.V277M	p.V277M			Q6ZQY3	GADL1_HUMAN			9	875	-			277						Missense_Mutation	SNP	ENST00000282538.5	37	c.829G>A	CCDS2649.2	.	.	.	.	.	.	.	.	.	.	C	29.5	5.010098	0.93346	.	.	ENSG00000144644	ENST00000282538;ENST00000454381	T;T	0.38560	1.13;1.13	5.63	5.63	0.86233	Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.127611	0.50627	D	0.000115	T	0.77994	0.4214	H	0.96576	3.845	0.58432	D	0.999998	D	0.89917	1.0	D	0.80764	0.994	D	0.84806	0.0787	10	0.72032	D	0.01	-13.1067	20.0294	0.97532	0.0:1.0:0.0:0.0	.	277	Q6ZQY3	GADL1_HUMAN	M	277	ENSP00000282538:V277M;ENSP00000427059:V277M	ENSP00000282538:V277M	V	-	1	0	GADL1	30855567	1.000000	0.71417	0.642000	0.29436	0.996000	0.88848	7.445000	0.80570	2.814000	0.96858	0.655000	0.94253	GTG		0.448	GADL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253106.2	NM_207359		17	35	0	0	0	1	0	17	35					T	30880563	C	T	30880563	3	4	435	1	0	0	0	0	1	0	0	0	6185	478	17	3	764	3	GADL1	3	30880563	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	2318012	30880563	167141867	1704	22629											
OSBPL10	114884	broad.mit.edu	37	chr3	31921246	31921246	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tccagataaagacaggactcCtcgaggcttctggtgtttgc	9	11	11	10	1	1	2	0	0	1	2	4	4	3	3	2	3	1	2	2	3	2	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:31921246C>A	ENST00000396556.2	-	2	480	c.358G>T	c.(358-360)Gga>Tga	p.G120*	OSBPL10_ENST00000438237.2_Nonsense_Mutation_p.G120*	NM_017784.4	NP_060254.2	Q9BXB5	OSB10_HUMAN	oxysterol binding protein-like 10	120	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				lipid transport (GO:0006869)		cholesterol binding (GO:0015485)			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	34				STAD - Stomach adenocarcinoma(1;0.00406)		GACAGGACTCCTCGAGGCTTC	0.488																																						ENST00000396556.2																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						c.(358-360)Gga>Tga		oxysterol binding protein-like 10							90	84	86					3																	31921246		2203	4300	6503	SO:0001587	stop_gained	114884				lipid transport		lipid binding	g.chr3:31921246C>A	AF392451	CCDS2651.1, CCDS54559.1	3p23	2013-01-10			ENSG00000144645	ENSG00000144645		"Oxysterol binding proteins", "Pleckstrin homology (PH) domain containing"	16395	protein-coding gene	gene with protein product		606738					Standard	NM_001174060		Approved		uc021wuu.1	Q9BXB5	OTTHUMG00000130672	ENST00000396556.2:c.358G>T	3.37:g.31921246C>A	ENSP00000379804:p.Gly120*					OSBPL10_ENST00000438237.2_Nonsense_Mutation_p.G120*	p.G120*	NM_017784.4	NP_060254.2	Q9BXB5	OSB10_HUMAN		STAD - Stomach adenocarcinoma(1;0.00406)	2	480	-			120			PH.		B4E212|Q9BTU5	Nonsense_Mutation	SNP	ENST00000396556.2	37	c.358G>T	CCDS2651.1	.	.	.	.	.	.	.	.	.	.	C	37	6.016176	0.97205	.	.	ENSG00000144645	ENST00000396556;ENST00000438237	.	.	.	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-11.6073	19.4143	0.94688	0.0:1.0:0.0:0.0	.	.	.	.	X	120	.	ENSP00000379804:G120X	G	-	1	0	OSBPL10	31896250	1.000000	0.71417	0.962000	0.40283	0.830000	0.47004	7.818000	0.86416	2.589000	0.87451	0.561000	0.74099	GGA		0.488	OSBPL10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253165.2			5	34	1	0	0.014758	1	0.0148771	5	34					A	31921246	C	A	31921246	4	1	435	1	0	0	0	0	0	1	0	0	11275	690	24	5	1980	5	OSBPL10	3	31921246	Nonsense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	1040683	31921246	166101184	1705	22630											
GPD1L	23171	broad.mit.edu	37	chr3	32180128	32180128	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaggatgcagacctgctggTgtttgtcattccccaccagt	7	11	11	12	0	1	1	1	0	0	1	2	2	2	2	4	2	2	4	4	2	0	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:32180128T>C	ENST00000282541.5	+	3	476	c.275T>C	c.(274-276)gTg>gCg	p.V92A		NM_015141.3	NP_055956.1	Q8N335	GPD1L_HUMAN	glycerol-3-phosphate dehydrogenase 1-like	92					carbohydrate metabolic process (GO:0005975)|cellular lipid metabolic process (GO:0044255)|glycerol-3-phosphate catabolic process (GO:0046168)|glycerophospholipid biosynthetic process (GO:0046474)|NAD metabolic process (GO:0019674)|NADH metabolic process (GO:0006734)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|negative regulation of protein kinase C signaling (GO:0090038)|phosphatidic acid biosynthetic process (GO:0006654)|phospholipid metabolic process (GO:0006644)|positive regulation of protein localization to cell surface (GO:2000010)|positive regulation of sodium ion transport (GO:0010765)|regulation of heart rate (GO:0002027)|regulation of sodium ion transmembrane transporter activity (GO:2000649)|regulation of ventricular cardiac muscle cell membrane depolarization (GO:0060373)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|ventricular cardiac muscle cell action potential (GO:0086005)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|glycerol-3-phosphate dehydrogenase complex (GO:0009331)|plasma membrane (GO:0005886)	glycerol-3-phosphate dehydrogenase [NAD+] activity (GO:0004367)|ion channel binding (GO:0044325)|NAD binding (GO:0051287)|sodium channel regulator activity (GO:0017080)			large_intestine(4)|lung(7)|ovary(1)	12						GACCTGCTGGTGTTTGTCATT	0.493																																						ENST00000282541.5																			0				large_intestine(4)|lung(7)|ovary(1)	12						c.(274-276)gTg>gCg		glycerol-3-phosphate dehydrogenase 1-like							163	152	156					3																	32180128		2203	4300	6503	SO:0001583	missense	23171				glycerol-3-phosphate catabolic process	glycerol-3-phosphate dehydrogenase complex	glycerol-3-phosphate dehydrogenase|NAD binding|protein homodimerization activity	g.chr3:32180128T>C	D42047	CCDS33729.1	3p22.3	2014-09-17			ENSG00000152642	ENSG00000152642			28956	protein-coding gene	gene with protein product		611778				7788527	Standard	NM_015141		Approved	KIAA0089	uc003cew.3	Q8N335	OTTHUMG00000155846	ENST00000282541.5:c.275T>C	3.37:g.32180128T>C	ENSP00000282541:p.Val92Ala						p.V92A	NM_015141.3	NP_055956.1	Q8N335	GPD1L_HUMAN			3	476	+			92					A8K9U3|Q14702|Q9BRM5	Missense_Mutation	SNP	ENST00000282541.5	37	c.275T>C	CCDS33729.1	.	.	.	.	.	.	.	.	.	.	T	33	5.223296	0.95139	.	.	ENSG00000152642	ENST00000429432;ENST00000282541;ENST00000431009	T;T;T	0.65549	-0.16;-0.16;-0.16	5.63	5.63	0.86233	Glycerol-3-phosphate dehydrogenase, NAD-dependent, N-terminal (1);NAD(P)-binding domain (1);	0.054228	0.64402	D	0.000001	T	0.81351	0.4804	M	0.92970	3.365	0.80722	D	1	P	0.35208	0.49	P	0.50049	0.629	D	0.84403	0.0561	10	0.87932	D	0	-35.7938	16.1325	0.81454	0.0:0.0:0.0:1.0	.	92	Q8N335	GPD1L_HUMAN	A	53;92;53	ENSP00000393861:V53A;ENSP00000282541:V92A;ENSP00000416518:V53A	ENSP00000282541:V92A	V	+	2	0	GPD1L	32155132	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.908000	0.87438	2.274000	0.75844	0.533000	0.62120	GTG		0.493	GPD1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341975.2	NM_015141		40	49	0	0	0	1	0	40	49					C	32180128	T	C	32180128	3	2	435	1	0	0	0	0	1	0	0	0	6605	1696	59	4	285	4	GPD1L	3	32180128	Missense_Mutation	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	258882	32180128	165842302	1706	22631											
CNOT10	25904	broad.mit.edu	37	chr3	32811431	32811431	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctgaggccatcttgctggCagtctaccttgaactgcaga	8	10	10	13	0	2	3	0	2	2	1	2	3	2	3	3	2	4	3	3	2	2	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:32811431C>T	ENST00000328834.5	+	18	2373	c.2057C>T	c.(2056-2058)gCa>gTa	p.A686V	CNOT10_ENST00000331889.6_Missense_Mutation_p.A659V|CNOT10_ENST00000454516.2_Missense_Mutation_p.A746V	NM_015442.2	NP_056257.1	Q9H9A5	CNO10_HUMAN	CCR4-NOT transcription complex, subunit 10	686					gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|transcription, DNA-templated (GO:0006351)	CCR4-NOT complex (GO:0030014)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(3)	23						ATCTTGCTGGCAGTCTACCTT	0.453																																						ENST00000328834.5																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(3)	23						c.(2056-2058)gCa>gTa		CCR4-NOT transcription complex, subunit 10							125	125	125					3																	32811431		2203	4300	6503	SO:0001583	missense	25904				nuclear-transcribed mRNA poly(A) tail shortening	cytosol	protein binding	g.chr3:32811431C>T	BC002928	CCDS2655.1, CCDS58821.1, CCDS58822.1	3p23	2013-01-10			ENSG00000182973	ENSG00000182973		"Tetratricopeptide (TTC) repeat domain containing"	23817	protein-coding gene	gene with protein product							Standard	NR_046352		Approved	FLJ12890, FLJ13165	uc011axj.2	Q9H9A5	OTTHUMG00000130748	ENST00000328834.5:c.2057C>T	3.37:g.32811431C>T	ENSP00000330060:p.Ala686Val					CNOT10_ENST00000454516.2_Missense_Mutation_p.A746V|CNOT10_ENST00000331889.6_Missense_Mutation_p.A659V	p.A686V	NM_015442.2	NP_056257.1	Q9H9A5	CNOTA_HUMAN			18	2373	+			686					B7Z7L1|F8WAF2|Q9BU30|Q9H5J7|Q9H8X1|Q9H9W0|Q9HAH3|Q9UFJ2	Missense_Mutation	SNP	ENST00000328834.5	37	c.2057C>T	CCDS2655.1	.	.	.	.	.	.	.	.	.	.	C	28.2	4.896657	0.91962	.	.	ENSG00000182973	ENST00000331889;ENST00000328834;ENST00000454516;ENST00000430408	T;T;T	0.28666	1.6;1.6;1.6	5.61	5.61	0.85477	Tetratricopeptide-like helical (1);	0.047783	0.85682	D	0.000000	T	0.41811	0.1175	L	0.43923	1.385	0.80722	D	1	P;P;P;P	0.51653	0.947;0.933;0.933;0.89	P;P;P;B	0.52386	0.697;0.623;0.674;0.419	T	0.05699	-1.0869	10	0.39692	T	0.17	-14.0521	19.6512	0.95812	0.0:1.0:0.0:0.0	.	746;659;685;686	F8WAF2;Q9H9A5-3;Q9H9A5-2;Q9H9A5	.;.;.;CNOTA_HUMAN	V	659;686;746;221	ENSP00000329376:A659V;ENSP00000330060:A686V;ENSP00000399862:A746V	ENSP00000330060:A686V	A	+	2	0	CNOT10	32786435	1.000000	0.71417	0.959000	0.39883	0.997000	0.91878	6.374000	0.73132	2.646000	0.89796	0.563000	0.77884	GCA		0.453	CNOT10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253248.2	NM_015442		26	34	0	0	0	1	0	26	34					T	32811431	C	T	32811431	3	4	435	1	0	0	0	0	1	0	0	0	3618	710	25	3	2127	3	CNOT10	3	32811431	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	631303	32811431	165210999	1707	22632											
TRIM71	131405	broad.mit.edu	37	chr3	32932570	32932570	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctacatcattgtcgccgaccGcagcaacaaccgcatccagg	11	6	8	16	4	1	0	1	0	0	0	3	1	2	0	4	1	4	3	4	1	3	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:32932570G>A	ENST00000383763.5	+	4	1937	c.1874G>A	c.(1873-1875)cGc>cAc	p.R625H		NM_001039111.1	NP_001034200.1	Q2Q1W2	LIN41_HUMAN	tripartite motif containing 71, E3 ubiquitin protein ligase	625					fibroblast growth factor receptor signaling pathway (GO:0008543)|G1/S transition of mitotic cell cycle (GO:0000082)|miRNA metabolic process (GO:0010586)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neural tube closure (GO:0001843)|neural tube development (GO:0021915)|positive regulation of gene silencing by miRNA (GO:2000637)|protein autoubiquitination (GO:0051865)|regulation of gene silencing by miRNA (GO:0060964)|regulation of neural precursor cell proliferation (GO:2000177)|stem cell proliferation (GO:0072089)	cytoplasmic mRNA processing body (GO:0000932)	ligase activity (GO:0016874)|miRNA binding (GO:0035198)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						GTCGCCGACCGCAGCAACAAC	0.652																																						ENST00000383763.4																			0				breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						c.(1873-1875)cGc>cAc		tripartite motif containing 71, E3 ubiquitin protein ligase							28	33	31					3																	32932570		2144	4249	6393	SO:0001583	missense	131405				multicellular organismal development	cytoplasm	zinc ion binding	g.chr3:32932570G>A		CCDS43060.1	3p22.3	2014-02-17	2012-02-29		ENSG00000206557	ENSG00000206557		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	32669	protein-coding gene	gene with protein product			"tripartite motif-containing 71", "tripartite motif containing 71"				Standard	NM_001039111		Approved	LIN41, LIN-41	uc003cff.3	Q2Q1W2	OTTHUMG00000155778	ENST00000383763.5:c.1874G>A	3.37:g.32932570G>A	ENSP00000373272:p.Arg625His						p.R625H	NM_001039111.1	NP_001034200.1	Q2Q1W2	LIN41_HUMAN			4	1937	+			625						Missense_Mutation	SNP	ENST00000383763.5	37	c.1874G>A	CCDS43060.1	.	.	.	.	.	.	.	.	.	.	G	23.6	4.437747	0.83885	.	.	ENSG00000206557	ENST00000383763	T	0.73047	-0.71	5.83	5.83	0.93111	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.85682	D	0.000000	D	0.84593	0.5506	M	0.77486	2.375	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.82786	-0.0285	10	0.37606	T	0.19	-41.8803	18.6812	0.91547	0.0:0.0:1.0:0.0	.	625	Q2Q1W2	LIN41_HUMAN	H	625	ENSP00000373272:R625H	ENSP00000373272:R625H	R	+	2	0	TRIM71	32907574	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	9.869000	0.99810	2.767000	0.95098	0.650000	0.86243	CGC		0.652	TRIM71-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341565.3	NM_001039111		10	9	0	0	0	1	0	10	9					A	32932570	G	A	32932570	3	1	435	1	0	0	0	0	1	0	0	0	16541	1087	38	1	1888	1	TRIM71	3	32932570	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	121139	32932570	165089860	1708	22633											
TRIM71	131405	broad.mit.edu	37	chr3	32933082	32933082	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caggcaatgggcagttcctgCgcccacaaggggtagctgtg	8	7	15	11	1	0	0	0	0	0	0	1	0	1	0	2	4	2	5	2	4	3	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:32933082C>T	ENST00000383763.5	+	4	2449	c.2386C>T	c.(2386-2388)Cgc>Tgc	p.R796C		NM_001039111.1	NP_001034200.1	Q2Q1W2	LIN41_HUMAN	tripartite motif containing 71, E3 ubiquitin protein ligase	796					fibroblast growth factor receptor signaling pathway (GO:0008543)|G1/S transition of mitotic cell cycle (GO:0000082)|miRNA metabolic process (GO:0010586)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neural tube closure (GO:0001843)|neural tube development (GO:0021915)|positive regulation of gene silencing by miRNA (GO:2000637)|protein autoubiquitination (GO:0051865)|regulation of gene silencing by miRNA (GO:0060964)|regulation of neural precursor cell proliferation (GO:2000177)|stem cell proliferation (GO:0072089)	cytoplasmic mRNA processing body (GO:0000932)	ligase activity (GO:0016874)|miRNA binding (GO:0035198)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						GCAGTTCCTGCGCCCACAAGG	0.592																																						ENST00000383763.4																			0				breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						c.(2386-2388)Cgc>Tgc		tripartite motif containing 71, E3 ubiquitin protein ligase							62	67	65					3																	32933082		2027	4199	6226	SO:0001583	missense	131405				multicellular organismal development	cytoplasm	zinc ion binding	g.chr3:32933082C>T		CCDS43060.1	3p22.3	2014-02-17	2012-02-29		ENSG00000206557	ENSG00000206557		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	32669	protein-coding gene	gene with protein product			"tripartite motif-containing 71", "tripartite motif containing 71"				Standard	NM_001039111		Approved	LIN41, LIN-41	uc003cff.3	Q2Q1W2	OTTHUMG00000155778	ENST00000383763.5:c.2386C>T	3.37:g.32933082C>T	ENSP00000373272:p.Arg796Cys						p.R796C	NM_001039111.1	NP_001034200.1	Q2Q1W2	LIN41_HUMAN			4	2449	+			796						Missense_Mutation	SNP	ENST00000383763.5	37	c.2386C>T	CCDS43060.1	.	.	.	.	.	.	.	.	.	.	C	15.53	2.861440	0.51482	.	.	ENSG00000206557	ENST00000383763	T	0.72615	-0.67	5.81	5.81	0.92471	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.85682	D	0.000000	T	0.81559	0.4848	L	0.55990	1.75	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.78969	-0.1994	10	0.38643	T	0.18	-25.8896	18.6466	0.91413	0.0:1.0:0.0:0.0	.	796	Q2Q1W2	LIN41_HUMAN	C	796	ENSP00000373272:R796C	ENSP00000373272:R796C	R	+	1	0	TRIM71	32908086	1.000000	0.71417	0.998000	0.56505	0.119000	0.20118	7.737000	0.84957	2.744000	0.94065	0.655000	0.94253	CGC		0.592	TRIM71-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341565.3	NM_001039111		25	45	0	0	0	1	0	25	45					T	32933082	C	T	32933082	3	4	435	1	0	0	0	0	1	0	0	0	16541	768	27	1	2400	1	TRIM71	3	32933082	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	512	32933082	165089348	1709	22634											
GLB1	2720	broad.mit.edu	37	chr3	33099744	33099744	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaatcacaggcaaagtagctGccatattcattttcaacctg	14	11	6	10	0	3	0	3	0	0	0	3	0	3	0	2	1	3	3	2	1	5	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:33099744G>A	ENST00000399402.3	-	6	611	c.480C>T	c.(478-480)ggC>ggT	p.G160G	GLB1_ENST00000307363.5_Silent_p.G190G|GLB1_ENST00000445488.2_Silent_p.G238G|GLB1_ENST00000307377.8_Intron	NM_001079811.1	NP_001073279	P16278	BGAL_HUMAN	galactosidase, beta 1	190					carbohydrate metabolic process (GO:0005975)|galactose catabolic process (GO:0019388)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|glycosphingolipid metabolic process (GO:0006687)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)	beta-galactosidase activity (GO:0004565)|galactoside binding (GO:0016936)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	21		Melanoma(143;0.104)				CAAAGTAGCTGCCATATTCAT	0.458																																						ENST00000307363.5																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	21						c.(568-570)ggC>ggT		galactosidase, beta 1							29	31	30					3																	33099744		1852	4101	5953	SO:0001819	synonymous_variant	2720				carbohydrate metabolic process	lysosome|perinuclear region of cytoplasm	beta-galactosidase activity|cation binding|protein binding	g.chr3:33099744G>A	M22590	CCDS43061.1, CCDS43062.1, CCDS46785.1	3p22.3	2012-10-02			ENSG00000170266	ENSG00000170266	3.2.1.23		4298	protein-coding gene	gene with protein product		611458	"elastin receptor 1, 67kDa", "elastin receptor 1 (67kD)"	ELNR1		110522, 3143362	Standard	NM_000404		Approved	EBP	uc003cfi.1	P16278	OTTHUMG00000155781	ENST00000399402.3:c.480C>T	3.37:g.33099744G>A						GLB1_ENST00000399402.3_Silent_p.G160G|GLB1_ENST00000445488.2_Silent_p.G238G|GLB1_ENST00000307377.8_Intron	p.G190G	NM_000404.2	NP_000395.2	P16278	BGAL_HUMAN			6	714	-		Melanoma(143;0.104)	190		G -> D (in GM1G1; 3.4% of wild-type enzyme activity).			B2R7H8|B7Z6B0|P16279	Silent	SNP	ENST00000399402.3	37	c.570C>T	CCDS43062.1																																																																																				0.458	GLB1-002	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000341570.2	NM_000404		12	25	0	0	0	1	0	12	25					A	33099744	G	A	33099744	2	1	435	1	0	0	0	0	0	0	0	1	6427	1306	46	3		3	GLB1	3	33099744	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	166662	33099744	164922686	1710	22635											
GLB1	2720	broad.mit.edu	37	chr3	33109737	33109737	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctacctgggtcggaggagcGgagaagaatagactctttct	10	9	13	9	2	2	3	0	0	2	3	3	6	2	5	2	4	2	0	2	4	4	3	rs192732174		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:33109737G>A	ENST00000399402.3	-	4	483	c.352C>T	c.(352-354)Cgc>Tgc	p.R118C	GLB1_ENST00000307363.5_Missense_Mutation_p.R148C|GLB1_ENST00000445488.2_Missense_Mutation_p.R196C|GLB1_ENST00000307377.8_Intron	NM_001079811.1	NP_001073279	P16278	BGAL_HUMAN	galactosidase, beta 1	148					carbohydrate metabolic process (GO:0005975)|galactose catabolic process (GO:0019388)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|glycosphingolipid metabolic process (GO:0006687)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)	beta-galactosidase activity (GO:0004565)|galactoside binding (GO:0016936)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	21		Melanoma(143;0.104)				TCGGAGGAGCGGAGAAGAATA	0.483																																						ENST00000307363.5																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	21	GRCh37	CM000711|CM056963	GLB1	M	rs192732174	c.(442-444)Cgc>Tgc		galactosidase, beta 1							88	88	88					3																	33109737		1868	4091	5959	SO:0001583	missense	2720				carbohydrate metabolic process	lysosome|perinuclear region of cytoplasm	beta-galactosidase activity|cation binding|protein binding	g.chr3:33109737G>A	M22590	CCDS43061.1, CCDS43062.1, CCDS46785.1	3p22.3	2012-10-02			ENSG00000170266	ENSG00000170266	3.2.1.23		4298	protein-coding gene	gene with protein product		611458	"elastin receptor 1, 67kDa", "elastin receptor 1 (67kD)"	ELNR1		110522, 3143362	Standard	NM_000404		Approved	EBP	uc003cfi.1	P16278	OTTHUMG00000155781	ENST00000399402.3:c.352C>T	3.37:g.33109737G>A	ENSP00000382333:p.Arg118Cys					GLB1_ENST00000399402.3_Missense_Mutation_p.R118C|GLB1_ENST00000445488.2_Missense_Mutation_p.R196C|GLB1_ENST00000307377.8_Intron	p.R148C	NM_000404.2	NP_000395.2	P16278	BGAL_HUMAN			4	586	-		Melanoma(143;0.104)	148		R -> C (in GM1G3).|R -> S (in GM1G1).			B2R7H8|B7Z6B0|P16279	Missense_Mutation	SNP	ENST00000399402.3	37	c.442C>T	CCDS43062.1	.	.	.	.	.	.	.	.	.	.	G	17.30	3.355782	0.61293	.	.	ENSG00000170266	ENST00000399402;ENST00000307363;ENST00000445488;ENST00000440656	D;D;D;D	0.99671	-6.35;-6.35;-6.35;-6.35	5.26	5.26	0.73747	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.000000	0.85682	D	0.000000	D	0.99782	0.9909	H	0.98048	4.135	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.97078	0.9782	10	0.87932	D	0	-14.6958	13.4673	0.61263	0.0:0.0:0.8023:0.1976	.	148;148;196	Q53G40;P16278;B7Z6Q5	.;BGAL_HUMAN;.	C	118;148;196;17	ENSP00000382333:R118C;ENSP00000306920:R148C;ENSP00000393377:R196C;ENSP00000411769:R17C	ENSP00000306920:R148C	R	-	1	0	GLB1	33084741	1.000000	0.71417	1.000000	0.80357	0.309000	0.27889	4.658000	0.61497	2.458000	0.83093	0.591000	0.81541	CGC		0.483	GLB1-002	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000341570.2	NM_000404		21	27	0	0	0	1	0	21	27					A	33109737	G	A	33109737	3	1	435	1	0	0	0	0	1	0	0	0	6427	1116	39	2	1643	2	GLB1	3	33109737	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	9993	33109737	164912693	1711	22636											
CRTAP	10491	broad.mit.edu	37	chr3	33174149	33174149	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggtgtattaccagtaccacaGggacacttggggcctctcgg	8	9	13	11	1	1	0	0	0	1	0	2	1	1	1	3	5	2	2	3	5	3	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:33174149G>T	ENST00000320954.6	+	5	1124	c.1025G>T	c.(1024-1026)aGg>aTg	p.R342M	CRTAP_ENST00000449224.1_Missense_Mutation_p.R299M	NM_006371.4	NP_006362.1	O75718	CRTAP_HUMAN	cartilage associated protein	342					chaperone-mediated protein folding (GO:0061077)|extracellular matrix organization (GO:0030198)|negative regulation of post-translational protein modification (GO:1901874)|peptidyl-proline hydroxylation to 3-hydroxy-L-proline (GO:0018400)|protein stabilization (GO:0050821)|spermatogenesis (GO:0007283)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|extracellular space (GO:0005615)|macromolecular complex (GO:0032991)|proteinaceous extracellular matrix (GO:0005578)	protein complex binding (GO:0032403)			breast(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	9						CAGTACCACAGGGACACTTGG	0.517																																						ENST00000320954.6																			0				breast(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	9						c.(1024-1026)aGg>aTg		cartilage associated protein							152	134	140					3																	33174149		2203	4300	6503	SO:0001583	missense	10491					proteinaceous extracellular matrix	binding	g.chr3:33174149G>T	AJ006470	CCDS2657.1	3p22	2014-09-17			ENSG00000170275	ENSG00000170275			2379	protein-coding gene	gene with protein product	"leprecan-like 3"	605497				9217321, 10429950	Standard	NM_006371		Approved	CASP, LEPREL3	uc003cfl.4	O75718	OTTHUMG00000130746	ENST00000320954.6:c.1025G>T	3.37:g.33174149G>T	ENSP00000323696:p.Arg342Met					CRTAP_ENST00000449224.1_Missense_Mutation_p.R299M	p.R342M	NM_006371.4	NP_006362.1	O75718	CRTAP_HUMAN			5	1124	+			342					B2RBL6	Missense_Mutation	SNP	ENST00000320954.6	37	c.1025G>T	CCDS2657.1	.	.	.	.	.	.	.	.	.	.	G	17.50	3.405524	0.62288	.	.	ENSG00000170275	ENST00000320954;ENST00000539684;ENST00000449224	T;T	0.60299	0.33;0.2	5.48	2.69	0.31865	.	0.093386	0.64402	D	0.000001	T	0.58337	0.2115	L	0.50333	1.59	0.40250	D	0.978057	D;D	0.56035	0.974;0.974	P;P	0.56514	0.8;0.8	T	0.56613	-0.7950	10	0.34782	T	0.22	-0.5788	6.0594	0.19828	0.4261:0.0:0.5739:0.0	.	299;342	C9JP16;O75718	.;CRTAP_HUMAN	M	342;329;299	ENSP00000323696:R342M;ENSP00000409997:R299M	ENSP00000323696:R342M	R	+	2	0	CRTAP	33149153	1.000000	0.71417	1.000000	0.80357	0.506000	0.33950	2.124000	0.42006	1.327000	0.45338	0.561000	0.74099	AGG		0.517	CRTAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253246.3			31	50	1	0	1.08312e-15	1	1.18619e-15	31	50					T	33174149	G	T	33174149	3	4	435	1	0	0	0	0	1	0	0	0	3898	1000	35	5	1043	5	CRTAP	3	33174149	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	64412	33174149	164848281	1712	22637											
SUSD5	26032	broad.mit.edu	37	chr3	33194726	33194726	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggtagagttgactggtacttCgtcaagtcaccatccccaat	10	11	9	11	1	2	2	2	1	0	1	4	2	3	2	3	2	1	3	3	2	4	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:33194726C>T	ENST00000309558.3	-	5	1815	c.1398G>A	c.(1396-1398)acG>acA	p.T466T		NM_015551.1	NP_056366.1	O60279	SUSD5_HUMAN	sushi domain containing 5	466					cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)	hyaluronic acid binding (GO:0005540)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						ACTGGTACTTCGTCAAGTCAC	0.507																																						ENST00000309558.3																			0				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						c.(1396-1398)acG>acA		sushi domain containing 5							96	97	97					3																	33194726		2007	4175	6182	SO:0001819	synonymous_variant	26032				cell adhesion	integral to membrane	hyaluronic acid binding	g.chr3:33194726C>T	AB011099	CCDS46787.1	3p23	2014-02-12	2006-01-13		ENSG00000173705	ENSG00000173705			29061	protein-coding gene	gene with protein product							Standard	NM_015551		Approved	KIAA0527	uc003cfo.1	O60279	OTTHUMG00000155829	ENST00000309558.3:c.1398G>A	3.37:g.33194726C>T							p.T466T	NM_015551.1	NP_056366.1	O60279	SUSD5_HUMAN			5	1815	-			466						Silent	SNP	ENST00000309558.3	37	c.1398G>A	CCDS46787.1																																																																																				0.507	SUSD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341902.1	XM_171054		18	33	0	0	0	1	0	18	33					T	33194726	C	T	33194726	2	4	435	1	0	0	0	0	0	0	0	1	15408	871	31	2		2	SUSD5	3	33194726	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	20577	33194726	164827704	1713	22638											
FBXL2	25827	broad.mit.edu	37	chr3	33415377	33415377	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	aaacacattcagaattactgCcatgagcttgtgagcctcaa	14	10	7	10	0	2	3	2	2	0	1	2	3	2	3	2	0	5	1	2	0	4	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:33415377C>T	ENST00000484457.1	+	9	712	c.621C>T	c.(619-621)tgC>tgT	p.C207C	FBXL2_ENST00000538892.1_Silent_p.C139C|FBXL2_ENST00000507198.1_Silent_p.C139C|FBXL2_ENST00000446237.3_5'UTR|FBXL2_ENST00000538181.1_Silent_p.C123C|FBXL2_ENST00000542085.1_5'UTR|FBXL2_ENST00000283627.6_3'UTR	NM_012157.3	NP_036289.3			F-box and leucine-rich repeat protein 2											endometrium(2)|kidney(1)|large_intestine(7)|lung(3)|prostate(1)|urinary_tract(1)	15						AGAATTACTGCCATGAGCTTG	0.473																																						ENST00000484457.1																			0				endometrium(2)|kidney(1)|large_intestine(7)|lung(3)|prostate(1)|urinary_tract(1)	15						c.(619-621)tgC>tgT		F-box and leucine-rich repeat protein 2							165	155	158					3																	33415377		2203	4300	6503	SO:0001819	synonymous_variant	25827				interspecies interaction between organisms|proteolysis	cytoplasm|membrane	protein binding|ubiquitin-protein ligase activity	g.chr3:33415377C>T	AF174589	CCDS2658.1, CCDS54560.1	3p22.3	2011-06-09			ENSG00000153558	ENSG00000153558		"F-boxes / Leucine-rich repeats"	13598	protein-coding gene	gene with protein product		605652				10508920, 10531035	Standard	NM_012157		Approved	FBL2, FBL3	uc003cfp.3	Q9UKC9	OTTHUMG00000130745	ENST00000484457.1:c.621C>T	3.37:g.33415377C>T						FBXL2_ENST00000538892.1_Silent_p.C139C|FBXL2_ENST00000538181.1_Silent_p.C123C|FBXL2_ENST00000507198.1_Silent_p.C139C|FBXL2_ENST00000542085.1_5'UTR|FBXL2_ENST00000446237.3_5'UTR|FBXL2_ENST00000283627.6_3'UTR	p.C207C	NM_012157.3	NP_036289.3	Q9UKC9	FBXL2_HUMAN			9	712	+			207						Silent	SNP	ENST00000484457.1	37	c.621C>T	CCDS2658.1																																																																																				0.473	FBXL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253245.2	NM_012157		12	27	0	0	0	1	0	12	27					T	33415377	C	T	33415377	2	4	435	1	0	0	0	0	0	0	0	1	5716	747	26	3		3	FBXL2	3	33415377	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	220651	33415377	164607053	1714	22639											
UBP1	7342	broad.mit.edu	37	chr3	33450268	33450268	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctcatgttcaactgcatcttCaattataggctcaagcctca	11	13	5	12	0	6	0	5	0	1	0	6	0	6	0	1	1	3	3	1	1	5	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:33450268C>T	ENST00000283629.3	-	8	1370	c.841G>A	c.(841-843)Gaa>Aaa	p.E281K	UBP1_ENST00000283628.5_Missense_Mutation_p.E281K|UBP1_ENST00000447368.2_Intron|UBP1_ENST00000486388.1_5'Flank	NM_001128161.1|NM_014517.4	NP_001121633.1|NP_055332.3	Q9NZI7	UBIP1_HUMAN	upstream binding protein 1 (LBP-1a)	281					angiogenesis (GO:0001525)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|viral genome replication (GO:0019079)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			breast(2)|kidney(4)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|urinary_tract(2)	23						ACTGCATCTTCAATTATAGGC	0.438																																						ENST00000283629.3																			0				breast(2)|kidney(4)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|urinary_tract(2)	23						c.(841-843)Gaa>Aaa		upstream binding protein 1 (LBP-1a)							114	110	111					3																	33450268		2203	4300	6503	SO:0001583	missense	7342				negative regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|viral genome replication	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr3:33450268C>T	AF198487	CCDS2659.1, CCDS46788.1	3p22.3	2004-03-02			ENSG00000153560	ENSG00000153560			12507	protein-coding gene	gene with protein product		609784				8114710	Standard	NM_014517		Approved	LBP-1a	uc010hga.3	Q9NZI7	OTTHUMG00000130749	ENST00000283629.3:c.841G>A	3.37:g.33450268C>T	ENSP00000283629:p.Glu281Lys					UBP1_ENST00000283628.5_Missense_Mutation_p.E281K|UBP1_ENST00000447368.2_Intron	p.E281K	NM_001128161.1|NM_014517.4	NP_001121633.1|NP_055332.3	Q9NZI7	UBIP1_HUMAN			8	1370	-			281					Q68CT0|Q86Y57|Q9H8V0|Q9UD76|Q9UD78	Missense_Mutation	SNP	ENST00000283629.3	37	c.841G>A	CCDS2659.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.079081	0.76528	.	.	ENSG00000153560	ENST00000283629;ENST00000283628	T;T	0.17854	2.25;2.25	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	T	0.34716	0.0907	L	0.54323	1.7	0.80722	D	1	D	0.69078	0.997	D	0.73380	0.98	T	0.02705	-1.1121	10	0.06891	T	0.86	-19.3702	18.8331	0.92150	0.0:1.0:0.0:0.0	.	281	Q9NZI7	UBIP1_HUMAN	K	281	ENSP00000283629:E281K;ENSP00000283628:E281K	ENSP00000283628:E281K	E	-	1	0	UBP1	33425272	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.985000	0.76193	2.890000	0.99128	0.585000	0.79938	GAA		0.438	UBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253249.2	NM_014517		31	67	0	0	0	1	0	31	67					T	33450268	C	T	33450268	3	4	435	1	0	0	0	0	1	0	0	0	16892	835	29	3	817	3	UBP1	3	33450268	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	34891	33450268	164572162	1715	22640											
PDCD6IP	10015	broad.mit.edu	37	chr3	33877564	33877564	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaactgattaaaacagtggCatctcgctatgatgaatatg	15	11	9	6	1	1	4	0	3	1	1	2	4	1	4	0	1	2	2	0	1	6	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:33877564C>G	ENST00000307296.3	+	8	1240	c.863C>G	c.(862-864)gCa>gGa	p.A288G	PDCD6IP_ENST00000457054.2_Missense_Mutation_p.A293G			Q8WUM4	PDC6I_HUMAN	programmed cell death 6 interacting protein	288	BRO1. {ECO:0000255|PROSITE- ProRule:PRU00526}.|Interaction with CHMP4A, CHMP4B and CHMP4C.|Interaction with EIAV p9.				apoptotic process (GO:0006915)|cell cycle (GO:0007049)|cell division (GO:0051301)|protein transport (GO:0015031)|viral life cycle (GO:0019058)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|immunological synapse (GO:0001772)|membrane (GO:0016020)|vesicle (GO:0031982)	calcium-dependent protein binding (GO:0048306)|protein homodimerization activity (GO:0042803)			central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|skin(1)|stomach(1)	23						AAAACAGTGGCATCTCGCTAT	0.353																																						ENST00000307296.3																			0				central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|skin(1)|stomach(1)	23						c.(862-864)gCa>gGa		programmed cell death 6 interacting protein							108	111	110					3																	33877564		2203	4300	6503	SO:0001583	missense	10015				apoptosis|cell cycle|cell division|interspecies interaction between organisms|protein transport	cytosol|melanosome|microtubule organizing center	calcium-dependent protein binding	g.chr3:33877564C>G	BC020066	CCDS2660.1, CCDS54561.1	3p22.3	2012-08-30	2001-11-29		ENSG00000170248	ENSG00000170248			8766	protein-coding gene	gene with protein product	"ALG-2 interacting protein X"	608074	"programmed cell death 6-interacting protein"			9880530	Standard	NM_001162429		Approved	Alix, AIP1, Hp95	uc003cfy.4	Q8WUM4	OTTHUMG00000130751	ENST00000307296.3:c.863C>G	3.37:g.33877564C>G	ENSP00000307387:p.Ala288Gly					PDCD6IP_ENST00000457054.2_Missense_Mutation_p.A293G	p.A288G			Q8WUM4	PDC6I_HUMAN			8	1240	+			288			BRO1.|Interaction with CHMP4A, CHMP4B and CHMP4C.|Interaction with EIAV p9.		C5MQH7|E9PFU1|Q6NUS1|Q9BX86|Q9NUN0|Q9P2H2|Q9UKL5	Missense_Mutation	SNP	ENST00000307296.3	37	c.863C>G	CCDS2660.1	.	.	.	.	.	.	.	.	.	.	C	17.94	3.511916	0.64522	.	.	ENSG00000170248	ENST00000307296;ENST00000457054	T;T	0.18016	2.24;2.24	5.18	5.18	0.71444	BRO1 domain (3);	0.105694	0.64402	D	0.000005	T	0.19087	0.0458	L	0.46157	1.445	0.80722	D	1	B;B;B	0.14805	0.011;0.007;0.004	B;B;B	0.18263	0.021;0.021;0.021	T	0.03933	-1.0991	10	0.23891	T	0.37	-11.6563	18.691	0.91582	0.0:1.0:0.0:0.0	.	69;293;288	B7Z5C1;E9PFU1;Q8WUM4	.;.;PDC6I_HUMAN	G	288;293	ENSP00000307387:A288G;ENSP00000411825:A293G	ENSP00000307387:A288G	A	+	2	0	PDCD6IP	33852568	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.076000	0.71267	2.407000	0.81776	0.650000	0.86243	GCA		0.353	PDCD6IP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253251.2			24	41	0	0	0	1	0	24	41					G	33877564	C	G	33877564	3	3	435	1	0	0	0	0	1	0	0	0	11624	710	25	5	908	5	PDCD6IP	3	33877564	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	427296	33877564	164144866	1716	22641											
ARPP21	10777	broad.mit.edu	37	chr3	35770907	35770907	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctggctctccaggctgtgtGccttatccagagaatggaat	8	11	12	10	0	1	1	0	0	1	1	3	3	2	2	3	3	1	3	3	3	3	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:35770907G>C	ENST00000187397.4	+	15	1794	c.1338G>C	c.(1336-1338)gtG>gtC	p.V446V	ARPP21_ENST00000337271.5_Silent_p.V392V|ARPP21_ENST00000458225.1_Silent_p.V412V|ARPP21_ENST00000444190.1_Silent_p.V392V|ARPP21_ENST00000417925.1_Silent_p.V412V	NM_016300.4	NP_057384.2	Q9UBL0	ARP21_HUMAN	cAMP-regulated phosphoprotein, 21kDa	446					cellular response to heat (GO:0034605)	cytoplasm (GO:0005737)	nucleic acid binding (GO:0003676)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	61						CAGGCTGTGTGCCTTATCCAG	0.607																																						ENST00000187397.4																			0				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	61						c.(1336-1338)gtG>gtC		cAMP-regulated phosphoprotein, 21kDa							62	59	60					3																	35770907		2203	4300	6503	SO:0001819	synonymous_variant	10777					cytoplasm	nucleic acid binding	g.chr3:35770907G>C	AA733082	CCDS2661.1, CCDS43063.1, CCDS58823.1, CCDS58824.1	3p24.3	2010-08-12			ENSG00000172995	ENSG00000172995			16968	protein-coding gene	gene with protein product	"R3H domain containing 3"	605488				8120638	Standard	NM_198399		Approved	ARPP-21, TARPP, R3HDM3	uc011axy.2	Q9UBL0	OTTHUMG00000130795	ENST00000187397.4:c.1338G>C	3.37:g.35770907G>C						ARPP21_ENST00000444190.1_Silent_p.V392V|ARPP21_ENST00000337271.5_Silent_p.V392V|ARPP21_ENST00000417925.1_Silent_p.V412V|ARPP21_ENST00000458225.1_Silent_p.V412V	p.V446V	NM_016300.4	NP_057384.2	Q9UBL0	ARP21_HUMAN			15	1794	+			446					B4DG96|Q49AK3|Q49AS6|Q4G0V4|Q6NYC3|Q86V31|Q9UF93	Silent	SNP	ENST00000187397.4	37	c.1338G>C	CCDS2661.1	.	.	.	.	.	.	.	.	.	.	G	8.237	0.805892	0.16467	.	.	ENSG00000172995	ENST00000425289	.	.	.	6.06	3.27	0.37495	.	.	.	.	.	T	0.38957	0.1060	.	.	.	0.28036	N	0.933958	.	.	.	.	.	.	T	0.23190	-1.0195	4	.	.	.	-3.4075	10.3239	0.43781	0.0626:0.0:0.6941:0.2433	.	.	.	.	P	219	.	.	A	+	1	0	ARPP21	35745911	0.729000	0.28090	0.931000	0.37212	0.976000	0.68499	0.383000	0.20651	0.418000	0.25898	-0.188000	0.12872	GCC		0.607	ARPP21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253334.2	NM_198399		9	24	0	0	0	1	0	9	24					C	35770907	G	C	35770907	2	2	435	1	0	0	0	0	0	0	0	1	978	1306	46	5		5	ARPP21	3	35770907	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	1893343	35770907	162251523	1717	22642											
ARPP21	10777	broad.mit.edu	37	chr3	35778841	35778841	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagccacagatggcaggccCtctggtcactcaggtagggg	8	6	15	12	0	3	1	2	0	1	1	3	1	3	1	2	6	1	3	2	6	1	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:35778841C>A	ENST00000187397.4	+	16	2087	c.1631C>A	c.(1630-1632)cCt>cAt	p.P544H	ARPP21_ENST00000337271.5_Missense_Mutation_p.P490H|ARPP21_ENST00000458225.1_Missense_Mutation_p.P510H|ARPP21_ENST00000444190.1_Missense_Mutation_p.P490H|ARPP21_ENST00000417925.1_Missense_Mutation_p.P510H	NM_016300.4	NP_057384.2	Q9UBL0	ARP21_HUMAN	cAMP-regulated phosphoprotein, 21kDa	544	Gln-rich.				cellular response to heat (GO:0034605)	cytoplasm (GO:0005737)	nucleic acid binding (GO:0003676)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	61						ATGGCAGGCCCTCTGGTCACT	0.627																																						ENST00000187397.4																			0				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	61						c.(1630-1632)cCt>cAt		cAMP-regulated phosphoprotein, 21kDa							25	26	26					3																	35778841		2200	4295	6495	SO:0001583	missense	10777					cytoplasm	nucleic acid binding	g.chr3:35778841C>A	AA733082	CCDS2661.1, CCDS43063.1, CCDS58823.1, CCDS58824.1	3p24.3	2010-08-12			ENSG00000172995	ENSG00000172995			16968	protein-coding gene	gene with protein product	"R3H domain containing 3"	605488				8120638	Standard	NM_198399		Approved	ARPP-21, TARPP, R3HDM3	uc011axy.2	Q9UBL0	OTTHUMG00000130795	ENST00000187397.4:c.1631C>A	3.37:g.35778841C>A	ENSP00000187397:p.Pro544His					ARPP21_ENST00000444190.1_Missense_Mutation_p.P490H|ARPP21_ENST00000337271.5_Missense_Mutation_p.P490H|ARPP21_ENST00000417925.1_Missense_Mutation_p.P510H|ARPP21_ENST00000458225.1_Missense_Mutation_p.P510H	p.P544H	NM_016300.4	NP_057384.2	Q9UBL0	ARP21_HUMAN			16	2087	+			544			Gln-rich.		B4DG96|Q49AK3|Q49AS6|Q4G0V4|Q6NYC3|Q86V31|Q9UF93	Missense_Mutation	SNP	ENST00000187397.4	37	c.1631C>A	CCDS2661.1	.	.	.	.	.	.	.	.	.	.	C	4.735	0.136646	0.09032	.	.	ENSG00000172995	ENST00000458225;ENST00000337271;ENST00000444190;ENST00000187397;ENST00000417925	T;T;T;T;T	0.41758	1.06;1.06;1.06;0.99;1.06	5.91	3.94	0.45596	.	0.604578	0.16552	N	0.209438	T	0.15998	0.0385	N	0.01482	-0.84	0.09310	N	1	B;B;B;B	0.06786	0.001;0.0;0.0;0.001	B;B;B;B	0.06405	0.002;0.0;0.001;0.002	T	0.14952	-1.0454	10	0.10902	T	0.67	-0.0703	11.5765	0.50864	0.5067:0.4933:0.0:0.0	.	510;32;544;490	Q9UBL0-3;Q9UBL0-5;Q9UBL0;Q9UBL0-4	.;.;ARP21_HUMAN;.	H	510;490;490;544;510	ENSP00000414351:P510H;ENSP00000337792:P490H;ENSP00000405276:P490H;ENSP00000187397:P544H;ENSP00000412326:P510H	ENSP00000187397:P544H	P	+	2	0	ARPP21	35753845	0.273000	0.24181	0.024000	0.17045	0.968000	0.65278	4.430000	0.59907	1.475000	0.48197	0.655000	0.94253	CCT		0.627	ARPP21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253334.2	NM_198399		6	10	1	0	0.0215528	1	0.0217053	6	10					A	35778841	C	A	35778841	3	1	435	1	0	0	0	0	1	0	0	0	978	681	24	5	1698	5	ARPP21	3	35778841	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	7934	35778841	162243589	1718	22643											
STAC	6769	broad.mit.edu	37	chr3	36485034	36485034	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aagcctgacgtccacacccgCcagggctggtctgcatccag	8	6	11	16	2	1	1	0	1	1	0	3	1	3	1	5	2	2	2	5	2	1	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:36485034C>T	ENST00000273183.3	+	2	590	c.290C>T	c.(289-291)gCc>gTc	p.A97V	STAC_ENST00000457375.2_Missense_Mutation_p.A97V|STAC_ENST00000476388.1_3'UTR	NM_003149.1	NP_003140.1	Q99469	STAC_HUMAN	SH3 and cysteine rich domain	97					cellular response to heat (GO:0034605)|intracellular signal transduction (GO:0035556)|signal transduction (GO:0007165)	cytosol (GO:0005829)	metal ion binding (GO:0046872)			endometrium(5)|large_intestine(9)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(5)	32						TCCACACCCGCCAGGGCTGGT	0.557																																						ENST00000273183.3																			0				endometrium(5)|large_intestine(9)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(5)	32						c.(289-291)gCc>gTc		SH3 and cysteine rich domain							107	99	102					3																	36485034		2203	4300	6503	SO:0001583	missense	6769				intracellular signal transduction	cytoplasm|soluble fraction	metal ion binding	g.chr3:36485034C>T	D86640	CCDS2662.1	3p22.3	2007-06-08			ENSG00000144681	ENSG00000144681			11353	protein-coding gene	gene with protein product		602317	"src homology three (SH3) and cysteine rich domain"			8954993, 10393425	Standard	XM_006713308		Approved	STAC1	uc003cgh.1	Q99469	OTTHUMG00000130798	ENST00000273183.3:c.290C>T	3.37:g.36485034C>T	ENSP00000273183:p.Ala97Val					STAC_ENST00000476388.1_3'UTR|STAC_ENST00000457375.2_Missense_Mutation_p.A97V	p.A97V	NM_003149.1	NP_003140.1	Q99469	STAC_HUMAN			2	590	+			97					B2R8S8	Missense_Mutation	SNP	ENST00000273183.3	37	c.290C>T	CCDS2662.1	.	.	.	.	.	.	.	.	.	.	C	14.52	2.558995	0.45590	.	.	ENSG00000144681	ENST00000273183;ENST00000457375;ENST00000544687;ENST00000434649	T;T;T	0.75367	-0.93;1.02;0.9	4.89	4.89	0.63831	.	0.150419	0.46145	D	0.000308	T	0.56949	0.2020	N	0.08118	0	0.40880	D	0.983984	B;B	0.13594	0.008;0.0	B;B	0.12156	0.007;0.001	T	0.53208	-0.8471	10	0.22109	T	0.4	.	18.0307	0.89283	0.0:1.0:0.0:0.0	.	97;97	E9PEA7;Q99469	.;STAC_HUMAN	V	97;97;29;86	ENSP00000273183:A97V;ENSP00000393713:A97V;ENSP00000398403:A86V	ENSP00000273183:A97V	A	+	2	0	STAC	36460038	0.994000	0.37717	1.000000	0.80357	0.558000	0.35554	2.841000	0.48223	2.417000	0.82017	0.557000	0.71058	GCC		0.557	STAC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253338.2	NM_003149		39	46	0	0	0	1	0	39	46					T	36485034	C	T	36485034	3	4	435	1	0	0	0	0	1	0	0	0	15238	739	26	3	296	3	STAC	3	36485034	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	706193	36485034	161537396	1719	22644											
TRANK1	9881	broad.mit.edu	37	chr3	36898725	36898725	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gatctcccaggtcatgttatCgaagtcctggaggcaggcct	8	10	12	11	1	2	0	1	0	1	0	5	3	3	1	3	4	0	2	3	4	2	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:36898725C>T	ENST00000429976.2	-	12	2603	c.2356G>A	c.(2356-2358)Gat>Aat	p.D786N	TRANK1_ENST00000428977.2_Missense_Mutation_p.D236N|TRANK1_ENST00000301807.6_Missense_Mutation_p.D236N	NM_014831.2	NP_055646.2	O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	786							ATP binding (GO:0005524)|hydrolase activity (GO:0016787)			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						GTCATGTTATCGAAGTCCTGG	0.498																																						ENST00000301807.6																			0				NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						c.(706-708)Gat>Aat		tetratricopeptide repeat and ankyrin repeat containing 1							236	228	231					3																	36898725		2030	4199	6229	SO:0001583	missense	9881				DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding	g.chr3:36898725C>T	AK096678	CCDS46789.1, CCDS46789.2	3p22.2	2013-01-11			ENSG00000168016	ENSG00000168016		"Ankyrin repeat domain containing", "Tetratricopeptide (TTC) repeat domain containing"	29011	protein-coding gene	gene with protein product	"lupus brain antigen 1", "KIAA0342"					9205841	Standard	NM_014831		Approved	LBA1, KIAA0342	uc003cgj.3	O15050	OTTHUMG00000155848	ENST00000429976.2:c.2356G>A	3.37:g.36898725C>T	ENSP00000416168:p.Asp786Asn					TRANK1_ENST00000428977.2_Missense_Mutation_p.D236N|TRANK1_ENST00000429976.2_Missense_Mutation_p.D786N	p.D236N	NM_014831.2	NP_055646.2	O15050	TRNK1_HUMAN			12	2603	-			786					Q8N8K0	Missense_Mutation	SNP	ENST00000429976.2	37	c.706G>A	CCDS46789.2	.	.	.	.	.	.	.	.	.	.	C	16.05	3.013084	0.54468	.	.	ENSG00000168016	ENST00000428977;ENST00000429976;ENST00000301807	T;T;T	0.35421	1.31;1.68;1.31	5.64	5.64	0.86602	.	0.272984	0.25804	N	0.028196	T	0.27933	0.0688	L	0.27053	0.805	0.37679	D	0.923401	P	0.35793	0.521	B	0.25405	0.06	T	0.20672	-1.0268	10	0.56958	D	0.05	.	20.0957	0.97842	0.0:1.0:0.0:0.0	.	786	O15050	TRNK1_HUMAN	N	236;786;236	ENSP00000416826:D236N;ENSP00000416168:D786N;ENSP00000301807:D236N	ENSP00000301807:D236N	D	-	1	0	TRANK1	36873729	0.999000	0.42202	0.951000	0.38953	0.890000	0.51754	4.337000	0.59310	2.837000	0.97791	0.655000	0.94253	GAT		0.498	TRANK1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_014831		93	129	0	0	0	1	0	93	129					T	36898725	C	T	36898725	3	4	435	1	0	0	0	0	1	0	0	0	16451	884	31	2	6469	2	TRANK1	3	36898725	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	413691	36898725	161123705	1720	22645											
EPM2AIP1	9852	broad.mit.edu	37	chr3	37033940	37033940	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gatgagtcaggttgattatgGtcagaagatcttcttgcacc	10	13	11	7	0	4	4	2	2	2	2	4	5	4	4	1	2	1	2	1	2	2	4	rs527974047		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:37033940G>A	ENST00000322716.5	-	1	855	c.629C>T	c.(628-630)aCc>aTc	p.T210I	MLH1_ENST00000455445.2_5'Flank|MLH1_ENST00000536378.1_5'Flank|MLH1_ENST00000539477.1_5'Flank|MLH1_ENST00000435176.1_5'Flank|MLH1_ENST00000458205.2_5'Flank|MLH1_ENST00000231790.2_5'Flank	NM_014805.3	NP_055620.1	Q7L775	EPMIP_HUMAN	EPM2A (laforin) interacting protein 1	210					positive regulation of glycogen (starch) synthase activity (GO:2000467)|positive regulation of glycogen biosynthetic process (GO:0045725)|response to insulin (GO:0032868)	endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)				breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|liver(1)|lung(12)|ovary(2)	27						GTTGATTATGGTCAGAAGATC	0.517																																						ENST00000322716.5																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|liver(1)|lung(12)|ovary(2)	27						c.(628-630)aCc>aTc		EPM2A (laforin) interacting protein 1							80	82	81					3																	37033940		2012	4182	6194	SO:0001583	missense	9852					endoplasmic reticulum		g.chr3:37033940G>A	AB018309	CCDS46790.1	3p22.1	2003-03-26							19735	protein-coding gene	gene with protein product		607911					Standard	NM_014805		Approved	KIAA0766, FLJ11207	uc003cgk.3	Q7L775		ENST00000322716.5:c.629C>T	3.37:g.37033940G>A	ENSP00000406027:p.Thr210Ile						p.T210I	NM_014805.3	NP_055620.1	Q7L775	EPMIP_HUMAN			1	855	-			210					O94866|Q9H3L3	Missense_Mutation	SNP	ENST00000322716.5	37	c.629C>T	CCDS46790.1	.	.	.	.	.	.	.	.	.	.	G	15.47	2.843960	0.51164	.	.	ENSG00000178567	ENST00000322716	T	0.14640	2.49	5.36	5.36	0.76844	.	.	.	.	.	T	0.18800	0.0451	N	0.14661	0.345	0.27765	N	0.943684	D	0.76494	0.999	D	0.74023	0.982	T	0.13575	-1.0504	9	0.22706	T	0.39	-9.3517	11.5057	0.50466	0.0:0.0:0.8213:0.1786	.	210	Q7L775	EPMIP_HUMAN	I	210	ENSP00000406027:T210I	ENSP00000406027:T210I	T	-	2	0	EPM2AIP1	37008944	1.000000	0.71417	1.000000	0.80357	0.655000	0.38815	2.980000	0.49321	2.788000	0.95919	0.557000	0.71058	ACC		0.517	EPM2AIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000470593.1	NM_014805		27	33	0	0	0	1	0	27	33					A	37033940	G	A	37033940	3	1	435	1	0	0	0	0	1	0	0	0	5184	1261	44	3	1198	3	EPM2AIP1	3	37033940	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	135215	37033940	160988490	1721	22646											
MLH1	4292	broad.mit.edu	37	chr3	37090489	37090489	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcagtacatatctgaggagtCgaccctctcaggccagcagg	10	7	12	12	1	2	1	1	1	2	0	4	3	2	2	2	3	2	3	2	3	2	2	rs63749995		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:37090489C>T	ENST00000231790.2	+	18	2300	c.2084C>T	c.(2083-2085)tCg>tTg	p.S695L	MLH1_ENST00000435176.1_Missense_Mutation_p.S597L|MLH1_ENST00000536378.1_Missense_Mutation_p.S454L|MLH1_ENST00000458205.2_Missense_Mutation_p.S454L|MLH1_ENST00000455445.2_Missense_Mutation_p.S454L|MLH1_ENST00000539477.1_Missense_Mutation_p.S454L	NM_000249.3|NM_001258273.1	NP_000240.1|NP_001245202.1	P40692	MLH1_HUMAN	mutL homolog 1	695					ATP catabolic process (GO:0006200)|double-strand break repair via nonhomologous end joining (GO:0006303)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|isotype switching (GO:0045190)|male meiosis chromosome segregation (GO:0007060)|meiotic metaphase I plate congression (GO:0043060)|mismatch repair (GO:0006298)|negative regulation of mitotic recombination (GO:0045950)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|oogenesis (GO:0048477)|resolution of meiotic recombination intermediates (GO:0000712)|somatic hypermutation of immunoglobulin genes (GO:0016446)|spermatogenesis (GO:0007283)|spindle midzone assembly involved in meiosis (GO:0051257)|synapsis (GO:0007129)	chiasma (GO:0005712)|male germ cell nucleus (GO:0001673)|membrane (GO:0016020)|MutLalpha complex (GO:0032389)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|guanine/thymine mispair binding (GO:0032137)	p.0?(1)		NS(1)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(54)|lung(13)|oesophagus(7)|ovary(6)|pancreas(5)|prostate(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	127						TCTGAGGAGTCGACCCTCTCA	0.488		1	"D, Mis, N, F, S"		"colorectal, endometrial, ovarian, CNS"	"colorectal, endometrial, ovarian, CNS"		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome																													ENST00000231790.2		1	yes	Rec	yes	"Hereditary non-polyposis colorectal cancer, Turcot syndrome"	3	3p21.3	4292	"D, Mis, N, F, S"	E.coli MutL homolog gene			"E, O"		"colorectal, endometrial, ovarian, CNS"	"colorectal, endometrial, ovarian, CNS"		1	Whole gene deletion(1)	p.0?(1)	ovary(1)	NS(1)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(54)|lung(13)|oesophagus(7)|ovary(6)|pancreas(5)|prostate(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	127						c.(2083-2085)tCg>tTg	Mismatch excision repair (MMR)	mutL homolog 1							82	87	86					3																	37090489		2203	4300	6503	SO:0001583	missense	4292	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome; ;Hereditary Non-Polyposis Colorectal Cancer, HNPCC, Lynch syndromes 1 and 2 (= Cancer Family Syndrome), Hereditary Mismatch Repair Deficiency syndrome, HMRDS;Mismatch Repair Cancer syndrome, MMRCS, Childhood Cancer Syndrome, CCS, Biallelic Mismatch Repair Gene Mutations Associated Early Onset Cancer, Lynch syndrome type III	mismatch repair|somatic hypermutation of immunoglobulin genes	chiasma|MutLalpha complex|MutLbeta complex|synaptonemal complex	ATP binding|ATPase activity|protein binding	g.chr3:37090489C>T	U07418	CCDS2663.1, CCDS54562.1, CCDS54563.1	3p22.3	2014-09-17	2013-09-12		ENSG00000076242	ENSG00000076242			7127	protein-coding gene	gene with protein product		120436	"mutL (E. coli) homolog 1 (colon cancer, nonpolyposis type 2)", "mutL homolog 1, colon cancer, nonpolyposis type 2 (E. coli)"	COCA2		7903889	Standard	NM_000249		Approved	HNPCC, FCC2, HNPCC2	uc003cgl.3	P40692	OTTHUMG00000130797	ENST00000231790.2:c.2084C>T	3.37:g.37090489C>T	ENSP00000231790:p.Ser695Leu					MLH1_ENST00000435176.1_Missense_Mutation_p.S597L|MLH1_ENST00000536378.1_Missense_Mutation_p.454_454insL|MLH1_ENST00000455445.2_Missense_Mutation_p.S454L|MLH1_ENST00000539477.1_Missense_Mutation_p.S454L|MLH1_ENST00000458205.2_Missense_Mutation_p.S454L	p.S695L	NM_000249.3|NM_001258273.1	NP_000240.1|NP_001245202.1	P40692	MLH1_HUMAN			18	2300	+			695					B4DI13|B4DQ11|E9PCU2	Missense_Mutation	SNP	ENST00000231790.2	37	c.2084C>T	CCDS2663.1	.	.	.	.	.	.	.	.	.	.	C	15.71	2.914375	0.52546	.	.	ENSG00000076242	ENST00000231790;ENST00000458205;ENST00000539477;ENST00000455445;ENST00000435176;ENST00000536378	D;D;D;D;D;D	0.89617	-2.54;-2.54;-2.54;-2.54;-2.54;-2.54	5.46	5.46	0.80206	.	0.438573	0.24502	N	0.037975	T	0.81688	0.4875	L	0.38175	1.15	0.43211	D	0.995074	P;P;P;B	0.47762	0.787;0.666;0.9;0.23	B;B;B;B	0.26202	0.043;0.046;0.067;0.004	D	0.83545	0.0098	10	0.41790	T	0.15	-5.1982	19.7572	0.96298	0.0:1.0:0.0:0.0	.	597;695;454;695	E9PCU2;B2R6K0;B4DI13;P40692	.;.;.;MLH1_HUMAN	L	695;454;454;454;597;454	ENSP00000231790:S695L;ENSP00000402667:S454L;ENSP00000443665:S454L;ENSP00000398272:S454L;ENSP00000402564:S597L;ENSP00000444286:S454L	ENSP00000231790:S695L	S	+	2	0	MLH1	37065493	0.995000	0.38212	0.983000	0.44433	0.978000	0.69477	3.880000	0.56145	2.741000	0.93983	0.650000	0.86243	TCG		0.488	MLH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253337.2	NM_000249		10	16	0	0	0	1	0	10	16					T	37090489	C	T	37090489	3	4	435	1	0	0	0	0	1	0	0	0	9617	893	31	2	2154	2	MLH1	3	37090489	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	56549	37090489	160931941	1722	22647											
GOLGA4	2803	broad.mit.edu	37	chr3	37367742	37367742	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcacagtcaagatttacacaGcatcaaaacactgttaaaga	18	8	6	9	0	2	2	2	0	0	2	2	2	2	2	0	0	3	3	0	0	6	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:37367742G>T	ENST00000361924.2	+	14	4739	c.4365G>T	c.(4363-4365)caG>caT	p.Q1455H	GOLGA4_ENST00000356847.4_Missense_Mutation_p.Q1477H|GOLGA4_ENST00000444882.1_Intron	NM_002078.4	NP_002069.2	Q13439	GOGA4_HUMAN	golgin A4	1455	Glu-rich.				Golgi to plasma membrane protein transport (GO:0043001)|protein targeting to Golgi (GO:0000042)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	GTPase binding (GO:0051020)			NS(2)|breast(3)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(17)|liver(2)|lung(16)|ovary(4)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						GATTTACACAGCATCAAAACA	0.363																																						ENST00000361924.2																			0				NS(2)|breast(3)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(17)|liver(2)|lung(16)|ovary(4)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						c.(4363-4365)caG>caT		golgin A4							78	84	82					3																	37367742		2203	4300	6503	SO:0001583	missense	2803				Golgi to plasma membrane protein transport	Golgi membrane|trans-Golgi network	protein binding	g.chr3:37367742G>T	U31906	CCDS2666.1, CCDS54564.1	3p22-p21.3	2010-02-12	2010-02-12		ENSG00000144674	ENSG00000144674			4427	protein-coding gene	gene with protein product	"golgin 245"	602509	"golgi autoantigen, golgin subfamily a, 4"			8626529	Standard	NM_002078		Approved	GOLG, GCP2, p230, golgin-240	uc003cgw.3	Q13439	OTTHUMG00000130799	ENST00000361924.2:c.4365G>T	3.37:g.37367742G>T	ENSP00000354486:p.Gln1455His					GOLGA4_ENST00000444882.1_Intron|GOLGA4_ENST00000356847.4_Missense_Mutation_p.Q1477H	p.Q1455H	NM_002078.4	NP_002069.2	Q13439	GOGA4_HUMAN			14	4739	+			1455			Glu-rich.		F8W8Q7|Q13270|Q13654|Q14436|Q59EW8	Missense_Mutation	SNP	ENST00000361924.2	37	c.4365G>T	CCDS2666.1	.	.	.	.	.	.	.	.	.	.	G	13.74	2.328554	0.41197	.	.	ENSG00000144674	ENST00000361924;ENST00000356847;ENST00000437131	T;T;T	0.56444	0.49;0.46;0.51	5.24	0.445	0.16597	.	0.000000	0.34435	N	0.003963	T	0.68201	0.2975	M	0.77103	2.36	0.33954	D	0.644764	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.999;0.996	T	0.73956	-0.3819	10	0.59425	D	0.04	.	10.3339	0.43839	0.426:0.0:0.5739:0.0	.	1455;1455;1477;1455	Q13439-3;Q13439-4;F8W8Q7;Q13439	.;.;.;GOGA4_HUMAN	H	1455;1477;1326	ENSP00000354486:Q1455H;ENSP00000349305:Q1477H;ENSP00000405842:Q1326H	ENSP00000349305:Q1477H	Q	+	3	2	GOLGA4	37342746	1.000000	0.71417	0.159000	0.22649	0.889000	0.51656	0.838000	0.27572	-0.215000	0.10063	-0.262000	0.10625	CAG		0.363	GOLGA4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253339.2	NM_002078		20	46	1	0	3.51602e-12	1	3.7986e-12	20	46					T	37367742	G	T	37367742	3	4	435	1	0	0	0	0	1	0	0	0	6555	962	34	5	4489	5	GOLGA4	3	37367742	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	277253	37367742	160654688	1723	22648											
ITGA9	3680	broad.mit.edu	37	chr3	37860417	37860417	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cgaaggtacaaagaaattatCgaagctgagaagaaccggaa	19	5	11	6	3	0	3	0	1	0	3	1	7	0	4	1	2	3	2	1	2	9	2	rs142961075		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:37860417C>T	ENST00000264741.5	+	28	3301	c.3045C>T	c.(3043-3045)atC>atT	p.I1015I	AC093415.2_ENST00000450990.1_RNA|AC093415.2_ENST00000366441.2_RNA|AC093415.2_ENST00000594579.1_RNA|AC093415.2_ENST00000608505.1_RNA|AC093415.2_ENST00000420870.1_RNA|AC093415.2_ENST00000429532.1_RNA|AC093415.2_ENST00000445429.1_RNA|AC093415.2_ENST00000457661.1_RNA|AC093415.2_ENST00000438136.1_RNA|AC093415.2_ENST00000430620.1_RNA	NM_002207.2	NP_002198.2	Q13797	ITA9_HUMAN	integrin, alpha 9	1015					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|neutrophil chemotaxis (GO:0030593)|wound healing (GO:0042060)	basal plasma membrane (GO:0009925)|integrin alpha9-beta1 complex (GO:0034679)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(17)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|urinary_tract(1)	44				KIRC - Kidney renal clear cell carcinoma(284;0.165)|Kidney(284;0.197)		AAGAAATTATCGAAGCTGAGA	0.473													C|||	1	0.000199681	0	0.0014	5008	,	,		18335	0		0	False		,,,				2504	0					ENST00000264741.5																			0				breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(17)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|urinary_tract(1)	44						c.(3043-3045)atC>atT		integrin, alpha 9		C		2,4404	4.2+/-10.8	0,2,2201	67	68	68		3045	-8.5	0.7	3	dbSNP_134	68	14,8586	10.5+/-38.8	0,14,4286	no	coding-synonymous	ITGA9	NM_002207.2		0,16,6487	TT,TC,CC		0.1628,0.0454,0.123		1015/1036	37860417	16,12990	2203	4300	6503	SO:0001819	synonymous_variant	3680				axon guidance|cell adhesion|integrin-mediated signaling pathway	integrin complex	receptor activity	g.chr3:37860417C>T	L24158	CCDS2669.1	3p21.3	2010-03-23			ENSG00000144668	ENSG00000144668		"Integrins"	6145	protein-coding gene	gene with protein product	"integrin, alpha 4-like"	603963				8245132, 8290272	Standard	NM_002207		Approved	RLC, ITGA4L, ALPHA-RLC	uc003chd.3	Q13797	OTTHUMG00000130815	ENST00000264741.5:c.3045C>T	3.37:g.37860417C>T						AC093415.2_ENST00000430620.1_RNA|AC093415.2_ENST00000429532.1_RNA|AC093415.2_ENST00000450990.1_RNA|AC093415.2_ENST00000457661.1_RNA|AC093415.2_ENST00000420870.1_RNA|AC093415.2_ENST00000445429.1_RNA|AC093415.2_ENST00000366441.2_RNA|AC093415.2_ENST00000438136.1_RNA	p.I1015I	NM_002207.2	NP_002198.2	Q13797	ITA9_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.165)|Kidney(284;0.197)	28	3301	+			1015					Q14638	Silent	SNP	ENST00000264741.5	37	c.3045C>T	CCDS2669.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	8.284	0.816181	0.16607	4.54E-4	0.001628	ENSG00000144668	ENST00000411817	.	.	.	6.17	-8.54	0.00912	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	21.0516	0.99944	0.0:0.7126:0.0:0.2874	.	.	.	.	X	49	.	.	R	+	1	2	ITGA9	37835421	0.027000	0.19231	0.654000	0.29608	0.922000	0.55478	-0.950000	0.03889	-1.656000	0.01495	-0.794000	0.03295	CGA		0.473	ITGA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253361.1	NM_002207		14	24	0	0	0	1	0	14	24					T	37860417	C	T	37860417	2	4	435	1	0	0	0	0	0	0	0	1	7883	874	31	2		2	ITGA9	3	37860417	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	492675	37860417	160162013	1724	22649											
CTDSPL	10217	broad.mit.edu	37	chr3	38012927	38012927	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgaagcggccacatgtggaCgagttcctccagaggatggg	9	7	15	10	2	0	2	0	1	0	1	2	5	2	4	3	4	1	1	3	4	1	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:38012927C>T	ENST00000273179.5	+	6	482	c.456C>T	c.(454-456)gaC>gaT	p.D152D	CTDSPL_ENST00000310189.3_3'UTR|CTDSPL_ENST00000443503.2_Silent_p.D141D|MIR26A1_ENST00000362205.1_RNA	NM_001008392.1	NP_001008393.1	O15194	CTDSL_HUMAN	CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) small phosphatase-like	152	FCP1 homology. {ECO:0000255|PROSITE- ProRule:PRU00336}.					extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|phosphoprotein phosphatase activity (GO:0004721)			breast(1)|endometrium(2)|large_intestine(4)|skin(1)	8		Melanoma(1037;0.0122)		KIRC - Kidney renal clear cell carcinoma(284;0.0729)|Kidney(284;0.0902)		CACATGTGGACGAGTTCCTCC	0.597																																						ENST00000443503.2																			0				breast(1)|endometrium(2)|large_intestine(4)|skin(1)	8						c.(421-423)gaC>gaT		CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) small phosphatase-like							138	104	115					3																	38012927		2203	4300	6503	SO:0001819	synonymous_variant	10217					nucleus	metal ion binding|phosphoprotein phosphatase activity	g.chr3:38012927C>T	D88153	CCDS33734.1, CCDS33735.1	3p21.3	2010-06-21	2003-10-27	2003-10-29	ENSG00000144677	ENSG00000144677	3.1.3.16	"Serine/threonine phosphatases / CTD aspartate-based phosphatases"	16890	protein-coding gene	gene with protein product	"small CTD phosphatase 3", "HYA22 protein", "RB protein serine phosphatase from chromosome 3"	608592	"chromosome 3 open reading frame 8"	C3orf8		9179494, 12543795	Standard	NM_005808		Approved	HYA22, SCP3, PSR1, RBSP3	uc003chg.3	O15194	OTTHUMG00000155942	ENST00000273179.5:c.456C>T	3.37:g.38012927C>T						CTDSPL_ENST00000310189.3_3'UTR|CTDSPL_ENST00000273179.5_Silent_p.D152D	p.D141D	NM_005808.2	NP_005799.2	O15194	CTDSL_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0729)|Kidney(284;0.0902)	5	663	+		Melanoma(1037;0.0122)	152			FCP1 homology.		Q3ZTU0|Q70KI4|Q7Z5Q2	Silent	SNP	ENST00000273179.5	37	c.423C>T	CCDS33734.1																																																																																				0.597	CTDSPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342392.1	NM_005808		16	14	0	0	0	1	0	16	14					T	38012927	C	T	38012927	2	4	435	1	0	0	0	0	0	0	0	1	4005	535	19	1		1	CTDSPL	3	38012927	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	152510	38012927	160009503	1725	22650											
CTDSPL	10217	broad.mit.edu	37	chr3	38022319	38022319	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagggcctgagccgggaggaCgacgtgtacagcatgctgca	9	5	17	10	3	0	1	0	1	0	0	0	5	0	3	2	3	5	4	2	3	1	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:38022319C>T	ENST00000273179.5	+	8	818	c.792C>T	c.(790-792)gaC>gaT	p.D264D	CTDSPL_ENST00000310189.3_3'UTR|CTDSPL_ENST00000443503.2_Silent_p.D253D	NM_001008392.1	NP_001008393.1	O15194	CTDSL_HUMAN	CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) small phosphatase-like	264						extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|phosphoprotein phosphatase activity (GO:0004721)			breast(1)|endometrium(2)|large_intestine(4)|skin(1)	8		Melanoma(1037;0.0122)		KIRC - Kidney renal clear cell carcinoma(284;0.0729)|Kidney(284;0.0902)		GCCGGGAGGACGACGTGTACA	0.622																																						ENST00000443503.2																			0				breast(1)|endometrium(2)|large_intestine(4)|skin(1)	8						c.(757-759)gaC>gaT		CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) small phosphatase-like							155	104	121					3																	38022319		2203	4300	6503	SO:0001819	synonymous_variant	10217					nucleus	metal ion binding|phosphoprotein phosphatase activity	g.chr3:38022319C>T	D88153	CCDS33734.1, CCDS33735.1	3p21.3	2010-06-21	2003-10-27	2003-10-29	ENSG00000144677	ENSG00000144677	3.1.3.16	"Serine/threonine phosphatases / CTD aspartate-based phosphatases"	16890	protein-coding gene	gene with protein product	"small CTD phosphatase 3", "HYA22 protein", "RB protein serine phosphatase from chromosome 3"	608592	"chromosome 3 open reading frame 8"	C3orf8		9179494, 12543795	Standard	NM_005808		Approved	HYA22, SCP3, PSR1, RBSP3	uc003chg.3	O15194	OTTHUMG00000155942	ENST00000273179.5:c.792C>T	3.37:g.38022319C>T						CTDSPL_ENST00000310189.3_3'UTR|CTDSPL_ENST00000273179.5_Silent_p.D264D	p.D253D	NM_005808.2	NP_005799.2	O15194	CTDSL_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0729)|Kidney(284;0.0902)	7	999	+		Melanoma(1037;0.0122)	264			FCP1 homology.		Q3ZTU0|Q70KI4|Q7Z5Q2	Silent	SNP	ENST00000273179.5	37	c.759C>T	CCDS33734.1	.	.	.	.	.	.	.	.	.	.	C	8.551	0.875510	0.17395	.	.	ENSG00000144677	ENST00000436654	.	.	.	5.33	0.0634	0.14348	.	.	.	.	.	T	0.42988	0.1227	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.25847	-1.0120	4	.	.	.	-21.1721	2.8383	0.05522	0.1611:0.4031:0.2863:0.1495	.	.	.	.	M	70	.	.	T	+	2	0	CTDSPL	37997323	0.971000	0.33674	1.000000	0.80357	0.997000	0.91878	0.141000	0.16076	0.316000	0.23135	-0.137000	0.14449	ACG		0.622	CTDSPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342392.1	NM_005808		10	17	0	0	0	1	0	10	17					T	38022319	C	T	38022319	2	4	435	1	0	0	0	0	0	0	0	1	4005	535	19	1		1	CTDSPL	3	38022319	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	9392	38022319	160000111	1726	22651											
VILL	50853	broad.mit.edu	37	chr3	38048184	38048184	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agagggcgtggaccctgcccGcagggaggtgggcaccccct	6	4	17	14	2	0	1	0	0	0	1	0	3	0	3	4	5	1	2	4	5	0	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:38048184G>A	ENST00000283713.6	+	19	2716	c.2450G>A	c.(2449-2451)cGc>cAc	p.R817H	VILL_ENST00000465644.1_Missense_Mutation_p.R535H|VILL_ENST00000383759.2_Missense_Mutation_p.R817H			O15195	VILL_HUMAN	villin-like	817	HP. {ECO:0000255|PROSITE- ProRule:PRU00595}.				actin filament capping (GO:0051693)|cytoskeleton organization (GO:0007010)	actin cytoskeleton (GO:0015629)	structural constituent of cytoskeleton (GO:0005200)			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|stomach(3)|urinary_tract(2)	28				KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)		GACCCTGCCCGCAGGGAGGTG	0.672																																						ENST00000283713.6																			0				cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|stomach(3)|urinary_tract(2)	28						c.(2449-2451)cGc>cAc		villin-like							25	30	28					3																	38048184		2193	4281	6474	SO:0001583	missense	50853				actin filament capping|cytoskeleton organization	actin cytoskeleton	actin binding|structural constituent of cytoskeleton	g.chr3:38048184G>A		CCDS2670.2	3p21	2004-07-28			ENSG00000136059	ENSG00000136059			30906	protein-coding gene	gene with protein product						9179494	Standard	XM_005265191		Approved		uc003chl.3	O15195	OTTHUMG00000130814	ENST00000283713.6:c.2450G>A	3.37:g.38048184G>A	ENSP00000283713:p.Arg817His					VILL_ENST00000383759.2_Missense_Mutation_p.R817H|VILL_ENST00000465644.1_Missense_Mutation_p.R535H	p.R817H			O15195	VILL_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)	19	2716	+			817			HP.		A8MZP1|Q9BT80|Q9BWH7	Missense_Mutation	SNP	ENST00000283713.6	37	c.2450G>A	CCDS2670.2	.	.	.	.	.	.	.	.	.	.	g	11.22	1.575663	0.28092	.	.	ENSG00000136059	ENST00000283713;ENST00000383759;ENST00000356246;ENST00000465644	T;T;T	0.17054	2.42;2.42;2.3	4.19	2.18	0.27775	Villin headpiece (3);	0.729569	0.13219	N	0.404516	T	0.11537	0.0281	L	0.28014	0.82	0.21220	N	0.999751	B	0.18461	0.028	B	0.13407	0.009	T	0.26950	-1.0088	10	0.41790	T	0.15	-7.2818	7.7533	0.28909	0.3113:0.0:0.6887:0.0	.	817	O15195	VILL_HUMAN	H	817;817;803;535	ENSP00000283713:R817H;ENSP00000373266:R817H;ENSP00000422096:R535H	ENSP00000283713:R817H	R	+	2	0	VILL	38023188	0.000000	0.05858	0.955000	0.39395	0.778000	0.44026	0.514000	0.22786	0.240000	0.21263	0.457000	0.33378	CGC		0.672	VILL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253360.3	NM_015873		9	22	0	0	0	1	0	9	22					A	38048184	G	A	38048184	3	1	435	1	0	0	0	0	1	0	0	0	17162	1087	38	1	2520	1	VILL	3	38048184	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	25865	38048184	159974246	1727	22652											
PLCD1	5333	broad.mit.edu	37	chr3	38050790	38050790	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttggagcagtcgaagggcacGgttctcagagaaggacgcca	11	6	15	9	3	1	1	1	0	1	1	3	5	1	3	1	4	1	3	1	4	2	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:38050790G>A	ENST00000334661.4	-	10	1801	c.1579C>T	c.(1579-1581)Cgt>Tgt	p.R527C	PLCD1_ENST00000463876.1_Missense_Mutation_p.R548C|PLCD1_ENST00000479619.1_5'Flank	NM_006225.3	NP_006216.2	P51178	PLCD1_HUMAN	phospholipase C, delta 1	527	PI-PLC Y-box. {ECO:0000255|PROSITE- ProRule:PRU00271}.				angiogenesis (GO:0001525)|inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|labyrinthine layer blood vessel development (GO:0060716)|lipid catabolic process (GO:0016042)|phospholipid metabolic process (GO:0006644)|regulation of cell proliferation (GO:0042127)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|GTPase activating protein binding (GO:0032794)|phosphatidic acid binding (GO:0070300)|phosphatidylinositol phosphate binding (GO:1901981)|phosphatidylinositol phospholipase C activity (GO:0004435)|phosphatidylserine binding (GO:0001786)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(6)|prostate(1)|skin(1)	24				KIRC - Kidney renal clear cell carcinoma(284;0.0519)|Kidney(284;0.0653)		CGAAGGGCACGGTTCTCAGAG	0.587																																						ENST00000463876.1																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(6)|prostate(1)|skin(1)	24						c.(1642-1644)Cgt>Tgt		phospholipase C, delta 1							80	84	83					3																	38050790		2203	4300	6503	SO:0001583	missense	5333				intracellular signal transduction|lipid catabolic process|phospholipid metabolic process	cytoplasm	calcium ion binding|GTPase activating protein binding|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr3:38050790G>A		CCDS2671.1, CCDS46793.1	3p22-p21.3	2013-01-10			ENSG00000187091	ENSG00000187091	3.1.4.11	"EF-hand domain containing"	9060	protein-coding gene	gene with protein product		602142				9345909	Standard	NM_001130964		Approved		uc003chm.3	P51178	OTTHUMG00000130813	ENST00000334661.4:c.1579C>T	3.37:g.38050790G>A	ENSP00000335600:p.Arg527Cys					PLCD1_ENST00000334661.4_Missense_Mutation_p.R527C	p.R548C	NM_001130964.1	NP_001124436.1	P51178	PLCD1_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0519)|Kidney(284;0.0653)	10	1995	-			527			PI-PLC Y-box.		B3KR14|Q86VN8	Missense_Mutation	SNP	ENST00000334661.4	37	c.1642C>T	CCDS2671.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.154462	0.78114	.	.	ENSG00000187091	ENST00000463876;ENST00000334661	T;T	0.68181	-0.31;-0.31	5.19	4.25	0.50352	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);Phospholipase C, phosphatidylinositol-specific, Y domain (3);	0.156135	0.53938	N	0.000047	T	0.73265	0.3565	L	0.49778	1.585	0.53005	D	0.999961	D;D	0.76494	0.999;0.997	D;P	0.63033	0.91;0.892	T	0.75028	-0.3462	10	0.72032	D	0.01	.	11.3632	0.49655	0.0:0.0:0.6585:0.3415	.	527;548	P51178;B3KR14	PLCD1_HUMAN;.	C	548;527	ENSP00000430344:R548C;ENSP00000335600:R527C	ENSP00000335600:R527C	R	-	1	0	PLCD1	38025794	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	3.621000	0.54210	2.606000	0.88127	0.555000	0.69702	CGT		0.587	PLCD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253359.2			24	26	0	0	0	1	0	24	26					A	38050790	G	A	38050790	3	1	435	1	0	0	0	0	1	0	0	0	12031	1116	39	2	715	2	PLCD1	3	38050790	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	2606	38050790	159971640	1728	22653											
DLEC1	9940	broad.mit.edu	37	chr3	38104200	38104200	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaaatccccgtttttttccTcctaacactcgatatggagg	11	13	6	11	2	0	0	0	0	0	0	4	2	3	1	4	2	1	1	4	2	4	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:38104200T>C	ENST00000308059.6	+	5	1023	c.1002T>C	c.(1000-1002)ccT>ccC	p.P334P	DLEC1_ENST00000346219.3_Silent_p.P334P|DLEC1_ENST00000452631.2_Silent_p.P334P					deleted in lung and esophageal cancer 1											NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(3)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	51				KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)		GTTTTTTTCCTCCTAACACTC	0.473																																						ENST00000308059.6																			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(3)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	51						c.(1000-1002)ccT>ccC		deleted in lung and esophageal cancer 1							107	104	105					3																	38104200		1849	4095	5944	SO:0001819	synonymous_variant	9940				negative regulation of cell proliferation	cytoplasm		g.chr3:38104200T>C	AB020522	CCDS2672.2	3p21.3	2014-07-31			ENSG00000008226	ENSG00000008226			2899	protein-coding gene	gene with protein product	"cilia and flagella associated protein 81"	604050				10213508	Standard	XM_005265630		Approved	DLC1, CFAP81	uc003chp.1	Q9Y238	OTTHUMG00000131085	ENST00000308059.6:c.1002T>C	3.37:g.38104200T>C						DLEC1_ENST00000346219.3_Silent_p.P334P|DLEC1_ENST00000452631.2_Silent_p.P334P	p.P334P			Q9Y238	DLEC1_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)	5	1023	+			334						Silent	SNP	ENST00000308059.6	37	c.1002T>C	CCDS2672.2																																																																																				0.473	DLEC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253745.3	NM_007337		13	31	0	0	0	1	0	13	31					C	38104200	T	C	38104200	2	2	435	1	0	0	0	0	0	0	0	1	4552	1538	54	4		4	DLEC1	3	38104200	Silent	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	53410	38104200	159918230	1729	22654											
ACAA1	30	broad.mit.edu	37	chr3	38167088	38167088	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cgcttcagctcattgagcagCgtgatgacctgtcgtgcccc	6	10	11	14	3	2	3	2	3	0	0	3	3	2	3	3	0	4	3	3	0	0	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:38167088C>T	ENST00000333167.8	-	11	1339	c.1167G>A	c.(1165-1167)acG>acA	p.T389T	ACAA1_ENST00000301810.7_Silent_p.T296T|ACAA1_ENST00000480865.1_5'UTR|Y_RNA_ENST00000365095.1_RNA|ACAA1_ENST00000450296.1_Silent_p.T348T	NM_001607.3	NP_001598.1	P09110	THIK_HUMAN	acetyl-CoA acyltransferase 1	389					alpha-linolenic acid metabolic process (GO:0036109)|bile acid metabolic process (GO:0008206)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|small molecule metabolic process (GO:0044281)|unsaturated fatty acid metabolic process (GO:0033559)|very long-chain fatty acid metabolic process (GO:0000038)	intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	acetyl-CoA C-acyltransferase activity (GO:0003988)|palmitoyl-CoA oxidase activity (GO:0016401)			endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)	9				KIRC - Kidney renal clear cell carcinoma(284;0.0523)|Kidney(284;0.0657)		CATTGAGCAGCGTGATGACCT	0.627																																						ENST00000333167.8																			0				endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)	9						c.(1165-1167)acG>acA		acetyl-CoA acyltransferase 1							65	61	63					3																	38167088		2203	4300	6503	SO:0001819	synonymous_variant	30				fatty acid beta-oxidation using acyl-CoA oxidase|generation of precursor metabolites and energy	peroxisomal matrix	acetyl-CoA C-acyltransferase activity|protein binding	g.chr3:38167088C>T	X14813	CCDS2673.1, CCDS46794.1	3p22.2	2012-05-16	2010-04-30		ENSG00000060971	ENSG00000060971	2.3.1.16		82	protein-coding gene	gene with protein product	"peroxisomal 3-oxoacyl-Coenzyme A thiolase"	604054	"acetyl-Coenzyme A acyltransferase 1"				Standard	NM_001607		Approved		uc003cht.3	P09110	OTTHUMG00000131087	ENST00000333167.8:c.1167G>A	3.37:g.38167088C>T						ACAA1_ENST00000450296.1_Silent_p.T348T|ACAA1_ENST00000480865.1_5'UTR|ACAA1_ENST00000301810.7_Silent_p.T296T	p.T389T	NM_001607.3	NP_001598.1	P09110	THIK_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0523)|Kidney(284;0.0657)	11	1339	-			389					G5E935|Q96CA6	Silent	SNP	ENST00000333167.8	37	c.1167G>A	CCDS2673.1	.	.	.	.	.	.	.	.	.	.	C	9.373	1.071081	0.20147	.	.	ENSG00000060971	ENST00000452171;ENST00000421218	.	.	.	5.62	-1.04	0.10068	.	.	.	.	.	T	0.42268	0.1195	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.28933	-1.0028	4	.	.	.	-25.2541	2.6108	0.04890	0.0975:0.3992:0.1686:0.3347	.	.	.	.	H	202;279	.	.	R	-	2	0	ACAA1	38142092	0.000000	0.05858	0.998000	0.56505	0.982000	0.71751	-3.730000	0.00381	0.022000	0.15160	-0.982000	0.02568	CGC		0.627	ACAA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342980.1	NM_001607		11	26	0	0	0	1	0	11	26					T	38167088	C	T	38167088	2	4	435	1	0	0	0	0	0	0	0	1	104	755	27	1		1	ACAA1	3	38167088	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	62888	38167088	159855342	1730	22655											
MYD88	4615	broad.mit.edu	37	chr3	38182003	38182003	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagttgtgtgtgtctgaccgCgatgtcctgcctggcacctg	5	12	13	11	2	1	1	0	1	1	0	2	2	2	1	4	1	1	2	4	1	1	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:38182003C>T	ENST00000396334.3	+	3	811	c.627C>T	c.(625-627)cgC>cgT	p.R209R	MYD88_ENST00000424893.1_Silent_p.R164R|MYD88_ENST00000481122.1_3'UTR|MYD88_ENST00000443433.2_Intron|MYD88_ENST00000495303.1_Intron|MYD88_ENST00000417037.2_Silent_p.R209R	NM_002468.4	NP_002459.2	Q99836	MYD88_HUMAN	myeloid differentiation primary response 88	196	TIR. {ECO:0000255|PROSITE- ProRule:PRU00204}.				3'-UTR-mediated mRNA stabilization (GO:0070935)|cell surface receptor signaling pathway (GO:0007166)|cellular response to mechanical stimulus (GO:0071260)|cytokine-mediated signaling pathway (GO:0019221)|defense response to Gram-positive bacterium (GO:0050830)|establishment of endothelial intestinal barrier (GO:0090557)|immunoglobulin mediated immune response (GO:0016064)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|negative regulation of apoptotic process (GO:0043066)|negative regulation of growth of symbiont in host (GO:0044130)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of chemokine biosynthetic process (GO:0045080)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-17 production (GO:0032740)|positive regulation of interleukin-23 production (GO:0032747)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of JNK cascade (GO:0046330)|positive regulation of lymphocyte proliferation (GO:0050671)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of type I interferon production (GO:0032481)|regulation of inflammatory response (GO:0050727)|response to interleukin-1 (GO:0070555)|response to molecule of fungal origin (GO:0002238)|response to peptidoglycan (GO:0032494)|response to virus (GO:0009615)|signal transduction (GO:0007165)|Toll signaling pathway (GO:0008063)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|type I interferon biosynthetic process (GO:0045351)	cytosol (GO:0005829)|endosome membrane (GO:0010008)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|protein complex (GO:0043234)	death receptor binding (GO:0005123)|identical protein binding (GO:0042802)|TIR domain binding (GO:0070976)	p.R209R(1)		breast(1)|haematopoietic_and_lymphoid_tissue(226)|large_intestine(3)|lung(6)|upper_aerodigestive_tract(1)	237				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		TGTCTGACCGCGATGTCCTGC	0.542			Mis		ABC-DLBCL																																	ENST00000417037.2				Dom	yes		3	3p22	4615	Mis	myeloid differentiation primary response gene (88)			L			ABC-DLBCL		1	Substitution - coding silent(1)	p.R209R(1)	large_intestine(1)	breast(1)|haematopoietic_and_lymphoid_tissue(226)|large_intestine(3)|lung(6)|upper_aerodigestive_tract(1)	237						c.(625-627)cgC>cgT		myeloid differentiation primary response 88							173	148	156					3																	38182003		2203	4300	6503	SO:0001819	synonymous_variant	4615				3'-UTR-mediated mRNA stabilization|anti-apoptosis|cellular response to mechanical stimulus|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-17 production|positive regulation of interleukin-23 production|positive regulation of interleukin-6 production|regulation of inflammatory response|response to interleukin-1|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|intrinsic to membrane|plasma membrane	death receptor binding|TIR domain binding|transmembrane receptor activity	g.chr3:38182003C>T	U84408	CCDS2674.2, CCDS54565.1, CCDS54566.1, CCDS54567.1, CCDS54568.1	3p22	2014-09-17	2012-11-15		ENSG00000172936	ENSG00000172936			7562	protein-coding gene	gene with protein product		602170	"myeloid differentiation primary response gene (88)"			9013863	Standard	NM_002468		Approved		uc003chx.3	Q99836	OTTHUMG00000131083	ENST00000396334.3:c.627C>T	3.37:g.38182003C>T						MYD88_ENST00000495303.1_Intron|MYD88_ENST00000443433.2_Intron|MYD88_ENST00000481122.1_3'UTR|MYD88_ENST00000396334.3_Silent_p.R209R|MYD88_ENST00000424893.1_Silent_p.R164R	p.R209R	NM_001172567.1	NP_001166038.1	Q99836	MYD88_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)	3	811	+			196			TIR.		B4DKH8|B4DKU4|B4DQ60|B4DQ72|J3KPU4|J3KQ87|J3KQJ6|P78397|Q53XS7	Silent	SNP	ENST00000396334.3	37	c.627C>T	CCDS2674.2																																																																																				0.542	MYD88-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253743.4	NM_002468		33	42	0	0	0	1	0	33	42					T	38182003	C	T	38182003	2	4	435	1	0	0	0	0	0	0	0	1	10023	755	27	1		1	MYD88	3	38182003	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	14915	38182003	159840427	1731	22656											
SLC22A14	9389	broad.mit.edu	37	chr3	38354889	38354889	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tgttctgtagctgcagctgcCcagaaagaaggtgactcggg	9	9	14	9	1	1	3	0	1	1	2	2	3	1	3	1	2	4	5	1	2	3	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:38354889C>T	ENST00000273173.4	+	6	1167	c.1076C>T	c.(1075-1077)cCc>cTc	p.P359L	SLC22A14_ENST00000448498.1_Missense_Mutation_p.P359L	NM_004803.3	NP_004794.2	Q9Y267	S22AE_HUMAN	solute carrier family 22, member 14	359					organic cation transport (GO:0015695)	integral component of plasma membrane (GO:0005887)	organic cation transmembrane transporter activity (GO:0015101)			central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(5)|prostate(2)|skin(1)	21				KIRC - Kidney renal clear cell carcinoma(284;0.0554)|Kidney(284;0.0696)		CTGCAGCTGCCCAGAAAGAAG	0.592																																						ENST00000273173.4																			0				central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(5)|prostate(2)|skin(1)	21						c.(1075-1077)cCc>cTc		solute carrier family 22, member 14							107	101	103					3																	38354889		2203	4300	6503	SO:0001583	missense	9389					integral to plasma membrane	organic cation transmembrane transporter activity	g.chr3:38354889C>T	AB011082	CCDS2677.1	3p21.3	2013-05-22	2008-01-11	2003-10-15	ENSG00000144671	ENSG00000144671		"Solute carriers"	8495	protein-coding gene	gene with protein product		604048	"organic cationic transporter-like 4", "solute carrier family 22 (organic cation transporter), member 14"	ORCTL4		10072596	Standard	NM_004803		Approved	OCTL2	uc003cib.2	Q9Y267	OTTHUMG00000131082	ENST00000273173.4:c.1076C>T	3.37:g.38354889C>T	ENSP00000273173:p.Pro359Leu					SLC22A14_ENST00000448498.1_Missense_Mutation_p.P359L	p.P359L	NM_004803.3	NP_004794.2	Q9Y267	S22AE_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0554)|Kidney(284;0.0696)	6	1167	+			359					A0AVS9|A1L4H6|B2RCX3|Q6DJT3	Missense_Mutation	SNP	ENST00000273173.4	37	c.1076C>T	CCDS2677.1	.	.	.	.	.	.	.	.	.	.	C	11.95	1.792579	0.31685	.	.	ENSG00000144671	ENST00000448498;ENST00000423219;ENST00000273173	T;T	0.73575	-0.76;-0.76	3.4	0.351	0.16042	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.438596	0.22957	N	0.053596	T	0.67221	0.2870	L	0.46885	1.475	0.09310	N	1	P	0.43352	0.804	P	0.47346	0.544	T	0.59413	-0.7459	10	0.62326	D	0.03	.	4.0023	0.09585	0.4128:0.4665:0.0:0.1207	.	359	Q9Y267	S22AE_HUMAN	L	359	ENSP00000396283:P359L;ENSP00000273173:P359L	ENSP00000273173:P359L	P	+	2	0	SLC22A14	38329893	0.000000	0.05858	0.000000	0.03702	0.040000	0.13550	0.165000	0.16564	0.050000	0.15949	-0.500000	0.04577	CCC		0.592	SLC22A14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253742.3	NM_004803		31	51	0	0	0	1	0	31	51					T	38354889	C	T	38354889	3	4	435	1	0	0	0	0	1	0	0	0	14445	623	22	3	1098	3	SLC22A14	3	38354889	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	172886	38354889	159667541	1732	22657											
SLC22A14	9389	broad.mit.edu	37	chr3	38357177	38357177	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgtgttcttcctctacaccGctgagctcctccccactgtg	4	13	7	17	1	2	1	0	1	2	0	5	1	5	1	5	0	2	3	5	0	1	3	rs114657493		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:38357177G>A	ENST00000273173.4	+	8	1598	c.1507G>A	c.(1507-1509)Gct>Act	p.A503T	SLC22A14_ENST00000448498.1_Missense_Mutation_p.A503T	NM_004803.3	NP_004794.2	Q9Y267	S22AE_HUMAN	solute carrier family 22, member 14	503					organic cation transport (GO:0015695)	integral component of plasma membrane (GO:0005887)	organic cation transmembrane transporter activity (GO:0015101)			central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(5)|prostate(2)|skin(1)	21				KIRC - Kidney renal clear cell carcinoma(284;0.0554)|Kidney(284;0.0696)		CCTCTACACCGCTGAGCTCCT	0.572																																						ENST00000273173.4																			0				central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(5)|prostate(2)|skin(1)	21						c.(1507-1509)Gct>Act		solute carrier family 22, member 14							186	152	164					3																	38357177		2203	4300	6503	SO:0001583	missense	9389					integral to plasma membrane	organic cation transmembrane transporter activity	g.chr3:38357177G>A	AB011082	CCDS2677.1	3p21.3	2013-05-22	2008-01-11	2003-10-15	ENSG00000144671	ENSG00000144671		"Solute carriers"	8495	protein-coding gene	gene with protein product		604048	"organic cationic transporter-like 4", "solute carrier family 22 (organic cation transporter), member 14"	ORCTL4		10072596	Standard	NM_004803		Approved	OCTL2	uc003cib.2	Q9Y267	OTTHUMG00000131082	ENST00000273173.4:c.1507G>A	3.37:g.38357177G>A	ENSP00000273173:p.Ala503Thr					SLC22A14_ENST00000448498.1_Missense_Mutation_p.A503T	p.A503T	NM_004803.3	NP_004794.2	Q9Y267	S22AE_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0554)|Kidney(284;0.0696)	8	1598	+			503					A0AVS9|A1L4H6|B2RCX3|Q6DJT3	Missense_Mutation	SNP	ENST00000273173.4	37	c.1507G>A	CCDS2677.1	.	.	.	.	.	.	.	.	.	.	G	15.61	2.883927	0.51908	.	.	ENSG00000144671	ENST00000448498;ENST00000423219;ENST00000273173	T;T	0.75050	-0.9;-0.9	4.63	0.442	0.16582	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.286212	0.37906	N	0.001884	T	0.70937	0.3281	L	0.53780	1.695	0.09310	N	1	D	0.54397	0.966	P	0.54026	0.74	T	0.60505	-0.7250	10	0.35671	T	0.21	.	3.4969	0.07658	0.0846:0.141:0.4549:0.3195	.	503	Q9Y267	S22AE_HUMAN	T	503;488;503	ENSP00000396283:A503T;ENSP00000273173:A503T	ENSP00000273173:A503T	A	+	1	0	SLC22A14	38332181	0.001000	0.12720	0.000000	0.03702	0.001000	0.01503	0.967000	0.29344	-0.041000	0.13558	-0.175000	0.13238	GCT		0.572	SLC22A14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253742.3	NM_004803		42	59	0	0	0	1	0	42	59					A	38357177	G	A	38357177	3	1	435	1	0	0	0	0	1	0	0	0	14445	1087	38	1	1537	1	SLC22A14	3	38357177	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	2288	38357177	159665253	1733	22658											
XYLB	9942	broad.mit.edu	37	chr3	38408366	38408366	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggcctactcacatacggaggTtggttaaatgttcctgtttg	8	14	11	8	1	1	0	1	0	0	0	2	1	2	1	2	4	2	4	2	4	4	6	rs149290		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:38408366T>C	ENST00000207870.3	+	7	663		c.e7+2		XYLB_ENST00000542835.1_Splice_Site	NM_005108.3	NP_005099.2	O75191	XYLB_HUMAN	xylulokinase homolog (H. influenzae)						carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|D-xylose metabolic process (GO:0042732)|generation of precursor metabolites and energy (GO:0006091)|xylulose catabolic process (GO:0005998)|xylulose metabolic process (GO:0005997)	extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|xylulokinase activity (GO:0004856)			endometrium(3)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|ovary(1)|prostate(1)	24				KIRC - Kidney renal clear cell carcinoma(284;0.00372)|Kidney(284;0.00405)		CATACGGAGGTTGGTTAAATG	0.363																																						ENST00000207870.3																			0				endometrium(3)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|ovary(1)|prostate(1)	24						c.e7+2		xylulokinase homolog (H. influenzae)							78	79	79					3																	38408366		2203	4300	6503	SO:0001630	splice_region_variant	9942				D-xylose metabolic process|generation of precursor metabolites and energy|xylulose catabolic process		ATP binding|xylulokinase activity	g.chr3:38408366T>C	AB015046	CCDS2678.1	3p22-p21.3	2006-12-18	2001-12-04		ENSG00000093217	ENSG00000093217			12839	protein-coding gene	gene with protein product		604049	"xylulokinase (H. influenzae) homolog"			9763671	Standard	NM_005108		Approved	FLJ10343, FLJ12539	uc003cic.2	O75191	OTTHUMG00000131294	ENST00000207870.3:c.573+2T>C	3.37:g.38408366T>C						XYLB_ENST00000542835.1_Splice_Site		NM_005108.3	NP_005099.2	O75191	XYLB_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.00372)|Kidney(284;0.00405)	7	663	+								B2RAW4|B4DDT2|B9EH64	Splice_Site	SNP	ENST00000207870.3	37		CCDS2678.1	.	.	.	.	.	.	.	.	.	.	t	19.18	3.778658	0.70107	.	.	ENSG00000093217	ENST00000207870;ENST00000542835	.	.	.	4.82	4.82	0.62117	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.9986	0.58662	0.0:0.0:0.0:1.0	rs149290;rs531251;rs1149076	.	.	.	.	-1	.	.	.	+	.	.	XYLB	38383370	1.000000	0.71417	0.995000	0.50966	0.992000	0.81027	6.131000	0.71670	2.115000	0.64714	0.449000	0.29647	.		0.363	XYLB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254062.2	NM_005108	Intron	15	29	0	0	0	1	0	15	29					C	38408366	T	C	38408366	5	2	435	1	0	0	0	0	0	0	1	0	17459	1739	60	4	601	4	XYLB	3	38408366	Splice_Site	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	51189	38408366	159614064	1734	22659											
EXOG	9941	broad.mit.edu	37	chr3	38545115	38545115	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tttctttacagaaagccatgGctgaaaccttttacctttct	10	16	5	10	0	2	2	0	1	2	1	2	2	2	2	3	1	4	1	3	1	4	6			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:38545115G>A	ENST00000287675.5	+	4	559	c.463G>A	c.(463-465)Gct>Act	p.A155T	Y_RNA_ENST00000384781.1_RNA|EXOG_ENST00000422077.2_Missense_Mutation_p.A105T|EXOG_ENST00000358249.2_Missense_Mutation_p.A15T	NM_005107.3	NP_005098.2	Q9Y2C4	EXOG_HUMAN	endo/exonuclease (5'-3'), endonuclease G-like	155					DNA catabolic process, endonucleolytic (GO:0000737)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			central_nervous_system(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|urinary_tract(2)	17						GAAAGCCATGGCTGAAACCTT	0.318																																						ENST00000287675.5																			0				central_nervous_system(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|urinary_tract(2)	17						c.(463-465)Gct>Act		endo/exonuclease (5'-3'), endonuclease G-like							95	97	97					3																	38545115		2203	4300	6503	SO:0001583	missense	9941					mitochondrial inner membrane	endonuclease activity|metal ion binding|nucleic acid binding	g.chr3:38545115G>A	AB020523	CCDS2680.1, CCDS46795.1	3p21.3	2010-05-07	2009-01-08	2009-01-08	ENSG00000157036	ENSG00000157036	3.1.30.-		3347	protein-coding gene	gene with protein product		604051	"endonuclease G-like 1", "endonuclease G-like 2"	ENDOGL1, ENDOGL2		10231028, 18187503	Standard	NM_005107		Approved	ENGL-a, ENGL, ENGL-b	uc003cih.2	Q9Y2C4	OTTHUMG00000131295	ENST00000287675.5:c.463G>A	3.37:g.38545115G>A	ENSP00000287675:p.Ala155Thr					EXOG_ENST00000422077.2_Missense_Mutation_p.A105T|EXOG_ENST00000358249.2_Missense_Mutation_p.A15T	p.A155T	NM_005107.3	NP_005098.2	Q9Y2C4	EXOG_HUMAN			4	559	+			155					A8K242|B4DVG2|Q3SXM9|Q9Y2C8	Missense_Mutation	SNP	ENST00000287675.5	37	c.463G>A	CCDS2680.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.6|20.6	4.016891|4.016891	0.75161|0.75161	.|.	.|.	ENSG00000157036|ENSG00000157036	ENST00000287675;ENST00000358249;ENST00000422077|ENST00000453767	T;T;T|.	0.67523|.	-0.27;-0.27;-0.27|.	4.51|4.51	3.56|3.56	0.40772|0.40772	DNA/RNA non-specific endonuclease (2);Extracellular Endonuclease, subunit A (2);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.70378|0.70378	0.3217|0.3217	M|M	0.62154|0.62154	1.92|1.92	0.38780|0.38780	D|D	0.95474|0.95474	P;D|.	0.54601|.	0.913;0.967|.	B;P|.	0.50537|.	0.384;0.643|.	T|T	0.72475|0.72475	-0.4282|-0.4282	10|5	0.17832|.	T|.	0.49|.	-15.2447|-15.2447	15.3041|15.3041	0.73979|0.73979	0.0:0.1405:0.8595:0.0|0.0:0.1405:0.8595:0.0	.|.	105;155|.	Q9Y2C4-4;Q9Y2C4|.	.;EXOG_HUMAN|.	T|D	155;15;105|117	ENSP00000287675:A155T;ENSP00000350987:A15T;ENSP00000404305:A105T|.	ENSP00000287675:A155T|.	A|G	+|+	1|2	0|0	EXOG|EXOG	38520119|38520119	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	5.080000|5.080000	0.64437|0.64437	2.512000|2.512000	0.84698|0.84698	0.591000|0.591000	0.81541|0.81541	GCT|GGC		0.318	EXOG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254063.2	NM_005107		25	46	0	0	0	1	0	25	46					A	38545115	G	A	38545115	3	1	435	1	0	0	0	0	1	0	0	0	5312	1203	42	3	477	3	EXOG	3	38545115	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	136749	38545115	159477315	1735	22660											
SCN10A	6336	broad.mit.edu	37	chr3	38783942	38783942	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tcttgagcttcacccacatgGggcagcaatcccagatcaga	11	8	9	13	0	3	3	2	1	1	2	4	3	4	3	2	2	2	3	2	2	1	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:38783942G>T	ENST00000449082.2	-	13	1945	c.1946C>A	c.(1945-1947)cCc>cAc	p.P649H		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	649					AV node cell to bundle of His cell communication (GO:0086067)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of cardiac muscle contraction (GO:0055117)|regulation of heart rate (GO:0002027)|regulation of ion transmembrane transport (GO:0034765)|sensory perception (GO:0007600)|sensory perception of pain (GO:0019233)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	C-fiber (GO:0044299)|extracellular vesicular exosome (GO:0070062)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cinchocaine(DB00527)|Cocaine(DB00907)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Lacosamide(DB06218)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Orphenadrine(DB01173)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)|Valproic Acid(DB00313)	CACCCACATGGGGCAGCAATC	0.502																																						ENST00000449082.2																			0				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150						c.(1945-1947)cCc>cAc		sodium channel, voltage-gated, type X, alpha subunit	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)						161	145	151					3																	38783942		2203	4300	6503	SO:0001583	missense	6336				sensory perception	voltage-gated sodium channel complex		g.chr3:38783942G>T	AF117907	CCDS33736.1	3p22.2	2012-02-26	2007-01-23		ENSG00000185313	ENSG00000185313		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10582	protein-coding gene	gene with protein product		604427	"sodium channel, voltage-gated, type X, alpha polypeptide"			9839820, 10198179, 16382098	Standard	NM_006514		Approved	Nav1.8, hPN3, SNS, PN3	uc003ciq.3	Q9Y5Y9	OTTHUMG00000048245	ENST00000449082.2:c.1946C>A	3.37:g.38783942G>T	ENSP00000390600:p.Pro649His						p.P649H	NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	13	1945	-			649					A6NDQ1	Missense_Mutation	SNP	ENST00000449082.2	37	c.1946C>A	CCDS33736.1	.	.	.	.	.	.	.	.	.	.	G	18.94	3.730261	0.69074	.	.	ENSG00000185313	ENST00000449082	D	0.96334	-3.98	4.42	4.42	0.53409	.	0.000000	0.85682	D	0.000000	D	0.96911	0.8991	M	0.81802	2.56	0.38712	D	0.953242	D	0.60160	0.987	P	0.53988	0.739	D	0.97294	0.9926	10	0.52906	T	0.07	.	12.3227	0.54993	0.0:0.0:0.8308:0.1692	.	649	Q9Y5Y9	SCNAA_HUMAN	H	649	ENSP00000390600:P649H	ENSP00000390600:P649H	P	-	2	0	SCN10A	38758946	1.000000	0.71417	0.781000	0.31783	0.766000	0.43426	3.535000	0.53575	2.445000	0.82738	0.585000	0.79938	CCC		0.502	SCN10A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109745.3	NM_006514		23	45	1	0	2.32416e-17	1	2.5579e-17	23	45					T	38783942	G	T	38783942	3	4	435	1	0	0	0	0	1	0	0	0	13912	1232	43	5	3984	5	SCN10A	3	38783942	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	238827	38783942	159238488	1736	22661											
SCN11A	11280	broad.mit.edu	37	chr3	38936264	38936264	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cctcctgccacctctttttgCtgtggtaagttttgcttcct	3	18	7	13	0	1	0	0	0	1	0	3	0	3	0	5	1	3	4	5	1	1	6			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:38936264C>A	ENST00000302328.3	-	15	2793	c.2595G>T	c.(2593-2595)caG>caT	p.Q865H	SCN11A_ENST00000456224.3_Missense_Mutation_p.Q865H|SCN11A_ENST00000450244.1_Missense_Mutation_p.Q865H|SCN11A_ENST00000444237.2_Missense_Mutation_p.Q865H	NM_014139.2	NP_054858.2	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	865					cell death (GO:0008219)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|regulation of sensory perception of pain (GO:0051930)|response to drug (GO:0042493)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	C-fiber (GO:0044299)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)|Valproic Acid(DB00313)|Zonisamide(DB00909)	CCTCTTTTTGCTGTGGTAAGT	0.502																																						ENST00000302328.3																			0				NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119						c.(2593-2595)caG>caT		sodium channel, voltage-gated, type XI, alpha subunit	Cocaine(DB00907)						104	102	103					3																	38936264		2203	4300	6503	SO:0001583	missense	11280				response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr3:38936264C>A	AF126739	CCDS33737.1	3p22.2	2012-02-26	2007-01-23		ENSG00000168356	ENSG00000168356		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10583	protein-coding gene	gene with protein product		604385	"sodium channel, voltage-gated, type XI, alpha polypeptide", "sodium channel, voltage-gated, type XII, alpha"	SCN12A		10444332, 16382098	Standard	NM_014139		Approved	Nav1.9, NaN, SNS-2	uc021wvy.1	Q9UI33	OTTHUMG00000048246	ENST00000302328.3:c.2595G>T	3.37:g.38936264C>A	ENSP00000307599:p.Gln865His					SCN11A_ENST00000444237.2_Missense_Mutation_p.Q865H|SCN11A_ENST00000456224.3_Missense_Mutation_p.Q865H|SCN11A_ENST00000450244.1_Missense_Mutation_p.Q865H	p.Q865H	NM_014139.2	NP_054858.2	Q9UI33	SCNBA_HUMAN		Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	15	2793	-			865					A6NN05|C9JD48|C9JR31|Q68K15|Q8NDX3|Q9UHE0|Q9UHM0	Missense_Mutation	SNP	ENST00000302328.3	37	c.2595G>T	CCDS33737.1	.	.	.	.	.	.	.	.	.	.	C	10.64	1.406647	0.25378	.	.	ENSG00000168356	ENST00000302328;ENST00000450244;ENST00000456224;ENST00000444237	D;D;D;D	0.84070	-1.8;-1.8;-1.8;-1.8	5.38	2.42	0.29668	Sodium ion transport-associated (1);	1.258710	0.05318	N	0.526038	T	0.70211	0.3198	N	0.08118	0	0.09310	N	1	B	0.27971	0.196	B	0.34452	0.183	T	0.62220	-0.6900	10	0.48119	T	0.1	.	5.4283	0.16438	0.0:0.5594:0.1435:0.2971	.	865	Q9UI33	SCNBA_HUMAN	H	865	ENSP00000307599:Q865H;ENSP00000400945:Q865H;ENSP00000416757:Q865H;ENSP00000408028:Q865H	ENSP00000307599:Q865H	Q	-	3	2	SCN11A	38911268	0.000000	0.05858	0.018000	0.16275	0.013000	0.08279	-0.660000	0.05317	0.754000	0.32968	0.650000	0.86243	CAG		0.502	SCN11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109746.4	NM_014139		28	66	1	0	5.6714e-07	1	5.92535e-07	28	66					A	38936264	C	A	38936264	3	1	435	1	0	0	0	0	1	0	0	0	13913	796	28	5	2828	5	SCN11A	3	38936264	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	152322	38936264	159086166	1737	22662											
TTC21A	199223	broad.mit.edu	37	chr3	39159586	39159586	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agaaaaagatgagagcaataTtgatgcctgccaaattctaa	18	9	8	6	0	1	4	0	2	1	3	1	5	1	4	2	0	3	1	2	0	6	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:39159586T>C	ENST00000431162.2	+	7	877	c.743T>C	c.(742-744)aTt>aCt	p.I248T	TTC21A_ENST00000301819.6_Missense_Mutation_p.I248T|TTC21A_ENST00000440121.1_Missense_Mutation_p.I207T			Q8NDW8	TT21A_HUMAN	tetratricopeptide repeat domain 21A	248										NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(23)|ovary(1)|prostate(1)|skin(3)	50				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)		GAGAGCAATATTGATGCCTGC	0.428																																						ENST00000301819.6																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(23)|ovary(1)|prostate(1)|skin(3)	50						c.(742-744)aTt>aCt		tetratricopeptide repeat domain 21A							155	160	158					3																	39159586		2085	4220	6305	SO:0001583	missense	199223						binding	g.chr3:39159586T>C	AJ487015	CCDS43068.1, CCDS46800.1, CCDS43068.2	3p22.2	2014-09-04			ENSG00000168026	ENSG00000168026		"Tetratricopeptide (TTC) repeat domain containing"	30761	protein-coding gene	gene with protein product		611430					Standard	NM_145755		Approved	STI2	uc003cjc.2	Q8NDW8	OTTHUMG00000155973	ENST00000431162.2:c.743T>C	3.37:g.39159586T>C	ENSP00000398211:p.Ile248Thr					TTC21A_ENST00000431162.2_Missense_Mutation_p.I248T|TTC21A_ENST00000440121.1_Missense_Mutation_p.I207T	p.I248T	NM_145755.2	NP_665698.2	Q8NDW8	TT21A_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)	7	920	+			248					A1L388|B4DYF6|B4DYJ3|D3YTE7|D4PHA5|Q6P5W8|Q8N7G5|Q8NA02	Missense_Mutation	SNP	ENST00000431162.2	37	c.743T>C	CCDS46800.1	.	.	.	.	.	.	.	.	.	.	T	18.47	3.630915	0.67015	.	.	ENSG00000168026	ENST00000301819;ENST00000424305;ENST00000431162;ENST00000440121	T;T;T	0.58210	0.35;0.35;2.31	5.43	5.43	0.79202	Tetratricopeptide-like helical (1);	0.104677	0.42964	D	0.000633	T	0.67468	0.2896	M	0.73962	2.25	0.23802	N	0.996809	D;D;D;D;D	0.76494	0.997;0.999;0.999;0.998;0.999	D;D;D;P;D	0.65443	0.926;0.935;0.935;0.863;0.935	T	0.61412	-0.7068	10	0.15952	T	0.53	-7.2065	13.4454	0.61138	0.0:0.0:0.0:1.0	.	207;248;248;248;248	Q8NDW8-6;Q8NDW8-5;Q8NDW8-7;Q8NDW8;F5H6V8	.;.;.;TT21A_HUMAN;.	T	248;248;248;207	ENSP00000301819:I248T;ENSP00000398211:I248T;ENSP00000410882:I207T	ENSP00000301819:I248T	I	+	2	0	TTC21A	39134590	0.977000	0.34250	0.033000	0.17914	0.990000	0.78478	3.590000	0.53979	2.064000	0.61679	0.460000	0.39030	ATT		0.428	TTC21A-021	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000377829.1	NM_145755		44	63	0	0	0	1	0	44	63					C	39159586	T	C	39159586	3	2	435	1	0	0	0	0	1	0	0	0	16684	1493	52	4	769	4	TTC21A	3	39159586	Missense_Mutation	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	223322	39159586	158862844	1738	22663											
XIRP1	165904	broad.mit.edu	37	chr3	39225883	39225883	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggttgcccttaaagctgggaGtctctagaggcttccttgtg	6	13	13	9	0	1	1	0	0	1	1	3	2	2	2	2	3	2	3	2	3	3	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:39225883G>A	ENST00000340369.3	-	2	5282	c.5054C>T	c.(5053-5055)aCt>aTt	p.T1685I	XIRP1_ENST00000396251.1_3'UTR|XIRP1_ENST00000421646.1_Missense_Mutation_p.T368I	NM_194293.2	NP_919269.2	Q702N8	XIRP1_HUMAN	xin actin-binding repeat containing 1	1685	Interaction with FLNC.				cardiac muscle cell development (GO:0055013)|negative regulation of cell proliferation (GO:0008285)|regulation of membrane potential (GO:0042391)|sarcomere organization (GO:0045214)	fascia adherens (GO:0005916)	poly(A) RNA binding (GO:0044822)			breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6)	71				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		AAAGCTGGGAGTCTCTAGAGG	0.532																																						ENST00000340369.3																			0				breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6)	71						c.(5053-5055)aCt>aTt		xin actin-binding repeat containing 1							95	100	98					3																	39225883		2203	4300	6503	SO:0001583	missense	165904						actin binding	g.chr3:39225883G>A	AW755250	CCDS2683.1, CCDS56245.1	3p21.33	2008-02-05	2007-06-27	2007-06-27	ENSG00000168334	ENSG00000168334			14301	protein-coding gene	gene with protein product		609777	"cardiomyopathy associated 1"	CMYA1		12203715, 15454575	Standard	NM_001198621		Approved	DKFZp451D042, Xin	uc003cjk.2	Q702N8	OTTHUMG00000131297	ENST00000340369.3:c.5054C>T	3.37:g.39225883G>A	ENSP00000343140:p.Thr1685Ile					XIRP1_ENST00000421646.1_Missense_Mutation_p.T368I|XIRP1_ENST00000396251.1_3'UTR	p.T1685I	NM_194293.2	NP_919269.2	Q702N8	XIRP1_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)	2	5282	-			1685			Interaction with FLNC.		A0JP25|A4QPE2|Q68DF2|Q6ZTR3|Q702N9|Q8IVN7|Q8N1N3|Q8N904|Q8TCG7	Missense_Mutation	SNP	ENST00000340369.3	37	c.5054C>T	CCDS2683.1	.	.	.	.	.	.	.	.	.	.	G	2.321	-0.355650	0.05138	.	.	ENSG00000168334	ENST00000340369;ENST00000421646	T;T	0.17528	3.95;2.27	4.4	2.22	0.28083	.	1.033930	0.07664	U	0.934176	T	0.11410	0.0278	N	0.22421	0.69	0.09310	N	1	B	0.17268	0.021	B	0.14578	0.011	T	0.34527	-0.9825	10	0.54805	T	0.06	.	3.8397	0.08909	0.1429:0.0:0.4668:0.3902	.	1685	Q702N8	XIRP1_HUMAN	I	1685;368	ENSP00000343140:T1685I;ENSP00000391645:T368I	ENSP00000343140:T1685I	T	-	2	0	XIRP1	39200887	0.000000	0.05858	0.001000	0.08648	0.072000	0.16883	0.220000	0.17660	0.403000	0.25479	0.655000	0.94253	ACT		0.532	XIRP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254065.1	XM_093522		32	59	0	0	0	1	0	32	59					A	39225883	G	A	39225883	3	1	435	1	0	0	0	0	1	0	0	0	17426	1029	36	3	481	3	XIRP1	3	39225883	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	66297	39225883	158796547	1739	22664											
XIRP1	165904	broad.mit.edu	37	chr3	39227003	39227003	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	catggtggggtccagttttgGggtctttgtctgtgaccctc	3	15	14	9	0	2	1	0	1	2	0	4	1	3	1	2	5	0	1	2	5	0	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:39227003G>A	ENST00000340369.3	-	2	4162	c.3934C>T	c.(3934-3936)Cca>Tca	p.P1312S	XIRP1_ENST00000396251.1_3'UTR|XIRP1_ENST00000421646.1_5'UTR	NM_194293.2	NP_919269.2	Q702N8	XIRP1_HUMAN	xin actin-binding repeat containing 1	1312	Pro-rich.				cardiac muscle cell development (GO:0055013)|negative regulation of cell proliferation (GO:0008285)|regulation of membrane potential (GO:0042391)|sarcomere organization (GO:0045214)	fascia adherens (GO:0005916)	poly(A) RNA binding (GO:0044822)			breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6)	71				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		TCCAGTTTTGGGGTCTTTGTC	0.622																																						ENST00000340369.3																			0				breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6)	71						c.(3934-3936)Cca>Tca		xin actin-binding repeat containing 1							44	52	49					3																	39227003		2198	4298	6496	SO:0001583	missense	165904						actin binding	g.chr3:39227003G>A	AW755250	CCDS2683.1, CCDS56245.1	3p21.33	2008-02-05	2007-06-27	2007-06-27	ENSG00000168334	ENSG00000168334			14301	protein-coding gene	gene with protein product		609777	"cardiomyopathy associated 1"	CMYA1		12203715, 15454575	Standard	NM_001198621		Approved	DKFZp451D042, Xin	uc003cjk.2	Q702N8	OTTHUMG00000131297	ENST00000340369.3:c.3934C>T	3.37:g.39227003G>A	ENSP00000343140:p.Pro1312Ser					XIRP1_ENST00000421646.1_5'UTR|XIRP1_ENST00000396251.1_3'UTR	p.P1312S	NM_194293.2	NP_919269.2	Q702N8	XIRP1_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)	2	4162	-			1312			Pro-rich.		A0JP25|A4QPE2|Q68DF2|Q6ZTR3|Q702N9|Q8IVN7|Q8N1N3|Q8N904|Q8TCG7	Missense_Mutation	SNP	ENST00000340369.3	37	c.3934C>T	CCDS2683.1	.	.	.	.	.	.	.	.	.	.	G	0.001	-2.892693	0.00059	.	.	ENSG00000168334	ENST00000340369	T	0.03607	3.87	4.19	-1.97	0.07503	.	0.689325	0.10929	N	0.618541	T	0.01627	0.0052	N	0.08118	0	0.09310	N	0.999998	B	0.02656	0.0	B	0.04013	0.001	T	0.46857	-0.9161	10	0.25751	T	0.34	.	2.0297	0.03527	0.2771:0.134:0.4525:0.1365	.	1312	Q702N8	XIRP1_HUMAN	S	1312	ENSP00000343140:P1312S	ENSP00000343140:P1312S	P	-	1	0	XIRP1	39202007	0.005000	0.15991	0.000000	0.03702	0.050000	0.14768	0.604000	0.24164	-0.441000	0.07201	-2.924000	0.00089	CCA		0.622	XIRP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254065.1	XM_093522		23	33	0	0	0	1	0	23	33					A	39227003	G	A	39227003	3	1	435	1	0	0	0	0	1	0	0	0	17426	1232	43	3	1601	3	XIRP1	3	39227003	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	1120	39227003	158795427	1740	22665											
XIRP1	165904	broad.mit.edu	37	chr3	39227656	39227656	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tttgggtagccccagctttcCgaagaccgtcctggatgggg	6	10	14	11	2	0	1	0	0	0	1	2	3	2	2	5	4	2	2	5	4	2	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:39227656C>T	ENST00000340369.3	-	2	3509	c.3281G>A	c.(3280-3282)cGg>cAg	p.R1094Q	XIRP1_ENST00000396251.1_Missense_Mutation_p.R1094Q|XIRP1_ENST00000421646.1_Intron	NM_194293.2	NP_919269.2	Q702N8	XIRP1_HUMAN	xin actin-binding repeat containing 1	1094					cardiac muscle cell development (GO:0055013)|negative regulation of cell proliferation (GO:0008285)|regulation of membrane potential (GO:0042391)|sarcomere organization (GO:0045214)	fascia adherens (GO:0005916)	poly(A) RNA binding (GO:0044822)			breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6)	71				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		CCCAGCTTTCCGAAGACCGTC	0.592																																						ENST00000340369.3																			0				breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6)	71						c.(3280-3282)cGg>cAg		xin actin-binding repeat containing 1							60	59	59					3																	39227656		2203	4299	6502	SO:0001583	missense	165904						actin binding	g.chr3:39227656C>T	AW755250	CCDS2683.1, CCDS56245.1	3p21.33	2008-02-05	2007-06-27	2007-06-27	ENSG00000168334	ENSG00000168334			14301	protein-coding gene	gene with protein product		609777	"cardiomyopathy associated 1"	CMYA1		12203715, 15454575	Standard	NM_001198621		Approved	DKFZp451D042, Xin	uc003cjk.2	Q702N8	OTTHUMG00000131297	ENST00000340369.3:c.3281G>A	3.37:g.39227656C>T	ENSP00000343140:p.Arg1094Gln					XIRP1_ENST00000421646.1_Intron|XIRP1_ENST00000396251.1_Missense_Mutation_p.R1094Q	p.R1094Q	NM_194293.2	NP_919269.2	Q702N8	XIRP1_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)	2	3509	-			1094					A0JP25|A4QPE2|Q68DF2|Q6ZTR3|Q702N9|Q8IVN7|Q8N1N3|Q8N904|Q8TCG7	Missense_Mutation	SNP	ENST00000340369.3	37	c.3281G>A	CCDS2683.1	.	.	.	.	.	.	.	.	.	.	C	0.005	-2.213438	0.00289	.	.	ENSG00000168334	ENST00000396251;ENST00000340369	T;T	0.04603	3.59;4.1	2.72	-5.43	0.02632	.	8.845330	0.02454	U	0.085859	T	0.02571	0.0078	N	0.12182	0.205	0.09310	N	1	B;B	0.33238	0.403;0.395	B;B	0.29785	0.05;0.107	T	0.35871	-0.9771	10	0.12430	T	0.62	.	7.1983	0.25866	0.1705:0.3289:0.5006:0.0	.	1094;1094	Q702N8;Q702N8-2	XIRP1_HUMAN;.	Q	1094	ENSP00000379550:R1094Q;ENSP00000343140:R1094Q	ENSP00000343140:R1094Q	R	-	2	0	XIRP1	39202660	0.000000	0.05858	0.000000	0.03702	0.029000	0.11900	-4.228000	0.00270	-1.881000	0.01123	-0.271000	0.10264	CGG		0.592	XIRP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254065.1	XM_093522		31	33	0	0	0	1	0	31	33					T	39227656	C	T	39227656	3	4	435	1	0	0	0	0	1	0	0	0	17426	652	23	2	2254	2	XIRP1	3	39227656	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	653	39227656	158794774	1741	22666											
MYRIP	25924	broad.mit.edu	37	chr3	40275408	40275408	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	agtcctgaaagtcatcaatgCcacagaggagttgatagcag	14	8	11	8	0	2	3	2	2	0	1	3	4	3	4	2	1	2	2	2	1	3	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:40275408C>T	ENST00000302541.6	+	12	2306	c.1964C>T	c.(1963-1965)gCc>gTc	p.A655V	MYRIP_ENST00000425621.1_Intron|MYRIP_ENST00000396217.3_Missense_Mutation_p.A566V|MYRIP_ENST00000459828.1_3'UTR|MYRIP_ENST00000539167.1_Missense_Mutation_p.A468V|MYRIP_ENST00000444716.1_Missense_Mutation_p.A655V	NM_001284423.1|NM_001284426.1|NM_015460.2	NP_001271352.1|NP_001271355.1|NP_056275.2	Q8NFW9	MYRIP_HUMAN	myosin VIIA and Rab interacting protein	655	Actin-binding.				intracellular protein transport (GO:0006886)|positive regulation of insulin secretion (GO:0032024)	actin cytoskeleton (GO:0015629)|dense core granule (GO:0031045)|exocyst (GO:0000145)|melanosome (GO:0042470)|perinuclear region of cytoplasm (GO:0048471)|photoreceptor outer segment (GO:0001750)|synapse (GO:0045202)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(2)|lung(10)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				KIRC - Kidney renal clear cell carcinoma(284;0.174)|Kidney(284;0.206)		GTCATCAATGCCACAGAGGAG	0.507																																						ENST00000302541.6																			0				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(2)|lung(10)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						c.(1963-1965)gCc>gTc		myosin VIIA and Rab interacting protein							89	85	86					3																	40275408		2203	4300	6503	SO:0001583	missense	25924				intracellular protein transport		actin binding|zinc ion binding	g.chr3:40275408C>T	AF396687	CCDS2689.1, CCDS68390.1, CCDS68391.1, CCDS68392.1	3p21.33	2010-08-20			ENSG00000170011	ENSG00000170011		"A-kinase anchor proteins"	19156	protein-coding gene	gene with protein product	"synaptotagmin-like protein homologue lacking C2 domains-c", "rab effector MYRIP", "Slp homologue lacking C2 domains"	611790				11964381, 12221080	Standard	NM_001284425		Approved	DKFZp586F1018, exophilin-8, MyRIP, SLAC2-C, SLAC2C	uc003cka.3	Q8NFW9	OTTHUMG00000131392	ENST00000302541.6:c.1964C>T	3.37:g.40275408C>T	ENSP00000301972:p.Ala655Val					MYRIP_ENST00000459828.1_3'UTR|MYRIP_ENST00000539167.1_Missense_Mutation_p.A468V|MYRIP_ENST00000396217.3_Missense_Mutation_p.A566V|MYRIP_ENST00000425621.1_Intron|MYRIP_ENST00000444716.1_Missense_Mutation_p.A655V	p.A655V	NM_015460.2	NP_056275.2	Q8NFW9	MYRIP_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.174)|Kidney(284;0.206)	12	2306	+			655			Actin-binding.		B3KWM3|B3KWW4|B7Z2H1|B7Z9V3|G3XAI8|Q32M41|Q32M42|Q569F7|Q8IUF5|Q9Y3V4	Missense_Mutation	SNP	ENST00000302541.6	37	c.1964C>T	CCDS2689.1	.	.	.	.	.	.	.	.	.	.	C	29.8	5.038435	0.93630	.	.	ENSG00000170011	ENST00000444716;ENST00000302541;ENST00000396217;ENST00000539167	T;T;T;T	0.37058	1.22;1.22;1.22;1.22	5.79	5.79	0.91817	Myelin-associated oligodendrocytic basic protein (MOBP) (1);	0.000000	0.85682	D	0.000000	T	0.57154	0.2034	M	0.62723	1.935	0.46749	D	0.999188	D;D	0.67145	0.978;0.996	P;D	0.67900	0.905;0.954	T	0.52298	-0.8594	9	.	.	.	.	17.5338	0.87822	0.0:1.0:0.0:0.0	.	566;655	Q32M42;Q8NFW9	.;MYRIP_HUMAN	V	655;655;566;468	ENSP00000398665:A655V;ENSP00000301972:A655V;ENSP00000379519:A566V;ENSP00000438297:A468V	.	A	+	2	0	MYRIP	40250412	1.000000	0.71417	0.993000	0.49108	0.995000	0.86356	6.710000	0.74670	2.733000	0.93635	0.655000	0.94253	GCC		0.507	MYRIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254181.2	NM_015460		16	36	0	0	0	1	0	16	36					T	40275408	C	T	40275408	3	4	435	1	0	0	0	0	1	0	0	0	10100	739	26	3	2006	3	MYRIP	3	40275408	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	1047752	40275408	157747022	1742	22667											
ENTPD3	956	broad.mit.edu	37	chr3	40453444	40453444	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gggagccacggctgggatgcGcttgctgaggtaaaggctaa	9	7	17	8	2	0	1	0	1	0	0	0	3	0	3	1	5	3	5	1	5	3	3	rs145124056		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:40453444G>A	ENST00000301825.3	+	5	546	c.428G>A	c.(427-429)cGc>cAc	p.R143H	ENTPD3-AS1_ENST00000439293.1_RNA|ENTPD3_ENST00000445129.1_Missense_Mutation_p.R143H|ENTPD3-AS1_ENST00000425156.1_RNA|ENTPD3_ENST00000456402.1_Missense_Mutation_p.R143H|ENTPD3-AS1_ENST00000452768.1_RNA	NM_001248.2	NP_001239.2	O75355	ENTP3_HUMAN	ectonucleoside triphosphate diphosphohydrolase 3	143					nucleoside diphosphate catabolic process (GO:0009134)|nucleoside triphosphate catabolic process (GO:0009143)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|nucleoside-diphosphatase activity (GO:0017110)|nucleoside-triphosphatase activity (GO:0017111)			endometrium(1)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18				KIRC - Kidney renal clear cell carcinoma(284;0.0605)|Kidney(284;0.0758)		GCTGGGATGCGCTTGCTGAGG	0.502																																						ENST00000301825.3																			0				endometrium(1)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						c.(427-429)cGc>cAc		ectonucleoside triphosphate diphosphohydrolase 3		G	HIS/ARG	0,4406		0,0,2203	53	43	46		428	5.6	1	3	dbSNP_134	46	1,8599	1.2+/-3.3	0,1,4299	no	missense	ENTPD3	NM_001248.2	29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	143/530	40453444	1,13005	2203	4300	6503	SO:0001583	missense	956					integral to membrane	ATP binding|hydrolase activity	g.chr3:40453444G>A	AF039917	CCDS2691.1, CCDS74919.1	3p21.3	2004-02-26			ENSG00000168032	ENSG00000168032			3365	protein-coding gene	gene with protein product		603161		CD39L3		9676430	Standard	XM_005265605		Approved	NTPDase-3, HB6	uc003ckd.4	O75355	OTTHUMG00000131390	ENST00000301825.3:c.428G>A	3.37:g.40453444G>A	ENSP00000301825:p.Arg143His					ENTPD3_ENST00000445129.1_Missense_Mutation_p.R143H|ENTPD3_ENST00000456402.1_Missense_Mutation_p.R143H|ENTPD3-AS1_ENST00000439293.1_RNA|ENTPD3-AS1_ENST00000452768.1_RNA|ENTPD3-AS1_ENST00000425156.1_RNA	p.R143H	NM_001248.2	NP_001239.2	O75355	ENTP3_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0605)|Kidney(284;0.0758)	5	546	+			143					B2R8D0|G5E9N0|O60495|Q8N6K2	Missense_Mutation	SNP	ENST00000301825.3	37	c.428G>A	CCDS2691.1	.	.	.	.	.	.	.	.	.	.	G	33	5.242820	0.95272	0.0	1.16E-4	ENSG00000168032	ENST00000301825;ENST00000456402;ENST00000445129	T;T;T	0.41065	1.01;1.01;1.01	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	T	0.75759	0.3893	H	0.95470	3.675	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.82713	-0.0321	10	0.87932	D	0	-21.1279	17.579	0.87960	0.0:0.0:1.0:0.0	.	143	O75355	ENTP3_HUMAN	H	143	ENSP00000301825:R143H;ENSP00000401565:R143H;ENSP00000404671:R143H	ENSP00000301825:R143H	R	+	2	0	ENTPD3	40428448	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	8.760000	0.91671	2.832000	0.97577	0.655000	0.94253	CGC		0.502	ENTPD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254179.2	NM_001248		16	20	0	0	0	1	0	16	20					A	40453444	G	A	40453444	3	1	435	1	0	0	0	0	1	0	0	0	5140	1087	38	1	442	1	ENTPD3	3	40453444	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	178036	40453444	157568986	1743	22668											
ENTPD3	956	broad.mit.edu	37	chr3	40457492	40457492	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgtatggctacgtatacacGctctacacacacagcttcca	11	10	6	14	2	1	0	0	0	1	0	2	0	2	0	1	1	4	5	1	1	5	6			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:40457492G>A	ENST00000301825.3	+	7	877	c.759G>A	c.(757-759)acG>acA	p.T253T	ENTPD3-AS1_ENST00000439293.1_RNA|ENTPD3_ENST00000445129.1_Silent_p.T253T|ENTPD3-AS1_ENST00000425156.1_RNA|ENTPD3_ENST00000456402.1_Silent_p.T253T|ENTPD3-AS1_ENST00000452768.1_RNA	NM_001248.2	NP_001239.2	O75355	ENTP3_HUMAN	ectonucleoside triphosphate diphosphohydrolase 3	253					nucleoside diphosphate catabolic process (GO:0009134)|nucleoside triphosphate catabolic process (GO:0009143)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|nucleoside-diphosphatase activity (GO:0017110)|nucleoside-triphosphatase activity (GO:0017111)	p.T253T(1)		endometrium(1)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18				KIRC - Kidney renal clear cell carcinoma(284;0.0605)|Kidney(284;0.0758)		ACGTATACACGCTCTACACAC	0.542																																						ENST00000301825.3																			1	Substitution - coding silent(1)	p.T253T(1)	prostate(1)	endometrium(1)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						c.(757-759)acG>acA		ectonucleoside triphosphate diphosphohydrolase 3							102	84	90					3																	40457492		2203	4300	6503	SO:0001819	synonymous_variant	956					integral to membrane	ATP binding|hydrolase activity	g.chr3:40457492G>A	AF039917	CCDS2691.1, CCDS74919.1	3p21.3	2004-02-26			ENSG00000168032	ENSG00000168032			3365	protein-coding gene	gene with protein product		603161		CD39L3		9676430	Standard	XM_005265605		Approved	NTPDase-3, HB6	uc003ckd.4	O75355	OTTHUMG00000131390	ENST00000301825.3:c.759G>A	3.37:g.40457492G>A						ENTPD3_ENST00000445129.1_Silent_p.T253T|ENTPD3_ENST00000456402.1_Silent_p.T253T|ENTPD3-AS1_ENST00000439293.1_RNA|ENTPD3-AS1_ENST00000452768.1_RNA|ENTPD3-AS1_ENST00000425156.1_RNA	p.T253T	NM_001248.2	NP_001239.2	O75355	ENTP3_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0605)|Kidney(284;0.0758)	7	877	+			253					B2R8D0|G5E9N0|O60495|Q8N6K2	Silent	SNP	ENST00000301825.3	37	c.759G>A	CCDS2691.1																																																																																				0.542	ENTPD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254179.2	NM_001248		12	9	0	0	0	1	0	12	9					A	40457492	G	A	40457492	2	1	435	1	0	0	0	0	0	0	0	1	5140	1074	38	1		1	ENTPD3	3	40457492	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	4048	40457492	157564938	1744	22669											
CTNNB1	1499	broad.mit.edu	37	chr3	41267003	41267003	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcataacctttcccatcatcGtgagggcttactggccatct	8	12	8	13	1	2	1	1	1	1	0	4	1	3	1	3	2	2	2	3	2	2	3	rs144087793		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:41267003G>A	ENST00000349496.5	+	5	954	c.674G>A	c.(673-675)cGt>cAt	p.R225H	CTNNB1_ENST00000396183.3_Missense_Mutation_p.R225H|CTNNB1_ENST00000453024.1_Missense_Mutation_p.R218H|CTNNB1_ENST00000396185.3_Missense_Mutation_p.R225H|CTNNB1_ENST00000405570.1_Missense_Mutation_p.R225H	NM_001904.3	NP_001895.1	P35222	CTNB1_HUMAN	catenin (cadherin-associated protein), beta 1, 88kDa	225					adherens junction assembly (GO:0034333)|androgen receptor signaling pathway (GO:0030521)|anterior/posterior axis specification (GO:0009948)|apoptotic process (GO:0006915)|bone resorption (GO:0045453)|branching involved in ureteric bud morphogenesis (GO:0001658)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|canonical Wnt signaling pathway involved in positive regulation of cardiac outflow tract cell proliferation (GO:0061324)|canonical Wnt signaling pathway involved in positive regulation of epithelial to mesenchymal transition (GO:0044334)|cell adhesion (GO:0007155)|cell fate specification (GO:0001708)|cell maturation (GO:0048469)|cell-matrix adhesion (GO:0007160)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to growth factor stimulus (GO:0071363)|cellular response to indole-3-methanol (GO:0071681)|cellular response to mechanical stimulus (GO:0071260)|central nervous system vasculogenesis (GO:0022009)|cytoskeletal anchoring at plasma membrane (GO:0007016)|determination of dorsal/ventral asymmetry (GO:0048262)|dorsal/ventral axis specification (GO:0009950)|ectoderm development (GO:0007398)|embryonic axis specification (GO:0000578)|embryonic digit morphogenesis (GO:0042733)|embryonic foregut morphogenesis (GO:0048617)|embryonic forelimb morphogenesis (GO:0035115)|embryonic heart tube development (GO:0035050)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal limb joint morphogenesis (GO:0036023)|endodermal cell fate commitment (GO:0001711)|endothelial tube morphogenesis (GO:0061154)|epithelial cell differentiation involved in prostate gland development (GO:0060742)|epithelial to mesenchymal transition (GO:0001837)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|fungiform papilla formation (GO:0061198)|gastrulation with mouth forming second (GO:0001702)|genitalia morphogenesis (GO:0035112)|glial cell fate determination (GO:0007403)|hair cell differentiation (GO:0035315)|hair follicle morphogenesis (GO:0031069)|hair follicle placode formation (GO:0060789)|hindbrain development (GO:0030902)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|layer formation in cerebral cortex (GO:0021819)|lens morphogenesis in camera-type eye (GO:0002089)|liver development (GO:0001889)|lung cell differentiation (GO:0060479)|lung induction (GO:0060492)|lung-associated mesenchyme development (GO:0060484)|male genitalia development (GO:0030539)|mesenchymal cell proliferation involved in lung development (GO:0060916)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|midgut development (GO:0007494)|muscle cell differentiation (GO:0042692)|myoblast differentiation (GO:0045445)|negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of heart induction by canonical Wnt signaling pathway (GO:0003136)|negative regulation of neuron death (GO:1901215)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein sumoylation (GO:0033234)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nephron tubule formation (GO:0072079)|neural plate development (GO:0001840)|neuron migration (GO:0001764)|odontogenesis of dentin-containing tooth (GO:0042475)|oocyte development (GO:0048599)|osteoclast differentiation (GO:0030316)|oviduct development (GO:0060066)|pancreas development (GO:0031016)|patterning of blood vessels (GO:0001569)|positive regulation of apoptotic process (GO:0043065)|positive regulation of branching involved in lung morphogenesis (GO:0061047)|positive regulation of determination of dorsal identity (GO:2000017)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of epithelial cell proliferation involved in prostate gland development (GO:0060769)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of fibroblast growth factor receptor signaling pathway (GO:0045743)|positive regulation of heparan sulfate proteoglycan biosynthetic process (GO:0010909)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein heterooligomerization (GO:0051291)|protein localization to cell surface (GO:0034394)|proximal/distal pattern formation (GO:0009954)|regulation of angiogenesis (GO:0045765)|regulation of calcium ion import (GO:0090279)|regulation of centriole-centriole cohesion (GO:0030997)|regulation of centromeric sister chromatid cohesion (GO:0070602)|regulation of fibroblast proliferation (GO:0048145)|regulation of myelination (GO:0031641)|regulation of nephron tubule epithelial cell differentiation (GO:0072182)|regulation of protein localization to cell surface (GO:2000008)|regulation of secondary heart field cardioblast proliferation (GO:0003266)|regulation of smooth muscle cell proliferation (GO:0048660)|regulation of T cell proliferation (GO:0042129)|renal inner medulla development (GO:0072053)|renal outer medulla development (GO:0072054)|renal vesicle formation (GO:0072033)|response to cadmium ion (GO:0046686)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|Schwann cell proliferation (GO:0014010)|single organismal cell-cell adhesion (GO:0016337)|smooth muscle cell differentiation (GO:0051145)|synapse organization (GO:0050808)|synaptic vesicle transport (GO:0048489)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tongue morphogenesis (GO:0043587)|trachea formation (GO:0060440)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	adherens junction (GO:0005912)|apical part of cell (GO:0045177)|basolateral plasma membrane (GO:0016323)|beta-catenin destruction complex (GO:0030877)|beta-catenin-TCF7L2 complex (GO:0070369)|catenin complex (GO:0016342)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cell periphery (GO:0071944)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|membrane (GO:0016020)|microvillus membrane (GO:0031528)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein-DNA complex (GO:0032993)|Scrib-APC-beta-catenin complex (GO:0034750)|synapse (GO:0045202)|tight junction (GO:0005923)|transcription factor complex (GO:0005667)|Z disc (GO:0030018)|zonula adherens (GO:0005915)	alpha-catenin binding (GO:0045294)|androgen receptor binding (GO:0050681)|cadherin binding (GO:0045296)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|estrogen receptor binding (GO:0030331)|I-SMAD binding (GO:0070411)|ion channel binding (GO:0044325)|kinase binding (GO:0019900)|nuclear hormone receptor binding (GO:0035257)|protein C-terminus binding (GO:0008022)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|R-SMAD binding (GO:0070412)|RNA polymerase II activating transcription factor binding (GO:0001102)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|SMAD binding (GO:0046332)|structural molecule activity (GO:0005198)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)		CTNNB1/PLAG1(60)	NS(4)|adrenal_gland(103)|biliary_tract(43)|bone(21)|breast(7)|central_nervous_system(260)|cervix(9)|endometrium(293)|eye(1)|haematopoietic_and_lymphoid_tissue(60)|kidney(202)|large_intestine(269)|liver(1010)|lung(63)|oesophagus(6)|ovary(106)|pancreas(126)|parathyroid(11)|pituitary(111)|pleura(2)|prostate(31)|salivary_gland(13)|skin(103)|small_intestine(17)|soft_tissue(792)|stomach(165)|thyroid(55)|upper_aerodigestive_tract(2)|urinary_tract(8)	3893				KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294)		TCCCATCATCGTGAGGGCTTA	0.453		15	"H, Mis, T"	PLAG1	"colorectal, cvarian,  hepatoblastoma, others, pleomorphic salivary adenoma"				Pilomatrixoma, Familial Clustering of																												Colon(6;3 56 14213 18255)	ENST00000349496.5		15		Dom	yes		3	3p22-p21.3	1499	"H, Mis, T"	"catenin (cadherin-associated protein), beta 1"			"E, M, O"	PLAG1		"colorectal, cvarian,  hepatoblastoma, others, pleomorphic salivary adenoma"	CTNNB1/PLAG1(60)	0				NS(4)|adrenal_gland(103)|biliary_tract(43)|bone(21)|breast(7)|central_nervous_system(260)|cervix(9)|endometrium(293)|eye(1)|haematopoietic_and_lymphoid_tissue(60)|kidney(202)|large_intestine(269)|liver(1010)|lung(63)|oesophagus(6)|ovary(106)|pancreas(126)|parathyroid(11)|pituitary(111)|pleura(2)|prostate(31)|salivary_gland(13)|skin(103)|small_intestine(17)|soft_tissue(792)|stomach(165)|thyroid(55)|upper_aerodigestive_tract(2)|urinary_tract(8)	3893						c.(673-675)cGt>cAt		catenin (cadherin-associated protein), beta 1, 88kDa	Lithium(DB01356)						104	98	100					3																	41267003		2203	4300	6503	SO:0001583	missense	1499	Pilomatrixoma, Familial Clustering of	Familial Cancer Database	Pilomatricoma, Familial Clustering of, Epithelioma Calcificans of Malherbe	adherens junction assembly|androgen receptor signaling pathway|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway involved in negative regulation of apoptosis|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell-cell adhesion|cell-matrix adhesion|cellular component disassembly involved in apoptosis|cellular response to growth factor stimulus|cellular response to indole-3-methanol|central nervous system vasculogenesis|cytoskeletal anchoring at plasma membrane|determination of dorsal/ventral asymmetry|dorsal/ventral axis specification|ectoderm development|embryonic axis specification|embryonic foregut morphogenesis|embryonic leg joint morphogenesis|endodermal cell fate commitment|endothelial tube morphogenesis|epithelial to mesenchymal transition|gastrulation with mouth forming second|glial cell fate determination|hair follicle morphogenesis|hair follicle placode formation|hindbrain development|liver development|lung cell differentiation|lung induction|lung-associated mesenchyme development|male genitalia development|mesenchymal cell proliferation involved in lung development|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of osteoclast differentiation|negative regulation of transcription from RNA polymerase II promoter|nephron tubule formation|odontogenesis of dentine-containing tooth|oocyte development|pancreas development|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of branching involved in lung morphogenesis|positive regulation of epithelial cell proliferation involved in prostate gland development|positive regulation of fibroblast growth factor receptor signaling pathway|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of muscle cell differentiation|positive regulation of osteoblast differentiation|positive regulation of transcription from RNA polymerase II promoter|protein localization at cell surface|proximal/distal pattern formation|regulation of angiogenesis|regulation of calcium ion import|regulation of centriole-centriole cohesion|regulation of centromeric sister chromatid cohesion|regulation of fibroblast proliferation|regulation of nephron tubule epithelial cell differentiation|regulation of protein localization at cell surface|regulation of smooth muscle cell proliferation|regulation of T cell proliferation|renal inner medulla development|renal outer medulla development|renal vesicle formation|response to drug|response to estradiol stimulus|Schwann cell proliferation|smooth muscle cell differentiation|synapse organization|synaptic vesicle transport|T cell differentiation in thymus|thymus development|trachea formation	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin-TCF7L2 complex|catenin complex|cell cortex|cell-substrate adherens junction|centrosome|dendritic shaft|desmosome|fascia adherens|internal side of plasma membrane|lamellipodium|lateral plasma membrane|microvillus membrane|perinuclear region of cytoplasm|protein-DNA complex|synapse|transcription factor complex|Z disc|zonula adherens	alpha-catenin binding|androgen receptor binding|cadherin binding|estrogen receptor binding|I-SMAD binding|ion channel binding|protein binding|protein C-terminus binding|protein kinase binding|protein phosphatase binding|R-SMAD binding|RPTP-like protein binding|signal transducer activity|specific RNA polymerase II transcription factor activity|structural molecule activity|transcription coactivator activity|transcription regulatory region DNA binding	g.chr3:41267003G>A	X87838	CCDS2694.1	3p21	2013-02-15	2002-08-29		ENSG00000168036	ENSG00000168036		"Armadillo repeat containing"	2514	protein-coding gene	gene with protein product		116806	"catenin (cadherin-associated protein), beta 1 (88kD)"	CTNNB		7829088	Standard	NM_001098210		Approved	beta-catenin, armadillo	uc003ckr.2	P35222	OTTHUMG00000131393	ENST00000349496.5:c.674G>A	3.37:g.41267003G>A	ENSP00000344456:p.Arg225His					CTNNB1_ENST00000396185.3_Missense_Mutation_p.R225H|CTNNB1_ENST00000405570.1_Missense_Mutation_p.R225H|CTNNB1_ENST00000453024.1_Missense_Mutation_p.R218H|CTNNB1_ENST00000396183.3_Missense_Mutation_p.R225H	p.R225H	NM_001904.3	NP_001895.1	P35222	CTNB1_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294)	5	954	+			225					A8K1L7|Q8NEW9|Q8NI94|Q9H391	Missense_Mutation	SNP	ENST00000349496.5	37	c.674G>A	CCDS2694.1	.	.	.	.	.	.	.	.	.	.	G	18.71	3.682313	0.68042	.	.	ENSG00000168036	ENST00000405570;ENST00000396183;ENST00000349496;ENST00000453024;ENST00000396185	T;T;T;T;T	0.63417	-0.04;-0.04;-0.04;-0.04;-0.04	5.61	5.61	0.85477	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.75729	0.3889	M	0.73598	2.24	0.80722	D	1	P;D	0.64830	0.732;0.994	B;P	0.55545	0.156;0.778	T	0.76066	-0.3095	10	0.46703	T	0.11	-1.3683	19.6332	0.95719	0.0:0.0:1.0:0.0	.	153;225	B4DSW9;P35222	.;CTNB1_HUMAN	H	225;225;225;218;225	ENSP00000385604:R225H;ENSP00000379486:R225H;ENSP00000344456:R225H;ENSP00000411226:R218H;ENSP00000379488:R225H	ENSP00000344456:R225H	R	+	2	0	CTNNB1	41242007	1.000000	0.71417	0.996000	0.52242	0.858000	0.48976	9.869000	0.99810	2.645000	0.89757	0.591000	0.81541	CGT		0.453	CTNNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254182.2	NM_001098210		13	24	0	0	0	1	0	13	24					A	41267003	G	A	41267003	3	1	435	1	0	0	0	0	1	0	0	0	4016	1145	40	1	688	1	CTNNB1	3	41267003	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	809511	41267003	156755427	1745	22670											
TRAK1	22906	broad.mit.edu	37	chr3	42167092	42167092	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaccgagcaaattgaagagaCgttaaaatacttccgtaagt	17	9	8	7	3	0	2	0	1	0	1	1	4	1	2	2	0	3	3	2	0	7	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:42167092C>T	ENST00000327628.5	+	2	672	c.272C>T	c.(271-273)aCg>aTg	p.T91M	TRAK1_ENST00000487159.1_3'UTR	NM_001042646.2	NP_001036111.1	Q9UPV9	TRAK1_HUMAN	trafficking protein, kinesin binding 1	91	HAP1 N-terminal.				endosome to lysosome transport (GO:0008333)|protein O-linked glycosylation (GO:0006493)|protein targeting (GO:0006605)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|mitochondrion (GO:0005739)|nucleus (GO:0005634)				central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	22						ATTGAAGAGACGTTAAAATAC	0.463																																					GBM(44;195 884 22595 31865 41850)	ENST00000327628.5																			0				central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	22						c.(271-273)aCg>aTg		trafficking protein, kinesin binding 1							122	114	117					3																	42167092		1952	4136	6088	SO:0001583	missense	22906				endosome to lysosome transport|protein O-linked glycosylation|protein targeting|regulation of transcription from RNA polymerase II promoter	early endosome|mitochondrion|nucleus		g.chr3:42167092C>T		CCDS2695.1, CCDS43072.1, CCDS58826.1, CCDS74922.1	3p22.1	2012-03-05			ENSG00000182606	ENSG00000182606			29947	protein-coding gene	gene with protein product	"OGT(O Glc NAc transferase) interacting protein 106 KDa", "O-linked N-acetylglucosamine transferase interacting protein 106", "milton homolog 1 (Drosophila)"	608112				10470851, 12435728, 16380713, 20230862	Standard	NM_014965		Approved	OIP106, KIAA1042, MILT1	uc003cky.4	Q9UPV9	OTTHUMG00000131795	ENST00000327628.5:c.272C>T	3.37:g.42167092C>T	ENSP00000328998:p.Thr91Met					TRAK1_ENST00000487159.1_3'UTR	p.T91M	NM_001042646.2	NP_001036111.1	Q9UPV9	TRAK1_HUMAN			2	672	+			91			HAP1 N-terminal.		E9PDS2|J3KNT7|Q63HR0|Q659B5|Q96B69	Missense_Mutation	SNP	ENST00000327628.5	37	c.272C>T	CCDS43072.1	.	.	.	.	.	.	.	.	.	.	C	23.8	4.455276	0.84209	.	.	ENSG00000182606	ENST00000327628;ENST00000543338	T	0.18810	2.19	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	T	0.47691	0.1459	M	0.67397	2.05	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79784	0.993;0.988	T	0.41016	-0.9532	10	0.87932	D	0	.	18.8873	0.92383	0.0:1.0:0.0:0.0	.	91;91	B7Z347;Q9UPV9	.;TRAK1_HUMAN	M	91	ENSP00000328998:T91M	ENSP00000328998:T91M	T	+	2	0	TRAK1	42142096	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	6.042000	0.70996	2.708000	0.92522	0.655000	0.94253	ACG		0.463	TRAK1-004	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343413.1	NM_014965		6	83	0	0	0	1	0	6	83					T	42167092	C	T	42167092	3	4	435	1	0	0	0	0	1	0	0	0	16446	536	19	1	278	1	TRAK1	3	42167092	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	900089	42167092	155855338	1746	22671											
TRAK1	22906	broad.mit.edu	37	chr3	42264875	42264875	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcgagagccagaccgacgtGtccgtctccaacctcaacct	10	6	9	16	4	2	2	1	0	1	2	4	4	3	2	6	0	4	0	6	0	2	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:42264875G>A	ENST00000327628.5	+	16	2908	c.2508G>A	c.(2506-2508)gtG>gtA	p.V836V	RNU4-78P_ENST00000410940.1_RNA|TRAK1_ENST00000396175.1_Silent_p.V778V|TRAK1_ENST00000487159.1_3'UTR	NM_001042646.2	NP_001036111.1	Q9UPV9	TRAK1_HUMAN	trafficking protein, kinesin binding 1	836					endosome to lysosome transport (GO:0008333)|protein O-linked glycosylation (GO:0006493)|protein targeting (GO:0006605)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|mitochondrion (GO:0005739)|nucleus (GO:0005634)				central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	22						AGACCGACGTGTCCGTCTCCA	0.592																																					GBM(44;195 884 22595 31865 41850)	ENST00000327628.5																			0				central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	22						c.(2506-2508)gtG>gtA		trafficking protein, kinesin binding 1							41	45	44					3																	42264875		2018	4191	6209	SO:0001819	synonymous_variant	22906				endosome to lysosome transport|protein O-linked glycosylation|protein targeting|regulation of transcription from RNA polymerase II promoter	early endosome|mitochondrion|nucleus		g.chr3:42264875G>A		CCDS2695.1, CCDS43072.1, CCDS58826.1, CCDS74922.1	3p22.1	2012-03-05			ENSG00000182606	ENSG00000182606			29947	protein-coding gene	gene with protein product	"OGT(O Glc NAc transferase) interacting protein 106 KDa", "O-linked N-acetylglucosamine transferase interacting protein 106", "milton homolog 1 (Drosophila)"	608112				10470851, 12435728, 16380713, 20230862	Standard	NM_014965		Approved	OIP106, KIAA1042, MILT1	uc003cky.4	Q9UPV9	OTTHUMG00000131795	ENST00000327628.5:c.2508G>A	3.37:g.42264875G>A						TRAK1_ENST00000396175.1_Silent_p.V778V|TRAK1_ENST00000487159.1_3'UTR	p.V836V	NM_001042646.2	NP_001036111.1	Q9UPV9	TRAK1_HUMAN			16	2908	+			836					E9PDS2|J3KNT7|Q63HR0|Q659B5|Q96B69	Silent	SNP	ENST00000327628.5	37	c.2508G>A	CCDS43072.1																																																																																				0.592	TRAK1-004	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343413.1	NM_014965		4	15	0	0	0	1	0	4	15					A	42264875	G	A	42264875	2	1	435	1	0	0	0	0	0	0	0	1	16446	1364	48	3		3	TRAK1	3	42264875	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	97783	42264875	155757555	1747	22672											
NKTR	4820	broad.mit.edu	37	chr3	42679568	42679568	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atatgtcaaaggtagagacaGgtcttcatgtgtgagaaagt	14	11	12	4	0	3	2	2	1	1	2	3	4	3	2	0	2	0	1	0	2	4	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:42679568G>T	ENST00000232978.8	+	13	2560	c.2372G>T	c.(2371-2373)aGg>aTg	p.R791M	RP4-613B23.1_ENST00000434363.1_RNA|RP4-613B23.1_ENST00000438017.1_RNA|RP4-613B23.1_ENST00000445452.1_RNA	NM_005385.3	NP_005376.2	P30414	NKTR_HUMAN	natural killer cell triggering receptor	791	Arg/Ser-rich.				protein folding (GO:0006457)	membrane (GO:0016020)	cyclosporin A binding (GO:0016018)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	41				KIRC - Kidney renal clear cell carcinoma(284;0.24)		GGTAGAGACAGGTCTTCATGT	0.413																																						ENST00000232978.8																			0				breast(3)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	41						c.(2371-2373)aGg>aTg		natural killer-tumor recognition sequence							100	101	101					3																	42679568		2203	4300	6503	SO:0001583	missense	4820				protein folding	membrane	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity	g.chr3:42679568G>T		CCDS2702.1	3p22.1	2014-01-20	2014-01-20		ENSG00000114857	ENSG00000114857			7833	protein-coding gene	gene with protein product	"NK-tumor recognition protein", "natural-killer cells cyclophilin-related protein", "NK-TR protein"	161565	"natural killer-tumor recognition sequence"			8314596, 8144875	Standard	XM_005265173		Approved	p104	uc003clo.3	P30414	OTTHUMG00000133037	ENST00000232978.8:c.2372G>T	3.37:g.42679568G>T	ENSP00000232978:p.Arg791Met					RP4-613B23.1_ENST00000445452.1_RNA|RP4-613B23.1_ENST00000434363.1_RNA|RP4-613B23.1_ENST00000438017.1_RNA	p.R791M	NM_005385.3	NP_005376.2	P30414	NKTR_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.24)	13	2560	+			791			Arg/Ser-rich.			Missense_Mutation	SNP	ENST00000232978.8	37	c.2372G>T	CCDS2702.1	.	.	.	.	.	.	.	.	.	.	G	0.840	-0.742166	0.03088	.	.	ENSG00000114857	ENST00000232978	T	0.12255	2.7	5.78	-0.898	0.10550	.	0.606254	0.16741	N	0.201436	T	0.12390	0.0301	L	0.29908	0.895	0.09310	N	1	P;P	0.42649	0.786;0.681	P;B	0.46339	0.513;0.315	T	0.19289	-1.0310	10	0.39692	T	0.17	-2.4244	10.8643	0.46844	0.5014:0.0:0.4986:0.0	.	491;791	Q6M1B8;P30414	.;NKTR_HUMAN	M	791	ENSP00000232978:R791M	ENSP00000232978:R791M	R	+	2	0	NKTR	42654572	0.000000	0.05858	0.001000	0.08648	0.002000	0.02628	0.615000	0.24329	-0.144000	0.11314	-0.218000	0.12543	AGG		0.413	NKTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256642.2	NM_005385		21	35	1	0	2.21704e-12	1	2.3975e-12	21	35					T	42679568	G	T	42679568	3	4	435	1	0	0	0	0	1	0	0	0	10448	1000	35	5	2418	5	NKTR	3	42679568	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	414693	42679568	155342862	1748	22673											
NKTR	4820	broad.mit.edu	37	chr3	42680699	42680699	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tttgaagcaggatatggcaaCggaacatcctcaagcagagg	14	7	12	8	1	1	2	1	1	0	1	2	4	2	4	1	4	4	3	1	4	5	2	rs571337393		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:42680699C>T	ENST00000232978.8	+	13	3691	c.3503C>T	c.(3502-3504)aCg>aTg	p.T1168M	RP4-613B23.1_ENST00000434363.1_RNA|RP4-613B23.1_ENST00000438017.1_RNA|RP4-613B23.1_ENST00000445452.1_RNA	NM_005385.3	NP_005376.2	P30414	NKTR_HUMAN	natural killer cell triggering receptor	1168					protein folding (GO:0006457)	membrane (GO:0016020)	cyclosporin A binding (GO:0016018)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	41				KIRC - Kidney renal clear cell carcinoma(284;0.24)		GATATGGCAACGGAACATCCT	0.473																																						ENST00000232978.8																			0				breast(3)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	41						c.(3502-3504)aCg>aTg		natural killer-tumor recognition sequence							95	86	89					3																	42680699		2203	4300	6503	SO:0001583	missense	4820				protein folding	membrane	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity	g.chr3:42680699C>T		CCDS2702.1	3p22.1	2014-01-20	2014-01-20		ENSG00000114857	ENSG00000114857			7833	protein-coding gene	gene with protein product	"NK-tumor recognition protein", "natural-killer cells cyclophilin-related protein", "NK-TR protein"	161565	"natural killer-tumor recognition sequence"			8314596, 8144875	Standard	XM_005265173		Approved	p104	uc003clo.3	P30414	OTTHUMG00000133037	ENST00000232978.8:c.3503C>T	3.37:g.42680699C>T	ENSP00000232978:p.Thr1168Met					RP4-613B23.1_ENST00000445452.1_RNA|RP4-613B23.1_ENST00000434363.1_RNA|RP4-613B23.1_ENST00000438017.1_RNA	p.T1168M	NM_005385.3	NP_005376.2	P30414	NKTR_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.24)	13	3691	+			1168						Missense_Mutation	SNP	ENST00000232978.8	37	c.3503C>T	CCDS2702.1	.	.	.	.	.	.	.	.	.	.	C	10.46	1.355882	0.24598	.	.	ENSG00000114857	ENST00000232978	D	0.81821	-1.54	5.05	-2.46	0.06461	.	1.642650	0.03210	N	0.176066	T	0.62696	0.2449	N	0.25647	0.755	0.09310	N	1	B;B	0.31893	0.345;0.0	B;B	0.19391	0.025;0.001	T	0.51379	-0.8713	10	0.44086	T	0.13	2.3764	0.8061	0.01084	0.1668:0.3197:0.2255:0.288	.	868;1168	Q6M1B8;P30414	.;NKTR_HUMAN	M	1168	ENSP00000232978:T1168M	ENSP00000232978:T1168M	T	+	2	0	NKTR	42655703	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-1.120000	0.03273	-0.128000	0.11641	0.557000	0.71058	ACG		0.473	NKTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256642.2	NM_005385		14	14	0	0	0	1	0	14	14					T	42680699	C	T	42680699	3	4	435	1	0	0	0	0	1	0	0	0	10448	536	19	1	3549	1	NKTR	3	42680699	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	1131	42680699	155341731	1749	22674											
HIGD1A	25994	broad.mit.edu	37	chr3	42827562	42827562	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaagccttgggctgccacacGcatgtggatcagatgaatgg	11	8	13	9	1	1	2	1	1	0	1	1	3	1	3	2	3	2	2	2	3	2	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:42827562G>A	ENST00000321331.7	-	3	307	c.190C>T	c.(190-192)Cgt>Tgt	p.R64C	HIGD1A_ENST00000470543.1_5'UTR|HIGD1A_ENST00000418900.2_Missense_Mutation_p.R64C|HIGD1A_ENST00000452906.2_Missense_Mutation_p.R78C|HIGD1A_ENST00000430190.1_Missense_Mutation_p.R64C	NM_001099669.1|NM_014056.3	NP_001093139.1|NP_054775.2	Q9Y241	HIG1A_HUMAN	HIG1 hypoxia inducible domain family, member 1A	64	HIG1. {ECO:0000255|PROSITE- ProRule:PRU00836}.				cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|negative regulation of apoptotic process (GO:0043066)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|oxidation-reduction process (GO:0055114)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|protein complex (GO:0043234)|respiratory chain (GO:0070469)				lung(1)	1				KIRC - Kidney renal clear cell carcinoma(284;0.217)		GCTGCCACACGCATGTGGATC	0.378																																						ENST00000321331.7																			0				lung(1)	1						c.(190-192)Cgt>Tgt		HIG1 hypoxia inducible domain family, member 1A							80	72	75					3																	42827562		1839	4093	5932	SO:0001583	missense	25994				response to stress	integral to membrane|protein complex	protein binding	g.chr3:42827562G>A	BC009583	CCDS43073.1, CCDS46806.1	3p22.1	2014-02-12	2009-03-17		ENSG00000181061	ENSG00000181061			29527	protein-coding gene	gene with protein product	"hypoxia inducible gene 1"		"HIG1 domain family, member 1A"			11042152, 11230166	Standard	NM_001099668		Approved	HIG1, DKFZP564K247	uc010hid.3	Q9Y241	OTTHUMG00000156277	ENST00000321331.7:c.190C>T	3.37:g.42827562G>A	ENSP00000319393:p.Arg64Cys					HIGD1A_ENST00000430190.1_Missense_Mutation_p.R64C|HIGD1A_ENST00000418900.2_Missense_Mutation_p.R64C|HIGD1A_ENST00000470543.1_5'UTR|HIGD1A_ENST00000452906.2_Missense_Mutation_p.R78C	p.R64C	NM_001099669.1|NM_014056.3	NP_001093139.1|NP_054775.2	Q9Y241	HIG1A_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.217)	3	307	-			64			HIG1.		Q9UFZ2	Missense_Mutation	SNP	ENST00000321331.7	37	c.190C>T	CCDS43073.1	.	.	.	.	.	.	.	.	.	.	G	25.7	4.667500	0.88348	.	.	ENSG00000181061	ENST00000321331;ENST00000418900;ENST00000430190;ENST00000452906	T;T;T	0.63744	-0.06;-0.06;-0.06	4.73	4.73	0.59995	Hypoxia induced protein, domain (2);	0.091701	0.85682	D	0.000000	T	0.63343	0.2503	.	.	.	0.80722	D	1	P;P	0.49559	0.925;0.892	B;P	0.44990	0.427;0.466	T	0.69702	-0.5074	9	0.72032	D	0.01	0.0933	15.5624	0.76258	0.0:0.0:1.0:0.0	.	78;64	Q9Y241-2;Q9Y241	.;HIG1A_HUMAN	C	64;64;64;78	ENSP00000319393:R64C;ENSP00000402160:R64C;ENSP00000398064:R78C	ENSP00000319393:R64C	R	-	1	0	HIGD1A	42802566	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	9.039000	0.93777	2.611000	0.88343	0.591000	0.81541	CGT		0.378	HIGD1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343686.1	NM_014056		25	37	0	0	0	1	0	25	37					A	42827562	G	A	42827562	3	1	435	1	0	0	0	0	1	0	0	0	7106	1087	38	1	99	1	HIGD1A	3	42827562	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	146863	42827562	155194868	1750	22675											
CCBP2	1238	broad.mit.edu	37	chr3	42906501	42906501	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ctccttgctaccatagtatgGgctgtgtccctggccgtctc	4	13	10	14	1	1	0	0	0	1	0	4	0	3	0	4	2	2	3	4	2	3	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:42906501G>A	ENST00000422265.1	+	3	682	c.507G>A	c.(505-507)tgG>tgA	p.W169*	KRBOX1_ENST00000426937.1_Intron|ACKR2_ENST00000442925.1_Nonsense_Mutation_p.W169*|RP11-141M3.5_ENST00000471537.1_RNA|ACKR2_ENST00000273145.2_Nonsense_Mutation_p.W169*|CYP8B1_ENST00000437102.1_Intron	NM_001296.4	NP_001287.2	O00590	ACKR2_HUMAN	atypical chemokine receptor 2	169					chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|multicellular organismal development (GO:0007275)|neutrophil activation (GO:0042119)|receptor-mediated endocytosis (GO:0006898)	actin filament (GO:0005884)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	C-C chemokine receptor activity (GO:0016493)|C-X-C chemokine receptor activity (GO:0016494)|chemokine receptor activity (GO:0004950)|scavenger receptor activity (GO:0005044)										CCATAGTATGGGCTGTGTCCC	0.567																																						ENST00000422265.1																			0											c.(505-507)tgG>tgA		atypical chemokine receptor 2							73	74	74					3																	42906501		2203	4300	6503	SO:0001587	stop_gained	1238							g.chr3:42906501G>A	U94888	CCDS2706.1	3p21.3	2013-07-17	2013-07-16	2013-07-16	ENSG00000144648	ENSG00000144648		"GPCR / Class A : Chemokine receptors : Atypical"	1565	protein-coding gene	gene with protein product		602648	"chemokine binding protein 2"	CMKBR9, CCBP2		9364936, 9405404, 16148	Standard	NM_001296		Approved	CCR10, D6, CCR9	uc003cme.3	O00590	OTTHUMG00000133040	ENST00000422265.1:c.507G>A	3.37:g.42906501G>A	ENSP00000416996:p.Trp169*					KRBOX1_ENST00000426937.1_Intron|ACKR2_ENST00000442925.1_Nonsense_Mutation_p.W169*|CYP8B1_ENST00000437102.1_Intron|ACKR2_ENST00000273145.2_Nonsense_Mutation_p.W169*|ACKR2_ENST00000471537.1_Intron	p.W169*	NM_001296.4	NP_001287.2					3	682	+								B2R8Y8|O00537|Q53YA1|Q86UN9|Q96A02	Nonsense_Mutation	SNP	ENST00000422265.1	37	c.507G>A	CCDS2706.1	.	.	.	.	.	.	.	.	.	.	G	10.99	1.507105	0.27036	.	.	ENSG00000144648	ENST00000442925;ENST00000422265;ENST00000273145	.	.	.	4.49	4.49	0.54785	.	0.000000	0.45126	D	0.000382	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.9159	0.79517	0.0:0.0:1.0:0.0	.	.	.	.	X	169	.	.	W	+	3	0	CCBP2	42881505	1.000000	0.71417	0.853000	0.33588	0.022000	0.10575	9.257000	0.95545	2.335000	0.79485	0.563000	0.77884	TGG		0.567	ACKR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256645.2	NM_001296		7	80	0	0	0	1	0	7	80					A	42906501	G	A	42906501	4	1	435	1	0	0	0	0	0	1	0	0	2734	1241	43	3	509	3	CCBP2	3	42906501	Nonsense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	78939	42906501	155115929	1751	22676											
CCBP2	1238	broad.mit.edu	37	chr3	42906816	42906816	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctcaccttgtttctgcatacGctgttggacctgcaagtatt	7	15	8	11	1	2	0	1	0	1	0	2	1	2	1	2	1	3	6	2	1	3	6			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:42906816G>A	ENST00000422265.1	+	3	997	c.822G>A	c.(820-822)acG>acA	p.T274T	KRBOX1_ENST00000426937.1_Intron|ACKR2_ENST00000442925.1_Silent_p.T274T|RP11-141M3.5_ENST00000471537.1_RNA|ACKR2_ENST00000273145.2_Silent_p.T274T|CYP8B1_ENST00000437102.1_Intron	NM_001296.4	NP_001287.2	O00590	ACKR2_HUMAN	atypical chemokine receptor 2	274					chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|multicellular organismal development (GO:0007275)|neutrophil activation (GO:0042119)|receptor-mediated endocytosis (GO:0006898)	actin filament (GO:0005884)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	C-C chemokine receptor activity (GO:0016493)|C-X-C chemokine receptor activity (GO:0016494)|chemokine receptor activity (GO:0004950)|scavenger receptor activity (GO:0005044)										TTCTGCATACGCTGTTGGACC	0.537																																						ENST00000422265.1																			0											c.(820-822)acG>acA		atypical chemokine receptor 2							230	189	203					3																	42906816		2203	4300	6503	SO:0001819	synonymous_variant	1238							g.chr3:42906816G>A	U94888	CCDS2706.1	3p21.3	2013-07-17	2013-07-16	2013-07-16	ENSG00000144648	ENSG00000144648		"GPCR / Class A : Chemokine receptors : Atypical"	1565	protein-coding gene	gene with protein product		602648	"chemokine binding protein 2"	CMKBR9, CCBP2		9364936, 9405404, 16148	Standard	NM_001296		Approved	CCR10, D6, CCR9	uc003cme.3	O00590	OTTHUMG00000133040	ENST00000422265.1:c.822G>A	3.37:g.42906816G>A						KRBOX1_ENST00000426937.1_Intron|ACKR2_ENST00000442925.1_Silent_p.T274T|CYP8B1_ENST00000437102.1_Intron|ACKR2_ENST00000273145.2_Silent_p.T274T|ACKR2_ENST00000471537.1_Intron	p.T274T	NM_001296.4	NP_001287.2					3	997	+								B2R8Y8|O00537|Q53YA1|Q86UN9|Q96A02	Silent	SNP	ENST00000422265.1	37	c.822G>A	CCDS2706.1																																																																																				0.537	ACKR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256645.2	NM_001296		50	64	0	0	0	1	0	50	64					A	42906816	G	A	42906816	2	1	435	1	0	0	0	0	0	0	0	1	2734	1074	38	1		1	CCBP2	3	42906816	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	315	42906816	155115614	1752	22677											
C3orf39	84892	broad.mit.edu	37	chr3	43121556	43121556	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cgccgtatggtttgaatgagGgacgggatgtccaccttggt	7	11	15	8	3	0	2	0	2	0	0	1	4	1	4	3	4	0	2	3	4	2	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:43121556G>T	ENST00000344697.2	-	2	1713	c.1368C>A	c.(1366-1368)tcC>tcA	p.S456S	POMGNT2_ENST00000441964.1_Silent_p.S456S	NM_032806.5	NP_116195.2	Q8NAT1	PMGT2_HUMAN	protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-)	456					protein O-linked glycosylation (GO:0006493)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	acetylglucosaminyltransferase activity (GO:0008375)|protein O-GlcNAc transferase activity (GO:0097363)										TTTGAATGAGGGACGGGATGT	0.617																																						ENST00000344697.2																			0											c.(1366-1368)tcC>tcA									41	40	41					3																	43121556		2203	4300	6503	SO:0001819	synonymous_variant	0							g.chr3:43121556G>T	AK092147	CCDS2709.1	3p22.1	2014-07-15	2013-08-22	2013-08-22	ENSG00000144647	ENSG00000144647			25902	protein-coding gene	gene with protein product		614828	"chromosome 3 open reading frame 39", "glycosyltransferase-like domain containing 2"	C3orf39, GTDC2		12477932	Standard	NM_032806		Approved	FLJ14566, AGO61	uc003cmr.2	Q8NAT1	OTTHUMG00000133038	ENST00000344697.2:c.1368C>A	3.37:g.43121556G>T						GTDC2_ENST00000441964.1_Silent_p.S456S	p.S456S	NM_032806.4	NP_116195.2					2	1713	-								B3KWC3|Q96SY3	Silent	SNP	ENST00000344697.2	37	c.1368C>A	CCDS2709.1																																																																																				0.617	POMGNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256643.1	NM_032806		10	5	1	0	2.80697e-09	1	2.97546e-09	10	5					T	43121556	G	T	43121556	2	4	435	1	0	0	0	0	0	0	0	1	2229	1219	43	5		5	C3orf39	3	43121556	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	214740	43121556	154900874	1753	22678											
C3orf39	84892	broad.mit.edu	37	chr3	43121705	43121705	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcccccctgatcccagggccGctcagggtgtgtgactgtgt	4	9	14	14	1	1	2	1	2	0	0	2	2	2	2	5	2	0	1	5	2	0	0	rs138480528	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:43121705G>A	ENST00000344697.2	-	2	1564	c.1219C>T	c.(1219-1221)Cgg>Tgg	p.R407W	POMGNT2_ENST00000441964.1_Missense_Mutation_p.R407W	NM_032806.5	NP_116195.2	Q8NAT1	PMGT2_HUMAN	protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-)	407					protein O-linked glycosylation (GO:0006493)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	acetylglucosaminyltransferase activity (GO:0008375)|protein O-GlcNAc transferase activity (GO:0097363)										TCCCAGGGCCGCTCAGGGTGT	0.612													G|||	3	0.000599042	0.0023	0	5008	,	,		22213	0		0	False		,,,				2504	0					ENST00000344697.2																			0											c.(1219-1221)Cgg>Tgg				G	TRP/ARG	7,4399	14.3+/-33.2	0,7,2196	55	51	53		1219	5.5	1	3	dbSNP_134	53	1,8599	1.2+/-3.3	0,1,4299	yes	missense	C3orf39	NM_032806.4	101	0,8,6495	AA,AG,GG		0.0116,0.1589,0.0615	probably-damaging	407/581	43121705	8,12998	2203	4300	6503	SO:0001583	missense	0							g.chr3:43121705G>A	AK092147	CCDS2709.1	3p22.1	2014-07-15	2013-08-22	2013-08-22	ENSG00000144647	ENSG00000144647			25902	protein-coding gene	gene with protein product		614828	"chromosome 3 open reading frame 39", "glycosyltransferase-like domain containing 2"	C3orf39, GTDC2		12477932	Standard	NM_032806		Approved	FLJ14566, AGO61	uc003cmr.2	Q8NAT1	OTTHUMG00000133038	ENST00000344697.2:c.1219C>T	3.37:g.43121705G>A	ENSP00000344125:p.Arg407Trp					GTDC2_ENST00000441964.1_Missense_Mutation_p.R407W	p.R407W	NM_032806.4	NP_116195.2					2	1564	-								B3KWC3|Q96SY3	Missense_Mutation	SNP	ENST00000344697.2	37	c.1219C>T	CCDS2709.1	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	G	17.52	3.409602	0.62399	0.001589	1.16E-4	ENSG00000144647	ENST00000441964;ENST00000344697	T;T	0.78924	-1.22;-1.22	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	D	0.88262	0.6389	M	0.83223	2.63	0.58432	D	0.999999	D	0.89917	1.0	D	0.87578	0.998	D	0.88947	0.3384	10	0.56958	D	0.05	-12.3659	14.0504	0.64732	0.0:0.0:0.8395:0.1605	.	407	Q8NAT1	AGO61_HUMAN	W	407	ENSP00000408992:R407W;ENSP00000344125:R407W	ENSP00000344125:R407W	R	-	1	2	C3orf39	43096709	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.595000	0.46197	2.614000	0.88457	0.650000	0.86243	CGG		0.612	POMGNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256643.1	NM_032806		5	23	0	0	0	1	0	5	23					A	43121705	G	A	43121705	3	1	435	1	0	0	0	0	1	0	0	0	2229	1086	38	1	527	1	C3orf39	3	43121705	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	149	43121705	154900725	1754	22679											
C3orf39	84892	broad.mit.edu	37	chr3	43122910	43122910	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaggagggcgttgaacaccGccgagaggtgcatcctaatg	10	6	14	11	3	0	2	0	1	0	1	1	4	1	3	4	3	2	2	4	3	2	2	rs554958082		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:43122910G>A	ENST00000344697.2	-	2	359	c.14C>T	c.(13-15)gCg>gTg	p.A5V	POMGNT2_ENST00000441964.1_Missense_Mutation_p.A5V	NM_032806.5	NP_116195.2	Q8NAT1	PMGT2_HUMAN	protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-)	5					protein O-linked glycosylation (GO:0006493)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	acetylglucosaminyltransferase activity (GO:0008375)|protein O-GlcNAc transferase activity (GO:0097363)										GTTGAACACCGCCGAGAGGTG	0.637																																						ENST00000344697.2																			0											c.(13-15)gCg>gTg									13	12	13					3																	43122910		2183	4263	6446	SO:0001583	missense	0							g.chr3:43122910G>A	AK092147	CCDS2709.1	3p22.1	2014-07-15	2013-08-22	2013-08-22	ENSG00000144647	ENSG00000144647			25902	protein-coding gene	gene with protein product		614828	"chromosome 3 open reading frame 39", "glycosyltransferase-like domain containing 2"	C3orf39, GTDC2		12477932	Standard	NM_032806		Approved	FLJ14566, AGO61	uc003cmr.2	Q8NAT1	OTTHUMG00000133038	ENST00000344697.2:c.14C>T	3.37:g.43122910G>A	ENSP00000344125:p.Ala5Val					GTDC2_ENST00000441964.1_Missense_Mutation_p.A5V	p.A5V	NM_032806.4	NP_116195.2					2	359	-								B3KWC3|Q96SY3	Missense_Mutation	SNP	ENST00000344697.2	37	c.14C>T	CCDS2709.1	.	.	.	.	.	.	.	.	.	.	G	12.76	2.033544	0.35893	.	.	ENSG00000144647	ENST00000441964;ENST00000344697	T;T	0.80033	-1.33;-1.33	5.75	5.75	0.90469	.	0.107189	0.64402	D	0.000005	T	0.77525	0.4143	L	0.60455	1.87	0.52099	D	0.999941	P	0.46912	0.886	B	0.35607	0.206	T	0.81929	-0.0708	10	0.87932	D	0	-18.5083	18.9302	0.92561	0.0:0.0:1.0:0.0	.	5	Q8NAT1	AGO61_HUMAN	V	5	ENSP00000408992:A5V;ENSP00000344125:A5V	ENSP00000344125:A5V	A	-	2	0	C3orf39	43097914	1.000000	0.71417	0.107000	0.21349	0.233000	0.25261	9.331000	0.96430	2.714000	0.92807	0.561000	0.74099	GCG		0.637	POMGNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256643.1	NM_032806		6	5	0	0	0	1	0	6	5					A	43122910	G	A	43122910	3	1	435	1	0	0	0	0	1	0	0	0	2229	1087	38	1	1732	1	C3orf39	3	43122910	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	1205	43122910	154899520	1755	22680											
C3orf23	285343	broad.mit.edu	37	chr3	44448965	44448965	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ttgaaaatgaattgatacagGcatcaacaaagaaattttct	18	12	6	5	0	2	4	1	3	1	1	2	4	2	4	0	1	2	1	0	1	7	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:44448965G>A	ENST00000342649.4	+	11	1709	c.1282G>A	c.(1282-1284)Gca>Aca	p.A428T	TCAIM_ENST00000417237.1_Missense_Mutation_p.A428T	NM_001282913.1|NM_173826.3	NP_001269842.1|NP_776187.2	Q8N3R3	TCAIM_HUMAN	T cell activation inhibitor, mitochondrial	428						mitochondrion (GO:0005739)											ATTGATACAGGCATCAACAAA	0.284																																						ENST00000342649.4																			0											c.(1282-1284)Gca>Aca		T cell activation inhibitor, mitochondrial							43	45	45					3																	44448965		2198	4300	6498	SO:0001583	missense	285343							g.chr3:44448965G>A		CCDS2712.1, CCDS43076.1	3p21.33-p21.32	2012-08-22	2012-08-22	2012-08-22	ENSG00000179152	ENSG00000179152			25241	protein-coding gene	gene with protein product	"tolerance associated gene-1"		"chromosome 3 open reading frame 23"	C3orf23		12477932	Standard	NM_001029840		Approved	DKFZp313N0621, TOAG-1	uc003cnd.4	Q8N3R3	OTTHUMG00000133049	ENST00000342649.4:c.1282G>A	3.37:g.44448965G>A	ENSP00000341539:p.Ala428Thr					TCAIM_ENST00000417237.1_Missense_Mutation_p.A428T	p.A428T	NM_173826.3	NP_776187.2					11	1709	+								A8K9P1|Q0P5T9|Q495R1|Q495R3|Q4G0M4|Q6GMU8	Missense_Mutation	SNP	ENST00000342649.4	37	c.1282G>A	CCDS2712.1	.	.	.	.	.	.	.	.	.	.	G	11.79	1.742791	0.30865	.	.	ENSG00000179152	ENST00000417237;ENST00000342649	T;T	0.42900	0.96;0.96	6.07	4.27	0.50696	.	0.300970	0.35805	N	0.002977	T	0.20740	0.0499	N	0.08118	0	0.09310	N	0.999992	B	0.06786	0.001	B	0.10450	0.005	T	0.16070	-1.0415	10	0.13470	T	0.59	.	10.3766	0.44085	0.2111:0.0:0.7889:0.0	.	428	Q8N3R3	CC023_HUMAN	T	428	ENSP00000402581:A428T;ENSP00000341539:A428T	ENSP00000341539:A428T	A	+	1	0	C3orf23	44423969	0.991000	0.36638	0.991000	0.47740	0.998000	0.95712	2.363000	0.44178	1.570000	0.49709	0.655000	0.94253	GCA		0.284	TCAIM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256655.2	NM_173826		26	35	0	0	0	1	0	26	35					A	44448965	G	A	44448965	3	1	435	1	0	0	0	0	1	0	0	0	2216	1203	42	3	1372	3	C3orf23	3	44448965	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	1326055	44448965	153573465	1756	22681											
ZNF660	285349	broad.mit.edu	37	chr3	44636460	44636460	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggaaggcttttacttctaatCgaaaccttgttgatcatcag	11	14	8	8	1	3	1	2	1	1	0	4	3	3	2	1	2	2	2	1	2	4	6			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:44636460C>T	ENST00000322734.2	+	3	1108	c.775C>T	c.(775-777)Cga>Tga	p.R259*	RP11-944L7.4_ENST00000457331.1_RNA	NM_173658.2	NP_775929.2	Q6AZW8	ZN660_HUMAN	zinc finger protein 660	259					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			large_intestine(2)|lung(4)	6				KIRC - Kidney renal clear cell carcinoma(197;0.0468)|Kidney(197;0.0585)		TACTTCTAATCGAAACCTTGT	0.373																																						ENST00000322734.2																			0				large_intestine(2)|lung(4)	6						c.(775-777)Cga>Tga		zinc finger protein 660							59	60	60					3																	44636460		2203	4300	6503	SO:0001587	stop_gained	285349				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr3:44636460C>T	AK094189	CCDS2716.1	3p21.32	2013-01-08			ENSG00000144792	ENSG00000144792		"Zinc fingers, C2H2-type"	26720	protein-coding gene	gene with protein product							Standard	NM_173658		Approved	FLJ36870	uc003cnl.1	Q6AZW8	OTTHUMG00000133097	ENST00000322734.2:c.775C>T	3.37:g.44636460C>T	ENSP00000324605:p.Arg259*					RP11-944L7.4_ENST00000457331.1_RNA	p.R259*	NM_173658.2	NP_775929.2	Q6AZW8	ZN660_HUMAN		KIRC - Kidney renal clear cell carcinoma(197;0.0468)|Kidney(197;0.0585)	3	1108	+			259					Q7Z331|Q8N9M8	Nonsense_Mutation	SNP	ENST00000322734.2	37	c.775C>T	CCDS2716.1	.	.	.	.	.	.	.	.	.	.	C	35	5.512608	0.96402	.	.	ENSG00000144792	ENST00000322734	.	.	.	4.21	4.21	0.49690	.	.	.	.	.	.	.	.	.	.	.	0.28108	N	0.931129	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.1249	0.30992	0.0:0.8902:0.0:0.1098	.	.	.	.	X	259	.	.	R	+	1	2	ZNF660	44611464	0.000000	0.05858	1.000000	0.80357	0.996000	0.88848	0.031000	0.13710	2.330000	0.79161	0.650000	0.86243	CGA		0.373	ZNF660-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256756.4	NM_173658		31	46	0	0	0	1	0	31	46					T	44636460	C	T	44636460	4	4	435	1	0	0	0	0	0	1	0	0	18067	876	31	2	777	2	ZNF660	3	44636460	Nonsense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	187495	44636460	153385970	1757	22682											
ZNF501	115560	broad.mit.edu	37	chr3	44776220	44776220	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atctgagaattcatactggaGagaaaccctataaatgcaat	17	10	7	7	0	2	2	1	1	1	2	2	5	2	3	1	1	3	1	1	1	7	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:44776220G>A	ENST00000396048.2	+	3	744	c.307G>A	c.(307-309)Gag>Aag	p.E103K	KIAA1143_ENST00000484437.1_5'Flank	NM_001258280.1|NM_145044.3	NP_001245209.1|NP_659481.2	Q96CX3	ZN501_HUMAN	zinc finger protein 501	103					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(2)|large_intestine(4)|lung(3)|prostate(1)	11				BRCA - Breast invasive adenocarcinoma(193;0.00843)|KIRC - Kidney renal clear cell carcinoma(197;0.0463)|Kidney(197;0.0579)		TCATACTGGAGAGAAACCCTA	0.368																																						ENST00000396048.2																			0				breast(1)|endometrium(2)|large_intestine(4)|lung(3)|prostate(1)	11						c.(307-309)Gag>Aag		zinc finger protein 501							71	83	79					3																	44776220		2202	4300	6502	SO:0001583	missense	115560				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr3:44776220G>A	BC013762	CCDS2720.2	3p21.32	2013-01-08			ENSG00000186446	ENSG00000186446		"Zinc fingers, C2H2-type"	23717	protein-coding gene	gene with protein product			"zinc finger protein 52"	ZNF52		1505991	Standard	NM_145044		Approved	MGC21738	uc003cnu.2	Q96CX3	OTTHUMG00000133048	ENST00000396048.2:c.307G>A	3.37:g.44776220G>A	ENSP00000379363:p.Glu103Lys						p.E103K	NM_001258280.1|NM_145044.3	NP_001245209.1|NP_659481.2	Q96CX3	ZN501_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00843)|KIRC - Kidney renal clear cell carcinoma(197;0.0463)|Kidney(197;0.0579)	3	744	+			103					B4DLY7|Q96NU9	Missense_Mutation	SNP	ENST00000396048.2	37	c.307G>A	CCDS2720.2	.	.	.	.	.	.	.	.	.	.	G	24.6	4.544166	0.86022	.	.	ENSG00000186446	ENST00000396048;ENST00000332489	T	0.24350	1.86	3.07	3.07	0.35406	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.36276	0.0961	N	0.25957	0.775	0.40845	D	0.983709	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	T	0.32052	-0.9921	9	0.59425	D	0.04	.	13.3907	0.60823	0.0:0.0:1.0:0.0	.	103;103	Q96CX3-2;Q96CX3	.;ZN501_HUMAN	K	103	ENSP00000379363:E103K	ENSP00000330388:E103K	E	+	1	0	ZNF501	44751224	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	4.454000	0.60068	1.717000	0.51406	0.563000	0.77884	GAG		0.368	ZNF501-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256654.4	NM_145044		5	101	0	0	0	1	0	5	101					A	44776220	G	A	44776220	3	1	435	1	0	0	0	0	1	0	0	0	17946	943	33	3	309	3	ZNF501	3	44776220	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	139760	44776220	153246210	1758	22683											
KIF15	56992	broad.mit.edu	37	chr3	44893290	44893290	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcctacagcctagaagaagTccaaagtgccctttacaaca	14	9	6	12	0	0	2	0	0	0	2	2	2	2	2	4	0	5	0	4	0	7	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:44893290T>C	ENST00000326047.4	+	33	3967	c.3818T>C	c.(3817-3819)gTc>gCc	p.V1273A	KIF15_ENST00000425755.1_Missense_Mutation_p.V908A	NM_020242.2	NP_064627.1	Q9NS87	KIF15_HUMAN	kinesin family member 15	1273					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cell proliferation (GO:0008283)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic nuclear division (GO:0007067)	centrosome (GO:0005813)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)|plus-end kinesin complex (GO:0005873)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|liver(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(5)	36				BRCA - Breast invasive adenocarcinoma(193;0.0099)|KIRC - Kidney renal clear cell carcinoma(197;0.0564)|Kidney(197;0.0707)		CTAGAAGAAGTCCAAAGTGCC	0.383																																						ENST00000326047.4																			0				breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|liver(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(5)	36						c.(3817-3819)gTc>gCc		kinesin family member 15							138	148	145					3																	44893290		2203	4300	6503	SO:0001583	missense	56992				blood coagulation|cell proliferation|microtubule-based movement|mitosis	centrosome|cytosol|microtubule|plus-end kinesin complex|spindle	ATP binding|DNA binding|microtubule motor activity	g.chr3:44893290T>C	AB035898	CCDS33744.1	3p21.31	2008-03-03	2005-03-15	2005-03-17	ENSG00000163808	ENSG00000163808		"Kinesins"	17273	protein-coding gene	gene with protein product			"kinesin-like 7"	KNSL7		10878014	Standard	NM_020242		Approved	HKLP2, NY-BR-62	uc003cnx.4	Q9NS87	OTTHUMG00000156307	ENST00000326047.4:c.3818T>C	3.37:g.44893290T>C	ENSP00000324020:p.Val1273Ala					KIF15_ENST00000425755.1_Missense_Mutation_p.V908A	p.V1273A	NM_020242.2	NP_064627.1	Q9NS87	KIF15_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.0099)|KIRC - Kidney renal clear cell carcinoma(197;0.0564)|Kidney(197;0.0707)	33	3967	+			1273					Q17RV9|Q69YL6|Q96JX7|Q9H280	Missense_Mutation	SNP	ENST00000326047.4	37	c.3818T>C	CCDS33744.1	.	.	.	.	.	.	.	.	.	.	T	11.81	1.748256	0.30955	.	.	ENSG00000163808	ENST00000326047;ENST00000425755	T;T	0.28666	1.6;1.6	5.72	4.58	0.56647	.	0.299366	0.23710	N	0.045329	T	0.17831	0.0428	L	0.29908	0.895	0.32784	N	0.502042	B	0.06786	0.001	B	0.04013	0.001	T	0.14980	-1.0453	10	0.19147	T	0.46	.	4.6562	0.12618	0.0:0.2662:0.0:0.7338	.	1273	Q9NS87	KIF15_HUMAN	A	1273;908	ENSP00000324020:V1273A;ENSP00000389982:V908A	ENSP00000324020:V1273A	V	+	2	0	KIF15	44868294	1.000000	0.71417	0.642000	0.29436	0.586000	0.36452	3.252000	0.51461	2.185000	0.69588	0.459000	0.35465	GTC		0.383	KIF15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343831.2			46	58	0	0	0	1	0	46	58					C	44893290	T	C	44893290	3	2	435	1	0	0	0	0	1	0	0	0	8277	1667	58	4	3948	4	KIF15	3	44893290	Missense_Mutation	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	117070	44893290	153129140	1759	22684											
LIMD1	8994	broad.mit.edu	37	chr3	45636598	45636598	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tctgcccagggggagtagagGccctgtcaatggagggggcc	7	6	18	10	0	2	1	1	0	1	1	2	3	2	3	3	6	1	1	3	6	2	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:45636598G>A	ENST00000273317.4	+	1	248	c.227G>A	c.(226-228)gGc>gAc	p.G76D	LIMD1_ENST00000440097.1_Missense_Mutation_p.G76D|AC099539.1_ENST00000516118.1_RNA|LIMD1_ENST00000465039.1_Intron	NM_014240.2	NP_055055.1	Q9UGP4	LIMD1_HUMAN	LIM domains containing 1	76	Mediates nuclear export.				cell migration (GO:0016477)|cytoplasmic mRNA processing body assembly (GO:0033962)|cytoskeleton organization (GO:0007010)|gene silencing by miRNA (GO:0035195)|multicellular organismal development (GO:0007275)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of hippo signaling (GO:0035331)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of transcription, DNA-templated (GO:0045892)|osteoblast development (GO:0002076)|phosphorylation (GO:0016310)|positive regulation of gene silencing by miRNA (GO:2000637)|regulation of cell shape (GO:0008360)|regulation of transcription, DNA-templated (GO:0006355)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	adherens junction (GO:0005912)|cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|RISC complex (GO:0016442)	transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)	10				BRCA - Breast invasive adenocarcinoma(193;0.011)|KIRC - Kidney renal clear cell carcinoma(197;0.0264)|Kidney(197;0.0315)		GGGAGTAGAGGCCCTGTCAAT	0.637																																						ENST00000273317.4																			0				endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)	10						c.(226-228)gGc>gAc		LIM domains containing 1							20	24	22					3																	45636598		2203	4296	6499	SO:0001583	missense	8994				cytoplasmic mRNA processing body assembly|gene silencing by miRNA|multicellular organismal development|negative regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	cytoplasmic mRNA processing body|nucleus|RNA-induced silencing complex	protein binding|zinc ion binding	g.chr3:45636598G>A	AJ132408	CCDS2729.1	3p21.31	2008-02-01			ENSG00000144791	ENSG00000144791			6612	protein-coding gene	gene with protein product		604543				10647888	Standard	NM_014240		Approved		uc003coq.3	Q9UGP4	OTTHUMG00000133453	ENST00000273317.4:c.227G>A	3.37:g.45636598G>A	ENSP00000273317:p.Gly76Asp					LIMD1_ENST00000465039.1_Intron|LIMD1_ENST00000440097.1_Missense_Mutation_p.G76D	p.G76D	NM_014240.2	NP_055055.1	Q9UGP4	LIMD1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.011)|KIRC - Kidney renal clear cell carcinoma(197;0.0264)|Kidney(197;0.0315)	1	248	+			76			Mediates nuclear export.		Q17RQ1|Q9BQQ9|Q9NQ47	Missense_Mutation	SNP	ENST00000273317.4	37	c.227G>A	CCDS2729.1	.	.	.	.	.	.	.	.	.	.	G	10.63	1.403629	0.25291	.	.	ENSG00000144791	ENST00000440097;ENST00000273317	T;T	0.65549	-0.16;0.08	4.43	3.54	0.40534	.	1.010360	0.07953	N	0.981167	T	0.53867	0.1823	L	0.29908	0.895	0.09310	N	1	D	0.54047	0.964	P	0.45310	0.476	T	0.33007	-0.9885	10	0.20046	T	0.44	.	11.4179	0.49962	0.0:0.1976:0.8024:0.0	.	76	Q9UGP4	LIMD1_HUMAN	D	76	ENSP00000394537:G76D;ENSP00000273317:G76D	ENSP00000273317:G76D	G	+	2	0	LIMD1	45611602	0.981000	0.34729	0.004000	0.12327	0.208000	0.24298	2.181000	0.42547	0.834000	0.34852	0.462000	0.41574	GGC		0.637	LIMD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257327.1	NM_014240		9	12	0	0	0	1	0	9	12					A	45636598	G	A	45636598	3	1	435	1	0	0	0	0	1	0	0	0	8798	1203	42	3	229	3	LIMD1	3	45636598	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	743308	45636598	152385832	1760	22685											
LIMD1	8994	broad.mit.edu	37	chr3	45715854	45715854	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggctcagatgagaccatccGtgtcgtgtccatggacagag	9	8	14	10	2	1	3	1	1	0	3	4	5	3	4	3	2	0	1	3	2	0	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:45715854G>A	ENST00000273317.4	+	7	1865	c.1844G>A	c.(1843-1845)cGt>cAt	p.R615H		NM_014240.2	NP_055055.1	Q9UGP4	LIMD1_HUMAN	LIM domains containing 1	615	LIM zinc-binding 3. {ECO:0000255|PROSITE- ProRule:PRU00125}.|Necessary for nuclear localization.				cell migration (GO:0016477)|cytoplasmic mRNA processing body assembly (GO:0033962)|cytoskeleton organization (GO:0007010)|gene silencing by miRNA (GO:0035195)|multicellular organismal development (GO:0007275)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of hippo signaling (GO:0035331)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of transcription, DNA-templated (GO:0045892)|osteoblast development (GO:0002076)|phosphorylation (GO:0016310)|positive regulation of gene silencing by miRNA (GO:2000637)|regulation of cell shape (GO:0008360)|regulation of transcription, DNA-templated (GO:0006355)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	adherens junction (GO:0005912)|cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|RISC complex (GO:0016442)	transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)	10				BRCA - Breast invasive adenocarcinoma(193;0.011)|KIRC - Kidney renal clear cell carcinoma(197;0.0264)|Kidney(197;0.0315)		GAGACCATCCGTGTCGTGTCC	0.582																																						ENST00000273317.4																			0				endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)	10						c.(1843-1845)cGt>cAt		LIM domains containing 1							97	86	90					3																	45715854		2203	4300	6503	SO:0001583	missense	8994				cytoplasmic mRNA processing body assembly|gene silencing by miRNA|multicellular organismal development|negative regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	cytoplasmic mRNA processing body|nucleus|RNA-induced silencing complex	protein binding|zinc ion binding	g.chr3:45715854G>A	AJ132408	CCDS2729.1	3p21.31	2008-02-01			ENSG00000144791	ENSG00000144791			6612	protein-coding gene	gene with protein product		604543				10647888	Standard	NM_014240		Approved		uc003coq.3	Q9UGP4	OTTHUMG00000133453	ENST00000273317.4:c.1844G>A	3.37:g.45715854G>A	ENSP00000273317:p.Arg615His						p.R615H	NM_014240.2	NP_055055.1	Q9UGP4	LIMD1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.011)|KIRC - Kidney renal clear cell carcinoma(197;0.0264)|Kidney(197;0.0315)	7	1865	+			615			LIM zinc-binding 3.|Necessary for nuclear localization.		Q17RQ1|Q9BQQ9|Q9NQ47	Missense_Mutation	SNP	ENST00000273317.4	37	c.1844G>A	CCDS2729.1	.	.	.	.	.	.	.	.	.	.	G	36	5.654231	0.96724	.	.	ENSG00000144791	ENST00000273317	D	0.87256	-2.23	5.71	5.71	0.89125	Zinc finger, LIM-type (4);	0.000000	0.85682	D	0.000000	D	0.94155	0.8125	M	0.88512	2.96	0.80722	D	1	D	0.61080	0.989	P	0.60886	0.88	D	0.94469	0.7683	10	0.66056	D	0.02	.	19.8677	0.96824	0.0:0.0:1.0:0.0	.	615	Q9UGP4	LIMD1_HUMAN	H	615	ENSP00000273317:R615H	ENSP00000273317:R615H	R	+	2	0	LIMD1	45690858	1.000000	0.71417	0.960000	0.40013	0.994000	0.84299	9.444000	0.97578	2.709000	0.92574	0.655000	0.94253	CGT		0.582	LIMD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257327.1	NM_014240		12	13	0	0	0	1	0	12	13					A	45715854	G	A	45715854	3	1	435	1	0	0	0	0	1	0	0	0	8798	1145	40	1	1870	1	LIMD1	3	45715854	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	79256	45715854	152306576	1761	22686											
SACM1L	22908	broad.mit.edu	37	chr3	45746682	45746682	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaatatttggtatactgggCacaatccatctggtggcagg	10	11	11	9	0	1	0	0	0	1	0	2	0	2	0	2	5	1	3	2	5	5	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:45746682C>T	ENST00000389061.5	+	3	390	c.186C>T	c.(184-186)ggC>ggT	p.G62G	SACM1L_ENST00000418611.1_5'UTR|SACM1L_ENST00000541314.1_Missense_Mutation_p.A44V|SACM1L_ENST00000464524.1_3'UTR	NM_014016.3	NP_054735.3	Q9NTJ5	SAC1_HUMAN	SAC1 suppressor of actin mutations 1-like (yeast)	62					phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of endoplasmic reticulum membrane (GO:0030176)	phosphatase activity (GO:0016791)|phosphatidylinositol bisphosphate phosphatase activity (GO:0034593)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphatidylinositol-4-phosphate phosphatase activity (GO:0043812)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)	23				BRCA - Breast invasive adenocarcinoma(193;0.0102)|KIRC - Kidney renal clear cell carcinoma(197;0.0234)|Kidney(197;0.0277)		GTATACTGGGCACAATCCATC	0.353																																						ENST00000541314.1																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)	23						c.(130-132)gCa>gTa		SAC1 suppressor of actin mutations 1-like (yeast)							113	122	119					3																	45746682		2203	4300	6503	SO:0001819	synonymous_variant	22908					Golgi apparatus		g.chr3:45746682C>T	AB020658	CCDS33745.1	3p21.3	2010-03-11			ENSG00000211456	ENSG00000211456			17059	protein-coding gene	gene with protein product		606569				10048485, 11352561	Standard	NM_014016		Approved	SAC1, KIAA0851	uc003cos.2	Q9NTJ5	OTTHUMG00000156653	ENST00000389061.5:c.186C>T	3.37:g.45746682C>T						SACM1L_ENST00000464524.1_3'UTR|SACM1L_ENST00000418611.1_5'UTR|SACM1L_ENST00000389061.5_Silent_p.G62G	p.A44V			Q9NTJ5	SAC1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.0102)|KIRC - Kidney renal clear cell carcinoma(197;0.0234)|Kidney(197;0.0277)	3	193	+			0					A8K527|B4DK71|O94935|Q7LA14|Q7LA22|Q96AX7|Q9NQ46|Q9NQ57	Missense_Mutation	SNP	ENST00000389061.5	37	c.131C>T	CCDS33745.1	.	.	.	.	.	.	.	.	.	.	C	15.34	2.805641	0.50315	.	.	ENSG00000211456	ENST00000438671;ENST00000541314	T	0.42900	0.96	5.7	4.79	0.61399	.	.	.	.	.	T	0.41673	0.1169	.	.	.	0.25605	N	0.986558	P	0.36354	0.549	B	0.39617	0.305	T	0.41875	-0.9484	8	0.72032	D	0.01	-2.4677	14.5725	0.68220	0.2609:0.7391:0.0:0.0	.	44	B4DK71	.	V	44	ENSP00000443373:A44V	ENSP00000411966:A44V	A	+	2	0	SACM1L	45721686	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	2.619000	0.46401	2.692000	0.91855	0.467000	0.42956	GCA		0.353	SACM1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345065.2	NM_014016		27	52	0	0	0	1	0	27	52					T	45746682	C	T	45746682	2	4	435	1	0	0	0	0	0	0	0	1	13803	697	25	3		3	SACM1L	3	45746682	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	30828	45746682	152275748	1762	22687											
CCR1	1230	broad.mit.edu	37	chr3	46244868	46244868	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acgcctgtggaacaactgccGcaggtacttccggaacctct	9	8	10	14	3	1	0	0	0	1	0	2	2	2	2	4	3	5	2	4	3	4	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:46244868G>A	ENST00000296140.3	-	2	1062	c.937C>T	c.(937-939)Cgg>Tgg	p.R313W	CCR3_ENST00000357422.2_Intron	NM_001295.2	NP_001286.1	P32246	CCR1_HUMAN	chemokine (C-C motif) receptor 1	313					calcium ion transport (GO:0006816)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|cellular calcium ion homeostasis (GO:0006874)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|cytokine-mediated signaling pathway (GO:0019221)|dendritic cell chemotaxis (GO:0002407)|exocytosis (GO:0006887)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|immune response (GO:0006955)|inflammatory response (GO:0006954)|metabolic process (GO:0008152)|negative regulation of bone mineralization (GO:0030502)|negative regulation of gene expression (GO:0010629)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of monocyte chemotaxis (GO:0090026)|positive regulation of osteoclast differentiation (GO:0045672)|response to wounding (GO:0009611)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	C-C chemokine binding (GO:0019957)|C-C chemokine receptor activity (GO:0016493)|chemokine (C-C motif) ligand 5 binding (GO:0071791)|chemokine (C-C motif) ligand 7 binding (GO:0035717)|chemokine receptor activity (GO:0004950)|phosphatidylinositol phospholipase C activity (GO:0004435)			autonomic_ganglia(1)|large_intestine(6)|lung(6)|pancreas(1)|skin(3)	17				BRCA - Breast invasive adenocarcinoma(193;0.00113)|KIRC - Kidney renal clear cell carcinoma(197;0.0172)|Kidney(197;0.0203)		AACAACTGCCGCAGGTACTTC	0.597																																						ENST00000296140.3																			0				autonomic_ganglia(1)|large_intestine(6)|lung(6)|pancreas(1)|skin(3)	17						c.(937-939)Cgg>Tgg		chemokine (C-C motif) receptor 1							92	78	83					3																	46244868		2203	4300	6503	SO:0001583	missense	1230				cell adhesion|cell-cell signaling|cytokine-mediated signaling pathway|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|G-protein signaling, coupled to cyclic nucleotide second messenger|immune response|inflammatory response	integral to plasma membrane	C-C chemokine receptor activity	g.chr3:46244868G>A		CCDS2737.1	3p21	2012-08-08			ENSG00000163823	ENSG00000163823		"GPCR / Class A : Chemokine receptors : C-C motif", "CD molecules"	1602	protein-coding gene	gene with protein product		601159		SCYAR1, CMKBR1		7679328	Standard	NM_001295		Approved	CKR-1, MIP1aR, CD191	uc003cph.1	P32246	OTTHUMG00000133451	ENST00000296140.3:c.937C>T	3.37:g.46244868G>A	ENSP00000296140:p.Arg313Trp					CCR3_ENST00000357422.2_Intron	p.R313W	NM_001295.2	NP_001286.1	P32246	CCR1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00113)|KIRC - Kidney renal clear cell carcinoma(197;0.0172)|Kidney(197;0.0203)	2	1062	-			313					Q86VA9	Missense_Mutation	SNP	ENST00000296140.3	37	c.937C>T	CCDS2737.1	.	.	.	.	.	.	.	.	.	.	G	3.293	-0.144576	0.06627	.	.	ENSG00000163823	ENST00000296140	T	0.40225	1.04	5.41	2.62	0.31277	.	0.378699	0.25958	N	0.027212	T	0.44286	0.1286	M	0.82923	2.615	0.09310	N	1	B	0.18461	0.028	B	0.17979	0.02	T	0.40251	-0.9573	10	0.36615	T	0.2	.	10.5098	0.44855	0.275:0.0:0.725:0.0	.	313	P32246	CCR1_HUMAN	W	313	ENSP00000296140:R313W	ENSP00000296140:R313W	R	-	1	2	CCR1	46219872	0.000000	0.05858	0.003000	0.11579	0.005000	0.04900	-0.513000	0.06305	0.777000	0.33496	0.561000	0.74099	CGG		0.597	CCR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257325.2	NM_001295		16	11	0	0	0	1	0	16	11					A	46244868	G	A	46244868	3	1	435	1	0	0	0	0	1	0	0	0	2939	1086	38	1	134	1	CCR1	3	46244868	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	498186	46244868	151777562	1763	22688											
CCR5	1234	broad.mit.edu	37	chr3	46414416	46414416	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggattatcaagtgtcaagtcCaatctatgacatcaattatt	14	14	6	7	0	4	1	3	1	1	0	5	2	5	2	1	1	0	0	1	1	7	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:46414416C>T	ENST00000292303.4	+	2	169	c.23C>T	c.(22-24)cCa>cTa	p.P8L	CCR5_ENST00000445772.1_Missense_Mutation_p.P8L|CCR5_ENST00000343801.4_Missense_Mutation_p.P8L|RP11-24F11.2_ENST00000451485.1_RNA	NM_001100168.1	NP_001093638.1	P51681	CCR5_HUMAN	chemokine (C-C motif) receptor 5 (gene/pseudogene)	8					calcium ion transport (GO:0006816)|calcium-mediated signaling (GO:0019722)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|cellular defense response (GO:0006968)|cellular response to lipopolysaccharide (GO:0071222)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|dendritic cell chemotaxis (GO:0002407)|entry into host cell (GO:0030260)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|MAPK cascade (GO:0000165)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to cholesterol (GO:0070723)|signaling (GO:0023052)|viral process (GO:0016032)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|C-C chemokine binding (GO:0019957)|C-C chemokine receptor activity (GO:0016493)|chemokine (C-C motif) ligand 5 binding (GO:0071791)|chemokine receptor activity (GO:0004950)|coreceptor activity (GO:0015026)|phosphatidylinositol phospholipase C activity (GO:0004435)			central_nervous_system(1)|large_intestine(2)|lung(13)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20				BRCA - Breast invasive adenocarcinoma(193;0.00112)|KIRC - Kidney renal clear cell carcinoma(197;0.017)|Kidney(197;0.02)	Maraviroc(DB04835)	GTGTCAAGTCCAATCTATGAC	0.418																																						ENST00000343801.4																			0				central_nervous_system(1)|large_intestine(2)|lung(13)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20						c.(22-24)cCa>cTa		chemokine (C-C motif) receptor 5 (gene/pseudogene)	Maraviroc(DB04835)						114	123	120					3																	46414416		2203	4296	6499	SO:0001583	missense	1234				cell-cell signaling|cellular defense response|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|entry into host cell|immune response|inflammatory response|initiation of viral infection	endosome|external side of plasma membrane|integral to plasma membrane	actin binding|C-C chemokine receptor activity|coreceptor activity|phosphatidylinositol phospholipase C activity	g.chr3:46414416C>T		CCDS2739.1	3p21	2012-08-08	2012-01-23		ENSG00000160791	ENSG00000160791		"GPCR / Class A : Chemokine receptors : C-C motif", "CD molecules"	1606	protein-coding gene	gene with protein product		601373	"chemokine (C-C motif) receptor 5"	CMKBR5		8639485	Standard	NM_001100168		Approved	CKR-5, CC-CKR-5, CKR5, CD195, IDDM22	uc003cpo.4	P51681	OTTHUMG00000133481	ENST00000292303.4:c.23C>T	3.37:g.46414416C>T	ENSP00000292303:p.Pro8Leu					CCR5_ENST00000292303.4_Missense_Mutation_p.P8L|CCR5_ENST00000445772.1_Missense_Mutation_p.P8L|RP11-24F11.2_ENST00000451485.1_RNA	p.P8L	NM_000579.3	NP_000570.1	P51681	CCR5_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00112)|KIRC - Kidney renal clear cell carcinoma(197;0.017)|Kidney(197;0.02)	3	380	+			8					O14692|O14693|O14695|O14696|O14697|O14698|O14699|O14700|O14701|O14702|O14703|O14704|O14705|O14706|O14707|O14708|O15538|Q9UPA4	Missense_Mutation	SNP	ENST00000292303.4	37	c.23C>T	CCDS2739.1	.	.	.	.	.	.	.	.	.	.	C	17.26	3.343266	0.61073	.	.	ENSG00000160791	ENST00000343801;ENST00000292303;ENST00000445772	T;T;T	0.69175	-0.38;-0.38;-0.38	5.16	2.25	0.28309	.	1.344090	0.05398	U	0.540113	T	0.72614	0.3482	M	0.82630	2.6	0.09310	N	1	B	0.30937	0.301	B	0.38378	0.272	T	0.61739	-0.7001	10	0.59425	D	0.04	.	6.6519	0.22967	0.0:0.6917:0.1613:0.1469	.	8	P51681	CCR5_HUMAN	L	8	ENSP00000343985:P8L;ENSP00000292303:P8L;ENSP00000404881:P8L	ENSP00000292303:P8L	P	+	2	0	CCR5	46389420	0.012000	0.17670	0.006000	0.13384	0.722000	0.41435	2.019000	0.41001	1.104000	0.41587	0.561000	0.74099	CCA		0.418	CCR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257377.2	NM_000579		38	84	0	0	0	1	0	38	84					T	46414416	C	T	46414416	3	4	435	1	0	0	0	0	1	0	0	0	2944	594	21	3	25	3	CCR5	3	46414416	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	169548	46414416	151608014	1764	22689											
LRRC2	79442	broad.mit.edu	37	chr3	46592981	46592981	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaaggcgctcttctcaagcCtttccacctccttcttctgc	5	13	5	18	1	4	0	1	0	4	0	7	0	6	0	5	1	2	1	5	1	2	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:46592981C>A	ENST00000395905.3	-	2	493	c.101G>T	c.(100-102)aGg>aTg	p.R34M	LRRC2_ENST00000496388.1_Intron|AC104304.2_ENST00000583198.1_RNA|LRRC2_ENST00000296144.3_Missense_Mutation_p.R34M	NM_024512.4	NP_078788.2	Q9BYS8	LRRC2_HUMAN	leucine rich repeat containing 2	34										breast(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)	17		Ovarian(412;0.0563)		OV - Ovarian serous cystadenocarcinoma(275;6.37e-05)|BRCA - Breast invasive adenocarcinoma(193;0.00133)|KIRC - Kidney renal clear cell carcinoma(197;0.0214)|Kidney(197;0.0254)		CTTCTCAAGCCTTTCCACCTC	0.463																																						ENST00000395905.3																			0				breast(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)	17						c.(100-102)aGg>aTg		leucine rich repeat containing 2							141	140	140					3																	46592981		2203	4300	6503	SO:0001583	missense	79442							g.chr3:46592981C>A	AJ308569	CCDS2741.1	3p21.3	2014-07-30	2003-11-19		ENSG00000163827	ENSG00000163827			14676	protein-coding gene	gene with protein product		607180	"leucine-rich repeat-containing 2"			11896456	Standard	NM_024512		Approved		uc010hji.3	Q9BYS8	OTTHUMG00000133479	ENST00000395905.3:c.101G>T	3.37:g.46592981C>A	ENSP00000379241:p.Arg34Met					LRRC2_ENST00000296144.3_Missense_Mutation_p.R34M|LRRC2_ENST00000496388.1_Intron	p.R34M	NM_024512.4	NP_078788.2	Q9BYS8	LRRC2_HUMAN		OV - Ovarian serous cystadenocarcinoma(275;6.37e-05)|BRCA - Breast invasive adenocarcinoma(193;0.00133)|KIRC - Kidney renal clear cell carcinoma(197;0.0214)|Kidney(197;0.0254)	2	493	-		Ovarian(412;0.0563)	34					B2RDQ7|Q96LT5	Missense_Mutation	SNP	ENST00000395905.3	37	c.101G>T	CCDS2741.1	.	.	.	.	.	.	.	.	.	.	C	17.38	3.374605	0.61735	.	.	ENSG00000163827	ENST00000395905;ENST00000296144	T;T	0.24538	1.85;1.85	4.73	4.73	0.59995	.	0.000000	0.64402	D	0.000003	T	0.39064	0.1064	L	0.34521	1.04	0.51012	D	0.999903	D	0.76494	0.999	D	0.80764	0.994	T	0.04708	-1.0932	10	0.35671	T	0.21	.	15.6094	0.76704	0.0:1.0:0.0:0.0	.	34	Q9BYS8	LRRC2_HUMAN	M	34	ENSP00000379241:R34M;ENSP00000296144:R34M	ENSP00000296144:R34M	R	-	2	0	LRRC2	46567985	0.998000	0.40836	0.715000	0.30552	0.483000	0.33249	4.701000	0.61810	2.624000	0.88883	0.655000	0.94253	AGG		0.463	LRRC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257375.2			21	38	1	0	3.62473e-10	1	3.8659e-10	21	38					A	46592981	C	A	46592981	3	1	435	1	0	0	0	0	1	0	0	0	8976	681	24	5	1046	5	LRRC2	3	46592981	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	178565	46592981	151429449	1765	22690											
PRSS50	29122	broad.mit.edu	37	chr3	46753878	46753878	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cctgtaggtagatgggtgggGcctcgctcttctggcagcct	4	11	15	11	1	2	1	0	0	2	1	3	1	2	1	3	5	1	4	3	5	2	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:46753878G>A	ENST00000460241.1	-	11	2686	c.1016C>T	c.(1015-1017)gCc>gTc	p.A339V	PRSS50_ENST00000315170.7_Missense_Mutation_p.A339V			Q9UI38	TSP50_HUMAN	protease, serine, 50	339	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				proteolysis (GO:0006508)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)	serine-type endopeptidase activity (GO:0004252)|threonine-type endopeptidase activity (GO:0004298)			endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	11						GATGGGTGGGGCCTCGCTCTT	0.642																																					Pancreas(41;915 1239 11561 17469)	ENST00000460241.1																			0				endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	11						c.(1015-1017)gCc>gTc		protease, serine, 50							65	58	60					3																	46753878		2203	4300	6503	SO:0001583	missense	29122				proteolysis	endoplasmic reticulum	serine-type endopeptidase activity|threonine-type endopeptidase activity	g.chr3:46753878G>A	AF100707	CCDS2745.1	3p21.31	2011-05-24			ENSG00000206549	ENSG00000206549		"Serine peptidases / Serine peptidases"	17910	protein-coding gene	gene with protein product	"cancer/testis antigen 20", "testes specific protease 50"	607950				10397268	Standard	NM_013270		Approved	TSP50, CT20	uc003cqe.1	Q9UI38	OTTHUMG00000164067	ENST00000460241.1:c.1016C>T	3.37:g.46753878G>A	ENSP00000418875:p.Ala339Val					PRSS50_ENST00000315170.7_Missense_Mutation_p.A339V	p.A339V			Q9UI38	TSP50_HUMAN			11	2686	-			339			Peptidase S1.			Missense_Mutation	SNP	ENST00000460241.1	37	c.1016C>T	CCDS2745.1	.	.	.	.	.	.	.	.	.	.	G	6.468	0.454542	0.12283	.	.	ENSG00000206549	ENST00000455218;ENST00000315170;ENST00000460241	D;D	0.88431	-2.38;-2.38	4.08	2.24	0.28232	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.336673	0.21831	N	0.068463	D	0.83348	0.5235	N	0.16790	0.44	0.09310	N	1	D	0.56968	0.978	P	0.58077	0.832	T	0.72620	-0.4238	10	0.17369	T	0.5	.	5.4581	0.16602	0.1103:0.2057:0.6839:0.0	.	339	Q9UI38	TSP50_HUMAN	V	253;339;339	ENSP00000326598:A339V;ENSP00000418875:A339V	ENSP00000326598:A339V	A	-	2	0	PRSS50	46728882	0.099000	0.21834	0.011000	0.14972	0.028000	0.11728	1.470000	0.35354	0.648000	0.30732	0.655000	0.94253	GCC		0.642	PRSS50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354544.1			8	12	0	0	0	1	0	8	12					A	46753878	G	A	46753878	3	1	435	1	0	0	0	0	1	0	0	0	12631	1203	42	3	145	3	PRSS50	3	46753878	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	160897	46753878	151268552	1766	22691											
NBEAL2	23218	broad.mit.edu	37	chr3	47041142	47041142	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgcctgaacctctcagatctGctggctgtggtacagctgtc	6	12	11	12	0	2	2	1	1	2	1	4	2	2	2	2	2	5	4	2	2	2	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:47041142G>A	ENST00000450053.3	+	26	3905	c.3726G>A	c.(3724-3726)ctG>ctA	p.L1242L	NBEAL2_ENST00000292309.5_Intron|NBEAL2_ENST00000383740.2_De_novo_Start_InFrame	NM_015175.2	NP_055990.1	Q6ZNJ1	NBEL2_HUMAN	neurobeachin-like 2	1242	Leu-rich.				blood coagulation (GO:0007596)|megakaryocyte development (GO:0035855)|platelet alpha granule organization (GO:0070889)|platelet formation (GO:0030220)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)				NS(1)|breast(1)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(9)|lung(9)|ovary(4)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Acute lymphoblastic leukemia(5;0.0534)		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)		TCTCAGATCTGCTGGCTGTGG	0.617																																						ENST00000383740.2																			0				NS(1)|breast(1)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(9)|lung(9)|ovary(4)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	51								neurobeachin-like 2							51	54	53					3																	47041142		1973	4160	6133	SO:0001819	synonymous_variant	23218						binding	g.chr3:47041142G>A	AB011112	CCDS46817.1	3p21.31	2014-09-17			ENSG00000160796	ENSG00000160796		"WD repeat domain containing"	31928	protein-coding gene	gene with protein product		614169					Standard	NM_015175		Approved	KIAA0540	uc003cqp.3	Q6ZNJ1	OTTHUMG00000156497	ENST00000450053.3:c.3726G>A	3.37:g.47041142G>A						NBEAL2_ENST00000292309.5_Intron|NBEAL2_ENST00000450053.3_Silent_p.L1242L				Q6ZNJ1	NBEL2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)	0	3905	+		Acute lymphoblastic leukemia(5;0.0534)						O60288|Q6P994|Q6UX91|Q8NAC9	Translation_Start_Site	SNP	ENST00000450053.3	37		CCDS46817.1																																																																																				0.617	NBEAL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344363.3	XM_291064		18	21	0	0	0	1	0	18	21					A	47041142	G	A	47041142	2	1	435	1	0	0	0	0	0	0	0	1	10189	1306	46	3		3	NBEAL2	3	47041142	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	287264	47041142	150981288	1767	22692											
NBEAL2	23218	broad.mit.edu	37	chr3	47042568	47042568	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tggcgtggcgtggaaggcagCgatgaggctgcctggcggga	6	6	21	8	4	0	1	0	1	0	0	0	4	0	3	1	7	2	2	1	7	1	0	rs372411763		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:47042568C>T	ENST00000450053.3	+	28	4562	c.4383C>T	c.(4381-4383)agC>agT	p.S1461S	NBEAL2_ENST00000292309.5_Silent_p.S1277S|NBEAL2_ENST00000383740.2_5'UTR	NM_015175.2	NP_055990.1	Q6ZNJ1	NBEL2_HUMAN	neurobeachin-like 2	1461					blood coagulation (GO:0007596)|megakaryocyte development (GO:0035855)|platelet alpha granule organization (GO:0070889)|platelet formation (GO:0030220)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)				NS(1)|breast(1)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(9)|lung(9)|ovary(4)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Acute lymphoblastic leukemia(5;0.0534)		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)		TGGAAGGCAGCGATGAGGCTG	0.622																																						ENST00000450053.3																			0				NS(1)|breast(1)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(9)|lung(9)|ovary(4)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	51						c.(4381-4383)agC>agT		neurobeachin-like 2		C		1,4289		0,1,2144	63	78	73		4383	-5.7	0.8	3		73	1,8489		0,1,4244	no	coding-synonymous	NBEAL2	NM_015175.1		0,2,6388	TT,TC,CC		0.0118,0.0233,0.0156		1461/2755	47042568	2,12778	2145	4245	6390	SO:0001819	synonymous_variant	23218						binding	g.chr3:47042568C>T	AB011112	CCDS46817.1	3p21.31	2014-09-17			ENSG00000160796	ENSG00000160796		"WD repeat domain containing"	31928	protein-coding gene	gene with protein product		614169					Standard	NM_015175		Approved	KIAA0540	uc003cqp.3	Q6ZNJ1	OTTHUMG00000156497	ENST00000450053.3:c.4383C>T	3.37:g.47042568C>T						NBEAL2_ENST00000292309.5_Silent_p.S1277S|NBEAL2_ENST00000383740.2_5'UTR	p.S1461S	NM_015175.2	NP_055990.1	Q6ZNJ1	NBEL2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)	28	4562	+		Acute lymphoblastic leukemia(5;0.0534)	1461					O60288|Q6P994|Q6UX91|Q8NAC9	Silent	SNP	ENST00000450053.3	37	c.4383C>T	CCDS46817.1	.	.	.	.	.	.	.	.	.	.	C	6.930	0.541323	0.13250	2.33E-4	1.18E-4	ENSG00000160796	ENST00000416683	.	.	.	5.26	-5.73	0.02398	.	.	.	.	.	T	0.50582	0.1624	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.52472	-0.8571	4	.	.	.	.	9.1605	0.37019	0.0:0.3803:0.0993:0.5204	.	.	.	.	V	749	.	.	A	+	2	0	NBEAL2	47017572	0.006000	0.16342	0.842000	0.33263	0.730000	0.41778	-0.932000	0.03963	-1.109000	0.02996	-0.136000	0.14681	GCG		0.622	NBEAL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344363.3	XM_291064		7	10	0	0	0	1	0	7	10					T	47042568	C	T	47042568	2	4	435	1	0	0	0	0	0	0	0	1	10189	767	27	1		1	NBEAL2	3	47042568	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	1426	47042568	150979862	1768	22693											
NBEAL2	23218	broad.mit.edu	37	chr3	47043455	47043455	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgcacatgctgctacagactGcagtgccagcccgccgcgag	8	6	12	15	3	0	1	0	0	0	1	0	2	0	1	3	0	7	4	3	0	1	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:47043455G>A	ENST00000450053.3	+	31	5007	c.4828G>A	c.(4828-4830)Gca>Aca	p.A1610T	NBEAL2_ENST00000292309.5_Missense_Mutation_p.A1426T|NBEAL2_ENST00000383740.2_5'UTR	NM_015175.2	NP_055990.1	Q6ZNJ1	NBEL2_HUMAN	neurobeachin-like 2	1610					blood coagulation (GO:0007596)|megakaryocyte development (GO:0035855)|platelet alpha granule organization (GO:0070889)|platelet formation (GO:0030220)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)				NS(1)|breast(1)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(9)|lung(9)|ovary(4)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Acute lymphoblastic leukemia(5;0.0534)		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)		GCTACAGACTGCAGTGCCAGC	0.622																																						ENST00000450053.3																			0				NS(1)|breast(1)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(9)|lung(9)|ovary(4)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	51						c.(4828-4830)Gca>Aca		neurobeachin-like 2							13	17	16					3																	47043455		2145	4243	6388	SO:0001583	missense	23218						binding	g.chr3:47043455G>A	AB011112	CCDS46817.1	3p21.31	2014-09-17			ENSG00000160796	ENSG00000160796		"WD repeat domain containing"	31928	protein-coding gene	gene with protein product		614169					Standard	NM_015175		Approved	KIAA0540	uc003cqp.3	Q6ZNJ1	OTTHUMG00000156497	ENST00000450053.3:c.4828G>A	3.37:g.47043455G>A	ENSP00000415034:p.Ala1610Thr					NBEAL2_ENST00000292309.5_Missense_Mutation_p.A1426T|NBEAL2_ENST00000383740.2_5'UTR	p.A1610T	NM_015175.2	NP_055990.1	Q6ZNJ1	NBEL2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)	31	5007	+		Acute lymphoblastic leukemia(5;0.0534)	1610					O60288|Q6P994|Q6UX91|Q8NAC9	Missense_Mutation	SNP	ENST00000450053.3	37	c.4828G>A	CCDS46817.1	.	.	.	.	.	.	.	.	.	.	G	4.071	0.010971	0.07912	.	.	ENSG00000160796	ENST00000292309;ENST00000450053	T;T	0.56611	0.47;0.45	4.66	-0.559	0.11792	.	0.739822	0.12480	N	0.465269	T	0.34366	0.0895	L	0.36672	1.1	0.09310	N	0.999997	B;B	0.02656	0.0;0.0	B;B	0.06405	0.001;0.002	T	0.17715	-1.0360	10	0.24483	T	0.36	.	4.06	0.09834	0.3053:0.0:0.4394:0.2552	.	1426;1610	Q6ZNJ1-2;Q6ZNJ1	.;NBEL2_HUMAN	T	1426;1610	ENSP00000292309:A1426T;ENSP00000415034:A1610T	ENSP00000292309:A1426T	A	+	1	0	NBEAL2	47018459	0.000000	0.05858	0.000000	0.03702	0.194000	0.23727	-0.124000	0.10595	-0.331000	0.08501	-0.150000	0.13652	GCA		0.622	NBEAL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344363.3	XM_291064		7	11	0	0	0	1	0	7	11					A	47043455	G	A	47043455	3	1	435	1	0	0	0	0	1	0	0	0	10189	1319	46	3	4950	3	NBEAL2	3	47043455	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	887	47043455	150978975	1769	22694											
NBEAL2	23218	broad.mit.edu	37	chr3	47047523	47047523	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggccagccgccgaggaggccCtcaatgtcttctattactgc	7	9	11	14	2	3	0	1	0	2	0	3	2	3	1	4	3	3	0	4	3	3	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:47047523C>T	ENST00000450053.3	+	43	7068	c.6889C>T	c.(6889-6891)Ctc>Ttc	p.L2297F	NBEAL2_ENST00000292309.5_Missense_Mutation_p.L2113F|NBEAL2_ENST00000383740.2_Missense_Mutation_p.L576F	NM_015175.2	NP_055990.1	Q6ZNJ1	NBEL2_HUMAN	neurobeachin-like 2	2297	BEACH. {ECO:0000255|PROSITE- ProRule:PRU00026}.				blood coagulation (GO:0007596)|megakaryocyte development (GO:0035855)|platelet alpha granule organization (GO:0070889)|platelet formation (GO:0030220)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)				NS(1)|breast(1)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(9)|lung(9)|ovary(4)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Acute lymphoblastic leukemia(5;0.0534)		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)		CGAGGAGGCCCTCAATGTCTT	0.597																																						ENST00000450053.3																			0				NS(1)|breast(1)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(9)|lung(9)|ovary(4)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	51						c.(6889-6891)Ctc>Ttc		neurobeachin-like 2							62	75	71					3																	47047523		2109	4223	6332	SO:0001583	missense	23218						binding	g.chr3:47047523C>T	AB011112	CCDS46817.1	3p21.31	2014-09-17			ENSG00000160796	ENSG00000160796		"WD repeat domain containing"	31928	protein-coding gene	gene with protein product		614169					Standard	NM_015175		Approved	KIAA0540	uc003cqp.3	Q6ZNJ1	OTTHUMG00000156497	ENST00000450053.3:c.6889C>T	3.37:g.47047523C>T	ENSP00000415034:p.Leu2297Phe					NBEAL2_ENST00000292309.5_Missense_Mutation_p.L2113F|NBEAL2_ENST00000383740.2_Missense_Mutation_p.L576F	p.L2297F	NM_015175.2	NP_055990.1	Q6ZNJ1	NBEL2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)	43	7068	+		Acute lymphoblastic leukemia(5;0.0534)	2297			BEACH.		O60288|Q6P994|Q6UX91|Q8NAC9	Missense_Mutation	SNP	ENST00000450053.3	37	c.6889C>T	CCDS46817.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.94|18.94	3.729522|3.729522	0.69074|0.69074	.|.	.|.	ENSG00000160796|ENSG00000160796	ENST00000292309;ENST00000383740;ENST00000450053;ENST00000445550;ENST00000423436|ENST00000443829	T;T;T;T|.	0.80393|.	-1.37;-1.37;-1.37;-1.37|.	4.78|4.78	3.9|3.9	0.45041|0.45041	BEACH domain (4);|.	0.129477|.	0.53938|.	D|.	0.000056|.	T|T	0.59742|0.59742	0.2216|0.2216	L|L	0.48935|0.48935	1.535|1.535	0.58432|0.58432	D|D	0.999995|0.999995	P;P|.	0.44478|.	0.836;0.77|.	P;B|.	0.47206|.	0.541;0.442|.	T|T	0.57112|0.57112	-0.7867|-0.7867	10|5	0.62326|.	D|.	0.03|.	.|.	13.0997|13.0997	0.59212|0.59212	0.1618:0.8382:0.0:0.0|0.1618:0.8382:0.0:0.0	.|.	2113;2297|.	Q6ZNJ1-2;Q6ZNJ1|.	.;NBEL2_HUMAN|.	F|L	2113;576;2297;240;124|665	ENSP00000292309:L2113F;ENSP00000373246:L576F;ENSP00000415034:L2297F;ENSP00000415063:L124F|.	ENSP00000292309:L2113F|.	L|P	+|+	1|2	0|0	NBEAL2|NBEAL2	47022527|47022527	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.992000|0.992000	0.81027|0.81027	5.862000|5.862000	0.69560|0.69560	1.216000|1.216000	0.43427|0.43427	0.561000|0.561000	0.74099|0.74099	CTC|CCT		0.597	NBEAL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344363.3	XM_291064		22	47	0	0	0	1	0	22	47					T	47047523	C	T	47047523	3	4	435	1	0	0	0	0	1	0	0	0	10189	681	24	3	7059	3	NBEAL2	3	47047523	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	4068	47047523	150974907	1770	22695											
NBEAL2	23218	broad.mit.edu	37	chr3	47049635	47049635	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gggctgcagtgagctgtgtgGccatcagcactgaacttgac	8	9	14	10	0	1	3	1	3	0	0	1	3	1	3	1	2	4	4	1	2	1	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:47049635G>A	ENST00000450053.3	+	50	7857	c.7678G>A	c.(7678-7680)Gcc>Acc	p.A2560T	NBEAL2_ENST00000292309.5_Missense_Mutation_p.A2376T|NBEAL2_ENST00000383740.2_Missense_Mutation_p.A809T	NM_015175.2	NP_055990.1	Q6ZNJ1	NBEL2_HUMAN	neurobeachin-like 2	2560					blood coagulation (GO:0007596)|megakaryocyte development (GO:0035855)|platelet alpha granule organization (GO:0070889)|platelet formation (GO:0030220)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)				NS(1)|breast(1)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(9)|lung(9)|ovary(4)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Acute lymphoblastic leukemia(5;0.0534)		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)		GAGCTGTGTGGCCATCAGCAC	0.597																																						ENST00000450053.3																			0				NS(1)|breast(1)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(9)|lung(9)|ovary(4)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	51						c.(7678-7680)Gcc>Acc		neurobeachin-like 2							98	97	97					3																	47049635		2172	4281	6453	SO:0001583	missense	23218						binding	g.chr3:47049635G>A	AB011112	CCDS46817.1	3p21.31	2014-09-17			ENSG00000160796	ENSG00000160796		"WD repeat domain containing"	31928	protein-coding gene	gene with protein product		614169					Standard	NM_015175		Approved	KIAA0540	uc003cqp.3	Q6ZNJ1	OTTHUMG00000156497	ENST00000450053.3:c.7678G>A	3.37:g.47049635G>A	ENSP00000415034:p.Ala2560Thr					NBEAL2_ENST00000292309.5_Missense_Mutation_p.A2376T|NBEAL2_ENST00000383740.2_Missense_Mutation_p.A809T	p.A2560T	NM_015175.2	NP_055990.1	Q6ZNJ1	NBEL2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)	50	7857	+		Acute lymphoblastic leukemia(5;0.0534)	2560					O60288|Q6P994|Q6UX91|Q8NAC9	Missense_Mutation	SNP	ENST00000450053.3	37	c.7678G>A	CCDS46817.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	G|G|G	33|33|33	5.225825|5.225825|5.225825	0.95173|0.95173|0.95173	.|.|.	.|.|.	ENSG00000160796|ENSG00000160796|ENSG00000160796	ENST00000292309;ENST00000383740;ENST00000450053;ENST00000445550|ENST00000443829|ENST00000416683	T;T;T|.|.	0.63744|.|.	-0.06;-0.06;-0.06|.|.	5.16|5.16|5.16	5.16|5.16|5.16	0.70880|0.70880|0.70880	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);|.|.	0.102883|.|.	0.64402|.|.	D|.|.	0.000003|.|.	T|T|.	0.74245|0.74245|.	0.3691|0.3691|.	M|M|M	0.72576|0.72576|0.72576	2.205|2.205|2.205	0.80722|0.80722|0.80722	D|D|D	1|1|1	D;P|.|.	0.89917|.|.	1.0;0.743|.|.	D;P|.|.	0.87578|.|.	0.998;0.705|.|.	T|T|.	0.73672|0.73672|.	-0.3909|-0.3909|.	10|5|.	0.52906|.|.	T|.|.	0.07|.|.	.|.|.	16.1922|16.1922|16.1922	0.82000|0.82000|0.82000	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.|.	2376;2560|.|.	Q6ZNJ1-2;Q6ZNJ1|.|.	.;NBEL2_HUMAN|.|.	T|D|X	2376;809;2560;503|898|1847	ENSP00000292309:A2376T;ENSP00000373246:A809T;ENSP00000415034:A2560T|.|.	ENSP00000292309:A2376T|.|.	A|G|W	+|+|+	1|2|3	0|0|0	NBEAL2|NBEAL2|NBEAL2	47024639|47024639|47024639	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.984000|0.984000|0.984000	0.73092|0.73092|0.73092	5.098000|5.098000|5.098000	0.64548|0.64548|0.64548	2.676000|2.676000|2.676000	0.91093|0.91093|0.91093	0.561000|0.561000|0.561000	0.74099|0.74099|0.74099	GCC|GGC|TGG		0.597	NBEAL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344363.3	XM_291064		13	16	0	0	0	1	0	13	16					A	47049635	G	A	47049635	3	1	435	1	0	0	0	0	1	0	0	0	10189	1203	42	3	7876	3	NBEAL2	3	47049635	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	2112	47049635	150972795	1771	22696											
NBEAL2	23218	broad.mit.edu	37	chr3	47049880	47049880	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttccacctggcattggggtcCgaaggccagattgtggtaca	8	10	13	10	1	0	1	0	0	0	1	2	2	2	1	4	5	1	2	4	5	2	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:47049880C>T	ENST00000450053.3	+	51	8006	c.7827C>T	c.(7825-7827)tcC>tcT	p.S2609S	NBEAL2_ENST00000292309.5_Silent_p.S2425S|NBEAL2_ENST00000383740.2_Silent_p.S858S	NM_015175.2	NP_055990.1	Q6ZNJ1	NBEL2_HUMAN	neurobeachin-like 2	2609					blood coagulation (GO:0007596)|megakaryocyte development (GO:0035855)|platelet alpha granule organization (GO:0070889)|platelet formation (GO:0030220)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)				NS(1)|breast(1)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(9)|lung(9)|ovary(4)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Acute lymphoblastic leukemia(5;0.0534)		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)		CATTGGGGTCCGAAGGCCAGA	0.597																																						ENST00000450053.3																			0				NS(1)|breast(1)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(9)|lung(9)|ovary(4)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	51						c.(7825-7827)tcC>tcT		neurobeachin-like 2							49	48	48					3																	47049880		2041	4186	6227	SO:0001819	synonymous_variant	23218						binding	g.chr3:47049880C>T	AB011112	CCDS46817.1	3p21.31	2014-09-17			ENSG00000160796	ENSG00000160796		"WD repeat domain containing"	31928	protein-coding gene	gene with protein product		614169					Standard	NM_015175		Approved	KIAA0540	uc003cqp.3	Q6ZNJ1	OTTHUMG00000156497	ENST00000450053.3:c.7827C>T	3.37:g.47049880C>T						NBEAL2_ENST00000292309.5_Silent_p.S2425S|NBEAL2_ENST00000383740.2_Silent_p.S858S	p.S2609S	NM_015175.2	NP_055990.1	Q6ZNJ1	NBEL2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)	51	8006	+		Acute lymphoblastic leukemia(5;0.0534)	2609					O60288|Q6P994|Q6UX91|Q8NAC9	Silent	SNP	ENST00000450053.3	37	c.7827C>T	CCDS46817.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	8.838|8.838	0.941482|0.941482	0.18281|0.18281	.|.	.|.	ENSG00000160796|ENSG00000160796	ENST00000416683|ENST00000443829	.|.	.|.	.|.	5.15|5.15	-3.61|-3.61	0.04556|0.04556	.|.	.|.	.|.	.|.	.|.	T|.	0.36552|.	0.0971|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.35525|.	-0.9785|.	4|.	.|.	.|.	.|.	.|.	0.9244|0.9244	0.01321|0.01321	0.2502:0.3119:0.1285:0.3093|0.2502:0.3119:0.1285:0.3093	.|.	.|.	.|.	.|.	L|X	1897|948	.|.	.|.	P|R	+|+	2|1	0|2	NBEAL2|NBEAL2	47024884|47024884	0.001000|0.001000	0.12720|0.12720	0.988000|0.988000	0.46212|0.46212	0.899000|0.899000	0.52679|0.52679	-1.417000|-1.417000	0.02464|0.02464	-0.420000|-0.420000	0.07427|0.07427	-0.459000|-0.459000	0.05422|0.05422	CCG|CGA		0.597	NBEAL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344363.3	XM_291064		13	15	0	0	0	1	0	13	15					T	47049880	C	T	47049880	2	4	435	1	0	0	0	0	0	0	0	1	10189	639	23	2		2	NBEAL2	3	47049880	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	245	47049880	150972550	1772	22697											
SETD2	29072	broad.mit.edu	37	chr3	47125634	47125634	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cacttataattttcagtctgCgaaacattagtttcttggga	11	16	7	7	1	3	0	1	0	2	0	3	2	3	1	0	1	2	1	0	1	4	7			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:47125634C>T	ENST00000409792.3	-	12	5678	c.5636G>A	c.(5635-5637)cGc>cAc	p.R1879H	SETD2_ENST00000492397.1_5'Flank	NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2	1879					angiogenesis (GO:0001525)|cell migration involved in vasculogenesis (GO:0035441)|coronary vasculature morphogenesis (GO:0060977)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic placenta morphogenesis (GO:0060669)|forebrain development (GO:0030900)|histone H3-K36 trimethylation (GO:0097198)|mesoderm morphogenesis (GO:0048332)|mismatch repair (GO:0006298)|morphogenesis of a branching structure (GO:0001763)|neural tube closure (GO:0001843)|nucleosome organization (GO:0034728)|pericardium development (GO:0060039)|regulation of mRNA export from nucleus (GO:0010793)|regulation of transcription, DNA-templated (GO:0006355)|stem cell development (GO:0048864)|transcription elongation from RNA polymerase II promoter (GO:0006368)	chromosome (GO:0005694)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)			breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		TTTCAGTCTGCGAAACATTAG	0.443			"N, F, S, Mis"		clear cell renal carcinoma																																	ENST00000409792.3				Rec	yes		3	3p21.31	29072	"N, F, S, Mis"	SET domain containing 2			E			clear cell renal carcinoma		0				breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141						c.(5635-5637)cGc>cAc		SET domain containing 2							183	177	179					3																	47125634		2203	4300	6503	SO:0001583	missense	29072				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding	g.chr3:47125634C>T	AJ238403	CCDS2749.2	3p21.31	2014-09-17			ENSG00000181555	ENSG00000181555		"Chromatin-modifying enzymes / K-methyltransferases"	18420	protein-coding gene	gene with protein product		612778				16118227, 11461154	Standard	NM_014159		Approved	HYPB, HIF-1, KIAA1732, FLJ23184, KMT3A	uc003cqs.3	Q9BYW2	OTTHUMG00000133514	ENST00000409792.3:c.5636G>A	3.37:g.47125634C>T	ENSP00000386759:p.Arg1879His						p.R1879H	NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)	12	5678	-		Acute lymphoblastic leukemia(5;0.0169)	1879					O75397|O75405|Q17RW8|Q5BKS9|Q5QGN2|Q69YI5|Q6IN64|Q6ZN53|Q6ZS25|Q8N3R0|Q8TCN0|Q9C0D1|Q9H696|Q9NZW9	Missense_Mutation	SNP	ENST00000409792.3	37	c.5636G>A	CCDS2749.2	.	.	.	.	.	.	.	.	.	.	C	21.8	4.199606	0.79015	.	.	ENSG00000181555	ENST00000451092;ENST00000409792	T	0.24350	1.86	5.29	4.41	0.53225	.	0.000000	0.56097	D	0.000026	T	0.46034	0.1372	L	0.50333	1.59	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.79784	0.993;0.993	T	0.47995	-0.9073	10	0.72032	D	0.01	.	16.2841	0.82710	0.0:0.8673:0.1327:0.0	.	1879;1879	F2Z317;Q9BYW2	.;SETD2_HUMAN	H	1879	ENSP00000386759:R1879H	ENSP00000386759:R1879H	R	-	2	0	SETD2	47100638	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.523000	0.60545	1.339000	0.45563	0.650000	0.86243	CGC		0.443	SETD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257479.2	NM_014159		57	77	0	0	0	1	0	57	77					T	47125634	C	T	47125634	3	4	435	1	0	0	0	0	1	0	0	0	14131	768	27	1	2098	1	SETD2	3	47125634	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	75754	47125634	150896796	1773	22698											
SCAP	22937	broad.mit.edu	37	chr3	47455371	47455371	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcttctccagcacagagggCacatacaccaggctgagctc	11	6	10	14	0	1	2	0	1	1	1	3	2	1	2	2	2	4	5	2	2	1	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:47455371C>T	ENST00000265565.5	-	23	4225	c.3813G>A	c.(3811-3813)gtG>gtA	p.V1271V	SCAP_ENST00000441517.2_Silent_p.V1015V|SCAP_ENST00000545718.1_Silent_p.V878V	NM_012235.2	NP_036367.2	Q12770	SCAP_HUMAN	SREBF chaperone	1271	Interaction with SREBF2. {ECO:0000250}.				aging (GO:0007568)|cholesterol metabolic process (GO:0008203)|negative regulation of cholesterol biosynthetic process (GO:0045541)|positive regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045716)|regulation of fatty acid biosynthetic process (GO:0042304)|response to hypoxia (GO:0001666)|response to insulin (GO:0032868)|small molecule metabolic process (GO:0044281)|SREBP signaling pathway (GO:0032933)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|protein complex (GO:0043234)	unfolded protein binding (GO:0051082)			endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	26				BRCA - Breast invasive adenocarcinoma(193;0.000278)|KIRC - Kidney renal clear cell carcinoma(197;0.00592)|Kidney(197;0.00679)		GCACAGAGGGCACATACACCA	0.627																																					Pancreas(149;978 1908 29304 37806 46700)	ENST00000265565.5																			0				endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	26						c.(3811-3813)gtG>gtA		SREBF chaperone							137	141	140					3																	47455371		2203	4300	6503	SO:0001819	synonymous_variant	22937				cholesterol metabolic process|negative regulation of cholesterol biosynthetic process|positive regulation of low-density lipoprotein particle receptor biosynthetic process|positive regulation of transcription via sterol regulatory element binding involved in ER-nuclear sterol response pathway	endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Golgi membrane|integral to membrane	unfolded protein binding	g.chr3:47455371C>T	BC020987	CCDS2755.2	3p21.31	2013-01-10			ENSG00000114650	ENSG00000114650		"WD repeat domain containing"	30634	protein-coding gene	gene with protein product	"SREBP cleavage activating protein"	601510				8898195, 8724849, 10570913	Standard	XM_005264967		Approved	KIAA0199	uc003crh.1	Q12770	OTTHUMG00000125539	ENST00000265565.5:c.3813G>A	3.37:g.47455371C>T						SCAP_ENST00000441517.2_Silent_p.V1015V|SCAP_ENST00000545718.1_Silent_p.V878V	p.V1271V	NM_012235.2	NP_036367.2	Q12770	SCAP_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000278)|KIRC - Kidney renal clear cell carcinoma(197;0.00592)|Kidney(197;0.00679)	23	4225	-			1271			Interaction with SREBF2 (By similarity).		Q8N2E0|Q8WUA1	Silent	SNP	ENST00000265565.5	37	c.3813G>A	CCDS2755.2																																																																																				0.627	SCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246872.2	NM_012235		54	82	0	0	0	1	0	54	82					T	47455371	C	T	47455371	2	4	435	1	0	0	0	0	0	0	0	1	13877	697	25	3		3	SCAP	3	47455371	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	329737	47455371	150567059	1774	22699											
SCAP	22937	broad.mit.edu	37	chr3	47458688	47458688	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcacagcaccccttcaatggCgtcccacacctacgagtcca	10	6	7	18	2	1	0	1	0	0	0	3	1	3	0	5	1	2	2	5	1	2	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:47458688C>T	ENST00000265565.5	-	18	3392	c.2980G>A	c.(2980-2982)Gcc>Acc	p.A994T	SCAP_ENST00000441517.2_Missense_Mutation_p.A738T|SCAP_ENST00000545718.1_Missense_Mutation_p.A601T	NM_012235.2	NP_036367.2	Q12770	SCAP_HUMAN	SREBF chaperone	994	Interaction with SREBF2. {ECO:0000250}.			A -> S (in Ref. 6; BAC11673). {ECO:0000305}.	aging (GO:0007568)|cholesterol metabolic process (GO:0008203)|negative regulation of cholesterol biosynthetic process (GO:0045541)|positive regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045716)|regulation of fatty acid biosynthetic process (GO:0042304)|response to hypoxia (GO:0001666)|response to insulin (GO:0032868)|small molecule metabolic process (GO:0044281)|SREBP signaling pathway (GO:0032933)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|protein complex (GO:0043234)	unfolded protein binding (GO:0051082)			endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	26				BRCA - Breast invasive adenocarcinoma(193;0.000278)|KIRC - Kidney renal clear cell carcinoma(197;0.00592)|Kidney(197;0.00679)		CCTTCAATGGCGTCCCACACC	0.637																																					Pancreas(149;978 1908 29304 37806 46700)	ENST00000265565.5																			0				endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	26						c.(2980-2982)Gcc>Acc		SREBF chaperone							81	64	70					3																	47458688		2203	4300	6503	SO:0001583	missense	22937				cholesterol metabolic process|negative regulation of cholesterol biosynthetic process|positive regulation of low-density lipoprotein particle receptor biosynthetic process|positive regulation of transcription via sterol regulatory element binding involved in ER-nuclear sterol response pathway	endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Golgi membrane|integral to membrane	unfolded protein binding	g.chr3:47458688C>T	BC020987	CCDS2755.2	3p21.31	2013-01-10			ENSG00000114650	ENSG00000114650		"WD repeat domain containing"	30634	protein-coding gene	gene with protein product	"SREBP cleavage activating protein"	601510				8898195, 8724849, 10570913	Standard	XM_005264967		Approved	KIAA0199	uc003crh.1	Q12770	OTTHUMG00000125539	ENST00000265565.5:c.2980G>A	3.37:g.47458688C>T	ENSP00000265565:p.Ala994Thr					SCAP_ENST00000441517.2_Missense_Mutation_p.A738T|SCAP_ENST00000545718.1_Missense_Mutation_p.A601T	p.A994T	NM_012235.2	NP_036367.2	Q12770	SCAP_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000278)|KIRC - Kidney renal clear cell carcinoma(197;0.00592)|Kidney(197;0.00679)	18	3392	-			994	A -> S (in Ref. 6; BAC11673).		Interaction with SREBF2 (By similarity).		Q8N2E0|Q8WUA1	Missense_Mutation	SNP	ENST00000265565.5	37	c.2980G>A	CCDS2755.2	.	.	.	.	.	.	.	.	.	.	C	28.9	4.962919	0.92791	.	.	ENSG00000114650	ENST00000339815;ENST00000360832;ENST00000265565;ENST00000441517;ENST00000545718	T;T;T	0.42131	1.62;2.23;0.98	4.74	4.74	0.60224	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.115945	0.64402	D	0.000019	T	0.38532	0.1044	L	0.29908	0.895	0.80722	D	1	D;D	0.62365	0.991;0.99	P;P	0.46543	0.477;0.52	T	0.16217	-1.0410	10	0.35671	T	0.21	-31.5839	17.5002	0.87728	0.0:1.0:0.0:0.0	.	738;994	F8W921;Q12770	.;SCAP_HUMAN	T	486;620;994;738;601	ENSP00000265565:A994T;ENSP00000416847:A738T;ENSP00000438956:A601T	ENSP00000265565:A994T	A	-	1	0	SCAP	47433692	1.000000	0.71417	0.999000	0.59377	0.837000	0.47467	5.431000	0.66507	2.466000	0.83321	0.561000	0.74099	GCC		0.637	SCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246872.2	NM_012235		5	10	0	0	0	1	0	5	10					T	47458688	C	T	47458688	3	4	435	1	0	0	0	0	1	0	0	0	13877	768	27	1	883	1	SCAP	3	47458688	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	3317	47458688	150563742	1775	22700											
CSPG5	10675	broad.mit.edu	37	chr3	47618849	47618849	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgggaagctccccagatctgCgccacgaccctcaccatcca	9	6	8	18	2	2	1	1	0	1	1	4	3	4	2	6	1	2	1	6	1	1	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:47618849C>T	ENST00000383738.2	-	2	2765	c.667G>A	c.(667-669)Gca>Aca	p.A223T	CSPG5_ENST00000264723.4_Missense_Mutation_p.A223T|CSPG5_ENST00000456150.1_Missense_Mutation_p.A85T|CSPG5_ENST00000465441.1_5'Flank	NM_001206943.1|NM_001206945.1	NP_001193872.1|NP_001193874.1	O95196	CSPG5_HUMAN	chondroitin sulfate proteoglycan 5 (neuroglycan C)	223					axon regeneration (GO:0031103)|carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glycosaminoglycan metabolic process (GO:0030203)|intracellular transport (GO:0046907)|nervous system development (GO:0007399)|regulation of growth (GO:0040008)|regulation of synaptic transmission (GO:0050804)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|Golgi lumen (GO:0005796)|Golgi-associated vesicle membrane (GO:0030660)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)	growth factor activity (GO:0008083)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|pancreas(1)|prostate(2)	22				BRCA - Breast invasive adenocarcinoma(193;0.000266)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		CCCAGATCTGCGCCACGACCC	0.557																																						ENST00000383738.2																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|pancreas(1)|prostate(2)	22						c.(667-669)Gca>Aca		chondroitin sulfate proteoglycan 5 (neuroglycan C)							44	45	45					3																	47618849		2203	4300	6503	SO:0001583	missense	10675				cell differentiation|intracellular transport|nervous system development|regulation of growth	endoplasmic reticulum membrane|Golgi-associated vesicle membrane|integral to plasma membrane|membrane fraction	growth factor activity	g.chr3:47618849C>T	AF059274	CCDS2757.1, CCDS56252.1, CCDS56253.1, CCDS74930.1	3p21.3	2008-07-18			ENSG00000114646	ENSG00000114646			2467	protein-coding gene	gene with protein product		606775				9950058	Standard	NM_006574		Approved	NGC	uc003crp.4	O95196	OTTHUMG00000133518	ENST00000383738.2:c.667G>A	3.37:g.47618849C>T	ENSP00000373244:p.Ala223Thr					CSPG5_ENST00000456150.1_Missense_Mutation_p.A85T|CSPG5_ENST00000264723.4_Missense_Mutation_p.A223T	p.A223T	NM_001206943.1|NM_001206945.1	NP_001193872.1|NP_001193874.1	O95196	CSPG5_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000266)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)	2	2765	-			223					Q71M39|Q71M40	Missense_Mutation	SNP	ENST00000383738.2	37	c.667G>A	CCDS56253.1	.	.	.	.	.	.	.	.	.	.	C	15.55	2.866045	0.51588	.	.	ENSG00000114646	ENST00000456150;ENST00000383738;ENST00000264723	T;T;T	0.43688	0.94;0.94;0.94	4.41	3.52	0.40303	Chondroitin sulphate attachment (1);	0.441528	0.22305	N	0.061812	T	0.23846	0.0577	N	0.14661	0.345	0.26519	N	0.974451	B;B	0.20368	0.044;0.035	B;B	0.17979	0.02;0.012	T	0.14227	-1.0480	10	0.22109	T	0.4	-8.8247	10.132	0.42685	0.0:0.9028:0.0:0.0972	.	223;223	O95196;O95196-2	CSPG5_HUMAN;.	T	85;223;223	ENSP00000392096:A85T;ENSP00000373244:A223T;ENSP00000264723:A223T	ENSP00000264723:A223T	A	-	1	0	CSPG5	47593853	0.000000	0.05858	0.915000	0.36163	0.996000	0.88848	0.319000	0.19522	1.162000	0.42619	0.643000	0.83706	GCA		0.557	CSPG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257489.1	NM_006574		5	13	0	0	0	1	0	5	13					T	47618849	C	T	47618849	3	4	435	1	0	0	0	0	1	0	0	0	3961	768	27	1	968	1	CSPG5	3	47618849	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	160161	47618849	150403581	1776	22701											
DHX30	22907	broad.mit.edu	37	chr3	47882389	47882389	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttggggtctgctaggtccccGgaatgagttgtttgacgcag	6	12	15	8	2	1	2	0	2	1	0	2	3	2	3	2	4	1	4	2	4	2	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:47882389G>A	ENST00000445061.1	+	7	796	c.389G>A	c.(388-390)cGg>cAg	p.R130Q	DHX30_ENST00000348968.4_Missense_Mutation_p.R102Q|DHX30_ENST00000446256.2_Missense_Mutation_p.R91Q|DHX30_ENST00000457607.1_Missense_Mutation_p.R158Q	NM_138615.2	NP_619520.1	Q7L2E3	DHX30_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 30	130						cytoplasm (GO:0005737)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|chromatin binding (GO:0003682)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)			endometrium(3)|kidney(1)|large_intestine(11)|lung(13)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	37				BRCA - Breast invasive adenocarcinoma(193;0.000696)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)		CTAGGTCCCCGGAATGAGTTG	0.577																																						ENST00000446256.2																			0				endometrium(3)|kidney(1)|large_intestine(11)|lung(13)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	37						c.(271-273)cGg>cAg		DEAH (Asp-Glu-Ala-His) box helicase 30							56	52	54					3																	47882389		2203	4300	6503	SO:0001583	missense	22907					mitochondrial nucleoid	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding	g.chr3:47882389G>A	AB020697	CCDS2759.1	3p24.3-p22.1	2013-07-16	2013-07-16	2003-06-13	ENSG00000132153	ENSG00000132153		"DEAH-boxes"	16716	protein-coding gene	gene with protein product			"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 30", "DEAH (Asp-Glu-Ala-His) box polypeptide 30"	DDX30		10048485, 18022663	Standard	NM_138615		Approved	KIAA0890, FLJ11214	uc003cru.3	Q7L2E3	OTTHUMG00000133522	ENST00000445061.1:c.389G>A	3.37:g.47882389G>A	ENSP00000405620:p.Arg130Gln					DHX30_ENST00000445061.1_Missense_Mutation_p.R130Q|DHX30_ENST00000348968.4_Missense_Mutation_p.R102Q|DHX30_ENST00000457607.1_Missense_Mutation_p.R158Q	p.R91Q	NM_014966.3	NP_055781.2	Q7L2E3	DHX30_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000696)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)	8	844	+			130			DRBM.		A8K5F1|O94965|Q7Z753|Q96CH4|Q9NUQ0	Missense_Mutation	SNP	ENST00000445061.1	37	c.272G>A	CCDS2759.1	.	.	.	.	.	.	.	.	.	.	G	17.96	3.517201	0.64634	.	.	ENSG00000132153	ENST00000446256;ENST00000445061;ENST00000348968;ENST00000457607	T;T;T;T	0.03212	4.03;4.02;4.03;4.01	4.89	4.02	0.46733	.	0.147478	0.44483	D	0.000445	T	0.03739	0.0106	L	0.34521	1.04	0.40368	D	0.979313	P;P;P	0.49862	0.929;0.792;0.885	B;B;B	0.40410	0.176;0.208;0.328	T	0.53244	-0.8466	10	0.52906	T	0.07	.	10.5484	0.45072	0.0895:0.0:0.9105:0.0	.	130;91;158	Q7L2E3;Q7L2E3-3;Q7L2E3-2	DHX30_HUMAN;.;.	Q	91;130;102;158	ENSP00000392601:R91Q;ENSP00000405620:R130Q;ENSP00000343442:R102Q;ENSP00000394682:R158Q	ENSP00000343442:R102Q	R	+	2	0	DHX30	47857393	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	4.278000	0.58946	1.047000	0.40274	0.655000	0.94253	CGG		0.577	DHX30-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257495.2	NM_138615		8	46	0	0	0	1	0	8	46					A	47882389	G	A	47882389	3	1	435	1	0	0	0	0	1	0	0	0	4504	1116	39	2	418	2	DHX30	3	47882389	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	263540	47882389	150140041	1777	22702											
DHX30	22907	broad.mit.edu	37	chr3	47888469	47888469	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttgggcaagcaccagtaccTgcaccggcaccggcaccatg	9	5	12	15	2	0	0	0	0	0	0	0	0	0	0	5	3	3	7	5	3	2	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:47888469T>G	ENST00000445061.1	+	11	2314	c.1907T>G	c.(1906-1908)cTg>cGg	p.L636R	DHX30_ENST00000348968.4_Missense_Mutation_p.L608R|DHX30_ENST00000446256.2_Missense_Mutation_p.L597R|DHX30_ENST00000457607.1_Missense_Mutation_p.L664R|MIR1226_ENST00000408658.1_RNA	NM_138615.2	NP_619520.1	Q7L2E3	DHX30_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 30	636						cytoplasm (GO:0005737)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|chromatin binding (GO:0003682)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)			endometrium(3)|kidney(1)|large_intestine(11)|lung(13)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	37				BRCA - Breast invasive adenocarcinoma(193;0.000696)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)		CACCAGTACCTGCACCGGCAC	0.632																																						ENST00000446256.2																			0				endometrium(3)|kidney(1)|large_intestine(11)|lung(13)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	37						c.(1789-1791)cTg>cGg		DEAH (Asp-Glu-Ala-His) box helicase 30							52	52	52					3																	47888469		2203	4300	6503	SO:0001583	missense	22907					mitochondrial nucleoid	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding	g.chr3:47888469T>G	AB020697	CCDS2759.1	3p24.3-p22.1	2013-07-16	2013-07-16	2003-06-13	ENSG00000132153	ENSG00000132153		"DEAH-boxes"	16716	protein-coding gene	gene with protein product			"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 30", "DEAH (Asp-Glu-Ala-His) box polypeptide 30"	DDX30		10048485, 18022663	Standard	NM_138615		Approved	KIAA0890, FLJ11214	uc003cru.3	Q7L2E3	OTTHUMG00000133522	ENST00000445061.1:c.1907T>G	3.37:g.47888469T>G	ENSP00000405620:p.Leu636Arg					DHX30_ENST00000445061.1_Missense_Mutation_p.L636R|DHX30_ENST00000348968.4_Missense_Mutation_p.L608R|DHX30_ENST00000457607.1_Missense_Mutation_p.L664R	p.L597R	NM_014966.3	NP_055781.2	Q7L2E3	DHX30_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000696)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)	12	2362	+			636			Helicase ATP-binding.		A8K5F1|O94965|Q7Z753|Q96CH4|Q9NUQ0	Missense_Mutation	SNP	ENST00000445061.1	37	c.1790T>G	CCDS2759.1	.	.	.	.	.	.	.	.	.	.	T	0.158	-1.084180	0.01888	.	.	ENSG00000132153	ENST00000446256;ENST00000445061;ENST00000348968;ENST00000457607	T;T;T;T	0.03553	3.9;3.89;3.9;3.9	3.32	2.42	0.29668	.	0.635768	0.15236	N	0.273154	T	0.01695	0.0054	N	0.08118	0	0.25938	N	0.982901	B;B	0.32010	0.351;0.01	B;B	0.24541	0.054;0.03	T	0.47586	-0.9106	10	0.12103	T	0.63	.	8.1277	0.31008	0.0:0.8702:0.0:0.1298	.	636;597	Q7L2E3;Q7L2E3-3	DHX30_HUMAN;.	R	597;636;608;664	ENSP00000392601:L597R;ENSP00000405620:L636R;ENSP00000343442:L608R;ENSP00000394682:L664R	ENSP00000343442:L608R	L	+	2	0	DHX30	47863473	0.858000	0.29795	0.824000	0.32777	0.687000	0.40016	1.377000	0.34317	0.926000	0.37118	-0.464000	0.05259	CTG		0.632	DHX30-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257495.2	NM_138615		13	22	0	0	0	1	0	13	22					G	47888469	T	G	47888469	3	3	435	1	0	0	0	0	1	0	0	0	4504	1580	55	5	1952	5	DHX30	3	47888469	Missense_Mutation	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	6080	47888469	150133961	1778	22703											
DHX30	22907	broad.mit.edu	37	chr3	47891423	47891423	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcggctggagggtgactcgcGtaccgtgcggctgctgaagg	5	7	19	10	5	0	2	0	2	0	0	1	3	0	3	1	5	3	4	1	5	2	1	rs200969824		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:47891423G>A	ENST00000445061.1	+	22	3805	c.3398G>A	c.(3397-3399)cGt>cAt	p.R1133H	DHX30_ENST00000348968.4_Missense_Mutation_p.R1105H|DHX30_ENST00000446256.2_Missense_Mutation_p.R1094H|DHX30_ENST00000457607.1_Missense_Mutation_p.R1161H|MIR1226_ENST00000408658.1_RNA	NM_138615.2	NP_619520.1	Q7L2E3	DHX30_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 30	1133						cytoplasm (GO:0005737)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|chromatin binding (GO:0003682)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)			endometrium(3)|kidney(1)|large_intestine(11)|lung(13)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	37				BRCA - Breast invasive adenocarcinoma(193;0.000696)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)		GGTGACTCGCGTACCGTGCGG	0.677											OREG0015550	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G|||	1	0.000199681	0	0	5008	,	,		15369	0.001		0	False		,,,				2504	0					ENST00000446256.2																			0				endometrium(3)|kidney(1)|large_intestine(11)|lung(13)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	37						c.(3280-3282)cGt>cAt		DEAH (Asp-Glu-Ala-His) box helicase 30							31	32	32					3																	47891423		2203	4300	6503	SO:0001583	missense	22907					mitochondrial nucleoid	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding	g.chr3:47891423G>A	AB020697	CCDS2759.1	3p24.3-p22.1	2013-07-16	2013-07-16	2003-06-13	ENSG00000132153	ENSG00000132153		"DEAH-boxes"	16716	protein-coding gene	gene with protein product			"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 30", "DEAH (Asp-Glu-Ala-His) box polypeptide 30"	DDX30		10048485, 18022663	Standard	NM_138615		Approved	KIAA0890, FLJ11214	uc003cru.3	Q7L2E3	OTTHUMG00000133522	ENST00000445061.1:c.3398G>A	3.37:g.47891423G>A	ENSP00000405620:p.Arg1133His		OREG0015550	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	950	DHX30_ENST00000445061.1_Missense_Mutation_p.R1133H|DHX30_ENST00000348968.4_Missense_Mutation_p.R1105H|DHX30_ENST00000457607.1_Missense_Mutation_p.R1161H	p.R1094H	NM_014966.3	NP_055781.2	Q7L2E3	DHX30_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000696)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)	23	3853	+			1133					A8K5F1|O94965|Q7Z753|Q96CH4|Q9NUQ0	Missense_Mutation	SNP	ENST00000445061.1	37	c.3281G>A	CCDS2759.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	13.57	2.275765	0.40294	.	.	ENSG00000132153	ENST00000446256;ENST00000445061;ENST00000348968;ENST00000457607	T;T;T;T	0.03607	3.87;3.87;3.87;3.87	5.0	1.73	0.24493	.	0.442993	0.24861	N	0.035020	T	0.04634	0.0126	N	0.19112	0.55	0.09310	N	1	P;D	0.56968	0.865;0.978	B;P	0.53809	0.124;0.735	T	0.40001	-0.9586	10	0.39692	T	0.17	.	8.5962	0.33716	0.3646:0.0:0.6354:0.0	.	1133;1094	Q7L2E3;Q7L2E3-3	DHX30_HUMAN;.	H	1094;1133;1105;1161	ENSP00000392601:R1094H;ENSP00000405620:R1133H;ENSP00000343442:R1105H;ENSP00000394682:R1161H	ENSP00000343442:R1105H	R	+	2	0	DHX30	47866427	0.972000	0.33761	0.047000	0.18901	0.606000	0.37113	2.985000	0.49362	0.513000	0.28278	0.462000	0.41574	CGT		0.677	DHX30-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257495.2	NM_138615		7	23	0	0	0	1	0	7	23					A	47891423	G	A	47891423	3	1	435	1	0	0	0	0	1	0	0	0	4504	1145	40	1	3487	1	DHX30	3	47891423	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	2954	47891423	150131007	1779	22704											
MAP4	4134	broad.mit.edu	37	chr3	47912426	47912426	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cggggggtggtggagctgggTttggccgaggtgggcttctt	2	11	22	6	2	1	0	0	0	1	0	1	2	1	1	1	9	1	3	1	9	0	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:47912426T>C	ENST00000360240.6	-	13	3254	c.2736A>G	c.(2734-2736)aaA>aaG	p.K912K	MAP4_ENST00000264724.11_Silent_p.K647K|MAP4_ENST00000395734.3_Silent_p.K912K|MAP4_ENST00000441748.2_Silent_p.K64K|MAP4_ENST00000426837.2_Silent_p.K2057K|MAP4_ENST00000383737.4_Silent_p.K640K|MAP4_ENST00000420772.2_Silent_p.K643K|MAP4_ENST00000462206.1_5'Flank	NM_002375.4	NP_002366.2	P27816	MAP4_HUMAN	microtubule-associated protein 4	912					cell division (GO:0051301)|establishment of spindle orientation (GO:0051294)|microtubule sliding (GO:0051012)|mitotic spindle organization (GO:0007052)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|microtubule cytoskeleton (GO:0015630)|mitotic spindle (GO:0072686)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|structural molecule activity (GO:0005198)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(2)	32				BRCA - Breast invasive adenocarcinoma(193;0.000721)|KIRC - Kidney renal clear cell carcinoma(197;0.00641)|Kidney(197;0.00736)	Docetaxel(DB01248)|Paclitaxel(DB01229)	TGGAGCTGGGTTTGGCCGAGG	0.622																																						ENST00000426837.2																			0				breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(2)	32						c.(6169-6171)aaA>aaG		microtubule-associated protein 4							65	72	70					3																	47912426		2203	4300	6503	SO:0001819	synonymous_variant	4134				negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity	g.chr3:47912426T>C		CCDS33750.1, CCDS46818.1, CCDS46821.1	3p21	2008-07-18			ENSG00000047849	ENSG00000047849			6862	protein-coding gene	gene with protein product		157132				1905296	Standard	NM_002375		Approved		uc003csb.2	P27816	OTTHUMG00000156828	ENST00000360240.6:c.2736A>G	3.37:g.47912426T>C						MAP4_ENST00000420772.2_Silent_p.K643K|MAP4_ENST00000395734.3_Silent_p.K912K|MAP4_ENST00000264724.11_Silent_p.K647K|MAP4_ENST00000383737.4_Silent_p.K640K|MAP4_ENST00000360240.6_Silent_p.K912K|MAP4_ENST00000441748.2_Silent_p.K64K	p.K2057K			P27816	MAP4_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000721)|KIRC - Kidney renal clear cell carcinoma(197;0.00641)|Kidney(197;0.00736)	15	6258	-			912					Q13082|Q59FT2|Q68D74|Q6ZUW9|Q86V26|Q96A76|Q96NS9	Silent	SNP	ENST00000360240.6	37	c.6171A>G	CCDS33750.1	.	.	.	.	.	.	.	.	.	.	T	6.976	0.550034	0.13374	.	.	ENSG00000047849	ENST00000429422	.	.	.	5.13	2.17	0.27698	.	.	.	.	.	T	0.46347	0.1388	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.32134	-0.9918	4	.	.	.	-6.5731	3.6604	0.08237	0.0:0.4026:0.1853:0.4121	.	.	.	.	A	323	.	.	T	-	1	0	MAP4	47887430	0.986000	0.35501	0.998000	0.56505	0.652000	0.38707	0.382000	0.20635	0.759000	0.33084	-0.763000	0.03452	ACC		0.622	MAP4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000346085.1	NM_002375		14	50	0	0	0	1	0	14	50					C	47912426	T	C	47912426	2	2	435	1	0	0	0	0	0	0	0	1	9258	1722	60	4		4	MAP4	3	47912426	Silent	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	21003	47912426	150110004	1780	22705											
CDC25A	993	broad.mit.edu	37	chr3	48200534	48200534	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcaggtcttctttaaagtcCtcgtggtgcatgggccggta	6	14	12	9	2	3	0	1	0	2	0	5	0	4	0	2	4	1	2	2	4	3	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:48200534C>T	ENST00000302506.3	-	15	1884	c.1476G>A	c.(1474-1476)gaG>gaA	p.E492E	CDC25A_ENST00000351231.3_Silent_p.E452E	NM_001789.2	NP_001780.2	P30304	MPIP1_HUMAN	cell division cycle 25A	492					cell proliferation (GO:0008283)|cellular response to UV (GO:0034644)|DNA replication (GO:0006260)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|regulation of cell cycle (GO:0051726)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|response to radiation (GO:0009314)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(9)|prostate(1)|skin(1)	20				BRCA - Breast invasive adenocarcinoma(193;0.000685)|KIRC - Kidney renal clear cell carcinoma(197;0.00596)|Kidney(197;0.00684)		CTTTAAAGTCCTCGTGGTGCA	0.552																																						ENST00000302506.3																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(9)|prostate(1)|skin(1)	20						c.(1474-1476)gaG>gaA		cell division cycle 25A							75	74	74					3																	48200534		2203	4300	6503	SO:0001819	synonymous_variant	993				cell cycle checkpoint|cell division|cell proliferation|cellular response to UV|DNA replication|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|mitosis|regulation of cyclin-dependent protein kinase activity|S phase of mitotic cell cycle	cytosol|nucleoplasm	protein binding|protein tyrosine phosphatase activity	g.chr3:48200534C>T	M81933	CCDS2760.1, CCDS2761.1	3p21	2013-01-17	2013-01-17		ENSG00000164045	ENSG00000164045		"Protein tyrosine phosphatases / Class III Cys-based PTPs"	1725	protein-coding gene	gene with protein product		116947	"cell division cycle 25A", "cell division cycle 25 homolog A (S. cerevisiae)", "cell division cycle 25 homolog A (S. pombe)"			1836978	Standard	NM_001789		Approved		uc003csh.1	P30304	OTTHUMG00000133535	ENST00000302506.3:c.1476G>A	3.37:g.48200534C>T						CDC25A_ENST00000351231.3_Silent_p.E452E	p.E492E	NM_001789.2	NP_001780.2	P30304	MPIP1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000685)|KIRC - Kidney renal clear cell carcinoma(197;0.00596)|Kidney(197;0.00684)	15	1884	-			492					Q8IZH5|Q96IL3|Q9H2F2	Silent	SNP	ENST00000302506.3	37	c.1476G>A	CCDS2760.1																																																																																				0.552	CDC25A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257512.2	NM_001789		13	17	0	0	0	1	0	13	17					T	48200534	C	T	48200534	2	4	435	1	0	0	0	0	0	0	0	1	3062	680	24	3		3	CDC25A	3	48200534	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	288108	48200534	149821896	1781	22706											
CDC25A	993	broad.mit.edu	37	chr3	48200940	48200940	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gatctctctctctcacatacCggcacctagtcaggggaagg	9	9	10	13	1	4	0	2	0	3	0	7	2	4	1	2	4	1	1	2	4	3	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:48200940C>T	ENST00000302506.3	-	14	1736	c.1328G>A	c.(1327-1329)cGg>cAg	p.R443Q	CDC25A_ENST00000351231.3_Missense_Mutation_p.R403Q	NM_001789.2	NP_001780.2	P30304	MPIP1_HUMAN	cell division cycle 25A	443	Rhodanese. {ECO:0000255|PROSITE- ProRule:PRU00173}.				cell proliferation (GO:0008283)|cellular response to UV (GO:0034644)|DNA replication (GO:0006260)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|regulation of cell cycle (GO:0051726)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|response to radiation (GO:0009314)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(9)|prostate(1)|skin(1)	20				BRCA - Breast invasive adenocarcinoma(193;0.000685)|KIRC - Kidney renal clear cell carcinoma(197;0.00596)|Kidney(197;0.00684)		TCTCACATACCGGCACCTAGT	0.512																																						ENST00000302506.3																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(9)|prostate(1)|skin(1)	20						c.(1327-1329)cGg>cAg		cell division cycle 25A							84	71	76					3																	48200940		2203	4300	6503	SO:0001583	missense	993				cell cycle checkpoint|cell division|cell proliferation|cellular response to UV|DNA replication|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|mitosis|regulation of cyclin-dependent protein kinase activity|S phase of mitotic cell cycle	cytosol|nucleoplasm	protein binding|protein tyrosine phosphatase activity	g.chr3:48200940C>T	M81933	CCDS2760.1, CCDS2761.1	3p21	2013-01-17	2013-01-17		ENSG00000164045	ENSG00000164045		"Protein tyrosine phosphatases / Class III Cys-based PTPs"	1725	protein-coding gene	gene with protein product		116947	"cell division cycle 25A", "cell division cycle 25 homolog A (S. cerevisiae)", "cell division cycle 25 homolog A (S. pombe)"			1836978	Standard	NM_001789		Approved		uc003csh.1	P30304	OTTHUMG00000133535	ENST00000302506.3:c.1328G>A	3.37:g.48200940C>T	ENSP00000303706:p.Arg443Gln					CDC25A_ENST00000351231.3_Missense_Mutation_p.R403Q	p.R443Q	NM_001789.2	NP_001780.2	P30304	MPIP1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000685)|KIRC - Kidney renal clear cell carcinoma(197;0.00596)|Kidney(197;0.00684)	14	1736	-			443			Rhodanese.		Q8IZH5|Q96IL3|Q9H2F2	Missense_Mutation	SNP	ENST00000302506.3	37	c.1328G>A	CCDS2760.1	.	.	.	.	.	.	.	.	.	.	C	35	5.422820	0.96111	.	.	ENSG00000164045	ENST00000302506;ENST00000351231	T;T	0.25414	1.8;1.8	5.76	5.76	0.90799	Rhodanese-like (5);	0.174595	0.51477	D	0.000100	T	0.48077	0.1480	L	0.58302	1.8	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.66847	0.912;0.947	T	0.41197	-0.9522	10	0.87932	D	0	.	17.4698	0.87642	0.0:1.0:0.0:0.0	.	403;443	P30304-2;P30304	.;MPIP1_HUMAN	Q	443;403	ENSP00000303706:R443Q;ENSP00000343166:R403Q	ENSP00000303706:R443Q	R	-	2	0	CDC25A	48175944	1.000000	0.71417	0.993000	0.49108	0.754000	0.42855	5.525000	0.67110	2.713000	0.92767	0.655000	0.94253	CGG		0.512	CDC25A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257512.2	NM_001789		21	30	0	0	0	1	0	21	30					T	48200940	C	T	48200940	3	4	435	1	0	0	0	0	1	0	0	0	3062	652	23	2	254	2	CDC25A	3	48200940	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	406	48200940	149821490	1782	22707											
CDC25A	993	broad.mit.edu	37	chr3	48219456	48219456	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgaaattccctggttcactgCtatctctttcatttgaggaa	9	16	7	9	0	3	2	2	2	1	0	5	3	4	3	1	2	1	2	1	2	3	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:48219456C>T	ENST00000302506.3	-	7	980	c.572G>A	c.(571-573)aGc>aAc	p.S191N	RNU7-128P_ENST00000517247.1_RNA|CDC25A_ENST00000351231.3_Missense_Mutation_p.S151N	NM_001789.2	NP_001780.2	P30304	MPIP1_HUMAN	cell division cycle 25A	191					cell proliferation (GO:0008283)|cellular response to UV (GO:0034644)|DNA replication (GO:0006260)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|regulation of cell cycle (GO:0051726)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|response to radiation (GO:0009314)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(9)|prostate(1)|skin(1)	20				BRCA - Breast invasive adenocarcinoma(193;0.000685)|KIRC - Kidney renal clear cell carcinoma(197;0.00596)|Kidney(197;0.00684)		TGGTTCACTGCTATCTCTTTC	0.413																																						ENST00000302506.3																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(9)|prostate(1)|skin(1)	20						c.(571-573)aGc>aAc		cell division cycle 25A							126	131	129					3																	48219456		2203	4300	6503	SO:0001583	missense	993				cell cycle checkpoint|cell division|cell proliferation|cellular response to UV|DNA replication|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|mitosis|regulation of cyclin-dependent protein kinase activity|S phase of mitotic cell cycle	cytosol|nucleoplasm	protein binding|protein tyrosine phosphatase activity	g.chr3:48219456C>T	M81933	CCDS2760.1, CCDS2761.1	3p21	2013-01-17	2013-01-17		ENSG00000164045	ENSG00000164045		"Protein tyrosine phosphatases / Class III Cys-based PTPs"	1725	protein-coding gene	gene with protein product		116947	"cell division cycle 25A", "cell division cycle 25 homolog A (S. cerevisiae)", "cell division cycle 25 homolog A (S. pombe)"			1836978	Standard	NM_001789		Approved		uc003csh.1	P30304	OTTHUMG00000133535	ENST00000302506.3:c.572G>A	3.37:g.48219456C>T	ENSP00000303706:p.Ser191Asn					CDC25A_ENST00000351231.3_Missense_Mutation_p.S151N	p.S191N	NM_001789.2	NP_001780.2	P30304	MPIP1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000685)|KIRC - Kidney renal clear cell carcinoma(197;0.00596)|Kidney(197;0.00684)	7	980	-			191					Q8IZH5|Q96IL3|Q9H2F2	Missense_Mutation	SNP	ENST00000302506.3	37	c.572G>A	CCDS2760.1	.	.	.	.	.	.	.	.	.	.	C	1.393	-0.580258	0.03854	.	.	ENSG00000164045	ENST00000302506;ENST00000351231;ENST00000443342	T;T;T	0.20463	2.07;2.07;2.07	5.32	-1.49	0.08718	.	1.207920	0.05269	N	0.517200	T	0.07773	0.0195	N	0.04959	-0.14	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.08055	0.002;0.003	T	0.30679	-0.9970	10	0.13108	T	0.6	.	1.1936	0.01870	0.1403:0.3322:0.2744:0.253	.	151;191	P30304-2;P30304	.;MPIP1_HUMAN	N	191;151;190	ENSP00000303706:S191N;ENSP00000343166:S151N;ENSP00000416483:S190N	ENSP00000303706:S191N	S	-	2	0	CDC25A	48194460	0.000000	0.05858	0.003000	0.11579	0.315000	0.28087	-1.870000	0.01641	-0.036000	0.13669	-0.143000	0.13931	AGC		0.413	CDC25A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257512.2	NM_001789		4	126	0	0	0	1	0	4	126					T	48219456	C	T	48219456	3	4	435	1	0	0	0	0	1	0	0	0	3062	797	28	3	1038	3	CDC25A	3	48219456	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	18516	48219456	149802974	1783	22708											
FBXW12	285231	broad.mit.edu	37	chr3	48414814	48414814	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atagcattggaataggattgCagacagtgattacctgtgga	13	11	12	5	0	0	2	0	1	0	1	0	5	0	5	1	3	3	2	1	3	4	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:48414814C>T	ENST00000296438.5	+	3	293	c.107C>T	c.(106-108)gCa>gTa	p.A36V	FBXW12_ENST00000445170.1_Missense_Mutation_p.A17V|FBXW12_ENST00000415155.1_Missense_Mutation_p.A36V|FBXW12_ENST00000436231.1_Intron	NM_207102.2	NP_996985.2	Q6X9E4	FBW12_HUMAN	F-box and WD repeat domain containing 12	36	F-box. {ECO:0000255|PROSITE- ProRule:PRU00080}.									breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		AATAGGATTGCAGACAGTGAT	0.502																																						ENST00000296438.5																			0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						c.(106-108)gCa>gTa		F-box and WD repeat domain containing 12							202	200	201					3																	48414814		2203	4300	6503	SO:0001583	missense	285231							g.chr3:48414814C>T	AK097594, AY247969	CCDS2764.1, CCDS54577.1, CCDS54578.1	3p21.31	2011-07-01	2007-02-08	2004-07-21	ENSG00000164049	ENSG00000164049		"F-boxes / WD-40 domains", "WD repeat domain containing"	20729	protein-coding gene	gene with protein product		609075	"F-box only protein 35", "F-box and WD-40 domain protein 12"	FBXO35		15040455	Standard	NM_207102		Approved	Fbw12	uc010hjv.3	Q6X9E4	OTTHUMG00000133530	ENST00000296438.5:c.107C>T	3.37:g.48414814C>T	ENSP00000296438:p.Ala36Val					FBXW12_ENST00000445170.1_Missense_Mutation_p.A17V|FBXW12_ENST00000415155.1_Missense_Mutation_p.A36V|FBXW12_ENST00000436231.1_Intron	p.A36V	NM_207102.2	NP_996985.2	Q6X9E4	FBW12_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)	3	293	+			36			F-box.		E9PG36|Q494Y9|Q494Z0	Missense_Mutation	SNP	ENST00000296438.5	37	c.107C>T	CCDS2764.1	.	.	.	.	.	.	.	.	.	.	C	16.70	3.195385	0.58126	.	.	ENSG00000164049	ENST00000296438;ENST00000445170;ENST00000415155	T;T;T	0.55930	0.49;1.88;0.49	2.82	2.82	0.32997	F-box domain, cyclin-like (2);F-box domain, Skp2-like (1);	0.068752	0.56097	D	0.000024	T	0.71091	0.3299	M	0.85859	2.78	0.19775	N	0.999952	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.998;0.999;0.999	T	0.60198	-0.7310	10	0.87932	D	0	.	9.3222	0.37971	0.0:1.0:0.0:0.0	.	17;36;36	E9PG36;Q494Z0;Q6X9E4	.;.;FBW12_HUMAN	V	36;17;36	ENSP00000296438:A36V;ENSP00000406139:A17V;ENSP00000414683:A36V	ENSP00000296438:A36V	A	+	2	0	FBXW12	48389818	0.083000	0.21467	0.374000	0.26016	0.133000	0.20885	2.261000	0.43276	1.895000	0.54865	0.460000	0.39030	GCA		0.502	FBXW12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257505.1	NM_207102		32	50	0	0	0	1	0	32	50					T	48414814	C	T	48414814	3	4	435	1	0	0	0	0	1	0	0	0	5765	710	25	3	150	3	FBXW12	3	48414814	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	195358	48414814	149607616	1784	22709											
PLXNB1	5364	broad.mit.edu	37	chr3	48457572	48457572	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggaagatggaatggaccttcGgatcctgtgggacagacagg	11	7	16	7	1	0	2	0	0	0	2	2	7	1	7	2	6	0	0	2	6	2	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:48457572G>A	ENST00000358536.4	-	18	3754	c.3485C>T	c.(3484-3486)cCg>cTg	p.P1162L	PLXNB1_ENST00000448774.2_Intron|PLXNB1_ENST00000465117.1_5'Flank|PLXNB1_ENST00000358459.4_Missense_Mutation_p.P979L|PLXNB1_ENST00000456774.1_Missense_Mutation_p.P979L|PLXNB1_ENST00000296440.6_Missense_Mutation_p.P1162L	NM_002673.4	NP_002664.2	O43157	PLXB1_HUMAN	plexin B1	1162	IPT/TIG 2.				axon guidance (GO:0007411)|cell migration (GO:0016477)|intracellular signal transduction (GO:0035556)|negative regulation of cell adhesion (GO:0007162)|negative regulation of osteoblast proliferation (GO:0033689)|neuron projection morphogenesis (GO:0048812)|ossification involved in bone maturation (GO:0043931)|positive regulation of axonogenesis (GO:0050772)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell shape (GO:0008360)|regulation of cytoskeleton organization (GO:0051493)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in bone trabecula morphogenesis (GO:1900220)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	GTPase activating protein binding (GO:0032794)|receptor activity (GO:0004872)|semaphorin receptor activity (GO:0017154)|semaphorin receptor binding (GO:0030215)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		ATGGACCTTCGGATCCTGTGG	0.647																																						ENST00000358536.4																			0				NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47						c.(3484-3486)cCg>cTg		plexin B1							20	21	20					3																	48457572		2195	4296	6491	SO:0001583	missense	5364				axon guidance|cell migration|intracellular signal transduction|regulation of cell shape|regulation of cytoskeleton organization|regulation of small GTPase mediated signal transduction|semaphorin-plexin signaling pathway	extracellular region|integral to plasma membrane|intracellular|semaphorin receptor complex	GTPase activator activity|semaphorin receptor activity|semaphorin receptor binding	g.chr3:48457572G>A	X87904	CCDS2765.1	3p21.31	2008-07-18			ENSG00000164050	ENSG00000164050		"Plexins"	9103	protein-coding gene	gene with protein product		601053		PLXN5		8570614, 11035813	Standard	XM_005265234		Approved	SEP, KIAA0407	uc003csw.2	O43157	OTTHUMG00000133527	ENST00000358536.4:c.3485C>T	3.37:g.48457572G>A	ENSP00000351338:p.Pro1162Leu					PLXNB1_ENST00000358459.4_Missense_Mutation_p.P979L|PLXNB1_ENST00000296440.6_Missense_Mutation_p.P1162L|PLXNB1_ENST00000448774.2_Intron|PLXNB1_ENST00000456774.1_Missense_Mutation_p.P979L	p.P1162L	NM_002673.4	NP_002664.2	O43157	PLXB1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)	18	3754	-			1162			IPT/TIG 2.		A6H8Y2|Q6NY20|Q9UIV7|Q9UJ92|Q9UJ93	Missense_Mutation	SNP	ENST00000358536.4	37	c.3485C>T	CCDS2765.1	.	.	.	.	.	.	.	.	.	.	G	26.2	4.712158	0.89112	.	.	ENSG00000164050	ENST00000296440;ENST00000358459;ENST00000358536;ENST00000456774	D;D;D;D	0.84516	-1.86;-1.86;-1.86;-1.86	5.54	4.66	0.58398	Cell surface receptor IPT/TIG (2);Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.278717	0.34435	N	0.003970	D	0.92691	0.7677	H	0.94264	3.515	0.80722	D	1	D;D	0.59357	0.985;0.962	P;P	0.54460	0.753;0.534	D	0.94270	0.7510	10	0.62326	D	0.03	.	15.3718	0.74570	0.0:0.14:0.8599:0.0	.	1162;979	O43157;O43157-2	PLXB1_HUMAN;.	L	1162;979;1162;979	ENSP00000296440:P1162L;ENSP00000351242:P979L;ENSP00000351338:P1162L;ENSP00000414199:P979L	ENSP00000296440:P1162L	P	-	2	0	PLXNB1	48432576	1.000000	0.71417	0.285000	0.24819	0.272000	0.26649	8.643000	0.91040	1.306000	0.44926	0.313000	0.20887	CCG		0.647	PLXNB1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344454.1	NM_002673		3	6	0	0	0	1	0	3	6					A	48457572	G	A	48457572	3	1	435	1	0	0	0	0	1	0	0	0	12123	1116	39	2	3006	2	PLXNB1	3	48457572	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	42758	48457572	149564858	1785	22710											
PLXNB1	5364	broad.mit.edu	37	chr3	48461154	48461154	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgtccgcctcgggcagctcGccgccttctctcgtgagcca	3	9	11	18	6	1	1	0	1	1	0	7	1	2	1	5	1	2	2	5	1	0	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:48461154G>A	ENST00000358536.4	-	11	2810	c.2541C>T	c.(2539-2541)ggC>ggT	p.G847G	PLXNB1_ENST00000448774.2_Intron|PLXNB1_ENST00000358459.4_Intron|PLXNB1_ENST00000456774.1_Intron|PLXNB1_ENST00000296440.6_Silent_p.G847G	NM_002673.4	NP_002664.2	O43157	PLXB1_HUMAN	plexin B1	847					axon guidance (GO:0007411)|cell migration (GO:0016477)|intracellular signal transduction (GO:0035556)|negative regulation of cell adhesion (GO:0007162)|negative regulation of osteoblast proliferation (GO:0033689)|neuron projection morphogenesis (GO:0048812)|ossification involved in bone maturation (GO:0043931)|positive regulation of axonogenesis (GO:0050772)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell shape (GO:0008360)|regulation of cytoskeleton organization (GO:0051493)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in bone trabecula morphogenesis (GO:1900220)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	GTPase activating protein binding (GO:0032794)|receptor activity (GO:0004872)|semaphorin receptor activity (GO:0017154)|semaphorin receptor binding (GO:0030215)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		CGGGCAGCTCGCCGCCTTCTC	0.682																																						ENST00000358536.4																			0				NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47						c.(2539-2541)ggC>ggT		plexin B1							10	11	11					3																	48461154		2191	4282	6473	SO:0001819	synonymous_variant	5364				axon guidance|cell migration|intracellular signal transduction|regulation of cell shape|regulation of cytoskeleton organization|regulation of small GTPase mediated signal transduction|semaphorin-plexin signaling pathway	extracellular region|integral to plasma membrane|intracellular|semaphorin receptor complex	GTPase activator activity|semaphorin receptor activity|semaphorin receptor binding	g.chr3:48461154G>A	X87904	CCDS2765.1	3p21.31	2008-07-18			ENSG00000164050	ENSG00000164050		"Plexins"	9103	protein-coding gene	gene with protein product		601053		PLXN5		8570614, 11035813	Standard	XM_005265234		Approved	SEP, KIAA0407	uc003csw.2	O43157	OTTHUMG00000133527	ENST00000358536.4:c.2541C>T	3.37:g.48461154G>A						PLXNB1_ENST00000358459.4_Intron|PLXNB1_ENST00000296440.6_Silent_p.G847G|PLXNB1_ENST00000448774.2_Intron|PLXNB1_ENST00000456774.1_Intron	p.G847G	NM_002673.4	NP_002664.2	O43157	PLXB1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)	11	2810	-			847					A6H8Y2|Q6NY20|Q9UIV7|Q9UJ92|Q9UJ93	Silent	SNP	ENST00000358536.4	37	c.2541C>T	CCDS2765.1																																																																																				0.682	PLXNB1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344454.1	NM_002673		4	11	0	0	0	1	0	4	11					A	48461154	G	A	48461154	2	1	435	1	0	0	0	0	0	0	0	1	12123	1074	38	1		1	PLXNB1	3	48461154	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	3582	48461154	149561276	1786	22711											
CCDC51	79714	broad.mit.edu	37	chr3	48473935	48473935	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcttctagtctctgctccgtGtctgacagtgccaagatcat	7	13	9	12	1	4	2	1	1	3	1	6	2	5	2	2	0	2	2	2	0	2	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:48473935G>A	ENST00000395694.2	-	4	1204	c.1119C>T	c.(1117-1119)gaC>gaT	p.D373D	CCDC51_ENST00000447018.1_Silent_p.D264D|CCDC51_ENST00000395696.1_Silent_p.D373D|PLXNB1_ENST00000448774.2_5'Flank|CCDC51_ENST00000412398.2_Silent_p.D264D|CCDC51_ENST00000442740.1_Silent_p.D264D|PLXNB1_ENST00000296440.6_5'Flank	NM_001256964.1	NP_001243893.1	Q96ER9	CCD51_HUMAN	coiled-coil domain containing 51	373						integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|nucleus (GO:0005634)				endometrium(4)|kidney(4)|large_intestine(1)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	15				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		TCTGCTCCGTGTCTGACAGTG	0.557																																						ENST00000395694.2																			0				endometrium(4)|kidney(4)|large_intestine(1)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						c.(1117-1119)gaC>gaT		coiled-coil domain containing 51							57	61	59					3																	48473935		2080	4218	6298	SO:0001819	synonymous_variant	79714					integral to membrane		g.chr3:48473935G>A	AK022498	CCDS2766.2, CCDS58830.1	3p21.31	2005-12-30			ENSG00000164051	ENSG00000164051			25714	protein-coding gene	gene with protein product						12477932	Standard	NM_001256964		Approved	FLJ12436	uc003ctc.3	Q96ER9	OTTHUMG00000133534	ENST00000395694.2:c.1119C>T	3.37:g.48473935G>A						CCDC51_ENST00000395696.1_Silent_p.D373D|CCDC51_ENST00000447018.1_Silent_p.D264D|CCDC51_ENST00000442740.1_Silent_p.D264D|CCDC51_ENST00000412398.2_Silent_p.D264D	p.D373D	NM_001256964.1	NP_001243893.1	Q96ER9	CCD51_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)	4	1204	-			373					Q9HA01	Silent	SNP	ENST00000395694.2	37	c.1119C>T	CCDS2766.2																																																																																				0.557	CCDC51-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344599.2	NM_024661		10	13	0	0	0	1	0	10	13					A	48473935	G	A	48473935	2	1	435	1	0	0	0	0	0	0	0	1	2821	1368	48	3		3	CCDC51	3	48473935	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	12781	48473935	149548495	1787	22712											
COL7A1	1294	broad.mit.edu	37	chr3	48613965	48613965	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgcactcaccttggggcccGtgcctcctgggacaccagga	6	6	12	17	2	1	0	1	0	0	0	2	2	2	2	6	4	1	1	6	4	0	1	rs201719223		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:48613965G>A	ENST00000328333.8	-	68	5833	c.5726C>T	c.(5725-5727)aCg>aTg	p.T1909M	COL7A1_ENST00000454817.1_Missense_Mutation_p.T1877M|MIR711_ENST00000390201.1_RNA	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	1909	Triple-helical region.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|collagen type VII trimer (GO:0005590)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	serine-type endopeptidase inhibitor activity (GO:0004867)			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		CTTGGGGCCCGTGCCTCCTGG	0.597																																						ENST00000328333.8																			0				NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137						c.(5725-5727)aCg>aTg		collagen, type VII, alpha 1		G	MET/THR	0,4404		0,0,2202	21	21	21		5726	-3.9	0	3		21	1,8599	1.2+/-3.3	0,1,4299	yes	missense	COL7A1	NM_000094.3	81	0,1,6501	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging	1909/2945	48613965	1,13003	2202	4300	6502	SO:0001583	missense	1294				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity	g.chr3:48613965G>A	L02870	CCDS2773.1	3p21.1	2014-09-17	2008-08-01		ENSG00000114270	ENSG00000114270		"Collagens", "Fibronectin type III domain containing"	2214	protein-coding gene	gene with protein product	"collagen VII, alpha-1 polypeptide", "LC collagen"	120120	"epidermolysis bullosa, dystrophic, dominant and recessive"	EBDCT, EBD1, EBR1		1871109	Standard	NM_000094		Approved		uc003ctz.2	Q02388	OTTHUMG00000133541	ENST00000328333.8:c.5726C>T	3.37:g.48613965G>A	ENSP00000332371:p.Thr1909Met					COL7A1_ENST00000454817.1_Missense_Mutation_p.T1877M	p.T1909M	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)	68	5833	-			1909			Triple-helical region.		Q14054|Q16507	Missense_Mutation	SNP	ENST00000328333.8	37	c.5726C>T	CCDS2773.1	.	.	.	.	.	.	.	.	.	.	G	11.93	1.784152	0.31593	0.0	1.16E-4	ENSG00000114270	ENST00000328333;ENST00000454817	D;D	0.94376	-3.41;-3.23	5.63	-3.91	0.04168	.	1.548980	0.04380	N	0.360615	D	0.89203	0.6648	L	0.28649	0.875	0.09310	N	1	P	0.43938	0.822	B	0.40677	0.337	T	0.80763	-0.1237	10	0.44086	T	0.13	.	14.4117	0.67119	0.1949:0.0:0.8051:0.0	.	1909	Q02388	CO7A1_HUMAN	M	1909;1877	ENSP00000332371:T1909M;ENSP00000412569:T1877M	ENSP00000332371:T1909M	T	-	2	0	COL7A1	48588969	0.000000	0.05858	0.000000	0.03702	0.041000	0.13682	0.410000	0.21098	-0.613000	0.05694	-0.469000	0.05056	ACG		0.597	COL7A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257519.1	NM_000094		14	6	0	0	0	1	0	14	6					A	48613965	G	A	48613965	3	1	435	1	0	0	0	0	1	0	0	0	3704	1145	40	1	3312	1	COL7A1	3	48613965	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	140030	48613965	149408465	1788	22713											
COL7A1	1294	broad.mit.edu	37	chr3	48615753	48615753	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agctgccctggacacactcaCgttttttccattcaggccag	8	11	8	14	1	2	0	2	0	0	0	3	1	3	1	3	2	2	2	3	2	0	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:48615753C>T	ENST00000328333.8	-	64	5640		c.e64+1		COL7A1_ENST00000454817.1_Splice_Site|MIR711_ENST00000390201.1_RNA	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1						cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|collagen type VII trimer (GO:0005590)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	serine-type endopeptidase inhibitor activity (GO:0004867)			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		GACACACTCACGTTTTTTCCA	0.562																																						ENST00000328333.8																			0				NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137	GRCh37	CS991356	COL7A1	S		c.e64+1		collagen, type VII, alpha 1							114	93	100					3																	48615753		2203	4300	6503	SO:0001630	splice_region_variant	1294				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity	g.chr3:48615753C>T	L02870	CCDS2773.1	3p21.1	2014-09-17	2008-08-01		ENSG00000114270	ENSG00000114270		"Collagens", "Fibronectin type III domain containing"	2214	protein-coding gene	gene with protein product	"collagen VII, alpha-1 polypeptide", "LC collagen"	120120	"epidermolysis bullosa, dystrophic, dominant and recessive"	EBDCT, EBD1, EBR1		1871109	Standard	NM_000094		Approved		uc003ctz.2	Q02388	OTTHUMG00000133541	ENST00000328333.8:c.5532+1G>A	3.37:g.48615753C>T						COL7A1_ENST00000454817.1_Splice_Site		NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)	64	5640	-								Q14054|Q16507	Splice_Site	SNP	ENST00000328333.8	37		CCDS2773.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.244919	0.79912	.	.	ENSG00000114270	ENST00000328333;ENST00000454817	.	.	.	5.2	5.2	0.72013	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.598	0.76602	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	COL7A1	48590757	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	5.714000	0.68422	2.698000	0.92095	0.563000	0.77884	.		0.562	COL7A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257519.1	NM_000094	Intron	13	13	0	0	0	1	0	13	13					T	48615753	C	T	48615753	5	4	435	1	0	0	0	0	0	0	1	0	3704	550	19	1	3521	1	COL7A1	3	48615753	Splice_Site	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	1788	48615753	149406677	1789	22714											
COL7A1	1294	broad.mit.edu	37	chr3	48617238	48617238	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cttctctctggctccaggtcCtgtgtctacctgtgggggga	3	13	13	12	0	3	0	0	0	3	0	6	1	5	1	3	5	1	1	3	5	1	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:48617238C>A	ENST00000328333.8	-	57	5241	c.5134G>T	c.(5134-5136)Gga>Tga	p.G1712*	COL7A1_ENST00000454817.1_Nonsense_Mutation_p.G1712*|MIR711_ENST00000390201.1_RNA	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	1712	Triple-helical region.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|collagen type VII trimer (GO:0005590)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.G1712R(1)		NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		GCTCCAGGTCCTGTGTCTACC	0.577																																						ENST00000328333.8																			1	Substitution - Missense(1)	p.G1712R(1)	skin(1)	NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137						c.(5134-5136)Gga>Tga		collagen, type VII, alpha 1							68	74	72					3																	48617238		2203	4300	6503	SO:0001587	stop_gained	1294				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity	g.chr3:48617238C>A	L02870	CCDS2773.1	3p21.1	2014-09-17	2008-08-01		ENSG00000114270	ENSG00000114270		"Collagens", "Fibronectin type III domain containing"	2214	protein-coding gene	gene with protein product	"collagen VII, alpha-1 polypeptide", "LC collagen"	120120	"epidermolysis bullosa, dystrophic, dominant and recessive"	EBDCT, EBD1, EBR1		1871109	Standard	NM_000094		Approved		uc003ctz.2	Q02388	OTTHUMG00000133541	ENST00000328333.8:c.5134G>T	3.37:g.48617238C>A	ENSP00000332371:p.Gly1712*					COL7A1_ENST00000454817.1_Nonsense_Mutation_p.G1712*	p.G1712*	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)	57	5241	-			1712			Triple-helical region.		Q14054|Q16507	Nonsense_Mutation	SNP	ENST00000328333.8	37	c.5134G>T	CCDS2773.1	.	.	.	.	.	.	.	.	.	.	C	42	9.409821	0.99163	.	.	ENSG00000114270	ENST00000328333;ENST00000454817	.	.	.	4.49	3.62	0.41486	.	0.320881	0.21898	N	0.067497	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.40728	T	0.16	.	7.809	0.29219	0.0:0.7468:0.1629:0.0904	.	.	.	.	X	1712	.	ENSP00000332371:G1712X	G	-	1	0	COL7A1	48592242	0.073000	0.21202	0.003000	0.11579	0.055000	0.15305	3.973000	0.56845	1.264000	0.44198	-0.136000	0.14681	GGA		0.577	COL7A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257519.1	NM_000094		29	35	1	0	4.74835e-14	1	5.17254e-14	29	35					A	48617238	C	A	48617238	4	1	435	1	0	0	0	0	0	1	0	0	3704	690	24	5	3948	5	COL7A1	3	48617238	Nonsense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	1485	48617238	149405192	1790	22715											
COL7A1	1294	broad.mit.edu	37	chr3	48629119	48629119	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccctcaccagtgggaaccacGgttgcaggggtggccacctc	7	6	13	15	1	1	0	1	0	0	0	2	1	1	1	5	5	2	2	5	5	1	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:48629119G>A	ENST00000328333.8	-	11	1601	c.1494C>T	c.(1492-1494)acC>acT	p.T498T	COL7A1_ENST00000454817.1_Silent_p.T498T	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	498	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.|Nonhelical region (NC1).				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|collagen type VII trimer (GO:0005590)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	serine-type endopeptidase inhibitor activity (GO:0004867)			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		TGGGAACCACGGTTGCAGGGG	0.647																																						ENST00000328333.8																			0				NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137						c.(1492-1494)acC>acT		collagen, type VII, alpha 1							41	46	44					3																	48629119		2203	4300	6503	SO:0001819	synonymous_variant	1294				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity	g.chr3:48629119G>A	L02870	CCDS2773.1	3p21.1	2014-09-17	2008-08-01		ENSG00000114270	ENSG00000114270		"Collagens", "Fibronectin type III domain containing"	2214	protein-coding gene	gene with protein product	"collagen VII, alpha-1 polypeptide", "LC collagen"	120120	"epidermolysis bullosa, dystrophic, dominant and recessive"	EBDCT, EBD1, EBR1		1871109	Standard	NM_000094		Approved		uc003ctz.2	Q02388	OTTHUMG00000133541	ENST00000328333.8:c.1494C>T	3.37:g.48629119G>A						COL7A1_ENST00000454817.1_Silent_p.T498T	p.T498T	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)	11	1601	-			498			Fibronectin type-III 3.|Nonhelical region (NC1).		Q14054|Q16507	Silent	SNP	ENST00000328333.8	37	c.1494C>T	CCDS2773.1																																																																																				0.647	COL7A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257519.1	NM_000094		20	24	0	0	0	1	0	20	24					A	48629119	G	A	48629119	2	1	435	1	0	0	0	0	0	0	0	1	3704	1103	39	2		2	COL7A1	3	48629119	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	11881	48629119	149393311	1791	22716											
CELSR3	1951	broad.mit.edu	37	chr3	48683650	48683650	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgtccgtggaacacagccaCgctgaccaccggggagttca	9	5	13	14	4	1	1	1	1	0	0	2	3	2	3	4	3	2	2	4	3	1	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:48683650C>T	ENST00000164024.4	-	22	7616	c.7336G>A	c.(7336-7338)Gtg>Atg	p.V2446M	MIR4793_ENST00000577502.1_RNA|CELSR3_ENST00000544264.1_Missense_Mutation_p.V2451M	NM_001407.2	NP_001398.2	Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	2446					axonal fasciculation (GO:0007413)|cilium assembly (GO:0042384)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of protein localization (GO:0032880)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		AACACAGCCACGCTGACCACC	0.602																																						ENST00000544264.1																			0				NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83						c.(7351-7353)Gtg>Atg		cadherin, EGF LAG seven-pass G-type receptor 3							46	47	47					3																	48683650		2202	4297	6499	SO:0001583	missense	1951				homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding	g.chr3:48683650C>T	AF231023	CCDS2775.1	3p21.31	2014-08-08	2013-02-18		ENSG00000008300	ENSG00000008300		"Cadherins / Major cadherins", "-", "GPCR / Class B : Orphans"	3230	protein-coding gene	gene with protein product	"flamingo homolog 1 (Drosophila)"	604264	"cadherin EGF LAG seven-pass G-type receptor 3, flamingo (Drosophila) homolog"	EGFL1		9693030	Standard	NM_001407		Approved	MEGF2, HFMI1, FMI1, CDHF11	uc003cuf.1	Q9NYQ7	OTTHUMG00000133544	ENST00000164024.4:c.7336G>A	3.37:g.48683650C>T	ENSP00000164024:p.Val2446Met					CELSR3_ENST00000164024.4_Missense_Mutation_p.V2446M	p.V2451M			Q9NYQ7	CELR3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)	23	7631	-			2446					O75092	Missense_Mutation	SNP	ENST00000164024.4	37	c.7351G>A	CCDS2775.1	.	.	.	.	.	.	.	.	.	.	c	22.6	4.312479	0.81358	.	.	ENSG00000008300	ENST00000164024;ENST00000544264	T;T	0.10573	2.86;2.86	5.73	5.73	0.89815	Domain of unknown function DUF3497 (1);	.	.	.	.	T	0.32376	0.0827	L	0.60455	1.87	0.45066	D	0.998089	D;D	0.89917	0.997;1.0	D;D	0.72982	0.947;0.979	T	0.00529	-1.1687	9	0.66056	D	0.02	.	19.9082	0.97015	0.0:1.0:0.0:0.0	.	2446;2516	Q9NYQ7;Q5Y190	CELR3_HUMAN;.	M	2446;2451	ENSP00000164024:V2446M;ENSP00000445694:V2451M	ENSP00000164024:V2446M	V	-	1	0	CELSR3	48658654	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.562000	0.53777	2.713000	0.92767	0.651000	0.88453	GTG		0.602	CELSR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257523.1	NM_001407		8	13	0	0	0	1	0	8	13					T	48683650	C	T	48683650	3	4	435	1	0	0	0	0	1	0	0	0	3223	536	19	1	2658	1	CELSR3	3	48683650	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	54531	48683650	149338780	1792	22717											
CELSR3	1951	broad.mit.edu	37	chr3	48685381	48685381	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatggtagcgagggtagcgaCgggccccccggggagaactg	8	5	18	10	4	0	1	0	0	0	1	0	4	0	1	3	5	3	2	3	5	4	3	rs574354699	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:48685381C>T	ENST00000164024.4	-	20	7302	c.7022G>A	c.(7021-7023)cGt>cAt	p.R2341H	CELSR3_ENST00000544264.1_Missense_Mutation_p.R2346H	NM_001407.2	NP_001398.2	Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	2341					axonal fasciculation (GO:0007413)|cilium assembly (GO:0042384)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of protein localization (GO:0032880)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		AGGGTAGCGACGGGCCCCCCG	0.632													c|||	2	0.000399361	0	0	5008	,	,		10884	0		0	False		,,,				2504	0.002					ENST00000544264.1																			0				NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83						c.(7036-7038)cGt>cAt		cadherin, EGF LAG seven-pass G-type receptor 3							105	116	112					3																	48685381		2203	4300	6503	SO:0001583	missense	1951				homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding	g.chr3:48685381C>T	AF231023	CCDS2775.1	3p21.31	2014-08-08	2013-02-18		ENSG00000008300	ENSG00000008300		"Cadherins / Major cadherins", "-", "GPCR / Class B : Orphans"	3230	protein-coding gene	gene with protein product	"flamingo homolog 1 (Drosophila)"	604264	"cadherin EGF LAG seven-pass G-type receptor 3, flamingo (Drosophila) homolog"	EGFL1		9693030	Standard	NM_001407		Approved	MEGF2, HFMI1, FMI1, CDHF11	uc003cuf.1	Q9NYQ7	OTTHUMG00000133544	ENST00000164024.4:c.7022G>A	3.37:g.48685381C>T	ENSP00000164024:p.Arg2341His					CELSR3_ENST00000164024.4_Missense_Mutation_p.R2341H	p.R2346H			Q9NYQ7	CELR3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)	21	7317	-			2341					O75092	Missense_Mutation	SNP	ENST00000164024.4	37	c.7037G>A	CCDS2775.1	.	.	.	.	.	.	.	.	.	.	c	10.73	1.433249	0.25813	.	.	ENSG00000008300	ENST00000164024;ENST00000544264	T;T	0.09723	2.95;2.95	4.94	-0.954	0.10359	Domain of unknown function DUF3497 (1);	.	.	.	.	T	0.08891	0.0220	L	0.36672	1.1	0.09310	N	1	B;B	0.11235	0.003;0.004	B;B	0.12156	0.003;0.007	T	0.34030	-0.9845	9	0.35671	T	0.21	.	10.2391	0.43301	0.0:0.6151:0.0:0.3849	.	2341;2411	Q9NYQ7;Q5Y190	CELR3_HUMAN;.	H	2341;2346	ENSP00000164024:R2341H;ENSP00000445694:R2346H	ENSP00000164024:R2341H	R	-	2	0	CELSR3	48660385	0.069000	0.21087	0.073000	0.20177	0.715000	0.41141	0.242000	0.18087	-0.145000	0.11294	-1.355000	0.01225	CGT		0.632	CELSR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257523.1	NM_001407		27	76	0	0	0	1	0	27	76					T	48685381	C	T	48685381	3	4	435	1	0	0	0	0	1	0	0	0	3223	536	19	1	2980	1	CELSR3	3	48685381	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	1731	48685381	149337049	1793	22718											
CELSR3	1951	broad.mit.edu	37	chr3	48686637	48686637	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgggcctcatcacacagccGcacagcagcacctggaggca	10	4	11	16	1	2	0	2	0	0	0	2	1	2	1	3	3	3	4	3	3	0	0	rs542163838		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:48686637G>A	ENST00000164024.4	-	17	6764	c.6484C>T	c.(6484-6486)Cgg>Tgg	p.R2162W	CELSR3_ENST00000544264.1_Missense_Mutation_p.R2167W	NM_001407.2	NP_001398.2	Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	2162					axonal fasciculation (GO:0007413)|cilium assembly (GO:0042384)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of protein localization (GO:0032880)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		TCACACAGCCGCACAGCAGCA	0.622																																						ENST00000544264.1																			0				NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83						c.(6499-6501)Cgg>Tgg		cadherin, EGF LAG seven-pass G-type receptor 3							42	43	43					3																	48686637		2198	4297	6495	SO:0001583	missense	1951				homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding	g.chr3:48686637G>A	AF231023	CCDS2775.1	3p21.31	2014-08-08	2013-02-18		ENSG00000008300	ENSG00000008300		"Cadherins / Major cadherins", "-", "GPCR / Class B : Orphans"	3230	protein-coding gene	gene with protein product	"flamingo homolog 1 (Drosophila)"	604264	"cadherin EGF LAG seven-pass G-type receptor 3, flamingo (Drosophila) homolog"	EGFL1		9693030	Standard	NM_001407		Approved	MEGF2, HFMI1, FMI1, CDHF11	uc003cuf.1	Q9NYQ7	OTTHUMG00000133544	ENST00000164024.4:c.6484C>T	3.37:g.48686637G>A	ENSP00000164024:p.Arg2162Trp					CELSR3_ENST00000164024.4_Missense_Mutation_p.R2162W	p.R2167W			Q9NYQ7	CELR3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)	18	6779	-			2162					O75092	Missense_Mutation	SNP	ENST00000164024.4	37	c.6499C>T	CCDS2775.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.164083	0.78339	.	.	ENSG00000008300	ENST00000164024;ENST00000544264	T;T	0.69926	-0.44;-0.44	5.57	2.64	0.31445	GPCR, family 2, extracellular hormone receptor domain (3);	.	.	.	.	T	0.78181	0.4243	L	0.58925	1.835	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.80484	-0.1362	9	0.87932	D	0	.	15.2179	0.73285	0.0:0.0:0.5087:0.4913	.	2162;2232	Q9NYQ7;Q5Y190	CELR3_HUMAN;.	W	2162;2167	ENSP00000164024:R2162W;ENSP00000445694:R2167W	ENSP00000164024:R2162W	R	-	1	2	CELSR3	48661641	0.989000	0.36119	0.998000	0.56505	0.990000	0.78478	0.918000	0.28678	0.684000	0.31448	0.467000	0.42956	CGG		0.622	CELSR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257523.1	NM_001407		4	6	0	0	0	1	0	4	6					A	48686637	G	A	48686637	3	1	435	1	0	0	0	0	1	0	0	0	3223	1086	38	1	3530	1	CELSR3	3	48686637	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	1256	48686637	149335793	1794	22719											
CELSR3	1951	broad.mit.edu	37	chr3	48694698	48694698	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgccacatgttctcaaggcGcacggtcaggctgttggcca	7	9	12	13	2	2	0	2	0	1	0	3	0	2	0	2	4	1	4	2	4	1	2	rs373625993		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:48694698G>A	ENST00000164024.4	-	2	4112	c.3832C>T	c.(3832-3834)Cgc>Tgc	p.R1278C	CELSR3_ENST00000544264.1_Missense_Mutation_p.R1278C	NM_001407.2	NP_001398.2	Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	1278					axonal fasciculation (GO:0007413)|cilium assembly (GO:0042384)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of protein localization (GO:0032880)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		TTCTCAAGGCGCACGGTCAGG	0.672																																						ENST00000544264.1																			0				NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83						c.(3832-3834)Cgc>Tgc		cadherin, EGF LAG seven-pass G-type receptor 3							35	31	32					3																	48694698		2200	4299	6499	SO:0001583	missense	1951				homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding	g.chr3:48694698G>A	AF231023	CCDS2775.1	3p21.31	2014-08-08	2013-02-18		ENSG00000008300	ENSG00000008300		"Cadherins / Major cadherins", "-", "GPCR / Class B : Orphans"	3230	protein-coding gene	gene with protein product	"flamingo homolog 1 (Drosophila)"	604264	"cadherin EGF LAG seven-pass G-type receptor 3, flamingo (Drosophila) homolog"	EGFL1		9693030	Standard	NM_001407		Approved	MEGF2, HFMI1, FMI1, CDHF11	uc003cuf.1	Q9NYQ7	OTTHUMG00000133544	ENST00000164024.4:c.3832C>T	3.37:g.48694698G>A	ENSP00000164024:p.Arg1278Cys					CELSR3_ENST00000164024.4_Missense_Mutation_p.R1278C	p.R1278C			Q9NYQ7	CELR3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)	2	4112	-			1278					O75092	Missense_Mutation	SNP	ENST00000164024.4	37	c.3832C>T	CCDS2775.1	.	.	.	.	.	.	.	.	.	.	G	27.6	4.842729	0.91197	.	.	ENSG00000008300	ENST00000164024;ENST00000544264	T;T	0.76968	-1.06;-1.05	4.9	4.9	0.64082	.	.	.	.	.	D	0.89986	0.6874	M	0.88979	2.995	0.80722	D	1	D;D	0.89917	1.0;0.979	D;B	0.78314	0.991;0.42	D	0.91862	0.5500	9	0.87932	D	0	.	18.2685	0.90060	0.0:0.0:1.0:0.0	.	1278;1348	Q9NYQ7;Q5Y190	CELR3_HUMAN;.	C	1278	ENSP00000164024:R1278C;ENSP00000445694:R1278C	ENSP00000164024:R1278C	R	-	1	0	CELSR3	48669702	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.783000	0.85696	2.560000	0.86352	0.549000	0.68633	CGC		0.672	CELSR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257523.1	NM_001407		5	9	0	0	0	1	0	5	9					A	48694698	G	A	48694698	3	1	435	1	0	0	0	0	1	0	0	0	3223	1087	38	1	6242	1	CELSR3	3	48694698	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	8061	48694698	149327732	1795	22720											
CELSR3	1951	broad.mit.edu	37	chr3	48697959	48697959	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acagagacccagccagtggcGctgtttatcacaaaaggagt	13	7	11	10	1	1	1	1	0	0	1	1	3	1	2	2	2	1	2	2	2	3	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:48697959G>A	ENST00000164024.4	-	1	2389	c.2109C>T	c.(2107-2109)agC>agT	p.S703S	CELSR3_ENST00000544264.1_Silent_p.S703S	NM_001407.2	NP_001398.2	Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	703	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				axonal fasciculation (GO:0007413)|cilium assembly (GO:0042384)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of protein localization (GO:0032880)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		AGCCAGTGGCGCTGTTTATCA	0.547																																						ENST00000544264.1																			0				NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83						c.(2107-2109)agC>agT		cadherin, EGF LAG seven-pass G-type receptor 3							55	52	53					3																	48697959		2203	4300	6503	SO:0001819	synonymous_variant	1951				homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding	g.chr3:48697959G>A	AF231023	CCDS2775.1	3p21.31	2014-08-08	2013-02-18		ENSG00000008300	ENSG00000008300		"Cadherins / Major cadherins", "-", "GPCR / Class B : Orphans"	3230	protein-coding gene	gene with protein product	"flamingo homolog 1 (Drosophila)"	604264	"cadherin EGF LAG seven-pass G-type receptor 3, flamingo (Drosophila) homolog"	EGFL1		9693030	Standard	NM_001407		Approved	MEGF2, HFMI1, FMI1, CDHF11	uc003cuf.1	Q9NYQ7	OTTHUMG00000133544	ENST00000164024.4:c.2109C>T	3.37:g.48697959G>A						CELSR3_ENST00000164024.4_Silent_p.S703S	p.S703S			Q9NYQ7	CELR3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)	1	2389	-			703			Cadherin 4.		O75092	Silent	SNP	ENST00000164024.4	37	c.2109C>T	CCDS2775.1																																																																																				0.547	CELSR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257523.1	NM_001407		4	29	0	0	0	1	0	4	29					A	48697959	G	A	48697959	2	1	435	1	0	0	0	0	0	0	0	1	3223	1078	38	1		1	CELSR3	3	48697959	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	3261	48697959	149324471	1796	22721											
CELSR3	1951	broad.mit.edu	37	chr3	48699531	48699531	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gacaccggcttgggaccgtgGtgccgaatcaaaaagtctga	11	7	13	10	3	2	1	1	1	1	0	2	4	2	2	3	3	1	1	3	3	3	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:48699531G>A	ENST00000164024.4	-	1	817	c.537C>T	c.(535-537)caC>caT	p.H179H	RP11-148G20.1_ENST00000421275.1_RNA|CELSR3_ENST00000544264.1_Silent_p.H179H	NM_001407.2	NP_001398.2	Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	179					axonal fasciculation (GO:0007413)|cilium assembly (GO:0042384)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of protein localization (GO:0032880)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		TGGGACCGTGGTGCCGAATCA	0.632																																						ENST00000544264.1																			0				NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83						c.(535-537)caC>caT		cadherin, EGF LAG seven-pass G-type receptor 3							42	50	47					3																	48699531		2202	4298	6500	SO:0001819	synonymous_variant	1951				homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding	g.chr3:48699531G>A	AF231023	CCDS2775.1	3p21.31	2014-08-08	2013-02-18		ENSG00000008300	ENSG00000008300		"Cadherins / Major cadherins", "-", "GPCR / Class B : Orphans"	3230	protein-coding gene	gene with protein product	"flamingo homolog 1 (Drosophila)"	604264	"cadherin EGF LAG seven-pass G-type receptor 3, flamingo (Drosophila) homolog"	EGFL1		9693030	Standard	NM_001407		Approved	MEGF2, HFMI1, FMI1, CDHF11	uc003cuf.1	Q9NYQ7	OTTHUMG00000133544	ENST00000164024.4:c.537C>T	3.37:g.48699531G>A						CELSR3_ENST00000164024.4_Silent_p.H179H	p.H179H			Q9NYQ7	CELR3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)	1	817	-			179					O75092	Silent	SNP	ENST00000164024.4	37	c.537C>T	CCDS2775.1																																																																																				0.632	CELSR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257523.1	NM_001407		32	50	0	0	0	1	0	32	50					A	48699531	G	A	48699531	2	1	435	1	0	0	0	0	0	0	0	1	3223	1252	44	3		3	CELSR3	3	48699531	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	1572	48699531	149322899	1797	22722											
PRKAR2A	5576	broad.mit.edu	37	chr3	48820520	48820520	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcatcgagaacttgagaaagCtgttcctgcagggtatgcac	11	9	12	9	1	0	2	0	1	0	2	2	4	1	2	1	1	4	6	1	1	3	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:48820520C>A	ENST00000265563.8	-	5	690	c.441G>T	c.(439-441)caG>caT	p.Q147H	PRKAR2A_ENST00000296446.8_Missense_Mutation_p.Q147H|PRKAR2A_ENST00000454963.1_Missense_Mutation_p.Q147H	NM_004157.2	NP_004148.1	P13861	KAP2_HUMAN	protein kinase, cAMP-dependent, regulatory, type II, alpha	147					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|blood coagulation (GO:0007596)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|negative regulation of cAMP-dependent protein kinase activity (GO:2000480)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	AMP-activated protein kinase complex (GO:0031588)|cAMP-dependent protein kinase complex (GO:0005952)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|cAMP-dependent protein kinase inhibitor activity (GO:0004862)|cAMP-dependent protein kinase regulator activity (GO:0008603)|protein kinase A catalytic subunit binding (GO:0034236)|ubiquitin protein ligase binding (GO:0031625)		SLC26A6/PRKAR2A(2)	breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(1)|ovary(1)	6				BRCA - Breast invasive adenocarcinoma(193;0.000176)|Kidney(197;0.00246)|KIRC - Kidney renal clear cell carcinoma(197;0.00261)		CTTGAGAAAGCTGTTCCTGCA	0.373																																						ENST00000265563.8																		SLC26A6/PRKAR2A(2)	0				breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(1)|ovary(1)	6						c.(439-441)caG>caT		protein kinase, cAMP-dependent, regulatory, type II, alpha							141	120	127					3																	48820520		2203	4300	6503	SO:0001583	missense	5576				activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|intracellular signal transduction|nerve growth factor receptor signaling pathway|regulation of insulin secretion|transmembrane transport|water transport	centrosome|cytosol|membrane fraction	cAMP binding|cAMP-dependent protein kinase regulator activity	g.chr3:48820520C>A		CCDS2778.1	3p21.3-p21.2	2009-07-10			ENSG00000114302	ENSG00000114302	2.7.11.1		9391	protein-coding gene	gene with protein product		176910		PRKAR2		9676433	Standard	NM_004157		Approved		uc003cux.1	P13861	OTTHUMG00000133540	ENST00000265563.8:c.441G>T	3.37:g.48820520C>A	ENSP00000265563:p.Gln147His					PRKAR2A_ENST00000296446.8_Missense_Mutation_p.Q147H|PRKAR2A_ENST00000454963.1_Missense_Mutation_p.Q147H	p.Q147H	NM_004157.2	NP_004148.1	P13861	KAP2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000176)|Kidney(197;0.00246)|KIRC - Kidney renal clear cell carcinoma(197;0.00261)	5	690	-			147					Q16823|Q9BUB1	Missense_Mutation	SNP	ENST00000265563.8	37	c.441G>T	CCDS2778.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.46|16.46	3.129583|3.129583	0.56721|0.56721	.|.	.|.	ENSG00000114302|ENSG00000114302	ENST00000265563;ENST00000454963;ENST00000296446|ENST00000437821	T;T;T|.	0.46819|.	0.86;0.86;0.86|.	4.51|4.51	0.47|0.47	0.16747|0.16747	Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);Cyclic nucleotide-binding domain (2);|.	0.171136|.	0.39407|.	N|.	0.001369|.	T|T	0.71879|0.71879	0.3392|0.3392	M|M	0.80847|0.80847	2.515|2.515	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	0.999;1.0|.	D;D|.	0.71414|.	0.957;0.973|.	T|T	0.69665|0.69665	-0.5084|-0.5084	10|5	0.72032|.	D|.	0.01|.	-2.824|-2.824	11.5959|11.5959	0.50972|0.50972	0.0:0.7188:0.0:0.2812|0.0:0.7188:0.0:0.2812	.|.	147;147|.	Q9BUB1;P13861|.	.;KAP2_HUMAN|.	H|I	147|36	ENSP00000265563:Q147H;ENSP00000394041:Q147H;ENSP00000296446:Q147H|.	ENSP00000265563:Q147H|.	Q|S	-|-	3|2	2|0	PRKAR2A|PRKAR2A	48795524|48795524	1.000000|1.000000	0.71417|0.71417	0.993000|0.993000	0.49108|0.49108	0.923000|0.923000	0.55619|0.55619	1.421000|1.421000	0.34815|0.34815	-0.252000|-0.252000	0.09528|0.09528	-0.797000|-0.797000	0.03246|0.03246	CAG|AGC		0.373	PRKAR2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257518.1			23	27	1	0	2.21704e-12	1	2.3975e-12	23	27					A	48820520	C	A	48820520	3	1	435	1	0	0	0	0	1	0	0	0	12505	796	28	5	801	5	PRKAR2A	3	48820520	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	120989	48820520	149201910	1798	22723											
P4HTM	54681	broad.mit.edu	37	chr3	49027944	49027944	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctgctcttcgtgcactacagCaacggcgacgaaagcagcga	11	6	11	13	5	1	0	0	0	1	0	2	3	1	0	0	1	7	4	0	1	3	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:49027944C>T	ENST00000383729.4	+	1	626	c.255C>T	c.(253-255)agC>agT	p.S85S	RP13-131K19.2_ENST00000452042.1_RNA|P4HTM_ENST00000609406.1_3'UTR|P4HTM_ENST00000343546.4_Silent_p.S85S	NM_177939.2	NP_808808.1	Q9NXG6	P4HTM_HUMAN	prolyl 4-hydroxylase, transmembrane (endoplasmic reticulum)	85						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)			NS(1)|breast(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	21					Vitamin C(DB00126)	TGCACTACAGCAACGGCGACG	0.677																																						ENST00000343546.4																			0				NS(1)|breast(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	21						c.(253-255)agC>agT		prolyl 4-hydroxylase, transmembrane (endoplasmic reticulum)	Vitamin C(DB00126)						32	21	25					3																	49027944		2195	4281	6476	SO:0001819	synonymous_variant	54681					endoplasmic reticulum membrane|integral to membrane	calcium ion binding|iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr3:49027944C>T		CCDS2781.2, CCDS43089.1	3p21.31	2009-01-14			ENSG00000178467	ENSG00000178467			28858	protein-coding gene	gene with protein product	"Prolyl hydroxlase domain-containing 4", "hypoxia inducible factor prolyl 4 hydroxylase"	614584				12163023, 17726031	Standard	XR_245139		Approved	P4H-TM, PHD4, PH4, HIFPH4, FLJ20262, EGLN4, PH-4	uc003cvh.3	Q9NXG6	OTTHUMG00000074057	ENST00000383729.4:c.255C>T	3.37:g.49027944C>T						P4HTM_ENST00000383729.4_Silent_p.S85S	p.S85S	NM_177938.2	NP_808807.2	Q9NXG6	P4HTM_HUMAN			1	623	+			85					Q6PAG6|Q8TCJ9|Q8WV55|Q96F22|Q9BW77	Silent	SNP	ENST00000383729.4	37	c.255C>T	CCDS43089.1	.	.	.	.	.	.	.	.	.	.	C	4.784	0.145864	0.09134	.	.	ENSG00000178467	ENST00000444213	.	.	.	4.35	1.52	0.23074	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-23.8866	8.5292	0.33324	0.0:0.7375:0.0:0.2625	.	.	.	.	X	37	.	.	Q	+	1	0	P4HTM	49002948	1.000000	0.71417	1.000000	0.80357	0.213000	0.24496	1.731000	0.38135	0.294000	0.22547	-0.379000	0.06801	CAA		0.677	P4HTM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157211.1	NM_177938		5	18	0	0	0	1	0	5	18					T	49027944	C	T	49027944	2	4	435	1	0	0	0	0	0	0	0	1	11360	709	25	3		3	P4HTM	3	49027944	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	207424	49027944	148994486	1799	22724											
P4HTM	54681	broad.mit.edu	37	chr3	49038923	49038923	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cggctcatcatccatctggcGcagatgaaggggttacagcg	9	8	13	11	3	3	2	2	1	1	1	4	2	4	2	1	4	2	3	1	4	2	1	rs143747733	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:49038923G>A	ENST00000383729.4	+	3	860	c.489G>A	c.(487-489)gcG>gcA	p.A163A	P4HTM_ENST00000343546.4_Silent_p.A163A	NM_177939.2	NP_808808.1	Q9NXG6	P4HTM_HUMAN	prolyl 4-hydroxylase, transmembrane (endoplasmic reticulum)	163						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)			NS(1)|breast(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	21					Vitamin C(DB00126)	TCCATCTGGCGCAGATGAAGG	0.582													G|||	6	0.00119808	0	0	5008	,	,		20046	0.006		0	False		,,,				2504	0					ENST00000343546.4																			0				NS(1)|breast(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	21						c.(487-489)gcG>gcA		prolyl 4-hydroxylase, transmembrane (endoplasmic reticulum)	Vitamin C(DB00126)	G	,	1,4405	2.1+/-5.4	0,1,2202	60	53	55		489,489	-11.9	0.8	3	dbSNP_134	55	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	P4HTM	NM_177938.2,NM_177939.2	,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,	163/564,163/503	49038923	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	54681					endoplasmic reticulum membrane|integral to membrane	calcium ion binding|iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr3:49038923G>A		CCDS2781.2, CCDS43089.1	3p21.31	2009-01-14			ENSG00000178467	ENSG00000178467			28858	protein-coding gene	gene with protein product	"Prolyl hydroxlase domain-containing 4", "hypoxia inducible factor prolyl 4 hydroxylase"	614584				12163023, 17726031	Standard	XR_245139		Approved	P4H-TM, PHD4, PH4, HIFPH4, FLJ20262, EGLN4, PH-4	uc003cvh.3	Q9NXG6	OTTHUMG00000074057	ENST00000383729.4:c.489G>A	3.37:g.49038923G>A						P4HTM_ENST00000468374.1_3'UTR|P4HTM_ENST00000383729.4_Silent_p.A163A	p.A163A	NM_177938.2	NP_808807.2	Q9NXG6	P4HTM_HUMAN			3	857	+			163					Q6PAG6|Q8TCJ9|Q8WV55|Q96F22|Q9BW77	Silent	SNP	ENST00000383729.4	37	c.489G>A	CCDS43089.1	3	0.0013736263736263737	0	0.0	0	0.0	3	0.005244755244755245	0	0.0	G	10.38	1.335462	0.24253	2.27E-4	0.0	ENSG00000178467	ENST00000444213	.	.	.	5.93	-11.9	0.00025	.	0.000000	0.85682	D	0.000000	T	0.44095	0.1277	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.70132	-0.4956	6	0.72032	D	0.01	-17.1286	7.5835	0.27978	0.2091:0.4877:0.237:0.0662	.	.	.	.	T	115	.	ENSP00000398554:A115T	A	+	1	0	P4HTM	49013927	0.000000	0.05858	0.771000	0.31576	0.989000	0.77384	-3.896000	0.00340	-1.647000	0.01511	-0.302000	0.09304	GCA		0.582	P4HTM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157211.1	NM_177938		15	15	0	0	0	1	0	15	15					A	49038923	G	A	49038923	2	1	435	1	0	0	0	0	0	0	0	1	11360	1074	38	1		1	P4HTM	3	49038923	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	10979	49038923	148983507	1800	22725											
WDR6	11180	broad.mit.edu	37	chr3	49050727	49050727	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctatgtgtataccacagggcGtgatggagcctactaccagc	10	9	11	11	1	0	1	0	1	0	0	0	2	0	2	3	2	5	1	3	2	5	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:49050727G>A	ENST00000608424.1	+	2	1799	c.1760G>A	c.(1759-1761)cGt>cAt	p.R587H	WDR6_ENST00000395474.3_Missense_Mutation_p.R617H|WDR6_ENST00000448293.1_Missense_Mutation_p.R536H|WDR6_ENST00000489684.1_3'UTR|WDR6_ENST00000415265.2_Missense_Mutation_p.R35H			Q9NNW5	WDR6_HUMAN	WD repeat domain 6	587					cell cycle arrest (GO:0007050)|negative regulation of autophagy (GO:0010507)|negative regulation of cell proliferation (GO:0008285)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|liver(1)|lung(9)|ovary(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26				Kidney(197;9.12e-07)|KIRC - Kidney renal clear cell carcinoma(197;1.32e-05)|BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000155)		ACCACAGGGCGTGATGGAGCC	0.587																																						ENST00000395474.3																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|liver(1)|lung(9)|ovary(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26						c.(1849-1851)cGt>cAt		WD repeat domain 6							75	54	61					3																	49050727		2203	4300	6503	SO:0001583	missense	11180				cell cycle arrest|negative regulation of cell proliferation	cytoplasm		g.chr3:49050727G>A	AF099100	CCDS2782.2	3p21.31	2013-01-09			ENSG00000178252	ENSG00000178252		"WD repeat domain containing"	12758	protein-coding gene	gene with protein product		606031					Standard	NM_018031		Approved		uc003cvj.2	Q9NNW5	OTTHUMG00000133546	ENST00000608424.1:c.1760G>A	3.37:g.49050727G>A	ENSP00000477389:p.Arg587His					WDR6_ENST00000489684.1_3'UTR|WDR6_ENST00000448293.1_Missense_Mutation_p.R536H|WDR6_ENST00000415265.2_Missense_Mutation_p.R35H	p.R617H	NM_018031.3	NP_060501.3	Q9NNW5	WDR6_HUMAN		Kidney(197;9.12e-07)|KIRC - Kidney renal clear cell carcinoma(197;1.32e-05)|BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000155)	2	2130	+			587					B4DHK2|Q3MIT1|Q9UF63	Missense_Mutation	SNP	ENST00000608424.1	37	c.1850G>A		.	.	.	.	.	.	.	.	.	.	G	16.72	3.201370	0.58234	.	.	ENSG00000178252	ENST00000395474;ENST00000415265;ENST00000448293	T;D	0.90261	-0.37;-2.64	5.35	5.35	0.76521	Quinoprotein amine dehydrogenase, beta chain-like (1);Six-bladed beta-propeller, TolB-like (1);	0.052231	0.85682	D	0.000000	D	0.94447	0.8213	M	0.69185	2.1	0.47737	D	0.999503	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.972;0.998	D	0.92281	0.5833	10	0.21540	T	0.41	-22.1807	19.0531	0.93053	0.0:0.0:1.0:0.0	.	35;587;536	E9PBK6;Q9NNW5;E9PDU5	.;WDR6_HUMAN;.	H	617;35;536	ENSP00000378857:R617H;ENSP00000413432:R536H	ENSP00000378857:R617H	R	+	2	0	WDR6	49025731	1.000000	0.71417	0.949000	0.38748	0.320000	0.28249	7.111000	0.77077	2.503000	0.84419	0.561000	0.74099	CGT		0.587	WDR6-024	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000471652.1			11	13	0	0	0	1	0	11	13					A	49050727	G	A	49050727	3	1	435	1	0	0	0	0	1	0	0	0	17307	1145	40	1	1856	1	WDR6	3	49050727	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	11804	49050727	148971703	1801	22726											
WDR6	11180	broad.mit.edu	37	chr3	49050849	49050849	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tagtgcccgatgggagcatgGttatcctgggtttccatgcc	6	12	13	10	1	0	0	0	0	0	0	2	2	2	1	4	3	3	3	4	3	2	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:49050849G>A	ENST00000608424.1	+	2	1921	c.1882G>A	c.(1882-1884)Gtt>Att	p.V628I	WDR6_ENST00000395474.3_Missense_Mutation_p.V658I|WDR6_ENST00000448293.1_Missense_Mutation_p.V577I|WDR6_ENST00000415265.2_Missense_Mutation_p.V76I			Q9NNW5	WDR6_HUMAN	WD repeat domain 6	628					cell cycle arrest (GO:0007050)|negative regulation of autophagy (GO:0010507)|negative regulation of cell proliferation (GO:0008285)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|liver(1)|lung(9)|ovary(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26				Kidney(197;9.12e-07)|KIRC - Kidney renal clear cell carcinoma(197;1.32e-05)|BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000155)		TGGGAGCATGGTTATCCTGGG	0.577																																						ENST00000395474.3																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|liver(1)|lung(9)|ovary(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26						c.(1972-1974)Gtt>Att		WD repeat domain 6							137	107	117					3																	49050849		2203	4300	6503	SO:0001583	missense	11180				cell cycle arrest|negative regulation of cell proliferation	cytoplasm		g.chr3:49050849G>A	AF099100	CCDS2782.2	3p21.31	2013-01-09			ENSG00000178252	ENSG00000178252		"WD repeat domain containing"	12758	protein-coding gene	gene with protein product		606031					Standard	NM_018031		Approved		uc003cvj.2	Q9NNW5	OTTHUMG00000133546	ENST00000608424.1:c.1882G>A	3.37:g.49050849G>A	ENSP00000477389:p.Val628Ile					WDR6_ENST00000448293.1_Missense_Mutation_p.V577I|WDR6_ENST00000415265.2_Missense_Mutation_p.V76I	p.V658I	NM_018031.3	NP_060501.3	Q9NNW5	WDR6_HUMAN		Kidney(197;9.12e-07)|KIRC - Kidney renal clear cell carcinoma(197;1.32e-05)|BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000155)	2	2252	+			628					B4DHK2|Q3MIT1|Q9UF63	Missense_Mutation	SNP	ENST00000608424.1	37	c.1972G>A		.	.	.	.	.	.	.	.	.	.	G	13.66	2.302327	0.40694	.	.	ENSG00000178252	ENST00000395474;ENST00000415265;ENST00000448293	T;T;T	0.69435	2.9;-0.4;-0.4	5.35	4.45	0.53987	WD40 repeat-like-containing domain (1);Quinoprotein amine dehydrogenase, beta chain-like (1);Six-bladed beta-propeller, TolB-like (1);	0.207801	0.41396	D	0.000883	T	0.43986	0.1272	L	0.27053	0.805	0.35263	D	0.779747	P;P;P	0.39831	0.558;0.69;0.69	B;B;B	0.36666	0.153;0.23;0.164	T	0.49925	-0.8887	10	0.16896	T	0.51	-31.4233	3.6623	0.08244	0.0973:0.2501:0.5228:0.1298	.	76;628;577	E9PBK6;Q9NNW5;E9PDU5	.;WDR6_HUMAN;.	I	658;76;577	ENSP00000378857:V658I;ENSP00000412195:V76I;ENSP00000413432:V577I	ENSP00000378857:V658I	V	+	1	0	WDR6	49025853	1.000000	0.71417	0.997000	0.53966	0.866000	0.49608	2.482000	0.45224	2.503000	0.84419	0.561000	0.74099	GTT		0.577	WDR6-024	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000471652.1			18	18	0	0	0	1	0	18	18					A	49050849	G	A	49050849	3	1	435	1	0	0	0	0	1	0	0	0	17307	1261	44	3	1978	3	WDR6	3	49050849	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	122	49050849	148971581	1802	22727											
DALRD3	55152	broad.mit.edu	37	chr3	49053301	49053301	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgagctgtaccaggaacttgCatatctagagacagagactg	13	9	11	8	0	1	3	0	1	1	2	1	6	1	4	1	1	4	3	1	1	4	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:49053301C>T	ENST00000341949.4	-	11	1454	c.1448G>A	c.(1447-1449)tGc>tAc	p.C483Y	WDR6_ENST00000395474.3_3'UTR|DALRD3_ENST00000496568.1_5'Flank|WDR6_ENST00000608424.1_3'UTR|DALRD3_ENST00000441576.2_Missense_Mutation_p.M474I|DALRD3_ENST00000440857.1_Missense_Mutation_p.M349I|DALRD3_ENST00000395462.4_Missense_Mutation_p.C316Y|DALRD3_ENST00000313778.5_Missense_Mutation_p.C316Y	NM_001009996.1	NP_001009996.1	Q5D0E6	DALD3_HUMAN	DALR anticodon binding domain containing 3	483					arginyl-tRNA aminoacylation (GO:0006420)		arginine-tRNA ligase activity (GO:0004814)|ATP binding (GO:0005524)			breast(2)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)	12				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		CAGGAACTTGCATATCTAGAG	0.517																																						ENST00000440857.1																			0				breast(2)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)	12						c.(1045-1047)atG>atA		DALR anticodon binding domain containing 3							125	123	124					3																	49053301		2203	4300	6503	SO:0001583	missense	55152				arginyl-tRNA aminoacylation	cytoplasm	arginine-tRNA ligase activity|ATP binding	g.chr3:49053301C>T	BC014099	CCDS2783.1, CCDS33754.1, CCDS63632.1	3p21.31	2005-01-10			ENSG00000178149	ENSG00000178149			25536	protein-coding gene	gene with protein product						12477932	Standard	NM_001009996		Approved	FLJ10496	uc003cvk.2	Q5D0E6	OTTHUMG00000156748	ENST00000341949.4:c.1448G>A	3.37:g.49053301C>T	ENSP00000344989:p.Cys483Tyr					WDR6_ENST00000395474.3_3'UTR|DALRD3_ENST00000395462.4_Missense_Mutation_p.C316Y|DALRD3_ENST00000441576.2_Missense_Mutation_p.M474I|DALRD3_ENST00000341949.4_Missense_Mutation_p.C483Y|DALRD3_ENST00000313778.5_Missense_Mutation_p.C316Y	p.M349I			Q5D0E6	DALD3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	11	1749	-			54					Q7Z5S7|Q86WY1|Q8N105|Q8NA89|Q9NVU8	Missense_Mutation	SNP	ENST00000341949.4	37	c.1047G>A	CCDS33754.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	22.7|22.7	4.328976|4.328976	0.81690|0.81690	.|.	.|.	ENSG00000178149|ENSG00000178149	ENST00000341949;ENST00000395462;ENST00000313778|ENST00000438585;ENST00000441576;ENST00000440857	T;T;T|T;T	0.77877|0.44881	-1.13;-1.13;-1.13|0.97;0.91	5.75|5.75	5.75|5.75	0.90469|0.90469	Aminoacyl-tRNA synthetase, class 1a, anticodon-binding (1);DALR anticodon binding (2);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.48926|0.48926	0.1527|0.1527	M|M	0.78637|0.78637	2.42|2.42	0.80722|0.80722	D|D	1|1	D|B;B	0.63046|0.09022	0.992|0.001;0.002	D|B;B	0.69654|0.08055	0.965|0.001;0.003	T|T	0.42632|0.42632	-0.9440|-0.9440	10|8	0.87932|.	D|.	0|.	-25.5952|-25.5952	20.0114|20.0114	0.97452|0.97452	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	483|349;474	Q5D0E6|C9JJG6;Q5D0E6-2	DALD3_HUMAN|.;.	Y|I	483;316;316|129;474;349	ENSP00000344989:C483Y;ENSP00000378846:C316Y;ENSP00000323265:C316Y|ENSP00000410623:M474I;ENSP00000403770:M349I	ENSP00000323265:C316Y|.	C|M	-|-	2|3	0|0	DALRD3|DALRD3	49028305|49028305	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.992000|0.992000	0.81027|0.81027	6.600000|6.600000	0.74132|0.74132	2.724000|2.724000	0.93272|0.93272	0.556000|0.556000	0.70494|0.70494	TGC|ATG		0.517	DALRD3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345581.1	NM_018114		25	41	0	0	0	1	0	25	41					T	49053301	C	T	49053301	3	4	435	1	0	0	0	0	1	0	0	0	4229	710	25	3	191	3	DALRD3	3	49053301	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	2452	49053301	148969129	1803	22728											
QRICH1	54870	broad.mit.edu	37	chr3	49094396	49094396	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgggggtcccatatatggaCagtttgagccgtattctggt	7	14	13	7	1	1	1	0	1	1	0	2	2	2	2	2	4	1	2	2	4	3	6			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:49094396C>T	ENST00000395443.2	-	3	1709	c.1237G>A	c.(1237-1239)Gtc>Atc	p.V413I	QRICH1_ENST00000479449.1_5'UTR|QRICH1_ENST00000357496.2_Missense_Mutation_p.V413I|QRICH1_ENST00000424300.1_Missense_Mutation_p.V413I	NM_198880.1	NP_942581.1	Q2TAL8	QRIC1_HUMAN	glutamine-rich 1	413	Gln-rich.					nucleus (GO:0005634)				breast(2)|endometrium(5)|large_intestine(8)|lung(8)|ovary(1)|skin(1)	25				BRCA - Breast invasive adenocarcinoma(193;8.88e-05)|Kidney(197;0.00239)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)		CATATATGGACAGTTTGAGCC	0.537																																						ENST00000395443.2																			0				breast(2)|endometrium(5)|large_intestine(8)|lung(8)|ovary(1)|skin(1)	25						c.(1237-1239)Gtc>Atc		glutamine-rich 1							90	83	86					3																	49094396		2203	4300	6503	SO:0001583	missense	54870							g.chr3:49094396C>T		CCDS2787.1	3p21.31	2011-06-03			ENSG00000198218	ENSG00000198218			24713	protein-coding gene	gene with protein product						12477932	Standard	NM_017730		Approved	FLJ20259	uc003cvv.3	Q2TAL8	OTTHUMG00000156772	ENST00000395443.2:c.1237G>A	3.37:g.49094396C>T	ENSP00000378830:p.Val413Ile					QRICH1_ENST00000479449.1_5'UTR|QRICH1_ENST00000424300.1_Missense_Mutation_p.V413I|QRICH1_ENST00000357496.2_Missense_Mutation_p.V413I	p.V413I	NM_198880.1	NP_942581.1	Q2TAL8	QRIC1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.88e-05)|Kidney(197;0.00239)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)	3	1709	-			413			Gln-rich.		Q4G0F7|Q7L621|Q8TEA5	Missense_Mutation	SNP	ENST00000395443.2	37	c.1237G>A	CCDS2787.1	.	.	.	.	.	.	.	.	.	.	C	16.07	3.017583	0.54576	.	.	ENSG00000198218	ENST00000395443;ENST00000357496;ENST00000424300	.	.	.	6.07	6.07	0.98685	.	0.168034	0.52532	D	0.000067	T	0.47764	0.1463	N	0.19112	0.55	0.48135	D	0.999592	B	0.30439	0.279	B	0.27608	0.081	T	0.45702	-0.9243	9	0.62326	D	0.03	-5.4744	20.6593	0.99626	0.0:1.0:0.0:0.0	.	413	Q2TAL8	QRIC1_HUMAN	I	413	.	ENSP00000350094:V413I	V	-	1	0	QRICH1	49069400	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.051000	0.57412	2.885000	0.99019	0.655000	0.94253	GTC		0.537	QRICH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345669.1	NM_017730		11	45	0	0	0	1	0	11	45					T	49094396	C	T	49094396	3	4	435	1	0	0	0	0	1	0	0	0	12879	478	17	3	1125	3	QRICH1	3	49094396	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	41095	49094396	148928034	1804	22729											
USP19	10869	broad.mit.edu	37	chr3	49148431	49148431	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccgtgtgaagaggttgaggCactggtccagggtgaagtgg	8	8	19	6	1	0	4	0	3	0	1	1	4	1	4	2	5	0	2	2	5	2	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:49148431C>T	ENST00000398888.2	-	22	3506	c.3188G>A	c.(3187-3189)tGc>tAc	p.C1063Y	USP19_ENST00000398892.3_Missense_Mutation_p.C1103Y|USP19_ENST00000417901.1_Missense_Mutation_p.C1166Y|USP19_ENST00000398898.2_Missense_Mutation_p.C1103Y|USP19_ENST00000434032.2_Missense_Mutation_p.C1164Y|USP19_ENST00000398896.1_Missense_Mutation_p.C871Y|USP19_ENST00000453664.1_Missense_Mutation_p.C1154Y	NM_006677.2	NP_006668.1	O94966	UBP19_HUMAN	ubiquitin specific peptidase 19	1063	USP.				ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|negative regulation of skeletal muscle tissue development (GO:0048642)|positive regulation of cell cycle process (GO:0090068)|protein deubiquitination (GO:0016579)|regulation of cellular response to hypoxia (GO:1900037)|regulation of protein stability (GO:0031647)|response to endoplasmic reticulum stress (GO:0034976)|skeletal muscle atrophy (GO:0014732)	cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)|ubiquitin-specific protease activity (GO:0004843)			NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(10)|lung(5)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		GAGGTTGAGGCACTGGTCCAG	0.612																																						ENST00000453664.1																			0				NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(10)|lung(5)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						c.(3460-3462)tGc>tAc		ubiquitin specific peptidase 19							55	65	62					3																	49148431		2011	4165	6176	SO:0001583	missense	10869				ER-associated protein catabolic process|positive regulation of cell cycle process|protein deubiquitination|regulation of protein stability|response to endoplasmic reticulum stress|skeletal muscle atrophy	endoplasmic reticulum membrane|integral to membrane	ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding	g.chr3:49148431C>T	AB020698	CCDS43090.1, CCDS56254.1, CCDS56255.1, CCDS56256.1	3p21.31	2005-10-13	2005-08-08		ENSG00000172046	ENSG00000172046		"Zinc fingers, MYND-type", "Ubiquitin-specific peptidases"	12617	protein-coding gene	gene with protein product		614471	"ubiquitin specific protease 19"			12838346	Standard	NM_001199160		Approved	KIAA0891, ZMYND9	uc011bch.2	O94966	OTTHUMG00000133611	ENST00000398888.2:c.3188G>A	3.37:g.49148431C>T	ENSP00000381863:p.Cys1063Tyr					USP19_ENST00000434032.2_Missense_Mutation_p.C1164Y|USP19_ENST00000417901.1_Missense_Mutation_p.C1166Y|USP19_ENST00000398892.3_Missense_Mutation_p.C1103Y|USP19_ENST00000398888.2_Missense_Mutation_p.C1063Y|USP19_ENST00000398896.1_Missense_Mutation_p.C871Y|USP19_ENST00000398898.2_Missense_Mutation_p.C1103Y	p.C1154Y	NM_001199161.1|NM_001199162.1	NP_001186090.1|NP_001186091.1	O94966	UBP19_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	23	3779	-			1063					A5PKX8|A6H8U2|B4DGT3|B4DTZ0|E7EN22|E7ETS0|E9PEG8|Q3KQW4|Q641Q9|Q6NZY8|Q86XV9	Missense_Mutation	SNP	ENST00000398888.2	37	c.3461G>A	CCDS43090.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.337832	0.81911	.	.	ENSG00000172046	ENST00000398896;ENST00000398898;ENST00000417901;ENST00000453664;ENST00000398892;ENST00000398888;ENST00000434032	T;T;T;T;T;T;T	0.35605	1.3;1.3;1.3;1.3;1.3;1.3;1.3	5.76	5.76	0.90799	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.079988	0.85682	D	0.000000	T	0.75155	0.3811	H	0.97051	3.93	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;0.999;0.999;1.0	D;D;D;D;D	0.97110	0.999;0.999;0.998;0.998;1.0	D	0.83524	0.0087	10	0.87932	D	0	-17.5838	19.9857	0.97347	0.0:1.0:0.0:0.0	.	1164;1154;1063;1103;871	E9PEG8;E7EN22;O94966;B5MEG5;E7ESU0	.;.;UBP19_HUMAN;.;.	Y	871;1103;1166;1154;1103;1063;1164	ENSP00000381870:C871Y;ENSP00000381872:C1103Y;ENSP00000395260:C1166Y;ENSP00000400090:C1154Y;ENSP00000381867:C1103Y;ENSP00000381863:C1063Y;ENSP00000401197:C1164Y	ENSP00000381863:C1063Y	C	-	2	0	USP19	49123435	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.719000	0.84751	2.706000	0.92434	0.655000	0.94253	TGC		0.612	USP19-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000257721.1	NM_006677		13	35	0	0	0	1	0	13	35					T	49148431	C	T	49148431	3	4	435	1	0	0	0	0	1	0	0	0	17047	710	25	3	788	3	USP19	3	49148431	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	54035	49148431	148873999	1805	22730											
USP19	10869	broad.mit.edu	37	chr3	49153358	49153358	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggacctgtcggcacggcaacCtttgcaccacccactgcacc	8	6	9	18	2	0	0	0	0	0	0	1	1	0	1	5	3	3	4	5	3	1	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:49153358C>A	ENST00000398888.2	-	10	1500	c.1182G>T	c.(1180-1182)aaG>aaT	p.K394N	USP19_ENST00000398892.3_Missense_Mutation_p.K434N|USP19_ENST00000417901.1_Missense_Mutation_p.K497N|USP19_ENST00000398898.2_Missense_Mutation_p.K434N|USP19_ENST00000434032.2_Missense_Mutation_p.K495N|USP19_ENST00000398896.1_Missense_Mutation_p.K202N|USP19_ENST00000488993.1_5'Flank|USP19_ENST00000453664.1_Missense_Mutation_p.K485N	NM_006677.2	NP_006668.1	O94966	UBP19_HUMAN	ubiquitin specific peptidase 19	394					ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|negative regulation of skeletal muscle tissue development (GO:0048642)|positive regulation of cell cycle process (GO:0090068)|protein deubiquitination (GO:0016579)|regulation of cellular response to hypoxia (GO:1900037)|regulation of protein stability (GO:0031647)|response to endoplasmic reticulum stress (GO:0034976)|skeletal muscle atrophy (GO:0014732)	cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)|ubiquitin-specific protease activity (GO:0004843)			NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(10)|lung(5)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		GCACGGCAACCTTTGCACCAC	0.617																																						ENST00000453664.1																			0				NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(10)|lung(5)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						c.(1453-1455)aaG>aaT		ubiquitin specific peptidase 19							46	49	48					3																	49153358		2009	4171	6180	SO:0001583	missense	10869				ER-associated protein catabolic process|positive regulation of cell cycle process|protein deubiquitination|regulation of protein stability|response to endoplasmic reticulum stress|skeletal muscle atrophy	endoplasmic reticulum membrane|integral to membrane	ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding	g.chr3:49153358C>A	AB020698	CCDS43090.1, CCDS56254.1, CCDS56255.1, CCDS56256.1	3p21.31	2005-10-13	2005-08-08		ENSG00000172046	ENSG00000172046		"Zinc fingers, MYND-type", "Ubiquitin-specific peptidases"	12617	protein-coding gene	gene with protein product		614471	"ubiquitin specific protease 19"			12838346	Standard	NM_001199160		Approved	KIAA0891, ZMYND9	uc011bch.2	O94966	OTTHUMG00000133611	ENST00000398888.2:c.1182G>T	3.37:g.49153358C>A	ENSP00000381863:p.Lys394Asn					USP19_ENST00000434032.2_Missense_Mutation_p.K495N|USP19_ENST00000417901.1_Missense_Mutation_p.K497N|USP19_ENST00000398892.3_Missense_Mutation_p.K434N|USP19_ENST00000398888.2_Missense_Mutation_p.K394N|USP19_ENST00000398896.1_Missense_Mutation_p.K202N|USP19_ENST00000398898.2_Missense_Mutation_p.K434N	p.K485N	NM_001199161.1|NM_001199162.1	NP_001186090.1|NP_001186091.1	O94966	UBP19_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	11	1773	-			394					A5PKX8|A6H8U2|B4DGT3|B4DTZ0|E7EN22|E7ETS0|E9PEG8|Q3KQW4|Q641Q9|Q6NZY8|Q86XV9	Missense_Mutation	SNP	ENST00000398888.2	37	c.1455G>T	CCDS43090.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.20|19.20	3.781298|3.781298	0.70222|0.70222	.|.	.|.	ENSG00000172046|ENSG00000172046	ENST00000425298|ENST00000398896;ENST00000398898;ENST00000417901;ENST00000453664;ENST00000398892;ENST00000398888;ENST00000434032;ENST00000306026	.|T;T;T;T;T;T;T;T	.|0.46819	.|1.97;1.91;2.01;1.91;1.89;2.0;1.9;0.86	6.17|6.17	6.17|6.17	0.99709|0.99709	.|Domain of unknown function DUF1872 (1);HSP20-like chaperone (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.67173|0.67173	0.2865|0.2865	L|L	0.55481|0.55481	1.735|1.735	0.80722|0.80722	D|D	1|1	.|D;D;D;D;D;D;D	.|0.89917	.|1.0;1.0;1.0;1.0;1.0;1.0;1.0	.|D;D;D;D;D;D;D	.|0.91635	.|0.993;0.999;0.999;0.999;0.998;0.992;0.976	T|T	0.62393|0.62393	-0.6864|-0.6864	6|10	0.87932|0.48119	D|T	0|0.1	-31.6666|-31.6666	20.4745|20.4745	0.99168|0.99168	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|560;495;485;394;434;480;202	.|A5PKX8;E9PEG8;E7EN22;O94966;B5MEG5;O94966-2;E7ESU0	.|.;.;.;UBP19_HUMAN;.;.;.	C|N	482|202;434;497;485;434;394;495;482	.|ENSP00000381870:K202N;ENSP00000381872:K434N;ENSP00000395260:K497N;ENSP00000400090:K485N;ENSP00000381867:K434N;ENSP00000381863:K394N;ENSP00000401197:K495N;ENSP00000303503:K482N	ENSP00000412679:G482C|ENSP00000303503:K482N	G|K	-|-	1|3	0|2	USP19|USP19	49128362|49128362	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	5.644000|5.644000	0.67902|0.67902	2.941000|2.941000	0.99782|0.99782	0.655000|0.655000	0.94253|0.94253	GGT|AAG		0.617	USP19-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000257721.1	NM_006677		17	30	1	0	2.94398e-08	1	3.10271e-08	17	30					A	49153358	C	A	49153358	3	1	435	1	0	0	0	0	1	0	0	0	17047	680	24	5	2842	5	USP19	3	49153358	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	4927	49153358	148869072	1806	22731											
LAMB2	3913	broad.mit.edu	37	chr3	49158715	49158715	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gatggcttgaagcacgctgcGcatcctggcctccaacccgt	7	8	11	15	3	0	1	0	1	0	0	2	2	2	1	4	2	3	4	4	2	2	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:49158715G>A	ENST00000418109.1	-	33	5505	c.5341C>T	c.(5341-5343)Cgc>Tgc	p.R1781C	USP19_ENST00000398892.3_5'Flank|USP19_ENST00000417901.1_5'Flank|USP19_ENST00000434032.2_5'Flank|USP19_ENST00000488993.1_5'Flank|USP19_ENST00000398888.2_5'Flank|USP19_ENST00000398898.2_5'Flank|USP19_ENST00000453664.1_5'Flank|LAMB2_ENST00000305544.4_Missense_Mutation_p.R1781C	NM_002292.3	NP_002283.3	P55268	LAMB2_HUMAN	laminin, beta 2 (laminin S)	1781	Domain I.				astrocyte development (GO:0014002)|axon extension involved in regeneration (GO:0048677)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|metanephric glomerular basement membrane development (GO:0072274)|metanephric glomerular visceral epithelial cell development (GO:0072249)|neuromuscular junction development (GO:0007528)|retina development in camera-type eye (GO:0060041)|Schwann cell development (GO:0014044)|visual perception (GO:0007601)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-11 complex (GO:0043260)|laminin-3 complex (GO:0005608)|synapse (GO:0045202)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|endometrium(15)|kidney(3)|large_intestine(6)|lung(21)|ovary(4)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		AGCACGCTGCGCATCCTGGCC	0.582																																						ENST00000418109.1																			0				NS(1)|breast(1)|endometrium(15)|kidney(3)|large_intestine(6)|lung(21)|ovary(4)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61						c.(5341-5343)Cgc>Tgc		laminin, beta 2 (laminin S)							118	97	104					3																	49158715		2203	4300	6503	SO:0001583	missense	3913				cell adhesion	laminin-11 complex|laminin-3 complex	structural molecule activity	g.chr3:49158715G>A		CCDS2789.1	3p21.3-p21.2	2013-03-01			ENSG00000172037	ENSG00000172037		"Laminins"	6487	protein-coding gene	gene with protein product	"laminin S"	150325		LAMS		2922051, 10393422	Standard	NM_002292		Approved		uc003cwe.3	P55268	OTTHUMG00000156807	ENST00000418109.1:c.5341C>T	3.37:g.49158715G>A	ENSP00000388325:p.Arg1781Cys					LAMB2_ENST00000305544.4_Missense_Mutation_p.R1781C	p.R1781C	NM_002292.3	NP_002283.3	P55268	LAMB2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	33	5505	-			1781			Domain I.		Q16321	Missense_Mutation	SNP	ENST00000418109.1	37	c.5341C>T	CCDS2789.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.306981	0.81247	.	.	ENSG00000172037	ENST00000418109;ENST00000305544	T;T	0.35789	1.29;1.29	5.27	4.31	0.51392	.	0.126311	0.52532	D	0.000080	T	0.43010	0.1228	L	0.50333	1.59	0.58432	D	0.999998	D	0.76494	0.999	P	0.53689	0.732	T	0.36648	-0.9739	10	0.66056	D	0.02	.	10.6758	0.45785	0.0:0.0:0.5672:0.4328	.	1781	P55268	LAMB2_HUMAN	C	1781	ENSP00000388325:R1781C;ENSP00000307156:R1781C	ENSP00000307156:R1781C	R	-	1	0	LAMB2	49133719	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.463000	0.45058	2.449000	0.82847	0.561000	0.74099	CGC		0.582	LAMB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345939.1	NM_002292		14	30	0	0	0	1	0	14	30					A	49158715	G	A	49158715	3	1	435	1	0	0	0	0	1	0	0	0	8611	1087	38	1	59	1	LAMB2	3	49158715	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	5357	49158715	148863715	1807	22732											
LAMB2	3913	broad.mit.edu	37	chr3	49159636	49159636	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagtagctgctcggcacgacGcacatctcctacagtacgtg	9	8	10	14	4	1	0	0	0	1	0	3	1	1	0	1	1	4	6	1	1	3	3	rs374187759		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:49159636G>A	ENST00000418109.1	-	29	4905	c.4741C>T	c.(4741-4743)Cgt>Tgt	p.R1581C	USP19_ENST00000398892.3_5'Flank|USP19_ENST00000417901.1_5'Flank|USP19_ENST00000434032.2_5'Flank|USP19_ENST00000488993.1_5'Flank|USP19_ENST00000398888.2_5'Flank|USP19_ENST00000398898.2_5'Flank|USP19_ENST00000453664.1_5'Flank|LAMB2_ENST00000464891.1_5'Flank|LAMB2_ENST00000305544.4_Missense_Mutation_p.R1581C	NM_002292.3	NP_002283.3	P55268	LAMB2_HUMAN	laminin, beta 2 (laminin S)	1581	Domain I.				astrocyte development (GO:0014002)|axon extension involved in regeneration (GO:0048677)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|metanephric glomerular basement membrane development (GO:0072274)|metanephric glomerular visceral epithelial cell development (GO:0072249)|neuromuscular junction development (GO:0007528)|retina development in camera-type eye (GO:0060041)|Schwann cell development (GO:0014044)|visual perception (GO:0007601)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-11 complex (GO:0043260)|laminin-3 complex (GO:0005608)|synapse (GO:0045202)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|endometrium(15)|kidney(3)|large_intestine(6)|lung(21)|ovary(4)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		TCGGCACGACGCACATCTCCT	0.607																																						ENST00000418109.1																			0				NS(1)|breast(1)|endometrium(15)|kidney(3)|large_intestine(6)|lung(21)|ovary(4)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61						c.(4741-4743)Cgt>Tgt		laminin, beta 2 (laminin S)		G	CYS/ARG	0,4406		0,0,2203	66	61	63		4741	5.5	1	3		63	1,8599	1.2+/-3.3	0,1,4299	no	missense	LAMB2	NM_002292.3	180	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	1581/1799	49159636	1,13005	2203	4300	6503	SO:0001583	missense	3913				cell adhesion	laminin-11 complex|laminin-3 complex	structural molecule activity	g.chr3:49159636G>A		CCDS2789.1	3p21.3-p21.2	2013-03-01			ENSG00000172037	ENSG00000172037		"Laminins"	6487	protein-coding gene	gene with protein product	"laminin S"	150325		LAMS		2922051, 10393422	Standard	NM_002292		Approved		uc003cwe.3	P55268	OTTHUMG00000156807	ENST00000418109.1:c.4741C>T	3.37:g.49159636G>A	ENSP00000388325:p.Arg1581Cys					LAMB2_ENST00000305544.4_Missense_Mutation_p.R1581C	p.R1581C	NM_002292.3	NP_002283.3	P55268	LAMB2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	29	4905	-			1581			Domain I.		Q16321	Missense_Mutation	SNP	ENST00000418109.1	37	c.4741C>T	CCDS2789.1	.	.	.	.	.	.	.	.	.	.	G	25.5	4.640412	0.87859	0.0	1.16E-4	ENSG00000172037	ENST00000418109;ENST00000305544	T;T	0.35973	1.28;1.28	5.54	5.54	0.83059	.	0.052753	0.85682	D	0.000000	T	0.52338	0.1728	M	0.61703	1.905	0.80722	D	1	D	0.89917	1.0	P	0.54210	0.745	T	0.52939	-0.8508	10	0.56958	D	0.05	.	19.4812	0.95011	0.0:0.0:1.0:0.0	.	1581	P55268	LAMB2_HUMAN	C	1581	ENSP00000388325:R1581C;ENSP00000307156:R1581C	ENSP00000307156:R1581C	R	-	1	0	LAMB2	49134640	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.433000	0.66520	2.615000	0.88500	0.650000	0.86243	CGT		0.607	LAMB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345939.1	NM_002292		12	21	0	0	0	1	0	12	21					A	49159636	G	A	49159636	3	1	435	1	0	0	0	0	1	0	0	0	8611	1087	38	1	675	1	LAMB2	3	49159636	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	921	49159636	148862794	1808	22733											
LAMB2	3913	broad.mit.edu	37	chr3	49159665	49159665	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctacagtacgtgccaggatcGcatccacatctgccaggctc	9	8	9	15	2	1	0	0	0	1	0	4	1	2	1	3	2	4	3	3	2	2	2	rs371490301		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:49159665G>A	ENST00000418109.1	-	29	4876	c.4712C>T	c.(4711-4713)gCg>gTg	p.A1571V	USP19_ENST00000398892.3_5'Flank|USP19_ENST00000417901.1_5'Flank|USP19_ENST00000434032.2_5'Flank|USP19_ENST00000488993.1_5'Flank|USP19_ENST00000398888.2_5'Flank|USP19_ENST00000398898.2_5'Flank|USP19_ENST00000453664.1_5'Flank|LAMB2_ENST00000464891.1_5'Flank|LAMB2_ENST00000305544.4_Missense_Mutation_p.A1571V	NM_002292.3	NP_002283.3	P55268	LAMB2_HUMAN	laminin, beta 2 (laminin S)	1571	Domain I.				astrocyte development (GO:0014002)|axon extension involved in regeneration (GO:0048677)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|metanephric glomerular basement membrane development (GO:0072274)|metanephric glomerular visceral epithelial cell development (GO:0072249)|neuromuscular junction development (GO:0007528)|retina development in camera-type eye (GO:0060041)|Schwann cell development (GO:0014044)|visual perception (GO:0007601)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-11 complex (GO:0043260)|laminin-3 complex (GO:0005608)|synapse (GO:0045202)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|endometrium(15)|kidney(3)|large_intestine(6)|lung(21)|ovary(4)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		TGCCAGGATCGCATCCACATC	0.627																																						ENST00000418109.1																			0				NS(1)|breast(1)|endometrium(15)|kidney(3)|large_intestine(6)|lung(21)|ovary(4)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61						c.(4711-4713)gCg>gTg		laminin, beta 2 (laminin S)		G	VAL/ALA	1,4405	2.1+/-5.4	0,1,2202	67	61	63		4712	4.7	0.8	3		63	0,8600		0,0,4300	no	missense	LAMB2	NM_002292.3	64	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	1571/1799	49159665	1,13005	2203	4300	6503	SO:0001583	missense	3913				cell adhesion	laminin-11 complex|laminin-3 complex	structural molecule activity	g.chr3:49159665G>A		CCDS2789.1	3p21.3-p21.2	2013-03-01			ENSG00000172037	ENSG00000172037		"Laminins"	6487	protein-coding gene	gene with protein product	"laminin S"	150325		LAMS		2922051, 10393422	Standard	NM_002292		Approved		uc003cwe.3	P55268	OTTHUMG00000156807	ENST00000418109.1:c.4712C>T	3.37:g.49159665G>A	ENSP00000388325:p.Ala1571Val					LAMB2_ENST00000305544.4_Missense_Mutation_p.A1571V	p.A1571V	NM_002292.3	NP_002283.3	P55268	LAMB2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	29	4876	-			1571			Domain I.		Q16321	Missense_Mutation	SNP	ENST00000418109.1	37	c.4712C>T	CCDS2789.1	.	.	.	.	.	.	.	.	.	.	G	10.65	1.408905	0.25378	2.27E-4	0.0	ENSG00000172037	ENST00000418109;ENST00000305544;ENST00000395387	T;T	0.35605	1.3;1.3	5.54	4.67	0.58626	.	0.174606	0.49916	D	0.000123	T	0.30355	0.0762	L	0.43152	1.355	0.58432	D	0.999994	B	0.23937	0.094	B	0.15484	0.013	T	0.05370	-1.0889	10	0.21540	T	0.41	.	14.5854	0.68320	0.0703:0.0:0.9297:0.0	.	1571	P55268	LAMB2_HUMAN	V	1571;1571;338	ENSP00000388325:A1571V;ENSP00000307156:A1571V	ENSP00000307156:A1571V	A	-	2	0	LAMB2	49134669	0.614000	0.27017	0.775000	0.31657	0.590000	0.36582	3.431000	0.52814	1.355000	0.45865	-0.143000	0.13931	GCG		0.627	LAMB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345939.1	NM_002292		14	16	0	0	0	1	0	14	16					A	49159665	G	A	49159665	3	1	435	1	0	0	0	0	1	0	0	0	8611	1087	38	1	704	1	LAMB2	3	49159665	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	29	49159665	148862765	1809	22734											
LAMB2	3913	broad.mit.edu	37	chr3	49161443	49161443	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cacgggcacactggtcacagCgcacaccagacacccctggg	10	3	11	17	2	1	1	1	0	0	1	1	1	1	1	3	3	1	2	3	3	0	0	rs547349180		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:49161443C>T	ENST00000418109.1	-	25	3679	c.3515G>A	c.(3514-3516)cGc>cAc	p.R1172H	LAMB2_ENST00000464891.1_5'Flank|LAMB2_ENST00000305544.4_Missense_Mutation_p.R1172H	NM_002292.3	NP_002283.3	P55268	LAMB2_HUMAN	laminin, beta 2 (laminin S)	1172	Laminin EGF-like 13. {ECO:0000255|PROSITE-ProRule:PRU00460}.				astrocyte development (GO:0014002)|axon extension involved in regeneration (GO:0048677)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|metanephric glomerular basement membrane development (GO:0072274)|metanephric glomerular visceral epithelial cell development (GO:0072249)|neuromuscular junction development (GO:0007528)|retina development in camera-type eye (GO:0060041)|Schwann cell development (GO:0014044)|visual perception (GO:0007601)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-11 complex (GO:0043260)|laminin-3 complex (GO:0005608)|synapse (GO:0045202)	structural molecule activity (GO:0005198)	p.R1172L(1)		NS(1)|breast(1)|endometrium(15)|kidney(3)|large_intestine(6)|lung(21)|ovary(4)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		CTGGTCACAGCGCACACCAGA	0.582													C|||	1	0.000199681	8e-04	0	5008	,	,		19563	0		0	False		,,,				2504	0					ENST00000418109.1																			1	Substitution - Missense(1)	p.R1172L(1)	lung(1)	NS(1)|breast(1)|endometrium(15)|kidney(3)|large_intestine(6)|lung(21)|ovary(4)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61						c.(3514-3516)cGc>cAc		laminin, beta 2 (laminin S)							59	56	57					3																	49161443		2203	4300	6503	SO:0001583	missense	3913				cell adhesion	laminin-11 complex|laminin-3 complex	structural molecule activity	g.chr3:49161443C>T		CCDS2789.1	3p21.3-p21.2	2013-03-01			ENSG00000172037	ENSG00000172037		"Laminins"	6487	protein-coding gene	gene with protein product	"laminin S"	150325		LAMS		2922051, 10393422	Standard	NM_002292		Approved		uc003cwe.3	P55268	OTTHUMG00000156807	ENST00000418109.1:c.3515G>A	3.37:g.49161443C>T	ENSP00000388325:p.Arg1172His					LAMB2_ENST00000305544.4_Missense_Mutation_p.R1172H	p.R1172H	NM_002292.3	NP_002283.3	P55268	LAMB2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	25	3679	-			1172			Laminin EGF-like 13.		Q16321	Missense_Mutation	SNP	ENST00000418109.1	37	c.3515G>A	CCDS2789.1	.	.	.	.	.	.	.	.	.	.	C	28.5	4.922491	0.92319	.	.	ENSG00000172037	ENST00000418109;ENST00000305544	T;T	0.61627	0.09;0.09	5.84	5.84	0.93424	EGF-like, laminin (4);EGF-like region, conserved site (1);	0.000000	0.85682	D	0.000000	T	0.76033	0.3931	M	0.69463	2.115	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.73531	-0.3953	10	0.44086	T	0.13	.	20.1278	0.97990	0.0:1.0:0.0:0.0	.	1172	P55268	LAMB2_HUMAN	H	1172	ENSP00000388325:R1172H;ENSP00000307156:R1172H	ENSP00000307156:R1172H	R	-	2	0	LAMB2	49136447	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.029000	0.70895	2.768000	0.95171	0.561000	0.74099	CGC		0.582	LAMB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345939.1	NM_002292		11	11	0	0	0	1	0	11	11					T	49161443	C	T	49161443	3	4	435	1	0	0	0	0	1	0	0	0	8611	768	27	1	1917	1	LAMB2	3	49161443	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	1778	49161443	148860987	1810	22735											
LAMB2	3913	broad.mit.edu	37	chr3	49169075	49169075	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgggaagtcagccccacagtCataggagaaatatcggtaca	14	7	11	9	1	2	1	2	0	0	1	3	3	2	2	2	3	2	1	2	3	5	3	rs1131785		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:49169075C>T	ENST00000418109.1	-	6	705	c.541G>A	c.(541-543)Gac>Aac	p.D181N	LAMB2_ENST00000305544.4_Missense_Mutation_p.D181N	NM_002292.3	NP_002283.3	P55268	LAMB2_HUMAN	laminin, beta 2 (laminin S)	181	Laminin N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00466}.				astrocyte development (GO:0014002)|axon extension involved in regeneration (GO:0048677)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|metanephric glomerular basement membrane development (GO:0072274)|metanephric glomerular visceral epithelial cell development (GO:0072249)|neuromuscular junction development (GO:0007528)|retina development in camera-type eye (GO:0060041)|Schwann cell development (GO:0014044)|visual perception (GO:0007601)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-11 complex (GO:0043260)|laminin-3 complex (GO:0005608)|synapse (GO:0045202)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|endometrium(15)|kidney(3)|large_intestine(6)|lung(21)|ovary(4)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		GCCCCACAGTCATAGGAGAAA	0.577																																						ENST00000418109.1																			0				NS(1)|breast(1)|endometrium(15)|kidney(3)|large_intestine(6)|lung(21)|ovary(4)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61						c.(541-543)Gac>Aac		laminin, beta 2 (laminin S)							97	102	100					3																	49169075		2203	4300	6503	SO:0001583	missense	3913				cell adhesion	laminin-11 complex|laminin-3 complex	structural molecule activity	g.chr3:49169075C>T		CCDS2789.1	3p21.3-p21.2	2013-03-01			ENSG00000172037	ENSG00000172037		"Laminins"	6487	protein-coding gene	gene with protein product	"laminin S"	150325		LAMS		2922051, 10393422	Standard	NM_002292		Approved		uc003cwe.3	P55268	OTTHUMG00000156807	ENST00000418109.1:c.541G>A	3.37:g.49169075C>T	ENSP00000388325:p.Asp181Asn					LAMB2_ENST00000305544.4_Missense_Mutation_p.D181N	p.D181N	NM_002292.3	NP_002283.3	P55268	LAMB2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	6	705	-			181			Laminin N-terminal.		Q16321	Missense_Mutation	SNP	ENST00000418109.1	37	c.541G>A	CCDS2789.1	.	.	.	.	.	.	.	.	.	.	C	12.93	2.085998	0.36758	.	.	ENSG00000172037	ENST00000418109;ENST00000305544;ENST00000494831	T;T;T	0.76968	-1.06;-1.06;-1.06	4.85	3.98	0.46160	Laminin, N-terminal (3);	0.160261	0.53938	N	0.000056	T	0.62405	0.2425	N	0.16602	0.42	0.80722	D	1	B	0.13594	0.008	B	0.19148	0.024	T	0.56183	-0.8021	10	0.26408	T	0.33	.	12.6443	0.56725	0.0:0.9198:0.0:0.0802	.	181	P55268	LAMB2_HUMAN	N	181;181;32	ENSP00000388325:D181N;ENSP00000307156:D181N;ENSP00000444751:D32N	ENSP00000307156:D181N	D	-	1	0	LAMB2	49144079	0.987000	0.35691	1.000000	0.80357	0.997000	0.91878	2.631000	0.46502	1.281000	0.44480	0.655000	0.94253	GAC		0.577	LAMB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345939.1	NM_002292		18	41	0	0	0	1	0	18	41					T	49169075	C	T	49169075	3	4	435	1	0	0	0	0	1	0	0	0	8611	826	29	3	4967	3	LAMB2	3	49169075	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	7632	49169075	148853355	1811	22736											
DAG1	1605	broad.mit.edu	37	chr3	49568797	49568797	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aggcccctgccagggagggcGcaatgtctgctcagcttggc	6	7	15	13	1	2	0	1	0	1	0	2	1	2	1	3	4	3	3	3	4	1	1	rs78720195	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:49568797G>A	ENST00000539901.1	+	3	1411	c.853G>A	c.(853-855)Gca>Aca	p.A285T	DAG1_ENST00000308775.2_Missense_Mutation_p.A285T|DAG1_ENST00000538711.1_Missense_Mutation_p.A285T|DAG1_ENST00000545947.1_Missense_Mutation_p.A285T|DAG1_ENST00000541308.1_Missense_Mutation_p.A285T|DAG1_ENST00000515359.2_Missense_Mutation_p.A285T	NM_001177644.2	NP_001171115	Q14118	DAG1_HUMAN	dystroglycan 1 (dystrophin-associated glycoprotein 1)	285	Required for laminin recognition.				basement membrane organization (GO:0071711)|branching involved in salivary gland morphogenesis (GO:0060445)|calcium-dependent cell-matrix adhesion (GO:0016340)|commissural neuron axon guidance (GO:0071679)|cytoskeletal anchoring at plasma membrane (GO:0007016)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|extracellular matrix organization (GO:0030198)|membrane protein ectodomain proteolysis (GO:0006509)|microtubule anchoring (GO:0034453)|modulation by virus of host morphology or physiology (GO:0019048)|morphogenesis of an epithelial sheet (GO:0002011)|myelination in peripheral nervous system (GO:0022011)|negative regulation of cell migration (GO:0030336)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of protein kinase B signaling (GO:0051898)|nerve maturation (GO:0021682)|NLS-bearing protein import into nucleus (GO:0006607)|response to peptide hormone (GO:0043434)	basement membrane (GO:0005604)|basolateral plasma membrane (GO:0016323)|cell outer membrane (GO:0009279)|cell-cell adherens junction (GO:0005913)|contractile ring (GO:0070938)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dystroglycan complex (GO:0016011)|dystrophin-associated glycoprotein complex (GO:0016010)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|membrane raft (GO:0045121)|node of Ranvier (GO:0033268)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)	actin binding (GO:0003779)|alpha-actinin binding (GO:0051393)|calcium ion binding (GO:0005509)|laminin-1 binding (GO:0043237)|SH2 domain binding (GO:0042169)|structural constituent of muscle (GO:0008307)|tubulin binding (GO:0015631)|vinculin binding (GO:0017166)|virus receptor activity (GO:0001618)			NS(1)|autonomic_ganglia(2)|breast(2)|endometrium(1)|large_intestine(8)|lung(5)|ovary(2)|prostate(1)|skin(1)	23				BRCA - Breast invasive adenocarcinoma(193;5.13e-05)|Kidney(197;0.00241)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)		CAGGGAGGGCGCAATGTCTGC	0.602													G|||	2	0.000399361	0	0	5008	,	,		18147	0.001		0	False		,,,				2504	0.001					ENST00000545947.1																			0				NS(1)|autonomic_ganglia(2)|breast(2)|endometrium(1)|large_intestine(8)|lung(5)|ovary(2)|prostate(1)|skin(1)	23						c.(853-855)Gca>Aca		dystroglycan 1 (dystrophin-associated glycoprotein 1)		G	THR/ALA,THR/ALA,THR/ALA,THR/ALA,THR/ALA,THR/ALA,THR/ALA,THR/ALA,THR/ALA,THR/ALA,THR/ALA,THR/ALA,THR/ALA	1,4405	2.1+/-5.4	0,1,2202	81	76	78		853,853,853,853,853,853,853,853,853,853,853,853,853	-2.7	0	3	dbSNP_131	78	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense,missense,missense,missense,missense,missense,missense,missense,missense,missense	DAG1	NM_001165928.2,NM_001177634.1,NM_001177635.1,NM_001177636.1,NM_001177637.1,NM_001177638.1,NM_001177639.1,NM_001177640.1,NM_001177641.1,NM_001177642.1,NM_001177643.1,NM_001177644.1,NM_004393.4	58,58,58,58,58,58,58,58,58,58,58,58,58	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	benign,benign,benign,benign,benign,benign,benign,benign,benign,benign,benign,benign,benign	285/896,285/896,285/896,285/896,285/896,285/896,285/896,285/896,285/896,285/896,285/896,285/896,285/896	49568797	2,13004	2203	4300	6503	SO:0001583	missense	1605				cytoskeletal anchoring at plasma membrane|interspecies interaction between organisms|microtubule anchoring|negative regulation of cell migration|negative regulation of MAPKKK cascade|negative regulation of protein kinase B signaling cascade	basement membrane|contractile ring|cytoplasm|cytoskeleton|dystrophin-associated glycoprotein complex|extracellular space|filopodium|integral to membrane|integral to membrane of membrane fraction|lamellipodium|nucleoplasm	actin binding|alpha-actinin binding|calcium ion binding|laminin-1 binding|receptor activity|structural constituent of muscle|tubulin binding|vinculin binding	g.chr3:49568797G>A	L19711	CCDS2799.1	3p21	2014-09-17			ENSG00000173402	ENSG00000173402			2666	protein-coding gene	gene with protein product	"alpha-dystroglycan", "dystrophin-associated glycoprotein-1", "beta-dystroglycan"	128239				7774920, 1741056	Standard	NM_001177643		Approved	A3a, 156DAG, AGRNR, DAG	uc021wyd.1	Q14118	OTTHUMG00000156869	ENST00000539901.1:c.853G>A	3.37:g.49568797G>A	ENSP00000439334:p.Ala285Thr					DAG1_ENST00000539901.1_Missense_Mutation_p.A285T|DAG1_ENST00000515359.2_Missense_Mutation_p.A285T|DAG1_ENST00000538711.1_Missense_Mutation_p.A285T|DAG1_ENST00000308775.2_Missense_Mutation_p.A285T|DAG1_ENST00000541308.1_Missense_Mutation_p.A285T	p.A285T	NM_001177634.2	NP_001171105.1	Q14118	DAG1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;5.13e-05)|Kidney(197;0.00241)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)	6	1575	+			285			Required for laminin recognition.		A8K6M7|Q969J9	Missense_Mutation	SNP	ENST00000539901.1	37	c.853G>A	CCDS2799.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	0.511	-0.866497	0.02590	2.27E-4	1.16E-4	ENSG00000173402	ENST00000515359;ENST00000308775;ENST00000545947;ENST00000541308;ENST00000539901;ENST00000538711;ENST00000415315	T;T;T;T;T;T	0.75477	-0.94;-0.94;-0.94;-0.94;-0.94;-0.94	5.9	-2.7	0.06004	.	0.238843	0.48286	N	0.000195	T	0.32645	0.0836	N	0.00483	-1.445	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.47535	-0.9110	10	0.02654	T	1	-2.2098	12.3909	0.55358	0.7617:0.0:0.2383:0.0	.	285	Q14118	DAG1_HUMAN	T	285;285;285;285;285;285;84	ENSP00000440705:A285T;ENSP00000312435:A285T;ENSP00000442600:A285T;ENSP00000440590:A285T;ENSP00000439334:A285T;ENSP00000438421:A285T	ENSP00000312435:A285T	A	+	1	0	DAG1	49543801	0.120000	0.22244	0.000000	0.03702	0.933000	0.57130	0.832000	0.27490	-0.377000	0.07930	-0.163000	0.13421	GCA		0.602	DAG1-203	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346326.1			15	21	0	0	0	1	0	15	21					A	49568797	G	A	49568797	3	1	435	1	0	0	0	0	1	0	0	0	4225	1087	38	1	859	1	DAG1	3	49568797	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	399722	49568797	148453633	1812	22737											
BSN	8927	broad.mit.edu	37	chr3	49690940	49690940	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggtaccagtcccacccagctCgctgcccctgtgtccttctc	4	10	8	19	1	1	0	0	0	1	0	5	0	3	0	6	1	3	3	6	1	1	2	rs376677158		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:49690940C>T	ENST00000296452.4	+	5	4065	c.3951C>T	c.(3949-3951)ctC>ctT	p.L1317L		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	1317					synaptic transmission (GO:0007268)	axon (GO:0030424)|cell junction (GO:0030054)|dendrite (GO:0030425)|neuron projection terminus (GO:0044306)|nucleus (GO:0005634)|presynaptic cytoskeletal matrix assembled at active zones (GO:0048788)	metal ion binding (GO:0046872)			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		CCACCCAGCTCGCTGCCCCTG	0.547																																						ENST00000296452.4																			0				breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106						c.(3949-3951)ctC>ctT		bassoon presynaptic cytomatrix protein							63	66	65					3																	49690940		2203	4300	6503	SO:0001819	synonymous_variant	8927				synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding	g.chr3:49690940C>T	AF052224	CCDS2800.1	3p21	2013-01-07	2013-01-07		ENSG00000164061	ENSG00000164061			1117	protein-coding gene	gene with protein product	"zinc finger protein 231", "neuronal double zinc finger protein"	604020	"bassoon (presynaptic cytomatrix protein)"	ZNF231		9806829, 10329005	Standard	NM_003458		Approved		uc003cxe.4	Q9UPA5	OTTHUMG00000133750	ENST00000296452.4:c.3951C>T	3.37:g.49690940C>T							p.L1317L	NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN		BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)	5	4065	+			1317					O43161|Q7LGH3	Silent	SNP	ENST00000296452.4	37	c.3951C>T	CCDS2800.1																																																																																				0.547	BSN-001	KNOWN	NMD_exception|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000258164.1	NM_003458		14	32	0	0	0	1	0	14	32					T	49690940	C	T	49690940	2	4	435	1	0	0	0	0	0	0	0	1	1530	871	31	2		2	BSN	3	49690940	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	122143	49690940	148331490	1813	22738											
BSN	8927	broad.mit.edu	37	chr3	49691866	49691866	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cagtgctggtgcagatgggcCcctggcactatatggctggg	6	9	16	10	0	0	1	0	0	0	1	0	1	0	1	2	5	2	4	2	5	2	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:49691866C>T	ENST00000296452.4	+	5	4991	c.4877C>T	c.(4876-4878)cCc>cTc	p.P1626L		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	1626					synaptic transmission (GO:0007268)	axon (GO:0030424)|cell junction (GO:0030054)|dendrite (GO:0030425)|neuron projection terminus (GO:0044306)|nucleus (GO:0005634)|presynaptic cytoskeletal matrix assembled at active zones (GO:0048788)	metal ion binding (GO:0046872)			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		GCAGATGGGCCCCTGGCACTA	0.652																																						ENST00000296452.4																			0				breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106						c.(4876-4878)cCc>cTc		bassoon presynaptic cytomatrix protein							35	35	35					3																	49691866		2203	4300	6503	SO:0001583	missense	8927				synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding	g.chr3:49691866C>T	AF052224	CCDS2800.1	3p21	2013-01-07	2013-01-07		ENSG00000164061	ENSG00000164061			1117	protein-coding gene	gene with protein product	"zinc finger protein 231", "neuronal double zinc finger protein"	604020	"bassoon (presynaptic cytomatrix protein)"	ZNF231		9806829, 10329005	Standard	NM_003458		Approved		uc003cxe.4	Q9UPA5	OTTHUMG00000133750	ENST00000296452.4:c.4877C>T	3.37:g.49691866C>T	ENSP00000296452:p.Pro1626Leu						p.P1626L	NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN		BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)	5	4991	+			1626					O43161|Q7LGH3	Missense_Mutation	SNP	ENST00000296452.4	37	c.4877C>T	CCDS2800.1	.	.	.	.	.	.	.	.	.	.	C	6.678	0.493642	0.12702	.	.	ENSG00000164061	ENST00000296452	T	0.16324	2.35	5.33	3.35	0.38373	.	0.537042	0.19700	N	0.108077	T	0.08714	0.0216	N	0.19112	0.55	0.41195	D	0.986337	B	0.02656	0.0	B	0.04013	0.001	T	0.24512	-1.0158	10	0.31617	T	0.26	.	3.3839	0.07264	0.4581:0.3763:0.0:0.1656	.	1626	Q9UPA5	BSN_HUMAN	L	1626	ENSP00000296452:P1626L	ENSP00000296452:P1626L	P	+	2	0	BSN	49666870	0.023000	0.18921	0.977000	0.42913	0.582000	0.36321	1.185000	0.32065	2.503000	0.84419	0.561000	0.74099	CCC		0.652	BSN-001	KNOWN	NMD_exception|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000258164.1	NM_003458		11	10	0	0	0	1	0	11	10					T	49691866	C	T	49691866	3	4	435	1	0	0	0	0	1	0	0	0	1530	623	22	3	4895	3	BSN	3	49691866	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	926	49691866	148330564	1814	22739											
BSN	8927	broad.mit.edu	37	chr3	49693650	49693650	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cagtcctgcggcccatggtgCgtggtggcatgtacaggcct	5	9	15	12	2	0	0	0	0	0	0	1	0	1	0	3	5	3	2	3	5	1	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:49693650C>T	ENST00000296452.4	+	5	6775	c.6661C>T	c.(6661-6663)Cgt>Tgt	p.R2221C		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	2221					synaptic transmission (GO:0007268)	axon (GO:0030424)|cell junction (GO:0030054)|dendrite (GO:0030425)|neuron projection terminus (GO:0044306)|nucleus (GO:0005634)|presynaptic cytoskeletal matrix assembled at active zones (GO:0048788)	metal ion binding (GO:0046872)			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		GCCCATGGTGCGTGGTGGCAT	0.587																																						ENST00000296452.4																			0				breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106						c.(6661-6663)Cgt>Tgt		bassoon presynaptic cytomatrix protein							71	60	64					3																	49693650		2203	4300	6503	SO:0001583	missense	8927				synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding	g.chr3:49693650C>T	AF052224	CCDS2800.1	3p21	2013-01-07	2013-01-07		ENSG00000164061	ENSG00000164061			1117	protein-coding gene	gene with protein product	"zinc finger protein 231", "neuronal double zinc finger protein"	604020	"bassoon (presynaptic cytomatrix protein)"	ZNF231		9806829, 10329005	Standard	NM_003458		Approved		uc003cxe.4	Q9UPA5	OTTHUMG00000133750	ENST00000296452.4:c.6661C>T	3.37:g.49693650C>T	ENSP00000296452:p.Arg2221Cys						p.R2221C	NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN		BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)	5	6775	+			2221					O43161|Q7LGH3	Missense_Mutation	SNP	ENST00000296452.4	37	c.6661C>T	CCDS2800.1	.	.	.	.	.	.	.	.	.	.	C	14.16	2.452444	0.43531	.	.	ENSG00000164061	ENST00000296452	T	0.39592	1.07	5.53	5.53	0.82687	.	0.053948	0.64402	D	0.000001	T	0.60715	0.2290	M	0.70275	2.135	0.80722	D	1	D	0.76494	0.999	P	0.57846	0.828	T	0.64529	-0.6386	10	0.87932	D	0	-7.7979	17.6345	0.88118	0.0:1.0:0.0:0.0	.	2221	Q9UPA5	BSN_HUMAN	C	2221	ENSP00000296452:R2221C	ENSP00000296452:R2221C	R	+	1	0	BSN	49668654	1.000000	0.71417	0.994000	0.49952	0.995000	0.86356	4.587000	0.60991	2.605000	0.88082	0.655000	0.94253	CGT		0.587	BSN-001	KNOWN	NMD_exception|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000258164.1	NM_003458		12	11	0	0	0	1	0	12	11					T	49693650	C	T	49693650	3	4	435	1	0	0	0	0	1	0	0	0	1530	768	27	1	6679	1	BSN	3	49693650	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	1784	49693650	148328780	1815	22740											
APEH	327	broad.mit.edu	37	chr3	49720516	49720516	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttgggccaggaggaccggcGtgtgcccttcaagcagggca	7	6	17	11	2	1	0	1	0	0	0	1	2	1	2	3	5	2	3	3	5	1	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:49720516G>A	ENST00000296456.5	+	21	2430	c.2030G>A	c.(2029-2031)cGt>cAt	p.R677H	APEH_ENST00000438011.1_Missense_Mutation_p.R682H|AC099668.5_ENST00000563780.1_RNA	NM_001640.3	NP_001631.3	P13798	ACPH_HUMAN	acylaminoacyl-peptide hydrolase	677					beta-amyloid metabolic process (GO:0050435)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear membrane (GO:0031965)	omega peptidase activity (GO:0008242)|poly(A) RNA binding (GO:0044822)|serine-type endopeptidase activity (GO:0004252)			endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|stomach(2)|urinary_tract(1)	15				BRCA - Breast invasive adenocarcinoma(193;4.53e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		GAGGACCGGCGTGTGCCCTTC	0.597																																						ENST00000296456.5																			0				endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|stomach(2)|urinary_tract(1)	15						c.(2029-2031)cGt>cAt		acylaminoacyl-peptide hydrolase							94	83	87					3																	49720516		2203	4300	6503	SO:0001583	missense	327				proteolysis	cytoplasm|nuclear membrane	serine-type endopeptidase activity	g.chr3:49720516G>A	D38441	CCDS2801.1	3p21	2013-05-29	2013-05-29		ENSG00000164062	ENSG00000164062	3.4.19.1		586	protein-coding gene	gene with protein product	"acylaminoacyl-peptidase"	102645	"N-acylaminoacyl-peptide hydrolase"	D3F15S2, DNF15S2, D3S48E		2392324	Standard	NM_001640		Approved		uc003cxf.3	P13798	OTTHUMG00000156882	ENST00000296456.5:c.2030G>A	3.37:g.49720516G>A	ENSP00000296456:p.Arg677His					APEH_ENST00000438011.1_Missense_Mutation_p.R682H	p.R677H	NM_001640.3	NP_001631.3	P13798	ACPH_HUMAN		BRCA - Breast invasive adenocarcinoma(193;4.53e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	21	2430	+			677					Q9BQ33|Q9P0Y2	Missense_Mutation	SNP	ENST00000296456.5	37	c.2030G>A	CCDS2801.1	.	.	.	.	.	.	.	.	.	.	G	35	5.420172	0.96111	.	.	ENSG00000164062	ENST00000296456;ENST00000438011	T;T	0.39229	1.09;1.09	5.88	5.88	0.94601	Peptidase S9, prolyl oligopeptidase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.77103	0.4081	H	0.95187	3.635	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.83295	-0.0031	10	0.87932	D	0	-14.5056	20.2422	0.98381	0.0:0.0:1.0:0.0	.	682;677	C9JIF9;P13798	.;ACPH_HUMAN	H	677;682	ENSP00000296456:R677H;ENSP00000415862:R682H	ENSP00000296456:R677H	R	+	2	0	APEH	49695520	1.000000	0.71417	0.978000	0.43139	0.995000	0.86356	9.412000	0.97347	2.782000	0.95742	0.655000	0.94253	CGT		0.597	APEH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346415.2			4	12	0	0	0	1	0	4	12					A	49720516	G	A	49720516	3	1	435	1	0	0	0	0	1	0	0	0	768	1145	40	1	2112	1	APEH	3	49720516	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	26866	49720516	148301914	1816	22741											
RNF123	63891	broad.mit.edu	37	chr3	49735362	49735362	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	accatccgctctaccacatgCgtgtacaaaggtgagacctt	11	9	8	13	2	1	1	0	1	1	1	2	2	2	1	4	1	3	2	4	1	3	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:49735362C>T	ENST00000327697.6	+	6	531	c.387C>T	c.(385-387)tgC>tgT	p.C129C	RNF123_ENST00000432042.1_5'UTR	NM_022064.3	NP_071347.2	Q5XPI4	RN123_HUMAN	ring finger protein 123	129	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|Kidney(197;0.00227)|KIRC - Kidney renal clear cell carcinoma(197;0.00255)		CTACCACATGCGTGTACAAAG	0.562																																						ENST00000327697.6																			0				NS(1)|breast(4)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						c.(385-387)tgC>tgT		ring finger protein 123							313	273	286					3																	49735362		2203	4300	6503	SO:0001819	synonymous_variant	63891					cytoplasm	ligase activity|protein binding|zinc ion binding	g.chr3:49735362C>T	AK022627	CCDS33758.1	3p24.3	2008-02-05			ENSG00000164068	ENSG00000164068		"RING-type (C3HC4) zinc fingers"	21148	protein-coding gene	gene with protein product		614472					Standard	NM_022064		Approved	FLJ12565	uc003cxh.4	Q5XPI4	OTTHUMG00000156891	ENST00000327697.6:c.387C>T	3.37:g.49735362C>T						RNF123_ENST00000432042.1_5'UTR	p.C129C	NM_022064.3	NP_071347.2	Q5XPI4	RN123_HUMAN		BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|Kidney(197;0.00227)|KIRC - Kidney renal clear cell carcinoma(197;0.00255)	6	531	+			129			B30.2/SPRY.		A1L4Q3|A6NLS5|Q5I022|Q6PFW4|Q71RH0|Q8IW18|Q9H0M8|Q9H5L8|Q9H9T2	Silent	SNP	ENST00000327697.6	37	c.387C>T	CCDS33758.1																																																																																				0.562	RNF123-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346475.2	NM_022064		90	147	0	0	0	1	0	90	147					T	49735362	C	T	49735362	2	4	435	1	0	0	0	0	0	0	0	1	13433	776	27	1		1	RNF123	3	49735362	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	14846	49735362	148287068	1817	22742											
RNF123	63891	broad.mit.edu	37	chr3	49753836	49753836	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttcccctcaggcctagagagCgtggaccactatcccattct	8	10	8	15	1	2	1	1	0	1	1	4	3	4	2	5	2	1	0	5	2	2	4	rs377690361		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:49753836C>T	ENST00000327697.6	+	35	3570	c.3426C>T	c.(3424-3426)agC>agT	p.S1142S	RNF123_ENST00000433785.1_Silent_p.S254S	NM_022064.3	NP_071347.2	Q5XPI4	RN123_HUMAN	ring finger protein 123	1142					protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|Kidney(197;0.00227)|KIRC - Kidney renal clear cell carcinoma(197;0.00255)		GCCTAGAGAGCGTGGACCACT	0.632																																						ENST00000327697.6																			0				NS(1)|breast(4)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						c.(3424-3426)agC>agT		ring finger protein 123		C		2,4404	4.2+/-10.8	0,2,2201	247	249	248		3426	-5.3	0.8	3		248	0,8600		0,0,4300	no	coding-synonymous	RNF123	NM_022064.2		0,2,6501	TT,TC,CC		0.0,0.0454,0.0154		1142/1315	49753836	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	63891					cytoplasm	ligase activity|protein binding|zinc ion binding	g.chr3:49753836C>T	AK022627	CCDS33758.1	3p24.3	2008-02-05			ENSG00000164068	ENSG00000164068		"RING-type (C3HC4) zinc fingers"	21148	protein-coding gene	gene with protein product		614472					Standard	NM_022064		Approved	FLJ12565	uc003cxh.4	Q5XPI4	OTTHUMG00000156891	ENST00000327697.6:c.3426C>T	3.37:g.49753836C>T						RNF123_ENST00000433785.1_Silent_p.S254S	p.S1142S	NM_022064.3	NP_071347.2	Q5XPI4	RN123_HUMAN		BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|Kidney(197;0.00227)|KIRC - Kidney renal clear cell carcinoma(197;0.00255)	35	3570	+			1142					A1L4Q3|A6NLS5|Q5I022|Q6PFW4|Q71RH0|Q8IW18|Q9H0M8|Q9H5L8|Q9H9T2	Silent	SNP	ENST00000327697.6	37	c.3426C>T	CCDS33758.1																																																																																				0.632	RNF123-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346475.2	NM_022064		81	103	0	0	0	1	0	81	103					T	49753836	C	T	49753836	2	4	435	1	0	0	0	0	0	0	0	1	13433	767	27	1		1	RNF123	3	49753836	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	18474	49753836	148268594	1818	22743											
AMIGO3	29925	broad.mit.edu	37	chr3	49755426	49755426	+	3'UTR	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagcctatggagctggcggaCtcagagccagccttcagctg	8	7	14	12	1	2	1	2	0	0	1	2	4	2	3	3	3	5	2	3	3	1	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:49755426C>T	ENST00000480687.1	-	0	4958				RNF123_ENST00000327697.6_Intron|AMIGO3_ENST00000320431.7_Silent_p.E491E|AMIGO3_ENST00000535833.1_Silent_p.E491E|RNF123_ENST00000433785.1_Intron			Q9Y5P6	GMPPB_HUMAN	GDP-mannose pyrophosphorylase B						cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|GDP-mannose biosynthetic process (GO:0009298)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)|mannose-1-phosphate guanylyltransferase activity (GO:0004475)			endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|skin(1)	6				BRCA - Breast invasive adenocarcinoma(193;4.53e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		AGCTGGCGGACTCAGAGCCAG	0.662																																						ENST00000535833.1																			0				endometrium(1)|pancreas(1)|prostate(2)|urinary_tract(1)	5						c.(1471-1473)gaG>gaA		adhesion molecule with Ig-like domain 3							37	41	40					3																	49755426		2203	4300	6503	SO:0001624	3_prime_UTR_variant	386724				heterophilic cell-cell adhesion	integral to membrane		g.chr3:49755426C>T	AF135421	CCDS2802.1, CCDS2803.1	3p21.31	2008-02-05			ENSG00000173540	ENSG00000173540	2.7.7.22		22932	protein-coding gene	gene with protein product		615320					Standard	NM_013334		Approved	KIAA1851	uc003cxl.1	Q9Y5P6	OTTHUMG00000158151	ENST00000480687.1:c.*3759G>A	3.37:g.49755426C>T						GMPPB_ENST00000480687.1_3'UTR|AMIGO3_ENST00000320431.7_Silent_p.E491E|RNF123_ENST00000327697.6_Intron|RNF123_ENST00000433785.1_Intron	p.E491E			Q86WK7	AMGO3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	10	4923	-			491					A8K6N5|Q9H7U3	Silent	SNP	ENST00000480687.1	37	c.1473G>A	CCDS2803.1																																																																																				0.662	GMPPB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350291.1	NM_013334		13	13	0	0	0	1	0	13	13					T	49755426	C	T	49755426	1	4	435	0	1	0	0	0	0	0	0	0	577	564	20	3		3	AMIGO3	3	49755426	3'UTR	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	1590	49755426	148267004	1819	22744											
AMIGO3	29925	broad.mit.edu	37	chr3	49755492	49755492	+	3'UTR	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aattcctcagctactgccagCtgcacgcggccattgaggcc	8	8	10	15	2	1	1	1	1	0	0	2	1	2	1	4	2	5	3	4	2	2	3	rs149938600		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:49755492C>A	ENST00000480687.1	-	0	4892				RNF123_ENST00000327697.6_Intron|AMIGO3_ENST00000320431.7_Missense_Mutation_p.Q469H|AMIGO3_ENST00000535833.1_Missense_Mutation_p.Q469H|RNF123_ENST00000433785.1_Intron			Q9Y5P6	GMPPB_HUMAN	GDP-mannose pyrophosphorylase B						cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|GDP-mannose biosynthetic process (GO:0009298)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)|mannose-1-phosphate guanylyltransferase activity (GO:0004475)			endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|skin(1)	6				BRCA - Breast invasive adenocarcinoma(193;4.53e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		CTACTGCCAGCTGCACGCGGC	0.637																																						ENST00000535833.1																			0				endometrium(1)|pancreas(1)|prostate(2)|urinary_tract(1)	5						c.(1405-1407)caG>caT		adhesion molecule with Ig-like domain 3		C	,HIS/GLN	1,4405	2.1+/-5.4	0,1,2202	66	65	66		,1407	4.4	1	3	dbSNP_134	66	0,8600		0,0,4300	no	intron,missense	RNF123,AMIGO3	NM_022064.2,NM_198722.2	,24	0,1,6502	AA,AC,CC		0.0,0.0227,0.0077	,probably-damaging	,469/505	49755492	1,13005	2203	4300	6503	SO:0001624	3_prime_UTR_variant	386724				heterophilic cell-cell adhesion	integral to membrane		g.chr3:49755492C>A	AF135421	CCDS2802.1, CCDS2803.1	3p21.31	2008-02-05			ENSG00000173540	ENSG00000173540	2.7.7.22		22932	protein-coding gene	gene with protein product		615320					Standard	NM_013334		Approved	KIAA1851	uc003cxl.1	Q9Y5P6	OTTHUMG00000158151	ENST00000480687.1:c.*3693G>T	3.37:g.49755492C>A						GMPPB_ENST00000480687.1_3'UTR|AMIGO3_ENST00000320431.7_Missense_Mutation_p.Q469H|RNF123_ENST00000327697.6_Intron|RNF123_ENST00000433785.1_Intron	p.Q469H			Q86WK7	AMGO3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	10	4857	-			469					A8K6N5|Q9H7U3	Missense_Mutation	SNP	ENST00000480687.1	37	c.1407G>T	CCDS2803.1	.	.	.	.	.	.	.	.	.	.	C	18.98	3.738608	0.69304	2.27E-4	0.0	ENSG00000176020	ENST00000320431;ENST00000535833	T;T	0.59502	0.26;0.26	5.45	4.38	0.52667	.	0.378197	0.25517	N	0.030135	T	0.51398	0.1672	L	0.36672	1.1	0.80722	D	1	D	0.56968	0.978	P	0.49012	0.598	T	0.54330	-0.8310	10	0.72032	D	0.01	-25.6187	7.7501	0.28892	0.0:0.7314:0.1697:0.0988	.	469	Q86WK7	AMGO3_HUMAN	H	469	ENSP00000323096:Q469H;ENSP00000439268:Q469H	ENSP00000323096:Q469H	Q	-	3	2	AMIGO3	49730496	0.960000	0.32886	1.000000	0.80357	0.984000	0.73092	0.128000	0.15810	2.573000	0.86826	0.561000	0.74099	CAG		0.637	GMPPB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350291.1	NM_013334		22	39	1	0	8.04996e-18	1	8.87193e-18	22	39					A	49755492	C	A	49755492	1	1	435	0	1	0	0	0	0	0	0	0	577	796	28	5		5	AMIGO3	3	49755492	3'UTR	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	66	49755492	148266938	1820	22745											
RNF123	63891	broad.mit.edu	37	chr3	49758036	49758036	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acagccagagcccccagcacCtggcactgctctgccagccc	8	4	9	20	0	1	1	0	0	1	1	1	1	1	1	6	1	6	3	6	1	0	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:49758036C>A	ENST00000327697.6	+	36	3737	c.3593C>A	c.(3592-3594)cCt>cAt	p.P1198H	GMPPB_ENST00000480687.1_3'UTR|RNF123_ENST00000497099.1_3'UTR|AMIGO3_ENST00000320431.7_5'Flank|GMPPB_ENST00000308375.6_3'UTR|AMIGO3_ENST00000535833.1_De_novo_Start_OutOfFrame|RNF123_ENST00000433785.1_Missense_Mutation_p.P310H	NM_022064.3	NP_071347.2	Q5XPI4	RN123_HUMAN	ring finger protein 123	1198					protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|Kidney(197;0.00227)|KIRC - Kidney renal clear cell carcinoma(197;0.00255)		CCCCCAGCACCTGGCACTGCT	0.627																																						ENST00000535833.1																			0				endometrium(1)|pancreas(1)|prostate(2)|urinary_tract(1)	5								adhesion molecule with Ig-like domain 3							51	51	51					3																	49758036		2203	4300	6503	SO:0001583	missense	386724				heterophilic cell-cell adhesion	integral to membrane		g.chr3:49758036C>A	AK022627	CCDS33758.1	3p24.3	2008-02-05			ENSG00000164068	ENSG00000164068		"RING-type (C3HC4) zinc fingers"	21148	protein-coding gene	gene with protein product		614472					Standard	NM_022064		Approved	FLJ12565	uc003cxh.4	Q5XPI4	OTTHUMG00000156891	ENST00000327697.6:c.3593C>A	3.37:g.49758036C>A	ENSP00000328287:p.Pro1198His					GMPPB_ENST00000480687.1_3'UTR|RNF123_ENST00000497099.1_3'UTR|RNF123_ENST00000327697.6_Missense_Mutation_p.P1198H|GMPPB_ENST00000308375.6_3'UTR|RNF123_ENST00000433785.1_Missense_Mutation_p.P310H				Q86WK7	AMGO3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	0	2313	-								A1L4Q3|A6NLS5|Q5I022|Q6PFW4|Q71RH0|Q8IW18|Q9H0M8|Q9H5L8|Q9H9T2	Translation_Start_Site	SNP	ENST00000327697.6	37		CCDS33758.1	.	.	.	.	.	.	.	.	.	.	C	15.41	2.826611	0.50739	.	.	ENSG00000164068	ENST00000327697;ENST00000389066;ENST00000433785	T	0.72282	-0.64	5.29	5.29	0.74685	.	0.445889	0.23487	N	0.047650	T	0.49150	0.1540	N	0.08118	0	0.25702	N	0.985576	B	0.28512	0.214	B	0.31751	0.135	T	0.38243	-0.9670	10	0.40728	T	0.16	-9.0417	7.3037	0.26434	0.0:0.8255:0.0:0.1745	.	1198	Q5XPI4	RN123_HUMAN	H	1198;1198;310	ENSP00000328287:P1198H	ENSP00000328287:P1198H	P	+	2	0	RNF123	49733040	0.646000	0.27295	1.000000	0.80357	0.984000	0.73092	1.975000	0.40569	2.756000	0.94617	0.561000	0.74099	CCT		0.627	RNF123-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346475.2	NM_022064		7	33	1	0	3.09899e-07	1	3.24337e-07	7	33					A	49758036	C	A	49758036	3	1	435	1	0	0	0	0	1	0	0	0	13433	681	24	5	3731	5	RNF123	3	49758036	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	2544	49758036	148264394	1821	22746											
GMPPB	29925	broad.mit.edu	37	chr3	49759462	49759462	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gccaggaatgggaacggatcCgggcatcccgcagcaccgtg	9	4	15	13	4	0	0	0	0	0	0	2	3	2	3	4	4	2	3	4	4	2	0	rs144040971	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:49759462C>T	ENST00000480687.1	-	9	1003	c.887G>A	c.(886-888)cGg>cAg	p.R296Q	AMIGO3_ENST00000320431.7_5'Flank|GMPPB_ENST00000308388.6_Missense_Mutation_p.R296Q|GMPPB_ENST00000308375.6_Missense_Mutation_p.R296Q|AMIGO3_ENST00000535833.1_5'UTR			Q9Y5P6	GMPPB_HUMAN	GDP-mannose pyrophosphorylase B	296					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|GDP-mannose biosynthetic process (GO:0009298)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)|mannose-1-phosphate guanylyltransferase activity (GO:0004475)			endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|skin(1)	6				BRCA - Breast invasive adenocarcinoma(193;4.53e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		GGAACGGATCCGGGCATCCCG	0.662																																						ENST00000480687.1																			0				endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|skin(1)	6						c.(886-888)cGg>cAg		GDP-mannose pyrophosphorylase B		C	GLN/ARG,GLN/ARG	5,4401	9.9+/-24.2	0,5,2198	86	70	75		887,887	1.4	0.9	3	dbSNP_134	75	0,8600		0,0,4300	yes	missense,missense	GMPPB	NM_013334.2,NM_021971.1	43,43	0,5,6498	TT,TC,CC		0.0,0.1135,0.0384	benign,benign	296/388,296/361	49759462	5,13001	2203	4300	6503	SO:0001583	missense	29925				dolichol-linked oligosaccharide biosynthetic process|GDP-mannose biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine		GTP binding|mannose-1-phosphate guanylyltransferase activity	g.chr3:49759462C>T	AF135421	CCDS2802.1, CCDS2803.1	3p21.31	2008-02-05			ENSG00000173540	ENSG00000173540	2.7.7.22		22932	protein-coding gene	gene with protein product		615320					Standard	NM_013334		Approved	KIAA1851	uc003cxl.1	Q9Y5P6	OTTHUMG00000158151	ENST00000480687.1:c.887G>A	3.37:g.49759462C>T	ENSP00000418565:p.Arg296Gln					AMIGO3_ENST00000535833.1_5'UTR|GMPPB_ENST00000308388.6_Missense_Mutation_p.R296Q|GMPPB_ENST00000308375.6_Missense_Mutation_p.R296Q	p.R296Q			Q9Y5P6	GMPPB_HUMAN		BRCA - Breast invasive adenocarcinoma(193;4.53e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	9	1003	-			296					A8K6N5|Q9H7U3	Missense_Mutation	SNP	ENST00000480687.1	37	c.887G>A	CCDS2803.1	.	.	.	.	.	.	.	.	.	.	C	5.086	0.201534	0.09652	0.001135	0.0	ENSG00000173540	ENST00000480687;ENST00000308375;ENST00000308388	D;D;D	0.94457	-3.43;-3.43;-3.43	4.98	1.4	0.22301	.	0.174495	0.48286	D	0.000195	D	0.88202	0.6373	L	0.36672	1.1	0.36476	D	0.867572	B;B	0.18166	0.026;0.025	B;B	0.12156	0.006;0.007	T	0.78768	-0.2075	10	0.18710	T	0.47	-10.3052	8.037	0.30499	0.0:0.4938:0.0:0.5062	.	296;296	Q9Y5P6-2;Q9Y5P6	.;GMPPB_HUMAN	Q	296	ENSP00000418565:R296Q;ENSP00000309092:R296Q;ENSP00000311130:R296Q	ENSP00000309092:R296Q	R	-	2	0	GMPPB	49734466	1.000000	0.71417	0.863000	0.33907	0.204000	0.24138	1.474000	0.35398	0.087000	0.17167	-0.367000	0.07326	CGG		0.662	GMPPB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350291.1	NM_013334		8	15	0	0	0	1	0	8	15					T	49759462	C	T	49759462	3	4	435	1	0	0	0	0	1	0	0	0	6495	652	23	2	280	2	GMPPB	3	49759462	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	1426	49759462	148262968	1822	22747											
GMPPB	29925	broad.mit.edu	37	chr3	49760429	49760429	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	atggagccctcctggccatgGtgccggtggaactgcaccat	7	8	13	13	1	0	0	0	0	0	0	1	2	1	2	5	5	4	1	5	5	1	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:49760429G>A	ENST00000480687.1	-	5	494	c.378C>T	c.(376-378)caC>caT	p.H126H	GMPPB_ENST00000308388.6_Silent_p.H126H|GMPPB_ENST00000308375.6_Silent_p.H126H|AMIGO3_ENST00000535833.1_5'UTR			Q9Y5P6	GMPPB_HUMAN	GDP-mannose pyrophosphorylase B	126			H -> D (in dbSNP:rs34345884).		cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|GDP-mannose biosynthetic process (GO:0009298)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)|mannose-1-phosphate guanylyltransferase activity (GO:0004475)			endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|skin(1)	6				BRCA - Breast invasive adenocarcinoma(193;4.53e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		CCTGGCCATGGTGCCGGTGGA	0.582																																						ENST00000480687.1																			0				endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|skin(1)	6						c.(376-378)caC>caT		GDP-mannose pyrophosphorylase B							48	48	48					3																	49760429		2203	4299	6502	SO:0001819	synonymous_variant	29925				dolichol-linked oligosaccharide biosynthetic process|GDP-mannose biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine		GTP binding|mannose-1-phosphate guanylyltransferase activity	g.chr3:49760429G>A	AF135421	CCDS2802.1, CCDS2803.1	3p21.31	2008-02-05			ENSG00000173540	ENSG00000173540	2.7.7.22		22932	protein-coding gene	gene with protein product		615320					Standard	NM_013334		Approved	KIAA1851	uc003cxl.1	Q9Y5P6	OTTHUMG00000158151	ENST00000480687.1:c.378C>T	3.37:g.49760429G>A						AMIGO3_ENST00000535833.1_5'UTR|GMPPB_ENST00000308388.6_Silent_p.H126H|GMPPB_ENST00000308375.6_Silent_p.H126H	p.H126H			Q9Y5P6	GMPPB_HUMAN		BRCA - Breast invasive adenocarcinoma(193;4.53e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	5	494	-			126		H -> D (in dbSNP:rs34345884).			A8K6N5|Q9H7U3	Silent	SNP	ENST00000480687.1	37	c.378C>T	CCDS2803.1																																																																																				0.582	GMPPB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350291.1	NM_013334		4	27	0	0	0	1	0	4	27					A	49760429	G	A	49760429	2	1	435	1	0	0	0	0	0	0	0	1	6495	1252	44	3		3	GMPPB	3	49760429	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	967	49760429	148262001	1823	22748											
C3orf54	7318	broad.mit.edu	37	chr3	49842153	49842153	+	IGR	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tttgctgacttggtgcacaaCtggatggagctgcctgagac	8	11	13	9	0	0	2	0	2	0	1	0	5	0	4	1	3	5	3	1	3	1	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:49842153C>T	ENST00000333486.3	-	0	3299				MIR5193_ENST00000584510.1_RNA|FAM212A_ENST00000333323.4_Silent_p.N199N	NM_003335.2	NP_003326.2	P41226	UBA7_HUMAN	ubiquitin-like modifier activating enzyme 7						cellular protein modification process (GO:0006464)|cytokine-mediated signaling pathway (GO:0019221)|innate immune response (GO:0045087)|ISG15-protein conjugation (GO:0032020)|modification-dependent protein catabolic process (GO:0019941)|negative regulation of type I interferon production (GO:0032480)|protein ubiquitination (GO:0016567)	cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ISG15 activating enzyme activity (GO:0019782)|ubiquitin activating enzyme activity (GO:0004839)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(15)|large_intestine(4)|lung(7)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;3.58e-06)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		TGGTGCACAACTGGATGGAGC	0.627																																						ENST00000333323.4																			0											c.(595-597)aaC>aaT		family with sequence similarity 212, member A							71	69	70					3																	49842153		2202	4300	6502	SO:0001628	intergenic_variant	389119							g.chr3:49842153C>T	BC006378	CCDS2805.1	3p21	2007-11-30	2007-11-30	2007-11-30	ENSG00000182179	ENSG00000182179		"Ubiquitin-like modifier activating enzymes"	12471	protein-coding gene	gene with protein product	"UBA1, ubiquitin-activating enzyme E1 homolog B (yeast)", "UBA7, ubiquitin-activating enzyme E1"	191325	"ubiquitin-activating enzyme E1-like"	UBE1L		8327486	Standard	NM_003335		Approved	D8, UBE2, UBA1B	uc003cxr.3	P41226	OTTHUMG00000158267		3.37:g.49842153C>T							p.N199N	NM_203370.1	NP_976248.1	Q96EL1	CC054_HUMAN			2	730	+			197					Q9BRB2	Silent	SNP	ENST00000333486.3	37	c.597C>T	CCDS2805.1																																																																																				0.627	UBA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350503.1	NM_003335		16	28	0	0	0	1	0	16	28					T	49842153	C	T	49842153	1	4	435	0	1	0	0	0	0	0	0	0	2233	564	20	3		3	C3orf54	3	49842153	IGR	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	81724	49842153	148180277	1824	22749											
UBA7	7318	broad.mit.edu	37	chr3	49847305	49847305	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agagttcttcaaactcatgcCgggcccactgtggaggaggg	9	8	14	10	1	3	1	2	0	1	1	3	3	3	3	2	4	2	1	2	4	1	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:49847305C>T	ENST00000333486.3	-	15	2005	c.1847G>A	c.(1846-1848)cGg>cAg	p.R616Q	UBA7_ENST00000494212.1_5'Flank	NM_003335.2	NP_003326.2	P41226	UBA7_HUMAN	ubiquitin-like modifier activating enzyme 7	616					cellular protein modification process (GO:0006464)|cytokine-mediated signaling pathway (GO:0019221)|innate immune response (GO:0045087)|ISG15-protein conjugation (GO:0032020)|modification-dependent protein catabolic process (GO:0019941)|negative regulation of type I interferon production (GO:0032480)|protein ubiquitination (GO:0016567)	cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ISG15 activating enzyme activity (GO:0019782)|ubiquitin activating enzyme activity (GO:0004839)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(15)|large_intestine(4)|lung(7)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;3.58e-06)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		AAACTCATGCCGGGCCCACTG	0.582																																						ENST00000333486.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(15)|large_intestine(4)|lung(7)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	33						c.(1846-1848)cGg>cAg		ubiquitin-like modifier activating enzyme 7							91	97	95					3																	49847305		2203	4300	6503	SO:0001583	missense	7318				ISG15-protein conjugation|negative regulation of type I interferon production	cytosol	ATP binding|ISG15 activating enzyme activity|ligase activity	g.chr3:49847305C>T	BC006378	CCDS2805.1	3p21	2007-11-30	2007-11-30	2007-11-30	ENSG00000182179	ENSG00000182179		"Ubiquitin-like modifier activating enzymes"	12471	protein-coding gene	gene with protein product	"UBA1, ubiquitin-activating enzyme E1 homolog B (yeast)", "UBA7, ubiquitin-activating enzyme E1"	191325	"ubiquitin-activating enzyme E1-like"	UBE1L		8327486	Standard	NM_003335		Approved	D8, UBE2, UBA1B	uc003cxr.3	P41226	OTTHUMG00000158267	ENST00000333486.3:c.1847G>A	3.37:g.49847305C>T	ENSP00000333266:p.Arg616Gln						p.R616Q	NM_003335.2	NP_003326.2	P41226	UBA7_HUMAN		BRCA - Breast invasive adenocarcinoma(193;3.58e-06)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)	15	2005	-			616					Q9BRB2	Missense_Mutation	SNP	ENST00000333486.3	37	c.1847G>A	CCDS2805.1	.	.	.	.	.	.	.	.	.	.	C	24.2	4.510430	0.85389	.	.	ENSG00000182179	ENST00000333486	T	0.48522	0.81	6.07	-0.683	0.11335	Molybdenum cofactor biosynthesis, MoeB (1);Ubiquitin-activating enzyme (1);Ubiquitin-like 1 activating enzyme, catalytic cysteine domain (1);	0.301816	0.35525	N	0.003148	T	0.46054	0.1373	L	0.60012	1.86	0.48288	D	0.999623	D	0.59357	0.985	P	0.54499	0.754	T	0.44982	-0.9292	10	0.62326	D	0.03	-12.0257	1.5695	0.02612	0.2615:0.432:0.1277:0.1789	.	616	P41226	UBA7_HUMAN	Q	616	ENSP00000333266:R616Q	ENSP00000333266:R616Q	R	-	2	0	UBA7	49822309	0.565000	0.26610	0.100000	0.21137	0.938000	0.57974	1.465000	0.35299	0.201000	0.20466	0.655000	0.94253	CGG		0.582	UBA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350503.1	NM_003335		29	67	0	0	0	1	0	29	67					T	49847305	C	T	49847305	3	4	435	1	0	0	0	0	1	0	0	0	16830	652	23	2	1231	2	UBA7	3	49847305	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	5152	49847305	148175125	1825	22750											
MST1R	4486	broad.mit.edu	37	chr3	49940296	49940296	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cccgtgtggaagctgtgcacGtattcaatactgtaggagac	10	10	12	9	2	1	1	1	0	0	1	1	3	1	2	1	2	3	4	1	2	5	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:49940296G>A	ENST00000296474.3	-	1	774	c.747C>T	c.(745-747)taC>taT	p.Y249Y	MST1R_ENST00000344206.4_Silent_p.Y249Y|CTD-2330K9.3_ENST00000419183.1_5'Flank|CTD-2330K9.2_ENST00000435478.1_RNA	NM_002447.2	NP_002438	Q04912	RON_HUMAN	macrophage stimulating 1 receptor (c-met-related tyrosine kinase)	249	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				cellular component movement (GO:0006928)|defense response (GO:0006952)|innate immune response (GO:0045087)|macrophage colony-stimulating factor signaling pathway (GO:0038145)|multicellular organismal development (GO:0007275)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|response to virus (GO:0009615)|signal transduction (GO:0007165)|single fertilization (GO:0007338)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|macrophage colony-stimulating factor receptor activity (GO:0005011)			cervix(1)|endometrium(5)|large_intestine(3)|lung(17)|ovary(5)|prostate(2)|skin(1)|urinary_tract(3)	37				BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625)		AGCTGTGCACGTATTCAATAC	0.577																																						ENST00000296474.3																			0				cervix(1)|endometrium(5)|large_intestine(3)|lung(17)|ovary(5)|prostate(2)|skin(1)|urinary_tract(3)	37						c.(745-747)taC>taT		macrophage stimulating 1 receptor (c-met-related tyrosine kinase)							63	58	60					3																	49940296		2203	4300	6503	SO:0001819	synonymous_variant	4486				cellular component movement|defense response|multicellular organismal development|positive regulation of cell proliferation|single fertilization|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|macrophage colony-stimulating factor receptor activity|protein binding	g.chr3:49940296G>A	X70040	CCDS2807.1, CCDS58833.1	3p21	2008-08-18			ENSG00000164078	ENSG00000164078		"CD molecules"	7381	protein-coding gene	gene with protein product		600168	"PTK8 protein tyrosine kinase 8"	RON, PTK8		8386824	Standard	NM_002447		Approved	CDw136, CD136	uc003cxy.4	Q04912	OTTHUMG00000156709	ENST00000296474.3:c.747C>T	3.37:g.49940296G>A						MST1R_ENST00000344206.4_Silent_p.Y249Y|CTD-2330K9.2_ENST00000435478.1_RNA	p.Y249Y	NM_002447.2	NP_002438.2	Q04912	RON_HUMAN		BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625)	1	774	-			249			Sema.		B5A944|B5A945|B5A946|B5A947	Silent	SNP	ENST00000296474.3	37	c.747C>T	CCDS2807.1																																																																																				0.577	MST1R-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000345403.1			13	30	0	0	0	1	0	13	30					A	49940296	G	A	49940296	2	1	435	1	0	0	0	0	0	0	0	1	9891	1140	40	1		1	MST1R	3	49940296	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	92991	49940296	148082134	1826	22751											
MON1A	84315	broad.mit.edu	37	chr3	49948222	49948222	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gatctggtagtagatgtagaGcagctcctgcgccagctctt	8	11	12	10	1	2	2	0	0	2	2	3	3	3	2	2	1	4	6	2	1	3	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:49948222G>T	ENST00000417270.1	-	5	1426	c.733C>A	c.(733-735)Ctc>Atc	p.L245I	MON1A_ENST00000455683.2_Missense_Mutation_p.L172I|MON1A_ENST00000483022.1_5'Flank|MON1A_ENST00000296473.3_Missense_Mutation_p.L334I|CTD-2330K9.3_ENST00000419183.1_Intron			Q86VX9	MON1A_HUMAN	MON1 secretory trafficking family member A	237										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(2)|prostate(1)	13				BRCA - Breast invasive adenocarcinoma(193;4.62e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		TAGATGTAGAGCAGCTCCTGC	0.592																																						ENST00000417270.1																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(2)|prostate(1)	13						c.(733-735)Ctc>Atc		MON1 secretory trafficking family member A							49	47	48					3																	49948222		2203	4300	6503	SO:0001583	missense	84315						protein binding	g.chr3:49948222G>T	AK074404	CCDS2808.2, CCDS46830.1	3p21.31	2013-08-21	2013-08-21		ENSG00000164077	ENSG00000164077			28207	protein-coding gene	gene with protein product		611464	"MON1 homolog A (yeast)"			12477932	Standard	NM_032355		Approved	MGC13272, SAND1	uc003cxz.3	Q86VX9	OTTHUMG00000156737	ENST00000417270.1:c.733C>A	3.37:g.49948222G>T	ENSP00000399613:p.Leu245Ile					MON1A_ENST00000455683.2_Missense_Mutation_p.L172I|CTD-2330K9.3_ENST00000419183.1_Intron|MON1A_ENST00000296473.3_Missense_Mutation_p.L334I	p.L245I			Q86VX9	MON1A_HUMAN		BRCA - Breast invasive adenocarcinoma(193;4.62e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)	5	1426	-			237					B2RDQ1|G5E9N1|Q8NAV7|Q9BRF3	Missense_Mutation	SNP	ENST00000417270.1	37	c.733C>A		.	.	.	.	.	.	.	.	.	.	G	21.7	4.186703	0.78789	.	.	ENSG00000164077	ENST00000296473;ENST00000417270;ENST00000455683	.	.	.	5.62	4.56	0.56223	.	0.116081	0.64402	D	0.000015	T	0.67078	0.2855	L	0.50333	1.59	0.42629	D	0.993371	P;D;P	0.67145	0.843;0.996;0.951	P;P;P	0.61477	0.544;0.889;0.783	T	0.65882	-0.6060	8	.	.	.	-26.0757	15.4113	0.74923	0.0779:0.0:0.9221:0.0	.	75;172;237	Q86VX9-3;G5E9N1;Q86VX9	.;.;MON1A_HUMAN	I	334;245;172	.	.	L	-	1	0	MON1A	49923226	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	7.926000	0.87569	2.654000	0.90174	0.555000	0.69702	CTC		0.592	MON1A-005	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000345538.2	NM_032355		3	30	1	0	6.4e-05	1	6.5734e-05	3	30					T	49948222	G	T	49948222	3	4	435	1	0	0	0	0	1	0	0	0	9698	971	34	5	970	5	MON1A	3	49948222	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	7926	49948222	148074208	1827	22752											
RBM5	10181	broad.mit.edu	37	chr3	50143074	50143074	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttagctgtcaataacatcCgcctcataaaagacaaacag	16	9	5	11	1	2	1	2	0	0	1	3	1	3	1	2	0	3	1	2	0	6	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:50143074C>T	ENST00000347869.3	+	10	962	c.787C>T	c.(787-789)Cgc>Tgc	p.R263C		NM_005778.3	NP_005769.1	P52756	RBM5_HUMAN	RNA binding motif protein 5	263	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				apoptotic process (GO:0006915)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of cell proliferation (GO:0008285)|positive regulation of apoptotic process (GO:0043065)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|spliceosomal complex assembly (GO:0000245)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	DNA binding (GO:0003677)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(2)|cervix(2)|endometrium(3)|large_intestine(4)|lung(6)|prostate(2)	19				BRCA - Breast invasive adenocarcinoma(193;0.000121)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		CAATAACATCCGCCTCATAAA	0.473																																						ENST00000347869.3																			0				breast(2)|cervix(2)|endometrium(3)|large_intestine(4)|lung(6)|prostate(2)	19						c.(787-789)Cgc>Tgc		RNA binding motif protein 5							125	110	115					3																	50143074		2203	4300	6503	SO:0001583	missense	10181				apoptosis|negative regulation of cell proliferation|positive regulation of apoptosis|regulation of alternative nuclear mRNA splicing, via spliceosome|spliceosome assembly	nucleoplasm|spliceosomal complex	DNA binding|mRNA binding|nucleotide binding|protein binding|zinc ion binding	g.chr3:50143074C>T	U23946	CCDS2810.1	3p21.3	2013-08-15			ENSG00000003756	ENSG00000003756		"G patch domain containing", "RNA binding motif (RRM) containing"	9902	protein-coding gene	gene with protein product		606884				10352938, 23935508	Standard	NM_005778		Approved	LUCA15, H37	uc003cyg.3	P52756	OTTHUMG00000156785	ENST00000347869.3:c.787C>T	3.37:g.50143074C>T	ENSP00000343054:p.Arg263Cys						p.R263C	NM_005778.3	NP_005769.1	P52756	RBM5_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000121)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)	10	962	+			263			RRM 2.		B2RA45|B4DM16|B4DMF9|B4DZ63|Q93021|Q9BU14|Q9HDA6|Q9UKY8|Q9UL24	Missense_Mutation	SNP	ENST00000347869.3	37	c.787C>T	CCDS2810.1	.	.	.	.	.	.	.	.	.	.	C	36	5.707209	0.96821	.	.	ENSG00000003756	ENST00000347869;ENST00000543047	T	0.09538	2.97	6.16	6.16	0.99307	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (2);	0.000000	0.85682	D	0.000000	T	0.43831	0.1265	M	0.88241	2.94	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.35475	-0.9787	10	0.56958	D	0.05	-9.603	20.8598	0.99761	0.0:1.0:0.0:0.0	.	263	P52756	RBM5_HUMAN	C	263;262	ENSP00000343054:R263C	ENSP00000343054:R263C	R	+	1	0	RBM5	50118078	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.711000	0.84669	2.937000	0.99478	0.650000	0.86243	CGC		0.473	RBM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345797.3	NM_005778		6	92	0	0	0	1	0	6	92					T	50143074	C	T	50143074	3	4	435	1	0	0	0	0	1	0	0	0	13143	652	23	2	821	2	RBM5	3	50143074	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	194852	50143074	147879356	1828	22753											
RBM5	10181	broad.mit.edu	37	chr3	50151655	50151655	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agctcatcccagaattggtgCgaaatggagatgaggagaat	14	8	13	6	1	1	4	1	1	0	3	2	7	2	4	1	3	2	1	1	3	3	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:50151655C>T	ENST00000347869.3	+	20	1985	c.1810C>T	c.(1810-1812)Cga>Tga	p.R604*	RP11-493K19.3_ENST00000437204.1_RNA	NM_005778.3	NP_005769.1	P52756	RBM5_HUMAN	RNA binding motif protein 5	604	Required for interaction with U2AF2.				apoptotic process (GO:0006915)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of cell proliferation (GO:0008285)|positive regulation of apoptotic process (GO:0043065)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|spliceosomal complex assembly (GO:0000245)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	DNA binding (GO:0003677)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(2)|cervix(2)|endometrium(3)|large_intestine(4)|lung(6)|prostate(2)	19				BRCA - Breast invasive adenocarcinoma(193;0.000121)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		AGAATTGGTGCGAAATGGAGA	0.468																																						ENST00000347869.3																			0				breast(2)|cervix(2)|endometrium(3)|large_intestine(4)|lung(6)|prostate(2)	19						c.(1810-1812)Cga>Tga		RNA binding motif protein 5							99	94	95					3																	50151655		2203	4300	6503	SO:0001587	stop_gained	10181				apoptosis|negative regulation of cell proliferation|positive regulation of apoptosis|regulation of alternative nuclear mRNA splicing, via spliceosome|spliceosome assembly	nucleoplasm|spliceosomal complex	DNA binding|mRNA binding|nucleotide binding|protein binding|zinc ion binding	g.chr3:50151655C>T	U23946	CCDS2810.1	3p21.3	2013-08-15			ENSG00000003756	ENSG00000003756		"G patch domain containing", "RNA binding motif (RRM) containing"	9902	protein-coding gene	gene with protein product		606884				10352938, 23935508	Standard	NM_005778		Approved	LUCA15, H37	uc003cyg.3	P52756	OTTHUMG00000156785	ENST00000347869.3:c.1810C>T	3.37:g.50151655C>T	ENSP00000343054:p.Arg604*						p.R604*	NM_005778.3	NP_005769.1	P52756	RBM5_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000121)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)	20	1985	+			604			Required for interaction with U2AF2.		B2RA45|B4DM16|B4DMF9|B4DZ63|Q93021|Q9BU14|Q9HDA6|Q9UKY8|Q9UL24	Nonsense_Mutation	SNP	ENST00000347869.3	37	c.1810C>T	CCDS2810.1	.	.	.	.	.	.	.	.	.	.	C	38	7.217394	0.98143	.	.	ENSG00000003756	ENST00000347869;ENST00000543047;ENST00000544851	.	.	.	5.49	4.54	0.55810	.	0.908914	0.09463	N	0.798746	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.11182	T	0.66	-6.6242	9.8686	0.41160	0.2537:0.7463:0.0:0.0	.	.	.	.	X	604;603;294	.	ENSP00000343054:R604X	R	+	1	2	RBM5	50126659	0.998000	0.40836	1.000000	0.80357	0.997000	0.91878	3.990000	0.56965	2.583000	0.87209	0.561000	0.74099	CGA		0.468	RBM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345797.3	NM_005778		20	27	0	0	0	1	0	20	27					T	50151655	C	T	50151655	4	4	435	1	0	0	0	0	0	1	0	0	13143	760	27	1	1884	1	RBM5	3	50151655	Nonsense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	8581	50151655	147870775	1829	22754											
SEMA3F	6405	broad.mit.edu	37	chr3	50211246	50211246	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agctgaaggccacaggcaccGcccacttcttcaacttcctg	9	8	8	16	1	2	1	1	1	1	0	3	1	3	1	4	2	2	2	4	2	2	3	rs147135053		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:50211246G>A	ENST00000002829.3	+	3	617	c.133G>A	c.(133-135)Gcc>Acc	p.A45T	SEMA3F_ENST00000413852.1_5'UTR|SEMA3F_ENST00000434342.1_Missense_Mutation_p.A45T|MIR566_ENST00000385187.1_RNA	NM_004186.3	NP_004177.3	Q13275	SEM3F_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3F	45	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|branchiomotor neuron axon guidance (GO:0021785)|facial nerve structural organization (GO:0021612)|negative regulation of axon extension involved in axon guidance (GO:0048843)|nerve development (GO:0021675)|neural crest cell migration (GO:0001755)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|semaphorin-plexin signaling pathway involved in neuron projection guidance (GO:1902285)|sympathetic ganglion development (GO:0061549)|sympathetic neuron projection extension (GO:0097490)|sympathetic neuron projection guidance (GO:0097491)|trigeminal nerve structural organization (GO:0021637)	extracellular space (GO:0005615)|membrane (GO:0016020)	chemorepellent activity (GO:0045499)|receptor activity (GO:0004872)			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(2)	17				BRCA - Breast invasive adenocarcinoma(193;0.00013)|KIRC - Kidney renal clear cell carcinoma(197;0.00599)|Kidney(197;0.00688)		CACAGGCACCGCCCACTTCTT	0.567																																						ENST00000002829.3																			0				central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(2)	17						c.(133-135)Gcc>Acc		sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3F		G	THR/ALA	0,4406		0,0,2203	135	106	116		133	4.4	0.9	3	dbSNP_134	116	1,8597	1.2+/-3.3	0,1,4298	no	missense	SEMA3F	NM_004186.3	58	0,1,6501	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging	45/786	50211246	1,13003	2203	4299	6502	SO:0001583	missense	6405				axon guidance	extracellular space|membrane	chemorepellent activity|receptor activity	g.chr3:50211246G>A	U33920	CCDS2811.1	3p21.3	2013-01-11			ENSG00000001617	ENSG00000001617		"Semaphorins", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	10728	protein-coding gene	gene with protein product	"sema IV"	601124				8786119, 8649831	Standard	NM_004186		Approved	SEMAK, Sema4	uc003cyj.3	Q13275	OTTHUMG00000156806	ENST00000002829.3:c.133G>A	3.37:g.50211246G>A	ENSP00000002829:p.Ala45Thr					SEMA3F_ENST00000434342.1_Missense_Mutation_p.A45T|SEMA3F_ENST00000413852.1_5'UTR	p.A45T	NM_004186.3	NP_004177.3	Q13275	SEM3F_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00013)|KIRC - Kidney renal clear cell carcinoma(197;0.00599)|Kidney(197;0.00688)	3	617	+			45			Sema.		C9JQ85|Q13274|Q13372|Q15704|Q6GTR4	Missense_Mutation	SNP	ENST00000002829.3	37	c.133G>A	CCDS2811.1	.	.	.	.	.	.	.	.	.	.	G	11.26	1.586187	0.28268	0.0	1.16E-4	ENSG00000001617	ENST00000414301;ENST00000450338;ENST00000002829;ENST00000426511;ENST00000434342;ENST00000420831	T;T;T;T;T;T	0.45668	1.98;1.98;1.98;1.98;1.98;0.89	5.25	4.36	0.52297	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (2);	0.000000	0.85682	D	0.000000	T	0.54208	0.1844	L	0.49256	1.55	0.49687	D	0.999816	D;D	0.89917	0.99;1.0	P;D	0.67548	0.588;0.952	T	0.48614	-0.9020	10	0.16420	T	0.52	.	15.1196	0.72432	0.0:0.0:0.857:0.143	.	45;45	C9JQ85;Q13275	.;SEM3F_HUMAN	T	45;45;45;45;45;3	ENSP00000392588:A45T;ENSP00000398399:A45T;ENSP00000002829:A45T;ENSP00000400549:A45T;ENSP00000409859:A45T;ENSP00000416356:A3T	ENSP00000002829:A45T	A	+	1	0	SEMA3F	50186250	1.000000	0.71417	0.864000	0.33941	0.000000	0.00434	5.451000	0.66632	1.333000	0.45449	-0.181000	0.13052	GCC		0.567	SEMA3F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345929.1	NM_004186		5	11	0	0	0	1	0	5	11					A	50211246	G	A	50211246	3	1	435	1	0	0	0	0	1	0	0	0	14029	1087	38	1	139	1	SEMA3F	3	50211246	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	59591	50211246	147811184	1830	22755											
SEMA3F	6405	broad.mit.edu	37	chr3	50222881	50222881	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cccggcccgttccagaccgcGggacagtgcagaaggtcatt	8	6	13	14	4	1	2	1	0	0	2	2	3	2	3	4	3	1	2	4	3	1	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:50222881G>A	ENST00000002829.3	+	14	1946	c.1462G>A	c.(1462-1464)Ggg>Agg	p.G488R	SEMA3F_ENST00000413852.1_Missense_Mutation_p.G389R|SEMA3F_ENST00000434342.1_Missense_Mutation_p.G457R	NM_004186.3	NP_004177.3	Q13275	SEM3F_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3F	488	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|branchiomotor neuron axon guidance (GO:0021785)|facial nerve structural organization (GO:0021612)|negative regulation of axon extension involved in axon guidance (GO:0048843)|nerve development (GO:0021675)|neural crest cell migration (GO:0001755)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|semaphorin-plexin signaling pathway involved in neuron projection guidance (GO:1902285)|sympathetic ganglion development (GO:0061549)|sympathetic neuron projection extension (GO:0097490)|sympathetic neuron projection guidance (GO:0097491)|trigeminal nerve structural organization (GO:0021637)	extracellular space (GO:0005615)|membrane (GO:0016020)	chemorepellent activity (GO:0045499)|receptor activity (GO:0004872)	p.G488W(1)		central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(2)	17				BRCA - Breast invasive adenocarcinoma(193;0.00013)|KIRC - Kidney renal clear cell carcinoma(197;0.00599)|Kidney(197;0.00688)		TCCAGACCGCGGGACAGTGCA	0.657																																						ENST00000002829.3																			1	Substitution - Missense(1)	p.G488W(1)	central_nervous_system(1)	central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(2)	17						c.(1462-1464)Ggg>Agg		sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3F							94	78	83					3																	50222881		2203	4300	6503	SO:0001583	missense	6405				axon guidance	extracellular space|membrane	chemorepellent activity|receptor activity	g.chr3:50222881G>A	U33920	CCDS2811.1	3p21.3	2013-01-11			ENSG00000001617	ENSG00000001617		"Semaphorins", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	10728	protein-coding gene	gene with protein product	"sema IV"	601124				8786119, 8649831	Standard	NM_004186		Approved	SEMAK, Sema4	uc003cyj.3	Q13275	OTTHUMG00000156806	ENST00000002829.3:c.1462G>A	3.37:g.50222881G>A	ENSP00000002829:p.Gly488Arg					SEMA3F_ENST00000434342.1_Missense_Mutation_p.G457R|SEMA3F_ENST00000413852.1_Missense_Mutation_p.G389R	p.G488R	NM_004186.3	NP_004177.3	Q13275	SEM3F_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00013)|KIRC - Kidney renal clear cell carcinoma(197;0.00599)|Kidney(197;0.00688)	14	1946	+			488			Sema.		C9JQ85|Q13274|Q13372|Q15704|Q6GTR4	Missense_Mutation	SNP	ENST00000002829.3	37	c.1462G>A	CCDS2811.1	.	.	.	.	.	.	.	.	.	.	G	26.1	4.701654	0.88924	.	.	ENSG00000001617	ENST00000413852;ENST00000002829;ENST00000434342	T;T;T	0.70986	-0.53;-0.53;-0.53	4.94	4.07	0.47477	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.149067	0.64402	D	0.000009	D	0.87099	0.6093	M	0.93550	3.43	0.58432	D	0.999999	D;P	0.89917	1.0;0.691	D;B	0.80764	0.994;0.284	D	0.90132	0.4207	10	0.87932	D	0	.	13.3443	0.60564	0.0776:0.0:0.9224:0.0	.	457;488	C9JQ85;Q13275	.;SEM3F_HUMAN	R	389;488;457	ENSP00000388931:G389R;ENSP00000002829:G488R;ENSP00000409859:G457R	ENSP00000002829:G488R	G	+	1	0	SEMA3F	50197885	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.651000	0.83577	1.312000	0.45043	0.448000	0.29417	GGG		0.657	SEMA3F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345929.1	NM_004186		4	10	0	0	0	1	0	4	10					A	50222881	G	A	50222881	3	1	435	1	0	0	0	0	1	0	0	0	14029	1116	39	2	1512	2	SEMA3F	3	50222881	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	11635	50222881	147799549	1831	22756											
C3orf45	132228	broad.mit.edu	37	chr3	50324108	50324108	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	atgtcccatccacccagcagGcacactgcgcccctatctaa	10	7	6	18	1	1	0	0	0	1	0	3	0	3	0	5	1	2	2	5	1	2	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:50324108G>A	ENST00000316436.3	+	3	263	c.176G>A	c.(175-177)gGc>gAc	p.G59D		NM_153215.1	NP_694947.1	Q8N112	LSME2_HUMAN	leucine-rich single-pass membrane protein 2	59						integral component of membrane (GO:0016021)											CACCCAGCAGGCACACTGCGC	0.637																																						ENST00000316436.3																			0											c.(175-177)gGc>gAc		leucine-rich single-pass membrane protein 2							74	69	71					3																	50324108		2203	4300	6503	SO:0001583	missense	132228							g.chr3:50324108G>A	AK095927	CCDS2814.1	3p21.31	2013-03-08	2013-03-08	2013-03-08	ENSG00000179564	ENSG00000179564			26781	protein-coding gene	gene with protein product			"chromosome 3 open reading frame 45"	C3orf45			Standard	NM_153215		Approved	FLJ38608	uc003cyz.3	Q8N112	OTTHUMG00000156938	ENST00000316436.3:c.176G>A	3.37:g.50324108G>A	ENSP00000315081:p.Gly59Asp						p.G59D	NM_153215.1	NP_694947.1					3	263	+									Missense_Mutation	SNP	ENST00000316436.3	37	c.176G>A	CCDS2814.1	.	.	.	.	.	.	.	.	.	.	G	18.64	3.667364	0.67814	.	.	ENSG00000179564	ENST00000316436	.	.	.	5.25	4.37	0.52481	.	0.000000	0.64402	D	0.000013	T	0.43809	0.1264	L	0.59436	1.845	0.29440	N	0.859196	B	0.31413	0.322	B	0.31812	0.136	T	0.50533	-0.8817	9	0.66056	D	0.02	-14.9452	9.8023	0.40773	0.0958:0.0:0.9042:0.0	.	59	Q8N112	CC045_HUMAN	D	59	.	ENSP00000315081:G59D	G	+	2	0	C3orf45	50299112	0.696000	0.27757	0.362000	0.25862	0.036000	0.12997	1.975000	0.40569	1.205000	0.43262	0.561000	0.74099	GGC		0.637	LSMEM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346671.1	NM_153215		6	16	0	0	0	1	0	6	16					A	50324108	G	A	50324108	3	1	435	1	0	0	0	0	1	0	0	0	2231	1203	42	3	186	3	C3orf45	3	50324108	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	101227	50324108	147698322	1832	22757											
HYAL2	8692	broad.mit.edu	37	chr3	50356445	50356445	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caccagctgcgcccagggccGcactctcgccaatggtagag	8	5	12	16	3	1	1	0	0	1	1	2	1	1	1	4	2	2	3	4	2	2	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:50356445G>A	ENST00000447092.1	-	2	3245	c.953C>T	c.(952-954)gCg>gTg	p.A318V	TUSC2_ENST00000462137.1_5'Flank|HYAL2_ENST00000395139.3_Missense_Mutation_p.A318V|HYAL2_ENST00000442581.1_Missense_Mutation_p.A318V|HYAL2_ENST00000357750.4_Missense_Mutation_p.A318V			Q12891	HYAL2_HUMAN	hyaluronoglucosaminidase 2	318					carbohydrate metabolic process (GO:0005975)|cartilage development (GO:0051216)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to interleukin-1 (GO:0071347)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cellular response to tumor necrosis factor (GO:0071356)|cellular response to UV-B (GO:0071493)|defense response to virus (GO:0051607)|fusion of virus membrane with host plasma membrane (GO:0019064)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|hematopoietic progenitor cell differentiation (GO:0002244)|hyaluronan catabolic process (GO:0030214)|hyaluronan metabolic process (GO:0030212)|kidney development (GO:0001822)|monocyte activation (GO:0042117)|multicellular organismal aging (GO:0010259)|multicellular organismal iron ion homeostasis (GO:0060586)|negative regulation of cell growth (GO:0030308)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein tyrosine kinase activity (GO:0061099)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-6 secretion (GO:2000778)|positive regulation of interleukin-8 secretion (GO:2000484)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of urine volume (GO:0035810)|renal water absorption (GO:0070295)|response to antibiotic (GO:0046677)|response to reactive oxygen species (GO:0000302)|response to virus (GO:0009615)|skeletal system morphogenesis (GO:0048705)|small molecule metabolic process (GO:0044281)|transformation of host cell by virus (GO:0019087)|viral entry into host cell (GO:0046718)	anchored component of external side of plasma membrane (GO:0031362)|anchored component of plasma membrane (GO:0046658)|apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|Golgi membrane (GO:0000139)|lysosome (GO:0005764)|membrane raft (GO:0045121)|microvillus (GO:0005902)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|hyaluronic acid binding (GO:0005540)|hyaluronoglucuronidase activity (GO:0033906)|hyalurononglucosaminidase activity (GO:0004415)|receptor signaling protein tyrosine kinase inhibitor activity (GO:0030294)|receptor tyrosine kinase binding (GO:0030971)|transforming growth factor beta binding (GO:0050431)|virus receptor activity (GO:0001618)			breast(1)|endometrium(2)|kidney(1)|ovary(1)|prostate(1)|skin(1)	7				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)		GCCCAGGGCCGCACTCTCGCC	0.597																																						ENST00000447092.1																			0				breast(1)|endometrium(2)|kidney(1)|ovary(1)|prostate(1)|skin(1)	7						c.(952-954)gCg>gTg		hyaluronoglucosaminidase 2	Hyaluronidase(DB00070)						85	81	82					3																	50356445		2203	4300	6503	SO:0001583	missense	8692					anchored to membrane|lysosome|plasma membrane	hyalurononglucosaminidase activity|receptor activity	g.chr3:50356445G>A	AJ000099	CCDS2818.1	3p21.3	2008-07-18			ENSG00000068001	ENSG00000068001			5321	protein-coding gene	gene with protein product	"lysosomal hyaluronidase", "PH-20 homolog", "hyaluronidase 2"	603551				9712871, 9790770	Standard	NM_003773		Approved	LuCa-2, LUCA2	uc003czv.3	Q12891	OTTHUMG00000156876	ENST00000447092.1:c.953C>T	3.37:g.50356445G>A	ENSP00000401853:p.Ala318Val					HYAL2_ENST00000395139.3_Missense_Mutation_p.A318V|HYAL2_ENST00000357750.4_Missense_Mutation_p.A318V|HYAL2_ENST00000442581.1_Missense_Mutation_p.A318V	p.A318V			Q12891	HYAL2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)	2	3245	-			318					B3KRZ2|O15177|Q9BW29	Missense_Mutation	SNP	ENST00000447092.1	37	c.953C>T	CCDS2818.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.945132	0.73672	.	.	ENSG00000068001	ENST00000447092;ENST00000357750;ENST00000395139;ENST00000442581	T;T;T;T	0.22336	1.96;1.96;1.96;1.96	5.8	4.93	0.64822	Aldolase-type TIM barrel (1);Glycoside hydrolase, superfamily (1);	0.103160	0.64402	D	0.000003	T	0.34077	0.0885	L	0.48260	1.515	0.43267	D	0.995212	D;D	0.71674	0.988;0.998	P;P	0.61874	0.62;0.895	T	0.02789	-1.1110	10	0.32370	T	0.25	-22.7256	12.418	0.55504	0.0809:0.0:0.9191:0.0	.	318;318	B3KRZ2;Q12891	.;HYAL2_HUMAN	V	318	ENSP00000401853:A318V;ENSP00000350387:A318V;ENSP00000378571:A318V;ENSP00000406657:A318V	ENSP00000350387:A318V	A	-	2	0	HYAL2	50331449	1.000000	0.71417	0.986000	0.45419	0.899000	0.52679	5.172000	0.65003	1.463000	0.47967	0.462000	0.41574	GCG		0.597	HYAL2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346391.1	NM_003773		15	35	0	0	0	1	0	15	35					A	50356445	G	A	50356445	3	1	435	1	0	0	0	0	1	0	0	0	7464	1087	38	1	476	1	HYAL2	3	50356445	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	32337	50356445	147665985	1833	22758											
HYAL2	8692	broad.mit.edu	37	chr3	50357818	50357818	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gtcccacgctaccacaaaggGccggccagtgaagatgggtg	10	5	14	12	2	0	2	0	1	0	1	1	2	1	2	4	3	1	1	4	3	3	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:50357818G>A	ENST00000447092.1	-	1	2395	c.103C>T	c.(103-105)Ccc>Tcc	p.P35S	TUSC2_ENST00000462137.1_5'UTR|HYAL2_ENST00000395139.3_Missense_Mutation_p.P35S|HYAL2_ENST00000442581.1_Missense_Mutation_p.P35S|HYAL2_ENST00000357750.4_Missense_Mutation_p.P35S			Q12891	HYAL2_HUMAN	hyaluronoglucosaminidase 2	35					carbohydrate metabolic process (GO:0005975)|cartilage development (GO:0051216)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to interleukin-1 (GO:0071347)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cellular response to tumor necrosis factor (GO:0071356)|cellular response to UV-B (GO:0071493)|defense response to virus (GO:0051607)|fusion of virus membrane with host plasma membrane (GO:0019064)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|hematopoietic progenitor cell differentiation (GO:0002244)|hyaluronan catabolic process (GO:0030214)|hyaluronan metabolic process (GO:0030212)|kidney development (GO:0001822)|monocyte activation (GO:0042117)|multicellular organismal aging (GO:0010259)|multicellular organismal iron ion homeostasis (GO:0060586)|negative regulation of cell growth (GO:0030308)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein tyrosine kinase activity (GO:0061099)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-6 secretion (GO:2000778)|positive regulation of interleukin-8 secretion (GO:2000484)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of urine volume (GO:0035810)|renal water absorption (GO:0070295)|response to antibiotic (GO:0046677)|response to reactive oxygen species (GO:0000302)|response to virus (GO:0009615)|skeletal system morphogenesis (GO:0048705)|small molecule metabolic process (GO:0044281)|transformation of host cell by virus (GO:0019087)|viral entry into host cell (GO:0046718)	anchored component of external side of plasma membrane (GO:0031362)|anchored component of plasma membrane (GO:0046658)|apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|Golgi membrane (GO:0000139)|lysosome (GO:0005764)|membrane raft (GO:0045121)|microvillus (GO:0005902)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|hyaluronic acid binding (GO:0005540)|hyaluronoglucuronidase activity (GO:0033906)|hyalurononglucosaminidase activity (GO:0004415)|receptor signaling protein tyrosine kinase inhibitor activity (GO:0030294)|receptor tyrosine kinase binding (GO:0030971)|transforming growth factor beta binding (GO:0050431)|virus receptor activity (GO:0001618)			breast(1)|endometrium(2)|kidney(1)|ovary(1)|prostate(1)|skin(1)	7				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)		ACCACAAAGGGCCGGCCAGTG	0.637																																						ENST00000447092.1																			0				breast(1)|endometrium(2)|kidney(1)|ovary(1)|prostate(1)|skin(1)	7						c.(103-105)Ccc>Tcc		hyaluronoglucosaminidase 2	Hyaluronidase(DB00070)						46	37	40					3																	50357818		2202	4300	6502	SO:0001583	missense	8692					anchored to membrane|lysosome|plasma membrane	hyalurononglucosaminidase activity|receptor activity	g.chr3:50357818G>A	AJ000099	CCDS2818.1	3p21.3	2008-07-18			ENSG00000068001	ENSG00000068001			5321	protein-coding gene	gene with protein product	"lysosomal hyaluronidase", "PH-20 homolog", "hyaluronidase 2"	603551				9712871, 9790770	Standard	NM_003773		Approved	LuCa-2, LUCA2	uc003czv.3	Q12891	OTTHUMG00000156876	ENST00000447092.1:c.103C>T	3.37:g.50357818G>A	ENSP00000401853:p.Pro35Ser					TUSC2_ENST00000462137.1_5'UTR|HYAL2_ENST00000395139.3_Missense_Mutation_p.P35S|HYAL2_ENST00000357750.4_Missense_Mutation_p.P35S|HYAL2_ENST00000442581.1_Missense_Mutation_p.P35S	p.P35S			Q12891	HYAL2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)	1	2395	-			35					B3KRZ2|O15177|Q9BW29	Missense_Mutation	SNP	ENST00000447092.1	37	c.103C>T	CCDS2818.1	.	.	.	.	.	.	.	.	.	.	G	31	5.061847	0.93846	.	.	ENSG00000068001	ENST00000447092;ENST00000357750;ENST00000395139;ENST00000442581;ENST00000458018;ENST00000424190;ENST00000426286;ENST00000428028;ENST00000415028	T;T;T;T;T;T;T;T;D	0.82984	0.58;0.58;0.58;0.58;0.58;0.58;0.58;0.58;-1.67	6.03	5.17	0.71159	Aldolase-type TIM barrel (1);Glycoside hydrolase, superfamily (1);	0.000000	0.85682	D	0.000000	D	0.90297	0.6965	M	0.75615	2.305	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.91078	0.4897	10	0.62326	D	0.03	-33.3104	14.0336	0.64632	0.0725:0.0:0.9275:0.0	.	35;35	B3KRZ2;Q12891	.;HYAL2_HUMAN	S	35	ENSP00000401853:P35S;ENSP00000350387:P35S;ENSP00000378571:P35S;ENSP00000406657:P35S;ENSP00000399677:P35S;ENSP00000398714:P35S;ENSP00000409642:P35S;ENSP00000414656:P35S;ENSP00000405855:P35S	ENSP00000350387:P35S	P	-	1	0	HYAL2	50332822	1.000000	0.71417	0.998000	0.56505	0.968000	0.65278	7.761000	0.85260	1.572000	0.49736	0.557000	0.71058	CCC		0.637	HYAL2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346391.1	NM_003773		13	12	0	0	0	1	0	13	12					A	50357818	G	A	50357818	3	1	435	1	0	0	0	0	1	0	0	0	7464	1203	42	3	1330	3	HYAL2	3	50357818	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	1373	50357818	147664612	1834	22759											
TMEM115	11070	broad.mit.edu	37	chr3	50395884	50395884	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggcgctggtagaagcgaagaTatacccaactggagagcagc	13	5	14	9	2	0	3	0	0	0	3	0	5	0	3	1	3	5	3	1	3	6	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:50395884T>C	ENST00000266025.3	-	1	1157	c.611A>G	c.(610-612)tAt>tGt	p.Y204C	XXcos-LUCA11.5_ENST00000606589.1_Intron	NM_007024.4	NP_008955.1	Q12893	TM115_HUMAN	transmembrane protein 115	204					negative regulation of cell proliferation (GO:0008285)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)				breast(2)|endometrium(1)|lung(1)|prostate(1)	5				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		GAAGCGAAGATATACCCAACT	0.632																																						ENST00000266025.3																			0				breast(2)|endometrium(1)|lung(1)|prostate(1)	5						c.(610-612)tAt>tGt		transmembrane protein 115							47	51	50					3																	50395884		2203	4300	6503	SO:0001583	missense	11070				negative regulation of cell proliferation	Golgi apparatus|integral to membrane|nucleus		g.chr3:50395884T>C	BC011948	CCDS2828.1	3p21.31	2008-11-04			ENSG00000126062	ENSG00000126062			30055	protein-coding gene	gene with protein product	"placental protein 6"	607069				11085536	Standard	NM_007024		Approved	PL6	uc003dan.1	Q12893	OTTHUMG00000044212	ENST00000266025.3:c.611A>G	3.37:g.50395884T>C	ENSP00000266025:p.Tyr204Cys					XXcos-LUCA11.5_ENST00000606589.1_Intron	p.Y204C	NM_007024.4	NP_008955.1	Q12893	TM115_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)	1	1157	-			204					A2IDB7|O14568|Q6IAY4|Q9UIX3	Missense_Mutation	SNP	ENST00000266025.3	37	c.611A>G	CCDS2828.1	.	.	.	.	.	.	.	.	.	.	T	25.5	4.639690	0.87760	.	.	ENSG00000126062	ENST00000266025	T	0.12774	2.65	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	T	0.44008	0.1273	M	0.86573	2.825	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.50676	-0.8800	10	0.87932	D	0	-16.8177	15.0972	0.72244	0.0:0.0:0.0:1.0	.	204	Q12893	TM115_HUMAN	C	204	ENSP00000266025:Y204C	ENSP00000266025:Y204C	Y	-	2	0	TMEM115	50370888	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.784000	0.85713	2.200000	0.70718	0.460000	0.39030	TAT		0.632	TMEM115-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102784.3	NM_007024		9	19	0	0	0	1	0	9	19					C	50395884	T	C	50395884	3	2	435	1	0	0	0	0	1	0	0	0	16026	1406	49	4	452	4	TMEM115	3	50395884	Missense_Mutation	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	38066	50395884	147626546	1835	22760											
CACNA2D2	9254	broad.mit.edu	37	chr3	50402359	50402359	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agatgtgcgggcctctccggTatcgcggtctctgcactagc	5	10	13	13	4	2	1	0	0	2	1	5	1	2	1	2	3	3	2	2	3	2	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:50402359T>C	ENST00000479441.1	-	38	3271	c.3272A>G	c.(3271-3273)tAc>tGc	p.Y1091C	XXcos-LUCA11.4_ENST00000606665.1_RNA|XXcos-LUCA11.4_ENST00000606259.1_RNA|XXcos-LUCA11.4_ENST00000607583.1_RNA|CACNA2D2_ENST00000424201.2_Missense_Mutation_p.Y1084C|CACNA2D2_ENST00000435965.1_Missense_Mutation_p.Y1094C|CACNA2D2_ENST00000266039.3_Missense_Mutation_p.Y1086C|CACNA2D2_ENST00000360963.3_Missense_Mutation_p.Y1017C|CACNA2D2_ENST00000429770.1_Missense_Mutation_p.Y1085C|CACNA2D2_ENST00000395083.1_Missense_Mutation_p.Y1087C|CACNA2D2_ENST00000423994.2_Missense_Mutation_p.Y1094C|XXcos-LUCA11.4_ENST00000607088.1_RNA|XXcos-LUCA11.4_ENST00000607362.1_RNA|XXcos-LUCA11.4_ENST00000607121.1_RNA|XXcos-LUCA11.5_ENST00000606589.1_Intron			Q9NY47	CA2D2_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 2	1091					energy reserve metabolic process (GO:0006112)|muscle fiber development (GO:0048747)|neuromuscular junction development (GO:0007528)|positive regulation of organ growth (GO:0046622)|regulation of insulin secretion (GO:0050796)|regulation of multicellular organism growth (GO:0040014)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			breast(3)|cervix(1)|endometrium(4)|large_intestine(4)|lung(8)|ovary(2)|prostate(4)|skin(4)|urinary_tract(1)	31				BRCA - Breast invasive adenocarcinoma(193;0.000365)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)	Amiodarone(DB01118)|Bepridil(DB01244)|Felodipine(DB01023)|Gabapentin(DB00996)|Isradipine(DB00270)|Nitrendipine(DB01054)|Spironolactone(DB00421)	GCCTCTCCGGTATCGCGGTCT	0.716																																						ENST00000435965.1																			0				breast(3)|cervix(1)|endometrium(4)|large_intestine(4)|lung(8)|ovary(2)|prostate(4)|skin(4)|urinary_tract(1)	31						c.(3280-3282)tAc>tGc		calcium channel, voltage-dependent, alpha 2/delta subunit 2	Gabapentin(DB00996)						46	47	47					3																	50402359		2203	4300	6503	SO:0001583	missense	9254				energy reserve metabolic process|regulation of insulin secretion	integral to membrane|plasma membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity	g.chr3:50402359T>C	AF040709	CCDS33763.1, CCDS54588.1, CCDS63647.1	3p21.3	2004-02-27			ENSG00000007402	ENSG00000007402		"Calcium channel subunits"	1400	protein-coding gene	gene with protein product	"gene 26"	607082					Standard	XM_005265581		Approved	KIAA0558	uc003daq.3	Q9NY47	OTTHUMG00000156887	ENST00000479441.1:c.3272A>G	3.37:g.50402359T>C	ENSP00000418081:p.Tyr1091Cys					CACNA2D2_ENST00000360963.3_Missense_Mutation_p.Y1017C|CACNA2D2_ENST00000395083.1_Missense_Mutation_p.Y1087C|XXcos-LUCA11.5_ENST00000606589.1_Intron|CACNA2D2_ENST00000423994.2_Missense_Mutation_p.Y1094C|CACNA2D2_ENST00000479441.1_Missense_Mutation_p.Y1091C|CACNA2D2_ENST00000429770.1_Missense_Mutation_p.Y1085C|CACNA2D2_ENST00000266039.3_Missense_Mutation_p.Y1086C|CACNA2D2_ENST00000424201.2_Missense_Mutation_p.Y1084C	p.Y1094C			Q9NY47	CA2D2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000365)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)	38	3454	-			1091					A7MD15|Q9NY48|Q9UEW0|Q9Y268	Missense_Mutation	SNP	ENST00000479441.1	37	c.3281A>G	CCDS54588.1	.	.	.	.	.	.	.	.	.	.	T	25.2	4.613781	0.87359	.	.	ENSG00000007402	ENST00000423994;ENST00000429770;ENST00000266039;ENST00000360963;ENST00000435965;ENST00000395083;ENST00000424201;ENST00000479441	T;T;T;T;T;T;T;T	0.68765	-0.35;-0.35;-0.35;-0.35;-0.35;-0.35;-0.35;-0.35	4.42	4.42	0.53409	.	0.153091	0.45126	D	0.000385	T	0.78419	0.4280	M	0.64997	1.995	0.58432	D	0.999995	D;D;D	0.89917	0.974;1.0;1.0	P;D;D	0.85130	0.78;0.997;0.99	T	0.79645	-0.1717	10	0.52906	T	0.07	-15.3021	13.3623	0.60663	0.0:0.0:0.0:1.0	.	1091;1084;1094	Q9NY47;Q9NY47-2;C9JGM2	CA2D2_HUMAN;.;.	C	1094;1085;1086;1017;1094;1087;1084;1091	ENSP00000407393:Y1094C;ENSP00000404631:Y1085C;ENSP00000266039:Y1086C;ENSP00000354228:Y1017C;ENSP00000390526:Y1094C;ENSP00000378519:Y1087C;ENSP00000390329:Y1084C;ENSP00000418081:Y1091C	ENSP00000266039:Y1086C	Y	-	2	0	CACNA2D2	50377363	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.092000	0.76930	1.624000	0.50355	0.334000	0.21626	TAC		0.716	CACNA2D2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000346457.1	NM_006030		9	18	0	0	0	1	0	9	18					C	50402359	T	C	50402359	3	2	435	1	0	0	0	0	1	0	0	0	2549	1638	57	4	188	4	CACNA2D2	3	50402359	Missense_Mutation	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	6475	50402359	147620071	1836	22761											
CACNA2D2	9254	broad.mit.edu	37	chr3	50404460	50404460	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acctgctggcctcagtgtgcGcctgcctaggctgagctcca	5	9	12	15	1	1	1	1	1	0	0	2	1	2	1	5	2	4	3	5	2	1	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:50404460G>A	ENST00000479441.1	-	29	2502	c.2503C>T	c.(2503-2505)Cgc>Tgc	p.R835C	XXcos-LUCA11.4_ENST00000606665.1_RNA|XXcos-LUCA11.4_ENST00000606259.1_RNA|XXcos-LUCA11.4_ENST00000607583.1_RNA|CACNA2D2_ENST00000424201.2_Missense_Mutation_p.R828C|CACNA2D2_ENST00000435965.1_Missense_Mutation_p.R835C|CACNA2D2_ENST00000266039.3_Missense_Mutation_p.R828C|CACNA2D2_ENST00000360963.3_Missense_Mutation_p.R759C|CACNA2D2_ENST00000429770.1_Missense_Mutation_p.R828C|CACNA2D2_ENST00000395083.1_Missense_Mutation_p.R828C|CACNA2D2_ENST00000423994.2_Missense_Mutation_p.R835C|XXcos-LUCA11.4_ENST00000607088.1_RNA|XXcos-LUCA11.4_ENST00000607362.1_RNA|XXcos-LUCA11.4_ENST00000607121.1_RNA|XXcos-LUCA11.5_ENST00000606589.1_Intron			Q9NY47	CA2D2_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 2	835					energy reserve metabolic process (GO:0006112)|muscle fiber development (GO:0048747)|neuromuscular junction development (GO:0007528)|positive regulation of organ growth (GO:0046622)|regulation of insulin secretion (GO:0050796)|regulation of multicellular organism growth (GO:0040014)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			breast(3)|cervix(1)|endometrium(4)|large_intestine(4)|lung(8)|ovary(2)|prostate(4)|skin(4)|urinary_tract(1)	31				BRCA - Breast invasive adenocarcinoma(193;0.000365)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)	Amiodarone(DB01118)|Bepridil(DB01244)|Felodipine(DB01023)|Gabapentin(DB00996)|Isradipine(DB00270)|Nitrendipine(DB01054)|Spironolactone(DB00421)	CTCAGTGTGCGCCTGCCTAGG	0.607																																						ENST00000435965.1																			0				breast(3)|cervix(1)|endometrium(4)|large_intestine(4)|lung(8)|ovary(2)|prostate(4)|skin(4)|urinary_tract(1)	31						c.(2503-2505)Cgc>Tgc		calcium channel, voltage-dependent, alpha 2/delta subunit 2	Gabapentin(DB00996)						66	64	64					3																	50404460		2203	4300	6503	SO:0001583	missense	9254				energy reserve metabolic process|regulation of insulin secretion	integral to membrane|plasma membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity	g.chr3:50404460G>A	AF040709	CCDS33763.1, CCDS54588.1, CCDS63647.1	3p21.3	2004-02-27			ENSG00000007402	ENSG00000007402		"Calcium channel subunits"	1400	protein-coding gene	gene with protein product	"gene 26"	607082					Standard	XM_005265581		Approved	KIAA0558	uc003daq.3	Q9NY47	OTTHUMG00000156887	ENST00000479441.1:c.2503C>T	3.37:g.50404460G>A	ENSP00000418081:p.Arg835Cys					CACNA2D2_ENST00000360963.3_Missense_Mutation_p.R759C|XXcos-LUCA11.4_ENST00000607121.1_RNA|CACNA2D2_ENST00000395083.1_Missense_Mutation_p.R828C|XXcos-LUCA11.4_ENST00000607583.1_RNA|XXcos-LUCA11.5_ENST00000606589.1_Intron|CACNA2D2_ENST00000423994.2_Missense_Mutation_p.R835C|XXcos-LUCA11.4_ENST00000606665.1_RNA|XXcos-LUCA11.4_ENST00000607088.1_RNA|CACNA2D2_ENST00000479441.1_Missense_Mutation_p.R835C|CACNA2D2_ENST00000429770.1_Missense_Mutation_p.R828C|CACNA2D2_ENST00000266039.3_Missense_Mutation_p.R828C|CACNA2D2_ENST00000424201.2_Missense_Mutation_p.R828C|XXcos-LUCA11.4_ENST00000606259.1_RNA	p.R835C			Q9NY47	CA2D2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000365)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)	29	2676	-			835					A7MD15|Q9NY48|Q9UEW0|Q9Y268	Missense_Mutation	SNP	ENST00000479441.1	37	c.2503C>T	CCDS54588.1	.	.	.	.	.	.	.	.	.	.	G	19.83	3.899302	0.72754	.	.	ENSG00000007402	ENST00000423994;ENST00000429770;ENST00000266039;ENST00000360963;ENST00000435965;ENST00000395083;ENST00000424201;ENST00000479441	T;T;T;T;T;T;T;T	0.73575	-0.76;-0.76;-0.76;-0.76;-0.76;-0.76;-0.76;-0.76	5.58	4.63	0.57726	.	0.056238	0.64402	D	0.000003	T	0.75162	0.3812	L	0.36672	1.1	0.50813	D	0.99989	D;D	0.64830	0.978;0.994	P;P	0.55667	0.608;0.781	T	0.77787	-0.2457	10	0.87932	D	0	-14.1541	13.0938	0.59180	0.0:0.0:0.7317:0.2683	.	835;828	Q9NY47;Q9NY47-2	CA2D2_HUMAN;.	C	835;828;828;759;835;828;828;835	ENSP00000407393:R835C;ENSP00000404631:R828C;ENSP00000266039:R828C;ENSP00000354228:R759C;ENSP00000390526:R835C;ENSP00000378519:R828C;ENSP00000390329:R828C;ENSP00000418081:R835C	ENSP00000266039:R828C	R	-	1	0	CACNA2D2	50379464	1.000000	0.71417	0.946000	0.38457	0.950000	0.60333	5.093000	0.64517	2.642000	0.89623	0.655000	0.94253	CGC		0.607	CACNA2D2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000346457.1	NM_006030		11	19	0	0	0	1	0	11	19					A	50404460	G	A	50404460	3	1	435	1	0	0	0	0	1	0	0	0	2549	1087	38	1	999	1	CACNA2D2	3	50404460	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	2101	50404460	147617970	1837	22762											
C3orf18	51161	broad.mit.edu	37	chr3	50598395	50598395	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcagcctgtacagaggcggCgtcccgcccatgctccagca	8	5	12	16	3	0	1	0	0	0	1	2	1	2	1	4	2	5	4	4	2	1	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:50598395C>T	ENST00000357203.3	-	5	900	c.361G>A	c.(361-363)Gcc>Acc	p.A121T	C3orf18_ENST00000449241.1_Missense_Mutation_p.A121T|C3orf18_ENST00000422619.1_Missense_Mutation_p.A69T|C3orf18_ENST00000486175.1_5'UTR|C3orf18_ENST00000441239.1_Missense_Mutation_p.A101T|C3orf18_ENST00000426034.1_Missense_Mutation_p.A121T	NM_016210.4	NP_057294.2	Q9UK00	CC018_HUMAN	chromosome 3 open reading frame 18	121						integral component of membrane (GO:0016021)				lung(1)|pancreas(1)|skin(1)	3				BRCA - Breast invasive adenocarcinoma(193;0.000278)|KIRC - Kidney renal clear cell carcinoma(197;0.0175)|Kidney(197;0.0207)		ACAGAGGCGGCGTCCCGCCCA	0.632																																						ENST00000357203.3																			0				lung(1)|pancreas(1)|skin(1)	3						c.(361-363)Gcc>Acc		chromosome 3 open reading frame 18							91	80	84					3																	50598395		2203	4300	6503	SO:0001583	missense	51161					integral to membrane		g.chr3:50598395C>T	AF188706	CCDS2829.1, CCDS54589.1	3p21.3	2006-01-11			ENSG00000088543	ENSG00000088543			24837	protein-coding gene	gene with protein product						12477932	Standard	NM_016210		Approved	G20	uc010hlp.3	Q9UK00	OTTHUMG00000156854	ENST00000357203.3:c.361G>A	3.37:g.50598395C>T	ENSP00000349732:p.Ala121Thr					C3orf18_ENST00000486175.1_5'UTR|C3orf18_ENST00000441239.1_Missense_Mutation_p.A101T|C3orf18_ENST00000422619.1_Missense_Mutation_p.A69T|C3orf18_ENST00000449241.1_Missense_Mutation_p.A121T|C3orf18_ENST00000426034.1_Missense_Mutation_p.A121T	p.A121T	NM_016210.4	NP_057294.2	Q9UK00	CC018_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000278)|KIRC - Kidney renal clear cell carcinoma(197;0.0175)|Kidney(197;0.0207)	5	900	-			121					C9JNP0	Missense_Mutation	SNP	ENST00000357203.3	37	c.361G>A	CCDS2829.1	.	.	.	.	.	.	.	.	.	.	C	13.85	2.360971	0.41801	.	.	ENSG00000088543	ENST00000426034;ENST00000357203;ENST00000449241;ENST00000441239;ENST00000422619	T;T;T;T;T	0.44482	2.7;2.7;2.7;0.92;0.92	4.8	1.81	0.25067	.	0.499688	0.21974	N	0.066404	T	0.16300	0.0392	N	0.11427	0.14	0.32298	N	0.565388	B;B	0.32203	0.319;0.36	B;B	0.22386	0.027;0.039	T	0.21793	-1.0235	10	0.15499	T	0.54	-53.0632	5.7541	0.18162	0.1528:0.679:0.0:0.1682	.	101;121	C9JNP0;Q9UK00	.;CC018_HUMAN	T	121;121;121;101;69	ENSP00000387606:A121T;ENSP00000349732:A121T;ENSP00000404913:A121T;ENSP00000414124:A101T;ENSP00000399129:A69T	ENSP00000349732:A121T	A	-	1	0	C3orf18	50573399	0.953000	0.32496	0.056000	0.19401	0.112000	0.19704	1.991000	0.40727	0.457000	0.26962	-0.254000	0.11334	GCC		0.632	C3orf18-014	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346260.2	NM_016210		24	28	0	0	0	1	0	24	28					T	50598395	C	T	50598395	3	4	435	1	0	0	0	0	1	0	0	0	2211	768	27	1	135	1	C3orf18	3	50598395	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	193935	50598395	147424035	1838	22763											
HEMK1	51409	broad.mit.edu	37	chr3	50609161	50609161	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttcagagcctgaggccggcActttggacccagcccttgac	7	9	11	14	1	1	3	1	2	0	1	1	4	1	4	4	3	2	1	4	3	0	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:50609161A>G	ENST00000232854.4	+	3	801	c.249A>G	c.(247-249)gcA>gcG	p.A83A	HEMK1_ENST00000455834.1_Silent_p.A83A|C3orf18_ENST00000449241.1_5'Flank|HEMK1_ENST00000434410.1_Silent_p.A83A	NM_016173.3	NP_057257.1	Q9Y5R4	HEMK1_HUMAN	HemK methyltransferase family member 1	83					DNA methylation (GO:0006306)	mitochondrion (GO:0005739)	DNA binding (GO:0003677)|N-methyltransferase activity (GO:0008170)|protein methyltransferase activity (GO:0008276)			lung(3)	3				BRCA - Breast invasive adenocarcinoma(193;0.000283)|KIRC - Kidney renal clear cell carcinoma(197;0.0179)|Kidney(197;0.0212)		TGAGGCCGGCACTTTGGACCC	0.567											OREG0015589	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000232854.4																			0				lung(3)	3						c.(247-249)gcA>gcG		HemK methyltransferase family member 1							124	133	130					3																	50609161		2203	4300	6503	SO:0001819	synonymous_variant	51409				DNA methylation		DNA binding|N-methyltransferase activity|protein methyltransferase activity	g.chr3:50609161A>G	AF172244	CCDS2830.1	3p21	2008-02-05			ENSG00000114735	ENSG00000114735			24923	protein-coding gene	gene with protein product						10690633	Standard	XM_005265218		Approved	MTQ1	uc003dav.3	Q9Y5R4	OTTHUMG00000156849	ENST00000232854.4:c.249A>G	3.37:g.50609161A>G			OREG0015589	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	971	HEMK1_ENST00000434410.1_Silent_p.A83A|HEMK1_ENST00000455834.1_Silent_p.A83A	p.A83A	NM_016173.3	NP_057257.1	Q9Y5R4	HEMK1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000283)|KIRC - Kidney renal clear cell carcinoma(197;0.0179)|Kidney(197;0.0212)	3	801	+			83						Silent	SNP	ENST00000232854.4	37	c.249A>G	CCDS2830.1																																																																																				0.567	HEMK1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346231.1	NM_016173		40	68	0	0	0	1	0	40	68					G	50609161	A	G	50609161	2	3	435	1	0	0	0	0	0	0	0	1	7051	146	6	4		4	HEMK1	3	50609161	Silent	SNP	A	TCGA-XK-AAIW-01A-11D-A41K-08	10766	50609161	147413269	1839	22764											
RBM15B	29890	broad.mit.edu	37	chr3	51431205	51431205	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggggagccccaacggctatgCggtcctcttagccacccagg	7	6	13	15	2	1	0	0	0	1	0	2	1	2	1	5	5	4	1	5	5	3	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:51431205C>T	ENST00000323686.4	+	1	2475	c.2375C>T	c.(2374-2376)gCg>gTg	p.A792V		NM_013286.4	NP_037418.3	Q8NDT2	RB15B_HUMAN	RNA binding motif protein 15B	792	Interaction with Epstein-Barr virus BMLF1.|SPOC. {ECO:0000255|PROSITE- ProRule:PRU00249}.				mRNA processing (GO:0006397)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(4)|large_intestine(5)|lung(3)	12				BRCA - Breast invasive adenocarcinoma(193;0.000224)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		AACGGCTATGCGGTCCTCTTA	0.637																																						ENST00000323686.4																			0				endometrium(4)|large_intestine(5)|lung(3)	12						c.(2374-2376)gCg>gTg		RNA binding motif protein 15B							44	48	47					3																	51431205		2203	4300	6503	SO:0001583	missense	29890				interspecies interaction between organisms|mRNA processing|regulation of alternative nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|RNA splicing|transcription, DNA-dependent	nucleoplasm	nucleotide binding|protein binding|RNA binding	g.chr3:51431205C>T	AL831838	CCDS33764.1	3p21.1	2013-02-12			ENSG00000179837	ENSG00000259956		"RNA binding motif (RRM) containing"	24303	protein-coding gene	gene with protein product		612602				16129689	Standard	NM_013286		Approved	HUMAGCGB, OTT3	uc003dbd.3	Q8NDT2	OTTHUMG00000156896	ENST00000323686.4:c.2375C>T	3.37:g.51431205C>T	ENSP00000313890:p.Ala792Val						p.A792V	NM_013286.4	NP_037418.3	Q8NDT2	RB15B_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000224)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	1	2475	+			792			Interaction with Epstein-Barr virus BMLF1.|SPOC.		A4QPG7|Q6QE19|Q9BV96	Missense_Mutation	SNP	ENST00000323686.4	37	c.2375C>T	CCDS33764.1	.	.	.	.	.	.	.	.	.	.	C	18.50	3.637670	0.67130	.	.	ENSG00000179837	ENST00000323686;ENST00000540284;ENST00000541145;ENST00000536338	T	0.20200	2.09	5.82	4.84	0.62591	Spen Paralogue and Orthologue SPOC, C-terminal-like (2);Spen paralogue/orthologue C-terminal, metazoa (1);Spen paralogue and orthologue SPOC, C-terminal (1);	.	.	.	.	T	0.22475	0.0542	L	0.54323	1.7	0.48341	D	0.999636	B	0.24043	0.096	B	0.21151	0.033	T	0.02398	-1.1165	9	0.54805	T	0.06	-11.2713	13.383	0.60780	0.0:0.8973:0.0:0.1027	.	792	Q8NDT2	RB15B_HUMAN	V	792;113;465;211	ENSP00000313890:A792V	ENSP00000313890:A792V	A	+	2	0	RBM15B	51406245	0.999000	0.42202	0.455000	0.27031	0.874000	0.50279	3.982000	0.56909	2.756000	0.94617	0.561000	0.74099	GCG		0.637	RBM15B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346489.1	NM_013286		13	21	0	0	0	1	0	13	21					T	51431205	C	T	51431205	3	4	435	1	0	0	0	0	1	0	0	0	13117	768	27	1	2377	1	RBM15B	3	51431205	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	822044	51431205	146591225	1840	22765											
VPRBP	9730	broad.mit.edu	37	chr3	51456180	51456180	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gagttgtgacagttatagctGgcctcctcctgtccactaaa	9	12	9	11	0	0	1	0	1	0	0	3	2	3	1	4	1	1	3	4	1	4	4	rs556883362	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:51456180G>A	ENST00000335891.5	-	8	2049	c.2040C>T	c.(2038-2040)gcC>gcT	p.A680A				Q9Y4B6	VPRBP_HUMAN	Vpr (HIV-1) binding protein	1129					B cell differentiation (GO:0030183)|cell competition in a multicellular organism (GO:0035212)|histone H2A-T120 phosphorylation (GO:1990245)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|protein ubiquitination (GO:0016567)|transcription, DNA-templated (GO:0006351)|V(D)J recombination (GO:0033151)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|histone kinase activity (H2A-T120 specific) (GO:1990244)			breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	41				BRCA - Breast invasive adenocarcinoma(193;0.000272)|Kidney(197;0.000729)|KIRC - Kidney renal clear cell carcinoma(197;0.000875)		AGTTATAGCTGGCCTCCTCCT	0.507													G|||	2	0.000399361	0	0	5008	,	,		18165	0		0	False		,,,				2504	0.002					ENST00000335891.5																			0				breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	41						c.(2038-2040)gcC>gcT		Vpr (HIV-1) binding protein							129	131	130					3																	51456180		2042	4199	6241	SO:0001819	synonymous_variant	9730				interspecies interaction between organisms	cytoplasm|nucleus	protein binding	g.chr3:51456180G>A	AB018343	CCDS74943.1, CCDS74944.1	3p21.2	2011-06-17			ENSG00000145041	ENSG00000145041		"DDB1 and CUL4 associated factors"	30911	protein-coding gene	gene with protein product	"DDB1 and CUL4 associated factor 1"					8195203, 11223251	Standard	NM_014703		Approved	KIAA0800, MGC102804, DCAF1	uc003dbe.2	Q9Y4B6	OTTHUMG00000156895	ENST00000335891.5:c.2040C>T	3.37:g.51456180G>A							p.A680A			Q9Y4B6	VPRBP_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000272)|Kidney(197;0.000729)|KIRC - Kidney renal clear cell carcinoma(197;0.000875)	8	2049	-			1129					Q2YD74|Q8TBD9|Q9HCA1|Q9UG37	Silent	SNP	ENST00000335891.5	37	c.2040C>T																																																																																					0.507	VPRBP-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_014703		38	57	0	0	0	1	0	38	57					A	51456180	G	A	51456180	2	1	435	1	0	0	0	0	0	0	0	1	17182	1335	47	3		3	VPRBP	3	51456180	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	24975	51456180	146566250	1841	22766											
GRM2	2912	broad.mit.edu	37	chr3	51747269	51747269	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cccggctctgtgacgcgatgCggccagttaacgggcgccgc	5	6	15	15	7	1	1	0	1	1	0	1	2	1	1	3	3	2	2	3	3	1	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:51747269C>T	ENST00000395052.3	+	3	1465	c.1231C>T	c.(1231-1233)Cgg>Tgg	p.R411W	GRM2_ENST00000475478.1_Intron|GRM2_ENST00000442933.2_Missense_Mutation_p.R411W	NM_000839.3	NP_000830.2	Q14416	GRM2_HUMAN	glutamate receptor, metabotropic 2	411					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|glutamate secretion (GO:0014047)|negative regulation of adenylate cyclase activity (GO:0007194)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)	axon (GO:0030424)|cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	calcium channel regulator activity (GO:0005246)|G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group II metabotropic glutamate receptor activity (GO:0001641)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(11)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		TGACGCGATGCGGCCAGTTAA	0.577																																						ENST00000395052.3																			0				breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(11)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33						c.(1231-1233)Cgg>Tgg		glutamate receptor, metabotropic 2	Acamprosate(DB00659)|Nicotine(DB00184)						36	31	32					3																	51747269		2202	4297	6499	SO:0001583	missense	2912				synaptic transmission	integral to plasma membrane		g.chr3:51747269C>T	L35318	CCDS2834.1	3p21.2	2013-09-20			ENSG00000164082	ENSG00000164082		"GPCR / Class C : Glutamate receptors, metabotropic", "Glutamate receptors"	4594	protein-coding gene	gene with protein product		604099				7620613	Standard	NM_000839		Approved	GPRC1B, mGlu2, MGLUR2	uc010hlv.3	Q14416	OTTHUMG00000156902	ENST00000395052.3:c.1231C>T	3.37:g.51747269C>T	ENSP00000378492:p.Arg411Trp					GRM2_ENST00000475478.1_Intron|GRM2_ENST00000442933.2_Missense_Mutation_p.R411W	p.R411W	NM_000839.3	NP_000830.2	Q14416	GRM2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	3	1465	+			411					B0M0K7|Q14CU5|Q52MC6|Q9H3N6	Missense_Mutation	SNP	ENST00000395052.3	37	c.1231C>T	CCDS2834.1	.	.	.	.	.	.	.	.	.	.	C	18.02	3.530426	0.64860	.	.	ENSG00000164082	ENST00000395052;ENST00000442933	D;D	0.83335	-1.71;-1.71	4.95	2.85	0.33270	Extracellular ligand-binding receptor (1);	0.202957	0.41500	D	0.000879	D	0.86331	0.5907	L	0.49350	1.555	0.43846	D	0.996436	D	0.69078	0.997	P	0.61003	0.882	D	0.86347	0.1708	10	0.87932	D	0	.	13.7247	0.62750	0.676:0.324:0.0:0.0	.	411	Q14416	GRM2_HUMAN	W	411	ENSP00000378492:R411W;ENSP00000408906:R411W	ENSP00000296479:R411W	R	+	1	2	GRM2	51722309	1.000000	0.71417	0.995000	0.50966	0.858000	0.48976	2.063000	0.41423	0.395000	0.25257	0.555000	0.69702	CGG		0.577	GRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346542.1			5	14	0	0	0	1	0	5	14					T	51747269	C	T	51747269	3	4	435	1	0	0	0	0	1	0	0	0	6797	759	27	1	1237	1	GRM2	3	51747269	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	291089	51747269	146275161	1842	22767											
GRM2	2912	broad.mit.edu	37	chr3	51749519	51749519	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acctgtcaccatcgcctgccTcggtgccctggccaccctct	4	9	8	20	2	2	0	1	0	1	0	4	0	2	0	7	2	2	0	7	2	0	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:51749519T>C	ENST00000395052.3	+	4	1964	c.1730T>C	c.(1729-1731)cTc>cCc	p.L577P	GRM2_ENST00000475478.1_3'UTR|GRM2_ENST00000442933.2_Intron	NM_000839.3	NP_000830.2	Q14416	GRM2_HUMAN	glutamate receptor, metabotropic 2	577					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|glutamate secretion (GO:0014047)|negative regulation of adenylate cyclase activity (GO:0007194)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)	axon (GO:0030424)|cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	calcium channel regulator activity (GO:0005246)|G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group II metabotropic glutamate receptor activity (GO:0001641)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(11)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		ATCGCCTGCCTCGGTGCCCTG	0.632																																						ENST00000395052.3																			0				breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(11)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33						c.(1729-1731)cTc>cCc		glutamate receptor, metabotropic 2	Acamprosate(DB00659)|Nicotine(DB00184)						67	63	64					3																	51749519		2203	4300	6503	SO:0001583	missense	2912				synaptic transmission	integral to plasma membrane		g.chr3:51749519T>C	L35318	CCDS2834.1	3p21.2	2013-09-20			ENSG00000164082	ENSG00000164082		"GPCR / Class C : Glutamate receptors, metabotropic", "Glutamate receptors"	4594	protein-coding gene	gene with protein product		604099				7620613	Standard	NM_000839		Approved	GPRC1B, mGlu2, MGLUR2	uc010hlv.3	Q14416	OTTHUMG00000156902	ENST00000395052.3:c.1730T>C	3.37:g.51749519T>C	ENSP00000378492:p.Leu577Pro					GRM2_ENST00000475478.1_3'UTR|GRM2_ENST00000442933.2_Intron	p.L577P	NM_000839.3	NP_000830.2	Q14416	GRM2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	4	1964	+			577					B0M0K7|Q14CU5|Q52MC6|Q9H3N6	Missense_Mutation	SNP	ENST00000395052.3	37	c.1730T>C	CCDS2834.1	.	.	.	.	.	.	.	.	.	.	T	18.57	3.652459	0.67472	.	.	ENSG00000164082	ENST00000395052	D	0.90788	-2.73	5.3	4.12	0.48240	GPCR, family 3, C-terminal (2);	0.000000	0.64402	D	0.000001	D	0.95297	0.8474	M	0.89095	3.005	0.80722	D	1	D	0.63880	0.993	D	0.68192	0.956	D	0.95248	0.8357	10	0.87932	D	0	.	11.7756	0.51983	0.1319:0.0:0.0:0.8681	.	577	Q14416	GRM2_HUMAN	P	577	ENSP00000378492:L577P	ENSP00000378492:L577P	L	+	2	0	GRM2	51724559	1.000000	0.71417	0.866000	0.34008	0.982000	0.71751	8.029000	0.88807	0.940000	0.37473	0.459000	0.35465	CTC		0.632	GRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346542.1			26	32	0	0	0	1	0	26	32					C	51749519	T	C	51749519	3	2	435	1	0	0	0	0	1	0	0	0	6797	1551	54	4	1740	4	GRM2	3	51749519	Missense_Mutation	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	2250	51749519	146272911	1843	22768											
GPR62	118442	broad.mit.edu	37	chr3	51990266	51990266	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcggcatcttcgtggtggcgCgtcgcgctgccctgaggccc	2	8	16	15	6	1	1	0	1	1	0	3	1	1	1	2	4	1	2	2	4	0	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:51990266C>T	ENST00000322241.4	+	1	937	c.598C>T	c.(598-600)Cgt>Tgt	p.R200C		NM_080865.3	NP_543141.3	Q9BZJ7	GPR62_HUMAN	G protein-coupled receptor 62	200						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	G-protein coupled receptor activity (GO:0004930)			endometrium(1)|kidney(1)|large_intestine(1)|ovary(1)|upper_aerodigestive_tract(1)	5				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000534)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		CGTGGTGGCGCGTCGCGCTGC	0.756																																						ENST00000322241.4																			0				endometrium(1)|kidney(1)|large_intestine(1)|ovary(1)|upper_aerodigestive_tract(1)	5						c.(598-600)Cgt>Tgt		G protein-coupled receptor 62							5	6	6					3																	51990266		1206	2708	3914	SO:0001583	missense	118442					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr3:51990266C>T	AF317653	CCDS2838.1	3p21.1	2012-08-21			ENSG00000180929	ENSG00000180929		"GPCR / Class A : Orphans"	13301	protein-coding gene	gene with protein product		606917				11165367	Standard	NM_080865		Approved		uc003dca.4	Q9BZJ7	OTTHUMG00000157367	ENST00000322241.4:c.598C>T	3.37:g.51990266C>T	ENSP00000319250:p.Arg200Cys						p.R200C	NM_080865.3	NP_543141.3	Q9BZJ7	GPR62_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000534)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	1	937	+			200					F1DAM4|Q5KU27	Missense_Mutation	SNP	ENST00000322241.4	37	c.598C>T	CCDS2838.1	.	.	.	.	.	.	.	.	.	.	C	18.72	3.684540	0.68157	.	.	ENSG00000180929	ENST00000322241	T	0.42900	0.96	4.58	3.6	0.41247	GPCR, rhodopsin-like superfamily (1);	0.336995	0.15200	U	0.275046	T	0.56514	0.1990	L	0.54323	1.7	0.39089	D	0.961057	D	0.89917	1.0	D	0.70227	0.968	T	0.60657	-0.7220	10	0.87932	D	0	-13.3578	10.7681	0.46305	0.2332:0.7668:0.0:0.0	.	200	Q9BZJ7	GPR62_HUMAN	C	200	ENSP00000319250:R200C	ENSP00000319250:R200C	R	+	1	0	GPR62	51965306	1.000000	0.71417	0.995000	0.50966	0.699000	0.40488	3.450000	0.52957	2.063000	0.61619	0.455000	0.32223	CGT		0.756	GPR62-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348611.1			4	3	0	0	0	1	0	4	3					T	51990266	C	T	51990266	3	4	435	1	0	0	0	0	1	0	0	0	6703	768	27	1	600	1	GPR62	3	51990266	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	240747	51990266	146032164	1844	22769											
ABHD14A	25864	broad.mit.edu	37	chr3	52011973	52011973	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcctactgtatgtggggctGccaggcccccctgagcagac	6	8	12	15	0	0	2	0	1	0	1	1	2	1	2	5	3	3	3	5	3	2	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:52011973G>A	ENST00000273596.3	+	2	224	c.156G>A	c.(154-156)ctG>ctA	p.L52L	ACY1_ENST00000458031.2_Missense_Mutation_p.C4Y|ABHD14B_ENST00000483233.1_Intron|ABHD14A_ENST00000491470.1_Silent_p.L52L|ABHD14A-ACY1_ENST00000463937.1_Silent_p.L52L	NM_015407.4	NP_056222.2	Q9BUJ0	ABHEA_HUMAN	abhydrolase domain containing 14A	52						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	hydrolase activity (GO:0016787)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|stomach(1)	6				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000541)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		ATGTGGGGCTGCCAGGCCCCC	0.627																																						ENST00000458031.2																			0				breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	11						c.(10-12)tGc>tAc		aminoacylase 1	L-Aspartic Acid(DB00128)						65	70	68					3																	52011973		2203	4300	6503	SO:0001819	synonymous_variant	95				cellular amino acid metabolic process|proteolysis	cytosol	aminoacylase activity|metal ion binding|metallopeptidase activity	g.chr3:52011973G>A	AY358201	CCDS2843.1	3p21.1	2011-02-14			ENSG00000248487	ENSG00000248487		"Abhydrolase domain containing"	24538	protein-coding gene	gene with protein product							Standard	NM_015407		Approved	DKFZP564O243, DORZ1	uc003dco.3	Q9BUJ0	OTTHUMG00000157818	ENST00000273596.3:c.156G>A	3.37:g.52011973G>A						ABHD14B_ENST00000483233.1_Intron|ABHD14A_ENST00000273596.3_Silent_p.L52L|ABHD14A-ACY1_ENST00000463937.1_Silent_p.L52L|ABHD14A_ENST00000491470.1_Silent_p.L52L	p.C4Y			Q03154	ACY1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000534)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	2	242	+			0					Q6UXU8|Q9Y3T7	Missense_Mutation	SNP	ENST00000273596.3	37	c.11G>A	CCDS2843.1	.	.	.	.	.	.	.	.	.	.	G	9.477	1.097177	0.20552	.	.	ENSG00000114786	ENST00000458031	T	0.76448	-1.02	5.93	-0.336	0.12658	.	.	.	.	.	T	0.64811	0.2632	.	.	.	0.35016	D	0.757333	B	0.06786	0.001	B	0.08055	0.003	T	0.59316	-0.7477	8	0.87932	D	0	-6.972	5.385	0.16213	0.4138:0.136:0.4503:0.0	.	4	B4DNW0	.	Y	4	ENSP00000390557:C4Y	ENSP00000390557:C4Y	C	+	2	0	RP11-155D18.11	51987013	0.976000	0.34144	0.006000	0.13384	0.209000	0.24338	-0.107000	0.10873	-0.103000	0.12175	-0.140000	0.14226	TGC		0.627	ABHD14A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349689.1	NM_015407		30	31	0	0	0	1	0	30	31					A	52011973	G	A	52011973	2	1	435	1	0	0	0	0	0	0	0	1	79	1306	46	3		3	ABHD14A	3	52011973	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	21707	52011973	146010457	1845	22770											
RPL29	6159	broad.mit.edu	37	chr3	52028115	52028115	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gttgtgcttcttggcaaagcGcatgttcctcaggaacttgg	7	13	12	9	1	2	0	1	0	1	0	3	1	3	1	1	3	3	5	1	3	2	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:52028115G>A	ENST00000466397.1	-	4	270	c.130C>T	c.(130-132)Cgc>Tgc	p.R44C	RPL29_ENST00000479017.1_Missense_Mutation_p.R44C|RPL29_ENST00000294189.6_Missense_Mutation_p.R44C|RPL29_ENST00000475248.1_Missense_Mutation_p.R44C|RPL29_ENST00000495383.1_Missense_Mutation_p.R44C			P47914	RL29_HUMAN	ribosomal protein L29	44					cellular protein metabolic process (GO:0044267)|embryo implantation (GO:0007566)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|membrane (GO:0016020)	heparin binding (GO:0008201)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			lung(1)	1				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		TTGGCAAAGCGCATGTTCCTC	0.552																																						ENST00000466397.1																			0				lung(1)	1						c.(130-132)Cgc>Tgc		ribosomal protein L29							67	78	74					3																	52028115		2203	4299	6502	SO:0001583	missense	6159				embryo implantation|endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	heparin binding|protein binding|RNA binding|structural constituent of ribosome	g.chr3:52028115G>A	U10248	CCDS2845.1	3p21.3-p21.2	2013-03-11			ENSG00000162244	ENSG00000162244		"L ribosomal proteins"	10331	protein-coding gene	gene with protein product	"60S ribosomal protein L29", "heparin/heparan sulfate-interacting protein", "HP/HS-interacting protein", "heparin/heparan sulfate-binding protein", "cell surface heparin-binding protein HIP"	601832	"ribosomal protein L29 pseudogene 10"	RPL29P10		8597591	Standard	NM_000992		Approved	HIP, HUMRPL29, L29	uc003dcs.3	P47914	OTTHUMG00000155262	ENST00000466397.1:c.130C>T	3.37:g.52028115G>A	ENSP00000418868:p.Arg44Cys					RPL29_ENST00000475248.1_Missense_Mutation_p.R44C|RPL29_ENST00000479017.1_Missense_Mutation_p.R44C|RPL29_ENST00000495383.1_Missense_Mutation_p.R44C|RPL29_ENST00000294189.6_Missense_Mutation_p.R44C	p.R44C			P47914	RL29_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	4	270	-			44					A8K0H3|B2R4M8|Q6IPY3	Missense_Mutation	SNP	ENST00000466397.1	37	c.130C>T	CCDS2845.1	.	.	.	.	.	.	.	.	.	.	G	15.23	2.771684	0.49680	.	.	ENSG00000162244	ENST00000466397;ENST00000294189;ENST00000479017;ENST00000495383;ENST00000475248;ENST00000492277	T;T;T;T;T;T	0.41065	1.01;1.01;1.01;1.01;1.01;1.01	4.77	4.77	0.60923	.	0.000000	0.85682	D	0.000000	T	0.31009	0.0783	N	0.21097	0.63	0.80722	D	1	B	0.06786	0.001	B	0.04013	0.001	T	0.05451	-1.0884	10	0.36615	T	0.2	.	15.6653	0.77225	0.0:0.0:1.0:0.0	.	44	P47914	RL29_HUMAN	C	44	ENSP00000418868:R44C;ENSP00000294189:R44C;ENSP00000418153:R44C;ENSP00000420673:R44C;ENSP00000417048:R44C;ENSP00000418346:R44C	ENSP00000294189:R44C	R	-	1	0	RPL29	52003155	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.762000	0.68809	2.626000	0.88956	0.655000	0.94253	CGC		0.552	RPL29-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349680.2	NM_000992		6	22	0	0	0	1	0	6	22					A	52028115	G	A	52028115	3	1	435	1	0	0	0	0	1	0	0	0	13578	1087	38	1	353	1	RPL29	3	52028115	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	16142	52028115	145994315	1846	22771											
ALAS1	211	broad.mit.edu	37	chr3	52239947	52239947	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggacttagagcgggagctggCagacctccatgggaaagatg	11	6	16	8	1	0	3	0	0	0	3	1	6	1	6	2	4	2	2	2	4	2	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:52239947C>T	ENST00000394965.2	+	7	1253	c.893C>T	c.(892-894)gCa>gTa	p.A298V	ALAS1_ENST00000484952.1_Missense_Mutation_p.A298V|ALAS1_ENST00000310271.2_Missense_Mutation_p.A298V|ALAS1_ENST00000469224.1_Missense_Mutation_p.A298V	NM_000688.5	NP_000679.1	P13196	HEM1_HUMAN	aminolevulinate, delta-, synthase 1	298					cellular lipid metabolic process (GO:0044255)|heme biosynthetic process (GO:0006783)|porphyrin-containing compound metabolic process (GO:0006778)|protoporphyrinogen IX biosynthetic process (GO:0006782)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	5-aminolevulinate synthase activity (GO:0003870)|pyridoxal phosphate binding (GO:0030170)			endometrium(3)|kidney(3)|large_intestine(7)|liver(2)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	23				BRCA - Breast invasive adenocarcinoma(193;5.13e-05)|Kidney(197;0.000583)|KIRC - Kidney renal clear cell carcinoma(197;0.000751)	Glycine(DB00145)	CGGGAGCTGGCAGACCTCCAT	0.483																																						ENST00000394965.2																			0				endometrium(3)|kidney(3)|large_intestine(7)|liver(2)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	23						c.(892-894)gCa>gTa		aminolevulinate, delta-, synthase 1	Glycine(DB00145)|Pyridoxal Phosphate(DB00114)						150	148	149					3																	52239947		2203	4300	6503	SO:0001583	missense	211				heme biosynthetic process	mitochondrial matrix	5-aminolevulinate synthase activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups	g.chr3:52239947C>T	X56351	CCDS2847.1	3p21	2004-11-18			ENSG00000023330	ENSG00000023330	2.3.1.37		396	protein-coding gene	gene with protein product		125290		ALAS3, ALAS			Standard	NM_000688		Approved		uc003dcz.2	P13196	OTTHUMG00000158108	ENST00000394965.2:c.893C>T	3.37:g.52239947C>T	ENSP00000378416:p.Ala298Val					ALAS1_ENST00000310271.2_Missense_Mutation_p.A298V|ALAS1_ENST00000484952.1_Missense_Mutation_p.A298V|ALAS1_ENST00000469224.1_Missense_Mutation_p.A298V	p.A298V	NM_000688.5	NP_000679.1	P13196	HEM1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;5.13e-05)|Kidney(197;0.000583)|KIRC - Kidney renal clear cell carcinoma(197;0.000751)	7	1253	+			298						Missense_Mutation	SNP	ENST00000394965.2	37	c.893C>T	CCDS2847.1	.	.	.	.	.	.	.	.	.	.	C	35	5.571928	0.96553	.	.	ENSG00000023330	ENST00000469224;ENST00000394965;ENST00000310271;ENST00000484952	D;D;D;D	0.94184	-3.37;-3.37;-3.37;-3.37	5.83	5.83	0.93111	Aminotransferase, class I/classII (1);Tetrapyrrole biosynthesis, 5-aminolevulinic acid synthase (1);Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.000000	0.85682	D	0.000000	D	0.98346	0.9451	H	0.98407	4.225	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	D	0.99113	1.0847	10	0.87932	D	0	-24.1634	20.1005	0.97872	0.0:1.0:0.0:0.0	.	315;298	B4DVA0;P13196	.;HEM1_HUMAN	V	298	ENSP00000417719:A298V;ENSP00000378416:A298V;ENSP00000309259:A298V;ENSP00000418779:A298V	ENSP00000309259:A298V	A	+	2	0	ALAS1	52214987	1.000000	0.71417	0.998000	0.56505	0.907000	0.53573	7.760000	0.85248	2.758000	0.94735	0.467000	0.42956	GCA		0.483	ALAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350207.1			35	54	0	0	0	1	0	35	54					T	52239947	C	T	52239947	3	4	435	1	0	0	0	0	1	0	0	0	484	710	25	3	911	3	ALAS1	3	52239947	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	211832	52239947	145782483	1847	22772											
ALAS1	211	broad.mit.edu	37	chr3	52239990	52239990	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcactcttgttttcctcgtgCtttgtggccaatgactcaac	6	15	8	12	1	2	1	1	1	1	0	4	1	3	1	2	1	2	3	2	1	2	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:52239990C>A	ENST00000394965.2	+	7	1296	c.936C>A	c.(934-936)tgC>tgA	p.C312*	ALAS1_ENST00000484952.1_Nonsense_Mutation_p.C312*|ALAS1_ENST00000310271.2_Nonsense_Mutation_p.C312*|ALAS1_ENST00000469224.1_Nonsense_Mutation_p.C312*	NM_000688.5	NP_000679.1	P13196	HEM1_HUMAN	aminolevulinate, delta-, synthase 1	312					cellular lipid metabolic process (GO:0044255)|heme biosynthetic process (GO:0006783)|porphyrin-containing compound metabolic process (GO:0006778)|protoporphyrinogen IX biosynthetic process (GO:0006782)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	5-aminolevulinate synthase activity (GO:0003870)|pyridoxal phosphate binding (GO:0030170)			endometrium(3)|kidney(3)|large_intestine(7)|liver(2)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	23				BRCA - Breast invasive adenocarcinoma(193;5.13e-05)|Kidney(197;0.000583)|KIRC - Kidney renal clear cell carcinoma(197;0.000751)	Glycine(DB00145)	TTTCCTCGTGCTTTGTGGCCA	0.473																																						ENST00000394965.2																			0				endometrium(3)|kidney(3)|large_intestine(7)|liver(2)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	23						c.(934-936)tgC>tgA		aminolevulinate, delta-, synthase 1	Glycine(DB00145)|Pyridoxal Phosphate(DB00114)						162	154	157					3																	52239990		2203	4300	6503	SO:0001587	stop_gained	211				heme biosynthetic process	mitochondrial matrix	5-aminolevulinate synthase activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups	g.chr3:52239990C>A	X56351	CCDS2847.1	3p21	2004-11-18			ENSG00000023330	ENSG00000023330	2.3.1.37		396	protein-coding gene	gene with protein product		125290		ALAS3, ALAS			Standard	NM_000688		Approved		uc003dcz.2	P13196	OTTHUMG00000158108	ENST00000394965.2:c.936C>A	3.37:g.52239990C>A	ENSP00000378416:p.Cys312*					ALAS1_ENST00000310271.2_Nonsense_Mutation_p.C312*|ALAS1_ENST00000484952.1_Nonsense_Mutation_p.C312*|ALAS1_ENST00000469224.1_Nonsense_Mutation_p.C312*	p.C312*	NM_000688.5	NP_000679.1	P13196	HEM1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;5.13e-05)|Kidney(197;0.000583)|KIRC - Kidney renal clear cell carcinoma(197;0.000751)	7	1296	+			312						Nonsense_Mutation	SNP	ENST00000394965.2	37	c.936C>A	CCDS2847.1	.	.	.	.	.	.	.	.	.	.	C	40	8.099881	0.98654	.	.	ENSG00000023330	ENST00000469224;ENST00000394965;ENST00000310271;ENST00000484952	.	.	.	5.83	3.85	0.44370	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-22.5022	12.564	0.56300	0.0:0.8995:0.0:0.1005	.	.	.	.	X	312	.	ENSP00000309259:C312X	C	+	3	2	ALAS1	52215030	0.998000	0.40836	0.998000	0.56505	0.990000	0.78478	0.625000	0.24477	0.571000	0.29365	0.467000	0.42956	TGC		0.473	ALAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350207.1			34	45	1	0	6.05902e-23	1	6.74593e-23	34	45					A	52239990	C	A	52239990	4	1	435	1	0	0	0	0	0	1	0	0	484	805	28	5	954	5	ALAS1	3	52239990	Nonsense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	43	52239990	145782440	1848	22773											
WDR82	80335	broad.mit.edu	37	chr3	52293788	52293788	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	caatcagacgaatgaagctgCcgttggtggaaatgaggatg	13	8	14	6	2	1	3	1	2	0	1	1	6	1	5	1	3	2	2	1	3	4	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:52293788C>T	ENST00000296490.3	-	6	925	c.644G>A	c.(643-645)gGc>gAc	p.G215D		NM_025222.3	NP_079498.2	Q6UXN9	WDR82_HUMAN	WD repeat domain 82	215					histone H3-K4 methylation (GO:0051568)	chromatin (GO:0000785)|histone methyltransferase complex (GO:0035097)|PTW/PP1 phosphatase complex (GO:0072357)|Set1C/COMPASS complex (GO:0048188)	chromatin binding (GO:0003682)								BRCA - Breast invasive adenocarcinoma(193;2.67e-05)|Kidney(197;0.00198)|KIRC - Kidney renal clear cell carcinoma(197;0.00223)|OV - Ovarian serous cystadenocarcinoma(275;0.246)		AATGAAGCTGCCGTTGGTGGA	0.463																																						ENST00000296490.3																			0											c.(643-645)gGc>gAc		WD repeat domain 82							226	216	220					3																	52293788		2001	4177	6178	SO:0001583	missense	80335				histone H3-K4 methylation	chromatin|PTW/PP1 phosphatase complex|Set1C/COMPASS complex	protein binding	g.chr3:52293788C>T	AF132207	CCDS2851.2	3p21.2	2013-01-10	2007-07-04	2007-07-04	ENSG00000164091	ENSG00000164091		"WD repeat domain containing"	28826	protein-coding gene	gene with protein product		611059	"transmembrane protein 113"	TMEM113		17355966	Standard	NM_025222		Approved	PRO2730, MST107, MSTP107, PRO34047, WDR82A, SWD2	uc003ddl.2	Q6UXN9	OTTHUMG00000150391	ENST00000296490.3:c.644G>A	3.37:g.52293788C>T	ENSP00000296490:p.Gly215Asp						p.G215D	NM_025222.3	NP_079498.2	Q6UXN9	WDR82_HUMAN		BRCA - Breast invasive adenocarcinoma(193;2.67e-05)|Kidney(197;0.00198)|KIRC - Kidney renal clear cell carcinoma(197;0.00223)|OV - Ovarian serous cystadenocarcinoma(275;0.246)	6	925	-			215					A8K5R5|Q8TEB2	Missense_Mutation	SNP	ENST00000296490.3	37	c.644G>A	CCDS2851.2	.	.	.	.	.	.	.	.	.	.	C	23.3	4.397398	0.83120	.	.	ENSG00000164091	ENST00000296490	T	0.06142	3.34	5.99	5.99	0.97316	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.09774	0.0240	L	0.56396	1.775	0.80722	D	1	P	0.45078	0.85	B	0.42163	0.378	T	0.12630	-1.0540	10	0.02654	T	1	-30.366	20.4574	0.99148	0.0:1.0:0.0:0.0	.	215	Q6UXN9	WDR82_HUMAN	D	215	ENSP00000296490:G215D	ENSP00000296490:G215D	G	-	2	0	WDR82	52268828	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.616000	0.83018	2.843000	0.97960	0.591000	0.81541	GGC		0.463	WDR82-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317919.1	NM_025222		80	124	0	0	0	1	0	80	124					T	52293788	C	T	52293788	3	4	435	1	0	0	0	0	1	0	0	0	17328	739	26	3	313	3	WDR82	3	52293788	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	53798	52293788	145728642	1849	22774											
GLYCTK	132158	broad.mit.edu	37	chr3	52325023	52325023	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgtccaggtattcgagggtgCggaggacaacctcccggacc	8	7	14	12	3	0	0	0	0	0	0	3	4	2	3	4	5	2	1	4	5	2	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:52325023C>T	ENST00000436784.2	+	3	485	c.425C>T	c.(424-426)gCg>gTg	p.A142V	GLYCTK_ENST00000473032.1_Missense_Mutation_p.A142V|GLYCTK_ENST00000471180.1_Missense_Mutation_p.A15V|GLYCTK_ENST00000477382.1_Missense_Mutation_p.A142V|GLYCTK_ENST00000354773.4_Missense_Mutation_p.A142V|GLYCTK_ENST00000461183.1_Missense_Mutation_p.A58V|GLYCTK_ENST00000305690.8_Missense_Mutation_p.A142V|GLYCTK-AS1_ENST00000493616.1_RNA			Q8IVS8	GLCTK_HUMAN	glycerate kinase	142					protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|glycerate kinase activity (GO:0008887)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|urinary_tract(1)	9				BRCA - Breast invasive adenocarcinoma(193;3.56e-05)|Kidney(197;0.00171)|KIRC - Kidney renal clear cell carcinoma(197;0.00194)|OV - Ovarian serous cystadenocarcinoma(275;0.235)		TTCGAGGGTGCGGAGGACAAC	0.627																																						ENST00000354773.4																			0				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|urinary_tract(1)	9						c.(424-426)gCg>gTg		glycerate kinase							108	88	95					3																	52325023		2203	4300	6503	SO:0001583	missense	132158				protein phosphorylation	Golgi apparatus|mitochondrion	ATP binding|glycerate kinase activity|protein binding	g.chr3:52325023C>T		CCDS2852.1, CCDS46841.1	3p21.1	2008-01-22			ENSG00000168237	ENSG00000168237	2.7.1.31		24247	protein-coding gene	gene with protein product		610516				16753811	Standard	NM_145262		Approved	HBEBP4, HBEBP2	uc003ddo.3	Q8IVS8	OTTHUMG00000158380	ENST00000436784.2:c.425C>T	3.37:g.52325023C>T	ENSP00000389175:p.Ala142Val					GLYCTK_ENST00000471180.1_Missense_Mutation_p.A15V|GLYCTK_ENST00000436784.2_Missense_Mutation_p.A142V|GLYCTK_ENST00000305690.8_Missense_Mutation_p.A142V|GLYCTK_ENST00000461183.1_Missense_Mutation_p.A58V|GLYCTK-AS1_ENST00000493616.1_RNA|GLYCTK_ENST00000477382.1_Missense_Mutation_p.A142V|GLYCTK_ENST00000473032.1_Missense_Mutation_p.A142V	p.A142V	NM_001144951.1	NP_001138423.1	Q8IVS8	GLCTK_HUMAN		BRCA - Breast invasive adenocarcinoma(193;3.56e-05)|Kidney(197;0.00171)|KIRC - Kidney renal clear cell carcinoma(197;0.00194)|OV - Ovarian serous cystadenocarcinoma(275;0.235)	3	521	+			142					Q0P630|Q2EZ43|Q6Y2K6|Q7Z6G5|Q86YR8|Q8TED2|Q8WTY2	Missense_Mutation	SNP	ENST00000436784.2	37	c.425C>T	CCDS2852.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.947626	0.73787	.	.	ENSG00000168237	ENST00000461183;ENST00000473032;ENST00000305690;ENST00000354773;ENST00000471180;ENST00000436784;ENST00000477382	T;T;T;T;T;T;T	0.67698	-0.28;-0.28;-0.28;-0.28;-0.28;-0.28;-0.28	5.38	4.48	0.54585	.	0.051472	0.85682	N	0.000000	D	0.84529	0.5492	M	0.91612	3.225	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.993;0.998	D	0.87610	0.2503	10	0.87932	D	0	-10.868	13.2457	0.60022	0.0:0.9197:0.0:0.0803	.	142;142;142	Q8IVS8-2;Q8IVS8-4;Q8IVS8	.;.;GLCTK_HUMAN	V	58;142;142;142;15;142;142	ENSP00000417264:A58V;ENSP00000418951:A142V;ENSP00000301965:A142V;ENSP00000346825:A142V;ENSP00000417526:A15V;ENSP00000389175:A142V;ENSP00000419008:A142V	ENSP00000301965:A142V	A	+	2	0	GLYCTK	52300063	1.000000	0.71417	0.152000	0.22495	0.436000	0.31835	7.279000	0.78599	1.187000	0.43000	0.655000	0.94253	GCG		0.627	GLYCTK-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350835.1	NM_145262		8	15	0	0	0	1	0	8	15					T	52325023	C	T	52325023	3	4	435	1	0	0	0	0	1	0	0	0	6482	768	27	1	431	1	GLYCTK	3	52325023	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	31235	52325023	145697407	1850	22775											
DNAH1	25981	broad.mit.edu	37	chr3	52380666	52380666	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	catgctgcaggacacactgcGcttcctggtgcaggactcac	8	8	11	14	1	1	0	1	0	0	0	2	2	2	2	1	3	4	4	1	3	0	1	rs371402883		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:52380666G>A	ENST00000420323.2	+	11	2096	c.1835G>A	c.(1834-1836)cGc>cAc	p.R612H		NM_015512.4	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	612	Stem. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|response to mechanical stimulus (GO:0009612)	axonemal dynein complex (GO:0005858)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		GACACACTGCGCTTCCTGGTG	0.567																																						ENST00000420323.2																			0				cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62						c.(1834-1836)cGc>cAc		dynein, axonemal, heavy chain 1		G	HIS/ARG	1,4351		0,1,2175	85	89	88		1835	4.4	1	3		88	0,8558		0,0,4279	no	missense	DNAH1	NM_015512.4	29	0,1,6454	AA,AG,GG		0.0,0.023,0.0077	probably-damaging	612/4266	52380666	1,12909	2176	4279	6455	SO:0001583	missense	25981				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr3:52380666G>A	U61738	CCDS46842.1	3p21-p14	2008-02-05	2006-09-04		ENSG00000114841	ENSG00000114841		"Axonemal dyneins"	2940	protein-coding gene	gene with protein product		603332	"dynein, axonemal, heavy polypeptide 1"			8812413, 9256245	Standard	NM_015512		Approved	XLHSRF-1, DNAHC1, HDHC7, HL-11, HL11	uc011bef.2	Q9P2D7	OTTHUMG00000158378	ENST00000420323.2:c.1835G>A	3.37:g.52380666G>A	ENSP00000401514:p.Arg612His						p.R612H	NM_015512.4	NP_056327.4	Q9P2D7	DYH1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	11	2096	+			612			Stem (By similarity).		B0I1R6|O00436|O15435|O95491|Q6ZU48|Q86YK7|Q8TEJ4|Q92863|Q9H8E6|Q9UFW6|Q9Y4Z7	Missense_Mutation	SNP	ENST00000420323.2	37	c.1835G>A	CCDS46842.1	.	.	.	.	.	.	.	.	.	.	G	23.6	4.439608	0.83885	2.3E-4	0.0	ENSG00000114841	ENST00000420323	T	0.27256	1.68	4.44	4.44	0.53790	.	0.000000	0.44483	D	0.000444	T	0.56093	0.1962	M	0.86953	2.85	0.49130	D	0.999754	D;D	0.89917	1.0;1.0	D;D	0.83275	0.968;0.996	T	0.61252	-0.7100	10	0.33141	T	0.24	.	17.0712	0.86574	0.0:0.0:1.0:0.0	.	612;612	C9JXH6;Q9P2D7-3	.;.	H	612	ENSP00000401514:R612H	ENSP00000401514:R612H	R	+	2	0	DNAH1	52355706	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	6.961000	0.76042	2.035000	0.60131	0.557000	0.71058	CGC		0.567	DNAH1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350816.1	NM_015512		17	23	0	0	0	1	0	17	23					A	52380666	G	A	52380666	3	1	435	1	0	0	0	0	1	0	0	0	4597	1087	38	1	1873	1	DNAH1	3	52380666	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	55643	52380666	145641764	1851	22776											
DNAH1	25981	broad.mit.edu	37	chr3	52391665	52391665	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccgacctgagaatgctggaCagcctgcgggactgcaacaa	11	6	12	12	2	0	1	0	1	0	1	1	5	1	3	3	2	5	2	3	2	3	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:52391665C>T	ENST00000420323.2	+	23	4155	c.3894C>T	c.(3892-3894)gaC>gaT	p.D1298D		NM_015512.4	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	1298	Stem. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|response to mechanical stimulus (GO:0009612)	axonemal dynein complex (GO:0005858)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		GAATGCTGGACAGCCTGCGGG	0.597																																						ENST00000420323.2																			0				cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62						c.(3892-3894)gaC>gaT		dynein, axonemal, heavy chain 1							32	35	34					3																	52391665		2047	4189	6236	SO:0001819	synonymous_variant	25981				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr3:52391665C>T	U61738	CCDS46842.1	3p21-p14	2008-02-05	2006-09-04		ENSG00000114841	ENSG00000114841		"Axonemal dyneins"	2940	protein-coding gene	gene with protein product		603332	"dynein, axonemal, heavy polypeptide 1"			8812413, 9256245	Standard	NM_015512		Approved	XLHSRF-1, DNAHC1, HDHC7, HL-11, HL11	uc011bef.2	Q9P2D7	OTTHUMG00000158378	ENST00000420323.2:c.3894C>T	3.37:g.52391665C>T							p.D1298D	NM_015512.4	NP_056327.4	Q9P2D7	DYH1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	23	4155	+			1298			Stem (By similarity).		B0I1R6|O00436|O15435|O95491|Q6ZU48|Q86YK7|Q8TEJ4|Q92863|Q9H8E6|Q9UFW6|Q9Y4Z7	Silent	SNP	ENST00000420323.2	37	c.3894C>T	CCDS46842.1																																																																																				0.597	DNAH1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350816.1	NM_015512		4	8	0	0	0	1	0	4	8					T	52391665	C	T	52391665	2	4	435	1	0	0	0	0	0	0	0	1	4597	477	17	3		3	DNAH1	3	52391665	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	10999	52391665	145630765	1852	22777											
DNAH1	25981	broad.mit.edu	37	chr3	52422840	52422840	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	agctcatcaacgggctgtcgGatgagaaggtgcgctggcag	9	7	16	9	3	2	1	2	1	0	1	3	3	2	2	0	4	3	4	0	4	2	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:52422840G>A	ENST00000420323.2	+	59	9643	c.9382G>A	c.(9382-9384)Gat>Aat	p.D3128N		NM_015512.4	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	3193					cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|response to mechanical stimulus (GO:0009612)	axonemal dynein complex (GO:0005858)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		CGGGCTGTCGGATGAGAAGGT	0.662																																						ENST00000420323.2																			0				cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62						c.(9382-9384)Gat>Aat		dynein, axonemal, heavy chain 1							45	53	51					3																	52422840		2096	4211	6307	SO:0001583	missense	25981				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr3:52422840G>A	U61738	CCDS46842.1	3p21-p14	2008-02-05	2006-09-04		ENSG00000114841	ENSG00000114841		"Axonemal dyneins"	2940	protein-coding gene	gene with protein product		603332	"dynein, axonemal, heavy polypeptide 1"			8812413, 9256245	Standard	NM_015512		Approved	XLHSRF-1, DNAHC1, HDHC7, HL-11, HL11	uc011bef.2	Q9P2D7	OTTHUMG00000158378	ENST00000420323.2:c.9382G>A	3.37:g.52422840G>A	ENSP00000401514:p.Asp3128Asn						p.D3128N	NM_015512.4	NP_056327.4	Q9P2D7	DYH1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	59	9643	+			3193					B0I1R6|O00436|O15435|O95491|Q6ZU48|Q86YK7|Q8TEJ4|Q92863|Q9H8E6|Q9UFW6|Q9Y4Z7	Missense_Mutation	SNP	ENST00000420323.2	37	c.9382G>A	CCDS46842.1	.	.	.	.	.	.	.	.	.	.	G	14.83	2.653274	0.47362	.	.	ENSG00000114841	ENST00000420323	T	0.74106	-0.81	4.92	4.92	0.64577	.	0.000000	0.64402	D	0.000002	D	0.85617	0.5738	M	0.81942	2.565	0.47009	D	0.999286	D	0.76494	0.999	D	0.74348	0.983	D	0.87485	0.2423	10	0.72032	D	0.01	.	13.5592	0.61779	0.0775:0.0:0.9225:0.0	.	3128	C9JXH6	.	N	3128	ENSP00000401514:D3128N	ENSP00000401514:D3128N	D	+	1	0	DNAH1	52397880	1.000000	0.71417	0.131000	0.22000	0.513000	0.34164	9.049000	0.93837	2.288000	0.76882	0.561000	0.74099	GAT		0.662	DNAH1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350816.1	NM_015512		16	21	0	0	0	1	0	16	21					A	52422840	G	A	52422840	3	1	435	1	0	0	0	0	1	0	0	0	4597	1174	41	3	9612	3	DNAH1	3	52422840	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	31175	52422840	145599590	1853	22778											
DNAH1	25981	broad.mit.edu	37	chr3	52426962	52426962	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgtgtgtccgacctggccaaCgtggaccccatgtaccagta	8	9	11	13	2	0	0	0	0	0	0	1	2	1	1	6	2	2	2	6	2	3	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:52426962C>T	ENST00000420323.2	+	65	10656	c.10395C>T	c.(10393-10395)aaC>aaT	p.N3465N		NM_015512.4	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	3530	AAA 5. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|response to mechanical stimulus (GO:0009612)	axonemal dynein complex (GO:0005858)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		ACCTGGCCAACGTGGACCCCA	0.582																																						ENST00000420323.2																			0				cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62						c.(10393-10395)aaC>aaT		dynein, axonemal, heavy chain 1							184	198	193					3																	52426962		2090	4219	6309	SO:0001819	synonymous_variant	25981				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr3:52426962C>T	U61738	CCDS46842.1	3p21-p14	2008-02-05	2006-09-04		ENSG00000114841	ENSG00000114841		"Axonemal dyneins"	2940	protein-coding gene	gene with protein product		603332	"dynein, axonemal, heavy polypeptide 1"			8812413, 9256245	Standard	NM_015512		Approved	XLHSRF-1, DNAHC1, HDHC7, HL-11, HL11	uc011bef.2	Q9P2D7	OTTHUMG00000158378	ENST00000420323.2:c.10395C>T	3.37:g.52426962C>T							p.N3465N	NM_015512.4	NP_056327.4	Q9P2D7	DYH1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	65	10656	+			3530			AAA 5 (By similarity).		B0I1R6|O00436|O15435|O95491|Q6ZU48|Q86YK7|Q8TEJ4|Q92863|Q9H8E6|Q9UFW6|Q9Y4Z7	Silent	SNP	ENST00000420323.2	37	c.10395C>T	CCDS46842.1																																																																																				0.582	DNAH1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350816.1	NM_015512		14	106	0	0	0	1	0	14	106					T	52426962	C	T	52426962	2	4	435	1	0	0	0	0	0	0	0	1	4597	535	19	1		1	DNAH1	3	52426962	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	4122	52426962	145595468	1854	22779											
DNAH1	25981	broad.mit.edu	37	chr3	52428607	52428607	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgaacctgccaaccttttccTccttctcttccgacttcgtg	5	14	5	17	3	1	0	0	0	1	0	6	2	4	0	6	0	3	0	6	0	2	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:52428607T>C	ENST00000420323.2	+	67	11014	c.10753T>C	c.(10753-10755)Tcc>Ccc	p.S3585P		NM_015512.4	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	3650					cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|response to mechanical stimulus (GO:0009612)	axonemal dynein complex (GO:0005858)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		AACCTTTTCCTCCTTCTCTTC	0.577																																						ENST00000420323.2																			0				cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62						c.(10753-10755)Tcc>Ccc		dynein, axonemal, heavy chain 1							107	113	111					3																	52428607		2007	4178	6185	SO:0001583	missense	25981				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr3:52428607T>C	U61738	CCDS46842.1	3p21-p14	2008-02-05	2006-09-04		ENSG00000114841	ENSG00000114841		"Axonemal dyneins"	2940	protein-coding gene	gene with protein product		603332	"dynein, axonemal, heavy polypeptide 1"			8812413, 9256245	Standard	NM_015512		Approved	XLHSRF-1, DNAHC1, HDHC7, HL-11, HL11	uc011bef.2	Q9P2D7	OTTHUMG00000158378	ENST00000420323.2:c.10753T>C	3.37:g.52428607T>C	ENSP00000401514:p.Ser3585Pro						p.S3585P	NM_015512.4	NP_056327.4	Q9P2D7	DYH1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	67	11014	+			3650					B0I1R6|O00436|O15435|O95491|Q6ZU48|Q86YK7|Q8TEJ4|Q92863|Q9H8E6|Q9UFW6|Q9Y4Z7	Missense_Mutation	SNP	ENST00000420323.2	37	c.10753T>C	CCDS46842.1	.	.	.	.	.	.	.	.	.	.	T	12.47	1.948609	0.34377	.	.	ENSG00000114841	ENST00000420323;ENST00000273600	T	0.09073	3.02	5.15	-7.19	0.01500	.	1.007470	0.07977	N	0.984900	T	0.07369	0.0186	L	0.43646	1.37	0.09310	N	1	B;B	0.30634	0.288;0.256	B;B	0.33620	0.167;0.099	T	0.45789	-0.9237	10	0.72032	D	0.01	.	8.0302	0.30461	0.3138:0.0:0.3978:0.2885	.	3585;3650	C9JXH6;Q9P2D7-2	.;.	P	3585;338	ENSP00000401514:S3585P	ENSP00000273600:S338P	S	+	1	0	DNAH1	52403647	0.000000	0.05858	0.006000	0.13384	0.499000	0.33736	-0.715000	0.04997	-0.679000	0.05217	0.533000	0.62120	TCC		0.577	DNAH1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350816.1	NM_015512		6	34	0	0	0	1	0	6	34					C	52428607	T	C	52428607	3	2	435	1	0	0	0	0	1	0	0	0	4597	1551	54	4	11015	4	DNAH1	3	52428607	Missense_Mutation	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	1645	52428607	145593823	1855	22780											
DNAH1	25981	broad.mit.edu	37	chr3	52429427	52429427	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tgccgacctctacaagtttgCcgaagaaatgaagttctcca	12	10	8	11	2	2	2	0	1	2	1	3	4	2	2	4	0	3	2	4	0	5	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:52429427C>T	ENST00000420323.2	+	69	11333	c.11072C>T	c.(11071-11073)gCc>gTc	p.A3691V		NM_015512.4	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	3756					cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|response to mechanical stimulus (GO:0009612)	axonemal dynein complex (GO:0005858)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		TACAAGTTTGCCGAAGAAATG	0.587																																						ENST00000420323.2																			0				cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62						c.(11071-11073)gCc>gTc		dynein, axonemal, heavy chain 1							46	46	46					3																	52429427		1956	4132	6088	SO:0001583	missense	25981				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr3:52429427C>T	U61738	CCDS46842.1	3p21-p14	2008-02-05	2006-09-04		ENSG00000114841	ENSG00000114841		"Axonemal dyneins"	2940	protein-coding gene	gene with protein product		603332	"dynein, axonemal, heavy polypeptide 1"			8812413, 9256245	Standard	NM_015512		Approved	XLHSRF-1, DNAHC1, HDHC7, HL-11, HL11	uc011bef.2	Q9P2D7	OTTHUMG00000158378	ENST00000420323.2:c.11072C>T	3.37:g.52429427C>T	ENSP00000401514:p.Ala3691Val						p.A3691V	NM_015512.4	NP_056327.4	Q9P2D7	DYH1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	69	11333	+			3756					B0I1R6|O00436|O15435|O95491|Q6ZU48|Q86YK7|Q8TEJ4|Q92863|Q9H8E6|Q9UFW6|Q9Y4Z7	Missense_Mutation	SNP	ENST00000420323.2	37	c.11072C>T	CCDS46842.1	.	.	.	.	.	.	.	.	.	.	C	34	5.387203	0.95988	.	.	ENSG00000114841	ENST00000420323;ENST00000273600	T	0.12984	2.63	4.9	4.9	0.64082	.	0.000000	0.64402	D	0.000004	T	0.53981	0.1830	H	0.96996	3.92	0.80722	D	1	D;D	0.89917	1.0;0.998	D;D	0.91635	0.999;0.994	T	0.72833	-0.4173	10	0.87932	D	0	.	18.1022	0.89509	0.0:1.0:0.0:0.0	.	3691;3756	C9JXH6;Q9P2D7-2	.;.	V	3691;444	ENSP00000401514:A3691V	ENSP00000273600:A444V	A	+	2	0	DNAH1	52404467	1.000000	0.71417	0.966000	0.40874	0.938000	0.57974	5.863000	0.69568	2.263000	0.75096	0.655000	0.94253	GCC		0.587	DNAH1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350816.1	NM_015512		5	18	0	0	0	1	0	5	18					T	52429427	C	T	52429427	3	4	435	1	0	0	0	0	1	0	0	0	4597	739	26	3	11342	3	DNAH1	3	52429427	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	820	52429427	145593003	1856	22781											
DNAH1	25981	broad.mit.edu	37	chr3	52429586	52429586	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcgggcagaagccatgatGcgcagctccatagagagggg	10	5	15	11	2	0	3	0	1	0	2	2	4	1	3	3	3	3	3	3	3	2	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:52429586G>A	ENST00000420323.2	+	70	11412	c.11151G>A	c.(11149-11151)atG>atA	p.M3717I		NM_015512.4	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	3782	AAA 6. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|response to mechanical stimulus (GO:0009612)	axonemal dynein complex (GO:0005858)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		AAGCCATGATGCGCAGCTCCA	0.637																																						ENST00000420323.2																			0				cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62						c.(11149-11151)atG>atA		dynein, axonemal, heavy chain 1							56	63	60					3																	52429586		2043	4214	6257	SO:0001583	missense	25981				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr3:52429586G>A	U61738	CCDS46842.1	3p21-p14	2008-02-05	2006-09-04		ENSG00000114841	ENSG00000114841		"Axonemal dyneins"	2940	protein-coding gene	gene with protein product		603332	"dynein, axonemal, heavy polypeptide 1"			8812413, 9256245	Standard	NM_015512		Approved	XLHSRF-1, DNAHC1, HDHC7, HL-11, HL11	uc011bef.2	Q9P2D7	OTTHUMG00000158378	ENST00000420323.2:c.11151G>A	3.37:g.52429586G>A	ENSP00000401514:p.Met3717Ile						p.M3717I	NM_015512.4	NP_056327.4	Q9P2D7	DYH1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	70	11412	+			3782			AAA 6 (By similarity).		B0I1R6|O00436|O15435|O95491|Q6ZU48|Q86YK7|Q8TEJ4|Q92863|Q9H8E6|Q9UFW6|Q9Y4Z7	Missense_Mutation	SNP	ENST00000420323.2	37	c.11151G>A	CCDS46842.1	.	.	.	.	.	.	.	.	.	.	G	4.810	0.150592	0.09185	.	.	ENSG00000114841	ENST00000420323;ENST00000273600	T	0.04758	3.56	4.38	3.5	0.40072	.	0.000000	0.85682	D	0.000000	T	0.02012	0.0063	N	0.04148	-0.265	0.38923	D	0.95777	B;B	0.32467	0.015;0.372	B;B	0.30855	0.028;0.121	T	0.43196	-0.9406	10	0.02654	T	1	.	10.8391	0.46704	0.0881:0.0:0.9119:0.0	.	3717;3782	C9JXH6;Q9P2D7-2	.;.	I	3717;470	ENSP00000401514:M3717I	ENSP00000273600:M470I	M	+	3	0	DNAH1	52404626	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.120000	0.50430	1.055000	0.40461	0.655000	0.94253	ATG		0.637	DNAH1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350816.1	NM_015512		12	30	0	0	0	1	0	12	30					A	52429586	G	A	52429586	3	1	435	1	0	0	0	0	1	0	0	0	4597	1319	46	3	11425	3	DNAH1	3	52429586	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	159	52429586	145592844	1857	22782											
DNAH1	25981	broad.mit.edu	37	chr3	52430755	52430755	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gttcacggatggagatctgcGcatctgcatcagccagctca	9	9	11	12	2	5	1	3	0	2	1	5	3	5	2	1	2	4	4	1	2	0	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:52430755G>A	ENST00000420323.2	+	72	11813	c.11552G>A	c.(11551-11553)cGc>cAc	p.R3851H		NM_015512.4	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	3916	AAA 6. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|response to mechanical stimulus (GO:0009612)	axonemal dynein complex (GO:0005858)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		GGAGATCTGCGCATCTGCATC	0.577																																						ENST00000420323.2																			0				cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62						c.(11551-11553)cGc>cAc		dynein, axonemal, heavy chain 1							153	154	154					3																	52430755		2018	4180	6198	SO:0001583	missense	25981				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr3:52430755G>A	U61738	CCDS46842.1	3p21-p14	2008-02-05	2006-09-04		ENSG00000114841	ENSG00000114841		"Axonemal dyneins"	2940	protein-coding gene	gene with protein product		603332	"dynein, axonemal, heavy polypeptide 1"			8812413, 9256245	Standard	NM_015512		Approved	XLHSRF-1, DNAHC1, HDHC7, HL-11, HL11	uc011bef.2	Q9P2D7	OTTHUMG00000158378	ENST00000420323.2:c.11552G>A	3.37:g.52430755G>A	ENSP00000401514:p.Arg3851His						p.R3851H	NM_015512.4	NP_056327.4	Q9P2D7	DYH1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	72	11813	+			3916			AAA 6 (By similarity).		B0I1R6|O00436|O15435|O95491|Q6ZU48|Q86YK7|Q8TEJ4|Q92863|Q9H8E6|Q9UFW6|Q9Y4Z7	Missense_Mutation	SNP	ENST00000420323.2	37	c.11552G>A	CCDS46842.1	.	.	.	.	.	.	.	.	.	.	G	19.43	3.826055	0.71143	.	.	ENSG00000114841	ENST00000420323;ENST00000273600	T	0.10288	2.89	4.34	4.34	0.51931	.	0.158454	0.43747	D	0.000528	T	0.37348	0.1000	M	0.82433	2.59	0.41464	D	0.988067	D;D	0.89917	0.997;1.0	P;D	0.83275	0.879;0.996	T	0.42949	-0.9421	10	0.72032	D	0.01	.	17.0266	0.86448	0.0:0.0:1.0:0.0	.	3851;3916	C9JXH6;Q9P2D7-2	.;.	H	3851;604	ENSP00000401514:R3851H	ENSP00000273600:R604H	R	+	2	0	DNAH1	52405795	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	4.701000	0.61810	2.248000	0.74166	0.591000	0.81541	CGC		0.577	DNAH1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350816.1	NM_015512		9	126	0	0	0	1	0	9	126					A	52430755	G	A	52430755	3	1	435	1	0	0	0	0	1	0	0	0	4597	1087	38	1	11834	1	DNAH1	3	52430755	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	1169	52430755	145591675	1858	22783											
DNAH1	25981	broad.mit.edu	37	chr3	52433005	52433005	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtgcctgagctctggagtGccaaggcctacccatcgctc	6	9	11	15	1	1	1	0	1	1	0	3	2	1	2	4	2	4	2	4	2	2	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:52433005G>A	ENST00000420323.2	+	76	12490	c.12229G>A	c.(12229-12231)Gcc>Acc	p.A4077T		NM_015512.4	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	4142					cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|response to mechanical stimulus (GO:0009612)	axonemal dynein complex (GO:0005858)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		GCTCTGGAGTGCCAAGGCCTA	0.572																																						ENST00000420323.2																			0				cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62						c.(12229-12231)Gcc>Acc		dynein, axonemal, heavy chain 1							81	88	86					3																	52433005		2086	4209	6295	SO:0001583	missense	25981				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr3:52433005G>A	U61738	CCDS46842.1	3p21-p14	2008-02-05	2006-09-04		ENSG00000114841	ENSG00000114841		"Axonemal dyneins"	2940	protein-coding gene	gene with protein product		603332	"dynein, axonemal, heavy polypeptide 1"			8812413, 9256245	Standard	NM_015512		Approved	XLHSRF-1, DNAHC1, HDHC7, HL-11, HL11	uc011bef.2	Q9P2D7	OTTHUMG00000158378	ENST00000420323.2:c.12229G>A	3.37:g.52433005G>A	ENSP00000401514:p.Ala4077Thr						p.A4077T	NM_015512.4	NP_056327.4	Q9P2D7	DYH1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	76	12490	+			4142					B0I1R6|O00436|O15435|O95491|Q6ZU48|Q86YK7|Q8TEJ4|Q92863|Q9H8E6|Q9UFW6|Q9Y4Z7	Missense_Mutation	SNP	ENST00000420323.2	37	c.12229G>A	CCDS46842.1	.	.	.	.	.	.	.	.	.	.	G	10.95	1.494539	0.26774	.	.	ENSG00000114841	ENST00000420323;ENST00000273600	T	0.08720	3.06	4.34	2.43	0.29744	.	0.536026	0.16949	N	0.192967	T	0.05731	0.0150	L	0.41124	1.26	0.09310	N	1	B;B	0.17667	0.01;0.023	B;B	0.21546	0.035;0.007	T	0.40289	-0.9571	10	0.21014	T	0.42	.	0.4081	0.00436	0.2287:0.1565:0.2944:0.3204	.	4077;4142	C9JXH6;Q9P2D7-2	.;.	T	4077;830	ENSP00000401514:A4077T	ENSP00000273600:A830T	A	+	1	0	DNAH1	52408045	0.006000	0.16342	0.882000	0.34594	0.995000	0.86356	0.079000	0.14782	0.514000	0.28300	0.655000	0.94253	GCC		0.572	DNAH1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350816.1	NM_015512		4	53	0	0	0	1	0	4	53					A	52433005	G	A	52433005	3	1	435	1	0	0	0	0	1	0	0	0	4597	1319	46	3	12527	3	DNAH1	3	52433005	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	2250	52433005	145589425	1859	22784											
BAP1	8314	broad.mit.edu	37	chr3	52437772	52437772	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgctgctagtcttgatggaCagaggaattgagaggtcctt	9	11	13	8	1	1	3	0	2	1	2	2	6	2	5	2	3	1	2	2	3	2	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:52437772C>T	ENST00000460680.1	-	13	1860	c.1389G>A	c.(1387-1389)ctG>ctA	p.L463L	BAP1_ENST00000296288.5_Silent_p.L445L	NM_004656.2	NP_004647.1	Q99496	RING2_HUMAN	BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)	0					anterior/posterior axis specification (GO:0009948)|gastrulation with mouth forming second (GO:0001702)|histone H2A monoubiquitination (GO:0035518)|histone H2A-K119 monoubiquitination (GO:0036353)|mitotic cell cycle (GO:0000278)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	euchromatin (GO:0000791)|MLL1 complex (GO:0071339)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)|sex chromatin (GO:0001739)|ubiquitin ligase complex (GO:0000151)	chromatin binding (GO:0003682)|ligase activity (GO:0016874)|RING-like zinc finger domain binding (GO:0071535)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|endometrium(3)|eye(42)|kidney(60)|large_intestine(3)|lung(9)|ovary(4)|pleura(39)|prostate(4)|skin(9)|urinary_tract(2)	180				BRCA - Breast invasive adenocarcinoma(193;1.72e-05)|Kidney(197;0.0018)|KIRC - Kidney renal clear cell carcinoma(197;0.00203)|OV - Ovarian serous cystadenocarcinoma(275;0.0277)		TCTTGATGGACAGAGGAATTG	0.592			"N, Mis, F, S, O"		"uveal melanoma, breast, NSCLC, RCC"	"mesothelioma, uveal melanoma"																															GBM(101;493 1458 7992 21037 25532)	ENST00000460680.1				Rec	yes		3	3p21.31-p21.2	8314	"N, Mis, F, S, O"	BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)			E		"mesothelioma, uveal melanoma"	"uveal melanoma, breast, NSCLC, RCC"		0				NS(1)|breast(4)|endometrium(3)|eye(42)|kidney(60)|large_intestine(3)|lung(9)|ovary(4)|pleura(39)|prostate(4)|skin(9)|urinary_tract(2)	180						c.(1387-1389)ctG>ctA		BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)							66	67	67					3																	52437772		2203	4300	6503	SO:0001819	synonymous_variant	8314				monoubiquitinated histone H2A deubiquitination|negative regulation of cell proliferation|protein K48-linked deubiquitination|regulation of cell cycle|regulation of cell growth|ubiquitin-dependent protein catabolic process	cytoplasm|nucleolus|PR-DUB complex	chromatin binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr3:52437772C>T	AF045581	CCDS2853.1	3p21.31-p21.2	2014-09-17			ENSG00000163930	ENSG00000163930			950	protein-coding gene	gene with protein product		603089				9528852	Standard	NM_004656		Approved	hucep-6, KIAA0272, UCHL2	uc003ddx.4	Q92560	OTTHUMG00000158392	ENST00000460680.1:c.1389G>A	3.37:g.52437772C>T						BAP1_ENST00000296288.5_Silent_p.L445L	p.L463L	NM_004656.2	NP_004647.1	Q92560	BAP1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;1.72e-05)|Kidney(197;0.0018)|KIRC - Kidney renal clear cell carcinoma(197;0.00203)|OV - Ovarian serous cystadenocarcinoma(275;0.0277)	13	1860	-			463					B2RBS7|B3KRH1|Q5TEN1|Q5TEN2	Silent	SNP	ENST00000460680.1	37	c.1389G>A	CCDS2853.1																																																																																				0.592	BAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350895.1			6	31	0	0	0	1	0	6	31					T	52437772	C	T	52437772	2	4	435	1	0	0	0	0	0	0	0	1	1311	465	17	3		3	BAP1	3	52437772	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	4767	52437772	145584658	1860	22785											
PHF7	51533	broad.mit.edu	37	chr3	52455688	52455688	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atgcccacacatcagcaaagCatttcttcaaatgtccacag	14	9	5	13	0	3	0	2	0	1	0	4	0	4	0	2	0	3	2	2	0	2	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:52455688C>T	ENST00000327906.3	+	8	1258	c.598C>T	c.(598-600)Cat>Tat	p.H200Y	PHF7_ENST00000347025.2_Missense_Mutation_p.H200Y	NM_016483.4	NP_057567.3	Q9BWX1	PHF7_HUMAN	PHD finger protein 7	200						Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	zinc ion binding (GO:0008270)			breast(2)|large_intestine(4)|lung(3)	9				BRCA - Breast invasive adenocarcinoma(193;1.71e-05)|Kidney(197;0.00178)|KIRC - Kidney renal clear cell carcinoma(197;0.00201)|OV - Ovarian serous cystadenocarcinoma(275;0.0275)		ATCAGCAAAGCATTTCTTCAA	0.433																																						ENST00000327906.3																			0				breast(2)|large_intestine(4)|lung(3)	9						c.(598-600)Cat>Tat		PHD finger protein 7							95	91	92					3																	52455688		2203	4300	6503	SO:0001583	missense	51533					nucleus	zinc ion binding	g.chr3:52455688C>T	AY014283	CCDS2854.1, CCDS2855.1	3p21.31	2013-01-28			ENSG00000010318	ENSG00000010318		"Zinc fingers, PHD-type"	18458	protein-coding gene	gene with protein product						11042152, 11829468	Standard	NM_016483		Approved	NYD-SP6, HSPC226	uc003ddy.3	Q9BWX1	OTTHUMG00000158495	ENST00000327906.3:c.598C>T	3.37:g.52455688C>T	ENSP00000333024:p.His200Tyr					PHF7_ENST00000478707.1_Missense_Mutation_p.H200Y|PHF7_ENST00000347025.2_Missense_Mutation_p.H200Y	p.H200Y	NM_016483.4	NP_057567.3	Q9BWX1	PHF7_HUMAN		BRCA - Breast invasive adenocarcinoma(193;1.71e-05)|Kidney(197;0.00178)|KIRC - Kidney renal clear cell carcinoma(197;0.00201)|OV - Ovarian serous cystadenocarcinoma(275;0.0275)	8	1258	+			200					K4DI82	Missense_Mutation	SNP	ENST00000327906.3	37	c.598C>T	CCDS2854.1	.	.	.	.	.	.	.	.	.	.	C	13.92	2.380764	0.42207	.	.	ENSG00000010318	ENST00000478707;ENST00000327906;ENST00000347025;ENST00000394916	D;D;D	0.91631	-1.92;-1.92;-2.88	6.05	6.05	0.98169	Zinc finger, RING-type (2);	0.100972	0.64402	D	0.000001	D	0.92189	0.7523	L	0.35414	1.06	0.40125	D	0.976649	D;D	0.69078	0.997;0.993	D;D	0.75484	0.986;0.968	D	0.87106	0.2182	10	0.02654	T	1	0.1672	16.1087	0.81244	0.0:1.0:0.0:0.0	.	200;200	A8K856;Q9BWX1	.;PHF7_HUMAN	Y	200;200;200;108	ENSP00000419316:H200Y;ENSP00000333024:H200Y;ENSP00000246282:H200Y	ENSP00000333024:H200Y	H	+	1	0	PHF7	52430728	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.395000	0.44459	2.880000	0.98712	0.655000	0.94253	CAT		0.433	PHF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351155.1	NM_016483		9	40	0	0	0	1	0	9	40					T	52455688	C	T	52455688	3	4	435	1	0	0	0	0	1	0	0	0	11839	710	25	3	624	3	PHF7	3	52455688	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	17916	52455688	145566742	1861	22786											
SEMA3G	56920	broad.mit.edu	37	chr3	52475658	52475658	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ctccacttcggaagatcatgGcctctcgccccaggaagtca	9	8	9	15	2	3	1	2	0	1	1	6	3	4	3	4	3	0	0	4	3	2	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:52475658G>T	ENST00000231721.2	-	6	598	c.599C>A	c.(598-600)gCc>gAc	p.A200D		NM_020163.1	NP_064548.1	Q9NS98	SEM3G_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3G	200	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				multicellular organismal development (GO:0007275)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	receptor activity (GO:0004872)			kidney(1)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)	18				BRCA - Breast invasive adenocarcinoma(193;1.69e-05)|Kidney(197;0.00173)|KIRC - Kidney renal clear cell carcinoma(197;0.00196)|OV - Ovarian serous cystadenocarcinoma(275;0.0333)		GAAGATCATGGCCTCTCGCCC	0.652																																						ENST00000231721.2																			0				kidney(1)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)	18						c.(598-600)gCc>gAc		sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3G							58	58	58					3																	52475658		2203	4300	6503	SO:0001583	missense	56920				multicellular organismal development	extracellular region|membrane	receptor activity	g.chr3:52475658G>T		CCDS2856.1	3p21.1	2013-01-11			ENSG00000010319	ENSG00000010319		"Semaphorins", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	30400	protein-coding gene	gene with protein product						11214971	Standard	XM_005265327		Approved	FLJ00014, sem2	uc003dea.1	Q9NS98	OTTHUMG00000158570	ENST00000231721.2:c.599C>A	3.37:g.52475658G>T	ENSP00000231721:p.Ala200Asp						p.A200D	NM_020163.1	NP_064548.1	Q9NS98	SEM3G_HUMAN		BRCA - Breast invasive adenocarcinoma(193;1.69e-05)|Kidney(197;0.00173)|KIRC - Kidney renal clear cell carcinoma(197;0.00196)|OV - Ovarian serous cystadenocarcinoma(275;0.0333)	6	598	-			200			Sema.		Q7L9D9|Q9H7Q3	Missense_Mutation	SNP	ENST00000231721.2	37	c.599C>A	CCDS2856.1	.	.	.	.	.	.	.	.	.	.	G	18.68	3.675151	0.67928	.	.	ENSG00000010319	ENST00000231721	T	0.12255	2.7	4.84	4.84	0.62591	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.179084	0.50627	D	0.000117	T	0.40570	0.1122	M	0.88842	2.985	0.34937	D	0.749965	P	0.46912	0.886	P	0.56474	0.799	T	0.60994	-0.7152	10	0.54805	T	0.06	.	17.5353	0.87829	0.0:0.0:1.0:0.0	.	200	Q9NS98	SEM3G_HUMAN	D	200	ENSP00000231721:A200D	ENSP00000231721:A200D	A	-	2	0	SEMA3G	52450698	1.000000	0.71417	1.000000	0.80357	0.442000	0.32017	4.851000	0.62896	2.249000	0.74217	0.462000	0.41574	GCC		0.652	SEMA3G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351354.1	NM_020163		14	11	1	0	4.3838e-07	1	4.58243e-07	14	11					T	52475658	G	T	52475658	3	4	435	1	0	0	0	0	1	0	0	0	14030	1203	42	5	1793	5	SEMA3G	3	52475658	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	19970	52475658	145546772	1862	22787											
NISCH	11188	broad.mit.edu	37	chr3	52521840	52521840	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttggcttcctcatgccggagCtgtgtctggtgctcaaggta	5	13	13	10	1	3	0	2	0	1	0	4	1	4	1	2	4	3	4	2	4	2	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:52521840C>T	ENST00000479054.1	+	17	2404	c.2332C>T	c.(2332-2334)Ctg>Ttg	p.L778L	NISCH_ENST00000345716.4_Silent_p.L778L			Q9Y2I1	NISCH_HUMAN	nischarin	778	Interaction with ITGA5. {ECO:0000250}.|Interaction with LIMK. {ECO:0000250}.|Interaction with PAK1. {ECO:0000250}.				actin cytoskeleton organization (GO:0030036)|apoptotic process (GO:0006915)|glucose metabolic process (GO:0006006)|negative regulation of cell migration (GO:0030336)|norepinephrine secretion (GO:0048243)|Rac protein signal transduction (GO:0016601)|regulation of blood pressure (GO:0008217)|regulation of synaptic transmission, GABAergic (GO:0032228)	cytosol (GO:0005829)|endosome (GO:0005768)|membrane (GO:0016020)|plasma membrane (GO:0005886)	G-protein coupled amine receptor activity (GO:0008227)|identical protein binding (GO:0042802)|phosphatidylinositol binding (GO:0035091)			NS(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	33				BRCA - Breast invasive adenocarcinoma(193;1.93e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)|OV - Ovarian serous cystadenocarcinoma(275;0.0577)	Tizanidine(DB00697)	CATGCCGGAGCTGTGTCTGGT	0.602																																						ENST00000345716.4																			0				NS(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	33						c.(2332-2334)Ctg>Ttg		nischarin							100	85	90					3																	52521840		2203	4300	6503	SO:0001819	synonymous_variant	11188				apoptosis|cell communication	cytosol|early endosome|plasma membrane|recycling endosome	phosphatidylinositol binding|receptor activity	g.chr3:52521840C>T	AF082516	CCDS33767.1, CCDS63651.1, CCDS63652.1	3p21.1	2008-07-18			ENSG00000010322	ENSG00000010322			18006	protein-coding gene	gene with protein product	"imidazoline receptor candidate", "I-1 receptor candidate protein", "imidazoline receptor antisera selected"	615507				11912194, 10882231	Standard	NM_007184		Approved	KIAA0975, I-1, IRAS	uc003ded.4	Q9Y2I1	OTTHUMG00000158571	ENST00000479054.1:c.2332C>T	3.37:g.52521840C>T						NISCH_ENST00000479054.1_Silent_p.L778L	p.L778L	NM_007184.3	NP_009115.2	Q9Y2I1	NISCH_HUMAN		BRCA - Breast invasive adenocarcinoma(193;1.93e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)|OV - Ovarian serous cystadenocarcinoma(275;0.0577)	16	2466	+			778			Interaction with ITGA5 (By similarity).|Interaction with LIMK (By similarity).|Interaction with PAK1 (By similarity).		C9J245|Q6PGP3|Q6PIB4|Q7L8M3|Q7Z2X6|Q9UES6|Q9UEU4|Q9UFW3	Silent	SNP	ENST00000479054.1	37	c.2332C>T	CCDS33767.1																																																																																				0.602	NISCH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351357.1	NM_007184		20	26	0	0	0	1	0	20	26					T	52521840	C	T	52521840	2	4	435	1	0	0	0	0	0	0	0	1	10432	796	28	3		3	NISCH	3	52521840	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	46182	52521840	145500590	1863	22788											
NISCH	11188	broad.mit.edu	37	chr3	52522464	52522464	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctttgtcactgccatcttcGtgctgccccacgagaagttc	6	12	9	14	2	2	1	1	0	1	1	4	2	2	1	3	0	3	3	3	0	1	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:52522464G>A	ENST00000479054.1	+	17	3028	c.2956G>A	c.(2956-2958)Gtg>Atg	p.V986M	NISCH_ENST00000345716.4_Missense_Mutation_p.V986M			Q9Y2I1	NISCH_HUMAN	nischarin	986					actin cytoskeleton organization (GO:0030036)|apoptotic process (GO:0006915)|glucose metabolic process (GO:0006006)|negative regulation of cell migration (GO:0030336)|norepinephrine secretion (GO:0048243)|Rac protein signal transduction (GO:0016601)|regulation of blood pressure (GO:0008217)|regulation of synaptic transmission, GABAergic (GO:0032228)	cytosol (GO:0005829)|endosome (GO:0005768)|membrane (GO:0016020)|plasma membrane (GO:0005886)	G-protein coupled amine receptor activity (GO:0008227)|identical protein binding (GO:0042802)|phosphatidylinositol binding (GO:0035091)			NS(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	33				BRCA - Breast invasive adenocarcinoma(193;1.93e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)|OV - Ovarian serous cystadenocarcinoma(275;0.0577)	Tizanidine(DB00697)	TGCCATCTTCGTGCTGCCCCA	0.642																																						ENST00000345716.4																			0				NS(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	33						c.(2956-2958)Gtg>Atg		nischarin							69	69	69					3																	52522464		2203	4300	6503	SO:0001583	missense	11188				apoptosis|cell communication	cytosol|early endosome|plasma membrane|recycling endosome	phosphatidylinositol binding|receptor activity	g.chr3:52522464G>A	AF082516	CCDS33767.1, CCDS63651.1, CCDS63652.1	3p21.1	2008-07-18			ENSG00000010322	ENSG00000010322			18006	protein-coding gene	gene with protein product	"imidazoline receptor candidate", "I-1 receptor candidate protein", "imidazoline receptor antisera selected"	615507				11912194, 10882231	Standard	NM_007184		Approved	KIAA0975, I-1, IRAS	uc003ded.4	Q9Y2I1	OTTHUMG00000158571	ENST00000479054.1:c.2956G>A	3.37:g.52522464G>A	ENSP00000418232:p.Val986Met					NISCH_ENST00000479054.1_Missense_Mutation_p.V986M	p.V986M	NM_007184.3	NP_009115.2	Q9Y2I1	NISCH_HUMAN		BRCA - Breast invasive adenocarcinoma(193;1.93e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)|OV - Ovarian serous cystadenocarcinoma(275;0.0577)	16	3090	+			986					C9J245|Q6PGP3|Q6PIB4|Q7L8M3|Q7Z2X6|Q9UES6|Q9UEU4|Q9UFW3	Missense_Mutation	SNP	ENST00000479054.1	37	c.2956G>A	CCDS33767.1	.	.	.	.	.	.	.	.	.	.	G	18.47	3.631551	0.67015	.	.	ENSG00000010322	ENST00000479054;ENST00000345716;ENST00000414197	T;T	0.63580	-0.05;-0.05	5.21	5.21	0.72293	.	0.134405	0.51477	D	0.000095	T	0.71350	0.3329	L	0.32530	0.975	0.40144	D	0.976866	D	0.89917	1.0	D	0.69142	0.962	T	0.75622	-0.3254	10	0.87932	D	0	-25.5171	18.7518	0.91819	0.0:0.0:1.0:0.0	.	986	Q9Y2I1	NISCH_HUMAN	M	986;986;330	ENSP00000418232:V986M;ENSP00000339958:V986M	ENSP00000339958:V986M	V	+	1	0	NISCH	52497504	1.000000	0.71417	0.998000	0.56505	0.898000	0.52572	4.219000	0.58561	2.434000	0.82447	0.462000	0.41574	GTG		0.642	NISCH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351357.1	NM_007184		13	51	0	0	0	1	0	13	51					A	52522464	G	A	52522464	3	1	435	1	0	0	0	0	1	0	0	0	10432	1145	40	1	3018	1	NISCH	3	52522464	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	624	52522464	145499966	1864	22789											
STAB1	23166	broad.mit.edu	37	chr3	52539715	52539715	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gccctccatcctggacggacCtgggcccttcacagtctttg	5	10	10	16	1	2	0	1	0	1	0	4	2	4	2	5	3	0	0	5	3	0	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:52539715C>A	ENST00000321725.6	+	15	1689	c.1613C>A	c.(1612-1614)cCt>cAt	p.P538H		NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN	stabilin 1	538	FAS1 2. {ECO:0000255|PROSITE- ProRule:PRU00082, ECO:0000305}.				cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|defense response to bacterium (GO:0042742)|inflammatory response (GO:0006954)|negative regulation of angiogenesis (GO:0016525)|oxidation-reduction process (GO:0055114)|receptor-mediated endocytosis (GO:0006898)	endocytic vesicle membrane (GO:0030666)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	hyaluronic acid binding (GO:0005540)|low-density lipoprotein particle binding (GO:0030169)|low-density lipoprotein receptor activity (GO:0005041)|protein disulfide oxidoreductase activity (GO:0015035)|scavenger receptor activity (GO:0005044)			breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		CTGGACGGACCTGGGCCCTTC	0.632																																						ENST00000321725.6																			0				breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76						c.(1612-1614)cCt>cAt		stabilin 1							72	65	67					3																	52539715		2203	4300	6503	SO:0001583	missense	23166				cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity	g.chr3:52539715C>A	AJ275213	CCDS33768.1	3p21.31	2008-07-18			ENSG00000010327	ENSG00000010327			18628	protein-coding gene	gene with protein product	"MS-1 antigen", "fasciclin egf-like, laminin-type egf-like, and link domain-containing scavenger receptor-1", "common lymphatic endothelial and vascular endothelial receptor-1"	608560				11829752, 12077138	Standard	XM_005264973		Approved	KIAA0246, STAB-1, FEEL-1, CLEVER-1, FELE-1, FEX1	uc003dej.3	Q9NY15	OTTHUMG00000158574	ENST00000321725.6:c.1613C>A	3.37:g.52539715C>A	ENSP00000312946:p.Pro538His						p.P538H	NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)	15	1689	+			538			FAS1 2.		A7E297|Q8IUH0|Q8IUH1|Q93072	Missense_Mutation	SNP	ENST00000321725.6	37	c.1613C>A	CCDS33768.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.190217	0.78789	.	.	ENSG00000010327	ENST00000321725	D	0.89681	-2.55	5.54	4.67	0.58626	FAS1 domain (4);	0.000000	0.85682	D	0.000000	D	0.93893	0.8046	M	0.80508	2.5	0.45139	D	0.998151	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.93121	0.6525	10	0.35671	T	0.21	.	13.8101	0.63256	0.0:0.8465:0.1535:0.0	.	538;538	Q9NY15;Q9NY15-2	STAB1_HUMAN;.	H	538	ENSP00000312946:P538H	ENSP00000312946:P538H	P	+	2	0	STAB1	52514755	0.999000	0.42202	0.966000	0.40874	0.999000	0.98932	6.040000	0.70980	1.345000	0.45676	0.655000	0.94253	CCT		0.632	STAB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351380.2	NM_015136		10	16	1	0	2.27111e-07	1	2.37911e-07	10	16					A	52539715	C	A	52539715	3	1	435	1	0	0	0	0	1	0	0	0	15236	681	24	5	1671	5	STAB1	3	52539715	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	17251	52539715	145482715	1865	22790											
STAB1	23166	broad.mit.edu	37	chr3	52540756	52540756	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcccgctgcagagggtagacGtgatggccgccaatggtgtg	7	8	16	10	3	0	3	0	1	0	2	1	3	1	3	3	3	1	3	3	3	2	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:52540756G>A	ENST00000321725.6	+	18	1955	c.1879G>A	c.(1879-1881)Gtg>Atg	p.V627M		NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN	stabilin 1	627	FAS1 2. {ECO:0000255|PROSITE- ProRule:PRU00082, ECO:0000305}.				cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|defense response to bacterium (GO:0042742)|inflammatory response (GO:0006954)|negative regulation of angiogenesis (GO:0016525)|oxidation-reduction process (GO:0055114)|receptor-mediated endocytosis (GO:0006898)	endocytic vesicle membrane (GO:0030666)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	hyaluronic acid binding (GO:0005540)|low-density lipoprotein particle binding (GO:0030169)|low-density lipoprotein receptor activity (GO:0005041)|protein disulfide oxidoreductase activity (GO:0015035)|scavenger receptor activity (GO:0005044)			breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		GAGGGTAGACGTGATGGCCGC	0.682																																						ENST00000321725.6																			0				breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76						c.(1879-1881)Gtg>Atg		stabilin 1							52	50	51					3																	52540756		2203	4300	6503	SO:0001583	missense	23166				cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity	g.chr3:52540756G>A	AJ275213	CCDS33768.1	3p21.31	2008-07-18			ENSG00000010327	ENSG00000010327			18628	protein-coding gene	gene with protein product	"MS-1 antigen", "fasciclin egf-like, laminin-type egf-like, and link domain-containing scavenger receptor-1", "common lymphatic endothelial and vascular endothelial receptor-1"	608560				11829752, 12077138	Standard	XM_005264973		Approved	KIAA0246, STAB-1, FEEL-1, CLEVER-1, FELE-1, FEX1	uc003dej.3	Q9NY15	OTTHUMG00000158574	ENST00000321725.6:c.1879G>A	3.37:g.52540756G>A	ENSP00000312946:p.Val627Met						p.V627M	NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)	18	1955	+			627			FAS1 2.		A7E297|Q8IUH0|Q8IUH1|Q93072	Missense_Mutation	SNP	ENST00000321725.6	37	c.1879G>A	CCDS33768.1	.	.	.	.	.	.	.	.	.	.	G	7.417	0.635969	0.14386	.	.	ENSG00000010327	ENST00000321725	T	0.73258	-0.73	4.81	-2.84	0.05751	FAS1 domain (5);	0.613263	0.14682	N	0.304699	T	0.61763	0.2373	M	0.89478	3.035	0.09310	N	1	B;P	0.35944	0.236;0.529	B;B	0.26614	0.05;0.071	T	0.58940	-0.7547	10	0.87932	D	0	.	0.2451	0.00197	0.3614:0.1517:0.1819:0.305	.	627;627	Q9NY15;Q9NY15-2	STAB1_HUMAN;.	M	627	ENSP00000312946:V627M	ENSP00000312946:V627M	V	+	1	0	STAB1	52515796	0.008000	0.16893	0.012000	0.15200	0.006000	0.05464	0.182000	0.16900	-0.447000	0.07138	-0.467000	0.05162	GTG		0.682	STAB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351380.2	NM_015136		6	11	0	0	0	1	0	6	11					A	52540756	G	A	52540756	3	1	435	1	0	0	0	0	1	0	0	0	15236	1145	40	1	1949	1	STAB1	3	52540756	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	1041	52540756	145481674	1866	22791											
STAB1	23166	broad.mit.edu	37	chr3	52544490	52544490	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atgagaggtggctgccacacCgatgccctctgcagctatgt	8	9	12	12	1	1	1	0	1	1	1	1	3	1	1	3	2	4	3	3	2	1	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:52544490C>T	ENST00000321725.6	+	25	2830	c.2754C>T	c.(2752-2754)acC>acT	p.T918T		NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN	stabilin 1	918	EGF-like 8. {ECO:0000255|PROSITE- ProRule:PRU00076, ECO:0000305}.				cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|defense response to bacterium (GO:0042742)|inflammatory response (GO:0006954)|negative regulation of angiogenesis (GO:0016525)|oxidation-reduction process (GO:0055114)|receptor-mediated endocytosis (GO:0006898)	endocytic vesicle membrane (GO:0030666)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	hyaluronic acid binding (GO:0005540)|low-density lipoprotein particle binding (GO:0030169)|low-density lipoprotein receptor activity (GO:0005041)|protein disulfide oxidoreductase activity (GO:0015035)|scavenger receptor activity (GO:0005044)			breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		GCTGCCACACCGATGCCCTCT	0.637																																						ENST00000321725.6																			0				breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76						c.(2752-2754)acC>acT		stabilin 1							59	53	55					3																	52544490		2203	4300	6503	SO:0001819	synonymous_variant	23166				cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity	g.chr3:52544490C>T	AJ275213	CCDS33768.1	3p21.31	2008-07-18			ENSG00000010327	ENSG00000010327			18628	protein-coding gene	gene with protein product	"MS-1 antigen", "fasciclin egf-like, laminin-type egf-like, and link domain-containing scavenger receptor-1", "common lymphatic endothelial and vascular endothelial receptor-1"	608560				11829752, 12077138	Standard	XM_005264973		Approved	KIAA0246, STAB-1, FEEL-1, CLEVER-1, FELE-1, FEX1	uc003dej.3	Q9NY15	OTTHUMG00000158574	ENST00000321725.6:c.2754C>T	3.37:g.52544490C>T							p.T918T	NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)	25	2830	+			918			EGF-like 8.		A7E297|Q8IUH0|Q8IUH1|Q93072	Silent	SNP	ENST00000321725.6	37	c.2754C>T	CCDS33768.1																																																																																				0.637	STAB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351380.2	NM_015136		12	14	0	0	0	1	0	12	14					T	52544490	C	T	52544490	2	4	435	1	0	0	0	0	0	0	0	1	15236	639	23	2		2	STAB1	3	52544490	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	3734	52544490	145477940	1867	22792											
STAB1	23166	broad.mit.edu	37	chr3	52552767	52552767	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcccggattcgtgcgcatcGccagctggtgtttcgctacc	4	10	13	14	5	0	0	0	0	0	0	3	1	0	1	3	3	3	4	3	3	1	3	rs148162424		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:52552767G>A	ENST00000321725.6	+	48	4992	c.4916G>A	c.(4915-4917)cGc>cAc	p.R1639H		NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN	stabilin 1	1639	FAS1 5. {ECO:0000255|PROSITE- ProRule:PRU00082, ECO:0000305}.				cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|defense response to bacterium (GO:0042742)|inflammatory response (GO:0006954)|negative regulation of angiogenesis (GO:0016525)|oxidation-reduction process (GO:0055114)|receptor-mediated endocytosis (GO:0006898)	endocytic vesicle membrane (GO:0030666)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	hyaluronic acid binding (GO:0005540)|low-density lipoprotein particle binding (GO:0030169)|low-density lipoprotein receptor activity (GO:0005041)|protein disulfide oxidoreductase activity (GO:0015035)|scavenger receptor activity (GO:0005044)			breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		CGTGCGCATCGCCAGCTGGTG	0.692																																						ENST00000321725.6																			0				breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76						c.(4915-4917)cGc>cAc		stabilin 1							39	43	42					3																	52552767		2203	4300	6503	SO:0001583	missense	23166				cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity	g.chr3:52552767G>A	AJ275213	CCDS33768.1	3p21.31	2008-07-18			ENSG00000010327	ENSG00000010327			18628	protein-coding gene	gene with protein product	"MS-1 antigen", "fasciclin egf-like, laminin-type egf-like, and link domain-containing scavenger receptor-1", "common lymphatic endothelial and vascular endothelial receptor-1"	608560				11829752, 12077138	Standard	XM_005264973		Approved	KIAA0246, STAB-1, FEEL-1, CLEVER-1, FELE-1, FEX1	uc003dej.3	Q9NY15	OTTHUMG00000158574	ENST00000321725.6:c.4916G>A	3.37:g.52552767G>A	ENSP00000312946:p.Arg1639His						p.R1639H	NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)	48	4992	+			1639			FAS1 5.		A7E297|Q8IUH0|Q8IUH1|Q93072	Missense_Mutation	SNP	ENST00000321725.6	37	c.4916G>A	CCDS33768.1	.	.	.	.	.	.	.	.	.	.	G	11.26	1.586560	0.28268	.	.	ENSG00000010327	ENST00000321725	D	0.90444	-2.67	5.26	4.39	0.52855	FAS1 domain (5);	0.379400	0.27172	N	0.020582	T	0.80686	0.4670	N	0.24115	0.695	0.31758	N	0.633732	B	0.21606	0.058	B	0.19946	0.027	T	0.72640	-0.4232	10	0.13470	T	0.59	.	7.1336	0.25515	0.0878:0.0:0.7324:0.1798	.	1639	Q9NY15	STAB1_HUMAN	H	1639	ENSP00000312946:R1639H	ENSP00000312946:R1639H	R	+	2	0	STAB1	52527807	0.999000	0.42202	0.804000	0.32291	0.171000	0.22731	2.526000	0.45607	1.217000	0.43442	0.655000	0.94253	CGC		0.692	STAB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351380.2	NM_015136		8	12	0	0	0	1	0	8	12					A	52552767	G	A	52552767	3	1	435	1	0	0	0	0	1	0	0	0	15236	1087	38	1	5106	1	STAB1	3	52552767	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	8277	52552767	145469663	1868	22793											
STAB1	23166	broad.mit.edu	37	chr3	52556356	52556356	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccaaccccagaacacacggcGctgtgagtgccacgcaggct	10	4	11	16	3	0	2	0	1	0	1	0	2	0	2	4	2	3	3	4	2	2	0	rs375503669		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:52556356G>A	ENST00000321725.6	+	60	6552	c.6476G>A	c.(6475-6477)cGc>cAc	p.R2159H		NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN	stabilin 1	2159	EGF-like 16. {ECO:0000255|PROSITE- ProRule:PRU00076, ECO:0000305}.				cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|defense response to bacterium (GO:0042742)|inflammatory response (GO:0006954)|negative regulation of angiogenesis (GO:0016525)|oxidation-reduction process (GO:0055114)|receptor-mediated endocytosis (GO:0006898)	endocytic vesicle membrane (GO:0030666)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	hyaluronic acid binding (GO:0005540)|low-density lipoprotein particle binding (GO:0030169)|low-density lipoprotein receptor activity (GO:0005041)|protein disulfide oxidoreductase activity (GO:0015035)|scavenger receptor activity (GO:0005044)			breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		AACACACGGCGCTGTGAGTGC	0.657																																						ENST00000321725.6																			0				breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76						c.(6475-6477)cGc>cAc		stabilin 1		G	HIS/ARG	0,4406		0,0,2203	61	65	64		6476	4.7	1	3		64	1,8599	1.2+/-3.3	0,1,4299	no	missense	STAB1	NM_015136.2	29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	2159/2571	52556356	1,13005	2203	4300	6503	SO:0001583	missense	23166				cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity	g.chr3:52556356G>A	AJ275213	CCDS33768.1	3p21.31	2008-07-18			ENSG00000010327	ENSG00000010327			18628	protein-coding gene	gene with protein product	"MS-1 antigen", "fasciclin egf-like, laminin-type egf-like, and link domain-containing scavenger receptor-1", "common lymphatic endothelial and vascular endothelial receptor-1"	608560				11829752, 12077138	Standard	XM_005264973		Approved	KIAA0246, STAB-1, FEEL-1, CLEVER-1, FELE-1, FEX1	uc003dej.3	Q9NY15	OTTHUMG00000158574	ENST00000321725.6:c.6476G>A	3.37:g.52556356G>A	ENSP00000312946:p.Arg2159His						p.R2159H	NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)	60	6552	+			2159			EGF-like 16.		A7E297|Q8IUH0|Q8IUH1|Q93072	Missense_Mutation	SNP	ENST00000321725.6	37	c.6476G>A	CCDS33768.1	.	.	.	.	.	.	.	.	.	.	G	16.75	3.208841	0.58343	0.0	1.16E-4	ENSG00000010327	ENST00000321725	T	0.42900	0.96	5.58	4.71	0.59529	Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.319613	0.34245	N	0.004134	T	0.33876	0.0878	L	0.45051	1.395	0.43211	D	0.995079	B;B	0.32160	0.358;0.358	B;B	0.25884	0.043;0.064	T	0.08680	-1.0710	10	0.31617	T	0.26	.	14.3712	0.66840	0.0712:0.0:0.9288:0.0	.	46;2159	B3KSK0;Q9NY15	.;STAB1_HUMAN	H	2159	ENSP00000312946:R2159H	ENSP00000312946:R2159H	R	+	2	0	STAB1	52531396	0.549000	0.26481	1.000000	0.80357	0.949000	0.60115	1.072000	0.30678	1.350000	0.45770	0.549000	0.68633	CGC		0.657	STAB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351380.2	NM_015136		4	46	0	0	0	1	0	4	46					A	52556356	G	A	52556356	3	1	435	1	0	0	0	0	1	0	0	0	15236	1087	38	1	6714	1	STAB1	3	52556356	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	3589	52556356	145466074	1869	22794											
STAB1	23166	broad.mit.edu	37	chr3	52557342	52557342	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcgtccctgtcaatgaaggCtttgtggacaacatggtaac	10	12	10	9	1	1	1	1	1	0	0	3	2	2	2	1	3	2	2	1	3	4	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:52557342C>A	ENST00000321725.6	+	64	7201	c.7125C>A	c.(7123-7125)ggC>ggA	p.G2375G		NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN	stabilin 1	2375	FAS1 7. {ECO:0000255|PROSITE- ProRule:PRU00082, ECO:0000305}.				cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|defense response to bacterium (GO:0042742)|inflammatory response (GO:0006954)|negative regulation of angiogenesis (GO:0016525)|oxidation-reduction process (GO:0055114)|receptor-mediated endocytosis (GO:0006898)	endocytic vesicle membrane (GO:0030666)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	hyaluronic acid binding (GO:0005540)|low-density lipoprotein particle binding (GO:0030169)|low-density lipoprotein receptor activity (GO:0005041)|protein disulfide oxidoreductase activity (GO:0015035)|scavenger receptor activity (GO:0005044)			breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		TCAATGAAGGCTTTGTGGACA	0.562																																						ENST00000321725.6																			0				breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76						c.(7123-7125)ggC>ggA		stabilin 1							143	133	136					3																	52557342		2203	4300	6503	SO:0001819	synonymous_variant	23166				cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity	g.chr3:52557342C>A	AJ275213	CCDS33768.1	3p21.31	2008-07-18			ENSG00000010327	ENSG00000010327			18628	protein-coding gene	gene with protein product	"MS-1 antigen", "fasciclin egf-like, laminin-type egf-like, and link domain-containing scavenger receptor-1", "common lymphatic endothelial and vascular endothelial receptor-1"	608560				11829752, 12077138	Standard	XM_005264973		Approved	KIAA0246, STAB-1, FEEL-1, CLEVER-1, FELE-1, FEX1	uc003dej.3	Q9NY15	OTTHUMG00000158574	ENST00000321725.6:c.7125C>A	3.37:g.52557342C>A							p.G2375G	NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)	64	7201	+			2375			FAS1 7.		A7E297|Q8IUH0|Q8IUH1|Q93072	Silent	SNP	ENST00000321725.6	37	c.7125C>A	CCDS33768.1	.	.	.	.	.	.	.	.	.	.	C	5.491	0.275604	0.10403	.	.	ENSG00000010327	ENST00000469989	.	.	.	5.92	1.92	0.25849	.	.	.	.	.	T	0.56292	0.1975	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.48714	-0.9011	4	.	.	.	-20.2404	8.4075	0.32622	0.0:0.6667:0.1223:0.211	.	.	.	.	I	17	.	.	L	+	1	0	STAB1	52532382	0.989000	0.36119	0.984000	0.44739	0.694000	0.40290	0.063000	0.14410	0.433000	0.26313	-0.258000	0.10820	CTT		0.562	STAB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351380.2	NM_015136		32	65	1	0	2.42023e-17	1	2.66278e-17	32	65					A	52557342	C	A	52557342	2	1	435	1	0	0	0	0	0	0	0	1	15236	784	28	5		5	STAB1	3	52557342	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	986	52557342	145465088	1870	22795											
STAB1	23166	broad.mit.edu	37	chr3	52557678	52557678	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccctgcaggccccagggaCagttgtggttagccgtatca	7	9	12	13	1	1	0	1	0	0	0	2	1	2	1	4	3	2	4	4	3	2	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:52557678C>T	ENST00000321725.6	+	66	7377	c.7301C>T	c.(7300-7302)aCa>aTa	p.T2434I		NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN	stabilin 1	2434	FAS1 7. {ECO:0000255|PROSITE- ProRule:PRU00082, ECO:0000305}.				cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|defense response to bacterium (GO:0042742)|inflammatory response (GO:0006954)|negative regulation of angiogenesis (GO:0016525)|oxidation-reduction process (GO:0055114)|receptor-mediated endocytosis (GO:0006898)	endocytic vesicle membrane (GO:0030666)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	hyaluronic acid binding (GO:0005540)|low-density lipoprotein particle binding (GO:0030169)|low-density lipoprotein receptor activity (GO:0005041)|protein disulfide oxidoreductase activity (GO:0015035)|scavenger receptor activity (GO:0005044)			breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		GCCCCAGGGACAGTTGTGGTT	0.637																																						ENST00000321725.6																			0				breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76						c.(7300-7302)aCa>aTa		stabilin 1							74	71	72					3																	52557678		2202	4300	6502	SO:0001583	missense	23166				cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity	g.chr3:52557678C>T	AJ275213	CCDS33768.1	3p21.31	2008-07-18			ENSG00000010327	ENSG00000010327			18628	protein-coding gene	gene with protein product	"MS-1 antigen", "fasciclin egf-like, laminin-type egf-like, and link domain-containing scavenger receptor-1", "common lymphatic endothelial and vascular endothelial receptor-1"	608560				11829752, 12077138	Standard	XM_005264973		Approved	KIAA0246, STAB-1, FEEL-1, CLEVER-1, FELE-1, FEX1	uc003dej.3	Q9NY15	OTTHUMG00000158574	ENST00000321725.6:c.7301C>T	3.37:g.52557678C>T	ENSP00000312946:p.Thr2434Ile						p.T2434I	NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)	66	7377	+			2434			FAS1 7.		A7E297|Q8IUH0|Q8IUH1|Q93072	Missense_Mutation	SNP	ENST00000321725.6	37	c.7301C>T	CCDS33768.1	.	.	.	.	.	.	.	.	.	.	C	7.922	0.738883	0.15642	.	.	ENSG00000010327	ENST00000321725	D	0.84660	-1.88	5.79	5.79	0.91817	FAS1 domain (4);	0.709515	0.13551	N	0.379455	T	0.71592	0.3358	N	0.08118	0	0.09310	N	1	B;B	0.21905	0.059;0.062	B;B	0.15484	0.013;0.008	T	0.57051	-0.7877	10	0.23891	T	0.37	.	13.2054	0.59793	0.0:0.8405:0.1595:0.0	.	346;2434	B3KSK0;Q9NY15	.;STAB1_HUMAN	I	2434	ENSP00000312946:T2434I	ENSP00000312946:T2434I	T	+	2	0	STAB1	52532718	0.002000	0.14202	0.976000	0.42696	0.411000	0.31082	1.113000	0.31184	2.745000	0.94114	0.462000	0.41574	ACA		0.637	STAB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351380.2	NM_015136		7	16	0	0	0	1	0	7	16					T	52557678	C	T	52557678	3	4	435	1	0	0	0	0	1	0	0	0	15236	478	17	3	7563	3	STAB1	3	52557678	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	336	52557678	145464752	1871	22796											
PBRM1	55193	broad.mit.edu	37	chr3	52668639	52668639	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ggatctgttgtagtgatatgGgcattttaatttgctggtaa	9	17	12	3	0	1	1	0	1	1	0	1	2	1	2	0	3	1	5	0	3	4	7			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:52668639G>A	ENST00000296302.7	-	11	1281	c.1280C>T	c.(1279-1281)cCc>cTc	p.P427L	PBRM1_ENST00000409057.1_Missense_Mutation_p.P427L|PBRM1_ENST00000356770.4_Missense_Mutation_p.P395L|PBRM1_ENST00000337303.4_Missense_Mutation_p.P427L|PBRM1_ENST00000409767.1_Missense_Mutation_p.P427L|PBRM1_ENST00000410007.1_Missense_Mutation_p.P427L|PBRM1_ENST00000394830.3_Missense_Mutation_p.P427L|PBRM1_ENST00000409114.3_Missense_Mutation_p.P427L			Q86U86	PB1_HUMAN	polybromo 1	427	Bromo 3. {ECO:0000255|PROSITE- ProRule:PRU00035}.				chromatin remodeling (GO:0006338)|heart development (GO:0007507)|mitotic nuclear division (GO:0007067)|negative regulation of cell proliferation (GO:0008285)|placenta development (GO:0001890)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	kinetochore (GO:0000776)|nuclear chromosome (GO:0000228)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		TAGTGATATGGGCATTTTAAT	0.353			"Mis, N, F, S, D, O"		"clear cell renal carcinoma, breast"																																	ENST00000356770.4				Rec	yes		3	3p21	55193	"Mis, N, F, S, D, O"	polybromo 1			E			"clear cell renal carcinoma, breast"		0				breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335						c.(1183-1185)cCc>cTc		polybromo 1							163	184	177					3																	52668639		2203	4300	6503	SO:0001583	missense	55193				chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear chromosome	chromatin binding|DNA binding|protein binding	g.chr3:52668639G>A	BC015323	CCDS43099.1	3p21	2007-03-29			ENSG00000163939	ENSG00000163939			30064	protein-coding gene	gene with protein product		606083				11078522, 11483580	Standard	NM_018313		Approved	BAF180, PB1	uc003der.2	Q86U86	OTTHUMG00000152663	ENST00000296302.7:c.1280C>T	3.37:g.52668639G>A	ENSP00000296302:p.Pro427Leu					PBRM1_ENST00000409767.1_Missense_Mutation_p.P427L|PBRM1_ENST00000409057.1_Missense_Mutation_p.P427L|PBRM1_ENST00000394830.3_Missense_Mutation_p.P427L|PBRM1_ENST00000410007.1_Missense_Mutation_p.P427L|PBRM1_ENST00000409114.3_Missense_Mutation_p.P427L|PBRM1_ENST00000337303.4_Missense_Mutation_p.P427L|PBRM1_ENST00000296302.7_Missense_Mutation_p.P427L	p.P395L			Q86U86	PB1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	10	1186	-			427					A1L381|A1L382|A4FUJ7|Q1RMD1|Q1RMD2|Q96MS2|Q9H2T3|Q9H2T4|Q9H2T5|Q9H301|Q9H314	Missense_Mutation	SNP	ENST00000296302.7	37	c.1184C>T		.	.	.	.	.	.	.	.	.	.	G	27.8	4.861601	0.91433	.	.	ENSG00000163939	ENST00000356770;ENST00000394830;ENST00000296302;ENST00000337303;ENST00000409057;ENST00000410007;ENST00000409114;ENST00000409767;ENST00000423351;ENST00000446103	T;T;T;T;T;T;T;T;T;T	0.71341	-0.56;-0.56;-0.56;-0.56;-0.56;-0.56;-0.56;-0.56;-0.56;-0.56	5.59	5.59	0.84812	Bromodomain (5);Bromodomain, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.91663	0.7365	H	0.99074	4.42	0.80722	D	1	D;D;D;D;D;D;D;D;D	0.89917	0.999;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D	0.97110	0.998;1.0;0.999;1.0;0.999;1.0;1.0;1.0;1.0	D	0.94914	0.8067	10	0.87932	D	0	-1.3911	19.5707	0.95413	0.0:0.0:1.0:0.0	.	427;427;427;427;427;427;427;395;427	Q86U86-9;Q86U86-6;Q86U86-4;Q86U86-2;Q86U86-8;Q86U86-7;Q86U86;Q86U86-3;Q86U86-5	.;.;.;.;.;.;PB1_HUMAN;.;.	L	395;427;427;427;427;427;427;427;427;371	ENSP00000349213:P395L;ENSP00000378307:P427L;ENSP00000296302:P427L;ENSP00000338302:P427L;ENSP00000386593:P427L;ENSP00000386529:P427L;ENSP00000386643:P427L;ENSP00000386601:P427L;ENSP00000387775:P427L;ENSP00000397662:P371L	ENSP00000296302:P427L	P	-	2	0	PBRM1	52643679	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	9.397000	0.97276	2.630000	0.89119	0.491000	0.48974	CCC		0.353	PBRM1-008	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000327232.1	NM_018165		22	41	0	0	0	1	0	22	41					A	52668639	G	A	52668639	3	1	435	1	0	0	0	0	1	0	0	0	11491	1232	43	3	3700	3	PBRM1	3	52668639	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	110961	52668639	145353791	1872	22797											
PBRM1	55193	broad.mit.edu	37	chr3	52713679	52713679	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgcccatcatcaaagtcccCgctgacactgctggaagggg	9	7	12	13	1	2	1	2	1	0	0	3	2	3	2	3	3	2	2	3	3	2	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:52713679C>T	ENST00000296302.7	-	1	50	c.49G>A	c.(49-51)Ggg>Agg	p.G17R	PBRM1_ENST00000409057.1_Missense_Mutation_p.G17R|PBRM1_ENST00000356770.4_Missense_Mutation_p.G17R|PBRM1_ENST00000337303.4_Missense_Mutation_p.G17R|PBRM1_ENST00000409767.1_Missense_Mutation_p.G17R|PBRM1_ENST00000410007.1_Missense_Mutation_p.G17R|PBRM1_ENST00000394830.3_Missense_Mutation_p.G17R|PBRM1_ENST00000409114.3_Missense_Mutation_p.G17R			Q86U86	PB1_HUMAN	polybromo 1	17					chromatin remodeling (GO:0006338)|heart development (GO:0007507)|mitotic nuclear division (GO:0007067)|negative regulation of cell proliferation (GO:0008285)|placenta development (GO:0001890)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	kinetochore (GO:0000776)|nuclear chromosome (GO:0000228)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		TCAAAGTCCCCGCTGACACTG	0.448			"Mis, N, F, S, D, O"		"clear cell renal carcinoma, breast"																																	ENST00000356770.4				Rec	yes		3	3p21	55193	"Mis, N, F, S, D, O"	polybromo 1			E			"clear cell renal carcinoma, breast"		0				breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335						c.(49-51)Ggg>Agg		polybromo 1							105	96	99					3																	52713679		2203	4300	6503	SO:0001583	missense	55193				chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear chromosome	chromatin binding|DNA binding|protein binding	g.chr3:52713679C>T	BC015323	CCDS43099.1	3p21	2007-03-29			ENSG00000163939	ENSG00000163939			30064	protein-coding gene	gene with protein product		606083				11078522, 11483580	Standard	NM_018313		Approved	BAF180, PB1	uc003der.2	Q86U86	OTTHUMG00000152663	ENST00000296302.7:c.49G>A	3.37:g.52713679C>T	ENSP00000296302:p.Gly17Arg					PBRM1_ENST00000409767.1_Missense_Mutation_p.G17R|PBRM1_ENST00000409057.1_Missense_Mutation_p.G17R|PBRM1_ENST00000394830.3_Missense_Mutation_p.G17R|PBRM1_ENST00000410007.1_Missense_Mutation_p.G17R|PBRM1_ENST00000409114.3_Missense_Mutation_p.G17R|PBRM1_ENST00000337303.4_Missense_Mutation_p.G17R|PBRM1_ENST00000296302.7_Missense_Mutation_p.G17R	p.G17R			Q86U86	PB1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	1	51	-			17					A1L381|A1L382|A4FUJ7|Q1RMD1|Q1RMD2|Q96MS2|Q9H2T3|Q9H2T4|Q9H2T5|Q9H301|Q9H314	Missense_Mutation	SNP	ENST00000296302.7	37	c.49G>A		.	.	.	.	.	.	.	.	.	.	C	34	5.321552	0.95682	.	.	ENSG00000163939	ENST00000356770;ENST00000394830;ENST00000296302;ENST00000337303;ENST00000409057;ENST00000410007;ENST00000409114;ENST00000409767;ENST00000423351;ENST00000431678;ENST00000420148;ENST00000449505;ENST00000450271;ENST00000439181;ENST00000458294;ENST00000424867	T;T;T;T;T;T;T;T;T;T;T;T;T	0.49139	1.3;1.29;1.32;1.28;1.3;1.29;1.75;1.28;1.29;0.95;0.97;0.95;0.79	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	T	0.61937	0.2387	L	0.50333	1.59	0.58432	D	0.999994	D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;0.974;1.0;1.0	T	0.52419	-0.8578	10	0.08179	T	0.78	.	19.7082	0.96082	0.0:1.0:0.0:0.0	.	17;17;17;17;17;17;17;17	Q86U86-9;Q86U86-4;Q86U86-2;Q86U86-8;Q86U86-7;Q86U86;Q86U86-3;Q86U86-5	.;.;.;.;.;PB1_HUMAN;.;.	R	17	ENSP00000349213:G17R;ENSP00000378307:G17R;ENSP00000296302:G17R;ENSP00000338302:G17R;ENSP00000386593:G17R;ENSP00000386529:G17R;ENSP00000386643:G17R;ENSP00000386601:G17R;ENSP00000387775:G17R;ENSP00000409939:G17R;ENSP00000389390:G17R;ENSP00000412401:G17R;ENSP00000416851:G17R	ENSP00000296302:G17R	G	-	1	0	PBRM1	52688719	1.000000	0.71417	0.999000	0.59377	0.978000	0.69477	7.453000	0.80700	2.651000	0.90000	0.585000	0.79938	GGG		0.448	PBRM1-008	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000327232.1	NM_018165		8	35	0	0	0	1	0	8	35					T	52713679	C	T	52713679	3	4	435	1	0	0	0	0	1	0	0	0	11491	652	23	2	4971	2	PBRM1	3	52713679	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	45040	52713679	145308751	1873	22798											
NEK4	6787	broad.mit.edu	37	chr3	52771727	52771727	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cctgatcttttcagaacctgGcataatagctaaaaggcaac	14	10	7	10	0	2	2	1	1	1	1	2	2	2	2	2	2	3	3	2	2	6	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:52771727G>T	ENST00000233027.5	-	15	2510	c.2308C>A	c.(2308-2310)Cca>Aca	p.P770T	NEK4_ENST00000535191.1_Missense_Mutation_p.P681T|NEK4_ENST00000383721.4_Missense_Mutation_p.P724T	NM_001193533.1|NM_003157.4	NP_001180462.1|NP_003148.2	P51957	NEK4_HUMAN	NIMA-related kinase 4	770					mitotic nuclear division (GO:0007067)|protein phosphorylation (GO:0006468)	nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(10)	26				BRCA - Breast invasive adenocarcinoma(193;7.44e-05)|Kidney(197;0.000711)|KIRC - Kidney renal clear cell carcinoma(197;0.00086)|OV - Ovarian serous cystadenocarcinoma(275;0.0513)		TCAGAACCTGGCATAATAGCT	0.348																																						ENST00000233027.5																			0				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(10)	26						c.(2308-2310)Cca>Aca		NIMA-related kinase 4							84	80	82					3																	52771727		2203	4300	6503	SO:0001583	missense	6787				cell division|mitosis	nucleus	ATP binding|metal ion binding|protein serine/threonine kinase activity	g.chr3:52771727G>T	L20321	CCDS2863.1, CCDS54593.1	3p21.1	2012-11-15	2012-11-15	2002-05-10	ENSG00000114904	ENSG00000114904	2.7.11.1		11399	protein-coding gene	gene with protein product	"serine/threonine protein kinase-2"	601959	"serine/threonine kinase 2", "NIMA (never in mitosis gene a)-related kinase 4"	STK2		8208544	Standard	NM_001193533		Approved	NRK2, pp12301	uc003dfq.4	P51957	OTTHUMG00000158836	ENST00000233027.5:c.2308C>A	3.37:g.52771727G>T	ENSP00000233027:p.Pro770Thr					NEK4_ENST00000535191.1_Missense_Mutation_p.P681T|NEK4_ENST00000383721.4_Missense_Mutation_p.P724T	p.P770T	NM_001193533.1|NM_003157.4	NP_001180462.1|NP_003148.2	P51957	NEK4_HUMAN		BRCA - Breast invasive adenocarcinoma(193;7.44e-05)|Kidney(197;0.000711)|KIRC - Kidney renal clear cell carcinoma(197;0.00086)|OV - Ovarian serous cystadenocarcinoma(275;0.0513)	15	2510	-			770					A5YM70|B2R633|B7Z200|Q6P576	Missense_Mutation	SNP	ENST00000233027.5	37	c.2308C>A	CCDS2863.1	.	.	.	.	.	.	.	.	.	.	G	9.340	1.062866	0.19987	.	.	ENSG00000114904	ENST00000233027;ENST00000535191;ENST00000383721;ENST00000461689	T;T;T;T	0.72394	-0.51;-0.58;-0.48;-0.65	5.73	3.9	0.45041	.	0.315170	0.27720	N	0.018135	T	0.52549	0.1741	L	0.42245	1.32	0.47476	D	0.999439	B;P;B	0.35401	0.397;0.499;0.366	B;B;B	0.30251	0.113;0.102;0.077	T	0.49790	-0.8902	10	0.06625	T	0.88	.	8.3518	0.32307	0.2357:0.0:0.7643:0.0	.	681;724;770	B7Z200;P51957-2;P51957	.;.;NEK4_HUMAN	T	770;681;724;681	ENSP00000233027:P770T;ENSP00000437703:P681T;ENSP00000373227:P724T;ENSP00000419666:P681T	ENSP00000233027:P770T	P	-	1	0	NEK4	52746767	1.000000	0.71417	0.969000	0.41365	0.988000	0.76386	3.860000	0.55995	1.552000	0.49463	0.655000	0.94253	CCA		0.348	NEK4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000352386.2	NM_003157		15	30	1	0	2.23348e-06	1	2.32236e-06	15	30					T	52771727	G	T	52771727	3	4	435	1	0	0	0	0	1	0	0	0	10326	1203	42	5	225	5	NEK4	3	52771727	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	58048	52771727	145250703	1874	22799											
NEK4	6787	broad.mit.edu	37	chr3	52785948	52785948	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	catgtgtgcatatcactcacCtggtcctttggcttttgttc	5	17	8	11	0	2	0	2	0	0	0	4	0	3	0	2	2	1	3	2	2	1	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:52785948C>A	ENST00000233027.5	-	7	1570	c.1368G>T	c.(1366-1368)caG>caT	p.Q456H	NEK4_ENST00000535191.1_Splice_Site_p.Q367H|NEK4_ENST00000383721.4_Splice_Site_p.Q456H	NM_001193533.1|NM_003157.4	NP_001180462.1|NP_003148.2	P51957	NEK4_HUMAN	NIMA-related kinase 4	456			Q -> E (in dbSNP:rs56019351). {ECO:0000269|PubMed:17344846}.		mitotic nuclear division (GO:0007067)|protein phosphorylation (GO:0006468)	nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(10)	26				BRCA - Breast invasive adenocarcinoma(193;7.44e-05)|Kidney(197;0.000711)|KIRC - Kidney renal clear cell carcinoma(197;0.00086)|OV - Ovarian serous cystadenocarcinoma(275;0.0513)		TATCACTCACCTGGTCCTTTG	0.428																																						ENST00000233027.5																			0				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(10)	26						c.e7+1		NIMA-related kinase 4							110	111	111					3																	52785948		2203	4300	6503	SO:0001630	splice_region_variant	6787				cell division|mitosis	nucleus	ATP binding|metal ion binding|protein serine/threonine kinase activity	g.chr3:52785948C>A	L20321	CCDS2863.1, CCDS54593.1	3p21.1	2012-11-15	2012-11-15	2002-05-10	ENSG00000114904	ENSG00000114904	2.7.11.1		11399	protein-coding gene	gene with protein product	"serine/threonine protein kinase-2"	601959	"serine/threonine kinase 2", "NIMA (never in mitosis gene a)-related kinase 4"	STK2		8208544	Standard	NM_001193533		Approved	NRK2, pp12301	uc003dfq.4	P51957	OTTHUMG00000158836	ENST00000233027.5:c.1368+1G>T	3.37:g.52785948C>A						NEK4_ENST00000535191.1_Splice_Site_p.Q367_splice|NEK4_ENST00000383721.4_Splice_Site_p.Q456_splice	p.Q456_splice	NM_001193533.1|NM_003157.4	NP_001180462.1|NP_003148.2	P51957	NEK4_HUMAN		BRCA - Breast invasive adenocarcinoma(193;7.44e-05)|Kidney(197;0.000711)|KIRC - Kidney renal clear cell carcinoma(197;0.00086)|OV - Ovarian serous cystadenocarcinoma(275;0.0513)	7	1570	-			456		Q -> E (in dbSNP:rs56019351).			A5YM70|B2R633|B7Z200|Q6P576	Splice_Site	SNP	ENST00000233027.5	37	c.1368_splice	CCDS2863.1	.	.	.	.	.	.	.	.	.	.	C	16.36	3.100627	0.56183	.	.	ENSG00000114904	ENST00000233027;ENST00000535191;ENST00000383721;ENST00000461689	T;T;T;T	0.72835	2.5;2.5;-0.69;2.5	4.45	2.62	0.31277	.	1.030060	0.07732	N	0.945343	T	0.60894	0.2304	N	0.14661	0.345	0.23336	N	0.997881	P;D;P	0.54964	0.947;0.969;0.947	P;P;P	0.50970	0.453;0.655;0.453	T	0.49854	-0.8895	9	.	.	.	.	6.489	0.22105	0.1797:0.7259:0.0:0.0944	.	367;456;456	B7Z200;P51957-2;P51957	.;.;NEK4_HUMAN	H	456;367;456;367	ENSP00000233027:Q456H;ENSP00000437703:Q367H;ENSP00000373227:Q456H;ENSP00000419666:Q367H	.	Q	-	3	2	NEK4	52760988	0.994000	0.37717	0.998000	0.56505	0.954000	0.61252	1.681000	0.37618	0.605000	0.29947	0.655000	0.94253	CAG		0.428	NEK4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000352386.2	NM_003157	Missense_Mutation	39	93	1	0	7.04047e-22	1	7.82589e-22	39	93					A	52785948	C	A	52785948	5	1	435	1	0	0	0	0	0	0	1	0	10326	695	24	5	1197	5	NEK4	3	52785948	Splice_Site	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	14221	52785948	145236482	1875	22800											
ITIH3	3699	broad.mit.edu	37	chr3	52840398	52840398	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aagccccaggcacagtgctgCgccttattcaggatgcagtc	9	8	11	13	1	1	0	1	0	0	0	2	1	1	1	3	2	4	3	3	2	2	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:52840398C>T	ENST00000449956.2	+	18	2038	c.2032C>T	c.(2032-2034)Cgc>Tgc	p.R678C	ITIH3_ENST00000416872.2_Intron	NM_002217.3	NP_002208.3	Q06033	ITIH3_HUMAN	inter-alpha-trypsin inhibitor heavy chain 3	678					hyaluronan metabolic process (GO:0030212)|negative regulation of endopeptidase activity (GO:0010951)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(6)|ovary(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	25				BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496)		CACAGTGCTGCGCCTTATTCA	0.612																																						ENST00000449956.2																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(6)|ovary(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	25						c.(2032-2034)Cgc>Tgc		inter-alpha-trypsin inhibitor heavy chain 3							45	45	45					3																	52840398		1966	4141	6107	SO:0001583	missense	3699				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	g.chr3:52840398C>T		CCDS46845.1	3p21.1	2011-10-26	2011-10-26		ENSG00000162267	ENSG00000162267			6168	protein-coding gene	gene with protein product	"pre-alpha (globulin) inhibitor, H3 polypeptide", "inter-alpha-trypsin inhibitor heavy chain H3"	146650	"inter-alpha (globulin) inhibitor, H3 polypeptide", "inter-alpha (globulin) inhibitor H3"			2465147, 10100603	Standard	NM_002217		Approved	H3P	uc003dfv.2	Q06033	OTTHUMG00000158956	ENST00000449956.2:c.2032C>T	3.37:g.52840398C>T	ENSP00000415769:p.Arg678Cys					ITIH3_ENST00000416872.2_Intron	p.R678C	NM_002217.3	NP_002208.3	Q06033	ITIH3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496)	18	2038	+			678					Q3B7H5|Q53F06|Q6LAM2|Q99085	Missense_Mutation	SNP	ENST00000449956.2	37	c.2032C>T	CCDS46845.1	.	.	.	.	.	.	.	.	.	.	C	15.08	2.727264	0.48833	.	.	ENSG00000162267	ENST00000273291;ENST00000449956	T	0.01745	4.66	5.38	2.05	0.26809	.	0.337826	0.33496	N	0.004854	T	0.04907	0.0132	M	0.74881	2.28	0.40856	D	0.983796	D	0.54397	0.966	P	0.48677	0.586	T	0.38972	-0.9636	10	0.66056	D	0.02	-10.1344	12.7828	0.57487	0.6466:0.3534:0.0:0.0	.	678	Q06033	ITIH3_HUMAN	C	673;678	ENSP00000415769:R678C	ENSP00000273291:R673C	R	+	1	0	ITIH3	52815438	0.797000	0.28877	1.000000	0.80357	0.093000	0.18481	0.444000	0.21661	0.724000	0.32296	0.561000	0.74099	CGC		0.612	ITIH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352668.2	NM_002217		24	25	0	0	0	1	0	24	25					T	52840398	C	T	52840398	3	4	435	1	0	0	0	0	1	0	0	0	7905	768	27	1	2102	1	ITIH3	3	52840398	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	54450	52840398	145182032	1876	22801											
ITIH4	3700	broad.mit.edu	37	chr3	52850920	52850920	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccgggcatcactgagaatagCgtctccttccacttgtacgc	8	10	9	14	3	2	1	1	1	1	1	4	2	3	1	3	1	2	2	3	1	3	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:52850920C>T	ENST00000266041.4	-	21	2547	c.2451G>A	c.(2449-2451)acG>acA	p.T817T	RP5-966M1.6_ENST00000468472.1_3'UTR|ITIH4_ENST00000406595.1_Silent_p.T787T|ITIH4_ENST00000485816.1_Silent_p.T822T|ITIH4_ENST00000346281.5_Silent_p.T801T	NM_002218.4	NP_002209.2	Q14624	ITIH4_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 4	817				ET -> QR (in Ref. 8; AA sequence). {ECO:0000305}.	acute-phase response (GO:0006953)|hyaluronan metabolic process (GO:0030212)|negative regulation of endopeptidase activity (GO:0010951)|response to cytokine (GO:0034097)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496)		CTGAGAATAGCGTCTCCTTCC	0.587																																						ENST00000266041.4																			0				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	30						c.(2449-2451)acG>acA		inter-alpha-trypsin inhibitor heavy chain family, member 4							166	172	170					3																	52850920		2203	4300	6503	SO:0001819	synonymous_variant	3700				acute-phase response|hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	g.chr3:52850920C>T	D38535	CCDS2865.1, CCDS54596.1	3p21.1	2011-10-26	2011-10-26		ENSG00000055955	ENSG00000055955			6169	protein-coding gene	gene with protein product	"plasma Kallikrein-sensitive glycoprotein"	600564	"inter-alpha (globulin) inhibitor H4 (plasma Kallikrein-sensitive glycoprotein)"	ITIHL1		9480842, 7805892	Standard	NM_002218		Approved	IHRP, H4P	uc003dfz.3	Q14624	OTTHUMG00000159023	ENST00000266041.4:c.2451G>A	3.37:g.52850920C>T						ITIH4_ENST00000346281.5_Silent_p.T801T|ITIH4_ENST00000406595.1_Silent_p.T787T|ITIH4_ENST00000485816.1_Silent_p.T822T	p.T817T	NM_002218.4	NP_002209.2	Q14624	ITIH4_HUMAN		BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496)	21	2547	-			817	ET -> QR (in Ref. 5; AA sequence).				B7Z545|E9PGN5|Q15135|Q9P190|Q9UQ54	Silent	SNP	ENST00000266041.4	37	c.2451G>A	CCDS2865.1	.	.	.	.	.	.	.	.	.	.	C	7.576	0.667836	0.14710	.	.	ENSG00000055955	ENST00000441637	.	.	.	5.47	-10.9	0.00192	.	.	.	.	.	T	0.13200	0.0320	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.11060	-1.0603	4	.	.	.	-21.8597	0.9561	0.01386	0.1803:0.1949:0.2669:0.358	.	.	.	.	T	606	.	.	A	-	1	0	ITIH4	52825960	0.000000	0.05858	0.004000	0.12327	0.905000	0.53344	-5.465000	0.00120	-2.434000	0.00554	-0.258000	0.10820	GCT		0.587	ITIH4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317715.1	NM_002218		53	78	0	0	0	1	0	53	78					T	52850920	C	T	52850920	2	4	435	1	0	0	0	0	0	0	0	1	7906	755	27	1		1	ITIH4	3	52850920	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	10522	52850920	145171510	1877	22802											
TMEM110	375346	broad.mit.edu	37	chr3	52883814	52883814	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccacagcatattaccatattCgccgaagcgcagggactccc	11	7	8	15	3	0	0	0	0	0	0	2	2	1	1	4	1	3	2	4	1	4	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:52883814C>T	ENST00000355083.5	-	4	566	c.421G>A	c.(421-423)Gaa>Aaa	p.E141K	TMEM110-MUSTN1_ENST00000504329.1_Missense_Mutation_p.E141K	NM_198563.2	NP_940965.1	Q86TL2	TM110_HUMAN	transmembrane protein 110	141						integral component of membrane (GO:0016021)				kidney(1)|large_intestine(1)|lung(2)	4				BRCA - Breast invasive adenocarcinoma(193;7.72e-05)|Kidney(197;0.000777)|KIRC - Kidney renal clear cell carcinoma(197;0.000915)|OV - Ovarian serous cystadenocarcinoma(275;0.0541)		TTACCATATTCGCCGAAGCGC	0.627																																						ENST00000355083.5																			0				kidney(1)|large_intestine(1)|lung(2)	4						c.(421-423)Gaa>Aaa		transmembrane protein 110							52	46	48					3																	52883814		2203	4300	6503	SO:0001583	missense	375346							g.chr3:52883814C>T	BC047015	CCDS2866.1	3p21.1	2010-08-13			ENSG00000213533	ENSG00000213533			30526	protein-coding gene	gene with protein product						12477932	Standard	NM_198563		Approved	MGC52022		Q86TL2	OTTHUMG00000150346	ENST00000355083.5:c.421G>A	3.37:g.52883814C>T	ENSP00000347195:p.Glu141Lys					TMEM110-MUSTN1_ENST00000504329.1_Missense_Mutation_p.E141K	p.E141K	NM_198563.2	NP_940965.1				BRCA - Breast invasive adenocarcinoma(193;7.72e-05)|Kidney(197;0.000777)|KIRC - Kidney renal clear cell carcinoma(197;0.000915)|OV - Ovarian serous cystadenocarcinoma(275;0.0541)	4	566	-									Missense_Mutation	SNP	ENST00000355083.5	37	c.421G>A	CCDS2866.1	.	.	.	.	.	.	.	.	.	.	C	34	5.326542	0.95708	.	.	ENSG00000248592;ENSG00000213533	ENST00000504329;ENST00000355083	.	.	.	4.45	4.45	0.53987	.	0.000000	0.85682	U	0.000000	D	0.83179	0.5198	M	0.85299	2.745	0.80722	D	1	D;D	0.76494	0.992;0.999	P;D	0.79784	0.883;0.993	D	0.84752	0.0757	9	0.45353	T	0.12	-9.8555	17.6363	0.88123	0.0:1.0:0.0:0.0	.	141;141	Q86TL2;A8MSY1	TM110_HUMAN;.	K	141	.	ENSP00000347195:E141K	E	-	1	0	TMEM110-MUSTN1;TMEM110	52858854	1.000000	0.71417	1.000000	0.80357	0.802000	0.45316	7.583000	0.82559	2.461000	0.83175	0.561000	0.74099	GAA		0.627	TMEM110-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352949.2	NM_198563		5	9	0	0	0	1	0	5	9					T	52883814	C	T	52883814	3	4	435	1	0	0	0	0	1	0	0	0	16024	893	31	2	483	2	TMEM110	3	52883814	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	32894	52883814	145138616	1878	22803											
SFMBT1	51460	broad.mit.edu	37	chr3	52954553	52954553	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acccagaaatagacagatacCtcgtgctcggcgaggagtgc	12	6	12	11	3	0	3	0	0	0	3	2	5	0	4	2	2	3	1	2	2	3	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:52954553C>T	ENST00000394752.3	-	12	1754	c.1372G>A	c.(1372-1374)Gta>Ata	p.V458I	SFMBT1_ENST00000394750.1_Splice_Site_p.V458I|SFMBT1_ENST00000358080.2_Splice_Site_p.V458I|SFMBT1_ENST00000296295.6_Splice_Site_p.V458I	NM_016329.3	NP_057413.2	Q9UHJ3	SMBT1_HUMAN	Scm-like with four mbt domains 1	458					cell differentiation (GO:0030154)|chromatin modification (GO:0016568)|negative regulation of muscle organ development (GO:0048635)|negative regulation of transcription, DNA-templated (GO:0045892)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	histone binding (GO:0042393)|transcription corepressor activity (GO:0003714)			breast(2)|endometrium(3)|kidney(3)|large_intestine(8)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	24				BRCA - Breast invasive adenocarcinoma(193;9.91e-05)|Kidney(197;0.000644)|KIRC - Kidney renal clear cell carcinoma(197;0.000792)|OV - Ovarian serous cystadenocarcinoma(275;0.113)		AGACAGATACCTCGTGCTCGG	0.428																																						ENST00000394752.3																			0				breast(2)|endometrium(3)|kidney(3)|large_intestine(8)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	24						c.e12+1		Scm-like with four mbt domains 1							49	49	49					3																	52954553		2203	4300	6503	SO:0001630	splice_region_variant	51460				regulation of transcription, DNA-dependent	nucleus		g.chr3:52954553C>T	AF168132	CCDS2867.1	3p21.31	2013-01-10			ENSG00000163935	ENSG00000163935		"Sterile alpha motif (SAM) domain containing"	20255	protein-coding gene	gene with protein product		607319				10661410	Standard	NM_016329		Approved	RU1, DKFZp434L243, SFMBT	uc003dgh.3	Q9UHJ3	OTTHUMG00000159052	ENST00000394752.3:c.1372+1G>A	3.37:g.52954553C>T						SFMBT1_ENST00000296295.6_Splice_Site_p.V458_splice|SFMBT1_ENST00000394750.1_Splice_Site_p.V458_splice|SFMBT1_ENST00000358080.2_Splice_Site_p.V458_splice	p.V458_splice	NM_016329.3	NP_057413.2	Q9UHJ3	SMBT1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;9.91e-05)|Kidney(197;0.000644)|KIRC - Kidney renal clear cell carcinoma(197;0.000792)|OV - Ovarian serous cystadenocarcinoma(275;0.113)	12	1754	-			458					Q402F7|Q96C73|Q9Y4Q9	Splice_Site	SNP	ENST00000394752.3	37	c.1372_splice	CCDS2867.1	.	.	.	.	.	.	.	.	.	.	C	15.03	2.711329	0.48517	.	.	ENSG00000163935	ENST00000394752;ENST00000358080;ENST00000296295;ENST00000394750	T;T;T;T	0.30182	1.54;1.54;1.54;1.54	5.1	5.1	0.69264	.	0.206543	0.40640	N	0.001057	T	0.35885	0.0947	M	0.64997	1.995	0.53005	D	0.999963	B;B	0.15473	0.006;0.013	B;B	0.23716	0.016;0.048	T	0.10847	-1.0612	9	.	.	.	.	19.0691	0.93125	0.0:1.0:0.0:0.0	.	458;458	Q9UHJ3-2;Q9UHJ3	.;SMBT1_HUMAN	I	458	ENSP00000378235:V458I;ENSP00000350789:V458I;ENSP00000296295:V458I;ENSP00000378233:V458I	.	V	-	1	0	SFMBT1	52929593	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	4.614000	0.61183	2.822000	0.97130	0.650000	0.86243	GTA		0.428	SFMBT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353040.3	NM_016329	Missense_Mutation	5	10	0	0	0	1	0	5	10					T	52954553	C	T	52954553	5	4	435	1	0	0	0	0	0	0	1	0	14157	695	24	3	1268	3	SFMBT1	3	52954553	Splice_Site	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	70739	52954553	145067877	1879	22804											
SFMBT1	51460	broad.mit.edu	37	chr3	52960107	52960107	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtttgaggtagtcagcccaGtcaaagtcctggcttgggta	8	12	13	8	0	2	1	2	1	0	0	3	1	3	1	2	3	1	4	2	3	3	4	rs144071796		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:52960107G>A	ENST00000394752.3	-	10	1453	c.1071C>T	c.(1069-1071)gaC>gaT	p.D357D	SFMBT1_ENST00000394750.1_Silent_p.D357D|SFMBT1_ENST00000358080.2_Silent_p.D357D|SFMBT1_ENST00000296295.6_Silent_p.D357D	NM_016329.3	NP_057413.2	Q9UHJ3	SMBT1_HUMAN	Scm-like with four mbt domains 1	357					cell differentiation (GO:0030154)|chromatin modification (GO:0016568)|negative regulation of muscle organ development (GO:0048635)|negative regulation of transcription, DNA-templated (GO:0045892)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	histone binding (GO:0042393)|transcription corepressor activity (GO:0003714)			breast(2)|endometrium(3)|kidney(3)|large_intestine(8)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	24				BRCA - Breast invasive adenocarcinoma(193;9.91e-05)|Kidney(197;0.000644)|KIRC - Kidney renal clear cell carcinoma(197;0.000792)|OV - Ovarian serous cystadenocarcinoma(275;0.113)		AGTCAGCCCAGTCAAAGTCCT	0.592																																						ENST00000394752.3																			0				breast(2)|endometrium(3)|kidney(3)|large_intestine(8)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	24						c.(1069-1071)gaC>gaT		Scm-like with four mbt domains 1							162	139	147					3																	52960107		2203	4300	6503	SO:0001819	synonymous_variant	51460				regulation of transcription, DNA-dependent	nucleus		g.chr3:52960107G>A	AF168132	CCDS2867.1	3p21.31	2013-01-10			ENSG00000163935	ENSG00000163935		"Sterile alpha motif (SAM) domain containing"	20255	protein-coding gene	gene with protein product		607319				10661410	Standard	NM_016329		Approved	RU1, DKFZp434L243, SFMBT	uc003dgh.3	Q9UHJ3	OTTHUMG00000159052	ENST00000394752.3:c.1071C>T	3.37:g.52960107G>A						SFMBT1_ENST00000296295.6_Silent_p.D357D|SFMBT1_ENST00000394750.1_Silent_p.D357D|SFMBT1_ENST00000358080.2_Silent_p.D357D	p.D357D	NM_016329.3	NP_057413.2	Q9UHJ3	SMBT1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;9.91e-05)|Kidney(197;0.000644)|KIRC - Kidney renal clear cell carcinoma(197;0.000792)|OV - Ovarian serous cystadenocarcinoma(275;0.113)	10	1453	-			357					Q402F7|Q96C73|Q9Y4Q9	Silent	SNP	ENST00000394752.3	37	c.1071C>T	CCDS2867.1																																																																																				0.592	SFMBT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353040.3	NM_016329		24	59	0	0	0	1	0	24	59					A	52960107	G	A	52960107	2	1	435	1	0	0	0	0	0	0	0	1	14157	1020	36	3		3	SFMBT1	3	52960107	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	5554	52960107	145062323	1880	22805											
TKT	7086	broad.mit.edu	37	chr3	53274270	53274270	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gggagtaggtgtgttacctgGccttgtcgaagtatttgccg	6	13	15	7	2	0	0	0	0	0	0	1	2	0	1	3	3	2	3	3	3	4	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:53274270G>A	ENST00000462138.1	-	4	522	c.434C>T	c.(433-435)gCc>gTc	p.A145V	TKT_ENST00000423516.1_Missense_Mutation_p.A145V|TKT_ENST00000423525.2_Missense_Mutation_p.A145V|TKT_ENST00000296289.6_Missense_Mutation_p.A98V			P29401	TKT_HUMAN	transketolase	145					carbohydrate metabolic process (GO:0005975)|energy reserve metabolic process (GO:0006112)|glyceraldehyde-3-phosphate biosynthetic process (GO:0046166)|pentose-phosphate shunt (GO:0006098)|pentose-phosphate shunt, non-oxidative branch (GO:0009052)|regulation of growth (GO:0040008)|small molecule metabolic process (GO:0044281)|xylulose biosynthetic process (GO:0005999)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|peroxisome (GO:0005777)|vesicle (GO:0031982)	cofactor binding (GO:0048037)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|transketolase activity (GO:0004802)			endometrium(5)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	17		Prostate(884;0.0959)		BRCA - Breast invasive adenocarcinoma(193;0.000159)|OV - Ovarian serous cystadenocarcinoma(275;0.000314)|Kidney(197;0.00178)|KIRC - Kidney renal clear cell carcinoma(197;0.00201)		GTGTTACCTGGCCTTGTCGAA	0.607																																					Colon(133;1506 2347 35238 42177)	ENST00000462138.1																			0				endometrium(5)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	17						c.(433-435)gCc>gTc		transketolase	Thiamine(DB00152)						93	85	88					3																	53274270		2203	4300	6503	SO:0001583	missense	7086				energy reserve metabolic process|xylulose biosynthetic process	cytosol	protein binding|transketolase activity	g.chr3:53274270G>A		CCDS2871.1, CCDS58834.1	3p14.3	2008-07-31	2008-07-31		ENSG00000163931	ENSG00000163931	2.2.1.1		11834	protein-coding gene	gene with protein product	"Wernicke-Korsakoff syndrome"	606781				1567394	Standard	NM_001064		Approved		uc011beq.2	P29401	OTTHUMG00000158192	ENST00000462138.1:c.434C>T	3.37:g.53274270G>A	ENSP00000417773:p.Ala145Val					TKT_ENST00000423525.2_Missense_Mutation_p.A145V|TKT_ENST00000423516.1_Missense_Mutation_p.A145V|TKT_ENST00000296289.6_Missense_Mutation_p.A98V	p.A145V			P29401	TKT_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000159)|OV - Ovarian serous cystadenocarcinoma(275;0.000314)|Kidney(197;0.00178)|KIRC - Kidney renal clear cell carcinoma(197;0.00201)	4	522	-		Prostate(884;0.0959)	145					A8K089|B4DE31|E7EPA7|Q8TBA3|Q96HH3	Missense_Mutation	SNP	ENST00000462138.1	37	c.434C>T	CCDS2871.1	.	.	.	.	.	.	.	.	.	.	G	16.50	3.140123	0.56936	.	.	ENSG00000163931	ENST00000462138;ENST00000423525;ENST00000423516;ENST00000296289	T;T;T;T	0.27104	1.69;1.69;2.02;1.69	5.83	5.83	0.93111	Transketolase, N-terminal (1);	0.048173	0.85682	D	0.000000	T	0.33876	0.0878	N	0.12443	0.215	0.80722	D	1	D;D;D	0.69078	0.965;0.996;0.997	P;D;D	0.69824	0.651;0.966;0.933	T	0.14727	-1.0462	10	0.23302	T	0.38	-21.3914	20.1184	0.97949	0.0:0.0:1.0:0.0	.	145;62;145	E7EPA7;B3KSI4;P29401	.;.;TKT_HUMAN	V	145;145;145;98	ENSP00000417773:A145V;ENSP00000405455:A145V;ENSP00000391481:A145V;ENSP00000296289:A98V	ENSP00000296289:A98V	A	-	2	0	TKT	53249310	1.000000	0.71417	1.000000	0.80357	0.252000	0.25951	9.869000	0.99810	2.769000	0.95229	0.655000	0.94253	GCC		0.607	TKT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350356.1			5	54	0	0	0	1	0	5	54					A	53274270	G	A	53274270	3	1	435	1	0	0	0	0	1	0	0	0	15931	1203	42	3	1481	3	TKT	3	53274270	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	314163	53274270	144748160	1881	22806											
DCP1A	55802	broad.mit.edu	37	chr3	53338246	53338246	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggcatttcttctagagtctcGgtgcttcccagattggagag	7	13	12	9	1	3	3	0	0	3	3	5	4	4	3	1	3	1	2	1	3	1	5	rs577560273		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:53338246G>A	ENST00000607628.1	-	6	694	c.585C>T	c.(583-585)acC>acT	p.T195T	DCP1A_ENST00000606822.1_Intron|DCP1A_ENST00000294241.6_Silent_p.T195T|DCP1A_ENST00000480258.1_5'UTR	NM_018403.5	NP_060873.4	Q9NPI6	DCP1A_HUMAN	decapping mRNA 1A	195					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	hydrolase activity (GO:0016787)|identical protein binding (GO:0042802)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	10				BRCA - Breast invasive adenocarcinoma(193;0.000164)|KIRC - Kidney renal clear cell carcinoma(197;0.00525)|Kidney(197;0.00579)|OV - Ovarian serous cystadenocarcinoma(275;0.0647)		CTAGAGTCTCGGTGCTTCCCA	0.418																																						ENST00000607628.1																			0				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	10						c.(583-585)acC>acT		decapping mRNA 1A							96	92	94					3																	53338246		1860	4105	5965	SO:0001819	synonymous_variant	55802				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytoplasmic mRNA processing body|cytosol|nucleus	hydrolase activity|protein binding	g.chr3:53338246G>A	AJ275986	CCDS74946.1	3p21.1	2013-05-02	2013-05-02		ENSG00000162290	ENSG00000272886			18714	protein-coding gene	gene with protein product		607010	"DCP1 decapping enzyme homolog A (S. cerevisiae)"				Standard	XM_005278360		Approved	HSA275986, SMIF, SMAD4IP1	uc021wzi.1	Q9NPI6	OTTHUMG00000158193	ENST00000607628.1:c.585C>T	3.37:g.53338246G>A						DCP1A_ENST00000606822.1_Intron|DCP1A_ENST00000294241.6_Silent_p.T195T|DCP1A_ENST00000480258.1_5'UTR	p.T195T	NM_018403.5	NP_060873.4	Q9NPI6	DCP1A_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000164)|KIRC - Kidney renal clear cell carcinoma(197;0.00525)|Kidney(197;0.00579)|OV - Ovarian serous cystadenocarcinoma(275;0.0647)	6	694	-			195					B4DHN9|U3KQM8	Silent	SNP	ENST00000607628.1	37	c.585C>T																																																																																					0.418	DCP1A-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_018403		18	32	0	0	0	1	0	18	32					A	53338246	G	A	53338246	2	1	435	1	0	0	0	0	0	0	0	1	4298	1103	39	2		2	DCP1A	3	53338246	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	63976	53338246	144684184	1882	22807											
CHDH	55349	broad.mit.edu	37	chr3	53853045	53853045	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tgagccagcccacactcgtgCcccgcatgggccccacatgt	7	6	10	18	2	0	1	0	1	0	0	1	1	0	1	6	1	3	1	6	1	0	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:53853045C>T	ENST00000315251.6	-	8	1723	c.1286G>A	c.(1285-1287)gGc>gAc	p.G429D		NM_018397.4	NP_060867.2	Q8NE62	CHDH_HUMAN	choline dehydrogenase	429					glycine betaine biosynthetic process from choline (GO:0019285)	mitochondrial inner membrane (GO:0005743)	choline dehydrogenase activity (GO:0008812)|flavin adenine dinucleotide binding (GO:0050660)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)	17		Hepatocellular(537;0.152)		BRCA - Breast invasive adenocarcinoma(193;0.000158)|KIRC - Kidney renal clear cell carcinoma(284;0.00588)|Kidney(284;0.00673)|OV - Ovarian serous cystadenocarcinoma(275;0.118)	Choline(DB00122)	CACACTCGTGCCCCGCATGGG	0.552																																						ENST00000315251.5																			0				NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)	17						c.(1285-1287)gGc>gAc		choline dehydrogenase	Choline(DB00122)						150	127	135					3																	53853045		2203	4300	6503	SO:0001583	missense	55349				alcohol metabolic process		choline dehydrogenase activity|flavin adenine dinucleotide binding	g.chr3:53853045C>T	AJ272267	CCDS2873.1	3p21	2004-11-24			ENSG00000016391	ENSG00000016391	1.1.99.1		24288	protein-coding gene	gene with protein product							Standard	NM_018397		Approved		uc003dgz.3	Q8NE62	OTTHUMG00000158281	ENST00000315251.6:c.1286G>A	3.37:g.53853045C>T	ENSP00000319851:p.Gly429Asp						p.G429D	NM_018397.4	NP_060867.2	Q8NE62	CHDH_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000158)|KIRC - Kidney renal clear cell carcinoma(284;0.00588)|Kidney(284;0.00673)|OV - Ovarian serous cystadenocarcinoma(275;0.118)	8	1723	-		Hepatocellular(537;0.152)	429					Q9NY17	Missense_Mutation	SNP	ENST00000315251.6	37	c.1286G>A	CCDS2873.1	.	.	.	.	.	.	.	.	.	.	C	16.52	3.145734	0.57044	.	.	ENSG00000016391	ENST00000315251	T	0.41400	1.0	5.78	3.88	0.44766	.	0.217827	0.46145	D	0.000320	T	0.28300	0.0699	N	0.04508	-0.205	0.28916	N	0.892405	B	0.27765	0.188	B	0.34590	0.186	T	0.31943	-0.9925	10	0.72032	D	0.01	-18.2343	16.2447	0.82436	0.0:0.5331:0.4669:0.0	.	429	Q8NE62	CHDH_HUMAN	D	429	ENSP00000319851:G429D	ENSP00000319851:G429D	G	-	2	0	CHDH	53828085	1.000000	0.71417	1.000000	0.80357	0.906000	0.53458	1.343000	0.33930	0.654000	0.30846	0.563000	0.77884	GGC		0.552	CHDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350567.2	NM_018397		18	37	0	0	0	1	0	18	37					T	53853045	C	T	53853045	3	4	435	1	0	0	0	0	1	0	0	0	3333	739	26	3	506	3	CHDH	3	53853045	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	514799	53853045	144169385	1883	22808											
CHDH	55349	broad.mit.edu	37	chr3	53856558	53856558	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgacatactccacgcccactGcacgggtgccctcaaatagc	10	7	8	16	2	1	1	1	1	0	0	2	1	2	1	3	1	4	1	3	1	3	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:53856558G>A	ENST00000315251.6	-	4	1252	c.815C>T	c.(814-816)gCa>gTa	p.A272V		NM_018397.4	NP_060867.2	Q8NE62	CHDH_HUMAN	choline dehydrogenase	272					glycine betaine biosynthetic process from choline (GO:0019285)	mitochondrial inner membrane (GO:0005743)	choline dehydrogenase activity (GO:0008812)|flavin adenine dinucleotide binding (GO:0050660)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)	17		Hepatocellular(537;0.152)		BRCA - Breast invasive adenocarcinoma(193;0.000158)|KIRC - Kidney renal clear cell carcinoma(284;0.00588)|Kidney(284;0.00673)|OV - Ovarian serous cystadenocarcinoma(275;0.118)	Choline(DB00122)	CACGCCCACTGCACGGGTGCC	0.642																																						ENST00000315251.5																			0				NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)	17						c.(814-816)gCa>gTa		choline dehydrogenase	Choline(DB00122)						125	100	108					3																	53856558		2203	4300	6503	SO:0001583	missense	55349				alcohol metabolic process		choline dehydrogenase activity|flavin adenine dinucleotide binding	g.chr3:53856558G>A	AJ272267	CCDS2873.1	3p21	2004-11-24			ENSG00000016391	ENSG00000016391	1.1.99.1		24288	protein-coding gene	gene with protein product							Standard	NM_018397		Approved		uc003dgz.3	Q8NE62	OTTHUMG00000158281	ENST00000315251.6:c.815C>T	3.37:g.53856558G>A	ENSP00000319851:p.Ala272Val						p.A272V	NM_018397.4	NP_060867.2	Q8NE62	CHDH_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000158)|KIRC - Kidney renal clear cell carcinoma(284;0.00588)|Kidney(284;0.00673)|OV - Ovarian serous cystadenocarcinoma(275;0.118)	4	1252	-		Hepatocellular(537;0.152)	272					Q9NY17	Missense_Mutation	SNP	ENST00000315251.6	37	c.815C>T	CCDS2873.1	.	.	.	.	.	.	.	.	.	.	G	25.7	4.668130	0.88348	.	.	ENSG00000016391	ENST00000315251	T	0.62941	-0.01	5.25	5.25	0.73442	Glucose-methanol-choline oxidoreductase, N-terminal (1);	0.120682	0.56097	D	0.000035	T	0.73458	0.3589	L	0.60067	1.865	0.80722	D	1	P	0.40534	0.72	P	0.53401	0.725	T	0.74740	-0.3563	10	0.72032	D	0.01	-13.9802	18.6399	0.91392	0.0:0.0:1.0:0.0	.	272	Q8NE62	CHDH_HUMAN	V	272	ENSP00000319851:A272V	ENSP00000319851:A272V	A	-	2	0	CHDH	53831598	1.000000	0.71417	0.971000	0.41717	0.498000	0.33706	5.692000	0.68256	2.749000	0.94314	0.655000	0.94253	GCA		0.642	CHDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350567.2	NM_018397		15	18	0	0	0	1	0	15	18					A	53856558	G	A	53856558	3	1	435	1	0	0	0	0	1	0	0	0	3333	1319	46	3	993	3	CHDH	3	53856558	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	3513	53856558	144165872	1884	22809											
CACNA2D3	55799	broad.mit.edu	37	chr3	55038847	55038847	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacaaggaaagcagcgatggCgcccatggcctcctggatgt	11	6	13	11	2	0	0	0	0	0	0	1	3	1	2	3	4	3	1	3	4	3	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:55038847C>T	ENST00000474759.1	+	32	2796	c.2748C>T	c.(2746-2748)ggC>ggT	p.G916G	CACNA2D3_ENST00000490478.1_Silent_p.G822G|CACNA2D3_ENST00000478261.1_3'UTR|CACNA2D3_ENST00000288197.5_Silent_p.G916G|CACNA2D3_ENST00000415676.2_Silent_p.G916G	NM_018398.2	NP_060868.2	Q8IZS8	CA2D3_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 3	916						integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3)	59				KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)	Amlodipine(DB00381)|Nilvadipine(DB06712)|Spironolactone(DB00421)	GCAGCGATGGCGCCCATGGCC	0.453																																						ENST00000474759.1																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3)	59						c.(2746-2748)ggC>ggT		calcium channel, voltage-dependent, alpha 2/delta subunit 3							115	111	112					3																	55038847		1956	4149	6105	SO:0001819	synonymous_variant	55799					integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity	g.chr3:55038847C>T	AJ272268	CCDS54598.1	3p21.1	2010-10-05	2008-02-26		ENSG00000157445	ENSG00000157445		"Calcium channel subunits"	15460	protein-coding gene	gene with protein product		606399				11245980	Standard	XM_005265318		Approved	HSA272268	uc003dhf.3	Q8IZS8	OTTHUMG00000158580	ENST00000474759.1:c.2748C>T	3.37:g.55038847C>T						CACNA2D3_ENST00000288197.5_Silent_p.G916G|CACNA2D3_ENST00000415676.2_Silent_p.G916G|CACNA2D3_ENST00000478261.1_3'UTR|CACNA2D3_ENST00000490478.1_Silent_p.G822G	p.G916G	NM_018398.2	NP_060868.2	Q8IZS8	CA2D3_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)	32	2796	+			916					B2RPL6|Q9NY16|Q9NY18	Silent	SNP	ENST00000474759.1	37	c.2748C>T	CCDS54598.1																																																																																				0.453	CACNA2D3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351402.1			22	22	0	0	0	1	0	22	22					T	55038847	C	T	55038847	2	4	435	1	0	0	0	0	0	0	0	1	2550	755	27	1		1	CACNA2D3	3	55038847	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	1182289	55038847	142983583	1885	22810											
WNT5A	7474	broad.mit.edu	37	chr3	55504240	55504240	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ttgaactggtcgtagccacgGccgcagcacatgagctcgca	9	7	12	13	4	0	2	0	2	0	0	2	2	0	2	2	2	4	5	2	2	2	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:55504240G>A	ENST00000474267.1	-	6	1544	c.1023C>T	c.(1021-1023)ggC>ggT	p.G341G	WNT5A_ENST00000493406.1_5'Flank|WNT5A_ENST00000497027.1_Silent_p.G326G|WNT5A_ENST00000264634.4_Silent_p.G341G			P41221	WNT5A_HUMAN	wingless-type MMTV integration site family, member 5A	341					activation of JUN kinase activity (GO:0007257)|activation of MAPK activity (GO:0000187)|activation of protein kinase B activity (GO:0032148)|ameboidal cell migration (GO:0001667)|anterior/posterior axis specification, embryo (GO:0008595)|axon guidance (GO:0007411)|canonical Wnt signaling pathway (GO:0060070)|cartilage development (GO:0051216)|cell fate commitment (GO:0045165)|cellular protein localization (GO:0034613)|cellular response to calcium ion (GO:0071277)|cellular response to interferon-gamma (GO:0071346)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to retinoic acid (GO:0071300)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cervix development (GO:0060067)|cochlea morphogenesis (GO:0090103)|convergent extension involved in organogenesis (GO:0060029)|dopaminergic neuron differentiation (GO:0071542)|embryonic digit morphogenesis (GO:0042733)|embryonic skeletal system development (GO:0048706)|epithelial cell proliferation involved in mammary gland duct elongation (GO:0060750)|epithelial to mesenchymal transition (GO:0001837)|establishment of planar polarity (GO:0001736)|face development (GO:0060324)|genitalia development (GO:0048806)|heart looping (GO:0001947)|hematopoietic stem cell proliferation (GO:0071425)|hindgut morphogenesis (GO:0007442)|hypophysis morphogenesis (GO:0048850)|keratinocyte differentiation (GO:0030216)|lateral sprouting involved in mammary gland duct morphogenesis (GO:0060599)|lens development in camera-type eye (GO:0002088)|lung development (GO:0030324)|male gonad development (GO:0008584)|mammary gland branching involved in thelarche (GO:0060744)|mesenchymal-epithelial cell signaling (GO:0060638)|midgut development (GO:0007494)|negative chemotaxis (GO:0050919)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|negative regulation of mesenchymal cell proliferation (GO:0072201)|negative regulation of prostatic bud formation (GO:0060686)|negative regulation of synapse assembly (GO:0051964)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|neuron differentiation (GO:0030182)|non-canonical Wnt signaling pathway via JNK cascade (GO:0038031)|olfactory bulb interneuron development (GO:0021891)|optic cup formation involved in camera-type eye development (GO:0003408)|palate development (GO:0060021)|planar cell polarity pathway involved in cardiac muscle tissue morphogenesis (GO:0061350)|planar cell polarity pathway involved in cardiac right atrium morphogenesis (GO:0061349)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|planar cell polarity pathway involved in outflow tract morphogenesis (GO:0061347)|planar cell polarity pathway involved in pericardium morphogenesis (GO:0061354)|planar cell polarity pathway involved in ventricular septum morphogenesis (GO:0061348)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cartilage development (GO:0061036)|positive regulation of cell-cell adhesion mediated by cadherin (GO:2000049)|positive regulation of cGMP metabolic process (GO:0030825)|positive regulation of chemokine biosynthetic process (GO:0045080)|positive regulation of cytokine secretion involved in immune response (GO:0002741)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 secretion (GO:2000484)|positive regulation of JNK cascade (GO:0046330)|positive regulation of macrophage activation (GO:0043032)|positive regulation of macrophage cytokine production (GO:0060907)|positive regulation of meiosis (GO:0045836)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of neuron projection development (GO:0010976)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of ossification (GO:0045778)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein kinase C signaling (GO:0090037)|positive regulation of response to cytokine stimulus (GO:0060760)|positive regulation of T cell chemotaxis (GO:0010820)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340)|post-anal tail morphogenesis (GO:0036342)|primitive streak formation (GO:0090009)|protein phosphorylation (GO:0006468)|regulation of branching involved in mammary gland duct morphogenesis (GO:0060762)|response to organic substance (GO:0010033)|somitogenesis (GO:0001756)|type B pancreatic cell development (GO:0003323)|urinary bladder development (GO:0060157)|uterus development (GO:0060065)|vagina development (GO:0060068)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway, calcium modulating pathway (GO:0007223)|wound healing (GO:0042060)	cell surface (GO:0009986)|clathrin-coated endocytic vesicle membrane (GO:0030669)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)|receptor agonist activity (GO:0048018)|receptor tyrosine kinase-like orphan receptor binding (GO:0005115)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|endometrium(1)|large_intestine(4)|lung(3)|prostate(2)|urinary_tract(1)	13				KIRC - Kidney renal clear cell carcinoma(284;0.00377)|Kidney(284;0.00408)|OV - Ovarian serous cystadenocarcinoma(275;0.204)		CGTAGCCACGGCCGCAGCACA	0.632																																						ENST00000474267.1																			0				breast(2)|endometrium(1)|large_intestine(4)|lung(3)|prostate(2)|urinary_tract(1)	13						c.(1021-1023)ggC>ggT		wingless-type MMTV integration site family, member 5A							76	81	80					3																	55504240		2203	4300	6503	SO:0001819	synonymous_variant	7474				activation of JUN kinase activity|activation of protein kinase B activity|axon guidance|cartilage development|cellular protein localization|cellular response to calcium ion|cellular response to interferon-gamma|cellular response to lipopolysaccharide|cellular response to retinoic acid|cellular response to transforming growth factor beta stimulus|cervix development|cochlea morphogenesis|convergent extension involved in organogenesis|dopaminergic neuron differentiation|dorsal/ventral axis specification|embryonic digit morphogenesis|embryonic skeletal system development|epithelial cell proliferation involved in mammary gland duct elongation|epithelial to mesenchymal transition|face development|genitalia development|heart looping|hemopoietic stem cell proliferation|keratinocyte differentiation|lateral sprouting involved in mammary gland duct morphogenesis|lens development in camera-type eye|male gonad development|mammary gland branching involved in thelarche|negative regulation of apoptosis|negative regulation of BMP signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of fat cell differentiation|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of mesenchymal cell proliferation|negative regulation of transcription, DNA-dependent|neural tube closure|olfactory bulb interneuron development|optic cup formation involved in camera-type eye development|palate development|positive regulation of angiogenesis|positive regulation of cartilage development|positive regulation of cGMP metabolic process|positive regulation of chemokine biosynthetic process|positive regulation of cytokine secretion involved in immune response|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of fibroblast proliferation|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-6 production|positive regulation of JNK cascade|positive regulation of macrophage activation|positive regulation of macrophage cytokine production|positive regulation of mesenchymal cell proliferation|positive regulation of neuron projection development|positive regulation of NF-kappaB transcription factor activity|positive regulation of ossification|positive regulation of protein catabolic process|positive regulation of protein kinase C signaling cascade|positive regulation of T cell chemotaxis|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|primitive streak formation|regulation of branching involved in mammary gland duct morphogenesis|somitogenesis|tail morphogenesis|type B pancreatic cell development|urinary bladder development|uterus development|vagina development|Wnt receptor signaling pathway, calcium modulating pathway|wound healing	extracellular space|membrane fraction|plasma membrane|proteinaceous extracellular matrix	frizzled binding|frizzled-2 binding|receptor tyrosine kinase-like orphan receptor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	g.chr3:55504240G>A	L20861	CCDS46850.1, CCDS58835.1	3p21-p14	2013-02-28			ENSG00000114251	ENSG00000114251		"Wingless-type MMTV integration sites", "Endogenous ligands"	12784	protein-coding gene	gene with protein product	"WNT-5A protein"	164975				8288227	Standard	NM_001256105		Approved	hWNT5A	uc010hmw.4	P41221	OTTHUMG00000158361	ENST00000474267.1:c.1023C>T	3.37:g.55504240G>A						WNT5A_ENST00000497027.1_Silent_p.G326G|WNT5A_ENST00000264634.4_Silent_p.G341G	p.G341G			P41221	WNT5A_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.00377)|Kidney(284;0.00408)|OV - Ovarian serous cystadenocarcinoma(275;0.204)	6	1544	-			341					A8K4A4|Q6P278	Silent	SNP	ENST00000474267.1	37	c.1023C>T	CCDS46850.1	.	.	.	.	.	.	.	.	.	.	G	10.28	1.306819	0.23821	.	.	ENSG00000114251	ENST00000442038	.	.	.	5.67	2.8	0.32819	.	.	.	.	.	T	0.70098	0.3185	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.69859	-0.5031	5	0.87932	D	0	.	10.3656	0.44021	0.0699:0.3993:0.5308:0.0	.	.	.	.	S	74	.	ENSP00000395272:P74S	P	-	1	0	WNT5A	55479280	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	2.178000	0.42519	0.292000	0.22492	0.655000	0.94253	CCG		0.632	WNT5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350793.3	NM_003392		32	50	0	0	0	1	0	32	50					A	55504240	G	A	55504240	2	1	435	1	0	0	0	0	0	0	0	1	17388	1190	42	3		3	WNT5A	3	55504240	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	465393	55504240	142518190	1886	22811											
ERC2	26059	broad.mit.edu	37	chr3	55922477	55922477	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tccggaggttggccaagtgcGcttctttttcggccagggac	5	11	14	11	3	1	0	0	0	1	0	3	2	2	2	3	5	1	2	3	5	1	4	rs138285241	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:55922477G>A	ENST00000288221.6	-	14	2759	c.2504C>T	c.(2503-2505)gCg>gTg	p.A835V		NM_015576.1	NP_056391.1	O15083	ERC2_HUMAN	ELKS/RAB6-interacting/CAST family member 2	835						cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|growth cone (GO:0030426)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)		p.A835V(1)		breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1)	31				KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)		GGCCAAGTGCGCTTCTTTTTC	0.532													G|||	2	0.000399361	0	0.0014	5008	,	,		17442	0		0.001	False		,,,				2504	0					ENST00000288221.6																			1	Substitution - Missense(1)	p.A835V(1)	large_intestine(1)	breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1)	31						c.(2503-2505)gCg>gTg		ELKS/RAB6-interacting/CAST family member 2							191	197	195					3																	55922477		2045	4196	6241	SO:0001583	missense	26059					cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome	protein binding	g.chr3:55922477G>A	AB002376	CCDS46851.1	3p14.3	2006-08-14			ENSG00000187672	ENSG00000187672			31922	protein-coding gene	gene with protein product							Standard	NM_015576		Approved	CAST, CAST1, KIAA0378, SPBC110, Spc110, ELKSL	uc003dhr.1	O15083	OTTHUMG00000158390	ENST00000288221.6:c.2504C>T	3.37:g.55922477G>A	ENSP00000288221:p.Ala835Val						p.A835V	NM_015576.1	NP_056391.1	O15083	ERC2_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)	14	2759	-			835					Q2T9F6|Q86TK4	Missense_Mutation	SNP	ENST00000288221.6	37	c.2504C>T	CCDS46851.1	2|2	9.157509157509158E-4|9.157509157509158E-4	0|0	0.0|0.0	1|1	0.0027624309392265192|0.0027624309392265192	0|0	0.0|0.0	1|1	0.0013192612137203166|0.0013192612137203166	G|G	13.37|13.37	2.216844|2.216844	0.39201|0.39201	.|.	.|.	ENSG00000187672|ENSG00000187672	ENST00000288221|ENST00000492584	T|.	0.46451|.	0.87|.	5.79|5.79	5.79|5.79	0.91817|0.91817	.|.	0.349677|.	0.30602|.	N|.	0.009276|.	T|T	0.48502|0.48502	0.1503|0.1503	L|L	0.40543|0.40543	1.245|1.245	0.32084|0.32084	N|N	0.592769|0.592769	B|.	0.26775|.	0.159|.	B|.	0.16289|.	0.015|.	T|T	0.54912|0.54912	-0.8222|-0.8222	10|5	0.39692|.	T|.	0.17|.	-12.7139|-12.7139	13.2575|13.2575	0.60087|0.60087	0.0723:0.0:0.9277:0.0|0.0723:0.0:0.9277:0.0	.|.	835|.	O15083|.	ERC2_HUMAN|.	V|C	835|482	ENSP00000288221:A835V|.	ENSP00000288221:A835V|.	A|R	-|-	2|1	0|0	ERC2|ERC2	55897517|55897517	0.998000|0.998000	0.40836|0.40836	0.974000|0.974000	0.42286|0.42286	0.928000|0.928000	0.56348|0.56348	2.757000|2.757000	0.47557|0.47557	2.728000|2.728000	0.93425|0.93425	0.561000|0.561000	0.74099|0.74099	GCG|CGC		0.532	ERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350884.2	NM_015576		70	70	0	0	0	1	0	70	70					A	55922477	G	A	55922477	3	1	435	1	0	0	0	0	1	0	0	0	5211	1087	38	1	385	1	ERC2	3	55922477	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	418237	55922477	142099953	1887	22812											
CCDC66	285331	broad.mit.edu	37	chr3	56647708	56647708	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agaacaagaagaggagcttcGcttagcacaggaacgtgaag	16	5	13	7	2	0	4	0	1	0	3	1	6	0	6	0	2	4	3	0	2	6	2	rs370201168		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:56647708G>A	ENST00000394672.3	+	11	1566	c.1496G>A	c.(1495-1497)cGc>cAc	p.R499H	CCDC66_ENST00000436465.2_Missense_Mutation_p.R499H|CCDC66_ENST00000326595.7_Missense_Mutation_p.R465H	NM_001012506.4|NM_001141947.1	NP_001012524.4|NP_001135419.1	A2RUB6	CCD66_HUMAN	coiled-coil domain containing 66	499					post-embryonic retina morphogenesis in camera-type eye (GO:0060060)|retinal rod cell development (GO:0046548)					breast(1)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(2)|urinary_tract(1)	12				KIRC - Kidney renal clear cell carcinoma(284;0.0478)|Kidney(284;0.0597)|OV - Ovarian serous cystadenocarcinoma(275;0.233)		GAGGAGCTTCGCTTAGCACAG	0.408																																						ENST00000394672.3																			0				breast(1)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(2)|urinary_tract(1)	12						c.(1495-1497)cGc>cAc		coiled-coil domain containing 66		G	HIS/ARG,HIS/ARG	0,4406		0,0,2203	174	165	168		1394,1496	3.7	0.4	3		168	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	CCDC66	NM_001012506.4,NM_001141947.1	29,29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging	465/915,499/949	56647708	1,13005	2203	4300	6503	SO:0001583	missense	285331							g.chr3:56647708G>A	AL832692	CCDS33770.2, CCDS46852.1	3p14.3	2006-03-27			ENSG00000180376	ENSG00000180376			27709	protein-coding gene	gene with protein product						14702039	Standard	NR_024460		Approved	DKFZp686C0433	uc003dhz.3	A2RUB6	OTTHUMG00000155748	ENST00000394672.3:c.1496G>A	3.37:g.56647708G>A	ENSP00000378167:p.Arg499His					CCDC66_ENST00000326595.7_Missense_Mutation_p.R465H|CCDC66_ENST00000436465.2_Missense_Mutation_p.R499H	p.R499H	NM_001012506.4|NM_001141947.1	NP_001012524.4|NP_001135419.1	A2RUB6	CCD66_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0478)|Kidney(284;0.0597)|OV - Ovarian serous cystadenocarcinoma(275;0.233)	11	1566	+			499					B3KWL8|Q4VC34|Q8N949	Missense_Mutation	SNP	ENST00000394672.3	37	c.1496G>A	CCDS46852.1	.	.	.	.	.	.	.	.	.	.	G	19.18	3.778085	0.70107	0.0	1.16E-4	ENSG00000180376	ENST00000422222;ENST00000394672;ENST00000326595;ENST00000436465	T;T;T;T	0.62788	0.0;0.0;0.0;0.0	5.49	3.71	0.42584	.	0.187056	0.44902	D	0.000415	T	0.56411	0.1983	M	0.76328	2.33	0.52501	D	0.999957	P	0.36412	0.552	B	0.26202	0.067	T	0.59247	-0.7490	10	0.87932	D	0	-1.5516	10.1539	0.42812	0.1537:0.0:0.8463:0.0	.	499	A2RUB6	CCD66_HUMAN	H	455;499;465;499	ENSP00000401451:R455H;ENSP00000378167:R499H;ENSP00000326050:R465H;ENSP00000404320:R499H	ENSP00000326050:R465H	R	+	2	0	CCDC66	56622748	0.984000	0.35163	0.401000	0.26359	0.943000	0.58893	5.250000	0.65432	0.698000	0.31739	0.484000	0.47621	CGC		0.408	CCDC66-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341473.1	NM_001012506		19	33	0	0	0	1	0	19	33					A	56647708	G	A	56647708	3	1	435	1	0	0	0	0	1	0	0	0	2838	1087	38	1	1538	1	CCDC66	3	56647708	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	725231	56647708	141374722	1888	22813											
CCDC66	285331	broad.mit.edu	37	chr3	56650074	56650074	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tctaagaaggatactggtgtGcaaacaggtatttgtgtgga	12	12	13	4	0	1	1	0	0	1	1	1	3	1	3	0	4	3	2	0	4	5	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:56650074G>A	ENST00000394672.3	+	13	1906	c.1836G>A	c.(1834-1836)gtG>gtA	p.V612V	CCDC66_ENST00000436465.2_Silent_p.V612V|CCDC66_ENST00000326595.7_Silent_p.V578V	NM_001012506.4|NM_001141947.1	NP_001012524.4|NP_001135419.1	A2RUB6	CCD66_HUMAN	coiled-coil domain containing 66	612					post-embryonic retina morphogenesis in camera-type eye (GO:0060060)|retinal rod cell development (GO:0046548)					breast(1)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(2)|urinary_tract(1)	12				KIRC - Kidney renal clear cell carcinoma(284;0.0478)|Kidney(284;0.0597)|OV - Ovarian serous cystadenocarcinoma(275;0.233)		ATACTGGTGTGCAAACAGGTA	0.279																																						ENST00000394672.3																			0				breast(1)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(2)|urinary_tract(1)	12						c.(1834-1836)gtG>gtA		coiled-coil domain containing 66							85	97	93					3																	56650074		2203	4294	6497	SO:0001819	synonymous_variant	285331							g.chr3:56650074G>A	AL832692	CCDS33770.2, CCDS46852.1	3p14.3	2006-03-27			ENSG00000180376	ENSG00000180376			27709	protein-coding gene	gene with protein product						14702039	Standard	NR_024460		Approved	DKFZp686C0433	uc003dhz.3	A2RUB6	OTTHUMG00000155748	ENST00000394672.3:c.1836G>A	3.37:g.56650074G>A						CCDC66_ENST00000326595.7_Silent_p.V578V|CCDC66_ENST00000436465.2_Silent_p.V612V	p.V612V	NM_001012506.4|NM_001141947.1	NP_001012524.4|NP_001135419.1	A2RUB6	CCD66_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0478)|Kidney(284;0.0597)|OV - Ovarian serous cystadenocarcinoma(275;0.233)	13	1906	+			612					B3KWL8|Q4VC34|Q8N949	Silent	SNP	ENST00000394672.3	37	c.1836G>A	CCDS46852.1																																																																																				0.279	CCDC66-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341473.1	NM_001012506		30	42	0	0	0	1	0	30	42					A	56650074	G	A	56650074	2	1	435	1	0	0	0	0	0	0	0	1	2838	1306	46	3		3	CCDC66	3	56650074	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	2366	56650074	141372356	1889	22814											
IL17RD	54756	broad.mit.edu	37	chr3	57131715	57131715	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atcagtggcagagacagctcGgatgagggcacagacgagtc	12	5	15	9	2	1	3	1	1	0	2	3	6	1	4	0	3	1	3	0	3	0	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:57131715G>A	ENST00000296318.7	-	12	2104	c.2016C>T	c.(2014-2016)tcC>tcT	p.S672S	IL17RD_ENST00000463523.1_Silent_p.S528S|IL17RD_ENST00000320057.5_Silent_p.S528S|IL17RD_ENST00000427856.2_Silent_p.S648S	NM_017563.3	NP_060033.3	Q8NFM7	I17RD_HUMAN	interleukin 17 receptor D	672					signal transduction (GO:0007165)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(1)|ovary(1)|pancreas(1)	16				KIRC - Kidney renal clear cell carcinoma(284;0.0173)|Kidney(284;0.0204)		GAGACAGCTCGGATGAGGGCA	0.627																																						ENST00000296318.7																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(1)|ovary(1)|pancreas(1)	16						c.(2014-2016)tcC>tcT		interleukin 17 receptor D							42	36	38					3																	57131715		2203	4299	6502	SO:0001819	synonymous_variant	54756					Golgi membrane|integral to membrane|plasma membrane	receptor activity	g.chr3:57131715G>A	AF494208	CCDS2880.2	3p21.1	2008-02-05			ENSG00000144730	ENSG00000144730		"Interleukins and interleukin receptors"	17616	protein-coding gene	gene with protein product		606807				11802164, 12604616	Standard	NM_017563		Approved	SEF, IL17RLM, FLJ35755, IL-17RD	uc003dil.3	Q8NFM7	OTTHUMG00000150171	ENST00000296318.7:c.2016C>T	3.37:g.57131715G>A						IL17RD_ENST00000320057.5_Silent_p.S528S|IL17RD_ENST00000463523.1_Silent_p.S528S|IL17RD_ENST00000427856.2_Silent_p.S648S	p.S672S	NM_017563.3	NP_060033.3	Q8NFM7	I17RD_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0173)|Kidney(284;0.0204)	12	2104	-			672					Q2NKP7|Q58EZ7|Q6RVF4|Q6UWI5|Q8N113|Q8NFS0|Q9UFA0	Silent	SNP	ENST00000296318.7	37	c.2016C>T	CCDS2880.2																																																																																				0.627	IL17RD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316680.1	NM_017563		8	8	0	0	0	1	0	8	8					A	57131715	G	A	57131715	2	1	435	1	0	0	0	0	0	0	0	1	7642	1103	39	2		2	IL17RD	3	57131715	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	481641	57131715	140890715	1890	22815											
IL17RD	54756	broad.mit.edu	37	chr3	57131981	57131981	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcatttaaaaccaagcccgAatcaaatttctccaagactg	16	10	4	11	1	3	1	2	0	1	1	4	2	3	1	3	0	2	0	3	0	6	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:57131981A>G	ENST00000296318.7	-	12	1838	c.1750T>C	c.(1750-1752)Tcg>Ccg	p.S584P	IL17RD_ENST00000463523.1_Missense_Mutation_p.S440P|IL17RD_ENST00000320057.5_Missense_Mutation_p.S440P|IL17RD_ENST00000427856.2_Missense_Mutation_p.S560P	NM_017563.3	NP_060033.3	Q8NFM7	I17RD_HUMAN	interleukin 17 receptor D	584					signal transduction (GO:0007165)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(1)|ovary(1)|pancreas(1)	16				KIRC - Kidney renal clear cell carcinoma(284;0.0173)|Kidney(284;0.0204)		ACCAAGCCCGAATCAAATTTC	0.537																																						ENST00000296318.7																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(1)|ovary(1)|pancreas(1)	16						c.(1750-1752)Tcg>Ccg		interleukin 17 receptor D							41	44	43					3																	57131981		2203	4300	6503	SO:0001583	missense	54756					Golgi membrane|integral to membrane|plasma membrane	receptor activity	g.chr3:57131981A>G	AF494208	CCDS2880.2	3p21.1	2008-02-05			ENSG00000144730	ENSG00000144730		"Interleukins and interleukin receptors"	17616	protein-coding gene	gene with protein product		606807				11802164, 12604616	Standard	NM_017563		Approved	SEF, IL17RLM, FLJ35755, IL-17RD	uc003dil.3	Q8NFM7	OTTHUMG00000150171	ENST00000296318.7:c.1750T>C	3.37:g.57131981A>G	ENSP00000296318:p.Ser584Pro					IL17RD_ENST00000320057.5_Missense_Mutation_p.S440P|IL17RD_ENST00000463523.1_Missense_Mutation_p.S440P|IL17RD_ENST00000427856.2_Missense_Mutation_p.S560P	p.S584P	NM_017563.3	NP_060033.3	Q8NFM7	I17RD_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0173)|Kidney(284;0.0204)	12	1838	-			584					Q2NKP7|Q58EZ7|Q6RVF4|Q6UWI5|Q8N113|Q8NFS0|Q9UFA0	Missense_Mutation	SNP	ENST00000296318.7	37	c.1750T>C	CCDS2880.2	.	.	.	.	.	.	.	.	.	.	A	15.23	2.770891	0.49680	.	.	ENSG00000144730	ENST00000296318;ENST00000320057;ENST00000427856;ENST00000463523	T;T;T;T	0.20463	2.07;2.07;2.09;2.07	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	T	0.44159	0.1280	L	0.58101	1.795	0.54753	D	0.999987	D;D;D	0.89917	0.999;0.999;1.0	D;D;D	0.87578	0.996;0.996;0.998	T	0.33163	-0.9879	10	0.62326	D	0.03	-16.6535	15.8697	0.79101	1.0:0.0:0.0:0.0	.	440;584;560	B4DXM5;Q8NFM7;Q8NFM7-3	.;I17RD_HUMAN;.	P	584;440;560;440	ENSP00000296318:S584P;ENSP00000322250:S440P;ENSP00000399209:S560P;ENSP00000417516:S440P	ENSP00000296318:S584P	S	-	1	0	IL17RD	57107021	1.000000	0.71417	0.996000	0.52242	0.097000	0.18754	6.354000	0.73036	2.152000	0.67230	0.533000	0.62120	TCG		0.537	IL17RD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316680.1	NM_017563		10	19	0	0	0	1	0	10	19					G	57131981	A	G	57131981	3	3	435	1	0	0	0	0	1	0	0	0	7642	246	9	4	477	4	IL17RD	3	57131981	Missense_Mutation	SNP	A	TCGA-XK-AAIW-01A-11D-A41K-08	266	57131981	140890449	1891	22816											
IL17RD	54756	broad.mit.edu	37	chr3	57132270	57132270	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggtctaggataccggggacGtctccctcgcaggaataatc	10	8	12	11	3	2	0	0	0	2	0	5	3	2	3	2	5	1	1	2	5	4	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:57132270G>A	ENST00000296318.7	-	12	1549	c.1461C>T	c.(1459-1461)gaC>gaT	p.D487D	IL17RD_ENST00000463523.1_Silent_p.D343D|IL17RD_ENST00000320057.5_Silent_p.D343D|IL17RD_ENST00000427856.2_Silent_p.D463D	NM_017563.3	NP_060033.3	Q8NFM7	I17RD_HUMAN	interleukin 17 receptor D	487	SEFIR. {ECO:0000255|PROSITE- ProRule:PRU00867}.				signal transduction (GO:0007165)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(1)|ovary(1)|pancreas(1)	16				KIRC - Kidney renal clear cell carcinoma(284;0.0173)|Kidney(284;0.0204)		TACCGGGGACGTCTCCCTCGC	0.567																																						ENST00000296318.7																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(1)|ovary(1)|pancreas(1)	16						c.(1459-1461)gaC>gaT		interleukin 17 receptor D							63	56	58					3																	57132270		2203	4300	6503	SO:0001819	synonymous_variant	54756					Golgi membrane|integral to membrane|plasma membrane	receptor activity	g.chr3:57132270G>A	AF494208	CCDS2880.2	3p21.1	2008-02-05			ENSG00000144730	ENSG00000144730		"Interleukins and interleukin receptors"	17616	protein-coding gene	gene with protein product		606807				11802164, 12604616	Standard	NM_017563		Approved	SEF, IL17RLM, FLJ35755, IL-17RD	uc003dil.3	Q8NFM7	OTTHUMG00000150171	ENST00000296318.7:c.1461C>T	3.37:g.57132270G>A						IL17RD_ENST00000320057.5_Silent_p.D343D|IL17RD_ENST00000463523.1_Silent_p.D343D|IL17RD_ENST00000427856.2_Silent_p.D463D	p.D487D	NM_017563.3	NP_060033.3	Q8NFM7	I17RD_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0173)|Kidney(284;0.0204)	12	1549	-			487			SEFIR.		Q2NKP7|Q58EZ7|Q6RVF4|Q6UWI5|Q8N113|Q8NFS0|Q9UFA0	Silent	SNP	ENST00000296318.7	37	c.1461C>T	CCDS2880.2																																																																																				0.567	IL17RD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316680.1	NM_017563		11	13	0	0	0	1	0	11	13					A	57132270	G	A	57132270	2	1	435	1	0	0	0	0	0	0	0	1	7642	1136	40	1		1	IL17RD	3	57132270	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	289	57132270	140890160	1892	22817											
ASB14	142686	broad.mit.edu	37	chr3	57312473	57312473	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggatggactttgtctccatGtgggcaatcaaaacatcgct	11	11	10	9	1	2	0	1	0	1	0	4	2	2	2	1	3	1	2	1	3	3	1	rs141550235		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:57312473G>A	ENST00000389601.3	-	9	1483	c.1363C>T	c.(1363-1365)Cat>Tat	p.H455Y	ASB14_ENST00000487349.1_Missense_Mutation_p.H455Y	NM_130387.5	NP_569058.1	A6NK59	ASB14_HUMAN	ankyrin repeat and SOCS box containing 14	455					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)					central_nervous_system(1)|large_intestine(1)|lung(1)|skin(2)	5				KIRC - Kidney renal clear cell carcinoma(284;0.011)|Kidney(284;0.0127)		TTGTCTCCATGTGGGCAATCA	0.433																																						ENST00000487349.1																			0				central_nervous_system(1)|large_intestine(1)|lung(1)|skin(2)	5						c.(1363-1365)Cat>Tat		ankyrin repeat and SOCS box containing 14		G	TYR/HIS,TYR/HIS	0,4406		0,0,2203	158	150	153		1363,508	5.1	1	3	dbSNP_134	153	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	ASB14	NM_001142733.2,NM_130387.5	83,83	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign,benign	455/588,170/303	57312473	1,13005	2203	4300	6503	SO:0001583	missense	0				intracellular signal transduction			g.chr3:57312473G>A	AF403032	CCDS46856.1, CCDS46856.2	3p21.1	2013-01-10	2011-01-25			ENSG00000239388		"Ankyrin repeat domain containing"	19766	protein-coding gene	gene with protein product			"ankyrin repeat and SOCS box-containing 14"			12076535	Standard	NM_130387		Approved	DKFZp313L0121	uc021wzs.1	A6NK59		ENST00000389601.3:c.1363C>T	3.37:g.57312473G>A	ENSP00000374252:p.His455Tyr					ASB14_ENST00000389601.3_Missense_Mutation_p.H455Y	p.H455Y	NM_001142733.2|NM_130387.5	NP_001136205.2|NP_569058.1	A6NK59	ASB14_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.011)|Kidney(284;0.0127)	8	1483	-			455					C9JX97|Q8WXK2|Q92816	Missense_Mutation	SNP	ENST00000389601.3	37	c.1363C>T		.	.	.	.	.	.	.	.	.	.	G	7.612	0.674983	0.14841	0.0	1.16E-4	ENSG00000239388	ENST00000487349;ENST00000389601;ENST00000438870	T;T	0.66995	-0.19;-0.24	6.06	5.14	0.70334	.	.	.	.	.	T	0.51092	0.1654	L	0.29908	0.895	0.39369	D	0.966058	B;B	0.19073	0.004;0.033	B;B	0.21708	0.003;0.036	T	0.42531	-0.9446	9	0.10636	T	0.68	.	11.2939	0.49267	0.0668:0.0:0.8056:0.1276	.	455;170	C9JX97;A6NK59-2	.;.	Y	455;455;291	ENSP00000419199:H455Y;ENSP00000374252:H455Y	ENSP00000374252:H455Y	H	-	1	0	ASB14	57287513	0.998000	0.40836	1.000000	0.80357	0.968000	0.65278	3.356000	0.52269	2.880000	0.98712	0.650000	0.86243	CAT		0.433	ASB14-201	KNOWN	basic	protein_coding	protein_coding				5	115	0	0	0	1	0	5	115					A	57312473	G	A	57312473	3	1	435	1	0	0	0	0	1	0	0	0	1018	1377	48	3	412	3	ASB14	3	57312473	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	180203	57312473	140709957	1893	22818											
FAM116A	201627	broad.mit.edu	37	chr3	57631400	57631400	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttacttacggagcttgggtaCgggtagtatattctttgaat	9	16	11	5	2	1	1	0	1	1	0	1	2	1	2	0	3	4	4	0	3	7	9	rs150271072	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:57631400C>T	ENST00000311128.5	-	11	1095	c.1025G>A	c.(1024-1026)cGt>cAt	p.R342H	RP11-755B10.2_ENST00000470427.1_RNA	NM_152678.2	NP_689891.1	Q8IWF6	DEN6A_HUMAN	DENN/MADD domain containing 6A	342					positive regulation of cell-cell adhesion mediated by cadherin (GO:2000049)|positive regulation of Rab GTPase activity (GO:0032851)	cytoplasm (GO:0005737)|recycling endosome (GO:0055037)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)										AGCTTGGGTACGGGTAGTATA	0.333													C|||	7	0.00139776	0	0	5008	,	,		15499	0.001		0.005	False		,,,				2504	0.001					ENST00000311128.5																			0											c.(1024-1026)cGt>cAt		DENN/MADD domain containing 6A		C	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	97	99	99		1025	6.1	1	3	dbSNP_134	99	16,8582	11.2+/-40.8	0,16,4283	yes	missense	FAM116A	NM_152678.2	29	0,17,6485	TT,TC,CC		0.1861,0.0227,0.1307	probably-damaging	342/609	57631400	17,12987	2203	4299	6502	SO:0001583	missense	201627							g.chr3:57631400C>T	AK074156	CCDS33773.1	3p14.3	2013-10-11	2012-10-03	2012-10-03	ENSG00000174839	ENSG00000174839		"DENN/MADD domain containing"	26635	protein-coding gene	gene with protein product			"family with sequence similarity 116, member A"	FAM116A		21330364	Standard	NM_152678		Approved	FLJ34969, AFI1A	uc003dja.3	Q8IWF6	OTTHUMG00000158639	ENST00000311128.5:c.1025G>A	3.37:g.57631400C>T	ENSP00000311401:p.Arg342His					RP11-755B10.2_ENST00000470427.1_RNA	p.R342H	NM_152678.2	NP_689891.1					11	1095	-								Q7Z5T4|Q8N235|Q8TEG8	Missense_Mutation	SNP	ENST00000311128.5	37	c.1025G>A	CCDS33773.1	5	0.0022893772893772895	0	0.0	0	0.0	1	0.0017482517482517483	4	0.005277044854881266	C	31	5.076259	0.94000	2.27E-4	0.001861	ENSG00000174839	ENST00000311128	.	.	.	6.06	6.06	0.98353	.	0.000000	0.85682	D	0.000000	T	0.80082	0.4558	M	0.82517	2.595	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	T	0.82151	-0.0599	9	0.54805	T	0.06	-16.2511	20.2348	0.98355	0.0:1.0:0.0:0.0	.	342	Q8IWF6	F116A_HUMAN	H	342	.	ENSP00000311401:R342H	R	-	2	0	FAM116A	57606440	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.110000	0.57831	2.880000	0.98712	0.650000	0.86243	CGT		0.333	DENND6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351594.1	NM_152678		25	31	0	0	0	1	0	25	31					T	57631400	C	T	57631400	3	4	435	1	0	0	0	0	1	0	0	0	5407	536	19	1	841	1	FAM116A	3	57631400	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	318927	57631400	140391030	1894	22819											
FLNB	2317	broad.mit.edu	37	chr3	58064443	58064443	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcttttgtgttctgttaacaGgtctgtgcccagactgggaa	7	15	11	8	0	3	1	0	0	3	1	3	2	3	2	1	2	2	2	1	2	2	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:58064443G>A	ENST00000295956.4	+	3	706		c.e3-1		FLNB_ENST00000429972.2_Splice_Site|FLNB_ENST00000493452.1_Splice_Site|FLNB_ENST00000358537.3_Splice_Site|FLNB_ENST00000357272.4_Splice_Site|FLNB_ENST00000348383.5_Splice_Site|FLNB_ENST00000419752.2_Splice_Site|FLNB_ENST00000490882.1_Splice_Site	NM_001457.3	NP_001448.2	O75369	FLNB_HUMAN	filamin B, beta						actin cytoskeleton organization (GO:0030036)|cell differentiation (GO:0030154)|cytokine-mediated signaling pathway (GO:0019221)|cytoskeletal anchoring at plasma membrane (GO:0007016)|signal transduction (GO:0007165)|skeletal muscle tissue development (GO:0007519)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	actin binding (GO:0003779)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		TCTGTTAACAGGTCTGTGCCC	0.473																																						ENST00000357272.4																			0				NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120						c.e3-1		filamin B, beta							52	51	51					3																	58064443		2203	4300	6503	SO:0001630	splice_region_variant	2317				actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding	g.chr3:58064443G>A	AF043045	CCDS2885.1, CCDS54599.1, CCDS54600.1, CCDS54601.1	3p14.3	2011-02-11	2009-07-23		ENSG00000136068	ENSG00000136068			3755	protein-coding gene	gene with protein product	"actin binding protein 278"	603381	"filamin B, beta (actin binding protein 278)", "Larsen syndrome 1 (autosomal dominant)"	FLN1L, LRS1		8327473, 10449914, 14991055, 16801345	Standard	NM_001457		Approved	TAP, TABP, ABP-278, FH1	uc010hne.2	O75369	OTTHUMG00000159158	ENST00000295956.4:c.542-1G>A	3.37:g.58064443G>A						FLNB_ENST00000490882.1_Splice_Site|FLNB_ENST00000295956.4_Splice_Site|FLNB_ENST00000493452.1_Splice_Site|FLNB_ENST00000358537.3_Splice_Site|FLNB_ENST00000429972.2_Splice_Site|FLNB_ENST00000419752.2_Splice_Site|FLNB_ENST00000348383.5_Splice_Site				O75369	FLNB_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)	3	706	+								B2ZZ83|B2ZZ84|B2ZZ85|C9JKE6|C9JMC4|Q13706|Q59EC2|Q60FE7|Q6MZJ1|Q8WXS9|Q8WXT0|Q8WXT1|Q8WXT2|Q8WXT3|Q9NRB5|Q9NT26|Q9UEV9	Splice_Site	SNP	ENST00000295956.4	37		CCDS2885.1	.	.	.	.	.	.	.	.	.	.	G	18.59	3.657874	0.67586	.	.	ENSG00000136068	ENST00000295956;ENST00000490882;ENST00000358537;ENST00000429972;ENST00000348383;ENST00000357272;ENST00000493452;ENST00000419752	.	.	.	5.48	5.48	0.80851	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.7173	0.96127	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	FLNB	58039483	1.000000	0.71417	1.000000	0.80357	0.656000	0.38851	9.813000	0.99286	2.724000	0.93272	0.563000	0.77884	.		0.473	FLNB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000353569.1	NM_001457	Intron	11	16	0	0	0	1	0	11	16					A	58064443	G	A	58064443	5	1	435	1	0	0	0	0	0	0	1	0	5934	1014	35	3	551	3	FLNB	3	58064443	Splice_Site	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	433043	58064443	139957987	1895	22820											
FLNB	2317	broad.mit.edu	37	chr3	58080667	58080667	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgtttgttgaggacccagaaGggaacaaagaggaggtatgt	13	9	15	4	0	0	3	0	1	0	2	0	6	0	6	1	4	1	3	1	4	4	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:58080667G>A	ENST00000295956.4	+	5	1057	c.892G>A	c.(892-894)Ggg>Agg	p.G298R	FLNB_ENST00000429972.2_Missense_Mutation_p.G298R|FLNB_ENST00000493452.1_Missense_Mutation_p.G129R|FLNB_ENST00000358537.3_Missense_Mutation_p.G298R|FLNB_ENST00000357272.4_Missense_Mutation_p.G298R|FLNB_ENST00000348383.5_Missense_Mutation_p.G298R|FLNB_ENST00000419752.2_Missense_Mutation_p.G129R|FLNB_ENST00000490882.1_Missense_Mutation_p.G298R	NM_001457.3	NP_001448.2	O75369	FLNB_HUMAN	filamin B, beta	298					actin cytoskeleton organization (GO:0030036)|cell differentiation (GO:0030154)|cytokine-mediated signaling pathway (GO:0019221)|cytoskeletal anchoring at plasma membrane (GO:0007016)|signal transduction (GO:0007165)|skeletal muscle tissue development (GO:0007519)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	actin binding (GO:0003779)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		GGACCCAGAAGGGAACAAAGA	0.557																																						ENST00000357272.4																			0				NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120						c.(892-894)Ggg>Agg		filamin B, beta							211	191	198					3																	58080667		2203	4300	6503	SO:0001583	missense	2317				actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding	g.chr3:58080667G>A	AF043045	CCDS2885.1, CCDS54599.1, CCDS54600.1, CCDS54601.1	3p14.3	2011-02-11	2009-07-23		ENSG00000136068	ENSG00000136068			3755	protein-coding gene	gene with protein product	"actin binding protein 278"	603381	"filamin B, beta (actin binding protein 278)", "Larsen syndrome 1 (autosomal dominant)"	FLN1L, LRS1		8327473, 10449914, 14991055, 16801345	Standard	NM_001457		Approved	TAP, TABP, ABP-278, FH1	uc010hne.2	O75369	OTTHUMG00000159158	ENST00000295956.4:c.892G>A	3.37:g.58080667G>A	ENSP00000295956:p.Gly298Arg					FLNB_ENST00000490882.1_Missense_Mutation_p.G298R|FLNB_ENST00000295956.4_Missense_Mutation_p.G298R|FLNB_ENST00000493452.1_Missense_Mutation_p.G129R|FLNB_ENST00000358537.3_Missense_Mutation_p.G298R|FLNB_ENST00000429972.2_Missense_Mutation_p.G298R|FLNB_ENST00000419752.2_Missense_Mutation_p.G129R|FLNB_ENST00000348383.5_Missense_Mutation_p.G298R	p.G298R			O75369	FLNB_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)	5	1057	+			298					B2ZZ83|B2ZZ84|B2ZZ85|C9JKE6|C9JMC4|Q13706|Q59EC2|Q60FE7|Q6MZJ1|Q8WXS9|Q8WXT0|Q8WXT1|Q8WXT2|Q8WXT3|Q9NRB5|Q9NT26|Q9UEV9	Missense_Mutation	SNP	ENST00000295956.4	37	c.892G>A	CCDS2885.1	.	.	.	.	.	.	.	.	.	.	G	34	5.296386	0.95574	.	.	ENSG00000136068	ENST00000295956;ENST00000490882;ENST00000358537;ENST00000429972;ENST00000348383;ENST00000357272;ENST00000493452;ENST00000419752	T;T;T;T;T;T;T;T	0.70631	-0.5;-0.5;-0.5;-0.5;-0.5;-0.5;-0.5;-0.5	5.66	5.66	0.87406	Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.049572	0.85682	D	0.000000	D	0.88923	0.6569	M	0.93375	3.41	0.80722	D	1	D;D;D;P;D;D	0.89917	0.995;1.0;0.998;0.511;0.996;0.996	D;D;D;B;D;D	0.79108	0.97;0.992;0.983;0.287;0.983;0.983	D	0.90873	0.4747	10	0.87932	D	0	.	20.1253	0.97977	0.0:0.0:1.0:0.0	.	298;298;129;129;298;298	O75369-2;B2ZZ83;E7EN95;O75369-7;Q60FE7;O75369	.;.;.;.;.;FLNB_HUMAN	R	298;298;298;298;298;298;129;129	ENSP00000295956:G298R;ENSP00000420213:G298R;ENSP00000351339:G298R;ENSP00000415599:G298R;ENSP00000232447:G298R;ENSP00000349819:G298R;ENSP00000418510:G129R;ENSP00000414532:G129R	ENSP00000295956:G298R	G	+	1	0	FLNB	58055707	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.797000	0.99108	2.832000	0.97577	0.655000	0.94253	GGG		0.557	FLNB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000353569.1	NM_001457		22	51	0	0	0	1	0	22	51					A	58080667	G	A	58080667	3	1	435	1	0	0	0	0	1	0	0	0	5934	1000	35	3	910	3	FLNB	3	58080667	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	16224	58080667	139941763	1896	22821											
FLNB	2317	broad.mit.edu	37	chr3	58081884	58081884	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctaggcacaagtgacccctgAcagtgacaagaacaagacat	16	5	9	11	0	0	5	0	3	0	2	0	5	0	5	2	1	1	1	2	1	5	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:58081884A>G	ENST00000295956.4	+	6	1088	c.923A>G	c.(922-924)gAc>gGc	p.D308G	FLNB_ENST00000429972.2_Missense_Mutation_p.D308G|FLNB_ENST00000493452.1_Missense_Mutation_p.D139G|FLNB_ENST00000358537.3_Missense_Mutation_p.D308G|FLNB_ENST00000357272.4_Missense_Mutation_p.D308G|FLNB_ENST00000348383.5_Missense_Mutation_p.D308G|FLNB_ENST00000419752.2_Missense_Mutation_p.D139G|FLNB_ENST00000490882.1_Missense_Mutation_p.D308G	NM_001457.3	NP_001448.2	O75369	FLNB_HUMAN	filamin B, beta	308					actin cytoskeleton organization (GO:0030036)|cell differentiation (GO:0030154)|cytokine-mediated signaling pathway (GO:0019221)|cytoskeletal anchoring at plasma membrane (GO:0007016)|signal transduction (GO:0007165)|skeletal muscle tissue development (GO:0007519)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	actin binding (GO:0003779)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)	p.D308G(1)		NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		GTGACCCCTGACAGTGACAAG	0.547																																						ENST00000357272.4																			1	Substitution - Missense(1)	p.D308G(1)	large_intestine(1)	NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120						c.(922-924)gAc>gGc		filamin B, beta							95	77	83					3																	58081884		2203	4300	6503	SO:0001583	missense	2317				actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding	g.chr3:58081884A>G	AF043045	CCDS2885.1, CCDS54599.1, CCDS54600.1, CCDS54601.1	3p14.3	2011-02-11	2009-07-23		ENSG00000136068	ENSG00000136068			3755	protein-coding gene	gene with protein product	"actin binding protein 278"	603381	"filamin B, beta (actin binding protein 278)", "Larsen syndrome 1 (autosomal dominant)"	FLN1L, LRS1		8327473, 10449914, 14991055, 16801345	Standard	NM_001457		Approved	TAP, TABP, ABP-278, FH1	uc010hne.2	O75369	OTTHUMG00000159158	ENST00000295956.4:c.923A>G	3.37:g.58081884A>G	ENSP00000295956:p.Asp308Gly					FLNB_ENST00000490882.1_Missense_Mutation_p.D308G|FLNB_ENST00000295956.4_Missense_Mutation_p.D308G|FLNB_ENST00000493452.1_Missense_Mutation_p.D139G|FLNB_ENST00000358537.3_Missense_Mutation_p.D308G|FLNB_ENST00000429972.2_Missense_Mutation_p.D308G|FLNB_ENST00000419752.2_Missense_Mutation_p.D139G|FLNB_ENST00000348383.5_Missense_Mutation_p.D308G	p.D308G			O75369	FLNB_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)	6	1088	+			308					B2ZZ83|B2ZZ84|B2ZZ85|C9JKE6|C9JMC4|Q13706|Q59EC2|Q60FE7|Q6MZJ1|Q8WXS9|Q8WXT0|Q8WXT1|Q8WXT2|Q8WXT3|Q9NRB5|Q9NT26|Q9UEV9	Missense_Mutation	SNP	ENST00000295956.4	37	c.923A>G	CCDS2885.1	.	.	.	.	.	.	.	.	.	.	A	15.25	2.778163	0.49786	.	.	ENSG00000136068	ENST00000295956;ENST00000490882;ENST00000358537;ENST00000429972;ENST00000348383;ENST00000357272;ENST00000493452;ENST00000419752	T;T;T;T;T;T;T;T	0.62498	0.02;0.02;0.02;0.02;0.02;0.02;0.02;0.02	5.77	3.33	0.38152	Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.332110	0.38436	N	0.001690	T	0.51753	0.1693	N	0.24115	0.695	0.31381	N	0.679041	B;B;B;B;B;B	0.30605	0.125;0.071;0.287;0.003;0.287;0.287	B;B;B;B;B;B	0.36092	0.096;0.103;0.217;0.039;0.217;0.217	T	0.59209	-0.7497	10	0.72032	D	0.01	.	13.6896	0.62537	0.6143:0.3857:0.0:0.0	.	308;308;139;139;308;308	O75369-2;B2ZZ83;E7EN95;O75369-7;Q60FE7;O75369	.;.;.;.;.;FLNB_HUMAN	G	308;308;308;308;308;308;139;139	ENSP00000295956:D308G;ENSP00000420213:D308G;ENSP00000351339:D308G;ENSP00000415599:D308G;ENSP00000232447:D308G;ENSP00000349819:D308G;ENSP00000418510:D139G;ENSP00000414532:D139G	ENSP00000295956:D308G	D	+	2	0	FLNB	58056924	0.995000	0.38212	0.081000	0.20488	0.968000	0.65278	2.266000	0.43320	0.500000	0.27991	0.533000	0.62120	GAC		0.547	FLNB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000353569.1	NM_001457		14	13	0	0	0	1	0	14	13					G	58081884	A	G	58081884	3	3	435	1	0	0	0	0	1	0	0	0	5934	275	10	4	945	4	FLNB	3	58081884	Missense_Mutation	SNP	A	TCGA-XK-AAIW-01A-11D-A41K-08	1217	58081884	139940546	1897	22822											
FLNB	2317	broad.mit.edu	37	chr3	58107209	58107209	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccctacacagtggaggcctcGctgccaccagatcccagcaa	10	5	9	17	1	0	1	0	0	0	1	2	2	1	2	5	2	3	2	5	2	2	1	rs541935783		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:58107209G>A	ENST00000295956.4	+	20	3270	c.3105G>A	c.(3103-3105)tcG>tcA	p.S1035S	FLNB_ENST00000429972.2_Silent_p.S1035S|FLNB_ENST00000493452.1_Silent_p.S866S|FLNB_ENST00000358537.3_Silent_p.S1035S|FLNB_ENST00000357272.4_Silent_p.S1035S|FLNB_ENST00000348383.5_Silent_p.S1035S|FLNB_ENST00000419752.2_Silent_p.S866S|FLNB_ENST00000490882.1_Silent_p.S1035S	NM_001457.3	NP_001448.2	O75369	FLNB_HUMAN	filamin B, beta	1035					actin cytoskeleton organization (GO:0030036)|cell differentiation (GO:0030154)|cytokine-mediated signaling pathway (GO:0019221)|cytoskeletal anchoring at plasma membrane (GO:0007016)|signal transduction (GO:0007165)|skeletal muscle tissue development (GO:0007519)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	actin binding (GO:0003779)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		TGGAGGCCTCGCTGCCACCAG	0.572													G|||	1	0.000199681	0	0	5008	,	,		20558	0		0	False		,,,				2504	0.001					ENST00000357272.4																			0				NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120						c.(3103-3105)tcG>tcA		filamin B, beta							92	98	96					3																	58107209		2203	4300	6503	SO:0001819	synonymous_variant	2317				actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding	g.chr3:58107209G>A	AF043045	CCDS2885.1, CCDS54599.1, CCDS54600.1, CCDS54601.1	3p14.3	2011-02-11	2009-07-23		ENSG00000136068	ENSG00000136068			3755	protein-coding gene	gene with protein product	"actin binding protein 278"	603381	"filamin B, beta (actin binding protein 278)", "Larsen syndrome 1 (autosomal dominant)"	FLN1L, LRS1		8327473, 10449914, 14991055, 16801345	Standard	NM_001457		Approved	TAP, TABP, ABP-278, FH1	uc010hne.2	O75369	OTTHUMG00000159158	ENST00000295956.4:c.3105G>A	3.37:g.58107209G>A						FLNB_ENST00000490882.1_Silent_p.S1035S|FLNB_ENST00000295956.4_Silent_p.S1035S|FLNB_ENST00000493452.1_Silent_p.S866S|FLNB_ENST00000358537.3_Silent_p.S1035S|FLNB_ENST00000429972.2_Silent_p.S1035S|FLNB_ENST00000419752.2_Silent_p.S866S|FLNB_ENST00000348383.5_Silent_p.S1035S	p.S1035S			O75369	FLNB_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)	20	3270	+			1035					B2ZZ83|B2ZZ84|B2ZZ85|C9JKE6|C9JMC4|Q13706|Q59EC2|Q60FE7|Q6MZJ1|Q8WXS9|Q8WXT0|Q8WXT1|Q8WXT2|Q8WXT3|Q9NRB5|Q9NT26|Q9UEV9	Silent	SNP	ENST00000295956.4	37	c.3105G>A	CCDS2885.1																																																																																				0.572	FLNB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000353569.1	NM_001457		32	54	0	0	0	1	0	32	54					A	58107209	G	A	58107209	2	1	435	1	0	0	0	0	0	0	0	1	5934	1074	38	1		1	FLNB	3	58107209	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	25325	58107209	139915221	1898	22823											
FLNB	2317	broad.mit.edu	37	chr3	58109158	58109158	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggtgaagctggcctccttagCgtcgactgctcggaagcggg	6	8	16	11	4	0	1	0	1	0	0	3	3	1	2	2	4	4	2	2	4	3	1	rs542106385		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:58109158C>T	ENST00000295956.4	+	21	3630	c.3465C>T	c.(3463-3465)agC>agT	p.S1155S	FLNB_ENST00000429972.2_Silent_p.S1155S|FLNB_ENST00000493452.1_Silent_p.S986S|FLNB_ENST00000358537.3_Silent_p.S1155S|FLNB_ENST00000357272.4_Silent_p.S1155S|FLNB_ENST00000348383.5_Silent_p.S1155S|FLNB_ENST00000419752.2_Silent_p.S986S|FLNB_ENST00000490882.1_Silent_p.S1155S	NM_001457.3	NP_001448.2	O75369	FLNB_HUMAN	filamin B, beta	1155	Interaction with FBLP1.				actin cytoskeleton organization (GO:0030036)|cell differentiation (GO:0030154)|cytokine-mediated signaling pathway (GO:0019221)|cytoskeletal anchoring at plasma membrane (GO:0007016)|signal transduction (GO:0007165)|skeletal muscle tissue development (GO:0007519)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	actin binding (GO:0003779)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		GCCTCCTTAGCGTCGACTGCT	0.582													C|||	1	0.000199681	8e-04	0	5008	,	,		16396	0		0	False		,,,				2504	0					ENST00000357272.4																			0				NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120						c.(3463-3465)agC>agT		filamin B, beta							67	75	72					3																	58109158		2203	4300	6503	SO:0001819	synonymous_variant	2317				actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding	g.chr3:58109158C>T	AF043045	CCDS2885.1, CCDS54599.1, CCDS54600.1, CCDS54601.1	3p14.3	2011-02-11	2009-07-23		ENSG00000136068	ENSG00000136068			3755	protein-coding gene	gene with protein product	"actin binding protein 278"	603381	"filamin B, beta (actin binding protein 278)", "Larsen syndrome 1 (autosomal dominant)"	FLN1L, LRS1		8327473, 10449914, 14991055, 16801345	Standard	NM_001457		Approved	TAP, TABP, ABP-278, FH1	uc010hne.2	O75369	OTTHUMG00000159158	ENST00000295956.4:c.3465C>T	3.37:g.58109158C>T						FLNB_ENST00000490882.1_Silent_p.S1155S|FLNB_ENST00000295956.4_Silent_p.S1155S|FLNB_ENST00000493452.1_Silent_p.S986S|FLNB_ENST00000358537.3_Silent_p.S1155S|FLNB_ENST00000429972.2_Silent_p.S1155S|FLNB_ENST00000419752.2_Silent_p.S986S|FLNB_ENST00000348383.5_Silent_p.S1155S	p.S1155S			O75369	FLNB_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)	21	3630	+			1155			Interaction with FBLP1.		B2ZZ83|B2ZZ84|B2ZZ85|C9JKE6|C9JMC4|Q13706|Q59EC2|Q60FE7|Q6MZJ1|Q8WXS9|Q8WXT0|Q8WXT1|Q8WXT2|Q8WXT3|Q9NRB5|Q9NT26|Q9UEV9	Silent	SNP	ENST00000295956.4	37	c.3465C>T	CCDS2885.1																																																																																				0.582	FLNB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000353569.1	NM_001457		27	49	0	0	0	1	0	27	49					T	58109158	C	T	58109158	2	4	435	1	0	0	0	0	0	0	0	1	5934	767	27	1		1	FLNB	3	58109158	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	1949	58109158	139913272	1899	22824											
FLNB	2317	broad.mit.edu	37	chr3	58121794	58121794	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	catccccgacaagactgggcGctatatgattggagtcacct	10	9	10	12	2	1	2	1	1	0	1	2	4	2	3	3	2	0	1	3	2	3	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:58121794G>A	ENST00000295956.4	+	28	4925	c.4760G>A	c.(4759-4761)cGc>cAc	p.R1587H	FLNB_ENST00000429972.2_Missense_Mutation_p.R1587H|FLNB_ENST00000493452.1_Missense_Mutation_p.R1418H|FLNB_ENST00000358537.3_Missense_Mutation_p.R1587H|FLNB_ENST00000357272.4_Missense_Mutation_p.R1587H|FLNB_ENST00000348383.5_Missense_Mutation_p.R1587H|FLNB_ENST00000419752.2_Missense_Mutation_p.R1418H|FLNB_ENST00000490882.1_Missense_Mutation_p.R1618H	NM_001457.3	NP_001448.2	O75369	FLNB_HUMAN	filamin B, beta	1587					actin cytoskeleton organization (GO:0030036)|cell differentiation (GO:0030154)|cytokine-mediated signaling pathway (GO:0019221)|cytoskeletal anchoring at plasma membrane (GO:0007016)|signal transduction (GO:0007165)|skeletal muscle tissue development (GO:0007519)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	actin binding (GO:0003779)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		AAGACTGGGCGCTATATGATT	0.527																																						ENST00000357272.4																			0				NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120						c.(4759-4761)cGc>cAc		filamin B, beta							88	77	81					3																	58121794		2203	4300	6503	SO:0001583	missense	2317				actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding	g.chr3:58121794G>A	AF043045	CCDS2885.1, CCDS54599.1, CCDS54600.1, CCDS54601.1	3p14.3	2011-02-11	2009-07-23		ENSG00000136068	ENSG00000136068			3755	protein-coding gene	gene with protein product	"actin binding protein 278"	603381	"filamin B, beta (actin binding protein 278)", "Larsen syndrome 1 (autosomal dominant)"	FLN1L, LRS1		8327473, 10449914, 14991055, 16801345	Standard	NM_001457		Approved	TAP, TABP, ABP-278, FH1	uc010hne.2	O75369	OTTHUMG00000159158	ENST00000295956.4:c.4760G>A	3.37:g.58121794G>A	ENSP00000295956:p.Arg1587His					FLNB_ENST00000490882.1_Missense_Mutation_p.R1618H|FLNB_ENST00000295956.4_Missense_Mutation_p.R1587H|FLNB_ENST00000493452.1_Missense_Mutation_p.R1418H|FLNB_ENST00000358537.3_Missense_Mutation_p.R1587H|FLNB_ENST00000429972.2_Missense_Mutation_p.R1587H|FLNB_ENST00000419752.2_Missense_Mutation_p.R1418H|FLNB_ENST00000348383.5_Missense_Mutation_p.R1587H	p.R1587H			O75369	FLNB_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)	28	4925	+			1587					B2ZZ83|B2ZZ84|B2ZZ85|C9JKE6|C9JMC4|Q13706|Q59EC2|Q60FE7|Q6MZJ1|Q8WXS9|Q8WXT0|Q8WXT1|Q8WXT2|Q8WXT3|Q9NRB5|Q9NT26|Q9UEV9	Missense_Mutation	SNP	ENST00000295956.4	37	c.4760G>A	CCDS2885.1	.	.	.	.	.	.	.	.	.	.	G	35	5.523408	0.96431	.	.	ENSG00000136068	ENST00000295956;ENST00000490882;ENST00000358537;ENST00000429972;ENST00000348383;ENST00000357272;ENST00000493452;ENST00000419752	D;D;D;D;D;D;D;D	0.85013	-1.93;-1.93;-1.93;-1.93;-1.93;-1.93;-1.93;-1.93	5.99	5.99	0.97316	Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.93416	0.7900	M	0.82630	2.6	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;0.999;1.0;1.0;1.0	D;D;D;D;D;D	0.91635	0.996;0.999;0.998;0.977;0.999;0.999	D	0.93255	0.6638	10	0.72032	D	0.01	.	20.4635	0.99160	0.0:0.0:1.0:0.0	.	1587;1618;1418;1418;1587;1587	O75369-2;B2ZZ83;E7EN95;O75369-7;Q60FE7;O75369	.;.;.;.;.;FLNB_HUMAN	H	1587;1618;1587;1587;1587;1587;1418;1418	ENSP00000295956:R1587H;ENSP00000420213:R1618H;ENSP00000351339:R1587H;ENSP00000415599:R1587H;ENSP00000232447:R1587H;ENSP00000349819:R1587H;ENSP00000418510:R1418H;ENSP00000414532:R1418H	ENSP00000295956:R1587H	R	+	2	0	FLNB	58096834	1.000000	0.71417	0.999000	0.59377	0.891000	0.51852	9.861000	0.99562	2.831000	0.97527	0.650000	0.86243	CGC		0.527	FLNB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000353569.1	NM_001457		15	10	0	0	0	1	0	15	10					A	58121794	G	A	58121794	3	1	435	1	0	0	0	0	1	0	0	0	5934	1087	38	1	4967	1	FLNB	3	58121794	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	12636	58121794	139900636	1900	22825											
PXK	54899	broad.mit.edu	37	chr3	58351637	58351637	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tgcaaagaggaatttctgtgGaaaacagctggcaggtaagc	14	8	13	6	0	1	1	0	0	1	1	1	3	1	3	0	4	4	4	0	4	5	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:58351637G>A	ENST00000356151.2	+	2	248	c.139G>A	c.(139-141)Gaa>Aaa	p.E47K	PXK_ENST00000302779.5_Intron|PXK_ENST00000484288.1_Missense_Mutation_p.E47K|PXK_ENST00000383715.4_Intron|PXK_ENST00000536660.1_Intron|PXK_ENST00000463280.1_Intron|PXK_ENST00000383716.3_Intron|PXK_ENST00000479241.1_Intron	NM_017771.3	NP_060241.2			PX domain containing serine/threonine kinase											cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	19				BRCA - Breast invasive adenocarcinoma(55;0.000249)|KIRC - Kidney renal clear cell carcinoma(10;0.00346)|Kidney(10;0.00368)|OV - Ovarian serous cystadenocarcinoma(275;0.22)		AATTTCTGTGGAAAACAGCTG	0.353																																						ENST00000356151.2																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	19						c.(139-141)Gaa>Aaa		PX domain containing serine/threonine kinase							44	46	45					3																	58351637		2201	4298	6499	SO:0001583	missense	54899				cell communication|inflammatory response|negative regulation of ATPase activity|negative regulation of ion transport|regulation of synaptic transmission	centrosome|cytoplasm|nucleus|plasma membrane	actin binding|ATP binding|phosphatidylinositol binding|protein C-terminus binding|protein kinase activity	g.chr3:58351637G>A	AY274811	CCDS2889.1, CCDS74952.1, CCDS74954.1, CCDS74955.1	3p21.2	2008-02-05			ENSG00000168297	ENSG00000168297			23326	protein-coding gene	gene with protein product		611450					Standard	XM_005265255		Approved	FLJ20335	uc003djz.1	Q7Z7A4	OTTHUMG00000159149	ENST00000356151.2:c.139G>A	3.37:g.58351637G>A	ENSP00000348472:p.Glu47Lys					PXK_ENST00000463280.1_Intron|PXK_ENST00000536660.1_Intron|PXK_ENST00000302779.5_Intron|PXK_ENST00000383715.4_Intron|PXK_ENST00000484288.1_Missense_Mutation_p.E47K|PXK_ENST00000479241.1_Intron|PXK_ENST00000383716.3_Intron	p.E47K	NM_017771.3	NP_060241.2	Q7Z7A4	PXK_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000249)|KIRC - Kidney renal clear cell carcinoma(10;0.00346)|Kidney(10;0.00368)|OV - Ovarian serous cystadenocarcinoma(275;0.22)	2	248	+			47			PX.			Missense_Mutation	SNP	ENST00000356151.2	37	c.139G>A	CCDS2889.1	.	.	.	.	.	.	.	.	.	.	G	25.0	4.591666	0.86953	.	.	ENSG00000168297	ENST00000356151;ENST00000484288;ENST00000491164	T;T;T	0.38560	1.13;1.13;1.13	5.03	5.03	0.67393	Phox homologous domain (5);	0.141177	0.64402	D	0.000006	T	0.53174	0.1780	L	0.39085	1.19	0.80722	D	1	D;D	0.63880	0.993;0.992	D;P	0.65323	0.934;0.856	T	0.51973	-0.8637	10	0.48119	T	0.1	-11.0262	16.5163	0.84301	0.0:0.0:1.0:0.0	.	47;47	Q7Z7A4;Q7Z7A4-2	PXK_HUMAN;.	K	47;47;38	ENSP00000348472:E47K;ENSP00000417915:E47K;ENSP00000418831:E38K	ENSP00000348472:E47K	E	+	1	0	PXK	58326677	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.687000	0.68219	2.490000	0.84030	0.650000	0.86243	GAA		0.353	PXK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353499.1	NM_017771		18	27	0	0	0	1	0	18	27					A	58351637	G	A	58351637	3	1	435	1	0	0	0	0	1	0	0	0	12849	1175	41	3	145	3	PXK	3	58351637	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	229843	58351637	139670793	1901	22826											
PXK	54899	broad.mit.edu	37	chr3	58381463	58381463	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tggaactccagcaaataaaaAcatatggacggcaaatatta	19	8	7	7	1	0	0	0	0	0	0	1	2	1	2	1	3	3	2	1	3	9	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:58381463A>T	ENST00000356151.2	+	9	908	c.799A>T	c.(799-801)Aca>Tca	p.T267S	PXK_ENST00000302779.5_Missense_Mutation_p.T250S|PXK_ENST00000484288.1_Missense_Mutation_p.T267S|PXK_ENST00000383715.4_Missense_Mutation_p.T250S|PXK_ENST00000536660.1_Missense_Mutation_p.T130S|PXK_ENST00000463280.1_Missense_Mutation_p.T234S|PXK_ENST00000383716.3_Missense_Mutation_p.T234S|PXK_ENST00000479241.1_Missense_Mutation_p.T250S	NM_017771.3	NP_060241.2			PX domain containing serine/threonine kinase											cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	19				BRCA - Breast invasive adenocarcinoma(55;0.000249)|KIRC - Kidney renal clear cell carcinoma(10;0.00346)|Kidney(10;0.00368)|OV - Ovarian serous cystadenocarcinoma(275;0.22)		GCAAATAAAAACATATGGACG	0.358																																						ENST00000463280.1																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	19						c.(700-702)Aca>Tca		PX domain containing serine/threonine kinase							62	64	64					3																	58381463		2203	4300	6503	SO:0001583	missense	54899				cell communication|inflammatory response|negative regulation of ATPase activity|negative regulation of ion transport|regulation of synaptic transmission	centrosome|cytoplasm|nucleus|plasma membrane	actin binding|ATP binding|phosphatidylinositol binding|protein C-terminus binding|protein kinase activity	g.chr3:58381463A>T	AY274811	CCDS2889.1, CCDS74952.1, CCDS74954.1, CCDS74955.1	3p21.2	2008-02-05			ENSG00000168297	ENSG00000168297			23326	protein-coding gene	gene with protein product		611450					Standard	XM_005265255		Approved	FLJ20335	uc003djz.1	Q7Z7A4	OTTHUMG00000159149	ENST00000356151.2:c.799A>T	3.37:g.58381463A>T	ENSP00000348472:p.Thr267Ser					PXK_ENST00000536660.1_Missense_Mutation_p.T130S|PXK_ENST00000302779.5_Missense_Mutation_p.T250S|PXK_ENST00000383715.4_Missense_Mutation_p.T250S|PXK_ENST00000484288.1_Missense_Mutation_p.T267S|PXK_ENST00000479241.1_Missense_Mutation_p.T250S|PXK_ENST00000383716.3_Missense_Mutation_p.T234S|PXK_ENST00000356151.2_Missense_Mutation_p.T267S	p.T234S			Q7Z7A4	PXK_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000249)|KIRC - Kidney renal clear cell carcinoma(10;0.00346)|Kidney(10;0.00368)|OV - Ovarian serous cystadenocarcinoma(275;0.22)	7	791	+			267			Protein kinase.			Missense_Mutation	SNP	ENST00000356151.2	37	c.700A>T	CCDS2889.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	10.10|10.10	1.256931|1.256931	0.22965|0.22965	.|.	.|.	ENSG00000168297|ENSG00000168297	ENST00000479134|ENST00000356151;ENST00000302779;ENST00000383716;ENST00000463280;ENST00000383715;ENST00000484288;ENST00000479241;ENST00000536660;ENST00000536750	T|T;T;T;T;T;T;T;T	0.74947|0.64260	-0.89|-0.09;-0.09;-0.09;-0.09;-0.09;-0.09;-0.09;-0.09	5.22|5.22	2.76|2.76	0.32466|0.32466	.|Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	.|0.304645	.|0.35495	.|N	.|0.003173	T|T	0.36276|0.36276	0.0961|0.0961	N|N	0.11698|0.11698	0.16|0.16	0.40702|0.40702	D|D	0.982499|0.982499	.|B;B;B;B;B;B	.|0.15473	.|0.003;0.001;0.003;0.013;0.001;0.004	.|B;B;B;B;B;B	.|0.17098	.|0.005;0.003;0.005;0.017;0.003;0.005	T|T	0.09271|0.09271	-1.0682|-1.0682	7|10	0.56958|0.25751	D|T	0.05|0.34	-7.801|-7.801	3.916|3.916	0.09224|0.09224	0.6656:0.1338:0.0719:0.1286|0.6656:0.1338:0.0719:0.1286	.|.	.|234;234;234;267;250;267	.|E9PD56;Q7Z7A4-6;B4DID9;Q7Z7A4;Q7Z7A4-4;Q7Z7A4-2	.|.;.;.;PXK_HUMAN;.;.	N|S	21|267;250;234;234;250;267;250;130;130	ENSP00000418202:K21N|ENSP00000348472:T267S;ENSP00000305045:T250S;ENSP00000373222:T234S;ENSP00000417903:T234S;ENSP00000373221:T250S;ENSP00000417915:T267S;ENSP00000419049:T250S;ENSP00000438356:T130S	ENSP00000418202:K21N|ENSP00000305045:T250S	K|T	+|+	3|1	2|0	PXK|PXK	58356503|58356503	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.991000|0.991000	0.79684|0.79684	2.146000|2.146000	0.42216|0.42216	0.910000|0.910000	0.36722|0.36722	0.421000|0.421000	0.28195|0.28195	AAA|ACA		0.358	PXK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353499.1	NM_017771		32	37	0	0	0	1	0	32	37					T	58381463	A	T	58381463	3	4	435	1	0	0	0	0	1	0	0	0	12849	43	2	5	833	5	PXK	3	58381463	Missense_Mutation	SNP	A	TCGA-XK-AAIW-01A-11D-A41K-08	29826	58381463	139640967	1902	22827											
ACOX2	8309	broad.mit.edu	37	chr3	58508282	58508282	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agcctcgtgctggtcagctcCggattgcgtcagggtctgta	5	11	14	11	3	3	0	2	0	1	0	5	1	4	1	2	3	4	3	2	3	1	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:58508282C>T	ENST00000302819.5	-	12	1864	c.1573G>A	c.(1573-1575)Gga>Aga	p.G525R	ACOX2_ENST00000481527.1_5'UTR|ACOX2_ENST00000459701.2_Missense_Mutation_p.G511R	NM_003500.3	NP_003491.1	Q99424	ACOX2_HUMAN	acyl-CoA oxidase 2, branched chain	525					bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|small molecule metabolic process (GO:0044281)	peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	3alpha,7alpha,12alpha-trihydroxy-5beta-cholestanoyl-CoA 24-hydroxylase activity (GO:0033791)|acyl-CoA dehydrogenase activity (GO:0003995)|acyl-CoA oxidase activity (GO:0003997)|flavin adenine dinucleotide binding (GO:0050660)|pristanoyl-CoA oxidase activity (GO:0016402)|receptor binding (GO:0005102)			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)|skin(3)|urinary_tract(1)	25				BRCA - Breast invasive adenocarcinoma(55;0.000194)|Kidney(10;0.00255)|KIRC - Kidney renal clear cell carcinoma(10;0.00268)|OV - Ovarian serous cystadenocarcinoma(275;0.156)		TGGTCAGCTCCGGATTGCGTC	0.517																																						ENST00000302819.5																			0				breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)|skin(3)|urinary_tract(1)	25						c.(1573-1575)Gga>Aga		acyl-CoA oxidase 2, branched chain							140	120	127					3																	58508282		2203	4300	6503	SO:0001583	missense	8309				bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase	peroxisomal matrix	3alpha,7alpha,12alpha-trihydroxy-5beta-cholestanoyl-CoA 24-hydroxylase activity|acyl-CoA dehydrogenase activity|pristanoyl-CoA oxidase activity	g.chr3:58508282C>T	X95190	CCDS33775.1	3p14.3	2012-07-13	2010-04-30		ENSG00000168306	ENSG00000168306	1.17.99.3		120	protein-coding gene	gene with protein product	"trihydroxycoprostanoyl-CoA oxidase", "3-alpha,7-alpha,12-alpha-trihydroxy-5-beta-cholestanoyl-CoA 24-hydroxylase"	601641	"acyl-Coenzyme A oxidase 2, branched chain"			8943006, 9070889	Standard	NM_003500		Approved	BRCACOX, BRCOX, THCCox	uc003dkl.3	Q99424	OTTHUMG00000159154	ENST00000302819.5:c.1573G>A	3.37:g.58508282C>T	ENSP00000307697:p.Gly525Arg					ACOX2_ENST00000459701.2_Missense_Mutation_p.G511R|ACOX2_ENST00000481527.1_5'UTR	p.G525R	NM_003500.3	NP_003491.1	Q99424	ACOX2_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000194)|Kidney(10;0.00255)|KIRC - Kidney renal clear cell carcinoma(10;0.00268)|OV - Ovarian serous cystadenocarcinoma(275;0.156)	12	1864	-			525					A6NF16|B2R8U5	Missense_Mutation	SNP	ENST00000302819.5	37	c.1573G>A	CCDS33775.1	.	.	.	.	.	.	.	.	.	.	C	16.43	3.122131	0.56613	.	.	ENSG00000168306	ENST00000459701;ENST00000302819	T;T	0.55052	0.54;0.54	4.81	4.81	0.61882	Acyl-CoA oxidase, C-terminal (1);Acyl-CoA dehydrogenase/oxidase C-terminal (2);	0.000000	0.64402	D	0.000003	T	0.66356	0.2781	L	0.52266	1.64	0.80722	D	1	D	0.76494	0.999	D	0.69654	0.965	T	0.61297	-0.7091	10	0.27785	T	0.31	-50.9287	18.7887	0.91965	0.0:1.0:0.0:0.0	.	525	Q99424	ACOX2_HUMAN	R	511;525	ENSP00000418562:G511R;ENSP00000307697:G525R	ENSP00000307697:G525R	G	-	1	0	ACOX2	58483322	0.985000	0.35326	0.175000	0.22980	0.804000	0.45430	5.003000	0.63959	2.605000	0.88082	0.655000	0.94253	GGA		0.517	ACOX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353541.1			18	34	0	0	0	1	0	18	34					T	58508282	C	T	58508282	3	4	435	1	0	0	0	0	1	0	0	0	159	661	23	2	488	2	ACOX2	3	58508282	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	126819	58508282	139514148	1903	22828											
ACOX2	8309	broad.mit.edu	37	chr3	58520136	58520136	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttctaaccaacccaggcgccGagctatcaaccggatgtgga	11	7	10	13	3	2	0	1	0	1	0	2	3	2	2	4	3	4	1	4	3	4	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:58520136G>A	ENST00000302819.5	-	3	565	c.274C>T	c.(274-276)Cgg>Tgg	p.R92W	ACOX2_ENST00000459701.2_Missense_Mutation_p.R92W	NM_003500.3	NP_003491.1	Q99424	ACOX2_HUMAN	acyl-CoA oxidase 2, branched chain	92					bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|small molecule metabolic process (GO:0044281)	peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	3alpha,7alpha,12alpha-trihydroxy-5beta-cholestanoyl-CoA 24-hydroxylase activity (GO:0033791)|acyl-CoA dehydrogenase activity (GO:0003995)|acyl-CoA oxidase activity (GO:0003997)|flavin adenine dinucleotide binding (GO:0050660)|pristanoyl-CoA oxidase activity (GO:0016402)|receptor binding (GO:0005102)			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)|skin(3)|urinary_tract(1)	25				BRCA - Breast invasive adenocarcinoma(55;0.000194)|Kidney(10;0.00255)|KIRC - Kidney renal clear cell carcinoma(10;0.00268)|OV - Ovarian serous cystadenocarcinoma(275;0.156)		CCCAGGCGCCGAGCTATCAAC	0.527																																						ENST00000302819.5																			0				breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)|skin(3)|urinary_tract(1)	25						c.(274-276)Cgg>Tgg		acyl-CoA oxidase 2, branched chain							109	104	106					3																	58520136		2203	4300	6503	SO:0001583	missense	8309				bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase	peroxisomal matrix	3alpha,7alpha,12alpha-trihydroxy-5beta-cholestanoyl-CoA 24-hydroxylase activity|acyl-CoA dehydrogenase activity|pristanoyl-CoA oxidase activity	g.chr3:58520136G>A	X95190	CCDS33775.1	3p14.3	2012-07-13	2010-04-30		ENSG00000168306	ENSG00000168306	1.17.99.3		120	protein-coding gene	gene with protein product	"trihydroxycoprostanoyl-CoA oxidase", "3-alpha,7-alpha,12-alpha-trihydroxy-5-beta-cholestanoyl-CoA 24-hydroxylase"	601641	"acyl-Coenzyme A oxidase 2, branched chain"			8943006, 9070889	Standard	NM_003500		Approved	BRCACOX, BRCOX, THCCox	uc003dkl.3	Q99424	OTTHUMG00000159154	ENST00000302819.5:c.274C>T	3.37:g.58520136G>A	ENSP00000307697:p.Arg92Trp					ACOX2_ENST00000459701.2_Missense_Mutation_p.R92W	p.R92W	NM_003500.3	NP_003491.1	Q99424	ACOX2_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000194)|Kidney(10;0.00255)|KIRC - Kidney renal clear cell carcinoma(10;0.00268)|OV - Ovarian serous cystadenocarcinoma(275;0.156)	3	565	-			92					A6NF16|B2R8U5	Missense_Mutation	SNP	ENST00000302819.5	37	c.274C>T	CCDS33775.1	.	.	.	.	.	.	.	.	.	.	G	11.82	1.752620	0.31046	.	.	ENSG00000168306	ENST00000459701;ENST00000302819;ENST00000474098	T;T;T	0.51817	0.69;0.69;0.69	5.38	0.748	0.18376	Acyl-CoA dehydrogenase/oxidase (1);Acyl-CoA dehydrogenase/oxidase, N-terminal (1);	0.945300	0.08898	N	0.877647	T	0.23572	0.0570	N	0.11560	0.145	0.09310	N	1	B	0.23316	0.083	B	0.16289	0.015	T	0.17992	-1.0351	10	0.40728	T	0.16	-3.0464	2.3567	0.04297	0.1602:0.1008:0.3752:0.3638	.	92	Q99424	ACOX2_HUMAN	W	92	ENSP00000418562:R92W;ENSP00000307697:R92W;ENSP00000419927:R92W	ENSP00000307697:R92W	R	-	1	2	ACOX2	58495176	0.001000	0.12720	0.005000	0.12908	0.003000	0.03518	0.284000	0.18864	0.307000	0.22880	0.655000	0.94253	CGG		0.527	ACOX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353541.1			4	76	0	0	0	1	0	4	76					A	58520136	G	A	58520136	3	1	435	1	0	0	0	0	1	0	0	0	159	1057	37	2	1823	2	ACOX2	3	58520136	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	11854	58520136	139502294	1904	22829											
PTPRG	5793	broad.mit.edu	37	chr3	62153771	62153771	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tggtgtccaagtccgccgtcCgtgactcctggaaccacgac	7	8	11	15	4	0	1	0	1	0	0	4	3	4	2	6	2	1	0	6	2	2	0	rs142366357	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:62153771C>T	ENST00000474889.1	+	8	1344	c.967C>T	c.(967-969)Cgt>Tgt	p.R323C	PTPRG_ENST00000295874.10_Missense_Mutation_p.R323C	NM_002841.3	NP_002832.3	P23470	PTPRG_HUMAN	protein tyrosine phosphatase, receptor type, G	323					brain development (GO:0007420)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of neuron projection development (GO:0010977)|peptidyl-tyrosine dephosphorylation (GO:0035335)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	identical protein binding (GO:0042802)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|liver(2)|lung(15)|ovary(7)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	62				BRCA - Breast invasive adenocarcinoma(55;0.000376)|KIRC - Kidney renal clear cell carcinoma(10;0.0499)|Kidney(10;0.065)		GTCCGCCGTCCGTGACTCCTG	0.522													C|||	14	0.00279553	0.0098	0	5008	,	,		16165	0.001		0	False		,,,				2504	0					ENST00000474889.1																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|liver(2)|lung(15)|ovary(7)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	62						c.(967-969)Cgt>Tgt		protein tyrosine phosphatase, receptor type, G		C	CYS/ARG	18,4388	25.3+/-52.1	0,18,2185	77	75	76		967	4.2	0.9	3	dbSNP_134	76	1,8599	1.2+/-3.3	0,1,4299	yes	missense	PTPRG	NM_002841.3	180	0,19,6484	TT,TC,CC		0.0116,0.4085,0.1461	benign	323/1446	62153771	19,12987	2203	4300	6503	SO:0001583	missense	5793				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	identical protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr3:62153771C>T	L09247	CCDS2895.1	3p21-p14	2013-02-11			ENSG00000144724	ENSG00000144724		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Fibronectin type III domain containing"	9671	protein-coding gene	gene with protein product		176886		PTPG		1711217	Standard	NM_002841		Approved	RPTPG	uc003dlb.3	P23470	OTTHUMG00000158660	ENST00000474889.1:c.967C>T	3.37:g.62153771C>T	ENSP00000418112:p.Arg323Cys					PTPRG_ENST00000295874.10_Missense_Mutation_p.R323C	p.R323C	NM_002841.3	NP_002832.3	P23470	PTPRG_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000376)|KIRC - Kidney renal clear cell carcinoma(10;0.0499)|Kidney(10;0.065)	8	1344	+			323					B2RU12|B7ZLX5|Q15623|Q59EE0|Q68DU5	Missense_Mutation	SNP	ENST00000474889.1	37	c.967C>T	CCDS2895.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	16.42	3.119053	0.56505	0.004085	1.16E-4	ENSG00000144724	ENST00000474889;ENST00000295874	T;T	0.51574	0.71;0.7	5.2	4.2	0.49525	.	0.389105	0.27531	N	0.018944	T	0.28034	0.0691	N	0.14661	0.345	0.48901	D	0.999723	D;P	0.57257	0.979;0.876	B;B	0.39152	0.292;0.153	T	0.16276	-1.0408	10	0.72032	D	0.01	.	10.9026	0.47059	0.4073:0.5927:0.0:0.0	.	323;323	P23470-2;P23470	.;PTPRG_HUMAN	C	323	ENSP00000418112:R323C;ENSP00000295874:R323C	ENSP00000295874:R323C	R	+	1	0	PTPRG	62128811	0.955000	0.32602	0.854000	0.33618	0.597000	0.36814	3.657000	0.54474	2.582000	0.87167	0.655000	0.94253	CGT		0.522	PTPRG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351674.1	NM_002841		16	37	0	0	0	1	0	16	37					T	62153771	C	T	62153771	3	4	435	1	0	0	0	0	1	0	0	0	12802	652	23	2	997	2	PTPRG	3	62153771	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	3633635	62153771	135868659	1905	22830											
PTPRG	5793	broad.mit.edu	37	chr3	62253392	62253392	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gcaaaagcctacattgccacCcaaggacctttgaagtctac	13	8	7	13	0	1	1	0	1	1	0	1	2	1	2	4	1	4	1	4	1	6	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:62253392C>T	ENST00000474889.1	+	19	3149	c.2772C>T	c.(2770-2772)acC>acT	p.T924T	PTPRG-AS1_ENST00000462497.1_RNA|PTPRG-AS1_ENST00000474795.1_RNA|PTPRG-AS1_ENST00000479018.1_RNA|PTPRG-AS1_ENST00000475371.1_RNA|PTPRG-AS1_ENST00000495542.1_RNA|PTPRG_ENST00000295874.10_Silent_p.T895T	NM_002841.3	NP_002832.3	P23470	PTPRG_HUMAN	protein tyrosine phosphatase, receptor type, G	924	Tyrosine-protein phosphatase 1. {ECO:0000255|PROSITE-ProRule:PRU00160}.				brain development (GO:0007420)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of neuron projection development (GO:0010977)|peptidyl-tyrosine dephosphorylation (GO:0035335)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	identical protein binding (GO:0042802)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|liver(2)|lung(15)|ovary(7)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	62				BRCA - Breast invasive adenocarcinoma(55;0.000376)|KIRC - Kidney renal clear cell carcinoma(10;0.0499)|Kidney(10;0.065)		ACATTGCCACCCAAGGACCTT	0.383																																						ENST00000474889.1																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|liver(2)|lung(15)|ovary(7)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	62						c.(2770-2772)acC>acT		protein tyrosine phosphatase, receptor type, G							155	147	150					3																	62253392		2203	4300	6503	SO:0001819	synonymous_variant	5793				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	identical protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr3:62253392C>T	L09247	CCDS2895.1	3p21-p14	2013-02-11			ENSG00000144724	ENSG00000144724		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Fibronectin type III domain containing"	9671	protein-coding gene	gene with protein product		176886		PTPG		1711217	Standard	NM_002841		Approved	RPTPG	uc003dlb.3	P23470	OTTHUMG00000158660	ENST00000474889.1:c.2772C>T	3.37:g.62253392C>T						PTPRG-AS1_ENST00000462497.1_RNA|PTPRG_ENST00000295874.10_Silent_p.T895T|PTPRG-AS1_ENST00000474795.1_RNA|PTPRG-AS1_ENST00000479018.1_RNA|PTPRG-AS1_ENST00000475371.1_RNA|PTPRG-AS1_ENST00000495542.1_RNA	p.T924T	NM_002841.3	NP_002832.3	P23470	PTPRG_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000376)|KIRC - Kidney renal clear cell carcinoma(10;0.0499)|Kidney(10;0.065)	19	3149	+			924			Tyrosine-protein phosphatase 1.		B2RU12|B7ZLX5|Q15623|Q59EE0|Q68DU5	Silent	SNP	ENST00000474889.1	37	c.2772C>T	CCDS2895.1																																																																																				0.383	PTPRG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351674.1	NM_002841		50	65	0	0	0	1	0	50	65					T	62253392	C	T	62253392	2	4	435	1	0	0	0	0	0	0	0	1	12802	610	22	3		3	PTPRG	3	62253392	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	99621	62253392	135769038	1906	22831											
CADPS	8618	broad.mit.edu	37	chr3	62385158	62385158	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cccaccttcactcactgatgCtgtggcttcctccacagtga	7	11	7	16	0	2	2	2	2	0	0	4	2	4	2	4	1	1	2	4	1	0	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:62385158C>T	ENST00000383710.4	-	30	4334	c.3985G>A	c.(3985-3987)Gca>Aca	p.A1329T	CADPS_ENST00000357948.3_Missense_Mutation_p.A1250T|CADPS_ENST00000283269.9_Missense_Mutation_p.A1290T	NM_003716.3	NP_003707.2	Q9ULU8	CAPS1_HUMAN	Ca++-dependent secretion activator	1329	Mediates targeting and association with DCVs. {ECO:0000250}.				catecholamine secretion (GO:0050432)|exocytosis (GO:0006887)|protein transport (GO:0015031)|synaptic vesicle priming (GO:0016082)|vesicle organization (GO:0016050)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|membrane (GO:0016020)|synapse (GO:0045202)	lipid binding (GO:0008289)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)			breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2)	92		Lung SC(41;0.0452)		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)		CTCACTGATGCTGTGGCTTCC	0.517																																						ENST00000383710.4																			0				breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2)	92						c.(3985-3987)Gca>Aca		Ca++-dependent secretion activator							201	175	184					3																	62385158		2203	4300	6503	SO:0001583	missense	8618				exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|cytosol|synapse	lipid binding|metal ion binding	g.chr3:62385158C>T	U36448	CCDS2898.1, CCDS2899.1, CCDS46858.1	3p21.1	2013-01-10	2008-08-28		ENSG00000163618	ENSG00000163618		"Pleckstrin homology (PH) domain containing"	1426	protein-coding gene	gene with protein product		604667				1516133	Standard	NM_183393		Approved	CAPS, KIAA1121, CAPS1	uc003dll.2	Q9ULU8	OTTHUMG00000158651	ENST00000383710.4:c.3985G>A	3.37:g.62385158C>T	ENSP00000373215:p.Ala1329Thr					CADPS_ENST00000283269.9_Missense_Mutation_p.A1290T|CADPS_ENST00000357948.3_Missense_Mutation_p.A1250T	p.A1329T	NM_003716.3	NP_003707.2	Q9ULU8	CAPS1_HUMAN		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)	30	4334	-		Lung SC(41;0.0452)	1329			Mediates targeting and association with DCVs (By similarity).		A6NF60|Q13339|Q6GQQ6|Q8N2Z5|Q8N3M7|Q8NFR0|Q96BC2	Missense_Mutation	SNP	ENST00000383710.4	37	c.3985G>A	CCDS46858.1	.	.	.	.	.	.	.	.	.	.	C	28.1	4.890659	0.91889	.	.	ENSG00000163618	ENST00000383709;ENST00000383710;ENST00000357948;ENST00000283269	T;T;T	0.34072	1.38;1.38;1.38	5.86	5.86	0.93980	.	0.000000	0.85682	D	0.000000	T	0.60702	0.2289	M	0.63843	1.955	0.80722	D	1	P;D;D;P	0.71674	0.837;0.998;0.997;0.917	P;D;D;P	0.78314	0.562;0.991;0.989;0.713	T	0.59225	-0.7494	10	0.62326	D	0.03	.	20.2019	0.98263	0.0:1.0:0.0:0.0	.	1250;1290;1329;1334	Q9ULU8-2;Q9ULU8-3;Q9ULU8;Q9ULU8-4	.;.;CAPS1_HUMAN;.	T	1335;1329;1250;1290	ENSP00000373215:A1329T;ENSP00000350632:A1250T;ENSP00000283269:A1290T	ENSP00000283269:A1290T	A	-	1	0	CADPS	62360198	1.000000	0.71417	0.218000	0.23776	0.989000	0.77384	7.487000	0.81328	2.776000	0.95493	0.655000	0.94253	GCA		0.517	CADPS-013	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351951.5	NM_003716, NM_183393, NM_183394		27	66	0	0	0	1	0	27	66					T	62385158	C	T	62385158	3	4	435	1	0	0	0	0	1	0	0	0	2570	797	28	3	80	3	CADPS	3	62385158	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	131766	62385158	135637272	1907	22832											
CADPS	8618	broad.mit.edu	37	chr3	62518602	62518602	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ctgtagtgaagaagggtgggGtcgatcatggcgccattttc	8	11	15	7	2	1	2	1	1	0	1	3	3	1	2	1	4	0	1	1	4	3	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:62518602G>A	ENST00000383710.4	-	13	2584	c.2235C>T	c.(2233-2235)gaC>gaT	p.D745D	CADPS_ENST00000357948.3_Silent_p.D728D|CADPS_ENST00000283269.9_Silent_p.D745D	NM_003716.3	NP_003707.2	Q9ULU8	CAPS1_HUMAN	Ca++-dependent secretion activator	745					catecholamine secretion (GO:0050432)|exocytosis (GO:0006887)|protein transport (GO:0015031)|synaptic vesicle priming (GO:0016082)|vesicle organization (GO:0016050)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|membrane (GO:0016020)|synapse (GO:0045202)	lipid binding (GO:0008289)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)			breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2)	92		Lung SC(41;0.0452)		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)		GAAGGGTGGGGTCGATCATGG	0.522																																						ENST00000383710.4																			0				breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2)	92						c.(2233-2235)gaC>gaT		Ca++-dependent secretion activator							148	126	134					3																	62518602		2203	4300	6503	SO:0001819	synonymous_variant	8618				exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|cytosol|synapse	lipid binding|metal ion binding	g.chr3:62518602G>A	U36448	CCDS2898.1, CCDS2899.1, CCDS46858.1	3p21.1	2013-01-10	2008-08-28		ENSG00000163618	ENSG00000163618		"Pleckstrin homology (PH) domain containing"	1426	protein-coding gene	gene with protein product		604667				1516133	Standard	NM_183393		Approved	CAPS, KIAA1121, CAPS1	uc003dll.2	Q9ULU8	OTTHUMG00000158651	ENST00000383710.4:c.2235C>T	3.37:g.62518602G>A						CADPS_ENST00000283269.9_Silent_p.D745D|CADPS_ENST00000357948.3_Silent_p.D728D	p.D745D	NM_003716.3	NP_003707.2	Q9ULU8	CAPS1_HUMAN		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)	13	2584	-		Lung SC(41;0.0452)	745					A6NF60|Q13339|Q6GQQ6|Q8N2Z5|Q8N3M7|Q8NFR0|Q96BC2	Silent	SNP	ENST00000383710.4	37	c.2235C>T	CCDS46858.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	10.08|10.08	1.253505|1.253505	0.22965|0.22965	.|.	.|.	ENSG00000163618|ENSG00000163618	ENST00000491424|ENST00000468271;ENST00000478434	.|.	.|.	.|.	5.77|5.77	4.9|4.9	0.64082|0.64082	.|.	.|.	.|.	.|.	.|.	T|T	0.70762|0.70762	0.3261|0.3261	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.70185|0.70185	-0.4941|-0.4941	4|4	.|.	.|.	.|.	.|.	15.0108|15.0108	0.71547|0.71547	0.0686:0.0:0.9314:0.0|0.0686:0.0:0.9314:0.0	.|.	.|.	.|.	.|.	S|I	52|90;176	.|.	.|.	P|T	-|-	1|2	0|0	CADPS|CADPS	62493642|62493642	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.972000|0.972000	0.66771|0.66771	2.971000|2.971000	0.49248|0.49248	1.444000|1.444000	0.47605|0.47605	0.557000|0.557000	0.71058|0.71058	CCC|ACC		0.522	CADPS-013	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351951.5	NM_003716, NM_183393, NM_183394		6	44	0	0	0	1	0	6	44					A	62518602	G	A	62518602	2	1	435	1	0	0	0	0	0	0	0	1	2570	1252	44	3		3	CADPS	3	62518602	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	133444	62518602	135503828	1908	22833											
CADPS	8618	broad.mit.edu	37	chr3	62631466	62631466	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccacctccattgtgcaatatAcgatgcgatttggagccaaa	12	10	8	11	2	0	0	0	0	0	0	1	3	1	1	4	1	4	1	4	1	4	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:62631466A>G	ENST00000383710.4	-	6	1605	c.1256T>C	c.(1255-1257)gTa>gCa	p.V419A	CADPS_ENST00000490353.2_Missense_Mutation_p.V419A|CADPS_ENST00000357948.3_Missense_Mutation_p.V419A|CADPS_ENST00000283269.9_Missense_Mutation_p.V419A	NM_003716.3	NP_003707.2	Q9ULU8	CAPS1_HUMAN	Ca++-dependent secretion activator	419	C2.				catecholamine secretion (GO:0050432)|exocytosis (GO:0006887)|protein transport (GO:0015031)|synaptic vesicle priming (GO:0016082)|vesicle organization (GO:0016050)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|membrane (GO:0016020)|synapse (GO:0045202)	lipid binding (GO:0008289)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)			breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2)	92		Lung SC(41;0.0452)		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)		TGTGCAATATACGATGCGATT	0.458																																						ENST00000383710.4																			0				breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2)	92						c.(1255-1257)gTa>gCa		Ca++-dependent secretion activator							187	177	181					3																	62631466		2203	4300	6503	SO:0001583	missense	8618				exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|cytosol|synapse	lipid binding|metal ion binding	g.chr3:62631466A>G	U36448	CCDS2898.1, CCDS2899.1, CCDS46858.1	3p21.1	2013-01-10	2008-08-28		ENSG00000163618	ENSG00000163618		"Pleckstrin homology (PH) domain containing"	1426	protein-coding gene	gene with protein product		604667				1516133	Standard	NM_183393		Approved	CAPS, KIAA1121, CAPS1	uc003dll.2	Q9ULU8	OTTHUMG00000158651	ENST00000383710.4:c.1256T>C	3.37:g.62631466A>G	ENSP00000373215:p.Val419Ala					CADPS_ENST00000283269.9_Missense_Mutation_p.V419A|CADPS_ENST00000357948.3_Missense_Mutation_p.V419A|CADPS_ENST00000490353.2_Missense_Mutation_p.V419A	p.V419A	NM_003716.3	NP_003707.2	Q9ULU8	CAPS1_HUMAN		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)	6	1605	-		Lung SC(41;0.0452)	419			C2.		A6NF60|Q13339|Q6GQQ6|Q8N2Z5|Q8N3M7|Q8NFR0|Q96BC2	Missense_Mutation	SNP	ENST00000383710.4	37	c.1256T>C	CCDS46858.1	.	.	.	.	.	.	.	.	.	.	A	24.7	4.563876	0.86335	.	.	ENSG00000163618	ENST00000383709;ENST00000383710;ENST00000357948;ENST00000283269;ENST00000490353	T;T;T;T	0.71103	-0.54;-0.54;-0.54;0.25	5.44	5.44	0.79542	C2 calcium-dependent membrane targeting (1);	0.000000	0.85682	D	0.000000	T	0.82171	0.4979	M	0.68317	2.08	0.80722	D	1	D;P;P	0.58268	0.982;0.954;0.622	P;D;B	0.67900	0.792;0.954;0.137	D	0.84305	0.0507	10	0.87932	D	0	.	15.7937	0.78388	1.0:0.0:0.0:0.0	.	419;419;419	Q9ULU8-2;Q9ULU8-3;Q9ULU8	.;.;CAPS1_HUMAN	A	419	ENSP00000373215:V419A;ENSP00000350632:V419A;ENSP00000283269:V419A;ENSP00000418736:V419A	ENSP00000283269:V419A	V	-	2	0	CADPS	62606506	1.000000	0.71417	0.785000	0.31869	0.601000	0.36947	9.339000	0.96797	2.188000	0.69820	0.533000	0.62120	GTA		0.458	CADPS-013	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351951.5	NM_003716, NM_183393, NM_183394		4	110	0	0	0	1	0	4	110					G	62631466	A	G	62631466	3	3	435	1	0	0	0	0	1	0	0	0	2570	391	14	4	2978	4	CADPS	3	62631466	Missense_Mutation	SNP	A	TCGA-XK-AAIW-01A-11D-A41K-08	112864	62631466	135390964	1909	22834											
SYNPR	132204	broad.mit.edu	37	chr3	63429127	63429127	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcaattcttttgtaaatgtgTatggtgatatttgctccggt	8	19	9	5	1	2	1	1	1	1	0	3	1	3	1	1	2	1	3	1	2	5	7			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:63429127T>C	ENST00000295894.5	+	1	375	c.6T>C	c.(4-6)tgT>tgC	p.C2C	SYNPR-AS1_ENST00000488201.1_RNA|SYNPR_ENST00000478744.1_3'UTR|SYNPR_ENST00000460711.1_Silent_p.C2C|SYNPR_ENST00000479198.1_Silent_p.C2C|SYNPR_ENST00000478300.1_Intron|SYNPR_ENST00000465156.1_Silent_p.C2C	NM_144642.4	NP_653243.1	Q8TBG9	SYNPR_HUMAN	synaptoporin	2	MARVEL. {ECO:0000255|PROSITE- ProRule:PRU00581}.					cell junction (GO:0030054)|integral component of synaptic vesicle membrane (GO:0030285)|neuron projection (GO:0043005)	transporter activity (GO:0005215)			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)	8				BRCA - Breast invasive adenocarcinoma(55;0.000918)|KIRC - Kidney renal clear cell carcinoma(15;0.0658)|Kidney(15;0.0904)		TGTAAATGTGTATGGTGATAT	0.403																																					NSCLC(29;1052 1116 20025 32519)	ENST00000295894.5																			0				NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)	8						c.(4-6)tgT>tgC		synaptoporin							212	193	199					3																	63429127		1896	4111	6007	SO:0001819	synonymous_variant	132204					cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	transporter activity	g.chr3:63429127T>C	AF411860	CCDS46859.1, CCDS46860.1	3p14.3	2011-07-28			ENSG00000163630	ENSG00000163630			16507	protein-coding gene	gene with protein product						8034131, 12974474	Standard	NM_144642		Approved	MGC26651, SPO	uc003dlp.3	Q8TBG9	OTTHUMG00000158699	ENST00000295894.5:c.6T>C	3.37:g.63429127T>C						SYNPR_ENST00000479198.1_Silent_p.C2C|SYNPR-AS1_ENST00000488201.1_RNA|SYNPR_ENST00000478744.1_3'UTR|SYNPR_ENST00000465156.1_Silent_p.C2C|SYNPR_ENST00000478300.1_Intron|SYNPR_ENST00000460711.1_Silent_p.C2C	p.C2C	NM_144642.4	NP_653243.1	Q8TBG9	SYNPR_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000918)|KIRC - Kidney renal clear cell carcinoma(15;0.0658)|Kidney(15;0.0904)	1	375	+			2			MARVEL.		B2R675|G5E9W4	Silent	SNP	ENST00000295894.5	37	c.6T>C	CCDS46860.1																																																																																				0.403	SYNPR-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000351787.1			3	2	0	0	0	1	0	3	2					C	63429127	T	C	63429127	2	2	435	1	0	0	0	0	0	0	0	1	15456	1644	57	4		4	SYNPR	3	63429127	Silent	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	797661	63429127	134593303	1910	22835											
THOC7	80145	broad.mit.edu	37	chr3	63820887	63820887	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagaacatgaaactgtttccGtctcaattccagctgtgtta	12	13	7	9	1	1	2	1	1	1	1	4	2	3	2	2	0	3	3	2	0	5	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:63820887G>A	ENST00000295899.5	-	7	602	c.490C>T	c.(490-492)Cgg>Tgg	p.R164W	C3orf49_ENST00000295896.8_Intron|THOC7_ENST00000498422.1_5'Flank	NM_025075.2	NP_079351.2	Q6I9Y2	THOC7_HUMAN	THO complex 7 homolog (Drosophila)	164	Interaction with NIF3L1.				mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|RNA splicing (GO:0008380)|viral mRNA export from host cell nucleus (GO:0046784)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|THO complex (GO:0000347)|THO complex part of transcription export complex (GO:0000445)|transcription export complex (GO:0000346)	RNA binding (GO:0003723)			central_nervous_system(1)|large_intestine(1)|ovary(1)|pancreas(1)	4				BRCA - Breast invasive adenocarcinoma(55;0.000439)|Kidney(15;0.00194)|KIRC - Kidney renal clear cell carcinoma(15;0.00218)		AACTGTTTCCGTCTCAATTCC	0.308																																					Colon(48;665 1127 6720 18651)	ENST00000295899.5																			0				central_nervous_system(1)|large_intestine(1)|ovary(1)|pancreas(1)	4						c.(490-492)Cgg>Tgg		THO complex 7 homolog (Drosophila)							59	59	59					3																	63820887		2203	4299	6502	SO:0001583	missense	80145				intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing	cytoplasm|THO complex part of transcription export complex	protein binding|RNA binding	g.chr3:63820887G>A	BC020599	CCDS2900.1, CCDS74957.1	3p14.1	2013-02-11			ENSG00000163634	ENSG00000163634		"THO complex subunits"	29874	protein-coding gene	gene with protein product	"Ngg1 interacting factor 3 like 1 binding protein 1", "functional spliceosome-associated protein 24"	611965				12951069	Standard	NM_001285404		Approved	NIF3L1BP1, FLJ23445, fSAP24	uc003dlt.4	Q6I9Y2	OTTHUMG00000158767	ENST00000295899.5:c.490C>T	3.37:g.63820887G>A	ENSP00000295899:p.Arg164Trp					C3orf49_ENST00000295896.8_Intron	p.R164W	NM_025075.2	NP_079351.2	Q6I9Y2	THOC7_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000439)|Kidney(15;0.00194)|KIRC - Kidney renal clear cell carcinoma(15;0.00218)	7	602	-			164			Interaction with NIF3L1.		Q6P1L3|Q8WUF2|Q9H5H0	Missense_Mutation	SNP	ENST00000295899.5	37	c.490C>T	CCDS2900.1	.	.	.	.	.	.	.	.	.	.	G	16.67	3.187236	0.57909	.	.	ENSG00000163634	ENST00000295899	.	.	.	6.01	4.21	0.49690	.	0.110458	0.64402	D	0.000010	T	0.56761	0.2007	M	0.67397	2.05	0.45477	D	0.998441	P	0.50617	0.937	B	0.40565	0.333	T	0.63924	-0.6527	9	0.87932	D	0	-4.3154	15.1417	0.72615	0.0:0.0:0.704:0.296	.	164	Q6I9Y2	THOC7_HUMAN	W	164	.	ENSP00000295899:R164W	R	-	1	2	THOC7	63795927	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.789000	0.47813	0.867000	0.35654	0.650000	0.86243	CGG		0.308	THOC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352096.1	NM_025075		18	50	0	0	0	1	0	18	50					A	63820887	G	A	63820887	3	1	435	1	0	0	0	0	1	0	0	0	15867	1144	40	1	132	1	THOC7	3	63820887	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	391760	63820887	134201543	1911	22836											
THOC7	80145	broad.mit.edu	37	chr3	63823673	63823673	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttggcgattttttcgtattcGttttgcttgaagaatttgct	6	21	9	5	3	0	2	0	1	0	1	2	3	0	2	0	1	2	4	0	1	3	10			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:63823673G>A	ENST00000295899.5	-	4	443	c.331C>T	c.(331-333)Cga>Tga	p.R111*	C3orf49_ENST00000295896.8_Intron|THOC7_ENST00000498422.1_5'UTR	NM_025075.2	NP_079351.2	Q6I9Y2	THOC7_HUMAN	THO complex 7 homolog (Drosophila)	111	Interaction with NIF3L1.|Interaction with THOC5.				mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|RNA splicing (GO:0008380)|viral mRNA export from host cell nucleus (GO:0046784)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|THO complex (GO:0000347)|THO complex part of transcription export complex (GO:0000445)|transcription export complex (GO:0000346)	RNA binding (GO:0003723)			central_nervous_system(1)|large_intestine(1)|ovary(1)|pancreas(1)	4				BRCA - Breast invasive adenocarcinoma(55;0.000439)|Kidney(15;0.00194)|KIRC - Kidney renal clear cell carcinoma(15;0.00218)		TTTCGTATTCGTTTTGCTTGA	0.333																																					Colon(48;665 1127 6720 18651)	ENST00000295899.5																			0				central_nervous_system(1)|large_intestine(1)|ovary(1)|pancreas(1)	4						c.(331-333)Cga>Tga		THO complex 7 homolog (Drosophila)							179	167	171					3																	63823673		2203	4299	6502	SO:0001587	stop_gained	80145				intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing	cytoplasm|THO complex part of transcription export complex	protein binding|RNA binding	g.chr3:63823673G>A	BC020599	CCDS2900.1, CCDS74957.1	3p14.1	2013-02-11			ENSG00000163634	ENSG00000163634		"THO complex subunits"	29874	protein-coding gene	gene with protein product	"Ngg1 interacting factor 3 like 1 binding protein 1", "functional spliceosome-associated protein 24"	611965				12951069	Standard	NM_001285404		Approved	NIF3L1BP1, FLJ23445, fSAP24	uc003dlt.4	Q6I9Y2	OTTHUMG00000158767	ENST00000295899.5:c.331C>T	3.37:g.63823673G>A	ENSP00000295899:p.Arg111*					C3orf49_ENST00000295896.8_Intron|THOC7_ENST00000498422.1_5'UTR	p.R111*	NM_025075.2	NP_079351.2	Q6I9Y2	THOC7_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000439)|Kidney(15;0.00194)|KIRC - Kidney renal clear cell carcinoma(15;0.00218)	4	443	-			111			Interaction with NIF3L1.|Interaction with THOC5.		Q6P1L3|Q8WUF2|Q9H5H0	Nonsense_Mutation	SNP	ENST00000295899.5	37	c.331C>T	CCDS2900.1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.453533	0.84209	.	.	ENSG00000163634	ENST00000295899	.	.	.	6.07	5.2	0.72013	.	0.053637	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.08381	T	0.77	-17.1899	14.7329	0.69397	0.0:0.0:0.6864:0.3136	.	.	.	.	X	111	.	ENSP00000295899:R111X	R	-	1	2	THOC7	63798713	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.599000	0.54045	1.566000	0.49654	0.655000	0.94253	CGA		0.333	THOC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352096.1	NM_025075		34	52	0	0	0	1	0	34	52					A	63823673	G	A	63823673	4	1	435	1	0	0	0	0	0	1	0	0	15867	1153	40	1	303	1	THOC7	3	63823673	Nonsense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	2786	63823673	134198757	1912	22837											
PRICKLE2	166336	broad.mit.edu	37	chr3	64085073	64085073	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatgctctcctggaagctcCgctggcgcataaattggtca	8	10	10	13	2	2	0	1	0	1	0	4	1	3	1	3	3	2	4	3	3	3	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:64085073C>T	ENST00000295902.6	-	8	2774	c.2189G>A	c.(2188-2190)cGg>cAg	p.R730Q	RP11-129B22.1_ENST00000482609.1_RNA|PRICKLE2_ENST00000564377.1_Missense_Mutation_p.R786Q|PRICKLE2-AS1_ENST00000476308.1_RNA|PRICKLE2-AS1_ENST00000460946.1_RNA	NM_198859.3	NP_942559.1	Q7Z3G6	PRIC2_HUMAN	prickle homolog 2 (Drosophila)	730	Arg-rich.				establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|neuron projection development (GO:0031175)	apicolateral plasma membrane (GO:0016327)|cytoplasm (GO:0005737)|lateral plasma membrane (GO:0016328)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|large_intestine(9)|liver(1)|lung(10)|ovary(4)|prostate(2)|skin(2)|stomach(1)	32		Lung NSC(201;0.136)		BRCA - Breast invasive adenocarcinoma(55;0.000971)|KIRC - Kidney renal clear cell carcinoma(15;0.00443)|Kidney(15;0.00497)		CTGGAAGCTCCGCTGGCGCAT	0.617																																						ENST00000295902.6																			0				breast(2)|endometrium(1)|large_intestine(9)|liver(1)|lung(10)|ovary(4)|prostate(2)|skin(2)|stomach(1)	32						c.(2188-2190)cGg>cAg		prickle homolog 2 (Drosophila)							46	50	49					3																	64085073		2203	4300	6503	SO:0001583	missense	166336					cytoplasm|nuclear membrane	zinc ion binding	g.chr3:64085073C>T	AK127839	CCDS2902.1	3p14.3	2006-09-12	2006-09-12		ENSG00000163637	ENSG00000163637			20340	protein-coding gene	gene with protein product		608501	"prickle-like 2 (Drosophila)"			12525887	Standard	NM_198859		Approved	DKFZp686D143	uc003dmf.3	Q7Z3G6	OTTHUMG00000158789	ENST00000295902.6:c.2189G>A	3.37:g.64085073C>T	ENSP00000295902:p.Arg730Gln					RP11-129B22.1_ENST00000482609.1_RNA|PRICKLE2_ENST00000564377.1_Missense_Mutation_p.R786Q|PRICKLE2-AS1_ENST00000476308.1_RNA	p.R730Q	NM_198859.3	NP_942559.1	Q7Z3G6	PRIC2_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000971)|KIRC - Kidney renal clear cell carcinoma(15;0.00443)|Kidney(15;0.00497)	8	2774	-		Lung NSC(201;0.136)	730			Arg-rich.		Q0VF44	Missense_Mutation	SNP	ENST00000295902.6	37	c.2189G>A	CCDS2902.1	.	.	.	.	.	.	.	.	.	.	C	17.56	3.420662	0.62622	.	.	ENSG00000163637	ENST00000295902	D	0.86097	-2.07	5.33	5.33	0.75918	.	0.000000	0.64402	D	0.000001	T	0.82199	0.4985	L	0.59436	1.845	0.54753	D	0.999981	P	0.49185	0.92	B	0.35240	0.198	D	0.85480	0.1178	10	0.62326	D	0.03	-39.0594	19.3767	0.94512	0.0:1.0:0.0:0.0	.	730	Q7Z3G6	PRIC2_HUMAN	Q	730	ENSP00000295902:R730Q	ENSP00000295902:R730Q	R	-	2	0	PRICKLE2	64060113	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.602000	0.61098	2.651000	0.90000	0.591000	0.81541	CGG		0.617	PRICKLE2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000352219.1	NM_198859		8	35	0	0	0	1	0	8	35					T	64085073	C	T	64085073	3	4	435	1	0	0	0	0	1	0	0	0	12487	652	23	2	349	2	PRICKLE2	3	64085073	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	261400	64085073	133937357	1913	22838											
PRICKLE2	166336	broad.mit.edu	37	chr3	64085459	64085459	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aggctgcgaactgactctgcGctccggaactgcatggacga	9	7	13	12	4	1	1	0	1	1	0	2	5	2	3	1	3	5	3	1	3	2	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:64085459G>A	ENST00000295902.6	-	8	2388	c.1803C>T	c.(1801-1803)agC>agT	p.S601S	RP11-129B22.1_ENST00000482609.1_RNA|PRICKLE2_ENST00000564377.1_Silent_p.S657S|PRICKLE2-AS1_ENST00000476308.1_RNA|PRICKLE2-AS1_ENST00000460946.1_RNA	NM_198859.3	NP_942559.1	Q7Z3G6	PRIC2_HUMAN	prickle homolog 2 (Drosophila)	601					establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|neuron projection development (GO:0031175)	apicolateral plasma membrane (GO:0016327)|cytoplasm (GO:0005737)|lateral plasma membrane (GO:0016328)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|large_intestine(9)|liver(1)|lung(10)|ovary(4)|prostate(2)|skin(2)|stomach(1)	32		Lung NSC(201;0.136)		BRCA - Breast invasive adenocarcinoma(55;0.000971)|KIRC - Kidney renal clear cell carcinoma(15;0.00443)|Kidney(15;0.00497)		CTGACTCTGCGCTCCGGAACT	0.552																																						ENST00000295902.6																			0				breast(2)|endometrium(1)|large_intestine(9)|liver(1)|lung(10)|ovary(4)|prostate(2)|skin(2)|stomach(1)	32						c.(1801-1803)agC>agT		prickle homolog 2 (Drosophila)							132	129	130					3																	64085459		2203	4300	6503	SO:0001819	synonymous_variant	166336					cytoplasm|nuclear membrane	zinc ion binding	g.chr3:64085459G>A	AK127839	CCDS2902.1	3p14.3	2006-09-12	2006-09-12		ENSG00000163637	ENSG00000163637			20340	protein-coding gene	gene with protein product		608501	"prickle-like 2 (Drosophila)"			12525887	Standard	NM_198859		Approved	DKFZp686D143	uc003dmf.3	Q7Z3G6	OTTHUMG00000158789	ENST00000295902.6:c.1803C>T	3.37:g.64085459G>A						RP11-129B22.1_ENST00000482609.1_RNA|PRICKLE2_ENST00000564377.1_Silent_p.S657S|PRICKLE2-AS1_ENST00000476308.1_RNA|PRICKLE2-AS1_ENST00000460946.1_RNA	p.S601S	NM_198859.3	NP_942559.1	Q7Z3G6	PRIC2_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000971)|KIRC - Kidney renal clear cell carcinoma(15;0.00443)|Kidney(15;0.00497)	8	2388	-		Lung NSC(201;0.136)	601					Q0VF44	Silent	SNP	ENST00000295902.6	37	c.1803C>T	CCDS2902.1																																																																																				0.552	PRICKLE2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000352219.1	NM_198859		28	61	0	0	0	1	0	28	61					A	64085459	G	A	64085459	2	1	435	1	0	0	0	0	0	0	0	1	12487	1078	38	1		1	PRICKLE2	3	64085459	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	386	64085459	133936971	1914	22839											
PRICKLE2	166336	broad.mit.edu	37	chr3	64133336	64133336	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaaacaggtctcagtggcaTgccagtgttggccatcatag	11	9	12	9	0	2	1	2	0	1	1	3	1	2	1	2	3	2	2	2	3	2	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:64133336T>C	ENST00000295902.6	-	7	1415	c.830A>G	c.(829-831)cAt>cGt	p.H277R	PRICKLE2_ENST00000564377.1_Missense_Mutation_p.H333R	NM_198859.3	NP_942559.1	Q7Z3G6	PRIC2_HUMAN	prickle homolog 2 (Drosophila)	277	LIM zinc-binding 3. {ECO:0000255|PROSITE- ProRule:PRU00125}.				establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|neuron projection development (GO:0031175)	apicolateral plasma membrane (GO:0016327)|cytoplasm (GO:0005737)|lateral plasma membrane (GO:0016328)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|large_intestine(9)|liver(1)|lung(10)|ovary(4)|prostate(2)|skin(2)|stomach(1)	32		Lung NSC(201;0.136)		BRCA - Breast invasive adenocarcinoma(55;0.000971)|KIRC - Kidney renal clear cell carcinoma(15;0.00443)|Kidney(15;0.00497)		CTCAGTGGCATGCCAGTGTTG	0.542																																						ENST00000295902.6																			0				breast(2)|endometrium(1)|large_intestine(9)|liver(1)|lung(10)|ovary(4)|prostate(2)|skin(2)|stomach(1)	32						c.(829-831)cAt>cGt		prickle homolog 2 (Drosophila)							75	76	76					3																	64133336		2203	4300	6503	SO:0001583	missense	166336					cytoplasm|nuclear membrane	zinc ion binding	g.chr3:64133336T>C	AK127839	CCDS2902.1	3p14.3	2006-09-12	2006-09-12		ENSG00000163637	ENSG00000163637			20340	protein-coding gene	gene with protein product		608501	"prickle-like 2 (Drosophila)"			12525887	Standard	NM_198859		Approved	DKFZp686D143	uc003dmf.3	Q7Z3G6	OTTHUMG00000158789	ENST00000295902.6:c.830A>G	3.37:g.64133336T>C	ENSP00000295902:p.His277Arg					PRICKLE2_ENST00000564377.1_Missense_Mutation_p.H333R	p.H277R	NM_198859.3	NP_942559.1	Q7Z3G6	PRIC2_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000971)|KIRC - Kidney renal clear cell carcinoma(15;0.00443)|Kidney(15;0.00497)	7	1415	-		Lung NSC(201;0.136)	277			LIM zinc-binding 3.		Q0VF44	Missense_Mutation	SNP	ENST00000295902.6	37	c.830A>G	CCDS2902.1	.	.	.	.	.	.	.	.	.	.	T	16.27	3.076204	0.55646	.	.	ENSG00000163637	ENST00000295902	D	0.96334	-3.98	6.08	6.08	0.98989	Zinc finger, LIM-type (4);	0.000000	0.85682	D	0.000000	D	0.99036	0.9670	H	0.99026	4.405	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99174	1.0865	10	0.87932	D	0	-35.3353	16.6438	0.85155	0.0:0.0:0.0:1.0	.	277	Q7Z3G6	PRIC2_HUMAN	R	277	ENSP00000295902:H277R	ENSP00000295902:H277R	H	-	2	0	PRICKLE2	64108376	1.000000	0.71417	0.966000	0.40874	0.185000	0.23345	8.040000	0.89188	2.333000	0.79357	0.533000	0.62120	CAT		0.542	PRICKLE2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000352219.1	NM_198859		27	42	0	0	0	1	0	27	42					C	64133336	T	C	64133336	3	2	435	1	0	0	0	0	1	0	0	0	12487	1464	51	4	1712	4	PRICKLE2	3	64133336	Missense_Mutation	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	47877	64133336	133889094	1915	22840											
ADAMTS9	56999	broad.mit.edu	37	chr3	64527080	64527080	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggtggtcagagtgcatccccGcacagaatatctgaaagacc	12	7	11	11	1	2	4	1	1	1	3	3	4	3	4	3	2	1	2	3	2	3	1	rs200398762		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:64527080G>A	ENST00000498707.1	-	35	5645	c.5303C>T	c.(5302-5304)gCg>gTg	p.A1768V	ADAMTS9_ENST00000295903.4_Missense_Mutation_p.A1740V	NM_182920.1	NP_891550.1	Q9P2N4	ATS9_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 9	1768	GON. {ECO:0000255|PROSITE- ProRule:PRU00383}.				glycoprotein catabolic process (GO:0006516)|multicellular organismal development (GO:0007275)|positive regulation of melanocyte differentiation (GO:0045636)|protein transport (GO:0015031)|proteolysis (GO:0006508)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	100		Lung NSC(201;0.00682)		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)		GTGCATCCCCGCACAGAATAT	0.463																																						ENST00000498707.1																			0				breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	100						c.(5302-5304)gCg>gTg		ADAM metallopeptidase with thrombospondin type 1 motif, 9		G	VAL/ALA	0,4406		0,0,2203	126	131	129		5303	5.8	1	3		129	1,8599	1.2+/-3.3	0,1,4299	yes	missense	ADAMTS9	NM_182920.1	64	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	1768/1936	64527080	1,13005	2203	4300	6503	SO:0001583	missense	56999				glycoprotein catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr3:64527080G>A	AF261918	CCDS2903.1	3p14.1	2008-05-15	2005-08-19		ENSG00000163638	ENSG00000163638		"ADAM metallopeptidases with thrombospondin type 1 motif"	13202	protein-coding gene	gene with protein product		605421	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 9"			10936055	Standard	NM_182920		Approved	KIAA1312	uc003dmg.3	Q9P2N4	OTTHUMG00000158722	ENST00000498707.1:c.5303C>T	3.37:g.64527080G>A	ENSP00000418735:p.Ala1768Val					ADAMTS9_ENST00000295903.4_Missense_Mutation_p.A1740V	p.A1768V	NM_182920.1	NP_891550.1	Q9P2N4	ATS9_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)	35	5645	-		Lung NSC(201;0.00682)	1768			GON.		A1L4L0|B7ZVX9|B9ZVN0|Q9NR29	Missense_Mutation	SNP	ENST00000498707.1	37	c.5303C>T	CCDS2903.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	33|33	5.225799|5.225799	0.95173|0.95173	0.0|0.0	1.16E-4|1.16E-4	ENSG00000163638|ENSG00000163638	ENST00000295903;ENST00000498707|ENST00000481060	T;T|.	0.18810|.	2.19;2.19|.	5.75|5.75	5.75|5.75	0.90469|0.90469	Peptidase M12B, GON-ADAMTSs (2);|.	0.061316|.	0.64402|.	D|.	0.000005|.	T|T	0.76666|0.76666	0.4019|0.4019	M|M	0.69823|0.69823	2.125|2.125	0.80722|0.80722	D|D	1|1	P;P|.	0.41345|.	0.746;0.746|.	P;P|.	0.46850|.	0.529;0.473|.	T|T	0.74393|0.74393	-0.3680|-0.3680	10|5	0.41790|.	T|.	0.15|.	.|.	19.942|19.942	0.97168|0.97168	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	1740;1768|.	B7ZVX9;Q9P2N4|.	.;ATS9_HUMAN|.	V|W	1740;1768|824	ENSP00000295903:A1740V;ENSP00000418735:A1768V|.	ENSP00000295903:A1740V|.	A|R	-|-	2|1	0|2	ADAMTS9|ADAMTS9	64502120|64502120	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.897000|0.897000	0.52465|0.52465	7.126000|7.126000	0.77201|0.77201	2.714000|2.714000	0.92807|0.92807	0.561000|0.561000	0.74099|0.74099	GCG|CGG		0.463	ADAMTS9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351891.1			30	44	0	0	0	1	0	30	44					A	64527080	G	A	64527080	3	1	435	1	0	0	0	0	1	0	0	0	273	1087	38	1	524	1	ADAMTS9	3	64527080	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	393744	64527080	133495350	1916	22841											
ADAMTS9	56999	broad.mit.edu	37	chr3	64532491	64532491	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gggcagtccctcaggtaacaGgggtgaacactggggggctg	8	6	18	9	0	1	1	1	1	0	0	2	1	2	1	1	7	2	3	1	7	2	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:64532491G>A	ENST00000498707.1	-	32	5349	c.5007C>T	c.(5005-5007)ccC>ccT	p.P1669P	ADAMTS9_ENST00000295903.4_Silent_p.P1641P	NM_182920.1	NP_891550.1	Q9P2N4	ATS9_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 9	1669	TSP type-1 14. {ECO:0000255|PROSITE- ProRule:PRU00210}.				glycoprotein catabolic process (GO:0006516)|multicellular organismal development (GO:0007275)|positive regulation of melanocyte differentiation (GO:0045636)|protein transport (GO:0015031)|proteolysis (GO:0006508)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	100		Lung NSC(201;0.00682)		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)		TCAGGTAACAGGGGTGAACAC	0.547																																						ENST00000498707.1																			0				breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	100						c.(5005-5007)ccC>ccT		ADAM metallopeptidase with thrombospondin type 1 motif, 9							117	115	116					3																	64532491		2203	4300	6503	SO:0001819	synonymous_variant	56999				glycoprotein catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr3:64532491G>A	AF261918	CCDS2903.1	3p14.1	2008-05-15	2005-08-19		ENSG00000163638	ENSG00000163638		"ADAM metallopeptidases with thrombospondin type 1 motif"	13202	protein-coding gene	gene with protein product		605421	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 9"			10936055	Standard	NM_182920		Approved	KIAA1312	uc003dmg.3	Q9P2N4	OTTHUMG00000158722	ENST00000498707.1:c.5007C>T	3.37:g.64532491G>A						ADAMTS9_ENST00000295903.4_Silent_p.P1641P	p.P1669P	NM_182920.1	NP_891550.1	Q9P2N4	ATS9_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)	32	5349	-		Lung NSC(201;0.00682)	1669			TSP type-1 14.		A1L4L0|B7ZVX9|B9ZVN0|Q9NR29	Silent	SNP	ENST00000498707.1	37	c.5007C>T	CCDS2903.1	.	.	.	.	.	.	.	.	.	.	G	9.386	1.074146	0.20227	.	.	ENSG00000163638	ENST00000481060	T	0.60672	0.17	5.36	3.57	0.40892	.	0.000000	0.85682	D	0.000000	T	0.54615	0.1869	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.47381	-0.9122	7	0.32370	T	0.25	.	6.3946	0.21605	0.0722:0.1393:0.6563:0.1323	.	.	.	.	L	725	ENSP00000417521:P725L	ENSP00000417521:P725L	P	-	2	0	ADAMTS9	64507531	0.997000	0.39634	1.000000	0.80357	0.927000	0.56198	0.263000	0.18478	0.632000	0.30432	0.655000	0.94253	CCT		0.547	ADAMTS9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351891.1			23	30	0	0	0	1	0	23	30					A	64532491	G	A	64532491	2	1	435	1	0	0	0	0	0	0	0	1	273	987	35	3		3	ADAMTS9	3	64532491	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	5411	64532491	133489939	1917	22842											
ADAMTS9	56999	broad.mit.edu	37	chr3	64617536	64617536	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttttgcatgaagaattatcGccaccacaaaccccacattt	13	11	5	12	1	0	2	0	1	0	1	1	2	0	2	4	0	2	2	4	0	4	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:64617536G>A	ENST00000498707.1	-	15	2583	c.2241C>T	c.(2239-2241)ggC>ggT	p.G747G	ADAMTS9_ENST00000295903.4_Silent_p.G719G	NM_182920.1	NP_891550.1	Q9P2N4	ATS9_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 9	747	Cys-rich.				glycoprotein catabolic process (GO:0006516)|multicellular organismal development (GO:0007275)|positive regulation of melanocyte differentiation (GO:0045636)|protein transport (GO:0015031)|proteolysis (GO:0006508)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	100		Lung NSC(201;0.00682)		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)		AAGAATTATCGCCACCACAAA	0.363																																						ENST00000498707.1																			0				breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	100						c.(2239-2241)ggC>ggT		ADAM metallopeptidase with thrombospondin type 1 motif, 9							118	117	117					3																	64617536		2202	4300	6502	SO:0001819	synonymous_variant	56999				glycoprotein catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr3:64617536G>A	AF261918	CCDS2903.1	3p14.1	2008-05-15	2005-08-19		ENSG00000163638	ENSG00000163638		"ADAM metallopeptidases with thrombospondin type 1 motif"	13202	protein-coding gene	gene with protein product		605421	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 9"			10936055	Standard	NM_182920		Approved	KIAA1312	uc003dmg.3	Q9P2N4	OTTHUMG00000158722	ENST00000498707.1:c.2241C>T	3.37:g.64617536G>A						ADAMTS9_ENST00000295903.4_Silent_p.G719G	p.G747G	NM_182920.1	NP_891550.1	Q9P2N4	ATS9_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)	15	2583	-		Lung NSC(201;0.00682)	747			Cys-rich.		A1L4L0|B7ZVX9|B9ZVN0|Q9NR29	Silent	SNP	ENST00000498707.1	37	c.2241C>T	CCDS2903.1																																																																																				0.363	ADAMTS9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351891.1			31	46	0	0	0	1	0	31	46					A	64617536	G	A	64617536	2	1	435	1	0	0	0	0	0	0	0	1	273	1074	38	1		1	ADAMTS9	3	64617536	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	85045	64617536	133404894	1918	22843											
MAGI1	9223	broad.mit.edu	37	chr3	65342334	65342334	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctctccagagaccgtctccGccggctgggggagccgtctc	4	8	13	16	4	3	1	0	0	3	1	7	3	4	2	5	3	1	1	5	3	0	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:65342334G>A	ENST00000402939.2	-	23	4107	c.4108C>T	c.(4108-4110)Cgg>Tgg	p.R1370W	MAGI1_ENST00000330909.8_3'UTR|RP11-88H12.2_ENST00000602316.1_RNA	NM_001033057.1	NP_001028229.1	Q96QZ7	MAGI1_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 1	1399					cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|neuron death (GO:0070997)|protein complex assembly (GO:0006461)	cell junction (GO:0030054)|cell projection (GO:0042995)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	alpha-actinin binding (GO:0051393)|ATP binding (GO:0005524)|protein C-terminus binding (GO:0008022)			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5)	51		Lung NSC(201;0.0016)		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)		GACCGTCTCCGCCGGCTGGGG	0.697																																						ENST00000402939.2																			0				breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5)	51						c.(4108-4110)Cgg>Tgg		membrane associated guanylate kinase, WW and PDZ domain containing 1							26	30	29					3																	65342334		2197	4295	6492	SO:0001583	missense	9223				cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly	tight junction	ATP binding|protein C-terminus binding	g.chr3:65342334G>A	AB010894	CCDS33780.1, CCDS33781.1, CCDS2904.1	3p14.1	2009-10-06	2005-05-10	2005-05-10	ENSG00000151276	ENSG00000151276			946	protein-coding gene	gene with protein product		602625	"BAI1-associated protein 1"	BAIAP1		9647739, 9225980	Standard	XM_005265563		Approved	BAP1, MAGI-1, TNRC19, AIP3, WWP3	uc003dmn.3	Q96QZ7	OTTHUMG00000157554	ENST00000402939.2:c.4108C>T	3.37:g.65342334G>A	ENSP00000385450:p.Arg1370Trp					MAGI1_ENST00000330909.8_3'UTR	p.R1370W	NM_001033057.1	NP_001028229.1	Q96QZ7	MAGI1_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)	23	4107	-		Lung NSC(201;0.0016)	1399					A8K188|O00309|O43863|O75085|Q96QZ8|Q96QZ9	Missense_Mutation	SNP	ENST00000402939.2	37	c.4108C>T	CCDS33780.1	.	.	.	.	.	.	.	.	.	.	G	12.03	1.814821	0.32053	.	.	ENSG00000151276	ENST00000402939	T	0.13901	2.55	5.31	4.41	0.53225	.	0.329934	0.28057	N	0.016761	T	0.24890	0.0604	L	0.32530	0.975	0.80722	D	1	D	0.89917	1.0	D	0.65773	0.938	T	0.01393	-1.1366	10	0.72032	D	0.01	-8.6838	13.5723	0.61853	0.0:0.0:0.7173:0.2827	.	1370	Q96QZ7-2	.	W	1370	ENSP00000385450:R1370W	ENSP00000385450:R1370W	R	-	1	2	MAGI1	65317374	0.999000	0.42202	0.326000	0.25389	0.201000	0.24016	4.014000	0.57145	1.188000	0.43014	0.655000	0.94253	CGG		0.697	MAGI1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000349126.1	NM_004742		12	45	0	0	0	1	0	12	45					A	65342334	G	A	65342334	3	1	435	1	0	0	0	0	1	0	0	0	9190	1086	38	1	284	1	MAGI1	3	65342334	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	724798	65342334	132680096	1919	22844											
MAGI1	9223	broad.mit.edu	37	chr3	65607655	65607655	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccaactacttacaaggcacaGcatggcggtaaaggttatcc	13	8	9	11	1	0	0	0	0	0	0	1	0	1	0	2	4	4	4	2	4	7	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:65607655G>A	ENST00000497477.2	-	2	421	c.422C>T	c.(421-423)gCt>gTt	p.A141V	MAGI1_ENST00000483466.1_Missense_Mutation_p.A141V|MAGI1_ENST00000470990.1_5'UTR|MAGI1_ENST00000330909.8_Missense_Mutation_p.A141V|MAGI1_ENST00000402939.2_Missense_Mutation_p.A141V			Q96QZ7	MAGI1_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 1	141	Guanylate kinase-like. {ECO:0000255|PROSITE-ProRule:PRU00100}.				cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|neuron death (GO:0070997)|protein complex assembly (GO:0006461)	cell junction (GO:0030054)|cell projection (GO:0042995)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	alpha-actinin binding (GO:0051393)|ATP binding (GO:0005524)|protein C-terminus binding (GO:0008022)			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5)	51		Lung NSC(201;0.0016)		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)		ACAAGGCACAGCATGGCGGTA	0.488																																						ENST00000330909.8																			0				breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5)	51						c.(421-423)gCt>gTt		membrane associated guanylate kinase, WW and PDZ domain containing 1							135	107	116					3																	65607655		2203	4300	6503	SO:0001583	missense	9223				cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly	tight junction	ATP binding|protein C-terminus binding	g.chr3:65607655G>A	AB010894	CCDS33780.1, CCDS33781.1, CCDS2904.1	3p14.1	2009-10-06	2005-05-10	2005-05-10	ENSG00000151276	ENSG00000151276			946	protein-coding gene	gene with protein product		602625	"BAI1-associated protein 1"	BAIAP1		9647739, 9225980	Standard	XM_005265563		Approved	BAP1, MAGI-1, TNRC19, AIP3, WWP3	uc003dmn.3	Q96QZ7	OTTHUMG00000157554	ENST00000497477.2:c.422C>T	3.37:g.65607655G>A	ENSP00000424369:p.Ala141Val					MAGI1_ENST00000497477.2_Missense_Mutation_p.A141V|MAGI1_ENST00000402939.2_Missense_Mutation_p.A141V|MAGI1_ENST00000470990.1_5'UTR|MAGI1_ENST00000483466.1_Missense_Mutation_p.A141V	p.A141V	NM_015520.1	NP_056335.1	Q96QZ7	MAGI1_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)	2	421	-		Lung NSC(201;0.0016)	141			Guanylate kinase-like.		A8K188|O00309|O43863|O75085|Q96QZ8|Q96QZ9	Missense_Mutation	SNP	ENST00000497477.2	37	c.422C>T		.	.	.	.	.	.	.	.	.	.	G	22.3	4.272317	0.80580	.	.	ENSG00000151276	ENST00000402939;ENST00000330909;ENST00000422949;ENST00000483466;ENST00000497477	T;T;T;T	0.42131	0.98;0.98;0.98;0.98	5.45	5.45	0.79879	Guanylate kinase/L-type calcium channel (1);Guanylate kinase (2);	0.120219	0.53938	D	0.000045	T	0.45657	0.1353	N	0.16066	0.365	0.58432	D	0.999994	B;D;B;P;B	0.59767	0.167;0.986;0.4;0.459;0.082	B;P;B;B;B	0.58520	0.045;0.84;0.11;0.101;0.053	T	0.48658	-0.9016	10	0.48119	T	0.1	-4.513	19.296	0.94122	0.0:0.0:1.0:0.0	.	141;141;141;141;141	Q96QZ7;Q96QZ7-4;Q96QZ7-3;Q96QZ7-2;Q96QZ7-5	MAGI1_HUMAN;.;.;.;.	V	141;141;37;141;141	ENSP00000385450:A141V;ENSP00000331157:A141V;ENSP00000420323:A141V;ENSP00000424369:A141V	ENSP00000331157:A141V	A	-	2	0	MAGI1	65582695	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.669000	0.98622	2.563000	0.86464	0.650000	0.86243	GCT		0.488	MAGI1-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000349132.2	NM_004742		17	24	0	0	0	1	0	17	24					A	65607655	G	A	65607655	3	1	435	1	0	0	0	0	1	0	0	0	9190	971	34	3	4288	3	MAGI1	3	65607655	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	265321	65607655	132414775	1920	22845											
LRIG1	26018	broad.mit.edu	37	chr3	66430821	66430821	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagcaagtactgggcttccgCgcgctctggactgcctgaag	8	8	13	12	3	1	1	0	1	1	0	2	2	2	2	2	2	3	4	2	2	4	2	rs57929900		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:66430821C>T	ENST00000273261.3	-	19	3672	c.3148G>A	c.(3148-3150)Gcg>Acg	p.A1050T	LRIG1_ENST00000496559.2_5'UTR|LRIG1_ENST00000383703.3_Missense_Mutation_p.A1027T|SLC25A26_ENST00000536651.1_3'UTR	NM_015541.2	NP_056356.2	Q96JA1	LRIG1_HUMAN	leucine-rich repeats and immunoglobulin-like domains 1	1050					innervation (GO:0060384)|otolith morphogenesis (GO:0032474)|sensory perception of sound (GO:0007605)	integral component of membrane (GO:0016021)				NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(4)|stomach(4)|urinary_tract(1)	42		Lung NSC(201;0.0101)		BRCA - Breast invasive adenocarcinoma(55;0.00047)		TGGGCTTCCGCGCGCTCTGGA	0.562													C|||	1	0.000199681	8e-04	0	5008	,	,		18919	0		0	False		,,,				2504	0					ENST00000383703.3																			0				NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(4)|stomach(4)|urinary_tract(1)	42						c.(3079-3081)Gcg>Acg		leucine-rich repeats and immunoglobulin-like domains 1		C	THR/ALA	2,4404	4.2+/-10.8	0,2,2201	112	112	112		3148	-9.4	0	3	dbSNP_129	112	1,8599	1.2+/-3.3	0,1,4299	no	missense	LRIG1	NM_015541.2	58	0,3,6500	TT,TC,CC		0.0116,0.0454,0.0231	benign	1050/1094	66430821	3,13003	2203	4300	6503	SO:0001583	missense	26018					integral to membrane		g.chr3:66430821C>T	AB050468	CCDS33783.1	3p14	2013-01-14			ENSG00000144749	ENSG00000144749		"Immunoglobulin superfamily / I-set domain containing"	17360	protein-coding gene	gene with protein product	"ortholog of mouse integral membrane glycoprotein LIG-1", "leucine-rich repeat protein LRIG1"	608868				11414704, 12234026	Standard	NM_015541		Approved	LIG-1, DKFZP586O1624, LIG1	uc003dmx.3	Q96JA1	OTTHUMG00000158727	ENST00000273261.3:c.3148G>A	3.37:g.66430821C>T	ENSP00000273261:p.Ala1050Thr					LRIG1_ENST00000496559.2_5'UTR|SLC25A26_ENST00000536651.1_3'UTR|LRIG1_ENST00000273261.3_Missense_Mutation_p.A1050T	p.A1027T			Q96JA1	LRIG1_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.00047)	20	3682	-		Lung NSC(201;0.0101)	1050					Q6IQ51|Q96CF9|Q9BYB8|Q9UFI4	Missense_Mutation	SNP	ENST00000273261.3	37	c.3079G>A	CCDS33783.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	0.942	-0.709103	0.03230	4.54E-4	1.16E-4	ENSG00000144749	ENST00000273261;ENST00000383703;ENST00000383702	T;T	0.65364	-0.15;-0.14	4.72	-9.44	0.00603	.	1.800750	0.02748	N	0.117067	T	0.32346	0.0826	N	0.04959	-0.14	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.36578	-0.9742	10	0.06236	T	0.91	.	9.9996	0.41920	0.0:0.2981:0.5386:0.1632	rs57929900	1027;1050;1050	Q96JA1-2;Q5XWD3;Q96JA1	.;.;LRIG1_HUMAN	T	1050;1027;953	ENSP00000273261:A1050T;ENSP00000373208:A1027T	ENSP00000273261:A1050T	A	-	1	0	LRIG1	66513511	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.978000	0.03778	-2.853000	0.00330	-1.986000	0.00452	GCG		0.562	LRIG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351930.1	NM_015541		4	91	0	0	0	1	0	4	91					T	66430821	C	T	66430821	3	4	435	1	0	0	0	0	1	0	0	0	8944	768	27	1	137	1	LRIG1	3	66430821	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	823166	66430821	131591609	1921	22846											
LRIG1	26018	broad.mit.edu	37	chr3	66431254	66431254	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	taacagtccacttcggtgttGcagtcactgcatacgacccg	9	10	9	13	3	1	0	1	0	0	0	3	1	2	0	2	1	4	3	2	1	2	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:66431254G>A	ENST00000273261.3	-	18	3326	c.2802C>T	c.(2800-2802)tgC>tgT	p.C934C	LRIG1_ENST00000496559.2_5'UTR|LRIG1_ENST00000383703.3_Silent_p.C911C|SLC25A26_ENST00000536651.1_3'UTR	NM_015541.2	NP_056356.2	Q96JA1	LRIG1_HUMAN	leucine-rich repeats and immunoglobulin-like domains 1	934					innervation (GO:0060384)|otolith morphogenesis (GO:0032474)|sensory perception of sound (GO:0007605)	integral component of membrane (GO:0016021)				NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(4)|stomach(4)|urinary_tract(1)	42		Lung NSC(201;0.0101)		BRCA - Breast invasive adenocarcinoma(55;0.00047)		CTTCGGTGTTGCAGTCACTGC	0.607																																						ENST00000383703.3																			0				NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(4)|stomach(4)|urinary_tract(1)	42						c.(2731-2733)tgC>tgT		leucine-rich repeats and immunoglobulin-like domains 1							60	62	62					3																	66431254		2203	4300	6503	SO:0001819	synonymous_variant	26018					integral to membrane		g.chr3:66431254G>A	AB050468	CCDS33783.1	3p14	2013-01-14			ENSG00000144749	ENSG00000144749		"Immunoglobulin superfamily / I-set domain containing"	17360	protein-coding gene	gene with protein product	"ortholog of mouse integral membrane glycoprotein LIG-1", "leucine-rich repeat protein LRIG1"	608868				11414704, 12234026	Standard	NM_015541		Approved	LIG-1, DKFZP586O1624, LIG1	uc003dmx.3	Q96JA1	OTTHUMG00000158727	ENST00000273261.3:c.2802C>T	3.37:g.66431254G>A						LRIG1_ENST00000496559.2_5'UTR|SLC25A26_ENST00000536651.1_3'UTR|LRIG1_ENST00000273261.3_Silent_p.C934C	p.C911C			Q96JA1	LRIG1_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.00047)	19	3336	-		Lung NSC(201;0.0101)	934	M -> I (in Ref. 2; BAB40659).				Q6IQ51|Q96CF9|Q9BYB8|Q9UFI4	Silent	SNP	ENST00000273261.3	37	c.2733C>T	CCDS33783.1																																																																																				0.607	LRIG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351930.1	NM_015541		14	23	0	0	0	1	0	14	23					A	66431254	G	A	66431254	2	1	435	1	0	0	0	0	0	0	0	1	8944	1311	46	3		3	LRIG1	3	66431254	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	433	66431254	131591176	1922	22847											
LRIG1	26018	broad.mit.edu	37	chr3	66467646	66467646	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	acacttctaaggaaaggtagGccttcagctggctcccctcc	9	9	9	14	0	2	0	1	0	1	0	4	1	4	1	4	4	1	3	4	4	3	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:66467646G>A	ENST00000273261.3	-	4	934	c.410C>T	c.(409-411)gCc>gTc	p.A137V	LRIG1_ENST00000383703.3_Missense_Mutation_p.A137V	NM_015541.2	NP_056356.2	Q96JA1	LRIG1_HUMAN	leucine-rich repeats and immunoglobulin-like domains 1	137					innervation (GO:0060384)|otolith morphogenesis (GO:0032474)|sensory perception of sound (GO:0007605)	integral component of membrane (GO:0016021)				NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(4)|stomach(4)|urinary_tract(1)	42		Lung NSC(201;0.0101)		BRCA - Breast invasive adenocarcinoma(55;0.00047)		GGAAAGGTAGGCCTTCAGCTG	0.488																																						ENST00000383703.3																			0				NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(4)|stomach(4)|urinary_tract(1)	42						c.(409-411)gCc>gTc		leucine-rich repeats and immunoglobulin-like domains 1							252	227	235					3																	66467646		2203	4300	6503	SO:0001583	missense	26018					integral to membrane		g.chr3:66467646G>A	AB050468	CCDS33783.1	3p14	2013-01-14			ENSG00000144749	ENSG00000144749		"Immunoglobulin superfamily / I-set domain containing"	17360	protein-coding gene	gene with protein product	"ortholog of mouse integral membrane glycoprotein LIG-1", "leucine-rich repeat protein LRIG1"	608868				11414704, 12234026	Standard	NM_015541		Approved	LIG-1, DKFZP586O1624, LIG1	uc003dmx.3	Q96JA1	OTTHUMG00000158727	ENST00000273261.3:c.410C>T	3.37:g.66467646G>A	ENSP00000273261:p.Ala137Val					LRIG1_ENST00000273261.3_Missense_Mutation_p.A137V	p.A137V			Q96JA1	LRIG1_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.00047)	4	1013	-		Lung NSC(201;0.0101)	137					Q6IQ51|Q96CF9|Q9BYB8|Q9UFI4	Missense_Mutation	SNP	ENST00000273261.3	37	c.410C>T	CCDS33783.1	.	.	.	.	.	.	.	.	.	.	G	7.954	0.745468	0.15710	.	.	ENSG00000144749	ENST00000273261;ENST00000383703;ENST00000383702	T;T	0.57595	0.39;0.39	5.95	5.06	0.68205	.	0.470907	0.24031	N	0.042187	T	0.33498	0.0865	N	0.08118	0	0.09310	N	0.999999	B;B	0.15473	0.013;0.008	B;B	0.16289	0.015;0.007	T	0.09357	-1.0678	10	0.18276	T	0.48	.	16.3198	0.82945	0.0:0.0:0.8667:0.1333	.	137;137	Q96JA1-2;Q96JA1	.;LRIG1_HUMAN	V	137;137;64	ENSP00000273261:A137V;ENSP00000373208:A137V	ENSP00000273261:A137V	A	-	2	0	LRIG1	66550336	0.986000	0.35501	0.823000	0.32752	0.036000	0.12997	2.949000	0.49074	1.485000	0.48380	0.643000	0.83706	GCC		0.488	LRIG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351930.1	NM_015541		55	95	0	0	0	1	0	55	95					A	66467646	G	A	66467646	3	1	435	1	0	0	0	0	1	0	0	0	8944	1203	42	3	2935	3	LRIG1	3	66467646	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	36392	66467646	131554784	1923	22848											
C3orf64	285203	broad.mit.edu	37	chr3	69047213	69047213	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctgaatgagttattaacgtgCtgagtaatataaagattgat	15	14	9	3	1	0	5	0	4	0	1	0	5	0	5	0	0	2	3	0	0	7	6			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:69047213C>T	ENST00000383701.3	-	10	1522	c.780G>A	c.(778-780)caG>caA	p.Q260Q	EOGT_ENST00000540764.1_Silent_p.Q159Q|EOGT_ENST00000295571.5_Silent_p.Q260Q|EOGT_ENST00000540955.1_Intron	NM_001278689.1	NP_001265618.1	Q5NDL2	EOGT_HUMAN	EGF domain-specific O-linked N-acetylglucosamine (GlcNAc) transferase	260					protein O-linked glycosylation (GO:0006493)	endoplasmic reticulum (GO:0005783)	protein N-acetylglucosaminyltransferase activity (GO:0016262)										TATTAACGTGCTGAGTAATAT	0.383																																						ENST00000383701.3																			0											c.(778-780)caG>caA		EGF domain-specific O-linked N-acetylglucosamine (GlcNAc) transferase							159	140	147					3																	69047213		2203	4300	6503	SO:0001819	synonymous_variant	285203							g.chr3:69047213C>T	AK091089	CCDS2908.1, CCDS63684.1	3p14.1	2013-10-11	2012-05-21	2012-05-21	ENSG00000163378	ENSG00000163378	2.4.1.255		28526	protein-coding gene	gene with protein product	"AER61 glycosyltransferase"	614789	"chromosome 3 open reading frame 64"	C3orf64		22310717	Standard	NM_001278689		Approved	AER61, FLJ33770	uc003dnk.3	Q5NDL2	OTTHUMG00000156279	ENST00000383701.3:c.780G>A	3.37:g.69047213C>T						EOGT_ENST00000540764.1_Silent_p.Q159Q|EOGT_ENST00000540955.1_Intron|EOGT_ENST00000295571.5_Silent_p.Q260Q	p.Q260Q	NM_001278689.1	NP_001265618.1					10	1522	-								A8K2U1|B4DFH5|L7X1M5|Q6MZY0|Q6P985|Q6ZTV0	Silent	SNP	ENST00000383701.3	37	c.780G>A																																																																																					0.383	EOGT-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000343722.1	NM_173654		54	85	0	0	0	1	0	54	85					T	69047213	C	T	69047213	2	4	435	1	0	0	0	0	0	0	0	1	2240	796	28	3		3	C3orf64	3	69047213	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	2579567	69047213	128975217	1924	22849											
C3orf64	285203	broad.mit.edu	37	chr3	69056865	69056865	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	taaggagcaaaatacccaccGtttccttaggctgacagagc	13	8	9	11	1	0	2	0	1	0	1	1	3	1	3	3	2	3	3	3	2	5	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:69056865G>A	ENST00000383701.3	-	6	1161	c.419C>T	c.(418-420)aCg>aTg	p.T140M	EOGT_ENST00000540764.1_Splice_Site_p.T39M|EOGT_ENST00000295571.5_Splice_Site_p.T140M|EOGT_ENST00000540955.1_De_novo_Start_OutOfFrame	NM_001278689.1	NP_001265618.1	Q5NDL2	EOGT_HUMAN	EGF domain-specific O-linked N-acetylglucosamine (GlcNAc) transferase	140					protein O-linked glycosylation (GO:0006493)	endoplasmic reticulum (GO:0005783)	protein N-acetylglucosaminyltransferase activity (GO:0016262)										AATACCCACCGTTTCCTTAGG	0.403																																						ENST00000540955.1																			0													EGF domain-specific O-linked N-acetylglucosamine (GlcNAc) transferase							106	105	105					3																	69056865		2203	4300	6503	SO:0001630	splice_region_variant	285203							g.chr3:69056865G>A	AK091089	CCDS2908.1, CCDS63684.1	3p14.1	2013-10-11	2012-05-21	2012-05-21	ENSG00000163378	ENSG00000163378	2.4.1.255		28526	protein-coding gene	gene with protein product	"AER61 glycosyltransferase"	614789	"chromosome 3 open reading frame 64"	C3orf64		22310717	Standard	NM_001278689		Approved	AER61, FLJ33770	uc003dnk.3	Q5NDL2	OTTHUMG00000156279	ENST00000383701.3:c.420+1C>T	3.37:g.69056865G>A						EOGT_ENST00000540764.1_Splice_Site_p.T39_splice|EOGT_ENST00000295571.5_Splice_Site_p.T140_splice|EOGT_ENST00000383701.3_Splice_Site_p.T140_splice								0	850	-								A8K2U1|B4DFH5|L7X1M5|Q6MZY0|Q6P985|Q6ZTV0	Translation_Start_Site	SNP	ENST00000383701.3	37			.	.	.	.	.	.	.	.	.	.	G	10.72	1.430896	0.25726	.	.	ENSG00000163378	ENST00000383701;ENST00000295571;ENST00000540764	.	.	.	5.09	-7.07	0.01563	.	0.854162	0.10818	N	0.630782	T	0.32585	0.0834	L	0.43152	1.355	0.24826	N	0.992551	B;B	0.11235	0.004;0.004	B;B	0.08055	0.003;0.002	T	0.14364	-1.0475	9	0.45353	T	0.12	.	8.785	0.34814	0.5818:0.0:0.2371:0.1811	.	140;140	Q5NDL2;Q5NDL2-3	AER61_HUMAN;.	M	140;140;39	.	ENSP00000295571:T140M	T	-	2	0	C3orf64	69139555	0.000000	0.05858	0.000000	0.03702	0.080000	0.17528	-1.437000	0.02419	-1.889000	0.01112	-0.216000	0.12614	ACG		0.403	EOGT-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000343722.1	NM_173654	Missense_Mutation	43	76	0	0	0	1	0	43	76					A	69056865	G	A	69056865	5	1	435	1	0	0	0	0	0	0	1	0	2240	1159	40	1	952	1	C3orf64	3	69056865	Splice_Site	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	9652	69056865	128965565	1925	22850											
PROK2	60675	broad.mit.edu	37	chr3	71830692	71830692	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccttatgctcttgacccagaTactgacagcacagcacatgc	11	9	7	14	0	1	3	0	2	1	1	1	3	1	3	2	0	5	3	2	0	2	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:71830692T>C	ENST00000295619.3	-	2	156	c.148A>G	c.(148-150)Atc>Gtc	p.I50V	PROK2_ENST00000353065.3_Missense_Mutation_p.I50V	NM_001126128.1	NP_001119600.1	Q9HC23	PROK2_HUMAN	prokineticin 2	50					activation of MAPK activity (GO:0000187)|angiogenesis (GO:0001525)|cell proliferation (GO:0008283)|chemotaxis (GO:0006935)|circadian rhythm (GO:0007623)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|negative regulation of apoptotic process (GO:0043066)|neuropeptide signaling pathway (GO:0007218)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of smooth muscle contraction (GO:0045987)|sensory perception of pain (GO:0019233)|spermatogenesis (GO:0007283)	extracellular region (GO:0005576)	G-protein coupled receptor binding (GO:0001664)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	6		Prostate(10;0.00899)		BRCA - Breast invasive adenocarcinoma(55;1.89e-05)|Epithelial(33;0.000173)|LUSC - Lung squamous cell carcinoma(21;0.00168)|Lung(16;0.00306)		TTGACCCAGATACTGACAGCA	0.408																																						ENST00000353065.3																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	6						c.(148-150)Atc>Gtc		prokineticin 2							110	99	103					3																	71830692		2203	4300	6503	SO:0001583	missense	60675				activation of MAPK activity|angiogenesis|anti-apoptosis|cell proliferation|chemotaxis|elevation of cytosolic calcium ion concentration|inflammatory response|neuropeptide signaling pathway|positive regulation of smooth muscle contraction|sensory perception of pain|spermatogenesis	extracellular region	G-protein-coupled receptor binding	g.chr3:71830692T>C	AF333025	CCDS2916.1, CCDS46868.1	3p21.1	2013-02-28			ENSG00000163421	ENSG00000163421		"Endogenous ligands"	18455	protein-coding gene	gene with protein product	"protein Bv8 homolog"	607002				11054548, 11259612	Standard	NM_021935		Approved	PK2, BV8, MIT1, KAL4	uc003dpa.4	Q9HC23	OTTHUMG00000158809	ENST00000295619.3:c.148A>G	3.37:g.71830692T>C	ENSP00000295619:p.Ile50Val					PROK2_ENST00000295619.3_Missense_Mutation_p.I50V	p.I50V	NM_021935.3	NP_068754.1	Q9HC23	PROK2_HUMAN		BRCA - Breast invasive adenocarcinoma(55;1.89e-05)|Epithelial(33;0.000173)|LUSC - Lung squamous cell carcinoma(21;0.00168)|Lung(16;0.00306)	2	301	-		Prostate(10;0.00899)	50					Q53Z79|Q6ISR0	Missense_Mutation	SNP	ENST00000295619.3	37	c.148A>G	CCDS46868.1	.	.	.	.	.	.	.	.	.	.	T	14.16	2.453340	0.43531	.	.	ENSG00000163421	ENST00000353065;ENST00000295619	D;D	0.85861	-2.04;-2.04	5.72	4.55	0.56014	Prokineticin domain (2);	0.256080	0.33670	N	0.004677	T	0.80859	0.4704	L	0.47716	1.5	0.29491	N	0.855609	B;B	0.33022	0.394;0.267	B;B	0.35931	0.214;0.127	T	0.74352	-0.3693	10	0.35671	T	0.21	-25.8061	11.3865	0.49789	0.0:0.0:0.2868:0.7132	.	50;50	Q9HC23;Q6ISR0	PROK2_HUMAN;.	V	50	ENSP00000295618:I50V;ENSP00000295619:I50V	ENSP00000295619:I50V	I	-	1	0	PROK2	71913382	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	1.760000	0.38430	0.966000	0.38159	0.528000	0.53228	ATC		0.408	PROK2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000352302.1	NM_001126128		18	36	0	0	0	1	0	18	36					C	71830692	T	C	71830692	3	2	435	1	0	0	0	0	1	0	0	0	12551	1406	49	4	253	4	PROK2	3	71830692	Missense_Mutation	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	2773827	71830692	126191738	1926	22851											
PPP4R2	151987	broad.mit.edu	37	chr3	73096418	73096418	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcagaacttcagctcctgaGccaagaggtcctcccaaccc	10	8	7	16	0	2	3	2	1	0	2	5	3	5	3	5	1	4	1	5	1	3	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:73096418G>A	ENST00000356692.5	+	3	451	c.198G>A	c.(196-198)gaG>gaA	p.E66E	PPP4R2_ENST00000394284.3_Intron|PPP4R2_ENST00000295862.9_Silent_p.E10E			Q9NY27	PP4R2_HUMAN	protein phosphatase 4, regulatory subunit 2	66					cellular protein modification process (GO:0006464)|hematopoietic progenitor cell differentiation (GO:0002244)|mRNA processing (GO:0006397)|regulation of catalytic activity (GO:0050790)|regulation of double-strand break repair via homologous recombination (GO:0010569)|RNA splicing (GO:0008380)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|protein phosphatase 4 complex (GO:0030289)	protein binding, bridging (GO:0030674)|protein phosphatase type 4 regulator activity (GO:0030362)			breast(2)|endometrium(1)|large_intestine(1)|lung(3)|skin(2)|stomach(1)|urinary_tract(2)	12		Prostate(10;0.0187)|Lung SC(41;0.236)		Epithelial(33;1.76e-07)|BRCA - Breast invasive adenocarcinoma(55;9.42e-05)|LUSC - Lung squamous cell carcinoma(21;0.00211)|Lung(16;0.00643)|KIRC - Kidney renal clear cell carcinoma(39;0.0164)|Kidney(39;0.0193)|OV - Ovarian serous cystadenocarcinoma(275;0.031)		CAGCTCCTGAGCCAAGAGGTC	0.358																																						ENST00000356692.5																			0				breast(2)|endometrium(1)|large_intestine(1)|lung(3)|skin(2)|stomach(1)|urinary_tract(2)	12						c.(196-198)gaG>gaA		protein phosphatase 4, regulatory subunit 2							38	40	40					3																	73096418		2201	4295	6496	SO:0001819	synonymous_variant	151987				mRNA processing|protein modification process|regulation of double-strand break repair via homologous recombination|RNA splicing	centrosome|nucleus|protein phosphatase 4 complex	protein binding, bridging|protein phosphatase type 4 regulator activity	g.chr3:73096418G>A	AJ271448	CCDS2917.1	3q29	2010-06-18			ENSG00000163605	ENSG00000163605		"Serine/threonine phosphatases / Protein phosphatase 4, regulatory subunits"	18296	protein-coding gene	gene with protein product		613822				10769191	Standard	NM_174907		Approved		uc003dph.1	Q9NY27	OTTHUMG00000158816	ENST00000356692.5:c.198G>A	3.37:g.73096418G>A						PPP4R2_ENST00000295862.9_Silent_p.E10E|PPP4R2_ENST00000394284.3_Intron	p.E66E			Q9NY27	PP4R2_HUMAN		Epithelial(33;1.76e-07)|BRCA - Breast invasive adenocarcinoma(55;9.42e-05)|LUSC - Lung squamous cell carcinoma(21;0.00211)|Lung(16;0.00643)|KIRC - Kidney renal clear cell carcinoma(39;0.0164)|Kidney(39;0.0193)|OV - Ovarian serous cystadenocarcinoma(275;0.031)	3	451	+		Prostate(10;0.0187)|Lung SC(41;0.236)	66					A8K1I6|Q2TAJ9|Q498B8|Q8WXX6	Silent	SNP	ENST00000356692.5	37	c.198G>A	CCDS2917.1																																																																																				0.358	PPP4R2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352321.1	NM_174907		12	9	0	0	0	1	0	12	9					A	73096418	G	A	73096418	2	1	435	1	0	0	0	0	0	0	0	1	12404	962	34	3		3	PPP4R2	3	73096418	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	1265726	73096418	124926012	1927	22852											
PDZRN3	23024	broad.mit.edu	37	chr3	73433545	73433545	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtgttgtagttgcggaagccGctgttgtgcagcatccagga	7	11	15	8	2	0	0	0	0	0	0	1	2	1	2	2	2	4	7	2	2	2	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:73433545G>A	ENST00000263666.4	-	10	2286	c.2172C>T	c.(2170-2172)agC>agT	p.S724S	PDZRN3_ENST00000479530.1_Silent_p.S441S|PDZRN3_ENST00000535920.1_Silent_p.S446S|PDZRN3_ENST00000462146.2_Silent_p.S381S|PDZRN3_ENST00000466780.1_Silent_p.S381S|PDZRN3_ENST00000466348.1_5'Flank	NM_015009.1	NP_055824.1	Q9UPQ7	PZRN3_HUMAN	PDZ domain containing ring finger 3	724					neuromuscular junction development (GO:0007528)|protein ubiquitination (GO:0016567)	neuromuscular junction (GO:0031594)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)		TGCGGAAGCCGCTGTTGTGCA	0.607																																						ENST00000263666.4																			0				breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69						c.(2170-2172)agC>agT		PDZ domain containing ring finger 3							46	41	43					3																	73433545		2203	4300	6503	SO:0001819	synonymous_variant	23024						ubiquitin-protein ligase activity|zinc ion binding	g.chr3:73433545G>A	AB029018	CCDS33789.1	3p14.1	2013-01-09	2008-08-14		ENSG00000121440	ENSG00000121440		"RING-type (C3HC4) zinc fingers"	17704	protein-coding gene	gene with protein product	"likely ortholog of mouse semaF cytoplasmic domain associated protein 3"	609729				10470851	Standard	XM_005264718		Approved	KIAA1095, SEMACAP3, LNX3	uc003dpl.1	Q9UPQ7	OTTHUMG00000158865	ENST00000263666.4:c.2172C>T	3.37:g.73433545G>A						PDZRN3_ENST00000535920.1_Silent_p.S446S|PDZRN3_ENST00000462146.2_Silent_p.S381S|PDZRN3_ENST00000466780.1_Silent_p.S381S|PDZRN3_ENST00000479530.1_Silent_p.S441S	p.S724S	NM_015009.1	NP_055824.1	Q9UPQ7	PZRN3_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)	10	2286	-		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)	724					A7MCZ6|Q8N2N7|Q96CC2|Q9NSQ2	Silent	SNP	ENST00000263666.4	37	c.2172C>T	CCDS33789.1																																																																																				0.607	PDZRN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352460.1	XM_041363		16	33	0	0	0	1	0	16	33					A	73433545	G	A	73433545	2	1	435	1	0	0	0	0	0	0	0	1	11709	1078	38	1		1	PDZRN3	3	73433545	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	337127	73433545	124588885	1928	22853											
PDZRN3	23024	broad.mit.edu	37	chr3	73433743	73433743	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tacaggccgtaaggggtggcGctcttcacctggcacttgag	7	9	14	11	2	2	1	1	1	1	0	2	1	2	1	2	5	1	3	2	5	2	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:73433743G>A	ENST00000263666.4	-	10	2088	c.1974C>T	c.(1972-1974)agC>agT	p.S658S	PDZRN3_ENST00000479530.1_Silent_p.S375S|PDZRN3_ENST00000535920.1_Silent_p.S380S|PDZRN3_ENST00000462146.2_Silent_p.S315S|PDZRN3_ENST00000466780.1_Silent_p.S315S|PDZRN3_ENST00000466348.1_5'Flank	NM_015009.1	NP_055824.1	Q9UPQ7	PZRN3_HUMAN	PDZ domain containing ring finger 3	658					neuromuscular junction development (GO:0007528)|protein ubiquitination (GO:0016567)	neuromuscular junction (GO:0031594)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)		AAGGGGTGGCGCTCTTCACCT	0.652																																						ENST00000263666.4																			0				breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69						c.(1972-1974)agC>agT		PDZ domain containing ring finger 3							47	51	50					3																	73433743		2203	4300	6503	SO:0001819	synonymous_variant	23024						ubiquitin-protein ligase activity|zinc ion binding	g.chr3:73433743G>A	AB029018	CCDS33789.1	3p14.1	2013-01-09	2008-08-14		ENSG00000121440	ENSG00000121440		"RING-type (C3HC4) zinc fingers"	17704	protein-coding gene	gene with protein product	"likely ortholog of mouse semaF cytoplasmic domain associated protein 3"	609729				10470851	Standard	XM_005264718		Approved	KIAA1095, SEMACAP3, LNX3	uc003dpl.1	Q9UPQ7	OTTHUMG00000158865	ENST00000263666.4:c.1974C>T	3.37:g.73433743G>A						PDZRN3_ENST00000535920.1_Silent_p.S380S|PDZRN3_ENST00000462146.2_Silent_p.S315S|PDZRN3_ENST00000466780.1_Silent_p.S315S|PDZRN3_ENST00000479530.1_Silent_p.S375S	p.S658S	NM_015009.1	NP_055824.1	Q9UPQ7	PZRN3_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)	10	2088	-		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)	658					A7MCZ6|Q8N2N7|Q96CC2|Q9NSQ2	Silent	SNP	ENST00000263666.4	37	c.1974C>T	CCDS33789.1																																																																																				0.652	PDZRN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352460.1	XM_041363		16	31	0	0	0	1	0	16	31					A	73433743	G	A	73433743	2	1	435	1	0	0	0	0	0	0	0	1	11709	1078	38	1		1	PDZRN3	3	73433743	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	198	73433743	124588687	1929	22854											
PDZRN3	23024	broad.mit.edu	37	chr3	73657797	73657797	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	aatcccagggagccggagtcCcgatgcaggacaagagtcag	12	4	14	11	2	1	1	1	0	0	1	3	5	3	4	3	3	2	1	3	3	2	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:73657797C>T	ENST00000263666.4	-	2	876	c.762G>A	c.(760-762)cgG>cgA	p.R254R	PDZRN3_ENST00000308537.4_Silent_p.R254R	NM_015009.1	NP_055824.1	Q9UPQ7	PZRN3_HUMAN	PDZ domain containing ring finger 3	254	PDZ 1. {ECO:0000255|PROSITE- ProRule:PRU00143}.				neuromuscular junction development (GO:0007528)|protein ubiquitination (GO:0016567)	neuromuscular junction (GO:0031594)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)		AGCCGGAGTCCCGATGCAGGA	0.428																																						ENST00000263666.4																			0				breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69						c.(760-762)cgG>cgA		PDZ domain containing ring finger 3							52	56	55					3																	73657797		2203	4300	6503	SO:0001819	synonymous_variant	23024						ubiquitin-protein ligase activity|zinc ion binding	g.chr3:73657797C>T	AB029018	CCDS33789.1	3p14.1	2013-01-09	2008-08-14		ENSG00000121440	ENSG00000121440		"RING-type (C3HC4) zinc fingers"	17704	protein-coding gene	gene with protein product	"likely ortholog of mouse semaF cytoplasmic domain associated protein 3"	609729				10470851	Standard	XM_005264718		Approved	KIAA1095, SEMACAP3, LNX3	uc003dpl.1	Q9UPQ7	OTTHUMG00000158865	ENST00000263666.4:c.762G>A	3.37:g.73657797C>T						PDZRN3_ENST00000308537.4_Silent_p.R254R	p.R254R	NM_015009.1	NP_055824.1	Q9UPQ7	PZRN3_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)	2	876	-		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)	254			PDZ 1.		A7MCZ6|Q8N2N7|Q96CC2|Q9NSQ2	Silent	SNP	ENST00000263666.4	37	c.762G>A	CCDS33789.1																																																																																				0.428	PDZRN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352460.1	XM_041363		4	10	0	0	0	1	0	4	10					T	73657797	C	T	73657797	2	4	435	1	0	0	0	0	0	0	0	1	11709	610	22	3		3	PDZRN3	3	73657797	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	224054	73657797	124364633	1930	22855											
CNTN3	5067	broad.mit.edu	37	chr3	74414810	74414810	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caataaagactgtcctccacGgctatttccacatcctttat	11	13	4	13	1	0	1	0	0	0	1	4	1	4	1	4	1	0	1	4	1	5	5	rs138191723	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:74414810G>A	ENST00000263665.6	-	8	1017	c.990C>T	c.(988-990)gcC>gcT	p.A330A		NM_020872.1	NP_065923.1	Q9P232	CNTN3_HUMAN	contactin 3 (plasmacytoma associated)	330	Ig-like C2-type 4.				cell adhesion (GO:0007155)|nervous system development (GO:0007399)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(39)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	83		Lung NSC(201;0.138)|Lung SC(41;0.21)		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)		TGTCCTCCACGGCTATTTCCA	0.453																																						ENST00000263665.6																			0				NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(39)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	83						c.(988-990)gcC>gcT		contactin 3 (plasmacytoma associated)		G		3,4403	6.2+/-15.9	0,3,2200	180	186	184		990	-7.5	0.4	3	dbSNP_134	184	0,8598		0,0,4299	no	coding-synonymous	CNTN3	NM_020872.1		0,3,6499	AA,AG,GG		0.0,0.0681,0.0231		330/1029	74414810	3,13001	2203	4299	6502	SO:0001819	synonymous_variant	5067				cell adhesion	anchored to membrane|plasma membrane	protein binding	g.chr3:74414810G>A	AB040929	CCDS33790.1	3p12.3	2013-02-11			ENSG00000113805	ENSG00000113805		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	2173	protein-coding gene	gene with protein product		601325		PANG		8661054, 8586965	Standard	XM_005264757		Approved	BIG-1	uc003dpm.1	Q9P232	OTTHUMG00000158813	ENST00000263665.6:c.990C>T	3.37:g.74414810G>A							p.A330A	NM_020872.1	NP_065923.1	Q9P232	CNTN3_HUMAN		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)	8	1017	-		Lung NSC(201;0.138)|Lung SC(41;0.21)	330			Ig-like C2-type 4.		B9EK50|Q9H039	Silent	SNP	ENST00000263665.6	37	c.990C>T	CCDS33790.1																																																																																				0.453	CNTN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352306.1	NM_020872		67	125	0	0	0	1	0	67	125					A	74414810	G	A	74414810	2	1	435	1	0	0	0	0	0	0	0	1	3642	1103	39	2		2	CNTN3	3	74414810	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	757013	74414810	123607620	1931	22856											
ROBO2	6092	broad.mit.edu	37	chr3	77147399	77147399	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cttgcgcatcgtgcacgggcGcaggagtaaacctgatgaag	10	7	14	10	4	0	2	0	2	0	0	1	3	0	3	1	2	3	4	1	2	3	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:77147399G>A	ENST00000461745.1	+	2	1196	c.296G>A	c.(295-297)cGc>cAc	p.R99H	ROBO2_ENST00000332191.8_Missense_Mutation_p.R99H|ROBO2_ENST00000487694.3_Missense_Mutation_p.R115H	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	99	Ig-like C2-type 1.				apoptotic process involved in luteolysis (GO:0061364)|axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|brain development (GO:0007420)|cellular response to hormone stimulus (GO:0032870)|central nervous system development (GO:0007417)|homophilic cell adhesion (GO:0007156)|metanephros development (GO:0001656)|negative regulation of negative chemotaxis (GO:0050925)|negative regulation of synapse assembly (GO:0051964)|olfactory bulb interneuron development (GO:0021891)|positive regulation of axonogenesis (GO:0050772)|retinal ganglion cell axon guidance (GO:0031290)|ureteric bud development (GO:0001657)	axolemma (GO:0030673)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	axon guidance receptor activity (GO:0008046)|identical protein binding (GO:0042802)			NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		GTGCACGGGCGCAGGAGTAAA	0.532																																						ENST00000461745.1																			0				NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117						c.(295-297)cGc>cAc		roundabout, axon guidance receptor, homolog 2 (Drosophila)							95	98	97					3																	77147399		2038	4194	6232	SO:0001583	missense	6092				apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding	g.chr3:77147399G>A	AF040991	CCDS43109.1, CCDS54609.1	3p12.3	2013-02-11	2001-11-28		ENSG00000185008	ENSG00000185008		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	10250	protein-coding gene	gene with protein product		602431	"roundabout (axon guidance receptor, Drosophila) homolog 2"			9458045	Standard	NM_002942		Approved	KIAA1568	uc003dpy.4	Q9HCK4	OTTHUMG00000158935	ENST00000461745.1:c.296G>A	3.37:g.77147399G>A	ENSP00000417164:p.Arg99His					ROBO2_ENST00000332191.8_Missense_Mutation_p.R99H|ROBO2_ENST00000487694.3_Missense_Mutation_p.R115H	p.R99H	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN		Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)	2	1196	+			99			Ig-like C2-type 1.		O43608|Q19AB4|Q19AB5	Missense_Mutation	SNP	ENST00000461745.1	37	c.296G>A	CCDS43109.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.246615	0.80024	.	.	ENSG00000185008	ENST00000487694;ENST00000403211;ENST00000343019;ENST00000461745;ENST00000332191	T;T;T	0.40756	1.02;1.02;1.02	5.59	5.59	0.84812	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);	0.000000	0.39687	U	0.001285	T	0.64461	0.2600	M	0.61703	1.905	0.25214	N	0.989954	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.76071	0.987;0.977;0.987	T	0.65249	-0.6214	9	0.66056	D	0.02	.	19.5872	0.95495	0.0:0.0:1.0:0.0	.	115;99;99	Q19AB5;F8W703;Q9HCK4	.;.;ROBO2_HUMAN	H	115;115;115;99;99	ENSP00000417335:R115H;ENSP00000417164:R99H;ENSP00000327536:R99H	ENSP00000327536:R99H	R	+	2	0	ROBO2	77230089	1.000000	0.71417	1.000000	0.80357	0.054000	0.15201	9.866000	0.99616	2.628000	0.89032	0.655000	0.94253	CGC		0.532	ROBO2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000352600.2	XM_031246		13	19	0	0	0	1	0	13	19					A	77147399	G	A	77147399	3	1	435	1	0	0	0	0	1	0	0	0	13514	1087	38	1	304	1	ROBO2	3	77147399	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	2732589	77147399	120875031	1932	22857											
ROBO2	6092	broad.mit.edu	37	chr3	77526597	77526597	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acttccgacaaaaccccacaGatgttgtagtggcagctgga	12	8	10	11	1	0	1	0	0	0	1	1	3	1	2	3	2	2	4	3	2	3	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:77526597G>T	ENST00000461745.1	+	3	1321	c.421G>T	c.(421-423)Gat>Tat	p.D141Y	ROBO2_ENST00000332191.8_Missense_Mutation_p.D141Y|ROBO2_ENST00000487694.3_Missense_Mutation_p.D157Y	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	141	Ig-like C2-type 2.				apoptotic process involved in luteolysis (GO:0061364)|axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|brain development (GO:0007420)|cellular response to hormone stimulus (GO:0032870)|central nervous system development (GO:0007417)|homophilic cell adhesion (GO:0007156)|metanephros development (GO:0001656)|negative regulation of negative chemotaxis (GO:0050925)|negative regulation of synapse assembly (GO:0051964)|olfactory bulb interneuron development (GO:0021891)|positive regulation of axonogenesis (GO:0050772)|retinal ganglion cell axon guidance (GO:0031290)|ureteric bud development (GO:0001657)	axolemma (GO:0030673)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	axon guidance receptor activity (GO:0008046)|identical protein binding (GO:0042802)			NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		AAACCCCACAGATGTTGTAGT	0.463																																						ENST00000461745.1																			0				NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117						c.(421-423)Gat>Tat		roundabout, axon guidance receptor, homolog 2 (Drosophila)							121	116	117					3																	77526597		1849	4095	5944	SO:0001583	missense	6092				apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding	g.chr3:77526597G>T	AF040991	CCDS43109.1, CCDS54609.1	3p12.3	2013-02-11	2001-11-28		ENSG00000185008	ENSG00000185008		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	10250	protein-coding gene	gene with protein product		602431	"roundabout (axon guidance receptor, Drosophila) homolog 2"			9458045	Standard	NM_002942		Approved	KIAA1568	uc003dpy.4	Q9HCK4	OTTHUMG00000158935	ENST00000461745.1:c.421G>T	3.37:g.77526597G>T	ENSP00000417164:p.Asp141Tyr					ROBO2_ENST00000332191.8_Missense_Mutation_p.D141Y|ROBO2_ENST00000487694.3_Missense_Mutation_p.D157Y	p.D141Y	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN		Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)	3	1321	+			141			Ig-like C2-type 2.		O43608|Q19AB4|Q19AB5	Missense_Mutation	SNP	ENST00000461745.1	37	c.421G>T	CCDS43109.1	.	.	.	.	.	.	.	.	.	.	G	27.5	4.840379	0.91117	.	.	ENSG00000185008	ENST00000487694;ENST00000403211;ENST00000343019;ENST00000461745;ENST00000332191	T;T;T	0.70045	-0.45;-0.45;-0.45	5.75	5.75	0.90469	Immunoglobulin I-set (1);Immunoglobulin-like (1);	0.000000	0.45361	U	0.000361	D	0.84790	0.5550	M	0.85299	2.745	0.36732	D	0.881743	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.995;0.996;0.997	D	0.86324	0.1694	9	0.87932	D	0	.	19.9382	0.97149	0.0:0.0:1.0:0.0	.	157;141;141	Q19AB5;F8W703;Q9HCK4	.;.;ROBO2_HUMAN	Y	157;157;157;141;141	ENSP00000417335:D157Y;ENSP00000417164:D141Y;ENSP00000327536:D141Y	ENSP00000327536:D141Y	D	+	1	0	ROBO2	77609287	1.000000	0.71417	1.000000	0.80357	0.928000	0.56348	9.869000	0.99810	2.720000	0.93068	0.563000	0.77884	GAT		0.463	ROBO2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000352600.2	XM_031246		38	62	1	0	7.63091e-17	1	8.38933e-17	38	62					T	77526597	G	T	77526597	3	4	435	1	0	0	0	0	1	0	0	0	13514	942	33	5	433	5	ROBO2	3	77526597	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	379198	77526597	120495833	1933	22858											
ROBO2	6092	broad.mit.edu	37	chr3	77614127	77614127	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatcagtgagcaacagctggCagaccgtggcaaaccatgta	14	6	11	10	1	1	2	1	1	0	1	1	2	1	2	2	2	4	5	2	2	4	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:77614127C>T	ENST00000461745.1	+	12	2605	c.1705C>T	c.(1705-1707)Cag>Tag	p.Q569*	ROBO2_ENST00000332191.8_Nonsense_Mutation_p.Q569*|ROBO2_ENST00000487694.3_Nonsense_Mutation_p.Q585*	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	569	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				apoptotic process involved in luteolysis (GO:0061364)|axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|brain development (GO:0007420)|cellular response to hormone stimulus (GO:0032870)|central nervous system development (GO:0007417)|homophilic cell adhesion (GO:0007156)|metanephros development (GO:0001656)|negative regulation of negative chemotaxis (GO:0050925)|negative regulation of synapse assembly (GO:0051964)|olfactory bulb interneuron development (GO:0021891)|positive regulation of axonogenesis (GO:0050772)|retinal ganglion cell axon guidance (GO:0031290)|ureteric bud development (GO:0001657)	axolemma (GO:0030673)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	axon guidance receptor activity (GO:0008046)|identical protein binding (GO:0042802)	p.Q569K(1)		NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		CAACAGCTGGCAGACCGTGGC	0.448																																						ENST00000461745.1																			1	Substitution - Missense(1)	p.Q569K(1)	haematopoietic_and_lymphoid_tissue(1)	NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117						c.(1705-1707)Cag>Tag		roundabout, axon guidance receptor, homolog 2 (Drosophila)							66	64	65					3																	77614127		1973	4170	6143	SO:0001587	stop_gained	6092				apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding	g.chr3:77614127C>T	AF040991	CCDS43109.1, CCDS54609.1	3p12.3	2013-02-11	2001-11-28		ENSG00000185008	ENSG00000185008		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	10250	protein-coding gene	gene with protein product		602431	"roundabout (axon guidance receptor, Drosophila) homolog 2"			9458045	Standard	NM_002942		Approved	KIAA1568	uc003dpy.4	Q9HCK4	OTTHUMG00000158935	ENST00000461745.1:c.1705C>T	3.37:g.77614127C>T	ENSP00000417164:p.Gln569*					ROBO2_ENST00000332191.8_Nonsense_Mutation_p.Q569*|ROBO2_ENST00000487694.3_Nonsense_Mutation_p.Q585*	p.Q569*	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN		Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)	12	2605	+			569			Fibronectin type-III 1.		O43608|Q19AB4|Q19AB5	Nonsense_Mutation	SNP	ENST00000461745.1	37	c.1705C>T	CCDS43109.1	.	.	.	.	.	.	.	.	.	.	C	38	6.970247	0.97971	.	.	ENSG00000185008	ENST00000487694;ENST00000403211;ENST00000343019;ENST00000461745;ENST00000332191;ENST00000398467	.	.	.	6.02	6.02	0.97574	.	0.000000	0.43747	D	0.000533	.	.	.	.	.	.	0.80722	A	1.000000	.	.	.	.	.	.	.	.	.	.	0.23302	T	0.38	.	20.5373	0.99239	0.0:1.0:0.0:0.0	.	.	.	.	X	585;585;589;569;569;290	.	ENSP00000327536:Q569X	Q	+	1	0	ROBO2	77696817	1.000000	0.71417	1.000000	0.80357	0.913000	0.54294	7.818000	0.86416	2.857000	0.98124	0.650000	0.86243	CAG		0.448	ROBO2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000352600.2	XM_031246		4	14	0	0	0	1	0	4	14					T	77614127	C	T	77614127	4	4	435	1	0	0	0	0	0	1	0	0	13514	711	25	3	1753	3	ROBO2	3	77614127	Nonsense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	87530	77614127	120408303	1934	22859											
ROBO2	6092	broad.mit.edu	37	chr3	77617512	77617512	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccacaggcaagtgcagaaagAgctaggagatgtccttgtcc	12	7	12	10	0	0	3	0	0	0	3	2	4	2	3	3	2	2	3	3	2	3	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:77617512A>T	ENST00000461745.1	+	13	2798	c.1898A>T	c.(1897-1899)gAg>gTg	p.E633V	ROBO2_ENST00000332191.8_Missense_Mutation_p.E633V|ROBO2_ENST00000487694.3_Missense_Mutation_p.E649V	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	633					apoptotic process involved in luteolysis (GO:0061364)|axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|brain development (GO:0007420)|cellular response to hormone stimulus (GO:0032870)|central nervous system development (GO:0007417)|homophilic cell adhesion (GO:0007156)|metanephros development (GO:0001656)|negative regulation of negative chemotaxis (GO:0050925)|negative regulation of synapse assembly (GO:0051964)|olfactory bulb interneuron development (GO:0021891)|positive regulation of axonogenesis (GO:0050772)|retinal ganglion cell axon guidance (GO:0031290)|ureteric bud development (GO:0001657)	axolemma (GO:0030673)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	axon guidance receptor activity (GO:0008046)|identical protein binding (GO:0042802)			NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		GTGCAGAAAGAGCTAGGAGAT	0.443																																						ENST00000461745.1																			0				NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117						c.(1897-1899)gAg>gTg		roundabout, axon guidance receptor, homolog 2 (Drosophila)							111	113	112					3																	77617512		2076	4214	6290	SO:0001583	missense	6092				apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding	g.chr3:77617512A>T	AF040991	CCDS43109.1, CCDS54609.1	3p12.3	2013-02-11	2001-11-28		ENSG00000185008	ENSG00000185008		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	10250	protein-coding gene	gene with protein product		602431	"roundabout (axon guidance receptor, Drosophila) homolog 2"			9458045	Standard	NM_002942		Approved	KIAA1568	uc003dpy.4	Q9HCK4	OTTHUMG00000158935	ENST00000461745.1:c.1898A>T	3.37:g.77617512A>T	ENSP00000417164:p.Glu633Val					ROBO2_ENST00000332191.8_Missense_Mutation_p.E633V|ROBO2_ENST00000487694.3_Missense_Mutation_p.E649V	p.E633V	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN		Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)	13	2798	+			633					O43608|Q19AB4|Q19AB5	Missense_Mutation	SNP	ENST00000461745.1	37	c.1898A>T	CCDS43109.1	.	.	.	.	.	.	.	.	.	.	A	20.9	4.074133	0.76415	.	.	ENSG00000185008	ENST00000487694;ENST00000403211;ENST00000343019;ENST00000461745;ENST00000332191;ENST00000398467	T;T;T	0.63744	-0.06;-0.03;-0.03	5.3	5.3	0.74995	Fibronectin, type III (1);	0.000000	0.46758	D	0.000278	T	0.76849	0.4045	M	0.68952	2.095	0.44432	D	0.997353	D;D;D	0.67145	0.989;0.996;0.989	D;D;D	0.76071	0.945;0.987;0.945	T	0.78720	-0.2094	9	0.44086	T	0.13	.	15.5386	0.76021	1.0:0.0:0.0:0.0	.	649;633;633	Q19AB5;F8W703;Q9HCK4	.;.;ROBO2_HUMAN	V	649;649;653;633;633;354	ENSP00000417335:E649V;ENSP00000417164:E633V;ENSP00000327536:E633V	ENSP00000327536:E633V	E	+	2	0	ROBO2	77700202	1.000000	0.71417	0.946000	0.38457	0.470000	0.32858	9.221000	0.95188	2.137000	0.66172	0.528000	0.53228	GAG		0.443	ROBO2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000352600.2	XM_031246		15	25	0	0	0	1	0	15	25					T	77617512	A	T	77617512	3	4	435	1	0	0	0	0	1	0	0	0	13514	304	11	5	1950	5	ROBO2	3	77617512	Missense_Mutation	SNP	A	TCGA-XK-AAIW-01A-11D-A41K-08	3385	77617512	120404918	1935	22860											
ROBO2	6092	broad.mit.edu	37	chr3	77671486	77671486	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgttgcagatgatgatgcCgacgacgaagaggaagcttt	12	9	14	6	3	0	4	0	2	0	2	0	9	0	5	1	1	3	3	1	1	2	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:77671486C>T	ENST00000461745.1	+	23	4563	c.3663C>T	c.(3661-3663)gcC>gcT	p.A1221A	ROBO2_ENST00000332191.8_Silent_p.A1221A|ROBO2_ENST00000487694.3_Silent_p.A1237A	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	1221					apoptotic process involved in luteolysis (GO:0061364)|axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|brain development (GO:0007420)|cellular response to hormone stimulus (GO:0032870)|central nervous system development (GO:0007417)|homophilic cell adhesion (GO:0007156)|metanephros development (GO:0001656)|negative regulation of negative chemotaxis (GO:0050925)|negative regulation of synapse assembly (GO:0051964)|olfactory bulb interneuron development (GO:0021891)|positive regulation of axonogenesis (GO:0050772)|retinal ganglion cell axon guidance (GO:0031290)|ureteric bud development (GO:0001657)	axolemma (GO:0030673)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	axon guidance receptor activity (GO:0008046)|identical protein binding (GO:0042802)			NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		ATGATGATGCCGACGACGAAG	0.498																																						ENST00000461745.1																			0				NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117						c.(3661-3663)gcC>gcT		roundabout, axon guidance receptor, homolog 2 (Drosophila)							122	122	122					3																	77671486		1923	4148	6071	SO:0001819	synonymous_variant	6092				apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding	g.chr3:77671486C>T	AF040991	CCDS43109.1, CCDS54609.1	3p12.3	2013-02-11	2001-11-28		ENSG00000185008	ENSG00000185008		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	10250	protein-coding gene	gene with protein product		602431	"roundabout (axon guidance receptor, Drosophila) homolog 2"			9458045	Standard	NM_002942		Approved	KIAA1568	uc003dpy.4	Q9HCK4	OTTHUMG00000158935	ENST00000461745.1:c.3663C>T	3.37:g.77671486C>T						ROBO2_ENST00000332191.8_Silent_p.A1221A|ROBO2_ENST00000487694.3_Silent_p.A1237A	p.A1221A	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN		Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)	23	4563	+			1221					O43608|Q19AB4|Q19AB5	Silent	SNP	ENST00000461745.1	37	c.3663C>T	CCDS43109.1	.	.	.	.	.	.	.	.	.	.	c	0.036	-1.305500	0.01353	.	.	ENSG00000185008	ENST00000475334	.	.	.	5.56	0.436	0.16549	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.1656	0.03836	0.1058:0.2915:0.1526:0.4501	.	.	.	.	X	53	.	.	R	+	1	2	ROBO2	77754176	0.971000	0.33674	0.854000	0.33618	0.003000	0.03518	-1.082000	0.03400	-0.148000	0.11234	-1.874000	0.00550	CGA		0.498	ROBO2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000352600.2	XM_031246		23	29	0	0	0	1	0	23	29					T	77671486	C	T	77671486	2	4	435	1	0	0	0	0	0	0	0	1	13514	639	23	2		2	ROBO2	3	77671486	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	53974	77671486	120350944	1936	22861											
ROBO1	6091	broad.mit.edu	37	chr3	78987844	78987844	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcatcaggtctacttttccGtccatgtactatacgtaaga	10	15	6	10	2	3	1	2	0	1	1	5	1	5	1	2	1	3	2	2	1	5	8			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:78987844G>A	ENST00000464233.1	-	4	519	c.406C>T	c.(406-408)Cgg>Tgg	p.R136W	ROBO1_ENST00000436010.2_Missense_Mutation_p.R97W|ROBO1_ENST00000467549.1_Missense_Mutation_p.R97W|ROBO1_ENST00000495273.1_Missense_Mutation_p.R97W|RN7SL751P_ENST00000473281.2_RNA	NM_002941.3	NP_002932.1	Q9Y6N7	ROBO1_HUMAN	roundabout, axon guidance receptor, homolog 1 (Drosophila)	136	Ig-like C2-type 1.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|cell adhesion (GO:0007155)|cell migration involved in sprouting angiogenesis (GO:0002042)|chemorepulsion involved in postnatal olfactory bulb interneuron migration (GO:0021836)|homophilic cell adhesion (GO:0007156)|mammary duct terminal end bud growth (GO:0060763)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|negative regulation of negative chemotaxis (GO:0050925)|nervous system development (GO:0007399)|positive regulation of axonogenesis (GO:0050772)|Roundabout signaling pathway (GO:0035385)	axolemma (GO:0030673)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	axon guidance receptor activity (GO:0008046)|identical protein binding (GO:0042802)|LRR domain binding (GO:0030275)			breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1)	44		Lung SC(41;0.0257)|Lung NSC(201;0.0439)		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)		CTACTTTTCCGTCCATGTACT	0.473																																						ENST00000436010.2																			0				breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1)	44						c.(289-291)Cgg>Tgg		roundabout, axon guidance receptor, homolog 1 (Drosophila)							99	94	96					3																	78987844		1967	4162	6129	SO:0001583	missense	6091				activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis|Roundabout signaling pathway	cell surface|cytoplasm|integral to plasma membrane	axon guidance receptor activity|identical protein binding|LRR domain binding	g.chr3:78987844G>A	AF040990	CCDS46872.1, CCDS46872.2, CCDS54610.1, CCDS54611.1	3p12.3	2013-02-11	2001-11-28		ENSG00000169855	ENSG00000169855		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	10249	protein-coding gene	gene with protein product		602430	"roundabout (axon guidance receptor, Drosophila) homolog 1"			9458045, 9608531	Standard	NM_002941		Approved	DUTT1, FLJ21882, SAX3	uc003dqe.2	Q9Y6N7	OTTHUMG00000158843	ENST00000464233.1:c.406C>T	3.37:g.78987844G>A	ENSP00000420321:p.Arg136Trp					ROBO1_ENST00000467549.1_Missense_Mutation_p.R97W|ROBO1_ENST00000464233.1_Missense_Mutation_p.R136W|ROBO1_ENST00000495273.1_Missense_Mutation_p.R97W	p.R97W			Q9Y6N7	ROBO1_HUMAN		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)	2	1286	-		Lung SC(41;0.0257)|Lung NSC(201;0.0439)	136			Ig-like C2-type 1.		B2RXI1|D3DU36|E9PD49|Q1RMC7|Q7Z300|Q9BUS7	Missense_Mutation	SNP	ENST00000464233.1	37	c.289C>T	CCDS54611.1	.	.	.	.	.	.	.	.	.	.	G	18.62	3.663890	0.67700	.	.	ENSG00000169855	ENST00000436010;ENST00000398412;ENST00000464233;ENST00000495273;ENST00000467549;ENST00000398414	T;T;T;T	0.68181	-0.31;-0.31;-0.31;-0.31	5.53	2.66	0.31614	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);	0.000000	0.85682	D	0.000000	T	0.78742	0.4331	M	0.66297	2.02	0.51233	D	0.999911	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	T	0.77016	-0.2744	9	.	.	.	.	14.5741	0.68232	0.0:0.0:0.6173:0.3827	.	136;97;97;97	Q9Y6N7;B2RXI1;E9PD49;Q9Y6N7-4	ROBO1_HUMAN;.;.;.	W	97;97;136;97;97;136	ENSP00000406043:R97W;ENSP00000420321:R136W;ENSP00000420637:R97W;ENSP00000417992:R97W	.	R	-	1	2	ROBO1	79070534	1.000000	0.71417	0.993000	0.49108	0.804000	0.45430	4.768000	0.62293	0.259000	0.21709	-0.493000	0.04662	CGG		0.473	ROBO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352610.1	NM_002941		13	10	0	0	0	1	0	13	10					A	78987844	G	A	78987844	3	1	435	1	0	0	0	0	1	0	0	0	13513	1144	40	1	4674	1	ROBO1	3	78987844	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	1316358	78987844	119034586	1937	22862											
CADM2	253559	broad.mit.edu	37	chr3	85851323	85851323	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcaaatccagctcaacagaCtctgtactttgacgacaaga	14	9	7	11	1	3	3	2	1	1	2	4	4	4	3	1	0	3	2	1	0	4	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:85851323C>T	ENST00000407528.2	+	2	250	c.188C>T	c.(187-189)aCt>aTt	p.T63I	CADM2_ENST00000383699.3_Missense_Mutation_p.T72I|CADM2-AS2_ENST00000467225.1_RNA|CADM2_ENST00000405615.2_Missense_Mutation_p.T65I	NM_001167674.1	NP_001161146.1	Q8N3J6	CADM2_HUMAN	cell adhesion molecule 2	63	Ig-like V-type.				adherens junction organization (GO:0034332)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|neuronal cell body membrane (GO:0032809)|plasma membrane (GO:0005886)|synapse (GO:0045202)				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(1)|prostate(1)|skin(4)	38		Lung NSC(201;0.0148)		LUSC - Lung squamous cell carcinoma(29;0.000815)|Lung(72;0.00304)|BRCA - Breast invasive adenocarcinoma(55;0.156)|Epithelial(33;0.157)		GCTCAACAGACTCTGTACTTT	0.353																																						ENST00000383699.3																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(1)|prostate(1)|skin(4)	38						c.(214-216)aCt>aTt		cell adhesion molecule 2							66	57	60					3																	85851323		2203	4300	6503	SO:0001583	missense	253559				adherens junction organization|cell junction assembly	integral to membrane|plasma membrane		g.chr3:85851323C>T	AF538973	CCDS33792.1, CCDS54613.1, CCDS54614.1	3p12.2	2013-01-11	2007-02-07	2007-02-07	ENSG00000175161	ENSG00000175161		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / C2-set domain containing"	29849	protein-coding gene	gene with protein product	"nectin-like 3"	609938	"immunoglobulin superfamily, member 4D"	IGSF4D			Standard	NM_153184		Approved	NECL3, Necl-3, SynCAM2	uc003dqj.3	Q8N3J6	OTTHUMG00000158990	ENST00000407528.2:c.188C>T	3.37:g.85851323C>T	ENSP00000384575:p.Thr63Ile					CADM2_ENST00000405615.2_Missense_Mutation_p.T65I|CADM2-AS2_ENST00000467225.1_RNA|CADM2_ENST00000407528.2_Missense_Mutation_p.T63I	p.T72I	NM_001167675.1|NM_001256504.1|NM_001256505.1	NP_001161147.1|NP_001243433.1|NP_001243434.1	Q8N3J6	CADM2_HUMAN		LUSC - Lung squamous cell carcinoma(29;0.000815)|Lung(72;0.00304)|BRCA - Breast invasive adenocarcinoma(55;0.156)|Epithelial(33;0.157)	3	842	+		Lung NSC(201;0.0148)	63			Ig-like V-type.		G3XHN7|G3XHN8|Q3KQY9|Q658Q7|Q8IZP8	Missense_Mutation	SNP	ENST00000407528.2	37	c.215C>T	CCDS54614.1	.	.	.	.	.	.	.	.	.	.	C	24.7	4.557299	0.86231	.	.	ENSG00000175161	ENST00000383699;ENST00000407528;ENST00000405615	T;T;T	0.65732	-0.17;-0.17;-0.17	5.27	5.27	0.74061	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.78502	0.4293	M	0.72576	2.205	0.80722	D	1	D;B;P	0.57257	0.979;0.289;0.858	D;B;P	0.68483	0.958;0.371;0.784	T	0.77598	-0.2528	10	0.44086	T	0.13	.	19.2384	0.93871	0.0:1.0:0.0:0.0	.	65;72;63	Q8N3J6-3;G3XHN4;Q8N3J6	.;.;CADM2_HUMAN	I	72;63;65	ENSP00000373200:T72I;ENSP00000384575:T63I;ENSP00000384193:T65I	ENSP00000373200:T72I	T	+	2	0	CADM2	85934013	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.445000	0.80570	2.621000	0.88768	0.544000	0.68410	ACT		0.353	CADM2-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352822.1	NM_153184		22	36	0	0	0	1	0	22	36					T	85851323	C	T	85851323	3	4	435	1	0	0	0	0	1	0	0	0	2567	565	20	3	265	3	CADM2	3	85851323	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	6863479	85851323	112171107	1938	22863											
POU1F1	5449	broad.mit.edu	37	chr3	87325526	87325526	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtagacactcggcagcactGtgatgcattatcagaggcag	11	8	13	9	1	1	3	1	1	0	2	2	3	1	3	0	3	2	5	0	3	2	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:87325526G>A	ENST00000350375.2	-	1	211	c.87C>T	c.(85-87)caC>caT	p.H29H	POU1F1_ENST00000344265.3_Silent_p.H29H|POU1F1_ENST00000560656.1_Silent_p.H29H	NM_000306.2	NP_000297.1	P28069	PIT1_HUMAN	POU class 1 homeobox 1	29					B cell differentiation (GO:0030183)|cell fate specification (GO:0001708)|determination of adult lifespan (GO:0008340)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nuclear transport (GO:0051169)|positive regulation of cell proliferation (GO:0008284)|positive regulation of inositol trisphosphate biosynthetic process (GO:0032962)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of insulin-like growth factor receptor signaling pathway (GO:0043567)|somatotropin secreting cell development (GO:0060133)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II transcription coactivator activity (GO:0001105)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			central_nervous_system(1)|large_intestine(5)|liver(1)|lung(7)|prostate(2)|skin(2)	18	all_cancers(8;0.104)|Lung SC(3;0.184)	Lung NSC(201;0.0777)		LUSC - Lung squamous cell carcinoma(29;0.00229)|Lung(72;0.00677)		CGGCAGCACTGTGATGCATTA	0.463																																						ENST00000350375.2																			0				central_nervous_system(1)|large_intestine(5)|liver(1)|lung(7)|prostate(2)|skin(2)	18						c.(85-87)caC>caT		POU class 1 homeobox 1							114	115	115					3																	87325526		2203	4300	6503	SO:0001819	synonymous_variant	5449				negative regulation of cell proliferation|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr3:87325526G>A	D10216	CCDS2919.1, CCDS46873.1	3p11.2	2011-06-20	2007-07-13		ENSG00000064835	ENSG00000064835		"Homeoboxes / POU class"	9210	protein-coding gene	gene with protein product	"growth hormone factor 1"	173110	"POU domain class 1, transcription factor 1"	PIT1		1956794	Standard	NM_001122757		Approved	GHF-1, POU1F1a	uc010hoj.1	P28069	OTTHUMG00000158992	ENST00000350375.2:c.87C>T	3.37:g.87325526G>A						POU1F1_ENST00000560656.1_Silent_p.H29H|POU1F1_ENST00000344265.3_Silent_p.H29H	p.H29H	NM_000306.2	NP_000297.1	P28069	PIT1_HUMAN		LUSC - Lung squamous cell carcinoma(29;0.00229)|Lung(72;0.00677)	1	211	-	all_cancers(8;0.104)|Lung SC(3;0.184)	Lung NSC(201;0.0777)	29					O75757|Q15132|Q15133|Q9UD34|Q9UEL3	Silent	SNP	ENST00000350375.2	37	c.87C>T	CCDS2919.1																																																																																				0.463	POU1F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352827.1	NM_000306		18	39	0	0	0	1	0	18	39					A	87325526	G	A	87325526	2	1	435	1	0	0	0	0	0	0	0	1	12269	1368	48	3		3	POU1F1	3	87325526	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	1474203	87325526	110696904	1939	22864											
CGGBP1	8545	broad.mit.edu	37	chr3	88104943	88104943	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggtatgagtctttgacttgaGgtggtcactaatggcagact	9	13	13	6	0	2	4	1	3	1	1	2	4	2	4	0	4	0	2	0	4	2	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:88104943G>A	ENST00000398392.2	-	1	1516	c.184C>T	c.(184-186)Ctc>Ttc	p.L62F	CGGBP1_ENST00000482016.1_Missense_Mutation_p.L62F|CGGBP1_ENST00000309534.6_Missense_Mutation_p.L62F|CGGBP1_ENST00000474441.1_5'Flank|CGGBP1_ENST00000462901.1_Missense_Mutation_p.L62F			Q9UFW8	CGBP1_HUMAN	CGG triplet repeat binding protein 1	62					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)			kidney(1)|large_intestine(2)|lung(2)	5		Lung NSC(201;0.0283)		LUSC - Lung squamous cell carcinoma(29;0.00359)|Lung(72;0.00677)		TTTGACTTGAGGTGGTCACTA	0.458																																						ENST00000398392.2																			0				kidney(1)|large_intestine(2)|lung(2)	5						c.(184-186)Ctc>Ttc		CGG triplet repeat binding protein 1							94	93	93					3																	88104943		1964	4146	6110	SO:0001583	missense	8545				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	double-stranded DNA binding	g.chr3:88104943G>A	AJ000258	CCDS43111.1	3p12-p11.1	2008-07-18			ENSG00000163320	ENSG00000163320			1888	protein-coding gene	gene with protein product	"p20-CGG binding protein"	603363				9201980, 14667814	Standard	NM_001195308		Approved	p20-CGGBP, CGGBP	uc003dqt.3	Q9UFW8	OTTHUMG00000159009	ENST00000398392.2:c.184C>T	3.37:g.88104943G>A	ENSP00000381429:p.Leu62Phe					CGGBP1_ENST00000309534.6_Missense_Mutation_p.L62F|CGGBP1_ENST00000482016.1_Missense_Mutation_p.L62F|CGGBP1_ENST00000462901.1_Missense_Mutation_p.L62F	p.L62F			Q9UFW8	CGBP1_HUMAN		LUSC - Lung squamous cell carcinoma(29;0.00359)|Lung(72;0.00677)	1	1516	-		Lung NSC(201;0.0283)	62					D3DU38|O15183	Missense_Mutation	SNP	ENST00000398392.2	37	c.184C>T	CCDS43111.1	.	.	.	.	.	.	.	.	.	.	G	19.48	3.835659	0.71373	.	.	ENSG00000163320	ENST00000309534;ENST00000398392;ENST00000482016;ENST00000462901;ENST00000467332	.	.	.	5.84	5.84	0.93424	.	0.000000	0.35407	U	0.003233	T	0.66674	0.2813	L	0.32530	0.975	0.44816	D	0.997828	D	0.62365	0.991	D	0.65323	0.934	T	0.68435	-0.5409	9	0.87932	D	0	-12.7599	17.366	0.87364	0.0:0.0:1.0:0.0	.	62	Q9UFW8	CGBP1_HUMAN	F	62	.	ENSP00000381428:L62F	L	-	1	0	CGGBP1	88187633	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.328000	0.72915	2.778000	0.95560	0.558000	0.71614	CTC		0.458	CGGBP1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352955.1	NM_001008390		28	56	0	0	0	1	0	28	56					A	88104943	G	A	88104943	3	1	435	1	0	0	0	0	1	0	0	0	3302	1000	35	3	323	3	CGGBP1	3	88104943	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	779417	88104943	109917487	1940	22865											
ZNF654	55279	broad.mit.edu	37	chr3	88189696	88189696	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ataagcttgatagaccaaaaGatgcctgacatagagccaaa	18	7	8	8	0	0	5	0	2	0	3	0	5	0	5	3	0	3	1	3	0	6	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:88189696G>T	ENST00000309495.5	+	1	1443	c.1236G>T	c.(1234-1236)aaG>aaT	p.K412N	CGGBP1_ENST00000462901.1_Intron	NM_018293.2	NP_060763.2	Q8IZM8	ZN654_HUMAN	zinc finger protein 654	412					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(1)|large_intestine(2)|lung(1)|ovary(2)|pancreas(1)|prostate(3)	12		Lung NSC(201;0.0283)		UCEC - Uterine corpus endometrioid carcinoma (27;0.194)|LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00661)		TAGACCAAAAGATGCCTGACA	0.343																																						ENST00000309495.5																			0				breast(2)|endometrium(1)|large_intestine(2)|lung(1)|ovary(2)|pancreas(1)|prostate(3)	12						c.(1234-1236)aaG>aaT		zinc finger protein 654							70	71	71					3																	88189696		1859	4095	5954	SO:0001583	missense	55279				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr3:88189696G>T	AF543494	CCDS46874.1	3p11.1	2005-01-10			ENSG00000175105	ENSG00000175105			25612	protein-coding gene	gene with protein product							Standard	NM_018293		Approved	FLJ10997, FLJ21142	uc003dqv.3	Q8IZM8	OTTHUMG00000159097	ENST00000309495.5:c.1236G>T	3.37:g.88189696G>T	ENSP00000312141:p.Lys412Asn					CGGBP1_ENST00000462901.1_Intron	p.K412N	NM_018293.2	NP_060763.2	Q8IZM8	ZN654_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.194)|LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00661)	1	1443	+		Lung NSC(201;0.0283)	412					Q9H791|Q9NV14	Missense_Mutation	SNP	ENST00000309495.5	37	c.1236G>T	CCDS46874.1	.	.	.	.	.	.	.	.	.	.	G	12.68	2.011338	0.35511	.	.	ENSG00000175105	ENST00000309495	T	0.11385	2.78	5.44	5.44	0.79542	.	.	.	.	.	T	0.11879	0.0289	L	0.44542	1.39	0.33647	D	0.608046	P	0.42692	0.787	B	0.37091	0.241	T	0.14587	-1.0467	9	0.31617	T	0.26	.	18.2307	0.89934	0.0:0.0:1.0:0.0	.	412	Q8IZM8	ZN654_HUMAN	N	412	ENSP00000312141:K412N	ENSP00000312141:K412N	K	+	3	2	ZNF654	88272386	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.431000	0.44775	2.536000	0.85505	0.591000	0.81541	AAG		0.343	ZNF654-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353285.2	NM_018293		18	28	1	0	2.4624e-09	1	2.6129e-09	18	28					T	88189696	G	T	88189696	3	4	435	1	0	0	0	0	1	0	0	0	18064	933	33	5	1238	5	ZNF654	3	88189696	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	84753	88189696	109832734	1941	22866											
EPHA6	285220	broad.mit.edu	37	chr3	97167521	97167521	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcacatccgagtgagaactgCgacaggatacagtggctaca	13	7	11	10	2	1	1	1	1	0	1	2	5	2	2	1	2	4	1	1	2	3	2	rs368808214		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:97167521C>T	ENST00000389672.5	+	7	1879	c.1841C>T	c.(1840-1842)gCg>gTg	p.A614V	EPHA6_ENST00000502694.1_5'UTR|EPHA6_ENST00000514100.1_5'UTR|EPHA6_ENST00000442602.2_5'UTR	NM_001080448.2	NP_001073917.2	Q9UF33	EPHA6_HUMAN	EPH receptor A6	520						integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						GTGAGAACTGCGACAGGATAC	0.413																																						ENST00000389672.5																			0				NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						c.(1840-1842)gCg>gTg		EPH receptor A6		C	VAL/ALA,	1,3803		0,1,1901	103	101	102		1841,	5.4	0.9	3		102	0,8278		0,0,4139	no	missense,utr-5	EPHA6	NM_001080448.2,NM_173655.2	64,	0,1,6040	TT,TC,CC		0.0,0.0263,0.0083	possibly-damaging,	614/1131,	97167521	1,12081	1902	4139	6041	SO:0001583	missense	285220					integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr3:97167521C>T	AK092565	CCDS46876.1, CCDS54616.1, CCDS63697.1	3q12.1	2013-02-11	2004-10-28		ENSG00000080224	ENSG00000080224		"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	19296	protein-coding gene	gene with protein product		600066				12471243	Standard	NM_001080448		Approved	FLJ35246	uc010how.1	Q9UF33	OTTHUMG00000159208	ENST00000389672.5:c.1841C>T	3.37:g.97167521C>T	ENSP00000374323:p.Ala614Val					EPHA6_ENST00000514100.1_5'UTR|EPHA6_ENST00000502694.1_5'UTR|EPHA6_ENST00000442602.2_5'UTR	p.A614V	NM_001080448.2	NP_001073917.2	Q9UF33	EPHA6_HUMAN			7	1879	+			519					D6RAL5	Missense_Mutation	SNP	ENST00000389672.5	37	c.1841C>T	CCDS46876.1	.	.	.	.	.	.	.	.	.	.	C	10.65	1.410134	0.25465	2.63E-4	0.0	ENSG00000080224	ENST00000389672	T	0.57907	0.37	5.41	5.41	0.78517	.	.	.	.	.	T	0.55386	0.1917	L	0.37466	1.105	0.80722	D	1	.	.	.	.	.	.	T	0.43829	-0.9367	7	0.19590	T	0.45	.	19.2114	0.93757	0.0:1.0:0.0:0.0	.	.	.	.	V	614	ENSP00000374323:A614V	ENSP00000374323:A614V	A	+	2	0	EPHA6	98650211	1.000000	0.71417	0.856000	0.33681	0.353000	0.29299	5.743000	0.68655	2.544000	0.85801	0.655000	0.94253	GCG		0.413	EPHA6-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353845.3	NM_001080448		17	32	0	0	0	1	0	17	32					T	97167521	C	T	97167521	3	4	435	1	0	0	0	0	1	0	0	0	5171	768	27	1	1867	1	EPHA6	3	97167521	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	8977825	97167521	100854909	1942	22867											
ARL6	84100	broad.mit.edu	37	chr3	97503809	97503809	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cattacacagagaaggccaaGctattatttttgtcattgat	13	14	7	7	0	1	2	1	1	0	1	1	3	1	2	1	1	2	1	1	1	5	6			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:97503809G>T	ENST00000463745.1	+	5	742	c.265G>T	c.(265-267)Gct>Tct	p.A89S	ARL6_ENST00000335979.2_Missense_Mutation_p.A89S|ARL6_ENST00000394206.1_Missense_Mutation_p.A89S|ARL6_ENST00000496713.1_3'UTR	NM_001278293.1	NP_001265222.1	Q9H0F7	ARL6_HUMAN	ADP-ribosylation factor-like 6	89			A -> V (in RP55). {ECO:0000269|PubMed:19956407}.		cilium assembly (GO:0042384)|determination of left/right symmetry (GO:0007368)|fat cell differentiation (GO:0045444)|melanosome transport (GO:0032402)|protein polymerization (GO:0051258)|protein targeting to membrane (GO:0006612)|small GTPase mediated signal transduction (GO:0007264)|visual perception (GO:0007601)|Wnt signaling pathway (GO:0016055)	axonemal microtubule (GO:0005879)|axoneme (GO:0005930)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|membrane coat (GO:0030117)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|metal ion binding (GO:0046872)|phospholipid binding (GO:0005543)			large_intestine(1)|lung(4)	5		Lung NSC(201;0.0193)|Prostate(884;0.174)		LUSC - Lung squamous cell carcinoma(29;0.0118)|Lung(72;0.0189)		AGAAGGCCAAGCTATTATTTT	0.318																																						ENST00000463745.1																			0				large_intestine(1)|lung(4)	5						c.(265-267)Gct>Tct		ADP-ribosylation factor-like 6							139	136	137					3																	97503809		2203	4300	6503	SO:0001583	missense	84100				cilium assembly|determination of left/right symmetry|melanosome transport|protein polymerization|protein targeting to membrane|small GTPase mediated signal transduction|visual perception|Wnt receptor signaling pathway	axonemal microtubule|cilium axoneme|cilium membrane|membrane coat|microtubule basal body	GTP binding|metal ion binding|phospholipid binding|protein binding	g.chr3:97503809G>T	BC024239	CCDS2928.1	3q11.2	2014-05-09			ENSG00000113966	ENSG00000113966		"ADP-ribosylation factors-like", "ADP-ribosylation factors"	13210	protein-coding gene	gene with protein product		608845		BBS3		15258860, 15314642, 21282186	Standard	NM_032146		Approved	RP55	uc003drv.3	Q9H0F7	OTTHUMG00000159189	ENST00000463745.1:c.265G>T	3.37:g.97503809G>T	ENSP00000419619:p.Ala89Ser					ARL6_ENST00000335979.2_Missense_Mutation_p.A89S|ARL6_ENST00000496713.1_3'UTR|ARL6_ENST00000394206.1_Missense_Mutation_p.A89S	p.A89S	NM_001278293.1	NP_001265222.1	Q9H0F7	ARL6_HUMAN		LUSC - Lung squamous cell carcinoma(29;0.0118)|Lung(72;0.0189)	5	742	+		Lung NSC(201;0.0193)|Prostate(884;0.174)	89		A -> V (in RP55).			A8KA93|D3DN31	Missense_Mutation	SNP	ENST00000463745.1	37	c.265G>T	CCDS2928.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.372014	0.82573	.	.	ENSG00000113966	ENST00000463745;ENST00000462412;ENST00000335979;ENST00000394206	D;D;D;D	0.84516	-1.86;-1.86;-1.86;-1.86	5.36	5.36	0.76844	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.92678	0.7673	M	0.91872	3.25	0.80722	D	1	P	0.35745	0.518	P	0.48840	0.592	D	0.93358	0.6724	10	0.87932	D	0	.	19.0566	0.93067	0.0:0.0:1.0:0.0	.	89	Q9H0F7	ARL6_HUMAN	S	89	ENSP00000419619:A89S;ENSP00000418740:A89S;ENSP00000337722:A89S;ENSP00000377756:A89S	ENSP00000337722:A89S	A	+	1	0	ARL6	98986499	1.000000	0.71417	1.000000	0.80357	0.690000	0.40134	9.325000	0.96381	2.658000	0.90341	0.557000	0.71058	GCT		0.318	ARL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353756.1	NM_032146		14	34	1	0	0.00244969	1	0.00248438	14	34					T	97503809	G	T	97503809	3	4	435	1	0	0	0	0	1	0	0	0	941	971	34	5	279	5	ARL6	3	97503809	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	336288	97503809	100518621	1943	22868											
CRYBG3	131544	broad.mit.edu	37	chr3	97596502	97596502	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaagaagaggaggaggaggCagcagtattgcataaaggag	16	4	18	3	0	0	2	0	0	0	2	0	7	0	7	0	6	2	4	0	6	5	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:97596502C>T	ENST00000182096.4	+	1	684	c.620C>T	c.(619-621)gCa>gTa	p.A207V		NM_153605.3	NP_705833.3	Q68DQ2	CRBG3_HUMAN	beta-gamma crystallin domain containing 3	2155							carbohydrate binding (GO:0030246)			breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(10)|stomach(1)|upper_aerodigestive_tract(2)	32						GAGGAGGAGGCAGCAGTATTG	0.468																																						ENST00000182096.4																			0				breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(10)|stomach(1)|upper_aerodigestive_tract(2)	32						c.(619-621)gCa>gTa		beta-gamma crystallin domain containing 3							66	72	70					3																	97596502		2143	4271	6414	SO:0001583	missense	131544							g.chr3:97596502C>T			3q11.2	2008-09-30			ENSG00000080200	ENSG00000080200			34427	protein-coding gene	gene with protein product							Standard	NM_153605		Approved	DKFZp667G2110	uc021xbn.2	Q68DQ2	OTTHUMG00000159187	ENST00000182096.4:c.620C>T	3.37:g.97596502C>T	ENSP00000182096:p.Ala207Val						p.A207V	NM_153605.3	NP_705833.3					1	684	+								B4DLE8|F6VHI2|Q4G0V8|Q7Z4R9|Q86VD0|Q8N262|Q8N7F1|Q8NDQ8	Missense_Mutation	SNP	ENST00000182096.4	37	c.620C>T		.	.	.	.	.	.	.	.	.	.	C	5.369	0.253268	0.10185	.	.	ENSG00000080200	ENST00000182096	T	0.74421	-0.84	5.52	-1.62	0.08372	.	1.134180	0.06778	N	0.784789	T	0.46132	0.1377	N	0.03608	-0.345	0.23282	N	0.997989	B	0.02656	0.0	B	0.01281	0.0	T	0.30621	-0.9972	10	0.54805	T	0.06	.	1.3788	0.02226	0.4135:0.2809:0.1777:0.1279	.	207	Q68DQ2	CRBG3_HUMAN	V	207	ENSP00000182096:A207V	ENSP00000182096:A207V	A	+	2	0	CRYBG3	99079192	0.937000	0.31787	0.002000	0.10522	0.006000	0.05464	2.028000	0.41088	-0.155000	0.11098	-0.410000	0.06199	GCA		0.468	CRYBG3-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000353751.1	NM_153605		14	21	0	0	0	1	0	14	21					T	97596502	C	T	97596502	3	4	435	1	0	0	0	0	1	0	0	0	3913	710	25	3	622	3	CRYBG3	3	97596502	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	92693	97596502	100425928	1944	22869											
MINA	84864	broad.mit.edu	37	chr3	97664085	97664085	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aataccaggctttccttttcCtcatctgtagtaagtttcag	9	16	6	10	0	3	0	2	0	1	0	5	0	5	0	3	1	1	4	3	1	4	7			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:97664085C>A	ENST00000333396.7	-	10	1923	c.1341G>T	c.(1339-1341)gaG>gaT	p.E447D	MINA_ENST00000394198.2_Missense_Mutation_p.E447D|MINA_ENST00000360258.4_Missense_Mutation_p.E446D	NM_001042533.2|NM_032778.5	NP_001035998.1|NP_116167.3			MYC induced nuclear antigen											breast(2)|endometrium(1)|large_intestine(1)|lung(8)|ovary(1)	13						TTTCCTTTTCCTCATCTGTAG	0.383																																						ENST00000333396.6																			0				breast(2)|endometrium(1)|large_intestine(1)|lung(8)|ovary(1)	13						c.(1339-1341)gaG>gaT		MYC induced nuclear antigen							120	125	123					3																	97664085		2203	4300	6503	SO:0001583	missense	84864				ribosome biogenesis	cytoplasm|nucleolus		g.chr3:97664085C>A	AB083189	CCDS2929.1, CCDS43114.1	3q22.1	2005-07-22			ENSG00000170854	ENSG00000170854			19441	protein-coding gene	gene with protein product		612049				12091391	Standard	NM_001042533		Approved	MINA53, FLJ14393, mdig	uc003dsb.1	Q8IUF8	OTTHUMG00000160107	ENST00000333396.7:c.1341G>T	3.37:g.97664085C>A	ENSP00000328251:p.Glu447Asp					MINA_ENST00000394198.2_Missense_Mutation_p.E447D|MINA_ENST00000360258.4_Missense_Mutation_p.E446D	p.E447D	NM_001042533.2|NM_032778.5	NP_001035998.1|NP_116167.3	Q8IUF8	MINA_HUMAN			10	1923	-			447						Missense_Mutation	SNP	ENST00000333396.7	37	c.1341G>T	CCDS43114.1	.	.	.	.	.	.	.	.	.	.	C	15.53	2.862356	0.51482	.	.	ENSG00000170854	ENST00000442492;ENST00000333396;ENST00000394198;ENST00000360258	T;T;T	0.13657	2.58;2.58;2.57	6.02	1.48	0.22813	.	0.215797	0.46442	D	0.000296	T	0.11537	0.0281	M	0.72479	2.2	0.80722	D	1	B;B	0.31503	0.326;0.219	B;B	0.32090	0.14;0.066	T	0.08911	-1.0699	10	0.19147	T	0.46	-35.4877	1.5538	0.02580	0.1439:0.4039:0.1411:0.311	.	446;447	Q8IUF8-4;Q8IUF8	.;MINA_HUMAN	D	193;447;447;446	ENSP00000328251:E447D;ENSP00000377748:E447D;ENSP00000353395:E446D	ENSP00000328251:E447D	E	-	3	2	MINA	99146775	0.147000	0.22687	1.000000	0.80357	0.905000	0.53344	-0.484000	0.06528	0.860000	0.35481	0.655000	0.94253	GAG		0.383	MINA-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000359244.3	NM_032778		26	60	1	0	7.76418e-22	1	8.6294e-22	26	60					A	97664085	C	A	97664085	3	1	435	1	0	0	0	0	1	0	0	0	9586	680	24	5	60	5	MINA	3	97664085	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	67583	97664085	100358345	1945	22870											
MINA	84864	broad.mit.edu	37	chr3	97677986	97677986	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcacagtggggtggtagaggCgccagtgtttctctccctcc	5	10	14	12	1	1	1	0	0	1	1	4	1	3	1	3	4	0	3	3	4	1	2	rs199876198	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:97677986C>T	ENST00000333396.7	-	4	1172	c.590G>A	c.(589-591)cGc>cAc	p.R197H	MINA_ENST00000394198.2_Missense_Mutation_p.R197H|MINA_ENST00000330299.2_Missense_Mutation_p.R197H|MINA_ENST00000360258.4_Missense_Mutation_p.R197H	NM_001042533.2|NM_032778.5	NP_001035998.1|NP_116167.3			MYC induced nuclear antigen											breast(2)|endometrium(1)|large_intestine(1)|lung(8)|ovary(1)	13						GTGGTAGAGGCGCCAGTGTTT	0.562													C|||	2	0.000399361	0	0	5008	,	,		14658	0		0.002	False		,,,				2504	0					ENST00000333396.6																			0				breast(2)|endometrium(1)|large_intestine(1)|lung(8)|ovary(1)	13						c.(589-591)cGc>cAc		MYC induced nuclear antigen							62	53	56					3																	97677986		2203	4300	6503	SO:0001583	missense	84864				ribosome biogenesis	cytoplasm|nucleolus		g.chr3:97677986C>T	AB083189	CCDS2929.1, CCDS43114.1	3q22.1	2005-07-22			ENSG00000170854	ENSG00000170854			19441	protein-coding gene	gene with protein product		612049				12091391	Standard	NM_001042533		Approved	MINA53, FLJ14393, mdig	uc003dsb.1	Q8IUF8	OTTHUMG00000160107	ENST00000333396.7:c.590G>A	3.37:g.97677986C>T	ENSP00000328251:p.Arg197His					MINA_ENST00000394198.2_Missense_Mutation_p.R197H|MINA_ENST00000360258.4_Missense_Mutation_p.R197H|MINA_ENST00000330299.2_Missense_Mutation_p.R197H	p.R197H	NM_001042533.2|NM_032778.5	NP_001035998.1|NP_116167.3	Q8IUF8	MINA_HUMAN			4	1172	-			197			JmjC.			Missense_Mutation	SNP	ENST00000333396.7	37	c.590G>A	CCDS43114.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	21.4	4.139328	0.77775	.	.	ENSG00000170854	ENST00000333396;ENST00000394198;ENST00000360258;ENST00000330299;ENST00000507612	T;T;T;T;T	0.25749	1.78;1.78;1.78;1.78;1.78	5.71	4.83	0.62350	Cupin, JmjC-type (1);Transcription factor jumonji/aspartyl beta-hydroxylase (2);RmlC-like jelly roll fold (1);	0.104471	0.64402	D	0.000007	T	0.40546	0.1121	M	0.78801	2.425	0.58432	D	0.999997	P;P	0.45715	0.837;0.865	B;P	0.47470	0.412;0.548	T	0.42999	-0.9418	10	0.59425	D	0.04	-6.9377	14.8812	0.70534	0.0:0.9309:0.0:0.0691	.	197;197	Q8IUF8-4;Q8IUF8	.;MINA_HUMAN	H	197;197;197;197;43	ENSP00000328251:R197H;ENSP00000377748:R197H;ENSP00000353395:R197H;ENSP00000327424:R197H;ENSP00000424530:R43H	ENSP00000327424:R197H	R	-	2	0	MINA	99160676	0.999000	0.42202	1.000000	0.80357	0.994000	0.84299	4.183000	0.58317	1.403000	0.46800	0.655000	0.94253	CGC		0.562	MINA-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000359244.3	NM_032778		11	14	0	0	0	1	0	11	14					T	97677986	C	T	97677986	3	4	435	1	0	0	0	0	1	0	0	0	9586	768	27	1	835	1	MINA	3	97677986	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	13901	97677986	100344444	1946	22871											
OR5H14	403273	broad.mit.edu	37	chr3	97868711	97868711	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tcatgctttaatccatgaagGatttttattcagactaacct	12	16	5	8	0	2	2	2	1	0	1	3	3	3	3	2	1	2	1	2	1	4	7			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:97868711G>A	ENST00000437310.1	+	1	542	c.482G>A	c.(481-483)gGa>gAa	p.G161E	RP11-343D2.11_ENST00000508964.1_RNA	NM_001005514.1	NP_001005514.1	A6NHG9	O5H14_HUMAN	olfactory receptor, family 5, subfamily H, member 14	161						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	31						ATCCATGAAGGATTTTTATTC	0.348																																						ENST00000437310.1																			0				breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	31						c.(481-483)gGa>gAa		olfactory receptor, family 5, subfamily H, member 14							102	104	103					3																	97868711		2202	4300	6502	SO:0001583	missense	403273				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr3:97868711G>A		CCDS33798.1	3q11.2	2013-09-23			ENSG00000236032	ENSG00000236032		"GPCR / Class A : Olfactory receptors"	31286	protein-coding gene	gene with protein product							Standard	NM_001005514		Approved		uc003dsg.1	A6NHG9	OTTHUMG00000160079	ENST00000437310.1:c.482G>A	3.37:g.97868711G>A	ENSP00000401706:p.Gly161Glu						p.G161E	NM_001005514.1	NP_001005514.1	A6NHG9	O5H14_HUMAN			1	542	+			161					B9EH15	Missense_Mutation	SNP	ENST00000437310.1	37	c.482G>A	CCDS33798.1	.	.	.	.	.	.	.	.	.	.	G	7.995	0.754074	0.15778	.	.	ENSG00000236032	ENST00000437310	T	0.37411	1.2	2.49	-1.46	0.08800	GPCR, rhodopsin-like superfamily (1);	0.899723	0.09201	N	0.834639	T	0.43743	0.1261	M	0.83118	2.625	0.09310	N	1	P	0.40731	0.728	P	0.45794	0.493	T	0.37641	-0.9697	10	0.37606	T	0.19	.	5.877	0.18834	0.0:0.4119:0.268:0.3201	.	161	A6NHG9	O5H14_HUMAN	E	161	ENSP00000401706:G161E	ENSP00000401706:G161E	G	+	2	0	OR5H14	99351401	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.034000	0.01424	-0.640000	0.05495	-1.112000	0.02068	GGA		0.348	OR5H14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359112.1			49	119	0	0	0	1	0	49	119					A	97868711	G	A	97868711	3	1	435	1	0	0	0	0	1	0	0	0	11160	1174	41	3	484	3	OR5H14	3	97868711	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	190725	97868711	100153719	1947	22872											
OR5H15	403274	broad.mit.edu	37	chr3	97887994	97887994	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tattaatcttgtcatatataGctggtattcttcatgcttta	10	20	5	6	0	4	0	2	0	2	0	4	0	4	0	0	1	2	3	0	1	7	11			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:97887994G>A	ENST00000356526.2	+	1	451	c.451G>A	c.(451-453)Gct>Act	p.A151T		NM_001005515.1	NP_001005515.1	A6NDH6	O5H15_HUMAN	olfactory receptor, family 5, subfamily H, member 15	151						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(2)|stomach(1)	35						GTCATATATAGCTGGTATTCT	0.368																																						ENST00000356526.2																			0				NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(2)|stomach(1)	35						c.(451-453)Gct>Act		olfactory receptor, family 5, subfamily H, member 15							79	77	78					3																	97887994		2203	4298	6501	SO:0001583	missense	403274				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr3:97887994G>A		CCDS33799.1	3q11.2	2013-09-23			ENSG00000233412	ENSG00000233412		"GPCR / Class A : Olfactory receptors"	31287	protein-coding gene	gene with protein product							Standard	NM_001005515		Approved		uc011bgu.2	A6NDH6	OTTHUMG00000160076	ENST00000356526.2:c.451G>A	3.37:g.97887994G>A	ENSP00000373195:p.Ala151Thr						p.A151T	NM_001005515.1	NP_001005515.1	A6NDH6	O5H15_HUMAN			1	451	+			151						Missense_Mutation	SNP	ENST00000356526.2	37	c.451G>A	CCDS33799.1	.	.	.	.	.	.	.	.	.	.	-	7.362	0.625067	0.14257	.	.	ENSG00000233412	ENST00000356526;ENST00000454529	T	0.37411	1.2	2.48	0.574	0.17368	GPCR, rhodopsin-like superfamily (1);	0.461413	0.18415	N	0.141947	T	0.14700	0.0355	N	0.04805	-0.155	0.09310	N	1	B	0.12013	0.005	B	0.12837	0.008	T	0.20075	-1.0286	10	0.26408	T	0.33	.	6.2056	0.20600	0.2954:0.0:0.7046:0.0	.	151	A6NDH6	O5H15_HUMAN	T	151	ENSP00000373195:A151T	ENSP00000373195:A151T	A	+	1	0	OR5H15	99370684	0.000000	0.05858	0.008000	0.14137	0.003000	0.03518	-1.940000	0.01543	0.370000	0.24538	0.184000	0.17185	GCT		0.368	OR5H15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359109.1			36	97	0	0	0	1	0	36	97					A	97887994	G	A	97887994	3	1	435	1	0	0	0	0	1	0	0	0	11161	971	34	3	453	3	OR5H15	3	97887994	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	19283	97887994	100134436	1948	22873											
OR5K2	402135	broad.mit.edu	37	chr3	98216966	98216966	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcattcagatgaccacaggcGccttcatagctggaaatctg	11	9	10	11	1	3	2	2	1	1	1	3	3	3	3	2	2	1	2	2	2	2	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:98216966G>A	ENST00000427338.1	+	1	519	c.442G>A	c.(442-444)Gcc>Acc	p.A148T	CLDND1_ENST00000502288.1_3'UTR	NM_001004737.1	NP_001004737.1	Q8NHB8	OR5K2_HUMAN	olfactory receptor, family 5, subfamily K, member 2	148						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|large_intestine(1)|lung(10)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						GACCACAGGCGCCTTCATAGC	0.458																																						ENST00000427338.1																			0				endometrium(2)|large_intestine(1)|lung(10)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						c.(442-444)Gcc>Acc		olfactory receptor, family 5, subfamily K, member 2							153	154	153					3																	98216966		2203	4300	6503	SO:0001583	missense	402135				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr3:98216966G>A	AC021660	CCDS33804.1	3q11.2	2013-09-23			ENSG00000231861	ENSG00000231861		"GPCR / Class A : Olfactory receptors"	14774	protein-coding gene	gene with protein product							Standard	NM_001004737		Approved		uc011bgx.2	Q8NHB8	OTTHUMG00000160049	ENST00000427338.1:c.442G>A	3.37:g.98216966G>A	ENSP00000393889:p.Ala148Thr					CLDND1_ENST00000502288.1_3'UTR	p.A148T	NM_001004737.1	NP_001004737.1	Q8NHB8	OR5K2_HUMAN			1	519	+			148					B2RN70|Q6IF47	Missense_Mutation	SNP	ENST00000427338.1	37	c.442G>A	CCDS33804.1	.	.	.	.	.	.	.	.	.	.	G	7.068	0.567707	0.13560	.	.	ENSG00000231861	ENST00000427338	T	0.37584	1.19	2.87	1.04	0.20106	GPCR, rhodopsin-like superfamily (1);	0.173908	0.27591	N	0.018683	T	0.20129	0.0484	N	0.25890	0.77	0.20196	N	0.999922	B	0.32188	0.359	B	0.30716	0.119	T	0.13124	-1.0521	10	0.27082	T	0.32	-5.6455	6.8118	0.23809	0.2516:0.0:0.7484:0.0	.	148	Q8NHB8	OR5K2_HUMAN	T	148	ENSP00000393889:A148T	ENSP00000393889:A148T	A	+	1	0	OR5K2	99699656	0.004000	0.15560	0.227000	0.23927	0.611000	0.37282	-0.232000	0.09055	0.268000	0.21939	0.298000	0.19748	GCC		0.458	OR5K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359020.2			8	81	0	0	0	1	0	8	81					A	98216966	G	A	98216966	3	1	435	1	0	0	0	0	1	0	0	0	11167	1087	38	1	444	1	OR5K2	3	98216966	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	328972	98216966	99805464	1949	22874											
GPR15	2838	broad.mit.edu	37	chr3	98251277	98251277	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgagtgttgaccgctacctgGccattgtgtggccagtcgta	6	12	13	10	2	0	2	0	2	0	0	1	2	0	2	4	2	1	3	4	2	2	4	rs201385578		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:98251277G>A	ENST00000284311.3	+	1	535	c.400G>A	c.(400-402)Gcc>Acc	p.A134T		NM_005290.1	NP_005281.1	P49685	GPR15_HUMAN	G protein-coupled receptor 15	134					G-protein coupled receptor signaling pathway (GO:0007186)|T cell migration (GO:0072678)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)			endometrium(1)|kidney(3)|large_intestine(1)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Lung NSC(201;7.93e-06)|all_neural(597;0.00172)|Hepatocellular(537;0.00825)|Myeloproliferative disorder(1037;0.0255)		Lung(72;0.246)		CCGCTACCTGGCCATTGTGTG	0.537													G|||	1	0.000199681	0	0	5008	,	,		20505	0		0.001	False		,,,				2504	0					ENST00000284311.3																			0				endometrium(1)|kidney(3)|large_intestine(1)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(400-402)Gcc>Acc		G protein-coupled receptor 15							69	60	63					3																	98251277		2203	4300	6503	SO:0001583	missense	2838					integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	g.chr3:98251277G>A		CCDS2931.1	3q11.2-q13.1	2014-01-30			ENSG00000154165	ENSG00000154165		"GPCR / Class A : Orphans"	4469	protein-coding gene	gene with protein product		601166				8838812	Standard	NM_005290		Approved		uc011bgy.3	P49685	OTTHUMG00000160017	ENST00000284311.3:c.400G>A	3.37:g.98251277G>A	ENSP00000284311:p.Ala134Thr						p.A134T	NM_005290.1	NP_005281.1	P49685	GPR15_HUMAN		Lung(72;0.246)	1	535	+		Lung NSC(201;7.93e-06)|all_neural(597;0.00172)|Hepatocellular(537;0.00825)|Myeloproliferative disorder(1037;0.0255)	134					Q3MIL4|Q6ISN6	Missense_Mutation	SNP	ENST00000284311.3	37	c.400G>A	CCDS2931.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	23.0	4.357401	0.82243	.	.	ENSG00000154165	ENST00000284311	T	0.53423	0.62	4.83	3.94	0.45596	GPCR, rhodopsin-like superfamily (1);	0.000000	0.51477	D	0.000100	T	0.73118	0.3546	M	0.91612	3.225	0.45046	D	0.998063	D	0.89917	1.0	D	0.85130	0.997	T	0.79533	-0.1764	10	0.87932	D	0	-19.2841	12.3767	0.55283	0.0:0.0:0.83:0.17	.	134	P49685	GPR15_HUMAN	T	134	ENSP00000284311:A134T	ENSP00000284311:A134T	A	+	1	0	GPR15	99733967	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	9.657000	0.98554	1.368000	0.46115	0.591000	0.81541	GCC		0.537	GPR15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358907.1			16	40	0	0	0	1	0	16	40					A	98251277	G	A	98251277	3	1	435	1	0	0	0	0	1	0	0	0	6655	1203	42	3	402	3	GPR15	3	98251277	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	34311	98251277	99771153	1950	22875											
COL8A1	1295	broad.mit.edu	37	chr3	99513079	99513079	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ttctcttcccagtagaaataCcattagccagtttacgaggg	11	12	8	10	1	1	1	0	0	1	1	3	2	2	1	3	1	3	2	3	1	5	7			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:99513079C>T	ENST00000261037.3	+	5	714	c.334C>T	c.(334-336)Cca>Tca	p.P112S	COL8A1_ENST00000273342.4_Missense_Mutation_p.P112S	NM_001850.4	NP_001841.2	P27658	CO8A1_HUMAN	collagen, type VIII, alpha 1	112	Nonhelical region (NC2).				angiogenesis (GO:0001525)|camera-type eye morphogenesis (GO:0048593)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|epithelial cell proliferation (GO:0050673)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	collagen type VIII trimer (GO:0005591)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(15)|skin(5)|upper_aerodigestive_tract(1)	27						AGTAGAAATACCATTAGCCAG	0.512																																						ENST00000261037.3																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(15)|skin(5)|upper_aerodigestive_tract(1)	27						c.(334-336)Cca>Tca		collagen, type VIII, alpha 1							51	54	53					3																	99513079		2203	4300	6503	SO:0001583	missense	1295				angiogenesis|cell adhesion	basement membrane|collagen type VIII		g.chr3:99513079C>T	AF170702	CCDS2934.1	3q11.1-q13.2	2013-01-16			ENSG00000144810	ENSG00000144810		"Collagens"	2215	protein-coding gene	gene with protein product		120251	"chromosome 3 open reading frame 7"	C3orf7		2029894	Standard	NM_001850		Approved	MGC9568	uc003dth.2	P27658	OTTHUMG00000148669	ENST00000261037.3:c.334C>T	3.37:g.99513079C>T	ENSP00000261037:p.Pro112Ser					COL8A1_ENST00000273342.4_Missense_Mutation_p.P112S	p.P112S	NM_001850.4	NP_001841.2	P27658	CO8A1_HUMAN			5	714	+			112			Nonhelical region (NC2).		D3DN42|Q53XI6|Q96D07	Missense_Mutation	SNP	ENST00000261037.3	37	c.334C>T	CCDS2934.1	.	.	.	.	.	.	.	.	.	.	C	16.71	3.198992	0.58126	.	.	ENSG00000144810	ENST00000261037;ENST00000452013;ENST00000273342	D;D	0.90955	-2.76;-2.76	5.48	5.48	0.80851	.	0.445092	0.22602	N	0.057941	D	0.88644	0.6492	L	0.31420	0.93	0.47862	D	0.999538	D;D	0.54207	0.965;0.965	P;P	0.51016	0.656;0.656	D	0.85614	0.1260	10	0.16420	T	0.52	.	16.849	0.85988	0.0:1.0:0.0:0.0	.	113;112	E7EPK9;P27658	.;CO8A1_HUMAN	S	112	ENSP00000261037:P112S;ENSP00000273342:P112S	ENSP00000261037:P112S	P	+	1	0	COL8A1	100995769	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.089000	0.57685	2.583000	0.87209	0.655000	0.94253	CCA		0.512	COL8A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309001.1	NM_001850		3	7	0	0	0	1	0	3	7					T	99513079	C	T	99513079	3	4	435	1	0	0	0	0	1	0	0	0	3705	507	18	3	340	3	COL8A1	3	99513079	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	1261802	99513079	98509351	1951	22876											
FILIP1L	11259	broad.mit.edu	37	chr3	99649852	99649852	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgagccctcggtatcactgcCtctggaacgcattctttaaa	9	12	8	12	2	3	1	1	1	2	0	4	2	3	2	2	2	3	2	2	2	4	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:99649852C>A	ENST00000354552.3	-	2	483	c.13G>T	c.(13-15)Ggc>Tgc	p.G5C	FILIP1L_ENST00000398326.2_Missense_Mutation_p.G5C|FILIP1L_ENST00000331335.5_Missense_Mutation_p.G5C|CMSS1_ENST00000496116.1_Intron|CMSS1_ENST00000421999.2_Intron	NM_182909.2	NP_878913.2	Q4L180	FIL1L_HUMAN	filamin A interacting protein 1-like	5						cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	35						GTATCACTGCCTCTGGAACGC	0.403																																						ENST00000331335.5																			0				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	35						c.(13-15)Ggc>Tgc		filamin A interacting protein 1-like							126	111	116					3																	99649852		1862	4110	5972	SO:0001583	missense	11259					cytoplasm|membrane|myosin complex|nucleus		g.chr3:99649852C>A		CCDS43117.1, CCDS43118.1, CCDS43119.1, CCDS63700.1, CCDS74969.1	3q12.1	2011-10-21			ENSG00000168386	ENSG00000168386			24589	protein-coding gene	gene with protein product	"downregulated in ovarian cancer 1", "GPBP-interacting protein of 130 kDa"	612993				8314147, 15935955, 21832087	Standard	NM_001282793		Approved	DOC-1, GIP130	uc003dtm.3	Q4L180	OTTHUMG00000159055	ENST00000354552.3:c.13G>T	3.37:g.99649852C>A	ENSP00000346560:p.Gly5Cys					FILIP1L_ENST00000354552.3_Missense_Mutation_p.G5C|CMSS1_ENST00000421999.2_Intron|FILIP1L_ENST00000398326.2_Missense_Mutation_p.G5C|CMSS1_ENST00000496116.1_Intron	p.G5C	NM_001042459.1	NP_001035924.1	Q4L180	FIL1L_HUMAN			2	483	-			5					B2CNV7|B2CNV8|Q13597|Q2YDY5|Q6KFX5|Q6KFX6|Q6KFX7|Q8IUM3|Q8N6Z0	Missense_Mutation	SNP	ENST00000354552.3	37	c.13G>T	CCDS43117.1	.	.	.	.	.	.	.	.	.	.	C	10.89	1.479616	0.26511	.	.	ENSG00000168386	ENST00000354552;ENST00000331335;ENST00000398326	T;T;T	0.17854	2.25;2.25;2.74	5.81	3.41	0.39046	.	0.774610	0.11062	N	0.603811	T	0.09423	0.0232	N	0.08118	0	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.10086	-1.0645	10	0.72032	D	0.01	-0.6397	7.3032	0.26432	0.129:0.0711:0.0:0.7999	.	5;5	Q4L180-2;Q4L180	.;FIL1L_HUMAN	C	5	ENSP00000346560:G5C;ENSP00000327880:G5C;ENSP00000381371:G5C	ENSP00000327880:G5C	G	-	1	0	FILIP1L	101132542	1.000000	0.71417	0.995000	0.50966	0.536000	0.34869	3.362000	0.52314	0.441000	0.26529	-0.469000	0.05056	GGC		0.403	FILIP1L-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000353069.1	NM_014890		20	42	1	0	1.90627e-21	1	2.11755e-21	20	42					A	99649852	C	A	99649852	3	1	435	1	0	0	0	0	1	0	0	0	5895	681	24	5	3435	5	FILIP1L	3	99649852	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	136773	99649852	98372578	1952	22877											
TBC1D23	55773	broad.mit.edu	37	chr3	100002532	100002532	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	taccttttattgtaaatcacGtaacattaaatatagcacat	16	15	3	7	1	1	0	1	0	0	0	1	0	1	0	1	0	3	3	1	0	9	9			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:100002532G>A	ENST00000394144.4	+	4	360	c.353G>A	c.(352-354)cGt>cAt	p.R118H	TBC1D23_ENST00000344949.5_Missense_Mutation_p.R118H|TBC1D23_ENST00000486274.1_3'UTR|TBC1D23_ENST00000475134.1_Intron	NM_001199198.2	NP_001186127.1	Q9NUY8	TBC23_HUMAN	TBC1 domain family, member 23	118	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.				positive regulation of interleukin-6 production (GO:0032755)|regulation of inflammatory response (GO:0050727)|regulation of tumor necrosis factor production (GO:0032680)		Rab GTPase activator activity (GO:0005097)			breast(1)|endometrium(1)|large_intestine(7)|liver(1)|lung(10)|ovary(1)|prostate(2)|skin(2)	25						TGTAAATCACGTAACATTAAA	0.368																																						ENST00000394144.4																			0				breast(1)|endometrium(1)|large_intestine(7)|liver(1)|lung(10)|ovary(1)|prostate(2)|skin(2)	25						c.(352-354)cGt>cAt		TBC1 domain family, member 23							110	104	106					3																	100002532		2203	4300	6503	SO:0001583	missense	55773					intracellular	Rab GTPase activator activity	g.chr3:100002532G>A	AK001908	CCDS2936.1, CCDS56265.1	3q12.2	2013-07-10			ENSG00000036054	ENSG00000036054			25622	protein-coding gene	gene with protein product						22312129	Standard	NM_001199198		Approved	FLJ11046	uc003dtt.4	Q9NUY8	OTTHUMG00000159067	ENST00000394144.4:c.353G>A	3.37:g.100002532G>A	ENSP00000377700:p.Arg118His					TBC1D23_ENST00000486274.1_3'UTR|TBC1D23_ENST00000475134.1_Intron|TBC1D23_ENST00000344949.5_Missense_Mutation_p.R118H	p.R118H	NM_001199198.2	NP_001186127.1	Q9NUY8	TBC23_HUMAN			4	360	+			118			Rab-GAP TBC.		B9A6M5|Q8TCN8|Q8WUB7|Q96D90|Q9NV75	Missense_Mutation	SNP	ENST00000394144.4	37	c.353G>A	CCDS56265.1	.	.	.	.	.	.	.	.	.	.	G	36	5.743653	0.96873	.	.	ENSG00000036054	ENST00000485687;ENST00000344949;ENST00000394144;ENST00000471098	T;T;T;T	0.03860	3.78;3.78;3.78;3.78	5.96	5.96	0.96718	Rab-GAP/TBC domain (3);	0.000000	0.85682	D	0.000000	T	0.18759	0.0450	M	0.67397	2.05	0.80722	D	1	D;D	0.76494	0.999;0.997	P;P	0.59643	0.861;0.781	T	0.00019	-1.2361	9	.	.	.	.	20.4057	0.99008	0.0:0.0:1.0:0.0	.	118;118	Q9NUY8;Q9NUY8-2	TBC23_HUMAN;.	H	126;118;118;104	ENSP00000417487:R126H;ENSP00000340693:R118H;ENSP00000377700:R118H;ENSP00000418714:R104H	.	R	+	2	0	TBC1D23	101485222	1.000000	0.71417	0.996000	0.52242	0.998000	0.95712	9.166000	0.94766	2.829000	0.97493	0.591000	0.81541	CGT		0.368	TBC1D23-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000353150.1	NM_018309		20	31	0	0	0	1	0	20	31					A	100002532	G	A	100002532	3	1	435	1	0	0	0	0	1	0	0	0	15610	1145	40	1	367	1	TBC1D23	3	100002532	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	352680	100002532	98019898	1953	22878											
LNP1	348801	broad.mit.edu	37	chr3	100170610	100170610	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tctgactgccatcctagaagGcattctcatgaggaccaaga	12	9	9	11	0	2	4	1	2	2	2	4	5	3	5	3	2	1	1	3	2	3	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:100170610G>A	ENST00000383693.3	+	3	1484	c.204G>A	c.(202-204)agG>agA	p.R68R	LNP1_ENST00000489752.1_Silent_p.R81R	NM_001085451.1	NP_001078920.1	A1A4G5	LNP1_HUMAN	leukemia NUP98 fusion partner 1	68										cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)	6						ATCCTAGAAGGCATTCTCATG	0.428																																						ENST00000383693.3																			0				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)	6						c.(202-204)agG>agA		leukemia NUP98 fusion partner 1							95	86	89					3																	100170610		1874	4103	5977	SO:0001819	synonymous_variant	348801							g.chr3:100170610G>A		CCDS43120.1	3q12.2	2014-05-12			ENSG00000206535	ENSG00000206535			28014	protein-coding gene	gene with protein product						16467868	Standard	NM_001085451		Approved	NP3	uc003dtx.4	A1A4G5	OTTHUMG00000159082	ENST00000383693.3:c.204G>A	3.37:g.100170610G>A						LNP1_ENST00000489752.1_Silent_p.R81R	p.R68R	NM_001085451.1	NP_001078920.1	A1A4G5	LNP1_HUMAN			3	1484	+			68					B7ZLT3	Silent	SNP	ENST00000383693.3	37	c.204G>A	CCDS43120.1																																																																																				0.428	LNP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353232.1			4	35	0	0	0	1	0	4	35					A	100170610	G	A	100170610	2	1	435	1	0	0	0	0	0	0	0	1	8863	1194	42	3		3	LNP1	3	100170610	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	168078	100170610	97851820	1954	22879											
ABI3BP	25890	broad.mit.edu	37	chr3	100471765	100471765	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagagtctgaattaaagggtCtttcagtccagatggcatct	12	12	10	7	0	4	3	1	1	3	2	5	3	5	3	1	2	0	1	1	2	4	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:100471765C>A	ENST00000284322.5	-	33	2964	c.2855G>T	c.(2854-2856)aGa>aTa	p.R952I	ABI3BP_ENST00000383691.4_Missense_Mutation_p.R906I|ABI3BP_ENST00000471714.1_Missense_Mutation_p.R1654I	NM_015429.3	NP_056244.2	Q7Z7G0	TARSH_HUMAN	ABI family, member 3 (NESH) binding protein	952					extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	extracellular space (GO:0005615)|interstitial matrix (GO:0005614)	heparin binding (GO:0008201)			central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	50						ATTAAAGGGTCTTTCAGTCCA	0.378																																						ENST00000471714.1																			0				central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	50						c.(4960-4962)aGa>aTa		ABI family, member 3 (NESH) binding protein							84	77	79					3																	100471765		1852	4100	5952	SO:0001583	missense	25890					extracellular space		g.chr3:100471765C>A	AB056106	CCDS46880.1	3q12.2	2013-02-11	2008-09-12		ENSG00000154175	ENSG00000154175		"Fibronectin type III domain containing"	17265	protein-coding gene	gene with protein product	"target of Nesh-SH3"	606279				11501947	Standard	NM_015429		Approved	NESHBP, DKFZP586L2024, TARSH	uc003dun.3	Q7Z7G0	OTTHUMG00000159094	ENST00000284322.5:c.2855G>T	3.37:g.100471765C>A	ENSP00000284322:p.Arg952Ile					ABI3BP_ENST00000284322.5_Missense_Mutation_p.R952I|ABI3BP_ENST00000383691.4_Missense_Mutation_p.R906I	p.R1654I			Q7Z7G0	TARSH_HUMAN			65	5070	-			952					B3KSL4|Q6ZW20|Q6ZW22|Q9C082|Q9UFI6	Missense_Mutation	SNP	ENST00000284322.5	37	c.4961G>T	CCDS46880.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.15|13.15	2.150992|2.150992	0.38021|0.38021	.|.	.|.	ENSG00000154175|ENSG00000154175	ENST00000495591|ENST00000471714;ENST00000284322;ENST00000383692;ENST00000429331;ENST00000383691	.|T;T;T	.|0.52983	.|0.64;0.64;0.64	6.02|6.02	5.08|5.08	0.68730|0.68730	.|.	.|0.098407	.|0.64402	.|D	.|0.000001	T|T	0.24812|0.24812	0.0602|0.0602	N|N	0.03115|0.03115	-0.41|-0.41	0.53005|0.53005	D|D	0.999969|0.999969	.|B;B;B;B	.|0.23540	.|0.084;0.007;0.039;0.087	.|B;B;B;B	.|0.28011	.|0.026;0.004;0.043;0.085	T|T	0.13361|0.13361	-1.0512|-1.0512	5|10	.|0.18710	.|T	.|0.47	-23.0471|-23.0471	11.8173|11.8173	0.52218|0.52218	0.3719:0.6281:0.0:0.0|0.3719:0.6281:0.0:0.0	.|.	.|906;952;1654;661	.|B4DSV9;Q7Z7G0;D3YTG3;D3YTD6	.|.;TARSH_HUMAN;.;.	Y|I	1008|1654;952;661;363;906	.|ENSP00000420524:R1654I;ENSP00000284322:R952I;ENSP00000373189:R906I	.|ENSP00000284322:R952I	D|R	-|-	1|2	0|0	ABI3BP|ABI3BP	101954455|101954455	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.981000|0.981000	0.71138|0.71138	6.774000|6.774000	0.75012|0.75012	2.850000|2.850000	0.98022|0.98022	0.650000|0.650000	0.86243|0.86243	GAC|AGA		0.378	ABI3BP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000353260.1			11	38	1	0	5.16669e-11	1	5.54509e-11	11	38					A	100471765	C	A	100471765	3	1	435	1	0	0	0	0	1	0	0	0	91	913	32	5	384	5	ABI3BP	3	100471765	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	301155	100471765	97550665	1955	22880											
SENP7	57337	broad.mit.edu	37	chr3	101085438	101085438	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cagtggttgaaccggcagagGcacttttggtggcattactc	8	11	13	9	1	0	2	0	1	0	1	1	2	0	2	1	5	2	4	1	5	2	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:101085438G>T	ENST00000394095.2	-	9	1207	c.1154C>A	c.(1153-1155)gCc>gAc	p.A385D	SENP7_ENST00000394094.2_Missense_Mutation_p.A320D|SENP7_ENST00000394091.1_Missense_Mutation_p.A221D|SENP7_ENST00000358203.3_Missense_Mutation_p.A221D|SENP7_ENST00000348610.3_Missense_Mutation_p.A352D|SENP7_ENST00000314261.7_Missense_Mutation_p.A319D	NM_001282802.1|NM_020654.3	NP_001269731.1|NP_065705.3	Q9BQF6	SENP7_HUMAN	SUMO1/sentrin specific peptidase 7	385						intracellular (GO:0005622)|nucleus (GO:0005634)	cysteine-type peptidase activity (GO:0008234)			breast(2)|endometrium(1)|kidney(1)|large_intestine(16)|lung(15)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						ACCGGCAGAGGCACTTTTGGT	0.403																																						ENST00000394095.2																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(16)|lung(15)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						c.(1153-1155)gCc>gAc		SUMO1/sentrin specific peptidase 7							111	108	109					3																	101085438		2203	4300	6503	SO:0001583	missense	57337				proteolysis	nucleus	cysteine-type peptidase activity	g.chr3:101085438G>T		CCDS2941.2, CCDS43121.1, CCDS63704.1, CCDS63705.1, CCDS63706.1	3q12	2008-02-05	2005-08-17		ENSG00000138468	ENSG00000138468			30402	protein-coding gene	gene with protein product		612846	"SUMO1/sentrin specific protease 7"			11214970, 11230166	Standard	NM_001282802		Approved		uc003dut.3	Q9BQF6	OTTHUMG00000149927	ENST00000394095.2:c.1154C>A	3.37:g.101085438G>T	ENSP00000377655:p.Ala385Asp					SENP7_ENST00000314261.7_Missense_Mutation_p.A319D|SENP7_ENST00000394091.1_Missense_Mutation_p.A221D|SENP7_ENST00000348610.3_Missense_Mutation_p.A352D|SENP7_ENST00000394094.2_Missense_Mutation_p.A320D|SENP7_ENST00000358203.3_Missense_Mutation_p.A221D	p.A385D	NM_020654.3	NP_065705.3	Q9BQF6	SENP7_HUMAN			9	1207	-			385					A1L3A5|A8MW39|B7WNW8|Q7Z3F4|Q96PS5|Q9C0F6|Q9HBT5	Missense_Mutation	SNP	ENST00000394095.2	37	c.1154C>A	CCDS2941.2	.	.	.	.	.	.	.	.	.	.	G	10.86	1.469135	0.26423	.	.	ENSG00000138468	ENST00000394095;ENST00000394094;ENST00000314261;ENST00000394091;ENST00000358203;ENST00000348610	T;T;T;T;T;T	0.18960	2.18;2.19;2.19;2.19;2.19;2.18	5.77	3.88	0.44766	.	1.117470	0.06717	N	0.774252	T	0.15696	0.0378	L	0.36672	1.1	0.09310	N	1	P;B;B;B	0.37276	0.589;0.302;0.355;0.201	B;B;B;B	0.33521	0.086;0.165;0.115;0.08	T	0.15235	-1.0444	10	0.17832	T	0.49	1.1066	7.0345	0.24985	0.0865:0.0:0.7435:0.17	.	221;319;352;385	Q9BQF6-4;Q9BQF6-5;Q9BQF6-2;Q9BQF6	.;.;.;SENP7_HUMAN	D	385;320;319;221;221;352	ENSP00000377655:A385D;ENSP00000377654:A320D;ENSP00000313624:A319D;ENSP00000377651:A221D;ENSP00000350936:A221D;ENSP00000342159:A352D	ENSP00000313624:A319D	A	-	2	0	SENP7	102568128	0.706000	0.27856	0.006000	0.13384	0.756000	0.42949	0.999000	0.29757	1.581000	0.49865	0.655000	0.94253	GCC		0.403	SENP7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313957.2	NM_020654		28	44	1	0	9.39395e-14	1	1.02212e-13	28	44					T	101085438	G	T	101085438	3	4	435	1	0	0	0	0	1	0	0	0	14051	1203	42	5	2062	5	SENP7	3	101085438	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	613673	101085438	96936992	1956	22881											
CEP97	79598	broad.mit.edu	37	chr3	101474433	101474433	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctagagaagattttgagcaaAcagaggtaagcccatttatt	15	11	9	6	0	0	4	0	1	0	3	0	5	0	4	1	1	3	2	1	1	5	7			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:101474433A>G	ENST00000341893.3	+	7	1640	c.888A>G	c.(886-888)aaA>aaG	p.K296K	CEP97_ENST00000327230.4_Silent_p.K296K|CEP97_ENST00000494050.1_Silent_p.K296K			Q8IW35	CEP97_HUMAN	centrosomal protein 97kDa	296					cell projection organization (GO:0030030)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule organizing center (GO:0005815)|protein complex (GO:0043234)				cervix(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	29						TTTTGAGCAAACAGAGGTAAG	0.433																																						ENST00000341893.3																			0				cervix(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	29						c.(886-888)aaA>aaG		centrosomal protein 97kDa							112	106	108					3																	101474433		2203	4300	6503	SO:0001819	synonymous_variant	79598					centrosome|nucleus	protein binding	g.chr3:101474433A>G	AL833269	CCDS2944.1	3q12.3	2014-02-20	2008-01-08	2008-01-08	ENSG00000182504	ENSG00000182504			26244	protein-coding gene	gene with protein product		615864	"leucine-rich repeats and IQ motif containing 2"	LRRIQ2		17719545, 18068367	Standard	NM_024548		Approved	FLJ23047	uc003dvk.1	Q8IW35	OTTHUMG00000159162	ENST00000341893.3:c.888A>G	3.37:g.101474433A>G						CEP97_ENST00000494050.1_Silent_p.K296K|CEP97_ENST00000327230.4_Silent_p.K296K	p.K296K			Q8IW35	CEP97_HUMAN			7	1640	+			296					B5MDY8|Q8NA71|Q9H5T9	Silent	SNP	ENST00000341893.3	37	c.888A>G	CCDS2944.1																																																																																				0.433	CEP97-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000353597.2	NM_024548		3	70	0	0	0	1	0	3	70					G	101474433	A	G	101474433	2	3	435	1	0	0	0	0	0	0	0	1	3263	40	2	4		4	CEP97	3	101474433	Silent	SNP	A	TCGA-XK-AAIW-01A-11D-A41K-08	388995	101474433	96547997	1957	22882											
FAM55C	91775	broad.mit.edu	37	chr3	101525972	101525973	+	Splice_Site	INS	-	-	A																															ttcccaggagaataaaaggtINSaaaaaaaagaataagcttga																										TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:101525972_101525973insA	ENST00000491511.2	+	6	1878		c.e6+2		NXPE3_ENST00000422132.1_Splice_Site|NXPE3_ENST00000477909.1_Splice_Site|NXPE3_ENST00000273347.5_Splice_Site	NM_001134456.1	NP_001127928.1	Q969Y0	NXPE3_HUMAN	neurexophilin and PC-esterase domain family, member 3							extracellular region (GO:0005576)											GAATAAAAGGTAAAAAAAAGAA	0.351																																						ENST00000422132.1																			0											c.e3+2		neurexophilin and PC-esterase domain family, member 3																																				SO:0001630	splice_region_variant	91775							g.chr3:101525972_101525973insA	AK054664	CCDS2945.1	3q12.3	2012-06-14	2012-06-11	2012-06-11	ENSG00000144815	ENSG00000144815			28238	protein-coding gene	gene with protein product			"family with sequence similarity 55, member C"	FAM55C		12975309	Standard	NM_001134456		Approved	MGC15606	uc003dvn.3	Q969Y0	OTTHUMG00000159179	ENST00000491511.2:c.922+2->A	3.37:g.101525980_101525980dupA						NXPE3_ENST00000491511.1_Splice_Site|NXPE3_ENST00000477909.1_Splice_Site|NXPE3_ENST00000273347.5_Splice_Site								3	1119	+								A8K0X4|D3DN53|Q7Z2S8	Splice_Site	INS	ENST00000491511.2	37		CCDS2945.1																																																																																				0.351	NXPE3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353711.2	NM_145037	Intron	26	25						26	25	---	---	---	---	A	101525973	-	A	101525972	8	5	435	1	0	1	1	0	0	0	1	0	5586	1652	57	0	934	0	FAM55C	3	101525972	Splice_Site	INS	-	TCGA-XK-AAIW-01A-11D-A41K-08	51539	101525972	96496458	1958	22883											
NFKBIZ	64332	broad.mit.edu	37	chr3	101572708	101572708	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaggatgcagatggtgacacGtgagtattcttttatctcat	11	14	10	6	1	2	3	1	2	2	1	3	4	2	4	0	2	1	2	0	2	3	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:101572708G>A	ENST00000326172.5	+	5	1452		c.e5+1		NFKBIZ_ENST00000326151.5_Splice_Site|NFKBIZ_ENST00000394054.2_Splice_Site	NM_031419.3	NP_113607.1	Q9BYH8	IKBZ_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, zeta						inflammatory response (GO:0006954)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24						ATGGTGACACGTGAGTATTCT	0.378																																						ENST00000326172.5																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24						c.e5+1		nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, zeta							44	43	43					3																	101572708		2003	3800	5803	SO:0001630	splice_region_variant	64332				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chr3:101572708G>A	AF548362	CCDS2946.1, CCDS43123.1	3p12-q12	2013-01-10			ENSG00000144802	ENSG00000144802		"Ankyrin repeat domain containing"	29805	protein-coding gene	gene with protein product	"IL-1 inducible nuclear ankyrin-repeat protein"	608004				12565889, 16513645	Standard	NM_031419		Approved	MAIL, FLJ34463, INAP	uc003dvp.3	Q9BYH8	OTTHUMG00000159194	ENST00000326172.5:c.1337+1G>A	3.37:g.101572708G>A						NFKBIZ_ENST00000394054.2_Splice_Site|NFKBIZ_ENST00000326151.5_Splice_Site		NM_031419.3	NP_113607.1	Q9BYH8	IKBZ_HUMAN			5	1452	+								B3KNR2|D3DN54|Q8IUL4|Q8NAZ8	Splice_Site	SNP	ENST00000326172.5	37		CCDS2946.1	.	.	.	.	.	.	.	.	.	.	G	19.70	3.876009	0.72180	.	.	ENSG00000144802	ENST00000483180;ENST00000394054;ENST00000326151;ENST00000326172	.	.	.	5.65	5.65	0.86999	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.0835	0.97793	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	NFKBIZ	103055398	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	8.786000	0.91826	2.822000	0.97130	0.563000	0.77884	.		0.378	NFKBIZ-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000353793.1	NM_031419	Intron	14	23	0	0	0	1	0	14	23					A	101572708	G	A	101572708	5	1	435	1	0	0	0	0	0	0	1	0	10383	1159	40	1	1356	1	NFKBIZ	3	101572708	Splice_Site	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	46736	101572708	96449722	1959	22884											
CBLB	868	broad.mit.edu	37	chr3	105377969	105377969	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttgcaatttttgcatcgaCattttccaatgccgcctcag	8	16	6	11	2	1	0	1	0	0	0	3	1	2	0	3	0	3	2	3	0	2	6			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:105377969C>T	ENST00000264122.4	-	19	3115	c.2794G>A	c.(2794-2796)Gtc>Atc	p.V932I	CBLB_ENST00000394027.3_Missense_Mutation_p.V910I|CBLB_ENST00000407712.1_Missense_Mutation_p.V147I	NM_170662.3	NP_733762.2	Q13191	CBLB_HUMAN	Cbl proto-oncogene B, E3 ubiquitin protein ligase	932	UBA. {ECO:0000255|PROSITE- ProRule:PRU00212}.				cell surface receptor signaling pathway (GO:0007166)|immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|negative regulation of alpha-beta T cell proliferation (GO:0046642)|negative regulation of T cell receptor signaling pathway (GO:0050860)|NLS-bearing protein import into nucleus (GO:0006607)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of T cell anergy (GO:0002669)|signal transduction (GO:0007165)|T cell activation (GO:0042110)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|ligase activity (GO:0016874)|signal transducer activity (GO:0004871)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(2)|urinary_tract(2)	49						TTTGCATCGACATTTTCCAAT	0.517			Mis S		AML																																GBM(93;588 1337 9788 29341 43499)	ENST00000264122.4				Rec	yes		3	3q13.11	868	Mis S	Cas-Br-M (murine) ecotropic retroviral transforming sequence b			L			AML		0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(2)|urinary_tract(2)	49						c.(2794-2796)Gtc>Atc		Cbl proto-oncogene B, E3 ubiquitin protein ligase							110	110	110					3																	105377969		2203	4300	6503	SO:0001583	missense	868				cell surface receptor linked signaling pathway|NLS-bearing substrate import into nucleus	cytoplasm|nucleus	calcium ion binding|ligase activity|signal transducer activity|zinc ion binding	g.chr3:105377969C>T	U26710	CCDS2948.1	3q	2013-07-09	2013-07-09		ENSG00000114423	ENSG00000114423		"RING-type (C3HC4) zinc fingers"	1542	protein-coding gene	gene with protein product		604491	"Cas-Br-M (murine) ectropic retroviral transforming sequence b", "Cas-Br-M (murine) ecotropic retroviral transforming sequence b"			7784085	Standard	XM_005247853		Approved	RNF56, Cbl-b	uc003dwc.3	Q13191	OTTHUMG00000150654	ENST00000264122.4:c.2794G>A	3.37:g.105377969C>T	ENSP00000264122:p.Val932Ile					CBLB_ENST00000407712.1_Missense_Mutation_p.V147I|CBLB_ENST00000394027.3_Missense_Mutation_p.V910I	p.V932I	NM_170662.3	NP_733762.2	Q13191	CBLB_HUMAN			19	3115	-			932			UBA.		A8K9S7|B7WNM4|Q13192|Q13193|Q3LIC0|Q63Z43|Q8IVC5	Missense_Mutation	SNP	ENST00000264122.4	37	c.2794G>A	CCDS2948.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.092613	0.76756	.	.	ENSG00000114423	ENST00000394030;ENST00000264122;ENST00000407712;ENST00000394027	T;T;T;T	0.54479	0.57;0.57;0.57;0.57	5.65	5.65	0.86999	Ubiquitin-associated/translation elongation factor EF1B, N-terminal, eukaryote (2);	0.130360	0.50627	D	0.000106	T	0.56906	0.2017	N	0.08118	0	0.80722	D	1	D;D;D	0.69078	0.966;0.997;0.997	P;D;D	0.79108	0.801;0.992;0.992	T	0.67348	-0.5693	10	0.87932	D	0	-14.3343	19.7289	0.96175	0.0:1.0:0.0:0.0	.	910;932;910	E7ENW2;Q13191;B4DYP3	.;CBLB_HUMAN;.	I	271;932;147;910	ENSP00000377598:V271I;ENSP00000264122:V932I;ENSP00000384170:V147I;ENSP00000377595:V910I	ENSP00000264122:V932I	V	-	1	0	CBLB	106860659	1.000000	0.71417	0.935000	0.37517	0.909000	0.53808	5.023000	0.64084	2.649000	0.89929	0.655000	0.94253	GTC		0.517	CBLB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319417.2	NM_170662		37	48	0	0	0	1	0	37	48					T	105377969	C	T	105377969	3	4	435	1	0	0	0	0	1	0	0	0	2701	478	17	3	158	3	CBLB	3	105377969	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	3805261	105377969	92644461	1960	22885											
CBLB	868	broad.mit.edu	37	chr3	105422838	105422838	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taaaattgatctacctttggTgaacccgttgggctgccaca	10	12	9	10	1	1	2	0	2	1	0	1	2	1	2	3	2	3	2	3	2	4	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:105422838T>C	ENST00000264122.4	-	11	1908	c.1587A>G	c.(1585-1587)tcA>tcG	p.S529S	CBLB_ENST00000394027.3_Silent_p.S551S|CBLB_ENST00000405772.1_Silent_p.S529S|CBLB_ENST00000403724.1_Silent_p.S529S	NM_170662.3	NP_733762.2	Q13191	CBLB_HUMAN	Cbl proto-oncogene B, E3 ubiquitin protein ligase	529	Pro-rich.				cell surface receptor signaling pathway (GO:0007166)|immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|negative regulation of alpha-beta T cell proliferation (GO:0046642)|negative regulation of T cell receptor signaling pathway (GO:0050860)|NLS-bearing protein import into nucleus (GO:0006607)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of T cell anergy (GO:0002669)|signal transduction (GO:0007165)|T cell activation (GO:0042110)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|ligase activity (GO:0016874)|signal transducer activity (GO:0004871)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(2)|urinary_tract(2)	49						CTACCTTTGGTGAACCCGTTG	0.403			Mis S		AML																																GBM(93;588 1337 9788 29341 43499)	ENST00000264122.4				Rec	yes		3	3q13.11	868	Mis S	Cas-Br-M (murine) ecotropic retroviral transforming sequence b			L			AML		0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(2)|urinary_tract(2)	49						c.(1585-1587)tcA>tcG		Cbl proto-oncogene B, E3 ubiquitin protein ligase							82	87	85					3																	105422838		2203	4300	6503	SO:0001819	synonymous_variant	868				cell surface receptor linked signaling pathway|NLS-bearing substrate import into nucleus	cytoplasm|nucleus	calcium ion binding|ligase activity|signal transducer activity|zinc ion binding	g.chr3:105422838T>C	U26710	CCDS2948.1	3q	2013-07-09	2013-07-09		ENSG00000114423	ENSG00000114423		"RING-type (C3HC4) zinc fingers"	1542	protein-coding gene	gene with protein product		604491	"Cas-Br-M (murine) ectropic retroviral transforming sequence b", "Cas-Br-M (murine) ecotropic retroviral transforming sequence b"			7784085	Standard	XM_005247853		Approved	RNF56, Cbl-b	uc003dwc.3	Q13191	OTTHUMG00000150654	ENST00000264122.4:c.1587A>G	3.37:g.105422838T>C						CBLB_ENST00000405772.1_Silent_p.S529S|CBLB_ENST00000403724.1_Silent_p.S529S|CBLB_ENST00000394027.3_Silent_p.S551S	p.S529S	NM_170662.3	NP_733762.2	Q13191	CBLB_HUMAN			11	1908	-			529			Pro-rich.		A8K9S7|B7WNM4|Q13192|Q13193|Q3LIC0|Q63Z43|Q8IVC5	Silent	SNP	ENST00000264122.4	37	c.1587A>G	CCDS2948.1																																																																																				0.403	CBLB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319417.2	NM_170662		5	30	0	0	0	1	0	5	30					C	105422838	T	C	105422838	2	2	435	1	0	0	0	0	0	0	0	1	2701	1683	59	4		4	CBLB	3	105422838	Silent	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	44869	105422838	92599592	1961	22886											
CBLB	868	broad.mit.edu	37	chr3	105438945	105438945	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gactcctcacgatcatcatcGtcgtccaagtctagcatcgg	9	10	8	14	4	4	0	3	0	1	0	9	2	6	0	2	1	1	1	2	1	2	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:105438945G>A	ENST00000264122.4	-	10	1674	c.1353C>T	c.(1351-1353)gaC>gaT	p.D451D	CBLB_ENST00000394027.3_Silent_p.D473D|CBLB_ENST00000545639.1_3'UTR|CBLB_ENST00000405772.1_Silent_p.D451D|CBLB_ENST00000403724.1_Silent_p.D451D	NM_170662.3	NP_733762.2	Q13191	CBLB_HUMAN	Cbl proto-oncogene B, E3 ubiquitin protein ligase	451					cell surface receptor signaling pathway (GO:0007166)|immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|negative regulation of alpha-beta T cell proliferation (GO:0046642)|negative regulation of T cell receptor signaling pathway (GO:0050860)|NLS-bearing protein import into nucleus (GO:0006607)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of T cell anergy (GO:0002669)|signal transduction (GO:0007165)|T cell activation (GO:0042110)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|ligase activity (GO:0016874)|signal transducer activity (GO:0004871)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(2)|urinary_tract(2)	49						GATCATCATCGTCGTCCAAGT	0.478			Mis S		AML																																GBM(93;588 1337 9788 29341 43499)	ENST00000264122.4				Rec	yes		3	3q13.11	868	Mis S	Cas-Br-M (murine) ecotropic retroviral transforming sequence b			L			AML		0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(2)|urinary_tract(2)	49						c.(1351-1353)gaC>gaT		Cbl proto-oncogene B, E3 ubiquitin protein ligase							121	102	108					3																	105438945		2203	4300	6503	SO:0001819	synonymous_variant	868				cell surface receptor linked signaling pathway|NLS-bearing substrate import into nucleus	cytoplasm|nucleus	calcium ion binding|ligase activity|signal transducer activity|zinc ion binding	g.chr3:105438945G>A	U26710	CCDS2948.1	3q	2013-07-09	2013-07-09		ENSG00000114423	ENSG00000114423		"RING-type (C3HC4) zinc fingers"	1542	protein-coding gene	gene with protein product		604491	"Cas-Br-M (murine) ectropic retroviral transforming sequence b", "Cas-Br-M (murine) ecotropic retroviral transforming sequence b"			7784085	Standard	XM_005247853		Approved	RNF56, Cbl-b	uc003dwc.3	Q13191	OTTHUMG00000150654	ENST00000264122.4:c.1353C>T	3.37:g.105438945G>A						CBLB_ENST00000405772.1_Silent_p.D451D|CBLB_ENST00000403724.1_Silent_p.D451D|CBLB_ENST00000545639.1_3'UTR|CBLB_ENST00000394027.3_Silent_p.D473D	p.D451D	NM_170662.3	NP_733762.2	Q13191	CBLB_HUMAN			10	1674	-			451					A8K9S7|B7WNM4|Q13192|Q13193|Q3LIC0|Q63Z43|Q8IVC5	Silent	SNP	ENST00000264122.4	37	c.1353C>T	CCDS2948.1																																																																																				0.478	CBLB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319417.2	NM_170662		20	27	0	0	0	1	0	20	27					A	105438945	G	A	105438945	2	1	435	1	0	0	0	0	0	0	0	1	2701	1136	40	1		1	CBLB	3	105438945	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	16107	105438945	92583485	1962	22887											
CD47	961	broad.mit.edu	37	chr3	107778299	107778299	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtaacaatgaaaactcacCtgtactaaacacatagtagt	17	10	5	9	0	1	1	1	1	0	0	1	1	1	1	1	0	4	3	1	0	9	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:107778299C>A	ENST00000361309.5	-	5	796	c.691G>T	c.(691-693)Gcg>Tcg	p.A231S	CD47_ENST00000355354.7_Splice_Site_p.A231S	NM_001777.3	NP_001768.1	Q08722	CD47_HUMAN	CD47 molecule	231					blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|opsonization (GO:0008228)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of inflammatory response (GO:0050729)|positive regulation of phagocytosis (GO:0050766)|positive regulation of T cell activation (GO:0050870)|response to bacterium (GO:0009617)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	thrombospondin receptor activity (GO:0070053)			endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|urinary_tract(1)	9			OV - Ovarian serous cystadenocarcinoma(3;0.0191)|Epithelial(53;0.118)			GAAAACTCACCTGTACTAAAC	0.299																																						ENST00000355354.7																			0				endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|urinary_tract(1)	9						c.e5+1		CD47 molecule							82	76	78					3																	107778299		1809	4056	5865	SO:0001630	splice_region_variant	961				blood coagulation|cell adhesion|cell junction assembly|integrin-mediated signaling pathway|leukocyte migration|positive regulation of cell proliferation|positive regulation of cell-cell adhesion|positive regulation of T cell activation	integral to plasma membrane	protein binding|thrombospondin receptor activity	g.chr3:107778299C>A		CCDS43125.1, CCDS43126.1	3q13.1-q13.2	2013-01-11	2006-03-28		ENSG00000196776	ENSG00000196776		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	1682	protein-coding gene	gene with protein product	"antigen identified by monoclonal antibody 1D8", "antigenic surface determinant protein OA3", "integrin associated protein", "Rh-related antigen", "leukocyte surface antigen CD47", "CD47 glycoprotein"	601028	"CD47 antigen (Rh-related antigen, integrin-associated signal transducer)"	MER6		8294396, 2277087	Standard	XM_005247908		Approved	IAP, OA3	uc003dwt.1	Q08722	OTTHUMG00000044216	ENST00000361309.5:c.691+1G>T	3.37:g.107778299C>A						CD47_ENST00000361309.5_Splice_Site_p.A231_splice	p.A231_splice	NM_198793.2	NP_942088.1	Q08722	CD47_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;0.0191)|Epithelial(53;0.118)		5	807	-			231					A8K198|D3DN59|Q53Y71|Q96A60	Splice_Site	SNP	ENST00000361309.5	37	c.691_splice	CCDS43126.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	9.793|9.793	1.178452|1.178452	0.21787|0.21787	.|.	.|.	ENSG00000196776|ENSG00000196776	ENST00000355354;ENST00000361309|ENST00000517766	.|.	.|.	.|.	5.83|5.83	2.08|2.08	0.27032|0.27032	CD47 transmembrane (1);|.	0.793468|.	0.11735|.	N|.	0.534601|.	T|T	0.33498|0.33498	0.0865|0.0865	L|L	0.40543|0.40543	1.245|1.245	0.26844|0.26844	N|N	0.96831|0.96831	B;B;B;B|.	0.24426|.	0.084;0.084;0.103;0.103|.	B;B;B;B|.	0.31547|.	0.081;0.081;0.132;0.132|.	T|T	0.25082|0.25082	-1.0142|-1.0142	8|5	.|.	.|.	.|.	.|.	4.8696|4.8696	0.13625|0.13625	0.1472:0.6163:0.0:0.2365|0.1472:0.6163:0.0:0.2365	.|.	231;231;231;231|.	Q08722-2;Q08722-3;E9PB22;Q08722|.	.;.;.;CD47_HUMAN|.	S|H	231|27	.|.	.|.	A|Q	-|-	1|3	0|2	CD47|CD47	109260989|109260989	1.000000|1.000000	0.71417|0.71417	0.265000|0.265000	0.24526|0.24526	0.429000|0.429000	0.31625|0.31625	0.889000|0.889000	0.28282|0.28282	0.104000|0.104000	0.17725|0.17725	-0.150000|-0.150000	0.13652|0.13652	GCG|CAG		0.299	CD47-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000102793.1	NM_001777	Missense_Mutation	23	35	1	0	2.21704e-12	1	2.3975e-12	23	35					A	107778299	C	A	107778299	5	1	435	1	0	0	0	0	0	0	1	0	3019	695	24	5	312	5	CD47	3	107778299	Splice_Site	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	2339354	107778299	90244131	1963	22888											
HHLA2	11148	broad.mit.edu	37	chr3	108072521	108072521	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagattcaaaatgggaatgcGtcgctatttttcagaagagt	13	12	11	5	2	2	3	2	0	0	3	3	5	2	4	0	1	1	1	0	1	5	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:108072521G>A	ENST00000357759.5	+	4	726	c.312G>A	c.(310-312)gcG>gcA	p.A104A	HHLA2_ENST00000467761.1_Silent_p.A104A|HHLA2_ENST00000489514.2_Silent_p.A104A|HHLA2_ENST00000491820.1_Silent_p.A104A|HHLA2_ENST00000467562.1_Intron	NM_007072.2	NP_009003.1	Q9UM44	HHLA2_HUMAN	HERV-H LTR-associating 2	104	Ig-like V-type 1.				positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of cytokine production (GO:0001819)|T cell costimulation (GO:0031295)	integral component of membrane (GO:0016021)				endometrium(2)|large_intestine(1)|lung(14)|ovary(1)	18						ATGGGAATGCGTCGCTATTTT	0.403																																						ENST00000357759.5																			0				endometrium(2)|large_intestine(1)|lung(14)|ovary(1)	18						c.(310-312)gcG>gcA		HERV-H LTR-associating 2							95	89	91					3																	108072521		1880	4113	5993	SO:0001819	synonymous_variant	11148					integral to membrane		g.chr3:108072521G>A	AF126162	CCDS46883.1, CCDS63713.1, CCDS74975.1	3q13.13	2013-01-11			ENSG00000114455	ENSG00000114455		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C1-set domain containing"	4905	protein-coding gene	gene with protein product		604371				10444326	Standard	NM_007072		Approved	B7H7	uc003dwz.3	Q9UM44	OTTHUMG00000159224	ENST00000357759.5:c.312G>A	3.37:g.108072521G>A						HHLA2_ENST00000467562.1_Intron|HHLA2_ENST00000489514.2_Silent_p.A104A|HHLA2_ENST00000467761.1_Silent_p.A104A|HHLA2_ENST00000491820.1_Silent_p.A104A	p.A104A	NM_007072.2	NP_009003.1	Q9UM44	HHLA2_HUMAN			4	726	+			104			Ig-like V-type 1.		B4DKN2|D3DN60|Q9NWQ6	Silent	SNP	ENST00000357759.5	37	c.312G>A	CCDS46883.1	.	.	.	.	.	.	.	.	.	.	G	1.479	-0.557791	0.03967	.	.	ENSG00000114455	ENST00000482099	.	.	.	5.45	-1.1	0.09872	.	.	.	.	.	T	0.40015	0.1100	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.24225	-1.0166	4	.	.	.	-12.7028	1.5258	0.02525	0.1318:0.3833:0.1329:0.352	.	.	.	.	I	7	.	.	V	+	1	0	HHLA2	109555211	0.962000	0.33011	0.908000	0.35775	0.025000	0.11179	-0.119000	0.10676	-0.265000	0.09352	-2.052000	0.00405	GTC		0.403	HHLA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353924.1	NM_007072		12	24	0	0	0	1	0	12	24					A	108072521	G	A	108072521	2	1	435	1	0	0	0	0	0	0	0	1	7095	1132	40	1		1	HHLA2	3	108072521	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	294222	108072521	89949909	1964	22889											
MYH15	22989	broad.mit.edu	37	chr3	108117552	108117552	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttctgacagcctgcggccacGctctgtctgctcttgcaggg	4	11	12	14	2	4	1	0	1	4	0	4	1	4	1	2	2	4	3	2	2	0	2	rs377115294		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:108117552G>A	ENST00000273353.3	-	36	5181	c.5125C>T	c.(5125-5127)Cgt>Tgt	p.R1709C		NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN	myosin, heavy chain 15	1709						cytoplasm (GO:0005737)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						CTGCGGCCACGCTCTGTCTGC	0.527																																						ENST00000273353.3																			0				NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						c.(5125-5127)Cgt>Tgt		myosin, heavy chain 15		G	CYS/ARG	0,3952		0,0,1976	186	188	187		5125	-6.9	0	3		187	1,8327		0,1,4163	no	missense	MYH15	NM_014981.1	180	0,1,6139	AA,AG,GG		0.012,0.0,0.0081	benign	1709/1947	108117552	1,12279	1976	4164	6140	SO:0001583	missense	22989					myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity	g.chr3:108117552G>A	AB023217	CCDS43127.1	3q13	2011-09-27	2006-09-29		ENSG00000144821	ENSG00000144821		"Myosins / Myosin superfamily : Class II"	31073	protein-coding gene	gene with protein product		609929	"myosin, heavy polypeptide 15"			15014174, 15042088	Standard	NM_014981		Approved	KIAA1000	uc003dxa.1	Q9Y2K3	OTTHUMG00000159226	ENST00000273353.3:c.5125C>T	3.37:g.108117552G>A	ENSP00000273353:p.Arg1709Cys						p.R1709C	NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN			36	5181	-			1709						Missense_Mutation	SNP	ENST00000273353.3	37	c.5125C>T	CCDS43127.1	.	.	.	.	.	.	.	.	.	.	G	13.73	2.323811	0.41096	0.0	1.2E-4	ENSG00000144821	ENST00000273353	D	0.85013	-1.93	5.15	-6.91	0.01649	Myosin tail (1);	.	.	.	.	D	0.85771	0.5774	M	0.92784	3.345	0.20403	N	0.999908	B	0.33103	0.397	B	0.37989	0.262	T	0.78797	-0.2063	9	0.62326	D	0.03	.	5.6195	0.17450	0.4161:0.0:0.3622:0.2218	.	1709	Q9Y2K3	MYH15_HUMAN	C	1709	ENSP00000273353:R1709C	ENSP00000273353:R1709C	R	-	1	0	MYH15	109600242	0.000000	0.05858	0.000000	0.03702	0.069000	0.16628	-0.267000	0.08619	-0.945000	0.03681	-0.140000	0.14226	CGT		0.527	MYH15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353935.1	XM_036988		74	113	0	0	0	1	0	74	113					A	108117552	G	A	108117552	3	1	435	1	0	0	0	0	1	0	0	0	10034	1087	38	1	743	1	MYH15	3	108117552	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	45031	108117552	89904878	1965	22890											
MYH15	22989	broad.mit.edu	37	chr3	108163617	108163617	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cacactcttccttcagtccaGctacttcttctcctacttct	6	16	2	17	0	5	0	1	0	4	0	8	0	7	0	3	0	3	1	3	0	2	7			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:108163617G>A	ENST00000273353.3	-	23	2641	c.2585C>T	c.(2584-2586)gCt>gTt	p.A862V		NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN	myosin, heavy chain 15	862						cytoplasm (GO:0005737)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						CTTCAGTCCAGCTACTTCTTC	0.443																																						ENST00000273353.3																			0				NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						c.(2584-2586)gCt>gTt		myosin, heavy chain 15							137	130	132					3																	108163617		1975	4176	6151	SO:0001583	missense	22989					myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity	g.chr3:108163617G>A	AB023217	CCDS43127.1	3q13	2011-09-27	2006-09-29		ENSG00000144821	ENSG00000144821		"Myosins / Myosin superfamily : Class II"	31073	protein-coding gene	gene with protein product		609929	"myosin, heavy polypeptide 15"			15014174, 15042088	Standard	NM_014981		Approved	KIAA1000	uc003dxa.1	Q9Y2K3	OTTHUMG00000159226	ENST00000273353.3:c.2585C>T	3.37:g.108163617G>A	ENSP00000273353:p.Ala862Val						p.A862V	NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN			23	2641	-			862						Missense_Mutation	SNP	ENST00000273353.3	37	c.2585C>T	CCDS43127.1	.	.	.	.	.	.	.	.	.	.	G	10.87	1.472524	0.26423	.	.	ENSG00000144821	ENST00000273353	D	0.93488	-3.23	5.27	0.0731	0.14389	.	.	.	.	.	D	0.91226	0.7235	M	0.62723	1.935	0.32156	N	0.583523	B	0.25609	0.13	B	0.30782	0.12	D	0.87972	0.2737	9	0.66056	D	0.02	.	10.3398	0.43870	0.3603:0.0:0.6397:0.0	.	862	Q9Y2K3	MYH15_HUMAN	V	862	ENSP00000273353:A862V	ENSP00000273353:A862V	A	-	2	0	MYH15	109646307	0.980000	0.34600	0.000000	0.03702	0.001000	0.01503	1.766000	0.38491	0.014000	0.14944	-0.355000	0.07637	GCT		0.443	MYH15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353935.1	XM_036988		32	54	0	0	0	1	0	32	54					A	108163617	G	A	108163617	3	1	435	1	0	0	0	0	1	0	0	0	10034	971	34	3	3335	3	MYH15	3	108163617	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	46065	108163617	89858813	1966	22891											
MYH15	22989	broad.mit.edu	37	chr3	108175705	108175705	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccattacagcgcaactgctgTagaaccaagtaagggtccag	13	7	10	11	1	0	1	0	0	0	1	1	1	1	1	3	1	5	4	3	1	6	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:108175705T>C	ENST00000273353.3	-	20	2162	c.2106A>G	c.(2104-2106)ctA>ctG	p.L702L	MYH15_ENST00000495753.2_5'UTR	NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN	myosin, heavy chain 15	702	Myosin motor.					cytoplasm (GO:0005737)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						GCAACTGCTGTAGAACCAAGT	0.413																																						ENST00000273353.3																			0				NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						c.(2104-2106)ctA>ctG		myosin, heavy chain 15							134	123	126					3																	108175705		1841	4083	5924	SO:0001819	synonymous_variant	22989					myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity	g.chr3:108175705T>C	AB023217	CCDS43127.1	3q13	2011-09-27	2006-09-29		ENSG00000144821	ENSG00000144821		"Myosins / Myosin superfamily : Class II"	31073	protein-coding gene	gene with protein product		609929	"myosin, heavy polypeptide 15"			15014174, 15042088	Standard	NM_014981		Approved	KIAA1000	uc003dxa.1	Q9Y2K3	OTTHUMG00000159226	ENST00000273353.3:c.2106A>G	3.37:g.108175705T>C						MYH15_ENST00000495753.2_5'UTR	p.L702L	NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN			20	2162	-			702			Myosin head-like.			Silent	SNP	ENST00000273353.3	37	c.2106A>G	CCDS43127.1																																																																																				0.413	MYH15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353935.1	XM_036988		39	63	0	0	0	1	0	39	63					C	108175705	T	C	108175705	2	2	435	1	0	0	0	0	0	0	0	1	10034	1625	57	4		4	MYH15	3	108175705	Silent	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	12088	108175705	89846725	1967	22892											
DZIP3	9666	broad.mit.edu	37	chr3	108363630	108363630	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttatcctgctatcaacaaggTactaaatgattatttacttc	13	16	4	8	0	1	1	1	1	0	0	3	1	2	1	1	1	4	2	1	1	9	8			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:108363630T>C	ENST00000361582.3	+	14	1989		c.e14+2		DZIP3_ENST00000463306.1_Splice_Site	NM_014648.3	NP_055463.1	Q86Y13	DZIP3_HUMAN	DAZ interacting zinc finger protein 3						protein polyubiquitination (GO:0000209)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|phosphatase binding (GO:0019902)|poly(A) RNA binding (GO:0044822)|polyubiquitin binding (GO:0031593)|RNA binding (GO:0003723)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(21)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	45						ATCAACAAGGTACTAAATGAT	0.418																																						ENST00000361582.3																			0				breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(21)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	45						c.e14+2		DAZ interacting zinc finger protein 3							52	50	51					3																	108363630		2203	4299	6502	SO:0001630	splice_region_variant	9666				protein polyubiquitination	cytoplasm	polyubiquitin binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr3:108363630T>C	AF279370	CCDS2952.1	3q13.13	2013-05-22	2013-05-22		ENSG00000198919	ENSG00000198919		"RING-type (C3HC4) zinc fingers", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	30938	protein-coding gene	gene with protein product	"human RNA-binding ubiquitin ligase of 138 kDa", "protein phosphatase 1, regulatory subunit 66"	608672	"DAZ interacting protein 3, zinc finger"			9734811, 12538761	Standard	NM_014648		Approved	hRUL138, PPP1R66	uc003dxd.3	Q86Y13	OTTHUMG00000159232	ENST00000361582.3:c.1759+2T>C	3.37:g.108363630T>C						DZIP3_ENST00000463306.1_Splice_Site		NM_014648.3	NP_055463.1	Q86Y13	DZIP3_HUMAN			14	1989	+								B3KN01|O75162|Q6P3R9|Q6PH82|Q86Y14|Q86Y15|Q86Y16|Q8IWI0|Q96RS9	Splice_Site	SNP	ENST00000361582.3	37		CCDS2952.1	.	.	.	.	.	.	.	.	.	.	T	15.90	2.970210	0.53614	.	.	ENSG00000198919	ENST00000361582;ENST00000479138;ENST00000463306	.	.	.	4.37	4.37	0.52481	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.2663	0.43457	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	DZIP3	109846320	1.000000	0.71417	1.000000	0.80357	0.921000	0.55340	3.090000	0.50191	2.191000	0.70037	0.482000	0.46254	.		0.418	DZIP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353968.1	NM_014648	Intron	16	17	0	0	0	1	0	16	17					C	108363630	T	C	108363630	5	2	435	1	0	0	0	0	0	0	1	0	4865	1652	57	4	1811	4	DZIP3	3	108363630	Splice_Site	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	187925	108363630	89658800	1968	22893											
MORC1	27136	broad.mit.edu	37	chr3	108677852	108677852	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catttttttctaaagggagtCtatgtcttgcatctatagtt	9	19	7	6	0	4	0	0	0	4	0	4	1	4	1	0	1	1	2	0	1	5	9			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:108677852C>A	ENST00000483760.1	-	27	2895	c.2852G>T	c.(2851-2853)aGa>aTa	p.R951I	MORC1_ENST00000232603.5_Missense_Mutation_p.R972I					MORC family CW-type zinc finger 1											breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						taaagggagtctatgtcttgc	0.299																																						ENST00000232603.5																			0				breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						c.(2914-2916)aGa>aTa		MORC family CW-type zinc finger 1							38	39	39					3																	108677852		2203	4298	6501	SO:0001583	missense	27136				cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding	g.chr3:108677852C>A	AF084946	CCDS2955.1	3q13	2011-10-26	2005-06-15	2005-06-15	ENSG00000114487	ENSG00000114487			7198	protein-coding gene	gene with protein product	"cancer/testis antigen 33"	603205	"microrchidia (mouse) homolog", "microrchidia homolog (mouse)"	MORC		10369865	Standard	NM_014429		Approved	ZCW6, CT33	uc003dxl.3	Q86VD1	OTTHUMG00000159209	ENST00000483760.1:c.2852G>T	3.37:g.108677852C>A	ENSP00000417282:p.Arg951Ile					MORC1_ENST00000483760.1_Missense_Mutation_p.R951I	p.R972I	NM_014429.3	NP_055244.3	Q86VD1	MORC1_HUMAN			28	2997	-			972						Missense_Mutation	SNP	ENST00000483760.1	37	c.2915G>T		.	.	.	.	.	.	.	.	.	.	C	9.844	1.191701	0.21954	.	.	ENSG00000114487	ENST00000232603;ENST00000483760	T;T	0.05996	3.37;3.36	4.89	-7.64	0.01286	.	3.493390	0.00616	N	0.000437	T	0.03477	0.0100	N	0.14661	0.345	0.09310	N	1	B;B	0.11235	0.004;0.004	B;B	0.09377	0.004;0.004	T	0.40346	-0.9568	10	0.72032	D	0.01	2.6232	2.9736	0.05930	0.1036:0.1819:0.3992:0.3153	.	951;972	E7ERX1;Q86VD1	.;MORC1_HUMAN	I	972;951	ENSP00000232603:R972I;ENSP00000417282:R951I	ENSP00000232603:R972I	R	-	2	0	MORC1	110160542	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.559000	0.02162	-1.235000	0.02545	0.650000	0.86243	AGA		0.299	MORC1-002	NOVEL	basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000353844.1			18	19	1	0	1.99824e-07	1	2.09433e-07	18	19					A	108677852	C	A	108677852	3	1	435	1	0	0	0	0	1	0	0	0	9701	913	32	5	43	5	MORC1	3	108677852	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	314222	108677852	89344578	1969	22894											
PVRL3	25945	broad.mit.edu	37	chr3	110852711	110852711	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgctataggagaagacggacGtttcgtggagactactttgc	10	11	13	7	3	0	3	0	0	0	3	1	6	0	4	0	3	3	2	0	3	4	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:110852711G>A	ENST00000485303.1	+	6	1574	c.1299G>A	c.(1297-1299)acG>acA	p.T433T	PVRL3_ENST00000493615.1_Intron|PVRL3_ENST00000319792.3_3'UTR	NM_001243286.1|NM_015480.2	NP_001230215.1|NP_056295.1	Q9NQS3	PVRL3_HUMAN	poliovirus receptor-related 3	433					adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|fertilization (GO:0009566)|homophilic cell adhesion (GO:0007156)|lens morphogenesis in camera-type eye (GO:0002089)|retina morphogenesis in camera-type eye (GO:0060042)|single organismal cell-cell adhesion (GO:0016337)	apical junction complex (GO:0043296)|cell-cell adherens junction (GO:0005913)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	cell adhesion molecule binding (GO:0050839)|protein homodimerization activity (GO:0042803)			breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(3)	19						GAAGACGGACGTTTCGTGGAG	0.413																																						ENST00000485303.1																			0				breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(3)	19						c.(1297-1299)acG>acA		poliovirus receptor-related 3							136	135	135					3																	110852711		2203	4300	6503	SO:0001819	synonymous_variant	25945				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane	cell adhesion molecule binding|protein homodimerization activity	g.chr3:110852711G>A	AF282874	CCDS2957.1, CCDS58842.1, CCDS58843.1	3q13	2013-01-29			ENSG00000177707	ENSG00000177707		"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	17664	protein-coding gene	gene with protein product		607147				11024295	Standard	NM_015480		Approved	nectin-3, PPR3, PVRR3, DKFZP566B0846, CDw113, CD113	uc003dxt.2	Q9NQS3	OTTHUMG00000159239	ENST00000485303.1:c.1299G>A	3.37:g.110852711G>A						PVRL3_ENST00000493615.1_Intron|PVRL3_ENST00000319792.3_3'UTR	p.T433T	NM_001243286.1|NM_015480.2	NP_001230215.1|NP_056295.1	Q9NQS3	PVRL3_HUMAN			6	1574	+			433					E9PFR0|Q6NVZ3|Q8NC05|Q8WVU4|Q9BVA9|Q9Y412	Silent	SNP	ENST00000485303.1	37	c.1299G>A	CCDS2957.1																																																																																				0.413	PVRL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354045.1	NM_015480		7	70	0	0	0	1	0	7	70					A	110852711	G	A	110852711	2	1	435	1	0	0	0	0	0	0	0	1	12841	1132	40	1		1	PVRL3	3	110852711	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	2174859	110852711	87169719	1970	22895											
PHLDB2	257068	broad.mit.edu	37	chr3	111564770	111564770	+	3'UTR	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggaagatggagttggtgatGtgcaacatttcggtgagaac	12	10	15	4	1	0	3	0	2	0	2	1	6	0	5	0	4	3	2	0	4	3	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:111564770G>A	ENST00000477665.1	+	0	1378				PHLDB2_ENST00000393923.3_Missense_Mutation_p.V19M|PLCXD2_ENST00000393934.3_3'UTR	NM_001185106.1	NP_001172035.1	Q0VAA5	PLCX2_HUMAN	phosphatidylinositol-specific phospholipase C, X domain containing 2						lipid catabolic process (GO:0016042)		phosphoric diester hydrolase activity (GO:0008081)|signal transducer activity (GO:0004871)			endometrium(1)|large_intestine(5)|lung(9)|prostate(1)|skin(1)	17						AGTTGGTGATGTGCAACATTT	0.428																																						ENST00000393923.3																			0				breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1)	55						c.(55-57)Gtg>Atg		pleckstrin homology-like domain, family B, member 2							321	293	301					3																	111564770		692	1591	2283	SO:0001624	3_prime_UTR_variant	90102					cytoplasm|intermediate filament cytoskeleton|plasma membrane		g.chr3:111564770G>A	AK056141	CCDS2961.1, CCDS54619.1	3q13.2	2004-09-09			ENSG00000240891	ENSG00000240891			26462	protein-coding gene	gene with protein product							Standard	NM_001185106		Approved	FLJ31579	uc003dxz.3	Q0VAA5	OTTHUMG00000159279	ENST00000477665.1:c.*136G>A	3.37:g.111564770G>A						PLCXD2_ENST00000477665.1_3'UTR|PLCXD2_ENST00000393934.3_3'UTR	p.V19M	NM_001134437.1	NP_001127909.1	Q86SQ0	PHLB2_HUMAN			2	310	+			0					Q96N12	Missense_Mutation	SNP	ENST00000477665.1	37	c.55G>A	CCDS54619.1	.	.	.	.	.	.	.	.	.	.	G	13.10	2.136994	0.37728	.	.	ENSG00000144824	ENST00000359729;ENST00000393923	T	0.34667	1.35	4.25	0.311	0.15831	.	.	.	.	.	T	0.16685	0.0401	N	0.08118	0	0.09310	N	1	B	0.25206	0.12	B	0.24269	0.052	T	0.20306	-1.0279	9	0.45353	T	0.12	.	4.7704	0.13153	0.2035:0.364:0.4324:0.0	.	19	Q86SQ0-3	.	M	19	ENSP00000377500:V19M	ENSP00000352764:V19M	V	+	1	0	PHLDB2	113047460	0.000000	0.05858	0.000000	0.03702	0.850000	0.48378	-0.738000	0.04871	0.040000	0.15660	0.561000	0.74099	GTG		0.428	PLCXD2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000354322.1	NM_153268		7	64	0	0	0	1	0	7	64					A	111564770	G	A	111564770	1	1	435	0	1	0	0	0	0	0	0	0	11852	1377	48	3		3	PHLDB2	3	111564770	3'UTR	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	712059	111564770	86457660	1971	22896											
C3orf52	79669	broad.mit.edu	37	chr3	111821806	111821806	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaattgcctcacctgctcacCgaaagggtaattccatctta	11	11	7	12	1	3	0	2	0	1	0	4	2	4	0	4	1	2	2	4	1	4	4	rs199685620	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:111821806C>T	ENST00000264848.5	+	3	449	c.390C>T	c.(388-390)acC>acT	p.T130T	C3orf52_ENST00000431717.2_Silent_p.T130T|C3orf52_ENST00000430855.1_Silent_p.T130T	NM_024616.2	NP_078892	Q5BVD1	TTMP_HUMAN	chromosome 3 open reading frame 52	130						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(1)|lung(1)|urinary_tract(1)	4						ACCTGCTCACCGAAAGGGTAA	0.353													C|||	3	0.000599042	0.0015	0.0014	5008	,	,		19995	0		0	False		,,,				2504	0					ENST00000264848.5																			0				endometrium(1)|large_intestine(1)|lung(1)|urinary_tract(1)	4						c.(388-390)acC>acT		chromosome 3 open reading frame 52		C	,	7,3755		0,7,1874	72	67	69		390,390	-3.7	0	3		69	2,8216		0,2,4107	no	coding-synonymous,coding-synonymous	C3orf52	NM_001171747.1,NM_024616.2	,	0,9,5981	TT,TC,CC		0.0243,0.1861,0.0751	,	130/251,130/218	111821806	9,11971	1881	4109	5990	SO:0001819	synonymous_variant	79669					endoplasmic reticulum membrane|integral to membrane		g.chr3:111821806C>T	AY830714	CCDS46887.1, CCDS54620.1	3q13.2	2006-01-30			ENSG00000114529	ENSG00000114529			26255	protein-coding gene	gene with protein product	"TPA induced trans-membrane protein"	611956				15737651	Standard	NM_024616		Approved	FLJ23186, TTMP	uc011bhs.2	Q5BVD1	OTTHUMG00000159230	ENST00000264848.5:c.390C>T	3.37:g.111821806C>T						C3orf52_ENST00000430855.1_Silent_p.T130T|C3orf52_ENST00000431717.2_Silent_p.T130T	p.T130T	NM_024616.2	NP_078892.2	Q5BVD1	TTMP_HUMAN			3	449	+			130					B4DNV2|B4E0Z2|Q96AJ4|Q9H5Q1	Silent	SNP	ENST00000264848.5	37	c.390C>T	CCDS46887.1	.	.	.	.	.	.	.	.	.	.	C	0.062	-1.222704	0.01530	0.001861	2.43E-4	ENSG00000114529	ENST00000484828	.	.	.	5.66	-3.71	0.04424	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-34.1918	7.6986	0.28608	0.0:0.4445:0.1947:0.3608	.	.	.	.	X	121	.	.	R	+	1	2	C3orf52	113304496	0.000000	0.05858	0.001000	0.08648	0.107000	0.19398	-1.136000	0.03222	-0.677000	0.05231	0.305000	0.20034	CGA		0.353	C3orf52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353961.1	NM_024616		7	16	0	0	0	1	0	7	16					T	111821806	C	T	111821806	2	4	435	1	0	0	0	0	0	0	0	1	2232	639	23	2		2	C3orf52	3	111821806	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	257036	111821806	86200624	1972	22897											
SLC9A10	285335	broad.mit.edu	37	chr3	111996574	111996574	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tagcagctgcggttagcatgGgatctgaactcacaaggata	12	9	12	8	1	2	1	1	1	1	0	2	3	2	3	0	3	5	4	0	3	5	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:111996574G>A	ENST00000305815.5	-	5	704	c.452C>T	c.(451-453)cCc>cTc	p.P151L	SLC9C1_ENST00000487372.1_Missense_Mutation_p.P151L|SLC9C1_ENST00000467397.1_5'Flank	NM_183061.1	NP_898884.1	Q4G0N8	SL9C1_HUMAN	solute carrier family 9, subfamily C (Na+-transporting carboxylic acid decarboxylase), member 1	151					cell differentiation (GO:0030154)|ion transmembrane transport (GO:0034220)|multicellular organismal development (GO:0007275)|sodium ion transport (GO:0006814)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|motile cilium (GO:0031514)|plasma membrane (GO:0005886)	solute:proton antiporter activity (GO:0015299)										GGTTAGCATGGGATCTGAACT	0.318																																						ENST00000305815.5																			0											c.(451-453)cCc>cTc		solute carrier family 9, subfamily C (Na+-transporting carboxylic acid decarboxylase), member 1							80	86	84					3																	111996574		2203	4300	6503	SO:0001583	missense	285335				cell differentiation|multicellular organismal development|sodium ion transport|spermatogenesis	cilium|flagellar membrane|integral to membrane	solute:hydrogen antiporter activity	g.chr3:111996574G>A	AK128084	CCDS33817.1	3q13	2013-05-22	2012-03-22	2012-03-22	ENSG00000172139	ENSG00000172139		"Solute carriers"	31401	protein-coding gene	gene with protein product	"sperm-NHE"	612738	"solute carrier family 9, isoform 10", "solute carrier family 9, member 10"	SLC9A10		12783626	Standard	NM_183061		Approved	NHE	uc003dyu.3	Q4G0N8	OTTHUMG00000159245	ENST00000305815.5:c.452C>T	3.37:g.111996574G>A	ENSP00000306627:p.Pro151Leu					SLC9C1_ENST00000487372.1_Missense_Mutation_p.P151L	p.P151L	NM_183061.1	NP_898884.1	Q4G0N8	S9A10_HUMAN			5	704	-			151					Q6ZRP4|Q7RTP2	Missense_Mutation	SNP	ENST00000305815.5	37	c.452C>T	CCDS33817.1	.	.	.	.	.	.	.	.	.	.	G	17.36	3.371105	0.61624	.	.	ENSG00000172139	ENST00000305815;ENST00000487372;ENST00000486574	T;T;T	0.19532	2.14;2.14;2.14	5.45	5.45	0.79879	Cation/H+ exchanger (1);	0.000000	0.56097	D	0.000037	T	0.43344	0.1243	L	0.58101	1.795	0.48696	D	0.999692	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.27839	-1.0062	10	0.87932	D	0	.	14.7775	0.69740	0.0:0.0:1.0:0.0	.	151;151	Q4G0N8-2;Q4G0N8	.;S9A10_HUMAN	L	151;151;78	ENSP00000306627:P151L;ENSP00000420688:P151L;ENSP00000417274:P78L	ENSP00000306627:P151L	P	-	2	0	SLC9A10	113479264	1.000000	0.71417	1.000000	0.80357	0.313000	0.28021	4.760000	0.62235	2.549000	0.85964	0.655000	0.94253	CCC		0.318	SLC9C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354066.1	NM_183061		30	58	0	0	0	1	0	30	58					A	111996574	G	A	111996574	3	1	435	1	0	0	0	0	1	0	0	0	14710	1232	43	3	3181	3	SLC9A10	3	111996574	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	174768	111996574	86025856	1973	22898											
CCDC80	151887	broad.mit.edu	37	chr3	112337901	112337901	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cctcagctcgctgatgagacGctggtctaccaagtcttcat	8	11	9	13	2	4	2	2	2	2	1	5	3	4	2	2	1	2	3	2	1	2	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:112337901G>A	ENST00000206423.3	-	4	3039	c.2086C>T	c.(2086-2088)Cgt>Tgt	p.R696C	CCDC80_ENST00000439685.2_Missense_Mutation_p.R696C	NM_199511.1|NM_199512.1	NP_955805.1|NP_955806.1	Q76M96	CCD80_HUMAN	coiled-coil domain containing 80	696					extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	basement membrane (GO:0005604)|interstitial matrix (GO:0005614)	heparin binding (GO:0008201)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(21)|ovary(3)|pancreas(2)|prostate(4)	51						CTGATGAGACGCTGGTCTACC	0.438																																						ENST00000206423.3																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(21)|ovary(3)|pancreas(2)|prostate(4)	51						c.(2086-2088)Cgt>Tgt		coiled-coil domain containing 80							125	107	113					3																	112337901		2203	4300	6503	SO:0001583	missense	151887							g.chr3:112337901G>A	AY333429	CCDS2968.1	3q13.2	2010-12-24			ENSG00000091986	ENSG00000091986			30649	protein-coding gene	gene with protein product	"steroid sensitive gene 1"	608298				15325258, 18178152	Standard	XM_005247135		Approved	URB, SSG1, DRO1	uc003dzf.3	Q76M96	OTTHUMG00000159265	ENST00000206423.3:c.2086C>T	3.37:g.112337901G>A	ENSP00000206423:p.Arg696Cys					CCDC80_ENST00000439685.2_Missense_Mutation_p.R696C	p.R696C	NM_199511.1|NM_199512.1	NP_955805.1|NP_955806.1	Q76M96	CCD80_HUMAN			4	3039	-			696					D3DN67|Q5PR20|Q6GPG9|Q8IVT6|Q8NBV1|Q8NHY8	Missense_Mutation	SNP	ENST00000206423.3	37	c.2086C>T	CCDS2968.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.85|16.85	3.237322|3.237322	0.58886|0.58886	.|.	.|.	ENSG00000091986|ENSG00000091986	ENST00000461431|ENST00000206423;ENST00000439685;ENST00000444594	.|T;T	.|0.43688	.|0.94;0.94	5.73|5.73	5.73|5.73	0.89815|0.89815	.|.	.|0.203051	.|0.51477	.|D	.|0.000082	T|T	0.35364|0.35364	0.0929|0.0929	N|N	0.08118|0.08118	0|0	0.37379|0.37379	D|D	0.911957|0.911957	.|D;D;D	.|0.54397	.|0.958;0.966;0.966	.|P;P;P	.|0.51055	.|0.646;0.657;0.657	T|T	0.43988|0.43988	-0.9357|-0.9357	5|10	.|0.56958	.|D	.|0.05	-16.7301|-16.7301	15.7259|15.7259	0.77761|0.77761	0.0:0.1359:0.8641:0.0|0.0:0.1359:0.8641:0.0	.|.	.|707;696;696	.|Q76M96-2;A3KC71;Q76M96	.|.;.;CCD80_HUMAN	V|C	93|696;696;324	.|ENSP00000206423:R696C;ENSP00000411814:R696C	.|ENSP00000206423:R696C	A|R	-|-	2|1	0|0	CCDC80|CCDC80	113820591|113820591	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	4.600000|4.600000	0.61083|0.61083	2.866000|2.866000	0.98385|0.98385	0.650000|0.650000	0.86243|0.86243	GCG|CGT		0.438	CCDC80-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354219.1	NM_199511		11	49	0	0	0	1	0	11	49					A	112337901	G	A	112337901	3	1	435	1	0	0	0	0	1	0	0	0	2854	1087	38	1	786	1	CCDC80	3	112337901	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	341327	112337901	85684529	1974	22899											
CCDC80	151887	broad.mit.edu	37	chr3	112357079	112357079	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctcttaagtaacttgtctgcGttctcattcttcatcttttt	6	21	4	10	1	6	0	2	0	5	0	7	0	6	0	0	0	2	2	0	0	2	8			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:112357079G>A	ENST00000206423.3	-	2	2627	c.1674C>T	c.(1672-1674)aaC>aaT	p.N558N	CCDC80_ENST00000475181.1_5'Flank|CCDC80_ENST00000439685.2_Silent_p.N558N	NM_199511.1|NM_199512.1	NP_955805.1|NP_955806.1	Q76M96	CCD80_HUMAN	coiled-coil domain containing 80	558	Lys-rich.				extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	basement membrane (GO:0005604)|interstitial matrix (GO:0005614)	heparin binding (GO:0008201)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(21)|ovary(3)|pancreas(2)|prostate(4)	51						acttgtctgcgttctcattct	0.373																																						ENST00000206423.3																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(21)|ovary(3)|pancreas(2)|prostate(4)	51						c.(1672-1674)aaC>aaT		coiled-coil domain containing 80							136	114	122					3																	112357079		2203	4300	6503	SO:0001819	synonymous_variant	151887							g.chr3:112357079G>A	AY333429	CCDS2968.1	3q13.2	2010-12-24			ENSG00000091986	ENSG00000091986			30649	protein-coding gene	gene with protein product	"steroid sensitive gene 1"	608298				15325258, 18178152	Standard	XM_005247135		Approved	URB, SSG1, DRO1	uc003dzf.3	Q76M96	OTTHUMG00000159265	ENST00000206423.3:c.1674C>T	3.37:g.112357079G>A						CCDC80_ENST00000439685.2_Silent_p.N558N	p.N558N	NM_199511.1|NM_199512.1	NP_955805.1|NP_955806.1	Q76M96	CCD80_HUMAN			2	2627	-			558			Lys-rich.		D3DN67|Q5PR20|Q6GPG9|Q8IVT6|Q8NBV1|Q8NHY8	Silent	SNP	ENST00000206423.3	37	c.1674C>T	CCDS2968.1																																																																																				0.373	CCDC80-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354219.1	NM_199511		9	10	0	0	0	1	0	9	10					A	112357079	G	A	112357079	2	1	435	1	0	0	0	0	0	0	0	1	2854	1136	40	1		1	CCDC80	3	112357079	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	19178	112357079	85665351	1975	22900											
CCDC80	151887	broad.mit.edu	37	chr3	112358653	112358653	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caaaggcactttccgtcctcCgtggctgcctctaatagtgg	7	11	10	13	2	1	0	0	0	1	0	4	0	4	0	4	3	1	2	4	3	3	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:112358653C>T	ENST00000206423.3	-	2	1053	c.100G>A	c.(100-102)Gga>Aga	p.G34R	CCDC80_ENST00000475181.1_5'UTR|CCDC80_ENST00000439685.2_Missense_Mutation_p.G34R	NM_199511.1|NM_199512.1	NP_955805.1|NP_955806.1	Q76M96	CCD80_HUMAN	coiled-coil domain containing 80	34					extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	basement membrane (GO:0005604)|interstitial matrix (GO:0005614)	heparin binding (GO:0008201)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(21)|ovary(3)|pancreas(2)|prostate(4)	51						TTCCGTCCTCCGTGGCTGCCT	0.557																																						ENST00000206423.3																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(21)|ovary(3)|pancreas(2)|prostate(4)	51						c.(100-102)Gga>Aga		coiled-coil domain containing 80							68	61	64					3																	112358653		2203	4300	6503	SO:0001583	missense	151887							g.chr3:112358653C>T	AY333429	CCDS2968.1	3q13.2	2010-12-24			ENSG00000091986	ENSG00000091986			30649	protein-coding gene	gene with protein product	"steroid sensitive gene 1"	608298				15325258, 18178152	Standard	XM_005247135		Approved	URB, SSG1, DRO1	uc003dzf.3	Q76M96	OTTHUMG00000159265	ENST00000206423.3:c.100G>A	3.37:g.112358653C>T	ENSP00000206423:p.Gly34Arg					CCDC80_ENST00000475181.1_5'UTR|CCDC80_ENST00000439685.2_Missense_Mutation_p.G34R	p.G34R	NM_199511.1|NM_199512.1	NP_955805.1|NP_955806.1	Q76M96	CCD80_HUMAN			2	1053	-			34					D3DN67|Q5PR20|Q6GPG9|Q8IVT6|Q8NBV1|Q8NHY8	Missense_Mutation	SNP	ENST00000206423.3	37	c.100G>A	CCDS2968.1	.	.	.	.	.	.	.	.	.	.	C	6.632	0.485111	0.12641	.	.	ENSG00000091986	ENST00000206423;ENST00000439685;ENST00000444594	T;T	0.50277	0.75;0.75	5.25	0.02	0.14123	.	0.536026	0.19685	N	0.108410	T	0.32285	0.0824	L	0.27053	0.805	0.09310	N	1	B;B;B	0.17268	0.014;0.021;0.008	B;B;B	0.14578	0.011;0.007;0.005	T	0.19451	-1.0305	10	0.41790	T	0.15	-0.3018	12.0584	0.53548	0.0:0.4651:0.4694:0.0655	.	45;34;34	Q76M96-2;A3KC71;Q76M96	.;.;CCD80_HUMAN	R	34	ENSP00000206423:G34R;ENSP00000411814:G34R	ENSP00000206423:G34R	G	-	1	0	CCDC80	113841343	0.000000	0.05858	0.000000	0.03702	0.165000	0.22458	0.094000	0.15107	-0.173000	0.10761	0.650000	0.86243	GGA		0.557	CCDC80-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354219.1	NM_199511		21	30	0	0	0	1	0	21	30					T	112358653	C	T	112358653	3	4	435	1	0	0	0	0	1	0	0	0	2854	661	23	2	2780	2	CCDC80	3	112358653	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	1574	112358653	85663777	1976	22901											
C3orf17	25871	broad.mit.edu	37	chr3	112724716	112724716	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcgactgcaactttctctgTggtttcctttgtctccgtaa	5	17	8	11	2	2	0	0	0	2	0	6	1	3	0	2	1	2	3	2	1	2	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:112724716T>C	ENST00000314400.5	-	9	1562	c.1371A>G	c.(1369-1371)ccA>ccG	p.P457P	C3orf17_ENST00000383675.2_Silent_p.P387P|C3orf17_ENST00000472762.1_5'Flank|C3orf17_ENST00000393857.2_Silent_p.P321P	NM_015412.3	NP_056227.2	Q6NW34	CC017_HUMAN	chromosome 3 open reading frame 17	457					negative regulation of neuron differentiation (GO:0045665)|positive regulation of Notch signaling pathway (GO:0045747)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(1)|kidney(2)|lung(6)|prostate(2)|skin(1)	13						ACTTTCTCTGTGGTTTCCTTT	0.433																																						ENST00000314400.5																			0				central_nervous_system(1)|endometrium(1)|kidney(2)|lung(6)|prostate(2)|skin(1)	13						c.(1369-1371)ccA>ccG		chromosome 3 open reading frame 17							63	57	59					3																	112724716		2203	4300	6503	SO:0001819	synonymous_variant	25871					integral to membrane		g.chr3:112724716T>C	AL117573	CCDS33824.1	3q13.2	2009-11-06			ENSG00000163608	ENSG00000163608			24496	protein-coding gene	gene with protein product						12477932	Standard	NR_027794		Approved	DKFZP434F2021, NET17	uc003dzr.3	Q6NW34	OTTHUMG00000159286	ENST00000314400.5:c.1371A>G	3.37:g.112724716T>C						C3orf17_ENST00000393857.2_Silent_p.P321P|C3orf17_ENST00000383675.2_Silent_p.P387P	p.P457P	NM_015412.3	NP_056227.2	Q6NW34	CC017_HUMAN			9	1562	-			457					D3DN69|Q68DM6|Q9H7U0|Q9UFM4	Silent	SNP	ENST00000314400.5	37	c.1371A>G	CCDS33824.1																																																																																				0.433	C3orf17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354405.3	NM_015412		16	33	0	0	0	1	0	16	33					C	112724716	T	C	112724716	2	2	435	1	0	0	0	0	0	0	0	1	2210	1683	59	4		4	C3orf17	3	112724716	Silent	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	366063	112724716	85297714	1977	22902											
BOC	91653	broad.mit.edu	37	chr3	112969475	112969475	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggcactgtgatcttgggctgCgtggtggaacctccaaggat	7	10	15	9	1	1	1	0	1	1	0	2	3	2	3	2	5	2	2	2	5	2	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:112969475C>T	ENST00000495514.1	+	4	875	c.171C>T	c.(169-171)tgC>tgT	p.C57C	BOC_ENST00000355385.3_Silent_p.C57C|BOC_ENST00000273395.4_Silent_p.C57C|BOC_ENST00000484034.1_Silent_p.C57C|BOC_ENST00000485230.1_Silent_p.C57C			Q9BWV1	BOC_HUMAN	BOC cell adhesion associated, oncogene regulated	57	Ig-like C2-type 1.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|muscle cell differentiation (GO:0042692)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of myoblast differentiation (GO:0045663)|smoothened signaling pathway (GO:0007224)	axonal growth cone (GO:0044295)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)				NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	68			Epithelial(53;0.227)			TCTTGGGCTGCGTGGTGGAAC	0.597																																						ENST00000495514.1																			0				NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	68						c.(169-171)tgC>tgT		BOC cell adhesion associated, oncogene regulated							136	129	132					3																	112969475		2203	4300	6503	SO:0001819	synonymous_variant	91653				cell adhesion|muscle cell differentiation|positive regulation of myoblast differentiation	integral to membrane|plasma membrane	protein binding	g.chr3:112969475C>T	AY027658	CCDS2971.1	3q13.2	2013-02-11	2012-12-07		ENSG00000144857	ENSG00000144857		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	17173	protein-coding gene	gene with protein product	"brother of CDO", "brother of CDON", "cell adhesion associated, oncogene regulated 2"	608708	"Boc homolog (mouse)"			11782431	Standard	NM_033254		Approved	CDON2	uc003dzy.3	Q9BWV1	OTTHUMG00000159305	ENST00000495514.1:c.171C>T	3.37:g.112969475C>T						BOC_ENST00000484034.1_Silent_p.C57C|BOC_ENST00000355385.3_Silent_p.C57C|BOC_ENST00000273395.4_Silent_p.C57C|BOC_ENST00000485230.1_Silent_p.C57C	p.C57C			Q9BWV1	BOC_HUMAN	Epithelial(53;0.227)		4	875	+			57			Ig-like C2-type 1.		A6NJ30|B2RMS8|D3DN70|Q6UXJ5|Q8N2P7|Q8NF26	Silent	SNP	ENST00000495514.1	37	c.171C>T	CCDS2971.1																																																																																				0.597	BOC-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000354485.3	NM_033254		21	24	0	0	0	1	0	21	24					T	112969475	C	T	112969475	2	4	435	1	0	0	0	0	0	0	0	1	1481	776	27	1		1	BOC	3	112969475	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	244759	112969475	85052955	1978	22903											
CCDC52	152185	broad.mit.edu	37	chr3	113172662	113172662	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccatctctgagtgaagagaCgattctcttcacttgaattc	10	14	7	10	1	3	4	1	3	2	1	7	6	4	4	1	0	0	0	1	0	2	4	rs533178014		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:113172662C>T	ENST00000295872.4	-	14	2052	c.1793G>A	c.(1792-1794)cGt>cAt	p.R598H		NM_144718.3	NP_653319.1	Q8N0Z3	SPICE_HUMAN	spindle and centriole associated protein 1	598					metaphase plate congression (GO:0051310)|regulation of centriole replication (GO:0046599)|spindle assembly involved in mitosis (GO:0090307)	centriole (GO:0005814)|centrosome (GO:0005813)|spindle (GO:0005819)				NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(3)|large_intestine(9)|lung(10)|ovary(2)|skin(2)|urinary_tract(1)	33						AGTGAAGAGACGATTCTCTTC	0.428																																						ENST00000295872.4																			0				NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(3)|large_intestine(9)|lung(10)|ovary(2)|skin(2)|urinary_tract(1)	33						c.(1792-1794)cGt>cAt		spindle and centriole associated protein 1							122	123	123					3																	113172662		2203	4300	6503	SO:0001583	missense	152185				cell division|mitosis	centriole|spindle	protein binding	g.chr3:113172662C>T	AY099107	CCDS2973.1	3q13.2	2010-09-01	2010-09-01	2010-09-01	ENSG00000163611	ENSG00000163611			25083	protein-coding gene	gene with protein product	"spindle and centriole protein"	613447	"coiled-coil domain containing 52"	CCDC52		20736305	Standard	NM_144718		Approved	SPICE	uc003eag.4	Q8N0Z3	OTTHUMG00000159261	ENST00000295872.4:c.1793G>A	3.37:g.113172662C>T	ENSP00000295872:p.Arg598His						p.R598H	NM_144718.3	NP_653319.1	Q8N0Z3	SPICE_HUMAN			14	2052	-			598					D3DN72|Q8WUX6	Missense_Mutation	SNP	ENST00000295872.4	37	c.1793G>A	CCDS2973.1	.	.	.	.	.	.	.	.	.	.	C	11.98	1.801486	0.31869	.	.	ENSG00000163611	ENST00000295872	T	0.32753	1.44	5.48	1.1	0.20463	.	0.315238	0.30840	N	0.008764	T	0.15349	0.0370	N	0.20685	0.6	0.27556	N	0.950339	B;B	0.17465	0.022;0.005	B;B	0.12156	0.007;0.003	T	0.10941	-1.0608	10	0.38643	T	0.18	-3.4341	4.2093	0.10503	0.1788:0.5674:0.0:0.2538	.	494;598	B3KX77;Q8N0Z3	.;SPICE_HUMAN	H	598	ENSP00000295872:R598H	ENSP00000295872:R598H	R	-	2	0	SPICE1	114655352	0.690000	0.27699	0.935000	0.37517	0.981000	0.71138	0.114000	0.15520	0.180000	0.19960	0.557000	0.71058	CGT		0.428	SPICE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354177.2	NM_144718		10	60	0	0	0	1	0	10	60					T	113172662	C	T	113172662	3	4	435	1	0	0	0	0	1	0	0	0	2822	536	19	1	794	1	CCDC52	3	113172662	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	203187	113172662	84849768	1979	22904											
SIDT1	54847	broad.mit.edu	37	chr3	113342297	113342297	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctctttggattgatataccGccccagggactttgcttcct	6	14	8	13	1	1	1	0	1	1	0	2	3	2	3	5	2	2	1	5	2	2	6	rs199694823		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:113342297G>A	ENST00000264852.4	+	22	2840	c.2114G>A	c.(2113-2115)cGc>cAc	p.R705H	SIDT1_ENST00000393830.3_Missense_Mutation_p.R710H|SIDT1_ENST00000463226.1_3'UTR	NM_017699.2	NP_060169.2	Q9NXL6	SIDT1_HUMAN	SID1 transmembrane family, member 1	705					dsRNA transport (GO:0033227)	integral component of membrane (GO:0016021)	RNA transmembrane transporter activity (GO:0051033)			breast(1)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|liver(2)|lung(15)|ovary(3)|pancreas(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50						TTGATATACCGCCCCAGGGAC	0.527																																						ENST00000264852.4																			0				breast(1)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|liver(2)|lung(15)|ovary(3)|pancreas(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50						c.(2113-2115)cGc>cAc		SID1 transmembrane family, member 1							106	108	107					3																	113342297		2203	4300	6503	SO:0001583	missense	54847					integral to membrane		g.chr3:113342297G>A	AK000181	CCDS2974.1	3q13.31	2009-11-26			ENSG00000072858	ENSG00000072858			25967	protein-coding gene	gene with protein product		606816					Standard	NM_017699		Approved	FLJ20174, SID-1	uc003eak.3	Q9NXL6	OTTHUMG00000159299	ENST00000264852.4:c.2114G>A	3.37:g.113342297G>A	ENSP00000264852:p.Arg705His					SIDT1_ENST00000463226.1_3'UTR|SIDT1_ENST00000393830.3_Missense_Mutation_p.R710H	p.R705H	NM_017699.2	NP_060169.2	Q9NXL6	SIDT1_HUMAN			22	2840	+			705					Q17RR4	Missense_Mutation	SNP	ENST00000264852.4	37	c.2114G>A	CCDS2974.1	.	.	.	.	.	.	.	.	.	.	G	18.43	3.622090	0.66787	.	.	ENSG00000072858	ENST00000264852;ENST00000393830	T;T	0.22336	1.96;1.96	5.62	5.62	0.85841	.	0.000000	0.56097	D	0.000022	T	0.18002	0.0432	L	0.38175	1.15	0.58432	D	0.999997	P;B	0.35411	0.5;0.344	B;B	0.30855	0.074;0.121	T	0.03840	-1.0999	10	0.20519	T	0.43	-9.6898	18.4243	0.90604	0.0:0.0:1.0:0.0	.	710;705	Q9NXL6-2;Q9NXL6	.;SIDT1_HUMAN	H	705;710	ENSP00000264852:R705H;ENSP00000377416:R710H	ENSP00000264852:R705H	R	+	2	0	SIDT1	114824987	0.974000	0.33945	0.935000	0.37517	0.881000	0.50899	4.606000	0.61126	2.646000	0.89796	0.655000	0.94253	CGC		0.527	SIDT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317564.1	NM_017699		58	89	0	0	0	1	0	58	89					A	113342297	G	A	113342297	3	1	435	1	0	0	0	0	1	0	0	0	14302	1087	38	1	2200	1	SIDT1	3	113342297	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	169635	113342297	84680133	1980	22905											
KIAA2018	205717	broad.mit.edu	37	chr3	113375667	113375667	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gcattggattatggccagatAcatgttcagatgaaacccct	12	11	9	9	0	1	3	1	1	0	2	1	4	1	4	3	2	2	2	3	2	3	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:113375667A>G	ENST00000478658.1	-	5	4879	c.4862T>C	c.(4861-4863)gTa>gCa	p.V1621A	KIAA2018_ENST00000316407.4_Missense_Mutation_p.V1621A|KIAA2018_ENST00000491165.1_Intron			Q68DE3	K2018_HUMAN	KIAA2018	1621						membrane (GO:0016020)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity (GO:0004571)			NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	80						ATGGCCAGATACATGTTCAGA	0.448																																						ENST00000316407.4																			0				NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	80						c.(4861-4863)gTa>gCa		KIAA2018							148	136	140					3																	113375667		1929	4147	6076	SO:0001583	missense	205717				regulation of transcription, DNA-dependent	membrane|nucleus	calcium ion binding|DNA binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity	g.chr3:113375667A>G	AB095938	CCDS43133.1	3q13.2	2014-01-02			ENSG00000176542	ENSG00000176542			30494	protein-coding gene	gene with protein product							Standard	XM_005247208		Approved		uc003eam.3	Q68DE3	OTTHUMG00000159322	ENST00000478658.1:c.4862T>C	3.37:g.113375667A>G	ENSP00000420721:p.Val1621Ala					KIAA2018_ENST00000491165.1_Intron|KIAA2018_ENST00000478658.1_Missense_Mutation_p.V1621A	p.V1621A	NM_001009899.2	NP_001009899.2	Q68DE3	K2018_HUMAN			7	5272	-			1621					Q7Z3L9|Q8IVF3|Q9H8T4	Missense_Mutation	SNP	ENST00000478658.1	37	c.4862T>C	CCDS43133.1	.	.	.	.	.	.	.	.	.	.	A	14.94	2.686653	0.47991	.	.	ENSG00000176542	ENST00000316407;ENST00000478658	T;T	0.15256	2.44;2.44	5.84	4.62	0.57501	.	0.442663	0.23069	N	0.052283	T	0.11580	0.0282	N	0.24115	0.695	0.30902	N	0.72911	B	0.34015	0.435	B	0.27262	0.078	T	0.07065	-1.0792	10	0.59425	D	0.04	-6.7218	12.7456	0.57280	0.8632:0.1368:0.0:0.0	.	1621	Q68DE3	K2018_HUMAN	A	1621	ENSP00000320794:V1621A;ENSP00000420721:V1621A	ENSP00000320794:V1621A	V	-	2	0	KIAA2018	114858357	0.059000	0.20769	0.994000	0.49952	0.985000	0.73830	2.578000	0.46051	2.228000	0.72767	0.533000	0.62120	GTA		0.448	KIAA2018-003	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000354591.1	NM_001009899		20	25	0	0	0	1	0	20	25					G	113375667	A	G	113375667	3	3	435	1	0	0	0	0	1	0	0	0	8268	391	14	4	1879	4	KIAA2018	3	113375667	Missense_Mutation	SNP	A	TCGA-XK-AAIW-01A-11D-A41K-08	33370	113375667	84646763	1981	22906											
NAA50	80218	broad.mit.edu	37	chr3	113442298	113442298	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccttcggtaaggtgccagaCatcctagtgtcatgatgtaa	10	11	11	9	1	1	2	1	1	0	1	3	2	2	2	3	2	1	2	3	2	3	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:113442298C>T	ENST00000240922.3	-	3	560	c.236G>A	c.(235-237)tGt>tAt	p.C79Y	NAA50_ENST00000467022.1_5'Flank|NAA50_ENST00000493900.1_Missense_Mutation_p.C78Y|NAA50_ENST00000497525.1_Missense_Mutation_p.C5Y|NAA50_ENST00000477813.1_Intron|NAA50_ENST00000497255.1_Intron|NAA50_ENST00000493454.1_Missense_Mutation_p.C5Y	NM_025146.2	NP_079422.1	Q9GZZ1	NAA50_HUMAN	N(alpha)-acetyltransferase 50, NatE catalytic subunit	79	Coenzyme A binding.|N-acetyltransferase. {ECO:0000255|PROSITE-ProRule:PRU00532}.				histone H4 acetylation (GO:0043967)|mitotic sister chromatid cohesion, centromeric (GO:0071962)|N-terminal protein amino acid acetylation (GO:0006474)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	H4 histone acetyltransferase activity (GO:0010485)|peptide alpha-N-acetyltransferase activity (GO:0004596)|peptidyl-lysine N-acetyltransferase activity, acting on acetyl phosphate as donor (GO:0052858)			large_intestine(2)|lung(2)|skin(1)	5						AGGTGCCAGACATCCTAGTGT	0.388																																						ENST00000240922.2																			0				large_intestine(2)|lung(2)|skin(1)	5						c.(235-237)tGt>tAt		N(alpha)-acetyltransferase 50, NatE catalytic subunit							109	100	103					3																	113442298		2203	4300	6503	SO:0001583	missense	80218				N-terminal protein amino acid acetylation	cytoplasm	N-acetyltransferase activity|protein binding	g.chr3:113442298C>T	AK023256	CCDS2975.1	3q13.31	2010-05-07	2010-01-14	2010-01-14	ENSG00000121579	ENSG00000121579	2.3.1.-	"N(alpha)-acetyltransferase subunits"	29533	protein-coding gene	gene with protein product		610834	"Mak3 homolog (S. cerevisiae)", "N-acetyltransferase 13", "N-acetyltransferase 13 (GCN5-related)"	MAK3, NAT13		16507339, 17502424, 19660095	Standard	NM_025146		Approved	FLJ13194, NAT5, San	uc003ean.2	Q9GZZ1	OTTHUMG00000159294	ENST00000240922.3:c.236G>A	3.37:g.113442298C>T	ENSP00000240922:p.Cys79Tyr					NAA50_ENST00000497525.1_Missense_Mutation_p.C5Y|NAA50_ENST00000497255.1_Intron|NAA50_ENST00000477813.1_Intron|NAA50_ENST00000493900.1_Missense_Mutation_p.C78Y|NAA50_ENST00000493454.1_Missense_Mutation_p.C5Y	p.C79Y	NM_025146.2	NP_079422.1	Q9GZZ1	NAA50_HUMAN			3	560	-			79			Coenzyme A binding.|N-acetyltransferase.		D3DN74|Q68DQ1	Missense_Mutation	SNP	ENST00000240922.3	37	c.236G>A	CCDS2975.1	.	.	.	.	.	.	.	.	.	.	c	31	5.075822	0.94000	.	.	ENSG00000121579	ENST00000240922;ENST00000497525;ENST00000493454;ENST00000493900	T;T;T;T	0.41758	0.99;0.99;0.99;0.99	5.9	5.9	0.94986	GCN5-related N-acetyltransferase (GNAT) domain (2);Acyl-CoA N-acyltransferase (2);	0.000000	0.85682	D	0.000000	T	0.68439	0.3001	M	0.79475	2.455	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	T	0.70110	-0.4962	10	0.87932	D	0	-3.3875	20.2704	0.98474	0.0:1.0:0.0:0.0	.	79	Q9GZZ1	NAA50_HUMAN	Y	79;5;5;78	ENSP00000240922:C79Y;ENSP00000417488:C5Y;ENSP00000418473:C5Y;ENSP00000417837:C78Y	ENSP00000240922:C79Y	C	-	2	0	NAA50	114924988	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.793000	0.96121	0.591000	0.81541	TGT		0.388	NAA50-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000354446.2	NM_025146		19	31	0	0	0	1	0	19	31					T	113442298	C	T	113442298	3	4	435	1	0	0	0	0	1	0	0	0	10126	478	17	3	285	3	NAA50	3	113442298	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	66631	113442298	84580132	1982	22907											
ATP6V1A	523	broad.mit.edu	37	chr3	113514787	113514787	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ccactcttggtatcgttcagGtatgtctttccctagtatag	7	16	8	10	1	3	0	1	0	2	0	5	0	4	0	2	2	0	4	2	2	5	8			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:113514787G>A	ENST00000273398.3	+	11	1398		c.e11+1		ATP6V1A_ENST00000538620.1_Splice_Site	NM_001690.3	NP_001681.2	P38606	VATA_HUMAN	ATPase, H+ transporting, lysosomal 70kDa, V1 subunit A						ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|microvillus (GO:0005902)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|proton-transporting two-sector ATPase complex (GO:0016469)|proton-transporting V-type ATPase, V1 domain (GO:0033180)	ATP binding (GO:0005524)|proton-transporting ATPase activity, rotational mechanism (GO:0046961)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34					Alendronate(DB00630)|Etidronic acid(DB01077)|Tiludronate(DB01133)	TATCGTTCAGGTATGTCTTTC	0.378																																						ENST00000273398.3																			0				breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						c.e11+1		ATPase, H+ transporting, lysosomal 70kDa, V1 subunit A							149	139	142					3																	113514787		2203	4300	6503	SO:0001630	splice_region_variant	523				ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|integral to plasma membrane|proton-transporting V-type ATPase, V1 domain	ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism	g.chr3:113514787G>A	L09235	CCDS2976.1	3q13.31	2010-04-21	2002-08-29	2003-04-25	ENSG00000114573	ENSG00000114573	3.6.3.14	"ATPases / V-type"	851	protein-coding gene	gene with protein product		607027	"ATPase, H+ transporting, lysosomal (vacuolar proton pump), alpha polypeptide, 70kD, isoform 1"	VPP2, ATP6A1, ATP6V1A1		8463241	Standard	NM_001690		Approved	Vma1, VA68	uc003eao.3	P38606	OTTHUMG00000159295	ENST00000273398.3:c.1290+1G>A	3.37:g.113514787G>A						ATP6V1A_ENST00000538620.1_Splice_Site		NM_001690.3	NP_001681.2	P38606	VATA_HUMAN			11	1398	+								B2RBR8|B7Z1R5|D3DN75|Q53YD9|Q96DY6|Q9UHY3	Splice_Site	SNP	ENST00000273398.3	37		CCDS2976.1	.	.	.	.	.	.	.	.	.	.	G	26.3	4.729041	0.89390	.	.	ENSG00000114573	ENST00000545842;ENST00000273398;ENST00000538620	.	.	.	5.32	5.32	0.75619	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.9829	0.92761	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ATP6V1A	114997477	1.000000	0.71417	1.000000	0.80357	0.851000	0.48451	9.174000	0.94824	2.499000	0.84300	0.491000	0.48974	.		0.378	ATP6V1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354457.1	NM_001690	Intron	16	39	0	0	0	1	0	16	39					A	113514787	G	A	113514787	5	1	435	1	0	0	0	0	0	0	1	0	1177	1275	44	3	1329	3	ATP6V1A	3	113514787	Splice_Site	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	72489	113514787	84507643	1983	22908											
KIAA1407	57577	broad.mit.edu	37	chr3	113684058	113684058	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agtatctgattgctgatataGctcgtggtaccttccaggta	9	14	10	8	1	1	2	0	2	1	0	3	2	2	2	2	2	3	5	2	2	5	7			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:113684058G>A	ENST00000295878.3	-	17	2901	c.2755C>T	c.(2755-2757)Cta>Tta	p.L919L		NM_020817.1	NP_065868.1	Q8NCU4	K1407_HUMAN	KIAA1407	919										endometrium(9)|large_intestine(7)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1)	40						TGCTGATATAGCTCGTGGTAC	0.428																																						ENST00000295878.3																			0				endometrium(9)|large_intestine(7)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1)	40						c.(2755-2757)Cta>Tta		KIAA1407							133	136	135					3																	113684058		2203	4300	6503	SO:0001819	synonymous_variant	57577							g.chr3:113684058G>A	AF509494	CCDS2977.1	3q13.31	2005-01-10			ENSG00000163617	ENSG00000163617			29272	protein-coding gene	gene with protein product						10718198	Standard	NM_020817		Approved		uc003eax.3	Q8NCU4	OTTHUMG00000159337	ENST00000295878.3:c.2755C>T	3.37:g.113684058G>A							p.L919L	NM_020817.1	NP_065868.1	Q8NCU4	K1407_HUMAN			17	2901	-			919					B4DYL1|Q9P2E0	Silent	SNP	ENST00000295878.3	37	c.2755C>T	CCDS2977.1	.	.	.	.	.	.	.	.	.	.	G	8.151	0.787378	0.16258	.	.	ENSG00000184307	ENST00000496083	.	.	.	4.48	-8.96	0.00761	.	.	.	.	.	T	0.30230	0.0758	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.40572	-0.9556	5	0.62326	D	0.03	.	3.7919	0.08724	0.4145:0.3582:0.1368:0.0905	.	.	.	.	T	43	.	ENSP00000417579:A43T	A	+	1	0	ZDHHC23	115166748	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-1.095000	0.03356	-2.877000	0.00320	-0.312000	0.09012	GCT		0.428	KIAA1407-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354724.2	NM_020817		18	58	0	0	0	1	0	18	58					A	113684058	G	A	113684058	2	1	435	1	0	0	0	0	0	0	0	1	8229	962	34	3		3	KIAA1407	3	113684058	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	169271	113684058	84338372	1984	22909											
KIAA1407	57577	broad.mit.edu	37	chr3	113723532	113723532	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgctttggtttccttctgaGtccagaaagagaatttcggg	8	15	11	7	1	1	3	0	1	1	2	4	4	3	3	2	2	1	2	2	2	2	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:113723532G>A	ENST00000295878.3	-	11	2076	c.1930C>T	c.(1930-1932)Ctc>Ttc	p.L644F	KIAA1407_ENST00000545063.1_Missense_Mutation_p.L475F	NM_020817.1	NP_065868.1	Q8NCU4	K1407_HUMAN	KIAA1407	644										endometrium(9)|large_intestine(7)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1)	40						TTCCTTCTGAGTCCAGAAAGA	0.463																																						ENST00000295878.3																			0				endometrium(9)|large_intestine(7)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1)	40						c.(1930-1932)Ctc>Ttc		KIAA1407							206	193	197					3																	113723532		2203	4300	6503	SO:0001583	missense	57577							g.chr3:113723532G>A	AF509494	CCDS2977.1	3q13.31	2005-01-10			ENSG00000163617	ENSG00000163617			29272	protein-coding gene	gene with protein product						10718198	Standard	NM_020817		Approved		uc003eax.3	Q8NCU4	OTTHUMG00000159337	ENST00000295878.3:c.1930C>T	3.37:g.113723532G>A	ENSP00000295878:p.Leu644Phe					KIAA1407_ENST00000545063.1_Missense_Mutation_p.L475F	p.L644F	NM_020817.1	NP_065868.1	Q8NCU4	K1407_HUMAN			11	2076	-			644					B4DYL1|Q9P2E0	Missense_Mutation	SNP	ENST00000295878.3	37	c.1930C>T	CCDS2977.1	.	.	.	.	.	.	.	.	.	.	G	8.627	0.892677	0.17613	.	.	ENSG00000163617	ENST00000295878;ENST00000545063	T;T	0.44083	1.5;0.93	5.39	0.0396	0.14205	.	1.362120	0.03839	N	0.270286	T	0.23532	0.0569	N	0.08118	0	0.09310	N	1	B;B	0.17268	0.017;0.021	B;B	0.19946	0.006;0.027	T	0.25676	-1.0125	10	0.59425	D	0.04	.	3.3965	0.07308	0.4096:0.0:0.4118:0.1786	.	520;644	B4DIZ9;Q8NCU4	.;K1407_HUMAN	F	644;475	ENSP00000295878:L644F;ENSP00000446381:L475F	ENSP00000295878:L644F	L	-	1	0	KIAA1407	115206222	0.992000	0.36948	0.154000	0.22540	0.159000	0.22180	0.199000	0.17237	0.091000	0.17302	0.650000	0.86243	CTC		0.463	KIAA1407-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354724.2	NM_020817		4	108	0	0	0	1	0	4	108					A	113723532	G	A	113723532	3	1	435	1	0	0	0	0	1	0	0	0	8229	1029	36	3	908	3	KIAA1407	3	113723532	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	39474	113723532	84298898	1985	22910											
ZBTB20	26137	broad.mit.edu	37	chr3	114058118	114058118	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cttctctccccggtggaggcGcatgtgcacgttgagggagc	5	9	15	12	3	1	1	0	1	1	0	3	3	2	3	2	4	2	3	2	4	0	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:114058118G>A	ENST00000474710.1	-	5	2138	c.1960C>T	c.(1960-1962)Cgc>Tgc	p.R654C	ZBTB20_ENST00000471418.1_Missense_Mutation_p.R581C|ZBTB20_ENST00000481632.1_Missense_Mutation_p.R581C|ZBTB20_ENST00000393785.2_Missense_Mutation_p.R581C|ZBTB20_ENST00000357258.3_Missense_Mutation_p.R581C|ZBTB20_ENST00000464560.1_Missense_Mutation_p.R581C|ZBTB20_ENST00000462705.1_Missense_Mutation_p.R581C	NM_001164342.1	NP_001157814.1	Q9HC78	ZBT20_HUMAN	zinc finger and BTB domain containing 20	654						nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)			breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48				LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)		CGGTGGAGGCGCATGTGCACG	0.552																																					NSCLC(69;748 1344 9802 11203 30933)	ENST00000462705.1																			0				breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48						c.(1741-1743)Cgc>Tgc		zinc finger and BTB domain containing 20							201	177	185					3																	114058118		2203	4300	6503	SO:0001583	missense	26137				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr3:114058118G>A	AF139460	CCDS2981.1, CCDS54626.1	3q13.2	2013-01-08	2004-07-16	2004-07-16	ENSG00000181722	ENSG00000181722		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	13503	protein-coding gene	gene with protein product		606025	"zinc finger protein 288"	ZNF288		10965110, 11352661	Standard	XM_005247339		Approved	ODA-8S, DKFZp566F123, DPZF	uc003ebi.3	Q9HC78	OTTHUMG00000159366	ENST00000474710.1:c.1960C>T	3.37:g.114058118G>A	ENSP00000419153:p.Arg654Cys					ZBTB20_ENST00000357258.3_Missense_Mutation_p.R581C|ZBTB20_ENST00000464560.1_Missense_Mutation_p.R581C|ZBTB20_ENST00000481632.1_Missense_Mutation_p.R581C|ZBTB20_ENST00000471418.1_Missense_Mutation_p.R581C|ZBTB20_ENST00000474710.1_Missense_Mutation_p.R654C|ZBTB20_ENST00000393785.2_Missense_Mutation_p.R581C	p.R581C	NM_001164343.1	NP_001157815.1	Q9HC78	ZBT20_HUMAN		LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)	12	2562	-			654					Q63HP6|Q8N6R5|Q9Y410	Missense_Mutation	SNP	ENST00000474710.1	37	c.1741C>T	CCDS54626.1	.	.	.	.	.	.	.	.	.	.	G	18.92	3.725321	0.68959	.	.	ENSG00000181722	ENST00000462705;ENST00000393785;ENST00000481632;ENST00000471418;ENST00000474710;ENST00000357258;ENST00000464560	T;T;T;T;T;T;T	0.10192	2.9;2.9;2.9;2.9;2.9;2.9;2.9	5.97	5.97	0.96955	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.38612	0.1047	M	0.78916	2.43	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.05937	-1.0855	10	0.87932	D	0	.	20.4387	0.99107	0.0:0.0:1.0:0.0	.	654	Q9HC78	ZBT20_HUMAN	C	581;581;581;581;654;581;581	ENSP00000420324:R581C;ENSP00000377375:R581C;ENSP00000418092:R581C;ENSP00000419902:R581C;ENSP00000419153:R654C;ENSP00000349803:R581C;ENSP00000417307:R581C	ENSP00000349803:R581C	R	-	1	0	ZBTB20	115540808	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.869000	0.99810	2.836000	0.97738	0.655000	0.94253	CGC		0.552	ZBTB20-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000354951.1	NM_015642		50	76	0	0	0	1	0	50	76					A	114058118	G	A	114058118	3	1	435	1	0	0	0	0	1	0	0	0	17526	1087	38	1	269	1	ZBTB20	3	114058118	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	334586	114058118	83964312	1986	22911											
ZBTB20	26137	broad.mit.edu	37	chr3	114069597	114069597	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgctgacagtgataacagtgCtgtccatctccacttcattg	9	13	8	11	0	2	2	1	2	1	0	4	2	3	2	2	0	3	2	2	0	1	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:114069597C>A	ENST00000474710.1	-	4	1506	c.1328G>T	c.(1327-1329)aGc>aTc	p.S443I	ZBTB20_ENST00000471418.1_Missense_Mutation_p.S370I|ZBTB20_ENST00000481632.1_Missense_Mutation_p.S370I|ZBTB20-AS1_ENST00000475939.1_RNA|ZBTB20-AS1_ENST00000496219.1_RNA|ZBTB20_ENST00000393785.2_Missense_Mutation_p.S370I|ZBTB20_ENST00000357258.3_Missense_Mutation_p.S370I|ZBTB20_ENST00000464560.1_Missense_Mutation_p.S370I|ZBTB20_ENST00000462705.1_Missense_Mutation_p.S370I|ZBTB20-AS1_ENST00000467304.1_RNA	NM_001164342.1	NP_001157814.1	Q9HC78	ZBT20_HUMAN	zinc finger and BTB domain containing 20	443						nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)			breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48				LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)		GATAACAGTGCTGTCCATCTC	0.567																																					NSCLC(69;748 1344 9802 11203 30933)	ENST00000462705.1																			0				breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48						c.(1108-1110)aGc>aTc		zinc finger and BTB domain containing 20							97	84	88					3																	114069597		2203	4300	6503	SO:0001583	missense	26137				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr3:114069597C>A	AF139460	CCDS2981.1, CCDS54626.1	3q13.2	2013-01-08	2004-07-16	2004-07-16	ENSG00000181722	ENSG00000181722		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	13503	protein-coding gene	gene with protein product		606025	"zinc finger protein 288"	ZNF288		10965110, 11352661	Standard	XM_005247339		Approved	ODA-8S, DKFZp566F123, DPZF	uc003ebi.3	Q9HC78	OTTHUMG00000159366	ENST00000474710.1:c.1328G>T	3.37:g.114069597C>A	ENSP00000419153:p.Ser443Ile					ZBTB20_ENST00000357258.3_Missense_Mutation_p.S370I|ZBTB20_ENST00000464560.1_Missense_Mutation_p.S370I|ZBTB20_ENST00000481632.1_Missense_Mutation_p.S370I|ZBTB20_ENST00000471418.1_Missense_Mutation_p.S370I|ZBTB20_ENST00000474710.1_Missense_Mutation_p.S443I|ZBTB20_ENST00000393785.2_Missense_Mutation_p.S370I	p.S370I	NM_001164343.1	NP_001157815.1	Q9HC78	ZBT20_HUMAN		LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)	11	1930	-			443					Q63HP6|Q8N6R5|Q9Y410	Missense_Mutation	SNP	ENST00000474710.1	37	c.1109G>T	CCDS54626.1	.	.	.	.	.	.	.	.	.	.	C	11.36	1.614464	0.28712	.	.	ENSG00000181722	ENST00000462705;ENST00000393785;ENST00000481632;ENST00000471418;ENST00000474710;ENST00000357258;ENST00000464560	T;T;T;T;T;T;T	0.10477	2.89;2.89;2.89;2.89;2.87;2.89;2.89	5.41	-5.21	0.02815	.	0.463660	0.26411	N	0.024525	T	0.06826	0.0174	L	0.27053	0.805	0.27749	N	0.944235	B	0.28512	0.214	B	0.25884	0.064	T	0.08186	-1.0734	10	0.29301	T	0.29	.	16.6833	0.85298	0.0:0.7917:0.0:0.2083	.	443	Q9HC78	ZBT20_HUMAN	I	370;370;370;370;443;370;370	ENSP00000420324:S370I;ENSP00000377375:S370I;ENSP00000418092:S370I;ENSP00000419902:S370I;ENSP00000419153:S443I;ENSP00000349803:S370I;ENSP00000417307:S370I	ENSP00000349803:S370I	S	-	2	0	ZBTB20	115552287	0.991000	0.36638	0.952000	0.39060	0.340000	0.28889	0.245000	0.18142	-0.860000	0.04099	-2.253000	0.00282	AGC		0.567	ZBTB20-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000354951.1	NM_015642		31	57	1	0	5.77227e-19	1	6.37883e-19	31	57					A	114069597	C	A	114069597	3	1	435	1	0	0	0	0	1	0	0	0	17526	797	28	5	905	5	ZBTB20	3	114069597	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	11479	114069597	83952833	1987	22912											
B4GALT4	8702	broad.mit.edu	37	chr3	118931506	118931506	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atctgttctccagactcgtgAcacttggtgtaagagcttca	9	13	9	10	1	3	3	1	1	2	2	5	3	3	3	1	1	1	3	1	1	1	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:118931506A>G	ENST00000483209.1	-	8	1566	c.925T>C	c.(925-927)Tca>Cca	p.S309P	B4GALT4_ENST00000359213.3_Missense_Mutation_p.S309P|B4GALT4_ENST00000393765.2_Missense_Mutation_p.S309P|B4GALT4_ENST00000467604.1_3'UTR|B4GALT4_ENST00000471675.1_Intron			O60513	B4GT4_HUMAN	UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 4	309					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|membrane lipid metabolic process (GO:0006643)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	galactosyltransferase activity (GO:0008378)|metal ion binding (GO:0046872)|N-acetyllactosamine synthase activity (GO:0003945)			breast(2)|endometrium(1)|large_intestine(1)|lung(6)|skin(2)|stomach(2)	14				GBM - Glioblastoma multiforme(114;0.222)	N-Acetyl-D-glucosamine(DB00141)	CAGACTCGTGACACTTGGTGT	0.358																																						ENST00000483209.1																			0				breast(2)|endometrium(1)|large_intestine(1)|lung(6)|skin(2)|stomach(2)	14						c.(925-927)Tca>Cca		UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 4	N-Acetyl-D-glucosamine(DB00141)						97	92	94					3																	118931506		2203	4300	6503	SO:0001583	missense	8702				membrane lipid metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|integral to membrane	metal ion binding|N-acetyllactosamine synthase activity	g.chr3:118931506A>G	AF022367	CCDS2986.1	3q13.3	2013-02-19			ENSG00000121578	ENSG00000121578		"Beta 4-glycosyltransferases"	927	protein-coding gene	gene with protein product		604015				9597550	Standard	NM_003778		Approved	beta4Gal-T4	uc003eci.3	O60513	OTTHUMG00000159358	ENST00000483209.1:c.925T>C	3.37:g.118931506A>G	ENSP00000420161:p.Ser309Pro					B4GALT4_ENST00000393765.2_Missense_Mutation_p.S309P|B4GALT4_ENST00000467604.1_3'UTR|B4GALT4_ENST00000471675.1_Intron|B4GALT4_ENST00000359213.3_Missense_Mutation_p.S309P	p.S309P			O60513	B4GT4_HUMAN		GBM - Glioblastoma multiforme(114;0.222)	8	1566	-			309					Q68D68|Q9BSW3|Q9C078	Missense_Mutation	SNP	ENST00000483209.1	37	c.925T>C	CCDS2986.1	.	.	.	.	.	.	.	.	.	.	A	10.16	1.273820	0.23221	.	.	ENSG00000121578	ENST00000483209;ENST00000359213;ENST00000393765	T;T;T	0.34667	1.35;1.35;1.35	5.38	1.67	0.24075	.	0.340190	0.31636	N	0.007309	T	0.42494	0.1205	M	0.85373	2.75	0.40111	D	0.976486	B	0.14012	0.009	B	0.15052	0.012	T	0.45585	-0.9251	10	0.54805	T	0.06	-2.0368	12.76	0.57359	0.5398:0.4602:0.0:0.0	.	309	O60513	B4GT4_HUMAN	P	309	ENSP00000420161:S309P;ENSP00000352144:S309P;ENSP00000377360:S309P	ENSP00000352144:S309P	S	-	1	0	B4GALT4	120414196	0.956000	0.32656	0.948000	0.38648	0.774000	0.43823	1.952000	0.40343	0.129000	0.18514	-0.313000	0.08912	TCA		0.358	B4GALT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354925.2	NM_003778		10	16	0	0	0	1	0	10	16					G	118931506	A	G	118931506	3	3	435	1	0	0	0	0	1	0	0	0	1273	275	10	4	113	4	B4GALT4	3	118931506	Missense_Mutation	SNP	A	TCGA-XK-AAIW-01A-11D-A41K-08	4861909	118931506	79090924	1988	22913											
ARHGAP31	57514	broad.mit.edu	37	chr3	119133271	119133271	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agacagccctgagatctctaGcctctgtcagggagaggagg	10	7	14	10	0	3	3	1	1	2	3	4	6	3	4	2	3	2	0	2	3	1	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:119133271G>A	ENST00000264245.4	+	12	3027	c.2495G>A	c.(2494-2496)aGc>aAc	p.S832N		NM_020754.2	NP_065805.2	Q2M1Z3	RHG31_HUMAN	Rho GTPase activating protein 31	832					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell junction (GO:0030054)|cytosol (GO:0005829)|lamellipodium (GO:0030027)	GTPase activator activity (GO:0005096)			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(3)|large_intestine(11)|lung(29)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	67						GAGATCTCTAGCCTCTGTCAG	0.512																																					Pancreas(7;176 297 5394 51128 51241)	ENST00000264245.4																			0				breast(5)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(3)|large_intestine(11)|lung(29)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	67						c.(2494-2496)aGc>aAc		Rho GTPase activating protein 31							52	54	53					3																	119133271		1934	4134	6068	SO:0001583	missense	57514				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion|lamellipodium	GTPase activator activity	g.chr3:119133271G>A		CCDS43135.1	3q13.33	2011-06-29			ENSG00000031081	ENSG00000031081		"Rho GTPase activating proteins"	29216	protein-coding gene	gene with protein product		610911				9786927, 12819203, 16519628	Standard	NM_020754		Approved	CDGAP	uc003ecj.4	Q2M1Z3	OTTHUMG00000159362	ENST00000264245.4:c.2495G>A	3.37:g.119133271G>A	ENSP00000264245:p.Ser832Asn						p.S832N	NM_020754.2	NP_065805.2	Q2M1Z3	RHG31_HUMAN			12	3027	+			832					Q9ULL6	Missense_Mutation	SNP	ENST00000264245.4	37	c.2495G>A	CCDS43135.1	.	.	.	.	.	.	.	.	.	.	G	7.006	0.555766	0.13436	.	.	ENSG00000031081	ENST00000264245;ENST00000543280	T	0.07327	3.2	5.01	-1.47	0.08772	.	1.459060	0.03718	N	0.251434	T	0.04363	0.0120	N	0.12182	0.205	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.37731	-0.9693	10	0.21014	T	0.42	.	2.4236	0.04454	0.2057:0.1067:0.4695:0.2181	.	832	Q2M1Z3	RHG31_HUMAN	N	832	ENSP00000264245:S832N	ENSP00000264245:S832N	S	+	2	0	ARHGAP31	120615961	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.154000	0.16343	-0.894000	0.03925	-2.067000	0.00394	AGC		0.512	ARHGAP31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354942.2			22	24	0	0	0	1	0	22	24					A	119133271	G	A	119133271	3	1	435	1	0	0	0	0	1	0	0	0	880	971	34	3	2541	3	ARHGAP31	3	119133271	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	201765	119133271	78889159	1989	22914											
RABL3	285282	broad.mit.edu	37	chr3	120424911	120424911	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agcttccaatgaccaacgacGcaagttttgggaggacttct	11	10	10	10	2	1	1	0	1	1	0	2	4	2	3	2	2	2	3	2	2	3	4	rs144478835		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:120424911G>A	ENST00000273375.3	-	4	348	c.319C>T	c.(319-321)Cgt>Tgt	p.R107C	RABL3_ENST00000483733.1_Missense_Mutation_p.R107C|RABL3_ENST00000491398.1_5'UTR	NM_173825.3	NP_776186.2	Q5HYI8	RABL3_HUMAN	RAB, member of RAS oncogene family-like 3	107	Small GTPase-like.				small GTPase mediated signal transduction (GO:0007264)		GTP binding (GO:0005525)	p.R107C(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)	17				GBM - Glioblastoma multiforme(114;0.151)		GACCAACGACGCAAGTTTTGG	0.383													G|||	1	0.000199681	8e-04	0	5008	,	,		17923	0		0	False		,,,				2504	0					ENST00000273375.3																			1	Substitution - Missense(1)	p.R107C(1)	large_intestine(1)	breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)	17						c.(319-321)Cgt>Tgt		RAB, member of RAS oncogene family-like 3		G	CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	110	112	111		319	1.6	1	3	dbSNP_134	111	0,8600		0,0,4300	no	missense	RABL3	NM_173825.3	180	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	possibly-damaging	107/237	120424911	1,13005	2203	4300	6503	SO:0001583	missense	285282				small GTPase mediated signal transduction		GTP binding	g.chr3:120424911G>A	BC020832	CCDS3001.1	3q13.33	2008-02-05			ENSG00000144840	ENSG00000144840			18072	protein-coding gene	gene with protein product						12477932	Standard	NM_173825		Approved	MGC23920	uc003edx.3	Q5HYI8	OTTHUMG00000159668	ENST00000273375.3:c.319C>T	3.37:g.120424911G>A	ENSP00000273375:p.Arg107Cys					RABL3_ENST00000491398.1_5'UTR|RABL3_ENST00000483733.1_Missense_Mutation_p.R107C	p.R107C	NM_173825.3	NP_776186.2	Q5HYI8	RABL3_HUMAN		GBM - Glioblastoma multiforme(114;0.151)	4	348	-			107			Small GTPase-like.		Q8WUD3	Missense_Mutation	SNP	ENST00000273375.3	37	c.319C>T	CCDS3001.1	.	.	.	.	.	.	.	.	.	.	G	15.05	2.717904	0.48622	2.27E-4	0.0	ENSG00000144840	ENST00000273375;ENST00000483733	T;T	0.78126	-1.15;-1.15	5.61	1.59	0.23543	.	0.112676	0.64402	D	0.000007	T	0.68659	0.3025	M	0.65975	2.015	0.35236	D	0.777347	P	0.46395	0.877	B	0.38264	0.269	T	0.69480	-0.5134	10	0.51188	T	0.08	-0.2813	5.4813	0.16725	0.7274:0.0:0.1445:0.1281	.	107	Q5HYI8	RABL3_HUMAN	C	107	ENSP00000273375:R107C;ENSP00000419986:R107C	ENSP00000273375:R107C	R	-	1	0	RABL3	121907601	1.000000	0.71417	0.970000	0.41538	0.987000	0.75469	5.842000	0.69417	0.062000	0.16340	-0.290000	0.09829	CGT		0.383	RABL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356776.1	NM_173825		8	45	0	0	0	1	0	8	45					A	120424911	G	A	120424911	3	1	435	1	0	0	0	0	1	0	0	0	12972	1087	38	1	411	1	RABL3	3	120424911	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	1291640	120424911	77597519	1990	22915											
GTF2E1	2960	broad.mit.edu	37	chr3	120469788	120469788	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgggcttccttcaaatgtcCtgtctgtagtagtactttca	7	15	8	11	1	3	0	2	0	1	0	5	0	5	0	3	1	1	4	3	1	4	6			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:120469788C>A	ENST00000283875.5	+	2	482	c.389C>A	c.(388-390)cCt>cAt	p.P130H		NM_005513.2	NP_005504.2	P29083	T2EA_HUMAN	general transcription factor IIE, polypeptide 1, alpha 56kDa	130					gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	intermediate filament cytoskeleton (GO:0045111)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)			NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)	22				GBM - Glioblastoma multiforme(114;0.159)		TTCAAATGTCCTGTCTGTAGT	0.393																																						ENST00000283875.5																			0				NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)	22						c.(388-390)cCt>cAt		general transcription factor IIE, polypeptide 1, alpha 56kDa							71	73	72					3																	120469788		2203	4299	6502	SO:0001583	missense	2960				interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	nucleoplasm	protein binding|zinc ion binding	g.chr3:120469788C>A	S67859	CCDS3002.1	3q21-q24	2010-03-23	2002-08-29		ENSG00000153767	ENSG00000153767		"General transcription factors"	4650	protein-coding gene	gene with protein product		189962	"general transcription factor IIE, polypeptide 1 (alpha subunit, 56kD)"			1454543, 8162052	Standard	NM_005513		Approved	TFIIE-A, FE	uc003edz.4	P29083	OTTHUMG00000159667	ENST00000283875.5:c.389C>A	3.37:g.120469788C>A	ENSP00000283875:p.Pro130His						p.P130H	NM_005513.2	NP_005504.2	P29083	T2EA_HUMAN		GBM - Glioblastoma multiforme(114;0.159)	2	482	+			130					Q16103	Missense_Mutation	SNP	ENST00000283875.5	37	c.389C>A	CCDS3002.1	.	.	.	.	.	.	.	.	.	.	C	23.1	4.372274	0.82573	.	.	ENSG00000153767	ENST00000283875	T	0.67345	-0.26	5.95	5.08	0.68730	Zinc finger, TFIIB-type (1);Zinc finger, RING/FYVE/PHD-type (1);	0.000000	0.85682	D	0.000000	T	0.81805	0.4900	M	0.80422	2.495	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79108	0.992;0.992	D	0.83524	0.0087	9	.	.	.	-15.5731	14.5652	0.68171	0.0:0.9303:0.0:0.0697	.	130;130	P29083;Q53F88	T2EA_HUMAN;.	H	130	ENSP00000283875:P130H	.	P	+	2	0	GTF2E1	121952478	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.097000	0.71452	1.542000	0.49330	-0.123000	0.14984	CCT		0.393	GTF2E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356770.1	NM_005513		16	37	1	0	3.41278e-10	1	3.64137e-10	16	37					A	120469788	C	A	120469788	3	1	435	1	0	0	0	0	1	0	0	0	6856	681	24	5	391	5	GTF2E1	3	120469788	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	44877	120469788	77552642	1991	22916											
STXBP5L	9515	broad.mit.edu	37	chr3	120871393	120871393	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctaaaagagcagaactgagaGtttattatgatgaggtaagt	16	11	11	3	0	0	5	0	3	0	3	0	6	0	5	0	1	2	3	0	1	6	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:120871393G>T	ENST00000273666.6	+	8	1010	c.739G>T	c.(739-741)Gtt>Ttt	p.V247F	STXBP5L_ENST00000492541.1_Missense_Mutation_p.V247F|STXBP5L_ENST00000471454.1_Missense_Mutation_p.V247F|STXBP5L_ENST00000497029.1_Missense_Mutation_p.V247F|STXBP5L_ENST00000472879.1_Missense_Mutation_p.V247F	NM_014980.2	NP_055795.1	Q9Y2K9	STB5L_HUMAN	syntaxin binding protein 5-like	247					exocytosis (GO:0006887)|glucose homeostasis (GO:0042593)|negative regulation of insulin secretion (GO:0046676)|positive regulation of protein secretion (GO:0050714)|protein transport (GO:0015031)|regulation of exocytosis (GO:0017157)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				GBM - Glioblastoma multiforme(114;0.0694)		AGAACTGAGAGTTTATTATGA	0.338																																						ENST00000273666.6																			0				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68						c.(739-741)Gtt>Ttt		syntaxin binding protein 5-like							119	118	119					3																	120871393		1849	4096	5945	SO:0001583	missense	9515				exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane		g.chr3:120871393G>T	AB023223	CCDS43137.1	3q13.33-q21.1	2013-01-10			ENSG00000145087	ENSG00000145087		"WD repeat domain containing"	30757	protein-coding gene	gene with protein product		609381				10231032, 14767561	Standard	NM_014980		Approved	KIAA1006, LLGL4	uc003eec.4	Q9Y2K9	OTTHUMG00000159426	ENST00000273666.6:c.739G>T	3.37:g.120871393G>T	ENSP00000273666:p.Val247Phe					STXBP5L_ENST00000471454.1_Missense_Mutation_p.V247F|STXBP5L_ENST00000492541.1_Missense_Mutation_p.V247F|STXBP5L_ENST00000497029.1_Missense_Mutation_p.V247F|STXBP5L_ENST00000472879.1_Missense_Mutation_p.V247F	p.V247F	NM_014980.2	NP_055795.1	Q9Y2K9	STB5L_HUMAN		GBM - Glioblastoma multiforme(114;0.0694)	8	1010	+			247					Q4G1B4|Q6PIC3	Missense_Mutation	SNP	ENST00000273666.6	37	c.739G>T	CCDS43137.1	.	.	.	.	.	.	.	.	.	.	G	11.53	1.667643	0.29604	.	.	ENSG00000145087	ENST00000273666;ENST00000471454;ENST00000472879;ENST00000497029;ENST00000492541;ENST00000471262	T;T;T;T;T;T	0.52526	0.66;1.69;0.66;0.66;1.69;1.69	5.38	4.49	0.54785	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.179846	0.48286	D	0.000181	T	0.09247	0.0228	N	0.00112	-2.095	0.32588	N	0.527534	B;P	0.45902	0.003;0.868	B;B	0.36885	0.002;0.235	T	0.39840	-0.9594	10	0.02654	T	1	-30.0388	10.0364	0.42131	0.0:0.1503:0.694:0.1558	.	247;247	E9PFI2;Q9Y2K9	.;STB5L_HUMAN	F	247	ENSP00000273666:V247F;ENSP00000420019:V247F;ENSP00000419627:V247F;ENSP00000420287:V247F;ENSP00000420666:V247F;ENSP00000420167:V247F	ENSP00000273666:V247F	V	+	1	0	STXBP5L	122354083	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.414000	0.44627	1.219000	0.43474	0.655000	0.94253	GTT		0.338	STXBP5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355256.3			10	22	1	0	3.07112e-06	1	3.18879e-06	10	22					T	120871393	G	T	120871393	3	4	435	1	0	0	0	0	1	0	0	0	15356	1029	36	5	765	5	STXBP5L	3	120871393	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	401605	120871393	77151037	1992	22917											
POLQ	10721	broad.mit.edu	37	chr3	121208979	121208979	+	Frame_Shift_Del	DEL	T	T	-																															cttttgttctttgatgttaaTtttttataagaactcttagt																										TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:121208979delT	ENST00000264233.5	-	16	2927	c.2799delA	c.(2797-2799)aaafs	p.K933fs		NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN	polymerase (DNA directed), theta	933					ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)	nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|damaged DNA binding (GO:0003684)|DNA-directed DNA polymerase activity (GO:0003887)|single-stranded DNA-dependent ATPase activity (GO:0043142)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		TTGATGTTAATTTTTTATAAG	0.308								DNA polymerases (catalytic subunits)																													Pancreas(152;907 1925 26081 31236 36904)	ENST00000264233.5																			0				NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120						c.(2797-2799)aafs	DNA polymerases (catalytic subunits)	polymerase (DNA directed), theta							45	44	44					3																	121208979		2203	4299	6502	SO:0001589	frameshift_variant	10721				DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity	g.chr3:121208979delT	AF052573	CCDS33833.1	3q13.3	2012-05-18			ENSG00000051341	ENSG00000051341	2.7.7.7	"DNA polymerases"	9186	protein-coding gene	gene with protein product		604419				10395804	Standard	NM_199420		Approved	POLH	uc003eee.4	O75417	OTTHUMG00000159396	ENST00000264233.5:c.2799delA	3.37:g.121208979delT	ENSP00000264233:p.Lys933fs						p.K933fs	NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN		GBM - Glioblastoma multiforme(114;0.0915)	16	2927	-			933					O95160|Q6VMB5	Frame_Shift_Del	DEL	ENST00000264233.5	37	c.2799delA	CCDS33833.1																																																																																				0.308	POLQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355097.1	NM_199420		24	34						24	34	---	---	---	---	-	121208979	T	-	121208979	7	5	435	1	0	1	0	1	0	0	0	0	12208	1490	52	0	5033	0	POLQ	3	121208979	Frame_Shift_Del	DEL	T	TCGA-XK-AAIW-01A-11D-A41K-08	337586	121208979	76813451	1993	22918											
FBXO40	51725	broad.mit.edu	37	chr3	121345607	121345607	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttaatgaagtcacctccatGtctgagcacctgaagtcctg	10	12	8	11	0	2	3	1	3	1	0	4	3	4	3	4	0	1	1	4	0	3	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:121345607G>A	ENST00000338040.4	+	4	2394	c.1980G>A	c.(1978-1980)atG>atA	p.M660I		NM_016298.3	NP_057382.2	Q9UH90	FBX40_HUMAN	F-box protein 40	660					muscle cell differentiation (GO:0042692)	cytoplasm (GO:0005737)	ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(11)|lung(19)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	46				GBM - Glioblastoma multiforme(114;0.189)		TCACCTCCATGTCTGAGCACC	0.463																																						ENST00000338040.4																			0				NS(1)|breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(11)|lung(19)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						c.(1978-1980)atG>atA		F-box protein 40							145	145	145					3																	121345607		2203	4300	6503	SO:0001583	missense	51725				muscle cell differentiation	centrosome|nucleus	ubiquitin-protein ligase activity|zinc ion binding	g.chr3:121345607G>A	AF204674	CCDS33835.1	3q21.1	2004-08-24			ENSG00000163833	ENSG00000163833		"F-boxes /  "other""	29816	protein-coding gene	gene with protein product		609107				10574462	Standard	NM_016298		Approved	KIAA1195, Fbx40	uc003eeg.2	Q9UH90	OTTHUMG00000159410	ENST00000338040.4:c.1980G>A	3.37:g.121345607G>A	ENSP00000337510:p.Met660Ile						p.M660I	NM_016298.3	NP_057382.2	Q9UH90	FBX40_HUMAN		GBM - Glioblastoma multiforme(114;0.189)	4	2394	+			660					B2RAX7|Q32M70|Q9ULM5	Missense_Mutation	SNP	ENST00000338040.4	37	c.1980G>A	CCDS33835.1	.	.	.	.	.	.	.	.	.	.	G	19.30	3.801793	0.70682	.	.	ENSG00000163833	ENST00000338040	T	0.32515	1.45	6.17	6.17	0.99709	F-box domain, Skp2-like (1);	0.117881	0.85682	D	0.000000	T	0.49236	0.1545	L	0.45352	1.415	0.45777	D	0.998663	D	0.67145	0.996	D	0.75484	0.986	T	0.12578	-1.0542	10	0.35671	T	0.21	-21.8586	18.3732	0.90420	0.0:0.0:1.0:0.0	.	660	Q9UH90	FBX40_HUMAN	I	660	ENSP00000337510:M660I	ENSP00000337510:M660I	M	+	3	0	FBXO40	122828297	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	7.874000	0.87199	2.941000	0.99782	0.655000	0.94253	ATG		0.463	FBXO40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355158.1	NM_016298		51	76	0	0	0	1	0	51	76					A	121345607	G	A	121345607	3	1	435	1	0	0	0	0	1	0	0	0	5749	1377	48	3	1990	3	FBXO40	3	121345607	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	136628	121345607	76676823	1994	22919											
GOLGB1	2804	broad.mit.edu	37	chr3	121409891	121409891	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tccctgttctttcaactgtgCcaattccttcagactggcat	7	15	6	13	0	3	1	2	0	1	1	5	1	5	1	3	1	2	2	3	1	2	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:121409891C>A	ENST00000340645.5	-	14	8430	c.8305G>T	c.(8305-8307)Gca>Tca	p.A2769S	GOLGB1_ENST00000393667.3_Missense_Mutation_p.A2774S	NM_001256487.1|NM_001256488.1|NM_004487.4	NP_001243416.1|NP_001243417.1|NP_004478.3	Q14789	GOGB1_HUMAN	golgin B1	2769					Golgi organization (GO:0007030)	cis-Golgi network (GO:0005801)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		TTCAACTGTGCCAATTCCTTC	0.408																																						ENST00000393667.3																			0				NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119						c.(8320-8322)Gca>Tca		golgin B1							150	136	141					3																	121409891		2203	4300	6503	SO:0001583	missense	2804				Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding	g.chr3:121409891C>A	X75304	CCDS3004.1, CCDS58847.1, CCDS74989.1	3q13	2010-02-12	2010-02-12	2007-07-27	ENSG00000173230	ENSG00000173230			4429	protein-coding gene	gene with protein product	"macrogolgin", "golgi integral membrane protein 1"	602500	"golgi autoantigen, golgin subfamily b, macrogolgin (with transmembrane signal), 1", "golgin B1, golgi integral membrane protein"			7691276, 15004235	Standard	NM_001256486		Approved	GCP, GCP372, giantin, GOLIM1	uc010hrc.4	Q14789	OTTHUMG00000159411	ENST00000340645.5:c.8305G>T	3.37:g.121409891C>A	ENSP00000341848:p.Ala2769Ser					GOLGB1_ENST00000340645.5_Missense_Mutation_p.A2769S	p.A2774S	NM_001256486.1	NP_001243415.1	Q14789	GOGB1_HUMAN		GBM - Glioblastoma multiforme(114;0.0989)	14	8430	-			2769					B2ZZ91|D3DN92|E7EP74|Q14398	Missense_Mutation	SNP	ENST00000340645.5	37	c.8320G>T	CCDS3004.1	.	.	.	.	.	.	.	.	.	.	C	2.866	-0.234974	0.05983	.	.	ENSG00000173230	ENST00000340645;ENST00000393667	T;T	0.14893	2.47;2.47	5.3	4.39	0.52855	.	0.207891	0.34200	N	0.004161	T	0.15478	0.0373	M	0.63428	1.95	0.32577	N	0.52905	P;B;B	0.40431	0.717;0.17;0.4	B;B;B	0.41271	0.352;0.117;0.173	T	0.02588	-1.1137	10	0.07482	T	0.82	.	6.8006	0.23748	0.1754:0.7365:0.0:0.0881	.	2774;2774;2769	E7EP74;B2ZZ91;Q14789	.;.;GOGB1_HUMAN	S	2769;2774	ENSP00000341848:A2769S;ENSP00000377275:A2774S	ENSP00000341848:A2769S	A	-	1	0	GOLGB1	122892581	0.515000	0.26210	0.999000	0.59377	0.048000	0.14542	0.220000	0.17660	2.756000	0.94617	0.655000	0.94253	GCA		0.408	GOLGB1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000355159.1	NM_004487		39	56	1	0	6.29468e-14	1	6.85409e-14	39	56					A	121409891	C	A	121409891	3	1	435	1	0	0	0	0	1	0	0	0	6565	739	26	5	1510	5	GOLGB1	3	121409891	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	64284	121409891	76612539	1995	22920											
GOLGB1	2804	broad.mit.edu	37	chr3	121415986	121415986	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgttacttgtgattaacttCtggataattgcttggttttc	7	20	9	5	0	1	1	0	1	1	0	2	2	1	2	0	2	3	3	0	2	3	9			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:121415986C>A	ENST00000340645.5	-	13	3494	c.3369G>T	c.(3367-3369)caG>caT	p.Q1123H	GOLGB1_ENST00000393667.3_Missense_Mutation_p.Q1128H	NM_001256487.1|NM_001256488.1|NM_004487.4	NP_001243416.1|NP_001243417.1|NP_004478.3	Q14789	GOGB1_HUMAN	golgin B1	1123					Golgi organization (GO:0007030)	cis-Golgi network (GO:0005801)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		TGATTAACTTCTGGATAATTG	0.418																																						ENST00000393667.3																			0				NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119						c.(3382-3384)caG>caT		golgin B1							203	178	187					3																	121415986		2203	4299	6502	SO:0001583	missense	2804				Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding	g.chr3:121415986C>A	X75304	CCDS3004.1, CCDS58847.1, CCDS74989.1	3q13	2010-02-12	2010-02-12	2007-07-27	ENSG00000173230	ENSG00000173230			4429	protein-coding gene	gene with protein product	"macrogolgin", "golgi integral membrane protein 1"	602500	"golgi autoantigen, golgin subfamily b, macrogolgin (with transmembrane signal), 1", "golgin B1, golgi integral membrane protein"			7691276, 15004235	Standard	NM_001256486		Approved	GCP, GCP372, giantin, GOLIM1	uc010hrc.4	Q14789	OTTHUMG00000159411	ENST00000340645.5:c.3369G>T	3.37:g.121415986C>A	ENSP00000341848:p.Gln1123His					GOLGB1_ENST00000340645.5_Missense_Mutation_p.Q1123H	p.Q1128H	NM_001256486.1	NP_001243415.1	Q14789	GOGB1_HUMAN		GBM - Glioblastoma multiforme(114;0.0989)	13	3494	-			1123					B2ZZ91|D3DN92|E7EP74|Q14398	Missense_Mutation	SNP	ENST00000340645.5	37	c.3384G>T	CCDS3004.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	3.654|3.654	-0.070943|-0.070943	0.07228|0.07228	.|.	.|.	ENSG00000173230|ENSG00000173230	ENST00000340645;ENST00000393667;ENST00000494517;ENST00000426235|ENST00000489400	T;T;T|.	0.25085|.	2.41;2.41;1.82|.	5.24|5.24	0.814|0.814	0.18756|0.18756	.|.	0.217169|.	0.32868|.	N|.	0.005545|.	T|T	0.42698|0.42698	0.1214|0.1214	L|L	0.34521|0.34521	1.04|1.04	0.39936|0.39936	D|D	0.974356|0.974356	B;B;B;B;B|.	0.15930|.	0.007;0.003;0.015;0.003;0.007|.	B;B;B;B;B|.	0.17433|.	0.011;0.006;0.018;0.006;0.01|.	T|T	0.19321|0.19321	-1.0309|-1.0309	10|5	0.51188|.	T|.	0.08|.	.|.	7.2701|7.2701	0.26252|0.26252	0.0:0.4978:0.0:0.5022|0.0:0.4978:0.0:0.5022	.|.	1048;1087;1128;1128;1123|.	F1T0J2;E7EU81;E7EP74;B2ZZ91;Q14789|.	.;.;.;.;GOGB1_HUMAN|.	H|I	1123;1128;1087;935|994	ENSP00000341848:Q1123H;ENSP00000377275:Q1128H;ENSP00000418231:Q1087H|.	ENSP00000341848:Q1123H|.	Q|R	-|-	3|2	2|0	GOLGB1|GOLGB1	122898676|122898676	0.339000|0.339000	0.24784|0.24784	1.000000|1.000000	0.80357|0.80357	0.650000|0.650000	0.38633|0.38633	-0.505000|-0.505000	0.06367|0.06367	0.268000|0.268000	0.21939|0.21939	0.561000|0.561000	0.74099|0.74099	CAG|AGA		0.418	GOLGB1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000355159.1	NM_004487		17	111	1	0	3.45872e-05	1	3.56558e-05	17	111					A	121415986	C	A	121415986	3	1	435	1	0	0	0	0	1	0	0	0	6565	912	32	5	6450	5	GOLGB1	3	121415986	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	6095	121415986	76606444	1996	22921											
SLC15A2	6565	broad.mit.edu	37	chr3	121630452	121630452	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atctctccttggtgtatgtgCttggccatgtgatcaagtcc	6	15	10	10	0	2	1	1	1	1	0	5	1	4	1	3	2	1	2	3	2	2	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:121630452C>T	ENST00000489711.1	+	4	755	c.367C>T	c.(367-369)Ctt>Ttt	p.L123F	SLC15A2_ENST00000295605.2_Intron	NM_021082.3	NP_066568.3	Q16348	S15A2_HUMAN	solute carrier family 15 (oligopeptide transporter), member 2	123					drug transport (GO:0015893)|ion transport (GO:0006811)|protein transport (GO:0015031)|proton transport (GO:0015992)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	antibiotic transporter activity (GO:0042895)|dipeptide transporter activity (GO:0042936)|high-affinity oligopeptide transporter activity (GO:0015334)|peptide:proton symporter activity (GO:0015333)			NS(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(17)|skin(6)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(114;0.0967)	Aminolevulinic acid(DB00855)|Amoxicillin(DB01060)|Ampicillin(DB00415)|Azidocillin(DB08795)|Benazepril(DB00542)|Benzylpenicillin(DB01053)|Cefaclor(DB00833)|Cefadroxil(DB01140)|Cefalotin(DB00456)|Cefdinir(DB00535)|Cefepime(DB01413)|Cefixime(DB00671)|Cefmetazole(DB00274)|Cefotaxime(DB00493)|Cefradine(DB01333)|Ceftazidime(DB00438)|Ceftibuten(DB01415)|Ceftriaxone(DB01212)|Cefuroxime(DB01112)|Cephalexin(DB00567)|Chlorpropamide(DB00672)|Cilazapril(DB01340)|Cloxacillin(DB01147)|Cyclacillin(DB01000)|Dicloxacillin(DB00485)|Fosinopril(DB00492)|Glyburide(DB01016)|Moexipril(DB00691)|Nateglinide(DB00731)|Oxacillin(DB00713)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Spirapril(DB01348)|Tolbutamide(DB01124)|Trandolapril(DB00519)|Tranexamic Acid(DB00302)|Valaciclovir(DB00577)|Valganciclovir(DB01610)	GGTGTATGTGCTTGGCCATGT	0.413																																						ENST00000489711.1																			0				NS(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(17)|skin(6)|upper_aerodigestive_tract(2)	36						c.(367-369)Ctt>Ttt		solute carrier family 15 (oligopeptide transporter), member 2	Cefadroxil(DB01140)						207	166	180					3																	121630452		2203	4300	6503	SO:0001583	missense	6565				protein transport	integral to plasma membrane	peptide:hydrogen symporter activity|protein binding	g.chr3:121630452C>T	BC044572	CCDS3007.1, CCDS54631.1	3q21.1	2013-07-18	2013-07-18		ENSG00000163406	ENSG00000163406		"Solute carriers"	10921	protein-coding gene	gene with protein product		602339	"solute carrier family 15 (H+/peptide transporter), member 2"			7756356	Standard	NM_021082		Approved	PEPT2	uc003eep.2	Q16348	OTTHUMG00000159423	ENST00000489711.1:c.367C>T	3.37:g.121630452C>T	ENSP00000417085:p.Leu123Phe					SLC15A2_ENST00000295605.2_Intron	p.L123F	NM_021082.3	NP_066568.3	Q16348	S15A2_HUMAN		GBM - Glioblastoma multiforme(114;0.0967)	4	755	+			123					A8K1A5|B4E2A7	Missense_Mutation	SNP	ENST00000489711.1	37	c.367C>T	CCDS3007.1	.	.	.	.	.	.	.	.	.	.	C	14.41	2.526395	0.44969	.	.	ENSG00000163406	ENST00000489711;ENST00000469013	T;T	0.05855	3.38;3.38	5.31	4.43	0.53597	Major facilitator superfamily domain, general substrate transporter (1);PTR2 family proton/oligopeptide symporter, conserved site (1);	0.353130	0.30428	N	0.009648	T	0.09379	0.0231	L	0.45698	1.435	0.80722	D	1	B	0.32800	0.385	B	0.43194	0.411	T	0.17018	-1.0383	10	0.41790	T	0.15	-13.499	6.6567	0.22990	0.1766:0.7348:0.0:0.0886	.	123	Q16348	S15A2_HUMAN	F	123;61	ENSP00000417085:L123F;ENSP00000418704:L61F	ENSP00000418704:L61F	L	+	1	0	SLC15A2	123113142	0.996000	0.38824	1.000000	0.80357	0.996000	0.88848	2.175000	0.42491	1.469000	0.48083	0.655000	0.94253	CTT		0.413	SLC15A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355239.1	NM_021082		5	26	0	0	0	1	0	5	26					T	121630452	C	T	121630452	3	4	435	1	0	0	0	0	1	0	0	0	14399	797	28	3	381	3	SLC15A2	3	121630452	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	214466	121630452	76391978	1997	22922											
CD86	942	broad.mit.edu	37	chr3	121822507	121822507	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgaatgaggtatacttaggCaaagagaaatttgacagtgt	15	11	11	4	0	0	4	0	3	0	1	0	5	0	4	0	2	1	2	0	2	6	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:121822507C>T	ENST00000330540.2	+	3	329	c.213C>T	c.(211-213)ggC>ggT	p.G71G	CD86_ENST00000493101.1_Intron|CD86_ENST00000264468.5_Intron|CD86_ENST00000393627.2_Silent_p.G65G|CD86_ENST00000469710.1_5'UTR	NM_175862.4	NP_787058	P42081	CD86_HUMAN	CD86 molecule	71	Ig-like V-type.				aging (GO:0007568)|B cell activation (GO:0042113)|cell-cell signaling (GO:0007267)|cellular response to cytokine stimulus (GO:0071345)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to metal ion (GO:0071248)|defense response to virus (GO:0051607)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|immune response (GO:0006955)|innate immune response (GO:0045087)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of T cell anergy (GO:0002668)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of cell proliferation (GO:0008284)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of interleukin-4 biosynthetic process (GO:0045404)|positive regulation of lymphotoxin A biosynthetic process (GO:0043017)|positive regulation of T-helper 2 cell differentiation (GO:0045630)|positive regulation of transcription, DNA-templated (GO:0045893)|response to drug (GO:0042493)|response to interferon-gamma (GO:0034341)|response to yeast (GO:0001878)|T cell activation (GO:0042110)|T cell costimulation (GO:0031295)|T cell proliferation involved in immune response (GO:0002309)|toll-like receptor signaling pathway (GO:0002224)|viral process (GO:0016032)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	coreceptor activity (GO:0015026)|receptor activity (GO:0004872)			breast(2)|endometrium(1)|kidney(1)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(3)	23				GBM - Glioblastoma multiforme(114;0.156)	Abatacept(DB01281)|Antithymocyte globulin(DB00098)|Belatacept(DB06681)	TATACTTAGGCAAAGAGAAAT	0.428																																					GBM(67;1379 1389 36064 39806)	ENST00000330540.2																			0				breast(2)|endometrium(1)|kidney(1)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(3)	23						c.(211-213)ggC>ggT		CD86 molecule	Abatacept(DB01281)						142	142	142					3																	121822507		2203	4300	6503	SO:0001819	synonymous_variant	942				interspecies interaction between organisms|positive regulation of cell proliferation|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-4 biosynthetic process|positive regulation of lymphotoxin A biosynthetic process|positive regulation of T-helper 2 cell differentiation|positive regulation of transcription, DNA-dependent|T cell costimulation		coreceptor activity|protein binding	g.chr3:121822507C>T		CCDS3009.1, CCDS43138.1, CCDS56272.1, CCDS56273.1, CCDS74991.1	3q21	2013-01-29	2006-03-28		ENSG00000114013	ENSG00000114013		"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	1705	protein-coding gene	gene with protein product	"B-lymphocyte antigen B7-2"	601020	"CD86 antigen (CD28 antigen ligand 2, B7-2 antigen)"	CD28LG2		7513726	Standard	NM_006889		Approved	B7.2, B7-2	uc003eet.3	P42081	OTTHUMG00000159482	ENST00000330540.2:c.213C>T	3.37:g.121822507C>T						CD86_ENST00000393627.2_Silent_p.G65G|CD86_ENST00000264468.5_Intron|CD86_ENST00000469710.1_5'UTR|CD86_ENST00000493101.1_Intron	p.G71G	NM_175862.4	NP_787058.4	P42081	CD86_HUMAN		GBM - Glioblastoma multiforme(114;0.156)	3	329	+			71			Ig-like V-type.		A0N0P0|B7Z2F3|B7Z702|E7ETN5|E9PC27|Q13655|Q6FHB1|Q6GTS4|Q7M4L5	Silent	SNP	ENST00000330540.2	37	c.213C>T	CCDS3009.1	.	.	.	.	.	.	.	.	.	.	C	2.638	-0.284893	0.05605	.	.	ENSG00000114013	ENST00000478741	.	.	.	5.54	0.0312	0.14170	.	.	.	.	.	.	.	.	.	.	.	0.40055	D	0.975829	.	.	.	.	.	.	.	.	.	.	.	.	.	-21.6932	2.981	0.05953	0.3068:0.3431:0.2666:0.0835	.	.	.	.	X	67	.	.	Q	+	1	0	CD86	123305197	0.142000	0.22610	0.178000	0.23040	0.390000	0.30446	0.054000	0.14205	0.118000	0.18165	-0.152000	0.13540	CAA		0.428	CD86-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000355671.1	NM_006889		44	80	0	0	0	1	0	44	80					T	121822507	C	T	121822507	2	4	435	1	0	0	0	0	0	0	0	1	3043	697	25	3		3	CD86	3	121822507	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	192055	121822507	76199923	1998	22923											
CD86	942	broad.mit.edu	37	chr3	121828160	121828160	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccacattccttggattacagCtgtacttccaacagttatta	11	14	5	11	0	0	0	0	0	0	0	2	1	2	1	3	1	4	3	3	1	5	7			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:121828160C>T	ENST00000330540.2	+	5	868	c.752C>T	c.(751-753)gCt>gTt	p.A251V	CD86_ENST00000493101.1_Missense_Mutation_p.A139V|CD86_ENST00000264468.5_Missense_Mutation_p.A38V|CD86_ENST00000393627.2_Missense_Mutation_p.A245V|CD86_ENST00000469710.1_Missense_Mutation_p.A169V	NM_175862.4	NP_787058	P42081	CD86_HUMAN	CD86 molecule	251					aging (GO:0007568)|B cell activation (GO:0042113)|cell-cell signaling (GO:0007267)|cellular response to cytokine stimulus (GO:0071345)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to metal ion (GO:0071248)|defense response to virus (GO:0051607)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|immune response (GO:0006955)|innate immune response (GO:0045087)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of T cell anergy (GO:0002668)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of cell proliferation (GO:0008284)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of interleukin-4 biosynthetic process (GO:0045404)|positive regulation of lymphotoxin A biosynthetic process (GO:0043017)|positive regulation of T-helper 2 cell differentiation (GO:0045630)|positive regulation of transcription, DNA-templated (GO:0045893)|response to drug (GO:0042493)|response to interferon-gamma (GO:0034341)|response to yeast (GO:0001878)|T cell activation (GO:0042110)|T cell costimulation (GO:0031295)|T cell proliferation involved in immune response (GO:0002309)|toll-like receptor signaling pathway (GO:0002224)|viral process (GO:0016032)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	coreceptor activity (GO:0015026)|receptor activity (GO:0004872)			breast(2)|endometrium(1)|kidney(1)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(3)	23				GBM - Glioblastoma multiforme(114;0.156)	Abatacept(DB01281)|Antithymocyte globulin(DB00098)|Belatacept(DB06681)	TGGATTACAGCTGTACTTCCA	0.423																																					GBM(67;1379 1389 36064 39806)	ENST00000330540.2																			0				breast(2)|endometrium(1)|kidney(1)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(3)	23						c.(751-753)gCt>gTt		CD86 molecule	Abatacept(DB01281)						129	119	123					3																	121828160		2203	4300	6503	SO:0001583	missense	942				interspecies interaction between organisms|positive regulation of cell proliferation|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-4 biosynthetic process|positive regulation of lymphotoxin A biosynthetic process|positive regulation of T-helper 2 cell differentiation|positive regulation of transcription, DNA-dependent|T cell costimulation		coreceptor activity|protein binding	g.chr3:121828160C>T		CCDS3009.1, CCDS43138.1, CCDS56272.1, CCDS56273.1, CCDS74991.1	3q21	2013-01-29	2006-03-28		ENSG00000114013	ENSG00000114013		"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	1705	protein-coding gene	gene with protein product	"B-lymphocyte antigen B7-2"	601020	"CD86 antigen (CD28 antigen ligand 2, B7-2 antigen)"	CD28LG2		7513726	Standard	NM_006889		Approved	B7.2, B7-2	uc003eet.3	P42081	OTTHUMG00000159482	ENST00000330540.2:c.752C>T	3.37:g.121828160C>T	ENSP00000332049:p.Ala251Val					CD86_ENST00000393627.2_Missense_Mutation_p.A245V|CD86_ENST00000264468.5_Missense_Mutation_p.A38V|CD86_ENST00000469710.1_Missense_Mutation_p.A169V|CD86_ENST00000493101.1_Missense_Mutation_p.A139V	p.A251V	NM_175862.4	NP_787058.4	P42081	CD86_HUMAN		GBM - Glioblastoma multiforme(114;0.156)	5	868	+			251					A0N0P0|B7Z2F3|B7Z702|E7ETN5|E9PC27|Q13655|Q6FHB1|Q6GTS4|Q7M4L5	Missense_Mutation	SNP	ENST00000330540.2	37	c.752C>T	CCDS3009.1	.	.	.	.	.	.	.	.	.	.	C	15.26	2.781078	0.49891	.	.	ENSG00000114013	ENST00000469710;ENST00000493101;ENST00000330540;ENST00000264468;ENST00000393627	T;T;T;T;T	0.39592	3.32;2.5;4.45;1.07;4.46	4.59	-0.289	0.12851	.	1.544040	0.03787	N	0.262288	T	0.43255	0.1239	L	0.54323	1.7	0.09310	N	1	B;P	0.50528	0.408;0.936	B;P	0.47573	0.111;0.55	T	0.29518	-1.0009	10	0.44086	T	0.13	0.0251	4.4864	0.11792	0.0:0.4886:0.156:0.3554	.	139;251	E9PC27;P42081	.;CD86_HUMAN	V	169;139;251;38;245	ENSP00000418988:A169V;ENSP00000420230:A139V;ENSP00000332049:A251V;ENSP00000264468:A38V;ENSP00000377248:A245V	ENSP00000264468:A38V	A	+	2	0	CD86	123310850	0.000000	0.05858	0.001000	0.08648	0.047000	0.14425	-1.564000	0.02152	-0.069000	0.12931	0.655000	0.94253	GCT		0.423	CD86-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000355671.1	NM_006889		17	67	0	0	0	1	0	17	67					T	121828160	C	T	121828160	3	4	435	1	0	0	0	0	1	0	0	0	3043	797	28	3	770	3	CD86	3	121828160	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	5653	121828160	76194270	1999	22924											
CASR	846	broad.mit.edu	37	chr3	122003464	122003464	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caaggtggctgcccgggccaCgctgcgccgcagcaacgtct	6	5	14	16	5	1	0	0	0	1	0	1	0	1	0	3	3	4	4	3	3	2	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:122003464C>T	ENST00000490131.1	+	7	3035	c.2663C>T	c.(2662-2664)aCg>aTg	p.T888M	AC068754.1_ENST00000408547.1_RNA|CASR_ENST00000296154.5_Missense_Mutation_p.T888M|CASR_ENST00000498619.1_Missense_Mutation_p.T898M	NM_000388.3	NP_000379	P41180	CASR_HUMAN	calcium-sensing receptor	888	Interaction with RNF19A.				anatomical structure morphogenesis (GO:0009653)|calcium ion import (GO:0070509)|cellular calcium ion homeostasis (GO:0006874)|chemosensory behavior (GO:0007635)|detection of calcium ion (GO:0005513)|G-protein coupled receptor signaling pathway (GO:0007186)|metabolic process (GO:0008152)|ossification (GO:0001503)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|phosphatidylinositol phospholipase C activity (GO:0004435)			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	GCCCGGGCCACGCTGCGCCGC	0.617																																						ENST00000498619.1																			0				NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84						c.(2692-2694)aCg>aTg		calcium-sensing receptor	Cinacalcet(DB01012)						31	32	32					3																	122003464		2203	4300	6503	SO:0001583	missense	846				anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity	g.chr3:122003464C>T	U20760	CCDS3010.1, CCDS54632.1	3q21.1	2012-08-29	2008-08-01		ENSG00000036828	ENSG00000036828		"GPCR / Class C : Calcium-sensing receptors"	1514	protein-coding gene	gene with protein product	"severe neonatal hyperparathyroidism"	601199	"hypocalciuric hypercalcemia 1"	HHC, HHC1		7677761	Standard	NM_000388		Approved	FHH, NSHPT, GPRC2A	uc003eew.4	P41180	OTTHUMG00000159491	ENST00000490131.1:c.2663C>T	3.37:g.122003464C>T	ENSP00000418685:p.Thr888Met					CASR_ENST00000296154.5_Missense_Mutation_p.T888M|CASR_ENST00000490131.1_Missense_Mutation_p.T888M	p.T898M	NM_001178065.1	NP_001171536.1	P41180	CASR_HUMAN		GBM - Glioblastoma multiforme(114;0.226)	7	3131	+			888		R -> Q (in IGE8).	Interaction with RNF19A.		Q13912|Q16108|Q16109|Q16110|Q16379|Q2M1T0|Q4PJ19	Missense_Mutation	SNP	ENST00000490131.1	37	c.2693C>T	CCDS3010.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.181443	0.78677	.	.	ENSG00000036828	ENST00000490131;ENST00000498619;ENST00000296154	D;D;D	0.89415	-2.51;-2.51;-2.51	5.89	5.89	0.94794	.	0.000000	0.85682	D	0.000000	D	0.91395	0.7285	L	0.34521	1.04	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.64506	0.926;0.926	D	0.91909	0.5538	10	0.72032	D	0.01	.	19.2448	0.93898	0.0:1.0:0.0:0.0	.	898;888	E7ENE0;P41180	.;CASR_HUMAN	M	888;898;888	ENSP00000418685:T888M;ENSP00000420194:T898M;ENSP00000296154:T888M	ENSP00000296154:T888M	T	+	2	0	CASR	123486154	1.000000	0.71417	0.987000	0.45799	0.949000	0.60115	5.825000	0.69286	2.793000	0.96121	0.561000	0.74099	ACG		0.617	CASR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355761.1	NM_000388		8	13	0	0	0	1	0	8	13					T	122003464	C	T	122003464	3	4	435	1	0	0	0	0	1	0	0	0	2682	536	19	1	2715	1	CASR	3	122003464	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	175304	122003464	76018966	2000	22925											
FAM162A	26355	broad.mit.edu	37	chr3	122126189	122126189	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agatcagctatctaatgattGccctgacggtggtaggatgc	10	11	12	8	1	2	3	1	2	1	1	2	4	2	4	1	3	3	2	1	3	3	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:122126189G>A	ENST00000477892.1	+	4	409	c.325G>A	c.(325-327)Gcc>Acc	p.A109T	FAM162A_ENST00000469967.1_Missense_Mutation_p.A109T|FAM162A_ENST00000232125.5_Missense_Mutation_p.A99T	NM_014367.3	NP_055182.3	Q96A26	F162A_HUMAN	family with sequence similarity 162, member A	109					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|cellular response to hypoxia (GO:0071456)|neuron apoptotic process (GO:0051402)|positive regulation of apoptotic process (GO:0043065)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|transformed cell apoptotic process (GO:0006927)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|nucleus (GO:0005634)				breast(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)	6						TCTAATGATTGCCCTGACGGT	0.418																																						ENST00000477892.1																			0				breast(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)	6						c.(325-327)Gcc>Acc		family with sequence similarity 162, member A							170	166	167					3																	122126189		1963	4164	6127	SO:0001583	missense	26355					integral to membrane		g.chr3:122126189G>A	AF191020	CCDS43139.1	3q21.1	2008-06-05	2008-06-05	2008-06-05	ENSG00000114023	ENSG00000114023			17865	protein-coding gene	gene with protein product		608017	"chromosome 3 open reading frame 28"	C3orf28		11085516	Standard	NM_014367		Approved	E2IG5	uc003eez.3	Q96A26	OTTHUMG00000159494	ENST00000477892.1:c.325G>A	3.37:g.122126189G>A	ENSP00000419088:p.Ala109Thr					FAM162A_ENST00000469967.1_Missense_Mutation_p.A109T|FAM162A_ENST00000232125.5_Missense_Mutation_p.A99T	p.A109T	NM_014367.3	NP_055182.3	Q96A26	F162A_HUMAN			4	409	+			109					Q9NRN6|Q9UJX8	Missense_Mutation	SNP	ENST00000477892.1	37	c.325G>A	CCDS43139.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.095228	0.76870	.	.	ENSG00000114023	ENST00000232125;ENST00000477892;ENST00000469967;ENST00000440333	T;T;T	0.34667	1.35;1.35;1.35	5.48	5.48	0.80851	.	0.268780	0.42548	D	0.000691	T	0.58850	0.2151	M	0.82056	2.57	0.41969	D	0.990746	D;D	0.65815	0.995;0.988	P;P	0.60609	0.877;0.783	T	0.62765	-0.6785	10	0.66056	D	0.02	.	14.7347	0.69406	0.0:0.0:1.0:0.0	.	109;109	E9PH05;Q96A26	.;F162A_HUMAN	T	99;109;109;108	ENSP00000232125:A99T;ENSP00000419088:A109T;ENSP00000419491:A109T	ENSP00000232125:A99T	A	+	1	0	FAM162A	123608879	0.997000	0.39634	0.997000	0.53966	0.263000	0.26337	6.467000	0.73547	2.861000	0.98227	0.650000	0.86243	GCC		0.418	FAM162A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355766.1	NM_014367		24	18	0	0	0	1	0	24	18					A	122126189	G	A	122126189	3	1	435	1	0	0	0	0	1	0	0	0	5474	1319	46	3	339	3	FAM162A	3	122126189	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	122725	122126189	75896241	2001	22926											
WDR5B	54554	broad.mit.edu	37	chr3	122133439	122133439	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	attttctaatgctgctgatgCgatgaggttttctgtaggat	8	17	11	5	1	2	2	0	2	2	0	2	4	2	3	0	2	3	4	0	2	2	6	rs199965922		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:122133439C>T	ENST00000330689.4	-	1	1443	c.937G>A	c.(937-939)Gca>Aca	p.A313T	RP11-299J3.8_ENST00000608756.1_RNA|RP11-299J3.8_ENST00000608015.1_RNA|RP11-299J3.8_ENST00000608346.1_RNA|RP11-299J3.8_ENST00000608465.1_RNA|RP11-299J3.8_ENST00000609469.1_RNA	NM_019069.3	NP_061942.2	Q86VZ2	WDR5B_HUMAN	WD repeat domain 5B	313										kidney(2)|large_intestine(4)|lung(2)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	13				GBM - Glioblastoma multiforme(114;0.0704)		GCTGCTGATGCGATGAGGTTT	0.383																																						ENST00000330689.4																			0				kidney(2)|large_intestine(4)|lung(2)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	13						c.(937-939)Gca>Aca		WD repeat domain 5B							139	127	131					3																	122133439		2203	4300	6503	SO:0001583	missense	54554							g.chr3:122133439C>T	AK002149	CCDS3012.1	3q21.1	2013-01-09			ENSG00000196981	ENSG00000196981		"WD repeat domain containing"	17826	protein-coding gene	gene with protein product						10369878	Standard	NM_019069		Approved	FLJ11287	uc003efa.1	Q86VZ2	OTTHUMG00000159489	ENST00000330689.4:c.937G>A	3.37:g.122133439C>T	ENSP00000330381:p.Ala313Thr						p.A313T	NM_019069.3	NP_061942.2	Q86VZ2	WDR5B_HUMAN		GBM - Glioblastoma multiforme(114;0.0704)	1	1443	-			313					B2RCM9|Q9NUL4	Missense_Mutation	SNP	ENST00000330689.4	37	c.937G>A	CCDS3012.1	.	.	.	.	.	.	.	.	.	.	C	24.1	4.498295	0.85069	.	.	ENSG00000196981	ENST00000330689	T	0.70282	-0.47	4.77	4.77	0.60923	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.83792	0.5331	M	0.92604	3.325	0.80722	D	1	D	0.67145	0.996	P	0.53649	0.731	D	0.88285	0.2939	10	0.87932	D	0	.	15.7027	0.77555	0.0:1.0:0.0:0.0	.	313	Q86VZ2	WDR5B_HUMAN	T	313	ENSP00000330381:A313T	ENSP00000330381:A313T	A	-	1	0	WDR5B	123616129	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	6.838000	0.75359	2.644000	0.89710	0.561000	0.74099	GCA		0.383	WDR5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355753.1	NM_019069		29	42	0	0	0	1	0	29	42					T	122133439	C	T	122133439	3	4	435	1	0	0	0	0	1	0	0	0	17306	768	27	1	59	1	WDR5B	3	122133439	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	7250	122133439	75888991	2002	22927											
PARP14	54625	broad.mit.edu	37	chr3	122433212	122433212	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgtcaagagttcagtttcCtctgttttgcaggagtgtga	8	15	12	6	0	3	2	2	1	1	1	4	4	4	3	1	1	1	4	1	1	1	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:122433212C>A	ENST00000474629.2	+	12	4202	c.3936C>A	c.(3934-3936)tcC>tcA	p.S1312S		NM_017554.2	NP_060024.2	Q460N5	PAR14_HUMAN	poly (ADP-ribose) polymerase family, member 14	1312	Macro 3. {ECO:0000255|PROSITE- ProRule:PRU00490}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	NAD+ ADP-ribosyltransferase activity (GO:0003950)			NS(2)|breast(5)|cervix(2)|endometrium(7)|kidney(5)|large_intestine(8)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	50				GBM - Glioblastoma multiforme(114;0.0531)		GTTCAGTTTCCTCTGTTTTGC	0.418																																						ENST00000474629.2																			0				NS(2)|breast(5)|cervix(2)|endometrium(7)|kidney(5)|large_intestine(8)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	50						c.(3934-3936)tcC>tcA		poly (ADP-ribose) polymerase family, member 14							67	63	64					3																	122433212		1866	4102	5968	SO:0001819	synonymous_variant	54625				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	NAD+ ADP-ribosyltransferase activity	g.chr3:122433212C>A	AB033094	CCDS46894.1	3q21	2010-02-16			ENSG00000173193	ENSG00000173193		"Poly (ADP-ribose) polymerases"	29232	protein-coding gene	gene with protein product		610028				15273990	Standard	NM_017554		Approved	KIAA1268, pART8	uc003efq.4	Q460N5	OTTHUMG00000159552	ENST00000474629.2:c.3936C>A	3.37:g.122433212C>A							p.S1312S	NM_017554.2	NP_060024.2	Q460N5	PAR14_HUMAN		GBM - Glioblastoma multiforme(114;0.0531)	12	4202	+			1312			Macro 3.		B4E2H0|Q460N4|Q8J027|Q9H9X9|Q9NV60|Q9ULF2	Silent	SNP	ENST00000474629.2	37	c.3936C>A	CCDS46894.1																																																																																				0.418	PARP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356173.2	NM_017554		10	13	1	0	3.86212e-05	1	3.97146e-05	10	13					A	122433212	C	A	122433212	2	1	435	1	0	0	0	0	0	0	0	1	11458	668	24	5		5	PARP14	3	122433212	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	299773	122433212	75589218	2003	22928											
DIRC2	84925	broad.mit.edu	37	chr3	122552256	122552256	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtgttgctgcagctagccagCggctgagttatcggagaagc	8	9	15	9	2	0	2	0	1	0	1	1	3	0	2	1	2	6	6	1	2	3	3	rs537988432		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:122552256C>T	ENST00000261038.5	+	4	1194	c.796C>T	c.(796-798)Cgg>Tgg	p.R266W		NM_032839.2	NP_116228.1	Q96SL1	DIRC2_HUMAN	disrupted in renal carcinoma 2	266					transport (GO:0006810)	integral component of membrane (GO:0016021)|lysosome (GO:0005764)				endometrium(2)|large_intestine(1)|lung(14)|prostate(1)	18				GBM - Glioblastoma multiforme(114;0.0614)		AGCTAGCCAGCGGCTGAGTTA	0.433																																						ENST00000261038.5																			0				endometrium(2)|large_intestine(1)|lung(14)|prostate(1)	18						c.(796-798)Cgg>Tgg		disrupted in renal carcinoma 2							100	105	103					3																	122552256		2203	4300	6503	SO:0001583	missense	84925				transport	integral to membrane		g.chr3:122552256C>T	AK027690	CCDS3018.1	3q21.1	2013-05-22			ENSG00000138463	ENSG00000138463		"Solute carriers"	16628	protein-coding gene	gene with protein product	"renal cell carcinoma 4", "disrupted in renal cancer protein 2"	602773				11912179	Standard	NM_032839		Approved	FLJ14784, RCC4	uc003efw.4	Q96SL1	OTTHUMG00000159553	ENST00000261038.5:c.796C>T	3.37:g.122552256C>T	ENSP00000261038:p.Arg266Trp						p.R266W	NM_032839.2	NP_116228.1	Q96SL1	DIRC2_HUMAN		GBM - Glioblastoma multiforme(114;0.0614)	4	1194	+			266					A8K561|Q8NBX9	Missense_Mutation	SNP	ENST00000261038.5	37	c.796C>T	CCDS3018.1	.	.	.	.	.	.	.	.	.	.	C	17.87	3.494843	0.64186	.	.	ENSG00000138463	ENST00000261038	T	0.60040	0.22	5.16	2.26	0.28386	Major facilitator superfamily domain, general substrate transporter (1);	0.106561	0.64402	D	0.000008	T	0.73385	0.3580	M	0.75615	2.305	0.53688	D	0.999979	D	0.89917	1.0	D	0.81914	0.995	T	0.75382	-0.3337	10	0.87932	D	0	.	13.3451	0.60569	0.4134:0.5866:0.0:0.0	.	266	Q96SL1	DIRC2_HUMAN	W	266	ENSP00000261038:R266W	ENSP00000261038:R266W	R	+	1	2	DIRC2	124034946	0.992000	0.36948	0.997000	0.53966	0.810000	0.45777	0.190000	0.17057	0.281000	0.22233	-0.188000	0.12872	CGG		0.433	DIRC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356180.2	NM_032839		45	70	0	0	0	1	0	45	70					T	122552256	C	T	122552256	3	4	435	1	0	0	0	0	1	0	0	0	4534	759	27	1	810	1	DIRC2	3	122552256	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	119044	122552256	75470174	2004	22929											
ADCY5	111	broad.mit.edu	37	chr3	123009994	123009994	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgatgatctcattgagtagcCgcaggcactcgacaccctcg	9	8	10	14	4	1	2	1	2	1	0	4	4	1	2	2	1	1	3	2	1	1	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:123009994C>T	ENST00000462833.1	-	18	4505	c.3293G>A	c.(3292-3294)cGg>cAg	p.R1098Q	ADCY5_ENST00000309879.5_Missense_Mutation_p.R748Q|ADCY5_ENST00000491190.1_Missense_Mutation_p.R756Q	NM_183357.2	NP_899200.1	O95622	ADCY5_HUMAN	adenylate cyclase 5	1098	Guanylate cyclase 2. {ECO:0000255|PROSITE-ProRule:PRU00099}.				activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenosine receptor signaling pathway (GO:0001973)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|locomotory behavior (GO:0007626)|neuromuscular process controlling balance (GO:0050885)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|primary cilium (GO:0072372)	adenylate cyclase activity (GO:0004016)|adenylate cyclase binding (GO:0008179)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)			breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(22)|ovary(5)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(114;0.0342)		ATTGAGTAGCCGCAGGCACTC	0.592																																						ENST00000462833.1																			0				breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(22)|ovary(5)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	60						c.(3292-3294)cGg>cAg		adenylate cyclase 5							65	53	57					3																	123009994		2203	4300	6503	SO:0001583	missense	111				activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding	g.chr3:123009994C>T	U65473	CCDS3022.1, CCDS56274.1	3q21.1	2013-02-04			ENSG00000173175	ENSG00000173175	4.6.1.1	"Adenylate cyclases"	236	protein-coding gene	gene with protein product		600293				10481931	Standard	NM_183357		Approved	AC5	uc003egh.2	O95622	OTTHUMG00000159517	ENST00000462833.1:c.3293G>A	3.37:g.123009994C>T	ENSP00000419361:p.Arg1098Gln					ADCY5_ENST00000309879.5_Missense_Mutation_p.R748Q|ADCY5_ENST00000491190.1_Missense_Mutation_p.R756Q	p.R1098Q	NM_183357.2	NP_899200.1	O95622	ADCY5_HUMAN		GBM - Glioblastoma multiforme(114;0.0342)	18	4505	-			1098			Guanylate cyclase 2.		B7Z8A6|Q7RTV7|Q8NFM3	Missense_Mutation	SNP	ENST00000462833.1	37	c.3293G>A	CCDS3022.1	.	.	.	.	.	.	.	.	.	.	C	35	5.418982	0.96092	.	.	ENSG00000173175	ENST00000462833;ENST00000491190;ENST00000309879	T;T;T	0.81415	-1.49;-1.49;-1.49	4.53	4.53	0.55603	Adenylyl cyclase class-3/4/guanylyl cyclase (5);	0.000000	0.64402	D	0.000003	D	0.88343	0.6411	M	0.64260	1.97	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.995;0.998	D	0.89797	0.3972	10	0.87932	D	0	.	17.4829	0.87679	0.0:1.0:0.0:0.0	.	1098;756	O95622;B3KWA8	ADCY5_HUMAN;.	Q	1098;756;748	ENSP00000419361:R1098Q;ENSP00000418537:R756Q;ENSP00000308685:R748Q	ENSP00000308685:R748Q	R	-	2	0	ADCY5	124492684	1.000000	0.71417	1.000000	0.80357	0.791000	0.44710	7.646000	0.83445	2.362000	0.80069	0.563000	0.77884	CGG		0.592	ADCY5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355889.4	XM_171048		7	7	0	0	0	1	0	7	7					T	123009994	C	T	123009994	3	4	435	1	0	0	0	0	1	0	0	0	297	652	23	2	508	2	ADCY5	3	123009994	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	457738	123009994	75012436	2005	22930											
ADCY5	111	broad.mit.edu	37	chr3	123010043	123010043	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctccagctcaacgtagaactCggagaagttggcgatggagg	11	7	14	9	3	1	2	1	0	0	2	3	5	2	3	1	4	3	3	1	4	4	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:123010043C>T	ENST00000462833.1	-	18	4456	c.3244G>A	c.(3244-3246)Gag>Aag	p.E1082K	ADCY5_ENST00000309879.5_Missense_Mutation_p.E732K|ADCY5_ENST00000491190.1_Missense_Mutation_p.E740K	NM_183357.2	NP_899200.1	O95622	ADCY5_HUMAN	adenylate cyclase 5	1082	Guanylate cyclase 2. {ECO:0000255|PROSITE-ProRule:PRU00099}.				activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenosine receptor signaling pathway (GO:0001973)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|locomotory behavior (GO:0007626)|neuromuscular process controlling balance (GO:0050885)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|primary cilium (GO:0072372)	adenylate cyclase activity (GO:0004016)|adenylate cyclase binding (GO:0008179)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)			breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(22)|ovary(5)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(114;0.0342)		ACGTAGAACTCGGAGAAGTTG	0.592																																						ENST00000462833.1																			0				breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(22)|ovary(5)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	60						c.(3244-3246)Gag>Aag		adenylate cyclase 5							93	74	81					3																	123010043		2203	4300	6503	SO:0001583	missense	111				activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding	g.chr3:123010043C>T	U65473	CCDS3022.1, CCDS56274.1	3q21.1	2013-02-04			ENSG00000173175	ENSG00000173175	4.6.1.1	"Adenylate cyclases"	236	protein-coding gene	gene with protein product		600293				10481931	Standard	NM_183357		Approved	AC5	uc003egh.2	O95622	OTTHUMG00000159517	ENST00000462833.1:c.3244G>A	3.37:g.123010043C>T	ENSP00000419361:p.Glu1082Lys					ADCY5_ENST00000309879.5_Missense_Mutation_p.E732K|ADCY5_ENST00000491190.1_Missense_Mutation_p.E740K	p.E1082K	NM_183357.2	NP_899200.1	O95622	ADCY5_HUMAN		GBM - Glioblastoma multiforme(114;0.0342)	18	4456	-			1082			Guanylate cyclase 2.		B7Z8A6|Q7RTV7|Q8NFM3	Missense_Mutation	SNP	ENST00000462833.1	37	c.3244G>A	CCDS3022.1	.	.	.	.	.	.	.	.	.	.	C	36	5.691163	0.96793	.	.	ENSG00000173175	ENST00000462833;ENST00000491190;ENST00000309879	T;T;T	0.29917	1.55;1.55;1.55	4.53	4.53	0.55603	Adenylyl cyclase class-3/4/guanylyl cyclase (5);	0.000000	0.85682	D	0.000000	T	0.41604	0.1166	N	0.25201	0.72	0.80722	D	1	D;D	0.89917	0.979;1.0	P;D	0.69307	0.786;0.963	T	0.39461	-0.9613	10	0.51188	T	0.08	.	17.4829	0.87679	0.0:1.0:0.0:0.0	.	1082;740	O95622;B3KWA8	ADCY5_HUMAN;.	K	1082;740;732	ENSP00000419361:E1082K;ENSP00000418537:E740K;ENSP00000308685:E732K	ENSP00000308685:E732K	E	-	1	0	ADCY5	124492733	1.000000	0.71417	0.998000	0.56505	0.904000	0.53231	7.646000	0.83445	2.362000	0.80069	0.563000	0.77884	GAG		0.592	ADCY5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355889.4	XM_171048		4	18	0	0	0	1	0	4	18					T	123010043	C	T	123010043	3	4	435	1	0	0	0	0	1	0	0	0	297	893	31	2	557	2	ADCY5	3	123010043	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	49	123010043	75012387	2006	22931											
MYLK	4638	broad.mit.edu	37	chr3	123426765	123426765	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaggggtcaccagctatggcGcaggagatgaggacactctg	11	6	15	9	1	2	2	1	1	1	1	2	4	2	3	1	5	1	2	1	5	2	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:123426765G>A	ENST00000475616.1	-	13	2225	c.2226C>T	c.(2224-2226)tgC>tgT	p.C742C	MYLK_ENST00000359169.1_Silent_p.C742C|MYLK_ENST00000360772.3_Silent_p.C742C|MYLK_ENST00000360304.3_Silent_p.C742C|MYLK_ENST00000346322.5_Silent_p.C673C			Q15746	MYLK_HUMAN	myosin light chain kinase	742	Ig-like C2-type 6.				actin filament organization (GO:0007015)|aorta smooth muscle tissue morphogenesis (GO:0060414)|bleb assembly (GO:0032060)|cellular hypotonic response (GO:0071476)|muscle contraction (GO:0006936)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cell migration (GO:0030335)|positive regulation of wound healing (GO:0090303)|protein phosphorylation (GO:0006468)|smooth muscle contraction (GO:0006939)|tonic smooth muscle contraction (GO:0014820)	cell-cell junction (GO:0005911)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|metal ion binding (GO:0046872)|myosin light chain kinase activity (GO:0004687)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		CAGCTATGGCGCAGGAGATGA	0.577																																						ENST00000360772.3																			0				NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113						c.(2224-2226)tgC>tgT		myosin light chain kinase							58	50	53					3																	123426765		2203	4299	6502	SO:0001819	synonymous_variant	4638				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity	g.chr3:123426765G>A	X85337	CCDS3023.1, CCDS43141.1, CCDS46896.1, CCDS46897.1, CCDS58849.1	3q21	2013-02-11	2008-01-23		ENSG00000065534	ENSG00000065534	2.7.11.18	"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	7590	protein-coding gene	gene with protein product	"smooth muscle myosin light chain kinase"	600922	"myosin, light polypeptide kinase"			8575746	Standard	NM_053026		Approved	MLCK, smMLCK, MYLK1, MLCK1	uc003ego.3	Q15746	OTTHUMG00000141304	ENST00000475616.1:c.2226C>T	3.37:g.123426765G>A						MYLK_ENST00000346322.5_Silent_p.C673C|MYLK_ENST00000360304.3_Silent_p.C742C|MYLK_ENST00000359169.1_Silent_p.C742C|MYLK_ENST00000475616.1_Silent_p.C742C	p.C742C			Q15746	MYLK_HUMAN		GBM - Glioblastoma multiforme(114;0.0736)	17	2604	-		Lung NSC(201;0.0496)	742			Ig-like C2-type 6.		B4DUE3|D3DN97|O95796|O95797|O95798|O95799|Q14844|Q16794|Q17S15|Q3ZCP9|Q5MY99|Q5MYA0|Q6P2N0|Q7Z4J0|Q9C0L5|Q9UBG5|Q9UBY6|Q9UIT9	Silent	SNP	ENST00000475616.1	37	c.2226C>T	CCDS46896.1																																																																																				0.577	MYLK-004	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356464.1	NM_053025		12	15	0	0	0	1	0	12	15					A	123426765	G	A	123426765	2	1	435	1	0	0	0	0	0	0	0	1	10056	1079	38	1		1	MYLK	3	123426765	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	416722	123426765	74595665	2007	22932											
KALRN	8997	broad.mit.edu	37	chr3	124017682	124017682	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	aaggagttattcctccagagCcacacggagatcggagtcag	12	7	12	10	2	1	2	1	0	0	2	4	5	3	4	3	3	1	1	3	3	2	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:124017682C>T	ENST00000240874.3	+	6	1165	c.1008C>T	c.(1006-1008)agC>agT	p.S336S	KALRN_ENST00000360013.3_Silent_p.S336S|KALRN_ENST00000460856.1_Silent_p.S336S	NM_003947.4	NP_003938.1	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	336					apoptotic signaling pathway (GO:0097190)|intracellular signal transduction (GO:0035556)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|protein phosphorylation (GO:0006468)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						TCCTCCAGAGCCACACGGAGA	0.512																																						ENST00000360013.3																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						c.(1006-1008)agC>agT		kalirin, RhoGEF kinase							223	203	210					3																	124017682		2203	4300	6503	SO:0001819	synonymous_variant	8997				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity	g.chr3:124017682C>T	U94190	CCDS3027.1, CCDS3028.1	3q21.2	2013-02-11	2005-03-11	2005-03-12	ENSG00000160145	ENSG00000160145		"Rho guanine nucleotide exchange factors", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	4814	protein-coding gene	gene with protein product	"serine/threonine kinase with Dbl and pleckstrin homology domains"	604605	"huntingtin-associated protein interacting protein (duo)"	HAPIP		9285789, 10023074	Standard	NM_001024660		Approved	duo, Hs.8004, TRAD, DUET, Kalirin, ARHGEF24	uc003ehd.3	O60229	OTTHUMG00000125545	ENST00000240874.3:c.1008C>T	3.37:g.124017682C>T						KALRN_ENST00000240874.3_Silent_p.S336S|KALRN_ENST00000460856.1_Silent_p.S336S	p.S336S	NM_001024660.3	NP_001019831.2	O60229	KALRN_HUMAN			6	1135	+			336					A8MSI4|C9JQ37|Q6ZN45|Q8TBQ5|Q9NSZ4|Q9Y2A5	Silent	SNP	ENST00000240874.3	37	c.1008C>T	CCDS3027.1	.	.	.	.	.	.	.	.	.	.	C	10.61	1.399331	0.25291	.	.	ENSG00000160145	ENST00000354186	.	.	.	5.55	4.61	0.57282	.	.	.	.	.	T	0.49081	0.1536	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.45101	-0.9284	4	.	.	.	.	4.6257	0.12477	0.0:0.7364:0.0:0.2636	.	.	.	.	V	314	.	.	A	+	2	0	KALRN	125500372	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.501000	0.35693	2.894000	0.99253	0.655000	0.94253	GCC		0.512	KALRN-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000258843.4	NM_003947		39	57	0	0	0	1	0	39	57					T	124017682	C	T	124017682	2	4	435	1	0	0	0	0	0	0	0	1	7975	738	26	3		3	KALRN	3	124017682	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	590917	124017682	74004748	2008	22933											
KALRN	8997	broad.mit.edu	37	chr3	124385389	124385389	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtcccggaccaaagagaggCgcgtgttcctcttcgagcag	9	7	13	12	4	1	1	0	0	1	1	4	4	3	2	3	2	1	2	3	2	1	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:124385389C>T	ENST00000291478.5	+	13	1508	c.1345C>T	c.(1345-1347)Cgc>Tgc	p.R449C	KALRN_ENST00000393496.1_Missense_Mutation_p.R487C|KALRN_ENST00000360013.3_Missense_Mutation_p.R2146C|KALRN_ENST00000428018.2_Missense_Mutation_p.R417C|KALRN_ENST00000459915.1_Missense_Mutation_p.R238C	NM_007064.3	NP_008995.2	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	2145					apoptotic signaling pathway (GO:0097190)|intracellular signal transduction (GO:0035556)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|protein phosphorylation (GO:0006468)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						CAAAGAGAGGCGCGTGTTCCT	0.547																																						ENST00000360013.3																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						c.(6436-6438)Cgc>Tgc		kalirin, RhoGEF kinase							96	85	89					3																	124385389		2203	4300	6503	SO:0001583	missense	8997				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity	g.chr3:124385389C>T	U94190	CCDS3027.1, CCDS3028.1	3q21.2	2013-02-11	2005-03-11	2005-03-12	ENSG00000160145	ENSG00000160145		"Rho guanine nucleotide exchange factors", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	4814	protein-coding gene	gene with protein product	"serine/threonine kinase with Dbl and pleckstrin homology domains"	604605	"huntingtin-associated protein interacting protein (duo)"	HAPIP		9285789, 10023074	Standard	NM_001024660		Approved	duo, Hs.8004, TRAD, DUET, Kalirin, ARHGEF24	uc003ehd.3	O60229	OTTHUMG00000125545	ENST00000291478.5:c.1345C>T	3.37:g.124385389C>T	ENSP00000291478:p.Arg449Cys					KALRN_ENST00000393496.1_Missense_Mutation_p.R487C|KALRN_ENST00000428018.2_Missense_Mutation_p.R417C|KALRN_ENST00000459915.1_Missense_Mutation_p.R238C|KALRN_ENST00000291478.4_Missense_Mutation_p.R449C	p.R2146C	NM_001024660.3	NP_001019831.2	O60229	KALRN_HUMAN			46	6563	+			2145			PH 2.		A8MSI4|C9JQ37|Q6ZN45|Q8TBQ5|Q9NSZ4|Q9Y2A5	Missense_Mutation	SNP	ENST00000291478.5	37	c.6436C>T	CCDS3028.1	.	.	.	.	.	.	.	.	.	.	C	19.96	3.923372	0.73213	.	.	ENSG00000160145	ENST00000360013;ENST00000393496;ENST00000291478;ENST00000428018;ENST00000459915	T;T;T;T;T	0.12984	2.63;2.63;2.63;2.63;2.63	5.15	5.15	0.70609	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	0.000000	0.85682	D	0.000000	T	0.44393	0.1291	M	0.90650	3.135	0.58432	D	0.999997	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.997;0.999;1.0;0.996	T	0.51084	-0.8750	10	0.87932	D	0	.	13.566	0.61819	0.193:0.807:0.0:0.0	.	238;449;487;2145	E7EUZ8;C9JQ37;O60229-5;O60229	.;.;.;KALRN_HUMAN	C	2146;487;449;417;238	ENSP00000353109:R2146C;ENSP00000377134:R487C;ENSP00000291478:R449C;ENSP00000402419:R417C;ENSP00000420318:R238C	ENSP00000291478:R449C	R	+	1	0	KALRN	125868079	0.883000	0.30277	0.999000	0.59377	0.993000	0.82548	1.698000	0.37794	2.687000	0.91594	0.563000	0.77884	CGC		0.547	KALRN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000246891.5	NM_003947		21	31	0	0	0	1	0	21	31					T	124385389	C	T	124385389	3	4	435	1	0	0	0	0	1	0	0	0	7975	768	27	1	6774	1	KALRN	3	124385389	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	367707	124385389	73637041	2009	22934											
UMPS	7372	broad.mit.edu	37	chr3	124456423	124456423	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tttcttttctaggaactaagCgtcttgtagaaggaactatt	11	16	8	6	1	3	1	0	0	3	1	3	3	3	3	0	2	3	1	0	2	7	9	rs145382799		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:124456423C>T	ENST00000232607.2	+	3	425	c.319C>T	c.(319-321)Cgt>Tgt	p.R107C	UMPS_ENST00000413078.2_5'UTR|UMPS_ENST00000536109.1_Missense_Mutation_p.R15C|UMPS_ENST00000498715.1_3'UTR|UMPS_ENST00000538242.1_5'UTR	NM_000373.3	NP_000364.1	P11172	UMPS_HUMAN	uridine monophosphate synthetase	107	OPRTase.				'de novo' pyrimidine nucleobase biosynthetic process (GO:0006207)|'de novo' UMP biosynthetic process (GO:0044205)|cellular response to drug (GO:0035690)|female pregnancy (GO:0007565)|lactation (GO:0007595)|nucleobase-containing small molecule metabolic process (GO:0055086)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside biosynthetic process (GO:0046134)|small molecule metabolic process (GO:0044281)|UMP biosynthetic process (GO:0006222)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	orotate phosphoribosyltransferase activity (GO:0004588)|orotidine-5'-phosphate decarboxylase activity (GO:0004590)			cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	16				GBM - Glioblastoma multiforme(114;0.146)	Fluorouracil(DB00544)	AGGAACTAAGCGTCTTGTAGA	0.343																																						ENST00000232607.2																			0				cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	16						c.(319-321)Cgt>Tgt		uridine monophosphate synthetase		C	CYS/ARG	0,4406		0,0,2203	80	85	83		319	3.8	0.8	3	dbSNP_134	83	1,8599	1.2+/-3.3	0,1,4299	no	missense	UMPS	NM_000373.3	180	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	107/481	124456423	1,13005	2203	4300	6503	SO:0001583	missense	7372				'de novo' pyrimidine base biosynthetic process|'de novo' UMP biosynthetic process|pyrimidine nucleoside biosynthetic process	cytosol|nucleus	orotate phosphoribosyltransferase activity|orotidine-5'-phosphate decarboxylase activity	g.chr3:124456423C>T		CCDS3029.1	3q13	2008-02-04	2008-02-04		ENSG00000114491	ENSG00000114491	2.4.2.10, 4.1.1.23		12563	protein-coding gene	gene with protein product	"orotate phosphoribosyl transferase and orotidine-5'-decarboxylase"	613891				2767686	Standard	NM_000373		Approved		uc003ehl.4	P11172	OTTHUMG00000159431	ENST00000232607.2:c.319C>T	3.37:g.124456423C>T	ENSP00000232607:p.Arg107Cys					UMPS_ENST00000413078.2_5'UTR|UMPS_ENST00000538242.1_5'UTR|UMPS_ENST00000536109.1_Missense_Mutation_p.R15C|UMPS_ENST00000498715.1_3'UTR	p.R107C	NM_000373.3	NP_000364.1	P11172	UMPS_HUMAN		GBM - Glioblastoma multiforme(114;0.146)	3	425	+			107			OPRTase.		B5LY68|B5LY72|O00758|O00759|O00760|Q16862|Q9H3Q2|Q9UG49	Missense_Mutation	SNP	ENST00000232607.2	37	c.319C>T	CCDS3029.1	.	.	.	.	.	.	.	.	.	.	C	14.44	2.535722	0.45176	0.0	1.16E-4	ENSG00000114491	ENST00000232607;ENST00000536109	T;T	0.72725	-0.68;-0.68	5.55	3.76	0.43208	Phosphoribosyltransferase (1);	0.201769	0.43919	N	0.000517	T	0.70605	0.3243	M	0.83223	2.63	0.80722	D	1	B	0.26845	0.161	B	0.26614	0.071	T	0.70479	-0.4860	10	0.87932	D	0	-1.471	9.0793	0.36542	0.1465:0.7804:0.0:0.073	.	107	P11172	UMPS_HUMAN	C	107;15	ENSP00000232607:R107C;ENSP00000443577:R15C	ENSP00000232607:R107C	R	+	1	0	UMPS	125939113	1.000000	0.71417	0.848000	0.33437	0.993000	0.82548	2.065000	0.41442	0.896000	0.36366	0.655000	0.94253	CGT		0.343	UMPS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355271.1	NM_000373		35	57	0	0	0	1	0	35	57					T	124456423	C	T	124456423	3	4	435	1	0	0	0	0	1	0	0	0	16978	768	27	1	329	1	UMPS	3	124456423	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	71034	124456423	73566007	2010	22935											
UMPS	7372	broad.mit.edu	37	chr3	124456654	124456654	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccaaaatgctggagattctcGagcagcagaaaaaagttgat	16	8	10	7	1	1	3	0	1	1	2	2	5	1	3	1	1	3	4	1	1	5	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:124456654G>A	ENST00000232607.2	+	3	656	c.550G>A	c.(550-552)Gag>Aag	p.E184K	UMPS_ENST00000413078.2_Missense_Mutation_p.E6K|UMPS_ENST00000536109.1_Missense_Mutation_p.E92K|UMPS_ENST00000498715.1_3'UTR|UMPS_ENST00000538242.1_Missense_Mutation_p.E6K	NM_000373.3	NP_000364.1	P11172	UMPS_HUMAN	uridine monophosphate synthetase	184	OPRTase.				'de novo' pyrimidine nucleobase biosynthetic process (GO:0006207)|'de novo' UMP biosynthetic process (GO:0044205)|cellular response to drug (GO:0035690)|female pregnancy (GO:0007565)|lactation (GO:0007595)|nucleobase-containing small molecule metabolic process (GO:0055086)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside biosynthetic process (GO:0046134)|small molecule metabolic process (GO:0044281)|UMP biosynthetic process (GO:0006222)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	orotate phosphoribosyltransferase activity (GO:0004588)|orotidine-5'-phosphate decarboxylase activity (GO:0004590)			cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	16				GBM - Glioblastoma multiforme(114;0.146)	Fluorouracil(DB00544)	GGAGATTCTCGAGCAGCAGAA	0.498																																						ENST00000232607.2																			0				cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	16						c.(550-552)Gag>Aag		uridine monophosphate synthetase							79	74	75					3																	124456654		2203	4300	6503	SO:0001583	missense	7372				'de novo' pyrimidine base biosynthetic process|'de novo' UMP biosynthetic process|pyrimidine nucleoside biosynthetic process	cytosol|nucleus	orotate phosphoribosyltransferase activity|orotidine-5'-phosphate decarboxylase activity	g.chr3:124456654G>A		CCDS3029.1	3q13	2008-02-04	2008-02-04		ENSG00000114491	ENSG00000114491	2.4.2.10, 4.1.1.23		12563	protein-coding gene	gene with protein product	"orotate phosphoribosyl transferase and orotidine-5'-decarboxylase"	613891				2767686	Standard	NM_000373		Approved		uc003ehl.4	P11172	OTTHUMG00000159431	ENST00000232607.2:c.550G>A	3.37:g.124456654G>A	ENSP00000232607:p.Glu184Lys					UMPS_ENST00000413078.2_Missense_Mutation_p.E6K|UMPS_ENST00000538242.1_Missense_Mutation_p.E6K|UMPS_ENST00000536109.1_Missense_Mutation_p.E92K|UMPS_ENST00000498715.1_3'UTR	p.E184K	NM_000373.3	NP_000364.1	P11172	UMPS_HUMAN		GBM - Glioblastoma multiforme(114;0.146)	3	656	+			184			OPRTase.		B5LY68|B5LY72|O00758|O00759|O00760|Q16862|Q9H3Q2|Q9UG49	Missense_Mutation	SNP	ENST00000232607.2	37	c.550G>A	CCDS3029.1	.	.	.	.	.	.	.	.	.	.	G	5.999	0.368298	0.11352	.	.	ENSG00000114491	ENST00000232607;ENST00000536109;ENST00000538242;ENST00000413078	T;T;T;T	0.70986	-0.53;-0.53;0.58;0.57	5.65	3.86	0.44501	.	0.367859	0.28560	N	0.014915	T	0.43722	0.1260	N	0.13198	0.31	0.25751	N	0.985054	P;B	0.45569	0.861;0.003	B;B	0.29353	0.101;0.004	T	0.29640	-1.0005	10	0.27082	T	0.32	-17.3113	9.8959	0.41318	0.073:0.2788:0.6482:0.0	.	6;184	B5LY72;P11172	.;UMPS_HUMAN	K	184;92;6;6	ENSP00000232607:E184K;ENSP00000443577:E92K;ENSP00000444988:E6K;ENSP00000397965:E6K	ENSP00000232607:E184K	E	+	1	0	UMPS	125939344	0.998000	0.40836	0.990000	0.47175	0.927000	0.56198	2.971000	0.49248	0.928000	0.37168	-0.136000	0.14681	GAG		0.498	UMPS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355271.1	NM_000373		20	12	0	0	0	1	0	20	12					A	124456654	G	A	124456654	3	1	435	1	0	0	0	0	1	0	0	0	16978	1059	37	2	560	2	UMPS	3	124456654	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	231	124456654	73565776	2011	22936											
HEG1	57493	broad.mit.edu	37	chr3	124731627	124731627	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggctgtactctgctgtaacGccaagctttgtggtcatttc	6	14	11	10	1	2	0	1	0	1	0	3	0	2	0	1	2	4	5	1	2	3	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:124731627G>A	ENST00000311127.4	-	6	2863	c.2796C>T	c.(2794-2796)ggC>ggT	p.G932G	HEG1_ENST00000477536.1_5'Flank	NM_020733.1	NP_065784.1	Q9ULI3	HEG1_HUMAN	heart development protein with EGF-like domains 1	932					cardiac atrium morphogenesis (GO:0003209)|cell-cell junction assembly (GO:0007043)|endothelial cell morphogenesis (GO:0001886)|in utero embryonic development (GO:0001701)|lung development (GO:0030324)|lymph circulation (GO:0003017)|lymph vessel development (GO:0001945)|multicellular organism growth (GO:0035264)|pericardium development (GO:0060039)|post-embryonic development (GO:0009791)|regulation of body fluid levels (GO:0050878)|vasculogenesis (GO:0001570)|venous blood vessel morphogenesis (GO:0048845)|ventricular septum development (GO:0003281)	cell-cell junction (GO:0005911)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(24)|ovary(2)|urinary_tract(4)	47						CTGCTGTAACGCCAAGCTTTG	0.502																																						ENST00000311127.4																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(24)|ovary(2)|urinary_tract(4)	47						c.(2794-2796)ggC>ggT		heart development protein with EGF-like domains 1							179	193	188					3																	124731627		2052	4194	6246	SO:0001819	synonymous_variant	57493					extracellular region|integral to membrane	calcium ion binding	g.chr3:124731627G>A	AK074987	CCDS46898.1	3q21.2	2013-03-08	2013-03-08		ENSG00000173706	ENSG00000173706			29227	protein-coding gene	gene with protein product	"heart of glass"	614182	"HEG homolog 1 (zebrafish)"			10574462, 19151727, 23007647	Standard	NM_020733		Approved	KIAA1237, HEG	uc003ehs.4	Q9ULI3	OTTHUMG00000159486	ENST00000311127.4:c.2796C>T	3.37:g.124731627G>A							p.G932G	NM_020733.1	NP_065784.1	Q9ULI3	HEG1_HUMAN			6	2863	-			932					Q6NX66|Q8NC40|Q9BSV0	Silent	SNP	ENST00000311127.4	37	c.2796C>T	CCDS46898.1																																																																																				0.502	HEG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355732.2	XM_087386		6	26	0	0	0	1	0	6	26					A	124731627	G	A	124731627	2	1	435	1	0	0	0	0	0	0	0	1	7044	1074	38	1		1	HEG1	3	124731627	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	274973	124731627	73290803	2012	22937											
SLC12A8	84561	broad.mit.edu	37	chr3	124906083	124906083	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccgggcgcaggcctcacctGtccaaacacatagagcagcc	10	4	10	17	2	1	1	1	0	0	1	2	1	2	1	5	2	3	2	5	2	2	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:124906083G>A	ENST00000393469.4	-	3	437	c.388C>T	c.(388-390)Cag>Tag	p.Q130*	SLC12A8_ENST00000314584.7_5'UTR|SLC12A8_ENST00000469902.1_Nonsense_Mutation_p.Q130*|SLC12A8_ENST00000423114.2_Nonsense_Mutation_p.Q159*	NM_001195483.1	NP_001182412	A0AV02	S12A8_HUMAN	solute carrier family 12, member 8	130					potassium ion transport (GO:0006813)	integral component of membrane (GO:0016021)	symporter activity (GO:0015293)			endometrium(2)|kidney(2)|lung(12)	16						GGCCTCACCTGTCCAAACACA	0.637																																						ENST00000423114.2																			0				endometrium(2)|kidney(2)|lung(12)	16						c.(475-477)Cag>Tag		solute carrier family 12, member 8							40	54	50					3																	124906083		2104	4213	6317	SO:0001587	stop_gained	84561				potassium ion transport	integral to membrane	symporter activity	g.chr3:124906083G>A		CCDS43143.1	3q21.2	2013-07-18	2013-07-18		ENSG00000221955	ENSG00000221955		"Solute carriers"	15595	protein-coding gene	gene with protein product	"solute carrier family 12 (sodium/potassium/chloride transporters), member 8", "cation-chloride cotransporter 9"	611316				11863360	Standard	NM_024628		Approved	CCC9	uc003ehv.4	A0AV02	OTTHUMG00000159483	ENST00000393469.4:c.388C>T	3.37:g.124906083G>A	ENSP00000377112:p.Gln130*					SLC12A8_ENST00000469902.1_Nonsense_Mutation_p.Q130*|SLC12A8_ENST00000393469.4_Nonsense_Mutation_p.Q130*|SLC12A8_ENST00000314584.7_5'UTR	p.Q159*			A0AV02	S12A8_HUMAN			4	474	-			130					C9JJJ2|Q68D04|Q6I9Z2|Q6P4C0|Q7Z3A6|Q86WK0|Q8NFX9|Q8WUI3|Q96RF9|Q9H5P9	Nonsense_Mutation	SNP	ENST00000393469.4	37	c.475C>T	CCDS43143.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	26.7|26.7	4.764576|4.764576	0.89932|0.89932	.|.	.|.	ENSG00000221955|ENSG00000221955	ENST00000393469;ENST00000423114;ENST00000469902;ENST00000462437|ENST00000479826	.|T	.|0.76060	.|-0.99	5.18|5.18	5.18|5.18	0.71444|0.71444	.|.	.|.	.|.	.|.	.|.	.|D	.|0.82962	.|0.5151	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.81658	.|-0.0833	.|5	0.62326|.	D|.	0.03|.	.|.	18.8905|18.8905	0.92399|0.92399	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	X|I	130;159;130;98|89	.|ENSP00000420197:T89I	ENSP00000377112:Q130X|.	Q|T	-|-	1|2	0|0	SLC12A8|SLC12A8	126388773|126388773	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.521000|0.521000	0.34408|0.34408	9.182000|9.182000	0.94881|0.94881	2.708000|2.708000	0.92522|0.92522	0.643000|0.643000	0.83706|0.83706	CAG|ACA		0.637	SLC12A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355711.4	NM_024628		14	15	0	0	0	1	0	14	15					A	124906083	G	A	124906083	4	1	435	1	0	0	0	0	0	1	0	0	14389	1386	48	3	1800	3	SLC12A8	3	124906083	Nonsense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	174456	124906083	73116347	2013	22938											
SNX4	8723	broad.mit.edu	37	chr3	125216976	125216976	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcttctcaacaactcaaatTcactatatcgccgccatagt	13	11	4	13	2	3	0	3	0	1	0	5	0	3	0	2	0	3	1	2	0	6	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:125216976T>C	ENST00000251775.4	-	3	350	c.326A>G	c.(325-327)gAa>gGa	p.E109G	SNX4_ENST00000473417.1_5'UTR|SNX4_ENST00000536067.1_5'UTR	NM_003794.2	NP_003785.1	O95219	SNX4_HUMAN	sorting nexin 4	109	PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.				endocytic recycling (GO:0032456)|intracellular protein transport (GO:0006886)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|cytoplasmic dynein complex (GO:0005868)|early endosome membrane (GO:0031901)|membrane (GO:0016020)|protein complex (GO:0043234)	epidermal growth factor receptor binding (GO:0005154)|insulin receptor binding (GO:0005158)|leptin receptor binding (GO:1990460)|phosphatidylinositol binding (GO:0035091)|transferrin receptor binding (GO:1990459)			breast(2)|central_nervous_system(1)|lung(6)|ovary(1)|skin(1)	11						CAACTCAAATTCACTATATCG	0.393																																						ENST00000251775.4																			0				breast(2)|central_nervous_system(1)|lung(6)|ovary(1)|skin(1)	11						c.(325-327)gAa>gGa		sorting nexin 4							70	71	71					3																	125216976		2203	4300	6503	SO:0001583	missense	8723				cell communication|endocytic recycling|endocytosis|protein transport	cytoplasmic dynein complex|early endosome membrane	phosphatidylinositol binding|protein binding	g.chr3:125216976T>C	AF065485	CCDS3032.1	3q21.2	2014-02-12			ENSG00000114520	ENSG00000114520		"Sorting nexins"	11175	protein-coding gene	gene with protein product		605931				9819414	Standard	NM_003794		Approved	ATG24B	uc003eib.4	O95219	OTTHUMG00000159575	ENST00000251775.4:c.326A>G	3.37:g.125216976T>C	ENSP00000251775:p.Glu109Gly					SNX4_ENST00000536067.1_5'UTR|SNX4_ENST00000473417.1_5'UTR	p.E109G	NM_003794.2	NP_003785.1	O95219	SNX4_HUMAN			3	350	-			109			PX.		B3KMH0|B4DQV4|D3DNA3	Missense_Mutation	SNP	ENST00000251775.4	37	c.326A>G	CCDS3032.1	.	.	.	.	.	.	.	.	.	.	T	24.4	4.529378	0.85706	.	.	ENSG00000114520	ENST00000251775	T	0.50548	0.74	5.24	5.24	0.73138	Phox homologous domain (5);	0.000000	0.85682	D	0.000000	T	0.77942	0.4206	H	0.96142	3.775	0.80722	D	1	D	0.71674	0.998	D	0.70227	0.968	D	0.85565	0.1230	10	0.87932	D	0	-20.1444	15.322	0.74129	0.0:0.0:0.0:1.0	.	109	O95219	SNX4_HUMAN	G	109	ENSP00000251775:E109G	ENSP00000251775:E109G	E	-	2	0	SNX4	126699666	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.050000	0.76620	2.201000	0.70794	0.528000	0.53228	GAA		0.393	SNX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356299.1	NM_003794		22	67	0	0	0	1	0	22	67					C	125216976	T	C	125216976	3	2	435	1	0	0	0	0	1	0	0	0	14904	1783	62	4	1074	4	SNX4	3	125216976	Missense_Mutation	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	310893	125216976	72805454	2014	22939											
OSBPL11	114885	broad.mit.edu	37	chr3	125271044	125271044	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttctccaaccattgtcacGcctattgacatgcctaagaa	11	11	5	14	1	2	2	1	1	1	1	3	2	2	2	5	0	2	0	5	0	4	5	rs572429737		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:125271044G>A	ENST00000296220.5	-	9	1924	c.1635C>T	c.(1633-1635)ggC>ggT	p.G545G		NM_022776.4	NP_073613.2	Q9BXB4	OSB11_HUMAN	oxysterol binding protein-like 11	545					fat cell differentiation (GO:0045444)|lipid transport (GO:0006869)|positive regulation of sequestering of triglyceride (GO:0010890)	endosome (GO:0005768)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	lipid binding (GO:0008289)			NS(1)|breast(1)|cervix(1)|kidney(2)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(1)	27						CCATTGTCACGCCTATTGACA	0.338													G|||	1	0.000199681	0	0	5008	,	,		14280	0		0	False		,,,				2504	0.001					ENST00000296220.5																			0				NS(1)|breast(1)|cervix(1)|kidney(2)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(1)	27						c.(1633-1635)ggC>ggT		oxysterol binding protein-like 11							110	102	104					3																	125271044		2203	4300	6503	SO:0001819	synonymous_variant	114885				lipid transport		lipid binding	g.chr3:125271044G>A	AF392454	CCDS3033.1	3q21	2013-01-10			ENSG00000144909	ENSG00000144909		"Oxysterol binding proteins", "Pleckstrin homology (PH) domain containing"	16397	protein-coding gene	gene with protein product		606739					Standard	NM_022776		Approved	ORP-11, ORP11, FLJ13012, FLJ13164	uc003eic.3	Q9BXB4	OTTHUMG00000159571	ENST00000296220.5:c.1635C>T	3.37:g.125271044G>A							p.G545G	NM_022776.4	NP_073613.2	Q9BXB4	OSB11_HUMAN			9	1924	-			545					A8K9I7	Silent	SNP	ENST00000296220.5	37	c.1635C>T	CCDS3033.1																																																																																				0.338	OSBPL11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356295.1	NM_022776		25	44	0	0	0	1	0	25	44					A	125271044	G	A	125271044	2	1	435	1	0	0	0	0	0	0	0	1	11276	1074	38	1		1	OSBPL11	3	125271044	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	54068	125271044	72751386	2015	22940											
OSBPL11	114885	broad.mit.edu	37	chr3	125271087	125271087	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgctcttagtccagacatgcGcatttacacacatcttcctc	9	13	5	14	1	2	1	0	0	2	1	5	1	4	1	2	0	3	2	2	0	2	4	rs578002517		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:125271087G>A	ENST00000296220.5	-	9	1881	c.1592C>T	c.(1591-1593)gCg>gTg	p.A531V		NM_022776.4	NP_073613.2	Q9BXB4	OSB11_HUMAN	oxysterol binding protein-like 11	531					fat cell differentiation (GO:0045444)|lipid transport (GO:0006869)|positive regulation of sequestering of triglyceride (GO:0010890)	endosome (GO:0005768)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	lipid binding (GO:0008289)	p.A531V(1)		NS(1)|breast(1)|cervix(1)|kidney(2)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(1)	27						CCAGACATGCGCATTTACACA	0.373													G|||	1	0.000199681	0	0	5008	,	,		16486	0		0	False		,,,				2504	0.001					ENST00000296220.5																			1	Substitution - Missense(1)	p.A531V(1)	large_intestine(1)	NS(1)|breast(1)|cervix(1)|kidney(2)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(1)	27						c.(1591-1593)gCg>gTg		oxysterol binding protein-like 11							127	118	121					3																	125271087		2203	4300	6503	SO:0001583	missense	114885				lipid transport		lipid binding	g.chr3:125271087G>A	AF392454	CCDS3033.1	3q21	2013-01-10			ENSG00000144909	ENSG00000144909		"Oxysterol binding proteins", "Pleckstrin homology (PH) domain containing"	16397	protein-coding gene	gene with protein product		606739					Standard	NM_022776		Approved	ORP-11, ORP11, FLJ13012, FLJ13164	uc003eic.3	Q9BXB4	OTTHUMG00000159571	ENST00000296220.5:c.1592C>T	3.37:g.125271087G>A	ENSP00000296220:p.Ala531Val						p.A531V	NM_022776.4	NP_073613.2	Q9BXB4	OSB11_HUMAN			9	1881	-			531					A8K9I7	Missense_Mutation	SNP	ENST00000296220.5	37	c.1592C>T	CCDS3033.1	.	.	.	.	.	.	.	.	.	.	G	19.41	3.822167	0.71028	.	.	ENSG00000144909	ENST00000296220	T	0.29917	1.55	4.71	2.93	0.34026	.	0.065888	0.64402	D	0.000003	T	0.40595	0.1123	M	0.75085	2.285	0.36857	D	0.888201	D	0.56746	0.977	P	0.49252	0.604	T	0.53222	-0.8469	10	0.62326	D	0.03	-10.1343	10.9992	0.47596	0.151:0.0:0.849:0.0	.	531	Q9BXB4	OSB11_HUMAN	V	531	ENSP00000296220:A531V	ENSP00000296220:A531V	A	-	2	0	OSBPL11	126753777	1.000000	0.71417	0.304000	0.25085	0.954000	0.61252	7.635000	0.83286	0.609000	0.30018	0.591000	0.81541	GCG		0.373	OSBPL11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356295.1	NM_022776		27	49	0	0	0	1	0	27	49					A	125271087	G	A	125271087	3	1	435	1	0	0	0	0	1	0	0	0	11276	1087	38	1	671	1	OSBPL11	3	125271087	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	43	125271087	72751343	2016	22941											
ROPN1B	152015	broad.mit.edu	37	chr3	125694467	125694467	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gagagcggtctgagcgagtcGctttgtgtaactgggcagag	8	9	17	7	3	1	3	0	1	1	2	2	5	1	3	0	2	3	3	0	2	1	2	rs138282395	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:125694467G>A	ENST00000514116.1	+	4	493	c.178G>A	c.(178-180)Gct>Act	p.A60T	ROPN1B_ENST00000505382.1_5'UTR|ROPN1B_ENST00000251776.4_Missense_Mutation_p.A60T|ROPN1B_ENST00000511082.1_5'UTR			Q9BZX4	ROP1B_HUMAN	rhophilin associated tail protein 1B	60					acrosome reaction (GO:0007340)|cytokinesis (GO:0000910)|fusion of sperm to egg plasma membrane (GO:0007342)|Rho protein signal transduction (GO:0007266)|single organismal cell-cell adhesion (GO:0016337)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|motile cilium (GO:0031514)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|receptor signaling complex scaffold activity (GO:0030159)			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|stomach(1)	8				GBM - Glioblastoma multiforme(114;0.151)		TGAGCGAGTCGCTTTGTGTAA	0.512																																						ENST00000514116.1																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|stomach(1)	8						c.(178-180)Gct>Act		rhophilin associated tail protein 1B		A	THR/ALA	2,4404	4.2+/-10.8	0,2,2201	110	99	103		178	-4.5	0	3	dbSNP_134	103	0,8600		0,0,4300	no	missense	ROPN1B	NM_001012337.1	58	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	benign	60/213	125694467	2,13004	2203	4300	6503	SO:0001583	missense	152015				acrosome reaction|cell-cell adhesion|cytokinesis|fusion of sperm to egg plasma membrane|Rho protein signal transduction|sperm motility|spermatogenesis	cytoplasm|flagellum	cAMP-dependent protein kinase regulator activity|protein heterodimerization activity|protein homodimerization activity|receptor signaling complex scaffold activity	g.chr3:125694467G>A	AF231410	CCDS33841.1	3q21.2	2011-01-20	2011-01-20		ENSG00000114547	ENSG00000114547			31927	protein-coding gene	gene with protein product			"ropporin, rhophilin associated protein 1B"				Standard	XM_005247137		Approved		uc003eih.3	Q9BZX4	OTTHUMG00000162651	ENST00000514116.1:c.178G>A	3.37:g.125694467G>A	ENSP00000426271:p.Ala60Thr					ROPN1B_ENST00000251776.4_Missense_Mutation_p.A60T|ROPN1B_ENST00000511082.1_5'UTR|ROPN1B_ENST00000505382.1_5'UTR	p.A60T			Q9BZX4	ROP1B_HUMAN		GBM - Glioblastoma multiforme(114;0.151)	4	493	+			60					D3DNA6|Q96BM7	Missense_Mutation	SNP	ENST00000514116.1	37	c.178G>A	CCDS33841.1	.	.	.	.	.	.	.	.	.	.	g	0.003	-2.550273	0.00140	4.54E-4	0.0	ENSG00000114547	ENST00000514116;ENST00000251776;ENST00000513830;ENST00000508088	T;T;T;T	0.42900	0.96;0.96;1.55;0.96	2.76	-4.49	0.03504	.	1.573170	0.03393	N	0.202124	T	0.12178	0.0296	N	0.01874	-0.695	0.23204	N	0.998122	B;B	0.13145	0.007;0.007	B;B	0.08055	0.001;0.003	T	0.15122	-1.0448	10	0.06625	T	0.88	-24.3895	0.9433	0.01360	0.2621:0.3484:0.2258:0.1637	.	60;60	B7Z7H1;Q9BZX4	.;ROP1B_HUMAN	T	60	ENSP00000426271:A60T;ENSP00000251776:A60T;ENSP00000425548:A60T;ENSP00000423058:A60T	ENSP00000251776:A60T	A	+	1	0	ROPN1B	127177157	0.000000	0.05858	0.006000	0.13384	0.015000	0.08874	-1.507000	0.02268	-0.810000	0.04375	-0.795000	0.03280	GCT		0.512	ROPN1B-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369931.1	NM_001012337		13	21	0	0	0	1	0	13	21					A	125694467	G	A	125694467	3	1	435	1	0	0	0	0	1	0	0	0	13524	1087	38	1	184	1	ROPN1B	3	125694467	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	423380	125694467	72327963	2017	22942											
KLF15	28999	broad.mit.edu	37	chr3	126071361	126071361	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tccagggtaggctggaagggCcgtgggacgtcatcaggatc	8	7	17	9	2	2	0	2	0	0	0	4	3	3	3	2	6	0	2	2	6	2	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:126071361C>T	ENST00000296233.3	-	2	635	c.405G>A	c.(403-405)cgG>cgA	p.R135R	KLF15_ENST00000509675.1_5'Flank	NM_014079.3	NP_054798.1	Q9UIH9	KLF15_HUMAN	Kruppel-like factor 15	135					cardiac muscle hypertrophy in response to stress (GO:0014898)|cellular response to peptide (GO:1901653)|glial cell differentiation (GO:0010001)|glomerular visceral epithelial cell differentiation (GO:0072112)|glucose transport (GO:0015758)|negative regulation of peptidyl-lysine acetylation (GO:2000757)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|transcription regulatory region DNA binding (GO:0044212)			endometrium(1)|lung(7)|ovary(2)|skin(2)	12				GBM - Glioblastoma multiforme(114;0.147)		GCTGGAAGGGCCGTGGGACGT	0.612																																						ENST00000296233.3																			0				endometrium(1)|lung(7)|ovary(2)|skin(2)	12						c.(403-405)cgG>cgA		Kruppel-like factor 15							38	40	40					3																	126071361		2203	4300	6503	SO:0001819	synonymous_variant	28999					nucleus	DNA binding|zinc ion binding	g.chr3:126071361C>T	AB029254	CCDS3036.1	3q21.3	2013-01-08			ENSG00000163884	ENSG00000163884		"Kruppel-like transcription factors", "Zinc fingers, C2H2-type"	14536	protein-coding gene	gene with protein product	"kidney-enriched Kruppel-like factor"	606465				10982849	Standard	NM_014079		Approved	KKLF	uc011bkk.1	Q9UIH9	OTTHUMG00000162689	ENST00000296233.3:c.405G>A	3.37:g.126071361C>T							p.R135R	NM_014079.3	NP_054798.1	Q9UIH9	KLF15_HUMAN		GBM - Glioblastoma multiforme(114;0.147)	2	635	-			135						Silent	SNP	ENST00000296233.3	37	c.405G>A	CCDS3036.1																																																																																				0.612	KLF15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370096.1	NM_014079		4	21	0	0	0	1	0	4	21					T	126071361	C	T	126071361	2	4	435	1	0	0	0	0	0	0	0	1	8343	726	26	3		3	KLF15	3	126071361	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	376894	126071361	71951069	2018	22943											
CHST13	166012	broad.mit.edu	37	chr3	126260941	126260941	+	Silent	SNP	G	G	A																															cccttcgagcgcctggcatcGgcttaccgcaacaagctcgc																										TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:126260941G>A	ENST00000319340.2	+	3	596	c.546G>A	c.(544-546)tcG>tcA	p.S182S		NM_152889.2	NP_690849.1	Q8NET6	CHSTD_HUMAN	carbohydrate (chondroitin 4) sulfotransferase 13	182					carbohydrate biosynthetic process (GO:0016051)|carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	chondroitin 4-sulfotransferase activity (GO:0047756)|N-acetylgalactosamine 4-O-sulfotransferase activity (GO:0001537)			central_nervous_system(1)|large_intestine(2)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	11				GBM - Glioblastoma multiforme(114;0.151)		GCCTGGCATCGGCTTACCGCA	0.711																																						ENST00000319340.2																			0				central_nervous_system(1)|large_intestine(2)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	11						c.(544-546)tcG>tcA		carbohydrate (chondroitin 4) sulfotransferase 13							9	11	10					3																	126260941		2134	4175	6309	SO:0001819	synonymous_variant	166012				chondroitin sulfate biosynthetic process	Golgi membrane|integral to membrane	chondroitin 4-sulfotransferase activity|N-acetylgalactosamine 4-O-sulfotransferase activity	g.chr3:126260941G>A	AY120869	CCDS3039.1	3q21.3	2008-02-05			ENSG00000180767	ENSG00000180767	2.8.2.5	"Sulfotransferases, membrane-bound"	21755	protein-coding gene	gene with protein product		610124				12080076	Standard	NM_152889		Approved	C4ST3	uc003eja.3	Q8NET6	OTTHUMG00000162721	ENST00000319340.2:c.546G>A	3.37:g.126260941G>A							p.S182S	NM_152889.2	NP_690849.1	Q8NET6	CHSTD_HUMAN		GBM - Glioblastoma multiforme(114;0.151)	3	596	+			182					Q3SYA3|Q3SYA5	Silent	SNP	ENST00000319340.2	37	c.546G>A	CCDS3039.1																																																																																				0.711	CHST13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370201.2	NM_152889		6	18	0	0	0	1	0	6	18					A	126260941	G	A	126260941	2	1	435	1	0	0	0	0	0	0	0	1	3401	1103	39	2		2	CHST13	3	126260941	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	189580	126260941	71761489	2019	22944	115	2									
CHST13	166012	broad.mit.edu	37	chr3	126260949	126260949	+	Missense_Mutation	SNP	G	G	A																															gcgcctggcatcggcttaccGcaacaagctcgcgcgcccct																										TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:126260949G>A	ENST00000319340.2	+	3	604	c.554G>A	c.(553-555)cGc>cAc	p.R185H		NM_152889.2	NP_690849.1	Q8NET6	CHSTD_HUMAN	carbohydrate (chondroitin 4) sulfotransferase 13	185					carbohydrate biosynthetic process (GO:0016051)|carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	chondroitin 4-sulfotransferase activity (GO:0047756)|N-acetylgalactosamine 4-O-sulfotransferase activity (GO:0001537)			central_nervous_system(1)|large_intestine(2)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	11				GBM - Glioblastoma multiforme(114;0.151)		TCGGCTTACCGCAACAAGCTC	0.726																																						ENST00000319340.2																			0				central_nervous_system(1)|large_intestine(2)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	11						c.(553-555)cGc>cAc		carbohydrate (chondroitin 4) sulfotransferase 13							9	10	10					3																	126260949		2132	4156	6288	SO:0001583	missense	166012				chondroitin sulfate biosynthetic process	Golgi membrane|integral to membrane	chondroitin 4-sulfotransferase activity|N-acetylgalactosamine 4-O-sulfotransferase activity	g.chr3:126260949G>A	AY120869	CCDS3039.1	3q21.3	2008-02-05			ENSG00000180767	ENSG00000180767	2.8.2.5	"Sulfotransferases, membrane-bound"	21755	protein-coding gene	gene with protein product		610124				12080076	Standard	NM_152889		Approved	C4ST3	uc003eja.3	Q8NET6	OTTHUMG00000162721	ENST00000319340.2:c.554G>A	3.37:g.126260949G>A	ENSP00000317404:p.Arg185His						p.R185H	NM_152889.2	NP_690849.1	Q8NET6	CHSTD_HUMAN		GBM - Glioblastoma multiforme(114;0.151)	3	604	+			185					Q3SYA3|Q3SYA5	Missense_Mutation	SNP	ENST00000319340.2	37	c.554G>A	CCDS3039.1	.	.	.	.	.	.	.	.	.	.	G	20.1	3.933322	0.73442	.	.	ENSG00000180767	ENST00000319340;ENST00000383575	T	0.75477	-0.94	4.73	3.83	0.44106	.	0.000000	0.85682	D	0.000000	D	0.87410	0.6170	M	0.90369	3.11	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.88758	0.3255	10	0.87932	D	0	-31.671	11.8029	0.52137	0.0:0.0:0.8229:0.1771	.	185	Q8NET6	CHSTD_HUMAN	H	185	ENSP00000317404:R185H	ENSP00000317404:R185H	R	+	2	0	CHST13	127743639	1.000000	0.71417	1.000000	0.80357	0.563000	0.35712	7.572000	0.82409	0.934000	0.37316	0.491000	0.48974	CGC		0.726	CHST13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370201.2	NM_152889		10	13	0	0	0	1	0	10	13					A	126260949	G	A	126260949	3	1	435	1	0	0	0	0	1	0	0	0	3401	1087	38	1	564	1	CHST13	3	126260949	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	8	126260949	71761481	2020	22945	115	2									
PLXNA1	5361	broad.mit.edu	37	chr3	126707689	126707689	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgacactgctgcgggcccacGtcacgggccctgtggaggac	6	6	15	14	3	1	1	1	1	0	0	1	3	1	3	2	4	2	1	2	4	0	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:126707689G>A	ENST00000393409.2	+	1	253	c.253G>A	c.(253-255)Gtc>Atc	p.V85I	PLXNA1_ENST00000251772.4_Missense_Mutation_p.V62I	NM_032242.3	NP_115618.3	Q9UIW2	PLXA1_HUMAN	plexin A1	85	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|multicellular organismal development (GO:0007275)|regulation of smooth muscle cell migration (GO:0014910)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	receptor activity (GO:0004872)|semaphorin receptor activity (GO:0017154)			breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67				GBM - Glioblastoma multiforme(114;0.155)		GCGGGCCCACGTCACGGGCCC	0.632																																						ENST00000251772.4																			0				breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67						c.(184-186)Gtc>Atc		plexin A1							70	62	64					3																	126707689		2203	4300	6503	SO:0001583	missense	5361				axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity	g.chr3:126707689G>A	X87832	CCDS33847.1, CCDS33847.2	3q21.2	2006-12-19				ENSG00000114554		"Plexins"	9099	protein-coding gene	gene with protein product		601055		PLXN1		8570614	Standard	NM_032242		Approved	NOV	uc003ejg.3	Q9UIW2		ENST00000393409.2:c.253G>A	3.37:g.126707689G>A	ENSP00000377061:p.Val85Ile					PLXNA1_ENST00000393409.2_Missense_Mutation_p.V85I	p.V62I			Q9UIW2	PLXA1_HUMAN		GBM - Glioblastoma multiforme(114;0.155)	1	253	+			85			Sema.			Missense_Mutation	SNP	ENST00000393409.2	37	c.184G>A	CCDS33847.2	.	.	.	.	.	.	.	.	.	.	G	10.39	1.336989	0.24253	.	.	ENSG00000114554	ENST00000393409;ENST00000251772	T;T	0.10573	2.86;2.86	3.56	3.56	0.40772	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	3.946380	0.01377	N	0.012782	T	0.13628	0.0330	L	0.39085	1.19	0.43172	D	0.994972	B	0.28324	0.207	B	0.21917	0.037	T	0.15896	-1.0421	10	0.36615	T	0.2	.	15.3359	0.74255	0.0:0.0:1.0:0.0	.	85	Q9UIW2	PLXA1_HUMAN	I	85;62	ENSP00000377061:V85I;ENSP00000251772:V62I	ENSP00000251772:V62I	V	+	1	0	PLXNA1	128190379	1.000000	0.71417	0.961000	0.40146	0.479000	0.33129	5.818000	0.69236	1.834000	0.53371	0.313000	0.20887	GTC		0.632	PLXNA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356451.1	NM_032242		18	24	0	0	0	1	0	18	24					A	126707689	G	A	126707689	3	1	435	1	0	0	0	0	1	0	0	0	12119	1145	40	1	255	1	PLXNA1	3	126707689	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	446740	126707689	71314741	2021	22946											
PLXNA1	5361	broad.mit.edu	37	chr3	126708434	126708434	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagctgggcctggctgaggAcgaggacgtgctgttcactg	6	8	16	11	2	1	1	1	1	0	0	1	4	1	3	2	4	2	4	2	4	0	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:126708434A>G	ENST00000393409.2	+	1	998	c.998A>G	c.(997-999)gAc>gGc	p.D333G	PLXNA1_ENST00000251772.4_Missense_Mutation_p.D310G	NM_032242.3	NP_115618.3	Q9UIW2	PLXA1_HUMAN	plexin A1	333	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|multicellular organismal development (GO:0007275)|regulation of smooth muscle cell migration (GO:0014910)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	receptor activity (GO:0004872)|semaphorin receptor activity (GO:0017154)			breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67				GBM - Glioblastoma multiforme(114;0.155)		CTGGCTGAGGACGAGGACGTG	0.657																																						ENST00000251772.4																			0				breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67						c.(928-930)gAc>gGc		plexin A1							72	76	75					3																	126708434		2203	4300	6503	SO:0001583	missense	5361				axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity	g.chr3:126708434A>G	X87832	CCDS33847.1, CCDS33847.2	3q21.2	2006-12-19				ENSG00000114554		"Plexins"	9099	protein-coding gene	gene with protein product		601055		PLXN1		8570614	Standard	NM_032242		Approved	NOV	uc003ejg.3	Q9UIW2		ENST00000393409.2:c.998A>G	3.37:g.126708434A>G	ENSP00000377061:p.Asp333Gly					PLXNA1_ENST00000393409.2_Missense_Mutation_p.D333G	p.D310G			Q9UIW2	PLXA1_HUMAN		GBM - Glioblastoma multiforme(114;0.155)	1	998	+			333			Sema.			Missense_Mutation	SNP	ENST00000393409.2	37	c.929A>G	CCDS33847.2	.	.	.	.	.	.	.	.	.	.	A	7.489	0.650323	0.14516	.	.	ENSG00000114554	ENST00000393409;ENST00000251772	T;T	0.04551	3.6;3.6	4.15	0.372	0.16173	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.672327	0.14019	N	0.346896	T	0.06005	0.0156	L	0.49256	1.55	0.19575	N	0.999968	B	0.18310	0.027	B	0.35655	0.207	T	0.43845	-0.9366	10	0.21540	T	0.41	.	5.2024	0.15273	0.5377:0.1496:0.3128:0.0	.	333	Q9UIW2	PLXA1_HUMAN	G	333;310	ENSP00000377061:D333G;ENSP00000251772:D310G	ENSP00000251772:D310G	D	+	2	0	PLXNA1	128191124	0.442000	0.25633	0.992000	0.48379	0.845000	0.48019	1.403000	0.34612	0.666000	0.31087	0.402000	0.26972	GAC		0.657	PLXNA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356451.1	NM_032242		37	42	0	0	0	1	0	37	42					G	126708434	A	G	126708434	3	3	435	1	0	0	0	0	1	0	0	0	12119	275	10	4	1000	4	PLXNA1	3	126708434	Missense_Mutation	SNP	A	TCGA-XK-AAIW-01A-11D-A41K-08	745	126708434	71313996	2022	22947											
PLXNA1	5361	broad.mit.edu	37	chr3	126734114	126734114	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agggaagccacctgaacgcaGgcagtgatgtggctgtgtcg	9	7	16	9	2	0	2	0	2	0	0	1	3	0	3	2	3	2	3	2	3	2	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:126734114G>T	ENST00000393409.2	+	14	2965	c.2965G>T	c.(2965-2967)Ggc>Tgc	p.G989C	PLXNA1_ENST00000251772.4_Missense_Mutation_p.G966C	NM_032242.3	NP_115618.3	Q9UIW2	PLXA1_HUMAN	plexin A1	989	IPT/TIG 2.				axon guidance (GO:0007411)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|multicellular organismal development (GO:0007275)|regulation of smooth muscle cell migration (GO:0014910)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	receptor activity (GO:0004872)|semaphorin receptor activity (GO:0017154)			breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67				GBM - Glioblastoma multiforme(114;0.155)		CCTGAACGCAGGCAGTGATGT	0.662																																						ENST00000251772.4																			0				breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67						c.(2896-2898)Ggc>Tgc		plexin A1							61	62	62					3																	126734114		2203	4300	6503	SO:0001583	missense	5361				axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity	g.chr3:126734114G>T	X87832	CCDS33847.1, CCDS33847.2	3q21.2	2006-12-19				ENSG00000114554		"Plexins"	9099	protein-coding gene	gene with protein product		601055		PLXN1		8570614	Standard	NM_032242		Approved	NOV	uc003ejg.3	Q9UIW2		ENST00000393409.2:c.2965G>T	3.37:g.126734114G>T	ENSP00000377061:p.Gly989Cys					PLXNA1_ENST00000393409.2_Missense_Mutation_p.G989C	p.G966C			Q9UIW2	PLXA1_HUMAN		GBM - Glioblastoma multiforme(114;0.155)	14	2965	+			989			IPT/TIG 2.			Missense_Mutation	SNP	ENST00000393409.2	37	c.2896G>T	CCDS33847.2	.	.	.	.	.	.	.	.	.	.	G	23.1	4.375457	0.82682	.	.	ENSG00000114554	ENST00000393409;ENST00000251772	T;T	0.76709	-1.04;-1.04	4.37	4.37	0.52481	Cell surface receptor IPT/TIG (2);Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000004	D	0.90683	0.7077	M	0.92219	3.285	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.93279	0.6658	10	0.87932	D	0	.	17.0974	0.86639	0.0:0.0:1.0:0.0	.	989	Q9UIW2	PLXA1_HUMAN	C	989;966	ENSP00000377061:G989C;ENSP00000251772:G966C	ENSP00000251772:G966C	G	+	1	0	PLXNA1	128216804	1.000000	0.71417	0.970000	0.41538	0.616000	0.37450	9.642000	0.98461	2.260000	0.74910	0.491000	0.48974	GGC		0.662	PLXNA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356451.1	NM_032242		16	14	1	0	6.94344e-10	1	7.39541e-10	16	14					T	126734114	G	T	126734114	3	4	435	1	0	0	0	0	1	0	0	0	12119	1000	35	5	3019	5	PLXNA1	3	126734114	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	25680	126734114	71288316	2023	22948											
PLXNA1	5361	broad.mit.edu	37	chr3	126737303	126737303	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caagtcacgagatgctgaccGcacactcaagcggctgcagc	11	5	11	14	3	2	2	2	1	0	1	2	3	2	2	1	1	4	4	1	1	2	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:126737303G>A	ENST00000393409.2	+	19	3827	c.3827G>A	c.(3826-3828)cGc>cAc	p.R1276H	PLXNA1_ENST00000251772.4_Missense_Mutation_p.R1253H	NM_032242.3	NP_115618.3	Q9UIW2	PLXA1_HUMAN	plexin A1	1276					axon guidance (GO:0007411)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|multicellular organismal development (GO:0007275)|regulation of smooth muscle cell migration (GO:0014910)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	receptor activity (GO:0004872)|semaphorin receptor activity (GO:0017154)			breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67				GBM - Glioblastoma multiforme(114;0.155)		GATGCTGACCGCACACTCAAG	0.632																																						ENST00000251772.4																			0				breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67						c.(3757-3759)cGc>cAc		plexin A1							66	56	60					3																	126737303		2203	4300	6503	SO:0001583	missense	5361				axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity	g.chr3:126737303G>A	X87832	CCDS33847.1, CCDS33847.2	3q21.2	2006-12-19				ENSG00000114554		"Plexins"	9099	protein-coding gene	gene with protein product		601055		PLXN1		8570614	Standard	NM_032242		Approved	NOV	uc003ejg.3	Q9UIW2		ENST00000393409.2:c.3827G>A	3.37:g.126737303G>A	ENSP00000377061:p.Arg1276His					PLXNA1_ENST00000393409.2_Missense_Mutation_p.R1276H	p.R1253H			Q9UIW2	PLXA1_HUMAN		GBM - Glioblastoma multiforme(114;0.155)	19	3827	+			1276						Missense_Mutation	SNP	ENST00000393409.2	37	c.3758G>A	CCDS33847.2	.	.	.	.	.	.	.	.	.	.	G	16.68	3.191071	0.58017	.	.	ENSG00000114554	ENST00000393409;ENST00000251772	T;T	0.14893	2.47;2.47	4.18	4.18	0.49190	.	0.082498	0.44285	D	0.000478	T	0.46034	0.1372	M	0.86502	2.82	0.80722	D	1	D	0.69078	0.997	D	0.64410	0.925	T	0.58381	-0.7646	10	0.72032	D	0.01	.	16.6728	0.85271	0.0:0.0:1.0:0.0	.	1276	Q9UIW2	PLXA1_HUMAN	H	1276;1253	ENSP00000377061:R1276H;ENSP00000251772:R1253H	ENSP00000251772:R1253H	R	+	2	0	PLXNA1	128219993	1.000000	0.71417	1.000000	0.80357	0.229000	0.25112	5.163000	0.64948	2.158000	0.67659	0.467000	0.42956	CGC		0.632	PLXNA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356451.1	NM_032242		15	18	0	0	0	1	0	15	18					A	126737303	G	A	126737303	3	1	435	1	0	0	0	0	1	0	0	0	12119	1087	38	1	3901	1	PLXNA1	3	126737303	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	3189	126737303	71285127	2024	22949											
PLXNA1	5361	broad.mit.edu	37	chr3	126740951	126740951	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caggccaatgtggagaagtcGctgacactgttcgggcagct	9	8	14	10	2	0	2	0	1	0	1	2	3	0	2	1	3	1	4	1	3	2	1	rs371281283		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:126740951G>A	ENST00000393409.2	+	21	4062	c.4062G>A	c.(4060-4062)tcG>tcA	p.S1354S	PLXNA1_ENST00000251772.4_Silent_p.S1331S	NM_032242.3	NP_115618.3	Q9UIW2	PLXA1_HUMAN	plexin A1	1354					axon guidance (GO:0007411)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|multicellular organismal development (GO:0007275)|regulation of smooth muscle cell migration (GO:0014910)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	receptor activity (GO:0004872)|semaphorin receptor activity (GO:0017154)			breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67				GBM - Glioblastoma multiforme(114;0.155)		TGGAGAAGTCGCTGACACTGT	0.632																																						ENST00000251772.4																			0				breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67						c.(3991-3993)tcG>tcA		plexin A1		G		1,4405	2.1+/-5.4	0,1,2202	68	54	59		4062	-6.7	0.1	3		59	0,8600		0,0,4300	no	coding-synonymous	PLXNA1	NM_032242.3		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		1354/1897	126740951	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	5361				axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity	g.chr3:126740951G>A	X87832	CCDS33847.1, CCDS33847.2	3q21.2	2006-12-19				ENSG00000114554		"Plexins"	9099	protein-coding gene	gene with protein product		601055		PLXN1		8570614	Standard	NM_032242		Approved	NOV	uc003ejg.3	Q9UIW2		ENST00000393409.2:c.4062G>A	3.37:g.126740951G>A						PLXNA1_ENST00000393409.2_Silent_p.S1354S	p.S1331S			Q9UIW2	PLXA1_HUMAN		GBM - Glioblastoma multiforme(114;0.155)	21	4062	+			1354						Silent	SNP	ENST00000393409.2	37	c.3993G>A	CCDS33847.2																																																																																				0.632	PLXNA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356451.1	NM_032242		8	13	0	0	0	1	0	8	13					A	126740951	G	A	126740951	2	1	435	1	0	0	0	0	0	0	0	1	12119	1074	38	1		1	PLXNA1	3	126740951	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	3648	126740951	71281479	2025	22950											
PLXNA1	5361	broad.mit.edu	37	chr3	126749233	126749233	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agatccacgatgctgacgtgCgccacacctggaagagcaac	12	5	11	13	3	0	3	0	1	0	2	1	5	1	4	3	1	4	2	3	1	2	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:126749233C>T	ENST00000393409.2	+	28	5209	c.5209C>T	c.(5209-5211)Cgc>Tgc	p.R1737C	PLXNA1_ENST00000251772.4_Missense_Mutation_p.R1714C	NM_032242.3	NP_115618.3	Q9UIW2	PLXA1_HUMAN	plexin A1	1737					axon guidance (GO:0007411)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|multicellular organismal development (GO:0007275)|regulation of smooth muscle cell migration (GO:0014910)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	receptor activity (GO:0004872)|semaphorin receptor activity (GO:0017154)			breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67				GBM - Glioblastoma multiforme(114;0.155)		TGCTGACGTGCGCCACACCTG	0.642																																						ENST00000251772.4																			0				breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67						c.(5140-5142)Cgc>Tgc		plexin A1							115	104	108					3																	126749233		2203	4300	6503	SO:0001583	missense	5361				axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity	g.chr3:126749233C>T	X87832	CCDS33847.1, CCDS33847.2	3q21.2	2006-12-19				ENSG00000114554		"Plexins"	9099	protein-coding gene	gene with protein product		601055		PLXN1		8570614	Standard	NM_032242		Approved	NOV	uc003ejg.3	Q9UIW2		ENST00000393409.2:c.5209C>T	3.37:g.126749233C>T	ENSP00000377061:p.Arg1737Cys					PLXNA1_ENST00000393409.2_Missense_Mutation_p.R1737C	p.R1714C			Q9UIW2	PLXA1_HUMAN		GBM - Glioblastoma multiforme(114;0.155)	28	5209	+			1737						Missense_Mutation	SNP	ENST00000393409.2	37	c.5140C>T	CCDS33847.2	.	.	.	.	.	.	.	.	.	.	C	15.09	2.731087	0.48939	.	.	ENSG00000114554	ENST00000393409;ENST00000251772	T;T	0.11277	2.79;2.79	3.73	3.73	0.42828	Plexin, cytoplasmic RasGAP domain (1);Rho GTPase activation protein (1);	0.277122	0.27705	N	0.018181	T	0.26448	0.0646	L	0.59912	1.85	0.58432	D	0.999998	D;D	0.89917	0.999;1.0	D;D	0.97110	0.973;1.0	T	0.00738	-1.1587	10	0.52906	T	0.07	.	11.2676	0.49120	0.2328:0.7672:0.0:0.0	.	351;1737	Q6ZTY7;Q9UIW2	.;PLXA1_HUMAN	C	1737;1714	ENSP00000377061:R1737C;ENSP00000251772:R1714C	ENSP00000251772:R1714C	R	+	1	0	PLXNA1	128231923	1.000000	0.71417	1.000000	0.80357	0.437000	0.31866	2.958000	0.49145	2.066000	0.61787	0.313000	0.20887	CGC		0.642	PLXNA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356451.1	NM_032242		6	52	0	0	0	1	0	6	52					T	126749233	C	T	126749233	3	4	435	1	0	0	0	0	1	0	0	0	12119	768	27	1	5319	1	PLXNA1	3	126749233	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	8282	126749233	71273197	2026	22951											
PLXNA1	5361	broad.mit.edu	37	chr3	126751581	126751581	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcagcgaccaggacatgagtGcgtatctggctgagcagtcc	9	8	13	11	2	2	2	1	2	1	0	3	4	3	3	2	2	3	3	2	2	1	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:126751581G>A	ENST00000393409.2	+	30	5497	c.5497G>A	c.(5497-5499)Gcg>Acg	p.A1833T	PLXNA1_ENST00000505278.1_3'UTR|PLXNA1_ENST00000251772.4_Missense_Mutation_p.A1810T	NM_032242.3	NP_115618.3	Q9UIW2	PLXA1_HUMAN	plexin A1	1833					axon guidance (GO:0007411)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|multicellular organismal development (GO:0007275)|regulation of smooth muscle cell migration (GO:0014910)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	receptor activity (GO:0004872)|semaphorin receptor activity (GO:0017154)			breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67				GBM - Glioblastoma multiforme(114;0.155)		GGACATGAGTGCGTATCTGGC	0.577																																						ENST00000251772.4																			0				breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67						c.(5428-5430)Gcg>Acg		plexin A1							103	85	91					3																	126751581		2203	4300	6503	SO:0001583	missense	5361				axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity	g.chr3:126751581G>A	X87832	CCDS33847.1, CCDS33847.2	3q21.2	2006-12-19				ENSG00000114554		"Plexins"	9099	protein-coding gene	gene with protein product		601055		PLXN1		8570614	Standard	NM_032242		Approved	NOV	uc003ejg.3	Q9UIW2		ENST00000393409.2:c.5497G>A	3.37:g.126751581G>A	ENSP00000377061:p.Ala1833Thr					PLXNA1_ENST00000505278.1_3'UTR|PLXNA1_ENST00000393409.2_Missense_Mutation_p.A1833T	p.A1810T			Q9UIW2	PLXA1_HUMAN		GBM - Glioblastoma multiforme(114;0.155)	30	5497	+			1833						Missense_Mutation	SNP	ENST00000393409.2	37	c.5428G>A	CCDS33847.2	.	.	.	.	.	.	.	.	.	.	G	26.6	4.751054	0.89753	.	.	ENSG00000114554	ENST00000393409;ENST00000251772	T;T	0.11495	2.77;2.77	3.74	3.74	0.42951	Plexin, cytoplasmic RasGAP domain (1);Rho GTPase activation protein (1);	0.273634	0.29192	N	0.012877	T	0.22044	0.0531	L	0.49455	1.56	0.80722	D	1	P;P	0.46706	0.87;0.883	P;P	0.55965	0.777;0.788	T	0.01608	-1.1313	10	0.33940	T	0.23	.	16.0891	0.81080	0.0:0.0:1.0:0.0	.	447;1833	Q6ZTY7;Q9UIW2	.;PLXA1_HUMAN	T	1833;1810	ENSP00000377061:A1833T;ENSP00000251772:A1810T	ENSP00000251772:A1810T	A	+	1	0	PLXNA1	128234271	1.000000	0.71417	0.612000	0.29024	0.893000	0.52053	9.464000	0.97655	2.088000	0.63022	0.591000	0.81541	GCG		0.577	PLXNA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356451.1	NM_032242		9	39	0	0	0	1	0	9	39					A	126751581	G	A	126751581	3	1	435	1	0	0	0	0	1	0	0	0	12119	1319	46	3	5615	3	PLXNA1	3	126751581	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	2348	126751581	71270849	2027	22952											
TPRA1	131601	broad.mit.edu	37	chr3	127298945	127298945	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggtgccaggggtgggggtagCgctgtgctcccattggccca	4	8	18	11	1	0	0	0	0	0	0	1	0	1	0	3	6	3	3	3	6	1	2	rs528772861		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:127298945C>T	ENST00000355552.3	-	2	421	c.45G>A	c.(43-45)gcG>gcA	p.A15A	TPRA1_ENST00000450633.2_Silent_p.A15A|TPRA1_ENST00000489960.1_Silent_p.A15A|TPRA1_ENST00000296210.7_Silent_p.A15A	NM_001136053.1	NP_001129525.1	Q86W33	TPRA1_HUMAN	transmembrane protein, adipocyte asscociated 1	15					aging (GO:0007568)|G-protein coupled receptor signaling pathway (GO:0007186)|lipid metabolic process (GO:0006629)	integral component of membrane (GO:0016021)	G-protein coupled receptor activity (GO:0004930)			endometrium(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	9						GTGGGGGTAGCGCTGTGCTCC	0.642													C|||	1	0.000199681	0	0	5008	,	,		17630	0		0	False		,,,				2504	0.001					ENST00000355552.3																			0				endometrium(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	9						c.(43-45)gcG>gcA		transmembrane protein, adipocyte asscociated 1							107	84	92					3																	127298945		2203	4300	6503	SO:0001819	synonymous_variant	131601				aging|lipid metabolic process	integral to membrane	G-protein coupled receptor activity	g.chr3:127298945C>T	AK056759	CCDS3042.1, CCDS46899.1	3q21.2	2012-08-22	2009-07-08	2009-07-08	ENSG00000163870	ENSG00000163870		"GPCR / Unclassified : 7TM orphan receptors"	30413	protein-coding gene	gene with protein product	"transmembrane protein 227"	608336	"G protein-coupled receptor 175"	GPR175		10342878	Standard	NM_001136053		Approved	TPRA40, FLJ32197, TMEM227	uc003ejn.3	Q86W33	OTTHUMG00000159639	ENST00000355552.3:c.45G>A	3.37:g.127298945C>T						TPRA1_ENST00000296210.7_Silent_p.A15A|TPRA1_ENST00000450633.2_Silent_p.A15A|TPRA1_ENST00000489960.1_Silent_p.A15A	p.A15A	NM_001136053.1	NP_001129525.1	Q86W33	TPRA1_HUMAN			2	421	-			15					A8MVB8|D3DNA9|Q8WZ24|Q96AJ6|Q9P2R4	Silent	SNP	ENST00000355552.3	37	c.45G>A	CCDS3042.1																																																																																				0.642	TPRA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356624.1	NM_016372		7	18	0	0	0	1	0	7	18					T	127298945	C	T	127298945	2	4	435	1	0	0	0	0	0	0	0	1	16414	755	27	1		1	TPRA1	3	127298945	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	547364	127298945	70723485	2028	22953											
MCM2	4171	broad.mit.edu	37	chr3	127337956	127337956	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gaggggctggccaatggcagCgctgctgagcccgccatgcc	6	5	16	14	2	0	1	0	1	0	0	0	2	0	1	4	4	4	4	4	4	1	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:127337956C>T	ENST00000265056.7	+	13	2344	c.2100C>T	c.(2098-2100)agC>agT	p.S700S	MCM2_ENST00000468414.1_3'UTR	NM_004526.2	NP_004517.2	P49736	MCM2_HUMAN	minichromosome maintenance complex component 2	700					cell cycle (GO:0007049)|cellular response to interleukin-4 (GO:0071353)|DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA unwinding involved in DNA replication (GO:0006268)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|nucleosome assembly (GO:0006334)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|MCM complex (GO:0042555)|microtubule cytoskeleton (GO:0015630)|nuclear origin of replication recognition complex (GO:0005664)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA replication origin binding (GO:0003688)|metal ion binding (GO:0046872)			ovary(3)|skin(2)|stomach(1)	6						CCAATGGCAGCGCTGCTGAGC	0.627																																						ENST00000265056.7																			0				ovary(3)|skin(2)|stomach(1)	6						c.(2098-2100)agC>agT		minichromosome maintenance complex component 2							37	32	33					3																	127337956		2202	4300	6502	SO:0001819	synonymous_variant	4171				cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	chromatin|MCM complex	ATP binding|helicase activity|metal ion binding	g.chr3:127337956C>T	X67334	CCDS3043.1	3q21	2007-04-04	2007-04-04		ENSG00000073111	ENSG00000073111			6944	protein-coding gene	gene with protein product	"mitotin"	116945	"minichromosome maintenance deficient (S. cerevisiae) 2 (mitotin)", "MCM2 minichromosome maintenance deficient 2, mitotin (S. cerevisiae)"	CCNL1, CDCL1		1710453, 8258304	Standard	NM_004526		Approved	D3S3194, KIAA0030, BM28, cdc19	uc003ejp.4	P49736	OTTHUMG00000159637	ENST00000265056.7:c.2100C>T	3.37:g.127337956C>T						MCM2_ENST00000468414.1_3'UTR	p.S700S	NM_004526.2	NP_004517.2	P49736	MCM2_HUMAN			13	2344	+			700					Q14577|Q15023|Q8N2V1|Q969W7|Q96AE1|Q9BRM7	Silent	SNP	ENST00000265056.7	37	c.2100C>T	CCDS3043.1	.	.	.	.	.	.	.	.	.	.	C	0.059	-1.229841	0.01518	.	.	ENSG00000073111	ENST00000491422	.	.	.	5.61	0.0646	0.14354	.	.	.	.	.	T	0.21267	0.0512	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.23511	-1.0186	4	.	.	.	-11.2213	2.2509	0.04043	0.1076:0.348:0.2835:0.2609	.	.	.	.	V	632	.	.	A	+	2	0	MCM2	128820646	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	-1.537000	0.02206	0.309000	0.22966	-0.229000	0.12294	GCG		0.627	MCM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356612.1			3	9	0	0	0	1	0	3	9					T	127337956	C	T	127337956	2	4	435	1	0	0	0	0	0	0	0	1	9386	767	27	1		1	MCM2	3	127337956	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	39011	127337956	70684474	2029	22954											
PODXL2	50512	broad.mit.edu	37	chr3	127388016	127388016	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctcaagatgtcctttccatgCtgggtgacatccgcaggagc	8	10	11	12	1	1	2	1	1	0	1	4	3	4	3	3	2	2	2	3	2	1	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:127388016C>T	ENST00000342480.6	+	6	1435	c.1396C>T	c.(1396-1398)Ctg>Ttg	p.L466L		NM_015720.2	NP_056535.1	Q9NZ53	PDXL2_HUMAN	podocalyxin-like 2	466					leukocyte tethering or rolling (GO:0050901)	integral component of plasma membrane (GO:0005887)	glycosaminoglycan binding (GO:0005539)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	26						CCTTTCCATGCTGGGTGACAT	0.572																																						ENST00000342480.6																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	26						c.(1396-1398)Ctg>Ttg		podocalyxin-like 2							78	67	71					3																	127388016		2203	4300	6503	SO:0001819	synonymous_variant	50512				leukocyte tethering or rolling	integral to plasma membrane	glycosaminoglycan binding|protein binding	g.chr3:127388016C>T	AF219137	CCDS3044.1	3q21.3	2005-02-18			ENSG00000114631	ENSG00000114631			17936	protein-coding gene	gene with protein product	"endoglycan"					10722749	Standard	NM_015720		Approved	PODLX2, endoglycan	uc003ejq.3	Q9NZ53	OTTHUMG00000159642	ENST00000342480.6:c.1396C>T	3.37:g.127388016C>T							p.L466L	NM_015720.2	NP_056535.1	Q9NZ53	PDXL2_HUMAN			6	1435	+			466					Q6UVY4|Q8WUV6	Silent	SNP	ENST00000342480.6	37	c.1396C>T	CCDS3044.1																																																																																				0.572	PODXL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356638.1	NM_015720		4	10	0	0	0	1	0	4	10					T	127388016	C	T	127388016	2	4	435	1	0	0	0	0	0	0	0	1	12181	796	28	3		3	PODXL2	3	127388016	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	50060	127388016	70634414	2030	22955											
ABTB1	80325	broad.mit.edu	37	chr3	127395843	127395843	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggcgtagagcatgtgagtgActgtgagcgcctggccaagc	8	8	16	9	2	0	4	0	3	0	1	0	4	0	4	2	2	3	2	2	2	2	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:127395843A>G	ENST00000232744.8	+	7	646	c.560A>G	c.(559-561)gAc>gGc	p.D187G	ABTB1_ENST00000453791.2_Missense_Mutation_p.D45G|ABTB1_ENST00000468137.1_Missense_Mutation_p.D45G|ABTB1_ENST00000393363.3_Missense_Mutation_p.D45G					ankyrin repeat and BTB (POZ) domain containing 1											central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	10						CATGTGAGTGACTGTGAGCGC	0.622																																						ENST00000468137.1																			0				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	10						c.(133-135)gAc>gGc		ankyrin repeat and BTB (POZ) domain containing 1							57	53	54					3																	127395843		2203	4300	6503	SO:0001583	missense	80325					cytoplasm|nucleolus|plasma membrane	translation elongation factor activity	g.chr3:127395843A>G	AB053324	CCDS3045.1, CCDS46901.1	3q21	2013-01-10			ENSG00000114626	ENSG00000114626		"BTB/POZ domain containing", "Ankyrin repeat domain containing"	18275	protein-coding gene	gene with protein product		608308				10891360, 11494141	Standard	NM_172027		Approved	BPOZ, EF1ABP, Btb3, BTBD21	uc003ejt.3	Q969K4	OTTHUMG00000159636	ENST00000232744.8:c.560A>G	3.37:g.127395843A>G	ENSP00000232744:p.Asp187Gly					ABTB1_ENST00000232744.8_Missense_Mutation_p.D187G|ABTB1_ENST00000453791.2_Missense_Mutation_p.D45G|ABTB1_ENST00000393363.3_Missense_Mutation_p.D45G	p.D45G			Q969K4	ABTB1_HUMAN			6	750	+			187						Missense_Mutation	SNP	ENST00000232744.8	37	c.134A>G	CCDS3045.1	.	.	.	.	.	.	.	.	.	.	A	21.0	4.084071	0.76642	.	.	ENSG00000114626	ENST00000393363;ENST00000232744;ENST00000453791;ENST00000468137	T;T;T;T	0.70869	-0.52;-0.52;-0.52;-0.52	4.8	4.8	0.61643	BTB/POZ-like (1);BTB/POZ (1);BTB/POZ fold (2);	0.050966	0.85682	D	0.000000	T	0.79375	0.4435	L	0.58810	1.83	0.80722	D	1	D;D	0.67145	0.996;0.986	D;P	0.67725	0.953;0.84	T	0.77814	-0.2448	10	0.32370	T	0.25	-7.7769	14.01	0.64490	1.0:0.0:0.0:0.0	.	187;162	Q969K4;Q969K4-3	ABTB1_HUMAN;.	G	45;187;45;45	ENSP00000377030:D45G;ENSP00000232744:D187G;ENSP00000412684:D45G;ENSP00000417366:D45G	ENSP00000232744:D187G	D	+	2	0	ABTB1	128878533	1.000000	0.71417	0.996000	0.52242	0.626000	0.37791	6.913000	0.75759	1.799000	0.52666	0.482000	0.46254	GAC		0.622	ABTB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356595.1	NM_172027		10	10	0	0	0	1	0	10	10					G	127395843	A	G	127395843	3	3	435	1	0	0	0	0	1	0	0	0	102	275	10	4	586	4	ABTB1	3	127395843	Missense_Mutation	SNP	A	TCGA-XK-AAIW-01A-11D-A41K-08	7827	127395843	70626587	2031	22956											
KBTBD12	166348	broad.mit.edu	37	chr3	127682079	127682079	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agggccaggttcgaaaatgcCttgacgtggtggagatctac	10	9	14	8	2	1	2	0	1	1	1	2	4	1	2	2	4	2	1	2	4	3	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:127682079C>A	ENST00000405109.1	+	5	2007	c.1540C>A	c.(1540-1542)Ctt>Att	p.L514I	KBTBD12_ENST00000405256.1_Missense_Mutation_p.L514I|RNA5SP139_ENST00000364340.1_RNA|KBTBD12_ENST00000492025.1_3'UTR|KBTBD12_ENST00000343941.4_Missense_Mutation_p.L89I|KBTBD12_ENST00000407609.3_Missense_Mutation_p.L121I			Q3ZCT8	KBTBC_HUMAN	kelch repeat and BTB (POZ) domain containing 12	514										endometrium(1)|large_intestine(6)|lung(5)|ovary(1)	13						TCGAAAATGCCTTGACGTGGT	0.522																																						ENST00000405109.1																			0				endometrium(1)|large_intestine(6)|lung(5)|ovary(1)	13						c.(1540-1542)Ctt>Att		kelch repeat and BTB (POZ) domain containing 12							79	69	72					3																	127682079		2203	4300	6503	SO:0001583	missense	166348							g.chr3:127682079C>A		CCDS33848.2	3q21.3	2013-01-08	2009-10-01	2009-10-01	ENSG00000187715	ENSG00000187715		"BTB/POZ domain containing"	25731	protein-coding gene	gene with protein product			"kelch domain containing 6"	KLHDC6			Standard	NM_207335		Approved	FLJ46299	uc010hsr.3	Q3ZCT8	OTTHUMG00000150508	ENST00000405109.1:c.1540C>A	3.37:g.127682079C>A	ENSP00000385957:p.Leu514Ile					KBTBD12_ENST00000407609.3_Missense_Mutation_p.L121I|KBTBD12_ENST00000492025.1_3'UTR|KBTBD12_ENST00000343941.4_Missense_Mutation_p.L89I|KBTBD12_ENST00000405256.1_Missense_Mutation_p.L514I	p.L514I			Q3ZCT8	KBTBC_HUMAN			5	2007	+			514					B5MCC6|Q6ZRK1	Missense_Mutation	SNP	ENST00000405109.1	37	c.1540C>A	CCDS33848.2	.	.	.	.	.	.	.	.	.	.	C	31	5.085246	0.94100	.	.	ENSG00000187715	ENST00000405109;ENST00000407609;ENST00000405256;ENST00000343941	T;T;T;T	0.71461	-0.4;-0.4;-0.4;-0.57	5.27	5.27	0.74061	Kelch-type beta propeller (1);	0.000000	0.51477	D	0.000088	D	0.82646	0.5082	L	0.58428	1.81	0.80722	D	1	D;D	0.89917	1.0;0.998	D;D	0.87578	0.998;0.996	D	0.84284	0.0496	10	0.87932	D	0	.	18.8943	0.92417	0.0:1.0:0.0:0.0	.	514;89	Q3ZCT8;Q3ZCT8-2	KBTBC_HUMAN;.	I	514;121;514;89	ENSP00000385957:L514I;ENSP00000385830:L121I;ENSP00000385879:L514I;ENSP00000345478:L89I	ENSP00000345478:L89I	L	+	1	0	KBTBD12	129164769	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	7.453000	0.80700	2.462000	0.83206	0.491000	0.48974	CTT		0.522	KBTBD12-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318682.1	NM_207335		5	9	1	0	3.59834e-05	1	3.7043e-05	5	9					A	127682079	C	A	127682079	3	1	435	1	0	0	0	0	1	0	0	0	7991	681	24	5	1554	5	KBTBD12	3	127682079	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	286236	127682079	70340351	2032	22957											
EEFSEC	60678	broad.mit.edu	37	chr3	127872522	127872522	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgggcttctcgtgcttctcgGtgccgctgcccgcgcgcctg	0	11	14	16	6	2	0	0	0	2	0	4	0	2	0	3	2	3	3	3	2	0	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:127872522G>A	ENST00000254730.6	+	1	226	c.172G>A	c.(172-174)Gtg>Atg	p.V58M	EEFSEC_ENST00000483457.1_Missense_Mutation_p.V58M|RUVBL1_ENST00000464873.1_5'UTR	NM_021937.3	NP_068756.2	P57772	SELB_HUMAN	eukaryotic elongation factor, selenocysteine-tRNA-specific	58	tr-type G. {ECO:0000255|PROSITE- ProRule:PRU01059}.				selenocysteine incorporation (GO:0001514)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|ribonucleoprotein complex binding (GO:0043021)|selenocysteine insertion sequence binding (GO:0035368)|translation elongation factor activity (GO:0003746)|tRNA binding (GO:0000049)			NS(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(10)|ovary(1)	25						GTGCTTCTCGGTGCCGCTGCC	0.711																																						ENST00000254730.6																			0				NS(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(10)|ovary(1)	25						c.(172-174)Gtg>Atg		eukaryotic elongation factor, selenocysteine-tRNA-specific							9	12	11					3																	127872522		2181	4252	6433	SO:0001583	missense	60678					cytoplasm|nucleus	GTP binding|GTPase activity|translation elongation factor activity	g.chr3:127872522G>A		CCDS33849.1	3q21.3	2007-05-25			ENSG00000132394	ENSG00000132394			24614	protein-coding gene	gene with protein product	"elongation factor for selenoprotein translation"	607695				10970870, 15229221	Standard	XM_005247696		Approved	SELB, EFSEC	uc003eki.3	P57772	OTTHUMG00000159659	ENST00000254730.6:c.172G>A	3.37:g.127872522G>A	ENSP00000254730:p.Val58Met					RUVBL1_ENST00000464873.1_5'UTR|EEFSEC_ENST00000483457.1_Missense_Mutation_p.V58M	p.V58M	NM_021937.3	NP_068756.2	P57772	SELB_HUMAN			1	226	+			58					Q96HZ6	Missense_Mutation	SNP	ENST00000254730.6	37	c.172G>A	CCDS33849.1	.	.	.	.	.	.	.	.	.	.	G	25.2	4.615593	0.87359	.	.	ENSG00000132394	ENST00000254730;ENST00000483457	T;T	0.44083	0.93;0.93	4.26	4.26	0.50523	Protein synthesis factor, GTP-binding (1);	0.136134	0.48286	D	0.000188	T	0.59280	0.2182	M	0.73598	2.24	0.50813	D	0.999897	P;D	0.56968	0.749;0.978	P;D	0.67900	0.559;0.954	T	0.62445	-0.6853	10	0.72032	D	0.01	-8.1906	8.9668	0.35881	0.1451:0.0:0.8549:0.0	.	58;58	C9J8T0;P57772	.;SELB_HUMAN	M	58	ENSP00000254730:V58M;ENSP00000417660:V58M	ENSP00000254730:V58M	V	+	1	0	EEFSEC	129355212	0.996000	0.38824	0.998000	0.56505	0.998000	0.95712	4.238000	0.58688	2.364000	0.80123	0.585000	0.79938	GTG		0.711	EEFSEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356738.2	NM_021937		3	8	0	0	0	1	0	3	8					A	127872522	G	A	127872522	3	1	435	1	0	0	0	0	1	0	0	0	4931	1261	44	3	174	3	EEFSEC	3	127872522	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	190443	127872522	70149908	2033	22958											
DNAJB8	165721	broad.mit.edu	37	chr3	128181497	128181497	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgcccgttctccacgatgcGcttggtggtgaccttgtggc	3	12	13	13	3	1	1	0	1	1	0	2	2	1	1	3	3	2	2	3	3	0	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:128181497G>A	ENST00000469083.1	-	2	3149	c.592C>T	c.(592-594)Cgc>Tgc	p.R198C	DNAJB8-AS1_ENST00000471626.1_RNA|DNAJB8_ENST00000319153.3_Missense_Mutation_p.R198C			Q8NHS0	DNJB8_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 8	198					chaperone-mediated protein folding (GO:0061077)|negative regulation of inclusion body assembly (GO:0090084)	cytosol (GO:0005829)|nucleus (GO:0005634)	chaperone binding (GO:0051087)|protein binding involved in protein folding (GO:0044183)|unfolded protein binding (GO:0051082)	p.R198C(1)		kidney(1)|large_intestine(4)|lung(4)|prostate(1)|skin(1)	11				GBM - Glioblastoma multiforme(114;0.177)		TCCACGATGCGCTTGGTGGTG	0.602																																						ENST00000469083.1																			1	Substitution - Missense(1)	p.R198C(1)	kidney(1)	kidney(1)|large_intestine(4)|lung(4)|prostate(1)|skin(1)	11						c.(592-594)Cgc>Tgc		DnaJ (Hsp40) homolog, subfamily B, member 8							154	125	134					3																	128181497		2203	4300	6503	SO:0001583	missense	165721				protein folding		heat shock protein binding|unfolded protein binding	g.chr3:128181497G>A		CCDS3048.1	3q21.3	2014-01-21			ENSG00000179407	ENSG00000179407		"Heat shock proteins / DNAJ (HSP40)"	23699	protein-coding gene	gene with protein product		611337					Standard	NM_153330		Approved	MGC33884, CT156	uc003ekk.2	Q8NHS0	OTTHUMG00000159690	ENST00000469083.1:c.592C>T	3.37:g.128181497G>A	ENSP00000417418:p.Arg198Cys					DNAJB8_ENST00000319153.3_Missense_Mutation_p.R198C	p.R198C			Q8NHS0	DNJB8_HUMAN		GBM - Glioblastoma multiforme(114;0.177)	2	3149	-			198					B3KWV7	Missense_Mutation	SNP	ENST00000469083.1	37	c.592C>T	CCDS3048.1	.	.	.	.	.	.	.	.	.	.	G	12.98	2.101449	0.37048	.	.	ENSG00000179407	ENST00000469083;ENST00000319153	T;T	0.49432	0.78;0.78	4.75	1.68	0.24146	.	0.131699	0.47455	D	0.000229	T	0.65709	0.2717	M	0.88640	2.97	0.80722	D	1	D	0.89917	1.0	P	0.57324	0.818	T	0.72181	-0.4368	10	0.87932	D	0	.	11.8136	0.52195	0.0:0.0:0.3542:0.6457	.	198	Q8NHS0	DNJB8_HUMAN	C	198	ENSP00000417418:R198C;ENSP00000316053:R198C	ENSP00000316053:R198C	R	-	1	0	DNAJB8	129664187	1.000000	0.71417	0.996000	0.52242	0.084000	0.17831	4.227000	0.58612	0.399000	0.25367	-0.310000	0.09108	CGC		0.602	DNAJB8-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356933.1	NM_153330		26	37	0	0	0	1	0	26	37					A	128181497	G	A	128181497	3	1	435	1	0	0	0	0	1	0	0	0	4626	1087	38	1	110	1	DNAJB8	3	128181497	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	308975	128181497	69840933	2034	22959											
KIAA1257	57501	broad.mit.edu	37	chr3	128712142	128712142	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcccactcccaggcatgtagCgacatgctgcagagcgcact	9	7	10	15	2	0	1	0	0	0	1	2	2	2	1	2	1	4	5	2	1	1	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:128712142C>T	ENST00000265068.5	-	2	173	c.6G>A	c.(4-6)tcG>tcA	p.S2S	KIAA1257_ENST00000515659.1_5'Flank|KIAA1257_ENST00000511438.1_Silent_p.S2S|KIAA1257_ENST00000510149.1_Intron	NM_020741.2	NP_065792.1	Q9ULG3	K1257_HUMAN	KIAA1257	2										breast(1)|endometrium(2)|large_intestine(3)|lung(6)|skin(2)	14						AGGCATGTAGCGACATGCTGC	0.617																																						ENST00000265068.5																			0				breast(1)|endometrium(2)|large_intestine(3)|lung(6)|skin(2)	14						c.(4-6)tcG>tcA		KIAA1257							18	20	20					3																	128712142		2067	4211	6278	SO:0001819	synonymous_variant	57501							g.chr3:128712142C>T	AB033083	CCDS46905.1	3q21.3	2011-11-07			ENSG00000114656	ENSG00000114656			29231	protein-coding gene	gene with protein product						10574462	Standard	NM_020741		Approved		uc003elj.4	Q9ULG3	OTTHUMG00000159946	ENST00000265068.5:c.6G>A	3.37:g.128712142C>T						KIAA1257_ENST00000510149.1_Intron|KIAA1257_ENST00000511438.1_Silent_p.S2S	p.S2S	NM_020741.2	NP_065792.1	Q9ULG3	K1257_HUMAN			2	173	-			2					Q8IXY7|Q8N5T4	Silent	SNP	ENST00000265068.5	37	c.6G>A	CCDS46905.1																																																																																				0.617	KIAA1257-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000358430.1	NM_020741		4	11	0	0	0	1	0	4	11					T	128712142	C	T	128712142	2	4	435	1	0	0	0	0	0	0	0	1	8218	755	27	1		1	KIAA1257	3	128712142	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	530645	128712142	69310288	2035	22960											
CNBP	7555	broad.mit.edu	37	chr3	128890476	128890476	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tttttctattcgacaaaataCctctatccgaggtaaaacca	14	13	4	10	2	2	0	0	0	2	0	4	2	3	0	3	1	2	1	3	1	7	7			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:128890476C>A	ENST00000422453.2	-	2	285		c.e2+1		CNBP_ENST00000502976.1_Intron|CNBP_ENST00000451728.2_Splice_Site|CNBP_ENST00000446936.2_Intron|CNBP_ENST00000441626.2_Splice_Site|CNBP_ENST00000504813.1_Splice_Site|CNBP_ENST00000500450.2_Intron	NM_001127192.1|NM_001127193.1|NM_003418.4	NP_001120664.1|NP_001120665.1|NP_003409.1	P62633	CNBP_HUMAN	CCHC-type zinc finger, nucleic acid binding protein						cholesterol biosynthetic process (GO:0006695)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|single-stranded RNA binding (GO:0003727)|zinc ion binding (GO:0008270)			biliary_tract(1)|endometrium(1)|kidney(1)|lung(2)	5						CGACAAAATACCTCTATCCGA	0.468																																						ENST00000422453.2																			0				biliary_tract(1)|endometrium(1)|kidney(1)|lung(2)	5						c.e2+1		CCHC-type zinc finger, nucleic acid binding protein							56	56	56					3																	128890476		2203	4300	6503	SO:0001630	splice_region_variant	7555				cholesterol biosynthetic process	endoplasmic reticulum	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr3:128890476C>A	U19765	CCDS3056.1, CCDS46906.1, CCDS46907.1, CCDS46908.1, CCDS54637.1	3q21	2013-01-09	2006-06-29	2006-06-29				"RING-type (C3HC4) zinc fingers", "Zinc fingers, CCHC domain containing"	13164	protein-coding gene	gene with protein product		116955	"zinc finger protein 9 (a cellular retroviral nucleic acid binding protein)", "zinc finger protein 9"	DM2, ZNF9		2249857, 11486088	Standard	NM_003418		Approved	RNF163, ZCCHC22, CNBP1	uc021xdw.1	P62633		ENST00000422453.2:c.124+1G>T	3.37:g.128890476C>A						CNBP_ENST00000500450.2_Intron|CNBP_ENST00000502976.1_Intron|CNBP_ENST00000451728.2_Splice_Site|CNBP_ENST00000441626.2_Splice_Site|CNBP_ENST00000504813.1_Splice_Site|CNBP_ENST00000446936.2_Intron		NM_001127192.1|NM_001127193.1|NM_003418.4	NP_001120664.1|NP_001120665.1|NP_003409.1	P62633	CNBP_HUMAN			2	285	-								A8K7V4|B2RAV9|B4DP17|D3DNB9|D3DNC0|D3DNC1|E9PDR7|P20694|Q4JGY0|Q4JGY1|Q5QJR0|Q5U0E9|Q6PJI7|Q96NV3	Splice_Site	SNP	ENST00000422453.2	37		CCDS3056.1	.	.	.	.	.	.	.	.	.	.	C	19.11	3.764614	0.69878	.	.	ENSG00000169714	ENST00000422453;ENST00000451728;ENST00000504813;ENST00000441626	.	.	.	6.08	6.08	0.98989	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.1659	0.89727	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CNBP	130373166	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	1.116000	0.31221	2.894000	0.99253	0.591000	0.81541	.		0.468	CNBP-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000358419.1	NM_003418	Intron	5	37	1	0	0.014758	1	0.0148771	5	37					A	128890476	C	A	128890476	5	1	435	1	0	0	0	0	0	0	1	0	3592	521	18	5	430	5	CNBP	3	128890476	Splice_Site	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	178334	128890476	69131954	2036	22961											
COPG	22820	broad.mit.edu	37	chr3	128971754	128971754	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atgtgctacttgaccatcaaGgagatgtcttgcattgcaga	11	12	10	8	0	2	3	1	1	1	2	2	4	2	3	1	1	4	3	1	1	2	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:128971754G>T	ENST00000314797.6	+	5	383	c.279G>T	c.(277-279)aaG>aaT	p.K93N		NM_016128.3	NP_057212.1	Q9Y678	COPG1_HUMAN	coatomer protein complex, subunit gamma 1	93					COPI coating of Golgi vesicle (GO:0048205)|establishment of Golgi localization (GO:0051683)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|organelle transport along microtubule (GO:0072384)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	COPI vesicle coat (GO:0030126)|cytosol (GO:0005829)|Golgi membrane (GO:0000139)	structural molecule activity (GO:0005198)										TGACCATCAAGGAGATGTCTT	0.532																																						ENST00000314797.6																			0											c.(277-279)aaG>aaT		coatomer protein complex, subunit gamma 1							189	162	171					3																	128971754		2203	4300	6503	SO:0001583	missense	22820				COPI coating of Golgi vesicle|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol	protein binding|structural molecule activity	g.chr3:128971754G>T	AB047846	CCDS33851.1	3q21.3	2012-02-23	2012-02-23	2012-02-23	ENSG00000181789	ENSG00000181789			2236	protein-coding gene	gene with protein product	"coat protein gamma-cop"	615525	"coatomer protein complex, subunit gamma"	COPG		11056392	Standard	NM_016128		Approved		uc003els.3	Q9Y678	OTTHUMG00000159451	ENST00000314797.6:c.279G>T	3.37:g.128971754G>T	ENSP00000325002:p.Lys93Asn						p.K93N	NM_016128.3	NP_057212.1	Q9Y678	COPG_HUMAN			5	383	+			93					A8K6M8|B3KMF6|Q54AC4	Missense_Mutation	SNP	ENST00000314797.6	37	c.279G>T	CCDS33851.1	.	.	.	.	.	.	.	.	.	.	G	19.94	3.920745	0.73213	.	.	ENSG00000181789	ENST00000314797	T	0.27402	1.67	5.07	3.27	0.37495	Clathrin/coatomer adaptor, adaptin-like, N-terminal (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.58495	0.2126	M	0.89658	3.05	0.52099	D	0.999944	D	0.62365	0.991	D	0.76071	0.987	T	0.60969	-0.7157	10	0.59425	D	0.04	-4.6629	9.4329	0.38622	0.1747:0.0:0.8253:0.0	.	93	Q9Y678	COPG_HUMAN	N	93	ENSP00000325002:K93N	ENSP00000325002:K93N	K	+	3	2	COPG	130454444	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.782000	0.38654	0.554000	0.29061	0.491000	0.48974	AAG		0.532	COPG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355456.1	NM_016128		38	47	1	0	1.30998e-17	1	1.4425e-17	38	47					T	128971754	G	T	128971754	3	4	435	1	0	0	0	0	1	0	0	0	3731	991	35	5	297	5	COPG	3	128971754	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	81278	128971754	69050676	2037	22962											
COPG	22820	broad.mit.edu	37	chr3	128979598	128979598	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcgagagcagcatcgaccGcctcatgaagcagatctcct	11	6	10	14	3	2	3	1	1	1	2	4	5	2	3	3	0	4	3	3	0	1	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:128979598G>A	ENST00000314797.6	+	12	1180	c.1076G>A	c.(1075-1077)cGc>cAc	p.R359H		NM_016128.3	NP_057212.1	Q9Y678	COPG1_HUMAN	coatomer protein complex, subunit gamma 1	359					COPI coating of Golgi vesicle (GO:0048205)|establishment of Golgi localization (GO:0051683)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|organelle transport along microtubule (GO:0072384)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	COPI vesicle coat (GO:0030126)|cytosol (GO:0005829)|Golgi membrane (GO:0000139)	structural molecule activity (GO:0005198)										AGCATCGACCGCCTCATGAAG	0.562																																						ENST00000314797.6																			0											c.(1075-1077)cGc>cAc		coatomer protein complex, subunit gamma 1							96	87	90					3																	128979598		2203	4300	6503	SO:0001583	missense	22820				COPI coating of Golgi vesicle|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol	protein binding|structural molecule activity	g.chr3:128979598G>A	AB047846	CCDS33851.1	3q21.3	2012-02-23	2012-02-23	2012-02-23	ENSG00000181789	ENSG00000181789			2236	protein-coding gene	gene with protein product	"coat protein gamma-cop"	615525	"coatomer protein complex, subunit gamma"	COPG		11056392	Standard	NM_016128		Approved		uc003els.3	Q9Y678	OTTHUMG00000159451	ENST00000314797.6:c.1076G>A	3.37:g.128979598G>A	ENSP00000325002:p.Arg359His						p.R359H	NM_016128.3	NP_057212.1	Q9Y678	COPG_HUMAN			12	1180	+			359					A8K6M8|B3KMF6|Q54AC4	Missense_Mutation	SNP	ENST00000314797.6	37	c.1076G>A	CCDS33851.1	.	.	.	.	.	.	.	.	.	.	G	19.21	3.784014	0.70222	.	.	ENSG00000181789	ENST00000314797	T	0.27104	1.69	6.01	5.12	0.69794	Clathrin/coatomer adaptor, adaptin-like, N-terminal (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.077604	0.50627	D	0.000108	T	0.41465	0.1160	M	0.88979	2.995	0.46586	D	0.999115	P	0.41041	0.736	B	0.41860	0.368	T	0.52711	-0.8539	10	0.87932	D	0	-5.8937	14.2189	0.65812	0.0:0.0:0.8409:0.1591	.	359	Q9Y678	COPG_HUMAN	H	359	ENSP00000325002:R359H	ENSP00000325002:R359H	R	+	2	0	COPG	130462288	1.000000	0.71417	0.580000	0.28601	0.129000	0.20672	9.607000	0.98328	1.524000	0.49035	0.558000	0.71614	CGC		0.562	COPG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355456.1	NM_016128		13	27	0	0	0	1	0	13	27					A	128979598	G	A	128979598	3	1	435	1	0	0	0	0	1	0	0	0	3731	1087	38	1	1122	1	COPG	3	128979598	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	7844	128979598	69042832	2038	22963											
IFT122	55764	broad.mit.edu	37	chr3	129188250	129188250	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtttccttctaccagctgaGtggaaaacaggtatgtagcc	11	11	10	9	0	1	1	0	1	1	0	2	2	2	2	3	2	4	4	3	2	5	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:129188250G>A	ENST00000348417.2	+	9	883	c.806G>A	c.(805-807)aGt>aAt	p.S269N	IFT122_ENST00000440957.2_Missense_Mutation_p.S60N|IFT122_ENST00000349441.2_Missense_Mutation_p.S158N|IFT122_ENST00000431818.2_Missense_Mutation_p.S119N|IFT122_ENST00000507564.1_Missense_Mutation_p.S261N|IFT122_ENST00000504021.1_Missense_Mutation_p.S163N|IFT122_ENST00000347300.2_Missense_Mutation_p.S210N|IFT122_ENST00000296266.3_Missense_Mutation_p.S320N	NM_052989.1	NP_443715.1	Q9HBG6	IF122_HUMAN	intraflagellar transport 122	269					camera-type eye morphogenesis (GO:0048593)|ciliary receptor clustering involved in smoothened signaling pathway (GO:0060830)|cilium morphogenesis (GO:0060271)|embryonic body morphogenesis (GO:0010172)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|embryonic heart tube development (GO:0035050)|embryonic heart tube left/right pattern formation (GO:0060971)|establishment of protein localization to organelle (GO:0072594)|intraciliary anterograde transport (GO:0035720)|intraciliary retrograde transport (GO:0035721)|limb development (GO:0060173)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of smoothened signaling pathway involved in ventral spinal cord patterning (GO:0021914)|neural tube closure (GO:0001843)|protein localization to cilium (GO:0061512)|signal transduction downstream of smoothened (GO:0007227)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)	ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|intraciliary transport particle A (GO:0030991)|membrane (GO:0016020)|photoreceptor connecting cilium (GO:0032391)|primary cilium (GO:0072372)				breast(3)|cervix(1)|endometrium(9)|large_intestine(10)|lung(21)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	52						TACCAGCTGAGTGGAAAACAG	0.388																																						ENST00000296266.3																			0				breast(3)|cervix(1)|endometrium(9)|large_intestine(10)|lung(21)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	52						c.(958-960)aGt>aAt		intraflagellar transport 122 homolog (Chlamydomonas)							129	127	128					3																	129188250		2203	4300	6503	SO:0001583	missense	55764				camera-type eye morphogenesis|cilium morphogenesis|embryonic body morphogenesis|embryonic heart tube development|limb development|neural tube closure	microtubule basal body|photoreceptor connecting cilium		g.chr3:129188250G>A	AF244930	CCDS3059.1, CCDS3060.1, CCDS3061.1, CCDS3062.1, CCDS63770.1, CCDS63772.1, CCDS63773.1	3q21	2014-07-03	2014-07-03	2005-11-02	ENSG00000163913	ENSG00000163913		"WD repeat domain containing", "Intraflagellar transport homologs"	13556	protein-coding gene	gene with protein product		606045	"WD repeat domain 10", "intraflagellar transport 122 homolog (Chlamydomonas)"	WDR10		11242542	Standard	NM_052985		Approved	WDR140, WDR10p, SPG	uc003emm.3	Q9HBG6	OTTHUMG00000159516	ENST00000348417.2:c.806G>A	3.37:g.129188250G>A	ENSP00000324005:p.Ser269Asn					IFT122_ENST00000349441.2_Missense_Mutation_p.S158N|IFT122_ENST00000347300.2_Missense_Mutation_p.S210N|IFT122_ENST00000348417.2_Missense_Mutation_p.S269N|IFT122_ENST00000440957.2_Missense_Mutation_p.S60N|IFT122_ENST00000504021.1_Missense_Mutation_p.S163N|IFT122_ENST00000507564.1_Missense_Mutation_p.S261N|IFT122_ENST00000431818.2_Missense_Mutation_p.S119N	p.S320N	NM_052985.2	NP_443711.2	Q9HBG6	IF122_HUMAN			10	1151	+			269					B3KW53|B4DEY9|B4DPW7|E7EQF4|E9PDG2|E9PDX2|G3XAB1|H7C3C0|Q53G36|Q8TC06|Q9BTB9|Q9BTY4|Q9HAT9|Q9HBG5|Q9NV68|Q9UF80	Missense_Mutation	SNP	ENST00000348417.2	37	c.959G>A	CCDS3061.1	.	.	.	.	.	.	.	.	.	.	G	17.02	3.280737	0.59758	.	.	ENSG00000163913	ENST00000347300;ENST00000296266;ENST00000507564;ENST00000454840;ENST00000431818;ENST00000504021;ENST00000349441;ENST00000348417;ENST00000446384;ENST00000440957;ENST00000511498	T;T;T;D;T;T;T;D;T	0.89939	-0.21;1.57;1.57;-2.59;1.61;1.61;-0.21;-2.59;2.24	5.88	5.88	0.94601	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.90191	0.6934	N	0.17082	0.46	0.80722	D	1	D;D;B;B;B;B;D;D	0.67145	0.996;0.985;0.196;0.046;0.046;0.044;0.993;0.996	D;D;B;B;B;B;D;D	0.75484	0.986;0.921;0.047;0.034;0.023;0.051;0.968;0.986	D	0.88980	0.3407	10	0.31617	T	0.26	-14.707	20.2422	0.98381	0.0:0.0:1.0:0.0	.	60;261;163;109;158;210;269;320	E9PDG2;E7EQF4;B4DEY9;B4DPW7;Q9BTY4;Q9HBG6-3;Q9HBG6;G3XAB1	.;.;.;.;.;.;IF122_HUMAN;.	N	210;320;261;210;119;163;158;269;109;60;60	ENSP00000323973:S210N;ENSP00000296266:S320N;ENSP00000425536:S261N;ENSP00000410946:S119N;ENSP00000422179:S163N;ENSP00000324165:S158N;ENSP00000324005:S269N;ENSP00000401569:S60N;ENSP00000422237:S60N	ENSP00000296266:S320N	S	+	2	0	IFT122	130670940	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.469000	0.97679	2.782000	0.95742	0.655000	0.94253	AGT		0.388	IFT122-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000355852.1	NM_018262		27	41	0	0	0	1	0	27	41					A	129188250	G	A	129188250	3	1	435	1	0	0	0	0	1	0	0	0	7555	1029	36	3	997	3	IFT122	3	129188250	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	208652	129188250	68834180	2039	22964											
IFT122	55764	broad.mit.edu	37	chr3	129214427	129214427	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcttgaaatgtacaccgacCtctgcatgtttgagtatgcc	9	12	9	11	2	1	2	0	2	1	0	1	3	1	2	3	0	3	5	3	0	3	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:129214427C>T	ENST00000348417.2	+	18	2262	c.2185C>T	c.(2185-2187)Ctc>Ttc	p.L729F	IFT122_ENST00000440957.2_Missense_Mutation_p.L520F|IFT122_ENST00000513932.1_3'UTR|IFT122_ENST00000349441.2_Missense_Mutation_p.L618F|IFT122_ENST00000431818.2_Missense_Mutation_p.L579F|IFT122_ENST00000507564.1_Missense_Mutation_p.L721F|IFT122_ENST00000504021.1_Missense_Mutation_p.L605F|IFT122_ENST00000347300.2_Missense_Mutation_p.L670F|IFT122_ENST00000296266.3_Missense_Mutation_p.L780F	NM_052989.1	NP_443715.1	Q9HBG6	IF122_HUMAN	intraflagellar transport 122	729					camera-type eye morphogenesis (GO:0048593)|ciliary receptor clustering involved in smoothened signaling pathway (GO:0060830)|cilium morphogenesis (GO:0060271)|embryonic body morphogenesis (GO:0010172)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|embryonic heart tube development (GO:0035050)|embryonic heart tube left/right pattern formation (GO:0060971)|establishment of protein localization to organelle (GO:0072594)|intraciliary anterograde transport (GO:0035720)|intraciliary retrograde transport (GO:0035721)|limb development (GO:0060173)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of smoothened signaling pathway involved in ventral spinal cord patterning (GO:0021914)|neural tube closure (GO:0001843)|protein localization to cilium (GO:0061512)|signal transduction downstream of smoothened (GO:0007227)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)	ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|intraciliary transport particle A (GO:0030991)|membrane (GO:0016020)|photoreceptor connecting cilium (GO:0032391)|primary cilium (GO:0072372)				breast(3)|cervix(1)|endometrium(9)|large_intestine(10)|lung(21)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	52						GTACACCGACCTCTGCATGTT	0.532																																						ENST00000296266.3																			0				breast(3)|cervix(1)|endometrium(9)|large_intestine(10)|lung(21)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	52						c.(2338-2340)Ctc>Ttc		intraflagellar transport 122 homolog (Chlamydomonas)							125	112	116					3																	129214427		2203	4300	6503	SO:0001583	missense	55764				camera-type eye morphogenesis|cilium morphogenesis|embryonic body morphogenesis|embryonic heart tube development|limb development|neural tube closure	microtubule basal body|photoreceptor connecting cilium		g.chr3:129214427C>T	AF244930	CCDS3059.1, CCDS3060.1, CCDS3061.1, CCDS3062.1, CCDS63770.1, CCDS63772.1, CCDS63773.1	3q21	2014-07-03	2014-07-03	2005-11-02	ENSG00000163913	ENSG00000163913		"WD repeat domain containing", "Intraflagellar transport homologs"	13556	protein-coding gene	gene with protein product		606045	"WD repeat domain 10", "intraflagellar transport 122 homolog (Chlamydomonas)"	WDR10		11242542	Standard	NM_052985		Approved	WDR140, WDR10p, SPG	uc003emm.3	Q9HBG6	OTTHUMG00000159516	ENST00000348417.2:c.2185C>T	3.37:g.129214427C>T	ENSP00000324005:p.Leu729Phe					IFT122_ENST00000349441.2_Missense_Mutation_p.L618F|IFT122_ENST00000347300.2_Missense_Mutation_p.L670F|IFT122_ENST00000348417.2_Missense_Mutation_p.L729F|IFT122_ENST00000440957.2_Missense_Mutation_p.L520F|IFT122_ENST00000504021.1_Missense_Mutation_p.L605F|IFT122_ENST00000507564.1_Missense_Mutation_p.L721F|IFT122_ENST00000513932.1_3'UTR|IFT122_ENST00000431818.2_Missense_Mutation_p.L579F	p.L780F	NM_052985.2	NP_443711.2	Q9HBG6	IF122_HUMAN			19	2530	+			729					B3KW53|B4DEY9|B4DPW7|E7EQF4|E9PDG2|E9PDX2|G3XAB1|H7C3C0|Q53G36|Q8TC06|Q9BTB9|Q9BTY4|Q9HAT9|Q9HBG5|Q9NV68|Q9UF80	Missense_Mutation	SNP	ENST00000348417.2	37	c.2338C>T	CCDS3061.1	.	.	.	.	.	.	.	.	.	.	C	20.5	4.009061	0.75046	.	.	ENSG00000163913	ENST00000347300;ENST00000296266;ENST00000507564;ENST00000454840;ENST00000431818;ENST00000504021;ENST00000349441;ENST00000348417;ENST00000446384;ENST00000440957;ENST00000509522;ENST00000507221	D;D;D;D;T;D;D;D;T	0.89343	-2.5;-2.5;-2.5;-2.5;0.43;-2.5;-2.5;-2.5;0.55	5.29	5.29	0.74685	.	0.000000	0.85682	D	0.000000	D	0.95335	0.8486	M	0.92459	3.31	0.80722	D	1	D;D;D;D;D;D;D;D;D	0.89917	1.0;0.998;1.0;1.0;1.0;1.0;1.0;0.999;1.0	D;D;D;D;D;D;D;D;D	0.91635	0.997;0.99;0.999;0.997;0.997;0.997;0.999;0.994;0.997	D	0.95784	0.8819	10	0.87932	D	0	-20.3617	12.3004	0.54870	0.0:0.8776:0.0:0.1224	.	520;721;116;605;569;618;670;729;780	E9PDG2;E7EQF4;B3KT43;B4DEY9;B4DPW7;Q9BTY4;Q9HBG6-3;Q9HBG6;G3XAB1	.;.;.;.;.;.;.;IF122_HUMAN;.	F	670;780;721;670;579;605;618;729;569;520;226;91	ENSP00000323973:L670F;ENSP00000296266:L780F;ENSP00000425536:L721F;ENSP00000410946:L579F;ENSP00000422179:L605F;ENSP00000324165:L618F;ENSP00000324005:L729F;ENSP00000401569:L520F;ENSP00000424727:L226F	ENSP00000296266:L780F	L	+	1	0	IFT122	130697117	1.000000	0.71417	0.993000	0.49108	0.836000	0.47400	2.929000	0.48916	2.607000	0.88179	0.655000	0.94253	CTC		0.532	IFT122-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000355852.1	NM_018262		18	18	0	0	0	1	0	18	18					T	129214427	C	T	129214427	3	4	435	1	0	0	0	0	1	0	0	0	7555	681	24	3	2412	3	IFT122	3	129214427	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	26177	129214427	68808003	2040	22965											
IFT122	55764	broad.mit.edu	37	chr3	129218783	129218783	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaccccaaagaaacaaagatGctaatcaccaaacaggctga	19	4	7	11	0	1	3	1	1	0	2	1	4	1	3	3	1	3	2	3	1	5	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:129218783G>A	ENST00000348417.2	+	19	2324	c.2247G>A	c.(2245-2247)atG>atA	p.M749I	IFT122_ENST00000440957.2_Missense_Mutation_p.M540I|IFT122_ENST00000513932.1_3'UTR|IFT122_ENST00000349441.2_Missense_Mutation_p.M638I|IFT122_ENST00000431818.2_Missense_Mutation_p.M599I|IFT122_ENST00000507564.1_Missense_Mutation_p.M741I|IFT122_ENST00000504021.1_Missense_Mutation_p.M625I|IFT122_ENST00000347300.2_Missense_Mutation_p.M690I|IFT122_ENST00000296266.3_Missense_Mutation_p.M800I	NM_052989.1	NP_443715.1	Q9HBG6	IF122_HUMAN	intraflagellar transport 122	749					camera-type eye morphogenesis (GO:0048593)|ciliary receptor clustering involved in smoothened signaling pathway (GO:0060830)|cilium morphogenesis (GO:0060271)|embryonic body morphogenesis (GO:0010172)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|embryonic heart tube development (GO:0035050)|embryonic heart tube left/right pattern formation (GO:0060971)|establishment of protein localization to organelle (GO:0072594)|intraciliary anterograde transport (GO:0035720)|intraciliary retrograde transport (GO:0035721)|limb development (GO:0060173)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of smoothened signaling pathway involved in ventral spinal cord patterning (GO:0021914)|neural tube closure (GO:0001843)|protein localization to cilium (GO:0061512)|signal transduction downstream of smoothened (GO:0007227)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)	ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|intraciliary transport particle A (GO:0030991)|membrane (GO:0016020)|photoreceptor connecting cilium (GO:0032391)|primary cilium (GO:0072372)				breast(3)|cervix(1)|endometrium(9)|large_intestine(10)|lung(21)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	52						AAACAAAGATGCTAATCACCA	0.493																																						ENST00000296266.3																			0				breast(3)|cervix(1)|endometrium(9)|large_intestine(10)|lung(21)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	52						c.(2398-2400)atG>atA		intraflagellar transport 122 homolog (Chlamydomonas)							109	112	111					3																	129218783		2203	4300	6503	SO:0001583	missense	55764				camera-type eye morphogenesis|cilium morphogenesis|embryonic body morphogenesis|embryonic heart tube development|limb development|neural tube closure	microtubule basal body|photoreceptor connecting cilium		g.chr3:129218783G>A	AF244930	CCDS3059.1, CCDS3060.1, CCDS3061.1, CCDS3062.1, CCDS63770.1, CCDS63772.1, CCDS63773.1	3q21	2014-07-03	2014-07-03	2005-11-02	ENSG00000163913	ENSG00000163913		"WD repeat domain containing", "Intraflagellar transport homologs"	13556	protein-coding gene	gene with protein product		606045	"WD repeat domain 10", "intraflagellar transport 122 homolog (Chlamydomonas)"	WDR10		11242542	Standard	NM_052985		Approved	WDR140, WDR10p, SPG	uc003emm.3	Q9HBG6	OTTHUMG00000159516	ENST00000348417.2:c.2247G>A	3.37:g.129218783G>A	ENSP00000324005:p.Met749Ile					IFT122_ENST00000349441.2_Missense_Mutation_p.M638I|IFT122_ENST00000347300.2_Missense_Mutation_p.M690I|IFT122_ENST00000348417.2_Missense_Mutation_p.M749I|IFT122_ENST00000440957.2_Missense_Mutation_p.M540I|IFT122_ENST00000504021.1_Missense_Mutation_p.M625I|IFT122_ENST00000507564.1_Missense_Mutation_p.M741I|IFT122_ENST00000513932.1_3'UTR|IFT122_ENST00000431818.2_Missense_Mutation_p.M599I	p.M800I	NM_052985.2	NP_443711.2	Q9HBG6	IF122_HUMAN			20	2592	+			749					B3KW53|B4DEY9|B4DPW7|E7EQF4|E9PDG2|E9PDX2|G3XAB1|H7C3C0|Q53G36|Q8TC06|Q9BTB9|Q9BTY4|Q9HAT9|Q9HBG5|Q9NV68|Q9UF80	Missense_Mutation	SNP	ENST00000348417.2	37	c.2400G>A	CCDS3061.1	.	.	.	.	.	.	.	.	.	.	G	12.54	1.969771	0.34754	.	.	ENSG00000163913	ENST00000347300;ENST00000296266;ENST00000507564;ENST00000454840;ENST00000431818;ENST00000504021;ENST00000349441;ENST00000348417;ENST00000446384;ENST00000440957;ENST00000509522;ENST00000507221	T;T;T;T;T;T;T;T;T	0.60548	0.82;0.18;0.31;0.38;0.96;0.96;0.82;0.39;0.98	5.06	4.18	0.49190	.	0.193027	0.53938	D	0.000048	T	0.40171	0.1106	N	0.22421	0.69	0.45172	D	0.99818	B;B;B;B;B;B;B;B;B;B	0.13594	0.0;0.004;0.006;0.008;0.0;0.0;0.0;0.0;0.0;0.0	B;B;B;B;B;B;B;B;B;B	0.15052	0.001;0.012;0.004;0.012;0.0;0.001;0.002;0.002;0.001;0.001	T	0.28902	-1.0029	10	0.38643	T	0.18	-25.4898	8.7082	0.34367	0.0803:0.1528:0.7669:0.0	.	540;75;741;136;625;589;638;690;749;800	E9PDG2;B3KUD1;E7EQF4;B3KT43;B4DEY9;B4DPW7;Q9BTY4;Q9HBG6-3;Q9HBG6;G3XAB1	.;.;.;.;.;.;.;.;IF122_HUMAN;.	I	690;800;741;690;599;625;638;749;589;540;246;111	ENSP00000323973:M690I;ENSP00000296266:M800I;ENSP00000425536:M741I;ENSP00000410946:M599I;ENSP00000422179:M625I;ENSP00000324165:M638I;ENSP00000324005:M749I;ENSP00000401569:M540I;ENSP00000424727:M246I	ENSP00000296266:M800I	M	+	3	0	IFT122	130701473	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.435000	0.44811	2.338000	0.79540	0.655000	0.94253	ATG		0.493	IFT122-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000355852.1	NM_018262		39	41	0	0	0	1	0	39	41					A	129218783	G	A	129218783	3	1	435	1	0	0	0	0	1	0	0	0	7555	1319	46	3	2478	3	IFT122	3	129218783	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	4356	129218783	68803647	2041	22966											
RHO	6010	broad.mit.edu	37	chr3	129251457	129251457	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tggtcatcatcatggtcatcGctttcctgatctgctgggtg	5	15	11	10	1	5	1	4	1	1	0	7	1	6	1	1	3	1	2	1	3	0	1	rs150250946		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:129251457G>A	ENST00000296271.3	+	4	872	c.778G>A	c.(778-780)Gct>Act	p.A260T		NM_000539.3	NP_000530.1	P08100	OPSD_HUMAN	rhodopsin	260					G-protein coupled receptor signaling pathway (GO:0007186)|phototransduction, visible light (GO:0007603)|protein phosphorylation (GO:0006468)|protein-chromophore linkage (GO:0018298)|red, far-red light phototransduction (GO:0009585)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|retina development in camera-type eye (GO:0060041)|retinoid metabolic process (GO:0001523)|rhodopsin mediated signaling pathway (GO:0016056)|visual perception (GO:0007601)	cell-cell junction (GO:0005911)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|photoreceptor disc membrane (GO:0097381)|photoreceptor inner segment (GO:0001917)|photoreceptor inner segment membrane (GO:0060342)|photoreceptor outer segment (GO:0001750)|photoreceptor outer segment membrane (GO:0042622)|plasma membrane (GO:0005886)|rough endoplasmic reticulum membrane (GO:0030867)	G-protein coupled receptor activity (GO:0004930)|metal ion binding (GO:0046872)|photoreceptor activity (GO:0009881)|retinal binding (GO:0016918)	p.A260T(2)		breast(1)|endometrium(1)|large_intestine(10)|lung(6)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	22		all_neural(597;0.0227)|Myeloproliferative disorder(1037;0.0255)|Prostate(884;0.183)		GBM - Glioblastoma multiforme(114;2.58e-05)|Lung(219;0.0234)	Halothane(DB01159)	CATGGTCATCGCTTTCCTGAT	0.602																																					Esophageal Squamous(118;214 1623 30842 43234 46940)	ENST00000296271.3																			2	Substitution - Missense(2)	p.A260T(2)	large_intestine(1)|pancreas(1)	breast(1)|endometrium(1)|large_intestine(10)|lung(6)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	22						c.(778-780)Gct>Act		rhodopsin	Halothane(DB01159)	G	THR/ALA	0,4406		0,0,2203	227	163	185		778	4.6	0	3	dbSNP_134	185	2,8598	2.2+/-6.3	0,2,4298	no	missense	RHO	NM_000539.3	58	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	benign	260/349	129251457	2,13004	2203	4300	6503	SO:0001583	missense	6010				protein-chromophore linkage|rhodopsin mediated signaling pathway	Golgi apparatus|integral to plasma membrane|photoreceptor inner segment membrane|photoreceptor outer segment membrane	G-protein coupled receptor activity|metal ion binding|photoreceptor activity|protein binding	g.chr3:129251457G>A	AB065668	CCDS3063.1	3q21-q24	2014-01-28	2008-04-16		ENSG00000163914	ENSG00000163914		"GPCR / Class A : Opsin receptors"	10012	protein-coding gene	gene with protein product	"opsin 2, rod pigment"	180380	"retinitis pigmentosa 4, autosomal dominant"	RP4		2016091	Standard	NM_000539		Approved	OPN2, CSNBAD1	uc003emt.3	P08100	OTTHUMG00000159542	ENST00000296271.3:c.778G>A	3.37:g.129251457G>A	ENSP00000296271:p.Ala260Thr						p.A260T	NM_000539.3	NP_000530.1	P08100	OPSD_HUMAN		GBM - Glioblastoma multiforme(114;2.58e-05)|Lung(219;0.0234)	4	872	+		all_neural(597;0.0227)|Myeloproliferative disorder(1037;0.0255)|Prostate(884;0.183)	260					Q16414|Q2M249	Missense_Mutation	SNP	ENST00000296271.3	37	c.778G>A	CCDS3063.1	.	.	.	.	.	.	.	.	.	.	G	15.26	2.781297	0.49891	0.0	2.33E-4	ENSG00000163914	ENST00000296271	T	0.72394	-0.65	5.51	4.55	0.56014	GPCR, rhodopsin-like superfamily (1);	0.426739	0.26149	N	0.026057	T	0.69806	0.3152	M	0.85299	2.745	0.31181	N	0.702011	P	0.35656	0.514	B	0.22601	0.04	T	0.75662	-0.3240	10	0.87932	D	0	.	12.937	0.58320	0.0:0.0:0.4963:0.5037	.	260	P08100	OPSD_HUMAN	T	260	ENSP00000296271:A260T	ENSP00000296271:A260T	A	+	1	0	RHO	130734147	0.753000	0.28349	0.030000	0.17652	0.991000	0.79684	1.724000	0.38064	1.112000	0.41740	0.561000	0.74099	GCT		0.602	RHO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356101.1	NM_000539		17	22	0	0	0	1	0	17	22					A	129251457	G	A	129251457	3	1	435	1	0	0	0	0	1	0	0	0	13330	1087	38	1	792	1	RHO	3	129251457	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	32674	129251457	68770973	2042	22967											
PLXND1	23129	broad.mit.edu	37	chr3	129280710	129280710	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgaggtgtcgtccaggtccCgaaggatgtagctctgtgtg	6	11	15	9	2	1	1	0	1	1	0	4	3	3	2	2	3	1	2	2	3	2	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:129280710C>T	ENST00000324093.4	-	28	5040	c.4862G>A	c.(4861-4863)cGg>cAg	p.R1621Q	PLXND1_ENST00000393239.1_Missense_Mutation_p.R1621Q	NM_015103.2	NP_055918	Q9Y4D7	PLXD1_HUMAN	plexin D1	1621					angiogenesis (GO:0001525)|axon guidance (GO:0007411)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|endothelial cell migration (GO:0043542)|outflow tract morphogenesis (GO:0003151)|patterning of blood vessels (GO:0001569)|positive regulation of protein binding (GO:0032092)|regulation of angiogenesis (GO:0045765)|regulation of cell migration (GO:0030334)|semaphorin-plexin signaling pathway (GO:0071526)|synapse assembly (GO:0007416)	integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)	protein domain specific binding (GO:0019904)|semaphorin receptor activity (GO:0017154)		PLXND1/TMCC1(4)	NS(1)|breast(1)|endometrium(4)|kidney(5)|large_intestine(17)|lung(28)|prostate(10)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	72						GTCCAGGTCCCGAAGGATGTA	0.647																																					Ovarian(97;366 1484 3738 22084 39045)	ENST00000393239.1																		PLXND1/TMCC1(4)	0				NS(1)|breast(1)|endometrium(4)|kidney(5)|large_intestine(17)|lung(28)|prostate(10)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	72						c.(4861-4863)cGg>cAg		plexin D1							81	72	75					3																	129280710		2203	4300	6503	SO:0001583	missense	23129				axon guidance	integral to membrane|intracellular|plasma membrane		g.chr3:129280710C>T	AY116661	CCDS33854.1	3q21.3	2007-05-16			ENSG00000004399	ENSG00000004399		"Plexins"	9107	protein-coding gene	gene with protein product		604282				12412018	Standard	NM_015103		Approved	KIAA0620	uc003emx.2	Q9Y4D7	OTTHUMG00000159547	ENST00000324093.4:c.4862G>A	3.37:g.129280710C>T	ENSP00000317128:p.Arg1621Gln					PLXND1_ENST00000324093.4_Missense_Mutation_p.R1621Q	p.R1621Q			Q9Y4D7	PLXD1_HUMAN			28	5040	-			1621					A7E2C6|C9JPZ6|Q6PJS9|Q8IZJ2|Q9BTQ2	Missense_Mutation	SNP	ENST00000324093.4	37	c.4862G>A	CCDS33854.1	.	.	.	.	.	.	.	.	.	.	C	8.724	0.915153	0.17907	.	.	ENSG00000004399	ENST00000324093;ENST00000393239	T;T	0.10960	2.82;2.82	5.0	5.0	0.66597	Plexin, cytoplasmic RasGAP domain (1);Rho GTPase activation protein (1);	0.175996	0.41001	D	0.000976	T	0.02767	0.0083	N	0.01152	-0.98	0.45439	D	0.998414	B;D	0.53151	0.267;0.958	B;B	0.32211	0.007;0.142	T	0.48980	-0.8986	10	0.02654	T	1	.	18.3082	0.90189	0.0:1.0:0.0:0.0	.	216;1621	B4DRU3;Q9Y4D7	.;PLXD1_HUMAN	Q	1621	ENSP00000317128:R1621Q;ENSP00000376931:R1621Q	ENSP00000317128:R1621Q	R	-	2	0	PLXND1	130763400	1.000000	0.71417	0.999000	0.59377	0.813000	0.45954	2.900000	0.48687	2.315000	0.78130	0.462000	0.41574	CGG		0.647	PLXND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356132.4	NM_015103		20	27	0	0	0	1	0	20	27					T	129280710	C	T	129280710	3	4	435	1	0	0	0	0	1	0	0	0	12127	652	23	2	951	2	PLXND1	3	129280710	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	29253	129280710	68741720	2043	22968											
PIK3R4	30849	broad.mit.edu	37	chr3	130424583	130424583	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cttaaaaccggtattactggTtttttattttggacagttgt	9	19	8	5	1	0	0	0	0	0	0	0	1	0	1	1	3	2	3	1	3	5	9			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:130424583T>G	ENST00000356763.3	-	12	3311	c.2754A>C	c.(2752-2754)aaA>aaC	p.K918N		NM_014602.2	NP_055417.1	Q99570	PI3R4_HUMAN	phosphoinositide-3-kinase, regulatory subunit 4	918					innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|protein phosphorylation (GO:0006468)|small molecule metabolic process (GO:0044281)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	axoneme (GO:0005930)|cytosol (GO:0005829)|late endosome (GO:0005770)|membrane (GO:0016020)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(6)|large_intestine(16)|lung(28)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	77						GTATTACTGGTTTTTTATTTT	0.343																																						ENST00000356763.3																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(6)|large_intestine(16)|lung(28)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	77						c.(2752-2754)aaA>aaC		phosphoinositide-3-kinase, regulatory subunit 4							102	100	101					3																	130424583		2202	4300	6502	SO:0001583	missense	30849				fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway	cytosol	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr3:130424583T>G	Y08991	CCDS3067.1	3q22.1	2013-01-10	2008-02-04		ENSG00000196455	ENSG00000196455		"WD repeat domain containing"	8982	protein-coding gene	gene with protein product		602610				8999962	Standard	NM_014602		Approved	VPS15, p150	uc003enj.3	Q99570	OTTHUMG00000159645	ENST00000356763.3:c.2754A>C	3.37:g.130424583T>G	ENSP00000349205:p.Lys918Asn						p.K918N	NM_014602.2	NP_055417.1	Q99570	PI3R4_HUMAN			12	3311	-			918					Q2TBF4	Missense_Mutation	SNP	ENST00000356763.3	37	c.2754A>C	CCDS3067.1	.	.	.	.	.	.	.	.	.	.	T	11.30	1.597821	0.28445	.	.	ENSG00000196455	ENST00000356763	T	0.44881	0.91	5.64	-0.878	0.10617	.	0.089833	0.85682	D	0.000000	T	0.19046	0.0457	N	0.08118	0	0.33982	D	0.64811	B	0.31318	0.319	B	0.28916	0.096	T	0.24012	-1.0172	10	0.20519	T	0.43	-23.8172	12.0516	0.53509	0.0:0.4966:0.0:0.5034	.	918	Q99570	PI3R4_HUMAN	N	918	ENSP00000349205:K918N	ENSP00000349205:K918N	K	-	3	2	PIK3R4	131907273	0.981000	0.34729	0.727000	0.30756	0.383000	0.30230	0.009000	0.13219	-0.109000	0.12044	0.533000	0.62120	AAA		0.343	PIK3R4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356668.1	NM_014602		28	22	0	0	0	1	0	28	22					G	130424583	T	G	130424583	3	3	435	1	0	0	0	0	1	0	0	0	11921	1722	60	5	1358	5	PIK3R4	3	130424583	Missense_Mutation	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	1143873	130424583	67597847	2044	22969											
PIK3R4	30849	broad.mit.edu	37	chr3	130463754	130463754	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	agattgtctcgcacatactgCctaaagagcatagctgcttt	11	12	8	10	1	1	2	0	0	1	2	2	2	1	2	1	0	5	4	1	0	4	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:130463754C>T	ENST00000356763.3	-	2	866	c.309G>A	c.(307-309)agG>agA	p.R103R		NM_014602.2	NP_055417.1	Q99570	PI3R4_HUMAN	phosphoinositide-3-kinase, regulatory subunit 4	103	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|protein phosphorylation (GO:0006468)|small molecule metabolic process (GO:0044281)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	axoneme (GO:0005930)|cytosol (GO:0005829)|late endosome (GO:0005770)|membrane (GO:0016020)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(6)|large_intestine(16)|lung(28)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	77						GCACATACTGCCTAAAGAGCA	0.443																																						ENST00000356763.3																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(6)|large_intestine(16)|lung(28)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	77						c.(307-309)agG>agA		phosphoinositide-3-kinase, regulatory subunit 4							136	124	128					3																	130463754		2203	4300	6503	SO:0001819	synonymous_variant	30849				fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway	cytosol	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr3:130463754C>T	Y08991	CCDS3067.1	3q22.1	2013-01-10	2008-02-04		ENSG00000196455	ENSG00000196455		"WD repeat domain containing"	8982	protein-coding gene	gene with protein product		602610				8999962	Standard	NM_014602		Approved	VPS15, p150	uc003enj.3	Q99570	OTTHUMG00000159645	ENST00000356763.3:c.309G>A	3.37:g.130463754C>T							p.R103R	NM_014602.2	NP_055417.1	Q99570	PI3R4_HUMAN			2	866	-			103			Protein kinase.		Q2TBF4	Silent	SNP	ENST00000356763.3	37	c.309G>A	CCDS3067.1																																																																																				0.443	PIK3R4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356668.1	NM_014602		32	55	0	0	0	1	0	32	55					T	130463754	C	T	130463754	2	4	435	1	0	0	0	0	0	0	0	1	11921	738	26	3		3	PIK3R4	3	130463754	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	39171	130463754	67558676	2045	22970											
ASTE1	28990	broad.mit.edu	37	chr3	130737469	130737469	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	agtagcaactgacagcaatgGgcaacttcagtgaagtaggg	14	7	13	7	0	1	2	1	2	0	0	1	2	1	2	0	2	4	5	0	2	6	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:130737469G>T	ENST00000264992.3	-	4	1835	c.1394C>A	c.(1393-1395)cCc>cAc	p.P465H	ASTE1_ENST00000514044.1_Missense_Mutation_p.P465H	NM_014065.2	NP_054784.2	Q2TB18	ASTE1_HUMAN	asteroid homolog 1 (Drosophila)	465					DNA repair (GO:0006281)		nuclease activity (GO:0004518)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)	22						GACAGCAATGGGCAACTTCAG	0.483																																						ENST00000264992.3																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)	22						c.(1393-1395)cCc>cAc		asteroid homolog 1 (Drosophila)							189	174	179					3																	130737469		2203	4300	6503	SO:0001583	missense	28990				DNA repair		nuclease activity	g.chr3:130737469G>T	AF113539	CCDS3068.1, CCDS75007.1	3q21.3	2005-11-17			ENSG00000034533	ENSG00000034533			25021	protein-coding gene	gene with protein product							Standard	NM_014065		Approved	HT001	uc003env.1	Q2TB18	OTTHUMG00000159644	ENST00000264992.3:c.1394C>A	3.37:g.130737469G>T	ENSP00000264992:p.Pro465His					ASTE1_ENST00000514044.1_Missense_Mutation_p.P465H	p.P465H	NM_014065.2	NP_054784.2	Q2TB18	ASTE1_HUMAN			4	1835	-			465					B4DFL9|Q3MIB6|Q8N6G4|Q96JY1|Q9UHX6	Missense_Mutation	SNP	ENST00000264992.3	37	c.1394C>A	CCDS3068.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.02|15.02	2.708939|2.708939	0.48517|0.48517	.|.	.|.	ENSG00000034533|ENSG00000034533	ENST00000514044;ENST00000264992|ENST00000505290	.|.	.|.	.|.	5.72|5.72	4.85|4.85	0.62838|0.62838	.|.	0.105095|0.105095	0.64402|0.64402	D|D	0.000004|0.000004	T|T	0.72819|0.72819	0.3508|0.3508	M|M	0.70595|0.70595	2.14|2.14	0.42913|0.42913	D|D	0.994261|0.994261	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.71184|.	0.972;0.972|.	T|T	0.73924|0.73924	-0.3829|-0.3829	9|7	0.87932|0.42905	D|T	0|0.14	-12.139|-12.139	14.5574|14.5574	0.68109|0.68109	0.0708:0.0:0.9292:0.0|0.0708:0.0:0.9292:0.0	.|.	465;465|.	D6RG30;Q2TB18|.	.;ASTE1_HUMAN|.	H|T	465|42	.|.	ENSP00000264992:P465H|ENSP00000423347:P42T	P|P	-|-	2|1	0|0	ASTE1|ASTE1	132220159|132220159	1.000000|1.000000	0.71417|0.71417	0.876000|0.876000	0.34364|0.34364	0.048000|0.048000	0.14542|0.14542	6.385000|6.385000	0.73182|0.73182	1.413000|1.413000	0.46997|0.46997	0.655000|0.655000	0.94253|0.94253	CCC|CCA		0.483	ASTE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356659.1	NM_014065		15	50	1	0	1.5739e-10	1	1.6844e-10	15	50					T	130737469	G	T	130737469	3	4	435	1	0	0	0	0	1	0	0	0	1062	1232	43	5	657	5	ASTE1	3	130737469	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	273715	130737469	67284961	2046	22971											
MRPL3	11222	broad.mit.edu	37	chr3	131186992	131186992	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tttacatagattatgttgtgCtttgtgtttattctccacac	8	20	6	7	0	1	1	0	0	1	1	2	1	1	1	1	0	2	3	1	0	4	9			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:131186992C>T	ENST00000264995.3	-	9	984	c.837G>A	c.(835-837)aaG>aaA	p.K279K	MRPL3_ENST00000425847.2_Silent_p.K306K	NM_007208.3	NP_009139.1	P09001	RM03_HUMAN	mitochondrial ribosomal protein L3	279					translation (GO:0006412)	mitochondrial large ribosomal subunit (GO:0005762)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1)	10						TTATGTTGTGCTTTGTGTTTA	0.284																																						ENST00000264995.3																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1)	10						c.(835-837)aaG>aaA		mitochondrial ribosomal protein L3							129	130	130					3																	131186992		2202	4288	6490	SO:0001819	synonymous_variant	11222				translation	mitochondrial large ribosomal subunit	RNA binding|structural constituent of ribosome	g.chr3:131186992C>T	X06323	CCDS3071.1	3q21-q23	2012-09-13			ENSG00000114686	ENSG00000114686		"Mitochondrial ribosomal proteins / large subunits"	10379	protein-coding gene	gene with protein product		607118		RPML3		2891103	Standard	NM_007208		Approved	MRL3	uc003eoh.3	P09001	OTTHUMG00000159607	ENST00000264995.3:c.837G>A	3.37:g.131186992C>T						MRPL3_ENST00000425847.2_Silent_p.K306K	p.K279K	NM_007208.3	NP_009139.1	P09001	RM03_HUMAN			9	984	-			279					Q6IBT2	Silent	SNP	ENST00000264995.3	37	c.837G>A	CCDS3071.1	.	.	.	.	.	.	.	.	.	.	C	9.171	1.021166	0.19433	.	.	ENSG00000114686	ENST00000511168	.	.	.	5.71	0.273	0.15650	.	.	.	.	.	T	0.58750	0.2144	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.54153	-0.8336	4	.	.	.	-14.5997	11.1222	0.48298	0.0:0.6213:0.0:0.3787	.	.	.	.	T	294	.	.	A	-	1	0	MRPL3	132669682	0.495000	0.26051	0.999000	0.59377	0.992000	0.81027	-0.354000	0.07681	0.088000	0.17205	0.585000	0.79938	GCA		0.284	MRPL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356471.3	NM_007208		22	54	0	0	0	1	0	22	54					T	131186992	C	T	131186992	2	4	435	1	0	0	0	0	0	0	0	1	9793	796	28	3		3	MRPL3	3	131186992	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	449523	131186992	66835438	2047	22972											
MRPL3	11222	broad.mit.edu	37	chr3	131220553	131220553	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctctaacaaaaagccagatGtgtgttctataaaaagaaaa	19	9	6	7	0	2	2	0	0	2	2	2	2	2	2	2	0	2	1	2	0	9	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:131220553G>A	ENST00000264995.3	-	2	246	c.99C>T	c.(97-99)caC>caT	p.H33H	MRPL3_ENST00000506946.1_5'Flank|MRPL3_ENST00000425847.2_Silent_p.H60H	NM_007208.3	NP_009139.1	P09001	RM03_HUMAN	mitochondrial ribosomal protein L3	33					translation (GO:0006412)	mitochondrial large ribosomal subunit (GO:0005762)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1)	10						AAAGCCAGATGTGTGTTCTAT	0.348																																						ENST00000264995.3																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1)	10						c.(97-99)caC>caT		mitochondrial ribosomal protein L3							110	119	116					3																	131220553		2203	4300	6503	SO:0001819	synonymous_variant	11222				translation	mitochondrial large ribosomal subunit	RNA binding|structural constituent of ribosome	g.chr3:131220553G>A	X06323	CCDS3071.1	3q21-q23	2012-09-13			ENSG00000114686	ENSG00000114686		"Mitochondrial ribosomal proteins / large subunits"	10379	protein-coding gene	gene with protein product		607118		RPML3		2891103	Standard	NM_007208		Approved	MRL3	uc003eoh.3	P09001	OTTHUMG00000159607	ENST00000264995.3:c.99C>T	3.37:g.131220553G>A						MRPL3_ENST00000425847.2_Silent_p.H60H	p.H33H	NM_007208.3	NP_009139.1	P09001	RM03_HUMAN			2	246	-			33					Q6IBT2	Silent	SNP	ENST00000264995.3	37	c.99C>T	CCDS3071.1	.	.	.	.	.	.	.	.	.	.	G	8.815	0.936072	0.18206	.	.	ENSG00000114686	ENST00000511168	T	0.64260	-0.09	5.84	1.83	0.25207	.	0.989114	0.08261	N	0.973039	T	0.56877	0.2015	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.50923	-0.8770	7	0.51188	T	0.08	-3.6348	5.9827	0.19415	0.2955:0.1297:0.5749:0.0	.	.	.	.	Y	48	ENSP00000424107:H48Y	ENSP00000424107:H48Y	H	-	1	0	MRPL3	132703243	0.000000	0.05858	0.011000	0.14972	0.582000	0.36321	0.250000	0.18235	0.372000	0.24591	0.655000	0.94253	CAT		0.348	MRPL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356471.3	NM_007208		45	70	0	0	0	1	0	45	70					A	131220553	G	A	131220553	2	1	435	1	0	0	0	0	0	0	0	1	9793	1368	48	3		3	MRPL3	3	131220553	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	33561	131220553	66801877	2048	22973											
CPNE4	131034	broad.mit.edu	37	chr3	131261517	131261517	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctgcatgtcactgaagtcagCgttccctactcccacgatga	9	10	8	14	2	2	2	2	2	0	0	4	3	4	2	2	0	3	2	2	0	2	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:131261517C>T	ENST00000512055.1	-	19	3549	c.1423G>A	c.(1423-1425)Gct>Act	p.A475T	CPNE4_ENST00000512332.1_Missense_Mutation_p.A493T|CPNE4_ENST00000429747.1_Missense_Mutation_p.A475T|CPNE4_ENST00000502818.1_Missense_Mutation_p.A493T|CPNE4_ENST00000511604.1_Missense_Mutation_p.A475T			Q96A23	CPNE4_HUMAN	copine IV	475	VWFA.					extracellular vesicular exosome (GO:0070062)				central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|liver(1)|lung(16)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	39						CTGAAGTCAGCGTTCCCTACT	0.562																																						ENST00000512055.1																			0				central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|liver(1)|lung(16)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	39						c.(1423-1425)Gct>Act		copine IV							176	148	157					3																	131261517		2203	4300	6503	SO:0001583	missense	131034							g.chr3:131261517C>T	H29499	CCDS3072.1, CCDS75010.1	3q22.1	2014-09-04			ENSG00000196353	ENSG00000196353			2317	protein-coding gene	gene with protein product	"copine 8"	604208				9430674, 12670487	Standard	XM_005247107		Approved	COPN4, CPN4	uc003eok.3	Q96A23	OTTHUMG00000159631	ENST00000512055.1:c.1423G>A	3.37:g.131261517C>T	ENSP00000421705:p.Ala475Thr					CPNE4_ENST00000429747.1_Missense_Mutation_p.A475T|CPNE4_ENST00000512332.1_Missense_Mutation_p.A493T|CPNE4_ENST00000511604.1_Missense_Mutation_p.A475T|CPNE4_ENST00000502818.1_Missense_Mutation_p.A493T	p.A475T			Q96A23	CPNE4_HUMAN			19	3549	-			475			VWFA.		D3DNC5|Q8TEX1	Missense_Mutation	SNP	ENST00000512055.1	37	c.1423G>A	CCDS3072.1	.	.	.	.	.	.	.	.	.	.	C	33	5.249427	0.95305	.	.	ENSG00000196353	ENST00000512055;ENST00000429747;ENST00000512332;ENST00000511604;ENST00000502818	T;T;T;T;T	0.25749	1.78;1.78;1.78;1.78;1.78	5.58	5.58	0.84498	von Willebrand factor, type A (1);	0.000000	0.85682	D	0.000000	T	0.64204	0.2577	M	0.93550	3.43	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.80764	0.994;0.992	T	0.74131	-0.3764	10	0.87932	D	0	-15.7907	19.5825	0.95473	0.0:1.0:0.0:0.0	.	493;475	Q96A23-2;Q96A23	.;CPNE4_HUMAN	T	475;475;493;475;493	ENSP00000421705:A475T;ENSP00000411904:A475T;ENSP00000424853:A493T;ENSP00000423811:A475T;ENSP00000421646:A493T	ENSP00000411904:A475T	A	-	1	0	CPNE4	132744207	1.000000	0.71417	0.933000	0.37362	0.805000	0.45488	7.765000	0.85310	2.624000	0.88883	0.655000	0.94253	GCT		0.562	CPNE4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356583.4	NM_130808		4	68	0	0	0	1	0	4	68					T	131261517	C	T	131261517	3	4	435	1	0	0	0	0	1	0	0	0	3814	768	27	1	258	1	CPNE4	3	131261517	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	40964	131261517	66760913	2049	22974											
ACPP	55	broad.mit.edu	37	chr3	132050506	132050506	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	catagctgggcatggagcagCattatgaacttggagagtat	12	10	13	6	0	0	2	0	1	0	1	0	4	0	3	0	3	4	5	0	3	4	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:132050506C>T	ENST00000336375.5	+	3	322	c.232C>T	c.(232-234)Cat>Tat	p.H78Y	ACPP_ENST00000475741.1_Missense_Mutation_p.H78Y|ACPP_ENST00000489084.1_3'UTR|ACPP_ENST00000351273.7_Missense_Mutation_p.H78Y	NM_001099.4	NP_001090.2	P15309	PPAP_HUMAN	acid phosphatase, prostate	78					adenosine metabolic process (GO:0046085)|dephosphorylation (GO:0016311)|nucleotide metabolic process (GO:0009117)|positive regulation of adenosine receptor signaling pathway (GO:0060168)|purine nucleobase metabolic process (GO:0006144)|regulation of sensory perception of pain (GO:0051930)|thiamine metabolic process (GO:0006772)	apical part of cell (GO:0045177)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|Golgi cisterna (GO:0031985)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|lysosomal membrane (GO:0005765)|multivesicular body (GO:0005771)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)|vesicle membrane (GO:0012506)	5'-nucleotidase activity (GO:0008253)|acid phosphatase activity (GO:0003993)|choline binding (GO:0033265)|identical protein binding (GO:0042802)|lysophosphatidic acid phosphatase activity (GO:0052642)|phosphatase activity (GO:0016791)|thiamine phosphate phosphatase activity (GO:0042131)			NS(1)|breast(1)|endometrium(2)|large_intestine(5)|lung(13)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	27						CATGGAGCAGCATTATGAACT	0.323																																						ENST00000336375.5																			0				NS(1)|breast(1)|endometrium(2)|large_intestine(5)|lung(13)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	27						c.(232-234)Cat>Tat		acid phosphatase, prostate							45	50	48					3																	132050506		2198	4298	6496	SO:0001583	missense	55					extracellular region|lysosomal membrane	5'-nucleotidase activity|acid phosphatase activity	g.chr3:132050506C>T		CCDS3073.1, CCDS46916.1	3q22.1	2012-05-16			ENSG00000014257	ENSG00000014257	3.1.3.2		125	protein-coding gene	gene with protein product		171790					Standard	NM_001099		Approved	ACP3, ACP-3	uc003eop.4	P15309	OTTHUMG00000159650	ENST00000336375.5:c.232C>T	3.37:g.132050506C>T	ENSP00000337471:p.His78Tyr					ACPP_ENST00000351273.7_Missense_Mutation_p.H78Y|ACPP_ENST00000489084.1_3'UTR|ACPP_ENST00000475741.1_Missense_Mutation_p.H78Y	p.H78Y	NM_001099.4	NP_001090.2	P15309	PPAP_HUMAN			3	322	+			78					D3DNC6|Q5FBY0|Q96KY0|Q96QK9|Q96QM0	Missense_Mutation	SNP	ENST00000336375.5	37	c.232C>T	CCDS3073.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.250821	0.80135	.	.	ENSG00000014257	ENST00000336375;ENST00000475741;ENST00000351273	T;T;T	0.30981	1.51;1.51;1.51	5.58	5.58	0.84498	.	0.266952	0.32884	N	0.005521	T	0.63153	0.2487	M	0.90309	3.105	0.53005	D	0.999963	D;D;D	0.76494	0.999;0.999;0.995	D;P;P	0.64410	0.925;0.877;0.883	T	0.71137	-0.4680	10	0.87932	D	0	.	18.345	0.90318	0.0:1.0:0.0:0.0	.	78;78;78	P15309;P15309-2;Q5FBY0	PPAP_HUMAN;.;.	Y	78	ENSP00000337471:H78Y;ENSP00000417744:H78Y;ENSP00000323036:H78Y	ENSP00000337471:H78Y	H	+	1	0	ACPP	133533196	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.989000	0.70587	2.636000	0.89361	0.655000	0.94253	CAT		0.323	ACPP-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000356699.2	NM_001099		18	44	0	0	0	1	0	18	44					T	132050506	C	T	132050506	3	4	435	1	0	0	0	0	1	0	0	0	167	710	25	3	242	3	ACPP	3	132050506	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	788989	132050506	65971924	2050	22975											
DNAJC13	23317	broad.mit.edu	37	chr3	132175576	132175576	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	cattactgtcccaagaagggGatgtcgttgcttcaaatgcg	10	11	11	9	2	1	1	1	0	0	1	3	2	2	2	1	2	3	2	1	2	4	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:132175576G>A	ENST00000260818.6	+	12	1497	c.1249G>A	c.(1249-1251)Gat>Aat	p.D417N	DNAJC13_ENST00000486798.1_3'UTR	NM_015268.3	NP_056083.3	O75165	DJC13_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 13	417					osteoblast differentiation (GO:0001649)	extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)				breast(4)|endometrium(2)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|urinary_tract(1)	34						CCAAGAAGGGGATGTCGTTGC	0.433																																						ENST00000260818.6																			0				breast(4)|endometrium(2)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|urinary_tract(1)	34						c.(1249-1251)Gat>Aat		DnaJ (Hsp40) homolog, subfamily C, member 13							104	100	101					3																	132175576		2203	4300	6503	SO:0001583	missense	23317						heat shock protein binding	g.chr3:132175576G>A	AB014578	CCDS33857.1	3q22.1	2011-09-02			ENSG00000138246	ENSG00000138246		"Heat shock proteins / DNAJ (HSP40)"	30343	protein-coding gene	gene with protein product		614334				12438707	Standard	NM_015268		Approved	RME8, KIAA0678	uc003eor.3	O75165	OTTHUMG00000159674	ENST00000260818.6:c.1249G>A	3.37:g.132175576G>A	ENSP00000260818:p.Asp417Asn					DNAJC13_ENST00000486798.1_3'UTR	p.D417N	NM_015268.3	NP_056083.3	O75165	DJC13_HUMAN			12	1497	+			417					Q3L0T1|Q6PI82|Q6UJ77|Q6ZSW1|Q6ZUT5|Q86XG3|Q96DC1|Q9BWK9	Missense_Mutation	SNP	ENST00000260818.6	37	c.1249G>A	CCDS33857.1	.	.	.	.	.	.	.	.	.	.	G	19.52	3.843180	0.71488	.	.	ENSG00000138246	ENST00000260818	T	0.34472	1.36	5.86	4.99	0.66335	.	0.299368	0.36628	N	0.002482	T	0.38746	0.1052	N	0.24115	0.695	0.48452	D	0.999654	B;D;B	0.55800	0.074;0.973;0.18	B;P;B	0.54270	0.031;0.747;0.037	T	0.20874	-1.0262	10	0.44086	T	0.13	.	14.9363	0.70957	0.0683:0.0:0.9317:0.0	.	417;84;417	A7E2Y5;Q8N7A5;O75165	.;.;DJC13_HUMAN	N	417	ENSP00000260818:D417N	ENSP00000260818:D417N	D	+	1	0	DNAJC13	133658266	1.000000	0.71417	0.974000	0.42286	0.646000	0.38490	9.593000	0.98250	1.494000	0.48533	0.655000	0.94253	GAT		0.433	DNAJC13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356807.2	NM_015268		32	45	0	0	0	1	0	32	45					A	132175576	G	A	132175576	3	1	435	1	0	0	0	0	1	0	0	0	4632	1174	41	3	1291	3	DNAJC13	3	132175576	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	125070	132175576	65846854	2051	22976											
DNAJC13	23317	broad.mit.edu	37	chr3	132184906	132184906	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctgcaacaaacttgttgaaaCgcattttggtaagtcagttg	12	13	9	7	1	1	1	1	1	0	0	1	1	1	1	0	1	4	5	0	1	4	6			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:132184906C>T	ENST00000260818.6	+	18	2208	c.1960C>T	c.(1960-1962)Cgc>Tgc	p.R654C	DNAJC13_ENST00000486798.1_3'UTR	NM_015268.3	NP_056083.3	O75165	DJC13_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 13	654					osteoblast differentiation (GO:0001649)	extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)				breast(4)|endometrium(2)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|urinary_tract(1)	34						CTTGTTGAAACGCATTTTGGT	0.353																																						ENST00000260818.6																			0				breast(4)|endometrium(2)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|urinary_tract(1)	34						c.(1960-1962)Cgc>Tgc		DnaJ (Hsp40) homolog, subfamily C, member 13							74	71	72					3																	132184906		2203	4300	6503	SO:0001583	missense	23317						heat shock protein binding	g.chr3:132184906C>T	AB014578	CCDS33857.1	3q22.1	2011-09-02			ENSG00000138246	ENSG00000138246		"Heat shock proteins / DNAJ (HSP40)"	30343	protein-coding gene	gene with protein product		614334				12438707	Standard	NM_015268		Approved	RME8, KIAA0678	uc003eor.3	O75165	OTTHUMG00000159674	ENST00000260818.6:c.1960C>T	3.37:g.132184906C>T	ENSP00000260818:p.Arg654Cys					DNAJC13_ENST00000486798.1_3'UTR	p.R654C	NM_015268.3	NP_056083.3	O75165	DJC13_HUMAN			18	2208	+			654					Q3L0T1|Q6PI82|Q6UJ77|Q6ZSW1|Q6ZUT5|Q86XG3|Q96DC1|Q9BWK9	Missense_Mutation	SNP	ENST00000260818.6	37	c.1960C>T	CCDS33857.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.414359	0.83449	.	.	ENSG00000138246	ENST00000260818	T	0.35973	1.28	5.53	5.53	0.82687	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.62829	0.2460	M	0.74881	2.28	0.80722	D	1	D;D	0.89917	0.984;1.0	P;D	0.73708	0.465;0.981	T	0.65804	-0.6079	10	0.87932	D	0	.	19.4655	0.94935	0.0:1.0:0.0:0.0	.	654;654	A7E2Y5;O75165	.;DJC13_HUMAN	C	654	ENSP00000260818:R654C	ENSP00000260818:R654C	R	+	1	0	DNAJC13	133667596	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.936000	0.70153	2.602000	0.87976	0.650000	0.86243	CGC		0.353	DNAJC13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356807.2	NM_015268		3	33	0	0	0	1	0	3	33					T	132184906	C	T	132184906	3	4	435	1	0	0	0	0	1	0	0	0	4632	536	19	1	2026	1	DNAJC13	3	132184906	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	9330	132184906	65837524	2052	22977											
DNAJC13	23317	broad.mit.edu	37	chr3	132207163	132207163	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tactgctgacctttgaccctAtccttgttgagaaggttgct	7	15	9	10	0	0	3	0	3	0	1	1	4	1	3	3	1	3	4	3	1	3	6			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:132207163A>G	ENST00000260818.6	+	30	3537	c.3289A>G	c.(3289-3291)Atc>Gtc	p.I1097V		NM_015268.3	NP_056083.3	O75165	DJC13_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 13	1097				I -> T (in Ref. 6; BAC86133). {ECO:0000305}.	osteoblast differentiation (GO:0001649)	extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)				breast(4)|endometrium(2)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|urinary_tract(1)	34						CTTTGACCCTATCCTTGTTGA	0.338																																						ENST00000260818.6																			0				breast(4)|endometrium(2)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|urinary_tract(1)	34						c.(3289-3291)Atc>Gtc		DnaJ (Hsp40) homolog, subfamily C, member 13							91	84	86					3																	132207163		2203	4300	6503	SO:0001583	missense	23317						heat shock protein binding	g.chr3:132207163A>G	AB014578	CCDS33857.1	3q22.1	2011-09-02			ENSG00000138246	ENSG00000138246		"Heat shock proteins / DNAJ (HSP40)"	30343	protein-coding gene	gene with protein product		614334				12438707	Standard	NM_015268		Approved	RME8, KIAA0678	uc003eor.3	O75165	OTTHUMG00000159674	ENST00000260818.6:c.3289A>G	3.37:g.132207163A>G	ENSP00000260818:p.Ile1097Val						p.I1097V	NM_015268.3	NP_056083.3	O75165	DJC13_HUMAN			30	3537	+			1097	I -> T (in Ref. 6; BAC86133).				Q3L0T1|Q6PI82|Q6UJ77|Q6ZSW1|Q6ZUT5|Q86XG3|Q96DC1|Q9BWK9	Missense_Mutation	SNP	ENST00000260818.6	37	c.3289A>G	CCDS33857.1	.	.	.	.	.	.	.	.	.	.	A	14.63	2.592935	0.46214	.	.	ENSG00000138246	ENST00000260818	T	0.47177	0.85	5.75	5.75	0.90469	Armadillo-like helical (1);Armadillo-type fold (1);	0.058921	0.64402	D	0.000004	T	0.36026	0.0952	N	0.21373	0.66	0.58432	D	0.999992	B	0.18610	0.029	B	0.11329	0.006	T	0.10109	-1.0644	10	0.29301	T	0.29	.	16.0634	0.80856	1.0:0.0:0.0:0.0	.	1097	O75165	DJC13_HUMAN	V	1097	ENSP00000260818:I1097V	ENSP00000260818:I1097V	I	+	1	0	DNAJC13	133689853	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.875000	0.92372	2.202000	0.70862	0.528000	0.53228	ATC		0.338	DNAJC13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356807.2	NM_015268		18	40	0	0	0	1	0	18	40					G	132207163	A	G	132207163	3	3	435	1	0	0	0	0	1	0	0	0	4632	449	16	4	3403	4	DNAJC13	3	132207163	Missense_Mutation	SNP	A	TCGA-XK-AAIW-01A-11D-A41K-08	22257	132207163	65815267	2053	22978											
BFSP2	8419	broad.mit.edu	37	chr3	133119015	133119015	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gcagggcgtccttcagggggCcacggtcatcatcctccctg	5	8	13	15	2	3	0	3	0	0	0	6	0	6	0	4	4	0	1	4	4	0	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:133119015C>T	ENST00000302334.2	+	1	177	c.88C>T	c.(88-90)Cca>Tca	p.P30S		NM_003571.2	NP_003562.1	Q13515	BFSP2_HUMAN	beaded filament structural protein 2, phakinin	30	Head.				cell maturation (GO:0048469)|intermediate filament cytoskeleton organization (GO:0045104)|lens fiber cell development (GO:0070307)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|intermediate filament (GO:0005882)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)|structural constituent of eye lens (GO:0005212)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|urinary_tract(1)	13						CTTCAGGGGGCCACGGTCATC	0.647																																						ENST00000302334.2																			0				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|urinary_tract(1)	13						c.(88-90)Cca>Tca		beaded filament structural protein 2, phakinin							60	70	67					3																	133119015		2203	4300	6503	SO:0001583	missense	8419				response to stimulus|visual perception	cytoplasm|intermediate filament|membrane	structural constituent of cytoskeleton|structural constituent of eye lens	g.chr3:133119015C>T	U48224	CCDS33859.1	3q22.1	2013-01-16			ENSG00000170819	ENSG00000170819		"Intermediate filaments type VI, eye lens intermediate filaments"	1041	protein-coding gene	gene with protein product		603212					Standard	NM_003571		Approved	CP47, CP49, LIFL-L, phakinin	uc003epn.1	Q13515	OTTHUMG00000159719	ENST00000302334.2:c.88C>T	3.37:g.133119015C>T	ENSP00000304987:p.Pro30Ser						p.P30S	NM_003571.2	NP_003562.1	Q13515	BFSP2_HUMAN			1	177	+			30			Head.		Q14D32|Q9HBW5	Missense_Mutation	SNP	ENST00000302334.2	37	c.88C>T	CCDS33859.1	.	.	.	.	.	.	.	.	.	.	C	7.484	0.649210	0.14516	.	.	ENSG00000170819	ENST00000302334	D	0.81821	-1.54	5.22	-7.02	0.01589	.	0.975741	0.08423	N	0.948036	T	0.42449	0.1203	N	0.01048	-1.04	0.20403	N	0.999904	B	0.02656	0.0	B	0.04013	0.001	T	0.45906	-0.9229	10	0.10902	T	0.67	1.0873	4.6676	0.12673	0.1409:0.3263:0.4223:0.1105	.	30	Q13515	BFSP2_HUMAN	S	30	ENSP00000304987:P30S	ENSP00000304987:P30S	P	+	1	0	BFSP2	134601705	0.027000	0.19231	0.031000	0.17742	0.926000	0.56050	-0.087000	0.11215	-0.910000	0.03847	0.462000	0.41574	CCA		0.647	BFSP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357031.1			13	22	0	0	0	1	0	13	22					T	133119015	C	T	133119015	3	4	435	1	0	0	0	0	1	0	0	0	1416	739	26	3	90	3	BFSP2	3	133119015	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	911852	133119015	64903415	2054	22979											
TOPBP1	11073	broad.mit.edu	37	chr3	133356748	133356748	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	caaaggaaggcttgaagagtTtgtccttggacaggaatttt	12	12	12	5	0	0	2	0	1	0	1	1	5	1	5	1	4	0	2	1	4	4	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:133356748T>C	ENST00000260810.5	-	14	2623	c.2492A>G	c.(2491-2493)aAa>aGa	p.K831R		NM_007027.3	NP_008958.2	Q92547	TOPB1_HUMAN	topoisomerase (DNA) II binding protein 1	831					cellular response to DNA damage stimulus (GO:0006974)|DNA metabolic process (GO:0006259)|DNA repair (GO:0006281)|response to ionizing radiation (GO:0010212)	chromosome (GO:0005694)|condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|male germ cell nucleus (GO:0001673)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|protein C-terminus binding (GO:0008022)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(14)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	40						CTTGAAGAGTTTGTCCTTGGA	0.463								Other conserved DNA damage response genes																													Ovarian(21;193 658 4424 15423 17362)	ENST00000260810.5																			0				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(14)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	40						c.(2491-2493)aAa>aGa	Other conserved DNA damage response genes	topoisomerase (DNA) II binding protein 1							145	147	146					3																	133356748		1952	4129	6081	SO:0001583	missense	11073				DNA repair|response to ionizing radiation	microtubule organizing center|PML body|spindle pole	DNA binding|protein C-terminus binding	g.chr3:133356748T>C	AB019397	CCDS46919.1	3q22.1	2004-06-21			ENSG00000163781	ENSG00000163781			17008	protein-coding gene	gene with protein product		607760				9461304, 9039502	Standard	NM_007027		Approved	KIAA0259, TOP2BP1	uc003eps.3	Q92547	OTTHUMG00000159773	ENST00000260810.5:c.2492A>G	3.37:g.133356748T>C	ENSP00000260810:p.Lys831Arg						p.K831R	NM_007027.3	NP_008958.2	Q92547	TOPB1_HUMAN			14	2623	-			831					B7Z7W8|Q7LGC1|Q9UEB9	Missense_Mutation	SNP	ENST00000260810.5	37	c.2492A>G	CCDS46919.1	.	.	.	.	.	.	.	.	.	.	T	17.93	3.509932	0.64522	.	.	ENSG00000163781	ENST00000260810	T	0.24350	1.86	5.93	5.93	0.95920	.	0.196193	0.48767	D	0.000174	T	0.25232	0.0613	L	0.48362	1.52	0.46011	D	0.998817	P	0.36733	0.567	B	0.34873	0.191	T	0.02202	-1.1196	10	0.29301	T	0.29	.	16.3839	0.83495	0.0:0.0:0.0:1.0	.	831	Q92547	TOPB1_HUMAN	R	831	ENSP00000260810:K831R	ENSP00000260810:K831R	K	-	2	0	TOPBP1	134839438	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.040000	0.89188	2.258000	0.74832	0.533000	0.62120	AAA		0.463	TOPBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357254.1	NM_007027		27	45	0	0	0	1	0	27	45					C	133356748	T	C	133356748	3	2	435	1	0	0	0	0	1	0	0	0	16366	1841	64	4	2136	4	TOPBP1	3	133356748	Missense_Mutation	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	237733	133356748	64665682	2055	22980											
C3orf36	80111	broad.mit.edu	37	chr3	133647492	133647492	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gctaggaatgccttcctgagCgtggttggtgggggctctaa	6	11	16	8	1	1	1	0	1	1	0	2	2	2	2	2	5	2	3	2	5	3	4	rs546128056		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:133647492C>T	ENST00000408895.2	-	1	1164	c.156G>A	c.(154-156)acG>acA	p.T52T		NM_025041.2	NP_079317.2	Q3SXR2	CC036_HUMAN	chromosome 3 open reading frame 36	52										breast(1)|endometrium(1)|large_intestine(2)|lung(1)|ovary(1)	6						CCTTCCTGAGCGTGGTTGGTG	0.642													C|||	1	0.000199681	0	0.0014	5008	,	,		18519	0		0	False		,,,				2504	0					ENST00000408895.2																			0				breast(1)|endometrium(1)|large_intestine(2)|lung(1)|ovary(1)	6						c.(154-156)acG>acA		chromosome 3 open reading frame 36							40	42	41					3																	133647492		2203	4300	6503	SO:0001819	synonymous_variant	80111							g.chr3:133647492C>T	AK025826	CCDS3083.1	3q22.1	2011-09-30			ENSG00000221972	ENSG00000221972			26170	protein-coding gene	gene with protein product						12477932	Standard	NM_025041		Approved	FLJ22173	uc003epz.1	Q3SXR2		ENST00000408895.2:c.156G>A	3.37:g.133647492C>T							p.T52T	NM_025041.2	NP_079317.2	Q3SXR2	CC036_HUMAN			1	1164	-			52					Q3SXR3|Q9H6K8	Silent	SNP	ENST00000408895.2	37	c.156G>A	CCDS3083.1																																																																																				0.642	C3orf36-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_025041		9	7	0	0	0	1	0	9	7					T	133647492	C	T	133647492	2	4	435	1	0	0	0	0	0	0	0	1	2226	755	27	1		1	C3orf36	3	133647492	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	290744	133647492	64374938	2056	22981											
RYK	6259	broad.mit.edu	37	chr3	133878153	133878153	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgcggccatctcgaaggggTcaatgtccacgtagggagtc	9	8	14	10	3	2	0	1	0	1	0	5	2	3	1	2	4	1	1	2	4	3	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:133878153T>C	ENST00000427044.2	-	15	1683	c.1073A>G	c.(1072-1074)gAc>gGc	p.D358G	RYK_ENST00000296084.4_Missense_Mutation_p.D548G			P34925	RYK_HUMAN	receptor-like tyrosine kinase	544	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|corpus callosum development (GO:0022038)|neuron differentiation (GO:0030182)|neuron projection development (GO:0031175)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of MAPK cascade (GO:0043410)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)			lung(1)|ovary(3)	4						CTCGAAGGGGTCAATGTCCAC	0.498																																						ENST00000427044.2																			0				lung(1)|ovary(3)	4						c.(1072-1074)gAc>gGc		receptor-like tyrosine kinase							71	70	70					3																	133878153		1997	4146	6143	SO:0001583	missense	6259				corpus callosum development|positive regulation of MAPKKK cascade|Wnt receptor signaling pathway	cytoplasm|integral to plasma membrane|nucleus	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr3:133878153T>C	S59184	CCDS75016.1	3q22.1	2012-02-28	2012-02-28		ENSG00000163785	ENSG00000163785	2.7.10.1		10481	protein-coding gene	gene with protein product		600524	"JTK5A protein tyrosine kinase", "RYK receptor-like tyrosine kinase"	JTK5A		8386829	Standard	NM_001005861		Approved	D3S3195, RYK1, JTK5	uc003eqc.1	P34925	OTTHUMG00000159750	ENST00000427044.2:c.1073A>G	3.37:g.133878153T>C	ENSP00000399527:p.Asp358Gly					RYK_ENST00000296084.4_Missense_Mutation_p.D548G	p.D358G			P34925	RYK_HUMAN			15	1683	-			544			Protein kinase.		Q04696	Missense_Mutation	SNP	ENST00000427044.2	37	c.1073A>G		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	30|30	5.055097|5.055097	0.93793|0.93793	.|.	.|.	ENSG00000163785|ENSG00000163785	ENST00000296084;ENST00000427044|ENST00000460933	T;D|.	0.89552|.	0.74;-2.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.70544|0.70544	0.3236|0.3236	L|L	0.57130|0.57130	1.785|1.785	0.80722|0.80722	D|D	1|1	D;D|.	0.76494|.	0.999;0.998|.	D;D|.	0.81914|.	0.995;0.991|.	T|T	0.68949|0.68949	-0.5274|-0.5274	10|5	0.62326|.	D|.	0.03|.	-7.5652|-7.5652	15.8788|15.8788	0.79185|0.79185	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	544;547|.	P34925;P34925-2|.	RYK_HUMAN;.|.	G|A	548;358|527	ENSP00000296084:D548G;ENSP00000399527:D358G|.	ENSP00000296084:D548G|.	D|T	-|-	2|1	0|0	RYK|RYK	135360843|135360843	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	7.698000|7.698000	0.84413|0.84413	2.155000|2.155000	0.67459|0.67459	0.482000|0.482000	0.46254|0.46254	GAC|ACC		0.498	RYK-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001005861		7	12	0	0	0	1	0	7	12					C	133878153	T	C	133878153	3	2	435	1	0	0	0	0	1	0	0	0	13767	1667	58	4	191	4	RYK	3	133878153	Missense_Mutation	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	230661	133878153	64144277	2057	22982											
RYK	6259	broad.mit.edu	37	chr3	133941272	133941272	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	actctcttaccttggacttcGcatgccaggtgaagtgcagg	8	11	11	11	1	1	1	0	1	1	0	3	2	1	2	2	3	3	2	2	3	2	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:133941272G>A	ENST00000296084.4	-	3	337	c.338C>T	c.(337-339)gCg>gTg	p.A113V	RYK_ENST00000427044.2_5'UTR	NM_001005861.2|NM_002958.3	NP_001005861.1|NP_002949.2	P34925	RYK_HUMAN	receptor-like tyrosine kinase	112	WIF. {ECO:0000255|PROSITE- ProRule:PRU00222}.				axon guidance (GO:0007411)|corpus callosum development (GO:0022038)|neuron differentiation (GO:0030182)|neuron projection development (GO:0031175)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of MAPK cascade (GO:0043410)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)			lung(1)|ovary(3)	4						CTTGGACTTCGCATGCCAGGT	0.478																																						ENST00000296084.4																			0				lung(1)|ovary(3)	4						c.(337-339)gCg>gTg		receptor-like tyrosine kinase							88	83	85					3																	133941272		1958	4165	6123	SO:0001583	missense	6259				corpus callosum development|positive regulation of MAPKKK cascade|Wnt receptor signaling pathway	cytoplasm|integral to plasma membrane|nucleus	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr3:133941272G>A	S59184	CCDS75016.1	3q22.1	2012-02-28	2012-02-28		ENSG00000163785	ENSG00000163785	2.7.10.1		10481	protein-coding gene	gene with protein product		600524	"JTK5A protein tyrosine kinase", "RYK receptor-like tyrosine kinase"	JTK5A		8386829	Standard	NM_001005861		Approved	D3S3195, RYK1, JTK5	uc003eqc.1	P34925	OTTHUMG00000159750	ENST00000296084.4:c.338C>T	3.37:g.133941272G>A	ENSP00000296084:p.Ala113Val					RYK_ENST00000427044.2_5'UTR	p.A113V	NM_001005861.2|NM_002958.3	NP_001005861.1|NP_002949.2	P34925	RYK_HUMAN			3	337	-			112			WIF.		Q04696	Missense_Mutation	SNP	ENST00000296084.4	37	c.338C>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.9|20.9	4.069447|4.069447	0.76301|0.76301	.|.	.|.	ENSG00000163785|ENSG00000163785	ENST00000296084|ENST00000460933	T|.	0.52754|.	0.65|.	5.95|5.95	5.95|5.95	0.96441|0.96441	WIF domain (4);|.	0.053385|.	0.85682|.	D|.	0.000000|.	T|.	0.60715|.	0.2290|.	L|L	0.33485|0.33485	1.01|1.01	0.80722|0.80722	D|D	1|1	D;P|.	0.53885|.	0.963;0.954|.	P;B|.	0.45829|.	0.494;0.361|.	T|.	0.52734|.	-0.8536|.	10|.	0.32370|.	T|.	0.25|.	-5.2128|-5.2128	19.1462|19.1462	0.93469|0.93469	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	112;112|.	P34925;P34925-2|.	RYK_HUMAN;.|.	V|X	113|95	ENSP00000296084:A113V|.	ENSP00000296084:A113V|.	A|R	-|-	2|1	0|2	RYK|RYK	135423962|135423962	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.894000|0.894000	0.52154|0.52154	8.765000|8.765000	0.91724|0.91724	2.817000|2.817000	0.96982|0.96982	0.563000|0.563000	0.77884|0.77884	GCG|CGA		0.478	RYK-201	KNOWN	basic	protein_coding	protein_coding		NM_001005861		30	50	0	0	0	1	0	30	50					A	133941272	G	A	133941272	3	1	435	1	0	0	0	0	1	0	0	0	13767	1087	38	1	1544	1	RYK	3	133941272	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	63119	133941272	64081158	2058	22983											
KY	339855	broad.mit.edu	37	chr3	134322744	134322744	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggtgttggcacagcatacaaGgtaattaaagacgaagatgt	15	9	12	5	1	0	2	0	0	0	2	0	3	0	2	0	3	2	4	0	3	6	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:134322744G>A	ENST00000423778.2	-	11	1724	c.1663C>T	c.(1663-1665)Ctt>Ttt	p.L555F	KY_ENST00000508956.1_Missense_Mutation_p.L534F|KY_ENST00000503669.1_3'UTR	NM_178554.4	NP_848649.3	Q8NBH2	KY_HUMAN	kyphoscoliosis peptidase	557					muscle organ development (GO:0007517)|neuromuscular junction development (GO:0007528)	cytoskeleton (GO:0005856)|Z disc (GO:0030018)	peptidase activity (GO:0008233)			central_nervous_system(1)|endometrium(3)|kidney(1)|lung(12)|ovary(2)|upper_aerodigestive_tract(2)	21						CAGCATACAAGGTAATTAAAG	0.512																																						ENST00000508956.1																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|lung(12)|ovary(2)|upper_aerodigestive_tract(2)	21						c.(1600-1602)Ctt>Ttt		kyphoscoliosis peptidase							83	82	83					3																	134322744		1965	4157	6122	SO:0001583	missense	339855					cytoskeleton|Z disc	peptidase activity	g.chr3:134322744G>A	AK090526	CCDS46920.1	3q22.1	2010-11-23			ENSG00000174611	ENSG00000174611			26576	protein-coding gene	gene with protein product		605739					Standard	NM_178554		Approved	FLJ33207	uc010hty.3	Q8NBH2	OTTHUMG00000159788	ENST00000423778.2:c.1663C>T	3.37:g.134322744G>A	ENSP00000397598:p.Leu555Phe					KY_ENST00000423778.2_Missense_Mutation_p.L555F|KY_ENST00000503669.1_3'UTR	p.L534F			Q8NBH2	KY_HUMAN			10	1657	-			557					B7Z1S4|Q6ZT15	Missense_Mutation	SNP	ENST00000423778.2	37	c.1600C>T	CCDS46920.1	.	.	.	.	.	.	.	.	.	.	G	15.91	2.971628	0.53614	.	.	ENSG00000174611	ENST00000508956;ENST00000423778	T;T	0.29397	1.57;1.57	5.63	4.73	0.59995	.	.	.	.	.	T	0.39835	0.1093	N	0.14661	0.345	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.78314	0.991;0.988	T	0.48980	-0.8986	9	0.87932	D	0	.	16.4237	0.83790	0.0:0.1316:0.8684:0.0	.	534;555	Q8NBH2-3;Q8NBH2-4	.;.	F	534;555	ENSP00000421297:L534F;ENSP00000397598:L555F	ENSP00000397598:L555F	L	-	1	0	KY	135805434	1.000000	0.71417	0.951000	0.38953	0.658000	0.38924	7.159000	0.77483	1.336000	0.45506	0.561000	0.74099	CTT		0.512	KY-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357320.1	NM_178554		4	38	0	0	0	1	0	4	38					A	134322744	G	A	134322744	3	1	435	1	0	0	0	0	1	0	0	0	8586	1000	35	3	326	3	KY	3	134322744	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	381472	134322744	63699686	2059	22984											
EPHB1	2047	broad.mit.edu	37	chr3	134670843	134670843	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatggatggtgcctattgggCgatgcacctgcaagcctggc	8	9	14	10	1	0	0	0	0	0	0	0	2	0	1	3	4	4	2	3	4	3	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:134670843C>T	ENST00000398015.3	+	3	1124	c.754C>T	c.(754-756)Cga>Tga	p.R252*	EPHB1_ENST00000488154.1_Intron	NM_004441.4	NP_004432.1	P54762	EPHB1_HUMAN	EPH receptor B1	252	Cys-rich.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|camera-type eye morphogenesis (GO:0048593)|cell chemotaxis (GO:0060326)|cell-substrate adhesion (GO:0031589)|central nervous system projection neuron axonogenesis (GO:0021952)|dendritic spine development (GO:0060996)|dendritic spine morphogenesis (GO:0060997)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|ephrin receptor signaling pathway (GO:0048013)|establishment of cell polarity (GO:0030010)|neural precursor cell proliferation (GO:0061351)|neurogenesis (GO:0022008)|optic nerve morphogenesis (GO:0021631)|positive regulation of synapse assembly (GO:0051965)|protein autophosphorylation (GO:0046777)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of JNK cascade (GO:0046328)|retinal ganglion cell axon guidance (GO:0031290)	axon (GO:0030424)|early endosome membrane (GO:0031901)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|transmembrane-ephrin receptor activity (GO:0005005)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						GCCTATTGGGCGATGCACCTG	0.582																																						ENST00000398015.3																			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						c.(754-756)Cga>Tga		EPH receptor B1							153	149	151					3																	134670843		2129	4267	6396	SO:0001587	stop_gained	2047					integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding	g.chr3:134670843C>T	L40636	CCDS46921.1	3q21-q23	2013-02-11	2004-10-28			ENSG00000154928		"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3392	protein-coding gene	gene with protein product		600600	"EphB1"	EPHT2		8666391	Standard	NM_004441		Approved	Hek6	uc003eqt.3	P54762		ENST00000398015.3:c.754C>T	3.37:g.134670843C>T	ENSP00000381097:p.Arg252*					EPHB1_ENST00000488154.1_Intron	p.R252*	NM_004441.4	NP_004432.1	P54762	EPHB1_HUMAN			3	1124	+			252			Cys-rich.		A8K593|B3KTB2|B5A969|O43569|O95142|O95143|Q0VG87	Nonsense_Mutation	SNP	ENST00000398015.3	37	c.754C>T	CCDS46921.1	.	.	.	.	.	.	.	.	.	.	C	37	6.440223	0.97568	.	.	ENSG00000154928	ENST00000398015	.	.	.	5.6	5.6	0.85130	.	0.119694	0.64402	D	0.000015	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.461	0.67450	0.1471:0.8529:0.0:0.0	.	.	.	.	X	252	.	.	R	+	1	2	EPHB1	136153533	0.988000	0.35896	0.996000	0.52242	0.911000	0.54048	2.706000	0.47135	2.648000	0.89879	0.462000	0.41574	CGA		0.582	EPHB1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357671.1	NM_004441		15	86	0	0	0	1	0	15	86					T	134670843	C	T	134670843	4	4	435	1	0	0	0	0	0	1	0	0	5174	760	27	1	764	1	EPHB1	3	134670843	Nonsense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	348099	134670843	63351587	2060	22985											
STAG1	10274	broad.mit.edu	37	chr3	136078015	136078015	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagtgtggcaactgcttctcGtgtcttaatctggtccaatc	8	14	9	10	1	3	0	0	0	3	0	6	0	4	0	1	2	2	2	1	2	4	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:136078015G>A	ENST00000383202.2	-	27	3167	c.2911C>T	c.(2911-2913)Cga>Tga	p.R971*	STAG1_ENST00000536929.1_Nonsense_Mutation_p.R555*|STAG1_ENST00000434713.2_Nonsense_Mutation_p.R711*|STAG1_ENST00000236698.5_Nonsense_Mutation_p.R971*	NM_005862.2	NP_005853.2	Q8WVM7	STAG1_HUMAN	stromal antigen 1	971					chromosome segregation (GO:0007059)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	cell junction (GO:0030054)|chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						ACTGCTTCTCGTGTCTTAATC	0.413																																						ENST00000383202.2																			0				NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						c.(2911-2913)Cga>Tga		stromal antigen 1							145	131	136					3																	136078015		2203	4300	6503	SO:0001587	stop_gained	10274				cell division|chromosome segregation|mitotic metaphase/anaphase transition|mitotic prometaphase	cell junction|chromatin|chromosome, centromeric region|nucleoplasm	protein binding	g.chr3:136078015G>A	Z75330	CCDS3090.1	3q22.2-q22.3	2011-08-12			ENSG00000118007	ENSG00000118007			11354	protein-coding gene	gene with protein product		604358				9305759	Standard	XM_006713471		Approved	SA-1, SCC3A	uc003era.1	Q8WVM7	OTTHUMG00000159798	ENST00000383202.2:c.2911C>T	3.37:g.136078015G>A	ENSP00000372689:p.Arg971*					STAG1_ENST00000236698.5_Nonsense_Mutation_p.R971*|STAG1_ENST00000536929.1_Nonsense_Mutation_p.R555*|STAG1_ENST00000434713.2_Nonsense_Mutation_p.R711*	p.R971*	NM_005862.2	NP_005853.2	Q8WVM7	STAG1_HUMAN			27	3167	-			971					O00539|Q6P275	Nonsense_Mutation	SNP	ENST00000383202.2	37	c.2911C>T	CCDS3090.1	.	.	.	.	.	.	.	.	.	.	G	40	8.220596	0.98712	.	.	ENSG00000118007	ENST00000383202;ENST00000236698;ENST00000434713;ENST00000536929	.	.	.	5.67	3.66	0.41972	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.0627	0.53570	0.0:0.0:0.416:0.584	.	.	.	.	X	971;971;711;555	.	ENSP00000236698:R971X	R	-	1	2	STAG1	137560705	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.475000	0.60210	1.334000	0.45468	0.655000	0.94253	CGA		0.413	STAG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357366.1	NM_005862		28	30	0	0	0	1	0	28	30					A	136078015	G	A	136078015	4	1	435	1	0	0	0	0	0	1	0	0	15241	1153	40	1	897	1	STAG1	3	136078015	Nonsense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	1407172	136078015	61944415	2061	22986											
IL20RB	53833	broad.mit.edu	37	chr3	136699336	136699336	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccattctgcctgcccctcaGaacctctctgtactctcaac	7	11	5	18	0	4	1	2	0	3	1	6	1	4	1	5	0	5	1	5	0	3	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:136699336G>T	ENST00000329582.4	+	2	366	c.117G>T	c.(115-117)caG>caT	p.Q39H	IL20RB_ENST00000309741.5_5'UTR|IL20RB_ENST00000484501.1_Intron|IL20RB-AS1_ENST00000462176.2_RNA	NM_144717.3	NP_653318.2	Q6UXL0	I20RB_HUMAN	interleukin 20 receptor beta	39	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				homeostasis of number of cells within a tissue (GO:0048873)|immune response-inhibiting signal transduction (GO:0002765)|inflammatory response to antigenic stimulus (GO:0002437)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of T cell proliferation (GO:0042130)|negative regulation of type IV hypersensitivity (GO:0001808)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-4 production (GO:0032753)	integral component of membrane (GO:0016021)				kidney(2)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14						CTGCCCCTCAGAACCTCTCTG	0.512																																						ENST00000329582.4																			0				kidney(2)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14						c.(115-117)caG>caT		interleukin 20 receptor beta							208	196	200					3																	136699336		2203	4300	6503	SO:0001583	missense	53833					integral to membrane	receptor activity	g.chr3:136699336G>T	BC033292	CCDS3093.1	3q22.3	2013-02-11			ENSG00000174564	ENSG00000174564		"Interleukins and interleukin receptors", "Fibronectin type III domain containing"	6004	protein-coding gene	gene with protein product		605621	"fibronectin type III domain containing 6"	FNDC6		11163236, 16703417	Standard	NM_144717		Approved	DIRS1, IL-20R2, MGC34923	uc003eri.2	Q6UXL0	OTTHUMG00000159779	ENST00000329582.4:c.117G>T	3.37:g.136699336G>T	ENSP00000328133:p.Gln39His					IL20RB_ENST00000484501.1_Intron|IL20RB_ENST00000309741.5_5'UTR|IL20RB-AS1_ENST00000462176.2_RNA	p.Q39H	NM_144717.3	NP_653318.2	Q6UXL0	I20RB_HUMAN			2	366	+			39			Fibronectin type-III 1.		B4DL40|Q6P438|Q8IYY5|Q8TAJ7	Missense_Mutation	SNP	ENST00000329582.4	37	c.117G>T	CCDS3093.1	.	.	.	.	.	.	.	.	.	.	G	17.49	3.401717	0.62288	.	.	ENSG00000174564	ENST00000329582	T	0.75367	-0.93	5.58	4.69	0.59074	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.812498	0.10938	N	0.617617	D	0.82641	0.5081	M	0.74647	2.275	0.80722	D	1	D	0.61080	0.989	P	0.57371	0.819	T	0.78964	-0.1996	10	0.51188	T	0.08	-6.0764	10.792	0.46438	0.0886:0.0:0.9114:0.0	.	39	Q6UXL0	I20RB_HUMAN	H	39	ENSP00000328133:Q39H	ENSP00000328133:Q39H	Q	+	3	2	IL20RB	138182026	1.000000	0.71417	1.000000	0.80357	0.880000	0.50808	1.689000	0.37700	1.332000	0.45431	0.650000	0.86243	CAG		0.512	IL20RB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357277.2	NM_144717		63	79	1	0	1.41401e-22	1	1.57312e-22	63	79					T	136699336	G	T	136699336	3	4	435	1	0	0	0	0	1	0	0	0	7669	933	33	5	123	5	IL20RB	3	136699336	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	621321	136699336	61323094	2062	22987											
IL20RB	53833	broad.mit.edu	37	chr3	136714374	136714374	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccagtactcctgttgcccCgtggtggtcctcccagacac	5	10	9	17	1	0	1	0	0	0	1	4	1	4	1	6	2	2	2	6	2	1	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:136714374C>T	ENST00000329582.4	+	6	1050	c.801C>T	c.(799-801)ccC>ccT	p.P267P	IL20RB_ENST00000309741.5_3'UTR	NM_144717.3	NP_653318.2	Q6UXL0	I20RB_HUMAN	interleukin 20 receptor beta	267					homeostasis of number of cells within a tissue (GO:0048873)|immune response-inhibiting signal transduction (GO:0002765)|inflammatory response to antigenic stimulus (GO:0002437)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of T cell proliferation (GO:0042130)|negative regulation of type IV hypersensitivity (GO:0001808)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-4 production (GO:0032753)	integral component of membrane (GO:0016021)				kidney(2)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14						CCTGTTGCCCCGTGGTGGTCC	0.522																																						ENST00000329582.4																			0				kidney(2)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14						c.(799-801)ccC>ccT		interleukin 20 receptor beta							263	263	263					3																	136714374		2203	4300	6503	SO:0001819	synonymous_variant	53833					integral to membrane	receptor activity	g.chr3:136714374C>T	BC033292	CCDS3093.1	3q22.3	2013-02-11			ENSG00000174564	ENSG00000174564		"Interleukins and interleukin receptors", "Fibronectin type III domain containing"	6004	protein-coding gene	gene with protein product		605621	"fibronectin type III domain containing 6"	FNDC6		11163236, 16703417	Standard	NM_144717		Approved	DIRS1, IL-20R2, MGC34923	uc003eri.2	Q6UXL0	OTTHUMG00000159779	ENST00000329582.4:c.801C>T	3.37:g.136714374C>T						IL20RB_ENST00000309741.5_3'UTR	p.P267P	NM_144717.3	NP_653318.2	Q6UXL0	I20RB_HUMAN			6	1050	+			267					B4DL40|Q6P438|Q8IYY5|Q8TAJ7	Silent	SNP	ENST00000329582.4	37	c.801C>T	CCDS3093.1																																																																																				0.522	IL20RB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357277.2	NM_144717		89	128	0	0	0	1	0	89	128					T	136714374	C	T	136714374	2	4	435	1	0	0	0	0	0	0	0	1	7669	639	23	2		2	IL20RB	3	136714374	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	15038	136714374	61308056	2063	22988											
SOX14	8403	broad.mit.edu	37	chr3	137483730	137483730	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggaaaaccccaagatgcacaActcggagatcagcaaacgcc	16	3	9	13	2	1	2	1	0	0	2	2	4	1	3	3	2	5	2	3	2	5	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:137483730A>G	ENST00000306087.1	+	1	152	c.104A>G	c.(103-105)aAc>aGc	p.N35S		NM_004189.3	NP_004180.1	O95416	SOX14_HUMAN	SRY (sex determining region Y)-box 14	35					entrainment of circadian clock (GO:0009649)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|regulation of neuron migration (GO:2001222)|visual perception (GO:0007601)	nuclear transcription factor complex (GO:0044798)	chromatin binding (GO:0003682)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			large_intestine(2)|lung(12)	14						AAGATGCACAACTCGGAGATC	0.592																																						ENST00000306087.1																			0				large_intestine(2)|lung(12)	14						c.(103-105)aAc>aGc		SRY (sex determining region Y)-box 14							98	95	96					3																	137483730		2203	4300	6503	SO:0001583	missense	8403				negative regulation of transcription from RNA polymerase II promoter|nervous system development|transcription, DNA-dependent	nucleus	sequence-specific DNA binding	g.chr3:137483730A>G	AJ006230	CCDS3094.1	3q22-q23	2008-07-18			ENSG00000168875	ENSG00000168875		"SRY (sex determining region Y)-boxes"	11193	protein-coding gene	gene with protein product	"HMG box transcription factor SOX-14", "SRY-box 14"	604747				9925951	Standard	NM_004189		Approved	SOX28	uc003erm.2	O95416	OTTHUMG00000159757	ENST00000306087.1:c.104A>G	3.37:g.137483730A>G	ENSP00000305343:p.Asn35Ser						p.N35S	NM_004189.3	NP_004180.1	O95416	SOX14_HUMAN			1	152	+			35					B2RAC0|Q3KPH7	Missense_Mutation	SNP	ENST00000306087.1	37	c.104A>G	CCDS3094.1	.	.	.	.	.	.	.	.	.	.	A	19.82	3.898972	0.72754	.	.	ENSG00000168875	ENST00000306087	D	0.98150	-4.75	5.08	5.08	0.68730	High mobility group, superfamily (1);High mobility group, HMG1/HMG2 (4);	0.000000	0.85682	D	0.000000	D	0.98201	0.9405	L	0.61387	1.9	0.80722	D	1	D	0.89917	1.0	D	0.73380	0.98	D	0.99331	1.0909	10	0.87932	D	0	.	14.6813	0.69020	1.0:0.0:0.0:0.0	.	35	O95416	SOX14_HUMAN	S	35	ENSP00000305343:N35S	ENSP00000305343:N35S	N	+	2	0	SOX14	138966420	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.117000	0.94347	2.142000	0.66516	0.418000	0.28097	AAC		0.592	SOX14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357182.1	NM_004189		6	6	0	0	0	1	0	6	6					G	137483730	A	G	137483730	3	3	435	1	0	0	0	0	1	0	0	0	14945	43	2	4	106	4	SOX14	3	137483730	Missense_Mutation	SNP	A	TCGA-XK-AAIW-01A-11D-A41K-08	769356	137483730	60538700	2064	22989											
SOX14	8403	broad.mit.edu	37	chr3	137483986	137483986	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcctccgacggcctcctgagCgcgcccgagaaagcccgggc	6	3	14	18	6	0	2	0	1	0	1	2	4	2	2	6	2	2	0	6	2	1	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:137483986C>T	ENST00000306087.1	+	1	408	c.360C>T	c.(358-360)agC>agT	p.S120S		NM_004189.3	NP_004180.1	O95416	SOX14_HUMAN	SRY (sex determining region Y)-box 14	120					entrainment of circadian clock (GO:0009649)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|regulation of neuron migration (GO:2001222)|visual perception (GO:0007601)	nuclear transcription factor complex (GO:0044798)	chromatin binding (GO:0003682)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			large_intestine(2)|lung(12)	14						GCCTCCTGAGCGCGCCCGAGA	0.697																																						ENST00000306087.1																			0				large_intestine(2)|lung(12)	14						c.(358-360)agC>agT		SRY (sex determining region Y)-box 14							29	36	34					3																	137483986		2199	4291	6490	SO:0001819	synonymous_variant	8403				negative regulation of transcription from RNA polymerase II promoter|nervous system development|transcription, DNA-dependent	nucleus	sequence-specific DNA binding	g.chr3:137483986C>T	AJ006230	CCDS3094.1	3q22-q23	2008-07-18			ENSG00000168875	ENSG00000168875		"SRY (sex determining region Y)-boxes"	11193	protein-coding gene	gene with protein product	"HMG box transcription factor SOX-14", "SRY-box 14"	604747				9925951	Standard	NM_004189		Approved	SOX28	uc003erm.2	O95416	OTTHUMG00000159757	ENST00000306087.1:c.360C>T	3.37:g.137483986C>T							p.S120S	NM_004189.3	NP_004180.1	O95416	SOX14_HUMAN			1	408	+			120					B2RAC0|Q3KPH7	Silent	SNP	ENST00000306087.1	37	c.360C>T	CCDS3094.1																																																																																				0.697	SOX14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357182.1	NM_004189		12	15	0	0	0	1	0	12	15					T	137483986	C	T	137483986	2	4	435	1	0	0	0	0	0	0	0	1	14945	767	27	1		1	SOX14	3	137483986	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	256	137483986	60538444	2065	22990											
CLDN18	51208	broad.mit.edu	37	chr3	137717905	137717905	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcttcaccgagtgccggggCtacttcaccctgctggggct	4	9	14	14	2	2	0	2	0	0	0	2	1	2	0	3	5	3	4	3	5	1	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:137717905C>T	ENST00000343735.4	+	1	329	c.195C>T	c.(193-195)ggC>ggT	p.G65G		NM_001002026.2	NP_001002026.1	P56856	CLD18_HUMAN	claudin 18	65					calcium-independent cell-cell adhesion (GO:0016338)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|tight junction assembly (GO:0070830)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	identical protein binding (GO:0042802)|structural molecule activity (GO:0005198)			endometrium(1)|large_intestine(2)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	6						AGTGCCGGGGCTACTTCACCC	0.607																																						ENST00000343735.4																			0				endometrium(1)|large_intestine(2)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	6						c.(193-195)ggC>ggT		claudin 18							62	63	63					3																	137717905		2203	4300	6503	SO:0001819	synonymous_variant	51208				calcium-independent cell-cell adhesion|tight junction assembly	integral to membrane|tight junction	identical protein binding|structural molecule activity	g.chr3:137717905C>T	AF221069, AY102073	CCDS3095.1, CCDS33862.1	3q	2008-08-27			ENSG00000066405	ENSG00000066405		"Claudins"	2039	protein-coding gene	gene with protein product		609210	"surfactant associated protein J"	SFTPJ			Standard	NM_001002026		Approved		uc003ero.1	P56856	OTTHUMG00000159762	ENST00000343735.4:c.195C>T	3.37:g.137717905C>T							p.G65G	NM_001002026.2	NP_001002026.1	P56856	CLD18_HUMAN			1	329	+			65					A5PL21|Q96PH4	Silent	SNP	ENST00000343735.4	37	c.195C>T	CCDS33862.1																																																																																				0.607	CLDN18-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000357198.2	NM_001002026		21	29	0	0	0	1	0	21	29					T	137717905	C	T	137717905	2	4	435	1	0	0	0	0	0	0	0	1	3479	784	28	3		3	CLDN18	3	137717905	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	233919	137717905	60304525	2066	22991											
MRAS	22808	broad.mit.edu	37	chr3	138121062	138121062	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaagaagaaaaccaaatggcGgggagaccgggccacaggca	16	1	15	9	2	0	3	0	0	0	3	0	5	0	3	3	5	1	1	3	5	5	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:138121062G>A	ENST00000289104.4	+	6	1225	c.578G>A	c.(577-579)cGg>cAg	p.R193Q	MRAS_ENST00000474559.1_Missense_Mutation_p.R193Q|MRAS_ENST00000464896.1_Missense_Mutation_p.R117Q|MRAS_ENST00000423968.2_Missense_Mutation_p.R193Q	NM_001085049.2|NM_001252090.1|NM_001252091.1|NM_012219.4	NP_001078518.1|NP_001239019.1|NP_001239020.1|NP_036351.3	O14807	RASM_HUMAN	muscle RAS oncogene homolog	193					actin cytoskeleton organization (GO:0030036)|multicellular organismal development (GO:0007275)|muscle organ development (GO:0007517)|Ras protein signal transduction (GO:0007265)	extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTP-dependent protein binding (GO:0030742)|GTPase activity (GO:0003924)			kidney(1)|large_intestine(2)|lung(8)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	14						ACCAAATGGCGGGGAGACCGG	0.532																																						ENST00000289104.4																			0				kidney(1)|large_intestine(2)|lung(8)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	14						c.(577-579)cGg>cAg		muscle RAS oncogene homolog							57	66	63					3																	138121062		2203	4300	6503	SO:0001583	missense	22808				actin cytoskeleton organization|muscle organ development|Ras protein signal transduction	intracellular|plasma membrane	GTP binding|GTP-dependent protein binding|GTPase activity	g.chr3:138121062G>A	AF022080	CCDS3100.1, CCDS58855.1	3q22.3	2014-05-09			ENSG00000158186	ENSG00000158186			7227	protein-coding gene	gene with protein product		608435				9400994, 10446149	Standard	NM_012219		Approved	M-RAs, R-RAS3, RRAS3	uc003esi.4	O14807	OTTHUMG00000159888	ENST00000289104.4:c.578G>A	3.37:g.138121062G>A	ENSP00000289104:p.Arg193Gln					MRAS_ENST00000464896.1_Missense_Mutation_p.R117Q|MRAS_ENST00000474559.1_Missense_Mutation_p.R193Q|MRAS_ENST00000423968.2_Missense_Mutation_p.R193Q	p.R193Q	NM_001085049.2|NM_001252090.1|NM_001252091.1|NM_012219.4	NP_001078518.1|NP_001239019.1|NP_001239020.1|NP_036351.3	O14807	RASM_HUMAN			6	1225	+			193					B4DIK0|Q86WX8	Missense_Mutation	SNP	ENST00000289104.4	37	c.578G>A	CCDS3100.1	.	.	.	.	.	.	.	.	.	.	G	15.22	2.767560	0.49574	.	.	ENSG00000158186	ENST00000289104;ENST00000423968;ENST00000464896;ENST00000474559	T;T;T;T	0.72942	-0.22;-0.22;-0.7;-0.22	5.39	4.52	0.55395	.	0.000000	0.85682	D	0.000000	T	0.52191	0.1719	N	0.14661	0.345	0.58432	D	0.999997	B	0.12630	0.006	B	0.06405	0.002	T	0.44877	-0.9299	10	0.29301	T	0.29	.	12.0004	0.53226	0.0846:0.0:0.9154:0.0	.	193	O14807	RASM_HUMAN	Q	193;193;117;193	ENSP00000289104:R193Q;ENSP00000389682:R193Q;ENSP00000419582:R117Q;ENSP00000418356:R193Q	ENSP00000289104:R193Q	R	+	2	0	MRAS	139603752	1.000000	0.71417	1.000000	0.80357	0.364000	0.29643	9.266000	0.95659	1.272000	0.44329	0.561000	0.74099	CGG		0.532	MRAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357990.1			3	13	0	0	0	1	0	3	13					A	138121062	G	A	138121062	3	1	435	1	0	0	0	0	1	0	0	0	9755	1116	39	2	596	2	MRAS	3	138121062	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	403157	138121062	59901368	2067	22992											
ESYT3	83850	broad.mit.edu	37	chr3	138178803	138178803	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccagttgcagggcaccctgcGggtcatcctggagcccctcc	5	7	12	17	1	1	0	1	0	0	0	3	1	3	1	6	3	3	3	6	3	0	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:138178803G>A	ENST00000389567.4	+	6	851	c.665G>A	c.(664-666)cGg>cAg	p.R222Q	ESYT3_ENST00000289135.4_Missense_Mutation_p.R222Q	NM_031913.3	NP_114119.2	A0FGR9	ESYT3_HUMAN	extended synaptotagmin-like protein 3	222	Glycerophospholipid-binding barrel-like domain. {ECO:0000250}.				lipid transport (GO:0006869)	extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|integral component of plasma membrane (GO:0005887)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)|organelle membrane contact site (GO:0044232)	lipid binding (GO:0008289)|metal ion binding (GO:0046872)			breast(1)|endometrium(5)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	25						GGCACCCTGCGGGTCATCCTG	0.632																																						ENST00000389567.4																			0				breast(1)|endometrium(5)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	25						c.(664-666)cGg>cAg		extended synaptotagmin-like protein 3							60	62	61					3																	138178803		2203	4300	6503	SO:0001583	missense	83850					integral to membrane|plasma membrane		g.chr3:138178803G>A	AJ303366	CCDS3101.2	3q22.3	2014-07-02	2009-06-23	2009-06-23	ENSG00000158220	ENSG00000158220		"Synaptotagmins"	24295	protein-coding gene	gene with protein product			"family with sequence similarity 62 (C2 domain containing), member C"	FAM62C		11543631, 17672888	Standard	NM_031913		Approved	CHR3SYT	uc003esk.3	A0FGR9	OTTHUMG00000147354	ENST00000389567.4:c.665G>A	3.37:g.138178803G>A	ENSP00000374218:p.Arg222Gln					ESYT3_ENST00000289135.4_Missense_Mutation_p.R222Q	p.R222Q	NM_031913.3	NP_114119.2	A0FGR9	ESYT3_HUMAN			6	851	+			222					A8K0G5|Q6ZV21|Q8NDZ5|Q9BQR9	Missense_Mutation	SNP	ENST00000389567.4	37	c.665G>A	CCDS3101.2	.	.	.	.	.	.	.	.	.	.	G	34	5.304286	0.95601	.	.	ENSG00000158220	ENST00000389567;ENST00000289135	D;D	0.82081	-1.57;-1.57	5.23	5.23	0.72850	.	0.000000	0.85682	D	0.000000	D	0.84361	0.5455	M	0.86805	2.84	0.50632	D	0.999889	D	0.53151	0.958	B	0.38428	0.273	D	0.88591	0.3143	10	0.87932	D	0	-14.9075	16.3005	0.82807	0.0:0.0:1.0:0.0	.	222	A0FGR9	ESYT3_HUMAN	Q	222	ENSP00000374218:R222Q;ENSP00000289135:R222Q	ENSP00000289135:R222Q	R	+	2	0	ESYT3	139661493	1.000000	0.71417	0.976000	0.42696	0.992000	0.81027	8.488000	0.90458	2.435000	0.82474	0.542000	0.68232	CGG		0.632	ESYT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000303993.1	NM_031913		3	38	0	0	0	1	0	3	38					A	138178803	G	A	138178803	3	1	435	1	0	0	0	0	1	0	0	0	5266	1116	39	2	687	2	ESYT3	3	138178803	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	57741	138178803	59843627	2068	22993											
ESYT3	83850	broad.mit.edu	37	chr3	138189867	138189867	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctccatgaggctggtgcttcGggtaaatctctccggtcccc	5	11	11	14	2	1	1	0	1	1	0	6	1	4	1	4	4	1	3	4	4	2	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:138189867G>A	ENST00000389567.4	+	17	1925	c.1739G>A	c.(1738-1740)cGg>cAg	p.R580Q		NM_031913.3	NP_114119.2	A0FGR9	ESYT3_HUMAN	extended synaptotagmin-like protein 3	580					lipid transport (GO:0006869)	extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|integral component of plasma membrane (GO:0005887)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)|organelle membrane contact site (GO:0044232)	lipid binding (GO:0008289)|metal ion binding (GO:0046872)			breast(1)|endometrium(5)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	25						CTGGTGCTTCGGGTAAATCTC	0.592																																						ENST00000389567.4																			0				breast(1)|endometrium(5)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	25						c.e17+1		extended synaptotagmin-like protein 3							66	66	66					3																	138189867		1910	4133	6043	SO:0001630	splice_region_variant	83850					integral to membrane|plasma membrane		g.chr3:138189867G>A	AJ303366	CCDS3101.2	3q22.3	2014-07-02	2009-06-23	2009-06-23	ENSG00000158220	ENSG00000158220		"Synaptotagmins"	24295	protein-coding gene	gene with protein product			"family with sequence similarity 62 (C2 domain containing), member C"	FAM62C		11543631, 17672888	Standard	NM_031913		Approved	CHR3SYT	uc003esk.3	A0FGR9	OTTHUMG00000147354	ENST00000389567.4:c.1740+1G>A	3.37:g.138189867G>A							p.R580_splice	NM_031913.3	NP_114119.2	A0FGR9	ESYT3_HUMAN			17	1925	+			580					A8K0G5|Q6ZV21|Q8NDZ5|Q9BQR9	Splice_Site	SNP	ENST00000389567.4	37	c.1740_splice	CCDS3101.2	.	.	.	.	.	.	.	.	.	.	G	27.5	4.835369	0.91117	.	.	ENSG00000158220	ENST00000389567	T	0.72282	-0.64	4.73	4.73	0.59995	C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.64402	D	0.000003	D	0.82421	0.5033	M	0.73962	2.25	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	D	0.84130	0.0411	10	0.66056	D	0.02	-12.8714	13.0591	0.58997	0.0:0.0:1.0:0.0	.	580	A0FGR9	ESYT3_HUMAN	Q	580	ENSP00000374218:R580Q	ENSP00000374218:R580Q	R	+	2	0	ESYT3	139672557	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	6.357000	0.73051	2.447000	0.82792	0.561000	0.74099	CGG		0.592	ESYT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000303993.1	NM_031913	Missense_Mutation	22	31	0	0	0	1	0	22	31					A	138189867	G	A	138189867	5	1	435	1	0	0	0	0	0	0	1	0	5266	1130	39	2	1805	2	ESYT3	3	138189867	Splice_Site	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	11064	138189867	59832563	2069	22994											
ESYT3	83850	broad.mit.edu	37	chr3	138191607	138191607	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aatgccctgcctccccattcGcatggccgcccaagaggctg	7	7	10	17	2	0	1	0	0	0	1	2	1	1	1	6	2	2	2	6	2	2	1	rs559046448	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:138191607G>A	ENST00000389567.4	+	18	2329	c.2143G>A	c.(2143-2145)Gca>Aca	p.A715T		NM_031913.3	NP_114119.2	A0FGR9	ESYT3_HUMAN	extended synaptotagmin-like protein 3	715					lipid transport (GO:0006869)	extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|integral component of plasma membrane (GO:0005887)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)|organelle membrane contact site (GO:0044232)	lipid binding (GO:0008289)|metal ion binding (GO:0046872)			breast(1)|endometrium(5)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	25						CTCCCCATTCGCATGGCCGCC	0.577													G|||	2	0.000399361	0	0	5008	,	,		18917	0.002		0	False		,,,				2504	0					ENST00000389567.4																			0				breast(1)|endometrium(5)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	25						c.(2143-2145)Gca>Aca		extended synaptotagmin-like protein 3							86	96	93					3																	138191607		2079	4212	6291	SO:0001583	missense	83850					integral to membrane|plasma membrane		g.chr3:138191607G>A	AJ303366	CCDS3101.2	3q22.3	2014-07-02	2009-06-23	2009-06-23	ENSG00000158220	ENSG00000158220		"Synaptotagmins"	24295	protein-coding gene	gene with protein product			"family with sequence similarity 62 (C2 domain containing), member C"	FAM62C		11543631, 17672888	Standard	NM_031913		Approved	CHR3SYT	uc003esk.3	A0FGR9	OTTHUMG00000147354	ENST00000389567.4:c.2143G>A	3.37:g.138191607G>A	ENSP00000374218:p.Ala715Thr						p.A715T	NM_031913.3	NP_114119.2	A0FGR9	ESYT3_HUMAN			18	2329	+			715					A8K0G5|Q6ZV21|Q8NDZ5|Q9BQR9	Missense_Mutation	SNP	ENST00000389567.4	37	c.2143G>A	CCDS3101.2	.	.	.	.	.	.	.	.	.	.	G	12.35	1.913050	0.33815	.	.	ENSG00000158220	ENST00000389567	T	0.37584	1.19	4.97	4.02	0.46733	.	0.350621	0.25555	N	0.029876	T	0.25680	0.0625	L	0.44542	1.39	0.80722	D	1	B	0.28208	0.203	B	0.19666	0.026	T	0.03662	-1.1015	10	0.18276	T	0.48	-17.6577	9.6355	0.39804	0.0:0.0:0.777:0.2229	.	715	A0FGR9	ESYT3_HUMAN	T	715	ENSP00000374218:A715T	ENSP00000374218:A715T	A	+	1	0	ESYT3	139674297	0.047000	0.20315	0.997000	0.53966	0.981000	0.71138	0.941000	0.29005	2.580000	0.87095	0.462000	0.41574	GCA		0.577	ESYT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000303993.1	NM_031913		28	39	0	0	0	1	0	28	39					A	138191607	G	A	138191607	3	1	435	1	0	0	0	0	1	0	0	0	5266	1087	38	1	2213	1	ESYT3	3	138191607	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	1740	138191607	59830823	2070	22995											
PRR23C	389152	broad.mit.edu	37	chr3	138763018	138763018	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtaggcctcttcctcggcagCgatctctgggacagatgcgc	6	9	13	13	3	2	1	0	0	2	1	5	3	3	2	2	3	2	2	2	3	1	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:138763018C>T	ENST00000413199.1	-	1	716	c.445G>A	c.(445-447)Gct>Act	p.A149T	MRPS22_ENST00000495075.1_Intron|PRR23C_ENST00000502927.2_Missense_Mutation_p.A149T	NM_001134657.1	NP_001128129.1	Q6ZRP0	PR23C_HUMAN	proline rich 23C	149										breast(2)|lung(7)|skin(2)	11						TCCTCGGCAGCGATCTCTGGG	0.667																																						ENST00000413199.1																			0				breast(2)|lung(7)|skin(2)	11						c.(445-447)Gct>Act		proline rich 23C							38	40	39					3																	138763018		692	1591	2283	SO:0001583	missense	389152							g.chr3:138763018C>T		CCDS46924.1	3q22.3	2014-06-03				ENSG00000233701			37173	protein-coding gene	gene with protein product							Standard	NM_001134657		Approved	FLJ46210	uc011bmt.1	Q6ZRP0		ENST00000413199.1:c.445G>A	3.37:g.138763018C>T	ENSP00000396648:p.Ala149Thr					PRR23C_ENST00000502927.2_Missense_Mutation_p.A149T|MRPS22_ENST00000495075.1_Intron	p.A149T	NM_001134657.1	NP_001128129.1	Q6ZRP0	PR23C_HUMAN			1	716	-			149						Missense_Mutation	SNP	ENST00000413199.1	37	c.445G>A	CCDS46924.1	.	.	.	.	.	.	.	.	.	.	C	15.52	2.857731	0.51376	.	.	ENSG00000233701	ENST00000413199;ENST00000502927	.	.	.	2.89	1.94	0.25998	.	1.397370	0.05141	N	0.494262	T	0.59742	0.2216	M	0.64997	1.995	0.09310	N	1	D	0.76494	0.999	D	0.80764	0.994	T	0.33523	-0.9865	9	0.44086	T	0.13	.	6.8157	0.23829	0.2775:0.7225:0.0:0.0	.	149	Q6ZRP0	PR23C_HUMAN	T	149	.	ENSP00000396648:A149T	A	-	1	0	PRR23C	140245708	0.006000	0.16342	0.001000	0.08648	0.019000	0.09904	0.626000	0.24492	0.728000	0.32382	0.455000	0.32223	GCT		0.667	PRR23C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361502.1	NM_001134657		4	8	0	0	0	1	0	4	8					T	138763018	C	T	138763018	3	4	435	1	0	0	0	0	1	0	0	0	12596	768	27	1	347	1	PRR23C	3	138763018	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	571411	138763018	59259412	2071	22996											
COPB2	9276	broad.mit.edu	37	chr3	139085507	139085507	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtccctccgcatgacagctGtctggtattccaggactgaa	9	10	10	12	1	1	2	0	2	1	0	4	3	4	3	3	2	1	3	3	2	2	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:139085507G>A	ENST00000333188.5	-	15	1968	c.1787C>T	c.(1786-1788)aCa>aTa	p.T596I	COPB2_ENST00000507777.1_Missense_Mutation_p.T567I	NM_004766.2	NP_004757.1	P35606	COPB2_HUMAN	coatomer protein complex, subunit beta 2 (beta prime)	596					COPI coating of Golgi vesicle (GO:0048205)|intra-Golgi vesicle-mediated transport (GO:0006891)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	COPI vesicle coat (GO:0030126)|cytosol (GO:0005829)	structural molecule activity (GO:0005198)			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	24						CATGACAGCTGTCTGGTATTC	0.453																																						ENST00000333188.5																			0				breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	24						c.(1786-1788)aCa>aTa		coatomer protein complex, subunit beta 2 (beta prime)							87	92	90					3																	139085507		2203	4300	6503	SO:0001583	missense	9276				COPI coating of Golgi vesicle|intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol	protein binding|structural molecule activity	g.chr3:139085507G>A	BC000326	CCDS3108.1	3q23	2013-01-10			ENSG00000184432	ENSG00000184432		"WD repeat domain containing"	2232	protein-coding gene	gene with protein product		606990				9858824	Standard	NM_004766		Approved	beta'-COP, betaprime-COP	uc003etf.4	P35606	OTTHUMG00000159959	ENST00000333188.5:c.1787C>T	3.37:g.139085507G>A	ENSP00000329419:p.Thr596Ile					COPB2_ENST00000507777.1_Missense_Mutation_p.T567I	p.T596I	NM_004766.2	NP_004757.1	P35606	COPB2_HUMAN			15	1968	-			596					B4DZI8	Missense_Mutation	SNP	ENST00000333188.5	37	c.1787C>T	CCDS3108.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.018582	0.75275	.	.	ENSG00000184432	ENST00000333188;ENST00000507777	T;T	0.65364	-0.15;-0.04	5.83	5.83	0.93111	Coatomer, WD associated region (1);	0.000000	0.85682	D	0.000000	D	0.84538	0.5494	M	0.93328	3.405	0.80722	D	1	P	0.49185	0.92	P	0.62560	0.904	D	0.87113	0.2186	10	0.66056	D	0.02	-17.7806	20.1197	0.97955	0.0:0.0:1.0:0.0	.	596	P35606	COPB2_HUMAN	I	596;567	ENSP00000329419:T596I;ENSP00000422295:T567I	ENSP00000329419:T596I	T	-	2	0	COPB2	140568197	1.000000	0.71417	0.972000	0.41901	0.977000	0.68977	9.765000	0.98953	2.770000	0.95276	0.650000	0.86243	ACA		0.453	COPB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358495.2	NM_004766		34	38	0	0	0	1	0	34	38					A	139085507	G	A	139085507	3	1	435	1	0	0	0	0	1	0	0	0	3729	1377	48	3	965	3	COPB2	3	139085507	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	322489	139085507	58936923	2072	22997											
COPB2	9276	broad.mit.edu	37	chr3	139088199	139088199	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgactcccaataagaagccGccgtagatacctaaagggaa	15	6	9	11	2	0	3	0	1	0	2	1	4	1	4	4	1	2	1	4	1	8	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:139088199G>A	ENST00000333188.5	-	12	1486	c.1305C>T	c.(1303-1305)ggC>ggT	p.G435G	COPB2_ENST00000507777.1_Silent_p.G406G	NM_004766.2	NP_004757.1	P35606	COPB2_HUMAN	coatomer protein complex, subunit beta 2 (beta prime)	435					COPI coating of Golgi vesicle (GO:0048205)|intra-Golgi vesicle-mediated transport (GO:0006891)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	COPI vesicle coat (GO:0030126)|cytosol (GO:0005829)	structural molecule activity (GO:0005198)			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	24						ATAAGAAGCCGCCGTAGATAC	0.368																																						ENST00000333188.5																			0				breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	24						c.(1303-1305)ggC>ggT		coatomer protein complex, subunit beta 2 (beta prime)							74	83	80					3																	139088199		2203	4300	6503	SO:0001819	synonymous_variant	9276				COPI coating of Golgi vesicle|intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol	protein binding|structural molecule activity	g.chr3:139088199G>A	BC000326	CCDS3108.1	3q23	2013-01-10			ENSG00000184432	ENSG00000184432		"WD repeat domain containing"	2232	protein-coding gene	gene with protein product		606990				9858824	Standard	NM_004766		Approved	beta'-COP, betaprime-COP	uc003etf.4	P35606	OTTHUMG00000159959	ENST00000333188.5:c.1305C>T	3.37:g.139088199G>A						COPB2_ENST00000507777.1_Silent_p.G406G	p.G435G	NM_004766.2	NP_004757.1	P35606	COPB2_HUMAN			12	1486	-			435					B4DZI8	Silent	SNP	ENST00000333188.5	37	c.1305C>T	CCDS3108.1																																																																																				0.368	COPB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358495.2	NM_004766		15	82	0	0	0	1	0	15	82					A	139088199	G	A	139088199	2	1	435	1	0	0	0	0	0	0	0	1	3729	1074	38	1		1	COPB2	3	139088199	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	2692	139088199	58934231	2073	22998											
CLSTN2	64084	broad.mit.edu	37	chr3	140265510	140265510	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	taattccttggaaagccttgGccaaggaataaaggtaaggc	14	9	11	7	0	0	0	0	0	0	0	1	2	1	2	3	5	1	1	3	5	7	6			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:140265510G>A	ENST00000458420.3	+	10	1851	c.1661G>A	c.(1660-1662)gGc>gAc	p.G554D		NM_022131.2	NP_071414.2	Q9H4D0	CSTN2_HUMAN	calsyntenin 2	554					homophilic cell adhesion (GO:0007156)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	87						GAAAGCCTTGGCCAAGGAATA	0.547										HNSCC(16;0.037)																											GBM(45;858 913 3709 36904 37282)	ENST00000458420.3																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	87						c.(1660-1662)gGc>gAc		calsyntenin 2							39	36	37					3																	140265510		2203	4300	6503	SO:0001583	missense	64084				homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding	g.chr3:140265510G>A	AJ278018	CCDS3112.1	3q23	2011-07-01			ENSG00000158258	ENSG00000158258		"Cadherins / Cadherin-related"	17448	protein-coding gene	gene with protein product	"cadherin-related family member 13"	611323				12498782	Standard	NM_022131		Approved	CSTN2, CS2, FLJ39113, CDHR13	uc003etn.3	Q9H4D0	OTTHUMG00000160139	ENST00000458420.3:c.1661G>A	3.37:g.140265510G>A	ENSP00000402460:p.Gly554Asp	HNSCC(16;0.037)					p.G554D	NM_022131.2	NP_071414.2	Q9H4D0	CSTN2_HUMAN			10	1851	+			554					B2RCW5|D3DNF4|Q3SX54|Q3ZB76|Q5UE56|Q96HZ2|Q9BSS0	Missense_Mutation	SNP	ENST00000458420.3	37	c.1661G>A	CCDS3112.1	.	.	.	.	.	.	.	.	.	.	G	13.28	2.189896	0.38707	.	.	ENSG00000158258	ENST00000458420	T	0.39997	1.05	5.21	5.21	0.72293	.	0.100072	0.64402	D	0.000002	T	0.45337	0.1337	M	0.75264	2.295	0.48236	D	0.999618	B	0.21753	0.06	B	0.17433	0.018	T	0.37663	-0.9696	9	.	.	.	-2.1772	16.2435	0.82429	0.0:0.0:1.0:0.0	.	554	Q9H4D0	CSTN2_HUMAN	D	554	ENSP00000402460:G554D	.	G	+	2	0	CLSTN2	141748200	1.000000	0.71417	0.995000	0.50966	0.984000	0.73092	4.074000	0.57577	2.420000	0.82092	0.455000	0.32223	GGC		0.547	CLSTN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359393.3	NM_022131		9	12	0	0	0	1	0	9	12					A	140265510	G	A	140265510	3	1	435	1	0	0	0	0	1	0	0	0	3562	1203	42	3	1699	3	CLSTN2	3	140265510	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	1177311	140265510	57756920	2074	22999											
TRIM42	287015	broad.mit.edu	37	chr3	140409974	140409974	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctgacccccaacacagaataCgtgtttaaagttagagccat	14	9	7	11	1	0	3	0	1	0	2	0	3	0	3	3	0	3	2	3	0	6	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:140409974C>T	ENST00000286349.3	+	4	2216	c.2025C>T	c.(2023-2025)taC>taT	p.Y675Y		NM_152616.4	NP_689829.3	Q8IWZ5	TRI42_HUMAN	tripartite motif containing 42	675	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.					intracellular (GO:0005622)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(11)|lung(33)|ovary(2)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						ACACAGAATACGTGTTTAAAG	0.423																																						ENST00000286349.3																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(11)|lung(33)|ovary(2)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						c.(2023-2025)taC>taT		tripartite motif containing 42							152	147	149					3																	140409974		2203	4300	6503	SO:0001819	synonymous_variant	287015					intracellular	zinc ion binding	g.chr3:140409974C>T	AF521868	CCDS3113.1	3q23	2014-02-17	2011-01-25		ENSG00000155890	ENSG00000155890		"Tripartite motif containing / Tripartite motif containing", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "Fibronectin type III domain containing", "RING-type (C3HC4) zinc fingers"	19014	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 40"		"tripartite motif-containing 42"				Standard	NM_152616		Approved	FLJ40097, PPP1R40	uc003eto.2	Q8IWZ5	OTTHUMG00000160170	ENST00000286349.3:c.2025C>T	3.37:g.140409974C>T							p.Y675Y	NM_152616.4	NP_689829.3	Q8IWZ5	TRI42_HUMAN			4	2216	+			675			Fibronectin type-III.		A1L4B4|Q8N832|Q8NDL3	Silent	SNP	ENST00000286349.3	37	c.2025C>T	CCDS3113.1																																																																																				0.423	TRIM42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359531.2	NM_152616		50	80	0	0	0	1	0	50	80					T	140409974	C	T	140409974	2	4	435	1	0	0	0	0	0	0	0	1	16514	547	19	1		1	TRIM42	3	140409974	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	144464	140409974	57612456	2075	23000											
ACPL2	92370	broad.mit.edu	37	chr3	141011925	141011925	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tctgccaagaccaccacaagCgttctcccaagcccatgtgc	10	7	7	17	1	2	1	0	0	2	1	3	1	2	1	5	0	4	1	5	0	3	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:141011925C>T	ENST00000286353.4	+	6	1458	c.1321C>T	c.(1321-1323)Cgt>Tgt	p.R441C	ACPL2_ENST00000393007.1_Missense_Mutation_p.R425C|ACPL2_ENST00000504264.1_Missense_Mutation_p.R424C|ACPL2_ENST00000393010.2_Missense_Mutation_p.R441C|ACPL2_ENST00000502783.1_Missense_Mutation_p.R403C|RP11-438D8.2_ENST00000507698.1_RNA|ACPL2_ENST00000508812.1_Missense_Mutation_p.R432C	NM_001037172.1|NM_001282728.1	NP_001032249.1|NP_001269657.1	Q8TE99	PXYP1_HUMAN		441						extracellular region (GO:0005576)	acid phosphatase activity (GO:0003993)			endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|prostate(2)|skin(2)	23						CCACCACAAGCGTTCTCCCAA	0.493																																						ENST00000508812.1																			0				endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|prostate(2)|skin(2)	23						c.(1294-1296)Cgt>Tgt		acid phosphatase-like 2							100	97	98					3																	141011925		2203	4300	6503	SO:0001583	missense	92370					extracellular region	acid phosphatase activity	g.chr3:141011925C>T																												ENST00000286353.4:c.1321C>T	3.37:g.141011925C>T	ENSP00000286353:p.Arg441Cys					ACPL2_ENST00000502783.1_Missense_Mutation_p.R403C|ACPL2_ENST00000504264.1_Missense_Mutation_p.R424C|ACPL2_ENST00000286353.4_Missense_Mutation_p.R441C|ACPL2_ENST00000393007.1_Missense_Mutation_p.R425C|RP11-438D8.2_ENST00000507698.1_RNA|ACPL2_ENST00000393010.2_Missense_Mutation_p.R441C	p.R432C			Q8TE99	ACPL2_HUMAN			5	3201	+			441					D3DNF5|Q49AJ2|W0TR04	Missense_Mutation	SNP	ENST00000286353.4	37	c.1294C>T	CCDS3116.1	.	.	.	.	.	.	.	.	.	.	C	17.63	3.436909	0.62955	.	.	ENSG00000155893	ENST00000286353;ENST00000502783;ENST00000393010;ENST00000504264;ENST00000508812;ENST00000393007	T;T;T;T;T;T	0.76839	-1.05;-1.05;-1.05;-1.05;-1.05;-1.05	5.72	5.72	0.89469	.	0.486738	0.24828	N	0.035266	T	0.68265	0.2982	L	0.40543	1.245	0.58432	D	0.999997	D;D	0.56968	0.978;0.978	B;B	0.40410	0.306;0.328	T	0.68827	-0.5306	10	0.35671	T	0.21	.	12.3507	0.55146	0.1684:0.8316:0.0:0.0	.	424;441	B7Z3R9;Q8TE99	.;ACPL2_HUMAN	C	441;403;441;424;432;425	ENSP00000286353:R441C;ENSP00000422558:R403C;ENSP00000376733:R441C;ENSP00000426877:R424C;ENSP00000422901:R432C;ENSP00000376731:R425C	ENSP00000286353:R441C	R	+	1	0	ACPL2	142494615	1.000000	0.71417	0.867000	0.34043	0.952000	0.60782	4.727000	0.61993	2.691000	0.91804	0.655000	0.94253	CGT		0.493	ACPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359533.2			33	56	0	0	0	1	0	33	56					T	141011925	C	T	141011925	3	4	435	1	0	0	0	0	1	0	0	0	166	768	27	1	1339	1	ACPL2	3	141011925	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	601951	141011925	57010505	2076	23001											
RASA2	5922	broad.mit.edu	37	chr3	141290329	141290329	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttttgccccttgtacgactgCtgctgcaccatgataaactt	8	14	7	12	1	0	1	0	1	0	0	0	2	0	1	3	0	6	4	3	0	3	6			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:141290329C>T	ENST00000452898.1	+	11	1137	c.1102C>T	c.(1102-1104)Ctg>Ttg	p.L368L	RASA2_ENST00000286364.3_Silent_p.L368L	NM_006506.2	NP_006497.2	Q15283	RASA2_HUMAN	RAS p21 protein activator 2	368	Ras-GAP. {ECO:0000255|PROSITE- ProRule:PRU00167}.				intracellular signal transduction (GO:0035556)|negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	metal ion binding (GO:0046872)|Ras GTPase activator activity (GO:0005099)			NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	34						TGTACGACTGCTGCTGCACCA	0.368																																						ENST00000286364.3																			0				NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	34						c.(1102-1104)Ctg>Ttg		RAS p21 protein activator 2							198	188	191					3																	141290329		2203	4300	6503	SO:0001819	synonymous_variant	5922				intracellular signal transduction|negative regulation of Ras protein signal transduction	intracellular membrane-bounded organelle|intrinsic to internal side of plasma membrane|perinuclear region of cytoplasm	metal ion binding|Ras GTPase activator activity	g.chr3:141290329C>T	AF115573	CCDS3117.1	3q22-q23	2013-01-10			ENSG00000155903	ENSG00000155903		"Pleckstrin homology (PH) domain containing"	9872	protein-coding gene	gene with protein product		601589				8699317	Standard	NM_006506		Approved	GAP1M	uc003etz.1	Q15283	OTTHUMG00000160221	ENST00000452898.1:c.1102C>T	3.37:g.141290329C>T						RASA2_ENST00000452898.1_Silent_p.L368L	p.L368L			Q15283	RASA2_HUMAN			11	1137	+			368			Ras-GAP.		A8K7K1|G3V0F9|O00695|Q15284|Q92594|Q99577|Q9UEQ2	Silent	SNP	ENST00000452898.1	37	c.1102C>T																																																																																					0.368	RASA2-201	KNOWN	basic	protein_coding	protein_coding		NM_006506		41	75	0	0	0	1	0	41	75					T	141290329	C	T	141290329	2	4	435	1	0	0	0	0	0	0	0	1	13061	796	28	3		3	RASA2	3	141290329	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	278404	141290329	56732101	2077	23002											
XRN1	54464	broad.mit.edu	37	chr3	142137378	142137378	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcaacccccatcttcgtcatGtaatatgttcttttatattg	9	18	4	10	1	4	0	2	0	2	0	5	0	4	0	2	0	1	2	2	0	5	8			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:142137378G>A	ENST00000264951.4	-	12	1431	c.1314C>T	c.(1312-1314)taC>taT	p.Y438Y	XRN1_ENST00000463916.1_Silent_p.Y438Y|XRN1_ENST00000392981.2_Silent_p.Y438Y|RNU1-100P_ENST00000365255.1_RNA|XRN1_ENST00000544157.1_Silent_p.Y228Y	NM_019001.3	NP_061874.3	Q8IZH2	XRN1_HUMAN	5'-3' exoribonuclease 1	438					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|histone mRNA catabolic process (GO:0071044)|mRNA metabolic process (GO:0016071)|nuclear mRNA surveillance (GO:0071028)|nuclear-transcribed mRNA catabolic process (GO:0000956)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)|rRNA catabolic process (GO:0016075)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|membrane (GO:0016020)	5'-3' exonuclease activity (GO:0008409)|DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(3)|endometrium(6)|kidney(12)|large_intestine(11)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	61						TCTTCGTCATGTAATATGTTC	0.303																																						ENST00000264951.4																			0				NS(1)|breast(3)|endometrium(6)|kidney(12)|large_intestine(11)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	61						c.(1312-1314)taC>taT		5'-3' exoribonuclease 1							151	149	149					3																	142137378		2203	4298	6501	SO:0001819	synonymous_variant	54464				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|histone mRNA catabolic process|nuclear mRNA surveillance|rRNA catabolic process	cytosol|Golgi apparatus|intermediate filament cytoskeleton|plasma membrane	5'-3' exonuclease activity|DNA binding|protein binding|RNA binding	g.chr3:142137378G>A	AY137776	CCDS3123.1, CCDS63801.1, CCDS75028.1	3q23	2008-02-05			ENSG00000114127	ENSG00000114127			30654	protein-coding gene	gene with protein product		607994				12515382	Standard	XM_005247544		Approved	SEP1	uc003eus.3	Q8IZH2	OTTHUMG00000159251	ENST00000264951.4:c.1314C>T	3.37:g.142137378G>A						XRN1_ENST00000392981.2_Silent_p.Y438Y|XRN1_ENST00000463916.1_Silent_p.Y438Y|XRN1_ENST00000544157.1_Silent_p.Y228Y	p.Y438Y	NM_019001.3	NP_061874.3	Q8IZH2	XRN1_HUMAN			12	1431	-			438					Q4G0S3|Q68D88|Q6AI24|Q6MZS8|Q86WS7|Q8N8U4|Q9UF39	Silent	SNP	ENST00000264951.4	37	c.1314C>T	CCDS3123.1																																																																																				0.303	XRN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000354087.2	NM_019001		6	54	0	0	0	1	0	6	54					A	142137378	G	A	142137378	2	1	435	1	0	0	0	0	0	0	0	1	17456	1372	48	3		3	XRN1	3	142137378	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	847049	142137378	55885052	2078	23003											
ATR	545	broad.mit.edu	37	chr3	142180885	142180885	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtggaataactgcatatgtTcgaatatgaagttctcttct	12	15	8	6	1	2	1	0	1	2	0	4	3	2	2	0	1	2	3	0	1	6	6			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:142180885T>C	ENST00000350721.4	-	42	7210	c.7089A>G	c.(7087-7089)cgA>cgG	p.R2363R	ATR_ENST00000383101.3_Silent_p.R2299R	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ATR serine/threonine kinase	2363	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.				cell cycle (GO:0007049)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|cellular response to UV (GO:0034644)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|multicellular organismal development (GO:0007275)|negative regulation of DNA replication (GO:0008156)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|protein autophosphorylation (GO:0046777)|regulation of protein binding (GO:0043393)|replicative senescence (GO:0090399)|response to drug (GO:0042493)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|PML body (GO:0016605)|XY body (GO:0001741)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|MutLalpha complex binding (GO:0032405)|MutSalpha complex binding (GO:0032407)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						CTGCATATGTTCGAATATGAA	0.313								Other conserved DNA damage response genes																														ENST00000350721.4																			0				NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						c.(7087-7089)cgA>cgG	Other conserved DNA damage response genes	ataxia telangiectasia and Rad3 related							120	122	121					3																	142180885		2203	4298	6501	SO:0001819	synonymous_variant	545				cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence	PML body	ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity	g.chr3:142180885T>C	U76308	CCDS3124.1	3q23	2014-06-17	2014-06-17		ENSG00000175054	ENSG00000175054			882	protein-coding gene	gene with protein product	"MEC1, mitosis entry checkpoint 1, homolog (S. cerevisiae)"	601215	"ataxia telangiectasia and Rad3 related"			8978690, 8610130	Standard	NM_001184		Approved	FRP1, SCKL, SCKL1, MEC1	uc003eux.4	Q13535	OTTHUMG00000159234	ENST00000350721.4:c.7089A>G	3.37:g.142180885T>C						ATR_ENST00000383101.3_Silent_p.R2299R	p.R2363R	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN			42	7210	-			2363			PI3K/PI4K.		Q59HB2|Q7KYL3|Q93051|Q9BXK4	Silent	SNP	ENST00000350721.4	37	c.7089A>G	CCDS3124.1	.	.	.	.	.	.	.	.	.	.	T	9.534	1.111691	0.20714	.	.	ENSG00000175054	ENST00000513291	.	.	.	5.34	5.34	0.76211	.	.	.	.	.	T	0.48943	0.1528	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.50898	-0.8773	4	.	.	.	-1.677	4.1865	0.10400	0.0:0.1842:0.1797:0.6361	.	.	.	.	D	210	.	.	N	-	1	0	ATR	143663575	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	0.638000	0.24674	2.156000	0.67533	0.533000	0.62120	AAC		0.313	ATR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353995.2	NM_001184		44	95	0	0	0	1	0	44	95					C	142180885	T	C	142180885	2	2	435	1	0	0	0	0	0	0	0	1	1204	1770	62	4		4	ATR	3	142180885	Silent	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	43507	142180885	55841545	2079	23004											
PLS1	5357	broad.mit.edu	37	chr3	142402951	142402951	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	aaaacctcacttggtcttggGacttctctggcagatcatca	10	12	8	11	0	5	1	3	0	2	1	6	2	5	2	1	3	1	1	1	3	2	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:142402951G>A	ENST00000337777.3	+	7	896	c.683G>A	c.(682-684)gGa>gAa	p.G228E	PLS1_ENST00000457734.2_Missense_Mutation_p.G228E|PLS1_ENST00000497002.1_Missense_Mutation_p.G228E	NM_002670.2	NP_002661.2	Q14651	PLSI_HUMAN	plastin 1	228	Actin-binding 1.|CH 1. {ECO:0000255|PROSITE- ProRule:PRU00044}.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	27						TTGGTCTTGGGACTTCTCTGG	0.398																																						ENST00000337777.3																			0				NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	27						c.(682-684)gGa>gAa		plastin 1							169	158	162					3																	142402951		2203	4300	6503	SO:0001583	missense	5357					cytoplasm	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	g.chr3:142402951G>A	L20826	CCDS3125.1	3q23	2013-01-10	2010-02-10		ENSG00000120756	ENSG00000120756		"EF-hand domain containing"	9090	protein-coding gene	gene with protein product		602734	"plastin 1 (I isoform)"			8139549	Standard	NM_002670		Approved	I-plastin, Plastin-1	uc003euz.3	Q14651	OTTHUMG00000159292	ENST00000337777.3:c.683G>A	3.37:g.142402951G>A	ENSP00000336831:p.Gly228Glu					PLS1_ENST00000497002.1_Missense_Mutation_p.G228E|PLS1_ENST00000457734.2_Missense_Mutation_p.G228E	p.G228E	NM_002670.2	NP_002661.2	Q14651	PLSI_HUMAN			7	896	+			228			Actin-binding 1.|CH 1.		A8K2Q1|D3DNG3|Q8NEG6	Missense_Mutation	SNP	ENST00000337777.3	37	c.683G>A	CCDS3125.1	.	.	.	.	.	.	.	.	.	.	G	29.9	5.042810	0.93685	.	.	ENSG00000120756	ENST00000457734;ENST00000476044;ENST00000337777;ENST00000497002	D;D;D;D	0.95001	-3.58;-3.58;-3.58;-3.58	5.12	5.12	0.69794	Actinin-type, actin-binding, conserved site (1);Calponin homology domain (5);	0.151924	0.64402	D	0.000009	D	0.98343	0.9450	H	0.96805	3.885	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	D	0.99170	1.0864	10	0.87932	D	0	-17.9458	19.116	0.93340	0.0:0.0:1.0:0.0	.	228	Q14651	PLSI_HUMAN	E	228;149;228;228	ENSP00000387890:G228E;ENSP00000417481:G149E;ENSP00000336831:G228E;ENSP00000418700:G228E	ENSP00000336831:G228E	G	+	2	0	PLS1	143885641	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.115000	0.94336	2.821000	0.97095	0.650000	0.86243	GGA		0.398	PLS1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354435.1	NM_002670		37	69	0	0	0	1	0	37	69					A	142402951	G	A	142402951	3	1	435	1	0	0	0	0	1	0	0	0	12107	1174	41	3	705	3	PLS1	3	142402951	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	222066	142402951	55619479	2080	23005											
PAQR9	344838	broad.mit.edu	37	chr3	142681178	142681178	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcggcgcctggaggaactggCgcaggccctcttctacgtag	6	7	15	13	4	2	0	0	0	2	0	2	2	2	2	2	5	2	2	2	5	3	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:142681178C>T	ENST00000340634.3	-	1	1000	c.1001G>A	c.(1000-1002)cGc>cAc	p.R334H	RP11-372E1.6_ENST00000595774.1_RNA|RP11-372E1.6_ENST00000598787.1_RNA|RP11-372E1.6_ENST00000607937.1_RNA|RP11-372E1.6_ENST00000493825.1_RNA|RP11-372E1.6_ENST00000593321.1_RNA|RP11-372E1.6_ENST00000598139.1_RNA|RP11-372E1.6_ENST00000497652.1_RNA|RP11-372E1.6_ENST00000478823.1_RNA|RP11-372E1.6_ENST00000608349.1_RNA|RP11-372E1.6_ENST00000608686.1_RNA|RP11-372E1.6_ENST00000595248.1_RNA|RP11-372E1.6_ENST00000594095.1_RNA	NM_198504.2	NP_940906.1	Q6ZVX9	PAQR9_HUMAN	progestin and adipoQ receptor family member IX	334						integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			endometrium(2)|large_intestine(7)|lung(12)|prostate(1)	22						GAGGAACTGGCGCAGGCCCTC	0.592																																						ENST00000340634.3																			0				endometrium(2)|large_intestine(7)|lung(12)|prostate(1)	22						c.(1000-1002)cGc>cAc		progestin and adipoQ receptor family member IX							72	82	79					3																	142681178		2203	4300	6503	SO:0001583	missense	344838					integral to membrane	receptor activity	g.chr3:142681178C>T	AY424287	CCDS3128.1	3q23	2008-05-02			ENSG00000188582	ENSG00000188582			30131	protein-coding gene	gene with protein product		614580					Standard	NM_198504		Approved	FLJ41938	uc003evg.3	Q6ZVX9	OTTHUMG00000159313	ENST00000340634.3:c.1001G>A	3.37:g.142681178C>T	ENSP00000341564:p.Arg334His						p.R334H	NM_198504.2	NP_940906.1	Q6ZVX9	PAQR9_HUMAN			1	1000	-			334					Q147T6	Missense_Mutation	SNP	ENST00000340634.3	37	c.1001G>A	CCDS3128.1	.	.	.	.	.	.	.	.	.	.	C	15.40	2.821286	0.50633	.	.	ENSG00000188582	ENST00000340634	T	0.27720	1.65	5.62	4.74	0.60224	.	0.271361	0.27876	N	0.017495	T	0.19406	0.0466	N	0.08118	0	0.30950	N	0.724878	D	0.54964	0.969	P	0.46320	0.512	T	0.08066	-1.0740	10	0.62326	D	0.03	-23.5741	9.2887	0.37773	0.0:0.5666:0.3562:0.0772	.	334	Q6ZVX9	PAQR9_HUMAN	H	334	ENSP00000341564:R334H	ENSP00000341564:R334H	R	-	2	0	PAQR9	144163868	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	1.322000	0.33689	1.348000	0.45733	0.650000	0.86243	CGC		0.592	PAQR9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354538.1	NM_198504		31	51	0	0	0	1	0	31	51					T	142681178	C	T	142681178	3	4	435	1	0	0	0	0	1	0	0	0	11442	768	27	1	136	1	PAQR9	3	142681178	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	278227	142681178	55341252	2081	23006											
CHST2	9435	broad.mit.edu	37	chr3	142840257	142840257	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctacgagccagtgtggcatgTatggcaaaaactgtatccgg	11	9	12	9	2	0	0	0	0	0	0	1	1	1	0	2	3	3	4	2	3	5	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:142840257T>C	ENST00000309575.3	+	2	1983	c.599T>C	c.(598-600)gTa>gCa	p.V200A		NM_004267.4	NP_004258.2	Q9Y4C5	CHST2_HUMAN	carbohydrate (N-acetylglucosamine-6-O) sulfotransferase 2	200					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|inflammatory response (GO:0006954)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|multicellular organismal development (GO:0007275)|N-acetylglucosamine metabolic process (GO:0006044)|small molecule metabolic process (GO:0044281)|sulfur compound metabolic process (GO:0006790)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|intrinsic component of Golgi membrane (GO:0031228)|trans-Golgi network (GO:0005802)	N-acetylglucosamine 6-O-sulfotransferase activity (GO:0001517)|sulfotransferase activity (GO:0008146)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(2)	22						GTGTGGCATGTATGGCAAAAA	0.582																																						ENST00000309575.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(2)	22						c.(598-600)gTa>gCa		carbohydrate (N-acetylglucosamine-6-O) sulfotransferase 2							67	83	78					3																	142840257		2198	4297	6495	SO:0001583	missense	9435				inflammatory response|multicellular organismal development|N-acetylglucosamine metabolic process|sulfur compound metabolic process	integral to membrane|intrinsic to Golgi membrane|trans-Golgi network	N-acetylglucosamine 6-O-sulfotransferase activity	g.chr3:142840257T>C	BC042160	CCDS3129.1	3q24	2007-03-14			ENSG00000175040	ENSG00000175040		"Sulfotransferases, membrane-bound"	1970	protein-coding gene	gene with protein product		603798				10049591	Standard	NM_004267		Approved	C6ST	uc003evm.3	Q9Y4C5	OTTHUMG00000159351	ENST00000309575.3:c.599T>C	3.37:g.142840257T>C	ENSP00000307911:p.Val200Ala						p.V200A	NM_004267.4	NP_004258.2	Q9Y4C5	CHST2_HUMAN			2	1983	+			200					D3DNG5|Q2M370|Q9GZN5|Q9UED5|Q9Y6F2	Missense_Mutation	SNP	ENST00000309575.3	37	c.599T>C	CCDS3129.1	.	.	.	.	.	.	.	.	.	.	T	22.9	4.351133	0.82132	.	.	ENSG00000175040	ENST00000309575	D	0.96885	-4.16	4.45	4.45	0.53987	Sulfotransferase domain (1);	0.082297	0.48767	U	0.000162	D	0.96599	0.8890	M	0.73319	2.225	0.48341	D	0.999639	P	0.46327	0.876	P	0.51895	0.683	D	0.96348	0.9256	10	0.48119	T	0.1	-0.111	13.8553	0.63522	0.0:0.0:0.0:1.0	.	200	Q9Y4C5	CHST2_HUMAN	A	200	ENSP00000307911:V200A	ENSP00000307911:V200A	V	+	2	0	CHST2	144322947	1.000000	0.71417	1.000000	0.80357	0.918000	0.54935	6.019000	0.70818	1.859000	0.53934	0.334000	0.21626	GTA		0.582	CHST2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354850.1	NM_004267		16	54	0	0	0	1	0	16	54					C	142840257	T	C	142840257	3	2	435	1	0	0	0	0	1	0	0	0	3404	1638	57	4	601	4	CHST2	3	142840257	Missense_Mutation	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	159079	142840257	55182173	2082	23007											
CHST2	9435	broad.mit.edu	37	chr3	142841089	142841089	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtatctgcacgcaatgccacGcaggccgccaatgcctggcg	8	6	12	15	4	1	0	0	0	1	0	1	0	1	0	4	2	3	4	4	2	3	1	rs147682013	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:142841089G>A	ENST00000309575.3	+	2	2815	c.1431G>A	c.(1429-1431)acG>acA	p.T477T		NM_004267.4	NP_004258.2	Q9Y4C5	CHST2_HUMAN	carbohydrate (N-acetylglucosamine-6-O) sulfotransferase 2	477					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|inflammatory response (GO:0006954)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|multicellular organismal development (GO:0007275)|N-acetylglucosamine metabolic process (GO:0006044)|small molecule metabolic process (GO:0044281)|sulfur compound metabolic process (GO:0006790)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|intrinsic component of Golgi membrane (GO:0031228)|trans-Golgi network (GO:0005802)	N-acetylglucosamine 6-O-sulfotransferase activity (GO:0001517)|sulfotransferase activity (GO:0008146)	p.T477T(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(2)	22						GCAATGCCACGCAGGCCGCCA	0.612																																						ENST00000309575.3																			1	Substitution - coding silent(1)	p.T477T(1)	lung(1)	breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(2)	22						c.(1429-1431)acG>acA		carbohydrate (N-acetylglucosamine-6-O) sulfotransferase 2		G		5,4401	9.9+/-24.2	0,5,2198	56	57	57		1431	-3.7	1	3	dbSNP_134	57	0,8600		0,0,4300	no	coding-synonymous	CHST2	NM_004267.4		0,5,6498	AA,AG,GG		0.0,0.1135,0.0384		477/531	142841089	5,13001	2203	4300	6503	SO:0001819	synonymous_variant	9435				inflammatory response|multicellular organismal development|N-acetylglucosamine metabolic process|sulfur compound metabolic process	integral to membrane|intrinsic to Golgi membrane|trans-Golgi network	N-acetylglucosamine 6-O-sulfotransferase activity	g.chr3:142841089G>A	BC042160	CCDS3129.1	3q24	2007-03-14			ENSG00000175040	ENSG00000175040		"Sulfotransferases, membrane-bound"	1970	protein-coding gene	gene with protein product		603798				10049591	Standard	NM_004267		Approved	C6ST	uc003evm.3	Q9Y4C5	OTTHUMG00000159351	ENST00000309575.3:c.1431G>A	3.37:g.142841089G>A							p.T477T	NM_004267.4	NP_004258.2	Q9Y4C5	CHST2_HUMAN			2	2815	+			477					D3DNG5|Q2M370|Q9GZN5|Q9UED5|Q9Y6F2	Silent	SNP	ENST00000309575.3	37	c.1431G>A	CCDS3129.1																																																																																				0.612	CHST2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354850.1	NM_004267		4	29	0	0	0	1	0	4	29					A	142841089	G	A	142841089	2	1	435	1	0	0	0	0	0	0	0	1	3404	1074	38	1		1	CHST2	3	142841089	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	832	142841089	55181341	2083	23008											
PLSCR2	57047	broad.mit.edu	37	chr3	146167020	146167020	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaacaggcaccaatcatcacGgctttcattttaacatcaag	15	10	5	11	1	4	0	4	0	0	0	4	0	4	0	1	2	2	2	1	2	4	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:146167020G>A	ENST00000497985.1	-	8	1276	c.837C>T	c.(835-837)gcC>gcT	p.A279A	PLSCR2_ENST00000336685.2_Silent_p.A206A	NM_001199978.1	NP_001186907.1	Q9NRY7	PLS2_HUMAN	phospholipid scramblase 2	279					phospholipid scrambling (GO:0017121)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|phospholipid scramblase activity (GO:0017128)			endometrium(2)|large_intestine(5)|lung(7)|stomach(1)	15						CAATCATCACGGCTTTCATTT	0.383																																						ENST00000497985.1																			0				endometrium(2)|large_intestine(5)|lung(7)|stomach(1)	15						c.(835-837)gcC>gcT		phospholipid scramblase 2							171	168	169					3																	146167020		2203	4300	6503	SO:0001819	synonymous_variant	57047				phospholipid scrambling	integral to membrane|plasma membrane	calcium ion binding|phospholipid scramblase activity	g.chr3:146167020G>A		CCDS56284.1, CCDS3134.1, CCDS75029.1	3q24	2008-07-18			ENSG00000163746	ENSG00000163746			16494	protein-coding gene	gene with protein product		607610				10930526	Standard	NM_001199978		Approved		uc003evw.2	Q9NRY7	OTTHUMG00000159429	ENST00000497985.1:c.837C>T	3.37:g.146167020G>A						PLSCR2_ENST00000336685.2_Silent_p.A206A	p.A279A	NM_001199978.1	NP_001186907.1	Q9NRY7	PLS2_HUMAN			8	1276	-			206					B4DXC3|J3KR76|Q0VAQ1|Q6NSW9|Q7Z4L7	Silent	SNP	ENST00000497985.1	37	c.837C>T	CCDS56284.1																																																																																				0.383	PLSCR2-002	PUTATIVE	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000355264.1	NM_020359		47	56	0	0	0	1	0	47	56					A	146167020	G	A	146167020	2	1	435	1	0	0	0	0	0	0	0	1	12110	1103	39	2		2	PLSCR2	3	146167020	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	3325931	146167020	51855410	2084	23009											
ZIC4	84107	broad.mit.edu	37	chr3	147114235	147114235	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aggcggcggtgagctgggggCcatggtgtccagagctgcta	6	7	19	9	2	0	2	0	1	0	1	1	2	1	2	2	6	3	3	2	6	1	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:147114235C>T	ENST00000383075.3	-	3	604	c.92G>A	c.(91-93)gGc>gAc	p.G31D	ZIC4_ENST00000473123.1_Missense_Mutation_p.G31D|ZIC4_ENST00000484399.1_Missense_Mutation_p.G31D|ZIC4_ENST00000491672.1_Intron|ZIC4_ENST00000425731.3_Missense_Mutation_p.G69D|ZIC4_ENST00000525172.2_Missense_Mutation_p.G81D	NM_032153.5	NP_115529.2	Q8N9L1	ZIC4_HUMAN	Zic family member 4	31						nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.G31D(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(34)|upper_aerodigestive_tract(4)	57						GAGCTGGGGGCCATGGTGTCC	0.692																																						ENST00000383075.3																			1	Substitution - Missense(1)	p.G31D(1)	lung(1)	breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(34)|upper_aerodigestive_tract(4)	57						c.(91-93)gGc>gAc		Zic family member 4							23	29	27					3																	147114235		2023	4168	6191	SO:0001583	missense	84107					nucleus	DNA binding|zinc ion binding	g.chr3:147114235C>T	AF332509	CCDS43160.1, CCDS54652.1, CCDS54653.1, CCDS58857.1	3q24	2013-01-08	2003-02-21		ENSG00000174963	ENSG00000174963		"Zinc fingers, C2H2-type"	20393	protein-coding gene	gene with protein product		608948	"zinc finger protein of the cerebellum 4"				Standard	NM_001168378		Approved		uc011bno.2	Q8N9L1	OTTHUMG00000037281	ENST00000383075.3:c.92G>A	3.37:g.147114235C>T	ENSP00000372553:p.Gly31Asp					ZIC4_ENST00000491672.1_Intron|ZIC4_ENST00000425731.3_Missense_Mutation_p.G69D|ZIC4_ENST00000484399.1_Missense_Mutation_p.G31D|ZIC4_ENST00000525172.2_Missense_Mutation_p.G81D|ZIC4_ENST00000473123.1_Missense_Mutation_p.G31D	p.G31D	NM_032153.5	NP_115529.2	Q8N9L1	ZIC4_HUMAN			3	604	-			31					A0AVA2|B2RMQ8|B4DF89|B7Z2L2|C9J7D5|J3KQG1|Q4G157|Q9BZ94	Missense_Mutation	SNP	ENST00000383075.3	37	c.92G>A	CCDS43160.1	.	.	.	.	.	.	.	.	.	.	C	14.86	2.662110	0.47572	.	.	ENSG00000174963	ENST00000383075;ENST00000425731;ENST00000525172;ENST00000484399;ENST00000473123;ENST00000462748;ENST00000484586;ENST00000463250	T;T;T;T;T;T	0.12465	2.84;2.74;2.73;2.84;2.84;2.68	5.16	3.36	0.38483	.	0.287586	0.24597	N	0.037170	T	0.09774	0.0240	N	0.20986	0.625	0.80722	D	1	B;P	0.44195	0.006;0.828	B;B	0.40901	0.013;0.343	T	0.11421	-1.0588	10	0.56958	D	0.05	.	9.4104	0.38489	0.0:0.7734:0.0:0.2266	.	81;31	B7Z2L2;Q8N9L1	.;ZIC4_HUMAN	D	31;69;81;31;31;31;31;31	ENSP00000372553:G31D;ENSP00000397695:G69D;ENSP00000435509:G81D;ENSP00000417855:G31D;ENSP00000420775:G31D;ENSP00000420627:G31D	ENSP00000372553:G31D	G	-	2	0	ZIC4	148596925	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	3.779000	0.55379	1.170000	0.42753	0.561000	0.74099	GGC		0.692	ZIC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355504.1			14	36	0	0	0	1	0	14	36					T	147114235	C	T	147114235	3	4	435	1	0	0	0	0	1	0	0	0	17678	739	26	3	924	3	ZIC4	3	147114235	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	947215	147114235	50908195	2085	23010											
ZIC1	7545	broad.mit.edu	37	chr3	147131197	147131197	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccggccgccagctctggctaCgaatcctccacgcctcccac	6	6	8	21	4	1	0	0	0	1	0	4	1	4	0	7	2	2	2	7	2	2	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:147131197C>T	ENST00000282928.4	+	3	1932	c.1203C>T	c.(1201-1203)taC>taT	p.Y401Y		NM_003412.3	NP_003403.2	Q15915	ZIC1_HUMAN	Zic family member 1	401	Ser-rich.				adult walking behavior (GO:0007628)|brain development (GO:0007420)|cell differentiation (GO:0030154)|inner ear morphogenesis (GO:0042472)|pattern specification process (GO:0007389)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of smoothened signaling pathway (GO:0008589)|spinal cord development (GO:0021510)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(4)|cervix(1)|endometrium(2)|large_intestine(8)|lung(38)|ovary(1)|prostate(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	63						GCTCTGGCTACGAATCCTCCA	0.617																																						ENST00000282928.4																			0				central_nervous_system(4)|cervix(1)|endometrium(2)|large_intestine(8)|lung(38)|ovary(1)|prostate(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	63						c.(1201-1203)taC>taT		Zic family member 1							105	94	98					3																	147131197		2203	4300	6503	SO:0001819	synonymous_variant	7545				behavior|brain development|cell differentiation|inner ear morphogenesis|pattern specification process|positive regulation of protein import into nucleus|positive regulation of transcription, DNA-dependent|regulation of smoothened signaling pathway	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr3:147131197C>T	D76435	CCDS3136.1	3q24	2013-01-08	2011-05-19		ENSG00000152977	ENSG00000152977		"Zinc fingers, C2H2-type"	12872	protein-coding gene	gene with protein product		600470	"Zic family member 1 (odd-paired Drosophila homolog)", "Zic family member 1 (odd-paired homolog, Drosophila)"			8542595	Standard	NM_003412		Approved	ZIC, ZNF201	uc003ewe.3	Q15915	OTTHUMG00000159456	ENST00000282928.4:c.1203C>T	3.37:g.147131197C>T							p.Y401Y	NM_003412.3	NP_003403.2	Q15915	ZIC1_HUMAN			3	1932	+			401			Ser-rich.		Q2M3N1	Silent	SNP	ENST00000282928.4	37	c.1203C>T	CCDS3136.1	.	.	.	.	.	.	.	.	.	.	C	6.458	0.452685	0.12283	.	.	ENSG00000152977	ENST00000488404	.	.	.	3.37	-0.806	0.10875	.	.	.	.	.	T	0.53286	0.1787	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.40156	-0.9578	4	.	.	.	.	7.5551	0.27819	0.0:0.5049:0.0:0.4951	.	.	.	.	M	90	.	.	T	+	2	0	ZIC1	148613887	1.000000	0.71417	0.923000	0.36655	0.657000	0.38888	1.018000	0.30002	-0.758000	0.04690	-0.379000	0.06801	ACG		0.617	ZIC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355497.1	NM_003412		26	29	0	0	0	1	0	26	29					T	147131197	C	T	147131197	2	4	435	1	0	0	0	0	0	0	0	1	17675	547	19	1		1	ZIC1	3	147131197	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	16962	147131197	50891233	2086	23011											
AGTR1	185	broad.mit.edu	37	chr3	148459669	148459669	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ttgcagatattgtggacacgGccatgcctatcaccatttgt	9	13	9	10	1	1	1	1	0	0	1	1	2	1	2	3	2	2	1	3	2	2	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:148459669G>A	ENST00000497524.1	+	2	1238	c.847G>A	c.(847-849)Gcc>Acc	p.A283T	AGTR1_ENST00000461609.1_Missense_Mutation_p.A283T|AGTR1_ENST00000349243.3_Missense_Mutation_p.A283T|AGTR1_ENST00000402260.1_Missense_Mutation_p.A283T|AGTR1_ENST00000418473.2_Missense_Mutation_p.A283T|AGTR1_ENST00000542281.1_Missense_Mutation_p.A283T|AGTR1_ENST00000475347.1_Missense_Mutation_p.A283T|AGTR1_ENST00000474935.1_Missense_Mutation_p.A283T|AGTR1_ENST00000404754.2_Missense_Mutation_p.A283T	NM_009585.3	NP_033611.1	P30556	AGTR1_HUMAN	angiotensin II receptor, type 1	283					angiotensin-activated signaling pathway (GO:0038166)|calcium-mediated signaling (GO:0019722)|cell chemotaxis (GO:0060326)|G-protein coupled receptor signaling pathway (GO:0007186)|kidney development (GO:0001822)|low-density lipoprotein particle remodeling (GO:0034374)|phospholipase C-activating angiotensin-activated signaling pathway (GO:0086097)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of cholesterol esterification (GO:0010873)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of inflammatory response (GO:0050729)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of NAD(P)H oxidase activity (GO:0033864)|positive regulation of phospholipase A2 activity (GO:0032430)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|regulation of blood vessel size by renin-angiotensin (GO:0002034)|regulation of cell growth (GO:0001558)|regulation of cell proliferation (GO:0042127)|regulation of inflammatory response (GO:0050727)|regulation of renal sodium excretion (GO:0035813)|regulation of systemic arterial blood pressure by renin-angiotensin (GO:0003081)|regulation of vasoconstriction (GO:0019229)|regulation of vasodilation (GO:0042312)|renin-angiotensin regulation of aldosterone production (GO:0002018)|Rho protein signal transduction (GO:0007266)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	angiotensin type I receptor activity (GO:0001596)|angiotensin type II receptor activity (GO:0004945)|bradykinin receptor binding (GO:0031711)|protein heterodimerization activity (GO:0046982)	p.A283T(1)		breast(4)|endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30			LUSC - Lung squamous cell carcinoma(72;0.127)|Lung(72;0.152)		Azilsartan medoxomil(DB08822)|Candesartan(DB00796)|Eprosartan(DB00876)|Forasartan(DB01342)|Irbesartan(DB01029)|Losartan(DB00678)|Olmesartan(DB00275)|Saprisartan(DB01347)|Tasosartan(DB01349)|Telmisartan(DB00966)|Valsartan(DB00177)	TGTGGACACGGCCATGCCTAT	0.363																																						ENST00000542281.1																			1	Substitution - Missense(1)	p.A283T(1)	lung(1)	breast(4)|endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						c.(847-849)Gcc>Acc		angiotensin II receptor, type 1	Candesartan(DB00796)|Eprosartan(DB00876)|Forasartan(DB01342)|Irbesartan(DB01029)|Losartan(DB00678)|Olmesartan(DB00275)|Saprisartan(DB01347)|Spironolactone(DB00421)|Tasosartan(DB01349)|Telmisartan(DB00966)|Valsartan(DB00177)						103	96	98					3																	148459669		2203	4300	6503	SO:0001583	missense	185				calcium-mediated signaling|cell chemotaxis|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|kidney development|low-density lipoprotein particle remodeling|positive regulation of cellular protein metabolic process|positive regulation of cholesterol esterification|positive regulation of inflammatory response|positive regulation of NAD(P)H oxidase activity|positive regulation of phospholipase A2 activity|positive regulation of reactive oxygen species metabolic process|regulation of cell growth|regulation of cell proliferation|regulation of renal sodium excretion|regulation of vasoconstriction|renin-angiotensin regulation of aldosterone production|Rho protein signal transduction		acetyltransferase activator activity|angiotensin type I receptor activity|angiotensin type II receptor activity|bradykinin receptor binding|protein heterodimerization activity	g.chr3:148459669G>A	M87290	CCDS3137.1	3q24	2012-08-08	2002-02-20		ENSG00000144891	ENSG00000144891		"GPCR / Class A : Angiotensin receptors"	336	protein-coding gene	gene with protein product		106165	"angiotensin receptor 1B"	AGTR1B		1550596	Standard	NM_009585		Approved	AT1, AT2R1, AGTR1A, AT2R1A, HAT1R, AG2S, AT2R1B, AT1B	uc003ewh.4	P30556	OTTHUMG00000159503	ENST00000497524.1:c.847G>A	3.37:g.148459669G>A	ENSP00000419422:p.Ala283Thr					AGTR1_ENST00000474935.1_Missense_Mutation_p.A283T|AGTR1_ENST00000418473.2_Missense_Mutation_p.A283T|AGTR1_ENST00000402260.1_Missense_Mutation_p.A283T|AGTR1_ENST00000497524.1_Missense_Mutation_p.A283T|AGTR1_ENST00000475347.1_Missense_Mutation_p.A283T|AGTR1_ENST00000461609.1_Missense_Mutation_p.A283T|AGTR1_ENST00000404754.2_Missense_Mutation_p.A283T|AGTR1_ENST00000349243.3_Missense_Mutation_p.A283T	p.A283T	NM_031850.3	NP_114038.4	P30556	AGTR1_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.127)|Lung(72;0.152)		4	1293	+			283					Q13725|Q8TBK4	Missense_Mutation	SNP	ENST00000497524.1	37	c.847G>A	CCDS3137.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.275945	0.80580	.	.	ENSG00000144891	ENST00000497524;ENST00000349243;ENST00000542281;ENST00000418473;ENST00000404754;ENST00000475347;ENST00000474935;ENST00000461609;ENST00000402260	T;T;T;T;T;T;T;T;T	0.52754	0.65;0.65;0.65;0.65;0.65;0.65;0.65;0.65;0.65	5.76	5.76	0.90799	GPCR, rhodopsin-like superfamily (1);	0.118100	0.56097	D	0.000029	T	0.66268	0.2772	M	0.72894	2.215	0.80722	D	1	P	0.43633	0.813	P	0.54664	0.758	T	0.66858	-0.5817	10	0.72032	D	0.01	-15.5318	19.9759	0.97304	0.0:0.0:1.0:0.0	.	283	P30556	AGTR1_HUMAN	T	283	ENSP00000419422:A283T;ENSP00000273430:A283T;ENSP00000443186:A283T;ENSP00000398832:A283T;ENSP00000385612:A283T;ENSP00000419783:A283T;ENSP00000418084:A283T;ENSP00000418851:A283T;ENSP00000385641:A283T	ENSP00000273430:A283T	A	+	1	0	AGTR1	149942359	1.000000	0.71417	0.963000	0.40424	0.486000	0.33341	9.869000	0.99810	2.713000	0.92767	0.655000	0.94253	GCC		0.363	AGTR1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355807.1			13	92	0	0	0	1	0	13	92					A	148459669	G	A	148459669	3	1	435	1	0	0	0	0	1	0	0	0	401	1203	42	3	849	3	AGTR1	3	148459669	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	1328472	148459669	49562761	2087	23012											
CPA3	1359	broad.mit.edu	37	chr3	148601523	148601523	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaatgaaatcaaggtttacaTcaccttccattcctactccc	12	12	4	13	0	2	1	2	1	0	0	5	2	5	1	4	1	2	1	4	1	5	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:148601523T>C	ENST00000296046.3	+	9	954	c.902T>C	c.(901-903)aTc>aCc	p.I301T	RP11-680B3.2_ENST00000488190.1_RNA	NM_001870.2	NP_001861.2	P15088	CBPA3_HUMAN	carboxypeptidase A3 (mast cell)	301				I -> T (in Ref. 5; AAB22578). {ECO:0000305}.	angiotensin maturation (GO:0002003)|cellular protein metabolic process (GO:0044267)|proteolysis (GO:0006508)	extracellular region (GO:0005576)|secretory granule (GO:0030141)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|endometrium(1)|large_intestine(3)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	35			LUSC - Lung squamous cell carcinoma(72;0.0934)|Lung(72;0.115)			AAGGTTTACATCACCTTCCAT	0.433																																						ENST00000296046.3																			0				NS(1)|breast(3)|endometrium(1)|large_intestine(3)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	35						c.(901-903)aTc>aCc		carboxypeptidase A3 (mast cell)							111	96	101					3																	148601523		2203	4300	6503	SO:0001583	missense	1359				proteolysis	stored secretory granule|transport vesicle	metallocarboxypeptidase activity|zinc ion binding	g.chr3:148601523T>C		CCDS3138.1	3q24	2012-02-10			ENSG00000163751	ENSG00000163751	3.4.17.1		2298	protein-coding gene	gene with protein product	"mast cell carboxypeptidase A", "tissue carboxypeptidase A"	114851					Standard	NM_001870		Approved		uc003ewm.3	P15088	OTTHUMG00000159526	ENST00000296046.3:c.902T>C	3.37:g.148601523T>C	ENSP00000296046:p.Ile301Thr					RP11-680B3.2_ENST00000488190.1_RNA	p.I301T	NM_001870.2	NP_001861.2	P15088	CBPA3_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0934)|Lung(72;0.115)		9	954	+			301	I -> T (in Ref. 5; AAB22578).				Q96E94	Missense_Mutation	SNP	ENST00000296046.3	37	c.902T>C	CCDS3138.1	.	.	.	.	.	.	.	.	.	.	T	18.26	3.583788	0.65992	.	.	ENSG00000163751	ENST00000296046	T	0.13089	2.62	4.77	3.58	0.41010	Peptidase M14, carboxypeptidase A (3);	0.262657	0.37669	N	0.001990	T	0.36276	0.0961	M	0.93106	3.38	0.42916	D	0.99427	P	0.45634	0.863	P	0.52514	0.701	T	0.40459	-0.9562	10	0.72032	D	0.01	.	10.6087	0.45408	0.0:0.0:0.162:0.8379	.	301	P15088	CBPA3_HUMAN	T	301	ENSP00000296046:I301T	ENSP00000296046:I301T	I	+	2	0	CPA3	150084213	0.797000	0.28877	0.945000	0.38365	0.902000	0.53008	4.991000	0.63883	0.830000	0.34757	0.377000	0.23210	ATC		0.433	CPA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355974.1	NM_001870		21	36	0	0	0	1	0	21	36					C	148601523	T	C	148601523	3	2	435	1	0	0	0	0	1	0	0	0	3791	1435	50	4	936	4	CPA3	3	148601523	Missense_Mutation	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	141854	148601523	49420907	2088	23013											
HLTF	6596	broad.mit.edu	37	chr3	148777552	148777552	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	taggaacagatgaagttaatGcacatgcaaatgccacatct	16	9	8	8	0	1	2	0	1	1	1	1	3	1	3	1	1	4	3	1	1	5	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:148777552G>C	ENST00000310053.5	-	13	1521	c.1328C>G	c.(1327-1329)gCa>gGa	p.A443G	HLTF_ENST00000392912.2_Missense_Mutation_p.A443G|HLTF_ENST00000494055.1_Missense_Mutation_p.A443G|HLTF_ENST00000465259.1_Missense_Mutation_p.A442G	NM_003071.3|NM_139048.2	NP_003062.2|NP_620636.1	Q14527	HLTF_HUMAN	helicase-like transcription factor	443	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				chromatin modification (GO:0016568)|protein ubiquitination (GO:0016567)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	47			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)			TGAAGTTAATGCACATGCAAA	0.303																																						ENST00000310053.5																			0				breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	47						c.(1327-1329)gCa>gGa		helicase-like transcription factor							95	102	99					3																	148777552		2203	4290	6493	SO:0001583	missense	6596				chromatin modification|transcription, DNA-dependent	nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding	g.chr3:148777552G>C	L34673	CCDS33875.1	3q25.1-q26.1	2006-11-09	2006-11-09	2006-11-09	ENSG00000071794	ENSG00000071794		"RING-type (C3HC4) zinc fingers"	11099	protein-coding gene	gene with protein product		603257	"SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 3"	SNF2L3, SMARCA3		7558014	Standard	NM_139048		Approved	HIP116A, HLTF1, RNF80	uc003ewr.1	Q14527	OTTHUMG00000159534	ENST00000310053.5:c.1328C>G	3.37:g.148777552G>C	ENSP00000308944:p.Ala443Gly					HLTF_ENST00000494055.1_Missense_Mutation_p.A443G|HLTF_ENST00000392912.2_Missense_Mutation_p.A443G|HLTF_ENST00000465259.1_Missense_Mutation_p.A442G	p.A443G	NM_003071.3|NM_139048.2	NP_003062.2|NP_620636.1	Q14527	HLTF_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)		13	1521	-			443			Helicase ATP-binding.		D3DNH3|Q14536|Q16051|Q7KYJ6|Q86YA5|Q92652|Q96KM9	Missense_Mutation	SNP	ENST00000310053.5	37	c.1328C>G	CCDS33875.1	.	.	.	.	.	.	.	.	.	.	G	9.525	1.109361	0.20714	.	.	ENSG00000071794	ENST00000465259;ENST00000310053;ENST00000392912;ENST00000494055;ENST00000416117	D;D;D;D	0.90197	-2.63;-2.61;-2.61;-2.61	5.29	5.29	0.74685	DEAD-like helicase (2);	.	.	.	.	D	0.86802	0.6020	L	0.42245	1.32	0.40962	D	0.984631	B;B;B	0.20887	0.039;0.049;0.018	B;B;B	0.27715	0.045;0.082;0.039	T	0.82778	-0.0289	9	0.33940	T	0.23	-10.3943	11.5146	0.50513	0.0:0.0:0.8208:0.1792	.	443;443;443	Q59GQ7;A8K5B6;Q14527	.;.;HLTF_HUMAN	G	442;443;443;443;440	ENSP00000420745:A442G;ENSP00000308944:A443G;ENSP00000376644:A443G;ENSP00000420429:A443G	ENSP00000308944:A443G	A	-	2	0	HLTF	150260242	1.000000	0.71417	0.997000	0.53966	0.116000	0.19942	3.028000	0.49705	2.454000	0.82982	0.655000	0.94253	GCA		0.303	HLTF-003	KNOWN	alternative_3_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356064.1			20	39	0	0	0	1	0	20	39					C	148777552	G	C	148777552	3	2	435	1	0	0	0	0	1	0	0	0	7215	1319	46	5	1753	5	HLTF	3	148777552	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	176029	148777552	49244878	2089	23014											
CP	1356	broad.mit.edu	37	chr3	148903102	148903102	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccattccacctccactgctgCgatatagtatgtcctctctc	7	13	5	16	1	1	0	0	0	1	0	6	1	4	0	5	0	2	2	5	0	3	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:148903102C>T	ENST00000264613.6	-	12	2471	c.2209G>A	c.(2209-2211)Gca>Aca	p.A737T	CP_ENST00000462336.1_5'UTR	NM_000096.3	NP_000087	P00450	CERU_HUMAN	ceruloplasmin (ferroxidase)	737	F5/8 type A 3.|Plastocyanin-like 5.				cellular iron ion homeostasis (GO:0006879)|copper ion transport (GO:0006825)|transmembrane transport (GO:0055085)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)	chaperone binding (GO:0051087)|copper ion binding (GO:0005507)|ferroxidase activity (GO:0004322)			breast(6)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		Prostate(884;0.00217)|Hepatocellular(537;0.00826)|Myeloproliferative disorder(1037;0.0122)|all_neural(597;0.0189)|Melanoma(1037;0.152)	LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)		Drotrecogin alfa(DB00055)	TCCACTGCTGCGATATAGTAT	0.478																																						ENST00000264613.6																			0				breast(6)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						c.(2209-2211)Gca>Aca		ceruloplasmin (ferroxidase)	Drotrecogin alfa(DB00055)						191	187	188					3																	148903102		2203	4300	6503	SO:0001583	missense	1356				cellular iron ion homeostasis|copper ion transport|transmembrane transport	extracellular space	chaperone binding|ferroxidase activity	g.chr3:148903102C>T	M13536	CCDS3141.1	3q23-q25	2010-07-01			ENSG00000047457	ENSG00000047457	1.16.3.1		2295	protein-coding gene	gene with protein product		117700					Standard	NM_000096		Approved		uc003ewy.4	P00450	OTTHUMG00000159563	ENST00000264613.6:c.2209G>A	3.37:g.148903102C>T	ENSP00000264613:p.Ala737Thr					CP_ENST00000462336.1_5'UTR	p.A737T	NM_000096.3	NP_000087.1	P00450	CERU_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)		12	2471	-		Prostate(884;0.00217)|Hepatocellular(537;0.00826)|Myeloproliferative disorder(1037;0.0122)|all_neural(597;0.0189)|Melanoma(1037;0.152)	737			F5/8 type A 3.|Plastocyanin-like 5.		Q14063|Q2PP18|Q9UKS4	Missense_Mutation	SNP	ENST00000264613.6	37	c.2209G>A	CCDS3141.1	.	.	.	.	.	.	.	.	.	.	C	17.42	3.385909	0.61956	.	.	ENSG00000047457	ENST00000264613;ENST00000494544	D;D	0.99042	-5.36;-5.36	5.55	5.55	0.83447	Cupredoxin (2);	0.169125	0.52532	D	0.000062	D	0.99296	0.9754	M	0.87617	2.895	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;0.999	P;P;P	0.62298	0.9;0.9;0.857	D	0.99327	1.0908	10	0.54805	T	0.06	-21.1098	19.5213	0.95185	0.0:1.0:0.0:0.0	.	737;737;737	A8K5A4;P00450;Q1L857	.;CERU_HUMAN;.	T	737;520	ENSP00000264613:A737T;ENSP00000420545:A520T	ENSP00000264613:A737T	A	-	1	0	CP	150385792	1.000000	0.71417	0.488000	0.27440	0.135000	0.20990	4.978000	0.63799	2.610000	0.88304	0.555000	0.69702	GCA		0.478	CP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317498.1	NM_000096		7	133	0	0	0	1	0	7	133					T	148903102	C	T	148903102	3	4	435	1	0	0	0	0	1	0	0	0	3787	768	27	1	1020	1	CP	3	148903102	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	125550	148903102	49119328	2090	23015											
COMMD2	51122	broad.mit.edu	37	chr3	149470004	149470004	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttcccttcttactggcggcGccttcgtagatttttgggtt	3	18	10	10	3	1	1	0	0	1	1	3	1	2	1	2	3	1	2	2	3	2	8			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:149470004G>A	ENST00000473414.1	-	2	192	c.138C>T	c.(136-138)ggC>ggT	p.G46G		NM_016094.3	NP_057178.2	Q86X83	COMD2_HUMAN	COMM domain containing 2	46										NS(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)|urinary_tract(1)	9			LUSC - Lung squamous cell carcinoma(72;0.0378)|Lung(72;0.048)			TACTGGCGGCGCCTTCGTAGA	0.567																																						ENST00000473414.1																			0				NS(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)|urinary_tract(1)	9						c.(136-138)ggC>ggT		COMM domain containing 2							75	85	81					3																	149470004		2203	4300	6503	SO:0001819	synonymous_variant	51122						protein binding	g.chr3:149470004G>A	AY542158	CCDS3145.1	3q25.1	2004-02-20			ENSG00000114744	ENSG00000114744			24993	protein-coding gene	gene with protein product						15799966	Standard	NM_016094		Approved	HSPC042	uc003exj.2	Q86X83	OTTHUMG00000159616	ENST00000473414.1:c.138C>T	3.37:g.149470004G>A							p.G46G	NM_016094.3	NP_057178.2	Q86X83	COMD2_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0378)|Lung(72;0.048)		2	192	-			46					Q561V4|Q9H3L5|Q9Y5V1	Silent	SNP	ENST00000473414.1	37	c.138C>T	CCDS3145.1																																																																																				0.567	COMMD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356515.1	NM_016094		42	64	0	0	0	1	0	42	64					A	149470004	G	A	149470004	2	1	435	1	0	0	0	0	0	0	0	1	3716	1074	38	1		1	COMMD2	3	149470004	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	566902	149470004	48552426	2091	23016											
PFN2	5217	broad.mit.edu	37	chr3	149686268	149686268	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatcactgagcatttcttcgCgccaagagtcaaaccgttgg	10	10	10	11	3	3	2	2	1	1	1	4	3	3	2	2	1	2	2	2	1	2	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:149686268C>T	ENST00000239940.7	-	2	454	c.202G>A	c.(202-204)Gcg>Acg	p.A68T	PFN2_ENST00000498307.1_Missense_Mutation_p.A19T|PFN2_ENST00000423691.2_Missense_Mutation_p.A68T|PFN2_ENST00000461868.1_Missense_Mutation_p.A68T|PFN2_ENST00000461930.1_3'UTR|PFN2_ENST00000481275.1_Missense_Mutation_p.A19T|PFN2_ENST00000452853.2_Missense_Mutation_p.A68T|PFN2_ENST00000489155.1_Missense_Mutation_p.A19T|PFN2_ENST00000494827.1_Missense_Mutation_p.A19T|PFN2_ENST00000497148.1_Missense_Mutation_p.A19T|AC117395.1_ENST00000593416.1_5'Flank|PFN2_ENST00000475518.1_Missense_Mutation_p.A19T|PFN2_ENST00000481767.1_Missense_Mutation_p.A19T|PFN2_ENST00000490975.1_Missense_Mutation_p.A68T			P35080	PROF2_HUMAN	profilin 2	68					actin cytoskeleton organization (GO:0030036)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of ruffle assembly (GO:1900028)|positive regulation of actin filament bundle assembly (GO:0032233)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of ATPase activity (GO:0032781)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|regulation of synaptic vesicle exocytosis (GO:2000300)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|terminal bouton (GO:0043195)	actin monomer binding (GO:0003785)|adenyl-nucleotide exchange factor activity (GO:0000774)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			large_intestine(1)|lung(4)|ovary(1)|prostate(1)	7			LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)			CATTTCTTCGCGCCAAGAGTC	0.438																																						ENST00000239940.7																			0				large_intestine(1)|lung(4)|ovary(1)|prostate(1)	7						c.(202-204)Gcg>Acg		profilin 2							201	211	208					3																	149686268		2203	4300	6503	SO:0001583	missense	5217				actin cytoskeleton organization|regulation of actin polymerization or depolymerization	actin cytoskeleton|cytoplasm	actin binding|phosphatidylinositol-4,5-bisphosphate binding	g.chr3:149686268C>T	L10678	CCDS3148.1, CCDS46934.1	3q25.1	2006-10-16			ENSG00000070087	ENSG00000070087			8882	protein-coding gene	gene with protein product		176590				8975700, 8365484	Standard	NM_002628		Approved		uc003ext.1	P35080	OTTHUMG00000159683	ENST00000239940.7:c.202G>A	3.37:g.149686268C>T	ENSP00000239940:p.Ala68Thr					PFN2_ENST00000489155.1_Missense_Mutation_p.A19T|PFN2_ENST00000494827.1_Missense_Mutation_p.A19T|PFN2_ENST00000497148.1_Missense_Mutation_p.A19T|PFN2_ENST00000481275.1_Missense_Mutation_p.A19T|PFN2_ENST00000461930.1_3'UTR|PFN2_ENST00000423691.2_Missense_Mutation_p.A68T|PFN2_ENST00000490975.1_Missense_Mutation_p.A68T|PFN2_ENST00000475518.1_Missense_Mutation_p.A19T|PFN2_ENST00000461868.1_Missense_Mutation_p.A68T|PFN2_ENST00000481767.1_Missense_Mutation_p.A19T|PFN2_ENST00000498307.1_Missense_Mutation_p.A19T|PFN2_ENST00000452853.2_Missense_Mutation_p.A68T	p.A68T			P35080	PROF2_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)		2	454	-			68					B2R4C8|D3DNI4|Q4VBQ4|Q8WVF9|Q9HBK2	Missense_Mutation	SNP	ENST00000239940.7	37	c.202G>A	CCDS3148.1	.	.	.	.	.	.	.	.	.	.	.	16.94	3.261427	0.59431	.	.	ENSG00000070087	ENST00000452853;ENST00000239940;ENST00000423691;ENST00000481767;ENST00000494827;ENST00000490975;ENST00000497148;ENST00000475518;ENST00000481275;ENST00000498307;ENST00000489155;ENST00000461868	D;D;D;D;D;D;D;D;D;D;D;D	0.85773	-2.03;-2.03;-2.03;-2.03;-2.03;-2.03;-2.03;-2.03;-2.03;-2.03;-2.03;-2.03	5.28	5.28	0.74379	.	0.501209	0.23116	N	0.051748	T	0.73497	0.3594	N	0.08118	0	0.33740	D	0.61926	P;P;B;B	0.50156	0.733;0.932;0.341;0.319	B;B;B;B	0.38755	0.034;0.281;0.023;0.056	D	0.83385	0.0014	10	0.87932	D	0	.	18.9045	0.92455	0.0:1.0:0.0:0.0	.	68;262;68;19	G5E9Q6;D3DNI2;P35080;C9J0J7	.;.;PROF2_HUMAN;.	T	68;68;68;19;19;68;19;19;19;19;19;68	ENSP00000410464:A68T;ENSP00000239940:A68T;ENSP00000408283:A68T;ENSP00000420417:A19T;ENSP00000418523:A19T;ENSP00000417351:A68T;ENSP00000417817:A19T;ENSP00000418142:A19T;ENSP00000418216:A19T;ENSP00000420202:A19T;ENSP00000420504:A19T;ENSP00000420244:A68T	ENSP00000239940:A68T	A	-	1	0	PFN2	151168958	0.998000	0.40836	0.992000	0.48379	0.807000	0.45602	2.803000	0.47924	2.444000	0.82710	0.655000	0.94253	GCG		0.438	PFN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356873.2	NM_002628		67	98	0	0	0	1	0	67	98					T	149686268	C	T	149686268	3	4	435	1	0	0	0	0	1	0	0	0	11768	768	27	1	330	1	PFN2	3	149686268	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	216264	149686268	48336162	2092	23017											
EIF2A	83939	broad.mit.edu	37	chr3	150289880	150289880	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atttgactttggaactggtcCtcgtaatgcagcctactata	10	14	8	9	1	0	1	0	1	0	0	2	2	1	2	2	2	4	2	2	2	5	6			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:150289880C>T	ENST00000460851.1	+	10	1056	c.947C>T	c.(946-948)cCt>cTt	p.P316L	EIF2A_ENST00000273435.5_Missense_Mutation_p.P311L|EIF2A_ENST00000406576.3_Missense_Mutation_p.P255L|EIF2A_ENST00000383043.3_Missense_Mutation_p.P102L|SERP1_ENST00000479209.1_Intron|SERP1_ENST00000490945.1_Intron|EIF2A_ENST00000487799.1_Missense_Mutation_p.P291L			Q9BY44	EIF2A_HUMAN	eukaryotic translation initiation factor 2A, 65kDa	316					positive regulation of signal transduction (GO:0009967)|protein phosphorylation (GO:0006468)|regulation of translation (GO:0006417)|ribosome assembly (GO:0042255)|SREBP signaling pathway (GO:0032933)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|eukaryotic translation initiation factor 2 complex (GO:0005850)|extracellular space (GO:0005615)	ribosome binding (GO:0043022)|translation initiation factor activity (GO:0003743)|tRNA binding (GO:0000049)			cervix(1)|endometrium(2)|kidney(1)|lung(3)	7		Melanoma(1037;0.0575)	LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)			GGAACTGGTCCTCGTAATGCA	0.398																																						ENST00000460851.1																			0				cervix(1)|endometrium(2)|kidney(1)|lung(3)	7						c.(946-948)cCt>cTt		eukaryotic translation initiation factor 2A, 65kDa							106	99	101					3																	150289880		1843	4108	5951	SO:0001583	missense	83939				regulation of translation|ribosome assembly	eukaryotic translation initiation factor 2 complex	ribosome binding|translation initiation factor activity|tRNA binding	g.chr3:150289880C>T	AF212241	CCDS46935.1	3q25.1	2011-01-19	2006-01-24		ENSG00000144895	ENSG00000144895			3254	protein-coding gene	gene with protein product		609234				12133843, 1620067	Standard	NM_032025		Approved	EIF-2A	uc003eya.3	Q9BY44	OTTHUMG00000159775	ENST00000460851.1:c.947C>T	3.37:g.150289880C>T	ENSP00000417229:p.Pro316Leu					SERP1_ENST00000479209.1_Intron|EIF2A_ENST00000406576.3_Missense_Mutation_p.P255L|EIF2A_ENST00000273435.5_Missense_Mutation_p.P311L|EIF2A_ENST00000383043.3_Missense_Mutation_p.P102L|SERP1_ENST00000490945.1_Intron|EIF2A_ENST00000487799.1_Missense_Mutation_p.P291L	p.P316L			Q9BY44	EIF2A_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)		10	1056	+		Melanoma(1037;0.0575)	316					A8MPS6|B4DF96|B4DQ14|D3DNI9|Q5QTR2|Q7Z4E9|Q8NFM1|Q96EW9|Q96K81	Missense_Mutation	SNP	ENST00000460851.1	37	c.947C>T	CCDS46935.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	30|30	5.056094|5.056094	0.93793|0.93793	.|.	.|.	ENSG00000144895|ENSG00000144895	ENST00000465535|ENST00000487799;ENST00000460851;ENST00000406576;ENST00000273435;ENST00000383043	.|T;T;T;T;T	.|0.57107	.|1.3;1.48;0.42;3.39;0.72	6.03|6.03	6.03|6.03	0.97812|0.97812	.|WD40/YVTN repeat-like-containing domain (1);Translation initiation factor 2A, beta propellor-like domain (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.79690|0.79690	0.4489|0.4489	M|M	0.90595|0.90595	3.13|3.13	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.76494	.|0.999;0.996;0.993	.|D;D;D	.|0.79784	.|0.993;0.969;0.969	T|T	0.82240|0.82240	-0.0555|-0.0555	5|10	.|0.87932	.|D	.|0	-19.143|-19.143	20.6398|20.6398	0.99548|0.99548	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|255;291;316	.|B4DF96;B4DQ14;Q9BY44	.|.;.;EIF2A_HUMAN	F|L	90|291;316;255;311;102	.|ENSP00000420537:P291L;ENSP00000417229:P316L;ENSP00000385292:P255L;ENSP00000273435:P311L;ENSP00000372513:P102L	.|ENSP00000273435:P311L	L|P	+|+	1|2	0|0	EIF2A|EIF2A	151772570|151772570	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	7.438000|7.438000	0.80431|0.80431	2.881000|2.881000	0.98747|0.98747	0.650000|0.650000	0.86243|0.86243	CTC|CCT		0.398	EIF2A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000357259.2	NM_032025		14	18	0	0	0	1	0	14	18					T	150289880	C	T	150289880	3	4	435	1	0	0	0	0	1	0	0	0	4995	681	24	3	985	3	EIF2A	3	150289880	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	603612	150289880	47732550	2093	23018											
CLRN1	7401	broad.mit.edu	37	chr3	150644648	150644648	+	3'UTR	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cagttccaggctcagctgtgGcctttagtcagctgcagatc	7	11	11	12	0	2	1	2	0	0	1	4	1	3	1	2	2	3	5	2	2	1	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:150644648G>A	ENST00000327047.1	-	0	2064				RP11-166N6.2_ENST00000469268.1_RNA|CLRN1_ENST00000295911.2_Silent_p.G118G|RP11-166N6.3_ENST00000569170.1_Intron|CLRN1-AS1_ENST00000476886.1_RNA	NM_174878.2	NP_777367.1	P58418	CLRN1_HUMAN	clarin 1						actin filament organization (GO:0007015)|auditory receptor cell stereocilium organization (GO:0060088)|cell motility (GO:0048870)|equilibrioception (GO:0050957)|photoreceptor cell maintenance (GO:0045494)|positive regulation of lamellipodium assembly (GO:0010592)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|microvillus (GO:0005902)|plasma membrane (GO:0005886)				autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|skin(2)	14			LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)			CTCAGCTGTGGCCTTTAGTCA	0.468																																						ENST00000295911.2																			0				autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|skin(2)	14						c.(352-354)ggC>ggT		clarin 1							138	130	132					3																	150644648		2203	4300	6503	SO:0001624	3_prime_UTR_variant	7401				equilibrioception|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	integral to membrane		g.chr3:150644648G>A	AF388366	CCDS3153.1, CCDS35492.1, CCDS56285.1	3q25.1	2014-09-17	2006-11-23	2006-11-23	ENSG00000163646	ENSG00000163646			12605	protein-coding gene	gene with protein product		606397	"Usher syndrome 3A"	USH3, USH3A, RP61		7711740, 8975700	Standard	NM_052995		Approved		uc021xfr.1	P58418	OTTHUMG00000140368	ENST00000327047.1:c.*1075C>T	3.37:g.150644648G>A						RP11-166N6.3_ENST00000569170.1_Intron|RP11-166N6.2_ENST00000469268.1_RNA|CLRN1-AS1_ENST00000476886.1_RNA|CLRN1_ENST00000327047.1_3'UTR	p.G118G	NM_052995.2	NP_443721.1	P58418	CLRN1_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)		4	745	-			0					D3DNJ3|E1ACU9|Q8N6A9	Silent	SNP	ENST00000327047.1	37	c.354C>T	CCDS3153.1																																																																																				0.468	CLRN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277060.1			14	22	0	0	0	1	0	14	22					A	150644648	G	A	150644648	1	1	435	0	1	0	0	0	0	0	0	0	3557	1190	42	3		3	CLRN1	3	150644648	3'UTR	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	354768	150644648	47377782	2094	23019											
MED12L	116931	broad.mit.edu	37	chr3	151107924	151107924	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gaaccaatctcttactccagGtatgtgatgagaaagcacag	14	9	9	9	0	1	2	0	2	1	1	3	4	2	2	2	1	3	2	2	1	5	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:151107924G>A	ENST00000474524.1	+	36	5541		c.e36+1		MED12L_ENST00000273432.4_Splice_Site	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like							mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)			NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			CTTACTCCAGGTATGTGATGA	0.478																																						ENST00000474524.1																			0				NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128						c.e36+1		mediator complex subunit 12-like							113	125	121					3																	151107924		2203	4300	6503	SO:0001630	splice_region_variant	116931				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex		g.chr3:151107924G>A	AB046855, AF388364	CCDS33876.1	3q25.1	2007-07-30	2007-07-30		ENSG00000144893	ENSG00000144893			16050	protein-coding gene	gene with protein product		611318	"mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)-like"			11524702	Standard	XM_006713487		Approved	KIAA1635, TNRC11L, TRALPUSH, TRALP	uc003eyp.3	Q86YW9	OTTHUMG00000159844	ENST00000474524.1:c.5503+1G>A	3.37:g.151107924G>A						MED12L_ENST00000273432.4_Splice_Site		NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)		36	5541	+								Q96PC7|Q96PC8|Q9H9M5|Q9HCD7|Q9UI69	Splice_Site	SNP	ENST00000474524.1	37		CCDS33876.1	.	.	.	.	.	.	.	.	.	.	G	18.95	3.731168	0.69189	.	.	ENSG00000144893	ENST00000474524;ENST00000273432	.	.	.	5.51	5.51	0.81932	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.1849	0.86863	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	MED12L	152590614	1.000000	0.71417	0.993000	0.49108	0.698000	0.40448	6.995000	0.76257	2.577000	0.86979	0.655000	0.94253	.		0.478	MED12L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357707.2	NM_053002	Intron	26	58	0	0	0	1	0	26	58					A	151107924	G	A	151107924	5	1	435	1	0	0	0	0	0	0	1	0	9429	1275	44	3	5646	3	MED12L	3	151107924	Splice_Site	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	463276	151107924	46914506	2095	23020											
MED12L	116931	broad.mit.edu	37	chr3	151150562	151150562	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaccagccacagcaaggagtGactccgtatgggcatccttc	11	7	10	13	1	0	1	0	1	0	0	3	2	2	2	4	2	3	3	4	2	3	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:151150562G>A	ENST00000474524.1	+	43	6446	c.6408G>A	c.(6406-6408)gtG>gtA	p.V2136V	MED12L_ENST00000273432.4_Silent_p.V1800V	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	2136						mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)			NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			AGCAAGGAGTGACTCCGTATG	0.398																																						ENST00000474524.1																			0				NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128						c.(6406-6408)gtG>gtA		mediator complex subunit 12-like							111	99	103					3																	151150562		2203	4300	6503	SO:0001819	synonymous_variant	116931				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex		g.chr3:151150562G>A	AB046855, AF388364	CCDS33876.1	3q25.1	2007-07-30	2007-07-30		ENSG00000144893	ENSG00000144893			16050	protein-coding gene	gene with protein product		611318	"mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)-like"			11524702	Standard	XM_006713487		Approved	KIAA1635, TNRC11L, TRALPUSH, TRALP	uc003eyp.3	Q86YW9	OTTHUMG00000159844	ENST00000474524.1:c.6408G>A	3.37:g.151150562G>A						MED12L_ENST00000273432.4_Silent_p.V1800V	p.V2136V	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)		43	6446	+			2136					Q96PC7|Q96PC8|Q9H9M5|Q9HCD7|Q9UI69	Silent	SNP	ENST00000474524.1	37	c.6408G>A	CCDS33876.1																																																																																				0.398	MED12L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357707.2	NM_053002		8	38	0	0	0	1	0	8	38					A	151150562	G	A	151150562	2	1	435	1	0	0	0	0	0	0	0	1	9429	1277	45	3		3	MED12L	3	151150562	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	42638	151150562	46871868	2096	23021											
IGSF10	285313	broad.mit.edu	37	chr3	151155715	151155715	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gggatttcgggctacacataCgtactctccagaatcgagca	11	9	10	11	3	1	1	0	0	1	1	4	3	1	2	1	2	4	3	1	2	4	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:151155715C>T	ENST00000282466.3	-	6	6633	c.6634G>A	c.(6634-6636)Gta>Ata	p.V2212I	IGSF10_ENST00000495443.1_5'UTR	NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	2212	Ig-like C2-type 8.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)	extracellular region (GO:0005576)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			GCTACACATACGTACTCTCCA	0.418																																						ENST00000282466.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116						c.(6634-6636)Gta>Ata		immunoglobulin superfamily, member 10							116	110	112					3																	151155715		2203	4300	6503	SO:0001583	missense	285313				cell differentiation|multicellular organismal development|ossification	extracellular region		g.chr3:151155715C>T	AY273815	CCDS3160.1	3q25.1	2013-01-11			ENSG00000152580	ENSG00000152580		"Immunoglobulin superfamily / I-set domain containing"	26384	protein-coding gene	gene with protein product						12477932	Standard	NM_178822		Approved	FLJ25972, CMF608	uc011bod.2	Q6WRI0	OTTHUMG00000159856	ENST00000282466.3:c.6634G>A	3.37:g.151155715C>T	ENSP00000282466:p.Val2212Ile					IGSF10_ENST00000495443.1_5'UTR	p.V2212I	NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)		6	6633	-			2212			Ig-like C2-type 8.		Q86YJ9|Q8N772|Q8NA84	Missense_Mutation	SNP	ENST00000282466.3	37	c.6634G>A	CCDS3160.1	.	.	.	.	.	.	.	.	.	.	C	15.15	2.747052	0.49257	.	.	ENSG00000152580	ENST00000282466	T	0.27402	1.67	5.77	3.61	0.41365	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.348339	0.20413	N	0.092840	T	0.16896	0.0406	N	0.10733	0.035	0.41134	D	0.985906	D;B	0.55605	0.972;0.162	P;B	0.49332	0.607;0.079	T	0.06110	-1.0845	10	0.12103	T	0.63	.	5.5566	0.17119	0.0:0.4701:0.3592:0.1707	.	2212;239	Q6WRI0;Q6WRI0-2	IGS10_HUMAN;.	I	2212	ENSP00000282466:V2212I	ENSP00000282466:V2212I	V	-	1	0	IGSF10	152638405	0.640000	0.27243	0.988000	0.46212	0.940000	0.58332	1.105000	0.31086	1.403000	0.46800	0.591000	0.81541	GTA		0.418	IGSF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357782.1	NM_178822		25	66	0	0	0	1	0	25	66					T	151155715	C	T	151155715	3	4	435	1	0	0	0	0	1	0	0	0	7597	536	19	1	1241	1	IGSF10	3	151155715	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	5153	151155715	46866715	2097	23022											
IGSF10	285313	broad.mit.edu	37	chr3	151166251	151166251	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcagctagaagccaatccacGtgtggggtggggtctccttg	7	10	14	10	1	2	1	1	0	1	1	4	1	3	1	3	4	2	1	3	4	3	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:151166251G>A	ENST00000282466.3	-	4	1517	c.1518C>T	c.(1516-1518)caC>caT	p.H506H		NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	506	Ig-like C2-type 1.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)	extracellular region (GO:0005576)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			GCCAATCCACGTGTGGGGTGG	0.483																																						ENST00000282466.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116						c.(1516-1518)caC>caT		immunoglobulin superfamily, member 10							182	180	181					3																	151166251		2203	4300	6503	SO:0001819	synonymous_variant	285313				cell differentiation|multicellular organismal development|ossification	extracellular region		g.chr3:151166251G>A	AY273815	CCDS3160.1	3q25.1	2013-01-11			ENSG00000152580	ENSG00000152580		"Immunoglobulin superfamily / I-set domain containing"	26384	protein-coding gene	gene with protein product						12477932	Standard	NM_178822		Approved	FLJ25972, CMF608	uc011bod.2	Q6WRI0	OTTHUMG00000159856	ENST00000282466.3:c.1518C>T	3.37:g.151166251G>A							p.H506H	NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)		4	1517	-			506			Ig-like C2-type 1.		Q86YJ9|Q8N772|Q8NA84	Silent	SNP	ENST00000282466.3	37	c.1518C>T	CCDS3160.1																																																																																				0.483	IGSF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357782.1	NM_178822		5	153	0	0	0	1	0	5	153					A	151166251	G	A	151166251	2	1	435	1	0	0	0	0	0	0	0	1	7597	1136	40	1		1	IGSF10	3	151166251	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	10536	151166251	46856179	2098	23023											
SGEF	26084	broad.mit.edu	37	chr3	153840055	153840055	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gcgcccagcggagagcggtgGccaatggtgggacggcatcc	7	4	18	12	4	0	1	0	0	0	1	1	3	1	2	3	6	2	1	3	6	1	0	rs552521961		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:153840055G>A	ENST00000356448.4	+	2	558	c.274G>A	c.(274-276)Gcc>Acc	p.A92T	ARHGEF26-AS1_ENST00000480639.1_RNA|ARHGEF26-AS1_ENST00000479270.1_RNA|ARHGEF26-AS1_ENST00000467912.1_RNA|ARHGEF26_ENST00000465093.1_Missense_Mutation_p.A92T|ARHGEF26-AS1_ENST00000491862.1_RNA|ARHGEF26_ENST00000465817.1_Missense_Mutation_p.A92T	NM_001251962.1	NP_001238891.1	Q96DR7	ARHGQ_HUMAN	Rho guanine nucleotide exchange factor (GEF) 26	92					endothelial cell morphogenesis (GO:0001886)|ruffle assembly (GO:0097178)	cell projection (GO:0042995)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			endometrium(4)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1)	23						GAGAGCGGTGGCCAATGGTGG	0.697													G|||	1	0.000199681	0	0	5008	,	,		12720	0		0	False		,,,				2504	0.001				GBM(163;191 2003 24758 29593 48540)|Ovarian(152;631 1885 20165 22910 51013)	ENST00000356448.4																			0				endometrium(4)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1)	23						c.(274-276)Gcc>Acc		Rho guanine nucleotide exchange factor (GEF) 26							12	16	15					3																	153840055		2000	4136	6136	SO:0001583	missense	26084				regulation of Rho protein signal transduction	intracellular|ruffle	Rho guanyl-nucleotide exchange factor activity	g.chr3:153840055G>A	BC016628	CCDS46938.1, CCDS58858.1	3q25.2	2013-01-10			ENSG00000114790	ENSG00000114790		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	24490	protein-coding gene	gene with protein product	"Src homology 3 domain-containing guanine nucleotide exchange factor"					15133129, 12697679	Standard	NM_015595		Approved	DKFZP434D146, SGEF	uc021xgc.1	Q96DR7	OTTHUMG00000159098	ENST00000356448.4:c.274G>A	3.37:g.153840055G>A	ENSP00000348828:p.Ala92Thr					ARHGEF26_ENST00000465817.1_Missense_Mutation_p.A92T|ARHGEF26_ENST00000465093.1_Missense_Mutation_p.A92T	p.A92T	NM_001251962.1	NP_001238891.1	Q96DR7	ARHGQ_HUMAN			2	558	+			92					B3KVP8|E9PBD0|Q68CL1|Q6AZ96|Q6Q8Q8|Q96AW8|Q96DR6|Q9H9D7|Q9H9R2|Q9UFW5	Missense_Mutation	SNP	ENST00000356448.4	37	c.274G>A	CCDS46938.1	.	.	.	.	.	.	.	.	.	.	G	5.791	0.330196	0.10956	.	.	ENSG00000114790	ENST00000356448;ENST00000465093;ENST00000465817	T;T;T	0.58060	0.36;0.36;2.17	4.49	-5.15	0.02866	.	1.068430	0.07356	N	0.883215	T	0.16642	0.0400	N	0.01874	-0.695	0.19775	N	0.999953	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.21999	-1.0229	10	0.09843	T	0.71	-3.3443	2.0423	0.03553	0.3238:0.386:0.1712:0.1191	.	92;92	E9PBD0;Q96DR7	.;ARHGQ_HUMAN	T	92	ENSP00000348828:A92T;ENSP00000423418:A92T;ENSP00000423295:A92T	ENSP00000348828:A92T	A	+	1	0	ARHGEF26	155322745	0.000000	0.05858	0.029000	0.17559	0.097000	0.18754	-2.609000	0.00886	-0.369000	0.08028	-0.314000	0.08810	GCC		0.697	ARHGEF26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353287.3	NM_015595		8	8	0	0	0	1	0	8	8					A	153840055	G	A	153840055	3	1	435	1	0	0	0	0	1	0	0	0	14205	1203	42	3	276	3	SGEF	3	153840055	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	2673804	153840055	44182375	2099	23024											
DHX36	170506	broad.mit.edu	37	chr3	154002379	154002379	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tttttttttttacctcaaacGcattcacaactgttaagtga	11	18	4	8	1	2	1	2	1	0	0	2	1	2	1	1	0	3	2	1	0	4	8			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:154002379G>A	ENST00000496811.1	-	19	2365	c.2285C>T	c.(2284-2286)gCg>gTg	p.A762V	DHX36_ENST00000329463.5_Missense_Mutation_p.A748V|DHX36_ENST00000544526.1_Missense_Mutation_p.A748V|DHX36_ENST00000308361.6_Intron	NM_020865.2	NP_065916.2	Q9H2U1	DHX36_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 36	762					ATP catabolic process (GO:0006200)|innate immune response (GO:0045087)|ossification (GO:0001503)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|response to exogenous dsRNA (GO:0043330)|response to virus (GO:0009615)|RNA secondary structure unwinding (GO:0010501)|transcription, DNA-templated (GO:0006351)	chromosome, telomeric region (GO:0000781)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|core promoter binding (GO:0001047)|DNA-dependent ATPase activity (GO:0008094)|double-stranded RNA binding (GO:0003725)|G-quadruplex DNA binding (GO:0051880)|G-quadruplex RNA binding (GO:0002151)|histone deacetylase binding (GO:0042826)|poly(A) RNA binding (GO:0044822)|transcription regulatory region DNA binding (GO:0044212)			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(11)|prostate(2)|skin(1)|urinary_tract(1)	35			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			TACCTCAAACGCATTCACAAC	0.299																																						ENST00000496811.1																			0				endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(11)|prostate(2)|skin(1)|urinary_tract(1)	35						c.(2284-2286)gCg>gTg		DEAH (Asp-Glu-Ala-His) box polypeptide 36							119	112	114					3																	154002379		2203	4299	6502	SO:0001583	missense	170506					cytoplasm|nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding	g.chr3:154002379G>A	AF217190	CCDS3171.1, CCDS54657.1	3q25.2	2012-09-20	2003-06-13	2003-06-20	ENSG00000174953	ENSG00000174953		"DEAH-boxes"	14410	protein-coding gene	gene with protein product		612767	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 36"	DDX36			Standard	NM_020865		Approved	MLEL1, KIAA1488	uc003ezy.4	Q9H2U1	OTTHUMG00000159109	ENST00000496811.1:c.2285C>T	3.37:g.154002379G>A	ENSP00000417078:p.Ala762Val					DHX36_ENST00000544526.1_Missense_Mutation_p.A748V|DHX36_ENST00000308361.6_Intron|DHX36_ENST00000329463.5_Missense_Mutation_p.A748V	p.A762V	NM_020865.2	NP_065916.2	Q9H2U1	DHX36_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)		19	2365	-			762					B2RB00|Q70JU3|Q8IYE5|Q9P240	Missense_Mutation	SNP	ENST00000496811.1	37	c.2285C>T	CCDS3171.1	.	.	.	.	.	.	.	.	.	.	G	33	5.209047	0.95069	.	.	ENSG00000174953	ENST00000496811;ENST00000544526;ENST00000329463;ENST00000481941	T;T;T;T	0.02395	4.31;4.31;4.31;4.31	5.48	5.48	0.80851	.	0.000000	0.85682	D	0.000000	T	0.10981	0.0268	M	0.75447	2.3	0.80722	D	1	D;D	0.57571	0.973;0.98	P;P	0.51701	0.677;0.578	T	0.00912	-1.1517	10	0.48119	T	0.1	.	19.3588	0.94425	0.0:0.0:1.0:0.0	.	748;762	Q9H2U1-2;Q9H2U1	.;DHX36_HUMAN	V	762;748;748;676	ENSP00000417078:A762V;ENSP00000444247:A748V;ENSP00000330113:A748V;ENSP00000419862:A676V	ENSP00000330113:A748V	A	-	2	0	DHX36	155485073	1.000000	0.71417	1.000000	0.80357	0.923000	0.55619	9.550000	0.98110	2.587000	0.87381	0.655000	0.94253	GCG		0.299	DHX36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353349.1	NM_020865		12	19	0	0	0	1	0	12	19					A	154002379	G	A	154002379	3	1	435	1	0	0	0	0	1	0	0	0	4509	1087	38	1	769	1	DHX36	3	154002379	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	162324	154002379	44020051	2100	23025											
DHX36	170506	broad.mit.edu	37	chr3	154010465	154010465	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cctccatctatcacataaacGacatcatctatggtaatgct	13	12	4	12	1	4	0	2	0	2	0	5	1	5	0	2	1	2	2	2	1	5	4	rs373985162		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:154010465G>A	ENST00000496811.1	-	15	1769	c.1689C>T	c.(1687-1689)gtC>gtT	p.V563V	DHX36_ENST00000329463.5_Silent_p.V549V|DHX36_ENST00000544526.1_Silent_p.V549V|DHX36_ENST00000308361.6_Silent_p.V563V	NM_020865.2	NP_065916.2	Q9H2U1	DHX36_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 36	563	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				ATP catabolic process (GO:0006200)|innate immune response (GO:0045087)|ossification (GO:0001503)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|response to exogenous dsRNA (GO:0043330)|response to virus (GO:0009615)|RNA secondary structure unwinding (GO:0010501)|transcription, DNA-templated (GO:0006351)	chromosome, telomeric region (GO:0000781)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|core promoter binding (GO:0001047)|DNA-dependent ATPase activity (GO:0008094)|double-stranded RNA binding (GO:0003725)|G-quadruplex DNA binding (GO:0051880)|G-quadruplex RNA binding (GO:0002151)|histone deacetylase binding (GO:0042826)|poly(A) RNA binding (GO:0044822)|transcription regulatory region DNA binding (GO:0044212)			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(11)|prostate(2)|skin(1)|urinary_tract(1)	35			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			TCACATAAACGACATCATCTA	0.363																																						ENST00000496811.1																			0				endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(11)|prostate(2)|skin(1)|urinary_tract(1)	35						c.(1687-1689)gtC>gtT		DEAH (Asp-Glu-Ala-His) box polypeptide 36		G	,	1,4405	2.1+/-5.4	0,1,2202	132	125	128		1647,1689	-3.6	1	3		128	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	DHX36	NM_001114397.1,NM_020865.2	,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,	549/995,563/1009	154010465	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	170506					cytoplasm|nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding	g.chr3:154010465G>A	AF217190	CCDS3171.1, CCDS54657.1	3q25.2	2012-09-20	2003-06-13	2003-06-20	ENSG00000174953	ENSG00000174953		"DEAH-boxes"	14410	protein-coding gene	gene with protein product		612767	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 36"	DDX36			Standard	NM_020865		Approved	MLEL1, KIAA1488	uc003ezy.4	Q9H2U1	OTTHUMG00000159109	ENST00000496811.1:c.1689C>T	3.37:g.154010465G>A						DHX36_ENST00000544526.1_Silent_p.V549V|DHX36_ENST00000308361.6_Silent_p.V563V|DHX36_ENST00000329463.5_Silent_p.V549V	p.V563V	NM_020865.2	NP_065916.2	Q9H2U1	DHX36_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)		15	1769	-			563			Helicase C-terminal.		B2RB00|Q70JU3|Q8IYE5|Q9P240	Silent	SNP	ENST00000496811.1	37	c.1689C>T	CCDS3171.1	.	.	.	.	.	.	.	.	.	.	G	8.443	0.851377	0.17034	2.27E-4	0.0	ENSG00000174953	ENST00000469977	.	.	.	6.17	-3.58	0.04597	.	.	.	.	.	T	0.46889	0.1416	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.43893	-0.9363	4	.	.	.	.	4.6914	0.12783	0.1006:0.1875:0.4801:0.2319	.	.	.	.	L	43	.	.	S	-	2	0	DHX36	155493159	0.000000	0.05858	0.993000	0.49108	0.977000	0.68977	-2.432000	0.01022	-0.299000	0.08909	-0.262000	0.10625	TCG		0.363	DHX36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353349.1	NM_020865		18	52	0	0	0	1	0	18	52					A	154010465	G	A	154010465	2	1	435	1	0	0	0	0	0	0	0	1	4509	1045	37	2		2	DHX36	3	154010465	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	8086	154010465	44011965	2101	23026											
PLCH1	23007	broad.mit.edu	37	chr3	155199255	155199255	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gactttgtcttcacagtcacGcccttcttgtctctaatgcc	6	15	6	14	1	5	0	2	0	3	0	6	1	5	0	2	0	1	0	2	0	1	5	rs369115422		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:155199255G>A	ENST00000340059.7	-	23	4583	c.4584C>T	c.(4582-4584)ggC>ggT	p.G1528G	PLCH1_ENST00000460012.1_Silent_p.G1490G|PLCH1_ENST00000447496.2_3'UTR|PLCH1_ENST00000334686.6_Silent_p.G1490G|PLCH1_ENST00000494598.1_Intron|PLCH1_ENST00000414191.1_Silent_p.G1490G	NM_001130960.1	NP_001124432.1	Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	1528					inositol phosphate metabolic process (GO:0043647)|lipid catabolic process (GO:0016042)|phosphatidylinositol-mediated signaling (GO:0048015)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent phospholipase C activity (GO:0050429)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871)	p.G1490G(1)		NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			TCACAGTCACGCCCTTCTTGT	0.463																																						ENST00000460012.1																			1	Substitution - coding silent(1)	p.G1490G(1)	large_intestine(1)	NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107						c.(4468-4470)ggC>ggT		phospholipase C, eta 1		G	,,	1,4405	2.1+/-5.4	0,1,2202	69	70	70		4584,,4470	-10.5	0	3		70	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,utr-3,coding-synonymous	PLCH1	NM_001130960.1,NM_001130961.1,NM_014996.2	,,	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	,,	1528/1694,,1490/1656	155199255	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	23007				lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr3:155199255G>A	AB028992	CCDS33881.1, CCDS46939.1, CCDS46940.1	3q25	2013-01-10	2006-03-16	2006-03-16	ENSG00000114805	ENSG00000114805	3.1.4.11	"EF-hand domain containing"	29185	protein-coding gene	gene with protein product		612835	"phospholipase C-like 3"	PLCL3		15702972	Standard	NM_014996		Approved	KIAA1069, MGC117152, DKFZp434C1372, PLCeta1	uc021xge.1	Q4KWH8	OTTHUMG00000158477	ENST00000340059.7:c.4584C>T	3.37:g.155199255G>A						PLCH1_ENST00000494598.1_Intron|PLCH1_ENST00000447496.2_3'UTR|PLCH1_ENST00000414191.1_Silent_p.G1490G|PLCH1_ENST00000340059.7_Silent_p.G1528G|PLCH1_ENST00000334686.6_Silent_p.G1490G	p.G1490G			Q4KWH8	PLCH1_HUMAN	Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)		23	4827	-			1528					Q29RV9|Q4KWH9|Q68CN0|Q86XK4|Q9H9U2|Q9UPT3	Silent	SNP	ENST00000340059.7	37	c.4470C>T	CCDS46939.1																																																																																				0.463	PLCH1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000351125.1	NM_014996		20	70	0	0	0	1	0	20	70					A	155199255	G	A	155199255	2	1	435	1	0	0	0	0	0	0	0	1	12037	1074	38	1		1	PLCH1	3	155199255	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	1188790	155199255	42823175	2102	23027											
PLCH1	23007	broad.mit.edu	37	chr3	155232512	155232512	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tacaagagggaatcagatacCtgcttcaggtgtgcatttaa	13	11	10	7	0	2	2	2	0	0	2	2	3	2	3	1	2	4	2	1	2	5	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:155232512C>A	ENST00000340059.7	-	11	1595	c.1596G>T	c.(1594-1596)caG>caT	p.Q532H	PLCH1_ENST00000460012.1_Splice_Site_p.Q514H|PLCH1_ENST00000447496.2_Splice_Site_p.Q532H|PLCH1_ENST00000334686.6_Splice_Site_p.Q514H|PLCH1_ENST00000494598.1_Splice_Site_p.Q532H|PLCH1_ENST00000414191.1_Splice_Site_p.Q514H	NM_001130960.1	NP_001124432.1	Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	532					inositol phosphate metabolic process (GO:0043647)|lipid catabolic process (GO:0016042)|phosphatidylinositol-mediated signaling (GO:0048015)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent phospholipase C activity (GO:0050429)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871)			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			AATCAGATACCTGCTTCAGGT	0.388																																						ENST00000460012.1																			0				NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107						c.e12+1		phospholipase C, eta 1							79	72	74					3																	155232512		2203	4300	6503	SO:0001630	splice_region_variant	23007				lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr3:155232512C>A	AB028992	CCDS33881.1, CCDS46939.1, CCDS46940.1	3q25	2013-01-10	2006-03-16	2006-03-16	ENSG00000114805	ENSG00000114805	3.1.4.11	"EF-hand domain containing"	29185	protein-coding gene	gene with protein product		612835	"phospholipase C-like 3"	PLCL3		15702972	Standard	NM_014996		Approved	KIAA1069, MGC117152, DKFZp434C1372, PLCeta1	uc021xge.1	Q4KWH8	OTTHUMG00000158477	ENST00000340059.7:c.1596+1G>T	3.37:g.155232512C>A						PLCH1_ENST00000494598.1_Splice_Site_p.Q532_splice|PLCH1_ENST00000447496.2_Splice_Site_p.Q532_splice|PLCH1_ENST00000414191.1_Splice_Site_p.Q514_splice|PLCH1_ENST00000340059.7_Splice_Site_p.Q532_splice|PLCH1_ENST00000334686.6_Splice_Site_p.Q514_splice	p.Q514_splice			Q4KWH8	PLCH1_HUMAN	Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)		12	1899	-			532					Q29RV9|Q4KWH9|Q68CN0|Q86XK4|Q9H9U2|Q9UPT3	Splice_Site	SNP	ENST00000340059.7	37	c.1542_splice	CCDS46939.1	.	.	.	.	.	.	.	.	.	.	C	26.5	4.742636	0.89573	.	.	ENSG00000114805	ENST00000494598;ENST00000460012;ENST00000447496;ENST00000340059;ENST00000334686;ENST00000414191	T;T;T;T;T;T	0.32753	1.95;1.82;1.44;1.82;1.82;1.82	5.8	5.8	0.92144	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (1);	0.246723	0.43416	D	0.000568	T	0.55257	0.1909	M	0.65975	2.015	0.80722	D	1	D;D;P	0.69078	0.997;0.994;0.905	D;P;P	0.66716	0.946;0.885;0.6	T	0.48670	-0.9015	9	.	.	.	.	20.063	0.97692	0.0:1.0:0.0:0.0	.	514;532;532	Q4KWH8-2;Q4KWH8;Q4KWH8-3	.;PLCH1_HUMAN;.	H	532;514;532;532;514;514	ENSP00000419100:Q532H;ENSP00000417502:Q514H;ENSP00000402759:Q532H;ENSP00000345988:Q532H;ENSP00000335469:Q514H;ENSP00000412977:Q514H	.	Q	-	3	2	PLCH1	156715206	1.000000	0.71417	1.000000	0.80357	0.930000	0.56654	7.291000	0.78721	2.735000	0.93741	0.655000	0.94253	CAG		0.388	PLCH1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000351125.1	NM_014996	Missense_Mutation	18	37	1	0	1.33834e-09	1	1.42249e-09	18	37					A	155232512	C	A	155232512	5	1	435	1	0	0	0	0	0	0	1	0	12037	695	24	5	3552	5	PLCH1	3	155232512	Splice_Site	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	33257	155232512	42789918	2103	23028											
PLCH1	23007	broad.mit.edu	37	chr3	155232632	155232632	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	aacagtgactccagttttttCcttatgaaagattccacctg	11	14	6	10	0	0	3	0	2	0	1	3	3	3	3	4	0	1	1	4	0	3	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:155232632C>T	ENST00000340059.7	-	11	1475	c.1476G>A	c.(1474-1476)agG>agA	p.R492R	PLCH1_ENST00000460012.1_Silent_p.R474R|PLCH1_ENST00000447496.2_Silent_p.R492R|PLCH1_ENST00000334686.6_Silent_p.R474R|PLCH1_ENST00000494598.1_Silent_p.R492R|PLCH1_ENST00000414191.1_Silent_p.R474R	NM_001130960.1	NP_001124432.1	Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	492					inositol phosphate metabolic process (GO:0043647)|lipid catabolic process (GO:0016042)|phosphatidylinositol-mediated signaling (GO:0048015)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent phospholipase C activity (GO:0050429)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871)			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			CCAGTTTTTTCCTTATGAAAG	0.388																																						ENST00000460012.1																			0				NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107						c.(1420-1422)agG>agA		phospholipase C, eta 1							97	86	90					3																	155232632		2203	4300	6503	SO:0001819	synonymous_variant	23007				lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr3:155232632C>T	AB028992	CCDS33881.1, CCDS46939.1, CCDS46940.1	3q25	2013-01-10	2006-03-16	2006-03-16	ENSG00000114805	ENSG00000114805	3.1.4.11	"EF-hand domain containing"	29185	protein-coding gene	gene with protein product		612835	"phospholipase C-like 3"	PLCL3		15702972	Standard	NM_014996		Approved	KIAA1069, MGC117152, DKFZp434C1372, PLCeta1	uc021xge.1	Q4KWH8	OTTHUMG00000158477	ENST00000340059.7:c.1476G>A	3.37:g.155232632C>T						PLCH1_ENST00000494598.1_Silent_p.R492R|PLCH1_ENST00000447496.2_Silent_p.R492R|PLCH1_ENST00000414191.1_Silent_p.R474R|PLCH1_ENST00000340059.7_Silent_p.R492R|PLCH1_ENST00000334686.6_Silent_p.R474R	p.R474R			Q4KWH8	PLCH1_HUMAN	Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)		12	1779	-			492					Q29RV9|Q4KWH9|Q68CN0|Q86XK4|Q9H9U2|Q9UPT3	Silent	SNP	ENST00000340059.7	37	c.1422G>A	CCDS46939.1																																																																																				0.388	PLCH1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000351125.1	NM_014996		26	27	0	0	0	1	0	26	27					T	155232632	C	T	155232632	2	4	435	1	0	0	0	0	0	0	0	1	12037	854	30	3		3	PLCH1	3	155232632	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	120	155232632	42789798	2104	23029											
KCNAB1	7881	broad.mit.edu	37	chr3	155861202	155861202	+	Intron	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ccagagcagagacgggcatgGcatacaggtactgctgattg	11	7	14	9	1	0	3	0	1	0	2	0	4	0	3	1	3	4	5	1	3	2	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:155861202G>A	ENST00000490337.1	+	1	339				KCNAB1_ENST00000471742.1_Missense_Mutation_p.A79T|KCNAB1_ENST00000389636.5_Intron	NM_172160.2	NP_751892.1	Q14722	KCAB1_HUMAN	potassium voltage-gated channel, shaker-related subfamily, beta member 1						learning or memory (GO:0007611)|potassium ion transport (GO:0006813)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	potassium channel regulator activity (GO:0015459)|voltage-gated potassium channel activity (GO:0005249)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	28			LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)			GACGGGCATGGCATACAGGTA	0.453																																						ENST00000471742.1																			0				breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	28						c.(235-237)Gca>Aca		potassium voltage-gated channel, shaker-related subfamily, beta member 1							110	108	108					3																	155861202		2203	4300	6503	SO:0001627	intron_variant	7881					cytoplasm|integral to membrane	oxidoreductase activity|potassium channel regulator activity|voltage-gated potassium channel activity	g.chr3:155861202G>A	U33428	CCDS3174.1, CCDS3175.1, CCDS33882.1	3q26.1	2006-11-29			ENSG00000169282	ENSG00000169282		"Potassium channels", "Aldo-keto reductases"	6228	protein-coding gene	gene with protein product		601141				8838324, 7499366	Standard	NM_172160		Approved	AKR6A3, KCNA1B, hKvBeta3, Kvb1.3, hKvb3	uc003far.2	Q14722	OTTHUMG00000158552	ENST00000490337.1:c.275+22527G>A	3.37:g.155861202G>A						KCNAB1_ENST00000490337.1_Intron|KCNAB1_ENST00000389636.5_Intron	p.A79T	NM_003471.3	NP_003462.2	Q14722	KCAB1_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)		1	452	+			90					A8K9H8|A8KAD4|B3KPZ4|Q13031|Q13302|Q16547|Q6PI60|Q99869	Missense_Mutation	SNP	ENST00000490337.1	37	c.235G>A	CCDS3174.1	.	.	.	.	.	.	.	.	.	.	G	12.96	2.095788	0.36952	.	.	ENSG00000169282	ENST00000471742	T	0.41758	0.99	5.29	0.157	0.14915	.	.	.	.	.	T	0.24774	0.0601	.	.	.	0.80722	D	1	B	0.15719	0.014	B	0.18871	0.023	T	0.06862	-1.0803	8	0.28530	T	0.3	.	4.1948	0.10438	0.3404:0.3191:0.3405:0.0	.	79	Q14722-3	.	T	79	ENSP00000418956:A79T	ENSP00000418956:A79T	A	+	1	0	KCNAB1	157343896	0.378000	0.25114	0.973000	0.42090	0.993000	0.82548	0.373000	0.20484	0.313000	0.23062	0.561000	0.74099	GCA		0.453	KCNAB1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000351411.1	NM_003471		15	86	0	0	0	1	0	15	86					A	155861202	G	A	155861202	1	1	435	0	1	0	0	0	0	0	0	0	8009	1203	42	3		3	KCNAB1	3	155861202	Intron	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	628570	155861202	42161228	2105	23030											
KCNAB1	7881	broad.mit.edu	37	chr3	156009906	156009906	+	Intron	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccaccgcaaagcagactggCatgaaatataggtatgcacg	14	7	10	10	2	0	2	0	1	0	1	1	2	1	2	2	2	2	5	2	2	5	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:156009906C>T	ENST00000490337.1	+	2	339				KCNAB1_ENST00000302490.8_Silent_p.G70G|KCNAB1_ENST00000471742.1_Intron|KCNAB1_ENST00000389636.5_Intron|KCNAB1_ENST00000389634.5_Silent_p.G70G	NM_172160.2	NP_751892.1	Q14722	KCAB1_HUMAN	potassium voltage-gated channel, shaker-related subfamily, beta member 1						learning or memory (GO:0007611)|potassium ion transport (GO:0006813)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	potassium channel regulator activity (GO:0015459)|voltage-gated potassium channel activity (GO:0005249)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	28			LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)			AGCAGACTGGCATGAAATATA	0.517																																						ENST00000302490.8																			0				breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	28						c.(208-210)ggC>ggT		potassium voltage-gated channel, shaker-related subfamily, beta member 1							63	58	60					3																	156009906		2203	4300	6503	SO:0001627	intron_variant	7881					cytoplasm|integral to membrane	oxidoreductase activity|potassium channel regulator activity|voltage-gated potassium channel activity	g.chr3:156009906C>T	U33428	CCDS3174.1, CCDS3175.1, CCDS33882.1	3q26.1	2006-11-29			ENSG00000169282	ENSG00000169282		"Potassium channels", "Aldo-keto reductases"	6228	protein-coding gene	gene with protein product		601141				8838324, 7499366	Standard	NM_172160		Approved	AKR6A3, KCNA1B, hKvBeta3, Kvb1.3, hKvb3	uc003far.2	Q14722	OTTHUMG00000158552	ENST00000490337.1:c.276-129499C>T	3.37:g.156009906C>T						KCNAB1_ENST00000490337.1_Intron|KCNAB1_ENST00000471742.1_Intron|KCNAB1_ENST00000389634.5_Silent_p.G70G|KCNAB1_ENST00000389636.5_Intron	p.G70G	NM_172159.3	NP_751891.1	Q14722	KCAB1_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)		1	1081	+			88					A8K9H8|A8KAD4|B3KPZ4|Q13031|Q13302|Q16547|Q6PI60|Q99869	Silent	SNP	ENST00000490337.1	37	c.210C>T	CCDS3174.1																																																																																				0.517	KCNAB1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000351411.1	NM_003471		15	31	0	0	0	1	0	15	31					T	156009906	C	T	156009906	1	4	435	0	1	0	0	0	0	0	0	0	8009	697	25	3		3	KCNAB1	3	156009906	Intron	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	148704	156009906	42012524	2106	23031											
TIPARP	25976	broad.mit.edu	37	chr3	156411910	156411910	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	accaccctctagcaatgtcaActctatttaccacacagtct	12	11	3	15	0	4	0	1	0	3	0	4	0	4	0	3	0	3	1	3	0	5	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:156411910A>G	ENST00000461166.1	+	3	1607	c.1019A>G	c.(1018-1020)aAc>aGc	p.N340S	TIPARP_ENST00000295924.7_Missense_Mutation_p.N340S|TIPARP_ENST00000542783.1_Missense_Mutation_p.N340S|TIPARP_ENST00000486483.1_Missense_Mutation_p.N340S	NM_001184717.1	NP_001171646.1	Q7Z3E1	PARPT_HUMAN	TCDD-inducible poly(ADP-ribose) polymerase	340	WWE. {ECO:0000255|PROSITE- ProRule:PRU00248}.				androgen metabolic process (GO:0008209)|cellular response to organic cyclic compound (GO:0071407)|estrogen metabolic process (GO:0008210)|face morphogenesis (GO:0060325)|female gonad development (GO:0008585)|hemopoiesis (GO:0030097)|kidney development (GO:0001822)|multicellular organismal metabolic process (GO:0044236)|negative regulation of gene expression (GO:0010629)|nitrogen compound metabolic process (GO:0006807)|palate development (GO:0060021)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of protein catabolic process (GO:0045732)|post-embryonic development (GO:0009791)|protein ADP-ribosylation (GO:0006471)|skeletal system morphogenesis (GO:0048705)|smooth muscle tissue development (GO:0048745)|vasculogenesis (GO:0001570)	nucleus (GO:0005634)	enhancer binding (GO:0035326)|metal ion binding (GO:0046872)|NAD+ ADP-ribosyltransferase activity (GO:0003950)			NS(1)|breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	23			LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)			AGCAATGTCAACTCTATTTAC	0.418																																					Ovarian(171;276 1987 3319 6837 11197)	ENST00000461166.1																			0				NS(1)|breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	23						c.(1018-1020)aAc>aGc		TCDD-inducible poly(ADP-ribose) polymerase							152	150	151					3																	156411910		2203	4300	6503	SO:0001583	missense	25976						NAD+ ADP-ribosyltransferase activity|nucleic acid binding|protein binding|zinc ion binding	g.chr3:156411910A>G	BX537965	CCDS3177.1	3q25.31	2011-06-22			ENSG00000163659	ENSG00000163659		"Poly (ADP-ribose) polymerases"	23696	protein-coding gene	gene with protein product		612480				12851707	Standard	NM_001184717		Approved	DKFZP434J214, DKFZp686N0351, DDF1, PARP7, PARP-7, PARP-1, pART14, RM1	uc021xgg.1	Q7Z3E1	OTTHUMG00000158646	ENST00000461166.1:c.1019A>G	3.37:g.156411910A>G	ENSP00000420612:p.Asn340Ser					TIPARP_ENST00000486483.1_Missense_Mutation_p.N340S|TIPARP_ENST00000295924.7_Missense_Mutation_p.N340S|TIPARP_ENST00000542783.1_Missense_Mutation_p.N340S	p.N340S	NM_001184717.1	NP_001171646.1	Q7Z3E1	PARPT_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)		3	1607	+			340			WWE.		D3DNK6|Q68CY9|Q86VP4|Q9Y4P7	Missense_Mutation	SNP	ENST00000461166.1	37	c.1019A>G	CCDS3177.1	.	.	.	.	.	.	.	.	.	.	A	9.979	1.227665	0.22542	.	.	ENSG00000163659	ENST00000486483;ENST00000295924;ENST00000461166;ENST00000473702;ENST00000481853;ENST00000542783	T;T;T;T;T;T	0.27720	1.65;1.65;1.65;1.65;1.65;1.65	5.14	5.14	0.70334	WWE domain (1);	0.388350	0.28230	N	0.016119	T	0.12646	0.0307	N	0.04508	-0.205	0.32965	D	0.521521	B	0.06786	0.001	B	0.04013	0.001	T	0.16808	-1.0390	10	0.20046	T	0.44	.	6.694	0.23189	0.7646:0.1553:0.0801:0.0	.	340	Q7Z3E1	PARPT_HUMAN	S	340	ENSP00000418757:N340S;ENSP00000295924:N340S;ENSP00000420612:N340S;ENSP00000419982:N340S;ENSP00000418829:N340S;ENSP00000438345:N340S	ENSP00000295924:N340S	N	+	2	0	TIPARP	157894604	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	1.339000	0.33885	2.087000	0.62958	0.533000	0.62120	AAC		0.418	TIPARP-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351618.1	NM_015508		36	60	0	0	0	1	0	36	60					G	156411910	A	G	156411910	3	3	435	1	0	0	0	0	1	0	0	0	15921	43	2	4	1025	4	TIPARP	3	156411910	Missense_Mutation	SNP	A	TCGA-XK-AAIW-01A-11D-A41K-08	402004	156411910	41610520	2107	23032											
VEPH1	79674	broad.mit.edu	37	chr3	156983435	156983435	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tttccttctatgagaggctgGccatcttgatttacaactgt	8	16	8	9	0	2	2	0	2	2	1	3	3	3	2	2	2	2	1	2	2	3	6			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:156983435G>A	ENST00000362010.2	-	13	2452	c.2145C>T	c.(2143-2145)ggC>ggT	p.G715G	RP11-550I24.2_ENST00000487238.1_RNA|VEPH1_ENST00000543418.1_Silent_p.G670G|RP11-550I24.2_ENST00000475102.1_RNA|VEPH1_ENST00000392833.2_Silent_p.G670G|RP11-550I24.2_ENST00000488040.1_RNA|VEPH1_ENST00000392832.2_Silent_p.G715G	NM_001167912.1	NP_001161384.1	Q14D04	MELT_HUMAN	ventricular zone expressed PH domain-containing 1	715						plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(5)|cervix(1)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|pancreas(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48			Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461)			TGAGAGGCTGGCCATCTTGAT	0.378																																						ENST00000362010.2																			0				autonomic_ganglia(1)|breast(5)|cervix(1)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|pancreas(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						c.(2143-2145)ggC>ggT		ventricular zone expressed PH domain-containing 1							134	125	128					3																	156983435		2203	4300	6503	SO:0001819	synonymous_variant	79674					plasma membrane		g.chr3:156983435G>A	AL713656	CCDS3179.1, CCDS54661.1, CCDS54662.1, CCDS54663.1	3q24-q25	2013-01-10	2012-12-10		ENSG00000197415	ENSG00000197415		"Pleckstrin homology (PH) domain containing"	25735	protein-coding gene	gene with protein product		609594	"ventricular zone expressed PH domain homolog 1 (zebrafish)"			11214970, 15388229	Standard	NM_024621		Approved	FLJ12604, KIAA1692	uc003fbk.2	Q14D04	OTTHUMG00000158711	ENST00000362010.2:c.2145C>T	3.37:g.156983435G>A						RP11-550I24.2_ENST00000475102.1_RNA|VEPH1_ENST00000543418.1_Silent_p.G670G|VEPH1_ENST00000392832.2_Silent_p.G715G|RP11-550I24.2_ENST00000488040.1_RNA|RP11-550I24.2_ENST00000487238.1_RNA|VEPH1_ENST00000392833.2_Silent_p.G670G	p.G715G	NM_001167912.1	NP_001161384.1	Q14D04	MELT_HUMAN	Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461)		13	2452	-			715					D3DNL0|F5GZ91|Q2TAA9|Q3MIX2|Q6PEL3|Q86TL5|Q8TCR3|Q96SP7|Q9C0H1|Q9H9Q7	Silent	SNP	ENST00000362010.2	37	c.2145C>T	CCDS3179.1																																																																																				0.378	VEPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351845.3	NM_024621		28	64	0	0	0	1	0	28	64					A	156983435	G	A	156983435	2	1	435	1	0	0	0	0	0	0	0	1	17151	1190	42	3		3	VEPH1	3	156983435	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	571525	156983435	41038995	2108	23033											
RSRC1	51319	broad.mit.edu	37	chr3	158015856	158015856	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaacatcaaagctggattaGaacatctggtaagttctcat	15	11	8	7	0	3	1	2	0	2	1	4	3	3	2	0	2	3	3	0	2	5	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:158015856G>T	ENST00000295930.3	+	5	685	c.523G>T	c.(523-525)Gaa>Taa	p.E175*	RSRC1_ENST00000464171.1_Nonsense_Mutation_p.E117*|RSRC1_ENST00000480820.1_Nonsense_Mutation_p.E175*|RSRC1_ENST00000475278.2_Nonsense_Mutation_p.E175*|RSRC1_ENST00000496268.1_3'UTR|RSRC1_ENST00000312179.6_Nonsense_Mutation_p.E117*	NM_001271838.1|NM_016625.2	NP_001258767.1|NP_057709.2	Q96IZ7	RSRC1_HUMAN	arginine/serine-rich coiled-coil 1	175					mRNA splicing, via spliceosome (GO:0000398)|nucleocytoplasmic transport (GO:0006913)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634)				cervix(1)|endometrium(2)|large_intestine(3)|lung(11)|upper_aerodigestive_tract(1)	18			Lung(72;0.00416)|LUSC - Lung squamous cell carcinoma(72;0.00575)			AGCTGGATTAGAACATCTGGT	0.308																																						ENST00000464171.1																			0				cervix(1)|endometrium(2)|large_intestine(3)|lung(11)|upper_aerodigestive_tract(1)	18						c.(349-351)Gaa>Taa		arginine/serine-rich coiled-coil 1							138	146	144					3																	158015856		2203	4298	6501	SO:0001587	stop_gained	51319				nucleocytoplasmic transport	cytoplasm|nuclear speck	protein binding	g.chr3:158015856G>T	AF208853	CCDS3181.1, CCDS63822.1	3q25.32	2009-09-09			ENSG00000174891	ENSG00000174891			24152	protein-coding gene	gene with protein product	"splicing factor, arginine/serine-rich 21"	613352				15798186, 19065146	Standard	NM_001271838		Approved	MGC12197, BM-011, SRrp53, SFRS21	uc003fbu.2	Q96IZ7	OTTHUMG00000158758	ENST00000295930.3:c.523G>T	3.37:g.158015856G>T	ENSP00000295930:p.Glu175*					RSRC1_ENST00000295930.3_Nonsense_Mutation_p.E175*|RSRC1_ENST00000312179.6_Nonsense_Mutation_p.E117*|RSRC1_ENST00000496268.1_3'UTR|RSRC1_ENST00000480820.1_Nonsense_Mutation_p.E175*|RSRC1_ENST00000475278.2_Nonsense_Mutation_p.E175*	p.E117*	NM_001271834.1	NP_001258763.1	Q96IZ7	RSRC1_HUMAN	Lung(72;0.00416)|LUSC - Lung squamous cell carcinoma(72;0.00575)		4	474	+			175			Arg/Ser-rich.		A8K2R9|Q96QK2|Q9NZE5	Nonsense_Mutation	SNP	ENST00000295930.3	37	c.349G>T	CCDS3181.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	21.8|21.8	4.206556|4.206556	0.79127|0.79127	.|.	.|.	ENSG00000174891|ENSG00000174891	ENST00000480820;ENST00000295930;ENST00000471994;ENST00000464171;ENST00000312179;ENST00000475278;ENST00000476899|ENST00000482822	.|.	.|.	.|.	5.95|5.95	5.95|5.95	0.96441|0.96441	.|.	0.055451|.	0.64402|.	D|.	0.000001|.	.|T	.|0.80341	.|0.4605	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.77736	.|-0.2476	.|3	0.72032|.	D|.	0.01|.	.|.	20.3931|20.3931	0.98965|0.98965	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	X|I	175;175;175;117;117;175;175|68	.|.	ENSP00000295930:E175X|.	E|R	+|+	1|2	0|0	RSRC1|RSRC1	159498550|159498550	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	9.229000|9.229000	0.95273|0.95273	2.824000|2.824000	0.97209|0.97209	0.655000|0.655000	0.94253|0.94253	GAA|AGA		0.308	RSRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352063.2	NM_016625		14	41	1	0	1.99824e-07	1	2.09433e-07	14	41					T	158015856	G	T	158015856	4	4	435	1	0	0	0	0	0	1	0	0	13714	943	33	5	537	5	RSRC1	3	158015856	Nonsense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	1032421	158015856	40006574	2109	23034											
LXN	56925	broad.mit.edu	37	chr3	158390150	158390150	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taaactcacctccatgctggCttgtttgaccttctgcacct	7	14	6	14	0	2	1	1	1	1	0	3	1	3	1	4	1	3	4	4	1	2	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:158390150C>T	ENST00000264265.3	-	1	332	c.118G>A	c.(118-120)Gcc>Acc	p.A40T	GFM1_ENST00000478576.1_Intron|GFM1_ENST00000486715.1_Intron|GFM1_ENST00000264263.5_Intron	NM_020169.3	NP_064554.3	Q9BS40	LXN_HUMAN	latexin	40	Cystatin-like fold 1. {ECO:0000250}.				detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|inflammatory response (GO:0006954)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	heparin binding (GO:0008201)|metalloendopeptidase inhibitor activity (GO:0008191)			breast(2)|endometrium(1)|kidney(2)	5			Lung(72;0.00309)|LUSC - Lung squamous cell carcinoma(72;0.0043)			TCCATGCTGGCTTGTTTGACC	0.602											OREG0015899	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000264265.3																			0				breast(2)|endometrium(1)|kidney(2)	5						c.(118-120)Gcc>Acc		latexin							188	175	179					3																	158390150		2203	4300	6503	SO:0001583	missense	56925					cytoplasm	metalloendopeptidase inhibitor activity|protein binding	g.chr3:158390150C>T	AF087851	CCDS3183.1	3q25.32	2004-05-10			ENSG00000079257	ENSG00000079257			13347	protein-coding gene	gene with protein product		609305					Standard	NM_020169		Approved		uc003fch.3	Q9BS40	OTTHUMG00000158807	ENST00000264265.3:c.118G>A	3.37:g.158390150C>T	ENSP00000264265:p.Ala40Thr		OREG0015899	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1793	GFM1_ENST00000486715.1_Intron|GFM1_ENST00000478576.1_Intron|GFM1_ENST00000264263.5_Intron	p.A40T	NM_020169.3	NP_064554.3	Q9BS40	LXN_HUMAN	Lung(72;0.00309)|LUSC - Lung squamous cell carcinoma(72;0.0043)		1	332	-			40					Q96PN2|Q9NQS6	Missense_Mutation	SNP	ENST00000264265.3	37	c.118G>A	CCDS3183.1	.	.	.	.	.	.	.	.	.	.	C	34	5.293259	0.95546	.	.	ENSG00000079257	ENST00000264265	T	0.59364	0.27	5.31	5.31	0.75309	.	0.055891	0.64402	D	0.000001	T	0.76870	0.4048	M	0.74258	2.255	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	T	0.78682	-0.2109	10	0.72032	D	0.01	-15.7994	18.7569	0.91836	0.0:1.0:0.0:0.0	.	40	Q9BS40	LXN_HUMAN	T	40	ENSP00000264265:A40T	ENSP00000264265:A40T	A	-	1	0	LXN	159872844	1.000000	0.71417	0.960000	0.40013	0.591000	0.36615	6.405000	0.73272	2.758000	0.94735	0.591000	0.81541	GCC		0.602	LXN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352284.1	NM_020169		23	108	0	0	0	1	0	23	108					T	158390150	C	T	158390150	3	4	435	1	0	0	0	0	1	0	0	0	9089	797	28	3	574	3	LXN	3	158390150	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	374294	158390150	39632280	2110	23035											
GFM1	85476	broad.mit.edu	37	chr3	158408054	158408054	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aattgcaggaattaaccgacGccatggggtaatcactgggc	12	8	12	9	2	1	0	1	0	0	0	1	2	1	1	2	4	2	2	2	4	4	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:158408054G>A	ENST00000486715.1	+	16	2369	c.2012G>A	c.(2011-2013)cGc>cAc	p.R671H	RP11-379F4.7_ENST00000607624.1_lincRNA|GFM1_ENST00000264263.5_Missense_Mutation_p.R690H	NM_024996.5	NP_079272.4			G elongation factor, mitochondrial 1											breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|urinary_tract(2)	22			Lung(72;0.00309)|LUSC - Lung squamous cell carcinoma(72;0.0043)			ATTAACCGACGCCATGGGGTA	0.408																																						ENST00000486715.1																			0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|urinary_tract(2)	22						c.(2011-2013)cGc>cAc		G elongation factor, mitochondrial 1							184	179	180					3																	158408054		2203	4300	6503	SO:0001583	missense	85476				mitochondrial translational elongation	mitochondrion	GTP binding|GTPase activity|translation elongation factor activity	g.chr3:158408054G>A	AF309777	CCDS33885.1	3q25	2008-02-05			ENSG00000168827	ENSG00000168827			13780	protein-coding gene	gene with protein product		606639	"G translation elongation factor, mitochondrial"			11374907, 11735030	Standard	NM_024996		Approved	EFGM, GFM, EGF1	uc003fce.3	Q96RP9	OTTHUMG00000158804	ENST00000486715.1:c.2012G>A	3.37:g.158408054G>A	ENSP00000419038:p.Arg671His					GFM1_ENST00000264263.5_Missense_Mutation_p.R690H	p.R671H	NM_024996.5	NP_079272.4	Q96RP9	EFGM_HUMAN	Lung(72;0.00309)|LUSC - Lung squamous cell carcinoma(72;0.0043)		16	2369	+			671						Missense_Mutation	SNP	ENST00000486715.1	37	c.2012G>A	CCDS33885.1	.	.	.	.	.	.	.	.	.	.	G	28.4	4.913920	0.92178	.	.	ENSG00000168827	ENST00000486715;ENST00000264263	T;T	0.71341	-0.56;-0.56	5.8	4.93	0.64822	Elongation factor G/III/V (1);Translation elongation factor EFG/EF2, C-terminal (3);	0.057811	0.64402	D	0.000001	D	0.86619	0.5976	M	0.90705	3.14	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.997;0.998	D	0.89500	0.3763	10	0.87932	D	0	-9.074	14.8285	0.70130	0.0687:0.0:0.9313:0.0	.	690;671	Q96RP9-2;Q96RP9	.;EFGM_HUMAN	H	671;690	ENSP00000419038:R671H;ENSP00000264263:R690H	ENSP00000264263:R690H	R	+	2	0	GFM1	159890748	1.000000	0.71417	0.911000	0.35937	0.940000	0.58332	9.382000	0.97209	1.456000	0.47831	0.650000	0.86243	CGC		0.408	GFM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352271.1	NM_024996		56	110	0	0	0	1	0	56	110					A	158408054	G	A	158408054	3	1	435	1	0	0	0	0	1	0	0	0	6341	1087	38	1	2074	1	GFM1	3	158408054	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	17904	158408054	39614376	2111	23036											
SCHIP1	100505385	broad.mit.edu	37	chr3	158991628	158991628	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccatggagaggtccgggcagCgtgttacaacgtgggactgt	8	8	16	9	3	0	1	0	0	0	1	1	3	1	2	2	4	3	2	2	4	2	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:158991628C>T	ENST00000337808.6	+	1	596	c.19C>T	c.(19-21)Cgt>Tgt	p.R7C	IQCJ-SCHIP1_ENST00000476809.1_Intron|IQCJ-SCHIP1_ENST00000412423.2_Missense_Mutation_p.R7C|IQCJ-SCHIP1_ENST00000485419.1_Intron|IQCJ-SCHIP1_ENST00000527095.1_Missense_Mutation_p.R7C|IQCJ-SCHIP1_ENST00000467442.1_Intron	NM_001197107.1|NM_014575.3	NP_001184036.1|NP_055390.1			IQCJ-SCHIP1 readthrough									p.R7S(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(7)	12						GTCCGGGCAGCGTGTTACAAC	0.423																																						ENST00000337808.6																			1	Substitution - Missense(1)	p.R7S(1)	lung(1)	central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(7)	12						c.(19-21)Cgt>Tgt									116	111	113					3																	158991628		2203	4300	6503	SO:0001583	missense	0					cytoplasm	identical protein binding|protein binding	g.chr3:158991628C>T		CCDS56289.1, CCDS56291.1	3q25.33	2011-03-24			ENSG00000250588	ENSG00000250588			38842	other	readthrough							Standard	NM_001197113		Approved		uc003fcq.2		OTTHUMG00000162426	ENST00000337808.6:c.19C>T	3.37:g.158991628C>T	ENSP00000337239:p.Arg7Cys					IQCJ-SCHIP1_ENST00000485419.1_Intron|IQCJ-SCHIP1_ENST00000412423.2_Missense_Mutation_p.R7C|IQCJ-SCHIP1_ENST00000476809.1_Intron|IQCJ-SCHIP1_ENST00000467442.1_Intron|IQCJ-SCHIP1_ENST00000527095.1_Missense_Mutation_p.R7C	p.R7C	NM_001197107.1|NM_014575.3	NP_001184036.1|NP_055390.1	Q9P0W5	SCHI1_HUMAN			1	596	+			7						Missense_Mutation	SNP	ENST00000337808.6	37	c.19C>T	CCDS3186.1	.	.	.	.	.	.	.	.	.	.	C	5.573	0.290594	0.10567	.	.	ENSG00000250588	ENST00000337808;ENST00000412423;ENST00000527095	T;T;T	0.56275	1.23;1.16;0.47	5.34	2.38	0.29361	.	1.754790	0.03460	N	0.212046	T	0.40862	0.1134	.	.	.	0.52501	D	0.999953	P;P	0.52577	0.954;0.923	B;B	0.36959	0.237;0.12	T	0.49041	-0.8980	9	0.66056	D	0.02	.	3.7585	0.08595	0.1705:0.575:0.1648:0.0896	.	7;7	Q9P0W5-2;Q9P0W5	.;SCHI1_HUMAN	C	7	ENSP00000337239:R7C;ENSP00000400942:R7C;ENSP00000436076:R7C	ENSP00000337239:R7C	R	+	1	0	IQCJ-SCHIP1	160474322	0.051000	0.20477	0.274000	0.24659	0.260000	0.26232	0.101000	0.15251	0.726000	0.32339	0.650000	0.86243	CGT		0.423	IQCJ-SCHIP1-008	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000352557.1	NM_001197113		6	7	0	0	0	1	0	6	7					T	158991628	C	T	158991628	3	4	435	1	0	0	0	0	1	0	0	0	13904	768	27	1	21	1	SCHIP1	3	158991628	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	583574	158991628	39030802	2112	23037											
PPM1L	151742	broad.mit.edu	37	chr3	160783259	160783259	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccaacgtgggtgactcgcgcGgggtcctgtgtgacaaagat	8	8	15	10	4	0	3	0	2	0	1	2	3	1	3	2	3	1	0	2	3	2	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:160783259G>A	ENST00000498165.1	+	3	744	c.643G>A	c.(643-645)Ggg>Agg	p.G215R	PPM1L_ENST00000464260.1_Missense_Mutation_p.G36R|PPM1L_ENST00000295839.9_Missense_Mutation_p.G88R|PPM1L_ENST00000480117.1_3'UTR	NM_139245.2	NP_640338.2	Q5SGD2	PPM1L_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1L	215	PP2C-like.				MAPK cascade (GO:0000165)|protein dephosphorylation (GO:0006470)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)			breast(1)|endometrium(1)|large_intestine(4)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	13			Lung(72;0.00149)|LUSC - Lung squamous cell carcinoma(72;0.00216)			TGACTCGCGCGGGGTCCTGTG	0.488																																					Pancreas(86;250 1994 13715 43211)	ENST00000498165.1																			0				breast(1)|endometrium(1)|large_intestine(4)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	13						c.(643-645)Ggg>Agg		protein phosphatase, Mg2+/Mn2+ dependent, 1L							111	109	110					3																	160783259		2203	4300	6503	SO:0001583	missense	151742				protein dephosphorylation|sphingolipid metabolic process	endoplasmic reticulum membrane|integral to membrane|protein serine/threonine phosphatase complex	metal ion binding|protein serine/threonine phosphatase activity	g.chr3:160783259G>A	AK055115	CCDS33886.1	3q26.1	2012-04-17	2010-03-05		ENSG00000163590	ENSG00000163590	3.1.3.16	"Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"	16381	protein-coding gene	gene with protein product	"PP2Cepsilon", "Protein phosphatase 2C epsilon isoform"	611931	"protein phosphatase 1 (formerly 2C)-like"			12556533	Standard	XM_006713507		Approved	PP2CE	uc003fdr.3	Q5SGD2	OTTHUMG00000159048	ENST00000498165.1:c.643G>A	3.37:g.160783259G>A	ENSP00000417659:p.Gly215Arg					PPM1L_ENST00000480117.1_3'UTR|PPM1L_ENST00000464260.1_Missense_Mutation_p.G36R|PPM1L_ENST00000295839.9_Missense_Mutation_p.G88R	p.G215R	NM_139245.2	NP_640338.2	Q5SGD2	PPM1L_HUMAN	Lung(72;0.00149)|LUSC - Lung squamous cell carcinoma(72;0.00216)		3	744	+			215			PP2C-like.		Q2M3J2|Q96NM7	Missense_Mutation	SNP	ENST00000498165.1	37	c.643G>A	CCDS33886.1	.	.	.	.	.	.	.	.	.	.	G	19.46	3.831346	0.71258	.	.	ENSG00000163590	ENST00000498165;ENST00000464260;ENST00000295839	T;T;T	0.17691	2.26;2.26;2.26	5.12	5.12	0.69794	Protein phosphatase 2C-like (5);	0.000000	0.85682	D	0.000000	T	0.48040	0.1478	M	0.86178	2.8	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.80764	0.979;0.994	T	0.53961	-0.8364	10	0.87932	D	0	.	17.7238	0.88359	0.0:0.0:1.0:0.0	.	88;215	Q5SGD2-3;Q5SGD2	.;PPM1L_HUMAN	R	215;36;88	ENSP00000417659:G215R;ENSP00000420746:G36R;ENSP00000295839:G88R	ENSP00000295839:G88R	G	+	1	0	PPM1L	162265953	1.000000	0.71417	0.830000	0.32933	0.231000	0.25187	9.235000	0.95353	2.681000	0.91329	0.561000	0.74099	GGG		0.488	PPM1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353019.1	NM_139245		36	48	0	0	0	1	0	36	48					A	160783259	G	A	160783259	3	1	435	1	0	0	0	0	1	0	0	0	12344	1116	39	2	653	2	PPM1L	3	160783259	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	1791631	160783259	37239171	2113	23038											
SI	6476	broad.mit.edu	37	chr3	164777791	164777791	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gaatccaagattccaatatgCtggcattgctggtagtccaa	12	11	9	9	0	0	1	0	0	0	1	3	2	3	1	3	2	2	4	3	2	6	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:164777791C>A	ENST00000264382.3	-	10	1107	c.1045G>T	c.(1045-1047)Gca>Tca	p.A349S		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	349	Isomaltase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	brush border (GO:0005903)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|oligo-1,6-glucosidase activity (GO:0004574)|sucrose alpha-glucosidase activity (GO:0004575)	p.A349T(1)		NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)|Scopolamine(DB00747)	TTCCAATATGCTGGCATTGCT	0.363										HNSCC(35;0.089)																												ENST00000264382.3																			1	Substitution - Missense(1)	p.A349T(1)	lung(1)	NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218						c.(1045-1047)Gca>Tca		sucrase-isomaltase (alpha-glucosidase)	Acarbose(DB00284)						99	106	104					3																	164777791		2203	4300	6503	SO:0001583	missense	6476				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity	g.chr3:164777791C>A	X63597	CCDS3196.1	3q25.2-q26.2	2004-04-06	2004-04-06		ENSG00000090402	ENSG00000090402	3.2.1.10		10856	protein-coding gene	gene with protein product	"Oligosaccharide alpha-1,6-glucosidase"	609845	"sucrase-isomaltase"			2962903, 1353958	Standard	NM_001041		Approved		uc003fei.3	P14410	OTTHUMG00000158065	ENST00000264382.3:c.1045G>T	3.37:g.164777791C>A	ENSP00000264382:p.Ala349Ser	HNSCC(35;0.089)					p.A349S	NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN			10	1107	-		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)	349			Isomaltase.		A2RUC3|Q1JQ80|Q1RMC2	Missense_Mutation	SNP	ENST00000264382.3	37	c.1045G>T	CCDS3196.1	.	.	.	.	.	.	.	.	.	.	C	9.652	1.141798	0.21205	.	.	ENSG00000090402	ENST00000264382	D	0.91237	-2.81	5.49	1.03	0.20045	Glycoside hydrolase, superfamily (1);	0.269516	0.42821	N	0.000660	T	0.80869	0.4706	N	0.10837	0.055	0.31031	N	0.717439	B	0.06786	0.001	B	0.17098	0.017	T	0.66642	-0.5872	10	0.19590	T	0.45	.	17.3923	0.87435	0.6766:0.3234:0.0:0.0	.	349	P14410	SUIS_HUMAN	S	349	ENSP00000264382:A349S	ENSP00000264382:A349S	A	-	1	0	SI	166260485	0.019000	0.18553	0.971000	0.41717	0.953000	0.61014	0.134000	0.15932	0.141000	0.18875	0.484000	0.47621	GCA		0.363	SI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350116.1	NM_001041		65	103	1	0	6.20203e-27	1	6.93455e-27	65	103					A	164777791	C	A	164777791	3	1	435	1	0	0	0	0	1	0	0	0	14297	797	28	5	4594	5	SI	3	164777791	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	3994532	164777791	33244639	2114	23039											
SLITRK3	22865	broad.mit.edu	37	chr3	164906130	164906130	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gatggtgattcaccgtcactAtggtgttaagctgggagctg	8	12	14	7	1	2	1	2	1	0	0	2	3	2	2	1	3	2	3	1	3	2	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:164906130A>G	ENST00000475390.1	-	2	2932	c.2489T>C	c.(2488-2490)aTa>aCa	p.I830T	SLITRK3_ENST00000241274.3_Missense_Mutation_p.I830T			O94933	SLIK3_HUMAN	SLIT and NTRK-like family, member 3	830					axonogenesis (GO:0007409)	integral component of membrane (GO:0016021)				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						CACCGTCACTATGGTGTTAAG	0.552										HNSCC(40;0.11)																												ENST00000475390.1																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						c.(2488-2490)aTa>aCa		SLIT and NTRK-like family, member 3							108	107	107					3																	164906130		2203	4300	6503	SO:0001583	missense	22865					integral to membrane		g.chr3:164906130A>G	AB020655	CCDS3197.1	3q26.1	2004-07-28			ENSG00000121871	ENSG00000121871			23501	protein-coding gene	gene with protein product		609679				10048485, 14557068	Standard	NM_014926		Approved	KIAA0848	uc003fek.3	O94933	OTTHUMG00000158072	ENST00000475390.1:c.2489T>C	3.37:g.164906130A>G	ENSP00000420091:p.Ile830Thr	HNSCC(40;0.11)				SLITRK3_ENST00000241274.3_Missense_Mutation_p.I830T	p.I830T			O94933	SLIK3_HUMAN			2	2932	-			830					Q1RMY6	Missense_Mutation	SNP	ENST00000475390.1	37	c.2489T>C	CCDS3197.1	.	.	.	.	.	.	.	.	.	.	A	12.95	2.092082	0.36952	.	.	ENSG00000121871	ENST00000475390;ENST00000241274	T;T	0.61392	0.11;0.11	5.33	5.33	0.75918	.	0.000000	0.41500	D	0.000863	T	0.63165	0.2488	L	0.27053	0.805	0.54753	D	0.999982	D	0.57899	0.981	D	0.67231	0.95	T	0.64457	-0.6403	10	0.46703	T	0.11	-12.603	14.4161	0.67151	1.0:0.0:0.0:0.0	.	830	O94933	SLIK3_HUMAN	T	830	ENSP00000420091:I830T;ENSP00000241274:I830T	ENSP00000241274:I830T	I	-	2	0	SLITRK3	166388824	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	5.462000	0.66707	2.241000	0.73720	0.533000	0.62120	ATA		0.552	SLITRK3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350126.1	NM_014926		18	39	0	0	0	1	0	18	39					G	164906130	A	G	164906130	3	3	435	1	0	0	0	0	1	0	0	0	14744	449	16	4	448	4	SLITRK3	3	164906130	Missense_Mutation	SNP	A	TCGA-XK-AAIW-01A-11D-A41K-08	128339	164906130	33116300	2115	23040											
SLITRK3	22865	broad.mit.edu	37	chr3	164906504	164906504	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ccatcctcaaacagcctgtgGcattgcatttggatgccagt	9	11	9	12	0	1	0	1	0	0	0	2	1	2	1	4	2	4	2	4	2	1	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:164906504G>A	ENST00000475390.1	-	2	2558	c.2115C>T	c.(2113-2115)tgC>tgT	p.C705C	SLITRK3_ENST00000241274.3_Silent_p.C705C			O94933	SLIK3_HUMAN	SLIT and NTRK-like family, member 3	705					axonogenesis (GO:0007409)	integral component of membrane (GO:0016021)				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						ACAGCCTGTGGCATTGCATTT	0.592										HNSCC(40;0.11)																												ENST00000475390.1																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						c.(2113-2115)tgC>tgT		SLIT and NTRK-like family, member 3							95	71	79					3																	164906504		2203	4300	6503	SO:0001819	synonymous_variant	22865					integral to membrane		g.chr3:164906504G>A	AB020655	CCDS3197.1	3q26.1	2004-07-28			ENSG00000121871	ENSG00000121871			23501	protein-coding gene	gene with protein product		609679				10048485, 14557068	Standard	NM_014926		Approved	KIAA0848	uc003fek.3	O94933	OTTHUMG00000158072	ENST00000475390.1:c.2115C>T	3.37:g.164906504G>A		HNSCC(40;0.11)				SLITRK3_ENST00000241274.3_Silent_p.C705C	p.C705C			O94933	SLIK3_HUMAN			2	2558	-			705					Q1RMY6	Silent	SNP	ENST00000475390.1	37	c.2115C>T	CCDS3197.1																																																																																				0.592	SLITRK3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350126.1	NM_014926		20	42	0	0	0	1	0	20	42					A	164906504	G	A	164906504	2	1	435	1	0	0	0	0	0	0	0	1	14744	1195	42	3		3	SLITRK3	3	164906504	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	374	164906504	33115926	2116	23041											
BCHE	590	broad.mit.edu	37	chr3	165548402	165548402	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tgaaaaccaccaccataaatCcatatcaatacagtggcatt	17	9	4	11	0	1	1	1	1	0	0	2	1	2	1	4	1	2	1	4	1	7	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:165548402C>T	ENST00000264381.3	-	2	586	c.420G>A	c.(418-420)tgG>tgA	p.W140*	BCHE_ENST00000540653.1_Intron	NM_000055.2	NP_000046.1	P06276	CHLE_HUMAN	butyrylcholinesterase	140					cellular protein metabolic process (GO:0044267)|choline metabolic process (GO:0019695)|cocaine metabolic process (GO:0050783)|learning (GO:0007612)|negative regulation of cell proliferation (GO:0008285)|negative regulation of synaptic transmission (GO:0050805)|neuroblast differentiation (GO:0014016)|response to alkaloid (GO:0043279)|response to drug (GO:0042493)|response to folic acid (GO:0051593)|response to glucocorticoid (GO:0051384)|synaptic transmission, cholinergic (GO:0007271)	blood microparticle (GO:0072562)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|nuclear envelope lumen (GO:0005641)	acetylcholinesterase activity (GO:0003990)|beta-amyloid binding (GO:0001540)|catalytic activity (GO:0003824)|choline binding (GO:0033265)|cholinesterase activity (GO:0004104)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)			breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(34)|ovary(4)|pancreas(2)|stomach(1)	55					Aclidinium(DB08897)|Ambenonium(DB01122)|Bambuterol(DB01408)|Chloroprocaine(DB01161)|Chlorphenesin(DB00856)|Chlorpromazine(DB00477)|Choline(DB00122)|Cinchocaine(DB00527)|Cisplatin(DB00515)|Clevidipine(DB04920)|Cyclopentolate(DB00979)|Decamethonium(DB01245)|Demecarium(DB00944)|Diethylcarbamazine(DB00711)|Dipivefrin(DB00449)|Doxacurium chloride(DB01135)|Drospirenone(DB01395)|Echothiophate(DB01057)|Edrophonium(DB01010)|Ephedrine(DB01364)|Ethopropazine(DB00392)|Galantamine(DB00674)|Hexafluronium(DB00941)|Irinotecan(DB00762)|Isoflurophate(DB00677)|Malathion(DB00772)|Mefloquine(DB00358)|Mirabegron(DB08893)|Mivacurium(DB01226)|Neostigmine(DB01400)|Nizatidine(DB00585)|Oxybuprocaine(DB00892)|Pancuronium(DB01337)|Pegvisomant(DB00082)|Pentagastrin(DB00183)|Perindopril(DB00790)|Pipecuronium(DB01338)|Pralidoxime(DB00733)|Procainamide(DB01035)|Procaine(DB00721)|Pyridostigmine(DB00545)|Ramipril(DB00178)|Rivastigmine(DB00989)|Succinylcholine(DB00202)|Sulpiride(DB00391)|Terbutaline(DB00871)|Triamcinolone(DB00620)|Triflupromazine(DB00508)|Trimethaphan(DB01116)	CACCATAAATCCATATCAATA	0.383																																						ENST00000264381.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(34)|ovary(4)|pancreas(2)|stomach(1)	55						c.(418-420)tgG>tgA		butyrylcholinesterase	Ambenonium(DB01122)|Atropine(DB00572)|Bambuterol(DB01408)|Chlorpromazine(DB00477)|Choline(DB00122)|Cinnarizine(DB00568)|Demecarium bromide(DB00944)|Dibucaine(DB00527)|Donepezil(DB00843)|Echothiophate Iodide(DB01057)|Edrophonium(DB01010)|Ethopropazine(DB00392)|Etomidate(DB00292)|Galantamine(DB00674)|Hexafluronium bromide(DB00941)|Isoflurophate(DB00677)|Mefloquine(DB00358)|Mivacurium(DB01226)|Neostigmine(DB01400)|Pancuronium(DB01337)|Pralidoxime(DB00733)|Procainamide(DB01035)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Succinylcholine(DB00202)|Terbutaline(DB00871)|Trimethaphan(DB01116)						59	62	61					3																	165548402		2203	4300	6503	SO:0001587	stop_gained	590				choline metabolic process|cocaine metabolic process|synaptic transmission, cholinergic	endoplasmic reticulum lumen|extracellular space|membrane	acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|enzyme binding	g.chr3:165548402C>T	M16541	CCDS3198.1	3q26.1-q26.2	2013-07-10			ENSG00000114200	ENSG00000114200	3.1.1.8		983	protein-coding gene	gene with protein product		177400	"cholinesterase 1", "cholinesterase (serum) 2"	CHE1, CHE2		1769657, 2318303	Standard	NM_000055		Approved	E1	uc003fem.4	P06276	OTTHUMG00000158131	ENST00000264381.3:c.420G>A	3.37:g.165548402C>T	ENSP00000264381:p.Trp140*					BCHE_ENST00000540653.1_Intron	p.W140*	NM_000055.2	NP_000046.1	P06276	CHLE_HUMAN			2	586	-			140					A8K7P8	Nonsense_Mutation	SNP	ENST00000264381.3	37	c.420G>A	CCDS3198.1	.	.	.	.	.	.	.	.	.	.	C	37	6.137692	0.97315	.	.	ENSG00000114200	ENST00000264381	.	.	.	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.109	0.93309	0.0:1.0:0.0:0.0	.	.	.	.	X	140	.	ENSP00000264381:W140X	W	-	3	0	BCHE	167031096	1.000000	0.71417	1.000000	0.80357	0.801000	0.45260	5.866000	0.69590	2.758000	0.94735	0.655000	0.94253	TGG		0.383	BCHE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350254.1			24	48	0	0	0	1	0	24	48					T	165548402	C	T	165548402	4	4	435	1	0	0	0	0	0	1	0	0	1358	856	30	3	1400	3	BCHE	3	165548402	Nonsense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	641898	165548402	32474028	2117	23042											
WDR49	151790	broad.mit.edu	37	chr3	167293928	167293928	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agctggtgttgaatatcccaGagtctcaaaacctggatgaa	13	10	10	8	0	1	3	1	2	1	1	3	4	2	4	2	2	2	2	2	2	5	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:167293928G>T	ENST00000308378.3	-	4	569	c.264C>A	c.(262-264)ctC>ctA	p.L88L	WDR49_ENST00000453925.2_Silent_p.L141L|WDR49_ENST00000476376.1_5'Flank|WDR49_ENST00000479765.1_Silent_p.L429L	NM_178824.3	NP_849146.1	Q8IV35	WDR49_HUMAN	WD repeat domain 49	88										breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	50						GAATATCCCAGAGTCTCAAAA	0.388																																						ENST00000308378.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	50						c.(262-264)ctC>ctA		WD repeat domain 49							61	58	59					3																	167293928		2203	4300	6503	SO:0001819	synonymous_variant	151790							g.chr3:167293928G>T	AK097556	CCDS3201.1	3q26.1	2013-01-11			ENSG00000174776	ENSG00000174776		"WD repeat domain containing"	26587	protein-coding gene	gene with protein product						12477932	Standard	NM_178824		Approved	FLJ33620	uc003fev.1	Q8IV35	OTTHUMG00000158290	ENST00000308378.3:c.264C>A	3.37:g.167293928G>T						WDR49_ENST00000479765.1_Silent_p.L429L|WDR49_ENST00000453925.2_Silent_p.L141L	p.L88L	NM_178824.3	NP_849146.1	Q8IV35	WDR49_HUMAN			4	569	-			88					Q8N297	Silent	SNP	ENST00000308378.3	37	c.264C>A	CCDS3201.1	.	.	.	.	.	.	.	.	.	.	G	6.982	0.551242	0.13374	.	.	ENSG00000174776	ENST00000472600	.	.	.	5.76	4.89	0.63831	.	.	.	.	.	T	0.64316	0.2587	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.63120	-0.6708	4	.	.	.	.	12.858	0.57897	0.0757:0.0:0.9243:0.0	.	.	.	.	Y	153	.	.	S	-	2	0	WDR49	168776622	1.000000	0.71417	1.000000	0.80357	0.882000	0.50991	1.848000	0.39309	1.472000	0.48140	0.650000	0.86243	TCT		0.388	WDR49-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000350592.3	NM_178824		9	16	1	0	2.17888e-05	1	2.24846e-05	9	16					T	167293928	G	T	167293928	2	4	435	1	0	0	0	0	0	0	0	1	17299	929	33	5		5	WDR49	3	167293928	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	1745526	167293928	30728502	2118	23043											
SERPINI1	5274	broad.mit.edu	37	chr3	167508391	167508391	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggtggagaataacacaaacaGtatgtcacttggttcctttc	12	12	9	8	0	1	1	1	0	0	1	3	2	2	1	1	3	2	2	1	3	4	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:167508391G>A	ENST00000295777.5	+	3	912		c.e3+1		SERPINI1_ENST00000446050.2_Splice_Site	NM_005025.4	NP_005016.1	Q99574	NEUS_HUMAN	serpin peptidase inhibitor, clade I (neuroserpin), member 1						cell death (GO:0008219)|central nervous system development (GO:0007417)|negative regulation of endopeptidase activity (GO:0010951)|peripheral nervous system development (GO:0007422)|regulation of cell adhesion (GO:0030155)|regulation of proteolysis (GO:0030162)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase inhibitor activity (GO:0004867)			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(7)|skin(2)	20						AACACAAACAGTATGTCACTT	0.353																																						ENST00000295777.5																			0				NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(7)|skin(2)	20						c.e3+1		serpin peptidase inhibitor, clade I (neuroserpin), member 1							116	115	116					3																	167508391		2203	4300	6503	SO:0001630	splice_region_variant	5274				central nervous system development|peripheral nervous system development|regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity	g.chr3:167508391G>A	Z81326	CCDS3203.1	3q26.1	2014-02-18	2005-08-18		ENSG00000163536	ENSG00000163536		"Serine (or cysteine) peptidase inhibitors"	8943	protein-coding gene	gene with protein product		602445	"serine (or cysteine) proteinase inhibitor, clade I (neuroserpin), member 1"	PI12		24172014	Standard	NM_005025		Approved	neuroserpin	uc003ffa.4	Q99574	OTTHUMG00000158450	ENST00000295777.5:c.481+1G>A	3.37:g.167508391G>A						SERPINI1_ENST00000446050.2_Splice_Site		NM_005025.4	NP_005016.1	Q99574	NEUS_HUMAN			3	912	+								A8K217|D3DNP1|Q6AHZ4	Splice_Site	SNP	ENST00000295777.5	37		CCDS3203.1	.	.	.	.	.	.	.	.	.	.	G	14.58	2.576749	0.45902	.	.	ENSG00000163536	ENST00000446050;ENST00000295777;ENST00000472747	.	.	.	5.51	5.51	0.81932	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.4144	0.94689	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SERPINI1	168991085	1.000000	0.71417	0.999000	0.59377	0.210000	0.24377	9.476000	0.97823	2.586000	0.87340	0.557000	0.71058	.		0.353	SERPINI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351056.1		Intron	11	13	0	0	0	1	0	11	13					A	167508391	G	A	167508391	5	1	435	1	0	0	0	0	0	0	1	0	14118	1043	36	3	488	3	SERPINI1	3	167508391	Splice_Site	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	214463	167508391	30514039	2119	23044											
GOLIM4	27333	broad.mit.edu	37	chr3	167745559	167745559	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttctcggggtccttgttcaCgaggctcatgtctattacct	5	15	9	12	2	4	0	2	0	2	0	6	1	5	0	2	3	1	2	2	3	2	5	rs534465111		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:167745559C>T	ENST00000470487.1	-	12	2269	c.1580G>A	c.(1579-1581)cGt>cAt	p.R527H	GOLIM4_ENST00000309027.4_Missense_Mutation_p.R499H	NM_014498.3	NP_055313.1	O00461	GOLI4_HUMAN	golgi integral membrane protein 4	527	Glu-rich.				transport (GO:0006810)	cis-Golgi network (GO:0005801)|endocytic vesicle (GO:0030139)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(5)|endometrium(2)|large_intestine(8)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						TCCTTGTTCACGAGGCTCATG	0.468													C|||	1	0.000199681	0	0	5008	,	,		16435	0.001		0	False		,,,				2504	0					ENST00000470487.1																			0				breast(5)|endometrium(2)|large_intestine(8)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						c.(1579-1581)cGt>cAt		golgi integral membrane protein 4							244	244	244					3																	167745559		2203	4300	6503	SO:0001583	missense	27333				transport	cis-Golgi network|endocytic vesicle|endosome membrane|Golgi cisterna membrane|Golgi lumen|integral to membrane|nucleus		g.chr3:167745559C>T	U55853	CCDS3204.1	3q26	2007-07-30	2007-07-30	2007-07-30	ENSG00000173905	ENSG00000173905			15448	protein-coding gene	gene with protein product		606805	"golgi phosphoprotein 4"	GOLPH4		9201717, 15004235	Standard	NM_014498		Approved	GPP130, GIMPC, P138	uc003ffe.2	O00461	OTTHUMG00000158554	ENST00000470487.1:c.1580G>A	3.37:g.167745559C>T	ENSP00000417354:p.Arg527His					GOLIM4_ENST00000309027.4_Missense_Mutation_p.R499H	p.R527H	NM_014498.3	NP_055313.1	O00461	GOLI4_HUMAN			12	2269	-			527			Glu-rich.			Missense_Mutation	SNP	ENST00000470487.1	37	c.1580G>A	CCDS3204.1	.	.	.	.	.	.	.	.	.	.	C	14.91	2.677791	0.47886	.	.	ENSG00000173905	ENST00000470487;ENST00000309027	.	.	.	5.31	-10.6	0.00265	.	2.098630	0.01520	N	0.018303	T	0.32346	0.0826	L	0.36672	1.1	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.06405	0.001;0.002	T	0.21655	-1.0239	9	0.40728	T	0.16	2.6529	8.5516	0.33455	0.0897:0.5379:0.0913:0.2811	.	499;527	F8W785;O00461	.;GOLI4_HUMAN	H	527;499	.	ENSP00000309893:R499H	R	-	2	0	GOLIM4	169228253	0.000000	0.05858	0.000000	0.03702	0.846000	0.48090	-0.891000	0.04135	-1.088000	0.03077	-0.696000	0.03686	CGT		0.468	GOLIM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351278.2			4	127	0	0	0	1	0	4	127					T	167745559	C	T	167745559	3	4	435	1	0	0	0	0	1	0	0	0	6566	536	19	1	530	1	GOLIM4	3	167745559	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	237168	167745559	30276871	2120	23045											
MECOM	2122	broad.mit.edu	37	chr3	168819908	168819908	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggcagggcattgggaggcGccctgaagttgaacatagag	10	7	16	8	1	0	3	0	2	0	1	0	4	0	4	1	4	1	3	1	4	3	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:168819908G>A	ENST00000464456.1	-	9	3320	c.2120C>T	c.(2119-2121)gCg>gTg	p.A707V	MECOM_ENST00000494292.1_Missense_Mutation_p.A895V|MECOM_ENST00000472280.1_Missense_Mutation_p.A717V|MECOM_ENST00000460814.1_Missense_Mutation_p.A707V|MECOM_ENST00000264674.3_Missense_Mutation_p.A781V|MECOM_ENST00000468789.1_Missense_Mutation_p.A716V|MECOM_ENST00000433243.2_Missense_Mutation_p.A717V|MECOM_ENST00000392736.3_Missense_Mutation_p.A716V	NM_001164000.1	NP_001157472.1	Q13465	MDS1_HUMAN	MDS1 and EVI1 complex locus	0					regulation of transcription, DNA-templated (GO:0006355)		sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						ATTGGGAGGCGCCCTGAAGTT	0.502																																						ENST00000464456.1																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						c.(2119-2121)gCg>gTg		MDS1 and EVI1 complex locus							76	71	73					3																	168819908		2203	4300	6503	SO:0001583	missense	2122						sequence-specific DNA binding transcription factor activity	g.chr3:168819908G>A	S82592, AF164154	CCDS3205.1, CCDS54669.1, CCDS54670.1	3q26.2	2013-01-08	2009-08-07	2009-08-07	ENSG00000085276	ENSG00000085276		"Zinc fingers, C2H2-type"	3498	protein-coding gene	gene with protein product		165215	"myelodysplasia syndrome 1", "ecotropic viral integration site 1"	MDS1, EVI1		2115646, 8171026, 8643684	Standard	NM_001105077		Approved	MDS1-EVI1, PRDM3	uc011bpj.1	Q03112	OTTHUMG00000158596	ENST00000464456.1:c.2120C>T	3.37:g.168819908G>A	ENSP00000419770:p.Ala707Val					MECOM_ENST00000433243.2_Missense_Mutation_p.A717V|MECOM_ENST00000472280.1_Missense_Mutation_p.A717V|MECOM_ENST00000392736.3_Missense_Mutation_p.A716V|MECOM_ENST00000468789.1_Missense_Mutation_p.A716V|MECOM_ENST00000264674.3_Missense_Mutation_p.A781V|MECOM_ENST00000460814.1_Missense_Mutation_p.A707V|MECOM_ENST00000494292.1_Missense_Mutation_p.A895V	p.A707V	NM_001164000.1	NP_001157472.1	Q13465	MDS1_HUMAN			9	3320	-			0					Q13466|Q6FH90	Missense_Mutation	SNP	ENST00000464456.1	37	c.2120C>T	CCDS54669.1	.	.	.	.	.	.	.	.	.	.	G	11.26	1.585570	0.28268	.	.	ENSG00000085276	ENST00000264674;ENST00000392736;ENST00000464456;ENST00000472280;ENST00000494292;ENST00000468789;ENST00000460814;ENST00000433243	T;T;T;T;T;T;T;T	0.06218	3.41;3.41;3.34;3.5;3.33;3.41;3.33;3.5	5.45	5.45	0.79879	.	0.284356	0.30235	N	0.010099	T	0.06416	0.0165	N	0.19112	0.55	0.42985	D	0.994471	B;B;B;B;B	0.22346	0.009;0.068;0.005;0.009;0.005	B;B;B;B;B	0.14578	0.011;0.008;0.005;0.006;0.004	T	0.42766	-0.9432	10	0.39692	T	0.17	-11.5182	19.688	0.95987	0.0:0.0:1.0:0.0	.	904;708;895;781;716	Q03112-3;Q03112-6;E7EQ57;Q03112-4;Q03112	.;.;.;.;EVI1_HUMAN	V	781;716;707;717;895;716;707;717	ENSP00000264674:A781V;ENSP00000376493:A716V;ENSP00000419770:A707V;ENSP00000420048:A717V;ENSP00000417899:A895V;ENSP00000419995:A716V;ENSP00000420466:A707V;ENSP00000394302:A717V	ENSP00000264674:A781V	A	-	2	0	MECOM	170302602	1.000000	0.71417	0.966000	0.40874	0.066000	0.16364	7.457000	0.80775	2.730000	0.93505	0.655000	0.94253	GCG		0.502	MECOM-020	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000351519.1	NM_005241, NM_004991		17	24	0	0	0	1	0	17	24					A	168819908	G	A	168819908	3	1	435	1	0	0	0	0	1	0	0	0	9422	1087	38	1	1036	1	MECOM	3	168819908	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	1074349	168819908	29202522	2121	23046											
SAMD7	344658	broad.mit.edu	37	chr3	169656274	169656274	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	taattcctaaaggaattgagCgaggtagtatgagaaactaa	17	10	10	4	1	0	2	0	2	0	1	1	5	1	3	1	2	2	2	1	2	8	7	rs200235684		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:169656274C>T	ENST00000428432.2	+	9	1710	c.1321C>T	c.(1321-1323)Cga>Tga	p.R441*	RP11-379K17.4_ENST00000487580.1_RNA|SAMD7_ENST00000335556.3_Nonsense_Mutation_p.R441*	NM_182610.2	NP_872416.1	Q7Z3H4	SAMD7_HUMAN	sterile alpha motif domain containing 7	441										NS(1)|biliary_tract(1)|breast(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	31	all_cancers(22;1.55e-22)|all_epithelial(15;2.41e-27)|all_lung(20;3.52e-17)|Lung NSC(18;1.44e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0106)			AGGAATTGAGCGAGGTAGTAT	0.413																																						ENST00000428432.2																			0				NS(1)|biliary_tract(1)|breast(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	31						c.(1321-1323)Cga>Tga		sterile alpha motif domain containing 7							48	46	47					3																	169656274		2203	4300	6503	SO:0001587	stop_gained	344658							g.chr3:169656274C>T	BX537903	CCDS3209.1	3q26.31	2013-01-10			ENSG00000187033	ENSG00000187033		"Sterile alpha motif (SAM) domain containing"	25394	protein-coding gene	gene with protein product							Standard	NM_182610		Approved	DKFZp686E1583	uc003fgd.3	Q7Z3H4	OTTHUMG00000158730	ENST00000428432.2:c.1321C>T	3.37:g.169656274C>T	ENSP00000391299:p.Arg441*					SAMD7_ENST00000335556.3_Nonsense_Mutation_p.R441*	p.R441*	NM_182610.2	NP_872416.1	Q7Z3H4	SAMD7_HUMAN	Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0106)		9	1710	+	all_cancers(22;1.55e-22)|all_epithelial(15;2.41e-27)|all_lung(20;3.52e-17)|Lung NSC(18;1.44e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		441						Nonsense_Mutation	SNP	ENST00000428432.2	37	c.1321C>T	CCDS3209.1	.	.	.	.	.	.	.	.	.	.	C	26.4	4.730397	0.89390	.	.	ENSG00000187033	ENST00000428432;ENST00000335556	.	.	.	4.03	0.971	0.19698	.	1.222600	0.06130	N	0.670482	.	.	.	.	.	.	0.23966	N	0.996326	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	0.2745	4.3153	0.10990	0.1591:0.598:0.1541:0.0888	.	.	.	.	X	441	.	ENSP00000334668:R441X	R	+	1	2	SAMD7	171138968	0.600000	0.26899	0.010000	0.14722	0.060000	0.15804	0.954000	0.29175	0.058000	0.16222	0.491000	0.48974	CGA		0.413	SAMD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351959.1	NM_182610		15	24	0	0	0	1	0	15	24					T	169656274	C	T	169656274	4	4	435	1	0	0	0	0	0	1	0	0	13824	760	27	1	1347	1	SAMD7	3	169656274	Nonsense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	836366	169656274	28366156	2122	23047											
PHC3	80012	broad.mit.edu	37	chr3	169889192	169889192	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acatacttgactgctgtgtgAcacttcctgtgggagatgta	9	13	11	8	0	0	3	0	2	0	1	1	4	1	3	1	1	2	2	1	1	2	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:169889192A>G	ENST00000494943.1	-	4	415	c.347T>C	c.(346-348)gTc>gCc	p.V116A	PHC3_ENST00000495893.2_Missense_Mutation_p.V128A|PHC3_ENST00000481639.1_Missense_Mutation_p.V124A|PHC3_ENST00000474275.1_Missense_Mutation_p.V112A|PHC3_ENST00000497658.1_Missense_Mutation_p.V128A|PHC3_ENST00000467570.1_Missense_Mutation_p.V128A			Q8NDX5	PHC3_HUMAN	polyhomeotic homolog 3 (Drosophila)	116	Ser-rich.				multicellular organismal development (GO:0007275)	actin cytoskeleton (GO:0015629)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(1)|upper_aerodigestive_tract(2)	26	all_cancers(22;2.67e-22)|all_epithelial(15;4.73e-27)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0655)			CTGCTGTGTGACACTTCCTGT	0.343																																						ENST00000494943.1																			0				breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(1)|upper_aerodigestive_tract(2)	26						c.(346-348)gTc>gCc		polyhomeotic homolog 3 (Drosophila)							60	58	59					3																	169889192		1858	4101	5959	SO:0001583	missense	80012				multicellular organismal development	PcG protein complex	DNA binding|zinc ion binding	g.chr3:169889192A>G		CCDS46952.1	3q26.32	2014-01-28	2006-09-12		ENSG00000173889	ENSG00000173889		"Sterile alpha motif (SAM) domain containing"	15682	protein-coding gene	gene with protein product	"early development regulator 3", "polyhomeotic like 3"		"polyhomeotic like 3 (Drosophila)"			12167701, 12384788	Standard	NM_024947		Approved	EDR3, FLJ12967, FLJ12729, HPH3	uc003fgl.2	Q8NDX5	OTTHUMG00000158777	ENST00000494943.1:c.347T>C	3.37:g.169889192A>G	ENSP00000420271:p.Val116Ala					PHC3_ENST00000467570.1_Missense_Mutation_p.V128A|PHC3_ENST00000481639.1_Missense_Mutation_p.V124A|PHC3_ENST00000474275.1_Missense_Mutation_p.V112A|PHC3_ENST00000497658.1_Missense_Mutation_p.V128A|PHC3_ENST00000495893.1_Missense_Mutation_p.V128A	p.V116A			Q8NDX5	PHC3_HUMAN	Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0655)		4	415	-	all_cancers(22;2.67e-22)|all_epithelial(15;4.73e-27)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		116			Ser-rich.		A2RRP9|Q5HYF0|Q6NSG2|Q8NFT7|Q8NFZ1|Q8TBM2|Q9H971|Q9H9I4	Missense_Mutation	SNP	ENST00000494943.1	37	c.347T>C		.	.	.	.	.	.	.	.	.	.	A	14.65	2.599240	0.46318	.	.	ENSG00000173889	ENST00000494943;ENST00000495893;ENST00000467570;ENST00000484931;ENST00000466189;ENST00000475729;ENST00000474275;ENST00000465896;ENST00000497658;ENST00000481639	T;T	0.34859	1.34;1.35	5.61	5.61	0.85477	.	0.193998	0.36167	N	0.002748	T	0.35711	0.0941	L	0.45137	1.4	0.31437	N	0.672384	P;P;B;P;P;P;P;B	0.41450	0.75;0.597;0.272;0.75;0.75;0.566;0.597;0.392	B;B;B;B;P;B;B;B	0.45310	0.298;0.256;0.042;0.376;0.476;0.111;0.186;0.091	T	0.44651	-0.9314	9	.	.	.	-8.7231	10.1913	0.43028	0.9261:0.0:0.0739:0.0	.	128;128;116;128;124;112;128;128	B4E2T1;E7EX82;Q8NDX5;Q8NDX5-5;G5E9U7;Q8NDX5-4;Q8NDX5-3;Q8NDX5-7	.;.;PHC3_HUMAN;.;.;.;.;.	A	116;128;128;128;128;128;112;128;128;124	ENSP00000420271:V116A;ENSP00000420294:V128A	.	V	-	2	0	PHC3	171371886	1.000000	0.71417	1.000000	0.80357	0.860000	0.49131	4.138000	0.58017	2.147000	0.66899	0.533000	0.62120	GTC		0.343	PHC3-004	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000352182.3	NM_024947		3	11	0	0	0	1	0	3	11					G	169889192	A	G	169889192	3	3	435	1	0	0	0	0	1	0	0	0	11818	275	10	4	2652	4	PHC3	3	169889192	Missense_Mutation	SNP	A	TCGA-XK-AAIW-01A-11D-A41K-08	232918	169889192	28133238	2123	23048											
PRKCI	5584	broad.mit.edu	37	chr3	169953062	169953062	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	accttccatctcctttgaggGcctttgcaatgaggttcgag	7	13	10	11	1	1	2	0	2	1	0	4	3	2	2	4	2	1	2	4	2	1	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:169953062G>A	ENST00000295797.4	+	2	451	c.146G>A	c.(145-147)gGc>gAc	p.G49D		NM_002740.5	NP_002731.4	P41743	KPCI_HUMAN	protein kinase C, iota	49	OPR.|Regulatory domain.				actin filament organization (GO:0007015)|cell junction assembly (GO:0034329)|cell migration (GO:0016477)|cell-cell junction organization (GO:0045216)|cellular response to insulin stimulus (GO:0032869)|cytoskeleton organization (GO:0007010)|establishment of apical/basal cell polarity (GO:0035089)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|eye photoreceptor cell development (GO:0042462)|Golgi vesicle budding (GO:0048194)|intracellular signal transduction (GO:0035556)|membrane organization (GO:0061024)|negative regulation of apoptotic process (GO:0043066)|negative regulation of glial cell apoptotic process (GO:0034351)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of endothelial cell apoptotic process (GO:2000353)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of glial cell proliferation (GO:0060252)|positive regulation of glucose import (GO:0046326)|positive regulation of neuron projection development (GO:0010976)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein phosphorylation (GO:0006468)|protein targeting to membrane (GO:0006612)|response to interleukin-1 (GO:0070555)|secretion (GO:0046903)|tight junction assembly (GO:0070830)|vesicle-mediated transport (GO:0016192)	apical plasma membrane (GO:0016324)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|intercellular bridge (GO:0045171)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|Schmidt-Lanterman incisure (GO:0043220)	ATP binding (GO:0005524)|phospholipid binding (GO:0005543)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)|zinc ion binding (GO:0008270)			breast(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	36	all_cancers(22;6.45e-23)|all_epithelial(15;8.52e-28)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197)		Tamoxifen(DB00675)	TCCTTTGAGGGCCTTTGCAAT	0.383																																						ENST00000295797.4																			0				breast(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	36						c.(145-147)gGc>gAc		protein kinase C, iota							111	102	105					3																	169953062		2203	4300	6503	SO:0001583	missense	5584				anti-apoptosis|cellular membrane organization|cellular response to insulin stimulus|establishment or maintenance of epithelial cell apical/basal polarity|intracellular signal transduction|nerve growth factor receptor signaling pathway|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|protein targeting to membrane|secretion|tight junction assembly|vesicle-mediated transport	cytosol|endosome|nucleus|polarisome	ATP binding|phospholipid binding|protein binding|protein kinase C activity|zinc ion binding	g.chr3:169953062G>A		CCDS3212.2	3q26.3	2008-07-18			ENSG00000163558	ENSG00000163558	2.7.11.13		9404	protein-coding gene	gene with protein product		600539		DXS1179E		7607695, 11978974	Standard	NM_002740		Approved	PKCI	uc003fgs.2	P41743	OTTHUMG00000150214	ENST00000295797.4:c.146G>A	3.37:g.169953062G>A	ENSP00000295797:p.Gly49Asp						p.G49D	NM_002740.5	NP_002731.4	P41743	KPCI_HUMAN	Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197)		2	451	+	all_cancers(22;6.45e-23)|all_epithelial(15;8.52e-28)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		49			OPR.|Regulatory domain.		D3DNQ4|Q8WW06	Missense_Mutation	SNP	ENST00000295797.4	37	c.146G>A	CCDS3212.2	.	.	.	.	.	.	.	.	.	.	G	12.88	2.069109	0.36470	.	.	ENSG00000163558	ENST00000295797	T	0.65732	-0.17	5.43	5.43	0.79202	Phox/Bem1p (2);	0.000000	0.85682	D	0.000000	T	0.36138	0.0956	N	0.01493	-0.835	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.33803	-0.9854	9	.	.	.	.	19.247	0.93906	0.0:0.0:1.0:0.0	.	49	P41743	KPCI_HUMAN	D	49	ENSP00000295797:G49D	.	G	+	2	0	PRKCI	171435756	1.000000	0.71417	0.996000	0.52242	0.997000	0.91878	9.440000	0.97547	2.516000	0.84829	0.655000	0.94253	GGC		0.383	PRKCI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316866.3	NM_002740		22	34	0	0	0	1	0	22	34					A	169953062	G	A	169953062	3	1	435	1	0	0	0	0	1	0	0	0	12514	1203	42	3	152	3	PRKCI	3	169953062	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	63870	169953062	28069368	2124	23049											
SLC7A14	57709	broad.mit.edu	37	chr3	170198432	170198432	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tttgcctggaaggcccagccGgattctcatggtgtaataat	9	12	11	9	1	1	0	1	0	1	0	2	2	1	2	3	4	2	1	3	4	3	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:170198432G>A	ENST00000231706.5	-	7	1954	c.1639C>T	c.(1639-1641)Cgg>Tgg	p.R547W	CLDN11_ENST00000451576.1_Intron|CLDN11_ENST00000486975.1_Intron	NM_020949.2	NP_066000.2	Q8TBB6	S7A14_HUMAN	solute carrier family 7, member 14	547					negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)|lysosome (GO:0005764)	amino acid transmembrane transporter activity (GO:0015171)	p.R547W(1)		central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(23)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(4)	53	all_cancers(22;2.41e-22)|all_epithelial(15;4.2e-27)|all_lung(20;1.17e-16)|Lung NSC(18;4.91e-16)|Ovarian(172;0.000902)|Breast(254;0.137)		Lung(28;6.23e-13)|LUSC - Lung squamous cell carcinoma(14;1.48e-12)			AGGCCCAGCCGGATTCTCATG	0.507																																						ENST00000231706.4																			1	Substitution - Missense(1)	p.R547W(1)	large_intestine(1)	central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(23)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(4)	53						c.(1639-1641)Cgg>Tgg		solute carrier family 7, member 14							97	96	96					3																	170198432		2203	4300	6503	SO:0001583	missense	57709					integral to membrane	amino acid transmembrane transporter activity	g.chr3:170198432G>A	BC022968	CCDS33892.1	3q26.2	2014-06-13	2013-07-19		ENSG00000013293	ENSG00000013293		"Solute carriers"	29326	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 142"	615720					Standard	NM_020949		Approved	KIAA1613, PPP1R142	uc003fgz.2	Q8TBB6	OTTHUMG00000158941	ENST00000231706.5:c.1639C>T	3.37:g.170198432G>A	ENSP00000231706:p.Arg547Trp					CLDN11_ENST00000486975.1_Intron|CLDN11_ENST00000451576.1_Intron	p.R547W	NM_020949.2	NP_066000.2	Q8TBB6	S7A14_HUMAN	Lung(28;6.23e-13)|LUSC - Lung squamous cell carcinoma(14;1.48e-12)		7	1954	-	all_cancers(22;2.41e-22)|all_epithelial(15;4.2e-27)|all_lung(20;1.17e-16)|Lung NSC(18;4.91e-16)|Ovarian(172;0.000902)|Breast(254;0.137)		547					B3KV33|Q9HCF9	Missense_Mutation	SNP	ENST00000231706.5	37	c.1639C>T	CCDS33892.1	.	.	.	.	.	.	.	.	.	.	G	16.37	3.105603	0.56291	.	.	ENSG00000013293	ENST00000231706	D	0.88509	-2.39	5.51	5.51	0.81932	.	0.363497	0.31859	N	0.006950	D	0.87501	0.6193	L	0.56769	1.78	0.58432	D	0.999995	P	0.51537	0.946	B	0.40565	0.333	D	0.87203	0.2242	10	0.36615	T	0.2	.	19.3998	0.94623	0.0:0.0:1.0:0.0	.	547	Q8TBB6	S7A14_HUMAN	W	547	ENSP00000231706:R547W	ENSP00000231706:R547W	R	-	1	2	SLC7A14	171681126	1.000000	0.71417	0.999000	0.59377	0.556000	0.35491	6.400000	0.73252	2.579000	0.87056	0.591000	0.81541	CGG		0.507	SLC7A14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352598.2	NM_020949		33	57	0	0	0	1	0	33	57					A	170198432	G	A	170198432	3	1	435	1	0	0	0	0	1	0	0	0	14696	1115	39	2	684	2	SLC7A14	3	170198432	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	245370	170198432	27823998	2125	23050											
FNDC3B	64778	broad.mit.edu	37	chr3	172013301	172013301	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tggaaaatacaagataatttAcaggttgtgtatgtttctat	14	16	8	3	0	1	1	0	0	1	1	1	2	1	2	0	2	2	3	0	2	8	8			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:172013301A>G	ENST00000336824.4	+	8	1097	c.998A>G	c.(997-999)tAc>tGc	p.Y333C	FNDC3B_ENST00000416957.1_Missense_Mutation_p.Y333C|FNDC3B_ENST00000415807.2_Missense_Mutation_p.Y333C	NM_001135095.1	NP_001128567.1	Q53EP0	FND3B_HUMAN	fibronectin type III domain containing 3B	333	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell migration (GO:0016477)|negative regulation of osteoblast differentiation (GO:0045668)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of fibroblast proliferation (GO:0048146)|substrate adhesion-dependent cell spreading (GO:0034446)|Type II pneumocyte differentiation (GO:0060510)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	poly(A) RNA binding (GO:0044822)			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(26)|ovary(3)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	69	all_cancers(22;1.01e-18)|Ovarian(172;0.00167)|Breast(254;0.165)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)	GBM - Glioblastoma multiforme(1;0.0494)		AAGATAATTTACAGGTTGTGT	0.403																																						ENST00000336824.4																			0				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(26)|ovary(3)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	69						c.(997-999)tAc>tGc		fibronectin type III domain containing 3B							104	99	101					3																	172013301		2203	4300	6503	SO:0001583	missense	64778					endoplasmic reticulum|integral to membrane		g.chr3:172013301A>G	AF543840	CCDS3217.1	3q26.31	2013-11-06			ENSG00000075420	ENSG00000075420		"Fibronectin type III domain containing"	24670	protein-coding gene	gene with protein product		611909				15527760	Standard	NM_022763		Approved	FAD104, DKFZp762K137, FLJ23399, PRO4979, YVTM2421	uc003fhy.3	Q53EP0	OTTHUMG00000156761	ENST00000336824.4:c.998A>G	3.37:g.172013301A>G	ENSP00000338523:p.Tyr333Cys					FNDC3B_ENST00000416957.1_Missense_Mutation_p.Y333C|FNDC3B_ENST00000415807.2_Missense_Mutation_p.Y333C	p.Y333C	NM_001135095.1	NP_001128567.1	Q53EP0	FND3B_HUMAN	LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)	GBM - Glioblastoma multiforme(1;0.0494)	8	1097	+	all_cancers(22;1.01e-18)|Ovarian(172;0.00167)|Breast(254;0.165)		333			Fibronectin type-III 1.		B2RB36|B3KXR8|D3DNQ7|Q5U5T8|Q6PIJ3|Q6UXG1|Q6UXZ5|Q8IXB2|Q8NBU7|Q96D78|Q9H5I7|Q9NSQ8	Missense_Mutation	SNP	ENST00000336824.4	37	c.998A>G	CCDS3217.1	.	.	.	.	.	.	.	.	.	.	A	23.0	4.364352	0.82463	.	.	ENSG00000075420	ENST00000415807;ENST00000336824;ENST00000416957	T;T;T	0.56941	0.43;0.43;0.43	5.98	5.98	0.97165	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.74336	0.3703	M	0.81497	2.545	0.80722	D	1	D;D	0.89917	1.0;0.998	D;D	0.87578	0.998;0.991	T	0.78069	-0.2348	10	0.87932	D	0	-19.2128	15.4607	0.75353	1.0:0.0:0.0:0.0	.	333;333	Q53EP0-2;Q53EP0	.;FND3B_HUMAN	C	333	ENSP00000411242:Y333C;ENSP00000338523:Y333C;ENSP00000389094:Y333C	ENSP00000338523:Y333C	Y	+	2	0	FNDC3B	173495995	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.830000	0.86741	2.288000	0.76882	0.528000	0.53228	TAC		0.403	FNDC3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345618.2	NM_022763		7	73	0	0	0	1	0	7	73					G	172013301	A	G	172013301	3	3	435	1	0	0	0	0	1	0	0	0	5970	391	14	4	1024	4	FNDC3B	3	172013301	Missense_Mutation	SNP	A	TCGA-XK-AAIW-01A-11D-A41K-08	1814869	172013301	26009129	2126	23051											
FNDC3B	64778	broad.mit.edu	37	chr3	172046812	172046812	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcaagttgacaaagctttGtccggcaatggggtacacat	11	10	11	9	1	0	1	0	1	0	0	1	1	1	1	1	3	3	5	1	3	4	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:172046812G>A	ENST00000336824.4	+	12	1424	c.1325G>A	c.(1324-1326)tGt>tAt	p.C442Y	FNDC3B_ENST00000416957.1_Missense_Mutation_p.C442Y|FNDC3B_ENST00000415807.2_Missense_Mutation_p.C442Y	NM_001135095.1	NP_001128567.1	Q53EP0	FND3B_HUMAN	fibronectin type III domain containing 3B	442	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell migration (GO:0016477)|negative regulation of osteoblast differentiation (GO:0045668)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of fibroblast proliferation (GO:0048146)|substrate adhesion-dependent cell spreading (GO:0034446)|Type II pneumocyte differentiation (GO:0060510)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	poly(A) RNA binding (GO:0044822)			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(26)|ovary(3)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	69	all_cancers(22;1.01e-18)|Ovarian(172;0.00167)|Breast(254;0.165)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)	GBM - Glioblastoma multiforme(1;0.0494)		ACAAAGCTTTGTCCGGCAATG	0.463																																						ENST00000336824.4																			0				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(26)|ovary(3)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	69						c.(1324-1326)tGt>tAt		fibronectin type III domain containing 3B							139	132	134					3																	172046812		2203	4300	6503	SO:0001583	missense	64778					endoplasmic reticulum|integral to membrane		g.chr3:172046812G>A	AF543840	CCDS3217.1	3q26.31	2013-11-06			ENSG00000075420	ENSG00000075420		"Fibronectin type III domain containing"	24670	protein-coding gene	gene with protein product		611909				15527760	Standard	NM_022763		Approved	FAD104, DKFZp762K137, FLJ23399, PRO4979, YVTM2421	uc003fhy.3	Q53EP0	OTTHUMG00000156761	ENST00000336824.4:c.1325G>A	3.37:g.172046812G>A	ENSP00000338523:p.Cys442Tyr					FNDC3B_ENST00000416957.1_Missense_Mutation_p.C442Y|FNDC3B_ENST00000415807.2_Missense_Mutation_p.C442Y	p.C442Y	NM_001135095.1	NP_001128567.1	Q53EP0	FND3B_HUMAN	LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)	GBM - Glioblastoma multiforme(1;0.0494)	12	1424	+	all_cancers(22;1.01e-18)|Ovarian(172;0.00167)|Breast(254;0.165)		442			Fibronectin type-III 2.		B2RB36|B3KXR8|D3DNQ7|Q5U5T8|Q6PIJ3|Q6UXG1|Q6UXZ5|Q8IXB2|Q8NBU7|Q96D78|Q9H5I7|Q9NSQ8	Missense_Mutation	SNP	ENST00000336824.4	37	c.1325G>A	CCDS3217.1	.	.	.	.	.	.	.	.	.	.	G	13.38	2.221300	0.39300	.	.	ENSG00000075420	ENST00000415807;ENST00000336824;ENST00000416957	T;T;T	0.56275	0.47;0.47;0.47	5.63	4.74	0.60224	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.086883	0.85682	D	0.000000	T	0.31765	0.0807	N	0.12569	0.235	0.80722	D	1	B;B	0.12013	0.005;0.0	B;B	0.08055	0.003;0.002	T	0.23119	-1.0197	10	0.02654	T	1	-9.667	16.2043	0.82114	0.0:0.0:0.8658:0.1342	.	442;442	Q53EP0-2;Q53EP0	.;FND3B_HUMAN	Y	442	ENSP00000411242:C442Y;ENSP00000338523:C442Y;ENSP00000389094:C442Y	ENSP00000338523:C442Y	C	+	2	0	FNDC3B	173529506	1.000000	0.71417	0.967000	0.41034	0.991000	0.79684	3.237000	0.51344	1.502000	0.48669	0.655000	0.94253	TGT		0.463	FNDC3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345618.2	NM_022763		26	39	0	0	0	1	0	26	39					A	172046812	G	A	172046812	3	1	435	1	0	0	0	0	1	0	0	0	5970	1377	48	3	1367	3	FNDC3B	3	172046812	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	33511	172046812	25975618	2127	23052											
GHSR	2693	broad.mit.edu	37	chr3	172166029	172166029	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	catggtgagcaggttgccagCgatgcccaccacgaagagtg	10	6	14	11	2	0	2	0	1	0	1	0	4	0	2	3	2	4	2	3	2	1	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:172166029C>T	ENST00000241256.2	-	1	217	c.175G>A	c.(175-177)Gct>Act	p.A59T	GHSR_ENST00000427970.1_Missense_Mutation_p.A59T	NM_198407.2	NP_940799.1	Q92847	GHSR_HUMAN	growth hormone secretagogue receptor	59					actin polymerization or depolymerization (GO:0008154)|adult feeding behavior (GO:0008343)|cellular response to insulin stimulus (GO:0032869)|decidualization (GO:0046697)|G-protein coupled receptor signaling pathway (GO:0007186)|growth hormone secretion (GO:0030252)|hormone-mediated signaling pathway (GO:0009755)|negative regulation of inflammatory response (GO:0050728)|negative regulation of insulin secretion (GO:0046676)|negative regulation of interleukin-1 beta production (GO:0032691)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|negative regulation of tumor necrosis factor biosynthetic process (GO:0042536)|positive regulation of appetite (GO:0032100)|positive regulation of fatty acid metabolic process (GO:0045923)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of multicellular organism growth (GO:0040018)|regulation of hindgut contraction (GO:0043134)|regulation of synapse assembly (GO:0051963)|response to food (GO:0032094)|response to hormone (GO:0009725)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|growth hormone secretagogue receptor activity (GO:0001616)|growth hormone-releasing hormone receptor activity (GO:0016520)|peptide hormone binding (GO:0017046)			biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	33	Ovarian(172;0.00143)|Breast(254;0.197)		Lung(28;3.93e-15)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)|STAD - Stomach adenocarcinoma(35;0.235)			AGGTTGCCAGCGATGCCCACC	0.667																																					Esophageal Squamous(93;641 1401 20883 29581 34638)	ENST00000241256.2																			0				biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	33						c.(175-177)Gct>Act		growth hormone secretagogue receptor							54	49	51					3																	172166029		2203	4300	6503	SO:0001583	missense	2693				actin polymerization or depolymerization|adult feeding behavior|decidualization|growth hormone secretion|hormone-mediated signaling pathway|negative regulation of inflammatory response|negative regulation of interleukin-1 beta production|negative regulation of interleukin-6 biosynthetic process|negative regulation of tumor necrosis factor biosynthetic process|positive regulation of appetite|positive regulation of multicellular organism growth	cell surface|integral to membrane|membrane raft|neuron projection|plasma membrane	growth hormone secretagogue receptor activity|growth hormone-releasing hormone receptor activity	g.chr3:172166029C>T	AY429112	CCDS3218.1, CCDS46959.1	3q26.31	2012-08-08			ENSG00000121853	ENSG00000121853		"GPCR / Class A : Ghrelin receptors"	4267	protein-coding gene	gene with protein product		601898				8688086	Standard	NM_198407		Approved		uc003fib.2	Q92847	OTTHUMG00000156946	ENST00000241256.2:c.175G>A	3.37:g.172166029C>T	ENSP00000241256:p.Ala59Thr					GHSR_ENST00000427970.1_Missense_Mutation_p.A59T	p.A59T	NM_198407.2	NP_940799.1	Q92847	GHSR_HUMAN	Lung(28;3.93e-15)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)|STAD - Stomach adenocarcinoma(35;0.235)		1	217	-	Ovarian(172;0.00143)|Breast(254;0.197)		59					Q14D12|Q6ISR8|Q92848|Q96RJ7	Missense_Mutation	SNP	ENST00000241256.2	37	c.175G>A	CCDS3218.1	.	.	.	.	.	.	.	.	.	.	C	1.380	-0.583608	0.03827	.	.	ENSG00000121853	ENST00000241256;ENST00000427970	T;T	0.37235	1.21;1.21	4.68	1.48	0.22813	.	0.663319	0.15368	N	0.266022	T	0.18257	0.0438	N	0.08118	0	0.19775	N	0.999953	B;B	0.18166	0.026;0.022	B;B	0.19148	0.024;0.006	T	0.20075	-1.0286	10	0.33940	T	0.23	-13.8698	9.8588	0.41101	0.52:0.3811:0.0989:0.0	.	59;59	Q92847-2;Q92847	.;GHSR_HUMAN	T	59	ENSP00000241256:A59T;ENSP00000395344:A59T	ENSP00000241256:A59T	A	-	1	0	GHSR	173648723	0.627000	0.27129	0.997000	0.53966	0.680000	0.39746	-0.087000	0.11215	0.177000	0.19895	-2.157000	0.00329	GCT		0.667	GHSR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346728.1	NM_004122		8	14	0	0	0	1	0	8	14					T	172166029	C	T	172166029	3	4	435	1	0	0	0	0	1	0	0	0	6375	768	27	1	1007	1	GHSR	3	172166029	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	119217	172166029	25856401	2128	23053											
ECT2	1894	broad.mit.edu	37	chr3	172480331	172480331	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatggaagaaatgactgaaaTgcaaggtaaaatttagcata	19	10	9	3	0	0	3	0	2	0	1	0	4	0	4	0	2	2	3	0	2	9	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:172480331T>C	ENST00000392692.3	+	9	1060	c.884T>C	c.(883-885)aTg>aCg	p.M295T	ECT2_ENST00000417960.1_Missense_Mutation_p.M263T|ECT2_ENST00000232458.5_Missense_Mutation_p.M264T|ECT2_ENST00000441497.2_Missense_Mutation_p.M264T|ECT2_ENST00000540509.1_Missense_Mutation_p.M295T|ECT2_ENST00000427830.1_Missense_Mutation_p.M264T	NM_001258315.1	NP_001245244.1	Q9H8V3	ECT2_HUMAN	epithelial cell transforming 2	295	BRCT 2. {ECO:0000255|PROSITE- ProRule:PRU00033}.				activation of protein kinase activity (GO:0032147)|activation of Rac GTPase activity (GO:0032863)|activation of Rho GTPase activity (GO:0032862)|apoptotic signaling pathway (GO:0097190)|cell morphogenesis (GO:0000902)|cellular response to calcium ion (GO:0071277)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to ionizing radiation (GO:0071479)|cytokinesis (GO:0000910)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of Cdc42 GTPase activity (GO:0043089)|positive regulation of cytokinesis (GO:0032467)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of Rho GTPase activity (GO:0032321)|protein homooligomerization (GO:0051260)|protein transport (GO:0015031)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|regulation of protein kinase activity (GO:0045859)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|tight junction assembly (GO:0070830)	cell-cell junction (GO:0005911)|centralspindlin complex (GO:0097149)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|midbody (GO:0030496)|mitotic spindle (GO:0072686)|nucleus (GO:0005634)|tight junction (GO:0005923)	GTPase activator activity (GO:0005096)|protein homodimerization activity (GO:0042803)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|signal transducer activity (GO:0004871)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(5)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	Ovarian(172;0.00197)|Breast(254;0.158)		Lung(28;1.33e-14)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)			ATGACTGAAATGCAAGGTAAA	0.299																																						ENST00000417960.1																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(5)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						c.(787-789)aTg>aCg		epithelial cell transforming sequence 2 oncogene							53	52	52					3																	172480331		2202	4296	6498	SO:0001583	missense	1894				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity|signal transducer activity	g.chr3:172480331T>C	AA206473	CCDS3220.1, CCDS58860.1	3q26.1-q26.2	2014-03-11	2014-03-11		ENSG00000114346	ENSG00000114346		"Rho guanine nucleotide exchange factors"	3155	protein-coding gene	gene with protein product		600586	"epithelial cell transforming sequence 2 oncogene"			8464478, 10579713	Standard	NM_018098		Approved	ARHGEF31	uc003fil.2	Q9H8V3	OTTHUMG00000156762	ENST00000392692.3:c.884T>C	3.37:g.172480331T>C	ENSP00000376457:p.Met295Thr					ECT2_ENST00000427830.1_Missense_Mutation_p.M264T|ECT2_ENST00000441497.2_Missense_Mutation_p.M264T|ECT2_ENST00000392692.3_Missense_Mutation_p.M295T|ECT2_ENST00000232458.5_Missense_Mutation_p.M264T|ECT2_ENST00000540509.1_Missense_Mutation_p.M295T	p.M263T	NM_001258316.1	NP_001245245.1	Q9H8V3	ECT2_HUMAN	Lung(28;1.33e-14)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)		9	1265	+	Ovarian(172;0.00197)|Breast(254;0.158)		264			BRCT 2.		Q0MT80|Q2M269|Q6U836|Q9NSV8|Q9NVW9	Missense_Mutation	SNP	ENST00000392692.3	37	c.788T>C	CCDS58860.1	.	.	.	.	.	.	.	.	.	.	T	11.53	1.667461	0.29604	.	.	ENSG00000114346	ENST00000232458;ENST00000392692;ENST00000427830;ENST00000417960;ENST00000441497;ENST00000540509	T;T;T;T;T;T	0.78816	-1.21;-1.21;-1.21;-1.21;-1.21;-1.21	5.51	5.51	0.81932	BRCT (4);	0.111276	0.85682	D	0.000000	T	0.72137	0.3423	L	0.42245	1.32	0.47584	D	0.999461	B;B;B;B	0.17038	0.002;0.02;0.005;0.002	B;B;B;B	0.20577	0.003;0.03;0.003;0.002	T	0.67003	-0.5780	10	0.32370	T	0.25	-20.3332	15.9062	0.79433	0.0:0.0:0.0:1.0	.	295;295;264;263	Q9H8V3;Q9H8V3-3;G5E9L8;Q9H8V3-2	ECT2_HUMAN;.;.;.	T	264;295;264;263;264;295	ENSP00000232458:M264T;ENSP00000376457:M295T;ENSP00000401910:M264T;ENSP00000415876:M263T;ENSP00000412259:M264T;ENSP00000443160:M295T	ENSP00000232458:M264T	M	+	2	0	ECT2	173963025	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	5.600000	0.67599	2.215000	0.71742	0.482000	0.46254	ATG		0.299	ECT2-003	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000345994.2	NM_018098		19	16	0	0	0	1	0	19	16					C	172480331	T	C	172480331	3	2	435	1	0	0	0	0	1	0	0	0	4901	1464	51	4	817	4	ECT2	3	172480331	Missense_Mutation	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	314302	172480331	25542099	2129	23054											
KCNMB2	10242	broad.mit.edu	37	chr3	178560711	178560711	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tactatgtgagaggatccaaCggatcaatagataaatgcaa	17	9	9	6	1	1	2	1	1	0	2	2	5	2	4	1	2	3	1	1	2	8	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:178560711C>T	ENST00000432997.1	+	5	1046	c.694C>T	c.(694-696)Cgg>Tgg	p.R232W	RP11-385J1.2_ENST00000437488.1_RNA|KCNMB2_ENST00000358316.3_Missense_Mutation_p.R232W|RP11-385J1.2_ENST00000425330.1_RNA|KCNMB2_ENST00000452583.1_Missense_Mutation_p.R232W|RP11-385J1.2_ENST00000432385.1_RNA|RP11-385J1.2_ENST00000451742.1_RNA|KCNMB2_ENST00000420517.2_Missense_Mutation_p.R232W	NM_001278911.1	NP_001265840.1	Q9NPA1	KCMB3_HUMAN	potassium large conductance calcium-activated channel, subfamily M, beta member 2	246					action potential (GO:0001508)|blood coagulation (GO:0007596)|detection of calcium ion (GO:0005513)|neuronal action potential (GO:0019228)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	calcium-activated potassium channel activity (GO:0015269)|potassium channel regulator activity (GO:0015459)	p.R232W(1)		NS(2)|endometrium(4)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	12	all_cancers(143;5.38e-18)|Ovarian(172;0.00769)|Breast(254;0.125)		OV - Ovarian serous cystadenocarcinoma(80;1.32e-27)|GBM - Glioblastoma multiforme(14;0.0321)|BRCA - Breast invasive adenocarcinoma(182;0.0841)		Miconazole(DB01110)|Procaine(DB00721)	GAGGATCCAACGGATCAATAG	0.383																																						ENST00000432997.1																			1	Substitution - Missense(1)	p.R232W(1)	endometrium(1)	NS(2)|endometrium(4)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	12						c.(694-696)Cgg>Tgg		potassium large conductance calcium-activated channel, subfamily M, beta member 2							60	60	60					3																	178560711		2203	4299	6502	SO:0001583	missense	10242				detection of calcium ion|platelet activation|regulation of action potential in neuron|regulation of vasoconstriction	voltage-gated potassium channel complex	calcium-activated potassium channel activity|ion channel inhibitor activity|potassium channel regulator activity	g.chr3:178560711C>T	AF099137	CCDS3223.1	3q26.32	2005-10-13			ENSG00000197584	ENSG00000197584		"Potassium channels"	6286	protein-coding gene	gene with protein product		605214				10097176	Standard	NM_181361		Approved		uc003fjd.3	Q9Y691	OTTHUMG00000157264	ENST00000432997.1:c.694C>T	3.37:g.178560711C>T	ENSP00000407592:p.Arg232Trp					KCNMB2_ENST00000452583.1_Missense_Mutation_p.R232W|RP11-385J1.2_ENST00000437488.1_RNA|KCNMB2_ENST00000420517.2_Missense_Mutation_p.R232W|RP11-385J1.2_ENST00000451742.1_RNA|RP11-385J1.2_ENST00000432385.1_RNA|RP11-385J1.2_ENST00000425330.1_RNA|KCNMB2_ENST00000358316.3_Missense_Mutation_p.R232W	p.R232W	NM_005832.3	NP_005823.1	Q9Y691	KCMB2_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1.32e-27)|GBM - Glioblastoma multiforme(14;0.0321)|BRCA - Breast invasive adenocarcinoma(182;0.0841)		5	1046	+	all_cancers(143;5.38e-18)|Ovarian(172;0.00769)|Breast(254;0.125)		232					B7Z9C9|D3DNR2|E9PER5|Q9NPG7|Q9NRM9|Q9UHN3	Missense_Mutation	SNP	ENST00000432997.1	37	c.694C>T	CCDS3223.1	.	.	.	.	.	.	.	.	.	.	C	15.46	2.838724	0.51057	.	.	ENSG00000197584	ENST00000420517;ENST00000452583;ENST00000432997;ENST00000358316;ENST00000457763	T;T;T;T	0.11063	2.81;2.81;2.81;2.81	5.76	4.87	0.63330	.	0.054480	0.64402	D	0.000002	T	0.20700	0.0498	L	0.29908	0.895	0.46437	D	0.999049	D	0.89917	1.0	D	0.66979	0.948	T	0.01266	-1.1401	10	0.72032	D	0.01	-15.5841	13.7575	0.62946	0.3955:0.6045:0.0:0.0	.	232	Q9Y691	KCMB2_HUMAN	W	232;232;232;232;213	ENSP00000408252:R232W;ENSP00000397483:R232W;ENSP00000407592:R232W;ENSP00000351068:R232W	ENSP00000351068:R232W	R	+	1	2	KCNMB2	180043405	0.577000	0.26708	0.988000	0.46212	0.996000	0.88848	1.175000	0.31944	1.391000	0.46566	0.655000	0.94253	CGG		0.383	KCNMB2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348251.1	NM_181361		22	24	0	0	0	1	0	22	24					T	178560711	C	T	178560711	3	4	435	1	0	0	0	0	1	0	0	0	8075	527	19	1	708	1	KCNMB2	3	178560711	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	6080380	178560711	19461719	2130	23055											
PIK3CA	5290	broad.mit.edu	37	chr3	178916935	178916935	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	taattgaaccagtaggcaacCgtgaagaaaagatcctcaat	17	8	8	8	1	1	4	1	2	0	2	2	4	2	4	3	1	2	2	3	1	8	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:178916935C>T	ENST00000263967.3	+	2	479	c.322C>T	c.(322-324)Cgt>Tgt	p.R108C		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	108					angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.G106_R108del(2)|p.G106_R108delGNR(2)|p.R108del(1)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	AGTAGGCAACCGTGAAGAAAA	0.338		57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	ENST00000263967.3		57		Dom	yes		3	3q26.3	5290	Mis	"phosphoinositide-3-kinase, catalytic, alpha polypeptide"			"E, O"			"colorectal, gastric, gliobastoma, breast"		5	Deletion - In frame(5)	p.G106_R108del(2)|p.G106_R108delGNR(2)|p.R108del(1)	lung(2)|breast(2)|large_intestine(1)	NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269						c.(322-324)Cgt>Tgt		phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha							88	84	86					3																	178916935		1825	4073	5898	SO:0001583	missense	5290				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	g.chr3:178916935C>T		CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"phosphoinositide-3-kinase, catalytic, alpha polypeptide"			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.322C>T	3.37:g.178916935C>T	ENSP00000263967:p.Arg108Cys	HNSCC(19;0.045)|TSP Lung(28;0.18)					p.R108C	NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		2	479	+	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		108			PI3K-ABD.		Q14CW1|Q99762	Missense_Mutation	SNP	ENST00000263967.3	37	c.322C>T	CCDS43171.1	.	.	.	.	.	.	.	.	.	.	C	19.54	3.847512	0.71603	.	.	ENSG00000121879	ENST00000263967;ENST00000468036	T;T	0.74421	0.79;-0.84	5.52	5.52	0.82312	Phosphatidylinositol 3-kinase, p85-binding (2);	0.000000	0.85682	D	0.000000	D	0.82802	0.5116	M	0.64404	1.975	0.80722	D	1	D	0.89917	1.0	D	0.73380	0.98	T	0.82360	-0.0496	9	.	.	.	-11.9048	12.5332	0.56128	0.2798:0.7202:0.0:0.0	.	108	P42336	PK3CA_HUMAN	C	108	ENSP00000263967:R108C;ENSP00000417479:R108C	.	R	+	1	0	PIK3CA	180399629	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.259000	0.65485	2.584000	0.87258	0.555000	0.69702	CGT		0.338	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2			21	38	0	0	0	1	0	21	38					T	178916935	C	T	178916935	3	4	435	1	0	0	0	0	1	0	0	0	11913	652	23	2	324	2	PIK3CA	3	178916935	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	356224	178916935	19105495	2131	23056											
PIK3CA	5290	broad.mit.edu	37	chr3	178937024	178937024	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccgaaattctacccaaattgCttctgtctgttaaatggaat	12	14	6	9	1	3	0	0	0	3	0	3	2	3	1	2	1	2	2	2	1	6	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:178937024C>A	ENST00000263967.3	+	11	1862	c.1705C>A	c.(1705-1707)Ctt>Att	p.L569I		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	569	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.				angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)			NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	ACCCAAATTGCTTCTGTCTGT	0.343		57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	ENST00000263967.3		57		Dom	yes		3	3q26.3	5290	Mis	"phosphoinositide-3-kinase, catalytic, alpha polypeptide"			"E, O"			"colorectal, gastric, gliobastoma, breast"		0				NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269						c.(1705-1707)Ctt>Att		phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha							120	109	112					3																	178937024		1834	4082	5916	SO:0001583	missense	5290				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	g.chr3:178937024C>A		CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"phosphoinositide-3-kinase, catalytic, alpha polypeptide"			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.1705C>A	3.37:g.178937024C>A	ENSP00000263967:p.Leu569Ile	HNSCC(19;0.045)|TSP Lung(28;0.18)					p.L569I	NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		11	1862	+	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		569			PI3K helical.		Q14CW1|Q99762	Missense_Mutation	SNP	ENST00000263967.3	37	c.1705C>A	CCDS43171.1	.	.	.	.	.	.	.	.	.	.	C	25.5	4.649528	0.87958	.	.	ENSG00000121879	ENST00000263967	T	0.78246	-1.16	5.46	5.46	0.80206	Phosphoinositide 3-kinase, accessory (PIK) domain (3);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.88610	0.6483	M	0.78916	2.43	0.80722	D	1	D	0.76494	0.999	D	0.74348	0.983	D	0.89068	0.3467	10	0.66056	D	0.02	-31.7202	19.6635	0.95885	0.0:1.0:0.0:0.0	.	569	P42336	PK3CA_HUMAN	I	569	ENSP00000263967:L569I	ENSP00000263967:L569I	L	+	1	0	PIK3CA	180419718	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.531000	0.60602	2.720000	0.93068	0.655000	0.94253	CTT		0.343	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2			24	45	1	0	2.79863e-10	1	2.98826e-10	24	45					A	178937024	C	A	178937024	3	1	435	1	0	0	0	0	1	0	0	0	11913	797	28	5	1743	5	PIK3CA	3	178937024	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	20089	178937024	19085406	2132	23057											
MFN1	55669	broad.mit.edu	37	chr3	179069813	179069813	+	Frame_Shift_Del	DEL	T	T	-																															ggagacacatgaaggtggcaTtttttggcaggtaattattt																										TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:179069813delT	ENST00000471841.1	+	3	364	c.238delT	c.(238-240)tttfs	p.F81fs	MFN1_ENST00000280653.7_Frame_Shift_Del_p.F81fs|MFN1_ENST00000263969.5_Frame_Shift_Del_p.F81fs	NM_033540.2	NP_284941	Q8IWA4	MFN1_HUMAN	mitofusin 1	81	Dynamin-type G.				mitochondrial fusion (GO:0008053)	integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|ovary(3)|prostate(1)|urinary_tract(1)	31	all_cancers(143;1.67e-16)|Ovarian(172;0.0172)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.00225)|BRCA - Breast invasive adenocarcinoma(182;0.0923)			GAAGGTGGCATTTTTTGGCAG	0.388																																						ENST00000471841.1																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|ovary(3)|prostate(1)|urinary_tract(1)	31						c.(238-240)ttfs		mitofusin 1							143	149	147					3																	179069813		2203	4300	6503	SO:0001589	frameshift_variant	55669				mitochondrial fusion	integral to membrane|mitochondrial outer membrane	GTP binding|GTPase activity	g.chr3:179069813delT	AF054986	CCDS3228.1	3q26.32	2006-12-13			ENSG00000171109	ENSG00000171109			18262	protein-coding gene	gene with protein product		608506				8358434, 11181170	Standard	NM_033540		Approved	FLJ20693	uc003fjs.3	Q8IWA4	OTTHUMG00000157385	ENST00000471841.1:c.238delT	3.37:g.179069813delT	ENSP00000420617:p.Phe81fs					MFN1_ENST00000263969.5_Frame_Shift_Del_p.F81fs|MFN1_ENST00000280653.7_Frame_Shift_Del_p.F81fs	p.F81fs	NM_033540.2	NP_284941.2	Q8IWA4	MFN1_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.00225)|BRCA - Breast invasive adenocarcinoma(182;0.0923)		3	364	+	all_cancers(143;1.67e-16)|Ovarian(172;0.0172)|Breast(254;0.155)		81					B2RAR1|D3DNR6|O15323|O60639|Q9BZB5|Q9NWQ2	Frame_Shift_Del	DEL	ENST00000471841.1	37	c.238delT	CCDS3228.1																																																																																				0.388	MFN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348654.2	NM_017927		45	92						45	92	---	---	---	---	-	179069813	T	-	179069813	7	5	435	1	0	1	0	1	0	0	0	0	9523	1493	52	0	244	0	MFN1	3	179069813	Frame_Shift_Del	DEL	T	TCGA-XK-AAIW-01A-11D-A41K-08	132789	179069813	18952617	2133	23058											
MFN1	55669	broad.mit.edu	37	chr3	179085366	179085366	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tagaaagcaaaaagcacaggGgatgccagaaagtggtatgc	17	5	13	6	0	0	2	0	0	0	2	0	3	0	3	1	3	4	3	1	3	6	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:179085366G>A	ENST00000471841.1	+	8	1019	c.893G>A	c.(892-894)gGg>gAg	p.G298E	MFN1_ENST00000280653.7_Missense_Mutation_p.G298E|MFN1_ENST00000263969.5_Missense_Mutation_p.G298E	NM_033540.2	NP_284941	Q8IWA4	MFN1_HUMAN	mitofusin 1	298	Dynamin-type G.				mitochondrial fusion (GO:0008053)	integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|ovary(3)|prostate(1)|urinary_tract(1)	31	all_cancers(143;1.67e-16)|Ovarian(172;0.0172)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.00225)|BRCA - Breast invasive adenocarcinoma(182;0.0923)			AAAGCACAGGGGATGCCAGAA	0.403																																						ENST00000471841.1																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|ovary(3)|prostate(1)|urinary_tract(1)	31						c.(892-894)gGg>gAg		mitofusin 1							56	57	57					3																	179085366		2203	4300	6503	SO:0001583	missense	55669				mitochondrial fusion	integral to membrane|mitochondrial outer membrane	GTP binding|GTPase activity	g.chr3:179085366G>A	AF054986	CCDS3228.1	3q26.32	2006-12-13			ENSG00000171109	ENSG00000171109			18262	protein-coding gene	gene with protein product		608506				8358434, 11181170	Standard	NM_033540		Approved	FLJ20693	uc003fjs.3	Q8IWA4	OTTHUMG00000157385	ENST00000471841.1:c.893G>A	3.37:g.179085366G>A	ENSP00000420617:p.Gly298Glu					MFN1_ENST00000263969.5_Missense_Mutation_p.G298E|MFN1_ENST00000280653.7_Missense_Mutation_p.G298E	p.G298E	NM_033540.2	NP_284941.2	Q8IWA4	MFN1_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.00225)|BRCA - Breast invasive adenocarcinoma(182;0.0923)		8	1019	+	all_cancers(143;1.67e-16)|Ovarian(172;0.0172)|Breast(254;0.155)		298					B2RAR1|D3DNR6|O15323|O60639|Q9BZB5|Q9NWQ2	Missense_Mutation	SNP	ENST00000471841.1	37	c.893G>A	CCDS3228.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.981674	0.74474	.	.	ENSG00000171109	ENST00000471841;ENST00000280653;ENST00000539169;ENST00000263969;ENST00000474903	D;D;D;D	0.97430	-4.38;-4.38;-4.38;-4.38	5.24	5.24	0.73138	.	0.000000	0.85682	D	0.000000	D	0.98604	0.9533	M	0.86953	2.85	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.98645	1.0677	10	0.42905	T	0.14	-13.5304	19.1816	0.93625	0.0:0.0:1.0:0.0	.	298;326;298	Q8IWA4-3;Q4AEJ4;Q8IWA4	.;.;MFN1_HUMAN	E	298;298;298;298;161	ENSP00000420617:G298E;ENSP00000280653:G298E;ENSP00000263969:G298E;ENSP00000419926:G161E	ENSP00000263969:G298E	G	+	2	0	MFN1	180568060	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.358000	0.97109	2.601000	0.87937	0.655000	0.94253	GGG		0.403	MFN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348654.2	NM_017927		18	23	0	0	0	1	0	18	23					A	179085366	G	A	179085366	3	1	435	1	0	0	0	0	1	0	0	0	9523	1232	43	3	919	3	MFN1	3	179085366	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	15553	179085366	18937064	2134	23059											
ACTL6A	86	broad.mit.edu	37	chr3	179287663	179287663	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	atcctatactgtgagagctgGttatgctggtgaggactgcc	8	12	13	8	0	0	2	0	2	0	1	1	4	1	3	2	3	4	3	2	3	3	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:179287663G>A	ENST00000429709.2	+	2	290	c.77G>A	c.(76-78)gGt>gAt	p.G26D	ACTL6A_ENST00000392662.1_5'UTR|ACTL6A_ENST00000450518.2_5'UTR	NM_004301.3	NP_004292.1	O96019	ACL6A_HUMAN	actin-like 6A	26					ATP-dependent chromatin remodeling (GO:0043044)|chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|nervous system development (GO:0007399)|neural retina development (GO:0003407)|regulation of growth (GO:0040008)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	Ino80 complex (GO:0031011)|npBAF complex (GO:0071564)|NuA4 histone acetyltransferase complex (GO:0035267)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)	chromatin binding (GO:0003682)|transcription coactivator activity (GO:0003713)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|urinary_tract(1)	21	all_cancers(143;3.94e-16)|Ovarian(172;0.0172)|Breast(254;0.191)		OV - Ovarian serous cystadenocarcinoma(80;5.98e-26)|GBM - Glioblastoma multiforme(14;0.0169)			GTGAGAGCTGGTTATGCTGGT	0.348																																						ENST00000429709.2																			0				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|urinary_tract(1)	21						c.(76-78)gGt>gAt		actin-like 6A							150	152	151					3																	179287663		2203	4300	6503	SO:0001583	missense	86				chromatin remodeling|DNA recombination|DNA repair|histone H2A acetylation|histone H4 acetylation|nervous system development|regulation of growth|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	Ino80 complex|npBAF complex|NuA4 histone acetyltransferase complex|plasma membrane|SWI/SNF complex	ATP binding|chromatin binding	g.chr3:179287663G>A	AK098691	CCDS3231.1, CCDS43174.1	3q26.33	2011-07-06			ENSG00000136518	ENSG00000136518		"INO80 complex subunits"	24124	protein-coding gene	gene with protein product	"BAF complex 53 kDa subunit", "BRG1-associated factor", "actin-related protein 4", "INO80 complex subunit K"	604958				9845365, 10380635	Standard	NM_004301		Approved	Actl6, BAF53A, Arp4, Baf53a, INO80K	uc003fjw.3	O96019	OTTHUMG00000157782	ENST00000429709.2:c.77G>A	3.37:g.179287663G>A	ENSP00000397552:p.Gly26Asp					ACTL6A_ENST00000450518.2_5'UTR|ACTL6A_ENST00000392662.1_5'UTR	p.G26D	NM_004301.3	NP_004292.1	O96019	ACL6A_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;5.98e-26)|GBM - Glioblastoma multiforme(14;0.0169)		2	290	+	all_cancers(143;3.94e-16)|Ovarian(172;0.0172)|Breast(254;0.191)		26					B3KMN1|D3DNR9|Q8TAE5|Q9BVS8|Q9H0W6	Missense_Mutation	SNP	ENST00000429709.2	37	c.77G>A	CCDS3231.1	.	.	.	.	.	.	.	.	.	.	G	32	5.160238	0.94727	.	.	ENSG00000136518	ENST00000429709	D	0.99730	-6.56	5.12	5.12	0.69794	.	0.000000	0.85682	D	0.000000	D	0.99851	0.9931	H	0.97440	4.005	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96586	0.9434	10	0.87932	D	0	.	18.9343	0.92579	0.0:0.0:1.0:0.0	.	26	O96019	ACL6A_HUMAN	D	26	ENSP00000397552:G26D	ENSP00000397552:G26D	G	+	2	0	ACTL6A	180770357	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.799000	0.99117	2.542000	0.85734	0.650000	0.86243	GGT		0.348	ACTL6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349599.1	NM_004301		10	76	0	0	0	1	0	10	76					A	179287663	G	A	179287663	3	1	435	1	0	0	0	0	1	0	0	0	198	1261	44	3	83	3	ACTL6A	3	179287663	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	202297	179287663	18734767	2135	23060											
MRPL47	57129	broad.mit.edu	37	chr3	179320470	179320470	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tttttcttgcccccagttttTtgggtcatcaaaaaattctt	8	19	5	9	0	4	0	2	0	2	0	4	0	4	0	2	1	1	1	2	1	3	8			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:179320470T>C	ENST00000476781.1	-	2	243	c.214A>G	c.(214-216)Aaa>Gaa	p.K72E	MRPL47_ENST00000259038.2_Missense_Mutation_p.K52E|NDUFB5_ENST00000472629.1_5'Flank|NDUFB5_ENST00000493866.1_5'Flank|MRPL47_ENST00000392659.2_Intron|NDUFB5_ENST00000259037.3_5'Flank	NM_020409.2	NP_065142.2	Q9HD33	RM47_HUMAN	mitochondrial ribosomal protein L47	72					translation (GO:0006412)	mitochondrial ribosome (GO:0005761)|mitochondrion (GO:0005739)	structural constituent of ribosome (GO:0003735)			breast(1)|endometrium(1)|large_intestine(3)|lung(4)|skin(1)|stomach(1)	11	all_cancers(143;9.62e-16)|Ovarian(172;0.0172)|Breast(254;0.191)		OV - Ovarian serous cystadenocarcinoma(80;5.98e-26)|GBM - Glioblastoma multiforme(14;0.0169)|BRCA - Breast invasive adenocarcinoma(182;0.18)			CCCCAGTTTTTTGGGTCATCA	0.418																																						ENST00000476781.1																			0				breast(1)|endometrium(1)|large_intestine(3)|lung(4)|skin(1)|stomach(1)	11						c.(214-216)Aaa>Gaa		mitochondrial ribosomal protein L47							76	83	81					3																	179320470		2203	4300	6503	SO:0001583	missense	57129				translation	mitochondrial ribosome	structural constituent of ribosome	g.chr3:179320470T>C	AF285120	CCDS3232.1, CCDS3233.1	3q26.33	2012-11-14			ENSG00000136522	ENSG00000136522		"Mitochondrial ribosomal proteins / large subunits"	16652	protein-coding gene	gene with protein product	"nasopharyngeal carcinoma metastasis-related 1"	611852				11551941	Standard	NM_177988		Approved	CGI-204, NCM1	uc003fjz.3	Q9HD33	OTTHUMG00000157784	ENST00000476781.1:c.214A>G	3.37:g.179320470T>C	ENSP00000417602:p.Lys72Glu					MRPL47_ENST00000392659.2_Intron|MRPL47_ENST00000259038.2_Missense_Mutation_p.K52E	p.K72E	NM_020409.2	NP_065142.2	Q9HD33	RM47_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;5.98e-26)|GBM - Glioblastoma multiforme(14;0.0169)|BRCA - Breast invasive adenocarcinoma(182;0.18)		2	243	-	all_cancers(143;9.62e-16)|Ovarian(172;0.0172)|Breast(254;0.191)		72					Q6XRG1|Q8N5D1	Missense_Mutation	SNP	ENST00000476781.1	37	c.214A>G	CCDS3232.1	.	.	.	.	.	.	.	.	.	.	T	14.12	2.441783	0.43326	.	.	ENSG00000136522	ENST00000476781;ENST00000259038	T;T	0.33865	1.39;1.41	5.94	3.55	0.40652	.	0.117723	0.56097	N	0.000024	T	0.25005	0.0607	L	0.31065	0.9	0.80722	D	1	B;B	0.26363	0.014;0.147	B;B	0.28991	0.014;0.097	T	0.04723	-1.0931	10	0.35671	T	0.21	-15.5943	7.367	0.26779	0.1286:0.0704:0.0:0.801	.	52;72	Q9HD33-2;Q9HD33	.;RM47_HUMAN	E	72;52	ENSP00000417602:K72E;ENSP00000259038:K52E	ENSP00000259038:K52E	K	-	1	0	MRPL47	180803164	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.213000	0.42844	0.492000	0.27815	0.528000	0.53228	AAA		0.418	MRPL47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349623.1	NM_020409		26	35	0	0	0	1	0	26	35					C	179320470	T	C	179320470	3	2	435	1	0	0	0	0	1	0	0	0	9811	1850	64	4	562	4	MRPL47	3	179320470	Missense_Mutation	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	32807	179320470	18701960	2136	23061											
TTC14	151613	broad.mit.edu	37	chr3	180322340	180322340	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gctcttctcttccaccacacCtatctggtattaaattaggt	9	15	5	12	0	3	0	0	0	3	0	5	0	4	0	3	2	0	2	3	2	5	6			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:180322340C>A	ENST00000296015.4	+	5	778	c.646C>A	c.(646-648)Cta>Ata	p.L216I	RP11-496B10.3_ENST00000472596.1_lincRNA|TTC14_ENST00000382584.4_Missense_Mutation_p.L216I|TTC14_ENST00000412756.2_Missense_Mutation_p.L216I	NM_133462.3	NP_597719.1	Q96N46	TTC14_HUMAN	tetratricopeptide repeat domain 14	216							RNA binding (GO:0003723)			endometrium(3)|kidney(5)|large_intestine(9)|lung(24)|ovary(2)|pancreas(1)|skin(1)	45	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)			TCCACCACACCTATCTGGTAT	0.333																																						ENST00000412756.2																			0				endometrium(3)|kidney(5)|large_intestine(9)|lung(24)|ovary(2)|pancreas(1)|skin(1)	45						c.(646-648)Cta>Ata		tetratricopeptide repeat domain 14							66	65	65					3																	180322340		2203	4295	6498	SO:0001583	missense	151613						RNA binding	g.chr3:180322340C>A	AB075860	CCDS3237.1, CCDS46963.1, CCDS75055.1	3q27.2	2013-01-10			ENSG00000163728	ENSG00000163728		"Tetratricopeptide (TTC) repeat domain containing"	24697	protein-coding gene	gene with protein product						11853319	Standard	NM_001042601		Approved	FLJ00166, KIAA1980	uc003fkk.3	Q96N46	OTTHUMG00000157859	ENST00000296015.4:c.646C>A	3.37:g.180322340C>A	ENSP00000296015:p.Leu216Ile					TTC14_ENST00000296015.4_Missense_Mutation_p.L216I|TTC14_ENST00000382584.4_Missense_Mutation_p.L216I	p.L216I	NM_001042601.2	NP_001036066.1	Q96N46	TTC14_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)		5	715	+	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		216					G5E9X0|Q6UWJ7|Q8TF22	Missense_Mutation	SNP	ENST00000296015.4	37	c.646C>A	CCDS3237.1	.	.	.	.	.	.	.	.	.	.	C	14.62	2.590530	0.46214	.	.	ENSG00000163728	ENST00000296015;ENST00000412756;ENST00000382584;ENST00000492617;ENST00000495660	T;T	0.50001	0.76;0.76	5.71	2.82	0.32997	.	0.284900	0.34386	N	0.004002	T	0.37652	0.1011	L	0.46157	1.445	0.80722	D	1	P;B;B	0.45283	0.855;0.063;0.376	B;B;B	0.40702	0.338;0.04;0.09	T	0.09509	-1.0671	10	0.35671	T	0.21	-4.525	8.4286	0.32744	0.1229:0.7405:0.0:0.1365	.	216;216;216	Q96N46-2;G5E9X0;Q96N46	.;.;TTC14_HUMAN	I	216;216;216;116;116	ENSP00000296015:L216I;ENSP00000372027:L216I	ENSP00000296015:L216I	L	+	1	2	TTC14	181805034	0.015000	0.18098	0.982000	0.44146	0.971000	0.66376	0.296000	0.19083	0.705000	0.31890	0.650000	0.86243	CTA		0.333	TTC14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349786.1	NM_133462		16	70	1	0	2.31682e-05	1	2.39009e-05	16	70					A	180322340	C	A	180322340	3	1	435	1	0	0	0	0	1	0	0	0	16678	680	24	5	664	5	TTC14	3	180322340	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	1001870	180322340	17700090	2137	23062											
TTC14	151613	broad.mit.edu	37	chr3	180323592	180323593	+	Frame_Shift_Ins	INS	-	-	A																															gattttgcttctgcattgagINSaaaaaaacaatccgcatctt																										TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:180323592_180323593insA	ENST00000296015.4	+	7	1028_1029	c.896_897insA	c.(895-900)agaaaafs	p.RK299fs	TTC14_ENST00000382584.4_Frame_Shift_Ins_p.RK299fs|TTC14_ENST00000412756.2_Frame_Shift_Ins_p.RK299fs	NM_133462.3	NP_597719.1	Q96N46	TTC14_HUMAN	tetratricopeptide repeat domain 14	299							RNA binding (GO:0003723)			endometrium(3)|kidney(5)|large_intestine(9)|lung(24)|ovary(2)|pancreas(1)|skin(1)	45	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)			TCTGCATTGAGAAAAAAACAAT	0.292																																						ENST00000412756.2																			0				endometrium(3)|kidney(5)|large_intestine(9)|lung(24)|ovary(2)|pancreas(1)|skin(1)	45						c.(895-897)aaafs		tetratricopeptide repeat domain 14																																				SO:0001589	frameshift_variant	151613						RNA binding	g.chr3:180323592_180323593insA	AB075860	CCDS3237.1, CCDS46963.1, CCDS75055.1	3q27.2	2013-01-10			ENSG00000163728	ENSG00000163728		"Tetratricopeptide (TTC) repeat domain containing"	24697	protein-coding gene	gene with protein product						11853319	Standard	NM_001042601		Approved	FLJ00166, KIAA1980	uc003fkk.3	Q96N46	OTTHUMG00000157859	ENST00000296015.4:c.903dupA	3.37:g.180323599_180323599dupA	ENSP00000296015:p.Arg299fs					TTC14_ENST00000296015.4_Frame_Shift_Ins_p.K299fs|TTC14_ENST00000382584.4_Frame_Shift_Ins_p.K299fs	p.K299fs	NM_001042601.2	NP_001036066.1	Q96N46	TTC14_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)		7	965_966	+	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		299					G5E9X0|Q6UWJ7|Q8TF22	Frame_Shift_Ins	INS	ENST00000296015.4	37	c.896_897insA	CCDS3237.1																																																																																				0.292	TTC14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349786.1	NM_133462		34	82						34	82	---	---	---	---	A	180323593	-	A	180323592	7	5	435	1	0	1	1	0	0	0	0	0	16678	942	33	0	922	0	TTC14	3	180323592	Frame_Shift_Ins	INS	-	TCGA-XK-AAIW-01A-11D-A41K-08	1252	180323592	17698838	2138	23063											
DNAJC19	131118	broad.mit.edu	37	chr3	180704808	180704808	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctataatagccaccactgaaGgcctgaaagaagaaatgcat	17	7	8	9	0	0	4	0	2	0	2	0	4	0	4	3	1	2	1	3	1	7	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:180704808G>T	ENST00000382564.2	-	4	302	c.132C>A	c.(130-132)gcC>gcA	p.A44A	DNAJC19_ENST00000479269.1_Silent_p.A19A|DNAJC19_ENST00000491873.1_Silent_p.A19A|DNAJC19_ENST00000486355.1_Silent_p.A44A	NM_145261.3	NP_660304.1	Q96DA6	TIM14_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 19	44					cellular protein metabolic process (GO:0044267)|genitalia development (GO:0048806)|protein folding (GO:0006457)|protein targeting to mitochondrion (GO:0006626)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)				large_intestine(2)|lung(1)	3	all_cancers(143;3.12e-14)|Ovarian(172;0.0212)		Epithelial(37;3.05e-36)|OV - Ovarian serous cystadenocarcinoma(80;1.55e-22)			CACCACTGAAGGCCTGAAAGA	0.323																																						ENST00000382564.2																			0				large_intestine(2)|lung(1)	3						c.(130-132)gcC>gcA		DnaJ (Hsp40) homolog, subfamily C, member 19							73	78	76					3																	180704808		2203	4300	6503	SO:0001819	synonymous_variant	131118				genitalia development|protein folding|protein targeting to mitochondrion|transmembrane transport|visual perception	integral to membrane|mitochondrial inner membrane	heat shock protein binding	g.chr3:180704808G>T		CCDS33895.1, CCDS54684.1	3q26.33	2014-09-17			ENSG00000205981	ENSG00000205981		"Heat shock proteins / DNAJ (HSP40)"	30528	protein-coding gene	gene with protein product		608977				19564938	Standard	NM_145261		Approved	TIMM14, Tim14, Pam18	uc003fkt.3	Q96DA6	OTTHUMG00000158180	ENST00000382564.2:c.132C>A	3.37:g.180704808G>T						DNAJC19_ENST00000491873.1_Silent_p.A19A|DNAJC19_ENST00000479269.1_Silent_p.A19A|DNAJC19_ENST00000486355.1_Silent_p.A44A	p.A44A	NM_145261.3	NP_660304.1	Q96DA6	TIM14_HUMAN	Epithelial(37;3.05e-36)|OV - Ovarian serous cystadenocarcinoma(80;1.55e-22)		4	302	-	all_cancers(143;3.12e-14)|Ovarian(172;0.0212)		44					B2R4B1|C9JBV1	Silent	SNP	ENST00000382564.2	37	c.132C>A	CCDS33895.1																																																																																				0.323	DNAJC19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350336.1	NM_145261		41	78	1	0	4.06502e-11	1	4.36823e-11	41	78					T	180704808	G	T	180704808	2	4	435	1	0	0	0	0	0	0	0	1	4638	987	35	5		5	DNAJC19	3	180704808	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	381216	180704808	17317622	2139	23064											
LAMP3	27074	broad.mit.edu	37	chr3	182870252	182870252	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gttcccagaggcttgcgttgCgttggggtcgatgttgaagt	5	13	16	7	3	0	2	0	1	0	1	2	3	1	2	1	3	2	5	1	3	1	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:182870252C>T	ENST00000265598.3	-	3	1054	c.799G>A	c.(799-801)Gca>Aca	p.A267T	LAMP3_ENST00000466939.1_Missense_Mutation_p.A243T	NM_014398.3	NP_055213.2	Q9UQV4	LAMP3_HUMAN	lysosomal-associated membrane protein 3	267					cell proliferation (GO:0008283)|immune system process (GO:0002376)	alveolar lamellar body membrane (GO:0097233)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(9)|ovary(2)|prostate(2)	28	all_cancers(143;9.14e-14)|Ovarian(172;0.0355)		all cancers(12;2.91e-44)|Epithelial(37;5.52e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;4.16e-21)			GCTTGCGTTGCGTTGGGGTCG	0.453																																						ENST00000265598.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(9)|ovary(2)|prostate(2)	28						c.(799-801)Gca>Aca		lysosomal-associated membrane protein 3							199	209	205					3																	182870252		2203	4300	6503	SO:0001583	missense	27074				cell proliferation	integral to membrane|lysosomal membrane		g.chr3:182870252C>T	AB013924	CCDS3242.1	3q26.3-q27	2011-11-24			ENSG00000078081	ENSG00000078081		"CD molecules"	14582	protein-coding gene	gene with protein product		605883				9721848	Standard	NM_014398		Approved	LAMP, TSC403, DC-LAMP, DCLAMP, CD208	uc003flh.4	Q9UQV4	OTTHUMG00000158387	ENST00000265598.3:c.799G>A	3.37:g.182870252C>T	ENSP00000265598:p.Ala267Thr					LAMP3_ENST00000466939.1_Missense_Mutation_p.A243T	p.A267T	NM_014398.3	NP_055213.2	Q9UQV4	LAMP3_HUMAN	all cancers(12;2.91e-44)|Epithelial(37;5.52e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;4.16e-21)		3	1054	-	all_cancers(143;9.14e-14)|Ovarian(172;0.0355)		267					D3DNS4|O94781|Q8NEC8	Missense_Mutation	SNP	ENST00000265598.3	37	c.799G>A	CCDS3242.1	.	.	.	.	.	.	.	.	.	.	C	7.572	0.666873	0.14710	.	.	ENSG00000078081	ENST00000265598;ENST00000466939	T;T	0.33216	1.42;1.42	5.52	0.605	0.17553	.	0.937914	0.08906	N	0.876606	T	0.16854	0.0405	N	0.20685	0.6	0.09310	N	1	B	0.21309	0.054	B	0.15484	0.013	T	0.30179	-0.9987	10	0.25751	T	0.34	-0.5055	4.9191	0.13860	0.0:0.5126:0.1513:0.3361	.	267	Q9UQV4	LAMP3_HUMAN	T	267;243	ENSP00000265598:A267T;ENSP00000418912:A243T	ENSP00000265598:A267T	A	-	1	0	LAMP3	184352946	0.000000	0.05858	0.005000	0.12908	0.460000	0.32559	-0.253000	0.08794	-0.102000	0.12197	-0.143000	0.13931	GCA		0.453	LAMP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350863.1			66	97	0	0	0	1	0	66	97					T	182870252	C	T	182870252	3	4	435	1	0	0	0	0	1	0	0	0	8619	768	27	1	467	1	LAMP3	3	182870252	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	2165444	182870252	15152178	2140	23065											
MCF2L2	23101	broad.mit.edu	37	chr3	182941898	182941898	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aacattaccccaaagtaggcGcagtcttgacactcttgcca	12	9	7	13	1	2	1	0	1	2	0	2	1	2	1	3	1	3	2	3	1	4	4	rs373401665		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:182941898G>A	ENST00000328913.3	-	19	2493	c.2196C>T	c.(2194-2196)tgC>tgT	p.C732C	MCF2L2_ENST00000473233.1_Silent_p.C732C	NM_015078.2	NP_055893	Q86YR7	MF2L2_HUMAN	MCF.2 cell line derived transforming sequence-like 2	732	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.						Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(25)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72	all_cancers(143;1.26e-12)|Ovarian(172;0.0355)		all cancers(12;3.35e-44)|Epithelial(37;6.48e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)			CAAAGTAGGCGCAGTCTTGAC	0.393													G|||	1	0.000199681	8e-04	0	5008	,	,		18458	0		0	False		,,,				2504	0					ENST00000328913.3																			0				breast(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(25)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72						c.(2194-2196)tgC>tgT		MCF.2 cell line derived transforming sequence-like 2		G		2,4404	4.2+/-10.8	0,2,2201	166	172	170		2196	-0.5	1	3		170	0,8600		0,0,4300	no	coding-synonymous	MCF2L2	NM_015078.2		0,2,6501	AA,AG,GG		0.0,0.0454,0.0154		732/1115	182941898	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	23101				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	g.chr3:182941898G>A	AB020668	CCDS3243.1	3q27	2012-07-24			ENSG00000053524	ENSG00000053524		"Rho guanine nucleotide exchange factors"	30319	protein-coding gene	gene with protein product							Standard	NM_015078		Approved	KIAA0861, ARHGEF22	uc003fli.1	Q86YR7	OTTHUMG00000158388	ENST00000328913.3:c.2196C>T	3.37:g.182941898G>A						MCF2L2_ENST00000473233.1_Silent_p.C732C	p.C732C	NM_015078.2	NP_055893.2	Q86YR7	MF2L2_HUMAN	all cancers(12;3.35e-44)|Epithelial(37;6.48e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)		19	2493	-	all_cancers(143;1.26e-12)|Ovarian(172;0.0355)		732			DH.		O94942|Q6P2B8|Q6ZVJ5|Q8N318	Silent	SNP	ENST00000328913.3	37	c.2196C>T	CCDS3243.1																																																																																				0.393	MCF2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350868.1	NM_015078		72	124	0	0	0	1	0	72	124					A	182941898	G	A	182941898	2	1	435	1	0	0	0	0	0	0	0	1	9380	1079	38	1		1	MCF2L2	3	182941898	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	71646	182941898	15080532	2141	23066											
MCF2L2	23101	broad.mit.edu	37	chr3	182946126	182946126	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cagaagttcagggttctcagCacacttttccaactctttta	10	14	6	11	0	3	1	2	0	2	1	5	1	4	1	1	1	2	3	1	1	3	6			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:182946126C>T	ENST00000328913.3	-	18	2371	c.2074G>A	c.(2074-2076)Gct>Act	p.A692T	MCF2L2_ENST00000473233.1_Missense_Mutation_p.A692T|MCF2L2_ENST00000447025.2_Missense_Mutation_p.A692T	NM_015078.2	NP_055893	Q86YR7	MF2L2_HUMAN	MCF.2 cell line derived transforming sequence-like 2	692	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.						Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(25)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72	all_cancers(143;1.26e-12)|Ovarian(172;0.0355)		all cancers(12;3.35e-44)|Epithelial(37;6.48e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)			GGGTTCTCAGCACACTTTTCC	0.323																																						ENST00000328913.3																			0				breast(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(25)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72						c.(2074-2076)Gct>Act		MCF.2 cell line derived transforming sequence-like 2							83	81	82					3																	182946126		2203	4300	6503	SO:0001583	missense	23101				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	g.chr3:182946126C>T	AB020668	CCDS3243.1	3q27	2012-07-24			ENSG00000053524	ENSG00000053524		"Rho guanine nucleotide exchange factors"	30319	protein-coding gene	gene with protein product							Standard	NM_015078		Approved	KIAA0861, ARHGEF22	uc003fli.1	Q86YR7	OTTHUMG00000158388	ENST00000328913.3:c.2074G>A	3.37:g.182946126C>T	ENSP00000328118:p.Ala692Thr					MCF2L2_ENST00000447025.2_Missense_Mutation_p.A692T|MCF2L2_ENST00000473233.1_Missense_Mutation_p.A692T	p.A692T	NM_015078.2	NP_055893.2	Q86YR7	MF2L2_HUMAN	all cancers(12;3.35e-44)|Epithelial(37;6.48e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)		18	2371	-	all_cancers(143;1.26e-12)|Ovarian(172;0.0355)		692			DH.		O94942|Q6P2B8|Q6ZVJ5|Q8N318	Missense_Mutation	SNP	ENST00000328913.3	37	c.2074G>A	CCDS3243.1	.	.	.	.	.	.	.	.	.	.	C	4.190	0.033996	0.08101	.	.	ENSG00000053524	ENST00000328913;ENST00000473233;ENST00000447025	T;T;T	0.62639	0.01;0.01;0.01	5.01	-0.305	0.12784	Dbl homology (DH) domain (5);	0.796130	0.11393	N	0.568605	T	0.33265	0.0857	N	0.04686	-0.185	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.17979	0.02;0.004	T	0.25117	-1.0141	10	0.07990	T	0.79	.	8.0305	0.30461	0.0:0.3885:0.0:0.6115	.	692;692	Q86YR7-2;Q86YR7	.;MF2L2_HUMAN	T	692	ENSP00000328118:A692T;ENSP00000420070:A692T;ENSP00000388190:A692T	ENSP00000328118:A692T	A	-	1	0	MCF2L2	184428820	0.010000	0.17322	0.066000	0.19879	0.978000	0.69477	0.060000	0.14342	0.034000	0.15491	0.563000	0.77884	GCT		0.323	MCF2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350868.1	NM_015078		4	65	0	0	0	1	0	4	65					T	182946126	C	T	182946126	3	4	435	1	0	0	0	0	1	0	0	0	9380	710	25	3	1322	3	MCF2L2	3	182946126	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	4228	182946126	15076304	2142	23067											
B3GNT5	84002	broad.mit.edu	37	chr3	182988041	182988041	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	actggcttgggaagatcaaaGgtacaatgatataattcagc	15	10	10	6	0	2	2	2	1	0	1	2	3	2	3	0	3	2	2	0	3	6	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:182988041G>T	ENST00000326505.3	+	2	985	c.455G>T	c.(454-456)aGg>aTg	p.R152M	MCF2L2_ENST00000473233.1_Intron|B3GNT5_ENST00000460419.1_Missense_Mutation_p.R152M|MCF2L2_ENST00000328913.3_Intron|MCF2L2_ENST00000447025.2_Intron|B3GNT5_ENST00000465010.1_Missense_Mutation_p.R152M	NM_032047.4	NP_114436.1	Q9BYG0	B3GN5_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 5	152					cellular protein metabolic process (GO:0044267)|central nervous system development (GO:0007417)|glycolipid biosynthetic process (GO:0009247)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein glycosylation (GO:0006486)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)	beta-galactosyl-N-acetylglucosaminylgalactosylglucosyl-ceramide beta-1,3-acetylglucosaminyltransferase activity (GO:0008457)|galactosyltransferase activity (GO:0008378)|lactosylceramide 1,3-N-acetyl-beta-D-glucosaminyltransferase activity (GO:0047256)|lipopolysaccharide N-acetylglucosaminyltransferase activity (GO:0008917)			endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	8	all_cancers(143;8.52e-13)|Ovarian(172;0.0355)		all cancers(12;4.52e-44)|Epithelial(37;8.82e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)			GAAGATCAAAGGTACAATGAT	0.383																																						ENST00000326505.3																			0				endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	8						c.(454-456)aGg>aTg		UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 5							56	54	55					3																	182988041		2203	4300	6503	SO:0001583	missense	84002				central nervous system development|glycolipid biosynthetic process|protein glycosylation	Golgi membrane|integral to membrane	beta-galactosyl-N-acetylglucosaminylgalactosylglucosyl-ceramide beta-1,3-acetylglucosaminyltransferase activity|galactosyltransferase activity	g.chr3:182988041G>T	AB045278	CCDS3244.1	3q28	2013-02-21			ENSG00000176597	ENSG00000176597	2.4.1.206	"Beta 3-glycosyltransferases"	15684	protein-coding gene	gene with protein product	"lactosylceramide 1,3-N-acetyl-beta-D-glucosaminyltransferase"	615333				11283017	Standard	XM_005247824		Approved	B3GN-T5, beta3Gn-T5	uc003flk.3	Q9BYG0	OTTHUMG00000158436	ENST00000326505.3:c.455G>T	3.37:g.182988041G>T	ENSP00000316173:p.Arg152Met					MCF2L2_ENST00000447025.2_Intron|MCF2L2_ENST00000473233.1_Intron|B3GNT5_ENST00000465010.1_Missense_Mutation_p.R152M|B3GNT5_ENST00000460419.1_Missense_Mutation_p.R152M|MCF2L2_ENST00000328913.3_Intron	p.R152M	NM_032047.4	NP_114436.1	Q9BYG0	B3GN5_HUMAN	all cancers(12;4.52e-44)|Epithelial(37;8.82e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)		2	985	+	all_cancers(143;8.52e-13)|Ovarian(172;0.0355)		152					D3DNS5|Q59FE3|Q7L9Z5|Q8WWP9	Missense_Mutation	SNP	ENST00000326505.3	37	c.455G>T	CCDS3244.1	.	.	.	.	.	.	.	.	.	.	G	1.032	-0.681527	0.03353	.	.	ENSG00000176597	ENST00000326505;ENST00000460419;ENST00000465010	T;T;T	0.42900	0.96;0.96;0.96	5.91	-1.36	0.09085	.	0.938103	0.09056	N	0.855083	T	0.19685	0.0473	N	0.12831	0.26	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.18681	-1.0329	10	0.38643	T	0.18	.	2.1232	0.03731	0.3856:0.0691:0.1782:0.367	.	152	Q9BYG0	B3GN5_HUMAN	M	152	ENSP00000316173:R152M;ENSP00000420778:R152M;ENSP00000417868:R152M	ENSP00000316173:R152M	R	+	2	0	B3GNT5	184470735	0.000000	0.05858	0.002000	0.10522	0.011000	0.07611	-0.585000	0.05794	-0.081000	0.12662	-1.350000	0.01237	AGG		0.383	B3GNT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351009.1	NM_032047		19	23	1	0	1.67942e-08	1	1.77343e-08	19	23					T	182988041	G	T	182988041	3	4	435	1	0	0	0	0	1	0	0	0	1260	1000	35	5	457	5	B3GNT5	3	182988041	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	41915	182988041	15034389	2143	23068											
MCF2L2	23101	broad.mit.edu	37	chr3	183056679	183056679	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gagatggacgaaggatgaatAtgagctgtaagtttcctgga	13	10	14	4	1	0	3	0	2	0	1	1	8	1	6	1	3	1	3	1	3	4	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:183056679A>G	ENST00000328913.3	-	5	692	c.395T>C	c.(394-396)aTa>aCa	p.I132T	MCF2L2_ENST00000473233.1_Missense_Mutation_p.I132T|MCF2L2_ENST00000414362.2_Missense_Mutation_p.I132T|MCF2L2_ENST00000447025.2_Missense_Mutation_p.I132T	NM_015078.2	NP_055893	Q86YR7	MF2L2_HUMAN	MCF.2 cell line derived transforming sequence-like 2	132	CRAL-TRIO. {ECO:0000255|PROSITE- ProRule:PRU00056}.						Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(25)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72	all_cancers(143;1.26e-12)|Ovarian(172;0.0355)		all cancers(12;3.35e-44)|Epithelial(37;6.48e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)			AAGGATGAATATGAGCTGTAA	0.423																																						ENST00000328913.3																			0				breast(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(25)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72						c.(394-396)aTa>aCa		MCF.2 cell line derived transforming sequence-like 2							114	107	110					3																	183056679		2203	4300	6503	SO:0001583	missense	23101				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	g.chr3:183056679A>G	AB020668	CCDS3243.1	3q27	2012-07-24			ENSG00000053524	ENSG00000053524		"Rho guanine nucleotide exchange factors"	30319	protein-coding gene	gene with protein product							Standard	NM_015078		Approved	KIAA0861, ARHGEF22	uc003fli.1	Q86YR7	OTTHUMG00000158388	ENST00000328913.3:c.395T>C	3.37:g.183056679A>G	ENSP00000328118:p.Ile132Thr					MCF2L2_ENST00000447025.2_Missense_Mutation_p.I132T|MCF2L2_ENST00000473233.1_Missense_Mutation_p.I132T|MCF2L2_ENST00000414362.2_Missense_Mutation_p.I132T	p.I132T	NM_015078.2	NP_055893.2	Q86YR7	MF2L2_HUMAN	all cancers(12;3.35e-44)|Epithelial(37;6.48e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)		5	692	-	all_cancers(143;1.26e-12)|Ovarian(172;0.0355)		132			CRAL-TRIO.		O94942|Q6P2B8|Q6ZVJ5|Q8N318	Missense_Mutation	SNP	ENST00000328913.3	37	c.395T>C	CCDS3243.1	.	.	.	.	.	.	.	.	.	.	A	14.47	2.544291	0.45280	.	.	ENSG00000053524	ENST00000328913;ENST00000473233;ENST00000447025;ENST00000414362;ENST00000482017	T;T;T;T;T	0.66638	-0.22;-0.22;-0.22;-0.22;-0.22	4.81	4.81	0.61882	Cellular retinaldehyde-binding/triple function, C-terminal (3);	0.131114	0.49916	D	0.000129	T	0.70133	0.3189	L	0.31065	0.9	0.23700	N	0.997072	P;P;P	0.42078	0.564;0.549;0.77	B;P;B	0.57009	0.391;0.811;0.422	T	0.65664	-0.6113	10	0.87932	D	0	.	14.0518	0.64742	1.0:0.0:0.0:0.0	.	132;132;132	Q86YR7-3;Q86YR7-2;Q86YR7	.;.;MF2L2_HUMAN	T	132;132;132;132;104	ENSP00000328118:I132T;ENSP00000420070:I132T;ENSP00000388190:I132T;ENSP00000414131:I132T;ENSP00000417345:I104T	ENSP00000328118:I132T	I	-	2	0	MCF2L2	184539373	0.994000	0.37717	0.740000	0.30986	0.609000	0.37215	6.992000	0.76238	1.814000	0.52955	0.533000	0.62120	ATA		0.423	MCF2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350868.1	NM_015078		16	20	0	0	0	1	0	16	20					G	183056679	A	G	183056679	3	3	435	1	0	0	0	0	1	0	0	0	9380	449	16	4	3053	4	MCF2L2	3	183056679	Missense_Mutation	SNP	A	TCGA-XK-AAIW-01A-11D-A41K-08	68638	183056679	14965751	2144	23069											
KLHL24	54800	broad.mit.edu	37	chr3	183368576	183368576	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tatctctttgagacatcaagCctctttcagattagtgttct	9	17	6	9	0	5	2	2	1	3	2	6	3	5	2	1	0	1	1	1	0	3	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:183368576C>T	ENST00000454652.2	+	4	818	c.432C>T	c.(430-432)agC>agT	p.S144S	KLHL24_ENST00000242810.6_Silent_p.S144S|KLHL24_ENST00000476808.1_Silent_p.S144S	NM_017644.3	NP_060114.2	Q6TFL4	KLH24_HUMAN	kelch-like family member 24	144						cell projection (GO:0042995)|cytoplasm (GO:0005737)				NS(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(10)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27	all_cancers(143;2.88e-10)|Ovarian(172;0.0303)		all cancers(12;1.43e-42)|Epithelial(37;1.73e-36)|OV - Ovarian serous cystadenocarcinoma(80;8.75e-22)			AGACATCAAGCCTCTTTCAGA	0.408																																						ENST00000454652.1																			0				NS(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(10)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						c.(430-432)agC>agT		kelch-like family member 24							167	150	156					3																	183368576		2203	4300	6503	SO:0001819	synonymous_variant	54800					axon|cytoplasm|perikaryon		g.chr3:183368576C>T		CCDS3246.1	3q27.1	2013-02-22	2013-02-22		ENSG00000114796	ENSG00000114796		"Kelch-like", "BTB/POZ domain containing"	25947	protein-coding gene	gene with protein product		611295	"kelch-like 24 (Drosophila)"				Standard	XM_005247552		Approved	DRE1, FLJ20059	uc003flv.3	Q6TFL4	OTTHUMG00000156911	ENST00000454652.2:c.432C>T	3.37:g.183368576C>T						KLHL24_ENST00000476808.1_Silent_p.S144S|KLHL24_ENST00000242810.6_Silent_p.S144S	p.S144S			Q6TFL4	KLH24_HUMAN	all cancers(12;1.43e-42)|Epithelial(37;1.73e-36)|OV - Ovarian serous cystadenocarcinoma(80;8.75e-22)		4	818	+	all_cancers(143;2.88e-10)|Ovarian(172;0.0303)		144					A5PLN8|Q9H620|Q9NXT9	Silent	SNP	ENST00000454652.2	37	c.432C>T	CCDS3246.1																																																																																				0.408	KLHL24-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346586.2	NM_017644		4	107	0	0	0	1	0	4	107					T	183368576	C	T	183368576	2	4	435	1	0	0	0	0	0	0	0	1	8379	738	26	3		3	KLHL24	3	183368576	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	311897	183368576	14653854	2145	23070											
YEATS2	55689	broad.mit.edu	37	chr3	183508767	183508767	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgggaaagccacagtatcCggtgagttgcattgtgatat	10	12	12	7	1	1	2	0	2	1	0	2	3	2	3	2	2	2	3	2	2	3	4	rs199646917		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:183508767C>T	ENST00000305135.5	+	21	3291	c.3096C>T	c.(3094-3096)tcC>tcT	p.S1032S		NM_018023.4	NP_060493.3	Q9ULM3	YETS2_HUMAN	YEATS domain containing 2	1032					chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|mitotic spindle (GO:0072686)	TBP-class protein binding (GO:0017025)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(24)|ovary(3)|prostate(2)|skin(3)	49	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		all cancers(12;2.38e-42)|Epithelial(37;1.9e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			CCACAGTATCCGGTGAGTTGC	0.522																																						ENST00000305135.5																			0				NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(24)|ovary(3)|prostate(2)|skin(3)	49						c.e21+1		YEATS domain containing 2		C		0,3992		0,0,1996	96	102	100		3096	0	1	3		100	1,8353		0,1,4176	yes	coding-synonymous-near-splice	YEATS2	NM_018023.4		0,1,6172	TT,TC,CC		0.012,0.0,0.0081		1032/1423	183508767	1,12345	1996	4177	6173	SO:0001630	splice_region_variant	55689				histone H3 acetylation|negative regulation of transcription from RNA polymerase II promoter	Ada2/Gcn5/Ada3 transcription activator complex	TBP-class protein binding	g.chr3:183508767C>T	AB033023	CCDS43175.1	3q27.3	2004-08-18			ENSG00000163872	ENSG00000163872			25489	protein-coding gene	gene with protein product		613373				10574462	Standard	NM_018023		Approved	FLJ10201, FLJ12841, FLJ13308, KIAA1197	uc003fly.2	Q9ULM3	OTTHUMG00000156898	ENST00000305135.5:c.3097+1C>T	3.37:g.183508767C>T							p.S1032_splice	NM_018023.4	NP_060493.3	Q9ULM3	YETS2_HUMAN	all cancers(12;2.38e-42)|Epithelial(37;1.9e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)		21	3291	+	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		1032					A7E2B9|D3DNS9|Q641P6|Q9NW96	Splice_Site	SNP	ENST00000305135.5	37	c.3097_splice	CCDS43175.1	.	.	.	.	.	.	.	.	.	.	C	3.538	-0.094350	0.07053	0.0	1.2E-4	ENSG00000163872	ENST00000432781	.	.	.	5.33	-0.0216	0.13951	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-14.5804	2.5681	0.04788	0.5448:0.1324:0.0703:0.2525	.	.	.	.	X	218	.	.	R	+	1	2	YEATS2	184991461	1.000000	0.71417	0.979000	0.43373	0.182000	0.23217	0.843000	0.27640	-0.225000	0.09913	-1.302000	0.01329	CGA		0.522	YEATS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346507.2	NM_018023	Silent	7	56	0	0	0	1	0	7	56					T	183508767	C	T	183508767	5	4	435	1	0	0	0	0	0	0	1	0	17469	666	23	2	3174	2	YEATS2	3	183508767	Splice_Site	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	140191	183508767	14513663	2146	23071											
ABCC5	10057	broad.mit.edu	37	chr3	183689508	183689508	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcaccgcctgatgctcagtgCgctgcagctgcctcaccttc	5	9	10	17	2	2	1	2	1	0	0	3	1	2	1	4	0	5	5	4	0	0	1	rs550542220		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:183689508C>T	ENST00000334444.6	-	11	1844	c.1604G>A	c.(1603-1605)cGc>cAc	p.R535H	ABCC5_ENST00000265586.6_Missense_Mutation_p.R535H	NM_005688.2	NP_005679.2	O15440	MRP5_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 5	535					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan biosynthetic process (GO:0030213)|hyaluronan metabolic process (GO:0030212)|organic anion transport (GO:0015711)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)	p.R535L(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)		Adefovir Dipivoxil(DB00718)|Alprostadil(DB00770)|Atorvastatin(DB01076)|Cisplatin(DB00515)|Dinoprostone(DB00917)|Dipyridamole(DB00975)|Fluorouracil(DB00544)|Glutathione(DB00143)|Mercaptopurine(DB01033)|Probenecid(DB01032)|Rifampicin(DB01045)|Sildenafil(DB00203)|Sulfinpyrazone(DB01138)|Zidovudine(DB00495)	ATGCTCAGTGCGCTGCAGCTG	0.582													C|||	1	0.000199681	0	0.0014	5008	,	,		16459	0		0	False		,,,				2504	0					ENST00000334444.6																			1	Substitution - Missense(1)	p.R535L(1)	lung(1)	NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						c.(1603-1605)cGc>cAc		ATP-binding cassette, sub-family C (CFTR/MRP), member 5							80	84	83					3																	183689508		2083	4221	6304	SO:0001583	missense	10057					integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity	g.chr3:183689508C>T	AF104942	CCDS33898.1, CCDS43176.1	3q27	2012-03-14			ENSG00000114770	ENSG00000114770		"ATP binding cassette transporters / subfamily C"	56	protein-coding gene	gene with protein product		605251				8894702, 9827529	Standard	XM_005247058		Approved	MRP5, SMRP, EST277145, MOAT-C	uc003fmg.3	O15440	OTTHUMG00000156871	ENST00000334444.6:c.1604G>A	3.37:g.183689508C>T	ENSP00000333926:p.Arg535His					ABCC5_ENST00000265586.6_Missense_Mutation_p.R535H	p.R535H	NM_005688.2	NP_005679.2	O15440	MRP5_HUMAN	Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)		11	1844	-	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		535					B9EIQ2|O14517|Q29ZA9|Q29ZB1|Q86UX3|Q86W30|Q9UN85|Q9UNP5|Q9UQC3	Missense_Mutation	SNP	ENST00000334444.6	37	c.1604G>A	CCDS43176.1	.	.	.	.	.	.	.	.	.	.	C	11.48	1.651538	0.29336	.	.	ENSG00000114770	ENST00000334444;ENST00000382495;ENST00000265586	D;D	0.91792	-2.71;-2.91	5.56	-2.5	0.06384	ABC transporter, transmembrane domain, type 1 (1);	0.864225	0.10581	N	0.657898	T	0.79857	0.4518	N	0.08118	0	0.09310	N	1	B;B	0.09022	0.002;0.0	B;B	0.08055	0.003;0.0	T	0.65602	-0.6128	10	0.33141	T	0.24	0.2068	7.938	0.29941	0.0:0.3277:0.1129:0.5593	.	535;535	Q86UX3;O15440	.;MRP5_HUMAN	H	535;471;535	ENSP00000333926:R535H;ENSP00000265586:R535H	ENSP00000265586:R535H	R	-	2	0	ABCC5	185172202	0.009000	0.17119	0.209000	0.23619	0.924000	0.55760	-0.044000	0.12023	-0.307000	0.08804	0.655000	0.94253	CGC		0.582	ABCC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346350.1	NM_005688		6	34	0	0	0	1	0	6	34					T	183689508	C	T	183689508	3	4	435	1	0	0	0	0	1	0	0	0	56	768	27	1	2789	1	ABCC5	3	183689508	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	180741	183689508	14332922	2147	23072											
ABCC5	10057	broad.mit.edu	37	chr3	183696309	183696309	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	acctgtgctgctgtcagatcGaagcccagggtcatatgaac	10	9	11	11	1	2	2	2	1	0	1	3	3	2	2	2	1	4	2	2	1	3	1	rs375709303		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:183696309G>A	ENST00000334444.6	-	9	1518	c.1278C>T	c.(1276-1278)ttC>ttT	p.F426F	ABCC5_ENST00000265586.6_Silent_p.F426F|ABCC5_ENST00000492216.1_5'UTR	NM_005688.2	NP_005679.2	O15440	MRP5_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 5	426	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan biosynthetic process (GO:0030213)|hyaluronan metabolic process (GO:0030212)|organic anion transport (GO:0015711)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)		Adefovir Dipivoxil(DB00718)|Alprostadil(DB00770)|Atorvastatin(DB01076)|Cisplatin(DB00515)|Dinoprostone(DB00917)|Dipyridamole(DB00975)|Fluorouracil(DB00544)|Glutathione(DB00143)|Mercaptopurine(DB01033)|Probenecid(DB01032)|Rifampicin(DB01045)|Sildenafil(DB00203)|Sulfinpyrazone(DB01138)|Zidovudine(DB00495)	CTGTCAGATCGAAGCCCAGGG	0.517																																						ENST00000334444.6																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						c.(1276-1278)ttC>ttT		ATP-binding cassette, sub-family C (CFTR/MRP), member 5		G		0,4128		0,0,2064	85	95	92		1278	1.8	1	3		92	1,8435		0,1,4217	no	coding-synonymous	ABCC5	NM_005688.2		0,1,6281	AA,AG,GG		0.0119,0.0,0.0080		426/1438	183696309	1,12563	2064	4218	6282	SO:0001819	synonymous_variant	10057					integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity	g.chr3:183696309G>A	AF104942	CCDS33898.1, CCDS43176.1	3q27	2012-03-14			ENSG00000114770	ENSG00000114770		"ATP binding cassette transporters / subfamily C"	56	protein-coding gene	gene with protein product		605251				8894702, 9827529	Standard	XM_005247058		Approved	MRP5, SMRP, EST277145, MOAT-C	uc003fmg.3	O15440	OTTHUMG00000156871	ENST00000334444.6:c.1278C>T	3.37:g.183696309G>A						ABCC5_ENST00000265586.6_Silent_p.F426F|ABCC5_ENST00000492216.1_5'UTR	p.F426F	NM_005688.2	NP_005679.2	O15440	MRP5_HUMAN	Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)		9	1518	-	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		426			ABC transmembrane type-1 1.		B9EIQ2|O14517|Q29ZA9|Q29ZB1|Q86UX3|Q86W30|Q9UN85|Q9UNP5|Q9UQC3	Silent	SNP	ENST00000334444.6	37	c.1278C>T	CCDS43176.1																																																																																				0.517	ABCC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346350.1	NM_005688		8	33	0	0	0	1	0	8	33					A	183696309	G	A	183696309	2	1	435	1	0	0	0	0	0	0	0	1	56	1049	37	2		2	ABCC5	3	183696309	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	6801	183696309	14326121	2148	23073											
ABCC5	10057	broad.mit.edu	37	chr3	183703152	183703152	+	Intron	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cattctgaccgcagaatacaGccatcctgaaaattctaaag	15	9	6	11	1	2	3	0	2	2	1	3	3	3	3	3	0	2	1	3	0	6	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:183703152G>A	ENST00000334444.6	-	6	832				ABCC5_ENST00000382494.2_Silent_p.G202G|ABCC5_ENST00000392579.2_Intron|ABCC5_ENST00000265586.6_Intron|ABCC5_ENST00000427120.2_3'UTR|ABCC5_ENST00000492216.1_5'Flank	NM_005688.2	NP_005679.2	O15440	MRP5_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 5						carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan biosynthetic process (GO:0030213)|hyaluronan metabolic process (GO:0030212)|organic anion transport (GO:0015711)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)		Adefovir Dipivoxil(DB00718)|Alprostadil(DB00770)|Atorvastatin(DB01076)|Cisplatin(DB00515)|Dinoprostone(DB00917)|Dipyridamole(DB00975)|Fluorouracil(DB00544)|Glutathione(DB00143)|Mercaptopurine(DB01033)|Probenecid(DB01032)|Rifampicin(DB01045)|Sildenafil(DB00203)|Sulfinpyrazone(DB01138)|Zidovudine(DB00495)	GCAGAATACAGCCATCCTGAA	0.488																																						ENST00000382494.2																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						c.(604-606)ggC>ggT		ATP-binding cassette, sub-family C (CFTR/MRP), member 5							141	146	144					3																	183703152		2203	4300	6503	SO:0001627	intron_variant	10057					integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity	g.chr3:183703152G>A	AF104942	CCDS33898.1, CCDS43176.1	3q27	2012-03-14			ENSG00000114770	ENSG00000114770		"ATP binding cassette transporters / subfamily C"	56	protein-coding gene	gene with protein product		605251				8894702, 9827529	Standard	XM_005247058		Approved	MRP5, SMRP, EST277145, MOAT-C	uc003fmg.3	O15440	OTTHUMG00000156871	ENST00000334444.6:c.592-2357C>T	3.37:g.183703152G>A						ABCC5_ENST00000334444.6_Intron|ABCC5_ENST00000265586.6_Intron|ABCC5_ENST00000392579.2_Intron|ABCC5_ENST00000427120.2_3'UTR	p.G202G	NM_001023587.1	NP_001018881.1	O15440	MRP5_HUMAN	Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)		6	720	-	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		0			ABC transmembrane type-1 1.		B9EIQ2|O14517|Q29ZA9|Q29ZB1|Q86UX3|Q86W30|Q9UN85|Q9UNP5|Q9UQC3	Silent	SNP	ENST00000334444.6	37	c.606C>T	CCDS43176.1																																																																																				0.488	ABCC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346350.1	NM_005688		35	64	0	0	0	1	0	35	64					A	183703152	G	A	183703152	1	1	435	0	1	0	0	0	0	0	0	0	56	958	34	3		3	ABCC5	3	183703152	Intron	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	6843	183703152	14319278	2149	23074											
HTR3C	170572	broad.mit.edu	37	chr3	183772516	183772516	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgctctctataggaagaggCgacgcttttaccatcaattg	10	12	9	10	2	2	1	1	0	1	1	3	3	2	2	1	2	2	2	1	2	5	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:183772516C>T	ENST00000318351.1	+	2	109	c.75C>T	c.(73-75)ggC>ggT	p.G25G		NM_130770.2	NP_570126.2	Q8WXA8	5HT3C_HUMAN	5-hydroxytryptamine (serotonin) receptor 3C, ionotropic	25					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	extracellular ligand-gated ion channel activity (GO:0005230)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(2)	32	all_cancers(143;2.33e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)		Ergoloid mesylate(DB01049)	TAGGAAGAGGCGACGCTTTTA	0.512																																						ENST00000318351.1																			0				central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(2)	32						c.(73-75)ggC>ggT		5-hydroxytryptamine (serotonin) receptor 3C, ionotropic							111	106	108					3																	183772516		2203	4300	6503	SO:0001819	synonymous_variant	170572					integral to membrane|plasma membrane|postsynaptic membrane	extracellular ligand-gated ion channel activity|receptor activity	g.chr3:183772516C>T	AF459285	CCDS3250.1	3q27	2012-05-22	2012-02-03		ENSG00000178084	ENSG00000178084		"5-HT (serotonin) receptors", "Ligand-gated ion channels / 5-HT (serotonin) receptors, ionotropic"	24003	protein-coding gene	gene with protein product		610121	"5-hydroxytryptamine (serotonin) receptor 3, family member C"			12801637, 15157181	Standard	NM_130770		Approved		uc003fmk.3	Q8WXA8	OTTHUMG00000156862	ENST00000318351.1:c.75C>T	3.37:g.183772516C>T							p.G25G	NM_130770.2	NP_570126.2	Q8WXA8	5HT3C_HUMAN	Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)		2	109	+	all_cancers(143;2.33e-10)|Ovarian(172;0.0303)		25					A2RRR5	Silent	SNP	ENST00000318351.1	37	c.75C>T	CCDS3250.1																																																																																				0.512	HTR3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346296.1	NM_130770		26	40	0	0	0	1	0	26	40					T	183772516	C	T	183772516	2	4	435	1	0	0	0	0	0	0	0	1	7446	755	27	1		1	HTR3C	3	183772516	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	69364	183772516	14249914	2150	23075											
ECE2	9718	broad.mit.edu	37	chr3	183976188	183976188	+	Intron	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tggctggtccctgaggcatgCtacctatggcagcggtttcc	5	11	13	12	1	0	1	0	1	0	0	2	1	2	1	3	5	3	5	3	5	2	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:183976188C>T	ENST00000402825.3	+	2	480				ECE2_ENST00000324557.4_Missense_Mutation_p.A198V|EIF2B5_ENST00000444495.1_Intron	NM_014693.3	NP_055508.3	O60344	ECE2_HUMAN	endothelin converting enzyme 2						brain development (GO:0007420)|cardioblast differentiation (GO:0010002)|cell-cell signaling (GO:0007267)|heart development (GO:0007507)|peptide hormone processing (GO:0016486)	cytoplasmic vesicle membrane (GO:0030659)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)|methyltransferase activity (GO:0008168)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(13)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(4)	49	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			CTGAGGCATGCTACCTATGGC	0.582																																						ENST00000324557.4																			0				breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(13)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(4)	49						c.(592-594)gCt>gTt		endothelin converting enzyme 2							129	125	126					3																	183976188		2203	4300	6503	SO:0001627	intron_variant	9718				brain development|cardioblast differentiation|cell-cell signaling|peptide hormone processing	cytoplasmic vesicle membrane|Golgi membrane|integral to membrane	metal ion binding|metalloendopeptidase activity|methyltransferase activity	g.chr3:183976188C>T	AF428263	CCDS3255.1, CCDS33899.1, CCDS3256.2, CCDS43179.1, CCDS46969.1	3q27.1	2007-07-26			ENSG00000145194	ENSG00000145194			13275	protein-coding gene	gene with protein product		610145				11718899	Standard	NM_032331		Approved	KIAA0604, MGC2408	uc003fni.4	O60344	OTTHUMG00000150551	ENST00000402825.3:c.480+644C>T	3.37:g.183976188C>T						EIF2B5_ENST00000444495.1_Intron|ECE2_ENST00000402825.3_Intron	p.A198V	NM_032331.3	NP_115707.2	O60344	ECE2_HUMAN	Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		3	638	+	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		0					A5PLK8|Q6NTG7|Q6UW36|Q8NFD7|Q96NX3|Q96NX4|Q9BRZ8	Missense_Mutation	SNP	ENST00000402825.3	37	c.593C>T	CCDS3256.2	.	.	.	.	.	.	.	.	.	.	C	8.773	0.926460	0.18056	.	.	ENSG00000145194	ENST00000324557	T	0.17691	2.26	5.13	4.26	0.50523	.	.	.	.	.	T	0.09468	0.0233	.	.	.	0.80722	D	1	B	0.27853	0.191	B	0.17722	0.019	T	0.20306	-1.0279	8	0.17369	T	0.5	.	7.8975	0.29715	0.1578:0.76:0.0:0.0822	.	198	O60344-4	.	V	198	ENSP00000314295:A198V	ENSP00000314295:A198V	A	+	2	0	ECE2	185458882	0.000000	0.05858	0.998000	0.56505	0.877000	0.50540	0.753000	0.26376	1.389000	0.46526	0.655000	0.94253	GCT		0.582	ECE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318874.3	NM_014693		40	75	0	0	0	1	0	40	75					T	183976188	C	T	183976188	1	4	435	0	1	0	0	0	0	0	0	0	4890	797	28	3		3	ECE2	3	183976188	Intron	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	203672	183976188	14046242	2151	23076											
EIF4G1	1981	broad.mit.edu	37	chr3	184045675	184045675	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccttgctcttcatctttgtaCggcatggtgtcgagtctacg	5	15	10	11	3	4	0	1	0	3	0	5	1	4	0	1	2	3	3	1	2	2	5	rs376228156		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:184045675C>T	ENST00000346169.2	+	26	4109	c.3838C>T	c.(3838-3840)Cgg>Tgg	p.R1280W	EIF4G1_ENST00000392537.2_Missense_Mutation_p.R1193W|EIF4G1_ENST00000435046.2_Missense_Mutation_p.R1084W|EIF4G1_ENST00000427845.1_Missense_Mutation_p.R1194W|EIF4G1_ENST00000352767.3_Missense_Mutation_p.R1287W|EIF4G1_ENST00000319274.6_Missense_Mutation_p.R1280W|EIF4G1_ENST00000382330.3_Missense_Mutation_p.R1287W|EIF4G1_ENST00000350481.5_Missense_Mutation_p.R1116W|EIF4G1_ENST00000424196.1_Missense_Mutation_p.R1287W|EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000434061.2_Missense_Mutation_p.R1085W|EIF4G1_ENST00000441154.1_Missense_Mutation_p.R1117W|EIF4G1_ENST00000411531.1_Missense_Mutation_p.R1241W|EIF4G1_ENST00000342981.4_Missense_Mutation_p.R1281W|SNORD66_ENST00000390856.1_RNA|EIF4G1_ENST00000414031.1_Missense_Mutation_p.R1240W	NM_198241.2	NP_937884	Q04637	IF4G1_HUMAN	eukaryotic translation initiation factor 4 gamma, 1	1280	MI. {ECO:0000255|PROSITE- ProRule:PRU00698}.				cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|cytokine-mediated signaling pathway (GO:0019221)|gene expression (GO:0010467)|insulin receptor signaling pathway (GO:0008286)|lung development (GO:0030324)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|regulation of translational initiation (GO:0006446)|response to ethanol (GO:0045471)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational initiation (GO:0006413)|viral process (GO:0016032)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	75	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			CATCTTTGTACGGCATGGTGT	0.602																																						ENST00000342981.4																			0				central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	75						c.(3841-3843)Cgg>Tgg		eukaryotic translation initiation factor 4 gamma, 1		C	TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG	0,4406		0,0,2203	96	80	85		3859,3859,3253,3841,3838,3346,3577	6.2	1	3		85	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense,missense,missense,missense	EIF4G1	NM_001194946.1,NM_001194947.1,NM_004953.4,NM_182917.4,NM_198241.2,NM_198242.2,NM_198244.2	101,101,101,101,101,101,101	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	1287/1607,1287/1607,1085/1405,1281/1601,1280/1600,1116/1436,1193/1513	184045675	1,13005	2203	4300	6503	SO:0001583	missense	1981				insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity	g.chr3:184045675C>T	D12686	CCDS3259.1, CCDS3260.1, CCDS3261.1, CCDS46970.1, CCDS46970.2, CCDS54687.1, CCDS54688.1	3q27.1	2013-09-19			ENSG00000114867	ENSG00000114867		"Parkinson disease"	3296	protein-coding gene	gene with protein product		600495		EIF4G, EIF4F		1429670, 9372926, 21907011	Standard	NM_182917		Approved	p220, PARK18	uc010hxy.3	Q04637	OTTHUMG00000156784	ENST00000346169.2:c.3838C>T	3.37:g.184045675C>T	ENSP00000316879:p.Arg1280Trp					EIF4G1_ENST00000350481.5_Missense_Mutation_p.R1116W|EIF4G1_ENST00000352767.3_Missense_Mutation_p.R1287W|EIF4G1_ENST00000435046.2_Missense_Mutation_p.R1084W|EIF4G1_ENST00000427845.1_Missense_Mutation_p.R1194W|EIF4G1_ENST00000424196.1_Missense_Mutation_p.R1287W|EIF4G1_ENST00000414031.1_Missense_Mutation_p.R1240W|EIF4G1_ENST00000411531.1_Missense_Mutation_p.R1241W|EIF4G1_ENST00000346169.2_Missense_Mutation_p.R1280W|EIF4G1_ENST00000392537.2_Missense_Mutation_p.R1193W|EIF4G1_ENST00000441154.1_Missense_Mutation_p.R1117W|EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000434061.2_Missense_Mutation_p.R1085W|EIF4G1_ENST00000382330.3_Missense_Mutation_p.R1287W|EIF4G1_ENST00000319274.6_Missense_Mutation_p.R1280W	p.R1281W	NM_182917.4	NP_886553.3	Q04637	IF4G1_HUMAN	Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		25	4255	+	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		1280			MI.		D3DNT2|D3DNT4|D3DNT5|E9PFM1|G5E9S1|O43177|O95066|Q5HYG0|Q6ZN21|Q8N102	Missense_Mutation	SNP	ENST00000346169.2	37	c.3841C>T	CCDS3259.1	.	.	.	.	.	.	.	.	.	.	C	31	5.062272	0.93846	0.0	1.16E-4	ENSG00000114867	ENST00000346169;ENST00000414031;ENST00000392537;ENST00000382330;ENST00000350481;ENST00000352767;ENST00000427845;ENST00000342981;ENST00000319274;ENST00000424196;ENST00000411531;ENST00000441154;ENST00000434061;ENST00000435046	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.33865	1.39;1.39;1.39;1.39;1.39;1.39;1.39;1.39;1.39;1.39;1.39;1.39;1.39;1.39	6.17	6.17	0.99709	Initiation factor eIF-4 gamma, MA3 (3);Armadillo-type fold (1);	0.113022	0.64402	D	0.000010	T	0.63827	0.2544	M	0.80982	2.52	0.58432	D	0.999998	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.63192	0.912;0.912;0.912	T	0.64546	-0.6382	10	0.72032	D	0.01	-15.5076	20.8794	0.99867	0.0:1.0:0.0:0.0	.	1287;1281;1280	E9PFM1;D3DNT2;Q04637	.;.;IF4G1_HUMAN	W	1280;1240;1193;1287;1116;1287;1194;1281;1280;1287;1241;1117;1085;1084	ENSP00000316879:R1280W;ENSP00000391935:R1240W;ENSP00000376320:R1193W;ENSP00000371767:R1287W;ENSP00000317600:R1116W;ENSP00000338020:R1287W;ENSP00000407682:R1194W;ENSP00000343450:R1281W;ENSP00000323737:R1280W;ENSP00000416255:R1287W;ENSP00000395974:R1241W;ENSP00000399858:R1117W;ENSP00000411826:R1085W;ENSP00000404754:R1084W	ENSP00000323737:R1280W	R	+	1	2	EIF4G1	185528369	1.000000	0.71417	0.996000	0.52242	0.993000	0.82548	4.673000	0.61604	2.941000	0.99782	0.655000	0.94253	CGG		0.602	EIF4G1-007	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000345733.1	NM_182917		19	35	0	0	0	1	0	19	35					T	184045675	C	T	184045675	3	4	435	1	0	0	0	0	1	0	0	0	5036	527	19	1	3932	1	EIF4G1	3	184045675	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	69487	184045675	13976755	2152	23077											
CLCN2	1181	broad.mit.edu	37	chr3	184075770	184075770	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctttgccaagcggcatccCgctgcctagggcgcaggtca	6	8	12	15	3	2	0	1	0	1	0	3	0	3	0	3	3	3	3	3	3	2	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:184075770C>T	ENST00000265593.4	-	5	766	c.595G>A	c.(595-597)Ggg>Agg	p.G199R	CLCN2_ENST00000457512.1_Missense_Mutation_p.G199R|CLCN2_ENST00000423355.2_5'UTR|CLCN2_ENST00000434054.2_Missense_Mutation_p.G155R|EIF2B5_ENST00000444495.1_Intron|CLCN2_ENST00000344937.7_Missense_Mutation_p.G199R|CLCN2_ENST00000475279.1_5'Flank	NM_004366.5	NP_004357.3	P51788	CLCN2_HUMAN	chloride channel, voltage-sensitive 2	199			G -> A (no effect). {ECO:0000269|PubMed:17762171}.		cell differentiation involved in salivary gland development (GO:0060689)|ion transmembrane transport (GO:0034220)|regulation of anion transport (GO:0044070)|retina development in camera-type eye (GO:0060041)|transmembrane transport (GO:0055085)|transport (GO:0006810)	chloride channel complex (GO:0034707)|plasma membrane (GO:0005886)	adenyl nucleotide binding (GO:0030554)|voltage-gated chloride channel activity (GO:0005247)			breast(2)|central_nervous_system(4)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	27	all_cancers(143;6.66e-11)|Ovarian(172;0.0339)		Epithelial(37;2.22e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		Lubiprostone(DB01046)	AGCGGCATCCCGCTGCCTAGG	0.592																																						ENST00000265593.4																			0				breast(2)|central_nervous_system(4)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	27						c.(595-597)Ggg>Agg		chloride channel, voltage-sensitive 2	Lubiprostone(DB01046)						58	56	57					3																	184075770		2203	4300	6503	SO:0001583	missense	1181					chloride channel complex	voltage-gated chloride channel activity	g.chr3:184075770C>T	S77770	CCDS3263.1, CCDS54690.1, CCDS54691.1, CCDS54692.1	3q27.1	2013-09-19	2012-02-23		ENSG00000114859	ENSG00000114859		"Ion channels / Chloride channels : Voltage-sensitive"	2020	protein-coding gene	gene with protein product		600570	"chloride channel 2"			7795595	Standard	NM_004366		Approved	CLC2, EJM6, ClC-2	uc003foi.4	P51788	OTTHUMG00000156747	ENST00000265593.4:c.595G>A	3.37:g.184075770C>T	ENSP00000265593:p.Gly199Arg					CLCN2_ENST00000434054.2_Missense_Mutation_p.G155R|CLCN2_ENST00000423355.2_5'UTR|EIF2B5_ENST00000444495.1_Intron|CLCN2_ENST00000344937.7_Missense_Mutation_p.G199R|CLCN2_ENST00000457512.1_Missense_Mutation_p.G199R	p.G199R	NM_004366.5	NP_004357.3	P51788	CLCN2_HUMAN	Epithelial(37;2.22e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		5	766	-	all_cancers(143;6.66e-11)|Ovarian(172;0.0339)		199		G -> A (no effect).			B4DQT9|B4DZ58|E9PBD9|E9PCD2|O14864|Q6IPA9|Q8WU13	Missense_Mutation	SNP	ENST00000265593.4	37	c.595G>A	CCDS3263.1	.	.	.	.	.	.	.	.	.	.	c	18.30	3.593853	0.66219	.	.	ENSG00000114859	ENST00000265593;ENST00000344937;ENST00000434054;ENST00000457512	D;D;D;D	0.99695	-6.43;-6.43;-6.43;-6.43	4.58	4.58	0.56647	Chloride channel, core (2);	0.056908	0.64402	D	0.000001	D	0.99782	0.9909	H	0.96208	3.785	0.80722	D	1	D;D;D;P;D	0.69078	0.995;0.994;0.995;0.934;0.997	P;P;D;P;D	0.63703	0.841;0.821;0.917;0.607;0.917	D	0.97015	0.9739	10	0.66056	D	0.02	-21.0286	16.3077	0.82855	0.0:1.0:0.0:0.0	.	199;155;199;199;199	B4DYE3;E9PBD9;E9PCD2;P51788-3;P51788	.;.;.;.;CLCN2_HUMAN	R	199;199;155;199	ENSP00000265593:G199R;ENSP00000345056:G199R;ENSP00000400425:G155R;ENSP00000391928:G199R	ENSP00000265593:G199R	G	-	1	0	CLCN2	185558464	0.998000	0.40836	0.948000	0.38648	0.728000	0.41692	3.892000	0.56235	2.378000	0.81104	0.561000	0.74099	GGG		0.592	CLCN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000345571.1			13	27	0	0	0	1	0	13	27					T	184075770	C	T	184075770	3	4	435	1	0	0	0	0	1	0	0	0	3463	652	23	2	2181	2	CLCN2	3	184075770	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	30095	184075770	13946660	2153	23078											
THPO	7066	broad.mit.edu	37	chr3	184090552	184090552	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctgaggaaatgtccggggCtcctagggtcctgcgtgagg	6	9	16	10	2	0	2	0	2	0	0	4	3	4	3	4	5	1	1	4	5	2	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:184090552C>T	ENST00000204615.7	-	6	1025	c.811G>A	c.(811-813)Gcc>Acc	p.A271T	THPO_ENST00000445696.2_Missense_Mutation_p.A267T|THPO_ENST00000421442.2_Missense_Mutation_p.S232N|THPO_ENST00000477594.1_5'Flank|EIF2B5_ENST00000444495.1_Intron	NM_000460.2|NM_001177597.1|NM_001177598.1	NP_000451.1|NP_001171068.1|NP_001171069.1	P40225	TPO_HUMAN	thrombopoietin	271					blood coagulation (GO:0007596)|cell proliferation (GO:0008283)|multicellular organismal development (GO:0007275)|myeloid cell differentiation (GO:0030099)|platelet activation (GO:0030168)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of megakaryocyte differentiation (GO:0045654)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|thrombopoietin-mediated signaling pathway (GO:0038163)	extracellular space (GO:0005615)	growth factor activity (GO:0008083)			NS(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)	16	all_cancers(143;6.33e-11)|Ovarian(172;0.0339)		Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			ATGTCCGGGGCTCCTAGGGTC	0.562																																						ENST00000204615.7																			0				NS(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)	16						c.(811-813)Gcc>Acc		thrombopoietin							171	181	178					3																	184090552		2203	4300	6503	SO:0001583	missense	7066				cell proliferation|platelet activation	extracellular space	cytokine activity|growth factor activity|hormone activity	g.chr3:184090552C>T		CCDS3265.1, CCDS54693.1	3q27	2014-01-30	2008-07-31		ENSG00000090534	ENSG00000090534		"Endogenous ligands"	11795	protein-coding gene	gene with protein product	"prepro-thrombopoietin", "megakaryocyte stimulating factor", "myeloproliferative leukemia virus oncogene ligand", "megakaryocyte growth and development factor", "MPL ligand", "megakaryocyte colony-stimulating factor", "c-mpl ligand", "thrombopoietin nirs variant 1"	600044		MGDF		8202154	Standard	XM_006713738		Approved	TPO, MPLLG	uc003fol.1	P40225	OTTHUMG00000156745	ENST00000204615.7:c.811G>A	3.37:g.184090552C>T	ENSP00000204615:p.Ala271Thr					THPO_ENST00000445696.2_Missense_Mutation_p.A267T|THPO_ENST00000421442.2_Missense_Mutation_p.S232N|EIF2B5_ENST00000444495.1_Intron	p.A271T	NM_000460.2|NM_001177597.1|NM_001177598.1	NP_000451.1|NP_001171068.1|NP_001171069.1	P40225	TPO_HUMAN	Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		6	1025	-	all_cancers(143;6.33e-11)|Ovarian(172;0.0339)		271					A1L3Y0|B7ZLR8|B9EGA8|Q13020|Q15790|Q15791|Q15792	Missense_Mutation	SNP	ENST00000204615.7	37	c.811G>A	CCDS3265.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	8.141|8.141	0.785288|0.785288	0.16189|0.16189	.|.	.|.	ENSG00000090534|ENSG00000090534	ENST00000204615;ENST00000445696;ENST00000353488|ENST00000421442	T;T|T	0.36878|0.37752	1.23;1.24|1.18	4.35|4.35	2.38|2.38	0.29361|0.29361	Four-helical cytokine, core (1);|.	0.576010|.	0.15759|.	N|.	0.246018|.	T|T	0.23846|0.23846	0.0577|0.0577	L|L	0.29908|0.29908	0.895|0.895	0.09310|0.09310	N|N	1|1	B;B|B	0.14438|0.09022	0.01;0.006|0.002	B;B|B	0.12156|0.08055	0.007;0.003|0.003	T|T	0.15350|0.15350	-1.0440|-1.0440	10|9	0.87932|0.42905	D|T	0|0.14	-21.3297|-21.3297	5.552|5.552	0.17095|0.17095	0.0:0.7404:0.0:0.2596|0.0:0.7404:0.0:0.2596	.|.	267;271|232	P40225-2;P40225|F8W6L1	.;TPO_HUMAN|.	T|N	271;267;232|232	ENSP00000204615:A271T;ENSP00000410763:A267T|ENSP00000411704:S232N	ENSP00000204615:A271T|ENSP00000411704:S232N	A|S	-|-	1|2	0|0	THPO|THPO	185573246|185573246	0.000000|0.000000	0.05858|0.05858	0.012000|0.012000	0.15200|0.15200	0.293000|0.293000	0.27360|0.27360	-0.051000|-0.051000	0.11885|0.11885	1.048000|1.048000	0.40298|0.40298	-0.444000|-0.444000	0.05651|0.05651	GCC|AGC		0.562	THPO-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000345554.1	NM_000460		38	77	0	0	0	1	0	38	77					T	184090552	C	T	184090552	3	4	435	1	0	0	0	0	1	0	0	0	15869	797	28	3	254	3	THPO	3	184090552	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	14782	184090552	13931878	2154	23079											
EPHB3	2049	broad.mit.edu	37	chr3	184295154	184295154	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cgtctgaagtgcccacactaCgcctgcacagcagctcaggc	9	6	10	16	2	2	1	1	1	1	0	2	1	2	1	2	1	5	3	2	1	2	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:184295154C>T	ENST00000330394.2	+	6	1830	c.1378C>T	c.(1378-1380)Cgc>Tgc	p.R460C	EIF2B5_ENST00000444495.1_Intron	NM_004443.3	NP_004434.2	P54753	EPHB3_HUMAN	EPH receptor B3	460	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|cell migration (GO:0016477)|central nervous system projection neuron axonogenesis (GO:0021952)|corpus callosum development (GO:0022038)|dendritic spine development (GO:0060996)|dendritic spine morphogenesis (GO:0060997)|digestive tract morphogenesis (GO:0048546)|ephrin receptor signaling pathway (GO:0048013)|palate development (GO:0060021)|positive regulation of synapse assembly (GO:0051965)|protein autophosphorylation (GO:0046777)|regulation of axonogenesis (GO:0050770)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell-cell adhesion (GO:0022407)|regulation of Rac GTPase activity (GO:0032314)|retinal ganglion cell axon guidance (GO:0031290)|substrate adhesion-dependent cell spreading (GO:0034446)|thymus development (GO:0048538)|urogenital system development (GO:0001655)	cell projection (GO:0042995)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|ephrin receptor activity (GO:0005003)			breast(5)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_cancers(143;1.89e-10)|Ovarian(172;0.0339)		Epithelial(37;1.27e-34)|OV - Ovarian serous cystadenocarcinoma(80;3.8e-22)			GCCCACACTACGCCTGCACAG	0.622																																						ENST00000330394.2																			0				breast(5)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	51						c.(1378-1380)Cgc>Tgc		EPH receptor B3							45	48	47					3																	184295154		2203	4300	6503	SO:0001583	missense	2049					integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr3:184295154C>T	X75208	CCDS3268.1	3q27.1	2013-09-19	2004-10-28		ENSG00000182580	ENSG00000182580		"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3394	protein-coding gene	gene with protein product		601839	"EphB3"	ETK2		8397371	Standard	NM_004443		Approved	Hek2, Tyro6	uc003foz.3	P54753	OTTHUMG00000156710	ENST00000330394.2:c.1378C>T	3.37:g.184295154C>T	ENSP00000332118:p.Arg460Cys					EIF2B5_ENST00000444495.1_Intron	p.R460C	NM_004443.3	NP_004434.2	P54753	EPHB3_HUMAN	Epithelial(37;1.27e-34)|OV - Ovarian serous cystadenocarcinoma(80;3.8e-22)		6	1830	+	all_cancers(143;1.89e-10)|Ovarian(172;0.0339)		460			Fibronectin type-III 2.		Q7Z740	Missense_Mutation	SNP	ENST00000330394.2	37	c.1378C>T	CCDS3268.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.360611	0.82353	.	.	ENSG00000182580	ENST00000330394	T	0.58940	0.3	5.6	5.6	0.85130	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.219434	0.46758	D	0.000267	T	0.73869	0.3642	M	0.88241	2.94	0.50039	D	0.999847	D	0.69078	0.997	P	0.50617	0.646	T	0.80471	-0.1368	10	0.87932	D	0	.	18.6062	0.91266	0.0:1.0:0.0:0.0	.	460	P54753	EPHB3_HUMAN	C	460	ENSP00000332118:R460C	ENSP00000332118:R460C	R	+	1	0	EPHB3	185777848	1.000000	0.71417	0.436000	0.26797	0.507000	0.33981	7.771000	0.85420	2.649000	0.89929	0.448000	0.29417	CGC		0.622	EPHB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345413.1	NM_004443		13	26	0	0	0	1	0	13	26					T	184295154	C	T	184295154	3	4	435	1	0	0	0	0	1	0	0	0	5176	536	19	1	1400	1	EPHB3	3	184295154	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	204602	184295154	13727276	2155	23080											
EPHB3	2049	broad.mit.edu	37	chr3	184297350	184297350	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagtttgccaaggagatcgaCgtgtcctgcgtcaagatcga	10	9	13	9	4	1	2	1	0	0	2	4	6	2	2	2	1	2	1	2	1	2	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:184297350C>T	ENST00000330394.2	+	10	2339	c.1887C>T	c.(1885-1887)gaC>gaT	p.D629D	EIF2B5_ENST00000444495.1_Intron	NM_004443.3	NP_004434.2	P54753	EPHB3_HUMAN	EPH receptor B3	629					angiogenesis (GO:0001525)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|cell migration (GO:0016477)|central nervous system projection neuron axonogenesis (GO:0021952)|corpus callosum development (GO:0022038)|dendritic spine development (GO:0060996)|dendritic spine morphogenesis (GO:0060997)|digestive tract morphogenesis (GO:0048546)|ephrin receptor signaling pathway (GO:0048013)|palate development (GO:0060021)|positive regulation of synapse assembly (GO:0051965)|protein autophosphorylation (GO:0046777)|regulation of axonogenesis (GO:0050770)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell-cell adhesion (GO:0022407)|regulation of Rac GTPase activity (GO:0032314)|retinal ganglion cell axon guidance (GO:0031290)|substrate adhesion-dependent cell spreading (GO:0034446)|thymus development (GO:0048538)|urogenital system development (GO:0001655)	cell projection (GO:0042995)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|ephrin receptor activity (GO:0005003)			breast(5)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_cancers(143;1.89e-10)|Ovarian(172;0.0339)		Epithelial(37;1.27e-34)|OV - Ovarian serous cystadenocarcinoma(80;3.8e-22)			AGGAGATCGACGTGTCCTGCG	0.547																																						ENST00000330394.2																			0				breast(5)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	51						c.(1885-1887)gaC>gaT		EPH receptor B3							77	72	73					3																	184297350		2203	4300	6503	SO:0001819	synonymous_variant	2049					integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr3:184297350C>T	X75208	CCDS3268.1	3q27.1	2013-09-19	2004-10-28		ENSG00000182580	ENSG00000182580		"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3394	protein-coding gene	gene with protein product		601839	"EphB3"	ETK2		8397371	Standard	NM_004443		Approved	Hek2, Tyro6	uc003foz.3	P54753	OTTHUMG00000156710	ENST00000330394.2:c.1887C>T	3.37:g.184297350C>T						EIF2B5_ENST00000444495.1_Intron	p.D629D	NM_004443.3	NP_004434.2	P54753	EPHB3_HUMAN	Epithelial(37;1.27e-34)|OV - Ovarian serous cystadenocarcinoma(80;3.8e-22)		10	2339	+	all_cancers(143;1.89e-10)|Ovarian(172;0.0339)		629					Q7Z740	Silent	SNP	ENST00000330394.2	37	c.1887C>T	CCDS3268.1																																																																																				0.547	EPHB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345413.1	NM_004443		20	21	0	0	0	1	0	20	21					T	184297350	C	T	184297350	2	4	435	1	0	0	0	0	0	0	0	1	5176	535	19	1		1	EPHB3	3	184297350	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	2196	184297350	13725080	2156	23081											
VPS8	23355	broad.mit.edu	37	chr3	184567775	184567775	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttctaagatcaataacagatGctcatcctccaggaacagca	15	9	6	11	0	3	2	2	0	1	2	5	3	5	3	2	1	4	2	2	1	4	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:184567775G>A	ENST00000437079.3	+	10	889	c.718G>A	c.(718-720)Gct>Act	p.A240T	VPS8_ENST00000436792.2_Missense_Mutation_p.A238T|VPS8_ENST00000446204.2_Missense_Mutation_p.A238T|VPS8_ENST00000287546.4_Missense_Mutation_p.A240T	NM_001009921.2	NP_001009921.1	Q8N3P4	VPS8_HUMAN	vacuolar protein sorting 8 homolog (S. cerevisiae)	240							zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	54	all_cancers(143;2.51e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		Epithelial(37;1.02e-33)|OV - Ovarian serous cystadenocarcinoma(80;4.81e-22)			AATAACAGATGCTCATCCTCC	0.308																																						ENST00000287546.4																			0				NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	54						c.(718-720)Gct>Act		vacuolar protein sorting 8 homolog (S. cerevisiae)							121	115	117					3																	184567775		1831	4077	5908	SO:0001583	missense	23355						zinc ion binding	g.chr3:184567775G>A	AK056661	CCDS46972.1	3q27.2	2006-07-07	2006-07-07	2006-07-07	ENSG00000156931	ENSG00000156931			29122	protein-coding gene	gene with protein product			"KIAA0804"	KIAA0804		9872452	Standard	NM_001009921		Approved	FLJ32099	uc003fpb.1	Q8N3P4	OTTHUMG00000156707	ENST00000437079.3:c.718G>A	3.37:g.184567775G>A	ENSP00000397879:p.Ala240Thr					VPS8_ENST00000446204.2_Missense_Mutation_p.A238T|VPS8_ENST00000436792.2_Missense_Mutation_p.A238T|VPS8_ENST00000437079.3_Missense_Mutation_p.A240T	p.A240T	NM_015303.3	NP_056118.2	Q8N3P4	VPS8_HUMAN	Epithelial(37;1.02e-33)|OV - Ovarian serous cystadenocarcinoma(80;4.81e-22)		9	889	+	all_cancers(143;2.51e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		240					A8K8Q8|B9EIQ1|C9JB61|O94896|Q63HP2|Q9BVP9|Q9H9B0	Missense_Mutation	SNP	ENST00000437079.3	37	c.718G>A	CCDS46971.1	.	.	.	.	.	.	.	.	.	.	G	33	5.277922	0.95459	.	.	ENSG00000156931	ENST00000287546;ENST00000437079;ENST00000436792;ENST00000446204	T;T;T;T	0.14144	2.53;2.53;2.53;2.53	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	T	0.32763	0.0840	L	0.46157	1.445	0.80722	D	1	D;D	0.89917	0.996;1.0	D;D	0.79784	0.993;0.982	T	0.00357	-1.1792	10	0.34782	T	0.22	-15.0597	19.757	0.96298	0.0:0.0:1.0:0.0	.	238;238	Q8N3P4-2;Q8N3P4-3	.;.	T	240;240;238;238	ENSP00000287546:A240T;ENSP00000397879:A240T;ENSP00000404704:A238T;ENSP00000405483:A238T	ENSP00000287546:A240T	A	+	1	0	VPS8	186050469	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.845000	0.99498	2.678000	0.91216	0.460000	0.39030	GCT		0.308	VPS8-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_015303		11	24	0	0	0	1	0	11	24					A	184567775	G	A	184567775	3	1	435	1	0	0	0	0	1	0	0	0	17215	1319	46	3	748	3	VPS8	3	184567775	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	270425	184567775	13454655	2157	23082											
MAP3K13	9175	broad.mit.edu	37	chr3	185169094	185169094	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcagagtaaacctcgaaacCgaccttcttttcggcagaca	12	8	9	12	3	1	2	0	0	1	2	3	4	1	2	3	2	2	3	3	2	3	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:185169094C>T	ENST00000265026.3	+	7	1523	c.1189C>T	c.(1189-1191)Cga>Tga	p.R397*	MAP3K13_ENST00000443863.1_Nonsense_Mutation_p.R253*|MAP3K13_ENST00000446828.1_Nonsense_Mutation_p.R190*|MAP3K13_ENST00000424227.1_Nonsense_Mutation_p.R397*|MAP3K13_ENST00000535426.1_Nonsense_Mutation_p.R253*	NM_004721.4	NP_004712.1			mitogen-activated protein kinase kinase kinase 13									p.R397*(1)		NS(1)|biliary_tract(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(13)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54	all_cancers(143;7.21e-11)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)			ACCTCGAAACCGACCTTCTTT	0.398																																						ENST00000265026.3																			1	Substitution - Nonsense(1)	p.R397*(1)	large_intestine(1)	NS(1)|biliary_tract(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(13)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54						c.(1189-1191)Cga>Tga		mitogen-activated protein kinase kinase kinase 13							132	117	122					3																	185169094		2203	4300	6503	SO:0001587	stop_gained	9175				activation of MAPKK activity|JNK cascade|positive regulation of NF-kappaB transcription factor activity|protein autophosphorylation	cytoplasm|membrane|membrane fraction	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding	g.chr3:185169094C>T	BC031677	CCDS3270.1, CCDS56298.1	3q27	2011-06-09			ENSG00000073803	ENSG00000073803		"Mitogen-activated protein kinase cascade / Kinase kinase kinases"	6852	protein-coding gene	gene with protein product	"leucine zipper-bearing kinase"	604915				9353328	Standard	NM_004721		Approved	LZK, MEKK13	uc003fpi.3	O43283	OTTHUMG00000156673	ENST00000265026.3:c.1189C>T	3.37:g.185169094C>T	ENSP00000265026:p.Arg397*					MAP3K13_ENST00000424227.1_Nonsense_Mutation_p.R397*|MAP3K13_ENST00000535426.1_Nonsense_Mutation_p.R253*|MAP3K13_ENST00000446828.1_Nonsense_Mutation_p.R190*|MAP3K13_ENST00000443863.1_Nonsense_Mutation_p.R253*	p.R397*	NM_004721.4	NP_004712.1	O43283	M3K13_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)		7	1523	+	all_cancers(143;7.21e-11)|Ovarian(172;0.0339)		397			Protein kinase.			Nonsense_Mutation	SNP	ENST00000265026.3	37	c.1189C>T	CCDS3270.1	.	.	.	.	.	.	.	.	.	.	C	39	7.790644	0.98492	.	.	ENSG00000073803	ENST00000446828;ENST00000424227;ENST00000443863;ENST00000535426;ENST00000265026;ENST00000420577	.	.	.	5.76	3.9	0.45041	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.126	0.72483	0.2586:0.7413:0.0:0.0	.	.	.	.	X	190;397;253;253;397;142	.	ENSP00000265026:R397X	R	+	1	2	MAP3K13	186651788	0.976000	0.34144	0.991000	0.47740	0.993000	0.82548	1.472000	0.35376	0.826000	0.34661	0.655000	0.94253	CGA		0.398	MAP3K13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345268.1	NM_004721		25	44	0	0	0	1	0	25	44					T	185169094	C	T	185169094	4	4	435	1	0	0	0	0	0	1	0	0	9247	644	23	2	1211	2	MAP3K13	3	185169094	Nonsense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	601319	185169094	12853336	2158	23083											
TBCCD1	55171	broad.mit.edu	37	chr3	186272347	186272347	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atgaaaaggggcaaaagttaCtgtctggttcccagagagaa	15	8	12	6	0	1	3	0	1	1	2	2	4	2	3	1	3	1	3	1	3	6	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:186272347C>T	ENST00000424280.1	-	6	1719	c.1240G>A	c.(1240-1242)Gta>Ata	p.V414I	TBCCD1_ENST00000446782.1_Missense_Mutation_p.V318I|TBCCD1_ENST00000338733.5_Missense_Mutation_p.V414I|TBCCD1_ENST00000479590.1_5'Flank	NM_001134415.1	NP_001127887.1	Q9NVR7	TBCC1_HUMAN	TBCC domain containing 1	414	C-CAP/cofactor C-like. {ECO:0000255|PROSITE-ProRule:PRU00659}.				cell morphogenesis (GO:0000902)|cytoskeleton organization (GO:0007010)|maintenance of centrosome location (GO:0051661)|maintenance of Golgi location (GO:0051684)|regulation of cell migration (GO:0030334)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)|spindle pole centrosome (GO:0031616)				breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)|skin(1)	17	all_cancers(143;3.75e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;4.3e-21)	GBM - Glioblastoma multiforme(93;0.0474)		GCAAAAGTTACTGTCTGGTTC	0.463																																						ENST00000424280.1																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)|skin(1)	17						c.(1240-1242)Gta>Ata		TBCC domain containing 1							105	99	101					3																	186272347		2203	4300	6503	SO:0001583	missense	55171				cell morphogenesis|maintenance of centrosome location|maintenance of Golgi location|regulation of cell migration|regulation of cell shape	spindle pole centrosome	binding	g.chr3:186272347C>T	BC025748	CCDS3276.1, CCDS75061.1	3q27.3	2006-03-09			ENSG00000113838	ENSG00000113838			25546	protein-coding gene	gene with protein product						12477932	Standard	NM_001134415		Approved	FLJ10560	uc003fqg.3	Q9NVR7	OTTHUMG00000156613	ENST00000424280.1:c.1240G>A	3.37:g.186272347C>T	ENSP00000411253:p.Val414Ile					TBCCD1_ENST00000338733.5_Missense_Mutation_p.V414I|TBCCD1_ENST00000446782.1_Missense_Mutation_p.V318I	p.V414I	NM_001134415.1	NP_001127887.1	Q9NVR7	TBCC1_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;4.3e-21)	GBM - Glioblastoma multiforme(93;0.0474)	6	1719	-	all_cancers(143;3.75e-12)|Ovarian(172;0.0339)		414			C-CAP/cofactor C-like.		B3KW69|D3DNU6|G5E9J4	Missense_Mutation	SNP	ENST00000424280.1	37	c.1240G>A	CCDS3276.1	.	.	.	.	.	.	.	.	.	.	C	6.623	0.483288	0.12581	.	.	ENSG00000113838	ENST00000424280;ENST00000338733;ENST00000446782	D;D;D	0.85702	-2.02;-2.02;-2.02	5.81	4.93	0.64822	Tubulin binding cofactor C (1);C-CAP/cofactor C-like domain (1);	0.299519	0.36665	N	0.002462	T	0.62938	0.2469	N	0.02539	-0.55	0.32149	N	0.584423	B;B	0.06786	0.001;0.001	B;B	0.10450	0.003;0.005	T	0.57539	-0.7794	10	0.02654	T	1	-6.2693	13.0957	0.59190	0.0:0.9209:0.0:0.0791	.	318;414	G5E9J4;Q9NVR7	.;TBCC1_HUMAN	I	414;414;318	ENSP00000411253:V414I;ENSP00000341652:V414I;ENSP00000397091:V318I	ENSP00000341652:V414I	V	-	1	0	TBCCD1	187755041	0.097000	0.21791	1.000000	0.80357	0.985000	0.73830	0.464000	0.21988	2.763000	0.94921	0.552000	0.68991	GTA		0.463	TBCCD1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344774.1	NM_018138		10	16	0	0	0	1	0	10	16					T	186272347	C	T	186272347	3	4	435	1	0	0	0	0	1	0	0	0	15629	565	20	3	441	3	TBCCD1	3	186272347	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	1103253	186272347	11750083	2159	23084											
TP63	8626	broad.mit.edu	37	chr3	189526227	189526227	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tgctctctctccatcacccgCcatcccctccaacaccgact	7	9	3	22	2	3	0	1	0	2	0	7	1	5	0	7	0	2	1	7	0	1	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:189526227C>T	ENST00000264731.3	+	4	580	c.491C>T	c.(490-492)gCc>gTc	p.A164V	TP63_ENST00000440651.2_Missense_Mutation_p.A164V|TP63_ENST00000392460.3_Missense_Mutation_p.A164V|TP63_ENST00000392461.3_Missense_Mutation_p.A70V|TP63_ENST00000354600.5_Missense_Mutation_p.A70V|TP63_ENST00000449992.1_Intron|TP63_ENST00000456148.1_Missense_Mutation_p.A70V|TP63_ENST00000382063.4_Intron|TP63_ENST00000437221.1_Missense_Mutation_p.A70V|TP63_ENST00000392463.2_Missense_Mutation_p.A70V|TP63_ENST00000418709.2_Missense_Mutation_p.A164V|TP63_ENST00000320472.5_Missense_Mutation_p.A164V	NM_001114978.1|NM_003722.4	NP_001108450.1|NP_003713.3	Q9H3D4	P63_HUMAN	tumor protein p63	164					apoptotic process (GO:0006915)|cell aging (GO:0007569)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|chromatin remodeling (GO:0006338)|cloacal septation (GO:0060197)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|ectoderm and mesoderm interaction (GO:0007499)|embryonic limb morphogenesis (GO:0030326)|epidermal cell division (GO:0010481)|epithelial cell development (GO:0002064)|establishment of planar polarity (GO:0001736)|establishment of skin barrier (GO:0061436)|female genitalia morphogenesis (GO:0048807)|hair follicle morphogenesis (GO:0031069)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|keratinocyte differentiation (GO:0030216)|keratinocyte proliferation (GO:0043616)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organismal aging (GO:0010259)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular senescence (GO:2000773)|negative regulation of keratinocyte differentiation (GO:0045617)|negative regulation of mesoderm development (GO:2000381)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|odontogenesis of dentin-containing tooth (GO:0042475)|polarized epithelial cell differentiation (GO:0030859)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell cycle G1/S phase transition (GO:1902808)|positive regulation of fibroblast apoptotic process (GO:2000271)|positive regulation of keratinocyte proliferation (GO:0010838)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|post-anal tail morphogenesis (GO:0036342)|prostatic bud formation (GO:0060513)|protein homotetramerization (GO:0051289)|proximal/distal pattern formation (GO:0009954)|regulation of epidermal cell division (GO:0010482)|regulation of neuron apoptotic process (GO:0043523)|response to gamma radiation (GO:0010332)|response to X-ray (GO:0010165)|skeletal system development (GO:0001501)|smooth muscle tissue development (GO:0048745)|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development (GO:0060529)|sympathetic nervous system development (GO:0048485)|urinary bladder development (GO:0060157)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|p53 binding (GO:0002039)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding transcription factor activity (GO:0000989)|transcription regulatory region DNA binding (GO:0044212)|WW domain binding (GO:0050699)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6)	61	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)		CCATCACCCGCCATCCCCTCC	0.637										HNSCC(45;0.13)																												ENST00000264731.3																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6)	61						c.(490-492)gCc>gTc		tumor protein p63							170	123	139					3																	189526227		2203	4300	6503	SO:0001583	missense	8626				anti-apoptosis|cellular response to UV|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|Notch signaling pathway|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to gamma radiation|response to X-ray	chromatin|cytosol|dendrite|Golgi apparatus|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr3:189526227C>T	AB010153	CCDS3293.1, CCDS46976.1, CCDS46977.1, CCDS46978.1, CCDS46979.1, CCDS46980.1	3q27-q29	2014-09-17			ENSG00000073282	ENSG00000073282			15979	protein-coding gene	gene with protein product		603273	"tumor protein p73-like", "tumor protein p53-like", "tumor protein p53-competing protein"	TP73L, TP53L, TP53CP		9774969, 9662378, 11181441, 11181451	Standard	NM_003722		Approved	p51, SHFM4, EEC3, p63, p73L, OFC8, KET, p73H, NBP, p53CP	uc003fry.2	Q9H3D4	OTTHUMG00000156313	ENST00000264731.3:c.491C>T	3.37:g.189526227C>T	ENSP00000264731:p.Ala164Val	HNSCC(45;0.13)				TP63_ENST00000382063.4_Intron|TP63_ENST00000456148.1_Missense_Mutation_p.A70V|TP63_ENST00000392463.2_Missense_Mutation_p.A70V|TP63_ENST00000440651.2_Missense_Mutation_p.A164V|TP63_ENST00000418709.2_Missense_Mutation_p.A164V|TP63_ENST00000437221.1_Missense_Mutation_p.A70V|TP63_ENST00000392461.3_Missense_Mutation_p.A70V|TP63_ENST00000354600.5_Missense_Mutation_p.A70V|TP63_ENST00000449992.1_Intron|TP63_ENST00000320472.5_Missense_Mutation_p.A164V|TP63_ENST00000392460.3_Missense_Mutation_p.A164V	p.A164V	NM_001114978.1|NM_003722.4	NP_001108450.1|NP_003713.3	Q9H3D4	P63_HUMAN	Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)	4	580	+	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		164					O75080|O75195|O75922|O76078|Q6VEG2|Q6VEG3|Q6VEG4|Q6VFJ1|Q6VFJ2|Q6VFJ3|Q6VH20|Q7LDI3|Q7LDI4|Q7LDI5|Q96KR0|Q9H3D2|Q9H3D3|Q9H3P8|Q9NPH7|Q9P1B4|Q9P1B5|Q9P1B6|Q9P1B7|Q9UBV9|Q9UE10|Q9UP26|Q9UP27|Q9UP28|Q9UP74	Missense_Mutation	SNP	ENST00000264731.3	37	c.491C>T	CCDS3293.1	.	.	.	.	.	.	.	.	.	.	C	13.33	2.204743	0.38905	.	.	ENSG00000073282	ENST00000264731;ENST00000418709;ENST00000320472;ENST00000392460;ENST00000440651;ENST00000354600;ENST00000434928;ENST00000437221;ENST00000392463;ENST00000392461;ENST00000456148	D;D;D;D;D;D;D;D;D;D;D	0.99758	-6.65;-6.65;-6.65;-6.65;-6.65;-6.65;-6.65;-6.65;-6.65;-6.65;-6.65	5.83	4.95	0.65309	p53, DNA-binding domain (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.106561	0.64402	D	0.000004	D	0.98270	0.9427	N	0.03608	-0.345	0.80722	D	1	B;B;B;B;B;B;B;B;B	0.22414	0.069;0.069;0.035;0.035;0.035;0.044;0.069;0.047;0.069	B;B;B;B;B;B;B;B;B	0.35813	0.134;0.134;0.043;0.035;0.016;0.016;0.134;0.211;0.134	D	0.99928	1.1301	9	.	.	.	-7.0778	16.073	0.80948	0.0:0.8659:0.1341:0.0	.	164;164;70;70;70;70;164;164;164	Q9H3D4-7;Q9H3D4-11;Q9H3D4-4;Q9H3D4-2;Q9H3D4-6;C9D7C9;Q9H3D4-3;Q9H3D4;Q9H3D4-5	.;.;.;.;.;.;.;P63_HUMAN;.	V	164;164;164;164;164;70;70;70;70;70;70	ENSP00000264731:A164V;ENSP00000407144:A164V;ENSP00000317510:A164V;ENSP00000376253:A164V;ENSP00000394337:A164V;ENSP00000346614:A70V;ENSP00000401661:A70V;ENSP00000392488:A70V;ENSP00000376256:A70V;ENSP00000376254:A70V;ENSP00000389485:A70V	.	A	+	2	0	TP63	191008921	1.000000	0.71417	0.975000	0.42487	0.250000	0.25880	7.818000	0.86416	1.461000	0.47929	-0.176000	0.13171	GCC		0.637	TP63-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000343865.1	NM_003722		10	22	0	0	0	1	0	10	22					T	189526227	C	T	189526227	3	4	435	1	0	0	0	0	1	0	0	0	16389	739	26	3	551	3	TP63	3	189526227	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	3253880	189526227	8496203	2160	23085											
CLDN1	9076	broad.mit.edu	37	chr3	190030679	190030679	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acctgcaagaagaaatatcgCacccccaatgacagccatcc	15	5	6	15	1	0	3	0	1	0	2	2	3	1	3	5	0	2	2	5	0	5	1	rs140846629	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:190030679C>T	ENST00000295522.3	-	2	638	c.370G>A	c.(370-372)Gcg>Acg	p.A124T		NM_021101.4	NP_066924.1	O95832	CLD1_HUMAN	claudin 1	124					calcium-independent cell-cell adhesion (GO:0016338)|cell adhesion (GO:0007155)|cell-cell junction organization (GO:0045216)|establishment of skin barrier (GO:0061436)|viral process (GO:0016032)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|tight junction (GO:0005923)	identical protein binding (GO:0042802)|structural molecule activity (GO:0005198)			lung(9)	9	all_cancers(143;2.95e-10)|Ovarian(172;0.0512)		Lung(62;2.23e-05)|LUSC - Lung squamous cell carcinoma(58;3.15e-05)	GBM - Glioblastoma multiforme(93;0.015)		AGAAATATCGCACCCCCAATG	0.458													C|||	7	0.00139776	0	0.0043	5008	,	,		19508	0		0.004	False		,,,				2504	0					ENST00000295522.3																			0				lung(9)	9						c.(370-372)Gcg>Acg		claudin 1		C	THR/ALA	3,4403		0,3,2200	218	179	192		370	2.8	0.5	3	dbSNP_134	192	17,8583	5.0+/-18.6	0,17,4283	yes	missense	CLDN1	NM_021101.4	58	0,20,6483	TT,TC,CC		0.1977,0.0681,0.1538	benign	124/212	190030679	20,12986	2203	4300	6503	SO:0001583	missense	9076				calcium-independent cell-cell adhesion|interspecies interaction between organisms	integral to plasma membrane|tight junction	identical protein binding|structural molecule activity	g.chr3:190030679C>T	AF101051	CCDS3295.1	3q28-q29	2008-07-18			ENSG00000163347	ENSG00000163347		"Claudins"	2032	protein-coding gene	gene with protein product	"senescence-associated epithelial membrane protein 1"	603718				10828592, 9892664	Standard	NM_021101		Approved	SEMP1, ILVASC	uc003fsh.3	O95832	OTTHUMG00000156214	ENST00000295522.3:c.370G>A	3.37:g.190030679C>T	ENSP00000295522:p.Ala124Thr						p.A124T	NM_021101.4	NP_066924.1	O95832	CLD1_HUMAN	Lung(62;2.23e-05)|LUSC - Lung squamous cell carcinoma(58;3.15e-05)	GBM - Glioblastoma multiforme(93;0.015)	2	638	-	all_cancers(143;2.95e-10)|Ovarian(172;0.0512)		124						Missense_Mutation	SNP	ENST00000295522.3	37	c.370G>A	CCDS3295.1	6	0.0027472527472527475	0	0.0	3	0.008287292817679558	0	0.0	3	0.00395778364116095	C	16.00	2.999096	0.54147	6.81E-4	0.001977	ENSG00000163347	ENST00000295522;ENST00000545382	D	0.89050	-2.46	6.04	2.79	0.32731	.	0.336788	0.35124	N	0.003435	T	0.79257	0.4415	N	0.25332	0.735	0.19575	N	0.999961	P	0.36183	0.542	B	0.42462	0.388	T	0.74219	-0.3736	10	0.72032	D	0.01	.	9.4241	0.38570	0.0:0.7291:0.0:0.2709	.	124	O95832	CLD1_HUMAN	T	124;79	ENSP00000295522:A124T	ENSP00000295522:A124T	A	-	1	0	CLDN1	191513373	0.000000	0.05858	0.453000	0.27007	0.753000	0.42808	0.332000	0.19751	0.637000	0.30526	0.561000	0.74099	GCG		0.458	CLDN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343516.2	NM_021101		28	59	0	0	0	1	0	28	59					T	190030679	C	T	190030679	3	4	435	1	0	0	0	0	1	0	0	0	3471	710	25	3	277	3	CLDN1	3	190030679	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	504452	190030679	7991751	2161	23086											
CLDN16	10686	broad.mit.edu	37	chr3	190126206	190126206	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttggtatccaatataaattTggttggtcctgttggctcgg	7	16	11	7	1	0	0	0	0	0	0	3	0	2	0	2	5	0	4	2	5	5	7			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:190126206T>C	ENST00000264734.2	+	4	944	c.696T>C	c.(694-696)ttT>ttC	p.F232F	CLDN16_ENST00000456423.1_Intron	NM_006580.3	NP_006571.1	Q9Y5I7	CLD16_HUMAN	claudin 16	232			F -> C (in HOMG3). {ECO:0000269|PubMed:10390358}.		calcium-independent cell-cell adhesion (GO:0016338)|cellular metal ion homeostasis (GO:0006875)|excretion (GO:0007588)|magnesium ion transport (GO:0015693)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	identical protein binding (GO:0042802)|magnesium ion transmembrane transporter activity (GO:0015095)|structural molecule activity (GO:0005198)			breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|skin(1)	19	all_cancers(143;3.61e-10)|Ovarian(172;0.0991)		Lung(62;2.23e-05)|LUSC - Lung squamous cell carcinoma(58;3.15e-05)	GBM - Glioblastoma multiforme(93;0.018)		AATATAAATTTGGTTGGTCCT	0.418																																						ENST00000264734.2																			0				breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|skin(1)	19						c.(694-696)ttT>ttC		claudin 16							215	206	209					3																	190126206		2203	4300	6503	SO:0001819	synonymous_variant	10686				calcium-independent cell-cell adhesion|cellular metal ion homeostasis|excretion	integral to membrane|tight junction	identical protein binding|magnesium ion transmembrane transporter activity|structural molecule activity	g.chr3:190126206T>C	AF152101	CCDS3296.1	3q28	2008-12-10			ENSG00000113946	ENSG00000113946		"Claudins"	2037	protein-coding gene	gene with protein product	"paracellin-1", "hypomagnesemia 3, with hypercalciuria and nephrocalcinosis"	603959				10390358	Standard	NM_006580		Approved	PCLN1, HOMG3	uc003fsi.3	Q9Y5I7	OTTHUMG00000156215	ENST00000264734.2:c.696T>C	3.37:g.190126206T>C						CLDN16_ENST00000456423.1_Intron	p.F232F	NM_006580.3	NP_006571.1	Q9Y5I7	CLD16_HUMAN	Lung(62;2.23e-05)|LUSC - Lung squamous cell carcinoma(58;3.15e-05)	GBM - Glioblastoma multiforme(93;0.018)	4	944	+	all_cancers(143;3.61e-10)|Ovarian(172;0.0991)		232		F -> C (in HOMG3).				Silent	SNP	ENST00000264734.2	37	c.696T>C	CCDS3296.1																																																																																				0.418	CLDN16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343519.1	NM_006580		52	94	0	0	0	1	0	52	94					C	190126206	T	C	190126206	2	2	435	1	0	0	0	0	0	0	0	1	3477	1809	63	4		4	CLDN16	3	190126206	Silent	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	95527	190126206	7896224	2162	23087											
ATP13A5	344905	broad.mit.edu	37	chr3	193052824	193052824	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctataatcctccaaactgtgAcatttccaaggcatagtgtt	12	13	6	10	0	0	1	0	1	0	0	3	1	3	1	3	1	1	2	3	1	5	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:193052824A>G	ENST00000342358.4	-	10	1125	c.1008T>C	c.(1006-1008)tgT>tgC	p.C336C		NM_198505.2	NP_940907.2	Q4VNC0	AT135_HUMAN	ATPase type 13A5	336						integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)			NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76	all_cancers(143;1.08e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000307)		CCAAACTGTGACATTTCCAAG	0.448																																						ENST00000342358.4																			0				NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76						c.(1006-1008)tgT>tgC		ATPase type 13A5							184	174	177					3																	193052824		2203	4300	6503	SO:0001819	synonymous_variant	344905				ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding	g.chr3:193052824A>G	AK122613	CCDS33914.1	3q29	2010-04-20			ENSG00000187527	ENSG00000187527		"ATPases / P-type"	31789	protein-coding gene	gene with protein product							Standard	NM_198505		Approved	FLJ16025	uc011bsq.2	Q4VNC0	OTTHUMG00000156101	ENST00000342358.4:c.1008T>C	3.37:g.193052824A>G							p.C336C	NM_198505.2	NP_940907.2	Q4VNC0	AT135_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000307)	10	1125	-	all_cancers(143;1.08e-08)|Ovarian(172;0.0386)		336					Q6UWS4|Q6ZWL0	Silent	SNP	ENST00000342358.4	37	c.1008T>C	CCDS33914.1																																																																																				0.448	ATP13A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343012.1	NM_198505		37	69	0	0	0	1	0	37	69					G	193052824	A	G	193052824	2	3	435	1	0	0	0	0	0	0	0	1	1127	273	10	4		4	ATP13A5	3	193052824	Silent	SNP	A	TCGA-XK-AAIW-01A-11D-A41K-08	2926618	193052824	4969606	2163	23088											
ATP13A4	84239	broad.mit.edu	37	chr3	193209164	193209164	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtgtaacttcaacatcgataGtattaggcccacatattaac	14	12	6	9	1	1	0	1	0	0	0	2	1	1	0	1	1	3	2	1	1	7	7			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:193209164G>A	ENST00000342695.4	-	6	879	c.557C>T	c.(556-558)aCt>aTt	p.T186I	ATP13A4_ENST00000392443.3_Missense_Mutation_p.T186I|ATP13A4_ENST00000295548.3_Missense_Mutation_p.T186I	NM_032279.2	NP_115655.2	Q4VNC1	AT134_HUMAN	ATPase type 13A4	186						integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2)	71	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000109)		AACATCGATAGTATTAGGCCC	0.363																																						ENST00000342695.4																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2)	71						c.(556-558)aCt>aTt		ATPase type 13A4							112	111	111					3																	193209164		2203	4300	6503	SO:0001583	missense	84239				ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding	g.chr3:193209164G>A	AK095277	CCDS3304.2	3q29	2010-04-20			ENSG00000127249	ENSG00000127249		"ATPases / P-type"	25422	protein-coding gene	gene with protein product		609556				14702039, 12975309	Standard	XM_005247829		Approved	DKFZp761I1011, FLJ37958	uc003ftd.3	Q4VNC1	OTTHUMG00000074067	ENST00000342695.4:c.557C>T	3.37:g.193209164G>A	ENSP00000339182:p.Thr186Ile					ATP13A4_ENST00000392443.3_Missense_Mutation_p.T186I|ATP13A4_ENST00000295548.3_Missense_Mutation_p.T186I	p.T186I	NM_032279.2	NP_115655.2	Q4VNC1	AT134_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000109)	6	879	-	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		186					B7WPC7|Q6UY23|Q8N1Q9|Q9H043	Missense_Mutation	SNP	ENST00000342695.4	37	c.557C>T	CCDS3304.2	.	.	.	.	.	.	.	.	.	.	G	9.288	1.049794	0.19827	.	.	ENSG00000127249	ENST00000392443;ENST00000342695;ENST00000295548	T;T;T	0.78595	-1.19;-1.19;-1.19	5.81	4.94	0.65067	ATPase, P-type cation-transporter, N-terminal (2);	0.193218	0.36740	N	0.002426	T	0.60444	0.2269	N	0.12422	0.21	0.28528	N	0.912742	B;B	0.18863	0.011;0.031	B;B	0.24269	0.021;0.052	T	0.54268	-0.8319	10	0.35671	T	0.21	-29.1971	9.3451	0.38104	0.0758:0.1463:0.7778:0.0	.	186;186	Q4VNC1-2;Q4VNC1	.;AT134_HUMAN	I	186	ENSP00000376238:T186I;ENSP00000339182:T186I;ENSP00000295548:T186I	ENSP00000295548:T186I	T	-	2	0	ATP13A4	194691858	0.875000	0.30112	0.990000	0.47175	0.805000	0.45488	3.011000	0.49567	1.468000	0.48064	-0.226000	0.12346	ACT		0.363	ATP13A4-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157244.4	NM_032279		30	36	0	0	0	1	0	30	36					A	193209164	G	A	193209164	3	1	435	1	0	0	0	0	1	0	0	0	1126	1029	36	3	3133	3	ATP13A4	3	193209164	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	156340	193209164	4813266	2164	23089											
GP5	2814	broad.mit.edu	37	chr3	194117532	194117532	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gctgttgggagccaaggctgGgtggacaggggcttccgagg	6	7	20	8	1	0	0	0	0	0	0	1	3	1	2	2	7	1	4	2	7	1	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:194117532G>A	ENST00000401815.1	-	1	1551	c.1480C>T	c.(1480-1482)Cca>Tca	p.P494S	GP5_ENST00000323007.3_Missense_Mutation_p.P494S			P40197	GPV_HUMAN	glycoprotein V (platelet)	494					blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|negative regulation of platelet activation (GO:0010544)|platelet activation (GO:0030168)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				breast(3)|central_nervous_system(2)|endometrium(2)|large_intestine(9)|lung(14)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	35	all_cancers(143;6.64e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	OV - Ovarian serous cystadenocarcinoma(49;7.38e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.06e-05)		GCCAAGGCTGGGTGGACAGGG	0.697																																						ENST00000401815.1																			0				breast(3)|central_nervous_system(2)|endometrium(2)|large_intestine(9)|lung(14)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	35						c.(1480-1482)Cca>Tca		glycoprotein V (platelet)							49	58	55					3																	194117532		2202	4300	6502	SO:0001583	missense	2814				blood coagulation, intrinsic pathway|cell adhesion|platelet activation	integral to plasma membrane		g.chr3:194117532G>A	L11238	CCDS3307.1	3q29	2008-02-01			ENSG00000178732	ENSG00000178732		"CD molecules"	4443	protein-coding gene	gene with protein product		173511				7690959	Standard	NM_004488		Approved	CD42d	uc003ftv.1	P40197	OTTHUMG00000150345	ENST00000401815.1:c.1480C>T	3.37:g.194117532G>A	ENSP00000383931:p.Pro494Ser					GP5_ENST00000323007.3_Missense_Mutation_p.P494S	p.P494S			P40197	GPV_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;7.38e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.06e-05)	1	1551	-	all_cancers(143;6.64e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	494					D1MER9	Missense_Mutation	SNP	ENST00000401815.1	37	c.1480C>T	CCDS3307.1	.	.	.	.	.	.	.	.	.	.	G	10.89	1.479277	0.26511	.	.	ENSG00000178732	ENST00000401815;ENST00000323007	T;T	0.44482	0.92;0.92	4.25	-3.88	0.04205	.	0.815025	0.10359	N	0.684236	T	0.20414	0.0491	L	0.29908	0.895	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.33007	-0.9885	10	0.07990	T	0.79	.	3.721	0.08456	0.3235:0.0:0.3026:0.3739	.	494	P40197	GPV_HUMAN	S	494	ENSP00000383931:P494S;ENSP00000319286:P494S	ENSP00000319286:P494S	P	-	1	0	GP5	195598821	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.951000	0.01529	-0.751000	0.04734	-1.194000	0.01681	CCA		0.697	GP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317710.1	NM_004488		36	40	0	0	0	1	0	36	40					A	194117532	G	A	194117532	3	1	435	1	0	0	0	0	1	0	0	0	6583	1232	43	3	206	3	GP5	3	194117532	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	908368	194117532	3904898	2165	23090											
ATP13A3	79572	broad.mit.edu	37	chr3	194167660	194167660	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgaaactgaacccaccttgTcaaagcaaacaagattgagc	17	7	7	10	0	1	4	1	3	0	1	1	4	1	4	2	0	5	1	2	0	5	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:194167660T>C	ENST00000439040.1	-	14	2284	c.1493A>G	c.(1492-1494)gAc>gGc	p.D498G	ATP13A3_ENST00000256031.4_Missense_Mutation_p.D498G			Q9H7F0	AT133_HUMAN	ATPase type 13A3	498						integral component of membrane (GO:0016021)|membrane (GO:0016020)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)			NS(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	24	all_cancers(143;6.01e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	OV - Ovarian serous cystadenocarcinoma(49;3.83e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;5.98e-05)		ACCCACCTTGTCAAAGCAAAC	0.323																																						ENST00000439040.1																			0				NS(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	24						c.(1492-1494)gAc>gGc		ATPase type 13A3							106	99	102					3																	194167660		1844	4093	5937	SO:0001583	missense	79572				ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding	g.chr3:194167660T>C	AJ306929	CCDS43187.1	3q29	2010-04-20			ENSG00000133657	ENSG00000133657		"ATPases / P-type"	24113	protein-coding gene	gene with protein product	"ATPase family homolog up regulated in senescence cells"	610232				11867234	Standard	NM_024524		Approved	AFURS1	uc003fty.4	Q9H7F0	OTTHUMG00000156034	ENST00000439040.1:c.1493A>G	3.37:g.194167660T>C	ENSP00000416508:p.Asp498Gly					ATP13A3_ENST00000256031.4_Missense_Mutation_p.D498G	p.D498G			Q9H7F0	AT133_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;3.83e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;5.98e-05)	14	2284	-	all_cancers(143;6.01e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	498					Q8NC11|Q96KS1	Missense_Mutation	SNP	ENST00000439040.1	37	c.1493A>G	CCDS43187.1	.	.	.	.	.	.	.	.	.	.	T	25.2	4.609859	0.87258	.	.	ENSG00000133657	ENST00000439040;ENST00000256031;ENST00000310773	D;D	0.99865	-7.29;-7.29	5.41	5.41	0.78517	HAD-like domain (1);	0.000000	0.85682	D	0.000000	D	0.99885	0.9945	M	0.92555	3.32	0.80722	D	1	D	0.64830	0.994	D	0.79784	0.993	D	0.96151	0.9108	10	0.87932	D	0	-14.194	15.4464	0.75235	0.0:0.0:0.0:1.0	.	498	Q9H7F0	AT133_HUMAN	G	498;498;236	ENSP00000416508:D498G;ENSP00000256031:D498G	ENSP00000256031:D498G	D	-	2	0	ATP13A3	195648949	1.000000	0.71417	1.000000	0.80357	0.888000	0.51559	7.614000	0.82996	2.029000	0.59856	0.482000	0.46254	GAC		0.323	ATP13A3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342799.2	NM_024524		4	83	0	0	0	1	0	4	83					C	194167660	T	C	194167660	3	2	435	1	0	0	0	0	1	0	0	0	1125	1667	58	4	2267	4	ATP13A3	3	194167660	Missense_Mutation	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	50128	194167660	3854770	2166	23091											
ACAP2	23527	broad.mit.edu	37	chr3	195016454	195016454	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tacctgaactttgggcagatGctctgacttggtcccctggc	6	12	11	12	0	1	3	0	2	1	1	2	3	2	3	3	3	3	2	3	3	2	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:195016454G>A	ENST00000326793.6	-	17	1885	c.1655C>T	c.(1654-1656)gCa>gTa	p.A552V		NM_012287.5	NP_036419.3	Q15057	ACAP2_HUMAN	ArfGAP with coiled-coil, ankyrin repeat and PH domains 2	552					cellular response to nerve growth factor stimulus (GO:1990090)|protein localization to endosome (GO:0036010)|regulation of ARF GTPase activity (GO:0032312)	endosome membrane (GO:0010008)|membrane (GO:0016020)	ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)			cervix(2)|endometrium(2)|kidney(4)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	27						TTGGGCAGATGCTCTGACTTG	0.388																																						ENST00000326793.6																			0				cervix(2)|endometrium(2)|kidney(4)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	27						c.(1654-1656)gCa>gTa		ArfGAP with coiled-coil, ankyrin repeat and PH domains 2							94	96	95					3																	195016454		2203	4300	6503	SO:0001583	missense	23527				regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding	g.chr3:195016454G>A		CCDS33924.1	3q29	2013-01-10	2008-09-22	2008-09-22	ENSG00000114331	ENSG00000114331		"ADP-ribosylation factor GTPase activating proteins", "Pleckstrin homology (PH) domain containing", "Ankyrin repeat domain containing"	16469	protein-coding gene	gene with protein product		607766	"centaurin, beta 2"	CENTB2		11050434, 11062263	Standard	NM_012287		Approved	KIAA0041, CNT-B2	uc003fun.4	Q15057	OTTHUMG00000155885	ENST00000326793.6:c.1655C>T	3.37:g.195016454G>A	ENSP00000324287:p.Ala552Val						p.A552V	NM_012287.5	NP_036419.3	Q15057	ACAP2_HUMAN			17	1885	-			552					A8K2V4|Q8N5Z8|Q9UQR3	Missense_Mutation	SNP	ENST00000326793.6	37	c.1655C>T	CCDS33924.1	.	.	.	.	.	.	.	.	.	.	G	4.868	0.161258	0.09287	.	.	ENSG00000114331	ENST00000326793	T	0.47528	0.84	5.79	1.9	0.25705	.	1.747080	0.02896	N	0.134705	T	0.30854	0.0778	N	0.08118	0	0.18873	N	0.999987	B	0.02656	0.0	B	0.01281	0.0	T	0.21793	-1.0235	10	0.25106	T	0.35	.	9.857	0.41092	0.2883:0.0:0.7117:0.0	.	552	Q15057	ACAP2_HUMAN	V	552	ENSP00000324287:A552V	ENSP00000324287:A552V	A	-	2	0	ACAP2	196497743	0.092000	0.21681	0.070000	0.20053	0.999000	0.98932	1.038000	0.30254	0.063000	0.16370	0.655000	0.94253	GCA		0.388	ACAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342126.2	NM_012287		26	34	0	0	0	1	0	26	34					A	195016454	G	A	195016454	3	1	435	1	0	0	0	0	1	0	0	0	119	1319	46	3	709	3	ACAP2	3	195016454	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	848794	195016454	3005976	2167	23092											
ACAP2	23527	broad.mit.edu	37	chr3	195028045	195028045	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggtcttcaactaccacagtcGgattatcctatagtgaggaa	12	11	9	9	1	2	1	1	1	1	0	4	3	3	3	2	3	2	0	2	3	6	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:195028045G>A	ENST00000326793.6	-	12	1147	c.917C>T	c.(916-918)cCg>cTg	p.P306L		NM_012287.5	NP_036419.3	Q15057	ACAP2_HUMAN	ArfGAP with coiled-coil, ankyrin repeat and PH domains 2	306	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				cellular response to nerve growth factor stimulus (GO:1990090)|protein localization to endosome (GO:0036010)|regulation of ARF GTPase activity (GO:0032312)	endosome membrane (GO:0010008)|membrane (GO:0016020)	ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)			cervix(2)|endometrium(2)|kidney(4)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	27						TACCACAGTCGGATTATCCTA	0.378																																						ENST00000326793.6																			0				cervix(2)|endometrium(2)|kidney(4)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	27						c.(916-918)cCg>cTg		ArfGAP with coiled-coil, ankyrin repeat and PH domains 2							106	102	104					3																	195028045		2203	4300	6503	SO:0001583	missense	23527				regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding	g.chr3:195028045G>A		CCDS33924.1	3q29	2013-01-10	2008-09-22	2008-09-22	ENSG00000114331	ENSG00000114331		"ADP-ribosylation factor GTPase activating proteins", "Pleckstrin homology (PH) domain containing", "Ankyrin repeat domain containing"	16469	protein-coding gene	gene with protein product		607766	"centaurin, beta 2"	CENTB2		11050434, 11062263	Standard	NM_012287		Approved	KIAA0041, CNT-B2	uc003fun.4	Q15057	OTTHUMG00000155885	ENST00000326793.6:c.917C>T	3.37:g.195028045G>A	ENSP00000324287:p.Pro306Leu						p.P306L	NM_012287.5	NP_036419.3	Q15057	ACAP2_HUMAN			12	1147	-			306			PH.		A8K2V4|Q8N5Z8|Q9UQR3	Missense_Mutation	SNP	ENST00000326793.6	37	c.917C>T	CCDS33924.1	.	.	.	.	.	.	.	.	.	.	G	3.617	-0.078306	0.07184	.	.	ENSG00000114331	ENST00000326793	T	0.74632	-0.86	6.07	6.07	0.98685	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.287190	0.45361	D	0.000377	T	0.61476	0.2350	N	0.20530	0.585	0.80722	D	1	B	0.20261	0.043	B	0.20384	0.029	T	0.57774	-0.7753	10	0.07813	T	0.8	.	19.6475	0.95784	0.0:0.0:1.0:0.0	.	306	Q15057	ACAP2_HUMAN	L	306	ENSP00000324287:P306L	ENSP00000324287:P306L	P	-	2	0	ACAP2	196509334	1.000000	0.71417	1.000000	0.80357	0.365000	0.29674	4.674000	0.61612	2.885000	0.99019	0.655000	0.94253	CCG		0.378	ACAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342126.2	NM_012287		32	47	0	0	0	1	0	32	47					A	195028045	G	A	195028045	3	1	435	1	0	0	0	0	1	0	0	0	119	1116	39	2	1467	2	ACAP2	3	195028045	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	11591	195028045	2994385	2168	23093											
MUC20	200958	broad.mit.edu	37	chr3	195452857	195452857	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acctccgatccaccagctctGcctgactccactgaagcaaa	11	7	6	17	1	1	2	0	2	1	0	4	3	4	2	6	0	3	2	6	0	2	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:195452857G>A	ENST00000447234.2	+	2	1509	c.1383G>A	c.(1381-1383)ctG>ctA	p.L461L	MUC20_ENST00000320736.6_Silent_p.L290L|MUC20_ENST00000445522.2_Silent_p.L426L|MUC20_ENST00000436408.1_Silent_p.L461L	NM_001282506.1	NP_001269435.1	Q8N307	MUC20_HUMAN	mucin 20, cell surface associated	461	Involved in oligomerization.				activation of MAPK activity (GO:0000187)|cellular protein metabolic process (GO:0044267)|hepatocyte growth factor receptor signaling pathway (GO:0048012)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein homooligomerization (GO:0051260)	basal plasma membrane (GO:0009925)|cell projection (GO:0042995)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)				NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(1)	23	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)	Lung NSC(153;0.191)	Epithelial(36;1e-21)|all cancers(36;9.02e-20)|OV - Ovarian serous cystadenocarcinoma(49;1.6e-18)|Lung(62;0.000104)|LUSC - Lung squamous cell carcinoma(58;0.000128)	GBM - Glioblastoma multiforme(46;1.66e-05)		CACCAGCTCTGCCTGACTCCA	0.582																																						ENST00000320736.6																			0				NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(1)	23						c.(868-870)ctG>ctA		mucin 20, cell surface associated							62	54	57					3																	195452857		2176	4264	6440	SO:0001819	synonymous_variant	200958				protein homooligomerization	apical plasma membrane|basal plasma membrane|extracellular region|microvillus membrane		g.chr3:195452857G>A	AB037780	CCDS63877.1	3q29	2008-08-07	2006-03-14		ENSG00000176945	ENSG00000176945		"Mucins"	23282	protein-coding gene	gene with protein product		610360				14565953	Standard	NM_001282506		Approved	FLJ14408, KIAA1359	uc010hzo.3	Q8N307	OTTHUMG00000155823	ENST00000447234.2:c.1383G>A	3.37:g.195452857G>A						MUC20_ENST00000445522.2_Silent_p.L426L|MUC20_ENST00000436408.1_Silent_p.L461L|MUC20_ENST00000447234.2_Silent_p.L461L	p.L290L	NM_001098516.1|NM_152673.2	NP_001091986.1|NP_689886.2	Q8N307	MUC20_HUMAN	Epithelial(36;1e-21)|all cancers(36;9.02e-20)|OV - Ovarian serous cystadenocarcinoma(49;1.6e-18)|Lung(62;0.000104)|LUSC - Lung squamous cell carcinoma(58;0.000128)	GBM - Glioblastoma multiforme(46;1.66e-05)	3	996	+	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)	Lung NSC(153;0.191)	461		Missing.	12 X 20 AA approximate tandem repeats of S-S-E-S-S-A-S-S-D-S-P-H-P-V-I-T-P-S-R-A.|Ser-rich.		Q6UX97|Q76I83|Q76I85|Q86ST8|Q8NBY6|Q96KA1|Q9P2I8	Silent	SNP	ENST00000447234.2	37	c.870G>A																																																																																					0.582	MUC20-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000341835.1	NM_152673		7	17	0	0	0	1	0	7	17					A	195452857	G	A	195452857	2	1	435	1	0	0	0	0	0	0	0	1	9976	1306	46	3		3	MUC20	3	195452857	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	424812	195452857	2569573	2169	23094											
MUC4	4585	broad.mit.edu	37	chr3	195475931	195475931	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	taagccttcagcgtgctcacGttcactgtcgggaaggacac	9	9	11	12	3	3	0	3	0	0	0	4	2	3	2	1	2	3	2	1	2	2	3	rs549551495		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:195475931G>A	ENST00000346145.4	-	23	3207	c.3168C>T	c.(3166-3168)aaC>aaT	p.N1056N	MUC4_ENST00000475231.1_Silent_p.N5240N|MUC4_ENST00000463781.3_Silent_p.N5292N|MUC4_ENST00000349607.4_Silent_p.N1005N	NM_004532.5	NP_004523.3	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	2049					cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GCGTGCTCACGTTCACTGTCG	0.517																																						ENST00000463781.3																			0				NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						c.(15874-15876)aaC>aaT		mucin 4, cell surface associated							67	60	63					3																	195475931		2203	4300	6503	SO:0001819	synonymous_variant	4585				cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity	g.chr3:195475931G>A	AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"Mucins"	7514	protein-coding gene	gene with protein product		158372	"mucin 4, tracheobronchial"			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000346145.4:c.3168C>T	3.37:g.195475931G>A						MUC4_ENST00000475231.1_Silent_p.N5240N|MUC4_ENST00000349607.4_Silent_p.N1005N|MUC4_ENST00000346145.4_Silent_p.N1056N	p.N5292N	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)	24	16335	-	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	2049					O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Silent	SNP	ENST00000346145.4	37	c.15876C>T	CCDS3310.1																																																																																				0.517	MUC4-015	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341862.1	NM_018406		4	23	0	0	0	1	0	4	23					A	195475931	G	A	195475931	2	1	435	1	0	0	0	0	0	0	0	1	9978	1136	40	1		1	MUC4	3	195475931	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	23074	195475931	2546499	2170	23095											
MUC4	4585	broad.mit.edu	37	chr3	195505287	195505287	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggggtggtgatgtggctgtgCgtctcccaccgtctgtcttc	2	13	15	11	2	3	1	0	1	3	0	5	1	3	1	2	4	1	1	2	4	0	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:195505287C>T	ENST00000346145.4	-	2	161	c.122G>A	c.(121-123)cGc>cAc	p.R41H	MUC4_ENST00000475231.1_Missense_Mutation_p.R4277H|MUC4_ENST00000463781.3_Missense_Mutation_p.R4277H|MUC4_ENST00000349607.4_Intron	NM_004532.5	NP_004523.3	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	1034			A -> P (in dbSNP:rs3107764). {ECO:0000269|PubMed:10920259, ECO:0000269|PubMed:12084055}.		cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		TGTGGCTGTGCGTCTCCCACC	0.557																																						ENST00000463781.3																			0				NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						c.(12829-12831)cGc>cAc		mucin 4, cell surface associated							197	160	172					3																	195505287		2200	4293	6493	SO:0001583	missense	4585				cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity	g.chr3:195505287C>T	AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"Mucins"	7514	protein-coding gene	gene with protein product		158372	"mucin 4, tracheobronchial"			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000346145.4:c.122G>A	3.37:g.195505287C>T	ENSP00000304207:p.Arg41His					MUC4_ENST00000475231.1_Missense_Mutation_p.R4277H|MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_Missense_Mutation_p.R41H	p.R4277H	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)	3	13289	-	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	1034					O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Missense_Mutation	SNP	ENST00000346145.4	37	c.12830G>A	CCDS3310.1	.	.	.	.	.	.	.	.	.	.	c	16.08	3.020222	0.54576	.	.	ENSG00000145113	ENST00000346145;ENST00000463781;ENST00000475231;ENST00000392409	T;T;T	0.32515	1.46;1.46;1.45	3.04	3.04	0.35103	.	0.803692	0.10987	N	0.612032	T	0.19005	0.0456	N	0.08118	0	0.09310	N	1	D;D;D	0.63880	0.993;0.99;0.969	B;P;B	0.45099	0.347;0.469;0.276	T	0.06041	-1.0849	10	0.54805	T	0.06	-9.6027	9.8588	0.41101	0.0:1.0:0.0:0.0	.	4149;1034;41	E7ESK3;Q99102;Q99102-13	.;MUC4_HUMAN;.	H	41;4277;4277;1003	ENSP00000304207:R41H;ENSP00000417498:R4277H;ENSP00000420243:R4277H	ENSP00000304207:R41H	R	-	2	0	MUC4	196990066	0.002000	0.14202	0.030000	0.17652	0.001000	0.01503	0.340000	0.19892	2.009000	0.58944	0.633000	0.83428	CGC		0.557	MUC4-015	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341862.1	NM_018406		21	26	0	0	0	1	0	21	26					T	195505287	C	T	195505287	3	4	435	1	0	0	0	0	1	0	0	0	9978	768	27	1	3500	1	MUC4	3	195505287	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	29356	195505287	2517143	2171	23096											
TNK2	10188	broad.mit.edu	37	chr3	195594514	195594514	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcaggaagcgctggtagcgCtccaggtaggatggtcgctc	7	7	16	11	4	0	0	0	0	0	0	3	2	1	2	1	5	2	6	1	5	3	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:195594514C>A	ENST00000333602.6	-	12	3227	c.2610G>T	c.(2608-2610)gaG>gaT	p.E870D	TNK2_ENST00000381916.2_Missense_Mutation_p.E948D|TNK2_ENST00000392400.1_Missense_Mutation_p.E870D|TNK2_ENST00000428187.1_Missense_Mutation_p.E902D	NM_005781.4	NP_005772.3	Q07912	ACK1_HUMAN	tyrosine kinase, non-receptor, 2	870	EBD domain. {ECO:0000250}.|Pro-rich.			Missing (in Ref. 4; AAH08884). {ECO:0000305}.	cell surface receptor signaling pathway (GO:0007166)|endocytosis (GO:0006897)|negative regulation of catalytic activity (GO:0043086)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|regulation of clathrin-mediated endocytosis (GO:2000369)|small GTPase mediated signal transduction (GO:0007264)	axon (GO:0030424)|cell junction (GO:0030054)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|endosome (GO:0005768)|Grb2-EGFR complex (GO:0070436)|growth cone (GO:0030426)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|epidermal growth factor receptor binding (GO:0005154)|GTPase inhibitor activity (GO:0005095)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)|WW domain binding (GO:0050699)			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(11)|ovary(3)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	29	all_cancers(143;6.48e-09)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;1.46e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.3e-19)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;0.000757)	Adenosine triphosphate(DB00171)	GCTGGTAGCGCTCCAGGTAGG	0.697																																						ENST00000333602.6																			0				central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(11)|ovary(3)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	29						c.(2608-2610)gaG>gaT		tyrosine kinase, non-receptor, 2	Adenosine triphosphate(DB00171)						28	28	28					3																	195594514		2201	4294	6495	SO:0001583	missense	10188				positive regulation of peptidyl-tyrosine phosphorylation|protein ubiquitination|small GTPase mediated signal transduction	adherens junction|cytoplasmic vesicle membrane|endosome|nucleus	ATP binding|GTPase inhibitor activity|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding	g.chr3:195594514C>A	L13738	CCDS33927.1, CCDS33928.1	3q29	2013-09-02			ENSG00000061938	ENSG00000061938			19297	protein-coding gene	gene with protein product	"activated Cdc42-associated kinase 1"	606994				8497321, 14506255	Standard	XM_006713460		Approved	p21cdc42Hs, ACK, ACK1	uc003fvt.1	Q07912	OTTHUMG00000155737	ENST00000333602.6:c.2610G>T	3.37:g.195594514C>A	ENSP00000329425:p.Glu870Asp					TNK2_ENST00000381916.2_Missense_Mutation_p.E948D|TNK2_ENST00000428187.1_Missense_Mutation_p.E902D|TNK2_ENST00000392400.1_Missense_Mutation_p.E870D	p.E870D	NM_005781.4	NP_005772.3	Q07912	ACK1_HUMAN	Epithelial(36;3.72e-24)|all cancers(36;1.46e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.3e-19)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;0.000757)	12	3227	-	all_cancers(143;6.48e-09)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	870	Missing (in Ref. 4; AAH08884).		EBD domain (By similarity).|Pro-rich.		Q6ZMQ0|Q8N6U7|Q96H59	Missense_Mutation	SNP	ENST00000333602.6	37	c.2610G>T	CCDS33928.1	.	.	.	.	.	.	.	.	.	.	C	6.698	0.497345	0.12762	.	.	ENSG00000061938	ENST00000333602;ENST00000381916;ENST00000416152;ENST00000428187;ENST00000392400	T;T;T;T;T	0.64991	-0.13;0.03;3.6;0.04;-0.13	5.29	2.41	0.29592	.	0.056628	0.64402	D	0.000001	T	0.36853	0.0982	N	0.11064	0.09	0.80722	D	1	B;B;B;B	0.20459	0.015;0.009;0.001;0.045	B;B;B;B	0.25987	0.01;0.006;0.002;0.065	T	0.03933	-1.0991	10	0.20519	T	0.43	.	5.399	0.16284	0.0:0.516:0.2293:0.2547	.	870;948;902;395	Q07912;Q07912-3;C9J1X3;B3KXJ4	ACK1_HUMAN;.;.;.	D	870;948;437;902;870	ENSP00000329425:E870D;ENSP00000371341:E948D;ENSP00000398614:E437D;ENSP00000392546:E902D;ENSP00000376201:E870D	ENSP00000329425:E870D	E	-	3	2	TNK2	197078911	0.987000	0.35691	1.000000	0.80357	0.789000	0.44602	0.151000	0.16283	0.182000	0.20032	0.563000	0.77884	GAG		0.697	TNK2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341437.3	NM_005781		6	17	1	0	0.248553	1	0.248844	6	17					A	195594514	C	A	195594514	3	1	435	1	0	0	0	0	1	0	0	0	16315	796	28	5	522	5	TNK2	3	195594514	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	89227	195594514	2427916	2172	23097											
TNK2	10188	broad.mit.edu	37	chr3	195599151	195599151	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cccgcccagtactcactcgtCaatcctgtccgggaagcccc	7	7	8	19	3	2	0	2	0	0	0	5	1	4	1	6	1	2	1	6	1	3	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:195599151C>T	ENST00000333602.6	-	10	2064	c.1447G>A	c.(1447-1449)Gac>Aac	p.D483N	TNK2_ENST00000316664.3_Missense_Mutation_p.D483N|TNK2_ENST00000381916.2_Missense_Mutation_p.D546N|TNK2_ENST00000392400.1_Missense_Mutation_p.D483N|TNK2_ENST00000428187.1_Missense_Mutation_p.D515N	NM_005781.4	NP_005772.3	Q07912	ACK1_HUMAN	tyrosine kinase, non-receptor, 2	483				Missing (in Ref. 4; AAH08884). {ECO:0000305}.	cell surface receptor signaling pathway (GO:0007166)|endocytosis (GO:0006897)|negative regulation of catalytic activity (GO:0043086)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|regulation of clathrin-mediated endocytosis (GO:2000369)|small GTPase mediated signal transduction (GO:0007264)	axon (GO:0030424)|cell junction (GO:0030054)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|endosome (GO:0005768)|Grb2-EGFR complex (GO:0070436)|growth cone (GO:0030426)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|epidermal growth factor receptor binding (GO:0005154)|GTPase inhibitor activity (GO:0005095)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)|WW domain binding (GO:0050699)			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(11)|ovary(3)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	29	all_cancers(143;6.48e-09)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;1.46e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.3e-19)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;0.000757)	Adenosine triphosphate(DB00171)	ACTCACTCGTCAATCCTGTCC	0.662																																						ENST00000333602.6																			0				central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(11)|ovary(3)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	29						c.(1447-1449)Gac>Aac		tyrosine kinase, non-receptor, 2	Adenosine triphosphate(DB00171)						39	33	35					3																	195599151		2203	4300	6503	SO:0001583	missense	10188				positive regulation of peptidyl-tyrosine phosphorylation|protein ubiquitination|small GTPase mediated signal transduction	adherens junction|cytoplasmic vesicle membrane|endosome|nucleus	ATP binding|GTPase inhibitor activity|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding	g.chr3:195599151C>T	L13738	CCDS33927.1, CCDS33928.1	3q29	2013-09-02			ENSG00000061938	ENSG00000061938			19297	protein-coding gene	gene with protein product	"activated Cdc42-associated kinase 1"	606994				8497321, 14506255	Standard	XM_006713460		Approved	p21cdc42Hs, ACK, ACK1	uc003fvt.1	Q07912	OTTHUMG00000155737	ENST00000333602.6:c.1447G>A	3.37:g.195599151C>T	ENSP00000329425:p.Asp483Asn					TNK2_ENST00000316664.3_Missense_Mutation_p.D483N|TNK2_ENST00000381916.2_Missense_Mutation_p.D546N|TNK2_ENST00000428187.1_Missense_Mutation_p.D515N|TNK2_ENST00000392400.1_Missense_Mutation_p.D483N	p.D483N	NM_005781.4	NP_005772.3	Q07912	ACK1_HUMAN	Epithelial(36;3.72e-24)|all cancers(36;1.46e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.3e-19)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;0.000757)	10	2064	-	all_cancers(143;6.48e-09)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	483	Missing (in Ref. 4; AAH08884).				Q6ZMQ0|Q8N6U7|Q96H59	Missense_Mutation	SNP	ENST00000333602.6	37	c.1447G>A	CCDS33928.1	.	.	.	.	.	.	.	.	.	.	C	24.7	4.558875	0.86231	.	.	ENSG00000061938	ENST00000333602;ENST00000381916;ENST00000416152;ENST00000428187;ENST00000392400;ENST00000411741;ENST00000316664	T;T;T;T;T;T;T	0.50001	0.76;0.76;0.76;0.76;0.76;0.76;0.76	5.45	5.45	0.79879	GTPase binding (1);	0.000000	0.85682	D	0.000000	T	0.68760	0.3036	M	0.73217	2.22	0.58432	D	0.999991	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.996;1.0;0.999;0.998	T	0.68780	-0.5318	10	0.48119	T	0.1	.	17.8525	0.88751	0.0:1.0:0.0:0.0	.	359;483;546;515	Q59FX1;Q07912;Q07912-3;C9J1X3	.;ACK1_HUMAN;.;.	N	483;546;35;515;483;128;483	ENSP00000329425:D483N;ENSP00000371341:D546N;ENSP00000398614:D35N;ENSP00000392546:D515N;ENSP00000376201:D483N;ENSP00000415126:D128N;ENSP00000323216:D483N	ENSP00000323216:D483N	D	-	1	0	TNK2	197083548	1.000000	0.71417	0.233000	0.24025	0.296000	0.27459	7.361000	0.79497	2.569000	0.86673	0.561000	0.74099	GAC		0.662	TNK2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341437.3	NM_005781		13	13	0	0	0	1	0	13	13					T	195599151	C	T	195599151	3	4	435	1	0	0	0	0	1	0	0	0	16315	826	29	3	1742	3	TNK2	3	195599151	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	4637	195599151	2423279	2173	23098											
TNK2	10188	broad.mit.edu	37	chr3	195611759	195611759	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacccagcttctccaggaggCgcaggtccttctccccaatg	7	8	9	17	1	2	0	0	0	2	0	5	1	3	1	5	3	1	2	5	3	1	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:195611759C>T	ENST00000333602.6	-	4	997	c.380G>A	c.(379-381)cGc>cAc	p.R127H	TNK2_ENST00000316664.3_Missense_Mutation_p.R127H|TNK2_ENST00000381916.2_Missense_Mutation_p.R190H|TNK2_ENST00000468819.1_5'UTR|TNK2_ENST00000392400.1_Missense_Mutation_p.R127H|TNK2_ENST00000428187.1_Missense_Mutation_p.R159H	NM_005781.4	NP_005772.3	Q07912	ACK1_HUMAN	tyrosine kinase, non-receptor, 2	127	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell surface receptor signaling pathway (GO:0007166)|endocytosis (GO:0006897)|negative regulation of catalytic activity (GO:0043086)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|regulation of clathrin-mediated endocytosis (GO:2000369)|small GTPase mediated signal transduction (GO:0007264)	axon (GO:0030424)|cell junction (GO:0030054)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|endosome (GO:0005768)|Grb2-EGFR complex (GO:0070436)|growth cone (GO:0030426)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|epidermal growth factor receptor binding (GO:0005154)|GTPase inhibitor activity (GO:0005095)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)|WW domain binding (GO:0050699)			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(11)|ovary(3)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	29	all_cancers(143;6.48e-09)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;1.46e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.3e-19)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;0.000757)	Adenosine triphosphate(DB00171)	CTCCAGGAGGCGCAGGTCCTT	0.682																																						ENST00000333602.6																			0				central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(11)|ovary(3)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	29						c.(379-381)cGc>cAc		tyrosine kinase, non-receptor, 2	Adenosine triphosphate(DB00171)						39	39	39					3																	195611759		2203	4300	6503	SO:0001583	missense	10188				positive regulation of peptidyl-tyrosine phosphorylation|protein ubiquitination|small GTPase mediated signal transduction	adherens junction|cytoplasmic vesicle membrane|endosome|nucleus	ATP binding|GTPase inhibitor activity|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding	g.chr3:195611759C>T	L13738	CCDS33927.1, CCDS33928.1	3q29	2013-09-02			ENSG00000061938	ENSG00000061938			19297	protein-coding gene	gene with protein product	"activated Cdc42-associated kinase 1"	606994				8497321, 14506255	Standard	XM_006713460		Approved	p21cdc42Hs, ACK, ACK1	uc003fvt.1	Q07912	OTTHUMG00000155737	ENST00000333602.6:c.380G>A	3.37:g.195611759C>T	ENSP00000329425:p.Arg127His					TNK2_ENST00000468819.1_5'UTR|TNK2_ENST00000316664.3_Missense_Mutation_p.R127H|TNK2_ENST00000381916.2_Missense_Mutation_p.R190H|TNK2_ENST00000428187.1_Missense_Mutation_p.R159H|TNK2_ENST00000392400.1_Missense_Mutation_p.R127H	p.R127H	NM_005781.4	NP_005772.3	Q07912	ACK1_HUMAN	Epithelial(36;3.72e-24)|all cancers(36;1.46e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.3e-19)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;0.000757)	4	997	-	all_cancers(143;6.48e-09)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	127			Protein kinase.		Q6ZMQ0|Q8N6U7|Q96H59	Missense_Mutation	SNP	ENST00000333602.6	37	c.380G>A	CCDS33928.1	.	.	.	.	.	.	.	.	.	.	C	13.09	2.131882	0.37630	.	.	ENSG00000061938	ENST00000333602;ENST00000381916;ENST00000428187;ENST00000392400;ENST00000316664	D;D;D;D;D	0.82711	-1.64;-1.64;-1.64;-1.64;-1.64	4.92	0.347	0.16022	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.540080	0.18583	N	0.136971	T	0.73210	0.3558	L	0.50333	1.59	0.25959	N	0.98265	B;B;B;B	0.09022	0.002;0.001;0.002;0.0	B;B;B;B	0.01281	0.0;0.0;0.0;0.0	T	0.56962	-0.7892	10	0.23302	T	0.38	.	7.3519	0.26695	0.0:0.5495:0.2658:0.1847	.	127;127;190;159	Q07912-2;Q07912;Q07912-3;C9J1X3	.;ACK1_HUMAN;.;.	H	127;190;159;127;127	ENSP00000329425:R127H;ENSP00000371341:R190H;ENSP00000392546:R159H;ENSP00000376201:R127H;ENSP00000323216:R127H	ENSP00000323216:R127H	R	-	2	0	TNK2	197096156	0.534000	0.26362	0.926000	0.36857	0.960000	0.62799	0.874000	0.28065	0.107000	0.17824	0.407000	0.27541	CGC		0.682	TNK2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341437.3	NM_005781		5	14	0	0	0	1	0	5	14					T	195611759	C	T	195611759	3	4	435	1	0	0	0	0	1	0	0	0	16315	768	27	1	2833	1	TNK2	3	195611759	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	12608	195611759	2410671	2174	23099											
TFRC	7037	broad.mit.edu	37	chr3	195782158	195782158	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tccatggtggtacccaaataAggataatctgtgtcctgcaa	12	11	9	9	0	1	0	0	0	1	0	3	1	3	1	3	3	2	2	3	3	5	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:195782158A>C	ENST00000360110.4	-	17	1861	c.1692T>G	c.(1690-1692)ccT>ccG	p.P564P	TFRC_ENST00000465288.1_5'Flank|TFRC_ENST00000540528.1_3'UTR|TFRC_ENST00000535031.1_Silent_p.P282P|TFRC_ENST00000392396.3_Silent_p.P564P|TFRC_ENST00000420415.1_Silent_p.P483P	NM_001128148.1	NP_001121620.1	P02786	TFR1_HUMAN	transferrin receptor	564					cellular iron ion homeostasis (GO:0006879)|iron ion import (GO:0097286)|osteoclast differentiation (GO:0030316)|positive regulation of bone resorption (GO:0045780)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	blood microparticle (GO:0072562)|cell surface (GO:0009986)|coated pit (GO:0005905)|cytoplasmic membrane-bounded vesicle (GO:0016023)|endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)|vesicle (GO:0031982)	double-stranded RNA binding (GO:0003725)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|transferrin receptor activity (GO:0004998)			NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	all_cancers(143;1.94e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;1.36e-24)|all cancers(36;3.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.17e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00233)	Gallium nitrate(DB05260)	TACCCAAATAAGGATAATCTG	0.502			T	BCL6	NHL																																	ENST00000360110.4				Dom	yes		3	3q29	7037	T	"transferrin receptor (p90, CD71)"			L	BCL6		NHL		0				NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(1690-1692)ccT>ccG		transferrin receptor							89	82	84					3																	195782158		2203	4300	6503	SO:0001819	synonymous_variant	7037				cellular iron ion homeostasis|endocytosis|interspecies interaction between organisms|proteolysis|transferrin transport|transmembrane transport	coated pit|endosome|integral to plasma membrane|melanosome	peptidase activity|transferrin receptor activity	g.chr3:195782158A>C	X01060	CCDS3312.1	3q29	2013-09-19	2013-09-19		ENSG00000072274	ENSG00000072274		"CD molecules"	11763	protein-coding gene	gene with protein product		190010	"transferrin receptor (p90, CD71)"				Standard	NM_003234		Approved	CD71, TFR1, p90	uc003fwa.4	P02786	OTTHUMG00000155714	ENST00000360110.4:c.1692T>G	3.37:g.195782158A>C						TFRC_ENST00000392396.3_Silent_p.P564P|TFRC_ENST00000540528.1_3'UTR|TFRC_ENST00000535031.1_Silent_p.P282P|TFRC_ENST00000420415.1_Silent_p.P483P	p.P564P	NM_001128148.1	NP_001121620.1	P02786	TFR1_HUMAN	Epithelial(36;1.36e-24)|all cancers(36;3.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.17e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00233)	17	1861	-	all_cancers(143;1.94e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		564					D3DXB0|Q1HE24|Q59G55|Q9UCN0|Q9UCU5|Q9UDF9|Q9UK21	Silent	SNP	ENST00000360110.4	37	c.1692T>G	CCDS3312.1																																																																																				0.502	TFRC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341346.1			7	42	0	0	0	1	0	7	42					C	195782158	A	C	195782158	2	2	435	1	0	0	0	0	0	0	0	1	15809	59	3	5		5	TFRC	3	195782158	Silent	SNP	A	TCGA-XK-AAIW-01A-11D-A41K-08	170399	195782158	2240272	2175	23100											
TFRC	7037	broad.mit.edu	37	chr3	195796403	195796403	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtgtataaatcctcaaaatCttttttagtaccaaaattag	16	15	4	6	0	2	0	1	0	1	0	3	0	3	0	2	0	1	2	2	0	10	7			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:195796403C>A	ENST00000360110.4	-	7	893	c.724G>T	c.(724-726)Gat>Tat	p.D242Y	TFRC_ENST00000540528.1_3'UTR|TFRC_ENST00000535031.1_5'UTR|TFRC_ENST00000392396.3_Missense_Mutation_p.D242Y|TFRC_ENST00000420415.1_Missense_Mutation_p.D161Y	NM_001128148.1	NP_001121620.1	P02786	TFR1_HUMAN	transferrin receptor	242	PA.				cellular iron ion homeostasis (GO:0006879)|iron ion import (GO:0097286)|osteoclast differentiation (GO:0030316)|positive regulation of bone resorption (GO:0045780)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	blood microparticle (GO:0072562)|cell surface (GO:0009986)|coated pit (GO:0005905)|cytoplasmic membrane-bounded vesicle (GO:0016023)|endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)|vesicle (GO:0031982)	double-stranded RNA binding (GO:0003725)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|transferrin receptor activity (GO:0004998)			NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	all_cancers(143;1.94e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;1.36e-24)|all cancers(36;3.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.17e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00233)	Gallium nitrate(DB05260)	TCCTCAAAATCTTTTTTAGTA	0.343			T	BCL6	NHL																																	ENST00000360110.4				Dom	yes		3	3q29	7037	T	"transferrin receptor (p90, CD71)"			L	BCL6		NHL		0				NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(724-726)Gat>Tat		transferrin receptor							61	64	63					3																	195796403		2203	4299	6502	SO:0001583	missense	7037				cellular iron ion homeostasis|endocytosis|interspecies interaction between organisms|proteolysis|transferrin transport|transmembrane transport	coated pit|endosome|integral to plasma membrane|melanosome	peptidase activity|transferrin receptor activity	g.chr3:195796403C>A	X01060	CCDS3312.1	3q29	2013-09-19	2013-09-19		ENSG00000072274	ENSG00000072274		"CD molecules"	11763	protein-coding gene	gene with protein product		190010	"transferrin receptor (p90, CD71)"				Standard	NM_003234		Approved	CD71, TFR1, p90	uc003fwa.4	P02786	OTTHUMG00000155714	ENST00000360110.4:c.724G>T	3.37:g.195796403C>A	ENSP00000353224:p.Asp242Tyr					TFRC_ENST00000392396.3_Missense_Mutation_p.D242Y|TFRC_ENST00000540528.1_3'UTR|TFRC_ENST00000535031.1_5'UTR|TFRC_ENST00000420415.1_Missense_Mutation_p.D161Y	p.D242Y	NM_001128148.1	NP_001121620.1	P02786	TFR1_HUMAN	Epithelial(36;1.36e-24)|all cancers(36;3.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.17e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00233)	7	893	-	all_cancers(143;1.94e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		242			PA.		D3DXB0|Q1HE24|Q59G55|Q9UCN0|Q9UCU5|Q9UDF9|Q9UK21	Missense_Mutation	SNP	ENST00000360110.4	37	c.724G>T	CCDS3312.1	.	.	.	.	.	.	.	.	.	.	C	18.92	3.725157	0.68959	.	.	ENSG00000072274	ENST00000360110;ENST00000420415;ENST00000392396	T;T;T	0.33654	1.4;1.4;1.4	4.45	4.45	0.53987	Protease-associated domain, PA (1);	0.142317	0.64402	D	0.000009	T	0.73337	0.3574	H	0.98388	4.22	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.83121	-0.0118	10	0.87932	D	0	-22.0887	12.7656	0.57391	0.0:1.0:0.0:0.0	.	242	P02786	TFR1_HUMAN	Y	242;161;242	ENSP00000353224:D242Y;ENSP00000390133:D161Y;ENSP00000376197:D242Y	ENSP00000353224:D242Y	D	-	1	0	TFRC	197280800	1.000000	0.71417	0.981000	0.43875	0.786000	0.44442	6.323000	0.72891	2.462000	0.83206	0.655000	0.94253	GAT		0.343	TFRC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341346.1			13	16	1	0	1.02788e-11	1	1.10723e-11	13	16					A	195796403	C	A	195796403	3	1	435	1	0	0	0	0	1	0	0	0	15809	913	32	5	1610	5	TFRC	3	195796403	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	14245	195796403	2226027	2176	23101											
OSTalpha	200931	broad.mit.edu	37	chr3	195955719	195955719	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atgttgggccctttccaataCgccttcttgaagataacgct	9	13	8	11	2	1	2	0	1	1	1	2	2	2	2	3	1	2	2	3	1	4	6			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:195955719C>T	ENST00000296327.5	+	6	770	c.561C>T	c.(559-561)taC>taT	p.Y187Y		NM_152672.5	NP_689885.4	Q86UW1	OSTA_HUMAN	solute carrier family 51, alpha subunit	187					bile acid and bile salt transport (GO:0015721)|transport (GO:0006810)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|transporter activity (GO:0005215)									Conjugated Estrogens(DB00286)|Digoxin(DB00390)|Dinoprostone(DB00917)	CTTTCCAATACGCCTTCTTGA	0.582																																						ENST00000296327.5																			0											c.(559-561)taC>taT		solute carrier family 51, alpha subunit							153	138	143					3																	195955719		2203	4300	6503	SO:0001819	synonymous_variant	200931							g.chr3:195955719C>T		CCDS3314.1	3q29	2013-05-22			ENSG00000163959	ENSG00000163959		"Solute carriers"	29955	protein-coding gene	gene with protein product	"organic solute transporter, alpha subunit"	612084				12719432, 20538072	Standard	NM_152672		Approved	OSTalpha	uc003fwd.3	Q86UW1	OTTHUMG00000155684	ENST00000296327.5:c.561C>T	3.37:g.195955719C>T							p.Y187Y	NM_152672.5	NP_689885.4					6	770	+								Q6ZMC7	Silent	SNP	ENST00000296327.5	37	c.561C>T	CCDS3314.1	.	.	.	.	.	.	.	.	.	.	C	1.466	-0.561187	0.03939	.	.	ENSG00000163959	ENST00000428985	.	.	.	5.97	-0.864	0.10666	.	.	.	.	.	T	0.53610	0.1807	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.46359	-0.9197	4	.	.	.	-18.9858	7.6986	0.28608	0.0:0.4081:0.1211:0.4708	.	.	.	.	M	200	.	.	T	+	2	0	AC069257.9	197440116	0.057000	0.20700	0.995000	0.50966	0.208000	0.24298	-1.286000	0.02788	-0.084000	0.12595	-0.290000	0.09829	ACG		0.582	SLC51A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341253.1	NM_152672		4	111	0	0	0	1	0	4	111					T	195955719	C	T	195955719	2	4	435	1	0	0	0	0	0	0	0	1	11300	547	19	1		1	OSTalpha	3	195955719	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	159316	195955719	2066711	2177	23102											
PCYT1A	5130	broad.mit.edu	37	chr3	195968904	195968904	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	catcataatcccgcacaattCgggtgatgatgtctgatgtg	10	12	10	9	2	2	3	1	3	1	0	4	3	3	3	1	1	0	1	1	1	2	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:195968904C>T	ENST00000292823.2	-	8	795	c.623G>A	c.(622-624)cGa>cAa	p.R208Q	PCYT1A_ENST00000419333.1_Missense_Mutation_p.R208Q|PCYT1A_ENST00000431016.1_Missense_Mutation_p.R208Q	NM_005017.2	NP_005008.2	P49585	PCY1A_HUMAN	phosphate cytidylyltransferase 1, choline, alpha	208					CDP-choline pathway (GO:0006657)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|glycogen granule (GO:0042587)	choline-phosphate cytidylyltransferase activity (GO:0004105)|lipid binding (GO:0008289)			cervix(1)|endometrium(3)|large_intestine(8)|lung(5)|ovary(1)	18	all_cancers(143;1.19e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;1.28e-24)|all cancers(36;1.01e-22)|OV - Ovarian serous cystadenocarcinoma(49;3.88e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00259)	Choline(DB00122)|Lamivudine(DB00709)	CCGCACAATTCGGGTGATGAT	0.483																																						ENST00000292823.2																			0				cervix(1)|endometrium(3)|large_intestine(8)|lung(5)|ovary(1)	18						c.(622-624)cGa>cAa		phosphate cytidylyltransferase 1, choline, alpha	Choline(DB00122)						146	123	131					3																	195968904		2203	4300	6503	SO:0001583	missense	5130					cytosol|soluble fraction	choline-phosphate cytidylyltransferase activity	g.chr3:195968904C>T	L28957	CCDS3315.1	3q29	2010-07-19	2005-09-05		ENSG00000161217	ENSG00000161217	2.7.7.15		8754	protein-coding gene	gene with protein product	"phosphate cytidylyltransferase 1, choline, alpha isoform"	123695	"phosphate cytidylyltransferase 1, choline, alpha isoform"	PCYT1		7918629	Standard	NM_005017		Approved	CT, CTPCT	uc003fwg.3	P49585	OTTHUMG00000155670	ENST00000292823.2:c.623G>A	3.37:g.195968904C>T	ENSP00000292823:p.Arg208Gln					PCYT1A_ENST00000419333.1_Missense_Mutation_p.R208Q|PCYT1A_ENST00000431016.1_Missense_Mutation_p.R208Q	p.R208Q	NM_005017.2	NP_005008.2	P49585	PCY1A_HUMAN	Epithelial(36;1.28e-24)|all cancers(36;1.01e-22)|OV - Ovarian serous cystadenocarcinoma(49;3.88e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00259)	8	795	-	all_cancers(143;1.19e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		208			Catalytic (Potential).		A9LYK9|D3DXB1|Q86Y88	Missense_Mutation	SNP	ENST00000292823.2	37	c.623G>A	CCDS3315.1	.	.	.	.	.	.	.	.	.	.	C	36	5.808046	0.96967	.	.	ENSG00000161217	ENST00000419333;ENST00000292823;ENST00000416798;ENST00000431016;ENST00000411591;ENST00000433733;ENST00000430755	D;D;D;D;D;D	0.97041	-4.22;-4.22;-4.22;-4.22;-4.22;-4.22	5.65	5.65	0.86999	Cytidylyltransferase (1);Rossmann-like alpha/beta/alpha sandwich fold (1);	0.000000	0.85682	D	0.000000	D	0.99058	0.9677	H	0.99156	4.45	0.80722	D	1	D	0.76494	0.999	P	0.56865	0.808	D	0.99177	1.0866	10	0.87932	D	0	-55.2098	18.7797	0.91926	0.0:1.0:0.0:0.0	.	208	P49585	PCY1A_HUMAN	Q	208;208;169;208;208;81;142	ENSP00000390968:R208Q;ENSP00000292823:R208Q;ENSP00000394617:R208Q;ENSP00000400430:R208Q;ENSP00000390458:R81Q;ENSP00000402283:R142Q	ENSP00000292823:R208Q	R	-	2	0	PCYT1A	197453301	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.484000	0.81180	2.685000	0.91497	0.650000	0.86243	CGA		0.483	PCYT1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341147.1	NM_005017		36	48	0	0	0	1	0	36	48					T	195968904	C	T	195968904	3	4	435	1	0	0	0	0	1	0	0	0	11610	884	31	2	492	2	PCYT1A	3	195968904	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	13185	195968904	2053526	2178	23103											
PCYT1A	5130	broad.mit.edu	37	chr3	195975094	195975094	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttacctcccacaatgaggtaCgtattagggaaaaggttctt	12	12	9	8	1	1	1	0	1	1	0	2	2	2	2	2	3	2	3	2	3	7	6	rs370000604		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:195975094C>T	ENST00000292823.2	-	5	490	c.318G>A	c.(316-318)acG>acA	p.T106T	AC069257.8_ENST00000608995.1_RNA|PCYT1A_ENST00000419333.1_Silent_p.T106T|PCYT1A_ENST00000491544.1_5'UTR|PCYT1A_ENST00000431016.1_Silent_p.T106T|AC069257.8_ENST00000425275.1_RNA	NM_005017.2	NP_005008.2	P49585	PCY1A_HUMAN	phosphate cytidylyltransferase 1, choline, alpha	106					CDP-choline pathway (GO:0006657)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|glycogen granule (GO:0042587)	choline-phosphate cytidylyltransferase activity (GO:0004105)|lipid binding (GO:0008289)			cervix(1)|endometrium(3)|large_intestine(8)|lung(5)|ovary(1)	18	all_cancers(143;1.19e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;1.28e-24)|all cancers(36;1.01e-22)|OV - Ovarian serous cystadenocarcinoma(49;3.88e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00259)	Choline(DB00122)|Lamivudine(DB00709)	CAATGAGGTACGTATTAGGGA	0.458																																						ENST00000292823.2																			0				cervix(1)|endometrium(3)|large_intestine(8)|lung(5)|ovary(1)	18						c.(316-318)acG>acA		phosphate cytidylyltransferase 1, choline, alpha	Choline(DB00122)			0,4406		0,0,2203	153	148	149		318	-0.9	1	3		149	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	PCYT1A	NM_005017.2		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		106/368	195975094	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	5130					cytosol|soluble fraction	choline-phosphate cytidylyltransferase activity	g.chr3:195975094C>T	L28957	CCDS3315.1	3q29	2010-07-19	2005-09-05		ENSG00000161217	ENSG00000161217	2.7.7.15		8754	protein-coding gene	gene with protein product	"phosphate cytidylyltransferase 1, choline, alpha isoform"	123695	"phosphate cytidylyltransferase 1, choline, alpha isoform"	PCYT1		7918629	Standard	NM_005017		Approved	CT, CTPCT	uc003fwg.3	P49585	OTTHUMG00000155670	ENST00000292823.2:c.318G>A	3.37:g.195975094C>T						PCYT1A_ENST00000491544.1_5'UTR|PCYT1A_ENST00000419333.1_Silent_p.T106T|PCYT1A_ENST00000431016.1_Silent_p.T106T	p.T106T	NM_005017.2	NP_005008.2	P49585	PCY1A_HUMAN	Epithelial(36;1.28e-24)|all cancers(36;1.01e-22)|OV - Ovarian serous cystadenocarcinoma(49;3.88e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00259)	5	490	-	all_cancers(143;1.19e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		106			Catalytic (Potential).		A9LYK9|D3DXB1|Q86Y88	Silent	SNP	ENST00000292823.2	37	c.318G>A	CCDS3315.1																																																																																				0.458	PCYT1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341147.1	NM_005017		46	66	0	0	0	1	0	46	66					T	195975094	C	T	195975094	2	4	435	1	0	0	0	0	0	0	0	1	11610	523	19	1		1	PCYT1A	3	195975094	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	6190	195975094	2047336	2179	23104											
C3orf43	255798	broad.mit.edu	37	chr3	196236507	196236507	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtgaagtctagttctttgaaCtgtgtttctaacgcttggag	8	16	11	6	1	3	2	0	2	3	0	3	3	3	3	0	1	2	3	0	1	4	6			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:196236507C>T	ENST00000397537.2	-	2	240	c.84G>A	c.(82-84)caG>caA	p.Q28Q		NM_001077657.1	NP_001071125.1	Q147U7	SMCO1_HUMAN	single-pass membrane protein with coiled-coil domains 1	28						integral component of membrane (GO:0016021)											GTTCTTTGAACTGTGTTTCTA	0.413																																						ENST00000397537.2																			0											c.(82-84)caG>caA		single-pass membrane protein with coiled-coil domains 1							245	220	228					3																	196236507		1891	4122	6013	SO:0001819	synonymous_variant	255798							g.chr3:196236507C>T	AK123917	CCDS43192.1	3q29	2013-03-08	2013-03-08	2013-03-08	ENSG00000214097	ENSG00000214097			27407	protein-coding gene	gene with protein product			"chromosome 3 open reading frame 43"	C3orf43			Standard	NM_001077657		Approved	FLJ41923, DKFZp313B0440		Q147U7	OTTHUMG00000155581	ENST00000397537.2:c.84G>A	3.37:g.196236507C>T							p.Q28Q	NM_001077657.1	NP_001071125.1					2	240	-								B3KW20	Silent	SNP	ENST00000397537.2	37	c.84G>A	CCDS43192.1																																																																																				0.413	SMCO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340776.1	NM_001006109		25	34	0	0	0	1	0	25	34					T	196236507	C	T	196236507	2	4	435	1	0	0	0	0	0	0	0	1	2230	564	20	3		3	C3orf43	3	196236507	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	261413	196236507	1785923	2180	23105											
LRRC33	375387	broad.mit.edu	37	chr3	196386840	196386840	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagcaaggtcacctgcgcaGcctggtcctgggggacaact	8	6	15	12	1	1	0	1	0	0	0	2	2	2	2	3	5	4	2	3	5	2	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:196386840G>T	ENST00000328557.4	+	3	529	c.326G>T	c.(325-327)aGc>aTc	p.S109I		NM_198565.1	NP_940967.1	Q86YC3	NRROS_HUMAN	negative regulator of reactive oxygen species	109					immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|superoxide metabolic process (GO:0006801)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)											CACCTGCGCAGCCTGGTCCTG	0.667																																						ENST00000328557.4																			0											c.(325-327)aGc>aTc		negative regulator of reactive oxygen species							36	36	36					3																	196386840		2203	4300	6503	SO:0001583	missense	375387							g.chr3:196386840G>T	AY358322	CCDS3319.1	3q29	2013-07-02	2013-07-02	2013-07-02	ENSG00000174004	ENSG00000174004			24613	protein-coding gene	gene with protein product		615322	"leucine rich repeat containing 33"	LRRC33		12975309	Standard	NM_198565		Approved	UNQ3030, ELLP3030, MGC50789, GARPL1	uc003fwv.3	Q86YC3	OTTHUMG00000155569	ENST00000328557.4:c.326G>T	3.37:g.196386840G>T	ENSP00000328625:p.Ser109Ile						p.S109I	NM_198565.1	NP_940967.1					3	529	+									Missense_Mutation	SNP	ENST00000328557.4	37	c.326G>T	CCDS3319.1	.	.	.	.	.	.	.	.	.	.	G	10.27	1.304970	0.23736	.	.	ENSG00000174004	ENST00000328557	T	0.00966	5.49	6.07	3.23	0.37069	.	0.298226	0.41823	D	0.000807	T	0.01029	0.0034	L	0.42008	1.315	0.30468	N	0.773642	B	0.32653	0.379	B	0.37650	0.255	T	0.33420	-0.9869	10	0.35671	T	0.21	.	0.5171	0.00605	0.2439:0.2114:0.3276:0.217	.	109	Q86YC3	LRC33_HUMAN	I	109	ENSP00000328625:S109I	ENSP00000328625:S109I	S	+	2	0	LRRC33	197871237	0.214000	0.23563	1.000000	0.80357	0.514000	0.34195	0.011000	0.13264	0.880000	0.35969	0.655000	0.94253	AGC		0.667	NRROS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340676.1	NM_198565		8	9	1	0	1.06961e-07	1	1.12439e-07	8	9					T	196386840	G	T	196386840	3	4	435	1	0	0	0	0	1	0	0	0	8988	971	34	5	332	5	LRRC33	3	196386840	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	150333	196386840	1635590	2181	23106											
PAK2	5062	broad.mit.edu	37	chr3	196547287	196547287	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cacccctgagcagagcaaacGcagtaccatggtcggaacgc	12	4	11	14	3	0	2	0	1	0	1	1	3	0	3	3	2	5	4	3	2	3	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:196547287G>A	ENST00000327134.3	+	13	1521	c.1199G>A	c.(1198-1200)cGc>cAc	p.R400H		NM_002577.4	NP_002568.2	Q13177	PAK2_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 2	400	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|axon guidance (GO:0007411)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in execution phase of apoptosis (GO:2001271)|negative regulation of protein kinase activity (GO:0006469)|peptidyl-serine phosphorylation (GO:0018105)|phosphorylation (GO:0016310)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein tyrosine kinase activity (GO:0061098)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of apoptotic process (GO:0042981)|regulation of defense response to virus by virus (GO:0050690)|regulation of growth (GO:0040008)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activator activity (GO:0030296)			breast(1)|cervix(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)	12	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;1.07e-23)|all cancers(36;6.38e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.5e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00405)		CAGAGCAAACGCAGTACCATG	0.483																																						ENST00000327134.3																			0				breast(1)|cervix(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)	12						c.(1198-1200)cGc>cAc		p21 protein (Cdc42/Rac)-activated kinase 2							125	113	117					3																	196547287		2203	4300	6503	SO:0001583	missense	5062				axon guidance|cellular component disassembly involved in apoptosis|interspecies interaction between organisms|negative regulation of protein kinase activity|peptidyl-serine phosphorylation|positive regulation of peptidyl-tyrosine phosphorylation|protein autophosphorylation|regulation of apoptosis|regulation of defense response to virus by virus|regulation of growth|T cell costimulation|T cell receptor signaling pathway|viral reproduction	cytosol|nucleus|perinuclear region of cytoplasm|plasma membrane	ATP binding|identical protein binding|protein kinase binding|protein serine/threonine kinase activity|protein tyrosine kinase activator activity	g.chr3:196547287G>A	U24153	CCDS3321.1	3q29	2008-06-17	2008-06-17			ENSG00000180370	2.7.11.1		8591	protein-coding gene	gene with protein product	"S6/H4 kinase"	605022	"p21 (CDKN1A)-activated kinase 2"			7744004, 7618083	Standard	NM_002577		Approved	PAK65, PAKgamma	uc003fwy.4	Q13177		ENST00000327134.3:c.1199G>A	3.37:g.196547287G>A	ENSP00000314067:p.Arg400His						p.R400H	NM_002577.4	NP_002568.2	Q13177	PAK2_HUMAN	Epithelial(36;1.07e-23)|all cancers(36;6.38e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.5e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00405)	13	1521	+	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135)		400			Protein kinase.		Q13154|Q6ISC3	Missense_Mutation	SNP	ENST00000327134.3	37	c.1199G>A	CCDS3321.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	26.0|26.0	4.694319|4.694319	0.88830|0.88830	.|.	.|.	ENSG00000180370|ENSG00000180370	ENST00000426668|ENST00000327134	.|T	.|0.65178	.|-0.14	4.69|4.69	4.69|4.69	0.59074|0.59074	.|Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	.|0.056303	.|0.64402	.|D	.|0.000001	T|T	0.76912|0.76912	0.4054|0.4054	L|L	0.58354|0.58354	1.805|1.805	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.97110	.|1.0	T|T	0.79410|0.79410	-0.1815|-0.1815	5|10	.|0.87932	.|D	.|0	.|.	18.1858|18.1858	0.89792|0.89792	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|400	.|Q13177	.|PAK2_HUMAN	T|H	143|400	.|ENSP00000314067:R400H	.|ENSP00000314067:R400H	A|R	+|+	1|2	0|0	PAK2|PAK2	198031684|198031684	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.983000|0.983000	0.72400|0.72400	9.208000|9.208000	0.95075|0.95075	2.593000|2.593000	0.87608|0.87608	0.655000|0.655000	0.94253|0.94253	GCA|CGC		0.483	PAK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340548.1	NM_002577		10	46	0	0	0	1	0	10	46					A	196547287	G	A	196547287	3	1	435	1	0	0	0	0	1	0	0	0	11401	1087	38	1	1245	1	PAK2	3	196547287	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	160447	196547287	1475143	2182	23107											
DLG1	1739	broad.mit.edu	37	chr3	196921376	196921376	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gttcttctctgagacatgaaCcaattctggacctatcactt	10	14	6	11	0	4	2	1	2	3	1	5	4	4	3	2	1	1	1	2	1	3	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:196921376C>T	ENST00000419354.1	-	5	689	c.403G>A	c.(403-405)Gtt>Att	p.V135I	DLG1_ENST00000422288.1_Missense_Mutation_p.V135I|DLG1_ENST00000346964.2_Missense_Mutation_p.V135I|DLG1_ENST00000314062.3_Missense_Mutation_p.V135I|DLG1_ENST00000450955.1_Missense_Mutation_p.V135I|DLG1_ENST00000392382.2_Missense_Mutation_p.V135I|DLG1_ENST00000357674.4_Missense_Mutation_p.V135I|DLG1_ENST00000485409.1_5'UTR|DLG1_ENST00000448528.2_Missense_Mutation_p.V135I			Q12959	DLG1_HUMAN	discs, large homolog 1 (Drosophila)	135					actin filament organization (GO:0007015)|activation of protein kinase activity (GO:0032147)|amyloid precursor protein metabolic process (GO:0042982)|axon guidance (GO:0007411)|branching involved in ureteric bud morphogenesis (GO:0001658)|cortical actin cytoskeleton organization (GO:0030866)|dephosphorylation (GO:0016311)|embryonic skeletal system morphogenesis (GO:0048704)|endothelial cell proliferation (GO:0001935)|establishment or maintenance of cell polarity (GO:0007163)|hard palate development (GO:0060022)|immunological synapse formation (GO:0001771)|lens development in camera-type eye (GO:0002088)|membrane raft organization (GO:0031579)|mitotic cell cycle checkpoint (GO:0007093)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of T cell proliferation (GO:0042130)|nucleotide phosphorylation (GO:0046939)|peristalsis (GO:0030432)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell proliferation (GO:0008284)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of potassium ion transport (GO:0043268)|protein localization to plasma membrane (GO:0072659)|regulation of membrane potential (GO:0042391)|regulation of myelination (GO:0031641)|regulation of sodium ion transmembrane transport (GO:1902305)|reproductive structure development (GO:0048608)|single organismal cell-cell adhesion (GO:0016337)|smooth muscle tissue development (GO:0048745)|synaptic transmission (GO:0007268)|T cell activation (GO:0042110)|T cell cytokine production (GO:0002369)|tight junction assembly (GO:0070830)|viral process (GO:0016032)	basal lamina (GO:0005605)|basolateral plasma membrane (GO:0016323)|cell junction (GO:0030054)|cell projection membrane (GO:0031253)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|immunological synapse (GO:0001772)|intercalated disc (GO:0014704)|lateral loop (GO:0043219)|lateral plasma membrane (GO:0016328)|membrane raft (GO:0045121)|microtubule (GO:0005874)|MPP7-DLG1-LIN7 complex (GO:0097025)|myelin sheath abaxonal region (GO:0035748)|neuromuscular junction (GO:0031594)|node of Ranvier (GO:0033268)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|tight junction (GO:0005923)	cytoskeletal protein binding (GO:0008092)|guanylate kinase activity (GO:0004385)|ion channel binding (GO:0044325)|L27 domain binding (GO:0097016)|mitogen-activated protein kinase kinase binding (GO:0031434)|phosphatase binding (GO:0019902)|phosphoprotein phosphatase activity (GO:0004721)|potassium channel regulator activity (GO:0015459)|protein C-terminus binding (GO:0008022)|protein kinase binding (GO:0019901)			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|liver(1)|lung(9)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	26	all_cancers(143;6.22e-10)|Ovarian(172;0.0418)|Breast(254;0.0589)	Lung NSC(153;0.133)	Epithelial(36;3.23e-24)|all cancers(36;2.15e-22)|OV - Ovarian serous cystadenocarcinoma(49;3.88e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.0148)		GAGACATGAACCAATTCTGGA	0.343																																						ENST00000346964.2																			0				breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|liver(1)|lung(9)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	26						c.(403-405)Gtt>Att		discs, large homolog 1 (Drosophila)							148	142	144					3																	196921376		2203	4299	6502	SO:0001583	missense	1739				actin filament organization|axon guidance|cell-cell adhesion|cortical actin cytoskeleton organization|endothelial cell proliferation|establishment or maintenance of cell polarity|interspecies interaction between organisms|mitotic cell cycle G1/S transition checkpoint|negative regulation of mitotic cell cycle|protein localization in plasma membrane|synaptic transmission|tight junction assembly	basolateral plasma membrane|cytosol|endoplasmic reticulum membrane|immunological synapse|MPP7-DLG1-LIN7 complex|nucleus|postsynaptic density|postsynaptic membrane|sarcolemma|tight junction	cytoskeletal protein binding|guanylate kinase activity|L27 domain binding|phosphatase binding|phosphoprotein phosphatase activity|potassium channel regulator activity|protein binding|protein C-terminus binding|protein kinase binding	g.chr3:196921376C>T	U13897	CCDS3327.1, CCDS43194.1, CCDS56300.1, CCDS56301.1, CCDS75072.1	3q29	2008-12-15	2001-11-28		ENSG00000075711	ENSG00000075711			2900	protein-coding gene	gene with protein product	"discs large homolog 1", "presynaptic protein SAP97", "synapse-associated protein 97"	601014	"discs, large (Drosophila) homolog 1"			7937897, 8825652	Standard	NM_004087		Approved	SAP97, SAP-97, hdlg, DLGH1, dJ1061C18.1.1	uc003fxn.4	Q12959	OTTHUMG00000047972	ENST00000419354.1:c.403G>A	3.37:g.196921376C>T	ENSP00000407531:p.Val135Ile					DLG1_ENST00000357674.4_Missense_Mutation_p.V135I|DLG1_ENST00000485409.1_5'UTR|DLG1_ENST00000314062.3_Missense_Mutation_p.V135I|DLG1_ENST00000419354.1_Missense_Mutation_p.V135I|DLG1_ENST00000450955.1_Missense_Mutation_p.V135I|DLG1_ENST00000448528.2_Missense_Mutation_p.V135I|DLG1_ENST00000422288.1_Missense_Mutation_p.V135I|DLG1_ENST00000392382.2_Missense_Mutation_p.V135I	p.V135I	NM_004087.2	NP_004078.2	Q12959	DLG1_HUMAN	Epithelial(36;3.23e-24)|all cancers(36;2.15e-22)|OV - Ovarian serous cystadenocarcinoma(49;3.88e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.0148)	5	592	-	all_cancers(143;6.22e-10)|Ovarian(172;0.0418)|Breast(254;0.0589)	Lung NSC(153;0.133)	135					A5YKK7|B4DGU1|B4DGZ8|B7ZMM0|B9EIQ5|D3DXB8|D3DXB9|E7EWL7|E9PG21|Q12958	Missense_Mutation	SNP	ENST00000419354.1	37	c.403G>A	CCDS43194.1	.	.	.	.	.	.	.	.	.	.	C	18.33	3.600668	0.66332	.	.	ENSG00000075711	ENST00000346964;ENST00000359922;ENST00000357674;ENST00000381807;ENST00000314062;ENST00000419354;ENST00000422288;ENST00000448528;ENST00000392382;ENST00000450955;ENST00000453607;ENST00000456699;ENST00000392380;ENST00000419553	T;T;T;T;T;T;T;T;T;T;T;T	0.52057	0.68;0.68;0.68;0.68;0.68;0.68;0.68;0.68;0.68;0.68;0.68;0.68	5.67	5.67	0.87782	Membrane-associated guanylate kinase (MAGUK), PEST domain, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.60534	0.2276	M	0.69823	2.125	0.58432	D	0.999999	P;P;P;P	0.49090	0.749;0.864;0.475;0.919	B;P;B;P	0.51516	0.441;0.523;0.372;0.672	T	0.56992	-0.7887	10	0.32370	T	0.25	.	18.7657	0.91871	0.0:1.0:0.0:0.0	.	135;135;135;135	Q12959-4;Q12959-3;Q12959;Q12959-2	.;.;DLG1_HUMAN;.	I	135;135;135;135;135;135;135;135;135;135;39;135;135;135	ENSP00000345731:V135I;ENSP00000350303:V135I;ENSP00000321087:V135I;ENSP00000407531:V135I;ENSP00000413238:V135I;ENSP00000391732:V135I;ENSP00000376187:V135I;ENSP00000411278:V135I;ENSP00000412579:V39I;ENSP00000396474:V135I;ENSP00000376185:V135I;ENSP00000414189:V135I	ENSP00000321087:V135I	V	-	1	0	DLG1	198405773	1.000000	0.71417	1.000000	0.80357	0.512000	0.34134	7.469000	0.80959	2.680000	0.91292	0.655000	0.94253	GTT		0.343	DLG1-008	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000258170.2	NM_004087		17	25	0	0	0	1	0	17	25					T	196921376	C	T	196921376	3	4	435	1	0	0	0	0	1	0	0	0	4554	507	18	3	2503	3	DLG1	3	196921376	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	374089	196921376	1101054	2183	23108											
IQCG	84223	broad.mit.edu	37	chr3	197619592	197619592	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttcatttctgtgtccttatcGtatttctccatccagaactc	7	18	4	12	1	3	1	1	0	2	1	8	1	5	1	3	0	1	1	3	0	3	5	rs202054380		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:197619592G>A	ENST00000265239.6	-	10	1426	c.1002C>T	c.(1000-1002)taC>taT	p.Y334Y	RNU6-858P_ENST00000362436.1_RNA|IQCG_ENST00000455191.1_Silent_p.Y334Y	NM_032263.3	NP_115639.1	Q9H095	IQCG_HUMAN	IQ motif containing G	334						extracellular vesicular exosome (GO:0070062)				autonomic_ganglia(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(3)|lung(10)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;7.19e-24)|all cancers(36;3.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.149)		TGTCCTTATCGTATTTCTCCA	0.418													A|||	1	0.000199681	0	0	5008	,	,		21695	0.001		0	False		,,,				2504	0					ENST00000265239.6																			0				autonomic_ganglia(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(3)|lung(10)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(1000-1002)taC>taT		IQ motif containing G		A	,	0,4406		0,0,2203	287	267	274		1002,1002	-0.4	0.4	3		274	1,8599	819.2+/-406.8	0,1,4299	no	coding-synonymous,coding-synonymous	IQCG	NM_001134435.1,NM_032263.3	,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,	334/444,334/444	197619592	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	84223							g.chr3:197619592G>A	AL136889	CCDS3331.1	3q29	2014-07-18			ENSG00000114473	ENSG00000114473			25251	protein-coding gene	gene with protein product	"dynein regulatory complex subunit 9"	612477				11230166, 23427265, 24362311	Standard	NM_032263		Approved	DKFZp434B227, DRC9, CFAP122	uc003fyo.3	Q9H095	OTTHUMG00000155408	ENST00000265239.6:c.1002C>T	3.37:g.197619592G>A						IQCG_ENST00000455191.1_Silent_p.Y334Y	p.Y334Y	NM_032263.3	NP_115639.1	Q9H095	IQCG_HUMAN	Epithelial(36;7.19e-24)|all cancers(36;3.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.149)	10	1426	-	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)		334					Q9BST2|Q9HAG8	Silent	SNP	ENST00000265239.6	37	c.1002C>T	CCDS3331.1																																																																																				0.418	IQCG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339730.1	NM_032263		52	81	0	0	0	1	0	52	81					A	197619592	G	A	197619592	2	1	435	1	0	0	0	0	0	0	0	1	7810	1140	40	1		1	IQCG	3	197619592	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	698216	197619592	402838	2184	23109											
RPL35A	6165	broad.mit.edu	37	chr3	197678115	197678115	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctcttcttaaaattgaaggtGtttacgcccgagatgaaaca	13	12	8	8	2	2	3	0	2	2	1	2	4	2	3	1	1	2	1	1	1	5	5	rs116840808		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:197678115G>A	ENST00000464167.1	+	3	364	c.97G>A	c.(97-99)Gtt>Att	p.V33I	RPL35A_ENST00000329092.8_3'UTR|IQCG_ENST00000453254.1_5'Flank|IQCG_ENST00000265239.6_Intron|IQCG_ENST00000480302.1_Intron|RPL35A_ENST00000448864.1_Missense_Mutation_p.V33I|IQCG_ENST00000455191.1_5'Flank	NM_000996.2	NP_000987.2	P18077	RL35A_HUMAN	ribosomal protein L35a	33			V -> I (in DBA5; may result in aberrant splicing). {ECO:0000269|PubMed:18535205}.		cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|ribosomal large subunit biogenesis (GO:0042273)|RNA metabolic process (GO:0016070)|rRNA processing (GO:0006364)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)|tRNA binding (GO:0000049)			lung(1)|prostate(1)|urinary_tract(1)	3	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)	Lung NSC(153;0.132)	Epithelial(36;1.04e-23)|all cancers(36;3.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.182)		AATTGAAGGTGTTTACGCCCG	0.428																																						ENST00000464167.1																			0				lung(1)|prostate(1)|urinary_tract(1)	3						c.(97-99)Gtt>Att		ribosomal protein L35a							71	72	71					3																	197678115		2203	4300	6503	SO:0001583	missense	6165				endocrine pancreas development|ribosomal large subunit biogenesis|rRNA processing|translational elongation|translational termination|viral transcription	cytosol|ribosome	protein binding|structural constituent of ribosome|tRNA binding	g.chr3:197678115G>A	X52966	CCDS33930.1	3q29	2011-04-06			ENSG00000182899	ENSG00000182899		"L ribosomal proteins"	10345	protein-coding gene	gene with protein product		180468				1577483, 8786106	Standard	NM_000996		Approved	L35A	uc003fyr.3	P18077	OTTHUMG00000155386	ENST00000464167.1:c.97G>A	3.37:g.197678115G>A	ENSP00000419117:p.Val33Ile					RPL35A_ENST00000448864.1_Missense_Mutation_p.V33I|RPL35A_ENST00000329092.8_3'UTR|IQCG_ENST00000480302.1_Intron|IQCG_ENST00000265239.6_Intron	p.V33I	NM_000996.2	NP_000987.2	P18077	RL35A_HUMAN	Epithelial(36;1.04e-23)|all cancers(36;3.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.182)	3	364	+	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)	Lung NSC(153;0.132)	33		V -> I (in DBA5; may result in aberrant splicing).			Q08ES9|Q9BVN7	Missense_Mutation	SNP	ENST00000464167.1	37	c.97G>A	CCDS33930.1	.	.	.	.	.	.	.	.	.	.	G	28.2	4.900538	0.92035	.	.	ENSG00000182899	ENST00000464167;ENST00000448864;ENST00000442341	.	.	.	5.27	5.27	0.74061	Translation elongation/initiation factor/Ribosomal, beta-barrel (1);	0.123452	0.53938	D	0.000049	D	0.89420	0.6710	M	0.93283	3.4	0.58432	A	0.999996	B	0.27656	0.184	P	0.49361	0.608	D	0.89711	0.3912	8	0.87932	D	0	-45.7316	18.9742	0.92728	0.0:0.0:1.0:0.0	.	33	P18077	RL35A_HUMAN	I	33	.	ENSP00000398058:V33I	V	+	1	0	RPL35A	199162512	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.002000	0.63952	2.489000	0.83994	0.650000	0.86243	GTT		0.428	RPL35A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339788.1	NM_000996		23	40	0	0	0	1	0	23	40					A	197678115	G	A	197678115	3	1	435	1	0	0	0	0	1	0	0	0	13585	1377	48	3	103	3	RPL35A	3	197678115	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	58523	197678115	344315	2185	23110											
LMLN	89782	broad.mit.edu	37	chr3	197707373	197707373	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcaggaagcaaacatggaCaggtaatctttcctccggga	13	7	11	10	1	1	0	0	0	1	0	3	3	3	3	2	4	3	3	2	4	3	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:197707373C>T	ENST00000330198.4	+	6	748	c.726C>T	c.(724-726)gaC>gaT	p.D242D	LMLN_ENST00000420910.2_Silent_p.D242D|LMLN_ENST00000332636.5_Silent_p.D190D|LMLN_ENST00000482695.1_Silent_p.D190D	NM_033029.3	NP_149018.2	Q96KR4	LMLN_HUMAN	leishmanolysin-like (metallopeptidase M8 family)	242					cell adhesion (GO:0007155)|mitotic nuclear division (GO:0007067)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|lipid particle (GO:0005811)|membrane (GO:0016020)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			endometrium(3)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)	Lung NSC(153;0.132)	Epithelial(36;9.84e-24)|all cancers(36;3.18e-22)|OV - Ovarian serous cystadenocarcinoma(49;5.35e-19)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.111)		CAAACATGGACAGGTAATCTT	0.418																																						ENST00000330198.4																			0				endometrium(3)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						c.(724-726)gaC>gaT		leishmanolysin-like (metallopeptidase M8 family)							116	111	113					3																	197707373		2203	4300	6503	SO:0001819	synonymous_variant	89782				cell adhesion|cell division|mitosis|proteolysis	cytoplasm|membrane	metalloendopeptidase activity|zinc ion binding	g.chr3:197707373C>T	AJ312398	CCDS3332.1, CCDS46988.1	3q29	2008-02-04			ENSG00000185621	ENSG00000185621	3.4.24.36		15991	protein-coding gene	gene with protein product		609380					Standard	NM_033029		Approved	Gp63, Msp	uc010iar.3	Q96KR4	OTTHUMG00000155375	ENST00000330198.4:c.726C>T	3.37:g.197707373C>T						LMLN_ENST00000482695.1_Silent_p.D190D|LMLN_ENST00000332636.5_Silent_p.D190D|LMLN_ENST00000420910.2_Silent_p.D242D	p.D242D	NM_033029.3	NP_149018.2	Q96KR4	LMLN_HUMAN	Epithelial(36;9.84e-24)|all cancers(36;3.18e-22)|OV - Ovarian serous cystadenocarcinoma(49;5.35e-19)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.111)	6	748	+	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)	Lung NSC(153;0.132)	242					B3LDG9|B3LDH0|C9J796|F8WB28|Q96KR5	Silent	SNP	ENST00000330198.4	37	c.726C>T	CCDS3332.1																																																																																				0.418	LMLN-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000339701.1	NM_033029		26	37	0	0	0	1	0	26	37					T	197707373	C	T	197707373	2	4	435	1	0	0	0	0	0	0	0	1	8847	477	17	3		3	LMLN	3	197707373	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	29258	197707373	315057	2186	23111											
LMLN	89782	broad.mit.edu	37	chr3	197762892	197762892	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	acagatcctccagccactaaCctgacccgagctctgccact	10	7	6	18	1	1	2	0	1	1	1	3	3	3	2	6	0	4	1	6	0	1	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:197762892C>T	ENST00000330198.4	+	15	1867	c.1845C>T	c.(1843-1845)aaC>aaT	p.N615N	LMLN-AS1_ENST00000423460.1_RNA|LMLN_ENST00000420910.2_Silent_p.N652N|LMLN_ENST00000332636.5_Silent_p.N563N|LMLN_ENST00000482695.1_Silent_p.N600N	NM_033029.3	NP_149018.2	Q96KR4	LMLN_HUMAN	leishmanolysin-like (metallopeptidase M8 family)	615					cell adhesion (GO:0007155)|mitotic nuclear division (GO:0007067)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|lipid particle (GO:0005811)|membrane (GO:0016020)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			endometrium(3)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)	Lung NSC(153;0.132)	Epithelial(36;9.84e-24)|all cancers(36;3.18e-22)|OV - Ovarian serous cystadenocarcinoma(49;5.35e-19)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.111)		CAGCCACTAACCTGACCCGAG	0.488																																						ENST00000330198.4																			0				endometrium(3)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						c.(1843-1845)aaC>aaT		leishmanolysin-like (metallopeptidase M8 family)							75	74	74					3																	197762892		2203	4300	6503	SO:0001819	synonymous_variant	89782				cell adhesion|cell division|mitosis|proteolysis	cytoplasm|membrane	metalloendopeptidase activity|zinc ion binding	g.chr3:197762892C>T	AJ312398	CCDS3332.1, CCDS46988.1	3q29	2008-02-04			ENSG00000185621	ENSG00000185621	3.4.24.36		15991	protein-coding gene	gene with protein product		609380					Standard	NM_033029		Approved	Gp63, Msp	uc010iar.3	Q96KR4	OTTHUMG00000155375	ENST00000330198.4:c.1845C>T	3.37:g.197762892C>T						LMLN_ENST00000482695.1_Silent_p.N600N|LMLN_ENST00000332636.5_Silent_p.N563N|LMLN_ENST00000420910.2_Silent_p.N652N	p.N615N	NM_033029.3	NP_149018.2	Q96KR4	LMLN_HUMAN	Epithelial(36;9.84e-24)|all cancers(36;3.18e-22)|OV - Ovarian serous cystadenocarcinoma(49;5.35e-19)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.111)	15	1867	+	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)	Lung NSC(153;0.132)	615					B3LDG9|B3LDH0|C9J796|F8WB28|Q96KR5	Silent	SNP	ENST00000330198.4	37	c.1845C>T	CCDS3332.1																																																																																				0.488	LMLN-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000339701.1	NM_033029		20	40	0	0	0	1	0	20	40					T	197762892	C	T	197762892	2	4	435	1	0	0	0	0	0	0	0	1	8847	506	18	3		3	LMLN	3	197762892	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	55519	197762892	259538	2187	23112											
ZNF141	7700	broad.mit.edu	37	chr4	367133	367133	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caaactttgccaaacataagCgaattcatactggagagaaa	18	8	7	8	1	1	1	1	0	0	1	1	4	1	2	1	1	5	0	1	1	6	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:367133C>T	ENST00000240499.7	+	4	1056	c.907C>T	c.(907-909)Cga>Tga	p.R303*	ZNF141_ENST00000512994.1_Intron|ZNF141_ENST00000505939.1_Intron	NM_003441.2	NP_003432.1	Q15928	ZN141_HUMAN	zinc finger protein 141	303					anatomical structure morphogenesis (GO:0009653)|limb morphogenesis (GO:0035108)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|kidney(3)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(1)	18						CAAACATAAGCGAATTCATAC	0.378																																						ENST00000240499.7																			0				breast(1)|kidney(3)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(1)	18						c.(907-909)Cga>Tga		zinc finger protein 141							75	85	82					4																	367133		2202	4299	6501	SO:0001587	stop_gained	7700				anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding	g.chr4:367133C>T	L15309	CCDS33931.1	4p16.3	2013-01-08	2006-06-13			ENSG00000131127		"Zinc fingers, C2H2-type", "-"	12926	protein-coding gene	gene with protein product		194648	"zinc finger protein 141 (clone pHZ-44)"	D4S90		8268908	Standard	NM_003441		Approved	pHZ-44	uc003gaa.2	Q15928		ENST00000240499.7:c.907C>T	4.37:g.367133C>T	ENSP00000240499:p.Arg303*					ZNF141_ENST00000512994.1_Intron|ZNF141_ENST00000505939.1_Intron	p.R303*	NM_003441.2	NP_003432.1	Q15928	ZN141_HUMAN			4	1056	+			303					Q6DK07	Nonsense_Mutation	SNP	ENST00000240499.7	37	c.907C>T	CCDS33931.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.219531	0.79464	.	.	ENSG00000131127	ENST00000240499	.	.	.	1.24	-2.48	0.06423	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.1529	0.20322	0.5097:0.4902:0.0:0.0	.	.	.	.	X	303	.	.	R	+	1	2	ZNF141	357133	0.000000	0.05858	0.186000	0.23195	0.721000	0.41392	-6.005000	0.00086	-0.384000	0.07845	-0.821000	0.03111	CGA		0.378	ZNF141-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357710.1	NM_003441		35	68	0	0	0	1	0	35	68					T	367133	C	T	367133	4	4	435	1	0	0	0	0	0	1	0	0	17727	760	27	1	921	1	ZNF141	4	367133	Nonsense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08		367133	190787143	2188	23113											
PIGG	54872	broad.mit.edu	37	chr4	524247	524247	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtattattgaagctcgttttGtttatgtctttgtccttggc	5	21	9	6	1	1	1	0	1	1	0	3	1	2	1	1	1	1	4	1	1	4	9			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:524247G>A	ENST00000453061.2	+	11	2390	c.2284G>A	c.(2284-2286)Gtt>Att	p.V762I	PIGG_ENST00000310340.5_Missense_Mutation_p.V754I|PIGG_ENST00000504346.1_Missense_Mutation_p.V673I|PIGG_ENST00000383028.4_Missense_Mutation_p.V629I|PIGG_ENST00000296306.7_3'UTR	NM_001127178.1	NP_001120650.1	Q5H8A4	PIGG_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class G	762					C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|GPI anchor biosynthetic process (GO:0006506)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	CP2 mannose-ethanolamine phosphotransferase activity (GO:0051267)|phosphotransferase activity, for other substituted phosphate groups (GO:0016780)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	39						AGCTCGTTTTGTTTATGTCTT	0.363																																						ENST00000453061.2																			0				breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	39						c.(2284-2286)Gtt>Att		phosphatidylinositol glycan anchor biosynthesis, class G							119	120	120					4																	524247		2203	4300	6503	SO:0001583	missense	54872				C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	CP2 mannose-ethanolamine phosphotransferase activity	g.chr4:524247G>A		CCDS3336.1, CCDS46992.1, CCDS75080.1, CCDS75081.1, CCDS75082.1, CCDS75083.1	4p16.3	2013-02-26	2006-06-28		ENSG00000174227	ENSG00000174227		"Phosphatidylinositol glycan anchor biosynthesis"	25985	protein-coding gene	gene with protein product			"phosphatidylinositol glycan, class G"			15632136	Standard	XM_005272287		Approved	FLJ20265, GPI7, LAS21	uc003gak.4	Q5H8A4	OTTHUMG00000112457	ENST00000453061.2:c.2284G>A	4.37:g.524247G>A	ENSP00000415203:p.Val762Ile					PIGG_ENST00000504346.1_Missense_Mutation_p.V673I|PIGG_ENST00000296306.7_3'UTR|PIGG_ENST00000383028.4_Missense_Mutation_p.V629I|PIGG_ENST00000310340.5_Missense_Mutation_p.V754I	p.V762I	NM_001127178.1	NP_001120650.1	Q5H8A4	PIGG_HUMAN			11	2390	+			762					B4DKC7|Q2TAK5|Q6UX31|Q7L5Y4|Q8N866|Q8NCC9|Q96SY9|Q9BVT7|Q9NXG5	Missense_Mutation	SNP	ENST00000453061.2	37	c.2284G>A	CCDS46992.1	.	.	.	.	.	.	.	.	.	.	G	24.4	4.530073	0.85706	.	.	ENSG00000174227	ENST00000310340;ENST00000453061;ENST00000504346;ENST00000383028	T;T;T;T	0.10005	3.25;3.25;2.93;2.92	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	T	0.34687	0.0906	M	0.77820	2.39	0.80722	D	1	D;D;D	0.76494	0.999;0.997;0.998	D;D;D	0.83275	0.996;0.914;0.961	T	0.01090	-1.1455	10	0.29301	T	0.29	-25.684	17.5138	0.87767	0.0:0.0:1.0:0.0	.	629;762;754	Q5H8A4-3;Q5H8A4;Q5H8A4-2	.;PIGG_HUMAN;.	I	754;762;673;629	ENSP00000311750:V754I;ENSP00000415203:V762I;ENSP00000424800:V673I;ENSP00000372494:V629I	ENSP00000311750:V754I	V	+	1	0	PIGG	514247	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	8.834000	0.92094	2.804000	0.96469	0.655000	0.94253	GTT		0.363	PIGG-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000357494.1	NM_017733		53	76	0	0	0	1	0	53	76					A	524247	G	A	524247	3	1	435	1	0	0	0	0	1	0	0	0	11888	1377	48	3	2326	3	PIGG	4	524247	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	157114	524247	190630029	2189	23114											
PIGG	54872	broad.mit.edu	37	chr4	527766	527766	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acttcctgagctcagaaacaCgcaggtgaggcgcctctctg	9	8	11	13	2	2	3	1	2	1	1	4	3	3	3	2	2	2	2	2	2	1	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:527766C>T	ENST00000453061.2	+	12	2837	c.2731C>T	c.(2731-2733)Cgc>Tgc	p.R911C	PIGG_ENST00000310340.5_Missense_Mutation_p.R903C|PIGG_ENST00000504346.1_Missense_Mutation_p.R822C|PIGG_ENST00000383028.4_Missense_Mutation_p.R778C|PIGG_ENST00000296306.7_3'UTR	NM_001127178.1	NP_001120650.1	Q5H8A4	PIGG_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class G	911					C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|GPI anchor biosynthetic process (GO:0006506)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	CP2 mannose-ethanolamine phosphotransferase activity (GO:0051267)|phosphotransferase activity, for other substituted phosphate groups (GO:0016780)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	39						CTCAGAAACACGCAGGTGAGG	0.597																																						ENST00000453061.2																			0				breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	39						c.(2731-2733)Cgc>Tgc		phosphatidylinositol glycan anchor biosynthesis, class G							59	54	56					4																	527766		2203	4300	6503	SO:0001583	missense	54872				C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	CP2 mannose-ethanolamine phosphotransferase activity	g.chr4:527766C>T		CCDS3336.1, CCDS46992.1, CCDS75080.1, CCDS75081.1, CCDS75082.1, CCDS75083.1	4p16.3	2013-02-26	2006-06-28		ENSG00000174227	ENSG00000174227		"Phosphatidylinositol glycan anchor biosynthesis"	25985	protein-coding gene	gene with protein product			"phosphatidylinositol glycan, class G"			15632136	Standard	XM_005272287		Approved	FLJ20265, GPI7, LAS21	uc003gak.4	Q5H8A4	OTTHUMG00000112457	ENST00000453061.2:c.2731C>T	4.37:g.527766C>T	ENSP00000415203:p.Arg911Cys					PIGG_ENST00000310340.5_Missense_Mutation_p.R903C|PIGG_ENST00000504346.1_Missense_Mutation_p.R822C|PIGG_ENST00000383028.4_Missense_Mutation_p.R778C|PIGG_ENST00000296306.7_3'UTR	p.R911C	NM_001127178.1	NP_001120650.1	Q5H8A4	PIGG_HUMAN			12	2837	+			911					B4DKC7|Q2TAK5|Q6UX31|Q7L5Y4|Q8N866|Q8NCC9|Q96SY9|Q9BVT7|Q9NXG5	Missense_Mutation	SNP	ENST00000453061.2	37	c.2731C>T	CCDS46992.1	.	.	.	.	.	.	.	.	.	.	C	12.22	1.873446	0.33069	.	.	ENSG00000174227	ENST00000310340;ENST00000453061;ENST00000504346;ENST00000383028;ENST00000453065	T;T;T;T	0.33865	1.39;1.39;1.39;1.39	5.65	3.16	0.36331	.	0.976929	0.08500	N	0.936594	T	0.26195	0.0639	N	0.22421	0.69	0.18873	N	0.999983	P;P;P	0.39282	0.666;0.536;0.666	B;B;B	0.39419	0.299;0.157;0.299	T	0.15752	-1.0426	10	0.41790	T	0.15	-7.9671	6.7489	0.23475	0.5431:0.3165:0.0:0.1404	.	778;911;903	Q5H8A4-3;Q5H8A4;Q5H8A4-2	.;PIGG_HUMAN;.	C	903;911;822;778;67	ENSP00000311750:R903C;ENSP00000415203:R911C;ENSP00000424800:R822C;ENSP00000372494:R778C	ENSP00000311750:R903C	R	+	1	0	PIGG	517766	0.003000	0.15002	0.251000	0.24312	0.639000	0.38242	1.174000	0.31932	0.474000	0.27392	-0.457000	0.05445	CGC		0.597	PIGG-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000357494.1	NM_017733		12	20	0	0	0	1	0	12	20					T	527766	C	T	527766	3	4	435	1	0	0	0	0	1	0	0	0	11888	536	19	1	2777	1	PIGG	4	527766	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	3519	527766	190626510	2190	23115											
PDE6B	5158	broad.mit.edu	37	chr4	628555	628555	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atcatgaatggcaaagacgtCgtggcggtgatcatggcagt	11	9	14	7	3	2	3	2	2	0	1	3	3	2	3	0	4	0	2	0	4	2	0	rs371920663		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:628555C>T	ENST00000496514.1	+	2	579	c.558C>T	c.(556-558)gtC>gtT	p.V186V	PDE6B_ENST00000255622.6_Silent_p.V186V			P35913	PDE6B_HUMAN	phosphodiesterase 6B, cGMP-specific, rod, beta	186	GAF 1.				cytosolic calcium ion homeostasis (GO:0051480)|GMP metabolic process (GO:0046037)|phototransduction, visible light (GO:0007603)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|retina development in camera-type eye (GO:0060041)|rhodopsin mediated signaling pathway (GO:0016056)|visual perception (GO:0007601)	photoreceptor disc membrane (GO:0097381)|plasma membrane (GO:0005886)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|metal ion binding (GO:0046872)			NS(1)|breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|urinary_tract(1)	30					Caffeine(DB00201)	GCAAAGACGTCGTGGCGGTGA	0.562													C|||	1	0.000199681	8e-04	0	5008	,	,		19974	0		0	False		,,,				2504	0				GBM(71;463 1194 9848 25922 46834)	ENST00000255622.6																			0				NS(1)|breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|urinary_tract(1)	30						c.(556-558)gtC>gtT		phosphodiesterase 6B, cGMP-specific, rod, beta		C	,	1,4405	2.1+/-5.4	0,1,2202	151	119	130		558,558	-9	0	4		130	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	PDE6B	NM_000283.3,NM_001145291.1	,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,	186/855,186/854	628555	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	5158				cytosolic calcium ion homeostasis|GMP metabolic process|phototransduction, visible light|platelet activation|visual perception	cytosol|membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding	g.chr4:628555C>T	BC000249	CCDS33932.1, CCDS46993.1, CCDS54703.1	4p16.3	2014-01-28	2008-07-31		ENSG00000133256	ENSG00000133256	3.1.4.17	"Phosphodiesterases"	8786	protein-coding gene	gene with protein product	"congenital stationary night blindness 3, autosomal dominant"	180072		PDEB		1313787	Standard	NM_001145292		Approved	CSNB3, rd1, RP40, CSNBAD2	uc003gap.3	P35913	OTTHUMG00000159909	ENST00000496514.1:c.558C>T	4.37:g.628555C>T						PDE6B_ENST00000496514.1_Silent_p.V186V	p.V186V	NM_000283.3|NM_001145291.1	NP_000274.2|NP_001138763.1	P35913	PDE6B_HUMAN			2	601	+			186			GAF 1.		B7Z9T9|E7ETT3|Q53XN5|Q9BWH5|Q9UD49	Silent	SNP	ENST00000496514.1	37	c.558C>T	CCDS33932.1																																																																																				0.562	PDE6B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000358109.1	NM_000283		18	29	0	0	0	1	0	18	29					T	628555	C	T	628555	2	4	435	1	0	0	0	0	0	0	0	1	11646	871	31	2		2	PDE6B	4	628555	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	100789	628555	190525721	2191	23116											
PDE6B	5158	broad.mit.edu	37	chr4	650773	650773	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acattttacaacaggaaagaCgggaagccctttgacgaaca	16	7	9	9	2	0	2	0	1	0	1	0	5	0	4	1	2	4	0	1	2	5	3	rs148190219		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:650773C>T	ENST00000496514.1	+	9	1239	c.1218C>T	c.(1216-1218)gaC>gaT	p.D406D	RP11-1191J2.2_ENST00000468356.1_RNA|PDE6B_ENST00000255622.6_Silent_p.D406D|PDE6B_ENST00000429163.2_Silent_p.D127D|RP11-1191J2.2_ENST00000489312.1_RNA			P35913	PDE6B_HUMAN	phosphodiesterase 6B, cGMP-specific, rod, beta	406	GAF 2.				cytosolic calcium ion homeostasis (GO:0051480)|GMP metabolic process (GO:0046037)|phototransduction, visible light (GO:0007603)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|retina development in camera-type eye (GO:0060041)|rhodopsin mediated signaling pathway (GO:0016056)|visual perception (GO:0007601)	photoreceptor disc membrane (GO:0097381)|plasma membrane (GO:0005886)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|metal ion binding (GO:0046872)			NS(1)|breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|urinary_tract(1)	30					Caffeine(DB00201)	ACAGGAAAGACGGGAAGCCCT	0.587																																					GBM(71;463 1194 9848 25922 46834)	ENST00000255622.6																			0				NS(1)|breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|urinary_tract(1)	30						c.(1216-1218)gaC>gaT		phosphodiesterase 6B, cGMP-specific, rod, beta			,,	1,4405	2.1+/-5.4	0,1,2202	77	68	71		1218,1218,381	-4.2	0.9	4	dbSNP_134	71	3,8597	3.0+/-9.4	0,3,4297	no	coding-synonymous,coding-synonymous,coding-synonymous	PDE6B	NM_000283.3,NM_001145291.1,NM_001145292.1	,,	0,4,6499	TT,TC,CC		0.0349,0.0227,0.0308	,,	406/855,406/854,127/576	650773	4,13002	2203	4300	6503	SO:0001819	synonymous_variant	5158				cytosolic calcium ion homeostasis|GMP metabolic process|phototransduction, visible light|platelet activation|visual perception	cytosol|membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding	g.chr4:650773C>T	BC000249	CCDS33932.1, CCDS46993.1, CCDS54703.1	4p16.3	2014-01-28	2008-07-31		ENSG00000133256	ENSG00000133256	3.1.4.17	"Phosphodiesterases"	8786	protein-coding gene	gene with protein product	"congenital stationary night blindness 3, autosomal dominant"	180072		PDEB		1313787	Standard	NM_001145292		Approved	CSNB3, rd1, RP40, CSNBAD2	uc003gap.3	P35913	OTTHUMG00000159909	ENST00000496514.1:c.1218C>T	4.37:g.650773C>T						PDE6B_ENST00000496514.1_Silent_p.D406D|PDE6B_ENST00000429163.2_Silent_p.D127D	p.D406D	NM_000283.3|NM_001145291.1	NP_000274.2|NP_001138763.1	P35913	PDE6B_HUMAN			9	1261	+			406			GAF 2.		B7Z9T9|E7ETT3|Q53XN5|Q9BWH5|Q9UD49	Silent	SNP	ENST00000496514.1	37	c.1218C>T	CCDS33932.1																																																																																				0.587	PDE6B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000358109.1	NM_000283		9	23	0	0	0	1	0	9	23					T	650773	C	T	650773	2	4	435	1	0	0	0	0	0	0	0	1	11646	535	19	1		1	PDE6B	4	650773	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	22218	650773	190503503	2192	23117											
PDE6B	5158	broad.mit.edu	37	chr4	656356	656356	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cttcgccatggtgacagccgGcctgtgccatgacatcgacc	7	8	11	15	3	0	2	0	2	0	0	2	3	0	2	5	2	2	0	5	2	0	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:656356G>A	ENST00000496514.1	+	14	1802	c.1781G>A	c.(1780-1782)gGc>gAc	p.G594D	PDE6B_ENST00000255622.6_Missense_Mutation_p.G594D|RP11-1191J2.5_ENST00000609172.1_RNA|PDE6B_ENST00000429163.2_Missense_Mutation_p.G315D			P35913	PDE6B_HUMAN	phosphodiesterase 6B, cGMP-specific, rod, beta	594					cytosolic calcium ion homeostasis (GO:0051480)|GMP metabolic process (GO:0046037)|phototransduction, visible light (GO:0007603)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|retina development in camera-type eye (GO:0060041)|rhodopsin mediated signaling pathway (GO:0016056)|visual perception (GO:0007601)	photoreceptor disc membrane (GO:0097381)|plasma membrane (GO:0005886)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|metal ion binding (GO:0046872)			NS(1)|breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|urinary_tract(1)	30					Caffeine(DB00201)	GTGACAGCCGGCCTGTGCCAT	0.592																																					GBM(71;463 1194 9848 25922 46834)	ENST00000255622.6																			0				NS(1)|breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|urinary_tract(1)	30						c.(1780-1782)gGc>gAc		phosphodiesterase 6B, cGMP-specific, rod, beta							80	72	75					4																	656356		2203	4300	6503	SO:0001583	missense	5158				cytosolic calcium ion homeostasis|GMP metabolic process|phototransduction, visible light|platelet activation|visual perception	cytosol|membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding	g.chr4:656356G>A	BC000249	CCDS33932.1, CCDS46993.1, CCDS54703.1	4p16.3	2014-01-28	2008-07-31		ENSG00000133256	ENSG00000133256	3.1.4.17	"Phosphodiesterases"	8786	protein-coding gene	gene with protein product	"congenital stationary night blindness 3, autosomal dominant"	180072		PDEB		1313787	Standard	NM_001145292		Approved	CSNB3, rd1, RP40, CSNBAD2	uc003gap.3	P35913	OTTHUMG00000159909	ENST00000496514.1:c.1781G>A	4.37:g.656356G>A	ENSP00000420295:p.Gly594Asp					PDE6B_ENST00000496514.1_Missense_Mutation_p.G594D|PDE6B_ENST00000429163.2_Missense_Mutation_p.G315D	p.G594D	NM_000283.3|NM_001145291.1	NP_000274.2|NP_001138763.1	P35913	PDE6B_HUMAN			14	1824	+			594					B7Z9T9|E7ETT3|Q53XN5|Q9BWH5|Q9UD49	Missense_Mutation	SNP	ENST00000496514.1	37	c.1781G>A	CCDS33932.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.243545	0.79912	.	.	ENSG00000133256	ENST00000255622;ENST00000496514;ENST00000429163	T;T;T	0.78126	-1.15;-1.15;-1.15	4.55	4.55	0.56014	Metal-dependent phosphohydrolase, HD domain (1);5&apos (2);-cyclic nucleotide phosphodiesterase, catalytic domain (2);3&apos (2);	0.111097	0.64402	D	0.000011	D	0.83543	0.5277	L	0.55990	1.75	0.53688	D	0.999972	P;P	0.52463	0.922;0.953	P;P	0.60609	0.826;0.877	D	0.85557	0.1225	10	0.72032	D	0.01	.	14.7893	0.69827	0.0:0.0:1.0:0.0	.	594;594	P35913;P35913-2	PDE6B_HUMAN;.	D	594;594;315	ENSP00000255622:G594D;ENSP00000420295:G594D;ENSP00000406334:G315D	ENSP00000255622:G594D	G	+	2	0	PDE6B	646356	1.000000	0.71417	0.925000	0.36789	0.976000	0.68499	5.724000	0.68500	2.059000	0.61396	0.639000	0.83563	GGC		0.592	PDE6B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000358109.1	NM_000283		6	24	0	0	0	1	0	6	24					A	656356	G	A	656356	3	1	435	1	0	0	0	0	1	0	0	0	11646	1203	42	3	1835	3	PDE6B	4	656356	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	5583	656356	190497920	2193	23118											
GAK	2580	broad.mit.edu	37	chr4	844870	844870	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctcagagacttttggcttttGagctagaaaagaacagaaac	15	10	9	7	0	1	5	1	1	0	4	1	6	1	5	0	1	3	2	0	1	5	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:844870G>A	ENST00000314167.4	-	26	3621	c.3511C>T	c.(3511-3513)Caa>Taa	p.Q1171*	GAK_ENST00000509566.1_5'UTR|GAK_ENST00000511163.1_Nonsense_Mutation_p.Q1092*	NM_005255.2	NP_005246.2	O14976	GAK_HUMAN	cyclin G associated kinase	1171					cell cycle (GO:0007049)|cell development (GO:0048468)|clathrin coat disassembly (GO:0072318)|clathrin-mediated endocytosis (GO:0072583)|endoplasmic reticulum organization (GO:0007029)|epidermal cell differentiation (GO:0009913)|establishment of skin barrier (GO:0061436)|forebrain morphogenesis (GO:0048853)|Golgi organization (GO:0007030)|intrahepatic bile duct development (GO:0035622)|positive regulation of neural precursor cell proliferation (GO:2000179)	cell junction (GO:0030054)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(16)|skin(7)|urinary_tract(2)	39				Colorectal(103;0.219)		TTTGGCTTTTGAGCTAGAAAA	0.468																																						ENST00000314167.4																			0				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(16)|skin(7)|urinary_tract(2)	39						c.(3511-3513)Caa>Taa		cyclin G associated kinase							104	101	102					4																	844870		2203	4300	6503	SO:0001587	stop_gained	2580				cell cycle	focal adhesion|Golgi apparatus|perinuclear region of cytoplasm	ATP binding|heat shock protein binding|protein serine/threonine kinase activity	g.chr4:844870G>A	D88435	CCDS3340.1	4p16	2011-09-07			ENSG00000178950	ENSG00000178950		"Heat shock proteins / DNAJ (HSP40)"	4113	protein-coding gene	gene with protein product	"auxilin-2"	602052				9299234	Standard	NM_005255		Approved	DNAJC26	uc003gbm.4	O14976	OTTHUMG00000088301	ENST00000314167.4:c.3511C>T	4.37:g.844870G>A	ENSP00000314499:p.Gln1171*					GAK_ENST00000511163.1_Nonsense_Mutation_p.Q1092*|GAK_ENST00000509566.1_5'UTR	p.Q1171*	NM_005255.2	NP_005246.2	O14976	GAK_HUMAN		Colorectal(103;0.219)	26	3621	-			1171					Q5U4P5|Q9BVY6	Nonsense_Mutation	SNP	ENST00000314167.4	37	c.3511C>T	CCDS3340.1	.	.	.	.	.	.	.	.	.	.	G	37	6.011060	0.97200	.	.	ENSG00000178950	ENST00000398567;ENST00000314167;ENST00000511163	.	.	.	5.41	5.41	0.78517	.	0.369220	0.29198	N	0.012844	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06099	T	0.92	-5.3902	16.6821	0.85295	0.0:0.0:1.0:0.0	.	.	.	.	X	447;1171;1092	.	ENSP00000314499:Q1171X	Q	-	1	0	GAK	834870	0.940000	0.31905	0.665000	0.29768	0.915000	0.54546	2.748000	0.47483	2.527000	0.85204	0.655000	0.94253	CAA		0.468	GAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239188.1	NM_005255		30	46	0	0	0	1	0	30	46					A	844870	G	A	844870	4	1	435	1	0	0	0	0	0	1	0	0	6195	1299	45	3	436	3	GAK	4	844870	Nonsense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	188514	844870	190309406	2194	23119											
GAK	2580	broad.mit.edu	37	chr4	853455	853455	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tccgggttctgagacttggtCcagctggcctgagagccaca	7	9	13	12	1	1	2	0	2	1	2	3	4	3	2	4	3	2	2	4	3	0	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:853455C>T	ENST00000314167.4	-	24	3332	c.3222G>A	c.(3220-3222)tgG>tgA	p.W1074*	GAK_ENST00000509566.1_5'UTR|GAK_ENST00000511163.1_Nonsense_Mutation_p.W995*	NM_005255.2	NP_005246.2	O14976	GAK_HUMAN	cyclin G associated kinase	1074					cell cycle (GO:0007049)|cell development (GO:0048468)|clathrin coat disassembly (GO:0072318)|clathrin-mediated endocytosis (GO:0072583)|endoplasmic reticulum organization (GO:0007029)|epidermal cell differentiation (GO:0009913)|establishment of skin barrier (GO:0061436)|forebrain morphogenesis (GO:0048853)|Golgi organization (GO:0007030)|intrahepatic bile duct development (GO:0035622)|positive regulation of neural precursor cell proliferation (GO:2000179)	cell junction (GO:0030054)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(16)|skin(7)|urinary_tract(2)	39				Colorectal(103;0.219)		GAGACTTGGTCCAGCTGGCCT	0.612																																						ENST00000314167.4																			0				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(16)|skin(7)|urinary_tract(2)	39						c.(3220-3222)tgG>tgA		cyclin G associated kinase							59	64	62					4																	853455		2203	4300	6503	SO:0001587	stop_gained	2580				cell cycle	focal adhesion|Golgi apparatus|perinuclear region of cytoplasm	ATP binding|heat shock protein binding|protein serine/threonine kinase activity	g.chr4:853455C>T	D88435	CCDS3340.1	4p16	2011-09-07			ENSG00000178950	ENSG00000178950		"Heat shock proteins / DNAJ (HSP40)"	4113	protein-coding gene	gene with protein product	"auxilin-2"	602052				9299234	Standard	NM_005255		Approved	DNAJC26	uc003gbm.4	O14976	OTTHUMG00000088301	ENST00000314167.4:c.3222G>A	4.37:g.853455C>T	ENSP00000314499:p.Trp1074*					GAK_ENST00000511163.1_Nonsense_Mutation_p.W995*|GAK_ENST00000509566.1_5'UTR	p.W1074*	NM_005255.2	NP_005246.2	O14976	GAK_HUMAN		Colorectal(103;0.219)	24	3332	-			1074					Q5U4P5|Q9BVY6	Nonsense_Mutation	SNP	ENST00000314167.4	37	c.3222G>A	CCDS3340.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	C|C|C	21.8|21.8|21.8	4.200898|4.200898|4.200898	0.79015|0.79015|0.79015	.|.|.	.|.|.	ENSG00000178950|ENSG00000178950|ENSG00000178950	ENST00000510799|ENST00000511980|ENST00000398567;ENST00000314167;ENST00000511163	.|.|.	.|.|.	.|.|.	4.68|4.68|4.68	-0.157|-0.157|-0.157	0.13387|0.13387|0.13387	.|.|.	.|.|0.836525	.|.|0.10676	.|.|N	.|.|0.646924	T|T|.	0.42086|0.42086|.	0.1187|0.1187|.	.|.|.	.|.|.	.|.|.	0.80722|0.80722|0.80722	A|A|A	1|1|1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	T|T|.	0.50189|0.50189|.	-0.8857|-0.8857|.	3|3|.	.|.|0.42905	.|.|T	.|.|0.14	-0.025|-0.025|-0.025	6.4134|6.4134|6.4134	0.21704|0.21704|0.21704	0.0:0.5144:0.2821:0.2035|0.0:0.5144:0.2821:0.2035|0.0:0.5144:0.2821:0.2035	.|.|.	.|.|.	.|.|.	.|.|.	N|E|X	194|186|350;1074;995	.|.|.	.|.|ENSP00000314499:W1074X	D|G|W	-|-|-	1|2|3	0|0|0	GAK|GAK|GAK	843455|843455|843455	0.001000|0.001000|0.001000	0.12720|0.12720|0.12720	0.754000|0.754000|0.754000	0.31244|0.31244|0.31244	0.800000|0.800000|0.800000	0.45204|0.45204|0.45204	0.126000|0.126000|0.126000	0.15769|0.15769|0.15769	0.008000|0.008000|0.008000	0.14787|0.14787|0.14787	0.511000|0.511000|0.511000	0.50034|0.50034|0.50034	GAC|GGA|TGG		0.612	GAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239188.1	NM_005255		18	33	0	0	0	1	0	18	33					T	853455	C	T	853455	4	4	435	1	0	0	0	0	0	1	0	0	6195	856	30	3	733	3	GAK	4	853455	Nonsense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	8585	853455	190300821	2195	23120											
FGFRL1	53834	broad.mit.edu	37	chr4	1018179	1018179	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcggggggaccacgtccttcCagtgcaaggtgcgcagcgac	7	6	15	13	4	0	0	0	0	0	0	3	2	2	1	3	4	3	2	3	4	1	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:1018179C>A	ENST00000398484.2	+	7	1379	c.799C>A	c.(799-801)Cag>Aag	p.Q267K	FGFRL1_ENST00000510644.1_Missense_Mutation_p.Q267K|FGFRL1_ENST00000264748.6_Missense_Mutation_p.Q267K|FGFRL1_ENST00000504138.1_Missense_Mutation_p.Q267K			Q8N441	FGRL1_HUMAN	fibroblast growth factor receptor-like 1	267	Ig-like C2-type 3.				diaphragm development (GO:0060539)|heart valve morphogenesis (GO:0003179)|negative regulation of cell proliferation (GO:0008285)|skeletal system development (GO:0001501)|ventricular septum morphogenesis (GO:0060412)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	fibroblast growth factor-activated receptor activity (GO:0005007)|heparin binding (GO:0008201)			endometrium(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	13			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			CACGTCCTTCCAGTGCAAGGT	0.677																																						ENST00000398484.2																			0				endometrium(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	13						c.(799-801)Cag>Aag		fibroblast growth factor receptor-like 1							61	58	59					4																	1018179		2201	4297	6498	SO:0001583	missense	53834				regulation of cell growth	integral to membrane|plasma membrane	fibroblast growth factor receptor activity|heparin binding	g.chr4:1018179C>A		CCDS3344.1	4p16	2013-01-11			ENSG00000127418	ENSG00000127418		"Immunoglobulin superfamily / I-set domain containing"	3693	protein-coding gene	gene with protein product		605830					Standard	NM_021923		Approved		uc003gcg.3	Q8N441	OTTHUMG00000118998	ENST00000398484.2:c.799C>A	4.37:g.1018179C>A	ENSP00000381498:p.Gln267Lys					FGFRL1_ENST00000510644.1_Missense_Mutation_p.Q267K|FGFRL1_ENST00000504138.1_Missense_Mutation_p.Q267K|FGFRL1_ENST00000264748.6_Missense_Mutation_p.Q267K	p.Q267K			Q8N441	FGRL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.0158)		7	1379	+			267			Ig-like C2-type 3.		B2RAU9|Q6PJN1|Q9BXN7|Q9H4D7	Missense_Mutation	SNP	ENST00000398484.2	37	c.799C>A	CCDS3344.1	.	.	.	.	.	.	.	.	.	.	c	27.7	4.859603	0.91433	.	.	ENSG00000127418	ENST00000398484;ENST00000542622;ENST00000510644;ENST00000504138;ENST00000264748	T;T;T;T	0.66280	-0.2;-0.2;-0.2;-0.2	5.27	5.27	0.74061	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.73814	0.3635	L	0.45581	1.43	0.80722	D	1	D	0.76494	0.999	D	0.91635	0.999	T	0.70699	-0.4800	10	0.32370	T	0.25	-32.7033	17.8682	0.88803	0.0:1.0:0.0:0.0	.	267	Q8N441	FGRL1_HUMAN	K	267;237;267;267;267	ENSP00000381498:Q267K;ENSP00000425025:Q267K;ENSP00000423091:Q267K;ENSP00000264748:Q267K	ENSP00000264748:Q267K	Q	+	1	0	FGFRL1	1008179	1.000000	0.71417	1.000000	0.80357	0.900000	0.52787	4.450000	0.60041	2.466000	0.83321	0.574000	0.79327	CAG		0.677	FGFRL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239195.2	NM_021923		19	35	1	0	8.10497e-08	1	8.52441e-08	19	35					A	1018179	C	A	1018179	3	1	435	1	0	0	0	0	1	0	0	0	5869	595	21	5	817	5	FGFRL1	4	1018179	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	164724	1018179	190136097	2196	23121											
FGFRL1	53834	broad.mit.edu	37	chr4	1018244	1018244	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aagcgcgtggagtacggcgcCgagggccgccacaactccac	9	3	14	15	6	0	0	0	0	0	0	1	2	1	1	4	3	3	1	4	3	3	1	rs138109269		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:1018244C>T	ENST00000398484.2	+	7	1444	c.864C>T	c.(862-864)gcC>gcT	p.A288A	FGFRL1_ENST00000510644.1_Silent_p.A288A|FGFRL1_ENST00000264748.6_Silent_p.A288A|FGFRL1_ENST00000504138.1_Silent_p.A288A			Q8N441	FGRL1_HUMAN	fibroblast growth factor receptor-like 1	288	Ig-like C2-type 3.				diaphragm development (GO:0060539)|heart valve morphogenesis (GO:0003179)|negative regulation of cell proliferation (GO:0008285)|skeletal system development (GO:0001501)|ventricular septum morphogenesis (GO:0060412)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	fibroblast growth factor-activated receptor activity (GO:0005007)|heparin binding (GO:0008201)			endometrium(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	13			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			AGTACGGCGCCGAGGGCCGCC	0.657																																						ENST00000398484.2																			0				endometrium(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	13						c.(862-864)gcC>gcT		fibroblast growth factor receptor-like 1			,,	2,4398		0,2,2198	37	38	37		864,864,864	-3.5	0.4	4	dbSNP_134	37	1,8595		0,1,4297	no	coding-synonymous,coding-synonymous,coding-synonymous	FGFRL1	NM_001004356.2,NM_001004358.1,NM_021923.3	,,	0,3,6495	TT,TC,CC		0.0116,0.0455,0.0231	,,	288/505,288/505,288/505	1018244	3,12993	2200	4298	6498	SO:0001819	synonymous_variant	53834				regulation of cell growth	integral to membrane|plasma membrane	fibroblast growth factor receptor activity|heparin binding	g.chr4:1018244C>T		CCDS3344.1	4p16	2013-01-11			ENSG00000127418	ENSG00000127418		"Immunoglobulin superfamily / I-set domain containing"	3693	protein-coding gene	gene with protein product		605830					Standard	NM_021923		Approved		uc003gcg.3	Q8N441	OTTHUMG00000118998	ENST00000398484.2:c.864C>T	4.37:g.1018244C>T						FGFRL1_ENST00000510644.1_Silent_p.A288A|FGFRL1_ENST00000504138.1_Silent_p.A288A|FGFRL1_ENST00000264748.6_Silent_p.A288A	p.A288A			Q8N441	FGRL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.0158)		7	1444	+			288			Ig-like C2-type 3.		B2RAU9|Q6PJN1|Q9BXN7|Q9H4D7	Silent	SNP	ENST00000398484.2	37	c.864C>T	CCDS3344.1																																																																																				0.657	FGFRL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239195.2	NM_021923		16	19	0	0	0	1	0	16	19					T	1018244	C	T	1018244	2	4	435	1	0	0	0	0	0	0	0	1	5869	639	23	2		2	FGFRL1	4	1018244	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	65	1018244	190136032	2197	23122											
RNF212	285498	broad.mit.edu	37	chr4	1107206	1107206	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaggctgaagcacgacgtcCtgtggggcggctggaagcag	8	6	18	9	3	0	2	0	2	0	0	1	4	1	3	1	5	2	4	1	5	2	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:1107206C>A	ENST00000433731.2	-	1	108	c.47G>T	c.(46-48)aGg>aTg	p.R16M	RP11-20I20.2_ENST00000504969.1_RNA|TMED11P_ENST00000502630.1_RNA|RNF212_ENST00000505730.1_5'UTR|RNF212_ENST00000382968.5_Missense_Mutation_p.R16M|RNF212_ENST00000333673.5_Missense_Mutation_p.R16M			Q495C1	RN212_HUMAN	ring finger protein 212	16					chiasma assembly (GO:0051026)|meiotic gene conversion (GO:0006311)|protein sumoylation (GO:0016925)|reciprocal meiotic recombination (GO:0007131)	synaptonemal complex (GO:0000795)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1)	10			OV - Ovarian serous cystadenocarcinoma(23;0.0179)	UCEC - Uterine corpus endometrioid carcinoma (64;0.151)		GCACGACGTCCTGTGGGGCGG	0.692																																						ENST00000382968.5																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1)	10						c.(46-48)aGg>aTg		ring finger protein 212							48	40	43					4																	1107206		2194	4297	6491	SO:0001583	missense	285498						zinc ion binding	g.chr4:1107206C>A	AK096160	CCDS3345.1, CCDS46996.1, CCDS54704.1	4p16.3	2013-02-27	2007-01-19	2007-01-19	ENSG00000178222	ENSG00000178222		"RING-type (C3HC4) zinc fingers"	27729	protein-coding gene	gene with protein product		612041	"hypothetical protein LOC285498"	LOC285498		23396135	Standard	NM_001131034		Approved	FLJ38841	uc003gcj.3	Q495C1	OTTHUMG00000118997	ENST00000433731.2:c.47G>T	4.37:g.1107206C>A	ENSP00000389709:p.Arg16Met					RNF212_ENST00000333673.5_Missense_Mutation_p.R16M|RNF212_ENST00000433731.2_Missense_Mutation_p.R16M|RNF212_ENST00000505730.1_5'UTR	p.R16M	NM_001131034.3|NM_194439.4	NP_001124506.1|NP_919420.1	Q495C1	RN212_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.0179)	UCEC - Uterine corpus endometrioid carcinoma (64;0.151)	1	144	-			16					C9J8N0|Q495C0|Q86W82|Q8IY99|Q8N8U7	Missense_Mutation	SNP	ENST00000433731.2	37	c.47G>T	CCDS46996.1	.	.	.	.	.	.	.	.	.	.	C	4.560	0.104047	0.08731	.	.	ENSG00000178222	ENST00000382968;ENST00000433731;ENST00000333673	D;D;D	0.92446	-3.04;-3.04;-3.04	4.28	0.336	0.15958	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);	1.384920	0.05252	U	0.514137	D	0.90075	0.6900	L	0.29908	0.895	0.09310	N	1	P;D;D;P	0.59767	0.792;0.986;0.972;0.924	B;P;P;B	0.53861	0.263;0.736;0.668;0.345	T	0.79257	-0.1878	10	0.66056	D	0.02	.	4.5215	0.11960	0.0:0.4093:0.31:0.2807	.	16;16;16;16	Q495C1-2;C9J8N0;Q495C1;Q495C1-5	.;.;RN212_HUMAN;.	M	16	ENSP00000372428:R16M;ENSP00000389709:R16M;ENSP00000327481:R16M	ENSP00000327481:R16M	R	-	2	0	RNF212	1097206	0.000000	0.05858	0.000000	0.03702	0.311000	0.27955	-0.386000	0.07370	-0.221000	0.09973	0.585000	0.79938	AGG		0.692	RNF212-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000359124.2	NM_194439		13	10	1	0	4.14922e-12	1	4.48033e-12	13	10					A	1107206	C	A	1107206	3	1	435	1	0	0	0	0	1	0	0	0	13476	681	24	5	886	5	RNF212	4	1107206	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	88962	1107206	190047070	2198	23123											
KIAA1530	57654	broad.mit.edu	37	chr4	1348948	1348948	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cggtggatgtttaaagcgtgCcattgacctgaaggctgaat	10	11	13	7	2	0	3	0	3	0	0	0	4	0	4	2	3	2	2	2	3	4	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:1348948C>T	ENST00000389851.4	+	7	1538	c.1091C>T	c.(1090-1092)gCc>gTc	p.A364V	AC078852.1_ENST00000504748.1_RNA|UVSSA_ENST00000511216.1_Missense_Mutation_p.A364V|UVSSA_ENST00000507531.1_Missense_Mutation_p.A364V	NM_020894.2	NP_065945.2	Q2YD98	UVSSA_HUMAN	UV-stimulated scaffold protein A	364					protein ubiquitination (GO:0016567)|response to UV (GO:0009411)|transcription-coupled nucleotide-excision repair (GO:0006283)	chromosome (GO:0005694)	RNA polymerase II core binding (GO:0000993)										TTAAAGCGTGCCATTGACCTG	0.627																																						ENST00000389851.4																			0											c.(1090-1092)gCc>gTc		UV-stimulated scaffold protein A							63	62	62					4																	1348948		2203	4300	6503	SO:0001583	missense	57654							g.chr4:1348948C>T	BC021930	CCDS33938.1	4p16.3	2012-04-27	2012-04-27	2012-04-27		ENSG00000163945			29304	protein-coding gene	gene with protein product		614632	"KIAA1530"	KIAA1530		10819331, 22466610, 22466611, 22466612	Standard	NM_020894		Approved		uc003gde.4	Q2YD98		ENST00000389851.4:c.1091C>T	4.37:g.1348948C>T	ENSP00000374501:p.Ala364Val					UVSSA_ENST00000507531.1_Missense_Mutation_p.A364V|UVSSA_ENST00000511216.1_Missense_Mutation_p.A364V	p.A364V	NM_020894.2	NP_065945.2	Q2YD98	K1530_HUMAN			7	1538	+			364					A8K9E6|B2RU11|Q8WTX4|Q9P1Z8	Missense_Mutation	SNP	ENST00000389851.4	37	c.1091C>T	CCDS33938.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.271892	0.80469	.	.	ENSG00000163945	ENST00000511216;ENST00000389851;ENST00000507531	T;T;T	0.32515	1.45;1.45;1.45	5.26	5.26	0.73747	.	0.000000	0.85682	D	0.000000	T	0.44052	0.1275	L	0.44542	1.39	0.80722	D	1	D	0.71674	0.998	P	0.61722	0.893	T	0.10660	-1.0620	10	0.15066	T	0.55	.	18.8478	0.92213	0.0:1.0:0.0:0.0	.	364	Q2YD98	K1530_HUMAN	V	364	ENSP00000425130:A364V;ENSP00000374501:A364V;ENSP00000421741:A364V	ENSP00000374501:A364V	A	+	2	0	KIAA1530	1338948	1.000000	0.71417	0.978000	0.43139	0.123000	0.20343	5.829000	0.69316	2.455000	0.83008	0.561000	0.74099	GCC		0.627	UVSSA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359480.1	NM_020894		3	6	0	0	0	1	0	3	6					T	1348948	C	T	1348948	3	4	435	1	0	0	0	0	1	0	0	0	8241	739	26	3	1113	3	KIAA1530	4	1348948	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	241742	1348948	189805328	2199	23124											
CRIPAK	285464	broad.mit.edu	37	chr4	1389230	1389230	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtgccgacgtggagtgcccGcctgctcacgtgcccatatg	5	8	13	15	5	1	0	1	0	0	0	1	2	1	1	4	1	4	1	4	1	1	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:1389230G>A	ENST00000324803.4	+	1	3891	c.931G>A	c.(931-933)Gcc>Acc	p.A311T		NM_175918.3	NP_787114.2	Q8N1N5	CRPAK_HUMAN	cysteine-rich PAK1 inhibitor	311					negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of protein kinase activity (GO:0006469)|regulation of cytoskeleton organization (GO:0051493)|response to estrogen (GO:0043627)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.P310fs*95(1)		NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(1)	35			OV - Ovarian serous cystadenocarcinoma(23;0.0106)			TGGAGTGCCCGCCTGCTCACG	0.672																																						ENST00000324803.4																			1	Deletion - Frameshift(1)	p.P310fs*95(1)	prostate(1)	NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(1)	35						c.(931-933)Gcc>Acc		cysteine-rich PAK1 inhibitor							154	157	156					4																	1389230		2203	4300	6503	SO:0001583	missense	285464				ER-nucleus signaling pathway|negative regulation of protein kinase activity|regulation of cytoskeleton organization|response to estrogen stimulus	endoplasmic reticulum|nucleus|plasma membrane	protein binding	g.chr4:1389230G>A	AK096209	CCDS3349.1	4p16.3	2011-02-10	2006-09-04		ENSG00000179979	ENSG00000179979			26619	protein-coding gene	gene with protein product		610203	"cysteine-rich PAK1inhibitor"			16278681	Standard	NM_175918		Approved	FLJ34443	uc003gdf.2	Q8N1N5	OTTHUMG00000121131	ENST00000324803.4:c.931G>A	4.37:g.1389230G>A	ENSP00000323978:p.Ala311Thr						p.A311T	NM_175918.3	NP_787114.2	Q8N1N5	CRPAK_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.0106)		1	3891	+			311					Q8NB03	Missense_Mutation	SNP	ENST00000324803.4	37	c.931G>A	CCDS3349.1	.	.	.	.	.	.	.	.	.	.	G	12.41	1.930535	0.34096	.	.	ENSG00000179979	ENST00000324803;ENST00000382944	T	0.19105	2.17	0.815	-0.165	0.13355	.	.	.	.	.	T	0.16896	0.0406	N	0.08118	0	0.09310	N	1	D	0.89917	1.0	P	0.58873	0.847	T	0.15037	-1.0451	9	0.45353	T	0.12	.	4.9123	0.13829	0.2555:0.0:0.7445:0.0	.	311	Q8N1N5	CRPAK_HUMAN	T	311;253	ENSP00000323978:A311T	ENSP00000323978:A311T	A	+	1	0	CRIPAK	1379230	0.005000	0.15991	0.001000	0.08648	0.007000	0.05969	0.426000	0.21363	-0.067000	0.12976	0.413000	0.27773	GCC		0.672	CRIPAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241607.2	NM_175918		112	136	0	0	0	1	0	112	136					A	1389230	G	A	1389230	3	1	435	1	0	0	0	0	1	0	0	0	3877	1087	38	1	933	1	CRIPAK	4	1389230	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	40282	1389230	189765046	2200	23125											
CRIPAK	285464	broad.mit.edu	37	chr4	1389587	1389587	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctcatggtggctttttaataCgtttttatgtcaaggatccc	8	17	8	8	1	2	0	2	0	0	0	3	1	3	1	1	3	1	2	1	3	4	7			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:1389587C>T	ENST00000324803.4	+	1	4248	c.1288C>T	c.(1288-1290)Cgt>Tgt	p.R430C		NM_175918.3	NP_787114.2	Q8N1N5	CRPAK_HUMAN	cysteine-rich PAK1 inhibitor	430	Interaction with PAK1.				negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of protein kinase activity (GO:0006469)|regulation of cytoskeleton organization (GO:0051493)|response to estrogen (GO:0043627)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.R430C(2)		NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(1)	35			OV - Ovarian serous cystadenocarcinoma(23;0.0106)			CTTTTTAATACGTTTTTATGT	0.443																																						ENST00000324803.4																			2	Substitution - Missense(2)	p.R430C(2)	lung(1)|breast(1)	NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(1)	35						c.(1288-1290)Cgt>Tgt		cysteine-rich PAK1 inhibitor							135	130	132					4																	1389587		2203	4300	6503	SO:0001583	missense	285464				ER-nucleus signaling pathway|negative regulation of protein kinase activity|regulation of cytoskeleton organization|response to estrogen stimulus	endoplasmic reticulum|nucleus|plasma membrane	protein binding	g.chr4:1389587C>T	AK096209	CCDS3349.1	4p16.3	2011-02-10	2006-09-04		ENSG00000179979	ENSG00000179979			26619	protein-coding gene	gene with protein product		610203	"cysteine-rich PAK1inhibitor"			16278681	Standard	NM_175918		Approved	FLJ34443	uc003gdf.2	Q8N1N5	OTTHUMG00000121131	ENST00000324803.4:c.1288C>T	4.37:g.1389587C>T	ENSP00000323978:p.Arg430Cys						p.R430C	NM_175918.3	NP_787114.2	Q8N1N5	CRPAK_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.0106)		1	4248	+			430			Interaction with PAK1.		Q8NB03	Missense_Mutation	SNP	ENST00000324803.4	37	c.1288C>T	CCDS3349.1	.	.	.	.	.	.	.	.	.	.	C	9.578	1.122718	0.20877	.	.	ENSG00000179979	ENST00000324803;ENST00000382944	T	0.25912	1.77	1.47	-0.439	0.12264	.	.	.	.	.	T	0.15435	0.0372	N	0.08118	0	0.09310	N	1	D	0.71674	0.998	P	0.50136	0.632	T	0.13229	-1.0517	9	0.87932	D	0	.	3.9842	0.09507	0.0:0.5459:0.0:0.4541	.	430	Q8N1N5	CRPAK_HUMAN	C	430;372	ENSP00000323978:R430C	ENSP00000323978:R430C	R	+	1	0	CRIPAK	1379587	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.902000	0.04088	-0.197000	0.10350	-0.229000	0.12294	CGT		0.443	CRIPAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241607.2	NM_175918		20	39	0	0	0	1	0	20	39					T	1389587	C	T	1389587	3	4	435	1	0	0	0	0	1	0	0	0	3877	536	19	1	1290	1	CRIPAK	4	1389587	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	357	1389587	189764689	2201	23126											
SLBP	7884	broad.mit.edu	37	chr4	1696566	1696566	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agattcaaggtctacagggtGtctgttaaacaagatccaac	14	10	9	8	0	3	2	1	0	2	2	4	2	4	2	1	2	3	1	1	2	6	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:1696566G>A	ENST00000489418.1	-	7	997	c.631C>T	c.(631-633)Cac>Tac	p.H211Y	SLBP_ENST00000488267.1_Splice_Site_p.H176Y|SLBP_ENST00000318386.4_Splice_Site_p.H218Y|SLBP_ENST00000429429.2_Splice_Site_p.H172Y	NM_006527.2	NP_006518.1	Q14493	SLBP_HUMAN	stem-loop binding protein	211					gene expression (GO:0010467)|histone mRNA 3'-end processing (GO:0006398)|histone mRNA metabolic process (GO:0008334)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA transport (GO:0051028)|nuclear cell cycle DNA replication (GO:0033260)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|histone pre-mRNA 3'end processing complex (GO:0071204)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	histone pre-mRNA DCP binding (GO:0071208)|histone pre-mRNA stem-loop binding (GO:0071207)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)			endometrium(1)|large_intestine(2)|lung(2)	5		Breast(71;0.212)|all_epithelial(65;0.241)	OV - Ovarian serous cystadenocarcinoma(23;0.0055)			TCTACAGGGTGTCTGTTAAAC	0.498																																						ENST00000489418.1																			0				endometrium(1)|large_intestine(2)|lung(2)	5						c.e7-1		stem-loop binding protein							113	106	108					4																	1696566		2203	4300	6503	SO:0001630	splice_region_variant	7884				DNA replication involved in S phase|histone mRNA 3'-end processing|mRNA export from nucleus|regulation of S phase|termination of RNA polymerase II transcription	cytosol|histone pre-mRNA 3'end processing complex|nucleoplasm	histone pre-mRNA DCP binding|histone pre-mRNA stem-loop binding|protein binding	g.chr4:1696566G>A	Z71188	CCDS3350.1	4p16.3	2008-02-11	2008-02-11		ENSG00000163950	ENSG00000163950			10904	protein-coding gene	gene with protein product	"histone binding protein"	602422	"stem-loop (histone) binding protein"			9049306, 1338771	Standard	NM_006527		Approved	HBP	uc003gdi.1	Q14493	OTTHUMG00000089349	ENST00000489418.1:c.630-1C>T	4.37:g.1696566G>A						SLBP_ENST00000318386.4_Splice_Site_p.H218_splice|SLBP_ENST00000429429.2_Splice_Site_p.H172_splice|SLBP_ENST00000488267.1_Splice_Site_p.H176_splice	p.H211_splice	NM_006527.2	NP_006518.1	Q14493	SLBP_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.0055)		7	997	-		Breast(71;0.212)|all_epithelial(65;0.241)	211					B3KRJ5	Splice_Site	SNP	ENST00000489418.1	37	c.629_splice	CCDS3350.1	.	.	.	.	.	.	.	.	.	.	G	5.595	0.294598	0.10567	.	.	ENSG00000163950	ENST00000429429;ENST00000489418;ENST00000460392;ENST00000318386;ENST00000488267	.	.	.	5.36	4.43	0.53597	.	0.941805	0.09032	N	0.858585	T	0.24509	0.0594	N	0.16478	0.41	0.09310	N	1	B;B;B;B;B	0.09022	0.002;0.0;0.0;0.001;0.0	B;B;B;B;B	0.08055	0.003;0.002;0.002;0.002;0.002	T	0.17379	-1.0371	9	0.06099	T	0.92	-22.1407	9.6707	0.40011	0.0:0.0:0.7407:0.2593	.	176;218;172;191;211	E7EUV9;F8W8D3;B3KRJ5;C9IY53;Q14493	.;.;.;.;SLBP_HUMAN	Y	172;211;191;218;176	.	ENSP00000316490:H218Y	H	-	1	0	SLBP	1666364	0.690000	0.27699	0.676000	0.29932	0.275000	0.26752	1.707000	0.37888	2.526000	0.85167	0.650000	0.86243	CAC		0.498	SLBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000203176.1	NM_006527	Missense_Mutation	19	32	0	0	0	1	0	19	32					A	1696566	G	A	1696566	5	1	435	1	0	0	0	0	0	0	1	0	14372	1391	48	3	189	3	SLBP	4	1696566	Splice_Site	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	306979	1696566	189457710	2202	23127											
TACC3	10460	broad.mit.edu	37	chr4	1730475	1730475	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agcggctgaacagttgcatgCtgggcctgccacggaggagc	8	6	16	11	2	0	1	0	1	0	0	0	3	0	3	2	4	6	4	2	4	1	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:1730475C>T	ENST00000313288.4	+	4	1452	c.1346C>T	c.(1345-1347)gCt>gTt	p.A449V		NM_006342.2	NP_006333.1	Q9Y6A5	TACC3_HUMAN	transforming, acidic coiled-coil containing protein 3	449					astral microtubule organization (GO:0030953)|cerebral cortex development (GO:0021987)|cytoplasmic sequestering of transcription factor (GO:0042994)|hemopoiesis (GO:0030097)|interkinetic nuclear migration (GO:0022027)|neurogenesis (GO:0022008)|regulation of cell cycle (GO:0051726)|regulation of microtubule-based process (GO:0032886)|response to hypoxia (GO:0001666)	centrosome (GO:0005813)|cytoplasm (GO:0005737)				central_nervous_system(1)|endometrium(4)|large_intestine(1)|lung(10)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	25		Breast(71;0.212)|all_epithelial(65;0.241)	OV - Ovarian serous cystadenocarcinoma(23;0.00765)|Epithelial(3;0.0126)			CAGTTGCATGCTGGGCCTGCC	0.642																																					Ovarian(120;482 2294 11894 35824)	ENST00000313288.4																			0				central_nervous_system(1)|endometrium(4)|large_intestine(1)|lung(10)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	25						c.(1345-1347)gCt>gTt		transforming, acidic coiled-coil containing protein 3							29	33	32					4																	1730475		2203	4300	6503	SO:0001583	missense	10460					centrosome		g.chr4:1730475C>T	AF093543	CCDS3352.1	4p16.3	2008-07-29			ENSG00000013810	ENSG00000013810			11524	protein-coding gene	gene with protein product		605303				17675670	Standard	NM_006342		Approved	ERIC1	uc003gdo.3	Q9Y6A5	OTTHUMG00000089535	ENST00000313288.4:c.1346C>T	4.37:g.1730475C>T	ENSP00000326550:p.Ala449Val						p.A449V	NM_006342.2	NP_006333.1	Q9Y6A5	TACC3_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.00765)|Epithelial(3;0.0126)		4	1452	+		Breast(71;0.212)|all_epithelial(65;0.241)	449					Q2NKK4|Q3KQS5|Q9UMQ1	Missense_Mutation	SNP	ENST00000313288.4	37	c.1346C>T	CCDS3352.1	.	.	.	.	.	.	.	.	.	.	C	8.537	0.872404	0.17322	.	.	ENSG00000013810	ENST00000313288	T	0.10192	2.9	3.66	0.464	0.16706	.	2.563540	0.02043	N	0.049467	T	0.09992	0.0245	L	0.43152	1.355	0.09310	N	1	B;B	0.28713	0.22;0.027	B;B	0.23574	0.047;0.011	T	0.27226	-1.0080	10	0.25751	T	0.34	0.8503	4.6123	0.12408	0.1522:0.6077:0.1483:0.0918	.	449;449	B4DYJ1;Q9Y6A5	.;TACC3_HUMAN	V	449	ENSP00000326550:A449V	ENSP00000326550:A449V	A	+	2	0	TACC3	1700273	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.111000	0.10807	0.159000	0.19401	-0.399000	0.06403	GCT		0.642	TACC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000203730.2			11	13	0	0	0	1	0	11	13					T	1730475	C	T	1730475	3	4	435	1	0	0	0	0	1	0	0	0	15500	797	28	3	1356	3	TACC3	4	1730475	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	33909	1730475	189423801	2203	23128											
TACC3	10460	broad.mit.edu	37	chr4	1739054	1739054	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgggagcactggacattcCtgtaagtccttgagtccctc	7	12	10	12	0	0	1	0	1	0	0	4	3	3	3	3	2	1	2	3	2	1	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:1739054C>A	ENST00000313288.4	+	9	1941	c.1835C>A	c.(1834-1836)cCt>cAt	p.P612H		NM_006342.2	NP_006333.1	Q9Y6A5	TACC3_HUMAN	transforming, acidic coiled-coil containing protein 3	612					astral microtubule organization (GO:0030953)|cerebral cortex development (GO:0021987)|cytoplasmic sequestering of transcription factor (GO:0042994)|hemopoiesis (GO:0030097)|interkinetic nuclear migration (GO:0022027)|neurogenesis (GO:0022008)|regulation of cell cycle (GO:0051726)|regulation of microtubule-based process (GO:0032886)|response to hypoxia (GO:0001666)	centrosome (GO:0005813)|cytoplasm (GO:0005737)				central_nervous_system(1)|endometrium(4)|large_intestine(1)|lung(10)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	25		Breast(71;0.212)|all_epithelial(65;0.241)	OV - Ovarian serous cystadenocarcinoma(23;0.00765)|Epithelial(3;0.0126)			CTGGACATTCCTGTAAGTCCT	0.517																																					Ovarian(120;482 2294 11894 35824)	ENST00000313288.4																			0				central_nervous_system(1)|endometrium(4)|large_intestine(1)|lung(10)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	25						c.e9+1		transforming, acidic coiled-coil containing protein 3							146	117	127					4																	1739054		2203	4300	6503	SO:0001630	splice_region_variant	10460					centrosome		g.chr4:1739054C>A	AF093543	CCDS3352.1	4p16.3	2008-07-29			ENSG00000013810	ENSG00000013810			11524	protein-coding gene	gene with protein product		605303				17675670	Standard	NM_006342		Approved	ERIC1	uc003gdo.3	Q9Y6A5	OTTHUMG00000089535	ENST00000313288.4:c.1836+1C>A	4.37:g.1739054C>A							p.P612_splice	NM_006342.2	NP_006333.1	Q9Y6A5	TACC3_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.00765)|Epithelial(3;0.0126)		9	1941	+		Breast(71;0.212)|all_epithelial(65;0.241)	612					Q2NKK4|Q3KQS5|Q9UMQ1	Splice_Site	SNP	ENST00000313288.4	37	c.1836_splice	CCDS3352.1	.	.	.	.	.	.	.	.	.	.	C	15.91	2.970920	0.53614	.	.	ENSG00000013810	ENST00000313288	T	0.11604	2.76	4.4	4.4	0.53042	.	0.243781	0.28338	N	0.015712	T	0.30916	0.0780	M	0.73217	2.22	0.09310	N	1	D;D;D	0.89917	0.998;1.0;1.0	P;D;D	0.87578	0.829;0.998;0.994	T	0.03413	-1.1039	10	0.87932	D	0	-14.1612	12.8613	0.57915	0.0:1.0:0.0:0.0	.	612;612;612	Q2NKK4;B4DYJ1;Q9Y6A5	.;.;TACC3_HUMAN	H	612	ENSP00000326550:P612H	ENSP00000326550:P612H	P	+	2	0	TACC3	1708852	0.016000	0.18221	0.009000	0.14445	0.005000	0.04900	3.017000	0.49615	2.172000	0.68678	0.555000	0.69702	CCT		0.517	TACC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000203730.2		Missense_Mutation	6	6	1	0	6.5536e-12	1	7.07361e-12	6	6					A	1739054	C	A	1739054	5	1	435	1	0	0	0	0	0	0	1	0	15500	695	24	5	1865	5	TACC3	4	1739054	Splice_Site	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	8579	1739054	189415222	2204	23129											
FGFR3	2261	broad.mit.edu	37	chr4	1807829	1807829	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctggtgaccgaggacaacGtgatgaagatcgcagacttc	11	8	13	9	3	0	5	0	3	0	2	2	7	0	6	1	2	2	2	1	2	2	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:1807829G>A	ENST00000260795.2	+	13	1990	c.1888G>A	c.(1888-1890)Gtg>Atg	p.V630M	FGFR3_ENST00000440486.2_Missense_Mutation_p.V630M|FGFR3_ENST00000412135.2_Missense_Mutation_p.V518M|FGFR3_ENST00000481110.2_Missense_Mutation_p.V631M|FGFR3_ENST00000352904.1_Missense_Mutation_p.V518M|FGFR3_ENST00000340107.4_Missense_Mutation_p.V632M			P22607	FGFR3_HUMAN	fibroblast growth factor receptor 3	630	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				alveolar secondary septum development (GO:0061144)|axonogenesis involved in innervation (GO:0060385)|bone maturation (GO:0070977)|bone mineralization (GO:0030282)|bone morphogenesis (GO:0060349)|cell-cell signaling (GO:0007267)|central nervous system myelination (GO:0022010)|chondrocyte differentiation (GO:0002062)|chondrocyte proliferation (GO:0035988)|cochlea development (GO:0090102)|digestive tract morphogenesis (GO:0048546)|endochondral bone growth (GO:0003416)|endochondral ossification (GO:0001958)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell fate commitment (GO:0072148)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor apoptotic signaling pathway (GO:1902178)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inner ear receptor cell differentiation (GO:0060113)|insulin receptor signaling pathway (GO:0008286)|JAK-STAT cascade (GO:0007259)|lens fiber cell development (GO:0070307)|lens morphogenesis in camera-type eye (GO:0002089)|MAPK cascade (GO:0000165)|morphogenesis of an epithelium (GO:0002009)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of developmental growth (GO:0048640)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of mitosis (GO:0045839)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway (GO:0090080)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|protein autophosphorylation (GO:0046777)|response to axon injury (GO:0048678)|skeletal system development (GO:0001501)|somatic stem cell maintenance (GO:0035019)|substantia nigra development (GO:0021762)	cell surface (GO:0009986)|cytoplasmic side of plasma membrane (GO:0009898)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|fibroblast growth factor binding (GO:0017134)|fibroblast growth factor-activated receptor activity (GO:0005007)|protein tyrosine kinase activity (GO:0004713)	p.V630M(1)		NS(1)|central_nervous_system(5)|cervix(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(40)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(9)|skin(339)|soft_tissue(4)|testis(2)|upper_aerodigestive_tract(58)|urinary_tract(2607)	3091		Breast(71;0.212)|all_epithelial(65;0.241)	all cancers(2;0.000145)|OV - Ovarian serous cystadenocarcinoma(23;0.0019)|Epithelial(3;0.00221)|GBM - Glioblastoma multiforme(2;0.234)		Palifermin(DB00039)|Pazopanib(DB06589)|Ponatinib(DB08901)	CGAGGACAACGTGATGAAGAT	0.657		1	"Mis, T"	"IGH@, ETV6"	"bladder, MM, T-cell lymphoma"		"Hypochondroplasia, Thanatophoric dysplasia"		Saethre-Chotzen syndrome;Muenke syndrome																													ENST00000340107.4		1		Dom	yes		4	4p16.3	2261	"Mis, T"	fibroblast growth factor receptor 3	yes	"Hypochondroplasia, Thanatophoric dysplasia"	"L, E"	"IGH@, ETV6"		"bladder, MM, T-cell lymphoma"		1	Substitution - Missense(1)	p.V630M(1)	upper_aerodigestive_tract(1)	NS(1)|central_nervous_system(5)|cervix(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(40)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(9)|skin(339)|soft_tissue(4)|testis(2)|upper_aerodigestive_tract(58)|urinary_tract(2607)	3091						c.(1894-1896)Gtg>Atg		fibroblast growth factor receptor 3	Palifermin(DB00039)						47	46	46					4																	1807829		2202	4300	6502	SO:0001583	missense	2261	Saethre-Chotzen syndrome;Muenke syndrome	Familial Cancer Database	Acrocephalosyndactyly type III;Muenke Nonsyndromic Coronal Craniosynostosis, FGFR3-related Craniosynostosis	bone maturation|cell growth|insulin receptor signaling pathway|JAK-STAT cascade|MAPKKK cascade|negative regulation of developmental growth|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|identical protein binding	g.chr4:1807829G>A	M64347	CCDS3353.1, CCDS3354.1, CCDS54706.1	4p16.3	2013-01-11	2008-08-01		ENSG00000068078	ENSG00000068078		"CD molecules", "Immunoglobulin superfamily / I-set domain containing"	3690	protein-coding gene	gene with protein product		134934	"achondroplasia, thanatophoric dwarfism"	ACH		1847508	Standard	NM_000142		Approved	CEK2, JTK4, CD333	uc003gdu.2	P22607	OTTHUMG00000121148	ENST00000260795.2:c.1888G>A	4.37:g.1807829G>A	ENSP00000260795:p.Val630Met					FGFR3_ENST00000412135.2_Missense_Mutation_p.V518M|FGFR3_ENST00000481110.2_Missense_Mutation_p.V631M|FGFR3_ENST00000440486.2_Missense_Mutation_p.V630M|FGFR3_ENST00000352904.1_Missense_Mutation_p.V518M|FGFR3_ENST00000260795.2_Missense_Mutation_p.V630M	p.V632M	NM_001163213.1	NP_001156685.1	P22607	FGFR3_HUMAN	all cancers(2;0.000145)|OV - Ovarian serous cystadenocarcinoma(23;0.0019)|Epithelial(3;0.00221)|GBM - Glioblastoma multiforme(2;0.234)		14	2150	+		Breast(71;0.212)|all_epithelial(65;0.241)	630			Protein kinase.		D3DVP9|D3DVQ0|Q14308|Q16294|Q16608|Q59FL9	Missense_Mutation	SNP	ENST00000260795.2	37	c.1894G>A	CCDS3353.1	.	.	.	.	.	.	.	.	.	.	g	16.90	3.249026	0.59103	.	.	ENSG00000068078	ENST00000481110;ENST00000340107;ENST00000440486;ENST00000412135;ENST00000260795;ENST00000352904	D;D;D;D;D;D	0.91945	-2.94;-2.94;-2.94;-2.94;-2.94;-2.94	4.31	4.31	0.51392	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.063240	0.64402	D	0.000007	D	0.94198	0.8138	L	0.42744	1.35	0.80722	D	1	D;D;D;D	0.89917	1.0;0.994;1.0;1.0	D;P;D;D	0.81914	0.99;0.677;0.988;0.995	D	0.95144	0.8266	10	0.87932	D	0	.	17.1963	0.86893	0.0:0.0:1.0:0.0	.	632;518;630;631	P22607-2;P22607-3;P22607;F8W9L4	.;.;FGFR3_HUMAN;.	M	631;632;630;518;630;518	ENSP00000420533:V631M;ENSP00000339824:V632M;ENSP00000414914:V630M;ENSP00000412903:V518M;ENSP00000260795:V630M;ENSP00000231803:V518M	ENSP00000260795:V630M	V	+	1	0	FGFR3	1777627	1.000000	0.71417	1.000000	0.80357	0.760000	0.43138	7.581000	0.82535	2.123000	0.65237	0.442000	0.29010	GTG		0.657	FGFR3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000241632.2	NM_000142		10	16	0	0	0	1	0	10	16					A	1807829	G	A	1807829	3	1	435	1	0	0	0	0	1	0	0	0	5867	1145	40	1	2093	1	FGFR3	4	1807829	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	68775	1807829	189346447	2205	23130											
LETM1	3954	broad.mit.edu	37	chr4	1818468	1818468	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	actcaccccgtgggcatgccGttggccggggccagcttgcc	4	7	14	16	3	1	0	1	0	0	0	1	0	1	0	6	4	3	3	6	4	0	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:1818468G>A	ENST00000302787.2	-	12	2213	c.1917C>T	c.(1915-1917)aaC>aaT	p.N639N		NM_012318.2	NP_036450.1	O95202	LETM1_HUMAN	leucine zipper-EF-hand containing transmembrane protein 1	639					cristae formation (GO:0042407)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(2)|large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1)	13			all cancers(2;0.00756)|OV - Ovarian serous cystadenocarcinoma(23;0.00989)|Epithelial(3;0.0141)			TGGGCATGCCGTTGGCCGGGG	0.622																																						ENST00000302787.2																			0				breast(3)|central_nervous_system(2)|large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1)	13						c.(1915-1917)aaC>aaT		leucine zipper-EF-hand containing transmembrane protein 1							82	70	74					4																	1818468		2203	4300	6503	SO:0001819	synonymous_variant	3954				cristae formation	integral to membrane|mitochondrial inner membrane	calcium ion binding|protein binding	g.chr4:1818468G>A	AF061025	CCDS3355.1	4p16.3	2013-01-10			ENSG00000168924	ENSG00000168924		"EF-hand domain containing"	6556	protein-coding gene	gene with protein product	"Mdm38 homolog (yeast)"	604407				10486213	Standard	NM_012318		Approved		uc003gdv.3	O95202	OTTHUMG00000121149	ENST00000302787.2:c.1917C>T	4.37:g.1818468G>A							p.N639N	NM_012318.2	NP_036450.1	O95202	LETM1_HUMAN	all cancers(2;0.00756)|OV - Ovarian serous cystadenocarcinoma(23;0.00989)|Epithelial(3;0.0141)		12	2213	-			639					B4DED2|Q9UF65	Silent	SNP	ENST00000302787.2	37	c.1917C>T	CCDS3355.1																																																																																				0.622	LETM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241634.1			4	33	0	0	0	1	0	4	33					A	1818468	G	A	1818468	2	1	435	1	0	0	0	0	0	0	0	1	8734	1136	40	1		1	LETM1	4	1818468	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	10639	1818468	189335808	2206	23131											
LETM1	3954	broad.mit.edu	37	chr4	1834632	1834632	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctcaaataatttggaaaaacGcatgatttcctcattgctgg	13	13	7	8	1	2	1	2	1	0	0	3	2	3	2	1	2	2	2	1	2	4	4	rs144099418		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:1834632G>A	ENST00000302787.2	-	6	1215	c.919C>T	c.(919-921)Cgt>Tgt	p.R307C		NM_012318.2	NP_036450.1	O95202	LETM1_HUMAN	leucine zipper-EF-hand containing transmembrane protein 1	307	LETM1.				cristae formation (GO:0042407)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(2)|large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1)	13			all cancers(2;0.00756)|OV - Ovarian serous cystadenocarcinoma(23;0.00989)|Epithelial(3;0.0141)			TTGGAAAAACGCATGATTTCC	0.602																																						ENST00000302787.2																			0				breast(3)|central_nervous_system(2)|large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1)	13						c.(919-921)Cgt>Tgt		leucine zipper-EF-hand containing transmembrane protein 1		G	CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	98	86	90		919	4.6	1	4	dbSNP_134	90	1,8599	1.2+/-3.3	0,1,4299	no	missense	LETM1	NM_012318.2	180	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	probably-damaging	307/740	1834632	2,13004	2203	4300	6503	SO:0001583	missense	3954				cristae formation	integral to membrane|mitochondrial inner membrane	calcium ion binding|protein binding	g.chr4:1834632G>A	AF061025	CCDS3355.1	4p16.3	2013-01-10			ENSG00000168924	ENSG00000168924		"EF-hand domain containing"	6556	protein-coding gene	gene with protein product	"Mdm38 homolog (yeast)"	604407				10486213	Standard	NM_012318		Approved		uc003gdv.3	O95202	OTTHUMG00000121149	ENST00000302787.2:c.919C>T	4.37:g.1834632G>A	ENSP00000305653:p.Arg307Cys						p.R307C	NM_012318.2	NP_036450.1	O95202	LETM1_HUMAN	all cancers(2;0.00756)|OV - Ovarian serous cystadenocarcinoma(23;0.00989)|Epithelial(3;0.0141)		6	1215	-			307			LETM1.		B4DED2|Q9UF65	Missense_Mutation	SNP	ENST00000302787.2	37	c.919C>T	CCDS3355.1	.	.	.	.	.	.	.	.	.	.	G	19.00	3.741092	0.69304	2.27E-4	1.16E-4	ENSG00000168924	ENST00000302787	T	0.45668	0.89	4.61	4.61	0.57282	LETM1-like (1);	0.057800	0.64402	D	0.000006	T	0.60508	0.2274	M	0.66439	2.03	0.80722	D	1	D	0.89917	1.0	D	0.69307	0.963	T	0.65018	-0.6270	10	0.87932	D	0	-12.0794	13.4205	0.60994	0.0:0.0:0.8324:0.1676	.	307	O95202	LETM1_HUMAN	C	307	ENSP00000305653:R307C	ENSP00000305653:R307C	R	-	1	0	LETM1	1804430	1.000000	0.71417	1.000000	0.80357	0.902000	0.53008	3.890000	0.56220	2.131000	0.65755	0.561000	0.74099	CGT		0.602	LETM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241634.1			25	49	0	0	0	1	0	25	49					A	1834632	G	A	1834632	3	1	435	1	0	0	0	0	1	0	0	0	8734	1087	38	1	1336	1	LETM1	4	1834632	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	16164	1834632	189319644	2207	23132											
WHSC1	7468	broad.mit.edu	37	chr4	1918645	1918645	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acgtacagttctttggtgacGccccagaaagagcttggata	11	10	11	9	2	1	3	0	1	1	2	1	4	1	4	2	2	2	3	2	2	3	5	rs372805518		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:1918645G>A	ENST00000382895.3	+	6	1239	c.808G>A	c.(808-810)Gcc>Acc	p.A270T	WHSC1_ENST00000382891.5_Missense_Mutation_p.A270T|WHSC1_ENST00000514045.1_Missense_Mutation_p.A270T|WHSC1_ENST00000420906.2_Missense_Mutation_p.A270T|WHSC1_ENST00000508803.1_Missense_Mutation_p.A270T|WHSC1_ENST00000503128.1_Missense_Mutation_p.A270T|WHSC1_ENST00000382892.2_Missense_Mutation_p.A270T|WHSC1_ENST00000398261.1_Missense_Mutation_p.A270T	NM_133330.2	NP_579877.1	O96028	NSD2_HUMAN	Wolf-Hirschhorn syndrome candidate 1	270	PWWP 1. {ECO:0000255|PROSITE- ProRule:PRU00162}.				anatomical structure morphogenesis (GO:0009653)|atrial septum primum morphogenesis (GO:0003289)|atrial septum secundum morphogenesis (GO:0003290)|bone development (GO:0060348)|membranous septum morphogenesis (GO:0003149)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	48		all_epithelial(65;1.34e-05)	OV - Ovarian serous cystadenocarcinoma(23;0.00606)	STAD - Stomach adenocarcinoma(129;0.232)		CTTTGGTGACGCCCCAGAAAG	0.418			T	IGH@	MM																																	ENST00000503128.1				Dom	yes		4	4p16.3	7468	T	Wolf-Hirschhorn syndrome candidate 1(MMSET)			L	IGH@		MM		0				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	48						c.(808-810)Gcc>Acc		Wolf-Hirschhorn syndrome candidate 1		G	THR/ALA,THR/ALA,THR/ALA,THR/ALA,THR/ALA,THR/ALA	0,4406		0,0,2203	86	90	89		808,808,808,808,808,808	5.2	1	4		89	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense,missense,missense	WHSC1	NM_001042424.2,NM_007331.1,NM_133330.2,NM_133331.2,NM_133334.2,NM_133335.3	58,58,58,58,58,58	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	270/1366,270/630,270/1366,270/1366,270/648,270/1366	1918645	1,13005	2203	4300	6503	SO:0001583	missense	7468				anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|cytoplasm|nuclear membrane|nucleolus	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding	g.chr4:1918645G>A	AF083386	CCDS3356.1, CCDS33940.1, CCDS46999.1	4p16.3	2013-05-20			ENSG00000109685	ENSG00000109685		"Zinc fingers, PHD-type"	12766	protein-coding gene	gene with protein product		602952				9618163, 9787135	Standard	NM_133334		Approved	MMSET, NSD2	uc003gdz.4	O96028	OTTHUMG00000121147	ENST00000382895.3:c.808G>A	4.37:g.1918645G>A	ENSP00000372351:p.Ala270Thr					WHSC1_ENST00000382895.3_Missense_Mutation_p.A270T|WHSC1_ENST00000508803.1_Missense_Mutation_p.A270T|WHSC1_ENST00000382891.5_Missense_Mutation_p.A270T|WHSC1_ENST00000382892.2_Missense_Mutation_p.A270T|WHSC1_ENST00000398261.1_Missense_Mutation_p.A270T|WHSC1_ENST00000420906.2_Missense_Mutation_p.A270T|WHSC1_ENST00000514045.1_Missense_Mutation_p.A270T	p.A270T			O96028	NSD2_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.00606)	STAD - Stomach adenocarcinoma(129;0.232)	4	1015	+		all_epithelial(65;1.34e-05)	270			PWWP 1.		A2A2T2|A2A2T3|A2A2T4|A7MCZ1|D3DVQ2|O96031|Q4VBY8|Q672J1|Q6IS00|Q86V01|Q9BZB4|Q9UI92|Q9UPR2	Missense_Mutation	SNP	ENST00000382895.3	37	c.808G>A	CCDS33940.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.943425	0.73672	0.0	1.16E-4	ENSG00000109685	ENST00000508803;ENST00000514045;ENST00000382891;ENST00000382892;ENST00000420906;ENST00000382895;ENST00000503128;ENST00000509115;ENST00000398261	T;T;T;T;T;T;T;T;T	0.70749	-0.51;-0.51;-0.51;-0.51;-0.51;-0.51;-0.51;-0.51;-0.51	5.25	5.25	0.73442	PWWP (3);	0.000000	0.64402	D	0.000020	T	0.67869	0.2939	N	0.12746	0.255	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;0.998;0.999	D;D;P;D	0.78314	0.927;0.991;0.85;0.946	T	0.61486	-0.7053	10	0.08599	T	0.76	.	14.7421	0.69464	0.0:0.0:0.855:0.145	.	270;270;270;270	O96028-3;O96028;O96028-5;O96028-6	.;NSD2_HUMAN;.;.	T	270	ENSP00000423972:A270T;ENSP00000421681:A270T;ENSP00000372347:A270T;ENSP00000372348:A270T;ENSP00000399251:A270T;ENSP00000372351:A270T;ENSP00000425761:A270T;ENSP00000422878:A270T;ENSP00000381311:A270T	ENSP00000308780:A270T	A	+	1	0	WHSC1	1888443	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.795000	0.62489	2.717000	0.92951	0.655000	0.94253	GCC		0.418	WHSC1-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366269.2	NM_133330		5	96	0	0	0	1	0	5	96					A	1918645	G	A	1918645	3	1	435	1	0	0	0	0	1	0	0	0	17359	1087	38	1	818	1	WHSC1	4	1918645	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	84013	1918645	189235631	2208	23133											
WHSC1	7468	broad.mit.edu	37	chr4	1957028	1957028	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaaggggaagcgacaccacGcccacgtcaacgtgagctgg	11	3	15	12	4	1	1	1	1	0	0	1	4	1	3	2	4	3	1	2	4	3	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:1957028G>A	ENST00000382895.3	+	15	2910	c.2479G>A	c.(2479-2481)Gcc>Acc	p.A827T	WHSC1_ENST00000382891.5_Missense_Mutation_p.A827T|WHSC1_ENST00000508803.1_Missense_Mutation_p.A827T|WHSC1_ENST00000382888.3_Missense_Mutation_p.A175T|WHSC1_ENST00000482415.2_3'UTR|WHSC1_ENST00000382892.2_Missense_Mutation_p.A827T	NM_133330.2	NP_579877.1	O96028	NSD2_HUMAN	Wolf-Hirschhorn syndrome candidate 1	827					anatomical structure morphogenesis (GO:0009653)|atrial septum primum morphogenesis (GO:0003289)|atrial septum secundum morphogenesis (GO:0003290)|bone development (GO:0060348)|membranous septum morphogenesis (GO:0003149)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	48		all_epithelial(65;1.34e-05)	OV - Ovarian serous cystadenocarcinoma(23;0.00606)	STAD - Stomach adenocarcinoma(129;0.232)		GCGACACCACGCCCACGTCAA	0.612			T	IGH@	MM																																	ENST00000382895.3				Dom	yes		4	4p16.3	7468	T	Wolf-Hirschhorn syndrome candidate 1(MMSET)			L	IGH@		MM		0				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	48						c.(2479-2481)Gcc>Acc		Wolf-Hirschhorn syndrome candidate 1							84	71	76					4																	1957028		2203	4300	6503	SO:0001583	missense	7468				anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|cytoplasm|nuclear membrane|nucleolus	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding	g.chr4:1957028G>A	AF083386	CCDS3356.1, CCDS33940.1, CCDS46999.1	4p16.3	2013-05-20			ENSG00000109685	ENSG00000109685		"Zinc fingers, PHD-type"	12766	protein-coding gene	gene with protein product		602952				9618163, 9787135	Standard	NM_133334		Approved	MMSET, NSD2	uc003gdz.4	O96028	OTTHUMG00000121147	ENST00000382895.3:c.2479G>A	4.37:g.1957028G>A	ENSP00000372351:p.Ala827Thr					WHSC1_ENST00000508803.1_Missense_Mutation_p.A827T|WHSC1_ENST00000382891.5_Missense_Mutation_p.A827T|WHSC1_ENST00000382892.2_Missense_Mutation_p.A827T|WHSC1_ENST00000482415.2_3'UTR|WHSC1_ENST00000382888.3_Missense_Mutation_p.A175T	p.A827T	NM_133330.2	NP_579877.1	O96028	NSD2_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.00606)	STAD - Stomach adenocarcinoma(129;0.232)	15	2910	+		all_epithelial(65;1.34e-05)	827					A2A2T2|A2A2T3|A2A2T4|A7MCZ1|D3DVQ2|O96031|Q4VBY8|Q672J1|Q6IS00|Q86V01|Q9BZB4|Q9UI92|Q9UPR2	Missense_Mutation	SNP	ENST00000382895.3	37	c.2479G>A	CCDS33940.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.02|15.02	2.710324|2.710324	0.48517|0.48517	.|.	.|.	ENSG00000109685|ENSG00000109685	ENST00000508803;ENST00000382891;ENST00000382892;ENST00000382895;ENST00000382888|ENST00000514329	D;D;D;D;D|.	0.94457|.	-3.43;-3.43;-3.43;-3.43;-3.43|.	5.77|5.77	3.74|3.74	0.42951|0.42951	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, FYVE/PHD-type (1);|.	0.225631|.	0.30920|.	N|.	0.008602|.	T|T	0.57621|0.57621	0.2066|0.2066	L|L	0.50333|0.50333	1.59|1.59	0.53688|0.53688	D|D	0.999974|0.999974	B;B|.	0.14438|.	0.003;0.01|.	B;B|.	0.09377|.	0.004;0.003|.	T|T	0.51108|0.51108	-0.8747|-0.8747	10|5	0.31617|.	T|.	0.26|.	.|.	9.2788|9.2788	0.37716|0.37716	0.2043:0.0:0.7957:0.0|0.2043:0.0:0.7957:0.0	.|.	175;827|.	A2A2T2;O96028|.	.;NSD2_HUMAN|.	T|H	827;827;827;827;175|150	ENSP00000423972:A827T;ENSP00000372347:A827T;ENSP00000372348:A827T;ENSP00000372351:A827T;ENSP00000372344:A175T|.	ENSP00000372344:A175T|.	A|R	+|+	1|2	0|0	WHSC1|WHSC1	1926826|1926826	0.166000|0.166000	0.22962|0.22962	0.240000|0.240000	0.24138|0.24138	0.947000|0.947000	0.59692|0.59692	1.626000|1.626000	0.37039|0.37039	0.550000|0.550000	0.28991|0.28991	0.655000|0.655000	0.94253|0.94253	GCC|CGC		0.612	WHSC1-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366269.2	NM_133330		11	16	0	0	0	1	0	11	16					A	1957028	G	A	1957028	3	1	435	1	0	0	0	0	1	0	0	0	17359	1087	38	1	2601	1	WHSC1	4	1957028	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	38383	1957028	189197248	2209	23134											
WHSC1	7468	broad.mit.edu	37	chr4	1957835	1957835	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttattactggacgcatcaggCgcgagtgttcccgtacatgg	8	11	12	10	4	1	0	1	0	0	0	2	2	2	1	1	3	2	3	1	3	3	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:1957835C>T	ENST00000382895.3	+	17	3232	c.2801C>T	c.(2800-2802)gCg>gTg	p.A934V	WHSC1_ENST00000382891.5_Missense_Mutation_p.A934V|WHSC1_ENST00000508803.1_Missense_Mutation_p.A934V|WHSC1_ENST00000382888.3_Missense_Mutation_p.A282V|WHSC1_ENST00000482415.2_3'UTR|WHSC1_ENST00000382892.2_Missense_Mutation_p.A934V	NM_133330.2	NP_579877.1	O96028	NSD2_HUMAN	Wolf-Hirschhorn syndrome candidate 1	934	PWWP 2. {ECO:0000255|PROSITE- ProRule:PRU00162}.				anatomical structure morphogenesis (GO:0009653)|atrial septum primum morphogenesis (GO:0003289)|atrial septum secundum morphogenesis (GO:0003290)|bone development (GO:0060348)|membranous septum morphogenesis (GO:0003149)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	48		all_epithelial(65;1.34e-05)	OV - Ovarian serous cystadenocarcinoma(23;0.00606)	STAD - Stomach adenocarcinoma(129;0.232)		ACGCATCAGGCGCGAGTGTTC	0.493			T	IGH@	MM																																	ENST00000382895.3				Dom	yes		4	4p16.3	7468	T	Wolf-Hirschhorn syndrome candidate 1(MMSET)			L	IGH@		MM		0				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	48						c.(2800-2802)gCg>gTg		Wolf-Hirschhorn syndrome candidate 1							112	133	126					4																	1957835		2203	4300	6503	SO:0001583	missense	7468				anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|cytoplasm|nuclear membrane|nucleolus	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding	g.chr4:1957835C>T	AF083386	CCDS3356.1, CCDS33940.1, CCDS46999.1	4p16.3	2013-05-20			ENSG00000109685	ENSG00000109685		"Zinc fingers, PHD-type"	12766	protein-coding gene	gene with protein product		602952				9618163, 9787135	Standard	NM_133334		Approved	MMSET, NSD2	uc003gdz.4	O96028	OTTHUMG00000121147	ENST00000382895.3:c.2801C>T	4.37:g.1957835C>T	ENSP00000372351:p.Ala934Val					WHSC1_ENST00000508803.1_Missense_Mutation_p.A934V|WHSC1_ENST00000382891.5_Missense_Mutation_p.A934V|WHSC1_ENST00000382892.2_Missense_Mutation_p.A934V|WHSC1_ENST00000482415.2_3'UTR|WHSC1_ENST00000382888.3_Missense_Mutation_p.A282V	p.A934V	NM_133330.2	NP_579877.1	O96028	NSD2_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.00606)	STAD - Stomach adenocarcinoma(129;0.232)	17	3232	+		all_epithelial(65;1.34e-05)	934			PWWP 2.		A2A2T2|A2A2T3|A2A2T4|A7MCZ1|D3DVQ2|O96031|Q4VBY8|Q672J1|Q6IS00|Q86V01|Q9BZB4|Q9UI92|Q9UPR2	Missense_Mutation	SNP	ENST00000382895.3	37	c.2801C>T	CCDS33940.1	.	.	.	.	.	.	.	.	.	.	C	31	5.085893	0.94100	.	.	ENSG00000109685	ENST00000508803;ENST00000382891;ENST00000382892;ENST00000382895;ENST00000382888	T;T;T;T;T	0.30448	1.53;1.53;1.53;1.53;1.53	5.76	5.76	0.90799	PWWP (3);	0.000000	0.64402	D	0.000020	T	0.56587	0.1995	M	0.68317	2.08	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.71870	0.947;0.975	T	0.56402	-0.7985	10	0.72032	D	0.01	.	19.9813	0.97326	0.0:1.0:0.0:0.0	.	282;934	A2A2T2;O96028	.;NSD2_HUMAN	V	934;934;934;934;282	ENSP00000423972:A934V;ENSP00000372347:A934V;ENSP00000372348:A934V;ENSP00000372351:A934V;ENSP00000372344:A282V	ENSP00000372344:A282V	A	+	2	0	WHSC1	1927633	1.000000	0.71417	0.998000	0.56505	0.992000	0.81027	4.185000	0.58330	2.726000	0.93360	0.655000	0.94253	GCG		0.493	WHSC1-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366269.2	NM_133330		86	104	0	0	0	1	0	86	104					T	1957835	C	T	1957835	3	4	435	1	0	0	0	0	1	0	0	0	17359	768	27	1	2931	1	WHSC1	4	1957835	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	807	1957835	189196441	2210	23135											
WHSC1	7468	broad.mit.edu	37	chr4	1961236	1961236	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaagtccagatctacacagcGgatatttcagaaatccctaa	16	9	6	10	1	2	2	1	0	1	2	4	3	4	3	2	1	2	0	2	1	5	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:1961236G>A	ENST00000382895.3	+	19	3455	c.3024G>A	c.(3022-3024)gcG>gcA	p.A1008A	WHSC1_ENST00000382891.5_Silent_p.A1008A|WHSC1_ENST00000508803.1_Silent_p.A1008A|WHSC1_ENST00000382888.3_Silent_p.A356A|WHSC1_ENST00000482415.2_3'UTR|WHSC1_ENST00000382892.2_Silent_p.A1008A	NM_133330.2	NP_579877.1	O96028	NSD2_HUMAN	Wolf-Hirschhorn syndrome candidate 1	1008					anatomical structure morphogenesis (GO:0009653)|atrial septum primum morphogenesis (GO:0003289)|atrial septum secundum morphogenesis (GO:0003290)|bone development (GO:0060348)|membranous septum morphogenesis (GO:0003149)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	48		all_epithelial(65;1.34e-05)	OV - Ovarian serous cystadenocarcinoma(23;0.00606)	STAD - Stomach adenocarcinoma(129;0.232)		TCTACACAGCGGATATTTCAG	0.488			T	IGH@	MM																																	ENST00000382895.3				Dom	yes		4	4p16.3	7468	T	Wolf-Hirschhorn syndrome candidate 1(MMSET)			L	IGH@		MM		0				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	48						c.(3022-3024)gcG>gcA		Wolf-Hirschhorn syndrome candidate 1							67	59	61					4																	1961236		2203	4300	6503	SO:0001819	synonymous_variant	7468				anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|cytoplasm|nuclear membrane|nucleolus	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding	g.chr4:1961236G>A	AF083386	CCDS3356.1, CCDS33940.1, CCDS46999.1	4p16.3	2013-05-20			ENSG00000109685	ENSG00000109685		"Zinc fingers, PHD-type"	12766	protein-coding gene	gene with protein product		602952				9618163, 9787135	Standard	NM_133334		Approved	MMSET, NSD2	uc003gdz.4	O96028	OTTHUMG00000121147	ENST00000382895.3:c.3024G>A	4.37:g.1961236G>A						WHSC1_ENST00000508803.1_Silent_p.A1008A|WHSC1_ENST00000382891.5_Silent_p.A1008A|WHSC1_ENST00000382892.2_Silent_p.A1008A|WHSC1_ENST00000482415.2_3'UTR|WHSC1_ENST00000382888.3_Silent_p.A356A	p.A1008A	NM_133330.2	NP_579877.1	O96028	NSD2_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.00606)	STAD - Stomach adenocarcinoma(129;0.232)	19	3455	+		all_epithelial(65;1.34e-05)	1008					A2A2T2|A2A2T3|A2A2T4|A7MCZ1|D3DVQ2|O96031|Q4VBY8|Q672J1|Q6IS00|Q86V01|Q9BZB4|Q9UI92|Q9UPR2	Silent	SNP	ENST00000382895.3	37	c.3024G>A	CCDS33940.1																																																																																				0.488	WHSC1-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366269.2	NM_133330		17	19	0	0	0	1	0	17	19					A	1961236	G	A	1961236	2	1	435	1	0	0	0	0	0	0	0	1	17359	1103	39	2		2	WHSC1	4	1961236	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	3401	1961236	189193040	2211	23136											
WHSC1	7468	broad.mit.edu	37	chr4	1976605	1976605	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tacaggaccgtataatagacGctggccccaaaggaaactac	15	6	9	11	2	0	1	0	0	0	1	0	3	0	3	3	3	3	2	3	3	7	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:1976605G>A	ENST00000382895.3	+	21	3819	c.3388G>A	c.(3388-3390)Gct>Act	p.A1130T	WHSC1_ENST00000382891.5_Missense_Mutation_p.A1130T|WHSC1_ENST00000508803.1_Missense_Mutation_p.A1130T|WHSC1_ENST00000382888.3_Missense_Mutation_p.A478T|WHSC1_ENST00000482415.2_3'UTR|SCARNA22_ENST00000503991.1_RNA|WHSC1_ENST00000382892.2_Missense_Mutation_p.A1130T	NM_133330.2	NP_579877.1	O96028	NSD2_HUMAN	Wolf-Hirschhorn syndrome candidate 1	1130	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				anatomical structure morphogenesis (GO:0009653)|atrial septum primum morphogenesis (GO:0003289)|atrial septum secundum morphogenesis (GO:0003290)|bone development (GO:0060348)|membranous septum morphogenesis (GO:0003149)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	48		all_epithelial(65;1.34e-05)	OV - Ovarian serous cystadenocarcinoma(23;0.00606)	STAD - Stomach adenocarcinoma(129;0.232)		TATAATAGACGCTGGCCCCAA	0.448			T	IGH@	MM																																	ENST00000382895.3				Dom	yes		4	4p16.3	7468	T	Wolf-Hirschhorn syndrome candidate 1(MMSET)			L	IGH@		MM		0				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	48						c.(3388-3390)Gct>Act		Wolf-Hirschhorn syndrome candidate 1							114	115	115					4																	1976605		2203	4300	6503	SO:0001583	missense	7468				anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|cytoplasm|nuclear membrane|nucleolus	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding	g.chr4:1976605G>A	AF083386	CCDS3356.1, CCDS33940.1, CCDS46999.1	4p16.3	2013-05-20			ENSG00000109685	ENSG00000109685		"Zinc fingers, PHD-type"	12766	protein-coding gene	gene with protein product		602952				9618163, 9787135	Standard	NM_133334		Approved	MMSET, NSD2	uc003gdz.4	O96028	OTTHUMG00000121147	ENST00000382895.3:c.3388G>A	4.37:g.1976605G>A	ENSP00000372351:p.Ala1130Thr					WHSC1_ENST00000508803.1_Missense_Mutation_p.A1130T|WHSC1_ENST00000382891.5_Missense_Mutation_p.A1130T|WHSC1_ENST00000382892.2_Missense_Mutation_p.A1130T|WHSC1_ENST00000482415.2_3'UTR|WHSC1_ENST00000382888.3_Missense_Mutation_p.A478T	p.A1130T	NM_133330.2	NP_579877.1	O96028	NSD2_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.00606)	STAD - Stomach adenocarcinoma(129;0.232)	21	3819	+		all_epithelial(65;1.34e-05)	1130			SET.		A2A2T2|A2A2T3|A2A2T4|A7MCZ1|D3DVQ2|O96031|Q4VBY8|Q672J1|Q6IS00|Q86V01|Q9BZB4|Q9UI92|Q9UPR2	Missense_Mutation	SNP	ENST00000382895.3	37	c.3388G>A	CCDS33940.1	.	.	.	.	.	.	.	.	.	.	G	29.1	4.973124	0.92919	.	.	ENSG00000109685	ENST00000508803;ENST00000382891;ENST00000382892;ENST00000382895;ENST00000382888	D;D;D;D;D	0.93811	-3.29;-3.29;-3.29;-3.29;-3.29	4.96	4.96	0.65561	SET domain (3);	0.000000	0.52532	D	0.000077	D	0.98074	0.9365	H	0.97365	3.99	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.99441	1.0938	10	0.87932	D	0	.	18.3824	0.90455	0.0:0.0:1.0:0.0	.	478;1130	A2A2T2;O96028	.;NSD2_HUMAN	T	1130;1130;1130;1130;478	ENSP00000423972:A1130T;ENSP00000372347:A1130T;ENSP00000372348:A1130T;ENSP00000372351:A1130T;ENSP00000372344:A478T	ENSP00000372344:A478T	A	+	1	0	WHSC1	1946403	1.000000	0.71417	0.980000	0.43619	0.704000	0.40688	9.575000	0.98187	2.587000	0.87381	0.467000	0.42956	GCT		0.448	WHSC1-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366269.2	NM_133330		6	72	0	0	0	1	0	6	72					A	1976605	G	A	1976605	3	1	435	1	0	0	0	0	1	0	0	0	17359	1087	38	1	3534	1	WHSC1	4	1976605	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	15369	1976605	189177671	2212	23137											
WHSC1	7468	broad.mit.edu	37	chr4	1976680	1976680	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgagaccctcaagtggacaGtgaatggggacactcgtgtg	10	8	15	8	1	1	2	1	2	0	1	2	5	1	4	1	3	0	0	1	3	2	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:1976680G>A	ENST00000382895.3	+	21	3894	c.3463G>A	c.(3463-3465)Gtg>Atg	p.V1155M	WHSC1_ENST00000382891.5_Missense_Mutation_p.V1155M|WHSC1_ENST00000508803.1_Missense_Mutation_p.V1155M|WHSC1_ENST00000382888.3_Missense_Mutation_p.V503M|WHSC1_ENST00000482415.2_3'UTR|SCARNA22_ENST00000503991.1_RNA|WHSC1_ENST00000382892.2_Missense_Mutation_p.V1155M	NM_133330.2	NP_579877.1	O96028	NSD2_HUMAN	Wolf-Hirschhorn syndrome candidate 1	1155	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				anatomical structure morphogenesis (GO:0009653)|atrial septum primum morphogenesis (GO:0003289)|atrial septum secundum morphogenesis (GO:0003290)|bone development (GO:0060348)|membranous septum morphogenesis (GO:0003149)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	48		all_epithelial(65;1.34e-05)	OV - Ovarian serous cystadenocarcinoma(23;0.00606)	STAD - Stomach adenocarcinoma(129;0.232)		CAAGTGGACAGTGAATGGGGA	0.557			T	IGH@	MM																																	ENST00000382895.3				Dom	yes		4	4p16.3	7468	T	Wolf-Hirschhorn syndrome candidate 1(MMSET)			L	IGH@		MM		0				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	48						c.(3463-3465)Gtg>Atg		Wolf-Hirschhorn syndrome candidate 1							135	138	137					4																	1976680		2203	4300	6503	SO:0001583	missense	7468				anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|cytoplasm|nuclear membrane|nucleolus	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding	g.chr4:1976680G>A	AF083386	CCDS3356.1, CCDS33940.1, CCDS46999.1	4p16.3	2013-05-20			ENSG00000109685	ENSG00000109685		"Zinc fingers, PHD-type"	12766	protein-coding gene	gene with protein product		602952				9618163, 9787135	Standard	NM_133334		Approved	MMSET, NSD2	uc003gdz.4	O96028	OTTHUMG00000121147	ENST00000382895.3:c.3463G>A	4.37:g.1976680G>A	ENSP00000372351:p.Val1155Met					WHSC1_ENST00000508803.1_Missense_Mutation_p.V1155M|WHSC1_ENST00000382891.5_Missense_Mutation_p.V1155M|WHSC1_ENST00000382892.2_Missense_Mutation_p.V1155M|WHSC1_ENST00000482415.2_3'UTR|WHSC1_ENST00000382888.3_Missense_Mutation_p.V503M	p.V1155M	NM_133330.2	NP_579877.1	O96028	NSD2_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.00606)	STAD - Stomach adenocarcinoma(129;0.232)	21	3894	+		all_epithelial(65;1.34e-05)	1155			SET.		A2A2T2|A2A2T3|A2A2T4|A7MCZ1|D3DVQ2|O96031|Q4VBY8|Q672J1|Q6IS00|Q86V01|Q9BZB4|Q9UI92|Q9UPR2	Missense_Mutation	SNP	ENST00000382895.3	37	c.3463G>A	CCDS33940.1	.	.	.	.	.	.	.	.	.	.	G	28.2	4.896685	0.91962	.	.	ENSG00000109685	ENST00000508803;ENST00000382891;ENST00000382892;ENST00000382895;ENST00000382888	D;D;D;D;D	0.91068	-2.78;-2.78;-2.78;-2.78;-2.78	4.77	4.77	0.60923	SET domain (3);	0.000000	0.45606	D	0.000358	D	0.96870	0.8978	H	0.95574	3.69	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.98100	1.0414	10	0.87932	D	0	.	17.9806	0.89140	0.0:0.0:1.0:0.0	.	503;1155	A2A2T2;O96028	.;NSD2_HUMAN	M	1155;1155;1155;1155;503	ENSP00000423972:V1155M;ENSP00000372347:V1155M;ENSP00000372348:V1155M;ENSP00000372351:V1155M;ENSP00000372344:V503M	ENSP00000372344:V503M	V	+	1	0	WHSC1	1946478	1.000000	0.71417	0.992000	0.48379	0.980000	0.70556	9.575000	0.98187	2.484000	0.83849	0.467000	0.42956	GTG		0.557	WHSC1-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366269.2	NM_133330		15	81	0	0	0	1	0	15	81					A	1976680	G	A	1976680	3	1	435	1	0	0	0	0	1	0	0	0	17359	1029	36	3	3609	3	WHSC1	4	1976680	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	75	1976680	189177596	2213	23138											
NAT8L	339983	broad.mit.edu	37	chr4	2065672	2065672	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgtggtgcacaactactccGcggtggtgctgggcacgacg	6	7	15	13	5	0	0	0	0	0	0	1	1	1	0	2	4	4	3	2	4	2	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:2065672G>A	ENST00000423729.2	+	3	727	c.727G>A	c.(727-729)Gcg>Acg	p.A243T	NAT8L_ENST00000331662.3_Missense_Mutation_p.A75T	NM_178557.3	NP_848652.2	Q8N9F0	NAT8L_HUMAN	N-acetyltransferase 8-like (GCN5-related, putative)	243	N-acetyltransferase. {ECO:0000255|PROSITE-ProRule:PRU00532}.				metabolic process (GO:0008152)|positive regulation of dopamine uptake involved in synaptic transmission (GO:0051586)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|mitochondrial membrane (GO:0031966)	aspartate N-acetyltransferase activity (GO:0017188)			haematopoietic_and_lymphoid_tissue(1)|lung(1)	2			OV - Ovarian serous cystadenocarcinoma(23;0.0315)			CAACTACTCCGCGGTGGTGCT	0.657																																						ENST00000423729.2																			0				haematopoietic_and_lymphoid_tissue(1)|lung(1)	2						c.(727-729)Gcg>Acg		N-acetyltransferase 8-like (GCN5-related, putative)							56	47	50					4																	2065672		2198	4300	6498	SO:0001583	missense	339983					integral to membrane|microsome|mitochondrial membrane|rough endoplasmic reticulum membrane	aspartate N-acetyltransferase activity	g.chr4:2065672G>A	AK094797	CCDS3359.1, CCDS3359.2	4p16.3	2011-11-16	2008-09-24		ENSG00000185818	ENSG00000185818			26742	protein-coding gene	gene with protein product		610647	"N-acetyltransferase 8-like"			11397015	Standard	NM_178557		Approved	FLJ37478, Hcml3	uc003geq.2	Q8N9F0	OTTHUMG00000121151	ENST00000423729.2:c.727G>A	4.37:g.2065672G>A	ENSP00000413064:p.Ala243Thr					NAT8L_ENST00000331662.3_Missense_Mutation_p.A75T	p.A243T	NM_178557.3	NP_848652.2	Q8N9F0	NAT8L_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.0315)		3	727	+			243			N-acetyltransferase.			Missense_Mutation	SNP	ENST00000423729.2	37	c.727G>A	CCDS3359.2	.	.	.	.	.	.	.	.	.	.	G	16.62	3.174814	0.57692	.	.	ENSG00000185818	ENST00000423729;ENST00000331662	T;T	0.22539	1.95;1.95	5.39	4.46	0.54185	GCN5-related N-acetyltransferase (GNAT) domain (2);Acyl-CoA N-acyltransferase (2);	0.324872	0.28583	U	0.014829	T	0.13072	0.0317	L	0.31207	0.915	0.46521	D	0.999081	P	0.44627	0.839	B	0.36719	0.231	T	0.08513	-1.0718	10	0.14656	T	0.56	-15.2049	12.7544	0.57325	0.0:0.0:0.7234:0.2766	.	243	Q8N9F0	NAT8L_HUMAN	T	243;75	ENSP00000413064:A243T;ENSP00000328464:A75T	ENSP00000328464:A75T	A	+	1	0	NAT8L	2035470	0.998000	0.40836	0.141000	0.22245	0.707000	0.40811	2.748000	0.47483	2.526000	0.85167	0.457000	0.33378	GCG		0.657	NAT8L-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_178557		12	16	0	0	0	1	0	12	16					A	2065672	G	A	2065672	3	1	435	1	0	0	0	0	1	0	0	0	10181	1087	38	1	737	1	NAT8L	4	2065672	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	88992	2065672	189088604	2214	23139											
HAUS3	79441	broad.mit.edu	37	chr4	2240481	2240481	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttcaagttgacgatatatgTcccgatgctttcttaattca	10	17	6	8	2	3	1	2	1	1	0	4	3	4	1	1	0	1	2	1	0	4	7			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:2240481T>A	ENST00000243706.4	-	3	1428	c.1199A>T	c.(1198-1200)gAc>gTc	p.D400V	HAUS3_ENST00000506763.1_Missense_Mutation_p.D400V|POLN_ENST00000511885.2_Intron|HAUS3_ENST00000443786.2_Missense_Mutation_p.D400V|POLN_ENST00000515357.1_Intron	NM_024511.5	NP_078787.2	Q68CZ6	HAUS3_HUMAN	HAUS augmin-like complex, subunit 3	400					centrosome organization (GO:0051297)|mitotic nuclear division (GO:0007067)|spindle assembly (GO:0051225)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|HAUS complex (GO:0070652)|microtubule (GO:0005874)				breast(3)|endometrium(1)|large_intestine(7)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						ACGATATATGTCCCGATGCTT	0.303																																						ENST00000243706.4																			0				breast(3)|endometrium(1)|large_intestine(7)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						c.(1198-1200)gAc>gTc		HAUS augmin-like complex, subunit 3							97	101	100					4																	2240481		2202	4299	6501	SO:0001583	missense	79441				cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|spindle		g.chr4:2240481T>A	AF040964	CCDS33941.1	4p16.3	2013-10-11	2009-04-20	2009-04-20	ENSG00000214367	ENSG00000214367		"HAUS augmin-like complex subunits"	28719	protein-coding gene	gene with protein product		613430	"chromosome 4 open reading frame 15"	C4orf15		19427217, 19812674	Standard	NM_024511		Approved	MGC4701, IT1, dgt3	uc003ges.1	Q68CZ6		ENST00000243706.4:c.1199A>T	4.37:g.2240481T>A	ENSP00000243706:p.Asp400Val					HAUS3_ENST00000506763.1_Missense_Mutation_p.D400V|POLN_ENST00000511885.2_Intron|HAUS3_ENST00000443786.2_Missense_Mutation_p.D400V|POLN_ENST00000515357.1_Intron	p.D400V	NM_024511.5	NP_078787.2	Q68CZ6	HAUS3_HUMAN			3	1428	-			400					B4DF64|O43606|Q8TAZ5|Q9BTJ9	Missense_Mutation	SNP	ENST00000243706.4	37	c.1199A>T	CCDS33941.1	.	.	.	.	.	.	.	.	.	.	T	11.83	1.756534	0.31137	.	.	ENSG00000214367	ENST00000506763;ENST00000243706;ENST00000443786	T;T	0.47177	0.85;0.85	5.87	4.69	0.59074	.	0.601605	0.16514	U	0.211131	T	0.46927	0.1418	M	0.69823	2.125	0.53688	D	0.999979	P;P	0.35348	0.496;0.496	B;B	0.36134	0.218;0.218	T	0.48811	-0.9002	10	0.87932	D	0	-47.201	7.2858	0.26337	0.0:0.0733:0.1448:0.7819	.	400;400	B4DF64;Q68CZ6	.;HAUS3_HUMAN	V	400	ENSP00000243706:D400V;ENSP00000392903:D400V	ENSP00000243706:D400V	D	-	2	0	HAUS3	2210279	0.990000	0.36364	0.875000	0.34327	0.397000	0.30659	3.072000	0.50049	1.037000	0.40024	0.482000	0.46254	GAC		0.303	HAUS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357446.1	NM_024511		21	23	0	0	0	1	0	21	23					A	2240481	T	A	2240481	3	1	435	1	0	0	0	0	1	0	0	0	6967	1667	58	5	624	5	HAUS3	4	2240481	Missense_Mutation	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	174809	2240481	188913795	2215	23140											
HAUS3	79441	broad.mit.edu	37	chr4	2242668	2242668	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tccacaaactcatttccacaActcatggttttaactacccc	12	12	2	15	0	2	0	2	0	0	0	4	0	4	0	4	1	4	1	4	1	4	4	rs528681699		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:2242668A>G	ENST00000243706.4	-	2	235	c.6T>C	c.(4-6)agT>agC	p.S2S	HAUS3_ENST00000506763.1_Silent_p.S2S|POLN_ENST00000511885.2_Intron|HAUS3_ENST00000443786.2_Silent_p.S2S|POLN_ENST00000515357.1_Intron	NM_024511.5	NP_078787.2	Q68CZ6	HAUS3_HUMAN	HAUS augmin-like complex, subunit 3	2					centrosome organization (GO:0051297)|mitotic nuclear division (GO:0007067)|spindle assembly (GO:0051225)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|HAUS complex (GO:0070652)|microtubule (GO:0005874)				breast(3)|endometrium(1)|large_intestine(7)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						CATTTCCACAACTCATGGTTT	0.333																																						ENST00000243706.4																			0				breast(3)|endometrium(1)|large_intestine(7)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						c.(4-6)agT>agC		HAUS augmin-like complex, subunit 3							47	49	49					4																	2242668		2202	4299	6501	SO:0001819	synonymous_variant	79441				cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|spindle		g.chr4:2242668A>G	AF040964	CCDS33941.1	4p16.3	2013-10-11	2009-04-20	2009-04-20	ENSG00000214367	ENSG00000214367		"HAUS augmin-like complex subunits"	28719	protein-coding gene	gene with protein product		613430	"chromosome 4 open reading frame 15"	C4orf15		19427217, 19812674	Standard	NM_024511		Approved	MGC4701, IT1, dgt3	uc003ges.1	Q68CZ6		ENST00000243706.4:c.6T>C	4.37:g.2242668A>G						HAUS3_ENST00000506763.1_Silent_p.S2S|POLN_ENST00000511885.2_Intron|HAUS3_ENST00000443786.2_Silent_p.S2S|POLN_ENST00000515357.1_Intron	p.S2S	NM_024511.5	NP_078787.2	Q68CZ6	HAUS3_HUMAN			2	235	-			2					B4DF64|O43606|Q8TAZ5|Q9BTJ9	Silent	SNP	ENST00000243706.4	37	c.6T>C	CCDS33941.1																																																																																				0.333	HAUS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357446.1	NM_024511		30	36	0	0	0	1	0	30	36					G	2242668	A	G	2242668	2	3	435	1	0	0	0	0	0	0	0	1	6967	40	2	4		4	HAUS3	4	2242668	Silent	SNP	A	TCGA-XK-AAIW-01A-11D-A41K-08	2187	2242668	188911608	2216	23141											
ZFYVE28	57732	broad.mit.edu	37	chr4	2306040	2306040	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcccgacagggcctgaggcGcctcgtgagccgaggggctc	6	4	17	14	4	0	2	0	2	0	0	2	4	0	2	4	4	2	1	4	4	0	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:2306040G>A	ENST00000290974.2	-	8	2366	c.2027C>T	c.(2026-2028)gCg>gTg	p.A676V	ZFYVE28_ENST00000511071.1_Missense_Mutation_p.A646V|ZFYVE28_ENST00000515312.1_Missense_Mutation_p.A606V|RP11-478C1.7_ENST00000510632.1_RNA	NM_020972.2	NP_066023.2	Q9HCC9	LST2_HUMAN	zinc finger, FYVE domain containing 28	676					negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of epidermal growth factor-activated receptor activity (GO:0007175)	cytosol (GO:0005829)|early endosome membrane (GO:0031901)	metal ion binding (GO:0046872)|phosphatidylinositol-3-phosphate binding (GO:0032266)			NS(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(4)	31						GGCCTGAGGCGCCTCGTGAGC	0.662																																						ENST00000290974.2																			0				NS(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(4)	31						c.(2026-2028)gCg>gTg		zinc finger, FYVE domain containing 28							33	38	37					4																	2306040		2200	4290	6490	SO:0001583	missense	57732				negative regulation of epidermal growth factor receptor activity	cytosol|early endosome membrane	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding	g.chr4:2306040G>A	AK126692	CCDS33942.1, CCDS54708.1, CCDS54709.1, CCDS54710.1, CCDS54711.1, CCDS54712.1	4p16.3	2008-05-02			ENSG00000159733	ENSG00000159733		"Zinc fingers, FYVE domain containing"	29334	protein-coding gene	gene with protein product		614176				10997877	Standard	NM_020972		Approved	KIAA1643	uc003gex.2	Q9HCC9	OTTHUMG00000160292	ENST00000290974.2:c.2027C>T	4.37:g.2306040G>A	ENSP00000290974:p.Ala676Val					ZFYVE28_ENST00000511071.1_Missense_Mutation_p.A646V|RP11-478C1.7_ENST00000510632.1_RNA|ZFYVE28_ENST00000515312.1_Missense_Mutation_p.A606V	p.A676V	NM_020972.2	NP_066023.2	Q9HCC9	LST2_HUMAN			8	2366	-			676					B2RP83|B3KX50|B7Z1Q7|B7Z2G9|B7Z2M2|B7ZB19|E9PB54|E9PB64|E9PG77|Q7Z6J3	Missense_Mutation	SNP	ENST00000290974.2	37	c.2027C>T	CCDS33942.1	.	.	.	.	.	.	.	.	.	.	g	5.403	0.259464	0.10239	.	.	ENSG00000159733	ENST00000290974;ENST00000511071;ENST00000515312	T;T;T	0.58506	0.34;0.33;0.34	3.78	-7.56	0.01322	.	1.717730	0.02785	N	0.121401	T	0.34019	0.0883	N	0.22421	0.69	0.09310	N	1	B;B	0.19445	0.036;0.002	B;B	0.12156	0.007;0.001	T	0.10543	-1.0625	10	0.27082	T	0.32	.	1.4752	0.02425	0.3196:0.1647:0.3628:0.1529	.	646;676	Q9HCC9-2;Q9HCC9	.;LST2_HUMAN	V	676;646;606	ENSP00000290974:A676V;ENSP00000425706:A646V;ENSP00000426299:A606V	ENSP00000290974:A676V	A	-	2	0	ZFYVE28	2275838	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.831000	0.01698	-1.956000	0.01022	-4.423000	0.00006	GCG		0.662	ZFYVE28-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000360078.1	XM_035371		20	29	0	0	0	1	0	20	29					A	2306040	G	A	2306040	3	1	435	1	0	0	0	0	1	0	0	0	17667	1087	38	1	660	1	ZFYVE28	4	2306040	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	63372	2306040	188848236	2217	23142											
ZFYVE28	57732	broad.mit.edu	37	chr4	2306602	2306602	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cgcacccacctcccagccgtCcaggtgcagccgcgagtcca	7	4	10	20	4	0	0	0	0	0	0	3	1	3	0	7	1	3	2	7	1	0	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:2306602C>A	ENST00000290974.2	-	8	1804	c.1465G>T	c.(1465-1467)Gac>Tac	p.D489Y	ZFYVE28_ENST00000511071.1_Missense_Mutation_p.D459Y|ZFYVE28_ENST00000515312.1_Missense_Mutation_p.D419Y|RP11-478C1.7_ENST00000510632.1_RNA	NM_020972.2	NP_066023.2	Q9HCC9	LST2_HUMAN	zinc finger, FYVE domain containing 28	489					negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of epidermal growth factor-activated receptor activity (GO:0007175)	cytosol (GO:0005829)|early endosome membrane (GO:0031901)	metal ion binding (GO:0046872)|phosphatidylinositol-3-phosphate binding (GO:0032266)			NS(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(4)	31						TCCCAGCCGTCCAGGTGCAGC	0.652																																						ENST00000290974.2																			0				NS(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(4)	31						c.(1465-1467)Gac>Tac		zinc finger, FYVE domain containing 28							38	39	38					4																	2306602		2136	4195	6331	SO:0001583	missense	57732				negative regulation of epidermal growth factor receptor activity	cytosol|early endosome membrane	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding	g.chr4:2306602C>A	AK126692	CCDS33942.1, CCDS54708.1, CCDS54709.1, CCDS54710.1, CCDS54711.1, CCDS54712.1	4p16.3	2008-05-02			ENSG00000159733	ENSG00000159733		"Zinc fingers, FYVE domain containing"	29334	protein-coding gene	gene with protein product		614176				10997877	Standard	NM_020972		Approved	KIAA1643	uc003gex.2	Q9HCC9	OTTHUMG00000160292	ENST00000290974.2:c.1465G>T	4.37:g.2306602C>A	ENSP00000290974:p.Asp489Tyr					ZFYVE28_ENST00000511071.1_Missense_Mutation_p.D459Y|RP11-478C1.7_ENST00000510632.1_RNA|ZFYVE28_ENST00000515312.1_Missense_Mutation_p.D419Y	p.D489Y	NM_020972.2	NP_066023.2	Q9HCC9	LST2_HUMAN			8	1804	-			489					B2RP83|B3KX50|B7Z1Q7|B7Z2G9|B7Z2M2|B7ZB19|E9PB54|E9PB64|E9PG77|Q7Z6J3	Missense_Mutation	SNP	ENST00000290974.2	37	c.1465G>T	CCDS33942.1	.	.	.	.	.	.	.	.	.	.	C	15.74	2.923839	0.52653	.	.	ENSG00000159733	ENST00000290974;ENST00000511071;ENST00000515312	T;T;T	0.60797	0.18;0.16;0.18	4.28	3.34	0.38264	.	0.169199	0.49916	D	0.000127	T	0.59891	0.2227	L	0.57536	1.79	0.80722	D	1	D;D	0.62365	0.965;0.991	P;P	0.55871	0.748;0.786	T	0.63171	-0.6697	10	0.72032	D	0.01	.	3.9215	0.09245	0.0:0.6862:0.0:0.3138	.	459;489	Q9HCC9-2;Q9HCC9	.;LST2_HUMAN	Y	489;459;419	ENSP00000290974:D489Y;ENSP00000425706:D459Y;ENSP00000426299:D419Y	ENSP00000290974:D489Y	D	-	1	0	ZFYVE28	2276400	1.000000	0.71417	0.934000	0.37439	0.178000	0.23041	4.912000	0.63335	2.221000	0.72209	0.405000	0.27470	GAC		0.652	ZFYVE28-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000360078.1	XM_035371		30	30	1	0	2.85442e-18	1	3.14927e-18	30	30					A	2306602	C	A	2306602	3	1	435	1	0	0	0	0	1	0	0	0	17667	855	30	5	1222	5	ZFYVE28	4	2306602	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	562	2306602	188847674	2218	23143											
ZFYVE28	57732	broad.mit.edu	37	chr4	2307027	2307027	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cccccgccctgtggaccatgCggctgagctgctccagctcc	4	7	11	19	2	0	1	0	1	0	0	2	2	2	2	6	2	4	4	6	2	0	0	rs372107124		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:2307027C>T	ENST00000290974.2	-	8	1379	c.1040G>A	c.(1039-1041)cGc>cAc	p.R347H	ZFYVE28_ENST00000511071.1_Missense_Mutation_p.R317H|ZFYVE28_ENST00000515312.1_Missense_Mutation_p.R277H|RP11-478C1.7_ENST00000510632.1_RNA	NM_020972.2	NP_066023.2	Q9HCC9	LST2_HUMAN	zinc finger, FYVE domain containing 28	347					negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of epidermal growth factor-activated receptor activity (GO:0007175)	cytosol (GO:0005829)|early endosome membrane (GO:0031901)	metal ion binding (GO:0046872)|phosphatidylinositol-3-phosphate binding (GO:0032266)			NS(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(4)	31						GTGGACCATGCGGCTGAGCTG	0.662																																						ENST00000290974.2																			0				NS(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(4)	31						c.(1039-1041)cGc>cAc		zinc finger, FYVE domain containing 28							48	49	49					4																	2307027		2203	4299	6502	SO:0001583	missense	57732				negative regulation of epidermal growth factor receptor activity	cytosol|early endosome membrane	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding	g.chr4:2307027C>T	AK126692	CCDS33942.1, CCDS54708.1, CCDS54709.1, CCDS54710.1, CCDS54711.1, CCDS54712.1	4p16.3	2008-05-02			ENSG00000159733	ENSG00000159733		"Zinc fingers, FYVE domain containing"	29334	protein-coding gene	gene with protein product		614176				10997877	Standard	NM_020972		Approved	KIAA1643	uc003gex.2	Q9HCC9	OTTHUMG00000160292	ENST00000290974.2:c.1040G>A	4.37:g.2307027C>T	ENSP00000290974:p.Arg347His					ZFYVE28_ENST00000511071.1_Missense_Mutation_p.R317H|RP11-478C1.7_ENST00000510632.1_RNA|ZFYVE28_ENST00000515312.1_Missense_Mutation_p.R277H	p.R347H	NM_020972.2	NP_066023.2	Q9HCC9	LST2_HUMAN			8	1379	-			347					B2RP83|B3KX50|B7Z1Q7|B7Z2G9|B7Z2M2|B7ZB19|E9PB54|E9PB64|E9PG77|Q7Z6J3	Missense_Mutation	SNP	ENST00000290974.2	37	c.1040G>A	CCDS33942.1	.	.	.	.	.	.	.	.	.	.	C	18.02	3.530922	0.64972	.	.	ENSG00000159733	ENST00000290974;ENST00000511071;ENST00000515312	T;T;T	0.59502	0.27;0.26;0.26	5.56	4.53	0.55603	.	0.186707	0.53938	D	0.000046	T	0.62048	0.2396	L	0.60455	1.87	0.80722	D	1	D;D	0.63046	0.992;0.99	P;P	0.53861	0.736;0.628	T	0.63202	-0.6690	10	0.52906	T	0.07	.	9.3347	0.38043	0.1471:0.7679:0.0:0.085	.	317;347	Q9HCC9-2;Q9HCC9	.;LST2_HUMAN	H	347;317;277	ENSP00000290974:R347H;ENSP00000425706:R317H;ENSP00000426299:R277H	ENSP00000290974:R347H	R	-	2	0	ZFYVE28	2276825	1.000000	0.71417	1.000000	0.80357	0.443000	0.32047	3.427000	0.52785	2.634000	0.89283	0.537000	0.68136	CGC		0.662	ZFYVE28-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000360078.1	XM_035371		14	20	0	0	0	1	0	14	20					T	2307027	C	T	2307027	3	4	435	1	0	0	0	0	1	0	0	0	17667	768	27	1	1647	1	ZFYVE28	4	2307027	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	425	2307027	188847249	2219	23144											
FAM193A	8603	broad.mit.edu	37	chr4	2691278	2691278	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	atcacacaaataagcatcagGtattcaatgcatctcttcaa	16	11	4	10	0	5	0	4	0	1	0	6	0	5	0	0	1	2	3	0	1	5	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:2691278G>A	ENST00000324666.5	+	12	1855	c.1504G>A	c.(1504-1506)Gta>Ata	p.V502I	FAM193A_ENST00000502458.1_Missense_Mutation_p.V524I|FAM193A_ENST00000505311.1_Missense_Mutation_p.V502I|FAM193A_ENST00000382839.3_Missense_Mutation_p.V502I|FAM193A_ENST00000545951.1_Missense_Mutation_p.V502I	NM_001256666.1	NP_001243595.1	P78312	F193A_HUMAN	family with sequence similarity 193, member A	502										NS(2)|breast(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(12)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	40						TAAGCATCAGGTATTCAATGC	0.348																																						ENST00000324666.5																			0				NS(2)|breast(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(12)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	40						c.(1504-1506)Gta>Ata		family with sequence similarity 193, member A							99	95	96					4																	2691278		2203	4300	6503	SO:0001583	missense	8603							g.chr4:2691278G>A	AB000459	CCDS33943.1, CCDS58874.1, CCDS58875.1, CCDS58876.1	4p16.3	2009-09-04	2009-09-04	2009-09-04					16822	protein-coding gene	gene with protein product			"chromosome 4 open reading frame 8"	C4orf8		9734812	Standard	NR_046335		Approved	RES4-22	uc010ick.3	P78312		ENST00000324666.5:c.1504G>A	4.37:g.2691278G>A	ENSP00000324587:p.Val502Ile					FAM193A_ENST00000505311.1_Missense_Mutation_p.V502I|FAM193A_ENST00000502458.1_Missense_Mutation_p.V524I|FAM193A_ENST00000545951.1_Missense_Mutation_p.V502I|FAM193A_ENST00000382839.3_Missense_Mutation_p.V502I	p.V502I	NM_001256666.1	NP_001243595.1	P78312	F193A_HUMAN			12	1855	+			502					B7ZM85|B9EGR0|E9PFA1|O43607|P78311|P78313|Q9UEG8	Missense_Mutation	SNP	ENST00000324666.5	37	c.1504G>A	CCDS58875.1	.	.	.	.	.	.	.	.	.	.	G	17.87	3.495511	0.64186	.	.	ENSG00000125386	ENST00000382839;ENST00000324666;ENST00000545951;ENST00000502458;ENST00000513350	T;T;T;T;T	0.24908	1.83;1.83;1.83;1.83;1.83	5.38	5.38	0.77491	.	0.119417	0.56097	D	0.000028	T	0.27489	0.0675	L	0.47716	1.5	0.35872	D	0.82827	B;P;B;B;B	0.34639	0.373;0.461;0.373;0.189;0.189	B;B;B;B;B	0.34180	0.177;0.145;0.177;0.131;0.131	T	0.25606	-1.0127	10	0.42905	T	0.14	-12.6959	18.1813	0.89779	0.0:0.0:1.0:0.0	.	502;524;502;524;502	B9EGR0;E9PFA1;P78312;B7ZM85;P78312-2	.;.;F193A_HUMAN;.;.	I	502;502;502;524;356	ENSP00000372290:V502I;ENSP00000324587:V502I;ENSP00000443617:V502I;ENSP00000427505:V524I;ENSP00000427260:V356I	ENSP00000324587:V502I	V	+	1	0	FAM193A	2661076	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.655000	0.54460	2.532000	0.85374	0.558000	0.71614	GTA		0.348	FAM193A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000360903.1	NM_003704		40	52	0	0	0	1	0	40	52					A	2691278	G	A	2691278	3	1	435	1	0	0	0	0	1	0	0	0	5524	1261	44	3	1542	3	FAM193A	4	2691278	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	384251	2691278	188462998	2220	23145											
TNIP2	79155	broad.mit.edu	37	chr4	2749522	2749522	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gttggccaaggagcggcacaGgacgtcactggcggcccggg	7	4	18	12	4	1	0	1	0	0	0	1	2	1	2	2	7	1	2	2	7	1	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:2749522G>T	ENST00000315423.7	-	2	513	c.427C>A	c.(427-429)Ctg>Atg	p.L143M	TNIP2_ENST00000503235.1_Missense_Mutation_p.L143M|TNIP2_ENST00000510267.1_Missense_Mutation_p.L36M|TNIP2_ENST00000505186.1_5'Flank	NM_024309.3	NP_077285.3			TNFAIP3 interacting protein 2											breast(2)|central_nervous_system(1)|large_intestine(4)|lung(6)|prostate(1)	14				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		GAGCGGCACAGGACGTCACTG	0.652																																						ENST00000510267.1																			0				breast(2)|central_nervous_system(1)|large_intestine(4)|lung(6)|prostate(1)	14						c.(106-108)Ctg>Atg		TNFAIP3 interacting protein 2							115	111	112					4																	2749522		2203	4300	6503	SO:0001583	missense	79155					cytosol	protein binding	g.chr4:2749522G>T	BC002740	CCDS3362.1, CCDS54714.1, CCDS75093.1	4p16.3	2008-08-01			ENSG00000168884	ENSG00000168884			19118	protein-coding gene	gene with protein product		610669				11390377, 12933576	Standard	NM_024309		Approved	ABIN-2, MGC4289, KLIP, FLIP1	uc003gfg.2	Q8NFZ5	OTTHUMG00000090267	ENST00000315423.7:c.427C>A	4.37:g.2749522G>T	ENSP00000321203:p.Leu143Met					TNIP2_ENST00000315423.7_Missense_Mutation_p.L143M|TNIP2_ENST00000503235.1_Missense_Mutation_p.L143M	p.L36M	NM_001161527.1	NP_001154999.1	Q8NFZ5	TNIP2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.168)	2	533	-			143						Missense_Mutation	SNP	ENST00000315423.7	37	c.106C>A	CCDS3362.1	.	.	.	.	.	.	.	.	.	.	g	20.4	3.988420	0.74589	.	.	ENSG00000168884	ENST00000510267;ENST00000315423;ENST00000503235	T;T;T	0.70631	-0.5;1.82;1.82	3.81	3.81	0.43845	.	0.000000	0.64402	D	0.000006	D	0.82513	0.5053	M	0.81341	2.54	0.42395	D	0.992541	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.997	D	0.83983	0.0333	10	0.54805	T	0.06	-18.7251	10.998	0.47589	0.0966:0.0:0.9033:0.0	.	143;143	D6RGJ2;Q8NFZ5	.;TNIP2_HUMAN	M	36;143;143	ENSP00000427613:L36M;ENSP00000321203:L143M;ENSP00000426314:L143M	ENSP00000321203:L143M	L	-	1	2	TNIP2	2719320	1.000000	0.71417	0.913000	0.36048	0.763000	0.43281	6.680000	0.74518	2.143000	0.66587	0.550000	0.68814	CTG		0.652	TNIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206589.5	NM_024309		53	67	1	0	1.57914e-17	1	1.73871e-17	53	67					T	2749522	G	T	2749522	3	4	435	1	0	0	0	0	1	0	0	0	16312	991	35	5	882	5	TNIP2	4	2749522	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	58244	2749522	188404754	2221	23146											
SH3BP2	6452	broad.mit.edu	37	chr4	2826453	2826453	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggcctcctccgaggaggagcGcaaggtgactgggggtccga	7	5	18	11	3	0	1	0	1	0	0	3	5	3	3	4	6	1	1	4	6	1	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:2826453G>A	ENST00000356331.5	+	4	614	c.353G>A	c.(352-354)cGc>cAc	p.R118H	SH3BP2_ENST00000435136.2_Missense_Mutation_p.R118H|SH3BP2_ENST00000511747.1_Missense_Mutation_p.R118H|SH3BP2_ENST00000442312.2_Missense_Mutation_p.R146H|SH3BP2_ENST00000503393.2_Missense_Mutation_p.R175H|SH3BP2_ENST00000515183.1_3'UTR|SH3BP2_ENST00000452765.2_Missense_Mutation_p.R118H	NM_003023.4	NP_003014.3	P78314	3BP2_HUMAN	SH3-domain binding protein 2	118	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				positive regulation of signal transduction (GO:0009967)|signal transduction (GO:0007165)		SH3/SH2 adaptor activity (GO:0005070)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	20				UCEC - Uterine corpus endometrioid carcinoma (64;0.164)		GAGGAGGAGCGCAAGGTGACT	0.632									Cherubism																													ENST00000356331.5																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	20						c.(352-354)cGc>cAc		SH3-domain binding protein 2							62	58	59					4																	2826453		2203	4300	6503	SO:0001583	missense	6452	Cherubism	Familial Cancer Database	Familial Benign Giant-cell Tumor of the Jaw, Familial Multilocular Cystic Disease	signal transduction		SH3 domain binding|SH3/SH2 adaptor activity	g.chr4:2826453G>A	BC022996	CCDS33944.1, CCDS54715.1, CCDS54716.1	4p16.3	2013-02-14				ENSG00000087266		"Pleckstrin homology (PH) domain containing", "SH2 domain containing"	10825	protein-coding gene	gene with protein product		602104	"Cherubism"			9299232, 11381256	Standard	NM_003023		Approved	RES4-23, CRBM	uc003gfj.4	P78314		ENST00000356331.5:c.353G>A	4.37:g.2826453G>A	ENSP00000348685:p.Arg118His					SH3BP2_ENST00000515183.1_3'UTR|SH3BP2_ENST00000442312.2_Missense_Mutation_p.R146H|SH3BP2_ENST00000452765.2_Missense_Mutation_p.R118H|SH3BP2_ENST00000503393.2_Missense_Mutation_p.R175H|SH3BP2_ENST00000511747.1_Missense_Mutation_p.R118H|SH3BP2_ENST00000435136.2_Missense_Mutation_p.R118H	p.R118H	NM_003023.4	NP_003014.3	P78314	3BP2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.164)	4	614	+			118			PH.		A6NNC2|B2R5R6|B4DT04|D3DVR0|D6R919|O00500|O15373|P78315	Missense_Mutation	SNP	ENST00000356331.5	37	c.353G>A	CCDS33944.1	.	.	.	.	.	.	.	.	.	.	g	22.5	4.297313	0.81025	.	.	ENSG00000087266	ENST00000452765;ENST00000503219;ENST00000504294;ENST00000508385;ENST00000512014;ENST00000513095;ENST00000442312;ENST00000502260;ENST00000435136;ENST00000511747;ENST00000503393;ENST00000356331	T;T;T;T;T;T;T;T;T;T;T;T	0.13901	2.55;2.55;2.55;2.55;2.55;2.55;2.55;2.55;2.55;2.55;2.55;2.55	4.56	4.56	0.56223	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.051104	0.64402	D	0.000001	T	0.40272	0.1110	M	0.77313	2.365	0.80722	D	1	P;D;D;D	0.89917	0.93;1.0;0.993;0.972	P;D;P;P	0.85130	0.81;0.997;0.609;0.786	T	0.40117	-0.9580	10	0.66056	D	0.02	-21.0204	17.335	0.87277	0.0:0.0:1.0:0.0	.	146;146;175;118	B4DT04;B7Z9B6;D6R919;P78314	.;.;.;3BP2_HUMAN	H	118;118;118;118;118;118;146;118;118;118;175;118	ENSP00000409746:R118H;ENSP00000422796:R118H;ENSP00000423275:R118H;ENSP00000424917:R118H;ENSP00000424105:R118H;ENSP00000423823:R118H;ENSP00000388152:R146H;ENSP00000425537:R118H;ENSP00000403231:R118H;ENSP00000424846:R118H;ENSP00000422168:R175H;ENSP00000348685:R118H	ENSP00000348685:R118H	R	+	2	0	SH3BP2	2796251	1.000000	0.71417	1.000000	0.80357	0.908000	0.53690	8.813000	0.91963	2.266000	0.75297	0.645000	0.84053	CGC		0.632	SH3BP2-007	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000362406.2	NM_003023		14	19	0	0	0	1	0	14	19					A	2826453	G	A	2826453	3	1	435	1	0	0	0	0	1	0	0	0	14245	1087	38	1	622	1	SH3BP2	4	2826453	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	76931	2826453	188327823	2222	23147											
SH3BP2	6452	broad.mit.edu	37	chr4	2831831	2831831	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgaggccatggcgcggcccGcagtcctgcccaggccagag	6	4	15	16	3	0	2	0	1	0	1	1	2	1	2	5	4	1	1	5	4	0	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:2831831G>A	ENST00000356331.5	+	8	1459	c.1198G>A	c.(1198-1200)Gca>Aca	p.A400T	SH3BP2_ENST00000435136.2_Missense_Mutation_p.A400T|SH3BP2_ENST00000511747.1_Missense_Mutation_p.A400T|SH3BP2_ENST00000442312.2_Missense_Mutation_p.A428T|SH3BP2_ENST00000503393.2_Missense_Mutation_p.A457T|SH3BP2_ENST00000452765.2_Missense_Mutation_p.A400T	NM_003023.4	NP_003014.3	P78314	3BP2_HUMAN	SH3-domain binding protein 2	400					positive regulation of signal transduction (GO:0009967)|signal transduction (GO:0007165)		SH3/SH2 adaptor activity (GO:0005070)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	20				UCEC - Uterine corpus endometrioid carcinoma (64;0.164)		GGCGCGGCCCGCAGTCCTGCC	0.711									Cherubism																													ENST00000356331.5																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	20						c.(1198-1200)Gca>Aca		SH3-domain binding protein 2							16	17	16					4																	2831831		2099	4118	6217	SO:0001583	missense	6452	Cherubism	Familial Cancer Database	Familial Benign Giant-cell Tumor of the Jaw, Familial Multilocular Cystic Disease	signal transduction		SH3 domain binding|SH3/SH2 adaptor activity	g.chr4:2831831G>A	BC022996	CCDS33944.1, CCDS54715.1, CCDS54716.1	4p16.3	2013-02-14				ENSG00000087266		"Pleckstrin homology (PH) domain containing", "SH2 domain containing"	10825	protein-coding gene	gene with protein product		602104	"Cherubism"			9299232, 11381256	Standard	NM_003023		Approved	RES4-23, CRBM	uc003gfj.4	P78314		ENST00000356331.5:c.1198G>A	4.37:g.2831831G>A	ENSP00000348685:p.Ala400Thr					SH3BP2_ENST00000442312.2_Missense_Mutation_p.A428T|SH3BP2_ENST00000452765.2_Missense_Mutation_p.A400T|SH3BP2_ENST00000503393.2_Missense_Mutation_p.A457T|SH3BP2_ENST00000511747.1_Missense_Mutation_p.A400T|SH3BP2_ENST00000435136.2_Missense_Mutation_p.A400T	p.A400T	NM_003023.4	NP_003014.3	P78314	3BP2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.164)	8	1459	+			400					A6NNC2|B2R5R6|B4DT04|D3DVR0|D6R919|O00500|O15373|P78315	Missense_Mutation	SNP	ENST00000356331.5	37	c.1198G>A	CCDS33944.1	.	.	.	.	.	.	.	.	.	.	G	1.401	-0.578019	0.03854	.	.	ENSG00000087266	ENST00000452765;ENST00000442312;ENST00000435136;ENST00000511747;ENST00000503393;ENST00000356331	D;D;D;D;D;D	0.96168	-3.93;-3.93;-3.93;-3.93;-3.93;-3.93	3.96	-3.65	0.04502	.	1.895370	0.02371	N	0.077879	D	0.89188	0.6644	L	0.51422	1.61	0.09310	N	1	B;B;P;B;B	0.37141	0.002;0.287;0.584;0.004;0.0	B;B;B;B;B	0.25884	0.001;0.009;0.064;0.001;0.001	T	0.81243	-0.1021	10	0.16420	T	0.52	-0.0075	1.0725	0.01624	0.3175:0.2367:0.3115:0.1343	.	428;375;375;457;400	B4DT04;Q6ZVU3;Q6ZTK4;D6R919;P78314	.;.;.;.;3BP2_HUMAN	T	400;428;400;400;457;400	ENSP00000409746:A400T;ENSP00000388152:A428T;ENSP00000403231:A400T;ENSP00000424846:A400T;ENSP00000422168:A457T;ENSP00000348685:A400T	ENSP00000348685:A400T	A	+	1	0	SH3BP2	2801629	0.000000	0.05858	0.000000	0.03702	0.015000	0.08874	-0.197000	0.09518	-0.925000	0.03775	-1.136000	0.01936	GCA		0.711	SH3BP2-007	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000362406.2	NM_003023		5	17	0	0	0	1	0	5	17					A	2831831	G	A	2831831	3	1	435	1	0	0	0	0	1	0	0	0	14245	1087	38	1	1483	1	SH3BP2	4	2831831	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	5378	2831831	188322445	2223	23148											
HTT	3064	broad.mit.edu	37	chr4	3134559	3134559	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggaaatacattttctttggCggattgcattcctttgctgc	8	16	9	8	1	1	0	0	0	1	0	2	2	2	2	1	3	4	2	1	3	2	7	rs140979048	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:3134559C>T	ENST00000355072.5	+	18	2559	c.2414C>T	c.(2413-2415)gCg>gTg	p.A805V		NM_002111.6	NP_002102	P42858	HD_HUMAN	huntingtin	805					anterior/posterior pattern specification (GO:0009952)|axon cargo transport (GO:0008088)|cell aging (GO:0007569)|citrulline metabolic process (GO:0000052)|determination of adult lifespan (GO:0008340)|dopamine receptor signaling pathway (GO:0007212)|endoplasmic reticulum organization (GO:0007029)|endosomal transport (GO:0016197)|ER to Golgi vesicle-mediated transport (GO:0006888)|establishment of mitotic spindle orientation (GO:0000132)|Golgi organization (GO:0007030)|grooming behavior (GO:0007625)|hormone metabolic process (GO:0042445)|insulin secretion (GO:0030073)|iron ion homeostasis (GO:0055072)|L-glutamate import (GO:0051938)|lactate biosynthetic process from pyruvate (GO:0019244)|locomotory behavior (GO:0007626)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of neuron apoptotic process (GO:0043524)|neural plate formation (GO:0021990)|neuron apoptotic process (GO:0051402)|neuron development (GO:0048666)|olfactory lobe development (GO:0021988)|organ development (GO:0048513)|paraxial mesoderm formation (GO:0048341)|positive regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031587)|protein import into nucleus (GO:0006606)|quinolinate biosynthetic process (GO:0019805)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of protein phosphatase type 2A activity (GO:0034047)|regulation of synaptic plasticity (GO:0048167)|response to calcium ion (GO:0051592)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|social behavior (GO:0035176)|spermatogenesis (GO:0007283)|striatum development (GO:0021756)|urea cycle (GO:0000050)|vesicle transport along microtubule (GO:0047496)|visual learning (GO:0008542)	autophagic vacuole (GO:0005776)|axon (GO:0030424)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|inclusion body (GO:0016234)|late endosome (GO:0005770)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein complex (GO:0043234)	beta-tubulin binding (GO:0048487)|diazepam binding (GO:0050809)|dynactin binding (GO:0034452)|dynein intermediate chain binding (GO:0045505)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|p53 binding (GO:0002039)|transcription factor binding (GO:0008134)			breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		TTTTCTTTGGCGGATTGCATT	0.383													C|||	2	0.000399361	8e-04	0	5008	,	,		21808	0.001		0	False		,,,				2504	0					ENST00000355072.5																			0				breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87						c.(2413-2415)gCg>gTg		huntingtin							282	246	257					4																	3134559		1920	4137	6057	SO:0001583	missense	3064				establishment of mitotic spindle orientation|Golgi organization|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule	autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|Golgi apparatus|late endosome|membrane fraction|nucleus|protein complex	beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding	g.chr4:3134559C>T	L12392	CCDS43206.1	4p16.3	2014-09-17	2007-12-04	2007-12-04	ENSG00000197386	ENSG00000197386		"Endogenous ligands"	4851	protein-coding gene	gene with protein product		613004	"huntingtin (Huntington disease)"	HD		8458085	Standard	NM_002111		Approved	IT15	uc021xkv.1	P42858	OTTHUMG00000159916	ENST00000355072.5:c.2414C>T	4.37:g.3134559C>T	ENSP00000347184:p.Ala805Val						p.A805V	NM_002111.6	NP_002102.4	P42858	HD_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)	18	2559	+		all_epithelial(65;0.18)	805					Q9UQB7	Missense_Mutation	SNP	ENST00000355072.5	37	c.2414C>T	CCDS43206.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	11.41	1.631534	0.29068	.	.	ENSG00000197386	ENST00000355072	T	0.65549	-0.16	4.88	-3.95	0.04118	Armadillo-like helical (1);Armadillo-type fold (1);	0.871262	0.10314	N	0.689612	T	0.24928	0.0605	N	0.01267	-0.92	0.09310	N	0.999993	B	0.06786	0.001	B	0.04013	0.001	T	0.16041	-1.0416	10	0.27082	T	0.32	.	4.7139	0.12886	0.1157:0.1334:0.1154:0.6355	.	805	P42858	HD_HUMAN	V	805	ENSP00000347184:A805V	ENSP00000347184:A805V	A	+	2	0	HTT	3104357	0.752000	0.28338	0.738000	0.30950	0.821000	0.46438	-0.207000	0.09384	-0.729000	0.04875	-0.182000	0.12963	GCG		0.383	HTT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358234.2	NM_002111		46	82	0	0	0	1	0	46	82					T	3134559	C	T	3134559	3	4	435	1	0	0	0	0	1	0	0	0	7457	768	27	1	2484	1	HTT	4	3134559	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	302728	3134559	188019717	2224	23149											
HTT	3064	broad.mit.edu	37	chr4	3210609	3210609	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgctggacggggatgggcacGtgtcactggaaacagtgagt	9	7	17	8	3	1	1	1	1	0	0	1	4	1	4	0	5	1	2	0	5	1	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:3210609G>A	ENST00000355072.5	+	46	6407	c.6262G>A	c.(6262-6264)Gtg>Atg	p.V2088M		NM_002111.6	NP_002102	P42858	HD_HUMAN	huntingtin	2088					anterior/posterior pattern specification (GO:0009952)|axon cargo transport (GO:0008088)|cell aging (GO:0007569)|citrulline metabolic process (GO:0000052)|determination of adult lifespan (GO:0008340)|dopamine receptor signaling pathway (GO:0007212)|endoplasmic reticulum organization (GO:0007029)|endosomal transport (GO:0016197)|ER to Golgi vesicle-mediated transport (GO:0006888)|establishment of mitotic spindle orientation (GO:0000132)|Golgi organization (GO:0007030)|grooming behavior (GO:0007625)|hormone metabolic process (GO:0042445)|insulin secretion (GO:0030073)|iron ion homeostasis (GO:0055072)|L-glutamate import (GO:0051938)|lactate biosynthetic process from pyruvate (GO:0019244)|locomotory behavior (GO:0007626)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of neuron apoptotic process (GO:0043524)|neural plate formation (GO:0021990)|neuron apoptotic process (GO:0051402)|neuron development (GO:0048666)|olfactory lobe development (GO:0021988)|organ development (GO:0048513)|paraxial mesoderm formation (GO:0048341)|positive regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031587)|protein import into nucleus (GO:0006606)|quinolinate biosynthetic process (GO:0019805)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of protein phosphatase type 2A activity (GO:0034047)|regulation of synaptic plasticity (GO:0048167)|response to calcium ion (GO:0051592)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|social behavior (GO:0035176)|spermatogenesis (GO:0007283)|striatum development (GO:0021756)|urea cycle (GO:0000050)|vesicle transport along microtubule (GO:0047496)|visual learning (GO:0008542)	autophagic vacuole (GO:0005776)|axon (GO:0030424)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|inclusion body (GO:0016234)|late endosome (GO:0005770)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein complex (GO:0043234)	beta-tubulin binding (GO:0048487)|diazepam binding (GO:0050809)|dynactin binding (GO:0034452)|dynein intermediate chain binding (GO:0045505)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|p53 binding (GO:0002039)|transcription factor binding (GO:0008134)	p.V2088M(1)		breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		GGATGGGCACGTGTCACTGGA	0.577																																						ENST00000355072.5																			1	Substitution - Missense(1)	p.V2088M(1)	kidney(1)	breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87						c.(6262-6264)Gtg>Atg		huntingtin							59	60	60					4																	3210609		2102	4217	6319	SO:0001583	missense	3064				establishment of mitotic spindle orientation|Golgi organization|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule	autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|Golgi apparatus|late endosome|membrane fraction|nucleus|protein complex	beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding	g.chr4:3210609G>A	L12392	CCDS43206.1	4p16.3	2014-09-17	2007-12-04	2007-12-04	ENSG00000197386	ENSG00000197386		"Endogenous ligands"	4851	protein-coding gene	gene with protein product		613004	"huntingtin (Huntington disease)"	HD		8458085	Standard	NM_002111		Approved	IT15	uc021xkv.1	P42858	OTTHUMG00000159916	ENST00000355072.5:c.6262G>A	4.37:g.3210609G>A	ENSP00000347184:p.Val2088Met						p.V2088M	NM_002111.6	NP_002102.4	P42858	HD_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)	46	6407	+		all_epithelial(65;0.18)	2088					Q9UQB7	Missense_Mutation	SNP	ENST00000355072.5	37	c.6262G>A	CCDS43206.1	.	.	.	.	.	.	.	.	.	.	G	11.15	1.553088	0.27739	.	.	ENSG00000197386	ENST00000355072	T	0.05199	3.48	6.07	-4.14	0.03892	.	0.489229	0.22887	N	0.054436	T	0.02230	0.0069	N	0.08118	0	0.09310	N	1	B	0.12630	0.006	B	0.06405	0.002	T	0.34825	-0.9813	10	0.36615	T	0.2	.	3.4879	0.07626	0.1168:0.3657:0.3346:0.1829	.	2088	P42858	HD_HUMAN	M	2088	ENSP00000347184:V2088M	ENSP00000347184:V2088M	V	+	1	0	HTT	3180407	0.000000	0.05858	0.000000	0.03702	0.442000	0.32017	-0.099000	0.11007	-0.441000	0.07201	0.655000	0.94253	GTG		0.577	HTT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358234.2	NM_002111		5	25	0	0	0	1	0	5	25					A	3210609	G	A	3210609	3	1	435	1	0	0	0	0	1	0	0	0	7457	1145	40	1	6444	1	HTT	4	3210609	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	76050	3210609	187943667	2225	23150											
RGS12	6002	broad.mit.edu	37	chr4	3430395	3430395	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagaatctattgcaaagatTgggaaaaaaaaatatcagaa	22	8	8	3	0	2	3	1	0	1	3	2	5	2	4	0	1	1	1	0	1	10	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:3430395T>C	ENST00000344733.5	+	16	4426	c.3522T>C	c.(3520-3522)atT>atC	p.I1174I	RGS12_ENST00000538395.1_Intron|RGS12_ENST00000336727.3_Silent_p.I1174I|RGS12_ENST00000306648.7_Intron|RGS12_ENST00000338806.4_Silent_p.I526I|RGS12_ENST00000382788.3_Silent_p.I1174I	NM_198229.2	NP_937872.1	O14924	RGS12_HUMAN	regulator of G-protein signaling 12	1174					positive regulation of GTPase activity (GO:0043547)|regulation of catalytic activity (GO:0050790)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|transcription, DNA-templated (GO:0006351)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|GTPase regulator activity (GO:0030695)|receptor signaling protein activity (GO:0005057)			autonomic_ganglia(1)|breast(4)|endometrium(3)|kidney(2)|large_intestine(9)|lung(16)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		TTGCAAAGATTGGGAAAAAAA	0.333																																						ENST00000336727.3																			0				autonomic_ganglia(1)|breast(4)|endometrium(3)|kidney(2)|large_intestine(9)|lung(16)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						c.(3520-3522)atT>atC		regulator of G-protein signaling 12							45	51	49					4																	3430395		2201	4300	6501	SO:0001819	synonymous_variant	6002					condensed nuclear chromosome|cytoplasm|plasma membrane	GTPase activator activity|receptor signaling protein activity	g.chr4:3430395T>C	AF035152	CCDS3366.1, CCDS3367.1, CCDS3368.1	4p16.3	2008-02-05	2007-08-14		ENSG00000159788	ENSG00000159788		"Regulators of G-protein signaling"	9994	protein-coding gene	gene with protein product		602512	"regulator of G-protein signalling 12"			9651375	Standard	NM_198229		Approved		uc003ggw.3	O14924	OTTHUMG00000090277	ENST00000344733.5:c.3522T>C	4.37:g.3430395T>C						RGS12_ENST00000344733.5_Silent_p.I1174I|RGS12_ENST00000382788.3_Silent_p.I1174I|RGS12_ENST00000338806.4_Silent_p.I526I|RGS12_ENST00000538395.1_Intron|RGS12_ENST00000306648.7_Intron	p.I1174I	NM_002926.3	NP_002917.1	O14924	RGS12_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.168)	16	4426	+			1174					B1AQ30|B1AQ31|B1AQ32|B7Z764|E7EMN9|O14922|O14923|O43510|O75338|Q147X0|Q8WX95	Silent	SNP	ENST00000344733.5	37	c.3522T>C	CCDS3366.1																																																																																				0.333	RGS12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206602.1	NM_002926		25	31	0	0	0	1	0	25	31					C	3430395	T	C	3430395	2	2	435	1	0	0	0	0	0	0	0	1	13295	1800	63	4		4	RGS12	4	3430395	Silent	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	219786	3430395	187723881	2226	23151											
HGFAC	3083	broad.mit.edu	37	chr4	3446574	3446574	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gagcgctgcttcttggggaaCggcactgggtaccgtggcgt	5	9	17	10	4	1	0	0	0	1	0	1	2	1	1	1	5	4	4	1	5	2	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:3446574C>T	ENST00000382774.3	+	8	985	c.870C>T	c.(868-870)aaC>aaT	p.N290N	HGFAC_ENST00000511533.1_Silent_p.N290N	NM_001528.2	NP_001519.1	Q04756	HGFA_HUMAN	HGF activator	290	Kringle. {ECO:0000255|PROSITE- ProRule:PRU00121}.				proteolysis (GO:0006508)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|rough endoplasmic reticulum (GO:0005791)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			central_nervous_system(3)|cervix(1)|endometrium(4)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	22				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)		TCTTGGGGAACGGCACTGGGT	0.711																																						ENST00000382774.3																			0				central_nervous_system(3)|cervix(1)|endometrium(4)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	22						c.(868-870)aaC>aaT		HGF activator							16	20	18					4																	3446574		2195	4289	6484	SO:0001819	synonymous_variant	3083				proteolysis	extracellular space	protein binding|serine-type endopeptidase activity	g.chr4:3446574C>T	D14012	CCDS3369.1, CCDS75098.1	4p16	2008-02-07			ENSG00000109758	ENSG00000109758	3.4.21.-		4894	protein-coding gene	gene with protein product		604552				7683665, 8226803	Standard	XM_005247966		Approved	HGFAP, HGFA	uc003ghc.3	Q04756	OTTHUMG00000090281	ENST00000382774.3:c.870C>T	4.37:g.3446574C>T						HGFAC_ENST00000511533.1_Silent_p.N290N	p.N290N	NM_001528.2	NP_001519.1	Q04756	HGFA_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.163)	8	985	+			290			Kringle.		Q14726|Q2M1W7|Q53X47	Silent	SNP	ENST00000382774.3	37	c.870C>T	CCDS3369.1																																																																																				0.711	HGFAC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206607.3			3	1	0	0	0	1	0	3	1					T	3446574	C	T	3446574	2	4	435	1	0	0	0	0	0	0	0	1	7086	535	19	1		1	HGFAC	4	3446574	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	16179	3446574	187707702	2227	23152											
ADRA2C	152	broad.mit.edu	37	chr4	3768676	3768676	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cgttggccaacgagctcatgGcctactggtacttcgggcag	7	9	13	12	3	1	0	1	0	0	0	2	1	1	0	2	4	4	4	2	4	3	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:3768676G>A	ENST00000330055.5	+	1	552	c.343G>A	c.(343-345)Gcc>Acc	p.A115T	ADRA2C_ENST00000509482.1_Missense_Mutation_p.A115T	NM_000683.3	NP_000674.2	P18825	ADA2C_HUMAN	adrenoceptor alpha 2C	115					activation of MAPK activity by adrenergic receptor signaling pathway (GO:0071883)|activation of protein kinase B activity (GO:0032148)|blood coagulation (GO:0007596)|cell-cell signaling (GO:0007267)|energy reserve metabolic process (GO:0006112)|epidermal growth factor-activated receptor transactivation by G-protein coupled receptor signaling pathway (GO:0035625)|female pregnancy (GO:0007565)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of epinephrine secretion (GO:0032811)|negative regulation of norepinephrine secretion (GO:0010700)|negative regulation of uterine smooth muscle contraction (GO:0070473)|platelet activation (GO:0030168)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of vasoconstriction (GO:0045907)|regulation of insulin secretion (GO:0050796)|regulation of sensory perception of pain (GO:0051930)|small molecule metabolic process (GO:0044281)	axon terminus (GO:0043679)|cytoplasm (GO:0005737)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	alpha-2A adrenergic receptor binding (GO:0031694)|alpha2-adrenergic receptor activity (GO:0004938)|epinephrine binding (GO:0051379)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	8				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)	Amoxapine(DB00543)|Amphetamine(DB00182)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bethanidine(DB00217)|Brimonidine(DB00484)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Clonidine(DB00575)|Clozapine(DB00363)|Desipramine(DB01151)|Doxepin(DB01142)|Dronedarone(DB04855)|Droxidopa(DB06262)|Ephedra(DB01363)|Epinephrine(DB00668)|Ergoloid mesylate(DB01049)|Fenoldopam(DB00800)|Iloperidone(DB04946)|Lisuride(DB00589)|Loxapine(DB00408)|Lurasidone(DB08815)|Maprotiline(DB00934)|Mephentermine(DB01365)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Mirtazapine(DB00370)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxymetazoline(DB00935)|Paliperidone(DB01267)|Pergolide(DB01186)|Phenoxybenzamine(DB00925)|Pramipexole(DB00413)|Quetiapine(DB01224)|Risperidone(DB00734)|Ropinirole(DB00268)|Tizanidine(DB00697)|Tolazoline(DB00797)|Xylometazoline(DB06694)|Yohimbine(DB01392)|Ziprasidone(DB00246)	CGAGCTCATGGCCTACTGGTA	0.632																																					Esophageal Squamous(12;454 628 4517 14479)	ENST00000330055.5																			0				endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	8						c.(343-345)Gcc>Acc		adrenoceptor alpha 2C	Bethanidine(DB00217)|Brimonidine(DB00484)|Debrisoquin(DB04840)|Fenoldopam(DB00800)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Lofexidine(DB04948)|Norepinephrine(DB00368)|Yohimbine(DB01392)						66	67	67					4																	3768676		2201	4300	6501	SO:0001583	missense	152				activation of MAPK activity by adrenergic receptor signaling pathway|activation of protein kinase B activity|blood coagulation|cell-cell signaling|energy reserve metabolic process|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|negative regulation of epinephrine secretion|negative regulation of norepinephrine secretion|positive regulation of neuron differentiation|regulation of insulin secretion	endosome|integral to plasma membrane	alpha-2A adrenergic receptor binding|alpha2-adrenergic receptor activity|epinephrine binding|protein heterodimerization activity|protein homodimerization activity	g.chr4:3768676G>A	AY455666	CCDS47004.1	4p16.3	2013-10-22	2012-05-09		ENSG00000184160	ENSG00000184160		"GPCR / Class A : Adrenoceptors : alpha"	283	protein-coding gene	gene with protein product		104250	"adrenergic, alpha-2C-, receptor"	ADRA2L2, ADRA2RL2		1849485	Standard	NM_000683		Approved	ADRARL2	uc003ghm.3	P18825	OTTHUMG00000159830	ENST00000330055.5:c.343G>A	4.37:g.3768676G>A	ENSP00000386069:p.Ala115Thr					ADRA2C_ENST00000509482.1_Missense_Mutation_p.A115T	p.A115T	NM_000683.3	NP_000674.2	P18825	ADA2C_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.163)	1	552	+			115					P35369|Q9HB49	Missense_Mutation	SNP	ENST00000330055.5	37	c.343G>A	CCDS47004.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.943492	0.73672	.	.	ENSG00000184160	ENST00000509482;ENST00000330055	T;T	0.36878	1.23;1.23	3.08	2.08	0.27032	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.33381	0.0861	N	0.25647	0.755	0.35817	D	0.824276	P;P	0.50272	0.933;0.772	P;P	0.53988	0.739;0.602	T	0.44143	-0.9347	9	0.87932	D	0	.	5.5766	0.17227	0.2566:0.0:0.7434:0.0	.	115;115	D6RGL0;P18825	.;ADA2C_HUMAN	T	115	ENSP00000426268:A115T;ENSP00000386069:A115T	ENSP00000386069:A115T	A	+	1	0	ADRA2C	3738474	1.000000	0.71417	1.000000	0.80357	0.886000	0.51366	3.562000	0.53777	1.558000	0.49541	0.462000	0.41574	GCC		0.632	ADRA2C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357607.1	NM_000683		5	26	0	0	0	1	0	5	26					A	3768676	G	A	3768676	3	1	435	1	0	0	0	0	1	0	0	0	339	1203	42	3	345	3	ADRA2C	4	3768676	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	322102	3768676	187385600	2228	23153											
ADRA2C	152	broad.mit.edu	37	chr4	3769056	3769056	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgagtggccaagctgcgcacGcgcacgctcagcgagaagcg	9	3	15	14	7	1	1	1	0	0	1	1	3	1	1	1	1	4	4	1	1	2	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:3769056G>A	ENST00000330055.5	+	1	932	c.723G>A	c.(721-723)acG>acA	p.T241T	ADRA2C_ENST00000509482.1_Silent_p.T241T	NM_000683.3	NP_000674.2	P18825	ADA2C_HUMAN	adrenoceptor alpha 2C	241					activation of MAPK activity by adrenergic receptor signaling pathway (GO:0071883)|activation of protein kinase B activity (GO:0032148)|blood coagulation (GO:0007596)|cell-cell signaling (GO:0007267)|energy reserve metabolic process (GO:0006112)|epidermal growth factor-activated receptor transactivation by G-protein coupled receptor signaling pathway (GO:0035625)|female pregnancy (GO:0007565)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of epinephrine secretion (GO:0032811)|negative regulation of norepinephrine secretion (GO:0010700)|negative regulation of uterine smooth muscle contraction (GO:0070473)|platelet activation (GO:0030168)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of vasoconstriction (GO:0045907)|regulation of insulin secretion (GO:0050796)|regulation of sensory perception of pain (GO:0051930)|small molecule metabolic process (GO:0044281)	axon terminus (GO:0043679)|cytoplasm (GO:0005737)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	alpha-2A adrenergic receptor binding (GO:0031694)|alpha2-adrenergic receptor activity (GO:0004938)|epinephrine binding (GO:0051379)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	8				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)	Amoxapine(DB00543)|Amphetamine(DB00182)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bethanidine(DB00217)|Brimonidine(DB00484)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Clonidine(DB00575)|Clozapine(DB00363)|Desipramine(DB01151)|Doxepin(DB01142)|Dronedarone(DB04855)|Droxidopa(DB06262)|Ephedra(DB01363)|Epinephrine(DB00668)|Ergoloid mesylate(DB01049)|Fenoldopam(DB00800)|Iloperidone(DB04946)|Lisuride(DB00589)|Loxapine(DB00408)|Lurasidone(DB08815)|Maprotiline(DB00934)|Mephentermine(DB01365)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Mirtazapine(DB00370)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxymetazoline(DB00935)|Paliperidone(DB01267)|Pergolide(DB01186)|Phenoxybenzamine(DB00925)|Pramipexole(DB00413)|Quetiapine(DB01224)|Risperidone(DB00734)|Ropinirole(DB00268)|Tizanidine(DB00697)|Tolazoline(DB00797)|Xylometazoline(DB06694)|Yohimbine(DB01392)|Ziprasidone(DB00246)	AGCTGCGCACGCGCACGCTCA	0.706																																					Esophageal Squamous(12;454 628 4517 14479)	ENST00000330055.5																			0				endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	8						c.(721-723)acG>acA		adrenoceptor alpha 2C	Bethanidine(DB00217)|Brimonidine(DB00484)|Debrisoquin(DB04840)|Fenoldopam(DB00800)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Lofexidine(DB04948)|Norepinephrine(DB00368)|Yohimbine(DB01392)						11	12	12					4																	3769056		2090	4196	6286	SO:0001819	synonymous_variant	152				activation of MAPK activity by adrenergic receptor signaling pathway|activation of protein kinase B activity|blood coagulation|cell-cell signaling|energy reserve metabolic process|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|negative regulation of epinephrine secretion|negative regulation of norepinephrine secretion|positive regulation of neuron differentiation|regulation of insulin secretion	endosome|integral to plasma membrane	alpha-2A adrenergic receptor binding|alpha2-adrenergic receptor activity|epinephrine binding|protein heterodimerization activity|protein homodimerization activity	g.chr4:3769056G>A	AY455666	CCDS47004.1	4p16.3	2013-10-22	2012-05-09		ENSG00000184160	ENSG00000184160		"GPCR / Class A : Adrenoceptors : alpha"	283	protein-coding gene	gene with protein product		104250	"adrenergic, alpha-2C-, receptor"	ADRA2L2, ADRA2RL2		1849485	Standard	NM_000683		Approved	ADRARL2	uc003ghm.3	P18825	OTTHUMG00000159830	ENST00000330055.5:c.723G>A	4.37:g.3769056G>A						ADRA2C_ENST00000509482.1_Silent_p.T241T	p.T241T	NM_000683.3	NP_000674.2	P18825	ADA2C_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.163)	1	932	+			241					P35369|Q9HB49	Silent	SNP	ENST00000330055.5	37	c.723G>A	CCDS47004.1																																																																																				0.706	ADRA2C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357607.1	NM_000683		3	6	0	0	0	1	0	3	6					A	3769056	G	A	3769056	2	1	435	1	0	0	0	0	0	0	0	1	339	1074	38	1		1	ADRA2C	4	3769056	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	380	3769056	187385220	2229	23154											
OTOP1	133060	broad.mit.edu	37	chr4	4228245	4228245	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcggaagaggcggcggtgcGcggagctgcggcccacgtac	6	3	20	12	7	0	1	0	0	0	1	0	3	0	3	1	7	4	2	1	7	2	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:4228245G>A	ENST00000296358.4	-	1	371	c.347C>T	c.(346-348)gCg>gTg	p.A116V		NM_177998.1	NP_819056.1	Q7RTM1	OTOP1_HUMAN	otopetrin 1	116					biomineral tissue development (GO:0031214)|detection of gravity (GO:0009590)|inner ear morphogenesis (GO:0042472)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)				NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|liver(4)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		GCGGCGGTGCGCGGAGCTGCG	0.731																																						ENST00000296358.4																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|liver(4)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34						c.(346-348)gCg>gTg		otopetrin 1							5	6	5					4																	4228245		1837	3738	5575	SO:0001583	missense	133060				biomineral tissue development	extracellular space|integral to membrane		g.chr4:4228245G>A	BK000653	CCDS3372.1	4p16.2	2008-02-05			ENSG00000163982	ENSG00000163982			19656	protein-coding gene	gene with protein product		607806				12651873	Standard	NM_177998		Approved		uc003ghp.1	Q7RTM1	OTTHUMG00000090301	ENST00000296358.4:c.347C>T	4.37:g.4228245G>A	ENSP00000296358:p.Ala116Val						p.A116V	NM_177998.1	NP_819056.1	Q7RTM1	OTOP1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.168)	1	371	-			116					A1L476	Missense_Mutation	SNP	ENST00000296358.4	37	c.347C>T	CCDS3372.1	.	.	.	.	.	.	.	.	.	.	G	13.42	2.231312	0.39399	.	.	ENSG00000163982	ENST00000296358	T	0.08634	3.07	3.4	2.53	0.30540	.	0.591231	0.15627	U	0.252618	T	0.04679	0.0127	N	0.08118	0	0.09310	N	1	B	0.15719	0.014	B	0.08055	0.003	T	0.37150	-0.9718	10	0.52906	T	0.07	.	9.6422	0.39846	0.107:0.0:0.893:0.0	.	116	Q7RTM1	OTOP1_HUMAN	V	116	ENSP00000296358:A116V	ENSP00000296358:A116V	A	-	2	0	OTOP1	4279146	0.999000	0.42202	0.995000	0.50966	0.917000	0.54804	2.919000	0.48836	0.608000	0.30000	0.430000	0.28490	GCG		0.731	OTOP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206661.2	NM_177998		11	9	0	0	0	1	0	11	9					A	4228245	G	A	4228245	3	1	435	1	0	0	0	0	1	0	0	0	11305	1087	38	1	1515	1	OTOP1	4	4228245	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	459189	4228245	186926031	2230	23155											
LYAR	55646	broad.mit.edu	37	chr4	4285407	4285407	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagtttctgcaaacagacacAtgcttttccacttgtatttt	10	16	5	10	0	1	1	0	0	1	1	2	1	2	1	1	0	3	4	1	0	2	7	rs572890068		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:4285407A>G	ENST00000343470.4	-	3	303	c.63T>C	c.(61-63)caT>caC	p.H21H	LYAR_ENST00000452476.1_Silent_p.H21H	NM_017816.2	NP_060286	Q9NX58	LYAR_HUMAN	Ly1 antibody reactive	21				H -> R (in Ref. 3; CAG38579). {ECO:0000305}.		nucleolus (GO:0005730)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			endometrium(2)|large_intestine(6)|liver(2)|lung(5)|ovary(1)|prostate(1)	17				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		AAACAGACACATGCTTTTCCA	0.363													A|||	1	0.000199681	0	0	5008	,	,		19417	0.001		0	False		,,,				2504	0					ENST00000343470.4																			0				endometrium(2)|large_intestine(6)|liver(2)|lung(5)|ovary(1)|prostate(1)	17						c.(61-63)caT>caC		Ly1 antibody reactive							112	100	104					4																	4285407		2203	4300	6503	SO:0001819	synonymous_variant	55646					nucleolus	metal ion binding|protein binding	g.chr4:4285407A>G	AL136750	CCDS3374.1	4p16.3	2013-01-10	2012-12-07		ENSG00000145220	ENSG00000145220		"Zinc fingers, C2HC-type containing"	26021	protein-coding gene	gene with protein product			"Ly1 antibody reactive homolog (mouse)"			11230166, 8491376	Standard	NM_001145725		Approved	ZC2HC2, ZLYAR	uc003ght.3	Q9NX58	OTTHUMG00000125477	ENST00000343470.4:c.63T>C	4.37:g.4285407A>G						LYAR_ENST00000452476.1_Silent_p.H21H	p.H21H	NM_017816.2	NP_060286.1	Q9NX58	LYAR_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.168)	3	303	-			21	H -> R (in Ref. 3; CAG38579).				D3DVS4|Q6FI78|Q9NYS1	Silent	SNP	ENST00000343470.4	37	c.63T>C	CCDS3374.1																																																																																				0.363	LYAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246800.2	NM_017816		15	20	0	0	0	1	0	15	20					G	4285407	A	G	4285407	2	3	435	1	0	0	0	0	0	0	0	1	9103	214	8	4		4	LYAR	4	4285407	Silent	SNP	A	TCGA-XK-AAIW-01A-11D-A41K-08	57162	4285407	186868869	2231	23156											
D4S234E	27065	broad.mit.edu	37	chr4	4411342	4411342	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctggccttcctcacctgcGtcgtcttcctggttgtctac	2	14	8	17	2	3	0	1	0	2	0	6	0	5	0	5	2	2	1	5	2	1	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:4411342G>A	ENST00000421177.2	+	8	2280	c.289G>A	c.(289-291)Gtc>Atc	p.V97I	NSG1_ENST00000505246.1_Missense_Mutation_p.V97I|NSG1_ENST00000397958.1_Missense_Mutation_p.V97I|NSG1_ENST00000433139.2_Missense_Mutation_p.V97I|NSG1_ENST00000504171.1_Missense_Mutation_p.V58I|NSG1_ENST00000513555.1_Missense_Mutation_p.V97I|NSG1_ENST00000506380.1_Missense_Mutation_p.V97I			P42857	NSG1_HUMAN		97					clathrin coat assembly (GO:0048268)|dopamine receptor signaling pathway (GO:0007212)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)											CCTCACCTGCGTCGTCTTCCT	0.612																																						ENST00000421177.2																			0											c.(289-291)Gtc>Atc									194	149	164					4																	4411342		2203	4300	6503	SO:0001583	missense	0							g.chr4:4411342G>A																												ENST00000421177.2:c.289G>A	4.37:g.4411342G>A	ENSP00000388823:p.Val97Ile					NSG1_ENST00000397958.1_Missense_Mutation_p.V97I|NSG1_ENST00000504171.1_Missense_Mutation_p.V58I|NSG1_ENST00000513555.1_Missense_Mutation_p.V97I|NSG1_ENST00000506380.1_Missense_Mutation_p.V97I|NSG1_ENST00000433139.2_Missense_Mutation_p.V97I|NSG1_ENST00000505246.1_Missense_Mutation_p.V97I	p.V97I							8	2280	+								B4DXC5|Q49AQ1	Missense_Mutation	SNP	ENST00000421177.2	37	c.289G>A	CCDS3376.1	.	.	.	.	.	.	.	.	.	.	G	10.86	1.469122	0.26423	.	.	ENSG00000168824	ENST00000421177;ENST00000513555;ENST00000505246;ENST00000506380;ENST00000397958;ENST00000433139;ENST00000504171	.	.	.	4.16	4.16	0.48862	.	0.000000	0.64402	D	0.000003	T	0.42063	0.1186	L	0.35414	1.06	0.49130	D	0.999756	B;B	0.21071	0.031;0.051	B;B	0.15052	0.008;0.012	T	0.24905	-1.0147	9	0.14252	T	0.57	-17.9549	11.2857	0.49220	0.0889:0.0:0.9111:0.0	.	58;97	B4DXC5;P42857	.;NSG1_HUMAN	I	97;97;97;97;97;97;58	.	ENSP00000381049:V97I	V	+	1	0	AC110814.1	4462243	0.999000	0.42202	0.993000	0.49108	0.982000	0.71751	2.789000	0.47813	2.127000	0.65507	0.561000	0.74099	GTC		0.612	NSG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246799.1			13	41	0	0	0	1	0	13	41					A	4411342	G	A	4411342	3	1	435	1	0	0	0	0	1	0	0	0	4214	1145	40	1	299	1	D4S234E	4	4411342	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	125935	4411342	186742934	2232	23157											
MSX1	4487	broad.mit.edu	37	chr4	4864847	4864847	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tctacacggcccatgtgggcTacagcatgtaccacctgaca	10	8	9	14	1	1	1	0	1	1	0	1	1	1	1	3	2	4	3	3	2	3	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:4864847T>C	ENST00000382723.4	+	2	1123	c.889T>C	c.(889-891)Tac>Cac	p.Y297H		NM_002448.3	NP_002439.2	P28360	MSX1_HUMAN	msh homeobox 1	297					activation of meiosis (GO:0090427)|anterior/posterior pattern specification (GO:0009952)|BMP signaling pathway involved in heart development (GO:0061312)|bone morphogenesis (GO:0060349)|cartilage morphogenesis (GO:0060536)|cell morphogenesis (GO:0000902)|cellular response to nicotine (GO:0071316)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic nail plate morphogenesis (GO:0035880)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|face morphogenesis (GO:0060325)|in utero embryonic development (GO:0001701)|mammary gland epithelium development (GO:0061180)|mesenchymal cell proliferation (GO:0010463)|midbrain development (GO:0030901)|middle ear morphogenesis (GO:0042474)|muscle organ development (GO:0007517)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of striated muscle cell differentiation (GO:0051154)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|odontogenesis of dentin-containing tooth (GO:0042475)|palate development (GO:0060021)|pituitary gland development (GO:0021983)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of intrinsic apoptotic signaling pathway by p53 class mediator (GO:1902255)|positive regulation of mesenchymal cell apoptotic process (GO:2001055)|protein localization to nucleus (GO:0034504)|protein stabilization (GO:0050821)|regulation of odontogenesis (GO:0042481)|signal transduction involved in regulation of gene expression (GO:0023019)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	p53 binding (GO:0002039)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity (GO:0000982)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)			endometrium(3)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	11				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)		CCATGTGGGCTACAGCATGTA	0.701																																						ENST00000382723.4																			0				endometrium(3)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	11						c.(889-891)Tac>Cac		msh homeobox 1							10	13	12					4																	4864847		2091	4094	6185	SO:0001583	missense	4487				apoptotic nuclear change|face morphogenesis|negative regulation of cell growth|odontogenesis of dentine-containing tooth|positive regulation of apoptosis|protein localization to nucleus|protein stabilization	nucleus	p53 binding|sequence-specific DNA binding transcription factor activity	g.chr4:4864847T>C	M97676	CCDS3378.2	4p16.2	2011-06-20	2006-11-21		ENSG00000163132	ENSG00000163132		"Homeoboxes / ANTP class : NKL subclass"	7391	protein-coding gene	gene with protein product		142983	"msh (Drosophila) homeo box homolog 1 (formerly homeo box 7)", "msh homeobox homolog 1 (Drosophila)"	HOX7		1685479, 1973146	Standard	NM_002448		Approved	HYD1, OFC5	uc003gif.3	P28360	OTTHUMG00000090335	ENST00000382723.4:c.889T>C	4.37:g.4864847T>C	ENSP00000372170:p.Tyr297His						p.Y297H	NM_002448.3	NP_002439.2	P28360	MSX1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.163)	2	1123	+			291					A0SZU5|A8K3M1|Q96NY4	Missense_Mutation	SNP	ENST00000382723.4	37	c.889T>C	CCDS3378.2	.	.	.	.	.	.	.	.	.	.	T	22.6	4.306523	0.81247	.	.	ENSG00000163132	ENST00000382723	D	0.90844	-2.74	4.81	4.81	0.61882	.	0.000000	0.85682	D	0.000000	D	0.94443	0.8212	M	0.79693	2.465	0.80722	D	1	D	0.89917	1.0	D	0.71870	0.975	D	0.94483	0.7695	10	0.59425	D	0.04	-7.2229	10.8078	0.46529	0.0:0.0773:0.0:0.9227	.	291	P28360	MSX1_HUMAN	H	297	ENSP00000372170:Y297H	ENSP00000372170:Y297H	Y	+	1	0	MSX1	4915748	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	6.127000	0.71642	1.926000	0.55796	0.379000	0.24179	TAC		0.701	MSX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206700.3			5	2	0	0	0	1	0	5	2					C	4864847	T	C	4864847	3	2	435	1	0	0	0	0	1	0	0	0	9895	1522	53	4	895	4	MSX1	4	4864847	Missense_Mutation	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	453505	4864847	186289429	2233	23158											
CYTL1	54360	broad.mit.edu	37	chr4	5016936	5016936	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttgggtattccaaggcattgCagtcatccaacaggaatacc	12	10	9	10	0	1	0	1	0	0	0	3	1	3	1	3	3	3	3	3	3	5	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:5016936C>T	ENST00000307746.4	-	4	379	c.353G>A	c.(352-354)tGc>tAc	p.C118Y		NM_018659.2	NP_061129.1	Q9NRR1	CYTL1_HUMAN	cytokine-like 1	118					cartilage homeostasis (GO:1990079)|chondrocyte differentiation (GO:0002062)|chondroitin sulfate proteoglycan biosynthetic process (GO:0050650)|inner ear development (GO:0048839)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|signal transduction (GO:0007165)	extracellular space (GO:0005615)	receptor binding (GO:0005102)			breast(1)|large_intestine(4)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	11				UCEC - Uterine corpus endometrioid carcinoma (64;0.164)		CAAGGCATTGCAGTCATCCAA	0.478																																					Colon(15;457 478 29696 43408 47165)	ENST00000307746.4																			0				breast(1)|large_intestine(4)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	11						c.(352-354)tGc>tAc		cytokine-like 1							125	107	113					4																	5016936		2203	4300	6503	SO:0001583	missense	54360				signal transduction	extracellular space|soluble fraction	receptor binding	g.chr4:5016936C>T	AF193766	CCDS3379.1	4p16-p15	2007-08-01			ENSG00000170891	ENSG00000170891			24435	protein-coding gene	gene with protein product		607930				10857752	Standard	NM_018659		Approved	C17, C4orf4	uc003gig.3	Q9NRR1	OTTHUMG00000125479	ENST00000307746.4:c.353G>A	4.37:g.5016936C>T	ENSP00000303550:p.Cys118Tyr						p.C118Y	NM_018659.2	NP_061129.1	Q9NRR1	CYTL1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.164)	4	379	-			118						Missense_Mutation	SNP	ENST00000307746.4	37	c.353G>A	CCDS3379.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.78|13.78	2.340700|2.340700	0.41498|0.41498	.|.	.|.	ENSG00000170891|ENSG00000170891	ENST00000509419|ENST00000307746	.|T	.|0.60920	.|0.15	4.46|4.46	4.46|4.46	0.54185|0.54185	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.75547|0.75547	0.3864|0.3864	M|M	0.80183|0.80183	2.485|2.485	0.50039|0.50039	D|D	0.99984|0.99984	.|D	.|0.89917	.|1.0	.|D	.|0.91635	.|0.999	T|T	0.79509|0.79509	-0.1774|-0.1774	5|10	.|0.87932	.|D	.|0	-26.8952|-26.8952	12.6303|12.6303	0.56653|0.56653	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|118	.|Q9NRR1	.|CYTL1_HUMAN	T|Y	74|118	.|ENSP00000303550:C118Y	.|ENSP00000303550:C118Y	A|C	-|-	1|2	0|0	CYTL1|CYTL1	5067837|5067837	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.152000|0.152000	0.21847|0.21847	3.648000|3.648000	0.54410|0.54410	2.022000|2.022000	0.59522|0.59522	0.561000|0.561000	0.74099|0.74099	GCA|TGC		0.478	CYTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246802.1	NM_018659		29	51	0	0	0	1	0	29	51					T	5016936	C	T	5016936	3	4	435	1	0	0	0	0	1	0	0	0	4208	710	25	3	61	3	CYTL1	4	5016936	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	152089	5016936	186137340	2234	23159											
CYTL1	54360	broad.mit.edu	37	chr4	5018575	5018575	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccacttactctcctgcagaaCgagttcatgatggtgtacag	10	11	9	11	1	2	2	1	1	1	1	3	3	2	2	2	1	4	3	2	1	3	3	rs141557297		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:5018575C>T	ENST00000307746.4	-	3	341	c.315G>A	c.(313-315)tcG>tcA	p.S105S		NM_018659.2	NP_061129.1	Q9NRR1	CYTL1_HUMAN	cytokine-like 1	105					cartilage homeostasis (GO:1990079)|chondrocyte differentiation (GO:0002062)|chondroitin sulfate proteoglycan biosynthetic process (GO:0050650)|inner ear development (GO:0048839)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|signal transduction (GO:0007165)	extracellular space (GO:0005615)	receptor binding (GO:0005102)			breast(1)|large_intestine(4)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	11				UCEC - Uterine corpus endometrioid carcinoma (64;0.164)		TCCTGCAGAACGAGTTCATGA	0.493																																					Colon(15;457 478 29696 43408 47165)	ENST00000307746.4																			0				breast(1)|large_intestine(4)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	11						c.(313-315)tcG>tcA		cytokine-like 1		C		0,4406		0,0,2203	130	128	129		315	-9.9	0.8	4	dbSNP_134	129	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	CYTL1	NM_018659.2		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		105/137	5018575	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	54360				signal transduction	extracellular space|soluble fraction	receptor binding	g.chr4:5018575C>T	AF193766	CCDS3379.1	4p16-p15	2007-08-01			ENSG00000170891	ENSG00000170891			24435	protein-coding gene	gene with protein product		607930				10857752	Standard	NM_018659		Approved	C17, C4orf4	uc003gig.3	Q9NRR1	OTTHUMG00000125479	ENST00000307746.4:c.315G>A	4.37:g.5018575C>T							p.S105S	NM_018659.2	NP_061129.1	Q9NRR1	CYTL1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.164)	3	341	-			105						Silent	SNP	ENST00000307746.4	37	c.315G>A	CCDS3379.1																																																																																				0.493	CYTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246802.1	NM_018659		28	65	0	0	0	1	0	28	65					T	5018575	C	T	5018575	2	4	435	1	0	0	0	0	0	0	0	1	4208	523	19	1		1	CYTL1	4	5018575	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	1639	5018575	186135701	2235	23160											
STK32B	55351	broad.mit.edu	37	chr4	5448495	5448495	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcacagcctatgagctgctgCggggctgggtaagacaggca	9	7	15	10	1	1	2	1	1	0	1	1	2	1	2	1	4	4	5	1	4	2	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:5448495C>T	ENST00000282908.5	+	7	1080	c.658C>T	c.(658-660)Cgg>Tgg	p.R220W	STK32B_ENST00000508728.1_3'UTR|STK32B_ENST00000512636.1_Missense_Mutation_p.R143W|STK32B_ENST00000510398.1_Missense_Mutation_p.R173W	NM_018401.1	NP_060871.1			serine/threonine kinase 32B											breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(16)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	39						TGAGCTGCTGCGGGGCTGGGT	0.642																																						ENST00000282908.5																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(16)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	39						c.(658-660)Cgg>Tgg		serine/threonine kinase 32B							62	56	58					4																	5448495		2203	4300	6503	SO:0001583	missense	55351						ATP binding|metal ion binding|protein serine/threonine kinase activity	g.chr4:5448495C>T	AJ250839	CCDS3380.1	4p16	2009-09-30			ENSG00000152953	ENSG00000152953			14217	protein-coding gene	gene with protein product						10700184	Standard	XM_005247982		Approved	STKG6, YANK2, STK32, HSA250839	uc003gih.1	Q9NY57	OTTHUMG00000090423	ENST00000282908.5:c.658C>T	4.37:g.5448495C>T	ENSP00000282908:p.Arg220Trp					STK32B_ENST00000508728.1_3'UTR|STK32B_ENST00000512636.1_Missense_Mutation_p.R143W|STK32B_ENST00000510398.1_Missense_Mutation_p.R173W	p.R220W	NM_018401.1	NP_060871.1	Q9NY57	ST32B_HUMAN			7	1080	+			220			Protein kinase.			Missense_Mutation	SNP	ENST00000282908.5	37	c.658C>T	CCDS3380.1	.	.	.	.	.	.	.	.	.	.	C	25.1	4.602314	0.87157	.	.	ENSG00000152953	ENST00000282908;ENST00000512636;ENST00000510398	T;T;T	0.24908	1.83;1.83;1.83	5.39	5.39	0.77823	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.38605	U	0.001632	T	0.40423	0.1116	L	0.39245	1.2	0.54753	D	0.999985	D	0.89917	1.0	D	0.83275	0.996	T	0.11817	-1.0572	10	0.52906	T	0.07	.	11.7167	0.51657	0.1764:0.8235:0.0:0.0	.	220	Q9NY57	ST32B_HUMAN	W	220;143;173	ENSP00000282908:R220W;ENSP00000423209:R143W;ENSP00000420984:R173W	ENSP00000282908:R220W	R	+	1	2	STK32B	5499396	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	0.790000	0.26900	2.523000	0.85059	0.561000	0.74099	CGG		0.642	STK32B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206854.4	NM_018401		7	14	0	0	0	1	0	7	14					T	5448495	C	T	5448495	3	4	435	1	0	0	0	0	1	0	0	0	15297	759	27	1	684	1	STK32B	4	5448495	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	429920	5448495	185705781	2236	23161											
EVC2	132884	broad.mit.edu	37	chr4	5564752	5564752	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgggtacaggggccagttcGccaatgggctccagtgacag	9	7	15	10	1	0	1	0	1	0	0	2	1	1	1	3	4	1	3	3	4	2	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:5564752G>A	ENST00000344408.5	-	22	3803	c.3750C>T	c.(3748-3750)ggC>ggT	p.G1250G	EVC2_ENST00000310917.2_Silent_p.G1170G|EVC2_ENST00000344938.1_Intron	NM_147127.4	NP_667338.3	Q86UK5	LBN_HUMAN	Ellis van Creveld syndrome 2	1250					smoothened signaling pathway (GO:0007224)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(2)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(32)|lung(28)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	81						GGGCCAGTTCGCCAATGGGCT	0.443																																						ENST00000310917.2																			0				NS(2)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(32)|lung(28)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	81						c.(3508-3510)ggC>ggT		Ellis van Creveld syndrome 2							125	133	130					4																	5564752		2203	4300	6503	SO:0001819	synonymous_variant	132884					integral to membrane		g.chr4:5564752G>A	AB083067	CCDS3382.2, CCDS54718.1	4p16.2-p16.1	2008-08-01	2008-08-01		ENSG00000173040	ENSG00000173040			19747	protein-coding gene	gene with protein product		607261				12136126, 12571802	Standard	NM_147127		Approved	LBN	uc003gij.3	Q86UK5	OTTHUMG00000125493	ENST00000344408.5:c.3750C>T	4.37:g.5564752G>A						EVC2_ENST00000344938.1_Intron|EVC2_ENST00000344408.5_Silent_p.G1250G	p.G1170G	NM_001166136.1	NP_001159608.1	Q86UK5	LBN_HUMAN			22	4241	-			1250					Q86YT3|Q86YT4|Q8NG49	Silent	SNP	ENST00000344408.5	37	c.3510C>T	CCDS3382.2																																																																																				0.443	EVC2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000289822.2	NM_147127		29	109	0	0	0	1	0	29	109					A	5564752	G	A	5564752	2	1	435	1	0	0	0	0	0	0	0	1	5286	1074	38	1		1	EVC2	4	5564752	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	116257	5564752	185589524	2237	23162											
CRMP1	1400	broad.mit.edu	37	chr4	5862915	5862915	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggtcttcactccaccaggaaCgattaagttctctcctattt	9	14	6	12	1	3	0	1	0	2	0	6	2	5	1	3	2	1	1	3	2	3	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:5862915C>T	ENST00000397890.2	-	3	365	c.151G>A	c.(151-153)Gtt>Att	p.V51I	CRMP1_ENST00000511535.1_5'UTR|CRMP1_ENST00000324989.7_Missense_Mutation_p.V165I|CRMP1_ENST00000512574.1_Missense_Mutation_p.V49I	NM_001313.3	NP_001304.1	Q14194	DPYL1_HUMAN	collapsin response mediator protein 1	51					axon guidance (GO:0007411)|nervous system development (GO:0007399)|nucleobase-containing compound metabolic process (GO:0006139)|pyrimidine nucleobase catabolic process (GO:0006208)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides (GO:0016812)			NS(1)|cervix(2)|endometrium(4)|large_intestine(10)|lung(11)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	36				Colorectal(103;0.0721)		CCACCAGGAACGATTAAGTTC	0.502																																						ENST00000324989.7																			0				NS(1)|cervix(2)|endometrium(4)|large_intestine(10)|lung(11)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	36						c.(493-495)Gtt>Att		collapsin response mediator protein 1							93	89	91					4																	5862915		2203	4300	6503	SO:0001583	missense	1400				axon guidance|pyrimidine base catabolic process	cytosol|microtubule organizing center|spindle	dihydropyrimidinase activity|protein binding	g.chr4:5862915C>T	D78012	CCDS33950.1, CCDS43207.1, CCDS75102.1	4p16.1	2008-05-15			ENSG00000072832	ENSG00000072832			2365	protein-coding gene	gene with protein product		602462				8973361	Standard	XM_005247940		Approved	DRP-1, DPYSL1	uc003gis.3	Q14194	OTTHUMG00000125489	ENST00000397890.2:c.151G>A	4.37:g.5862915C>T	ENSP00000380987:p.Val51Ile					CRMP1_ENST00000512574.1_Missense_Mutation_p.V49I|CRMP1_ENST00000511535.1_5'UTR|CRMP1_ENST00000397890.2_Missense_Mutation_p.V51I	p.V165I	NM_001014809.1	NP_001014809.1	Q14194	DPYL1_HUMAN		Colorectal(103;0.0721)	3	581	-			51					A0EJG6|Q13024|Q4W5F1|Q96TC8	Missense_Mutation	SNP	ENST00000397890.2	37	c.493G>A	CCDS43207.1	.	.	.	.	.	.	.	.	.	.	C	11.87	1.768095	0.31320	.	.	ENSG00000072832	ENST00000324989;ENST00000397890;ENST00000534845;ENST00000512574	D;D;D	0.85773	-2.03;-1.99;-1.99	4.37	4.37	0.52481	Metal-dependent hydrolase, composite domain (1);	0.073770	0.53938	D	0.000056	T	0.79673	0.4486	L	0.45422	1.42	0.50171	D	0.999856	B;B;B	0.14012	0.009;0.003;0.003	B;B;B	0.06405	0.002;0.0;0.001	T	0.74487	-0.3649	10	0.19590	T	0.45	-17.5535	16.0708	0.80928	0.0:1.0:0.0:0.0	.	165;49;51	A0EJG6;E9PD68;Q14194	.;.;DPYL1_HUMAN	I	165;51;51;49	ENSP00000321606:V165I;ENSP00000380987:V51I;ENSP00000425742:V49I	ENSP00000321606:V165I	V	-	1	0	CRMP1	5913816	1.000000	0.71417	0.968000	0.41197	0.981000	0.71138	4.337000	0.59310	2.251000	0.74343	0.561000	0.74099	GTT		0.502	CRMP1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358871.1	NM_001313		54	86	0	0	0	1	0	54	86					T	5862915	C	T	5862915	3	4	435	1	0	0	0	0	1	0	0	0	3890	536	19	1	1615	1	CRMP1	4	5862915	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	298163	5862915	185291361	2238	23163											
WFS1	7466	broad.mit.edu	37	chr4	6302972	6302972	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	attggccctacctgaaggtcCttggccagaccttcatcacc	8	10	8	15	0	2	2	2	1	0	1	3	2	3	2	6	3	1	0	6	3	2	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:6302972C>T	ENST00000226760.1	+	8	1620	c.1450C>T	c.(1450-1452)Ctt>Ttt	p.L484F	WFS1_ENST00000503569.1_Missense_Mutation_p.L484F	NM_001145853.1|NM_006005.3	NP_001139325.1|NP_005996.2	O76024	WFS1_HUMAN	Wolfram syndrome 1 (wolframin)	484					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|calcium ion homeostasis (GO:0055074)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER overload response (GO:0006983)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|glucose homeostasis (GO:0042593)|kidney development (GO:0001822)|negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902236)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of programmed cell death (GO:0043069)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of type B pancreatic cell apoptotic process (GO:2000675)|neurological system process (GO:0050877)|olfactory behavior (GO:0042048)|polyubiquitinated misfolded protein transport (GO:0070845)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of growth (GO:0045927)|positive regulation of protein metabolic process (GO:0051247)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of proteolysis (GO:0045862)|protein maturation by protein folding (GO:0022417)|protein stabilization (GO:0050821)|renal water homeostasis (GO:0003091)|response to endoplasmic reticulum stress (GO:0034976)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)	activating transcription factor binding (GO:0033613)|ATPase binding (GO:0051117)|transporter activity (GO:0005215)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	21				Colorectal(103;0.0512)		CCTGAAGGTCCTTGGCCAGAC	0.632																																						ENST00000226760.1																			0				central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	21						c.(1450-1452)Ctt>Ttt		Wolfram syndrome 1 (wolframin)							107	77	87					4																	6302972		2203	4300	6503	SO:0001583	missense	7466				endoplasmic reticulum calcium ion homeostasis|endoplasmic reticulum unfolded protein response|ER overload response|ER-associated protein catabolic process|glucose homeostasis|kidney development|negative regulation of neuron apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|polyubiquitinated misfolded protein transport|positive regulation of calcium ion transport|positive regulation of growth|positive regulation of protein ubiquitination|positive regulation of proteolysis|protein stabilization|renal water homeostasis|sensory perception of sound|visual perception	dendrite|integral to endoplasmic reticulum membrane	activating transcription factor binding|ATPase binding|transporter activity|ubiquitin protein ligase binding	g.chr4:6302972C>T	AF084481	CCDS3386.1	4p16.1	2014-06-18			ENSG00000109501	ENSG00000109501			12762	protein-coding gene	gene with protein product		606201		DFNA6, DFNA14, DFNA38		7987399, 9771706	Standard	NM_006005		Approved	DIDMOAD, WFS	uc003gix.3	O76024	OTTHUMG00000090431	ENST00000226760.1:c.1450C>T	4.37:g.6302972C>T	ENSP00000226760:p.Leu484Phe					WFS1_ENST00000503569.1_Missense_Mutation_p.L484F	p.L484F	NM_001145853.1|NM_006005.3	NP_001139325.1|NP_005996.2	O76024	WFS1_HUMAN		Colorectal(103;0.0512)	8	1620	+			484					B2R797|D3DVT1|Q8N6I3|Q9UNW6	Missense_Mutation	SNP	ENST00000226760.1	37	c.1450C>T	CCDS3386.1	.	.	.	.	.	.	.	.	.	.	c	0.637	-0.815064	0.02776	.	.	ENSG00000109501	ENST00000503569;ENST00000226760	D;D	0.90133	-2.62;-2.62	4.77	4.77	0.60923	.	0.291360	0.33772	N	0.004571	D	0.85124	0.5625	L	0.42686	1.345	0.21325	N	0.999721	B	0.21753	0.06	B	0.25291	0.059	T	0.73626	-0.3923	10	0.38643	T	0.18	-12.8893	7.0037	0.24823	0.0:0.8014:0.0:0.1986	.	484	O76024	WFS1_HUMAN	F	484	ENSP00000423337:L484F;ENSP00000226760:L484F	ENSP00000226760:L484F	L	+	1	0	WFS1	6353873	0.766000	0.28496	0.209000	0.23619	0.159000	0.22180	1.490000	0.35573	2.195000	0.70347	0.457000	0.33378	CTT		0.632	WFS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206863.1			25	26	0	0	0	1	0	25	26					T	6302972	C	T	6302972	3	4	435	1	0	0	0	0	1	0	0	0	17357	681	24	3	1476	3	WFS1	4	6302972	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	440057	6302972	184851304	2239	23164											
WFS1	7466	broad.mit.edu	37	chr4	6303575	6303575	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaaggagaccaacatggcgCgcacccagatcctctgcagc	11	4	12	14	2	1	2	0	0	1	2	2	4	2	3	3	3	3	2	3	3	2	0	rs112967046		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:6303575C>T	ENST00000226760.1	+	8	2223	c.2053C>T	c.(2053-2055)Cgc>Tgc	p.R685C	WFS1_ENST00000503569.1_Missense_Mutation_p.R685C	NM_001145853.1|NM_006005.3	NP_001139325.1|NP_005996.2	O76024	WFS1_HUMAN	Wolfram syndrome 1 (wolframin)	685					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|calcium ion homeostasis (GO:0055074)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER overload response (GO:0006983)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|glucose homeostasis (GO:0042593)|kidney development (GO:0001822)|negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902236)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of programmed cell death (GO:0043069)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of type B pancreatic cell apoptotic process (GO:2000675)|neurological system process (GO:0050877)|olfactory behavior (GO:0042048)|polyubiquitinated misfolded protein transport (GO:0070845)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of growth (GO:0045927)|positive regulation of protein metabolic process (GO:0051247)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of proteolysis (GO:0045862)|protein maturation by protein folding (GO:0022417)|protein stabilization (GO:0050821)|renal water homeostasis (GO:0003091)|response to endoplasmic reticulum stress (GO:0034976)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)	activating transcription factor binding (GO:0033613)|ATPase binding (GO:0051117)|transporter activity (GO:0005215)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	21				Colorectal(103;0.0512)		CAACATGGCGCGCACCCAGAT	0.637																																						ENST00000226760.1																			0				central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	21	GRCh37	CM024441	WFS1	M	rs112967046	c.(2053-2055)Cgc>Tgc		Wolfram syndrome 1 (wolframin)		C	CYS/ARG,CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	67	64	65		2053,2053	5.5	0.9	4	dbSNP_132	65	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	WFS1	NM_001145853.1,NM_006005.3	180,180	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	probably-damaging,probably-damaging	685/891,685/891	6303575	2,13004	2203	4300	6503	SO:0001583	missense	7466				endoplasmic reticulum calcium ion homeostasis|endoplasmic reticulum unfolded protein response|ER overload response|ER-associated protein catabolic process|glucose homeostasis|kidney development|negative regulation of neuron apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|polyubiquitinated misfolded protein transport|positive regulation of calcium ion transport|positive regulation of growth|positive regulation of protein ubiquitination|positive regulation of proteolysis|protein stabilization|renal water homeostasis|sensory perception of sound|visual perception	dendrite|integral to endoplasmic reticulum membrane	activating transcription factor binding|ATPase binding|transporter activity|ubiquitin protein ligase binding	g.chr4:6303575C>T	AF084481	CCDS3386.1	4p16.1	2014-06-18			ENSG00000109501	ENSG00000109501			12762	protein-coding gene	gene with protein product		606201		DFNA6, DFNA14, DFNA38		7987399, 9771706	Standard	NM_006005		Approved	DIDMOAD, WFS	uc003gix.3	O76024	OTTHUMG00000090431	ENST00000226760.1:c.2053C>T	4.37:g.6303575C>T	ENSP00000226760:p.Arg685Cys					WFS1_ENST00000503569.1_Missense_Mutation_p.R685C	p.R685C	NM_001145853.1|NM_006005.3	NP_001139325.1|NP_005996.2	O76024	WFS1_HUMAN		Colorectal(103;0.0512)	8	2223	+			685					B2R797|D3DVT1|Q8N6I3|Q9UNW6	Missense_Mutation	SNP	ENST00000226760.1	37	c.2053C>T	CCDS3386.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.125714	0.77436	2.27E-4	1.16E-4	ENSG00000109501	ENST00000503569;ENST00000226760;ENST00000540337	D;D	0.97161	-4.27;-4.27	5.49	5.49	0.81192	.	0.057214	0.64402	D	0.000001	D	0.98131	0.9383	M	0.70595	2.14	0.80722	D	1	D	0.89917	1.0	D	0.67231	0.95	D	0.99069	1.0833	10	0.87932	D	0	-42.008	18.357	0.90361	0.0:1.0:0.0:0.0	.	685	O76024	WFS1_HUMAN	C	685;685;63	ENSP00000423337:R685C;ENSP00000226760:R685C	ENSP00000226760:R685C	R	+	1	0	WFS1	6354476	1.000000	0.71417	0.911000	0.35937	0.906000	0.53458	7.249000	0.78278	2.589000	0.87451	0.561000	0.74099	CGC		0.637	WFS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206863.1			10	25	0	0	0	1	0	10	25					T	6303575	C	T	6303575	3	4	435	1	0	0	0	0	1	0	0	0	17357	768	27	1	2079	1	WFS1	4	6303575	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	603	6303575	184850701	2240	23165											
WFS1	7466	broad.mit.edu	37	chr4	6304076	6304076	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tcagctgcctcaactgcatgGcccagctctcacccaccagg	8	7	8	18	0	3	0	3	0	1	0	4	0	3	0	4	2	5	3	4	2	1	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:6304076G>A	ENST00000226760.1	+	8	2724	c.2554G>A	c.(2554-2556)Gcc>Acc	p.A852T	WFS1_ENST00000503569.1_Missense_Mutation_p.A852T	NM_001145853.1|NM_006005.3	NP_001139325.1|NP_005996.2	O76024	WFS1_HUMAN	Wolfram syndrome 1 (wolframin)	852					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|calcium ion homeostasis (GO:0055074)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER overload response (GO:0006983)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|glucose homeostasis (GO:0042593)|kidney development (GO:0001822)|negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902236)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of programmed cell death (GO:0043069)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of type B pancreatic cell apoptotic process (GO:2000675)|neurological system process (GO:0050877)|olfactory behavior (GO:0042048)|polyubiquitinated misfolded protein transport (GO:0070845)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of growth (GO:0045927)|positive regulation of protein metabolic process (GO:0051247)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of proteolysis (GO:0045862)|protein maturation by protein folding (GO:0022417)|protein stabilization (GO:0050821)|renal water homeostasis (GO:0003091)|response to endoplasmic reticulum stress (GO:0034976)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)	activating transcription factor binding (GO:0033613)|ATPase binding (GO:0051117)|transporter activity (GO:0005215)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	21				Colorectal(103;0.0512)		CAACTGCATGGCCCAGCTCTC	0.627																																						ENST00000226760.1																			0				central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	21						c.(2554-2556)Gcc>Acc		Wolfram syndrome 1 (wolframin)							47	46	46					4																	6304076		2203	4300	6503	SO:0001583	missense	7466				endoplasmic reticulum calcium ion homeostasis|endoplasmic reticulum unfolded protein response|ER overload response|ER-associated protein catabolic process|glucose homeostasis|kidney development|negative regulation of neuron apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|polyubiquitinated misfolded protein transport|positive regulation of calcium ion transport|positive regulation of growth|positive regulation of protein ubiquitination|positive regulation of proteolysis|protein stabilization|renal water homeostasis|sensory perception of sound|visual perception	dendrite|integral to endoplasmic reticulum membrane	activating transcription factor binding|ATPase binding|transporter activity|ubiquitin protein ligase binding	g.chr4:6304076G>A	AF084481	CCDS3386.1	4p16.1	2014-06-18			ENSG00000109501	ENSG00000109501			12762	protein-coding gene	gene with protein product		606201		DFNA6, DFNA14, DFNA38		7987399, 9771706	Standard	NM_006005		Approved	DIDMOAD, WFS	uc003gix.3	O76024	OTTHUMG00000090431	ENST00000226760.1:c.2554G>A	4.37:g.6304076G>A	ENSP00000226760:p.Ala852Thr					WFS1_ENST00000503569.1_Missense_Mutation_p.A852T	p.A852T	NM_001145853.1|NM_006005.3	NP_001139325.1|NP_005996.2	O76024	WFS1_HUMAN		Colorectal(103;0.0512)	8	2724	+			852					B2R797|D3DVT1|Q8N6I3|Q9UNW6	Missense_Mutation	SNP	ENST00000226760.1	37	c.2554G>A	CCDS3386.1	.	.	.	.	.	.	.	.	.	.	G	2.842	-0.240246	0.05944	.	.	ENSG00000109501	ENST00000503569;ENST00000226760;ENST00000540337	D;D	0.93133	-3.17;-3.17	4.82	3.97	0.46021	.	0.251307	0.38326	N	0.001739	D	0.84257	0.5432	N	0.14661	0.345	0.35440	D	0.794827	B	0.11235	0.004	B	0.11329	0.006	T	0.79845	-0.1631	10	0.25751	T	0.34	-28.7108	7.2964	0.26395	0.0929:0.0:0.7275:0.1796	.	852	O76024	WFS1_HUMAN	T	852;852;230	ENSP00000423337:A852T;ENSP00000226760:A852T	ENSP00000226760:A852T	A	+	1	0	WFS1	6354977	1.000000	0.71417	0.986000	0.45419	0.955000	0.61496	2.016000	0.40971	1.240000	0.43803	0.561000	0.74099	GCC		0.627	WFS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206863.1			12	16	0	0	0	1	0	12	16					A	6304076	G	A	6304076	3	1	435	1	0	0	0	0	1	0	0	0	17357	1203	42	3	2580	3	WFS1	4	6304076	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	501	6304076	184850200	2241	23166											
TBC1D14	57533	broad.mit.edu	37	chr4	7026873	7026873	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	aggacatcctgaccaagatgGacttcattcacatggcccag	12	8	9	12	0	2	2	2	1	0	1	3	4	3	4	3	3	0	0	3	3	1	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:7026873G>A	ENST00000409757.4	+	13	2024	c.1900G>A	c.(1900-1902)Gac>Aac	p.D634N	TBC1D14_ENST00000448507.1_Missense_Mutation_p.D634N|TBC1D14_ENST00000410031.1_Missense_Mutation_p.D406N|TBC1D14_ENST00000446947.2_Missense_Mutation_p.D281N|TBC1D14_ENST00000451522.2_Missense_Mutation_p.D354N	NM_020773.2	NP_065824.2	Q9P2M4	TBC14_HUMAN	TBC1 domain family, member 14	634					negative regulation of autophagy (GO:0010507)|recycling endosome to Golgi transport (GO:0071955)|regulation of autophagic vacuole assembly (GO:2000785)	autophagic vacuole (GO:0005776)|Golgi apparatus (GO:0005794)|recycling endosome (GO:0055037)	protein kinase binding (GO:0019901)|Rab GTPase activator activity (GO:0005097)			breast(1)|endometrium(5)|large_intestine(4)|lung(9)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	22						GACCAAGATGGACTTCATTCA	0.602																																						ENST00000409757.4																			0				breast(1)|endometrium(5)|large_intestine(4)|lung(9)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	22						c.(1900-1902)Gac>Aac		TBC1 domain family, member 14							142	115	124					4																	7026873		2203	4300	6503	SO:0001583	missense	57533					intracellular	Rab GTPase activator activity	g.chr4:7026873G>A	AL833868	CCDS3394.2, CCDS47006.1, CCDS75104.1	4p16.1	2008-01-22			ENSG00000132405	ENSG00000132405			29246	protein-coding gene	gene with protein product		614855				10718198	Standard	NM_020773		Approved	KIAA1322	uc003gjs.4	Q9P2M4	OTTHUMG00000090493	ENST00000409757.4:c.1900G>A	4.37:g.7026873G>A	ENSP00000386921:p.Asp634Asn					TBC1D14_ENST00000451522.2_Missense_Mutation_p.D354N|TBC1D14_ENST00000410031.1_Missense_Mutation_p.D406N|TBC1D14_ENST00000446947.2_Missense_Mutation_p.D281N|TBC1D14_ENST00000448507.1_Missense_Mutation_p.D634N	p.D634N	NM_020773.2	NP_065824.2	Q9P2M4	TBC14_HUMAN			13	2024	+			634					B9A6L5|D3DVT4|E9PAZ6|Q8IW15|Q8NDK3	Missense_Mutation	SNP	ENST00000409757.4	37	c.1900G>A	CCDS3394.2	.	.	.	.	.	.	.	.	.	.	G	27.2	4.811405	0.90707	.	.	ENSG00000132405	ENST00000448507;ENST00000409757;ENST00000410031;ENST00000451522;ENST00000446947	T;T;T;T;T	0.29655	1.56;1.56;1.56;1.56;1.56	5.15	5.15	0.70609	Rab-GAP/TBC domain (2);	0.051134	0.85682	D	0.000000	T	0.52500	0.1738	M	0.78049	2.395	0.80722	D	1	D;B;B	0.59357	0.985;0.389;0.243	P;B;B	0.57846	0.828;0.202;0.119	T	0.52064	-0.8625	10	0.35671	T	0.21	-28.1889	17.6366	0.88124	0.0:0.0:1.0:0.0	.	281;354;634	F5GXK4;Q9P2M4-2;Q9P2M4	.;.;TBC14_HUMAN	N	634;634;406;354;281	ENSP00000404041:D634N;ENSP00000386921:D634N;ENSP00000386343:D406N;ENSP00000388886:D354N;ENSP00000405875:D281N	ENSP00000386921:D634N	D	+	1	0	TBC1D14	7077774	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.386000	0.97228	2.409000	0.81822	0.561000	0.74099	GAC		0.602	TBC1D14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206981.3	NM_020773		35	41	0	0	0	1	0	35	41					A	7026873	G	A	7026873	3	1	435	1	0	0	0	0	1	0	0	0	15600	1174	41	3	1953	3	TBC1D14	4	7026873	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	722797	7026873	184127403	2242	23167											
TADA2B	93624	broad.mit.edu	37	chr4	7056103	7056103	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgtcaactatgatgacgaCgacgtggagatcgagctgaa	12	9	12	8	4	2	4	1	3	1	1	3	8	2	4	0	1	2	1	0	1	3	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:7056103C>T	ENST00000310074.7	+	2	774	c.585C>T	c.(583-585)gaC>gaT	p.D195D	TADA2B_ENST00000512388.1_Silent_p.D120D|TADA2B_ENST00000515646.1_Silent_p.D103D	NM_152293.2	NP_689506.2	Q86TJ2	TAD2B_HUMAN	transcriptional adaptor 2B	195					chromatin organization (GO:0006325)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	SAGA-type complex (GO:0070461)|STAGA complex (GO:0030914)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(3)|endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)	18						ATGATGACGACGACGTGGAGA	0.577																																						ENST00000310074.7																			0				breast(3)|endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)	18						c.(583-585)gaC>gaT		transcriptional adaptor 2B							58	62	60					4																	7056103		2035	4195	6230	SO:0001819	synonymous_variant	93624				regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|zinc ion binding	g.chr4:7056103C>T	AK026299	CCDS47007.1	4p16.1	2009-10-02			ENSG00000173011	ENSG00000173011			30781	protein-coding gene	gene with protein product		608790				12972612, 18936164	Standard	NM_152293		Approved	MGC21874	uc003gjw.4	Q86TJ2	OTTHUMG00000159983	ENST00000310074.7:c.585C>T	4.37:g.7056103C>T						TADA2B_ENST00000512388.1_Silent_p.D120D|TADA2B_ENST00000515646.1_Silent_p.D103D	p.D195D	NM_152293.2	NP_689506.2	Q86TJ2	TAD2B_HUMAN			2	774	+			195					A0AUJ8|A4QMR7|B3KSN0|B3KU86|Q6MZG9	Silent	SNP	ENST00000310074.7	37	c.585C>T	CCDS47007.1																																																																																				0.577	TADA2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358687.2	NM_152293		17	28	0	0	0	1	0	17	28					T	7056103	C	T	7056103	2	4	435	1	0	0	0	0	0	0	0	1	15508	535	19	1		1	TADA2B	4	7056103	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	29230	7056103	184098173	2243	23168											
AFAP1	60312	broad.mit.edu	37	chr4	7774729	7774729	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ctcctccaggatcgcctgcgGcttcctgcctggaattccca	5	10	9	17	2	0	0	0	0	0	0	5	2	4	2	6	3	2	1	6	3	1	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:7774729G>A	ENST00000360265.4	-	14	2053	c.1819C>T	c.(1819-1821)Ccg>Tcg	p.P607S	AFAP1_ENST00000358461.2_Missense_Mutation_p.P607S|AFAP1_ENST00000513842.1_5'UTR|AFAP1-AS1_ENST00000608442.1_RNA|AFAP1_ENST00000420658.1_Missense_Mutation_p.P691S|AFAP1_ENST00000382543.3_Missense_Mutation_p.P691S			Q8N556	AFAP1_HUMAN	actin filament associated protein 1	607	Interaction with F-actin. {ECO:0000250}.					cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(4)|stomach(2)	32						ATCGCCTGCGGCTTCCTGCCT	0.607																																						ENST00000420658.1																			0				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(4)|stomach(2)	32						c.(2071-2073)Ccg>Tcg		actin filament associated protein 1							23	25	25					4																	7774729		2203	4300	6503	SO:0001583	missense	60312					actin cytoskeleton|cytoplasm|focal adhesion	actin binding	g.chr4:7774729G>A	AB209676	CCDS3397.1, CCDS47010.1	4p16	2014-02-12	2007-02-07		ENSG00000196526	ENSG00000196526		"Pleckstrin homology (PH) domain containing"	24017	protein-coding gene	gene with protein product		608252				14755689, 11641786, 11607843	Standard	NM_198595		Approved	AFAP-110, AFAP	uc011bwk.1	Q8N556	OTTHUMG00000125515	ENST00000360265.4:c.1819C>T	4.37:g.7774729G>A	ENSP00000353402:p.Pro607Ser					AFAP1_ENST00000513842.1_5'UTR|AFAP1_ENST00000382543.3_Missense_Mutation_p.P691S|AFAP1_ENST00000358461.2_Missense_Mutation_p.P607S|AFAP1_ENST00000360265.4_Missense_Mutation_p.P607S	p.P691S	NM_001134647.1	NP_001128119.1	Q8N556	AFAP1_HUMAN			16	2343	-			628					A8K442|B4DMU2|E9PDT7|Q59EY5|Q9HBY1	Missense_Mutation	SNP	ENST00000360265.4	37	c.2071C>T	CCDS3397.1	.	.	.	.	.	.	.	.	.	.	G	0.054	-1.240708	0.01493	.	.	ENSG00000196526	ENST00000360265;ENST00000420658;ENST00000358461;ENST00000382543	T;T;T;T	0.39787	1.06;1.06;1.06;1.06	4.9	0.892	0.19230	.	0.339108	0.30686	N	0.009098	T	0.15003	0.0362	N	0.03115	-0.41	0.19775	N	0.999957	B;B	0.11235	0.0;0.004	B;B	0.10450	0.0;0.005	T	0.29119	-1.0022	10	0.09338	T	0.73	-15.6533	6.8963	0.24257	0.2449:0.0:0.3915:0.3636	.	691;607	E9PDT7;Q8N556	.;AFAP1_HUMAN	S	607;691;607;691	ENSP00000353402:P607S;ENSP00000410689:P691S;ENSP00000351245:P607S;ENSP00000371983:P691S	ENSP00000351245:P607S	P	-	1	0	AFAP1	7825629	0.996000	0.38824	0.695000	0.30226	0.070000	0.16714	0.298000	0.19120	-0.075000	0.12798	-0.694000	0.03704	CCG		0.607	AFAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246842.2	NM_021638		11	6	0	0	0	1	0	11	6					A	7774729	G	A	7774729	3	1	435	1	0	0	0	0	1	0	0	0	353	1203	42	3	385	3	AFAP1	4	7774729	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	718626	7774729	183379547	2244	23169											
AFAP1	60312	broad.mit.edu	37	chr4	7780603	7780603	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggggggctttttacccttgaGctgttgaaataaacatataa	12	13	10	6	0	0	2	0	2	0	0	0	2	0	2	1	3	3	3	1	3	6	8			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:7780603G>A	ENST00000360265.4	-	12	1765	c.1531C>T	c.(1531-1533)Ctc>Ttc	p.L511F	AFAP1_ENST00000358461.2_Splice_Site_p.L511F|AFAP1_ENST00000513842.1_5'UTR|AFAP1-AS1_ENST00000608442.1_RNA|AFAP1_ENST00000420658.1_Splice_Site_p.L595F|AFAP1_ENST00000382543.3_Splice_Site_p.L595F			Q8N556	AFAP1_HUMAN	actin filament associated protein 1	511						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(4)|stomach(2)	32						TTACCCTTGAGCTGTTGAAAT	0.408																																						ENST00000420658.1																			0				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(4)|stomach(2)	32						c.e14-1		actin filament associated protein 1							59	68	65					4																	7780603		2203	4300	6503	SO:0001630	splice_region_variant	60312					actin cytoskeleton|cytoplasm|focal adhesion	actin binding	g.chr4:7780603G>A	AB209676	CCDS3397.1, CCDS47010.1	4p16	2014-02-12	2007-02-07		ENSG00000196526	ENSG00000196526		"Pleckstrin homology (PH) domain containing"	24017	protein-coding gene	gene with protein product		608252				14755689, 11641786, 11607843	Standard	NM_198595		Approved	AFAP-110, AFAP	uc011bwk.1	Q8N556	OTTHUMG00000125515	ENST00000360265.4:c.1531-1C>T	4.37:g.7780603G>A						AFAP1_ENST00000513842.1_5'UTR|AFAP1_ENST00000382543.3_Splice_Site_p.L595_splice|AFAP1_ENST00000358461.2_Splice_Site_p.L511_splice|AFAP1_ENST00000360265.4_Splice_Site_p.L511_splice	p.L595_splice	NM_001134647.1	NP_001128119.1	Q8N556	AFAP1_HUMAN			14	2055	-			553			Interaction with F-actin (By similarity).		A8K442|B4DMU2|E9PDT7|Q59EY5|Q9HBY1	Splice_Site	SNP	ENST00000360265.4	37	c.1782_splice	CCDS3397.1	.	.	.	.	.	.	.	.	.	.	G	6.594	0.477927	0.12521	.	.	ENSG00000196526	ENST00000360265;ENST00000420658;ENST00000358461;ENST00000382543	T;T;T;T	0.15372	2.43;2.46;2.43;2.46	4.66	-5.81	0.02340	.	1.193770	0.05949	N	0.638355	T	0.12646	0.0307	L	0.43152	1.355	0.26909	N	0.966937	B;B	0.09022	0.002;0.0	B;B	0.06405	0.001;0.002	T	0.31696	-0.9934	10	0.29301	T	0.29	-3.3363	7.4689	0.27336	0.3312:0.2438:0.425:0.0	.	595;511	E9PDT7;Q8N556	.;AFAP1_HUMAN	F	511;595;511;595	ENSP00000353402:L511F;ENSP00000410689:L595F;ENSP00000351245:L511F;ENSP00000371983:L595F	ENSP00000351245:L511F	L	-	1	0	AFAP1	7831503	0.893000	0.30496	0.254000	0.24359	0.894000	0.52154	-0.159000	0.10056	-1.402000	0.02056	-0.302000	0.09304	CTC		0.408	AFAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246842.2	NM_021638	Missense_Mutation	10	44	0	0	0	1	0	10	44					A	7780603	G	A	7780603	5	1	435	1	0	0	0	0	0	0	1	0	353	985	34	3	681	3	AFAP1	4	7780603	Splice_Site	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	5874	7780603	183373673	2245	23170											
SH3TC1	54436	broad.mit.edu	37	chr4	8230217	8230217	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctcctggaggccgtgcggctGttctcgaggctgccccttgg	2	10	15	14	3	1	0	0	0	1	0	3	2	2	1	4	5	2	3	4	5	0	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:8230217G>C	ENST00000245105.3	+	12	2863	c.2796G>C	c.(2794-2796)ctG>ctC	p.L932L	SH3TC1_ENST00000539824.1_Silent_p.L856L	NM_018986.3	NP_061859	Q8TE82	S3TC1_HUMAN	SH3 domain and tetratricopeptide repeats 1	932										NS(1)|breast(3)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33						CCGTGCGGCTGTTCTCGAGGC	0.701																																					NSCLC(145;2298 2623 35616 37297)	ENST00000539824.1																			0				NS(1)|breast(3)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33						c.(2566-2568)ctG>ctC		SH3 domain and tetratricopeptide repeats 1							23	27	26					4																	8230217		2200	4295	6495	SO:0001819	synonymous_variant	54436						binding	g.chr4:8230217G>C	AK074093	CCDS3399.1	4p16.1	2013-01-11			ENSG00000125089	ENSG00000125089		"Tetratricopeptide (TTC) repeat domain containing"	26009	protein-coding gene	gene with protein product							Standard	NM_018986		Approved	FLJ20356	uc003gkv.4	Q8TE82	OTTHUMG00000160934	ENST00000245105.3:c.2796G>C	4.37:g.8230217G>C						SH3TC1_ENST00000245105.3_Silent_p.L932L	p.L856L			Q8TE82	S3TC1_HUMAN			12	2942	+			932					Q4W5G5	Silent	SNP	ENST00000245105.3	37	c.2568G>C	CCDS3399.1																																																																																				0.701	SH3TC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206991.2	NM_018986		11	18	0	0	0	1	0	11	18					C	8230217	G	C	8230217	2	2	435	1	0	0	0	0	0	0	0	1	14261	1364	48	5		5	SH3TC1	4	8230217	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	449614	8230217	182924059	2246	23171											
CPZ	8532	broad.mit.edu	37	chr4	8605825	8605825	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggcctcccgctgcgcccacGtggccaggacctacagcatc	6	5	11	19	4	0	0	0	0	0	0	2	1	1	1	5	3	3	2	5	3	1	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:8605825G>A	ENST00000360986.4	+	4	793	c.619G>A	c.(619-621)Gtg>Atg	p.V207M	CPZ_ENST00000429646.2_5'UTR|CPZ_ENST00000382480.2_Missense_Mutation_p.V70M|CPZ_ENST00000315782.6_Missense_Mutation_p.V196M	NM_001014447.2	NP_001014447	Q66K79	CBPZ_HUMAN	carboxypeptidase Z	207					proteolysis (GO:0006508)|Wnt signaling pathway (GO:0016055)	extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(23)|ovary(3)|pancreas(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						CTGCGCCCACGTGGCCAGGAC	0.692																																						ENST00000382480.2																			0				cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(23)|ovary(3)|pancreas(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						c.(208-210)Gtg>Atg		carboxypeptidase Z							18	16	17					4																	8605825		2184	4278	6462	SO:0001583	missense	8532				proteolysis|Wnt receptor signaling pathway	proteinaceous extracellular matrix	metallocarboxypeptidase activity|zinc ion binding	g.chr4:8605825G>A	U83411	CCDS3404.1, CCDS33953.1, CCDS43212.1	4p16.1	2012-02-10			ENSG00000109625	ENSG00000109625			2333	protein-coding gene	gene with protein product	"metallocarboxypeptidase Z"	603105				9099699	Standard	NM_001014447		Approved		uc003glm.3	Q66K79	OTTHUMG00000090513	ENST00000360986.4:c.619G>A	4.37:g.8605825G>A	ENSP00000354255:p.Val207Met					CPZ_ENST00000429646.2_5'UTR|CPZ_ENST00000360986.4_Missense_Mutation_p.V207M|CPZ_ENST00000315782.6_Missense_Mutation_p.V196M	p.V70M	NM_001014448.2	NP_001014448.1	Q66K79	CBPZ_HUMAN			4	1008	+			207			FZ.		O00520|Q96MX2	Missense_Mutation	SNP	ENST00000360986.4	37	c.208G>A	CCDS33953.1	.	.	.	.	.	.	.	.	.	.	G	16.94	3.260835	0.59431	.	.	ENSG00000109625	ENST00000360986;ENST00000382480;ENST00000315782	T;T;T	0.11385	2.78;2.78;2.78	3.86	-0.0665	0.13764	Peptidase M14, carboxypeptidase A (1);	0.269957	0.33572	N	0.004766	T	0.13713	0.0332	L	0.31752	0.955	0.80722	D	1	D;D	0.58268	0.982;0.974	P;P	0.59115	0.769;0.852	T	0.02868	-1.1100	10	0.87932	D	0	-19.8623	7.2767	0.26288	0.7291:0.0:0.2709:0.0	.	196;207	Q66K79-2;Q66K79	.;CBPZ_HUMAN	M	207;70;196	ENSP00000354255:V207M;ENSP00000371920:V70M;ENSP00000315074:V196M	ENSP00000315074:V196M	V	+	1	0	CPZ	8656725	0.807000	0.29009	0.835000	0.33067	0.899000	0.52679	0.579000	0.23788	0.005000	0.14708	0.555000	0.69702	GTG		0.692	CPZ-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207001.4	NM_003652		4	6	0	0	0	1	0	4	6					A	8605825	G	A	8605825	3	1	435	1	0	0	0	0	1	0	0	0	3839	1145	40	1	633	1	CPZ	4	8605825	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	375608	8605825	182548451	2247	23172											
SLC2A9	56606	broad.mit.edu	37	chr4	9836542	9836542	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ggagcccaacagcaaagttgGagagccagttgacggtgcct	11	6	14	10	1	0	2	0	1	0	1	0	4	0	3	3	3	5	3	3	3	2	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:9836542G>A	ENST00000264784.3	-	11	1435	c.1382C>T	c.(1381-1383)tCc>tTc	p.S461F	SLC2A9_ENST00000309065.3_Missense_Mutation_p.S432F|SLC2A9_ENST00000506583.1_Missense_Mutation_p.S432F	NM_020041.2	NP_064425.2	Q9NRM0	GTR9_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 9	461					glucose transport (GO:0015758)|proton transport (GO:0015992)|transmembrane transport (GO:0055085)|urate metabolic process (GO:0046415)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)	glucose transmembrane transporter activity (GO:0005355)|sugar:proton symporter activity (GO:0005351)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(1)	35					Losartan(DB00678)|Probenecid(DB01032)	AGCAAAGTTGGAGAGCCAGTT	0.537																																						ENST00000506583.1																			0				NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(1)	35						c.(1294-1296)tCc>tTc		solute carrier family 2 (facilitated glucose transporter), member 9							66	59	61					4																	9836542		2203	4300	6503	SO:0001583	missense	56606				glucose transport|urate metabolic process	integral to membrane|plasma membrane	sugar:hydrogen symporter activity	g.chr4:9836542G>A	AF210317	CCDS3406.1, CCDS3407.1	4p16.1	2013-05-22			ENSG00000109667	ENSG00000109667		"Solute carriers"	13446	protein-coding gene	gene with protein product	"urate voltage-driven efflux transporter 1"	606142				10860667, 17710649	Standard	NM_020041		Approved	Glut9, GLUTX, URATv1	uc003gmc.3	Q9NRM0	OTTHUMG00000044263	ENST00000264784.3:c.1382C>T	4.37:g.9836542G>A	ENSP00000264784:p.Ser461Phe					SLC2A9_ENST00000264784.3_Missense_Mutation_p.S461F|SLC2A9_ENST00000309065.3_Missense_Mutation_p.S432F	p.S432F			Q9NRM0	GTR9_HUMAN			13	1512	-			461					Q0VGC4|Q4W5D1|Q8WV30|Q96P00	Missense_Mutation	SNP	ENST00000264784.3	37	c.1295C>T	CCDS3407.1	.	.	.	.	.	.	.	.	.	.	G	14.57	2.575916	0.45902	.	.	ENSG00000109667	ENST00000506583;ENST00000264784;ENST00000309065	T;T;T	0.42513	0.97;0.97;0.97	5.27	4.42	0.53409	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.120703	0.64402	D	0.000020	T	0.57829	0.2080	M	0.64567	1.98	0.39073	D	0.960767	D;D	0.89917	0.999;1.0	D;D	0.76575	0.979;0.988	T	0.62416	-0.6859	10	0.87932	D	0	.	8.8733	0.35330	0.0:0.164:0.6662:0.1698	.	432;461	Q9NRM0-2;Q9NRM0	.;GTR9_HUMAN	F	432;461;432	ENSP00000422209:S432F;ENSP00000264784:S461F;ENSP00000311383:S432F	ENSP00000264784:S461F	S	-	2	0	SLC2A9	9445640	1.000000	0.71417	1.000000	0.80357	0.246000	0.25737	4.790000	0.62453	1.189000	0.43028	-0.291000	0.09656	TCC		0.537	SLC2A9-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207055.1			11	11	0	0	0	1	0	11	11					A	9836542	G	A	9836542	3	1	435	1	0	0	0	0	1	0	0	0	14552	1174	41	3	248	3	SLC2A9	4	9836542	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	1230717	9836542	181317734	2248	23173											
ZNF518B	85460	broad.mit.edu	37	chr4	10445344	10445344	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cttgcttatttaattcactgCttccttgctgtccatacaag	8	17	5	11	0	1	0	1	0	0	0	3	0	3	0	2	0	4	3	2	0	4	8			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:10445344C>T	ENST00000326756.3	-	3	3047	c.2609G>A	c.(2608-2610)aGc>aAc	p.S870N		NM_053042.2	NP_444270.2	Q9C0D4	Z518B_HUMAN	zinc finger protein 518B	870					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	42						TAATTCACTGCTTCCTTGCTG	0.398																																						ENST00000326756.3																			0				breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	42						c.(2608-2610)aGc>aAc		zinc finger protein 518B							73	73	73					4																	10445344		2203	4300	6503	SO:0001583	missense	85460				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr4:10445344C>T	AB051516	CCDS33960.1	4p16.1	2007-12-07				ENSG00000178163		"Zinc fingers, C2H2-type"	29365	protein-coding gene	gene with protein product						11214970	Standard	XM_005248193		Approved	KIAA1729	uc003gmn.3	Q9C0D4		ENST00000326756.3:c.2609G>A	4.37:g.10445344C>T	ENSP00000317614:p.Ser870Asn						p.S870N	NM_053042.2	NP_444270.2	Q9C0D4	Z518B_HUMAN			3	3047	-			870					Q96LN8	Missense_Mutation	SNP	ENST00000326756.3	37	c.2609G>A	CCDS33960.1	.	.	.	.	.	.	.	.	.	.	C	10.28	1.307975	0.23821	.	.	ENSG00000178163	ENST00000326756	T	0.01787	4.64	5.8	3.14	0.36123	.	0.209859	0.33364	N	0.004990	T	0.01730	0.0055	L	0.36672	1.1	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.47249	-0.9132	10	0.18710	T	0.47	-15.5173	9.1958	0.37226	0.0:0.6473:0.0:0.3527	.	870	Q9C0D4	Z518B_HUMAN	N	870	ENSP00000317614:S870N	ENSP00000317614:S870N	S	-	2	0	ZNF518B	10054442	0.000000	0.05858	0.018000	0.16275	0.004000	0.04260	-0.128000	0.10531	0.812000	0.34326	-0.136000	0.14681	AGC		0.398	ZNF518B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359040.1	NM_053042		21	26	0	0	0	1	0	21	26					T	10445344	C	T	10445344	3	4	435	1	0	0	0	0	1	0	0	0	17960	797	28	3	619	3	ZNF518B	4	10445344	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	608802	10445344	180708932	2249	23174											
CLNK	116449	broad.mit.edu	37	chr4	10515166	10515166	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atattttcgtgagggctgcaGctggctggaggctggcatct	6	12	15	8	1	1	1	0	1	1	0	2	2	1	2	0	5	2	6	0	5	1	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:10515166G>A	ENST00000226951.6	-	16	1067	c.828C>T	c.(826-828)agC>agT	p.S276S	CLNK_ENST00000515667.1_Silent_p.S14S	NM_052964.2	NP_443196.2	Q7Z7G1	CLNK_HUMAN	cytokine-dependent hematopoietic cell linker	276					immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|positive regulation of signal transduction (GO:0009967)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	intracellular (GO:0005622)	SH3/SH2 adaptor activity (GO:0005070)			NS(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(1)	17						GAGGGCTGCAGCTGGCTGGAG	0.478																																					GBM(87;402 1286 6949 13902 35851)	ENST00000226951.6																			0				NS(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(1)	17						c.(826-828)agC>agT		cytokine-dependent hematopoietic cell linker							76	73	74					4																	10515166		1971	4168	6139	SO:0001819	synonymous_variant	116449				immune response|intracellular signal transduction	intracellular	SH3/SH2 adaptor activity	g.chr4:10515166G>A	AB032369	CCDS47024.1	4p16.1	2013-02-14			ENSG00000109684	ENSG00000109684		"SH2 domain containing"	17438	protein-coding gene	gene with protein product	"mast cell immunoreceptor signal transducer"	611434				10562326, 10744659	Standard	NM_052964		Approved	MIST	uc003gmo.4	Q7Z7G1	OTTHUMG00000160062	ENST00000226951.6:c.828C>T	4.37:g.10515166G>A						CLNK_ENST00000515667.1_Silent_p.S14S	p.S276S	NM_052964.2	NP_443196.2	Q7Z7G1	CLNK_HUMAN			16	1067	-			276					Q05C27|Q9P2U9	Silent	SNP	ENST00000226951.6	37	c.828C>T	CCDS47024.1																																																																																				0.478	CLNK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359047.1	NM_052964		6	5	0	0	0	1	0	6	5					A	10515166	G	A	10515166	2	1	435	1	0	0	0	0	0	0	0	1	3547	962	34	3		3	CLNK	4	10515166	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	69822	10515166	180639110	2250	23175											
HS3ST1	9957	broad.mit.edu	37	chr4	11401264	11401264	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	actttgggcgacgtgaaataCgcgggggtcttctccactgt	7	11	13	10	4	2	1	0	1	2	0	3	2	2	1	1	3	1	0	1	3	2	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:11401264C>T	ENST00000002596.5	-	2	1540	c.366G>A	c.(364-366)gcG>gcA	p.A122A		NM_005114.2	NP_005105.1	O14792	HS3S1_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 1	122					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity (GO:0008467)|sulfotransferase activity (GO:0008146)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(6)|skin(3)	15						ACGTGAAATACGCGGGGGTCT	0.612																																						ENST00000002596.5																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(6)|skin(3)	15						c.(364-366)gcG>gcA		heparan sulfate (glucosamine) 3-O-sulfotransferase 1							68	68	68					4																	11401264		2203	4300	6503	SO:0001819	synonymous_variant	9957					Golgi lumen|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity	g.chr4:11401264C>T	AF019386	CCDS3408.1	4p16	2008-02-05			ENSG00000002587	ENSG00000002587	2.8.2.23	"Sulfotransferases, membrane-bound"	5194	protein-coding gene	gene with protein product		603244				9988767	Standard	NM_005114		Approved	3OST1	uc003gmq.3	O14792	OTTHUMG00000090547	ENST00000002596.5:c.366G>A	4.37:g.11401264C>T							p.A122A	NM_005114.2	NP_005105.1	O14792	HS3S1_HUMAN			2	1540	-			122					B3KUA6|Q6PEY8	Silent	SNP	ENST00000002596.5	37	c.366G>A	CCDS3408.1																																																																																				0.612	HS3ST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207073.3	NM_005114		24	34	0	0	0	1	0	24	34					T	11401264	C	T	11401264	2	4	435	1	0	0	0	0	0	0	0	1	7363	523	19	1		1	HS3ST1	4	11401264	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	886098	11401264	179753012	2251	23176											
BOD1L	259282	broad.mit.edu	37	chr4	13615222	13615222	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	caaaagatgaaaggtcactgGtatgaacagagctaactgtg	16	8	11	6	0	1	4	1	2	0	2	1	4	1	4	0	2	3	2	0	2	6	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:13615222G>A	ENST00000040738.5	-	5	1373	c.1238C>T	c.(1237-1239)aCc>aTc	p.T413I		NM_148894.2	NP_683692.2	Q8NFC6	BD1L1_HUMAN	biorientation of chromosomes in cell division 1-like 1	413	Lys-rich.					nucleus (GO:0005634)	DNA binding (GO:0003677)										AAGGTCACTGGTATGAACAGA	0.368																																						ENST00000040738.5																			0											c.(1237-1239)aCc>aTc		biorientation of chromosomes in cell division 1-like 1							115	107	110					4																	13615222		2203	4300	6503	SO:0001583	missense	259282						DNA binding	g.chr4:13615222G>A	AF528529	CCDS3411.2	4p16.1	2012-04-10	2012-04-10	2012-04-10	ENSG00000038219	ENSG00000038219			31792	protein-coding gene	gene with protein product			"family with sequence similarity 44, member A", "biorientation of chromosomes in cell division 1-like"	FAM44A, BOD1L			Standard	XM_005248150		Approved	FLJ33215, KIAA1327	uc003gmz.1	Q8NFC6	OTTHUMG00000090659	ENST00000040738.5:c.1238C>T	4.37:g.13615222G>A	ENSP00000040738:p.Thr413Ile						p.T413I	NM_148894.2	NP_683692.2	Q8NFC6	BOD1L_HUMAN			5	1373	-			413			Lys-rich.		Q6P0M8|Q96AL1|Q9H6G0|Q9NTD6|Q9P2L9	Missense_Mutation	SNP	ENST00000040738.5	37	c.1238C>T	CCDS3411.2	.	.	.	.	.	.	.	.	.	.	G	29.5	5.011402	0.93346	.	.	ENSG00000038219	ENST00000040738	T	0.22336	1.96	5.18	5.18	0.71444	.	0.000000	0.43260	D	0.000589	T	0.48390	0.1497	M	0.70275	2.135	0.51012	D	0.999902	D	0.89917	1.0	D	0.85130	0.997	T	0.46062	-0.9218	10	0.56958	D	0.05	-5.4087	19.0179	0.92901	0.0:0.0:1.0:0.0	.	413	Q8NFC6	BOD1L_HUMAN	I	413	ENSP00000040738:T413I	ENSP00000040738:T413I	T	-	2	0	BOD1L	13224320	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.410000	0.97335	2.573000	0.86826	0.591000	0.81541	ACC		0.368	BOD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207321.1	NM_148894		28	33	0	0	0	1	0	28	33					A	13615222	G	A	13615222	3	1	435	1	0	0	0	0	1	0	0	0	1483	1261	44	3	8005	3	BOD1L	4	13615222	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	2213958	13615222	177539054	2252	23177											
CC2D2A	57545	broad.mit.edu	37	chr4	15602983	15602983	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttgctttagctgtatacataCacccataccccaaaaatgtt	13	13	4	11	0	0	0	0	0	0	0	0	0	0	0	3	0	5	4	3	0	7	8			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:15602983C>T	ENST00000503292.1	+	38	4978	c.4798C>T	c.(4798-4800)Cac>Tac	p.H1600Y	CC2D2A_ENST00000389652.5_Missense_Mutation_p.H1492Y|CC2D2A_ENST00000413206.1_Missense_Mutation_p.H1600Y|CC2D2A_ENST00000424120.1_Missense_Mutation_p.H1600Y	NM_001080522.2	NP_001073991.2	Q9P2K1	C2D2A_HUMAN	coiled-coil and C2 domain containing 2A	1600					cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|smoothened signaling pathway (GO:0007224)	ciliary transition zone (GO:0035869)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|TCTN-B9D complex (GO:0036038)				NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|urinary_tract(2)	32						TGTATACATACACCCATACCC	0.348																																						ENST00000424120.1																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|urinary_tract(2)	32						c.(4798-4800)Cac>Tac		coiled-coil and C2 domain containing 2A							128	118	121					4																	15602983		1856	4101	5957	SO:0001583	missense	57545				cell projection organization	cilium|microtubule basal body		g.chr4:15602983C>T	AB037766, EU450799	CCDS47026.1, CCDS47027.1, CCDS47027.2, CCDS54744.1	4p15.33	2014-09-17	2007-10-19		ENSG00000048342	ENSG00000048342			29253	protein-coding gene	gene with protein product	"Meckel syndrome, type 6"	612013				10718198, 18513680	Standard	NM_001080522		Approved	KIAA1345, MKS6, JBTS9	uc010idv.2	Q9P2K1	OTTHUMG00000160255	ENST00000503292.1:c.4798C>T	4.37:g.15602983C>T	ENSP00000421809:p.His1600Tyr					CC2D2A_ENST00000389652.5_Missense_Mutation_p.H1492Y|CC2D2A_ENST00000503292.1_Missense_Mutation_p.H1600Y|CC2D2A_ENST00000413206.1_Missense_Mutation_p.H1600Y	p.H1600Y			Q9P2K1	C2D2A_HUMAN			37	5052	+			1600					A6ND97|B3FW08|D6RB72|E7EP21|E9PEV5|Q3SYP3|Q9H8A7	Missense_Mutation	SNP	ENST00000503292.1	37	c.4798C>T	CCDS47026.1	.	.	.	.	.	.	.	.	.	.	C	28.1	4.892927	0.91889	.	.	ENSG00000048342	ENST00000424120;ENST00000413206;ENST00000426932;ENST00000510333;ENST00000503292;ENST00000389652	T;T;T;T	0.72167	-0.63;-0.63;-0.63;-0.63	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	D	0.84138	0.5406	M	0.70595	2.14	0.80722	D	1	D;P	0.89917	1.0;0.947	D;D	0.91635	0.999;0.951	T	0.82106	-0.0621	10	0.41790	T	0.15	.	20.181	0.98201	0.0:1.0:0.0:0.0	.	1600;1492	Q9P2K1;Q9P2K1-2	C2D2A_HUMAN;.	Y	1600;1600;1492;1492;1600;1492	ENSP00000403465:H1600Y;ENSP00000398391:H1600Y;ENSP00000421809:H1600Y;ENSP00000374303:H1492Y	ENSP00000374303:H1492Y	H	+	1	0	CC2D2A	15212081	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.156000	0.77453	2.840000	0.97914	0.655000	0.94253	CAC		0.348	CC2D2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359906.2	NM_001080522		4	26	0	0	0	1	0	4	26					T	15602983	C	T	15602983	3	4	435	1	0	0	0	0	1	0	0	0	2728	478	17	3	5143	3	CC2D2A	4	15602983	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	1987761	15602983	175551293	2253	23178											
CLRN2	645104	broad.mit.edu	37	chr4	17516912	17516912	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctggatggttcaaaaaggCgtggtatgggctggcgtctt	7	11	16	7	2	2	0	1	0	1	0	2	1	2	1	1	6	0	3	1	6	3	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:17516912C>T	ENST00000511148.2	+	1	125	c.23C>T	c.(22-24)gCg>gTg	p.A8V		NM_001079827.2	NP_001073296.1	A0PK11	CLRN2_HUMAN	clarin 2	8						integral component of membrane (GO:0016021)				breast(1)|kidney(1)|large_intestine(3)|lung(8)|pancreas(1)|upper_aerodigestive_tract(1)	15						TTCAAAAAGGCGTGGTATGGG	0.542																																						ENST00000511148.2																			0				breast(1)|kidney(1)|large_intestine(3)|lung(8)|pancreas(1)|upper_aerodigestive_tract(1)	15						c.(22-24)gCg>gTg		clarin 2							111	119	116					4																	17516912		2081	4201	6282	SO:0001583	missense	645104					integral to membrane		g.chr4:17516912C>T		CCDS47032.1	4p15.32	2008-01-17			ENSG00000249581	ENSG00000249581			33939	protein-coding gene	gene with protein product						12080385	Standard	NM_001079827		Approved		uc003gpg.1	A0PK11	OTTHUMG00000160273	ENST00000511148.2:c.23C>T	4.37:g.17516912C>T	ENSP00000424711:p.Ala8Val						p.A8V	NM_001079827.2	NP_001073296.1	A0PK11	CLRN2_HUMAN			1	125	+			8						Missense_Mutation	SNP	ENST00000511148.2	37	c.23C>T	CCDS47032.1	.	.	.	.	.	.	.	.	.	.	C	5.818	0.335237	0.11013	.	.	ENSG00000249581	ENST00000511148	T	0.78126	-1.15	5.65	3.55	0.40652	.	0.440896	0.23226	N	0.050514	T	0.45836	0.1362	N	0.01874	-0.695	0.22050	N	0.999393	B	0.02656	0.0	B	0.01281	0.0	T	0.36962	-0.9726	10	0.05959	T	0.93	-5.2623	8.1442	0.31102	0.0:0.7137:0.0:0.2863	.	8	A0PK11	CLRN2_HUMAN	V	8	ENSP00000424711:A8V	ENSP00000424711:A8V	A	+	2	0	CLRN2	17126010	0.235000	0.23794	0.928000	0.36995	0.912000	0.54170	0.164000	0.16542	0.501000	0.28013	0.655000	0.94253	GCG		0.542	CLRN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359990.2	NM_001079827		17	32	0	0	0	1	0	17	32					T	17516912	C	T	17516912	3	4	435	1	0	0	0	0	1	0	0	0	3558	768	27	1	25	1	CLRN2	4	17516912	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	1913929	17516912	173637364	2254	23179											
NCAPG	64151	broad.mit.edu	37	chr4	17838849	17838849	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gttctctgggcttttggtcaGcagcaggattctttctcgtc	4	16	11	10	1	4	0	1	0	3	0	7	1	4	1	0	3	2	4	0	3	0	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:17838849G>T	ENST00000251496.2	+	15	2353	c.2177G>T	c.(2176-2178)aGc>aTc	p.S726I		NM_022346.4	NP_071741.2	Q9BPX3	CND3_HUMAN	non-SMC condensin I complex, subunit G	726					mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	actin cytoskeleton (GO:0015629)|centrosome (GO:0005813)|condensin complex (GO:0000796)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(11)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	27				STAD - Stomach adenocarcinoma(129;0.18)		CTTTTGGTCAGCAGCAGGATT	0.428																																						ENST00000251496.2																			0				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(11)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	27						c.(2176-2178)aGc>aTc		non-SMC condensin I complex, subunit G							163	140	148					4																	17838849		2203	4300	6503	SO:0001583	missense	64151				cell division|mitotic chromosome condensation	condensin complex|cytoplasm|nucleus	protein binding	g.chr4:17838849G>T	AF331796	CCDS3424.1	4p15.32	2014-01-15			ENSG00000109805	ENSG00000109805			24304	protein-coding gene	gene with protein product	"chromosome condensation protein G"	606280				10910072, 11136719	Standard	NM_022346		Approved	FLJ12450, hCAP-G, CAP-G, YCG1	uc003gpp.4	Q9BPX3	OTTHUMG00000128539	ENST00000251496.2:c.2177G>T	4.37:g.17838849G>T	ENSP00000251496:p.Ser726Ile						p.S726I	NM_022346.3	NP_071741.2	Q9BPX3	CND3_HUMAN		STAD - Stomach adenocarcinoma(129;0.18)	15	2353	+			726					Q3MJE0|Q96SV9|Q9BUR3|Q9BVY1|Q9H914|Q9H9Z6|Q9HBI9	Missense_Mutation	SNP	ENST00000251496.2	37	c.2177G>T	CCDS3424.1	.	.	.	.	.	.	.	.	.	.	G	33	5.290724	0.95546	.	.	ENSG00000109805	ENST00000251496	T	0.46819	0.86	5.97	5.97	0.96955	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.73040	0.3536	M	0.81497	2.545	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.74172	-0.3751	10	0.66056	D	0.02	-12.165	20.4209	0.99038	0.0:0.0:1.0:0.0	.	726	Q9BPX3	CND3_HUMAN	I	726	ENSP00000251496:S726I	ENSP00000251496:S726I	S	+	2	0	NCAPG	17447947	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.417000	0.97391	2.823000	0.97156	0.591000	0.81541	AGC		0.428	NCAPG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250375.1	NM_022346		8	66	1	0	0.00448238	1	0.00453641	8	66					T	17838849	G	T	17838849	3	4	435	1	0	0	0	0	1	0	0	0	10207	971	34	5	2235	5	NCAPG	4	17838849	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	321937	17838849	173315427	2255	23180											
SLIT2	9353	broad.mit.edu	37	chr4	20555519	20555519	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ataaggagcctggaattgctCgttgtgctggtcctggagaa	9	11	14	7	1	0	1	0	0	0	1	2	4	1	3	2	4	3	3	2	4	3	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:20555519C>T	ENST00000504154.1	+	26	2905	c.2653C>T	c.(2653-2655)Cgt>Tgt	p.R885C	SLIT2_ENST00000503837.1_Missense_Mutation_p.R881C|SLIT2_ENST00000273739.5_Missense_Mutation_p.R889C|SLIT2_ENST00000503823.1_Missense_Mutation_p.R877C	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	885	LRRCT 4.				apoptotic process involved in luteolysis (GO:0061364)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|branching morphogenesis of an epithelial tube (GO:0048754)|cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to heparin (GO:0071504)|cellular response to hormone stimulus (GO:0032870)|chemorepulsion involved in postnatal olfactory bulb interneuron migration (GO:0021836)|corticospinal neuron axon guidance through spinal cord (GO:0021972)|dorsal/ventral axon guidance (GO:0033563)|in utero embryonic development (GO:0001701)|induction of negative chemotaxis (GO:0050929)|mammary duct terminal end bud growth (GO:0060763)|metanephros development (GO:0001656)|motor neuron axon guidance (GO:0008045)|negative chemotaxis (GO:0050919)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of axon extension (GO:0030517)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cellular response to growth factor stimulus (GO:0090288)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of gene expression (GO:0010629)|negative regulation of lamellipodium assembly (GO:0010593)|negative regulation of leukocyte chemotaxis (GO:0002689)|negative regulation of monocyte chemotaxis (GO:0090027)|negative regulation of mononuclear cell migration (GO:0071676)|negative regulation of neutrophil chemotaxis (GO:0090024)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of retinal ganglion cell axon guidance (GO:0090260)|negative regulation of small GTPase mediated signal transduction (GO:0051058)|negative regulation of smooth muscle cell chemotaxis (GO:0071672)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of vascular permeability (GO:0043116)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axonogenesis (GO:0050772)|response to cortisol (GO:0051414)|retinal ganglion cell axon guidance (GO:0031290)|Roundabout signaling pathway (GO:0035385)|single organismal cell-cell adhesion (GO:0016337)|ureteric bud development (GO:0001657)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|chemorepellent activity (GO:0045499)|GTPase inhibitor activity (GO:0005095)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|laminin-1 binding (GO:0043237)|protein homodimerization activity (GO:0042803)|proteoglycan binding (GO:0043394)|Roundabout binding (GO:0048495)			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						TGGAATTGCTCGTTGTGCTGG	0.408																																						ENST00000504154.1																			0				NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						c.(2653-2655)Cgt>Tgt		slit homolog 2 (Drosophila)							139	131	134					4																	20555519		2203	4300	6503	SO:0001583	missense	9353				apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding	g.chr4:20555519C>T	AF055585	CCDS3426.1, CCDS75110.1, CCDS75111.1	4p15.2	2008-08-01	2001-11-28		ENSG00000145147	ENSG00000145147			11086	protein-coding gene	gene with protein product		603746	"slit (Drosophila) homolog 2"	SLIL3		9813312, 18269211	Standard	XM_005248211		Approved	Slit-2	uc003gpr.1	O94813	OTTHUMG00000128551	ENST00000504154.1:c.2653C>T	4.37:g.20555519C>T	ENSP00000422591:p.Arg885Cys					SLIT2_ENST00000503837.1_Missense_Mutation_p.R881C|SLIT2_ENST00000503823.1_Missense_Mutation_p.R877C|SLIT2_ENST00000273739.5_Missense_Mutation_p.R889C	p.R885C	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN			26	2905	+			885			LRRCT 4.		B7ZLR5|O95710|Q17RU3|Q9Y5Q7	Missense_Mutation	SNP	ENST00000504154.1	37	c.2653C>T	CCDS3426.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.3|20.3	3.966759|3.966759	0.74131|0.74131	.|.	.|.	ENSG00000145147|ENSG00000145147	ENST00000503823;ENST00000504154;ENST00000273739;ENST00000382173;ENST00000503837;ENST00000511508|ENST00000509941	D;D;T;T;D|.	0.90324|.	-1.5;-1.51;-1.42;-1.49;-2.65|.	5.27|5.27	5.27|5.27	0.74061|0.74061	Cysteine-rich flanking region, C-terminal (2);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.84575|0.84575	0.5502|0.5502	M|M	0.92268|0.92268	3.29|3.29	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.91635|.	0.995;0.999|.	D|D	0.87960|0.87960	0.2729|0.2729	10|5	0.62326|.	D|.	0.03|.	.|.	14.1363|14.1363	0.65289|0.65289	0.1501:0.8499:0.0:0.0|0.1501:0.8499:0.0:0.0	.|.	877;885|.	O94813-3;O94813|.	.;SLIT2_HUMAN|.	C|L	877;885;889;881;881;86|15	ENSP00000427548:R877C;ENSP00000422591:R885C;ENSP00000273739:R889C;ENSP00000422261:R881C;ENSP00000421975:R86C|.	ENSP00000273739:R889C|.	R|S	+|+	1|2	0|0	SLIT2|SLIT2	20164617|20164617	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.690000|0.690000	0.40134|0.40134	5.890000|5.890000	0.69774|0.69774	2.633000|2.633000	0.89246|0.89246	0.460000|0.460000	0.39030|0.39030	CGT|TCG		0.408	SLIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250396.2			47	53	0	0	0	1	0	47	53					T	20555519	C	T	20555519	3	4	435	1	0	0	0	0	1	0	0	0	14740	884	31	2	2755	2	SLIT2	4	20555519	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	2716670	20555519	170598757	2256	23181											
SLIT2	9353	broad.mit.edu	37	chr4	20597356	20597356	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gggtacgtaggtgaacactgCgacatcgattttgacgactg	10	10	13	8	4	0	2	0	2	0	0	1	5	0	2	0	2	3	2	0	2	3	4	rs372434910		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:20597356C>T	ENST00000504154.1	+	31	3471	c.3219C>T	c.(3217-3219)tgC>tgT	p.C1073C	SLIT2_ENST00000503837.1_Silent_p.C1069C|SLIT2_ENST00000273739.5_Silent_p.C1086C|SLIT2_ENST00000503823.1_Silent_p.C1065C	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	1073	EGF-like 4. {ECO:0000255|PROSITE- ProRule:PRU00076}.				apoptotic process involved in luteolysis (GO:0061364)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|branching morphogenesis of an epithelial tube (GO:0048754)|cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to heparin (GO:0071504)|cellular response to hormone stimulus (GO:0032870)|chemorepulsion involved in postnatal olfactory bulb interneuron migration (GO:0021836)|corticospinal neuron axon guidance through spinal cord (GO:0021972)|dorsal/ventral axon guidance (GO:0033563)|in utero embryonic development (GO:0001701)|induction of negative chemotaxis (GO:0050929)|mammary duct terminal end bud growth (GO:0060763)|metanephros development (GO:0001656)|motor neuron axon guidance (GO:0008045)|negative chemotaxis (GO:0050919)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of axon extension (GO:0030517)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cellular response to growth factor stimulus (GO:0090288)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of gene expression (GO:0010629)|negative regulation of lamellipodium assembly (GO:0010593)|negative regulation of leukocyte chemotaxis (GO:0002689)|negative regulation of monocyte chemotaxis (GO:0090027)|negative regulation of mononuclear cell migration (GO:0071676)|negative regulation of neutrophil chemotaxis (GO:0090024)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of retinal ganglion cell axon guidance (GO:0090260)|negative regulation of small GTPase mediated signal transduction (GO:0051058)|negative regulation of smooth muscle cell chemotaxis (GO:0071672)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of vascular permeability (GO:0043116)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axonogenesis (GO:0050772)|response to cortisol (GO:0051414)|retinal ganglion cell axon guidance (GO:0031290)|Roundabout signaling pathway (GO:0035385)|single organismal cell-cell adhesion (GO:0016337)|ureteric bud development (GO:0001657)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|chemorepellent activity (GO:0045499)|GTPase inhibitor activity (GO:0005095)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|laminin-1 binding (GO:0043237)|protein homodimerization activity (GO:0042803)|proteoglycan binding (GO:0043394)|Roundabout binding (GO:0048495)			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						GTGAACACTGCGACATCGATT	0.463																																						ENST00000504154.1																			0				NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						c.(3217-3219)tgC>tgT		slit homolog 2 (Drosophila)		T		0,4406		0,0,2203	220	203	209		3219	-1.4	1	4		209	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	SLIT2	NM_004787.1		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		1073/1530	20597356	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	9353				apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding	g.chr4:20597356C>T	AF055585	CCDS3426.1, CCDS75110.1, CCDS75111.1	4p15.2	2008-08-01	2001-11-28		ENSG00000145147	ENSG00000145147			11086	protein-coding gene	gene with protein product		603746	"slit (Drosophila) homolog 2"	SLIL3		9813312, 18269211	Standard	XM_005248211		Approved	Slit-2	uc003gpr.1	O94813	OTTHUMG00000128551	ENST00000504154.1:c.3219C>T	4.37:g.20597356C>T						SLIT2_ENST00000503837.1_Silent_p.C1069C|SLIT2_ENST00000503823.1_Silent_p.C1065C|SLIT2_ENST00000273739.5_Silent_p.C1086C	p.C1073C	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN			31	3471	+			1073			EGF-like 4.		B7ZLR5|O95710|Q17RU3|Q9Y5Q7	Silent	SNP	ENST00000504154.1	37	c.3219C>T	CCDS3426.1																																																																																				0.463	SLIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250396.2			6	96	0	0	0	1	0	6	96					T	20597356	C	T	20597356	2	4	435	1	0	0	0	0	0	0	0	1	14740	776	27	1		1	SLIT2	4	20597356	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	41837	20597356	170556920	2257	23182											
SLIT2	9353	broad.mit.edu	37	chr4	20598243	20598243	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttatcttcagattccttcaGccaaggttcggcctcagacg	8	12	8	13	2	4	2	3	0	1	2	6	2	5	2	3	2	1	1	3	2	2	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:20598243G>A	ENST00000504154.1	+	32	3778	c.3526G>A	c.(3526-3528)Gcc>Acc	p.A1176T	SLIT2_ENST00000503837.1_Missense_Mutation_p.A1172T|SLIT2_ENST00000273739.5_Missense_Mutation_p.A1189T|SLIT2_ENST00000503823.1_Missense_Mutation_p.A1168T	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	1176	Laminin G-like. {ECO:0000255|PROSITE- ProRule:PRU00122}.				apoptotic process involved in luteolysis (GO:0061364)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|branching morphogenesis of an epithelial tube (GO:0048754)|cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to heparin (GO:0071504)|cellular response to hormone stimulus (GO:0032870)|chemorepulsion involved in postnatal olfactory bulb interneuron migration (GO:0021836)|corticospinal neuron axon guidance through spinal cord (GO:0021972)|dorsal/ventral axon guidance (GO:0033563)|in utero embryonic development (GO:0001701)|induction of negative chemotaxis (GO:0050929)|mammary duct terminal end bud growth (GO:0060763)|metanephros development (GO:0001656)|motor neuron axon guidance (GO:0008045)|negative chemotaxis (GO:0050919)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of axon extension (GO:0030517)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cellular response to growth factor stimulus (GO:0090288)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of gene expression (GO:0010629)|negative regulation of lamellipodium assembly (GO:0010593)|negative regulation of leukocyte chemotaxis (GO:0002689)|negative regulation of monocyte chemotaxis (GO:0090027)|negative regulation of mononuclear cell migration (GO:0071676)|negative regulation of neutrophil chemotaxis (GO:0090024)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of retinal ganglion cell axon guidance (GO:0090260)|negative regulation of small GTPase mediated signal transduction (GO:0051058)|negative regulation of smooth muscle cell chemotaxis (GO:0071672)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of vascular permeability (GO:0043116)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axonogenesis (GO:0050772)|response to cortisol (GO:0051414)|retinal ganglion cell axon guidance (GO:0031290)|Roundabout signaling pathway (GO:0035385)|single organismal cell-cell adhesion (GO:0016337)|ureteric bud development (GO:0001657)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|chemorepellent activity (GO:0045499)|GTPase inhibitor activity (GO:0005095)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|laminin-1 binding (GO:0043237)|protein homodimerization activity (GO:0042803)|proteoglycan binding (GO:0043394)|Roundabout binding (GO:0048495)			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						GATTCCTTCAGCCAAGGTTCG	0.388																																						ENST00000504154.1																			0				NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						c.(3526-3528)Gcc>Acc		slit homolog 2 (Drosophila)							72	72	72					4																	20598243		2203	4300	6503	SO:0001583	missense	9353				apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding	g.chr4:20598243G>A	AF055585	CCDS3426.1, CCDS75110.1, CCDS75111.1	4p15.2	2008-08-01	2001-11-28		ENSG00000145147	ENSG00000145147			11086	protein-coding gene	gene with protein product		603746	"slit (Drosophila) homolog 2"	SLIL3		9813312, 18269211	Standard	XM_005248211		Approved	Slit-2	uc003gpr.1	O94813	OTTHUMG00000128551	ENST00000504154.1:c.3526G>A	4.37:g.20598243G>A	ENSP00000422591:p.Ala1176Thr					SLIT2_ENST00000503837.1_Missense_Mutation_p.A1172T|SLIT2_ENST00000503823.1_Missense_Mutation_p.A1168T|SLIT2_ENST00000273739.5_Missense_Mutation_p.A1189T	p.A1176T	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN			32	3778	+			1176			Laminin G-like.		B7ZLR5|O95710|Q17RU3|Q9Y5Q7	Missense_Mutation	SNP	ENST00000504154.1	37	c.3526G>A	CCDS3426.1	.	.	.	.	.	.	.	.	.	.	G	8.475	0.858340	0.17178	.	.	ENSG00000145147	ENST00000503823;ENST00000504154;ENST00000273739;ENST00000382173;ENST00000503837	T;T;T;T	0.68765	-0.35;-0.35;-0.35;-0.35	6.17	4.45	0.53987	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (1);	0.366784	0.35555	N	0.003136	T	0.40372	0.1114	N	0.03016	-0.435	0.43890	D	0.996512	B;B	0.12013	0.005;0.001	B;B	0.12156	0.007;0.001	T	0.26538	-1.0100	10	0.20519	T	0.43	.	12.3612	0.55205	0.1339:0.0:0.8661:0.0	.	1168;1176	O94813-3;O94813	.;SLIT2_HUMAN	T	1168;1176;1189;1172;1172	ENSP00000427548:A1168T;ENSP00000422591:A1176T;ENSP00000273739:A1189T;ENSP00000422261:A1172T	ENSP00000273739:A1189T	A	+	1	0	SLIT2	20207341	0.299000	0.24426	0.959000	0.39883	0.461000	0.32589	1.970000	0.40520	1.631000	0.50456	0.655000	0.94253	GCC		0.388	SLIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250396.2			18	19	0	0	0	1	0	18	19					A	20598243	G	A	20598243	3	1	435	1	0	0	0	0	1	0	0	0	14740	971	34	3	3652	3	SLIT2	4	20598243	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	887	20598243	170556033	2258	23183											
PACRGL	133015	broad.mit.edu	37	chr4	20715073	20715073	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggtccattcggatgatgaaGtgtttgaaagaggattgaat	13	12	13	3	1	0	5	0	4	0	1	2	7	1	7	1	3	0	1	1	3	3	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:20715073G>A	ENST00000503585.1	+	7	911	c.520G>A	c.(520-522)Gtg>Atg	p.V174M	PACRGL_ENST00000502938.1_Intron|PACRGL_ENST00000360916.5_Missense_Mutation_p.V174M|PACRGL_ENST00000538990.1_Missense_Mutation_p.V76M|PACRGL_ENST00000507634.1_Missense_Mutation_p.V174M|PACRGL_ENST00000513459.1_Missense_Mutation_p.V121M|PACRGL_ENST00000295290.8_Missense_Mutation_p.V174M|PACRGL_ENST00000444671.2_Missense_Mutation_p.V76M|PACRGL_ENST00000502374.1_Missense_Mutation_p.V121M	NM_001258345.1	NP_001245274.1	Q8N7B6	PACRL_HUMAN	PARK2 co-regulated-like	174										endometrium(2)|lung(7)|prostate(1)	10						GGATGATGAAGTGTTTGAAAG	0.428																																						ENST00000360916.5																			0				endometrium(2)|lung(7)|prostate(1)	10						c.(520-522)Gtg>Atg		PARK2 co-regulated-like							231	192	206					4																	20715073		2203	4300	6503	SO:0001583	missense	133015						binding	g.chr4:20715073G>A	AK098692	CCDS3427.1, CCDS47034.1, CCDS58895.1, CCDS58896.1	4p15.31	2008-10-02	2008-10-02	2008-10-02	ENSG00000163138	ENSG00000163138			28442	protein-coding gene	gene with protein product			"chromosome 4 open reading frame 28"	C4orf28		12477932	Standard	NM_145048		Approved	MGC29898	uc010iek.3	Q8N7B6	OTTHUMG00000128550	ENST00000503585.1:c.520G>A	4.37:g.20715073G>A	ENSP00000423881:p.Val174Met					PACRGL_ENST00000503585.1_Missense_Mutation_p.V174M|PACRGL_ENST00000502938.1_Intron|PACRGL_ENST00000507634.1_Missense_Mutation_p.V174M|PACRGL_ENST00000538990.1_Missense_Mutation_p.V76M|PACRGL_ENST00000502374.1_Missense_Mutation_p.V121M|PACRGL_ENST00000444671.2_Missense_Mutation_p.V76M|PACRGL_ENST00000513459.1_Missense_Mutation_p.V121M|PACRGL_ENST00000295290.8_Missense_Mutation_p.V174M	p.V174M	NM_145048.3	NP_659485.1	Q8N7B6	PACRL_HUMAN			7	911	+			174					B2RDB9|B4DFF8|B4DMN7|Q8TBA8	Missense_Mutation	SNP	ENST00000503585.1	37	c.520G>A	CCDS58895.1	.	.	.	.	.	.	.	.	.	.	G	24.7	4.559533	0.86335	.	.	ENSG00000163138	ENST00000510051;ENST00000503585;ENST00000360916;ENST00000295290;ENST00000444671;ENST00000515339;ENST00000513861;ENST00000502374;ENST00000538990;ENST00000513590;ENST00000514292;ENST00000507634;ENST00000513459;ENST00000511089	T;T;T;T;T;T;T;T;T;T	0.73152	3.3;-0.72;3.3;3.3;0.69;3.3;3.3;3.3;3.3;3.3	5.88	5.88	0.94601	Armadillo-like helical (1);Armadillo-type fold (1);	0.077714	0.53938	D	0.000055	D	0.85843	0.5791	M	0.81942	2.565	0.35820	D	0.824509	D;D;D;D;D;D	0.89917	0.999;0.999;0.999;1.0;1.0;0.999	D;D;D;D;D;D	0.79784	0.993;0.986;0.972;0.988;0.987;0.976	D	0.88908	0.3357	10	0.72032	D	0.01	-13.8708	20.2228	0.98330	0.0:0.0:1.0:0.0	.	121;174;222;76;121;174	B4DFF8;Q8N7B6;D6R9N9;B4DMN7;D6RGK2;Q8N7B6-2	.;PACRL_HUMAN;.;.;.;.	M	222;174;174;174;76;76;121;121;76;174;76;174;121;121	ENSP00000423499:V222M;ENSP00000423881:V174M;ENSP00000354171:V174M;ENSP00000295290:V174M;ENSP00000422394:V121M;ENSP00000425461:V121M;ENSP00000422425:V174M;ENSP00000425938:V174M;ENSP00000426286:V121M;ENSP00000421687:V121M	ENSP00000295290:V174M	V	+	1	0	PACRGL	20324171	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.083000	0.76859	2.789000	0.95967	0.655000	0.94253	GTG		0.428	PACRGL-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360321.2	NM_145048		18	24	0	0	0	1	0	18	24					A	20715073	G	A	20715073	3	1	435	1	0	0	0	0	1	0	0	0	11371	1029	36	3	542	3	PACRGL	4	20715073	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	116830	20715073	170439203	2259	23184											
GBA3	57733	broad.mit.edu	37	chr4	22737812	22737812	+	RNA	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgttacctgatgggacgacAggtttcatcaaccagaaagg	12	9	11	9	1	2	2	2	1	0	1	2	4	2	3	2	3	2	2	2	3	3	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:22737812A>G	ENST00000503442.1	+	0	358				GBA3_ENST00000511446.2_RNA|GBA3_ENST00000508166.1_RNA	NM_001128432.2	NP_001121904.1	Q9H227	GBA3_HUMAN	glucosidase, beta, acid 3 (gene/pseudogene)						carbohydrate metabolic process (GO:0005975)|glycoside catabolic process (GO:0016139)|glycosphingolipid metabolic process (GO:0006687)|glycosylceramide catabolic process (GO:0046477)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	cytosol (GO:0005829)	beta-galactosidase activity (GO:0004565)|beta-glucosidase activity (GO:0008422)|glycosylceramidase activity (GO:0017042)			breast(1)|kidney(2)|large_intestine(4)|lung(20)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						ATGGGACGACAGGTTTCATCA	0.413																																						ENST00000511446.1																			0				breast(1)|kidney(2)|large_intestine(4)|lung(20)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33								glucosidase, beta, acid 3 (gene/pseudogene)							128	125	126					4																	22737812		1864	4110	5974			57733				glycoside catabolic process|glycosylceramide catabolic process	cytosol	beta-galactosidase activity|beta-glucosidase activity|cation binding|glycosylceramidase activity	g.chr4:22737812A>G	AB017913		4p15.2	2013-05-09	2013-05-09		ENSG00000249948	ENSG00000249948	3.2.1.21		19069	protein-coding gene	gene with protein product	"klotho-related protein"	606619	"glucosidase, beta, acid 3 (cytosolic)"			11389701	Standard	NM_020973		Approved	GLUC, KLrP	uc031sdv.1	Q9H227	OTTHUMG00000160448		4.37:g.22737812A>G						GBA3_ENST00000503442.1_RNA|GBA3_ENST00000508166.1_RNA		NM_001277225.1	NP_001264154.1	Q9H227	GBA3_HUMAN			0	270	+								Q32LY7|Q3MIH4|Q53GG8|Q6NSF4|Q8NHT8|Q9H3T4|Q9H4C6	RNA	SNP	ENST00000503442.1	37																																																																																						0.413	GBA3-003	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000360620.2			48	43	0	0	0	1	0	48	43					G	22737812	A	G	22737812	1	3	435	0	1	0	0	0	0	0	0	0	6268	175	7	4		4	GBA3	4	22737812	RNA	SNP	A	TCGA-XK-AAIW-01A-11D-A41K-08	2022739	22737812	168416464	2260	23185											
PPARGC1A	10891	broad.mit.edu	37	chr4	23803961	23803961	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taccgacataaatcacacggCgctcttcctatggggggaag	11	8	11	11	3	2	0	1	0	1	0	3	2	3	1	2	4	1	1	2	4	5	4	rs143962880		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:23803961C>T	ENST00000264867.2	-	11	2146	c.2027G>A	c.(2026-2028)cGc>cAc	p.R676H	PPARGC1A_ENST00000509702.1_5'UTR	NM_013261.3	NP_037393.1	Q9UBK2	PRGC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator 1 alpha	676	Mediates interaction with RNF34. {ECO:0000269|PubMed:22064484}.				androgen metabolic process (GO:0008209)|androgen receptor signaling pathway (GO:0030521)|brown fat cell differentiation (GO:0050873)|cellular glucose homeostasis (GO:0001678)|cellular respiration (GO:0045333)|cellular response to fatty acid (GO:0071398)|cellular response to hypoxia (GO:0071456)|cellular response to nitrite (GO:0071250)|cellular response to oxidative stress (GO:0034599)|cellular response to thyroid hormone stimulus (GO:0097067)|cellular response to tumor necrosis factor (GO:0071356)|circadian regulation of gene expression (GO:0032922)|digestion (GO:0007586)|fatty acid oxidation (GO:0019395)|flavone metabolic process (GO:0051552)|galactose metabolic process (GO:0006012)|gluconeogenesis (GO:0006094)|mitochondrion organization (GO:0007005)|mRNA processing (GO:0006397)|negative regulation of glycolytic process (GO:0045820)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of neuron death (GO:1901215)|negative regulation of receptor activity (GO:2000272)|positive regulation of ATP biosynthetic process (GO:2001171)|positive regulation of cellular respiration (GO:1901857)|positive regulation of energy homeostasis (GO:2000507)|positive regulation of fatty acid oxidation (GO:0046321)|positive regulation of gluconeogenesis (GO:0045722)|positive regulation of histone acetylation (GO:0035066)|positive regulation of mitochondrial DNA metabolic process (GO:1901860)|positive regulation of mitochondrion organization (GO:0010822)|positive regulation of muscle tissue development (GO:1901863)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein stabilization (GO:0050821)|regulation of circadian rhythm (GO:0042752)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of transcription, DNA-templated (GO:0006355)|respiratory electron transport chain (GO:0022904)|response to cold (GO:0009409)|response to epinephrine (GO:0071871)|response to leucine (GO:0043201)|response to muscle activity (GO:0014850)|response to norepinephrine (GO:0071873)|response to starvation (GO:0042594)|response to statin (GO:0036273)|RNA splicing (GO:0008380)|temperature homeostasis (GO:0001659)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytosol (GO:0005829)|DNA-directed RNA polymerase II, core complex (GO:0005665)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin DNA binding (GO:0031490)|DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)|RNA polymerase II transcription cofactor activity (GO:0001104)|sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|liver(1)|lung(24)|ovary(3)|skin(5)	51		Breast(46;0.0503)				AATCACACGGCGCTCTTCCTA	0.502																																					Esophageal Squamous(29;694 744 13796 34866 44181)	ENST00000264867.2																			0				central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|liver(1)|lung(24)|ovary(3)|skin(5)	51						c.(2026-2028)cGc>cAc		peroxisome proliferator-activated receptor gamma, coactivator 1 alpha			HIS/ARG	0,4406		0,0,2203	86	86	86		2027	5.2	1	4	dbSNP_134	86	2,8598	2.2+/-6.3	0,2,4298	no	missense	PPARGC1A	NM_013261.3	29	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	benign	676/799	23803961	2,13004	2203	4300	6503	SO:0001583	missense	10891				androgen receptor signaling pathway|brown fat cell differentiation|cellular glucose homeostasis|digestion|fatty acid oxidation|gluconeogenesis|mitochondrion organization|mRNA processing|neuron death|positive regulation of fatty acid oxidation|positive regulation of gluconeogenesis|positive regulation of histone acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|protein complex assembly|protein stabilization|response to muscle activity|response to starvation|RNA splicing|temperature homeostasis|transcription initiation from RNA polymerase II promoter	DNA-directed RNA polymerase II, core complex	androgen receptor binding|DNA binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|RNA binding|RNA polymerase II transcription cofactor activity|transcription factor binding	g.chr4:23803961C>T	AF106698	CCDS3429.1	4p15.1	2013-02-12	2006-10-17	2004-02-04	ENSG00000109819	ENSG00000109819		"RNA binding motif (RRM) containing"	9237	protein-coding gene	gene with protein product		604517	"peroxisome proliferative activated receptor, gamma, coactivator 1", "peroxisome proliferative activated receptor, gamma, coactivator 1, alpha"	PPARGC1		10585775	Standard	NM_013261		Approved	PGC1, PGC1A	uc003gqs.3	Q9UBK2	OTTHUMG00000097747	ENST00000264867.2:c.2027G>A	4.37:g.23803961C>T	ENSP00000264867:p.Arg676His					PPARGC1A_ENST00000509702.1_5'UTR	p.R676H	NM_013261.3	NP_037393.1	Q9UBK2	PRGC1_HUMAN			11	2146	-		Breast(46;0.0503)	676					B7Z406|G8DM16|I3RTT5|I3RTT6|I3RTT7|I3RTT8|I3RTT9|Q3LIG1|Q4W5M7|Q9UN32	Missense_Mutation	SNP	ENST00000264867.2	37	c.2027G>A	CCDS3429.1	.	.	.	.	.	.	.	.	.	.	c	13.52	2.260615	0.39995	0.0	2.33E-4	ENSG00000109819	ENST00000264867	T	0.51071	0.72	5.16	5.16	0.70880	Nucleotide-binding, alpha-beta plait (1);	0.048278	0.85682	D	0.000000	T	0.38612	0.1047	L	0.43598	1.365	0.80722	D	1	B	0.11235	0.004	B	0.06405	0.002	T	0.22941	-1.0202	10	0.45353	T	0.12	-6.0847	9.7361	0.40388	0.0:0.8451:0.0:0.1549	.	676	Q9UBK2	PRGC1_HUMAN	H	676	ENSP00000264867:R676H	ENSP00000264867:R676H	R	-	2	0	PPARGC1A	23413059	1.000000	0.71417	1.000000	0.80357	0.823000	0.46562	3.794000	0.55492	2.582000	0.87167	0.457000	0.33378	CGC		0.502	PPARGC1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214976.1	NM_013261		30	45	0	0	0	1	0	30	45					T	23803961	C	T	23803961	3	4	435	1	0	0	0	0	1	0	0	0	12300	768	27	1	381	1	PPARGC1A	4	23803961	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	1066149	23803961	167350315	2261	23186											
PPARGC1A	10891	broad.mit.edu	37	chr4	23830129	23830129	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttggtgtgaggagggtcatcGtttgtggtcagatatttgag	7	15	16	3	1	2	3	2	2	0	1	3	4	2	4	0	4	0	1	0	4	1	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:23830129G>A	ENST00000264867.2	-	5	770	c.651C>T	c.(649-651)aaC>aaT	p.N217N	PPARGC1A_ENST00000509702.1_5'UTR	NM_013261.3	NP_037393.1	Q9UBK2	PRGC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator 1 alpha	217					androgen metabolic process (GO:0008209)|androgen receptor signaling pathway (GO:0030521)|brown fat cell differentiation (GO:0050873)|cellular glucose homeostasis (GO:0001678)|cellular respiration (GO:0045333)|cellular response to fatty acid (GO:0071398)|cellular response to hypoxia (GO:0071456)|cellular response to nitrite (GO:0071250)|cellular response to oxidative stress (GO:0034599)|cellular response to thyroid hormone stimulus (GO:0097067)|cellular response to tumor necrosis factor (GO:0071356)|circadian regulation of gene expression (GO:0032922)|digestion (GO:0007586)|fatty acid oxidation (GO:0019395)|flavone metabolic process (GO:0051552)|galactose metabolic process (GO:0006012)|gluconeogenesis (GO:0006094)|mitochondrion organization (GO:0007005)|mRNA processing (GO:0006397)|negative regulation of glycolytic process (GO:0045820)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of neuron death (GO:1901215)|negative regulation of receptor activity (GO:2000272)|positive regulation of ATP biosynthetic process (GO:2001171)|positive regulation of cellular respiration (GO:1901857)|positive regulation of energy homeostasis (GO:2000507)|positive regulation of fatty acid oxidation (GO:0046321)|positive regulation of gluconeogenesis (GO:0045722)|positive regulation of histone acetylation (GO:0035066)|positive regulation of mitochondrial DNA metabolic process (GO:1901860)|positive regulation of mitochondrion organization (GO:0010822)|positive regulation of muscle tissue development (GO:1901863)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein stabilization (GO:0050821)|regulation of circadian rhythm (GO:0042752)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of transcription, DNA-templated (GO:0006355)|respiratory electron transport chain (GO:0022904)|response to cold (GO:0009409)|response to epinephrine (GO:0071871)|response to leucine (GO:0043201)|response to muscle activity (GO:0014850)|response to norepinephrine (GO:0071873)|response to starvation (GO:0042594)|response to statin (GO:0036273)|RNA splicing (GO:0008380)|temperature homeostasis (GO:0001659)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytosol (GO:0005829)|DNA-directed RNA polymerase II, core complex (GO:0005665)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin DNA binding (GO:0031490)|DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)|RNA polymerase II transcription cofactor activity (GO:0001104)|sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|liver(1)|lung(24)|ovary(3)|skin(5)	51		Breast(46;0.0503)				GAGGGTCATCGTTTGTGGTCA	0.468																																					Esophageal Squamous(29;694 744 13796 34866 44181)	ENST00000264867.2																			0				central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|liver(1)|lung(24)|ovary(3)|skin(5)	51						c.(649-651)aaC>aaT		peroxisome proliferator-activated receptor gamma, coactivator 1 alpha							381	346	357					4																	23830129		2203	4300	6503	SO:0001819	synonymous_variant	10891				androgen receptor signaling pathway|brown fat cell differentiation|cellular glucose homeostasis|digestion|fatty acid oxidation|gluconeogenesis|mitochondrion organization|mRNA processing|neuron death|positive regulation of fatty acid oxidation|positive regulation of gluconeogenesis|positive regulation of histone acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|protein complex assembly|protein stabilization|response to muscle activity|response to starvation|RNA splicing|temperature homeostasis|transcription initiation from RNA polymerase II promoter	DNA-directed RNA polymerase II, core complex	androgen receptor binding|DNA binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|RNA binding|RNA polymerase II transcription cofactor activity|transcription factor binding	g.chr4:23830129G>A	AF106698	CCDS3429.1	4p15.1	2013-02-12	2006-10-17	2004-02-04	ENSG00000109819	ENSG00000109819		"RNA binding motif (RRM) containing"	9237	protein-coding gene	gene with protein product		604517	"peroxisome proliferative activated receptor, gamma, coactivator 1", "peroxisome proliferative activated receptor, gamma, coactivator 1, alpha"	PPARGC1		10585775	Standard	NM_013261		Approved	PGC1, PGC1A	uc003gqs.3	Q9UBK2	OTTHUMG00000097747	ENST00000264867.2:c.651C>T	4.37:g.23830129G>A						PPARGC1A_ENST00000509702.1_5'UTR	p.N217N	NM_013261.3	NP_037393.1	Q9UBK2	PRGC1_HUMAN			5	770	-		Breast(46;0.0503)	217					B7Z406|G8DM16|I3RTT5|I3RTT6|I3RTT7|I3RTT8|I3RTT9|Q3LIG1|Q4W5M7|Q9UN32	Silent	SNP	ENST00000264867.2	37	c.651C>T	CCDS3429.1																																																																																				0.468	PPARGC1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214976.1	NM_013261		20	109	0	0	0	1	0	20	109					A	23830129	G	A	23830129	2	1	435	1	0	0	0	0	0	0	0	1	12300	1136	40	1		1	PPARGC1A	4	23830129	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	26168	23830129	167324147	2262	23187											
DHX15	1665	broad.mit.edu	37	chr4	24544563	24544563	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agtatccactaaatatgtacCttctgtttcgcaaatccagg	12	13	6	10	1	1	0	0	0	1	0	4	0	3	0	3	1	1	4	3	1	6	6			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:24544563C>T	ENST00000336812.4	-	7	1491	c.1335G>A	c.(1333-1335)aaG>aaA	p.K445K		NM_001358.2	NP_001349.2	O43143	DHX15_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 15	445	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)|U12-type spliceosomal complex (GO:0005689)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724)			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	30		Breast(46;0.0503)				AAATATGTACCTTCTGTTTCG	0.328																																						ENST00000336812.4																			0				breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	30						c.e7+1		DEAH (Asp-Glu-Ala-His) box helicase 15							112	105	108					4																	24544563		2203	4300	6503	SO:0001630	splice_region_variant	1665				mRNA processing	U12-type spliceosomal complex	ATP binding|ATP-dependent helicase activity|nucleic acid binding|RNA helicase activity	g.chr4:24544563C>T	AB001636	CCDS33966.1	4p15.3	2013-05-13	2013-05-13	2003-06-20	ENSG00000109606	ENSG00000109606		"DEAH-boxes"	2738	protein-coding gene	gene with protein product		603403	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 15", "DEAH (Asp-Glu-Ala-His) box polypeptide 15"	DDX15		9388478	Standard	NM_001358		Approved	HRH2, DBP1, PRP43, PrPp43p, PRPF43	uc003gqx.3	O43143	OTTHUMG00000160304	ENST00000336812.4:c.1335+1G>A	4.37:g.24544563C>T							p.K445_splice	NM_001358.2	NP_001349.2	O43143	DHX15_HUMAN			7	1491	-		Breast(46;0.0503)	445			Helicase C-terminal.		Q9NQT7	Splice_Site	SNP	ENST00000336812.4	37	c.1335_splice	CCDS33966.1																																																																																				0.328	DHX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360143.1	NM_001358	Silent	21	44	0	0	0	1	0	21	44					T	24544563	C	T	24544563	5	4	435	1	0	0	0	0	0	0	1	0	4501	695	24	3	1084	3	DHX15	4	24544563	Splice_Site	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	714434	24544563	166609713	2263	23188											
DHX15	1665	broad.mit.edu	37	chr4	24578054	24578054	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtggaagtgacgtgtgacCtgcatgtccggcatgcgttg	6	11	15	9	3	0	2	0	2	0	0	1	3	1	3	2	2	2	3	2	2	1	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:24578054C>A	ENST00000336812.4	-	2	475	c.319G>T	c.(319-321)Ggt>Tgt	p.G107C		NM_001358.2	NP_001349.2	O43143	DHX15_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 15	107					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)|U12-type spliceosomal complex (GO:0005689)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724)			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	30		Breast(46;0.0503)				GACGTGTGACCTGCATGTCCG	0.458																																						ENST00000336812.4																			0				breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	30						c.(319-321)Ggt>Tgt		DEAH (Asp-Glu-Ala-His) box helicase 15							301	282	288					4																	24578054		2203	4300	6503	SO:0001583	missense	1665				mRNA processing	U12-type spliceosomal complex	ATP binding|ATP-dependent helicase activity|nucleic acid binding|RNA helicase activity	g.chr4:24578054C>A	AB001636	CCDS33966.1	4p15.3	2013-05-13	2013-05-13	2003-06-20	ENSG00000109606	ENSG00000109606		"DEAH-boxes"	2738	protein-coding gene	gene with protein product		603403	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 15", "DEAH (Asp-Glu-Ala-His) box polypeptide 15"	DDX15		9388478	Standard	NM_001358		Approved	HRH2, DBP1, PRP43, PrPp43p, PRPF43	uc003gqx.3	O43143	OTTHUMG00000160304	ENST00000336812.4:c.319G>T	4.37:g.24578054C>A	ENSP00000336741:p.Gly107Cys						p.G107C	NM_001358.2	NP_001349.2	O43143	DHX15_HUMAN			2	475	-		Breast(46;0.0503)	107					Q9NQT7	Missense_Mutation	SNP	ENST00000336812.4	37	c.319G>T	CCDS33966.1	.	.	.	.	.	.	.	.	.	.	C	16.90	3.250636	0.59212	.	.	ENSG00000109606	ENST00000336812;ENST00000535946	T	0.09817	2.94	5.43	4.58	0.56647	.	0.106801	0.42053	D	0.000763	T	0.04998	0.0134	N	0.08118	0	0.38387	D	0.945288	D	0.56746	0.977	B	0.36989	0.238	T	0.35226	-0.9797	10	0.59425	D	0.04	-19.5934	10.6151	0.45445	0.0:0.909:0.0:0.091	.	107	O43143	DHX15_HUMAN	C	107;96	ENSP00000336741:G107C	ENSP00000336741:G107C	G	-	1	0	DHX15	24187152	0.997000	0.39634	1.000000	0.80357	0.828000	0.46876	0.979000	0.29500	2.546000	0.85860	0.655000	0.94253	GGT		0.458	DHX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360143.1	NM_001358		38	60	1	0	1.30015e-28	1	1.45562e-28	38	60					A	24578054	C	A	24578054	3	1	435	1	0	0	0	0	1	0	0	0	4501	681	24	5	2120	5	DHX15	4	24578054	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	33491	24578054	166576222	2264	23189											
ZCCHC4	29063	broad.mit.edu	37	chr4	25363868	25363868	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	attttgctctccgtgtcaacGgtatgtttctctagagaatc	8	16	8	9	2	3	1	1	0	2	1	6	2	3	1	1	1	2	3	1	1	4	5	rs368674649		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:25363868G>A	ENST00000302874.4	+	10	1178	c.1154G>A	c.(1153-1155)cGg>cAg	p.R385Q		NM_024936.2	NP_079212.2	Q9H5U6	ZCHC4_HUMAN	zinc finger, CCHC domain containing 4	385							methyltransferase activity (GO:0008168)|nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|pancreas(1)	9		Breast(46;0.0503)				CCGTGTCAACGGTATGTTTCT	0.333																																						ENST00000302874.4																			0				endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|pancreas(1)	9						c.(1153-1155)cGg>cAg		zinc finger, CCHC domain containing 4		G	GLN/ARG	0,3696		0,0,1848	112	105	107		1154	5.9	1	4		107	1,8183		0,1,4091	no	missense	ZCCHC4	NM_024936.2	43	0,1,5939	AA,AG,GG		0.0122,0.0,0.0084	possibly-damaging	385/514	25363868	1,11879	1848	4092	5940	SO:0001583	missense	29063						methyltransferase activity|nucleic acid binding|zinc ion binding	g.chr4:25363868G>A	AF161537	CCDS43218.1	4p15.31	2014-02-18			ENSG00000168228	ENSG00000168228		"Zinc fingers, CCHC domain containing"	22917	protein-coding gene	gene with protein product	"zinc finger, GRF-type containing 4"	611792				11042152	Standard	NM_024936		Approved	HSPC052, FLJ23024, ZGRF4	uc003grl.4	Q9H5U6	OTTHUMG00000160563	ENST00000302874.4:c.1154G>A	4.37:g.25363868G>A	ENSP00000303468:p.Arg385Gln						p.R385Q	NM_024936.2	NP_079212.2	Q9H5U6	ZCHC4_HUMAN			10	1178	+		Breast(46;0.0503)	385					B2RXF6|B4DRD8|B7ZW20|Q5IW78|Q96AN7	Missense_Mutation	SNP	ENST00000302874.4	37	c.1154G>A	CCDS43218.1	.	.	.	.	.	.	.	.	.	.	G	24.0	4.479936	0.84747	0.0	1.22E-4	ENSG00000168228	ENST00000302874	T	0.38240	1.15	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	T	0.42471	0.1204	M	0.76838	2.35	0.58432	D	0.999995	P	0.43750	0.816	B	0.37198	0.243	T	0.51403	-0.8710	10	0.72032	D	0.01	-12.0549	17.2374	0.87002	0.0:0.0:1.0:0.0	.	385	Q9H5U6	ZCHC4_HUMAN	Q	385	ENSP00000303468:R385Q	ENSP00000303468:R385Q	R	+	2	0	ZCCHC4	24972966	1.000000	0.71417	0.992000	0.48379	0.606000	0.37113	7.606000	0.82863	2.809000	0.96659	0.655000	0.94253	CGG		0.333	ZCCHC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361151.1			12	25	0	0	0	1	0	12	25					A	25363868	G	A	25363868	3	1	435	1	0	0	0	0	1	0	0	0	17587	1116	39	2	1192	2	ZCCHC4	4	25363868	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	785814	25363868	165790408	2265	23190											
ANAPC4	29945	broad.mit.edu	37	chr4	25382011	25382011	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttaggttttacttcatcgaCtggcaagttttcatcgagtt	8	17	8	8	2	2	0	2	0	0	0	4	2	2	0	0	2	1	4	0	2	3	7			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:25382011C>T	ENST00000315368.3	+	3	287	c.145C>T	c.(145-147)Ctg>Ttg	p.L49L	ANAPC4_ENST00000510092.1_Silent_p.L49L	NM_013367.2	NP_037499.2	Q9UJX5	APC4_HUMAN	anaphase promoting complex subunit 4	49					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein phosphatase binding (GO:0019903)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)	27		Breast(46;0.0503)				ACTTCATCGACTGGCAAGTTT	0.348																																						ENST00000315368.3																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)	27						c.(145-147)Ctg>Ttg		anaphase promoting complex subunit 4							95	93	94					4																	25382011		2203	4300	6503	SO:0001819	synonymous_variant	29945				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|G2/M transition of mitotic cell cycle|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm	protein phosphatase binding|ubiquitin-protein ligase activity	g.chr4:25382011C>T	AF191338	CCDS3434.1, CCDS68684.1	4p15.31	2011-06-15			ENSG00000053900	ENSG00000053900		"Anaphase promoting complex subunits"	19990	protein-coding gene	gene with protein product		606947				6180011	Standard	NM_013367		Approved	APC4	uc003gro.3	Q9UJX5	OTTHUMG00000097753	ENST00000315368.3:c.145C>T	4.37:g.25382011C>T						ANAPC4_ENST00000510092.1_Silent_p.L49L	p.L49L	NM_013367.2	NP_037499.2	Q9UJX5	APC4_HUMAN			3	287	+		Breast(46;0.0503)	49					A8K8H1|E9PCR4|Q6PCC6|Q9NSH6	Silent	SNP	ENST00000315368.3	37	c.145C>T	CCDS3434.1																																																																																				0.348	ANAPC4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000214986.1	NM_013367		7	15	0	0	0	1	0	7	15					T	25382011	C	T	25382011	2	4	435	1	0	0	0	0	0	0	0	1	604	564	20	3		3	ANAPC4	4	25382011	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	18143	25382011	165772265	2266	23191											
SLC34A2	10568	broad.mit.edu	37	chr4	25665888	25665888	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gggagattgattttacttctCggatttctctactttttcgt	6	20	8	7	2	2	2	0	1	2	1	5	4	2	3	0	2	2	0	0	2	2	8	rs374518970		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:25665888C>T	ENST00000382051.3	+	4	365	c.315C>T	c.(313-315)ctC>ctT	p.L105L	SLC34A2_ENST00000504570.1_Silent_p.L104L|SLC34A2_ENST00000503434.1_Silent_p.L104L	NM_001177998.1|NM_006424.2	NP_001171469.1|NP_006415	O95436	NPT2B_HUMAN	solute carrier family 34 (type II sodium/phosphate contransporter), member 2	105					aging (GO:0007568)|cellular phosphate ion homeostasis (GO:0030643)|in utero embryonic development (GO:0001701)|ion transport (GO:0006811)|phosphate ion transmembrane transport (GO:0035435)|phosphate ion transport (GO:0006817)|response to estradiol (GO:0032355)|response to estrogen (GO:0043627)|response to fructose (GO:0009750)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|microvillus membrane (GO:0031528)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	phosphate ion binding (GO:0042301)|sodium ion binding (GO:0031402)|sodium-dependent phosphate transmembrane transporter activity (GO:0015321)|sodium:phosphate symporter activity (GO:0005436)		SLC34A2/ROS1(14)	breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(4)	41		Breast(46;0.0503)				TTTTACTTCTCGGATTTCTCT	0.507			T	ROS1	NSCLC																																	ENST00000382051.3				Dom	yes		4	4p15.2	10568	T	"solute carrier family 34 (sodium phosphate), member 2"			E	ROS1		NSCLC	SLC34A2/ROS1(14)	0				breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(4)	41						c.(313-315)ctC>ctT		solute carrier family 34 (type II sodium/phosphate contransporter), member 2		C	,,	0,4406		0,0,2203	152	147	148		312,312,315	3.8	0.9	4		148	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous	SLC34A2	NM_001177998.1,NM_001177999.1,NM_006424.2	,,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,,	104/690,104/690,105/691	25665888	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	10568				cellular phosphate ion homeostasis	apical plasma membrane|brush border membrane|integral to plasma membrane	phosphate binding|sodium ion binding|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity	g.chr4:25665888C>T	AF111856	CCDS3435.1, CCDS54750.1	4p15.2	2013-07-17	2013-07-17		ENSG00000157765	ENSG00000157765		"Solute carriers"	11020	protein-coding gene	gene with protein product		604217	"solute carrier family 34 (sodium phosphate), member 2"			10329428, 10610722	Standard	NM_006424		Approved	NAPI-3B	uc003grr.3	O95436	OTTHUMG00000097757	ENST00000382051.3:c.315C>T	4.37:g.25665888C>T						SLC34A2_ENST00000503434.1_Silent_p.L104L|SLC34A2_ENST00000504570.1_Silent_p.L104L	p.L105L	NM_001177998.1|NM_006424.2	NP_001171469.1|NP_006415.2	O95436	NPT2B_HUMAN			4	365	+		Breast(46;0.0503)	105					A5PL17|Q8N2K2|Q8WYA9|Q9P0V7	Silent	SNP	ENST00000382051.3	37	c.315C>T	CCDS3435.1																																																																																				0.507	SLC34A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214990.1	NM_006424		32	44	0	0	0	1	0	32	44					T	25665888	C	T	25665888	2	4	435	1	0	0	0	0	0	0	0	1	14568	871	31	2		2	SLC34A2	4	25665888	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	283877	25665888	165488388	2267	23192											
SEL1L3	23231	broad.mit.edu	37	chr4	25823678	25823678	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtccaaaaaacccttcaatGccagccacatacctgctccc	12	7	5	17	0	1	0	1	0	0	0	3	0	3	0	6	1	5	1	6	1	5	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:25823678G>A	ENST00000399878.3	-	7	1352	c.1230C>T	c.(1228-1230)ggC>ggT	p.G410G	SEL1L3_ENST00000264868.5_Silent_p.G375G|SEL1L3_ENST00000502949.1_Silent_p.G257G	NM_015187.3	NP_056002.2	Q68CR1	SE1L3_HUMAN	sel-1 suppressor of lin-12-like 3 (C. elegans)	410						integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(2)	14						ACCCTTCAATGCCAGCCACAT	0.507																																						ENST00000399878.3																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(2)	14						c.(1228-1230)ggC>ggT		sel-1 suppressor of lin-12-like 3 (C. elegans)							56	57	57					4																	25823678		1912	4131	6043	SO:0001819	synonymous_variant	23231					integral to membrane	binding	g.chr4:25823678G>A	BC009945	CCDS47037.1, CCDS75113.1	4p15.2	2009-09-24			ENSG00000091490	ENSG00000091490			29108	protein-coding gene	gene with protein product	"KIAA0746 protein"					9872452	Standard	XM_005248143		Approved	KIAA0746	uc003gru.4	Q68CR1	OTTHUMG00000160331	ENST00000399878.3:c.1230C>T	4.37:g.25823678G>A						SEL1L3_ENST00000264868.5_Silent_p.G375G|SEL1L3_ENST00000502949.1_Silent_p.G257G	p.G410G	NM_015187.3	NP_056002.2	Q68CR1	SE1L3_HUMAN			7	1352	-			410					A0PJH6|A8K0X2|O94847|Q6P999|Q96G59	Silent	SNP	ENST00000399878.3	37	c.1230C>T	CCDS47037.1																																																																																				0.507	SEL1L3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360261.1	NM_015187		20	20	0	0	0	1	0	20	20					A	25823678	G	A	25823678	2	1	435	1	0	0	0	0	0	0	0	1	14012	1306	46	3		3	SEL1L3	4	25823678	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	157790	25823678	165330598	2268	23193											
RBPJ	3516	broad.mit.edu	37	chr4	26407825	26407825	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgcgaaattatttaaaagagCgaggggatcaaacagtactt	16	10	10	5	2	1	1	1	0	0	1	1	4	1	2	0	2	4	1	0	2	6	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:26407825C>T	ENST00000361572.6	+	3	321	c.127C>T	c.(127-129)Cga>Tga	p.R43*	RBPJ_ENST00000504907.1_Nonsense_Mutation_p.R29*|RBPJ_ENST00000345843.3_Nonsense_Mutation_p.R28*|RBPJ_ENST00000355476.3_Nonsense_Mutation_p.R29*|RBPJ_ENST00000511401.1_3'UTR|RBPJ_ENST00000348160.4_Nonsense_Mutation_p.R30*|RBPJ_ENST00000342320.4_Nonsense_Mutation_p.R29*|RBPJ_ENST00000342295.1_Nonsense_Mutation_p.R43*|RBPJ_ENST00000507561.1_Nonsense_Mutation_p.R8*			Q06330	SUH_HUMAN	recombination signal binding protein for immunoglobulin kappa J region	43					angiogenesis (GO:0001525)|arterial endothelial cell fate commitment (GO:0060844)|atrioventricular canal development (GO:0036302)|auditory receptor cell fate commitment (GO:0009912)|B cell differentiation (GO:0030183)|blood vessel endothelial cell fate specification (GO:0097101)|blood vessel lumenization (GO:0072554)|blood vessel remodeling (GO:0001974)|cardiac left ventricle morphogenesis (GO:0003214)|Clara cell differentiation (GO:0060486)|defense response to bacterium (GO:0042742)|DNA recombination (GO:0006310)|dorsal aorta morphogenesis (GO:0035912)|endocardium morphogenesis (GO:0003160)|epidermal cell fate specification (GO:0009957)|epithelial to mesenchymal transition (GO:0001837)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|gene expression (GO:0010467)|hair follicle maturation (GO:0048820)|humoral immune response (GO:0006959)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|keratinocyte differentiation (GO:0030216)|labyrinthine layer blood vessel development (GO:0060716)|negative regulation of cell proliferation (GO:0008285)|negative regulation of ossification (GO:0030279)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|outflow tract morphogenesis (GO:0003151)|pituitary gland development (GO:0021983)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of canonical Wnt signaling pathway involved in cardiac muscle cell fate commitment (GO:1901297)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell proliferation involved in heart morphogenesis (GO:2000138)|positive regulation of ephrin receptor signaling pathway (GO:1901189)|positive regulation of ERBB signaling pathway (GO:1901186)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription of Notch receptor target (GO:0007221)|regulation of timing of cell differentiation (GO:0048505)|regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003256)|sebaceous gland development (GO:0048733)|secondary heart field specification (GO:0003139)|somatic stem cell maintenance (GO:0035019)|transcription initiation from RNA polymerase II promoter (GO:0006367)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cytoplasm (GO:0005737)|MAML1-RBP-Jkappa- ICN1 complex (GO:0002193)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|recombinase activity (GO:0000150)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II repressing transcription factor binding (GO:0001103)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(2)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)	15		Breast(46;0.0503)				TTTAAAAGAGCGAGGGGATCA	0.318																																						ENST00000342320.4																			0				central_nervous_system(2)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)	15						c.(85-87)Cga>Tga		recombination signal binding protein for immunoglobulin kappa J region							100	110	107					4																	26407825		2203	4299	6502	SO:0001587	stop_gained	3516				DNA recombination|negative regulation of transcription, DNA-dependent|positive regulation of transcription of Notch receptor target	cytoplasm|nucleolus|nucleoplasm	DNA binding|protein binding|recombinase activity|sequence-specific DNA binding transcription factor activity	g.chr4:26407825C>T	L07872	CCDS3436.1, CCDS3437.1, CCDS33969.1, CCDS43219.1	4p15.2	2013-10-18	2007-02-26	2007-02-26	ENSG00000168214	ENSG00000168214			5724	protein-coding gene	gene with protein product	"suppressor of hairless homolog (Drosophila)"	147183	"recombining binding protein suppressor of hairless (Drosophila)"	IGKJRB1, RBPSUH		8406481, 9290259	Standard	NM_005349		Approved	SUH, IGKJRB, RBPJK, KBF2, RBP-J, CBF1	uc003gsb.2	Q06330	OTTHUMG00000097793	ENST00000361572.6:c.127C>T	4.37:g.26407825C>T	ENSP00000354528:p.Arg43*					RBPJ_ENST00000348160.4_Nonsense_Mutation_p.R30*|RBPJ_ENST00000355476.3_Nonsense_Mutation_p.R29*|RBPJ_ENST00000342295.1_Nonsense_Mutation_p.R43*|RBPJ_ENST00000504907.1_Nonsense_Mutation_p.R29*|RBPJ_ENST00000507561.1_Nonsense_Mutation_p.R8*|RBPJ_ENST00000361572.6_Nonsense_Mutation_p.R43*|RBPJ_ENST00000511401.1_3'UTR|RBPJ_ENST00000345843.3_Nonsense_Mutation_p.R28*	p.R29*			Q06330	SUH_HUMAN			3	261	+		Breast(46;0.0503)	43					B4DY22|Q5XKH9|Q6P1N3	Nonsense_Mutation	SNP	ENST00000361572.6	37	c.85C>T	CCDS3437.1	.	.	.	.	.	.	.	.	.	.	C	19.67	3.870387	0.72065	.	.	ENSG00000168214	ENST00000512351;ENST00000510778;ENST00000506956;ENST00000512671;ENST00000345843;ENST00000342295;ENST00000361572;ENST00000514807;ENST00000348160;ENST00000509158;ENST00000355476;ENST00000507561;ENST00000514730;ENST00000507574;ENST00000514675;ENST00000515573;ENST00000511546;ENST00000504907;ENST00000342320;ENST00000504938	.	.	.	5.4	2.57	0.30868	.	0.067509	0.64402	D	0.000012	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-9.045	13.6333	0.62208	0.5343:0.4657:0.0:0.0	.	.	.	.	X	29;66;29;43;28;43;43;29;30;29;29;8;29;8;29;8;29;29;29;8	.	ENSP00000345206:R43X	R	+	1	2	RBPJ	26016923	1.000000	0.71417	0.997000	0.53966	0.998000	0.95712	1.989000	0.40707	0.185000	0.20105	0.591000	0.81541	CGA		0.318	RBPJ-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000215046.2	NM_015874		22	44	0	0	0	1	0	22	44					T	26407825	C	T	26407825	4	4	435	1	0	0	0	0	0	1	0	0	13161	760	27	1	200	1	RBPJ	4	26407825	Nonsense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	584147	26407825	164746451	2269	23194											
TBC1D19	55296	broad.mit.edu	37	chr4	26638843	26638843	+	Frame_Shift_Del	DEL	A	A	-																															tatgtttcagggaagttgggAaaaaagaattttgaagagtt																										TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:26638843delA	ENST00000264866.4	+	5	583	c.305delA	c.(304-306)gaafs	p.E102fs	TBC1D19_ENST00000515568.1_3'UTR|TBC1D19_ENST00000511789.1_Frame_Shift_Del_p.E37fs|AC093807.1_ENST00000580172.1_RNA	NM_018317.2	NP_060787.2	Q8N5T2	TBC19_HUMAN	TBC1 domain family, member 19	102							Rab GTPase activator activity (GO:0005097)			breast(4)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	17		Breast(46;0.0503)				GGAAGTTGGGAAAAAAGAATT	0.259																																						ENST00000264866.4																			0				breast(4)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	17						c.(304-306)gafs		TBC1 domain family, member 19							61	65	63					4																	26638843		2203	4297	6500	SO:0001589	frameshift_variant	55296					intracellular	Rab GTPase activator activity	g.chr4:26638843delA	AK001944	CCDS3439.1, CCDS75115.1	4p15.2	2008-02-05			ENSG00000109680	ENSG00000109680			25624	protein-coding gene	gene with protein product							Standard	XM_006713967		Approved	FLJ11082	uc003gsf.4	Q8N5T2	OTTHUMG00000097797	ENST00000264866.4:c.305delA	4.37:g.26638843delA	ENSP00000264866:p.Glu102fs					TBC1D19_ENST00000515568.1_3'UTR|TBC1D19_ENST00000511789.1_Frame_Shift_Del_p.E37fs	p.E102fs	NM_018317.2	NP_060787.2	Q8N5T2	TBC19_HUMAN			5	583	+		Breast(46;0.0503)	102					B9A6M0|Q9NUX1	Frame_Shift_Del	DEL	ENST00000264866.4	37	c.305delA	CCDS3439.1																																																																																				0.259	TBC1D19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215052.2	NM_018317		18	35						18	35	---	---	---	---	-	26638843	A	-	26638843	7	5	435	1	0	1	0	1	0	0	0	0	15604	246	9	0	323	0	TBC1D19	4	26638843	Frame_Shift_Del	DEL	A	TCGA-XK-AAIW-01A-11D-A41K-08	231018	26638843	164515433	2270	23195											
STIM2	57620	broad.mit.edu	37	chr4	27019579	27019579	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aaatgaagaggaggaagaggCcatttacttctctgctgaaa	15	9	11	6	0	1	4	0	2	1	2	2	6	1	6	1	3	2	1	1	3	5	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:27019579C>T	ENST00000467011.1	+	11	2161	c.1736C>T	c.(1735-1737)gCc>gTc	p.A579V	STIM2_ENST00000382009.3_Missense_Mutation_p.A674V|STIM2_ENST00000467087.1_Missense_Mutation_p.A579V|STIM2_ENST00000465503.1_Missense_Mutation_p.A587V|STIM2_ENST00000237364.5_Missense_Mutation_p.A666V|STIM2_ENST00000412829.2_Missense_Mutation_p.A666V	NM_001169117.1	NP_001162588	Q9P246	STIM2_HUMAN	stromal interaction molecule 2	579					activation of store-operated calcium channel activity (GO:0032237)|calcium ion transmembrane transport (GO:0070588)|cellular calcium ion homeostasis (GO:0006874)|positive regulation of calcium ion transport (GO:0051928)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|store-operated calcium channel activity (GO:0015279)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	25		Breast(46;0.0503)				GAGGAAGAGGCCATTTACTTC	0.532																																						ENST00000382009.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	25						c.(2020-2022)gCc>gTc		stromal interaction molecule 2							245	241	243					4																	27019579		2203	4300	6503	SO:0001583	missense	57620				activation of store-operated calcium channel activity|calcium ion transport|cellular calcium ion homeostasis|negative regulation of calcium ion transport via store-operated calcium channel activity	endoplasmic reticulum membrane|integral to membrane|plasma membrane	calcium channel regulator activity|calcium ion binding|protein binding	g.chr4:27019579C>T	AB040915	CCDS3440.1, CCDS3440.2, CCDS54751.1, CCDS54752.1	4p15.2	2013-01-10			ENSG00000109689	ENSG00000109689		"Sterile alpha motif (SAM) domain containing"	19205	protein-coding gene	gene with protein product		610841				11463338	Standard	NM_020860		Approved		uc003gsh.4	Q9P246	OTTHUMG00000097805	ENST00000467011.1:c.1736C>T	4.37:g.27019579C>T	ENSP00000419383:p.Ala579Val					STIM2_ENST00000465503.1_Missense_Mutation_p.A587V|STIM2_ENST00000237364.5_Missense_Mutation_p.A666V|STIM2_ENST00000467011.1_Missense_Mutation_p.A579V|STIM2_ENST00000467087.1_Missense_Mutation_p.A579V|STIM2_ENST00000412829.2_Missense_Mutation_p.A666V	p.A674V	NM_001169118.1	NP_001162589.1	Q9P246	STIM2_HUMAN			12	2288	+		Breast(46;0.0503)	579					A6H8L7|B7ZVY0|Q96BF1|Q9BQH2|Q9H8R1	Missense_Mutation	SNP	ENST00000467011.1	37	c.2021C>T	CCDS54752.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.231406	0.79688	.	.	ENSG00000109689	ENST00000467087;ENST00000382009;ENST00000237364;ENST00000467011;ENST00000412829;ENST00000465503;ENST00000473519;ENST00000477474	T;T;T;T;T;T;T;T	0.41400	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	5.32	5.32	0.75619	.	0.117869	0.64402	D	0.000019	T	0.47801	0.1465	N	0.14661	0.345	0.42019	D	0.990976	D;D;D;D	0.71674	0.99;0.996;0.996;0.998	P;P;P;D	0.65684	0.815;0.867;0.867;0.937	T	0.50709	-0.8796	10	0.38643	T	0.18	.	18.9976	0.92819	0.0:1.0:0.0:0.0	.	579;666;674;666	Q9P246;A6H8L7;E9PGD0;F5GXJ4	STIM2_HUMAN;.;.;.	V	579;674;666;579;666;587;287;181	ENSP00000419073:A579V;ENSP00000371439:A674V;ENSP00000237364:A666V;ENSP00000419383:A579V;ENSP00000404812:A666V;ENSP00000417569:A587V;ENSP00000420113:A287V;ENSP00000419536:A181V	ENSP00000237364:A666V	A	+	2	0	STIM2	26628677	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	3.504000	0.53347	2.483000	0.83821	0.460000	0.39030	GCC		0.532	STIM2-003	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000356861.1	NM_020860		97	147	0	0	0	1	0	97	147					T	27019579	C	T	27019579	3	4	435	1	0	0	0	0	1	0	0	0	15283	739	26	3	1806	3	STIM2	4	27019579	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	380736	27019579	164134697	2271	23196											
PCDH7	5099	broad.mit.edu	37	chr4	30724564	30724564	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttcaacgtggtcatcgtggCggtggactcaggcagcccca	7	8	14	12	3	3	0	3	0	0	0	4	1	3	1	2	5	2	2	2	5	1	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:30724564C>T	ENST00000361762.2	+	1	2528	c.1520C>T	c.(1519-1521)gCg>gTg	p.A507V	PCDH7_ENST00000543491.1_Missense_Mutation_p.A507V	NM_002589.2	NP_002580.2	O60245	PCDH7_HUMAN	protocadherin 7	507	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(8)|liver(1)|lung(26)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	55						GTCATCGTGGCGGTGGACTCA	0.597																																						ENST00000361762.2																			0				NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(8)|liver(1)|lung(26)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	55						c.(1519-1521)gCg>gTg		protocadherin 7							60	50	54					4																	30724564		2203	4300	6503	SO:0001583	missense	5099				homophilic cell adhesion	integral to plasma membrane	calcium ion binding	g.chr4:30724564C>T	AB006755	CCDS33971.1, CCDS75116.1	4p15	2014-06-13	2007-02-12			ENSG00000169851		"Cadherins / Protocadherins : Non-clustered"	8659	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 120"	602988	"BH-protocadherin (brain-heart)"			9615233	Standard	NM_002589		Approved	BH-Pcdh, PPP1R120	uc021xnd.1	O60245		ENST00000361762.2:c.1520C>T	4.37:g.30724564C>T	ENSP00000355243:p.Ala507Val					PCDH7_ENST00000543491.1_Missense_Mutation_p.A507V	p.A507V	NM_002589.2	NP_002580.2	O60245	PCDH7_HUMAN			1	2528	+			507			Cadherin 4.		O60246|O60247|Q4W5C4	Missense_Mutation	SNP	ENST00000361762.2	37	c.1520C>T	CCDS33971.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.210762	0.79240	.	.	ENSG00000169851	ENST00000361762;ENST00000543491;ENST00000333135	T;T	0.30182	1.54;1.54	5.26	5.26	0.73747	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.55593	0.1930	M	0.62723	1.935	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;0.999;1.0	T	0.56768	-0.7924	9	0.87932	D	0	.	19.0611	0.93093	0.0:1.0:0.0:0.0	.	507;460;507	F5GWJ1;O60245-3;O60245	.;.;PCDH7_HUMAN	V	507;507;460	ENSP00000355243:A507V;ENSP00000441802:A507V	ENSP00000330302:A460V	A	+	2	0	PCDH7	30333662	1.000000	0.71417	0.987000	0.45799	0.984000	0.73092	7.651000	0.83577	2.735000	0.93741	0.655000	0.94253	GCG		0.597	PCDH7-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000360366.1	NM_032457, NM_002589		8	10	0	0	0	1	0	8	10					T	30724564	C	T	30724564	3	4	435	1	0	0	0	0	1	0	0	0	11516	768	27	1	1522	1	PCDH7	4	30724564	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	3704985	30724564	160429712	2272	23197											
PCDH7	5099	broad.mit.edu	37	chr4	30725231	30725231	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tctgccacagctacagtctcGctttttgtgatggatgaaaa	10	13	9	9	1	2	2	0	2	2	0	3	3	2	3	1	1	3	2	1	1	3	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:30725231G>A	ENST00000361762.2	+	1	3195	c.2187G>A	c.(2185-2187)tcG>tcA	p.S729S	PCDH7_ENST00000543491.1_Silent_p.S729S	NM_002589.2	NP_002580.2	O60245	PCDH7_HUMAN	protocadherin 7	729	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(8)|liver(1)|lung(26)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	55						CTACAGTCTCGCTTTTTGTGA	0.473																																						ENST00000361762.2																			0				NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(8)|liver(1)|lung(26)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	55						c.(2185-2187)tcG>tcA		protocadherin 7							102	97	99					4																	30725231		2203	4300	6503	SO:0001819	synonymous_variant	5099				homophilic cell adhesion	integral to plasma membrane	calcium ion binding	g.chr4:30725231G>A	AB006755	CCDS33971.1, CCDS75116.1	4p15	2014-06-13	2007-02-12			ENSG00000169851		"Cadherins / Protocadherins : Non-clustered"	8659	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 120"	602988	"BH-protocadherin (brain-heart)"			9615233	Standard	NM_002589		Approved	BH-Pcdh, PPP1R120	uc021xnd.1	O60245		ENST00000361762.2:c.2187G>A	4.37:g.30725231G>A						PCDH7_ENST00000543491.1_Silent_p.S729S	p.S729S	NM_002589.2	NP_002580.2	O60245	PCDH7_HUMAN			1	3195	+			729			Cadherin 6.		O60246|O60247|Q4W5C4	Silent	SNP	ENST00000361762.2	37	c.2187G>A	CCDS33971.1	.	.	.	.	.	.	.	.	.	.	G	2.343	-0.350746	0.05173	.	.	ENSG00000169851	ENST00000511884	.	.	.	5.04	1.2	0.21068	.	.	.	.	.	T	0.52008	0.1708	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.36768	-0.9734	4	.	.	.	.	5.8257	0.18552	0.0:0.2256:0.4757:0.2987	.	.	.	.	T	419	.	.	A	+	1	0	PCDH7	30334329	0.308000	0.24509	0.999000	0.59377	0.969000	0.65631	-0.443000	0.06862	0.063000	0.16370	-0.262000	0.10625	GCT		0.473	PCDH7-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000360366.1	NM_032457, NM_002589		33	41	0	0	0	1	0	33	41					A	30725231	G	A	30725231	2	1	435	1	0	0	0	0	0	0	0	1	11516	1074	38	1		1	PCDH7	4	30725231	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	667	30725231	160429045	2273	23198											
C4orf19	55286	broad.mit.edu	37	chr4	37592465	37592465	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tgagaagggtcctgttcatgCcatgcctgtggttgactcag	7	12	13	9	0	2	2	2	2	0	1	3	3	3	2	3	2	2	2	3	2	1	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:37592465C>T	ENST00000284437.6	+	3	966	c.788C>T	c.(787-789)gCc>gTc	p.A263V	C4orf19_ENST00000508175.1_Intron|RP11-36B15.1_ENST00000503034.1_RNA|C4orf19_ENST00000381980.4_Missense_Mutation_p.A263V|RELL1_ENST00000314117.4_3'UTR	NM_018302.2	NP_060772.2	Q8IY42	CD019_HUMAN	chromosome 4 open reading frame 19	263										large_intestine(1)|lung(3)|skin(3)|stomach(1)|urinary_tract(1)	9						CCTGTTCATGCCATGCCTGTG	0.522																																						ENST00000284437.6																			0				large_intestine(1)|lung(3)|skin(3)|stomach(1)|urinary_tract(1)	9						c.(787-789)gCc>gTc		chromosome 4 open reading frame 19							112	106	108					4																	37592465		2203	4300	6503	SO:0001583	missense	55286							g.chr4:37592465C>T	BC037906	CCDS3442.1	4p14	2008-02-05			ENSG00000154274	ENSG00000154274			25618	protein-coding gene	gene with protein product						12477932	Standard	NM_001104629		Approved	FLJ11017	uc003gsw.4	Q8IY42	OTTHUMG00000128580	ENST00000284437.6:c.788C>T	4.37:g.37592465C>T	ENSP00000284437:p.Ala263Val					C4orf19_ENST00000381980.4_Missense_Mutation_p.A263V|RELL1_ENST00000314117.4_3'UTR|C4orf19_ENST00000508175.1_Intron	p.A263V	NM_018302.2	NP_060772.2	Q8IY42	CD019_HUMAN			3	966	+			263					Q9NV03	Missense_Mutation	SNP	ENST00000284437.6	37	c.788C>T	CCDS3442.1	.	.	.	.	.	.	.	.	.	.	C	0.869	-0.732777	0.03135	.	.	ENSG00000154274	ENST00000381980;ENST00000284437	T;T	0.26518	1.73;1.73	4.91	-1.52	0.08637	.	1.391650	0.04586	N	0.395836	T	0.08626	0.0214	N	0.03608	-0.345	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.26052	-1.0114	10	0.02654	T	1	-1.2777	4.0193	0.09658	0.2883:0.2466:0.0:0.465	.	263	Q8IY42	CD019_HUMAN	V	263	ENSP00000371408:A263V;ENSP00000284437:A263V	ENSP00000284437:A263V	A	+	2	0	C4orf19	37268860	0.000000	0.05858	0.000000	0.03702	0.022000	0.10575	-0.695000	0.05109	-0.142000	0.11354	-0.216000	0.12614	GCC		0.522	C4orf19-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250432.1	NM_018302		22	33	0	0	0	1	0	22	33					T	37592465	C	T	37592465	3	4	435	1	0	0	0	0	1	0	0	0	2253	739	26	3	794	3	C4orf19	4	37592465	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	6867234	37592465	153561811	2274	23199											
TBC1D1	23216	broad.mit.edu	37	chr4	38022223	38022223	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttggcagggcatcagacaCgtggaccactttgggtttat	8	12	12	9	1	1	1	1	0	0	1	1	2	1	2	1	4	0	3	1	4	1	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:38022223C>T	ENST00000261439.4	+	5	1339	c.984C>T	c.(982-984)caC>caT	p.H328H	TBC1D1_ENST00000508802.1_Silent_p.H328H	NM_001253914.1|NM_001253915.1|NM_015173.3	NP_001240843.1|NP_001240844.1|NP_055988.2	Q86TI0	TBCD1_HUMAN	TBC1 (tre-2/USP6, BUB2, cdc16) domain family, member 1	328	PID. {ECO:0000255|PROSITE- ProRule:PRU00148}.				membrane organization (GO:0061024)|regulation of protein localization (GO:0032880)	cytosol (GO:0005829)|nucleus (GO:0005634)	Rab GTPase activator activity (GO:0005097)	p.H328H(1)		NS(1)|breast(3)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	36						GCATCAGACACGTGGACCACT	0.483																																						ENST00000261439.4																			1	Substitution - coding silent(1)	p.H328H(1)	lung(1)	NS(1)|breast(3)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	36						c.(982-984)caC>caT		TBC1 (tre-2/USP6, BUB2, cdc16) domain family, member 1							287	273	278					4																	38022223		2203	4300	6503	SO:0001819	synonymous_variant	23216					nucleus	Rab GTPase activator activity	g.chr4:38022223C>T	AB029031	CCDS33972.1, CCDS58897.1	4p14	2013-07-09			ENSG00000065882	ENSG00000065882			11578	protein-coding gene	gene with protein product		609850				10965142, 18258599	Standard	NM_015173		Approved	TBC, TBC1, KIAA1108	uc003gtb.3	Q86TI0	OTTHUMG00000150302	ENST00000261439.4:c.984C>T	4.37:g.38022223C>T						TBC1D1_ENST00000508802.1_Silent_p.H328H	p.H328H	NM_001253914.1|NM_001253915.1|NM_015173.3	NP_001240843.1|NP_001240844.1|NP_055988.2	Q86TI0	TBCD1_HUMAN			5	1339	+			328			PID.		B7Z3D9|E9PGH8|Q96K82|Q9UPP4	Silent	SNP	ENST00000261439.4	37	c.984C>T	CCDS33972.1																																																																																				0.483	TBC1D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317443.2	NM_015173		51	71	0	0	0	1	0	51	71					T	38022223	C	T	38022223	2	4	435	1	0	0	0	0	0	0	0	1	15594	535	19	1		1	TBC1D1	4	38022223	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	429758	38022223	153132053	2275	23200											
TLR1	7096	broad.mit.edu	37	chr4	38798902	38798902	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ttgtcccctgcttttattgaCctcatcttctggcagctctg	4	17	7	13	0	4	1	1	1	3	0	5	1	5	1	3	1	2	3	3	1	1	5	rs199539854		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:38798902C>T	ENST00000502213.2	-	3	1780	c.1551G>A	c.(1549-1551)agG>agA	p.R517R	TLR1_ENST00000510552.1_5'Flank|TLR1_ENST00000308979.2_Silent_p.R517R			Q15399	TLR1_HUMAN	toll-like receptor 1	517					cellular response to triacyl bacterial lipopeptide (GO:0071727)|detection of triacyl bacterial lipopeptide (GO:0042495)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|macrophage activation (GO:0042116)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of interleukin-6 biosynthetic process (GO:0045410)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|regulation of cytokine secretion (GO:0050707)|signal transduction (GO:0007165)|toll-like receptor 1 signaling pathway (GO:0034130)	cytoplasmic vesicle (GO:0031410)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|Toll-like receptor 1-Toll-like receptor 2 protein complex (GO:0035354)	protein heterodimerization activity (GO:0046982)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(2)	28						CTTTTATTGACCTCATCTTCT	0.443																																					GBM(5;216 373 40795 46382)	ENST00000308979.2																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(2)	28						c.(1549-1551)agG>agA		toll-like receptor 1							163	171	168					4																	38798902		2203	4298	6501	SO:0001819	synonymous_variant	7096				cellular response to triacyl bacterial lipopeptide|detection of triacyl bacterial lipopeptide|inflammatory response|innate immune response|macrophage activation|positive regulation of interleukin-6 biosynthetic process|positive regulation of tumor necrosis factor biosynthetic process	integral to plasma membrane|phagocytic vesicle membrane|Toll-like receptor 1-Toll-like receptor 2 protein complex	protein heterodimerization activity|transmembrane receptor activity	g.chr4:38798902C>T	U88540	CCDS33973.1	4p14	2008-02-05				ENSG00000174125		"CD molecules"	11847	protein-coding gene	gene with protein product		601194				9435236, 7584026	Standard	NM_003263		Approved	rsc786, KIAA0012, CD281	uc003gtl.3	Q15399		ENST00000502213.2:c.1551G>A	4.37:g.38798902C>T						TLR1_ENST00000502213.2_Silent_p.R517R	p.R517R	NM_003263.3	NP_003254.2	Q15399	TLR1_HUMAN			4	1824	-			517					D1CS39|D1CS41|O15452|Q32MK3|Q32MK4|Q9UG90	Silent	SNP	ENST00000502213.2	37	c.1551G>A	CCDS33973.1																																																																																				0.443	TLR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360510.3			81	113	0	0	0	1	0	81	113					T	38798902	C	T	38798902	2	4	435	1	0	0	0	0	0	0	0	1	15946	506	18	3		3	TLR1	4	38798902	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	776679	38798902	152355374	2276	23201											
TLR6	10333	broad.mit.edu	37	chr4	38830345	38830345	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttgagggtaaaattcagtaaGgttgaacctctggtgagttc	11	13	12	5	0	2	3	1	3	1	0	3	3	2	3	1	3	1	4	1	3	4	6	rs139523436		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:38830345G>T	ENST00000381950.1	-	1	815	c.750C>A	c.(748-750)acC>acA	p.T250T	TLR6_ENST00000436693.2_Silent_p.T250T			Q9Y2C9	TLR6_HUMAN	toll-like receptor 6	250					activation of NF-kappaB-inducing kinase activity (GO:0007250)|cellular response to diacyl bacterial lipopeptide (GO:0071726)|defense response to bacterium (GO:0042742)|detection of diacyl bacterial lipopeptide (GO:0042496)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|microglial cell activation involved in immune response (GO:0002282)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|nitric oxide metabolic process (GO:0046209)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-6 biosynthetic process (GO:0045410)|positive regulation of JUN kinase activity (GO:0043507)|regulation of cytokine secretion (GO:0050707)|signal transduction (GO:0007165)|T-helper 1 type immune response (GO:0042088)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 6 signaling pathway (GO:0034150)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)	cytoplasmic vesicle (GO:0031410)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|Toll-like receptor 2-Toll-like receptor 6 protein complex (GO:0035355)	diacyl lipopeptide binding (GO:0042498)|lipopeptide binding (GO:0071723)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						AATTCAGTAAGGTTGAACCTC	0.343																																						ENST00000436693.2																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						c.(748-750)acC>acA		toll-like receptor 6		G		0,4406		0,0,2203	57	62	60		750	0.1	0	4	dbSNP_134	60	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	TLR6	NM_006068.4		0,1,6502	TT,TG,GG		0.0116,0.0,0.0077		250/797	38830345	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	10333				activation of NF-kappaB-inducing kinase activity|cellular response to diacyl bacterial lipopeptide|defense response to bacterium|detection of diacyl bacterial lipopeptide|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-6 biosynthetic process|positive regulation of JUN kinase activity|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	integral to plasma membrane|phagocytic vesicle membrane	lipopeptide binding|transmembrane receptor activity	g.chr4:38830345G>T		CCDS3446.1	4p16.1	2009-11-23			ENSG00000174130	ENSG00000174130		"CD molecules"	16711	protein-coding gene	gene with protein product		605403				10231569	Standard	NM_006068		Approved	CD286	uc010ifg.2	Q9Y2C9	OTTHUMG00000128579	ENST00000381950.1:c.750C>A	4.37:g.38830345G>T						TLR6_ENST00000381950.1_Silent_p.T250T	p.T250T	NM_006068.4	NP_006059.2	Q9Y2C9	TLR6_HUMAN			2	869	-			250					B3Y640|B6CH35|B6RFS4|B6RFS5|Q2NKL3	Silent	SNP	ENST00000381950.1	37	c.750C>A	CCDS3446.1																																																																																				0.343	TLR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250431.1			23	29	1	0	1.28384e-07	1	1.34682e-07	23	29					T	38830345	G	T	38830345	2	4	435	1	0	0	0	0	0	0	0	1	15952	987	35	5		5	TLR6	4	38830345	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	31443	38830345	152323931	2277	23202											
RFC1	5981	broad.mit.edu	37	chr4	39304196	39304196	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tctttaaaccttctttaaatGcaatagacatcatagcaccc	14	13	3	11	0	3	1	1	0	2	1	3	1	3	1	2	0	3	2	2	0	7	7			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:39304196G>A	ENST00000381897.1	-	18	2496	c.2363C>T	c.(2362-2364)gCa>gTa	p.A788V	RFC1_ENST00000349703.2_Missense_Mutation_p.A787V	NM_001204747.1|NM_002913.4	NP_001191676.1|NP_002904.3	P35251	RFC1_HUMAN	replication factor C (activator 1) 1, 145kDa	788					DNA repair (GO:0006281)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA-dependent DNA replication (GO:0006261)|mitotic cell cycle (GO:0000278)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|positive regulation of catalytic activity (GO:0043085)|positive regulation of transcription, DNA-templated (GO:0045893)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|telomere maintenance via telomerase (GO:0007004)|transcription, DNA-templated (GO:0006351)|transcription-coupled nucleotide-excision repair (GO:0006283)	cell junction (GO:0030054)|DNA replication factor C complex (GO:0005663)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA clamp loader activity (GO:0003689)|double-stranded DNA binding (GO:0003690)|enzyme activator activity (GO:0008047)|sequence-specific DNA binding (GO:0043565)			haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	16						TTCTTTAAATGCAATAGACAT	0.308																																					Colon(109;59 1555 12203 17579 39824)|Esophageal Squamous(18;360 542 16186 28570 51157)	ENST00000381897.1																			0				haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	16						c.(2362-2364)gCa>gTa		replication factor C (activator 1) 1, 145kDa																																				SO:0001583	missense	5981				DNA strand elongation involved in DNA replication|nucleotide-excision repair, DNA gap filling|regulation of transcription, DNA-dependent|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|telomere maintenance via telomerase|transcription, DNA-dependent|transcription-coupled nucleotide-excision repair	DNA replication factor C complex|nucleoplasm	ATP binding|DNA clamp loader activity|enzyme activator activity|protein binding	g.chr4:39304196G>A	L23320	CCDS3450.1, CCDS56329.1	4p14-p13	2010-04-21	2002-08-29		ENSG00000035928	ENSG00000035928		"ATPases / AAA-type"	9969	protein-coding gene	gene with protein product		102579	"replication factor C (activator 1) 1 (145kD)"			8114700	Standard	NM_002913		Approved	A1, PO-GA, RFC140, MHCBFB	uc003gty.2	P35251	OTTHUMG00000099363	ENST00000381897.1:c.2363C>T	4.37:g.39304196G>A	ENSP00000371321:p.Ala788Val					RFC1_ENST00000349703.2_Missense_Mutation_p.A787V	p.A788V	NM_001204747.1|NM_002913.4	NP_001191676.1|NP_002904.3	P35251	RFC1_HUMAN			18	2496	-			788					A8K6E7|Q5XKF5|Q6PKU0|Q86V41|Q86V46	Missense_Mutation	SNP	ENST00000381897.1	37	c.2363C>T	CCDS56329.1	.	.	.	.	.	.	.	.	.	.	G	33	5.263277	0.95399	.	.	ENSG00000035928	ENST00000381897;ENST00000349703	T;T	0.18810	2.19;2.19	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	T	0.58779	0.2146	M	0.90870	3.155	0.80722	D	1	D;D	0.89917	0.974;1.0	P;D	0.91635	0.9;0.999	T	0.65191	-0.6228	10	0.62326	D	0.03	-18.9099	20.3334	0.98727	0.0:0.0:1.0:0.0	.	788;787	P35251;P35251-2	RFC1_HUMAN;.	V	788;787	ENSP00000371321:A788V;ENSP00000261424:A787V	ENSP00000261424:A787V	A	-	2	0	RFC1	38980591	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.970000	0.88000	2.818000	0.97014	0.591000	0.81541	GCA		0.308	RFC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000216808.1	NM_002913		15	20	0	0	0	1	0	15	20					A	39304196	G	A	39304196	3	1	435	1	0	0	0	0	1	0	0	0	13244	1319	46	3	1115	3	RFC1	4	39304196	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	473851	39304196	151850080	2278	23203											
RFC1	5981	broad.mit.edu	37	chr4	39318570	39318570	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagcccagagccttgggacCttctcgatttaagtagcttc	8	11	11	11	1	1	1	0	0	1	1	3	4	1	3	3	2	3	2	3	2	2	6			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:39318570C>T	ENST00000381897.1	-	10	1301	c.1168G>A	c.(1168-1170)Ggt>Agt	p.G390S	RFC1_ENST00000349703.2_Missense_Mutation_p.G390S	NM_001204747.1|NM_002913.4	NP_001191676.1|NP_002904.3	P35251	RFC1_HUMAN	replication factor C (activator 1) 1, 145kDa	390					DNA repair (GO:0006281)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA-dependent DNA replication (GO:0006261)|mitotic cell cycle (GO:0000278)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|positive regulation of catalytic activity (GO:0043085)|positive regulation of transcription, DNA-templated (GO:0045893)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|telomere maintenance via telomerase (GO:0007004)|transcription, DNA-templated (GO:0006351)|transcription-coupled nucleotide-excision repair (GO:0006283)	cell junction (GO:0030054)|DNA replication factor C complex (GO:0005663)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA clamp loader activity (GO:0003689)|double-stranded DNA binding (GO:0003690)|enzyme activator activity (GO:0008047)|sequence-specific DNA binding (GO:0043565)			haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	16						GCCTTGGGACCTTCTCGATTT	0.443																																					Colon(109;59 1555 12203 17579 39824)|Esophageal Squamous(18;360 542 16186 28570 51157)	ENST00000381897.1																			0				haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	16						c.(1168-1170)Ggt>Agt		replication factor C (activator 1) 1, 145kDa							141	141	141					4																	39318570		2203	4300	6503	SO:0001583	missense	5981				DNA strand elongation involved in DNA replication|nucleotide-excision repair, DNA gap filling|regulation of transcription, DNA-dependent|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|telomere maintenance via telomerase|transcription, DNA-dependent|transcription-coupled nucleotide-excision repair	DNA replication factor C complex|nucleoplasm	ATP binding|DNA clamp loader activity|enzyme activator activity|protein binding	g.chr4:39318570C>T	L23320	CCDS3450.1, CCDS56329.1	4p14-p13	2010-04-21	2002-08-29		ENSG00000035928	ENSG00000035928		"ATPases / AAA-type"	9969	protein-coding gene	gene with protein product		102579	"replication factor C (activator 1) 1 (145kD)"			8114700	Standard	NM_002913		Approved	A1, PO-GA, RFC140, MHCBFB	uc003gty.2	P35251	OTTHUMG00000099363	ENST00000381897.1:c.1168G>A	4.37:g.39318570C>T	ENSP00000371321:p.Gly390Ser					RFC1_ENST00000349703.2_Missense_Mutation_p.G390S	p.G390S	NM_001204747.1|NM_002913.4	NP_001191676.1|NP_002904.3	P35251	RFC1_HUMAN			10	1301	-			390					A8K6E7|Q5XKF5|Q6PKU0|Q86V41|Q86V46	Missense_Mutation	SNP	ENST00000381897.1	37	c.1168G>A	CCDS56329.1	.	.	.	.	.	.	.	.	.	.	C	35	5.431480	0.96150	.	.	ENSG00000035928	ENST00000381897;ENST00000349703;ENST00000504554	T;T;T	0.43294	2.49;2.5;0.95	5.78	5.78	0.91487	.	0.046014	0.85682	D	0.000000	T	0.65333	0.2681	M	0.70275	2.135	0.80722	D	1	D;D	0.89917	0.991;1.0	D;D	0.97110	0.909;1.0	T	0.58532	-0.7620	10	0.28530	T	0.3	-18.279	20.0109	0.97448	0.0:1.0:0.0:0.0	.	390;390	P35251;P35251-2	RFC1_HUMAN;.	S	390;390;22	ENSP00000371321:G390S;ENSP00000261424:G390S;ENSP00000422129:G22S	ENSP00000261424:G390S	G	-	1	0	RFC1	38994965	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.547000	0.82146	2.738000	0.93877	0.591000	0.81541	GGT		0.443	RFC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000216808.1	NM_002913		23	29	0	0	0	1	0	23	29					T	39318570	C	T	39318570	3	4	435	1	0	0	0	0	1	0	0	0	13244	681	24	3	2339	3	RFC1	4	39318570	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	14374	39318570	151835706	2279	23204											
RFC1	5981	broad.mit.edu	37	chr4	39344069	39344069	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggcattttttacctgcaacGtctcctctgactctgaatct	7	16	6	12	1	4	2	0	2	4	0	5	2	4	2	2	1	3	2	2	1	3	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:39344069G>A	ENST00000381897.1	-	4	360	c.227C>T	c.(226-228)aCg>aTg	p.T76M	RFC1_ENST00000349703.2_Missense_Mutation_p.T76M|RFC1_ENST00000418436.1_5'UTR	NM_001204747.1|NM_002913.4	NP_001191676.1|NP_002904.3	P35251	RFC1_HUMAN	replication factor C (activator 1) 1, 145kDa	76					DNA repair (GO:0006281)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA-dependent DNA replication (GO:0006261)|mitotic cell cycle (GO:0000278)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|positive regulation of catalytic activity (GO:0043085)|positive regulation of transcription, DNA-templated (GO:0045893)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|telomere maintenance via telomerase (GO:0007004)|transcription, DNA-templated (GO:0006351)|transcription-coupled nucleotide-excision repair (GO:0006283)	cell junction (GO:0030054)|DNA replication factor C complex (GO:0005663)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA clamp loader activity (GO:0003689)|double-stranded DNA binding (GO:0003690)|enzyme activator activity (GO:0008047)|sequence-specific DNA binding (GO:0043565)			haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	16						TACCTGCAACGTCTCCTCTGA	0.358																																					Colon(109;59 1555 12203 17579 39824)|Esophageal Squamous(18;360 542 16186 28570 51157)	ENST00000381897.1																			0				haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	16						c.(226-228)aCg>aTg		replication factor C (activator 1) 1, 145kDa							151	150	150					4																	39344069		2203	4300	6503	SO:0001583	missense	5981				DNA strand elongation involved in DNA replication|nucleotide-excision repair, DNA gap filling|regulation of transcription, DNA-dependent|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|telomere maintenance via telomerase|transcription, DNA-dependent|transcription-coupled nucleotide-excision repair	DNA replication factor C complex|nucleoplasm	ATP binding|DNA clamp loader activity|enzyme activator activity|protein binding	g.chr4:39344069G>A	L23320	CCDS3450.1, CCDS56329.1	4p14-p13	2010-04-21	2002-08-29		ENSG00000035928	ENSG00000035928		"ATPases / AAA-type"	9969	protein-coding gene	gene with protein product		102579	"replication factor C (activator 1) 1 (145kD)"			8114700	Standard	NM_002913		Approved	A1, PO-GA, RFC140, MHCBFB	uc003gty.2	P35251	OTTHUMG00000099363	ENST00000381897.1:c.227C>T	4.37:g.39344069G>A	ENSP00000371321:p.Thr76Met					RFC1_ENST00000349703.2_Missense_Mutation_p.T76M|RFC1_ENST00000418436.1_5'UTR	p.T76M	NM_001204747.1|NM_002913.4	NP_001191676.1|NP_002904.3	P35251	RFC1_HUMAN			4	360	-			76					A8K6E7|Q5XKF5|Q6PKU0|Q86V41|Q86V46	Missense_Mutation	SNP	ENST00000381897.1	37	c.227C>T	CCDS56329.1	.	.	.	.	.	.	.	.	.	.	g	11.11	1.541328	0.27563	.	.	ENSG00000035928	ENST00000381897;ENST00000349703;ENST00000503784	T;T	0.31510	1.49;1.49	5.51	3.77	0.43336	.	0.407852	0.24838	N	0.035185	T	0.35770	0.0943	M	0.67953	2.075	0.23724	N	0.997018	P;P	0.50943	0.94;0.93	P;P	0.48815	0.466;0.591	T	0.22034	-1.0228	10	0.48119	T	0.1	-7.0373	6.1485	0.20298	0.1653:0.1557:0.679:0.0	.	76;76	P35251;P35251-2	RFC1_HUMAN;.	M	76;76;48	ENSP00000371321:T76M;ENSP00000261424:T76M	ENSP00000261424:T76M	T	-	2	0	RFC1	39020464	1.000000	0.71417	0.642000	0.29436	0.137000	0.21094	3.826000	0.55738	0.800000	0.34041	0.549000	0.68633	ACG		0.358	RFC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000216808.1	NM_002913		27	45	0	0	0	1	0	27	45					A	39344069	G	A	39344069	3	1	435	1	0	0	0	0	1	0	0	0	13244	1145	40	1	3304	1	RFC1	4	39344069	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	25499	39344069	151810207	2280	23205											
KLB	152831	broad.mit.edu	37	chr4	39436200	39436200	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttcacttaatttaagagaagCgctgaactggattaaactgg	14	12	9	6	1	1	2	1	1	0	1	1	4	1	3	0	2	3	1	0	2	6	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:39436200C>T	ENST00000257408.4	+	2	1293	c.1196C>T	c.(1195-1197)gCg>gTg	p.A399V		NM_175737.3	NP_783864.1	Q86Z14	KLOTB_HUMAN	klotho beta	399	Glycosyl hydrolase-1 1.				carbohydrate metabolic process (GO:0005975)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway (GO:0090080)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	fibroblast growth factor binding (GO:0017134)|hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|skin(6)	29						TTAAGAGAAGCGCTGAACTGG	0.428																																						ENST00000257408.4																			0				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|skin(6)	29						c.(1195-1197)gCg>gTg		klotho beta							107	107	107					4																	39436200		2203	4300	6503	SO:0001583	missense	152831				carbohydrate metabolic process	integral to membrane|plasma membrane	cation binding|fibroblast growth factor binding|hydrolase activity, hydrolyzing O-glycosyl compounds	g.chr4:39436200C>T	AB079373	CCDS3451.1	4p14	2008-02-05			ENSG00000134962	ENSG00000134962			15527	protein-coding gene	gene with protein product		611135					Standard	NM_175737		Approved		uc003gua.3	Q86Z14	OTTHUMG00000128577	ENST00000257408.4:c.1196C>T	4.37:g.39436200C>T	ENSP00000257408:p.Ala399Val						p.A399V	NM_175737.3	NP_783864.1	Q86Z14	KLOTB_HUMAN			2	1293	+			399			Glycosyl hydrolase-1 1.		Q2M3K8	Missense_Mutation	SNP	ENST00000257408.4	37	c.1196C>T	CCDS3451.1	.	.	.	.	.	.	.	.	.	.	C	3.164	-0.171426	0.06421	.	.	ENSG00000134962	ENST00000257408	T	0.29397	1.57	6.06	1.05	0.20165	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.558047	0.19653	N	0.109161	T	0.11024	0.0269	N	0.01446	-0.86	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.04013	0.001;0.001	T	0.27262	-1.0079	10	0.32370	T	0.25	-11.7376	11.2598	0.49076	0.0:0.1932:0.0:0.8068	.	399;399	B7ZL50;Q86Z14	.;KLOTB_HUMAN	V	399	ENSP00000257408:A399V	ENSP00000257408:A399V	A	+	2	0	KLB	39112595	0.997000	0.39634	0.932000	0.37286	0.063000	0.16089	1.891000	0.39738	0.173000	0.19788	-1.099000	0.02127	GCG		0.428	KLB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250429.1	NM_175737		39	65	0	0	0	1	0	39	65					T	39436200	C	T	39436200	3	4	435	1	0	0	0	0	1	0	0	0	8332	768	27	1	1202	1	KLB	4	39436200	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	92131	39436200	151718076	2281	23206											
LIAS	11019	broad.mit.edu	37	chr4	39471653	39471653	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttccagtaaggttcgtgatcCtcgggccaattttgatcagt	8	14	10	9	2	1	2	1	2	0	0	5	2	3	2	3	2	0	2	3	2	2	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:39471653C>T	ENST00000513731.1	+	4	414	c.362C>T	c.(361-363)cCt>cTt	p.P121L	LIAS_ENST00000340169.2_Missense_Mutation_p.P251L|LIAS_ENST00000381846.1_Missense_Mutation_p.P208L|LIAS_ENST00000261434.3_Missense_Mutation_p.P251L					lipoic acid synthetase											breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(2)|ovary(2)	12						GTTCGTGATCCTCGGGCCAAT	0.423																																						ENST00000261434.3																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(2)|ovary(2)	12						c.(751-753)cCt>cTt		lipoic acid synthetase	Lipoic Acid(DB00166)						109	94	99					4																	39471653		2203	4300	6503	SO:0001583	missense	11019				inflammatory response|response to lipopolysaccharide|response to oxidative stress	mitochondrion	4 iron, 4 sulfur cluster binding|lipoate synthase activity|metal ion binding	g.chr4:39471653C>T	AJ224162	CCDS3453.1, CCDS3454.1, CCDS63950.1	4p14	2008-02-05			ENSG00000121897	ENSG00000121897			16429	protein-coding gene	gene with protein product		607031				11124703	Standard	NM_006859		Approved	LAS	uc003guf.3	O43766	OTTHUMG00000099369	ENST00000513731.1:c.362C>T	4.37:g.39471653C>T	ENSP00000425580:p.Pro121Leu					LIAS_ENST00000381846.1_Missense_Mutation_p.P208L|LIAS_ENST00000340169.2_Missense_Mutation_p.P251L|LIAS_ENST00000513731.1_Missense_Mutation_p.P121L	p.P251L	NM_006859.2	NP_006850.2	O43766	LIAS_HUMAN			8	870	+			251						Missense_Mutation	SNP	ENST00000513731.1	37	c.752C>T		.	.	.	.	.	.	.	.	.	.	C	19.08	3.757134	0.69648	.	.	ENSG00000121897	ENST00000340169;ENST00000261434;ENST00000513731;ENST00000381846	T;T;T;T	0.80738	-1.41;-1.41;-1.41;-1.03	5.84	5.0	0.66597	Elongator protein 3/MiaB/NifB (1);Aldolase-type TIM barrel (1);Radical SAM (1);	0.000000	0.85682	D	0.000000	D	0.90865	0.7130	M	0.92784	3.345	0.80722	D	1	B;P;P	0.52692	0.334;0.955;0.949	B;P;D	0.62955	0.251;0.843;0.909	D	0.91879	0.5514	10	0.46703	T	0.11	-10.1914	14.1453	0.65347	0.0:0.9282:0.0:0.0718	.	208;121;251	C9JCF6;D6RCP8;O43766	.;.;LIAS_HUMAN	L	251;251;121;208	ENSP00000340676:P251L;ENSP00000261434:P251L;ENSP00000425580:P121L;ENSP00000371270:P208L	ENSP00000261434:P251L	P	+	2	0	LIAS	39148048	1.000000	0.71417	0.999000	0.59377	0.991000	0.79684	7.423000	0.80229	1.469000	0.48083	0.655000	0.94253	CCT		0.423	LIAS-006	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000361037.1	NM_194451		5	58	0	0	0	1	0	5	58					T	39471653	C	T	39471653	3	4	435	1	0	0	0	0	1	0	0	0	8778	681	24	3	782	3	LIAS	4	39471653	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	35453	39471653	151682623	2282	23207											
N4BP2	55728	broad.mit.edu	37	chr4	40108585	40108585	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tgattatttttatataaatgGacagtaccagtttgatgtaa	14	17	7	3	0	0	2	0	2	0	0	0	3	0	3	1	1	1	3	1	1	7	9			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:40108585G>A	ENST00000261435.6	+	5	1855	c.1439G>A	c.(1438-1440)gGa>gAa	p.G480E		NM_018177.4	NP_060647.2	Q86UW6	N4BP2_HUMAN	NEDD4 binding protein 2	480					nucleic acid phosphodiester bond hydrolysis (GO:0090305)|phosphorylation (GO:0016310)	cytosol (GO:0005829)	ATP binding (GO:0005524)|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity (GO:0046404)|endonuclease activity (GO:0004519)			breast(4)|endometrium(3)|kidney(12)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	60						TATATAAATGGACAGTACCAG	0.333																																						ENST00000261435.6																			0				breast(4)|endometrium(3)|kidney(12)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	60						c.(1438-1440)gGa>gAa		NEDD4 binding protein 2							73	78	76					4																	40108585		2203	4299	6502	SO:0001583	missense	55728					cytoplasm	ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|endonuclease activity|protein binding	g.chr4:40108585G>A	AB037834	CCDS3457.1	4p14	2008-01-18			ENSG00000078177	ENSG00000078177			29851	protein-coding gene	gene with protein product	"BCL-3 binding protein"					10718198, 11717310	Standard	NM_018177		Approved	B3BP	uc003guy.4	Q86UW6	OTTHUMG00000128599	ENST00000261435.6:c.1439G>A	4.37:g.40108585G>A	ENSP00000261435:p.Gly480Glu						p.G480E	NM_018177.4	NP_060647.2	Q86UW6	N4BP2_HUMAN			5	1855	+			480					A0AVR3|Q9NVK2|Q9P2D4	Missense_Mutation	SNP	ENST00000261435.6	37	c.1439G>A	CCDS3457.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	25.6|25.6	4.653402|4.653402	0.88056|0.88056	.|.	.|.	ENSG00000078177|ENSG00000078177	ENST00000261435;ENST00000381804|ENST00000513269	T|.	0.49139|.	0.79|.	5.4|5.4	5.4|5.4	0.78164|0.78164	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.71995|.	0.3406|.	L|L	0.56124|0.56124	1.755|1.755	0.58432|0.58432	D|D	0.999999|0.999999	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.97110|.	1.0;1.0|.	T|.	0.68315|.	-0.5441|.	10|.	0.87932|.	D|.	0|.	-20.4309|-20.4309	19.5377|19.5377	0.95260|0.95260	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	480;480|.	Q86UW6-2;Q86UW6|.	.;N4BP2_HUMAN|.	E|X	480;400|126	ENSP00000261435:G480E|.	ENSP00000261435:G480E|.	G|W	+|+	2|3	0|0	N4BP2|N4BP2	39784980|39784980	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.992000|0.992000	0.81027|0.81027	4.639000|4.639000	0.61361|0.61361	2.689000|2.689000	0.91719|0.91719	0.591000|0.591000	0.81541|0.81541	GGA|TGG		0.333	N4BP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250458.2	NM_018177		20	41	0	0	0	1	0	20	41					A	40108585	G	A	40108585	3	1	435	1	0	0	0	0	1	0	0	0	10110	1174	41	3	1449	3	N4BP2	4	40108585	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	636932	40108585	151045691	2283	23208											
N4BP2	55728	broad.mit.edu	37	chr4	40123912	40123912	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acttaatgaattatttggtcCtgttggtattgattcaggta	10	18	9	4	0	1	2	1	2	0	0	2	2	2	2	1	3	0	3	1	3	5	8			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:40123912C>A	ENST00000261435.6	+	9	4597	c.4181C>A	c.(4180-4182)cCt>cAt	p.P1394H		NM_018177.4	NP_060647.2	Q86UW6	N4BP2_HUMAN	NEDD4 binding protein 2	1394					nucleic acid phosphodiester bond hydrolysis (GO:0090305)|phosphorylation (GO:0016310)	cytosol (GO:0005829)	ATP binding (GO:0005524)|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity (GO:0046404)|endonuclease activity (GO:0004519)			breast(4)|endometrium(3)|kidney(12)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	60						TTATTTGGTCCTGTTGGTATT	0.388																																						ENST00000261435.6																			0				breast(4)|endometrium(3)|kidney(12)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	60						c.(4180-4182)cCt>cAt		NEDD4 binding protein 2							94	104	101					4																	40123912		2202	4300	6502	SO:0001583	missense	55728					cytoplasm	ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|endonuclease activity|protein binding	g.chr4:40123912C>A	AB037834	CCDS3457.1	4p14	2008-01-18			ENSG00000078177	ENSG00000078177			29851	protein-coding gene	gene with protein product	"BCL-3 binding protein"					10718198, 11717310	Standard	NM_018177		Approved	B3BP	uc003guy.4	Q86UW6	OTTHUMG00000128599	ENST00000261435.6:c.4181C>A	4.37:g.40123912C>A	ENSP00000261435:p.Pro1394His						p.P1394H	NM_018177.4	NP_060647.2	Q86UW6	N4BP2_HUMAN			9	4597	+			1394					A0AVR3|Q9NVK2|Q9P2D4	Missense_Mutation	SNP	ENST00000261435.6	37	c.4181C>A	CCDS3457.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.967959	0.74131	.	.	ENSG00000078177	ENST00000261435;ENST00000381804	T	0.31510	1.49	5.96	5.96	0.96718	.	0.120880	0.56097	D	0.000031	T	0.52629	0.1746	L	0.46157	1.445	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.45220	-0.9276	10	0.59425	D	0.04	-17.5106	20.3861	0.98944	0.0:1.0:0.0:0.0	.	1394;1394	Q86UW6-2;Q86UW6	.;N4BP2_HUMAN	H	1394;1314	ENSP00000261435:P1394H	ENSP00000261435:P1394H	P	+	2	0	N4BP2	39800307	1.000000	0.71417	0.998000	0.56505	0.984000	0.73092	7.107000	0.77047	2.825000	0.97269	0.585000	0.79938	CCT		0.388	N4BP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250458.2	NM_018177		27	46	1	0	7.92952e-12	1	8.55149e-12	27	46					A	40123912	C	A	40123912	3	1	435	1	0	0	0	0	1	0	0	0	10110	681	24	5	4207	5	N4BP2	4	40123912	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	15327	40123912	151030364	2284	23209											
CHRNA9	55584	broad.mit.edu	37	chr4	40339294	40339294	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggcacgatgcctatctcaCgtgggaccgagatcagtacg	9	8	12	12	4	2	1	2	0	1	1	3	4	2	2	2	2	2	2	2	2	2	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:40339294C>T	ENST00000310169.2	+	3	417	c.278C>T	c.(277-279)aCg>aTg	p.T93M		NM_017581.3	NP_060051.2	Q9UGM1	ACHA9_HUMAN	cholinergic receptor, nicotinic, alpha 9 (neuronal)	93					detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|inner ear morphogenesis (GO:0042472)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|synaptic transmission (GO:0007268)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine-activated cation-selective channel activity (GO:0004889)|calcium channel activity (GO:0005262)			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(4)|stomach(1)	33					Galantamine(DB00674)|Nicotine(DB00184)	GCCTATCTCACGTGGGACCGA	0.483																																					Esophageal Squamous(115;1297 1602 22235 25158 43327)	ENST00000310169.2																			0				breast(4)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(4)|stomach(1)	33						c.(277-279)aCg>aTg		cholinergic receptor, nicotinic, alpha 9 (neuronal)	Nicotine(DB00184)						104	82	90					4																	40339294		2203	4300	6503	SO:0001583	missense	55584				elevation of cytosolic calcium ion concentration|synaptic transmission	cell junction|postsynaptic membrane	calcium channel activity|receptor activity	g.chr4:40339294C>T	AF227732	CCDS3459.1	4p14	2012-02-11	2012-02-07		ENSG00000174343	ENSG00000174343		"Cholinergic receptors", "Ligand-gated ion channels / Acetylcholine receptors, nicotinic"	14079	protein-coding gene	gene with protein product	"acetylcholine receptor, nicotinic, alpha 9 (neuronal)"	605116	"cholinergic receptor, nicotinic, alpha polypeptide 9"				Standard	NM_017581		Approved	NACHRA9	uc003gva.2	Q9UGM1	OTTHUMG00000099375	ENST00000310169.2:c.278C>T	4.37:g.40339294C>T	ENSP00000312663:p.Thr93Met						p.T93M	NM_017581.3	NP_060051.2	Q9UGM1	ACHA9_HUMAN			3	417	+			93					Q14CY7|Q4W5A2|Q9NYV2	Missense_Mutation	SNP	ENST00000310169.2	37	c.278C>T	CCDS3459.1	.	.	.	.	.	.	.	.	.	.	C	11.05	1.523392	0.27299	.	.	ENSG00000174343	ENST00000310169	T	0.79653	-1.29	5.83	2.97	0.34412	Neurotransmitter-gated ion-channel ligand-binding (3);	0.574147	0.20312	N	0.094820	T	0.78805	0.4341	L	0.45422	1.42	0.29053	N	0.884369	D	0.52996	0.957	P	0.56700	0.804	T	0.72134	-0.4382	10	0.72032	D	0.01	.	2.8507	0.05556	0.3226:0.3088:0.2829:0.0857	.	93	Q9UGM1	ACHA9_HUMAN	M	93	ENSP00000312663:T93M	ENSP00000312663:T93M	T	+	2	0	CHRNA9	40034051	0.978000	0.34361	0.976000	0.42696	0.375000	0.29983	2.543000	0.45752	0.763000	0.33175	0.591000	0.81541	ACG		0.483	CHRNA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216822.1			9	11	0	0	0	1	0	9	11					T	40339294	C	T	40339294	3	4	435	1	0	0	0	0	1	0	0	0	3389	536	19	1	288	1	CHRNA9	4	40339294	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	215382	40339294	150814982	2285	23210											
APBB2	323	broad.mit.edu	37	chr4	41016017	41016017	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cgaggaatcctgtgggtgggGctctttaccctctaacttct	6	13	11	11	1	3	0	0	0	3	0	4	2	4	1	2	4	2	1	2	4	3	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:41016017G>A	ENST00000295974.8	-	6	1047	c.418C>T	c.(418-420)Ccc>Tcc	p.P140S	APBB2_ENST00000506352.1_Missense_Mutation_p.P140S|APBB2_ENST00000513140.1_Missense_Mutation_p.P140S|APBB2_ENST00000508593.1_Missense_Mutation_p.P140S	NM_001166050.1|NM_004307.1	NP_001159522.1|NP_004298.1	Q92870	APBB2_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 2	140					axon guidance (GO:0007411)|cell cycle arrest (GO:0007050)|extracellular matrix organization (GO:0030198)|intracellular signal transduction (GO:0035556)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|neuron migration (GO:0001764)|positive regulation of apoptotic process (GO:0043065)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|membrane (GO:0016020)|nucleus (GO:0005634)|synapse (GO:0045202)	beta-amyloid binding (GO:0001540)|transcription factor binding (GO:0008134)			central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(3)|skin(2)|urinary_tract(1)	34						TGTGGGTGGGGCTCTTTACCC	0.517																																					Ovarian(3;20 75 16686 49997)	ENST00000295974.8																			0				central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(3)|skin(2)|urinary_tract(1)	34						c.(418-420)Ccc>Tcc		amyloid beta (A4) precursor protein-binding, family B, member 2							60	59	60					4																	41016017		1860	4105	5965	SO:0001583	missense	323				cell cycle arrest|intracellular signal transduction|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|regulation of transcription, DNA-dependent	growth cone|lamellipodium|membrane|nucleus|synapse	beta-amyloid binding|transcription factor binding	g.chr4:41016017G>A	U62325	CCDS43224.1, CCDS54760.1, CCDS54761.1, CCDS54762.1	4p13	2011-10-10	2008-07-31		ENSG00000163697	ENSG00000163697			582	protein-coding gene	gene with protein product	"Fe65-like"	602710				8955346, 9585438	Standard	NM_173075		Approved	FE65L, FE65L1, MGC35575	uc003gvn.3	Q92870	OTTHUMG00000160416	ENST00000295974.8:c.418C>T	4.37:g.41016017G>A	ENSP00000295974:p.Pro140Ser					APBB2_ENST00000508593.1_Missense_Mutation_p.P140S|APBB2_ENST00000513140.1_Missense_Mutation_p.P140S|APBB2_ENST00000506352.1_Missense_Mutation_p.P140S	p.P140S	NM_001166050.1|NM_004307.1	NP_001159522.1|NP_004298.1	Q92870	APBB2_HUMAN			6	1047	-			140					B4DSL4|E9PG87|Q8IUI6	Missense_Mutation	SNP	ENST00000295974.8	37	c.418C>T	CCDS54761.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	4.150|4.150	0.026328|0.026328	0.08054|0.08054	.|.	.|.	ENSG00000163697|ENSG00000163697	ENST00000513611|ENST00000295974;ENST00000316212;ENST00000513140;ENST00000508593;ENST00000506352;ENST00000509446	.|T;T;T;T;T	.|0.24538	.|1.85;1.85;1.85;1.85;1.85	5.71|5.71	3.02|3.02	0.34903|0.34903	.|.	.|0.664397	.|0.15886	.|N	.|0.239794	T|T	0.14527|0.14527	0.0351|0.0351	N|N	0.14661|0.14661	0.345|0.345	0.80722|0.80722	D|D	1|1	.|B;B;B;B	.|0.22604	.|0.072;0.001;0.003;0.001	.|B;B;B;B	.|0.24006	.|0.05;0.001;0.007;0.001	T|T	0.07849|0.07849	-1.0751|-1.0751	5|10	.|0.20046	.|T	.|0.44	-3.5712|-3.5712	10.3912|10.3912	0.44168|0.44168	0.0682:0.3871:0.5447:0.0|0.0682:0.3871:0.5447:0.0	.|.	.|123;140;140;140	.|B4DJ88;E9PG87;Q92870-2;Q92870	.|.;.;.;APBB2_HUMAN	V|S	129|140;139;140;140;140;123	.|ENSP00000295974:P140S;ENSP00000426018:P140S;ENSP00000427211:P140S;ENSP00000421539:P140S;ENSP00000424414:P123S	.|ENSP00000295974:P140S	A|P	-|-	2|1	0|0	APBB2|APBB2	40710774|40710774	0.994000|0.994000	0.37717|0.37717	0.985000|0.985000	0.45067|0.45067	0.017000|0.017000	0.09413|0.09413	1.267000|1.267000	0.33050|0.33050	0.754000|0.754000	0.32968|0.32968	-0.359000|-0.359000	0.07587|0.07587	GCC|CCC		0.517	APBB2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000360523.3	NM_173075		36	41	0	0	0	1	0	36	41					A	41016017	G	A	41016017	3	1	435	1	0	0	0	0	1	0	0	0	761	1203	42	3	1913	3	APBB2	4	41016017	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	676723	41016017	150138259	2286	23211											
PHOX2B	8929	broad.mit.edu	37	chr4	41748140	41748140	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgccgccgccgcctccattcGccccgcagctgggggtgggg	2	5	16	18	6	0	0	0	0	0	0	2	0	1	0	7	4	1	2	7	4	0	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:41748140G>A	ENST00000226382.2	-	3	988	c.629C>T	c.(628-630)gCg>gTg	p.A210V	RP11-227F19.1_ENST00000508038.1_RNA	NM_003924.3	NP_003915.2	Q99453	PHX2B_HUMAN	paired-like homeobox 2b	210					autonomic nervous system development (GO:0048483)|brainstem development (GO:0003360)|cell differentiation in hindbrain (GO:0021533)|cellular response to BMP stimulus (GO:0071773)|dopaminergic neuron differentiation (GO:0071542)|efferent axon development in a lateral line nerve (GO:0048894)|enteric nervous system development (GO:0048484)|glial cell differentiation (GO:0010001)|hindbrain tangential cell migration (GO:0021934)|inner ear development (GO:0048839)|medullary reticular formation development (GO:0021723)|negative regulation of cell cycle arrest (GO:0071157)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron differentiation (GO:0045665)|neural crest cell migration involved in autonomic nervous system development (GO:1901166)|neuron migration (GO:0001764)|noradrenergic neuron development (GO:0003358)|noradrenergic neuron differentiation (GO:0003357)|parasympathetic nervous system development (GO:0048486)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of gene expression (GO:0010468)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|respiratory system development (GO:0060541)|retrotrapezoid nucleus neuron differentiation (GO:0061452)|skeletal muscle cell differentiation (GO:0035914)|sympathetic ganglion development (GO:0061549)|sympathetic nervous system development (GO:0048485)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)	p.A210V(1)		autonomic_ganglia(7)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	30						gccTCCATTCGCCCCGCAGCT	0.756			"Mis, F"		neuroblastoma	neuroblastoma	congenital central hypoventilation syndrome		Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome																													ENST00000226382.2			yes	Rec	yes	familial neuroblastoma	4	4p12	8929	"Mis, F"	paired-like homeobox 2b	yes	congenital central hypoventilation syndrome	O		neuroblastoma	neuroblastoma		1	Substitution - Missense(1)	p.A210V(1)	urinary_tract(1)	autonomic_ganglia(7)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	30						c.(628-630)gCg>gTg		paired-like homeobox 2b							22	24	23					4																	41748140		2202	4299	6501	SO:0001583	missense	8929	Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome	Familial Cancer Database	Familial Neuroblastoma;CCHS, Ondine Curse, incl. Ondine-Hirschsprung Disease	positive regulation of transcription from RNA polymerase II promoter	nuclear chromatin	RNA polymerase II regulatory region sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity	g.chr4:41748140G>A	D82344	CCDS3463.1	4p13	2014-09-17	2003-02-10	2003-02-14	ENSG00000109132	ENSG00000109132		"Homeoboxes / PRD class"	9143	protein-coding gene	gene with protein product		603851	"paired mesoderm homeobox 2b"	PMX2B		9039501, 10395798	Standard	NM_003924		Approved	Phox2b, NBPhox	uc003gwf.4	Q99453	OTTHUMG00000099379	ENST00000226382.2:c.629C>T	4.37:g.41748140G>A	ENSP00000226382:p.Ala210Val						p.A210V	NM_003924.3	NP_003915.2	Q99453	PHX2B_HUMAN			3	988	-			210					Q6PJD9	Missense_Mutation	SNP	ENST00000226382.2	37	c.629C>T	CCDS3463.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.91|12.91	2.080063|2.080063	0.36662|0.36662	.|.	.|.	ENSG00000109132|ENSG00000109132	ENST00000226382|ENST00000510424	D|.	0.92495|.	-3.05|.	4.4|4.4	2.63|2.63	0.31362|0.31362	.|.	0.852543|.	0.09842|.	N|.	0.748704|.	T|.	0.17109|.	0.0411|.	N|N	0.08118|0.08118	0|0	0.09310|0.09310	N|N	1|1	B|.	0.13145|.	0.007|.	B|.	0.08055|.	0.003|.	T|.	0.25433|.	-1.0132|.	10|.	0.26408|.	T|.	0.33|.	.|.	6.5641|6.5641	0.22503|0.22503	0.1031:0.4131:0.4838:0.0|0.1031:0.4131:0.4838:0.0	.|.	210|.	Q99453|.	PHX2B_HUMAN|.	V|X	210|150	ENSP00000226382:A210V|.	ENSP00000226382:A210V|.	A|R	-|-	2|1	0|2	PHOX2B|PHOX2B	41442897|41442897	0.987000|0.987000	0.35691|0.35691	0.000000|0.000000	0.03702|0.03702	0.001000|0.001000	0.01503|0.01503	0.000000|0.000000	0.12993|0.12993	0.439000|0.439000	0.26476|0.26476	0.561000|0.561000	0.74099|0.74099	GCG|CGA		0.756	PHOX2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216832.2			19	32	0	0	0	1	0	19	32					A	41748140	G	A	41748140	3	1	435	1	0	0	0	0	1	0	0	0	11859	1087	38	1	319	1	PHOX2B	4	41748140	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	732123	41748140	149406136	2287	23212											
DCAF4L1	285429	broad.mit.edu	37	chr4	41984291	41984291	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctgtgcagtgctgctcccagCgtcgcggttcttaagtgttc	4	13	12	12	3	1	0	0	0	1	0	4	0	2	0	1	1	4	5	1	1	1	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:41984291C>T	ENST00000333141.5	+	1	579	c.482C>T	c.(481-483)gCg>gTg	p.A161V		NM_001029955.3	NP_001025126.2	Q3SXM0	DC4L1_HUMAN	DDB1 and CUL4 associated factor 4-like 1	161										breast(1)|endometrium(5)|kidney(6)|large_intestine(11)|lung(12)|prostate(1)|skin(1)	37						CTGCTCCCAGCGTCGCGGTTC	0.572																																						ENST00000333141.5																			0				breast(1)|endometrium(5)|kidney(6)|large_intestine(11)|lung(12)|prostate(1)|skin(1)	37						c.(481-483)gCg>gTg		DDB1 and CUL4 associated factor 4-like 1							93	88	90					4																	41984291		2203	4300	6503	SO:0001583	missense	285429							g.chr4:41984291C>T	BC035027	CCDS33978.1	4p13	2013-01-09	2009-07-17	2009-07-17		ENSG00000182308		"WD repeat domain containing"	27723	protein-coding gene	gene with protein product			"WD repeat domain 21B"	WDR21B			Standard	NM_001029955		Approved		uc003gwk.2	Q3SXM0		ENST00000333141.5:c.482C>T	4.37:g.41984291C>T	ENSP00000327796:p.Ala161Val						p.A161V	NM_001029955.3	NP_001025126.2	Q3SXM0	DC4L1_HUMAN			1	579	+			161					B3KVI3|Q3ZCW8|Q499Y5|Q9UFI0	Missense_Mutation	SNP	ENST00000333141.5	37	c.482C>T	CCDS33978.1	.	.	.	.	.	.	.	.	.	.	C	14.45	2.538577	0.45176	.	.	ENSG00000182308	ENST00000333141	T	0.70516	-0.49	0.688	-1.02	0.10135	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.046311	0.85682	D	0.000000	T	0.66356	0.2781	M	0.72894	2.215	0.35558	D	0.804415	D	0.53312	0.959	P	0.45971	0.499	T	0.68014	-0.5521	9	0.38643	T	0.18	.	.	.	.	.	161	Q3SXM0	DC4L1_HUMAN	V	161	ENSP00000327796:A161V	ENSP00000327796:A161V	A	+	2	0	DCAF4L1	41679048	0.994000	0.37717	0.177000	0.23020	0.190000	0.23558	3.170000	0.50816	-0.369000	0.08028	0.313000	0.20887	GCG		0.572	DCAF4L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360958.1	NM_001029955		26	46	0	0	0	1	0	26	46					T	41984291	C	T	41984291	3	4	435	1	0	0	0	0	1	0	0	0	4271	768	27	1	484	1	DCAF4L1	4	41984291	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	236151	41984291	149169985	2288	23213											
DCAF4L1	285429	broad.mit.edu	37	chr4	41984637	41984637	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gactcagcagtgacctctgtGcaaatcctccaagaagagca	13	7	9	12	0	2	3	1	1	1	2	4	4	4	3	3	0	3	3	3	0	3	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:41984637G>A	ENST00000333141.5	+	1	925	c.828G>A	c.(826-828)gtG>gtA	p.V276V		NM_001029955.3	NP_001025126.2	Q3SXM0	DC4L1_HUMAN	DDB1 and CUL4 associated factor 4-like 1	276										breast(1)|endometrium(5)|kidney(6)|large_intestine(11)|lung(12)|prostate(1)|skin(1)	37						TGACCTCTGTGCAAATCCTCC	0.527																																						ENST00000333141.5																			0				breast(1)|endometrium(5)|kidney(6)|large_intestine(11)|lung(12)|prostate(1)|skin(1)	37						c.(826-828)gtG>gtA		DDB1 and CUL4 associated factor 4-like 1							119	108	112					4																	41984637		2203	4300	6503	SO:0001819	synonymous_variant	285429							g.chr4:41984637G>A	BC035027	CCDS33978.1	4p13	2013-01-09	2009-07-17	2009-07-17		ENSG00000182308		"WD repeat domain containing"	27723	protein-coding gene	gene with protein product			"WD repeat domain 21B"	WDR21B			Standard	NM_001029955		Approved		uc003gwk.2	Q3SXM0		ENST00000333141.5:c.828G>A	4.37:g.41984637G>A							p.V276V	NM_001029955.3	NP_001025126.2	Q3SXM0	DC4L1_HUMAN			1	925	+			276					B3KVI3|Q3ZCW8|Q499Y5|Q9UFI0	Silent	SNP	ENST00000333141.5	37	c.828G>A	CCDS33978.1																																																																																				0.527	DCAF4L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360958.1	NM_001029955		6	76	0	0	0	1	0	6	76					A	41984637	G	A	41984637	2	1	435	1	0	0	0	0	0	0	0	1	4271	1306	46	3		3	DCAF4L1	4	41984637	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	346	41984637	149169639	2289	23214											
BEND4	389206	broad.mit.edu	37	chr4	42119708	42119708	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gtttatctgctcttccgaggGcatccaccaatcggggttgg	6	12	12	11	2	2	0	0	0	2	0	5	1	4	0	3	4	1	4	3	4	2	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:42119708G>A	ENST00000502486.1	-	6	2011	c.1432C>T	c.(1432-1434)Ccc>Tcc	p.P478S	BEND4_ENST00000504360.1_3'UTR	NM_207406.3	NP_997289.2	Q6ZU67	BEND4_HUMAN	BEN domain containing 4	478	BEN. {ECO:0000255|PROSITE- ProRule:PRU00784}.									NS(2)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(15)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	26						TCTTCCGAGGGCATCCACCAA	0.493																																						ENST00000502486.1																			0				NS(2)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(15)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	26						c.(1432-1434)Ccc>Tcc		BEN domain containing 4							32	31	31					4																	42119708		1858	4093	5951	SO:0001583	missense	389206							g.chr4:42119708G>A	AK092951	CCDS47048.1	4p13	2012-11-22	2008-10-03	2008-10-03	ENSG00000188848	ENSG00000188848		"BEN domain containing"	23815	protein-coding gene	gene with protein product			"coiled-coil domain containing 4"	CCDC4			Standard	NM_207406		Approved	FLJ35632, FLJ43965	uc003gwn.3	Q6ZU67	OTTHUMG00000160531	ENST00000502486.1:c.1432C>T	4.37:g.42119708G>A	ENSP00000421169:p.Pro478Ser					BEND4_ENST00000504360.1_3'UTR	p.P478S	NM_207406.3	NP_997289.2	Q6ZU67	BEND4_HUMAN			6	2011	-			478			BEN.		A1A5D6|A1A5D7|C9JQZ5|Q58A26|Q58A27	Missense_Mutation	SNP	ENST00000502486.1	37	c.1432C>T	CCDS47048.1	.	.	.	.	.	.	.	.	.	.	G	33	5.235862	0.95240	.	.	ENSG00000188848	ENST00000411720;ENST00000502486	T	0.39787	1.06	5.41	5.41	0.78517	BEN domain (2);	0.000000	0.85682	D	0.000000	T	0.48021	0.1477	N	0.08118	0	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.60434	-0.7264	10	0.87932	D	0	-2.6234	19.5583	0.95363	0.0:0.0:1.0:0.0	.	478	Q6ZU67	BEND4_HUMAN	S	349;478	ENSP00000421169:P478S	ENSP00000412495:P349S	P	-	1	0	BEND4	41814465	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.420000	0.97426	2.691000	0.91804	0.561000	0.74099	CCC		0.493	BEND4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360975.2	NM_207406		3	7	0	0	0	1	0	3	7					A	42119708	G	A	42119708	3	1	435	1	0	0	0	0	1	0	0	0	1400	1203	42	3	176	3	BEND4	4	42119708	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	135071	42119708	149034568	2290	23215											
SHISA3	152573	broad.mit.edu	37	chr4	42403327	42403327	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctgcctggtgccctcaccGcccccgccatacaccaccag	6	5	9	21	2	1	0	1	0	0	0	1	0	1	0	8	2	3	1	8	2	1	1	rs368874056		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:42403327G>A	ENST00000319234.4	+	2	794	c.576G>A	c.(574-576)ccG>ccA	p.P192P		NM_001080505.1	NP_001073974.1	A0PJX4	SHSA3_HUMAN	shisa family member 3	192	Poly-Pro.				multicellular organismal development (GO:0007275)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	12						TGCCCTCACCGCCCCCGCCAT	0.662																																						ENST00000319234.4																			0				endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	12						c.(574-576)ccG>ccA		shisa family member 3		G		1,4405	2.1+/-5.4	0,1,2202	44	44	44		576	-10.3	0	4		44	0,8600		0,0,4300	no	coding-synonymous	SHISA3	NM_001080505.1		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		192/239	42403327	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	152573				multicellular organismal development	endoplasmic reticulum membrane|integral to membrane		g.chr4:42403327G>A	BC012029	CCDS33979.1	4p13	2013-07-31	2013-07-31		ENSG00000178343	ENSG00000178343		"Shisa homologs"	25159	protein-coding gene	gene with protein product			"shisa homolog 3 (Xenopus laevis)"				Standard	NM_001080505		Approved	hShisa3	uc003gwp.3	A0PJX4	OTTHUMG00000161043	ENST00000319234.4:c.576G>A	4.37:g.42403327G>A							p.P192P	NM_001080505.1	NP_001073974.1	A0PJX4	SHSA3_HUMAN			2	794	+			192			Poly-Pro.		A0PJX3|Q96EQ5	Silent	SNP	ENST00000319234.4	37	c.576G>A	CCDS33979.1																																																																																				0.662	SHISA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363539.1	NM_001080505		18	22	0	0	0	1	0	18	22					A	42403327	G	A	42403327	2	1	435	1	0	0	0	0	0	0	0	1	14281	1074	38	1		1	SHISA3	4	42403327	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	283619	42403327	148750949	2291	23216											
ATP8A1	10396	broad.mit.edu	37	chr4	42596331	42596331	+	Intron	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgagagaagtacagtgtcagCaggtatatactctttgcctt	11	13	10	7	0	2	2	1	1	1	1	2	3	2	2	1	1	4	3	1	1	5	6			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:42596331C>T	ENST00000381668.5	-	7	682				ATP8A1_ENST00000264449.10_Missense_Mutation_p.A167T	NM_006095.2	NP_006086.1	Q9Y2Q0	AT8A1_HUMAN	ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1						cation transmembrane transport (GO:0098655)|ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|transmembrane transport (GO:0055085)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	51					Phosphatidylserine(DB00144)	ACAGTGTCAGCAGGTATATAC	0.373																																						ENST00000264449.10																			0				NS(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	51						c.(499-501)Gct>Act		ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1	Phosphatidylserine(DB00144)						182	179	180					4																	42596331		1851	4083	5934	SO:0001627	intron_variant	10396				ATP biosynthetic process	chromaffin granule membrane|integral to membrane|plasma membrane	aminophospholipid transporter activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr4:42596331C>T	AF067820	CCDS3466.1, CCDS47049.1	4p13	2010-04-20	2007-09-19		ENSG00000124406	ENSG00000124406		"ATPases / P-type"	13531	protein-coding gene	gene with protein product		609542	"ATPase, aminophospholipid transporter (APLT), Class I, type 8A, member 1"			10198212, 9548971	Standard	NM_006095		Approved	ATPIA	uc003gwr.2	Q9Y2Q0	OTTHUMG00000099403	ENST00000381668.5:c.451-3430G>A	4.37:g.42596331C>T						ATP8A1_ENST00000381668.5_Intron	p.A167T	NM_001105529.1	NP_001098999.1	Q9Y2Q0	AT8A1_HUMAN			7	718	-			167					Q32M35|Q32M36|Q4W5J7|Q4W5P2	Missense_Mutation	SNP	ENST00000381668.5	37	c.499G>A	CCDS3466.1	.	.	.	.	.	.	.	.	.	.	C	28.5	4.924708	0.92319	.	.	ENSG00000124406	ENST00000264449	D	0.94184	-3.37	5.7	5.7	0.88788	.	.	.	.	.	D	0.97920	0.9316	H	0.95187	3.635	0.80722	D	1	D	0.89917	1.0	D	0.78314	0.991	D	0.98616	1.0665	9	0.87932	D	0	.	19.8201	0.96590	0.0:1.0:0.0:0.0	.	167	Q32M35	.	T	167	ENSP00000264449:A167T	ENSP00000264449:A167T	A	-	1	0	ATP8A1	42291088	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.745000	0.74860	2.693000	0.91896	0.563000	0.77884	GCT		0.373	ATP8A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000216861.2	NM_006095		26	60	0	0	0	1	0	26	60					T	42596331	C	T	42596331	1	4	435	0	1	0	0	0	0	0	0	0	1192	710	25	3		3	ATP8A1	4	42596331	Intron	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	193004	42596331	148557945	2292	23217											
GABRG1	2565	broad.mit.edu	37	chr4	46067556	46067556	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggtactattgaattttaaacGactgtcaaaccaggtttggg	12	13	10	6	1	1	1	1	1	0	0	1	2	1	1	1	3	3	2	1	3	6	6	rs267600168		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:46067556G>A	ENST00000295452.4	-	4	534	c.367C>T	c.(367-369)Cgt>Tgt	p.R123C		NM_173536.3	NP_775807.2	Q8N1C3	GBRG1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 1	123					gamma-aminobutyric acid signaling pathway (GO:0007214)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	76				Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	AATTTTAAACGACTGTCAAAC	0.289																																						ENST00000295452.4																			0				breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	76						c.(367-369)Cgt>Tgt		gamma-aminobutyric acid (GABA) A receptor, gamma 1							49	49	49					4																	46067556		2203	4300	6503	SO:0001583	missense	2565				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity	g.chr4:46067556G>A	BC031087	CCDS3470.1	4p12	2012-06-22			ENSG00000163285	ENSG00000163285		"GABA receptors", "Ligand-gated ion channels / GABA(A) receptors"	4086	protein-coding gene	gene with protein product	"GABA(A) receptor, gamma"	137166				1321425	Standard	NM_173536		Approved		uc003gxb.3	Q8N1C3	OTTHUMG00000128609	ENST00000295452.4:c.367C>T	4.37:g.46067556G>A	ENSP00000295452:p.Arg123Cys						p.R123C	NM_173536.3	NP_775807.2	Q8N1C3	GBRG1_HUMAN		Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23)	4	534	-			123					Q5H9T8	Missense_Mutation	SNP	ENST00000295452.4	37	c.367C>T	CCDS3470.1	.	.	.	.	.	.	.	.	.	.	G	19.14	3.769612	0.69992	.	.	ENSG00000163285	ENST00000295452;ENST00000540030	D	0.82344	-1.6	5.08	5.08	0.68730	Neurotransmitter-gated ion-channel ligand-binding (3);	0.000000	0.85682	D	0.000000	D	0.94768	0.8311	H	0.97829	4.085	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96719	0.9531	10	0.87932	D	0	.	17.8218	0.88652	0.0:0.0:1.0:0.0	.	123	Q8N1C3	GBRG1_HUMAN	C	123	ENSP00000295452:R123C	ENSP00000295452:R123C	R	-	1	0	GABRG1	45762313	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.050000	0.49877	2.513000	0.84729	0.508000	0.49915	CGT		0.289	GABRG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250470.1	NM_173536		10	18	0	0	0	1	0	10	18					A	46067556	G	A	46067556	3	1	435	1	0	0	0	0	1	0	0	0	6171	1058	37	2	1054	2	GABRG1	4	46067556	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	3471225	46067556	145086720	2293	23218											
GABRB1	2560	broad.mit.edu	37	chr4	47427967	47427967	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaattccatagacaagtggTcccgaatgtttttccccatc	10	13	7	11	1	0	2	0	1	0	1	4	3	3	2	4	1	0	1	4	1	4	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:47427967T>C	ENST00000295454.3	+	9	1649	c.1357T>C	c.(1357-1359)Tcc>Ccc	p.S453P	GABRB1_ENST00000538619.1_Missense_Mutation_p.S383P	NM_000812.3	NP_000803.2	P18505	GBRB1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 1	453					cellular response to histamine (GO:0071420)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|GABA-A receptor complex (GO:1902711)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)|ligand-gated ion channel activity (GO:0015276)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44					Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Gamma Hydroxybutyric Acid(DB01440)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lindane(DB00431)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	AGACAAGTGGTCCCGAATGTT	0.488																																						ENST00000295454.3																			0				central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						c.(1357-1359)Tcc>Ccc		gamma-aminobutyric acid (GABA) A receptor, beta 1	Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)						113	109	110					4																	47427967		2203	4300	6503	SO:0001583	missense	2560				synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chr4:47427967T>C		CCDS3474.1	4p12	2012-06-22			ENSG00000163288	ENSG00000163288		"GABA receptors", "Ligand-gated ion channels / GABA(A) receptors"	4081	protein-coding gene	gene with protein product	"GABA(A) receptor, beta 1"	137190					Standard	NM_000812		Approved		uc003gxh.3	P18505	OTTHUMG00000044269	ENST00000295454.3:c.1357T>C	4.37:g.47427967T>C	ENSP00000295454:p.Ser453Pro					GABRB1_ENST00000538619.1_Missense_Mutation_p.S383P	p.S453P	NM_000812.3	NP_000803.2	P18505	GBRB1_HUMAN			9	1649	+			453					B2R6U7|D6REL3|Q16166|Q8TBK3	Missense_Mutation	SNP	ENST00000295454.3	37	c.1357T>C	CCDS3474.1	.	.	.	.	.	.	.	.	.	.	T	25.2	4.609203	0.87258	.	.	ENSG00000163288	ENST00000295454;ENST00000538619	D;D	0.87179	-2.22;-2.22	5.34	5.34	0.76211	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.138996	0.49305	D	0.000143	D	0.94918	0.8357	M	0.92970	3.365	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.85130	0.997;0.996	D	0.96016	0.9005	10	0.87932	D	0	-19.6964	15.4821	0.75537	0.0:0.0:0.0:1.0	.	383;453	F5GXV5;P18505	.;GBRB1_HUMAN	P	453;383	ENSP00000295454:S453P;ENSP00000440330:S383P	ENSP00000295454:S453P	S	+	1	0	GABRB1	47122724	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.757000	0.85209	2.244000	0.73946	0.528000	0.53228	TCC		0.488	GABRB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216896.1			11	146	0	0	0	1	0	11	146					C	47427967	T	C	47427967	3	2	435	1	0	0	0	0	1	0	0	0	6166	1667	58	4	1391	4	GABRB1	4	47427967	Missense_Mutation	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	1360411	47427967	143726309	2294	23219											
GABRB1	2560	broad.mit.edu	37	chr4	47428008	47428008	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	accttttctctttttaatgtCgtctattggctttactatgt	6	22	5	8	1	2	0	0	0	2	0	4	0	2	0	1	1	1	1	1	1	4	10			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:47428008C>T	ENST00000295454.3	+	9	1690	c.1398C>T	c.(1396-1398)gtC>gtT	p.V466V	GABRB1_ENST00000538619.1_Silent_p.V396V	NM_000812.3	NP_000803.2	P18505	GBRB1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 1	466					cellular response to histamine (GO:0071420)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|GABA-A receptor complex (GO:1902711)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)|ligand-gated ion channel activity (GO:0015276)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44					Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Gamma Hydroxybutyric Acid(DB01440)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lindane(DB00431)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	TTTTTAATGTCGTCTATTGGC	0.418																																						ENST00000295454.3																			0				central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						c.(1396-1398)gtC>gtT		gamma-aminobutyric acid (GABA) A receptor, beta 1	Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)						97	94	95					4																	47428008		2202	4298	6500	SO:0001819	synonymous_variant	2560				synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chr4:47428008C>T		CCDS3474.1	4p12	2012-06-22			ENSG00000163288	ENSG00000163288		"GABA receptors", "Ligand-gated ion channels / GABA(A) receptors"	4081	protein-coding gene	gene with protein product	"GABA(A) receptor, beta 1"	137190					Standard	NM_000812		Approved		uc003gxh.3	P18505	OTTHUMG00000044269	ENST00000295454.3:c.1398C>T	4.37:g.47428008C>T						GABRB1_ENST00000538619.1_Silent_p.V396V	p.V466V	NM_000812.3	NP_000803.2	P18505	GBRB1_HUMAN			9	1690	+			466					B2R6U7|D6REL3|Q16166|Q8TBK3	Silent	SNP	ENST00000295454.3	37	c.1398C>T	CCDS3474.1																																																																																				0.418	GABRB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216896.1			46	76	0	0	0	1	0	46	76					T	47428008	C	T	47428008	2	4	435	1	0	0	0	0	0	0	0	1	6166	871	31	2		2	GABRB1	4	47428008	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	41	47428008	143726268	2295	23220											
COMMD8	54951	broad.mit.edu	37	chr4	47455227	47455227	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caatcttgtcactggaaagtGcaagctgtttaaaatcagaa	15	11	8	7	0	3	1	2	0	1	1	3	2	3	2	0	1	2	3	0	1	6	3	rs77794579	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:47455227G>A	ENST00000381571.4	-	4	447	c.380C>T	c.(379-381)gCa>gTa	p.A127V		NM_017845.3	NP_060315.1	Q9NX08	COMD8_HUMAN	COMM domain containing 8	127	COMM. {ECO:0000255|PROSITE- ProRule:PRU00602}.			A -> L (in Ref. 4; AAH19826). {ECO:0000305}.						large_intestine(2)|lung(5)|prostate(1)	8						ACTGGAAAGTGCAAGCTGTTT	0.299													G|||	8	0.00159744	0	0	5008	,	,		18391	0.0079		0	False		,,,				2504	0					ENST00000381571.4																			0				large_intestine(2)|lung(5)|prostate(1)	8						c.(379-381)gCa>gTa		COMM domain containing 8		G	VAL/ALA	0,4406		0,0,2203	55	54	55		380	5.1	1	4	dbSNP_131	55	1,8599	1.2+/-3.3	0,1,4299	yes	missense	COMMD8	NM_017845.3	64	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	127/184	47455227	1,13005	2203	4300	6503	SO:0001583	missense	54951						protein binding	g.chr4:47455227G>A	AY542163	CCDS3475.1	4p12	2008-02-05			ENSG00000169019	ENSG00000169019			26036	protein-coding gene	gene with protein product						15799966	Standard	NM_017845		Approved	FLJ20502	uc003gxi.3	Q9NX08	OTTHUMG00000099435	ENST00000381571.4:c.380C>T	4.37:g.47455227G>A	ENSP00000370984:p.Ala127Val						p.A127V	NM_017845.3	NP_060315.1	Q9NX08	COMD8_HUMAN			4	447	-			127	A -> L (in Ref. 4; AAH19826).		COMM.		Q8WUR4|Q9HC15	Missense_Mutation	SNP	ENST00000381571.4	37	c.380C>T	CCDS3475.1	7	0.003205128205128205	0	0.0	0	0.0	7	0.012237762237762238	0	0.0	G	16.93	3.258306	0.59321	0.0	1.16E-4	ENSG00000169019	ENST00000381571	T	0.10477	2.87	5.9	5.06	0.68205	COMM domain (1);	0.000000	0.85682	D	0.000000	T	0.08313	0.0207	L	0.51853	1.615	0.80722	D	1	P	0.39443	0.674	B	0.38842	0.283	T	0.13791	-1.0496	10	0.15066	T	0.55	-23.9892	14.1915	0.65641	0.0728:0.0:0.9272:0.0	.	127	Q9NX08	COMD8_HUMAN	V	127	ENSP00000370984:A127V	ENSP00000370984:A127V	A	-	2	0	COMMD8	47149984	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.874000	0.69652	1.496000	0.48567	0.650000	0.86243	GCA		0.299	COMMD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216898.2	NM_017845		24	28	0	0	0	1	0	24	28					A	47455227	G	A	47455227	3	1	435	1	0	0	0	0	1	0	0	0	3722	1319	46	3	179	3	COMMD8	4	47455227	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	27219	47455227	143699049	2296	23221											
NIPAL1	152519	broad.mit.edu	37	chr4	48037777	48037777	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagccagtttacaaacatcCgctggtctttgttttgctgg	8	14	10	9	1	1	0	0	0	1	0	2	1	2	0	2	2	4	4	2	2	3	5	rs139075175	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:48037777C>T	ENST00000295461.5	+	6	887	c.821C>T	c.(820-822)cCg>cTg	p.P274L		NM_207330.1	NP_997213.1	Q6NVV3	NIPA3_HUMAN	NIPA-like domain containing 1	274						integral component of membrane (GO:0016021)	magnesium ion transmembrane transporter activity (GO:0015095)			endometrium(2)|large_intestine(1)|lung(3)|skin(2)	8						TACAAACATCCGCTGGTCTTT	0.423													C|||	2	0.000399361	0.0015	0	5008	,	,		20716	0		0	False		,,,				2504	0					ENST00000295461.5																			0				endometrium(2)|large_intestine(1)|lung(3)|skin(2)	8						c.(820-822)cCg>cTg		NIPA-like domain containing 1		C	LEU/PRO	14,4392	21.2+/-45.6	0,14,2189	99	90	93		821	5.6	0.5	4	dbSNP_134	93	0,8600		0,0,4300	yes	missense	NIPAL1	NM_207330.1	98	0,14,6489	TT,TC,CC		0.0,0.3177,0.1076	probably-damaging	274/411	48037777	14,12992	2203	4300	6503	SO:0001583	missense	152519					integral to membrane		g.chr4:48037777C>T	BC067881	CCDS3479.1	4p12	2009-03-24		2009-03-24	ENSG00000163293	ENSG00000163293			27194	protein-coding gene	gene with protein product				NPAL1			Standard	NM_207330		Approved	DKFZp686A06115	uc003gxw.3	Q6NVV3	OTTHUMG00000128622	ENST00000295461.5:c.821C>T	4.37:g.48037777C>T	ENSP00000295461:p.Pro274Leu						p.P274L	NM_207330.1	NP_997213.1	Q6NVV3	NIPA3_HUMAN			6	887	+			274					B3KTB0|Q68DA9	Missense_Mutation	SNP	ENST00000295461.5	37	c.821C>T	CCDS3479.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	17.33	3.361572	0.61403	0.003177	0.0	ENSG00000163293	ENST00000295461	D	0.90069	-2.61	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	D	0.94847	0.8335	M	0.80028	2.48	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.94256	0.7498	9	.	.	.	.	19.7003	0.96050	0.0:1.0:0.0:0.0	.	274	Q6NVV3	NIPA3_HUMAN	L	274	ENSP00000295461:P274L	.	P	+	2	0	NIPAL1	47732534	1.000000	0.71417	0.462000	0.27118	0.014000	0.08584	7.647000	0.83462	2.657000	0.90304	0.655000	0.94253	CCG		0.423	NIPAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250491.4	NM_207330		23	38	0	0	0	1	0	23	38					T	48037777	C	T	48037777	3	4	435	1	0	0	0	0	1	0	0	0	10424	652	23	2	843	2	NIPAL1	4	48037777	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	582550	48037777	143116499	2297	23222											
TEC	7006	broad.mit.edu	37	chr4	48147115	48147115	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccagatctctgtggatgaagCtgtttctctccagatactcc	8	13	8	12	0	2	3	0	1	2	2	6	4	4	4	3	1	2	2	3	1	2	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:48147115C>T	ENST00000381501.3	-	14	1608	c.1451G>A	c.(1450-1452)aGc>aAc	p.S484N	TEC_ENST00000511471.2_5'UTR	NM_003215.2	NP_003206.2	P42680	TEC_HUMAN	tec protein tyrosine kinase	484	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				B cell receptor signaling pathway (GO:0050853)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|intracellular signal transduction (GO:0035556)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein phosphorylation (GO:0006468)|regulation of platelet activation (GO:0010543)|tissue regeneration (GO:0042246)	cell-cell junction (GO:0005911)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|lipid binding (GO:0008289)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)			breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(1)|prostate(2)|skin(2)|stomach(1)	31						GTGGATGAAGCTGTTTCTCTC	0.458																																						ENST00000381501.3																			0				breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(1)|prostate(2)|skin(2)|stomach(1)	31						c.(1450-1452)aGc>aAc		tec protein tyrosine kinase							192	167	176					4																	48147115		2203	4300	6503	SO:0001583	missense	7006				intracellular protein kinase cascade	cytosol	ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding	g.chr4:48147115C>T	D29767	CCDS3481.1	4p12	2013-02-14			ENSG00000135605	ENSG00000135605		"Pleckstrin homology (PH) domain containing", "SH2 domain containing"	11719	protein-coding gene	gene with protein product		600583				7934162	Standard	NM_003215		Approved	PSCTK4	uc003gxz.3	P42680	OTTHUMG00000128623	ENST00000381501.3:c.1451G>A	4.37:g.48147115C>T	ENSP00000370912:p.Ser484Asn					TEC_ENST00000511471.2_5'UTR	p.S484N	NM_003215.2	NP_003206.2	P42680	TEC_HUMAN			14	1608	-			484			Protein kinase.		B7ZKZ6|Q3MIS5	Missense_Mutation	SNP	ENST00000381501.3	37	c.1451G>A	CCDS3481.1	.	.	.	.	.	.	.	.	.	.	C	3.847	-0.032636	0.07543	.	.	ENSG00000135605	ENST00000381501	T	0.60920	0.15	5.61	5.61	0.85477	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.110215	0.64402	D	0.000003	T	0.25901	0.0631	N	0.01522	-0.82	0.34273	D	0.681197	B	0.02656	0.0	B	0.08055	0.003	T	0.31916	-0.9926	10	0.02654	T	1	.	12.9085	0.58166	0.0:0.9259:0.0:0.0741	.	484	P42680	TEC_HUMAN	N	484	ENSP00000370912:S484N	ENSP00000370912:S484N	S	-	2	0	TEC	47841872	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.476000	0.45171	2.663000	0.90544	0.491000	0.48974	AGC		0.458	TEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250492.3			43	62	0	0	0	1	0	43	62					T	48147115	C	T	48147115	3	4	435	1	0	0	0	0	1	0	0	0	15739	797	28	3	464	3	TEC	4	48147115	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	109338	48147115	143007161	2298	23223											
SLAIN2	57606	broad.mit.edu	37	chr4	48422198	48422198	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catctcctttggctcttcggCaaccagtgaaagcatttagt	9	13	8	11	1	2	1	0	1	2	0	4	1	2	1	2	2	2	3	2	2	3	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:48422198C>T	ENST00000264313.6	+	7	1835	c.1417C>T	c.(1417-1419)Caa>Taa	p.Q473*	SLAIN2_ENST00000512093.1_Nonsense_Mutation_p.Q306*	NM_020846.1	NP_065897.1	Q9P270	SLAI2_HUMAN	SLAIN motif family, member 2	473					cytoplasmic microtubule organization (GO:0031122)|microtubule nucleation (GO:0007020)|positive regulation of microtubule polymerization (GO:0031116)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|prostate(1)	13						GGCTCTTCGGCAACCAGTGAA	0.488																																						ENST00000264313.6																			0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|prostate(1)	13						c.(1417-1419)Caa>Taa		SLAIN motif family, member 2							94	90	91					4																	48422198		1985	4159	6144	SO:0001587	stop_gained	57606					centrosome		g.chr4:48422198C>T	BC006139	CCDS47051.1	4p12	2008-02-05	2006-09-12	2006-09-12	ENSG00000109171	ENSG00000109171			29282	protein-coding gene	gene with protein product		610492	"KIAA1458"	KIAA1458		16546155	Standard	NM_020846		Approved	FLJ21611	uc003gya.4	Q9P270	OTTHUMG00000161701	ENST00000264313.6:c.1417C>T	4.37:g.48422198C>T	ENSP00000264313:p.Gln473*					SLAIN2_ENST00000512093.1_Nonsense_Mutation_p.Q306*	p.Q473*	NM_020846.1	NP_065897.1	Q9P270	SLAI2_HUMAN			7	1835	+			473					A8K4P1|Q8N5R3	Nonsense_Mutation	SNP	ENST00000264313.6	37	c.1417C>T	CCDS47051.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.15|19.15	3.772538|3.772538	0.69992|0.69992	.|.	.|.	ENSG00000109171|ENSG00000109171	ENST00000510595|ENST00000264313;ENST00000512093	.|.	.|.	.|.	5.02|5.02	5.02|5.02	0.67125|0.67125	.|.	.|0.114057	.|0.64402	.|D	.|0.000010	T|.	0.77491|.	0.4138|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.80636|.	-0.1294|.	3|.	.|0.72032	.|D	.|0.01	-7.1498|-7.1498	18.3366|18.3366	0.90290|0.90290	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	V|X	81|473;306	.|.	.|ENSP00000264313:Q473X	A|Q	+|+	2|1	0|0	SLAIN2|SLAIN2	48116955|48116955	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.683000|0.683000	0.39861|0.39861	6.429000|6.429000	0.73387|0.73387	2.346000|2.346000	0.79739|0.79739	0.557000|0.557000	0.71058|0.71058	GCA|CAA		0.488	SLAIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365807.4	NM_020846		18	22	0	0	0	1	0	18	22					T	48422198	C	T	48422198	4	4	435	1	0	0	0	0	0	1	0	0	14366	711	25	3	1443	3	SLAIN2	4	48422198	Nonsense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	275083	48422198	142732078	2299	23224											
FRYL	285527	broad.mit.edu	37	chr4	48514664	48514664	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atggtgacggcagaggcgacGtctgtacttctggaaaacca	11	8	13	9	3	2	2	0	1	2	1	2	4	2	3	1	4	2	2	1	4	3	2	rs372544952		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:48514664G>A	ENST00000503238.1	-	54	7978	c.7979C>T	c.(7978-7980)aCg>aTg	p.T2660M	FRYL_ENST00000537810.1_Missense_Mutation_p.T2660M|FRYL_ENST00000507873.2_Missense_Mutation_p.T56M|FRYL_ENST00000358350.4_Missense_Mutation_p.T2660M|FRYL_ENST00000264319.7_Missense_Mutation_p.T56M			O94915	FRYL_HUMAN	FRY-like	2660					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)					breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						CAGAGGCGACGTCTGTACTTC	0.443																																						ENST00000537810.1																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						c.(7978-7980)aCg>aTg		FRY-like		G	MET/THR	0,4106		0,0,2053	73	77	76		7979	4	0.1	4		76	1,8413		0,1,4206	no	missense	FRYL	NM_015030.1	81	0,1,6259	AA,AG,GG		0.0119,0.0,0.0080	possibly-damaging	2660/3014	48514664	1,12519	2053	4207	6260	SO:0001583	missense	285527				regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding	g.chr4:48514664G>A	AL833170	CCDS43227.1	4p12	2011-08-03	2006-11-17	2005-11-24	ENSG00000075539	ENSG00000075539			29127	protein-coding gene	gene with protein product			"KIAA0826", "furry homolog-like (Drosophila)"	KIAA0826		10048485	Standard	NM_015030		Approved	DKFZp686E205	uc003gyh.1	O94915	OTTHUMG00000160608	ENST00000503238.1:c.7979C>T	4.37:g.48514664G>A	ENSP00000426064:p.Thr2660Met					FRYL_ENST00000507873.2_Missense_Mutation_p.T56M|FRYL_ENST00000264319.7_Missense_Mutation_p.T56M|FRYL_ENST00000503238.1_Missense_Mutation_p.T2660M|FRYL_ENST00000358350.4_Missense_Mutation_p.T2660M	p.T2660M			O94915	FRYL_HUMAN			57	8583	-			2660					O95640|Q8WTZ5|Q9NT40	Missense_Mutation	SNP	ENST00000503238.1	37	c.7979C>T	CCDS43227.1	.	.	.	.	.	.	.	.	.	.	G	12.41	1.929514	0.34096	0.0	1.19E-4	ENSG00000075539	ENST00000503238;ENST00000358350;ENST00000537810;ENST00000264319;ENST00000507873	T;T;T	0.23950	1.88;1.88;1.89	4.8	3.96	0.45880	.	0.153570	0.43110	U	0.000607	T	0.32971	0.0847	L	0.43152	1.355	0.48762	D	0.999705	P;P;P	0.52463	0.771;0.853;0.953	B;P;P	0.51999	0.411;0.616;0.687	T	0.06534	-1.0821	10	0.54805	T	0.06	.	13.512	0.61517	0.0763:0.0:0.9237:0.0	.	2660;2660;56	O94915;F5GX82;O94915-2	FRYL_HUMAN;.;.	M	2660;2660;2660;56;56	ENSP00000426064:T2660M;ENSP00000351113:T2660M;ENSP00000441114:T2660M	ENSP00000264319:T56M	T	-	2	0	FRYL	48209421	1.000000	0.71417	0.062000	0.19696	0.006000	0.05464	4.349000	0.59385	1.156000	0.42514	-0.459000	0.05422	ACG		0.443	FRYL-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000369265.2			15	24	0	0	0	1	0	15	24					A	48514664	G	A	48514664	3	1	435	1	0	0	0	0	1	0	0	0	6064	1145	40	1	1094	1	FRYL	4	48514664	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	92466	48514664	142639612	2300	23225											
FRYL	285527	broad.mit.edu	37	chr4	48567655	48567655	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgcccagtgactgaacagcaTaaatagactgtgacgaaggc	14	7	11	9	1	0	4	0	3	0	1	0	5	0	4	1	1	3	1	1	1	5	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:48567655T>C	ENST00000503238.1	-	26	3222	c.3223A>G	c.(3223-3225)Atg>Gtg	p.M1075V	FRYL_ENST00000537810.1_Missense_Mutation_p.M1075V|FRYL_ENST00000358350.4_Missense_Mutation_p.M1075V|FRYL_ENST00000264319.7_5'UTR|FRYL_ENST00000507711.1_Missense_Mutation_p.M1075V			O94915	FRYL_HUMAN	FRY-like	1075					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)					breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						CTGAACAGCATAAATAGACTG	0.368																																						ENST00000537810.1																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						c.(3223-3225)Atg>Gtg		FRY-like							106	98	100					4																	48567655		1863	4120	5983	SO:0001583	missense	285527				regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding	g.chr4:48567655T>C	AL833170	CCDS43227.1	4p12	2011-08-03	2006-11-17	2005-11-24	ENSG00000075539	ENSG00000075539			29127	protein-coding gene	gene with protein product			"KIAA0826", "furry homolog-like (Drosophila)"	KIAA0826		10048485	Standard	NM_015030		Approved	DKFZp686E205	uc003gyh.1	O94915	OTTHUMG00000160608	ENST00000503238.1:c.3223A>G	4.37:g.48567655T>C	ENSP00000426064:p.Met1075Val					FRYL_ENST00000507711.1_Missense_Mutation_p.M1075V|FRYL_ENST00000264319.7_5'UTR|FRYL_ENST00000503238.1_Missense_Mutation_p.M1075V|FRYL_ENST00000358350.4_Missense_Mutation_p.M1075V	p.M1075V			O94915	FRYL_HUMAN			29	3827	-			1075					O95640|Q8WTZ5|Q9NT40	Missense_Mutation	SNP	ENST00000503238.1	37	c.3223A>G	CCDS43227.1	.	.	.	.	.	.	.	.	.	.	T	13.06	2.123391	0.37436	.	.	ENSG00000075539	ENST00000503238;ENST00000358350;ENST00000537810;ENST00000507711	T;T;T;T	0.41758	1.98;1.98;1.98;0.99	5.9	5.9	0.94986	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	U	0.000000	T	0.31451	0.0797	N	0.24115	0.695	0.80722	D	1	P;B	0.43826	0.818;0.019	B;B	0.41466	0.358;0.013	T	0.06607	-1.0817	10	0.12766	T	0.61	.	16.3232	0.82961	0.0:0.0:0.0:1.0	.	1075;1075	F2Z2S2;O94915	.;FRYL_HUMAN	V	1075	ENSP00000426064:M1075V;ENSP00000351113:M1075V;ENSP00000441114:M1075V;ENSP00000421584:M1075V	ENSP00000351113:M1075V	M	-	1	0	FRYL	48262412	1.000000	0.71417	0.978000	0.43139	0.983000	0.72400	6.160000	0.71862	2.254000	0.74563	0.482000	0.46254	ATG		0.368	FRYL-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000369265.2			11	43	0	0	0	1	0	11	43					C	48567655	T	C	48567655	3	2	435	1	0	0	0	0	1	0	0	0	6064	1406	49	4	5962	4	FRYL	4	48567655	Missense_Mutation	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	52991	48567655	142586621	2301	23226											
FRYL	285527	broad.mit.edu	37	chr4	48583507	48583507	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tgacggctagtctcctagtgGcaggtcgactgctacagaga	9	9	13	10	2	1	2	0	1	1	1	3	4	1	2	1	3	2	3	1	3	3	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:48583507G>A	ENST00000503238.1	-	18	2101	c.2102C>T	c.(2101-2103)gCc>gTc	p.A701V	FRYL_ENST00000537810.1_Missense_Mutation_p.A701V|FRYL_ENST00000358350.4_Missense_Mutation_p.A701V|FRYL_ENST00000264319.7_5'UTR|FRYL_ENST00000507711.1_Missense_Mutation_p.A701V|FRYL_ENST00000506685.1_Missense_Mutation_p.A407V			O94915	FRYL_HUMAN	FRY-like	701					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)					breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						TCTCCTAGTGGCAGGTCGACT	0.453																																						ENST00000537810.1																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						c.(2101-2103)gCc>gTc		FRY-like							62	59	60					4																	48583507		1890	4118	6008	SO:0001583	missense	285527				regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding	g.chr4:48583507G>A	AL833170	CCDS43227.1	4p12	2011-08-03	2006-11-17	2005-11-24	ENSG00000075539	ENSG00000075539			29127	protein-coding gene	gene with protein product			"KIAA0826", "furry homolog-like (Drosophila)"	KIAA0826		10048485	Standard	NM_015030		Approved	DKFZp686E205	uc003gyh.1	O94915	OTTHUMG00000160608	ENST00000503238.1:c.2102C>T	4.37:g.48583507G>A	ENSP00000426064:p.Ala701Val					FRYL_ENST00000506685.1_Missense_Mutation_p.A407V|FRYL_ENST00000507711.1_Missense_Mutation_p.A701V|FRYL_ENST00000264319.7_5'UTR|FRYL_ENST00000503238.1_Missense_Mutation_p.A701V|FRYL_ENST00000358350.4_Missense_Mutation_p.A701V	p.A701V			O94915	FRYL_HUMAN			21	2706	-			701					O95640|Q8WTZ5|Q9NT40	Missense_Mutation	SNP	ENST00000503238.1	37	c.2102C>T	CCDS43227.1	.	.	.	.	.	.	.	.	.	.	G	15.91	2.972857	0.53614	.	.	ENSG00000075539	ENST00000503238;ENST00000358350;ENST00000537810;ENST00000507711;ENST00000506685	T;T;T;T;T	0.52057	0.68;0.68;0.68;0.68;0.68	5.87	5.87	0.94306	.	0.000000	0.85682	U	0.000000	T	0.44685	0.1305	L	0.46614	1.455	0.80722	D	1	P;B	0.34522	0.455;0.136	B;B	0.31751	0.135;0.046	T	0.21759	-1.0236	10	0.27082	T	0.32	.	20.5827	0.99408	0.0:0.0:1.0:0.0	.	701;701	F2Z2S2;O94915	.;FRYL_HUMAN	V	701;701;701;701;407	ENSP00000426064:A701V;ENSP00000351113:A701V;ENSP00000441114:A701V;ENSP00000421584:A701V;ENSP00000425592:A407V	ENSP00000351113:A701V	A	-	2	0	FRYL	48278264	1.000000	0.71417	1.000000	0.80357	0.774000	0.43823	6.190000	0.72057	2.941000	0.99782	0.655000	0.94253	GCC		0.453	FRYL-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000369265.2			25	37	0	0	0	1	0	25	37					A	48583507	G	A	48583507	3	1	435	1	0	0	0	0	1	0	0	0	6064	1203	42	3	7115	3	FRYL	4	48583507	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	15852	48583507	142570769	2302	23227											
LRRC66	339977	broad.mit.edu	37	chr4	52861265	52861265	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcttcctcagcccttgccccGgacagccttggctgctgtat	4	11	10	16	1	1	0	1	0	0	0	2	1	2	1	5	2	4	4	5	2	1	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:52861265G>A	ENST00000343457.3	-	4	1929	c.1923C>T	c.(1921-1923)tcC>tcT	p.S641S		NM_001024611.1	NP_001019782.1	Q68CR7	LRC66_HUMAN	leucine rich repeat containing 66	641						integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(8)|lung(34)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	58						CCCTTGCCCCGGACAGCCTTG	0.527																																						ENST00000343457.3																			0				central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(8)|lung(34)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	58						c.(1921-1923)tcC>tcT		leucine rich repeat containing 66							70	69	69					4																	52861265		2000	4175	6175	SO:0001819	synonymous_variant	339977					integral to membrane		g.chr4:52861265G>A	BC040414	CCDS43229.1	4q12	2008-08-08			ENSG00000188993	ENSG00000188993			34299	protein-coding gene	gene with protein product							Standard	XM_005265739		Approved		uc003gzi.3	Q68CR7	OTTHUMG00000160623	ENST00000343457.3:c.1923C>T	4.37:g.52861265G>A							p.S641S	NM_001024611.1	NP_001019782.1	Q68CR7	LRC66_HUMAN			4	1929	-			641						Silent	SNP	ENST00000343457.3	37	c.1923C>T	CCDS43229.1																																																																																				0.527	LRRC66-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361473.1	NM_001024611		25	35	0	0	0	1	0	25	35					A	52861265	G	A	52861265	2	1	435	1	0	0	0	0	0	0	0	1	9018	1103	39	2		2	LRRC66	4	52861265	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	4277758	52861265	138293011	2303	23228											
LRRC66	339977	broad.mit.edu	37	chr4	52861456	52861456	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tatttctccggagagggaagGgtctaattcattggaatcat	11	13	11	6	1	4	1	2	0	2	1	5	4	4	3	1	4	0	0	1	4	4	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:52861456G>A	ENST00000343457.3	-	4	1738	c.1732C>T	c.(1732-1734)Cct>Tct	p.P578S		NM_001024611.1	NP_001019782.1	Q68CR7	LRC66_HUMAN	leucine rich repeat containing 66	578						integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(8)|lung(34)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	58						GAGAGGGAAGGGTCTAATTCA	0.502																																						ENST00000343457.3																			0				central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(8)|lung(34)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	58						c.(1732-1734)Cct>Tct		leucine rich repeat containing 66							106	115	112					4																	52861456		2146	4281	6427	SO:0001583	missense	339977					integral to membrane		g.chr4:52861456G>A	BC040414	CCDS43229.1	4q12	2008-08-08			ENSG00000188993	ENSG00000188993			34299	protein-coding gene	gene with protein product							Standard	XM_005265739		Approved		uc003gzi.3	Q68CR7	OTTHUMG00000160623	ENST00000343457.3:c.1732C>T	4.37:g.52861456G>A	ENSP00000341944:p.Pro578Ser						p.P578S	NM_001024611.1	NP_001019782.1	Q68CR7	LRC66_HUMAN			4	1738	-			578						Missense_Mutation	SNP	ENST00000343457.3	37	c.1732C>T	CCDS43229.1	.	.	.	.	.	.	.	.	.	.	G	9.052	0.992322	0.18966	.	.	ENSG00000188993	ENST00000343457	T	0.26067	1.76	4.14	1.15	0.20763	.	0.447153	0.19272	N	0.118370	T	0.17959	0.0431	L	0.32530	0.975	0.09310	N	1	P	0.50943	0.94	P	0.44732	0.459	T	0.09314	-1.0680	10	0.52906	T	0.07	0.0372	4.4474	0.11604	0.2092:0.3638:0.427:0.0	.	578	Q68CR7	LRC66_HUMAN	S	578	ENSP00000341944:P578S	ENSP00000341944:P578S	P	-	1	0	LRRC66	52556213	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.148000	0.16224	0.487000	0.27698	-0.229000	0.12294	CCT		0.502	LRRC66-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361473.1	NM_001024611		35	74	0	0	0	1	0	35	74					A	52861456	G	A	52861456	3	1	435	1	0	0	0	0	1	0	0	0	9018	1232	43	3	914	3	LRRC66	4	52861456	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	191	52861456	138292820	2304	23229											
SPATA18	132671	broad.mit.edu	37	chr4	52926984	52926984	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtggaaacaatcaagtcacGccttttgccttggctggagg	9	11	12	9	1	2	0	2	0	0	0	2	2	2	2	2	4	2	1	2	4	3	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:52926984G>A	ENST00000295213.4	+	3	604	c.230G>A	c.(229-231)cGc>cAc	p.R77H	SPATA18_ENST00000506829.1_Intron|SPATA18_ENST00000419395.2_Missense_Mutation_p.R77H	NM_145263.2	NP_660306.1	Q8TC71	MIEAP_HUMAN	spermatogenesis associated 18	77					cellular response to DNA damage stimulus (GO:0006974)|mitochondrial protein catabolic process (GO:0035694)|mitochondrion degradation by induced vacuole formation (GO:0035695)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrial outer membrane (GO:0005741)				breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41			GBM - Glioblastoma multiforme(4;1.77e-13)|LUSC - Lung squamous cell carcinoma(32;0.00204)			ATCAAGTCACGCCTTTTGCCT	0.468																																						ENST00000295213.4																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						c.(229-231)cGc>cAc		spermatogenesis associated 18							169	139	149					4																	52926984		2203	4300	6503	SO:0001583	missense	132671				mitochondrial protein catabolic process|mitochondrion degradation by induced vacuole formation|response to DNA damage stimulus	mitochondrial outer membrane	protein binding	g.chr4:52926984G>A	BC025396	CCDS3489.1, CCDS75124.1	4q11	2012-01-23	2012-01-23		ENSG00000163071	ENSG00000163071			29579	protein-coding gene	gene with protein product		612814	"spermatogenesis associated 18 homolog (rat)"			21300779	Standard	XR_245253		Approved	FLJ32906	uc003gzl.3	Q8TC71	OTTHUMG00000128698	ENST00000295213.4:c.230G>A	4.37:g.52926984G>A	ENSP00000295213:p.Arg77His					SPATA18_ENST00000506829.1_Intron|SPATA18_ENST00000419395.2_Missense_Mutation_p.R77H	p.R77H	NM_145263.2	NP_660306.1	Q8TC71	MIEAP_HUMAN	GBM - Glioblastoma multiforme(4;1.77e-13)|LUSC - Lung squamous cell carcinoma(32;0.00204)		3	604	+			77					B4E2R0|E5RLK1|Q8IY48|Q8N7D7	Missense_Mutation	SNP	ENST00000295213.4	37	c.230G>A	CCDS3489.1	.	.	.	.	.	.	.	.	.	.	G	16.78	3.217268	0.58560	.	.	ENSG00000163071	ENST00000295213;ENST00000419395	T;T	0.54866	0.55;0.63	4.81	4.81	0.61882	.	0.000000	0.85682	D	0.000000	T	0.71074	0.3297	M	0.76574	2.34	0.52501	D	0.999952	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.997;0.997;0.998	T	0.74234	-0.3731	10	0.87932	D	0	-18.2666	13.5497	0.61726	0.0:0.0:1.0:0.0	.	77;77;77	Q8TC71-2;Q8TC71;Q96M13	.;MIEAP_HUMAN;.	H	77	ENSP00000295213:R77H;ENSP00000415309:R77H	ENSP00000295213:R77H	R	+	2	0	SPATA18	52621741	1.000000	0.71417	0.989000	0.46669	0.219000	0.24729	5.147000	0.64851	2.651000	0.90000	0.462000	0.41574	CGC		0.468	SPATA18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250597.2	NM_145263		20	24	0	0	0	1	0	20	24					A	52926984	G	A	52926984	3	1	435	1	0	0	0	0	1	0	0	0	15002	1087	38	1	240	1	SPATA18	4	52926984	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	65528	52926984	138227292	2305	23230											
FIP1L1	81608	broad.mit.edu	37	chr4	54256787	54256787	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttttgaagataaaccatggcGtaaacctggtaagattattg	14	13	9	5	1	0	3	0	1	0	2	0	3	0	3	2	2	2	2	2	2	7	7			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:54256787G>A	ENST00000337488.6	+	7	691	c.497G>A	c.(496-498)cGt>cAt	p.R166H	FIP1L1_ENST00000306932.6_Missense_Mutation_p.R151H|FIP1L1_ENST00000507166.1_Missense_Mutation_p.R166H|FIP1L1_ENST00000358575.5_Missense_Mutation_p.R151H|FIP1L1_ENST00000507922.1_Missense_Mutation_p.R151H	NM_030917.3	NP_112179.2	Q6UN15	FIP1_HUMAN	factor interacting with PAPOLA and CPSF1	166	Necessary for stimulating PAPOLA activity.|Sufficient for interaction with CPSF4.				mRNA processing (GO:0006397)	mRNA cleavage and polyadenylation specificity factor complex (GO:0005847)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			large_intestine(3)|liver(1)|ovary(1)|skin(1)	6			GBM - Glioblastoma multiforme(3;3.31e-36)|LUSC - Lung squamous cell carcinoma(32;0.0134)			AAACCATGGCGTAAACCTGGT	0.318			T	PDGFRA	idiopathic hypereosinophilic syndrome																																	ENST00000507166.1				Dom	yes		4	4q12	81608	T	FIP1 like 1 (S. cerevisiae)			L	PDGFRA		idiopathic hypereosinophilic syndrome		0				large_intestine(3)|liver(1)|ovary(1)|skin(1)	6						c.(496-498)cGt>cAt		factor interacting with PAPOLA and CPSF1							88	88	88					4																	54256787		2203	4300	6503	SO:0001583	missense	81608				mRNA processing	nucleus	RNA binding	g.chr4:54256787G>A	AF161429	CCDS3491.1, CCDS47055.1, CCDS47056.1	4q12	2013-06-18	2013-06-18		ENSG00000145216	ENSG00000145216			19124	protein-coding gene	gene with protein product		607686	"FIP1 like 1 (S. cerevisiae)", "FIP1L1 cleavage and polyadenylation specific factor subunit"			11230166, 14749727	Standard	NM_030917		Approved	DKFZp586K0717, FIP1	uc003hae.3	Q6UN15	OTTHUMG00000128701	ENST00000337488.6:c.497G>A	4.37:g.54256787G>A	ENSP00000336752:p.Arg166His					FIP1L1_ENST00000507922.1_Missense_Mutation_p.R151H|FIP1L1_ENST00000358575.5_Missense_Mutation_p.R151H|FIP1L1_ENST00000337488.6_Missense_Mutation_p.R166H|FIP1L1_ENST00000306932.6_Missense_Mutation_p.R151H	p.R166H			Q6UN15	FIP1_HUMAN	GBM - Glioblastoma multiforme(3;3.31e-36)|LUSC - Lung squamous cell carcinoma(32;0.0134)		7	497	+			166			Necessary for stimulating PAPOLA activity.|Sufficient for interaction with CPSF4.		B4DIR3|G3XAD6|Q0VGE0|Q499Y4|Q49AU3|Q7Z608|Q8WVN3|Q96F80|Q9H077	Missense_Mutation	SNP	ENST00000337488.6	37	c.497G>A	CCDS3491.1	.	.	.	.	.	.	.	.	.	.	G	25.3	4.627729	0.87560	.	.	ENSG00000145216	ENST00000337488;ENST00000358575;ENST00000507922;ENST00000306932;ENST00000507166	D	0.85773	-2.03	5.43	5.43	0.79202	Pre-mRNA polyadenylation factor Fip1 (1);	0.000000	0.64402	D	0.000003	D	0.94693	0.8288	M	0.94021	3.485	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;1.0;1.0	D;D;D;D	0.97110	0.999;0.989;1.0;0.999	D	0.95724	0.8769	9	.	.	.	-11.8379	19.2217	0.93799	0.0:0.0:1.0:0.0	.	151;151;166;151	G3XAD6;Q6UN15-3;Q6UN15;Q6UN15-4	.;.;FIP1_HUMAN;.	H	166;151;151;151;166	ENSP00000423325:R166H	.	R	+	2	0	FIP1L1	53951544	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	9.429000	0.97481	2.534000	0.85438	0.591000	0.81541	CGT		0.318	FIP1L1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000250602.1	NM_030917		18	30	0	0	0	1	0	18	30					A	54256787	G	A	54256787	3	1	435	1	0	0	0	0	1	0	0	0	5896	1145	40	1	523	1	FIP1L1	4	54256787	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	1329803	54256787	136897489	2306	23231											
CHIC2	26511	broad.mit.edu	37	chr4	54915146	54915146	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ttactgaggcaaataactggCcacatactgcaacctaatgt	14	10	7	10	0	0	1	0	1	0	0	0	1	0	1	2	2	5	2	2	2	6	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:54915146C>T	ENST00000263921.3	-	3	695	c.306G>A	c.(304-306)tgG>tgA	p.W102*	FIP1L1_ENST00000507166.1_Intron|CHIC2_ENST00000512964.1_Nonsense_Mutation_p.W102*	NM_012110.3	NP_036242.1	Q9UKJ5	CHIC2_HUMAN	cysteine-rich hydrophobic domain 2	102						Golgi-associated vesicle (GO:0005798)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|large_intestine(1)|lung(1)	4	all_cancers(7;0.0193)|all_neural(26;0.0209)|Lung NSC(11;0.0281)|Glioma(25;0.08)		LUSC - Lung squamous cell carcinoma(32;0.00216)			AAATAACTGGCCACATACTGC	0.343			T	ETV6	AML																																	ENST00000263921.3				Dom	yes		4	4q11-q12	26511	T	cysteine-rich hydrophobic domain 2			L	ETV6		AML		0				breast(1)|central_nervous_system(1)|large_intestine(1)|lung(1)	4						c.(304-306)tgG>tgA		cysteine-rich hydrophobic domain 2							27	23	25					4																	54915146		2198	4294	6492	SO:0001587	stop_gained	26511					plasma membrane	protein binding	g.chr4:54915146C>T	AF159423	CCDS3493.1	4q12	2013-09-04			ENSG00000109220	ENSG00000109220			1935	protein-coding gene	gene with protein product		604332				10477709	Standard	NM_012110		Approved	BTL	uc003haj.2	Q9UKJ5	OTTHUMG00000102101	ENST00000263921.3:c.306G>A	4.37:g.54915146C>T	ENSP00000263921:p.Trp102*					CHIC2_ENST00000512964.1_Nonsense_Mutation_p.W102*|FIP1L1_ENST00000507166.1_Intron	p.W102*	NM_012110.3	NP_036242.1	Q9UKJ5	CHIC2_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00216)		3	695	-	all_cancers(7;0.0193)|all_neural(26;0.0209)|Lung NSC(11;0.0281)|Glioma(25;0.08)		102					B2R639	Nonsense_Mutation	SNP	ENST00000263921.3	37	c.306G>A	CCDS3493.1	.	.	.	.	.	.	.	.	.	.	C	38	6.786289	0.97837	.	.	ENSG00000109220	ENST00000263921;ENST00000512964	.	.	.	5.81	5.81	0.92471	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-23.8143	20.0695	0.97716	0.0:1.0:0.0:0.0	.	.	.	.	X	102	.	ENSP00000263921:W102X	W	-	3	0	CHIC2	54609903	1.000000	0.71417	1.000000	0.80357	0.844000	0.47949	7.380000	0.79704	2.761000	0.94854	0.585000	0.79938	TGG		0.343	CHIC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219937.2			9	8	0	0	0	1	0	9	8					T	54915146	C	T	54915146	4	4	435	1	0	0	0	0	0	1	0	0	3344	740	26	3	207	3	CHIC2	4	54915146	Nonsense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	658359	54915146	136239130	2307	23232											
KIT	3815	broad.mit.edu	37	chr4	55602953	55602953	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gatgatcaaggaaggcttccGgatgctcagccctgaacacg	11	7	12	11	2	2	2	2	2	0	0	3	5	3	4	2	3	3	2	2	3	3	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:55602953G>A	ENST00000288135.5	+	19	2760	c.2663G>A	c.(2662-2664)cGg>cAg	p.R888Q		NM_000222.2|NM_001093772.1	NP_000213.1|NP_001087241.1	P10721	KIT_HUMAN	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	888	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				actin cytoskeleton reorganization (GO:0031532)|activation of MAPK activity (GO:0000187)|cell chemotaxis (GO:0060326)|cellular response to thyroid hormone stimulus (GO:0097067)|cytokine-mediated signaling pathway (GO:0019221)|dendritic cell cytokine production (GO:0002371)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|digestive tract development (GO:0048565)|ectopic germ cell programmed cell death (GO:0035234)|embryonic hemopoiesis (GO:0035162)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell proliferation (GO:0050673)|erythrocyte differentiation (GO:0030218)|erythropoietin-mediated signaling pathway (GO:0038162)|Fc receptor signaling pathway (GO:0038093)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|germ cell migration (GO:0008354)|glycosphingolipid metabolic process (GO:0006687)|hemopoiesis (GO:0030097)|immature B cell differentiation (GO:0002327)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|Kit signaling pathway (GO:0038109)|lamellipodium assembly (GO:0030032)|lymphoid progenitor cell differentiation (GO:0002320)|male gonad development (GO:0008584)|mast cell chemotaxis (GO:0002551)|mast cell cytokine production (GO:0032762)|mast cell degranulation (GO:0043303)|mast cell differentiation (GO:0060374)|mast cell proliferation (GO:0070662)|megakaryocyte development (GO:0035855)|melanocyte adhesion (GO:0097326)|melanocyte differentiation (GO:0030318)|melanocyte migration (GO:0097324)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of programmed cell death (GO:0043069)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ovarian follicle development (GO:0001541)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|pigmentation (GO:0043473)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of pseudopodium assembly (GO:0031274)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|regulation of cell proliferation (GO:0042127)|regulation of cell shape (GO:0008360)|regulation of developmental pigmentation (GO:0048070)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|somatic stem cell division (GO:0048103)|somatic stem cell maintenance (GO:0035019)|spermatid development (GO:0007286)|spermatogenesis (GO:0007283)|stem cell differentiation (GO:0048863)|stem cell maintenance (GO:0019827)|T cell differentiation (GO:0030217)|visual learning (GO:0008542)	acrosomal vesicle (GO:0001669)|cell-cell junction (GO:0005911)|cytoplasmic side of plasma membrane (GO:0009898)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|mast cell granule (GO:0042629)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cytokine binding (GO:0019955)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|stem cell factor receptor activity (GO:0005020)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			NS(8)|autonomic_ganglia(1)|bone(21)|breast(2)|central_nervous_system(4)|endometrium(10)|eye(12)|genital_tract(18)|haematopoietic_and_lymphoid_tissue(1820)|kidney(17)|large_intestine(17)|lung(27)|ovary(23)|pancreas(4)|prostate(1)|salivary_gland(15)|skin(228)|soft_tissue(4117)|stomach(3)|testis(55)|thymus(7)|upper_aerodigestive_tract(1)	6411	all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209)	Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171)	Dasatinib(DB01254)|Imatinib(DB00619)|Nilotinib(DB04868)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	GAAGGCTTCCGGATGCTCAGC	0.428		1	"Mis, O"		"GIST, AML, TGCT, mastocytosis, mucosal melanoma"	"GIST, epithelioma"	Piebald trait		Piebaldism;Mast Cell disease, Familial Clustering of;Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Gastrointestinal Stromal Tumors																													ENST00000288135.5		1	yes	Dom	yes	Familial gastrointestinal stromal tumour	4	4q12	3815	"Mis, O"	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	yes	Piebald trait	"L, M, O, E"		"GIST, epithelioma"	"GIST, AML, TGCT, mastocytosis, mucosal melanoma"		0				NS(8)|autonomic_ganglia(1)|bone(21)|breast(2)|central_nervous_system(4)|endometrium(10)|eye(12)|genital_tract(18)|haematopoietic_and_lymphoid_tissue(1820)|kidney(17)|large_intestine(17)|lung(27)|ovary(23)|pancreas(4)|prostate(1)|salivary_gland(15)|skin(228)|soft_tissue(4117)|stomach(3)|testis(55)|thymus(7)|upper_aerodigestive_tract(1)	6411						c.(2662-2664)cGg>cAg		v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)						84	81	82					4																	55602953		2203	4300	6503	SO:0001583	missense	3815	Piebaldism;Mast Cell disease, Familial Clustering of;Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Gastrointestinal Stromal Tumors	Familial Cancer Database	Piebald trait;incl.: Familial Cutaneous Mastocytosis (Urticaria Pigmentosum);Sporadic Multiple GIST;Familial GIST, incl. Multiple Familial Gastrointestinal Autonomic Nerve Tumors (GANT)	male gonad development|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular space|integral to membrane	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity	g.chr4:55602953G>A	S67773	CCDS3496.1, CCDS47058.1	4q12	2014-09-17			ENSG00000157404	ENSG00000157404		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6342	protein-coding gene	gene with protein product		164920	"piebald trait"	PBT		9027509	Standard	NM_001093772		Approved	CD117, SCFR, C-Kit	uc010igr.3	P10721	OTTHUMG00000128713	ENST00000288135.5:c.2663G>A	4.37:g.55602953G>A	ENSP00000288135:p.Arg888Gln						p.R888Q	NM_000222.2|NM_001093772.1	NP_000213.1|NP_001087241.1	P10721	KIT_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209)	Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171)	19	2760	+	all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101)		888			Protein kinase.		B5A956|D5LXN2|D5M931|F5H8F8|Q6IQ28|Q99662|Q9UM99	Missense_Mutation	SNP	ENST00000288135.5	37	c.2663G>A	CCDS3496.1	.	.	.	.	.	.	.	.	.	.	G	19.63	3.863934	0.71949	.	.	ENSG00000157404	ENST00000288135;ENST00000412167	D;D	0.84589	-1.87;-1.87	5.59	5.59	0.84812	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.49916	D	0.000134	D	0.92260	0.7545	M	0.76938	2.355	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.997;0.999	D	0.89778	0.3959	10	0.25106	T	0.35	.	19.6056	0.95580	0.0:0.0:1.0:0.0	.	884;888	P10721-2;P10721	.;KIT_HUMAN	Q	888;884	ENSP00000288135:R888Q;ENSP00000390987:R884Q	ENSP00000288135:R888Q	R	+	2	0	KIT	55297710	1.000000	0.71417	0.980000	0.43619	0.527000	0.34593	7.763000	0.85283	2.625000	0.88918	0.655000	0.94253	CGG		0.428	KIT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250618.1			16	49	0	0	0	1	0	16	49					A	55602953	G	A	55602953	3	1	435	1	0	0	0	0	1	0	0	0	8329	1116	39	2	2737	2	KIT	4	55602953	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	687807	55602953	135551323	2308	23233											
KIT	3815	broad.mit.edu	37	chr4	55604673	55604673	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgtgcggatcaattctgtcGgcagcaccgcttcctcctcc	5	11	9	16	3	2	0	1	0	1	0	6	1	5	1	4	2	2	3	4	2	1	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:55604673G>A	ENST00000288135.5	+	21	2978	c.2881G>A	c.(2881-2883)Ggc>Agc	p.G961S		NM_000222.2|NM_001093772.1	NP_000213.1|NP_001087241.1	P10721	KIT_HUMAN	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	961					actin cytoskeleton reorganization (GO:0031532)|activation of MAPK activity (GO:0000187)|cell chemotaxis (GO:0060326)|cellular response to thyroid hormone stimulus (GO:0097067)|cytokine-mediated signaling pathway (GO:0019221)|dendritic cell cytokine production (GO:0002371)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|digestive tract development (GO:0048565)|ectopic germ cell programmed cell death (GO:0035234)|embryonic hemopoiesis (GO:0035162)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell proliferation (GO:0050673)|erythrocyte differentiation (GO:0030218)|erythropoietin-mediated signaling pathway (GO:0038162)|Fc receptor signaling pathway (GO:0038093)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|germ cell migration (GO:0008354)|glycosphingolipid metabolic process (GO:0006687)|hemopoiesis (GO:0030097)|immature B cell differentiation (GO:0002327)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|Kit signaling pathway (GO:0038109)|lamellipodium assembly (GO:0030032)|lymphoid progenitor cell differentiation (GO:0002320)|male gonad development (GO:0008584)|mast cell chemotaxis (GO:0002551)|mast cell cytokine production (GO:0032762)|mast cell degranulation (GO:0043303)|mast cell differentiation (GO:0060374)|mast cell proliferation (GO:0070662)|megakaryocyte development (GO:0035855)|melanocyte adhesion (GO:0097326)|melanocyte differentiation (GO:0030318)|melanocyte migration (GO:0097324)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of programmed cell death (GO:0043069)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ovarian follicle development (GO:0001541)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|pigmentation (GO:0043473)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of pseudopodium assembly (GO:0031274)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|regulation of cell proliferation (GO:0042127)|regulation of cell shape (GO:0008360)|regulation of developmental pigmentation (GO:0048070)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|somatic stem cell division (GO:0048103)|somatic stem cell maintenance (GO:0035019)|spermatid development (GO:0007286)|spermatogenesis (GO:0007283)|stem cell differentiation (GO:0048863)|stem cell maintenance (GO:0019827)|T cell differentiation (GO:0030217)|visual learning (GO:0008542)	acrosomal vesicle (GO:0001669)|cell-cell junction (GO:0005911)|cytoplasmic side of plasma membrane (GO:0009898)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|mast cell granule (GO:0042629)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cytokine binding (GO:0019955)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|stem cell factor receptor activity (GO:0005020)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.G961S(1)		NS(8)|autonomic_ganglia(1)|bone(21)|breast(2)|central_nervous_system(4)|endometrium(10)|eye(12)|genital_tract(18)|haematopoietic_and_lymphoid_tissue(1820)|kidney(17)|large_intestine(17)|lung(27)|ovary(23)|pancreas(4)|prostate(1)|salivary_gland(15)|skin(228)|soft_tissue(4117)|stomach(3)|testis(55)|thymus(7)|upper_aerodigestive_tract(1)	6411	all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209)	Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171)	Dasatinib(DB01254)|Imatinib(DB00619)|Nilotinib(DB04868)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	CAATTCTGTCGGCAGCACCGC	0.527		1	"Mis, O"		"GIST, AML, TGCT, mastocytosis, mucosal melanoma"	"GIST, epithelioma"	Piebald trait		Piebaldism;Mast Cell disease, Familial Clustering of;Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Gastrointestinal Stromal Tumors																													ENST00000288135.5		1	yes	Dom	yes	Familial gastrointestinal stromal tumour	4	4q12	3815	"Mis, O"	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	yes	Piebald trait	"L, M, O, E"		"GIST, epithelioma"	"GIST, AML, TGCT, mastocytosis, mucosal melanoma"		1	Substitution - Missense(1)	p.G961S(1)	ovary(1)	NS(8)|autonomic_ganglia(1)|bone(21)|breast(2)|central_nervous_system(4)|endometrium(10)|eye(12)|genital_tract(18)|haematopoietic_and_lymphoid_tissue(1820)|kidney(17)|large_intestine(17)|lung(27)|ovary(23)|pancreas(4)|prostate(1)|salivary_gland(15)|skin(228)|soft_tissue(4117)|stomach(3)|testis(55)|thymus(7)|upper_aerodigestive_tract(1)	6411						c.(2881-2883)Ggc>Agc		v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)						127	123	124					4																	55604673		2203	4300	6503	SO:0001583	missense	3815	Piebaldism;Mast Cell disease, Familial Clustering of;Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Gastrointestinal Stromal Tumors	Familial Cancer Database	Piebald trait;incl.: Familial Cutaneous Mastocytosis (Urticaria Pigmentosum);Sporadic Multiple GIST;Familial GIST, incl. Multiple Familial Gastrointestinal Autonomic Nerve Tumors (GANT)	male gonad development|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular space|integral to membrane	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity	g.chr4:55604673G>A	S67773	CCDS3496.1, CCDS47058.1	4q12	2014-09-17			ENSG00000157404	ENSG00000157404		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6342	protein-coding gene	gene with protein product		164920	"piebald trait"	PBT		9027509	Standard	NM_001093772		Approved	CD117, SCFR, C-Kit	uc010igr.3	P10721	OTTHUMG00000128713	ENST00000288135.5:c.2881G>A	4.37:g.55604673G>A	ENSP00000288135:p.Gly961Ser						p.G961S	NM_000222.2|NM_001093772.1	NP_000213.1|NP_001087241.1	P10721	KIT_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209)	Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171)	21	2978	+	all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101)		961					B5A956|D5LXN2|D5M931|F5H8F8|Q6IQ28|Q99662|Q9UM99	Missense_Mutation	SNP	ENST00000288135.5	37	c.2881G>A	CCDS3496.1	.	.	.	.	.	.	.	.	.	.	G	19.48	3.834834	0.71373	.	.	ENSG00000157404	ENST00000288135;ENST00000412167	T;T	0.76578	-1.03;-1.03	5.72	5.72	0.89469	.	0.000000	0.64402	D	0.000009	D	0.87237	0.6127	M	0.72894	2.215	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.97110	0.944;1.0	D	0.85232	0.1033	10	0.34782	T	0.22	.	17.6745	0.88226	0.0:0.0:1.0:0.0	.	957;961	P10721-2;P10721	.;KIT_HUMAN	S	961;957	ENSP00000288135:G961S;ENSP00000390987:G957S	ENSP00000288135:G961S	G	+	1	0	KIT	55299430	1.000000	0.71417	0.964000	0.40570	0.261000	0.26267	5.963000	0.70372	2.706000	0.92434	0.561000	0.74099	GGC		0.527	KIT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250618.1			50	71	0	0	0	1	0	50	71					A	55604673	G	A	55604673	3	1	435	1	0	0	0	0	1	0	0	0	8329	1116	39	2	2963	2	KIT	4	55604673	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	1720	55604673	135549603	2309	23234											
KDR	3791	broad.mit.edu	37	chr4	55955037	55955037	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tggatggaggtgacaaacctGctgagcattagcttgcaaga	12	9	13	7	0	0	3	0	2	0	1	0	5	0	5	1	3	5	4	1	3	3	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:55955037G>A	ENST00000263923.4	-	26	3803	c.3508C>T	c.(3508-3510)Cag>Tag	p.Q1170*	RP11-530I17.1_ENST00000511222.1_RNA	NM_002253.2	NP_002244.1	P35968	VGFR2_HUMAN	kinase insert domain receptor (a type III receptor tyrosine kinase)	1170					angiogenesis (GO:0001525)|branching morphogenesis of an epithelial tube (GO:0048754)|calcium ion homeostasis (GO:0055074)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|cell fate commitment (GO:0045165)|cell maturation (GO:0048469)|cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|embryonic hemopoiesis (GO:0035162)|endothelial cell differentiation (GO:0045446)|endothelium development (GO:0003158)|extracellular matrix organization (GO:0030198)|lung alveolus development (GO:0048286)|lymph vessel development (GO:0001945)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|ovarian follicle development (GO:0001541)|peptidyl-tyrosine autophosphorylation (GO:0038083)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of vasculogenesis (GO:2001214)|protein autophosphorylation (GO:0046777)|regulation of cell shape (GO:0008360)|signal transduction by phosphorylation (GO:0023014)|surfactant homeostasis (GO:0043129)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor signaling pathway (GO:0038084)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sorting endosome (GO:0097443)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|Hsp90 protein binding (GO:0051879)|integrin binding (GO:0005178)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor binding (GO:0038085)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Axitinib(DB06626)|Cabozantinib(DB08875)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	TGACAAACCTGCTGAGCATTA	0.507			Mis		"NSCLC, angiosarcoma"					TSP Lung(20;0.16)																												ENST00000263923.4				Dom	yes		4	4q11-q12	3791	Mis	vascular endothelial growth factor receptor 2			E			"NSCLC, angiosarcoma"		0				NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135						c.(3508-3510)Cag>Tag		kinase insert domain receptor (a type III receptor tyrosine kinase)	Sorafenib(DB00398)|Sunitinib(DB01268)						112	103	106					4																	55955037		2203	4300	6503	SO:0001587	stop_gained	3791				angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape	integral to plasma membrane	ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity	g.chr4:55955037G>A	AF035121	CCDS3497.1	4q11-q12	2013-01-29			ENSG00000128052	ENSG00000128052	2.7.10.1	"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6307	protein-coding gene	gene with protein product		191306				1417831	Standard	NM_002253		Approved	FLK1, VEGFR, VEGFR2, CD309	uc003has.3	P35968	OTTHUMG00000128734	ENST00000263923.4:c.3508C>T	4.37:g.55955037G>A	ENSP00000263923:p.Gln1170*	TSP Lung(20;0.16)				RP11-530I17.1_ENST00000511222.1_RNA	p.Q1170*	NM_002253.2	NP_002244.1	P35968	VGFR2_HUMAN	Epithelial(7;0.189)		26	3803	-	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		1170					A2RRS0|B5A925|C5IFA0|O60723|Q14178	Nonsense_Mutation	SNP	ENST00000263923.4	37	c.3508C>T	CCDS3497.1	.	.	.	.	.	.	.	.	.	.	G	43	9.979997	0.99309	.	.	ENSG00000128052	ENST00000263923	.	.	.	5.43	5.43	0.79202	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.48119	T	0.1	.	19.5878	0.95496	0.0:0.0:1.0:0.0	.	.	.	.	X	1170	.	ENSP00000263923:Q1170X	Q	-	1	0	KDR	55649794	1.000000	0.71417	1.000000	0.80357	0.344000	0.29017	9.434000	0.97515	2.711000	0.92665	0.467000	0.42956	CAG		0.507	KDR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250645.1			6	20	0	0	0	1	0	6	20					A	55955037	G	A	55955037	4	1	435	1	0	0	0	0	0	1	0	0	8139	1328	46	3	582	3	KDR	4	55955037	Nonsense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	350364	55955037	135199239	2310	23235											
KDR	3791	broad.mit.edu	37	chr4	55964923	55964923	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gaagaacatggcaatcaccgCcgtgcctactagaataatga	15	7	9	10	2	1	3	1	1	0	2	1	4	1	3	3	1	3	1	3	1	7	3	rs1062832		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:55964923C>T	ENST00000263923.4	-	16	2609	c.2314G>A	c.(2314-2316)Gcg>Acg	p.A772T		NM_002253.2	NP_002244.1	P35968	VGFR2_HUMAN	kinase insert domain receptor (a type III receptor tyrosine kinase)	772				A -> T (in Ref. 7; AAA59459/CAA43837). {ECO:0000305}.	angiogenesis (GO:0001525)|branching morphogenesis of an epithelial tube (GO:0048754)|calcium ion homeostasis (GO:0055074)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|cell fate commitment (GO:0045165)|cell maturation (GO:0048469)|cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|embryonic hemopoiesis (GO:0035162)|endothelial cell differentiation (GO:0045446)|endothelium development (GO:0003158)|extracellular matrix organization (GO:0030198)|lung alveolus development (GO:0048286)|lymph vessel development (GO:0001945)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|ovarian follicle development (GO:0001541)|peptidyl-tyrosine autophosphorylation (GO:0038083)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of vasculogenesis (GO:2001214)|protein autophosphorylation (GO:0046777)|regulation of cell shape (GO:0008360)|signal transduction by phosphorylation (GO:0023014)|surfactant homeostasis (GO:0043129)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor signaling pathway (GO:0038084)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sorting endosome (GO:0097443)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|Hsp90 protein binding (GO:0051879)|integrin binding (GO:0005178)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor binding (GO:0038085)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Axitinib(DB06626)|Cabozantinib(DB08875)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	GCAATCACCGCCGTGCCTACT	0.413			Mis		"NSCLC, angiosarcoma"					TSP Lung(20;0.16)																												ENST00000263923.4				Dom	yes		4	4q11-q12	3791	Mis	vascular endothelial growth factor receptor 2			E			"NSCLC, angiosarcoma"		0				NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135						c.(2314-2316)Gcg>Acg		kinase insert domain receptor (a type III receptor tyrosine kinase)	Sorafenib(DB00398)|Sunitinib(DB01268)						112	113	113					4																	55964923		2203	4300	6503	SO:0001583	missense	3791				angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape	integral to plasma membrane	ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity	g.chr4:55964923C>T	AF035121	CCDS3497.1	4q11-q12	2013-01-29			ENSG00000128052	ENSG00000128052	2.7.10.1	"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6307	protein-coding gene	gene with protein product		191306				1417831	Standard	NM_002253		Approved	FLK1, VEGFR, VEGFR2, CD309	uc003has.3	P35968	OTTHUMG00000128734	ENST00000263923.4:c.2314G>A	4.37:g.55964923C>T	ENSP00000263923:p.Ala772Thr	TSP Lung(20;0.16)					p.A772T	NM_002253.2	NP_002244.1	P35968	VGFR2_HUMAN	Epithelial(7;0.189)		16	2609	-	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		772	A -> T (in Ref. 4; AAA59459/CAA43837).				A2RRS0|B5A925|C5IFA0|O60723|Q14178	Missense_Mutation	SNP	ENST00000263923.4	37	c.2314G>A	CCDS3497.1	.	.	.	.	.	.	.	.	.	.	C	18.03	3.533097	0.64972	.	.	ENSG00000128052	ENST00000263923	T	0.78595	-1.19	5.97	5.97	0.96955	.	0.116782	0.64402	D	0.000018	T	0.76040	0.3932	L	0.29908	0.895	0.54753	D	0.999981	D	0.59357	0.985	P	0.48654	0.585	T	0.75510	-0.3292	10	0.42905	T	0.14	.	20.4062	0.99009	0.0:1.0:0.0:0.0	rs1062832;rs3203821;rs1062832	772	P35968	VGFR2_HUMAN	T	772	ENSP00000263923:A772T	ENSP00000263923:A772T	A	-	1	0	KDR	55659680	1.000000	0.71417	0.235000	0.24058	0.045000	0.14185	7.776000	0.85560	2.831000	0.97527	0.655000	0.94253	GCG		0.413	KDR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250645.1			25	46	0	0	0	1	0	25	46					T	55964923	C	T	55964923	3	4	435	1	0	0	0	0	1	0	0	0	8139	739	26	3	1816	3	KDR	4	55964923	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	9886	55964923	135189353	2311	23236											
KDR	3791	broad.mit.edu	37	chr4	55979611	55979612	+	Frame_Shift_Ins	INS	-	-	T																															catctcactcccagactgggINStttttaggtctcggtttaca																								rs532356730		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:55979611_55979612insT	ENST00000263923.4	-	7	1130_1131	c.835_836insA	c.(835-837)accfs	p.T279fs		NM_002253.2	NP_002244.1	P35968	VGFR2_HUMAN	kinase insert domain receptor (a type III receptor tyrosine kinase)	279	Ig-like C2-type 3.				angiogenesis (GO:0001525)|branching morphogenesis of an epithelial tube (GO:0048754)|calcium ion homeostasis (GO:0055074)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|cell fate commitment (GO:0045165)|cell maturation (GO:0048469)|cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|embryonic hemopoiesis (GO:0035162)|endothelial cell differentiation (GO:0045446)|endothelium development (GO:0003158)|extracellular matrix organization (GO:0030198)|lung alveolus development (GO:0048286)|lymph vessel development (GO:0001945)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|ovarian follicle development (GO:0001541)|peptidyl-tyrosine autophosphorylation (GO:0038083)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of vasculogenesis (GO:2001214)|protein autophosphorylation (GO:0046777)|regulation of cell shape (GO:0008360)|signal transduction by phosphorylation (GO:0023014)|surfactant homeostasis (GO:0043129)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor signaling pathway (GO:0038084)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sorting endosome (GO:0097443)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|Hsp90 protein binding (GO:0051879)|integrin binding (GO:0005178)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor binding (GO:0038085)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Axitinib(DB06626)|Cabozantinib(DB08875)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	CCCAGACTGGGTTTTTAGGTCT	0.416			Mis		"NSCLC, angiosarcoma"					TSP Lung(20;0.16)																												ENST00000263923.4				Dom	yes		4	4q11-q12	3791	Mis	vascular endothelial growth factor receptor 2			E			"NSCLC, angiosarcoma"		0				NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135						c.(835-837)ccafs		kinase insert domain receptor (a type III receptor tyrosine kinase)	Sorafenib(DB00398)|Sunitinib(DB01268)																																			SO:0001589	frameshift_variant	3791				angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape	integral to plasma membrane	ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity	g.chr4:55979611_55979612insT	AF035121	CCDS3497.1	4q11-q12	2013-01-29			ENSG00000128052	ENSG00000128052	2.7.10.1	"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6307	protein-coding gene	gene with protein product		191306				1417831	Standard	NM_002253		Approved	FLK1, VEGFR, VEGFR2, CD309	uc003has.3	P35968	OTTHUMG00000128734	ENST00000263923.4:c.836dupA	4.37:g.55979616_55979616dupT	ENSP00000263923:p.Thr279fs	TSP Lung(20;0.16)					p.P279fs	NM_002253.2	NP_002244.1	P35968	VGFR2_HUMAN	Epithelial(7;0.189)		7	1130_1131	-	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		279			Ig-like C2-type 3.		A2RRS0|B5A925|C5IFA0|O60723|Q14178	Frame_Shift_Ins	INS	ENST00000263923.4	37	c.835_836insA	CCDS3497.1																																																																																				0.416	KDR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250645.1			20	45						20	45	---	---	---	---	T	55979612	-	T	55979611	7	5	435	1	0	1	1	0	0	0	0	0	8139	1261	44	0	3330	0	KDR	4	55979611	Frame_Shift_Ins	INS	-	TCGA-XK-AAIW-01A-11D-A41K-08	14688	55979611	135174665	2312	23237											
KDR	3791	broad.mit.edu	37	chr4	55987346	55987346	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cctgggcagatcaagagaaaCactaggcaaacctagaaaca	18	4	9	10	0	1	3	1	0	0	3	1	4	1	3	2	2	3	2	2	2	6	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:55987346C>T	ENST00000263923.4	-	2	374	c.79G>A	c.(79-81)Gtt>Att	p.V27I		NM_002253.2	NP_002244.1	P35968	VGFR2_HUMAN	kinase insert domain receptor (a type III receptor tyrosine kinase)	27					angiogenesis (GO:0001525)|branching morphogenesis of an epithelial tube (GO:0048754)|calcium ion homeostasis (GO:0055074)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|cell fate commitment (GO:0045165)|cell maturation (GO:0048469)|cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|embryonic hemopoiesis (GO:0035162)|endothelial cell differentiation (GO:0045446)|endothelium development (GO:0003158)|extracellular matrix organization (GO:0030198)|lung alveolus development (GO:0048286)|lymph vessel development (GO:0001945)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|ovarian follicle development (GO:0001541)|peptidyl-tyrosine autophosphorylation (GO:0038083)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of vasculogenesis (GO:2001214)|protein autophosphorylation (GO:0046777)|regulation of cell shape (GO:0008360)|signal transduction by phosphorylation (GO:0023014)|surfactant homeostasis (GO:0043129)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor signaling pathway (GO:0038084)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sorting endosome (GO:0097443)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|Hsp90 protein binding (GO:0051879)|integrin binding (GO:0005178)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor binding (GO:0038085)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Axitinib(DB06626)|Cabozantinib(DB08875)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	TCAAGAGAAACACTAGGCAAA	0.348			Mis		"NSCLC, angiosarcoma"					TSP Lung(20;0.16)																												ENST00000263923.4				Dom	yes		4	4q11-q12	3791	Mis	vascular endothelial growth factor receptor 2			E			"NSCLC, angiosarcoma"		0				NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135						c.(79-81)Gtt>Att		kinase insert domain receptor (a type III receptor tyrosine kinase)	Sorafenib(DB00398)|Sunitinib(DB01268)						110	114	113					4																	55987346		2203	4300	6503	SO:0001583	missense	3791				angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape	integral to plasma membrane	ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity	g.chr4:55987346C>T	AF035121	CCDS3497.1	4q11-q12	2013-01-29			ENSG00000128052	ENSG00000128052	2.7.10.1	"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6307	protein-coding gene	gene with protein product		191306				1417831	Standard	NM_002253		Approved	FLK1, VEGFR, VEGFR2, CD309	uc003has.3	P35968	OTTHUMG00000128734	ENST00000263923.4:c.79G>A	4.37:g.55987346C>T	ENSP00000263923:p.Val27Ile	TSP Lung(20;0.16)					p.V27I	NM_002253.2	NP_002244.1	P35968	VGFR2_HUMAN	Epithelial(7;0.189)		2	374	-	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		27					A2RRS0|B5A925|C5IFA0|O60723|Q14178	Missense_Mutation	SNP	ENST00000263923.4	37	c.79G>A	CCDS3497.1	.	.	.	.	.	.	.	.	.	.	C	3.848	-0.032380	0.07543	.	.	ENSG00000128052	ENST00000263923	T	0.25579	1.79	5.83	2.09	0.27110	.	0.548927	0.20021	N	0.100920	T	0.12817	0.0311	N	0.16478	0.41	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.08055	0.003;0.001	T	0.28808	-1.0032	10	0.22706	T	0.39	.	6.4066	0.21668	0.0:0.5627:0.2804:0.1569	.	27;27	P35968-2;P35968	.;VGFR2_HUMAN	I	27	ENSP00000263923:V27I	ENSP00000263923:V27I	V	-	1	0	KDR	55682103	0.003000	0.15002	0.024000	0.17045	0.862000	0.49288	-0.366000	0.07563	0.072000	0.16694	0.650000	0.86243	GTT		0.348	KDR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250645.1			12	35	0	0	0	1	0	12	35					T	55987346	C	T	55987346	3	4	435	1	0	0	0	0	1	0	0	0	8139	478	17	3	4107	3	KDR	4	55987346	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	7735	55987346	135166930	2313	23238											
TMEM165	55858	broad.mit.edu	37	chr4	56284135	56284135	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gctctcaactaactacaattGtattggcagctagagaggtg	12	11	10	8	0	1	1	1	0	1	1	2	2	1	1	0	2	4	4	0	2	6	6			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:56284135G>A	ENST00000381334.5	+	4	1008	c.775G>A	c.(775-777)Gta>Ata	p.V259I	TMEM165_ENST00000542052.1_Missense_Mutation_p.V196I|TMEM165_ENST00000514904.1_3'UTR|TMEM165_ENST00000506198.1_Intron	NM_018475.4	NP_060945.2	Q9HC07	TM165_HUMAN	transmembrane protein 165	259					cellular calcium ion homeostasis (GO:0006874)|Golgi calcium ion transport (GO:0032472)|protein N-linked glycosylation (GO:0006487)|regulation of lysosomal lumen pH (GO:0035751)	endosome membrane (GO:0010008)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal membrane (GO:0005765)|trans-Golgi network membrane (GO:0032588)				endometrium(1)|kidney(1)|large_intestine(2)	4	Lung NSC(11;0.00545)|Glioma(25;0.08)|all_neural(26;0.101)|all_epithelial(27;0.135)		LUSC - Lung squamous cell carcinoma(4;1.62e-07)|Lung(4;1.34e-06)|Epithelial(7;0.0103)			AACTACAATTGTATTGGCAGC	0.358																																						ENST00000381334.5																			0				endometrium(1)|kidney(1)|large_intestine(2)	4						c.(775-777)Gta>Ata		transmembrane protein 165							89	87	88					4																	56284135		2203	4300	6503	SO:0001583	missense	55858					integral to membrane		g.chr4:56284135G>A	AF183409	CCDS3499.1	4q12	2014-03-13			ENSG00000134851	ENSG00000134851			30760	protein-coding gene	gene with protein product	"TPA regulated locus"	614726				3202867, 22683087, 23575229	Standard	NM_018475		Approved	TMPT27, TPARL, GDT1	uc003hax.3	Q9HC07	OTTHUMG00000128735	ENST00000381334.5:c.775G>A	4.37:g.56284135G>A	ENSP00000370736:p.Val259Ile					TMEM165_ENST00000506198.1_Intron|TMEM165_ENST00000514904.1_3'UTR|TMEM165_ENST00000542052.1_Missense_Mutation_p.V196I	p.V259I	NM_018475.3	NP_060945.2	Q9HC07	TM165_HUMAN	LUSC - Lung squamous cell carcinoma(4;1.62e-07)|Lung(4;1.34e-06)|Epithelial(7;0.0103)		4	1008	+	Lung NSC(11;0.00545)|Glioma(25;0.08)|all_neural(26;0.101)|all_epithelial(27;0.135)		259					A8K3P8|B4DHW1|Q9BTN9|Q9NZ34	Missense_Mutation	SNP	ENST00000381334.5	37	c.775G>A	CCDS3499.1	.	.	.	.	.	.	.	.	.	.	G	0.301	-0.973702	0.02215	.	.	ENSG00000134851	ENST00000381334;ENST00000542052	D;D	0.82526	-1.62;-1.62	5.42	5.42	0.78866	.	0.069027	0.64402	D	0.000018	T	0.63498	0.2516	N	0.01576	-0.805	0.40308	D	0.978688	B;B	0.19073	0.001;0.033	B;B	0.17098	0.009;0.017	T	0.61623	-0.7025	10	0.25106	T	0.35	-21.4931	17.3999	0.87456	0.0:0.0:1.0:0.0	.	196;259	B4DHW1;Q9HC07	.;TM165_HUMAN	I	259;196	ENSP00000370736:V259I;ENSP00000437816:V196I	ENSP00000370736:V259I	V	+	1	0	TMEM165	55978892	1.000000	0.71417	0.250000	0.24296	0.020000	0.10135	6.602000	0.74141	2.555000	0.86185	0.591000	0.81541	GTA		0.358	TMEM165-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250646.4	NM_018475		52	69	0	0	0	1	0	52	69					A	56284135	G	A	56284135	3	1	435	1	0	0	0	0	1	0	0	0	16077	1377	48	3	789	3	TMEM165	4	56284135	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	296789	56284135	134870141	2314	23239											
CLOCK	9575	broad.mit.edu	37	chr4	56336952	56336952	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcttccatctgtcatgattgCtaaaaaaaaaccatcaagag	16	10	6	9	0	3	2	2	1	1	1	4	2	4	2	2	0	2	2	2	0	6	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:56336952C>T	ENST00000309964.4	-	7	620	c.370G>A	c.(370-372)Gca>Aca	p.A124T	CLOCK_ENST00000513440.1_Missense_Mutation_p.A124T|CLOCK_ENST00000381322.1_Missense_Mutation_p.A124T	NM_004898.3	NP_004889.1	O15516	CLOCK_HUMAN	clock circadian regulator	124	PAS 1. {ECO:0000255|PROSITE- ProRule:PRU00140}.				cellular response to ionizing radiation (GO:0071479)|chromatin organization (GO:0006325)|circadian regulation of gene expression (GO:0032922)|circadian rhythm (GO:0007623)|DNA damage checkpoint (GO:0000077)|histone acetylation (GO:0016573)|negative regulation of glucocorticoid receptor signaling pathway (GO:2000323)|negative regulation of transcription, DNA-templated (GO:0045892)|photoperiodism (GO:0009648)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|regulation of hair cycle (GO:0042634)|regulation of insulin secretion (GO:0050796)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|regulation of type B pancreatic cell development (GO:2000074)|response to redox state (GO:0051775)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|chromosome (GO:0005694)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|E-box binding (GO:0070888)|histone acetyltransferase activity (GO:0004402)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity (GO:0000982)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(8)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38	Lung NSC(11;0.00335)|Glioma(25;0.08)|all_epithelial(27;0.0992)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(4;1.62e-07)|Lung(4;1.34e-06)|Epithelial(7;0.0107)			GTCATGATTGCTAAAAAAAAA	0.284																																						ENST00000309964.4																			0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(8)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						c.(370-372)Gca>Aca		clock circadian regulator							90	95	93					4																	56336952		2200	4298	6498	SO:0001583	missense	9575				circadian rhythm|photoperiodism|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|transcription factor complex	DNA binding|histone acetyltransferase activity|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr4:56336952C>T	AF011568	CCDS3500.1	4q12	2012-12-07	2012-12-07		ENSG00000134852	ENSG00000134852		"Chromatin-modifying enzymes / K-acetyltransferases", "Basic helix-loop-helix proteins"	2082	protein-coding gene	gene with protein product		601851	"clock (mouse) homolog", "clock homolog (mouse)"			10198158	Standard	NM_001267843		Approved	KIAA0334, KAT13D, bHLHe8	uc003hba.2	O15516	OTTHUMG00000102141	ENST00000309964.4:c.370G>A	4.37:g.56336952C>T	ENSP00000308741:p.Ala124Thr					CLOCK_ENST00000381322.1_Missense_Mutation_p.A124T|CLOCK_ENST00000513440.1_Missense_Mutation_p.A124T	p.A124T	NM_004898.3	NP_004889.1	O15516	CLOCK_HUMAN	LUSC - Lung squamous cell carcinoma(4;1.62e-07)|Lung(4;1.34e-06)|Epithelial(7;0.0107)		7	620	-	Lung NSC(11;0.00335)|Glioma(25;0.08)|all_epithelial(27;0.0992)|all_neural(26;0.101)		124			PAS 1.		A0AV01|A2I2N9|O14516|Q9UIT8	Missense_Mutation	SNP	ENST00000309964.4	37	c.370G>A	CCDS3500.1	.	.	.	.	.	.	.	.	.	.	C	36	5.802324	0.96960	.	.	ENSG00000134852	ENST00000309964;ENST00000381322;ENST00000513440	T;T;T	0.17054	2.3;2.3;2.3	5.58	5.58	0.84498	PAS (2);PAS fold (1);	0.000000	0.85682	D	0.000000	T	0.27098	0.0664	L	0.51914	1.62	0.80722	D	1	B	0.29766	0.256	B	0.39617	0.305	T	0.02398	-1.1165	10	0.52906	T	0.07	.	19.9348	0.97133	0.0:1.0:0.0:0.0	.	124	O15516	CLOCK_HUMAN	T	124	ENSP00000308741:A124T;ENSP00000370723:A124T;ENSP00000426983:A124T	ENSP00000308741:A124T	A	-	1	0	CLOCK	56031709	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.228000	0.78079	2.789000	0.95967	0.591000	0.81541	GCA		0.284	CLOCK-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361993.2	NM_004898		30	74	0	0	0	1	0	30	74					T	56336952	C	T	56336952	3	4	435	1	0	0	0	0	1	0	0	0	3549	797	28	3	2234	3	CLOCK	4	56336952	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	52817	56336952	134817324	2315	23240											
EXOC1	55763	broad.mit.edu	37	chr4	56724596	56724597	+	Frame_Shift_Ins	INS	-	-	T																															ggaaaaaagaaaaagaactgINSttttttatgtgccacaggtg																										TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:56724596_56724597insT	ENST00000381295.2	+	2	455_456	c.107_108insT	c.(106-111)tgttttfs	p.CF36fs	EXOC1_ENST00000346134.7_Frame_Shift_Ins_p.CF36fs|EXOC1_ENST00000349598.6_Frame_Shift_Ins_p.CF36fs	NM_001024924.1	NP_001020095.1	Q9NV70	EXOC1_HUMAN	exocyst complex component 1	36					cellular protein metabolic process (GO:0044267)|exocytosis (GO:0006887)|membrane organization (GO:0061024)|protein transport (GO:0015031)	exocyst (GO:0000145)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	35	Glioma(25;0.08)|all_neural(26;0.101)					AAAAAGAACTGTTTTTTATGTG	0.337																																						ENST00000381295.2																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	35						c.(106-108)tttfs		exocyst complex component 1																																				SO:0001589	frameshift_variant	55763				exocytosis|protein transport	exocyst	protein binding	g.chr4:56724596_56724597insT	AK027047	CCDS3502.1, CCDS3503.1	4q12	2013-01-22	2005-11-01	2005-11-01	ENSG00000090989	ENSG00000090989			30380	protein-coding gene	gene with protein product		607879	"SEC3-like 1 (S. cerevisiae)"	SEC3L1		11042152, 11406615	Standard	XM_005265747		Approved	SEC3, FLJ10893, BM-102, Sec3p	uc003hbf.1	Q9NV70	OTTHUMG00000102165	ENST00000381295.2:c.113dupT	4.37:g.56724602_56724602dupT	ENSP00000370695:p.Cys36fs					EXOC1_ENST00000346134.7_Frame_Shift_Ins_p.F36fs|EXOC1_ENST00000349598.6_Frame_Shift_Ins_p.F36fs	p.F36fs	NM_001024924.1	NP_001020095.1	Q9NV70	EXOC1_HUMAN			2	455_456	+	Glioma(25;0.08)|all_neural(26;0.101)		36					Q504V4|Q8WUE7|Q96T15|Q9NZE4	Frame_Shift_Ins	INS	ENST00000381295.2	37	c.107_108insT	CCDS3502.1																																																																																				0.337	EXOC1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361799.1	NM_018261		30	52						30	52	---	---	---	---	T	56724597	-	T	56724596	7	5	435	1	0	1	1	0	0	0	0	0	5301	1377	48	0	109	0	EXOC1	4	56724596	Frame_Shift_Ins	INS	-	TCGA-XK-AAIW-01A-11D-A41K-08	387644	56724596	134429680	2316	23241											
CEP135	9662	broad.mit.edu	37	chr4	56890766	56890766	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tctcctgaacatagaaatgtGtaattatcagaaaggtatgt	15	13	8	5	0	2	3	1	1	1	2	3	3	2	3	1	1	1	2	1	1	7	4	rs145993112		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:56890766G>A	ENST00000257287.4	+	25	3544	c.3420G>A	c.(3418-3420)gtG>gtA	p.V1140V		NM_025009.4	NP_079285.2	Q66GS9	CP135_HUMAN	centrosomal protein 135kDa	1140					centriole replication (GO:0007099)|centriole-centriole cohesion (GO:0010457)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centriole (GO:0005814)|centrosome (GO:0005813)|cytosol (GO:0005829)	protein C-terminus binding (GO:0008022)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(26)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	50	Glioma(25;0.08)|all_neural(26;0.101)					ATAGAAATGTGTAATTATCAG	0.423																																						ENST00000257287.4																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(26)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	50						c.(3418-3420)gtG>gtA		centrosomal protein 135kDa		G		0,4406		0,0,2203	186	172	177		3420	-4.8	0	4	dbSNP_134	177	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	CEP135	NM_025009.3		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		1140/1141	56890766	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	9662				centriole replication|centriole-centriole cohesion|G2/M transition of mitotic cell cycle	centriole|cytosol	protein C-terminus binding	g.chr4:56890766G>A	AB014535	CCDS33986.1	4q12	2014-02-20	2005-12-02	2005-12-02	ENSG00000174799	ENSG00000174799			29086	protein-coding gene	gene with protein product		611423	"KIAA0635", "centrosomal protein 4"	KIAA0635, CEP4		9734811, 14654843	Standard	NM_025009		Approved	FLJ13621	uc003hbi.4	Q66GS9	OTTHUMG00000160748	ENST00000257287.4:c.3420G>A	4.37:g.56890766G>A							p.V1140V	NM_025009.4	NP_079285.2	Q66GS9	CP135_HUMAN			25	3544	+	Glioma(25;0.08)|all_neural(26;0.101)		1140					B2RMY0|O75130|Q58F25|Q9H8H7	Silent	SNP	ENST00000257287.4	37	c.3420G>A	CCDS33986.1																																																																																				0.423	CEP135-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362092.2	NM_025009		70	98	0	0	0	1	0	70	98					A	56890766	G	A	56890766	2	1	435	1	0	0	0	0	0	0	0	1	3247	1364	48	3		3	CEP135	4	56890766	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	166170	56890766	134263510	2317	23242											
REST	5978	broad.mit.edu	37	chr4	57796717	57796717	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgccaaagggtgacagcaaaGtggaggagaataaaaagcaa	19	4	13	5	0	0	2	0	1	0	1	0	4	0	3	1	3	3	2	1	3	7	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:57796717G>T	ENST00000309042.7	+	4	2007	c.1693G>T	c.(1693-1695)Gtg>Ttg	p.V565L		NM_001193508.1|NM_005612.4	NP_001180437.1|NP_005603.3	Q13127	REST_HUMAN	RE1-silencing transcription factor	565	Lys-rich.				cardiac muscle cell myoblast differentiation (GO:0060379)|cellular response to drug (GO:0035690)|cellular response to electrical stimulus (GO:0071257)|cellular response to glucocorticoid stimulus (GO:0071385)|hematopoietic progenitor cell differentiation (GO:0002244)|histone H4 deacetylation (GO:0070933)|negative regulation by host of viral transcription (GO:0043922)|negative regulation of aldosterone biosynthetic process (GO:0032348)|negative regulation of amniotic stem cell differentiation (GO:2000798)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cortisol biosynthetic process (GO:2000065)|negative regulation of dense core granule biogenesis (GO:2000706)|negative regulation of gene expression (GO:0010629)|negative regulation of insulin secretion (GO:0046676)|negative regulation of mesenchymal stem cell differentiation (GO:2000740)|negative regulation of neurogenesis (GO:0050768)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of transcription, DNA-templated (GO:0045893)|potassium ion transmembrane transport (GO:0071805)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|core promoter binding (GO:0001047)|core promoter sequence-specific DNA binding (GO:0001046)|metal ion binding (GO:0046872)|outward rectifier potassium channel activity (GO:0015271)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	50	Glioma(25;0.08)|all_neural(26;0.181)					TGACAGCAAAGTGGAGGAGAA	0.343																																						ENST00000309042.7																			0				central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	50						c.(1693-1695)Gtg>Ttg		RE1-silencing transcription factor							20	22	21					4																	57796717		2179	4293	6472	SO:0001583	missense	5978				cardiac muscle cell myoblast differentiation|cellular response to drug|cellular response to electrical stimulus|cellular response to glucocorticoid stimulus|histone H4 deacetylation|negative regulation by host of viral transcription|negative regulation of aldosterone biosynthetic process|negative regulation of calcium ion-dependent exocytosis|negative regulation of cell proliferation|negative regulation of cortisol biosynthetic process|negative regulation of dense core granule biogenesis|negative regulation of insulin secretion|negative regulation of mesenchymal stem cell differentiation|negative regulation of neurogenesis|negative regulation of neuron differentiation|positive regulation of apoptosis|positive regulation of caspase activity|positive regulation of transcription, DNA-dependent	cytoplasm|transcriptional repressor complex	calcium channel activity|chromatin binding|core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|outward rectifier potassium channel activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|zinc ion binding	g.chr4:57796717G>T	U13879	CCDS3509.1	4q12	2008-02-05			ENSG00000084093	ENSG00000084093			9966	protein-coding gene	gene with protein product		600571				7871435, 7697725	Standard	NM_005612		Approved	NRSF, XBR	uc003hci.3	Q13127	OTTHUMG00000128770	ENST00000309042.7:c.1693G>T	4.37:g.57796717G>T	ENSP00000311816:p.Val565Leu						p.V565L	NM_001193508.1|NM_005612.4	NP_001180437.1|NP_005603.3	Q13127	REST_HUMAN			4	2007	+	Glioma(25;0.08)|all_neural(26;0.181)		565			Lys-rich.		A2RUE0|B9EGJ0|Q12956|Q12957|Q13134|Q59ER1|Q8IWI3	Missense_Mutation	SNP	ENST00000309042.7	37	c.1693G>T	CCDS3509.1	.	.	.	.	.	.	.	.	.	.	G	9.172	1.021463	0.19433	.	.	ENSG00000084093	ENST00000309042;ENST00000358605	T	0.46063	0.88	4.92	2.21	0.28008	.	0.307883	0.23424	N	0.048327	T	0.27933	0.0688	L	0.60455	1.87	0.09310	N	1	B;B	0.25955	0.138;0.011	B;B	0.21151	0.033;0.003	T	0.15065	-1.0450	10	0.10636	T	0.68	-4.1968	1.7634	0.02997	0.2499:0.1359:0.475:0.1393	.	542;565	F8WAN5;Q13127	.;REST_HUMAN	L	565;542	ENSP00000311816:V565L	ENSP00000311816:V565L	V	+	1	0	REST	57491474	0.002000	0.14202	0.854000	0.33618	0.761000	0.43186	1.006000	0.29847	0.497000	0.27926	0.561000	0.74099	GTG		0.343	REST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250691.2	NM_005612		13	13	1	0	1.05317e-09	1	1.12079e-09	13	13					T	57796717	G	T	57796717	3	4	435	1	0	0	0	0	1	0	0	0	13234	1029	36	5	1703	5	REST	4	57796717	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	905951	57796717	133357559	2318	23243											
C4orf14	84273	broad.mit.edu	37	chr4	57832797	57832797	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttgccttacctggagtaacgTatgacctgcatgcttctgat	8	14	9	10	1	1	2	0	2	1	0	1	3	1	3	3	1	5	4	3	1	3	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:57832797T>C	ENST00000264230.4	-	5	2990	c.1753A>G	c.(1753-1755)Acg>Gcg	p.T585A		NM_032313.2	NP_115689.1	Q8NC60	NOA1_HUMAN	nitric oxide associated 1	585					apoptotic process (GO:0006915)|GTP catabolic process (GO:0006184)|mitochondrial translation (GO:0032543)|regulation of cell death (GO:0010941)|regulation of cellular respiration (GO:0043457)|ribosome biogenesis (GO:0042254)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)										TGGAGTAACGTATGACCTGCA	0.478																																						ENST00000264230.4																			0											c.(1753-1755)Acg>Gcg		nitric oxide associated 1							146	114	125					4																	57832797		2203	4300	6503	SO:0001583	missense	84273						GTP binding	g.chr4:57832797T>C	AK098215	CCDS3510.1	4q12	2013-05-24	2011-10-19	2011-10-19	ENSG00000084092	ENSG00000084092			28473	protein-coding gene	gene with protein product	"nitric oxide synthase, mitochondrial (putative)", "mitochondrial GTPase 3 homolog (S. cerevisiae)"	614919	"chromosome 4 open reading frame 14"	C4orf14		16380119, 2118999, 21771794, 22447445	Standard	NM_032313		Approved	MGC3232, hAtNOS1, hNOA1, MTG3	uc003hck.3	Q8NC60	OTTHUMG00000128773	ENST00000264230.4:c.1753A>G	4.37:g.57832797T>C	ENSP00000264230:p.Thr585Ala						p.T585A	NM_032313.2	NP_115689.1	Q8NC60	CD014_HUMAN			5	2990	-			585					Q8N7L6|Q9BSQ9	Missense_Mutation	SNP	ENST00000264230.4	37	c.1753A>G	CCDS3510.1	.	.	.	.	.	.	.	.	.	.	T	1.581	-0.531688	0.04112	.	.	ENSG00000084092	ENST00000264230	T	0.29917	1.55	5.66	0.574	0.17368	.	0.823172	0.11354	N	0.572669	T	0.16428	0.0395	L	0.31120	0.905	0.09310	N	1	B	0.11235	0.004	B	0.09377	0.004	T	0.35226	-0.9797	10	0.07990	T	0.79	.	4.9699	0.14110	0.1326:0.2968:0.0:0.5706	.	585	Q8NC60	CD014_HUMAN	A	585	ENSP00000264230:T585A	ENSP00000264230:T585A	T	-	1	0	C4orf14	57527554	0.000000	0.05858	0.002000	0.10522	0.149000	0.21700	-0.030000	0.12308	0.089000	0.17243	0.374000	0.22700	ACG		0.478	NOA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250694.2	NM_032313		19	20	0	0	0	1	0	19	20					C	57832797	T	C	57832797	3	2	435	1	0	0	0	0	1	0	0	0	2251	1638	57	4	355	4	C4orf14	4	57832797	Missense_Mutation	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	36080	57832797	133321479	2319	23244											
C4orf14	84273	broad.mit.edu	37	chr4	57843409	57843409	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggacctggcccgtaggttttGctgtcgccgctcctcccgcc	2	10	12	17	4	0	0	0	0	0	0	3	1	2	1	6	3	1	4	6	3	1	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:57843409G>A	ENST00000264230.4	-	1	1580	c.343C>T	c.(343-345)Caa>Taa	p.Q115*	POLR2B_ENST00000441246.2_5'Flank|POLR2B_ENST00000381227.1_5'Flank|POLR2B_ENST00000314595.5_5'Flank|POLR2B_ENST00000431623.2_5'Flank	NM_032313.2	NP_115689.1	Q8NC60	NOA1_HUMAN	nitric oxide associated 1	115					apoptotic process (GO:0006915)|GTP catabolic process (GO:0006184)|mitochondrial translation (GO:0032543)|regulation of cell death (GO:0010941)|regulation of cellular respiration (GO:0043457)|ribosome biogenesis (GO:0042254)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)										CGTAGGTTTtgctgtcgccgc	0.706																																						ENST00000264230.4																			0											c.(343-345)Caa>Taa		nitric oxide associated 1							23	23	23					4																	57843409		2185	4263	6448	SO:0001587	stop_gained	84273						GTP binding	g.chr4:57843409G>A	AK098215	CCDS3510.1	4q12	2013-05-24	2011-10-19	2011-10-19	ENSG00000084092	ENSG00000084092			28473	protein-coding gene	gene with protein product	"nitric oxide synthase, mitochondrial (putative)", "mitochondrial GTPase 3 homolog (S. cerevisiae)"	614919	"chromosome 4 open reading frame 14"	C4orf14		16380119, 2118999, 21771794, 22447445	Standard	NM_032313		Approved	MGC3232, hAtNOS1, hNOA1, MTG3	uc003hck.3	Q8NC60	OTTHUMG00000128773	ENST00000264230.4:c.343C>T	4.37:g.57843409G>A	ENSP00000264230:p.Gln115*						p.Q115*	NM_032313.2	NP_115689.1	Q8NC60	CD014_HUMAN			1	1580	-			115					Q8N7L6|Q9BSQ9	Nonsense_Mutation	SNP	ENST00000264230.4	37	c.343C>T	CCDS3510.1	.	.	.	.	.	.	.	.	.	.	G	46	12.820950	0.99698	.	.	ENSG00000084092	ENST00000264230	.	.	.	4.06	3.17	0.36434	.	0.645512	0.14401	N	0.321885	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.39692	T	0.17	.	9.7932	0.40720	0.0:0.2086:0.7914:0.0	.	.	.	.	X	115	.	ENSP00000264230:Q115X	Q	-	1	0	C4orf14	57538166	0.458000	0.25760	0.773000	0.31616	0.659000	0.38960	0.853000	0.27777	1.797000	0.52628	0.305000	0.20034	CAA		0.706	NOA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250694.2	NM_032313		7	4	0	0	0	1	0	7	4					A	57843409	G	A	57843409	4	1	435	1	0	0	0	0	0	1	0	0	2251	1328	46	3	1781	3	C4orf14	4	57843409	Nonsense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	10612	57843409	133310867	2320	23245											
POLR2B	5431	broad.mit.edu	37	chr4	57860573	57860573	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttttgtttaatttcagccaCgatatttgctgaagtttgaa	10	19	7	5	1	1	2	1	2	0	0	1	3	1	2	1	0	2	3	1	0	4	8			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:57860573C>T	ENST00000381227.1	+	5	660	c.247C>T	c.(247-249)Cga>Tga	p.R83*	snoU13_ENST00000459266.1_RNA|POLR2B_ENST00000441246.2_Nonsense_Mutation_p.R76*|POLR2B_ENST00000314595.5_Nonsense_Mutation_p.R83*|POLR2B_ENST00000431623.2_Nonsense_Mutation_p.R8*			P30876	RPB2_HUMAN	polymerase (RNA) II (DNA directed) polypeptide B, 140kDa	83					7-methylguanosine mRNA capping (GO:0006370)|DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|nucleotide-excision repair (GO:0006289)|positive regulation of viral transcription (GO:0050434)|RNA splicing (GO:0008380)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032)	DNA-directed RNA polymerase II, core complex (GO:0005665)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|ribonucleoside binding (GO:0032549)			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(10)|large_intestine(9)|lung(17)|ovary(2)|prostate(4)|skin(1)	52	Glioma(25;0.08)|all_neural(26;0.181)					ATTTCAGCCACGATATTTGCT	0.318																																						ENST00000381227.1																			0				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(10)|large_intestine(9)|lung(17)|ovary(2)|prostate(4)|skin(1)	52						c.(247-249)Cga>Tga		polymerase (RNA) II (DNA directed) polypeptide B, 140kDa							46	44	44					4																	57860573		2203	4300	6503	SO:0001587	stop_gained	5431				mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|protein binding|ribonucleoside binding	g.chr4:57860573C>T		CCDS3511.1	4q12	2013-01-21	2002-08-29		ENSG00000047315	ENSG00000047315		"RNA polymerase subunits"	9188	protein-coding gene	gene with protein product		180661	"polymerase (RNA) II (DNA directed) polypeptide B (140kD)"			1518060, 8034326	Standard	NM_000938		Approved	RPB2	uc003hcl.1	P30876	OTTHUMG00000128771	ENST00000381227.1:c.247C>T	4.37:g.57860573C>T	ENSP00000370625:p.Arg83*					POLR2B_ENST00000441246.2_Nonsense_Mutation_p.R76*|POLR2B_ENST00000314595.5_Nonsense_Mutation_p.R83*|POLR2B_ENST00000431623.2_Nonsense_Mutation_p.R8*	p.R83*			P30876	RPB2_HUMAN			5	660	+	Glioma(25;0.08)|all_neural(26;0.181)		83					A8K1A8|Q8IZ61	Nonsense_Mutation	SNP	ENST00000381227.1	37	c.247C>T	CCDS3511.1	.	.	.	.	.	.	.	.	.	.	c	37	6.264451	0.97426	.	.	ENSG00000047315	ENST00000381227;ENST00000431623;ENST00000441246;ENST00000314595	.	.	.	5.18	0.911	0.19343	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	8.1272	0.31005	0.5175:0.3803:0.0:0.1022	.	.	.	.	X	83;8;76;83	.	ENSP00000312735:R83X	R	+	1	2	POLR2B	57555330	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	3.510000	0.53393	0.365000	0.24400	-0.375000	0.07067	CGA		0.318	POLR2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250692.1	NM_000938		13	18	0	0	0	1	0	13	18					T	57860573	C	T	57860573	4	4	435	1	0	0	0	0	0	1	0	0	12215	528	19	1	261	1	POLR2B	4	57860573	Nonsense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	17164	57860573	133293703	2321	23246											
LPHN3	23284	broad.mit.edu	37	chr4	62849225	62849225	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttttgagagtgaacattcacGtaggaaatacttttatctgg	12	15	9	5	1	2	2	1	2	1	1	2	4	2	3	0	2	2	1	0	2	5	7	rs147399182	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:62849225G>A	ENST00000514591.1	+	18	3265	c.2936G>A	c.(2935-2937)cGt>cAt	p.R979H	LPHN3_ENST00000512091.2_Missense_Mutation_p.R979H|LPHN3_ENST00000514157.1_Missense_Mutation_p.R979H|LPHN3_ENST00000507164.1_Missense_Mutation_p.R1047H|LPHN3_ENST00000514996.1_Missense_Mutation_p.R979H|LPHN3_ENST00000507625.1_Missense_Mutation_p.R1047H|LPHN3_ENST00000504896.1_Missense_Mutation_p.R979H|LPHN3_ENST00000509896.1_Missense_Mutation_p.R1047H|LPHN3_ENST00000508693.1_Missense_Mutation_p.R1047H|LPHN3_ENST00000545650.1_Missense_Mutation_p.R979H|LPHN3_ENST00000506720.1_Missense_Mutation_p.R1047H|LPHN3_ENST00000511324.1_Missense_Mutation_p.R1047H|LPHN3_ENST00000508946.1_Missense_Mutation_p.R979H|LPHN3_ENST00000506746.1_Missense_Mutation_p.R1047H|LPHN3_ENST00000506700.1_Missense_Mutation_p.R979H			Q9HAR2	LPHN3_HUMAN	latrophilin 3	966					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|G-protein coupled receptor activity (GO:0004930)			breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						GAACATTCACGTAGGAAATAC	0.458													G|||	2	0.000399361	0	0	5008	,	,		15774	0		0.002	False		,,,				2504	0					ENST00000512091.1																			0				breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						c.(2935-2937)cGt>cAt		latrophilin 3		G	HIS/ARG	0,3876		0,0,1938	217	207	210		2936	5.7	0.8	4	dbSNP_134	210	3,8295		0,3,4146	yes	missense	LPHN3	NM_015236.4	29	0,3,6084	AA,AG,GG		0.0362,0.0,0.0246	probably-damaging	979/1470	62849225	3,12171	1938	4149	6087	SO:0001583	missense	23284				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding	g.chr4:62849225G>A	AB018311	CCDS54768.1	4q13.1	2014-08-08				ENSG00000150471		"-", "GPCR / Class B : Orphans"	20974	protein-coding gene	gene with protein product						10994649	Standard	NM_015236		Approved	KIAA0768, LEC3	uc010ihh.3	Q9HAR2		ENST00000514591.1:c.2936G>A	4.37:g.62849225G>A	ENSP00000422533:p.Arg979His					LPHN3_ENST00000508693.1_Missense_Mutation_p.R1047H|LPHN3_ENST00000514157.1_Missense_Mutation_p.R979H|LPHN3_ENST00000507164.1_Missense_Mutation_p.R1047H|LPHN3_ENST00000504896.1_Missense_Mutation_p.R979H|LPHN3_ENST00000506720.1_Missense_Mutation_p.R1047H|LPHN3_ENST00000511324.1_Missense_Mutation_p.R1047H|LPHN3_ENST00000545650.1_Missense_Mutation_p.R979H|LPHN3_ENST00000509896.1_Missense_Mutation_p.R1047H|LPHN3_ENST00000508946.1_Missense_Mutation_p.R979H|LPHN3_ENST00000506746.1_Missense_Mutation_p.R1047H|LPHN3_ENST00000507625.1_Missense_Mutation_p.R1047H|LPHN3_ENST00000506700.1_Missense_Mutation_p.R979H|LPHN3_ENST00000514996.1_Missense_Mutation_p.R979H|LPHN3_ENST00000514591.1_Missense_Mutation_p.R979H	p.R979H			Q9HAR2	LPHN3_HUMAN			18	3683	+			966					E9PE04|O94867|Q9NWK5	Missense_Mutation	SNP	ENST00000514591.1	37	c.2936G>A	CCDS54768.1	3	0.0013736263736263737	0	0.0	0	0.0	0	0.0	3	0.00395778364116095	G	33	5.283207	0.95489	0.0	3.62E-4	ENSG00000150471	ENST00000512091;ENST00000514591;ENST00000509896;ENST00000511324;ENST00000506700;ENST00000545650;ENST00000295349;ENST00000280009;ENST00000507164;ENST00000508693;ENST00000507625;ENST00000514157;ENST00000504896;ENST00000508946;ENST00000506720;ENST00000506746;ENST00000514996	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.38240	1.15;1.15;1.15;1.15;1.15;1.15;1.15;1.15;1.15;1.15;1.15;1.15;1.15;1.15;1.15	5.72	5.72	0.89469	GPCR, family 2-like (1);	0.000000	0.85682	D	0.000000	T	0.61850	0.2380	M	0.68952	2.095	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.998;0.996	T	0.62821	-0.6773	10	0.87932	D	0	.	19.8917	0.96932	0.0:0.0:1.0:0.0	.	979;966;979	E9PE04;Q9HAR2;Q9HAR2-2	.;LPHN3_HUMAN;.	H	979;979;1047;1047;979;979;966;979;1047;1047;1047;979;979;979;1047;1047;979	ENSP00000423388:R979H;ENSP00000422533:R979H;ENSP00000423787:R1047H;ENSP00000425033:R1047H;ENSP00000424120:R979H;ENSP00000439831:R979H;ENSP00000421476:R1047H;ENSP00000424030:R1047H;ENSP00000421372:R1047H;ENSP00000425201:R979H;ENSP00000423434:R979H;ENSP00000421627:R979H;ENSP00000420931:R1047H;ENSP00000425884:R1047H;ENSP00000424258:R979H	ENSP00000280009:R979H	R	+	2	0	LPHN3	62531820	1.000000	0.71417	0.846000	0.33378	0.958000	0.62258	9.869000	0.99810	2.705000	0.92388	0.591000	0.81541	CGT		0.458	LPHN3-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000361765.1			13	78	0	0	0	1	0	13	78					A	62849225	G	A	62849225	3	1	435	1	0	0	0	0	1	0	0	0	8917	1145	40	1	2998	1	LPHN3	4	62849225	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	4988652	62849225	128305051	2322	23247											
EPHA5	2044	broad.mit.edu	37	chr4	66242775	66242775	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gccctcccacagccacattcGcagcaactgaaaagcaaaca	15	4	6	16	1	0	1	0	1	0	0	2	1	1	1	3	0	5	3	3	0	4	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:66242775G>A	ENST00000273854.3	-	9	2397	c.1797C>T	c.(1795-1797)tgC>tgT	p.C599C	EPHA5_ENST00000511294.1_Silent_p.C600C|EPHA5_ENST00000354839.4_Intron|EPHA5_ENST00000432638.2_Silent_p.C436C	NM_001281765.1|NM_004439.5	NP_001268694.1|NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5	599					axon guidance (GO:0007411)|cAMP-mediated signaling (GO:0019933)|ephrin receptor signaling pathway (GO:0048013)|hippocampus development (GO:0021766)|negative regulation of synapse assembly (GO:0051964)|neuron development (GO:0048666)|positive regulation of CREB transcription factor activity (GO:0032793)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|regulation of Rac GTPase activity (GO:0032314)	dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|GPI-linked ephrin receptor activity (GO:0005004)|transmembrane-ephrin receptor activity (GO:0005005)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						AGCCACATTCGCAGCAACTGA	0.473										TSP Lung(17;0.13)																												ENST00000273854.3																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						c.(1795-1797)tgC>tgT		EPH receptor A5							85	70	75					4																	66242775		2203	4300	6503	SO:0001819	synonymous_variant	2044				cAMP-mediated signaling|neuron development	dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum	ATP binding|transmembrane-ephrin receptor activity	g.chr4:66242775G>A	L36644	CCDS3513.1, CCDS3514.1, CCDS75131.1, CCDS75132.1, CCDS75133.1	4q13.1	2013-02-11	2004-10-28		ENSG00000145242	ENSG00000145242		"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3389	protein-coding gene	gene with protein product		600004	"EphA5"			9267020, 7528718	Standard	NM_004439		Approved	Hek7, TYRO4, CEK7, EHK1	uc003hcy.3	P54756	OTTHUMG00000129273	ENST00000273854.3:c.1797C>T	4.37:g.66242775G>A		TSP Lung(17;0.13)				EPHA5_ENST00000511294.1_Silent_p.C600C|EPHA5_ENST00000354839.4_Intron|EPHA5_ENST00000432638.2_Silent_p.C436C	p.C599C	NM_004439.5	NP_004430.4	P54756	EPHA5_HUMAN			9	2397	-			599					Q7Z3F2	Silent	SNP	ENST00000273854.3	37	c.1797C>T	CCDS3513.1																																																																																				0.473	EPHA5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251388.2	NM_004439		3	5	0	0	0	1	0	3	5					A	66242775	G	A	66242775	2	1	435	1	0	0	0	0	0	0	0	1	5170	1079	38	1		1	EPHA5	4	66242775	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	3393550	66242775	124911501	2323	23248											
EPHA5	2044	broad.mit.edu	37	chr4	66356360	66356360	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttccaccagtgtcagcaggCggaatccattccagaaagac	12	7	9	13	1	1	2	1	0	0	2	4	3	4	3	4	2	1	1	4	2	2	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:66356360C>T	ENST00000273854.3	-	5	1737	c.1137G>A	c.(1135-1137)ccG>ccA	p.P379P	EPHA5_ENST00000511294.1_Silent_p.P379P|EPHA5_ENST00000354839.4_Silent_p.P379P|EPHA5_ENST00000432638.2_Intron	NM_001281765.1|NM_004439.5	NP_001268694.1|NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5	379	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|cAMP-mediated signaling (GO:0019933)|ephrin receptor signaling pathway (GO:0048013)|hippocampus development (GO:0021766)|negative regulation of synapse assembly (GO:0051964)|neuron development (GO:0048666)|positive regulation of CREB transcription factor activity (GO:0032793)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|regulation of Rac GTPase activity (GO:0032314)	dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|GPI-linked ephrin receptor activity (GO:0005004)|transmembrane-ephrin receptor activity (GO:0005005)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						TGTCAGCAGGCGGAATCCATT	0.458										TSP Lung(17;0.13)																												ENST00000273854.3																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						c.(1135-1137)ccG>ccA		EPH receptor A5							84	69	74					4																	66356360		2203	4300	6503	SO:0001819	synonymous_variant	2044				cAMP-mediated signaling|neuron development	dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum	ATP binding|transmembrane-ephrin receptor activity	g.chr4:66356360C>T	L36644	CCDS3513.1, CCDS3514.1, CCDS75131.1, CCDS75132.1, CCDS75133.1	4q13.1	2013-02-11	2004-10-28		ENSG00000145242	ENSG00000145242		"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3389	protein-coding gene	gene with protein product		600004	"EphA5"			9267020, 7528718	Standard	NM_004439		Approved	Hek7, TYRO4, CEK7, EHK1	uc003hcy.3	P54756	OTTHUMG00000129273	ENST00000273854.3:c.1137G>A	4.37:g.66356360C>T		TSP Lung(17;0.13)				EPHA5_ENST00000511294.1_Silent_p.P379P|EPHA5_ENST00000354839.4_Silent_p.P379P|EPHA5_ENST00000432638.2_Intron	p.P379P	NM_004439.5	NP_004430.4	P54756	EPHA5_HUMAN			5	1737	-			379			Fibronectin type-III 1.		Q7Z3F2	Silent	SNP	ENST00000273854.3	37	c.1137G>A	CCDS3513.1																																																																																				0.458	EPHA5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251388.2	NM_004439		10	20	0	0	0	1	0	10	20					T	66356360	C	T	66356360	2	4	435	1	0	0	0	0	0	0	0	1	5170	755	27	1		1	EPHA5	4	66356360	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	113585	66356360	124797916	2324	23249											
CENPC1	1060	broad.mit.edu	37	chr4	68374560	68374560	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	atcaagatttttcttcttagCcaagtctgcctcatcacttt	9	17	4	11	0	6	1	3	0	3	1	6	1	6	1	2	0	2	0	2	0	3	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:68374560C>T	ENST00000273853.6	-	10	2126	c.1876G>A	c.(1876-1878)Gct>Act	p.A626T		NM_001812.2	NP_001803.2	Q03188	CENPC_HUMAN	centromere protein C	626					chromosome segregation (GO:0007059)|kinetochore assembly (GO:0051382)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	condensed nuclear chromosome, centromeric region (GO:0000780)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)	centromeric DNA binding (GO:0019237)|DNA binding (GO:0003677)										TTCTTCTTAGCCAAGTCTGCC	0.353																																						ENST00000273853.6																			0											c.(1876-1878)Gct>Act		centromere protein C							86	81	83					4																	68374560		1888	4110	5998	SO:0001583	missense	1060							g.chr4:68374560C>T	M95724	CCDS47063.1	4q13.2	2013-11-05	2013-07-03	2013-07-03	ENSG00000145241	ENSG00000145241			1854	protein-coding gene	gene with protein product		117141	"centromere protein C 1"	CENPC1		7959789	Standard	XR_245245		Approved	CENP-C, hcp-4, MIF2	uc003hdd.1	Q03188	OTTHUMG00000160735	ENST00000273853.6:c.1876G>A	4.37:g.68374560C>T	ENSP00000273853:p.Ala626Thr						p.A626T	NM_001812.2	NP_001803.2					10	2126	-								Q8IW27|Q9P0M5	Missense_Mutation	SNP	ENST00000273853.6	37	c.1876G>A	CCDS47063.1	.	.	.	.	.	.	.	.	.	.	C	3.136	-0.177357	0.06380	.	.	ENSG00000145241	ENST00000273853	.	.	.	5.1	0.0964	0.14490	.	0.845848	0.10328	N	0.687919	T	0.27559	0.0677	L	0.48642	1.525	0.09310	N	1	B;B	0.24043	0.096;0.02	B;B	0.15052	0.012;0.007	T	0.24621	-1.0155	9	0.14656	T	0.56	-2.2829	3.4628	0.07539	0.1743:0.4393:0.0:0.3864	.	626;626	Q8IW27;Q03188	.;CENPC_HUMAN	T	626	.	ENSP00000273853:A626T	A	-	1	0	CENPC1	68057155	0.003000	0.15002	0.000000	0.03702	0.015000	0.08874	0.473000	0.22132	0.121000	0.18284	-0.142000	0.14014	GCT		0.353	CENPC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362001.2			16	24	0	0	0	1	0	16	24					T	68374560	C	T	68374560	3	4	435	1	0	0	0	0	1	0	0	0	3229	739	26	3	995	3	CENPC1	4	68374560	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	2018200	68374560	122779716	2325	23250											
UBA6	55236	broad.mit.edu	37	chr4	68543398	68543398	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaagatgatgtgacatgaacGtatggatttagttctgcaat	13	13	11	4	1	1	4	0	3	1	1	1	6	1	5	0	1	2	3	0	1	5	4	rs371915320		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:68543398G>A	ENST00000322244.5	-	6	455	c.396C>T	c.(394-396)taC>taT	p.Y132Y	UBA6_ENST00000420827.2_Silent_p.Y132Y	NM_018227.5	NP_060697.4	A0AVT1	UBA6_HUMAN	ubiquitin-like modifier activating enzyme 6	132					protein ubiquitination (GO:0016567)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|FAT10 activating enzyme activity (GO:0019780)|ligase activity (GO:0016874)	p.Y132*(1)		central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(6)|liver(1)|lung(23)|skin(2)|upper_aerodigestive_tract(2)	44						TGACATGAACGTATGGATTTA	0.294																																						ENST00000322244.4																			1	Substitution - Nonsense(1)	p.Y132*(1)	large_intestine(1)	central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(6)|liver(1)|lung(23)|skin(2)|upper_aerodigestive_tract(2)	44						c.(394-396)taC>taT		ubiquitin-like modifier activating enzyme 6		A		1,4405	825.8+/-416.5	0,1,2202	156	152	153		396	1.2	1	4		153	0,8596		0,0,4298	no	coding-synonymous	UBA6	NM_018227.5		0,1,6500	AA,AG,GG		0.0,0.0227,0.0077		132/1053	68543398	1,13001	2203	4298	6501	SO:0001819	synonymous_variant	55236				protein ubiquitination|ubiquitin-dependent protein catabolic process	cytoplasm	ATP binding|FAT10 activating enzyme activity|ligase activity|protein binding	g.chr4:68543398G>A	AK094164	CCDS3516.1	4q13.2	2008-02-05	2007-11-30	2007-11-30	ENSG00000033178	ENSG00000033178		"Ubiquitin-like modifier activating enzymes"	25581	protein-coding gene	gene with protein product	"UBA6, ubiquitin-activating enzyme E1"	611361	"ubiquitin-activating enzyme E1-like 2"	UBE1L2		17580310	Standard	NM_018227		Approved	FLJ10808	uc003hdg.4	A0AVT1	OTTHUMG00000129299	ENST00000322244.5:c.396C>T	4.37:g.68543398G>A						UBA6_ENST00000420827.2_Silent_p.Y132Y	p.Y132Y	NM_018227.5	NP_060697.4	A0AVT1	UBA6_HUMAN			6	455	-			132					A6N8M7|B2RAV3|Q4W5K0|Q6UV21|Q86T78|Q86TC7|Q8N5T3|Q8N9E4|Q9H3T7|Q9NVC9	Silent	SNP	ENST00000322244.5	37	c.396C>T	CCDS3516.1																																																																																				0.294	UBA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251429.2	NM_018227		20	31	0	0	0	1	0	20	31					A	68543398	G	A	68543398	2	1	435	1	0	0	0	0	0	0	0	1	16829	1140	40	1		1	UBA6	4	68543398	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	168838	68543398	122610878	2326	23251											
GNRHR	2798	broad.mit.edu	37	chr4	68619935	68619935	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaaaaggaagaaagtaaccGtcactcggatctttccagac	16	7	9	9	2	2	2	1	0	1	2	4	5	3	4	2	2	1	1	2	2	5	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:68619935G>A	ENST00000226413.4	-	1	143	c.119C>T	c.(118-120)aCg>aTg	p.T40M	UBA6-AS1_ENST00000500538.2_RNA|UBA6-AS1_ENST00000502758.1_RNA|GNRHR_ENST00000420975.2_Missense_Mutation_p.T40M	NM_000406.2	NP_000397.1	P30968	GNRHR_HUMAN	gonadotropin-releasing hormone receptor	40					cellular response to gonadotropin-releasing hormone (GO:0097211)|G-protein coupled receptor signaling pathway (GO:0007186)|multicellular organismal development (GO:0007275)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	gonadotropin-releasing hormone receptor activity (GO:0004968)			endometrium(2)|large_intestine(4)|liver(1)|lung(4)|ovary(1)|urinary_tract(1)	13					Abarelix(DB00106)|Buserelin(DB06719)|Cetrorelix(DB00050)|Danazol(DB01406)|Degarelix(DB06699)|Gonadorelin(DB00644)|Goserelin(DB00014)|Leuprolide(DB00007)|Nafarelin(DB00666)	GAAAGTAACCGTCACTCGGAT	0.453																																						ENST00000226413.4																			0				endometrium(2)|large_intestine(4)|liver(1)|lung(4)|ovary(1)|urinary_tract(1)	13						c.(118-120)aCg>aTg		gonadotropin-releasing hormone receptor	Abarelix(DB00106)|Cetrorelix(DB00050)|Danazol(DB01406)|Gonadorelin(DB00644)|Leuprolide(DB00007)|Nafarelin(DB00666)						94	102	99					4																	68619935		2203	4300	6503	SO:0001583	missense	0				multicellular organismal development	integral to plasma membrane	gonadotropin-releasing hormone receptor activity	g.chr4:68619935G>A		CCDS3517.1, CCDS47064.1	4q21.2	2012-08-08			ENSG00000109163	ENSG00000109163		"GPCR / Class A : Gonadotropin-releasing hormone receptors"	4421	protein-coding gene	gene with protein product		138850		GRHR		8386108	Standard	NM_000406		Approved	LHRHR	uc003hdn.3	P30968	OTTHUMG00000129302	ENST00000226413.4:c.119C>T	4.37:g.68619935G>A	ENSP00000226413:p.Thr40Met					RP11-453E17.1_ENST00000500538.2_RNA|RP11-453E17.1_ENST00000502758.1_RNA|GNRHR_ENST00000420975.2_Missense_Mutation_p.T40M	p.T40M	NM_000406.2	NP_000397.1	P30968	GNRHR_HUMAN			1	143	-			40					O75793|Q14D13|Q92644	Missense_Mutation	SNP	ENST00000226413.4	37	c.119C>T	CCDS3517.1	.	.	.	.	.	.	.	.	.	.	G	2.431	-0.330875	0.05314	.	.	ENSG00000109163	ENST00000226413;ENST00000420975	T;T	0.37752	1.18;1.18	6.03	1.89	0.25635	.	0.415049	0.23477	N	0.047748	T	0.18002	0.0432	N	0.19112	0.55	0.09310	N	0.999999	B;P	0.36048	0.101;0.534	B;B	0.24269	0.006;0.052	T	0.10268	-1.0637	10	0.48119	T	0.1	-3.4725	8.8289	0.35072	0.4012:0.0:0.5988:0.0	.	40;40	P30968;P30968-2	GNRHR_HUMAN;.	M	40	ENSP00000226413:T40M;ENSP00000397561:T40M	ENSP00000226413:T40M	T	-	2	0	GNRHR	68302530	0.003000	0.15002	0.255000	0.24374	0.009000	0.06853	0.860000	0.27871	0.436000	0.26393	-0.793000	0.03317	ACG		0.453	GNRHR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251432.2			4	67	0	0	0	1	0	4	67					A	68619935	G	A	68619935	3	1	435	1	0	0	0	0	1	0	0	0	6549	1145	40	1	879	1	GNRHR	4	68619935	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	76537	68619935	122534341	2327	23252											
TMPRSS11F	389208	broad.mit.edu	37	chr4	68995533	68995533	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aagctgaatacttacgcgtaCatcatgaacccaggactggg	13	8	10	10	2	1	2	1	2	0	0	1	3	1	3	1	2	5	2	1	2	6	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:68995533C>T	ENST00000356291.2	-	1	65	c.6G>A	c.(4-6)atG>atA	p.M2I		NM_207407.2	NP_997290.2	Q6ZWK6	TM11F_HUMAN	transmembrane protease, serine 11F	2						extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(4)	39						CTTACGCGTACATCATGAACC	0.463																																						ENST00000356291.2																			0				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(4)	39						c.(4-6)atG>atA		transmembrane protease, serine 11F							130	110	117					4																	68995533		2203	4300	6503	SO:0001583	missense	389208				proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity	g.chr4:68995533C>T	AK122625	CCDS3520.1	4q13.2	2010-04-13			ENSG00000198092	ENSG00000198092		"Serine peptidases / Transmembrane"	29994	protein-coding gene	gene with protein product							Standard	NM_207407		Approved	FLJ16046	uc003hdt.1	Q6ZWK6	OTTHUMG00000129307	ENST00000356291.2:c.6G>A	4.37:g.68995533C>T	ENSP00000348639:p.Met2Ile						p.M2I	NM_207407.2	NP_997290.2	Q6ZWK6	TM11F_HUMAN			1	65	-			2					A8MXX2	Missense_Mutation	SNP	ENST00000356291.2	37	c.6G>A	CCDS3520.1	.	.	.	.	.	.	.	.	.	.	C	12.74	2.028723	0.35797	.	.	ENSG00000198092	ENST00000356291	D	0.87491	-2.26	5.24	5.24	0.73138	.	0.862762	0.10297	N	0.691606	D	0.85991	0.5826	N	0.08118	0	0.35943	D	0.83336	P	0.45126	0.851	P	0.58391	0.838	D	0.86056	0.1529	10	0.62326	D	0.03	.	14.2005	0.65699	0.0:1.0:0.0:0.0	.	2	Q6ZWK6	TM11F_HUMAN	I	2	ENSP00000348639:M2I	ENSP00000348639:M2I	M	-	3	0	TMPRSS11F	68678128	1.000000	0.71417	1.000000	0.80357	0.350000	0.29205	3.221000	0.51215	2.727000	0.93392	0.650000	0.86243	ATG		0.463	TMPRSS11F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251439.1	NM_207407		9	28	0	0	0	1	0	9	28					T	68995533	C	T	68995533	3	4	435	1	0	0	0	0	1	0	0	0	16240	478	17	3	1350	3	TMPRSS11F	4	68995533	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	375598	68995533	122158743	2328	23253											
UGT2B15	7366	broad.mit.edu	37	chr4	69519894	69519894	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cgcaaacaagggaatgcccaCcatagggatcccatggtaga	14	5	11	11	1	0	1	0	0	0	1	1	3	1	3	3	3	2	2	3	3	5	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:69519894C>T	ENST00000338206.5	-	5	1183	c.1174G>A	c.(1174-1176)Gtg>Atg	p.V392M		NM_001076.3	NP_001067.2	P54855	UDB15_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B15	392					cellular glucuronidation (GO:0052695)|steroid metabolic process (GO:0008202)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)									Acetaminophen(DB00316)|Dabigatran etexilate(DB06695)|Ezetimibe(DB00973)|Lorazepam(DB00186)|Morphine(DB00295)|Oxazepam(DB00842)|Valproic Acid(DB00313)	GGAATGCCCACCATAGGGATC	0.458																																						ENST00000338206.5																			0											c.(1174-1176)Gtg>Atg		UDP glucuronosyltransferase 2 family, polypeptide B15							187	183	185					4																	69519894		2203	4296	6499	SO:0001583	missense	7366				steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	g.chr4:69519894C>T	AF180322	CCDS3524.1	4q13	2008-02-05	2005-07-20		ENSG00000196620	ENSG00000196620		"UDP glucuronosyltransferases"	12546	protein-coding gene	gene with protein product		600069	"UDP glycosyltransferase 2 family, polypeptide B15"			7835904	Standard	NM_001076		Approved	UGT2B8	uc021xow.1	P54855	OTTHUMG00000161507	ENST00000338206.5:c.1174G>A	4.37:g.69519894C>T	ENSP00000341045:p.Val392Met						p.V392M	NM_001076.3	NP_001067.2	P54855	UDB15_HUMAN			5	1183	-			392					A6NDX0|A6NNJ4|A8K054|P23765|Q9UK63	Missense_Mutation	SNP	ENST00000338206.5	37	c.1174G>A	CCDS3524.1	.	.	.	.	.	.	.	.	.	.	c	13.44	2.238878	0.39598	.	.	ENSG00000196620	ENST00000338206	T	0.70282	-0.47	2.57	2.57	0.30868	.	0.000000	0.64402	U	0.000007	D	0.88058	0.6335	H	0.97365	3.99	0.27117	N	0.962225	D	0.89917	1.0	D	0.83275	0.996	T	0.80828	-0.1208	10	0.87932	D	0	.	10.831	0.46661	0.0:1.0:0.0:0.0	.	392	P54855	UDB15_HUMAN	M	392	ENSP00000341045:V392M	ENSP00000341045:V392M	V	-	1	0	UGT2B15	69202489	0.996000	0.38824	1.000000	0.80357	0.443000	0.32047	0.585000	0.23879	1.421000	0.47157	0.455000	0.32223	GTG		0.458	UGT2B15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365172.1	NM_001076		62	92	0	0	0	1	0	62	92					T	69519894	C	T	69519894	3	4	435	1	0	0	0	0	1	0	0	0	16955	507	18	3	2043	3	UGT2B15	4	69519894	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	524361	69519894	121634382	2329	23254											
UGT2B10	7365	broad.mit.edu	37	chr4	69688049	69688049	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgtggtgttttctctggggTcaatggtcagtaacatgaca	8	15	12	6	0	3	1	2	1	1	0	4	1	3	1	0	4	1	2	0	4	2	4	rs111420468		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:69688049T>C	ENST00000265403.7	+	3	955	c.928T>C	c.(928-930)Tca>Cca	p.S310P	UGT2B10_ENST00000458688.2_Missense_Mutation_p.S226P	NM_001075.4	NP_001066.1	P36537	UDB10_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B10	310					lipid metabolic process (GO:0006629)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)			endometrium(3)|kidney(4)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	29						TTCTCTGGGGTCAATGGTCAG	0.423																																					Melanoma(133;755 1763 25578 26334 46021)	ENST00000265403.7																			0				endometrium(3)|kidney(4)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	29						c.(928-930)Tca>Cca		UDP glucuronosyltransferase 2 family, polypeptide B10							152	138	142					4																	69688049		2203	4298	6501	SO:0001583	missense	7365				lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	g.chr4:69688049T>C	X63359	CCDS75135.1, CCDS75136.1	4q13.3	2008-02-05	2005-07-20			ENSG00000109181		"UDP glucuronosyltransferases"	12544	protein-coding gene	gene with protein product		600070	"UDP glycosyltransferase 2 family, polypeptide B10"			8333863	Standard	NM_001075		Approved		uc003hee.3	P36537		ENST00000265403.7:c.928T>C	4.37:g.69688049T>C	ENSP00000265403:p.Ser310Pro					UGT2B10_ENST00000458688.2_Missense_Mutation_p.S226P	p.S310P	NM_001075.4	NP_001066.1	P36537	UDB10_HUMAN			3	955	+			310					A8K9M3|B4DPP1|Q14CR8	Missense_Mutation	SNP	ENST00000265403.7	37	c.928T>C		.	.	.	.	.	.	.	.	.	.	t	10.80	1.452868	0.26074	.	.	ENSG00000109181	ENST00000265403;ENST00000458688	T;T	0.78364	-1.17;2.18	2.55	2.55	0.30701	.	0.000000	0.64402	U	0.000004	D	0.90841	0.7123	H	0.97983	4.12	0.24484	N	0.994333	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.997	T	0.82267	-0.0542	10	0.87932	D	0	.	8.3481	0.32286	0.0:0.0:0.0:1.0	.	226;310	B4DPP1;P36537	.;UDB10_HUMAN	P	310;226	ENSP00000265403:S310P;ENSP00000413420:S226P	ENSP00000265403:S310P	S	+	1	0	UGT2B10	69722638	0.975000	0.34042	0.530000	0.27963	0.027000	0.11550	2.437000	0.44828	1.031000	0.39867	0.155000	0.16302	TCA		0.423	UGT2B10-001	KNOWN	non_canonical_polymorphism|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000365169.1	NM_001075		9	150	0	0	0	1	0	9	150					C	69688049	T	C	69688049	3	2	435	1	0	0	0	0	1	0	0	0	16953	1667	58	4	938	4	UGT2B10	4	69688049	Missense_Mutation	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	168155	69688049	121466227	2330	23255											
UGT2B10	7365	broad.mit.edu	37	chr4	69696393	69696393	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccctggatcgagcagtcttCtggattgaatttgtcatgcg	7	13	11	10	2	3	1	1	1	2	0	4	4	3	3	2	2	2	1	2	2	1	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:69696393C>A	ENST00000265403.7	+	6	1410	c.1383C>A	c.(1381-1383)ttC>ttA	p.F461L	UGT2B10_ENST00000458688.2_Missense_Mutation_p.F377L	NM_001075.4	NP_001066.1	P36537	UDB10_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B10	461					lipid metabolic process (GO:0006629)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)			endometrium(3)|kidney(4)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	29						GAGCAGTCTTCTGGATTGAAT	0.418																																					Melanoma(133;755 1763 25578 26334 46021)	ENST00000265403.7																			0				endometrium(3)|kidney(4)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	29						c.(1381-1383)ttC>ttA		UDP glucuronosyltransferase 2 family, polypeptide B10							137	136	136					4																	69696393		2203	4297	6500	SO:0001583	missense	7365				lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	g.chr4:69696393C>A	X63359	CCDS75135.1, CCDS75136.1	4q13.3	2008-02-05	2005-07-20			ENSG00000109181		"UDP glucuronosyltransferases"	12544	protein-coding gene	gene with protein product		600070	"UDP glycosyltransferase 2 family, polypeptide B10"			8333863	Standard	NM_001075		Approved		uc003hee.3	P36537		ENST00000265403.7:c.1383C>A	4.37:g.69696393C>A	ENSP00000265403:p.Phe461Leu					UGT2B10_ENST00000458688.2_Missense_Mutation_p.F377L	p.F461L	NM_001075.4	NP_001066.1	P36537	UDB10_HUMAN			6	1410	+			461					A8K9M3|B4DPP1|Q14CR8	Missense_Mutation	SNP	ENST00000265403.7	37	c.1383C>A		.	.	.	.	.	.	.	.	.	.	c	12.12	1.843087	0.32606	.	.	ENSG00000109181	ENST00000265403;ENST00000458688	T;T	0.70986	-0.53;-0.53	2.43	1.57	0.23409	.	0.078254	0.51477	U	0.000085	D	0.85057	0.5610	H	0.95574	3.69	0.25917	N	0.983166	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.98	T	0.74844	-0.3526	10	0.87932	D	0	.	4.6408	0.12548	0.0:0.6766:0.0:0.3234	.	377;461	B4DPP1;P36537	.;UDB10_HUMAN	L	461;377	ENSP00000265403:F461L;ENSP00000413420:F377L	ENSP00000265403:F461L	F	+	3	2	UGT2B10	69730982	1.000000	0.71417	0.996000	0.52242	0.087000	0.18053	3.140000	0.50585	0.240000	0.21263	-1.111000	0.02071	TTC		0.418	UGT2B10-001	KNOWN	non_canonical_polymorphism|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000365169.1	NM_001075		59	89	1	0	1.33661e-31	1	1.49889e-31	59	89					A	69696393	C	A	69696393	3	1	435	1	0	0	0	0	1	0	0	0	16953	912	32	5	1405	5	UGT2B10	4	69696393	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	8344	69696393	121457883	2331	23256											
UGT2B7	7364	broad.mit.edu	37	chr4	69978269	69978269	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tctggattgaatttgtcatgCgccacaaaggagctaaacac	13	10	9	9	1	2	1	1	1	1	0	2	3	2	3	1	2	3	1	1	2	4	3	rs201354412		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:69978269C>T	ENST00000305231.7	+	6	1451	c.1405C>T	c.(1405-1407)Cgc>Tgc	p.R469C	UGT2B7_ENST00000509763.1_3'UTR|UGT2B7_ENST00000508661.1_3'UTR	NM_001074.2	NP_001065.2	P16662	UD2B7_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B7	469					androgen metabolic process (GO:0008209)|cellular glucuronidation (GO:0052695)|lipid metabolic process (GO:0006629)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	glucuronosyltransferase activity (GO:0015020)			autonomic_ganglia(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38					Atorvastatin(DB01076)|Carbamazepine(DB00564)|Chenodeoxycholic acid(DB06777)|Codeine(DB00318)|Dabigatran etexilate(DB06695)|Dapagliflozin(DB06292)|Diclofenac(DB00586)|Epirubicin(DB00445)|Etodolac(DB00749)|Ezetimibe(DB00973)|Flunitrazepam(DB01544)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Ibuprofen(DB01050)|Indomethacin(DB00328)|Losartan(DB00678)|Lovastatin(DB00227)|Mitiglinide(DB01252)|Morphine(DB00295)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Naproxen(DB00788)|Oxazepam(DB00842)|Pitavastatin(DB08860)|Silodosin(DB06207)|Simvastatin(DB00641)|Suprofen(DB00870)|Tapentadol(DB06204)|Valproic Acid(DB00313)|Zidovudine(DB00495)	ATTTGTCATGCGCCACAAAGG	0.463													c|||	1	0.000199681	0	0	5008	,	,		16497	0		0	False		,,,				2504	0.001					ENST00000305231.7																			0				autonomic_ganglia(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						c.(1405-1407)Cgc>Tgc		UDP glucuronosyltransferase 2 family, polypeptide B7							142	138	139					4																	69978269		2203	4300	6503	SO:0001583	missense	7364				lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	g.chr4:69978269C>T	BC030974	CCDS3526.1	4q13	2008-02-05	2005-07-20		ENSG00000171234	ENSG00000171234		"UDP glucuronosyltransferases"	12554	protein-coding gene	gene with protein product		600068	"UDP glycosyltransferase 2 family, polypeptide B7"			2159463, 7835904	Standard	NM_001074		Approved	UGT2B9	uc003heg.4	P16662	OTTHUMG00000129404	ENST00000305231.7:c.1405C>T	4.37:g.69978269C>T	ENSP00000304811:p.Arg469Cys					UGT2B7_ENST00000508661.1_3'UTR|UGT2B7_ENST00000509763.1_3'UTR	p.R469C	NM_001074.2	NP_001065.2	P16662	UD2B7_HUMAN			6	1451	+			469					B2R810|Q6GTW0	Missense_Mutation	SNP	ENST00000305231.7	37	c.1405C>T	CCDS3526.1	.	.	.	.	.	.	.	.	.	.	C	11.76	1.735340	0.30774	.	.	ENSG00000171234	ENST00000305231	T	0.72942	-0.7	2.13	2.13	0.27403	.	0.000000	0.64402	U	0.000003	T	0.77772	0.4180	M	0.92122	3.275	0.80722	D	1	P	0.39903	0.694	B	0.43783	0.431	T	0.80498	-0.1356	9	.	.	.	.	9.956	0.41666	0.0:1.0:0.0:0.0	.	469	P16662	UD2B7_HUMAN	C	469	ENSP00000304811:R469C	.	R	+	1	0	UGT2B7	70012858	1.000000	0.71417	0.998000	0.56505	0.835000	0.47333	1.949000	0.40313	1.192000	0.43071	0.306000	0.20318	CGC		0.463	UGT2B7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251560.1	NM_001074		71	94	0	0	0	1	0	71	94					T	69978269	C	T	69978269	3	4	435	1	0	0	0	0	1	0	0	0	16959	768	27	1	1427	1	UGT2B7	4	69978269	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	281876	69978269	121176007	2332	23257											
UGT2B28	54490	broad.mit.edu	37	chr4	70152508	70152508	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagagctctggtgaaaatggTgttgtggtgttttctctggg	6	15	15	5	0	2	2	0	1	2	1	3	2	2	2	0	4	1	3	0	4	2	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:70152508T>C	ENST00000335568.5	+	3	911	c.909T>C	c.(907-909)ggT>ggC	p.G303G	UGT2B28_ENST00000511240.1_Silent_p.G303G	NM_053039.1	NP_444267.1	Q9BY64	UDB28_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B28	303					metabolic process (GO:0008152)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	31						GTGAAAATGGTGTTGTGGTGT	0.408																																						ENST00000335568.5																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	31						c.(907-909)ggT>ggC		UDP glucuronosyltransferase 2 family, polypeptide B28	Flunitrazepam(DB01544)						146	164	158					4																	70152508		2065	4249	6314	SO:0001819	synonymous_variant	54490				xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	g.chr4:70152508T>C	AF177272	CCDS3528.1, CCDS56330.1	4q13.3	2011-02-09	2005-07-20		ENSG00000135226	ENSG00000135226		"UDP glucuronosyltransferases"	13479	protein-coding gene	gene with protein product		606497	"UDP glycosyltransferase 2 family, polypeptide B28"			11300766	Standard	NM_053039		Approved		uc003hej.3	Q9BY64	OTTHUMG00000129401	ENST00000335568.5:c.909T>C	4.37:g.70152508T>C						UGT2B28_ENST00000511240.1_Silent_p.G303G	p.G303G	NM_053039.1	NP_444267.1	Q9BY64	UDB28_HUMAN			3	911	+			303					B5BUM0|Q9BY62|Q9BY63	Silent	SNP	ENST00000335568.5	37	c.909T>C	CCDS3528.1																																																																																				0.408	UGT2B28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251557.2	NM_053039		68	164	0	0	0	1	0	68	164					C	70152508	T	C	70152508	2	2	435	1	0	0	0	0	0	0	0	1	16957	1683	59	4		4	UGT2B28	4	70152508	Silent	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	174239	70152508	121001768	2333	23258											
UGT2B4	7363	broad.mit.edu	37	chr4	70361411	70361411	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	agaaatggaagctgaagatgCcaatacagtcacctcatgac	16	7	9	9	0	2	4	2	2	0	2	2	5	2	5	2	1	3	1	2	1	5	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:70361411C>T	ENST00000305107.6	-	1	215	c.169G>A	c.(169-171)Gca>Aca	p.A57T	UGT2B4_ENST00000512583.1_Missense_Mutation_p.A57T|UGT2B4_ENST00000506580.1_5'UTR|UGT2B4_ENST00000381096.3_Intron	NM_021139.2	NP_066962.2	P06133	UD2B4_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B4	57					cellular glucuronidation (GO:0052695)|estrogen catabolic process (GO:0006711)|metabolic process (GO:0008152)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(29)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	47					Canagliflozin(DB08907)|Codeine(DB00318)|Dapagliflozin(DB06292)|Flurbiprofen(DB00712)|Ibuprofen(DB01050)|Morphine(DB00295)	GCTGAAGATGCCAATACAGTC	0.408																																						ENST00000305107.6																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(29)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	47						c.(169-171)Gca>Aca		UDP glucuronosyltransferase 2 family, polypeptide B4							104	108	107					4																	70361411		2201	4300	6501	SO:0001583	missense	7363				estrogen catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	g.chr4:70361411C>T	BC026264	CCDS43234.1, CCDS75137.1	4q13	2008-02-05	2005-07-20			ENSG00000156096		"UDP glucuronosyltransferases"	12553	protein-coding gene	gene with protein product		600067	"UDP glycosyltransferase 2 family, polypeptide B4"			3109396, 7835904	Standard	NM_021139		Approved	UGT2B11	uc003hek.4	P06133		ENST00000305107.6:c.169G>A	4.37:g.70361411C>T	ENSP00000305221:p.Ala57Thr					UGT2B4_ENST00000506580.1_5'UTR|UGT2B4_ENST00000512583.1_Missense_Mutation_p.A57T|UGT2B4_ENST00000381096.3_Intron	p.A57T	NM_021139.2	NP_066962.2	P06133	UD2B4_HUMAN			1	215	-			57					A6NCP7|B4DT75|G5E9X8|O60731|O60867|O75614|P36538|Q1HBF9|Q6QQX7	Missense_Mutation	SNP	ENST00000305107.6	37	c.169G>A	CCDS43234.1	.	.	.	.	.	.	.	.	.	.	C	0.016	-1.531347	0.00951	.	.	ENSG00000156096	ENST00000512583;ENST00000305107	T;T	0.58652	0.32;0.32	2.41	1.21	0.21127	.	0.427258	0.18758	N	0.131963	T	0.27134	0.0665	N	0.05177	-0.1	0.09310	N	1	B;B	0.11235	0.002;0.004	B;B	0.18871	0.002;0.023	T	0.16988	-1.0384	10	0.11182	T	0.66	.	4.3265	0.11043	0.0:0.3689:0.0:0.6311	.	57;57	G5E9X8;P06133	.;UD2B4_HUMAN	T	57	ENSP00000421290:A57T;ENSP00000305221:A57T	ENSP00000305221:A57T	A	-	1	0	UGT2B4	70396000	0.000000	0.05858	0.001000	0.08648	0.024000	0.10985	-0.673000	0.05239	0.190000	0.20209	0.306000	0.20318	GCA		0.408	UGT2B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365526.1	NM_021139		29	53	0	0	0	1	0	29	53					T	70361411	C	T	70361411	3	4	435	1	0	0	0	0	1	0	0	0	16958	739	26	3	1441	3	UGT2B4	4	70361411	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	208903	70361411	120792865	2334	23259											
MUC7	4589	broad.mit.edu	37	chr4	71339748	71339748	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	catcagaaagaatgaaaactCtgccgctgtttgtgtgcatc	12	11	9	9	1	2	3	1	1	1	2	3	3	2	3	1	0	3	3	1	0	4	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:71339748C>T	ENST00000304887.5	+	2	200	c.10C>T	c.(10-12)Ctg>Ttg	p.L4L	MUC7_ENST00000413702.1_Silent_p.L4L|MUC7_ENST00000514512.1_Intron|MUC7_ENST00000456088.1_Silent_p.L4L	NM_152291.2	NP_689504.2	Q8TAX7	MUC7_HUMAN	mucin 7, secreted	4					cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(2)|lung(23)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42			Lung(101;0.211)			AATGAAAACTCTGCCGCTGTT	0.373																																						ENST00000413702.1																			0				central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(2)|lung(23)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						c.(10-12)Ctg>Ttg		mucin 7, secreted							126	123	124					4																	71339748		2203	4300	6503	SO:0001819	synonymous_variant	4589					extracellular region	protein binding	g.chr4:71339748C>T	BC025688	CCDS3541.1	4q13.3	2008-02-05	2006-03-14		ENSG00000171195	ENSG00000171195		"Mucins"	7518	protein-coding gene	gene with protein product		158375	"mucin 7, salivary"			8838308	Standard	NM_152291		Approved	FLJ27047, MG2	uc003hfj.3	Q8TAX7	OTTHUMG00000129916	ENST00000304887.5:c.10C>T	4.37:g.71339748C>T						MUC7_ENST00000304887.5_Silent_p.L4L|MUC7_ENST00000514512.1_Intron|MUC7_ENST00000456088.1_Silent_p.L4L	p.L4L	NM_001145006.1	NP_001138478.1	Q8TAX7	MUC7_HUMAN	Lung(101;0.211)		3	298	+			4					Q9UCD7|Q9UCD8	Silent	SNP	ENST00000304887.5	37	c.10C>T	CCDS3541.1																																																																																				0.373	MUC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252168.2	NM_152291		9	44	0	0	0	1	0	9	44					T	71339748	C	T	71339748	2	4	435	1	0	0	0	0	0	0	0	1	9981	912	32	3		3	MUC7	4	71339748	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	978337	71339748	119814528	2335	23260											
GRSF1	2926	broad.mit.edu	37	chr4	71693681	71693681	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttagcagtaggaaaagatgcGattttctttcccttataaga	13	14	8	6	1	1	2	0	0	1	2	2	4	2	3	1	1	2	2	1	1	6	7			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:71693681G>A	ENST00000254799.6	-	6	1140	c.1023C>T	c.(1021-1023)atC>atT	p.I341I	GRSF1_ENST00000545193.1_Silent_p.I223I|GRSF1_ENST00000439371.1_Silent_p.I179I|GRSF1_ENST00000502323.1_Silent_p.I179I|GRSF1_ENST00000508091.1_Intron	NM_002092.3	NP_002083	Q12849	GRSF1_HUMAN	G-rich RNA sequence binding factor 1	341					anterior/posterior pattern specification (GO:0009952)|morphogenesis of embryonic epithelium (GO:0016331)|mRNA polyadenylation (GO:0006378)|tRNA processing (GO:0008033)	cytoplasm (GO:0005737)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|upper_aerodigestive_tract(2)	17		all_hematologic(202;0.21)	Lung(101;0.235)			GAAAAGATGCGATTTTCTTTC	0.373																																						ENST00000254799.6																			0				breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|upper_aerodigestive_tract(2)	17						c.(1021-1023)atC>atT		G-rich RNA sequence binding factor 1							182	174	177					4																	71693681		1856	4099	5955	SO:0001819	synonymous_variant	2926				mRNA polyadenylation		mRNA binding|nucleotide binding	g.chr4:71693681G>A	BC040485	CCDS47069.1, CCDS47070.1	4q13	2013-07-16				ENSG00000132463		"RNA binding motif (RRM) containing"	4610	protein-coding gene	gene with protein product		604851				8036161	Standard	NM_001098477		Approved		uc010iia.1	Q12849		ENST00000254799.6:c.1023C>T	4.37:g.71693681G>A						GRSF1_ENST00000508091.1_Intron|GRSF1_ENST00000502323.1_Silent_p.I179I|GRSF1_ENST00000439371.1_Silent_p.I179I|GRSF1_ENST00000545193.1_Silent_p.I223I	p.I341I	NM_002092.3	NP_002083.3	Q12849	GRSF1_HUMAN	Lung(101;0.235)		6	1140	-		all_hematologic(202;0.21)	341					B3KPW0|Q4W5S5|Q6ZST3|Q8IWD6|Q8NBD2	Silent	SNP	ENST00000254799.6	37	c.1023C>T	CCDS47069.1	.	.	.	.	.	.	.	.	.	.	G	14.37	2.515583	0.44763	.	.	ENSG00000132463	ENST00000514161	.	.	.	5.77	1.01	0.19927	.	.	.	.	.	T	0.57784	0.2077	.	.	.	0.58432	D	0.999998	.	.	.	.	.	.	T	0.55198	-0.8178	5	0.87932	D	0	-4.8463	3.6815	0.08312	0.2329:0.5213:0.1158:0.1301	.	.	.	.	L	278	.	ENSP00000427644:S106L	S	-	2	0	GRSF1	71912545	0.000000	0.05858	0.959000	0.39883	0.873000	0.50193	-0.612000	0.05616	-0.060000	0.13132	-1.134000	0.01955	TCG		0.373	GRSF1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362642.1	NM_002092		4	76	0	0	0	1	0	4	76					A	71693681	G	A	71693681	2	1	435	1	0	0	0	0	0	0	0	1	6809	1048	37	2		2	GRSF1	4	71693681	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	353933	71693681	119460595	2336	23261											
SLC4A4	8671	broad.mit.edu	37	chr4	72352686	72352686	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taatatctcaatatctaatgAcaccacactggccccagagt	14	10	5	12	0	2	2	1	1	2	1	3	2	2	2	3	1	0	0	3	1	5	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:72352686A>G	ENST00000264485.5	+	15	2042	c.1925A>G	c.(1924-1926)gAc>gGc	p.D642G	SLC4A4_ENST00000340595.3_Missense_Mutation_p.D598G|SLC4A4_ENST00000425175.1_Missense_Mutation_p.D642G|SLC4A4_ENST00000351898.6_Missense_Mutation_p.D642G	NM_001098484.2	NP_001091954.1	Q9Y6R1	S4A4_HUMAN	solute carrier family 4 (sodium bicarbonate cotransporter), member 4	642					bicarbonate transport (GO:0015701)|ion transport (GO:0006811)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|sodium:bicarbonate symporter activity (GO:0008510)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	58			Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)		Sodium bicarbonate(DB01390)	ATATCTAATGACACCACACTG	0.289																																						ENST00000340595.3																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	58						c.(1792-1794)gAc>gGc		solute carrier family 4 (sodium bicarbonate cotransporter), member 4							79	73	75					4																	72352686		2202	4297	6499	SO:0001583	missense	8671					basolateral plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity	g.chr4:72352686A>G	AF007216	CCDS3549.1, CCDS43236.1, CCDS47071.1	4q13.3	2013-07-19	2013-07-19		ENSG00000080493	ENSG00000080493		"Solute carriers"	11030	protein-coding gene	gene with protein product		603345	"solute carrier family 4, sodium bicarbonate cotransporter, member 4"	SLC4A5		9235899, 9651366	Standard	NM_001098484		Approved	NBC1, HNBC1, NBC2, pNBC, hhNMC	uc010iic.3	Q9Y6R1	OTTHUMG00000129907	ENST00000264485.5:c.1925A>G	4.37:g.72352686A>G	ENSP00000264485:p.Asp642Gly					SLC4A4_ENST00000351898.6_Missense_Mutation_p.D642G|SLC4A4_ENST00000264485.5_Missense_Mutation_p.D642G|SLC4A4_ENST00000425175.1_Missense_Mutation_p.D642G	p.D598G	NM_003759.3	NP_003750.1	Q9Y6R1	S4A4_HUMAN	Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)		12	1989	+			642					C4B714|O15153|Q8NEJ2|Q9H262|Q9NRZ1|Q9UIC0|Q9UIC1|Q9UP50	Missense_Mutation	SNP	ENST00000264485.5	37	c.1793A>G	CCDS43236.1	.	.	.	.	.	.	.	.	.	.	A	3.519	-0.098147	0.07010	.	.	ENSG00000080493	ENST00000264485;ENST00000425175;ENST00000351898;ENST00000340595	T;T;T;T	0.78816	-1.21;-1.21;-1.21;-1.21	5.55	3.07	0.35406	Bicarbonate transporter, C-terminal (1);	1.340640	0.04068	N	0.307549	T	0.61502	0.2352	N	0.14661	0.345	0.30595	N	0.761144	B;B;B;B	0.33826	0.0;0.427;0.0;0.0	B;B;B;B	0.34138	0.001;0.176;0.003;0.0	T	0.56848	-0.7911	10	0.20519	T	0.43	.	3.8626	0.09002	0.6814:0.0:0.1636:0.155	.	642;642;598;642	A5JJ20;Q9Y6R1-4;Q9Y6R1-2;Q9Y6R1	.;.;.;S4A4_HUMAN	G	642;642;642;598	ENSP00000264485:D642G;ENSP00000393557:D642G;ENSP00000307349:D642G;ENSP00000344272:D598G	ENSP00000264485:D642G	D	+	2	0	SLC4A4	72571550	0.470000	0.25854	0.695000	0.30226	0.149000	0.21700	0.669000	0.25142	0.507000	0.28148	-0.336000	0.08194	GAC		0.289	SLC4A4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362090.1	NM_003759		38	86	0	0	0	1	0	38	86					G	72352686	A	G	72352686	3	3	435	1	0	0	0	0	1	0	0	0	14656	275	10	4	2100	4	SLC4A4	4	72352686	Missense_Mutation	SNP	A	TCGA-XK-AAIW-01A-11D-A41K-08	659005	72352686	118801590	2337	23262											
ADAMTS3	9508	broad.mit.edu	37	chr4	73169736	73169736	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaagatctatgaaggtccgCgacttggcttcctccccttt	7	12	8	14	2	1	2	0	1	1	1	4	3	4	2	5	2	0	1	5	2	3	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:73169736C>T	ENST00000286657.4	-	17	2358	c.2322G>A	c.(2320-2322)tcG>tcA	p.S774S		NM_014243.2	NP_055058.2	O15072	ATS3_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 3	774	Spacer.				collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular fibril organization (GO:0043206)|extracellular matrix organization (GO:0030198)|positive regulation of vascular endothelial growth factor signaling pathway (GO:1900748)|protein processing (GO:0016485)|vascular endothelial growth factor production (GO:0010573)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	endopeptidase activity (GO:0004175)|heparin binding (GO:0008201)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	76			Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			TGAAGGTCCGCGACTTGGCTT	0.393																																					NSCLC(168;1941 2048 2918 13048 43078)	ENST00000286657.4																			0				NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	76						c.(2320-2322)tcG>tcA		ADAM metallopeptidase with thrombospondin type 1 motif, 3							205	204	204					4																	73169736		2203	4300	6503	SO:0001819	synonymous_variant	9508				collagen catabolic process|collagen fibril organization|proteolysis	proteinaceous extracellular matrix	heparin binding|metalloendopeptidase activity|zinc ion binding	g.chr4:73169736C>T	AB002364	CCDS3553.1	4q21	2008-07-29	2005-08-19		ENSG00000156140	ENSG00000156140	3.4.24.-	"ADAM metallopeptidases with thrombospondin type 1 motif"	219	protein-coding gene	gene with protein product		605011	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 3"			10094461	Standard	NM_014243		Approved	KIAA0366, ADAMTS-4	uc003hgk.2	O15072	OTTHUMG00000129912	ENST00000286657.4:c.2322G>A	4.37:g.73169736C>T							p.S774S	NM_014243.2	NP_055058.2	O15072	ATS3_HUMAN	Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		17	2358	-			774			Spacer.		A1L3U9|Q9BXZ8	Silent	SNP	ENST00000286657.4	37	c.2322G>A	CCDS3553.1																																																																																				0.393	ADAMTS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252164.2			61	86	0	0	0	1	0	61	86					T	73169736	C	T	73169736	2	4	435	1	0	0	0	0	0	0	0	1	267	755	27	1		1	ADAMTS3	4	73169736	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	817050	73169736	117984540	2338	23263											
ANKRD17	26057	broad.mit.edu	37	chr4	74019646	74019646	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tctttaaattcattagaatgCgtattaatgccagccccatt	12	15	5	9	1	2	1	1	0	1	1	2	1	2	1	3	0	3	1	3	0	6	7	rs377567587		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:74019646C>T	ENST00000358602.4	-	6	1301	c.1185G>A	c.(1183-1185)acG>acA	p.T395T	ANKRD17_ENST00000509867.2_Silent_p.T282T|ANKRD17_ENST00000330838.6_Silent_p.T395T|ANKRD17_ENST00000514252.1_5'UTR	NM_032217.3	NP_115593.3	O75179	ANR17_HUMAN	ankyrin repeat domain 17	395					blood vessel maturation (GO:0001955)|negative regulation of smooth muscle cell differentiation (GO:0051151)|viral process (GO:0016032)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)	96	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			CATTAGAATGCGTATTAATGC	0.363																																						ENST00000358602.4																			0				NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)	96						c.(1183-1185)acG>acA		ankyrin repeat domain 17		C	,	0,4406		0,0,2203	112	107	109		1185,1185	0.7	1	4		109	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous,coding-synonymous	ANKRD17	NM_032217.3,NM_198889.1	,	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	,	395/2604,395/2353	74019646	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	26057				interspecies interaction between organisms	cytoplasm|nucleus	RNA binding	g.chr4:74019646C>T	AB014597	CCDS34003.1, CCDS34004.1, CCDS68721.1	4q21.1-q21.21	2013-01-10			ENSG00000132466	ENSG00000132466		"Ankyrin repeat domain containing"	23575	protein-coding gene	gene with protein product		615929				11165478	Standard	NM_032217		Approved	GTAR, KIAA0697, FLJ22206, NY-BR-16	uc003hgp.3	O75179	OTTHUMG00000160826	ENST00000358602.4:c.1185G>A	4.37:g.74019646C>T						ANKRD17_ENST00000330838.6_Silent_p.T395T|ANKRD17_ENST00000514252.1_5'UTR|ANKRD17_ENST00000509867.2_Silent_p.T282T	p.T395T	NM_032217.3	NP_115593.3	O75179	ANR17_HUMAN	Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		6	1301	-	Breast(15;0.000295)		395					E7EUV3|G5E964|Q6PJ85|Q6PK85|Q6PKA2|Q86XI3|Q8NDR5|Q96I86|Q9H288|Q9H6J9	Silent	SNP	ENST00000358602.4	37	c.1185G>A	CCDS34004.1																																																																																				0.363	ANKRD17-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000362475.1	NM_032217		44	50	0	0	0	1	0	44	50					T	74019646	C	T	74019646	2	4	435	1	0	0	0	0	0	0	0	1	646	755	27	1		1	ANKRD17	4	74019646	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	849910	74019646	117134630	2339	23264											
AFM	173	broad.mit.edu	37	chr4	74364910	74364910	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttggcgagaaaatggtgacaGctttcactacttgctgtacg	10	12	11	8	2	1	2	1	1	0	1	1	3	1	2	0	2	4	3	0	2	4	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:74364910G>T	ENST00000226355.3	+	11	1462	c.1369G>T	c.(1369-1371)Gct>Tct	p.A457S		NM_001133.2	NP_001124.1	P43652	AFAM_HUMAN	afamin	457	Albumin 3. {ECO:0000255|PROSITE- ProRule:PRU00769}.				vitamin transport (GO:0051180)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	vitamin E binding (GO:0008431)			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	Breast(15;0.00102)		Epithelial(6;5.69e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|all cancers(17;0.000555)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			AATGGTGACAGCTTTCACTAC	0.418																																						ENST00000226355.3																			0				breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32						c.(1369-1371)Gct>Tct		afamin							163	141	149					4																	74364910		2203	4300	6503	SO:0001583	missense	173				vitamin transport		vitamin E binding	g.chr4:74364910G>T	L32140	CCDS3557.1	4q13.3	2008-06-11			ENSG00000079557	ENSG00000079557			316	protein-coding gene	gene with protein product		104145				7517938	Standard	NM_001133		Approved	ALB2, ALBA	uc003hhb.3	P43652	OTTHUMG00000130004	ENST00000226355.3:c.1369G>T	4.37:g.74364910G>T	ENSP00000226355:p.Ala457Ser						p.A457S	NM_001133.2	NP_001124.1	P43652	AFAM_HUMAN	Epithelial(6;5.69e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|all cancers(17;0.000555)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		11	1462	+	Breast(15;0.00102)		457			Albumin 3.		A8K3E1|Q32MR3|Q4W5C5	Missense_Mutation	SNP	ENST00000226355.3	37	c.1369G>T	CCDS3557.1	.	.	.	.	.	.	.	.	.	.	G	2.186	-0.386313	0.04966	.	.	ENSG00000079557	ENST00000226355	T	0.73789	-0.78	5.34	3.41	0.39046	Serum albumin-like (1);Serum albumin, N-terminal (3);	0.768354	0.12248	N	0.485908	T	0.67011	0.2848	L	0.55834	1.745	0.09310	N	1	B	0.22983	0.078	B	0.21360	0.034	T	0.56926	-0.7898	10	0.39692	T	0.17	.	7.5823	0.27972	0.0936:0.0:0.7325:0.1739	.	457	P43652	AFAM_HUMAN	S	457	ENSP00000226355:A457S	ENSP00000226355:A457S	A	+	1	0	AFM	74583774	0.008000	0.16893	0.006000	0.13384	0.012000	0.07955	1.806000	0.38892	1.256000	0.44068	0.655000	0.94253	GCT		0.418	AFM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252275.2			19	29	1	0	9.7654e-05	1	0.000100207	19	29					T	74364910	G	T	74364910	3	4	435	1	0	0	0	0	1	0	0	0	361	971	34	5	1411	5	AFM	4	74364910	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	345264	74364910	116789366	2340	23265											
PARM1	25849	broad.mit.edu	37	chr4	75937973	75937973	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cgttggaggaacacagctcgGgcactcctgaagcaggcgtg	9	6	15	11	3	0	1	0	1	0	0	2	3	1	3	1	4	3	4	1	4	2	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:75937973G>A	ENST00000307428.7	+	2	594	c.382G>A	c.(382-384)Ggc>Agc	p.G128S	RP11-44F21.2_ENST00000513770.1_RNA|PARM1_ENST00000513238.1_Intron	NM_015393.3	NP_056208.2	Q6UWI2	PARM1_HUMAN	prostate androgen-regulated mucin-like protein 1	128					positive regulation of telomerase activity (GO:0051973)	early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|plasma membrane (GO:0005886)				cervix(1)|endometrium(2)|lung(4)|ovary(1)	8						ACACAGCTCGGGCACTCCTGA	0.577																																						ENST00000307428.7																			0				cervix(1)|endometrium(2)|lung(4)|ovary(1)	8						c.(382-384)Ggc>Agc		prostate androgen-regulated mucin-like protein 1							139	146	144					4																	75937973		2126	4233	6359	SO:0001583	missense	25849				positive regulation of telomerase activity	early endosome|endosome membrane|Golgi membrane|integral to membrane|late endosome|plasma membrane		g.chr4:75937973G>A	AK022311	CCDS47077.1	4q13.3-q21.3	2010-02-17	2009-09-28		ENSG00000169116	ENSG00000169116			24536	protein-coding gene	gene with protein product	"Prostatic androgen-repressed message 1", "Castration-induced prostatic apoptosis-related protein 1", "WSC4, cell wall integrity and stress response component 4 homolog (S. cerevisiae)"					10499539, 12772192, 18027867	Standard	NM_015393		Approved	DKFZP564O0823, Cipar1, WSC4	uc003hih.2	Q6UWI2	OTTHUMG00000160827	ENST00000307428.7:c.382G>A	4.37:g.75937973G>A	ENSP00000370224:p.Gly128Ser					PARM1_ENST00000513238.1_Intron|RP11-44F21.2_ENST00000513770.1_RNA	p.G128S	NM_015393.3	NP_056208.2	Q6UWI2	PARM1_HUMAN			2	594	+			128					B3KMQ9|Q96DV8|Q9Y4S1	Missense_Mutation	SNP	ENST00000307428.7	37	c.382G>A	CCDS47077.1	.	.	.	.	.	.	.	.	.	.	G	13.16	2.155125	0.38021	.	.	ENSG00000169116	ENST00000307428	T	0.44083	0.93	5.34	0.518	0.17030	.	1.269630	0.05151	N	0.496109	T	0.29126	0.0724	L	0.29908	0.895	0.09310	N	1	B	0.19331	0.035	B	0.23275	0.045	T	0.19778	-1.0295	10	0.23302	T	0.38	-1.265	4.2355	0.10623	0.3421:0.0:0.5085:0.1493	.	128	Q6UWI2	PARM1_HUMAN	S	128	ENSP00000370224:G128S	ENSP00000370224:G128S	G	+	1	0	PARM1	76156997	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.846000	0.04336	-0.003000	0.14444	-0.309000	0.09137	GGC		0.577	PARM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362494.1	NM_015393		23	37	0	0	0	1	0	23	37					A	75937973	G	A	75937973	3	1	435	1	0	0	0	0	1	0	0	0	11452	1232	43	3	388	3	PARM1	4	75937973	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	1573063	75937973	115216303	2341	23266											
PARM1	25849	broad.mit.edu	37	chr4	75938008	75938008	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggcgtggcagctacactgtcGcagtccgctgctgagcctcc	5	8	13	15	3	0	1	0	1	0	0	3	1	2	1	3	2	4	5	3	2	1	1	rs555343310	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:75938008G>A	ENST00000307428.7	+	2	629	c.417G>A	c.(415-417)tcG>tcA	p.S139S	RP11-44F21.2_ENST00000513770.1_RNA|PARM1_ENST00000513238.1_Intron	NM_015393.3	NP_056208.2	Q6UWI2	PARM1_HUMAN	prostate androgen-regulated mucin-like protein 1	139					positive regulation of telomerase activity (GO:0051973)	early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|plasma membrane (GO:0005886)				cervix(1)|endometrium(2)|lung(4)|ovary(1)	8						CTACACTGTCGCAGTCCGCTG	0.582													g|||	2	0.000399361	0	0	5008	,	,		19152	0		0	False		,,,				2504	0.002					ENST00000307428.7																			0				cervix(1)|endometrium(2)|lung(4)|ovary(1)	8						c.(415-417)tcG>tcA		prostate androgen-regulated mucin-like protein 1							135	149	144					4																	75938008		2129	4242	6371	SO:0001819	synonymous_variant	25849				positive regulation of telomerase activity	early endosome|endosome membrane|Golgi membrane|integral to membrane|late endosome|plasma membrane		g.chr4:75938008G>A	AK022311	CCDS47077.1	4q13.3-q21.3	2010-02-17	2009-09-28		ENSG00000169116	ENSG00000169116			24536	protein-coding gene	gene with protein product	"Prostatic androgen-repressed message 1", "Castration-induced prostatic apoptosis-related protein 1", "WSC4, cell wall integrity and stress response component 4 homolog (S. cerevisiae)"					10499539, 12772192, 18027867	Standard	NM_015393		Approved	DKFZP564O0823, Cipar1, WSC4	uc003hih.2	Q6UWI2	OTTHUMG00000160827	ENST00000307428.7:c.417G>A	4.37:g.75938008G>A						PARM1_ENST00000513238.1_Intron|RP11-44F21.2_ENST00000513770.1_RNA	p.S139S	NM_015393.3	NP_056208.2	Q6UWI2	PARM1_HUMAN			2	629	+			139					B3KMQ9|Q96DV8|Q9Y4S1	Silent	SNP	ENST00000307428.7	37	c.417G>A	CCDS47077.1																																																																																				0.582	PARM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362494.1	NM_015393		29	55	0	0	0	1	0	29	55					A	75938008	G	A	75938008	2	1	435	1	0	0	0	0	0	0	0	1	11452	1074	38	1		1	PARM1	4	75938008	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	35	75938008	115216268	2342	23267											
RCHY1	25898	broad.mit.edu	37	chr4	76434475	76434475	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cattgttatcatgacacaagCggcaagtataaagcttgtca	14	11	8	8	1	2	1	2	1	0	0	2	1	2	1	0	1	2	4	0	1	6	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:76434475C>T	ENST00000324439.5	-	2	520	c.122G>A	c.(121-123)cGc>cAc	p.R41H	RCHY1_ENST00000513257.1_Missense_Mutation_p.R41H|RCHY1_ENST00000380840.2_Intron|RCHY1_ENST00000512706.1_Missense_Mutation_p.R19H|RCHY1_ENST00000451788.1_Missense_Mutation_p.R41H|RCHY1_ENST00000514021.1_5'UTR	NM_001278536.1|NM_001278538.1|NM_001278539.1	NP_001265465.1|NP_001265467.1|NP_001265468.1	Q96PM5	ZN363_HUMAN	ring finger and CHY zinc finger domain containing 1, E3 ubiquitin protein ligase	41					positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein ubiquitination (GO:0031398)|protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	ligase activity (GO:0016874)|p53 binding (GO:0002039)|protein homodimerization activity (GO:0042803)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			large_intestine(2)|pancreas(1)	3			Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122)			ATGACACAAGCGGCAAGTATA	0.353																																						ENST00000324439.5																			0				large_intestine(2)|pancreas(1)	3						c.(121-123)cGc>cAc		ring finger and CHY zinc finger domain containing 1, E3 ubiquitin protein ligase							60	55	57					4																	76434475		2203	4299	6502	SO:0001583	missense	25898				positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein autoubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nuclear speck|ubiquitin ligase complex	electron carrier activity|p53 binding|protein homodimerization activity|ubiquitin-protein ligase activity|zinc ion binding	g.chr4:76434475C>T	AF255666	CCDS3567.1, CCDS34012.1, CCDS63990.1, CCDS63991.1, CCDS63992.1	4q21.1-q21.3	2014-02-17	2012-02-23	2004-03-30	ENSG00000163743	ENSG00000163743		"RING-type (C3HC4) zinc fingers"	17479	protein-coding gene	gene with protein product	"androgen-receptor N-terminal-interacting protein", "p53-induced protein with a RING-H2 domain", "zinc finger, CHY-type"	607680	"zinc finger protein 363", "ring finger and CHY zinc finger domain containing 1"	ZNF363		12654245	Standard	NM_015436		Approved	CHIMP, DKFZp586C1620, PRO1996, RNF199, ARNIP, PIRH2, ZCHY	uc003hik.3	Q96PM5	OTTHUMG00000130105	ENST00000324439.5:c.122G>A	4.37:g.76434475C>T	ENSP00000321239:p.Arg41His					RCHY1_ENST00000451788.1_Missense_Mutation_p.R41H|RCHY1_ENST00000514021.1_5'UTR|RCHY1_ENST00000513257.1_Missense_Mutation_p.R41H|RCHY1_ENST00000380840.2_Intron|RCHY1_ENST00000512706.1_Missense_Mutation_p.R19H	p.R41H	NM_001278536.1|NM_001278538.1|NM_001278539.1	NP_001265465.1|NP_001265467.1|NP_001265468.1	Q96PM5	ZN363_HUMAN	Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122)		2	520	-			41					B3KRG3|C7E541|C7E542|C7E543|D3YRV2|E7EMC8|E7ETW5|J3KPI0|Q2KN33|Q59GN7|Q86X26|Q96PR5	Missense_Mutation	SNP	ENST00000324439.5	37	c.122G>A	CCDS3567.1	.	.	.	.	.	.	.	.	.	.	C	34	5.293162	0.95546	.	.	ENSG00000163743	ENST00000324439;ENST00000451788;ENST00000512706;ENST00000513257	T;T	0.39229	1.2;1.09	5.7	5.7	0.88788	Zinc finger, CHY-type (2);	0.000000	0.85682	D	0.000000	T	0.66177	0.2763	M	0.74881	2.28	0.58432	D	0.999999	D;D;D;D	0.89917	0.998;0.994;1.0;1.0	D;P;D;D	0.85130	0.937;0.796;0.997;0.996	T	0.68014	-0.5521	10	0.66056	D	0.02	-24.4167	17.3381	0.87288	0.0:1.0:0.0:0.0	.	41;41;41;41	Q2KN33;Q96PM5-2;Q96PM5;G3FDP4	.;.;ZN363_HUMAN;.	H	41;41;19;41	ENSP00000321239:R41H;ENSP00000423976:R19H	ENSP00000321239:R41H	R	-	2	0	RCHY1	76653499	1.000000	0.71417	0.989000	0.46669	0.944000	0.59088	6.606000	0.74159	2.681000	0.91329	0.650000	0.86243	CGC		0.353	RCHY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252411.2	NM_015436		8	12	0	0	0	1	0	8	12					T	76434475	C	T	76434475	3	4	435	1	0	0	0	0	1	0	0	0	13177	768	27	1	695	1	RCHY1	4	76434475	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	496467	76434475	114719801	2343	23268											
CDKL2	8999	broad.mit.edu	37	chr4	76523296	76523296	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttctttcttcaactaaggAatcatctttttctttttcct	7	23	2	9	0	6	0	2	0	4	0	7	1	7	1	1	1	1	0	1	1	3	9			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:76523296A>G	ENST00000429927.2	-	8	1688	c.985T>C	c.(985-987)Tcc>Ccc	p.S329P	CDKL2_ENST00000307465.4_Missense_Mutation_p.S329P	NM_003948.3	NP_003939.1	Q92772	CDKL2_HUMAN	cyclin-dependent kinase-like 2 (CDC2-related kinase)	329					sex differentiation (GO:0007548)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672)			breast(3)|endometrium(1)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(2)|stomach(2)	22			Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122)			TCAACTAAGGAATCATCTTTT	0.264																																						ENST00000429927.2																			0				breast(3)|endometrium(1)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(2)|stomach(2)	22						c.(985-987)Tcc>Ccc		cyclin-dependent kinase-like 2 (CDC2-related kinase)							38	38	38					4																	76523296		2198	4274	6472	SO:0001583	missense	8999				sex differentiation|signal transduction	cytoplasm|nucleus	ATP binding|cyclin-dependent protein kinase activity	g.chr4:76523296A>G	U35146	CCDS3570.1	4q21.21	2011-11-04			ENSG00000138769	ENSG00000138769		"Cyclin-dependent kinases"	1782	protein-coding gene	gene with protein product		603442				9000130	Standard	NM_003948		Approved	P56, KKIAMRE	uc003hiq.3	Q92772	OTTHUMG00000130103	ENST00000429927.2:c.985T>C	4.37:g.76523296A>G	ENSP00000412365:p.Ser329Pro					CDKL2_ENST00000307465.4_Missense_Mutation_p.S329P	p.S329P	NM_003948.3	NP_003939.1	Q92772	CDKL2_HUMAN	Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122)		8	1688	-			329					B2R695	Missense_Mutation	SNP	ENST00000429927.2	37	c.985T>C	CCDS3570.1	.	.	.	.	.	.	.	.	.	.	A	13.09	2.132393	0.37630	.	.	ENSG00000138769	ENST00000429927;ENST00000307465	T;T	0.71934	-0.58;-0.61	4.18	2.96	0.34315	.	.	.	.	.	T	0.56819	0.2011	L	0.27053	0.805	0.22996	N	0.998451	B;B	0.29232	0.167;0.238	B;B	0.31245	0.063;0.126	T	0.47509	-0.9112	9	0.38643	T	0.18	-4.0502	8.9175	0.35590	0.8024:0.1976:0.0:0.0	.	329;329	B4DH08;Q92772	.;CDKL2_HUMAN	P	329	ENSP00000412365:S329P;ENSP00000306340:S329P	ENSP00000306340:S329P	S	-	1	0	CDKL2	76742320	0.004000	0.15560	0.974000	0.42286	0.918000	0.54935	0.144000	0.16135	0.723000	0.32274	0.460000	0.39030	TCC		0.264	CDKL2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000252409.2	NM_003948		10	30	0	0	0	1	0	10	30					G	76523296	A	G	76523296	3	3	435	1	0	0	0	0	1	0	0	0	3154	246	9	4	512	4	CDKL2	4	76523296	Missense_Mutation	SNP	A	TCGA-XK-AAIW-01A-11D-A41K-08	88821	76523296	114630980	2344	23269											
G3BP2	9908	broad.mit.edu	37	chr4	76570792	76570792	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cattgcgcctaatatccctgCgatcatcaccaccacctctg	9	10	5	17	2	3	0	2	0	1	0	4	1	4	0	5	0	2	0	5	0	2	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:76570792C>T	ENST00000359707.4	-	12	2056	c.1271G>A	c.(1270-1272)cGc>cAc	p.R424H	G3BP2_ENST00000395719.3_Missense_Mutation_p.R424H|G3BP2_ENST00000357854.3_Missense_Mutation_p.R391H	NM_203505.2	NP_987101.1	Q9UN86	G3BP2_HUMAN	GTPase activating protein (SH3 domain) binding protein 2	424	Gly-rich.				cytoplasmic sequestering of NF-kappaB (GO:0007253)|mRNA transport (GO:0051028)|Ras protein signal transduction (GO:0007265)	cytoplasm (GO:0005737)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|receptor signaling complex scaffold activity (GO:0030159)			breast(3)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	27			Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122)			AATATCCCTGCGATCATCACC	0.498																																						ENST00000359707.4																			0				breast(3)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	27						c.(1270-1272)cGc>cAc		GTPase activating protein (SH3 domain) binding protein 2							272	212	232					4																	76570792		2203	4300	6503	SO:0001583	missense	9908				cytoplasmic sequestering of NF-kappaB|mRNA transport|Ras protein signal transduction|regulation of small GTPase mediated signal transduction	cytosol	GTPase activator activity|nucleotide binding|receptor signaling complex scaffold activity|RNA binding	g.chr4:76570792C>T	AB014560	CCDS3571.1, CCDS3572.1	4q21.1	2013-02-12	2006-11-01		ENSG00000138757	ENSG00000138757		"RNA binding motif (RRM) containing"	30291	protein-coding gene	gene with protein product	"Ras-GTPase activating protein SH3 domain-binding protein 2"					9734811, 9575347	Standard	NM_203504		Approved	KIAA0660	uc003his.3	Q9UN86	OTTHUMG00000130097	ENST00000359707.4:c.1271G>A	4.37:g.76570792C>T	ENSP00000352738:p.Arg424His					G3BP2_ENST00000395719.3_Missense_Mutation_p.R424H|G3BP2_ENST00000357854.3_Missense_Mutation_p.R391H	p.R424H	NM_203505.2	NP_987101.1	Q9UN86	G3BP2_HUMAN	Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122)		12	2056	-			424			Gly-rich.		A8K6X1|O60606|O75149|Q9UPA1	Missense_Mutation	SNP	ENST00000359707.4	37	c.1271G>A	CCDS3571.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.329933	0.81690	.	.	ENSG00000138757	ENST00000395719;ENST00000359707;ENST00000357854	T;T;T	0.75154	-0.91;-0.91;-0.91	6.17	6.17	0.99709	.	0.043515	0.85682	D	0.000000	T	0.82075	0.4958	L	0.46157	1.445	0.80722	D	1	D;D	0.71674	0.994;0.998	P;D	0.72075	0.725;0.976	T	0.73630	-0.3922	10	0.12103	T	0.63	-8.4454	20.8794	0.99867	0.0:1.0:0.0:0.0	.	391;424	Q9UN86-2;Q9UN86	.;G3BP2_HUMAN	H	424;424;391	ENSP00000379069:R424H;ENSP00000352738:R424H;ENSP00000350518:R391H	ENSP00000350518:R391H	R	-	2	0	G3BP2	76789816	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.395000	0.79876	2.941000	0.99782	0.655000	0.94253	CGC		0.498	G3BP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252399.2	NM_012297		32	22	0	0	0	1	0	32	22					T	76570792	C	T	76570792	3	4	435	1	0	0	0	0	1	0	0	0	6142	768	27	1	181	1	G3BP2	4	76570792	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	47496	76570792	114583484	2345	23270											
PPEF2	5470	broad.mit.edu	37	chr4	76805865	76805865	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaatccttgcctcgatccaCaaagtcaccgttgaacacat	12	10	6	13	2	1	2	1	2	0	0	4	3	3	2	4	0	2	1	4	0	3	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:76805865C>T	ENST00000286719.7	-	8	984	c.628G>A	c.(628-630)Gtg>Atg	p.V210M		NM_006239.2	NP_006230.2	O14830	PPE2_HUMAN	protein phosphatase, EF-hand calcium binding domain 2	210	Catalytic.				detection of stimulus involved in sensory perception (GO:0050906)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|protein dephosphorylation (GO:0006470)|regulation of JUN kinase activity (GO:0043506)|regulation of MAP kinase activity (GO:0043405)|visual perception (GO:0007601)	cilium (GO:0005929)|cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|Hsp70 protein binding (GO:0030544)|Hsp90 protein binding (GO:0051879)|iron ion binding (GO:0005506)|manganese ion binding (GO:0030145)|mitogen-activated protein kinase kinase kinase binding (GO:0031435)|protein serine/threonine phosphatase activity (GO:0004722)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	50			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			CCTCGATCCACAAAGTCACCG	0.453																																					NSCLC(105;1359 1603 15961 44567 47947)	ENST00000286719.7																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	50						c.(628-630)Gtg>Atg		protein phosphatase, EF-hand calcium binding domain 2							217	202	207					4																	76805865		2203	4300	6503	SO:0001583	missense	5470				detection of stimulus involved in sensory perception|negative regulation of MAPKKK cascade|negative regulation of peptidyl-threonine phosphorylation|protein dephosphorylation|visual perception	cytoplasm|photoreceptor inner segment|photoreceptor outer segment	calcium ion binding|Hsp70 protein binding|Hsp90 protein binding|iron ion binding|manganese ion binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine phosphatase activity	g.chr4:76805865C>T	AF023456	CCDS34013.1	4q21.1	2013-01-10			ENSG00000156194	ENSG00000156194		"Serine/threonine phosphatases / Protein phosphatase, catalytic subunits", "EF-hand domain containing"	9244	protein-coding gene	gene with protein product	"protein phosphatase 7, catalytic subunit, beta isozyme"	602256				9326663, 12051765	Standard	NM_006239		Approved	PPP7CB	uc003hix.3	O14830	OTTHUMG00000160915	ENST00000286719.7:c.628G>A	4.37:g.76805865C>T	ENSP00000286719:p.Val210Met						p.V210M	NM_006239.2	NP_006230.2	O14830	PPE2_HUMAN	Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)		8	984	-			210			Catalytic.		O14831	Missense_Mutation	SNP	ENST00000286719.7	37	c.628G>A	CCDS34013.1	.	.	.	.	.	.	.	.	.	.	C	24.3	4.514655	0.85389	.	.	ENSG00000156194	ENST00000286719;ENST00000337500	T	0.12984	2.63	4.84	4.84	0.62591	Serine/threonine-specific protein phosphatase/bis(5-nucleosyl)-tetraphosphatase (2);Metallophosphoesterase domain (1);	0.000000	0.85682	D	0.000000	T	0.54224	0.1845	H	0.98089	4.145	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.72503	-0.4273	10	0.87932	D	0	-8.6085	15.5116	0.75786	0.0:1.0:0.0:0.0	.	210;210	O14830-2;O14830	.;PPE2_HUMAN	M	210	ENSP00000286719:V210M	ENSP00000286719:V210M	V	-	1	0	PPEF2	77024889	1.000000	0.71417	1.000000	0.80357	0.930000	0.56654	7.000000	0.76290	2.512000	0.84698	0.655000	0.94253	GTG		0.453	PPEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362929.1	NM_006239		35	166	0	0	0	1	0	35	166					T	76805865	C	T	76805865	3	4	435	1	0	0	0	0	1	0	0	0	12308	478	17	3	1673	3	PPEF2	4	76805865	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	235073	76805865	114348411	2346	23271											
CXCL10	3627	broad.mit.edu	37	chr4	76943936	76943936	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggttgattactaatgctgatGcaggtacagcgtacagttct	10	13	11	7	1	1	2	0	2	1	0	1	2	1	2	0	2	6	6	0	2	4	6			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:76943936G>A	ENST00000306602.1	-	2	161	c.96C>T	c.(94-96)tgC>tgT	p.C32C	ART3_ENST00000341029.5_Intron	NM_001565.3	NP_001556.2	P02778	CXL10_HUMAN	chemokine (C-X-C motif) ligand 10	32					blood circulation (GO:0008015)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|cellular response to heat (GO:0034605)|cellular response to lipopolysaccharide (GO:0071222)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|defense response to virus (GO:0051607)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|muscle organ development (GO:0007517)|negative regulation of angiogenesis (GO:0016525)|positive regulation of cAMP metabolic process (GO:0030816)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of cell proliferation (GO:0008284)|positive regulation of leukocyte chemotaxis (GO:0002690)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of T cell migration (GO:2000406)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein secretion (GO:0009306)|regulation of cell proliferation (GO:0042127)|regulation of protein kinase activity (GO:0045859)|response to auditory stimulus (GO:0010996)|response to cold (GO:0009409)|response to gamma radiation (GO:0010332)|response to vitamin D (GO:0033280)|signal transduction (GO:0007165)|T cell chemotaxis (GO:0010818)	external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	cAMP-dependent protein kinase regulator activity (GO:0008603)|chemokine activity (GO:0008009)|CXCR3 chemokine receptor binding (GO:0048248)|heparin binding (GO:0008201)|receptor binding (GO:0005102)			kidney(1)|large_intestine(1)|lung(1)	3			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			TAATGCTGATGCAGGTACAGC	0.398																																						ENST00000306602.1																			0				kidney(1)|large_intestine(1)|lung(1)	3						c.(94-96)tgC>tgT		chemokine (C-X-C motif) ligand 10							136	125	128					4																	76943936		1926	4136	6062	SO:0001819	synonymous_variant	3627				blood circulation|cell surface receptor linked signaling pathway|cell-cell signaling|chemotaxis|inflammatory response|muscle organ development|positive regulation of cell proliferation	extracellular space	cAMP-dependent protein kinase regulator activity|chemokine activity	g.chr4:76943936G>A	X02530	CCDS43240.1	4q21	2013-02-25	2002-08-22	2002-08-23		ENSG00000169245		"Endogenous ligands"	10637	protein-coding gene	gene with protein product		147310	"small inducible cytokine subfamily B (Cys-X-Cys), member 10"	INP10, SCYB10		2437586, 3925348	Standard	NM_001565		Approved	IFI10, IP-10, crg-2, mob-1, C7, gIP-10	uc003hjl.4	P02778		ENST00000306602.1:c.96C>T	4.37:g.76943936G>A						ART3_ENST00000341029.5_Intron	p.C32C	NM_001565.3	NP_001556.2	P02778	CXL10_HUMAN	Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)		2	161	-			32					Q96QJ5	Silent	SNP	ENST00000306602.1	37	c.96C>T	CCDS43240.1																																																																																				0.398	CXCL10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362817.1			33	37	0	0	0	1	0	33	37					A	76943936	G	A	76943936	2	1	435	1	0	0	0	0	0	0	0	1	4078	1311	46	3		3	CXCL10	4	76943936	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	138071	76943936	114210340	2347	23272											
SCARB2	950	broad.mit.edu	37	chr4	77091034	77091034	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actcacaggattaatgtccaCaaatgtctcatggtcttcct	11	13	6	11	0	3	0	2	0	2	0	6	1	5	1	2	2	0	0	2	2	2	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:77091034C>T	ENST00000264896.2	-	8	1448	c.1099G>A	c.(1099-1101)Gtg>Atg	p.V367M	SCARB2_ENST00000452464.2_Missense_Mutation_p.V224M	NM_005506.3	NP_005497.1	Q14108	SCRB2_HUMAN	scavenger receptor class B, member 2	367					cell adhesion (GO:0007155)|protein targeting to lysosome (GO:0006622)	extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|lysosomal lumen (GO:0043202)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	enzyme binding (GO:0019899)|receptor activity (GO:0004872)			breast(1)|endometrium(4)|kidney(4)|large_intestine(7)|lung(3)|prostate(2)|skin(1)	22			Lung(101;0.196)			TTAATGTCCACAAATGTCTCA	0.403																																						ENST00000264896.2																			0				breast(1)|endometrium(4)|kidney(4)|large_intestine(7)|lung(3)|prostate(2)|skin(1)	22						c.(1099-1101)Gtg>Atg		scavenger receptor class B, member 2							158	149	152					4																	77091034		2203	4300	6503	SO:0001583	missense	950				cell adhesion|protein targeting to lysosome	integral to plasma membrane|lysosomal lumen|lysosomal membrane|membrane fraction	enzyme binding|receptor activity	g.chr4:77091034C>T	D12676	CCDS3577.1, CCDS56335.1	4q21.1	2014-07-11	2002-09-06	2002-09-06	ENSG00000138760	ENSG00000138760			1665	protein-coding gene	gene with protein product		602257	"CD36 antigen (collagen type I receptor, thrombospondin receptor)-like 2 (lysosomal integral membrane protein II)"	CD36L2		1374238	Standard	NM_005506		Approved	HLGP85, LIMPII, SR-BII, LIMP-2	uc003hju.2	Q14108	OTTHUMG00000130099	ENST00000264896.2:c.1099G>A	4.37:g.77091034C>T	ENSP00000264896:p.Val367Met					SCARB2_ENST00000452464.2_Missense_Mutation_p.V224M	p.V367M	NM_005506.3	NP_005497.1	Q14108	SCRB2_HUMAN	Lung(101;0.196)		8	1448	-			367					B4DKD8|E7EM68|Q53Y63	Missense_Mutation	SNP	ENST00000264896.2	37	c.1099G>A	CCDS3577.1	.	.	.	.	.	.	.	.	.	.	C	13.16	2.154722	0.38021	.	.	ENSG00000138760	ENST00000264896;ENST00000452464	T;T	0.73152	-0.72;-0.72	4.87	3.01	0.34805	.	0.337429	0.32533	N	0.005978	T	0.63343	0.2503	L	0.43554	1.36	0.43426	D	0.995587	B;B	0.30526	0.283;0.04	B;B	0.40256	0.324;0.063	T	0.58244	-0.7670	10	0.27785	T	0.31	.	7.8543	0.29472	0.1479:0.4846:0.3674:0.0	.	224;367	E7EM68;Q14108	.;SCRB2_HUMAN	M	367;224	ENSP00000264896:V367M;ENSP00000399154:V224M	ENSP00000264896:V367M	V	-	1	0	SCARB2	77310058	1.000000	0.71417	0.998000	0.56505	0.992000	0.81027	1.178000	0.31981	2.406000	0.81754	0.460000	0.39030	GTG		0.403	SCARB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252403.1	NM_005506		31	60	0	0	0	1	0	31	60					T	77091034	C	T	77091034	3	4	435	1	0	0	0	0	1	0	0	0	13882	478	17	3	357	3	SCARB2	4	77091034	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	147098	77091034	114063242	2348	23273											
CCDC158	339965	broad.mit.edu	37	chr4	77290768	77290768	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agctccttctcccttttgtgTagatcagcctaaaaaaagag	12	12	7	10	0	2	2	1	0	1	2	4	2	3	2	3	0	2	2	3	0	5	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:77290768T>C	ENST00000388914.3	-	10	1310	c.1158A>G	c.(1156-1158)ctA>ctG	p.L386L		NM_001042784.1	NP_001036249.1	Q5M9N0	CD158_HUMAN	coiled-coil domain containing 158	386										breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(1)	56						CCCTTTTGTGTAGATCAGCCT	0.418																																						ENST00000388914.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(1)	56						c.(1156-1158)ctA>ctG		coiled-coil domain containing 158							76	75	75					4																	77290768		1936	4134	6070	SO:0001819	synonymous_variant	339965							g.chr4:77290768T>C	BC035224	CCDS43242.1	4q21.1	2009-04-06			ENSG00000163749	ENSG00000163749			26374	protein-coding gene	gene with protein product						12477932	Standard	NM_001042784		Approved	FLJ25770	uc003hkb.4	Q5M9N0	OTTHUMG00000160916	ENST00000388914.3:c.1158A>G	4.37:g.77290768T>C							p.L386L	NM_001042784.1	NP_001036249.1	Q5M9N0	CD158_HUMAN			10	1310	-			386					Q8IYQ1|Q8N7D4|Q8N7E3	Silent	SNP	ENST00000388914.3	37	c.1158A>G	CCDS43242.1																																																																																				0.418	CCDC158-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362694.2	NM_001042784		10	36	0	0	0	1	0	10	36					C	77290768	T	C	77290768	2	2	435	1	0	0	0	0	0	0	0	1	2790	1625	57	4		4	CCDC158	4	77290768	Silent	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	199734	77290768	113863508	2349	23274											
CCDC158	339965	broad.mit.edu	37	chr4	77292662	77292662	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agttagctctgagttggcaaGgactaactgcttttccagct	9	13	10	9	0	1	1	0	1	1	0	2	2	2	2	1	2	4	6	1	2	3	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:77292662G>A	ENST00000388914.3	-	9	1209	c.1057C>T	c.(1057-1059)Ctt>Ttt	p.L353F		NM_001042784.1	NP_001036249.1	Q5M9N0	CD158_HUMAN	coiled-coil domain containing 158	353										breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(1)	56						GAGTTGGCAAGGACTAACTGC	0.383																																						ENST00000388914.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(1)	56						c.(1057-1059)Ctt>Ttt		coiled-coil domain containing 158							103	92	96					4																	77292662		1844	4089	5933	SO:0001583	missense	339965							g.chr4:77292662G>A	BC035224	CCDS43242.1	4q21.1	2009-04-06			ENSG00000163749	ENSG00000163749			26374	protein-coding gene	gene with protein product						12477932	Standard	NM_001042784		Approved	FLJ25770	uc003hkb.4	Q5M9N0	OTTHUMG00000160916	ENST00000388914.3:c.1057C>T	4.37:g.77292662G>A	ENSP00000373566:p.Leu353Phe						p.L353F	NM_001042784.1	NP_001036249.1	Q5M9N0	CD158_HUMAN			9	1209	-			353					Q8IYQ1|Q8N7D4|Q8N7E3	Missense_Mutation	SNP	ENST00000388914.3	37	c.1057C>T	CCDS43242.1	.	.	.	.	.	.	.	.	.	.	G	17.89	3.498651	0.64298	.	.	ENSG00000163749	ENST00000388914;ENST00000318586	T	0.79033	-1.23	5.98	5.14	0.70334	.	0.138452	0.31092	N	0.008270	T	0.78629	0.4313	N	0.19112	0.55	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.80125	-0.1513	10	0.56958	D	0.05	.	10.5095	0.44853	0.1514:0.0:0.8486:0.0	.	353	Q5M9N0	CD158_HUMAN	F	353	ENSP00000373566:L353F	ENSP00000316815:L353F	L	-	1	0	CCDC158	77511686	1.000000	0.71417	0.998000	0.56505	0.845000	0.48019	2.650000	0.46665	1.549000	0.49425	0.644000	0.83932	CTT		0.383	CCDC158-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362694.2	NM_001042784		22	41	0	0	0	1	0	22	41					A	77292662	G	A	77292662	3	1	435	1	0	0	0	0	1	0	0	0	2790	1000	35	3	2348	3	CCDC158	4	77292662	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	1894	77292662	113861614	2350	23275											
CCNI	10983	broad.mit.edu	37	chr4	77969538	77969538	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cttccatttcctctactttgCgtttagtagaggtctgcttg	5	18	8	10	1	2	1	0	0	2	1	4	1	4	1	2	1	3	3	2	1	3	8			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:77969538C>T	ENST00000237654.4	-	7	1544	c.968G>A	c.(967-969)cGc>cAc	p.R323H	CCNI_ENST00000537948.1_Missense_Mutation_p.R309H	NM_006835.2	NP_006826.1	Q14094	CCNI_HUMAN	cyclin I	323					regulation of cell cycle (GO:0051726)|spermatogenesis (GO:0007283)					NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)	9						CTCTACTTTGCGTTTAGTAGA	0.468																																						ENST00000237654.4																			0				NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)	9						c.(967-969)cGc>cAc		cyclin I							145	145	145					4																	77969538		2203	4300	6503	SO:0001583	missense	10983				spermatogenesis			g.chr4:77969538C>T	D50310	CCDS3580.1	4q21.1	2014-07-03			ENSG00000118816	ENSG00000118816			1595	protein-coding gene	gene with protein product						7493655	Standard	NM_006835		Approved	CCNI1	uc003hkm.3	Q14094	OTTHUMG00000130106	ENST00000237654.4:c.968G>A	4.37:g.77969538C>T	ENSP00000237654:p.Arg323His					CCNI_ENST00000537948.1_Missense_Mutation_p.R309H	p.R323H	NM_006835.2	NP_006826.1	Q14094	CCNI_HUMAN			7	1544	-			323					B2R6M0|B7Z6X4	Missense_Mutation	SNP	ENST00000237654.4	37	c.968G>A	CCDS3580.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.140412	0.77775	.	.	ENSG00000118816	ENST00000237654;ENST00000537948	T;T	0.46063	0.88;0.88	5.57	5.57	0.84162	.	0.000000	0.85682	D	0.000000	T	0.65923	0.2738	M	0.70275	2.135	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.73380	0.973;0.98	T	0.67589	-0.5632	10	0.66056	D	0.02	-2.6814	19.5565	0.95351	0.0:1.0:0.0:0.0	.	309;323	B7Z6X4;Q14094	.;CCNI_HUMAN	H	323;309	ENSP00000237654:R323H;ENSP00000441001:R309H	ENSP00000237654:R323H	R	-	2	0	CCNI	78188562	1.000000	0.71417	1.000000	0.80357	0.914000	0.54420	4.376000	0.59556	2.614000	0.88457	0.563000	0.77884	CGC		0.468	CCNI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252412.2	NM_006835		29	53	0	0	0	1	0	29	53					T	77969538	C	T	77969538	3	4	435	1	0	0	0	0	1	0	0	0	2926	768	27	1	169	1	CCNI	4	77969538	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	676876	77969538	113184738	2351	23276											
CNOT6L	246175	broad.mit.edu	37	chr4	78647372	78647372	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atcaagttattttcataggcGctcttaagttggaagccatg	11	14	9	7	1	3	0	2	0	1	0	3	1	3	1	1	2	1	3	1	2	5	6			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:78647372G>A	ENST00000504123.1	-	11	1534	c.1404C>T	c.(1402-1404)agC>agT	p.S468S	CNOT6L_ENST00000264903.4_Silent_p.S468S			Q96LI5	CNO6L_HUMAN	CCR4-NOT transcription complex, subunit 6-like	468	Nuclease domain.				gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA destabilization (GO:0061157)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytoplasmic mRNA processing body assembly (GO:0010606)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|transcription, DNA-templated (GO:0006351)	CCR4-NOT complex (GO:0030014)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A)-specific ribonuclease activity (GO:0004535)			kidney(1)|large_intestine(1)|lung(6)|urinary_tract(1)	9						TTTCATAGGCGCTCTTAAGTT	0.408																																						ENST00000504123.1																			0				kidney(1)|large_intestine(1)|lung(6)|urinary_tract(1)	9						c.(1402-1404)agC>agT		CCR4-NOT transcription complex, subunit 6-like							220	204	209					4																	78647372		1843	4092	5935	SO:0001819	synonymous_variant	246175				nuclear-transcribed mRNA poly(A) tail shortening	cytosol	exonuclease activity|protein binding	g.chr4:78647372G>A	AL133112	CCDS68731.1	4q13.3	2014-06-17				ENSG00000138767			18042	protein-coding gene	gene with protein product							Standard	NM_144571		Approved	DKFZp434K098, Ccr4b	uc003hks.3	Q96LI5		ENST00000504123.1:c.1404C>T	4.37:g.78647372G>A						CNOT6L_ENST00000264903.4_Silent_p.S468S	p.S468S			Q96LI5	CNO6L_HUMAN			11	1534	-			468					Q9UF92	Silent	SNP	ENST00000504123.1	37	c.1404C>T																																																																																					0.408	CNOT6L-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000362515.1			22	118	0	0	0	1	0	22	118					A	78647372	G	A	78647372	2	1	435	1	0	0	0	0	0	0	0	1	3623	1078	38	1		1	CNOT6L	4	78647372	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	677834	78647372	112506904	2352	23277											
FRAS1	80144	broad.mit.edu	37	chr4	79240097	79240097	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctggcgagtgtctagcccaGtgtagagcccatttttactt	7	14	10	10	1	2	1	0	0	2	1	2	2	2	1	2	1	3	1	2	1	3	6			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:79240097G>A	ENST00000325942.6	+	18	2534	c.2094G>A	c.(2092-2094)caG>caA	p.Q698Q	FRAS1_ENST00000264899.6_Silent_p.Q698Q|FRAS1_ENST00000264895.6_Silent_p.Q698Q	NM_001166133.1	NP_001159605.1	Q86XX4	FRAS1_HUMAN	Fraser extracellular matrix complex subunit 1	698					cell communication (GO:0007154)|embryonic limb morphogenesis (GO:0030326)|metanephros morphogenesis (GO:0003338)|morphogenesis of an epithelium (GO:0002009)|palate development (GO:0060021)|protein transport (GO:0015031)|skin development (GO:0043588)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sublamina densa (GO:0061618)	metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						GTCTAGCCCAGTGTAGAGCCC	0.522																																						ENST00000264895.6																			0				breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						c.(2092-2094)caG>caA		Fraser syndrome 1							150	150	150					4																	79240097		1943	4156	6099	SO:0001819	synonymous_variant	80144				cell communication	integral to membrane|plasma membrane	metal ion binding	g.chr4:79240097G>A	AB040933	CCDS54772.1	4q21.21	2014-06-25	2014-06-25		ENSG00000138759	ENSG00000138759			19185	protein-coding gene	gene with protein product		607830	"Fraser syndrome 1"			12766769, 3118036	Standard	NM_025074		Approved	FLJ22031, FLJ14927, KIAA1500	uc003hlb.2	Q86XX4	OTTHUMG00000160856	ENST00000325942.6:c.2094G>A	4.37:g.79240097G>A						FRAS1_ENST00000325942.6_Silent_p.Q698Q|FRAS1_ENST00000264899.6_Silent_p.Q698Q	p.Q698Q	NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN			18	2534	+			698					A2RRR8|Q86UZ4|Q8N3U9|Q8NAU7|Q96JW7|Q9H6N9|Q9P228	Silent	SNP	ENST00000325942.6	37	c.2094G>A	CCDS54772.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	0.018|0.018	-1.482745|-1.482745	0.01027|0.01027	.|.	.|.	ENSG00000138759|ENSG00000138759	ENST00000502446|ENST00000508900	.|.	.|.	.|.	5.93|5.93	-0.192|-0.192	0.13248|0.13248	.|.	.|.	.|.	.|.	.|.	T|T	0.40932|0.40932	0.1137|0.1137	.|.	.|.	.|.	0.58432|0.58432	D|D	0.999997|0.999997	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.21690|0.21690	-1.0238|-1.0238	4|4	.|.	.|.	.|.	.|.	0.9926|0.9926	0.01460|0.01460	0.1999:0.2272:0.3401:0.2329|0.1999:0.2272:0.3401:0.2329	.|.	.|.	.|.	.|.	N|M	627|541	.|.	.|.	S|V	+|+	2|1	0|0	FRAS1|FRAS1	79459121|79459121	0.091000|0.091000	0.21658|0.21658	0.010000|0.010000	0.14722|0.14722	0.007000|0.007000	0.05969|0.05969	0.139000|0.139000	0.16036|0.16036	-0.394000|-0.394000	0.07727|0.07727	0.655000|0.655000	0.94253|0.94253	AGT|GTG		0.522	FRAS1-001	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000362706.2			58	75	0	0	0	1	0	58	75					A	79240097	G	A	79240097	2	1	435	1	0	0	0	0	0	0	0	1	6042	1020	36	3		3	FRAS1	4	79240097	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	592725	79240097	111914179	2353	23278											
FRAS1	80144	broad.mit.edu	37	chr4	79434602	79434602	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aatgctgccccttatctccaCcatgccgttgcacaacttac	9	11	5	16	1	1	0	0	0	1	0	2	0	1	0	5	0	6	3	5	0	4	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:79434602C>A	ENST00000264895.6	+	65	10510	c.10070C>A	c.(10069-10071)aCc>aAc	p.T3357N		NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser extracellular matrix complex subunit 1	3353					cell communication (GO:0007154)|embryonic limb morphogenesis (GO:0030326)|metanephros morphogenesis (GO:0003338)|morphogenesis of an epithelium (GO:0002009)|palate development (GO:0060021)|protein transport (GO:0015031)|skin development (GO:0043588)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sublamina densa (GO:0061618)	metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						CTTATCTCCACCATGCCGTTG	0.468																																						ENST00000264895.6																			0				breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						c.(10069-10071)aCc>aAc		Fraser syndrome 1							175	170	172					4																	79434602		2020	4186	6206	SO:0001583	missense	80144				cell communication	integral to membrane|plasma membrane	metal ion binding	g.chr4:79434602C>A	AB040933	CCDS54772.1	4q21.21	2014-06-25	2014-06-25		ENSG00000138759	ENSG00000138759			19185	protein-coding gene	gene with protein product		607830	"Fraser syndrome 1"			12766769, 3118036	Standard	NM_025074		Approved	FLJ22031, FLJ14927, KIAA1500	uc003hlb.2	Q86XX4	OTTHUMG00000160856	ENST00000264895.6:c.10070C>A	4.37:g.79434602C>A	ENSP00000264895:p.Thr3357Asn						p.T3357N	NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN			65	10510	+			3352					A2RRR8|Q86UZ4|Q8N3U9|Q8NAU7|Q96JW7|Q9H6N9|Q9P228	Missense_Mutation	SNP	ENST00000264895.6	37	c.10070C>A	CCDS54771.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	32|32	5.142634|5.142634	0.94560|0.94560	.|.	.|.	ENSG00000138759|ENSG00000138759	ENST00000512123|ENST00000264895	.|T	.|0.23147	.|1.92	5.7|5.7	5.7|5.7	0.88788|0.88788	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.57975|0.57975	0.2090|0.2090	M|M	0.84082|0.84082	2.675|2.675	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.91635	.|0.999	T|T	0.62101|0.62101	-0.6925|-0.6925	5|10	.|0.87932	.|D	.|0	.|.	19.8365|19.8365	0.96659|0.96659	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|3357	.|E9PHH6	.|.	Q|N	1585|3357	.|ENSP00000264895:T3357N	.|ENSP00000264895:T3357N	H|T	+|+	3|2	2|0	FRAS1|FRAS1	79653626|79653626	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.969000|0.969000	0.65631|0.65631	7.673000|7.673000	0.83973|0.83973	2.694000|2.694000	0.91930|0.91930	0.467000|0.467000	0.42956|0.42956	CAC|ACC		0.468	FRAS1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				7	78	1	0	5.18039e-06	1	5.37127e-06	7	78					A	79434602	C	A	79434602	3	1	435	1	0	0	0	0	1	0	0	0	6042	507	18	5	10403	5	FRAS1	4	79434602	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	194505	79434602	111719674	2354	23279											
HPSE	10855	broad.mit.edu	37	chr4	84230632	84230632	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcttccttggtagcagtccGtccattcaaatagtagctaa	11	13	7	10	1	2	0	1	0	1	0	5	0	5	0	3	1	2	4	3	1	5	7	rs535350287		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:84230632G>A	ENST00000405413.2	-	8	1043	c.907C>T	c.(907-909)Cgg>Tgg	p.R303W	HPSE_ENST00000513463.1_Missense_Mutation_p.R245W|HPSE_ENST00000512196.1_Missense_Mutation_p.R303W|HPSE_ENST00000311412.5_Missense_Mutation_p.R303W	NM_006665.5	NP_006656.2	Q9Y251	HPSE_HUMAN	heparanase	303					carbohydrate metabolic process (GO:0005975)|cell-matrix adhesion (GO:0007160)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan catabolic process (GO:0030200)|positive regulation of blood coagulation (GO:0030194)|positive regulation of hair follicle development (GO:0051798)|positive regulation of osteoblast proliferation (GO:0033690)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation vascular endothelial growth factor production (GO:0010575)|proteoglycan metabolic process (GO:0006029)|regulation of hair follicle development (GO:0051797)|small molecule metabolic process (GO:0044281)|vascular wound healing (GO:0061042)	extracellular region (GO:0005576)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)|membrane raft (GO:0045121)|nucleus (GO:0005634)	beta-glucuronidase activity (GO:0004566)|heparanase activity (GO:0030305)|protein dimerization activity (GO:0046983)|syndecan binding (GO:0045545)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	20		Hepatocellular(203;0.114)		COAD - Colon adenocarcinoma(81;0.141)	Dalteparin(DB06779)|Heparin(DB01109)	GTAGCAGTCCGTCCATTCAAA	0.299																																						ENST00000405413.2																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	20						c.(907-909)Cgg>Tgg		heparanase	Heparin(DB01109)						52	56	55					4																	84230632		2202	4294	6496	SO:0001583	missense	10855				carbohydrate metabolic process|cell adhesion|proteoglycan metabolic process	extracellular region|lysosomal membrane|nucleus	beta-glucuronidase activity|cation binding	g.chr4:84230632G>A	AF144325	CCDS3602.1, CCDS54774.1, CCDS56337.1	4q21.3	2008-02-05			ENSG00000173083	ENSG00000173083			5164	protein-coding gene	gene with protein product		604724				10395325, 10395326	Standard	NM_006665		Approved	HPA, HSE1, HPSE1	uc003hoj.4	Q9Y251	OTTHUMG00000130425	ENST00000405413.2:c.907C>T	4.37:g.84230632G>A	ENSP00000384262:p.Arg303Trp					HPSE_ENST00000512196.1_Missense_Mutation_p.R303W|HPSE_ENST00000311412.5_Missense_Mutation_p.R303W|HPSE_ENST00000513463.1_Missense_Mutation_p.R245W	p.R303W	NM_006665.5	NP_006656.2	Q9Y251	HPSE_HUMAN		COAD - Colon adenocarcinoma(81;0.141)	8	1043	-		Hepatocellular(203;0.114)	303					A9JIG7|C7F7I3|C7F7I4|E9PCA9|E9PGR1|Q53GE5|Q9UL39	Missense_Mutation	SNP	ENST00000405413.2	37	c.907C>T	CCDS3602.1	.	.	.	.	.	.	.	.	.	.	G	16.98	3.270343	0.59540	.	.	ENSG00000173083	ENST00000311412;ENST00000405413;ENST00000512196;ENST00000513463	T;T;T;T	0.29655	1.56;1.56;1.56;1.56	4.83	3.98	0.46160	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.121525	0.56097	D	0.000036	T	0.59945	0.2231	M	0.86343	2.81	0.47621	D	0.999477	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.80764	0.976;0.994;0.989;0.994	T	0.69064	-0.5244	10	0.72032	D	0.01	-4.8725	14.5088	0.67769	0.0:0.0:0.8517:0.1483	.	303;245;245;303	E9PCA9;A9JIG7;E9PGR1;Q9Y251	.;.;.;HPSE_HUMAN	W	303;303;303;245	ENSP00000308107:R303W;ENSP00000384262:R303W;ENSP00000423265:R303W;ENSP00000421365:R245W	ENSP00000308107:R303W	R	-	1	2	HPSE	84449656	1.000000	0.71417	1.000000	0.80357	0.894000	0.52154	1.855000	0.39378	1.365000	0.46057	0.591000	0.81541	CGG		0.299	HPSE-001	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252812.2	NM_006665		10	24	0	0	0	1	0	10	24					A	84230632	G	A	84230632	3	1	435	1	0	0	0	0	1	0	0	0	7344	1144	40	1	748	1	HPSE	4	84230632	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	4796030	84230632	106923644	2355	23280											
HPSE	10855	broad.mit.edu	37	chr4	84231935	84231935	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	catcaggaccatagagttttGcatttttgaaggtggacttt	10	15	10	6	0	1	2	1	1	0	1	1	4	1	4	1	3	1	2	1	3	2	6			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:84231935G>A	ENST00000405413.2	-	6	918	c.782C>T	c.(781-783)gCa>gTa	p.A261V	HPSE_ENST00000513463.1_Missense_Mutation_p.A203V|HPSE_ENST00000512196.1_Missense_Mutation_p.A261V|HPSE_ENST00000311412.5_Missense_Mutation_p.A261V	NM_006665.5	NP_006656.2	Q9Y251	HPSE_HUMAN	heparanase	261					carbohydrate metabolic process (GO:0005975)|cell-matrix adhesion (GO:0007160)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan catabolic process (GO:0030200)|positive regulation of blood coagulation (GO:0030194)|positive regulation of hair follicle development (GO:0051798)|positive regulation of osteoblast proliferation (GO:0033690)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation vascular endothelial growth factor production (GO:0010575)|proteoglycan metabolic process (GO:0006029)|regulation of hair follicle development (GO:0051797)|small molecule metabolic process (GO:0044281)|vascular wound healing (GO:0061042)	extracellular region (GO:0005576)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)|membrane raft (GO:0045121)|nucleus (GO:0005634)	beta-glucuronidase activity (GO:0004566)|heparanase activity (GO:0030305)|protein dimerization activity (GO:0046983)|syndecan binding (GO:0045545)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	20		Hepatocellular(203;0.114)		COAD - Colon adenocarcinoma(81;0.141)	Dalteparin(DB06779)|Heparin(DB01109)	ATAGAGTTTTGCATTTTTGAA	0.388																																						ENST00000405413.2																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	20						c.(781-783)gCa>gTa		heparanase	Heparin(DB01109)						186	181	183					4																	84231935		2203	4300	6503	SO:0001583	missense	10855				carbohydrate metabolic process|cell adhesion|proteoglycan metabolic process	extracellular region|lysosomal membrane|nucleus	beta-glucuronidase activity|cation binding	g.chr4:84231935G>A	AF144325	CCDS3602.1, CCDS54774.1, CCDS56337.1	4q21.3	2008-02-05			ENSG00000173083	ENSG00000173083			5164	protein-coding gene	gene with protein product		604724				10395325, 10395326	Standard	NM_006665		Approved	HPA, HSE1, HPSE1	uc003hoj.4	Q9Y251	OTTHUMG00000130425	ENST00000405413.2:c.782C>T	4.37:g.84231935G>A	ENSP00000384262:p.Ala261Val					HPSE_ENST00000512196.1_Missense_Mutation_p.A261V|HPSE_ENST00000311412.5_Missense_Mutation_p.A261V|HPSE_ENST00000513463.1_Missense_Mutation_p.A203V	p.A261V	NM_006665.5	NP_006656.2	Q9Y251	HPSE_HUMAN		COAD - Colon adenocarcinoma(81;0.141)	6	918	-		Hepatocellular(203;0.114)	261					A9JIG7|C7F7I3|C7F7I4|E9PCA9|E9PGR1|Q53GE5|Q9UL39	Missense_Mutation	SNP	ENST00000405413.2	37	c.782C>T	CCDS3602.1	.	.	.	.	.	.	.	.	.	.	G	19.87	3.907915	0.72868	.	.	ENSG00000173083	ENST00000311412;ENST00000405413;ENST00000512196;ENST00000513463	T;T;T;T	0.33216	1.42;1.42;1.42;1.42	5.11	5.11	0.69529	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.158849	0.56097	D	0.000022	T	0.47507	0.1449	L	0.48877	1.53	0.54753	D	0.999981	D;B;B	0.67145	0.996;0.241;0.236	D;B;B	0.67725	0.953;0.178;0.134	T	0.14896	-1.0456	10	0.25106	T	0.35	-15.6311	18.3219	0.90241	0.0:0.0:1.0:0.0	.	261;203;261	E9PCA9;E9PGR1;Q9Y251	.;.;HPSE_HUMAN	V	261;261;261;203	ENSP00000308107:A261V;ENSP00000384262:A261V;ENSP00000423265:A261V;ENSP00000421365:A203V	ENSP00000308107:A261V	A	-	2	0	HPSE	84450959	0.990000	0.36364	1.000000	0.80357	0.997000	0.91878	6.716000	0.74702	2.655000	0.90218	0.585000	0.79938	GCA		0.388	HPSE-001	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252812.2	NM_006665		6	159	0	0	0	1	0	6	159					A	84231935	G	A	84231935	3	1	435	1	0	0	0	0	1	0	0	0	7344	1319	46	3	881	3	HPSE	4	84231935	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	1303	84231935	106922341	2356	23281											
HPSE	10855	broad.mit.edu	37	chr4	84240569	84240569	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ttgctcctggtagggccattCcaaccgtaacttctcctcca	7	12	7	15	1	1	0	0	0	1	0	5	0	4	0	6	2	3	3	6	2	3	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:84240569C>T	ENST00000405413.2	-	4	563	c.427G>A	c.(427-429)Gaa>Aaa	p.E143K	HPSE_ENST00000513463.1_Missense_Mutation_p.E143K|HPSE_ENST00000512196.1_Missense_Mutation_p.E143K|HPSE_ENST00000311412.5_Missense_Mutation_p.E143K	NM_006665.5	NP_006656.2	Q9Y251	HPSE_HUMAN	heparanase	143					carbohydrate metabolic process (GO:0005975)|cell-matrix adhesion (GO:0007160)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan catabolic process (GO:0030200)|positive regulation of blood coagulation (GO:0030194)|positive regulation of hair follicle development (GO:0051798)|positive regulation of osteoblast proliferation (GO:0033690)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation vascular endothelial growth factor production (GO:0010575)|proteoglycan metabolic process (GO:0006029)|regulation of hair follicle development (GO:0051797)|small molecule metabolic process (GO:0044281)|vascular wound healing (GO:0061042)	extracellular region (GO:0005576)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)|membrane raft (GO:0045121)|nucleus (GO:0005634)	beta-glucuronidase activity (GO:0004566)|heparanase activity (GO:0030305)|protein dimerization activity (GO:0046983)|syndecan binding (GO:0045545)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	20		Hepatocellular(203;0.114)		COAD - Colon adenocarcinoma(81;0.141)	Dalteparin(DB06779)|Heparin(DB01109)	TAGGGCCATTCCAACCGTAAC	0.443																																						ENST00000405413.2																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	20						c.(427-429)Gaa>Aaa		heparanase	Heparin(DB01109)						159	147	151					4																	84240569		2203	4300	6503	SO:0001583	missense	10855				carbohydrate metabolic process|cell adhesion|proteoglycan metabolic process	extracellular region|lysosomal membrane|nucleus	beta-glucuronidase activity|cation binding	g.chr4:84240569C>T	AF144325	CCDS3602.1, CCDS54774.1, CCDS56337.1	4q21.3	2008-02-05			ENSG00000173083	ENSG00000173083			5164	protein-coding gene	gene with protein product		604724				10395325, 10395326	Standard	NM_006665		Approved	HPA, HSE1, HPSE1	uc003hoj.4	Q9Y251	OTTHUMG00000130425	ENST00000405413.2:c.427G>A	4.37:g.84240569C>T	ENSP00000384262:p.Glu143Lys					HPSE_ENST00000512196.1_Missense_Mutation_p.E143K|HPSE_ENST00000311412.5_Missense_Mutation_p.E143K|HPSE_ENST00000513463.1_Missense_Mutation_p.E143K	p.E143K	NM_006665.5	NP_006656.2	Q9Y251	HPSE_HUMAN		COAD - Colon adenocarcinoma(81;0.141)	4	563	-		Hepatocellular(203;0.114)	143					A9JIG7|C7F7I3|C7F7I4|E9PCA9|E9PGR1|Q53GE5|Q9UL39	Missense_Mutation	SNP	ENST00000405413.2	37	c.427G>A	CCDS3602.1	.	.	.	.	.	.	.	.	.	.	C	15.68	2.906258	0.52333	.	.	ENSG00000173083	ENST00000311412;ENST00000405413;ENST00000512196;ENST00000513463	T;T;T;T	0.49432	0.82;0.82;0.78;1.53	5.14	5.14	0.70334	Glycoside hydrolase, superfamily (1);	0.249746	0.39687	N	0.001298	T	0.39517	0.1081	L	0.41710	1.295	0.39869	D	0.973489	P;B;P	0.51057	0.798;0.114;0.941	B;B;P	0.45343	0.3;0.203;0.477	T	0.16217	-1.0410	10	0.09084	T	0.74	-28.173	12.7943	0.57551	0.0:0.7101:0.2899:0.0	.	143;143;143	E9PCA9;E9PGR1;Q9Y251	.;.;HPSE_HUMAN	K	143	ENSP00000308107:E143K;ENSP00000384262:E143K;ENSP00000423265:E143K;ENSP00000421365:E143K	ENSP00000308107:E143K	E	-	1	0	HPSE	84459593	0.990000	0.36364	0.952000	0.39060	0.215000	0.24574	2.641000	0.46587	2.685000	0.91497	0.591000	0.81541	GAA		0.443	HPSE-001	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252812.2	NM_006665		27	46	0	0	0	1	0	27	46					T	84240569	C	T	84240569	3	4	435	1	0	0	0	0	1	0	0	0	7344	864	30	3	1244	3	HPSE	4	84240569	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	8634	84240569	106913707	2357	23282											
HELQ	113510	broad.mit.edu	37	chr4	84342850	84342850	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gagcaaggtataaagaacaaAagacagatatagcctgttga	19	7	10	5	0	0	4	0	1	0	3	0	5	0	4	1	1	3	3	1	1	9	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:84342850A>G	ENST00000295488.3	-	15	2977	c.2815T>C	c.(2815-2817)Ttt>Ctt	p.F939L	HELQ_ENST00000510985.1_Missense_Mutation_p.F872L	NM_133636.2	NP_598375	Q8TDG4	HELQ_HUMAN	helicase, POLQ-like	939					double-strand break repair via homologous recombination (GO:0000724)	nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)	p.F939V(1)		breast(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(10)|lung(17)|ovary(2)|skin(2)	38						TAAAGAACAAAAGACAGATAT	0.338								Other identified genes with known or suspected DNA repair function																														ENST00000295488.3																			1	Substitution - Missense(1)	p.F939V(1)	lung(1)	breast(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(10)|lung(17)|ovary(2)|skin(2)	38						c.(2815-2817)Ttt>Ctt	Other identified genes with known or suspected DNA repair function	helicase, POLQ-like							85	84	84					4																	84342850		2203	4300	6503	SO:0001583	missense	113510						ATP binding|ATP-dependent helicase activity|nucleic acid binding	g.chr4:84342850A>G	AF436845	CCDS3603.1, CCDS75158.1	4q21.23	2009-02-26			ENSG00000163312	ENSG00000163312			18536	protein-coding gene	gene with protein product		606769				11751861	Standard	XM_005262711		Approved	Hel308	uc003hom.3	Q8TDG4	OTTHUMG00000130423	ENST00000295488.3:c.2815T>C	4.37:g.84342850A>G	ENSP00000295488:p.Phe939Leu					HELQ_ENST00000510985.1_Missense_Mutation_p.F872L	p.F939L	NM_133636.2	NP_598375.2	Q8TDG4	HELQ_HUMAN			15	2977	-			939					Q05DF9|Q502W9|Q659B8|Q6ZQX4|Q6ZTS4|Q96EX7	Missense_Mutation	SNP	ENST00000295488.3	37	c.2815T>C	CCDS3603.1	.	.	.	.	.	.	.	.	.	.	A	6.048	0.377233	0.11466	.	.	ENSG00000163312	ENST00000295488;ENST00000510985	T;T	0.75050	-0.9;-0.9	5.04	5.04	0.67666	.	0.056516	0.64402	D	0.000001	T	0.45736	0.1357	N	0.02142	-0.665	0.49687	D	0.999817	B;B	0.12013	0.005;0.001	B;B	0.11329	0.006;0.001	T	0.51748	-0.8666	10	0.02654	T	1	-50.9182	14.7666	0.69642	1.0:0.0:0.0:0.0	.	872;939	E3W980;Q8TDG4	.;HELQ_HUMAN	L	939;872	ENSP00000295488:F939L;ENSP00000424539:F872L	ENSP00000295488:F939L	F	-	1	0	HELQ	84561874	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	2.937000	0.48979	1.895000	0.54865	0.482000	0.46254	TTT		0.338	HELQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252810.1	NM_133636		14	27	0	0	0	1	0	14	27					G	84342850	A	G	84342850	3	3	435	1	0	0	0	0	1	0	0	0	7047	14	1	4	506	4	HELQ	4	84342850	Missense_Mutation	SNP	A	TCGA-XK-AAIW-01A-11D-A41K-08	102281	84342850	106811426	2358	23283											
CDS1	1040	broad.mit.edu	37	chr4	85564217	85564217	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tttccagatccacagcattgCactgtcaacctttgcatctt	9	14	5	13	0	2	1	1	0	1	1	4	1	4	1	3	0	4	3	3	0	1	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:85564217C>T	ENST00000295887.5	+	11	1496	c.1073C>T	c.(1072-1074)gCa>gTa	p.A358V		NM_001263.3	NP_001254.2	O96017	CHK2_HUMAN	CDP-diacylglycerol synthase (phosphatidate cytidylyltransferase) 1	0	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular protein catabolic process (GO:0044257)|cellular response to DNA damage stimulus (GO:0006974)|DNA damage checkpoint (GO:0000077)|DNA damage induced protein phosphorylation (GO:0006975)|double-strand break repair (GO:0006302)|G2/M transition of mitotic cell cycle (GO:0000086)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)|regulation of protein catabolic process (GO:0042176)|regulation of transcription, DNA-templated (GO:0006355)|replicative senescence (GO:0090399)|response to gamma radiation (GO:0010332)|signal transduction in response to DNA damage (GO:0042770)|signal transduction involved in intra-S DNA damage checkpoint (GO:0072428)|spindle assembly involved in mitosis (GO:0090307)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|PML body (GO:0016605)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|liver(2)|lung(5)|ovary(1)	20		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.00101)		CACAGCATTGCACTGTCAACC	0.418																																						ENST00000295887.5																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|liver(2)|lung(5)|ovary(1)	20						c.(1072-1074)gCa>gTa		CDP-diacylglycerol synthase (phosphatidate cytidylyltransferase) 1							174	176	175					4																	85564217		2203	4300	6503	SO:0001583	missense	1040				signal transduction|visual perception	endoplasmic reticulum membrane|integral to membrane	diacylglycerol cholinephosphotransferase activity|phosphatidate cytidylyltransferase activity	g.chr4:85564217C>T	U65887	CCDS3608.1	4q21	2008-02-05			ENSG00000163624	ENSG00000163624	2.7.7.41		1800	protein-coding gene	gene with protein product		603548				9806839, 9115637	Standard	NM_001263		Approved		uc011ccv.2	Q92903	OTTHUMG00000130428	ENST00000295887.5:c.1073C>T	4.37:g.85564217C>T	ENSP00000295887:p.Ala358Val						p.A358V	NM_001263.3	NP_001254.2	Q92903	CDS1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.00101)	11	1496	+		Hepatocellular(203;0.114)	358					A8K3Y9|B7ZBF3|B7ZBF4|B7ZBF5|Q6QA03|Q6QA04|Q6QA05|Q6QA06|Q6QA07|Q6QA08|Q6QA10|Q6QA11|Q6QA12|Q6QA13|Q9HBS5|Q9HCQ8|Q9UGF0|Q9UGF1	Missense_Mutation	SNP	ENST00000295887.5	37	c.1073C>T	CCDS3608.1	.	.	.	.	.	.	.	.	.	.	C	9.892	1.204532	0.22205	.	.	ENSG00000163624	ENST00000295887	T	0.40476	1.03	4.72	4.72	0.59763	.	0.222239	0.45867	D	0.000332	T	0.30510	0.0767	N	0.21097	0.63	0.80722	D	1	B	0.24258	0.1	B	0.28305	0.088	T	0.08472	-1.0720	10	0.07990	T	0.79	-12.667	17.8805	0.88839	0.0:1.0:0.0:0.0	.	358	Q92903	CDS1_HUMAN	V	358	ENSP00000295887:A358V	ENSP00000295887:A358V	A	+	2	0	CDS1	85783241	0.931000	0.31567	0.997000	0.53966	0.005000	0.04900	2.001000	0.40825	2.438000	0.82558	0.655000	0.94253	GCA		0.418	CDS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252817.2			46	81	0	0	0	1	0	46	81					T	85564217	C	T	85564217	3	4	435	1	0	0	0	0	1	0	0	0	3177	710	25	3	1115	3	CDS1	4	85564217	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	1221367	85564217	105590059	2359	23284											
WDFY3	23001	broad.mit.edu	37	chr4	85609385	85609385	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ataggctaatgatgctgtggCgcaggtgacggtatcagtgt	9	11	15	6	2	1	2	1	2	0	0	1	2	1	2	0	4	1	4	0	4	3	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:85609385C>T	ENST00000295888.4	-	62	9804	c.9397G>A	c.(9397-9399)Gcc>Acc	p.A3133T	RN7SL552P_ENST00000462094.2_RNA|WDFY3_ENST00000322366.6_Missense_Mutation_p.A3116T	NM_014991.4	NP_055806.2	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	3133	Interaction with ATG5.|Interaction with SQSTM1.				aggrephagy (GO:0035973)|positive regulation of macroautophagy (GO:0016239)	autophagic vacuole (GO:0005776)|cytoplasm (GO:0005737)|extrinsic component of membrane (GO:0019898)|inclusion body (GO:0016234)|nuclear envelope (GO:0005635)|PML body (GO:0016605)	1-phosphatidylinositol binding (GO:0005545)|beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity (GO:0003831)|metal ion binding (GO:0046872)			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		GATGCTGTGGCGCAGGTGACG	0.468																																						ENST00000322366.6																			0				breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						c.(9346-9348)Gcc>Acc		WD repeat and FYVE domain containing 3							108	95	100					4																	85609385		2203	4300	6503	SO:0001583	missense	23001					cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding	g.chr4:85609385C>T	AB023210	CCDS3609.1	4q21.3	2013-01-09			ENSG00000163625	ENSG00000163625		"Zinc fingers, FYVE domain containing", "WD repeat domain containing"	20751	protein-coding gene	gene with protein product						10231032	Standard	NM_014991		Approved	KIAA0993, ALFY, ZFYVE25	uc003hpd.3	Q8IZQ1	OTTHUMG00000130424	ENST00000295888.4:c.9397G>A	4.37:g.85609385C>T	ENSP00000295888:p.Ala3133Thr					WDFY3_ENST00000295888.4_Missense_Mutation_p.A3133T	p.A3116T			Q8IZQ1	WDFY3_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000808)	61	9753	-		Hepatocellular(203;0.114)	3133					Q4W5K5|Q6P0Q5|Q8N1T2|Q8NAV6|Q96BS7|Q96D33|Q96N85|Q9Y2J7	Missense_Mutation	SNP	ENST00000295888.4	37	c.9346G>A	CCDS3609.1	.	.	.	.	.	.	.	.	.	.	C	15.65	2.897564	0.52121	.	.	ENSG00000163625	ENST00000322366;ENST00000295888	T;T	0.60548	0.18;0.18	5.93	4.04	0.47022	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.190497	0.46758	N	0.000267	T	0.41143	0.1146	N	0.21545	0.675	0.32674	N	0.516422	B	0.21688	0.059	B	0.24269	0.052	T	0.51787	-0.8661	10	0.87932	D	0	.	7.1909	0.25824	0.3498:0.5624:0.0:0.0879	.	3133	Q8IZQ1	WDFY3_HUMAN	T	3116;3133	ENSP00000318466:A3116T;ENSP00000295888:A3133T	ENSP00000295888:A3133T	A	-	1	0	WDFY3	85828409	0.997000	0.39634	0.993000	0.49108	0.589000	0.36550	2.958000	0.49145	1.510000	0.48803	-0.157000	0.13467	GCC		0.468	WDFY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252811.2	NM_014991		8	27	0	0	0	1	0	8	27					T	85609385	C	T	85609385	3	4	435	1	0	0	0	0	1	0	0	0	17267	768	27	1	1211	1	WDFY3	4	85609385	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	45168	85609385	105544891	2360	23285											
WDFY3	23001	broad.mit.edu	37	chr4	85611673	85611673	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttacctgtttgagggtgaCggtcttggccttttctttgg	3	18	12	8	1	3	2	0	2	3	0	3	2	3	2	2	4	1	1	2	4	1	6			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:85611673C>T	ENST00000295888.4	-	61	9756	c.9349G>A	c.(9349-9351)Gtc>Atc	p.V3117I	RN7SL552P_ENST00000462094.2_RNA|WDFY3_ENST00000322366.6_Missense_Mutation_p.V3100I	NM_014991.4	NP_055806.2	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	3117	Interaction with ATG5.|Interaction with SQSTM1.				aggrephagy (GO:0035973)|positive regulation of macroautophagy (GO:0016239)	autophagic vacuole (GO:0005776)|cytoplasm (GO:0005737)|extrinsic component of membrane (GO:0019898)|inclusion body (GO:0016234)|nuclear envelope (GO:0005635)|PML body (GO:0016605)	1-phosphatidylinositol binding (GO:0005545)|beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity (GO:0003831)|metal ion binding (GO:0046872)			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		TTGAGGGTGACGGTCTTGGCC	0.498																																						ENST00000322366.6																			0				breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						c.(9298-9300)Gtc>Atc		WD repeat and FYVE domain containing 3							205	173	184					4																	85611673		2203	4300	6503	SO:0001583	missense	23001					cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding	g.chr4:85611673C>T	AB023210	CCDS3609.1	4q21.3	2013-01-09			ENSG00000163625	ENSG00000163625		"Zinc fingers, FYVE domain containing", "WD repeat domain containing"	20751	protein-coding gene	gene with protein product						10231032	Standard	NM_014991		Approved	KIAA0993, ALFY, ZFYVE25	uc003hpd.3	Q8IZQ1	OTTHUMG00000130424	ENST00000295888.4:c.9349G>A	4.37:g.85611673C>T	ENSP00000295888:p.Val3117Ile					WDFY3_ENST00000295888.4_Missense_Mutation_p.V3117I	p.V3100I			Q8IZQ1	WDFY3_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000808)	60	9705	-		Hepatocellular(203;0.114)	3117					Q4W5K5|Q6P0Q5|Q8N1T2|Q8NAV6|Q96BS7|Q96D33|Q96N85|Q9Y2J7	Missense_Mutation	SNP	ENST00000295888.4	37	c.9298G>A	CCDS3609.1	.	.	.	.	.	.	.	.	.	.	C	15.58	2.875351	0.51695	.	.	ENSG00000163625	ENST00000322366;ENST00000295888	T;T	0.28895	1.59;1.59	6.02	5.19	0.71726	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.128776	0.53938	D	0.000056	T	0.20455	0.0492	N	0.11131	0.1	0.30464	N	0.774038	B	0.02656	0.0	B	0.01281	0.0	T	0.06445	-1.0826	10	0.42905	T	0.14	.	17.4372	0.87555	0.0:0.1254:0.8746:0.0	.	3117	Q8IZQ1	WDFY3_HUMAN	I	3100;3117	ENSP00000318466:V3100I;ENSP00000295888:V3117I	ENSP00000295888:V3117I	V	-	1	0	WDFY3	85830697	1.000000	0.71417	0.994000	0.49952	0.714000	0.41099	5.570000	0.67398	1.556000	0.49512	-0.139000	0.14373	GTC		0.498	WDFY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252811.2	NM_014991		15	31	0	0	0	1	0	15	31					T	85611673	C	T	85611673	3	4	435	1	0	0	0	0	1	0	0	0	17267	536	19	1	1263	1	WDFY3	4	85611673	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	2288	85611673	105542603	2361	23286											
WDFY3	23001	broad.mit.edu	37	chr4	85626574	85626574	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atcctcccagtctttataccGcttcttatactgagctaatc	9	15	4	13	1	2	1	0	1	2	0	5	1	4	1	3	0	3	2	3	0	5	7			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:85626574G>A	ENST00000295888.4	-	54	8715	c.8308C>T	c.(8308-8310)Cgg>Tgg	p.R2770W	WDFY3_ENST00000322366.6_Missense_Mutation_p.R2753W	NM_014991.4	NP_055806.2	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	2770	BEACH. {ECO:0000255|PROSITE- ProRule:PRU00026}.|Interaction with SQSTM1.|Sufficient for translocalization to p62 bodies/ALIS.				aggrephagy (GO:0035973)|positive regulation of macroautophagy (GO:0016239)	autophagic vacuole (GO:0005776)|cytoplasm (GO:0005737)|extrinsic component of membrane (GO:0019898)|inclusion body (GO:0016234)|nuclear envelope (GO:0005635)|PML body (GO:0016605)	1-phosphatidylinositol binding (GO:0005545)|beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity (GO:0003831)|metal ion binding (GO:0046872)			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		TCTTTATACCGCTTCTTATAC	0.403																																						ENST00000322366.6																			0				breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						c.(8257-8259)Cgg>Tgg		WD repeat and FYVE domain containing 3							239	209	219					4																	85626574		2203	4300	6503	SO:0001583	missense	23001					cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding	g.chr4:85626574G>A	AB023210	CCDS3609.1	4q21.3	2013-01-09			ENSG00000163625	ENSG00000163625		"Zinc fingers, FYVE domain containing", "WD repeat domain containing"	20751	protein-coding gene	gene with protein product						10231032	Standard	NM_014991		Approved	KIAA0993, ALFY, ZFYVE25	uc003hpd.3	Q8IZQ1	OTTHUMG00000130424	ENST00000295888.4:c.8308C>T	4.37:g.85626574G>A	ENSP00000295888:p.Arg2770Trp					WDFY3_ENST00000295888.4_Missense_Mutation_p.R2770W	p.R2753W			Q8IZQ1	WDFY3_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000808)	53	8664	-		Hepatocellular(203;0.114)	2770			BEACH.		Q4W5K5|Q6P0Q5|Q8N1T2|Q8NAV6|Q96BS7|Q96D33|Q96N85|Q9Y2J7	Missense_Mutation	SNP	ENST00000295888.4	37	c.8257C>T	CCDS3609.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.972481	0.74246	.	.	ENSG00000163625	ENST00000322366;ENST00000295888;ENST00000514711	T;T;T	0.81415	-1.49;-1.49;-1.49	5.64	4.79	0.61399	BEACH domain (4);	0.000000	0.85682	D	0.000000	D	0.93949	0.8063	H	0.98833	4.345	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96365	0.9269	10	0.87932	D	0	.	15.1971	0.73100	0.0:0.0:0.7448:0.2552	.	2770	Q8IZQ1	WDFY3_HUMAN	W	2753;2770;373	ENSP00000318466:R2753W;ENSP00000295888:R2770W;ENSP00000424987:R373W	ENSP00000295888:R2770W	R	-	1	2	WDFY3	85845598	1.000000	0.71417	0.995000	0.50966	0.923000	0.55619	1.620000	0.36976	1.611000	0.50210	0.650000	0.86243	CGG		0.403	WDFY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252811.2	NM_014991		9	99	0	0	0	1	0	9	99					A	85626574	G	A	85626574	3	1	435	1	0	0	0	0	1	0	0	0	17267	1086	38	1	2332	1	WDFY3	4	85626574	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	14901	85626574	105527702	2362	23287											
WDFY3	23001	broad.mit.edu	37	chr4	85731295	85731295	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gagagttggctggctcatagCgcattgctgcagtcaacgtg	8	10	14	9	2	2	1	2	0	0	1	2	2	2	1	0	2	4	6	0	2	2	3	rs370543988		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:85731295C>T	ENST00000295888.4	-	14	2497	c.2090G>A	c.(2089-2091)cGc>cAc	p.R697H	WDFY3-AS1_ENST00000510449.1_RNA|WDFY3_ENST00000322366.6_Missense_Mutation_p.R697H	NM_014991.4	NP_055806.2	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	697					aggrephagy (GO:0035973)|positive regulation of macroautophagy (GO:0016239)	autophagic vacuole (GO:0005776)|cytoplasm (GO:0005737)|extrinsic component of membrane (GO:0019898)|inclusion body (GO:0016234)|nuclear envelope (GO:0005635)|PML body (GO:0016605)	1-phosphatidylinositol binding (GO:0005545)|beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity (GO:0003831)|metal ion binding (GO:0046872)			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		TGGCTCATAGCGCATTGCTGC	0.448																																						ENST00000322366.6																			0				breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						c.(2089-2091)cGc>cAc		WD repeat and FYVE domain containing 3		C	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	98	95	96		2090	6.1	1	4		96	0,8600		0,0,4300	no	missense	WDFY3	NM_014991.4	29	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	697/3527	85731295	1,13005	2203	4300	6503	SO:0001583	missense	23001					cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding	g.chr4:85731295C>T	AB023210	CCDS3609.1	4q21.3	2013-01-09			ENSG00000163625	ENSG00000163625		"Zinc fingers, FYVE domain containing", "WD repeat domain containing"	20751	protein-coding gene	gene with protein product						10231032	Standard	NM_014991		Approved	KIAA0993, ALFY, ZFYVE25	uc003hpd.3	Q8IZQ1	OTTHUMG00000130424	ENST00000295888.4:c.2090G>A	4.37:g.85731295C>T	ENSP00000295888:p.Arg697His					WDFY3_ENST00000295888.4_Missense_Mutation_p.R697H|WDFY3-AS1_ENST00000510449.1_RNA	p.R697H			Q8IZQ1	WDFY3_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000808)	14	2497	-		Hepatocellular(203;0.114)	697					Q4W5K5|Q6P0Q5|Q8N1T2|Q8NAV6|Q96BS7|Q96D33|Q96N85|Q9Y2J7	Missense_Mutation	SNP	ENST00000295888.4	37	c.2090G>A	CCDS3609.1	.	.	.	.	.	.	.	.	.	.	C	27.6	4.850319	0.91277	2.27E-4	0.0	ENSG00000163625	ENST00000322366;ENST00000295888	T;T	0.68181	-0.31;-0.31	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	T	0.76492	0.3995	L	0.33710	1.025	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.983;0.999	T	0.75013	-0.3467	10	0.49607	T	0.09	.	20.6593	0.99626	0.0:1.0:0.0:0.0	.	697;697	E2QRK8;Q8IZQ1	.;WDFY3_HUMAN	H	697	ENSP00000318466:R697H;ENSP00000295888:R697H	ENSP00000295888:R697H	R	-	2	0	WDFY3	85950319	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.380000	0.79704	2.885000	0.99019	0.655000	0.94253	CGC		0.448	WDFY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252811.2	NM_014991		16	44	0	0	0	1	0	16	44					T	85731295	C	T	85731295	3	4	435	1	0	0	0	0	1	0	0	0	17267	768	27	1	8753	1	WDFY3	4	85731295	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	104721	85731295	105422981	2363	23288											
WDFY3	23001	broad.mit.edu	37	chr4	85738568	85738568	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	taaaatatcagtcttcaactGcaattccgtcggtggggctg	10	12	10	9	2	3	0	2	0	1	0	5	0	4	0	1	3	2	2	1	3	5	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:85738568G>A	ENST00000295888.4	-	13	2271	c.1864C>T	c.(1864-1866)Cag>Tag	p.Q622*	WDFY3_ENST00000322366.6_Nonsense_Mutation_p.Q622*	NM_014991.4	NP_055806.2	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	622					aggrephagy (GO:0035973)|positive regulation of macroautophagy (GO:0016239)	autophagic vacuole (GO:0005776)|cytoplasm (GO:0005737)|extrinsic component of membrane (GO:0019898)|inclusion body (GO:0016234)|nuclear envelope (GO:0005635)|PML body (GO:0016605)	1-phosphatidylinositol binding (GO:0005545)|beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity (GO:0003831)|metal ion binding (GO:0046872)			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		GTCTTCAACTGCAATTCCGTC	0.418																																						ENST00000322366.6																			0				breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						c.(1864-1866)Cag>Tag		WD repeat and FYVE domain containing 3							132	136	135					4																	85738568		2203	4300	6503	SO:0001587	stop_gained	23001					cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding	g.chr4:85738568G>A	AB023210	CCDS3609.1	4q21.3	2013-01-09			ENSG00000163625	ENSG00000163625		"Zinc fingers, FYVE domain containing", "WD repeat domain containing"	20751	protein-coding gene	gene with protein product						10231032	Standard	NM_014991		Approved	KIAA0993, ALFY, ZFYVE25	uc003hpd.3	Q8IZQ1	OTTHUMG00000130424	ENST00000295888.4:c.1864C>T	4.37:g.85738568G>A	ENSP00000295888:p.Gln622*					WDFY3_ENST00000295888.4_Nonsense_Mutation_p.Q622*	p.Q622*			Q8IZQ1	WDFY3_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000808)	13	2271	-		Hepatocellular(203;0.114)	622					Q4W5K5|Q6P0Q5|Q8N1T2|Q8NAV6|Q96BS7|Q96D33|Q96N85|Q9Y2J7	Nonsense_Mutation	SNP	ENST00000295888.4	37	c.1864C>T	CCDS3609.1	.	.	.	.	.	.	.	.	.	.	G	42	9.757874	0.99256	.	.	ENSG00000163625	ENST00000322366;ENST00000295888	.	.	.	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.15066	T	0.55	.	19.8108	0.96545	0.0:0.0:1.0:0.0	.	.	.	.	X	622	.	ENSP00000295888:Q622X	Q	-	1	0	WDFY3	85957592	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	7.300000	0.78841	2.698000	0.92095	0.563000	0.77884	CAG		0.418	WDFY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252811.2	NM_014991		6	130	0	0	0	1	0	6	130					A	85738568	G	A	85738568	4	1	435	1	0	0	0	0	0	1	0	0	17267	1328	46	3	8983	3	WDFY3	4	85738568	Nonsense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	7273	85738568	105415708	2364	23289											
ARHGAP24	83478	broad.mit.edu	37	chr4	86916274	86916274	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cgcatgggcattttgaacagCgacacactcgggaaccccac	11	6	10	14	3	0	1	0	1	0	0	1	3	0	2	2	2	3	2	2	2	2	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:86916274C>T	ENST00000395184.1	+	9	1933	c.1467C>T	c.(1465-1467)agC>agT	p.S489S	ARHGAP24_ENST00000395183.2_Silent_p.S394S|ARHGAP24_ENST00000264343.4_Silent_p.S396S	NM_001025616.2	NP_001020787.2	Q8N264	RHG24_HUMAN	Rho GTPase activating protein 24	489					activation of Rac GTPase activity (GO:0032863)|angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of ruffle assembly (GO:1900028)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|wound healing, spreading of epidermal cells (GO:0035313)	cell projection (GO:0042995)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)	Rac GTPase activator activity (GO:0030675)			breast(3)|cervix(1)|endometrium(3)|large_intestine(4)|lung(10)|skin(1)|stomach(1)|urinary_tract(1)	24		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.000571)		TTTTGAACAGCGACACACTCG	0.512																																						ENST00000395184.1																			0				breast(3)|cervix(1)|endometrium(3)|large_intestine(4)|lung(10)|skin(1)|stomach(1)|urinary_tract(1)	24						c.(1465-1467)agC>agT		Rho GTPase activating protein 24							115	110	111					4																	86916274		2203	4300	6503	SO:0001819	synonymous_variant	83478				angiogenesis|cell differentiation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell projection|cytoskeleton|cytosol|focal adhesion	GTPase activator activity|protein binding	g.chr4:86916274C>T	AK091196	CCDS3611.1, CCDS34025.1, CCDS43246.1	4q22.1	2013-01-10			ENSG00000138639	ENSG00000138639		"Rho GTPase activating proteins", "Pleckstrin homology (PH) domain containing"	25361	protein-coding gene	gene with protein product		610586				11230166, 15254788	Standard	NM_001042669		Approved	DKFZP564B1162, FLJ33877, FilGAP	uc003hpk.3	Q8N264	OTTHUMG00000130427	ENST00000395184.1:c.1467C>T	4.37:g.86916274C>T						ARHGAP24_ENST00000264343.4_Silent_p.S396S|ARHGAP24_ENST00000395183.2_Silent_p.S394S	p.S489S	NM_001025616.2	NP_001020787.2	Q8N264	RHG24_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000571)	9	1933	+		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)	489					Q4KMG1|Q6ZNV3|Q86TI5|Q86WE4|Q9H0T6	Silent	SNP	ENST00000395184.1	37	c.1467C>T	CCDS34025.1																																																																																				0.512	ARHGAP24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252815.2	NM_031305		16	35	0	0	0	1	0	16	35					T	86916274	C	T	86916274	2	4	435	1	0	0	0	0	0	0	0	1	873	767	27	1		1	ARHGAP24	4	86916274	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	1177706	86916274	104238002	2365	23290											
KLHL8	57563	broad.mit.edu	37	chr4	88085050	88085050	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctattcagcactggatcaaaCgcttctactgtatttaagta	12	14	6	9	1	3	0	2	0	1	0	3	1	3	1	0	1	3	4	0	1	6	8	rs142229964		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:88085050C>T	ENST00000273963.5	-	9	2060	c.1719G>A	c.(1717-1719)gcG>gcA	p.A573A	KLHL8_ENST00000425278.2_Silent_p.A390A|KLHL8_ENST00000498875.2_Silent_p.A497A|KLHL8_ENST00000512111.1_Silent_p.A573A|KLHL8_ENST00000545252.1_Silent_p.A222A	NM_020803.3	NP_065854.3	Q9P2G9	KLHL8_HUMAN	kelch-like family member 8	573					protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	Cul3-RING ubiquitin ligase complex (GO:0031463)|nucleus (GO:0005634)				breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|stomach(1)|upper_aerodigestive_tract(1)	17		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.000603)		CTGGATCAAACGCTTCTACTG	0.383													C|||	1	0.000199681	8e-04	0	5008	,	,		18611	0		0	False		,,,				2504	0					ENST00000273963.5																			0				breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|stomach(1)|upper_aerodigestive_tract(1)	17						c.(1717-1719)gcG>gcA		kelch-like family member 8		C		0,4406		0,0,2203	198	210	206		1719	-11.4	0.1	4	dbSNP_134	206	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	KLHL8	NM_020803.3		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		573/621	88085050	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	57563							g.chr4:88085050C>T	AB037799	CCDS3617.1, CCDS75163.1	4q21.3	2013-01-30	2013-01-30		ENSG00000145332	ENSG00000145332		"Kelch-like", "BTB/POZ domain containing"	18644	protein-coding gene	gene with protein product		611967	"kelch-like 8 (Drosophila)"				Standard	XM_005263153		Approved	KIAA1378	uc003hql.1	Q9P2G9	OTTHUMG00000130593	ENST00000273963.5:c.1719G>A	4.37:g.88085050C>T						KLHL8_ENST00000498875.2_Silent_p.A497A|KLHL8_ENST00000425278.2_Silent_p.A390A|KLHL8_ENST00000512111.1_Silent_p.A573A|KLHL8_ENST00000545252.1_Silent_p.A222A	p.A573A	NM_020803.3	NP_065854.3	Q9P2G9	KLHL8_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000603)	9	2060	-		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)	573					Q53XA3|Q6N018	Silent	SNP	ENST00000273963.5	37	c.1719G>A	CCDS3617.1																																																																																				0.383	KLHL8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253040.1			55	90	0	0	0	1	0	55	90					T	88085050	C	T	88085050	2	4	435	1	0	0	0	0	0	0	0	1	8395	523	19	1		1	KLHL8	4	88085050	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	1168776	88085050	103069226	2366	23291											
KLHL8	57563	broad.mit.edu	37	chr4	88085121	88085121	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gattttgcccatcactgttgCgattcccactccacctctgg	6	13	7	15	1	2	0	1	0	1	0	4	2	4	0	4	1	2	1	4	1	0	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:88085121C>T	ENST00000273963.5	-	9	1989	c.1648G>A	c.(1648-1650)Gca>Aca	p.A550T	KLHL8_ENST00000425278.2_Missense_Mutation_p.A367T|KLHL8_ENST00000498875.2_Missense_Mutation_p.A474T|KLHL8_ENST00000512111.1_Missense_Mutation_p.A550T|KLHL8_ENST00000545252.1_Missense_Mutation_p.A199T	NM_020803.3	NP_065854.3	Q9P2G9	KLHL8_HUMAN	kelch-like family member 8	550					protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	Cul3-RING ubiquitin ligase complex (GO:0031463)|nucleus (GO:0005634)				breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|stomach(1)|upper_aerodigestive_tract(1)	17		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.000603)		ATCACTGTTGCGATTCCCACT	0.448																																						ENST00000273963.5																			0				breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|stomach(1)|upper_aerodigestive_tract(1)	17						c.(1648-1650)Gca>Aca		kelch-like family member 8							156	153	154					4																	88085121		2203	4300	6503	SO:0001583	missense	57563							g.chr4:88085121C>T	AB037799	CCDS3617.1, CCDS75163.1	4q21.3	2013-01-30	2013-01-30		ENSG00000145332	ENSG00000145332		"Kelch-like", "BTB/POZ domain containing"	18644	protein-coding gene	gene with protein product		611967	"kelch-like 8 (Drosophila)"				Standard	XM_005263153		Approved	KIAA1378	uc003hql.1	Q9P2G9	OTTHUMG00000130593	ENST00000273963.5:c.1648G>A	4.37:g.88085121C>T	ENSP00000273963:p.Ala550Thr					KLHL8_ENST00000498875.2_Missense_Mutation_p.A474T|KLHL8_ENST00000425278.2_Missense_Mutation_p.A367T|KLHL8_ENST00000512111.1_Missense_Mutation_p.A550T|KLHL8_ENST00000545252.1_Missense_Mutation_p.A199T	p.A550T	NM_020803.3	NP_065854.3	Q9P2G9	KLHL8_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000603)	9	1989	-		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)	550					Q53XA3|Q6N018	Missense_Mutation	SNP	ENST00000273963.5	37	c.1648G>A	CCDS3617.1	.	.	.	.	.	.	.	.	.	.	C	19.65	3.866845	0.72065	.	.	ENSG00000145332	ENST00000273963;ENST00000498875;ENST00000425278;ENST00000545252;ENST00000512111	T;T;T;T;T	0.80480	-1.38;-1.38;-1.38;-1.38;-1.38	5.71	4.85	0.62838	Galactose oxidase, beta-propeller (1);	0.260319	0.44285	N	0.000473	D	0.87188	0.6115	L	0.58428	1.81	0.80722	D	1	D;D;D	0.89917	1.0;0.983;0.983	D;P;P	0.77557	0.99;0.547;0.643	D	0.85939	0.1457	10	0.33940	T	0.23	.	15.9607	0.79928	0.1359:0.8641:0.0:0.0	.	367;474;550	Q68DU9;Q6N018;Q9P2G9	.;.;KLHL8_HUMAN	T	550;474;367;199;550	ENSP00000273963:A550T;ENSP00000426451:A474T;ENSP00000408854:A367T;ENSP00000439514:A199T;ENSP00000424131:A550T	ENSP00000273963:A550T	A	-	1	0	KLHL8	88304145	1.000000	0.71417	0.549000	0.28204	0.074000	0.17049	5.684000	0.68197	1.364000	0.46038	0.563000	0.77884	GCA		0.448	KLHL8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253040.1			37	37	0	0	0	1	0	37	37					T	88085121	C	T	88085121	3	4	435	1	0	0	0	0	1	0	0	0	8395	768	27	1	222	1	KLHL8	4	88085121	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	71	88085121	103069155	2367	23292											
DMP1	1758	broad.mit.edu	37	chr4	88584147	88584147	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagagaggagcaagcagacaGcgaatccagtgagagcctca	15	3	13	10	1	1	3	1	1	0	3	2	7	2	4	2	1	4	2	2	1	2	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:88584147G>T	ENST00000339673.6	+	6	1316	c.1217G>T	c.(1216-1218)aGc>aTc	p.S406I	RP11-742B18.1_ENST00000506814.1_RNA|RP11-742B18.1_ENST00000506480.1_RNA|DMP1_ENST00000282479.7_Missense_Mutation_p.S390I|RP11-742B18.1_ENST00000507894.1_RNA	NM_004407.3	NP_004398.1	Q13316	DMP1_HUMAN	dentin matrix acidic phosphoprotein 1	406					biomineral tissue development (GO:0031214)|extracellular matrix organization (GO:0030198)|ossification (GO:0001503)|positive regulation of cell-substrate adhesion (GO:0010811)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|nucleus (GO:0005634)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix binding (GO:0050840)|integrin binding (GO:0005178)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(1)|stomach(1)	32		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.227)		OV - Ovarian serous cystadenocarcinoma(123;0.000516)		CAAGCAGACAGCGAATCCAGT	0.552																																						ENST00000339673.6																			0				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(1)|stomach(1)	32						c.(1216-1218)aGc>aTc		dentin matrix acidic phosphoprotein 1							92	96	95					4																	88584147		2203	4300	6503	SO:0001583	missense	1758				biomineral tissue development|ossification	cytoplasm|nucleus|proteinaceous extracellular matrix	calcium ion binding|integrin binding	g.chr4:88584147G>T	U34037	CCDS3623.1, CCDS43249.1	4q21	2008-08-29	2008-08-29		ENSG00000152592	ENSG00000152592			2932	protein-coding gene	gene with protein product		600980	"dentin matrix acidic phosphoprotein"			8586437, 9177774	Standard	NM_001079911		Approved		uc003hqv.3	Q13316	OTTHUMG00000130598	ENST00000339673.6:c.1217G>T	4.37:g.88584147G>T	ENSP00000340935:p.Ser406Ile					DMP1_ENST00000282479.7_Missense_Mutation_p.S390I|RP11-742B18.1_ENST00000506480.1_RNA|RP11-742B18.1_ENST00000507894.1_RNA	p.S406I	NM_004407.3	NP_004398.1	Q13316	DMP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000516)	6	1316	+		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.227)	406					A1L4L3|O43265	Missense_Mutation	SNP	ENST00000339673.6	37	c.1217G>T	CCDS3623.1	.	.	.	.	.	.	.	.	.	.	G	10.11	1.261354	0.23051	.	.	ENSG00000152592	ENST00000339673;ENST00000282479	T;T	0.54071	0.59;0.59	5.41	5.41	0.78517	.	0.251232	0.35207	N	0.003364	T	0.69842	0.3156	M	0.75447	2.3	0.35084	D	0.763714	D;D	0.89917	1.0;1.0	D;D	0.71184	0.952;0.972	T	0.79647	-0.1716	10	0.87932	D	0	-0.9843	11.7667	0.51935	0.0832:0.0:0.9168:0.0	.	390;406	Q13316-2;Q13316	.;DMP1_HUMAN	I	406;390	ENSP00000340935:S406I;ENSP00000282479:S390I	ENSP00000282479:S390I	S	+	2	0	DMP1	88803171	0.858000	0.29795	0.432000	0.26747	0.003000	0.03518	3.975000	0.56859	2.523000	0.85059	0.655000	0.94253	AGC		0.552	DMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253047.1			22	24	1	0	9.95505e-16	1	1.0907e-15	22	24					T	88584147	G	T	88584147	3	4	435	1	0	0	0	0	1	0	0	0	4583	971	34	5	1235	5	DMP1	4	88584147	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	499026	88584147	102570129	2368	23293											
MEPE	56955	broad.mit.edu	37	chr4	88766450	88766450	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atgaccaagaagaatatggcGcagctctcatcagaaataac	17	7	8	9	1	2	4	2	1	1	3	3	4	2	4	1	1	2	2	1	1	6	2	rs148637496		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:88766450G>A	ENST00000424957.3	+	4	503	c.430G>A	c.(430-432)Gca>Aca	p.A144T	MEPE_ENST00000508016.1_3'UTR|MEPE_ENST00000497649.2_Missense_Mutation_p.A120T|MEPE_ENST00000560249.1_Missense_Mutation_p.A31T|MEPE_ENST00000361056.3_Missense_Mutation_p.A144T|MEPE_ENST00000540395.1_Missense_Mutation_p.A31T|MEPE_ENST00000395102.4_Missense_Mutation_p.A175T	NM_001184694.1	NP_001171623.1	Q9NQ76	MEPE_HUMAN	matrix extracellular phosphoglycoprotein	144					biomineral tissue development (GO:0031214)|negative regulation of bone mineralization (GO:0030502)|regulation of bone remodeling (GO:0046850)|skeletal system development (GO:0001501)	proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)	p.A144T(1)		cervix(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(19)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	36		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000432)		AGAATATGGCGCAGCTCTCAT	0.428													G|||	1	0.000199681	0	0	5008	,	,		17066	0.001		0	False		,,,				2504	0					ENST00000497649.2																			1	Substitution - Missense(1)	p.A144T(1)	large_intestine(1)	cervix(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(19)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	36						c.(358-360)Gca>Aca		matrix extracellular phosphoglycoprotein		G	THR/ALA,THR/ALA,THR/ALA,THR/ALA,THR/ALA	0,4406		0,0,2203	67	66	66		430,91,91,91,430	-6	0	4	dbSNP_134	66	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense,missense	MEPE	NM_001184694.1,NM_001184695.1,NM_001184696.1,NM_001184697.1,NM_020203.3	58,58,58,58,58	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign,benign,benign,benign,benign	144/526,31/413,31/413,31/413,144/526	88766450	1,13005	2203	4300	6503	SO:0001583	missense	56955				skeletal system development	proteinaceous extracellular matrix	extracellular matrix structural constituent|protein binding	g.chr4:88766450G>A	AJ276396	CCDS3625.1, CCDS54776.1	4q21.1	2008-08-29	2008-08-29		ENSG00000152595	ENSG00000152595			13361	protein-coding gene	gene with protein product		605912	"matrix, extracellular phosphoglycoprotein with ASARM motif (bone)"			10945470	Standard	NM_020203		Approved		uc003hqy.3	Q9NQ76	OTTHUMG00000130592	ENST00000424957.3:c.430G>A	4.37:g.88766450G>A	ENSP00000416984:p.Ala144Thr					MEPE_ENST00000424957.3_Missense_Mutation_p.A144T|MEPE_ENST00000560249.1_Missense_Mutation_p.A31T|MEPE_ENST00000508016.1_3'UTR|MEPE_ENST00000361056.3_Missense_Mutation_p.A144T|MEPE_ENST00000540395.1_Missense_Mutation_p.A31T|MEPE_ENST00000395102.4_Missense_Mutation_p.A175T	p.A120T			Q9NQ76	MEPE_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000432)	6	736	+		Hepatocellular(203;0.114)	144					A1A4X9|A8MTA3|D2CFR4|F5H5C5	Missense_Mutation	SNP	ENST00000424957.3	37	c.358G>A	CCDS3625.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	8.965	0.971637	0.18736	0.0	1.16E-4	ENSG00000152595	ENST00000535138;ENST00000424957;ENST00000395102;ENST00000497649;ENST00000540395;ENST00000361056	T;T;T;T;T	0.53423	4.37;0.63;0.62;0.66;4.37	4.84	-6.02	0.02192	.	1.188580	0.06056	N	0.657516	T	0.23846	0.0577	L	0.33624	1.015	0.09310	N	1	P	0.38711	0.643	B	0.27715	0.082	T	0.14476	-1.0471	10	0.19147	T	0.46	-0.0246	4.3233	0.11027	0.5714:0.1098:0.2076:0.1112	.	144	Q9NQ76	MEPE_HUMAN	T	144;144;175;120;31;144	ENSP00000416984:A144T;ENSP00000378534:A175T;ENSP00000422747:A120T;ENSP00000443491:A31T;ENSP00000354341:A144T	ENSP00000354341:A144T	A	+	1	0	MEPE	88985474	0.000000	0.05858	0.000000	0.03702	0.016000	0.09150	-0.239000	0.08965	-1.469000	0.01890	-0.829000	0.03081	GCA		0.428	MEPE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253038.1			17	30	0	0	0	1	0	17	30					A	88766450	G	A	88766450	3	1	435	1	0	0	0	0	1	0	0	0	9478	1087	38	1	440	1	MEPE	4	88766450	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	182303	88766450	102387826	2369	23294											
ABCG2	9429	broad.mit.edu	37	chr4	89052995	89052995	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tacatttgaaattggcaggtCgcggtgctccatttatcaga	10	13	10	8	2	1	2	1	1	0	1	3	2	2	2	1	3	2	2	1	3	3	5	rs199578838		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:89052995C>T	ENST00000237612.3	-	4	883	c.338G>A	c.(337-339)cGa>cAa	p.R113Q	ABCG2_ENST00000515655.1_Missense_Mutation_p.R113Q	NM_004827.2	NP_004818.2	Q9UNQ0	ABCG2_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 2 (Junior blood group)	113	ABC transporter. {ECO:0000255|PROSITE- ProRule:PRU00434}.				cellular iron ion homeostasis (GO:0006879)|drug export (GO:0046618)|drug transmembrane transport (GO:0006855)|embryonic process involved in female pregnancy (GO:0060136)|heme transport (GO:0015886)|response to drug (GO:0042493)|response to folic acid (GO:0051593)|response to glucocorticoid (GO:0051384)|response to iron ion (GO:0010039)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)|urate metabolic process (GO:0046415)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|heme transporter activity (GO:0015232)|protein homodimerization activity (GO:0042803)|transporter activity (GO:0005215)|xenobiotic-transporting ATPase activity (GO:0008559)			breast(5)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(13)|lung(10)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	42		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;7.02e-05)	Afatinib(DB08916)|Apixaban(DB06605)|Buprenorphine(DB00921)|Cabazitaxel(DB06772)|Carboplatin(DB00958)|Cisplatin(DB00515)|Cladribine(DB00242)|Clofarabine(DB00631)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Dabrafenib(DB08912)|Dactinomycin(DB00970)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Dexamethasone(DB01234)|Diethylstilbestrol(DB00255)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Dronabinol(DB00470)|Erlotinib(DB00530)|Estradiol(DB00783)|Estrone(DB00655)|Etoposide(DB00773)|Ezetimibe(DB00973)|Fluorouracil(DB00544)|Folic Acid(DB00158)|Gefitinib(DB00317)|Glyburide(DB01016)|Hesperetin(DB01094)|Hydrocortisone(DB00741)|Imatinib(DB00619)|Irinotecan(DB00762)|Ivermectin(DB00602)|Lamivudine(DB00709)|Lansoprazole(DB00448)|Leflunomide(DB01097)|Methotrexate(DB00563)|Mitoxantrone(DB01204)|Mycophenolate mofetil(DB00688)|Nelfinavir(DB00220)|Nilotinib(DB04868)|Nitrofurantoin(DB00698)|Novobiocin(DB01051)|Omeprazole(DB00338)|Oxaliplatin(DB00526)|Paclitaxel(DB01229)|Pantoprazole(DB00213)|Pazopanib(DB06589)|Pitavastatin(DB08860)|Ponatinib(DB08901)|Pravastatin(DB00175)|Prazosin(DB00457)|Rabeprazole(DB01129)|Regorafenib(DB08896)|Rilpivirine(DB08864)|Riluzole(DB00740)|Ritonavir(DB00503)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Sorafenib(DB00398)|Sulfasalazine(DB00795)|Sumatriptan(DB00669)|Sunitinib(DB01268)|Tamoxifen(DB00675)|Telmisartan(DB00966)|Teniposide(DB00444)|Teriflunomide(DB08880)|Testosterone(DB00624)|Topotecan(DB01030)|Vandetanib(DB05294)|Vemurafenib(DB08881)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vincristine(DB00541)|Vismodegib(DB08828)|Zafirlukast(DB00549)|Zidovudine(DB00495)	ATTGGCAGGTCGCGGTGCTCC	0.393																																						ENST00000237612.3																			0				breast(5)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(13)|lung(10)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	42						c.(337-339)cGa>cAa		ATP-binding cassette, sub-family G (WHITE), member 2	Imatinib(DB00619)|Mitoxantrone(DB01204)|Nicardipine(DB00622)|Nitrendipine(DB01054)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Topotecan(DB01030)						98	91	93					4																	89052995		2203	4300	6503	SO:0001583	missense	9429				cellular iron ion homeostasis|urate metabolic process	integral to membrane|plasma membrane	ATP binding|heme transporter activity|protein homodimerization activity|xenobiotic-transporting ATPase activity	g.chr4:89052995C>T	AF103796	CCDS3628.1, CCDS58910.1	4q22.1	2014-08-27	2014-08-27		ENSG00000118777	ENSG00000118777		"CD molecules", "ATP binding cassette transporters / subfamily G"	74	protein-coding gene	gene with protein product		603756	"ATP-binding cassette, sub-family G (WHITE), member 2"			8894702, 9861027	Standard	NM_001257386		Approved	EST157481, MXR, BCRP, ABCP, CD338	uc003hrg.3	Q9UNQ0	OTTHUMG00000130601	ENST00000237612.3:c.338G>A	4.37:g.89052995C>T	ENSP00000237612:p.Arg113Gln					ABCG2_ENST00000515655.1_Missense_Mutation_p.R113Q	p.R113Q	NM_004827.2	NP_004818.2	Q9UNQ0	ABCG2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;7.02e-05)	4	883	-		Hepatocellular(203;0.114)	113			ABC transporter.		A0A1W3|A8K1T5|O95374|Q4W5I3|Q53ZQ1|Q569L4|Q5YLG4|Q86V64|Q8IX16|Q96LD6|Q96TA8|Q9BY73|Q9NUS0	Missense_Mutation	SNP	ENST00000237612.3	37	c.338G>A	CCDS3628.1	.	.	.	.	.	.	.	.	.	.	C	8.940	0.965615	0.18583	.	.	ENSG00000118777	ENST00000515655;ENST00000237612	D;D	0.93712	-3.27;-3.27	5.42	0.583	0.17417	ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.179846	0.50627	N	0.000109	D	0.82917	0.5141	N	0.17082	0.46	0.27922	N	0.93821	B;B	0.15719	0.014;0.009	B;B	0.11329	0.006;0.003	T	0.68153	-0.5484	10	0.14656	T	0.56	3.9295	7.2445	0.26114	0.0:0.345:0.0:0.655	.	113;113	Q9UNQ0-2;Q9UNQ0	.;ABCG2_HUMAN	Q	113	ENSP00000426917:R113Q;ENSP00000237612:R113Q	ENSP00000237612:R113Q	R	-	2	0	ABCG2	89272019	0.972000	0.33761	0.634000	0.29324	0.258000	0.26162	1.310000	0.33551	0.209000	0.20645	0.655000	0.94253	CGA		0.393	ABCG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253051.1	NM_004827		14	17	0	0	0	1	0	14	17					T	89052995	C	T	89052995	3	4	435	1	0	0	0	0	1	0	0	0	69	884	31	2	1681	2	ABCG2	4	89052995	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	286545	89052995	102101281	2370	23295											
PPM1K	152926	broad.mit.edu	37	chr4	89199518	89199518	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggtggcagcagaattggcTcatcaatgcggttatcccag	9	10	13	9	1	2	1	2	0	0	1	3	1	3	1	1	4	2	4	1	4	3	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:89199518T>C	ENST00000608933.1	-	2	607	c.218A>G	c.(217-219)gAg>gGg	p.E73G	PPM1K_ENST00000508256.1_Intron|PPM1K_ENST00000315194.4_Missense_Mutation_p.E73G|PPM1K_ENST00000295908.7_Missense_Mutation_p.E73G|PPM1K_ENST00000514204.1_Missense_Mutation_p.E73G|PPM1K_ENST00000506423.1_5'UTR	NM_152542.4	NP_689755.3	Q8N3J5	PPM1K_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1K	73					protein dephosphorylation (GO:0006470)	mitochondrion (GO:0005739)	metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)			endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(1)	13		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000192)		CAGAATTGGCTCATCAATGCG	0.507																																						ENST00000295908.6																			0				endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(1)	13						c.(217-219)gAg>gGg		protein phosphatase, Mg2+/Mn2+ dependent, 1K							89	86	87					4																	89199518		2203	4300	6503	SO:0001583	missense	152926				protein dephosphorylation	mitochondrial matrix|protein serine/threonine phosphatase complex	metal ion binding|protein serine/threonine phosphatase activity	g.chr4:89199518T>C	BC037552	CCDS3629.1	4q22.1	2012-04-17	2010-03-05		ENSG00000163644	ENSG00000163644	3.1.3.16	"Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"	25415	protein-coding gene	gene with protein product	"PP2C-type mitochondrial phosphoprotein phosphatase", "protein phosphatase 2C kappa", "branched-chain &#945;-ketoacid dehydrogenase phosphatase"	611065	"protein phosphatase 1K (PP2C domain containing)"			22291014	Standard	NM_152542		Approved	DKFZp761G058, PP2Ckappa, hPTMP, PP2Cm, BDP	uc003hrm.5	Q8N3J5	OTTHUMG00000130952	ENST00000608933.1:c.218A>G	4.37:g.89199518T>C	ENSP00000477341:p.Glu73Gly					PPM1K_ENST00000513546.2_5'UTR|PPM1K_ENST00000506423.1_Missense_Mutation_p.E73G|PPM1K_ENST00000315194.4_Missense_Mutation_p.E73G	p.E73G	NM_152542.3	NP_689755.3	Q8N3J5	PPM1K_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000192)	2	607	-		Hepatocellular(203;0.114)	73					B2RAZ1|Q05CT5|Q49AB5|Q4W5E6|Q56AN8|Q8IUZ7|Q8IXG7|Q8ND70|Q96NT4	Missense_Mutation	SNP	ENST00000608933.1	37	c.218A>G	CCDS3629.1	.	.	.	.	.	.	.	.	.	.	T	19.14	3.769355	0.69992	.	.	ENSG00000163644	ENST00000295908;ENST00000506423;ENST00000315194	T;T;T	0.56275	1.79;0.47;0.47	4.2	4.2	0.49525	Protein phosphatase 2C-like (1);	0.000000	0.85682	D	0.000000	T	0.69557	0.3124	M	0.69823	2.125	0.80722	D	1	D;D;P	0.89917	0.998;1.0;0.915	D;D;B	0.85130	0.972;0.997;0.392	T	0.73040	-0.4108	10	0.62326	D	0.03	-20.8661	12.7192	0.57131	0.0:0.0:0.0:1.0	.	73;73;73	Q8N3J5-2;Q8N3J5-3;Q8N3J5	.;.;PPM1K_HUMAN	G	73	ENSP00000295908:E73G;ENSP00000424155:E73G;ENSP00000324761:E73G	ENSP00000295908:E73G	E	-	2	0	PPM1K	89418542	1.000000	0.71417	0.999000	0.59377	0.981000	0.71138	6.014000	0.70784	1.903000	0.55091	0.260000	0.18958	GAG		0.507	PPM1K-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253553.4	NM_152542		10	21	0	0	0	1	0	10	21					C	89199518	T	C	89199518	3	2	435	1	0	0	0	0	1	0	0	0	12343	1551	54	4	924	4	PPM1K	4	89199518	Missense_Mutation	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	146523	89199518	101954758	2371	23296											
HERC6	55008	broad.mit.edu	37	chr4	89363501	89363501	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccaacatcaataacttgtcaTaatattctctccctccctaa	13	13	1	14	0	3	0	2	0	1	0	6	0	5	0	3	0	2	0	3	0	6	6			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:89363501T>C	ENST00000264346.7	+	23	3017	c.2958T>C	c.(2956-2958)caT>caC	p.H986H	HERC6_ENST00000380265.5_Silent_p.H950H	NM_017912.3	NP_060382.3	Q8IVU3	HERC6_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 6	986	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				hematopoietic progenitor cell differentiation (GO:0002244)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)	11		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000222)		TAACTTGTCATAATATTCTCT	0.408																																						ENST00000380265.5																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)	11						c.(2848-2850)caT>caC		HECT and RLD domain containing E3 ubiquitin protein ligase family member 6							82	81	82					4																	89363501		1964	4157	6121	SO:0001819	synonymous_variant	55008				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytosol	ubiquitin-protein ligase activity	g.chr4:89363501T>C	AF336798	CCDS47098.1, CCDS54777.1	4q22	2012-02-23	2012-02-23		ENSG00000138642	ENSG00000138642			26072	protein-coding gene	gene with protein product		609249	"hect domain and RLD 6"				Standard	NM_001165136		Approved	FLJ20637	uc011cdi.2	Q8IVU3	OTTHUMG00000160983	ENST00000264346.7:c.2958T>C	4.37:g.89363501T>C						HERC6_ENST00000264346.7_Silent_p.H986H	p.H950H	NM_001165136.1	NP_001158608.1	Q8IVU3	HERC6_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000222)	22	3033	+		Hepatocellular(203;0.114)	986			HECT.		B4DIY5|Q5GC90|Q5GRH3|Q5HYM6|Q5JPB6|Q6PIF4|Q8NAN3|Q9NWS4	Silent	SNP	ENST00000264346.7	37	c.2850T>C	CCDS47098.1																																																																																				0.408	HERC6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000363259.2			9	10	0	0	0	1	0	9	10					C	89363501	T	C	89363501	2	2	435	1	0	0	0	0	0	0	0	1	7062	1403	49	4		4	HERC6	4	89363501	Silent	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	163983	89363501	101790775	2372	23297											
HERC3	8916	broad.mit.edu	37	chr4	89574198	89574198	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tcaggagctgtttttggctgGgggatgaataatgccgggca	8	11	16	6	1	1	1	1	1	0	0	1	3	1	3	1	5	2	4	1	5	2	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:89574198G>A	ENST00000402738.1	+	6	881	c.642G>A	c.(640-642)tgG>tgA	p.W214*	HERC3_ENST00000264345.3_Nonsense_Mutation_p.W214*|HERC3_ENST00000407637.1_Nonsense_Mutation_p.W214*	NM_001271602.1|NM_014606.1	NP_001258531.1|NP_055421.1	Q15034	HERC3_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 3	214					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasmic vesicle (GO:0031410)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|prostate(2)|skin(2)	45				OV - Ovarian serous cystadenocarcinoma(123;0.000319)		TTTTTGGCTGGGGGATGAATA	0.507																																						ENST00000402738.1																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|prostate(2)|skin(2)	45						c.(640-642)tgG>tgA		HECT and RLD domain containing E3 ubiquitin protein ligase 3							65	74	71					4																	89574198		2203	4300	6503	SO:0001587	stop_gained	8916				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasmic membrane-bounded vesicle	ubiquitin-protein ligase activity	g.chr4:89574198G>A	D25215	CCDS34028.1	4q21	2012-02-23	2012-02-23		ENSG00000138641	ENSG00000138641			4876	protein-coding gene	gene with protein product		605200	"hect domain and RLD 3"			10702688	Standard	NM_014606		Approved	KIAA0032	uc003hrw.2	Q15034	OTTHUMG00000150436	ENST00000402738.1:c.642G>A	4.37:g.89574198G>A	ENSP00000385684:p.Trp214*					HERC3_ENST00000407637.1_Nonsense_Mutation_p.W214*|HERC3_ENST00000264345.3_Nonsense_Mutation_p.W214*	p.W214*	NM_001271602.1|NM_014606.1	NP_001258531.1|NP_055421.1	Q15034	HERC3_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000319)	6	881	+			214					A8K1S5|Q8IXX3	Nonsense_Mutation	SNP	ENST00000402738.1	37	c.642G>A	CCDS34028.1	.	.	.	.	.	.	.	.	.	.	g	36	5.766006	0.96914	.	.	ENSG00000138641	ENST00000402738;ENST00000407637;ENST00000452979;ENST00000264345	.	.	.	5.09	5.09	0.68999	.	0.121898	0.64402	D	0.000012	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	18.677	0.91532	0.0:0.0:1.0:0.0	.	.	.	.	X	214	.	ENSP00000264345:W214X	W	+	3	0	HERC3	89793221	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.260000	0.95568	2.639000	0.89480	0.586000	0.80456	TGG		0.507	HERC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318081.2	NM_014606		17	28	0	0	0	1	0	17	28					A	89574198	G	A	89574198	4	1	435	1	0	0	0	0	0	1	0	0	7059	1241	43	3	656	3	HERC3	4	89574198	Nonsense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	210697	89574198	101580078	2373	23298											
TIGD2	166815	broad.mit.edu	37	chr4	90034372	90034372	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	acgaggagcttgatagagttAtgatagagtggtttaaccaa	14	11	12	4	1	0	4	0	2	0	2	0	6	0	5	1	2	2	3	1	2	5	6			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:90034372A>G	ENST00000317005.2	+	1	405	c.247A>G	c.(247-249)Atg>Gtg	p.M83V	RP11-84C13.1_ENST00000603357.1_lincRNA|FAM13A_ENST00000502459.1_5'Flank	NM_145715.2	NP_663761.1	Q4W5G0	TIGD2_HUMAN	tigger transposable element derived 2	83	HTH CENPB-type. {ECO:0000255|PROSITE- ProRule:PRU00583}.					nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	14		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;3.86e-05)		TGATAGAGTTATGATAGAGTG	0.388																																						ENST00000317005.2																			0				breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	14						c.(247-249)Atg>Gtg		tigger transposable element derived 2							117	114	115					4																	90034372		2203	4300	6503	SO:0001583	missense	166815				regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	DNA binding	g.chr4:90034372A>G	AK027653	CCDS3633.1	4q21.3	2013-02-21			ENSG00000180346	ENSG00000180346			18333	protein-coding gene	gene with protein product		612973					Standard	NM_145715		Approved		uc003hsk.3	Q4W5G0	OTTHUMG00000130946	ENST00000317005.2:c.247A>G	4.37:g.90034372A>G	ENSP00000317170:p.Met83Val						p.M83V	NM_145715.2	NP_663761.1	Q4W5G0	TIGD2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;3.86e-05)	1	405	+		Hepatocellular(203;0.114)	83			HTH CENPB-type.			Missense_Mutation	SNP	ENST00000317005.2	37	c.247A>G	CCDS3633.1	.	.	.	.	.	.	.	.	.	.	a	11.68	1.710823	0.30322	.	.	ENSG00000180346	ENST00000317005	T	0.18810	2.19	3.9	2.72	0.32119	Homeodomain-related (1);Pogo transposase / Cenp-B / PDC2, DNA-binding HTH domain (3);Homeodomain-like (1);	0.000000	0.50627	U	0.000118	T	0.22551	0.0544	N	0.20986	0.625	0.23249	N	0.998042	P	0.48162	0.906	P	0.62560	0.904	T	0.04281	-1.0963	10	0.36615	T	0.2	.	3.9265	0.09265	0.6678:0.2166:0.1156:0.0	.	83	Q4W5G0	TIGD2_HUMAN	V	83	ENSP00000317170:M83V	ENSP00000317170:M83V	M	+	1	0	TIGD2	90253395	1.000000	0.71417	0.811000	0.32455	0.963000	0.63663	1.484000	0.35508	0.579000	0.29504	0.451000	0.29950	ATG		0.388	TIGD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253545.2	NM_145715		38	56	0	0	0	1	0	38	56					G	90034372	A	G	90034372	3	3	435	1	0	0	0	0	1	0	0	0	15893	449	16	4	249	4	TIGD2	4	90034372	Missense_Mutation	SNP	A	TCGA-XK-AAIW-01A-11D-A41K-08	460174	90034372	101119904	2374	23299											
MMRN1	22915	broad.mit.edu	37	chr4	90856978	90856978	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgatgatgccttagaaagacGtatcaatgaatatgccttag	14	12	9	6	1	1	5	1	3	0	2	1	5	1	5	2	0	2	1	2	0	7	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:90856978G>A	ENST00000394980.1	+	7	2466	c.2147G>A	c.(2146-2148)cGt>cAt	p.R716H	MMRN1_ENST00000264790.2_Missense_Mutation_p.R716H|MMRN1_ENST00000508372.1_Missense_Mutation_p.R458H|MMRN1_ENST00000394981.1_Intron			Q13201	MMRN1_HUMAN	multimerin 1	716					blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|platelet alpha granule lumen (GO:0031093)				breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|liver(2)|lung(34)|ovary(5)|prostate(1)|skin(6)|stomach(1)|urinary_tract(2)	72		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)		TTAGAAAGACGTATCAATGAA	0.313																																						ENST00000394980.1																			0				breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|liver(2)|lung(34)|ovary(5)|prostate(1)|skin(6)|stomach(1)|urinary_tract(2)	72						c.(2146-2148)cGt>cAt		multimerin 1							76	77	77					4																	90856978		2201	4295	6496	SO:0001583	missense	22915				cell adhesion|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen		g.chr4:90856978G>A	U27109	CCDS3635.1	4q22	2008-02-05	2004-03-02	2004-03-02	ENSG00000138722	ENSG00000138722		"EMI domain containing"	7178	protein-coding gene	gene with protein product	"glycoprotein Ia*"	601456	"multimerin"	MMRN		7629143, 10828608	Standard	NM_007351		Approved	ECM, EMILIN4, GPIa*	uc003hst.3	Q13201	OTTHUMG00000130947	ENST00000394980.1:c.2147G>A	4.37:g.90856978G>A	ENSP00000378431:p.Arg716His					MMRN1_ENST00000394981.1_Intron|MMRN1_ENST00000264790.2_Missense_Mutation_p.R716H|MMRN1_ENST00000508372.1_Missense_Mutation_p.R458H	p.R716H			Q13201	MMRN1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)	7	2466	+		Hepatocellular(203;0.114)	716					Q4W5L1|Q6P3T8|Q6ZUL9	Missense_Mutation	SNP	ENST00000394980.1	37	c.2147G>A	CCDS3635.1	.	.	.	.	.	.	.	.	.	.	G	11.11	1.543590	0.27563	.	.	ENSG00000138722	ENST00000394980;ENST00000264790;ENST00000508372	T;T;T	0.67698	0.04;0.04;-0.28	5.2	4.36	0.52297	.	0.155264	0.41294	N	0.000917	T	0.56819	0.2011	L	0.54323	1.7	0.80722	D	1	B	0.28850	0.225	B	0.20184	0.028	T	0.56013	-0.8049	10	0.37606	T	0.19	.	9.2351	0.37461	0.2132:0.0:0.7868:0.0	.	716	Q13201	MMRN1_HUMAN	H	716;716;458	ENSP00000378431:R716H;ENSP00000264790:R716H;ENSP00000426461:R458H	ENSP00000264790:R716H	R	+	2	0	MMRN1	91076001	0.105000	0.21958	0.729000	0.30791	0.865000	0.49528	1.266000	0.33039	1.513000	0.48852	0.655000	0.94253	CGT		0.313	MMRN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253546.2	NM_007351		19	23	0	0	0	1	0	19	23					A	90856978	G	A	90856978	3	1	435	1	0	0	0	0	1	0	0	0	9670	1145	40	1	2169	1	MMRN1	4	90856978	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	822606	90856978	100297298	2375	23300											
GRID2	2895	broad.mit.edu	37	chr4	94344062	94344062	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtagcaccggatcacaaataCggaagcccacaagaagatgg	16	4	11	10	2	1	2	1	0	0	2	1	4	1	4	2	3	3	2	2	3	6	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:94344062C>T	ENST00000282020.4	+	10	1746	c.1488C>T	c.(1486-1488)taC>taT	p.Y496Y	GRID2_ENST00000510992.1_Silent_p.Y401Y	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	496					cellular protein localization (GO:0034613)|cerebellar granule cell differentiation (GO:0021707)|glutamate receptor signaling pathway (GO:0007215)|heterophilic cell-cell adhesion (GO:0007157)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|prepulse inhibition (GO:0060134)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of neuron apoptotic process (GO:0043523)|regulation of neuron projection development (GO:0010975)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|ionotropic glutamate receptor complex (GO:0008328)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|ionotropic glutamate receptor activity (GO:0004970)|PDZ domain binding (GO:0030165)|scaffold protein binding (GO:0097110)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)		ATCACAAATACGGAAGCCCAC	0.393																																						ENST00000282020.4																			0				NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100						c.(1486-1488)taC>taT		glutamate receptor, ionotropic, delta 2	L-Glutamic Acid(DB00142)						115	116	116					4																	94344062		2203	4300	6503	SO:0001819	synonymous_variant	2895				glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity	g.chr4:94344062C>T	AF009014	CCDS3637.1, CCDS68758.1	4q22	2012-08-29			ENSG00000152208	ENSG00000152208		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4576	protein-coding gene	gene with protein product		602368				9465309	Standard	NM_001510		Approved	GluD2, GluR-delta-2	uc011cdt.2	O43424	OTTHUMG00000130975	ENST00000282020.4:c.1488C>T	4.37:g.94344062C>T						GRID2_ENST00000510992.1_Silent_p.Y401Y	p.Y496Y	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	10	1746	+		Hepatocellular(203;0.114)|all_hematologic(202;0.177)	496					E9PH24|Q4KKU8|Q4KKU9|Q4KKV0|Q59FZ1	Silent	SNP	ENST00000282020.4	37	c.1488C>T	CCDS3637.1																																																																																				0.393	GRID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253588.2			13	22	0	0	0	1	0	13	22					T	94344062	C	T	94344062	2	4	435	1	0	0	0	0	0	0	0	1	6772	547	19	1		1	GRID2	4	94344062	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	3487084	94344062	96810214	2376	23301											
SMARCAD1	56916	broad.mit.edu	37	chr4	95186038	95186038	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gtggatggaacatagaacaaCcttccattctaaaccaaagg	16	8	8	9	0	1	1	0	0	1	1	2	3	2	3	3	3	4	0	3	3	7	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:95186038C>T	ENST00000354268.4	+	10	1535	c.1462C>T	c.(1462-1464)Cct>Tct	p.P488S	SMARCAD1_ENST00000457823.2_Missense_Mutation_p.P488S|SMARCAD1_ENST00000509418.1_Missense_Mutation_p.P58S			Q9H4L7	SMRCD_HUMAN	SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1	488					ATP-dependent chromatin remodeling (GO:0043044)|chromatin modification (GO:0016568)|chromatin remodeling (GO:0006338)|chromosome separation (GO:0051304)|DNA double-strand break processing (GO:0000729)|histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|nucleotide metabolic process (GO:0009117)|positive regulation of transcription, DNA-templated (GO:0045893)|protein homooligomerization (GO:0051260)|regulation of DNA recombination (GO:0000018)	heterochromatin (GO:0000792)|nuclear matrix (GO:0016363)|nuclear replication fork (GO:0043596)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|liver(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	44				OV - Ovarian serous cystadenocarcinoma(123;4.33e-08)		CATAGAACAACCTTCCATTCT	0.303																																						ENST00000354268.4																			0				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|liver(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						c.(1462-1464)Cct>Tct		SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1							68	64	65					4																	95186038		2202	4298	6500	SO:0001583	missense	56916				chromatin modification|nucleotide metabolic process|positive regulation of transcription, DNA-dependent|protein homooligomerization|regulation of DNA recombination	nuclear matrix	ATP binding|DNA binding|helicase activity	g.chr4:95186038C>T	AB032948	CCDS3639.1, CCDS47101.1, CCDS58914.1	4q22-q23	2008-02-05			ENSG00000163104	ENSG00000163104			18398	protein-coding gene	gene with protein product		612761				11031099	Standard	NM_001128430		Approved	ETL1, DKFZP762K2015, KIAA1122, DKFZp762K2015	uc003htb.4	Q9H4L7	OTTHUMG00000130971	ENST00000354268.4:c.1462C>T	4.37:g.95186038C>T	ENSP00000346217:p.Pro488Ser					SMARCAD1_ENST00000509418.1_Missense_Mutation_p.P58S|SMARCAD1_ENST00000457823.2_Missense_Mutation_p.P488S	p.P488S			Q9H4L7	SMRCD_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;4.33e-08)	10	1535	+			488					B7Z799|Q05D56|Q96SX1|Q9H017|Q9H860|Q9NPU9|Q9ULU7	Missense_Mutation	SNP	ENST00000354268.4	37	c.1462C>T	CCDS3639.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.209836	0.79240	.	.	ENSG00000163104	ENST00000359052;ENST00000457823;ENST00000354268;ENST00000509418	D;D;D;D	0.92699	-2.87;-2.87;-2.89;-3.09	5.85	5.85	0.93711	.	0.000000	0.47455	D	0.000230	D	0.95987	0.8693	M	0.76170	2.325	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.76071	0.971;0.987	D	0.94863	0.8023	10	0.42905	T	0.14	-9.9988	20.1649	0.98147	0.0:1.0:0.0:0.0	.	488;488	Q9H4L7;Q9H4L7-2	SMRCD_HUMAN;.	S	488;488;488;58	ENSP00000351947:P488S;ENSP00000415576:P488S;ENSP00000346217:P488S;ENSP00000423286:P58S	ENSP00000346217:P488S	P	+	1	0	SMARCAD1	95405061	1.000000	0.71417	0.969000	0.41365	0.845000	0.48019	6.268000	0.72552	2.753000	0.94483	0.655000	0.94253	CCT		0.303	SMARCAD1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253583.1	NM_020159		5	49	0	0	0	1	0	5	49					T	95186038	C	T	95186038	3	4	435	1	0	0	0	0	1	0	0	0	14772	507	18	3	1496	3	SMARCAD1	4	95186038	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	841976	95186038	95968238	2377	23302											
PDLIM5	10611	broad.mit.edu	37	chr4	95575717	95575717	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatttgtagaggagaaaggaGccctgtattgtgagctgtgc	10	11	15	5	0	0	3	0	1	0	2	0	6	0	4	1	2	3	3	1	2	3	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:95575717G>A	ENST00000317968.4	+	10	1526	c.1390G>A	c.(1390-1392)Gcc>Acc	p.A464T	PDLIM5_ENST00000514743.1_Missense_Mutation_p.A493T|PDLIM5_ENST00000542407.1_Missense_Mutation_p.A342T|PDLIM5_ENST00000437932.1_Missense_Mutation_p.A355T|PDLIM5_ENST00000380176.3_3'UTR	NM_001256428.1|NM_006457.4	NP_001243357.1|NP_006448	Q96HC4	PDLI5_HUMAN	PDZ and LIM domain 5	464	LIM zinc-binding 1. {ECO:0000255|PROSITE- ProRule:PRU00125}.				regulation of dendritic spine morphogenesis (GO:0061001)|regulation of synapse assembly (GO:0051963)	actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|cytosol (GO:0005829)|membrane (GO:0016020)|neuron projection (GO:0043005)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	actin binding (GO:0003779)|actinin binding (GO:0042805)|protein kinase C binding (GO:0005080)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	22		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.84e-09)		GGAGAAAGGAGCCCTGTATTG	0.433																																						ENST00000317968.4																			0				central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	22						c.(1390-1392)Gcc>Acc		PDZ and LIM domain 5							136	137	136					4																	95575717		2203	4300	6503	SO:0001583	missense	10611				regulation of dendritic spine morphogenesis|regulation of synaptogenesis	actin cytoskeleton|cell junction|cytosol|postsynaptic density|postsynaptic membrane|synaptosome	actin binding|actinin binding|protein kinase C binding|zinc ion binding	g.chr4:95575717G>A	AF061258	CCDS3641.1, CCDS47103.1, CCDS47104.1, CCDS58915.1, CCDS58916.1, CCDS58917.1, CCDS75166.1	4q22	2006-04-12			ENSG00000163110	ENSG00000163110			17468	protein-coding gene	gene with protein product		605904				15346770	Standard	NM_006457		Approved	LIM, Enh	uc003htk.4	Q96HC4	OTTHUMG00000130973	ENST00000317968.4:c.1390G>A	4.37:g.95575717G>A	ENSP00000321746:p.Ala464Thr					PDLIM5_ENST00000542407.1_Missense_Mutation_p.A342T|PDLIM5_ENST00000514743.1_Missense_Mutation_p.A493T|PDLIM5_ENST00000380176.3_3'UTR|PDLIM5_ENST00000437932.1_Missense_Mutation_p.A355T	p.A464T	NM_001256428.1|NM_006457.4	NP_001243357.1|NP_006448.4	Q96HC4	PDLI5_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;1.84e-09)	10	1526	+		Hepatocellular(203;0.114)	464			LIM zinc-binding 1.		A8K6F9|D6RB78|E9PBF5|O60705|Q56VN4|Q5UW38|Q8WVK0	Missense_Mutation	SNP	ENST00000317968.4	37	c.1390G>A	CCDS3641.1	.	.	.	.	.	.	.	.	.	.	G	17.88	3.497786	0.64186	.	.	ENSG00000163110	ENST00000437932;ENST00000317968;ENST00000503974;ENST00000542407;ENST00000514743	D;D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19;-2.19	5.86	5.86	0.93980	Zinc finger, LIM-type (4);	0.108328	0.64402	D	0.000004	D	0.84866	0.5567	N	0.16066	0.365	0.31562	N	0.657366	P;D;P;B	0.56521	0.908;0.976;0.775;0.393	P;P;P;B	0.59288	0.542;0.855;0.752;0.312	T	0.81484	-0.0912	10	0.18276	T	0.48	.	15.2874	0.73838	0.0688:0.0:0.9312:0.0	.	361;493;464;355	E9PBF5;D6RB78;Q96HC4;Q96HC4-4	.;.;PDLI5_HUMAN;.	T	355;464;361;342;493	ENSP00000398469:A355T;ENSP00000321746:A464T;ENSP00000424297:A361T;ENSP00000442187:A342T;ENSP00000424360:A493T	ENSP00000321746:A464T	A	+	1	0	PDLIM5	95794740	0.001000	0.12720	1.000000	0.80357	0.989000	0.77384	0.920000	0.28705	2.763000	0.94921	0.585000	0.79938	GCC		0.433	PDLIM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253586.1			26	65	0	0	0	1	0	26	65					A	95575717	G	A	95575717	3	1	435	1	0	0	0	0	1	0	0	0	11683	971	34	3	1584	3	PDLIM5	4	95575717	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	389679	95575717	95578559	2378	23303											
UNC5C	8633	broad.mit.edu	37	chr4	96106267	96106267	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaattgacaggcgcaggttGtgggtgctgcctttaaaatg	9	12	14	6	1	0	2	0	2	0	0	0	2	0	2	1	3	2	3	1	3	3	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:96106267G>A	ENST00000453304.1	-	13	2565	c.2217C>T	c.(2215-2217)caC>caT	p.H739H		NM_003728.3	NP_003719.3	O95185	UNC5C_HUMAN	unc-5 homolog C (C. elegans)	739					anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|brain development (GO:0007420)|positive regulation of apoptotic process (GO:0043065)|regulation of cell migration (GO:0030334)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	netrin receptor activity (GO:0005042)			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	55		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)		GGCGCAGGTTGTGGGTGCTGC	0.463																																						ENST00000453304.1																			0				NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	55						c.(2215-2217)caC>caT		unc-5 homolog C (C. elegans)							115	114	114					4																	96106267		2203	4300	6503	SO:0001819	synonymous_variant	8633				apoptosis|axon guidance|brain development	integral to membrane	netrin receptor activity	g.chr4:96106267G>A	AF055634	CCDS3643.1	4q21-q23	2013-01-11	2001-11-28		ENSG00000182168	ENSG00000182168		"Immunoglobulin superfamily / I-set domain containing"	12569	protein-coding gene	gene with protein product		603610	"unc5 (C.elegans homolog) c"			9126742, 9782087	Standard	NM_003728		Approved		uc003hto.3	O95185	OTTHUMG00000130989	ENST00000453304.1:c.2217C>T	4.37:g.96106267G>A							p.H739H	NM_003728.3	NP_003719.3	O95185	UNC5C_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)	13	2565	-		Hepatocellular(203;0.114)	739					Q8IUT0	Silent	SNP	ENST00000453304.1	37	c.2217C>T	CCDS3643.1																																																																																				0.463	UNC5C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253607.1	NM_003728		46	65	0	0	0	1	0	46	65					A	96106267	G	A	96106267	2	1	435	1	0	0	0	0	0	0	0	1	16990	1368	48	3		3	UNC5C	4	96106267	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	530550	96106267	95048009	2379	23304											
C4orf37	285555	broad.mit.edu	37	chr4	98762082	98762082	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agctgcctggcgctggaataAcctgaaaaaaaatttaatag	16	9	9	7	1	0	1	0	1	0	0	0	2	0	2	2	2	3	2	2	2	8	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:98762082A>G	ENST00000295268.3	-	9	1135	c.1046T>C	c.(1045-1047)gTt>gCt	p.V349A	STPG2_ENST00000506482.1_Intron	NM_174952.2	NP_777612.1	Q8N412	STPG2_HUMAN	sperm-tail PG-rich repeat containing 2	349																	CGCTGGAATAACCTGAAAAAA	0.328																																						ENST00000295268.3																			0											c.e9-1		sperm-tail PG-rich repeat containing 2							46	49	48					4																	98762082		2203	4297	6500	SO:0001630	splice_region_variant	285555							g.chr4:98762082A>G	BC036870	CCDS3645.1	4q22.3-q23	2013-10-11	2012-07-30	2012-07-30	ENSG00000163116	ENSG00000163116			28712	protein-coding gene	gene with protein product			"chromosome 4 open reading frame 37"	C4orf37		23031811	Standard	NM_174952		Approved	MGC46496	uc003htt.2	Q8N412	OTTHUMG00000131009	ENST00000295268.3:c.1045-1T>C	4.37:g.98762082A>G						STPG2_ENST00000506482.1_Intron	p.V349_splice	NM_174952.2	NP_777612.1					9	1135	-									Splice_Site	SNP	ENST00000295268.3	37	c.1044_splice	CCDS3645.1	.	.	.	.	.	.	.	.	.	.	A	1.378	-0.584097	0.03827	.	.	ENSG00000163116	ENST00000522676;ENST00000295268	T;T	0.39997	1.05;2.87	5.47	-6.5	0.01884	.	0.961496	0.08451	N	0.943953	T	0.17959	0.0431	N	0.14661	0.345	0.09310	N	1	B	0.18461	0.028	B	0.14023	0.01	T	0.17623	-1.0363	10	0.29301	T	0.29	-10.9633	3.3891	0.07282	0.1433:0.4276:0.0963:0.3328	.	349	Q8N412	CD037_HUMAN	A	63;349	ENSP00000428346:V63A;ENSP00000295268:V349A	ENSP00000295268:V349A	V	-	2	0	C4orf37	98981105	0.000000	0.05858	0.007000	0.13788	0.602000	0.36980	-2.293000	0.01145	-0.914000	0.03827	-0.446000	0.05623	GTT		0.328	STPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253642.1	NM_174952	Missense_Mutation	26	40	0	0	0	1	0	26	40					G	98762082	A	G	98762082	5	3	435	1	0	0	0	0	0	0	1	0	2267	57	2	4	345	4	C4orf37	4	98762082	Splice_Site	SNP	A	TCGA-XK-AAIW-01A-11D-A41K-08	2655815	98762082	92392194	2380	23305											
RAP1GDS1	5910	broad.mit.edu	37	chr4	99342450	99342450	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agaatgttaagttagtggagCgtttggtggaatggtgtgaa	11	13	16	1	1	0	2	0	1	0	1	0	4	0	4	0	4	1	3	0	4	5	3	rs376393207		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:99342450C>T	ENST00000408927.3	+	12	1458	c.1345C>T	c.(1345-1347)Cgt>Tgt	p.R449C	RAP1GDS1_ENST00000408900.3_Missense_Mutation_p.R400C|RAP1GDS1_ENST00000339360.5_Missense_Mutation_p.R450C|RAP1GDS1_ENST00000264572.7_Missense_Mutation_p.R358C|RAP1GDS1_ENST00000453712.2_Missense_Mutation_p.R449C|RAP1GDS1_ENST00000380158.4_Missense_Mutation_p.R401C	NM_001100426.1|NM_001100427.1|NM_021159.4	NP_001093896.1|NP_001093897.1|NP_066982.3	P52306	GDS1_HUMAN	RAP1, GTP-GDP dissociation stimulator 1	449					myosin filament assembly (GO:0031034)|negative regulation of endoplasmic reticulum calcium ion concentration (GO:0032471)|positive regulation of mitochondrial calcium ion concentration (GO:0051561)|positive regulation of Rho GTPase activity (GO:0032321)|vascular smooth muscle contraction (GO:0014829)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	GTPase activator activity (GO:0005096)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)	28				OV - Ovarian serous cystadenocarcinoma(123;2.9e-07)|LUSC - Lung squamous cell carcinoma(1;0.0253)|Lung(1;0.0576)		GTTAGTGGAGCGTTTGGTGGA	0.423			T	NUP98	T-ALL																																	ENST00000408927.3				Dom	yes		4	4q21-q25	5910	T	"RAP1, GTP-GDP dissociation stimulator 1"			L	NUP98		T-ALL		0				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)	28						c.(1345-1347)Cgt>Tgt		RAP1, GTP-GDP dissociation stimulator 1							126	123	124					4																	99342450		1967	4155	6122	SO:0001583	missense	5910						binding|GTPase activator activity	g.chr4:99342450C>T		CCDS43253.1, CCDS43254.1, CCDS47105.1, CCDS47106.1, CCDS47107.1, CCDS47108.1	4q23-q25	2013-02-14			ENSG00000138698	ENSG00000138698		"Armadillo repeat containing"	9859	protein-coding gene	gene with protein product		179502				8262526, 17951244	Standard	NM_001100426		Approved	SmgGDS	uc003htw.4	P52306	OTTHUMG00000160987	ENST00000408927.3:c.1345C>T	4.37:g.99342450C>T	ENSP00000386153:p.Arg449Cys					RAP1GDS1_ENST00000408900.3_Missense_Mutation_p.R400C|RAP1GDS1_ENST00000264572.7_Missense_Mutation_p.R358C|RAP1GDS1_ENST00000380158.4_Missense_Mutation_p.R401C|RAP1GDS1_ENST00000339360.5_Missense_Mutation_p.R450C|RAP1GDS1_ENST00000453712.2_Missense_Mutation_p.R449C	p.R449C	NM_001100426.1|NM_001100427.1|NM_021159.4	NP_001093896.1|NP_001093897.1|NP_066982.3	P52306	GDS1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;2.9e-07)|LUSC - Lung squamous cell carcinoma(1;0.0253)|Lung(1;0.0576)	12	1458	+			449					E9PH06|G5E9P9|Q499L7|Q4KMV2|Q4QQI8|Q9BUW9|Q9BUX6|Q9NYM2|Q9NZA8	Missense_Mutation	SNP	ENST00000408927.3	37	c.1345C>T	CCDS43253.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.188641	0.78789	.	.	ENSG00000138698	ENST00000380158;ENST00000264572;ENST00000408927;ENST00000453712;ENST00000408900;ENST00000339360	T;T;T;T;T;T	0.14144	2.53;2.53;2.53;2.53;2.53;2.53	5.79	5.79	0.91817	Armadillo-like helical (1);Armadillo-type fold (1);	0.056154	0.64402	D	0.000002	T	0.34890	0.0913	M	0.66939	2.045	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;0.997;0.994;1.0;1.0;1.0	D;P;P;D;D;D	0.71184	0.939;0.742;0.556;0.965;0.911;0.972	T	0.00715	-1.1597	10	0.38643	T	0.18	-9.0075	15.63	0.76899	0.1379:0.8621:0.0:0.0	.	358;400;401;449;450;449	E9PH06;P52306-2;Q499L7;P52306;Q4QQI8;G5E9P9	.;.;.;GDS1_HUMAN;.;.	C	401;358;449;449;400;450	ENSP00000369503:R401C;ENSP00000264572:R358C;ENSP00000386153:R449C;ENSP00000407157:R449C;ENSP00000386223:R400C;ENSP00000340454:R450C	ENSP00000264572:R358C	R	+	1	0	RAP1GDS1	99561473	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.125000	0.42016	2.722000	0.93159	0.655000	0.94253	CGT		0.423	RAP1GDS1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000363273.2	NM_001100426		17	30	0	0	0	1	0	17	30					T	99342450	C	T	99342450	3	4	435	1	0	0	0	0	1	0	0	0	13039	768	27	1	1394	1	RAP1GDS1	4	99342450	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	580368	99342450	91811826	2381	23306											
TSPAN5	10098	broad.mit.edu	37	chr4	99403179	99403179	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttcctgggtgaagtctatgaGgttttgcaaatcaatgtcat	10	15	10	6	0	3	2	2	2	1	0	4	2	4	2	1	2	1	2	1	2	4	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:99403179G>A	ENST00000305798.3	-	4	829	c.427C>T	c.(427-429)Ctc>Ttc	p.L143F	TSPAN5_ENST00000505184.1_Missense_Mutation_p.L72F|TSPAN5_ENST00000509168.1_5'UTR	NM_005723.3	NP_005714.2	P62079	TSN5_HUMAN	tetraspanin 5	143					establishment of protein localization to plasma membrane (GO:0090002)|positive regulation of Notch signaling pathway (GO:0045747)|protein maturation (GO:0051604)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)			kidney(2)|large_intestine(6)|lung(5)|upper_aerodigestive_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(123;1.89e-07)		AAGTCTATGAGGTTTTGCAAA	0.373																																						ENST00000305798.3																			0				kidney(2)|large_intestine(6)|lung(5)|upper_aerodigestive_tract(1)	14						c.(427-429)Ctc>Ttc		tetraspanin 5							154	154	154					4																	99403179		2203	4300	6503	SO:0001583	missense	10098					integral to membrane		g.chr4:99403179G>A		CCDS3646.1	4q22.3	2013-02-14	2005-03-21	2005-03-21	ENSG00000168785	ENSG00000168785		"Tetraspanins"	17753	protein-coding gene	gene with protein product		613136	"transmembrane 4 superfamily member 9"	TM4SF9			Standard	NM_005723		Approved	Tspan-5, NET-4	uc003hub.3	P62079	OTTHUMG00000131008	ENST00000305798.3:c.427C>T	4.37:g.99403179G>A	ENSP00000307701:p.Leu143Phe					TSPAN5_ENST00000505184.1_Missense_Mutation_p.L72F|TSPAN5_ENST00000509168.1_5'UTR	p.L143F	NM_005723.3	NP_005714.2	P62079	TSN5_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;1.89e-07)	4	829	-			143					B2RDY2|O60628|O60746|Q6FHE5|Q9JLY1	Missense_Mutation	SNP	ENST00000305798.3	37	c.427C>T	CCDS3646.1	.	.	.	.	.	.	.	.	.	.	G	27.4	4.824832	0.90955	.	.	ENSG00000168785	ENST00000305798;ENST00000505184;ENST00000515287	T;T;T	0.79653	-1.29;-1.29;-1.29	5.94	5.94	0.96194	Tetraspanin, EC2 domain (1);	0.000000	0.85682	D	0.000000	D	0.89469	0.6724	M	0.67397	2.05	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.88419	0.3027	10	0.52906	T	0.07	.	20.3736	0.98901	0.0:0.0:1.0:0.0	.	143	P62079	TSN5_HUMAN	F	143;72;72	ENSP00000307701:L143F;ENSP00000423916:L72F;ENSP00000423504:L72F	ENSP00000307701:L143F	L	-	1	0	TSPAN5	99622202	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.666000	0.98612	2.820000	0.97059	0.650000	0.86243	CTC		0.373	TSPAN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253641.2	NM_005723		39	65	0	0	0	1	0	39	65					A	99403179	G	A	99403179	3	1	435	1	0	0	0	0	1	0	0	0	16647	1000	35	3	399	3	TSPAN5	4	99403179	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	60729	99403179	91751097	2382	23307											
ADH6	130	broad.mit.edu	37	chr4	100128604	100128604	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttccctgcttcatccataccTccaaaaacagaacccttcaa	13	10	2	16	0	2	1	2	0	0	1	5	1	5	1	5	0	4	1	5	0	5	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:100128604T>C	ENST00000237653.7	-	7	1347	c.963A>G	c.(961-963)ggA>ggG	p.G321G	ADH6_ENST00000394897.1_Intron|ADH6_ENST00000394899.2_Splice_Site_p.G321G|ADH6_ENST00000407820.2_Splice_Site_p.G112G|RP11-696N14.1_ENST00000500358.2_RNA|RP11-696N14.1_ENST00000506160.1_RNA|ADH6_ENST00000504257.1_5'Flank|RP11-696N14.1_ENST00000506454.1_RNA	NM_000672.3	NP_000663	P28332	ADH6_HUMAN	alcohol dehydrogenase 6 (class V)	321					ethanol oxidation (GO:0006069)|response to ethanol (GO:0045471)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	alcohol dehydrogenase (NAD) activity (GO:0004022)|alcohol dehydrogenase activity, zinc-dependent (GO:0004024)|ethanol binding (GO:0035276)|zinc ion binding (GO:0008270)			breast(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(2)	20				OV - Ovarian serous cystadenocarcinoma(123;3.58e-08)	Abacavir(DB01048)	CATCCATACCTCCAAAAACAG	0.453																																						ENST00000394899.2																			0				breast(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(2)	20						c.e7+1		alcohol dehydrogenase 6 (class V)	Abacavir(DB01048)|NADH(DB00157)						121	121	121					4																	100128604		2203	4300	6503	SO:0001630	splice_region_variant	130				ethanol oxidation|response to ethanol|xenobiotic metabolic process	cytosol	alcohol dehydrogenase (NAD) activity|electron carrier activity|zinc ion binding	g.chr4:100128604T>C	AK092768	CCDS3647.1, CCDS43255.1	4q23	2008-02-05			ENSG00000172955	ENSG00000172955	1.1.1.1	"Alcohol dehydrogenases"	255	protein-coding gene	gene with protein product		103735				1881901	Standard	NM_000672		Approved	ADH-5	uc003huo.2	P28332	OTTHUMG00000131024	ENST00000237653.7:c.964+1A>G	4.37:g.100128604T>C						RP11-696N14.1_ENST00000506454.1_RNA|RP11-696N14.1_ENST00000506160.1_RNA|RP11-696N14.1_ENST00000500358.2_RNA|ADH6_ENST00000407820.2_Splice_Site_p.G112_splice|ADH6_ENST00000394897.1_Intron|ADH6_ENST00000237653.7_Splice_Site_p.G321_splice	p.G321_splice	NM_001102470.1	NP_001095940.1	P28332	ADH6_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;3.58e-08)	7	1056	-			321					B3KS45|Q58F53	Splice_Site	SNP	ENST00000237653.7	37	c.964_splice	CCDS3647.1																																																																																				0.453	ADH6-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000253665.1	NM_000672	Silent	27	33	0	0	0	1	0	27	33					C	100128604	T	C	100128604	5	2	435	1	0	0	0	0	0	0	1	0	312	1565	54	4	180	4	ADH6	4	100128604	Splice_Site	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	725425	100128604	91025672	2383	23308											
ADH1A	124	broad.mit.edu	37	chr4	100208060	100208060	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctccacgatgccggctgccTcatggcctaaaatcacagga	10	8	9	14	2	3	0	2	0	1	0	4	2	3	1	4	3	2	1	4	3	2	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:100208060T>A	ENST00000209668.2	-	3	319	c.206A>T	c.(205-207)gAg>gTg	p.E69V	RP11-696N14.1_ENST00000500358.2_RNA|ADH1A_ENST00000511656.1_5'UTR	NM_000667.3	NP_000658.1	P07327	ADH1A_HUMAN	alcohol dehydrogenase 1A (class I), alpha polypeptide	69					alcohol metabolic process (GO:0006066)|drug metabolic process (GO:0017144)|ethanol oxidation (GO:0006069)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	alcohol dehydrogenase (NAD) activity (GO:0004022)|alcohol dehydrogenase activity, zinc-dependent (GO:0004024)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(1)	25				OV - Ovarian serous cystadenocarcinoma(123;9.56e-08)	Ethanol(DB00898)|Fomepizole(DB01213)	GCCGGCTGCCTCATGGCCTAA	0.502																																						ENST00000209668.2																			0				endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(1)	25						c.(205-207)gAg>gTg		alcohol dehydrogenase 1A (class I), alpha polypeptide	Fomepizole(DB01213)|NADH(DB00157)						199	181	187					4																	100208060		2203	4300	6503	SO:0001583	missense	124				ethanol oxidation|transcription, DNA-dependent|xenobiotic metabolic process	cytosol	alcohol dehydrogenase activity, zinc-dependent|protein binding|zinc ion binding	g.chr4:100208060T>A	M12963	CCDS3648.1	4q23	2009-12-04			ENSG00000187758	ENSG00000187758	1.1.1.1	"Alcohol dehydrogenases"	249	protein-coding gene	gene with protein product		103700		ADH1		3006456	Standard	NM_000667		Approved		uc003hur.2	P07327	OTTHUMG00000131026	ENST00000209668.2:c.206A>T	4.37:g.100208060T>A	ENSP00000209668:p.Glu69Val					RP11-696N14.1_ENST00000500358.2_RNA|ADH1A_ENST00000511656.1_5'UTR	p.E69V	NM_000667.3	NP_000658.1	P07327	ADH1A_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;9.56e-08)	3	319	-			69					A8K3E3|Q17R68	Missense_Mutation	SNP	ENST00000209668.2	37	c.206A>T	CCDS3648.1	.	.	.	.	.	.	.	.	.	.	T	19.92	3.916993	0.73098	.	.	ENSG00000187758	ENST00000209668	T	0.19938	2.11	2.79	2.79	0.32731	GroES-like (1);Alcohol dehydrogenase GroES-like (1);Alcohol dehydrogenase, zinc-type, conserved site (1);	0.000000	0.85682	D	0.000000	T	0.62780	0.2456	H	0.99830	4.82	0.80722	D	1	D	0.58970	0.984	P	0.62885	0.908	T	0.77608	-0.2524	10	0.87932	D	0	-20.9372	11.187	0.48662	0.0:0.0:0.0:1.0	.	69	P07327	ADH1A_HUMAN	V	69	ENSP00000209668:E69V	ENSP00000209668:E69V	E	-	2	0	ADH1A	100427083	1.000000	0.71417	0.863000	0.33907	0.958000	0.62258	7.063000	0.76714	1.265000	0.44215	0.377000	0.23210	GAG		0.502	ADH1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253669.1	NM_000667		51	71	0	0	0	1	0	51	71					A	100208060	T	A	100208060	3	1	435	1	0	0	0	0	1	0	0	0	307	1551	54	5	949	5	ADH1A	4	100208060	Missense_Mutation	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	79456	100208060	90946216	2384	23309											
ADH7	131	broad.mit.edu	37	chr4	100334311	100334311	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgccactttggatctcaaaaCgtcaggaccgttcgaatgct	10	11	9	11	3	2	0	2	0	1	0	4	3	2	2	2	2	3	2	2	2	3	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:100334311C>T	ENST00000209665.4	-	9	1395	c.1155G>A	c.(1153-1155)acG>acA	p.T385T	ADH7_ENST00000482593.1_Silent_p.T316T|ADH7_ENST00000476959.1_Silent_p.T393T|ADH7_ENST00000437033.2_Silent_p.T373T	NM_000673.4	NP_000664.2	P40394	ADH7_HUMAN	alcohol dehydrogenase 7 (class IV), mu or sigma polypeptide	385					ethanol catabolic process (GO:0006068)|ethanol oxidation (GO:0006069)|extracellular negative regulation of signal transduction (GO:1900116)|fatty acid omega-oxidation (GO:0010430)|oxidation-reduction process (GO:0055114)|response to bacterium (GO:0009617)|response to ethanol (GO:0045471)|retinoic acid metabolic process (GO:0042573)|retinoid metabolic process (GO:0001523)|retinol metabolic process (GO:0042572)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular region (GO:0005576)	alcohol dehydrogenase (NAD) activity (GO:0004022)|alcohol dehydrogenase activity, zinc-dependent (GO:0004024)|aldehyde oxidase activity (GO:0004031)|ethanol binding (GO:0035276)|receptor antagonist activity (GO:0048019)|retinol binding (GO:0019841)|retinol dehydrogenase activity (GO:0004745)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|large_intestine(4)|lung(11)|skin(1)	19				OV - Ovarian serous cystadenocarcinoma(123;1.75e-08)		GATCTCAAAACGTCAGGACCG	0.378																																						ENST00000437033.2																			0				breast(1)|central_nervous_system(2)|large_intestine(4)|lung(11)|skin(1)	19						c.(1117-1119)acG>acA		alcohol dehydrogenase 7 (class IV), mu or sigma polypeptide	NADH(DB00157)						142	133	136					4																	100334311		2203	4300	6503	SO:0001819	synonymous_variant	131				ethanol oxidation|fatty acid omega-oxidation|response to bacterium|response to ethanol|xenobiotic metabolic process	cytosol|soluble fraction	alcohol dehydrogenase activity, zinc-dependent|aldehyde oxidase activity|ethanol binding|receptor antagonist activity|retinol binding|retinol dehydrogenase activity	g.chr4:100334311C>T	X76342	CCDS34034.1, CCDS54781.1	4q23-q24	2008-02-05			ENSG00000196344	ENSG00000196344	1.1.1.1	"Alcohol dehydrogenases"	256	protein-coding gene	gene with protein product		600086				8195208	Standard	NM_000673		Approved	ADH-4	uc021xqj.1	P40394	OTTHUMG00000159318	ENST00000209665.4:c.1155G>A	4.37:g.100334311C>T						ADH7_ENST00000482593.1_Silent_p.T316T|ADH7_ENST00000209665.4_Silent_p.T385T|ADH7_ENST00000476959.1_Silent_p.T393T	p.T373T			P40394	ADH7_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;1.75e-08)	9	1622	-			385					A2RRB6|A8MVN9|B2R760|B4DWV6|Q13713	Silent	SNP	ENST00000209665.4	37	c.1119G>A	CCDS34034.1																																																																																				0.378	ADH7-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_000673		25	76	0	0	0	1	0	25	76					T	100334311	C	T	100334311	2	4	435	1	0	0	0	0	0	0	0	1	313	523	19	1		1	ADH7	4	100334311	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	126251	100334311	90819965	2385	23310											
DNAJB14	79982	broad.mit.edu	37	chr4	100851701	100851701	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcaattaggcttgctttgatCgccactacctgatggttttc	7	15	9	10	1	0	2	0	2	0	0	2	2	0	2	2	2	2	4	2	2	3	6			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:100851701C>T	ENST00000442697.2	-	2	365	c.211G>A	c.(211-213)Gat>Aat	p.D71N	DNAJB14_ENST00000471738.1_5'UTR	NM_001031723.2|NM_001278310.1	NP_001026893.1|NP_001265239.1	Q8TBM8	DJB14_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 14	71						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				kidney(1)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	5				OV - Ovarian serous cystadenocarcinoma(123;4.59e-09)		TTGCTTTGATCGCCACTACCT	0.428																																						ENST00000442697.2																			0				kidney(1)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	5						c.(211-213)Gat>Aat		DnaJ (Hsp40) homolog, subfamily B, member 14							271	240	250					4																	100851701		2203	4300	6503	SO:0001583	missense	79982				protein folding	integral to membrane	heat shock protein binding|unfolded protein binding	g.chr4:100851701C>T	BC022248	CCDS34035.1, CCDS75171.1	4q23	2011-09-02			ENSG00000164031	ENSG00000164031		"Heat shock proteins / DNAJ (HSP40)"	25881	protein-coding gene	gene with protein product							Standard	NM_001031723		Approved	FLJ14281	uc003hvl.4	Q8TBM8	OTTHUMG00000131049	ENST00000442697.2:c.211G>A	4.37:g.100851701C>T	ENSP00000404381:p.Asp71Asn					DNAJB14_ENST00000471738.1_5'UTR	p.D71N	NM_001031723.2|NM_001278310.1	NP_001026893.1|NP_001265239.1	Q8TBM8	DJB14_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;4.59e-09)	2	365	-			71					Q6UXN1|Q7Z3P0|Q86TA7|Q86TM0|Q9GZU9	Missense_Mutation	SNP	ENST00000442697.2	37	c.211G>A	CCDS34035.1	.	.	.	.	.	.	.	.	.	.	C	12.06	1.824454	0.32237	.	.	ENSG00000164031	ENST00000442697	T	0.63417	-0.04	5.7	5.7	0.88788	.	0.212421	0.39020	N	0.001489	T	0.47801	0.1465	N	0.25647	0.755	0.20926	N	0.99982	B	0.25105	0.118	B	0.16289	0.015	T	0.18650	-1.0330	10	0.09338	T	0.73	.	18.0119	0.89226	0.0:1.0:0.0:0.0	.	71	Q8TBM8	DJB14_HUMAN	N	71	ENSP00000404381:D71N	ENSP00000404381:D71N	D	-	1	0	DNAJB14	101070724	0.983000	0.35010	0.037000	0.18230	0.890000	0.51754	2.588000	0.46137	2.675000	0.91044	0.655000	0.94253	GAT		0.428	DNAJB14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253696.2	NM_001031723.2		36	77	0	0	0	1	0	36	77					T	100851701	C	T	100851701	3	4	435	1	0	0	0	0	1	0	0	0	4619	884	31	2	956	2	DNAJB14	4	100851701	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	517390	100851701	90302575	2386	23311											
EMCN	51705	broad.mit.edu	37	chr4	101386659	101386659	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttacgtttgaaatgatggaGtcattcttcctgacatcagt	10	15	9	7	1	3	3	2	3	1	0	4	4	4	4	1	1	1	2	1	1	2	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:101386659G>T	ENST00000296420.4	-	4	475	c.297C>A	c.(295-297)gaC>gaA	p.D99E	EMCN_ENST00000502327.1_5'UTR|EMCN_ENST00000511970.1_Missense_Mutation_p.D99E|EMCN_ENST00000305864.3_Missense_Mutation_p.D99E	NM_001159694.1|NM_016242.3	NP_001153166.1|NP_057326.2	Q9ULC0	MUCEN_HUMAN	endomucin	99	Thr-rich.					extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(1)	13				OV - Ovarian serous cystadenocarcinoma(123;2.49e-08)		AAATGATGGAGTCATTCTTCC	0.353																																						ENST00000296420.4																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(1)	13						c.(295-297)gaC>gaA		endomucin							185	163	171					4																	101386659		2203	4300	6503	SO:0001583	missense	51705					extracellular region|integral to membrane|plasma membrane		g.chr4:101386659G>T	AF205940	CCDS3655.1, CCDS54782.1	4q22.1	2008-02-05			ENSG00000164035	ENSG00000164035		"Mucins"	16041	protein-coding gene	gene with protein product		608350				11418125, 11594763	Standard	NM_016242		Approved	MUC14	uc003hvr.3	Q9ULC0	OTTHUMG00000131051	ENST00000296420.4:c.297C>A	4.37:g.101386659G>T	ENSP00000296420:p.Asp99Glu					EMCN_ENST00000511970.1_Missense_Mutation_p.D99E|EMCN_ENST00000502327.1_5'UTR|EMCN_ENST00000305864.3_Missense_Mutation_p.D99E	p.D99E	NM_001159694.1|NM_016242.3	NP_001153166.1|NP_057326.2	Q9ULC0	MUCEN_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;2.49e-08)	4	475	-			99			Thr-rich.		A8K716|B4E347|Q8NEY5|Q8WWE7|Q9NRM8	Missense_Mutation	SNP	ENST00000296420.4	37	c.297C>A	CCDS3655.1	.	.	.	.	.	.	.	.	.	.	C	0.001	-3.082634	0.00035	.	.	ENSG00000164035	ENST00000296420;ENST00000305864;ENST00000506300;ENST00000511970;ENST00000502569	.	.	.	3.93	-5.48	0.02592	.	0.255416	0.20563	N	0.089873	T	0.05823	0.0152	N	0.01874	-0.695	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.0;0.0;0.001	T	0.22347	-1.0219	9	0.02654	T	1	-0.0045	1.5191	0.02512	0.2109:0.2363:0.1048:0.4481	.	99;99;99	Q9ULC0-2;B4E347;Q9ULC0	.;.;MUCEN_HUMAN	E	99;99;26;99;99	.	ENSP00000296420:D99E	D	-	3	2	EMCN	101605682	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.857000	0.04286	-1.982000	0.00988	-0.824000	0.03097	GAC		0.353	EMCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253699.2	NM_016242		24	28	1	0	4.72057e-08	1	4.96844e-08	24	28					T	101386659	G	T	101386659	3	4	435	1	0	0	0	0	1	0	0	0	5086	1020	36	5	520	5	EMCN	4	101386659	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	534958	101386659	89767617	2387	23312											
PPP3CA	5530	broad.mit.edu	37	chr4	102001725	102001725	+	Frame_Shift_Del	DEL	A	A	-																															atctaagtaatttggtgctgAaaaaattgtaattagagaag																										TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:102001725delA	ENST00000394854.3	-	8	1602	c.919delT	c.(919-921)tcafs	p.S307fs	PPP3CA_ENST00000512215.1_Intron|PPP3CA_ENST00000323055.6_Frame_Shift_Del_p.S307fs|PPP3CA_ENST00000394853.4_Frame_Shift_Del_p.S307fs|PPP3CA_ENST00000507176.1_Frame_Shift_Del_p.S209fs|PPP3CA_ENST00000523694.2_Frame_Shift_Del_p.S240fs	NM_000944.4	NP_000935.1	Q08209	PP2BA_HUMAN	protein phosphatase 3, catalytic subunit, alpha isozyme	307					calcineurin-NFAT signaling cascade (GO:0033173)|calcium ion transport (GO:0006816)|cellular response to drug (GO:0035690)|cellular response to glucose stimulus (GO:0071333)|dephosphorylation (GO:0016311)|Fc-epsilon receptor signaling pathway (GO:0038095)|G1/S transition of mitotic cell cycle (GO:0000082)|innate immune response (GO:0045087)|multicellular organismal response to stress (GO:0033555)|negative regulation of insulin secretion (GO:0046676)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein dephosphorylation (GO:0006470)|protein import into nucleus (GO:0006606)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of synaptic transmission (GO:0050804)|response to amphetamine (GO:0001975)|response to calcium ion (GO:0051592)|skeletal muscle fiber development (GO:0048741)|T cell activation (GO:0042110)|transition between fast and slow fiber (GO:0014883)	calcineurin complex (GO:0005955)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|calmodulin-dependent protein phosphatase activity (GO:0033192)|drug binding (GO:0008144)|enzyme binding (GO:0019899)|protein dimerization activity (GO:0046983)|protein serine/threonine phosphatase activity (GO:0004722)			breast(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	20				OV - Ovarian serous cystadenocarcinoma(123;6.79e-08)		TTTGGTGCTGAAAAAATTGTA	0.318																																						ENST00000394854.3																			0				breast(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	20						c.(919-921)cafs		protein phosphatase 3, catalytic subunit, alpha isozyme							72	73	73					4																	102001725		2202	4298	6500	SO:0001589	frameshift_variant	5530				protein dephosphorylation	calcineurin complex|cytosol|nucleus	calcium ion binding|calmodulin binding	g.chr4:102001725delA		CCDS34037.1, CCDS47113.1, CCDS47114.1	4q24	2010-03-17	2010-03-05		ENSG00000138814	ENSG00000138814	3.1.3.16	"Serine/threonine phosphatases / Protein phosphatase, catalytic subunits"	9314	protein-coding gene	gene with protein product	"calcineurin A alpha", "protein phosphatase 2B, catalytic subunit, alpha isoform"	114105	"protein phosphatase 3 (formerly 2B), catalytic subunit, alpha isoform (calcineurin A alpha)", "protein phosphatase 3 (formerly 2B), catalytic subunit, alpha isoform"	CALN, CALNA		2848250, 1659808	Standard	NM_000944		Approved	CNA1, PPP2B	uc011cen.1	Q08209	OTTHUMG00000133839	ENST00000394854.3:c.919delT	4.37:g.102001725delA	ENSP00000378323:p.Ser307fs					PPP3CA_ENST00000512215.1_Intron|PPP3CA_ENST00000523694.2_Frame_Shift_Del_p.S240fs|PPP3CA_ENST00000323055.6_Frame_Shift_Del_p.S307fs|PPP3CA_ENST00000394853.4_Frame_Shift_Del_p.S307fs|PPP3CA_ENST00000507176.1_Frame_Shift_Del_p.S209fs	p.S307fs	NM_000944.4	NP_000935.1	Q08209	PP2BA_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;6.79e-08)	8	1602	-			307					A1A441|A8K3B7|A8W6Z7|A8W6Z8|B5BUA2|Q8TAW9	Frame_Shift_Del	DEL	ENST00000394854.3	37	c.919delT	CCDS34037.1																																																																																				0.318	PPP3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000258379.2	NM_000944		30	46						30	46	---	---	---	---	-	102001725	A	-	102001725	7	5	435	1	0	1	0	1	0	0	0	0	12397	246	9	0	674	0	PPP3CA	4	102001725	Frame_Shift_Del	DEL	A	TCGA-XK-AAIW-01A-11D-A41K-08	615066	102001725	89152551	2388	23313											
SLC39A8	64116	broad.mit.edu	37	chr4	103188797	103188797	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aatagcaaggcttgtcgagtGctcatccctgcattgagtag	10	11	11	9	1	1	1	1	1	0	0	3	2	2	1	1	1	3	5	1	1	4	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:103188797G>A	ENST00000394833.2	-	7	1559	c.1083C>T	c.(1081-1083)agC>agT	p.S361S	SLC39A8_ENST00000356736.4_Silent_p.S361S|SLC39A8_ENST00000424970.2_Silent_p.S361S	NM_001135148.1|NM_022154.5	NP_001128620.1|NP_071437.3	Q9C0K1	S39A8_HUMAN	solute carrier family 39 (zinc transporter), member 8	361					transmembrane transport (GO:0055085)|zinc ion transport (GO:0006829)	integral component of membrane (GO:0016021)|organelle membrane (GO:0031090)|plasma membrane (GO:0005886)	metal ion transmembrane transporter activity (GO:0046873)			large_intestine(1)|lung(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	9		Hepatocellular(203;0.217)		all cancers(1;9.78e-10)|OV - Ovarian serous cystadenocarcinoma(123;1.52e-09)|GBM - Glioblastoma multiforme(1;0.000142)		CTTGTCGAGTGCTCATCCCTG	0.378																																						ENST00000424970.2																			0				large_intestine(1)|lung(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	9						c.(1081-1083)agC>agT		solute carrier family 39 (zinc transporter), member 8							108	100	103					4																	103188797		2203	4300	6503	SO:0001819	synonymous_variant	64116					integral to membrane|organelle membrane|plasma membrane	zinc ion transmembrane transporter activity	g.chr4:103188797G>A		CCDS3656.1, CCDS47117.1	4q22-q24	2013-05-22			ENSG00000138821	ENSG00000138821		"Solute carriers"	20862	protein-coding gene	gene with protein product		608732	"solute carrier family 39 (metal ion transporter), member 8"			12504855, 12659941	Standard	NM_001135146		Approved	BIGM103	uc003hwc.2	Q9C0K1	OTTHUMG00000131120	ENST00000394833.2:c.1083C>T	4.37:g.103188797G>A						SLC39A8_ENST00000356736.4_Silent_p.S361S|SLC39A8_ENST00000394833.2_Silent_p.S361S	p.S361S	NM_001135147.1	NP_001128619.1	Q9C0K1	S39A8_HUMAN		all cancers(1;9.78e-10)|OV - Ovarian serous cystadenocarcinoma(123;1.52e-09)|GBM - Glioblastoma multiforme(1;0.000142)	8	1398	-		Hepatocellular(203;0.217)	361					B4E2H3|Q96SM9|Q9BVC0|Q9NSA4	Silent	SNP	ENST00000394833.2	37	c.1083C>T	CCDS3656.1																																																																																				0.378	SLC39A8-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253798.1	NM_022154		7	42	0	0	0	1	0	7	42					A	103188797	G	A	103188797	2	1	435	1	0	0	0	0	0	0	0	1	14624	1310	46	3		3	SLC39A8	4	103188797	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	1187072	103188797	87965479	2389	23314											
NFKB1	4790	broad.mit.edu	37	chr4	103498131	103498131	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tataaggggctataatcctgGactcttggtgcaccctgacc	9	11	10	11	0	1	1	0	1	1	0	2	2	2	2	3	4	1	2	3	4	4	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:103498131G>A	ENST00000505458.1	+	7	780	c.503G>A	c.(502-504)gGa>gAa	p.G168E	NFKB1_ENST00000600343.1_5'Flank|NFKB1_ENST00000226574.4_Missense_Mutation_p.G169E|NFKB1_ENST00000394820.4_Missense_Mutation_p.G168E|NFKB1_ENST00000510638.1_3'UTR			P19838	NFKB1_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells 1	168	RHD. {ECO:0000255|PROSITE- ProRule:PRU00265}.				apoptotic process (GO:0006915)|cellular response to interleukin-1 (GO:0071347)|cellular response to interleukin-6 (GO:0071354)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to mechanical stimulus (GO:0071260)|cellular response to nicotine (GO:0071316)|cellular response to peptide hormone stimulus (GO:0071375)|Fc-epsilon receptor signaling pathway (GO:0038095)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|membrane protein intracellular domain proteolysis (GO:0031293)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of calcidiol 1-monooxygenase activity (GO:0010956)|negative regulation of cellular protein metabolic process (GO:0032269)|negative regulation of cholesterol transport (GO:0032375)|negative regulation of cytokine production (GO:0001818)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-12 biosynthetic process (GO:0045083)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of vitamin D biosynthetic process (GO:0010957)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of hyaluronan biosynthetic process (GO:1900127)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of miRNA metabolic process (GO:2000630)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|response to copper ion (GO:0046688)|response to oxidative stress (GO:0006979)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription from RNA polymerase II promoter (GO:0006366)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|I-kappaB/NF-kappaB complex (GO:0033256)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|nucleic acid binding transcription factor activity (GO:0001071)|regulatory region DNA binding (GO:0000975)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			biliary_tract(1)|breast(4)|endometrium(2)|large_intestine(6)|lung(7)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	27		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;6.59e-08)	Acetylsalicylic acid(DB00945)|Pranlukast(DB01411)|Thalidomide(DB01041)|Triflusal(DB08814)	TATAATCCTGGACTCTTGGTG	0.493																																						ENST00000226574.4																			0				biliary_tract(1)|breast(4)|endometrium(2)|large_intestine(6)|lung(7)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	27						c.(505-507)gGa>gAa		nuclear factor of kappa light polypeptide gene enhancer in B-cells 1	Dexamethasone(DB01234)|Pranlukast(DB01411)|Thalidomide(DB01041)						139	136	137					4																	103498131		2203	4300	6503	SO:0001583	missense	4790				anti-apoptosis|apoptosis|cellular response to mechanical stimulus|inflammatory response|innate immune response|membrane protein intracellular domain proteolysis|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of calcidiol 1-monooxygenase activity|nerve growth factor receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription, DNA-dependent|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription from RNA polymerase II promoter	cytosol|I-kappaB/NF-kappaB complex|mitochondrion|nucleoplasm	protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	g.chr4:103498131G>A	M58603	CCDS3657.1, CCDS54783.1	4q24	2013-01-10	2008-07-28		ENSG00000109320	ENSG00000109320		"Ankyrin repeat domain containing"	7794	protein-coding gene	gene with protein product		164011				1992489	Standard	NM_003998		Approved	KBF1, p105, NFKB-p50, p50, NF-kappaB, NFkappaB, NF-kB1	uc011cep.2	P19838	OTTHUMG00000161080	ENST00000505458.1:c.503G>A	4.37:g.103498131G>A	ENSP00000424790:p.Gly168Glu					NFKB1_ENST00000510638.1_3'UTR|NFKB1_ENST00000505458.1_Missense_Mutation_p.G168E|NFKB1_ENST00000394820.4_Missense_Mutation_p.G168E	p.G169E	NM_001165412.1|NM_003998.3	NP_001158884.1|NP_003989.2	P19838	NFKB1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;6.59e-08)	7	973	+		Hepatocellular(203;0.217)	168			RHD.		A8K5Y5|B3KVE8|Q68D84|Q86V43|Q8N4X7|Q9NZC0	Missense_Mutation	SNP	ENST00000505458.1	37	c.506G>A	CCDS54783.1	.	.	.	.	.	.	.	.	.	.	G	16.56	3.157277	0.57259	.	.	ENSG00000109320	ENST00000226574;ENST00000394820;ENST00000507079;ENST00000505458	T;T;T	0.37584	1.19;1.19;1.19	5.27	4.43	0.53597	Rel homology (3);p53-like transcription factor, DNA-binding (1);	0.126578	0.52532	N	0.000074	T	0.36303	0.0962	M	0.67397	2.05	0.51767	D	0.999934	B;B	0.23058	0.079;0.021	B;B	0.22152	0.038;0.009	T	0.25467	-1.0131	10	0.62326	D	0.03	.	9.5775	0.39468	0.0748:0.1417:0.7835:0.0	.	168;169	P19838;P19838-2	NFKB1_HUMAN;.	E	169;168;177;168	ENSP00000226574:G169E;ENSP00000378297:G168E;ENSP00000424790:G168E	ENSP00000226574:G169E	G	+	2	0	NFKB1	103717169	1.000000	0.71417	0.798000	0.32154	0.986000	0.74619	5.207000	0.65197	1.226000	0.43582	0.462000	0.41574	GGA		0.493	NFKB1-003	KNOWN	alternative_5_UTR|non_canonical_polymorphism|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000363411.1			21	27	0	0	0	1	0	21	27					A	103498131	G	A	103498131	3	1	435	1	0	0	0	0	1	0	0	0	10375	1174	41	3	528	3	NFKB1	4	103498131	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	309334	103498131	87656145	2390	23315											
NFKB1	4790	broad.mit.edu	37	chr4	103500131	103500131	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	catgtttacagcttttcttcCggatagcactggcagcttca	8	14	8	11	1	2	0	1	0	1	0	3	1	3	1	1	2	4	5	1	2	2	7			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:103500131C>T	ENST00000505458.1	+	8	939	c.662C>T	c.(661-663)cCg>cTg	p.P221L	NFKB1_ENST00000600343.1_Missense_Mutation_p.P41L|NFKB1_ENST00000226574.4_Missense_Mutation_p.P222L|NFKB1_ENST00000394820.4_Missense_Mutation_p.P221L|NFKB1_ENST00000510638.1_3'UTR			P19838	NFKB1_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells 1	221	RHD. {ECO:0000255|PROSITE- ProRule:PRU00265}.				apoptotic process (GO:0006915)|cellular response to interleukin-1 (GO:0071347)|cellular response to interleukin-6 (GO:0071354)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to mechanical stimulus (GO:0071260)|cellular response to nicotine (GO:0071316)|cellular response to peptide hormone stimulus (GO:0071375)|Fc-epsilon receptor signaling pathway (GO:0038095)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|membrane protein intracellular domain proteolysis (GO:0031293)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of calcidiol 1-monooxygenase activity (GO:0010956)|negative regulation of cellular protein metabolic process (GO:0032269)|negative regulation of cholesterol transport (GO:0032375)|negative regulation of cytokine production (GO:0001818)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-12 biosynthetic process (GO:0045083)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of vitamin D biosynthetic process (GO:0010957)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of hyaluronan biosynthetic process (GO:1900127)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of miRNA metabolic process (GO:2000630)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|response to copper ion (GO:0046688)|response to oxidative stress (GO:0006979)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription from RNA polymerase II promoter (GO:0006366)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|I-kappaB/NF-kappaB complex (GO:0033256)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|nucleic acid binding transcription factor activity (GO:0001071)|regulatory region DNA binding (GO:0000975)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			biliary_tract(1)|breast(4)|endometrium(2)|large_intestine(6)|lung(7)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	27		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;6.59e-08)	Acetylsalicylic acid(DB00945)|Pranlukast(DB01411)|Thalidomide(DB01041)|Triflusal(DB08814)	GCTTTTCTTCCGGATAGCACT	0.547																																						ENST00000226574.4																			0				biliary_tract(1)|breast(4)|endometrium(2)|large_intestine(6)|lung(7)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	27						c.(664-666)cCg>cTg		nuclear factor of kappa light polypeptide gene enhancer in B-cells 1	Dexamethasone(DB01234)|Pranlukast(DB01411)|Thalidomide(DB01041)						119	106	110					4																	103500131		2203	4300	6503	SO:0001583	missense	4790				anti-apoptosis|apoptosis|cellular response to mechanical stimulus|inflammatory response|innate immune response|membrane protein intracellular domain proteolysis|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of calcidiol 1-monooxygenase activity|nerve growth factor receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription, DNA-dependent|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription from RNA polymerase II promoter	cytosol|I-kappaB/NF-kappaB complex|mitochondrion|nucleoplasm	protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	g.chr4:103500131C>T	M58603	CCDS3657.1, CCDS54783.1	4q24	2013-01-10	2008-07-28		ENSG00000109320	ENSG00000109320		"Ankyrin repeat domain containing"	7794	protein-coding gene	gene with protein product		164011				1992489	Standard	NM_003998		Approved	KBF1, p105, NFKB-p50, p50, NF-kappaB, NFkappaB, NF-kB1	uc011cep.2	P19838	OTTHUMG00000161080	ENST00000505458.1:c.662C>T	4.37:g.103500131C>T	ENSP00000424790:p.Pro221Leu					NFKB1_ENST00000600343.1_Missense_Mutation_p.P41L|NFKB1_ENST00000510638.1_3'UTR|NFKB1_ENST00000505458.1_Missense_Mutation_p.P221L|NFKB1_ENST00000394820.4_Missense_Mutation_p.P221L	p.P222L	NM_001165412.1|NM_003998.3	NP_001158884.1|NP_003989.2	P19838	NFKB1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;6.59e-08)	8	1132	+		Hepatocellular(203;0.217)	221			RHD.		A8K5Y5|B3KVE8|Q68D84|Q86V43|Q8N4X7|Q9NZC0	Missense_Mutation	SNP	ENST00000505458.1	37	c.665C>T	CCDS54783.1	.	.	.	.	.	.	.	.	.	.	C	24.8	4.576141	0.86645	.	.	ENSG00000109320	ENST00000226574;ENST00000394820;ENST00000505458;ENST00000508584	T;T;T;T	0.45668	0.89;0.89;0.89;0.89	5.51	5.51	0.81932	Rel homology (3);p53-like transcription factor, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.38453	0.1041	L	0.48986	1.54	0.80722	D	1	P;P;P	0.52463	0.614;0.953;0.85	B;B;B	0.42138	0.052;0.377;0.225	T	0.29912	-0.9996	10	0.06625	T	0.88	.	19.4077	0.94655	0.0:1.0:0.0:0.0	.	41;221;222	B3KVE8;P19838;P19838-2	.;NFKB1_HUMAN;.	L	222;221;221;15	ENSP00000226574:P222L;ENSP00000378297:P221L;ENSP00000424790:P221L;ENSP00000424815:P15L	ENSP00000226574:P222L	P	+	2	0	NFKB1	103719169	0.997000	0.39634	0.873000	0.34254	0.985000	0.73830	3.748000	0.55142	2.589000	0.87451	0.585000	0.79938	CCG		0.547	NFKB1-003	KNOWN	alternative_5_UTR|non_canonical_polymorphism|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000363411.1			23	29	0	0	0	1	0	23	29					T	103500131	C	T	103500131	3	4	435	1	0	0	0	0	1	0	0	0	10375	652	23	2	691	2	NFKB1	4	103500131	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	2000	103500131	87654145	2391	23316											
NFKB1	4790	broad.mit.edu	37	chr4	103514669	103514669	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tagtggtgctggagctggagGcggaggcatgtttggtagtg	6	11	20	4	1	0	0	0	0	0	0	0	3	0	3	0	7	2	5	0	7	2	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:103514669G>A	ENST00000505458.1	+	12	1428	c.1151G>A	c.(1150-1152)gGc>gAc	p.G384D	NFKB1_ENST00000600343.1_Missense_Mutation_p.G204D|NFKB1_ENST00000226574.4_Missense_Mutation_p.G385D|NFKB1_ENST00000394820.4_Missense_Mutation_p.G384D			P19838	NFKB1_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells 1	384	GRR.|Gly-rich.				apoptotic process (GO:0006915)|cellular response to interleukin-1 (GO:0071347)|cellular response to interleukin-6 (GO:0071354)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to mechanical stimulus (GO:0071260)|cellular response to nicotine (GO:0071316)|cellular response to peptide hormone stimulus (GO:0071375)|Fc-epsilon receptor signaling pathway (GO:0038095)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|membrane protein intracellular domain proteolysis (GO:0031293)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of calcidiol 1-monooxygenase activity (GO:0010956)|negative regulation of cellular protein metabolic process (GO:0032269)|negative regulation of cholesterol transport (GO:0032375)|negative regulation of cytokine production (GO:0001818)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-12 biosynthetic process (GO:0045083)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of vitamin D biosynthetic process (GO:0010957)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of hyaluronan biosynthetic process (GO:1900127)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of miRNA metabolic process (GO:2000630)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|response to copper ion (GO:0046688)|response to oxidative stress (GO:0006979)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription from RNA polymerase II promoter (GO:0006366)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|I-kappaB/NF-kappaB complex (GO:0033256)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|nucleic acid binding transcription factor activity (GO:0001071)|regulatory region DNA binding (GO:0000975)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			biliary_tract(1)|breast(4)|endometrium(2)|large_intestine(6)|lung(7)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	27		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;6.59e-08)	Acetylsalicylic acid(DB00945)|Pranlukast(DB01411)|Thalidomide(DB01041)|Triflusal(DB08814)	GGAGCTGGAGGCGGAGGCATG	0.468																																						ENST00000226574.4																			0				biliary_tract(1)|breast(4)|endometrium(2)|large_intestine(6)|lung(7)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	27						c.(1153-1155)gGc>gAc		nuclear factor of kappa light polypeptide gene enhancer in B-cells 1	Dexamethasone(DB01234)|Pranlukast(DB01411)|Thalidomide(DB01041)						115	131	125					4																	103514669		2203	4300	6503	SO:0001583	missense	4790				anti-apoptosis|apoptosis|cellular response to mechanical stimulus|inflammatory response|innate immune response|membrane protein intracellular domain proteolysis|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of calcidiol 1-monooxygenase activity|nerve growth factor receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription, DNA-dependent|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription from RNA polymerase II promoter	cytosol|I-kappaB/NF-kappaB complex|mitochondrion|nucleoplasm	protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	g.chr4:103514669G>A	M58603	CCDS3657.1, CCDS54783.1	4q24	2013-01-10	2008-07-28		ENSG00000109320	ENSG00000109320		"Ankyrin repeat domain containing"	7794	protein-coding gene	gene with protein product		164011				1992489	Standard	NM_003998		Approved	KBF1, p105, NFKB-p50, p50, NF-kappaB, NFkappaB, NF-kB1	uc011cep.2	P19838	OTTHUMG00000161080	ENST00000505458.1:c.1151G>A	4.37:g.103514669G>A	ENSP00000424790:p.Gly384Asp					NFKB1_ENST00000600343.1_Missense_Mutation_p.G204D|NFKB1_ENST00000505458.1_Missense_Mutation_p.G384D|NFKB1_ENST00000394820.4_Missense_Mutation_p.G384D	p.G385D	NM_001165412.1|NM_003998.3	NP_001158884.1|NP_003989.2	P19838	NFKB1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;6.59e-08)	12	1621	+		Hepatocellular(203;0.217)	384			GRR.|Gly-rich.		A8K5Y5|B3KVE8|Q68D84|Q86V43|Q8N4X7|Q9NZC0	Missense_Mutation	SNP	ENST00000505458.1	37	c.1154G>A	CCDS54783.1	.	.	.	.	.	.	.	.	.	.	G	20.5	3.997603	0.74818	.	.	ENSG00000109320	ENST00000226574;ENST00000394820;ENST00000505458;ENST00000508584	T;T;T;T	0.56103	0.51;0.48;0.48;1.58	4.74	4.74	0.60224	Immunoglobulin E-set (1);	0.236840	0.31404	N	0.007717	T	0.65749	0.2721	L	0.53249	1.67	0.46564	D	0.9991	D;D;D	0.63046	0.992;0.99;0.979	P;P;P	0.59761	0.863;0.734;0.837	T	0.69847	-0.5034	10	0.66056	D	0.02	.	17.7398	0.88404	0.0:0.0:1.0:0.0	.	204;384;385	B3KVE8;P19838;P19838-2	.;NFKB1_HUMAN;.	D	385;384;384;178	ENSP00000226574:G385D;ENSP00000378297:G384D;ENSP00000424790:G384D;ENSP00000424815:G178D	ENSP00000226574:G385D	G	+	2	0	NFKB1	103733707	1.000000	0.71417	0.998000	0.56505	0.739000	0.42172	4.705000	0.61838	2.165000	0.68154	0.462000	0.41574	GGC		0.468	NFKB1-003	KNOWN	alternative_5_UTR|non_canonical_polymorphism|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000363411.1			6	91	0	0	0	1	0	6	91					A	103514669	G	A	103514669	3	1	435	1	0	0	0	0	1	0	0	0	10375	1203	42	3	1196	3	NFKB1	4	103514669	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	14538	103514669	87639607	2392	23317											
NHEDC1	150159	broad.mit.edu	37	chr4	103822451	103822451	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggttccaagtggggtgcggaGactcttgctgtttctagagc	6	12	15	8	1	2	2	0	0	2	2	3	3	3	2	1	4	3	3	1	4	2	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:103822451G>T	ENST00000296422.7	-	12	1512	c.1371C>A	c.(1369-1371)gtC>gtA	p.V457V	SLC9B1_ENST00000512651.2_5'UTR|SLC9B1_ENST00000394789.3_Intron	NM_139173.3	NP_631912	Q4ZJI4	SL9B1_HUMAN	solute carrier family 9, subfamily B (NHA1, cation proton antiporter 1), member 1	457					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	solute:proton antiporter activity (GO:0015299)										GGGGTGCGGAGACTCTTGCTG	0.423																																						ENST00000296422.7																			0											c.(1369-1371)gtC>gtA		solute carrier family 9, subfamily B (NHA1, cation proton antiporter 1), member 1							79	81	80					4																	103822451		2185	4268	6453	SO:0001819	synonymous_variant	150159					integral to membrane	solute:hydrogen antiporter activity	g.chr4:103822451G>T	AF447585	CCDS34041.1, CCDS47119.1	4q24	2013-05-22	2012-03-22	2011-07-26	ENSG00000164037	ENSG00000164037		"Solute carriers"	24244	protein-coding gene	gene with protein product		611527	"Na+/H+ exchanger domain containing 1", "solute carrier family 9, subfamily B (cation proton antiporter 2), member 1"	NHEDC1		16850186	Standard	NM_139173		Approved	NHA1	uc003hww.3	Q4ZJI4	OTTHUMG00000161114	ENST00000296422.7:c.1371C>A	4.37:g.103822451G>T						SLC9B1_ENST00000512651.2_5'UTR|SLC9B1_ENST00000394789.3_Intron	p.V457V	NM_139173.3	NP_631912.2	Q4ZJI4	NHDC1_HUMAN			12	1512	-			457					A1KXV1|B9EH04|C9JBP7|Q49A30|Q8NCV2|Q8WVZ0	Silent	SNP	ENST00000296422.7	37	c.1371C>A	CCDS34041.1																																																																																				0.423	SLC9B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363841.1	NM_139173		8	144	1	0	0.000978159	1	0.000994766	8	144					T	103822451	G	T	103822451	2	4	435	1	0	0	0	0	0	0	0	1	10400	929	33	5		5	NHEDC1	4	103822451	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	307782	103822451	87331825	2393	23318											
NHEDC2	133308	broad.mit.edu	37	chr4	103947622	103947622	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcccagtaaaccaataagcaGacttccaattggggctgtga	13	8	10	10	0	0	2	0	1	0	1	1	2	1	2	3	2	2	3	3	2	5	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:103947622G>A	ENST00000394785.3	-	12	2150	c.1519C>T	c.(1519-1521)Ctg>Ttg	p.L507L	SLC9B2_ENST00000503103.1_Missense_Mutation_p.S404F|SLC9B2_ENST00000362026.3_Silent_p.L507L|SLC9B2_ENST00000503230.1_Silent_p.L450L|SLC9B2_ENST00000339611.4_Intron	NM_178833.4	NP_849155.2	Q86UD5	SL9B2_HUMAN	solute carrier family 9, subfamily B (NHA2, cation proton antiporter 2), member 2	507					ion transmembrane transport (GO:0034220)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)	solute:proton antiporter activity (GO:0015299)										CCAATAAGCAGACTTCCAATT	0.433																																						ENST00000503103.1																			0											c.(1210-1212)tCt>tTt		solute carrier family 9, subfamily B (NHA2, cation proton antiporter 2), member 2							117	116	116					4																	103947622		2203	4300	6503	SO:0001819	synonymous_variant	133308				sodium ion transport	integral to membrane|mitochondrial membrane	solute:hydrogen antiporter activity	g.chr4:103947622G>A	AK172823	CCDS3662.1, CCDS75173.1, CCDS75174.1	4q24	2013-05-22	2012-03-22	2011-08-03	ENSG00000164038	ENSG00000164038		"Solute carriers"	25143	protein-coding gene	gene with protein product		611789	"Na+/H+ exchanger domain containing 2", "solute carrier family 9, subfamily B (cation proton antiporter 2), member 2"	NHEDC2		18600791	Standard	XM_005262758		Approved	FLJ23984, NHA2	uc003hwy.3	Q86UD5	OTTHUMG00000131125	ENST00000394785.3:c.1519C>T	4.37:g.103947622G>A						SLC9B2_ENST00000362026.3_Silent_p.L507L|SLC9B2_ENST00000394785.3_Silent_p.L507L|SLC9B2_ENST00000339611.4_Intron|SLC9B2_ENST00000503230.1_Silent_p.L450L	p.S404F			Q86UD5	NHDC2_HUMAN			10	1401	-			0					B5ME52|Q6ZMD8|Q96D95	Missense_Mutation	SNP	ENST00000394785.3	37	c.1211C>T	CCDS3662.1	.	.	.	.	.	.	.	.	.	.	G	16.76	3.213379	0.58452	.	.	ENSG00000164038	ENST00000503103	T	0.26660	1.72	5.13	5.13	0.70059	.	.	.	.	.	T	0.30135	0.0755	.	.	.	0.80722	D	1	P	0.42409	0.779	B	0.42462	0.388	T	0.08576	-1.0715	8	0.87932	D	0	-9.0368	13.9389	0.64043	0.0758:0.0:0.9242:0.0	.	404	B7Z676	.	F	404	ENSP00000425385:S404F	ENSP00000425385:S404F	S	-	2	0	SLC9B2	104167071	1.000000	0.71417	0.939000	0.37840	0.983000	0.72400	2.702000	0.47102	2.356000	0.79943	0.585000	0.79938	TCT		0.433	SLC9B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253805.1	NM_178833		30	53	0	0	0	1	0	30	53					A	103947622	G	A	103947622	2	1	435	1	0	0	0	0	0	0	0	1	10401	933	33	3		3	NHEDC2	4	103947622	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	125171	103947622	87206654	2394	23319											
NHEDC2	133308	broad.mit.edu	37	chr4	103970157	103970157	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atggacagtcttacacaaacGccctttaacttcttcagggc	11	11	7	12	1	3	0	1	0	2	0	3	1	3	1	1	2	3	0	1	2	3	5	rs376080494		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:103970157G>A	ENST00000394785.3	-	6	1237	c.606C>T	c.(604-606)ggC>ggT	p.G202G	SLC9B2_ENST00000503103.1_Silent_p.G145G|SLC9B2_ENST00000362026.3_Silent_p.G202G|SLC9B2_ENST00000503230.1_Silent_p.G145G|SLC9B2_ENST00000339611.4_Silent_p.G202G	NM_178833.4	NP_849155.2	Q86UD5	SL9B2_HUMAN	solute carrier family 9, subfamily B (NHA2, cation proton antiporter 2), member 2	202					ion transmembrane transport (GO:0034220)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)	solute:proton antiporter activity (GO:0015299)	p.G202G(6)									TTACACAAACGCCCTTTAACT	0.448																																						ENST00000394785.3																			6	Substitution - coding silent(6)	p.G202G(6)	large_intestine(2)|lung(2)|endometrium(2)								c.(604-606)ggC>ggT		solute carrier family 9, subfamily B (NHA2, cation proton antiporter 2), member 2							100	87	91					4																	103970157		2203	4300	6503	SO:0001819	synonymous_variant	133308				sodium ion transport	integral to membrane|mitochondrial membrane	solute:hydrogen antiporter activity	g.chr4:103970157G>A	AK172823	CCDS3662.1, CCDS75173.1, CCDS75174.1	4q24	2013-05-22	2012-03-22	2011-08-03	ENSG00000164038	ENSG00000164038		"Solute carriers"	25143	protein-coding gene	gene with protein product		611789	"Na+/H+ exchanger domain containing 2", "solute carrier family 9, subfamily B (cation proton antiporter 2), member 2"	NHEDC2		18600791	Standard	XM_005262758		Approved	FLJ23984, NHA2	uc003hwy.3	Q86UD5	OTTHUMG00000131125	ENST00000394785.3:c.606C>T	4.37:g.103970157G>A						SLC9B2_ENST00000362026.3_Silent_p.G202G|SLC9B2_ENST00000339611.4_Silent_p.G202G|SLC9B2_ENST00000503230.1_Silent_p.G145G|SLC9B2_ENST00000503103.1_Silent_p.G145G	p.G202G	NM_178833.4	NP_849155.2	Q86UD5	NHDC2_HUMAN			6	1237	-			202					B5ME52|Q6ZMD8|Q96D95	Silent	SNP	ENST00000394785.3	37	c.606C>T	CCDS3662.1																																																																																				0.448	SLC9B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253805.1	NM_178833		20	17	0	0	0	1	0	20	17					A	103970157	G	A	103970157	2	1	435	1	0	0	0	0	0	0	0	1	10401	1074	38	1		1	NHEDC2	4	103970157	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	22535	103970157	87184119	2395	23320											
CENPE	1062	broad.mit.edu	37	chr4	104030070	104030070	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttggtgattcctttggcacaGgatcttgtaaattccgttcc	7	16	9	9	1	1	1	0	1	1	0	4	2	4	2	3	3	0	3	3	3	2	7			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:104030070G>T	ENST00000265148.3	-	48	7990	c.7901C>A	c.(7900-7902)cCt>cAt	p.P2634H	CENPE_ENST00000380026.3_Missense_Mutation_p.P2513H	NM_001813.2	NP_001804.2	Q02224	CENPE_HUMAN	centromere protein E, 312kDa	2634	Globular autoinhibitory domain. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|kinetochore assembly (GO:0051382)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic chromosome movement towards spindle pole (GO:0007079)|mitotic metaphase plate congression (GO:0007080)|multicellular organismal development (GO:0007275)|positive regulation of protein kinase activity (GO:0045860)|regulation of mitotic metaphase/anaphase transition (GO:0030071)	chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|condensed chromosome outer kinetochore (GO:0000940)|condensed chromosome, centromeric region (GO:0000779)|condensed nuclear chromosome kinetochore (GO:0000778)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|midbody (GO:0030496)|mitotic spindle midzone (GO:1990023)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|kinetochore binding (GO:0043515)|microtubule motor activity (GO:0003777)			NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3)	101				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)		CTTTGGCACAGGATCTTGTAA	0.383																																						ENST00000265148.3																			0				NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3)	101						c.(7900-7902)cCt>cAt		centromere protein E, 312kDa							190	187	188					4																	104030070		2203	4300	6503	SO:0001583	missense	1062				blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity	condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle	ATP binding|kinetochore binding|microtubule motor activity	g.chr4:104030070G>T	Z15005	CCDS34042.1, CCDS68768.1	4q24-q25	2013-11-05	2002-08-29			ENSG00000138778		"Kinesins", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	1856	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 61"	117143	"centromere protein E (312kD)"			7851898	Standard	NM_001286734		Approved	KIF10, PPP1R61	uc003hxb.1	Q02224		ENST00000265148.3:c.7901C>A	4.37:g.104030070G>T	ENSP00000265148:p.Pro2634His					CENPE_ENST00000380026.3_Missense_Mutation_p.P2513H	p.P2634H	NM_001813.2	NP_001804.2	Q02224	CENPE_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)	48	7990	-			2634			Globular autoinhibitory domain (By similarity).		A6NKY9|A8K2U7|Q4LE75	Missense_Mutation	SNP	ENST00000265148.3	37	c.7901C>A	CCDS34042.1	.	.	.	.	.	.	.	.	.	.	G	13.08	2.130922	0.37630	.	.	ENSG00000138778	ENST00000265148;ENST00000380026	T;T	0.70869	-0.52;-0.49	4.95	3.21	0.36854	.	.	.	.	.	T	0.73659	0.3615	L	0.51422	1.61	0.09310	N	1	D;D	0.61697	0.99;0.983	P;P	0.56474	0.799;0.635	T	0.62044	-0.6937	9	0.56958	D	0.05	.	8.5929	0.33699	0.1579:0.0:0.8421:0.0	.	2513;2634	Q02224-3;Q02224	.;CENPE_HUMAN	H	2634;2513	ENSP00000265148:P2634H;ENSP00000369365:P2513H	ENSP00000265148:P2634H	P	-	2	0	CENPE	104249519	0.036000	0.19791	0.080000	0.20451	0.583000	0.36354	1.588000	0.36633	0.500000	0.27991	0.655000	0.94253	CCT		0.383	CENPE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				35	60	1	0	6.84511e-11	1	7.33645e-11	35	60					T	104030070	G	T	104030070	3	4	435	1	0	0	0	0	1	0	0	0	3230	1000	35	5	212	5	CENPE	4	104030070	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	59913	104030070	87124206	2396	23321											
TET2	54790	broad.mit.edu	37	chr4	106156139	106156139	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccagggaaccacaaagctagCgtctggtgaagaattctgtt	12	9	11	9	1	2	2	0	1	2	1	2	3	2	3	2	2	3	2	2	2	5	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:106156139C>T	ENST00000540549.1	+	3	1900	c.1040C>T	c.(1039-1041)gCg>gTg	p.A347V	TET2_ENST00000380013.4_Missense_Mutation_p.A347V|TET2_ENST00000513237.1_Missense_Mutation_p.A368V|TET2_ENST00000305737.2_Missense_Mutation_p.A347V|TET2_ENST00000394764.1_Missense_Mutation_p.A347V|TET2_ENST00000413648.2_Missense_Mutation_p.A347V|TET2_ENST00000545826.1_Missense_Mutation_p.A347V			Q6N021	TET2_HUMAN	tet methylcytosine dioxygenase 2	347					5-methylcytosine catabolic process (GO:0006211)|cell cycle (GO:0007049)|DNA demethylation (GO:0080111)|histone H3-K4 trimethylation (GO:0080182)|kidney development (GO:0001822)|myeloid cell differentiation (GO:0030099)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic development (GO:0009791)|protein O-linked glycosylation (GO:0006493)		DNA binding (GO:0003677)|ferrous iron binding (GO:0008198)|methylcytosine dioxygenase activity (GO:0070579)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1272)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	1314		Myeloproliferative disorder(5;0.0393)		OV - Ovarian serous cystadenocarcinoma(123;7.18e-08)		ACAAAGCTAGCGTCTGGTGAA	0.413			"Mis N, F"		MDS																																	ENST00000513237.1				Rec	yes		4	4q24	54790	"Mis N, F"	tet oncogene family member 2			L			MDS		0				NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1272)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	1314						c.(1102-1104)gCg>gTg		tet methylcytosine dioxygenase 2							64	60	61					4																	106156139		2203	4300	6503	SO:0001583	missense	54790				cell cycle|myeloid cell differentiation		metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr4:106156139C>T	AB046766	CCDS3666.1, CCDS47120.1	4q24	2014-09-17	2011-09-30	2008-03-12	ENSG00000168769	ENSG00000168769			25941	protein-coding gene	gene with protein product		612839	"KIAA1546", "tet oncogene family member 2"	KIAA1546		10997877, 12646957	Standard	NM_017628		Approved	FLJ20032	uc003hxk.3	Q6N021	OTTHUMG00000131213	ENST00000540549.1:c.1040C>T	4.37:g.106156139C>T	ENSP00000442788:p.Ala347Val					TET2_ENST00000413648.2_Missense_Mutation_p.A347V|TET2_ENST00000545826.1_Missense_Mutation_p.A347V|TET2_ENST00000394764.1_Missense_Mutation_p.A347V|TET2_ENST00000305737.2_Missense_Mutation_p.A347V|TET2_ENST00000540549.1_Missense_Mutation_p.A347V|TET2_ENST00000380013.4_Missense_Mutation_p.A347V	p.A368V			Q6N021	TET2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;7.18e-08)	3	1900	+		Myeloproliferative disorder(5;0.0393)	347					B5MDU0|Q2TB88|Q3LIB8|Q96JX5|Q9HCM6|Q9NXW0	Missense_Mutation	SNP	ENST00000540549.1	37	c.1103C>T	CCDS47120.1	.	.	.	.	.	.	.	.	.	.	C	1.659	-0.512036	0.04200	.	.	ENSG00000168769	ENST00000305737;ENST00000540549;ENST00000545826;ENST00000513237;ENST00000380013;ENST00000394764;ENST00000413648;ENST00000535110	T;T;T;T;T;T;T	0.02890	4.13;4.73;4.12;4.72;4.73;4.13;4.13	4.98	-5.59	0.02505	.	33.584800	0.00166	N	0.000000	T	0.00967	0.0032	N	0.01874	-0.695	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.40869	-0.9540	10	0.02654	T	1	.	1.7618	0.02994	0.1347:0.31:0.1273:0.4281	.	368;347;347	E7EQS8;Q6N021;Q6N021-2	.;TET2_HUMAN;.	V	347;347;347;368;347;347;347;347	ENSP00000306705:A347V;ENSP00000442788:A347V;ENSP00000442867:A347V;ENSP00000425443:A368V;ENSP00000369351:A347V;ENSP00000378245:A347V;ENSP00000391448:A347V	ENSP00000265149:A347V	A	+	2	0	TET2	106375588	0.000000	0.05858	0.000000	0.03702	0.926000	0.56050	-0.159000	0.10056	-1.169000	0.02772	-0.290000	0.09829	GCG		0.413	TET2-202	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253952.2	NM_017628		15	28	0	0	0	1	0	15	28					T	106156139	C	T	106156139	3	4	435	1	0	0	0	0	1	0	0	0	15767	768	27	1	1042	1	TET2	4	106156139	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	2126069	106156139	84998137	2397	23322											
NPNT	255743	broad.mit.edu	37	chr4	106859520	106859520	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atgttgttaaaggacaaataCggtgccagtgcccatcccct	11	10	9	11	1	0	0	0	0	0	0	1	1	1	1	4	2	3	2	4	2	4	3	rs145340246		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:106859520C>T	ENST00000379987.2	+	5	664	c.448C>T	c.(448-450)Cgg>Tgg	p.R150W	NPNT_ENST00000514622.1_Missense_Mutation_p.R150W|NPNT_ENST00000305572.8_Missense_Mutation_p.R150W|NPNT_ENST00000506666.1_Missense_Mutation_p.R180W|NPNT_ENST00000453617.2_Missense_Mutation_p.R167W|NPNT_ENST00000427316.2_Missense_Mutation_p.R180W	NM_001033047.2	NP_001028219.1	Q6UXI9	NPNT_HUMAN	nephronectin	150	EGF-like 3. {ECO:0000255|PROSITE- ProRule:PRU00076}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cell-cell adhesion mediated by integrin (GO:0033631)|cell-matrix adhesion (GO:0007160)|cellular response to tumor necrosis factor (GO:0071356)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|pilomotor reflex (GO:0097195)|positive regulation of alkaline phosphatase activity (GO:0010694)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation (GO:2000721)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|ureteric bud development (GO:0001657)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|integrin alpha8-beta1 complex (GO:0034678)|proteinaceous extracellular matrix (GO:0005578)|smooth muscle contractile fiber (GO:0030485)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)			kidney(5)|large_intestine(2)|lung(10)|prostate(2)|skin(1)|urinary_tract(1)	21		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;5.41e-07)		AGGACAAATACGGTGCCAGTG	0.532													C|||	1	0.000199681	8e-04	0	5008	,	,		17027	0		0	False		,,,				2504	0					ENST00000379987.2																			0				kidney(5)|large_intestine(2)|lung(10)|prostate(2)|skin(1)|urinary_tract(1)	21						c.(448-450)Cgg>Tgg		nephronectin		C	TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG	20,4386	27.2+/-55.0	0,20,2183	92	82	86		448,499,538,448,538	4.4	0.3	4	dbSNP_134	86	0,8600		0,0,4300	yes	missense,missense,missense,missense,missense	NPNT	NM_001033047.2,NM_001184690.1,NM_001184691.1,NM_001184692.1,NM_001184693.1	101,101,101,101,101	0,20,6483	TT,TC,CC		0.0,0.4539,0.1538	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	150/566,167/583,180/596,150/537,180/567	106859520	20,12986	2203	4300	6503	SO:0001583	missense	255743				cell differentiation	membrane	calcium ion binding	g.chr4:106859520C>T		CCDS34046.1, CCDS54784.1, CCDS54785.1, CCDS54786.1, CCDS54787.1	4q25	2005-10-07							27405	protein-coding gene	gene with protein product		610306				15754038	Standard	NM_001033047		Approved	EGFL6L, POEM	uc011cfd.2	Q6UXI9		ENST00000379987.2:c.448C>T	4.37:g.106859520C>T	ENSP00000369323:p.Arg150Trp					NPNT_ENST00000506666.1_Missense_Mutation_p.R180W|NPNT_ENST00000453617.2_Missense_Mutation_p.R167W|NPNT_ENST00000514622.1_Missense_Mutation_p.R150W|NPNT_ENST00000427316.2_Missense_Mutation_p.R180W|NPNT_ENST00000305572.8_Missense_Mutation_p.R150W	p.R150W	NM_001033047.2	NP_001028219.1	Q6UXI9	NPNT_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;5.41e-07)	5	664	+		Hepatocellular(203;0.217)	150			EGF-like 3.		A6NFT9|A8K1W4|B4DIT4|B4DYK3|B4E2H7|B4E3H2|D6RCA1|E9PCK8|E9PCQ1|E9PE64|E9PF04	Missense_Mutation	SNP	ENST00000379987.2	37	c.448C>T	CCDS34046.1	1|1	4.578754578754579E-4|4.578754578754579E-4	1|1	0.0020325203252032522|0.0020325203252032522	0|0	0.0|0.0	0|0	0.0|0.0	0|0	0.0|0.0	C|C	16.39|16.39	3.111057|3.111057	0.56398|0.56398	0.004539|0.004539	0.0|0.0	ENSG00000168743|ENSG00000168743	ENST00000504304;ENST00000379987;ENST00000453617;ENST00000427316;ENST00000514622;ENST00000305572;ENST00000506666;ENST00000503451|ENST00000514837	D;D;D;T;D;D;T;T|.	0.87809|.	-2.3;-2.3;-2.3;-1.1;-2.3;-2.3;-1.11;-0.27|.	5.22|5.22	4.37|4.37	0.52481|0.52481	Epidermal growth factor-like (1);|.	0.052801|.	0.85682|.	D|.	0.000000|.	D|D	0.82572|0.82572	0.5066|0.5066	M|M	0.89095|0.89095	3.005|3.005	0.58432|0.58432	D|D	0.999998|0.999998	D;D;D;D;D;D;D|.	0.89917|.	1.0;1.0;1.0;0.999;1.0;1.0;1.0|.	D;D;D;D;D;D;D|.	0.78314|.	0.989;0.973;0.982;0.973;0.982;0.984;0.991|.	D|D	0.85935|0.85935	0.1454|0.1454	10|5	0.72032|.	D|.	0.01|.	.|.	15.5699|15.5699	0.76326|0.76326	0.1391:0.8609:0.0:0.0|0.1391:0.8609:0.0:0.0	.|.	150;180;180;167;197;150;150|.	E9PF04;E9PE64;E9PCQ1;E9PCK8;D6RH31;Q6UXI9-2;Q6UXI9|.	.;.;.;.;.;.;NPNT_HUMAN|.	W|M	46;150;167;180;150;150;180;197|126	ENSP00000426951:R46W;ENSP00000369323:R150W;ENSP00000402884:R167W;ENSP00000389252:R180W;ENSP00000422044:R150W;ENSP00000302557:R150W;ENSP00000422474:R180W;ENSP00000426146:R197W|.	ENSP00000302557:R150W|.	R|T	+|+	1|2	2|0	NPNT|NPNT	107078969|107078969	1.000000|1.000000	0.71417|0.71417	0.260000|0.260000	0.24451|0.24451	0.132000|0.132000	0.20833|0.20833	4.486000|4.486000	0.60286|0.60286	1.319000|1.319000	0.45190|0.45190	-0.152000|-0.152000	0.13540|0.13540	CGG|ACG		0.532	NPNT-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000364083.1	NM_198278		18	37	0	0	0	1	0	18	37					T	106859520	C	T	106859520	3	4	435	1	0	0	0	0	1	0	0	0	10590	527	19	1	615	1	NPNT	4	106859520	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	703381	106859520	84294756	2398	23323											
NPNT	255743	broad.mit.edu	37	chr4	106888398	106888398	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccccagggggaaaagctgcaCgcttggtgctacctctcggc	7	7	13	14	2	1	0	0	0	1	0	2	1	1	1	3	4	4	4	3	4	3	2	rs371602917		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:106888398C>T	ENST00000379987.2	+	11	1615	c.1399C>T	c.(1399-1401)Cgc>Tgc	p.R467C	NPNT_ENST00000514622.1_Missense_Mutation_p.R438C|NPNT_ENST00000305572.8_Missense_Mutation_p.R438C|NPNT_ENST00000506666.1_Missense_Mutation_p.R468C|NPNT_ENST00000453617.2_Missense_Mutation_p.R484C|NPNT_ENST00000427316.2_Missense_Mutation_p.R497C	NM_001033047.2	NP_001028219.1	Q6UXI9	NPNT_HUMAN	nephronectin	467	MAM. {ECO:0000255|PROSITE- ProRule:PRU00128}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cell-cell adhesion mediated by integrin (GO:0033631)|cell-matrix adhesion (GO:0007160)|cellular response to tumor necrosis factor (GO:0071356)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|pilomotor reflex (GO:0097195)|positive regulation of alkaline phosphatase activity (GO:0010694)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation (GO:2000721)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|ureteric bud development (GO:0001657)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|integrin alpha8-beta1 complex (GO:0034678)|proteinaceous extracellular matrix (GO:0005578)|smooth muscle contractile fiber (GO:0030485)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)	p.R467C(1)		kidney(5)|large_intestine(2)|lung(10)|prostate(2)|skin(1)|urinary_tract(1)	21		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;5.41e-07)		AAAAGCTGCACGCTTGGTGCT	0.572																																						ENST00000379987.2																			1	Substitution - Missense(1)	p.R467C(1)	prostate(1)	kidney(5)|large_intestine(2)|lung(10)|prostate(2)|skin(1)|urinary_tract(1)	21						c.(1399-1401)Cgc>Tgc		nephronectin							41	43	42					4																	106888398		2203	4300	6503	SO:0001583	missense	255743				cell differentiation	membrane	calcium ion binding	g.chr4:106888398C>T		CCDS34046.1, CCDS54784.1, CCDS54785.1, CCDS54786.1, CCDS54787.1	4q25	2005-10-07							27405	protein-coding gene	gene with protein product		610306				15754038	Standard	NM_001033047		Approved	EGFL6L, POEM	uc011cfd.2	Q6UXI9		ENST00000379987.2:c.1399C>T	4.37:g.106888398C>T	ENSP00000369323:p.Arg467Cys					NPNT_ENST00000506666.1_Missense_Mutation_p.R468C|NPNT_ENST00000453617.2_Missense_Mutation_p.R484C|NPNT_ENST00000514622.1_Missense_Mutation_p.R438C|NPNT_ENST00000427316.2_Missense_Mutation_p.R497C|NPNT_ENST00000305572.8_Missense_Mutation_p.R438C	p.R467C	NM_001033047.2	NP_001028219.1	Q6UXI9	NPNT_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;5.41e-07)	11	1615	+		Hepatocellular(203;0.217)	467			MAM.		A6NFT9|A8K1W4|B4DIT4|B4DYK3|B4E2H7|B4E3H2|D6RCA1|E9PCK8|E9PCQ1|E9PE64|E9PF04	Missense_Mutation	SNP	ENST00000379987.2	37	c.1399C>T	CCDS34046.1	.	.	.	.	.	.	.	.	.	.	C	18.89	3.719385	0.68844	.	.	ENSG00000168743	ENST00000379987;ENST00000453617;ENST00000427316;ENST00000514622;ENST00000305572;ENST00000506666;ENST00000503451	T;T;T;T;T;T;T	0.02631	4.22;4.22;4.22;4.22;4.22;4.22;4.22	4.65	4.65	0.58169	Concanavalin A-like lectin/glucanase (1);MAM domain (2);	0.179037	0.50627	D	0.000103	T	0.20981	0.0505	M	0.89785	3.06	0.58432	D	0.999998	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.85130	0.963;0.996;0.997;0.997;0.938;0.997	T	0.07578	-1.0765	10	0.87932	D	0	.	17.8945	0.88883	0.0:1.0:0.0:0.0	.	438;468;497;484;438;467	E9PF04;E9PE64;E9PCQ1;E9PCK8;Q6UXI9-2;Q6UXI9	.;.;.;.;.;NPNT_HUMAN	C	467;484;497;438;438;468;514	ENSP00000369323:R467C;ENSP00000402884:R484C;ENSP00000389252:R497C;ENSP00000422044:R438C;ENSP00000302557:R438C;ENSP00000422474:R468C;ENSP00000426146:R514C	ENSP00000302557:R438C	R	+	1	0	NPNT	107107847	1.000000	0.71417	0.929000	0.37066	0.273000	0.26683	5.309000	0.65774	2.294000	0.77228	0.650000	0.86243	CGC		0.572	NPNT-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000364083.1	NM_198278		6	23	0	0	0	1	0	6	23					T	106888398	C	T	106888398	3	4	435	1	0	0	0	0	1	0	0	0	10590	536	19	1	1590	1	NPNT	4	106888398	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	28878	106888398	84265878	2399	23324											
TBCK	93627	broad.mit.edu	37	chr4	107157635	107157635	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagggagcgtggcagctgcaGacaactcattattgctgttt	10	11	12	8	1	1	1	1	0	0	1	1	2	1	2	0	2	5	5	0	2	3	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:107157635G>T	ENST00000273980.5	-	15	1709	c.1262C>A	c.(1261-1263)tCt>tAt	p.S421Y	TBCK_ENST00000394708.2_Missense_Mutation_p.S421Y|TBCK_ENST00000394706.3_Missense_Mutation_p.S382Y|TBCK_ENST00000432496.2_Missense_Mutation_p.S421Y|TBCK_ENST00000361687.4_Missense_Mutation_p.S358Y					TBC1 domain containing kinase											NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)	25						GGCAGCTGCAGACAACTCATT	0.353																																						ENST00000273980.4																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)	25						c.(1261-1263)tCt>tAt		TBC1 domain containing kinase							60	61	60					4																	107157635		2203	4300	6503	SO:0001583	missense	93627					intracellular	Rab GTPase activator activity	g.chr4:107157635G>T		CCDS3673.1, CCDS54788.1, CCDS54789.1	4q24	2014-09-17			ENSG00000145348	ENSG00000145348			28261	protein-coding gene	gene with protein product						12471243	Standard	XR_427553		Approved	MGC16169, HSPC302	uc010ilv.2	Q8TEA7	OTTHUMG00000131214	ENST00000273980.5:c.1262C>A	4.37:g.107157635G>T	ENSP00000273980:p.Ser421Tyr					TBCK_ENST00000432496.2_Missense_Mutation_p.S421Y|TBCK_ENST00000361687.4_Missense_Mutation_p.S358Y|TBCK_ENST00000394708.2_Missense_Mutation_p.S421Y|TBCK_ENST00000394706.3_Missense_Mutation_p.S382Y	p.S421Y			Q8TEA7	TBCK_HUMAN			15	1709	-			421						Missense_Mutation	SNP	ENST00000273980.5	37	c.1262C>A	CCDS54788.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.112746	0.77210	.	.	ENSG00000145348	ENST00000273980;ENST00000432496;ENST00000361687;ENST00000394706;ENST00000394708	T;T;T;T;T	0.07908	3.15;3.15;3.15;3.15;3.15	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	T	0.28400	0.0702	L	0.56769	1.78	0.80722	D	1	B;D;B	0.89917	0.226;1.0;0.335	B;D;B	0.76575	0.179;0.988;0.333	T	0.00050	-1.2197	10	0.52906	T	0.07	.	20.2169	0.98300	0.0:0.0:1.0:0.0	.	421;382;358	Q8TEA7;Q8TEA7-2;Q8TEA7-3	TBCK_HUMAN;.;.	Y	421;421;358;382;421	ENSP00000273980:S421Y;ENSP00000405847:S421Y;ENSP00000355338:S358Y;ENSP00000378196:S382Y;ENSP00000378198:S421Y	ENSP00000273980:S421Y	S	-	2	0	TBCK	107377084	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	9.614000	0.98353	2.774000	0.95407	0.643000	0.83706	TCT		0.353	TBCK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253953.4	NM_033115		14	30	1	0	4.3838e-07	1	4.58243e-07	14	30					T	107157635	G	T	107157635	3	4	435	1	0	0	0	0	1	0	0	0	15633	942	33	5	1471	5	TBCK	4	107157635	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	269237	107157635	83996641	2400	23325											
CYP2U1	113612	broad.mit.edu	37	chr4	108866737	108866737	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgctctggtgcctgctgtatAtgtcgctgaaccccgatgta	6	13	11	11	2	1	1	0	1	1	0	2	2	1	1	3	1	4	5	3	1	4	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:108866737A>G	ENST00000332884.6	+	2	1377	c.1102A>G	c.(1102-1104)Atg>Gtg	p.M368V	CYP2U1_ENST00000508453.1_Missense_Mutation_p.M159V|RP11-286E11.1_ENST00000513071.1_RNA	NM_183075.2	NP_898898.1	Q7Z449	CP2U1_HUMAN	cytochrome P450, family 2, subfamily U, polypeptide 1	368					arachidonic acid metabolic process (GO:0019369)|cell death (GO:0008219)|omega-hydroxylase P450 pathway (GO:0097267)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			breast(1)|large_intestine(2)|lung(4)|skin(2)|urinary_tract(1)	10		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000128)		CCTGCTGTATATGTCGCTGAA	0.403																																						ENST00000332884.6																			0				breast(1)|large_intestine(2)|lung(4)|skin(2)|urinary_tract(1)	10						c.(1102-1104)Atg>Gtg		cytochrome P450, family 2, subfamily U, polypeptide 1							143	140	141					4																	108866737		2203	4300	6503	SO:0001583	missense	113612				xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding	g.chr4:108866737A>G	BC012027	CCDS34047.1	4q25	2012-11-23			ENSG00000155016	ENSG00000155016		"Cytochrome P450s"	20582	protein-coding gene	gene with protein product	"spastic paraplegia 49"	610670				14975754, 14660610	Standard	XM_005262717		Approved	SPG49	uc003hyp.3	Q7Z449	OTTHUMG00000161084	ENST00000332884.6:c.1102A>G	4.37:g.108866737A>G	ENSP00000333212:p.Met368Val					RP11-286E11.1_ENST00000513071.1_RNA|CYP2U1_ENST00000508453.1_Missense_Mutation_p.M159V	p.M368V	NM_183075.2	NP_898898.1	Q7Z449	CP2U1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000128)	2	1377	+		Hepatocellular(203;0.217)	368					B2RMV7|Q96EQ6	Missense_Mutation	SNP	ENST00000332884.6	37	c.1102A>G	CCDS34047.1	.	.	.	.	.	.	.	.	.	.	A	12.19	1.862178	0.32884	.	.	ENSG00000155016	ENST00000332884;ENST00000424249;ENST00000508453	T;T	0.79749	-1.3;-1.3	5.83	4.62	0.57501	.	0.035139	0.85682	D	0.000000	D	0.83963	0.5368	M	0.73430	2.235	0.53688	D	0.999971	P	0.42961	0.795	P	0.50754	0.649	D	0.84033	0.0360	10	0.87932	D	0	.	8.5637	0.33527	0.7363:0.1348:0.0:0.1289	.	368	Q7Z449	CP2U1_HUMAN	V	368;325;159	ENSP00000333212:M368V;ENSP00000423667:M159V	ENSP00000333212:M368V	M	+	1	0	CYP2U1	109086186	1.000000	0.71417	0.991000	0.47740	0.025000	0.11179	4.004000	0.57068	1.000000	0.39049	0.459000	0.35465	ATG		0.403	CYP2U1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363691.2	NM_183075		24	105	0	0	0	1	0	24	105					G	108866737	A	G	108866737	3	3	435	1	0	0	0	0	1	0	0	0	4175	449	16	4	1108	4	CYP2U1	4	108866737	Missense_Mutation	SNP	A	TCGA-XK-AAIW-01A-11D-A41K-08	1709102	108866737	82287539	2401	23326											
HADH	3033	broad.mit.edu	37	chr4	108954379	108954379	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgctatgaaattaggagccGgttaccccatgggcccattt	9	11	10	11	1	0	1	0	1	0	0	0	2	0	2	4	3	3	2	4	3	4	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:108954379G>A	ENST00000309522.3	+	7	906	c.757G>A	c.(757-759)Ggt>Agt	p.G253S	HADH_ENST00000403312.1_Missense_Mutation_p.G329S|HADH_ENST00000603302.1_Missense_Mutation_p.G270S|HADH_ENST00000510728.1_3'UTR|HADH_ENST00000505878.1_Missense_Mutation_p.G257S|HADH_ENST00000454409.2_Missense_Mutation_p.G257S	NM_005327.4	NP_005318	P40939	ECHA_HUMAN	hydroxyacyl-CoA dehydrogenase	579					cardiolipin acyl-chain remodeling (GO:0035965)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|glycerophospholipid biosynthetic process (GO:0046474)|phospholipid metabolic process (GO:0006644)|response to drug (GO:0042493)|response to insulin (GO:0032868)|small molecule metabolic process (GO:0044281)	mitochondrial fatty acid beta-oxidation multienzyme complex (GO:0016507)|mitochondrial inner membrane (GO:0005743)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	3-hydroxyacyl-CoA dehydrogenase activity (GO:0003857)|acetyl-CoA C-acetyltransferase activity (GO:0003985)|enoyl-CoA hydratase activity (GO:0004300)|fatty-acyl-CoA binding (GO:0000062)|long-chain-3-hydroxyacyl-CoA dehydrogenase activity (GO:0016509)|long-chain-enoyl-CoA hydratase activity (GO:0016508)|NAD binding (GO:0051287)			endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	15		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000168)		ATTAGGAGCCGGTTACCCCAT	0.453																																						ENST00000505878.1																			0				endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	15						c.(769-771)Ggt>Agt		hydroxyacyl-CoA dehydrogenase	NADH(DB00157)						149	141	144					4																	108954379		2203	4300	6503	SO:0001583	missense	3033				fatty acid beta-oxidation	mitochondrial matrix	3-hydroxyacyl-CoA dehydrogenase activity|NAD+ binding	g.chr4:108954379G>A	X96752	CCDS3678.1, CCDS54790.1	4q22-q26	2012-10-02	2010-04-30		ENSG00000138796	ENSG00000138796	1.1.1.35		4799	protein-coding gene	gene with protein product		601609	"L-3-hydroxyacyl-Coenzyme A dehydrogenase, short chain", "hydroxyacyl-Coenzyme A dehydrogenase"	HADHSC		975867, 16176262	Standard	NM_001184705		Approved	HADH1, SCHAD	uc010ilx.3	Q16836	OTTHUMG00000131810	ENST00000309522.3:c.757G>A	4.37:g.108954379G>A	ENSP00000312288:p.Gly253Ser					HADH_ENST00000510728.1_3'UTR|HADH_ENST00000603302.1_Missense_Mutation_p.G270S|HADH_ENST00000403312.1_Missense_Mutation_p.G329S|HADH_ENST00000309522.3_Missense_Mutation_p.G253S|HADH_ENST00000454409.2_Missense_Mutation_p.G257S	p.G257S			Q16836	HCDH_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000168)	8	1042	+		Hepatocellular(203;0.217)	253					B2R7L4|B4DYP2|Q16679|Q53T69|Q53TA2|Q96GT7|Q9UQC5	Missense_Mutation	SNP	ENST00000309522.3	37	c.769G>A	CCDS3678.1	.	.	.	.	.	.	.	.	.	.	G	35	5.473643	0.96291	.	.	ENSG00000138796	ENST00000403312;ENST00000309522;ENST00000505878;ENST00000454409	D;D;D	0.98150	-4.75;-4.75;-4.75	5.86	5.86	0.93980	3-hydroxyacyl-CoA dehydrogenase, C-terminal (1);Dehydrogenase, multihelical (1);6-phosphogluconate dehydrogenase, C-terminal-like (1);	0.000000	0.85682	D	0.000000	D	0.99102	0.9691	M	0.94142	3.5	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.72075	0.975;0.976;0.976	D	0.99116	1.0848	10	0.44086	T	0.13	-30.2368	18.9646	0.92691	0.0:0.0:1.0:0.0	.	329;257;253	Q16836-2;E9PF18;Q16836	.;.;HCDH_HUMAN	S	270;253;257;257	ENSP00000312288:G253S;ENSP00000425952:G257S;ENSP00000395167:G257S	ENSP00000312288:G253S	G	+	1	0	HADH	109173828	1.000000	0.71417	0.480000	0.27341	0.869000	0.49853	9.548000	0.98103	2.771000	0.95319	0.563000	0.77884	GGT		0.453	HADH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254750.2	NM_005327		37	41	0	0	0	1	0	37	41					A	108954379	G	A	108954379	3	1	435	1	0	0	0	0	1	0	0	0	6942	1116	39	2	838	2	HADH	4	108954379	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	87642	108954379	82199897	2402	23327											
RPL34	6164	broad.mit.edu	37	chr4	109543161	109543161	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtaggctttcctacaatacaGcctctaacaaaactaggctg	13	10	7	11	0	1	0	0	0	1	0	2	0	2	0	2	2	5	3	2	2	8	6			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:109543161G>A	ENST00000394668.2	+	2	112	c.46G>A	c.(46-48)Gcc>Acc	p.A16T	RPL34_ENST00000394667.3_Missense_Mutation_p.A16T|RPL34_ENST00000502534.1_Missense_Mutation_p.A16T|RPL34_ENST00000394665.1_Missense_Mutation_p.A16T|RPL34_ENST00000506397.1_Missense_Mutation_p.A16T|RPL34-AS1_ENST00000507248.1_lincRNA	NM_033625.2	NP_296374.1	P49207	RL34_HUMAN	ribosomal protein L34	16					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)	RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			kidney(2)|lung(1)|upper_aerodigestive_tract(1)	4		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000286)		CTACAATACAGCCTCTAACAA	0.348																																						ENST00000394668.2																			0				kidney(2)|lung(1)|upper_aerodigestive_tract(1)	4						c.(46-48)Gcc>Acc		ribosomal protein L34							53	55	54					4																	109543161		2203	4300	6503	SO:0001583	missense	6164				endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	protein binding|RNA binding|structural constituent of ribosome	g.chr4:109543161G>A	AB007181	CCDS3680.1	4q25	2011-04-06			ENSG00000109475	ENSG00000109475		"L ribosomal proteins"	10340	protein-coding gene	gene with protein product						9582194, 7490091	Standard	XM_005263172		Approved	L34	uc003hyz.3	P49207	OTTHUMG00000131839	ENST00000394668.2:c.46G>A	4.37:g.109543161G>A	ENSP00000378163:p.Ala16Thr					RPL34_ENST00000502534.1_Missense_Mutation_p.A16T|RPL34_ENST00000394665.1_Missense_Mutation_p.A16T|RPL34_ENST00000506397.1_Missense_Mutation_p.A16T|RPL34_ENST00000394667.3_Missense_Mutation_p.A16T	p.A16T	NM_033625.2	NP_296374.1	P49207	RL34_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000286)	2	112	+		Hepatocellular(203;0.217)	16					Q6FG66|Q9BUZ2	Missense_Mutation	SNP	ENST00000394668.2	37	c.46G>A	CCDS3680.1	.	.	.	.	.	.	.	.	.	.	G	20.5	4.007664	0.75046	.	.	ENSG00000109475	ENST00000394667;ENST00000502534;ENST00000394665;ENST00000506397;ENST00000394668	.	.	.	4.96	4.96	0.65561	Ribosomal protein L34e, conserved site (1);	0.052455	0.85682	D	0.000000	T	0.52354	0.1729	L	0.28504	0.86	0.80722	D	1	P	0.36162	0.54	B	0.42138	0.377	T	0.46512	-0.9186	9	0.22706	T	0.39	.	18.1803	0.89776	0.0:0.0:1.0:0.0	.	16	P49207	RL34_HUMAN	T	16	.	ENSP00000378160:A16T	A	+	1	0	RPL34	109762610	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.355000	0.73041	2.438000	0.82558	0.655000	0.94253	GCC		0.348	RPL34-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363468.1	NM_033625, NM_000995		20	87	0	0	0	1	0	20	87					A	109543161	G	A	109543161	3	1	435	1	0	0	0	0	1	0	0	0	13583	971	34	3	48	3	RPL34	4	109543161	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	588782	109543161	81611115	2403	23328											
COL25A1	84570	broad.mit.edu	37	chr4	110223177	110223177	+	De_novo_Start_InFrame	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtgcttcttcagcagcatcGtggcggggtcggccgtctcg	3	10	15	13	6	3	0	1	0	2	0	6	0	3	0	1	4	3	3	1	4	0	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:110223177G>A	ENST00000399132.1	-	0	529				COL25A1_ENST00000399127.1_De_novo_Start_InFrame|COL25A1_ENST00000399126.1_De_novo_Start_InFrame|AC004051.2_ENST00000500526.1_lincRNA	NM_198721.2	NP_942014.1			collagen, type XXV, alpha 1											NS(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	49		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000173)		CAGCAGCATCGTGGCGGGGTC	0.602																																						ENST00000399132.1																			0				NS(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	49								collagen, type XXV, alpha 1							22	24	23					4																	110223177		1937	4123	6060			84570					collagen|extracellular space	beta-amyloid binding|heparin binding	g.chr4:110223177G>A	AF293340	CCDS43258.1, CCDS43259.1, CCDS58922.1	4q25	2013-01-16			ENSG00000188517	ENSG00000188517		"Collagens"	18603	protein-coding gene	gene with protein product		610004				11927537	Standard	NM_001256074		Approved		uc003hze.2	Q9BXS0	OTTHUMG00000150039		4.37:g.110223177G>A						COL25A1_ENST00000399127.1_De_novo_Start_InFrame|COL25A1_ENST00000399126.1_De_novo_Start_InFrame		NM_198721.2	NP_942014.1	Q9BXS0	COPA1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000173)	0	529	-		Hepatocellular(203;0.217)							Translation_Start_Site	SNP	ENST00000399132.1	37		CCDS43258.1																																																																																				0.602	COL25A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315938.2	NM_032518		16	17	0	0	0	1	0	16	17					A	110223177	G	A	110223177	1	1	435	1	0	1	0	0	0	0	0	0	3684	1160	40	1		1	COL25A1	4	110223177	De_novo_Start_InFrame	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	680016	110223177	80931099	2404	23329											
SEC24B	10427	broad.mit.edu	37	chr4	110394176	110394176	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcagttgcagattctttatcCtgtcctgttatgcaaaatgt	9	17	7	8	0	2	1	1	0	1	1	4	1	4	1	2	0	2	4	2	0	4	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:110394176C>A	ENST00000265175.5	+	3	949	c.894C>A	c.(892-894)tcC>tcA	p.S298S	SEC24B_ENST00000399100.2_Silent_p.S298S|SEC24B_ENST00000504968.2_Silent_p.S329S	NM_006323.2	NP_006314.2	O95487	SC24B_HUMAN	SEC24 family member B	298					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|aorta morphogenesis (GO:0035909)|auditory receptor cell stereocilium organization (GO:0060088)|cellular protein metabolic process (GO:0044267)|cochlear nucleus development (GO:0021747)|COPII vesicle coating (GO:0048208)|coronary artery morphogenesis (GO:0060982)|ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)|lung lobe morphogenesis (GO:0060463)|membrane organization (GO:0061024)|neural tube closure (GO:0001843)|outflow tract morphogenesis (GO:0003151)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|pulmonary artery morphogenesis (GO:0061156)|regulation of cargo loading into COPII-coated vesicle (GO:1901301)|regulation of establishment of planar polarity involved in neural tube closure (GO:0090178)|small molecule metabolic process (GO:0044281)|vesicle-mediated transport (GO:0016192)	COPII vesicle coat (GO:0030127)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|membrane (GO:0016020)	transporter activity (GO:0005215)|zinc ion binding (GO:0008270)			breast(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;3.03e-05)		ATTCTTTATCCTGTCCTGTTA	0.363																																						ENST00000265175.5																			0				breast(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(892-894)tcC>tcA		SEC24 family member B							120	107	111					4																	110394176		1839	4098	5937	SO:0001819	synonymous_variant	10427				COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	protein binding|transporter activity|zinc ion binding	g.chr4:110394176C>A	AJ131245	CCDS43260.1, CCDS47124.1, CCDS75179.1	4q25	2013-10-21	2013-10-21		ENSG00000138802	ENSG00000138802			10704	protein-coding gene	gene with protein product		607184	"SEC24 (S. cerevisiae) related gene family, member B", "SEC24 family, member B (S. cerevisiae)"			10075675, 10329445	Standard	XM_005262688		Approved		uc003hzk.3	O95487	OTTHUMG00000161372	ENST00000265175.5:c.894C>A	4.37:g.110394176C>A						SEC24B_ENST00000399100.2_Silent_p.S298S|SEC24B_ENST00000504968.2_Silent_p.S329S	p.S298S	NM_006323.2	NP_006314.2	O95487	SC24B_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;3.03e-05)	3	949	+		Hepatocellular(203;0.217)	298					B7ZKM8|B7ZKN4|Q0VG08	Silent	SNP	ENST00000265175.5	37	c.894C>A	CCDS47124.1																																																																																				0.363	SEC24B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000364693.2			22	31	1	0	7.92952e-12	1	8.55149e-12	22	31					A	110394176	C	A	110394176	2	1	435	1	0	0	0	0	0	0	0	1	13995	668	24	5		5	SEC24B	4	110394176	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	170999	110394176	80760100	2405	23330											
SEC24B	10427	broad.mit.edu	37	chr4	110448484	110448484	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gactttttttttaggtgagcGgagaattagagtacatacac	12	14	10	5	1	0	3	0	1	0	2	0	5	0	3	0	2	3	1	0	2	5	8			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:110448484G>A	ENST00000265175.5	+	18	3027	c.2972G>A	c.(2971-2973)cGg>cAg	p.R991Q	SEC24B_ENST00000399100.2_Missense_Mutation_p.R956Q|SEC24B_ENST00000504968.2_Missense_Mutation_p.R1021Q	NM_006323.2	NP_006314.2	O95487	SC24B_HUMAN	SEC24 family member B	991					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|aorta morphogenesis (GO:0035909)|auditory receptor cell stereocilium organization (GO:0060088)|cellular protein metabolic process (GO:0044267)|cochlear nucleus development (GO:0021747)|COPII vesicle coating (GO:0048208)|coronary artery morphogenesis (GO:0060982)|ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)|lung lobe morphogenesis (GO:0060463)|membrane organization (GO:0061024)|neural tube closure (GO:0001843)|outflow tract morphogenesis (GO:0003151)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|pulmonary artery morphogenesis (GO:0061156)|regulation of cargo loading into COPII-coated vesicle (GO:1901301)|regulation of establishment of planar polarity involved in neural tube closure (GO:0090178)|small molecule metabolic process (GO:0044281)|vesicle-mediated transport (GO:0016192)	COPII vesicle coat (GO:0030127)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|membrane (GO:0016020)	transporter activity (GO:0005215)|zinc ion binding (GO:0008270)			breast(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;3.03e-05)		TTAGGTGAGCGGAGAATTAGA	0.353																																						ENST00000265175.5																			0				breast(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(2971-2973)cGg>cAg		SEC24 family member B							122	110	114					4																	110448484		1844	4093	5937	SO:0001583	missense	10427				COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	protein binding|transporter activity|zinc ion binding	g.chr4:110448484G>A	AJ131245	CCDS43260.1, CCDS47124.1, CCDS75179.1	4q25	2013-10-21	2013-10-21		ENSG00000138802	ENSG00000138802			10704	protein-coding gene	gene with protein product		607184	"SEC24 (S. cerevisiae) related gene family, member B", "SEC24 family, member B (S. cerevisiae)"			10075675, 10329445	Standard	XM_005262688		Approved		uc003hzk.3	O95487	OTTHUMG00000161372	ENST00000265175.5:c.2972G>A	4.37:g.110448484G>A	ENSP00000265175:p.Arg991Gln					SEC24B_ENST00000399100.2_Missense_Mutation_p.R956Q|SEC24B_ENST00000504968.2_Missense_Mutation_p.R1021Q	p.R991Q	NM_006323.2	NP_006314.2	O95487	SC24B_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;3.03e-05)	18	3027	+		Hepatocellular(203;0.217)	991					B7ZKM8|B7ZKN4|Q0VG08	Missense_Mutation	SNP	ENST00000265175.5	37	c.2972G>A	CCDS47124.1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.459653	0.84317	.	.	ENSG00000138802	ENST00000504968;ENST00000399100;ENST00000265175	T;T;T	0.48201	0.82;0.82;0.82	5.54	5.54	0.83059	Sec23/Sec24 beta-sandwich (1);	0.055333	0.64402	D	0.000001	T	0.81856	0.4911	H	0.98111	4.15	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;0.997;1.0;1.0;0.998	D	0.88194	0.2879	10	0.87932	D	0	-22.3513	19.8696	0.96845	0.0:0.0:1.0:0.0	.	905;590;1021;956;991	B4DTM6;B4E2E1;B7ZKM8;O95487-2;O95487	.;.;.;.;SC24B_HUMAN	Q	1021;956;991	ENSP00000428564:R1021Q;ENSP00000382051:R956Q;ENSP00000265175:R991Q	ENSP00000265175:R991Q	R	+	2	0	SEC24B	110667933	1.000000	0.71417	1.000000	0.80357	0.253000	0.25986	9.869000	0.99810	2.776000	0.95493	0.655000	0.94253	CGG		0.353	SEC24B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000364693.2			45	67	0	0	0	1	0	45	67					A	110448484	G	A	110448484	3	1	435	1	0	0	0	0	1	0	0	0	13995	1116	39	2	3042	2	SEC24B	4	110448484	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	54308	110448484	80705792	2406	23331											
RRH	10692	broad.mit.edu	37	chr4	110758737	110758737	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gagtccctcaacagagactgGtcagatcagatagatgtaac	14	8	10	9	0	3	4	3	0	0	4	4	6	4	4	1	1	2	1	1	1	3	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:110758737G>A	ENST00000317735.4	+	5	730	c.696G>A	c.(694-696)tgG>tgA	p.W232*		NM_006583.2	NP_006574.1	O14718	OPSX_HUMAN	retinal pigment epithelium-derived rhodopsin homolog	232					G-protein coupled receptor signaling pathway (GO:0007186)|phototransduction (GO:0007602)|protein-chromophore linkage (GO:0018298)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)|photoreceptor activity (GO:0009881)			endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)	12		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00109)		ACAGAGACTGGTCAGATCAGA	0.423																																						ENST00000317735.4																			0				endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)	12						c.(694-696)tgG>tgA		retinal pigment epithelium-derived rhodopsin homolog							86	73	77					4																	110758737		2203	4300	6503	SO:0001587	stop_gained	10692				phototransduction|protein-chromophore linkage|visual perception	integral to plasma membrane	G-protein coupled receptor activity|photoreceptor activity	g.chr4:110758737G>A	AF012270	CCDS3687.1	4q25	2012-08-08			ENSG00000180245	ENSG00000180245		"GPCR / Class A : Opsin receptors"	10450	protein-coding gene	gene with protein product	"peropsin"	605224				9275222	Standard	NM_006583		Approved	peropsin	uc003hzv.3	O14718	OTTHUMG00000132045	ENST00000317735.4:c.696G>A	4.37:g.110758737G>A	ENSP00000314992:p.Trp232*						p.W232*	NM_006583.2	NP_006574.1	O14718	OPSX_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.00109)	5	730	+		Hepatocellular(203;0.217)	232					A1A4V2|Q7RTS4	Nonsense_Mutation	SNP	ENST00000317735.4	37	c.696G>A	CCDS3687.1	.	.	.	.	.	.	.	.	.	.	G	37	6.175478	0.97348	.	.	ENSG00000180245	ENST00000317735	.	.	.	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.14252	T	0.57	.	20.33	0.98713	0.0:0.0:1.0:0.0	.	.	.	.	X	232	.	ENSP00000314992:W232X	W	+	3	0	RRH	110978186	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.353000	0.97080	2.810000	0.96702	0.585000	0.79938	TGG		0.423	RRH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255066.1	NM_006583		7	20	0	0	0	1	0	7	20					A	110758737	G	A	110758737	4	1	435	1	0	0	0	0	0	1	0	0	13680	1270	44	3	714	3	RRH	4	110758737	Nonsense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	310253	110758737	80395539	2407	23332											
LRIT3	345193	broad.mit.edu	37	chr4	110789072	110789072	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccccacagatcacatggaccAgatctgacagctcgccagtt	11	7	8	15	1	2	3	1	1	1	2	3	4	2	4	4	1	1	2	4	1	0	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:110789072A>G	ENST00000594814.1	+	3	865	c.865A>G	c.(865-867)Aga>Gga	p.R289G	LRIT3_ENST00000409621.2_Missense_Mutation_p.R106G|LRIT3_ENST00000327908.3_Missense_Mutation_p.R106G|LRIT3_ENST00000379920.3_Missense_Mutation_p.R244G	NM_198506.3	NP_940908.3	Q3SXY7	LRIT3_HUMAN	leucine-rich repeat, immunoglobulin-like and transmembrane domains 3	289	Ig-like.				regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				cervix(1)|kidney(1)|large_intestine(3)|lung(8)|prostate(2)|skin(1)	16				OV - Ovarian serous cystadenocarcinoma(123;0.0011)		CACATGGACCAGATCTGACAG	0.453																																						ENST00000327908.3																			0				cervix(1)|kidney(1)|large_intestine(3)|lung(8)|prostate(2)|skin(1)	16						c.(316-318)Aga>Gga		leucine-rich repeat, immunoglobulin-like and transmembrane domains 3							86	82	83					4																	110789072		2203	4300	6503	SO:0001583	missense	345193					integral to membrane		g.chr4:110789072A>G	AK126648	CCDS3688.2, CCDS3688.3	4q25	2014-01-28	2007-06-19		ENSG00000183423	ENSG00000183423		"Immunoglobulin superfamily / I-set domain containing"	24783	protein-coding gene	gene with protein product	"fibronectin type III, immunoglobulin and leucine rich repeat domains 4"	615004					Standard	NM_198506		Approved	FLJ44691, FIGLER4, CSNB1F	uc031sgv.1	Q3SXY7	OTTHUMG00000132043	ENST00000594814.1:c.865A>G	4.37:g.110789072A>G	ENSP00000469759:p.Arg289Gly					LRIT3_ENST00000379920.3_Missense_Mutation_p.R244G|LRIT3_ENST00000409621.2_Missense_Mutation_p.R106G|LRIT3_ENST00000594814.1_Missense_Mutation_p.R289G	p.R106G			Q3SXY7	LRIT3_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.0011)	3	1080	+			244					C9J1C2|Q6ZTG1	Missense_Mutation	SNP	ENST00000594814.1	37	c.316A>G	CCDS3688.3	.	.	.	.	.	.	.	.	.	.	A	19.92	3.915509	0.73098	.	.	ENSG00000183423	ENST00000327908;ENST00000379920;ENST00000409621	T;T;T	0.35048	1.33;1.33;1.33	5.71	-2.26	0.06867	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.188962	0.53938	D	0.000050	T	0.60130	0.2245	M	0.90198	3.095	0.32877	D	0.509988	D;D	0.63880	0.992;0.993	P;P	0.61940	0.872;0.896	T	0.74839	-0.3528	10	0.54805	T	0.06	.	15.9826	0.80125	0.4305:0.5695:0.0:0.0	.	244;106	Q3SXY7;Q3SXY7-2	LRIT3_HUMAN;.	G	106;244;106	ENSP00000328222:R106G;ENSP00000369252:R244G;ENSP00000386734:R106G	ENSP00000328222:R106G	R	+	1	2	LRIT3	111008521	1.000000	0.71417	0.581000	0.28614	0.883000	0.51084	4.010000	0.57117	-0.199000	0.10317	0.533000	0.62120	AGA		0.453	LRIT3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335270.2	NM_198506		25	40	0	0	0	1	0	25	40					G	110789072	A	G	110789072	3	3	435	1	0	0	0	0	1	0	0	0	8949	180	7	4	736	4	LRIT3	4	110789072	Missense_Mutation	SNP	A	TCGA-XK-AAIW-01A-11D-A41K-08	30335	110789072	80365204	2408	23333											
EGF	1950	broad.mit.edu	37	chr4	110897213	110897213	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	attaatccacgaattgaaagTtcttccctccaaggccttgg	11	12	7	11	1	1	1	0	1	1	0	4	2	4	1	4	2	0	1	4	2	4	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:110897213T>A	ENST00000265171.5	+	13	2320	c.1875T>A	c.(1873-1875)agT>agA	p.S625R	EGF_ENST00000509793.1_Missense_Mutation_p.S583R|EGF_ENST00000503392.1_Missense_Mutation_p.S625R	NM_001178130.1|NM_001963.4	NP_001171601.1|NP_001954.2	P01133	EGF_HUMAN	epidermal growth factor	625					activation of MAPKK activity (GO:0000186)|activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|branching morphogenesis of an epithelial tube (GO:0048754)|DNA replication (GO:0006260)|epidermal growth factor receptor signaling pathway (GO:0007173)|ERK1 and ERK2 cascade (GO:0070371)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|mammary gland alveolus development (GO:0060749)|negative regulation of cholesterol efflux (GO:0090370)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of secretion (GO:0051048)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cerebellar granule cell precursor proliferation (GO:0021940)|positive regulation of DNA binding (GO:0043388)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of hyaluronan biosynthetic process (GO:1900127)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of mitosis (GO:0045840)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of calcium ion import (GO:0090279)|regulation of protein localization to cell surface (GO:2000008)|signal transduction (GO:0007165)|STAT protein import into nucleus (GO:0007262)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	calcium ion binding (GO:0005509)|epidermal growth factor receptor binding (GO:0005154)|growth factor activity (GO:0008083)|transmembrane receptor protein tyrosine kinase activator activity (GO:0030297)			breast(1)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Hepatocellular(203;0.0893)		OV - Ovarian serous cystadenocarcinoma(123;9.87e-06)	Sucralfate(DB00364)	GAATTGAAAGTTCTTCCCTCC	0.393																																						ENST00000265171.5																			0				breast(1)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						c.(1873-1875)agT>agA		epidermal growth factor	Sulindac(DB00605)						187	200	195					4																	110897213		2203	4300	6503	SO:0001583	missense	1950				angiogenesis|DNA replication|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of secretion|platelet activation|platelet degranulation|positive regulation of catenin import into nucleus|positive regulation of epidermal growth factor receptor activity|positive regulation of MAP kinase activity|positive regulation of mitosis|regulation of calcium ion import|regulation of protein localization at cell surface	integral to membrane|plasma membrane|platelet alpha granule lumen	calcium ion binding|epidermal growth factor receptor binding|growth factor activity|transmembrane receptor protein tyrosine kinase activator activity	g.chr4:110897213T>A	X04571	CCDS3689.1, CCDS54794.1, CCDS54795.1	4q25	2012-10-02	2010-05-11		ENSG00000138798	ENSG00000138798			3229	protein-coding gene	gene with protein product		131530	"epidermal growth factor (beta-urogastrone)"				Standard	NM_001963		Approved		uc003hzy.4	P01133	OTTHUMG00000132044	ENST00000265171.5:c.1875T>A	4.37:g.110897213T>A	ENSP00000265171:p.Ser625Arg					EGF_ENST00000503392.1_Missense_Mutation_p.S625R|EGF_ENST00000509793.1_Missense_Mutation_p.S583R	p.S625R	NM_001178130.1|NM_001963.4	NP_001171601.1|NP_001954.2	P01133	EGF_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;9.87e-06)	13	2320	+		Hepatocellular(203;0.0893)	625					B4DRK7|E7EVD2|E9PBF0|Q52LZ6	Missense_Mutation	SNP	ENST00000265171.5	37	c.1875T>A	CCDS3689.1	.	.	.	.	.	.	.	.	.	.	T	16.31	3.086432	0.55861	.	.	ENSG00000138798	ENST00000509793;ENST00000265171;ENST00000503392	D;D;D	0.96200	-3.94;-3.94;-3.94	5.66	-2.47	0.06442	Six-bladed beta-propeller, TolB-like (1);	0.118294	0.85682	D	0.000000	D	0.90106	0.6909	N	0.17278	0.47	0.43583	D	0.995926	P;B;P	0.50369	0.776;0.415;0.934	P;B;P	0.51701	0.461;0.142;0.677	D	0.85554	0.1223	10	0.02654	T	1	.	13.4059	0.60913	0.0:0.5164:0.0:0.4836	.	625;583;625	E7EVD2;P01133-2;P01133	.;.;EGF_HUMAN	R	583;625;625	ENSP00000424316:S583R;ENSP00000265171:S625R;ENSP00000421384:S625R	ENSP00000265171:S625R	S	+	3	2	EGF	111116662	1.000000	0.71417	0.993000	0.49108	0.998000	0.95712	0.588000	0.23924	-0.248000	0.09583	0.533000	0.62120	AGT		0.393	EGF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255065.1			64	55	0	0	0	1	0	64	55					A	110897213	T	A	110897213	3	1	435	1	0	0	0	0	1	0	0	0	4962	1722	60	5	1925	5	EGF	4	110897213	Missense_Mutation	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	108141	110897213	80257063	2409	23334											
EGF	1950	broad.mit.edu	37	chr4	110902097	110902097	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaagcctcagatgggaaaacGtgtctggctctggatggtca	11	9	13	8	1	4	1	2	0	2	1	4	3	4	3	1	4	2	1	1	4	3	0	rs368323208		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:110902097G>A	ENST00000265171.5	+	15	2782	c.2337G>A	c.(2335-2337)acG>acA	p.T779T	EGF_ENST00000509793.1_Silent_p.T737T|EGF_ENST00000503392.1_Silent_p.T779T	NM_001178130.1|NM_001963.4	NP_001171601.1|NP_001954.2	P01133	EGF_HUMAN	epidermal growth factor	779	EGF-like 5. {ECO:0000255|PROSITE- ProRule:PRU00076}.				activation of MAPKK activity (GO:0000186)|activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|branching morphogenesis of an epithelial tube (GO:0048754)|DNA replication (GO:0006260)|epidermal growth factor receptor signaling pathway (GO:0007173)|ERK1 and ERK2 cascade (GO:0070371)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|mammary gland alveolus development (GO:0060749)|negative regulation of cholesterol efflux (GO:0090370)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of secretion (GO:0051048)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cerebellar granule cell precursor proliferation (GO:0021940)|positive regulation of DNA binding (GO:0043388)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of hyaluronan biosynthetic process (GO:1900127)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of mitosis (GO:0045840)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of calcium ion import (GO:0090279)|regulation of protein localization to cell surface (GO:2000008)|signal transduction (GO:0007165)|STAT protein import into nucleus (GO:0007262)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	calcium ion binding (GO:0005509)|epidermal growth factor receptor binding (GO:0005154)|growth factor activity (GO:0008083)|transmembrane receptor protein tyrosine kinase activator activity (GO:0030297)			breast(1)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Hepatocellular(203;0.0893)		OV - Ovarian serous cystadenocarcinoma(123;9.87e-06)	Sucralfate(DB00364)	ATGGGAAAACGTGTCTGGCTC	0.413																																						ENST00000265171.5																			0				breast(1)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						c.(2335-2337)acG>acA		epidermal growth factor	Sulindac(DB00605)	G	,,	0,4406		0,0,2203	211	204	207		2337,2211,2337	1.1	0	4		207	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous,coding-synonymous,coding-synonymous	EGF	NM_001178130.1,NM_001178131.1,NM_001963.4	,,	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	,,	779/1167,737/1166,779/1208	110902097	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	1950				angiogenesis|DNA replication|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of secretion|platelet activation|platelet degranulation|positive regulation of catenin import into nucleus|positive regulation of epidermal growth factor receptor activity|positive regulation of MAP kinase activity|positive regulation of mitosis|regulation of calcium ion import|regulation of protein localization at cell surface	integral to membrane|plasma membrane|platelet alpha granule lumen	calcium ion binding|epidermal growth factor receptor binding|growth factor activity|transmembrane receptor protein tyrosine kinase activator activity	g.chr4:110902097G>A	X04571	CCDS3689.1, CCDS54794.1, CCDS54795.1	4q25	2012-10-02	2010-05-11		ENSG00000138798	ENSG00000138798			3229	protein-coding gene	gene with protein product		131530	"epidermal growth factor (beta-urogastrone)"				Standard	NM_001963		Approved		uc003hzy.4	P01133	OTTHUMG00000132044	ENST00000265171.5:c.2337G>A	4.37:g.110902097G>A						EGF_ENST00000503392.1_Silent_p.T779T|EGF_ENST00000509793.1_Silent_p.T737T	p.T779T	NM_001178130.1|NM_001963.4	NP_001171601.1|NP_001954.2	P01133	EGF_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;9.87e-06)	15	2782	+		Hepatocellular(203;0.0893)	779			EGF-like 5.		B4DRK7|E7EVD2|E9PBF0|Q52LZ6	Silent	SNP	ENST00000265171.5	37	c.2337G>A	CCDS3689.1																																																																																				0.413	EGF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255065.1			77	97	0	0	0	1	0	77	97					A	110902097	G	A	110902097	2	1	435	1	0	0	0	0	0	0	0	1	4962	1132	40	1		1	EGF	4	110902097	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	4884	110902097	80252179	2410	23335											
ELOVL6	79071	broad.mit.edu	37	chr4	110972738	110972738	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggagactcggaaacctgccGcccgcaaggcatagtaagag	12	4	14	11	3	0	2	0	0	0	2	1	4	0	3	3	3	2	3	3	3	4	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:110972738G>A	ENST00000394607.3	-	5	717	c.554C>T	c.(553-555)gCg>gTg	p.A185V	ELOVL6_ENST00000302274.3_Missense_Mutation_p.A185V			Q9H5J4	ELOV6_HUMAN	ELOVL fatty acid elongase 6	185					cellular lipid metabolic process (GO:0044255)|fatty acid elongation, saturated fatty acid (GO:0019367)|long-chain fatty acid biosynthetic process (GO:0042759)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)	transferase activity, transferring acyl groups other than amino-acyl groups (GO:0016747)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)	8				OV - Ovarian serous cystadenocarcinoma(123;0.00462)		GAAACCTGCCGCCCGCAAGGC	0.527																																						ENST00000394607.3																			0				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)	8						c.(553-555)gCg>gTg		ELOVL fatty acid elongase 6							68	60	63					4																	110972738		2203	4300	6503	SO:0001583	missense	79071				fatty acid elongation, saturated fatty acid|long-chain fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process		fatty acid elongase activity|protein binding	g.chr4:110972738G>A	AK027031	CCDS3690.1	4q25	2011-05-25	2011-05-25		ENSG00000170522	ENSG00000170522			15829	protein-coding gene	gene with protein product		611546	"ELOVL family member 6, elongation of long chain fatty acids (FEN1/Elo2, SUR4/Elo3-like, yeast)"			11567032	Standard	NM_024090		Approved	FLJ23378, MGC5487, LCE	uc003hzz.3	Q9H5J4	OTTHUMG00000132547	ENST00000394607.3:c.554C>T	4.37:g.110972738G>A	ENSP00000378105:p.Ala185Val					ELOVL6_ENST00000302274.3_Missense_Mutation_p.A185V	p.A185V			Q9H5J4	ELOV6_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.00462)	5	717	-			185					Q4W5L0|Q8NCD1	Missense_Mutation	SNP	ENST00000394607.3	37	c.554C>T	CCDS3690.1	.	.	.	.	.	.	.	.	.	.	G	27.3	4.815435	0.90790	.	.	ENSG00000170522	ENST00000394607;ENST00000302274	T;T	0.26223	1.75;1.75	5.97	5.12	0.69794	.	0.239813	0.49305	D	0.000155	T	0.54046	0.1834	M	0.84156	2.68	0.80722	D	1	D	0.71674	0.998	D	0.67231	0.95	T	0.61008	-0.7149	10	0.54805	T	0.06	-11.8924	16.6339	0.85041	0.0:0.0:0.869:0.131	.	185	Q9H5J4	ELOV6_HUMAN	V	185	ENSP00000378105:A185V;ENSP00000304736:A185V	ENSP00000304736:A185V	A	-	2	0	ELOVL6	111192187	1.000000	0.71417	0.736000	0.30914	0.829000	0.46940	9.775000	0.98995	1.512000	0.48834	0.655000	0.94253	GCG		0.527	ELOVL6-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255748.1	NM_024090		19	20	0	0	0	1	0	19	20					A	110972738	G	A	110972738	3	1	435	1	0	0	0	0	1	0	0	0	5078	1087	38	1	247	1	ELOVL6	4	110972738	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	70641	110972738	80181538	2411	23336											
ENPEP	2028	broad.mit.edu	37	chr4	111441445	111441445	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tatcctgtgcttaacgtgaaCggtgtcaagaacatcacaca	13	10	8	10	2	2	2	2	1	0	1	3	2	3	2	1	1	4	1	1	1	5	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:111441445C>T	ENST00000265162.5	+	10	1992	c.1650C>T	c.(1648-1650)aaC>aaT	p.N550N	RP11-380D23.1_ENST00000503998.1_RNA	NM_001977.3	NP_001968.3	Q07075	AMPE_HUMAN	glutamyl aminopeptidase (aminopeptidase A)	550					angiogenesis (GO:0001525)|angiotensin catabolic process in blood (GO:0002005)|angiotensin maturation (GO:0002003)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|cellular protein metabolic process (GO:0044267)|glomerulus development (GO:0032835)|regulation of systemic arterial blood pressure by renin-angiotensin (GO:0003081)	apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|brush border (GO:0005903)|cytoplasmic vesicle (GO:0031410)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	aminopeptidase activity (GO:0004177)|metalloaminopeptidase activity (GO:0070006)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(1)	54		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.0031)		TTAACGTGAACGGTGTCAAGA	0.443																																						ENST00000265162.5																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(1)	54						c.(1648-1650)aaC>aaT		glutamyl aminopeptidase (aminopeptidase A)	L-Glutamic Acid(DB00142)						137	125	129					4																	111441445		2203	4300	6503	SO:0001819	synonymous_variant	2028				cell migration|cell proliferation|cell-cell signaling|proteolysis	integral to plasma membrane	aminopeptidase activity|metalloexopeptidase activity|zinc ion binding	g.chr4:111441445C>T	L12468	CCDS3691.1	4q25	2008-02-05			ENSG00000138792	ENSG00000138792	3.4.11.7	"CD molecules"	3355	protein-coding gene	gene with protein product		138297				9268642	Standard	NM_001977		Approved	gp160, CD249	uc003iab.4	Q07075	OTTHUMG00000132546	ENST00000265162.5:c.1650C>T	4.37:g.111441445C>T							p.N550N	NM_001977.3	NP_001968.3	Q07075	AMPE_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.0031)	10	1992	+		Hepatocellular(203;0.217)	550					Q504U2	Silent	SNP	ENST00000265162.5	37	c.1650C>T	CCDS3691.1																																																																																				0.443	ENPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255747.2			33	43	0	0	0	1	0	33	43					T	111441445	C	T	111441445	2	4	435	1	0	0	0	0	0	0	0	1	5128	535	19	1		1	ENPEP	4	111441445	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	468707	111441445	79712831	2412	23337											
PITX2	5308	broad.mit.edu	37	chr4	111539338	111539338	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aggttggaggccgggttctgCacgctggcgtagccgaagct	6	8	17	10	4	1	0	0	0	1	0	1	2	1	1	2	5	3	6	2	5	2	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:111539338C>T	ENST00000354925.2	-	7	2602	c.897G>A	c.(895-897)gtG>gtA	p.V299V	PITX2_ENST00000394598.2_Silent_p.V299V|PITX2_ENST00000306732.3_Silent_p.V306V|PITX2_ENST00000556049.1_5'Flank|PITX2_ENST00000355080.5_Silent_p.V253V|PITX2_ENST00000394595.3_3'UTR|RP11-380D23.2_ENST00000503456.1_lincRNA	NM_001204397.1	NP_001191326.1	Q99697	PITX2_HUMAN	paired-like homeodomain 2	299					atrial cardiac muscle tissue morphogenesis (GO:0055009)|atrioventricular valve development (GO:0003171)|camera-type eye development (GO:0043010)|cardiac neural crest cell migration involved in outflow tract morphogenesis (GO:0003253)|cell proliferation involved in outflow tract morphogenesis (GO:0061325)|deltoid tuberosity development (GO:0035993)|determination of left/right symmetry (GO:0007368)|embryonic camera-type eye development (GO:0031076)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic hindlimb morphogenesis (GO:0035116)|endodermal digestive tract morphogenesis (GO:0061031)|extraocular skeletal muscle development (GO:0002074)|female gonad development (GO:0008585)|hair cell differentiation (GO:0035315)|hypothalamus cell migration (GO:0021855)|in utero embryonic development (GO:0001701)|iris morphogenesis (GO:0061072)|left lung morphogenesis (GO:0060460)|left/right axis specification (GO:0070986)|male gonad development (GO:0008584)|myoblast fusion (GO:0007520)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|odontogenesis (GO:0042476)|odontogenesis of dentin-containing tooth (GO:0042475)|patterning of blood vessels (GO:0001569)|positive regulation of DNA binding (GO:0043388)|positive regulation of myoblast proliferation (GO:2000288)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prolactin secreting cell differentiation (GO:0060127)|pulmonary myocardium development (GO:0003350)|pulmonary vein morphogenesis (GO:0060577)|regulation of cell migration (GO:0030334)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|response to hormone (GO:0009725)|response to vitamin A (GO:0033189)|somatotropin secreting cell differentiation (GO:0060126)|spleen development (GO:0048536)|subthalamic nucleus development (GO:0021763)|superior vena cava morphogenesis (GO:0060578)|vascular smooth muscle cell differentiation (GO:0035886)|vasculogenesis (GO:0001570)|ventricular cardiac muscle cell development (GO:0055015)|ventricular septum morphogenesis (GO:0060412)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin DNA binding (GO:0031490)|phosphoprotein binding (GO:0051219)|protein homodimerization activity (GO:0042803)|ribonucleoprotein complex binding (GO:0043021)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			breast(1)|endometrium(3)|large_intestine(1)|lung(5)	10		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00222)		CCGGGTTCTGCACGCTGGCGT	0.627																																						ENST00000354925.2																			0				breast(1)|endometrium(3)|large_intestine(1)|lung(5)	10						c.(895-897)gtG>gtA		paired-like homeodomain 2							52	48	50					4																	111539338		2203	4300	6503	SO:0001819	synonymous_variant	5308				determination of left/right symmetry|organ morphogenesis	transcription factor complex	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding	g.chr4:111539338C>T	U69961	CCDS3692.1, CCDS3693.1, CCDS3694.1	4q25	2011-06-20	2007-07-12		ENSG00000164093	ENSG00000164093		"Homeoboxes / PRD class"	9005	protein-coding gene	gene with protein product		601542	"paired-like homeodomain transcription factor 2"	IRID2, IHG2, RIEG, RIEG1, RGS		9539779, 7581385	Standard	NM_000325		Approved	IGDS, RS, Brx1, Otlx2, ARP1	uc021xqr.1	Q99697	OTTHUMG00000132837	ENST00000354925.2:c.897G>A	4.37:g.111539338C>T						PITX2_ENST00000394598.2_Silent_p.V299V|PITX2_ENST00000306732.3_Silent_p.V306V|PITX2_ENST00000355080.5_Silent_p.V253V|PITX2_ENST00000394595.3_3'UTR	p.V299V	NM_001204397.1	NP_001191326.1	Q99697	PITX2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.00222)	7	2602	-		Hepatocellular(203;0.217)	299					A8K6C6|B2RA02|B3KXS0|O60578|O60579|O60580|Q3KQX9|Q9BY17	Silent	SNP	ENST00000354925.2	37	c.897G>A	CCDS3692.1																																																																																				0.627	PITX2-003	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256308.2			14	21	0	0	0	1	0	14	21					T	111539338	C	T	111539338	2	4	435	1	0	0	0	0	0	0	0	1	11955	697	25	3		3	PITX2	4	111539338	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	97893	111539338	79614938	2413	23338											
PITX2	5308	broad.mit.edu	37	chr4	111542460	111542460	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agtccgctgccgcctttgccGcttcttcttagacgggtcct	3	13	10	15	4	2	1	0	0	2	1	4	1	4	1	5	1	2	2	5	1	1	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:111542460G>A	ENST00000354925.2	-	6	1955	c.250C>T	c.(250-252)Cgg>Tgg	p.R84W	PITX2_ENST00000394598.2_Missense_Mutation_p.R84W|PITX2_ENST00000306732.3_Missense_Mutation_p.R91W|PITX2_ENST00000556049.1_5'Flank|PITX2_ENST00000355080.5_Missense_Mutation_p.R38W|PITX2_ENST00000394595.3_Intron|PITX2_ENST00000557119.2_Missense_Mutation_p.R91W	NM_001204397.1	NP_001191326.1	Q99697	PITX2_HUMAN	paired-like homeodomain 2	84					atrial cardiac muscle tissue morphogenesis (GO:0055009)|atrioventricular valve development (GO:0003171)|camera-type eye development (GO:0043010)|cardiac neural crest cell migration involved in outflow tract morphogenesis (GO:0003253)|cell proliferation involved in outflow tract morphogenesis (GO:0061325)|deltoid tuberosity development (GO:0035993)|determination of left/right symmetry (GO:0007368)|embryonic camera-type eye development (GO:0031076)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic hindlimb morphogenesis (GO:0035116)|endodermal digestive tract morphogenesis (GO:0061031)|extraocular skeletal muscle development (GO:0002074)|female gonad development (GO:0008585)|hair cell differentiation (GO:0035315)|hypothalamus cell migration (GO:0021855)|in utero embryonic development (GO:0001701)|iris morphogenesis (GO:0061072)|left lung morphogenesis (GO:0060460)|left/right axis specification (GO:0070986)|male gonad development (GO:0008584)|myoblast fusion (GO:0007520)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|odontogenesis (GO:0042476)|odontogenesis of dentin-containing tooth (GO:0042475)|patterning of blood vessels (GO:0001569)|positive regulation of DNA binding (GO:0043388)|positive regulation of myoblast proliferation (GO:2000288)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prolactin secreting cell differentiation (GO:0060127)|pulmonary myocardium development (GO:0003350)|pulmonary vein morphogenesis (GO:0060577)|regulation of cell migration (GO:0030334)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|response to hormone (GO:0009725)|response to vitamin A (GO:0033189)|somatotropin secreting cell differentiation (GO:0060126)|spleen development (GO:0048536)|subthalamic nucleus development (GO:0021763)|superior vena cava morphogenesis (GO:0060578)|vascular smooth muscle cell differentiation (GO:0035886)|vasculogenesis (GO:0001570)|ventricular cardiac muscle cell development (GO:0055015)|ventricular septum morphogenesis (GO:0060412)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin DNA binding (GO:0031490)|phosphoprotein binding (GO:0051219)|protein homodimerization activity (GO:0042803)|ribonucleoprotein complex binding (GO:0043021)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			breast(1)|endometrium(3)|large_intestine(1)|lung(5)	10		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00222)		CGCCTTTGCCGCTTCTTCTTA	0.567																																						ENST00000354925.2																			0				breast(1)|endometrium(3)|large_intestine(1)|lung(5)	10						c.(250-252)Cgg>Tgg		paired-like homeodomain 2							73	73	73					4																	111542460		2203	4300	6503	SO:0001583	missense	5308				determination of left/right symmetry|organ morphogenesis	transcription factor complex	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding	g.chr4:111542460G>A	U69961	CCDS3692.1, CCDS3693.1, CCDS3694.1	4q25	2011-06-20	2007-07-12		ENSG00000164093	ENSG00000164093		"Homeoboxes / PRD class"	9005	protein-coding gene	gene with protein product		601542	"paired-like homeodomain transcription factor 2"	IRID2, IHG2, RIEG, RIEG1, RGS		9539779, 7581385	Standard	NM_000325		Approved	IGDS, RS, Brx1, Otlx2, ARP1	uc021xqr.1	Q99697	OTTHUMG00000132837	ENST00000354925.2:c.250C>T	4.37:g.111542460G>A	ENSP00000347004:p.Arg84Trp					PITX2_ENST00000394598.2_Missense_Mutation_p.R84W|PITX2_ENST00000306732.3_Missense_Mutation_p.R91W|PITX2_ENST00000557119.2_Missense_Mutation_p.R91W|PITX2_ENST00000355080.5_Missense_Mutation_p.R38W|PITX2_ENST00000394595.3_Intron	p.R84W	NM_001204397.1	NP_001191326.1	Q99697	PITX2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.00222)	6	1955	-		Hepatocellular(203;0.217)	84					A8K6C6|B2RA02|B3KXS0|O60578|O60579|O60580|Q3KQX9|Q9BY17	Missense_Mutation	SNP	ENST00000354925.2	37	c.250C>T	CCDS3692.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.122613	0.77436	.	.	ENSG00000164093	ENST00000306732;ENST00000394598;ENST00000355080;ENST00000354925;ENST00000511837;ENST00000511990	D;D;D;D;D;D	0.95885	-3.84;-3.84;-3.84;-3.84;-3.84;-3.84	5.37	1.51	0.23008	Homeodomain-related (1);Homeobox (1);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	D	0.97266	0.9106	M	0.84773	2.715	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.83275	0.968;0.988;0.945;0.996	D	0.96194	0.9140	10	0.87932	D	0	.	10.3143	0.43727	0.0643:0.0:0.3387:0.597	.	84;38;84;91	D6RFI4;Q99697-3;Q99697;Q99697-2	.;.;PITX2_HUMAN;.	W	91;84;38;84;84;38	ENSP00000304169:R91W;ENSP00000378097:R84W;ENSP00000347192:R38W;ENSP00000347004:R84W;ENSP00000421454:R84W;ENSP00000424142:R38W	ENSP00000304169:R91W	R	-	1	2	PITX2	111761909	1.000000	0.71417	0.997000	0.53966	0.995000	0.86356	0.764000	0.26532	0.028000	0.15324	0.655000	0.94253	CGG		0.567	PITX2-003	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256308.2			28	38	0	0	0	1	0	28	38					A	111542460	G	A	111542460	3	1	435	1	0	0	0	0	1	0	0	0	11955	1086	38	1	711	1	PITX2	4	111542460	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	3122	111542460	79611816	2414	23339											
PITX2	5308	broad.mit.edu	37	chr4	111553615	111553615	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtctttggagaagagacatTcaacggccgccggctgcacg	10	7	13	11	4	2	2	1	0	1	2	2	4	2	2	2	3	2	2	2	3	2	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:111553615T>C	ENST00000354925.2	-	5	1773	c.68A>G	c.(67-69)gAa>gGa	p.E23G	PITX2_ENST00000394598.2_Missense_Mutation_p.E23G|PITX2_ENST00000355080.5_Intron|PITX2_ENST00000394595.3_Missense_Mutation_p.E23G	NM_001204397.1	NP_001191326.1	Q99697	PITX2_HUMAN	paired-like homeodomain 2	23					atrial cardiac muscle tissue morphogenesis (GO:0055009)|atrioventricular valve development (GO:0003171)|camera-type eye development (GO:0043010)|cardiac neural crest cell migration involved in outflow tract morphogenesis (GO:0003253)|cell proliferation involved in outflow tract morphogenesis (GO:0061325)|deltoid tuberosity development (GO:0035993)|determination of left/right symmetry (GO:0007368)|embryonic camera-type eye development (GO:0031076)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic hindlimb morphogenesis (GO:0035116)|endodermal digestive tract morphogenesis (GO:0061031)|extraocular skeletal muscle development (GO:0002074)|female gonad development (GO:0008585)|hair cell differentiation (GO:0035315)|hypothalamus cell migration (GO:0021855)|in utero embryonic development (GO:0001701)|iris morphogenesis (GO:0061072)|left lung morphogenesis (GO:0060460)|left/right axis specification (GO:0070986)|male gonad development (GO:0008584)|myoblast fusion (GO:0007520)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|odontogenesis (GO:0042476)|odontogenesis of dentin-containing tooth (GO:0042475)|patterning of blood vessels (GO:0001569)|positive regulation of DNA binding (GO:0043388)|positive regulation of myoblast proliferation (GO:2000288)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prolactin secreting cell differentiation (GO:0060127)|pulmonary myocardium development (GO:0003350)|pulmonary vein morphogenesis (GO:0060577)|regulation of cell migration (GO:0030334)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|response to hormone (GO:0009725)|response to vitamin A (GO:0033189)|somatotropin secreting cell differentiation (GO:0060126)|spleen development (GO:0048536)|subthalamic nucleus development (GO:0021763)|superior vena cava morphogenesis (GO:0060578)|vascular smooth muscle cell differentiation (GO:0035886)|vasculogenesis (GO:0001570)|ventricular cardiac muscle cell development (GO:0055015)|ventricular septum morphogenesis (GO:0060412)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin DNA binding (GO:0031490)|phosphoprotein binding (GO:0051219)|protein homodimerization activity (GO:0042803)|ribonucleoprotein complex binding (GO:0043021)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			breast(1)|endometrium(3)|large_intestine(1)|lung(5)	10		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00222)		GAAGAGACATTCAACGGCCGC	0.662																																						ENST00000354925.2																			0				breast(1)|endometrium(3)|large_intestine(1)|lung(5)	10						c.(67-69)gAa>gGa		paired-like homeodomain 2							51	63	59					4																	111553615		2203	4300	6503	SO:0001583	missense	5308				determination of left/right symmetry|organ morphogenesis	transcription factor complex	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding	g.chr4:111553615T>C	U69961	CCDS3692.1, CCDS3693.1, CCDS3694.1	4q25	2011-06-20	2007-07-12		ENSG00000164093	ENSG00000164093		"Homeoboxes / PRD class"	9005	protein-coding gene	gene with protein product		601542	"paired-like homeodomain transcription factor 2"	IRID2, IHG2, RIEG, RIEG1, RGS		9539779, 7581385	Standard	NM_000325		Approved	IGDS, RS, Brx1, Otlx2, ARP1	uc021xqr.1	Q99697	OTTHUMG00000132837	ENST00000354925.2:c.68A>G	4.37:g.111553615T>C	ENSP00000347004:p.Glu23Gly					PITX2_ENST00000394598.2_Missense_Mutation_p.E23G|PITX2_ENST00000355080.5_Intron|PITX2_ENST00000394595.3_Missense_Mutation_p.E23G	p.E23G	NM_001204397.1	NP_001191326.1	Q99697	PITX2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.00222)	5	1773	-		Hepatocellular(203;0.217)	23					A8K6C6|B2RA02|B3KXS0|O60578|O60579|O60580|Q3KQX9|Q9BY17	Missense_Mutation	SNP	ENST00000354925.2	37	c.68A>G	CCDS3692.1	.	.	.	.	.	.	.	.	.	.	T	15.24	2.774815	0.49786	.	.	ENSG00000164093	ENST00000394598;ENST00000354925;ENST00000394595;ENST00000511837	D;D;D	0.93366	-2.99;-2.99;-3.21	4.83	2.23	0.28157	.	.	.	.	.	D	0.85729	0.5764	N	0.19112	0.55	0.20975	N	0.999819	B	0.21688	0.059	B	0.23716	0.048	T	0.72181	-0.4368	9	0.23891	T	0.37	.	7.4983	0.27503	0.0:0.0762:0.1424:0.7815	.	23	Q99697	PITX2_HUMAN	G	23	ENSP00000378097:E23G;ENSP00000347004:E23G;ENSP00000421454:E23G	ENSP00000347004:E23G	E	-	2	0	PITX2	111773064	1.000000	0.71417	0.991000	0.47740	0.995000	0.86356	2.105000	0.41825	0.289000	0.22422	0.528000	0.53228	GAA		0.662	PITX2-003	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256308.2			14	27	0	0	0	1	0	14	27					C	111553615	T	C	111553615	3	2	435	1	0	0	0	0	1	0	0	0	11955	1783	62	4	1106	4	PITX2	4	111553615	Missense_Mutation	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	11155	111553615	79600661	2415	23340											
AP1AR	55435	broad.mit.edu	37	chr4	113184195	113184195	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aagaagaagctttatacgctGcacagcgtgaagcagccagg	14	6	12	9	2	0	3	0	1	0	2	0	3	0	3	1	1	6	4	1	1	6	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:113184195G>A	ENST00000274000.5	+	6	689	c.334G>A	c.(334-336)Gca>Aca	p.A112T	AP1AR_ENST00000309703.6_Intron	NM_018569.4	NP_061039.3	Q63HQ0	AP1AR_HUMAN	adaptor-related protein complex 1 associated regulatory protein	112	Interaction with AP1G1.				cellular protein localization (GO:0034613)|negative regulation of cell motility (GO:2000146)|negative regulation of receptor recycling (GO:0001920)|negative regulation of substrate adhesion-dependent cell spreading (GO:1900025)|protein transport (GO:0015031)|regulation of Arp2/3 complex-mediated actin nucleation (GO:0034315)|vesicle targeting, trans-Golgi to endosome (GO:0048203)	cytoplasm (GO:0005737)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|transport vesicle (GO:0030133)	AP-1 adaptor complex binding (GO:0035650)|kinesin binding (GO:0019894)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)	9						TTTATACGCTGCACAGCGTGA	0.423																																						ENST00000274000.5																			0				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)	9						c.(334-336)Gca>Aca		adaptor-related protein complex 1 associated regulatory protein							65	72	70					4																	113184195		2203	4300	6503	SO:0001583	missense	55435				protein transport	early endosome|Golgi apparatus|late endosome|transport vesicle		g.chr4:113184195G>A	AL136628	CCDS3696.1, CCDS47125.1	4q25	2009-09-28	2009-09-25	2009-09-25	ENSG00000138660	ENSG00000138660			28808	protein-coding gene	gene with protein product	"gamma1-adaptin brefeldin A resistance"	610851	"chromosome 4 open reading frame 16"	C4orf16		15775984	Standard	NM_018569		Approved	PRO0971, 2C18, gamma-BAR	uc003iaj.4	Q63HQ0	OTTHUMG00000132849	ENST00000274000.5:c.334G>A	4.37:g.113184195G>A	ENSP00000274000:p.Ala112Thr					AP1AR_ENST00000309703.6_Intron	p.A112T	NM_018569.4	NP_061039.3	Q63HQ0	AP1AR_HUMAN			6	689	+			112			Interaction with AP1G1.		B2RCV7|Q96GG6|Q9H0V0|Q9P1L4	Missense_Mutation	SNP	ENST00000274000.5	37	c.334G>A	CCDS3696.1	.	.	.	.	.	.	.	.	.	.	G	19.14	3.769829	0.69992	.	.	ENSG00000138660	ENST00000274000	T	0.58652	0.32	5.55	3.79	0.43588	.	0.055381	0.64402	D	0.000001	T	0.47303	0.1438	L	0.38531	1.155	0.80722	D	1	B;B	0.19583	0.037;0.037	B;B	0.20184	0.028;0.028	T	0.50608	-0.8808	10	0.59425	D	0.04	-21.8436	12.625	0.56623	0.1207:0.0:0.8793:0.0	.	112;112	B2RCV7;Q63HQ0	.;AP1AR_HUMAN	T	112	ENSP00000274000:A112T	ENSP00000274000:A112T	A	+	1	0	AP1AR	113403644	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.288000	0.78691	2.605000	0.88082	0.561000	0.74099	GCA		0.423	AP1AR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256323.2	NM_018569		11	15	0	0	0	1	0	11	15					A	113184195	G	A	113184195	3	1	435	1	0	0	0	0	1	0	0	0	730	1319	46	3	356	3	AP1AR	4	113184195	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	1630580	113184195	77970081	2416	23341											
AP1AR	55435	broad.mit.edu	37	chr4	113189305	113189305	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgttcaaatcataggaatgAatagaatgcttccaatgaga	16	11	8	6	0	2	3	2	2	0	2	3	5	3	4	1	1	1	2	1	1	7	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:113189305A>C	ENST00000274000.5	+	10	1004	c.649A>C	c.(649-651)Aat>Cat	p.N217H	AP1AR_ENST00000309703.6_Missense_Mutation_p.N184H	NM_018569.4	NP_061039.3	Q63HQ0	AP1AR_HUMAN	adaptor-related protein complex 1 associated regulatory protein	217				N -> D (in Ref. 2; BAG37704). {ECO:0000305}.	cellular protein localization (GO:0034613)|negative regulation of cell motility (GO:2000146)|negative regulation of receptor recycling (GO:0001920)|negative regulation of substrate adhesion-dependent cell spreading (GO:1900025)|protein transport (GO:0015031)|regulation of Arp2/3 complex-mediated actin nucleation (GO:0034315)|vesicle targeting, trans-Golgi to endosome (GO:0048203)	cytoplasm (GO:0005737)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|transport vesicle (GO:0030133)	AP-1 adaptor complex binding (GO:0035650)|kinesin binding (GO:0019894)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)	9						CATAGGAATGAATAGAATGCT	0.328																																						ENST00000274000.5																			0				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)	9						c.(649-651)Aat>Cat		adaptor-related protein complex 1 associated regulatory protein							48	50	49					4																	113189305		2201	4300	6501	SO:0001583	missense	55435				protein transport	early endosome|Golgi apparatus|late endosome|transport vesicle		g.chr4:113189305A>C	AL136628	CCDS3696.1, CCDS47125.1	4q25	2009-09-28	2009-09-25	2009-09-25	ENSG00000138660	ENSG00000138660			28808	protein-coding gene	gene with protein product	"gamma1-adaptin brefeldin A resistance"	610851	"chromosome 4 open reading frame 16"	C4orf16		15775984	Standard	NM_018569		Approved	PRO0971, 2C18, gamma-BAR	uc003iaj.4	Q63HQ0	OTTHUMG00000132849	ENST00000274000.5:c.649A>C	4.37:g.113189305A>C	ENSP00000274000:p.Asn217His					AP1AR_ENST00000309703.6_Missense_Mutation_p.N184H	p.N217H	NM_018569.4	NP_061039.3	Q63HQ0	AP1AR_HUMAN			10	1004	+			217					B2RCV7|Q96GG6|Q9H0V0|Q9P1L4	Missense_Mutation	SNP	ENST00000274000.5	37	c.649A>C	CCDS3696.1	.	.	.	.	.	.	.	.	.	.	A	18.44	3.624530	0.66901	.	.	ENSG00000138660	ENST00000274000;ENST00000309703	T;T	0.52754	0.65;0.65	5.42	5.42	0.78866	.	0.049715	0.85682	D	0.000000	T	0.59528	0.2200	L	0.60455	1.87	0.46981	D	0.999278	P;D	0.56035	0.696;0.974	P;P	0.56700	0.598;0.804	T	0.63712	-0.6575	10	0.87932	D	0	-26.9201	14.0172	0.64531	1.0:0.0:0.0:0.0	.	184;217	Q63HQ0-2;Q63HQ0	.;AP1AR_HUMAN	H	217;184	ENSP00000274000:N217H;ENSP00000309023:N184H	ENSP00000274000:N217H	N	+	1	0	AP1AR	113408754	1.000000	0.71417	0.993000	0.49108	0.973000	0.67179	6.760000	0.74939	2.048000	0.60808	0.528000	0.53228	AAT		0.328	AP1AR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256323.2	NM_018569		15	24	0	0	0	1	0	15	24					C	113189305	A	C	113189305	3	2	435	1	0	0	0	0	1	0	0	0	730	246	9	5	687	5	AP1AR	4	113189305	Missense_Mutation	SNP	A	TCGA-XK-AAIW-01A-11D-A41K-08	5110	113189305	77964971	2417	23342											
ALPK1	80216	broad.mit.edu	37	chr4	113350345	113350345	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccaccatttgctgtccgctgCagaagcctgcaagctggcag	8	8	11	14	1	0	1	0	0	0	1	1	1	1	1	4	1	5	6	4	1	2	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:113350345C>T	ENST00000458497.1	+	10	1115	c.836C>T	c.(835-837)gCa>gTa	p.A279V	ALPK1_ENST00000504176.2_Missense_Mutation_p.A201V|ALPK1_ENST00000177648.9_Missense_Mutation_p.A279V	NM_001102406.1|NM_025144.3	NP_001095876.1|NP_079420.3	Q96QP1	ALPK1_HUMAN	alpha-kinase 1	279							ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(20)|ovary(6)|prostate(2)|urinary_tract(1)	53		Ovarian(17;0.0446)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00325)		CTGTCCGCTGCAGAAGCCTGC	0.517																																						ENST00000458497.1																			0				NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(20)|ovary(6)|prostate(2)|urinary_tract(1)	53						c.(835-837)gCa>gTa		alpha-kinase 1							134	140	138					4																	113350345		2203	4300	6503	SO:0001583	missense	80216						ATP binding|protein serine/threonine kinase activity	g.chr4:113350345C>T	AY044164	CCDS3697.1, CCDS58923.1	4q26	2008-02-05			ENSG00000073331	ENSG00000073331			20917	protein-coding gene	gene with protein product	"lymphocyte alpha-kinase"	607347				10021370, 10819331	Standard	NM_025144		Approved	Lak, FLJ22670, KIAA1527	uc003ian.4	Q96QP1	OTTHUMG00000132911	ENST00000458497.1:c.836C>T	4.37:g.113350345C>T	ENSP00000398048:p.Ala279Val					ALPK1_ENST00000504176.2_Missense_Mutation_p.A201V|ALPK1_ENST00000177648.9_Missense_Mutation_p.A279V	p.A279V	NM_001102406.1|NM_025144.3	NP_001095876.1|NP_079420.3	Q96QP1	ALPK1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.00325)	10	1115	+		Ovarian(17;0.0446)|Hepatocellular(203;0.217)	279					B4E3G1|F5H138|Q68CI9|Q6P9F9|Q6ZNK4|Q9P201	Missense_Mutation	SNP	ENST00000458497.1	37	c.836C>T	CCDS3697.1	.	.	.	.	.	.	.	.	.	.	C	37	6.313871	0.97467	.	.	ENSG00000073331	ENST00000458497;ENST00000177648;ENST00000504176	T;T;T	0.36520	1.25;1.25;1.25	5.42	5.42	0.78866	.	0.058123	0.64402	D	0.000002	T	0.61098	0.2320	M	0.77820	2.39	0.45914	D	0.998759	D;D;D	0.63046	0.992;0.989;0.986	P;P;P	0.61592	0.891;0.832;0.78	T	0.65643	-0.6118	10	0.87932	D	0	-16.2156	19.2345	0.93853	0.0:1.0:0.0:0.0	.	201;201;279	F5H138;B4E3G1;Q96QP1	.;.;ALPK1_HUMAN	V	279;279;201	ENSP00000398048:A279V;ENSP00000177648:A279V;ENSP00000426044:A201V	ENSP00000177648:A279V	A	+	2	0	ALPK1	113569794	1.000000	0.71417	0.443000	0.26883	0.874000	0.50279	6.368000	0.73104	2.550000	0.86006	0.655000	0.94253	GCA		0.517	ALPK1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256421.2	NM_025144		61	102	0	0	0	1	0	61	102					T	113350345	C	T	113350345	3	4	435	1	0	0	0	0	1	0	0	0	544	710	25	3	866	3	ALPK1	4	113350345	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	161040	113350345	77803931	2418	23343											
ANK2	287	broad.mit.edu	37	chr4	114177015	114177015	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cctgacagccctccacgttgCtgcgcactgtggccactacc	6	8	9	18	2	0	1	0	1	0	0	1	1	1	1	5	1	4	3	5	1	1	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:114177015C>T	ENST00000357077.4	+	11	1168	c.1115C>T	c.(1114-1116)gCt>gTt	p.A372V	ANK2_ENST00000264366.6_Missense_Mutation_p.A372V|ANK2_ENST00000506722.1_Missense_Mutation_p.A351V|ANK2_ENST00000394537.3_Missense_Mutation_p.A372V	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	372					atrial cardiac muscle cell action potential (GO:0086014)|atrial cardiac muscle cell to AV node cell communication (GO:0086066)|atrial septum development (GO:0003283)|axon guidance (GO:0007411)|cardiac muscle contraction (GO:0060048)|cellular calcium ion homeostasis (GO:0006874)|cellular protein localization (GO:0034613)|membrane depolarization during SA node cell action potential (GO:0086046)|paranodal junction assembly (GO:0030913)|positive regulation of calcium ion transmembrane transporter activity (GO:1901021)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cation channel activity (GO:2001259)|positive regulation of gene expression (GO:0010628)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein localization to cell surface (GO:0034394)|protein localization to endoplasmic reticulum (GO:0070972)|protein localization to M-band (GO:0036309)|protein localization to organelle (GO:0033365)|protein localization to plasma membrane (GO:0072659)|protein localization to T-tubule (GO:0036371)|protein stabilization (GO:0050821)|protein targeting to plasma membrane (GO:0072661)|regulation of calcium ion transmembrane transporter activity (GO:1901019)|regulation of calcium ion transport (GO:0051924)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to methylmercury (GO:0051597)|SA node cell action potential (GO:0086015)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|T-tubule organization (GO:0033292)|ventricular cardiac muscle cell action potential (GO:0086005)	A band (GO:0031672)|basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intracellular (GO:0005622)|M band (GO:0031430)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|potassium channel regulator activity (GO:0015459)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		CTCCACGTTGCTGCGCACTGT	0.542																																						ENST00000357077.4																			0				NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248						c.(1114-1116)gCt>gTt		ankyrin 2, neuronal							177	154	162					4																	114177015		2203	4300	6503	SO:0001583	missense	287				axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding	g.chr4:114177015C>T	M37123	CCDS3702.1, CCDS43261.1, CCDS54796.1	4q25-q26	2014-09-17	2003-03-12		ENSG00000145362	ENSG00000145362		"Ankyrin repeat domain containing"	493	protein-coding gene	gene with protein product		106410	"long (electrocardiographic) QT syndrome 4"	LQT4		7485162, 12571597	Standard	NM_001148		Approved		uc003ibe.4	Q01484	OTTHUMG00000132912	ENST00000357077.4:c.1115C>T	4.37:g.114177015C>T	ENSP00000349588:p.Ala372Val					ANK2_ENST00000264366.6_Missense_Mutation_p.A372V|ANK2_ENST00000394537.3_Missense_Mutation_p.A372V|ANK2_ENST00000506722.1_Missense_Mutation_p.A351V	p.A372V	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)	11	1168	+		Ovarian(17;0.0448)|Hepatocellular(203;0.218)	372					Q01485|Q08AC7|Q08AC8|Q7Z3L5	Missense_Mutation	SNP	ENST00000357077.4	37	c.1115C>T	CCDS3702.1	.	.	.	.	.	.	.	.	.	.	C	36	5.689889	0.96784	.	.	ENSG00000145362	ENST00000503271;ENST00000503423;ENST00000506722;ENST00000504454;ENST00000394537;ENST00000357077;ENST00000264366;ENST00000343056	T;T;T;T;T;T;T	0.80909	-1.43;-0.92;-0.92;-0.92;-0.92;-0.92;-0.92	5.91	5.91	0.95273	Ankyrin repeat-containing domain (3);	0.000000	0.56097	D	0.000036	D	0.92456	0.7605	M	0.91872	3.25	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.999;0.999;0.986;1.0	D;P;D;P;D	0.91635	0.999;0.891;0.952;0.639;0.99	D	0.93179	0.6573	10	0.87932	D	0	.	20.2896	0.98541	0.0:1.0:0.0:0.0	.	372;372;372;351;351	Q01484;Q01484-2;Q01484-4;Q01484-5;F8WEF9	ANK2_HUMAN;.;.;.;.	V	351;351;351;387;372;372;372;351	ENSP00000423799:A351V;ENSP00000421011:A351V;ENSP00000421067:A351V;ENSP00000424722:A387V;ENSP00000378044:A372V;ENSP00000349588:A372V;ENSP00000264366:A372V	ENSP00000264366:A372V	A	+	2	0	ANK2	114396464	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.814000	0.86154	2.794000	0.96219	0.655000	0.94253	GCT		0.542	ANK2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256422.2	NM_001148		38	57	0	0	0	1	0	38	57					T	114177015	C	T	114177015	3	4	435	1	0	0	0	0	1	0	0	0	621	797	28	3	1182	3	ANK2	4	114177015	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	826670	114177015	76977261	2419	23344											
ANK2	287	broad.mit.edu	37	chr4	114177072	114177072	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tttagacaagagagccaatcCgaacgccagagccctggtaa	14	6	10	11	2	0	3	0	0	0	3	1	5	1	3	4	1	3	1	4	1	5	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:114177072C>T	ENST00000357077.4	+	11	1225	c.1172C>T	c.(1171-1173)cCg>cTg	p.P391L	ANK2_ENST00000264366.6_Missense_Mutation_p.P391L|ANK2_ENST00000506722.1_Missense_Mutation_p.P370L|ANK2_ENST00000394537.3_Missense_Mutation_p.P391L	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	391					atrial cardiac muscle cell action potential (GO:0086014)|atrial cardiac muscle cell to AV node cell communication (GO:0086066)|atrial septum development (GO:0003283)|axon guidance (GO:0007411)|cardiac muscle contraction (GO:0060048)|cellular calcium ion homeostasis (GO:0006874)|cellular protein localization (GO:0034613)|membrane depolarization during SA node cell action potential (GO:0086046)|paranodal junction assembly (GO:0030913)|positive regulation of calcium ion transmembrane transporter activity (GO:1901021)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cation channel activity (GO:2001259)|positive regulation of gene expression (GO:0010628)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein localization to cell surface (GO:0034394)|protein localization to endoplasmic reticulum (GO:0070972)|protein localization to M-band (GO:0036309)|protein localization to organelle (GO:0033365)|protein localization to plasma membrane (GO:0072659)|protein localization to T-tubule (GO:0036371)|protein stabilization (GO:0050821)|protein targeting to plasma membrane (GO:0072661)|regulation of calcium ion transmembrane transporter activity (GO:1901019)|regulation of calcium ion transport (GO:0051924)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to methylmercury (GO:0051597)|SA node cell action potential (GO:0086015)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|T-tubule organization (GO:0033292)|ventricular cardiac muscle cell action potential (GO:0086005)	A band (GO:0031672)|basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intracellular (GO:0005622)|M band (GO:0031430)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|potassium channel regulator activity (GO:0015459)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		AGAGCCAATCCGAACGCCAGA	0.493																																						ENST00000357077.4																			0				NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248						c.(1171-1173)cCg>cTg		ankyrin 2, neuronal							104	96	99					4																	114177072		2203	4300	6503	SO:0001583	missense	287				axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding	g.chr4:114177072C>T	M37123	CCDS3702.1, CCDS43261.1, CCDS54796.1	4q25-q26	2014-09-17	2003-03-12		ENSG00000145362	ENSG00000145362		"Ankyrin repeat domain containing"	493	protein-coding gene	gene with protein product		106410	"long (electrocardiographic) QT syndrome 4"	LQT4		7485162, 12571597	Standard	NM_001148		Approved		uc003ibe.4	Q01484	OTTHUMG00000132912	ENST00000357077.4:c.1172C>T	4.37:g.114177072C>T	ENSP00000349588:p.Pro391Leu					ANK2_ENST00000264366.6_Missense_Mutation_p.P391L|ANK2_ENST00000394537.3_Missense_Mutation_p.P391L|ANK2_ENST00000506722.1_Missense_Mutation_p.P370L	p.P391L	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)	11	1225	+		Ovarian(17;0.0448)|Hepatocellular(203;0.218)	391					Q01485|Q08AC7|Q08AC8|Q7Z3L5	Missense_Mutation	SNP	ENST00000357077.4	37	c.1172C>T	CCDS3702.1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.280366	0.80692	.	.	ENSG00000145362	ENST00000503271;ENST00000503423;ENST00000506722;ENST00000504454;ENST00000394537;ENST00000357077;ENST00000264366;ENST00000343056	T;T;T;T;T;T;T	0.69926	-0.44;-0.01;-0.01;-0.01;-0.01;-0.01;-0.01	5.91	5.91	0.95273	Ankyrin repeat-containing domain (3);	0.112103	0.40064	N	0.001191	T	0.65004	0.2650	N	0.16016	0.355	0.80722	D	1	P;D;B;P;D	0.55385	0.5;0.964;0.006;0.531;0.971	B;P;B;B;P	0.53006	0.127;0.49;0.016;0.056;0.715	T	0.68777	-0.5319	10	0.56958	D	0.05	.	20.2896	0.98541	0.0:1.0:0.0:0.0	.	391;391;391;370;370	Q01484;Q01484-2;Q01484-4;Q01484-5;F8WEF9	ANK2_HUMAN;.;.;.;.	L	370;370;370;406;391;391;391;370	ENSP00000423799:P370L;ENSP00000421011:P370L;ENSP00000421067:P370L;ENSP00000424722:P406L;ENSP00000378044:P391L;ENSP00000349588:P391L;ENSP00000264366:P391L	ENSP00000264366:P391L	P	+	2	0	ANK2	114396521	1.000000	0.71417	0.431000	0.26735	0.601000	0.36947	7.814000	0.86154	2.794000	0.96219	0.655000	0.94253	CCG		0.493	ANK2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256422.2	NM_001148		19	45	0	0	0	1	0	19	45					T	114177072	C	T	114177072	3	4	435	1	0	0	0	0	1	0	0	0	621	652	23	2	1239	2	ANK2	4	114177072	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	57	114177072	76977204	2420	23345											
ANK2	287	broad.mit.edu	37	chr4	114238872	114238872	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caacctaccagccttcgatcCttcagttccgacaggtctca	9	10	6	16	2	2	0	2	0	1	0	6	2	4	0	5	1	3	1	5	1	2	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:114238872C>A	ENST00000357077.4	+	25	2756	c.2703C>A	c.(2701-2703)tcC>tcA	p.S901S	ANK2_ENST00000264366.6_Silent_p.S901S|ANK2_ENST00000509550.1_Silent_p.S110S|ANK2_ENST00000506722.1_Silent_p.S880S|ANK2_ENST00000394537.3_Silent_p.S901S	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	901					atrial cardiac muscle cell action potential (GO:0086014)|atrial cardiac muscle cell to AV node cell communication (GO:0086066)|atrial septum development (GO:0003283)|axon guidance (GO:0007411)|cardiac muscle contraction (GO:0060048)|cellular calcium ion homeostasis (GO:0006874)|cellular protein localization (GO:0034613)|membrane depolarization during SA node cell action potential (GO:0086046)|paranodal junction assembly (GO:0030913)|positive regulation of calcium ion transmembrane transporter activity (GO:1901021)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cation channel activity (GO:2001259)|positive regulation of gene expression (GO:0010628)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein localization to cell surface (GO:0034394)|protein localization to endoplasmic reticulum (GO:0070972)|protein localization to M-band (GO:0036309)|protein localization to organelle (GO:0033365)|protein localization to plasma membrane (GO:0072659)|protein localization to T-tubule (GO:0036371)|protein stabilization (GO:0050821)|protein targeting to plasma membrane (GO:0072661)|regulation of calcium ion transmembrane transporter activity (GO:1901019)|regulation of calcium ion transport (GO:0051924)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to methylmercury (GO:0051597)|SA node cell action potential (GO:0086015)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|T-tubule organization (GO:0033292)|ventricular cardiac muscle cell action potential (GO:0086005)	A band (GO:0031672)|basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intracellular (GO:0005622)|M band (GO:0031430)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|potassium channel regulator activity (GO:0015459)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		GCCTTCGATCCTTCAGTTCCG	0.527																																						ENST00000357077.4																			0				NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248						c.(2701-2703)tcC>tcA		ankyrin 2, neuronal							167	134	145					4																	114238872		2203	4300	6503	SO:0001819	synonymous_variant	287				axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding	g.chr4:114238872C>A	M37123	CCDS3702.1, CCDS43261.1, CCDS54796.1	4q25-q26	2014-09-17	2003-03-12		ENSG00000145362	ENSG00000145362		"Ankyrin repeat domain containing"	493	protein-coding gene	gene with protein product		106410	"long (electrocardiographic) QT syndrome 4"	LQT4		7485162, 12571597	Standard	NM_001148		Approved		uc003ibe.4	Q01484	OTTHUMG00000132912	ENST00000357077.4:c.2703C>A	4.37:g.114238872C>A						ANK2_ENST00000509550.1_Silent_p.S110S|ANK2_ENST00000264366.6_Silent_p.S901S|ANK2_ENST00000394537.3_Silent_p.S901S|ANK2_ENST00000506722.1_Silent_p.S880S	p.S901S	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)	25	2756	+		Ovarian(17;0.0448)|Hepatocellular(203;0.218)	901					Q01485|Q08AC7|Q08AC8|Q7Z3L5	Silent	SNP	ENST00000357077.4	37	c.2703C>A	CCDS3702.1																																																																																				0.527	ANK2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256422.2	NM_001148		10	16	1	0	2.80697e-09	1	2.97546e-09	10	16					A	114238872	C	A	114238872	2	1	435	1	0	0	0	0	0	0	0	1	621	668	24	5		5	ANK2	4	114238872	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	61800	114238872	76915404	2421	23346											
ANK2	287	broad.mit.edu	37	chr4	114275899	114275899	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gatactaacccagagagaagCtcagaaaacagagaatcaga	20	4	9	8	0	2	5	2	0	0	5	2	8	2	5	1	0	4	1	1	0	6	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:114275899C>T	ENST00000357077.4	+	38	6178	c.6125C>T	c.(6124-6126)gCt>gTt	p.A2042V	ANK2_ENST00000264366.6_Missense_Mutation_p.A2009V|ANK2_ENST00000509550.1_Intron|ANK2_ENST00000506722.1_Intron|ANK2_ENST00000510275.2_Intron|ANK2_ENST00000394537.3_Intron	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	2042					atrial cardiac muscle cell action potential (GO:0086014)|atrial cardiac muscle cell to AV node cell communication (GO:0086066)|atrial septum development (GO:0003283)|axon guidance (GO:0007411)|cardiac muscle contraction (GO:0060048)|cellular calcium ion homeostasis (GO:0006874)|cellular protein localization (GO:0034613)|membrane depolarization during SA node cell action potential (GO:0086046)|paranodal junction assembly (GO:0030913)|positive regulation of calcium ion transmembrane transporter activity (GO:1901021)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cation channel activity (GO:2001259)|positive regulation of gene expression (GO:0010628)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein localization to cell surface (GO:0034394)|protein localization to endoplasmic reticulum (GO:0070972)|protein localization to M-band (GO:0036309)|protein localization to organelle (GO:0033365)|protein localization to plasma membrane (GO:0072659)|protein localization to T-tubule (GO:0036371)|protein stabilization (GO:0050821)|protein targeting to plasma membrane (GO:0072661)|regulation of calcium ion transmembrane transporter activity (GO:1901019)|regulation of calcium ion transport (GO:0051924)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to methylmercury (GO:0051597)|SA node cell action potential (GO:0086015)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|T-tubule organization (GO:0033292)|ventricular cardiac muscle cell action potential (GO:0086005)	A band (GO:0031672)|basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intracellular (GO:0005622)|M band (GO:0031430)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|potassium channel regulator activity (GO:0015459)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		CAGAGAGAAGCTCAGAAAACA	0.463																																						ENST00000357077.4																			0				NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248						c.(6124-6126)gCt>gTt		ankyrin 2, neuronal							56	65	62					4																	114275899		2203	4300	6503	SO:0001583	missense	287				axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding	g.chr4:114275899C>T	M37123	CCDS3702.1, CCDS43261.1, CCDS54796.1	4q25-q26	2014-09-17	2003-03-12		ENSG00000145362	ENSG00000145362		"Ankyrin repeat domain containing"	493	protein-coding gene	gene with protein product		106410	"long (electrocardiographic) QT syndrome 4"	LQT4		7485162, 12571597	Standard	NM_001148		Approved		uc003ibe.4	Q01484	OTTHUMG00000132912	ENST00000357077.4:c.6125C>T	4.37:g.114275899C>T	ENSP00000349588:p.Ala2042Val					ANK2_ENST00000509550.1_Intron|ANK2_ENST00000264366.6_Missense_Mutation_p.A2009V|ANK2_ENST00000394537.3_Intron|ANK2_ENST00000506722.1_Intron|ANK2_ENST00000510275.2_Intron	p.A2042V	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)	38	6178	+		Ovarian(17;0.0448)|Hepatocellular(203;0.218)	2009					Q01485|Q08AC7|Q08AC8|Q7Z3L5	Missense_Mutation	SNP	ENST00000357077.4	37	c.6125C>T	CCDS3702.1	.	.	.	.	.	.	.	.	.	.	C	3.300	-0.143161	0.06669	.	.	ENSG00000145362	ENST00000357077;ENST00000264366	T;T	0.66460	-0.19;-0.21	5.31	-2.88	0.05682	.	1.868940	0.02697	N	0.111375	T	0.47135	0.1429	N	0.14661	0.345	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.25222	-1.0138	9	.	.	.	.	8.3473	0.32281	0.0:0.3176:0.1132:0.5692	.	2009;2042	Q01484;Q01484-4	ANK2_HUMAN;.	V	2042;2009	ENSP00000349588:A2042V;ENSP00000264366:A2009V	.	A	+	2	0	ANK2	114495348	0.000000	0.05858	0.000000	0.03702	0.063000	0.16089	0.175000	0.16762	-0.700000	0.05070	-0.251000	0.11542	GCT		0.463	ANK2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256422.2	NM_001148		15	32	0	0	0	1	0	15	32					T	114275899	C	T	114275899	3	4	435	1	0	0	0	0	1	0	0	0	621	797	28	3	6340	3	ANK2	4	114275899	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	37027	114275899	76878377	2422	23347											
ANK2	287	broad.mit.edu	37	chr4	114276470	114276470	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agttcagaagaaagctataaGcatgaaggcctagcagagac	17	6	11	7	0	1	4	1	1	0	3	1	5	1	4	1	1	3	4	1	1	6	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:114276470G>A	ENST00000357077.4	+	38	6749	c.6696G>A	c.(6694-6696)aaG>aaA	p.K2232K	ANK2_ENST00000264366.6_Silent_p.K2199K|ANK2_ENST00000509550.1_Intron|ANK2_ENST00000506722.1_Intron|ANK2_ENST00000510275.2_Intron|ANK2_ENST00000394537.3_Intron	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	2232					atrial cardiac muscle cell action potential (GO:0086014)|atrial cardiac muscle cell to AV node cell communication (GO:0086066)|atrial septum development (GO:0003283)|axon guidance (GO:0007411)|cardiac muscle contraction (GO:0060048)|cellular calcium ion homeostasis (GO:0006874)|cellular protein localization (GO:0034613)|membrane depolarization during SA node cell action potential (GO:0086046)|paranodal junction assembly (GO:0030913)|positive regulation of calcium ion transmembrane transporter activity (GO:1901021)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cation channel activity (GO:2001259)|positive regulation of gene expression (GO:0010628)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein localization to cell surface (GO:0034394)|protein localization to endoplasmic reticulum (GO:0070972)|protein localization to M-band (GO:0036309)|protein localization to organelle (GO:0033365)|protein localization to plasma membrane (GO:0072659)|protein localization to T-tubule (GO:0036371)|protein stabilization (GO:0050821)|protein targeting to plasma membrane (GO:0072661)|regulation of calcium ion transmembrane transporter activity (GO:1901019)|regulation of calcium ion transport (GO:0051924)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to methylmercury (GO:0051597)|SA node cell action potential (GO:0086015)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|T-tubule organization (GO:0033292)|ventricular cardiac muscle cell action potential (GO:0086005)	A band (GO:0031672)|basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intracellular (GO:0005622)|M band (GO:0031430)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|potassium channel regulator activity (GO:0015459)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		AAAGCTATAAGCATGAAGGCC	0.512																																						ENST00000357077.4																			0				NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248						c.(6694-6696)aaG>aaA		ankyrin 2, neuronal							59	64	62					4																	114276470		2203	4299	6502	SO:0001819	synonymous_variant	287				axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding	g.chr4:114276470G>A	M37123	CCDS3702.1, CCDS43261.1, CCDS54796.1	4q25-q26	2014-09-17	2003-03-12		ENSG00000145362	ENSG00000145362		"Ankyrin repeat domain containing"	493	protein-coding gene	gene with protein product		106410	"long (electrocardiographic) QT syndrome 4"	LQT4		7485162, 12571597	Standard	NM_001148		Approved		uc003ibe.4	Q01484	OTTHUMG00000132912	ENST00000357077.4:c.6696G>A	4.37:g.114276470G>A						ANK2_ENST00000509550.1_Intron|ANK2_ENST00000264366.6_Silent_p.K2199K|ANK2_ENST00000394537.3_Intron|ANK2_ENST00000506722.1_Intron|ANK2_ENST00000510275.2_Intron	p.K2232K	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)	38	6749	+		Ovarian(17;0.0448)|Hepatocellular(203;0.218)	2199					Q01485|Q08AC7|Q08AC8|Q7Z3L5	Silent	SNP	ENST00000357077.4	37	c.6696G>A	CCDS3702.1																																																																																				0.512	ANK2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256422.2	NM_001148		5	39	0	0	0	1	0	5	39					A	114276470	G	A	114276470	2	1	435	1	0	0	0	0	0	0	0	1	621	962	34	3		3	ANK2	4	114276470	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	571	114276470	76877806	2423	23348											
ANK2	287	broad.mit.edu	37	chr4	114277565	114277565	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atggtaaccaaaatcaaaatGtttgatgaacttgaacaaga	19	10	7	5	0	1	4	1	3	0	1	1	4	1	4	1	1	3	2	1	1	8	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:114277565G>A	ENST00000357077.4	+	38	7844	c.7791G>A	c.(7789-7791)atG>atA	p.M2597I	ANK2_ENST00000264366.6_Missense_Mutation_p.M2564I|ANK2_ENST00000509550.1_Intron|ANK2_ENST00000506722.1_Intron|ANK2_ENST00000510275.2_Intron|ANK2_ENST00000394537.3_Intron	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	2597					atrial cardiac muscle cell action potential (GO:0086014)|atrial cardiac muscle cell to AV node cell communication (GO:0086066)|atrial septum development (GO:0003283)|axon guidance (GO:0007411)|cardiac muscle contraction (GO:0060048)|cellular calcium ion homeostasis (GO:0006874)|cellular protein localization (GO:0034613)|membrane depolarization during SA node cell action potential (GO:0086046)|paranodal junction assembly (GO:0030913)|positive regulation of calcium ion transmembrane transporter activity (GO:1901021)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cation channel activity (GO:2001259)|positive regulation of gene expression (GO:0010628)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein localization to cell surface (GO:0034394)|protein localization to endoplasmic reticulum (GO:0070972)|protein localization to M-band (GO:0036309)|protein localization to organelle (GO:0033365)|protein localization to plasma membrane (GO:0072659)|protein localization to T-tubule (GO:0036371)|protein stabilization (GO:0050821)|protein targeting to plasma membrane (GO:0072661)|regulation of calcium ion transmembrane transporter activity (GO:1901019)|regulation of calcium ion transport (GO:0051924)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to methylmercury (GO:0051597)|SA node cell action potential (GO:0086015)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|T-tubule organization (GO:0033292)|ventricular cardiac muscle cell action potential (GO:0086005)	A band (GO:0031672)|basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intracellular (GO:0005622)|M band (GO:0031430)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|potassium channel regulator activity (GO:0015459)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		AAATCAAAATGTTTGATGAAC	0.383																																						ENST00000357077.4																			0				NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248						c.(7789-7791)atG>atA		ankyrin 2, neuronal							99	104	102					4																	114277565		2203	4300	6503	SO:0001583	missense	287				axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding	g.chr4:114277565G>A	M37123	CCDS3702.1, CCDS43261.1, CCDS54796.1	4q25-q26	2014-09-17	2003-03-12		ENSG00000145362	ENSG00000145362		"Ankyrin repeat domain containing"	493	protein-coding gene	gene with protein product		106410	"long (electrocardiographic) QT syndrome 4"	LQT4		7485162, 12571597	Standard	NM_001148		Approved		uc003ibe.4	Q01484	OTTHUMG00000132912	ENST00000357077.4:c.7791G>A	4.37:g.114277565G>A	ENSP00000349588:p.Met2597Ile					ANK2_ENST00000509550.1_Intron|ANK2_ENST00000264366.6_Missense_Mutation_p.M2564I|ANK2_ENST00000394537.3_Intron|ANK2_ENST00000506722.1_Intron|ANK2_ENST00000510275.2_Intron	p.M2597I	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)	38	7844	+		Ovarian(17;0.0448)|Hepatocellular(203;0.218)	2564					Q01485|Q08AC7|Q08AC8|Q7Z3L5	Missense_Mutation	SNP	ENST00000357077.4	37	c.7791G>A	CCDS3702.1	.	.	.	.	.	.	.	.	.	.	G	6.957	0.546369	0.13312	.	.	ENSG00000145362	ENST00000357077;ENST00000264366	T;T	0.66638	-0.21;-0.22	6.11	2.4	0.29515	.	0.303320	0.28921	N	0.013718	T	0.45975	0.1369	N	0.24115	0.695	0.80722	D	1	B;B	0.24258	0.1;0.01	B;B	0.21151	0.024;0.033	T	0.13282	-1.0515	9	.	.	.	.	7.368	0.26785	0.2612:0.1192:0.6196:0.0	.	2564;2597	Q01484;Q01484-4	ANK2_HUMAN;.	I	2597;2564	ENSP00000349588:M2597I;ENSP00000264366:M2564I	.	M	+	3	0	ANK2	114497014	0.010000	0.17322	0.769000	0.31535	0.887000	0.51463	-0.007000	0.12810	0.119000	0.18210	0.655000	0.94253	ATG		0.383	ANK2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256422.2	NM_001148		30	30	0	0	0	1	0	30	30					A	114277565	G	A	114277565	3	1	435	1	0	0	0	0	1	0	0	0	621	1377	48	3	8006	3	ANK2	4	114277565	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	1095	114277565	76876711	2424	23349											
ANK2	287	broad.mit.edu	37	chr4	114278013	114278013	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aatcccatttagctgaagacCgtcatgctgtttccactgag	10	12	8	11	1	1	3	1	2	0	1	3	3	3	3	3	0	2	3	3	0	3	3	rs376628082		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:114278013C>A	ENST00000357077.4	+	38	8292	c.8239C>A	c.(8239-8241)Cgt>Agt	p.R2747S	ANK2_ENST00000264366.6_Missense_Mutation_p.R2714S|ANK2_ENST00000509550.1_Intron|ANK2_ENST00000506722.1_Intron|ANK2_ENST00000510275.2_Intron|ANK2_ENST00000394537.3_Intron	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	2747					atrial cardiac muscle cell action potential (GO:0086014)|atrial cardiac muscle cell to AV node cell communication (GO:0086066)|atrial septum development (GO:0003283)|axon guidance (GO:0007411)|cardiac muscle contraction (GO:0060048)|cellular calcium ion homeostasis (GO:0006874)|cellular protein localization (GO:0034613)|membrane depolarization during SA node cell action potential (GO:0086046)|paranodal junction assembly (GO:0030913)|positive regulation of calcium ion transmembrane transporter activity (GO:1901021)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cation channel activity (GO:2001259)|positive regulation of gene expression (GO:0010628)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein localization to cell surface (GO:0034394)|protein localization to endoplasmic reticulum (GO:0070972)|protein localization to M-band (GO:0036309)|protein localization to organelle (GO:0033365)|protein localization to plasma membrane (GO:0072659)|protein localization to T-tubule (GO:0036371)|protein stabilization (GO:0050821)|protein targeting to plasma membrane (GO:0072661)|regulation of calcium ion transmembrane transporter activity (GO:1901019)|regulation of calcium ion transport (GO:0051924)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to methylmercury (GO:0051597)|SA node cell action potential (GO:0086015)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|T-tubule organization (GO:0033292)|ventricular cardiac muscle cell action potential (GO:0086005)	A band (GO:0031672)|basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intracellular (GO:0005622)|M band (GO:0031430)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|potassium channel regulator activity (GO:0015459)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		AGCTGAAGACCGTCATGCTGT	0.418																																						ENST00000357077.4																			0				NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248						c.(8239-8241)Cgt>Agt		ankyrin 2, neuronal							74	69	71					4																	114278013		2203	4300	6503	SO:0001583	missense	287				axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding	g.chr4:114278013C>A	M37123	CCDS3702.1, CCDS43261.1, CCDS54796.1	4q25-q26	2014-09-17	2003-03-12		ENSG00000145362	ENSG00000145362		"Ankyrin repeat domain containing"	493	protein-coding gene	gene with protein product		106410	"long (electrocardiographic) QT syndrome 4"	LQT4		7485162, 12571597	Standard	NM_001148		Approved		uc003ibe.4	Q01484	OTTHUMG00000132912	ENST00000357077.4:c.8239C>A	4.37:g.114278013C>A	ENSP00000349588:p.Arg2747Ser					ANK2_ENST00000509550.1_Intron|ANK2_ENST00000264366.6_Missense_Mutation_p.R2714S|ANK2_ENST00000394537.3_Intron|ANK2_ENST00000506722.1_Intron|ANK2_ENST00000510275.2_Intron	p.R2747S	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)	38	8292	+		Ovarian(17;0.0448)|Hepatocellular(203;0.218)	2714					Q01485|Q08AC7|Q08AC8|Q7Z3L5	Missense_Mutation	SNP	ENST00000357077.4	37	c.8239C>A	CCDS3702.1	.	.	.	.	.	.	.	.	.	.	A	2.160	-0.392351	0.04932	.	.	ENSG00000145362	ENST00000357077;ENST00000264366	T;T	0.64438	-0.08;-0.1	6.03	2.42	0.29668	.	0.474192	0.21144	N	0.079421	T	0.18841	0.0452	N	0.00197	-1.87	0.09310	N	0.999999	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.30534	-0.9975	9	.	.	.	.	5.3494	0.16028	0.6536:0.1379:0.2085:0.0	.	2714;2747	Q01484;Q01484-4	ANK2_HUMAN;.	S	2747;2714	ENSP00000349588:R2747S;ENSP00000264366:R2714S	.	R	+	1	0	ANK2	114497462	0.000000	0.05858	0.010000	0.14722	0.166000	0.22503	0.455000	0.21843	0.189000	0.20188	-0.256000	0.11100	CGT		0.418	ANK2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256422.2	NM_001148		21	50	1	0	7.45023e-12	1	8.03714e-12	21	50					A	114278013	C	A	114278013	3	1	435	1	0	0	0	0	1	0	0	0	621	652	23	5	8454	5	ANK2	4	114278013	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	448	114278013	76876263	2425	23350											
ANK2	287	broad.mit.edu	37	chr4	114278439	114278439	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	catttgagaacttaccaaagGactgcccctctcaagactca	13	9	6	13	0	2	2	2	1	1	2	3	4	2	3	3	1	3	0	3	1	4	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:114278439G>A	ENST00000357077.4	+	38	8718	c.8665G>A	c.(8665-8667)Gac>Aac	p.D2889N	ANK2_ENST00000264366.6_Missense_Mutation_p.D2856N|ANK2_ENST00000509550.1_Intron|ANK2_ENST00000506722.1_Intron|ANK2_ENST00000510275.2_Intron|ANK2_ENST00000394537.3_Intron	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	2889					atrial cardiac muscle cell action potential (GO:0086014)|atrial cardiac muscle cell to AV node cell communication (GO:0086066)|atrial septum development (GO:0003283)|axon guidance (GO:0007411)|cardiac muscle contraction (GO:0060048)|cellular calcium ion homeostasis (GO:0006874)|cellular protein localization (GO:0034613)|membrane depolarization during SA node cell action potential (GO:0086046)|paranodal junction assembly (GO:0030913)|positive regulation of calcium ion transmembrane transporter activity (GO:1901021)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cation channel activity (GO:2001259)|positive regulation of gene expression (GO:0010628)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein localization to cell surface (GO:0034394)|protein localization to endoplasmic reticulum (GO:0070972)|protein localization to M-band (GO:0036309)|protein localization to organelle (GO:0033365)|protein localization to plasma membrane (GO:0072659)|protein localization to T-tubule (GO:0036371)|protein stabilization (GO:0050821)|protein targeting to plasma membrane (GO:0072661)|regulation of calcium ion transmembrane transporter activity (GO:1901019)|regulation of calcium ion transport (GO:0051924)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to methylmercury (GO:0051597)|SA node cell action potential (GO:0086015)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|T-tubule organization (GO:0033292)|ventricular cardiac muscle cell action potential (GO:0086005)	A band (GO:0031672)|basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intracellular (GO:0005622)|M band (GO:0031430)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|potassium channel regulator activity (GO:0015459)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		CTTACCAAAGGACTGCCCCTC	0.383																																						ENST00000357077.4																			0				NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248						c.(8665-8667)Gac>Aac		ankyrin 2, neuronal							127	125	126					4																	114278439		2203	4300	6503	SO:0001583	missense	287				axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding	g.chr4:114278439G>A	M37123	CCDS3702.1, CCDS43261.1, CCDS54796.1	4q25-q26	2014-09-17	2003-03-12		ENSG00000145362	ENSG00000145362		"Ankyrin repeat domain containing"	493	protein-coding gene	gene with protein product		106410	"long (electrocardiographic) QT syndrome 4"	LQT4		7485162, 12571597	Standard	NM_001148		Approved		uc003ibe.4	Q01484	OTTHUMG00000132912	ENST00000357077.4:c.8665G>A	4.37:g.114278439G>A	ENSP00000349588:p.Asp2889Asn					ANK2_ENST00000509550.1_Intron|ANK2_ENST00000264366.6_Missense_Mutation_p.D2856N|ANK2_ENST00000394537.3_Intron|ANK2_ENST00000506722.1_Intron|ANK2_ENST00000510275.2_Intron	p.D2889N	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)	38	8718	+		Ovarian(17;0.0448)|Hepatocellular(203;0.218)	2856					Q01485|Q08AC7|Q08AC8|Q7Z3L5	Missense_Mutation	SNP	ENST00000357077.4	37	c.8665G>A	CCDS3702.1	.	.	.	.	.	.	.	.	.	.	G	12.46	1.944140	0.34283	.	.	ENSG00000145362	ENST00000357077;ENST00000264366	T;T	0.68765	-0.34;-0.35	5.43	3.38	0.38709	.	0.492179	0.18350	N	0.143906	T	0.64136	0.2571	M	0.70275	2.135	0.18873	N	0.999989	B;B	0.15141	0.012;0.01	B;B	0.13407	0.006;0.009	T	0.55127	-0.8189	9	.	.	.	.	12.9733	0.58525	0.1541:0.0:0.8459:0.0	.	2856;2889	Q01484;Q01484-4	ANK2_HUMAN;.	N	2889;2856	ENSP00000349588:D2889N;ENSP00000264366:D2856N	.	D	+	1	0	ANK2	114497888	0.031000	0.19500	0.015000	0.15790	0.041000	0.13682	2.265000	0.43311	1.276000	0.44395	-0.140000	0.14226	GAC		0.383	ANK2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256422.2	NM_001148		39	53	0	0	0	1	0	39	53					A	114278439	G	A	114278439	3	1	435	1	0	0	0	0	1	0	0	0	621	1174	41	3	8880	3	ANK2	4	114278439	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	426	114278439	76875837	2426	23351											
CAMK2D	817	broad.mit.edu	37	chr4	114424106	114424106	+	Intron	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gaataccttgtttccatcagGgttgtggattacagtagttt	9	16	10	6	0	1	0	1	0	0	0	2	2	2	1	2	2	2	4	2	2	4	7	rs184472809		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:114424106G>A	ENST00000342666.5	-	14	984				CAMK2D_ENST00000508738.1_Intron|CAMK2D_ENST00000394526.2_Intron|CAMK2D_ENST00000394522.3_Missense_Mutation_p.P338S|CAMK2D_ENST00000418639.2_Missense_Mutation_p.P338S|CAMK2D_ENST00000514328.1_Intron|CAMK2D_ENST00000394524.3_Intron|CAMK2D_ENST00000429180.1_Intron|CAMK2D_ENST00000296402.5_Intron|CAMK2D_ENST00000511664.1_Missense_Mutation_p.P358S|CAMK2D_ENST00000515496.1_Intron|CAMK2D_ENST00000454265.2_Missense_Mutation_p.P349S|CAMK2D_ENST00000505990.1_Missense_Mutation_p.P358S|CAMK2D_ENST00000379773.2_Intron			Q13557	KCC2D_HUMAN	calcium/calmodulin-dependent protein kinase II delta						calcium ion transport (GO:0006816)|cardiac muscle cell contraction (GO:0086003)|cellular response to calcium ion (GO:0071277)|cytokine-mediated signaling pathway (GO:0019221)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|G1/S transition of mitotic cell cycle (GO:0000082)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of sodium ion transmembrane transport (GO:1902306)|negative regulation of sodium ion transmembrane transporter activity (GO:2000650)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|protein autophosphorylation (GO:0046777)|protein oligomerization (GO:0051259)|protein phosphorylation (GO:0006468)|regulation of cardiac muscle cell action potential (GO:0098901)|regulation of cardiac muscle cell action potential involved in regulation of contraction (GO:0098909)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cell communication by electrical coupling (GO:0010649)|regulation of cell communication by electrical coupling involved in cardiac conduction (GO:1901844)|regulation of cell growth (GO:0001558)|regulation of cellular localization (GO:0060341)|regulation of generation of L-type calcium current (GO:1902514)|regulation of heart contraction (GO:0008016)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of histone deacetylase activity (GO:1901725)|regulation of membrane depolarization (GO:0003254)|regulation of relaxation of cardiac muscle (GO:1901897)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of the force of heart contraction (GO:0002026)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|relaxation of cardiac muscle (GO:0055119)|synaptic transmission (GO:0007268)	axon initial segment (GO:0043194)|calcium channel complex (GO:0034704)|calcium- and calmodulin-dependent protein kinase complex (GO:0005954)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|intercalated disc (GO:0014704)|membrane (GO:0016020)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)	ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|calmodulin-dependent protein kinase activity (GO:0004683)|ion channel binding (GO:0044325)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activity (GO:0004674)|sodium channel inhibitor activity (GO:0019871)|titin binding (GO:0031432)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)	13		Ovarian(17;0.00369)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000271)		TTTCCATCAGGGTTGTGGATT	0.343													G|||	1	0.000199681	8e-04	0	5008	,	,		20656	0		0	False		,,,				2504	0					ENST00000454265.2																			0				breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)	13						c.(1045-1047)Cct>Tct		calcium/calmodulin-dependent protein kinase II delta							179	155	162					4																	114424106		1568	3582	5150	SO:0001627	intron_variant	817				interferon-gamma-mediated signaling pathway|regulation of cell growth|synaptic transmission	calcium- and calmodulin-dependent protein kinase complex|cytosol|endocytic vesicle membrane|nucleoplasm|plasma membrane	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity	g.chr4:114424106G>A	U50361	CCDS3703.1, CCDS3704.1, CCDS43263.1, CCDS47127.1, CCDS54797.1	4q26	2008-10-30	2008-10-30		ENSG00000145349	ENSG00000145349			1462	protein-coding gene	gene with protein product		607708	"calcium/calmodulin-dependent protein kinase (CaM kinase) II delta"	CAMKD			Standard	NM_001221		Approved		uc003ibi.3	Q13557	OTTHUMG00000132910	ENST00000342666.5:c.985-2439C>T	4.37:g.114424106G>A						CAMK2D_ENST00000429180.1_Intron|CAMK2D_ENST00000511664.1_Missense_Mutation_p.P358S|CAMK2D_ENST00000508738.1_Intron|CAMK2D_ENST00000342666.5_Intron|CAMK2D_ENST00000379773.2_Intron|CAMK2D_ENST00000394526.2_Intron|CAMK2D_ENST00000394522.3_Missense_Mutation_p.P338S|CAMK2D_ENST00000505990.1_Missense_Mutation_p.P358S|CAMK2D_ENST00000515496.1_Intron|CAMK2D_ENST00000418639.2_Missense_Mutation_p.P338S|CAMK2D_ENST00000514328.1_Intron|CAMK2D_ENST00000394524.3_Intron|CAMK2D_ENST00000296402.5_Intron	p.P349S			Q13557	KCC2D_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000271)	15	1903	-		Ovarian(17;0.00369)|Hepatocellular(203;0.217)	327					A8MVS8|Q52PK4|Q59G21|Q8N553|Q9UGH6|Q9UQE9	Missense_Mutation	SNP	ENST00000342666.5	37	c.1045C>T	CCDS3703.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	14.49	2.551335	0.45383	.	.	ENSG00000145349	ENST00000454265;ENST00000418639;ENST00000511664;ENST00000394522;ENST00000505990	T;T;T;T;T	0.67698	-0.21;-0.18;-0.28;-0.24;-0.26	5.39	5.39	0.77823	.	.	.	.	.	T	0.57519	0.2059	L	0.45581	1.43	0.80722	D	1	B;P	0.38504	0.0;0.634	B;B	0.31101	0.0;0.124	T	0.56613	-0.7950	9	0.15066	T	0.55	.	19.5232	0.95194	0.0:0.0:1.0:0.0	.	358;338	E9PF82;Q13557-6	.;.	S	349;338;358;338;358	ENSP00000415248:P349S;ENSP00000406131:P338S;ENSP00000425824:P358S;ENSP00000378030:P338S;ENSP00000424245:P358S	ENSP00000378030:P338S	P	-	1	0	CAMK2D	114643555	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.835000	0.86780	2.677000	0.91161	0.655000	0.94253	CCT		0.343	CAMK2D-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256420.2			13	24	0	0	0	1	0	13	24					A	114424106	G	A	114424106	1	1	435	0	1	0	0	0	0	0	0	0	2601	1232	43	3		3	CAMK2D	4	114424106	Intron	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	145667	114424106	76730170	2427	23352											
CAMK2D	817	broad.mit.edu	37	chr4	114530360	114530360	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgatatgctatcatgaagtcGcactagaaaaaaataagaga	19	9	8	5	1	1	4	1	2	0	2	2	5	1	4	0	0	1	2	0	0	8	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:114530360G>A	ENST00000342666.5	-	4	222	c.223C>T	c.(223-225)Cga>Tga	p.R75*	CAMK2D_ENST00000508738.1_Nonsense_Mutation_p.R75*|CAMK2D_ENST00000394526.2_Nonsense_Mutation_p.R75*|CAMK2D_ENST00000394522.3_Nonsense_Mutation_p.R75*|CAMK2D_ENST00000418639.2_Nonsense_Mutation_p.R75*|CAMK2D_ENST00000514328.1_Nonsense_Mutation_p.R75*|CAMK2D_ENST00000394524.3_Nonsense_Mutation_p.R75*|CAMK2D_ENST00000429180.1_Nonsense_Mutation_p.R75*|CAMK2D_ENST00000296402.5_Nonsense_Mutation_p.R75*|CAMK2D_ENST00000511664.1_Nonsense_Mutation_p.R75*|CAMK2D_ENST00000515496.1_Nonsense_Mutation_p.R75*|CAMK2D_ENST00000454265.2_Nonsense_Mutation_p.R75*|CAMK2D_ENST00000505990.1_Nonsense_Mutation_p.R75*|CAMK2D_ENST00000379773.2_Nonsense_Mutation_p.R75*			Q13557	KCC2D_HUMAN	calcium/calmodulin-dependent protein kinase II delta	75	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				calcium ion transport (GO:0006816)|cardiac muscle cell contraction (GO:0086003)|cellular response to calcium ion (GO:0071277)|cytokine-mediated signaling pathway (GO:0019221)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|G1/S transition of mitotic cell cycle (GO:0000082)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of sodium ion transmembrane transport (GO:1902306)|negative regulation of sodium ion transmembrane transporter activity (GO:2000650)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|protein autophosphorylation (GO:0046777)|protein oligomerization (GO:0051259)|protein phosphorylation (GO:0006468)|regulation of cardiac muscle cell action potential (GO:0098901)|regulation of cardiac muscle cell action potential involved in regulation of contraction (GO:0098909)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cell communication by electrical coupling (GO:0010649)|regulation of cell communication by electrical coupling involved in cardiac conduction (GO:1901844)|regulation of cell growth (GO:0001558)|regulation of cellular localization (GO:0060341)|regulation of generation of L-type calcium current (GO:1902514)|regulation of heart contraction (GO:0008016)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of histone deacetylase activity (GO:1901725)|regulation of membrane depolarization (GO:0003254)|regulation of relaxation of cardiac muscle (GO:1901897)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of the force of heart contraction (GO:0002026)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|relaxation of cardiac muscle (GO:0055119)|synaptic transmission (GO:0007268)	axon initial segment (GO:0043194)|calcium channel complex (GO:0034704)|calcium- and calmodulin-dependent protein kinase complex (GO:0005954)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|intercalated disc (GO:0014704)|membrane (GO:0016020)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)	ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|calmodulin-dependent protein kinase activity (GO:0004683)|ion channel binding (GO:0044325)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activity (GO:0004674)|sodium channel inhibitor activity (GO:0019871)|titin binding (GO:0031432)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)	13		Ovarian(17;0.00369)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000271)		TCATGAAGTCGCACTAGAAAA	0.348																																						ENST00000454265.2																			0				breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)	13						c.(223-225)Cga>Tga		calcium/calmodulin-dependent protein kinase II delta							56	56	56					4																	114530360		2203	4298	6501	SO:0001587	stop_gained	817				interferon-gamma-mediated signaling pathway|regulation of cell growth|synaptic transmission	calcium- and calmodulin-dependent protein kinase complex|cytosol|endocytic vesicle membrane|nucleoplasm|plasma membrane	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity	g.chr4:114530360G>A	U50361	CCDS3703.1, CCDS3704.1, CCDS43263.1, CCDS47127.1, CCDS54797.1	4q26	2008-10-30	2008-10-30		ENSG00000145349	ENSG00000145349			1462	protein-coding gene	gene with protein product		607708	"calcium/calmodulin-dependent protein kinase (CaM kinase) II delta"	CAMKD			Standard	NM_001221		Approved		uc003ibi.3	Q13557	OTTHUMG00000132910	ENST00000342666.5:c.223C>T	4.37:g.114530360G>A	ENSP00000339740:p.Arg75*					CAMK2D_ENST00000429180.1_Nonsense_Mutation_p.R75*|CAMK2D_ENST00000511664.1_Nonsense_Mutation_p.R75*|CAMK2D_ENST00000508738.1_Nonsense_Mutation_p.R75*|CAMK2D_ENST00000342666.5_Nonsense_Mutation_p.R75*|CAMK2D_ENST00000379773.2_Nonsense_Mutation_p.R75*|CAMK2D_ENST00000394526.2_Nonsense_Mutation_p.R75*|CAMK2D_ENST00000394522.3_Nonsense_Mutation_p.R75*|CAMK2D_ENST00000505990.1_Nonsense_Mutation_p.R75*|CAMK2D_ENST00000515496.1_Nonsense_Mutation_p.R75*|CAMK2D_ENST00000418639.2_Nonsense_Mutation_p.R75*|CAMK2D_ENST00000514328.1_Nonsense_Mutation_p.R75*|CAMK2D_ENST00000394524.3_Nonsense_Mutation_p.R75*|CAMK2D_ENST00000296402.5_Nonsense_Mutation_p.R75*	p.R75*			Q13557	KCC2D_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000271)	4	1081	-		Ovarian(17;0.00369)|Hepatocellular(203;0.217)	75			Protein kinase.		A8MVS8|Q52PK4|Q59G21|Q8N553|Q9UGH6|Q9UQE9	Nonsense_Mutation	SNP	ENST00000342666.5	37	c.223C>T	CCDS3703.1	.	.	.	.	.	.	.	.	.	.	G	44	11.036930	0.99507	.	.	ENSG00000145349	ENST00000394524;ENST00000454265;ENST00000429180;ENST00000418639;ENST00000394526;ENST00000296402;ENST00000511664;ENST00000342666;ENST00000515496;ENST00000514328;ENST00000394522;ENST00000505990;ENST00000379773;ENST00000508738	.	.	.	5.32	1.88	0.25563	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.3782	0.66892	0.0:0.0:0.6654:0.3346	.	.	.	.	X	75	.	ENSP00000296402:R75X	R	-	1	2	CAMK2D	114749809	0.998000	0.40836	0.998000	0.56505	0.907000	0.53573	1.530000	0.36007	0.465000	0.27167	0.591000	0.81541	CGA		0.348	CAMK2D-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256420.2			18	37	0	0	0	1	0	18	37					A	114530360	G	A	114530360	4	1	435	1	0	0	0	0	0	1	0	0	2601	1095	38	1	1431	1	CAMK2D	4	114530360	Nonsense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	106254	114530360	76623916	2428	23353											
NDST4	64579	broad.mit.edu	37	chr4	115997287	115997287	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tcaatgtccacaaggatgtaCctgtccaaggacaatgtcag	13	9	9	10	0	2	0	2	0	0	0	4	2	4	2	3	2	1	1	3	2	5	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:115997287C>T	ENST00000264363.2	-	2	1584	c.906G>A	c.(904-906)agG>agA	p.R302R		NM_022569.1	NP_072091.1	Q9H3R1	NDST4_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4	302	Heparan sulfate N-deacetylase 4.				heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparin biosynthetic process (GO:0030210)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine N-sulfotransferase activity (GO:0015016)|deacetylase activity (GO:0019213)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	81		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000562)		CAAGGATGTACCTGTCCAAGG	0.403																																						ENST00000264363.2																			0				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	81						c.(904-906)agG>agA		N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4							148	130	136					4																	115997287		2203	4300	6503	SO:0001819	synonymous_variant	64579					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity	g.chr4:115997287C>T	AB036429	CCDS3706.1	4q26	2008-02-05			ENSG00000138653	ENSG00000138653		"Sulfotransferases, membrane-bound"	20779	protein-coding gene	gene with protein product		615039				11087757	Standard	NM_022569		Approved		uc003ibu.3	Q9H3R1	OTTHUMG00000132916	ENST00000264363.2:c.906G>A	4.37:g.115997287C>T							p.R302R	NM_022569.1	NP_072091.1	Q9H3R1	NDST4_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000562)	2	1584	-		Ovarian(17;0.156)	302			Heparan sulfate N-deacetylase 4.		Q2KHM8	Silent	SNP	ENST00000264363.2	37	c.906G>A	CCDS3706.1																																																																																				0.403	NDST4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256427.1	NM_022569		24	48	0	0	0	1	0	24	48					T	115997287	C	T	115997287	2	4	435	1	0	0	0	0	0	0	0	1	10258	506	18	3		3	NDST4	4	115997287	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	1466927	115997287	75156989	2429	23354											
NDST4	64579	broad.mit.edu	37	chr4	115997414	115997414	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaattccatcatgaagccccAgatcctgaatcaccgttgca	12	9	7	13	1	2	3	2	2	0	1	4	4	4	3	5	0	2	2	5	0	3	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:115997414A>G	ENST00000264363.2	-	2	1457	c.779T>C	c.(778-780)cTg>cCg	p.L260P		NM_022569.1	NP_072091.1	Q9H3R1	NDST4_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4	260	Heparan sulfate N-deacetylase 4.				heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparin biosynthetic process (GO:0030210)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine N-sulfotransferase activity (GO:0015016)|deacetylase activity (GO:0019213)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	81		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000562)		ATGAAGCCCCAGATCCTGAAT	0.433																																						ENST00000264363.2																			0				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	81						c.(778-780)cTg>cCg		N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4							168	159	162					4																	115997414		2203	4300	6503	SO:0001583	missense	64579					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity	g.chr4:115997414A>G	AB036429	CCDS3706.1	4q26	2008-02-05			ENSG00000138653	ENSG00000138653		"Sulfotransferases, membrane-bound"	20779	protein-coding gene	gene with protein product		615039				11087757	Standard	NM_022569		Approved		uc003ibu.3	Q9H3R1	OTTHUMG00000132916	ENST00000264363.2:c.779T>C	4.37:g.115997414A>G	ENSP00000264363:p.Leu260Pro						p.L260P	NM_022569.1	NP_072091.1	Q9H3R1	NDST4_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000562)	2	1457	-		Ovarian(17;0.156)	260			Heparan sulfate N-deacetylase 4.		Q2KHM8	Missense_Mutation	SNP	ENST00000264363.2	37	c.779T>C	CCDS3706.1	.	.	.	.	.	.	.	.	.	.	A	18.77	3.694905	0.68386	.	.	ENSG00000138653	ENST00000264363	T	0.38240	1.15	5.57	5.57	0.84162	.	0.128125	0.53938	D	0.000051	T	0.50922	0.1644	M	0.81239	2.535	0.80722	D	1	B	0.32893	0.389	B	0.42959	0.403	T	0.50448	-0.8827	10	0.34782	T	0.22	.	15.7319	0.77814	1.0:0.0:0.0:0.0	.	260	Q9H3R1	NDST4_HUMAN	P	260	ENSP00000264363:L260P	ENSP00000264363:L260P	L	-	2	0	NDST4	116216863	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	9.281000	0.95811	2.109000	0.64355	0.482000	0.46254	CTG		0.433	NDST4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256427.1	NM_022569		39	76	0	0	0	1	0	39	76					G	115997414	A	G	115997414	3	3	435	1	0	0	0	0	1	0	0	0	10258	188	7	4	1891	4	NDST4	4	115997414	Missense_Mutation	SNP	A	TCGA-XK-AAIW-01A-11D-A41K-08	127	115997414	75156862	2430	23355											
TRAM1L1	133022	broad.mit.edu	37	chr4	118005506	118005506	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaagtttccactcccactccGttttctgttctttttttaga	6	19	5	11	1	2	1	0	0	2	1	5	2	5	1	3	0	0	3	3	0	2	8			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:118005506G>A	ENST00000310754.4	-	1	1230	c.1044C>T	c.(1042-1044)aaC>aaT	p.N348N		NM_152402.2	NP_689615.2	Q8N609	TR1L1_HUMAN	translocation associated membrane protein 1-like 1	348					protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22						CTCCCACTCCGTTTTCTGTTC	0.393																																						ENST00000310754.4																			0				central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22						c.(1042-1044)aaC>aaT		translocation associated membrane protein 1-like 1							158	163	162					4																	118005506		2203	4300	6503	SO:0001819	synonymous_variant	133022				protein transport|transmembrane transport	endoplasmic reticulum membrane|integral to membrane		g.chr4:118005506G>A	AK074617	CCDS3707.1	4q26	2008-02-05			ENSG00000174599	ENSG00000174599			28371	protein-coding gene	gene with protein product						12477932	Standard	NM_152402		Approved	MGC26568	uc003ibv.4	Q8N609	OTTHUMG00000132956	ENST00000310754.4:c.1044C>T	4.37:g.118005506G>A							p.N348N	NM_152402.2	NP_689615.2	Q8N609	TR1L1_HUMAN			1	1230	-			348					Q8N2L7	Silent	SNP	ENST00000310754.4	37	c.1044C>T	CCDS3707.1																																																																																				0.393	TRAM1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256513.1	NM_152402		6	196	0	0	0	1	0	6	196					A	118005506	G	A	118005506	2	1	435	1	0	0	0	0	0	0	0	1	16449	1136	40	1		1	TRAM1L1	4	118005506	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	2008092	118005506	73148770	2431	23356											
PRSS12	8492	broad.mit.edu	37	chr4	119204124	119204124	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccttgtaatctaaccagggCtatgtcataatcactgcggt	10	13	8	10	1	3	0	2	0	1	0	4	0	4	0	2	2	2	2	2	2	4	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:119204124C>A	ENST00000296498.3	-	12	2464	c.2182G>T	c.(2182-2184)Gcc>Tcc	p.A728S	PRSS12_ENST00000510903.1_5'UTR	NM_003619.3	NP_003610.2	P56730	NETR_HUMAN	protease, serine, 12 (neurotrypsin, motopsin)	728	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				exocytosis (GO:0006887)|zymogen activation (GO:0031638)	axon (GO:0030424)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|extracellular region (GO:0005576)|plasma membrane (GO:0005886)|synaptic cleft (GO:0043083)|terminal bouton (GO:0043195)	scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			endometrium(3)|kidney(1)|large_intestine(9)|lung(11)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	29						CTAACCAGGGCTATGTCATAA	0.468																																						ENST00000296498.3																			0				endometrium(3)|kidney(1)|large_intestine(9)|lung(11)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	29						c.(2182-2184)Gcc>Tcc		protease, serine, 12 (neurotrypsin, motopsin)							205	204	204					4																	119204124		2203	4300	6503	SO:0001583	missense	8492					membrane	scavenger receptor activity	g.chr4:119204124C>A	AJ001531	CCDS3709.1	4q25-q26	2010-05-07			ENSG00000164099	ENSG00000164099		"Serine peptidases / Serine peptidases"	9477	protein-coding gene	gene with protein product		606709				9540828, 9245503	Standard	NM_003619		Approved	BSSP-3, MRT1	uc003ica.2	P56730	OTTHUMG00000161166	ENST00000296498.3:c.2182G>T	4.37:g.119204124C>A	ENSP00000296498:p.Ala728Ser					PRSS12_ENST00000510903.1_5'UTR	p.A728S	NM_003619.3	NP_003610.2	P56730	NETR_HUMAN			12	2464	-			728			Peptidase S1.		Q9UP16	Missense_Mutation	SNP	ENST00000296498.3	37	c.2182G>T	CCDS3709.1	.	.	.	.	.	.	.	.	.	.	C	35	5.513981	0.96402	.	.	ENSG00000164099	ENST00000296498	D	0.97870	-4.58	5.88	5.88	0.94601	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.85682	D	0.000000	D	0.98501	0.9500	M	0.64676	1.99	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.99445	1.0939	10	0.72032	D	0.01	.	20.2314	0.98350	0.0:1.0:0.0:0.0	.	728	P56730	NETR_HUMAN	S	728	ENSP00000296498:A728S	ENSP00000296498:A728S	A	-	1	0	PRSS12	119423572	1.000000	0.71417	0.983000	0.44433	0.980000	0.70556	7.294000	0.78760	2.789000	0.95967	0.591000	0.81541	GCC		0.468	PRSS12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256516.2			57	83	1	0	1.67886e-27	1	1.87797e-27	57	83					A	119204124	C	A	119204124	3	1	435	1	0	0	0	0	1	0	0	0	12615	797	28	5	453	5	PRSS12	4	119204124	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	1198618	119204124	71950152	2432	23357											
PRSS12	8492	broad.mit.edu	37	chr4	119234369	119234369	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctcacccagagagagcctGtgtccctcgccgccagggta	7	7	11	16	2	1	2	1	0	0	2	4	3	3	2	6	1	1	1	6	1	1	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:119234369G>A	ENST00000296498.3	-	7	1758	c.1476C>T	c.(1474-1476)caC>caT	p.H492H		NM_003619.3	NP_003610.2	P56730	NETR_HUMAN	protease, serine, 12 (neurotrypsin, motopsin)	492					exocytosis (GO:0006887)|zymogen activation (GO:0031638)	axon (GO:0030424)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|extracellular region (GO:0005576)|plasma membrane (GO:0005886)|synaptic cleft (GO:0043083)|terminal bouton (GO:0043195)	scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			endometrium(3)|kidney(1)|large_intestine(9)|lung(11)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	29						GAGAGAGCCTGTGTCCCTCGC	0.532																																						ENST00000296498.3																			0				endometrium(3)|kidney(1)|large_intestine(9)|lung(11)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	29						c.(1474-1476)caC>caT		protease, serine, 12 (neurotrypsin, motopsin)							63	53	57					4																	119234369		2203	4300	6503	SO:0001819	synonymous_variant	8492					membrane	scavenger receptor activity	g.chr4:119234369G>A	AJ001531	CCDS3709.1	4q25-q26	2010-05-07			ENSG00000164099	ENSG00000164099		"Serine peptidases / Serine peptidases"	9477	protein-coding gene	gene with protein product		606709				9540828, 9245503	Standard	NM_003619		Approved	BSSP-3, MRT1	uc003ica.2	P56730	OTTHUMG00000161166	ENST00000296498.3:c.1476C>T	4.37:g.119234369G>A							p.H492H	NM_003619.3	NP_003610.2	P56730	NETR_HUMAN			7	1758	-			492					Q9UP16	Silent	SNP	ENST00000296498.3	37	c.1476C>T	CCDS3709.1																																																																																				0.532	PRSS12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256516.2			9	11	0	0	0	1	0	9	11					A	119234369	G	A	119234369	2	1	435	1	0	0	0	0	0	0	0	1	12615	1368	48	3		3	PRSS12	4	119234369	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	30245	119234369	71919907	2433	23358											
PDE5A	8654	broad.mit.edu	37	chr4	120442131	120442131	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agcagcaaacatgcactgagCtgtattaaaggcatgtctcc	13	9	9	10	0	1	1	0	1	1	0	2	1	1	1	1	1	5	6	1	1	4	2	rs199541416		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:120442131C>T	ENST00000354960.3	-	13	2183	c.1864G>A	c.(1864-1866)Gct>Act	p.A622T	PDE5A_ENST00000512739.1_5'Flank|RP11-33B1.1_ENST00000498873.1_RNA|PDE5A_ENST00000264805.5_Missense_Mutation_p.A580T|PDE5A_ENST00000394439.1_Missense_Mutation_p.A570T	NM_001083.3	NP_001074.2	O76074	PDE5A_HUMAN	phosphodiesterase 5A, cGMP-specific	622	Catalytic. {ECO:0000250}.				blood coagulation (GO:0007596)|cGMP catabolic process (GO:0046069)|negative regulation of cardiac muscle contraction (GO:0055118)|negative regulation of T cell proliferation (GO:0042130)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of oocyte development (GO:0060282)|relaxation of cardiac muscle (GO:0055119)|signal transduction (GO:0007165)	cytosol (GO:0005829)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|cGMP binding (GO:0030553)|metal ion binding (GO:0046872)			breast(4)|endometrium(2)|kidney(3)|large_intestine(8)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	27					Avanafil(DB06237)|Caffeine(DB00201)|Dipyridamole(DB00975)|Pentoxifylline(DB00806)|Sildenafil(DB00203)|Tadalafil(DB00820)|Theophylline(DB00277)|Udenafil(DB06267)|Vardenafil(DB00862)	ATGCACTGAGCTGTATTAAAG	0.328																																						ENST00000354960.3																			0				breast(4)|endometrium(2)|kidney(3)|large_intestine(8)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	27						c.(1864-1866)Gct>Act		phosphodiesterase 5A, cGMP-specific	Dipyridamole(DB00975)|Pentoxifylline(DB00806)|Sildenafil(DB00203)|Tadalafil(DB00820)|Theophylline(DB00277)|Vardenafil(DB00862)						138	140	139					4																	120442131		2202	4300	6502	SO:0001583	missense	8654				platelet activation|signal transduction	cytosol	3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|zinc ion binding	g.chr4:120442131C>T	D89094	CCDS3713.1, CCDS34055.1	4q27	2008-05-15			ENSG00000138735	ENSG00000138735	3.1.4.17	"Phosphodiesterases"	8784	protein-coding gene	gene with protein product		603310				9714779, 9642111	Standard	NM_033437		Approved		uc003idh.3	O76074	OTTHUMG00000132971	ENST00000354960.3:c.1864G>A	4.37:g.120442131C>T	ENSP00000347046:p.Ala622Thr					RP11-33B1.1_ENST00000498873.1_RNA|PDE5A_ENST00000394439.1_Missense_Mutation_p.A570T|PDE5A_ENST00000264805.5_Missense_Mutation_p.A580T	p.A622T	NM_001083.3	NP_001074.2	O76074	PDE5A_HUMAN			13	2183	-			622			Catalytic (By similarity).		A0AV69|A8K2C4|O75026|O75887|Q86UI0|Q86V66|Q9Y6Z6	Missense_Mutation	SNP	ENST00000354960.3	37	c.1864G>A	CCDS3713.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.129329	0.77549	.	.	ENSG00000138735	ENST00000354960;ENST00000394439;ENST00000264805	T;T;T	0.79940	-1.32;-1.32;-1.32	5.93	5.93	0.95920	Metal-dependent phosphohydrolase, HD domain (1);5&apos (2);-cyclic nucleotide phosphodiesterase, catalytic domain (2);3&apos (2);	0.095616	0.64402	N	0.000001	T	0.73613	0.3609	N	0.16790	0.44	0.80722	D	1	P;P	0.38535	0.484;0.635	B;B	0.40702	0.338;0.134	T	0.72676	-0.4221	10	0.37606	T	0.19	.	20.3368	0.98748	0.0:1.0:0.0:0.0	.	622;580	O76074;O76074-2	PDE5A_HUMAN;.	T	622;570;580	ENSP00000347046:A622T;ENSP00000377957:A570T;ENSP00000264805:A580T	ENSP00000264805:A580T	A	-	1	0	PDE5A	120661579	1.000000	0.71417	0.990000	0.47175	0.983000	0.72400	5.950000	0.70265	2.805000	0.96524	0.655000	0.94253	GCT		0.328	PDE5A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256529.1	NM_001083		8	92	0	0	0	1	0	8	92					T	120442131	C	T	120442131	3	4	435	1	0	0	0	0	1	0	0	0	11644	797	28	3	799	3	PDE5A	4	120442131	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	1207762	120442131	70712145	2434	23359											
PRDM5	11107	broad.mit.edu	37	chr4	121774625	121774625	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atggtgcctcatgaacgaagCgaagccagttggagtgccgt	10	8	14	9	3	1	1	1	1	0	0	1	4	1	2	3	2	5	1	3	2	3	1	rs201945549		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:121774625C>T	ENST00000264808.3	-	3	488	c.248G>A	c.(247-249)cGc>cAc	p.R83H	PRDM5_ENST00000394435.2_Missense_Mutation_p.R83H|PRDM5_ENST00000428209.2_Missense_Mutation_p.R83H|PRDM5_ENST00000515109.1_Missense_Mutation_p.R83H	NM_018699.2	NP_061169.2	Q9NQX1	PRDM5_HUMAN	PR domain containing 5	83	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				histone deacetylation (GO:0016575)|histone H3-K9 methylation (GO:0051567)|mitotic cell cycle (GO:0000278)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)|repressing transcription factor binding (GO:0070491)|sequence-specific DNA binding (GO:0043565)|transcription regulatory region DNA binding (GO:0044212)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(17)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						ATGAACGAAGCGAAGCCAGTT	0.473													C|||	1	0.000199681	0	0	5008	,	,		19822	0		0.001	False		,,,				2504	0					ENST00000264808.3																			0				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(17)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						c.(247-249)cGc>cAc		PR domain containing 5		C	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	304	302	303		248	5.5	1	4		303	1,8599	1.2+/-3.3	0,1,4299	no	missense	PRDM5	NM_018699.2	29	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	probably-damaging	83/631	121774625	2,13004	2203	4300	6503	SO:0001583	missense	11107				histone deacetylation|histone H3-K9 methylation|mitotic cell cycle|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	repressing transcription factor binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding	g.chr4:121774625C>T	AF272897	CCDS3716.1, CCDS75187.1, CCDS75188.1	4q25-q26	2013-01-08			ENSG00000138738	ENSG00000138738		"Zinc fingers, C2H2-type"	9349	protein-coding gene	gene with protein product		614161					Standard	XM_005262706		Approved	PFM2	uc003idn.3	Q9NQX1	OTTHUMG00000132970	ENST00000264808.3:c.248G>A	4.37:g.121774625C>T	ENSP00000264808:p.Arg83His					PRDM5_ENST00000394435.2_Missense_Mutation_p.R83H|PRDM5_ENST00000515109.1_Missense_Mutation_p.R83H|PRDM5_ENST00000428209.2_Missense_Mutation_p.R83H	p.R83H	NM_018699.2	NP_061169.2	Q9NQX1	PRDM5_HUMAN			3	488	-			83			SET.		Q0VAI9|Q0VAJ0|Q6NXQ7	Missense_Mutation	SNP	ENST00000264808.3	37	c.248G>A	CCDS3716.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	36	5.760907	0.96906	2.27E-4	1.16E-4	ENSG00000138738	ENST00000264808;ENST00000515109;ENST00000428209;ENST00000394435	T;T;T;T	0.76448	-1.02;-1.02;-1.02;-1.02	5.52	5.52	0.82312	SET domain (2);	0.000000	0.85682	D	0.000000	D	0.89097	0.6618	M	0.82923	2.615	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;0.998;1.0	D;D;P;D	0.83275	0.991;0.996;0.855;0.991	D	0.88684	0.3204	10	0.46703	T	0.11	-13.6783	18.5703	0.91133	0.0:1.0:0.0:0.0	.	83;83;83;83	Q0VAI9;Q9NQX1-3;Q9NQX1-2;Q9NQX1	.;.;.;PRDM5_HUMAN	H	83	ENSP00000264808:R83H;ENSP00000422309:R83H;ENSP00000404832:R83H;ENSP00000377955:R83H	ENSP00000264808:R83H	R	-	2	0	PRDM5	121994075	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.998000	0.76277	2.751000	0.94390	0.650000	0.86243	CGC		0.473	PRDM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256528.2			112	165	0	0	0	1	0	112	165					T	121774625	C	T	121774625	3	4	435	1	0	0	0	0	1	0	0	0	12460	768	27	1	1700	1	PRDM5	4	121774625	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	1332494	121774625	69379651	2435	23360											
C4orf31	79625	broad.mit.edu	37	chr4	121958203	121958203	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atacatcaaagtagtactgcGtgtcgggtttcagatcagag	12	11	11	7	2	3	2	3	0	0	2	4	2	3	2	0	1	3	3	0	1	4	4	rs143991157		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:121958203G>A	ENST00000379692.4	-	4	1449	c.923C>T	c.(922-924)aCg>aTg	p.T308M	NDNF_ENST00000506900.1_5'Flank	NM_024574.3	NP_078850.3	Q8TB73	NDNF_HUMAN	neuron-derived neurotrophic factor	308	Fibronectin type-III 1.				cell growth (GO:0016049)|extracellular matrix organization (GO:0030198)|negative regulation of neuron apoptotic process (GO:0043524)|neuron migration (GO:0001764)|peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of neuron projection development (GO:0010976)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	glycosaminoglycan binding (GO:0005539)|heparin binding (GO:0008201)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(3)|skin(1)|urinary_tract(1)	29						GTAGTACTGCGTGTCGGGTTT	0.458																																						ENST00000379692.4																			0				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(3)|skin(1)|urinary_tract(1)	29						c.(922-924)aCg>aTg		neuron-derived neurotrophic factor							149	133	139					4																	121958203		2203	4300	6503	SO:0001583	missense	79625							g.chr4:121958203G>A	BC019351	CCDS3717.2	4q27	2011-07-05	2011-07-05	2011-07-05	ENSG00000173376	ENSG00000173376			26256	protein-coding gene	gene with protein product			"chromosome 4 open reading frame 31"	C4orf31		12975309, 20969804	Standard	NM_024574		Approved	FLJ23191	uc003idq.1	Q8TB73	OTTHUMG00000132973	ENST00000379692.4:c.923C>T	4.37:g.121958203G>A	ENSP00000369014:p.Thr308Met						p.T308M	NM_024574.3	NP_078850.3	Q8TB73	CD031_HUMAN			4	1449	-			308			Fibronectin type-III 1.		A8K0Q0|Q6UWE5|Q9H5P7	Missense_Mutation	SNP	ENST00000379692.4	37	c.923C>T	CCDS3717.2	.	.	.	.	.	.	.	.	.	.	G	15.66	2.900231	0.52227	.	.	ENSG00000173376	ENST00000379692	T	0.61158	0.13	5.88	5.04	0.67666	.	0.042495	0.85682	D	0.000000	T	0.48150	0.1484	L	0.45137	1.4	0.80722	D	1	P	0.43826	0.818	B	0.35114	0.196	T	0.56926	-0.7898	10	0.66056	D	0.02	-21.9663	15.3175	0.74092	0.0677:0.0:0.9323:0.0	.	308	Q8TB73	NDNF_HUMAN	M	308	ENSP00000369014:T308M	ENSP00000369014:T308M	T	-	2	0	NDNF	122177653	1.000000	0.71417	0.851000	0.33527	0.970000	0.65996	5.788000	0.69020	2.774000	0.95407	0.655000	0.94253	ACG		0.458	NDNF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256532.2	NM_024574		12	62	0	0	0	1	0	12	62					A	121958203	G	A	121958203	3	1	435	1	0	0	0	0	1	0	0	0	2261	1145	40	1	787	1	C4orf31	4	121958203	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	183578	121958203	69196073	2436	23361											
ANXA5	308	broad.mit.edu	37	chr4	122599624	122599624	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgaagtgtcccccaccacGtcatcttccaggcttgagcc	7	9	8	17	1	2	2	1	2	1	0	4	2	4	2	6	1	1	1	6	1	1	2	rs202083195		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:122599624G>A	ENST00000296511.5	-	7	705	c.420C>T	c.(418-420)gaC>gaT	p.D140D	ANXA5_ENST00000509016.1_5'UTR|ANXA5_ENST00000515017.1_Silent_p.D40D|ANXA5_ENST00000501272.2_Silent_p.D80D	NM_001154.3	NP_001145.1	P08758	ANXA5_HUMAN	annexin A5	140					blood coagulation (GO:0007596)|negative regulation of apoptotic process (GO:0043066)|negative regulation of catalytic activity (GO:0043086)|negative regulation of coagulation (GO:0050819)|response to organic substance (GO:0010033)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|endothelial microparticle (GO:0072563)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|intracellular (GO:0005622)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|phospholipase inhibitor activity (GO:0004859)|phospholipid binding (GO:0005543)			NS(1)|breast(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)	15						CCCCCACCACGTCATCTTCCA	0.393																																					Pancreas(191;1279 2147 16046 17806 52646)|GBM(88;628 1285 16585 32846 50188)	ENST00000296511.5																			0				NS(1)|breast(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)	15						c.(418-420)gaC>gaT		annexin A5							95	93	94					4																	122599624		2203	4300	6503	SO:0001819	synonymous_variant	308				anti-apoptosis|blood coagulation|negative regulation of coagulation|signal transduction	cytoplasm	calcium ion binding|calcium-dependent phospholipid binding|phospholipase inhibitor activity	g.chr4:122599624G>A	U05770	CCDS3720.1	4q27	2008-02-05			ENSG00000164111	ENSG00000164111		"Annexins"	543	protein-coding gene	gene with protein product		131230		ENX2, ANX5		2960376	Standard	NM_001154		Approved		uc003idv.4	P08758	OTTHUMG00000133034	ENST00000296511.5:c.420C>T	4.37:g.122599624G>A						ANXA5_ENST00000509016.1_5'UTR|ANXA5_ENST00000501272.2_Silent_p.D80D|ANXA5_ENST00000515017.1_Silent_p.D40D	p.D140D	NM_001154.3	NP_001145.1	P08758	ANXA5_HUMAN			7	705	-			140					D3DNW7|Q6FHB3|Q6FI16|Q8WV69|Q9UDH9	Silent	SNP	ENST00000296511.5	37	c.420C>T	CCDS3720.1																																																																																				0.393	ANXA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256636.2	NM_001154		5	24	0	0	0	1	0	5	24					A	122599624	G	A	122599624	2	1	435	1	0	0	0	0	0	0	0	1	721	1136	40	1		1	ANXA5	4	122599624	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	641421	122599624	68554652	2437	23362											
EXOSC9	5393	broad.mit.edu	37	chr4	122723045	122723045	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tctcatttggaacagattacGgatgctgcattgtggaactt	10	14	10	7	1	1	1	1	0	1	1	2	4	1	4	0	3	5	2	0	3	3	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:122723045G>A	ENST00000243498.5	+	2	238	c.130G>A	c.(130-132)Gga>Aga	p.G44R	EXOSC9_ENST00000509980.1_3'UTR|EXOSC9_ENST00000379663.3_Missense_Mutation_p.G44R|EXOSC9_ENST00000512454.1_Missense_Mutation_p.G28R	NM_005033.2	NP_005024.2	Q06265	EXOS9_HUMAN	exosome component 9	44	ARE binding.				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|immune response (GO:0006955)|mRNA metabolic process (GO:0016071)|nuclear mRNA surveillance (GO:0071028)|nuclear polyadenylation-dependent rRNA catabolic process (GO:0071035)|nuclear-transcribed mRNA catabolic process (GO:0000956)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|positive regulation of cell growth (GO:0030307)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|exosome (RNase complex) (GO:0000178)|intermediate filament cytoskeleton (GO:0045111)|nuclear exosome (RNase complex) (GO:0000176)|nucleolus (GO:0005730)|nucleus (GO:0005634)	3'-5'-exoribonuclease activity (GO:0000175)|AU-rich element binding (GO:0017091)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(4)|urinary_tract(1)	16						AACAGATTACGGATGCTGCAT	0.373																																						ENST00000512454.1																			0				cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(4)|urinary_tract(1)	16						c.(82-84)Gga>Aga		exosome component 9							115	103	107					4																	122723045		2203	4300	6503	SO:0001583	missense	5393				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|immune response|nuclear mRNA surveillance|nuclear polyadenylation-dependent rRNA catabolic process|positive regulation of cell growth|rRNA processing	cytosol|nuclear exosome (RNase complex)|nucleolus|nucleus	3'-5'-exoribonuclease activity|AU-rich element binding|protein binding	g.chr4:122723045G>A	M58460	CCDS3722.2, CCDS34057.1	4q27	2010-05-07	2004-06-16	2004-06-18	ENSG00000123737	ENSG00000123737	3.1.13.-		9137	protein-coding gene	gene with protein product	"polymyositis/scleroderma autoantigen 1 (75kD)"	606180	"polymyositis/scleroderma autoantigen 1, 75kDa"	PMSCL1			Standard	XR_427545		Approved	PM/Scl-75, Rrp45p, RRP45, p5, p6	uc003idz.3	Q06265	OTTHUMG00000128783	ENST00000243498.5:c.130G>A	4.37:g.122723045G>A	ENSP00000243498:p.Gly44Arg					EXOSC9_ENST00000379663.3_Missense_Mutation_p.G44R|EXOSC9_ENST00000509980.1_3'UTR|EXOSC9_ENST00000243498.5_Missense_Mutation_p.G44R	p.G28R			Q06265	EXOS9_HUMAN			1	298	+			44			ARE binding.		Q12883|Q4W5P5|Q86Y41|Q86Y48	Missense_Mutation	SNP	ENST00000243498.5	37	c.82G>A	CCDS3722.2	.	.	.	.	.	.	.	.	.	.	G	33	5.264210	0.95399	.	.	ENSG00000123737	ENST00000243498;ENST00000379663;ENST00000509800;ENST00000512454	D;D;D;D	0.88741	-2.42;-2.42;-2.42;-2.42	5.61	5.61	0.85477	Ribosomal protein S5 domain 2-type fold (1);Exoribonuclease, phosphorolytic domain 1 (1);	0.000000	0.85682	D	0.000000	D	0.96210	0.8764	M	0.93328	3.405	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;0.996	D	0.96869	0.9638	10	0.87932	D	0	-21.1514	19.2597	0.93962	0.0:0.0:1.0:0.0	.	28;44;44	D6RIY6;Q06265;Q06265-2	.;EXOS9_HUMAN;.	R	44;44;44;28	ENSP00000243498:G44R;ENSP00000368984:G44R;ENSP00000422205:G44R;ENSP00000425782:G28R	ENSP00000243498:G44R	G	+	1	0	EXOSC9	122942495	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	8.608000	0.90895	2.638000	0.89438	0.650000	0.86243	GGA		0.373	EXOSC9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250708.2	NM_005033		38	53	0	0	0	1	0	38	53					A	122723045	G	A	122723045	3	1	435	1	0	0	0	0	1	0	0	0	5321	1117	39	2	136	2	EXOSC9	4	122723045	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	123421	122723045	68431231	2438	23363											
TRPC3	7222	broad.mit.edu	37	chr4	122825550	122825550	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cgaccaccatagttacattgTatattccataaagaacgtat	15	12	5	9	2	0	1	0	0	0	1	1	2	1	1	3	0	2	3	3	0	8	8			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:122825550T>C	ENST00000379645.3	-	8	2253	c.2180A>G	c.(2179-2181)tAc>tGc	p.Y727C	TRPC3_ENST00000513531.1_Missense_Mutation_p.Y599C|TRPC3_ENST00000264811.5_Missense_Mutation_p.Y654C	NM_001130698.1	NP_001124170.1	Q13507	TRPC3_HUMAN	transient receptor potential cation channel, subfamily C, member 3	642					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|phototransduction (GO:0007602)|platelet activation (GO:0030168)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of cardiac muscle hypertrophy in response to stress (GO:1903244)|response to ATP (GO:0033198)|response to calcium ion (GO:0051592)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|inositol 1,4,5 trisphosphate binding (GO:0070679)|store-operated calcium channel activity (GO:0015279)			NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(12)|lung(13)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						AGTTACATTGTATATTCCATA	0.318																																						ENST00000264811.5																			0				NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(12)|lung(13)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						c.(1960-1962)tAc>tGc		transient receptor potential cation channel, subfamily C, member 3							96	92	93					4																	122825550		2203	4299	6502	SO:0001583	missense	7222				axon guidance|phototransduction|platelet activation	integral to plasma membrane	protein binding|store-operated calcium channel activity	g.chr4:122825550T>C	Y13758	CCDS3725.1, CCDS47130.1	4q27	2011-12-14			ENSG00000138741	ENSG00000138741		"Voltage-gated ion channels / Transient receptor potential cation channels"	12335	protein-coding gene	gene with protein product		602345				8646775, 16382100	Standard	NM_003305		Approved		uc003ieg.2	Q13507	OTTHUMG00000133069	ENST00000379645.3:c.2180A>G	4.37:g.122825550T>C	ENSP00000368966:p.Tyr727Cys					TRPC3_ENST00000379645.3_Missense_Mutation_p.Y727C|TRPC3_ENST00000513531.1_Missense_Mutation_p.Y599C	p.Y654C	NM_003305.2	NP_003296.1	Q13507	TRPC3_HUMAN			7	2379	-			642					A7VJS1|E9PCJ9|O00593|Q15660|Q52M35|Q5G1L5	Missense_Mutation	SNP	ENST00000379645.3	37	c.1961A>G	CCDS47130.1	.	.	.	.	.	.	.	.	.	.	T	22.6	4.313413	0.81358	.	.	ENSG00000138741	ENST00000264811;ENST00000379645;ENST00000513531	D;D;D	0.98701	-5.08;-5.08;-5.08	5.52	5.52	0.82312	Ion transport (1);	0.000000	0.64402	D	0.000001	D	0.99378	0.9781	H	0.94582	3.555	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.98652	1.0680	10	0.87932	D	0	-3.0376	15.9239	0.79597	0.0:0.0:0.0:1.0	.	642;599;727	Q13507;E9PCJ9;Q5G1L5	TRPC3_HUMAN;.;.	C	654;727;599	ENSP00000264811:Y654C;ENSP00000368966:Y727C;ENSP00000426899:Y599C	ENSP00000264811:Y654C	Y	-	2	0	TRPC3	123045000	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.902000	0.87389	2.207000	0.71202	0.533000	0.62120	TAC		0.318	TRPC3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364252.1	NM_003305		34	122	0	0	0	1	0	34	122					C	122825550	T	C	122825550	3	2	435	1	0	0	0	0	1	0	0	0	16576	1638	57	4	605	4	TRPC3	4	122825550	Missense_Mutation	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	102505	122825550	68328726	2439	23364											
TRPC3	7222	broad.mit.edu	37	chr4	122828495	122828495	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aactttagccccaaggtagtAagaataaagtatgaacatgc	17	9	8	7	0	0	2	0	1	0	1	0	2	0	2	2	1	4	3	2	1	10	6			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:122828495A>G	ENST00000379645.3	-	7	2093	c.2020T>C	c.(2020-2022)Tac>Cac	p.Y674H	TRPC3_ENST00000513531.1_Missense_Mutation_p.Y546H|TRPC3_ENST00000264811.5_Missense_Mutation_p.Y601H	NM_001130698.1	NP_001124170.1	Q13507	TRPC3_HUMAN	transient receptor potential cation channel, subfamily C, member 3	589					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|phototransduction (GO:0007602)|platelet activation (GO:0030168)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of cardiac muscle hypertrophy in response to stress (GO:1903244)|response to ATP (GO:0033198)|response to calcium ion (GO:0051592)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|inositol 1,4,5 trisphosphate binding (GO:0070679)|store-operated calcium channel activity (GO:0015279)			NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(12)|lung(13)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						CCAAGGTAGTAAGAATAAAGT	0.343																																						ENST00000264811.5																			0				NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(12)|lung(13)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						c.(1801-1803)Tac>Cac		transient receptor potential cation channel, subfamily C, member 3							123	129	127					4																	122828495		2203	4299	6502	SO:0001583	missense	7222				axon guidance|phototransduction|platelet activation	integral to plasma membrane	protein binding|store-operated calcium channel activity	g.chr4:122828495A>G	Y13758	CCDS3725.1, CCDS47130.1	4q27	2011-12-14			ENSG00000138741	ENSG00000138741		"Voltage-gated ion channels / Transient receptor potential cation channels"	12335	protein-coding gene	gene with protein product		602345				8646775, 16382100	Standard	NM_003305		Approved		uc003ieg.2	Q13507	OTTHUMG00000133069	ENST00000379645.3:c.2020T>C	4.37:g.122828495A>G	ENSP00000368966:p.Tyr674His					TRPC3_ENST00000379645.3_Missense_Mutation_p.Y674H|TRPC3_ENST00000513531.1_Missense_Mutation_p.Y546H	p.Y601H	NM_003305.2	NP_003296.1	Q13507	TRPC3_HUMAN			6	2219	-			589					A7VJS1|E9PCJ9|O00593|Q15660|Q52M35|Q5G1L5	Missense_Mutation	SNP	ENST00000379645.3	37	c.1801T>C	CCDS47130.1	.	.	.	.	.	.	.	.	.	.	A	24.1	4.495731	0.85069	.	.	ENSG00000138741	ENST00000264811;ENST00000379645;ENST00000513531	D;D;D	0.98531	-4.98;-4.98;-4.98	5.5	5.5	0.81552	Ion transport (1);	0.000000	0.64402	D	0.000003	D	0.98735	0.9575	M	0.83852	2.665	0.58432	D	0.99999	P;P;P	0.49961	0.605;0.921;0.93	P;P;P	0.59357	0.599;0.856;0.819	D	0.99497	1.0952	10	0.62326	D	0.03	-7.369	15.6116	0.76727	1.0:0.0:0.0:0.0	.	589;546;674	Q13507;E9PCJ9;Q5G1L5	TRPC3_HUMAN;.;.	H	601;674;546	ENSP00000264811:Y601H;ENSP00000368966:Y674H;ENSP00000426899:Y546H	ENSP00000264811:Y601H	Y	-	1	0	TRPC3	123047945	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.351000	0.79395	2.079000	0.62486	0.533000	0.62120	TAC		0.343	TRPC3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364252.1	NM_003305		4	186	0	0	0	1	0	4	186					G	122828495	A	G	122828495	3	3	435	1	0	0	0	0	1	0	0	0	16576	362	13	4	769	4	TRPC3	4	122828495	Missense_Mutation	SNP	A	TCGA-XK-AAIW-01A-11D-A41K-08	2945	122828495	68325781	2440	23365											
TRPC3	7222	broad.mit.edu	37	chr4	122854099	122854099	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggcggtgaggctggtgccgCggtcattgaacatgaaggcc	7	7	17	10	4	1	3	1	3	0	0	1	3	1	3	2	6	2	1	2	6	2	1	rs200623780		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:122854099C>T	ENST00000379645.3	-	2	387	c.314G>A	c.(313-315)cGc>cAc	p.R105H	TRPC3_ENST00000513531.1_Missense_Mutation_p.R32H|TRPC3_ENST00000264811.5_Missense_Mutation_p.R32H	NM_001130698.1	NP_001124170.1	Q13507	TRPC3_HUMAN	transient receptor potential cation channel, subfamily C, member 3	20					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|phototransduction (GO:0007602)|platelet activation (GO:0030168)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of cardiac muscle hypertrophy in response to stress (GO:1903244)|response to ATP (GO:0033198)|response to calcium ion (GO:0051592)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|inositol 1,4,5 trisphosphate binding (GO:0070679)|store-operated calcium channel activity (GO:0015279)	p.R32H(1)		NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(12)|lung(13)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						GCTGGTGCCGCGGTCATTGAA	0.657																																						ENST00000264811.5																			1	Substitution - Missense(1)	p.R32H(1)	endometrium(1)	NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(12)|lung(13)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						c.(94-96)cGc>cAc		transient receptor potential cation channel, subfamily C, member 3		C	HIS/ARG,HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	33	34	34		95,314	5.9	0.8	4		34	0,8598		0,0,4299	no	missense,missense	TRPC3	NM_003305.2,NM_001130698.1	29,29	0,1,6501	TT,TC,CC		0.0,0.0227,0.0077	benign,benign	32/849,105/922	122854099	1,13003	2203	4299	6502	SO:0001583	missense	7222				axon guidance|phototransduction|platelet activation	integral to plasma membrane	protein binding|store-operated calcium channel activity	g.chr4:122854099C>T	Y13758	CCDS3725.1, CCDS47130.1	4q27	2011-12-14			ENSG00000138741	ENSG00000138741		"Voltage-gated ion channels / Transient receptor potential cation channels"	12335	protein-coding gene	gene with protein product		602345				8646775, 16382100	Standard	NM_003305		Approved		uc003ieg.2	Q13507	OTTHUMG00000133069	ENST00000379645.3:c.314G>A	4.37:g.122854099C>T	ENSP00000368966:p.Arg105His					TRPC3_ENST00000379645.3_Missense_Mutation_p.R105H|TRPC3_ENST00000513531.1_Missense_Mutation_p.R32H	p.R32H	NM_003305.2	NP_003296.1	Q13507	TRPC3_HUMAN			1	513	-			20					A7VJS1|E9PCJ9|O00593|Q15660|Q52M35|Q5G1L5	Missense_Mutation	SNP	ENST00000379645.3	37	c.95G>A	CCDS47130.1	.	.	.	.	.	.	.	.	.	.	C	15.06	2.721738	0.48728	2.27E-4	0.0	ENSG00000138741	ENST00000264811;ENST00000379645;ENST00000513531;ENST00000502968	T;T;T;D	0.86366	-0.73;-0.94;-0.9;-2.11	5.94	5.94	0.96194	.	0.192291	0.43110	D	0.000615	T	0.80476	0.4630	N	0.19112	0.55	0.58432	D	0.999999	B;B	0.14805	0.006;0.011	B;B	0.10450	0.004;0.005	T	0.72984	-0.4125	10	0.19147	T	0.46	-0.049	20.3736	0.98901	0.0:1.0:0.0:0.0	.	32;105	E9PCJ9;Q5G1L5	.;.	H	32;105;32;32	ENSP00000264811:R32H;ENSP00000368966:R105H;ENSP00000426899:R32H;ENSP00000422214:R32H	ENSP00000264811:R32H	R	-	2	0	TRPC3	123073549	1.000000	0.71417	0.769000	0.31535	0.445000	0.32107	4.002000	0.57053	2.820000	0.97059	0.650000	0.86243	CGC		0.657	TRPC3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364252.1	NM_003305		18	34	0	0	0	1	0	18	34					T	122854099	C	T	122854099	3	4	435	1	0	0	0	0	1	0	0	0	16576	768	27	1	2495	1	TRPC3	4	122854099	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	25604	122854099	68300177	2441	23366											
KIAA1109	84162	broad.mit.edu	37	chr4	123122202	123122202	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacccccgaatatggaacatGccgcagacatggcagtgtga	12	7	11	11	2	0	2	0	1	0	1	0	4	0	3	3	2	3	2	3	2	4	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:123122202G>A	ENST00000264501.4	+	15	1792	c.1419G>A	c.(1417-1419)atG>atA	p.M473I	KIAA1109_ENST00000388738.3_Missense_Mutation_p.M473I|KIAA1109_ENST00000495260.1_3'UTR|KIAA1109_ENST00000455637.1_Missense_Mutation_p.M473I			Q2LD37	K1109_HUMAN	KIAA1109	473					regulation of cell growth (GO:0001558)|regulation of epithelial cell differentiation (GO:0030856)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						TATGGAACATGCCGCAGACAT	0.373																																						ENST00000264501.4																			0				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						c.(1417-1419)atG>atA		KIAA1109							95	87	90					4																	123122202		1901	4134	6035	SO:0001583	missense	84162				regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus		g.chr4:123122202G>A	AL137384	CCDS43267.1	4q28.1	2012-07-09			ENSG00000138688	ENSG00000138688			26953	protein-coding gene	gene with protein product	"fragile site-associated"	611565				16386706	Standard	NM_015312		Approved	FLJ21404, FSA, KIAA1371, Tweek	uc003ieh.3	Q2LD37	OTTHUMG00000150116	ENST00000264501.4:c.1419G>A	4.37:g.123122202G>A	ENSP00000264501:p.Met473Ile					KIAA1109_ENST00000495260.1_3'UTR|KIAA1109_ENST00000455637.1_Missense_Mutation_p.M473I|KIAA1109_ENST00000388738.3_Missense_Mutation_p.M473I	p.M473I			Q2LD37	K1109_HUMAN			15	1792	+			473					Q4W598|Q5CZA9|Q6ZS70|Q6ZV75|Q86XA5|Q8WVD8|Q9H742|Q9NT48|Q9NTC3|Q9NTI4|Q9P2H6|Q9UPP3	Missense_Mutation	SNP	ENST00000264501.4	37	c.1419G>A	CCDS43267.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	32|32	5.138304|5.138304	0.94560|0.94560	.|.	.|.	ENSG00000138688|ENSG00000138688	ENST00000424425|ENST00000264501;ENST00000388738;ENST00000455637	.|D;D;D	.|0.93953	.|-3.32;-3.32;-3.32	5.93|5.93	5.93|5.93	0.95920|0.95920	.|.	.|3.488960	.|0.02214	.|U	.|0.063421	D|D	0.96178|0.96178	0.8754|0.8754	L|L	0.43152|0.43152	1.355|1.355	0.80722|0.80722	D|D	1|1	.|P	.|0.50528	.|0.936	.|P	.|0.61201	.|0.885	D|D	0.85515|0.85515	0.1200|0.1200	5|10	.|0.34782	.|T	.|0.22	.|.	20.3465|20.3465	0.98790|0.98790	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|473	.|Q2LD37	.|K1109_HUMAN	T|I	306|473	.|ENSP00000264501:M473I;ENSP00000373390:M473I;ENSP00000389925:M473I	.|ENSP00000264501:M473I	A|M	+|+	1|3	0|0	KIAA1109|KIAA1109	123341652|123341652	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	9.750000|9.750000	0.98875|0.98875	2.798000|2.798000	0.96311|0.96311	0.655000|0.655000	0.94253|0.94253	GCC|ATG		0.373	KIAA1109-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316415.1	NM_020797		22	24	0	0	0	1	0	22	24					A	123122202	G	A	123122202	3	1	435	1	0	0	0	0	1	0	0	0	8208	1319	46	3	1469	3	KIAA1109	4	123122202	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	268103	123122202	68032074	2442	23367											
KIAA1109	84162	broad.mit.edu	37	chr4	123227142	123227142	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggttcttcagatagggaagcTgtgcttattactttgaatag	10	15	11	5	0	2	2	1	1	1	1	2	3	2	3	0	2	3	3	0	2	6	7			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:123227142T>C	ENST00000264501.4	+	57	10156	c.9783T>C	c.(9781-9783)gcT>gcC	p.A3261A	KIAA1109_ENST00000388738.3_Silent_p.A3261A|KIAA1109_ENST00000455637.1_Silent_p.A3261A			Q2LD37	K1109_HUMAN	KIAA1109	3261					regulation of cell growth (GO:0001558)|regulation of epithelial cell differentiation (GO:0030856)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						ATAGGGAAGCTGTGCTTATTA	0.388																																						ENST00000264501.4																			0				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						c.(9781-9783)gcT>gcC		KIAA1109							148	144	145					4																	123227142		1848	4082	5930	SO:0001819	synonymous_variant	84162				regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus		g.chr4:123227142T>C	AL137384	CCDS43267.1	4q28.1	2012-07-09			ENSG00000138688	ENSG00000138688			26953	protein-coding gene	gene with protein product	"fragile site-associated"	611565				16386706	Standard	NM_015312		Approved	FLJ21404, FSA, KIAA1371, Tweek	uc003ieh.3	Q2LD37	OTTHUMG00000150116	ENST00000264501.4:c.9783T>C	4.37:g.123227142T>C						KIAA1109_ENST00000455637.1_Silent_p.A3261A|KIAA1109_ENST00000388738.3_Silent_p.A3261A	p.A3261A			Q2LD37	K1109_HUMAN			57	10156	+			3261					Q4W598|Q5CZA9|Q6ZS70|Q6ZV75|Q86XA5|Q8WVD8|Q9H742|Q9NT48|Q9NTC3|Q9NTI4|Q9P2H6|Q9UPP3	Silent	SNP	ENST00000264501.4	37	c.9783T>C	CCDS43267.1	.	.	.	.	.	.	.	.	.	.	T	9.975	1.226434	0.22542	.	.	ENSG00000138688	ENST00000419325	.	.	.	5.39	0.105	0.14535	.	.	.	.	.	T	0.50394	0.1613	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.34054	-0.9844	4	.	.	.	.	4.8988	0.13764	0.1254:0.2809:0.0:0.5937	.	.	.	.	R	1219	.	.	C	+	1	0	KIAA1109	123446592	0.259000	0.24043	0.997000	0.53966	0.997000	0.91878	-0.433000	0.06948	-0.173000	0.10761	0.482000	0.46254	TGT		0.388	KIAA1109-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316415.1	NM_020797		25	106	0	0	0	1	0	25	106					C	123227142	T	C	123227142	2	2	435	1	0	0	0	0	0	0	0	1	8208	1567	55	4		4	KIAA1109	4	123227142	Silent	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	104940	123227142	67927134	2443	23368											
KIAA1109	84162	broad.mit.edu	37	chr4	123246434	123246434	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagaaatccgtgtggatgcaGcatctcctggacctagagta	11	9	11	10	1	1	2	0	0	1	2	3	4	2	4	3	2	2	3	3	2	3	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:123246434G>A	ENST00000264501.4	+	65	11327	c.10954G>A	c.(10954-10956)Gca>Aca	p.A3652T	KIAA1109_ENST00000388738.3_Missense_Mutation_p.A3652T|KIAA1109_ENST00000455637.1_Missense_Mutation_p.A3652T			Q2LD37	K1109_HUMAN	KIAA1109	3652					regulation of cell growth (GO:0001558)|regulation of epithelial cell differentiation (GO:0030856)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						TGTGGATGCAGCATCTCCTGG	0.318																																						ENST00000264501.4																			0				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						c.(10954-10956)Gca>Aca		KIAA1109							76	78	77					4																	123246434		1813	4073	5886	SO:0001583	missense	84162				regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus		g.chr4:123246434G>A	AL137384	CCDS43267.1	4q28.1	2012-07-09			ENSG00000138688	ENSG00000138688			26953	protein-coding gene	gene with protein product	"fragile site-associated"	611565				16386706	Standard	NM_015312		Approved	FLJ21404, FSA, KIAA1371, Tweek	uc003ieh.3	Q2LD37	OTTHUMG00000150116	ENST00000264501.4:c.10954G>A	4.37:g.123246434G>A	ENSP00000264501:p.Ala3652Thr					KIAA1109_ENST00000455637.1_Missense_Mutation_p.A3652T|KIAA1109_ENST00000388738.3_Missense_Mutation_p.A3652T	p.A3652T			Q2LD37	K1109_HUMAN			65	11327	+			3652					Q4W598|Q5CZA9|Q6ZS70|Q6ZV75|Q86XA5|Q8WVD8|Q9H742|Q9NT48|Q9NTC3|Q9NTI4|Q9P2H6|Q9UPP3	Missense_Mutation	SNP	ENST00000264501.4	37	c.10954G>A	CCDS43267.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	32|32	5.158988|5.158988	0.94686|0.94686	.|.	.|.	ENSG00000138688|ENSG00000138688	ENST00000264501;ENST00000388738;ENST00000455637;ENST00000438707|ENST00000419325	T;T;T;T|.	0.39056|.	2.08;2.08;1.6;1.1|.	5.93|5.93	5.93|5.93	0.95920|0.95920	.|.	0.142109|.	0.45867|.	D|.	0.000326|.	T|T	0.69278|0.69278	0.3093|0.3093	L|L	0.44542|0.44542	1.39|1.39	0.51767|0.51767	D|D	0.999937|0.999937	P;B;P|.	0.42456|.	0.573;0.137;0.78|.	B;B;B|.	0.35039|.	0.168;0.109;0.194|.	T|T	0.62760|0.62760	-0.6786|-0.6786	10|5	0.10902|.	T|.	0.67|.	.|.	20.3311|20.3311	0.98718|0.98718	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	3651;3652;3652|.	Q2LD37-4;Q2LD37-6;Q2LD37|.	.;.;K1109_HUMAN|.	T|N	3652;3652;3652;335|1609	ENSP00000264501:A3652T;ENSP00000373390:A3652T;ENSP00000389925:A3652T;ENSP00000410874:A335T|.	ENSP00000264501:A3652T|.	A|S	+|+	1|2	0|0	KIAA1109|KIAA1109	123465884|123465884	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	3.293000|3.293000	0.51779|0.51779	2.797000|2.797000	0.96272|0.96272	0.655000|0.655000	0.94253|0.94253	GCA|AGC		0.318	KIAA1109-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316415.1	NM_020797		14	69	0	0	0	1	0	14	69					A	123246434	G	A	123246434	3	1	435	1	0	0	0	0	1	0	0	0	8208	971	34	3	11204	3	KIAA1109	4	123246434	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	19292	123246434	67907842	2444	23369											
IL21	59067	broad.mit.edu	37	chr4	123534004	123534004	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aaatgaaacttaaggtagatAccttttggagaagtgatttg	15	13	10	3	0	0	4	0	2	0	2	0	5	0	4	1	2	2	1	1	2	6	6			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:123534004A>G	ENST00000264497.3	-	4	496		c.e4+1			NM_001207006.2|NM_021803.3	NP_001193935.1|NP_068575.1	Q9HBE4	IL21_HUMAN	interleukin 21						cell maturation (GO:0048469)|immune response (GO:0006955)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cell proliferation (GO:0008284)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-17 production (GO:0032740)|positive regulation of natural killer cell cytokine production (GO:0002729)|positive regulation of natural killer cell differentiation (GO:0032825)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of tissue remodeling (GO:0034105)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|signal transduction (GO:0007165)	extracellular space (GO:0005615)	cytokine receptor binding (GO:0005126)|interleukin-2 receptor binding (GO:0005134)			NS(1)|kidney(1)|large_intestine(2)|liver(1)|lung(3)	8						TAAGGTAGATACCTTTTGGAG	0.333																																						ENST00000264497.3																			0				NS(1)|kidney(1)|large_intestine(2)|liver(1)|lung(3)	8						c.e4+1		interleukin 21							100	106	104					4																	123534004		2203	4300	6503	SO:0001630	splice_region_variant	59067				cell maturation|immune response|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-17 production|positive regulation of T cell proliferation|signal transduction	extracellular space	cytokine activity|interleukin-2 receptor binding	g.chr4:123534004A>G	AF254069	CCDS3727.1, CCDS75189.1	4q26-q27	2011-07-15			ENSG00000138684	ENSG00000138684		"Interleukins and interleukin receptors"	6005	protein-coding gene	gene with protein product		605384				11081504, 17947662	Standard	NM_001207006		Approved	Za11, IL-21	uc003ies.3	Q9HBE4	OTTHUMG00000133073	ENST00000264497.3:c.438+1T>C	4.37:g.123534004A>G								NM_001207006.2|NM_021803.3	NP_001193935.1|NP_068575.1	Q9HBE4	IL21_HUMAN			4	496	-								A5J0L4	Splice_Site	SNP	ENST00000264497.3	37		CCDS3727.1	.	.	.	.	.	.	.	.	.	.	A	17.40	3.379126	0.61735	.	.	ENSG00000138684	ENST00000264497	.	.	.	4.81	4.81	0.61882	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.7603	0.51898	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	IL21	123753454	1.000000	0.71417	0.983000	0.44433	0.887000	0.51463	4.581000	0.60949	1.797000	0.52628	0.383000	0.25322	.		0.333	IL21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256713.1	NM_021803	Intron	7	26	0	0	0	1	0	7	26					G	123534004	A	G	123534004	5	3	435	1	0	0	0	0	0	0	1	0	7670	405	14	4	56	4	IL21	4	123534004	Splice_Site	SNP	A	TCGA-XK-AAIW-01A-11D-A41K-08	287570	123534004	67620272	2445	23370											
BBS12	166379	broad.mit.edu	37	chr4	123664110	123664110	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aattgcagaatcagcctgtgCgaatagttctcattgagggt	11	12	11	7	1	2	2	2	1	1	1	3	3	2	2	1	1	3	2	1	1	4	4	rs121918327		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:123664110C>T	ENST00000314218.3	+	2	1256	c.1063C>T	c.(1063-1065)Cga>Tga	p.R355*	BBS12_ENST00000542236.1_Nonsense_Mutation_p.R355*	NM_152618.2	NP_689831.2	Q6ZW61	BBS12_HUMAN	Bardet-Biedl syndrome 12	355			R -> Q (in BBS12). {ECO:0000269|PubMed:21344540}.		cellular protein metabolic process (GO:0044267)|chaperone-mediated protein complex assembly (GO:0051131)|eating behavior (GO:0042755)|intraciliary transport (GO:0042073)|negative regulation of fat cell differentiation (GO:0045599)|photoreceptor cell maintenance (GO:0045494)	cilium (GO:0005929)	ATP binding (GO:0005524)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|prostate(4)	21						TCAGCCTGTGCGAATAGTTCT	0.403									Bardet-Biedl syndrome																													ENST00000542236.1																			0				cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|prostate(4)	21	GRCh37	CM070035	BBS12	M	rs121918327	c.(1063-1065)Cga>Tga		Bardet-Biedl syndrome 12							75	69	71					4																	123664110		2203	4300	6503	SO:0001587	stop_gained	166379	Bardet-Biedl syndrome	Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome	cellular protein metabolic process	cilium	ATP binding	g.chr4:123664110C>T	AK123553	CCDS3728.1	4q27	2014-06-17	2006-12-13	2006-12-13	ENSG00000181004	ENSG00000181004		"Heat Shock Proteins / Chaperonins"	26648	protein-coding gene	gene with protein product		610683	"chromosome 4 open reading frame 24"	C4orf24		17160889	Standard	NM_001178007		Approved	FLJ35630, FLJ41559	uc003ieu.3	Q6ZW61	OTTHUMG00000133070	ENST00000314218.3:c.1063C>T	4.37:g.123664110C>T	ENSP00000319062:p.Arg355*					BBS12_ENST00000314218.3_Nonsense_Mutation_p.R355*	p.R355*	NM_001178007.1	NP_001171478.1	Q6ZW61	BBS12_HUMAN			3	1444	+			355					D3DNX5|Q7Z342|Q7Z482|Q8NAB8	Nonsense_Mutation	SNP	ENST00000314218.3	37	c.1063C>T	CCDS3728.1	.	.	.	.	.	.	.	.	.	.	C	25.2	4.612421	0.87258	.	.	ENSG00000181004	ENST00000314218;ENST00000542236	.	.	.	5.68	3.87	0.44632	.	0.328714	0.30519	N	0.009448	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-1.5893	5.7827	0.18316	0.2476:0.5653:0.1203:0.0668	.	.	.	.	X	355	.	ENSP00000319062:R355X	R	+	1	2	BBS12	123883560	0.998000	0.40836	0.006000	0.13384	0.053000	0.15095	2.134000	0.42102	1.367000	0.46095	0.650000	0.86243	CGA		0.403	BBS12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256710.1	NM_152618		21	27	0	0	0	1	0	21	27					T	123664110	C	T	123664110	4	4	435	1	0	0	0	0	0	1	0	0	1337	760	27	1	1065	1	BBS12	4	123664110	Nonsense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	130106	123664110	67490166	2446	23371											
BBS12	166379	broad.mit.edu	37	chr4	123664604	123664604	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	caaatcaaagaagataggttCtggacatgtgcctatcgttt	13	12	9	7	1	2	2	1	0	1	2	3	3	2	3	1	2	1	2	1	2	5	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:123664604C>T	ENST00000314218.3	+	2	1750	c.1557C>T	c.(1555-1557)ttC>ttT	p.F519F	BBS12_ENST00000542236.1_Silent_p.F519F	NM_152618.2	NP_689831.2	Q6ZW61	BBS12_HUMAN	Bardet-Biedl syndrome 12	519					cellular protein metabolic process (GO:0044267)|chaperone-mediated protein complex assembly (GO:0051131)|eating behavior (GO:0042755)|intraciliary transport (GO:0042073)|negative regulation of fat cell differentiation (GO:0045599)|photoreceptor cell maintenance (GO:0045494)	cilium (GO:0005929)	ATP binding (GO:0005524)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|prostate(4)	21						AAGATAGGTTCTGGACATGTG	0.393									Bardet-Biedl syndrome																													ENST00000542236.1																			0				cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|prostate(4)	21						c.(1555-1557)ttC>ttT		Bardet-Biedl syndrome 12							125	124	125					4																	123664604		2203	4300	6503	SO:0001819	synonymous_variant	166379	Bardet-Biedl syndrome	Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome	cellular protein metabolic process	cilium	ATP binding	g.chr4:123664604C>T	AK123553	CCDS3728.1	4q27	2014-06-17	2006-12-13	2006-12-13	ENSG00000181004	ENSG00000181004		"Heat Shock Proteins / Chaperonins"	26648	protein-coding gene	gene with protein product		610683	"chromosome 4 open reading frame 24"	C4orf24		17160889	Standard	NM_001178007		Approved	FLJ35630, FLJ41559	uc003ieu.3	Q6ZW61	OTTHUMG00000133070	ENST00000314218.3:c.1557C>T	4.37:g.123664604C>T						BBS12_ENST00000314218.3_Silent_p.F519F	p.F519F	NM_001178007.1	NP_001171478.1	Q6ZW61	BBS12_HUMAN			3	1938	+			519					D3DNX5|Q7Z342|Q7Z482|Q8NAB8	Silent	SNP	ENST00000314218.3	37	c.1557C>T	CCDS3728.1																																																																																				0.393	BBS12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256710.1	NM_152618		20	62	0	0	0	1	0	20	62					T	123664604	C	T	123664604	2	4	435	1	0	0	0	0	0	0	0	1	1337	912	32	3		3	BBS12	4	123664604	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	494	123664604	67489672	2447	23372											
BBS12	166379	broad.mit.edu	37	chr4	123665162	123665162	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ataaattcacaggaattaacGggctttctatttttgtagtg	12	16	8	5	1	2	0	1	0	1	0	2	1	2	1	0	2	1	2	0	2	6	8			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:123665162G>A	ENST00000314218.3	+	2	2308	c.2115G>A	c.(2113-2115)acG>acA	p.T705T	BBS12_ENST00000542236.1_Silent_p.T705T	NM_152618.2	NP_689831.2	Q6ZW61	BBS12_HUMAN	Bardet-Biedl syndrome 12	705					cellular protein metabolic process (GO:0044267)|chaperone-mediated protein complex assembly (GO:0051131)|eating behavior (GO:0042755)|intraciliary transport (GO:0042073)|negative regulation of fat cell differentiation (GO:0045599)|photoreceptor cell maintenance (GO:0045494)	cilium (GO:0005929)	ATP binding (GO:0005524)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|prostate(4)	21						AGGAATTAACGGGCTTTCTAT	0.348									Bardet-Biedl syndrome																													ENST00000542236.1																			0				cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|prostate(4)	21						c.(2113-2115)acG>acA		Bardet-Biedl syndrome 12							67	73	71					4																	123665162		2202	4297	6499	SO:0001819	synonymous_variant	166379	Bardet-Biedl syndrome	Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome	cellular protein metabolic process	cilium	ATP binding	g.chr4:123665162G>A	AK123553	CCDS3728.1	4q27	2014-06-17	2006-12-13	2006-12-13	ENSG00000181004	ENSG00000181004		"Heat Shock Proteins / Chaperonins"	26648	protein-coding gene	gene with protein product		610683	"chromosome 4 open reading frame 24"	C4orf24		17160889	Standard	NM_001178007		Approved	FLJ35630, FLJ41559	uc003ieu.3	Q6ZW61	OTTHUMG00000133070	ENST00000314218.3:c.2115G>A	4.37:g.123665162G>A						BBS12_ENST00000314218.3_Silent_p.T705T	p.T705T	NM_001178007.1	NP_001171478.1	Q6ZW61	BBS12_HUMAN			3	2496	+			705					D3DNX5|Q7Z342|Q7Z482|Q8NAB8	Silent	SNP	ENST00000314218.3	37	c.2115G>A	CCDS3728.1																																																																																				0.348	BBS12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256710.1	NM_152618		31	44	0	0	0	1	0	31	44					A	123665162	G	A	123665162	2	1	435	1	0	0	0	0	0	0	0	1	1337	1103	39	2		2	BBS12	4	123665162	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	558	123665162	67489114	2448	23373											
SPATA5	166378	broad.mit.edu	37	chr4	123850197	123850197	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atttcctctgtctggcaggtGtatacagcctggcctatggc	6	13	11	11	0	2	0	0	0	2	0	3	0	3	0	3	4	2	2	3	4	3	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:123850197G>A	ENST00000274008.4	+	3	360	c.291G>A	c.(289-291)gtG>gtA	p.V97V	SPATA5_ENST00000422835.2_3'UTR	NM_145207.2	NP_660208.2	Q8NB90	SPAT5_HUMAN	spermatogenesis associated 5	97					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)			endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24						TCTGGCAGGTGTATACAGCCT	0.433																																						ENST00000274008.3																			0				endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24						c.(289-291)gtG>gtA		spermatogenesis associated 5							50	49	49					4																	123850197		2203	4300	6503	SO:0001819	synonymous_variant	166378				cell differentiation|multicellular organismal development|spermatogenesis	mitochondrion	ATP binding|nucleoside-triphosphatase activity	g.chr4:123850197G>A	AF361489	CCDS3730.1	4q28.1	2010-04-21			ENSG00000145375	ENSG00000145375		"ATPases / AAA-type"	18119	protein-coding gene	gene with protein product	"ATPase family gene 2 homolog (S. cerevisiae)"	613940				16465403	Standard	NM_145207		Approved	SPAF, AFG2	uc003iez.4	Q8NB90	OTTHUMG00000133074	ENST00000274008.4:c.291G>A	4.37:g.123850197G>A						SPATA5_ENST00000422835.2_3'UTR	p.V97V	NM_145207.2	NP_660208.2	Q8NB90	SPAT5_HUMAN			3	360	+			97					C9JT97|Q86XW1|Q8NI20|Q8TDL7	Silent	SNP	ENST00000274008.4	37	c.291G>A	CCDS3730.1																																																																																				0.433	SPATA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256714.2	NM_145207		9	11	0	0	0	1	0	9	11					A	123850197	G	A	123850197	2	1	435	1	0	0	0	0	0	0	0	1	15010	1364	48	3		3	SPATA5	4	123850197	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	185035	123850197	67304079	2449	23374											
FAT4	79633	broad.mit.edu	37	chr4	126241422	126241422	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctgcctattcccttgtaattCaagcagtggattcagggaca	10	12	9	10	0	2	0	2	0	0	0	3	2	3	2	2	2	2	2	2	2	3	6			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:126241422C>T	ENST00000394329.3	+	1	3869	c.3856C>T	c.(3856-3858)Caa>Taa	p.Q1286*		NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	1286	Cadherin 12. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						CCTTGTAATTCAAGCAGTGGA	0.373																																						ENST00000394329.3																			0				NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						c.(3856-3858)Caa>Taa		FAT atypical cadherin 4							93	85	88					4																	126241422		1883	4109	5992	SO:0001587	stop_gained	79633				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:126241422C>T	AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"Cadherins / Cadherin-related"	23109	protein-coding gene	gene with protein product	"cadherin-related family member 11"	612411	"FAT tumor suppressor homolog 4 (Drosophila)"			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.3856C>T	4.37:g.126241422C>T	ENSP00000377862:p.Gln1286*						p.Q1286*	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN			1	3869	+			1286			Cadherin 12.		A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Nonsense_Mutation	SNP	ENST00000394329.3	37	c.3856C>T	CCDS3732.3	.	.	.	.	.	.	.	.	.	.	C	42	9.412131	0.99163	.	.	ENSG00000196159	ENST00000394329	.	.	.	4.81	3.96	0.45880	.	0.000000	0.33419	U	0.004930	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.22109	T	0.4	.	15.272	0.73708	0.0:0.8594:0.1406:0.0	.	.	.	.	X	1286	.	ENSP00000377862:Q1286X	Q	+	1	0	FAT4	126460872	1.000000	0.71417	0.899000	0.35326	0.965000	0.64279	2.207000	0.42788	1.251000	0.43983	-0.264000	0.10439	CAA		0.373	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582		25	50	0	0	0	1	0	25	50					T	126241422	C	T	126241422	4	4	435	1	0	0	0	0	0	1	0	0	5692	827	29	3	3858	3	FAT4	4	126241422	Nonsense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	2391225	126241422	64912854	2450	23375											
FAT4	79633	broad.mit.edu	37	chr4	126241756	126241756	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aacagcaaaagaccaaggaaGacctcctcgttcatctacaa	17	6	6	12	1	2	2	1	0	1	2	4	3	3	3	3	1	3	2	3	1	7	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:126241756G>A	ENST00000394329.3	+	1	4203	c.4190G>A	c.(4189-4191)aGa>aAa	p.R1397K		NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	1397	Cadherin 13. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						GACCAAGGAAGACCTCCTCGT	0.378																																						ENST00000394329.3																			0				NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						c.(4189-4191)aGa>aAa		FAT atypical cadherin 4							128	121	123					4																	126241756		1853	4086	5939	SO:0001583	missense	79633				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:126241756G>A	AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"Cadherins / Cadherin-related"	23109	protein-coding gene	gene with protein product	"cadherin-related family member 11"	612411	"FAT tumor suppressor homolog 4 (Drosophila)"			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.4190G>A	4.37:g.126241756G>A	ENSP00000377862:p.Arg1397Lys						p.R1397K	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN			1	4203	+			1397			Cadherin 13.		A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Missense_Mutation	SNP	ENST00000394329.3	37	c.4190G>A	CCDS3732.3	.	.	.	.	.	.	.	.	.	.	G	14.57	2.575013	0.45902	.	.	ENSG00000196159	ENST00000394329	T	0.01685	4.69	4.87	4.87	0.63330	Cadherin (4);Cadherin-like (1);	0.000000	0.36167	U	0.002754	T	0.02533	0.0077	N	0.10760	0.04	0.80722	D	1	D	0.62365	0.991	D	0.74023	0.982	T	0.63795	-0.6556	10	0.06494	T	0.89	.	11.6377	0.51213	0.0811:0.0:0.9189:0.0	.	1397	Q6V0I7	FAT4_HUMAN	K	1397	ENSP00000377862:R1397K	ENSP00000377862:R1397K	R	+	2	0	FAT4	126461206	1.000000	0.71417	0.959000	0.39883	0.892000	0.51952	7.664000	0.83830	2.535000	0.85469	0.655000	0.94253	AGA		0.378	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582		45	80	0	0	0	1	0	45	80					A	126241756	G	A	126241756	3	1	435	1	0	0	0	0	1	0	0	0	5692	942	33	3	4192	3	FAT4	4	126241756	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	334	126241756	64912520	2451	23376											
FAT4	79633	broad.mit.edu	37	chr4	126336670	126336670	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagcagatggagatgaaggCacaaatggacaggttcgcta	14	6	14	7	1	0	3	0	1	0	2	1	5	0	4	0	4	1	5	0	4	3	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:126336670C>T	ENST00000394329.3	+	5	6565	c.6552C>T	c.(6550-6552)ggC>ggT	p.G2184G	FAT4_ENST00000335110.5_Silent_p.G482G	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	2184	Cadherin 21. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						GAGATGAAGGCACAAATGGAC	0.418																																						ENST00000394329.3																			0				NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						c.(6550-6552)ggC>ggT		FAT atypical cadherin 4							170	153	158					4																	126336670		2203	4300	6503	SO:0001819	synonymous_variant	79633				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:126336670C>T	AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"Cadherins / Cadherin-related"	23109	protein-coding gene	gene with protein product	"cadherin-related family member 11"	612411	"FAT tumor suppressor homolog 4 (Drosophila)"			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.6552C>T	4.37:g.126336670C>T						FAT4_ENST00000335110.5_Silent_p.G482G	p.G2184G	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN			5	6565	+			2184			Cadherin 21.		A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Silent	SNP	ENST00000394329.3	37	c.6552C>T	CCDS3732.3																																																																																				0.418	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582		6	95	0	0	0	1	0	6	95					T	126336670	C	T	126336670	2	4	435	1	0	0	0	0	0	0	0	1	5692	697	25	3		3	FAT4	4	126336670	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	94914	126336670	64817606	2452	23377											
FAT4	79633	broad.mit.edu	37	chr4	126337678	126337678	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttggtggtaatgaagacaatGcttttactctctcagccagt	10	14	9	8	0	2	2	1	1	1	1	3	2	2	2	1	2	3	2	1	2	4	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:126337678G>A	ENST00000394329.3	+	6	6932	c.6919G>A	c.(6919-6921)Gct>Act	p.A2307T	FAT4_ENST00000335110.5_Missense_Mutation_p.A605T	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	2307	Cadherin 22. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						TGAAGACAATGCTTTTACTCT	0.428																																						ENST00000394329.3																			0				NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						c.(6919-6921)Gct>Act		FAT atypical cadherin 4							286	274	278					4																	126337678		2203	4300	6503	SO:0001583	missense	79633				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:126337678G>A	AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"Cadherins / Cadherin-related"	23109	protein-coding gene	gene with protein product	"cadherin-related family member 11"	612411	"FAT tumor suppressor homolog 4 (Drosophila)"			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.6919G>A	4.37:g.126337678G>A	ENSP00000377862:p.Ala2307Thr					FAT4_ENST00000335110.5_Missense_Mutation_p.A605T	p.A2307T	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN			6	6932	+			2307			Cadherin 22.		A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Missense_Mutation	SNP	ENST00000394329.3	37	c.6919G>A	CCDS3732.3	.	.	.	.	.	.	.	.	.	.	G	11.27	1.589339	0.28357	.	.	ENSG00000196159	ENST00000394329;ENST00000335110	T;T	0.50813	0.73;0.73	5.23	1.54	0.23209	Cadherin (4);Cadherin-like (1);	0.000000	0.34110	U	0.004241	T	0.42517	0.1206	N	0.14661	0.345	0.45439	D	0.998414	D;D	0.76494	0.999;0.999	D;D	0.74023	0.98;0.982	T	0.22208	-1.0223	10	0.22109	T	0.4	.	6.631	0.22857	0.2034:0.0:0.6709:0.1257	.	605;2307	Q6V0I7-2;Q6V0I7	.;FAT4_HUMAN	T	2307;605	ENSP00000377862:A2307T;ENSP00000335169:A605T	ENSP00000335169:A605T	A	+	1	0	FAT4	126557128	1.000000	0.71417	0.043000	0.18650	0.016000	0.09150	3.932000	0.56537	-0.021000	0.14009	-1.002000	0.02502	GCT		0.428	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582		15	113	0	0	0	1	0	15	113					A	126337678	G	A	126337678	3	1	435	1	0	0	0	0	1	0	0	0	5692	1319	46	3	6941	3	FAT4	4	126337678	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	1008	126337678	64816598	2453	23378											
FAT4	79633	broad.mit.edu	37	chr4	126355544	126355544	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	agatgttttattggtaaatgCctcagatgctgatgcttcaa	11	15	9	6	0	2	3	2	1	0	2	2	3	2	3	1	1	3	4	1	1	4	5	rs370391156		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:126355544C>T	ENST00000394329.3	+	7	7176	c.7163C>T	c.(7162-7164)gCc>gTc	p.A2388V	FAT4_ENST00000335110.5_Missense_Mutation_p.A686V	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	2388	Cadherin 23. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						TTGGTAAATGCCTCAGATGCT	0.363																																						ENST00000394329.3																			0				NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						c.(7162-7164)gCc>gTc		FAT atypical cadherin 4							189	164	173					4																	126355544		2203	4300	6503	SO:0001583	missense	79633				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:126355544C>T	AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"Cadherins / Cadherin-related"	23109	protein-coding gene	gene with protein product	"cadherin-related family member 11"	612411	"FAT tumor suppressor homolog 4 (Drosophila)"			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.7163C>T	4.37:g.126355544C>T	ENSP00000377862:p.Ala2388Val					FAT4_ENST00000335110.5_Missense_Mutation_p.A686V	p.A2388V	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN			7	7176	+			2388			Cadherin 23.		A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Missense_Mutation	SNP	ENST00000394329.3	37	c.7163C>T	CCDS3732.3	.	.	.	.	.	.	.	.	.	.	C	17.52	3.411363	0.62399	.	.	ENSG00000196159	ENST00000394329;ENST00000335110	T;T	0.59364	0.27;0.27	5.0	5.0	0.66597	Cadherin (4);Cadherin-like (1);	0.254138	0.20059	U	0.100137	T	0.64227	0.2579	M	0.72353	2.195	0.42584	D	0.993222	P;P	0.45428	0.688;0.858	B;P	0.46940	0.248;0.532	T	0.70073	-0.4972	10	0.87932	D	0	.	14.1691	0.65497	0.0:0.8505:0.1495:0.0	.	686;2388	Q6V0I7-2;Q6V0I7	.;FAT4_HUMAN	V	2388;686	ENSP00000377862:A2388V;ENSP00000335169:A686V	ENSP00000335169:A686V	A	+	2	0	FAT4	126574994	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	2.939000	0.48995	2.596000	0.87737	0.655000	0.94253	GCC		0.363	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582		35	40	0	0	0	1	0	35	40					T	126355544	C	T	126355544	3	4	435	1	0	0	0	0	1	0	0	0	5692	739	26	3	7189	3	FAT4	4	126355544	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	17866	126355544	64798732	2454	23379											
FAT4	79633	broad.mit.edu	37	chr4	126367515	126367515	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caggacaaatcatcaccagcGcattgttagatagggaaaca	16	7	9	9	1	2	1	2	0	0	1	2	3	2	3	1	2	2	2	1	2	4	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:126367515G>A	ENST00000394329.3	+	8	7274	c.7261G>A	c.(7261-7263)Gca>Aca	p.A2421T	FAT4_ENST00000335110.5_Missense_Mutation_p.A719T	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	2421	Cadherin 23. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.A2421T(2)		NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						CATCACCAGCGCATTGTTAGA	0.443																																						ENST00000394329.3																			2	Substitution - Missense(2)	p.A2421T(2)	large_intestine(2)	NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						c.(7261-7263)Gca>Aca		FAT atypical cadherin 4							122	121	121					4																	126367515		2203	4300	6503	SO:0001583	missense	79633				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:126367515G>A	AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"Cadherins / Cadherin-related"	23109	protein-coding gene	gene with protein product	"cadherin-related family member 11"	612411	"FAT tumor suppressor homolog 4 (Drosophila)"			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.7261G>A	4.37:g.126367515G>A	ENSP00000377862:p.Ala2421Thr					FAT4_ENST00000335110.5_Missense_Mutation_p.A719T	p.A2421T	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN			8	7274	+			2421			Cadherin 23.		A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Missense_Mutation	SNP	ENST00000394329.3	37	c.7261G>A	CCDS3732.3	.	.	.	.	.	.	.	.	.	.	G	13.10	2.135541	0.37728	.	.	ENSG00000196159	ENST00000394329;ENST00000335110	T;T	0.52526	0.66;0.66	5.69	5.69	0.88448	Cadherin (4);Cadherin-like (1);	0.000000	0.34110	U	0.004257	T	0.46464	0.1394	L	0.48218	1.51	0.42535	D	0.993055	P;D	0.59357	0.827;0.985	B;P	0.48795	0.182;0.59	T	0.29212	-1.0019	10	0.10902	T	0.67	.	14.637	0.68696	0.0:0.0:0.8545:0.1455	.	719;2421	Q6V0I7-2;Q6V0I7	.;FAT4_HUMAN	T	2421;719	ENSP00000377862:A2421T;ENSP00000335169:A719T	ENSP00000335169:A719T	A	+	1	0	FAT4	126586965	1.000000	0.71417	0.845000	0.33349	0.191000	0.23601	4.077000	0.57598	2.677000	0.91161	0.655000	0.94253	GCA		0.443	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582		34	47	0	0	0	1	0	34	47					A	126367515	G	A	126367515	3	1	435	1	0	0	0	0	1	0	0	0	5692	1087	38	1	7291	1	FAT4	4	126367515	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	11971	126367515	64786761	2455	23380											
FAT4	79633	broad.mit.edu	37	chr4	126369942	126369942	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctcttgtcaccaccatcacaGgatcctctttaagaggagaa	12	10	7	12	0	4	2	2	0	2	2	5	4	5	3	3	2	0	0	3	2	2	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:126369942G>T	ENST00000394329.3	+	9	7784	c.7771G>T	c.(7771-7773)Gga>Tga	p.G2591*	FAT4_ENST00000335110.5_Nonsense_Mutation_p.G889*	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	2591	Cadherin 25. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						CACCATCACAGGATCCTCTTT	0.423																																						ENST00000394329.3																			0				NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						c.(7771-7773)Gga>Tga		FAT atypical cadherin 4							55	53	53					4																	126369942		2203	4299	6502	SO:0001587	stop_gained	79633				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:126369942G>T	AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"Cadherins / Cadherin-related"	23109	protein-coding gene	gene with protein product	"cadherin-related family member 11"	612411	"FAT tumor suppressor homolog 4 (Drosophila)"			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.7771G>T	4.37:g.126369942G>T	ENSP00000377862:p.Gly2591*					FAT4_ENST00000335110.5_Nonsense_Mutation_p.G889*	p.G2591*	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN			9	7784	+			2591			Cadherin 25.		A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Nonsense_Mutation	SNP	ENST00000394329.3	37	c.7771G>T	CCDS3732.3	.	.	.	.	.	.	.	.	.	.	G	46	12.852885	0.99701	.	.	ENSG00000196159	ENST00000394329;ENST00000335110	.	.	.	5.83	5.83	0.93111	.	0.000000	0.34362	U	0.004033	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	20.1337	0.98010	0.0:0.0:1.0:0.0	.	.	.	.	X	2591;889	.	ENSP00000335169:G889X	G	+	1	0	FAT4	126589392	1.000000	0.71417	0.099000	0.21106	0.004000	0.04260	9.666000	0.98612	2.753000	0.94483	0.650000	0.86243	GGA		0.423	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582		4	27	1	0	0.150653	1	0.151081	4	27					T	126369942	G	T	126369942	4	4	435	1	0	0	0	0	0	1	0	0	5692	1001	35	5	7805	5	FAT4	4	126369942	Nonsense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	2427	126369942	64784334	2456	23381											
FAT4	79633	broad.mit.edu	37	chr4	126371285	126371285	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tttaagttggacaatgatacGgggtggatttcagtagcatc	11	13	12	5	1	1	1	1	1	0	0	2	3	1	3	0	4	2	3	0	4	4	6			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:126371285G>A	ENST00000394329.3	+	9	9127	c.9114G>A	c.(9112-9114)acG>acA	p.T3038T	FAT4_ENST00000335110.5_Silent_p.T1336T	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	3038	Cadherin 29. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.T3038T(2)		NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						ACAATGATACGGGGTGGATTT	0.373																																						ENST00000394329.3																			2	Substitution - coding silent(2)	p.T3038T(2)	lung(2)	NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						c.(9112-9114)acG>acA		FAT atypical cadherin 4							74	75	75					4																	126371285		2203	4300	6503	SO:0001819	synonymous_variant	79633				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:126371285G>A	AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"Cadherins / Cadherin-related"	23109	protein-coding gene	gene with protein product	"cadherin-related family member 11"	612411	"FAT tumor suppressor homolog 4 (Drosophila)"			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.9114G>A	4.37:g.126371285G>A						FAT4_ENST00000335110.5_Silent_p.T1336T	p.T3038T	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN			9	9127	+			3038			Cadherin 29.		A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Silent	SNP	ENST00000394329.3	37	c.9114G>A	CCDS3732.3																																																																																				0.373	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582		20	25	0	0	0	1	0	20	25					A	126371285	G	A	126371285	2	1	435	1	0	0	0	0	0	0	0	1	5692	1103	39	2		2	FAT4	4	126371285	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	1343	126371285	64782991	2457	23382											
FAT4	79633	broad.mit.edu	37	chr4	126371551	126371551	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaatggcttgattaagtacaGcatttcttcaggaaatgaag	14	12	10	5	0	2	2	1	2	1	0	2	4	2	3	0	2	2	3	0	2	5	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:126371551G>A	ENST00000394329.3	+	9	9393	c.9380G>A	c.(9379-9381)aGc>aAc	p.S3127N	FAT4_ENST00000335110.5_Missense_Mutation_p.S1425N	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	3127	Cadherin 30. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						ATTAAGTACAGCATTTCTTCA	0.408																																						ENST00000394329.3																			0				NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						c.(9379-9381)aGc>aAc		FAT atypical cadherin 4							68	67	67					4																	126371551		2203	4300	6503	SO:0001583	missense	79633				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:126371551G>A	AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"Cadherins / Cadherin-related"	23109	protein-coding gene	gene with protein product	"cadherin-related family member 11"	612411	"FAT tumor suppressor homolog 4 (Drosophila)"			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.9380G>A	4.37:g.126371551G>A	ENSP00000377862:p.Ser3127Asn					FAT4_ENST00000335110.5_Missense_Mutation_p.S1425N	p.S3127N	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN			9	9393	+			3127			Cadherin 30.		A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Missense_Mutation	SNP	ENST00000394329.3	37	c.9380G>A	CCDS3732.3	.	.	.	.	.	.	.	.	.	.	G	7.768	0.706939	0.15239	.	.	ENSG00000196159	ENST00000394329;ENST00000335110	T;T	0.03524	3.9;3.9	5.63	0.131	0.14755	Cadherin (4);Cadherin-like (1);	0.389610	0.17761	N	0.162886	T	0.03178	0.0093	L	0.47716	1.5	0.26817	N	0.968876	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.06405	0.001;0.002;0.0	T	0.40515	-0.9559	10	0.25106	T	0.35	.	4.1928	0.10430	0.4244:0.3524:0.2233:0.0	.	1425;3127;3127	Q6V0I7-2;Q6V0I7;Q6V0I7-3	.;FAT4_HUMAN;.	N	3127;1425	ENSP00000377862:S3127N;ENSP00000335169:S1425N	ENSP00000335169:S1425N	S	+	2	0	FAT4	126591001	0.973000	0.33851	0.972000	0.41901	0.838000	0.47535	0.894000	0.28350	0.293000	0.22520	0.655000	0.94253	AGC		0.408	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582		18	27	0	0	0	1	0	18	27					A	126371551	G	A	126371551	3	1	435	1	0	0	0	0	1	0	0	0	5692	971	34	3	9414	3	FAT4	4	126371551	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	266	126371551	64782725	2458	23383											
FAT4	79633	broad.mit.edu	37	chr4	126372317	126372317	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagaactttggcagcattagAggtgcagatatagatgaggt	14	10	13	4	0	0	5	0	1	0	4	0	5	0	5	0	3	3	3	0	3	5	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:126372317A>G	ENST00000394329.3	+	9	10159	c.10146A>G	c.(10144-10146)agA>agG	p.R3382R	FAT4_ENST00000335110.5_Silent_p.R1680R	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	3382	Cadherin 32. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						GCAGCATTAGAGGTGCAGATA	0.403																																						ENST00000394329.3																			0				NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						c.(10144-10146)agA>agG		FAT atypical cadherin 4							169	163	165					4																	126372317		2203	4300	6503	SO:0001819	synonymous_variant	79633				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:126372317A>G	AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"Cadherins / Cadherin-related"	23109	protein-coding gene	gene with protein product	"cadherin-related family member 11"	612411	"FAT tumor suppressor homolog 4 (Drosophila)"			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.10146A>G	4.37:g.126372317A>G						FAT4_ENST00000335110.5_Silent_p.R1680R	p.R3382R	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN			9	10159	+			3382			Cadherin 32.		A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Silent	SNP	ENST00000394329.3	37	c.10146A>G	CCDS3732.3																																																																																				0.403	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582		49	75	0	0	0	1	0	49	75					G	126372317	A	G	126372317	2	3	435	1	0	0	0	0	0	0	0	1	5692	301	11	4		4	FAT4	4	126372317	Silent	SNP	A	TCGA-XK-AAIW-01A-11D-A41K-08	766	126372317	64781959	2459	23384											
FAT4	79633	broad.mit.edu	37	chr4	126373279	126373279	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	catccgagttttctttgctgGattttccaatgccacagtgg	7	15	9	10	1	1	0	0	0	1	0	3	2	3	1	3	2	2	2	3	2	1	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:126373279G>A	ENST00000394329.3	+	9	11121	c.11108G>A	c.(11107-11109)gGa>gAa	p.G3703E	FAT4_ENST00000335110.5_Missense_Mutation_p.G2001E	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	3703					branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						TTCTTTGCTGGATTTTCCAAT	0.458																																						ENST00000394329.3																			0				NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						c.(11107-11109)gGa>gAa		FAT atypical cadherin 4							174	164	167					4																	126373279		2203	4300	6503	SO:0001583	missense	79633				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:126373279G>A	AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"Cadherins / Cadherin-related"	23109	protein-coding gene	gene with protein product	"cadherin-related family member 11"	612411	"FAT tumor suppressor homolog 4 (Drosophila)"			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.11108G>A	4.37:g.126373279G>A	ENSP00000377862:p.Gly3703Glu					FAT4_ENST00000335110.5_Missense_Mutation_p.G2001E	p.G3703E	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN			9	11121	+			3703					A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Missense_Mutation	SNP	ENST00000394329.3	37	c.11108G>A	CCDS3732.3	.	.	.	.	.	.	.	.	.	.	G	9.628	1.135633	0.21123	.	.	ENSG00000196159	ENST00000394329;ENST00000335110	T;T	0.61158	0.13;0.13	5.77	3.91	0.45181	.	0.000000	0.33938	U	0.004406	T	0.49898	0.1584	N	0.19112	0.55	0.53688	D	0.999974	D;D;D	0.59767	0.985;0.986;0.985	P;P;P	0.54270	0.747;0.726;0.747	T	0.46721	-0.9171	10	0.02654	T	1	.	15.8584	0.79005	0.0:0.2561:0.7439:0.0	.	2001;3703;3703	Q6V0I7-2;Q6V0I7;Q6V0I7-3	.;FAT4_HUMAN;.	E	3703;2001	ENSP00000377862:G3703E;ENSP00000335169:G2001E	ENSP00000335169:G2001E	G	+	2	0	FAT4	126592729	1.000000	0.71417	0.214000	0.23707	0.976000	0.68499	5.376000	0.66178	1.400000	0.46741	0.561000	0.74099	GGA		0.458	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582		4	93	0	0	0	1	0	4	93					A	126373279	G	A	126373279	3	1	435	1	0	0	0	0	1	0	0	0	5692	1174	41	3	11142	3	FAT4	4	126373279	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	962	126373279	64780997	2460	23385											
INTU	27152	broad.mit.edu	37	chr4	128627966	128627966	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgactattccttaaagacaCgcaagcctagtccttcctgt	10	12	7	12	1	0	2	0	1	0	1	3	2	3	2	4	0	1	1	4	0	5	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:128627966C>T	ENST00000335251.6	+	12	2216	c.2113C>T	c.(2113-2115)Cgc>Tgc	p.R705C		NM_015693.3	NP_056508.2	Q9ULD6	INTU_HUMAN	inturned planar cell polarity protein	705					cilium assembly (GO:0042384)|hair follicle morphogenesis (GO:0031069)|keratinocyte differentiation (GO:0030216)|limb development (GO:0060173)|negative regulation of cell division (GO:0051782)|negative regulation of keratinocyte proliferation (GO:0010839)|nervous system development (GO:0007399)|positive regulation of smoothened signaling pathway (GO:0045880)|regulation of smoothened signaling pathway (GO:0008589)|spinal cord dorsal/ventral patterning (GO:0021513)	cytoplasm (GO:0005737)				breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	43						CTTAAAGACACGCAAGCCTAG	0.473																																						ENST00000335251.5																			0				breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	43						c.(2113-2115)Cgc>Tgc		inturned planar cell polarity protein							182	182	182					4																	128627966		2203	4300	6503	SO:0001583	missense	27152							g.chr4:128627966C>T	BC051698	CCDS34061.1	4q28.2	2013-03-05	2013-03-05	2006-10-24	ENSG00000164066	ENSG00000164066			29239	protein-coding gene	gene with protein product		610621	"PDZ domain containing 6", "inturned planar cell polarity effector homolog (Drosophila)"	PDZK6, PDZD6		10574462, 21761479	Standard	NM_015693		Approved	KIAA1284	uc003ifk.2	Q9ULD6	OTTHUMG00000161202	ENST00000335251.6:c.2113C>T	4.37:g.128627966C>T	ENSP00000334003:p.Arg705Cys						p.R705C	NM_015693.3	NP_056508.2	Q9ULD6	PDZD6_HUMAN			12	2216	+			705					A1L4N5|D6RAE6|D6RBT4|Q4W5I8|Q86V55	Missense_Mutation	SNP	ENST00000335251.6	37	c.2113C>T	CCDS34061.1	.	.	.	.	.	.	.	.	.	.	c	9.091	1.001616	0.19121	.	.	ENSG00000164066	ENST00000335251	.	.	.	4.92	3.18	0.36537	.	0.245359	0.42420	N	0.000717	T	0.55337	0.1914	L	0.56769	1.78	0.80722	D	1	B	0.24483	0.104	B	0.16289	0.015	T	0.54180	-0.8332	9	0.48119	T	0.1	-3.1137	11.1685	0.48558	0.0:0.8482:0.0:0.1518	.	705	Q9ULD6	PDZD6_HUMAN	C	705	.	ENSP00000334003:R705C	R	+	1	0	INTU	128847416	1.000000	0.71417	0.984000	0.44739	0.009000	0.06853	1.823000	0.39062	0.776000	0.33473	-0.127000	0.14921	CGC		0.473	INTU-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364147.2	XM_371707		35	49	0	0	0	1	0	35	49					T	128627966	C	T	128627966	3	4	435	1	0	0	0	0	1	0	0	0	7786	536	19	1	2159	1	INTU	4	128627966	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	2254687	128627966	62526310	2461	23386											
SLC25A31	83447	broad.mit.edu	37	chr4	128688340	128688340	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tacagggcatcattgtgtacCgagcctcttattttggagct	8	14	10	9	1	2	0	1	0	1	0	2	2	2	1	2	2	4	3	2	2	3	6			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:128688340C>T	ENST00000281154.4	+	4	766	c.598C>T	c.(598-600)Cga>Tga	p.R200*		NM_031291.2	NP_112581.1	Q9H0C2	ADT4_HUMAN	solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 31	200					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|motile cilium (GO:0031514)|nucleus (GO:0005634)	transporter activity (GO:0005215)			NS(1)|breast(1)|large_intestine(10)|lung(8)|skin(2)	22						CATTGTGTACCGAGCCTCTTA	0.358																																						ENST00000281154.4																			0				NS(1)|breast(1)|large_intestine(10)|lung(8)|skin(2)	22						c.(598-600)Cga>Tga		solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 31							184	180	182					4																	128688340		2203	4300	6503	SO:0001587	stop_gained	83447				transmembrane transport	cilium|flagellum|integral to membrane|mitochondrial inner membrane	binding|transporter activity	g.chr4:128688340C>T	AL136857	CCDS3733.1	4q28	2013-05-22			ENSG00000151475	ENSG00000151475		"Solute carriers"	25319	protein-coding gene	gene with protein product		610796				15670820	Standard	NM_031291		Approved	DKFZP434N1235, ANT4	uc003ifl.3	Q9H0C2	OTTHUMG00000133300	ENST00000281154.4:c.598C>T	4.37:g.128688340C>T	ENSP00000281154:p.Arg200*						p.R200*	NM_031291.2	NP_112581.1	Q9H0C2	ADT4_HUMAN			4	766	+			200						Nonsense_Mutation	SNP	ENST00000281154.4	37	c.598C>T	CCDS3733.1	.	.	.	.	.	.	.	.	.	.	C	35	5.535700	0.96460	.	.	ENSG00000151475	ENST00000281154	.	.	.	5.18	4.34	0.51931	.	0.000000	0.43416	D	0.000571	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-17.1226	7.7708	0.29008	0.1613:0.7552:0.0:0.0834	.	.	.	.	X	200	.	ENSP00000281154:R200X	R	+	1	2	SLC25A31	128907790	0.999000	0.42202	1.000000	0.80357	0.998000	0.95712	0.770000	0.26618	1.411000	0.46957	0.591000	0.81541	CGA		0.358	SLC25A31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257094.2	NM_031291		7	141	0	0	0	1	0	7	141					T	128688340	C	T	128688340	4	4	435	1	0	0	0	0	0	1	0	0	14495	644	23	2	612	2	SLC25A31	4	128688340	Nonsense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	60374	128688340	62465936	2462	23387											
HSPA4L	22824	broad.mit.edu	37	chr4	128732695	128732695	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggaatcttcagtgtggctagCgcatcagtaattgagaagca	12	10	12	7	1	3	1	2	1	1	1	3	3	3	2	0	2	2	4	0	2	4	4	rs143377960		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:128732695C>T	ENST00000296464.4	+	12	1893	c.1482C>T	c.(1480-1482)agC>agT	p.S494S	HSPA4L_ENST00000505726.1_Silent_p.S468S|HSPA4L_ENST00000508776.1_Silent_p.S494S|HSPA4L_ENST00000439123.2_Silent_p.S525S	NM_014278.2	NP_055093.2	O95757	HS74L_HUMAN	heat shock 70kDa protein 4-like	494					protein folding (GO:0006457)|response to unfolded protein (GO:0006986)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)	p.S494S(1)		central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	31						GTGTGGCTAGCGCATCAGTAA	0.373																																						ENST00000296464.3																			1	Substitution - coding silent(1)	p.S494S(1)	endometrium(1)	central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	31						c.(1480-1482)agC>agT		heat shock 70kDa protein 4-like							98	93	95					4																	128732695		2203	4300	6503	SO:0001819	synonymous_variant	22824				protein folding|response to unfolded protein	cytoplasm|nucleus	ATP binding|protein binding	g.chr4:128732695C>T	AB023421	CCDS3734.1	4q28	2011-09-07			ENSG00000164070	ENSG00000164070		"Heat shock proteins / HSP70"	17041	protein-coding gene	gene with protein product						10524232	Standard	NM_014278		Approved	APG-1, Osp94, HSPH3	uc003ifm.3	O95757	OTTHUMG00000133302	ENST00000296464.4:c.1482C>T	4.37:g.128732695C>T						HSPA4L_ENST00000505726.1_Silent_p.S468S|HSPA4L_ENST00000439123.2_Silent_p.S525S|HSPA4L_ENST00000508776.1_Silent_p.S494S	p.S494S	NM_014278.2	NP_055093.2	O95757	HS74L_HUMAN			12	1893	+			494					A2ICT2|Q4W5M5|Q8IWA2	Silent	SNP	ENST00000296464.4	37	c.1482C>T	CCDS3734.1																																																																																				0.373	HSPA4L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257096.3	NM_014278		16	33	0	0	0	1	0	16	33					T	128732695	C	T	128732695	2	4	435	1	0	0	0	0	0	0	0	1	7413	767	27	1		1	HSPA4L	4	128732695	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	44355	128732695	62421581	2463	23388											
HSPA4L	22824	broad.mit.edu	37	chr4	128748471	128748471	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgttaacagaaatacggccaGcctattcaaatgaagtacat	16	10	7	8	1	1	2	1	1	0	1	1	2	1	2	2	1	4	2	2	1	7	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:128748471G>A	ENST00000296464.4	+	17	2469	c.2058G>A	c.(2056-2058)caG>caA	p.Q686Q	HSPA4L_ENST00000505726.1_Silent_p.Q660Q|HSPA4L_ENST00000508776.1_Silent_p.Q686Q|HSPA4L_ENST00000439123.2_Silent_p.Q717Q	NM_014278.2	NP_055093.2	O95757	HS74L_HUMAN	heat shock 70kDa protein 4-like	686					protein folding (GO:0006457)|response to unfolded protein (GO:0006986)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)			central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	31						AATACGGCCAGCCTATTCAAA	0.318																																						ENST00000296464.3																			0				central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	31						c.(2056-2058)caG>caA		heat shock 70kDa protein 4-like							83	83	83					4																	128748471		2203	4300	6503	SO:0001819	synonymous_variant	22824				protein folding|response to unfolded protein	cytoplasm|nucleus	ATP binding|protein binding	g.chr4:128748471G>A	AB023421	CCDS3734.1	4q28	2011-09-07			ENSG00000164070	ENSG00000164070		"Heat shock proteins / HSP70"	17041	protein-coding gene	gene with protein product						10524232	Standard	NM_014278		Approved	APG-1, Osp94, HSPH3	uc003ifm.3	O95757	OTTHUMG00000133302	ENST00000296464.4:c.2058G>A	4.37:g.128748471G>A						HSPA4L_ENST00000505726.1_Silent_p.Q660Q|HSPA4L_ENST00000439123.2_Silent_p.Q717Q|HSPA4L_ENST00000508776.1_Silent_p.Q686Q	p.Q686Q	NM_014278.2	NP_055093.2	O95757	HS74L_HUMAN			17	2469	+			686					A2ICT2|Q4W5M5|Q8IWA2	Silent	SNP	ENST00000296464.4	37	c.2058G>A	CCDS3734.1																																																																																				0.318	HSPA4L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257096.3	NM_014278		21	39	0	0	0	1	0	21	39					A	128748471	G	A	128748471	2	1	435	1	0	0	0	0	0	0	0	1	7413	962	34	3		3	HSPA4L	4	128748471	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	15776	128748471	62405805	2464	23389											
PLK4	10733	broad.mit.edu	37	chr4	128807514	128807514	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgtatttccaaagaataaaaGttcaactgatttttcttctt	13	18	4	6	0	3	2	1	1	2	1	4	2	4	2	1	0	1	2	1	0	6	8			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:128807514G>A	ENST00000270861.5	+	5	1263	c.989G>A	c.(988-990)aGt>aAt	p.S330N	PLK4_ENST00000515069.1_Missense_Mutation_p.S330N|PLK4_ENST00000513090.1_Missense_Mutation_p.S298N|PLK4_ENST00000507249.1_Missense_Mutation_p.S330N|PLK4_ENST00000514379.1_Missense_Mutation_p.S289N	NM_014264.4	NP_055079.3	O00444	PLK4_HUMAN	polo-like kinase 4	330					centriole replication (GO:0007099)|de novo centriole assembly (GO:0098535)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|positive regulation of centriole replication (GO:0046601)|protein phosphorylation (GO:0006468)|trophoblast giant cell differentiation (GO:0060707)	centriole (GO:0005814)|centrosome (GO:0005813)|cytosol (GO:0005829)|deuterosome (GO:0098536)|nucleolus (GO:0005730)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	31						AAGAATAAAAGTTCAACTGAT	0.348																																					Colon(135;508 1718 19061 31832 42879)	ENST00000270861.5																			0				central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	31						c.(988-990)aGt>aAt		polo-like kinase 4							42	44	43					4																	128807514		2198	4297	6495	SO:0001583	missense	0				G2/M transition of mitotic cell cycle|positive regulation of centriole replication|trophoblast giant cell differentiation	centriole|cleavage furrow|cytosol|nucleolus	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr4:128807514G>A	Y13115	CCDS3735.1, CCDS54803.1, CCDS54804.1	4q27-q28	2013-01-18	2010-06-24	2004-01-28	ENSG00000142731	ENSG00000142731			11397	protein-coding gene	gene with protein product		605031	"serine/threonine kinase 18", "polo-like kinase 4 (Drosophila)"	STK18			Standard	NM_014264		Approved	Sak	uc003ifo.3	O00444	OTTHUMG00000133301	ENST00000270861.5:c.989G>A	4.37:g.128807514G>A	ENSP00000270861:p.Ser330Asn					PLK4_ENST00000507249.1_Missense_Mutation_p.S330N|PLK4_ENST00000515069.1_Missense_Mutation_p.S330N|PLK4_ENST00000513090.1_Missense_Mutation_p.S298N|PLK4_ENST00000514379.1_Missense_Mutation_p.S289N	p.S330N	NM_014264.4	NP_055079.3	O00444	PLK4_HUMAN			5	1263	+			330					B2RAL0|B7Z837|B7Z8G7|Q8IYF0|Q96Q95|Q9UD84|Q9UDE2	Missense_Mutation	SNP	ENST00000270861.5	37	c.989G>A	CCDS3735.1	.	.	.	.	.	.	.	.	.	.	G	1.768	-0.485056	0.04352	.	.	ENSG00000142731	ENST00000270861;ENST00000515069;ENST00000513090;ENST00000507249;ENST00000514379	T;T;T;T;T	0.68331	-0.17;-0.19;-0.32;-0.17;-0.25	5.2	-1.77	0.07982	.	0.425847	0.28730	N	0.014339	T	0.17109	0.0411	N	0.00162	-1.95	0.09310	N	0.999997	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.40117	-0.9580	10	0.12103	T	0.63	-7.9322	1.1739	0.01831	0.4969:0.1254:0.137:0.2408	.	298;330	O00444-2;O00444	.;PLK4_HUMAN	N	330;330;298;330;289	ENSP00000270861:S330N;ENSP00000421774:S330N;ENSP00000427554:S298N;ENSP00000423412:S330N;ENSP00000423582:S289N	ENSP00000270861:S330N	S	+	2	0	PLK4	129026964	0.973000	0.33851	0.511000	0.27724	0.501000	0.33797	1.350000	0.34010	-0.329000	0.08527	-0.302000	0.09304	AGT		0.348	PLK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257095.3			20	31	0	0	0	1	0	20	31					A	128807514	G	A	128807514	3	1	435	1	0	0	0	0	1	0	0	0	12098	1029	36	3	1007	3	PLK4	4	128807514	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	59043	128807514	62346762	2465	23390											
PLK4	10733	broad.mit.edu	37	chr4	128812837	128812837	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cagctttgacaatttaccagGtatgtgaatttaccagggaa	13	12	9	7	0	0	2	0	2	0	0	0	3	0	3	2	2	3	2	2	2	6	6			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:128812837G>A	ENST00000270861.5	+	9	2312		c.e9+1		PLK4_ENST00000515069.1_Splice_Site|PLK4_ENST00000513090.1_Splice_Site|RNU6-583P_ENST00000516012.1_RNA|PLK4_ENST00000507249.1_Splice_Site|PLK4_ENST00000514379.1_Splice_Site	NM_014264.4	NP_055079.3	O00444	PLK4_HUMAN	polo-like kinase 4						centriole replication (GO:0007099)|de novo centriole assembly (GO:0098535)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|positive regulation of centriole replication (GO:0046601)|protein phosphorylation (GO:0006468)|trophoblast giant cell differentiation (GO:0060707)	centriole (GO:0005814)|centrosome (GO:0005813)|cytosol (GO:0005829)|deuterosome (GO:0098536)|nucleolus (GO:0005730)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	31						AATTTACCAGGTATGTGAATT	0.313																																					Colon(135;508 1718 19061 31832 42879)	ENST00000270861.5																			0				central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	31						c.e9+1		polo-like kinase 4							76	82	80					4																	128812837		2203	4297	6500	SO:0001630	splice_region_variant	0				G2/M transition of mitotic cell cycle|positive regulation of centriole replication|trophoblast giant cell differentiation	centriole|cleavage furrow|cytosol|nucleolus	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr4:128812837G>A	Y13115	CCDS3735.1, CCDS54803.1, CCDS54804.1	4q27-q28	2013-01-18	2010-06-24	2004-01-28	ENSG00000142731	ENSG00000142731			11397	protein-coding gene	gene with protein product		605031	"serine/threonine kinase 18", "polo-like kinase 4 (Drosophila)"	STK18			Standard	NM_014264		Approved	Sak	uc003ifo.3	O00444	OTTHUMG00000133301	ENST00000270861.5:c.2038+1G>A	4.37:g.128812837G>A						PLK4_ENST00000507249.1_Splice_Site|PLK4_ENST00000515069.1_Splice_Site|PLK4_ENST00000513090.1_Splice_Site|PLK4_ENST00000514379.1_Splice_Site		NM_014264.4	NP_055079.3	O00444	PLK4_HUMAN			9	2312	+								B2RAL0|B7Z837|B7Z8G7|Q8IYF0|Q96Q95|Q9UD84|Q9UDE2	Splice_Site	SNP	ENST00000270861.5	37		CCDS3735.1	.	.	.	.	.	.	.	.	.	.	G	14.88	2.668517	0.47677	.	.	ENSG00000142731	ENST00000270861;ENST00000515069;ENST00000513090;ENST00000507249;ENST00000514379	.	.	.	4.93	4.93	0.64822	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.3308	0.90268	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PLK4	129032287	1.000000	0.71417	1.000000	0.80357	0.438000	0.31896	8.189000	0.89712	2.548000	0.85928	0.467000	0.42956	.		0.313	PLK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257095.3		Intron	40	72	0	0	0	1	0	40	72					A	128812837	G	A	128812837	5	1	435	1	0	0	0	0	0	0	1	0	12098	1275	44	3	2073	3	PLK4	4	128812837	Splice_Site	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	5323	128812837	62341439	2466	23391											
PHF17	79960	broad.mit.edu	37	chr4	129783027	129783027	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcttggcaagggggctgcaCaggagaatggggcccctgag	8	6	18	9	0	1	2	0	1	1	1	1	3	1	2	2	6	1	3	2	6	2	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:129783027C>G	ENST00000226319.6	+	9	1430	c.1150C>G	c.(1150-1152)Cag>Gag	p.Q384E	PHF17_ENST00000511647.1_Missense_Mutation_p.Q384E|PHF17_ENST00000512960.1_Missense_Mutation_p.Q384E|PHF17_ENST00000413543.2_Missense_Mutation_p.Q384E|PHF17_ENST00000452328.2_Missense_Mutation_p.Q372E	NM_199320.2	NP_955352.1														NS(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29						GGGGGCTGCACAGGAGAATGG	0.577																																						ENST00000226319.6																			0				NS(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29						c.(1150-1152)Cag>Gag									82	96	91					4																	129783027		2203	4300	6503	SO:0001583	missense	0				apoptosis|histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation|negative regulation of cell growth|regulation of transcription, DNA-dependent|response to stress|transcription, DNA-dependent	histone acetyltransferase complex|mitochondrion	protein binding|zinc ion binding	g.chr4:129783027C>G																												ENST00000226319.6:c.1150C>G	4.37:g.129783027C>G	ENSP00000226319:p.Gln384Glu					PHF17_ENST00000511647.1_Missense_Mutation_p.Q384E|PHF17_ENST00000512960.1_Missense_Mutation_p.Q384E|PHF17_ENST00000413543.2_Missense_Mutation_p.Q384E|PHF17_ENST00000452328.2_Missense_Mutation_p.Q372E	p.Q384E	NM_199320.2	NP_955352.1	Q6IE81	JADE1_HUMAN			9	1430	+			384						Missense_Mutation	SNP	ENST00000226319.6	37	c.1150C>G	CCDS34062.1	.	.	.	.	.	.	.	.	.	.	C	0.007	-1.950547	0.00475	.	.	ENSG00000077684	ENST00000226319;ENST00000511647;ENST00000452328;ENST00000512960;ENST00000535321;ENST00000413543	T;T;T;T;T	0.39997	1.2;1.05;1.2;1.2;1.05	5.01	4.16	0.48862	.	0.377550	0.23997	N	0.042516	T	0.30572	0.0769	L	0.34521	1.04	0.25759	N	0.984968	B;B;B	0.09022	0.001;0.0;0.002	B;B;B	0.17098	0.015;0.003;0.017	T	0.15435	-1.0437	9	.	.	.	.	10.5908	0.45308	0.1498:0.7061:0.1442:0.0	.	372;384;384	Q6IE81-2;Q6IE81;Q6IE81-3	.;JADE1_HUMAN;.	E	384;384;372;384;384;384	ENSP00000226319:Q384E;ENSP00000423737:Q384E;ENSP00000388015:Q372E;ENSP00000425730:Q384E;ENSP00000404211:Q384E	.	Q	+	1	0	PHF17	130002477	0.975000	0.34042	0.292000	0.24919	0.031000	0.12232	2.390000	0.44416	1.318000	0.45170	0.655000	0.94253	CAG		0.577	PHF17-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364280.1			7	83	0	0	0	1	0	7	83					G	129783027	C	G	129783027	3	3	435	1	0	0	0	0	1	0	0	0	11828	479	17	5	1180	5	PHF17	4	129783027	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	970190	129783027	61371249	2467	23392											
SCLT1	132320	broad.mit.edu	37	chr4	129965200	129965200	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtctccttctccttggcagaCagctttctataaaagaatgt	10	14	7	10	0	3	2	0	0	3	2	5	2	3	2	2	1	1	2	2	1	4	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:129965200C>T	ENST00000281142.5	-	3	612	c.109G>A	c.(109-111)Gtc>Atc	p.V37I	SCLT1_ENST00000503401.1_Missense_Mutation_p.V14I|SCLT1_ENST00000503215.1_Missense_Mutation_p.V14I|SCLT1_ENST00000506368.1_Missense_Mutation_p.V37I|SCLT1_ENST00000434680.1_Missense_Mutation_p.V37I|SCLT1_ENST00000511426.1_Missense_Mutation_p.V37I|SCLT1_ENST00000439369.2_Missense_Mutation_p.V37I	NM_144643.2	NP_653244.2	Q96NL6	SCLT1_HUMAN	sodium channel and clathrin linker 1	37					cilium assembly (GO:0042384)|clustering of voltage-gated sodium channels (GO:0045162)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary transition fiber (GO:0097539)|clathrin complex (GO:0071439)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule cytoskeleton (GO:0015630)	sodium channel regulator activity (GO:0017080)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1)	29						CCTTGGCAGACAGCTTTCTAT	0.274																																						ENST00000281142.5																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1)	29						c.(109-111)Gtc>Atc		sodium channel and clathrin linker 1							73	79	77					4																	129965200		2202	4292	6494	SO:0001583	missense	132320					centrosome		g.chr4:129965200C>T	AK055217	CCDS3740.1	4q28.2	2008-05-02			ENSG00000151466	ENSG00000151466			26406	protein-coding gene	gene with protein product		611399				15797711	Standard	XM_005262732		Approved	hCAP-1A, FLJ30655	uc003igp.2	Q96NL6	OTTHUMG00000133346	ENST00000281142.5:c.109G>A	4.37:g.129965200C>T	ENSP00000281142:p.Val37Ile					SCLT1_ENST00000506368.1_Missense_Mutation_p.V37I|SCLT1_ENST00000434680.1_Missense_Mutation_p.V37I|SCLT1_ENST00000439369.2_Missense_Mutation_p.V37I|SCLT1_ENST00000503215.1_Missense_Mutation_p.V14I|SCLT1_ENST00000503401.1_Missense_Mutation_p.V14I|SCLT1_ENST00000511426.1_Missense_Mutation_p.V37I	p.V37I	NM_144643.2	NP_653244.2	Q96NL6	SCLT1_HUMAN			3	612	-			37					A4QN04|Q0VAH2|Q6P2M4	Missense_Mutation	SNP	ENST00000281142.5	37	c.109G>A	CCDS3740.1	.	.	.	.	.	.	.	.	.	.	C	4.286	0.052344	0.08291	.	.	ENSG00000151466	ENST00000281142;ENST00000434680;ENST00000439369;ENST00000503215;ENST00000506368;ENST00000511426;ENST00000503401	T	0.44881	0.91	4.08	2.27	0.28462	.	0.417657	0.20872	N	0.084145	T	0.22166	0.0534	L	0.29908	0.895	0.26011	N	0.981998	B;P;B;B;B	0.37955	0.122;0.612;0.089;0.021;0.206	B;B;B;B;B	0.30401	0.06;0.115;0.023;0.023;0.086	T	0.08848	-1.0702	9	.	.	.	0.244	4.3418	0.11113	0.2246:0.6542:0.0:0.1213	.	37;37;37;37;37	Q96NL6-3;Q96NL6-4;D6RBA6;Q96NL6-2;Q96NL6	.;.;.;.;SCLT1_HUMAN	I	37;37;37;14;37;37;14	ENSP00000281142:V37I	.	V	-	1	0	SCLT1	130184650	0.087000	0.21565	0.653000	0.29593	0.011000	0.07611	-0.047000	0.11963	0.457000	0.26962	0.650000	0.86243	GTC		0.274	SCLT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257176.2	NM_144643		12	23	0	0	0	1	0	12	23					T	129965200	C	T	129965200	3	4	435	1	0	0	0	0	1	0	0	0	13906	478	17	3	2033	3	SCLT1	4	129965200	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	182173	129965200	61189076	2468	23393											
PCDH10	57575	broad.mit.edu	37	chr4	134073055	134073055	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgcaacgggactccagcgcGtgaggtgctgccccgctcgg	5	5	16	15	6	0	1	0	1	0	0	2	2	1	2	3	3	4	3	3	3	1	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:134073055G>A	ENST00000264360.5	+	1	2586	c.1760G>A	c.(1759-1761)cGt>cAt	p.R587H	RP11-9G1.3_ENST00000505289.1_lincRNA	NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	587	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		ACTCCAGCGCGTGAGGTGCTG	0.662																																						ENST00000264360.4																			0				NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136						c.(1759-1761)cGt>cAt		protocadherin 10							21	25	24					4																	134073055		2105	4193	6298	SO:0001583	missense	57575				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:134073055G>A	AB037821	CCDS34063.1, CCDS75192.1	4q28.3	2010-01-26				ENSG00000138650		"Cadherins / Protocadherins : Non-clustered"	13404	protein-coding gene	gene with protein product		608286				10835267	Standard	NM_020815		Approved	OL-PCDH, KIAA1400	uc003iha.3	Q9P2E7		ENST00000264360.5:c.1760G>A	4.37:g.134073055G>A	ENSP00000264360:p.Arg587His						p.R587H	NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN		LUSC - Lung squamous cell carcinoma(193;0.227)	1	2586	+			587			Cadherin 6.		Q4W5F6|Q96SF0	Missense_Mutation	SNP	ENST00000264360.5	37	c.1760G>A	CCDS34063.1	.	.	.	.	.	.	.	.	.	.	G	12.48	1.950035	0.34377	.	.	ENSG00000138650	ENST00000264360;ENST00000394248	T	0.38887	1.11	4.5	4.5	0.54988	Cadherin-like (1);	0.000000	0.46145	D	0.000319	T	0.29061	0.0722	N	0.16368	0.405	0.38017	D	0.934719	D;P	0.56746	0.977;0.858	P;B	0.44732	0.459;0.091	T	0.16364	-1.0405	10	0.45353	T	0.12	.	10.6298	0.45530	0.0885:0.0:0.9115:0.0	.	587;587	Q9P2E7;Q96SF0	PCD10_HUMAN;.	H	587	ENSP00000264360:R587H	ENSP00000264360:R587H	R	+	2	0	PCDH10	134292505	0.000000	0.05858	1.000000	0.80357	0.133000	0.20885	0.291000	0.18994	2.325000	0.78763	0.655000	0.94253	CGT		0.662	PCDH10-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000364457.2	NM_032961		15	18	0	0	0	1	0	15	18					A	134073055	G	A	134073055	3	1	435	1	0	0	0	0	1	0	0	0	11507	1145	40	1	1762	1	PCDH10	4	134073055	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	4107855	134073055	57081221	2469	23394											
PCDH18	54510	broad.mit.edu	37	chr4	138442183	138442183	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aaatgcttcgctaaaatctcCtagctctggcggacatcttg	10	12	8	11	2	3	0	0	0	3	0	5	1	3	1	1	2	2	3	1	2	4	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:138442183C>T	ENST00000344876.4	-	4	3794	c.3408G>A	c.(3406-3408)taG>taA	p.*1136*	PCDH18_ENST00000510305.1_Silent_p.*347*|PCDH18_ENST00000507846.1_Silent_p.*915*|PCDH18_ENST00000511115.1_Silent_p.*316*|PCDH18_ENST00000412923.2_Silent_p.*1135*	NM_019035.3	NP_061908.1	Q9HCL0	PCD18_HUMAN	protocadherin 18	0					brain development (GO:0007420)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					CTAAAATCTCCTAGCTCTGGC	0.423																																						ENST00000344876.4																			0				NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86						c.(3406-3408)taG>taA		protocadherin 18							48	46	47					4																	138442183		2203	4300	6503	SO:0001819	synonymous_variant	54510				brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:138442183C>T	AL137471	CCDS34064.1, CCDS75193.1	4q28.3	2010-01-26			ENSG00000189184	ENSG00000189184		"Cadherins / Protocadherins : Non-clustered"	14268	protein-coding gene	gene with protein product		608287				10835267, 11549318	Standard	XM_005263070		Approved	KIAA1562, PCDH68L	uc003ihe.4	Q9HCL0	OTTHUMG00000161348	ENST00000344876.4:c.3408G>A	4.37:g.138442183C>T						PCDH18_ENST00000412923.2_Silent_p.*1135*|PCDH18_ENST00000507846.1_Silent_p.*915*|PCDH18_ENST00000510305.1_Silent_p.*347*|PCDH18_ENST00000511115.1_Silent_p.*316*	p.*1136*	NM_019035.3	NP_061908.1	Q9HCL0	PCD18_HUMAN			4	3794	-	all_hematologic(180;0.24)		0					A8K7K3|B7ZKT1|Q52LS2	Silent	SNP	ENST00000344876.4	37	c.3408G>A	CCDS34064.1																																																																																				0.423	PCDH18-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364614.1	NM_019035		16	29	0	0	0	1	0	16	29					T	138442183	C	T	138442183	2	4	435	1	0	0	0	0	0	0	0	1	11513	692	24	3		3	PCDH18	4	138442183	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	4369128	138442183	52712093	2470	23395											
SLC7A11	23657	broad.mit.edu	37	chr4	139106350	139106350	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccacatttgtcagcacataGccaatggtgacaatggccat	12	9	9	11	0	1	1	1	1	0	0	1	1	1	1	3	2	2	1	3	2	3	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:139106350G>A	ENST00000280612.5	-	7	1119	c.840C>T	c.(838-840)ggC>ggT	p.G280G		NM_014331.3	NP_055146.1	Q9UPY5	XCT_HUMAN	solute carrier family 7 (anionic amino acid transporter light chain, xc- system), member 11	280					amino acid transport (GO:0006865)|blood coagulation (GO:0007596)|brain development (GO:0007420)|ion transport (GO:0006811)|L-glutamate transport (GO:0015813)|lens fiber cell differentiation (GO:0070306)|leukocyte migration (GO:0050900)|platelet aggregation (GO:0070527)|response to nicotine (GO:0035094)|response to oxidative stress (GO:0006979)|response to toxic substance (GO:0009636)|transmembrane transport (GO:0055085)	cell surface (GO:0009986)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)	cystine:glutamate antiporter activity (GO:0015327)			breast(1)|endometrium(4)|kidney(3)|large_intestine(3)|liver(1)|lung(3)|prostate(1)|skin(2)	18	all_hematologic(180;0.166)				Acetylcysteine(DB06151)|L-Cystine(DB00138)|Riluzole(DB00740)|Rosuvastatin(DB01098)|Sulfasalazine(DB00795)|Tauroursodeoxycholic acid(DB08834)	TCAGCACATAGCCAATGGTGA	0.423																																						ENST00000280612.5																			0				breast(1)|endometrium(4)|kidney(3)|large_intestine(3)|liver(1)|lung(3)|prostate(1)|skin(2)	18						c.(838-840)ggC>ggT		solute carrier family 7 (anionic amino acid transporter light chain, xc- system), member 11	L-Cystine(DB00138)|L-Glutamic Acid(DB00142)|Sulfasalazine(DB00795)						174	141	152					4																	139106350		2203	4300	6503	SO:0001819	synonymous_variant	23657				blood coagulation|cellular nitrogen compound metabolic process|leukocyte migration|response to toxin	integral to membrane|plasma membrane	cystine:glutamate antiporter activity|protein binding	g.chr4:139106350G>A	AB026891	CCDS3742.1	4q28-q32	2013-05-22	2011-07-12		ENSG00000151012	ENSG00000151012		"Solute carriers"	11059	protein-coding gene	gene with protein product		607933				10206947, 12763038	Standard	XM_005262875		Approved	xCT	uc021xrw.1	Q9UPY5	OTTHUMG00000133396	ENST00000280612.5:c.840C>T	4.37:g.139106350G>A							p.G280G	NM_014331.3	NP_055146.1	Q9UPY5	XCT_HUMAN			7	1119	-	all_hematologic(180;0.166)		280					A8K2U4	Silent	SNP	ENST00000280612.5	37	c.840C>T	CCDS3742.1																																																																																				0.423	SLC7A11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257251.2			41	83	0	0	0	1	0	41	83					A	139106350	G	A	139106350	2	1	435	1	0	0	0	0	0	0	0	1	14694	958	34	3		3	SLC7A11	4	139106350	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	664167	139106350	52047926	2471	23396											
NAA15	80155	broad.mit.edu	37	chr4	140264115	140264115	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	aatttaggaaaacacaacagGtaataactagaagccatttt	19	10	6	6	0	0	1	0	0	0	1	0	2	0	2	1	2	4	1	1	2	9	7			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:140264115G>A	ENST00000296543.5	+	5	860		c.e5+1		NAA15_ENST00000398947.1_Splice_Site|NAA15_ENST00000480277.2_Splice_Site	NM_057175.3	NP_476516.1	Q9BXJ9	NAA15_HUMAN	N(alpha)-acetyltransferase 15, NatA auxiliary subunit						angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|N-terminal protein amino acid acetylation (GO:0006474)|negative regulation of apoptotic process (GO:0043066)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|NatA complex (GO:0031415)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	N-acetyltransferase activity (GO:0008080)|poly(A) RNA binding (GO:0044822)|ribosome binding (GO:0043022)			NS(1)|endometrium(3)|large_intestine(7)|liver(2)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	29						AACACAACAGGTAATAACTAG	0.303																																						ENST00000296543.5																			0				NS(1)|endometrium(3)|large_intestine(7)|liver(2)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	29						c.e5+1		N(alpha)-acetyltransferase 15, NatA auxiliary subunit							70	66	67					4																	140264115		1812	4077	5889	SO:0001630	splice_region_variant	80155				angiogenesis|cell differentiation|N-terminal protein amino acid acetylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|transcription factor complex	protein binding	g.chr4:140264115G>A	AY039242	CCDS43270.1	4q31.1	2010-01-14	2010-01-14	2010-01-14	ENSG00000164134	ENSG00000164134		"N(alpha)-acetyltransferase subunits"	30782	protein-coding gene	gene with protein product		608000	"NMDA receptor regulated 1"	NARG1		12140756, 11478804, 19660095	Standard	XM_005263236		Approved	TBDN100, NATH, FLJ13340	uc003ihu.1	Q9BXJ9	OTTHUMG00000137363	ENST00000296543.5:c.537+1G>A	4.37:g.140264115G>A						NAA15_ENST00000480277.2_Splice_Site|NAA15_ENST00000398947.1_Splice_Site		NM_057175.3	NP_476516.1	Q9BXJ9	NAA15_HUMAN			5	860	+								D3DNY6|Q52LG9|Q8IWH4|Q8NEV2|Q9H8P6	Splice_Site	SNP	ENST00000296543.5	37		CCDS43270.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.182046	0.78677	.	.	ENSG00000164134	ENST00000296543;ENST00000544077;ENST00000398947	.	.	.	4.69	4.69	0.59074	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.162	0.89710	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	NAA15	140483565	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	9.075000	0.94004	2.590000	0.87494	0.467000	0.42956	.		0.303	NAA15-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000267839.2	NM_057175	Intron	14	16	0	0	0	1	0	14	16					A	140264115	G	A	140264115	5	1	435	1	0	0	0	0	0	0	1	0	10118	1275	44	3	556	3	NAA15	4	140264115	Splice_Site	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	1157765	140264115	50890161	2472	23397											
NAA15	80155	broad.mit.edu	37	chr4	140306049	140306049	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attaaaacaagaaatgaatcGtctttttggagcaacgaatc	17	11	7	6	2	1	2	0	1	1	1	3	4	1	3	0	1	3	1	0	1	7	3	rs192326816	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:140306049G>A	ENST00000296543.5	+	18	2542	c.2219G>A	c.(2218-2220)cGt>cAt	p.R740H	NAA15_ENST00000515576.1_5'Flank|NAA15_ENST00000398947.1_Missense_Mutation_p.R739H	NM_057175.3	NP_476516.1	Q9BXJ9	NAA15_HUMAN	N(alpha)-acetyltransferase 15, NatA auxiliary subunit	740	Interaction with HYPK.				angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|N-terminal protein amino acid acetylation (GO:0006474)|negative regulation of apoptotic process (GO:0043066)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|NatA complex (GO:0031415)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	N-acetyltransferase activity (GO:0008080)|poly(A) RNA binding (GO:0044822)|ribosome binding (GO:0043022)			NS(1)|endometrium(3)|large_intestine(7)|liver(2)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	29						GAAATGAATCGTCTTTTTGGA	0.279													G|||	2	0.000399361	8e-04	0.0014	5008	,	,		16476	0		0	False		,,,				2504	0					ENST00000296543.5																			0				NS(1)|endometrium(3)|large_intestine(7)|liver(2)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	29						c.(2218-2220)cGt>cAt		N(alpha)-acetyltransferase 15, NatA auxiliary subunit							53	50	51					4																	140306049		1801	4071	5872	SO:0001583	missense	80155				angiogenesis|cell differentiation|N-terminal protein amino acid acetylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|transcription factor complex	protein binding	g.chr4:140306049G>A	AY039242	CCDS43270.1	4q31.1	2010-01-14	2010-01-14	2010-01-14	ENSG00000164134	ENSG00000164134		"N(alpha)-acetyltransferase subunits"	30782	protein-coding gene	gene with protein product		608000	"NMDA receptor regulated 1"	NARG1		12140756, 11478804, 19660095	Standard	XM_005263236		Approved	TBDN100, NATH, FLJ13340	uc003ihu.1	Q9BXJ9	OTTHUMG00000137363	ENST00000296543.5:c.2219G>A	4.37:g.140306049G>A	ENSP00000296543:p.Arg740His					NAA15_ENST00000398947.1_Missense_Mutation_p.R739H	p.R740H	NM_057175.3	NP_476516.1	Q9BXJ9	NAA15_HUMAN			18	2542	+			740					D3DNY6|Q52LG9|Q8IWH4|Q8NEV2|Q9H8P6	Missense_Mutation	SNP	ENST00000296543.5	37	c.2219G>A	CCDS43270.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	23.0	4.360087	0.82353	.	.	ENSG00000164134	ENST00000296543;ENST00000544077;ENST00000398947	T;T	0.44482	0.92;0.92	5.79	5.79	0.91817	.	0.000000	0.85682	D	0.000000	T	0.49609	0.1567	M	0.65975	2.015	0.80722	D	1	P	0.47762	0.9	B	0.43331	0.416	T	0.52026	-0.8630	10	0.51188	T	0.08	-10.0956	20.0411	0.97590	0.0:0.0:1.0:0.0	.	740	Q9BXJ9	NAA15_HUMAN	H	740;614;739	ENSP00000296543:R740H;ENSP00000381920:R739H	ENSP00000296543:R740H	R	+	2	0	NAA15	140525499	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.229000	0.78088	2.739000	0.93911	0.655000	0.94253	CGT		0.279	NAA15-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000267839.2	NM_057175		23	24	0	0	0	1	0	23	24					A	140306049	G	A	140306049	3	1	435	1	0	0	0	0	1	0	0	0	10118	1145	40	1	2289	1	NAA15	4	140306049	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	41934	140306049	50848227	2473	23398											
SETD7	80854	broad.mit.edu	37	chr4	140439119	140439119	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tacttggatacgtggttataGggctcaggcacatcaatgac	11	11	11	8	1	2	1	2	1	0	0	2	2	2	2	0	4	2	3	0	4	5	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:140439119G>T	ENST00000274031.3	-	7	1476	c.840C>A	c.(838-840)ccC>ccA	p.P280P	SETD7_ENST00000506866.2_Silent_p.P280P	NM_030648.2	NP_085151.1	Q8WTS6	SETD7_HUMAN	SET domain containing (lysine methyltransferase) 7	280	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				chromatin modification (GO:0016568)|peptidyl-lysine dimethylation (GO:0018027)|peptidyl-lysine monomethylation (GO:0018026)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)|p53 binding (GO:0002039)|protein-lysine N-methyltransferase activity (GO:0016279)			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	8	all_hematologic(180;0.156)					CGTGGTTATAGGGCTCAGGCA	0.493																																						ENST00000274031.3																			0				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	8						c.(838-840)ccC>ccA		SET domain containing (lysine methyltransferase) 7							206	174	185					4																	140439119		2203	4300	6503	SO:0001819	synonymous_variant	80854				peptidyl-lysine dimethylation|peptidyl-lysine monomethylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	histone-lysine N-methyltransferase activity|p53 binding	g.chr4:140439119G>T	AB051504	CCDS3748.1	4q31.1	2011-07-01			ENSG00000145391	ENSG00000145391		"Chromatin-modifying enzymes / K-methyltransferases"	30412	protein-coding gene	gene with protein product		606594				11850410, 11779497	Standard	NM_030648		Approved	KIAA1717, SET7, SET7/9, Set9, KMT7	uc003ihw.3	Q8WTS6	OTTHUMG00000133385	ENST00000274031.3:c.840C>A	4.37:g.140439119G>T						SETD7_ENST00000506866.2_Silent_p.P280P	p.P280P	NM_030648.2	NP_085151.1	Q8WTS6	SETD7_HUMAN			7	1476	-	all_hematologic(180;0.156)		280			SET.		B5WWL3|Q0VAH3|Q4W5A9|Q9C0E6	Silent	SNP	ENST00000274031.3	37	c.840C>A	CCDS3748.1																																																																																				0.493	SETD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257236.1	NM_030648		12	60	1	0	0.00136819	1	0.00138908	12	60					T	140439119	G	T	140439119	2	4	435	1	0	0	0	0	0	0	0	1	14136	987	35	5		5	SETD7	4	140439119	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	133070	140439119	50715157	2474	23399											
SETD7	80854	broad.mit.edu	37	chr4	140450287	140450287	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aataaatttcccataaagtgCggtcctctcatcagggtaca	13	11	7	10	1	2	0	2	0	1	0	5	0	4	0	2	2	2	1	2	2	6	4	rs76651232	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:140450287C>T	ENST00000274031.3	-	4	1096	c.460G>A	c.(460-462)Gca>Aca	p.A154T	SETD7_ENST00000506866.2_Missense_Mutation_p.A154T	NM_030648.2	NP_085151.1	Q8WTS6	SETD7_HUMAN	SET domain containing (lysine methyltransferase) 7	154					chromatin modification (GO:0016568)|peptidyl-lysine dimethylation (GO:0018027)|peptidyl-lysine monomethylation (GO:0018026)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)|p53 binding (GO:0002039)|protein-lysine N-methyltransferase activity (GO:0016279)			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	8	all_hematologic(180;0.156)					CCATAAAGTGCGGTCCTCTCA	0.468													C|||	8	0.00159744	0.0053	0	5008	,	,		18380	0		0.001	False		,,,				2504	0					ENST00000274031.3																			0				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	8						c.(460-462)Gca>Aca		SET domain containing (lysine methyltransferase) 7		C	THR/ALA	7,4399	11.4+/-27.6	0,7,2196	177	167	170		460	4.1	0.1	4	dbSNP_131	170	7,8593	5.7+/-21.5	0,7,4293	yes	missense	SETD7	NM_030648.2	58	0,14,6489	TT,TC,CC		0.0814,0.1589,0.1076	benign	154/367	140450287	14,12992	2203	4300	6503	SO:0001583	missense	80854				peptidyl-lysine dimethylation|peptidyl-lysine monomethylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	histone-lysine N-methyltransferase activity|p53 binding	g.chr4:140450287C>T	AB051504	CCDS3748.1	4q31.1	2011-07-01			ENSG00000145391	ENSG00000145391		"Chromatin-modifying enzymes / K-methyltransferases"	30412	protein-coding gene	gene with protein product		606594				11850410, 11779497	Standard	NM_030648		Approved	KIAA1717, SET7, SET7/9, Set9, KMT7	uc003ihw.3	Q8WTS6	OTTHUMG00000133385	ENST00000274031.3:c.460G>A	4.37:g.140450287C>T	ENSP00000274031:p.Ala154Thr					SETD7_ENST00000506866.2_Missense_Mutation_p.A154T	p.A154T	NM_030648.2	NP_085151.1	Q8WTS6	SETD7_HUMAN			4	1096	-	all_hematologic(180;0.156)		154					B5WWL3|Q0VAH3|Q4W5A9|Q9C0E6	Missense_Mutation	SNP	ENST00000274031.3	37	c.460G>A	CCDS3748.1	7	0.003205128205128205	6	0.012195121951219513	0	0.0	0	0.0	1	0.0013192612137203166	C	13.36	2.212906	0.39102	0.001589	8.14E-4	ENSG00000145391	ENST00000506866;ENST00000274031	T;T	0.42513	0.97;0.97	5.11	4.13	0.48395	.	0.102840	0.64402	D	0.000003	T	0.23532	0.0569	L	0.39397	1.21	0.80722	D	1	B	0.12013	0.005	B	0.06405	0.002	T	0.05818	-1.0862	10	0.13853	T	0.58	-20.579	12.1289	0.53932	0.0:0.8843:0.0:0.1157	.	154	Q8WTS6	SETD7_HUMAN	T	154	ENSP00000427300:A154T;ENSP00000274031:A154T	ENSP00000274031:A154T	A	-	1	0	SETD7	140669737	1.000000	0.71417	0.085000	0.20634	0.882000	0.50991	4.639000	0.61361	2.386000	0.81285	0.561000	0.74099	GCA		0.468	SETD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257236.1	NM_030648		40	44	0	0	0	1	0	40	44					T	140450287	C	T	140450287	3	4	435	1	0	0	0	0	1	0	0	0	14136	768	27	1	660	1	SETD7	4	140450287	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	11168	140450287	50703989	2475	23400											
ELMOD2	255520	broad.mit.edu	37	chr4	141471406	141471406	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatcttgtctatgaatttgaCaagttttggtttgaagaaga	12	17	9	3	0	2	5	0	3	2	2	2	5	2	5	0	1	0	2	0	1	6	7			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:141471406C>T	ENST00000323570.3	+	9	891	c.759C>T	c.(757-759)gaC>gaT	p.D253D		NM_153702.3	NP_714913.1	Q8IZ81	ELMD2_HUMAN	ELMO/CED-12 domain containing 2	253	ELMO. {ECO:0000255|PROSITE- ProRule:PRU00664}.				defense response to virus (GO:0051607)|phagocytosis (GO:0006909)|positive regulation of GTPase activity (GO:0043547)|regulation of defense response to virus (GO:0050688)	cytoskeleton (GO:0005856)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)			endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	7	all_hematologic(180;0.162)					ATGAATTTGACAAGTTTTGGT	0.294																																						ENST00000323570.3																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	7						c.(757-759)gaC>gaT		ELMO/CED-12 domain containing 2							59	62	61					4																	141471406		2199	4278	6477	SO:0001819	synonymous_variant	255520				phagocytosis|regulation of defense response to virus|response to virus	cytoskeleton	GTPase activator activity	g.chr4:141471406C>T	BX648349	CCDS3752.1	4q31.1	2006-10-24	2006-01-20		ENSG00000179387	ENSG00000179387			28111	protein-coding gene	gene with protein product		610196	"ELMO domain containing 2"			16773575	Standard	NM_153702		Approved	MGC10084	uc003iik.3	Q8IZ81	OTTHUMG00000133417	ENST00000323570.3:c.759C>T	4.37:g.141471406C>T							p.D253D	NM_153702.3	NP_714913.1	Q8IZ81	ELMD2_HUMAN			9	891	+	all_hematologic(180;0.162)		253			ELMO.		B2R712|D3DNZ0	Silent	SNP	ENST00000323570.3	37	c.759C>T	CCDS3752.1																																																																																				0.294	ELMOD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257277.2	NM_153702		12	28	0	0	0	1	0	12	28					T	141471406	C	T	141471406	2	4	435	1	0	0	0	0	0	0	0	1	5069	477	17	3		3	ELMOD2	4	141471406	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	1021119	141471406	49682870	2476	23401											
TBC1D9	23158	broad.mit.edu	37	chr4	141580778	141580778	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtagtaatctgggagcatgcGctcacacaaagccacaagca	14	6	10	11	1	2	0	1	0	1	0	2	1	2	1	1	1	4	5	1	1	4	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:141580778G>A	ENST00000442267.2	-	11	1959	c.1885C>T	c.(1885-1887)Cgc>Tgc	p.R629C		NM_015130.2	NP_055945.2	Q6ZT07	TBCD9_HUMAN	TBC1 domain family, member 9 (with GRAM domain)	629	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.						calcium ion binding (GO:0005509)|Rab GTPase activator activity (GO:0005097)			endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	31	all_hematologic(180;0.162)	Medulloblastoma(177;0.00498)				GGGAGCATGCGCTCACACAAA	0.443																																						ENST00000442267.2																			0				endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	31						c.(1885-1887)Cgc>Tgc		TBC1 domain family, member 9 (with GRAM domain)							58	62	60					4																	141580778		2081	4228	6309	SO:0001583	missense	23158					intracellular	calcium ion binding|Rab GTPase activator activity	g.chr4:141580778G>A	AB020689	CCDS47136.1	4q31.1	2013-01-10	2006-07-12		ENSG00000109436	ENSG00000109436		"EF-hand domain containing"	21710	protein-coding gene	gene with protein product			"TBC1 domain family, member 9"			12970790	Standard	NM_015130		Approved	KIAA0882, MDR1	uc010ioj.3	Q6ZT07	OTTHUMG00000161405	ENST00000442267.2:c.1885C>T	4.37:g.141580778G>A	ENSP00000411197:p.Arg629Cys						p.R629C	NM_015130.2	NP_055945.2	Q6ZT07	TBCD9_HUMAN			11	1959	-	all_hematologic(180;0.162)	Medulloblastoma(177;0.00498)	629			Rab-GAP TBC.		A6H8U8|D3DNZ1|O94958	Missense_Mutation	SNP	ENST00000442267.2	37	c.1885C>T	CCDS47136.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.277780	0.80692	.	.	ENSG00000109436	ENST00000442267	T	0.11712	2.75	5.62	4.75	0.60458	Rab-GAP/TBC domain (4);	0.000000	0.85682	D	0.000000	T	0.41789	0.1174	M	0.91561	3.22	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	T	0.52472	-0.8571	10	0.87932	D	0	.	15.9752	0.80057	0.0:0.0:0.8649:0.1351	.	629	Q6ZT07	TBCD9_HUMAN	C	629	ENSP00000411197:R629C	ENSP00000411197:R629C	R	-	1	0	TBC1D9	141800228	0.997000	0.39634	1.000000	0.80357	0.992000	0.81027	1.764000	0.38471	2.634000	0.89283	0.655000	0.94253	CGC		0.443	TBC1D9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364806.1	NM_015130		3	6	0	0	0	1	0	3	6					A	141580778	G	A	141580778	3	1	435	1	0	0	0	0	1	0	0	0	15624	1087	38	1	1959	1	TBC1D9	4	141580778	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	109372	141580778	49573498	2477	23402											
INPP4B	8821	broad.mit.edu	37	chr4	142950019	142950019	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgtagcatgttgaaagcataCtttctgcatttgatattctt	10	18	7	6	0	2	2	0	2	2	0	2	2	2	2	0	0	4	5	0	0	4	8			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:142950019C>A	ENST00000513000.1	-	27	3124	c.2691G>T	c.(2689-2691)aaG>aaT	p.K897N	INPP4B_ENST00000262992.4_Missense_Mutation_p.K897N|INPP4B_ENST00000508116.1_Missense_Mutation_p.K897N|INPP4B_ENST00000308502.4_Missense_Mutation_p.K897N	NM_003866.2	NP_003857.2	O15327	INP4B_HUMAN	inositol polyphosphate-4-phosphatase, type II, 105kDa	897					cellular calcium ion homeostasis (GO:0006874)|inositol phosphate metabolic process (GO:0043647)|negative regulation of osteoclast differentiation (GO:0045671)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|regulation of bone remodeling (GO:0046850)|regulation of nucleocytoplasmic transport (GO:0046822)|regulation of protein kinase B signaling (GO:0051896)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|Golgi apparatus (GO:0005794)	lipid binding (GO:0008289)|phosphatidylinositol trisphosphate phosphatase activity (GO:0034594)|phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity (GO:0016316)|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity (GO:0034597)			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(29)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58	all_hematologic(180;0.158)					TGAAAGCATACTTTCTGCATT	0.393																																						ENST00000513000.1																			0				breast(3)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(29)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58						c.(2689-2691)aaG>aaT		inositol polyphosphate-4-phosphatase, type II, 105kDa							157	139	145					4																	142950019		2203	4300	6503	SO:0001583	missense	8821				signal transduction		phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity	g.chr4:142950019C>A	U96922	CCDS3757.1	4q31.1	2008-02-05	2002-08-29			ENSG00000109452			6075	protein-coding gene	gene with protein product		607494	"inositol polyphosphate-4-phosphatase, type II, 105kD"			9295334	Standard	NM_003866		Approved		uc003iiw.4	O15327		ENST00000513000.1:c.2691G>T	4.37:g.142950019C>A	ENSP00000425487:p.Lys897Asn					INPP4B_ENST00000262992.4_Missense_Mutation_p.K897N|INPP4B_ENST00000308502.4_Missense_Mutation_p.K897N|INPP4B_ENST00000508116.1_Missense_Mutation_p.K897N	p.K897N	NM_003866.2	NP_003857.2	O15327	INP4B_HUMAN			27	3124	-	all_hematologic(180;0.158)		897					Q2TAI2|Q5XLE7|Q6IN59|Q6PJB4	Missense_Mutation	SNP	ENST00000513000.1	37	c.2691G>T	CCDS3757.1	.	.	.	.	.	.	.	.	.	.	C	14.90	2.673620	0.47781	.	.	ENSG00000109452	ENST00000513000;ENST00000262992;ENST00000308502;ENST00000508116	T;T;T;T	0.27402	1.67;1.67;1.67;1.67	5.58	3.82	0.43975	.	0.452102	0.22545	N	0.058661	T	0.37652	0.1011	M	0.67397	2.05	0.80722	D	1	P	0.44478	0.836	P	0.46758	0.526	T	0.19712	-1.0297	10	0.48119	T	0.1	.	10.1656	0.42877	0.0:0.7899:0.0:0.2101	.	897	O15327	INP4B_HUMAN	N	897	ENSP00000425487:K897N;ENSP00000262992:K897N;ENSP00000308441:K897N;ENSP00000423954:K897N	ENSP00000262992:K897N	K	-	3	2	INPP4B	143169469	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	0.799000	0.27028	1.342000	0.45619	0.585000	0.79938	AAG		0.393	INPP4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364587.1	NM_003866		10	57	1	0	3.07112e-06	1	3.18879e-06	10	57					A	142950019	C	A	142950019	3	1	435	1	0	0	0	0	1	0	0	0	7753	564	20	5	87	5	INPP4B	4	142950019	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	1369241	142950019	48204257	2478	23403											
INPP4B	8821	broad.mit.edu	37	chr4	142950057	142950057	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cttcagtacattctctatgcGgcatccttctctggtgaaag	8	14	8	11	1	3	1	1	1	2	0	6	1	4	1	1	2	2	2	1	2	3	5	rs374251810		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:142950057G>A	ENST00000513000.1	-	27	3086	c.2653C>T	c.(2653-2655)Cgc>Tgc	p.R885C	INPP4B_ENST00000262992.4_Missense_Mutation_p.R885C|INPP4B_ENST00000508116.1_Missense_Mutation_p.R885C|INPP4B_ENST00000308502.4_Missense_Mutation_p.R885C	NM_003866.2	NP_003857.2	O15327	INP4B_HUMAN	inositol polyphosphate-4-phosphatase, type II, 105kDa	885					cellular calcium ion homeostasis (GO:0006874)|inositol phosphate metabolic process (GO:0043647)|negative regulation of osteoclast differentiation (GO:0045671)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|regulation of bone remodeling (GO:0046850)|regulation of nucleocytoplasmic transport (GO:0046822)|regulation of protein kinase B signaling (GO:0051896)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|Golgi apparatus (GO:0005794)	lipid binding (GO:0008289)|phosphatidylinositol trisphosphate phosphatase activity (GO:0034594)|phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity (GO:0016316)|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity (GO:0034597)			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(29)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58	all_hematologic(180;0.158)					TTCTCTATGCGGCATCCTTCT	0.403													G|||	1	0.000199681	8e-04	0	5008	,	,		18187	0		0	False		,,,				2504	0					ENST00000513000.1																			0				breast(3)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(29)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58						c.(2653-2655)Cgc>Tgc		inositol polyphosphate-4-phosphatase, type II, 105kDa		G	CYS/ARG,CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	101	93	96		2653,2653	5.8	1	4		96	0,8600		0,0,4300	no	missense,missense	INPP4B	NM_001101669.1,NM_003866.2	180,180	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging	885/925,885/925	142950057	1,13005	2203	4300	6503	SO:0001583	missense	8821				signal transduction		phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity	g.chr4:142950057G>A	U96922	CCDS3757.1	4q31.1	2008-02-05	2002-08-29			ENSG00000109452			6075	protein-coding gene	gene with protein product		607494	"inositol polyphosphate-4-phosphatase, type II, 105kD"			9295334	Standard	NM_003866		Approved		uc003iiw.4	O15327		ENST00000513000.1:c.2653C>T	4.37:g.142950057G>A	ENSP00000425487:p.Arg885Cys					INPP4B_ENST00000262992.4_Missense_Mutation_p.R885C|INPP4B_ENST00000308502.4_Missense_Mutation_p.R885C|INPP4B_ENST00000508116.1_Missense_Mutation_p.R885C	p.R885C	NM_003866.2	NP_003857.2	O15327	INP4B_HUMAN			27	3086	-	all_hematologic(180;0.158)		885					Q2TAI2|Q5XLE7|Q6IN59|Q6PJB4	Missense_Mutation	SNP	ENST00000513000.1	37	c.2653C>T	CCDS3757.1	.	.	.	.	.	.	.	.	.	.	G	19.69	3.875400	0.72180	2.27E-4	0.0	ENSG00000109452	ENST00000513000;ENST00000262992;ENST00000308502;ENST00000508116	T;T;T;T	0.55760	0.5;0.5;0.5;0.5	5.82	5.82	0.92795	.	0.190363	0.46442	D	0.000297	T	0.77658	0.4163	M	0.84948	2.725	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.80037	-0.1550	10	0.87932	D	0	.	20.0938	0.97831	0.0:0.0:1.0:0.0	.	885	O15327	INP4B_HUMAN	C	885	ENSP00000425487:R885C;ENSP00000262992:R885C;ENSP00000308441:R885C;ENSP00000423954:R885C	ENSP00000262992:R885C	R	-	1	0	INPP4B	143169507	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.810000	0.99221	2.757000	0.94681	0.585000	0.79938	CGC		0.403	INPP4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364587.1	NM_003866		23	47	0	0	0	1	0	23	47					A	142950057	G	A	142950057	3	1	435	1	0	0	0	0	1	0	0	0	7753	1116	39	2	125	2	INPP4B	4	142950057	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	38	142950057	48204219	2479	23404											
INPP4B	8821	broad.mit.edu	37	chr4	143003203	143003203	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttctcatgcaatccagcgCtcggataaagaagtccttgt	10	11	8	12	2	1	1	1	0	1	1	5	2	3	2	3	1	2	2	3	1	4	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:143003203C>T	ENST00000513000.1	-	26	3056	c.2623G>A	c.(2623-2625)Gcg>Acg	p.A875T	INPP4B_ENST00000262992.4_Missense_Mutation_p.A875T|INPP4B_ENST00000508116.1_Missense_Mutation_p.A875T|INPP4B_ENST00000308502.4_Missense_Mutation_p.A875T|INPP4B_ENST00000509777.1_Missense_Mutation_p.A875T	NM_003866.2	NP_003857.2	O15327	INP4B_HUMAN	inositol polyphosphate-4-phosphatase, type II, 105kDa	875					cellular calcium ion homeostasis (GO:0006874)|inositol phosphate metabolic process (GO:0043647)|negative regulation of osteoclast differentiation (GO:0045671)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|regulation of bone remodeling (GO:0046850)|regulation of nucleocytoplasmic transport (GO:0046822)|regulation of protein kinase B signaling (GO:0051896)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|Golgi apparatus (GO:0005794)	lipid binding (GO:0008289)|phosphatidylinositol trisphosphate phosphatase activity (GO:0034594)|phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity (GO:0016316)|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity (GO:0034597)			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(29)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58	all_hematologic(180;0.158)					CAATCCAGCGCTCGGATAAAG	0.343																																						ENST00000513000.1																			0				breast(3)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(29)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58						c.(2623-2625)Gcg>Acg		inositol polyphosphate-4-phosphatase, type II, 105kDa							110	98	102					4																	143003203		2203	4300	6503	SO:0001583	missense	8821				signal transduction		phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity	g.chr4:143003203C>T	U96922	CCDS3757.1	4q31.1	2008-02-05	2002-08-29			ENSG00000109452			6075	protein-coding gene	gene with protein product		607494	"inositol polyphosphate-4-phosphatase, type II, 105kD"			9295334	Standard	NM_003866		Approved		uc003iiw.4	O15327		ENST00000513000.1:c.2623G>A	4.37:g.143003203C>T	ENSP00000425487:p.Ala875Thr					INPP4B_ENST00000262992.4_Missense_Mutation_p.A875T|INPP4B_ENST00000509777.1_Missense_Mutation_p.A875T|INPP4B_ENST00000308502.4_Missense_Mutation_p.A875T|INPP4B_ENST00000508116.1_Missense_Mutation_p.A875T	p.A875T	NM_003866.2	NP_003857.2	O15327	INP4B_HUMAN			26	3056	-	all_hematologic(180;0.158)		875					Q2TAI2|Q5XLE7|Q6IN59|Q6PJB4	Missense_Mutation	SNP	ENST00000513000.1	37	c.2623G>A	CCDS3757.1	.	.	.	.	.	.	.	.	.	.	C	29.2	4.988338	0.93106	.	.	ENSG00000109452	ENST00000513000;ENST00000262992;ENST00000308502;ENST00000508116;ENST00000509777	T;T;T;T;T	0.28666	1.71;1.71;1.71;1.71;1.6	6.06	6.06	0.98353	.	0.000000	0.85682	D	0.000000	T	0.54481	0.1861	L	0.52823	1.66	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.42766	-0.9432	10	0.48119	T	0.1	.	20.6397	0.99537	0.0:1.0:0.0:0.0	.	875	O15327	INP4B_HUMAN	T	875	ENSP00000425487:A875T;ENSP00000262992:A875T;ENSP00000308441:A875T;ENSP00000423954:A875T;ENSP00000422793:A875T	ENSP00000262992:A875T	A	-	1	0	INPP4B	143222653	1.000000	0.71417	0.786000	0.31890	0.698000	0.40448	7.487000	0.81328	2.880000	0.98712	0.650000	0.86243	GCG		0.343	INPP4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364587.1	NM_003866		20	54	0	0	0	1	0	20	54					T	143003203	C	T	143003203	3	4	435	1	0	0	0	0	1	0	0	0	7753	797	28	3	159	3	INPP4B	4	143003203	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	53146	143003203	48151073	2480	23405											
USP38	84640	broad.mit.edu	37	chr4	144136036	144136036	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ggactctggataaatggagaCccacctctacagaaagaact	15	7	9	10	0	2	3	0	0	2	3	2	6	2	5	2	3	2	0	2	3	5	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:144136036C>T	ENST00000307017.4	+	9	3413	c.2907C>T	c.(2905-2907)gaC>gaT	p.D969D	USP38_ENST00000510377.1_Silent_p.D969D	NM_032557.5	NP_115946.2	Q8NB14	UBP38_HUMAN	ubiquitin specific peptidase 38	969					protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitin-specific protease activity (GO:0004843)			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(3)	33	all_hematologic(180;0.158)					TAAATGGAGACCCACCTCTAC	0.328																																						ENST00000307017.4																			0				breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(3)	33						c.(2905-2907)gaC>gaT		ubiquitin specific peptidase 38							48	50	50					4																	144136036		2203	4299	6502	SO:0001819	synonymous_variant	84640				ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr4:144136036C>T	AF211481	CCDS3758.1	4q31.1	2008-02-05	2005-08-08		ENSG00000170185	ENSG00000170185		"Ubiquitin-specific peptidases"	20067	protein-coding gene	gene with protein product			"ubiquitin specific protease 38"			12838346	Standard	NM_032557		Approved	KIAA1891, HP43.8KD	uc003ijb.3	Q8NB14	OTTHUMG00000161420	ENST00000307017.4:c.2907C>T	4.37:g.144136036C>T						USP38_ENST00000510377.1_Silent_p.D969D	p.D969D	NM_032557.5	NP_115946.2	Q8NB14	UBP38_HUMAN			9	3413	+	all_hematologic(180;0.158)		969					B3KX93|Q3ZCV1|Q8NDF5|Q96DK6|Q96PZ6|Q9BY55	Silent	SNP	ENST00000307017.4	37	c.2907C>T	CCDS3758.1																																																																																				0.328	USP38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364869.1	NM_032557		22	24	0	0	0	1	0	22	24					T	144136036	C	T	144136036	2	4	435	1	0	0	0	0	0	0	0	1	17066	506	18	3		3	USP38	4	144136036	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	1132833	144136036	47018240	2481	23406											
GAB1	2549	broad.mit.edu	37	chr4	144359424	144359424	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	agaactctatgtttttaataCcccatctgggacatcgagtg	11	13	8	9	1	2	1	0	0	2	1	3	3	2	2	2	1	2	1	2	1	4	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:144359424C>A	ENST00000262994.4	+	4	1168	c.866C>A	c.(865-867)aCc>aAc	p.T289N	GAB1_ENST00000505913.1_Missense_Mutation_p.T186N|GAB1_ENST00000262995.4_Missense_Mutation_p.T289N	NM_002039.3	NP_002030.2	Q13480	GAB1_HUMAN	GRB2-associated binding protein 1	289					activation of JUN kinase activity (GO:0007257)|cell proliferation (GO:0008283)|epidermal growth factor receptor signaling pathway (GO:0007173)|epidermis development (GO:0008544)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|interleukin-6-mediated signaling pathway (GO:0070102)|labyrinthine layer development (GO:0060711)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|regulation of cell migration (GO:0030334)|response to oxidative stress (GO:0006979)	cytosol (GO:0005829)	SH3/SH2 adaptor activity (GO:0005070)|signal transducer activity (GO:0004871)			breast(3)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	30	all_hematologic(180;0.158)					GTTTTTAATACCCCATCTGGG	0.413																																						ENST00000262995.4																			0				breast(3)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	30						c.(865-867)aCc>aAc		GRB2-associated binding protein 1							67	66	66					4																	144359424		2203	4300	6503	SO:0001583	missense	2549				cell proliferation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway	cytosol	SH3/SH2 adaptor activity	g.chr4:144359424C>A	U43885	CCDS3759.1, CCDS3760.1	4q31.1	2013-01-10			ENSG00000109458	ENSG00000109458		"Pleckstrin homology (PH) domain containing"	4066	protein-coding gene	gene with protein product		604439				8596638	Standard	NM_207123		Approved		uc003ijd.3	Q13480	OTTHUMG00000161432	ENST00000262994.4:c.866C>A	4.37:g.144359424C>A	ENSP00000262994:p.Thr289Asn					GAB1_ENST00000262994.4_Missense_Mutation_p.T289N|GAB1_ENST00000505913.1_Missense_Mutation_p.T186N	p.T289N	NM_207123.2	NP_997006.1	Q13480	GAB1_HUMAN			4	1293	+	all_hematologic(180;0.158)		289					A8K152|Q4W5G2|Q6P1W2	Missense_Mutation	SNP	ENST00000262994.4	37	c.866C>A	CCDS3759.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.048480	0.75846	.	.	ENSG00000109458	ENST00000262995;ENST00000262994;ENST00000505913	T;T;T	0.38722	1.12;1.12;1.12	5.8	5.8	0.92144	.	0.046236	0.85682	D	0.000000	T	0.57621	0.2066	M	0.71581	2.175	0.58432	D	0.999999	P;P	0.52061	0.895;0.95	B;P	0.53146	0.446;0.719	T	0.55341	-0.8156	10	0.41790	T	0.15	-1.8093	18.2436	0.89977	0.0:1.0:0.0:0.0	.	289;289	Q13480;Q13480-2	GAB1_HUMAN;.	N	289;289;186	ENSP00000262995:T289N;ENSP00000262994:T289N;ENSP00000424554:T186N	ENSP00000262994:T289N	T	+	2	0	GAB1	144578874	1.000000	0.71417	0.999000	0.59377	0.985000	0.73830	5.261000	0.65496	2.735000	0.93741	0.655000	0.94253	ACC		0.413	GAB1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000364998.1	NM_002039		32	54	1	0	1.7881e-09	1	1.90035e-09	32	54					A	144359424	C	A	144359424	3	1	435	1	0	0	0	0	1	0	0	0	6148	507	18	5	880	5	GAB1	4	144359424	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	223388	144359424	46794852	2482	23407											
OTUD4	54726	broad.mit.edu	37	chr4	146067543	146067543	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatagttagattctcgacttGtgtgatcaaaatcctcaact	13	14	6	8	1	3	2	2	1	1	1	5	3	4	2	1	0	1	1	1	0	6	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:146067543G>A	ENST00000447906.2	-	14	1485	c.1298C>T	c.(1297-1299)aCa>aTa	p.T433I	OTUD4_ENST00000455611.2_5'UTR|OTUD4_ENST00000454497.2_Missense_Mutation_p.T368I			Q01804	OTUD4_HUMAN	OTU deubiquitinase 4	433					protein K48-linked deubiquitination (GO:0071108)		poly(A) RNA binding (GO:0044822)|ubiquitin-specific protease activity (GO:0004843)			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33	all_hematologic(180;0.151)					TTCTCGACTTGTGTGATCAAA	0.333																																						ENST00000454497.2																			0				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33						c.(1102-1104)aCa>aTa		OTU domain containing 4							122	125	124					4																	146067543		2203	4300	6503	SO:0001583	missense	54726						protein binding	g.chr4:146067543G>A		CCDS3764.1, CCDS47139.1	4q31.21	2014-02-24	2014-02-24		ENSG00000164164	ENSG00000164164		"OTU domain containing"	24949	protein-coding gene	gene with protein product		611744	"OTU domain containing 4"			1475186, 12727813, 19996094	Standard	NM_001102653		Approved	HSHIN1, KIAA1046, DUBA6	uc003ika.4	Q01804	OTTHUMG00000161480	ENST00000447906.2:c.1298C>T	4.37:g.146067543G>A	ENSP00000395487:p.Thr433Ile					OTUD4_ENST00000447906.2_Missense_Mutation_p.T433I|OTUD4_ENST00000455611.2_5'UTR	p.T368I	NM_001102653.1	NP_001096123.1	Q01804	OTUD4_HUMAN			14	1240	-	all_hematologic(180;0.151)		432					B4DYS4|Q147U2|Q1ZYK1|Q6PG39|Q96MQ5|Q9NT94|Q9UPV6	Missense_Mutation	SNP	ENST00000447906.2	37	c.1103C>T		.	.	.	.	.	.	.	.	.	.	G	7.638	0.680186	0.14907	.	.	ENSG00000164164	ENST00000454497;ENST00000447906;ENST00000514973	T;T;T	0.31247	1.51;1.5;1.5	5.22	1.51	0.23008	.	1.155260	0.06188	N	0.680768	T	0.25121	0.0610	L	0.44542	1.39	0.09310	N	1	B;B	0.12630	0.006;0.003	B;B	0.10450	0.005;0.002	T	0.28522	-1.0041	10	0.26408	T	0.33	1.1253	5.44	0.16501	0.3404:0.1763:0.4833:0.0	.	433;432	G3V0I6;Q01804	.;OTUD4_HUMAN	I	368;433;367	ENSP00000409279:T368I;ENSP00000395487:T433I;ENSP00000425972:T367I	ENSP00000395487:T433I	T	-	2	0	OTUD4	146286993	0.000000	0.05858	0.020000	0.16555	0.953000	0.61014	0.092000	0.15066	0.030000	0.15379	-0.150000	0.13652	ACA		0.333	OTUD4-004	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000365117.2	NM_017493		4	78	0	0	0	1	0	4	78					A	146067543	G	A	146067543	3	1	435	1	0	0	0	0	1	0	0	0	11314	1377	48	3	2078	3	OTUD4	4	146067543	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	1708119	146067543	45086733	2483	23408											
EDNRA	1909	broad.mit.edu	37	chr4	148453683	148453683	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gagcagttgcctcctggagtCgtgttcagggaattgggatt	7	12	15	7	1	1	0	1	0	0	0	3	4	2	3	2	3	2	3	2	3	1	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:148453683C>T	ENST00000324300.5	+	4	1089	c.574C>T	c.(574-576)Cgt>Tgt	p.R192C	EDNRA_ENST00000511804.1_5'UTR|EDNRA_ENST00000503721.1_3'UTR|EDNRA_ENST00000339690.5_Missense_Mutation_p.S149L|EDNRA_ENST00000358556.4_Intron|EDNRA_ENST00000506066.1_Intron	NM_001957.3	NP_001948.1	P25101	EDNRA_HUMAN	endothelin receptor type A	192					activation of adenylate cyclase activity (GO:0007190)|activation of phospholipase C activity (GO:0007202)|aging (GO:0007568)|artery smooth muscle contraction (GO:0014824)|cell proliferation (GO:0008283)|cellular response to mechanical stimulus (GO:0071260)|endothelin receptor signaling pathway (GO:0086100)|enteric nervous system development (GO:0048484)|fibroblast proliferation (GO:0048144)|G-protein coupled receptor signaling pathway (GO:0007186)|glomerular filtration (GO:0003094)|glucose transport (GO:0015758)|head development (GO:0060322)|heart development (GO:0007507)|histamine secretion (GO:0001821)|in utero embryonic development (GO:0001701)|maternal process involved in parturition (GO:0060137)|metabolic process (GO:0008152)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cAMP biosynthetic process (GO:0030818)|neural crest cell development (GO:0014032)|patterning of blood vessels (GO:0001569)|penile erection (GO:0043084)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of inflammatory response (GO:0050729)|positive regulation of kidney development (GO:0090184)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of odontogenesis (GO:0042482)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of blood pressure (GO:0008217)|regulation of epithelial cell proliferation (GO:0050678)|respiratory gaseous exchange (GO:0007585)|response to hypoxia (GO:0001666)|response to lipopolysaccharide (GO:0032496)|response to morphine (GO:0043278)|Rho protein signal transduction (GO:0007266)|sensory perception of pain (GO:0019233)|signal transduction (GO:0007165)|smooth muscle cell proliferation (GO:0048659)|smooth muscle contraction (GO:0006939)|vasoconstriction (GO:0042310)	integral component of plasma membrane (GO:0005887)|nuclear membrane (GO:0031965)|plasma membrane (GO:0005886)|T-tubule (GO:0030315)	endothelin receptor activity (GO:0004962)|phosphatidylinositol phospholipase C activity (GO:0004435)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(3)|ovary(1)	17	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.154)	Acetylsalicylic acid(DB00945)|Bosentan(DB00559)|MACITENTAN(DB08932)|Sitaxentan(DB06268)	CTCCTGGAGTCGTGTTCAGGG	0.408																																						ENST00000324300.5																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(3)|ovary(1)	17						c.(574-576)Cgt>Tgt		endothelin receptor type A	Bosentan(DB00559)						161	151	154					4																	148453683		2203	4300	6503	SO:0001583	missense	1909				activation of adenylate cyclase activity|artery smooth muscle contraction|cell proliferation|glucose transport|respiratory gaseous exchange	integral to plasma membrane	endothelin-A receptor activity|phosphatidylinositol phospholipase C activity	g.chr4:148453683C>T	D90348	CCDS3769.1, CCDS54810.1, CCDS58927.1	4q31.22	2013-09-20			ENSG00000151617	ENSG00000151617		"GPCR / Class A : Endothelin receptors"	3179	protein-coding gene	gene with protein product		131243				1659806	Standard	NM_001957		Approved		uc003iky.3	P25101	OTTHUMG00000161354	ENST00000324300.5:c.574C>T	4.37:g.148453683C>T	ENSP00000315011:p.Arg192Cys					EDNRA_ENST00000506066.1_Intron|EDNRA_ENST00000511804.1_5'UTR|EDNRA_ENST00000339690.5_Missense_Mutation_p.S149L|EDNRA_ENST00000503721.1_3'UTR|EDNRA_ENST00000358556.4_Intron	p.R192C	NM_001957.3	NP_001948.1	P25101	EDNRA_HUMAN		GBM - Glioblastoma multiforme(119;0.154)	4	1089	+	all_hematologic(180;0.151)		192					B2R723|B4E2V6|B7Z9G6|D3DP03|E7ER36|O43441|Q16432|Q16433|Q8TBH2	Missense_Mutation	SNP	ENST00000324300.5	37	c.574C>T	CCDS3769.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	22.3|22.3	4.272813|4.272813	0.80580|0.80580	.|.	.|.	ENSG00000151617|ENSG00000151617	ENST00000324300|ENST00000339690	T|D	0.43294|0.83075	0.95|-1.68	5.55|5.55	4.68|4.68	0.58851|0.58851	GPCR, rhodopsin-like superfamily (1);|.	0.049966|.	0.85682|.	D|.	0.000000|.	D|D	0.84302|0.84302	0.5442|0.5442	M|M	0.91561|0.91561	3.22|3.22	0.30451|0.30451	N|N	0.775231|0.775231	D|P	0.89917|0.44946	1.0|0.846	D|B	0.91635|0.30401	0.999|0.115	D|D	0.87194|0.87194	0.2236|0.2236	10|9	0.87932|0.72032	D|D	0|0.01	-13.9814|-13.9814	15.8177|15.8177	0.78615|0.78615	0.1364:0.8636:0.0:0.0|0.1364:0.8636:0.0:0.0	.|.	192|149	P25101|P25101-2	EDNRA_HUMAN|.	C|L	192|149	ENSP00000315011:R192C|ENSP00000341556:S149L	ENSP00000315011:R192C|ENSP00000341556:S149L	R|S	+|+	1|2	0|0	EDNRA|EDNRA	148673133|148673133	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	2.851000|2.851000	0.48302|0.48302	2.604000|2.604000	0.88044|0.88044	0.557000|0.557000	0.71058|0.71058	CGT|TCG		0.408	EDNRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364635.1			56	72	0	0	0	1	0	56	72					T	148453683	C	T	148453683	3	4	435	1	0	0	0	0	1	0	0	0	4919	884	31	2	584	2	EDNRA	4	148453683	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	2386140	148453683	42700593	2484	23409											
TMEM184C	55751	broad.mit.edu	37	chr4	148555573	148555573	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aaagaaccttcagataaatcCgtggattcctgaacagtatg	15	10	8	8	1	1	3	1	1	0	2	3	4	3	4	3	1	2	1	3	1	6	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:148555573C>T	ENST00000296582.3	+	10	1879	c.1305C>T	c.(1303-1305)tcC>tcT	p.S435S	TMEM184C_ENST00000508208.1_Intron	NM_018241.2	NP_060711.2	Q9NVA4	T184C_HUMAN	transmembrane protein 184C	435						integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(2)|prostate(1)	16						CAGATAAATCCGTGGATTCCT	0.403																																						ENST00000296582.3																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(2)|prostate(1)	16						c.(1303-1305)tcC>tcT		transmembrane protein 184C							57	60	59					4																	148555573		2202	4298	6500	SO:0001819	synonymous_variant	55751					integral to membrane		g.chr4:148555573C>T	AF305823	CCDS3770.1	4q31.22	2008-06-05	2008-06-05	2008-06-05		ENSG00000164168			25587	protein-coding gene	gene with protein product		613937	"transmembrane protein 34"	TMEM34			Standard	NM_018241		Approved	FLJ10846	uc003ila.4	Q9NVA4		ENST00000296582.3:c.1305C>T	4.37:g.148555573C>T						TMEM184C_ENST00000508208.1_Intron	p.S435S	NM_018241.2	NP_060711.2	Q9NVA4	T184C_HUMAN			10	1879	+			435					D3DP04|Q86X84|Q969I7|Q9NXM2	Silent	SNP	ENST00000296582.3	37	c.1305C>T	CCDS3770.1																																																																																				0.403	TMEM184C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364644.1	NM_018241		15	19	0	0	0	1	0	15	19					T	148555573	C	T	148555573	2	4	435	1	0	0	0	0	0	0	0	1	16103	639	23	2		2	TMEM184C	4	148555573	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	101890	148555573	42598703	2485	23410											
ARHGAP10	79658	broad.mit.edu	37	chr4	148876466	148876466	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgagctgttcttttcacacaGgagtcttccagagcctctca	8	13	8	12	0	4	2	2	1	3	1	6	3	5	3	2	1	2	2	2	1	0	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:148876466G>T	ENST00000336498.3	+	16	1630		c.e16-1		ARHGAP10_ENST00000414545.2_Splice_Site	NM_024605.3	NP_078881.3	Q5T5U3	RHG21_HUMAN	Rho GTPase activating protein 10						establishment of Golgi localization (GO:0051683)|Golgi organization (GO:0007030)|maintenance of Golgi location (GO:0051684)|organelle transport along microtubule (GO:0072384)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)			autonomic_ganglia(2)|endometrium(5)|kidney(2)|large_intestine(4)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	33	all_hematologic(180;0.151)	Renal(17;0.0166)		GBM - Glioblastoma multiforme(119;0.0423)		TTTTCACACAGGAGTCTTCCA	0.328																																						ENST00000336498.3																			0				autonomic_ganglia(2)|endometrium(5)|kidney(2)|large_intestine(4)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	33						c.e16-1		Rho GTPase activating protein 10							155	170	165					4																	148876466		2203	4299	6502	SO:0001630	splice_region_variant	79658				apoptosis|filopodium assembly|regulation of apoptosis|small GTPase mediated signal transduction	cytosol|perinuclear region of cytoplasm|plasma membrane	cytoskeletal adaptor activity|SH3 domain binding	g.chr4:148876466G>T	BC047914	CCDS34075.1	4q31.23	2013-09-20			ENSG00000071205	ENSG00000071205		"Rho GTPase activating proteins"	26099	protein-coding gene	gene with protein product		609746				8288572	Standard	NM_024605		Approved	FLJ20896, FLJ41791, GRAF2	uc003ilf.3	A1A4S6	OTTHUMG00000161460	ENST00000336498.3:c.1392-1G>T	4.37:g.148876466G>T						ARHGAP10_ENST00000414545.2_Splice_Site		NM_024605.3	NP_078881.3	A1A4S6	RHG10_HUMAN		GBM - Glioblastoma multiforme(119;0.0423)	16	1630	+	all_hematologic(180;0.151)	Renal(17;0.0166)						Q0VF98|Q7Z3P7|Q8N3A2|Q8NI19|Q8TBV5|Q9P2C3	Splice_Site	SNP	ENST00000336498.3	37		CCDS34075.1	.	.	.	.	.	.	.	.	.	.	G	16.99	3.275198	0.59649	.	.	ENSG00000071205	ENST00000336498;ENST00000507661;ENST00000414545	.	.	.	5.26	5.26	0.73747	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.2271	0.93821	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ARHGAP10	149095916	1.000000	0.71417	0.999000	0.59377	0.666000	0.39218	8.191000	0.89716	2.613000	0.88420	0.655000	0.94253	.		0.328	ARHGAP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365005.1	NM_024605	Intron	61	137	1	0	6.12789e-21	1	6.79748e-21	61	137					T	148876466	G	T	148876466	5	4	435	1	0	0	0	0	0	0	1	0	862	1014	35	5	1453	5	ARHGAP10	4	148876466	Splice_Site	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	320893	148876466	42277810	2486	23411											
NR3C2	4306	broad.mit.edu	37	chr4	149356756	149356756	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtactgagaatgaagaatcCgaatttattttgctatttcc	12	15	8	6	1	0	3	0	2	0	2	2	5	2	3	2	1	2	2	2	1	7	7			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:149356756C>T	ENST00000358102.3	-	2	1619	c.1257G>A	c.(1255-1257)tcG>tcA	p.S419S	NR3C2_ENST00000512865.1_Silent_p.S419S|NR3C2_ENST00000344721.4_Silent_p.S419S|NR3C2_ENST00000511528.1_Silent_p.S419S|NR3C2_ENST00000355292.3_Silent_p.S419S	NM_000901.4|NM_001166104.1	NP_000892.2|NP_001159576.1	P08235	MCR_HUMAN	nuclear receptor subfamily 3, group C, member 2	419	Modulating.				gene expression (GO:0010467)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|receptor complex (GO:0043235)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0614)	Drospirenone(DB01395)|Eplerenone(DB00700)|Felodipine(DB01023)|Fludrocortisone(DB00687)|Fluticasone Propionate(DB00588)|Nimodipine(DB00393)|Progesterone(DB00396)|Spironolactone(DB00421)	ATGAAGAATCCGAATTTATTT	0.393																																					Melanoma(27;428 957 40335 51025 51111)	ENST00000355292.3																			0				breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41						c.(1255-1257)tcG>tcA		nuclear receptor subfamily 3, group C, member 2	Desoxycorticosterone Pivalate(DB01134)|Eplerenone(DB00700)|Fludrocortisone(DB00687)|Spironolactone(DB00421)						84	87	86					4																	149356756		2203	4300	6503	SO:0001819	synonymous_variant	0				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	endoplasmic reticulum membrane|nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding	g.chr4:149356756C>T	M16801	CCDS3772.1, CCDS54811.1	4q31	2013-01-16			ENSG00000151623	ENSG00000151623		"Nuclear hormone receptors"	7979	protein-coding gene	gene with protein product		600983		MLR		2558856	Standard	NM_000901		Approved	MR	uc003ilj.4	P08235	OTTHUMG00000161455	ENST00000358102.3:c.1257G>A	4.37:g.149356756C>T						NR3C2_ENST00000511528.1_Silent_p.S419S|NR3C2_ENST00000344721.4_Silent_p.S419S|NR3C2_ENST00000512865.1_Silent_p.S419S|NR3C2_ENST00000358102.3_Silent_p.S419S|NR3C2_ENST00000342437.4_Silent_p.S419S	p.S419S			P08235	MCR_HUMAN		GBM - Glioblastoma multiforme(119;0.0614)	2	1619	-	all_hematologic(180;0.151)		419			Modulating.		B0ZBF5|B0ZBF7|Q2NKL1|Q96KQ8|Q96KQ9	Silent	SNP	ENST00000358102.3	37	c.1257G>A	CCDS3772.1																																																																																				0.393	NR3C2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364986.1			18	41	0	0	0	1	0	18	41					T	149356756	C	T	149356756	2	4	435	1	0	0	0	0	0	0	0	1	10631	639	23	2		2	NR3C2	4	149356756	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	480290	149356756	41797520	2487	23412											
NR3C2	4306	broad.mit.edu	37	chr4	149356823	149356823	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	catctggttctggttttatgTactggacaatattaagctgg	9	16	10	6	0	2	0	0	0	2	0	2	1	2	1	0	4	2	4	0	4	5	6			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:149356823T>C	ENST00000358102.3	-	2	1552	c.1190A>G	c.(1189-1191)tAc>tGc	p.Y397C	NR3C2_ENST00000512865.1_Missense_Mutation_p.Y397C|NR3C2_ENST00000344721.4_Missense_Mutation_p.Y397C|NR3C2_ENST00000511528.1_Missense_Mutation_p.Y397C|NR3C2_ENST00000355292.3_Missense_Mutation_p.Y397C	NM_000901.4|NM_001166104.1	NP_000892.2|NP_001159576.1	P08235	MCR_HUMAN	nuclear receptor subfamily 3, group C, member 2	397	Modulating.				gene expression (GO:0010467)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|receptor complex (GO:0043235)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0614)	Drospirenone(DB01395)|Eplerenone(DB00700)|Felodipine(DB01023)|Fludrocortisone(DB00687)|Fluticasone Propionate(DB00588)|Nimodipine(DB00393)|Progesterone(DB00396)|Spironolactone(DB00421)	TGGTTTTATGTACTGGACAAT	0.423																																					Melanoma(27;428 957 40335 51025 51111)	ENST00000355292.3																			0				breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41						c.(1189-1191)tAc>tGc		nuclear receptor subfamily 3, group C, member 2	Desoxycorticosterone Pivalate(DB01134)|Eplerenone(DB00700)|Fludrocortisone(DB00687)|Spironolactone(DB00421)						89	91	91					4																	149356823		2203	4300	6503	SO:0001583	missense	0				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	endoplasmic reticulum membrane|nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding	g.chr4:149356823T>C	M16801	CCDS3772.1, CCDS54811.1	4q31	2013-01-16			ENSG00000151623	ENSG00000151623		"Nuclear hormone receptors"	7979	protein-coding gene	gene with protein product		600983		MLR		2558856	Standard	NM_000901		Approved	MR	uc003ilj.4	P08235	OTTHUMG00000161455	ENST00000358102.3:c.1190A>G	4.37:g.149356823T>C	ENSP00000350815:p.Tyr397Cys					NR3C2_ENST00000511528.1_Missense_Mutation_p.Y397C|NR3C2_ENST00000344721.4_Missense_Mutation_p.Y397C|NR3C2_ENST00000512865.1_Missense_Mutation_p.Y397C|NR3C2_ENST00000358102.3_Missense_Mutation_p.Y397C|NR3C2_ENST00000342437.4_Missense_Mutation_p.Y397C	p.Y397C			P08235	MCR_HUMAN		GBM - Glioblastoma multiforme(119;0.0614)	2	1552	-	all_hematologic(180;0.151)		397			Modulating.		B0ZBF5|B0ZBF7|Q2NKL1|Q96KQ8|Q96KQ9	Missense_Mutation	SNP	ENST00000358102.3	37	c.1190A>G	CCDS3772.1	.	.	.	.	.	.	.	.	.	.	T	9.696	1.153169	0.21371	.	.	ENSG00000151623	ENST00000344721;ENST00000355292;ENST00000358102;ENST00000512865;ENST00000544252;ENST00000342437;ENST00000511528	D;D;D;D;D;D	0.93712	-3.26;-3.27;-3.26;-2.9;-2.85;-3.27	5.16	5.16	0.70880	.	0.115573	0.64402	D	0.000010	D	0.92169	0.7517	L	0.27053	0.805	0.47905	D	0.999543	D;D	0.76494	0.994;0.999	P;P	0.62813	0.707;0.907	D	0.90501	0.4474	9	.	.	.	.	9.0874	0.36590	0.2787:0.0:0.0:0.7213	.	397;397	B0ZBF5;B0ZBF6	.;.	C	397	ENSP00000341390:Y397C;ENSP00000347441:Y397C;ENSP00000350815:Y397C;ENSP00000423510:Y397C;ENSP00000343907:Y397C;ENSP00000421481:Y397C	.	Y	-	2	0	NR3C2	149576273	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.756000	0.62205	2.082000	0.62665	0.533000	0.62120	TAC		0.423	NR3C2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364986.1			30	50	0	0	0	1	0	30	50					C	149356823	T	C	149356823	3	2	435	1	0	0	0	0	1	0	0	0	10631	1638	57	4	1796	4	NR3C2	4	149356823	Missense_Mutation	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	67	149356823	41797453	2488	23413											
LRBA	987	broad.mit.edu	37	chr4	151682934	151682934	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	aattaaaataaaataaattaCcttccttcattgacaagttc	18	14	2	7	0	1	1	1	1	0	0	3	1	2	1	2	0	1	1	2	0	9	8			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:151682934C>A	ENST00000357115.3	-	35	5889		c.e35+1		LRBA_ENST00000510413.1_Splice_Site|LRBA_ENST00000535741.1_Splice_Site|LRBA_ENST00000507224.1_Splice_Site	NM_006726.4	NP_006717.2	P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and anchor containing							cytoplasmic membrane-bounded vesicle (GO:0016023)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91	all_hematologic(180;0.151)					aaataaattaCCTTCCTTCAT	0.284																																						ENST00000535741.1																			0				breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						c.e35+1		LPS-responsive vesicle trafficking, beach and anchor containing							33	38	36					4																	151682934		2198	4272	6470	SO:0001630	splice_region_variant	987					endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane	protein binding	g.chr4:151682934C>A	AF216648	CCDS3773.1, CCDS58928.1	4q13	2013-01-10		2001-10-05	ENSG00000198589	ENSG00000198589		"WD repeat domain containing"	1742	protein-coding gene	gene with protein product		606453		CDC4L		1505956, 11254716	Standard	NM_006726		Approved	BGL, LAB300, LBA	uc010ipj.3	P50851	OTTHUMG00000161443	ENST00000357115.3:c.5645+1G>T	4.37:g.151682934C>A						LRBA_ENST00000357115.3_Splice_Site|LRBA_ENST00000507224.1_Splice_Site|LRBA_ENST00000510413.1_Splice_Site				P50851	LRBA_HUMAN			35	6119	-	all_hematologic(180;0.151)							Q4W5J4|Q4W5L6|Q8NFQ0|Q9H2U3|Q9H2U4	Splice_Site	SNP	ENST00000357115.3	37		CCDS3773.1	.	.	.	.	.	.	.	.	.	.	C	13.89	2.372535	0.42003	.	.	ENSG00000198589	ENST00000535741;ENST00000510413;ENST00000357115;ENST00000509835;ENST00000507224	.	.	.	5.09	5.09	0.68999	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.5067	0.90900	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	LRBA	151902384	1.000000	0.71417	1.000000	0.80357	0.200000	0.23975	7.128000	0.77217	2.352000	0.79861	0.655000	0.94253	.		0.284	LRBA-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000364939.1		Intron	36	52	1	0	6.05902e-23	1	6.74593e-23	36	52					A	151682934	C	A	151682934	5	1	435	1	0	0	0	0	0	0	1	0	8931	521	18	5	3041	5	LRBA	4	151682934	Splice_Site	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	2326111	151682934	39471342	2489	23414											
LRBA	987	broad.mit.edu	37	chr4	151749738	151749738	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ttcagattcttccactgatgCcgtagttaaagtgctgaatg	10	14	9	8	1	2	3	1	2	1	1	3	3	3	3	2	0	2	3	2	0	4	5	rs572144304		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:151749738C>T	ENST00000357115.3	-	30	5008	c.4765G>A	c.(4765-4767)Gca>Aca	p.A1589T	LRBA_ENST00000510413.1_Missense_Mutation_p.A1589T|LRBA_ENST00000535741.1_Missense_Mutation_p.A1589T|LRBA_ENST00000507224.1_Missense_Mutation_p.A1589T	NM_006726.4	NP_006717.2	P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and anchor containing	1589						cytoplasmic membrane-bounded vesicle (GO:0016023)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91	all_hematologic(180;0.151)					TCCACTGATGCCGTAGTTAAA	0.403																																						ENST00000535741.1																			0				breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						c.(4765-4767)Gca>Aca		LPS-responsive vesicle trafficking, beach and anchor containing							298	278	285					4																	151749738		2203	4300	6503	SO:0001583	missense	987					endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane	protein binding	g.chr4:151749738C>T	AF216648	CCDS3773.1, CCDS58928.1	4q13	2013-01-10		2001-10-05	ENSG00000198589	ENSG00000198589		"WD repeat domain containing"	1742	protein-coding gene	gene with protein product		606453		CDC4L		1505956, 11254716	Standard	NM_006726		Approved	BGL, LAB300, LBA	uc010ipj.3	P50851	OTTHUMG00000161443	ENST00000357115.3:c.4765G>A	4.37:g.151749738C>T	ENSP00000349629:p.Ala1589Thr					LRBA_ENST00000357115.3_Missense_Mutation_p.A1589T|LRBA_ENST00000507224.1_Missense_Mutation_p.A1589T|LRBA_ENST00000510413.1_Missense_Mutation_p.A1589T	p.A1589T			P50851	LRBA_HUMAN			30	5238	-	all_hematologic(180;0.151)		1589					Q4W5J4|Q4W5L6|Q8NFQ0|Q9H2U3|Q9H2U4	Missense_Mutation	SNP	ENST00000357115.3	37	c.4765G>A	CCDS3773.1	.	.	.	.	.	.	.	.	.	.	C	1.153	-0.645949	0.03531	.	.	ENSG00000198589	ENST00000535741;ENST00000510413;ENST00000357115;ENST00000507224	T;T;T;T	0.54071	1.0;1.16;1.01;0.59	5.35	-0.167	0.13347	.	2.700550	0.01213	N	0.007892	T	0.29588	0.0738	N	0.12746	0.255	0.09310	N	1	B;B	0.06786	0.0;0.001	B;B	0.06405	0.001;0.002	T	0.14172	-1.0482	10	0.07990	T	0.79	.	3.3012	0.06984	0.1429:0.4993:0.2178:0.14	.	1589;1589	P50851;P50851-2	LRBA_HUMAN;.	T	1589	ENSP00000446299:A1589T;ENSP00000421552:A1589T;ENSP00000349629:A1589T;ENSP00000422180:A1589T	ENSP00000349629:A1589T	A	-	1	0	LRBA	151969188	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.172000	0.16704	0.172000	0.19760	-0.300000	0.09419	GCA		0.403	LRBA-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000364939.1			27	192	0	0	0	1	0	27	192					T	151749738	C	T	151749738	3	4	435	1	0	0	0	0	1	0	0	0	8931	739	26	3	3942	3	LRBA	4	151749738	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	66804	151749738	39404538	2490	23415											
LRBA	987	broad.mit.edu	37	chr4	151826995	151826995	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atagatatatattaccttggCtggggtatgaatccatatgg	12	14	10	5	0	0	2	0	1	0	1	1	2	1	2	2	4	1	2	2	4	8	8			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:151826995C>T	ENST00000357115.3	-	13	1993	c.1750G>A	c.(1750-1752)Gcc>Acc	p.A584T	LRBA_ENST00000510413.1_Missense_Mutation_p.A584T|LRBA_ENST00000535741.1_Missense_Mutation_p.A584T|LRBA_ENST00000507224.1_Missense_Mutation_p.A584T	NM_006726.4	NP_006717.2	P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and anchor containing	584						cytoplasmic membrane-bounded vesicle (GO:0016023)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91	all_hematologic(180;0.151)					ATTACCTTGGCTGGGGTATGA	0.343																																						ENST00000535741.1																			0				breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						c.(1750-1752)Gcc>Acc		LPS-responsive vesicle trafficking, beach and anchor containing							52	58	56					4																	151826995		2203	4300	6503	SO:0001583	missense	987					endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane	protein binding	g.chr4:151826995C>T	AF216648	CCDS3773.1, CCDS58928.1	4q13	2013-01-10		2001-10-05	ENSG00000198589	ENSG00000198589		"WD repeat domain containing"	1742	protein-coding gene	gene with protein product		606453		CDC4L		1505956, 11254716	Standard	NM_006726		Approved	BGL, LAB300, LBA	uc010ipj.3	P50851	OTTHUMG00000161443	ENST00000357115.3:c.1750G>A	4.37:g.151826995C>T	ENSP00000349629:p.Ala584Thr					LRBA_ENST00000357115.3_Missense_Mutation_p.A584T|LRBA_ENST00000507224.1_Missense_Mutation_p.A584T|LRBA_ENST00000510413.1_Missense_Mutation_p.A584T	p.A584T			P50851	LRBA_HUMAN			13	2223	-	all_hematologic(180;0.151)		584					Q4W5J4|Q4W5L6|Q8NFQ0|Q9H2U3|Q9H2U4	Missense_Mutation	SNP	ENST00000357115.3	37	c.1750G>A	CCDS3773.1	.	.	.	.	.	.	.	.	.	.	C	25.9	4.688074	0.88639	.	.	ENSG00000198589	ENST00000535741;ENST00000510413;ENST00000357115;ENST00000507224	T;T;T;T	0.56941	0.85;1.0;0.85;0.43	5.68	5.68	0.88126	Armadillo-type fold (1);	0.070919	0.56097	D	0.000037	T	0.65502	0.2697	L	0.41573	1.285	0.80722	D	1	D;B;D	0.89917	0.997;0.434;1.0	D;B;D	0.87578	0.989;0.347;0.998	T	0.57556	-0.7791	10	0.22706	T	0.39	.	19.7864	0.96440	0.0:1.0:0.0:0.0	.	584;584;584	E9PEM5;P50851;P50851-2	.;LRBA_HUMAN;.	T	584	ENSP00000446299:A584T;ENSP00000421552:A584T;ENSP00000349629:A584T;ENSP00000422180:A584T	ENSP00000349629:A584T	A	-	1	0	LRBA	152046445	1.000000	0.71417	1.000000	0.80357	0.931000	0.56810	7.818000	0.86416	2.675000	0.91044	0.467000	0.42956	GCC		0.343	LRBA-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000364939.1			4	47	0	0	0	1	0	4	47					T	151826995	C	T	151826995	3	4	435	1	0	0	0	0	1	0	0	0	8931	797	28	3	7025	3	LRBA	4	151826995	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	77257	151826995	39327281	2491	23416											
LRBA	987	broad.mit.edu	37	chr4	151829826	151829826	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tagtacctggagcatgagtgCatgtggtgaatgaacaaaaa	15	9	12	5	0	0	3	0	3	0	0	0	4	0	4	1	2	4	3	1	2	6	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:151829826C>T	ENST00000357115.3	-	10	1588	c.1345G>A	c.(1345-1347)Gca>Aca	p.A449T	LRBA_ENST00000510413.1_Missense_Mutation_p.A449T|LRBA_ENST00000535741.1_Missense_Mutation_p.A449T|LRBA_ENST00000507224.1_Missense_Mutation_p.A449T	NM_006726.4	NP_006717.2	P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and anchor containing	449						cytoplasmic membrane-bounded vesicle (GO:0016023)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91	all_hematologic(180;0.151)					AGCATGAGTGCATGTGGTGAA	0.383																																						ENST00000535741.1																			0				breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						c.(1345-1347)Gca>Aca		LPS-responsive vesicle trafficking, beach and anchor containing							140	133	135					4																	151829826		2203	4300	6503	SO:0001583	missense	987					endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane	protein binding	g.chr4:151829826C>T	AF216648	CCDS3773.1, CCDS58928.1	4q13	2013-01-10		2001-10-05	ENSG00000198589	ENSG00000198589		"WD repeat domain containing"	1742	protein-coding gene	gene with protein product		606453		CDC4L		1505956, 11254716	Standard	NM_006726		Approved	BGL, LAB300, LBA	uc010ipj.3	P50851	OTTHUMG00000161443	ENST00000357115.3:c.1345G>A	4.37:g.151829826C>T	ENSP00000349629:p.Ala449Thr					LRBA_ENST00000357115.3_Missense_Mutation_p.A449T|LRBA_ENST00000507224.1_Missense_Mutation_p.A449T|LRBA_ENST00000510413.1_Missense_Mutation_p.A449T	p.A449T			P50851	LRBA_HUMAN			10	1818	-	all_hematologic(180;0.151)		449					Q4W5J4|Q4W5L6|Q8NFQ0|Q9H2U3|Q9H2U4	Missense_Mutation	SNP	ENST00000357115.3	37	c.1345G>A	CCDS3773.1	.	.	.	.	.	.	.	.	.	.	C	32	5.163879	0.94727	.	.	ENSG00000198589	ENST00000535741;ENST00000510413;ENST00000357115;ENST00000507224	T;T;T;T	0.65549	-0.16;-0.16;-0.16;-0.16	5.48	5.48	0.80851	.	0.141869	0.47093	D	0.000260	T	0.81959	0.4933	M	0.82323	2.585	0.80722	D	1	D;D;D	0.89917	0.997;0.997;1.0	D;D;D	0.87578	0.989;0.996;0.998	D	0.83755	0.0211	10	0.72032	D	0.01	.	19.7083	0.96083	0.0:1.0:0.0:0.0	.	449;449;449	E9PEM5;P50851;P50851-2	.;LRBA_HUMAN;.	T	449	ENSP00000446299:A449T;ENSP00000421552:A449T;ENSP00000349629:A449T;ENSP00000422180:A449T	ENSP00000349629:A449T	A	-	1	0	LRBA	152049276	1.000000	0.71417	1.000000	0.80357	0.933000	0.57130	6.016000	0.70798	2.726000	0.93360	0.563000	0.77884	GCA		0.383	LRBA-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000364939.1			25	36	0	0	0	1	0	25	36					T	151829826	C	T	151829826	3	4	435	1	0	0	0	0	1	0	0	0	8931	710	25	3	7442	3	LRBA	4	151829826	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	2831	151829826	39324450	2492	23417											
SH3D19	152503	broad.mit.edu	37	chr4	152058907	152058907	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	cactttgacatagttggcagGaaatatgccaatctggtttc	11	13	9	8	0	1	1	0	1	1	0	2	2	1	2	1	3	1	3	1	3	4	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:152058907G>A	ENST00000409252.2	-	14	2340	c.1633C>T	c.(1633-1635)Cct>Tct	p.P545S	SH3D19_ENST00000424281.1_Missense_Mutation_p.P486S|SH3D19_ENST00000304527.4_Missense_Mutation_p.P545S|SH3D19_ENST00000514152.1_Missense_Mutation_p.P522S|SH3D19_ENST00000455740.1_Missense_Mutation_p.P522S|SH3D19_ENST00000409598.4_Missense_Mutation_p.P522S|SH3D19_ENST00000427414.2_Missense_Mutation_p.P486S|RP11-372K14.2_ENST00000603472.1_RNA			Q5HYK7	SH319_HUMAN	SH3 domain containing 19	545	SH3 2. {ECO:0000255|PROSITE- ProRule:PRU00192}.				cytoskeleton organization (GO:0007010)|membrane organization (GO:0061024)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of cell morphogenesis (GO:0022604)	cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	proline-rich region binding (GO:0070064)			autonomic_ganglia(1)|endometrium(1)|large_intestine(3)|lung(10)|ovary(1)|skin(3)|urinary_tract(1)	20	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.138)				TAGTTGGCAGGAAATATGCCA	0.368																																						ENST00000409598.4																			0				autonomic_ganglia(1)|endometrium(1)|large_intestine(3)|lung(10)|ovary(1)|skin(3)|urinary_tract(1)	20						c.(1564-1566)Cct>Tct		SH3 domain containing 19							111	105	107					4																	152058907		2203	4300	6503	SO:0001583	missense	152503				cellular membrane organization|positive regulation of membrane protein ectodomain proteolysis|post-Golgi vesicle-mediated transport	cytosol|Golgi apparatus|nucleus|plasma membrane	proline-rich region binding	g.chr4:152058907G>A	BX647422	CCDS34077.2, CCDS47143.1, CCDS47144.1	4q31.3	2009-03-05	2009-03-05	2009-03-05	ENSG00000109686	ENSG00000109686			30418	protein-coding gene	gene with protein product	"EEN binding protein"	608674				12477932	Standard	NM_001009555		Approved	DKFZp434D0215, EVE1, EBP, Kryn, SH3P19	uc010ipl.1	Q5HYK7	OTTHUMG00000154051	ENST00000409252.2:c.1633C>T	4.37:g.152058907G>A	ENSP00000386848:p.Pro545Ser					SH3D19_ENST00000427414.2_Missense_Mutation_p.P486S|SH3D19_ENST00000514152.1_Missense_Mutation_p.P522S|SH3D19_ENST00000409252.2_Missense_Mutation_p.P545S|SH3D19_ENST00000455740.1_Missense_Mutation_p.P522S|SH3D19_ENST00000304527.4_Missense_Mutation_p.P545S|SH3D19_ENST00000424281.1_Missense_Mutation_p.P486S	p.P522S			Q5HYK7	SH319_HUMAN			14	2731	-	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.138)	545			SH3 2.		B7Z296|Q08EK1|Q32N10|Q5U3B8|Q86XB3|Q8N5E7|Q9UFC8	Missense_Mutation	SNP	ENST00000409252.2	37	c.1564C>T	CCDS34077.2	.	.	.	.	.	.	.	.	.	.	G	32	5.118297	0.94385	.	.	ENSG00000109686	ENST00000409598;ENST00000304527;ENST00000455740;ENST00000424281;ENST00000427414;ENST00000409252;ENST00000514152	D;D;D;D;D;D;D	0.90504	-2.68;-2.68;-2.68;-2.68;-2.68;-2.68;-2.68	5.23	5.23	0.72850	Src homology-3 domain (4);	0.097412	0.47093	D	0.000254	D	0.97427	0.9158	H	0.98178	4.165	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;1.0;0.999;1.0	D	0.98779	1.0731	10	0.87932	D	0	-7.7844	19.1862	0.93645	0.0:0.0:1.0:0.0	.	545;522;486;300	Q5HYK7;Q5HYK7-2;Q5HYK7-3;B3KY23	SH319_HUMAN;.;.;.	S	522;545;522;486;486;545;522	ENSP00000387030:P522S;ENSP00000302913:P545S;ENSP00000416708:P522S;ENSP00000404542:P486S;ENSP00000415694:P486S;ENSP00000386848:P545S;ENSP00000423449:P522S	ENSP00000302913:P545S	P	-	1	0	SH3D19	152278357	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.991000	0.93514	2.602000	0.87976	0.650000	0.86243	CCT		0.368	SH3D19-002	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000335132.3	NM_001009555		14	39	0	0	0	1	0	14	39					A	152058907	G	A	152058907	3	1	435	1	0	0	0	0	1	0	0	0	14249	1174	41	3	767	3	SH3D19	4	152058907	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	229081	152058907	39095369	2493	23418											
PRSS48	345062	broad.mit.edu	37	chr4	152203391	152203391	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtactacgtgtccaaaatcGtcatccatcccaagtaccaa	14	9	5	13	2	1	0	1	0	0	0	5	0	4	0	4	0	3	2	4	0	7	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:152203391G>A	ENST00000455694.2	+	3	309	c.307G>A	c.(307-309)Gtc>Atc	p.V103I	SH3D19_ENST00000604030.1_Intron|PRSS48_ENST00000441586.2_Intron	NM_183375.2	NP_899231.2	Q7RTY5	PRS48_HUMAN	protease, serine, 48	103	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)			kidney(1)|large_intestine(2)|lung(2)|prostate(2)|urinary_tract(1)	8						GTCCAAAATCGTCATCCATCC	0.473																																						ENST00000455694.2																			0				kidney(1)|large_intestine(2)|lung(2)|prostate(2)|urinary_tract(1)	8						c.(307-309)Gtc>Atc		protease, serine, 48							293	276	282					4																	152203391		2060	4219	6279	SO:0001583	missense	345062				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr4:152203391G>A	BN000134	CCDS47145.1	4q31.3	2010-05-07			ENSG00000189099	ENSG00000189099		"Serine peptidases / Serine peptidases"	24635	protein-coding gene	gene with protein product						12838346	Standard	NM_183375		Approved	ESSPL	uc011cif.2	Q7RTY5	OTTHUMG00000161673	ENST00000455694.2:c.307G>A	4.37:g.152203391G>A	ENSP00000401328:p.Val103Ile					PRSS48_ENST00000441586.2_Intron|SH3D19_ENST00000604030.1_Intron	p.V103I	NM_183375.2	NP_899231.2	Q7RTY5	PRS48_HUMAN			3	309	+			103			Peptidase S1.		Q08E82|Q0VAD4	Missense_Mutation	SNP	ENST00000455694.2	37	c.307G>A	CCDS47145.1	.	.	.	.	.	.	.	.	.	.	G	0.057	-1.234651	0.01505	.	.	ENSG00000189099	ENST00000455694	D	0.88124	-2.34	3.77	-4.41	0.03590	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	1.119640	0.07056	N	0.832816	T	0.59729	0.2215	N	0.00885	-1.115	0.20975	N	0.999815	B	0.06786	0.001	B	0.04013	0.001	T	0.59478	-0.7447	10	0.02654	T	1	.	11.162	0.48520	0.5385:0.0:0.4615:0.0	.	103	Q7RTY5	PRS48_HUMAN	I	103	ENSP00000401328:V103I	ENSP00000401328:V103I	V	+	1	0	PRSS48	152422841	0.000000	0.05858	0.001000	0.08648	0.043000	0.13939	-0.632000	0.05489	-1.035000	0.03291	-0.444000	0.05651	GTC		0.473	PRSS48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365685.3	NM_183375		49	83	0	0	0	1	0	49	83					A	152203391	G	A	152203391	3	1	435	1	0	0	0	0	1	0	0	0	12630	1145	40	1	317	1	PRSS48	4	152203391	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	144484	152203391	38950885	2494	23419											
TIGD4	201798	broad.mit.edu	37	chr4	153691371	153691371	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atccattgttcaaatacatcGgaggtcatccatgccattct	11	13	6	11	1	3	0	2	0	1	0	6	1	5	1	3	2	2	1	3	2	2	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:153691371G>A	ENST00000304337.2	-	2	1606	c.786C>T	c.(784-786)tcC>tcT	p.S262S		NM_145720.3	NP_663772.1	Q8IY51	TIGD4_HUMAN	tigger transposable element derived 4	262	DDE.					nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	26	all_hematologic(180;0.093)					CAAATACATCGGAGGTCATCC	0.408																																						ENST00000304337.2																			0				breast(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	26						c.(784-786)tcC>tcT		tigger transposable element derived 4							129	130	130					4																	153691371		2203	4300	6503	SO:0001819	synonymous_variant	201798				regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	chromatin binding|DNA binding	g.chr4:153691371G>A	AK058054	CCDS34079.1	4q31.23	2008-02-05							18335	protein-coding gene	gene with protein product							Standard	NM_145720		Approved		uc003imy.3	Q8IY51		ENST00000304337.2:c.786C>T	4.37:g.153691371G>A							p.S262S	NM_145720.3	NP_663772.1	Q8IY51	TIGD4_HUMAN			2	1606	-	all_hematologic(180;0.093)		262			DDE.		Q96LP5	Silent	SNP	ENST00000304337.2	37	c.786C>T	CCDS34079.1																																																																																				0.408	TIGD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365028.1	NM_145720		30	58	0	0	0	1	0	30	58					A	153691371	G	A	153691371	2	1	435	1	0	0	0	0	0	0	0	1	15895	1103	39	2		2	TIGD4	4	153691371	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	1487980	153691371	37462905	2495	23420											
FHDC1	85462	broad.mit.edu	37	chr4	153864466	153864466	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	acccccaactactcacatgaAcggctacagccaccttggta	12	7	6	16	1	1	1	1	1	0	0	1	1	1	1	4	2	5	2	4	2	5	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:153864466A>G	ENST00000511601.1	+	2	445	c.257A>G	c.(256-258)aAc>aGc	p.N86S	FHDC1_ENST00000260008.3_Missense_Mutation_p.N86S			Q9C0D6	FHDC1_HUMAN	FH2 domain containing 1	86									ARFIP1/FHDC1(2)	NS(2)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	43	all_hematologic(180;0.093)					ACTCACATGAACGGCTACAGC	0.557																																						ENST00000511601.1																		ARFIP1/FHDC1(2)	0				NS(2)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	43						c.(256-258)aAc>aGc		FH2 domain containing 1							64	72	70					4																	153864466		2203	4298	6501	SO:0001583	missense	85462				actin cytoskeleton organization		actin binding	g.chr4:153864466A>G	AB051514	CCDS34081.1	4q31.3	2014-02-12	2007-11-29		ENSG00000137460	ENSG00000137460			29363	protein-coding gene	gene with protein product						15138637	Standard	NM_033393		Approved	KIAA1727	uc003inf.2	Q9C0D6	OTTHUMG00000161452	ENST00000511601.1:c.257A>G	4.37:g.153864466A>G	ENSP00000427567:p.Asn86Ser					FHDC1_ENST00000260008.3_Missense_Mutation_p.N86S	p.N86S			Q9C0D6	FHDC1_HUMAN			2	445	+	all_hematologic(180;0.093)		86						Missense_Mutation	SNP	ENST00000511601.1	37	c.257A>G	CCDS34081.1	.	.	.	.	.	.	.	.	.	.	A	11.56	1.675320	0.29783	.	.	ENSG00000137460	ENST00000511601;ENST00000260008	T;T	0.31510	1.49;1.49	5.32	5.32	0.75619	Actin-binding FH2 (1);	0.727653	0.12120	N	0.497708	T	0.33440	0.0863	M	0.71581	2.175	0.42398	D	0.992556	P	0.38788	0.647	B	0.32465	0.146	T	0.20140	-1.0284	10	0.22706	T	0.39	.	15.5868	0.76489	1.0:0.0:0.0:0.0	.	86	Q9C0D6	FHDC1_HUMAN	S	86	ENSP00000427567:N86S;ENSP00000260008:N86S	ENSP00000260008:N86S	N	+	2	0	FHDC1	154083916	0.969000	0.33509	0.092000	0.20876	0.633000	0.38033	4.112000	0.57845	2.146000	0.66826	0.460000	0.39030	AAC		0.557	FHDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364981.2	NM_033393		22	40	0	0	0	1	0	22	40					G	153864466	A	G	153864466	3	3	435	1	0	0	0	0	1	0	0	0	5876	43	2	4	259	4	FHDC1	4	153864466	Missense_Mutation	SNP	A	TCGA-XK-AAIW-01A-11D-A41K-08	173095	153864466	37289810	2496	23421											
FHDC1	85462	broad.mit.edu	37	chr4	153875374	153875374	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cattgtcttttcaaggtctcCtcggtccattgtagaagata	9	15	8	9	1	3	2	1	0	2	2	6	2	4	2	2	2	0	1	2	2	4	6			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:153875374C>A	ENST00000511601.1	+	4	754	c.566C>A	c.(565-567)cCt>cAt	p.P189H	FHDC1_ENST00000260008.3_Missense_Mutation_p.P189H			Q9C0D6	FHDC1_HUMAN	FH2 domain containing 1	189	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.								ARFIP1/FHDC1(2)	NS(2)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	43	all_hematologic(180;0.093)					TCAAGGTCTCCTCGGTCCATT	0.428																																						ENST00000511601.1																		ARFIP1/FHDC1(2)	0				NS(2)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	43						c.(565-567)cCt>cAt		FH2 domain containing 1							87	88	88					4																	153875374		2203	4300	6503	SO:0001583	missense	85462				actin cytoskeleton organization		actin binding	g.chr4:153875374C>A	AB051514	CCDS34081.1	4q31.3	2014-02-12	2007-11-29		ENSG00000137460	ENSG00000137460			29363	protein-coding gene	gene with protein product						15138637	Standard	NM_033393		Approved	KIAA1727	uc003inf.2	Q9C0D6	OTTHUMG00000161452	ENST00000511601.1:c.566C>A	4.37:g.153875374C>A	ENSP00000427567:p.Pro189His					FHDC1_ENST00000260008.3_Missense_Mutation_p.P189H	p.P189H			Q9C0D6	FHDC1_HUMAN			4	754	+	all_hematologic(180;0.093)		189			FH2.			Missense_Mutation	SNP	ENST00000511601.1	37	c.566C>A	CCDS34081.1	.	.	.	.	.	.	.	.	.	.	C	17.02	3.281283	0.59758	.	.	ENSG00000137460	ENST00000511601;ENST00000260008	T;T	0.18016	2.24;2.24	5.9	5.9	0.94986	Actin-binding FH2/DRF autoregulatory (1);Actin-binding FH2 (3);	0.343652	0.33792	N	0.004553	T	0.34774	0.0909	L	0.56396	1.775	0.27612	N	0.948624	D	0.89917	1.0	D	0.72982	0.979	T	0.18650	-1.0330	10	0.15952	T	0.53	.	14.4296	0.67240	0.0:0.93:0.0:0.07	.	189	Q9C0D6	FHDC1_HUMAN	H	189	ENSP00000427567:P189H;ENSP00000260008:P189H	ENSP00000260008:P189H	P	+	2	0	FHDC1	154094824	0.995000	0.38212	1.000000	0.80357	0.961000	0.63080	3.254000	0.51477	2.797000	0.96272	0.655000	0.94253	CCT		0.428	FHDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364981.2	NM_033393		24	20	1	0	5.35356e-11	1	5.74024e-11	24	20					A	153875374	C	A	153875374	3	1	435	1	0	0	0	0	1	0	0	0	5876	681	24	5	576	5	FHDC1	4	153875374	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	10908	153875374	37278902	2497	23422											
TRIM2	23321	broad.mit.edu	37	chr4	154215596	154215596	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	taaatgtgcgcaagagtgtgCtgcttatggaattggaggtc	10	12	14	5	1	0	1	0	0	0	1	1	3	0	3	0	3	3	3	0	3	5	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:154215596C>T	ENST00000437508.2	+	5	865	c.664C>T	c.(664-666)Ctg>Ttg	p.L222L	TRIM2_ENST00000338700.5_Silent_p.L249L|TRIM2_ENST00000494872.1_3'UTR	NM_001130067.1	NP_001123539.1	Q9C040	TRIM2_HUMAN	tripartite motif containing 2	222					cell death (GO:0008219)|regulation of neuron apoptotic process (GO:0043523)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)	19	all_hematologic(180;0.093)	Medulloblastoma(177;0.00225)		GBM - Glioblastoma multiforme(119;0.0102)|LUSC - Lung squamous cell carcinoma(193;0.0703)		CAAGAGTGTGCTGCTTATGGA	0.433																																						ENST00000338700.5																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)	19						c.(745-747)Ctg>Ttg		tripartite motif containing 2							136	118	124					4																	154215596		2203	4300	6503	SO:0001819	synonymous_variant	23321					cytoplasm	zinc ion binding	g.chr4:154215596C>T	AF220018	CCDS3781.2, CCDS47147.1	4q31.3	2013-01-09	2011-01-25		ENSG00000109654	ENSG00000109654		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	15974	protein-coding gene	gene with protein product		614141	"tripartite motif-containing 2"			9628581, 11331580	Standard	NM_015271		Approved	KIAA0517, RNF86	uc003inh.2	Q9C040	OTTHUMG00000155991	ENST00000437508.2:c.664C>T	4.37:g.154215596C>T						TRIM2_ENST00000437508.2_Silent_p.L222L|TRIM2_ENST00000494872.1_3'UTR	p.L249L	NM_015271.3	NP_056086.2	Q9C040	TRIM2_HUMAN		GBM - Glioblastoma multiforme(119;0.0102)|LUSC - Lung squamous cell carcinoma(193;0.0703)	5	810	+	all_hematologic(180;0.093)	Medulloblastoma(177;0.00225)	222					D3DP09|O60272|Q9BSI9|Q9UFZ1	Silent	SNP	ENST00000437508.2	37	c.745C>T	CCDS47147.1																																																																																				0.433	TRIM2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342652.1			16	35	0	0	0	1	0	16	35					T	154215596	C	T	154215596	2	4	435	1	0	0	0	0	0	0	0	1	16491	796	28	3		3	TRIM2	4	154215596	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	340222	154215596	36938680	2498	23423											
TRIM2	23321	broad.mit.edu	37	chr4	154216729	154216729	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgatcttaaccaccaacgccGttgcctcagagacagtggcc	10	7	9	15	3	2	1	1	0	1	1	2	3	2	1	5	1	3	1	5	1	2	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:154216729G>A	ENST00000437508.2	+	6	1171	c.970G>A	c.(970-972)Gtt>Att	p.V324I	TRIM2_ENST00000338700.5_Missense_Mutation_p.V351I|TRIM2_ENST00000494872.1_3'UTR	NM_001130067.1	NP_001123539.1	Q9C040	TRIM2_HUMAN	tripartite motif containing 2	324					cell death (GO:0008219)|regulation of neuron apoptotic process (GO:0043523)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)	19	all_hematologic(180;0.093)	Medulloblastoma(177;0.00225)		GBM - Glioblastoma multiforme(119;0.0102)|LUSC - Lung squamous cell carcinoma(193;0.0703)		CACCAACGCCGTTGCCTCAGA	0.607																																						ENST00000338700.5																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)	19						c.(1051-1053)Gtt>Att		tripartite motif containing 2							58	52	54					4																	154216729		2203	4300	6503	SO:0001583	missense	23321					cytoplasm	zinc ion binding	g.chr4:154216729G>A	AF220018	CCDS3781.2, CCDS47147.1	4q31.3	2013-01-09	2011-01-25		ENSG00000109654	ENSG00000109654		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	15974	protein-coding gene	gene with protein product		614141	"tripartite motif-containing 2"			9628581, 11331580	Standard	NM_015271		Approved	KIAA0517, RNF86	uc003inh.2	Q9C040	OTTHUMG00000155991	ENST00000437508.2:c.970G>A	4.37:g.154216729G>A	ENSP00000415812:p.Val324Ile					TRIM2_ENST00000437508.2_Missense_Mutation_p.V324I|TRIM2_ENST00000494872.1_3'UTR	p.V351I	NM_015271.3	NP_056086.2	Q9C040	TRIM2_HUMAN		GBM - Glioblastoma multiforme(119;0.0102)|LUSC - Lung squamous cell carcinoma(193;0.0703)	6	1116	+	all_hematologic(180;0.093)	Medulloblastoma(177;0.00225)	324					D3DP09|O60272|Q9BSI9|Q9UFZ1	Missense_Mutation	SNP	ENST00000437508.2	37	c.1051G>A	CCDS47147.1	.	.	.	.	.	.	.	.	.	.	G	12.05	1.821247	0.32237	.	.	ENSG00000109654	ENST00000437508;ENST00000338700	D;D	0.84944	-1.92;-1.92	5.53	4.68	0.58851	.	0.101717	0.64402	D	0.000002	T	0.78349	0.4269	L	0.46885	1.475	0.53688	D	0.999973	P;P	0.42973	0.796;0.646	B;B	0.32090	0.14;0.071	T	0.77800	-0.2452	10	0.33141	T	0.24	-1.7556	15.9934	0.80223	0.0:0.0:0.8641:0.1359	.	351;324	D3DP09;Q9C040	.;TRIM2_HUMAN	I	324;351	ENSP00000415812:V324I;ENSP00000339659:V351I	ENSP00000339659:V351I	V	+	1	0	TRIM2	154436179	1.000000	0.71417	0.860000	0.33809	0.842000	0.47809	7.505000	0.81655	1.443000	0.47586	0.561000	0.74099	GTT		0.607	TRIM2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342652.1			13	12	0	0	0	1	0	13	12					A	154216729	G	A	154216729	3	1	435	1	0	0	0	0	1	0	0	0	16491	1145	40	1	1073	1	TRIM2	4	154216729	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	1133	154216729	36937547	2499	23424											
TRIM2	23321	broad.mit.edu	37	chr4	154216756	154216756	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cagagacagtggccacgggcGaggggctgcggcagaccatc	9	3	17	12	3	0	2	0	0	0	2	1	4	0	2	2	5	1	2	2	5	0	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:154216756G>A	ENST00000437508.2	+	6	1198	c.997G>A	c.(997-999)Gag>Aag	p.E333K	TRIM2_ENST00000338700.5_Missense_Mutation_p.E360K|TRIM2_ENST00000494872.1_3'UTR	NM_001130067.1	NP_001123539.1	Q9C040	TRIM2_HUMAN	tripartite motif containing 2	333					cell death (GO:0008219)|regulation of neuron apoptotic process (GO:0043523)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)	19	all_hematologic(180;0.093)	Medulloblastoma(177;0.00225)		GBM - Glioblastoma multiforme(119;0.0102)|LUSC - Lung squamous cell carcinoma(193;0.0703)		GGCCACGGGCGAGGGGCTGCG	0.597																																						ENST00000338700.5																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)	19						c.(1078-1080)Gag>Aag		tripartite motif containing 2							47	44	45					4																	154216756		2203	4300	6503	SO:0001583	missense	23321					cytoplasm	zinc ion binding	g.chr4:154216756G>A	AF220018	CCDS3781.2, CCDS47147.1	4q31.3	2013-01-09	2011-01-25		ENSG00000109654	ENSG00000109654		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	15974	protein-coding gene	gene with protein product		614141	"tripartite motif-containing 2"			9628581, 11331580	Standard	NM_015271		Approved	KIAA0517, RNF86	uc003inh.2	Q9C040	OTTHUMG00000155991	ENST00000437508.2:c.997G>A	4.37:g.154216756G>A	ENSP00000415812:p.Glu333Lys					TRIM2_ENST00000437508.2_Missense_Mutation_p.E333K|TRIM2_ENST00000494872.1_3'UTR	p.E360K	NM_015271.3	NP_056086.2	Q9C040	TRIM2_HUMAN		GBM - Glioblastoma multiforme(119;0.0102)|LUSC - Lung squamous cell carcinoma(193;0.0703)	6	1143	+	all_hematologic(180;0.093)	Medulloblastoma(177;0.00225)	333					D3DP09|O60272|Q9BSI9|Q9UFZ1	Missense_Mutation	SNP	ENST00000437508.2	37	c.1078G>A	CCDS47147.1	.	.	.	.	.	.	.	.	.	.	G	33	5.238931	0.95240	.	.	ENSG00000109654	ENST00000437508;ENST00000338700	T;T	0.47528	0.84;0.84	5.53	5.53	0.82687	Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.041854	0.85682	D	0.000000	T	0.71256	0.3318	M	0.87682	2.9	0.80722	D	1	D;D	0.69078	0.997;0.997	P;P	0.59424	0.857;0.857	T	0.74432	-0.3667	10	0.51188	T	0.08	-13.0578	19.8189	0.96583	0.0:0.0:1.0:0.0	.	360;333	D3DP09;Q9C040	.;TRIM2_HUMAN	K	333;360	ENSP00000415812:E333K;ENSP00000339659:E360K	ENSP00000339659:E360K	E	+	1	0	TRIM2	154436206	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	9.375000	0.97178	2.756000	0.94617	0.561000	0.74099	GAG		0.597	TRIM2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342652.1			11	13	0	0	0	1	0	11	13					A	154216756	G	A	154216756	3	1	435	1	0	0	0	0	1	0	0	0	16491	1059	37	2	1100	2	TRIM2	4	154216756	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	27	154216756	36937520	2500	23425											
KIAA0922	23240	broad.mit.edu	37	chr4	154517484	154517484	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttggaaatgaaaagggttggCgtagttttcacacctgctga	11	12	12	6	1	1	2	1	2	0	0	1	3	1	3	1	3	1	4	1	3	4	5	rs143841084		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:154517484C>T	ENST00000409663.3	+	20	2119	c.2067C>T	c.(2065-2067)ggC>ggT	p.G689G	KIAA0922_ENST00000440693.1_Silent_p.G606G|KIAA0922_ENST00000409959.3_Silent_p.G690G	NM_015196.3	NP_056011.3	A2VDJ0	T131L_HUMAN	KIAA0922	689						integral component of membrane (GO:0016021)				breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(16)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	63	all_hematologic(180;0.093)	Renal(120;0.118)				AAAGGGTTGGCGTAGTTTTCA	0.418																																						ENST00000409663.3																			0				breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(16)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						c.(2065-2067)ggC>ggT		KIAA0922							182	160	168					4																	154517484		2203	4300	6503	SO:0001819	synonymous_variant	23240					integral to membrane		g.chr4:154517484C>T	AK096538	CCDS3783.2, CCDS47148.1	4q31.3	2008-02-05			ENSG00000121210	ENSG00000121210			29146	protein-coding gene	gene with protein product						10231032, 11230166	Standard	NM_015196		Approved	DKFZp586H1322, TMEM131L	uc010ipp.3	A2VDJ0	OTTHUMG00000153244	ENST00000409663.3:c.2067C>T	4.37:g.154517484C>T						KIAA0922_ENST00000440693.1_Silent_p.G606G|KIAA0922_ENST00000409959.3_Silent_p.G690G	p.G689G	NM_015196.3	NP_056011.3	A2VDJ0	T131L_HUMAN			20	2119	+	all_hematologic(180;0.093)	Renal(120;0.118)	689					B3KRV3|Q7LGA7|Q86Y92|Q8WU56|Q9H065|Q9Y2D7	Silent	SNP	ENST00000409663.3	37	c.2067C>T	CCDS3783.2																																																																																				0.418	KIAA0922-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000330370.1	NM_015196		38	53	0	0	0	1	0	38	53					T	154517484	C	T	154517484	2	4	435	1	0	0	0	0	0	0	0	1	8201	755	27	1		1	KIAA0922	4	154517484	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	300728	154517484	36636792	2501	23426											
DCHS2	54798	broad.mit.edu	37	chr4	155157215	155157215	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atatccacccagaccactaaGgaggcagttgcatcaccttt	12	9	7	13	0	1	1	1	0	0	1	2	2	2	2	4	2	1	3	4	2	2	4	rs572379226		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:155157215G>T	ENST00000357232.4	-	25	7223	c.7224C>A	c.(7222-7224)tcC>tcA	p.S2408S		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	2408	Cadherin 21. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		AGACCACTAAGGAGGCAGTTG	0.413																																						ENST00000357232.3																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176						c.(7222-7224)tcC>tcA		dachsous cadherin-related 2							82	80	81					4																	155157215		2203	4300	6503	SO:0001819	synonymous_variant	54798				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:155157215G>T	BC140919	CCDS3785.1, CCDS47150.1	4q32.1	2014-06-04	2013-10-04	2004-09-03		ENSG00000197410		"Cadherins / Cadherin-related"	23111	protein-coding gene	gene with protein product	"cadherin-related family member 7"	612486	"cadherin-like 27", "dachsous 2 (Drosophila)"	CDH27, PCDH23		15003449	Standard	NM_017639		Approved	CDHJ, FLJ20047, PCDHJ, CDHR7	uc003inw.2	Q6V1P9		ENST00000357232.4:c.7224C>A	4.37:g.155157215G>T							p.S2408S	NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN		LUSC - Lung squamous cell carcinoma(193;0.107)	25	7223	-	all_hematologic(180;0.208)	Renal(120;0.0854)	2408			Cadherin 21.		B2RU14|E9PC11|Q4W5P9|Q6ZS61|Q9NXU8	Silent	SNP	ENST00000357232.4	37	c.7224C>A	CCDS3785.1																																																																																				0.413	DCHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365281.2	NM_001142552		39	54	1	0	2.52637e-11	1	2.71738e-11	39	54					T	155157215	G	T	155157215	2	4	435	1	0	0	0	0	0	0	0	1	4288	987	35	5		5	DCHS2	4	155157215	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	639731	155157215	35997061	2502	23427											
DCHS2	54798	broad.mit.edu	37	chr4	155254288	155254288	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctctgtcgatggcaaagacGcctggctgcgggctggcgat	6	8	16	11	4	1	1	0	0	1	1	2	3	1	1	1	4	1	4	1	4	1	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:155254288G>A	ENST00000357232.4	-	9	1574	c.1575C>T	c.(1573-1575)ggC>ggT	p.G525G	DCHS2_ENST00000507542.1_5'UTR|DCHS2_ENST00000339452.1_Silent_p.G1024G	NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	525	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		TGGCAAAGACGCCTGGCTGCG	0.682																																						ENST00000357232.3																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176						c.(1573-1575)ggC>ggT		dachsous cadherin-related 2							28	31	30					4																	155254288		2203	4300	6503	SO:0001819	synonymous_variant	54798				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:155254288G>A	BC140919	CCDS3785.1, CCDS47150.1	4q32.1	2014-06-04	2013-10-04	2004-09-03		ENSG00000197410		"Cadherins / Cadherin-related"	23111	protein-coding gene	gene with protein product	"cadherin-related family member 7"	612486	"cadherin-like 27", "dachsous 2 (Drosophila)"	CDH27, PCDH23		15003449	Standard	NM_017639		Approved	CDHJ, FLJ20047, PCDHJ, CDHR7	uc003inw.2	Q6V1P9		ENST00000357232.4:c.1575C>T	4.37:g.155254288G>A						DCHS2_ENST00000339452.1_Silent_p.G1024G|DCHS2_ENST00000507542.1_5'UTR	p.G525G	NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN		LUSC - Lung squamous cell carcinoma(193;0.107)	9	1574	-	all_hematologic(180;0.208)	Renal(120;0.0854)	525			Cadherin 4.		B2RU14|E9PC11|Q4W5P9|Q6ZS61|Q9NXU8	Silent	SNP	ENST00000357232.4	37	c.1575C>T	CCDS3785.1																																																																																				0.682	DCHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365281.2	NM_001142552		7	12	0	0	0	1	0	7	12					A	155254288	G	A	155254288	2	1	435	1	0	0	0	0	0	0	0	1	4288	1074	38	1		1	DCHS2	4	155254288	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	97073	155254288	35899988	2503	23428											
DCHS2	54798	broad.mit.edu	37	chr4	155278424	155278424	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaactgttcattacttccttGtctgctgaaaagttgacagc	11	14	7	9	0	2	2	1	2	1	0	3	2	3	2	1	0	4	3	1	0	4	5	rs372047184		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:155278424G>C	ENST00000357232.4	-	6	746	c.747C>G	c.(745-747)gaC>gaG	p.D249E	DCHS2_ENST00000339452.1_Intron	NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	249	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		ttacttccttgtctgctgaaa	0.438																																						ENST00000357232.3																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176						c.(745-747)gaC>gaG		dachsous cadherin-related 2							131	136	134					4																	155278424		2203	4300	6503	SO:0001583	missense	54798				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:155278424G>C	BC140919	CCDS3785.1, CCDS47150.1	4q32.1	2014-06-04	2013-10-04	2004-09-03		ENSG00000197410		"Cadherins / Cadherin-related"	23111	protein-coding gene	gene with protein product	"cadherin-related family member 7"	612486	"cadherin-like 27", "dachsous 2 (Drosophila)"	CDH27, PCDH23		15003449	Standard	NM_017639		Approved	CDHJ, FLJ20047, PCDHJ, CDHR7	uc003inw.2	Q6V1P9		ENST00000357232.4:c.747C>G	4.37:g.155278424G>C	ENSP00000349768:p.Asp249Glu					DCHS2_ENST00000339452.1_Intron	p.D249E	NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN		LUSC - Lung squamous cell carcinoma(193;0.107)	6	746	-	all_hematologic(180;0.208)	Renal(120;0.0854)	249			Cadherin 2.		B2RU14|E9PC11|Q4W5P9|Q6ZS61|Q9NXU8	Missense_Mutation	SNP	ENST00000357232.4	37	c.747C>G	CCDS3785.1	.	.	.	.	.	.	.	.	.	.	G	0.008	-1.869136	0.00547	.	.	ENSG00000197410	ENST00000357232	T	0.52526	0.66	0.772	0.772	0.18510	Cadherin (1);	.	.	.	.	T	0.25568	0.0622	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.16424	-1.0403	9	0.30078	T	0.28	.	4.7953	0.13269	0.0:0.0:1.0:0.0	.	249	Q6V1P9	PCD23_HUMAN	E	249	ENSP00000349768:D249E	ENSP00000349768:D249E	D	-	3	2	DCHS2	155497874	0.004000	0.15560	0.004000	0.12327	0.003000	0.03518	0.552000	0.23376	0.686000	0.31488	0.430000	0.28490	GAC		0.438	DCHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365281.2	NM_001142552		37	64	0	0	0	1	0	37	64					C	155278424	G	C	155278424	3	2	435	1	0	0	0	0	1	0	0	0	4288	1368	48	5	8179	5	DCHS2	4	155278424	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	24136	155278424	35875852	2504	23429											
LRAT	9227	broad.mit.edu	37	chr4	155665867	155665867	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ggtcaatcacctggacgagtCcctccagaaaaaggcactgc	12	6	10	13	1	2	1	2	0	0	1	4	3	4	2	3	3	1	1	3	3	3	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:155665867C>T	ENST00000336356.3	+	2	642	c.389C>T	c.(388-390)tCc>tTc	p.S130F	LRAT_ENST00000507827.1_Missense_Mutation_p.S130F	NM_004744.3	NP_004735.2	O95237	LRAT_HUMAN	lecithin retinol acyltransferase (phosphatidylcholine--retinol O-acyltransferase)	130					phototransduction, visible light (GO:0007603)|retinoic acid metabolic process (GO:0042573)|retinoid metabolic process (GO:0001523)|retinol metabolic process (GO:0042572)|visual perception (GO:0007601)|vitamin A metabolic process (GO:0006776)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|multivesicular body (GO:0005771)|perinuclear region of cytoplasm (GO:0048471)|rough endoplasmic reticulum (GO:0005791)	phosphatidylcholine-retinol O-acyltransferase activity (GO:0047173)|retinoic acid binding (GO:0001972)|retinol binding (GO:0019841)|transferase activity, transferring acyl groups (GO:0016746)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)	16	all_hematologic(180;0.215)	Renal(120;0.0458)			Vitamin A(DB00162)	CTGGACGAGTCCCTCCAGAAA	0.582																																						ENST00000336356.3																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)	16						c.(388-390)tCc>tTc		lecithin retinol acyltransferase (phosphatidylcholine--retinol O-acyltransferase)	Vitamin A(DB00162)						59	63	62					4																	155665867		2203	4300	6503	SO:0001583	missense	9227				response to stimulus|retinoid metabolic process|steroid metabolic process|visual perception	endoplasmic reticulum membrane|integral to membrane|multivesicular body|perinuclear region of cytoplasm|rough endoplasmic reticulum	phosphatidylcholine-retinol O-acyltransferase activity	g.chr4:155665867C>T	AF071510	CCDS3789.1	4q32.1	2014-01-28			ENSG00000121207	ENSG00000121207	2.3.1.135		6685	protein-coding gene	gene with protein product		604863				9920938	Standard	XM_006714412		Approved	LCA14	uc003ion.1	O95237	OTTHUMG00000161418	ENST00000336356.3:c.389C>T	4.37:g.155665867C>T	ENSP00000337224:p.Ser130Phe					LRAT_ENST00000507827.1_Missense_Mutation_p.S130F	p.S130F	NM_004744.3	NP_004735.2	O95237	LRAT_HUMAN			2	642	+	all_hematologic(180;0.215)	Renal(120;0.0458)	130					A8K983|Q8N716	Missense_Mutation	SNP	ENST00000336356.3	37	c.389C>T	CCDS3789.1	.	.	.	.	.	.	.	.	.	.	C	16.00	2.998368	0.54147	.	.	ENSG00000121207	ENST00000507827;ENST00000336356	T;T	0.47528	0.84;0.84	5.49	1.67	0.24075	NC (1);	1.111380	0.06411	N	0.720638	T	0.39572	0.1083	L	0.45581	1.43	0.09310	N	1	P	0.48016	0.904	B	0.43251	0.413	T	0.32981	-0.9886	10	0.56958	D	0.05	-8.9903	0.6569	0.00836	0.2655:0.3483:0.1297:0.2565	.	130	O95237	LRAT_HUMAN	F	130	ENSP00000426761:S130F;ENSP00000337224:S130F	ENSP00000337224:S130F	S	+	2	0	LRAT	155885317	0.000000	0.05858	0.805000	0.32314	0.971000	0.66376	0.530000	0.23036	0.279000	0.22186	0.644000	0.83932	TCC		0.582	LRAT-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365246.1	NM_004744		5	21	0	0	0	1	0	5	21					T	155665867	C	T	155665867	3	4	435	1	0	0	0	0	1	0	0	0	8930	855	30	3	391	3	LRAT	4	155665867	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	387443	155665867	35488409	2505	23430											
PDGFC	56034	broad.mit.edu	37	chr4	157771538	157771538	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttccattagtagacacagtaAtaattctctcatgctgagga	13	13	7	8	0	2	2	1	1	1	1	4	3	3	3	1	1	1	3	1	1	4	6			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:157771538A>G	ENST00000502773.1	-	2	639	c.149T>C	c.(148-150)aTt>aCt	p.I50T	PDGFC_ENST00000422544.2_Missense_Mutation_p.I50T|PDGFC_ENST00000542208.1_5'Flank|PDGFC_ENST00000541126.1_Intron	NM_016205.2	NP_057289.1	Q9NRA1	PDGFC_HUMAN	platelet derived growth factor C	50	CUB. {ECO:0000255|PROSITE- ProRule:PRU00059}.				activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|cellular response to amino acid stimulus (GO:0071230)|central nervous system development (GO:0007417)|organ morphogenesis (GO:0009887)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of cell division (GO:0051781)|positive regulation of DNA replication (GO:0045740)|positive regulation of fibroblast proliferation (GO:0048146)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	platelet-derived growth factor receptor binding (GO:0005161)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_hematologic(180;0.24)	Renal(120;0.0458)		KIRC - Kidney renal clear cell carcinoma(143;0.08)|Kidney(143;0.0977)|COAD - Colon adenocarcinoma(41;0.212)		AGACACAGTAATAATTCTCTC	0.343																																						ENST00000502773.1																			0				central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19						c.(148-150)aTt>aCt		platelet derived growth factor C							67	63	65					4																	157771538		2203	4300	6503	SO:0001583	missense	56034				central nervous system development|platelet-derived growth factor receptor signaling pathway|positive regulation of cell division|positive regulation of DNA replication|positive regulation of fibroblast proliferation|vascular endothelial growth factor receptor signaling pathway	endoplasmic reticulum lumen|extracellular space|Golgi membrane|nucleus	cell surface binding|growth factor activity|platelet-derived growth factor receptor binding|protein homodimerization activity	g.chr4:157771538A>G	AF091434	CCDS3795.1	4q32	2008-02-05			ENSG00000145431	ENSG00000145431			8801	protein-coding gene	gene with protein product		608452				10858496, 10858548	Standard	NM_016205		Approved	SCDGF, fallotein	uc003iph.2	Q9NRA1	OTTHUMG00000161803	ENST00000502773.1:c.149T>C	4.37:g.157771538A>G	ENSP00000422464:p.Ile50Thr					PDGFC_ENST00000422544.2_Missense_Mutation_p.I50T|PDGFC_ENST00000541126.1_Intron	p.I50T	NM_016205.2	NP_057289.1	Q9NRA1	PDGFC_HUMAN		KIRC - Kidney renal clear cell carcinoma(143;0.08)|Kidney(143;0.0977)|COAD - Colon adenocarcinoma(41;0.212)	2	639	-	all_hematologic(180;0.24)	Renal(120;0.0458)	50			CUB.		B4DU34|B9EGR8|Q4W5M9|Q9UL22	Missense_Mutation	SNP	ENST00000502773.1	37	c.149T>C	CCDS3795.1	.	.	.	.	.	.	.	.	.	.	A	17.47	3.398275	0.62177	.	.	ENSG00000145431	ENST00000502773;ENST00000422544;ENST00000543489	T;T	0.17054	2.37;2.3	5.94	5.94	0.96194	CUB (2);	0.209055	0.47852	D	0.000215	T	0.23965	0.0580	M	0.68593	2.085	0.80722	D	1	P	0.36354	0.549	B	0.37015	0.239	T	0.01839	-1.1263	10	0.72032	D	0.01	-15.1025	14.9689	0.71217	1.0:0.0:0.0:0.0	.	50	Q9NRA1	PDGFC_HUMAN	T	50	ENSP00000422464:I50T;ENSP00000410048:I50T	ENSP00000410048:I50T	I	-	2	0	PDGFC	157990988	1.000000	0.71417	0.999000	0.59377	0.987000	0.75469	8.707000	0.91367	2.279000	0.76181	0.459000	0.35465	ATT		0.343	PDGFC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366123.1			16	32	0	0	0	1	0	16	32					G	157771538	A	G	157771538	3	3	435	1	0	0	0	0	1	0	0	0	11659	101	4	4	908	4	PDGFC	4	157771538	Missense_Mutation	SNP	A	TCGA-XK-AAIW-01A-11D-A41K-08	2105671	157771538	33382738	2506	23431											
TMEM144	55314	broad.mit.edu	37	chr4	159154132	159154132	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccactccattaataacagagCatgtgagtatagtatgagag	15	10	9	7	0	0	3	0	2	0	2	1	4	1	3	2	0	2	3	2	0	5	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:159154132C>A	ENST00000296529.6	+	7	1013	c.493C>A	c.(493-495)Cat>Aat	p.H165N	TMEM144_ENST00000514558.1_Missense_Mutation_p.H165N	NM_018342.4	NP_060812.2	Q7Z5S9	TM144_HUMAN	transmembrane protein 144	165						integral component of membrane (GO:0016021)				autonomic_ganglia(1)|endometrium(1)|large_intestine(7)|lung(9)|prostate(1)	19	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.0539)		AATAACAGAGCATGTGAGTAT	0.284																																						ENST00000514558.1																			0				autonomic_ganglia(1)|endometrium(1)|large_intestine(7)|lung(9)|prostate(1)	19						c.(493-495)Cat>Aat		transmembrane protein 144							73	72	72					4																	159154132		2203	4295	6498	SO:0001583	missense	55314					integral to membrane		g.chr4:159154132C>A	AK002017	CCDS3799.1	4q32.1	2008-02-05			ENSG00000164124	ENSG00000164124			25633	protein-coding gene	gene with protein product						12477932	Standard	NM_018342		Approved	FLJ11155	uc003ipx.3	Q7Z5S9	OTTHUMG00000162013	ENST00000296529.6:c.493C>A	4.37:g.159154132C>A	ENSP00000296529:p.His165Asn					TMEM144_ENST00000296529.6_Missense_Mutation_p.H165N	p.H165N			Q7Z5S9	TM144_HUMAN		COAD - Colon adenocarcinoma(41;0.0539)	6	2289	+	all_hematologic(180;0.24)	Renal(120;0.0854)	165					D3DP24|Q49A05|Q9NUT3	Missense_Mutation	SNP	ENST00000296529.6	37	c.493C>A	CCDS3799.1	.	.	.	.	.	.	.	.	.	.	C	9.929	1.214212	0.22289	.	.	ENSG00000164124	ENST00000508243;ENST00000296529;ENST00000514558	T;T;T	0.42131	0.98;0.98;0.98	5.58	5.58	0.84498	.	0.664430	0.15018	N	0.285179	T	0.34513	0.0900	L	0.38531	1.155	0.20638	N	0.999878	B	0.26147	0.143	B	0.24394	0.053	T	0.13818	-1.0495	10	0.19147	T	0.46	-43.7008	15.0683	0.72014	0.0:1.0:0.0:0.0	.	165	Q7Z5S9	TM144_HUMAN	N	165	ENSP00000422297:H165N;ENSP00000296529:H165N;ENSP00000426211:H165N	ENSP00000296529:H165N	H	+	1	0	TMEM144	159373582	0.189000	0.23263	0.849000	0.33467	0.800000	0.45204	1.092000	0.30927	2.628000	0.89032	0.591000	0.81541	CAT		0.284	TMEM144-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365597.1	NM_018342		23	34	1	0	1.66031e-10	1	1.77558e-10	23	34					A	159154132	C	A	159154132	3	1	435	1	0	0	0	0	1	0	0	0	16055	710	25	5	511	5	TMEM144	4	159154132	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	1382594	159154132	32000144	2507	23432											
FNIP2	57600	broad.mit.edu	37	chr4	159782886	159782886	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cctcccagtcagtgaacatgCtggccaaaacacatccgtat	12	8	7	14	1	1	1	1	1	0	0	3	1	3	1	4	1	3	2	4	1	4	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:159782886C>T	ENST00000264433.6	+	12	1498	c.1423C>T	c.(1423-1425)Ctg>Ttg	p.L475L	FNIP2_ENST00000379346.3_Silent_p.L498L	NM_020840.1	NP_065891.1	Q9P278	FNIP2_HUMAN	folliculin interacting protein 2	475					intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein phosphorylation (GO:0006468)|regulation of protein phosphorylation (GO:0001932)	cytoplasm (GO:0005737)|microtubule organizing center (GO:0005815)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)	9	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.00936)		AGTGAACATGCTGGCCAAAAC	0.468																																						ENST00000264433.6																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)	9						c.(1423-1425)Ctg>Ttg		folliculin interacting protein 2							150	144	146					4																	159782886		1948	4139	6087	SO:0001819	synonymous_variant	57600				DNA damage response, signal transduction resulting in induction of apoptosis|protein phosphorylation|regulation of protein phosphorylation	cytoplasm	protein binding	g.chr4:159782886C>T	AB040883	CCDS47155.1	4q32.1	2012-10-31			ENSG00000052795	ENSG00000052795			29280	protein-coding gene	gene with protein product	"O6-methylguanine-induced apoptosis 1"	612768				18403135	Standard	NM_020840		Approved	KIAA1450, FNIPL, MAPO1	uc003iqe.4	Q9P278	OTTHUMG00000161983	ENST00000264433.6:c.1423C>T	4.37:g.159782886C>T						FNIP2_ENST00000379346.3_Silent_p.L498L	p.L475L	NM_020840.1	NP_065891.1	Q9P278	FNIP2_HUMAN		COAD - Colon adenocarcinoma(41;0.00936)	12	1498	+	all_hematologic(180;0.24)		475					Q05DC3|Q96I31|Q9H994	Silent	SNP	ENST00000264433.6	37	c.1423C>T	CCDS47155.1																																																																																				0.468	FNIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366602.1	NM_020840		42	80	0	0	0	1	0	42	80					T	159782886	C	T	159782886	2	4	435	1	0	0	0	0	0	0	0	1	5976	796	28	3		3	FNIP2	4	159782886	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	628754	159782886	31371390	2508	23433											
FNIP2	57600	broad.mit.edu	37	chr4	159790204	159790204	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gaggcagcagaaacgacatgGcagcagatattgctgggcag	13	5	15	8	1	0	2	0	0	0	2	0	4	0	2	0	3	4	6	0	3	2	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:159790204G>A	ENST00000264433.6	+	13	2491	c.2416G>A	c.(2416-2418)Gca>Aca	p.A806T	FNIP2_ENST00000379346.3_Missense_Mutation_p.A829T	NM_020840.1	NP_065891.1	Q9P278	FNIP2_HUMAN	folliculin interacting protein 2	806	Interaction with PRKAA1.				intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein phosphorylation (GO:0006468)|regulation of protein phosphorylation (GO:0001932)	cytoplasm (GO:0005737)|microtubule organizing center (GO:0005815)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)	9	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.00936)		AAACGACATGGCAGCAGATAT	0.587																																						ENST00000264433.6																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)	9						c.(2416-2418)Gca>Aca		folliculin interacting protein 2							89	94	92					4																	159790204		2142	4261	6403	SO:0001583	missense	57600				DNA damage response, signal transduction resulting in induction of apoptosis|protein phosphorylation|regulation of protein phosphorylation	cytoplasm	protein binding	g.chr4:159790204G>A	AB040883	CCDS47155.1	4q32.1	2012-10-31			ENSG00000052795	ENSG00000052795			29280	protein-coding gene	gene with protein product	"O6-methylguanine-induced apoptosis 1"	612768				18403135	Standard	NM_020840		Approved	KIAA1450, FNIPL, MAPO1	uc003iqe.4	Q9P278	OTTHUMG00000161983	ENST00000264433.6:c.2416G>A	4.37:g.159790204G>A	ENSP00000264433:p.Ala806Thr					FNIP2_ENST00000379346.3_Missense_Mutation_p.A829T	p.A806T	NM_020840.1	NP_065891.1	Q9P278	FNIP2_HUMAN		COAD - Colon adenocarcinoma(41;0.00936)	13	2491	+	all_hematologic(180;0.24)		806			Interaction with PRKAA1.		Q05DC3|Q96I31|Q9H994	Missense_Mutation	SNP	ENST00000264433.6	37	c.2416G>A	CCDS47155.1	.	.	.	.	.	.	.	.	.	.	G	9.320	1.057842	0.19987	.	.	ENSG00000052795	ENST00000264433;ENST00000379346	T;T	0.22743	1.94;1.94	5.18	-0.186	0.13272	.	2.209180	0.01935	N	0.041506	T	0.07052	0.0179	N	0.00538	-1.39	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.33445	-0.9868	9	.	.	.	.	10.5696	0.45192	0.4968:0.0:0.5032:0.0	.	806	Q9P278	FNIP2_HUMAN	T	806;829	ENSP00000264433:A806T;ENSP00000368651:A829T	.	A	+	1	0	FNIP2	160009654	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.011000	0.13264	-0.312000	0.08741	-0.880000	0.02959	GCA		0.587	FNIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366602.1	NM_020840		42	52	0	0	0	1	0	42	52					A	159790204	G	A	159790204	3	1	435	1	0	0	0	0	1	0	0	0	5976	1203	42	3	2466	3	FNIP2	4	159790204	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	7318	159790204	31364072	2509	23434											
RAPGEF2	9693	broad.mit.edu	37	chr4	160277143	160277143	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgtggcccttcagagatcgcGgatggtcgcacgatcctccg	6	8	13	14	6	1	1	1	0	0	1	5	4	3	2	3	3	0	1	3	3	0	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:160277143G>A	ENST00000264431.4	+	23	4726	c.4307G>A	c.(4306-4308)cGg>cAg	p.R1436Q		NM_014247.2	NP_055062.1	Q9Y4G8	RPGF2_HUMAN	Rap guanine nucleotide exchange factor (GEF) 2	1436					adenylate cyclase-activating adrenergic receptor signaling pathway (GO:0071880)|blood vessel development (GO:0001568)|brain-derived neurotrophic factor receptor signaling pathway (GO:0031547)|cAMP-mediated signaling (GO:0019933)|cellular response to cAMP (GO:0071320)|cellular response to cGMP (GO:0071321)|cellular response to nerve growth factor stimulus (GO:1990090)|establishment of endothelial barrier (GO:0061028)|forebrain neuron development (GO:0021884)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|MAPK cascade (GO:0000165)|negative regulation of cell proliferation (GO:0008285)|negative regulation of dendrite morphogenesis (GO:0050774)|negative regulation of melanin biosynthetic process (GO:0048022)|nerve growth factor signaling pathway (GO:0038180)|neuron migration (GO:0001764)|neuron projection development (GO:0031175)|neuropeptide signaling pathway (GO:0007218)|positive regulation of cAMP-dependent protein kinase activity (GO:2000481)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of dendritic cell apoptotic process (GO:2000670)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron migration (GO:2001224)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein binding (GO:0032092)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of Rap GTPase activity (GO:0032854)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of vasculogenesis (GO:2001214)|Rap protein signal transduction (GO:0032486)|regulation of cell junction assembly (GO:1901888)|regulation of synaptic plasticity (GO:0048167)|small GTPase mediated signal transduction (GO:0007264)|ventricular system development (GO:0021591)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|synapse (GO:0045202)	beta-1 adrenergic receptor binding (GO:0031697)|calcium ion binding (GO:0005509)|cAMP binding (GO:0030552)|diacylglycerol binding (GO:0019992)|PDZ domain binding (GO:0030165)|Rap GTPase activator activity (GO:0046582)|Rap guanyl-nucleotide exchange factor activity (GO:0017034)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|signal transducer activity (GO:0004871)|WW domain binding (GO:0050699)			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	70	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.0817)		CAGAGATCGCGGATGGTCGCA	0.587																																						ENST00000264431.4																			0				breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	70						c.(4306-4308)cGg>cAg		Rap guanine nucleotide exchange factor (GEF) 2							33	36	35					4																	160277143		2125	4231	6356	SO:0001583	missense	9693				cAMP-mediated signaling|MAPKKK cascade|small GTPase mediated signal transduction	integral to plasma membrane|intracellular	calcium ion binding|diacylglycerol binding|Rap GTPase activator activity|Rap guanyl-nucleotide exchange factor activity|signal transducer activity	g.chr4:160277143G>A	AB002311	CCDS43277.1	4q32.1	2004-03-01	2004-03-01	2004-03-01					16854	protein-coding gene	gene with protein product	"Rap GEP"	609530	"PDZ domain containing guanine nucleotide exchange factor (GEF) 1"	PDZGEF1		9205841, 10934204	Standard	NM_014247		Approved	PDZ-GEF1, RA-GEF, DKFZP586O1422, KIAA0313	uc003iqg.4	Q9Y4G8		ENST00000264431.4:c.4307G>A	4.37:g.160277143G>A	ENSP00000264431:p.Arg1436Gln						p.R1436Q	NM_014247.2	NP_055062.1	Q9Y4G8	RPGF2_HUMAN		COAD - Colon adenocarcinoma(41;0.0817)	23	4726	+	all_hematologic(180;0.24)		1436					D3DP27	Missense_Mutation	SNP	ENST00000264431.4	37	c.4307G>A	CCDS43277.1	.	.	.	.	.	.	.	.	.	.	G	18.28	3.588916	0.66105	.	.	ENSG00000109756	ENST00000264431	T	0.47869	0.83	5.56	5.56	0.83823	.	0.000000	0.85682	D	0.000000	T	0.44746	0.1308	L	0.46157	1.445	0.58432	D	0.999999	P	0.47762	0.9	B	0.38755	0.281	T	0.50389	-0.8834	10	0.59425	D	0.04	.	19.504	0.95108	0.0:0.0:1.0:0.0	.	1436	Q9Y4G8	RPGF2_HUMAN	Q	1436	ENSP00000264431:R1436Q	ENSP00000264431:R1436Q	R	+	2	0	RAPGEF2	160496593	1.000000	0.71417	0.925000	0.36789	0.018000	0.09664	9.001000	0.93568	2.606000	0.88127	0.563000	0.77884	CGG		0.587	RAPGEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364980.2	NM_014247		5	8	0	0	0	1	0	5	8					A	160277143	G	A	160277143	3	1	435	1	0	0	0	0	1	0	0	0	13044	1116	39	2	4397	2	RAPGEF2	4	160277143	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	486939	160277143	30877133	2510	23435											
NPY1R	4886	broad.mit.edu	37	chr4	164247095	164247095	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	taagacaacctatgagagtcCgatggaaattgatcaaagca	17	8	9	7	1	1	3	1	2	0	2	2	6	2	4	2	1	2	1	2	1	5	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:164247095C>T	ENST00000296533.2	-	2	1143	c.612G>A	c.(610-612)tcG>tcA	p.S204S	NPY1R_ENST00000509586.1_Intron	NM_000909.5	NP_000900.1	P25929	NPY1R_HUMAN	neuropeptide Y receptor Y1	204					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|feeding behavior (GO:0007631)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|glucose metabolic process (GO:0006006)|locomotory behavior (GO:0007626)|neuropeptide signaling pathway (GO:0007218)|outflow tract morphogenesis (GO:0003151)|regulation of blood pressure (GO:0008217)|regulation of multicellular organism growth (GO:0040014)|sensory perception of pain (GO:0019233)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neuropeptide Y receptor activity (GO:0004983)|pancreatic polypeptide receptor activity (GO:0001602)|peptide YY receptor activity (GO:0001601)			breast(1)|cervix(1)|large_intestine(4)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)	30	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				TATGAGAGTCCGATGGAAATT	0.383																																						ENST00000296533.2																			0				breast(1)|cervix(1)|large_intestine(4)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)	30						c.(610-612)tcG>tcA		neuropeptide Y receptor Y1							85	74	78					4																	164247095		2203	4300	6503	SO:0001819	synonymous_variant	0				inhibition of adenylate cyclase activity by G-protein signaling pathway|outflow tract morphogenesis	integral to plasma membrane	protein binding	g.chr4:164247095C>T		CCDS34089.1	4q31.3-q32	2012-08-08				ENSG00000164128		"GPCR / Class A : Neuropeptide receptors : Y"	7956	protein-coding gene	gene with protein product		162641		NPYR		8095935	Standard	NM_000909		Approved		uc003iqm.2	P25929		ENST00000296533.2:c.612G>A	4.37:g.164247095C>T						NPY1R_ENST00000509586.1_Intron	p.S204S	NM_000909.5	NP_000900.1	P25929	NPY1R_HUMAN			2	1143	-	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)	204					B2R6H5	Silent	SNP	ENST00000296533.2	37	c.612G>A	CCDS34089.1																																																																																				0.383	NPY1R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364685.1			6	25	0	0	0	1	0	6	25					T	164247095	C	T	164247095	2	4	435	1	0	0	0	0	0	0	0	1	10608	639	23	2		2	NPY1R	4	164247095	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	3969952	164247095	26907181	2511	23436											
NPY1R	4886	broad.mit.edu	37	chr4	164247165	164247165	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttacattttggaacggctcaTcagtcattacttggtagatc	10	15	8	8	1	3	1	3	0	0	1	4	2	3	2	0	3	3	2	0	3	4	6			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:164247165T>C	ENST00000296533.2	-	2	1073	c.542A>G	c.(541-543)gAt>gGt	p.D181G	NPY1R_ENST00000509586.1_Intron	NM_000909.5	NP_000900.1	P25929	NPY1R_HUMAN	neuropeptide Y receptor Y1	181					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|feeding behavior (GO:0007631)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|glucose metabolic process (GO:0006006)|locomotory behavior (GO:0007626)|neuropeptide signaling pathway (GO:0007218)|outflow tract morphogenesis (GO:0003151)|regulation of blood pressure (GO:0008217)|regulation of multicellular organism growth (GO:0040014)|sensory perception of pain (GO:0019233)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neuropeptide Y receptor activity (GO:0004983)|pancreatic polypeptide receptor activity (GO:0001602)|peptide YY receptor activity (GO:0001601)			breast(1)|cervix(1)|large_intestine(4)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)	30	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				GAACGGCTCATCAGTCATTAC	0.413																																						ENST00000296533.2																			0				breast(1)|cervix(1)|large_intestine(4)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)	30						c.(541-543)gAt>gGt		neuropeptide Y receptor Y1							122	112	115					4																	164247165		2203	4300	6503	SO:0001583	missense	0				inhibition of adenylate cyclase activity by G-protein signaling pathway|outflow tract morphogenesis	integral to plasma membrane	protein binding	g.chr4:164247165T>C		CCDS34089.1	4q31.3-q32	2012-08-08				ENSG00000164128		"GPCR / Class A : Neuropeptide receptors : Y"	7956	protein-coding gene	gene with protein product		162641		NPYR		8095935	Standard	NM_000909		Approved		uc003iqm.2	P25929		ENST00000296533.2:c.542A>G	4.37:g.164247165T>C	ENSP00000354652:p.Asp181Gly					NPY1R_ENST00000509586.1_Intron	p.D181G	NM_000909.5	NP_000900.1	P25929	NPY1R_HUMAN			2	1073	-	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)	181					B2R6H5	Missense_Mutation	SNP	ENST00000296533.2	37	c.542A>G	CCDS34089.1	.	.	.	.	.	.	.	.	.	.	T	15.82	2.946877	0.53186	.	.	ENSG00000164128	ENST00000296533;ENST00000512819	T;T	0.72282	-0.64;0.42	5.84	5.84	0.93424	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.80204	0.4580	M	0.87456	2.885	0.80722	D	1	P	0.44309	0.832	P	0.47402	0.546	T	0.81688	-0.0819	10	0.40728	T	0.16	.	16.2262	0.82293	0.0:0.0:0.0:1.0	.	181	P25929	NPY1R_HUMAN	G	181;3	ENSP00000354652:D181G;ENSP00000421618:D3G	ENSP00000354652:D181G	D	-	2	0	NPY1R	164466615	1.000000	0.71417	0.962000	0.40283	0.553000	0.35397	7.180000	0.77674	2.237000	0.73441	0.533000	0.62120	GAT		0.413	NPY1R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364685.1			13	31	0	0	0	1	0	13	31					C	164247165	T	C	164247165	3	2	435	1	0	0	0	0	1	0	0	0	10608	1435	50	4	620	4	NPY1R	4	164247165	Missense_Mutation	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	70	164247165	26907111	2512	23437											
TKTL2	84076	broad.mit.edu	37	chr4	164393426	164393426	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaatctcaaaattttcttgTggggtataaataactgcagt	13	14	7	7	0	2	0	1	0	2	0	3	0	2	0	1	2	2	2	1	2	7	6			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:164393426T>C	ENST00000280605.3	-	1	1621	c.1461A>G	c.(1459-1461)ccA>ccG	p.P487P		NM_032136.4	NP_115512.3	Q9H0I9	TKTL2_HUMAN	transketolase-like 2	487						cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|transketolase activity (GO:0004802)			breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(42)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	70	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				AATTTTCTTGTGGGGTATAAA	0.463																																						ENST00000280605.3																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(42)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	70						c.(1459-1461)ccA>ccG		transketolase-like 2							112	119	117					4																	164393426		2203	4300	6503	SO:0001819	synonymous_variant	84076					cytoplasm	metal ion binding|transketolase activity	g.chr4:164393426T>C	BC028707	CCDS3805.1	4q32.2	2009-10-06			ENSG00000151005	ENSG00000151005			25313	protein-coding gene	gene with protein product	"similar to transketolase"					11230166	Standard	NM_032136		Approved	FLJ32975, DKFZP434L1717	uc003iqp.4	Q9H0I9	OTTHUMG00000161527	ENST00000280605.3:c.1461A>G	4.37:g.164393426T>C							p.P487P	NM_032136.4	NP_115512.3	Q9H0I9	TKTL2_HUMAN			1	1621	-	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)	487					A4FVB4|Q8NCT0|Q96M82	Silent	SNP	ENST00000280605.3	37	c.1461A>G	CCDS3805.1																																																																																				0.463	TKTL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365207.1	NM_032136		36	48	0	0	0	1	0	36	48					C	164393426	T	C	164393426	2	2	435	1	0	0	0	0	0	0	0	1	15933	1683	59	4		4	TKTL2	4	164393426	Silent	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	146261	164393426	26760850	2513	23438											
TKTL2	84076	broad.mit.edu	37	chr4	164393760	164393760	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgtagcacagcctagtgccAcacttaccatgttttgttca	9	13	8	11	0	1	0	1	0	0	0	1	0	1	0	3	0	4	4	3	0	3	6			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:164393760A>G	ENST00000280605.3	-	1	1287	c.1127T>C	c.(1126-1128)gTg>gCg	p.V376A		NM_032136.4	NP_115512.3	Q9H0I9	TKTL2_HUMAN	transketolase-like 2	376						cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|transketolase activity (GO:0004802)			breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(42)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	70	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				GCCTAGTGCCACACTTACCAT	0.453																																						ENST00000280605.3																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(42)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	70						c.(1126-1128)gTg>gCg		transketolase-like 2							96	96	96					4																	164393760		2203	4300	6503	SO:0001583	missense	84076					cytoplasm	metal ion binding|transketolase activity	g.chr4:164393760A>G	BC028707	CCDS3805.1	4q32.2	2009-10-06			ENSG00000151005	ENSG00000151005			25313	protein-coding gene	gene with protein product	"similar to transketolase"					11230166	Standard	NM_032136		Approved	FLJ32975, DKFZP434L1717	uc003iqp.4	Q9H0I9	OTTHUMG00000161527	ENST00000280605.3:c.1127T>C	4.37:g.164393760A>G	ENSP00000280605:p.Val376Ala						p.V376A	NM_032136.4	NP_115512.3	Q9H0I9	TKTL2_HUMAN			1	1287	-	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)	376					A4FVB4|Q8NCT0|Q96M82	Missense_Mutation	SNP	ENST00000280605.3	37	c.1127T>C	CCDS3805.1	.	.	.	.	.	.	.	.	.	.	A	13.78	2.338269	0.41398	.	.	ENSG00000151005	ENST00000280605	D	0.91011	-2.77	3.84	3.84	0.44239	Transketolase-like, pyrimidine-binding domain (2);	0.070231	0.56097	D	0.000032	D	0.91600	0.7346	L	0.50847	1.595	0.80722	D	1	D	0.59357	0.985	D	0.64595	0.927	D	0.88554	0.3118	10	0.19147	T	0.46	-12.4626	11.2311	0.48912	1.0:0.0:0.0:0.0	.	376	Q9H0I9	TKTL2_HUMAN	A	376	ENSP00000280605:V376A	ENSP00000280605:V376A	V	-	2	0	TKTL2	164613210	1.000000	0.71417	0.995000	0.50966	0.957000	0.61999	8.714000	0.91412	1.973000	0.57446	0.533000	0.62120	GTG		0.453	TKTL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365207.1	NM_032136		30	47	0	0	0	1	0	30	47					G	164393760	A	G	164393760	3	3	435	1	0	0	0	0	1	0	0	0	15933	159	6	4	757	4	TKTL2	4	164393760	Missense_Mutation	SNP	A	TCGA-XK-AAIW-01A-11D-A41K-08	334	164393760	26760516	2514	23439											
TKTL2	84076	broad.mit.edu	37	chr4	164394675	164394675	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcccctggagaggatgaacCggtcgttgtccgggtgttct	5	11	15	10	3	1	2	0	1	1	1	4	4	3	3	4	4	1	2	4	4	1	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:164394675C>T	ENST00000280605.3	-	1	372	c.212G>A	c.(211-213)cGg>cAg	p.R71Q		NM_032136.4	NP_115512.3	Q9H0I9	TKTL2_HUMAN	transketolase-like 2	71						cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|transketolase activity (GO:0004802)	p.R71Q(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(42)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	70	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				GAGGATGAACCGGTCGTTGTC	0.542																																						ENST00000280605.3																			1	Substitution - Missense(1)	p.R71Q(1)	skin(1)	breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(42)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	70						c.(211-213)cGg>cAg		transketolase-like 2							174	118	137					4																	164394675		2203	4300	6503	SO:0001583	missense	84076					cytoplasm	metal ion binding|transketolase activity	g.chr4:164394675C>T	BC028707	CCDS3805.1	4q32.2	2009-10-06			ENSG00000151005	ENSG00000151005			25313	protein-coding gene	gene with protein product	"similar to transketolase"					11230166	Standard	NM_032136		Approved	FLJ32975, DKFZP434L1717	uc003iqp.4	Q9H0I9	OTTHUMG00000161527	ENST00000280605.3:c.212G>A	4.37:g.164394675C>T	ENSP00000280605:p.Arg71Gln						p.R71Q	NM_032136.4	NP_115512.3	Q9H0I9	TKTL2_HUMAN			1	372	-	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)	71					A4FVB4|Q8NCT0|Q96M82	Missense_Mutation	SNP	ENST00000280605.3	37	c.212G>A	CCDS3805.1	.	.	.	.	.	.	.	.	.	.	C	14.31	2.495861	0.44352	.	.	ENSG00000151005	ENST00000280605	T	0.56941	0.43	3.61	2.76	0.32466	Transketolase, N-terminal (1);	0.000000	0.64402	U	0.000002	T	0.78616	0.4311	H	0.96720	3.87	0.51482	D	0.999927	D	0.89917	1.0	D	0.91635	0.999	T	0.81947	-0.0700	10	0.87932	D	0	-9.1964	9.1061	0.36698	0.0:0.889:0.0:0.111	.	71	Q9H0I9	TKTL2_HUMAN	Q	71	ENSP00000280605:R71Q	ENSP00000280605:R71Q	R	-	2	0	TKTL2	164614125	1.000000	0.71417	0.255000	0.24374	0.013000	0.08279	7.169000	0.77578	1.086000	0.41228	0.591000	0.81541	CGG		0.542	TKTL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365207.1	NM_032136		10	13	0	0	0	1	0	10	13					T	164394675	C	T	164394675	3	4	435	1	0	0	0	0	1	0	0	0	15933	652	23	2	1672	2	TKTL2	4	164394675	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	915	164394675	26759601	2515	23440											
TLL1	7092	broad.mit.edu	37	chr4	166935682	166935682	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtctaagcaaaggagatatcGcacaggcaagaaagctgtat	16	7	11	7	1	1	2	0	0	1	2	2	3	1	2	0	2	2	5	0	2	6	3	rs114287070		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:166935682G>A	ENST00000061240.2	+	8	1659	c.1012G>A	c.(1012-1014)Gca>Aca	p.A338T	TLL1_ENST00000507499.1_Missense_Mutation_p.A338T|TLL1_ENST00000513213.1_Missense_Mutation_p.A338T	NM_012464.4	NP_036596.3	O43897	TLL1_HUMAN	tolloid-like 1	338	Metalloprotease. {ECO:0000250}.				cell differentiation (GO:0030154)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)		GBM - Glioblastoma multiforme(119;0.103)		AGGAGATATCGCACAGGCAAG	0.458													G|||	1	0.000199681	0	0	5008	,	,		18850	0.001		0	False		,,,				2504	0					ENST00000061240.2																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	77						c.(1012-1014)Gca>Aca		tolloid-like 1							223	192	202					4																	166935682		2203	4300	6503	SO:0001583	missense	7092				cell differentiation|proteolysis|skeletal system development	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding	g.chr4:166935682G>A	AF282732	CCDS3811.1, CCDS56342.1	4q32-q33	2008-07-29			ENSG00000038295	ENSG00000038295			11843	protein-coding gene	gene with protein product		606742				10516436	Standard	NM_012464		Approved		uc003irh.2	O43897	OTTHUMG00000161112	ENST00000061240.2:c.1012G>A	4.37:g.166935682G>A	ENSP00000061240:p.Ala338Thr					TLL1_ENST00000507499.1_Missense_Mutation_p.A338T|TLL1_ENST00000513213.1_Missense_Mutation_p.A338T	p.A338T	NM_012464.4	NP_036596.3	O43897	TLL1_HUMAN		GBM - Glioblastoma multiforme(119;0.103)	8	1659	+	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)	338			Metalloprotease (By similarity).		B2RMU2|Q96AN3|Q9NQS4	Missense_Mutation	SNP	ENST00000061240.2	37	c.1012G>A	CCDS3811.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	17.05	3.289870	0.59976	.	.	ENSG00000038295	ENST00000061240;ENST00000507499;ENST00000513213	T;T;T	0.63744	-0.06;-0.06;-0.06	5.17	4.32	0.51571	Peptidase M12A, astacin (2);Metallopeptidase, catalytic domain (1);	0.138031	0.47852	U	0.000206	T	0.54806	0.1881	L	0.46885	1.475	0.80722	D	1	B;B	0.18013	0.025;0.009	B;B	0.13407	0.009;0.003	T	0.54357	-0.8306	10	0.41790	T	0.15	.	13.9454	0.64082	0.0751:0.0:0.9249:0.0	.	338;338	E9PD25;O43897	.;TLL1_HUMAN	T	338	ENSP00000061240:A338T;ENSP00000426082:A338T;ENSP00000422937:A338T	ENSP00000061240:A338T	A	+	1	0	TLL1	167155132	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	5.474000	0.66781	2.387000	0.81309	0.557000	0.71058	GCA		0.458	TLL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363821.1			38	59	0	0	0	1	0	38	59					A	166935682	G	A	166935682	3	1	435	1	0	0	0	0	1	0	0	0	15942	1087	38	1	1042	1	TLL1	4	166935682	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	2541007	166935682	24218594	2516	23441											
TLL1	7092	broad.mit.edu	37	chr4	166996046	166996046	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctagacaaagatgaatgctcTaaggataatggtggatgtca	15	10	11	5	0	2	3	1	1	1	2	2	5	2	5	0	3	1	1	0	3	5	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:166996046T>C	ENST00000061240.2	+	17	2852	c.2205T>C	c.(2203-2205)tcT>tcC	p.S735S	TLL1_ENST00000507499.1_Silent_p.S758S	NM_012464.4	NP_036596.3	O43897	TLL1_HUMAN	tolloid-like 1	735	EGF-like 2; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				cell differentiation (GO:0030154)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)		GBM - Glioblastoma multiforme(119;0.103)		ATGAATGCTCTAAGGATAATG	0.383																																						ENST00000061240.2																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	77						c.(2203-2205)tcT>tcC		tolloid-like 1							189	157	168					4																	166996046		2203	4300	6503	SO:0001819	synonymous_variant	7092				cell differentiation|proteolysis|skeletal system development	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding	g.chr4:166996046T>C	AF282732	CCDS3811.1, CCDS56342.1	4q32-q33	2008-07-29			ENSG00000038295	ENSG00000038295			11843	protein-coding gene	gene with protein product		606742				10516436	Standard	NM_012464		Approved		uc003irh.2	O43897	OTTHUMG00000161112	ENST00000061240.2:c.2205T>C	4.37:g.166996046T>C						TLL1_ENST00000507499.1_Silent_p.S758S	p.S735S	NM_012464.4	NP_036596.3	O43897	TLL1_HUMAN		GBM - Glioblastoma multiforme(119;0.103)	17	2852	+	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)	735			EGF-like 2; calcium-binding (Potential).		B2RMU2|Q96AN3|Q9NQS4	Silent	SNP	ENST00000061240.2	37	c.2205T>C	CCDS3811.1																																																																																				0.383	TLL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363821.1			18	70	0	0	0	1	0	18	70					C	166996046	T	C	166996046	2	2	435	1	0	0	0	0	0	0	0	1	15942	1509	53	4		4	TLL1	4	166996046	Silent	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	60364	166996046	24158230	2517	23442											
SPOCK3	50859	broad.mit.edu	37	chr4	167833895	167833895	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctactcctgcttctttcatcCtgttaaaaaaataaagcaag	14	13	4	10	0	2	0	1	0	1	0	4	0	4	0	2	0	3	3	2	0	8	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:167833895C>A	ENST00000357154.3	-	6	497		c.e6-1		SPOCK3_ENST00000511531.1_Splice_Site|SPOCK3_ENST00000541354.1_Splice_Site|SPOCK3_ENST00000504953.1_Splice_Site|SPOCK3_ENST00000421836.2_Splice_Site|SPOCK3_ENST00000507137.1_Splice_Site|SPOCK3_ENST00000357545.4_Splice_Site|SPOCK3_ENST00000512648.1_Splice_Site|SPOCK3_ENST00000512681.1_Intron|SPOCK3_ENST00000534949.1_Splice_Site|SPOCK3_ENST00000506886.1_Splice_Site|SPOCK3_ENST00000541637.1_Intron|SPOCK3_ENST00000510741.1_Splice_Site|SPOCK3_ENST00000511269.1_Splice_Site|SPOCK3_ENST00000535728.1_Splice_Site|SPOCK3_ENST00000502330.1_Splice_Site	NM_016950.2	NP_058646.2	Q9BQ16	TICN3_HUMAN	sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 3						negative regulation of endopeptidase activity (GO:0010951)|peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)|signal transduction (GO:0007165)	extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|glycosaminoglycan binding (GO:0005539)|metalloendopeptidase inhibitor activity (GO:0008191)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	38	all_hematologic(180;0.221)	Prostate(90;0.0181)|Renal(120;0.0184)|Melanoma(52;0.0198)		GBM - Glioblastoma multiforme(119;0.02)		TTCTTTCATCCTGTTAAAAAA	0.408																																						ENST00000357154.3																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	38						c.e6-1		sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 3							80	79	79					4																	167833895		2202	4300	6502	SO:0001630	splice_region_variant	50859				signal transduction	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase inhibitor activity	g.chr4:167833895C>A	AJ001454	CCDS34095.1, CCDS54817.1, CCDS56343.1, CCDS56344.1, CCDS56346.1, CCDS56347.1, CCDS58931.1, CCDS75207.1	4q32.3	2011-10-10			ENSG00000196104	ENSG00000196104			13565	protein-coding gene	gene with protein product		607989				11751414	Standard	NM_001204352		Approved	testican-3	uc003iri.1	Q9BQ16	OTTHUMG00000161190	ENST00000357154.3:c.360-1G>T	4.37:g.167833895C>A						SPOCK3_ENST00000506886.1_Splice_Site|SPOCK3_ENST00000421836.2_Splice_Site|SPOCK3_ENST00000502330.1_Splice_Site|SPOCK3_ENST00000507137.1_Splice_Site|SPOCK3_ENST00000510741.1_Splice_Site|SPOCK3_ENST00000504953.1_Splice_Site|SPOCK3_ENST00000541354.1_Splice_Site|SPOCK3_ENST00000534949.1_Splice_Site|SPOCK3_ENST00000535728.1_Splice_Site|SPOCK3_ENST00000511531.1_Splice_Site|SPOCK3_ENST00000511269.1_Splice_Site|SPOCK3_ENST00000357545.4_Splice_Site|SPOCK3_ENST00000512648.1_Splice_Site|SPOCK3_ENST00000541637.1_Intron|SPOCK3_ENST00000512681.1_Intron		NM_016950.2	NP_058646.2	Q9BQ16	TICN3_HUMAN		GBM - Glioblastoma multiforme(119;0.02)	6	497	-	all_hematologic(180;0.221)	Prostate(90;0.0181)|Renal(120;0.0184)|Melanoma(52;0.0198)						B2R7M7|B3KR67|B4DGK5|B4DHB4|B4DHV3|B4DI46|B4DJY3|E7EP61|F5H099|O75705|Q6UW53|Q96Q26	Splice_Site	SNP	ENST00000357154.3	37		CCDS54817.1	.	.	.	.	.	.	.	.	.	.	C	10.75	1.439241	0.25900	.	.	ENSG00000196104	ENST00000357154;ENST00000357545;ENST00000504953;ENST00000506886;ENST00000511531;ENST00000502330;ENST00000510741;ENST00000511269;ENST00000535728;ENST00000421836;ENST00000534949;ENST00000512648;ENST00000509854	.	.	.	5.23	5.23	0.72850	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.9408	0.86217	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SPOCK3	168070470	1.000000	0.71417	0.976000	0.42696	0.057000	0.15508	5.123000	0.64703	2.599000	0.87857	0.643000	0.83706	.		0.408	SPOCK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364091.1		Intron	12	24	1	0	3.07112e-06	1	3.18879e-06	12	24					A	167833895	C	A	167833895	5	1	435	1	0	0	0	0	0	0	1	0	15080	695	24	5	979	5	SPOCK3	4	167833895	Splice_Site	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	837849	167833895	23320381	2518	23443											
DDX60	55601	broad.mit.edu	37	chr4	169195115	169195115	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaacgtacacgaccaccccGtcgtcgctctccttcagcac	8	7	7	19	5	2	0	1	0	1	0	5	1	2	0	4	0	3	4	4	0	2	2	rs372730500		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:169195115G>A	ENST00000393743.3	-	17	2715	c.2424C>T	c.(2422-2424)gaC>gaT	p.D808D		NM_017631.5	NP_060101.3	Q8IY21	DDX60_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60	808	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				defense response to virus (GO:0051607)|innate immune response (GO:0045087)|positive regulation of MDA-5 signaling pathway (GO:1900245)|positive regulation of RIG-I signaling pathway (GO:1900246)|response to virus (GO:0009615)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)	ATP binding (GO:0005524)|double-stranded DNA binding (GO:0003690)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|single-stranded RNA binding (GO:0003727)			breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|urinary_tract(4)	63		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.0485)		CGACCACCCCGTCGTCGCTCT	0.448																																						ENST00000393743.3																			0				breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|urinary_tract(4)	63						c.(2422-2424)gaC>gaT		DEAD (Asp-Glu-Ala-Asp) box polypeptide 60							153	142	146					4																	169195115		2203	4300	6503	SO:0001819	synonymous_variant	55601						ATP binding|ATP-dependent helicase activity|RNA binding	g.chr4:169195115G>A	AK001649	CCDS34097.1	4q32.3	2010-02-17			ENSG00000137628	ENSG00000137628			25942	protein-coding gene	gene with protein product		613974				12477932	Standard	NM_017631		Approved	FLJ20035	uc003irp.3	Q8IY21	OTTHUMG00000161350	ENST00000393743.3:c.2424C>T	4.37:g.169195115G>A							p.D808D	NM_017631.5	NP_060101.3	Q8IY21	DDX60_HUMAN		GBM - Glioblastoma multiforme(119;0.0485)	17	2715	-		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)	808			Helicase ATP-binding.		Q6PK35|Q9NVE3	Silent	SNP	ENST00000393743.3	37	c.2424C>T	CCDS34097.1																																																																																				0.448	DDX60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364622.1	NM_017631		5	68	0	0	0	1	0	5	68					A	169195115	G	A	169195115	2	1	435	1	0	0	0	0	0	0	0	1	4378	1136	40	1		1	DDX60	4	169195115	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	1361220	169195115	21959161	2519	23444											
DDX60	55601	broad.mit.edu	37	chr4	169209425	169209425	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttcagattccaaaattcaaaAgtatgtatatttcttaagat	16	16	4	5	0	3	2	2	0	1	2	4	2	4	2	1	0	0	2	1	0	8	8			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:169209425A>T	ENST00000393743.3	-	9	1374	c.1083T>A	c.(1081-1083)acT>acA	p.T361T		NM_017631.5	NP_060101.3	Q8IY21	DDX60_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60	361					defense response to virus (GO:0051607)|innate immune response (GO:0045087)|positive regulation of MDA-5 signaling pathway (GO:1900245)|positive regulation of RIG-I signaling pathway (GO:1900246)|response to virus (GO:0009615)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)	ATP binding (GO:0005524)|double-stranded DNA binding (GO:0003690)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|single-stranded RNA binding (GO:0003727)			breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|urinary_tract(4)	63		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.0485)		AAAATTCAAAAGTATGTATAT	0.249																																						ENST00000393743.3																			0				breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|urinary_tract(4)	63						c.(1081-1083)acT>acA		DEAD (Asp-Glu-Ala-Asp) box polypeptide 60							37	42	40					4																	169209425		2157	4258	6415	SO:0001819	synonymous_variant	55601						ATP binding|ATP-dependent helicase activity|RNA binding	g.chr4:169209425A>T	AK001649	CCDS34097.1	4q32.3	2010-02-17			ENSG00000137628	ENSG00000137628			25942	protein-coding gene	gene with protein product		613974				12477932	Standard	NM_017631		Approved	FLJ20035	uc003irp.3	Q8IY21	OTTHUMG00000161350	ENST00000393743.3:c.1083T>A	4.37:g.169209425A>T							p.T361T	NM_017631.5	NP_060101.3	Q8IY21	DDX60_HUMAN		GBM - Glioblastoma multiforme(119;0.0485)	9	1374	-		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)	361					Q6PK35|Q9NVE3	Silent	SNP	ENST00000393743.3	37	c.1083T>A	CCDS34097.1																																																																																				0.249	DDX60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364622.1	NM_017631		14	70	0	0	0	1	0	14	70					T	169209425	A	T	169209425	2	4	435	1	0	0	0	0	0	0	0	1	4378	59	3	5		5	DDX60	4	169209425	Silent	SNP	A	TCGA-XK-AAIW-01A-11D-A41K-08	14310	169209425	21944851	2520	23445											
DDX60	55601	broad.mit.edu	37	chr4	169227857	169227857	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agttcagggaagttgaaataCgcatactcggcatcctgtgg	11	10	12	8	2	1	1	1	1	0	0	3	2	2	2	1	3	2	4	1	3	4	4	rs140161501	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:169227857C>T	ENST00000393743.3	-	5	570	c.279G>A	c.(277-279)gcG>gcA	p.A93A		NM_017631.5	NP_060101.3	Q8IY21	DDX60_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60	93					defense response to virus (GO:0051607)|innate immune response (GO:0045087)|positive regulation of MDA-5 signaling pathway (GO:1900245)|positive regulation of RIG-I signaling pathway (GO:1900246)|response to virus (GO:0009615)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)	ATP binding (GO:0005524)|double-stranded DNA binding (GO:0003690)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|single-stranded RNA binding (GO:0003727)			breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|urinary_tract(4)	63		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.0485)		AGTTGAAATACGCATACTCGG	0.363													C|||	6	0.00119808	0	0	5008	,	,		20529	0		0	False		,,,				2504	0.0061					ENST00000393743.3																			0				breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|urinary_tract(4)	63						c.(277-279)gcG>gcA		DEAD (Asp-Glu-Ala-Asp) box polypeptide 60		C		0,4406		0,0,2203	63	63	63		279	-10.4	0	4	dbSNP_134	63	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	DDX60	NM_017631.5		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		93/1713	169227857	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	55601						ATP binding|ATP-dependent helicase activity|RNA binding	g.chr4:169227857C>T	AK001649	CCDS34097.1	4q32.3	2010-02-17			ENSG00000137628	ENSG00000137628			25942	protein-coding gene	gene with protein product		613974				12477932	Standard	NM_017631		Approved	FLJ20035	uc003irp.3	Q8IY21	OTTHUMG00000161350	ENST00000393743.3:c.279G>A	4.37:g.169227857C>T							p.A93A	NM_017631.5	NP_060101.3	Q8IY21	DDX60_HUMAN		GBM - Glioblastoma multiforme(119;0.0485)	5	570	-		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)	93					Q6PK35|Q9NVE3	Silent	SNP	ENST00000393743.3	37	c.279G>A	CCDS34097.1																																																																																				0.363	DDX60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364622.1	NM_017631		27	31	0	0	0	1	0	27	31					T	169227857	C	T	169227857	2	4	435	1	0	0	0	0	0	0	0	1	4378	523	19	1		1	DDX60	4	169227857	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	18432	169227857	21926419	2521	23446											
DDX60	55601	broad.mit.edu	37	chr4	169229212	169229212	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	taataagatccacaagatagCgttcaaccagatagaagaaa	20	7	7	7	1	1	5	1	0	0	5	2	5	2	5	2	0	2	1	2	0	8	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:169229212C>T	ENST00000393743.3	-	4	500	c.209G>A	c.(208-210)cGc>cAc	p.R70H	snoU13_ENST00000459352.1_RNA	NM_017631.5	NP_060101.3	Q8IY21	DDX60_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60	70					defense response to virus (GO:0051607)|innate immune response (GO:0045087)|positive regulation of MDA-5 signaling pathway (GO:1900245)|positive regulation of RIG-I signaling pathway (GO:1900246)|response to virus (GO:0009615)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)	ATP binding (GO:0005524)|double-stranded DNA binding (GO:0003690)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|single-stranded RNA binding (GO:0003727)			breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|urinary_tract(4)	63		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.0485)		CACAAGATAGCGTTCAACCAG	0.338																																						ENST00000393743.3																			0				breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|urinary_tract(4)	63						c.(208-210)cGc>cAc		DEAD (Asp-Glu-Ala-Asp) box polypeptide 60							101	108	106					4																	169229212		2203	4300	6503	SO:0001583	missense	55601						ATP binding|ATP-dependent helicase activity|RNA binding	g.chr4:169229212C>T	AK001649	CCDS34097.1	4q32.3	2010-02-17			ENSG00000137628	ENSG00000137628			25942	protein-coding gene	gene with protein product		613974				12477932	Standard	NM_017631		Approved	FLJ20035	uc003irp.3	Q8IY21	OTTHUMG00000161350	ENST00000393743.3:c.209G>A	4.37:g.169229212C>T	ENSP00000377344:p.Arg70His						p.R70H	NM_017631.5	NP_060101.3	Q8IY21	DDX60_HUMAN		GBM - Glioblastoma multiforme(119;0.0485)	4	500	-		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)	70					Q6PK35|Q9NVE3	Missense_Mutation	SNP	ENST00000393743.3	37	c.209G>A	CCDS34097.1	.	.	.	.	.	.	.	.	.	.	C	3.993	-0.004024	0.07773	.	.	ENSG00000137628	ENST00000393743;ENST00000514995	T	0.20881	2.04	4.87	2.11	0.27256	.	0.916407	0.09361	N	0.812697	T	0.18593	0.0446	L	0.59436	1.845	0.09310	N	1	B	0.25521	0.128	B	0.17098	0.017	T	0.30621	-0.9972	10	0.41790	T	0.15	.	3.359	0.07179	0.1398:0.5734:0.1355:0.1513	.	70	Q8IY21	DDX60_HUMAN	H	70	ENSP00000377344:R70H	ENSP00000377344:R70H	R	-	2	0	DDX60	169465787	0.000000	0.05858	0.003000	0.11579	0.047000	0.14425	-0.569000	0.05902	0.314000	0.23086	0.557000	0.71058	CGC		0.338	DDX60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364622.1	NM_017631		38	62	0	0	0	1	0	38	62					T	169229212	C	T	169229212	3	4	435	1	0	0	0	0	1	0	0	0	4378	768	27	1	5069	1	DDX60	4	169229212	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	1355	169229212	21925064	2522	23447											
PALLD	23022	broad.mit.edu	37	chr4	169433371	169433371	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	agaggtcaagtcccctggggCcaggcattgctaccaggaca	10	6	13	12	0	1	1	1	0	0	1	2	2	2	2	4	5	2	2	4	5	2	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:169433371C>T	ENST00000505667.1	+	2	889	c.716C>T	c.(715-717)gCc>gTc	p.A239V	PALLD_ENST00000333488.4_Missense_Mutation_p.A116V|PALLD_ENST00000335742.7_5'UTR|PALLD_ENST00000261509.6_Missense_Mutation_p.A239V			Q8WX93	PALLD_HUMAN	palladin, cytoskeletal associated protein	239					cytoskeleton organization (GO:0007010)	actin filament (GO:0005884)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	muscle alpha-actinin binding (GO:0051371)			breast(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(18)|ovary(3)|prostate(3)|skin(4)	48		Prostate(90;0.00996)|Renal(120;0.0203)|Melanoma(52;0.144)		GBM - Glioblastoma multiforme(119;0.204)		TCCCCTGGGGCCAGGCATTGC	0.602									Pancreatic Cancer, Familial Clustering of																												Esophageal Squamous(109;1482 1532 18347 40239 51172)	ENST00000261509.6																			0				breast(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(18)|ovary(3)|prostate(3)|skin(4)	48						c.(715-717)gCc>gTc		palladin, cytoskeletal associated protein							88	87	87					4																	169433371		2203	4300	6503	SO:0001583	missense	23022	Pancreatic Cancer, Familial Clustering of	Familial Cancer Database	incl.: Hereditary Pancreatic Adenocarcinoma, Insulin-Dependent Diabetes Mellitus - Exocrine Insufficiency - Familial Pancreatic Cancer, PNCA1	cytoskeleton organization	actin filament|focal adhesion|lamellipodium|nucleus|ruffle|sarcomere	actin binding|muscle alpha-actinin binding	g.chr4:169433371C>T	AB023209	CCDS34098.1, CCDS54818.1, CCDS54819.1, CCDS54820.1	4q32.3	2013-01-11			ENSG00000129116	ENSG00000129116		"Immunoglobulin superfamily / I-set domain containing"	17068	protein-coding gene	gene with protein product		608092				10231032, 10931874	Standard	NM_001166108		Approved	KIAA0992, SIH002, CGI-151	uc011cjx.2	Q8WX93	OTTHUMG00000161097	ENST00000505667.1:c.716C>T	4.37:g.169433371C>T	ENSP00000425556:p.Ala239Val					PALLD_ENST00000335742.7_5'UTR|PALLD_ENST00000505667.1_Missense_Mutation_p.A239V|PALLD_ENST00000333488.4_Missense_Mutation_p.A116V	p.A239V	NM_001166108.1|NM_016081.3	NP_001159580.1|NP_057165.3	Q8WX93	PALLD_HUMAN		GBM - Glioblastoma multiforme(119;0.204)	2	927	+		Prostate(90;0.00996)|Renal(120;0.0203)|Melanoma(52;0.144)	239					B3KTG2|B5MD56|B7ZMM5|Q7L3E0|Q7Z3W0|Q86WE8|Q8N1M2|Q9UGA0|Q9UQF5|Q9Y2J6|Q9Y3E9	Missense_Mutation	SNP	ENST00000505667.1	37	c.716C>T	CCDS54818.1	.	.	.	.	.	.	.	.	.	.	C	13.78	2.339927	0.41398	.	.	ENSG00000129116	ENST00000261509;ENST00000505667;ENST00000508898;ENST00000333488	T;T;T;T	0.64085	0.03;0.3;-0.08;0.01	5.41	4.55	0.56014	.	0.281280	0.18732	U	0.132703	T	0.45657	0.1353	N	0.24115	0.695	0.24245	N	0.995348	B;B	0.11235	0.004;0.002	B;B	0.09377	0.004;0.004	T	0.32188	-0.9916	10	0.38643	T	0.18	.	8.7242	0.34458	0.1658:0.6617:0.1725:0.0	.	239;239	B7ZMM5;B2RTX2	.;.	V	239;239;218;116	ENSP00000261509:A239V;ENSP00000425556:A239V;ENSP00000423063:A218V;ENSP00000328945:A116V	ENSP00000261509:A239V	A	+	2	0	PALLD	169669946	0.000000	0.05858	0.932000	0.37286	0.391000	0.30476	0.535000	0.23114	1.237000	0.43756	0.591000	0.81541	GCC		0.602	PALLD-002	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000363762.1	NM_016081		16	31	0	0	0	1	0	16	31					T	169433371	C	T	169433371	3	4	435	1	0	0	0	0	1	0	0	0	11407	739	26	3	718	3	PALLD	4	169433371	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	204159	169433371	21720905	2523	23448											
PALLD	23022	broad.mit.edu	37	chr4	169611766	169611766	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatttcaggaactgcaaaacAcagccgtggcggaaggccag	14	5	12	10	2	1	0	1	0	0	0	1	2	1	2	2	4	4	1	2	4	5	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:169611766A>G	ENST00000505667.1	+	7	1521	c.1348A>G	c.(1348-1350)Aca>Gca	p.T450A	PALLD_ENST00000333488.4_Missense_Mutation_p.T327A|PALLD_ENST00000335742.7_Missense_Mutation_p.T68A|PALLD_ENST00000512127.1_Missense_Mutation_p.T68A|PALLD_ENST00000261509.6_Missense_Mutation_p.T450A			Q8WX93	PALLD_HUMAN	palladin, cytoskeletal associated protein	450	Ig-like C2-type 2.				cytoskeleton organization (GO:0007010)	actin filament (GO:0005884)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	muscle alpha-actinin binding (GO:0051371)			breast(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(18)|ovary(3)|prostate(3)|skin(4)	48		Prostate(90;0.00996)|Renal(120;0.0203)|Melanoma(52;0.144)		GBM - Glioblastoma multiforme(119;0.204)		ACTGCAAAACACAGCCGTGGC	0.498									Pancreatic Cancer, Familial Clustering of																												Esophageal Squamous(109;1482 1532 18347 40239 51172)	ENST00000335742.7																			0				breast(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(18)|ovary(3)|prostate(3)|skin(4)	48						c.(202-204)Aca>Gca		palladin, cytoskeletal associated protein							81	95	90					4																	169611766		2203	4300	6503	SO:0001583	missense	23022	Pancreatic Cancer, Familial Clustering of	Familial Cancer Database	incl.: Hereditary Pancreatic Adenocarcinoma, Insulin-Dependent Diabetes Mellitus - Exocrine Insufficiency - Familial Pancreatic Cancer, PNCA1	cytoskeleton organization	actin filament|focal adhesion|lamellipodium|nucleus|ruffle|sarcomere	actin binding|muscle alpha-actinin binding	g.chr4:169611766A>G	AB023209	CCDS34098.1, CCDS54818.1, CCDS54819.1, CCDS54820.1	4q32.3	2013-01-11			ENSG00000129116	ENSG00000129116		"Immunoglobulin superfamily / I-set domain containing"	17068	protein-coding gene	gene with protein product		608092				10231032, 10931874	Standard	NM_001166108		Approved	KIAA0992, SIH002, CGI-151	uc011cjx.2	Q8WX93	OTTHUMG00000161097	ENST00000505667.1:c.1348A>G	4.37:g.169611766A>G	ENSP00000425556:p.Thr450Ala					PALLD_ENST00000261509.6_Missense_Mutation_p.T450A|PALLD_ENST00000512127.1_Missense_Mutation_p.T68A|PALLD_ENST00000505667.1_Missense_Mutation_p.T450A|PALLD_ENST00000333488.4_Missense_Mutation_p.T327A	p.T68A			Q8WX93	PALLD_HUMAN		GBM - Glioblastoma multiforme(119;0.204)	7	1559	+		Prostate(90;0.00996)|Renal(120;0.0203)|Melanoma(52;0.144)	450					B3KTG2|B5MD56|B7ZMM5|Q7L3E0|Q7Z3W0|Q86WE8|Q8N1M2|Q9UGA0|Q9UQF5|Q9Y2J6|Q9Y3E9	Missense_Mutation	SNP	ENST00000505667.1	37	c.202A>G	CCDS54818.1	.	.	.	.	.	.	.	.	.	.	A	3.908	-0.020575	0.07634	.	.	ENSG00000129116	ENST00000261509;ENST00000335742;ENST00000505667;ENST00000508898;ENST00000333488;ENST00000504519;ENST00000512127;ENST00000513245;ENST00000503457	T;T;T;T;T;T;T;T	0.69806	-0.18;-0.18;-0.18;-0.18;-0.18;-0.43;-0.18;-0.18	5.87	5.87	0.94306	.	0.237968	0.20119	U	0.098851	T	0.48447	0.1500	L	0.28608	0.87	0.09310	N	1	B;B;B	0.20887	0.049;0.0;0.006	B;B;B	0.24394	0.053;0.0;0.012	T	0.29181	-1.0020	10	0.22706	T	0.39	.	2.6775	0.05084	0.6023:0.1292:0.074:0.1945	.	450;68;450	B7ZMM5;B3KTG2;B2RTX2	.;.;.	A	450;68;450;429;327;68;68;68;68	ENSP00000261509:T450A;ENSP00000336735:T68A;ENSP00000425556:T450A;ENSP00000423063:T429A;ENSP00000328945:T327A;ENSP00000424121:T68A;ENSP00000426947:T68A;ENSP00000424288:T68A	ENSP00000261509:T450A	T	+	1	0	PALLD	169848341	0.640000	0.27243	0.814000	0.32528	0.001000	0.01503	2.463000	0.45058	2.242000	0.73789	0.528000	0.53228	ACA		0.498	PALLD-002	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000363762.1	NM_016081		44	67	0	0	0	1	0	44	67					G	169611766	A	G	169611766	3	3	435	1	0	0	0	0	1	0	0	0	11407	159	6	4	1370	4	PALLD	4	169611766	Missense_Mutation	SNP	A	TCGA-XK-AAIW-01A-11D-A41K-08	178395	169611766	21542510	2524	23449											
NEK1	4750	broad.mit.edu	37	chr4	170321765	170321765	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaatggttaaagacactatcGcattcacattcactagcaat	16	11	5	9	1	2	1	2	0	0	1	3	1	2	1	0	1	1	3	0	1	6	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:170321765G>A	ENST00000439128.2	-	32	4177	c.3537C>T	c.(3535-3537)tgC>tgT	p.C1179C	NEK1_ENST00000510533.1_Silent_p.C1135C|NEK1_ENST00000512193.1_Silent_p.C1110C|NEK1_ENST00000507142.1_Silent_p.C1207C|NEK1_ENST00000511633.1_Silent_p.C1163C	NM_012224.2	NP_036356.1	Q96PY6	NEK1_HUMAN	NIMA-related kinase 1	1179					cellular response to DNA damage stimulus (GO:0006974)|cilium assembly (GO:0042384)|mitotic nuclear division (GO:0007067)|response to ionizing radiation (GO:0010212)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|pericentriolar material (GO:0000242)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)	p.C1207C(4)		NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|stomach(1)	45		Prostate(90;0.00601)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0287)|KIRC - Kidney renal clear cell carcinoma(143;0.0325)|Kidney(143;0.0385)|LUSC - Lung squamous cell carcinoma(193;0.14)		AGACACTATCGCATTCACATT	0.318																																						ENST00000439128.2																			4	Substitution - coding silent(4)	p.C1207C(4)	lung(2)|breast(2)	NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|stomach(1)	45						c.(3535-3537)tgC>tgT		NIMA-related kinase 1							54	48	50					4																	170321765		1823	4084	5907	SO:0001819	synonymous_variant	4750				cell division|cilium assembly|mitosis	nucleus|pericentriolar material	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr4:170321765G>A	AB067488	CCDS47162.1, CCDS56348.1, CCDS56349.1, CCDS56350.1, CCDS56351.1	4q32.3	2012-11-15	2012-11-15		ENSG00000137601	ENSG00000137601			7744	protein-coding gene	gene with protein product		604588	"NIMA (never in mitosis gene a)-related kinase 1"			1382974, 8274451	Standard	NM_012224		Approved	NY-REN-55, KIAA1901	uc003isd.2	Q96PY6	OTTHUMG00000160963	ENST00000439128.2:c.3537C>T	4.37:g.170321765G>A						NEK1_ENST00000511633.1_Silent_p.C1163C|NEK1_ENST00000512193.1_Silent_p.C1110C|NEK1_ENST00000510533.1_Silent_p.C1135C|NEK1_ENST00000507142.1_Silent_p.C1207C	p.C1179C	NM_012224.2	NP_036356.1	Q96PY6	NEK1_HUMAN		GBM - Glioblastoma multiforme(119;0.0287)|KIRC - Kidney renal clear cell carcinoma(143;0.0325)|Kidney(143;0.0385)|LUSC - Lung squamous cell carcinoma(193;0.14)	32	4177	-		Prostate(90;0.00601)|Renal(120;0.0183)	1179					G5E9Z3|Q05DG5|Q14CB7|Q5H9T1|Q6PIB8|Q96SS2|Q9H6P7|Q9Y594	Silent	SNP	ENST00000439128.2	37	c.3537C>T	CCDS47162.1																																																																																				0.318	NEK1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000363157.3			7	10	0	0	0	1	0	7	10					A	170321765	G	A	170321765	2	1	435	1	0	0	0	0	0	0	0	1	10321	1079	38	1		1	NEK1	4	170321765	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	709999	170321765	20832511	2525	23450											
NEK1	4750	broad.mit.edu	37	chr4	170459007	170459007	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgcatagcttcccgttttcGctgcaggaactcttctactt	6	15	7	13	2	2	0	0	0	2	0	4	1	3	1	1	1	5	5	1	1	3	7			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:170459007G>A	ENST00000439128.2	-	18	2258	c.1618C>T	c.(1618-1620)Cga>Tga	p.R540*	NEK1_ENST00000510533.1_Nonsense_Mutation_p.R496*|NEK1_ENST00000512193.1_Nonsense_Mutation_p.R471*|NEK1_ENST00000507142.1_Nonsense_Mutation_p.R540*|NEK1_ENST00000511633.1_Nonsense_Mutation_p.R496*	NM_012224.2	NP_036356.1	Q96PY6	NEK1_HUMAN	NIMA-related kinase 1	540					cellular response to DNA damage stimulus (GO:0006974)|cilium assembly (GO:0042384)|mitotic nuclear division (GO:0007067)|response to ionizing radiation (GO:0010212)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|pericentriolar material (GO:0000242)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)			NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|stomach(1)	45		Prostate(90;0.00601)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0287)|KIRC - Kidney renal clear cell carcinoma(143;0.0325)|Kidney(143;0.0385)|LUSC - Lung squamous cell carcinoma(193;0.14)		TCCCGTTTTCGCTGCAGGAAC	0.388																																						ENST00000439128.2																			0				NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|stomach(1)	45						c.(1618-1620)Cga>Tga		NIMA-related kinase 1							292	280	284					4																	170459007		1863	4098	5961	SO:0001587	stop_gained	4750				cell division|cilium assembly|mitosis	nucleus|pericentriolar material	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr4:170459007G>A	AB067488	CCDS47162.1, CCDS56348.1, CCDS56349.1, CCDS56350.1, CCDS56351.1	4q32.3	2012-11-15	2012-11-15		ENSG00000137601	ENSG00000137601			7744	protein-coding gene	gene with protein product		604588	"NIMA (never in mitosis gene a)-related kinase 1"			1382974, 8274451	Standard	NM_012224		Approved	NY-REN-55, KIAA1901	uc003isd.2	Q96PY6	OTTHUMG00000160963	ENST00000439128.2:c.1618C>T	4.37:g.170459007G>A	ENSP00000408020:p.Arg540*					NEK1_ENST00000511633.1_Nonsense_Mutation_p.R496*|NEK1_ENST00000512193.1_Nonsense_Mutation_p.R471*|NEK1_ENST00000510533.1_Nonsense_Mutation_p.R496*|NEK1_ENST00000507142.1_Nonsense_Mutation_p.R540*	p.R540*	NM_012224.2	NP_036356.1	Q96PY6	NEK1_HUMAN		GBM - Glioblastoma multiforme(119;0.0287)|KIRC - Kidney renal clear cell carcinoma(143;0.0325)|Kidney(143;0.0385)|LUSC - Lung squamous cell carcinoma(193;0.14)	18	2258	-		Prostate(90;0.00601)|Renal(120;0.0183)	540					G5E9Z3|Q05DG5|Q14CB7|Q5H9T1|Q6PIB8|Q96SS2|Q9H6P7|Q9Y594	Nonsense_Mutation	SNP	ENST00000439128.2	37	c.1618C>T	CCDS47162.1	.	.	.	.	.	.	.	.	.	.	G	45	11.428968	0.99560	.	.	ENSG00000137601	ENST00000439128;ENST00000511633;ENST00000510533;ENST00000507142;ENST00000512193	.	.	.	5.91	5.05	0.67936	.	0.000000	0.53938	D	0.000043	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.9667	0.79979	0.0:0.0:0.864:0.1359	.	.	.	.	X	540;496;496;540;471	.	ENSP00000408020:R540X	R	-	1	2	NEK1	170695582	1.000000	0.71417	1.000000	0.80357	0.934000	0.57294	3.643000	0.54374	1.453000	0.47775	0.650000	0.86243	CGA		0.388	NEK1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000363157.3			85	124	0	0	0	1	0	85	124					A	170459007	G	A	170459007	4	1	435	1	0	0	0	0	0	1	0	0	10321	1095	38	1	2226	1	NEK1	4	170459007	Nonsense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	137242	170459007	20695269	2526	23451											
GALNTL6	442117	broad.mit.edu	37	chr4	173873302	173873302	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tctctgcccagaaggagctgCgcaagcagctcaagtgcaag	11	6	12	12	1	2	1	1	0	1	1	3	2	2	2	1	1	6	5	1	1	4	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:173873302C>T	ENST00000506823.1	+	10	1921	c.1264C>T	c.(1264-1266)Cgc>Tgc	p.R422C	GALNTL6_ENST00000508122.1_Missense_Mutation_p.R405C	NM_001034845.2	NP_001030017.2	Q49A17	GLTL6_HUMAN	polypeptide N-acetylgalactosaminyltransferase-like 6	422					protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(2)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	45						GAAGGAGCTGCGCAAGCAGCT	0.587																																						ENST00000506823.1																			0				breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(2)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	45						c.(1264-1266)Cgc>Tgc		UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 6							60	61	60					4																	173873302		2203	4300	6503	SO:0001583	missense	442117					Golgi membrane|integral to membrane	metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr4:173873302C>T		CCDS34104.1	4q34.1	2014-03-13	2014-03-13		ENSG00000174473	ENSG00000174473		"Glycosyltransferase family 2 domain containing"	33844	protein-coding gene	gene with protein product	"polypeptide GalNAc transferase-like 6"	615138	"UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 6"				Standard	NM_001034845		Approved	GALNT17, GalNAc-T6L	uc003isv.3	Q49A17	OTTHUMG00000160807	ENST00000506823.1:c.1264C>T	4.37:g.173873302C>T	ENSP00000423313:p.Arg422Cys					GALNTL6_ENST00000508122.1_Missense_Mutation_p.R405C	p.R422C	NM_001034845.2	NP_001030017.2	Q49A17	GLTL6_HUMAN			10	1921	+			422					Q2L4S6	Missense_Mutation	SNP	ENST00000506823.1	37	c.1264C>T	CCDS34104.1	.	.	.	.	.	.	.	.	.	.	c	16.42	3.118153	0.56505	.	.	ENSG00000174473	ENST00000506823;ENST00000508122	T;T	0.75367	-0.93;-0.93	5.36	5.36	0.76844	.	0.073163	0.64402	D	0.000020	D	0.91358	0.7274	H	0.97023	3.925	0.80722	D	1	D	0.89917	1.0	D	0.76575	0.988	D	0.93882	0.7172	10	0.87932	D	0	.	19.4536	0.94878	0.0:1.0:0.0:0.0	.	422	Q49A17	GLTL6_HUMAN	C	422;405	ENSP00000423313:R422C;ENSP00000423827:R405C	ENSP00000423313:R422C	R	+	1	0	GALNTL6	174109877	1.000000	0.71417	0.909000	0.35828	0.346000	0.29079	4.664000	0.61540	2.668000	0.90789	0.478000	0.44815	CGC		0.587	GALNTL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362395.1	NM_001034845		16	23	0	0	0	1	0	16	23					T	173873302	C	T	173873302	3	4	435	1	0	0	0	0	1	0	0	0	6225	768	27	1	1298	1	GALNTL6	4	173873302	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	3414295	173873302	17280974	2527	23452											
ADAM29	11086	broad.mit.edu	37	chr4	175896956	175896956	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gtgctatccttgaggaccagCcatttgtccagaataactgc	10	11	9	11	0	0	2	0	1	0	1	2	3	2	3	4	1	4	1	4	1	3	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:175896956C>T	ENST00000359240.3	+	5	950	c.280C>T	c.(280-282)Cca>Tca	p.P94S	ADAM29_ENST00000514159.1_Missense_Mutation_p.P94S|ADAM29_ENST00000445694.1_Missense_Mutation_p.P94S|RP13-577H12.2_ENST00000507525.1_RNA|ADAM29_ENST00000404450.4_Missense_Mutation_p.P94S	NM_001278125.1|NM_014269.4	NP_001265054.1|NP_055084.3	Q9UKF5	ADA29_HUMAN	ADAM metallopeptidase domain 29	94					spermatogenesis (GO:0007283)	integral component of plasma membrane (GO:0005887)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)		TGAGGACCAGCCATTTGTCCA	0.453																																					Ovarian(140;1727 1835 21805 25838 41440)	ENST00000359240.3																			0				NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93						c.(280-282)Cca>Tca		ADAM metallopeptidase domain 29							52	53	53					4																	175896956		2203	4300	6503	SO:0001583	missense	11086				proteolysis|spermatogenesis	integral to plasma membrane	metalloendopeptidase activity|zinc ion binding	g.chr4:175896956C>T	AF171929	CCDS3823.1	4q34.1	2012-05-16	2005-08-18		ENSG00000168594	ENSG00000168594		"ADAM metallopeptidase domain containing"	207	protein-coding gene	gene with protein product	"cancer/testis antigen 73"	604778	"a disintegrin and metalloproteinase domain 29"			10644455	Standard	NM_014269		Approved	svph1, CT73	uc031shw.1	Q9UKF5	OTTHUMG00000160764	ENST00000359240.3:c.280C>T	4.37:g.175896956C>T	ENSP00000352177:p.Pro94Ser					ADAM29_ENST00000404450.4_Missense_Mutation_p.P94S|ADAM29_ENST00000514159.1_Missense_Mutation_p.P94S|ADAM29_ENST00000445694.1_Missense_Mutation_p.P94S	p.P94S	NM_001278125.1|NM_014269.4	NP_001265054.1|NP_055084.3	Q9UKF5	ADA29_HUMAN		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)	5	950	+		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)	94					Q4W5F3|Q9UHP1|Q9UKF3|Q9UKF4	Missense_Mutation	SNP	ENST00000359240.3	37	c.280C>T	CCDS3823.1	.	.	.	.	.	.	.	.	.	.	C	12.24	1.877339	0.33162	.	.	ENSG00000168594	ENST00000359240;ENST00000445694;ENST00000404450;ENST00000514159	T;T;T;T	0.07688	3.17;3.17;3.17;3.17	3.77	2.02	0.26589	Peptidase M12B, propeptide (1);	0.000000	0.36002	U	0.002841	T	0.21921	0.0528	M	0.76727	2.345	0.09310	N	1	D	0.89917	1.0	D	0.97110	1.0	T	0.02588	-1.1137	9	.	.	.	.	5.1273	0.14892	0.0:0.6696:0.2139:0.1165	.	94	Q9UKF5	ADA29_HUMAN	S	94	ENSP00000352177:P94S;ENSP00000414544:P94S;ENSP00000384229:P94S;ENSP00000423517:P94S	.	P	+	1	0	ADAM29	176133531	0.780000	0.28664	0.034000	0.17996	0.448000	0.32197	2.711000	0.47177	0.562000	0.29204	-0.169000	0.13324	CCA		0.453	ADAM29-201	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding				24	30	0	0	0	1	0	24	30					T	175896956	C	T	175896956	3	4	435	1	0	0	0	0	1	0	0	0	247	739	26	3	282	3	ADAM29	4	175896956	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	2023654	175896956	15257320	2528	23453											
ADAM29	11086	broad.mit.edu	37	chr4	175897510	175897510	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggaagtcggagaacattacGccccggatgcaacatgacac	13	6	11	11	3	0	2	0	1	0	1	1	5	0	4	2	3	4	1	2	3	4	1	rs531043841		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:175897510G>A	ENST00000359240.3	+	5	1504	c.834G>A	c.(832-834)acG>acA	p.T278T	ADAM29_ENST00000514159.1_Silent_p.T278T|ADAM29_ENST00000445694.1_Silent_p.T278T|RP13-577H12.2_ENST00000507525.1_RNA|ADAM29_ENST00000404450.4_Silent_p.T278T	NM_001278125.1|NM_014269.4	NP_001265054.1|NP_055084.3	Q9UKF5	ADA29_HUMAN	ADAM metallopeptidase domain 29	278	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				spermatogenesis (GO:0007283)	integral component of plasma membrane (GO:0005887)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)		AGAACATTACGCCCCGGATGC	0.428													T|||	1	0.000199681	8e-04	0	5008	,	,		20652	0		0	False		,,,				2504	0				Ovarian(140;1727 1835 21805 25838 41440)	ENST00000359240.3																			0				NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93						c.(832-834)acG>acA		ADAM metallopeptidase domain 29							143	137	139					4																	175897510		2203	4300	6503	SO:0001819	synonymous_variant	11086				proteolysis|spermatogenesis	integral to plasma membrane	metalloendopeptidase activity|zinc ion binding	g.chr4:175897510G>A	AF171929	CCDS3823.1	4q34.1	2012-05-16	2005-08-18		ENSG00000168594	ENSG00000168594		"ADAM metallopeptidase domain containing"	207	protein-coding gene	gene with protein product	"cancer/testis antigen 73"	604778	"a disintegrin and metalloproteinase domain 29"			10644455	Standard	NM_014269		Approved	svph1, CT73	uc031shw.1	Q9UKF5	OTTHUMG00000160764	ENST00000359240.3:c.834G>A	4.37:g.175897510G>A						ADAM29_ENST00000404450.4_Silent_p.T278T|ADAM29_ENST00000514159.1_Silent_p.T278T|ADAM29_ENST00000445694.1_Silent_p.T278T	p.T278T	NM_001278125.1|NM_014269.4	NP_001265054.1|NP_055084.3	Q9UKF5	ADA29_HUMAN		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)	5	1504	+		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)	278			Peptidase M12B.		Q4W5F3|Q9UHP1|Q9UKF3|Q9UKF4	Silent	SNP	ENST00000359240.3	37	c.834G>A	CCDS3823.1																																																																																				0.428	ADAM29-201	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding				16	94	0	0	0	1	0	16	94					A	175897510	G	A	175897510	2	1	435	1	0	0	0	0	0	0	0	1	247	1074	38	1		1	ADAM29	4	175897510	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	554	175897510	15256766	2529	23454											
WDR17	116966	broad.mit.edu	37	chr4	177069450	177069450	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acactcgagaaggaacttgtGtggatactgtgtatgatcac	12	11	11	7	1	1	2	1	1	0	1	2	5	1	4	0	2	2	1	0	2	4	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:177069450G>A	ENST00000280190.4	+	14	2089	c.1933G>A	c.(1933-1935)Gtg>Atg	p.V645M	WDR17_ENST00000507824.2_Missense_Mutation_p.V628M|WDR17_ENST00000393643.2_Missense_Mutation_p.V621M|WDR17_ENST00000508596.1_Missense_Mutation_p.V621M			Q8IZU2	WDR17_HUMAN	WD repeat domain 17	645										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(18)|lung(46)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	92		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)		AGGAACTTGTGTGGATACTGT	0.373																																						ENST00000393643.2																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(18)|lung(46)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	92						c.(1861-1863)Gtg>Atg		WD repeat domain 17							114	110	111					4																	177069450		2203	4300	6503	SO:0001583	missense	116966							g.chr4:177069450G>A	AF492460	CCDS3825.1, CCDS43284.1, CCDS43284.2	4q34	2013-01-09			ENSG00000150627	ENSG00000150627		"WD repeat domain containing"	16661	protein-coding gene	gene with protein product		609005				12401215	Standard	NM_170710		Approved		uc003iuj.3	Q8IZU2	OTTHUMG00000160791	ENST00000280190.4:c.1933G>A	4.37:g.177069450G>A	ENSP00000280190:p.Val645Met					WDR17_ENST00000280190.4_Missense_Mutation_p.V645M|WDR17_ENST00000507824.2_Missense_Mutation_p.V628M|WDR17_ENST00000508596.1_Missense_Mutation_p.V621M	p.V621M	NM_170710.4	NP_733828.2	Q8IZU2	WDR17_HUMAN		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)	13	2113	+		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)	645					E7EQX0|Q0QD35	Missense_Mutation	SNP	ENST00000280190.4	37	c.1861G>A	CCDS3825.1	.	.	.	.	.	.	.	.	.	.	G	14.64	2.595374	0.46318	.	.	ENSG00000150627	ENST00000508596;ENST00000393643;ENST00000280190;ENST00000507824	T;T;T	0.06294	3.52;3.32;3.52	5.77	-6.85	0.01681	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.084031	0.48767	D	0.000178	T	0.05960	0.0155	L	0.42008	1.315	0.21445	N	0.999684	B;B	0.28971	0.076;0.229	B;B	0.35813	0.211;0.211	T	0.20840	-1.0263	10	0.62326	D	0.03	-2.8346	10.9169	0.47142	0.0:0.5026:0.1955:0.3019	.	621;645	E7EQX0;Q8IZU2	.;WDR17_HUMAN	M	621;621;645;628	ENSP00000422763:V621M;ENSP00000377258:V621M;ENSP00000280190:V645M	ENSP00000280190:V645M	V	+	1	0	WDR17	177306444	0.027000	0.19231	0.649000	0.29536	0.873000	0.50193	-0.424000	0.07025	-1.053000	0.03218	-1.059000	0.02297	GTG		0.373	WDR17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362334.2			29	51	0	0	0	1	0	29	51					A	177069450	G	A	177069450	3	1	435	1	0	0	0	0	1	0	0	0	17274	1377	48	3	1983	3	WDR17	4	177069450	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	1171940	177069450	14084826	2530	23455											
ASB5	140458	broad.mit.edu	37	chr4	177136781	177136781	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgtaagaaattcttcagtaaCgttggcagctggagttgtgg	10	13	13	5	1	2	1	1	0	1	1	2	2	2	2	0	3	2	6	0	3	3	6	rs202102103		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:177136781C>T	ENST00000296525.3	-	7	1073	c.960G>A	c.(958-960)acG>acA	p.T320T	ASB5_ENST00000512254.1_Silent_p.T267T	NM_080874.3	NP_543150.1	Q8WWX0	ASB5_HUMAN	ankyrin repeat and SOCS box containing 5	320	SOCS box. {ECO:0000255|PROSITE- ProRule:PRU00194}.				intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)					endometrium(2)|kidney(1)|large_intestine(9)|lung(18)|prostate(2)|skin(2)	34		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.13e-20)|Epithelial(43;9.94e-18)|OV - Ovarian serous cystadenocarcinoma(60;2e-09)|GBM - Glioblastoma multiforme(59;0.000254)|STAD - Stomach adenocarcinoma(60;0.000653)|LUSC - Lung squamous cell carcinoma(193;0.0393)		TCTTCAGTAACGTTGGCAGCT	0.363													C|||	1	0.000199681	0	0	5008	,	,		15180	0		0.001	False		,,,				2504	0					ENST00000296525.3																			0				endometrium(2)|kidney(1)|large_intestine(9)|lung(18)|prostate(2)|skin(2)	34						c.(958-960)acG>acA		ankyrin repeat and SOCS box containing 5		C		0,4406		0,0,2203	110	101	104		960	-10.5	0.1	4		104	3,8597	3.0+/-9.4	0,3,4297	no	coding-synonymous	ASB5	NM_080874.3		0,3,6500	TT,TC,CC		0.0349,0.0,0.0231		320/330	177136781	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	140458				intracellular signal transduction			g.chr4:177136781C>T	AY057053	CCDS3827.1	4q34.1	2013-01-10	2011-01-25		ENSG00000164122	ENSG00000164122		"Ankyrin repeat domain containing"	17180	protein-coding gene	gene with protein product		615050	"ankyrin repeat and SOCS box-containing 5"				Standard	NM_080874		Approved		uc003iuq.2	Q8WWX0	OTTHUMG00000160793	ENST00000296525.3:c.960G>A	4.37:g.177136781C>T						ASB5_ENST00000512254.1_Silent_p.T267T	p.T320T	NM_080874.3	NP_543150.1	Q8WWX0	ASB5_HUMAN		all cancers(43;2.13e-20)|Epithelial(43;9.94e-18)|OV - Ovarian serous cystadenocarcinoma(60;2e-09)|GBM - Glioblastoma multiforme(59;0.000254)|STAD - Stomach adenocarcinoma(60;0.000653)|LUSC - Lung squamous cell carcinoma(193;0.0393)	7	1073	-		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)	320			SOCS box.		Q8N7B5	Silent	SNP	ENST00000296525.3	37	c.960G>A	CCDS3827.1																																																																																				0.363	ASB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362344.1			16	35	0	0	0	1	0	16	35					T	177136781	C	T	177136781	2	4	435	1	0	0	0	0	0	0	0	1	1026	523	19	1		1	ASB5	4	177136781	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	67331	177136781	14017495	2531	23456											
ODZ3	55714	broad.mit.edu	37	chr4	183676028	183676028	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctgtgtcaaagaataagcCtttacttaactctatgaact	13	13	7	8	0	2	2	1	1	1	1	2	2	2	2	1	1	4	1	1	1	7	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:183676028C>A	ENST00000511685.1	+	22	4631	c.4508C>A	c.(4507-4509)cCt>cAt	p.P1503H	TENM3_ENST00000502950.1_3'UTR|TENM3_ENST00000406950.2_Missense_Mutation_p.P1503H			Q9P273	TEN3_HUMAN	teneurin transmembrane protein 3	1503					camera-type eye morphogenesis (GO:0048593)|homophilic cell adhesion (GO:0007156)|positive regulation of neuron projection development (GO:0010976)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cell projection (GO:0042995)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)										AAGAATAAGCCTTTACTTAAC	0.423																																						ENST00000511685.1																			0											c.(4507-4509)cCt>cAt		teneurin transmembrane protein 3							87	86	86					4																	183676028		1908	4110	6018	SO:0001583	missense	55714							g.chr4:183676028C>A	AF195420	CCDS47165.1	4q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000218336	ENSG00000218336			29944	protein-coding gene	gene with protein product		610083	"odz, odd Oz/ten-m homolog 3 (Drosophila)"	ODZ3		10331952, 10625539	Standard	NM_001080477		Approved	Ten-M3, KIAA1455	uc003ivd.1	Q9P273	OTTHUMG00000160682	ENST00000511685.1:c.4508C>A	4.37:g.183676028C>A	ENSP00000424226:p.Pro1503His					TENM3_ENST00000502950.1_3'UTR|TENM3_ENST00000406950.2_Missense_Mutation_p.P1503H	p.P1503H							22	4631	+								Q5XUL9|Q96SY2|Q9NV77|Q9NVW1|Q9NZJ2	Missense_Mutation	SNP	ENST00000511685.1	37	c.4508C>A	CCDS47165.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.223251	0.79464	.	.	ENSG00000218336	ENST00000511685;ENST00000406950	T;T	0.16324	2.35;2.35	5.25	5.25	0.73442	.	.	.	.	.	T	0.47266	0.1436	M	0.81802	2.56	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.49322	-0.8952	9	0.87932	D	0	.	19.0324	0.92963	0.0:1.0:0.0:0.0	.	1503	Q9P273	TEN3_HUMAN	H	1503	ENSP00000424226:P1503H;ENSP00000385276:P1503H	ENSP00000385276:P1503H	P	+	2	0	ODZ3	183913022	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.651000	0.83577	2.737000	0.93849	0.563000	0.77884	CCT		0.423	TENM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361734.1			31	32	1	0	1.99505e-19	1	2.20731e-19	31	32					A	183676028	C	A	183676028	3	1	435	1	0	0	0	0	1	0	0	0	10836	681	24	5	4590	5	ODZ3	4	183676028	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	6539247	183676028	7478248	2532	23457											
ODZ3	55714	broad.mit.edu	37	chr4	183714557	183714557	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agcaaaaccagtctaggacaGcacctgcagtttttttatgc	12	11	8	10	0	1	0	0	0	1	0	1	1	1	1	2	1	5	4	2	1	4	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:183714557G>A	ENST00000511685.1	+	26	6855	c.6732G>A	c.(6730-6732)caG>caA	p.Q2244Q	TENM3_ENST00000406950.2_Silent_p.Q2244Q			Q9P273	TEN3_HUMAN	teneurin transmembrane protein 3	2244					camera-type eye morphogenesis (GO:0048593)|homophilic cell adhesion (GO:0007156)|positive regulation of neuron projection development (GO:0010976)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cell projection (GO:0042995)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)										GTCTAGGACAGCACCTGCAGT	0.448																																						ENST00000511685.1																			0											c.(6730-6732)caG>caA		teneurin transmembrane protein 3							67	68	68					4																	183714557		1895	4116	6011	SO:0001819	synonymous_variant	55714							g.chr4:183714557G>A	AF195420	CCDS47165.1	4q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000218336	ENSG00000218336			29944	protein-coding gene	gene with protein product		610083	"odz, odd Oz/ten-m homolog 3 (Drosophila)"	ODZ3		10331952, 10625539	Standard	NM_001080477		Approved	Ten-M3, KIAA1455	uc003ivd.1	Q9P273	OTTHUMG00000160682	ENST00000511685.1:c.6732G>A	4.37:g.183714557G>A						TENM3_ENST00000406950.2_Silent_p.Q2244Q	p.Q2244Q							26	6855	+								Q5XUL9|Q96SY2|Q9NV77|Q9NVW1|Q9NZJ2	Silent	SNP	ENST00000511685.1	37	c.6732G>A	CCDS47165.1																																																																																				0.448	TENM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361734.1			12	15	0	0	0	1	0	12	15					A	183714557	G	A	183714557	2	1	435	1	0	0	0	0	0	0	0	1	10836	962	34	3		3	ODZ3	4	183714557	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	38529	183714557	7439719	2533	23458											
STOX2	56977	broad.mit.edu	37	chr4	184931470	184931470	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gccaaggagagatccaggtcGatggataactccaaaggccc	13	5	12	11	1	0	1	0	0	0	1	3	5	2	3	4	4	1	0	4	4	3	1	rs372739830		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:184931470G>A	ENST00000308497.4	+	3	2914	c.1479G>A	c.(1477-1479)tcG>tcA	p.S493S	STOX2_ENST00000438269.1_Silent_p.S493S	NM_020225.1	NP_064610.1	Q9P2F5	STOX2_HUMAN	storkhead box 2	493					embryo development (GO:0009790)|maternal placenta development (GO:0001893)					breast(1)|endometrium(7)|lung(6)	14		all_lung(41;1.89e-12)|Lung NSC(41;3.48e-12)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|all_hematologic(60;0.027)|Prostate(90;0.0283)		all cancers(43;2.85e-26)|Epithelial(43;2.27e-22)|OV - Ovarian serous cystadenocarcinoma(60;3.4e-10)|Colorectal(24;8.23e-06)|GBM - Glioblastoma multiforme(59;1.64e-05)|STAD - Stomach adenocarcinoma(60;3.6e-05)|COAD - Colon adenocarcinoma(29;4.37e-05)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.227)		GATCCAGGTCGATGGATAACT	0.572																																						ENST00000308497.4																			0				breast(1)|endometrium(7)|lung(6)	14						c.(1477-1479)tcG>tcA		storkhead box 2		G		0,3856		0,0,1928	37	44	42		1479	-11.3	0	4		42	1,8299		0,1,4149	no	coding-synonymous	STOX2	NM_020225.1		0,1,6077	AA,AG,GG		0.012,0.0,0.0082		493/927	184931470	1,12155	1928	4150	6078	SO:0001819	synonymous_variant	56977				embryo development|maternal placenta development			g.chr4:184931470G>A	AB037813	CCDS47167.1	4q35.1	2014-09-11			ENSG00000173320	ENSG00000173320			25450	protein-coding gene	gene with protein product							Standard	XM_005263142		Approved	DKFZp762K222	uc003ivz.1	Q9P2F5	OTTHUMG00000160618	ENST00000308497.4:c.1479G>A	4.37:g.184931470G>A						STOX2_ENST00000438269.1_Silent_p.S493S	p.S493S	NM_020225.1	NP_064610.1	Q9P2F5	STOX2_HUMAN		all cancers(43;2.85e-26)|Epithelial(43;2.27e-22)|OV - Ovarian serous cystadenocarcinoma(60;3.4e-10)|Colorectal(24;8.23e-06)|GBM - Glioblastoma multiforme(59;1.64e-05)|STAD - Stomach adenocarcinoma(60;3.6e-05)|COAD - Colon adenocarcinoma(29;4.37e-05)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.227)	3	2914	+		all_lung(41;1.89e-12)|Lung NSC(41;3.48e-12)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|all_hematologic(60;0.027)|Prostate(90;0.0283)	493					A6H8U4|Q9NPS8	Silent	SNP	ENST00000308497.4	37	c.1479G>A	CCDS47167.1																																																																																				0.572	STOX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361433.3	NM_020225		7	2	0	0	0	1	0	7	2					A	184931470	G	A	184931470	2	1	435	1	0	0	0	0	0	0	0	1	15319	1045	37	2		2	STOX2	4	184931470	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	1216913	184931470	6222806	2534	23459											
ACSL1	2180	broad.mit.edu	37	chr4	185684393	185684393	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tttatcaaattgcacggcatCggggccccaacatggcctgt	9	10	10	12	2	1	0	1	0	0	0	2	0	1	0	3	4	2	2	3	4	3	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:185684393C>T	ENST00000515030.1	-	16	1774	c.1449G>A	c.(1447-1449)ccG>ccA	p.P483P	ACSL1_ENST00000513317.1_Silent_p.P483P|ACSL1_ENST00000507295.1_Silent_p.P449P|ACSL1_ENST00000504342.1_Silent_p.P483P|ACSL1_ENST00000454703.2_Silent_p.P312P|ACSL1_ENST00000437665.3_Silent_p.P312P|ACSL1_ENST00000281455.2_Silent_p.P483P			P33121	ACSL1_HUMAN	acyl-CoA synthetase long-chain family member 1	483					adiponectin-activated signaling pathway (GO:0033211)|alpha-linolenic acid metabolic process (GO:0036109)|cellular lipid metabolic process (GO:0044255)|linoleic acid metabolic process (GO:0043651)|lipid biosynthetic process (GO:0008610)|long-chain fatty acid import (GO:0044539)|long-chain fatty acid metabolic process (GO:0001676)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|response to drug (GO:0042493)|response to nutrient (GO:0007584)|response to oleic acid (GO:0034201)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|unsaturated fatty acid metabolic process (GO:0033559)|xenobiotic catabolic process (GO:0042178)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|peroxisomal membrane (GO:0005778)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|long-chain fatty acid-CoA ligase activity (GO:0004467)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|liver(1)|lung(17)|ovary(2)|prostate(1)|skin(2)	38		all_lung(41;7.57e-14)|Lung NSC(41;1.81e-13)|Colorectal(36;0.00172)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0315)|all_neural(102;0.107)|Medulloblastoma(177;0.146)		all cancers(43;1.33e-28)|Epithelial(43;5.3e-25)|OV - Ovarian serous cystadenocarcinoma(60;4.88e-11)|Colorectal(24;3.59e-06)|STAD - Stomach adenocarcinoma(60;2.72e-05)|GBM - Glioblastoma multiforme(59;2.83e-05)|BRCA - Breast invasive adenocarcinoma(30;7.66e-05)|COAD - Colon adenocarcinoma(29;0.000538)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.0419)	Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	TGCACGGCATCGGGGCCCCAA	0.438																																						ENST00000515030.1																			0				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|liver(1)|lung(17)|ovary(2)|prostate(1)|skin(2)	38						c.(1447-1449)ccG>ccA		acyl-CoA synthetase long-chain family member 1	Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)						57	57	57					4																	185684393		2203	4300	6503	SO:0001819	synonymous_variant	2180				digestion|fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|regulation of fatty acid oxidation|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane	ATP binding|long-chain fatty acid-CoA ligase activity	g.chr4:185684393C>T	BC026290	CCDS3839.1, CCDS68825.1, CCDS68826.1, CCDS75213.1	4q35.1	2014-08-08	2004-02-19	2004-02-20	ENSG00000151726	ENSG00000151726	6.2.1.3	"Acyl-CoA synthetase family"	3569	protein-coding gene	gene with protein product	"lignoceroyl-CoA synthase", "long-chain fatty-acid-coenzyme A ligase 1"	152425	"fatty-acid-Coenzyme A ligase, long-chain 2"	FACL2		2341402, 1531127	Standard	XM_005262828		Approved	LACS2, LACS, ACS1, LACS1, FACL1	uc003iwu.1	P33121	OTTHUMG00000160547	ENST00000515030.1:c.1449G>A	4.37:g.185684393C>T						ACSL1_ENST00000454703.2_Silent_p.P312P|ACSL1_ENST00000504342.1_Silent_p.P483P|ACSL1_ENST00000513317.1_Silent_p.P483P|ACSL1_ENST00000507295.1_Silent_p.P449P|ACSL1_ENST00000437665.3_Silent_p.P312P|ACSL1_ENST00000281455.2_Silent_p.P483P	p.P483P			P33121	ACSL1_HUMAN		all cancers(43;1.33e-28)|Epithelial(43;5.3e-25)|OV - Ovarian serous cystadenocarcinoma(60;4.88e-11)|Colorectal(24;3.59e-06)|STAD - Stomach adenocarcinoma(60;2.72e-05)|GBM - Glioblastoma multiforme(59;2.83e-05)|BRCA - Breast invasive adenocarcinoma(30;7.66e-05)|COAD - Colon adenocarcinoma(29;0.000538)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.0419)	16	1774	-		all_lung(41;7.57e-14)|Lung NSC(41;1.81e-13)|Colorectal(36;0.00172)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0315)|all_neural(102;0.107)|Medulloblastoma(177;0.146)	483					B7Z452|D3DP57|P41215|Q8N8V7|Q8TA99	Silent	SNP	ENST00000515030.1	37	c.1449G>A	CCDS3839.1																																																																																				0.438	ACSL1-011	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361112.2	NM_001995		11	21	0	0	0	1	0	11	21					T	185684393	C	T	185684393	2	4	435	1	0	0	0	0	0	0	0	1	177	871	31	2		2	ACSL1	4	185684393	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	752923	185684393	5469883	2535	23460											
ACSL1	2180	broad.mit.edu	37	chr4	185687880	185687880	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggcaaagtccaagagccatcGcttcagcgtggtgtttgctt	8	11	12	10	2	1	1	1	0	0	1	3	1	2	1	2	2	3	4	2	2	2	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:185687880G>A	ENST00000515030.1	-	13	1484	c.1159C>T	c.(1159-1161)Cga>Tga	p.R387*	ACSL1_ENST00000513317.1_Nonsense_Mutation_p.R387*|ACSL1_ENST00000507295.1_Nonsense_Mutation_p.R353*|ACSL1_ENST00000504342.1_Nonsense_Mutation_p.R387*|ACSL1_ENST00000454703.2_Nonsense_Mutation_p.R216*|ACSL1_ENST00000437665.3_Nonsense_Mutation_p.R216*|ACSL1_ENST00000281455.2_Nonsense_Mutation_p.R387*			P33121	ACSL1_HUMAN	acyl-CoA synthetase long-chain family member 1	387					adiponectin-activated signaling pathway (GO:0033211)|alpha-linolenic acid metabolic process (GO:0036109)|cellular lipid metabolic process (GO:0044255)|linoleic acid metabolic process (GO:0043651)|lipid biosynthetic process (GO:0008610)|long-chain fatty acid import (GO:0044539)|long-chain fatty acid metabolic process (GO:0001676)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|response to drug (GO:0042493)|response to nutrient (GO:0007584)|response to oleic acid (GO:0034201)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|unsaturated fatty acid metabolic process (GO:0033559)|xenobiotic catabolic process (GO:0042178)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|peroxisomal membrane (GO:0005778)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|long-chain fatty acid-CoA ligase activity (GO:0004467)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|liver(1)|lung(17)|ovary(2)|prostate(1)|skin(2)	38		all_lung(41;7.57e-14)|Lung NSC(41;1.81e-13)|Colorectal(36;0.00172)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0315)|all_neural(102;0.107)|Medulloblastoma(177;0.146)		all cancers(43;1.33e-28)|Epithelial(43;5.3e-25)|OV - Ovarian serous cystadenocarcinoma(60;4.88e-11)|Colorectal(24;3.59e-06)|STAD - Stomach adenocarcinoma(60;2.72e-05)|GBM - Glioblastoma multiforme(59;2.83e-05)|BRCA - Breast invasive adenocarcinoma(30;7.66e-05)|COAD - Colon adenocarcinoma(29;0.000538)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.0419)	Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	AAGAGCCATCGCTTCAGCGTG	0.488																																						ENST00000515030.1																			0				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|liver(1)|lung(17)|ovary(2)|prostate(1)|skin(2)	38						c.(1159-1161)Cga>Tga		acyl-CoA synthetase long-chain family member 1	Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)						101	95	97					4																	185687880		2203	4300	6503	SO:0001587	stop_gained	2180				digestion|fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|regulation of fatty acid oxidation|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane	ATP binding|long-chain fatty acid-CoA ligase activity	g.chr4:185687880G>A	BC026290	CCDS3839.1, CCDS68825.1, CCDS68826.1, CCDS75213.1	4q35.1	2014-08-08	2004-02-19	2004-02-20	ENSG00000151726	ENSG00000151726	6.2.1.3	"Acyl-CoA synthetase family"	3569	protein-coding gene	gene with protein product	"lignoceroyl-CoA synthase", "long-chain fatty-acid-coenzyme A ligase 1"	152425	"fatty-acid-Coenzyme A ligase, long-chain 2"	FACL2		2341402, 1531127	Standard	XM_005262828		Approved	LACS2, LACS, ACS1, LACS1, FACL1	uc003iwu.1	P33121	OTTHUMG00000160547	ENST00000515030.1:c.1159C>T	4.37:g.185687880G>A	ENSP00000422607:p.Arg387*					ACSL1_ENST00000454703.2_Nonsense_Mutation_p.R216*|ACSL1_ENST00000504342.1_Nonsense_Mutation_p.R387*|ACSL1_ENST00000513317.1_Nonsense_Mutation_p.R387*|ACSL1_ENST00000507295.1_Nonsense_Mutation_p.R353*|ACSL1_ENST00000437665.3_Nonsense_Mutation_p.R216*|ACSL1_ENST00000281455.2_Nonsense_Mutation_p.R387*	p.R387*			P33121	ACSL1_HUMAN		all cancers(43;1.33e-28)|Epithelial(43;5.3e-25)|OV - Ovarian serous cystadenocarcinoma(60;4.88e-11)|Colorectal(24;3.59e-06)|STAD - Stomach adenocarcinoma(60;2.72e-05)|GBM - Glioblastoma multiforme(59;2.83e-05)|BRCA - Breast invasive adenocarcinoma(30;7.66e-05)|COAD - Colon adenocarcinoma(29;0.000538)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.0419)	13	1484	-		all_lung(41;7.57e-14)|Lung NSC(41;1.81e-13)|Colorectal(36;0.00172)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0315)|all_neural(102;0.107)|Medulloblastoma(177;0.146)	387					B7Z452|D3DP57|P41215|Q8N8V7|Q8TA99	Nonsense_Mutation	SNP	ENST00000515030.1	37	c.1159C>T	CCDS3839.1	.	.	.	.	.	.	.	.	.	.	G	40	8.213263	0.98709	.	.	ENSG00000151726	ENST00000454703;ENST00000515030;ENST00000281455;ENST00000507295;ENST00000437665;ENST00000504342;ENST00000513317	.	.	.	5.06	4.2	0.49525	.	0.163547	0.51477	D	0.000082	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-12.5735	12.6955	0.57001	0.0:0.0:0.572:0.428	.	.	.	.	X	216;387;387;353;216;387;387	.	ENSP00000281455:R387X	R	-	1	2	ACSL1	185924874	0.259000	0.24043	1.000000	0.80357	0.976000	0.68499	1.240000	0.32731	1.093000	0.41377	0.655000	0.94253	CGA		0.488	ACSL1-011	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361112.2	NM_001995		13	45	0	0	0	1	0	13	45					A	185687880	G	A	185687880	4	1	435	1	0	0	0	0	0	1	0	0	177	1095	38	1	973	1	ACSL1	4	185687880	Nonsense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	3487	185687880	5466396	2536	23461											
KIAA1430	57587	broad.mit.edu	37	chr4	186097206	186097206	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tttatctaattgcagaaaagCtacagaaaagaacaaaaaaa	23	8	5	5	0	1	3	0	0	1	3	1	3	1	3	0	0	4	2	0	0	11	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:186097206C>T	ENST00000458385.2	-	3	1174		c.e3-1		KIAA1430_ENST00000296775.6_Splice_Site|KIAA1430_ENST00000514798.1_Splice_Site|KIAA1430_ENST00000502992.1_Splice_Site	NM_020827.1	NP_065878.1	Q9P2B7	K1430_HUMAN												endometrium(3)|kidney(2)|large_intestine(5)|upper_aerodigestive_tract(1)	11		all_lung(41;1.19e-13)|Lung NSC(41;3.16e-13)|Hepatocellular(41;0.00826)|Colorectal(36;0.00872)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.243)		all cancers(43;9.44e-26)|Epithelial(43;2.64e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.66e-11)|Colorectal(24;6.03e-05)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.000331)|COAD - Colon adenocarcinoma(29;0.000427)|STAD - Stomach adenocarcinoma(60;0.000777)|LUSC - Lung squamous cell carcinoma(40;0.00924)|READ - Rectum adenocarcinoma(43;0.165)		TGCAGAAAAGCTACAGAAAAG	0.348																																						ENST00000458385.2																			0				endometrium(3)|kidney(2)|large_intestine(5)|upper_aerodigestive_tract(1)	11						c.e3-1		KIAA1430							62	53	56					4																	186097206		1822	4061	5883	SO:0001630	splice_region_variant	57587							g.chr4:186097206C>T																												ENST00000458385.2:c.1055-1G>A	4.37:g.186097206C>T						KIAA1430_ENST00000296775.6_Splice_Site|KIAA1430_ENST00000514798.1_Splice_Site|KIAA1430_ENST00000502992.1_Splice_Site		NM_020827.1	NP_065878.1	Q9P2B7	K1430_HUMAN		all cancers(43;9.44e-26)|Epithelial(43;2.64e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.66e-11)|Colorectal(24;6.03e-05)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.000331)|COAD - Colon adenocarcinoma(29;0.000427)|STAD - Stomach adenocarcinoma(60;0.000777)|LUSC - Lung squamous cell carcinoma(40;0.00924)|READ - Rectum adenocarcinoma(43;0.165)	3	1174	-		all_lung(41;1.19e-13)|Lung NSC(41;3.16e-13)|Hepatocellular(41;0.00826)|Colorectal(36;0.00872)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.243)						B3KRP7|D3DP60|Q05CU1|Q4W5M4|Q8N6E7|Q9UF45	Splice_Site	SNP	ENST00000458385.2	37		CCDS47168.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.270348	0.80469	.	.	ENSG00000164323	ENST00000458385;ENST00000514798;ENST00000296775	.	.	.	5.88	5.88	0.94601	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.8526	0.96746	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	KIAA1430	186334200	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.273000	0.72581	2.788000	0.95919	0.650000	0.86243	.		0.348	KIAA1430-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000360717.2		Intron	9	8	0	0	0	1	0	9	8					T	186097206	C	T	186097206	5	4	435	1	0	0	0	0	0	0	1	0	8232	811	28	3	556	3	KIAA1430	4	186097206	Splice_Site	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	409326	186097206	5057070	2537	23462											
SNX25	83891	broad.mit.edu	37	chr4	186188122	186188122	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatttcttcttcttcctgtaGtcttgaagccggtagtggag	6	17	10	8	1	4	1	0	1	4	0	5	2	5	2	2	2	1	2	2	2	4	8			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:186188122G>A	ENST00000504273.1	+	5	706		c.e5-1		SNX25_ENST00000264694.8_Splice_Site			Q9H3E2	SNX25_HUMAN	sorting nexin 25						negative regulation of pathway-restricted SMAD protein phosphorylation (GO:0060394)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|protein transport (GO:0015031)|receptor catabolic process (GO:0032801)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	endosome (GO:0005768)|membrane (GO:0016020)	phosphatidylinositol binding (GO:0035091)			NS(1)|breast(4)|endometrium(2)|kidney(4)|large_intestine(8)|lung(13)|ovary(2)|pancreas(2)|prostate(2)|urinary_tract(2)	40		all_lung(41;1.03e-13)|Lung NSC(41;2.5e-13)|Hepatocellular(41;0.00826)|Colorectal(36;0.00886)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.243)		all cancers(43;2.13e-24)|Epithelial(43;6.15e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.6e-11)|BRCA - Breast invasive adenocarcinoma(30;0.00013)|Colorectal(24;0.000165)|GBM - Glioblastoma multiforme(59;0.000357)|COAD - Colon adenocarcinoma(29;0.000887)|STAD - Stomach adenocarcinoma(60;0.00118)|LUSC - Lung squamous cell carcinoma(40;0.0129)|READ - Rectum adenocarcinoma(43;0.228)		TCTTCCTGTAGTCTTGAAGCC	0.398																																						ENST00000504273.1																			0				NS(1)|breast(4)|endometrium(2)|kidney(4)|large_intestine(8)|lung(13)|ovary(2)|pancreas(2)|prostate(2)|urinary_tract(2)	40						c.e5-1		sorting nexin 25							62	59	60					4																	186188122		2203	4300	6503	SO:0001630	splice_region_variant	83891				cell communication|protein transport	endosome membrane	phosphatidylinositol binding|signal transducer activity	g.chr4:186188122G>A	AF113223	CCDS34116.1	4q35.1	2011-05-03			ENSG00000109762	ENSG00000109762		"Sorting nexins"	21883	protein-coding gene	gene with protein product						12461558	Standard	NM_031953		Approved	SBBI31	uc003ixh.3	Q9H3E2	OTTHUMG00000160475	ENST00000504273.1:c.413-1G>A	4.37:g.186188122G>A						SNX25_ENST00000264694.8_Splice_Site				Q9H3E2	SNX25_HUMAN		all cancers(43;2.13e-24)|Epithelial(43;6.15e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.6e-11)|BRCA - Breast invasive adenocarcinoma(30;0.00013)|Colorectal(24;0.000165)|GBM - Glioblastoma multiforme(59;0.000357)|COAD - Colon adenocarcinoma(29;0.000887)|STAD - Stomach adenocarcinoma(60;0.00118)|LUSC - Lung squamous cell carcinoma(40;0.0129)|READ - Rectum adenocarcinoma(43;0.228)	5	706	+		all_lung(41;1.03e-13)|Lung NSC(41;2.5e-13)|Hepatocellular(41;0.00826)|Colorectal(36;0.00886)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.243)						Q3ZT30|Q8N6K3	Splice_Site	SNP	ENST00000504273.1	37		CCDS34116.1	.	.	.	.	.	.	.	.	.	.	G	19.55	3.848525	0.71603	.	.	ENSG00000109762	ENST00000504273;ENST00000264694	.	.	.	5.16	5.16	0.70880	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.8256	0.92117	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SNX25	186425116	1.000000	0.71417	1.000000	0.80357	0.713000	0.41058	9.253000	0.95501	2.682000	0.91365	0.591000	0.81541	.		0.398	SNX25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360756.1	NM_031953	Intron	15	44	0	0	0	1	0	15	44					A	186188122	G	A	186188122	5	1	435	1	0	0	0	0	0	0	1	0	14896	1043	36	3	426	3	SNX25	4	186188122	Splice_Site	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	90916	186188122	4966154	2538	23463											
UFSP2	55325	broad.mit.edu	37	chr4	186329445	186329445	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctgctgaatttctctgtgtgTtggaatggacctctctgtgt	5	17	11	8	0	2	1	0	1	2	0	4	3	2	3	1	2	1	2	1	2	2	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:186329445T>C	ENST00000264689.6	-	8	1092	c.976A>G	c.(976-978)Aca>Gca	p.T326A		NM_018359.3	NP_060829.2	Q9NUQ7	UFSP2_HUMAN	UFM1-specific peptidase 2	326						cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)	small conjugating protein-specific protease activity (GO:0019783)|thiolester hydrolase activity (GO:0016790)			endometrium(3)|kidney(1)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	12		all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;0.00109)|Colorectal(36;0.0215)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)		all cancers(43;3.4e-25)|Epithelial(43;2.23e-22)|OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;8.1e-05)|GBM - Glioblastoma multiforme(59;0.000148)|STAD - Stomach adenocarcinoma(60;0.000782)|LUSC - Lung squamous cell carcinoma(40;0.00939)|COAD - Colon adenocarcinoma(29;0.0108)|READ - Rectum adenocarcinoma(43;0.166)		TCTCTGTGTGTTGGAATGGAC	0.398																																						ENST00000264689.6																			0				endometrium(3)|kidney(1)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						c.(976-978)Aca>Gca		UFM1-specific peptidase 2							148	134	139					4																	186329445		2203	4300	6503	SO:0001583	missense	55325					endoplasmic reticulum|nucleus	small conjugating protein-specific protease activity	g.chr4:186329445T>C	AK002062	CCDS3842.1	4q35.1	2008-03-25	2008-03-25	2008-03-25	ENSG00000109775	ENSG00000109775			25640	protein-coding gene	gene with protein product		611482	"chromosome 4 open reading frame 20"	C4orf20		17182609	Standard	NM_018359		Approved	FLJ11200	uc003ixo.2	Q9NUQ7	OTTHUMG00000160441	ENST00000264689.6:c.976A>G	4.37:g.186329445T>C	ENSP00000264689:p.Thr326Ala						p.T326A	NM_018359.3	NP_060829.2	Q9NUQ7	UFSP2_HUMAN		all cancers(43;3.4e-25)|Epithelial(43;2.23e-22)|OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;8.1e-05)|GBM - Glioblastoma multiforme(59;0.000148)|STAD - Stomach adenocarcinoma(60;0.000782)|LUSC - Lung squamous cell carcinoma(40;0.00939)|COAD - Colon adenocarcinoma(29;0.0108)|READ - Rectum adenocarcinoma(43;0.166)	8	1092	-		all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;0.00109)|Colorectal(36;0.0215)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)	326					Q6IA77|Q96FS3	Missense_Mutation	SNP	ENST00000264689.6	37	c.976A>G	CCDS3842.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	19.75|19.75	3.885708|3.885708	0.72410|0.72410	.|.	.|.	ENSG00000109775|ENSG00000109775	ENST00000511485|ENST00000264689	.|T	.|0.33216	.|1.42	5.91|5.91	5.91|5.91	0.95273|0.95273	.|.	.|0.099013	.|0.64402	.|D	.|0.000002	T|T	0.54029|0.54029	0.1833|0.1833	M|M	0.91972|0.91972	3.26|3.26	0.58432|0.58432	D|D	0.999998|0.999998	.|P;P	.|0.50943	.|0.94;0.852	.|P;B	.|0.49276	.|0.605;0.355	T|T	0.66520|0.66520	-0.5903|-0.5903	5|10	.|0.72032	.|D	.|0.01	7.2661|7.2661	16.3514|16.3514	0.83213|0.83213	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|326;226	.|Q9NUQ7;B3KRI4	.|UFSP2_HUMAN;.	S|A	224|326	.|ENSP00000264689:T326A	.|ENSP00000264689:T326A	N|T	-|-	2|1	0|0	UFSP2|UFSP2	186566439|186566439	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	4.716000|4.716000	0.61916|0.61916	2.252000|2.252000	0.74401|0.74401	0.533000|0.533000	0.62120|0.62120	AAC|ACA		0.398	UFSP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360589.2	NM_018359		14	68	0	0	0	1	0	14	68					C	186329445	T	C	186329445	3	2	435	1	0	0	0	0	1	0	0	0	16935	1725	60	4	453	4	UFSP2	4	186329445	Missense_Mutation	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	141323	186329445	4824831	2539	23464											
CCDC110	256309	broad.mit.edu	37	chr4	186381043	186381043	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	catctaaattttcacaaaatCcatgcttgagaaaaggcaca	17	10	5	9	0	2	1	1	1	1	1	3	2	3	1	1	1	1	2	1	1	6	4	rs77987360	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:186381043C>T	ENST00000307588.3	-	6	773	c.698G>A	c.(697-699)gGa>gAa	p.G233E	CCDC110_ENST00000507501.1_5'Flank|CCDC110_ENST00000510617.1_Missense_Mutation_p.G233E|CCDC110_ENST00000393540.3_Missense_Mutation_p.G196E	NM_152775.3	NP_689988.1	Q8TBZ0	CC110_HUMAN	coiled-coil domain containing 110	233						nucleus (GO:0005634)				NS(1)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(9)	30		all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;7.86e-05)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|Colorectal(36;0.0381)|all_hematologic(60;0.0749)		OV - Ovarian serous cystadenocarcinoma(60;1.13e-10)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.00014)|STAD - Stomach adenocarcinoma(60;0.000777)|LUSC - Lung squamous cell carcinoma(40;0.00921)|COAD - Colon adenocarcinoma(29;0.0105)|READ - Rectum adenocarcinoma(43;0.164)		TTCACAAAATCCATGCTTGAG	0.353													C|||	14	0.00279553	0.0106	0	5008	,	,		20490	0		0	False		,,,				2504	0					ENST00000307588.3																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(9)	30						c.(697-699)gGa>gAa		coiled-coil domain containing 110		C	GLU/GLY,GLU/GLY	40,4366	43.8+/-77.6	0,40,2163	72	71	71		587,698	2.7	1	4	dbSNP_131	71	0,8596		0,0,4298	yes	missense,missense	CCDC110	NM_001145411.1,NM_152775.3	98,98	0,40,6461	TT,TC,CC		0.0,0.9079,0.3076	benign,benign	196/797,233/834	186381043	40,12962	2203	4298	6501	SO:0001583	missense	256309					nucleus		g.chr4:186381043C>T	AB080722	CCDS3843.1, CCDS47170.1	4q35.1	2010-12-24			ENSG00000168491	ENSG00000168491			28504	protein-coding gene	gene with protein product	"cancer/testis antigen 52"	609488				18160854	Standard	NM_152775		Approved	KM-HN-1, MGC33607, CT52	uc003ixu.4	Q8TBZ0	OTTHUMG00000160415	ENST00000307588.3:c.698G>A	4.37:g.186381043C>T	ENSP00000306776:p.Gly233Glu					CCDC110_ENST00000393540.3_Missense_Mutation_p.G196E|CCDC110_ENST00000510617.1_Missense_Mutation_p.G233E	p.G233E	NM_152775.3	NP_689988.1	Q8TBZ0	CC110_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.13e-10)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.00014)|STAD - Stomach adenocarcinoma(60;0.000777)|LUSC - Lung squamous cell carcinoma(40;0.00921)|COAD - Colon adenocarcinoma(29;0.0105)|READ - Rectum adenocarcinoma(43;0.164)	6	773	-		all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;7.86e-05)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|Colorectal(36;0.0381)|all_hematologic(60;0.0749)	233					Q86YI9|Q8N7W0	Missense_Mutation	SNP	ENST00000307588.3	37	c.698G>A	CCDS3843.1	8	0.003663003663003663	8	0.016260162601626018	0	0.0	0	0.0	0	0.0	C	13.02	2.112197	0.37242	0.009079	0.0	ENSG00000168491	ENST00000393540;ENST00000307588;ENST00000510617;ENST00000506876	T;T;T;T	0.42900	3.53;3.51;3.51;0.96	5.8	2.69	0.31865	.	0.357615	0.24001	N	0.042467	T	0.13628	0.0330	L	0.38838	1.175	0.30402	N	0.779884	B;B;B	0.14805	0.011;0.009;0.011	B;B;B	0.17433	0.018;0.013;0.018	T	0.12578	-1.0542	10	0.14656	T	0.56	-14.0978	4.6678	0.12675	0.1686:0.5791:0.0:0.2524	.	233;196;233	B4DZA2;Q8TBZ0-2;Q8TBZ0	.;.;CC110_HUMAN	E	196;233;233;253	ENSP00000377172:G196E;ENSP00000306776:G233E;ENSP00000427246:G233E;ENSP00000425276:G253E	ENSP00000306776:G233E	G	-	2	0	CCDC110	186618037	0.050000	0.20438	0.995000	0.50966	0.972000	0.66771	0.474000	0.22148	0.769000	0.33313	0.650000	0.86243	GGA		0.353	CCDC110-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000360519.2	NM_152775		24	27	0	0	0	1	0	24	27					T	186381043	C	T	186381043	3	4	435	1	0	0	0	0	1	0	0	0	2747	855	30	3	1811	3	CCDC110	4	186381043	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	51598	186381043	4773233	2540	23465											
SORBS2	8470	broad.mit.edu	37	chr4	186536198	186536198	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	agagaaagggagaggacctaCctctacgtatgagatcggga	14	6	14	7	2	1	3	0	1	1	3	2	8	1	5	2	3	2	1	2	3	4	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:186536198C>T	ENST00000284776.7	-	16	3264		c.e16+1		SORBS2_ENST00000393528.3_Splice_Site|SORBS2_ENST00000449407.2_Splice_Site|SORBS2_ENST00000437304.2_Splice_Site|SORBS2_ENST00000431808.1_Splice_Site|SORBS2_ENST00000319471.9_Splice_Site|SORBS2_ENST00000355634.5_Splice_Site|SORBS2_ENST00000498125.1_Splice_Site|SORBS2_ENST00000448662.2_Splice_Site|SORBS2_ENST00000418609.1_Splice_Site	NM_021069.4	NP_066547.1	O94875	SRBS2_HUMAN	sorbin and SH3 domain containing 2						actin filament organization (GO:0007015)|cell adhesion (GO:0007155)|cell migration (GO:0016477)	actin cytoskeleton (GO:0015629)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|Z disc (GO:0030018)	cytoskeletal adaptor activity (GO:0008093)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)			endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1)	53		all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)		AGAGGACCTACCTCTACGTAT	0.458																																					Esophageal Squamous(153;41 2433 9491 36028)	ENST00000431808.1																			0				endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1)	53						c.e17+1		sorbin and SH3 domain containing 2							135	129	131					4																	186536198		2203	4300	6503	SO:0001630	splice_region_variant	8470					actin cytoskeleton|nucleus|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding	g.chr4:186536198C>T		CCDS3845.1, CCDS43289.2, CCDS47173.1, CCDS47174.1, CCDS47175.1, CCDS47176.1, CCDS54825.1, CCDS59482.1	4q35.1	2008-02-05			ENSG00000154556	ENSG00000154556			24098	protein-coding gene	gene with protein product	"Arg/Abl interacting protein"					9211900, 9872452	Standard	NM_021069		Approved	ARGBP2, KIAA0777	uc003iym.3	O94875	OTTHUMG00000157215	ENST00000284776.7:c.2754+1G>A	4.37:g.186536198C>T						SORBS2_ENST00000437304.2_Splice_Site|SORBS2_ENST00000284776.7_Splice_Site|SORBS2_ENST00000393528.3_Splice_Site|SORBS2_ENST00000319471.9_Splice_Site|SORBS2_ENST00000498125.1_Splice_Site|SORBS2_ENST00000355634.5_Splice_Site|SORBS2_ENST00000418609.1_Splice_Site|SORBS2_ENST00000449407.2_Splice_Site|SORBS2_ENST00000448662.2_Splice_Site				O94875	SRBS2_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)	17	3318	-		all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244)						A6NEK9|B3KPQ7|B7Z1G5|B7Z3X6|C9JKV9|D3DP62|D3DP63|E9PAS5|E9PAW4|G3XAI0|H7BXR4|J3KNZ5|O60592|O60593|Q96EX0	Splice_Site	SNP	ENST00000284776.7	37		CCDS3845.1	.	.	.	.	.	.	.	.	.	.	C	16.63	3.176180	0.57692	.	.	ENSG00000154556	ENST00000284776;ENST00000448662;ENST00000431808;ENST00000418609;ENST00000437304;ENST00000319471;ENST00000449407;ENST00000355634;ENST00000393528;ENST00000319454;ENST00000451974	.	.	.	6.16	6.16	0.99307	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.8598	0.99761	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SORBS2	186773192	1.000000	0.71417	0.998000	0.56505	0.343000	0.28985	7.802000	0.85969	2.937000	0.99478	0.650000	0.86243	.		0.458	SORBS2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000347944.3	NM_003603	Intron	10	35	0	0	0	1	0	10	35					T	186536198	C	T	186536198	5	4	435	1	0	0	0	0	0	0	1	0	14928	521	18	3	571	3	SORBS2	4	186536198	Splice_Site	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	155155	186536198	4618078	2541	23466											
CYP4V2	285440	broad.mit.edu	37	chr4	187130097	187130097	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgttattaaggagacccttcGcctttttccttctgttcctt	5	19	6	11	1	1	1	0	0	1	1	4	2	3	1	4	1	0	2	4	1	2	8	rs199476201		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:187130097G>A	ENST00000378802.4	+	9	1473	c.1169G>A	c.(1168-1170)cGc>cAc	p.R390H	CYP4V2_ENST00000502665.1_3'UTR	NM_207352.3	NP_997235.3	Q6ZWL3	CP4V2_HUMAN	cytochrome P450, family 4, subfamily V, polypeptide 2	390					fatty acid omega-oxidation (GO:0010430)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen (GO:0016705)			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|skin(1)|stomach(2)	20		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.33e-10)|BRCA - Breast invasive adenocarcinoma(30;3.84e-05)|GBM - Glioblastoma multiforme(59;0.000132)|STAD - Stomach adenocarcinoma(60;0.000293)|LUSC - Lung squamous cell carcinoma(40;0.00242)|READ - Rectum adenocarcinoma(43;0.17)		GAGACCCTTCGCCTTTTTCCT	0.428																																						ENST00000378802.4																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|skin(1)|stomach(2)	20						c.(1168-1170)cGc>cAc		cytochrome P450, family 4, subfamily V, polypeptide 2							191	180	184					4																	187130097		2203	4300	6503	SO:0001583	missense	285440				response to stimulus|visual perception	endoplasmic reticulum membrane|integral to membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen	g.chr4:187130097G>A	AK022114	CCDS34119.1	4q35.2	2004-07-05			ENSG00000145476	ENSG00000145476		"Cytochrome P450s"	23198	protein-coding gene	gene with protein product		608614				15042513	Standard	NM_207352		Approved	CYP4AH1	uc003iyw.4	Q6ZWL3	OTTHUMG00000160379	ENST00000378802.4:c.1169G>A	4.37:g.187130097G>A	ENSP00000368079:p.Arg390His					CYP4V2_ENST00000502665.1_3'UTR	p.R390H	NM_207352.3	NP_997235.3	Q6ZWL3	CP4V2_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.33e-10)|BRCA - Breast invasive adenocarcinoma(30;3.84e-05)|GBM - Glioblastoma multiforme(59;0.000132)|STAD - Stomach adenocarcinoma(60;0.000293)|LUSC - Lung squamous cell carcinoma(40;0.00242)|READ - Rectum adenocarcinoma(43;0.17)	9	1473	+		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)	390					B7U6W2|Q6ZTM4	Missense_Mutation	SNP	ENST00000378802.4	37	c.1169G>A	CCDS34119.1	.	.	.	.	.	.	.	.	.	.	G	35	5.492606	0.96339	.	.	ENSG00000145476	ENST00000378802;ENST00000274118	D	0.97505	-4.41	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	D	0.99077	0.9683	H	0.96015	3.755	0.80722	A	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99180	1.0867	9	0.87932	D	0	.	19.8478	0.96722	0.0:0.0:1.0:0.0	.	390	Q6ZWL3	CP4V2_HUMAN	H	390;368	ENSP00000368079:R390H	ENSP00000274118:R368H	R	+	2	0	CYP4V2	187367091	1.000000	0.71417	0.981000	0.43875	0.994000	0.84299	9.685000	0.98661	2.698000	0.92095	0.655000	0.94253	CGC		0.428	CYP4V2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360398.1	XM_209612		10	59	0	0	0	1	0	10	59					A	187130097	G	A	187130097	3	1	435	1	0	0	0	0	1	0	0	0	4192	1087	38	1	1203	1	CYP4V2	4	187130097	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	593899	187130097	4024179	2542	23467											
KLKB1	3818	broad.mit.edu	37	chr4	187173195	187173195	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cacaacaaaaacaagcacacGcattgttggaggaacaaact	19	5	7	10	1	0	0	0	0	0	0	0	2	0	2	0	2	5	3	0	2	6	2	rs369481447		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:187173195G>A	ENST00000264690.6	+	11	1356	c.1169G>A	c.(1168-1170)cGc>cAc	p.R390H	KLKB1_ENST00000513864.1_Missense_Mutation_p.R390H	NM_000892.3	NP_000883.2	P03952	KLKB1_HUMAN	kallikrein B, plasma (Fletcher factor) 1	390					blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|Factor XII activation (GO:0002542)|fibrinolysis (GO:0042730)|plasminogen activation (GO:0031639)|positive regulation of fibrinolysis (GO:0051919)|proteolysis (GO:0006508)|zymogen activation (GO:0031638)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)	p.R390H(2)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	40		all_cancers(14;1.55e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00664)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.29e-10)|BRCA - Breast invasive adenocarcinoma(30;3.8e-05)|GBM - Glioblastoma multiforme(59;0.000131)|STAD - Stomach adenocarcinoma(60;0.000292)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.168)		ACAAGCACACGCATTGTTGGA	0.502																																						ENST00000264690.6																			2	Substitution - Missense(2)	p.R390H(2)	endometrium(2)	breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	40						c.(1168-1170)cGc>cAc		kallikrein B, plasma (Fletcher factor) 1		G	HIS/ARG	0,4406		0,0,2203	103	99	100		1169	5.6	1	4		100	1,8599	1.2+/-3.3	0,1,4299	no	missense	KLKB1	NM_000892.3	29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	390/639	187173195	1,13005	2203	4300	6503	SO:0001583	missense	3818				blood coagulation, intrinsic pathway|Factor XII activation|fibrinolysis|plasminogen activation|positive regulation of fibrinolysis	cytoplasm|extracellular space|plasma membrane	serine-type endopeptidase activity	g.chr4:187173195G>A	M13143	CCDS34120.1	4q35	2008-02-05			ENSG00000164344	ENSG00000164344		"Kallikreins"	6371	protein-coding gene	gene with protein product		229000		KLK3		9535413, 3521732	Standard	XM_005262987		Approved		uc003iyy.3	P03952	OTTHUMG00000150347	ENST00000264690.6:c.1169G>A	4.37:g.187173195G>A	ENSP00000264690:p.Arg390His					KLKB1_ENST00000513864.1_Missense_Mutation_p.R390H	p.R390H	NM_000892.3	NP_000883.2	P03952	KLKB1_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.29e-10)|BRCA - Breast invasive adenocarcinoma(30;3.8e-05)|GBM - Glioblastoma multiforme(59;0.000131)|STAD - Stomach adenocarcinoma(60;0.000292)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.168)	11	1356	+		all_cancers(14;1.55e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00664)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)	390					A6NH96|B2R8H9|Q17RE8|Q17RE9|Q4W5C3	Missense_Mutation	SNP	ENST00000264690.6	37	c.1169G>A	CCDS34120.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	22.4|22.4	4.284263|4.284263	0.80803|0.80803	0.0|0.0	1.16E-4|1.16E-4	ENSG00000164344|ENSG00000164344	ENST00000511608|ENST00000264690;ENST00000513864;ENST00000418715	.|D;D	.|0.94966	.|-3.57;-3.57	5.58|5.58	5.58|5.58	0.84498|0.84498	.|Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (1);	.|0.188357	.|0.36167	.|N	.|0.002753	D|D	0.97433|0.97433	0.9160|0.9160	M|M	0.81341|0.81341	2.54|2.54	0.51012|0.51012	D|D	0.999901|0.999901	.|D;D;D	.|0.89917	.|1.0;1.0;1.0	.|D;D;D	.|0.87578	.|0.994;0.983;0.998	D|D	0.97628|0.97628	1.0140|1.0140	5|10	.|0.87932	.|D	.|0	.|.	19.9477|19.9477	0.97189|0.97189	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|352;390;390	.|E7EQA8;A8K9A9;P03952	.|.;.;KLKB1_HUMAN	T|H	438|390;390;352	.|ENSP00000264690:R390H;ENSP00000424469:R390H	.|ENSP00000264690:R390H	A|R	+|+	1|2	0|0	KLKB1|KLKB1	187410189|187410189	0.997000|0.997000	0.39634|0.39634	0.988000|0.988000	0.46212|0.46212	0.177000|0.177000	0.22998|0.22998	7.651000|7.651000	0.83577|0.83577	2.793000|2.793000	0.96121|0.96121	0.645000|0.645000	0.84053|0.84053	GCA|CGC		0.502	KLKB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317732.1	NM_000892		6	61	0	0	0	1	0	6	61					A	187173195	G	A	187173195	3	1	435	1	0	0	0	0	1	0	0	0	8412	1087	38	1	1207	1	KLKB1	4	187173195	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	43098	187173195	3981081	2543	23468											
FAT1	2195	broad.mit.edu	37	chr4	187531072	187531072	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttaacgttcacagtggcaacGtcgctcagtgaaggcgtgcc	9	9	12	11	4	2	1	2	1	0	0	3	1	2	1	1	2	3	3	1	2	3	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:187531072G>A	ENST00000441802.2	-	15	10160	c.9951C>T	c.(9949-9951)gaC>gaT	p.D3317D		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	3317	Cadherin 30. {ECO:0000255|PROSITE- ProRule:PRU00043}.				actin filament organization (GO:0007015)|anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						CAGTGGCAACGTCGCTCAGTG	0.468										HNSCC(5;0.00058)																											Colon(197;1040 2055 4143 4984 49344)	ENST00000441802.2																			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						c.(9949-9951)gaC>gaT		FAT atypical cadherin 1							115	118	117					4																	187531072		2032	4191	6223	SO:0001819	synonymous_variant	2195				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding	g.chr4:187531072G>A	X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857		"Cadherins / Cadherin-related"	3595	protein-coding gene	gene with protein product	"cadherin-related family member 8"	600976	"FAT tumor suppressor (Drosophila) homolog", "FAT tumor suppressor homolog 1 (Drosophila)"	FAT		8586420	Standard	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.9951C>T	4.37:g.187531072G>A		HNSCC(5;0.00058)					p.D3317D	NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN			15	10160	-			3317			Cadherin 30.			Silent	SNP	ENST00000441802.2	37	c.9951C>T	CCDS47177.1																																																																																				0.468	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3	NM_005245		15	16	0	0	0	1	0	15	16					A	187531072	G	A	187531072	2	1	435	1	0	0	0	0	0	0	0	1	5689	1136	40	1		1	FAT1	4	187531072	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	357877	187531072	3623204	2544	23469											
FAT1	2195	broad.mit.edu	37	chr4	187629095	187629095	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcacctaagccatccattagCgatcgctttaatgacaatac	13	10	6	12	2	0	1	0	1	0	0	2	2	1	1	3	0	3	2	3	0	5	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:187629095C>T	ENST00000441802.2	-	2	2096	c.1887G>A	c.(1885-1887)tcG>tcA	p.S629S		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	629	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				actin filament organization (GO:0007015)|anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						CATCCATTAGCGATCGCTTTA	0.403										HNSCC(5;0.00058)																											Colon(197;1040 2055 4143 4984 49344)	ENST00000441802.2																			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						c.(1885-1887)tcG>tcA		FAT atypical cadherin 1							84	78	80					4																	187629095		1876	4098	5974	SO:0001819	synonymous_variant	2195				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding	g.chr4:187629095C>T	X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857		"Cadherins / Cadherin-related"	3595	protein-coding gene	gene with protein product	"cadherin-related family member 8"	600976	"FAT tumor suppressor (Drosophila) homolog", "FAT tumor suppressor homolog 1 (Drosophila)"	FAT		8586420	Standard	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.1887G>A	4.37:g.187629095C>T		HNSCC(5;0.00058)					p.S629S	NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN			2	2096	-			629			Cadherin 5.			Silent	SNP	ENST00000441802.2	37	c.1887G>A	CCDS47177.1																																																																																				0.403	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3	NM_005245		37	34	0	0	0	1	0	37	34					T	187629095	C	T	187629095	2	4	435	1	0	0	0	0	0	0	0	1	5689	755	27	1		1	FAT1	4	187629095	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	98023	187629095	3525181	2545	23470											
ZFP42	132625	broad.mit.edu	37	chr4	188924725	188924725	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttttgaagggtgcggaaagcGcttctctctggactttaatt	8	15	11	7	2	2	1	0	1	2	0	3	3	2	3	0	3	2	1	0	3	3	6			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:188924725G>A	ENST00000326866.4	+	4	1172	c.764G>A	c.(763-765)cGc>cAc	p.R255H	ZFP42_ENST00000509524.1_Missense_Mutation_p.R255H	NM_174900.3	NP_777560.2	Q96MM3	ZFP42_HUMAN	ZFP42 zinc finger protein	255					female gonad development (GO:0008585)|in utero embryonic development (GO:0001701)|male gonad development (GO:0008584)|meiotic nuclear division (GO:0007126)|regulation of genetic imprinting (GO:2000653)|spermatid development (GO:0007286)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|protein complex (GO:0043234)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|stomach(1)	27		all_cancers(14;6.2e-52)|all_epithelial(14;7.36e-37)|all_lung(41;2.29e-15)|Lung NSC(41;6.7e-15)|Breast(6;1.53e-05)|Melanoma(20;3.01e-05)|Hepatocellular(41;0.00335)|all_hematologic(60;0.014)|Renal(120;0.0183)|Prostate(90;0.0421)|Colorectal(36;0.227)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;4.21e-06)|GBM - Glioblastoma multiforme(59;8.93e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.157)		TGCGGAAAGCGCTTCTCTCTG	0.498																																						ENST00000326866.4																			0				breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|stomach(1)	27						c.(763-765)cGc>cAc		ZFP42 zinc finger protein							82	83	83					4																	188924725		2203	4300	6503	SO:0001583	missense	132625				female gonad development|male gonad development|meiosis	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr4:188924725G>A	AK056719	CCDS3849.1	4q35.2	2014-09-04	2012-11-27		ENSG00000179059	ENSG00000179059		"Zinc fingers, C2H2-type"	30949	protein-coding gene	gene with protein product		614572	"zinc finger protein 42 homolog (mouse)", "zinc finger protein 42"			12110702	Standard	NM_174900		Approved	REX1, ZNF754	uc003izh.1	Q96MM3	OTTHUMG00000160235	ENST00000326866.4:c.764G>A	4.37:g.188924725G>A	ENSP00000317686:p.Arg255His					ZFP42_ENST00000509524.1_Missense_Mutation_p.R255H	p.R255H	NM_174900.3	NP_777560.2	Q96MM3	ZFP42_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;4.21e-06)|GBM - Glioblastoma multiforme(59;8.93e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.157)	4	1172	+		all_cancers(14;6.2e-52)|all_epithelial(14;7.36e-37)|all_lung(41;2.29e-15)|Lung NSC(41;6.7e-15)|Breast(6;1.53e-05)|Melanoma(20;3.01e-05)|Hepatocellular(41;0.00335)|all_hematologic(60;0.014)|Renal(120;0.0183)|Prostate(90;0.0421)|Colorectal(36;0.227)	255					D3DP65|Q8WXE2	Missense_Mutation	SNP	ENST00000326866.4	37	c.764G>A	CCDS3849.1	.	.	.	.	.	.	.	.	.	.	G	16.64	3.180323	0.57800	.	.	ENSG00000179059	ENST00000326866;ENST00000509524	D;D	0.98792	-5.14;-5.14	4.39	3.55	0.40652	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.063070	0.64402	D	0.000006	D	0.97936	0.9321	L	0.55834	1.745	0.37700	D	0.924187	D	0.89917	1.0	P	0.54759	0.76	D	0.98586	1.0652	10	0.56958	D	0.05	.	10.8275	0.46643	0.0938:0.0:0.9062:0.0	.	255	Q96MM3	ZFP42_HUMAN	H	255	ENSP00000317686:R255H;ENSP00000424662:R255H	ENSP00000317686:R255H	R	+	2	0	ZFP42	189161719	1.000000	0.71417	0.997000	0.53966	0.009000	0.06853	7.563000	0.82314	1.443000	0.47586	0.655000	0.94253	CGC		0.498	ZFP42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359794.1	NM_174900		20	35	0	0	0	1	0	20	35					A	188924725	G	A	188924725	3	1	435	1	0	0	0	0	1	0	0	0	17647	1087	38	1	766	1	ZFP42	4	188924725	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	1295630	188924725	2229551	2546	23471											
TRIML2	205860	broad.mit.edu	37	chr4	189020257	189020257	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gatgagctttaggaggctgcGgacctgttcagaagccctgg	8	9	15	9	1	1	2	1	1	0	1	1	5	1	4	2	4	3	3	2	4	2	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:189020257G>A	ENST00000512729.1	-	4	777	c.403C>T	c.(403-405)Cgc>Tgc	p.R135C	TRIML2_ENST00000536972.1_Missense_Mutation_p.R185C|TRIML2_ENST00000326754.3_Missense_Mutation_p.R135C	NM_173553.1	NP_775824.1	Q8N7C3	TRIMM_HUMAN	tripartite motif family-like 2	135					protein ubiquitination (GO:0016567)|response to retinoic acid (GO:0032526)		ligase activity (GO:0016874)			central_nervous_system(2)|kidney(1)|large_intestine(7)|lung(25)|prostate(3)|urinary_tract(1)	39		all_cancers(14;3.11e-44)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|all_hematologic(60;0.0202)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)		OV - Ovarian serous cystadenocarcinoma(60;1.79e-11)|BRCA - Breast invasive adenocarcinoma(30;4.52e-06)|GBM - Glioblastoma multiforme(59;1.62e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.0091)|READ - Rectum adenocarcinoma(43;0.163)		AGGAGGCTGCGGACCTGTTCA	0.483																																						ENST00000512729.1																			0				central_nervous_system(2)|kidney(1)|large_intestine(7)|lung(25)|prostate(3)|urinary_tract(1)	39						c.(403-405)Cgc>Tgc		tripartite motif family-like 2							107	104	105					4																	189020257		2203	4300	6503	SO:0001583	missense	205860						ligase activity	g.chr4:189020257G>A	AK098667	CCDS3850.1	4q35.2	2014-02-12	2007-12-14		ENSG00000179046	ENSG00000179046			26378	protein-coding gene	gene with protein product	"SPRY domain containing 6"						Standard	NM_173553		Approved	FLJ25801, SPRYD6	uc003izl.2	Q8N7C3	OTTHUMG00000160225	ENST00000512729.1:c.403C>T	4.37:g.189020257G>A	ENSP00000422581:p.Arg135Cys					TRIML2_ENST00000326754.3_Missense_Mutation_p.R135C|TRIML2_ENST00000536972.1_Missense_Mutation_p.R185C	p.R135C	NM_173553.1	NP_775824.1	Q8N7C3	TRIMM_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.79e-11)|BRCA - Breast invasive adenocarcinoma(30;4.52e-06)|GBM - Glioblastoma multiforme(59;1.62e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.0091)|READ - Rectum adenocarcinoma(43;0.163)	4	777	-		all_cancers(14;3.11e-44)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|all_hematologic(60;0.0202)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)	135					B7Z6J6	Missense_Mutation	SNP	ENST00000512729.1	37	c.403C>T	CCDS3850.1	.	.	.	.	.	.	.	.	.	.	G	12.19	1.862400	0.32884	.	.	ENSG00000179046	ENST00000512729;ENST00000326754;ENST00000536972	T;T;T	0.58060	3.51;0.36;3.75	4.72	-6.47	0.01902	.	0.361572	0.20462	N	0.091871	T	0.18130	0.0435	N	0.04508	-0.205	0.09310	N	0.999996	B;B;B	0.12630	0.006;0.0;0.0	B;B;B	0.04013	0.001;0.0;0.0	T	0.03761	-1.1006	10	0.44086	T	0.13	.	1.092	0.01665	0.2696:0.1336:0.3359:0.2609	.	185;135;135	B7Z6J6;B7ZLC3;Q8N7C3	.;.;TRIMM_HUMAN	C	135;135;185	ENSP00000422581:R135C;ENSP00000317498:R135C;ENSP00000441236:R185C	ENSP00000317498:R135C	R	-	1	0	TRIML2	189257251	0.000000	0.05858	0.006000	0.13384	0.172000	0.22775	-3.194000	0.00563	-0.991000	0.03476	-0.295000	0.09555	CGC		0.483	TRIML2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000359733.1	NM_173553		36	48	0	0	0	1	0	36	48					A	189020257	G	A	189020257	3	1	435	1	0	0	0	0	1	0	0	0	16548	1116	39	2	776	2	TRIML2	4	189020257	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	95532	189020257	2134019	2547	23472											
TRIML1	339976	broad.mit.edu	37	chr4	189060814	189060814	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	accaccgagtgtgggcacagCttttgtctggtgtgtctcct	5	13	12	11	1	2	0	0	0	2	0	3	1	2	0	3	2	1	2	3	2	0	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:189060814C>A	ENST00000332517.3	+	1	242	c.102C>A	c.(100-102)agC>agA	p.S34R	RP11-366H4.3_ENST00000501322.2_RNA	NM_178556.3	NP_848651.2	Q8N9V2	TRIML_HUMAN	tripartite motif family-like 1	34					multicellular organismal development (GO:0007275)|protein ubiquitination (GO:0016567)		ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(3)|breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	60		all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062)		OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156)		GTGGGCACAGCTTTTGTCTGG	0.522																																					Melanoma(31;213 1036 16579 23968 32372)	ENST00000332517.3																			0				NS(3)|breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	60						c.(100-102)agC>agA		tripartite motif family-like 1							181	180	181					4																	189060814		2203	4300	6503	SO:0001583	missense	339976				multicellular organismal development		ligase activity|zinc ion binding	g.chr4:189060814C>A	AK093499	CCDS3851.1	4q35.2	2013-01-09			ENSG00000184108	ENSG00000184108		"RING-type (C3HC4) zinc fingers"	26698	protein-coding gene	gene with protein product						12477932	Standard	NM_178556		Approved	FLJ36180, RNF209	uc003izm.1	Q8N9V2	OTTHUMG00000160237	ENST00000332517.3:c.102C>A	4.37:g.189060814C>A	ENSP00000327738:p.Ser34Arg						p.S34R	NM_178556.3	NP_848651.2	Q8N9V2	TRIML_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156)	1	242	+		all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062)	34					Q96BE5	Missense_Mutation	SNP	ENST00000332517.3	37	c.102C>A	CCDS3851.1	.	.	.	.	.	.	.	.	.	.	C	18.93	3.728697	0.69074	.	.	ENSG00000184108	ENST00000332517	T	0.08896	3.04	5.59	3.85	0.44370	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type, conserved site (1);Zinc finger, RING-type (2);Zinc finger, C3HC4 RING-type (1);	0.000000	0.64402	D	0.000006	T	0.16769	0.0403	L	0.41710	1.295	0.38623	D	0.951184	D	0.89917	1.0	D	0.80764	0.994	T	0.02214	-1.1194	10	0.87932	D	0	-32.7462	6.9135	0.24347	0.0:0.7398:0.0:0.2602	.	34	Q8N9V2	TRIML_HUMAN	R	34	ENSP00000327738:S34R	ENSP00000327738:S34R	S	+	3	2	TRIML1	189297808	1.000000	0.71417	1.000000	0.80357	0.903000	0.53119	1.064000	0.30579	1.515000	0.48885	0.655000	0.94253	AGC		0.522	TRIML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359813.1	NM_178556		76	115	1	0	1.32003e-40	1	1.48355e-40	76	115					A	189060814	C	A	189060814	3	1	435	1	0	0	0	0	1	0	0	0	16547	796	28	5	104	5	TRIML1	4	189060814	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	40557	189060814	2093462	2548	23473											
SDHA	6389	broad.mit.edu	37	chr5	228319	228319	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtctctgcgatatgataccaGctattttgtggagtattttg	8	17	10	6	1	1	1	0	1	1	0	2	3	1	2	1	1	3	2	1	1	4	8			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:228319G>A	ENST00000264932.6	+	6	756	c.641G>A	c.(640-642)aGc>aAc	p.S214N	SDHA_ENST00000510361.1_Missense_Mutation_p.S166N|SDHA_ENST00000504309.1_Missense_Mutation_p.S214N	NM_004168.2	NP_004159.2	P31040	SDHA_HUMAN	succinate dehydrogenase complex, subunit A, flavoprotein (Fp)	214					cellular metabolic process (GO:0044237)|nervous system development (GO:0007399)|oxidation-reduction process (GO:0055114)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)|succinate metabolic process (GO:0006105)|tricarboxylic acid cycle (GO:0006099)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex II (GO:0005749)|mitochondrion (GO:0005739)	flavin adenine dinucleotide binding (GO:0050660)|succinate dehydrogenase (ubiquinone) activity (GO:0008177)			NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|liver(2)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	40			Epithelial(17;0.0159)|all cancers(22;0.0236)|OV - Ovarian serous cystadenocarcinoma(19;0.0674)|Lung(60;0.113)		Succinic acid(DB00139)	TATGATACCAGCTATTTTGTG	0.438									Familial Paragangliomas																													ENST00000264932.6																			0				NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|liver(2)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	40						c.(640-642)aGc>aAc		succinate dehydrogenase complex, subunit A, flavoprotein (Fp)	Succinic acid(DB00139)						67	69	68					5																	228319		2203	4300	6503	SO:0001583	missense	6389	Familial Paragangliomas	Familial Cancer Database	Hereditary Glomus Tumors, Familial Paragangliomas, Hereditary Paragangliomas, type 1-3: PGL1, PGL2, PGL3, incl. Familial Carotid Body Paraganglioma and Sensorineural Hearing Loss	nervous system development|respiratory electron transport chain|succinate metabolic process|transport|tricarboxylic acid cycle	mitochondrial respiratory chain complex II	electron carrier activity|flavin adenine dinucleotide binding|protein binding|succinate dehydrogenase (ubiquinone) activity	g.chr5:228319G>A	BC001380	CCDS3853.1	5p15	2014-09-17			ENSG00000073578	ENSG00000073578		"Mitochondrial respiratory chain complex / Complex II"	10680	protein-coding gene	gene with protein product		600857		SDH2		7798181	Standard	XM_005248329		Approved	FP, SDHF	uc003jao.4	P31040	OTTHUMG00000090275	ENST00000264932.6:c.641G>A	5.37:g.228319G>A	ENSP00000264932:p.Ser214Asn					SDHA_ENST00000510361.1_Missense_Mutation_p.S166N|SDHA_ENST00000504309.1_Missense_Mutation_p.S214N	p.S214N	NM_004168.2	NP_004159.2	P31040	DHSA_HUMAN	Epithelial(17;0.0159)|all cancers(22;0.0236)|OV - Ovarian serous cystadenocarcinoma(19;0.0674)|Lung(60;0.113)		6	756	+			214					A8K5J6|B4DJ60|E9PBJ5|Q16395|Q59GW8|Q8IW48|Q9UMY5	Missense_Mutation	SNP	ENST00000264932.6	37	c.641G>A	CCDS3853.1	.	.	.	.	.	.	.	.	.	.	g	6.987	0.552261	0.13374	.	.	ENSG00000073578	ENST00000264932;ENST00000504309;ENST00000510361	T;T;T	0.70045	-0.45;-0.45;-0.45	5.23	5.23	0.72850	Fumarate reductase/succinate dehydrogenase flavoprotein, N-terminal (1);	0.051707	0.85682	U	0.000000	T	0.41696	0.1170	N	0.04297	-0.235	0.58432	D	0.999996	B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0	B;B;B;B;B	0.09377	0.004;0.002;0.002;0.001;0.001	T	0.43589	-0.9382	10	0.02654	T	1	.	16.7213	0.85410	0.0:0.0:1.0:0.0	.	166;214;214;214;220	E9PBJ5;B4DYN5;D6RFM5;P31040;Q59GW8	.;.;.;DHSA_HUMAN;.	N	214;214;166	ENSP00000264932:S214N;ENSP00000426514:S214N;ENSP00000427703:S166N	ENSP00000264932:S214N	S	+	2	0	SDHA	281319	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.496000	0.81526	2.633000	0.89246	0.644000	0.83932	AGC		0.438	SDHA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206599.1	NM_004168		19	31	0	0	0	1	0	19	31					A	228319	G	A	228319	3	1	435	1	0	0	0	0	1	0	0	0	13963	971	34	3	663	3	SDHA	5	228319	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08		228319	180686941	2549	23474											
SDHA	6389	broad.mit.edu	37	chr5	233681	233681	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aaggcgaaaggtttatggagCgatacgcccctgtcgcgaag	11	7	14	9	5	0	0	0	0	0	0	1	4	0	1	2	3	2	1	2	3	5	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:233681C>T	ENST00000264932.6	+	8	1100	c.985C>T	c.(985-987)Cga>Tga	p.R329*	SDHA_ENST00000510361.1_Nonsense_Mutation_p.R281*|SDHA_ENST00000504309.1_Nonsense_Mutation_p.R329*	NM_004168.2	NP_004159.2	P31040	SDHA_HUMAN	succinate dehydrogenase complex, subunit A, flavoprotein (Fp)	329					cellular metabolic process (GO:0044237)|nervous system development (GO:0007399)|oxidation-reduction process (GO:0055114)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)|succinate metabolic process (GO:0006105)|tricarboxylic acid cycle (GO:0006099)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex II (GO:0005749)|mitochondrion (GO:0005739)	flavin adenine dinucleotide binding (GO:0050660)|succinate dehydrogenase (ubiquinone) activity (GO:0008177)			NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|liver(2)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	40			Epithelial(17;0.0159)|all cancers(22;0.0236)|OV - Ovarian serous cystadenocarcinoma(19;0.0674)|Lung(60;0.113)		Succinic acid(DB00139)	GTTTATGGAGCGATACGCCCC	0.517									Familial Paragangliomas																													ENST00000264932.6																			0				NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|liver(2)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	40						c.(985-987)Cga>Tga		succinate dehydrogenase complex, subunit A, flavoprotein (Fp)	Succinic acid(DB00139)						175	156	162					5																	233681		2203	4300	6503	SO:0001587	stop_gained	6389	Familial Paragangliomas	Familial Cancer Database	Hereditary Glomus Tumors, Familial Paragangliomas, Hereditary Paragangliomas, type 1-3: PGL1, PGL2, PGL3, incl. Familial Carotid Body Paraganglioma and Sensorineural Hearing Loss	nervous system development|respiratory electron transport chain|succinate metabolic process|transport|tricarboxylic acid cycle	mitochondrial respiratory chain complex II	electron carrier activity|flavin adenine dinucleotide binding|protein binding|succinate dehydrogenase (ubiquinone) activity	g.chr5:233681C>T	BC001380	CCDS3853.1	5p15	2014-09-17			ENSG00000073578	ENSG00000073578		"Mitochondrial respiratory chain complex / Complex II"	10680	protein-coding gene	gene with protein product		600857		SDH2		7798181	Standard	XM_005248329		Approved	FP, SDHF	uc003jao.4	P31040	OTTHUMG00000090275	ENST00000264932.6:c.985C>T	5.37:g.233681C>T	ENSP00000264932:p.Arg329*					SDHA_ENST00000510361.1_Nonsense_Mutation_p.R281*|SDHA_ENST00000504309.1_Nonsense_Mutation_p.R329*	p.R329*	NM_004168.2	NP_004159.2	P31040	DHSA_HUMAN	Epithelial(17;0.0159)|all cancers(22;0.0236)|OV - Ovarian serous cystadenocarcinoma(19;0.0674)|Lung(60;0.113)		8	1100	+			329					A8K5J6|B4DJ60|E9PBJ5|Q16395|Q59GW8|Q8IW48|Q9UMY5	Nonsense_Mutation	SNP	ENST00000264932.6	37	c.985C>T	CCDS3853.1	.	.	.	.	.	.	.	.	.	.	N	36	5.943823	0.97128	.	.	ENSG00000073578	ENST00000264932;ENST00000327872;ENST00000504309;ENST00000510361	.	.	.	4.51	2.29	0.28610	.	0.000000	0.85682	U	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.3943	0.44192	0.715:0.285:0.0:0.0	.	.	.	.	X	329;184;329;281	.	ENSP00000264932:R329X	R	+	1	2	SDHA	286681	1.000000	0.71417	0.972000	0.41901	0.887000	0.51463	2.596000	0.46205	0.282000	0.22254	0.650000	0.86243	CGA		0.517	SDHA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206599.1	NM_004168		52	69	0	0	0	1	0	52	69					T	233681	C	T	233681	4	4	435	1	0	0	0	0	0	1	0	0	13963	760	27	1	1015	1	SDHA	5	233681	Nonsense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	5362	233681	180681579	2550	23475											
AHRR	57491	broad.mit.edu	37	chr5	424017	424017	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tggggcacaggcacgcccacCgagtactcggccttcctgac	7	6	12	16	3	0	1	0	1	0	0	2	2	1	1	4	4	1	3	4	4	1	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:424017C>T	ENST00000505113.1	+	7	689	c.645C>T	c.(643-645)acC>acT	p.T215T	AHRR_ENST00000316418.5_Silent_p.T215T|AHRR_ENST00000506456.1_Silent_p.T71T|AHRR_ENST00000512529.1_Silent_p.T61T	NM_001242412.1	NP_001229341.1	A9YTQ3	AHRR_HUMAN	aryl-hydrocarbon receptor repressor	215					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of protein sumoylation (GO:0033235)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|signal transducer activity (GO:0004871)			breast(2)|endometrium(4)|large_intestine(1)|lung(12)|prostate(1)	20			Epithelial(17;0.0011)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00354)|Lung(60;0.0863)			GCACGCCCACCGAGTACTCGG	0.677																																						ENST00000316418.5																			0				breast(2)|endometrium(4)|large_intestine(1)|lung(12)|prostate(1)	20						c.(643-645)acC>acT		aryl-hydrocarbon receptor repressor							45	55	51					5																	424017		2067	4196	6263	SO:0001819	synonymous_variant	57491				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity	g.chr5:424017C>T	AB033060	CCDS43297.1, CCDS56355.1	5p15.33	2013-05-21	2003-09-11	2003-09-12	ENSG00000063438	ENSG00000063438		"Basic helix-loop-helix proteins"	346	protein-coding gene	gene with protein product		606517	"aryl hydrocarbon receptor regulator"	AHH, AHHR		1070014, 11423533	Standard	NM_020731		Approved	KIAA1234, bHLHe77	uc003jaw.3	A9YTQ3	OTTHUMG00000162171	ENST00000505113.1:c.645C>T	5.37:g.424017C>T						AHRR_ENST00000512529.1_Silent_p.T61T|AHRR_ENST00000506456.1_Silent_p.T71T|AHRR_ENST00000505113.1_Silent_p.T215T	p.T215T	NM_020731.4	NP_065782.2	A9YTQ3	AHRR_HUMAN	Epithelial(17;0.0011)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00354)|Lung(60;0.0863)		7	689	+			215					A7MBN5|D6RAZ1|Q9HAZ3|Q9ULI6	Silent	SNP	ENST00000505113.1	37	c.645C>T	CCDS56355.1																																																																																				0.677	AHRR-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000367720.1	NM_020731		20	25	0	0	0	1	0	20	25					T	424017	C	T	424017	2	4	435	1	0	0	0	0	0	0	0	1	417	639	23	2		2	AHRR	5	424017	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	190336	424017	180491243	2551	23476											
EXOC3	11336	broad.mit.edu	37	chr5	447679	447679	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtcacagttggacggggtgcGcacaggcctcagccagctcc	7	6	14	14	2	2	0	2	0	0	0	3	1	3	1	3	4	3	3	3	4	0	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:447679G>A	ENST00000512944.1	+	3	365	c.176G>A	c.(175-177)cGc>cAc	p.R59H	EXOC3_ENST00000315013.5_Missense_Mutation_p.R59H	NM_007277.4	NP_009208.2	O60645	EXOC3_HUMAN	exocyst complex component 3	70					cellular protein metabolic process (GO:0044267)|exocytosis (GO:0006887)|membrane organization (GO:0061024)|protein transport (GO:0015031)	exocyst (GO:0000145)|secretory granule membrane (GO:0030667)				breast(2)|cervix(1)|endometrium(4)|large_intestine(1)|lung(13)|ovary(1)|urinary_tract(1)	23		Ovarian(839;0.0563)	Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)			GACGGGGTGCGCACAGGCCTC	0.587																																						ENST00000512944.1																			0				breast(2)|cervix(1)|endometrium(4)|large_intestine(1)|lung(13)|ovary(1)|urinary_tract(1)	23						c.(175-177)cGc>cAc		exocyst complex component 3							23	27	26					5																	447679		2188	4279	6467	SO:0001583	missense	11336				exocytosis|protein transport			g.chr5:447679G>A	BC034427	CCDS54830.1	5p15.33	2013-01-22	2005-11-01	2005-11-01	ENSG00000180104	ENSG00000180104			30378	protein-coding gene	gene with protein product		608186	"SEC6-like 1 (S. cerevisiae)"	SEC6L1		8619474	Standard	XM_005248238		Approved	Sec6p	uc003jba.3	O60645	OTTHUMG00000162205	ENST00000512944.1:c.176G>A	5.37:g.447679G>A	ENSP00000425587:p.Arg59His					EXOC3_ENST00000315013.5_Missense_Mutation_p.R59H	p.R59H	NM_007277.4	NP_009208.2	O60645	EXOC3_HUMAN	Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)		3	365	+		Ovarian(839;0.0563)	70					Q6P2E8|Q8TEN6|Q8WUW0|Q96DI4	Missense_Mutation	SNP	ENST00000512944.1	37	c.176G>A	CCDS54830.1	.	.	.	.	.	.	.	.	.	.	G	28.7	4.945596	0.92593	.	.	ENSG00000180104	ENST00000512944;ENST00000508022;ENST00000315013;ENST00000340158	T;T	0.09911	2.93;2.93	5.36	5.36	0.76844	.	0.000000	0.85682	D	0.000000	T	0.28599	0.0708	L	0.60455	1.87	0.80722	D	1	D	0.76494	0.999	D	0.66602	0.945	T	0.00160	-1.1973	10	0.44086	T	0.13	-20.2465	16.9484	0.86236	0.0:0.0:1.0:0.0	.	70	O60645	EXOC3_HUMAN	H	59;59;59;69	ENSP00000425587:R59H;ENSP00000323377:R59H	ENSP00000323377:R59H	R	+	2	0	EXOC3	500679	1.000000	0.71417	1.000000	0.80357	0.732000	0.41865	9.456000	0.97628	2.665000	0.90641	0.655000	0.94253	CGC		0.587	EXOC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367882.1	NM_007277		4	4	0	0	0	1	0	4	4					A	447679	G	A	447679	3	1	435	1	0	0	0	0	1	0	0	0	5303	1087	38	1	182	1	EXOC3	5	447679	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	23662	447679	180467581	2552	23477											
EXOC3	11336	broad.mit.edu	37	chr5	457049	457049	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctggccccggaagtggatgtCggcaccctggagccattgct	6	8	14	13	2	0	0	0	0	0	0	1	3	0	3	4	5	2	2	4	5	1	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:457049C>T	ENST00000512944.1	+	5	1281	c.1092C>T	c.(1090-1092)gtC>gtT	p.V364V	EXOC3_ENST00000315013.5_Silent_p.V364V	NM_007277.4	NP_009208.2	O60645	EXOC3_HUMAN	exocyst complex component 3	375					cellular protein metabolic process (GO:0044267)|exocytosis (GO:0006887)|membrane organization (GO:0061024)|protein transport (GO:0015031)	exocyst (GO:0000145)|secretory granule membrane (GO:0030667)				breast(2)|cervix(1)|endometrium(4)|large_intestine(1)|lung(13)|ovary(1)|urinary_tract(1)	23		Ovarian(839;0.0563)	Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)			AAGTGGATGTCGGCACCCTGG	0.567																																						ENST00000512944.1																			0				breast(2)|cervix(1)|endometrium(4)|large_intestine(1)|lung(13)|ovary(1)|urinary_tract(1)	23						c.(1090-1092)gtC>gtT		exocyst complex component 3							97	103	101					5																	457049		2122	4236	6358	SO:0001819	synonymous_variant	11336				exocytosis|protein transport			g.chr5:457049C>T	BC034427	CCDS54830.1	5p15.33	2013-01-22	2005-11-01	2005-11-01	ENSG00000180104	ENSG00000180104			30378	protein-coding gene	gene with protein product		608186	"SEC6-like 1 (S. cerevisiae)"	SEC6L1		8619474	Standard	XM_005248238		Approved	Sec6p	uc003jba.3	O60645	OTTHUMG00000162205	ENST00000512944.1:c.1092C>T	5.37:g.457049C>T						EXOC3_ENST00000315013.5_Silent_p.V364V	p.V364V	NM_007277.4	NP_009208.2	O60645	EXOC3_HUMAN	Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)		5	1281	+		Ovarian(839;0.0563)	375					Q6P2E8|Q8TEN6|Q8WUW0|Q96DI4	Silent	SNP	ENST00000512944.1	37	c.1092C>T	CCDS54830.1																																																																																				0.567	EXOC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367882.1	NM_007277		11	18	0	0	0	1	0	11	18					T	457049	C	T	457049	2	4	435	1	0	0	0	0	0	0	0	1	5303	871	31	2		2	EXOC3	5	457049	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	9370	457049	180458211	2553	23478											
EXOC3	11336	broad.mit.edu	37	chr5	458033	458033	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtcaaacatcatcgcctggCtgcggaaagcgctggagaca	12	6	12	11	3	2	1	2	0	0	1	3	3	2	2	1	3	3	2	1	3	2	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:458033C>A	ENST00000512944.1	+	6	1372	c.1183C>A	c.(1183-1185)Ctg>Atg	p.L395M	EXOC3_ENST00000315013.5_Missense_Mutation_p.L395M	NM_007277.4	NP_009208.2	O60645	EXOC3_HUMAN	exocyst complex component 3	406					cellular protein metabolic process (GO:0044267)|exocytosis (GO:0006887)|membrane organization (GO:0061024)|protein transport (GO:0015031)	exocyst (GO:0000145)|secretory granule membrane (GO:0030667)				breast(2)|cervix(1)|endometrium(4)|large_intestine(1)|lung(13)|ovary(1)|urinary_tract(1)	23		Ovarian(839;0.0563)	Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)			CATCGCCTGGCTGCGGAAAGC	0.522																																						ENST00000512944.1																			0				breast(2)|cervix(1)|endometrium(4)|large_intestine(1)|lung(13)|ovary(1)|urinary_tract(1)	23						c.(1183-1185)Ctg>Atg		exocyst complex component 3							38	42	41					5																	458033		1981	4172	6153	SO:0001583	missense	11336				exocytosis|protein transport			g.chr5:458033C>A	BC034427	CCDS54830.1	5p15.33	2013-01-22	2005-11-01	2005-11-01	ENSG00000180104	ENSG00000180104			30378	protein-coding gene	gene with protein product		608186	"SEC6-like 1 (S. cerevisiae)"	SEC6L1		8619474	Standard	XM_005248238		Approved	Sec6p	uc003jba.3	O60645	OTTHUMG00000162205	ENST00000512944.1:c.1183C>A	5.37:g.458033C>A	ENSP00000425587:p.Leu395Met					EXOC3_ENST00000315013.5_Missense_Mutation_p.L395M	p.L395M	NM_007277.4	NP_009208.2	O60645	EXOC3_HUMAN	Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)		6	1372	+		Ovarian(839;0.0563)	406					Q6P2E8|Q8TEN6|Q8WUW0|Q96DI4	Missense_Mutation	SNP	ENST00000512944.1	37	c.1183C>A	CCDS54830.1	.	.	.	.	.	.	.	.	.	.	C	12.87	2.066550	0.36470	.	.	ENSG00000180104	ENST00000512944;ENST00000315013	T;T	0.06449	3.3;3.3	5.76	2.06	0.26882	.	0.000000	0.85682	D	0.000000	T	0.08670	0.0215	L	0.41492	1.28	0.80722	D	1	P	0.36438	0.553	P	0.49637	0.617	T	0.32745	-0.9895	10	0.08179	T	0.78	-23.5565	7.9202	0.29841	0.0:0.5974:0.0:0.4026	.	406	O60645	EXOC3_HUMAN	M	395	ENSP00000425587:L395M;ENSP00000323377:L395M	ENSP00000323377:L395M	L	+	1	2	EXOC3	511033	1.000000	0.71417	0.999000	0.59377	0.985000	0.73830	1.299000	0.33424	0.101000	0.17610	0.609000	0.83330	CTG		0.522	EXOC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367882.1	NM_007277		9	5	1	0	3.09899e-07	1	3.24337e-07	9	5					A	458033	C	A	458033	3	1	435	1	0	0	0	0	1	0	0	0	5303	796	28	5	1201	5	EXOC3	5	458033	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	984	458033	180457227	2554	23479											
EXOC3	11336	broad.mit.edu	37	chr5	464517	464517	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttgccaaaattaaaaagcCgtataagaaggtaagaaggt	18	10	9	4	1	0	2	0	0	0	2	0	2	0	2	2	2	2	2	2	2	10	6			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:464517C>T	ENST00000512944.1	+	10	1955	c.1766C>T	c.(1765-1767)cCg>cTg	p.P589L	EXOC3_ENST00000315013.5_Missense_Mutation_p.P589L|CTD-2228K2.5_ENST00000510714.1_5'Flank	NM_007277.4	NP_009208.2	O60645	EXOC3_HUMAN	exocyst complex component 3	600					cellular protein metabolic process (GO:0044267)|exocytosis (GO:0006887)|membrane organization (GO:0061024)|protein transport (GO:0015031)	exocyst (GO:0000145)|secretory granule membrane (GO:0030667)				breast(2)|cervix(1)|endometrium(4)|large_intestine(1)|lung(13)|ovary(1)|urinary_tract(1)	23		Ovarian(839;0.0563)	Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)			ATTAAAAAGCCGTATAAGAAG	0.468																																						ENST00000512944.1																			0				breast(2)|cervix(1)|endometrium(4)|large_intestine(1)|lung(13)|ovary(1)|urinary_tract(1)	23						c.(1765-1767)cCg>cTg		exocyst complex component 3							133	135	135					5																	464517		1977	4144	6121	SO:0001583	missense	11336				exocytosis|protein transport			g.chr5:464517C>T	BC034427	CCDS54830.1	5p15.33	2013-01-22	2005-11-01	2005-11-01	ENSG00000180104	ENSG00000180104			30378	protein-coding gene	gene with protein product		608186	"SEC6-like 1 (S. cerevisiae)"	SEC6L1		8619474	Standard	XM_005248238		Approved	Sec6p	uc003jba.3	O60645	OTTHUMG00000162205	ENST00000512944.1:c.1766C>T	5.37:g.464517C>T	ENSP00000425587:p.Pro589Leu					EXOC3_ENST00000315013.5_Missense_Mutation_p.P589L	p.P589L	NM_007277.4	NP_009208.2	O60645	EXOC3_HUMAN	Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)		10	1955	+		Ovarian(839;0.0563)	600					Q6P2E8|Q8TEN6|Q8WUW0|Q96DI4	Missense_Mutation	SNP	ENST00000512944.1	37	c.1766C>T	CCDS54830.1	.	.	.	.	.	.	.	.	.	.	C	9.453	1.091022	0.20471	.	.	ENSG00000180104	ENST00000512944;ENST00000315013;ENST00000340158	T;T	0.07327	3.2;3.2	4.92	4.05	0.47172	.	0.054407	0.85682	D	0.000000	T	0.11153	0.0272	M	0.77313	2.365	0.80722	D	1	B	0.06786	0.001	B	0.10450	0.005	T	0.05354	-1.0890	10	0.30854	T	0.27	-17.952	6.7732	0.23604	0.1735:0.7354:0.0:0.0911	.	600	O60645	EXOC3_HUMAN	L	589;589;484	ENSP00000425587:P589L;ENSP00000323377:P589L	ENSP00000323377:P589L	P	+	2	0	EXOC3	517517	0.999000	0.42202	0.933000	0.37362	0.249000	0.25844	4.111000	0.57838	1.213000	0.43380	-0.137000	0.14449	CCG		0.468	EXOC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367882.1	NM_007277		12	38	0	0	0	1	0	12	38					T	464517	C	T	464517	3	4	435	1	0	0	0	0	1	0	0	0	5303	652	23	2	1800	2	EXOC3	5	464517	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	6484	464517	180450743	2555	23480											
EXOC3	11336	broad.mit.edu	37	chr5	466873	466873	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcggtgcgctgctggctgtgCgtggggacgccagccgtgac	3	8	18	12	5	0	1	0	1	0	0	1	2	0	2	2	4	4	3	2	4	0	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:466873C>T	ENST00000512944.1	+	13	2287	c.2098C>T	c.(2098-2100)Cgt>Tgt	p.R700C	EXOC3_ENST00000315013.5_Missense_Mutation_p.R700C|CTD-2228K2.5_ENST00000510714.1_Intron	NM_007277.4	NP_009208.2	O60645	EXOC3_HUMAN	exocyst complex component 3	711					cellular protein metabolic process (GO:0044267)|exocytosis (GO:0006887)|membrane organization (GO:0061024)|protein transport (GO:0015031)	exocyst (GO:0000145)|secretory granule membrane (GO:0030667)				breast(2)|cervix(1)|endometrium(4)|large_intestine(1)|lung(13)|ovary(1)|urinary_tract(1)	23		Ovarian(839;0.0563)	Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)			GCTGGCTGTGCGTGGGGACGC	0.642																																						ENST00000512944.1																			0				breast(2)|cervix(1)|endometrium(4)|large_intestine(1)|lung(13)|ovary(1)|urinary_tract(1)	23						c.(2098-2100)Cgt>Tgt		exocyst complex component 3							36	44	42					5																	466873		2194	4287	6481	SO:0001583	missense	11336				exocytosis|protein transport			g.chr5:466873C>T	BC034427	CCDS54830.1	5p15.33	2013-01-22	2005-11-01	2005-11-01	ENSG00000180104	ENSG00000180104			30378	protein-coding gene	gene with protein product		608186	"SEC6-like 1 (S. cerevisiae)"	SEC6L1		8619474	Standard	XM_005248238		Approved	Sec6p	uc003jba.3	O60645	OTTHUMG00000162205	ENST00000512944.1:c.2098C>T	5.37:g.466873C>T	ENSP00000425587:p.Arg700Cys					EXOC3_ENST00000315013.5_Missense_Mutation_p.R700C|CTD-2228K2.5_ENST00000510714.1_Intron	p.R700C	NM_007277.4	NP_009208.2	O60645	EXOC3_HUMAN	Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)		13	2287	+		Ovarian(839;0.0563)	711					Q6P2E8|Q8TEN6|Q8WUW0|Q96DI4	Missense_Mutation	SNP	ENST00000512944.1	37	c.2098C>T	CCDS54830.1	.	.	.	.	.	.	.	.	.	.	C	14.29	2.489812	0.44249	.	.	ENSG00000180104	ENST00000512944;ENST00000315013;ENST00000340158	T;T	0.29397	1.57;1.57	5.25	4.3	0.51218	.	0.000000	0.85682	D	0.000000	T	0.55162	0.1903	M	0.84219	2.685	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.59852	-0.7376	10	0.87932	D	0	-9.1337	9.8061	0.40795	0.3443:0.6557:0.0:0.0	.	711	O60645	EXOC3_HUMAN	C	700;700;595	ENSP00000425587:R700C;ENSP00000323377:R700C	ENSP00000323377:R700C	R	+	1	0	EXOC3	519873	0.999000	0.42202	0.215000	0.23724	0.290000	0.27261	1.412000	0.34714	2.471000	0.83476	0.305000	0.20034	CGT		0.642	EXOC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367882.1	NM_007277		6	12	0	0	0	1	0	6	12					T	466873	C	T	466873	3	4	435	1	0	0	0	0	1	0	0	0	5303	768	27	1	2144	1	EXOC3	5	466873	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	2356	466873	180448387	2556	23481											
CEP72	55722	broad.mit.edu	37	chr5	620335	620335	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaggttgagcctgactaccGcctttttgttgtgcacctgc	6	13	11	11	1	0	2	0	2	0	0	0	3	0	2	4	1	4	3	4	1	2	5	rs542279058		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:620335G>A	ENST00000264935.5	+	3	452	c.362G>A	c.(361-363)cGc>cAc	p.R121H	CEP72_ENST00000444221.1_Missense_Mutation_p.R121H	NM_018140.3	NP_060610.2	Q9P209	CEP72_HUMAN	centrosomal protein 72kDa	121	LRRCT.				G2/M transition of mitotic cell cycle (GO:0000086)|gamma-tubulin complex localization (GO:0033566)|mitotic cell cycle (GO:0000278)|spindle organization (GO:0007051)	centrosome (GO:0005813)|cytosol (GO:0005829)				autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(5)|ovary(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2)	20			Epithelial(17;0.000339)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|Lung(60;0.0863)			CCTGACTACCGCCTTTTTGTT	0.602													G|||	1	0.000199681	8e-04	0	5008	,	,		20813	0		0	False		,,,				2504	0					ENST00000264935.5																			0				autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(5)|ovary(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2)	20						c.(361-363)cGc>cAc		centrosomal protein 72kDa							117	101	106					5																	620335		2203	4300	6503	SO:0001583	missense	55722				G2/M transition of mitotic cell cycle|gamma-tubulin complex localization|spindle organization	centrosome|cytosol		g.chr5:620335G>A	BC000132	CCDS34126.1	5p15.33	2014-02-20			ENSG00000112877	ENSG00000112877			25547	protein-coding gene	gene with protein product						10819331	Standard	NM_018140		Approved	KIAA1519, FLJ10565	uc003jbf.3	Q9P209	OTTHUMG00000161745	ENST00000264935.5:c.362G>A	5.37:g.620335G>A	ENSP00000264935:p.Arg121His					CEP72_ENST00000444221.1_Missense_Mutation_p.R121H	p.R121H	NM_018140.3	NP_060610.2	Q9P209	CEP72_HUMAN	Epithelial(17;0.000339)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|Lung(60;0.0863)		3	452	+			121			LRRCT.		B4DR26|Q9BV03|Q9BWM3|Q9NVR4	Missense_Mutation	SNP	ENST00000264935.5	37	c.362G>A	CCDS34126.1	.	.	.	.	.	.	.	.	.	.	G	18.74	3.689342	0.68271	.	.	ENSG00000112877	ENST00000264935;ENST00000444221	T;T	0.31247	1.5;1.5	4.81	4.81	0.61882	U2A&apos (1);/phosphoprotein 32 family A, C-terminal (1);	0.063358	0.64402	D	0.000003	T	0.69672	0.3137	H	0.97682	4.055	0.52099	D	0.99994	D	0.89917	1.0	D	0.85130	0.997	T	0.81638	-0.0842	10	0.87932	D	0	-30.8591	15.1567	0.72749	0.0:0.0:1.0:0.0	.	121	Q9P209	CEP72_HUMAN	H	121	ENSP00000264935:R121H;ENSP00000392052:R121H	ENSP00000264935:R121H	R	+	2	0	CEP72	673335	1.000000	0.71417	0.999000	0.59377	0.216000	0.24613	6.539000	0.73856	2.347000	0.79759	0.462000	0.41574	CGC		0.602	CEP72-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000365967.3	NM_018140		27	31	0	0	0	1	0	27	31					A	620335	G	A	620335	3	1	435	1	0	0	0	0	1	0	0	0	3260	1087	38	1	372	1	CEP72	5	620335	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	153462	620335	180294925	2557	23482											
SLC12A7	10723	broad.mit.edu	37	chr5	1053571	1053571	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cattgagcttcacagccgtgTgcatccgcctgacgttggac	7	10	11	13	3	1	2	1	2	0	0	2	3	2	3	3	1	3	3	3	1	0	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:1053571T>C	ENST00000264930.5	-	23	3096	c.3053A>G	c.(3052-3054)cAc>cGc	p.H1018R		NM_006598.2	NP_006589.2	Q9Y666	S12A7_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 7	1018					cell volume homeostasis (GO:0006884)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|potassium ion transport (GO:0006813)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	32	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09)		Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165)		Potassium Chloride(DB00761)	CACAGCCGTGTGCATCCGCCT	0.662																																						ENST00000264930.5																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	32						c.(3052-3054)cAc>cGc		solute carrier family 12 (potassium/chloride transporter), member 7	Potassium Chloride(DB00761)						128	104	112					5																	1053571		2203	4299	6502	SO:0001583	missense	10723				potassium ion transport|sodium ion transport	integral to plasma membrane	potassium:chloride symporter activity	g.chr5:1053571T>C	AF105365	CCDS34129.1	5p15	2013-07-18	2013-07-18		ENSG00000113504	ENSG00000113504		"Solute carriers"	10915	protein-coding gene	gene with protein product		604879				10347194	Standard	NM_006598		Approved	KCC4, DKFZP434F076	uc003jbu.3	Q9Y666	OTTHUMG00000161931	ENST00000264930.5:c.3053A>G	5.37:g.1053571T>C	ENSP00000264930:p.His1018Arg						p.H1018R	NM_006598.2	NP_006589.2	Q9Y666	S12A7_HUMAN	Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165)		23	3096	-	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09)		1018					A6NDS8|Q4G0F3|Q96I81|Q9H7I3|Q9H7I7|Q9UFW2	Missense_Mutation	SNP	ENST00000264930.5	37	c.3053A>G	CCDS34129.1	.	.	.	.	.	.	.	.	.	.	T	19.52	3.843126	0.71488	.	.	ENSG00000113504	ENST00000264930	T	0.49432	0.78	3.88	3.88	0.44766	.	0.000000	0.85682	D	0.000000	T	0.49830	0.1580	M	0.82716	2.605	0.80722	D	1	B	0.28439	0.212	B	0.25614	0.062	T	0.57335	-0.7829	10	0.72032	D	0.01	.	10.9162	0.47137	0.0:0.0:0.0:1.0	.	1018	Q9Y666	S12A7_HUMAN	R	1018	ENSP00000264930:H1018R	ENSP00000264930:H1018R	H	-	2	0	SLC12A7	1106571	1.000000	0.71417	1.000000	0.80357	0.745000	0.42441	6.747000	0.74872	1.535000	0.49220	0.402000	0.26972	CAC		0.662	SLC12A7-001	KNOWN	non_canonical_TEC|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366446.2	NM_006598		13	14	0	0	0	1	0	13	14					C	1053571	T	C	1053571	3	2	435	1	0	0	0	0	1	0	0	0	14388	1696	59	4	206	4	SLC12A7	5	1053571	Missense_Mutation	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	433236	1053571	179861689	2558	23483											
SLC12A7	10723	broad.mit.edu	37	chr5	1083909	1083909	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atgccctggatttcggtgacGttgttctggatgaagtactc	7	14	12	8	2	1	2	0	2	1	0	3	4	1	4	1	3	2	3	1	3	2	4	rs371943826		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:1083909G>A	ENST00000264930.5	-	8	1123	c.1080C>T	c.(1078-1080)aaC>aaT	p.N360N		NM_006598.2	NP_006589.2	Q9Y666	S12A7_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 7	360					cell volume homeostasis (GO:0006884)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|potassium ion transport (GO:0006813)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	32	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09)		Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165)		Potassium Chloride(DB00761)	TTTCGGTGACGTTGTTCTGGA	0.667													G|||	1	0.000199681	0	0.0014	5008	,	,		15878	0		0	False		,,,				2504	0					ENST00000264930.5																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	32						c.(1078-1080)aaC>aaT		solute carrier family 12 (potassium/chloride transporter), member 7	Potassium Chloride(DB00761)	G		1,4399	2.1+/-5.4	0,1,2199	78	76	77		1080	1.7	1	5		77	0,8598		0,0,4299	no	coding-synonymous	SLC12A7	NM_006598.2		0,1,6498	AA,AG,GG		0.0,0.0227,0.0077		360/1084	1083909	1,12997	2200	4299	6499	SO:0001819	synonymous_variant	10723				potassium ion transport|sodium ion transport	integral to plasma membrane	potassium:chloride symporter activity	g.chr5:1083909G>A	AF105365	CCDS34129.1	5p15	2013-07-18	2013-07-18		ENSG00000113504	ENSG00000113504		"Solute carriers"	10915	protein-coding gene	gene with protein product		604879				10347194	Standard	NM_006598		Approved	KCC4, DKFZP434F076	uc003jbu.3	Q9Y666	OTTHUMG00000161931	ENST00000264930.5:c.1080C>T	5.37:g.1083909G>A							p.N360N	NM_006598.2	NP_006589.2	Q9Y666	S12A7_HUMAN	Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165)		8	1123	-	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09)		360					A6NDS8|Q4G0F3|Q96I81|Q9H7I3|Q9H7I7|Q9UFW2	Silent	SNP	ENST00000264930.5	37	c.1080C>T	CCDS34129.1																																																																																				0.667	SLC12A7-001	KNOWN	non_canonical_TEC|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366446.2	NM_006598		9	24	0	0	0	1	0	9	24					A	1083909	G	A	1083909	2	1	435	1	0	0	0	0	0	0	0	1	14388	1136	40	1		1	SLC12A7	5	1083909	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	30338	1083909	179831351	2559	23484											
SLC6A19	340024	broad.mit.edu	37	chr5	1201802	1201802	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcccaaccccggcctagacGcccggatcccgtccctggct	5	6	10	20	4	0	1	0	0	0	1	2	2	2	2	7	3	2	1	7	3	2	1	rs200291939		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:1201802G>A	ENST00000304460.10	+	1	93	c.37G>A	c.(37-39)Gcc>Acc	p.A13T		NM_001003841.2	NP_001003841.1	Q695T7	S6A19_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 19	13					amino acid transport (GO:0006865)|ion transport (GO:0006811)|response to nutrient (GO:0007584)|transmembrane transport (GO:0055085)	brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neurotransmitter:sodium symporter activity (GO:0005328)|neutral amino acid transmembrane transporter activity (GO:0015175)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(25)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	all_cancers(3;3.55e-15)|Lung NSC(6;2.89e-14)|all_lung(6;2.2e-13)|all_epithelial(6;3.75e-10)		Epithelial(17;0.000356)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			CGGCCTAGACGCCCGGATCCC	0.682													G|||	1	0.000199681	0	0	5008	,	,		12336	0		0	False		,,,				2504	0.001					ENST00000304460.10																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(25)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	44						c.(37-39)Gcc>Acc		solute carrier family 6 (neutral amino acid transporter), member 19							31	31	31					5																	1201802		2194	4299	6493	SO:0001583	missense	340024				cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity	g.chr5:1201802G>A	AK096054	CCDS34130.1	5p15	2013-07-19			ENSG00000174358	ENSG00000174358		"Solute carriers"	27960	protein-coding gene	gene with protein product	"Hartnup disease"	608893					Standard	NM_001003841		Approved		uc003jbw.4	Q695T7	OTTHUMG00000161636	ENST00000304460.10:c.37G>A	5.37:g.1201802G>A	ENSP00000305302:p.Ala13Thr						p.A13T	NM_001003841.2	NP_001003841.1	Q695T7	S6A19_HUMAN	Epithelial(17;0.000356)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)		1	93	+	all_cancers(3;3.55e-15)|Lung NSC(6;2.89e-14)|all_lung(6;2.2e-13)|all_epithelial(6;3.75e-10)		13					A8K446	Missense_Mutation	SNP	ENST00000304460.10	37	c.37G>A	CCDS34130.1	.	.	.	.	.	.	.	.	.	.	G	1.385	-0.582352	0.03827	.	.	ENSG00000174358	ENST00000304460	T	0.74002	-0.8	4.03	0.967	0.19674	.	0.600804	0.17869	N	0.159232	T	0.44307	0.1287	N	0.14661	0.345	0.09310	N	1	B	0.31413	0.322	B	0.18871	0.023	T	0.15780	-1.0425	10	0.16420	T	0.52	.	1.8582	0.03183	0.2512:0.1449:0.4561:0.1477	.	13	Q695T7	S6A19_HUMAN	T	13	ENSP00000305302:A13T	ENSP00000305302:A13T	A	+	1	0	SLC6A19	1254802	0.354000	0.24912	0.580000	0.28601	0.004000	0.04260	0.364000	0.20325	0.377000	0.24735	-1.446000	0.01064	GCC		0.682	SLC6A19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365557.1	XM_291120		5	7	0	0	0	1	0	5	7					A	1201802	G	A	1201802	3	1	435	1	0	0	0	0	1	0	0	0	14682	1087	38	1	39	1	SLC6A19	5	1201802	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	117893	1201802	179713458	2560	23485											
SLC6A19	340024	broad.mit.edu	37	chr5	1213643	1213643	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttcctcatccgaggcctgacGctgaagggcgccaccaatgg	8	7	12	14	3	1	2	1	2	0	0	3	3	3	2	5	3	0	1	5	3	2	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:1213643G>A	ENST00000304460.10	+	5	785	c.729G>A	c.(727-729)acG>acA	p.T243T		NM_001003841.2	NP_001003841.1	Q695T7	S6A19_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 19	243					amino acid transport (GO:0006865)|ion transport (GO:0006811)|response to nutrient (GO:0007584)|transmembrane transport (GO:0055085)	brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neurotransmitter:sodium symporter activity (GO:0005328)|neutral amino acid transmembrane transporter activity (GO:0015175)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(25)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	all_cancers(3;3.55e-15)|Lung NSC(6;2.89e-14)|all_lung(6;2.2e-13)|all_epithelial(6;3.75e-10)		Epithelial(17;0.000356)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			GAGGCCTGACGCTGAAGGGCG	0.662																																						ENST00000304460.10																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(25)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	44						c.(727-729)acG>acA		solute carrier family 6 (neutral amino acid transporter), member 19							118	77	91					5																	1213643		2203	4300	6503	SO:0001819	synonymous_variant	340024				cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity	g.chr5:1213643G>A	AK096054	CCDS34130.1	5p15	2013-07-19			ENSG00000174358	ENSG00000174358		"Solute carriers"	27960	protein-coding gene	gene with protein product	"Hartnup disease"	608893					Standard	NM_001003841		Approved		uc003jbw.4	Q695T7	OTTHUMG00000161636	ENST00000304460.10:c.729G>A	5.37:g.1213643G>A							p.T243T	NM_001003841.2	NP_001003841.1	Q695T7	S6A19_HUMAN	Epithelial(17;0.000356)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)		5	785	+	all_cancers(3;3.55e-15)|Lung NSC(6;2.89e-14)|all_lung(6;2.2e-13)|all_epithelial(6;3.75e-10)		243					A8K446	Silent	SNP	ENST00000304460.10	37	c.729G>A	CCDS34130.1																																																																																				0.662	SLC6A19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365557.1	XM_291120		11	15	0	0	0	1	0	11	15					A	1213643	G	A	1213643	2	1	435	1	0	0	0	0	0	0	0	1	14682	1074	38	1		1	SLC6A19	5	1213643	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	11841	1213643	179701617	2561	23486											
SLC6A19	340024	broad.mit.edu	37	chr5	1216688	1216688	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgcagcaacaactgcgagaaGgactcggtgattgtgtccat	11	9	12	9	2	0	2	0	1	0	1	2	4	1	3	1	2	5	2	1	2	3	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:1216688G>T	ENST00000304460.10	+	7	959	c.903G>T	c.(901-903)aaG>aaT	p.K301N		NM_001003841.2	NP_001003841.1	Q695T7	S6A19_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 19	301					amino acid transport (GO:0006865)|ion transport (GO:0006811)|response to nutrient (GO:0007584)|transmembrane transport (GO:0055085)	brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neurotransmitter:sodium symporter activity (GO:0005328)|neutral amino acid transmembrane transporter activity (GO:0015175)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(25)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	all_cancers(3;3.55e-15)|Lung NSC(6;2.89e-14)|all_lung(6;2.2e-13)|all_epithelial(6;3.75e-10)		Epithelial(17;0.000356)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			ACTGCGAGAAGGACTCGGTGA	0.607																																						ENST00000304460.10																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(25)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	44						c.(901-903)aaG>aaT		solute carrier family 6 (neutral amino acid transporter), member 19							282	201	228					5																	1216688		2203	4300	6503	SO:0001583	missense	340024				cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity	g.chr5:1216688G>T	AK096054	CCDS34130.1	5p15	2013-07-19			ENSG00000174358	ENSG00000174358		"Solute carriers"	27960	protein-coding gene	gene with protein product	"Hartnup disease"	608893					Standard	NM_001003841		Approved		uc003jbw.4	Q695T7	OTTHUMG00000161636	ENST00000304460.10:c.903G>T	5.37:g.1216688G>T	ENSP00000305302:p.Lys301Asn						p.K301N	NM_001003841.2	NP_001003841.1	Q695T7	S6A19_HUMAN	Epithelial(17;0.000356)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)		7	959	+	all_cancers(3;3.55e-15)|Lung NSC(6;2.89e-14)|all_lung(6;2.2e-13)|all_epithelial(6;3.75e-10)		301					A8K446	Missense_Mutation	SNP	ENST00000304460.10	37	c.903G>T	CCDS34130.1	.	.	.	.	.	.	.	.	.	.	G	19.76	3.886896	0.72410	.	.	ENSG00000174358	ENST00000304460	T	0.75367	-0.93	4.61	3.73	0.42828	.	0.488685	0.23727	N	0.045164	T	0.75436	0.3849	L	0.52364	1.645	0.33128	D	0.542746	P	0.40731	0.728	P	0.50896	0.653	T	0.82090	-0.0629	10	0.66056	D	0.02	.	9.5847	0.39510	0.1678:0.0:0.8322:0.0	.	301	Q695T7	S6A19_HUMAN	N	301	ENSP00000305302:K301N	ENSP00000305302:K301N	K	+	3	2	SLC6A19	1269688	1.000000	0.71417	1.000000	0.80357	0.095000	0.18619	2.360000	0.44151	2.112000	0.64535	0.491000	0.48974	AAG		0.607	SLC6A19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365557.1	XM_291120		11	63	1	0	0.00010058	1	0.000103117	11	63					T	1216688	G	T	1216688	3	4	435	1	0	0	0	0	1	0	0	0	14682	991	35	5	929	5	SLC6A19	5	1216688	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	3045	1216688	179698572	2562	23487											
SLC6A19	340024	broad.mit.edu	37	chr5	1217047	1217047	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ccagacctgcgacatcaacgCcttcctctcagaggtaggtc	9	8	9	15	2	2	2	2	0	1	2	5	3	3	2	4	2	2	1	4	2	2	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:1217047C>T	ENST00000304460.10	+	8	1216	c.1160C>T	c.(1159-1161)gCc>gTc	p.A387V		NM_001003841.2	NP_001003841.1	Q695T7	S6A19_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 19	387					amino acid transport (GO:0006865)|ion transport (GO:0006811)|response to nutrient (GO:0007584)|transmembrane transport (GO:0055085)	brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neurotransmitter:sodium symporter activity (GO:0005328)|neutral amino acid transmembrane transporter activity (GO:0015175)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(25)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	all_cancers(3;3.55e-15)|Lung NSC(6;2.89e-14)|all_lung(6;2.2e-13)|all_epithelial(6;3.75e-10)		Epithelial(17;0.000356)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			GACATCAACGCCTTCCTCTCA	0.657																																						ENST00000304460.10																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(25)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	44						c.(1159-1161)gCc>gTc		solute carrier family 6 (neutral amino acid transporter), member 19							113	109	110					5																	1217047		2203	4300	6503	SO:0001583	missense	340024				cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity	g.chr5:1217047C>T	AK096054	CCDS34130.1	5p15	2013-07-19			ENSG00000174358	ENSG00000174358		"Solute carriers"	27960	protein-coding gene	gene with protein product	"Hartnup disease"	608893					Standard	NM_001003841		Approved		uc003jbw.4	Q695T7	OTTHUMG00000161636	ENST00000304460.10:c.1160C>T	5.37:g.1217047C>T	ENSP00000305302:p.Ala387Val						p.A387V	NM_001003841.2	NP_001003841.1	Q695T7	S6A19_HUMAN	Epithelial(17;0.000356)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)		8	1216	+	all_cancers(3;3.55e-15)|Lung NSC(6;2.89e-14)|all_lung(6;2.2e-13)|all_epithelial(6;3.75e-10)		387					A8K446	Missense_Mutation	SNP	ENST00000304460.10	37	c.1160C>T	CCDS34130.1	.	.	.	.	.	.	.	.	.	.	C	13.43	2.233980	0.39498	.	.	ENSG00000174358	ENST00000304460	T	0.74421	-0.84	4.85	3.97	0.46021	.	1.353650	0.04251	N	0.338561	T	0.65281	0.2676	N	0.14661	0.345	0.09310	N	1	B	0.13594	0.008	B	0.16722	0.016	T	0.54853	-0.8231	10	0.51188	T	0.08	.	13.7119	0.62674	0.0:0.7092:0.2908:0.0	.	387	Q695T7	S6A19_HUMAN	V	387	ENSP00000305302:A387V	ENSP00000305302:A387V	A	+	2	0	SLC6A19	1270047	0.028000	0.19301	0.810000	0.32431	0.665000	0.39181	0.553000	0.23391	1.007000	0.39238	0.491000	0.48974	GCC		0.657	SLC6A19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365557.1	XM_291120		25	53	0	0	0	1	0	25	53					T	1217047	C	T	1217047	3	4	435	1	0	0	0	0	1	0	0	0	14682	739	26	3	1190	3	SLC6A19	5	1217047	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	359	1217047	179698213	2563	23488											
SLC6A18	348932	broad.mit.edu	37	chr5	1244331	1244331	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctttcccactgccccagggCtggtctgcctggtctgcttc	2	12	10	17	0	2	0	0	0	2	0	4	0	3	0	5	3	3	2	5	3	0	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:1244331C>T	ENST00000324642.3	+	10	1462	c.1339C>T	c.(1339-1341)Ctg>Ttg	p.L447L	SLC6A18_ENST00000296821.4_Intron	NM_182632.2	NP_872438.2	Q96N87	S6A18_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 18	447					amino acid transmembrane transport (GO:0003333)|amino acid transport (GO:0006865)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	brush border membrane (GO:0031526)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neurotransmitter:sodium symporter activity (GO:0005328)			endometrium(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(4)|upper_aerodigestive_tract(1)	34	all_cancers(3;2.99e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.76e-10)		Epithelial(17;0.000356)|all cancers(22;0.00124)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			TGCCCCAGGGCTGGTCTGCCT	0.632																																						ENST00000324642.3																			0				endometrium(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(4)|upper_aerodigestive_tract(1)	34						c.(1339-1341)Ctg>Ttg		solute carrier family 6 (neutral amino acid transporter), member 18							72	71	71					5																	1244331		2203	4300	6503	SO:0001819	synonymous_variant	348932				cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity	g.chr5:1244331C>T	AK055798	CCDS3860.1	5p15	2013-07-19	2013-07-19		ENSG00000164363	ENSG00000164363		"Solute carriers"	26441	protein-coding gene	gene with protein product		610300	"solute carrier family 6 (neurotransmitter transporter), member 18", "solute carrier family 6, member 18"			19478081	Standard	NM_182632		Approved	FLJ31236, Xtrp2	uc003jby.2	Q96N87	OTTHUMG00000090356	ENST00000324642.3:c.1339C>T	5.37:g.1244331C>T						SLC6A18_ENST00000296821.4_Intron	p.L447L	NM_182632.2	NP_872438.2	Q96N87	S6A18_HUMAN	Epithelial(17;0.000356)|all cancers(22;0.00124)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)		10	1462	+	all_cancers(3;2.99e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.76e-10)		447						Silent	SNP	ENST00000324642.3	37	c.1339C>T	CCDS3860.1																																																																																				0.632	SLC6A18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206728.3	NM_182632		10	46	0	0	0	1	0	10	46					T	1244331	C	T	1244331	2	4	435	1	0	0	0	0	0	0	0	1	14681	796	28	3		3	SLC6A18	5	1244331	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	27284	1244331	179670929	2564	23489											
TERT	7015	broad.mit.edu	37	chr5	1264629	1264629	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccgtgccacccagggcctcGtcttctacagggaagttcac	7	8	11	15	2	3	0	1	0	2	0	4	1	3	1	4	2	2	1	4	2	2	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:1264629G>A	ENST00000310581.5	-	11	2790	c.2733C>T	c.(2731-2733)gaC>gaT	p.D911D	TERT_ENST00000296820.5_3'UTR|TERT_ENST00000334602.6_Intron	NM_001193376.1|NM_198253.2	NP_001180305.1|NP_937983.2	O14746	TERT_HUMAN	telomerase reverse transcriptase	911	Reverse transcriptase. {ECO:0000255|PROSITE-ProRule:PRU00405}.				DNA strand elongation (GO:0022616)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|replicative senescence (GO:0090399)|telomere formation via telomerase (GO:0032203)|telomere maintenance (GO:0000723)|telomere maintenance via telomerase (GO:0007004)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nuclear telomere cap complex (GO:0000783)|nucleoplasm (GO:0005654)|telomerase holoenzyme complex (GO:0005697)	metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|telomerase activity (GO:0003720)|telomeric DNA binding (GO:0042162)|telomeric RNA binding (GO:0070034)|telomeric template RNA reverse transcriptase activity (GO:0003721)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(3)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	41	all_cancers(3;3.17e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.87e-10)		Epithelial(17;0.00105)|all cancers(22;0.00178)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)		Zidovudine(DB00495)	CCAGGGCCTCGTCTTCTACAG	0.622									TERT Mutation-Associated Haematological Disorders;Pulmonary Fibrosis, Idiopathic;Congenital Dyskeratosis																													ENST00000310581.5																			0				NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(3)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	41						c.(2731-2733)gaC>gaT		telomerase reverse transcriptase							72	82	78					5																	1264629		2114	4212	6326	SO:0001819	synonymous_variant	0	TERT Mutation-Associated Haematological Disorders;Pulmonary Fibrosis, Idiopathic;Congenital Dyskeratosis	Familial Cancer Database	;Hamman-Rich syndrome, Fibrocystic Pulmonary Dysplasia;Zinsser-Engman-Cole syndrome, Dyskeratosis Congenita	anti-apoptosis|DNA strand elongation|replicative senescence|telomere formation via telomerase|telomere maintenance via telomerase	cytoplasm|nucleolus|PML body|telomerase holoenzyme complex	protein homodimerization activity|telomeric DNA binding|telomeric RNA binding|telomeric template RNA reverse transcriptase activity	g.chr5:1264629G>A	AF015950	CCDS3861.2, CCDS54831.1	5p15.33	2014-09-17			ENSG00000164362	ENSG00000164362			11730	protein-coding gene	gene with protein product		187270				9252327	Standard	NM_198253		Approved	TRT, TP2, TCS1, hEST2, EST2	uc003jcb.1	O14746	OTTHUMG00000090357	ENST00000310581.5:c.2733C>T	5.37:g.1264629G>A						TERT_ENST00000334602.6_Intron|TERT_ENST00000296820.5_3'UTR	p.D911D	NM_001193376.1|NM_198253.2	NP_001180305.1|NP_937983.2	O14746	TERT_HUMAN	Epithelial(17;0.00105)|all cancers(22;0.00178)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)		11	2790	-	all_cancers(3;3.17e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.87e-10)		911			Reverse transcriptase.		O14783|Q2XS35|Q8N6C3|Q8NG38|Q8NG46	Silent	SNP	ENST00000310581.5	37	c.2733C>T	CCDS3861.2																																																																																				0.622	TERT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206729.2			23	22	0	0	0	1	0	23	22					A	1264629	G	A	1264629	2	1	435	1	0	0	0	0	0	0	0	1	15761	1136	40	1		1	TERT	5	1264629	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	20298	1264629	179650631	2565	23490											
CLPTM1L	81037	broad.mit.edu	37	chr5	1321902	1321902	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gtagttcacaaagagctgggGcagcatgaagaggaaaccaa	16	5	13	7	0	1	3	1	1	0	2	1	4	1	4	1	3	3	5	1	3	5	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:1321902G>A	ENST00000320895.5	-	14	1605	c.1348C>T	c.(1348-1350)Ccc>Tcc	p.P450S	CLPTM1L_ENST00000506641.1_5'UTR|CLPTM1L_ENST00000507807.1_Missense_Mutation_p.P281S|CLPTM1L_ENST00000320927.6_Missense_Mutation_p.P414S	NM_030782.3	NP_110409.2	Q96KA5	CLP1L_HUMAN	CLPTM1-like	450					apoptotic process (GO:0006915)	integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24	Lung NSC(6;5.78e-14)|all_lung(6;4.47e-13)|all_epithelial(6;4.47e-09)		Epithelial(17;0.00931)|OV - Ovarian serous cystadenocarcinoma(19;0.0116)|all cancers(22;0.0181)	KIRC - Kidney renal clear cell carcinoma(5;0.177)|Kidney(13;0.208)		AAGAGCTGGGGCAGCATGAAG	0.627																																						ENST00000320895.5																			0				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24						c.(1348-1350)Ccc>Tcc		CLPTM1-like							61	63	62					5																	1321902		2203	4300	6503	SO:0001583	missense	81037				apoptosis	integral to membrane		g.chr5:1321902G>A	AK027306	CCDS3862.1	5p15.33	2008-02-05			ENSG00000049656	ENSG00000049656			24308	protein-coding gene	gene with protein product	"cisplatin resistance related protein"	612585				11162647	Standard	NM_030782		Approved	FLJ14400, CRR9	uc003jch.3	Q96KA5	OTTHUMG00000131015	ENST00000320895.5:c.1348C>T	5.37:g.1321902G>A	ENSP00000313854:p.Pro450Ser					CLPTM1L_ENST00000507807.1_Missense_Mutation_p.P281S|CLPTM1L_ENST00000320927.6_Missense_Mutation_p.P414S|CLPTM1L_ENST00000506641.1_5'UTR	p.P450S	NM_030782.3	NP_110409.2	Q96KA5	CLP1L_HUMAN	Epithelial(17;0.00931)|OV - Ovarian serous cystadenocarcinoma(19;0.0116)|all cancers(22;0.0181)	KIRC - Kidney renal clear cell carcinoma(5;0.177)|Kidney(13;0.208)	14	1605	-	Lung NSC(6;5.78e-14)|all_lung(6;4.47e-13)|all_epithelial(6;4.47e-09)		450					D3DTC1|Q658W6|Q7LG29|Q96AZ0|Q9H3N4	Missense_Mutation	SNP	ENST00000320895.5	37	c.1348C>T	CCDS3862.1	.	.	.	.	.	.	.	.	.	.	G	29.0	4.966120	0.92855	.	.	ENSG00000049656	ENST00000320895;ENST00000507807;ENST00000320927	T;T;T	0.81078	-1.45;-0.52;-0.68	4.57	4.57	0.56435	.	0.000000	0.85682	D	0.000000	D	0.92658	0.7667	H	0.95224	3.64	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.94970	0.8116	10	0.87932	D	0	-30.3513	16.4928	0.84206	0.0:0.0:1.0:0.0	.	450;281	Q96KA5;G5E9Z2	CLP1L_HUMAN;.	S	450;281;414	ENSP00000313854:P450S;ENSP00000423321:P281S;ENSP00000315196:P414S	ENSP00000313854:P450S	P	-	1	0	CLPTM1L	1374902	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	8.965000	0.93393	2.233000	0.73108	0.555000	0.69702	CCC		0.627	CLPTM1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253649.2	NM_030782		13	14	0	0	0	1	0	13	14					A	1321902	G	A	1321902	3	1	435	1	0	0	0	0	1	0	0	0	3555	1203	42	3	284	3	CLPTM1L	5	1321902	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	57273	1321902	179593358	2566	23491											
CLPTM1L	81037	broad.mit.edu	37	chr5	1334415	1334415	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atgactcacatggaacgctgCgacaaagaaggtcagcgcca	14	5	11	11	3	2	2	2	1	0	1	2	4	2	3	1	2	3	1	1	2	3	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:1334415C>T	ENST00000320895.5	-	7	1137	c.880G>A	c.(880-882)Gca>Aca	p.A294T	CLPTM1L_ENST00000507807.1_Missense_Mutation_p.A161T|CLPTM1L_ENST00000320927.6_Missense_Mutation_p.A294T	NM_030782.3	NP_110409.2	Q96KA5	CLP1L_HUMAN	CLPTM1-like	294					apoptotic process (GO:0006915)	integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24	Lung NSC(6;5.78e-14)|all_lung(6;4.47e-13)|all_epithelial(6;4.47e-09)		Epithelial(17;0.00931)|OV - Ovarian serous cystadenocarcinoma(19;0.0116)|all cancers(22;0.0181)	KIRC - Kidney renal clear cell carcinoma(5;0.177)|Kidney(13;0.208)		TGGAACGCTGCGACAAAGAAG	0.552																																						ENST00000320895.5																			0				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24						c.(880-882)Gca>Aca		CLPTM1-like							84	89	88					5																	1334415		2203	4300	6503	SO:0001583	missense	81037				apoptosis	integral to membrane		g.chr5:1334415C>T	AK027306	CCDS3862.1	5p15.33	2008-02-05			ENSG00000049656	ENSG00000049656			24308	protein-coding gene	gene with protein product	"cisplatin resistance related protein"	612585				11162647	Standard	NM_030782		Approved	FLJ14400, CRR9	uc003jch.3	Q96KA5	OTTHUMG00000131015	ENST00000320895.5:c.880G>A	5.37:g.1334415C>T	ENSP00000313854:p.Ala294Thr					CLPTM1L_ENST00000507807.1_Missense_Mutation_p.A161T|CLPTM1L_ENST00000320927.6_Missense_Mutation_p.A294T	p.A294T	NM_030782.3	NP_110409.2	Q96KA5	CLP1L_HUMAN	Epithelial(17;0.00931)|OV - Ovarian serous cystadenocarcinoma(19;0.0116)|all cancers(22;0.0181)	KIRC - Kidney renal clear cell carcinoma(5;0.177)|Kidney(13;0.208)	7	1137	-	Lung NSC(6;5.78e-14)|all_lung(6;4.47e-13)|all_epithelial(6;4.47e-09)		294					D3DTC1|Q658W6|Q7LG29|Q96AZ0|Q9H3N4	Missense_Mutation	SNP	ENST00000320895.5	37	c.880G>A	CCDS3862.1	.	.	.	.	.	.	.	.	.	.	C	15.11	2.735599	0.49045	.	.	ENSG00000049656	ENST00000320895;ENST00000507807;ENST00000320927	T;T;T	0.42513	0.97;1.0;0.98	4.48	2.68	0.31781	.	0.048891	0.85682	D	0.000000	T	0.47507	0.1449	L	0.41079	1.255	0.54753	D	0.999987	D;D	0.76494	0.975;0.999	P;P	0.61003	0.476;0.882	T	0.25363	-1.0134	10	0.37606	T	0.19	-7.2183	10.6421	0.45598	0.0:0.8406:0.0:0.1594	.	294;161	Q96KA5;G5E9Z2	CLP1L_HUMAN;.	T	294;161;294	ENSP00000313854:A294T;ENSP00000423321:A161T;ENSP00000315196:A294T	ENSP00000313854:A294T	A	-	1	0	CLPTM1L	1387415	1.000000	0.71417	0.010000	0.14722	0.059000	0.15707	5.491000	0.66887	0.317000	0.23160	0.556000	0.70494	GCA		0.552	CLPTM1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253649.2	NM_030782		8	11	0	0	0	1	0	8	11					T	1334415	C	T	1334415	3	4	435	1	0	0	0	0	1	0	0	0	3555	768	27	1	780	1	CLPTM1L	5	1334415	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	12513	1334415	179580845	2567	23492											
IRX4	50805	broad.mit.edu	37	chr5	1879621	1879621	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acaacctcccaacccacctgCgttcttggagctcttgaggg	8	9	9	15	1	2	1	0	1	2	0	3	2	3	2	4	2	4	2	4	2	2	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:1879621C>T	ENST00000505790.1	-	5	1189	c.733G>A	c.(733-735)Gca>Aca	p.A245T	IRX4_ENST00000231357.2_Missense_Mutation_p.A245T|IRX4_ENST00000505938.1_5'UTR|IRX4_ENST00000513692.1_Missense_Mutation_p.A245T	NM_001278634.1	NP_001265563.1	P78413	IRX4_HUMAN	iroquois homeobox 4	245					establishment of organ orientation (GO:0048561)|heart development (GO:0007507)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			endometrium(1)|lung(7)|ovary(1)|prostate(1)	10				GBM - Glioblastoma multiforme(108;0.242)		AACCCACCTGCGTTCTTGGAG	0.667																																						ENST00000505790.1																			0				endometrium(1)|lung(7)|ovary(1)|prostate(1)	10						c.(733-735)Gca>Aca		iroquois homeobox 4							36	35	35					5																	1879621		2190	4283	6473	SO:0001583	missense	50805				heart development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr5:1879621C>T	AF124733	CCDS3867.1, CCDS75225.1	5p15.33	2011-06-20	2007-07-13		ENSG00000113430	ENSG00000113430		"Homeoboxes / TALE class"	6129	protein-coding gene	gene with protein product		606199	"iroquois homeobox protein 4"			10625552	Standard	NM_016358		Approved		uc003jcz.2	P78413	OTTHUMG00000090411	ENST00000505790.1:c.733G>A	5.37:g.1879621C>T	ENSP00000423161:p.Ala245Thr					IRX4_ENST00000231357.2_Missense_Mutation_p.A245T|IRX4_ENST00000505938.1_5'UTR|IRX4_ENST00000513692.1_Missense_Mutation_p.A245T	p.A245T	NM_001278634.1	NP_001265563.1	P78413	IRX4_HUMAN		GBM - Glioblastoma multiforme(108;0.242)	5	1189	-			245					B2RMW5|D3DTC5|H1AFL0|H1AFL1|Q2NL64|Q9UHR2	Missense_Mutation	SNP	ENST00000505790.1	37	c.733G>A	CCDS3867.1	.	.	.	.	.	.	.	.	.	.	C	6.386	0.439270	0.12104	.	.	ENSG00000113430	ENST00000231357;ENST00000505790;ENST00000513692	T;T;T	0.63913	-0.07;-0.07;-0.07	4.17	4.17	0.49024	.	0.272597	0.32287	N	0.006318	T	0.35335	0.0928	N	0.08118	0	0.23550	N	0.997439	B	0.27679	0.185	B	0.14023	0.01	T	0.12578	-1.0542	10	0.21014	T	0.42	.	9.2497	0.37547	0.0:0.8981:0.0:0.1019	.	245	P78413	IRX4_HUMAN	T	245	ENSP00000231357:A245T;ENSP00000423161:A245T;ENSP00000424235:A245T	ENSP00000231357:A245T	A	-	1	0	IRX4	1932621	0.846000	0.29590	0.575000	0.28536	0.077000	0.17291	1.711000	0.37930	2.156000	0.67533	0.462000	0.41574	GCA		0.667	IRX4-004	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365500.1	NM_016358		22	29	0	0	0	1	0	22	29					T	1879621	C	T	1879621	3	4	435	1	0	0	0	0	1	0	0	0	7846	768	27	1	834	1	IRX4	5	1879621	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	545206	1879621	179035639	2568	23493											
ADAMTS16	170690	broad.mit.edu	37	chr5	5235199	5235199	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tgcaacagtcagaaatgtccCcgggacagtgttgacttccg	10	9	11	11	2	1	2	1	1	0	1	3	3	3	3	3	1	2	2	3	1	2	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:5235199C>T	ENST00000274181.7	+	13	2061	c.1923C>T	c.(1921-1923)ccC>ccT	p.P641P	ADAMTS16_ENST00000513709.1_3'UTR	NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	641	TSP type-1 1. {ECO:0000255|PROSITE- ProRule:PRU00210}.				branching involved in ureteric bud morphogenesis (GO:0001658)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						AGAAATGTCCCCGGGACAGTG	0.517																																						ENST00000274181.7																			0				breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						c.(1921-1923)ccC>ccT		ADAM metallopeptidase with thrombospondin type 1 motif, 16							74	77	76					5																	5235199		1940	4140	6080	SO:0001819	synonymous_variant	170690				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:5235199C>T	AJ315734	CCDS43299.1	5p15	2008-07-18	2005-08-19		ENSG00000145536	ENSG00000145536		"ADAM metallopeptidases with thrombospondin type 1 motif"	17108	protein-coding gene	gene with protein product		607510	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 16"			11867212	Standard	NM_139056		Approved	ADAMTS16s	uc003jdl.3	Q8TE57	OTTHUMG00000161663	ENST00000274181.7:c.1923C>T	5.37:g.5235199C>T						ADAMTS16_ENST00000513709.1_3'UTR	p.P641P	NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN			13	2061	+			641			TSP type-1 1.		C6G490|Q8IVE2	Silent	SNP	ENST00000274181.7	37	c.1923C>T	CCDS43299.1																																																																																				0.517	ADAMTS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365657.1	NM_139056		22	28	0	0	0	1	0	22	28					T	5235199	C	T	5235199	2	4	435	1	0	0	0	0	0	0	0	1	261	610	22	3		3	ADAMTS16	5	5235199	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	3355578	5235199	175680061	2569	23494											
ADAMTS16	170690	broad.mit.edu	37	chr5	5237184	5237184	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tccatgctcggaggatagccGtaatgtttgtatagatggga	10	12	13	6	2	0	1	0	0	0	1	2	4	1	4	2	3	2	4	2	3	4	5	rs371654781		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:5237184G>A	ENST00000274181.7	+	14	2264	c.2126G>A	c.(2125-2127)cGt>cAt	p.R709H	ADAMTS16_ENST00000513709.1_Intron	NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	709	Cys-rich.				branching involved in ureteric bud morphogenesis (GO:0001658)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						GAGGATAGCCGTAATGTTTGT	0.403																																						ENST00000274181.7																			0				breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						c.(2125-2127)cGt>cAt		ADAM metallopeptidase with thrombospondin type 1 motif, 16		G	HIS/ARG	1,3801		0,1,1900	138	128	131		2126	5.7	1	5		131	0,8246		0,0,4123	no	missense	ADAMTS16	NM_139056.2	29	0,1,6023	AA,AG,GG		0.0,0.0263,0.0083	benign	709/1225	5237184	1,12047	1901	4123	6024	SO:0001583	missense	170690				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:5237184G>A	AJ315734	CCDS43299.1	5p15	2008-07-18	2005-08-19		ENSG00000145536	ENSG00000145536		"ADAM metallopeptidases with thrombospondin type 1 motif"	17108	protein-coding gene	gene with protein product		607510	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 16"			11867212	Standard	NM_139056		Approved	ADAMTS16s	uc003jdl.3	Q8TE57	OTTHUMG00000161663	ENST00000274181.7:c.2126G>A	5.37:g.5237184G>A	ENSP00000274181:p.Arg709His					ADAMTS16_ENST00000513709.1_Intron	p.R709H	NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN			14	2264	+			709			Cys-rich.		C6G490|Q8IVE2	Missense_Mutation	SNP	ENST00000274181.7	37	c.2126G>A	CCDS43299.1	.	.	.	.	.	.	.	.	.	.	G	10.16	1.275132	0.23307	2.63E-4	0.0	ENSG00000145536	ENST00000274181;ENST00000536857	T	0.59638	0.25	5.73	5.73	0.89815	.	0.373024	0.28712	N	0.014384	T	0.46444	0.1393	L	0.52364	1.645	0.30781	N	0.741972	B;B	0.21688	0.059;0.023	B;B	0.15484	0.006;0.013	T	0.42949	-0.9421	10	0.16420	T	0.52	.	8.3841	0.32491	0.0811:0.1572:0.7617:0.0	.	709;709	Q8TE57;Q8TE57-2	ATS16_HUMAN;.	H	709	ENSP00000274181:R709H	ENSP00000274181:R709H	R	+	2	0	ADAMTS16	5290184	0.227000	0.23707	1.000000	0.80357	0.998000	0.95712	0.854000	0.27791	2.708000	0.92522	0.655000	0.94253	CGT		0.403	ADAMTS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365657.1	NM_139056		24	49	0	0	0	1	0	24	49					A	5237184	G	A	5237184	3	1	435	1	0	0	0	0	1	0	0	0	261	1145	40	1	2180	1	ADAMTS16	5	5237184	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	1985	5237184	175678076	2570	23495											
ADAMTS16	170690	broad.mit.edu	37	chr5	5303789	5303789	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cccgacgctgtctgcacctcCgagcccaagcccaggatgca	8	5	10	18	3	1	0	0	0	1	0	2	3	2	1	5	1	4	3	5	1	1	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:5303789C>T	ENST00000274181.7	+	20	3234	c.3096C>T	c.(3094-3096)tcC>tcT	p.S1032S		NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	1032	TSP type-1 4. {ECO:0000255|PROSITE- ProRule:PRU00210}.				branching involved in ureteric bud morphogenesis (GO:0001658)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						TCTGCACCTCCGAGCCCAAGC	0.652																																						ENST00000274181.7																			0				breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						c.(3094-3096)tcC>tcT		ADAM metallopeptidase with thrombospondin type 1 motif, 16							35	42	40					5																	5303789		2131	4257	6388	SO:0001819	synonymous_variant	170690				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:5303789C>T	AJ315734	CCDS43299.1	5p15	2008-07-18	2005-08-19		ENSG00000145536	ENSG00000145536		"ADAM metallopeptidases with thrombospondin type 1 motif"	17108	protein-coding gene	gene with protein product		607510	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 16"			11867212	Standard	NM_139056		Approved	ADAMTS16s	uc003jdl.3	Q8TE57	OTTHUMG00000161663	ENST00000274181.7:c.3096C>T	5.37:g.5303789C>T							p.S1032S	NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN			20	3234	+			1032			TSP type-1 4.		C6G490|Q8IVE2	Silent	SNP	ENST00000274181.7	37	c.3096C>T	CCDS43299.1																																																																																				0.652	ADAMTS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365657.1	NM_139056		5	24	0	0	0	1	0	5	24					T	5303789	C	T	5303789	2	4	435	1	0	0	0	0	0	0	0	1	261	639	23	2		2	ADAMTS16	5	5303789	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	66605	5303789	175611471	2571	23496											
ADAMTS16	170690	broad.mit.edu	37	chr5	5319178	5319178	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ccactggtgctacctggtacCccagcacgggatgtgcagcc	7	7	12	15	1	0	0	0	0	0	0	0	1	0	1	5	3	6	4	5	3	2	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:5319178C>G	ENST00000274181.7	+	23	3740	c.3602C>G	c.(3601-3603)cCc>cGc	p.P1201R		NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	1201	PLAC. {ECO:0000255|PROSITE- ProRule:PRU00233}.				branching involved in ureteric bud morphogenesis (GO:0001658)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						TACCTGGTACCCCAGCACGGG	0.537																																						ENST00000274181.7																			0				breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						c.(3601-3603)cCc>cGc		ADAM metallopeptidase with thrombospondin type 1 motif, 16							48	50	49					5																	5319178		2004	4174	6178	SO:0001583	missense	170690				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:5319178C>G	AJ315734	CCDS43299.1	5p15	2008-07-18	2005-08-19		ENSG00000145536	ENSG00000145536		"ADAM metallopeptidases with thrombospondin type 1 motif"	17108	protein-coding gene	gene with protein product		607510	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 16"			11867212	Standard	NM_139056		Approved	ADAMTS16s	uc003jdl.3	Q8TE57	OTTHUMG00000161663	ENST00000274181.7:c.3602C>G	5.37:g.5319178C>G	ENSP00000274181:p.Pro1201Arg						p.P1201R	NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN			23	3740	+			1201			PLAC.		C6G490|Q8IVE2	Missense_Mutation	SNP	ENST00000274181.7	37	c.3602C>G	CCDS43299.1	.	.	.	.	.	.	.	.	.	.	C	19.43	3.826436	0.71143	.	.	ENSG00000145536	ENST00000274181	T	0.39406	1.08	4.54	4.54	0.55810	PLAC (2);	0.000000	0.85682	D	0.000000	T	0.58652	0.2137	M	0.67397	2.05	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.55036	-0.8203	10	0.10636	T	0.68	.	15.1459	0.72650	0.0:1.0:0.0:0.0	.	1201	Q8TE57	ATS16_HUMAN	R	1201	ENSP00000274181:P1201R	ENSP00000274181:P1201R	P	+	2	0	ADAMTS16	5372178	1.000000	0.71417	0.942000	0.38095	0.676000	0.39594	7.145000	0.77365	2.233000	0.73108	0.467000	0.42956	CCC		0.537	ADAMTS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365657.1	NM_139056		6	9	0	0	0	1	0	6	9					G	5319178	C	G	5319178	3	3	435	1	0	0	0	0	1	0	0	0	261	623	22	5	3692	5	ADAMTS16	5	5319178	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	15389	5319178	175596082	2572	23497											
KIAA0947	23379	broad.mit.edu	37	chr5	5461107	5461107	+	Frame_Shift_Del	DEL	A	A	-																															aaggaaaaaccgtattgtctAaaatgatgggatcgcccaaa																										TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:5461107delA	ENST00000296564.7	+	13	1882	c.1660delA	c.(1660-1662)aaafs	p.K554fs		NM_015325.2	NP_056140.1	Q9Y2F5	ICE1_HUMAN		554					positive regulation of intracellular protein transport (GO:0090316)|positive regulation of protein complex assembly (GO:0031334)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|snRNA transcription from RNA polymerase II promoter (GO:0042795)|snRNA transcription from RNA polymerase III promoter (GO:0042796)	Cajal body (GO:0015030)|histone locus body (GO:0035363)|transcription elongation factor complex (GO:0008023)|transcriptionally active chromatin (GO:0035327)	protein homodimerization activity (GO:0042803)	p.K554E(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	35						CGTATTGTCTAAAATGATGGG	0.433																																						ENST00000296564.7																			1	Substitution - Missense(1)	p.K554E(1)	breast(1)	breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	35						c.(1660-1662)aafs		KIAA0947							164	162	163					5																	5461107		1868	4105	5973	SO:0001589	frameshift_variant	23379							g.chr5:5461107delA																												ENST00000296564.7:c.1660delA	5.37:g.5461107delA	ENSP00000296564:p.Lys554fs						p.K554fs	NM_015325.2	NP_056140.1	Q9Y2F5	K0947_HUMAN			13	1882	+			554					Q68DE1|Q6ZT40|Q7L587|Q7Z3A9|Q9NTH9	Frame_Shift_Del	DEL	ENST00000296564.7	37	c.1660delA	CCDS47187.1																																																																																				0.433	KIAA0947-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365575.1			78	103						78	103	---	---	---	---	-	5461107	A	-	5461107	7	5	435	1	0	1	0	1	0	0	0	0	8202	363	13	0	1710	0	KIAA0947	5	5461107	Frame_Shift_Del	DEL	A	TCGA-XK-AAIW-01A-11D-A41K-08	141929	5461107	175454153	2573	23498											
KIAA0947	23379	broad.mit.edu	37	chr5	5473844	5473844	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	catcagaaatggatctggacGcatgataacatcataaggtt	15	10	9	7	1	3	2	2	1	1	1	3	4	3	4	0	3	1	2	0	3	3	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:5473844G>A	ENST00000296564.7	+	16	6618	c.6396G>A	c.(6394-6396)acG>acA	p.T2132T		NM_015325.2	NP_056140.1	Q9Y2F5	ICE1_HUMAN		2132					positive regulation of intracellular protein transport (GO:0090316)|positive regulation of protein complex assembly (GO:0031334)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|snRNA transcription from RNA polymerase II promoter (GO:0042795)|snRNA transcription from RNA polymerase III promoter (GO:0042796)	Cajal body (GO:0015030)|histone locus body (GO:0035363)|transcription elongation factor complex (GO:0008023)|transcriptionally active chromatin (GO:0035327)	protein homodimerization activity (GO:0042803)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	35						GGATCTGGACGCATGATAACA	0.328																																						ENST00000296564.7																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	35						c.(6394-6396)acG>acA		KIAA0947							45	42	43					5																	5473844		1875	4114	5989	SO:0001819	synonymous_variant	23379							g.chr5:5473844G>A																												ENST00000296564.7:c.6396G>A	5.37:g.5473844G>A							p.T2132T	NM_015325.2	NP_056140.1	Q9Y2F5	K0947_HUMAN			16	6618	+			2132					Q68DE1|Q6ZT40|Q7L587|Q7Z3A9|Q9NTH9	Silent	SNP	ENST00000296564.7	37	c.6396G>A	CCDS47187.1																																																																																				0.328	KIAA0947-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365575.1			10	17	0	0	0	1	0	10	17					A	5473844	G	A	5473844	2	1	435	1	0	0	0	0	0	0	0	1	8202	1074	38	1		1	KIAA0947	5	5473844	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	12737	5473844	175441416	2574	23499											
NSUN2	54888	broad.mit.edu	37	chr5	6605395	6605395	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcggctggcaccttcatcttCtcactgttattcagcagcac	7	12	8	14	1	4	0	3	0	2	0	5	0	4	0	1	2	2	5	1	2	1	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:6605395C>T	ENST00000264670.6	-	15	2039	c.1728G>A	c.(1726-1728)gaG>gaA	p.E576E	NSUN2_ENST00000539938.1_Silent_p.E340E|NSUN2_ENST00000506139.1_Silent_p.E541E	NM_017755.5	NP_060225.4	Q08J23	NSUN2_HUMAN	NOP2/Sun RNA methyltransferase family, member 2	576					mitotic nuclear division (GO:0007067)|tRNA methylation (GO:0030488)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|tRNA (cytosine-5-)-methyltransferase activity (GO:0016428)|tRNA binding (GO:0000049)			breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(23)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	41						CCTTCATCTTCTCACTGTTAT	0.498																																						ENST00000264670.6																			0				breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(23)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	41						c.(1726-1728)gaG>gaA		NOP2/Sun RNA methyltransferase family, member 2							191	187	188					5																	6605395		2203	4300	6503	SO:0001819	synonymous_variant	54888					cytoplasm|nucleolus	tRNA (cytosine-5-)-methyltransferase activity|tRNA binding	g.chr5:6605395C>T	AK000310	CCDS3869.1, CCDS54832.1	5p15.32	2014-01-31	2012-06-12		ENSG00000037474	ENSG00000037474		"NOP2/Sun domain containing"	25994	protein-coding gene	gene with protein product	"tRNA methyltransferase 4 homolog (S. cerevisiae)", "Myc-induced SUN-domain-containing protein"	610916	"NOL1/NOP2/Sun domain family, member 2", "NOP2/Sun domain family, member 2", "mental retardation, non-syndromic, autosomal recessive, 5"	MRT5		17071714, 22541559	Standard	NM_017755		Approved	FLJ20303, TRM4, Misu	uc003jdu.3	Q08J23	OTTHUMG00000090455	ENST00000264670.6:c.1728G>A	5.37:g.6605395C>T						NSUN2_ENST00000539938.1_Silent_p.E340E|NSUN2_ENST00000506139.1_Silent_p.E541E	p.E576E	NM_017755.5	NP_060225.4	Q08J23	NSUN2_HUMAN			15	2039	-			576					A8K529|B2RNR4|B3KP09|B4DQW2|G3V1R4|Q9BVN4|Q9H858|Q9NXD9	Silent	SNP	ENST00000264670.6	37	c.1728G>A	CCDS3869.1																																																																																				0.498	NSUN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206902.1	NM_017755		35	62	0	0	0	1	0	35	62					T	6605395	C	T	6605395	2	4	435	1	0	0	0	0	0	0	0	1	10678	912	32	3		3	NSUN2	5	6605395	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	1131551	6605395	174309865	2575	23500											
PAPD7	11044	broad.mit.edu	37	chr5	6754936	6754936	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gcggcggctacagctctgtgGgtagcggaggtgtgcggccc	4	7	19	11	4	1	0	0	0	1	0	1	1	1	1	1	6	4	3	1	6	2	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:6754936G>A	ENST00000230859.6	+	13	1636	c.1507G>A	c.(1507-1509)Ggt>Agt	p.G503S		NM_001171805.1|NM_001171806.1|NM_006999.4	NP_001165276.1|NP_001165277.1|NP_008930.1	Q5XG87	PAPD7_HUMAN	PAP associated domain containing 7	733					double-strand break repair (GO:0006302)|mitotic chromosome condensation (GO:0007076)|response to drug (GO:0042493)|sister chromatid cohesion (GO:0007062)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|polynucleotide adenylyltransferase activity (GO:0004652)|SMC family protein binding (GO:0043221)			cervix(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(2)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						CAGCTCTGTGGGTAGCGGAGG	0.597																																					NSCLC(7;212 333 5667 23379 46547)	ENST00000230859.6																			0				cervix(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(2)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						c.(1507-1509)Ggt>Agt		PAP associated domain containing 7							34	33	33					5																	6754936		2203	4300	6503	SO:0001583	missense	11044				cell division|DNA replication|double-strand break repair|mitotic chromosome condensation|response to drug|sister chromatid cohesion	nucleus	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|SMC protein binding	g.chr5:6754936G>A	AF089896	CCDS3871.1	5p15	2010-11-18	2010-01-19	2010-01-19	ENSG00000112941	ENSG00000112941			16705	protein-coding gene	gene with protein product	"topoisomerase-related function protein 4-1", "polymerase (DNA-directed) sigma", "DNA polymerase kappa", "TUTase5"	605198	"polymerase (DNA directed) sigma"	POLS		10066793, 10926539	Standard	NM_006999		Approved	POLK, TRF4, LAK-1, TRF4-1	uc003jdx.1	Q5XG87	OTTHUMG00000090457	ENST00000230859.6:c.1507G>A	5.37:g.6754936G>A	ENSP00000230859:p.Gly503Ser						p.G503S	NM_001171805.1|NM_001171806.1|NM_006999.4	NP_001165276.1|NP_001165277.1|NP_008930.1	Q5XG87	PAPD7_HUMAN			13	1636	+			503					A8K1E2|M1JCE6|O43289|Q17RZ1|Q9Y6C1	Missense_Mutation	SNP	ENST00000230859.6	37	c.1507G>A	CCDS3871.1	.	.	.	.	.	.	.	.	.	.	G	14.63	2.593651	0.46214	.	.	ENSG00000112941	ENST00000230859	T	0.29917	1.55	4.96	4.09	0.47781	.	0.000000	0.56097	D	0.000024	T	0.16599	0.0399	N	0.19112	0.55	0.33735	D	0.618719	B;B	0.23891	0.093;0.093	B;B	0.18561	0.022;0.022	T	0.21381	-1.0247	10	0.12766	T	0.61	-6.4051	8.9969	0.36059	0.1739:0.0:0.8261:0.0	.	502;503	B7ZLL4;Q5XG87	.;PAPD7_HUMAN	S	503	ENSP00000230859:G503S	ENSP00000230859:G503S	G	+	1	0	PAPD7	6807936	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	2.689000	0.46993	1.211000	0.43351	0.655000	0.94253	GGT		0.597	PAPD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206904.1	NM_006999		9	12	0	0	0	1	0	9	12					A	6754936	G	A	6754936	3	1	435	1	0	0	0	0	1	0	0	0	11426	1232	43	3	1553	3	PAPD7	5	6754936	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	149541	6754936	174160324	2576	23501											
ADCY2	108	broad.mit.edu	37	chr5	7706925	7706925	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcattctgggaatgtcctgtGtggcgtgattggtctgcaga	6	13	15	7	1	2	2	0	1	2	1	3	3	3	3	1	3	1	2	1	3	1	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:7706925G>A	ENST00000338316.4	+	8	1267	c.1178G>A	c.(1177-1179)tGt>tAt	p.C393Y	RP11-711G10.1_ENST00000514105.2_RNA|ADCY2_ENST00000537121.1_Missense_Mutation_p.C213Y	NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)	393					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cAMP biosynthetic process (GO:0006171)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	adenylate cyclase activity (GO:0004016)|adenylate cyclase binding (GO:0008179)|ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						AATGTCCTGTGTGGCGTGATT	0.507																																						ENST00000338316.4																			0				NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						c.(1177-1179)tGt>tAt		adenylate cyclase 2 (brain)							284	248	260					5																	7706925		2203	4300	6503	SO:0001583	missense	108				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|dendrite|integral to membrane|plasma membrane	ATP binding|metal ion binding	g.chr5:7706925G>A	AB028983	CCDS3872.2	5p15.3	2013-02-04			ENSG00000078295	ENSG00000078295	4.6.1.1	"Adenylate cyclases"	233	protein-coding gene	gene with protein product		103071				1427768	Standard	NM_020546		Approved	HBAC2, KIAA1060, AC2	uc003jdz.1	Q08462	OTTHUMG00000090476	ENST00000338316.4:c.1178G>A	5.37:g.7706925G>A	ENSP00000342952:p.Cys393Tyr					ADCY2_ENST00000537121.1_Missense_Mutation_p.C213Y	p.C393Y	NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN			8	1267	+			393					B7Z2C1|Q2NKL8|Q9UDB2|Q9UPU2	Missense_Mutation	SNP	ENST00000338316.4	37	c.1178G>A	CCDS3872.2	.	.	.	.	.	.	.	.	.	.	G	16.96	3.266544	0.59540	.	.	ENSG00000078295	ENST00000338316;ENST00000541993;ENST00000537121	D;D	0.84370	-1.84;-1.84	5.29	5.29	0.74685	Adenylyl cyclase class-3/4/guanylyl cyclase (5);	0.000000	0.85682	D	0.000000	D	0.93579	0.7950	M	0.87547	2.89	0.58432	D	0.999992	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.94456	0.7672	10	0.87932	D	0	.	18.964	0.92687	0.0:0.0:1.0:0.0	.	213;393	B7Z2C1;Q08462	.;ADCY2_HUMAN	Y	393;244;213	ENSP00000342952:C393Y;ENSP00000444803:C213Y	ENSP00000342952:C393Y	C	+	2	0	ADCY2	7759925	1.000000	0.71417	0.329000	0.25429	0.128000	0.20619	9.588000	0.98232	2.480000	0.83734	0.655000	0.94253	TGT		0.507	ADCY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206930.2	NM_020546		34	73	0	0	0	1	0	34	73					A	7706925	G	A	7706925	3	1	435	1	0	0	0	0	1	0	0	0	294	1377	48	3	1208	3	ADCY2	5	7706925	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	951989	7706925	173208335	2577	23502											
ADCY2	108	broad.mit.edu	37	chr5	7826973	7826973	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtccctttcccagagcaacGtggcatcctgaagagtcacc	9	8	10	14	1	1	3	1	1	0	2	4	3	4	3	4	2	2	2	4	2	2	1	rs200555888		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:7826973G>A	ENST00000338316.4	+	25	3354	c.3265G>A	c.(3265-3267)Gtg>Atg	p.V1089M	ADCY2_ENST00000537121.1_Missense_Mutation_p.V909M	NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)	1089					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cAMP biosynthetic process (GO:0006171)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	adenylate cyclase activity (GO:0004016)|adenylate cyclase binding (GO:0008179)|ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						CCAGAGCAACGTGGCATCCTG	0.453																																						ENST00000338316.4																			0				NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						c.(3265-3267)Gtg>Atg		adenylate cyclase 2 (brain)							105	87	93					5																	7826973		2203	4300	6503	SO:0001583	missense	108				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|dendrite|integral to membrane|plasma membrane	ATP binding|metal ion binding	g.chr5:7826973G>A	AB028983	CCDS3872.2	5p15.3	2013-02-04			ENSG00000078295	ENSG00000078295	4.6.1.1	"Adenylate cyclases"	233	protein-coding gene	gene with protein product		103071				1427768	Standard	NM_020546		Approved	HBAC2, KIAA1060, AC2	uc003jdz.1	Q08462	OTTHUMG00000090476	ENST00000338316.4:c.3265G>A	5.37:g.7826973G>A	ENSP00000342952:p.Val1089Met					ADCY2_ENST00000537121.1_Missense_Mutation_p.V909M	p.V1089M	NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN			25	3354	+			1089					B7Z2C1|Q2NKL8|Q9UDB2|Q9UPU2	Missense_Mutation	SNP	ENST00000338316.4	37	c.3265G>A	CCDS3872.2	.	.	.	.	.	.	.	.	.	.	G	9.206	1.029656	0.19512	.	.	ENSG00000078295	ENST00000338316;ENST00000382532;ENST00000541993;ENST00000537121	T;D	0.82619	-1.18;-1.63	5.76	-5.23	0.02798	.	0.401382	0.24957	N	0.034249	T	0.67896	0.2942	L	0.47716	1.5	0.19945	N	0.999946	B;B	0.24483	0.104;0.051	B;B	0.17433	0.018;0.018	T	0.51679	-0.8675	10	0.36615	T	0.2	.	3.8242	0.08848	0.1673:0.3464:0.334:0.1523	.	909;1089	B7Z2C1;Q08462	.;ADCY2_HUMAN	M	1089;201;922;909	ENSP00000342952:V1089M;ENSP00000444803:V909M	ENSP00000342952:V1089M	V	+	1	0	ADCY2	7879973	0.003000	0.15002	0.057000	0.19452	0.389000	0.30415	0.165000	0.16564	-1.700000	0.01414	-0.340000	0.08031	GTG		0.453	ADCY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206930.2	NM_020546		25	41	0	0	0	1	0	25	41					A	7826973	G	A	7826973	3	1	435	1	0	0	0	0	1	0	0	0	294	1145	40	1	3363	1	ADCY2	5	7826973	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	120048	7826973	173088287	2578	23503											
SEMA5A	9037	broad.mit.edu	37	chr5	9052014	9052014	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aattagagtcaaacacacacGgccggctctccgtggtgttc	10	9	10	12	3	2	1	1	0	1	1	4	1	2	1	2	3	1	2	2	3	3	2	rs369362878		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:9052014G>A	ENST00000382496.5	-	20	3481	c.2816C>T	c.(2815-2817)cCg>cTg	p.P939L	MIR4636_ENST00000582271.1_RNA	NM_003966.2	NP_003957.2	Q13591	SEM5A_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A	939	TSP type-1 7. {ECO:0000255|PROSITE- ProRule:PRU00210}.				axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|blood vessel endothelial cell proliferation involved in sprouting angiogenesis (GO:0002043)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell-cell signaling (GO:0007267)|diencephalon development (GO:0021536)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of cell adhesion (GO:0007162)|negative regulation of endothelial cell apoptotic process (GO:2000352)|nervous system development (GO:0007399)|patterning of blood vessels (GO:0001569)|positive chemotaxis (GO:0050918)|positive regulation of actin filament depolymerization (GO:0030836)|positive regulation of angiogenesis (GO:0045766)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of protein kinase B signaling (GO:0051897)|signal clustering (GO:1990256)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	axon guidance receptor activity (GO:0008046)|chondroitin sulfate proteoglycan binding (GO:0035373)|heparan sulfate proteoglycan binding (GO:0043395)|semaphorin receptor binding (GO:0030215)|syndecan binding (GO:0045545)			biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	81						AAACACACACGGCCGGCTCTC	0.512																																						ENST00000382496.5																			0				biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	81						c.(2815-2817)cCg>cTg		sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A		G	LEU/PRO	1,4405		0,1,2202	51	53	53		2816	4.2	0.8	5		53	0,8600		0,0,4300	no	missense	SEMA5A	NM_003966.2	98	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	939/1075	9052014	1,13005	2203	4300	6503	SO:0001583	missense	9037				cell adhesion|cell-cell signaling	integral to membrane|plasma membrane		g.chr5:9052014G>A	U52840	CCDS3875.1	5p15.2	2008-05-15			ENSG00000112902	ENSG00000112902		"Semaphorins"	10736	protein-coding gene	gene with protein product		609297		SEMAF		8817451, 9464278	Standard	NM_003966		Approved	semF	uc003jek.2	Q13591	OTTHUMG00000090501	ENST00000382496.5:c.2816C>T	5.37:g.9052014G>A	ENSP00000371936:p.Pro939Leu						p.P939L	NM_003966.2	NP_003957.2	Q13591	SEM5A_HUMAN			20	3481	-			939			TSP type-1 7.		D3DTC6|O60408|Q1RLL9	Missense_Mutation	SNP	ENST00000382496.5	37	c.2816C>T	CCDS3875.1	.	.	.	.	.	.	.	.	.	.	G	14.29	2.491079	0.44249	2.27E-4	0.0	ENSG00000112902	ENST00000382496	T	0.52526	0.66	5.12	4.24	0.50183	.	0.254436	0.40640	N	0.001046	T	0.28532	0.0706	N	0.16743	0.435	0.47994	D	0.999569	P	0.39696	0.683	B	0.38428	0.273	T	0.05517	-1.0880	10	0.35671	T	0.21	.	6.7741	0.23611	0.0894:0.0:0.733:0.1776	.	939	Q13591	SEM5A_HUMAN	L	939	ENSP00000371936:P939L	ENSP00000371936:P939L	P	-	2	0	SEMA5A	9105014	1.000000	0.71417	0.826000	0.32828	0.321000	0.28281	6.404000	0.73268	1.260000	0.44134	0.655000	0.94253	CCG		0.512	SEMA5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206989.2			26	35	0	0	0	1	0	26	35					A	9052014	G	A	9052014	3	1	435	1	0	0	0	0	1	0	0	0	14037	1116	39	2	424	2	SEMA5A	5	9052014	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	1225041	9052014	171863246	2579	23504											
SEMA5A	9037	broad.mit.edu	37	chr5	9122871	9122871	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgacagaggcaggatcccaCggcgctgccatctgtgtgcg	7	7	14	13	4	1	1	0	0	1	1	3	3	2	2	2	3	2	2	2	3	0	0	rs200629661		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:9122871C>T	ENST00000382496.5	-	14	2343	c.1678G>A	c.(1678-1680)Gtg>Atg	p.V560M		NM_003966.2	NP_003957.2	Q13591	SEM5A_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A	560	TSP type-1 1. {ECO:0000255|PROSITE- ProRule:PRU00210}.				axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|blood vessel endothelial cell proliferation involved in sprouting angiogenesis (GO:0002043)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell-cell signaling (GO:0007267)|diencephalon development (GO:0021536)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of cell adhesion (GO:0007162)|negative regulation of endothelial cell apoptotic process (GO:2000352)|nervous system development (GO:0007399)|patterning of blood vessels (GO:0001569)|positive chemotaxis (GO:0050918)|positive regulation of actin filament depolymerization (GO:0030836)|positive regulation of angiogenesis (GO:0045766)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of protein kinase B signaling (GO:0051897)|signal clustering (GO:1990256)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	axon guidance receptor activity (GO:0008046)|chondroitin sulfate proteoglycan binding (GO:0035373)|heparan sulfate proteoglycan binding (GO:0043395)|semaphorin receptor binding (GO:0030215)|syndecan binding (GO:0045545)			biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	81						CAGGATCCCACGGCGCTGCCA	0.632													C|||	1	0.000199681	0	0	5008	,	,		12547	0.001		0	False		,,,				2504	0					ENST00000382496.5																			0				biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	81						c.(1678-1680)Gtg>Atg		sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A							59	61	60					5																	9122871		2203	4300	6503	SO:0001583	missense	9037				cell adhesion|cell-cell signaling	integral to membrane|plasma membrane		g.chr5:9122871C>T	U52840	CCDS3875.1	5p15.2	2008-05-15			ENSG00000112902	ENSG00000112902		"Semaphorins"	10736	protein-coding gene	gene with protein product		609297		SEMAF		8817451, 9464278	Standard	NM_003966		Approved	semF	uc003jek.2	Q13591	OTTHUMG00000090501	ENST00000382496.5:c.1678G>A	5.37:g.9122871C>T	ENSP00000371936:p.Val560Met						p.V560M	NM_003966.2	NP_003957.2	Q13591	SEM5A_HUMAN			14	2343	-			560			TSP type-1 1.		D3DTC6|O60408|Q1RLL9	Missense_Mutation	SNP	ENST00000382496.5	37	c.1678G>A	CCDS3875.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	11.54	1.670303	0.29693	.	.	ENSG00000112902	ENST00000382496	T	0.36520	1.25	4.95	4.06	0.47325	.	0.424528	0.25264	N	0.031933	T	0.35828	0.0945	L	0.58510	1.815	0.30660	N	0.754522	P	0.34662	0.462	B	0.36766	0.232	T	0.39313	-0.9620	10	0.39692	T	0.17	.	11.4647	0.50232	0.0:0.818:0.182:0.0	.	560	Q13591	SEM5A_HUMAN	M	560	ENSP00000371936:V560M	ENSP00000371936:V560M	V	-	1	0	SEMA5A	9175871	0.001000	0.12720	0.678000	0.29963	0.265000	0.26407	0.627000	0.24506	1.176000	0.42840	0.650000	0.86243	GTG		0.632	SEMA5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206989.2			4	50	0	0	0	1	0	4	50					T	9122871	C	T	9122871	3	4	435	1	0	0	0	0	1	0	0	0	14037	536	19	1	1586	1	SEMA5A	5	9122871	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	70857	9122871	171792389	2580	23505											
SEMA5A	9037	broad.mit.edu	37	chr5	9224815	9224815	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atttggagttgtactgcgccGtgcggagaggaggtaaaatg	10	10	16	5	3	0	1	0	0	0	1	0	4	0	3	1	4	3	3	1	4	3	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:9224815G>A	ENST00000382496.5	-	8	1282	c.617C>T	c.(616-618)aCg>aTg	p.T206M		NM_003966.2	NP_003957.2	Q13591	SEM5A_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A	206	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|blood vessel endothelial cell proliferation involved in sprouting angiogenesis (GO:0002043)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell-cell signaling (GO:0007267)|diencephalon development (GO:0021536)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of cell adhesion (GO:0007162)|negative regulation of endothelial cell apoptotic process (GO:2000352)|nervous system development (GO:0007399)|patterning of blood vessels (GO:0001569)|positive chemotaxis (GO:0050918)|positive regulation of actin filament depolymerization (GO:0030836)|positive regulation of angiogenesis (GO:0045766)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of protein kinase B signaling (GO:0051897)|signal clustering (GO:1990256)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	axon guidance receptor activity (GO:0008046)|chondroitin sulfate proteoglycan binding (GO:0035373)|heparan sulfate proteoglycan binding (GO:0043395)|semaphorin receptor binding (GO:0030215)|syndecan binding (GO:0045545)			biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	81						GTACTGCGCCGTGCGGAGAGG	0.512																																						ENST00000382496.5																			0				biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	81						c.(616-618)aCg>aTg		sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A							120	101	107					5																	9224815		2203	4300	6503	SO:0001583	missense	9037				cell adhesion|cell-cell signaling	integral to membrane|plasma membrane		g.chr5:9224815G>A	U52840	CCDS3875.1	5p15.2	2008-05-15			ENSG00000112902	ENSG00000112902		"Semaphorins"	10736	protein-coding gene	gene with protein product		609297		SEMAF		8817451, 9464278	Standard	NM_003966		Approved	semF	uc003jek.2	Q13591	OTTHUMG00000090501	ENST00000382496.5:c.617C>T	5.37:g.9224815G>A	ENSP00000371936:p.Thr206Met						p.T206M	NM_003966.2	NP_003957.2	Q13591	SEM5A_HUMAN			8	1282	-			206			Sema.		D3DTC6|O60408|Q1RLL9	Missense_Mutation	SNP	ENST00000382496.5	37	c.617C>T	CCDS3875.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.012069	0.75046	.	.	ENSG00000112902	ENST00000382496;ENST00000513968	T;T	0.29397	1.57;1.57	5.38	5.38	0.77491	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.000000	0.85682	D	0.000000	T	0.69106	0.3074	H	0.96398	3.815	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.79976	-0.1576	10	0.87932	D	0	.	16.6453	0.85175	0.0:0.0:1.0:0.0	.	206	Q13591	SEM5A_HUMAN	M	206	ENSP00000371936:T206M;ENSP00000421961:T206M	ENSP00000371936:T206M	T	-	2	0	SEMA5A	9277815	1.000000	0.71417	0.193000	0.23327	0.674000	0.39518	9.158000	0.94723	2.520000	0.84964	0.650000	0.86243	ACG		0.512	SEMA5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206989.2			11	12	0	0	0	1	0	11	12					A	9224815	G	A	9224815	3	1	435	1	0	0	0	0	1	0	0	0	14037	1145	40	1	2671	1	SEMA5A	5	9224815	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	101944	9224815	171690445	2581	23506											
CTNND2	1501	broad.mit.edu	37	chr5	11022936	11022936	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctcgatgccaccggcatcccGtaaggccttggcgttctcca	6	9	10	16	4	1	0	0	0	1	0	4	1	2	0	5	3	1	3	5	3	1	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:11022936G>A	ENST00000304623.8	-	17	3133	c.2944C>T	c.(2944-2946)Cgg>Tgg	p.R982W	CTNND2_ENST00000511377.1_Missense_Mutation_p.R891W|CTNND2_ENST00000458100.2_Missense_Mutation_p.R549W|CTNND2_ENST00000503622.1_Missense_Mutation_p.R645W|CTNND2_ENST00000359640.2_Missense_Mutation_p.R924W|CTNND2_ENST00000495388.2_5'UTR	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	982					cell adhesion (GO:0007155)|learning (GO:0007612)|morphogenesis of a branching structure (GO:0001763)|multicellular organismal development (GO:0007275)|regulation of synaptic plasticity (GO:0048167)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						CCGGCATCCCGTAAGGCCTTG	0.507																																						ENST00000304623.8																			0				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						c.(2944-2946)Cgg>Tgg		catenin (cadherin-associated protein), delta 2							200	154	169					5																	11022936		2203	4300	6503	SO:0001583	missense	1501				multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding	g.chr5:11022936G>A	U52828	CCDS3881.1, CCDS75227.1, CCDS75228.1	5p15.2	2013-02-14	2012-08-15		ENSG00000169862	ENSG00000169862		"Armadillo repeat containing"	2516	protein-coding gene	gene with protein product	"neural plakophilin-related arm-repeat protein"	604275	"catenin (cadherin-associated protein), delta 2 (neural plakophilin-related arm-repeat protein)"			9342840, 9223106	Standard	XM_005248251		Approved	NPRAP, GT24	uc003jfa.1	Q9UQB3	OTTHUMG00000090511	ENST00000304623.8:c.2944C>T	5.37:g.11022936G>A	ENSP00000307134:p.Arg982Trp					CTNND2_ENST00000359640.2_Missense_Mutation_p.R924W|CTNND2_ENST00000503622.1_Missense_Mutation_p.R645W|CTNND2_ENST00000458100.2_Missense_Mutation_p.R549W|CTNND2_ENST00000495388.2_5'UTR|CTNND2_ENST00000511377.1_Missense_Mutation_p.R891W	p.R982W	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN			17	3133	-			982					B0FTZ7|O00379|O15390|O43206|O43840|Q13589|Q9UM66|Q9UPM3	Missense_Mutation	SNP	ENST00000304623.8	37	c.2944C>T	CCDS3881.1	.	.	.	.	.	.	.	.	.	.	G	19.17	3.774900	0.70107	.	.	ENSG00000169862	ENST00000304623;ENST00000359640;ENST00000511377;ENST00000538638;ENST00000458100;ENST00000503622	T;T;T;T;T	0.50813	0.73;0.73;0.73;0.73;0.73	5.64	4.76	0.60689	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.67050	0.2852	M	0.65975	2.015	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.77557	0.99;0.99;0.988	T	0.70985	-0.4723	10	0.66056	D	0.02	-23.3082	15.8986	0.79356	0.0:0.0:0.8635:0.1365	.	645;574;982	B4DRK2;B4DG58;Q9UQB3	.;.;CTND2_HUMAN	W	982;924;891;77;549;645	ENSP00000307134:R982W;ENSP00000352661:R924W;ENSP00000426510:R891W;ENSP00000391155:R549W;ENSP00000426887:R645W	ENSP00000307134:R982W	R	-	1	2	CTNND2	11075936	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.441000	0.44864	1.364000	0.46038	0.655000	0.94253	CGG		0.507	CTNND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206999.1	NM_001332		22	37	0	0	0	1	0	22	37					A	11022936	G	A	11022936	3	1	435	1	0	0	0	0	1	0	0	0	4020	1144	40	1	757	1	CTNND2	5	11022936	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	1798121	11022936	169892324	2582	23507											
CTNND2	1501	broad.mit.edu	37	chr5	11364876	11364876	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctggctctggctgagactcCtcatagggggcttctgatag	6	11	13	11	0	3	2	1	2	2	1	4	3	4	2	2	4	0	3	2	4	2	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:11364876C>T	ENST00000304623.8	-	8	1493	c.1304G>A	c.(1303-1305)aGg>aAg	p.R435K	CTNND2_ENST00000511377.1_Missense_Mutation_p.R344K|CTNND2_ENST00000458100.2_Missense_Mutation_p.R2K|CTNND2_ENST00000503622.1_Missense_Mutation_p.R98K|CTNND2_ENST00000359640.2_Missense_Mutation_p.R435K|CTNND2_ENST00000495388.2_5'UTR	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	435					cell adhesion (GO:0007155)|learning (GO:0007612)|morphogenesis of a branching structure (GO:0001763)|multicellular organismal development (GO:0007275)|regulation of synaptic plasticity (GO:0048167)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						GCTGAGACTCCTCATAGGGGG	0.627																																						ENST00000304623.8																			0				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						c.(1303-1305)aGg>aAg		catenin (cadherin-associated protein), delta 2							44	48	47					5																	11364876		2203	4300	6503	SO:0001583	missense	1501				multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding	g.chr5:11364876C>T	U52828	CCDS3881.1, CCDS75227.1, CCDS75228.1	5p15.2	2013-02-14	2012-08-15		ENSG00000169862	ENSG00000169862		"Armadillo repeat containing"	2516	protein-coding gene	gene with protein product	"neural plakophilin-related arm-repeat protein"	604275	"catenin (cadherin-associated protein), delta 2 (neural plakophilin-related arm-repeat protein)"			9342840, 9223106	Standard	XM_005248251		Approved	NPRAP, GT24	uc003jfa.1	Q9UQB3	OTTHUMG00000090511	ENST00000304623.8:c.1304G>A	5.37:g.11364876C>T	ENSP00000307134:p.Arg435Lys					CTNND2_ENST00000359640.2_Missense_Mutation_p.R435K|CTNND2_ENST00000503622.1_Missense_Mutation_p.R98K|CTNND2_ENST00000458100.2_Missense_Mutation_p.R2K|CTNND2_ENST00000495388.2_5'UTR|CTNND2_ENST00000511377.1_Missense_Mutation_p.R344K	p.R435K	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN			8	1493	-			435					B0FTZ7|O00379|O15390|O43206|O43840|Q13589|Q9UM66|Q9UPM3	Missense_Mutation	SNP	ENST00000304623.8	37	c.1304G>A	CCDS3881.1	.	.	.	.	.	.	.	.	.	.	C	33	5.207920	0.95033	.	.	ENSG00000169862	ENST00000304623;ENST00000359640;ENST00000511377;ENST00000458100;ENST00000503622;ENST00000502551	T;T;T;T;T	0.80480	-1.27;-1.38;-1.29;-1.37;-1.3	5.47	5.47	0.80525	.	0.065514	0.56097	D	0.000026	D	0.87767	0.6260	L	0.55990	1.75	0.39252	D	0.964058	P;P;D	0.64830	0.956;0.841;0.994	D;P;D	0.70716	0.931;0.745;0.97	D	0.88018	0.2767	10	0.49607	T	0.09	-15.6147	19.3321	0.94295	0.0:1.0:0.0:0.0	.	98;2;435	B4DRK2;B4DG58;Q9UQB3	.;.;CTND2_HUMAN	K	435;435;344;2;98;175	ENSP00000307134:R435K;ENSP00000352661:R435K;ENSP00000426510:R344K;ENSP00000391155:R2K;ENSP00000426887:R98K	ENSP00000307134:R435K	R	-	2	0	CTNND2	11417876	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.487000	0.81328	2.581000	0.87130	0.655000	0.94253	AGG		0.627	CTNND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206999.1	NM_001332		5	19	0	0	0	1	0	5	19					T	11364876	C	T	11364876	3	4	435	1	0	0	0	0	1	0	0	0	4020	681	24	3	2433	3	CTNND2	5	11364876	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	341940	11364876	169550384	2583	23508											
DNAH5	1767	broad.mit.edu	37	chr5	13824306	13824306	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cacttccatctgtgagtcttAccagtttagaaagattcatg	11	14	7	9	0	3	3	1	1	2	2	4	3	4	3	2	0	1	1	2	0	3	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:13824306A>G	ENST00000265104.4	-	39	6684		c.e39+1			NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5						cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TGTGAGTCTTACCAGTTTAGA	0.398									Kartagener syndrome																													ENST00000265104.4																			0				NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378						c.e39+1		dynein, axonemal, heavy chain 5							112	98	103					5																	13824306		2203	4300	6503	SO:0001630	splice_region_variant	1767	Kartagener syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr5:13824306A>G	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"Axonemal dyneins"	2950	protein-coding gene	gene with protein product	"dynein heavy chain 5"	603335	"dynein, axonemal, heavy polypeptide 5"			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.6579+1T>C	5.37:g.13824306A>G								NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN			39	6684	-	Lung NSC(4;0.00476)							Q92860|Q96L74|Q9H5S7|Q9HCG9	Splice_Site	SNP	ENST00000265104.4	37		CCDS3882.1	.	.	.	.	.	.	.	.	.	.	A	21.1	4.090333	0.76756	.	.	ENSG00000039139	ENST00000265104	.	.	.	5.43	5.43	0.79202	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.7637	0.78106	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	DNAH5	13877306	1.000000	0.71417	0.929000	0.37066	0.701000	0.40568	9.287000	0.95975	2.178000	0.69098	0.528000	0.53228	.		0.398	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369	Intron	10	34	0	0	0	1	0	10	34					G	13824306	A	G	13824306	5	3	435	1	0	0	0	0	0	0	1	0	4604	405	14	4	7457	4	DNAH5	5	13824306	Splice_Site	SNP	A	TCGA-XK-AAIW-01A-11D-A41K-08	2459430	13824306	167090954	2584	23509											
DNAH5	1767	broad.mit.edu	37	chr5	13841205	13841205	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	taagggcttcttctgaatccCgtgtccatatcatctgaatt	9	15	7	10	1	4	2	1	2	3	0	6	2	6	2	2	1	0	1	2	1	4	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:13841205C>T	ENST00000265104.4	-	34	5623	c.5519G>A	c.(5518-5520)cGg>cAg	p.R1840Q		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	1840	Stem. {ECO:0000250}.				cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TTCTGAATCCCGTGTCCATAT	0.328									Kartagener syndrome																													ENST00000265104.4																			0				NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378						c.(5518-5520)cGg>cAg		dynein, axonemal, heavy chain 5							110	108	108					5																	13841205		2203	4300	6503	SO:0001583	missense	1767	Kartagener syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr5:13841205C>T	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"Axonemal dyneins"	2950	protein-coding gene	gene with protein product	"dynein heavy chain 5"	603335	"dynein, axonemal, heavy polypeptide 5"			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.5519G>A	5.37:g.13841205C>T	ENSP00000265104:p.Arg1840Gln						p.R1840Q	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN			34	5623	-	Lung NSC(4;0.00476)		1840			Stem (By similarity).		Q92860|Q96L74|Q9H5S7|Q9HCG9	Missense_Mutation	SNP	ENST00000265104.4	37	c.5519G>A	CCDS3882.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.124370	0.77436	.	.	ENSG00000039139	ENST00000265104	T	0.23754	1.89	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	T	0.29749	0.0743	M	0.74467	2.265	0.58432	D	0.999995	P	0.44090	0.826	B	0.33121	0.158	T	0.16748	-1.0392	10	0.35671	T	0.21	.	18.9863	0.92771	0.0:1.0:0.0:0.0	.	1840	Q8TE73	DYH5_HUMAN	Q	1840	ENSP00000265104:R1840Q	ENSP00000265104:R1840Q	R	-	2	0	DNAH5	13894205	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.728000	0.62000	2.729000	0.93468	0.655000	0.94253	CGG		0.328	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369		27	47	0	0	0	1	0	27	47					T	13841205	C	T	13841205	3	4	435	1	0	0	0	0	1	0	0	0	4604	652	23	2	8539	2	DNAH5	5	13841205	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	16899	13841205	167074055	2585	23510											
DNAH5	1767	broad.mit.edu	37	chr5	13841860	13841860	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acctgtttcttgaatatttgCggctgcctggcgaatcacaa	9	13	9	10	2	2	1	1	1	1	0	2	2	2	1	2	2	2	2	2	2	4	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:13841860C>T	ENST00000265104.4	-	33	5529	c.5425G>A	c.(5425-5427)Gca>Aca	p.A1809T		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	1809	Stem. {ECO:0000250}.				cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TGAATATTTGCGGCTGCCTGG	0.398									Kartagener syndrome																													ENST00000265104.4																			0				NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378						c.(5425-5427)Gca>Aca		dynein, axonemal, heavy chain 5							99	99	99					5																	13841860		2203	4300	6503	SO:0001583	missense	1767	Kartagener syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr5:13841860C>T	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"Axonemal dyneins"	2950	protein-coding gene	gene with protein product	"dynein heavy chain 5"	603335	"dynein, axonemal, heavy polypeptide 5"			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.5425G>A	5.37:g.13841860C>T	ENSP00000265104:p.Ala1809Thr						p.A1809T	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN			33	5529	-	Lung NSC(4;0.00476)		1809			Stem (By similarity).		Q92860|Q96L74|Q9H5S7|Q9HCG9	Missense_Mutation	SNP	ENST00000265104.4	37	c.5425G>A	CCDS3882.1	.	.	.	.	.	.	.	.	.	.	C	2.874	-0.233335	0.05983	.	.	ENSG00000039139	ENST00000265104	T	0.60920	0.15	5.92	0.606	0.17559	Dynein heavy chain, domain-2 (1);	0.987980	0.08273	N	0.971213	T	0.37758	0.1015	N	0.21373	0.66	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.21793	-1.0235	10	0.21540	T	0.41	.	4.8775	0.13664	0.1409:0.4334:0.0:0.4257	.	1809	Q8TE73	DYH5_HUMAN	T	1809	ENSP00000265104:A1809T	ENSP00000265104:A1809T	A	-	1	0	DNAH5	13894860	0.000000	0.05858	0.638000	0.29380	0.044000	0.14063	-0.159000	0.10056	0.421000	0.25980	-0.880000	0.02959	GCA		0.398	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369		30	33	0	0	0	1	0	30	33					T	13841860	C	T	13841860	3	4	435	1	0	0	0	0	1	0	0	0	4604	768	27	1	8637	1	DNAH5	5	13841860	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	655	13841860	167073400	2586	23511											
TRIO	7204	broad.mit.edu	37	chr5	14286996	14286996	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcagcgaggaggtctgcaagCgtggcttcacggtgatcgtg	7	8	17	9	4	2	1	1	1	1	0	3	3	2	2	0	4	3	3	0	4	1	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:14286996C>T	ENST00000344204.4	+	4	388	c.364C>T	c.(364-366)Cgt>Tgt	p.R122C	TRIO_ENST00000537187.1_Missense_Mutation_p.R122C|TRIO_ENST00000509967.2_Missense_Mutation_p.R73C	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	122	CRAL-TRIO. {ECO:0000255|PROSITE- ProRule:PRU00056}.				apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	cytosol (GO:0005829)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					GGTCTGCAAGCGTGGCTTCAC	0.572																																						ENST00000344204.4																			0				NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118						c.(364-366)Cgt>Tgt		trio Rho guanine nucleotide exchange factor							104	90	95					5																	14286996		2203	4300	6503	SO:0001583	missense	7204				apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity	g.chr5:14286996C>T	AF091395	CCDS3883.1	5p14-p15.1	2013-01-11	2012-07-12		ENSG00000038382	ENSG00000038382		"Rho guanine nucleotide exchange factors", "Immunoglobulin superfamily / I-set domain containing"	12303	protein-coding gene	gene with protein product		601893	"triple functional domain (PTPRF interacting)"			8643598	Standard	NM_007118		Approved	ARHGEF23	uc003jff.3	O75962	OTTHUMG00000131057	ENST00000344204.4:c.364C>T	5.37:g.14286996C>T	ENSP00000339299:p.Arg122Cys					TRIO_ENST00000537187.1_Missense_Mutation_p.R122C|TRIO_ENST00000509967.2_Missense_Mutation_p.R73C	p.R122C	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN			4	388	+	Lung NSC(4;0.000742)		122			CRAL-TRIO.		D3DTD1|Q13458|Q59EQ7|Q6PJC9|Q6ZN05|Q8IWK8	Missense_Mutation	SNP	ENST00000344204.4	37	c.364C>T	CCDS3883.1	.	.	.	.	.	.	.	.	.	.	C	17.95	3.513937	0.64522	.	.	ENSG00000038382	ENST00000344204;ENST00000537187;ENST00000509967	T;T;T	0.63913	-0.07;-0.07;-0.07	5.55	5.55	0.83447	Cellular retinaldehyde-binding/triple function, C-terminal (4);	0.068078	0.64402	D	0.000010	T	0.74053	0.3666	L	0.57536	1.79	0.58432	D	0.999998	D;D	0.67145	0.996;0.994	D;P	0.63033	0.91;0.765	T	0.74876	-0.3515	10	0.54805	T	0.06	.	15.8591	0.79009	0.136:0.864:0.0:0.0	.	73;122	F5H228;O75962	.;TRIO_HUMAN	C	122;122;73	ENSP00000339299:R122C;ENSP00000446348:R122C;ENSP00000445592:R73C	ENSP00000339299:R122C	R	+	1	0	TRIO	14339996	1.000000	0.71417	0.999000	0.59377	0.967000	0.64934	3.920000	0.56446	2.616000	0.88540	0.585000	0.79938	CGT		0.572	TRIO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253711.2	NM_007118		16	35	0	0	0	1	0	16	35					T	14286996	C	T	14286996	3	4	435	1	0	0	0	0	1	0	0	0	16549	768	27	1	378	1	TRIO	5	14286996	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	445136	14286996	166628264	2587	23512											
TRIO	7204	broad.mit.edu	37	chr5	14287024	14287024	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacggtgatcgtggacatgcGtgggtccaagtgggactcca	8	8	15	10	3	0	1	0	1	0	0	3	3	2	3	2	4	1	0	2	4	1	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:14287024G>A	ENST00000344204.4	+	4	416	c.392G>A	c.(391-393)cGt>cAt	p.R131H	TRIO_ENST00000537187.1_Missense_Mutation_p.R131H|TRIO_ENST00000509967.2_Missense_Mutation_p.R82H	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	131	CRAL-TRIO. {ECO:0000255|PROSITE- ProRule:PRU00056}.				apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	cytosol (GO:0005829)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					GTGGACATGCGTGGGTCCAAG	0.557																																						ENST00000344204.4																			0				NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118						c.(391-393)cGt>cAt		trio Rho guanine nucleotide exchange factor							110	98	102					5																	14287024		2203	4300	6503	SO:0001583	missense	7204				apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity	g.chr5:14287024G>A	AF091395	CCDS3883.1	5p14-p15.1	2013-01-11	2012-07-12		ENSG00000038382	ENSG00000038382		"Rho guanine nucleotide exchange factors", "Immunoglobulin superfamily / I-set domain containing"	12303	protein-coding gene	gene with protein product		601893	"triple functional domain (PTPRF interacting)"			8643598	Standard	NM_007118		Approved	ARHGEF23	uc003jff.3	O75962	OTTHUMG00000131057	ENST00000344204.4:c.392G>A	5.37:g.14287024G>A	ENSP00000339299:p.Arg131His					TRIO_ENST00000537187.1_Missense_Mutation_p.R131H|TRIO_ENST00000509967.2_Missense_Mutation_p.R82H	p.R131H	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN			4	416	+	Lung NSC(4;0.000742)		131			CRAL-TRIO.		D3DTD1|Q13458|Q59EQ7|Q6PJC9|Q6ZN05|Q8IWK8	Missense_Mutation	SNP	ENST00000344204.4	37	c.392G>A	CCDS3883.1	.	.	.	.	.	.	.	.	.	.	G	26.2	4.712692	0.89112	.	.	ENSG00000038382	ENST00000344204;ENST00000537187;ENST00000509967	T;T;T	0.63096	-0.02;-0.02;-0.02	5.55	5.55	0.83447	Cellular retinaldehyde-binding/triple function, C-terminal (4);	0.000000	0.85682	D	0.000000	D	0.84388	0.5461	M	0.91972	3.26	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.997	D	0.87501	0.2433	10	0.87932	D	0	.	19.505	0.95111	0.0:0.0:1.0:0.0	.	82;131	F5H228;O75962	.;TRIO_HUMAN	H	131;131;82	ENSP00000339299:R131H;ENSP00000446348:R131H;ENSP00000445592:R82H	ENSP00000339299:R131H	R	+	2	0	TRIO	14340024	1.000000	0.71417	0.966000	0.40874	0.932000	0.56968	9.869000	0.99810	2.616000	0.88540	0.585000	0.79938	CGT		0.557	TRIO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253711.2	NM_007118		32	40	0	0	0	1	0	32	40					A	14287024	G	A	14287024	3	1	435	1	0	0	0	0	1	0	0	0	16549	1145	40	1	406	1	TRIO	5	14287024	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	28	14287024	166628236	2588	23513											
TRIO	7204	broad.mit.edu	37	chr5	14482807	14482807	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atcttcctctttgagcagatCgtcatattcagcgaaccact	10	13	6	12	2	4	2	2	1	2	1	6	3	5	2	2	0	3	1	2	0	2	4	rs139448086		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:14482807C>T	ENST00000344204.4	+	46	6606	c.6582C>T	c.(6580-6582)atC>atT	p.I2194I	TRIO_ENST00000537187.1_Silent_p.I2194I	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	2194	PH 2. {ECO:0000255|PROSITE- ProRule:PRU00145}.				apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	cytosol (GO:0005829)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					TTGAGCAGATCGTCATATTCA	0.478																																						ENST00000344204.4																			0				NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118						c.(6580-6582)atC>atT		trio Rho guanine nucleotide exchange factor		C		0,4406		0,0,2203	124	119	121		6582	-5.3	0.9	5	dbSNP_134	121	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	TRIO	NM_007118.2		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		2194/3098	14482807	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	7204				apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity	g.chr5:14482807C>T	AF091395	CCDS3883.1	5p14-p15.1	2013-01-11	2012-07-12		ENSG00000038382	ENSG00000038382		"Rho guanine nucleotide exchange factors", "Immunoglobulin superfamily / I-set domain containing"	12303	protein-coding gene	gene with protein product		601893	"triple functional domain (PTPRF interacting)"			8643598	Standard	NM_007118		Approved	ARHGEF23	uc003jff.3	O75962	OTTHUMG00000131057	ENST00000344204.4:c.6582C>T	5.37:g.14482807C>T						TRIO_ENST00000537187.1_Silent_p.I2194I	p.I2194I	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN			46	6606	+	Lung NSC(4;0.000742)		2194			PH 2.		D3DTD1|Q13458|Q59EQ7|Q6PJC9|Q6ZN05|Q8IWK8	Silent	SNP	ENST00000344204.4	37	c.6582C>T	CCDS3883.1																																																																																				0.478	TRIO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253711.2	NM_007118		31	49	0	0	0	1	0	31	49					T	14482807	C	T	14482807	2	4	435	1	0	0	0	0	0	0	0	1	16549	874	31	2		2	TRIO	5	14482807	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	195783	14482807	166432453	2589	23514											
TRIO	7204	broad.mit.edu	37	chr5	14492825	14492825	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atgtttctggtgttccgagcCgccactgaccagtgccccgc	5	10	11	15	3	1	1	0	1	1	0	2	2	2	1	6	1	2	2	6	1	0	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:14492825C>T	ENST00000344204.4	+	49	7806	c.7782C>T	c.(7780-7782)gcC>gcT	p.A2594A	TRIO_ENST00000537187.1_Silent_p.A2418A|TRIO_ENST00000344135.5_Silent_p.A93A	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	2594	SH3 2. {ECO:0000255|PROSITE- ProRule:PRU00192}.				apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	cytosol (GO:0005829)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					TGTTCCGAGCCGCCACTGACC	0.567																																						ENST00000344204.4																			0				NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118						c.(7780-7782)gcC>gcT		trio Rho guanine nucleotide exchange factor							57	48	51					5																	14492825		2203	4300	6503	SO:0001819	synonymous_variant	7204				apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity	g.chr5:14492825C>T	AF091395	CCDS3883.1	5p14-p15.1	2013-01-11	2012-07-12		ENSG00000038382	ENSG00000038382		"Rho guanine nucleotide exchange factors", "Immunoglobulin superfamily / I-set domain containing"	12303	protein-coding gene	gene with protein product		601893	"triple functional domain (PTPRF interacting)"			8643598	Standard	NM_007118		Approved	ARHGEF23	uc003jff.3	O75962	OTTHUMG00000131057	ENST00000344204.4:c.7782C>T	5.37:g.14492825C>T						TRIO_ENST00000344135.5_Silent_p.A93A|TRIO_ENST00000537187.1_Silent_p.A2418A	p.A2594A	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN			49	7806	+	Lung NSC(4;0.000742)		2594			SH3 2.		D3DTD1|Q13458|Q59EQ7|Q6PJC9|Q6ZN05|Q8IWK8	Silent	SNP	ENST00000344204.4	37	c.7782C>T	CCDS3883.1																																																																																				0.567	TRIO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253711.2	NM_007118		14	14	0	0	0	1	0	14	14					T	14492825	C	T	14492825	2	4	435	1	0	0	0	0	0	0	0	1	16549	639	23	2		2	TRIO	5	14492825	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	10018	14492825	166422435	2590	23515											
ANKH	56172	broad.mit.edu	37	chr5	14769120	14769120	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gacggcagcgatggcccctgCcaccaccatacacaggacgg	10	3	12	16	3	0	0	0	0	0	0	0	3	0	1	5	4	3	1	5	4	1	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:14769120C>T	ENST00000284268.6	-	2	607	c.277G>A	c.(277-279)Gca>Aca	p.A93T		NM_054027.4	NP_473368.1	Q9HCJ1	ANKH_HUMAN	ANKH inorganic pyrophosphate transport regulator	93					locomotory behavior (GO:0007626)|regulation of bone mineralization (GO:0030500)|skeletal system development (GO:0001501)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|outer membrane (GO:0019867)|plasma membrane (GO:0005886)	inorganic diphosphate transmembrane transporter activity (GO:0030504)|inorganic phosphate transmembrane transporter activity (GO:0005315)|phosphate ion transmembrane transporter activity (GO:0015114)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	29						ATGGCCCCTGCCACCACCATA	0.512																																						ENST00000284268.6																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	29						c.(277-279)Gca>Aca		ANKH inorganic pyrophosphate transport regulator							87	83	84					5																	14769120		2203	4300	6503	SO:0001583	missense	56172				locomotory behavior|regulation of bone mineralization|skeletal system development	integral to plasma membrane|outer membrane	inorganic diphosphate transmembrane transporter activity|inorganic phosphate transmembrane transporter activity	g.chr5:14769120C>T	AF274753	CCDS3885.1	5p15.2	2013-06-19	2013-06-19		ENSG00000154122	ENSG00000154122			15492	protein-coding gene	gene with protein product		605145	"ankylosis, progressive (mouse) homolog", "craniometaphyseal dysplasia, Jackson type (dominant)", "ankylosis, progressive homolog (mouse)"	CCAL2, CMDJ		10894769, 12297989, 11326338	Standard	NM_054027		Approved	HANK, ANK, CPPDD	uc003jfm.4	Q9HCJ1	OTTHUMG00000090539	ENST00000284268.6:c.277G>A	5.37:g.14769120C>T	ENSP00000284268:p.Ala93Thr						p.A93T	NM_054027.4	NP_473368.1	Q9HCJ1	ANKH_HUMAN			2	607	-			93					B2RCA7|B3KMG4|D3DTD4|Q9NQW2	Missense_Mutation	SNP	ENST00000284268.6	37	c.277G>A	CCDS3885.1	.	.	.	.	.	.	.	.	.	.	C	27.7	4.856550	0.91355	.	.	ENSG00000154122	ENST00000284268	D	0.95885	-3.84	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	D	0.97139	0.9065	L	0.59436	1.845	0.80722	D	1	D	0.69078	0.997	D	0.83275	0.996	D	0.97320	0.9943	10	0.56958	D	0.05	-31.3956	18.4196	0.90586	0.0:1.0:0.0:0.0	.	93	Q9HCJ1	ANKH_HUMAN	T	93	ENSP00000284268:A93T	ENSP00000284268:A93T	A	-	1	0	ANKH	14822120	1.000000	0.71417	0.999000	0.59377	0.714000	0.41099	7.818000	0.86416	2.588000	0.87417	0.650000	0.86243	GCA		0.512	ANKH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207063.1	NM_054027		14	24	0	0	0	1	0	14	24					T	14769120	C	T	14769120	3	4	435	1	0	0	0	0	1	0	0	0	627	739	26	3	1245	3	ANKH	5	14769120	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	276295	14769120	166146140	2591	23516											
FBXL7	23194	broad.mit.edu	37	chr5	15936658	15936658	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catccgctacctggacatgaCggactgcttcgtgctggagg	7	9	13	12	3	0	1	0	1	0	0	2	4	1	4	2	4	3	3	2	4	1	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:15936658C>T	ENST00000504595.1	+	4	1320	c.839C>T	c.(838-840)aCg>aTg	p.T280M	MIR887_ENST00000401258.1_RNA|FBXL7_ENST00000510662.1_Missense_Mutation_p.T233M|FBXL7_ENST00000329673.7_Missense_Mutation_p.T268M	NM_001278317.1|NM_012304.3	NP_001265246.1|NP_036436.1	Q9UJT9	FBXL7_HUMAN	F-box and leucine-rich repeat protein 7	280					cell proliferation (GO:0008283)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic nuclear division (GO:0007067)|protein ubiquitination (GO:0016567)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|ubiquitin-dependent protein catabolic process (GO:0006511)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|SCF ubiquitin ligase complex (GO:0019005)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(13)|lung(33)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	60						CTGGACATGACGGACTGCTTC	0.612																																						ENST00000504595.1																			0				cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(13)|lung(33)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	60						c.(838-840)aCg>aTg		F-box and leucine-rich repeat protein 7							71	72	72					5																	15936658		2183	4287	6470	SO:0001583	missense	23194				ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity	g.chr5:15936658C>T	AB020647	CCDS54833.1, CCDS64129.1	5p15.1	2011-06-09				ENSG00000183580		"F-boxes / Leucine-rich repeats"	13604	protein-coding gene	gene with protein product		605656				10048485, 10531035	Standard	NM_012304		Approved	KIAA0840, FBL7, FBL6	uc003jfn.1	Q9UJT9		ENST00000504595.1:c.839C>T	5.37:g.15936658C>T	ENSP00000423630:p.Thr280Met					FBXL7_ENST00000329673.7_Missense_Mutation_p.T268M|FBXL7_ENST00000510662.1_Missense_Mutation_p.T233M	p.T280M	NM_001278317.1|NM_012304.3	NP_001265246.1|NP_036436.1	Q9UJT9	FBXL7_HUMAN			4	1320	+			280					B9EGF1|D6RDY7|O94926	Missense_Mutation	SNP	ENST00000504595.1	37	c.839C>T	CCDS54833.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.190915	0.78789	.	.	ENSG00000183580	ENST00000504595;ENST00000510662;ENST00000329673	T;T;T	0.02421	4.3;4.3;4.3	5.16	5.16	0.70880	.	0.000000	0.85682	D	0.000000	T	0.06962	0.0177	L	0.32530	0.975	0.80722	D	1	D	0.76494	0.999	P	0.56343	0.796	T	0.29181	-1.0020	10	0.59425	D	0.04	.	15.0679	0.72011	0.0:0.8577:0.1423:0.0	.	280	Q9UJT9	FBXL7_HUMAN	M	280;233;268	ENSP00000423630:T280M;ENSP00000425184:T233M;ENSP00000329632:T268M	ENSP00000329632:T268M	T	+	2	0	FBXL7	15989658	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.868000	0.63021	2.414000	0.81942	0.655000	0.94253	ACG		0.612	FBXL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366117.1	NM_012304		21	12	0	0	0	1	0	21	12					T	15936658	C	T	15936658	3	4	435	1	0	0	0	0	1	0	0	0	5724	536	19	1	853	1	FBXL7	5	15936658	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	1167538	15936658	164978602	2592	23517											
FBXL7	23194	broad.mit.edu	37	chr5	15936755	15936755	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgccgctgcgtccgcctgacCgacgaaggcctgcgctacct	5	6	12	18	7	0	1	0	1	0	0	1	3	1	1	6	1	3	2	6	1	2	1	rs554047539		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:15936755C>T	ENST00000504595.1	+	4	1417	c.936C>T	c.(934-936)acC>acT	p.T312T	MIR887_ENST00000401258.1_RNA|FBXL7_ENST00000510662.1_Silent_p.T265T|FBXL7_ENST00000329673.7_Silent_p.T300T	NM_001278317.1|NM_012304.3	NP_001265246.1|NP_036436.1	Q9UJT9	FBXL7_HUMAN	F-box and leucine-rich repeat protein 7	312					cell proliferation (GO:0008283)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic nuclear division (GO:0007067)|protein ubiquitination (GO:0016567)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|ubiquitin-dependent protein catabolic process (GO:0006511)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|SCF ubiquitin ligase complex (GO:0019005)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(13)|lung(33)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	60						TCCGCCTGACCGACGAAGGCC	0.662																																						ENST00000504595.1																			0				cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(13)|lung(33)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	60						c.(934-936)acC>acT		F-box and leucine-rich repeat protein 7							36	40	38					5																	15936755		2188	4283	6471	SO:0001819	synonymous_variant	23194				ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity	g.chr5:15936755C>T	AB020647	CCDS54833.1, CCDS64129.1	5p15.1	2011-06-09				ENSG00000183580		"F-boxes / Leucine-rich repeats"	13604	protein-coding gene	gene with protein product		605656				10048485, 10531035	Standard	NM_012304		Approved	KIAA0840, FBL7, FBL6	uc003jfn.1	Q9UJT9		ENST00000504595.1:c.936C>T	5.37:g.15936755C>T						FBXL7_ENST00000329673.7_Silent_p.T300T|FBXL7_ENST00000510662.1_Silent_p.T265T	p.T312T	NM_001278317.1|NM_012304.3	NP_001265246.1|NP_036436.1	Q9UJT9	FBXL7_HUMAN			4	1417	+			312					B9EGF1|D6RDY7|O94926	Silent	SNP	ENST00000504595.1	37	c.936C>T	CCDS54833.1																																																																																				0.662	FBXL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366117.1	NM_012304		4	9	0	0	0	1	0	4	9					T	15936755	C	T	15936755	2	4	435	1	0	0	0	0	0	0	0	1	5724	639	23	2		2	FBXL7	5	15936755	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	97	15936755	164978505	2593	23518											
FBXL7	23194	broad.mit.edu	37	chr5	15936788	15936788	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cgctacctggtgatctactgCgcctccatcaaggagctgag	8	9	11	13	2	2	2	1	2	1	0	3	3	3	3	3	2	4	2	3	2	3	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:15936788C>T	ENST00000504595.1	+	4	1450	c.969C>T	c.(967-969)tgC>tgT	p.C323C	MIR887_ENST00000401258.1_RNA|FBXL7_ENST00000510662.1_Silent_p.C276C|FBXL7_ENST00000329673.7_Silent_p.C311C	NM_001278317.1|NM_012304.3	NP_001265246.1|NP_036436.1	Q9UJT9	FBXL7_HUMAN	F-box and leucine-rich repeat protein 7	323					cell proliferation (GO:0008283)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic nuclear division (GO:0007067)|protein ubiquitination (GO:0016567)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|ubiquitin-dependent protein catabolic process (GO:0006511)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|SCF ubiquitin ligase complex (GO:0019005)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(13)|lung(33)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	60						TGATCTACTGCGCCTCCATCA	0.667																																						ENST00000504595.1																			0				cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(13)|lung(33)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	60						c.(967-969)tgC>tgT		F-box and leucine-rich repeat protein 7							30	33	32					5																	15936788		2186	4276	6462	SO:0001819	synonymous_variant	23194				ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity	g.chr5:15936788C>T	AB020647	CCDS54833.1, CCDS64129.1	5p15.1	2011-06-09				ENSG00000183580		"F-boxes / Leucine-rich repeats"	13604	protein-coding gene	gene with protein product		605656				10048485, 10531035	Standard	NM_012304		Approved	KIAA0840, FBL7, FBL6	uc003jfn.1	Q9UJT9		ENST00000504595.1:c.969C>T	5.37:g.15936788C>T						FBXL7_ENST00000329673.7_Silent_p.C311C|FBXL7_ENST00000510662.1_Silent_p.C276C	p.C323C	NM_001278317.1|NM_012304.3	NP_001265246.1|NP_036436.1	Q9UJT9	FBXL7_HUMAN			4	1450	+			323					B9EGF1|D6RDY7|O94926	Silent	SNP	ENST00000504595.1	37	c.969C>T	CCDS54833.1																																																																																				0.667	FBXL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366117.1	NM_012304		4	9	0	0	0	1	0	4	9					T	15936788	C	T	15936788	2	4	435	1	0	0	0	0	0	0	0	1	5724	776	27	1		1	FBXL7	5	15936788	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	33	15936788	164978472	2594	23519											
MYO10	4651	broad.mit.edu	37	chr5	16675191	16675191	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgggtcagacatggactccaGttgctgcagggaattgaata	11	10	13	7	0	1	2	1	1	0	1	2	4	2	4	1	3	2	3	1	3	3	3	rs199723519		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:16675191G>A	ENST00000513610.1	-	35	5189	c.4735C>T	c.(4735-4737)Ctg>Ttg	p.L1579L	MYO10_ENST00000505695.1_Silent_p.L918L|MYO10_ENST00000515803.1_Silent_p.L918L|MYO10_ENST00000274203.9_Silent_p.L936L|MYO10_ENST00000427430.2_Silent_p.L936L	NM_012334.2	NP_036466.2	Q9HD67	MYO10_HUMAN	myosin X	1579	MyTH4. {ECO:0000255|PROSITE- ProRule:PRU00359}.				ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cytoskeleton-dependent intracellular transport (GO:0030705)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|metabolic process (GO:0008152)|positive regulation of cell-cell adhesion (GO:0022409)|regulation of cell shape (GO:0008360)|regulation of filopodium assembly (GO:0051489)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|plus-end directed microfilament motor activity (GO:0060002)|spectrin binding (GO:0030507)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	86						ATGGACTCCAGTTGCTGCAGG	0.498																																						ENST00000513610.1																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	86						c.(4735-4737)Ctg>Ttg		myosin X							101	96	98					5																	16675191		2029	4181	6210	SO:0001819	synonymous_variant	4651				axon guidance|signal transduction	myosin complex	actin binding|ATP binding|motor activity	g.chr5:16675191G>A	AF247457	CCDS54834.1	5p15.1-p14.3	2013-01-10				ENSG00000145555		"Myosins / Myosin superfamily : Class X", "Pleckstrin homology (PH) domain containing"	7593	protein-coding gene	gene with protein product		601481				8884266	Standard	NM_012334		Approved	KIAA0799	uc003jft.4	Q9HD67		ENST00000513610.1:c.4735C>T	5.37:g.16675191G>A						MYO10_ENST00000427430.2_Silent_p.L936L|MYO10_ENST00000505695.1_Silent_p.L918L|MYO10_ENST00000274203.9_Silent_p.L936L|MYO10_ENST00000515803.1_Silent_p.L918L	p.L1579L	NM_012334.2	NP_036466.2	Q9HD67	MYO10_HUMAN			35	5189	-			1579			MyTH4.		A7E2D1|O94893|Q8IVX5|Q9NYM7|Q9P110|Q9P111|Q9UHF6	Silent	SNP	ENST00000513610.1	37	c.4735C>T	CCDS54834.1																																																																																				0.498	MYO10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366167.1	NM_012334		11	19	0	0	0	1	0	11	19					A	16675191	G	A	16675191	2	1	435	1	0	0	0	0	0	0	0	1	10062	1020	36	3		3	MYO10	5	16675191	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	738403	16675191	164240069	2595	23520											
MYO10	4651	broad.mit.edu	37	chr5	16694490	16694490	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agcaacctactttgccgttcGcacttctacggtgcccttga	7	12	8	14	3	1	1	0	1	1	0	2	1	1	1	3	1	6	3	3	1	3	6			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:16694490G>A	ENST00000513610.1	-	27	4244	c.3790C>T	c.(3790-3792)Cga>Tga	p.R1264*	MYO10_ENST00000505695.1_Nonsense_Mutation_p.R603*|MYO10_ENST00000515803.1_Nonsense_Mutation_p.R603*|MYO10_ENST00000274203.9_Nonsense_Mutation_p.R621*|MYO10_ENST00000427430.2_Nonsense_Mutation_p.R621*	NM_012334.2	NP_036466.2	Q9HD67	MYO10_HUMAN	myosin X	1264	PH 1. {ECO:0000255|PROSITE- ProRule:PRU00145}.				ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cytoskeleton-dependent intracellular transport (GO:0030705)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|metabolic process (GO:0008152)|positive regulation of cell-cell adhesion (GO:0022409)|regulation of cell shape (GO:0008360)|regulation of filopodium assembly (GO:0051489)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|plus-end directed microfilament motor activity (GO:0060002)|spectrin binding (GO:0030507)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	86						TTTGCCGTTCGCACTTCTACG	0.537																																						ENST00000513610.1																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	86						c.(3790-3792)Cga>Tga		myosin X							149	151	150					5																	16694490		2048	4205	6253	SO:0001587	stop_gained	4651				axon guidance|signal transduction	myosin complex	actin binding|ATP binding|motor activity	g.chr5:16694490G>A	AF247457	CCDS54834.1	5p15.1-p14.3	2013-01-10				ENSG00000145555		"Myosins / Myosin superfamily : Class X", "Pleckstrin homology (PH) domain containing"	7593	protein-coding gene	gene with protein product		601481				8884266	Standard	NM_012334		Approved	KIAA0799	uc003jft.4	Q9HD67		ENST00000513610.1:c.3790C>T	5.37:g.16694490G>A	ENSP00000421280:p.Arg1264*					MYO10_ENST00000427430.2_Nonsense_Mutation_p.R621*|MYO10_ENST00000505695.1_Nonsense_Mutation_p.R603*|MYO10_ENST00000274203.9_Nonsense_Mutation_p.R621*|MYO10_ENST00000515803.1_Nonsense_Mutation_p.R603*	p.R1264*	NM_012334.2	NP_036466.2	Q9HD67	MYO10_HUMAN			27	4244	-			1264			PH 1.		A7E2D1|O94893|Q8IVX5|Q9NYM7|Q9P110|Q9P111|Q9UHF6	Nonsense_Mutation	SNP	ENST00000513610.1	37	c.3790C>T	CCDS54834.1	.	.	.	.	.	.	.	.	.	.	G	45	11.944751	0.99620	.	.	ENSG00000145555	ENST00000513610;ENST00000515803;ENST00000274203;ENST00000505695;ENST00000427430	.	.	.	5.48	4.6	0.57074	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.5891	0.76510	0.0:0.0:0.8612:0.1388	.	.	.	.	X	1264;603;621;603;621	.	ENSP00000274203:R621X	R	-	1	2	MYO10	16747490	1.000000	0.71417	0.884000	0.34674	0.191000	0.23601	7.998000	0.88491	1.291000	0.44653	0.655000	0.94253	CGA		0.537	MYO10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366167.1	NM_012334		39	69	0	0	0	1	0	39	69					A	16694490	G	A	16694490	4	1	435	1	0	0	0	0	0	1	0	0	10062	1095	38	1	2446	1	MYO10	5	16694490	Nonsense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	19299	16694490	164220770	2596	23521											
MYO10	4651	broad.mit.edu	37	chr5	16780631	16780631	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atccagctgtcgtcccactcAcctctttcttcatgttccag	6	14	5	16	1	4	0	2	0	2	0	8	0	7	0	4	0	1	2	4	0	0	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:16780631A>G	ENST00000513610.1	-	8	1281		c.e8+1			NM_012334.2	NP_036466.2	Q9HD67	MYO10_HUMAN	myosin X						ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cytoskeleton-dependent intracellular transport (GO:0030705)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|metabolic process (GO:0008152)|positive regulation of cell-cell adhesion (GO:0022409)|regulation of cell shape (GO:0008360)|regulation of filopodium assembly (GO:0051489)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|plus-end directed microfilament motor activity (GO:0060002)|spectrin binding (GO:0030507)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	86						CGTCCCACTCACCTCTTTCTT	0.403																																						ENST00000513610.1																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	86						c.e8+1		myosin X							85	81	82					5																	16780631		1989	4151	6140	SO:0001630	splice_region_variant	4651				axon guidance|signal transduction	myosin complex	actin binding|ATP binding|motor activity	g.chr5:16780631A>G	AF247457	CCDS54834.1	5p15.1-p14.3	2013-01-10				ENSG00000145555		"Myosins / Myosin superfamily : Class X", "Pleckstrin homology (PH) domain containing"	7593	protein-coding gene	gene with protein product		601481				8884266	Standard	NM_012334		Approved	KIAA0799	uc003jft.4	Q9HD67		ENST00000513610.1:c.826+1T>C	5.37:g.16780631A>G								NM_012334.2	NP_036466.2	Q9HD67	MYO10_HUMAN			8	1281	-								A7E2D1|O94893|Q8IVX5|Q9NYM7|Q9P110|Q9P111|Q9UHF6	Splice_Site	SNP	ENST00000513610.1	37		CCDS54834.1	.	.	.	.	.	.	.	.	.	.	A	25.0	4.591207	0.86851	.	.	ENSG00000145555	ENST00000513610;ENST00000513882	.	.	.	5.92	5.92	0.95590	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.3631	0.83280	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	MYO10	16833631	1.000000	0.71417	0.987000	0.45799	0.845000	0.48019	8.752000	0.91632	2.266000	0.75297	0.533000	0.62120	.		0.403	MYO10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366167.1	NM_012334	Intron	4	3	0	0	0	1	0	4	3					G	16780631	A	G	16780631	5	3	435	1	0	0	0	0	0	0	1	0	10062	173	6	4	5484	4	MYO10	5	16780631	Splice_Site	SNP	A	TCGA-XK-AAIW-01A-11D-A41K-08	86141	16780631	164134629	2597	23522											
MYO10	4651	broad.mit.edu	37	chr5	16818191	16818191	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catggagctctgtcaaggacGccatgtcatccacgccctcc	8	8	9	16	2	3	0	2	0	1	0	5	2	5	2	4	2	1	1	4	2	1	0	rs373617137		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:16818191G>A	ENST00000513610.1	-	3	660	c.206C>T	c.(205-207)gCg>gTg	p.A69V	MYO10_ENST00000507288.1_Missense_Mutation_p.A69V	NM_012334.2	NP_036466.2	Q9HD67	MYO10_HUMAN	myosin X	69	Myosin motor.				ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cytoskeleton-dependent intracellular transport (GO:0030705)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|metabolic process (GO:0008152)|positive regulation of cell-cell adhesion (GO:0022409)|regulation of cell shape (GO:0008360)|regulation of filopodium assembly (GO:0051489)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|plus-end directed microfilament motor activity (GO:0060002)|spectrin binding (GO:0030507)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	86						TGTCAAGGACGCCATGTCATC	0.468																																						ENST00000513610.1																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	86						c.(205-207)gCg>gTg		myosin X							68	68	68					5																	16818191		1979	4157	6136	SO:0001583	missense	4651				axon guidance|signal transduction	myosin complex	actin binding|ATP binding|motor activity	g.chr5:16818191G>A	AF247457	CCDS54834.1	5p15.1-p14.3	2013-01-10				ENSG00000145555		"Myosins / Myosin superfamily : Class X", "Pleckstrin homology (PH) domain containing"	7593	protein-coding gene	gene with protein product		601481				8884266	Standard	NM_012334		Approved	KIAA0799	uc003jft.4	Q9HD67		ENST00000513610.1:c.206C>T	5.37:g.16818191G>A	ENSP00000421280:p.Ala69Val					MYO10_ENST00000507288.1_Missense_Mutation_p.A69V	p.A69V	NM_012334.2	NP_036466.2	Q9HD67	MYO10_HUMAN			3	660	-			69			Myosin head-like.		A7E2D1|O94893|Q8IVX5|Q9NYM7|Q9P110|Q9P111|Q9UHF6	Missense_Mutation	SNP	ENST00000513610.1	37	c.206C>T	CCDS54834.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.377401	0.82682	.	.	ENSG00000145555	ENST00000513610;ENST00000513882;ENST00000502436;ENST00000507288	T;T;T;D	0.95272	-0.6;-0.6;-0.6;-3.66	6.08	6.08	0.98989	Myosin head, motor domain (2);	.	.	.	.	D	0.96156	0.8747	L	0.40543	1.245	0.80722	D	1	D;D;D	0.89917	1.0;0.999;0.999	D;D;D	0.79784	0.993;0.97;0.912	D	0.96064	0.9041	9	0.72032	D	0.01	.	20.6634	0.99662	0.0:0.0:1.0:0.0	.	69;36;69	Q8IVX5;E9PCN3;Q9HD67	.;.;MYO10_HUMAN	V	69;80;36;69	ENSP00000421280:A69V;ENSP00000421309:A80V;ENSP00000426783:A36V;ENSP00000426664:A69V	ENSP00000426783:A36V	A	-	2	0	MYO10	16871191	1.000000	0.71417	0.947000	0.38551	0.136000	0.21042	8.971000	0.93419	2.894000	0.99253	0.655000	0.94253	GCG		0.468	MYO10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366167.1	NM_012334		7	14	0	0	0	1	0	7	14					A	16818191	G	A	16818191	3	1	435	1	0	0	0	0	1	0	0	0	10062	1087	38	1	6126	1	MYO10	5	16818191	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	37560	16818191	164097069	2598	23523											
BASP1	10409	broad.mit.edu	37	chr5	17275931	17275931	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acacccaaggcccagggcccCgcagcctctgcagaagagcc	10	2	11	18	1	1	2	0	0	1	2	1	2	1	2	6	2	3	2	6	2	2	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:17275931C>T	ENST00000322611.3	+	2	866	c.606C>T	c.(604-606)ccC>ccT	p.P202P		NM_001271606.1|NM_006317.3	NP_001258535.1|NP_006308.3	P80723	BASP1_HUMAN	brain abundant, membrane attached signal protein 1	202					diaphragm development (GO:0060539)|glomerular visceral epithelial cell differentiation (GO:0072112)|gonad development (GO:0008406)|mesenchymal to epithelial transition (GO:0060231)|metanephric mesenchyme development (GO:0072075)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of heart growth (GO:0060421)|positive regulation of metanephric ureteric bud development (GO:2001076)|substantia nigra development (GO:0021762)|thorax and anterior abdomen determination (GO:0007356)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	protein domain specific binding (GO:0019904)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)			endometrium(1)|lung(8)	9						CCCAGGGCCCCGCAGCCTCTG	0.617																																						ENST00000322611.3																			0				endometrium(1)|lung(8)	9						c.(604-606)ccC>ccT		brain abundant, membrane attached signal protein 1							14	20	18					5																	17275931		2190	4292	6482	SO:0001819	synonymous_variant	10409				glomerular visceral epithelial cell differentiation|negative regulation of transcription, DNA-dependent	cytoplasm|cytoskeleton|growth cone|nuclear speck|plasma membrane	protein domain specific binding|transcription corepressor activity|transcription regulatory region DNA binding	g.chr5:17275931C>T	AF039656	CCDS3888.1	5p15.1	2010-12-03			ENSG00000176788	ENSG00000176788			957	protein-coding gene	gene with protein product		605940				9310187, 9749536	Standard	NM_001271606		Approved	NAP-22, NAP22, CAP23, CAP-23	uc031siz.1	P80723	OTTHUMG00000131061	ENST00000322611.3:c.606C>T	5.37:g.17275931C>T							p.P202P	NM_001271606.1|NM_006317.3	NP_001258535.1|NP_006308.3	P80723	BASP1_HUMAN			2	866	+			202					B4DJA8|D3DTD5|O43596|Q5U0S0|Q9BWA5	Silent	SNP	ENST00000322611.3	37	c.606C>T	CCDS3888.1																																																																																				0.617	BASP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253716.2			12	18	0	0	0	1	0	12	18					T	17275931	C	T	17275931	2	4	435	1	0	0	0	0	0	0	0	1	1317	639	23	2		2	BASP1	5	17275931	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	457740	17275931	163639329	2599	23524											
CDH12	1010	broad.mit.edu	37	chr5	21802475	21802475	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaaccggtggtcaaggtgaaGgttggaagcctcaactttga	12	9	13	7	1	2	2	2	2	0	0	2	3	2	3	2	5	3	1	2	5	5	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:21802475G>T	ENST00000382254.1	-	10	2143	c.1057C>A	c.(1057-1059)Ctt>Att	p.L353I	CDH12_ENST00000521384.1_5'UTR|CDH12_ENST00000504376.2_Missense_Mutation_p.L353I|CDH12_ENST00000522262.1_Missense_Mutation_p.L313I	NM_004061.3	NP_004052.2	P55289	CAD12_HUMAN	cadherin 12, type 2 (N-cadherin 2)	353	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						TCAAGGTGAAGGTTGGAAGCC	0.438										HNSCC(59;0.17)																												ENST00000382254.1																			0				NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						c.(1057-1059)Ctt>Att		cadherin 12, type 2 (N-cadherin 2)							63	64	63					5																	21802475		2203	4300	6503	SO:0001583	missense	1010				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:21802475G>T	L33477	CCDS3890.1	5p14.3	2010-01-26			ENSG00000154162	ENSG00000154162		"Cadherins / Major cadherins"	1751	protein-coding gene	gene with protein product		600562				7731968	Standard	NM_004061		Approved	Br-cadherin, CDHB	uc003jgk.2	P55289	OTTHUMG00000090591	ENST00000382254.1:c.1057C>A	5.37:g.21802475G>T	ENSP00000371689:p.Leu353Ile	HNSCC(59;0.17)				CDH12_ENST00000504376.2_Missense_Mutation_p.L353I|CDH12_ENST00000521384.1_5'UTR|CDH12_ENST00000522262.1_Missense_Mutation_p.L313I	p.L353I	NM_004061.3	NP_004052.2	P55289	CAD12_HUMAN			10	2143	-			353			Cadherin 3.		B2RBT1|B7Z2U6|Q86UD2	Missense_Mutation	SNP	ENST00000382254.1	37	c.1057C>A	CCDS3890.1	.	.	.	.	.	.	.	.	.	.	G	11.90	1.777351	0.31411	.	.	ENSG00000154162	ENST00000504376;ENST00000382254;ENST00000522262	T;T;T	0.52754	0.65;0.65;0.65	5.7	1.69	0.24217	Cadherin (4);Cadherin-like (1);	0.256423	0.38720	N	0.001593	T	0.22513	0.0543	N	0.04959	-0.14	0.32904	D	0.513657	B;B	0.14012	0.0;0.009	B;B	0.13407	0.005;0.009	T	0.13548	-1.0505	10	0.28530	T	0.3	.	7.728	0.28771	0.065:0.4529:0.3657:0.1164	.	313;353	B7Z2U6;P55289	.;CAD12_HUMAN	I	353;353;313	ENSP00000423577:L353I;ENSP00000371689:L353I;ENSP00000428786:L313I	ENSP00000371689:L353I	L	-	1	0	CDH12	21838232	0.923000	0.31300	0.983000	0.44433	0.987000	0.75469	0.724000	0.25954	0.020000	0.15106	0.655000	0.94253	CTT		0.438	CDH12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207139.1	NM_004061		11	23	1	0	1.08611e-07	1	1.14056e-07	11	23					T	21802475	G	T	21802475	3	4	435	1	0	0	0	0	1	0	0	0	3098	1000	35	5	1351	5	CDH12	5	21802475	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	4526544	21802475	159112785	2600	23525											
PRDM9	56979	broad.mit.edu	37	chr5	23522811	23522811	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gacagtgcagtggacaagggGcaccccaaccgttcagccct	10	5	12	14	1	1	0	1	0	0	0	1	2	1	1	4	3	3	3	4	3	2	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:23522811G>A	ENST00000296682.3	+	8	881	c.699G>A	c.(697-699)ggG>ggA	p.G233G		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	233					meiotic gene conversion (GO:0006311)|positive regulation of meiosis I (GO:0060903)|positive regulation of reciprocal meiotic recombination (GO:0010845)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)	histone methyltransferase activity (H3-K4 specific) (GO:0042800)|metal ion binding (GO:0046872)|recombination hotspot binding (GO:0010844)|sequence-specific DNA binding (GO:0043565)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						TGGACAAGGGGCACCCCAACC	0.557										HNSCC(3;0.000094)																												ENST00000296682.3																			0				NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						c.(697-699)ggG>ggA		PR domain containing 9							54	52	53					5																	23522811		2203	4300	6503	SO:0001819	synonymous_variant	56979				meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding	g.chr5:23522811G>A	AF275816	CCDS43307.1	5p14.2	2014-06-03			ENSG00000164256	ENSG00000164256		"-", "Zinc fingers, C2H2-type"	13994	protein-coding gene	gene with protein product	"PR-domain containing protein 9"	609760	"minisatellite binding protein 3, 115kDa", "minisatellite binding protein 3 (115kD)"	MSBP3		10668202, 2062643, 24634223	Standard	NM_020227		Approved	PFM6, ZNF899	uc003jgo.3	Q9NQV7	OTTHUMG00000161918	ENST00000296682.3:c.699G>A	5.37:g.23522811G>A		HNSCC(3;0.000094)					p.G233G	NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN			8	881	+			233					B4DX22|Q27Q50	Silent	SNP	ENST00000296682.3	37	c.699G>A	CCDS43307.1																																																																																				0.557	PRDM9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366375.1	NM_020227		11	19	0	0	0	1	0	11	19					A	23522811	G	A	23522811	2	1	435	1	0	0	0	0	0	0	0	1	12463	1190	42	3		3	PRDM9	5	23522811	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	1720336	23522811	157392449	2601	23526											
PRDM9	56979	broad.mit.edu	37	chr5	23527522	23527522	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acacacacaggggagaagccCtatgtctgcagggagtgtgg	11	6	15	9	0	1	1	0	0	1	1	1	3	1	2	1	4	2	1	1	4	2	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:23527522C>A	ENST00000296682.3	+	11	2507	c.2325C>A	c.(2323-2325)ccC>ccA	p.P775P		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	775					meiotic gene conversion (GO:0006311)|positive regulation of meiosis I (GO:0060903)|positive regulation of reciprocal meiotic recombination (GO:0010845)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)	histone methyltransferase activity (H3-K4 specific) (GO:0042800)|metal ion binding (GO:0046872)|recombination hotspot binding (GO:0010844)|sequence-specific DNA binding (GO:0043565)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						GGGAGAAGCCCTATGTCTGCA	0.577										HNSCC(3;0.000094)																												ENST00000296682.3																			0				NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						c.(2323-2325)ccC>ccA		PR domain containing 9							69	75	73					5																	23527522		2187	4291	6478	SO:0001819	synonymous_variant	56979				meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding	g.chr5:23527522C>A	AF275816	CCDS43307.1	5p14.2	2014-06-03			ENSG00000164256	ENSG00000164256		"-", "Zinc fingers, C2H2-type"	13994	protein-coding gene	gene with protein product	"PR-domain containing protein 9"	609760	"minisatellite binding protein 3, 115kDa", "minisatellite binding protein 3 (115kD)"	MSBP3		10668202, 2062643, 24634223	Standard	NM_020227		Approved	PFM6, ZNF899	uc003jgo.3	Q9NQV7	OTTHUMG00000161918	ENST00000296682.3:c.2325C>A	5.37:g.23527522C>A		HNSCC(3;0.000094)					p.P775P	NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN			11	2507	+			775					B4DX22|Q27Q50	Silent	SNP	ENST00000296682.3	37	c.2325C>A	CCDS43307.1																																																																																				0.577	PRDM9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366375.1	NM_020227		51	56	1	0	1.46156e-29	1	1.63704e-29	51	56					A	23527522	C	A	23527522	2	1	435	1	0	0	0	0	0	0	0	1	12463	668	24	5		5	PRDM9	5	23527522	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	4711	23527522	157387738	2602	23527											
CDH9	1007	broad.mit.edu	37	chr5	26881626	26881626	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggtatcttcttccccgccGccttcatcgttgtaggtcac	4	14	9	14	3	4	0	2	0	2	0	6	0	5	0	4	2	0	3	4	2	2	6	rs202002897		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:26881626G>A	ENST00000231021.4	-	12	2161	c.1989C>T	c.(1987-1989)ggC>ggT	p.G663G		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	663					adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						CTTCCCCGCCGCCTTCATCGT	0.438													G|||	1	0.000199681	0	0	5008	,	,		16632	0.001		0	False		,,,				2504	0				Melanoma(8;187 585 15745 40864 52829)	ENST00000231021.4																			0				breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						c.(1987-1989)ggC>ggT		cadherin 9, type 2 (T1-cadherin)							162	164	163					5																	26881626		2203	4300	6503	SO:0001819	synonymous_variant	1007				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:26881626G>A	AB035302	CCDS3893.1	5p14	2010-01-26			ENSG00000113100	ENSG00000113100		"Cadherins / Major cadherins"	1768	protein-coding gene	gene with protein product		609974				2059658	Standard	NM_016279		Approved		uc003jgs.1	Q9ULB4	OTTHUMG00000090671	ENST00000231021.4:c.1989C>T	5.37:g.26881626G>A							p.G663G	NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN			12	2161	-			663					Q3B7I5	Silent	SNP	ENST00000231021.4	37	c.1989C>T	CCDS3893.1																																																																																				0.438	CDH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207352.1	NM_016279		56	68	0	0	0	1	0	56	68					A	26881626	G	A	26881626	2	1	435	1	0	0	0	0	0	0	0	1	3117	1074	38	1		1	CDH9	5	26881626	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	3354104	26881626	154033634	2603	23528											
CDH9	1007	broad.mit.edu	37	chr5	26881665	26881665	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acaatgttgtcccggacatcGtcttttgaaattatcagagg	11	13	9	8	2	2	2	1	1	1	1	4	3	3	3	1	2	0	1	1	2	3	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:26881665G>A	ENST00000231021.4	-	12	2122	c.1950C>T	c.(1948-1950)gaC>gaT	p.D650D		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	650					adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						CCCGGACATCGTCTTTTGAAA	0.408																																					Melanoma(8;187 585 15745 40864 52829)	ENST00000231021.4																			0				breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						c.(1948-1950)gaC>gaT		cadherin 9, type 2 (T1-cadherin)							106	110	109					5																	26881665		2203	4300	6503	SO:0001819	synonymous_variant	1007				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:26881665G>A	AB035302	CCDS3893.1	5p14	2010-01-26			ENSG00000113100	ENSG00000113100		"Cadherins / Major cadherins"	1768	protein-coding gene	gene with protein product		609974				2059658	Standard	NM_016279		Approved		uc003jgs.1	Q9ULB4	OTTHUMG00000090671	ENST00000231021.4:c.1950C>T	5.37:g.26881665G>A							p.D650D	NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN			12	2122	-			650					Q3B7I5	Silent	SNP	ENST00000231021.4	37	c.1950C>T	CCDS3893.1																																																																																				0.408	CDH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207352.1	NM_016279		47	53	0	0	0	1	0	47	53					A	26881665	G	A	26881665	2	1	435	1	0	0	0	0	0	0	0	1	3117	1136	40	1		1	CDH9	5	26881665	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	39	26881665	154033595	2604	23529											
CDH6	1004	broad.mit.edu	37	chr5	31267787	31267787	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggaggaatacacaggatcCgattatcagtatgtgggcaa	13	9	12	7	1	1	0	1	0	0	0	2	4	2	3	1	4	1	2	1	4	5	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:31267787C>T	ENST00000265071.2	+	2	472	c.207C>T	c.(205-207)tcC>tcT	p.S69S	RP11-152K4.2_ENST00000523584.1_RNA|CDH6_ENST00000514738.1_Silent_p.S14S	NM_004932.3	NP_004923.1	P55285	CADH6_HUMAN	cadherin 6, type 2, K-cadherin (fetal kidney)	69	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						ACACAGGATCCGATTATCAGT	0.448																																						ENST00000265071.2																			0				NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						c.(205-207)tcC>tcT		cadherin 6, type 2, K-cadherin (fetal kidney)							98	102	101					5																	31267787		2203	4300	6503	SO:0001819	synonymous_variant	1004				adherens junction organization|cell junction assembly|homophilic cell adhesion	cytoplasm|integral to membrane|nucleus|plasma membrane	calcium ion binding	g.chr5:31267787C>T	D31784	CCDS3894.1	5p13.3	2010-01-26			ENSG00000113361	ENSG00000113361		"Cadherins / Major cadherins"	1765	protein-coding gene	gene with protein product	"K-Cadherin"	603007				7743525, 10191097	Standard	NM_004932		Approved		uc003jhe.2	P55285	OTTHUMG00000090673	ENST00000265071.2:c.207C>T	5.37:g.31267787C>T						CDH6_ENST00000514738.1_Silent_p.S14S	p.S69S	NM_004932.3	NP_004923.1	P55285	CADH6_HUMAN			2	472	+			69			Cadherin 1.		A8K5H5|Q9BWS0	Silent	SNP	ENST00000265071.2	37	c.207C>T	CCDS3894.1																																																																																				0.448	CDH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207355.2	NM_004932		18	36	0	0	0	1	0	18	36					T	31267787	C	T	31267787	2	4	435	1	0	0	0	0	0	0	0	1	3114	639	23	2		2	CDH6	5	31267787	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	4386122	31267787	149647473	2605	23530											
CDH6	1004	broad.mit.edu	37	chr5	31305303	31305303	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cttggactttgaaaagaagaAagtgtatacccttaaagtgg	15	11	10	5	0	0	3	0	1	0	2	0	4	0	4	1	2	1	1	1	2	8	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:31305303A>C	ENST00000265071.2	+	7	1287	c.1022A>C	c.(1021-1023)aAa>aCa	p.K341T	CDH6_ENST00000514738.1_Missense_Mutation_p.K286T	NM_004932.3	NP_004923.1	P55285	CADH6_HUMAN	cadherin 6, type 2, K-cadherin (fetal kidney)	341	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						GAAAAGAAGAAAGTGTATACC	0.438																																						ENST00000265071.2																			0				NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						c.(1021-1023)aAa>aCa		cadherin 6, type 2, K-cadherin (fetal kidney)							80	81	80					5																	31305303		2203	4300	6503	SO:0001583	missense	1004				adherens junction organization|cell junction assembly|homophilic cell adhesion	cytoplasm|integral to membrane|nucleus|plasma membrane	calcium ion binding	g.chr5:31305303A>C	D31784	CCDS3894.1	5p13.3	2010-01-26			ENSG00000113361	ENSG00000113361		"Cadherins / Major cadherins"	1765	protein-coding gene	gene with protein product	"K-Cadherin"	603007				7743525, 10191097	Standard	NM_004932		Approved		uc003jhe.2	P55285	OTTHUMG00000090673	ENST00000265071.2:c.1022A>C	5.37:g.31305303A>C	ENSP00000265071:p.Lys341Thr					CDH6_ENST00000514738.1_Missense_Mutation_p.K286T	p.K341T	NM_004932.3	NP_004923.1	P55285	CADH6_HUMAN			7	1287	+			341			Cadherin 3.		A8K5H5|Q9BWS0	Missense_Mutation	SNP	ENST00000265071.2	37	c.1022A>C	CCDS3894.1	.	.	.	.	.	.	.	.	.	.	A	13.33	2.204956	0.38905	.	.	ENSG00000113361	ENST00000514738;ENST00000265071	T;T	0.52295	0.67;0.67	5.97	3.57	0.40892	Cadherin (5);Cadherin-like (1);	0.343317	0.32430	N	0.006110	T	0.37812	0.1017	L	0.39692	1.235	0.36658	D	0.877777	B;B	0.28233	0.142;0.204	B;B	0.30646	0.118;0.113	T	0.40627	-0.9553	10	0.41790	T	0.15	.	9.2587	0.37599	0.8:0.0:0.2:0.0	.	341;341	P55285;P55285-2	CADH6_HUMAN;.	T	286;341	ENSP00000424843:K286T;ENSP00000265071:K341T	ENSP00000265071:K341T	K	+	2	0	CDH6	31341060	0.724000	0.28038	1.000000	0.80357	0.994000	0.84299	1.470000	0.35354	1.042000	0.40150	0.533000	0.62120	AAA		0.438	CDH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207355.2	NM_004932		32	23	0	0	0	1	0	32	23					C	31305303	A	C	31305303	3	2	435	1	0	0	0	0	1	0	0	0	3114	14	1	5	1044	5	CDH6	5	31305303	Missense_Mutation	SNP	A	TCGA-XK-AAIW-01A-11D-A41K-08	37516	31305303	149609957	2606	23531											
RNASEN	29102	broad.mit.edu	37	chr5	31435893	31435893	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tttgctagcatggcaaggtgCtgattctgaacaatggcagt	10	12	12	7	0	1	2	0	2	1	0	1	2	1	2	0	3	4	5	0	3	4	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:31435893C>T	ENST00000511367.2	-	24	3265	c.3021G>A	c.(3019-3021)caG>caA	p.Q1007Q	DROSHA_ENST00000513349.1_Silent_p.Q970Q|DROSHA_ENST00000442743.1_Silent_p.Q970Q|DROSHA_ENST00000344624.3_Silent_p.Q1007Q	NM_013235.4	NP_037367.3	Q9NRR4	RNC_HUMAN	drosha, ribonuclease type III	1007	Necessary for interaction with DGCR8 and pri-miRNA processing activity.|RNase III 1.				defense response to Gram-negative bacterium (GO:0050829)|defense response to Gram-positive bacterium (GO:0050830)|gene expression (GO:0010467)|miRNA metabolic process (GO:0010586)|pre-miRNA processing (GO:0031054)|primary miRNA processing (GO:0031053)|ribosome biogenesis (GO:0042254)|RNA phosphodiester bond hydrolysis (GO:0090501)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|rRNA catabolic process (GO:0016075)	nucleoplasm (GO:0005654)	lipopolysaccharide binding (GO:0001530)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|ribonuclease III activity (GO:0004525)			breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(19)|lung(33)|ovary(2)|skin(1)	66						TGGCAAGGTGCTGATTCTGAA	0.403																																						ENST00000511367.2																			0				breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(19)|lung(33)|ovary(2)|skin(1)	66						c.(3019-3021)caG>caA		drosha, ribonuclease type III							119	116	117					5																	31435893		1949	4145	6094	SO:0001819	synonymous_variant	29102				gene silencing by RNA|ribosome biogenesis|RNA processing	nucleolus|nucleoplasm	double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity	g.chr5:31435893C>T	AF116910	CCDS47194.1, CCDS47195.1	5q11.2	2010-11-17	2010-10-28	2010-10-28	ENSG00000113360	ENSG00000113360	3.1.26.3		17904	protein-coding gene	gene with protein product	"drosha, ribonuclease type III", "drosha, double-stranded RNA-specific endoribonuclease"	608828	"ribonuclease type III, nuclear"	RNASEN		10713462, 10948199	Standard	NM_013235		Approved	RNASE3L, Etohi2, HSA242976, RN3	uc003jhg.2	Q9NRR4	OTTHUMG00000161976	ENST00000511367.2:c.3021G>A	5.37:g.31435893C>T						DROSHA_ENST00000344624.3_Silent_p.Q1007Q|DROSHA_ENST00000513349.1_Silent_p.Q970Q|DROSHA_ENST00000442743.1_Silent_p.Q970Q	p.Q1007Q	NM_013235.4	NP_037367.3	Q9NRR4	RNC_HUMAN			24	3265	-			1007			Necessary for interaction with DGCR8 and pri-miRNA processing activity.|RNase III 1.		E7EMP9|Q7Z5V2|Q86YH0|Q9NW73|Q9Y2V9|Q9Y4Y0	Silent	SNP	ENST00000511367.2	37	c.3021G>A	CCDS47195.1																																																																																				0.403	DROSHA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366561.3	NM_013235		14	29	0	0	0	1	0	14	29					T	31435893	C	T	31435893	2	4	435	1	0	0	0	0	0	0	0	1	13417	796	28	3		3	RNASEN	5	31435893	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	130590	31435893	149479367	2607	23532											
RNASEN	29102	broad.mit.edu	37	chr5	31464381	31464381	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgccagttttccagaatcCttggctacttagctccaccg	8	12	8	13	1	0	1	0	0	0	1	3	2	3	1	5	1	3	3	5	1	3	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:31464381C>T	ENST00000511367.2	-	19	2780	c.2536G>A	c.(2536-2538)Gga>Aga	p.G846R	DROSHA_ENST00000513349.1_Missense_Mutation_p.G809R|DROSHA_ENST00000442743.1_Missense_Mutation_p.G809R|DROSHA_ENST00000344624.3_Missense_Mutation_p.G846R	NM_013235.4	NP_037367.3	Q9NRR4	RNC_HUMAN	drosha, ribonuclease type III	846	Necessary for interaction with DGCR8 and pri-miRNA processing activity.				defense response to Gram-negative bacterium (GO:0050829)|defense response to Gram-positive bacterium (GO:0050830)|gene expression (GO:0010467)|miRNA metabolic process (GO:0010586)|pre-miRNA processing (GO:0031054)|primary miRNA processing (GO:0031053)|ribosome biogenesis (GO:0042254)|RNA phosphodiester bond hydrolysis (GO:0090501)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|rRNA catabolic process (GO:0016075)	nucleoplasm (GO:0005654)	lipopolysaccharide binding (GO:0001530)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|ribonuclease III activity (GO:0004525)			breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(19)|lung(33)|ovary(2)|skin(1)	66						TTCCAGAATCCTTGGCTACTT	0.423																																						ENST00000511367.2																			0				breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(19)|lung(33)|ovary(2)|skin(1)	66						c.(2536-2538)Gga>Aga		drosha, ribonuclease type III							108	105	106					5																	31464381		1889	4125	6014	SO:0001583	missense	29102				gene silencing by RNA|ribosome biogenesis|RNA processing	nucleolus|nucleoplasm	double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity	g.chr5:31464381C>T	AF116910	CCDS47194.1, CCDS47195.1	5q11.2	2010-11-17	2010-10-28	2010-10-28	ENSG00000113360	ENSG00000113360	3.1.26.3		17904	protein-coding gene	gene with protein product	"drosha, ribonuclease type III", "drosha, double-stranded RNA-specific endoribonuclease"	608828	"ribonuclease type III, nuclear"	RNASEN		10713462, 10948199	Standard	NM_013235		Approved	RNASE3L, Etohi2, HSA242976, RN3	uc003jhg.2	Q9NRR4	OTTHUMG00000161976	ENST00000511367.2:c.2536G>A	5.37:g.31464381C>T	ENSP00000425979:p.Gly846Arg					DROSHA_ENST00000344624.3_Missense_Mutation_p.G846R|DROSHA_ENST00000513349.1_Missense_Mutation_p.G809R|DROSHA_ENST00000442743.1_Missense_Mutation_p.G809R	p.G846R	NM_013235.4	NP_037367.3	Q9NRR4	RNC_HUMAN			19	2780	-			846			Necessary for interaction with DGCR8 and pri-miRNA processing activity.		E7EMP9|Q7Z5V2|Q86YH0|Q9NW73|Q9Y2V9|Q9Y4Y0	Missense_Mutation	SNP	ENST00000511367.2	37	c.2536G>A	CCDS47195.1	.	.	.	.	.	.	.	.	.	.	C	34	5.404019	0.96051	.	.	ENSG00000113360	ENST00000511367;ENST00000344624;ENST00000442743;ENST00000513349;ENST00000265075;ENST00000382188	T;T;T;T	0.53857	1.2;1.2;0.6;0.6	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	T	0.73705	0.3621	M	0.71036	2.16	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.73708	0.981;0.972	T	0.74515	-0.3640	10	0.87932	D	0	-23.5533	20.3248	0.98698	0.0:1.0:0.0:0.0	.	809;846	E7EMP9;Q9NRR4	.;RNC_HUMAN	R	846;846;809;809;771;802	ENSP00000425979:G846R;ENSP00000339845:G846R;ENSP00000409335:G809R;ENSP00000424161:G809R	ENSP00000265075:G771R	G	-	1	0	DROSHA	31500138	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.360000	0.79487	2.818000	0.97014	0.655000	0.94253	GGA		0.423	DROSHA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366561.3	NM_013235		16	23	0	0	0	1	0	16	23					T	31464381	C	T	31464381	3	4	435	1	0	0	0	0	1	0	0	0	13417	690	24	3	1656	3	RNASEN	5	31464381	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	28488	31464381	149450879	2608	23533											
C5orf22	55322	broad.mit.edu	37	chr5	31551423	31551423	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caccaggctggtttaacctgCgattattcagaacttcctca	10	12	7	12	1	2	1	2	0	0	1	3	2	3	1	3	2	3	2	3	2	3	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:31551423C>T	ENST00000325366.9	+	8	1210	c.1083C>T	c.(1081-1083)tgC>tgT	p.C361C	C5orf22_ENST00000504866.1_3'UTR|C5orf22_ENST00000355907.3_Silent_p.C82C	NM_018356.2	NP_060826.2	Q49AR2	CE022_HUMAN	chromosome 5 open reading frame 22	361										kidney(3)|large_intestine(2)|lung(10)|ovary(2)|skin(1)	18						GTTTAACCTGCGATTATTCAG	0.328																																						ENST00000355907.3																			0				kidney(3)|large_intestine(2)|lung(10)|ovary(2)|skin(1)	18						c.(244-246)tgC>tgT		chromosome 5 open reading frame 22							109	104	105					5																	31551423		2203	4300	6503	SO:0001819	synonymous_variant	55322							g.chr5:31551423C>T	AK002055	CCDS3895.1	5p13.3	2012-02-22			ENSG00000082213	ENSG00000082213			25639	protein-coding gene	gene with protein product							Standard	NM_018356		Approved	FLJ11193	uc003jhj.4	Q49AR2	OTTHUMG00000131067	ENST00000325366.9:c.1083C>T	5.37:g.31551423C>T						C5orf22_ENST00000325366.9_Silent_p.C361C|C5orf22_ENST00000504866.1_3'UTR	p.C82C			Q49AR2	CE022_HUMAN			9	1408	+			361					Q8ND28|Q8WU61|Q9NUR1	Silent	SNP	ENST00000325366.9	37	c.246C>T	CCDS3895.1																																																																																				0.328	C5orf22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253726.2	NM_018356		52	83	0	0	0	1	0	52	83					T	31551423	C	T	31551423	2	4	435	1	0	0	0	0	0	0	0	1	2285	776	27	1		1	C5orf22	5	31551423	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	87042	31551423	149363837	2609	23534											
PDZD2	23037	broad.mit.edu	37	chr5	32061205	32061205	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtaaatgccctccaggacccGttcgccttgtcatcggccgg	6	9	11	15	4	1	0	1	0	0	0	4	1	2	1	5	3	1	2	5	3	2	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:32061205G>A	ENST00000438447.1	+	14	2804	c.2416G>A	c.(2416-2418)Gtt>Att	p.V806I	PDZD2_ENST00000282493.3_Missense_Mutation_p.V806I			O15018	PDZD2_HUMAN	PDZ domain containing 2	806	PDZ 4. {ECO:0000255|PROSITE- ProRule:PRU00143}.				cell adhesion (GO:0007155)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|nucleus (GO:0005634)				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						TCCAGGACCCGTTCGCCTTGT	0.537																																						ENST00000438447.1																			0				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						c.(2416-2418)Gtt>Att		PDZ domain containing 2							94	76	82					5																	32061205		2203	4300	6503	SO:0001583	missense	23037				cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus		g.chr5:32061205G>A	AB002298	CCDS34137.1	5p14.1	2008-02-05	2006-01-24	2006-01-24		ENSG00000133401			18486	protein-coding gene	gene with protein product		610697	"PDZ domain containing 3"	PDZK3		9205841	Standard	XM_005248271		Approved	KIAA0300	uc003jhm.3	O15018		ENST00000438447.1:c.2416G>A	5.37:g.32061205G>A	ENSP00000402033:p.Val806Ile					PDZD2_ENST00000282493.3_Missense_Mutation_p.V806I	p.V806I			O15018	PDZD2_HUMAN			14	2804	+			806			PDZ 4.		Q9BXD4	Missense_Mutation	SNP	ENST00000438447.1	37	c.2416G>A	CCDS34137.1	.	.	.	.	.	.	.	.	.	.	G	35	5.448731	0.96205	.	.	ENSG00000133401	ENST00000438447;ENST00000282493	T;T	0.25579	1.79;1.79	5.76	5.76	0.90799	PDZ/DHR/GLGF (3);	0.000000	0.43110	D	0.000604	T	0.46678	0.1405	L	0.49256	1.55	0.58432	D	0.999998	D;D	0.89917	0.992;1.0	P;D	0.87578	0.636;0.998	T	0.13469	-1.0508	10	0.40728	T	0.16	.	17.4751	0.87657	0.0:0.0:1.0:0.0	.	632;806	B4E3P2;O15018	.;PDZD2_HUMAN	I	806	ENSP00000402033:V806I;ENSP00000282493:V806I	ENSP00000282493:V806I	V	+	1	0	PDZD2	32096962	1.000000	0.71417	0.884000	0.34674	0.975000	0.68041	7.417000	0.80156	2.726000	0.93360	0.655000	0.94253	GTT		0.537	PDZD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366608.1			18	31	0	0	0	1	0	18	31					A	32061205	G	A	32061205	3	1	435	1	0	0	0	0	1	0	0	0	11701	1145	40	1	2466	1	PDZD2	5	32061205	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	509782	32061205	148854055	2610	23535											
GOLPH3	64083	broad.mit.edu	37	chr5	32126482	32126482	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attctccaggacgtccgaggCatgagccaggtaaatgaggg	11	7	14	9	2	1	2	0	2	1	0	3	4	2	3	3	4	1	2	3	4	2	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:32126482C>T	ENST00000265070.6	-	4	1048	c.733G>A	c.(733-735)Gcc>Acc	p.A245T	GOLPH3_ENST00000512668.1_5'Flank	NM_022130.3	NP_071413.1	Q9H4A6	GOLP3_HUMAN	golgi phosphoprotein 3 (coat-protein)	245					cell adhesion molecule production (GO:0060352)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|gene expression (GO:0010467)|glycoprotein biosynthetic process (GO:0009101)|Golgi organization (GO:0007030)|Golgi to plasma membrane protein transport (GO:0043001)|Golgi vesicle budding (GO:0048194)|lamellipodium assembly (GO:0030032)|leukocyte tethering or rolling (GO:0050901)|positive regulation of protein secretion (GO:0050714)|positive regulation of TOR signaling (GO:0032008)|protein retention in Golgi apparatus (GO:0045053)|protein secretion (GO:0009306)|regulation of mitochondrion organization (GO:0010821)	cytosol (GO:0005829)|endosome (GO:0005768)|Golgi cisterna (GO:0031985)|Golgi membrane (GO:0000139)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	enzyme binding (GO:0019899)|phosphatidylinositol-4-phosphate binding (GO:0070273)			kidney(2)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	11						ACGTCCGAGGCATGAGCCAGG	0.537																																						ENST00000265070.6																			0				kidney(2)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	11						c.(733-735)Gcc>Acc		golgi phosphoprotein 3 (coat-protein)							138	119	125					5																	32126482		2203	4300	6503	SO:0001583	missense	64083				cell proliferation|positive regulation of TOR signaling cascade|regulation of mitochondrion organization	cytosol|endosome|Golgi cisterna membrane|mitochondrial intermembrane space|plasma membrane|trans-Golgi network	protein binding	g.chr5:32126482C>T	AK075156	CCDS3896.1	5p13.2	2008-07-18			ENSG00000113384	ENSG00000113384			15452	protein-coding gene	gene with protein product	"golgi peripheral membrane protein 1, 34 kDa", "golgi protein", "coat-protein", "golgi-associated protein"	612207				11042173, 16263763	Standard	NM_022130		Approved	GPP34, GOPP1, MIDAS	uc003jhp.1	Q9H4A6	OTTHUMG00000090679	ENST00000265070.6:c.733G>A	5.37:g.32126482C>T	ENSP00000265070:p.Ala245Thr						p.A245T	NM_022130.3	NP_071413.1	Q9H4A6	GOLP3_HUMAN			4	1048	-			245					Q9UIW5	Missense_Mutation	SNP	ENST00000265070.6	37	c.733G>A	CCDS3896.1	.	.	.	.	.	.	.	.	.	.	C	12.35	1.910610	0.33721	.	.	ENSG00000113384	ENST00000265070;ENST00000542582	.	.	.	6.17	5.3	0.74995	.	0.051573	0.85682	D	0.000000	T	0.74107	0.3673	M	0.86268	2.805	0.80722	D	1	P	0.38148	0.62	P	0.46629	0.522	T	0.77487	-0.2569	9	0.59425	D	0.04	.	14.5739	0.68232	0.2662:0.7338:0.0:0.0	.	245	Q9H4A6	GOLP3_HUMAN	T	245;228	.	ENSP00000265070:A245T	A	-	1	0	GOLPH3	32162239	1.000000	0.71417	0.995000	0.50966	0.016000	0.09150	4.700000	0.61803	1.606000	0.50161	-0.182000	0.12963	GCC		0.537	GOLPH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207363.2	NM_022130		14	38	0	0	0	1	0	14	38					T	32126482	C	T	32126482	3	4	435	1	0	0	0	0	1	0	0	0	6568	710	25	3	167	3	GOLPH3	5	32126482	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	65277	32126482	148788778	2611	23536											
GOLPH3	64083	broad.mit.edu	37	chr5	32135758	32135758	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcagagcttcatcaagaagaAcatcccctgttggagcatct	12	10	8	11	0	4	3	3	0	1	3	5	4	5	4	2	1	3	3	2	1	3	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:32135758A>G	ENST00000265070.6	-	3	707	c.392T>C	c.(391-393)gTt>gCt	p.V131A	GOLPH3_ENST00000512668.1_5'UTR|Y_RNA_ENST00000363195.1_RNA	NM_022130.3	NP_071413.1	Q9H4A6	GOLP3_HUMAN	golgi phosphoprotein 3 (coat-protein)	131					cell adhesion molecule production (GO:0060352)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|gene expression (GO:0010467)|glycoprotein biosynthetic process (GO:0009101)|Golgi organization (GO:0007030)|Golgi to plasma membrane protein transport (GO:0043001)|Golgi vesicle budding (GO:0048194)|lamellipodium assembly (GO:0030032)|leukocyte tethering or rolling (GO:0050901)|positive regulation of protein secretion (GO:0050714)|positive regulation of TOR signaling (GO:0032008)|protein retention in Golgi apparatus (GO:0045053)|protein secretion (GO:0009306)|regulation of mitochondrion organization (GO:0010821)	cytosol (GO:0005829)|endosome (GO:0005768)|Golgi cisterna (GO:0031985)|Golgi membrane (GO:0000139)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	enzyme binding (GO:0019899)|phosphatidylinositol-4-phosphate binding (GO:0070273)			kidney(2)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	11						ATCAAGAAGAACATCCCCTGT	0.398																																						ENST00000265070.6																			0				kidney(2)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	11						c.(391-393)gTt>gCt		golgi phosphoprotein 3 (coat-protein)							116	112	114					5																	32135758		2203	4300	6503	SO:0001583	missense	64083				cell proliferation|positive regulation of TOR signaling cascade|regulation of mitochondrion organization	cytosol|endosome|Golgi cisterna membrane|mitochondrial intermembrane space|plasma membrane|trans-Golgi network	protein binding	g.chr5:32135758A>G	AK075156	CCDS3896.1	5p13.2	2008-07-18			ENSG00000113384	ENSG00000113384			15452	protein-coding gene	gene with protein product	"golgi peripheral membrane protein 1, 34 kDa", "golgi protein", "coat-protein", "golgi-associated protein"	612207				11042173, 16263763	Standard	NM_022130		Approved	GPP34, GOPP1, MIDAS	uc003jhp.1	Q9H4A6	OTTHUMG00000090679	ENST00000265070.6:c.392T>C	5.37:g.32135758A>G	ENSP00000265070:p.Val131Ala					GOLPH3_ENST00000512668.1_5'UTR	p.V131A	NM_022130.3	NP_071413.1	Q9H4A6	GOLP3_HUMAN			3	707	-			131					Q9UIW5	Missense_Mutation	SNP	ENST00000265070.6	37	c.392T>C	CCDS3896.1	.	.	.	.	.	.	.	.	.	.	A	22.6	4.305484	0.81247	.	.	ENSG00000113384	ENST00000265070;ENST00000542582	.	.	.	5.38	5.38	0.77491	.	0.108327	0.64402	D	0.000007	T	0.75162	0.3812	M	0.82056	2.57	0.80722	D	1	B	0.19706	0.038	B	0.39617	0.305	T	0.71797	-0.4484	9	0.27785	T	0.31	.	15.7265	0.77763	1.0:0.0:0.0:0.0	.	131	Q9H4A6	GOLP3_HUMAN	A	131;114	.	ENSP00000265070:V131A	V	-	2	0	GOLPH3	32171515	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.229000	0.95273	2.183000	0.69458	0.524000	0.50904	GTT		0.398	GOLPH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207363.2	NM_022130		22	49	0	0	0	1	0	22	49					G	32135758	A	G	32135758	3	3	435	1	0	0	0	0	1	0	0	0	6568	43	2	4	512	4	GOLPH3	5	32135758	Missense_Mutation	SNP	A	TCGA-XK-AAIW-01A-11D-A41K-08	9276	32135758	148779502	2612	23537											
MTMR12	54545	broad.mit.edu	37	chr5	32230195	32230195	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttgggcttctggaatccaacGtaggtagcgctgggcccaga	8	9	14	10	2	1	1	0	0	1	1	2	2	2	2	2	4	2	4	2	4	4	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:32230195G>A	ENST00000382142.3	-	16	2103	c.1933C>T	c.(1933-1935)Cgt>Tgt	p.R645C	MTMR12_ENST00000264934.5_Missense_Mutation_p.R535C|MTMR12_ENST00000280285.5_Missense_Mutation_p.R591C|MTMR12_ENST00000510216.1_5'UTR	NM_001040446.1	NP_001035536.1	Q9C0I1	MTMRC_HUMAN	myotubularin related protein 12	645						cytoplasm (GO:0005737)	phosphatase activity (GO:0016791)			breast(3)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						GGAATCCAACGTAGGTAGCGC	0.502																																						ENST00000382142.3																			0				breast(3)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						c.(1933-1935)Cgt>Tgt		myotubularin related protein 12							104	109	108					5																	32230195		2203	4300	6503	SO:0001583	missense	54545					cytoplasm	phosphatase activity	g.chr5:32230195G>A	AB051469	CCDS34138.1, CCDS75230.1	5p15.33	2011-06-09	2005-04-07	2005-04-07	ENSG00000150712	ENSG00000150712		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"	18191	protein-coding gene	gene with protein product		606501	"phosphatidylinositol-3-phosphate associated protein"	PIP3AP		11504939, 12495846	Standard	XM_005248313		Approved	3-PAP, FLJ20476, KIAA1682, 3PAP	uc003jhq.3	Q9C0I1	OTTHUMG00000161978	ENST00000382142.3:c.1933C>T	5.37:g.32230195G>A	ENSP00000371577:p.Arg645Cys					MTMR12_ENST00000510216.1_5'UTR|MTMR12_ENST00000280285.5_Missense_Mutation_p.R591C|MTMR12_ENST00000264934.5_Missense_Mutation_p.R535C	p.R645C	NM_001040446.1	NP_001035536.1	Q9C0I1	MTMRC_HUMAN			16	2103	-			645					Q69YJ4|Q6PFW3|Q96QU2|Q9NX27	Missense_Mutation	SNP	ENST00000382142.3	37	c.1933C>T	CCDS34138.1	.	.	.	.	.	.	.	.	.	.	G	19.35	3.809937	0.70797	.	.	ENSG00000150712	ENST00000280285;ENST00000382142;ENST00000264934	T;T;T	0.66280	-0.2;-0.2;-0.2	5.78	5.78	0.91487	.	0.055846	0.64402	D	0.000001	T	0.80105	0.4562	M	0.71581	2.175	0.49389	D	0.999785	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.998;0.998;0.999	T	0.80901	-0.1175	10	0.87932	D	0	.	19.9981	0.97395	0.0:0.0:1.0:0.0	.	535;591;645	Q9C0I1-3;Q9C0I1-2;Q9C0I1	.;.;MTMRC_HUMAN	C	591;645;535	ENSP00000280285:R591C;ENSP00000371577:R645C;ENSP00000264934:R535C	ENSP00000264934:R535C	R	-	1	0	MTMR12	32265952	1.000000	0.71417	0.998000	0.56505	0.226000	0.24999	7.805000	0.86005	2.733000	0.93635	0.561000	0.74099	CGT		0.502	MTMR12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366579.1	NM_019061		69	89	0	0	0	1	0	69	89					A	32230195	G	A	32230195	3	1	435	1	0	0	0	0	1	0	0	0	9941	1145	40	1	314	1	MTMR12	5	32230195	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	94437	32230195	148685065	2613	23538											
ZFR	51663	broad.mit.edu	37	chr5	32390446	32390446	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	aaggcctaatgggcctggagGaccatgaggataacctccat	12	7	12	10	0	0	1	0	1	0	0	1	4	1	4	5	5	1	0	5	5	3	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:32390446G>A	ENST00000265069.8	-	12	2179	c.2077C>T	c.(2077-2079)Cct>Tct	p.P693S		NM_016107.3	NP_057191.2	Q96KR1	ZFR_HUMAN	zinc finger RNA binding protein	693					multicellular organismal development (GO:0007275)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|upper_aerodigestive_tract(2)	32				STAD - Stomach adenocarcinoma(35;0.19)		GGGCCTGGAGGACCATGAGGA	0.552																																						ENST00000265069.8																			0				breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|upper_aerodigestive_tract(2)	32						c.(2077-2079)Cct>Tct		zinc finger RNA binding protein							140	132	135					5																	32390446		2203	4300	6503	SO:0001583	missense	51663				multicellular organismal development	chromosome|cytoplasm|nucleus	DNA binding|RNA binding|zinc ion binding	g.chr5:32390446G>A	AF100742	CCDS34139.1	5p15.2	2014-03-03			ENSG00000056097	ENSG00000056097			17277	protein-coding gene	gene with protein product		615635				11574164, 24482476	Standard	NM_016107		Approved	ZFR1, SPG71	uc003jhr.1	Q96KR1	OTTHUMG00000161979	ENST00000265069.8:c.2077C>T	5.37:g.32390446G>A	ENSP00000265069:p.Pro693Ser						p.P693S	NM_016107.3	NP_057191.2	Q96KR1	ZFR_HUMAN		STAD - Stomach adenocarcinoma(35;0.19)	12	2179	-			693					B2RNR5|Q05C08|Q3B7X5|Q6P5A3|Q86UA0|Q9H6V4|Q9NTI1|Q9Y687	Missense_Mutation	SNP	ENST00000265069.8	37	c.2077C>T	CCDS34139.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.973601	0.74246	.	.	ENSG00000056097	ENST00000265069;ENST00000382126	T	0.06218	3.33	5.42	5.42	0.78866	.	0.000000	0.85682	D	0.000000	T	0.21674	0.0522	L	0.51914	1.62	0.80722	D	1	D	0.63880	0.993	D	0.70227	0.968	T	0.00112	-1.2044	10	0.72032	D	0.01	.	19.2198	0.93791	0.0:0.0:1.0:0.0	.	693	Q96KR1	ZFR_HUMAN	S	693;671	ENSP00000265069:P693S	ENSP00000265069:P693S	P	-	1	0	ZFR	32426203	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.170000	0.94795	2.550000	0.86006	0.561000	0.74099	CCT		0.552	ZFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366586.1			23	31	0	0	0	1	0	23	31					A	32390446	G	A	32390446	3	1	435	1	0	0	0	0	1	0	0	0	17656	1174	41	3	1183	3	ZFR	5	32390446	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	160251	32390446	148524814	2614	23539											
ZFR	51663	broad.mit.edu	37	chr5	32397417	32397417	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcataatttacaatggaaccGaattacttttccttcatcat	13	15	4	9	1	2	0	2	0	0	0	3	2	3	1	2	1	3	1	2	1	6	7			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:32397417G>A	ENST00000265069.8	-	10	1843	c.1741C>T	c.(1741-1743)Cgg>Tgg	p.R581W	MIR579_ENST00000385221.1_RNA	NM_016107.3	NP_057191.2	Q96KR1	ZFR_HUMAN	zinc finger RNA binding protein	581					multicellular organismal development (GO:0007275)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|upper_aerodigestive_tract(2)	32				STAD - Stomach adenocarcinoma(35;0.19)		CAATGGAACCGAATTACTTTT	0.343																																						ENST00000265069.8																			0				breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|upper_aerodigestive_tract(2)	32						c.(1741-1743)Cgg>Tgg		zinc finger RNA binding protein							130	127	128					5																	32397417		2203	4299	6502	SO:0001583	missense	51663				multicellular organismal development	chromosome|cytoplasm|nucleus	DNA binding|RNA binding|zinc ion binding	g.chr5:32397417G>A	AF100742	CCDS34139.1	5p15.2	2014-03-03			ENSG00000056097	ENSG00000056097			17277	protein-coding gene	gene with protein product		615635				11574164, 24482476	Standard	NM_016107		Approved	ZFR1, SPG71	uc003jhr.1	Q96KR1	OTTHUMG00000161979	ENST00000265069.8:c.1741C>T	5.37:g.32397417G>A	ENSP00000265069:p.Arg581Trp						p.R581W	NM_016107.3	NP_057191.2	Q96KR1	ZFR_HUMAN		STAD - Stomach adenocarcinoma(35;0.19)	10	1843	-			581					B2RNR5|Q05C08|Q3B7X5|Q6P5A3|Q86UA0|Q9H6V4|Q9NTI1|Q9Y687	Missense_Mutation	SNP	ENST00000265069.8	37	c.1741C>T	CCDS34139.1	.	.	.	.	.	.	.	.	.	.	G	24.3	4.517495	0.85495	.	.	ENSG00000056097	ENST00000265069;ENST00000382126	T	0.47177	0.85	5.65	2.74	0.32292	Zinc finger, U1-type (1);	0.050005	0.85682	D	0.000000	T	0.61652	0.2364	M	0.72118	2.19	0.58432	D	0.999999	D	0.89917	1.0	P	0.57324	0.818	T	0.65969	-0.6039	10	0.87932	D	0	.	14.5474	0.68041	0.0:0.0:0.5919:0.4081	.	581	Q96KR1	ZFR_HUMAN	W	581;559	ENSP00000265069:R581W	ENSP00000265069:R581W	R	-	1	2	ZFR	32433174	1.000000	0.71417	0.969000	0.41365	0.996000	0.88848	5.479000	0.66813	0.256000	0.21614	0.591000	0.81541	CGG		0.343	ZFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366586.1			30	49	0	0	0	1	0	30	49					A	32397417	G	A	32397417	3	1	435	1	0	0	0	0	1	0	0	0	17656	1057	37	2	1527	2	ZFR	5	32397417	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	6971	32397417	148517843	2615	23540											
TARS	6897	broad.mit.edu	37	chr5	33467737	33467737	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caataaggtccacggggaacGcaccatttctgaaactatcg	13	8	9	11	3	1	1	0	1	1	0	3	2	2	2	2	3	2	1	2	3	5	3	rs200221822		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:33467737G>A	ENST00000265112.3	+	19	2407	c.2096G>A	c.(2095-2097)cGc>cAc	p.R699H	TARS_ENST00000502553.1_Missense_Mutation_p.R699H|TARS_ENST00000541634.1_Missense_Mutation_p.R595H|TARS_ENST00000455217.2_Missense_Mutation_p.R732H|TARS_ENST00000414361.2_Missense_Mutation_p.R578H	NM_152295.4	NP_689508.3	P26639	SYTC_HUMAN	threonyl-tRNA synthetase	699					gene expression (GO:0010467)|threonyl-tRNA aminoacylation (GO:0006435)|translation (GO:0006412)|tRNA aminoacylation for protein translation (GO:0006418)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|protein homodimerization activity (GO:0042803)|threonine-tRNA ligase activity (GO:0004829)			NS(1)|biliary_tract(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)	29					L-Threonine(DB00156)	CACGGGGAACGCACCATTTCT	0.423																																						ENST00000265112.3																			0				NS(1)|biliary_tract(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)	29						c.(2095-2097)cGc>cAc		threonyl-tRNA synthetase	L-Threonine(DB00156)	G	HIS/ARG	0,4406		0,0,2203	65	64	65		2096	5.2	0.5	5		65	1,8599	1.2+/-3.3	0,1,4299	yes	missense	TARS	NM_152295.3	29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	699/724	33467737	1,13005	2203	4300	6503	SO:0001583	missense	6897				threonyl-tRNA aminoacylation	cytosol	ATP binding|protein homodimerization activity|threonine-tRNA ligase activity	g.chr5:33467737G>A	AK095852	CCDS3899.1, CCDS58943.1	5p13.2	2012-10-02			ENSG00000113407	ENSG00000113407	6.1.1.3	"Aminoacyl tRNA synthetases / Class II"	11572	protein-coding gene	gene with protein product	"threonine tRNA ligase 1, cytoplasmic"	187790					Standard	NM_152295		Approved		uc011coc.3	P26639	OTTHUMG00000090683	ENST00000265112.3:c.2096G>A	5.37:g.33467737G>A	ENSP00000265112:p.Arg699His					TARS_ENST00000414361.2_Missense_Mutation_p.R578H|TARS_ENST00000541634.1_Missense_Mutation_p.R595H|TARS_ENST00000455217.2_Missense_Mutation_p.R732H|TARS_ENST00000502553.1_Missense_Mutation_p.R699H	p.R699H	NM_152295.4	NP_689508.3	P26639	SYTC_HUMAN			19	2407	+			699					A8K8I1|B4DEG8|Q96FP5|Q9BWA6	Missense_Mutation	SNP	ENST00000265112.3	37	c.2096G>A	CCDS3899.1	.	.	.	.	.	.	.	.	.	.	g	11.11	1.541186	0.27563	0.0	1.16E-4	ENSG00000113407	ENST00000502553;ENST00000265112;ENST00000541634;ENST00000455217;ENST00000414361	D;D;D;D;D	0.82344	-1.6;-1.6;-1.6;-1.6;-1.6	5.2	5.2	0.72013	Anticodon-binding (3);	0.000000	0.85682	D	0.000000	T	0.72779	0.3503	N	0.20766	0.605	0.80722	D	1	B;B;B;B	0.18610	0.007;0.029;0.005;0.007	B;B;B;B	0.13407	0.009;0.009;0.005;0.009	T	0.67256	-0.5716	10	0.15066	T	0.55	-17.8947	18.7427	0.91780	0.0:0.0:1.0:0.0	.	578;732;595;699	E7ERI3;B4DEG8;G3XAN9;P26639	.;.;.;SYTC_HUMAN	H	699;699;595;732;578	ENSP00000424387:R699H;ENSP00000265112:R699H;ENSP00000438469:R595H;ENSP00000387710:R732H;ENSP00000394291:R578H	ENSP00000265112:R699H	R	+	2	0	TARS	33503494	0.996000	0.38824	0.455000	0.27031	0.603000	0.37013	3.221000	0.51215	2.418000	0.82041	0.557000	0.71058	CGC		0.423	TARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207367.1	NM_152295		19	27	0	0	0	1	0	19	27					A	33467737	G	A	33467737	3	1	435	1	0	0	0	0	1	0	0	0	15556	1087	38	1	2170	1	TARS	5	33467737	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	1070320	33467737	147447523	2616	23541											
SLC45A2	51151	broad.mit.edu	37	chr5	33951686	33951686	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagtgaggaaaacacggagtTgatgcacaagccccaacatc	16	5	10	10	1	0	2	0	2	0	0	1	4	0	4	2	2	4	2	2	2	5	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:33951686T>C	ENST00000296589.4	-	5	1275	c.1129A>G	c.(1129-1131)Aac>Gac	p.N377D	SLC45A2_ENST00000342059.3_Missense_Mutation_p.N318D|SLC45A2_ENST00000345083.5_Missense_Mutation_p.N269D|SLC45A2_ENST00000382102.3_Missense_Mutation_p.N377D|SLC45A2_ENST00000509381.1_3'UTR	NM_016180.3	NP_057264	Q9UMX9	S45A2_HUMAN	solute carrier family 45, member 2	377					developmental pigmentation (GO:0048066)|melanin biosynthetic process (GO:0042438)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(25)|ovary(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48						AACACGGAGTTGATGCACAAG	0.433																																					Ovarian(31;380 859 8490 22203 49048)	ENST00000382102.3																			0				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(25)|ovary(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48						c.(1129-1131)Aac>Gac		solute carrier family 45, member 2							162	138	146					5																	33951686		2203	4300	6503	SO:0001583	missense	51151				melanin biosynthetic process|response to stimulus|transmembrane transport|visual perception	integral to membrane|melanosome membrane		g.chr5:33951686T>C	AF172849	CCDS3901.1, CCDS43308.1, CCDS75232.1	5p13.3	2013-08-06	2005-10-06	2005-10-06	ENSG00000164175	ENSG00000164175		"Solute carriers"	16472	protein-coding gene	gene with protein product		606202	"membrane associated transporter"	MATP		11916009, 11574907	Standard	NM_001012509		Approved	AIM-1, OCA4	uc003jid.3	Q9UMX9	OTTHUMG00000090719	ENST00000296589.4:c.1129A>G	5.37:g.33951686T>C	ENSP00000296589:p.Asn377Asp					SLC45A2_ENST00000296589.4_Missense_Mutation_p.N377D|SLC45A2_ENST00000342059.3_Missense_Mutation_p.N318D|SLC45A2_ENST00000345083.5_Missense_Mutation_p.N269D|SLC45A2_ENST00000509381.1_3'UTR	p.N377D	NM_001012509.2	NP_001012527.1	Q9UMX9	S45A2_HUMAN			5	1186	-			377					Q6P2P0|Q9BTM3	Missense_Mutation	SNP	ENST00000296589.4	37	c.1129A>G	CCDS3901.1	.	.	.	.	.	.	.	.	.	.	T	23.9	4.472507	0.84640	.	.	ENSG00000164175	ENST00000296589;ENST00000342059;ENST00000382102;ENST00000510600;ENST00000345083	D;D;D;D;D	0.89485	-1.55;-1.55;-1.55;-1.55;-2.52	6.08	6.08	0.98989	Major facilitator superfamily domain, general substrate transporter (1);	0.000000	0.85682	D	0.000000	D	0.93481	0.7920	M	0.69248	2.105	0.35618	D	0.809201	D;B	0.76494	0.999;0.236	D;B	0.71656	0.974;0.261	D	0.95362	0.8456	10	0.46703	T	0.11	-24.8651	16.6438	0.85155	0.0:0.0:0.0:1.0	.	377;377	Q9UMX9-4;Q9UMX9	.;S45A2_HUMAN	D	377;318;377;202;269	ENSP00000296589:N377D;ENSP00000341014:N318D;ENSP00000371534:N377D;ENSP00000424010:N202D;ENSP00000340444:N269D	ENSP00000296589:N377D	N	-	1	0	SLC45A2	33987443	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	7.765000	0.85310	2.333000	0.79357	0.533000	0.62120	AAC		0.433	SLC45A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207443.2	NM_016180		40	48	0	0	0	1	0	40	48					C	33951686	T	C	33951686	3	2	435	1	0	0	0	0	1	0	0	0	14641	1812	63	4	490	4	SLC45A2	5	33951686	Missense_Mutation	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	483949	33951686	146963574	2617	23542											
AMACR	23600	broad.mit.edu	37	chr5	34005919	34005919	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cggcagaagcttcctgactgGccaaatccactcagcctggc	9	7	10	15	1	1	2	1	1	0	1	3	2	3	2	4	3	2	2	4	3	2	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:34005919G>A	ENST00000335606.6	-	2	421	c.333C>T	c.(331-333)ggC>ggT	p.G111G	AMACR_ENST00000426255.2_Silent_p.G111G|AMACR_ENST00000382068.3_Silent_p.G111G|AMACR_ENST00000502637.1_Silent_p.G111G|AMACR_ENST00000382072.2_Silent_p.G111G|AMACR_ENST00000512079.1_Silent_p.G111G|AMACR_ENST00000382085.3_Silent_p.G111G|AMACR_ENST00000514195.1_5'UTR|RP11-1084J3.4_ENST00000382079.3_Missense_Mutation_p.P259S|AMACR_ENST00000441713.2_Silent_p.G111G	NM_001167595.1|NM_014324.5	NP_001161067.1|NP_055139.4	Q9UHK6	AMACR_HUMAN	alpha-methylacyl-CoA racemase	111					bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	alpha-methylacyl-CoA racemase activity (GO:0008111)|receptor binding (GO:0005102)			endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|stomach(1)|urinary_tract(1)	19						TTCCTGACTGGCCAAATCCAC	0.433																																						ENST00000335606.6																			0				endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|stomach(1)|urinary_tract(1)	19						c.(331-333)ggC>ggT		alpha-methylacyl-CoA racemase							55	59	58					5																	34005919		2203	4300	6503	SO:0001819	synonymous_variant	23600				bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase	mitochondrion|peroxisomal matrix	alpha-methylacyl-CoA racemase activity	g.chr5:34005919G>A	AF047020	CCDS3902.1, CCDS3903.1, CCDS54836.1	5p13.2	2012-05-16			ENSG00000242110	ENSG00000242110	5.1.99.4		451	protein-coding gene	gene with protein product		604489				9307041	Standard	NM_014324		Approved	RACE	uc003jij.3	Q9UHK6	OTTHUMG00000090734	ENST00000335606.6:c.333C>T	5.37:g.34005919G>A						AMACR_ENST00000441713.2_Silent_p.G111G|AMACR_ENST00000514195.1_5'UTR|AMACR_ENST00000502637.1_Silent_p.G111G|AMACR_ENST00000382085.3_Silent_p.G111G|AMACR_ENST00000382072.2_Silent_p.G111G	p.G111G	NM_001167595.1|NM_014324.5	NP_001161067.1|NP_055139.4	Q9UHK6	AMACR_HUMAN			2	421	-			111					A5YM47|B8Y916|B8Y918|F8W9N1|O43673|Q3KT79|Q96GH1|Q9Y3Q1	Silent	SNP	ENST00000335606.6	37	c.333C>T	CCDS3902.1																																																																																				0.433	AMACR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207467.1	NM_014324		5	58	0	0	0	1	0	5	58					A	34005919	G	A	34005919	2	1	435	1	0	0	0	0	0	0	0	1	562	1190	42	3		3	AMACR	5	34005919	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	54233	34005919	146909341	2618	23543											
RAI14	26064	broad.mit.edu	37	chr5	34811225	34811225	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccaggaacaaaagtggaaggTactccagaattaggcagaaa	18	5	11	7	0	0	2	0	0	0	2	1	4	1	4	2	4	2	2	2	4	8	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:34811225T>C	ENST00000265109.3	+	8	844		c.e8+2		RAI14_ENST00000503673.1_Splice_Site|RAI14_ENST00000506376.1_Splice_Site|RAI14_ENST00000428746.2_Splice_Site|RAI14_ENST00000515799.1_Splice_Site|RAI14_ENST00000397449.1_Splice_Site|RAI14_ENST00000512629.1_Splice_Site	NM_001145522.1|NM_015577.2	NP_001138994.1|NP_056392.2	Q9P0K7	RAI14_HUMAN	retinoic acid induced 14							actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(19)|lung(22)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(31;0.000191)					AAGTGGAAGGTACTCCAGAAT	0.398																																						ENST00000265109.3																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(19)|lung(22)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						c.e8+2		retinoic acid induced 14							145	137	140					5																	34811225		2203	4300	6503	SO:0001630	splice_region_variant	26064					cell cortex|cytoskeleton	protein binding	g.chr5:34811225T>C	AB037755	CCDS34142.1, CCDS54837.1, CCDS54838.1, CCDS54839.1	5p13.3-p13.2	2013-01-10			ENSG00000039560	ENSG00000039560		"Ankyrin repeat domain containing"	14873	protein-coding gene	gene with protein product	"novel retinal pigment epithelial"	606586				11042181	Standard	NM_015577		Approved	NORPEG, KIAA1334, RAI13, DKFZp564G013	uc011coj.2	Q9P0K7	OTTHUMG00000162019	ENST00000265109.3:c.557+2T>C	5.37:g.34811225T>C						RAI14_ENST00000397449.1_Splice_Site|RAI14_ENST00000428746.2_Splice_Site|RAI14_ENST00000515799.1_Splice_Site|RAI14_ENST00000503673.1_Splice_Site|RAI14_ENST00000512629.1_Splice_Site|RAI14_ENST00000506376.1_Splice_Site		NM_001145522.1|NM_015577.2	NP_001138994.1|NP_056392.2	Q9P0K7	RAI14_HUMAN			8	844	+	all_lung(31;0.000191)							E9PED3|Q6V1W9|Q7Z5I4|Q7Z733|Q9P2L2|Q9Y3T5	Splice_Site	SNP	ENST00000265109.3	37		CCDS34142.1	.	.	.	.	.	.	.	.	.	.	T	19.75	3.886074	0.72410	.	.	ENSG00000039560	ENST00000265109;ENST00000512629;ENST00000428746;ENST00000503673;ENST00000515799;ENST00000506376;ENST00000397449	.	.	.	5.68	5.68	0.88126	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.9191	0.79547	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	RAI14	34846982	1.000000	0.71417	1.000000	0.80357	0.810000	0.45777	5.723000	0.68492	2.156000	0.67533	0.477000	0.44152	.		0.398	RAI14-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366786.1	NM_015577	Intron	11	95	0	0	0	1	0	11	95					C	34811225	T	C	34811225	5	2	435	1	0	0	0	0	0	0	1	0	13008	1652	57	4	650	4	RAI14	5	34811225	Splice_Site	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	805306	34811225	146104035	2619	23544											
RAI14	26064	broad.mit.edu	37	chr5	34814747	34814747	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccactatcgggaaaggaatcGgtattttttgctgaaccacc	11	11	9	10	2	0	1	0	1	0	0	2	3	0	3	3	3	2	2	3	3	5	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:34814747G>A	ENST00000265109.3	+	12	1199	c.912G>A	c.(910-912)tcG>tcA	p.S304S	RAI14_ENST00000503673.1_Silent_p.S304S|RAI14_ENST00000506376.1_Silent_p.S296S|RAI14_ENST00000428746.2_Silent_p.S304S|RAI14_ENST00000515799.1_Silent_p.S307S|RAI14_ENST00000397449.1_Silent_p.S297S|RAI14_ENST00000512629.1_Silent_p.S275S	NM_001145522.1|NM_015577.2	NP_001138994.1|NP_056392.2	Q9P0K7	RAI14_HUMAN	retinoic acid induced 14	304						actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(19)|lung(22)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(31;0.000191)					GAAAGGAATCGGTATTTTTTG	0.318																																						ENST00000265109.3																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(19)|lung(22)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						c.(910-912)tcG>tcA		retinoic acid induced 14							172	154	160					5																	34814747		2203	4300	6503	SO:0001819	synonymous_variant	26064					cell cortex|cytoskeleton	protein binding	g.chr5:34814747G>A	AB037755	CCDS34142.1, CCDS54837.1, CCDS54838.1, CCDS54839.1	5p13.3-p13.2	2013-01-10			ENSG00000039560	ENSG00000039560		"Ankyrin repeat domain containing"	14873	protein-coding gene	gene with protein product	"novel retinal pigment epithelial"	606586				11042181	Standard	NM_015577		Approved	NORPEG, KIAA1334, RAI13, DKFZp564G013	uc011coj.2	Q9P0K7	OTTHUMG00000162019	ENST00000265109.3:c.912G>A	5.37:g.34814747G>A						RAI14_ENST00000397449.1_Silent_p.S297S|RAI14_ENST00000428746.2_Silent_p.S304S|RAI14_ENST00000515799.1_Silent_p.S307S|RAI14_ENST00000503673.1_Silent_p.S304S|RAI14_ENST00000512629.1_Silent_p.S275S|RAI14_ENST00000506376.1_Silent_p.S296S	p.S304S	NM_001145522.1|NM_015577.2	NP_001138994.1|NP_056392.2	Q9P0K7	RAI14_HUMAN			12	1199	+	all_lung(31;0.000191)		304					E9PED3|Q6V1W9|Q7Z5I4|Q7Z733|Q9P2L2|Q9Y3T5	Silent	SNP	ENST00000265109.3	37	c.912G>A	CCDS34142.1																																																																																				0.318	RAI14-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366786.1	NM_015577		25	39	0	0	0	1	0	25	39					A	34814747	G	A	34814747	2	1	435	1	0	0	0	0	0	0	0	1	13008	1103	39	2		2	RAI14	5	34814747	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	3522	34814747	146100513	2620	23545											
IL7R	3575	broad.mit.edu	37	chr5	35876342	35876342	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggaatgtcagtgcatgtgaCgcccctattctctcctcttc	6	13	9	13	1	3	1	1	1	2	0	6	2	4	2	3	1	1	1	3	1	2	3	rs150593442	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:35876342C>T	ENST00000303115.3	+	8	1263	c.1134C>T	c.(1132-1134)gaC>gaT	p.D378D	IL7R_ENST00000343305.4_3'UTR	NM_002185.3	NP_002176.2	P16871	IL7RA_HUMAN	interleukin 7 receptor	378					B cell proliferation (GO:0042100)|cell growth (GO:0016049)|cell morphogenesis (GO:0000902)|cell surface receptor signaling pathway (GO:0007166)|homeostasis of number of cells (GO:0048872)|immune response (GO:0006955)|immunoglobulin production (GO:0002377)|interleukin-7-mediated signaling pathway (GO:0038111)|lymph node development (GO:0048535)|negative regulation of T cell mediated cytotoxicity (GO:0001915)|positive regulation of gene expression (GO:0010628)|positive regulation of T cell differentiation in thymus (GO:0033089)|regulation of cell size (GO:0008361)|regulation of DNA recombination (GO:0000018)|signal transduction (GO:0007165)|T cell differentiation (GO:0030217)	external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)|interleukin-7 receptor activity (GO:0004917)			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(78)|kidney(2)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|skin(5)|stomach(3)	126	all_lung(31;0.00015)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.187)|Colorectal(62;0.202)			GTGCATGTGACGCCCCTATTC	0.537			"Mis, O"		"ALL, ETP ALL"		Severe combined immune deficiency																															ENST00000303115.3				Dom	yes		5	5p13	146661	"Mis, O"	interleukin 7 receptor	yes	Severe combined immune deficiency	L			"ALL, ETP ALL"		0				NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(78)|kidney(2)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|skin(5)|stomach(3)	126						c.(1132-1134)gaC>gaT		interleukin 7 receptor		C		1,4405	2.1+/-5.4	0,1,2202	100	90	94		1134	-3.1	0	5	dbSNP_134	94	0,8600		0,0,4300	yes	coding-synonymous	IL7R	NM_002185.2		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		378/460	35876342	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	3575				immune response|regulation of DNA recombination	extracellular region|integral to membrane	antigen binding|interleukin-7 receptor activity	g.chr5:35876342C>T	M29696	CCDS3911.1	5p13	2014-09-17			ENSG00000168685	ENSG00000168685		"Interleukins and interleukin receptors", "CD molecules", "Fibronectin type III domain containing"	6024	protein-coding gene	gene with protein product		146661				2317865	Standard	NM_002185		Approved	CD127	uc003jjs.4	P16871	OTTHUMG00000090791	ENST00000303115.3:c.1134C>T	5.37:g.35876342C>T						IL7R_ENST00000343305.4_3'UTR	p.D378D	NM_002185.3	NP_002176.2	P16871	IL7RA_HUMAN	Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.187)|Colorectal(62;0.202)		8	1263	+	all_lung(31;0.00015)		378					B2RCS6|B4DVT1|Q05CU8|Q6NSP4|Q6NWM0|Q6NWM1|Q6NWM2|Q6NWM3|Q6SV45|Q9UPC1	Silent	SNP	ENST00000303115.3	37	c.1134C>T	CCDS3911.1																																																																																				0.537	IL7R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207577.2			23	29	0	0	0	1	0	23	29					T	35876342	C	T	35876342	2	4	435	1	0	0	0	0	0	0	0	1	7705	535	19	1		1	IL7R	5	35876342	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	1061595	35876342	145038918	2621	23546											
UGT3A2	167127	broad.mit.edu	37	chr5	36039601	36039601	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	aggaggtcactctgaggaagCcagtccacaattttcacatt	12	10	9	10	0	3	1	2	1	1	0	4	3	4	3	2	3	1	0	2	3	2	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:36039601C>T	ENST00000282507.3	-	5	1154	c.1053G>A	c.(1051-1053)tgG>tgA	p.W351*	UGT3A2_ENST00000545528.1_Nonsense_Mutation_p.W49*|UGT3A2_ENST00000513300.1_Nonsense_Mutation_p.W317*|UGT3A2_ENST00000504954.1_5'Flank	NM_174914.3	NP_777574.2	Q3SY77	UD3A2_HUMAN	UDP glycosyltransferase 3 family, polypeptide A2	351					cellular response to genistein (GO:0071412)	integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)|UDP-glycosyltransferase activity (GO:0008194)			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	43	all_lung(31;0.000179)		Lung(74;0.111)|Epithelial(62;0.113)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TCTGAGGAAGCCAGTCCACAA	0.542																																						ENST00000282507.3																			0				NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	43						c.(1051-1053)tgG>tgA		UDP glycosyltransferase 3 family, polypeptide A2							116	103	108					5																	36039601		2203	4300	6503	SO:0001587	stop_gained	167127					integral to membrane	glucuronosyltransferase activity	g.chr5:36039601C>T		CCDS3914.1, CCDS54842.1	5p13.2	2014-05-20			ENSG00000168671	ENSG00000168671		"UDP glucuronosyltransferases"	27266	protein-coding gene	gene with protein product						12975309	Standard	NM_174914		Approved		uc003jjz.2	Q3SY77	OTTHUMG00000131108	ENST00000282507.3:c.1053G>A	5.37:g.36039601C>T	ENSP00000282507:p.Trp351*					UGT3A2_ENST00000513300.1_Nonsense_Mutation_p.W317*|UGT3A2_ENST00000545528.1_Nonsense_Mutation_p.W49*	p.W351*	NM_174914.3	NP_777574.2	Q3SY77	UD3A2_HUMAN	Lung(74;0.111)|Epithelial(62;0.113)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		5	1154	-	all_lung(31;0.000179)		351					B4DUQ7|E9PFK7|Q6UXC4|Q8NBP2	Nonsense_Mutation	SNP	ENST00000282507.3	37	c.1053G>A	CCDS3914.1	.	.	.	.	.	.	.	.	.	.	C	18.87	3.714682	0.68730	.	.	ENSG00000168671	ENST00000282507;ENST00000513300;ENST00000545528	.	.	.	3.45	2.56	0.30785	.	0.082213	0.53938	D	0.000060	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.4818	0.55847	0.0:0.8291:0.1709:0.0	.	.	.	.	X	351;317;49	.	ENSP00000282507:W351X	W	-	3	0	UGT3A2	36075358	1.000000	0.71417	0.996000	0.52242	0.613000	0.37349	3.616000	0.54174	1.008000	0.39264	0.655000	0.94253	TGG		0.542	UGT3A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253771.2	NM_174914		16	33	0	0	0	1	0	16	33					T	36039601	C	T	36039601	4	4	435	1	0	0	0	0	0	1	0	0	16961	740	26	3	530	3	UGT3A2	5	36039601	Nonsense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	163259	36039601	144875659	2622	23547											
UGT3A2	167127	broad.mit.edu	37	chr5	36039662	36039662	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggccaatgagaacactgaCacttccatatcaccccttgg	11	9	8	13	0	1	2	1	2	0	1	2	3	2	2	4	2	1	0	4	2	3	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:36039662C>T	ENST00000282507.3	-	5	1093	c.992G>A	c.(991-993)tGt>tAt	p.C331Y	UGT3A2_ENST00000545528.1_Missense_Mutation_p.C29Y|UGT3A2_ENST00000513300.1_Missense_Mutation_p.C297Y|UGT3A2_ENST00000504954.1_5'Flank	NM_174914.3	NP_777574.2	Q3SY77	UD3A2_HUMAN	UDP glycosyltransferase 3 family, polypeptide A2	331					cellular response to genistein (GO:0071412)	integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)|UDP-glycosyltransferase activity (GO:0008194)			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	43	all_lung(31;0.000179)		Lung(74;0.111)|Epithelial(62;0.113)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			AGAACACTGACACTTCCATAT	0.517																																						ENST00000282507.3																			0				NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	43						c.(991-993)tGt>tAt		UDP glycosyltransferase 3 family, polypeptide A2							155	140	145					5																	36039662		2203	4300	6503	SO:0001583	missense	167127					integral to membrane	glucuronosyltransferase activity	g.chr5:36039662C>T		CCDS3914.1, CCDS54842.1	5p13.2	2014-05-20			ENSG00000168671	ENSG00000168671		"UDP glucuronosyltransferases"	27266	protein-coding gene	gene with protein product						12975309	Standard	NM_174914		Approved		uc003jjz.2	Q3SY77	OTTHUMG00000131108	ENST00000282507.3:c.992G>A	5.37:g.36039662C>T	ENSP00000282507:p.Cys331Tyr					UGT3A2_ENST00000513300.1_Missense_Mutation_p.C297Y|UGT3A2_ENST00000545528.1_Missense_Mutation_p.C29Y	p.C331Y	NM_174914.3	NP_777574.2	Q3SY77	UD3A2_HUMAN	Lung(74;0.111)|Epithelial(62;0.113)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		5	1093	-	all_lung(31;0.000179)		331					B4DUQ7|E9PFK7|Q6UXC4|Q8NBP2	Missense_Mutation	SNP	ENST00000282507.3	37	c.992G>A	CCDS3914.1	.	.	.	.	.	.	.	.	.	.	C	0.010	-1.777376	0.00640	.	.	ENSG00000168671	ENST00000282507;ENST00000513300;ENST00000545528	T;T;T	0.53423	0.62;0.62;0.62	3.27	-2.89	0.05665	.	0.256826	0.33959	N	0.004387	T	0.15046	0.0363	N	0.02158	-0.66	0.09310	N	1	B;B	0.15930	0.0;0.015	B;B	0.14023	0.002;0.01	T	0.31166	-0.9953	10	0.02654	T	1	.	11.6743	0.51422	0.0:0.2319:0.0:0.7681	.	297;331	E9PFK7;Q3SY77	.;UD3A2_HUMAN	Y	331;297;29	ENSP00000282507:C331Y;ENSP00000427404:C297Y;ENSP00000445367:C29Y	ENSP00000282507:C331Y	C	-	2	0	UGT3A2	36075419	0.000000	0.05858	0.000000	0.03702	0.070000	0.16714	-1.079000	0.03410	-0.822000	0.04306	0.655000	0.94253	TGT		0.517	UGT3A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253771.2	NM_174914		24	31	0	0	0	1	0	24	31					T	36039662	C	T	36039662	3	4	435	1	0	0	0	0	1	0	0	0	16961	478	17	3	591	3	UGT3A2	5	36039662	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	61	36039662	144875598	2623	23548											
SLC1A3	6507	broad.mit.edu	37	chr5	36608563	36608563	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	agaagagcccaagatgggggGcaggatggagagattccagc	13	4	17	7	0	0	4	0	0	0	4	1	7	1	6	2	5	2	1	2	5	2	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:36608563G>A	ENST00000265113.4	+	2	514	c.38G>A	c.(37-39)gGc>gAc	p.G13D	SLC1A3_ENST00000381918.3_Missense_Mutation_p.G13D|SLC1A3_ENST00000506725.1_3'UTR	NM_004172.4	NP_004163.3	P43003	EAA1_HUMAN	solute carrier family 1 (glial high affinity glutamate transporter), member 3	13					auditory behavior (GO:0031223)|cell morphogenesis involved in neuron differentiation (GO:0048667)|cranial nerve development (GO:0021545)|D-aspartate import (GO:0070779)|gamma-aminobutyric acid biosynthetic process (GO:0009449)|glutamate biosynthetic process (GO:0006537)|ion transport (GO:0006811)|L-glutamate import (GO:0051938)|neuromuscular process controlling balance (GO:0050885)|neurotransmitter uptake (GO:0001504)|positive regulation of synaptic transmission (GO:0050806)|response to antibiotic (GO:0046677)|response to drug (GO:0042493)|response to light stimulus (GO:0009416)|response to wounding (GO:0009611)|sensory perception of sound (GO:0007605)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	cell projection (GO:0042995)|cell surface (GO:0009986)|fibril (GO:0043205)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	glutamate binding (GO:0016595)|high-affinity glutamate transmembrane transporter activity (GO:0005314)|L-glutamate transmembrane transporter activity (GO:0005313)|sodium:dicarboxylate symporter activity (GO:0017153)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(23)|skin(1)	41	all_lung(31;0.000245)		Epithelial(62;0.0444)|Lung(74;0.111)|all cancers(62;0.128)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			AAGATGGGGGGCAGGATGGAG	0.448																																						ENST00000265113.4																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(23)|skin(1)	41						c.(37-39)gGc>gAc		solute carrier family 1 (glial high affinity glutamate transporter), member 3	L-Glutamic Acid(DB00142)						107	108	108					5																	36608563		2203	4300	6503	SO:0001583	missense	6507				D-aspartate import|L-glutamate import|neurotransmitter uptake	integral to membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity	g.chr5:36608563G>A		CCDS3919.1, CCDS54844.1	5p13	2013-05-22			ENSG00000079215	ENSG00000079215		"Solute carriers"	10941	protein-coding gene	gene with protein product	"glutamate transporter variant EAAT1ex9skip"	600111				7521911, 7698014	Standard	NM_004172		Approved	EAAT1, GLAST, EA6	uc003jkj.4	P43003	OTTHUMG00000090793	ENST00000265113.4:c.38G>A	5.37:g.36608563G>A	ENSP00000265113:p.Gly13Asp					SLC1A3_ENST00000381918.3_Missense_Mutation_p.G13D|SLC1A3_ENST00000506725.1_3'UTR	p.G13D	NM_004172.4	NP_004163.3	P43003	EAA1_HUMAN	Epithelial(62;0.0444)|Lung(74;0.111)|all cancers(62;0.128)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		2	514	+	all_lung(31;0.000245)		13					B2R5T3|Q4JCQ8	Missense_Mutation	SNP	ENST00000265113.4	37	c.38G>A	CCDS3919.1	.	.	.	.	.	.	.	.	.	.	G	16.63	3.175565	0.57692	.	.	ENSG00000079215	ENST00000265113;ENST00000513903;ENST00000427100;ENST00000416645;ENST00000505202;ENST00000513646;ENST00000381918	T;T;T;T;T	0.55413	0.53;1.98;1.98;1.98;0.52	5.69	5.69	0.88448	.	0.310182	0.32175	N	0.006475	T	0.32585	0.0834	N	0.08118	0	0.38218	D	0.940674	B;B	0.20887	0.049;0.04	B;B	0.24155	0.016;0.051	T	0.25606	-1.0127	10	0.44086	T	0.13	-10.8731	10.2676	0.43464	0.1463:0.0:0.8537:0.0	.	13;13	Q4JCQ8;P43003	.;EAA1_HUMAN	D	13	ENSP00000265113:G13D;ENSP00000427203:G13D;ENSP00000424986:G13D;ENSP00000420992:G13D;ENSP00000371343:G13D	ENSP00000265113:G13D	G	+	2	0	SLC1A3	36644320	1.000000	0.71417	0.999000	0.59377	0.990000	0.78478	4.129000	0.57957	2.685000	0.91497	0.655000	0.94253	GGC		0.448	SLC1A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207579.2	NM_004172		4	104	0	0	0	1	0	4	104					A	36608563	G	A	36608563	3	1	435	1	0	0	0	0	1	0	0	0	14433	1203	42	3	40	3	SLC1A3	5	36608563	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	568901	36608563	144306697	2624	23549											
NIPBL	25836	broad.mit.edu	37	chr5	36976503	36976503	+	Splice_Site	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcaaaagaagttcaagataaAggtaaaataatctcattatt	20	12	5	4	0	3	2	3	0	1	2	4	2	3	2	0	1	0	2	0	1	10	6			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:36976503A>C	ENST00000282516.8	+	9	1993	c.1494A>C	c.(1492-1494)aaA>aaC	p.K498N	NIPBL_ENST00000448238.2_Splice_Site_p.K498N|NIPBL_ENST00000504430.1_3'UTR	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	498					brain development (GO:0007420)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to X-ray (GO:0071481)|cognition (GO:0050890)|developmental growth (GO:0048589)|ear morphogenesis (GO:0042471)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic forelimb morphogenesis (GO:0035115)|embryonic viscerocranium morphogenesis (GO:0048703)|external genitalia morphogenesis (GO:0035261)|eye morphogenesis (GO:0048592)|face morphogenesis (GO:0060325)|fat cell differentiation (GO:0045444)|forelimb morphogenesis (GO:0035136)|gall bladder development (GO:0061010)|heart morphogenesis (GO:0003007)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|metanephros development (GO:0001656)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid cohesion (GO:0007064)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract morphogenesis (GO:0003151)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of ossification (GO:0045778)|regulation of developmental growth (GO:0048638)|regulation of embryonic development (GO:0045995)|regulation of hair cycle (GO:0042634)|sensory perception of sound (GO:0007605)|stem cell maintenance (GO:0019827)|uterus morphogenesis (GO:0061038)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMC loading complex (GO:0032116)	chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|histone deacetylase binding (GO:0042826)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			TTCAAGATAAAGGTAAAATAA	0.318																																						ENST00000282516.8																			0				autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128						c.e9+1		Nipped-B homolog (Drosophila)							40	42	42					5																	36976503		2198	4297	6495	SO:0001630	splice_region_variant	25836				brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding	g.chr5:36976503A>C	AB019494	CCDS3920.1, CCDS47198.1	5p13.2	2009-08-28			ENSG00000164190	ENSG00000164190			28862	protein-coding gene	gene with protein product	"sister chromatid cohesion 2 homolog (yeast)"	608667				15146186, 15146185	Standard	NM_133433		Approved	IDN3, DKFZp434L1319, FLJ11203, FLJ12597, FLJ13354, FLJ13648, Scc2	uc003jkl.4	Q6KC79	OTTHUMG00000090795	ENST00000282516.8:c.1495+1A>C	5.37:g.36976503A>C						NIPBL_ENST00000448238.2_Splice_Site_p.K498_splice|NIPBL_ENST00000504430.1_3'UTR	p.K498_splice	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)		9	1993	+	all_lung(31;0.000447)|Hepatocellular(1;0.108)		498					Q6KCD6|Q6N080|Q6ZT92|Q7Z2E6|Q8N4M5|Q9Y6Y3|Q9Y6Y4	Splice_Site	SNP	ENST00000282516.8	37	c.1495_splice	CCDS3920.1	.	.	.	.	.	.	.	.	.	.	A	21.3	4.130458	0.77549	.	.	ENSG00000164190	ENST00000282516;ENST00000448238	D;D	0.97575	-4.41;-4.44	5.84	4.65	0.58169	.	0.000000	0.85682	D	0.000000	D	0.96824	0.8963	L	0.32530	0.975	0.50632	D	0.999883	D;D	0.76494	0.998;0.999	D;D	0.80764	0.987;0.994	D	0.96092	0.9062	10	0.45353	T	0.12	.	12.1656	0.54127	0.9323:0.0:0.0677:0.0	.	498;498	Q6KC79;Q6KC79-2	NIPBL_HUMAN;.	N	498	ENSP00000282516:K498N;ENSP00000406266:K498N	ENSP00000282516:K498N	K	+	3	2	NIPBL	37012260	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.123000	0.77176	0.995000	0.38917	0.377000	0.23210	AAA		0.318	NIPBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207582.1	NM_015384	Missense_Mutation	15	16	0	0	0	1	0	15	16					C	36976503	A	C	36976503	5	2	435	1	0	0	0	0	0	0	1	0	10428	86	3	5	1524	5	NIPBL	5	36976503	Splice_Site	SNP	A	TCGA-XK-AAIW-01A-11D-A41K-08	367940	36976503	143938757	2625	23550											
NIPBL	25836	broad.mit.edu	37	chr5	37059130	37059130	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gattcagattcagattcagaAgacgatataaattcagtgat	16	12	8	5	1	4	5	4	1	0	4	4	7	4	5	0	0	0	0	0	0	4	6			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:37059130A>T	ENST00000282516.8	+	44	8047	c.7548A>T	c.(7546-7548)gaA>gaT	p.E2516D	NIPBL_ENST00000448238.2_Missense_Mutation_p.E2516D	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	2516					brain development (GO:0007420)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to X-ray (GO:0071481)|cognition (GO:0050890)|developmental growth (GO:0048589)|ear morphogenesis (GO:0042471)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic forelimb morphogenesis (GO:0035115)|embryonic viscerocranium morphogenesis (GO:0048703)|external genitalia morphogenesis (GO:0035261)|eye morphogenesis (GO:0048592)|face morphogenesis (GO:0060325)|fat cell differentiation (GO:0045444)|forelimb morphogenesis (GO:0035136)|gall bladder development (GO:0061010)|heart morphogenesis (GO:0003007)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|metanephros development (GO:0001656)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid cohesion (GO:0007064)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract morphogenesis (GO:0003151)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of ossification (GO:0045778)|regulation of developmental growth (GO:0048638)|regulation of embryonic development (GO:0045995)|regulation of hair cycle (GO:0042634)|sensory perception of sound (GO:0007605)|stem cell maintenance (GO:0019827)|uterus morphogenesis (GO:0061038)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMC loading complex (GO:0032116)	chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|histone deacetylase binding (GO:0042826)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			cagattcagaAGACGATATAA	0.383																																						ENST00000282516.8																			0				autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128						c.(7546-7548)gaA>gaT		Nipped-B homolog (Drosophila)							119	122	121					5																	37059130		2203	4300	6503	SO:0001583	missense	25836				brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding	g.chr5:37059130A>T	AB019494	CCDS3920.1, CCDS47198.1	5p13.2	2009-08-28			ENSG00000164190	ENSG00000164190			28862	protein-coding gene	gene with protein product	"sister chromatid cohesion 2 homolog (yeast)"	608667				15146186, 15146185	Standard	NM_133433		Approved	IDN3, DKFZp434L1319, FLJ11203, FLJ12597, FLJ13354, FLJ13648, Scc2	uc003jkl.4	Q6KC79	OTTHUMG00000090795	ENST00000282516.8:c.7548A>T	5.37:g.37059130A>T	ENSP00000282516:p.Glu2516Asp					NIPBL_ENST00000448238.2_Missense_Mutation_p.E2516D	p.E2516D	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)		44	8047	+	all_lung(31;0.000447)|Hepatocellular(1;0.108)		2516					Q6KCD6|Q6N080|Q6ZT92|Q7Z2E6|Q8N4M5|Q9Y6Y3|Q9Y6Y4	Missense_Mutation	SNP	ENST00000282516.8	37	c.7548A>T	CCDS3920.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	11.70|11.70	1.715680|1.715680	0.30413|0.30413	.|.	.|.	ENSG00000164190|ENSG00000164190	ENST00000282516;ENST00000448238;ENST00000513819|ENST00000507919	D;D;T|.	0.93712|.	-3.27;-3.27;-1.36|.	5.85|5.85	5.85|5.85	0.93711|0.93711	.|.	0.110101|.	0.64402|.	D|.	0.000011|.	T|T	0.32971|0.32971	0.0847|0.0847	N|N	0.04203|0.04203	-0.255|-0.255	0.38418|0.38418	D|D	0.946104|0.946104	B;B;B|.	0.16603|.	0.001;0.01;0.018|.	B;B;B|.	0.15484|.	0.001;0.003;0.013|.	T|T	0.37888|0.37888	-0.9686|-0.9686	10|5	0.19590|.	T|.	0.45|.	-18.1267|-18.1267	11.2904|11.2904	0.49247|0.49247	0.9295:0.0:0.0705:0.0|0.9295:0.0:0.0705:0.0	.|.	2516;2516;2516|.	Q6IEH8;Q6KC79;Q6KC79-2|.	.;NIPBL_HUMAN;.|.	D|M	2516;2516;42|22	ENSP00000282516:E2516D;ENSP00000406266:E2516D;ENSP00000421504:E42D|.	ENSP00000282516:E2516D|.	E|K	+|+	3|2	2|0	NIPBL|NIPBL	37094887|37094887	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.975000|0.975000	0.68041|0.68041	2.124000|2.124000	0.42006|0.42006	2.234000|2.234000	0.73211|0.73211	0.460000|0.460000	0.39030|0.39030	GAA|AAG		0.383	NIPBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207582.1	NM_015384		18	24	0	0	0	1	0	18	24					T	37059130	A	T	37059130	3	4	435	1	0	0	0	0	1	0	0	0	10428	69	3	5	7718	5	NIPBL	5	37059130	Missense_Mutation	SNP	A	TCGA-XK-AAIW-01A-11D-A41K-08	82627	37059130	143856130	2626	23551											
C5orf42	65250	broad.mit.edu	37	chr5	37167160	37167160	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagccttgcctttttttactGtcctttccttgtcttacttc	4	21	4	12	0	1	0	0	0	1	0	4	0	3	0	4	0	4	0	4	0	3	9			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:37167160G>A	ENST00000508244.1	-	34	7482	c.7389C>T	c.(7387-7389)gaC>gaT	p.D2463D	C5orf42_ENST00000425232.2_Silent_p.D2463D|C5orf42_ENST00000274258.7_Silent_p.D1343D			Q9H799	CE042_HUMAN	chromosome 5 open reading frame 42	2463						integral component of membrane (GO:0016021)				breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	79	all_lung(31;0.000616)		COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)			TTTTTTTACTGTCCTTTCCTT	0.318																																						ENST00000274258.7																			0				breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	79						c.(4027-4029)gaC>gaT		chromosome 5 open reading frame 42							177	166	170					5																	37167160		2203	4300	6503	SO:0001819	synonymous_variant	65250							g.chr5:37167160G>A		CCDS34146.1, CCDS34146.2	5p13.2	2014-01-28			ENSG00000197603	ENSG00000197603			25801	protein-coding gene	gene with protein product		614571				22264561	Standard	NM_023073		Approved	FLJ13231, JBTS17	uc011cpa.1	Q9H799	OTTHUMG00000160492	ENST00000508244.1:c.7389C>T	5.37:g.37167160G>A						C5orf42_ENST00000508244.1_Silent_p.D2463D|C5orf42_ENST00000425232.2_Silent_p.D2463D	p.D1343D			E9PH94	E9PH94_HUMAN	COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)		35	7616	-	all_lung(31;0.000616)		2463					A8MUB7|B7ZLV7|Q4G174|Q6DK46|Q8N8L4|Q9H5T1|Q9H8T9	Silent	SNP	ENST00000508244.1	37	c.4029C>T	CCDS34146.2																																																																																				0.318	C5orf42-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360806.1	NM_023073		11	36	0	0	0	1	0	11	36					A	37167160	G	A	37167160	2	1	435	1	0	0	0	0	0	0	0	1	2301	1368	48	3		3	C5orf42	5	37167160	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	108030	37167160	143748100	2627	23552											
C5orf42	65250	broad.mit.edu	37	chr5	37170174	37170174	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagtactattttgaccagatGggatagttccttcatggcag	10	13	10	8	0	1	2	1	1	0	1	2	3	2	3	2	2	1	3	2	2	3	7			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:37170174G>A	ENST00000508244.1	-	32	6524	c.6431C>T	c.(6430-6432)cCa>cTa	p.P2144L	C5orf42_ENST00000425232.2_Missense_Mutation_p.P2144L|C5orf42_ENST00000274258.7_Missense_Mutation_p.P1024L			Q9H799	CE042_HUMAN	chromosome 5 open reading frame 42	2144						integral component of membrane (GO:0016021)				breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	79	all_lung(31;0.000616)		COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)			TTGACCAGATGGGATAGTTCC	0.443																																						ENST00000274258.7																			0				breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	79						c.(3070-3072)cCa>cTa		chromosome 5 open reading frame 42							196	193	194					5																	37170174		2203	4300	6503	SO:0001583	missense	65250							g.chr5:37170174G>A		CCDS34146.1, CCDS34146.2	5p13.2	2014-01-28			ENSG00000197603	ENSG00000197603			25801	protein-coding gene	gene with protein product		614571				22264561	Standard	NM_023073		Approved	FLJ13231, JBTS17	uc011cpa.1	Q9H799	OTTHUMG00000160492	ENST00000508244.1:c.6431C>T	5.37:g.37170174G>A	ENSP00000421690:p.Pro2144Leu					C5orf42_ENST00000508244.1_Missense_Mutation_p.P2144L|C5orf42_ENST00000425232.2_Missense_Mutation_p.P2144L	p.P1024L			E9PH94	E9PH94_HUMAN	COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)		33	6658	-	all_lung(31;0.000616)		2144					A8MUB7|B7ZLV7|Q4G174|Q6DK46|Q8N8L4|Q9H5T1|Q9H8T9	Missense_Mutation	SNP	ENST00000508244.1	37	c.3071C>T	CCDS34146.2	.	.	.	.	.	.	.	.	.	.	G	12.37	1.917792	0.33815	.	.	ENSG00000197603	ENST00000508244;ENST00000425232;ENST00000274258;ENST00000514429;ENST00000388739	T;T;T;T	0.20881	2.04;2.04;2.04;2.04	5.68	-1.57	0.08506	.	0.813875	0.10688	N	0.645537	T	0.06280	0.0162	N	0.03608	-0.345	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.34700	-0.9818	10	0.22109	T	0.4	.	0.38	0.00393	0.2753:0.1431:0.223:0.3587	.	2144;1024	E9PH94;Q9H799	.;CE042_HUMAN	L	2144;2144;1024;1192;1024	ENSP00000421690:P2144L;ENSP00000389014:P2144L;ENSP00000274258:P1024L;ENSP00000424223:P1192L	ENSP00000274258:P1024L	P	-	2	0	C5orf42	37205931	0.000000	0.05858	0.000000	0.03702	0.045000	0.14185	-0.686000	0.05161	-0.494000	0.06669	-0.397000	0.06425	CCA		0.443	C5orf42-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360806.1	NM_023073		72	93	0	0	0	1	0	72	93					A	37170174	G	A	37170174	3	1	435	1	0	0	0	0	1	0	0	0	2301	1348	47	3	3242	3	C5orf42	5	37170174	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	3014	37170174	143745086	2628	23553											
C5orf42	65250	broad.mit.edu	37	chr5	37176039	37176039	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttctgaactcgtatctacttGcattgattgaggagtggtat	9	16	10	6	1	2	3	0	3	2	0	3	4	2	4	0	2	3	3	0	2	4	7			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:37176039G>A	ENST00000508244.1	-	30	6043	c.5950C>T	c.(5950-5952)Caa>Taa	p.Q1984*	C5orf42_ENST00000425232.2_Nonsense_Mutation_p.Q1984*|C5orf42_ENST00000274258.7_Nonsense_Mutation_p.Q864*			Q9H799	CE042_HUMAN	chromosome 5 open reading frame 42	1984						integral component of membrane (GO:0016021)				breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	79	all_lung(31;0.000616)		COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)			GTATCTACTTGCATTGATTGA	0.338																																						ENST00000274258.7																			0				breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	79						c.(2590-2592)Caa>Taa		chromosome 5 open reading frame 42							199	212	208					5																	37176039		2203	4300	6503	SO:0001587	stop_gained	65250							g.chr5:37176039G>A		CCDS34146.1, CCDS34146.2	5p13.2	2014-01-28			ENSG00000197603	ENSG00000197603			25801	protein-coding gene	gene with protein product		614571				22264561	Standard	NM_023073		Approved	FLJ13231, JBTS17	uc011cpa.1	Q9H799	OTTHUMG00000160492	ENST00000508244.1:c.5950C>T	5.37:g.37176039G>A	ENSP00000421690:p.Gln1984*					C5orf42_ENST00000508244.1_Nonsense_Mutation_p.Q1984*|C5orf42_ENST00000425232.2_Nonsense_Mutation_p.Q1984*	p.Q864*			E9PH94	E9PH94_HUMAN	COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)		31	6177	-	all_lung(31;0.000616)		1984					A8MUB7|B7ZLV7|Q4G174|Q6DK46|Q8N8L4|Q9H5T1|Q9H8T9	Nonsense_Mutation	SNP	ENST00000508244.1	37	c.2590C>T	CCDS34146.2	.	.	.	.	.	.	.	.	.	.	G	58	30.683744	0.99977	.	.	ENSG00000197603	ENST00000508244;ENST00000425232;ENST00000274258;ENST00000514429;ENST00000388739	.	.	.	5.77	1.84	0.25277	.	0.733408	0.12118	N	0.497927	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	4.3404	0.11106	0.5796:0.0:0.0873:0.3331	.	.	.	.	X	1984;1984;864;1032;864	.	ENSP00000274258:Q864X	Q	-	1	0	C5orf42	37211796	0.595000	0.26857	0.434000	0.26772	0.010000	0.07245	1.151000	0.31651	0.429000	0.26202	-0.302000	0.09304	CAA		0.338	C5orf42-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360806.1	NM_023073		33	72	0	0	0	1	0	33	72					A	37176039	G	A	37176039	4	1	435	1	0	0	0	0	0	1	0	0	2301	1328	46	3	3731	3	C5orf42	5	37176039	Nonsense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	5865	37176039	143739221	2629	23554											
C5orf42	65250	broad.mit.edu	37	chr5	37183047	37183047	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttatcatccattccagcaGtcttcctatactgccaaaag	11	12	4	14	0	2	0	1	0	1	0	5	0	5	0	5	0	3	1	5	0	5	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:37183047G>A	ENST00000508244.1	-	25	5329	c.5236C>T	c.(5236-5238)Ctg>Ttg	p.L1746L	C5orf42_ENST00000425232.2_Silent_p.L1746L|C5orf42_ENST00000274258.7_Silent_p.L627L			Q9H799	CE042_HUMAN	chromosome 5 open reading frame 42	1746						integral component of membrane (GO:0016021)				breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	79	all_lung(31;0.000616)		COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)			CATTCCAGCAGTCTTCCTATA	0.378																																						ENST00000274258.7																			0				breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	79						c.(1879-1881)Ctg>Ttg		chromosome 5 open reading frame 42							110	105	107					5																	37183047		2203	4300	6503	SO:0001819	synonymous_variant	65250							g.chr5:37183047G>A		CCDS34146.1, CCDS34146.2	5p13.2	2014-01-28			ENSG00000197603	ENSG00000197603			25801	protein-coding gene	gene with protein product		614571				22264561	Standard	NM_023073		Approved	FLJ13231, JBTS17	uc011cpa.1	Q9H799	OTTHUMG00000160492	ENST00000508244.1:c.5236C>T	5.37:g.37183047G>A						C5orf42_ENST00000508244.1_Silent_p.L1746L|C5orf42_ENST00000425232.2_Silent_p.L1746L	p.L627L			E9PH94	E9PH94_HUMAN	COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)		26	5466	-	all_lung(31;0.000616)		1746					A8MUB7|B7ZLV7|Q4G174|Q6DK46|Q8N8L4|Q9H5T1|Q9H8T9	Silent	SNP	ENST00000508244.1	37	c.1879C>T	CCDS34146.2																																																																																				0.378	C5orf42-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360806.1	NM_023073		14	61	0	0	0	1	0	14	61					A	37183047	G	A	37183047	2	1	435	1	0	0	0	0	0	0	0	1	2301	1020	36	3		3	C5orf42	5	37183047	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	7008	37183047	143732213	2630	23555											
C5orf42	65250	broad.mit.edu	37	chr5	37185146	37185146	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cctcactttctggatagaatGcatgacaacagacatcattt	13	12	6	10	0	3	3	2	1	1	2	3	4	3	4	1	1	2	1	1	1	3	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:37185146G>A	ENST00000508244.1	-	24	4318	c.4225C>T	c.(4225-4227)Cat>Tat	p.H1409Y	C5orf42_ENST00000425232.2_Missense_Mutation_p.H1409Y|C5orf42_ENST00000274258.7_Missense_Mutation_p.H290Y			Q9H799	CE042_HUMAN	chromosome 5 open reading frame 42	1409						integral component of membrane (GO:0016021)				breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	79	all_lung(31;0.000616)		COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)			TGGATAGAATGCATGACAACA	0.368																																						ENST00000274258.7																			0				breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	79						c.(868-870)Cat>Tat		chromosome 5 open reading frame 42							78	76	76					5																	37185146		2203	4300	6503	SO:0001583	missense	65250							g.chr5:37185146G>A		CCDS34146.1, CCDS34146.2	5p13.2	2014-01-28			ENSG00000197603	ENSG00000197603			25801	protein-coding gene	gene with protein product		614571				22264561	Standard	NM_023073		Approved	FLJ13231, JBTS17	uc011cpa.1	Q9H799	OTTHUMG00000160492	ENST00000508244.1:c.4225C>T	5.37:g.37185146G>A	ENSP00000421690:p.His1409Tyr					C5orf42_ENST00000508244.1_Missense_Mutation_p.H1409Y|C5orf42_ENST00000425232.2_Missense_Mutation_p.H1409Y	p.H290Y			E9PH94	E9PH94_HUMAN	COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)		25	4455	-	all_lung(31;0.000616)		1409					A8MUB7|B7ZLV7|Q4G174|Q6DK46|Q8N8L4|Q9H5T1|Q9H8T9	Missense_Mutation	SNP	ENST00000508244.1	37	c.868C>T	CCDS34146.2	.	.	.	.	.	.	.	.	.	.	G	25.2	4.611581	0.87258	.	.	ENSG00000197603	ENST00000508244;ENST00000425232;ENST00000274258;ENST00000514429;ENST00000388739	T;T;T;T	0.67171	-0.25;-0.25;-0.25;-0.25	5.98	5.11	0.69529	.	0.292675	0.25458	N	0.030538	T	0.69033	0.3066	N	0.19112	0.55	0.29374	N	0.86382	D;D	0.71674	0.993;0.998	P;P	0.60541	0.835;0.876	T	0.70197	-0.4938	10	0.72032	D	0.01	.	16.8198	0.85743	0.0:0.0:0.8706:0.1294	.	1409;290	E9PH94;Q9H799	.;CE042_HUMAN	Y	1409;1409;290;457;290	ENSP00000421690:H1409Y;ENSP00000389014:H1409Y;ENSP00000274258:H290Y;ENSP00000424223:H457Y	ENSP00000274258:H290Y	H	-	1	0	C5orf42	37220903	1.000000	0.71417	0.976000	0.42696	0.977000	0.68977	3.931000	0.56529	1.519000	0.48950	0.591000	0.81541	CAT		0.368	C5orf42-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360806.1	NM_023073		23	35	0	0	0	1	0	23	35					A	37185146	G	A	37185146	3	1	435	1	0	0	0	0	1	0	0	0	2301	1319	46	3	5480	3	C5orf42	5	37185146	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	2099	37185146	143730114	2631	23556											
WDR70	55100	broad.mit.edu	37	chr5	37701190	37701190	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	attaaaattatgggacatccGacaatttaataaaccacttt	17	13	4	7	1	0	0	0	0	0	0	1	2	1	1	2	1	1	0	2	1	7	6			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:37701190G>A	ENST00000265107.4	+	12	1379	c.1223G>A	c.(1222-1224)cGa>cAa	p.R408Q	RNU6-484P_ENST00000384016.1_RNA|WDR70_ENST00000510699.1_3'UTR	NM_018034.2	NP_060504.1	Q9NW82	WDR70_HUMAN	WD repeat domain 70	408							enzyme binding (GO:0019899)			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	all_lung(31;0.000285)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TGGGACATCCGACAATTTAAT	0.368																																						ENST00000265107.4																			0				central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						c.(1222-1224)cGa>cAa		WD repeat domain 70							95	97	96					5																	37701190		2203	4300	6503	SO:0001583	missense	55100							g.chr5:37701190G>A	BC009648	CCDS34147.1	5p13.2	2013-01-09			ENSG00000082068	ENSG00000082068		"WD repeat domain containing"	25495	protein-coding gene	gene with protein product						12477932	Standard	NM_018034		Approved	FLJ10233	uc003jkv.3	Q9NW82	OTTHUMG00000162263	ENST00000265107.4:c.1223G>A	5.37:g.37701190G>A	ENSP00000265107:p.Arg408Gln					WDR70_ENST00000510699.1_3'UTR	p.R408Q	NM_018034.2	NP_060504.1	Q9NW82	WDR70_HUMAN	COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		12	1379	+	all_lung(31;0.000285)		408					Q9H053	Missense_Mutation	SNP	ENST00000265107.4	37	c.1223G>A	CCDS34147.1	.	.	.	.	.	.	.	.	.	.	G	34	5.396827	0.96009	.	.	ENSG00000082068	ENST00000265107	T	0.01474	4.85	5.37	5.37	0.77165	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.64402	D	0.000003	T	0.13543	0.0328	M	0.88842	2.985	0.80722	D	1	D	0.89917	1.0	D	0.69654	0.965	T	0.00697	-1.1605	10	0.51188	T	0.08	-5.4569	18.7097	0.91652	0.0:0.0:1.0:0.0	.	408	Q9NW82	WDR70_HUMAN	Q	408	ENSP00000265107:R408Q	ENSP00000265107:R408Q	R	+	2	0	WDR70	37736947	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	8.436000	0.90300	2.514000	0.84764	0.650000	0.86243	CGA		0.368	WDR70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368294.1	NM_018034		36	53	0	0	0	1	0	36	53					A	37701190	G	A	37701190	3	1	435	1	0	0	0	0	1	0	0	0	17318	1058	37	2	1269	2	WDR70	5	37701190	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	516044	37701190	143214070	2632	23557											
GDNF	2668	broad.mit.edu	37	chr5	37815942	37815942	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tacgttgtctcagctgcatcGcaagagccgctgcagtacct	8	10	10	13	3	1	1	1	0	1	1	3	1	1	1	2	0	6	7	2	0	3	3	rs368244196		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:37815942G>A	ENST00000326524.2	-	3	646	c.447C>T	c.(445-447)tgC>tgT	p.C149C	GDNF_ENST00000515058.1_Silent_p.C123C|GDNF_ENST00000381826.4_Silent_p.C140C|GDNF_ENST00000344622.4_Silent_p.C123C|GDNF_ENST00000427982.1_Silent_p.C166C	NM_000514.3	NP_000505.1	P39905	GDNF_HUMAN	glial cell derived neurotrophic factor	149					adult locomotory behavior (GO:0008344)|axon guidance (GO:0007411)|branching involved in ureteric bud morphogenesis (GO:0001658)|enteric nervous system development (GO:0048484)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|metanephros development (GO:0001656)|mRNA stabilization (GO:0048255)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of neuron apoptotic process (GO:0043524)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|neuron projection development (GO:0031175)|organ induction (GO:0001759)|peristalsis (GO:0030432)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of dopamine secretion (GO:0033603)|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0072108)|positive regulation of monooxygenase activity (GO:0032770)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of ureteric bud formation (GO:0072107)|postganglionic parasympathetic nervous system development (GO:0021784)|postsynaptic membrane organization (GO:0001941)|regulation of dopamine uptake involved in synaptic transmission (GO:0051584)|regulation of morphogenesis of a branching structure (GO:0060688)|signal transduction (GO:0007165)|sympathetic nervous system development (GO:0048485)|ureteric bud formation (GO:0060676)	extracellular region (GO:0005576)	protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.C149C(1)		NS(1)|endometrium(1)|large_intestine(2)|liver(1)|lung(8)|skin(2)	15	all_lung(31;0.00118)					CAGCTGCATCGCAAGAGCCGC	0.453													G|||	1	0.000199681	0	0	5008	,	,		17174	0.001		0	False		,,,				2504	0					ENST00000326524.2																			1	Substitution - coding silent(1)	p.C149C(1)	large_intestine(1)	NS(1)|endometrium(1)|large_intestine(2)|liver(1)|lung(8)|skin(2)	15						c.(445-447)tgC>tgT		glial cell derived neurotrophic factor		G	,,,	1,4405	2.1+/-5.4	0,1,2202	117	116	116		447,498,420,369	-4.9	0.6	5		116	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	GDNF	NM_000514.3,NM_001190468.1,NM_001190469.1,NM_199231.2	,,,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,,,	149/212,166/229,140/203,123/186	37815942	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	2668				adult locomotory behavior|anti-apoptosis|axon guidance|branching involved in ureteric bud morphogenesis|enteric nervous system development|mRNA stabilization|negative regulation of neuron apoptosis|neural crest cell migration|peristalsis|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of dopamine secretion|positive regulation of monooxygenase activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of ureteric bud formation|postganglionic parasympathetic nervous system development|regulation of dopamine uptake|signal transduction|sympathetic nervous system development	extracellular region	growth factor activity|protein homodimerization activity	g.chr5:37815942G>A		CCDS3922.1, CCDS3923.1, CCDS54845.1, CCDS54846.1, CCDS75237.1	5p13.1-p12	2014-01-30			ENSG00000168621	ENSG00000168621		"Endogenous ligands"	4232	protein-coding gene	gene with protein product	"astrocyte-derived trophic factor", "glial cell line derived neurotrophic factor", "glial derived neurotrophic factor"	600837				8493557	Standard	NM_199231		Approved	ATF1, ATF2, HFB1-GDNF	uc011cpg.2	P39905	OTTHUMG00000090809	ENST00000326524.2:c.447C>T	5.37:g.37815942G>A						GDNF_ENST00000381826.4_Silent_p.C140C|GDNF_ENST00000427982.1_Silent_p.C166C|GDNF_ENST00000515058.1_Silent_p.C123C|GDNF_ENST00000344622.4_Silent_p.C123C	p.C149C	NM_000514.3	NP_000505.1	P39905	GDNF_HUMAN			3	646	-	all_lung(31;0.00118)		149					B7WPK7|O95448|O95449|O95986|Q6FH33|Q96L44|Q9UD32|Q9UD33|Q9UMV2|Q9UP67|Q9UP97	Silent	SNP	ENST00000326524.2	37	c.447C>T	CCDS3922.1																																																																																				0.453	GDNF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207606.1	NM_000514		38	53	0	0	0	1	0	38	53					A	37815942	G	A	37815942	2	1	435	1	0	0	0	0	0	0	0	1	6322	1079	38	1		1	GDNF	5	37815942	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	114752	37815942	143099318	2633	23558											
EGFLAM	133584	broad.mit.edu	37	chr5	38407051	38407051	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctacctcagcatctctccCtgtgaccacggtggctcccc	5	9	7	20	1	2	1	1	1	1	0	5	1	4	1	6	2	2	2	6	2	1	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:38407051C>A	ENST00000354891.3	+	8	1296	c.950C>A	c.(949-951)cCt>cAt	p.P317H	EGFLAM_ENST00000322350.5_Missense_Mutation_p.P317H|EGFLAM_ENST00000397202.2_Intron|EGFLAM_ENST00000336740.6_Missense_Mutation_p.P83H	NM_001205301.1	NP_001192230.1	Q63HQ2	EGFLA_HUMAN	EGF-like, fibronectin type III and laminin G domains	317					extracellular matrix organization (GO:0030198)|peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)|positive regulation of cell-substrate adhesion (GO:0010811)	basement membrane (GO:0005604)|cell junction (GO:0030054)|interstitial matrix (GO:0005614)|synapse (GO:0045202)	glycosaminoglycan binding (GO:0005539)			NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85	all_lung(31;0.000385)					GCATCTCTCCCTGTGACCACG	0.473																																					Colon(62;485 1295 3347 17454)	ENST00000322350.5																			0				NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85						c.(949-951)cCt>cAt		EGF-like, fibronectin type III and laminin G domains							151	144	146					5																	38407051		2203	4300	6503	SO:0001583	missense	133584					cell junction|proteinaceous extracellular matrix|synapse		g.chr5:38407051C>A	AK097549	CCDS3924.1, CCDS3925.1, CCDS47199.1, CCDS56363.1	5p13.2-p13.1	2014-04-03			ENSG00000164318	ENSG00000164318		"Fibronectin type III domain containing"	26810	protein-coding gene	gene with protein product	"pikachurin", "agrin-like"					18641643, 20078962, 22760553	Standard	NM_182801		Approved	FLJ39155, AGRINL, AGRNL, PIKA	uc003jlc.2	Q63HQ2	OTTHUMG00000131139	ENST00000354891.3:c.950C>A	5.37:g.38407051C>A	ENSP00000346964:p.Pro317His					EGFLAM_ENST00000397202.2_Intron|EGFLAM_ENST00000336740.6_Missense_Mutation_p.P83H|EGFLAM_ENST00000354891.3_Missense_Mutation_p.P317H	p.P317H	NM_152403.3	NP_689616.2	Q63HQ2	EGFLA_HUMAN			8	1296	+	all_lung(31;0.000385)		317					A8K6D7|Q5U643|Q6P3V1|Q8N124|Q8N197|Q8N7Y0|Q8N8N5|Q8NAL2	Missense_Mutation	SNP	ENST00000354891.3	37	c.950C>A	CCDS56363.1	.	.	.	.	.	.	.	.	.	.	C	12.90	2.076340	0.36662	.	.	ENSG00000164318	ENST00000354891;ENST00000322350;ENST00000336740;ENST00000339580	T;T;T	0.80123	0.78;0.62;-1.34	5.69	2.8	0.32819	.	0.775846	0.12541	N	0.459937	T	0.69351	0.3101	L	0.36672	1.1	0.20403	N	0.999902	B;B;B	0.17038	0.001;0.001;0.02	B;B;B	0.15870	0.001;0.001;0.014	T	0.54370	-0.8304	10	0.26408	T	0.33	-6.1432	7.8223	0.29294	0.122:0.6947:0.1177:0.0656	.	83;317;317	Q63HQ2-4;Q63HQ2;Q63HQ2-2	.;EGFLA_HUMAN;.	H	317;317;83;83	ENSP00000346964:P317H;ENSP00000313084:P317H;ENSP00000337607:P83H	ENSP00000313084:P317H	P	+	2	0	EGFLAM	38442808	0.007000	0.16637	0.343000	0.25615	0.131000	0.20780	2.277000	0.43417	0.685000	0.31468	0.655000	0.94253	CCT		0.473	EGFLAM-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000367323.1	NM_152403		23	50	1	0	1.10923e-09	1	1.18008e-09	23	50					A	38407051	C	A	38407051	3	1	435	1	0	0	0	0	1	0	0	0	4966	681	24	5	994	5	EGFLAM	5	38407051	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	591109	38407051	142508209	2634	23559											
EGFLAM	133584	broad.mit.edu	37	chr5	38407136	38407136	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgtcaaggctctttgacatGccttgtgatgaaactctctg	9	14	9	9	0	3	3	1	3	2	0	4	3	3	3	1	1	2	1	1	1	2	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:38407136G>A	ENST00000354891.3	+	8	1381	c.1035G>A	c.(1033-1035)atG>atA	p.M345I	EGFLAM_ENST00000322350.5_Missense_Mutation_p.M345I|EGFLAM_ENST00000397202.2_Intron|EGFLAM_ENST00000336740.6_Missense_Mutation_p.M111I	NM_001205301.1	NP_001192230.1	Q63HQ2	EGFLA_HUMAN	EGF-like, fibronectin type III and laminin G domains	345	EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00076}.				extracellular matrix organization (GO:0030198)|peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)|positive regulation of cell-substrate adhesion (GO:0010811)	basement membrane (GO:0005604)|cell junction (GO:0030054)|interstitial matrix (GO:0005614)|synapse (GO:0045202)	glycosaminoglycan binding (GO:0005539)			NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85	all_lung(31;0.000385)					TCTTTGACATGCCTTGTGATG	0.557																																					Colon(62;485 1295 3347 17454)	ENST00000322350.5																			0				NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85						c.(1033-1035)atG>atA		EGF-like, fibronectin type III and laminin G domains							129	121	124					5																	38407136		2203	4300	6503	SO:0001583	missense	133584					cell junction|proteinaceous extracellular matrix|synapse		g.chr5:38407136G>A	AK097549	CCDS3924.1, CCDS3925.1, CCDS47199.1, CCDS56363.1	5p13.2-p13.1	2014-04-03			ENSG00000164318	ENSG00000164318		"Fibronectin type III domain containing"	26810	protein-coding gene	gene with protein product	"pikachurin", "agrin-like"					18641643, 20078962, 22760553	Standard	NM_182801		Approved	FLJ39155, AGRINL, AGRNL, PIKA	uc003jlc.2	Q63HQ2	OTTHUMG00000131139	ENST00000354891.3:c.1035G>A	5.37:g.38407136G>A	ENSP00000346964:p.Met345Ile					EGFLAM_ENST00000397202.2_Intron|EGFLAM_ENST00000336740.6_Missense_Mutation_p.M111I|EGFLAM_ENST00000354891.3_Missense_Mutation_p.M345I	p.M345I	NM_152403.3	NP_689616.2	Q63HQ2	EGFLA_HUMAN			8	1381	+	all_lung(31;0.000385)		345			EGF-like 1.		A8K6D7|Q5U643|Q6P3V1|Q8N124|Q8N197|Q8N7Y0|Q8N8N5|Q8NAL2	Missense_Mutation	SNP	ENST00000354891.3	37	c.1035G>A	CCDS56363.1	.	.	.	.	.	.	.	.	.	.	G	10.68	1.417803	0.25552	.	.	ENSG00000164318	ENST00000354891;ENST00000322350;ENST00000336740;ENST00000339580	T;T;T	0.78595	0.91;0.74;-1.19	5.91	4.09	0.47781	Epidermal growth factor-like, type 3 (1);	0.503415	0.23710	N	0.045338	T	0.66509	0.2796	L	0.40543	1.245	0.80722	D	1	B;B;B	0.09022	0.001;0.001;0.002	B;B;B	0.08055	0.002;0.001;0.003	T	0.56956	-0.7893	10	0.21014	T	0.42	-16.2808	9.712	0.40251	0.066:0.0:0.6818:0.2522	.	111;345;345	Q63HQ2-4;Q63HQ2;Q63HQ2-2	.;EGFLA_HUMAN;.	I	345;345;111;111	ENSP00000346964:M345I;ENSP00000313084:M345I;ENSP00000337607:M111I	ENSP00000313084:M345I	M	+	3	0	EGFLAM	38442893	0.937000	0.31787	0.426000	0.26672	0.986000	0.74619	1.442000	0.35046	0.794000	0.33899	0.655000	0.94253	ATG		0.557	EGFLAM-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000367323.1	NM_152403		15	21	0	0	0	1	0	15	21					A	38407136	G	A	38407136	3	1	435	1	0	0	0	0	1	0	0	0	4966	1319	46	3	1079	3	EGFLAM	5	38407136	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	85	38407136	142508124	2635	23560											
LIFR	3977	broad.mit.edu	37	chr5	38523624	38523624	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgtcgttccactttaggtatAatgtagaggttgagaaatca	12	14	10	5	1	1	2	1	1	0	2	3	3	2	2	1	2	0	4	1	2	5	7			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:38523624A>G	ENST00000263409.4	-	5	620	c.458T>C	c.(457-459)tTa>tCa	p.L153S	LIFR_ENST00000453190.2_Missense_Mutation_p.L153S|LIFR_ENST00000503088.1_5'UTR	NM_002310.5	NP_002301.1	P42702	LIFR_HUMAN	leukemia inhibitory factor receptor alpha	153					cell surface receptor signaling pathway (GO:0007166)|ciliary neurotrophic factor-mediated signaling pathway (GO:0070120)|cytokine-mediated signaling pathway (GO:0019221)|leukemia inhibitory factor signaling pathway (GO:0048861)|oncostatin-M-mediated signaling pathway (GO:0038165)|positive regulation of cell proliferation (GO:0008284)|response to cytokine (GO:0034097)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	ciliary neurotrophic factor receptor binding (GO:0005127)|growth factor binding (GO:0019838)|leukemia inhibitory factor receptor activity (GO:0004923)			NS(2)|breast(4)|endometrium(6)|kidney(2)|large_intestine(30)|liver(2)|lung(21)|ovary(3)|skin(5)|stomach(1)|urinary_tract(2)	78	all_lung(31;0.00021)					CTTTAGGTATAATGTAGAGGT	0.358			T	PLAG1	salivary adenoma																																Melanoma(13;4 730 6426 9861 34751)	ENST00000263409.4				Dom	yes		5	5p13-p12	3977	T	leukemia inhibitory factor receptor			E	PLAG1		salivary adenoma		0				NS(2)|breast(4)|endometrium(6)|kidney(2)|large_intestine(30)|liver(2)|lung(21)|ovary(3)|skin(5)|stomach(1)|urinary_tract(2)	78						c.(457-459)tTa>tCa		leukemia inhibitory factor receptor alpha							80	86	84					5																	38523624		2203	4299	6502	SO:0001583	missense	3977				positive regulation of cell proliferation	extracellular region|integral to plasma membrane	ciliary neurotrophic factor receptor binding|growth factor binding|leukemia inhibitory factor receptor activity	g.chr5:38523624A>G	X61615	CCDS3927.1	5p13-p12	2013-02-11	2006-05-17		ENSG00000113594	ENSG00000113594		"CD molecules", "Fibronectin type III domain containing"	6597	protein-coding gene	gene with protein product		151443	"leukemia inhibitory factor receptor"			1915266	Standard	NM_001127671		Approved	CD118	uc003jli.2	P42702	OTTHUMG00000131138	ENST00000263409.4:c.458T>C	5.37:g.38523624A>G	ENSP00000263409:p.Leu153Ser					LIFR_ENST00000503088.1_5'UTR|LIFR_ENST00000453190.2_Missense_Mutation_p.L153S	p.L153S	NM_002310.5	NP_002301.1	P42702	LIFR_HUMAN			5	620	-	all_lung(31;0.00021)		153					Q6LCD9	Missense_Mutation	SNP	ENST00000263409.4	37	c.458T>C	CCDS3927.1	.	.	.	.	.	.	.	.	.	.	A	14.74	2.624800	0.46840	.	.	ENSG00000113594	ENST00000263409;ENST00000453190	T;T	0.61274	0.12;0.12	5.38	5.38	0.77491	Immunoglobulin-like fold (1);	0.713113	0.14086	N	0.342343	T	0.74891	0.3776	M	0.74881	2.28	0.09310	N	0.999997	D	0.89917	1.0	D	0.78314	0.991	T	0.66654	-0.5869	10	0.87932	D	0	-6.0018	11.7852	0.52039	1.0:0.0:0.0:0.0	.	153	P42702	LIFR_HUMAN	S	153	ENSP00000263409:L153S;ENSP00000398368:L153S	ENSP00000263409:L153S	L	-	2	0	LIFR	38559381	0.485000	0.25972	0.005000	0.12908	0.439000	0.31926	4.910000	0.63321	2.021000	0.59480	0.533000	0.62120	TTA		0.358	LIFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253823.1	NM_002310		30	46	0	0	0	1	0	30	46					G	38523624	A	G	38523624	3	3	435	1	0	0	0	0	1	0	0	0	8780	372	13	4	2899	4	LIFR	5	38523624	Missense_Mutation	SNP	A	TCGA-XK-AAIW-01A-11D-A41K-08	116488	38523624	142391636	2636	23561											
LIFR	3977	broad.mit.edu	37	chr5	38527391	38527391	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tctccaactgataacaagaaCgggacctgtaataagaaatt	17	9	7	8	1	1	3	0	1	1	2	2	4	1	4	2	1	3	1	2	1	7	4	rs61751711		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:38527391C>T	ENST00000263409.4	-	4	425	c.263G>A	c.(262-264)cGt>cAt	p.R88H	LIFR_ENST00000453190.2_Missense_Mutation_p.R88H|LIFR_ENST00000503088.1_5'UTR	NM_002310.5	NP_002301.1	P42702	LIFR_HUMAN	leukemia inhibitory factor receptor alpha	88	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell surface receptor signaling pathway (GO:0007166)|ciliary neurotrophic factor-mediated signaling pathway (GO:0070120)|cytokine-mediated signaling pathway (GO:0019221)|leukemia inhibitory factor signaling pathway (GO:0048861)|oncostatin-M-mediated signaling pathway (GO:0038165)|positive regulation of cell proliferation (GO:0008284)|response to cytokine (GO:0034097)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	ciliary neurotrophic factor receptor binding (GO:0005127)|growth factor binding (GO:0019838)|leukemia inhibitory factor receptor activity (GO:0004923)			NS(2)|breast(4)|endometrium(6)|kidney(2)|large_intestine(30)|liver(2)|lung(21)|ovary(3)|skin(5)|stomach(1)|urinary_tract(2)	78	all_lung(31;0.00021)					ATAACAAGAACGGGACCTGTA	0.254			T	PLAG1	salivary adenoma																																Melanoma(13;4 730 6426 9861 34751)	ENST00000263409.4				Dom	yes		5	5p13-p12	3977	T	leukemia inhibitory factor receptor			E	PLAG1		salivary adenoma		0				NS(2)|breast(4)|endometrium(6)|kidney(2)|large_intestine(30)|liver(2)|lung(21)|ovary(3)|skin(5)|stomach(1)|urinary_tract(2)	78						c.(262-264)cGt>cAt		leukemia inhibitory factor receptor alpha		C	HIS/ARG,HIS/ARG	3,4395	6.2+/-15.9	0,3,2196	47	48	48		263,263	0.1	0	5	dbSNP_129	48	7,8575	5.7+/-21.5	0,7,4284	yes	missense,missense	LIFR	NM_001127671.1,NM_002310.5	29,29	0,10,6480	TT,TC,CC		0.0816,0.0682,0.077	benign,benign	88/1098,88/1098	38527391	10,12970	2199	4291	6490	SO:0001583	missense	3977				positive regulation of cell proliferation	extracellular region|integral to plasma membrane	ciliary neurotrophic factor receptor binding|growth factor binding|leukemia inhibitory factor receptor activity	g.chr5:38527391C>T	X61615	CCDS3927.1	5p13-p12	2013-02-11	2006-05-17		ENSG00000113594	ENSG00000113594		"CD molecules", "Fibronectin type III domain containing"	6597	protein-coding gene	gene with protein product		151443	"leukemia inhibitory factor receptor"			1915266	Standard	NM_001127671		Approved	CD118	uc003jli.2	P42702	OTTHUMG00000131138	ENST00000263409.4:c.263G>A	5.37:g.38527391C>T	ENSP00000263409:p.Arg88His					LIFR_ENST00000503088.1_5'UTR|LIFR_ENST00000453190.2_Missense_Mutation_p.R88H	p.R88H	NM_002310.5	NP_002301.1	P42702	LIFR_HUMAN			4	425	-	all_lung(31;0.00021)		88			Fibronectin type-III 1.		Q6LCD9	Missense_Mutation	SNP	ENST00000263409.4	37	c.263G>A	CCDS3927.1	.	.	.	.	.	.	.	.	.	.	C	0.006	-2.037964	0.00402	6.82E-4	8.16E-4	ENSG00000113594	ENST00000263409;ENST00000453190;ENST00000506990	T;T;T	0.64085	-0.08;-0.08;-0.08	5.25	0.0924	0.14472	Fibronectin, type III (3);Immunoglobulin-like fold (1);	1.854190	0.02412	N	0.081760	T	0.32010	0.0815	N	0.02011	-0.69	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.42565	-0.9444	10	0.02654	T	1	-0.6903	7.871	0.29565	0.0:0.3451:0.0:0.6549	rs61751711	88	P42702	LIFR_HUMAN	H	88	ENSP00000263409:R88H;ENSP00000398368:R88H;ENSP00000426685:R88H	ENSP00000263409:R88H	R	-	2	0	LIFR	38563148	0.000000	0.05858	0.001000	0.08648	0.245000	0.25701	-1.668000	0.01959	-0.217000	0.10033	-0.294000	0.09567	CGT		0.254	LIFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253823.1	NM_002310		22	33	0	0	0	1	0	22	33					T	38527391	C	T	38527391	3	4	435	1	0	0	0	0	1	0	0	0	8780	536	19	1	3098	1	LIFR	5	38527391	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	3767	38527391	142387869	2637	23562											
OSMR	9180	broad.mit.edu	37	chr5	38933358	38933358	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagaaacaagtttgaattatGtgtcccagttggcttcaccc	11	12	9	9	0	1	2	1	1	0	1	2	3	2	2	2	1	1	3	2	1	4	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:38933358G>A	ENST00000274276.3	+	18	3154	c.2752G>A	c.(2752-2754)Gtg>Atg	p.V918M		NM_003999.2	NP_003990.1	Q99650	OSMR_HUMAN	oncostatin M receptor	918					cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|oncostatin-M-mediated signaling pathway (GO:0038165)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of cell proliferation (GO:0008284)|response to cytokine (GO:0034097)	oncostatin-M receptor complex (GO:0005900)	growth factor binding (GO:0019838)|oncostatin-M receptor activity (GO:0004924)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	46	all_lung(31;0.000365)					TTTGAATTATGTGTCCCAGTT	0.443																																						ENST00000274276.3																			0				NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	46						c.(2752-2754)Gtg>Atg		oncostatin M receptor							80	86	84					5																	38933358		2203	4300	6503	SO:0001583	missense	9180				cell proliferation|positive regulation of cell proliferation	oncostatin-M receptor complex	growth factor binding|oncostatin-M receptor activity	g.chr5:38933358G>A	U60805	CCDS3928.1, CCDS54847.1	5p13.2	2013-02-11			ENSG00000145623	ENSG00000145623		"Fibronectin type III domain containing"	8507	protein-coding gene	gene with protein product		601743				8999038	Standard	NM_001168355		Approved	OSMRB	uc003jln.2	Q99650	OTTHUMG00000090811	ENST00000274276.3:c.2752G>A	5.37:g.38933358G>A	ENSP00000274276:p.Val918Met						p.V918M	NM_003999.2	NP_003990.1	Q99650	OSMR_HUMAN			18	3154	+	all_lung(31;0.000365)		918					Q6P4E8|Q96QJ6	Missense_Mutation	SNP	ENST00000274276.3	37	c.2752G>A	CCDS3928.1	.	.	.	.	.	.	.	.	.	.	G	19.56	3.851105	0.71719	.	.	ENSG00000145623	ENST00000274276	T	0.51071	0.72	5.85	4.07	0.47477	.	2.680230	0.01216	N	0.007970	T	0.68137	0.2968	M	0.61703	1.905	0.32366	N	0.556521	D	0.89917	1.0	D	0.87578	0.998	T	0.45366	-0.9266	10	0.54805	T	0.06	.	8.1342	0.31046	0.1766:0.0:0.8234:0.0	.	918	Q99650	OSMR_HUMAN	M	918	ENSP00000274276:V918M	ENSP00000274276:V918M	V	+	1	0	OSMR	38969115	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	1.653000	0.37323	1.476000	0.48215	0.655000	0.94253	GTG		0.443	OSMR-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000207609.2	NM_003999		8	79	0	0	0	1	0	8	79					A	38933358	G	A	38933358	3	1	435	1	0	0	0	0	1	0	0	0	11292	1377	48	3	2856	3	OSMR	5	38933358	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	405967	38933358	141981902	2638	23563											
RICTOR	253260	broad.mit.edu	37	chr5	38952304	38952304	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gtcaggatactcactcgatgGcacagattcactttcactat	11	12	7	11	1	4	1	4	0	0	1	5	3	4	2	0	2	1	1	0	2	2	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:38952304G>A	ENST00000357387.3	-	30	3151	c.3121C>T	c.(3121-3123)Cca>Tca	p.P1041S	RICTOR_ENST00000296782.5_Missense_Mutation_p.P1041S|RICTOR_ENST00000503698.1_5'Flank	NM_152756.3	NP_689969.2			RPTOR independent companion of MTOR, complex 2											NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|prostate(3)|skin(5)	75	all_lung(31;0.000396)					TCACTCGATGGCACAGATTCA	0.333																																						ENST00000357387.3																			0				NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|prostate(3)|skin(5)	75						c.(3121-3123)Cca>Tca		RPTOR independent companion of MTOR, complex 2							95	90	92					5																	38952304		2203	4300	6503	SO:0001583	missense	253260				actin cytoskeleton reorganization|embryo development|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of TOR signaling cascade|regulation of protein kinase B signaling cascade|T cell costimulation	cytosol|TORC2 complex	protein binding	g.chr5:38952304G>A		CCDS34148.1, CCDS68861.1	5p13.1	2009-07-09			ENSG00000164327	ENSG00000164327			28611	protein-coding gene	gene with protein product	"rapamycin-insensitive companion of mTOR", "pianissimo"	609022				12477932	Standard	XM_005248278		Approved	MGC39830, AVO3, PIA, KIAA1999	uc003jlp.2	Q6R327	OTTHUMG00000162037	ENST00000357387.3:c.3121C>T	5.37:g.38952304G>A	ENSP00000349959:p.Pro1041Ser					RICTOR_ENST00000296782.5_Missense_Mutation_p.P1041S	p.P1041S	NM_152756.3	NP_689969.2	Q6R327	RICTR_HUMAN			30	3151	-	all_lung(31;0.000396)		1041			Ser-rich.			Missense_Mutation	SNP	ENST00000357387.3	37	c.3121C>T	CCDS34148.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.078321	0.76528	.	.	ENSG00000164327	ENST00000357387;ENST00000296782	T;T	0.50813	0.73;0.73	5.66	5.66	0.87406	.	0.046195	0.85682	D	0.000000	T	0.45776	0.1359	L	0.43152	1.355	0.54753	D	0.999985	B;B	0.25609	0.13;0.13	B;B	0.21917	0.037;0.037	T	0.40701	-0.9549	10	0.87932	D	0	-12.0021	19.757	0.96298	0.0:0.0:1.0:0.0	.	1041;1041	Q6R327;Q6R327-3	RICTR_HUMAN;.	S	1041	ENSP00000349959:P1041S;ENSP00000296782:P1041S	ENSP00000296782:P1041S	P	-	1	0	RICTOR	38988061	1.000000	0.71417	0.972000	0.41901	0.691000	0.40173	7.715000	0.84713	2.678000	0.91216	0.460000	0.39030	CCA		0.333	RICTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366985.1	NM_152756		4	42	0	0	0	1	0	4	42					A	38952304	G	A	38952304	3	1	435	1	0	0	0	0	1	0	0	0	13358	1203	42	3	2041	3	RICTOR	5	38952304	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	18946	38952304	141962956	2639	23564											
C9	735	broad.mit.edu	37	chr5	39341247	39341247	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aagtacaagtaaaatacacaCccatagcctgctgttcgtgc	14	9	7	11	1	0	0	0	0	0	0	1	0	0	0	2	0	5	4	2	0	7	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:39341247C>T	ENST00000263408.4	-	4	572		c.e4+1		C9_ENST00000509186.1_Splice_Site	NM_001737.3	NP_001728.1	P02748	CO9_HUMAN	complement component 9						complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|hemolysis by symbiont of host erythrocytes (GO:0019836)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane attack complex (GO:0005579)|plasma membrane (GO:0005886)				central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	32	all_lung(31;0.000197)	all_neural(839;7.57e-10)|Lung NSC(810;2.62e-08)|Ovarian(839;0.00384)|Breast(839;0.0184)|Myeloproliferative disorder(839;0.0511)	Epithelial(62;0.158)			AAAATACACACCCATAGCCTG	0.453																																						ENST00000263408.4																			0				central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	32						c.e4+1		complement component 9							91	93	92					5																	39341247		2203	4300	6503	SO:0001630	splice_region_variant	735				complement activation, alternative pathway|complement activation, classical pathway|cytolysis|hemolysis by symbiont of host erythrocytes	extracellular region|membrane attack complex		g.chr5:39341247C>T		CCDS3929.1	5p14-p12	2014-09-17			ENSG00000113600	ENSG00000113600		"Complement system"	1358	protein-coding gene	gene with protein product		120940					Standard	NM_001737		Approved		uc003jlv.4	P02748	OTTHUMG00000094767	ENST00000263408.4:c.476+1G>A	5.37:g.39341247C>T						C9_ENST00000509186.1_Splice_Site		NM_001737.3	NP_001728.1	P02748	CO9_HUMAN	Epithelial(62;0.158)		4	572	-	all_lung(31;0.000197)	all_neural(839;7.57e-10)|Lung NSC(810;2.62e-08)|Ovarian(839;0.00384)|Breast(839;0.0184)|Myeloproliferative disorder(839;0.0511)							Splice_Site	SNP	ENST00000263408.4	37		CCDS3929.1	.	.	.	.	.	.	.	.	.	.	C	17.72	3.458433	0.63401	.	.	ENSG00000113600	ENST00000263408	.	.	.	5.52	5.52	0.82312	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.2113	0.89871	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	C9	39377004	1.000000	0.71417	1.000000	0.80357	0.624000	0.37722	3.943000	0.56621	2.590000	0.87494	0.563000	0.77884	.		0.453	C9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211576.3		Intron	14	34	0	0	0	1	0	14	34					T	39341247	C	T	39341247	5	4	435	1	0	0	0	0	0	0	1	0	2443	521	18	3	1234	3	C9	5	39341247	Splice_Site	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	388943	39341247	141574013	2640	23565											
PTGER4	5734	broad.mit.edu	37	chr5	40681751	40681751	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catgcaccgccagttcatgcGccgcacctcgctgggcaccg	6	6	11	18	5	1	0	1	0	0	0	2	0	1	0	5	1	2	5	5	1	0	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:40681751G>A	ENST00000302472.3	+	2	1680	c.656G>A	c.(655-657)cGc>cAc	p.R219H	PTGER4_ENST00000514343.1_3'UTR	NM_000958.2	NP_000949.1	P35408	PE2R4_HUMAN	prostaglandin E receptor 4 (subtype EP4)	219					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|bone development (GO:0060348)|cellular response to mechanical stimulus (GO:0071260)|ERK1 and ERK2 cascade (GO:0070371)|immune response (GO:0006955)|JNK cascade (GO:0007254)|negative regulation of cytokine secretion (GO:0050710)|negative regulation of eosinophil extravasation (GO:2000420)|negative regulation of inflammatory response (GO:0050728)|negative regulation of integrin activation (GO:0033624)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of inflammatory response (GO:0050729)|regulation of ossification (GO:0030278)|regulation of stress fiber assembly (GO:0051492)|response to lipopolysaccharide (GO:0032496)|response to mechanical stimulus (GO:0009612)|T-helper cell differentiation (GO:0042093)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	prostaglandin E receptor activity (GO:0004957)			breast(1)|endometrium(3)|liver(1)|lung(13)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23					Dinoprostone(DB00917)|Misoprostol(DB00929)	CAGTTCATGCGCCGCACCTCG	0.711																																						ENST00000302472.3																			0				breast(1)|endometrium(3)|liver(1)|lung(13)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23						c.(655-657)cGc>cAc		prostaglandin E receptor 4 (subtype EP4)							11	11	11					5																	40681751		2184	4257	6441	SO:0001583	missense	5734				G-protein signaling, coupled to cAMP nucleotide second messenger|immune response	integral to membrane|plasma membrane	prostaglandin E receptor activity	g.chr5:40681751G>A	L28175	CCDS3930.1	5p13.1	2012-08-08			ENSG00000171522	ENSG00000171522		"GPCR / Class A : Prostanoid receptors"	9596	protein-coding gene	gene with protein product		601586				7759114, 8661119	Standard	NM_000958		Approved	EP4	uc003jlz.3	P35408	OTTHUMG00000094769	ENST00000302472.3:c.656G>A	5.37:g.40681751G>A	ENSP00000302846:p.Arg219His					PTGER4_ENST00000514343.1_3'UTR	p.R219H	NM_000958.2	NP_000949.1	P35408	PE2R4_HUMAN			2	1680	+			219					Q3MJ87	Missense_Mutation	SNP	ENST00000302472.3	37	c.656G>A	CCDS3930.1	.	.	.	.	.	.	.	.	.	.	G	36	5.888326	0.97068	.	.	ENSG00000171522	ENST00000302472	T	0.73575	-0.76	5.24	5.24	0.73138	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	D	0.86997	0.6068	M	0.81614	2.55	0.80722	D	1	D	0.89917	1.0	D	0.73380	0.98	D	0.87981	0.2743	10	0.56958	D	0.05	-26.8177	18.8547	0.92247	0.0:0.0:1.0:0.0	.	219	P35408	PE2R4_HUMAN	H	219	ENSP00000302846:R219H	ENSP00000302846:R219H	R	+	2	0	PTGER4	40717508	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.747000	0.98863	2.459000	0.83118	0.561000	0.74099	CGC		0.711	PTGER4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211578.2	NM_000958		9	3	0	0	0	1	0	9	3					A	40681751	G	A	40681751	3	1	435	1	0	0	0	0	1	0	0	0	12745	1087	38	1	658	1	PTGER4	5	40681751	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	1340504	40681751	140233509	2641	23566											
PTGER4	5734	broad.mit.edu	37	chr5	40681890	40681890	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcttccgccgcatcgcgggCgccgagatccagatggtcat	7	7	13	14	6	1	2	1	0	0	2	4	3	3	2	4	2	1	2	4	2	0	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:40681890C>T	ENST00000302472.3	+	2	1819	c.795C>T	c.(793-795)ggC>ggT	p.G265G		NM_000958.2	NP_000949.1	P35408	PE2R4_HUMAN	prostaglandin E receptor 4 (subtype EP4)	265					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|bone development (GO:0060348)|cellular response to mechanical stimulus (GO:0071260)|ERK1 and ERK2 cascade (GO:0070371)|immune response (GO:0006955)|JNK cascade (GO:0007254)|negative regulation of cytokine secretion (GO:0050710)|negative regulation of eosinophil extravasation (GO:2000420)|negative regulation of inflammatory response (GO:0050728)|negative regulation of integrin activation (GO:0033624)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of inflammatory response (GO:0050729)|regulation of ossification (GO:0030278)|regulation of stress fiber assembly (GO:0051492)|response to lipopolysaccharide (GO:0032496)|response to mechanical stimulus (GO:0009612)|T-helper cell differentiation (GO:0042093)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	prostaglandin E receptor activity (GO:0004957)			breast(1)|endometrium(3)|liver(1)|lung(13)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23					Dinoprostone(DB00917)|Misoprostol(DB00929)	GCATCGCGGGCGCCGAGATCC	0.706																																						ENST00000302472.3																			0				breast(1)|endometrium(3)|liver(1)|lung(13)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23						c.(793-795)ggC>ggT		prostaglandin E receptor 4 (subtype EP4)							20	23	22					5																	40681890		2111	4033	6144	SO:0001819	synonymous_variant	5734				G-protein signaling, coupled to cAMP nucleotide second messenger|immune response	integral to membrane|plasma membrane	prostaglandin E receptor activity	g.chr5:40681890C>T	L28175	CCDS3930.1	5p13.1	2012-08-08			ENSG00000171522	ENSG00000171522		"GPCR / Class A : Prostanoid receptors"	9596	protein-coding gene	gene with protein product		601586				7759114, 8661119	Standard	NM_000958		Approved	EP4	uc003jlz.3	P35408	OTTHUMG00000094769	ENST00000302472.3:c.795C>T	5.37:g.40681890C>T							p.G265G	NM_000958.2	NP_000949.1	P35408	PE2R4_HUMAN			2	1819	+			265					Q3MJ87	Silent	SNP	ENST00000302472.3	37	c.795C>T	CCDS3930.1																																																																																				0.706	PTGER4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211578.2	NM_000958		6	36	0	0	0	1	0	6	36					T	40681890	C	T	40681890	2	4	435	1	0	0	0	0	0	0	0	1	12745	755	27	1		1	PTGER4	5	40681890	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	139	40681890	140233370	2642	23567											
PTGER4	5734	broad.mit.edu	37	chr5	40691949	40691949	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtcagtaaaaatccagatttGcaggccatccgaattgcttc	12	11	8	10	1	1	1	1	0	0	1	4	2	3	1	3	1	2	3	3	1	4	4	rs190040616	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:40691949G>A	ENST00000302472.3	+	3	1960	c.936G>A	c.(934-936)ttG>ttA	p.L312L		NM_000958.2	NP_000949.1	P35408	PE2R4_HUMAN	prostaglandin E receptor 4 (subtype EP4)	312					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|bone development (GO:0060348)|cellular response to mechanical stimulus (GO:0071260)|ERK1 and ERK2 cascade (GO:0070371)|immune response (GO:0006955)|JNK cascade (GO:0007254)|negative regulation of cytokine secretion (GO:0050710)|negative regulation of eosinophil extravasation (GO:2000420)|negative regulation of inflammatory response (GO:0050728)|negative regulation of integrin activation (GO:0033624)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of inflammatory response (GO:0050729)|regulation of ossification (GO:0030278)|regulation of stress fiber assembly (GO:0051492)|response to lipopolysaccharide (GO:0032496)|response to mechanical stimulus (GO:0009612)|T-helper cell differentiation (GO:0042093)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	prostaglandin E receptor activity (GO:0004957)			breast(1)|endometrium(3)|liver(1)|lung(13)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23					Dinoprostone(DB00917)|Misoprostol(DB00929)	ATCCAGATTTGCAGGCCATCC	0.428													G|||	5	0.000998403	0	0	5008	,	,		19570	0		0.005	False		,,,				2504	0					ENST00000302472.3																			0				breast(1)|endometrium(3)|liver(1)|lung(13)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23						c.(934-936)ttG>ttA		prostaglandin E receptor 4 (subtype EP4)		G		0,4406		0,0,2203	115	115	115		936	5.6	1	5		115	2,8598	2.2+/-6.3	0,2,4298	yes	coding-synonymous	PTGER4	NM_000958.2		0,2,6501	AA,AG,GG		0.0233,0.0,0.0154		312/489	40691949	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	5734				G-protein signaling, coupled to cAMP nucleotide second messenger|immune response	integral to membrane|plasma membrane	prostaglandin E receptor activity	g.chr5:40691949G>A	L28175	CCDS3930.1	5p13.1	2012-08-08			ENSG00000171522	ENSG00000171522		"GPCR / Class A : Prostanoid receptors"	9596	protein-coding gene	gene with protein product		601586				7759114, 8661119	Standard	NM_000958		Approved	EP4	uc003jlz.3	P35408	OTTHUMG00000094769	ENST00000302472.3:c.936G>A	5.37:g.40691949G>A							p.L312L	NM_000958.2	NP_000949.1	P35408	PE2R4_HUMAN			3	1960	+			312					Q3MJ87	Silent	SNP	ENST00000302472.3	37	c.936G>A	CCDS3930.1																																																																																				0.428	PTGER4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211578.2	NM_000958		5	101	0	0	0	1	0	5	101					A	40691949	G	A	40691949	2	1	435	1	0	0	0	0	0	0	0	1	12745	1310	46	3		3	PTGER4	5	40691949	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	10059	40691949	140223311	2643	23568											
CARD6	84674	broad.mit.edu	37	chr5	40843385	40843385	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgttcttcagtgagaaggaaCacttggatttggaaacctct	11	13	10	7	0	3	1	1	1	2	1	3	5	3	4	1	3	2	1	1	3	3	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:40843385C>T	ENST00000254691.5	+	2	614	c.415C>T	c.(415-417)Cac>Tac	p.H139Y	CARD6_ENST00000381677.3_Missense_Mutation_p.H139Y	NM_032587.3	NP_115976.2	Q9BX69	CARD6_HUMAN	caspase recruitment domain family, member 6	139					apoptotic process (GO:0006915)|regulation of apoptotic process (GO:0042981)					NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(2)|lung(29)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	62						TGAGAAGGAACACTTGGATTT	0.428																																						ENST00000254691.5																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(2)|lung(29)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	62						c.(415-417)Cac>Tac		caspase recruitment domain family, member 6							57	59	58					5																	40843385		2203	4300	6503	SO:0001583	missense	84674				apoptosis|regulation of apoptosis	intracellular		g.chr5:40843385C>T	AF356193	CCDS3935.1	5p13.1	2008-05-23			ENSG00000132357	ENSG00000132357			16394	protein-coding gene	gene with protein product		609986				12775719	Standard	NM_032587		Approved	CINCIN1	uc003jmg.3	Q9BX69	OTTHUMG00000094775	ENST00000254691.5:c.415C>T	5.37:g.40843385C>T	ENSP00000254691:p.His139Tyr					CARD6_ENST00000381677.3_Missense_Mutation_p.H139Y	p.H139Y	NM_032587.3	NP_115976.2	Q9BX69	CARD6_HUMAN			2	614	+			139					Q52LR2	Missense_Mutation	SNP	ENST00000254691.5	37	c.415C>T	CCDS3935.1	.	.	.	.	.	.	.	.	.	.	C	4.395	0.072925	0.08436	.	.	ENSG00000132357	ENST00000254691;ENST00000381677;ENST00000444789;ENST00000509771	T;T	0.32753	2.67;1.44	5.22	2.47	0.30058	.	1.503420	0.03780	N	0.261159	T	0.19685	0.0473	L	0.27053	0.805	0.09310	N	1	B	0.11235	0.004	B	0.06405	0.002	T	0.21827	-1.0234	10	0.02654	T	1	4.0601	6.4079	0.21674	0.0:0.696:0.0:0.304	.	139	Q9BX69	CARD6_HUMAN	Y	139	ENSP00000254691:H139Y;ENSP00000371093:H139Y	ENSP00000254691:H139Y	H	+	1	0	CARD6	40879142	0.008000	0.16893	0.098000	0.21074	0.301000	0.27625	0.318000	0.19504	0.353000	0.24079	0.655000	0.94253	CAC		0.428	CARD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211584.3			9	52	0	0	0	1	0	9	52					T	40843385	C	T	40843385	3	4	435	1	0	0	0	0	1	0	0	0	2650	478	17	3	421	3	CARD6	5	40843385	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	151436	40843385	140071875	2644	23569											
OXCT1	5019	broad.mit.edu	37	chr5	41762226	41762226	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgttacctttgcagaatgcTccatggtgaccaccactttg	9	13	8	11	0	0	2	0	1	0	1	1	2	1	2	4	1	3	3	4	1	2	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:41762226T>C	ENST00000196371.5	-	14	1485	c.1325A>G	c.(1324-1326)gAg>gGg	p.E442G	OXCT1_ENST00000509987.1_Missense_Mutation_p.E256G|OXCT1_ENST00000513081.1_5'UTR|OXCT1_ENST00000510634.1_Missense_Mutation_p.E45G|OXCT1_ENST00000512084.1_Missense_Mutation_p.E45G	NM_000436.3	NP_000427.1	P55809	SCOT1_HUMAN	3-oxoacid CoA transferase 1	442					adipose tissue development (GO:0060612)|brain development (GO:0007420)|cellular ketone body metabolic process (GO:0046950)|cellular lipid metabolic process (GO:0044255)|cellular response to acid chemical (GO:0071229)|cellular response to glucose stimulus (GO:0071333)|heart development (GO:0007507)|ketone body catabolic process (GO:0046952)|ketone catabolic process (GO:0042182)|positive regulation of insulin secretion (GO:0032024)|response to activity (GO:0014823)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to hormone (GO:0009725)|response to nutrient (GO:0007584)|response to starvation (GO:0042594)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	3-oxoacid CoA-transferase activity (GO:0008260)|protein homodimerization activity (GO:0042803)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(2)	28					Succinic acid(DB00139)	TGCAGAATGCTCCATGGTGAC	0.438																																						ENST00000196371.5																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(2)	28						c.(1324-1326)gAg>gGg		3-oxoacid CoA transferase 1	Succinic acid(DB00139)						279	244	256					5																	41762226		2203	4300	6503	SO:0001583	missense	5019				cellular lipid metabolic process|ketone body catabolic process	mitochondrial matrix	3-oxoacid CoA-transferase activity|protein homodimerization activity	g.chr5:41762226T>C	U62961	CCDS3937.1	5p13	2008-02-05		2004-05-12	ENSG00000083720	ENSG00000083720			8527	protein-coding gene	gene with protein product		601424	"3-oxoacid CoA transferase"	OXCT		8751852	Standard	NM_000436		Approved	SCOT	uc003jmn.3	P55809	OTTHUMG00000094783	ENST00000196371.5:c.1325A>G	5.37:g.41762226T>C	ENSP00000196371:p.Glu442Gly					OXCT1_ENST00000510634.1_Missense_Mutation_p.E45G|OXCT1_ENST00000513081.1_5'UTR|OXCT1_ENST00000509987.1_Missense_Mutation_p.E256G|OXCT1_ENST00000512084.1_Missense_Mutation_p.E45G	p.E442G	NM_000436.3	NP_000427.1	P55809	SCOT1_HUMAN			14	1485	-			442					B2R5V2|B7Z528	Missense_Mutation	SNP	ENST00000196371.5	37	c.1325A>G	CCDS3937.1	.	.	.	.	.	.	.	.	.	.	T	26.5	4.745879	0.89663	.	.	ENSG00000083720	ENST00000196371;ENST00000512084;ENST00000510634;ENST00000509987	D;D;D;D	0.88354	-2.37;-2.37;-2.37;-2.37	4.97	4.97	0.65823	3-oxoacid CoA-transferase, subunit B (1);	0.000000	0.85682	D	0.000000	D	0.95522	0.8545	H	0.95043	3.615	0.80722	D	1	D	0.62365	0.991	P	0.61940	0.896	D	0.96709	0.9524	10	0.87932	D	0	-17.7796	13.9433	0.64069	0.0:0.0:0.0:1.0	.	442	P55809	SCOT1_HUMAN	G	442;45;45;256	ENSP00000196371:E442G;ENSP00000421143:E45G;ENSP00000423144:E45G;ENSP00000425348:E256G	ENSP00000196371:E442G	E	-	2	0	OXCT1	41797983	1.000000	0.71417	0.997000	0.53966	0.989000	0.77384	7.176000	0.77643	1.973000	0.57446	0.533000	0.62120	GAG		0.438	OXCT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211594.2	NM_000436		6	111	0	0	0	1	0	6	111					C	41762226	T	C	41762226	3	2	435	1	0	0	0	0	1	0	0	0	11329	1551	54	4	253	4	OXCT1	5	41762226	Missense_Mutation	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	918841	41762226	139153034	2645	23570											
OXCT1	5019	broad.mit.edu	37	chr5	41794151	41794151	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	catatttggaaacctgcatcGctcctagcattgtcagatcg	10	12	8	11	2	1	1	1	0	0	1	4	2	2	2	2	1	3	3	2	1	3	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:41794151G>A	ENST00000196371.5	-	13	1362	c.1202C>T	c.(1201-1203)gCg>gTg	p.A401V	OXCT1_ENST00000509987.1_Missense_Mutation_p.A215V|OXCT1_ENST00000513081.1_5'UTR|OXCT1_ENST00000510634.1_Missense_Mutation_p.A4V|OXCT1_ENST00000512084.1_Missense_Mutation_p.A4V	NM_000436.3	NP_000427.1	P55809	SCOT1_HUMAN	3-oxoacid CoA transferase 1	401					adipose tissue development (GO:0060612)|brain development (GO:0007420)|cellular ketone body metabolic process (GO:0046950)|cellular lipid metabolic process (GO:0044255)|cellular response to acid chemical (GO:0071229)|cellular response to glucose stimulus (GO:0071333)|heart development (GO:0007507)|ketone body catabolic process (GO:0046952)|ketone catabolic process (GO:0042182)|positive regulation of insulin secretion (GO:0032024)|response to activity (GO:0014823)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to hormone (GO:0009725)|response to nutrient (GO:0007584)|response to starvation (GO:0042594)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	3-oxoacid CoA-transferase activity (GO:0008260)|protein homodimerization activity (GO:0042803)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(2)	28					Succinic acid(DB00139)	AACCTGCATCGCTCCTAGCAT	0.383																																						ENST00000196371.5																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(2)	28						c.(1201-1203)gCg>gTg		3-oxoacid CoA transferase 1	Succinic acid(DB00139)						122	119	120					5																	41794151		2203	4300	6503	SO:0001583	missense	5019				cellular lipid metabolic process|ketone body catabolic process	mitochondrial matrix	3-oxoacid CoA-transferase activity|protein homodimerization activity	g.chr5:41794151G>A	U62961	CCDS3937.1	5p13	2008-02-05		2004-05-12	ENSG00000083720	ENSG00000083720			8527	protein-coding gene	gene with protein product		601424	"3-oxoacid CoA transferase"	OXCT		8751852	Standard	NM_000436		Approved	SCOT	uc003jmn.3	P55809	OTTHUMG00000094783	ENST00000196371.5:c.1202C>T	5.37:g.41794151G>A	ENSP00000196371:p.Ala401Val					OXCT1_ENST00000510634.1_Missense_Mutation_p.A4V|OXCT1_ENST00000513081.1_5'UTR|OXCT1_ENST00000509987.1_Missense_Mutation_p.A215V|OXCT1_ENST00000512084.1_Missense_Mutation_p.A4V	p.A401V	NM_000436.3	NP_000427.1	P55809	SCOT1_HUMAN			13	1362	-			401					B2R5V2|B7Z528	Missense_Mutation	SNP	ENST00000196371.5	37	c.1202C>T	CCDS3937.1	.	.	.	.	.	.	.	.	.	.	G	35	5.470145	0.96274	.	.	ENSG00000083720	ENST00000196371;ENST00000512084;ENST00000510634;ENST00000509987	D;D;D;D	0.92199	-2.99;-2.99;-2.99;-2.99	5.87	5.87	0.94306	3-oxoacid CoA-transferase, subunit B (1);	0.103899	0.64402	D	0.000004	D	0.97470	0.9172	H	0.95365	3.66	0.80722	D	1	D	0.89917	1.0	D	0.75484	0.986	D	0.98141	1.0436	10	0.87932	D	0	-17.8192	18.9706	0.92713	0.0:0.0:1.0:0.0	.	401	P55809	SCOT1_HUMAN	V	401;4;4;215	ENSP00000196371:A401V;ENSP00000421143:A4V;ENSP00000423144:A4V;ENSP00000425348:A215V	ENSP00000196371:A401V	A	-	2	0	OXCT1	41829908	1.000000	0.71417	0.997000	0.53966	0.980000	0.70556	7.408000	0.80041	2.775000	0.95449	0.650000	0.86243	GCG		0.383	OXCT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211594.2	NM_000436		49	98	0	0	0	1	0	49	98					A	41794151	G	A	41794151	3	1	435	1	0	0	0	0	1	0	0	0	11329	1087	38	1	380	1	OXCT1	5	41794151	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	31925	41794151	139121109	2646	23571											
OXCT1	5019	broad.mit.edu	37	chr5	41805725	41805725	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgatgattcgttcccttacgTcatctccaggtttagcagat	8	15	8	10	2	2	3	1	2	1	1	5	3	3	3	2	1	2	3	2	1	2	5	rs534151467		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:41805725T>C	ENST00000196371.5	-	9	1059	c.899A>G	c.(898-900)gAc>gGc	p.D300G	OXCT1_ENST00000509987.1_Missense_Mutation_p.D114G	NM_000436.3	NP_000427.1	P55809	SCOT1_HUMAN	3-oxoacid CoA transferase 1	300					adipose tissue development (GO:0060612)|brain development (GO:0007420)|cellular ketone body metabolic process (GO:0046950)|cellular lipid metabolic process (GO:0044255)|cellular response to acid chemical (GO:0071229)|cellular response to glucose stimulus (GO:0071333)|heart development (GO:0007507)|ketone body catabolic process (GO:0046952)|ketone catabolic process (GO:0042182)|positive regulation of insulin secretion (GO:0032024)|response to activity (GO:0014823)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to hormone (GO:0009725)|response to nutrient (GO:0007584)|response to starvation (GO:0042594)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	3-oxoacid CoA-transferase activity (GO:0008260)|protein homodimerization activity (GO:0042803)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(2)	28					Succinic acid(DB00139)	TTCCCTTACGTCATCTCCAGG	0.443													T|||	1	0.000199681	0	0	5008	,	,		17309	0.001		0	False		,,,				2504	0					ENST00000196371.5																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(2)	28						c.(898-900)gAc>gGc		3-oxoacid CoA transferase 1	Succinic acid(DB00139)						143	141	142					5																	41805725		2203	4300	6503	SO:0001583	missense	5019				cellular lipid metabolic process|ketone body catabolic process	mitochondrial matrix	3-oxoacid CoA-transferase activity|protein homodimerization activity	g.chr5:41805725T>C	U62961	CCDS3937.1	5p13	2008-02-05		2004-05-12	ENSG00000083720	ENSG00000083720			8527	protein-coding gene	gene with protein product		601424	"3-oxoacid CoA transferase"	OXCT		8751852	Standard	NM_000436		Approved	SCOT	uc003jmn.3	P55809	OTTHUMG00000094783	ENST00000196371.5:c.899A>G	5.37:g.41805725T>C	ENSP00000196371:p.Asp300Gly					OXCT1_ENST00000509987.1_Missense_Mutation_p.D114G	p.D300G	NM_000436.3	NP_000427.1	P55809	SCOT1_HUMAN			9	1059	-			300					B2R5V2|B7Z528	Missense_Mutation	SNP	ENST00000196371.5	37	c.899A>G	CCDS3937.1	.	.	.	.	.	.	.	.	.	.	T	8.657	0.899678	0.17686	.	.	ENSG00000083720	ENST00000196371;ENST00000509987	D;D	0.92752	-3.1;-3.1	5.65	4.48	0.54585	.	0.581714	0.19475	N	0.113349	D	0.87458	0.6182	L	0.54323	1.7	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.73836	-0.3857	10	0.23302	T	0.38	-7.021	6.4548	0.21924	0.138:0.0756:0.0:0.7864	.	300	P55809	SCOT1_HUMAN	G	300;114	ENSP00000196371:D300G;ENSP00000425348:D114G	ENSP00000196371:D300G	D	-	2	0	OXCT1	41841482	0.996000	0.38824	0.001000	0.08648	0.479000	0.33129	2.928000	0.48908	1.062000	0.40625	0.528000	0.53228	GAC		0.443	OXCT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211594.2	NM_000436		14	32	0	0	0	1	0	14	32					C	41805725	T	C	41805725	3	2	435	1	0	0	0	0	1	0	0	0	11329	1667	58	4	699	4	OXCT1	5	41805725	Missense_Mutation	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	11574	41805725	139109535	2647	23572											
C5orf51	285636	broad.mit.edu	37	chr5	41917210	41917210	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtgctgatcagcaaccagaaAatcatgaagtggatactagt	15	9	10	7	0	2	3	2	2	0	1	2	4	2	4	1	1	4	2	1	1	6	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:41917210A>C	ENST00000381647.2	+	6	713	c.694A>C	c.(694-696)Aat>Cat	p.N232H		NM_175921.4	NP_787117.3	A6NDU8	CE051_HUMAN	chromosome 5 open reading frame 51	232										endometrium(1)|large_intestine(5)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	11						GCAACCAGAAAATCATGAAGT	0.418																																						ENST00000381647.2																			0				endometrium(1)|large_intestine(5)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	11						c.(694-696)Aat>Cat		chromosome 5 open reading frame 51							124	119	121					5																	41917210		2203	4300	6503	SO:0001583	missense	285636							g.chr5:41917210A>C	AL833916, AK094002	CCDS34151.1	5p13.1	2008-07-18			ENSG00000205765	ENSG00000205765			27750	protein-coding gene	gene with protein product						14702039	Standard	NM_175921		Approved	LOC285636	uc003jmo.3	A6NDU8	OTTHUMG00000162084	ENST00000381647.2:c.694A>C	5.37:g.41917210A>C	ENSP00000371061:p.Asn232His						p.N232H	NM_175921.4	NP_787117.3	A6NDU8	CE051_HUMAN			6	713	+			232					A2RRM9	Missense_Mutation	SNP	ENST00000381647.2	37	c.694A>C	CCDS34151.1	.	.	.	.	.	.	.	.	.	.	A	8.602	0.887119	0.17540	.	.	ENSG00000205765	ENST00000381647	D	0.82255	-1.59	5.67	1.68	0.24146	.	0.425256	0.24357	N	0.039225	T	0.64305	0.2586	N	0.12182	0.205	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.52388	-0.8582	10	0.37606	T	0.19	-1.7831	6.4428	0.21859	0.6216:0.3003:0.0781:0.0	.	232	A6NDU8	CE051_HUMAN	H	232	ENSP00000371061:N232H	ENSP00000371061:N232H	N	+	1	0	C5orf51	41952967	0.358000	0.24947	0.078000	0.20375	0.452000	0.32318	1.038000	0.30254	0.398000	0.25338	-0.250000	0.11733	AAT		0.418	C5orf51-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367144.1	NM_175921		30	60	0	0	0	1	0	30	60					C	41917210	A	C	41917210	3	2	435	1	0	0	0	0	1	0	0	0	2308	14	1	5	716	5	C5orf51	5	41917210	Missense_Mutation	SNP	A	TCGA-XK-AAIW-01A-11D-A41K-08	111485	41917210	138998050	2648	23573											
FGF10	2255	broad.mit.edu	37	chr5	44388600	44388600	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccgcacatgccttcccgcgCtggaaggagaggagaaggag	10	5	15	11	3	0	2	0	0	0	2	2	6	2	4	3	4	1	2	3	4	2	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:44388600C>T	ENST00000264664.4	-	1	299	c.185G>A	c.(184-186)aGc>aAc	p.S62N	RP11-473L15.2_ENST00000502457.1_RNA	NM_004465.1	NP_004456.1	O15520	FGF10_HUMAN	fibroblast growth factor 10	62	Poly-Ser.				actin cytoskeleton reorganization (GO:0031532)|activation of MAPK activity (GO:0000187)|angiogenesis (GO:0001525)|blood vessel remodeling (GO:0001974)|branch elongation involved in salivary gland morphogenesis (GO:0060667)|branching morphogenesis of an epithelial tube (GO:0048754)|bronchiole morphogenesis (GO:0060436)|bud elongation involved in lung branching (GO:0060449)|bud outgrowth involved in lung branching (GO:0060447)|determination of left/right symmetry (GO:0007368)|embryonic camera-type eye development (GO:0031076)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic genitalia morphogenesis (GO:0030538)|embryonic pattern specification (GO:0009880)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell migration (GO:0010631)|epithelial cell proliferation (GO:0050673)|epithelial cell proliferation involved in salivary gland morphogenesis (GO:0060664)|ERK1 and ERK2 cascade (GO:0070371)|establishment of mitotic spindle orientation (GO:0000132)|Fc-epsilon receptor signaling pathway (GO:0038095)|female genitalia morphogenesis (GO:0048807)|fibroblast growth factor receptor signaling pathway (GO:0008543)|fibroblast growth factor receptor signaling pathway involved in mammary gland specification (GO:0060595)|hair follicle morphogenesis (GO:0031069)|Harderian gland development (GO:0070384)|induction of positive chemotaxis (GO:0050930)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|keratinocyte proliferation (GO:0043616)|lacrimal gland development (GO:0032808)|limb bud formation (GO:0060174)|lung epithelium development (GO:0060428)|lung proximal/distal axis specification (GO:0061115)|lung saccule development (GO:0060430)|male genitalia morphogenesis (GO:0048808)|mammary gland bud formation (GO:0060615)|mesenchymal cell differentiation involved in lung development (GO:0060915)|mesenchymal-epithelial cell signaling involved in lung development (GO:0060496)|mesonephros development (GO:0001823)|metanephros development (GO:0001656)|metanephros morphogenesis (GO:0003338)|muscle cell fate commitment (GO:0042693)|negative regulation of cell cycle arrest (GO:0071157)|negative regulation of cell proliferation (GO:0008285)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|neurotrophin TRK receptor signaling pathway (GO:0048011)|odontogenesis of dentin-containing tooth (GO:0042475)|organ induction (GO:0001759)|otic vesicle formation (GO:0030916)|pancreas development (GO:0031016)|phosphatidylinositol-mediated signaling (GO:0048015)|pituitary gland development (GO:0021983)|positive chemotaxis (GO:0050918)|positive regulation of ATPase activity (GO:0032781)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of DNA repair (GO:0045739)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial cell proliferation involved in wound healing (GO:0060054)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of hair follicle cell proliferation (GO:0071338)|positive regulation of keratinocyte migration (GO:0051549)|positive regulation of keratinocyte proliferation (GO:0010838)|positive regulation of lymphocyte proliferation (GO:0050671)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of Ras protein signal transduction (GO:0046579)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of urothelial cell proliferation (GO:0050677)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|positive regulation of white fat cell proliferation (GO:0070352)|prostatic bud formation (GO:0060513)|protein localization to cell surface (GO:0034394)|radial glial cell differentiation (GO:0060019)|regulation of activin receptor signaling pathway (GO:0032925)|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling (GO:0060665)|regulation of saliva secretion (GO:0046877)|regulation of smoothened signaling pathway (GO:0008589)|response to estradiol (GO:0032355)|response to lipopolysaccharide (GO:0032496)|salivary gland development (GO:0007431)|secretion by lung epithelial cell involved in lung growth (GO:0061033)|semicircular canal fusion (GO:0060879)|smooth muscle cell differentiation (GO:0051145)|somatic stem cell maintenance (GO:0035019)|spleen development (GO:0048536)|submandibular salivary gland formation (GO:0060661)|tear secretion (GO:0070075)|thymus development (GO:0048538)|thyroid gland development (GO:0030878)|tissue regeneration (GO:0042246)|Type II pneumocyte differentiation (GO:0060510)|urothelial cell proliferation (GO:0050674)|white fat cell differentiation (GO:0050872)|wound healing (GO:0042060)	cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	chemoattractant activity (GO:0042056)|fibroblast growth factor receptor binding (GO:0005104)|growth factor activity (GO:0008083)|heparin binding (GO:0008201)|type 2 fibroblast growth factor receptor binding (GO:0005111)			haematopoietic_and_lymphoid_tissue(1)|lung(11)|skin(1)	13	Lung NSC(6;1.12e-06)					CCTTCCCGCGCTGGAAGGAGA	0.527																																						ENST00000264664.4																			0				haematopoietic_and_lymphoid_tissue(1)|lung(11)|skin(1)	13						c.(184-186)aGc>aAc		fibroblast growth factor 10							57	58	58					5																	44388600		2203	4300	6503	SO:0001583	missense	2255				actin cytoskeleton reorganization|activation of MAPK activity|bud outgrowth involved in lung branching|ERK1 and ERK2 cascade|fibroblast growth factor receptor signaling pathway involved in mammary gland specification|insulin receptor signaling pathway|lacrimal gland development|lung saccule development|mesonephros development|negative regulation of cell cycle arrest|positive regulation of ATPase activity|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of DNA repair|positive regulation of DNA replication|positive regulation of epithelial cell migration|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of ERK1 and ERK2 cascade|positive regulation of hair follicle cell proliferation|positive regulation of keratinocyte migration|positive regulation of keratinocyte proliferation|positive regulation of lymphocyte proliferation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of Ras protein signal transduction|positive regulation of transcription, DNA-dependent|positive regulation of urothelial cell proliferation|protein localization at cell surface|radial glial cell differentiation|regulation of saliva secretion|response to protein stimulus|secretion by lung epithelial cell involved in lung growth|tear secretion|thymus development|urothelial cell proliferation	cell surface|extracellular space|nucleus|plasma membrane	chemoattractant activity|growth factor activity|heparin binding|type 2 fibroblast growth factor receptor binding	g.chr5:44388600C>T		CCDS3950.1	5p13-p12	2008-02-05			ENSG00000070193	ENSG00000070193			3666	protein-coding gene	gene with protein product		602115				9287324	Standard	NM_004465		Approved		uc003jog.1	O15520	OTTHUMG00000131153	ENST00000264664.4:c.185G>A	5.37:g.44388600C>T	ENSP00000264664:p.Ser62Asn						p.S62N	NM_004465.1	NP_004456.1	O15520	FGF10_HUMAN			1	299	-	Lung NSC(6;1.12e-06)		62			Poly-Ser.		C7FDY0|Q6FHR3|Q6FHT6|Q96P59	Missense_Mutation	SNP	ENST00000264664.4	37	c.185G>A	CCDS3950.1	.	.	.	.	.	.	.	.	.	.	C	12.71	2.020409	0.35606	.	.	ENSG00000070193	ENST00000264664;ENST00000513107	T	0.75477	-0.94	5.14	5.14	0.70334	.	0.962371	0.08417	U	0.949019	T	0.66356	0.2781	L	0.47016	1.485	0.29437	N	0.859432	P	0.38978	0.652	B	0.26693	0.072	T	0.59690	-0.7407	10	0.20046	T	0.44	.	16.4057	0.83669	0.0:1.0:0.0:0.0	.	62	O15520	FGF10_HUMAN	N	62	ENSP00000264664:S62N	ENSP00000264664:S62N	S	-	2	0	FGF10	44424357	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	5.194000	0.65125	2.383000	0.81215	0.561000	0.74099	AGC		0.527	FGF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253845.2	NM_004465		15	21	0	0	0	1	0	15	21					T	44388600	C	T	44388600	3	4	435	1	0	0	0	0	1	0	0	0	5839	797	28	3	453	3	FGF10	5	44388600	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	2471390	44388600	136526660	2649	23574											
HCN1	348980	broad.mit.edu	37	chr5	45262080	45262080	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gggtctgtgtttaagactgaGgaagattctcttggaagagc	10	12	14	5	0	2	4	0	1	2	3	3	6	2	6	0	3	1	1	0	3	3	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:45262080G>T	ENST00000303230.4	-	8	2673	c.2616C>A	c.(2614-2616)tcC>tcA	p.S872S		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	872					apical protein localization (GO:0045176)|cellular response to cAMP (GO:0071320)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|retinal cone cell development (GO:0046549)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|intracellular cAMP activated cation channel activity (GO:0005222)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated sodium channel activity (GO:0005248)			NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						TTAAGACTGAGGAAGATTCTC	0.507																																						ENST00000303230.4																			0				NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						c.(2614-2616)tcC>tcA		hyperpolarization activated cyclic nucleotide-gated potassium channel 1							81	96	91					5																	45262080		2203	4300	6503	SO:0001819	synonymous_variant	348980					integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity	g.chr5:45262080G>T	AF064876	CCDS3952.1	5p12	2011-07-05			ENSG00000164588	ENSG00000164588		"Voltage-gated ion channels / Cyclic nucleotide-regulated channels"	4845	protein-coding gene	gene with protein product		602780		BCNG1		9405696, 9630217, 16382102	Standard	NM_021072		Approved	BCNG-1, HAC-2	uc003jok.3	O60741	OTTHUMG00000131155	ENST00000303230.4:c.2616C>A	5.37:g.45262080G>T							p.S872S	NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN			8	2673	-			872						Silent	SNP	ENST00000303230.4	37	c.2616C>A	CCDS3952.1																																																																																				0.507	HCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253847.1	NM_021072		30	58	1	0	3.73148e-12	1	4.03096e-12	30	58					T	45262080	G	T	45262080	2	4	435	1	0	0	0	0	0	0	0	1	6996	987	35	5		5	HCN1	5	45262080	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	873480	45262080	135653180	2650	23575											
EMB	133418	broad.mit.edu	37	chr5	49724057	49724057	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaggtggacttgtaaaaggCgaatctataagagaaagaac	18	7	12	4	1	1	3	0	0	1	3	1	6	1	4	0	3	1	1	0	3	7	4	rs112602380	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:49724057C>T	ENST00000303221.5	-	2	332	c.117G>A	c.(115-117)tcG>tcA	p.S39S	EMB_ENST00000514111.1_5'UTR|EMB_ENST00000506190.1_5'UTR|EMB_ENST00000508934.1_Silent_p.S39S	NM_198449.2	NP_940851.1	Q6PCB8	EMB_HUMAN	embigin	39					cell adhesion (GO:0007155)|plasma membrane lactate transport (GO:0035879)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|synapse (GO:0045202)	organic cyclic compound binding (GO:0097159)			breast(2)|endometrium(3)|large_intestine(4)|lung(4)|skin(2)	15	Lung SC(58;0.218)	Lung NSC(810;0.0795)				TTGTAAAAGGCGAATCTATAA	0.328													C|||	2	0.000399361	0	0.0014	5008	,	,		17130	0.001		0	False		,,,				2504	0					ENST00000303221.5																			0				breast(2)|endometrium(3)|large_intestine(4)|lung(4)|skin(2)	15						c.(115-117)tcG>tcA		embigin							92	92	92					5																	49724057		2203	4300	6503	SO:0001819	synonymous_variant	133418					integral to membrane		g.chr5:49724057C>T	BC059398	CCDS3953.1	5q11.1	2013-01-29	2010-06-24		ENSG00000170571	ENSG00000170571		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	30465	protein-coding gene	gene with protein product		615669	"embigin homolog (mouse)"			9438341	Standard	NM_198449		Approved	MGC71745	uc003jom.3	Q6PCB8	OTTHUMG00000131161	ENST00000303221.5:c.117G>A	5.37:g.49724057C>T						EMB_ENST00000514111.1_5'UTR|EMB_ENST00000506190.1_5'UTR|EMB_ENST00000508934.1_Silent_p.S39S	p.S39S	NM_198449.2	NP_940851.1	Q6PCB8	EMB_HUMAN			2	332	-	Lung SC(58;0.218)	Lung NSC(810;0.0795)	39					B7Z6S3|B7Z902	Silent	SNP	ENST00000303221.5	37	c.117G>A	CCDS3953.1																																																																																				0.328	EMB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253853.1	NM_198449		12	23	0	0	0	1	0	12	23					T	49724057	C	T	49724057	2	4	435	1	0	0	0	0	0	0	0	1	5085	755	27	1		1	EMB	5	49724057	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	4461977	49724057	131191203	2651	23576											
PARP8	79668	broad.mit.edu	37	chr5	50137867	50137867	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggcattcacaaagagatcCtccgagtaattggtaatcaa	15	9	9	8	1	2	1	2	0	0	1	4	4	4	1	2	2	0	3	2	2	4	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:50137867C>A	ENST00000281631.5	+	26	2688	c.2530C>A	c.(2530-2532)Ctc>Atc	p.L844I	PARP8_ENST00000505554.1_Missense_Mutation_p.L823I|PARP8_ENST00000503750.2_Missense_Mutation_p.L802I|PARP8_ENST00000505697.2_Missense_Mutation_p.L844I|PARP8_ENST00000511363.2_3'UTR|PARP8_ENST00000514067.2_Missense_Mutation_p.L802I	NM_001178056.1|NM_024615.3	NP_001171527.1|NP_078891.2	Q8N3A8	PARP8_HUMAN	poly (ADP-ribose) polymerase family, member 8	844	PARP catalytic. {ECO:0000255|PROSITE- ProRule:PRU00397}.					intracellular (GO:0005622)	NAD+ ADP-ribosyltransferase activity (GO:0003950)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Lung NSC(810;0.0305)|Breast(144;0.222)				CAAAGAGATCCTCCGAGTAAT	0.368																																						ENST00000281631.5																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	49						c.(2530-2532)Ctc>Atc		poly (ADP-ribose) polymerase family, member 8							85	80	82					5																	50137867		2203	4300	6503	SO:0001583	missense	79668					intracellular	NAD+ ADP-ribosyltransferase activity	g.chr5:50137867C>A	AL834477	CCDS3954.1, CCDS54849.1	5q11.2	2010-02-16			ENSG00000151883	ENSG00000151883		"Poly (ADP-ribose) polymerases"	26124	protein-coding gene	gene with protein product						15273990	Standard	NM_001178055		Approved	FLJ21308, pART16	uc003joo.3	Q8N3A8	OTTHUMG00000096969	ENST00000281631.5:c.2530C>A	5.37:g.50137867C>A	ENSP00000281631:p.Leu844Ile					PARP8_ENST00000505554.1_Missense_Mutation_p.L823I|PARP8_ENST00000503750.2_Missense_Mutation_p.L802I|PARP8_ENST00000505697.2_Missense_Mutation_p.L844I|PARP8_ENST00000514067.2_Missense_Mutation_p.L802I|PARP8_ENST00000511363.2_3'UTR	p.L844I	NM_001178056.1|NM_024615.3	NP_001171527.1|NP_078891.2	Q8N3A8	PARP8_HUMAN			26	2688	+		Lung NSC(810;0.0305)|Breast(144;0.222)	844			PARP catalytic.		Q3KRB7|Q6DHZ1|Q9H754	Missense_Mutation	SNP	ENST00000281631.5	37	c.2530C>A	CCDS3954.1	.	.	.	.	.	.	.	.	.	.	C	23.1	4.380883	0.82792	.	.	ENSG00000151883	ENST00000505697;ENST00000503750;ENST00000281631;ENST00000514067;ENST00000505554	.	.	.	6.08	6.08	0.98989	Poly(ADP-ribose) polymerase, catalytic domain (1);	0.000000	0.64402	D	0.000001	T	0.74473	0.3721	L	0.44542	1.39	0.80722	D	1	P;D;P	0.56035	0.956;0.974;0.956	D;D;D	0.70487	0.931;0.969;0.931	T	0.68849	-0.5300	8	.	.	.	-15.0172	20.6634	0.99662	0.0:1.0:0.0:0.0	.	736;802;844	B4DQ81;Q8N3A8-2;Q8N3A8	.;.;PARP8_HUMAN	I	844;802;844;802;823	.	.	L	+	1	0	PARP8	50173624	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.412000	0.52679	2.894000	0.99253	0.655000	0.94253	CTC		0.368	PARP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214035.3	NM_024615		25	43	1	0	1.66031e-10	1	1.77558e-10	25	43					A	50137867	C	A	50137867	3	1	435	1	0	0	0	0	1	0	0	0	11465	681	24	5	2632	5	PARP8	5	50137867	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	413810	50137867	130777393	2652	23577											
PELO	53918	broad.mit.edu	37	chr5	52096504	52096504	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	accaacatccaagagaatgaGtatgtcaagatgggggctta	15	8	11	7	0	1	3	1	1	0	2	2	4	2	3	2	2	1	2	2	2	6	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:52096504G>T	ENST00000274311.2	+	2	1261	c.276G>T	c.(274-276)gaG>gaT	p.E92D	ITGA1_ENST00000504086.1_Intron|ITGA1_ENST00000282588.6_Intron|PELO_ENST00000506949.1_Intron	NM_015946.4	NP_057030.3	Q9BRX2	PELO_HUMAN	pelota homolog (Drosophila)	92					cell cycle (GO:0007049)|cell division (GO:0051301)|cell proliferation (GO:0008283)|chromosome organization (GO:0051276)|nuclear-transcribed mRNA catabolic process, no-go decay (GO:0070966)|nuclear-transcribed mRNA catabolic process, non-stop decay (GO:0070481)|RNA surveillance (GO:0071025)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)	11		Lung NSC(810;4.94e-05)|Breast(144;0.0848)				AAGAGAATGAGTATGTCAAGA	0.587																																						ENST00000274311.2																			0				breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)	11						c.(274-276)gaG>gaT		pelota homolog (Drosophila)							73	70	71					5																	52096504		2203	4300	6503	SO:0001583	missense	53918				cell cycle|cell division|translation	cytoplasm|nucleus	endonuclease activity|metal ion binding|protein binding	g.chr5:52096504G>T		CCDS3956.1	5q11.2	2008-07-18	2001-11-28		ENSG00000152684	ENSG00000152684			8829	protein-coding gene	gene with protein product		605757	"pelota (Drosophila) homolog"			11060452	Standard	NM_015946		Approved		uc003jos.3	Q9BRX2	OTTHUMG00000096973	ENST00000274311.2:c.276G>T	5.37:g.52096504G>T	ENSP00000274311:p.Glu92Asp					ITGA1_ENST00000282588.6_Intron|PELO_ENST00000506949.1_Intron|ITGA1_ENST00000504086.1_Intron	p.E92D	NM_015946.4	NP_057030.3	Q9BRX2	PELO_HUMAN			2	1261	+		Lung NSC(810;4.94e-05)|Breast(144;0.0848)	92					Q9GZS6|Q9Y306	Missense_Mutation	SNP	ENST00000274311.2	37	c.276G>T	CCDS3956.1	.	.	.	.	.	.	.	.	.	.	G	11.93	1.785005	0.31593	.	.	ENSG00000152684	ENST00000274311	T	0.49139	0.79	5.66	2.94	0.34122	eRF1 domain 1/Pelota-like (1);	0.072305	0.56097	U	0.000032	T	0.29556	0.0737	N	0.12853	0.265	0.39065	D	0.960595	B	0.17667	0.023	B	0.26310	0.068	T	0.06972	-1.0797	10	0.33940	T	0.23	-19.2149	10.4935	0.44764	0.2111:0.0:0.7889:0.0	.	92	Q9BRX2	PELO_HUMAN	D	92	ENSP00000274311:E92D	ENSP00000274311:E92D	E	+	3	2	PELO	52132261	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.903000	0.48711	0.343000	0.23821	0.563000	0.77884	GAG		0.587	PELO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214040.1	NM_015946		15	14	1	0	1.15088e-07	1	1.20771e-07	15	14					T	52096504	G	T	52096504	3	4	435	1	0	0	0	0	1	0	0	0	11724	1020	36	5	278	5	PELO	5	52096504	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	1958637	52096504	128818756	2653	23578											
PELO	53918	broad.mit.edu	37	chr5	52096778	52096778	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agcatgaccgggccttggagCggttctatgaacaggtggtc	8	9	15	9	2	1	2	0	2	1	0	2	3	1	3	2	5	3	2	2	5	2	3	rs571174898		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:52096778C>T	ENST00000274311.2	+	2	1535	c.550C>T	c.(550-552)Cgg>Tgg	p.R184W	ITGA1_ENST00000504086.1_Intron|ITGA1_ENST00000282588.6_Intron|PELO_ENST00000506949.1_Intron	NM_015946.4	NP_057030.3	Q9BRX2	PELO_HUMAN	pelota homolog (Drosophila)	184					cell cycle (GO:0007049)|cell division (GO:0051301)|cell proliferation (GO:0008283)|chromosome organization (GO:0051276)|nuclear-transcribed mRNA catabolic process, no-go decay (GO:0070966)|nuclear-transcribed mRNA catabolic process, non-stop decay (GO:0070481)|RNA surveillance (GO:0071025)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)	11		Lung NSC(810;4.94e-05)|Breast(144;0.0848)				GGCCTTGGAGCGGTTCTATGA	0.542																																						ENST00000274311.2																			0				breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)	11						c.(550-552)Cgg>Tgg		pelota homolog (Drosophila)							99	91	94					5																	52096778		2203	4300	6503	SO:0001583	missense	53918				cell cycle|cell division|translation	cytoplasm|nucleus	endonuclease activity|metal ion binding|protein binding	g.chr5:52096778C>T		CCDS3956.1	5q11.2	2008-07-18	2001-11-28		ENSG00000152684	ENSG00000152684			8829	protein-coding gene	gene with protein product		605757	"pelota (Drosophila) homolog"			11060452	Standard	NM_015946		Approved		uc003jos.3	Q9BRX2	OTTHUMG00000096973	ENST00000274311.2:c.550C>T	5.37:g.52096778C>T	ENSP00000274311:p.Arg184Trp					ITGA1_ENST00000282588.6_Intron|PELO_ENST00000506949.1_Intron|ITGA1_ENST00000504086.1_Intron	p.R184W	NM_015946.4	NP_057030.3	Q9BRX2	PELO_HUMAN			2	1535	+		Lung NSC(810;4.94e-05)|Breast(144;0.0848)	184					Q9GZS6|Q9Y306	Missense_Mutation	SNP	ENST00000274311.2	37	c.550C>T	CCDS3956.1	.	.	.	.	.	.	.	.	.	.	C	16.93	3.258025	0.59321	.	.	ENSG00000152684	ENST00000274311	T	0.44482	0.92	5.25	4.36	0.52297	eRF1 domain 2 (1);	0.146455	0.42964	U	0.000629	T	0.65903	0.2736	M	0.87456	2.885	0.51012	D	0.999901	D	0.76494	0.999	D	0.67548	0.952	T	0.72017	-0.4417	10	0.66056	D	0.02	-11.4719	12.1195	0.53883	0.3098:0.6902:0.0:0.0	.	184	Q9BRX2	PELO_HUMAN	W	184	ENSP00000274311:R184W	ENSP00000274311:R184W	R	+	1	2	PELO	52132535	0.998000	0.40836	1.000000	0.80357	0.996000	0.88848	0.773000	0.26661	1.409000	0.46915	0.563000	0.77884	CGG		0.542	PELO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214040.1	NM_015946		16	35	0	0	0	1	0	16	35					T	52096778	C	T	52096778	3	4	435	1	0	0	0	0	1	0	0	0	11724	759	27	1	552	1	PELO	5	52096778	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	274	52096778	128818482	2654	23579											
ITGA1	3672	broad.mit.edu	37	chr5	52201708	52201708	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aggatggaagatggaaacatCaaaattctccagacgctcag	16	7	10	8	1	3	2	2	0	1	2	4	5	3	5	1	3	1	1	1	3	4	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:52201708C>T	ENST00000282588.6	+	12	1883	c.1425C>T	c.(1423-1425)atC>atT	p.I475I		NM_181501.1	NP_852478.1	P56199	ITA1_HUMAN	integrin, alpha 1	475					activation of MAPK activity (GO:0000187)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|cellular extravasation (GO:0045123)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|muscle contraction (GO:0006936)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|neutrophil chemotaxis (GO:0030593)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|vasodilation (GO:0042311)	acrosomal vesicle (GO:0001669)|basal part of cell (GO:0045178)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integrin alpha1-beta1 complex (GO:0034665)|integrin complex (GO:0008305)|membrane (GO:0016020)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)	collagen binding (GO:0005518)|collagen binding involved in cell-matrix adhesion (GO:0098639)|metal ion binding (GO:0046872)|protein phosphatase binding (GO:0019903)			NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(19)|ovary(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Lung NSC(810;5.05e-05)|Breast(144;0.0851)				ATGGAAACATCAAAATTCTCC	0.368																																						ENST00000282588.6																			0				NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(19)|ovary(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						c.(1423-1425)atC>atT		integrin, alpha 1							113	111	112					5																	52201708		2203	4300	6503	SO:0001819	synonymous_variant	3672				axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|muscle contraction	integrin complex	collagen binding|receptor activity	g.chr5:52201708C>T	X68742	CCDS3955.1	5q11.1	2010-03-23			ENSG00000213949	ENSG00000213949		"CD molecules", "Integrins"	6134	protein-coding gene	gene with protein product		192968				8428973, 11937138	Standard	NM_181501		Approved	VLA1, CD49a	uc003jou.3	P56199	OTTHUMG00000131163	ENST00000282588.6:c.1425C>T	5.37:g.52201708C>T							p.I475I	NM_181501.1	NP_852478.1	P56199	ITA1_HUMAN			12	1883	+		Lung NSC(810;5.05e-05)|Breast(144;0.0851)	475					B2RNU0	Silent	SNP	ENST00000282588.6	37	c.1425C>T	CCDS3955.1																																																																																				0.368	ITGA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253855.3	NM_181501		52	85	0	0	0	1	0	52	85					T	52201708	C	T	52201708	2	4	435	1	0	0	0	0	0	0	0	1	7872	816	29	3		3	ITGA1	5	52201708	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	104930	52201708	128713552	2655	23580											
ITGA1	3672	broad.mit.edu	37	chr5	52206155	52206155	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caatcttgatggatttaatgAcatcgtgataggagctccgc	11	12	10	8	2	1	3	0	3	1	0	3	5	2	5	1	2	1	1	1	2	3	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:52206155A>G	ENST00000282588.6	+	14	2221	c.1763A>G	c.(1762-1764)gAc>gGc	p.D588G		NM_181501.1	NP_852478.1	P56199	ITA1_HUMAN	integrin, alpha 1	588					activation of MAPK activity (GO:0000187)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|cellular extravasation (GO:0045123)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|muscle contraction (GO:0006936)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|neutrophil chemotaxis (GO:0030593)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|vasodilation (GO:0042311)	acrosomal vesicle (GO:0001669)|basal part of cell (GO:0045178)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integrin alpha1-beta1 complex (GO:0034665)|integrin complex (GO:0008305)|membrane (GO:0016020)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)	collagen binding (GO:0005518)|collagen binding involved in cell-matrix adhesion (GO:0098639)|metal ion binding (GO:0046872)|protein phosphatase binding (GO:0019903)			NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(19)|ovary(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Lung NSC(810;5.05e-05)|Breast(144;0.0851)				GGATTTAATGACATCGTGATA	0.433																																						ENST00000282588.6																			0				NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(19)|ovary(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						c.(1762-1764)gAc>gGc		integrin, alpha 1							88	89	89					5																	52206155		2203	4300	6503	SO:0001583	missense	3672				axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|muscle contraction	integrin complex	collagen binding|receptor activity	g.chr5:52206155A>G	X68742	CCDS3955.1	5q11.1	2010-03-23			ENSG00000213949	ENSG00000213949		"CD molecules", "Integrins"	6134	protein-coding gene	gene with protein product		192968				8428973, 11937138	Standard	NM_181501		Approved	VLA1, CD49a	uc003jou.3	P56199	OTTHUMG00000131163	ENST00000282588.6:c.1763A>G	5.37:g.52206155A>G	ENSP00000282588:p.Asp588Gly						p.D588G	NM_181501.1	NP_852478.1	P56199	ITA1_HUMAN			14	2221	+		Lung NSC(810;5.05e-05)|Breast(144;0.0851)	588					B2RNU0	Missense_Mutation	SNP	ENST00000282588.6	37	c.1763A>G	CCDS3955.1	.	.	.	.	.	.	.	.	.	.	A	27.9	4.874658	0.91664	.	.	ENSG00000213949	ENST00000282588	D	0.96011	-3.88	6.02	6.02	0.97574	.	0.000000	0.85682	D	0.000000	D	0.98701	0.9564	H	0.97829	4.085	0.80722	D	1	D	0.69078	0.997	D	0.79108	0.992	D	0.99683	1.0999	10	0.87932	D	0	.	16.5494	0.84464	1.0:0.0:0.0:0.0	.	588	P56199	ITA1_HUMAN	G	588	ENSP00000282588:D588G	ENSP00000282588:D588G	D	+	2	0	ITGA1	52241912	1.000000	0.71417	0.997000	0.53966	0.997000	0.91878	8.860000	0.92272	2.299000	0.77371	0.528000	0.53228	GAC		0.433	ITGA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253855.3	NM_181501		14	21	0	0	0	1	0	14	21					G	52206155	A	G	52206155	3	3	435	1	0	0	0	0	1	0	0	0	7872	275	10	4	1817	4	ITGA1	5	52206155	Missense_Mutation	SNP	A	TCGA-XK-AAIW-01A-11D-A41K-08	4447	52206155	128709105	2656	23581											
ITGA2	3673	broad.mit.edu	37	chr5	52344197	52344197	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctcatttctttgaagacatGtggtcctctgtgggcacagc	7	14	10	10	0	3	2	1	1	3	1	5	2	4	2	1	2	1	1	1	2	1	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:52344197G>A	ENST00000296585.5	+	5	535	c.392G>A	c.(391-393)tGt>tAt	p.C131Y		NM_002203.3	NP_002194.2	P17301	ITA2_HUMAN	integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor)	131					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell adhesion mediated by integrin (GO:0033627)|cell proliferation (GO:0008283)|cell-matrix adhesion (GO:0007160)|cell-substrate adhesion (GO:0031589)|cellular response to hormone stimulus (GO:0032870)|collagen-activated signaling pathway (GO:0038065)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|hepatocyte differentiation (GO:0070365)|hypotonic response (GO:0006971)|integrin-mediated signaling pathway (GO:0007229)|mammary gland development (GO:0030879)|mesodermal cell differentiation (GO:0048333)|organ morphogenesis (GO:0009887)|positive regulation of alkaline phosphatase activity (GO:0010694)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell projection organization (GO:0031346)|positive regulation of collagen binding (GO:0033343)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of DNA binding (GO:0043388)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of inflammatory response (GO:0050729)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of phagocytosis, engulfment (GO:0060100)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of smooth muscle cell migration (GO:0014911)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of translation (GO:0045727)|positive regulation of transmission of nerve impulse (GO:0051971)|response to amine (GO:0014075)|response to drug (GO:0042493)|response to hypoxia (GO:0001666)|response to L-ascorbic acid (GO:0033591)|response to muscle activity (GO:0014850)|response to organic cyclic compound (GO:0014070)|skin morphogenesis (GO:0043589)|substrate-dependent cell migration (GO:0006929)|tissue homeostasis (GO:0001894)|viral process (GO:0016032)	axon terminus (GO:0043679)|basal part of cell (GO:0045178)|cell outer membrane (GO:0009279)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|focal adhesion (GO:0005925)|integrin alpha2-beta1 complex (GO:0034666)|integrin complex (GO:0008305)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	collagen binding (GO:0005518)|collagen binding involved in cell-matrix adhesion (GO:0098639)|collagen receptor activity (GO:0038064)|metal ion binding (GO:0046872)|virus receptor activity (GO:0001618)			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(1)|lung(18)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	47		Lung NSC(810;3.11e-05)|Breast(144;0.014)|Prostate(461;0.0181)				TTGAAGACATGTGGTCCTCTG	0.423																																						ENST00000296585.5																			0				breast(3)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(1)|lung(18)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	47						c.(391-393)tGt>tAt		integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor)							133	129	131					5																	52344197		2203	4300	6503	SO:0001583	missense	3673				axon guidance|blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|organ morphogenesis	integrin complex	collagen binding|identical protein binding|receptor activity	g.chr5:52344197G>A		CCDS3957.1	5q11.2	2010-03-23			ENSG00000164171	ENSG00000164171		"CD molecules", "Integrins"	6137	protein-coding gene	gene with protein product		192974		CD49B			Standard	NM_002203		Approved	CD49b	uc003joy.3	P17301	OTTHUMG00000131165	ENST00000296585.5:c.392G>A	5.37:g.52344197G>A	ENSP00000296585:p.Cys131Tyr						p.C131Y	NM_002203.3	NP_002194.2	P17301	ITA2_HUMAN			5	535	+		Lung NSC(810;3.11e-05)|Breast(144;0.014)|Prostate(461;0.0181)	131					Q14595	Missense_Mutation	SNP	ENST00000296585.5	37	c.392G>A	CCDS3957.1	.	.	.	.	.	.	.	.	.	.	G	23.3	4.400286	0.83120	.	.	ENSG00000164171	ENST00000296585	D	0.94330	-3.4	5.35	5.35	0.76521	.	0.000000	0.85682	D	0.000000	D	0.97424	0.9157	M	0.90595	3.13	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.98137	1.0434	10	0.87932	D	0	.	19.0607	0.93091	0.0:0.0:1.0:0.0	.	131;131	E7ESP4;P17301	.;ITA2_HUMAN	Y	131	ENSP00000296585:C131Y	ENSP00000296585:C131Y	C	+	2	0	ITGA2	52379954	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.447000	0.97595	2.487000	0.83934	0.563000	0.77884	TGT		0.423	ITGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253857.2	NM_002203		20	19	0	0	0	1	0	20	19					A	52344197	G	A	52344197	3	1	435	1	0	0	0	0	1	0	0	0	7875	1377	48	3	410	3	ITGA2	5	52344197	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	138042	52344197	128571063	2657	23582											
ESM1	11082	broad.mit.edu	37	chr5	54275236	54275236	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	caacttcttctctcacaataTtgccatctccagatgccatg	10	13	4	14	0	4	1	1	0	3	1	6	1	4	1	3	0	3	0	3	0	3	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:54275236T>A	ENST00000381405.4	-	3	624	c.479A>T	c.(478-480)aAt>aTt	p.N160I	ESM1_ENST00000381403.4_Missense_Mutation_p.N110I|ESM1_ENST00000598310.1_5'UTR	NM_007036.4	NP_008967.1	Q9NQ30	ESM1_HUMAN	endothelial cell-specific molecule 1	160					angiogenesis (GO:0001525)|positive regulation of cell proliferation (GO:0008284)|positive regulation of hepatocyte growth factor receptor signaling pathway (GO:1902204)|regulation of cell growth (GO:0001558)|sprouting angiogenesis (GO:0002040)	extracellular region (GO:0005576)	hepatocyte growth factor receptor binding (GO:0005171)|integrin binding (GO:0005178)			breast(1)|kidney(1)|large_intestine(4)|lung(4)	10		Lung NSC(810;4.08e-05)|Breast(144;0.0433)|Prostate(74;0.116)	Lung(15;0.23)			TCTCACAATATTGCCATCTCC	0.418																																						ENST00000381405.4																			0				breast(1)|kidney(1)|large_intestine(4)|lung(4)	10						c.(478-480)aAt>aTt		endothelial cell-specific molecule 1							133	131	131					5																	54275236		2203	4300	6503	SO:0001583	missense	11082				angiogenesis|regulation of cell growth	extracellular region	growth factor activity|insulin-like growth factor binding	g.chr5:54275236T>A	X89426	CCDS3963.1, CCDS47206.1	5q11	2008-02-05			ENSG00000164283	ENSG00000164283			3466	protein-coding gene	gene with protein product		601521				8702785	Standard	NM_001135604		Approved		uc003jpk.3	Q9NQ30	OTTHUMG00000097010	ENST00000381405.4:c.479A>T	5.37:g.54275236T>A	ENSP00000370812:p.Asn160Ile					ESM1_ENST00000381403.4_Missense_Mutation_p.N110I|ESM1_ENST00000598310.1_5'UTR	p.N160I	NM_007036.4	NP_008967.1	Q9NQ30	ESM1_HUMAN	Lung(15;0.23)		3	624	-		Lung NSC(810;4.08e-05)|Breast(144;0.0433)|Prostate(74;0.116)	160					B2R4G3|Q15330|Q3V4E3|Q96ES3	Missense_Mutation	SNP	ENST00000381405.4	37	c.479A>T	CCDS3963.1	.	.	.	.	.	.	.	.	.	.	T	8.189	0.795499	0.16327	.	.	ENSG00000164283	ENST00000381405;ENST00000381403	.	.	.	5.52	3.12	0.35913	.	0.250143	0.39083	N	0.001466	T	0.29190	0.0726	L	0.29908	0.895	0.29627	N	0.84576	P;P	0.50710	0.624;0.938	B;P	0.45037	0.347;0.467	T	0.15867	-1.0422	9	0.87932	D	0	-11.5605	9.8221	0.40889	0.0:0.14:0.0:0.86	.	110;160	Q3V4E3;Q9NQ30	.;ESM1_HUMAN	I	160;110	.	ENSP00000370810:N110I	N	-	2	0	ESM1	54310993	0.990000	0.36364	0.907000	0.35723	0.011000	0.07611	2.237000	0.43061	0.377000	0.24735	-0.400000	0.06385	AAT		0.418	ESM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214099.2	NM_007036		25	35	0	0	0	1	0	25	35					A	54275236	T	A	54275236	3	1	435	1	0	0	0	0	1	0	0	0	5252	1493	52	5	79	5	ESM1	5	54275236	Missense_Mutation	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	1931039	54275236	126640024	2658	23583											
CDC20B	166979	broad.mit.edu	37	chr5	54439343	54439343	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttttctctttacctacctGcccttttgaggcaacacttt	6	19	4	12	0	1	1	0	1	1	0	2	1	1	1	3	1	4	1	3	1	3	9			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:54439343G>A	ENST00000381375.2	-	4	629	c.484C>T	c.(484-486)Cag>Tag	p.Q162*	CDC20B_ENST00000334206.5_Nonsense_Mutation_p.Q162*|CDC20B_ENST00000331730.3_Nonsense_Mutation_p.Q141*|CDC20B_ENST00000296733.1_Nonsense_Mutation_p.Q162*|CDC20B_ENST00000322374.6_Nonsense_Mutation_p.Q162*			Q86Y33	CD20B_HUMAN	cell division cycle 20B	162										kidney(1)|large_intestine(5)|lung(7)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	19		Lung NSC(810;0.000744)|Breast(144;0.159)|Prostate(74;0.194)	LUSC - Lung squamous cell carcinoma(15;0.225)			TTACCTACCTGCCCTTTTGAG	0.413																																						ENST00000334206.5																			0				kidney(1)|large_intestine(5)|lung(7)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	19						c.(484-486)Cag>Tag		cell division cycle 20B							125	118	120					5																	54439343		2203	4300	6503	SO:0001587	stop_gained	166979							g.chr5:54439343G>A	AB086378	CCDS3966.1, CCDS47207.1, CCDS54852.1	5q11.2	2013-01-17	2013-01-17		ENSG00000164287	ENSG00000164287		"WD repeat domain containing"	24222	protein-coding gene	gene with protein product			"CDC20 cell division cycle 20 homolog B (S. cerevisiae)", "cell division cycle 20 homolog B (S. cerevisiae)"				Standard	NM_152623		Approved	FLJ37927	uc003jpo.2	Q86Y33	OTTHUMG00000131185	ENST00000381375.2:c.484C>T	5.37:g.54439343G>A	ENSP00000370781:p.Gln162*					CDC20B_ENST00000296733.1_Nonsense_Mutation_p.Q162*|CDC20B_ENST00000322374.6_Nonsense_Mutation_p.Q162*|CDC20B_ENST00000381375.2_Nonsense_Mutation_p.Q162*|CDC20B_ENST00000331730.3_Nonsense_Mutation_p.Q141*	p.Q162*			Q86Y33	CD20B_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.225)		4	660	-		Lung NSC(810;0.000744)|Breast(144;0.159)|Prostate(74;0.194)	162					B7WNV8|B9EGL8|C9J6X8|C9JHE9|C9JKL5|Q86Y31|Q86Y32|Q8IUZ8|Q8N1S1|Q8NG56	Nonsense_Mutation	SNP	ENST00000381375.2	37	c.484C>T	CCDS54852.1	.	.	.	.	.	.	.	.	.	.	G	13.16	2.155509	0.38021	.	.	ENSG00000164287	ENST00000334206;ENST00000296733;ENST00000381375;ENST00000322374;ENST00000331730	.	.	.	4.65	4.65	0.58169	.	0.145311	0.32147	N	0.006509	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.16420	T	0.52	-8.3363	13.217	0.59865	0.0:0.0:1.0:0.0	.	.	.	.	X	162;162;162;162;141	.	ENSP00000296733:Q162X	Q	-	1	0	CDC20B	54475100	0.999000	0.42202	1.000000	0.80357	0.135000	0.20990	3.766000	0.55280	2.559000	0.86315	0.655000	0.94253	CAG		0.413	CDC20B-004	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000369715.1	NM_152623		10	44	0	0	0	1	0	10	44					A	54439343	G	A	54439343	4	1	435	1	0	0	0	0	0	1	0	0	3060	1328	46	3	1111	3	CDC20B	5	54439343	Nonsense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	164107	54439343	126475917	2659	23584											
DHX29	54505	broad.mit.edu	37	chr5	54570759	54570759	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaggattcatgtatagaataGcatgctgagtgcggctgctg	10	11	14	6	1	1	2	1	1	0	1	1	4	1	3	0	2	4	5	0	2	4	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:54570759G>A	ENST00000251636.5	-	15	2655	c.2507C>T	c.(2506-2508)gCt>gTt	p.A836V	RP11-506H20.1_ENST00000506435.1_RNA	NM_019030.2	NP_061903.2	Q7Z478	DHX29_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 29	836						eukaryotic 43S preinitiation complex (GO:0016282)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)|ribosomal small subunit binding (GO:0043024)|translation initiation factor activity (GO:0003743)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|lung(6)|ovary(4)|prostate(1)|skin(3)|urinary_tract(2)	46		Lung NSC(810;4.08e-05)|Breast(144;0.0544)|Prostate(74;0.183)				GTATAGAATAGCATGCTGAGT	0.373																																						ENST00000251636.5																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|lung(6)|ovary(4)|prostate(1)|skin(3)|urinary_tract(2)	46						c.(2506-2508)gCt>gTt		DEAH (Asp-Glu-Ala-His) box polypeptide 29							105	109	108					5																	54570759		2203	4300	6503	SO:0001583	missense	54505						ATP binding|ATP-dependent helicase activity|translation initiation factor activity	g.chr5:54570759G>A	AY036974	CCDS34158.1	5q11.2	2008-02-05	2003-06-13	2003-06-20	ENSG00000067248	ENSG00000067248		"DEAH-boxes"	15815	protein-coding gene	gene with protein product		612720	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 29"	DDX29			Standard	XM_005248544		Approved		uc003jpx.3	Q7Z478	OTTHUMG00000162313	ENST00000251636.5:c.2507C>T	5.37:g.54570759G>A	ENSP00000251636:p.Ala836Val					RP11-506H20.1_ENST00000506435.1_RNA	p.A836V	NM_019030.2	NP_061903.2	Q7Z478	DHX29_HUMAN			15	2655	-		Lung NSC(810;4.08e-05)|Breast(144;0.0544)|Prostate(74;0.183)	836					O75549|Q63HN0|Q63HN3|Q8IWW2|Q8N3A1|Q9UMH2	Missense_Mutation	SNP	ENST00000251636.5	37	c.2507C>T	CCDS34158.1	.	.	.	.	.	.	.	.	.	.	G	8.485	0.860626	0.17178	.	.	ENSG00000067248	ENST00000251636	T	0.14144	2.53	5.1	5.1	0.69264	.	0.109676	0.64402	D	0.000007	T	0.13586	0.0329	L	0.38175	1.15	0.52501	D	0.999959	B	0.17038	0.02	B	0.15052	0.012	T	0.09357	-1.0678	10	0.21014	T	0.42	.	18.8847	0.92372	0.0:0.0:1.0:0.0	.	836	Q7Z478	DHX29_HUMAN	V	836	ENSP00000251636:A836V	ENSP00000251636:A836V	A	-	2	0	DHX29	54606516	1.000000	0.71417	0.979000	0.43373	0.992000	0.81027	6.002000	0.70693	2.538000	0.85594	0.563000	0.77884	GCT		0.373	DHX29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368532.1	NM_019030		58	72	0	0	0	1	0	58	72					A	54570759	G	A	54570759	3	1	435	1	0	0	0	0	1	0	0	0	4503	971	34	3	1654	3	DHX29	5	54570759	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	131416	54570759	126344501	2660	23585											
SKIV2L2	23517	broad.mit.edu	37	chr5	54706457	54706457	+	Splice_Site	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctttgtgtttcaagagaaTgtaagttaattgattcagca	12	16	9	4	0	2	2	2	1	0	1	2	3	2	2	0	0	2	5	0	0	4	6			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:54706457T>A	ENST00000230640.5	+	23	3005	c.2751T>A	c.(2749-2751)aaT>aaA	p.N917K	SKIV2L2_ENST00000545714.1_Splice_Site_p.N816K	NM_015360.4	NP_056175.3	P42285	SK2L2_HUMAN	superkiller viralicidic activity 2-like 2 (S. cerevisiae)	917					maturation of 5.8S rRNA (GO:0000460)|mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)			NS(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|lung(12)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Lung NSC(810;0.000744)|Breast(144;0.181)|Prostate(74;0.194)				TTCAAGAGAATGTAAGTTAAT	0.303																																					Melanoma(2;92 134 23744 29976 33782)	ENST00000230640.5																			0				NS(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|lung(12)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						c.e23+1		superkiller viralicidic activity 2-like 2 (S. cerevisiae)							155	139	144					5																	54706457		2203	4300	6503	SO:0001630	splice_region_variant	23517				maturation of 5.8S rRNA	catalytic step 2 spliceosome|nucleolus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding	g.chr5:54706457T>A	D29641	CCDS3967.1	5q11.2	2008-11-25	2005-02-18	2005-02-18	ENSG00000039123	ENSG00000039123			18734	protein-coding gene	gene with protein product	"functional spliceosome-associated protein 118"		"KIAA0052"	KIAA0052			Standard	NM_015360		Approved	Mtr4, Dob1, fSAP118	uc003jpy.4	P42285	OTTHUMG00000097019	ENST00000230640.5:c.2751+1T>A	5.37:g.54706457T>A						SKIV2L2_ENST00000545714.1_Splice_Site_p.N816_splice	p.N917_splice	NM_015360.4	NP_056175.3	P42285	SK2L2_HUMAN			23	3005	+		Lung NSC(810;0.000744)|Breast(144;0.181)|Prostate(74;0.194)	917					Q2M386|Q6MZZ8|Q6P170|Q8N5R0|Q8TAG2	Splice_Site	SNP	ENST00000230640.5	37	c.2751_splice	CCDS3967.1	.	.	.	.	.	.	.	.	.	.	T	3.094	-0.186320	0.06340	.	.	ENSG00000039123	ENST00000230640;ENST00000545714	T;T	0.19532	2.14;2.14	5.1	2.68	0.31781	DSH, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.04137	0.0115	N	0.00317	-1.655	0.58432	D	0.999995	B;B	0.06786	0.001;0.0	B;B	0.09377	0.004;0.001	T	0.40001	-0.9586	10	0.02654	T	1	-10.8767	9.5339	0.39211	0.0:0.1458:0.0:0.8542	.	816;917	F5H7E2;P42285	.;SK2L2_HUMAN	K	917;816	ENSP00000230640:N917K;ENSP00000442583:N816K	ENSP00000230640:N917K	N	+	3	2	SKIV2L2	54742214	1.000000	0.71417	1.000000	0.80357	0.881000	0.50899	1.099000	0.31013	0.353000	0.24079	-0.376000	0.06991	AAT		0.303	SKIV2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214108.1		Missense_Mutation	5	66	0	0	0	1	0	5	66					A	54706457	T	A	54706457	5	1	435	1	0	0	0	0	0	0	1	0	14360	1478	51	5	2841	5	SKIV2L2	5	54706457	Splice_Site	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	135698	54706457	126208803	2661	23586											
IL31RA	133396	broad.mit.edu	37	chr5	55195937	55195937	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtctccagtggccaccctgaGgattccagctattcaagaaa	11	9	9	12	0	2	2	1	1	1	1	4	3	3	3	4	2	1	1	4	2	3	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:55195937G>T	ENST00000447346.2	+	8	1111	c.1046G>T	c.(1045-1047)aGg>aTg	p.R349M	IL31RA_ENST00000396834.1_Missense_Mutation_p.R330M|IL31RA_ENST00000297015.3_Missense_Mutation_p.R207M|IL31RA_ENST00000359040.5_Missense_Mutation_p.R349M|IL31RA_ENST00000396836.2_Missense_Mutation_p.R349M|IL31RA_ENST00000354961.4_Missense_Mutation_p.R330M|IL31RA_ENST00000490985.1_Missense_Mutation_p.R207M	NM_001242636.1|NM_139017.5	NP_001229565.1|NP_620586.3	Q8NI17	IL31R_HUMAN	interleukin 31 receptor A	317	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cytokine-mediated signaling pathway (GO:0019221)|defense response (GO:0006952)|homeostatic process (GO:0042592)|JAK-STAT cascade (GO:0007259)|macrophage differentiation (GO:0030225)|MAPK cascade (GO:0000165)|monocyte differentiation (GO:0030224)|negative regulation of apoptotic process (GO:0043066)|negative regulation of macrophage activation (GO:0043031)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cytokine binding (GO:0019955)|cytokine receptor activity (GO:0004896)|protein kinase binding (GO:0019901)|transcription coactivator activity (GO:0003713)			endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|stomach(1)	21		Lung NSC(810;6.93e-05)|Prostate(74;0.00741)|Breast(144;0.0544)|Ovarian(174;0.223)				GCCACCCTGAGGATTCCAGCT	0.478																																						ENST00000396834.1																			0				endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|stomach(1)	21						c.(988-990)aGg>aTg		interleukin 31 receptor A							102	112	109					5																	55195937		2203	4300	6503	SO:0001583	missense	133396				anti-apoptosis|defense response|homeostatic process|JAK-STAT cascade|macrophage differentiation|MAPKKK cascade|monocyte differentiation|negative regulation of macrophage activation|positive regulation of cell proliferation|positive regulation of transcription, DNA-dependent|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|transmembrane receptor protein tyrosine kinase signaling pathway	integral to membrane|plasma membrane	cytokine receptor activity|protein kinase binding|transcription coactivator activity	g.chr5:55195937G>T	AY499339	CCDS3970.2, CCDS56365.1, CCDS56366.1, CCDS56367.1, CCDS75244.1, CCDS75245.1	5q11.2	2013-02-11			ENSG00000164509	ENSG00000164509		"Interleukins and interleukin receptors", "Fibronectin type III domain containing"	18969	protein-coding gene	gene with protein product		609510				15184896, 11877449	Standard	NM_139017		Approved	CRL3, GLM-R, CRL, Glmr, IL-31RA	uc003jql.3	Q8NI17	OTTHUMG00000097045	ENST00000447346.2:c.1046G>T	5.37:g.55195937G>T	ENSP00000415900:p.Arg349Met					IL31RA_ENST00000396836.2_Missense_Mutation_p.R349M|IL31RA_ENST00000354961.4_Missense_Mutation_p.R330M|IL31RA_ENST00000359040.5_Missense_Mutation_p.R349M|IL31RA_ENST00000297015.3_Missense_Mutation_p.R207M|IL31RA_ENST00000490985.1_Missense_Mutation_p.R207M|IL31RA_ENST00000447346.2_Missense_Mutation_p.R349M	p.R330M	NM_001242638.1	NP_001229567.1	Q8NI17	IL31R_HUMAN			10	1485	+		Lung NSC(810;6.93e-05)|Prostate(74;0.00741)|Breast(144;0.0544)|Ovarian(174;0.223)	317			Fibronectin type-III 4.		A6NIF8|Q2TBA1|Q6EBC3|Q6EBC4|Q6EBC5|Q6EBC6|Q6UWL8|Q8WYJ0	Missense_Mutation	SNP	ENST00000447346.2	37	c.989G>T	CCDS3970.2	.	.	.	.	.	.	.	.	.	.	G	15.02	2.708275	0.48412	.	.	ENSG00000164509	ENST00000396836;ENST00000396834;ENST00000447346;ENST00000359040;ENST00000297015;ENST00000490985;ENST00000354961	T;T;T;T;T;T;T	0.45668	1.44;1.13;1.11;1.13;1.23;0.89;1.13	4.41	4.41	0.53225	.	0.424220	0.27891	N	0.017437	T	0.61400	0.2344	M	0.67953	2.075	0.40705	D	0.982515	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.994;0.999;0.998;0.999;0.997	T	0.63111	-0.6710	10	0.46703	T	0.11	-11.6175	14.3622	0.66779	0.0:0.0:1.0:0.0	.	317;349;330;349;349	Q8NI17;Q8NI17-5;Q8NI17-3;Q8NI17-2;Q8NI17-8	IL31R_HUMAN;.;.;.;.	M	349;330;349;349;207;207;330	ENSP00000380048:R349M;ENSP00000380046:R330M;ENSP00000415900:R349M;ENSP00000351935:R349M;ENSP00000297015:R207M;ENSP00000427533:R207M;ENSP00000347047:R330M	ENSP00000297015:R207M	R	+	2	0	IL31RA	55231694	1.000000	0.71417	1.000000	0.80357	0.292000	0.27327	5.191000	0.65110	2.445000	0.82738	0.655000	0.94253	AGG		0.478	IL31RA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214148.1	NM_139017		33	56	1	0	6.53348e-20	1	7.23485e-20	33	56					T	55195937	G	T	55195937	3	4	435	1	0	0	0	0	1	0	0	0	7691	1000	35	5	1076	5	IL31RA	5	55195937	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	489480	55195937	125719323	2662	23587											
IL31RA	133396	broad.mit.edu	37	chr5	55204233	55204233	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	accaagctgaaggtggaaaaGgattctgtaagcacgcccat	14	7	11	9	1	1	1	0	1	1	0	1	3	1	3	2	3	2	3	2	3	5	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:55204233G>T	ENST00000447346.2	+	11	1560	c.1495G>T	c.(1495-1497)Gga>Tga	p.G499*	IL31RA_ENST00000396834.1_Nonsense_Mutation_p.G480*|IL31RA_ENST00000297015.3_Nonsense_Mutation_p.G357*|IL31RA_ENST00000359040.5_Nonsense_Mutation_p.G499*|IL31RA_ENST00000396836.2_Nonsense_Mutation_p.G499*|IL31RA_ENST00000354961.4_Nonsense_Mutation_p.G480*|IL31RA_ENST00000490985.1_Nonsense_Mutation_p.G357*	NM_001242636.1|NM_139017.5	NP_001229565.1|NP_620586.3	Q8NI17	IL31R_HUMAN	interleukin 31 receptor A	467	Fibronectin type-III 5. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cytokine-mediated signaling pathway (GO:0019221)|defense response (GO:0006952)|homeostatic process (GO:0042592)|JAK-STAT cascade (GO:0007259)|macrophage differentiation (GO:0030225)|MAPK cascade (GO:0000165)|monocyte differentiation (GO:0030224)|negative regulation of apoptotic process (GO:0043066)|negative regulation of macrophage activation (GO:0043031)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cytokine binding (GO:0019955)|cytokine receptor activity (GO:0004896)|protein kinase binding (GO:0019901)|transcription coactivator activity (GO:0003713)			endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|stomach(1)	21		Lung NSC(810;6.93e-05)|Prostate(74;0.00741)|Breast(144;0.0544)|Ovarian(174;0.223)				AGGTGGAAAAGGATTCTGTAA	0.478																																						ENST00000396834.1																			0				endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|stomach(1)	21						c.(1438-1440)Gga>Tga		interleukin 31 receptor A							129	110	116					5																	55204233		2203	4300	6503	SO:0001587	stop_gained	133396				anti-apoptosis|defense response|homeostatic process|JAK-STAT cascade|macrophage differentiation|MAPKKK cascade|monocyte differentiation|negative regulation of macrophage activation|positive regulation of cell proliferation|positive regulation of transcription, DNA-dependent|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|transmembrane receptor protein tyrosine kinase signaling pathway	integral to membrane|plasma membrane	cytokine receptor activity|protein kinase binding|transcription coactivator activity	g.chr5:55204233G>T	AY499339	CCDS3970.2, CCDS56365.1, CCDS56366.1, CCDS56367.1, CCDS75244.1, CCDS75245.1	5q11.2	2013-02-11			ENSG00000164509	ENSG00000164509		"Interleukins and interleukin receptors", "Fibronectin type III domain containing"	18969	protein-coding gene	gene with protein product		609510				15184896, 11877449	Standard	NM_139017		Approved	CRL3, GLM-R, CRL, Glmr, IL-31RA	uc003jql.3	Q8NI17	OTTHUMG00000097045	ENST00000447346.2:c.1495G>T	5.37:g.55204233G>T	ENSP00000415900:p.Gly499*					IL31RA_ENST00000396836.2_Nonsense_Mutation_p.G499*|IL31RA_ENST00000354961.4_Nonsense_Mutation_p.G480*|IL31RA_ENST00000359040.5_Nonsense_Mutation_p.G499*|IL31RA_ENST00000297015.3_Nonsense_Mutation_p.G357*|IL31RA_ENST00000490985.1_Nonsense_Mutation_p.G357*|IL31RA_ENST00000447346.2_Nonsense_Mutation_p.G499*	p.G480*	NM_001242638.1	NP_001229567.1	Q8NI17	IL31R_HUMAN			13	1934	+		Lung NSC(810;6.93e-05)|Prostate(74;0.00741)|Breast(144;0.0544)|Ovarian(174;0.223)	467			Fibronectin type-III 5.		A6NIF8|Q2TBA1|Q6EBC3|Q6EBC4|Q6EBC5|Q6EBC6|Q6UWL8|Q8WYJ0	Nonsense_Mutation	SNP	ENST00000447346.2	37	c.1438G>T	CCDS3970.2	.	.	.	.	.	.	.	.	.	.	G	36	5.864452	0.97043	.	.	ENSG00000164509	ENST00000396836;ENST00000396834;ENST00000447346;ENST00000359040;ENST00000297015;ENST00000490985;ENST00000354961	.	.	.	6.08	4.29	0.51040	.	0.386133	0.28828	N	0.014005	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.37606	T	0.19	-26.2949	10.9008	0.47051	0.1496:0.0:0.8504:0.0	.	.	.	.	X	499;480;499;499;357;357;480	.	ENSP00000297015:G357X	G	+	1	0	IL31RA	55239990	1.000000	0.71417	0.966000	0.40874	0.881000	0.50899	2.307000	0.43682	0.884000	0.36064	0.655000	0.94253	GGA		0.478	IL31RA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214148.1	NM_139017		18	29	1	0	2.94398e-08	1	3.10271e-08	18	29					T	55204233	G	T	55204233	4	4	435	1	0	0	0	0	0	1	0	0	7691	1001	35	5	1537	5	IL31RA	5	55204233	Nonsense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	8296	55204233	125711027	2663	23588											
MAP3K1	4214	broad.mit.edu	37	chr5	56171129	56171129	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgtctacaaagtgtacgttGctgctttagtaagtagcttt	9	16	9	7	1	1	0	0	0	1	0	1	0	1	0	0	0	5	7	0	0	6	8			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:56171129G>A	ENST00000399503.3	+	10	1957	c.1957G>A	c.(1957-1959)Gct>Act	p.A653T		NM_005921.1	NP_005912.1	Q13233	M3K1_HUMAN	mitogen-activated protein kinase kinase kinase 1, E3 ubiquitin protein ligase	653					activation of MAPKK activity (GO:0000186)|apoptotic mitochondrial changes (GO:0008637)|cellular response to mechanical stimulus (GO:0071260)|epithelial cell morphogenesis (GO:0003382)|eyelid development in camera-type eye (GO:0061029)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of actin filament polymerization (GO:0030838)|protein phosphorylation (GO:0006468)|regulation of cell migration (GO:0030334)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	cytosol (GO:0005829)	ATP binding (GO:0005524)|JUN kinase kinase activity (GO:0008545)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|zinc ion binding (GO:0008270)			NS(1)|breast(19)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(11)|ovary(1)|skin(3)|urinary_tract(1)	57		Lung NSC(810;4.65e-05)|Prostate(74;0.0132)|Breast(144;0.0321)|Ovarian(174;0.223)		OV - Ovarian serous cystadenocarcinoma(10;6.08e-40)		AGTGTACGTTGCTGCTTTAGT	0.423																																						ENST00000399503.3																			0				NS(1)|breast(19)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(11)|ovary(1)|skin(3)|urinary_tract(1)	57						c.(1957-1959)Gct>Act		mitogen-activated protein kinase kinase kinase 1, E3 ubiquitin protein ligase							71	76	74					5																	56171129		2063	4218	6281	SO:0001583	missense	4214				cellular response to mechanical stimulus|innate immune response|MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol	ATP binding|zinc ion binding	g.chr5:56171129G>A	U29671, AF042838	CCDS43318.1	5q11.2	2012-02-23	2012-02-23		ENSG00000095015	ENSG00000095015		"Mitogen-activated protein kinase cascade / Kinase kinase kinases"	6848	protein-coding gene	gene with protein product		600982	"mitogen-activated protein kinase kinase kinase 1"	MEKK1		8597633	Standard	NM_005921		Approved	MEKK, MAPKKK1	uc003jqw.4	Q13233	OTTHUMG00000059486	ENST00000399503.3:c.1957G>A	5.37:g.56171129G>A	ENSP00000382423:p.Ala653Thr						p.A653T	NM_005921.1	NP_005912.1	Q13233	M3K1_HUMAN		OV - Ovarian serous cystadenocarcinoma(10;6.08e-40)	10	1957	+		Lung NSC(810;4.65e-05)|Prostate(74;0.0132)|Breast(144;0.0321)|Ovarian(174;0.223)	653						Missense_Mutation	SNP	ENST00000399503.3	37	c.1957G>A	CCDS43318.1	.	.	.	.	.	.	.	.	.	.	G	18.53	3.644546	0.67358	.	.	ENSG00000095015	ENST00000399503	T	0.67865	-0.29	5.79	5.79	0.91817	.	0.000000	0.85682	D	0.000000	T	0.76586	0.4008	L	0.41710	1.295	0.80722	D	1	D	0.69078	0.997	D	0.77004	0.989	T	0.72030	-0.4413	10	0.31617	T	0.26	.	20.0417	0.97594	0.0:0.0:1.0:0.0	.	653	Q13233	M3K1_HUMAN	T	653	ENSP00000382423:A653T	ENSP00000382423:A653T	A	+	1	0	MAP3K1	56206886	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.441000	0.90313	2.736000	0.93811	0.655000	0.94253	GCT		0.423	MAP3K1-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000132309.2	XM_042066		8	32	0	0	0	1	0	8	32					A	56171129	G	A	56171129	3	1	435	1	0	0	0	0	1	0	0	0	9243	1319	46	3	1995	3	MAP3K1	5	56171129	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	966896	56171129	124744131	2664	23589											
MAP3K1	4214	broad.mit.edu	37	chr5	56176631	56176631	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agagaaatactaaaagctggTaataacttttcacttaaaag	19	11	6	5	0	1	1	1	0	0	1	1	2	1	1	0	1	3	2	0	1	8	7			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:56176631T>C	ENST00000399503.3	+	12	2179		c.e12+2			NM_005921.1	NP_005912.1	Q13233	M3K1_HUMAN	mitogen-activated protein kinase kinase kinase 1, E3 ubiquitin protein ligase						activation of MAPKK activity (GO:0000186)|apoptotic mitochondrial changes (GO:0008637)|cellular response to mechanical stimulus (GO:0071260)|epithelial cell morphogenesis (GO:0003382)|eyelid development in camera-type eye (GO:0061029)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of actin filament polymerization (GO:0030838)|protein phosphorylation (GO:0006468)|regulation of cell migration (GO:0030334)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	cytosol (GO:0005829)	ATP binding (GO:0005524)|JUN kinase kinase activity (GO:0008545)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|zinc ion binding (GO:0008270)			NS(1)|breast(19)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(11)|ovary(1)|skin(3)|urinary_tract(1)	57		Lung NSC(810;4.65e-05)|Prostate(74;0.0132)|Breast(144;0.0321)|Ovarian(174;0.223)		OV - Ovarian serous cystadenocarcinoma(10;6.08e-40)		TAAAAGCTGGTAATAACTTTT	0.398																																						ENST00000399503.3																			0				NS(1)|breast(19)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(11)|ovary(1)|skin(3)|urinary_tract(1)	57						c.e12+2		mitogen-activated protein kinase kinase kinase 1, E3 ubiquitin protein ligase							72	66	68					5																	56176631		1862	4099	5961	SO:0001630	splice_region_variant	4214				cellular response to mechanical stimulus|innate immune response|MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol	ATP binding|zinc ion binding	g.chr5:56176631T>C	U29671, AF042838	CCDS43318.1	5q11.2	2012-02-23	2012-02-23		ENSG00000095015	ENSG00000095015		"Mitogen-activated protein kinase cascade / Kinase kinase kinases"	6848	protein-coding gene	gene with protein product		600982	"mitogen-activated protein kinase kinase kinase 1"	MEKK1		8597633	Standard	NM_005921		Approved	MEKK, MAPKKK1	uc003jqw.4	Q13233	OTTHUMG00000059486	ENST00000399503.3:c.2179+2T>C	5.37:g.56176631T>C								NM_005921.1	NP_005912.1	Q13233	M3K1_HUMAN		OV - Ovarian serous cystadenocarcinoma(10;6.08e-40)	12	2179	+		Lung NSC(810;4.65e-05)|Prostate(74;0.0132)|Breast(144;0.0321)|Ovarian(174;0.223)							Splice_Site	SNP	ENST00000399503.3	37		CCDS43318.1	.	.	.	.	.	.	.	.	.	.	T	24.8	4.568144	0.86439	.	.	ENSG00000095015	ENST00000399503	.	.	.	5.87	5.87	0.94306	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.5764	0.84681	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	MAP3K1	56212388	1.000000	0.71417	1.000000	0.80357	0.921000	0.55340	6.586000	0.74067	2.371000	0.80710	0.533000	0.62120	.		0.398	MAP3K1-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000132309.2	XM_042066	Intron	8	42	0	0	0	1	0	8	42					C	56176631	T	C	56176631	5	2	435	1	0	0	0	0	0	0	1	0	9243	1652	57	4	2227	4	MAP3K1	5	56176631	Splice_Site	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	5502	56176631	124738629	2665	23590											
MAP3K1	4214	broad.mit.edu	37	chr5	56177976	56177976	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caattaatgtttccagccttGtcaaccccttcttcttctac	8	16	3	14	0	4	0	1	0	3	0	5	0	5	0	4	0	3	1	4	0	4	7			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:56177976G>A	ENST00000399503.3	+	14	2949	c.2949G>A	c.(2947-2949)ttG>ttA	p.L983L		NM_005921.1	NP_005912.1	Q13233	M3K1_HUMAN	mitogen-activated protein kinase kinase kinase 1, E3 ubiquitin protein ligase	983					activation of MAPKK activity (GO:0000186)|apoptotic mitochondrial changes (GO:0008637)|cellular response to mechanical stimulus (GO:0071260)|epithelial cell morphogenesis (GO:0003382)|eyelid development in camera-type eye (GO:0061029)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of actin filament polymerization (GO:0030838)|protein phosphorylation (GO:0006468)|regulation of cell migration (GO:0030334)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	cytosol (GO:0005829)	ATP binding (GO:0005524)|JUN kinase kinase activity (GO:0008545)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|zinc ion binding (GO:0008270)			NS(1)|breast(19)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(11)|ovary(1)|skin(3)|urinary_tract(1)	57		Lung NSC(810;4.65e-05)|Prostate(74;0.0132)|Breast(144;0.0321)|Ovarian(174;0.223)		OV - Ovarian serous cystadenocarcinoma(10;6.08e-40)		TTCCAGCCTTGTCAACCCCTT	0.458																																						ENST00000399503.3																			0				NS(1)|breast(19)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(11)|ovary(1)|skin(3)|urinary_tract(1)	57						c.(2947-2949)ttG>ttA		mitogen-activated protein kinase kinase kinase 1, E3 ubiquitin protein ligase							127	124	125					5																	56177976		1903	4125	6028	SO:0001819	synonymous_variant	4214				cellular response to mechanical stimulus|innate immune response|MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol	ATP binding|zinc ion binding	g.chr5:56177976G>A	U29671, AF042838	CCDS43318.1	5q11.2	2012-02-23	2012-02-23		ENSG00000095015	ENSG00000095015		"Mitogen-activated protein kinase cascade / Kinase kinase kinases"	6848	protein-coding gene	gene with protein product		600982	"mitogen-activated protein kinase kinase kinase 1"	MEKK1		8597633	Standard	NM_005921		Approved	MEKK, MAPKKK1	uc003jqw.4	Q13233	OTTHUMG00000059486	ENST00000399503.3:c.2949G>A	5.37:g.56177976G>A							p.L983L	NM_005921.1	NP_005912.1	Q13233	M3K1_HUMAN		OV - Ovarian serous cystadenocarcinoma(10;6.08e-40)	14	2949	+		Lung NSC(810;4.65e-05)|Prostate(74;0.0132)|Breast(144;0.0321)|Ovarian(174;0.223)	983						Silent	SNP	ENST00000399503.3	37	c.2949G>A	CCDS43318.1																																																																																				0.458	MAP3K1-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000132309.2	XM_042066		28	28	0	0	0	1	0	28	28					A	56177976	G	A	56177976	2	1	435	1	0	0	0	0	0	0	0	1	9243	1368	48	3		3	MAP3K1	5	56177976	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	1345	56177976	124737284	2666	23591											
MAP3K1	4214	broad.mit.edu	37	chr5	56183331	56183331	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acaattactggggacaattgCatttatggcacctgaggtga	12	11	11	7	0	0	2	0	2	0	0	0	3	0	3	1	4	2	2	1	4	4	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:56183331C>T	ENST00000399503.3	+	18	4241	c.4241C>T	c.(4240-4242)gCa>gTa	p.A1414V		NM_005921.1	NP_005912.1	Q13233	M3K1_HUMAN	mitogen-activated protein kinase kinase kinase 1, E3 ubiquitin protein ligase	1414	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPKK activity (GO:0000186)|apoptotic mitochondrial changes (GO:0008637)|cellular response to mechanical stimulus (GO:0071260)|epithelial cell morphogenesis (GO:0003382)|eyelid development in camera-type eye (GO:0061029)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of actin filament polymerization (GO:0030838)|protein phosphorylation (GO:0006468)|regulation of cell migration (GO:0030334)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	cytosol (GO:0005829)	ATP binding (GO:0005524)|JUN kinase kinase activity (GO:0008545)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|zinc ion binding (GO:0008270)			NS(1)|breast(19)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(11)|ovary(1)|skin(3)|urinary_tract(1)	57		Lung NSC(810;4.65e-05)|Prostate(74;0.0132)|Breast(144;0.0321)|Ovarian(174;0.223)		OV - Ovarian serous cystadenocarcinoma(10;6.08e-40)		GGGACAATTGCATTTATGGCA	0.418																																						ENST00000399503.3																			0				NS(1)|breast(19)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(11)|ovary(1)|skin(3)|urinary_tract(1)	57						c.(4240-4242)gCa>gTa		mitogen-activated protein kinase kinase kinase 1, E3 ubiquitin protein ligase							223	199	207					5																	56183331		1893	4120	6013	SO:0001583	missense	4214				cellular response to mechanical stimulus|innate immune response|MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol	ATP binding|zinc ion binding	g.chr5:56183331C>T	U29671, AF042838	CCDS43318.1	5q11.2	2012-02-23	2012-02-23		ENSG00000095015	ENSG00000095015		"Mitogen-activated protein kinase cascade / Kinase kinase kinases"	6848	protein-coding gene	gene with protein product		600982	"mitogen-activated protein kinase kinase kinase 1"	MEKK1		8597633	Standard	NM_005921		Approved	MEKK, MAPKKK1	uc003jqw.4	Q13233	OTTHUMG00000059486	ENST00000399503.3:c.4241C>T	5.37:g.56183331C>T	ENSP00000382423:p.Ala1414Val						p.A1414V	NM_005921.1	NP_005912.1	Q13233	M3K1_HUMAN		OV - Ovarian serous cystadenocarcinoma(10;6.08e-40)	18	4241	+		Lung NSC(810;4.65e-05)|Prostate(74;0.0132)|Breast(144;0.0321)|Ovarian(174;0.223)	1414			Protein kinase.			Missense_Mutation	SNP	ENST00000399503.3	37	c.4241C>T	CCDS43318.1	.	.	.	.	.	.	.	.	.	.	C	28.9	4.956911	0.92726	.	.	ENSG00000095015	ENST00000399503	T	0.65916	-0.18	5.68	5.68	0.88126	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.67988	0.2952	N	0.20574	0.59	0.80722	D	1	D	0.69078	0.997	D	0.72075	0.976	T	0.65631	-0.6121	10	0.30078	T	0.28	.	19.786	0.96437	0.0:1.0:0.0:0.0	.	1414	Q13233	M3K1_HUMAN	V	1414	ENSP00000382423:A1414V	ENSP00000382423:A1414V	A	+	2	0	MAP3K1	56219088	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	6.597000	0.74118	2.676000	0.91093	0.563000	0.77884	GCA		0.418	MAP3K1-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000132309.2	XM_042066		17	128	0	0	0	1	0	17	128					T	56183331	C	T	56183331	3	4	435	1	0	0	0	0	1	0	0	0	9243	710	25	3	4311	3	MAP3K1	5	56183331	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	5355	56183331	124731929	2667	23592											
ACTBL2	345651	broad.mit.edu	37	chr5	56777946	56777946	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggtggtgaagttatagcctcGctctgtcaggatcttcatga	8	13	12	8	1	4	2	2	2	2	0	5	3	4	3	1	3	1	2	1	3	3	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:56777946G>A	ENST00000423391.1	-	1	690	c.589C>T	c.(589-591)Cga>Tga	p.R197*	CTD-2023N9.1_ENST00000506106.1_RNA|AC025470.1_ENST00000584598.1_RNA	NM_001017992.3	NP_001017992.1	Q562R1	ACTBL_HUMAN	actin, beta-like 2	197						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)			breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(3)|pancreas(1)|prostate(2)	28		Lung NSC(810;0.000135)|Prostate(74;0.055)|Breast(144;0.0707)|Ovarian(174;0.182)		OV - Ovarian serous cystadenocarcinoma(10;4.24e-37)		TTATAGCCTCGCTCTGTCAGG	0.532																																						ENST00000423391.1																			0				breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(3)|pancreas(1)|prostate(2)	28						c.(589-591)Cga>Tga		actin, beta-like 2							100	81	87					5																	56777946		2203	4300	6503	SO:0001587	stop_gained	345651					cytoplasm|cytoskeleton	ATP binding	g.chr5:56777946G>A		CCDS34163.1	5q11.2	2014-08-08			ENSG00000169067	ENSG00000169067			17780	protein-coding gene	gene with protein product		614835					Standard	NM_001017992		Approved	DKFZp686D0972	uc003jrm.3	Q562R1	OTTHUMG00000162330	ENST00000423391.1:c.589C>T	5.37:g.56777946G>A	ENSP00000416706:p.Arg197*					CTD-2023N9.1_ENST00000506106.1_RNA	p.R197*	NM_001017992.3	NP_001017992.1	Q562R1	ACTBL_HUMAN		OV - Ovarian serous cystadenocarcinoma(10;4.24e-37)	1	690	-		Lung NSC(810;0.000135)|Prostate(74;0.055)|Breast(144;0.0707)|Ovarian(174;0.182)	197					B2RPJ1|Q562R2|Q562S9|Q562X8	Nonsense_Mutation	SNP	ENST00000423391.1	37	c.589C>T	CCDS34163.1	.	.	.	.	.	.	.	.	.	.	G	25.8	4.670633	0.88348	.	.	ENSG00000169067	ENST00000423391	.	.	.	4.77	-0.967	0.10316	.	0.094398	0.39083	N	0.001479	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	8.8237	0.35041	0.08:0.0:0.2704:0.6496	.	.	.	.	X	197	.	ENSP00000416706:R197X	R	-	1	2	ACTBL2	56813703	0.419000	0.25449	0.665000	0.29768	0.972000	0.66771	0.185000	0.16958	-0.077000	0.12752	-0.181000	0.13052	CGA		0.532	ACTBL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368579.1	NM_001017992		28	27	0	0	0	1	0	28	27					A	56777946	G	A	56777946	4	1	435	1	0	0	0	0	0	1	0	0	194	1095	38	1	545	1	ACTBL2	5	56777946	Nonsense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	594615	56777946	124137314	2668	23593											
PLK2	10769	broad.mit.edu	37	chr5	57751419	57751419	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttgttgaaaaggacaccgacGgtgtggtctgagagctggta	10	10	15	6	2	1	2	0	2	1	1	1	5	1	3	1	4	1	3	1	4	3	3	rs373697945		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:57751419G>A	ENST00000274289.3	-	11	1872	c.1572C>T	c.(1570-1572)acC>acT	p.T524T	PLK2_ENST00000502671.1_Intron	NM_001252226.1|NM_006622.3	NP_001239155.1|NP_006613.2	Q9NYY3	PLK2_HUMAN	polo-like kinase 2	524	POLO box 1. {ECO:0000255|PROSITE- ProRule:PRU00154}.				G1/S transition of mitotic cell cycle (GO:0000082)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|memory (GO:0007613)|mitotic cell cycle checkpoint (GO:0007093)|mitotic spindle organization (GO:0007052)|negative regulation of apoptotic process (GO:0043066)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|protein phosphorylation (GO:0006468)|Rap protein signal transduction (GO:0032486)|Ras protein signal transduction (GO:0007265)|regulation of centriole replication (GO:0046599)|regulation of synaptic plasticity (GO:0048167)	centriole (GO:0005814)|centrosome (GO:0005813)|dendrite (GO:0030425)|intracellular (GO:0005622)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|signal transducer activity (GO:0004871)			endometrium(7)|large_intestine(7)|lung(5)|ovary(3)|prostate(2)|skin(2)	26		all_cancers(5;1.76e-12)|all_epithelial(5;2.09e-13)|all_lung(5;6.64e-05)|Lung NSC(5;0.000127)|Prostate(74;0.055)|Breast(144;0.0602)|Ovarian(174;0.182)		OV - Ovarian serous cystadenocarcinoma(10;7.03e-37)		GGACACCGACGGTGTGGTCTG	0.448																																						ENST00000274289.3																			0				endometrium(7)|large_intestine(7)|lung(5)|ovary(3)|prostate(2)|skin(2)	26						c.(1570-1572)acC>acT		polo-like kinase 2		G		0,4406		0,0,2203	86	80	82		1572	-11.5	0.1	5		82	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	PLK2	NM_006622.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		524/686	57751419	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	10769				positive regulation of I-kappaB kinase/NF-kappaB cascade		ATP binding|protein binding|protein serine/threonine kinase activity|signal transducer activity	g.chr5:57751419G>A		CCDS3974.1, CCDS75250.1	5q12.1-q13.2	2013-01-18	2010-06-24		ENSG00000145632	ENSG00000145632			19699	protein-coding gene	gene with protein product	"serum-inducible kinase"	607023	"polo-like kinase 2 (Drosophila)"				Standard	NM_006622		Approved	SNK	uc003jrn.3	Q9NYY3	OTTHUMG00000097047	ENST00000274289.3:c.1572C>T	5.37:g.57751419G>A						PLK2_ENST00000502671.1_Intron	p.T524T	NM_001252226.1|NM_006622.3	NP_001239155.1|NP_006613.2	Q9NYY3	PLK2_HUMAN		OV - Ovarian serous cystadenocarcinoma(10;7.03e-37)	11	1872	-		all_cancers(5;1.76e-12)|all_epithelial(5;2.09e-13)|all_lung(5;6.64e-05)|Lung NSC(5;0.000127)|Prostate(74;0.055)|Breast(144;0.0602)|Ovarian(174;0.182)	524			POLO box 1.		O60679|Q96CV7|Q9UE61	Silent	SNP	ENST00000274289.3	37	c.1572C>T	CCDS3974.1																																																																																				0.448	PLK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214150.1	NM_006622		7	30	0	0	0	1	0	7	30					A	57751419	G	A	57751419	2	1	435	1	0	0	0	0	0	0	0	1	12096	1103	39	2		2	PLK2	5	57751419	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	973473	57751419	123163841	2669	23594											
PLK2	10769	broad.mit.edu	37	chr5	57753106	57753106	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	taagtgcttggcaggagccaGcaatgaggacggcattgtat	11	9	14	7	1	0	1	0	1	0	0	0	3	0	3	1	4	3	5	1	4	3	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:57753106G>A	ENST00000274289.3	-	7	1210	c.910C>T	c.(910-912)Ctg>Ttg	p.L304L	PLK2_ENST00000502671.1_5'UTR	NM_001252226.1|NM_006622.3	NP_001239155.1|NP_006613.2	Q9NYY3	PLK2_HUMAN	polo-like kinase 2	304	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				G1/S transition of mitotic cell cycle (GO:0000082)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|memory (GO:0007613)|mitotic cell cycle checkpoint (GO:0007093)|mitotic spindle organization (GO:0007052)|negative regulation of apoptotic process (GO:0043066)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|protein phosphorylation (GO:0006468)|Rap protein signal transduction (GO:0032486)|Ras protein signal transduction (GO:0007265)|regulation of centriole replication (GO:0046599)|regulation of synaptic plasticity (GO:0048167)	centriole (GO:0005814)|centrosome (GO:0005813)|dendrite (GO:0030425)|intracellular (GO:0005622)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|signal transducer activity (GO:0004871)			endometrium(7)|large_intestine(7)|lung(5)|ovary(3)|prostate(2)|skin(2)	26		all_cancers(5;1.76e-12)|all_epithelial(5;2.09e-13)|all_lung(5;6.64e-05)|Lung NSC(5;0.000127)|Prostate(74;0.055)|Breast(144;0.0602)|Ovarian(174;0.182)		OV - Ovarian serous cystadenocarcinoma(10;7.03e-37)		GCAGGAGCCAGCAATGAGGAC	0.428																																						ENST00000274289.3																			0				endometrium(7)|large_intestine(7)|lung(5)|ovary(3)|prostate(2)|skin(2)	26						c.(910-912)Ctg>Ttg		polo-like kinase 2							85	81	83					5																	57753106		2203	4300	6503	SO:0001819	synonymous_variant	10769				positive regulation of I-kappaB kinase/NF-kappaB cascade		ATP binding|protein binding|protein serine/threonine kinase activity|signal transducer activity	g.chr5:57753106G>A		CCDS3974.1, CCDS75250.1	5q12.1-q13.2	2013-01-18	2010-06-24		ENSG00000145632	ENSG00000145632			19699	protein-coding gene	gene with protein product	"serum-inducible kinase"	607023	"polo-like kinase 2 (Drosophila)"				Standard	NM_006622		Approved	SNK	uc003jrn.3	Q9NYY3	OTTHUMG00000097047	ENST00000274289.3:c.910C>T	5.37:g.57753106G>A						PLK2_ENST00000502671.1_5'UTR	p.L304L	NM_001252226.1|NM_006622.3	NP_001239155.1|NP_006613.2	Q9NYY3	PLK2_HUMAN		OV - Ovarian serous cystadenocarcinoma(10;7.03e-37)	7	1210	-		all_cancers(5;1.76e-12)|all_epithelial(5;2.09e-13)|all_lung(5;6.64e-05)|Lung NSC(5;0.000127)|Prostate(74;0.055)|Breast(144;0.0602)|Ovarian(174;0.182)	304			Protein kinase.		O60679|Q96CV7|Q9UE61	Silent	SNP	ENST00000274289.3	37	c.910C>T	CCDS3974.1																																																																																				0.428	PLK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214150.1	NM_006622		21	16	0	0	0	1	0	21	16					A	57753106	G	A	57753106	2	1	435	1	0	0	0	0	0	0	0	1	12096	962	34	3		3	PLK2	5	57753106	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	1687	57753106	123162154	2670	23595											
DEPDC1B	55789	broad.mit.edu	37	chr5	59941425	59941425	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tccaattgcaatactgtgacGcttgtaccacatctcagaat	12	12	6	11	1	1	2	1	1	1	1	3	2	2	2	2	0	3	3	2	0	5	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:59941425G>A	ENST00000265036.5	-	4	539	c.472C>T	c.(472-474)Cgt>Tgt	p.R158C	DEPDC1B_ENST00000453022.2_Missense_Mutation_p.R158C|DEPDC1B_ENST00000545085.1_Missense_Mutation_p.R131C	NM_018369.2	NP_060839.2	Q8WUY9	DEP1B_HUMAN	DEP domain containing 1B	158					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)	p.R158G(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(2)|skin(2)	17		Lung NSC(810;0.000214)|Prostate(74;0.0147)|Breast(144;0.0991)|Ovarian(174;0.17)				ATACTGTGACGCTTGTACCAC	0.453																																						ENST00000265036.5																			1	Substitution - Missense(1)	p.R158G(1)	haematopoietic_and_lymphoid_tissue(1)	endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(2)|skin(2)	17						c.(472-474)Cgt>Tgt		DEP domain containing 1B							71	73	72					5																	59941425		2203	4300	6503	SO:0001583	missense	55789				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	g.chr5:59941425G>A	AF303178	CCDS3977.1, CCDS47214.1	5q12	2008-02-05			ENSG00000035499	ENSG00000035499			24902	protein-coding gene	gene with protein product	"breast cancer cell 3"					12477932	Standard	NM_001145208		Approved	XTP1, BRCC3	uc003jsh.3	Q8WUY9	OTTHUMG00000097083	ENST00000265036.5:c.472C>T	5.37:g.59941425G>A	ENSP00000265036:p.Arg158Cys					DEPDC1B_ENST00000545085.1_Missense_Mutation_p.R131C|DEPDC1B_ENST00000453022.2_Missense_Mutation_p.R158C	p.R158C	NM_018369.2	NP_060839.2	Q8WUY9	DEP1B_HUMAN			4	539	-		Lung NSC(810;0.000214)|Prostate(74;0.0147)|Breast(144;0.0991)|Ovarian(174;0.17)	158					A8K3R9|B4DUT4|Q86WJ3|Q8IZY6|Q9NUN3|Q9NW57	Missense_Mutation	SNP	ENST00000265036.5	37	c.472C>T	CCDS3977.1	.	.	.	.	.	.	.	.	.	.	G	26.7	4.758418	0.89843	.	.	ENSG00000035499	ENST00000265036;ENST00000453022;ENST00000545085	T;T;T	0.31769	2.2;1.89;1.48	5.72	5.72	0.89469	.	0.102227	0.64402	D	0.000004	T	0.45196	0.1330	L	0.54323	1.7	0.80722	D	1	D;D	0.71674	0.998;0.998	P;P	0.53185	0.613;0.72	T	0.10291	-1.0636	9	.	.	.	-7.6136	20.2406	0.98372	0.0:0.0:1.0:0.0	.	158;158	B4DUT4;Q8WUY9	.;DEP1B_HUMAN	C	158;158;131	ENSP00000265036:R158C;ENSP00000389101:R158C;ENSP00000438320:R131C	.	R	-	1	0	DEPDC1B	59977182	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.066000	0.64351	2.857000	0.98124	0.650000	0.86243	CGT		0.453	DEPDC1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214207.1	NM_018369		6	28	0	0	0	1	0	6	28					A	59941425	G	A	59941425	3	1	435	1	0	0	0	0	1	0	0	0	4440	1087	38	1	1149	1	DEPDC1B	5	59941425	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	2188319	59941425	120973835	2671	23596											
IPO11	51194	broad.mit.edu	37	chr5	61802186	61802186	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cgaaagagtcaacatgcaggTaattatattgtaaaacatga	18	10	8	5	1	1	2	1	1	0	1	1	3	1	2	0	1	3	3	0	1	7	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:61802186T>C	ENST00000325324.6	+	19	1951		c.e19+2		KIF2A_ENST00000509663.2_Intron|IPO11_ENST00000409296.3_Splice_Site	NM_016338.4	NP_057422.3	Q9UI26	IPO11_HUMAN	importin 11						ribosomal protein import into nucleus (GO:0006610)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein transporter activity (GO:0008565)			endometrium(2)|kidney(3)|large_intestine(5)|lung(14)|skin(4)|stomach(2)	30		Lung NSC(810;8.99e-06)|Prostate(74;0.0235)|Ovarian(174;0.0511)|Breast(144;0.077)		Lung(70;0.0613)		AACATGCAGGTAATTATATTG	0.328																																						ENST00000325324.6																			0				endometrium(2)|kidney(3)|large_intestine(5)|lung(14)|skin(4)|stomach(2)	30						c.e19+2		importin 11							63	62	62					5																	61802186		2203	4300	6503	SO:0001630	splice_region_variant	51194					cytoplasm|nucleus	protein binding	g.chr5:61802186T>C	AF111109	CCDS34167.1, CCDS47217.1	5q12.1	2008-09-19			ENSG00000086200	ENSG00000086200		"Importins"	20628	protein-coding gene	gene with protein product		610889					Standard	NM_016338		Approved	RanBP11	uc011cqr.2	Q9UI26	OTTHUMG00000154400	ENST00000325324.6:c.1782+2T>C	5.37:g.61802186T>C						IPO11_ENST00000409296.3_Splice_Site|KIF2A_ENST00000509663.2_Intron		NM_016338.4	NP_057422.3	Q9UI26	IPO11_HUMAN		Lung(70;0.0613)	19	1951	+		Lung NSC(810;8.99e-06)|Prostate(74;0.0235)|Ovarian(174;0.0511)|Breast(144;0.077)						A6NGJ5|B4DZ73|D3DW98|Q8N5R2|Q9NSJ6|Q9NVB1	Splice_Site	SNP	ENST00000325324.6	37		CCDS34167.1	.	.	.	.	.	.	.	.	.	.	T	22.5	4.294425	0.81025	.	.	ENSG00000086200	ENST00000325324;ENST00000409296;ENST00000540553	.	.	.	5.22	5.22	0.72569	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.0318	0.71713	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	IPO11	61837943	1.000000	0.71417	1.000000	0.80357	0.892000	0.51952	7.093000	0.76937	2.082000	0.62665	0.533000	0.62120	.		0.328	IPO11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335062.1	NM_016338	Intron	37	27	0	0	0	1	0	37	27					C	61802186	T	C	61802186	5	2	435	1	0	0	0	0	0	0	1	0	7793	1652	57	4	1978	4	IPO11	5	61802186	Splice_Site	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	1860761	61802186	119113074	2672	23597											
RGS7BP	401190	broad.mit.edu	37	chr5	63871674	63871674	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agtgctgcttagaaatgtatAccacagagatgctaaaatcc	15	10	8	8	0	0	2	0	0	0	2	1	3	1	2	2	0	4	4	2	0	6	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:63871674A>G	ENST00000334025.2	+	3	732	c.406A>G	c.(406-408)Acc>Gcc	p.T136A	RGS7BP_ENST00000508162.1_3'UTR|RNU6-294P_ENST00000364999.1_RNA	NM_001029875.1|NM_001271890.1|NM_001271891.1	NP_001025046.1|NP_001258819.1|NP_001258820.1	Q6MZT1	R7BP_HUMAN	regulator of G-protein signaling 7 binding protein	136					G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of signal transduction (GO:0009968)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|large_intestine(4)|lung(3)|prostate(1)|skin(1)|stomach(1)	11		Lung NSC(810;0.000518)|Prostate(74;0.0435)|Ovarian(174;0.186)		Lung(70;0.147)		AGAAATGTATACCACAGAGAT	0.428																																						ENST00000334025.2																			0				breast(1)|large_intestine(4)|lung(3)|prostate(1)|skin(1)|stomach(1)	11						c.(406-408)Acc>Gcc		regulator of G-protein signaling 7 binding protein							113	110	111					5																	63871674		2203	4300	6503	SO:0001583	missense	401190				negative regulation of signal transduction	cytoplasm|nucleus|plasma membrane		g.chr5:63871674A>G	BX640900	CCDS34170.1	5q12.3	2008-02-05	2007-08-14		ENSG00000186479	ENSG00000186479			23271	protein-coding gene	gene with protein product		610890	"regulator of G-protein signalling 7 binding protein"			15632198	Standard	NM_001271890		Approved	R7BP	uc003jtj.4	Q6MZT1	OTTHUMG00000162293	ENST00000334025.2:c.406A>G	5.37:g.63871674A>G	ENSP00000334851:p.Thr136Ala					RGS7BP_ENST00000508162.1_3'UTR	p.T136A	NM_001029875.1|NM_001271890.1|NM_001271891.1	NP_001025046.1|NP_001258819.1|NP_001258820.1	Q6MZT1	R7BP_HUMAN		Lung(70;0.147)	3	732	+		Lung NSC(810;0.000518)|Prostate(74;0.0435)|Ovarian(174;0.186)	136					B7Z3X1	Missense_Mutation	SNP	ENST00000334025.2	37	c.406A>G	CCDS34170.1	.	.	.	.	.	.	.	.	.	.	A	19.88	3.909288	0.72868	.	.	ENSG00000186479	ENST00000334025	T	0.30714	1.52	5.91	4.75	0.60458	.	0.106440	0.64402	D	0.000002	T	0.18215	0.0437	N	0.19112	0.55	0.38803	D	0.955245	B	0.02656	0.0	B	0.08055	0.003	T	0.07214	-1.0784	10	0.09843	T	0.71	4.5856	11.9291	0.52837	0.9326:0.0:0.0674:0.0	.	136	Q6MZT1	R7BP_HUMAN	A	136	ENSP00000334851:T136A	ENSP00000334851:T136A	T	+	1	0	RGS7BP	63907430	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	6.135000	0.71696	1.065000	0.40693	0.533000	0.62120	ACC		0.428	RGS7BP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368464.1	NM_001029875		31	50	0	0	0	1	0	31	50					G	63871674	A	G	63871674	3	3	435	1	0	0	0	0	1	0	0	0	13311	391	14	4	416	4	RGS7BP	5	63871674	Missense_Mutation	SNP	A	TCGA-XK-AAIW-01A-11D-A41K-08	2069488	63871674	117043586	2673	23598											
ERBB2IP	55914	broad.mit.edu	37	chr5	65344584	65344584	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tctattaaccagccaaaagtCgtagcacttagtaataacaa	17	10	5	9	1	1	0	0	0	1	0	2	0	1	0	2	0	4	3	2	0	9	6			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:65344584C>T	ENST00000284037.5	+	19	2267	c.1878C>T	c.(1876-1878)gtC>gtT	p.V626V	ERBB2IP_ENST00000380943.2_Silent_p.V626V|ERBB2IP_ENST00000416865.2_Intron|ERBB2IP_ENST00000380936.1_Silent_p.V626V|ERBB2IP_ENST00000506030.1_Silent_p.V626V|ERBB2IP_ENST00000508515.1_Silent_p.V626V|ERBB2IP_ENST00000380938.2_Silent_p.V626V|ERBB2IP_ENST00000380935.1_Silent_p.V626V|ERBB2IP_ENST00000380939.2_Silent_p.V626V|ERBB2IP_ENST00000511297.1_Silent_p.V622V	NM_001253697.1	NP_001240626.1	Q96RT1	LAP2_HUMAN	erbb2 interacting protein	626					basal protein localization (GO:0045175)|cell adhesion (GO:0007155)|cell cycle (GO:0007049)|cell growth (GO:0016049)|epidermal growth factor receptor signaling pathway (GO:0007173)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|signal transduction (GO:0007165)	basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|hemidesmosome (GO:0030056)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ErbB-2 class receptor binding (GO:0005176)|integrin binding (GO:0005178)|structural constituent of cytoskeleton (GO:0005200)			breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|skin(2)	36		Lung NSC(167;9.45e-06)|Prostate(74;0.0139)|Ovarian(174;0.0547)|Breast(144;0.093)|Colorectal(97;0.234)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0767)|Lung(70;0.00191)		AGCCAAAAGTCGTAGCACTTA	0.313																																						ENST00000284037.5																			0				breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|skin(2)	36						c.(1876-1878)gtC>gtT		erbb2 interacting protein							55	58	57					5																	65344584		2203	4300	6503	SO:0001819	synonymous_variant	55914				basal protein localization|cell adhesion|cell cycle|cell growth|epidermal growth factor receptor signaling pathway|establishment or maintenance of epithelial cell apical/basal polarity|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization	basement membrane|cytoplasm|hemidesmosome|nucleus	ErbB-2 class receptor binding|integrin binding|structural constituent of cytoskeleton	g.chr5:65344584C>T		CCDS3990.1, CCDS34172.1, CCDS58951.1, CCDS58952.1, CCDS58953.1, CCDS58954.1	5p14.3-q12.3	2008-07-18	2001-11-29		ENSG00000112851	ENSG00000112851			15842	protein-coding gene	gene with protein product	"densin-180-like protein", "ERBB2-interacting protein"	606944	"erbb2-interacting protein"			10574462, 10878805	Standard	NM_001253697		Approved	ERBIN, LAP2	uc011cqx.2	Q96RT1	OTTHUMG00000097808	ENST00000284037.5:c.1878C>T	5.37:g.65344584C>T						ERBB2IP_ENST00000380935.1_Silent_p.V626V|ERBB2IP_ENST00000380939.2_Silent_p.V626V|ERBB2IP_ENST00000380936.1_Silent_p.V626V|ERBB2IP_ENST00000416865.2_Intron|ERBB2IP_ENST00000511297.1_Silent_p.V622V|ERBB2IP_ENST00000380938.2_Silent_p.V626V|ERBB2IP_ENST00000380943.2_Silent_p.V626V|ERBB2IP_ENST00000506030.1_Silent_p.V626V|ERBB2IP_ENST00000508515.1_Silent_p.V626V	p.V626V	NM_001253697.1	NP_001240626.1	Q96RT1	LAP2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;0.0767)|Lung(70;0.00191)	19	2267	+		Lung NSC(167;9.45e-06)|Prostate(74;0.0139)|Ovarian(174;0.0547)|Breast(144;0.093)|Colorectal(97;0.234)	626					A0AVR1|B4E3F1|B7ZLV9|E7EQW9|E9PCR8|Q1RMD0|Q86W38|Q9NR18|Q9NW48|Q9ULJ5	Silent	SNP	ENST00000284037.5	37	c.1878C>T	CCDS58953.1																																																																																				0.313	ERBB2IP-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000215070.1	NM_018695		25	35	0	0	0	1	0	25	35					T	65344584	C	T	65344584	2	4	435	1	0	0	0	0	0	0	0	1	5207	871	31	2		2	ERBB2IP	5	65344584	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	1472910	65344584	115570676	2674	23599											
ERBB2IP	55914	broad.mit.edu	37	chr5	65372215	65372215	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ggtgtcgggggtagaggaaaCccattcagacctgatgatga	11	8	15	7	1	1	5	1	3	0	2	2	6	1	6	2	4	1	1	2	4	2	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:65372215C>T	ENST00000284037.5	+	24	4424	c.4035C>T	c.(4033-4035)aaC>aaT	p.N1345N	ERBB2IP_ENST00000380943.2_Silent_p.N1304N|ERBB2IP_ENST00000416865.2_Silent_p.N543N|ERBB2IP_ENST00000380936.1_Intron|ERBB2IP_ENST00000506030.1_Silent_p.N1352N|ERBB2IP_ENST00000508515.1_Silent_p.N1235N|ERBB2IP_ENST00000380938.2_Silent_p.N1304N|ERBB2IP_ENST00000503913.1_3'UTR|ERBB2IP_ENST00000380935.1_Silent_p.N1235N|ERBB2IP_ENST00000380939.2_Silent_p.N1293N|ERBB2IP_ENST00000511297.1_Silent_p.N1300N	NM_001253697.1	NP_001240626.1	Q96RT1	LAP2_HUMAN	erbb2 interacting protein	1345	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				basal protein localization (GO:0045175)|cell adhesion (GO:0007155)|cell cycle (GO:0007049)|cell growth (GO:0016049)|epidermal growth factor receptor signaling pathway (GO:0007173)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|signal transduction (GO:0007165)	basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|hemidesmosome (GO:0030056)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ErbB-2 class receptor binding (GO:0005176)|integrin binding (GO:0005178)|structural constituent of cytoskeleton (GO:0005200)			breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|skin(2)	36		Lung NSC(167;9.45e-06)|Prostate(74;0.0139)|Ovarian(174;0.0547)|Breast(144;0.093)|Colorectal(97;0.234)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0767)|Lung(70;0.00191)		GTAGAGGAAACCCATTCAGAC	0.343																																						ENST00000284037.5																			0				breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|skin(2)	36						c.(4033-4035)aaC>aaT		erbb2 interacting protein							144	144	144					5																	65372215		2203	4300	6503	SO:0001819	synonymous_variant	55914				basal protein localization|cell adhesion|cell cycle|cell growth|epidermal growth factor receptor signaling pathway|establishment or maintenance of epithelial cell apical/basal polarity|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization	basement membrane|cytoplasm|hemidesmosome|nucleus	ErbB-2 class receptor binding|integrin binding|structural constituent of cytoskeleton	g.chr5:65372215C>T		CCDS3990.1, CCDS34172.1, CCDS58951.1, CCDS58952.1, CCDS58953.1, CCDS58954.1	5p14.3-q12.3	2008-07-18	2001-11-29		ENSG00000112851	ENSG00000112851			15842	protein-coding gene	gene with protein product	"densin-180-like protein", "ERBB2-interacting protein"	606944	"erbb2-interacting protein"			10574462, 10878805	Standard	NM_001253697		Approved	ERBIN, LAP2	uc011cqx.2	Q96RT1	OTTHUMG00000097808	ENST00000284037.5:c.4035C>T	5.37:g.65372215C>T						ERBB2IP_ENST00000380935.1_Silent_p.N1235N|ERBB2IP_ENST00000380939.2_Silent_p.N1293N|ERBB2IP_ENST00000380936.1_Intron|ERBB2IP_ENST00000416865.2_Silent_p.N543N|ERBB2IP_ENST00000511297.1_Silent_p.N1300N|ERBB2IP_ENST00000380938.2_Silent_p.N1304N|ERBB2IP_ENST00000380943.2_Silent_p.N1304N|ERBB2IP_ENST00000503913.1_3'UTR|ERBB2IP_ENST00000506030.1_Silent_p.N1352N|ERBB2IP_ENST00000508515.1_Silent_p.N1235N	p.N1345N	NM_001253697.1	NP_001240626.1	Q96RT1	LAP2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;0.0767)|Lung(70;0.00191)	24	4424	+		Lung NSC(167;9.45e-06)|Prostate(74;0.0139)|Ovarian(174;0.0547)|Breast(144;0.093)|Colorectal(97;0.234)	1345			PDZ.		A0AVR1|B4E3F1|B7ZLV9|E7EQW9|E9PCR8|Q1RMD0|Q86W38|Q9NR18|Q9NW48|Q9ULJ5	Silent	SNP	ENST00000284037.5	37	c.4035C>T	CCDS58953.1																																																																																				0.343	ERBB2IP-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000215070.1	NM_018695		21	36	0	0	0	1	0	21	36					T	65372215	C	T	65372215	2	4	435	1	0	0	0	0	0	0	0	1	5207	506	18	3		3	ERBB2IP	5	65372215	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	27631	65372215	115543045	2675	23600											
SFRS12	140890	broad.mit.edu	37	chr5	65470839	65470839	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aacatcaaaaaccataaaaaGgaaatcttctagatctccgt	19	9	4	9	1	4	1	1	0	3	1	5	2	4	2	2	1	2	0	2	1	8	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:65470839G>A	ENST00000380918.3	+	11	1862	c.1202G>A	c.(1201-1203)aGg>aAg	p.R401K	SREK1_ENST00000334121.6_Missense_Mutation_p.R517K|SREK1_ENST00000284041.3_3'UTR	NM_139168.3	NP_631907.1	Q8WXA9	SREK1_HUMAN	splicing regulatory glutamine/lysine-rich protein 1	401	Arg/Glu/Lys/Ser-rich.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|kidney(3)|large_intestine(2)|lung(1)|pancreas(1)|prostate(1)	9						ACCATAAAAAGGAAATCTTCT	0.378																																					GBM(10;31 347 27684 38976 41583)	ENST00000334121.6																			0				breast(1)|kidney(3)|large_intestine(2)|lung(1)|pancreas(1)|prostate(1)	9						c.(1549-1551)aGg>aAg		splicing regulatory glutamine/lysine-rich protein 1							65	65	65					5																	65470839		2203	4300	6503	SO:0001583	missense	140890				mRNA processing|RNA splicing	spliceosomal complex	nucleic acid binding|nucleotide binding|protein binding	g.chr5:65470839G>A	AF459094	CCDS3991.1, CCDS43323.1, CCDS75253.1	5q11.2-q12.1	2013-02-12	2010-09-08	2010-09-08	ENSG00000153914	ENSG00000153914		"RNA binding motif (RRM) containing"	17882	protein-coding gene	gene with protein product	"serine-arginine-rich splicing regulatory protein 508"	609268	"splicing factor, arginine/serine-rich 12"	SFRS12		12043562	Standard	NM_001077199		Approved	DKFZp564B176, SRrp86, SRrp508	uc003jun.4	Q8WXA9	OTTHUMG00000097809	ENST00000380918.3:c.1202G>A	5.37:g.65470839G>A	ENSP00000370305:p.Arg401Lys					SREK1_ENST00000284041.3_3'UTR|SREK1_ENST00000380918.3_Missense_Mutation_p.R401K	p.R517K	NM_001077199.2|NM_001270492.1	NP_001070667.1|NP_001257421.1	Q8WXA9	SREK1_HUMAN			10	1709	+			401					A4FTW3|Q2M1J0|Q86X37	Missense_Mutation	SNP	ENST00000380918.3	37	c.1550G>A	CCDS3991.1	.	.	.	.	.	.	.	.	.	.	G	16.69	3.193009	0.58017	.	.	ENSG00000153914	ENST00000334121;ENST00000380918	T;T	0.10763	2.84;2.84	5.73	5.73	0.89815	.	0.041731	0.85682	D	0.000000	T	0.20210	0.0486	N	0.24115	0.695	0.29920	N	0.822825	P;P	0.52842	0.956;0.902	P;D	0.63033	0.899;0.91	T	0.02450	-1.1157	10	0.28530	T	0.3	.	19.888	0.96917	0.0:0.0:1.0:0.0	.	401;517	Q8WXA9;Q8WXA9-2	SREK1_HUMAN;.	K	517;401	ENSP00000334538:R517K;ENSP00000370305:R401K	ENSP00000334538:R517K	R	+	2	0	SREK1	65506595	1.000000	0.71417	1.000000	0.80357	0.694000	0.40290	6.585000	0.74062	2.720000	0.93068	0.591000	0.81541	AGG		0.378	SREK1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000381118.1	NM_001077199		9	12	0	0	0	1	0	9	12					A	65470839	G	A	65470839	3	1	435	1	0	0	0	0	1	0	0	0	14167	1000	35	3	1588	3	SFRS12	5	65470839	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	98624	65470839	115444421	2676	23601											
SFRS12	140890	broad.mit.edu	37	chr5	65474638	65474638	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaggaaaacaaaatacagcAcaatgggaattgtcagctga	18	7	10	6	0	1	2	1	2	0	0	1	4	1	4	0	2	4	2	0	2	7	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:65474638A>G	ENST00000380918.3	+	13	2129	c.1469A>G	c.(1468-1470)cAc>cGc	p.H490R	SREK1_ENST00000334121.6_Missense_Mutation_p.H606R|SREK1_ENST00000284041.3_3'UTR	NM_139168.3	NP_631907.1	Q8WXA9	SREK1_HUMAN	splicing regulatory glutamine/lysine-rich protein 1	490					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|kidney(3)|large_intestine(2)|lung(1)|pancreas(1)|prostate(1)	9						AAAATACAGCACAATGGGAAT	0.413																																					GBM(10;31 347 27684 38976 41583)	ENST00000334121.6																			0				breast(1)|kidney(3)|large_intestine(2)|lung(1)|pancreas(1)|prostate(1)	9						c.(1816-1818)cAc>cGc		splicing regulatory glutamine/lysine-rich protein 1							147	126	133					5																	65474638		2203	4300	6503	SO:0001583	missense	140890				mRNA processing|RNA splicing	spliceosomal complex	nucleic acid binding|nucleotide binding|protein binding	g.chr5:65474638A>G	AF459094	CCDS3991.1, CCDS43323.1, CCDS75253.1	5q11.2-q12.1	2013-02-12	2010-09-08	2010-09-08	ENSG00000153914	ENSG00000153914		"RNA binding motif (RRM) containing"	17882	protein-coding gene	gene with protein product	"serine-arginine-rich splicing regulatory protein 508"	609268	"splicing factor, arginine/serine-rich 12"	SFRS12		12043562	Standard	NM_001077199		Approved	DKFZp564B176, SRrp86, SRrp508	uc003jun.4	Q8WXA9	OTTHUMG00000097809	ENST00000380918.3:c.1469A>G	5.37:g.65474638A>G	ENSP00000370305:p.His490Arg					SREK1_ENST00000284041.3_3'UTR|SREK1_ENST00000380918.3_Missense_Mutation_p.H490R	p.H606R	NM_001077199.2|NM_001270492.1	NP_001070667.1|NP_001257421.1	Q8WXA9	SREK1_HUMAN			12	1976	+			490					A4FTW3|Q2M1J0|Q86X37	Missense_Mutation	SNP	ENST00000380918.3	37	c.1817A>G	CCDS3991.1	.	.	.	.	.	.	.	.	.	.	A	11.58	1.680177	0.29872	.	.	ENSG00000153914	ENST00000334121;ENST00000380918	T;T	0.40756	1.02;1.02	4.71	4.71	0.59529	.	0.777662	0.12004	N	0.508506	T	0.38348	0.1037	N	0.19112	0.55	0.31034	N	0.717126	P;P	0.47253	0.61;0.892	B;P	0.50440	0.345;0.641	T	0.12734	-1.0536	10	0.15066	T	0.55	.	14.3522	0.66711	1.0:0.0:0.0:0.0	.	490;606	Q8WXA9;Q8WXA9-2	SREK1_HUMAN;.	R	606;490	ENSP00000334538:H606R;ENSP00000370305:H490R	ENSP00000334538:H606R	H	+	2	0	SREK1	65510394	1.000000	0.71417	0.998000	0.56505	0.033000	0.12548	6.087000	0.71362	1.975000	0.57531	0.533000	0.62120	CAC		0.413	SREK1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000381118.1	NM_001077199		16	16	0	0	0	1	0	16	16					G	65474638	A	G	65474638	3	3	435	1	0	0	0	0	1	0	0	0	14167	159	6	4	1863	4	SFRS12	5	65474638	Missense_Mutation	SNP	A	TCGA-XK-AAIW-01A-11D-A41K-08	3799	65474638	115440622	2677	23602											
MAST4	375449	broad.mit.edu	37	chr5	66460263	66460263	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	catgcagctcagatgagtgcCgtctcttttgttcccctcaa	7	13	8	13	1	3	2	2	1	1	1	5	2	4	2	3	0	3	3	3	0	1	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:66460263C>T	ENST00000403625.2	+	29	5551	c.5256C>T	c.(5254-5256)gcC>gcT	p.A1752A	MAST4_ENST00000261569.7_Silent_p.A1558A|MAST4_ENST00000405643.1_Silent_p.A1573A|MAST4_ENST00000403666.1_Silent_p.A1563A|MAST4_ENST00000404260.3_Silent_p.A1755A	NM_001164664.1	NP_001158136.1	O15021	MAST4_HUMAN	microtubule associated serine/threonine kinase family member 4	1755						cytoplasm (GO:0005737)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)		AGATGAGTGCCGTCTCTTTTG	0.622																																						ENST00000404260.3																			0				breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13						c.(5263-5265)gcC>gcT		microtubule associated serine/threonine kinase family member 4							50	53	52					5																	66460263		1928	4128	6056	SO:0001819	synonymous_variant	375449					cytoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr5:66460263C>T	AY830839	CCDS47224.1, CCDS47225.1, CCDS54861.1, CCDS75254.1	5q12.3	2007-06-20			ENSG00000069020	ENSG00000069020			19037	protein-coding gene	gene with protein product						9205841	Standard	NM_198828		Approved	KIAA0303	uc021xzk.1	O15021	OTTHUMG00000152471	ENST00000403625.2:c.5256C>T	5.37:g.66460263C>T						MAST4_ENST00000261569.7_Silent_p.A1558A|MAST4_ENST00000403625.2_Silent_p.A1752A|MAST4_ENST00000403666.1_Silent_p.A1563A|MAST4_ENST00000405643.1_Silent_p.A1573A	p.A1755A			O15021	MAST4_HUMAN		Lung(70;0.011)	29	5573	+		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)	1755					A6NL49|B5ME48|Q05EE6|Q6ZN07|Q8N4X4|Q96LY3	Silent	SNP	ENST00000403625.2	37	c.5265C>T	CCDS54861.1	.	.	.	.	.	.	.	.	.	.	C	0.042	-1.278753	0.01410	.	.	ENSG00000069020	ENST00000443808	.	.	.	5.24	-10.5	0.00291	.	.	.	.	.	T	0.16428	0.0395	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.08785	-1.0705	4	.	.	.	0.9005	4.2063	0.10490	0.1753:0.0753:0.1895:0.56	.	.	.	.	C	809	.	.	R	+	1	0	MAST4	66496019	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-1.255000	0.02872	-2.719000	0.00389	-0.882000	0.02950	CGT		0.622	MAST4-001	NOVEL	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000326324.2			6	26	0	0	0	1	0	6	26					T	66460263	C	T	66460263	2	4	435	1	0	0	0	0	0	0	0	1	9327	639	23	2		2	MAST4	5	66460263	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	985625	66460263	114454997	2678	23603											
MAST4	375449	broad.mit.edu	37	chr5	66461160	66461160	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aaagatggcccaggtgaggcGaggcccccgcccagagacaa	12	2	14	13	2	0	3	0	1	0	2	0	5	0	3	4	4	0	0	4	4	2	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:66461160G>A	ENST00000403625.2	+	29	6448	c.6153G>A	c.(6151-6153)gcG>gcA	p.A2051A	MAST4_ENST00000261569.7_Silent_p.A1857A|MAST4_ENST00000405643.1_Silent_p.A1872A|MAST4_ENST00000403666.1_Silent_p.A1862A|MAST4_ENST00000404260.3_Silent_p.A2054A	NM_001164664.1	NP_001158136.1	O15021	MAST4_HUMAN	microtubule associated serine/threonine kinase family member 4	2054						cytoplasm (GO:0005737)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)		CAGGTGAGGCGAGGCCCCCGC	0.607																																						ENST00000404260.3																			0				breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13						c.(6160-6162)gcG>gcA		microtubule associated serine/threonine kinase family member 4							33	41	38					5																	66461160		1970	4141	6111	SO:0001819	synonymous_variant	375449					cytoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr5:66461160G>A	AY830839	CCDS47224.1, CCDS47225.1, CCDS54861.1, CCDS75254.1	5q12.3	2007-06-20			ENSG00000069020	ENSG00000069020			19037	protein-coding gene	gene with protein product						9205841	Standard	NM_198828		Approved	KIAA0303	uc021xzk.1	O15021	OTTHUMG00000152471	ENST00000403625.2:c.6153G>A	5.37:g.66461160G>A						MAST4_ENST00000261569.7_Silent_p.A1857A|MAST4_ENST00000403625.2_Silent_p.A2051A|MAST4_ENST00000403666.1_Silent_p.A1862A|MAST4_ENST00000405643.1_Silent_p.A1872A	p.A2054A			O15021	MAST4_HUMAN		Lung(70;0.011)	29	6470	+		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)	2054					A6NL49|B5ME48|Q05EE6|Q6ZN07|Q8N4X4|Q96LY3	Silent	SNP	ENST00000403625.2	37	c.6162G>A	CCDS54861.1	.	.	.	.	.	.	.	.	.	.	G	4.798	0.148299	0.09134	.	.	ENSG00000069020	ENST00000443808	.	.	.	4.89	-1.96	0.07525	.	.	.	.	.	T	0.40119	0.1104	.	.	.	0.44547	D	0.997502	.	.	.	.	.	.	T	0.29243	-1.0018	4	.	.	.	3.1975	2.0671	0.03605	0.3538:0.1949:0.3439:0.1074	.	.	.	.	K	1108	.	.	E	+	1	0	MAST4	66496916	0.000000	0.05858	0.008000	0.14137	0.005000	0.04900	-1.003000	0.03682	-0.213000	0.10094	-0.244000	0.11960	GAG		0.607	MAST4-001	NOVEL	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000326324.2			12	21	0	0	0	1	0	12	21					A	66461160	G	A	66461160	2	1	435	1	0	0	0	0	0	0	0	1	9327	1045	37	2		2	MAST4	5	66461160	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	897	66461160	114454100	2679	23604											
SLC30A5	64924	broad.mit.edu	37	chr5	68410309	68410309	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagccattgccttcttaggtGtggcagatcacaaggtatga	10	11	11	9	0	2	2	1	1	1	1	2	2	2	2	2	3	2	2	2	3	3	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:68410309G>A	ENST00000396591.3	+	7	1208	c.598G>A	c.(598-600)Gtg>Atg	p.V200M	CTC-498J12.3_ENST00000504129.1_RNA	NM_022902.4	NP_075053.2	Q8TAD4	ZNT5_HUMAN	solute carrier family 30 (zinc transporter), member 5	200					cellular protein metabolic process (GO:0044267)|cellular zinc ion homeostasis (GO:0006882)|cobalt ion transport (GO:0006824)|regulation of proton transport (GO:0010155)|response to zinc ion (GO:0010043)|transmembrane transport (GO:0055085)|zinc ion transmembrane transport (GO:0071577)|zinc ion transport (GO:0006829)	apical plasma membrane (GO:0016324)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|secretory granule (GO:0030141)|secretory granule membrane (GO:0030667)	zinc ion binding (GO:0008270)|zinc ion transmembrane transporter activity (GO:0005385)			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		Lung NSC(167;0.000986)|Prostate(74;0.00809)|Colorectal(97;0.0508)|Ovarian(174;0.16)		OV - Ovarian serous cystadenocarcinoma(47;1.24e-56)|Epithelial(20;1.12e-52)|all cancers(19;2.63e-48)|Lung(70;0.0177)		CTTCTTAGGTGTGGCAGATCA	0.338																																						ENST00000396591.3																			0				breast(3)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						c.(598-600)Gtg>Atg		solute carrier family 30 (zinc transporter), member 5							123	114	117					5																	68410309		2203	4300	6503	SO:0001583	missense	64924				cellular zinc ion homeostasis|cobalt ion transport|regulation of proton transport|response to zinc ion	apical plasma membrane|Golgi apparatus|integral to plasma membrane|membrane fraction|secretory granule membrane	zinc ion binding|zinc ion transmembrane transporter activity	g.chr5:68410309G>A	AF212235	CCDS3996.1, CCDS34173.1, CCDS58955.1	5q13.1	2013-05-22			ENSG00000145740	ENSG00000145740		"Solute carriers"	19089	protein-coding gene	gene with protein product		607819				11937503, 11904301	Standard	NM_022902		Approved	ZTL1, ZnT-5, FLJ12496, FLJ12756, ZNT5, MGC5499, ZNTL1	uc003jvh.3	Q8TAD4	OTTHUMG00000131253	ENST00000396591.3:c.598G>A	5.37:g.68410309G>A	ENSP00000379836:p.Val200Met					CTC-498J12.3_ENST00000504129.1_RNA	p.V200M	NM_022902.4	NP_075053.2	Q8TAD4	ZNT5_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;1.24e-56)|Epithelial(20;1.12e-52)|all cancers(19;2.63e-48)|Lung(70;0.0177)	7	1208	+		Lung NSC(167;0.000986)|Prostate(74;0.00809)|Colorectal(97;0.0508)|Ovarian(174;0.16)	200					B7ZM89|Q6UX54|Q7L4M4|Q8TDG3|Q9BVY8|Q9H9H1	Missense_Mutation	SNP	ENST00000396591.3	37	c.598G>A	CCDS3996.1	.	.	.	.	.	.	.	.	.	.	G	16.78	3.216614	0.58452	.	.	ENSG00000145740	ENST00000396591	T	0.65178	-0.14	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	T	0.70561	0.3238	L	0.47716	1.5	0.80722	D	1	D;D	0.56746	0.977;0.974	P;P	0.56648	0.803;0.667	T	0.68213	-0.5468	10	0.40728	T	0.16	-9.5564	19.3178	0.94223	0.0:0.0:1.0:0.0	.	29;200	Q8TAD4-2;Q8TAD4	.;ZNT5_HUMAN	M	200	ENSP00000379836:V200M	ENSP00000379836:V200M	V	+	1	0	SLC30A5	68446065	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.686000	0.84128	2.667000	0.90743	0.655000	0.94253	GTG		0.338	SLC30A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254017.2			24	29	0	0	0	1	0	24	29					A	68410309	G	A	68410309	3	1	435	1	0	0	0	0	1	0	0	0	14558	1377	48	3	712	3	SLC30A5	5	68410309	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	1949149	68410309	112504951	2680	23605											
RAD17	5884	broad.mit.edu	37	chr5	68670493	68670493	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aaaaagaaaattgaagaagtCgaaacctggttaaaagctca	21	7	8	5	1	1	3	1	1	0	2	2	4	1	3	1	1	2	2	1	1	9	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:68670493C>T	ENST00000509734.1	+	5	1017	c.339C>T	c.(337-339)gtC>gtT	p.V113V	RAD17_ENST00000380774.3_Silent_p.V113V|RAD17_ENST00000354312.3_Silent_p.V102V|RAD17_ENST00000521422.1_5'UTR|RAD17_ENST00000361732.2_Silent_p.V102V|RAD17_ENST00000345306.6_Silent_p.V102V|RAD17_ENST00000354868.5_Silent_p.V102V|RAD17_ENST00000282891.6_Silent_p.V16V|RAD17_ENST00000358030.2_5'UTR|RAD17_ENST00000305138.4_Silent_p.V102V|RAD17_ENST00000504177.1_Intron			O75943	RAD17_HUMAN	RAD17 homolog (S. pombe)	113					cellular response to DNA damage stimulus (GO:0006974)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication checkpoint (GO:0000076)|mitotic cell cycle checkpoint (GO:0007093)|negative regulation of DNA replication (GO:0008156)|regulation of phosphorylation (GO:0042325)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)						Lung NSC(167;5.19e-05)|Prostate(74;0.0143)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;9.36e-57)|Epithelial(20;1.21e-52)|all cancers(19;3.34e-48)|Lung(70;0.0183)		TTGAAGAAGTCGAAACCTGGT	0.279								Other conserved DNA damage response genes																														ENST00000509734.1																			0											c.(337-339)gtC>gtT	Other conserved DNA damage response genes	RAD17 homolog (S. pombe)							54	59	57					5																	68670493		2203	4296	6499	SO:0001819	synonymous_variant	5884				cell cycle|DNA damage checkpoint|DNA repair|DNA replication|DNA replication checkpoint|mitotic cell cycle checkpoint|negative regulation of DNA replication|regulation of phosphorylation	nucleoplasm	ATP binding|nucleoside-triphosphatase activity|protein binding	g.chr5:68670493C>T	AF085736	CCDS4003.1, CCDS4004.1, CCDS4005.1, CCDS47226.1	5q13	2010-09-24	2001-11-28		ENSG00000152942	ENSG00000152942			9807	protein-coding gene	gene with protein product		603139	"RAD1 (S. pombe) homolog"			9869296, 9660800	Standard	NM_133343		Approved	Rad24, RAD17Sp, CCYC	uc003jwo.3	O75943	OTTHUMG00000099357	ENST00000509734.1:c.339C>T	5.37:g.68670493C>T						RAD17_ENST00000521422.1_5'UTR|RAD17_ENST00000504177.1_Intron|RAD17_ENST00000380774.3_Silent_p.V113V|RAD17_ENST00000361732.2_Silent_p.V102V|RAD17_ENST00000358030.2_5'UTR|RAD17_ENST00000345306.6_Silent_p.V102V|RAD17_ENST00000354868.5_Silent_p.V102V|RAD17_ENST00000354312.3_Silent_p.V102V|RAD17_ENST00000282891.6_Silent_p.V16V|RAD17_ENST00000305138.4_Silent_p.V102V	p.V113V			O75943	RAD17_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;9.36e-57)|Epithelial(20;1.21e-52)|all cancers(19;3.34e-48)|Lung(70;0.0183)	5	1017	+		Lung NSC(167;5.19e-05)|Prostate(74;0.0143)|Ovarian(174;0.0448)|Breast(144;0.198)	113					A8K8X2|D3DWA5|O75714|Q7Z3S4|Q9UNK7|Q9UNR7|Q9UNR8|Q9UPF5	Silent	SNP	ENST00000509734.1	37	c.339C>T	CCDS4003.1																																																																																				0.279	RAD17-008	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369171.1	NM_133344		25	33	0	0	0	1	0	25	33					T	68670493	C	T	68670493	2	4	435	1	0	0	0	0	0	0	0	1	12979	871	31	2		2	RAD17	5	68670493	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	260184	68670493	112244767	2681	23606											
RAD17	5884	broad.mit.edu	37	chr5	68692341	68692341	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gatcaagttttcgacccttgCacaaacctcagtggtttcta	10	13	7	11	1	3	0	2	0	1	0	4	2	3	0	2	1	2	3	2	1	3	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:68692341C>T	ENST00000509734.1	+	15	2251	c.1573C>T	c.(1573-1575)Cac>Tac	p.H525Y	RAD17_ENST00000380774.3_Missense_Mutation_p.H525Y|RAD17_ENST00000521422.1_Missense_Mutation_p.H349Y|RAD17_ENST00000282891.6_Missense_Mutation_p.H428Y|RAD17_ENST00000361732.2_Missense_Mutation_p.H514Y|RAD17_ENST00000504177.1_Intron|RAD17_ENST00000345306.6_Missense_Mutation_p.H514Y|RAD17_ENST00000358030.2_Missense_Mutation_p.H349Y|RAD17_ENST00000354312.3_Missense_Mutation_p.H514Y|RAD17_ENST00000305138.4_Missense_Mutation_p.H514Y|RAD17_ENST00000354868.5_Missense_Mutation_p.H514Y			O75943	RAD17_HUMAN	RAD17 homolog (S. pombe)	525	Interaction with MCM7.				cellular response to DNA damage stimulus (GO:0006974)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication checkpoint (GO:0000076)|mitotic cell cycle checkpoint (GO:0007093)|negative regulation of DNA replication (GO:0008156)|regulation of phosphorylation (GO:0042325)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)						Lung NSC(167;5.19e-05)|Prostate(74;0.0143)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;9.36e-57)|Epithelial(20;1.21e-52)|all cancers(19;3.34e-48)|Lung(70;0.0183)		TCGACCCTTGCACAAACCTCA	0.358								Other conserved DNA damage response genes																														ENST00000509734.1																			0											c.(1573-1575)Cac>Tac	Other conserved DNA damage response genes	RAD17 homolog (S. pombe)							56	48	50					5																	68692341		2203	4300	6503	SO:0001583	missense	5884				cell cycle|DNA damage checkpoint|DNA repair|DNA replication|DNA replication checkpoint|mitotic cell cycle checkpoint|negative regulation of DNA replication|regulation of phosphorylation	nucleoplasm	ATP binding|nucleoside-triphosphatase activity|protein binding	g.chr5:68692341C>T	AF085736	CCDS4003.1, CCDS4004.1, CCDS4005.1, CCDS47226.1	5q13	2010-09-24	2001-11-28		ENSG00000152942	ENSG00000152942			9807	protein-coding gene	gene with protein product		603139	"RAD1 (S. pombe) homolog"			9869296, 9660800	Standard	NM_133343		Approved	Rad24, RAD17Sp, CCYC	uc003jwo.3	O75943	OTTHUMG00000099357	ENST00000509734.1:c.1573C>T	5.37:g.68692341C>T	ENSP00000426191:p.His525Tyr					RAD17_ENST00000305138.4_Missense_Mutation_p.H514Y|RAD17_ENST00000504177.1_Intron|RAD17_ENST00000354868.5_Missense_Mutation_p.H514Y|RAD17_ENST00000380774.3_Missense_Mutation_p.H525Y|RAD17_ENST00000521422.1_Missense_Mutation_p.H349Y|RAD17_ENST00000282891.6_Missense_Mutation_p.H428Y|RAD17_ENST00000354312.3_Missense_Mutation_p.H514Y|RAD17_ENST00000345306.6_Missense_Mutation_p.H514Y|RAD17_ENST00000358030.2_Missense_Mutation_p.H349Y|RAD17_ENST00000361732.2_Missense_Mutation_p.H514Y	p.H525Y			O75943	RAD17_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;9.36e-57)|Epithelial(20;1.21e-52)|all cancers(19;3.34e-48)|Lung(70;0.0183)	15	2251	+		Lung NSC(167;5.19e-05)|Prostate(74;0.0143)|Ovarian(174;0.0448)|Breast(144;0.198)	525			Interaction with MCM7.		A8K8X2|D3DWA5|O75714|Q7Z3S4|Q9UNK7|Q9UNR7|Q9UNR8|Q9UPF5	Missense_Mutation	SNP	ENST00000509734.1	37	c.1573C>T	CCDS4003.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.987131	0.74589	.	.	ENSG00000152942	ENST00000361732;ENST00000509734;ENST00000354868;ENST00000521422;ENST00000354312;ENST00000345306;ENST00000305138;ENST00000282891;ENST00000358030;ENST00000380774;ENST00000513214	T;T;T;T;T;T;T;T;T;T;T	0.22336	1.96;1.96;1.96;1.96;1.96;1.96;1.96;1.96;1.96;1.96;1.96	5.24	5.24	0.73138	.	0.046317	0.85682	D	0.000000	T	0.37705	0.1013	L	0.45581	1.43	0.50313	D	0.999863	D;P;D	0.57571	0.98;0.944;0.975	P;P;P	0.61940	0.896;0.69;0.833	T	0.01524	-1.1333	10	0.33141	T	0.24	-9.9735	17.9459	0.89038	0.0:1.0:0.0:0.0	.	525;428;514	O75943;O75943-4;O75943-2	RAD17_HUMAN;.;.	Y	514;525;514;349;514;514;514;428;349;525;133	ENSP00000355226:H514Y;ENSP00000426191:H525Y;ENSP00000346938:H514Y;ENSP00000427743:H349Y;ENSP00000346271:H514Y;ENSP00000311227:H514Y;ENSP00000303134:H514Y;ENSP00000282891:H428Y;ENSP00000350725:H349Y;ENSP00000370151:H525Y;ENSP00000425005:H133Y	ENSP00000282891:H428Y	H	+	1	0	RAD17	68728097	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.977000	0.63792	2.597000	0.87782	0.557000	0.71058	CAC		0.358	RAD17-008	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369171.1	NM_133344		11	23	0	0	0	1	0	11	23					T	68692341	C	T	68692341	3	4	435	1	0	0	0	0	1	0	0	0	12979	710	25	3	1636	3	RAD17	5	68692341	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	21848	68692341	112222919	2682	23607											
BDP1	55814	broad.mit.edu	37	chr5	70791091	70791091	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ttttagtaatcaacaagatgCcacatcagtagcaactgagt	15	11	7	8	0	2	2	2	1	0	1	2	2	2	2	1	0	4	3	1	0	6	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:70791091C>T	ENST00000358731.4	+	12	1918	c.1655C>T	c.(1654-1656)gCc>gTc	p.A552V	BDP1_ENST00000380675.2_5'UTR	NM_018429.2	NP_060899.2	A6H8Y1	BDP1_HUMAN	B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB	552					gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase III promoter (GO:0006383)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)		CAACAAGATGCCACATCAGTA	0.303																																						ENST00000358731.4																			0				NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72						c.(1654-1656)gCc>gTc		B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB							88	78	81					5																	70791091		1811	4075	5886	SO:0001583	missense	55814				regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding	g.chr5:70791091C>T	AF298151	CCDS43328.1	5q12-q13	2008-02-05	2001-11-29	2001-11-30	ENSG00000145734	ENSG00000145734			13652	protein-coding gene	gene with protein product		607012	"TATA box binding protein (TBP)-associated factor, RNA polymerase III, GTF3B subunit 1"	TFNR, TAF3B1		11214970, 11040218	Standard	NM_018429		Approved	TFIIIB150, TFC5, TFIIIB90, KIAA1689, HSA238520, KIAA1241	uc003kbp.1	A6H8Y1	OTTHUMG00000162506	ENST00000358731.4:c.1655C>T	5.37:g.70791091C>T	ENSP00000351575:p.Ala552Val					BDP1_ENST00000380675.2_5'UTR	p.A552V	NM_018429.2	NP_060899.2	A6H8Y1	BDP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)	12	1918	+		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)	552					Q68DS6|Q68DY5|Q6MZL9|Q6PIM7|Q86W98|Q96LR8|Q9C0H4|Q9H197|Q9H1A1|Q9HAW1|Q9HAW2|Q9HCY0|Q9ULH9	Missense_Mutation	SNP	ENST00000358731.4	37	c.1655C>T	CCDS43328.1	.	.	.	.	.	.	.	.	.	.	C	9.799	1.179987	0.21787	.	.	ENSG00000145734	ENST00000358731;ENST00000437938;ENST00000451951;ENST00000444711	T	0.37752	1.18	5.61	-9.07	0.00724	.	0.954942	0.08732	N	0.901896	T	0.12433	0.0302	N	0.13043	0.29	0.09310	N	0.999996	B;B;B	0.09022	0.002;0.002;0.002	B;B;B	0.11329	0.004;0.004;0.006	T	0.21895	-1.0232	10	0.13108	T	0.6	.	1.9303	0.03325	0.3704:0.1276:0.0917:0.4103	.	552;552;552	A6H8Y1;A6H8Y1-2;A6H8Y1-4	BDP1_HUMAN;.;.	V	552;552;132;552	ENSP00000351575:A552V	ENSP00000351575:A552V	A	+	2	0	BDP1	70826847	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.769000	0.01792	-1.610000	0.01583	-0.137000	0.14449	GCC		0.303	BDP1-016	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000374681.2	NM_018429		17	41	0	0	0	1	0	17	41					T	70791091	C	T	70791091	3	4	435	1	0	0	0	0	1	0	0	0	1395	739	26	3	1701	3	BDP1	5	70791091	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	2098750	70791091	110124169	2683	23608											
MAP1B	4131	broad.mit.edu	37	chr5	71492735	71492735	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgatgttacaccgctcaacGgattttctgaaggatcaaaa	13	11	8	9	2	3	2	2	2	1	0	3	4	3	4	1	2	2	2	1	2	5	3	rs371761339		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:71492735G>A	ENST00000296755.7	+	5	3851	c.3553G>A	c.(3553-3555)Gga>Aga	p.G1185R		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	1185					axon extension (GO:0048675)|cellular process (GO:0009987)|dendrite development (GO:0016358)|establishment of monopolar cell polarity (GO:0061162)|microtubule bundle formation (GO:0001578)|mitochondrion transport along microtubule (GO:0047497)|negative regulation of intracellular transport (GO:0032387)|positive regulation of axon extension (GO:0045773)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|plasma membrane (GO:0005886)|synapse (GO:0045202)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		ACCGCTCAACGGATTTTCTGA	0.423																																					Melanoma(17;367 822 11631 31730 47712)	ENST00000296755.7																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104						c.(3553-3555)Gga>Aga		microtubule-associated protein 1B		G	ARG/GLY	0,4406		0,0,2203	75	69	71		3553	5.3	0.7	5		71	1,8599	1.2+/-3.3	0,1,4299	no	missense	MAP1B	NM_005909.3	125	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	1185/2469	71492735	1,13005	2203	4300	6503	SO:0001583	missense	4131					microtubule|microtubule associated complex	structural molecule activity	g.chr5:71492735G>A	L06237	CCDS4012.1	5q13	2014-06-12			ENSG00000131711	ENSG00000131711			6836	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 102"	157129				1881920	Standard	NM_005909		Approved	MAP5, PPP1R102	uc003kbw.4	P46821	OTTHUMG00000100952	ENST00000296755.7:c.3553G>A	5.37:g.71492735G>A	ENSP00000296755:p.Gly1185Arg						p.G1185R	NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)	5	3851	+		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)	1185					A2BDK5	Missense_Mutation	SNP	ENST00000296755.7	37	c.3553G>A	CCDS4012.1	.	.	.	.	.	.	.	.	.	.	G	11.47	1.647215	0.29246	0.0	1.16E-4	ENSG00000131711	ENST00000296755	T	0.03272	3.99	5.26	5.26	0.73747	.	0.000000	0.56097	D	0.000025	T	0.10637	0.0260	N	0.24115	0.695	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.73708	0.981;0.965	T	0.14980	-1.0453	10	0.62326	D	0.03	-20.2751	19.0668	0.93114	0.0:0.0:1.0:0.0	.	1059;1185	A2BDK6;P46821	.;MAP1B_HUMAN	R	1185	ENSP00000296755:G1185R	ENSP00000296755:G1185R	G	+	1	0	MAP1B	71528491	0.939000	0.31865	0.670000	0.29842	0.005000	0.04900	6.564000	0.73969	2.743000	0.94032	0.655000	0.94253	GGA		0.423	MAP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218561.6	NM_005909		28	20	0	0	0	1	0	28	20					A	71492735	G	A	71492735	3	1	435	1	0	0	0	0	1	0	0	0	9228	1117	39	2	3571	2	MAP1B	5	71492735	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	701644	71492735	109422525	2684	23609											
MAP1B	4131	broad.mit.edu	37	chr5	71495575	71495575	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caatcagggggagccccaccGcctccaggaggaaagcaaca	13	2	12	14	1	1	0	1	0	0	0	2	3	2	3	5	4	3	1	5	4	3	0	rs149330290		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:71495575G>A	ENST00000296755.7	+	5	6691	c.6393G>A	c.(6391-6393)ccG>ccA	p.P2131P		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	2131					axon extension (GO:0048675)|cellular process (GO:0009987)|dendrite development (GO:0016358)|establishment of monopolar cell polarity (GO:0061162)|microtubule bundle formation (GO:0001578)|mitochondrion transport along microtubule (GO:0047497)|negative regulation of intracellular transport (GO:0032387)|positive regulation of axon extension (GO:0045773)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|plasma membrane (GO:0005886)|synapse (GO:0045202)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		GAGCCCCACCGCCTCCAGGAG	0.567																																					Melanoma(17;367 822 11631 31730 47712)	ENST00000296755.7																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104						c.(6391-6393)ccG>ccA		microtubule-associated protein 1B		G		0,4406		0,0,2203	71	73	72		6393	-7	0.8	5	dbSNP_134	72	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	MAP1B	NM_005909.3		0,2,6501	AA,AG,GG		0.0233,0.0,0.0154		2131/2469	71495575	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	4131					microtubule|microtubule associated complex	structural molecule activity	g.chr5:71495575G>A	L06237	CCDS4012.1	5q13	2014-06-12			ENSG00000131711	ENSG00000131711			6836	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 102"	157129				1881920	Standard	NM_005909		Approved	MAP5, PPP1R102	uc003kbw.4	P46821	OTTHUMG00000100952	ENST00000296755.7:c.6393G>A	5.37:g.71495575G>A							p.P2131P	NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)	5	6691	+		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)	2131					A2BDK5	Silent	SNP	ENST00000296755.7	37	c.6393G>A	CCDS4012.1																																																																																				0.567	MAP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218561.6	NM_005909		24	34	0	0	0	1	0	24	34					A	71495575	G	A	71495575	2	1	435	1	0	0	0	0	0	0	0	1	9228	1074	38	1		1	MAP1B	5	71495575	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	2840	71495575	109419685	2685	23610											
ZNF366	167465	broad.mit.edu	37	chr5	71752270	71752270	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acgtcagagtggacgatcatGtgtgccttgagggtctgctt	7	12	14	8	2	3	2	2	1	1	1	3	4	3	3	1	2	2	1	1	2	0	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:71752270G>A	ENST00000318442.5	-	3	1975	c.1485C>T	c.(1483-1485)caC>caT	p.H495H		NM_152625.1	NP_689838.1	Q8N895	ZN366_HUMAN	zinc finger protein 366	495	Interaction with NRIP1.				negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|estrogen receptor binding (GO:0030331)|metal ion binding (GO:0046872)|transcription corepressor activity (GO:0003714)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	35		Lung NSC(167;0.0247)|Ovarian(174;0.0908)|Prostate(461;0.155)		OV - Ovarian serous cystadenocarcinoma(47;2.51e-53)		GGACGATCATGTGTGCCTTGA	0.547																																						ENST00000318442.5																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	35						c.(1483-1485)caC>caT		zinc finger protein 366							329	278	295					5																	71752270		2203	4300	6503	SO:0001819	synonymous_variant	0				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr5:71752270G>A	AK097115	CCDS4015.1	5q13.1	2013-01-08			ENSG00000178175	ENSG00000178175		"Zinc fingers, C2H2-type"	18316	protein-coding gene	gene with protein product		610159					Standard	NM_152625		Approved	FLJ39796	uc003kce.1	Q8N895	OTTHUMG00000100965	ENST00000318442.5:c.1485C>T	5.37:g.71752270G>A							p.H495H	NM_152625.1	NP_689838.1	Q8N895	ZN366_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;2.51e-53)	3	1975	-		Lung NSC(167;0.0247)|Ovarian(174;0.0908)|Prostate(461;0.155)	495					Q5HYI9|Q7RTV4	Silent	SNP	ENST00000318442.5	37	c.1485C>T	CCDS4015.1																																																																																				0.547	ZNF366-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218574.3			90	106	0	0	0	1	0	90	106					A	71752270	G	A	71752270	2	1	435	1	0	0	0	0	0	0	0	1	17867	1368	48	3		3	ZNF366	5	71752270	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	256695	71752270	109162990	2686	23611											
ZNF366	167465	broad.mit.edu	37	chr5	71756333	71756333	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtgcggcttcacctcgctgtGctgcatcatgtggcgcttca	4	12	12	13	3	3	0	3	0	0	0	4	0	3	0	1	2	3	5	1	2	0	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:71756333G>A	ENST00000318442.5	-	2	1481	c.991C>T	c.(991-993)Cac>Tac	p.H331Y		NM_152625.1	NP_689838.1	Q8N895	ZN366_HUMAN	zinc finger protein 366	331					negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|estrogen receptor binding (GO:0030331)|metal ion binding (GO:0046872)|transcription corepressor activity (GO:0003714)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	35		Lung NSC(167;0.0247)|Ovarian(174;0.0908)|Prostate(461;0.155)		OV - Ovarian serous cystadenocarcinoma(47;2.51e-53)		ACCTCGCTGTGCTGCATCATG	0.667																																						ENST00000318442.5																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	35						c.(991-993)Cac>Tac		zinc finger protein 366							39	38	38					5																	71756333		2203	4300	6503	SO:0001583	missense	0				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr5:71756333G>A	AK097115	CCDS4015.1	5q13.1	2013-01-08			ENSG00000178175	ENSG00000178175		"Zinc fingers, C2H2-type"	18316	protein-coding gene	gene with protein product		610159					Standard	NM_152625		Approved	FLJ39796	uc003kce.1	Q8N895	OTTHUMG00000100965	ENST00000318442.5:c.991C>T	5.37:g.71756333G>A	ENSP00000313158:p.His331Tyr						p.H331Y	NM_152625.1	NP_689838.1	Q8N895	ZN366_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;2.51e-53)	2	1481	-		Lung NSC(167;0.0247)|Ovarian(174;0.0908)|Prostate(461;0.155)	331					Q5HYI9|Q7RTV4	Missense_Mutation	SNP	ENST00000318442.5	37	c.991C>T	CCDS4015.1	.	.	.	.	.	.	.	.	.	.	G	26.1	4.700914	0.88924	.	.	ENSG00000178175	ENST00000318442	T	0.67523	-0.27	5.65	5.65	0.86999	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.64402	D	0.000002	D	0.89469	0.6724	H	0.98005	4.125	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.92957	0.6385	10	0.87932	D	0	-44.0345	19.7279	0.96172	0.0:0.0:1.0:0.0	.	331	Q8N895	ZN366_HUMAN	Y	331	ENSP00000313158:H331Y	ENSP00000313158:H331Y	H	-	1	0	ZNF366	71792089	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.869000	0.99810	2.659000	0.90383	0.561000	0.74099	CAC		0.667	ZNF366-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218574.3			11	15	0	0	0	1	0	11	15					A	71756333	G	A	71756333	3	1	435	1	0	0	0	0	1	0	0	0	17867	1319	46	3	1259	3	ZNF366	5	71756333	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	4063	71756333	109158927	2687	23612											
TNPO1	3842	broad.mit.edu	37	chr5	72183988	72183988	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctgataaaaaggctcttgtgCgttccataacatgctggact	11	12	9	9	1	1	1	0	1	1	0	2	2	2	2	1	2	3	3	1	2	4	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:72183988C>T	ENST00000337273.5	+	13	1813	c.1387C>T	c.(1387-1389)Cgt>Tgt	p.R463C	TNPO1_ENST00000506351.2_Missense_Mutation_p.R455C|TNPO1_ENST00000454282.1_Missense_Mutation_p.R413C|TNPO1_ENST00000523768.1_Missense_Mutation_p.R413C	NM_002270.3	NP_002261.3	Q92973	TNPO1_HUMAN	transportin 1	463					gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|protein import into nucleus, translocation (GO:0000060)|RNA metabolic process (GO:0016070)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	nuclear localization sequence binding (GO:0008139)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(10)|lung(6)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	36		Lung NSC(167;0.0053)|Ovarian(174;0.0175)		OV - Ovarian serous cystadenocarcinoma(47;6.14e-54)		GGCTCTTGTGCGTTCCATAAC	0.463																																						ENST00000337273.5																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(10)|lung(6)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	36						c.(1387-1389)Cgt>Tgt		transportin 1							119	116	117					5																	72183988		2203	4300	6503	SO:0001583	missense	3842				interspecies interaction between organisms|mRNA metabolic process|protein import into nucleus, translocation	cytosol|nucleus	nuclear localization sequence binding|protein binding|protein transporter activity	g.chr5:72183988C>T	U70322	CCDS4016.1, CCDS43329.1	5q13.1	2009-01-12	2004-01-29	2004-01-30	ENSG00000083312	ENSG00000083312		"Importins"	6401	protein-coding gene	gene with protein product	"importin 2"	602901	"karyopherin (importin) beta 2"	KPNB2		8808633, 9144189	Standard	NM_153188		Approved	MIP, TRN, IPO2, MIP1	uc003kci.4	Q92973	OTTHUMG00000100967	ENST00000337273.5:c.1387C>T	5.37:g.72183988C>T	ENSP00000336712:p.Arg463Cys					TNPO1_ENST00000506351.2_Missense_Mutation_p.R455C|TNPO1_ENST00000523768.1_Missense_Mutation_p.R413C|TNPO1_ENST00000454282.1_Missense_Mutation_p.R413C	p.R463C	NM_002270.3	NP_002261.3	Q92973	TNPO1_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;6.14e-54)	13	1813	+		Lung NSC(167;0.0053)|Ovarian(174;0.0175)	463					B4DVC6|Q92957|Q92975	Missense_Mutation	SNP	ENST00000337273.5	37	c.1387C>T	CCDS43329.1	.	.	.	.	.	.	.	.	.	.	C	32	5.168767	0.94768	.	.	ENSG00000083312	ENST00000337273;ENST00000454282;ENST00000523768;ENST00000506351	T;T;T;T	0.63744	-0.06;-0.06;-0.06;-0.06	5.56	5.56	0.83823	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.87111	0.6096	H	0.96691	3.865	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.90800	0.4693	10	0.87932	D	0	-13.0346	19.8805	0.96895	0.0:1.0:0.0:0.0	.	413;463	Q92973-3;Q92973	.;TNPO1_HUMAN	C	463;413;413;455	ENSP00000336712:R463C;ENSP00000398524:R413C;ENSP00000428899:R413C;ENSP00000425118:R455C	ENSP00000336712:R463C	R	+	1	0	TNPO1	72219744	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.710000	0.68392	2.778000	0.95560	0.655000	0.94253	CGT		0.463	TNPO1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000218577.3	NM_002270		16	37	0	0	0	1	0	16	37					T	72183988	C	T	72183988	3	4	435	1	0	0	0	0	1	0	0	0	16332	768	27	1	1437	1	TNPO1	5	72183988	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	427655	72183988	108731272	2688	23613											
GCNT4	51301	broad.mit.edu	37	chr5	74324764	74324764	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtaattccacttgacaaggcGagtcttactctgcagatcag	11	11	9	10	1	3	2	1	1	2	1	4	3	4	2	1	1	2	2	1	1	3	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:74324764G>A	ENST00000322348.4	-	1	1960	c.1099C>T	c.(1099-1101)Cgc>Tgc	p.R367C		NM_016591.2	NP_057675.1	Q9P109	GCNT4_HUMAN	glucosaminyl (N-acetyl) transferase 4, core 2	367					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|homeostasis of number of cells (GO:0048872)|inter-male aggressive behavior (GO:0002121)|kidney morphogenesis (GO:0060993)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein O-linked glycosylation (GO:0006493)|thyroid hormone metabolic process (GO:0042403)|tissue morphogenesis (GO:0048729)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity (GO:0003829)|N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity (GO:0008109)	p.R367C(1)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|ovary(2)|skin(1)|stomach(2)	19		all_lung(232;0.0131)|Lung NSC(167;0.0282)|Ovarian(174;0.0798)		OV - Ovarian serous cystadenocarcinoma(47;8.44e-57)		TTGACAAGGCGAGTCTTACTC	0.468																																						ENST00000322348.4																			1	Substitution - Missense(1)	p.R367C(1)	large_intestine(1)	NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|ovary(2)|skin(1)|stomach(2)	19						c.(1099-1101)Cgc>Tgc		glucosaminyl (N-acetyl) transferase 4, core 2							57	57	57					5																	74324764		2203	4300	6503	SO:0001583	missense	51301				protein O-linked glycosylation	Golgi membrane|integral to membrane	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity|N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity	g.chr5:74324764G>A	AF132035	CCDS4026.1	5q12	2013-02-25	2010-03-16		ENSG00000176928	ENSG00000176928	2.4.1.102	"Glucosaminyl (N-acetyl) transferase and xylosyltransferase family"	17973	protein-coding gene	gene with protein product	"core 2 beta-1,6-N-acetylglucosaminyltransferase 3", "beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase 4"		"glucosaminyl (N-acetyl) transferase 4, core 2 (beta-1,6-N-acetylglucosaminyltransferase)"			10753916	Standard	NM_016591		Approved	C2GNT3	uc003kdn.3	Q9P109	OTTHUMG00000131272	ENST00000322348.4:c.1099C>T	5.37:g.74324764G>A	ENSP00000317027:p.Arg367Cys						p.R367C	NM_016591.2	NP_057675.1	Q9P109	GCNT4_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;8.44e-57)	1	1960	-		all_lung(232;0.0131)|Lung NSC(167;0.0282)|Ovarian(174;0.0798)	367						Missense_Mutation	SNP	ENST00000322348.4	37	c.1099C>T	CCDS4026.1	.	.	.	.	.	.	.	.	.	.	.	19.83	3.899440	0.72754	.	.	ENSG00000176928	ENST00000322348	T	0.14266	2.52	6.06	5.19	0.71726	.	0.000000	0.85682	D	0.000000	T	0.47266	0.1436	M	0.90483	3.12	0.58432	D	0.999995	D	0.89917	1.0	D	0.97110	1.0	T	0.60632	-0.7225	10	0.87932	D	0	-17.3237	17.5239	0.87794	0.0:0.1237:0.8762:0.0	.	367	Q9P109	GCNT4_HUMAN	C	367	ENSP00000317027:R367C	ENSP00000317027:R367C	R	-	1	0	GCNT4	74360520	1.000000	0.71417	0.998000	0.56505	0.979000	0.70002	6.412000	0.73303	1.563000	0.49615	0.650000	0.86243	CGC		0.468	GCNT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254040.1	NM_016591		4	37	0	0	0	1	0	4	37					A	74324764	G	A	74324764	3	1	435	1	0	0	0	0	1	0	0	0	6303	1058	37	2	266	2	GCNT4	5	74324764	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	2140776	74324764	106590496	2689	23614											
COL4A3BP	10087	broad.mit.edu	37	chr5	74676896	74676896	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	caaaaacaataaaatacataCcattagctacatatgtaatc	21	10	2	8	0	0	0	0	0	0	0	1	0	0	0	1	0	5	2	1	0	11	7			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:74676896C>T	ENST00000405807.4	-	16	2169		c.e16+1		COL4A3BP_ENST00000261415.7_Splice_Site|COL4A3BP_ENST00000508692.1_Intron|COL4A3BP_ENST00000380494.5_Splice_Site	NM_005713.2	NP_005704.1	Q9Y5P4	C43BP_HUMAN	collagen, type IV, alpha 3 (Goodpasture antigen) binding protein						cell morphogenesis (GO:0000902)|cell proliferation (GO:0008283)|ceramide metabolic process (GO:0006672)|endoplasmic reticulum organization (GO:0007029)|ER to Golgi ceramide transport (GO:0035621)|heart morphogenesis (GO:0003007)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|lipid homeostasis (GO:0055088)|mitochondrion morphogenesis (GO:0070584)|muscle contraction (GO:0006936)|protein phosphorylation (GO:0006468)|response to endoplasmic reticulum stress (GO:0034976)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)	cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ceramide binding (GO:0097001)|ceramide transporter activity (GO:0035620)|phosphatidylinositol-4-phosphate binding (GO:0070273)|protein kinase activity (GO:0004672)			breast(1)|kidney(1)|large_intestine(5)|lung(4)|skin(3)|stomach(1)|urinary_tract(1)	16		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Prostate(461;0.174)		OV - Ovarian serous cystadenocarcinoma(47;1e-53)		AAAATACATACCATTAGCTAC	0.353																																						ENST00000380494.5																			0				breast(1)|kidney(1)|large_intestine(5)|lung(4)|skin(3)|stomach(1)|urinary_tract(1)	16						c.e17+1		collagen, type IV, alpha 3 (Goodpasture antigen) binding protein							206	187	194					5																	74676896		2203	4300	6503	SO:0001630	splice_region_variant	10087				ER to Golgi ceramide transport|immune response	cytosol|endoplasmic reticulum membrane|Golgi apparatus	ceramide binding|phosphatidylinositol-4-phosphate binding|protein binding|protein kinase activity	g.chr5:74676896C>T	AF136450	CCDS4028.1, CCDS4029.1, CCDS47235.1	5q13.3	2013-01-10	2007-06-08	2007-06-08	ENSG00000113163	ENSG00000113163		"StAR-related lipid transfer (START) domain containing", "Pleckstrin homology (PH) domain containing"	2205	protein-coding gene	gene with protein product	"ceramide transporter", "StAR-related lipid transfer (START) domain containing 11"	604677				10212244	Standard	NM_001130105		Approved	GPBP, STARD11, CERT	uc003kdt.3	Q9Y5P4	OTTHUMG00000102068	ENST00000405807.4:c.1747+1G>A	5.37:g.74676896C>T						COL4A3BP_ENST00000508692.1_Intron|COL4A3BP_ENST00000261415.7_Splice_Site|COL4A3BP_ENST00000405807.4_Splice_Site		NM_001130105.1	NP_001123577.1	Q9Y5P4	C43BP_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;1e-53)	17	2425	-		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Prostate(461;0.174)						A8K7S2|B3KUB7|Q53YV1|Q53YV2|Q96Q85|Q96Q88|Q9H2S7|Q9H2S8	Splice_Site	SNP	ENST00000405807.4	37		CCDS4028.1	.	.	.	.	.	.	.	.	.	.	C	27.1	4.804761	0.90623	.	.	ENSG00000113163	ENST00000357457;ENST00000405807;ENST00000380494;ENST00000261415;ENST00000508809	.	.	.	5.91	5.91	0.95273	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.3058	0.98631	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	COL4A3BP	74712652	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.759000	0.85235	2.789000	0.95967	0.643000	0.83706	.		0.353	COL4A3BP-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219875.2	NM_005713	Intron	27	51	0	0	0	1	0	27	51					T	74676896	C	T	74676896	5	4	435	1	0	0	0	0	0	0	1	0	3692	521	18	3	134	3	COL4A3BP	5	74676896	Splice_Site	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	352132	74676896	106238364	2690	23615											
POC5	134359	broad.mit.edu	37	chr5	74981187	74981187	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gacggcggctggtggggatgGcagcagtggtgatgtaactg	7	8	20	6	2	0	1	0	1	0	0	0	3	0	2	0	7	2	4	0	7	1	1	rs138072982	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:74981187G>A	ENST00000428202.2	-	10	1441	c.1252C>T	c.(1252-1254)Cca>Tca	p.P418S	POC5_ENST00000380475.2_Missense_Mutation_p.P301S|POC5_ENST00000514838.2_Missense_Mutation_p.P390S|POC5_ENST00000510798.1_Missense_Mutation_p.P301S|POC5_ENST00000446329.2_Missense_Mutation_p.P393S	NM_001099271.1	NP_001092741.1	Q8NA72	POC5_HUMAN	POC5 centriolar protein	418					cell cycle (GO:0007049)	centrosome (GO:0005813)|cytoplasm (GO:0005737)				breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						GGTGGGGATGGCAGCAGTGGT	0.552																																						ENST00000428202.2																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						c.(1252-1254)Cca>Tca		POC5 centriolar protein							109	128	122					5																	74981187		2062	4211	6273	SO:0001583	missense	134359				cell cycle	centriole		g.chr5:74981187G>A	AK093098	CCDS47236.1, CCDS47237.1	5q13.3	2013-08-05	2013-08-05	2010-03-26	ENSG00000152359	ENSG00000152359			26658	protein-coding gene	gene with protein product			"chromosome 5 open reading frame 37", "POC5 centriolar protein homolog (Chlamydomonas)"	C5orf37		19349582	Standard	NM_152408		Approved	FLJ35779, MGC120442, MGC120443, MGC120444, hPOC5	uc003keh.4	Q8NA72	OTTHUMG00000162487	ENST00000428202.2:c.1252C>T	5.37:g.74981187G>A	ENSP00000410216:p.Pro418Ser					POC5_ENST00000380475.2_Missense_Mutation_p.P301S|POC5_ENST00000514838.2_Missense_Mutation_p.P390S|POC5_ENST00000510798.1_Missense_Mutation_p.P301S|POC5_ENST00000446329.2_Missense_Mutation_p.P393S	p.P418S	NM_001099271.1	NP_001092741.1	Q8NA72	POC5_HUMAN			10	1441	-			418					B4DJG7|Q494X7|Q494X9|Q6P085	Missense_Mutation	SNP	ENST00000428202.2	37	c.1252C>T	CCDS47236.1	.	.	.	.	.	.	.	.	.	.	G	7.191	0.591496	0.13812	.	.	ENSG00000152359	ENST00000428202;ENST00000514838;ENST00000380475;ENST00000510798;ENST00000446329	T;T;T;T;T	0.43294	1.88;1.49;0.95;0.95;1.87	4.36	2.56	0.30785	.	1.301750	0.04493	N	0.379868	T	0.60090	0.2242	M	0.74881	2.28	0.09310	N	1	B;D;D	0.67145	0.009;0.996;0.99	B;D;P	0.75484	0.005;0.986;0.842	T	0.44544	-0.9321	10	0.11182	T	0.66	-3.7796	6.2012	0.20577	0.1006:0.1877:0.7117:0.0	.	301;418;393	Q8NA72-2;Q8NA72;Q8NA72-3	.;POC5_HUMAN;.	S	418;390;301;301;393	ENSP00000410216:P418S;ENSP00000420971:P390S;ENSP00000369842:P301S;ENSP00000426796:P301S;ENSP00000399481:P393S	ENSP00000369842:P301S	P	-	1	0	POC5	75016943	0.002000	0.14202	0.001000	0.08648	0.108000	0.19459	0.063000	0.14410	0.760000	0.33108	-0.291000	0.09656	CCA		0.552	POC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369124.1	NM_152408		19	36	0	0	0	1	0	19	36					A	74981187	G	A	74981187	3	1	435	1	0	0	0	0	1	0	0	0	12177	1203	42	3	487	3	POC5	5	74981187	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	304291	74981187	105934073	2691	23616											
IQGAP2	10788	broad.mit.edu	37	chr5	75989260	75989260	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cttagagacaccagcaactgCgcaacaggtaatttgacttt	13	10	8	10	1	0	2	0	1	0	1	0	3	0	2	1	1	4	3	1	1	4	4	rs148122303	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:75989260C>T	ENST00000274364.6	+	31	4283	c.3986C>T	c.(3985-3987)gCg>gTg	p.A1329V	IQGAP2_ENST00000502745.1_Missense_Mutation_p.A825V|IQGAP2_ENST00000379730.3_Missense_Mutation_p.A831V|IQGAP2_ENST00000396234.3_Missense_Mutation_p.A825V|CTD-2384B11.2_ENST00000507514.1_RNA	NM_006633.2	NP_006624	Q13576	IQGA2_HUMAN	IQ motif containing GTPase activating protein 2	1329					negative regulation of catalytic activity (GO:0043086)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|microvillus (GO:0005902)	actin binding (GO:0003779)|GTPase inhibitor activity (GO:0005095)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|Ras GTPase activator activity (GO:0005099)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(23)|ovary(6)|prostate(1)|skin(3)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	68		all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149)		all cancers(79;1.38e-36)		CCAGCAACTGCGCAACAGGTA	0.363													C|||	2	0.000399361	0	0	5008	,	,		19012	0		0.002	False		,,,				2504	0					ENST00000274364.6																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(23)|ovary(6)|prostate(1)|skin(3)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	68						c.(3985-3987)gCg>gTg		IQ motif containing GTPase activating protein 2		C	VAL/ALA	1,4405	2.1+/-5.4	0,1,2202	89	83	85		3986	-0.9	0	5	dbSNP_134	85	0,8600		0,0,4300	yes	missense	IQGAP2	NM_006633.2	64	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign	1329/1576	75989260	1,13005	2203	4300	6503	SO:0001583	missense	10788				small GTPase mediated signal transduction	actin cytoskeleton	actin binding|calmodulin binding|GTPase inhibitor activity|Ras GTPase activator activity	g.chr5:75989260C>T	U51903	CCDS34188.1, CCDS68897.1, CCDS68898.1, CCDS75262.1	5q	2008-07-18			ENSG00000145703	ENSG00000145703			6111	protein-coding gene	gene with protein product		605401				8756646	Standard	XM_005248409		Approved		uc003kek.3	Q13576	OTTHUMG00000162432	ENST00000274364.6:c.3986C>T	5.37:g.75989260C>T	ENSP00000274364:p.Ala1329Val					IQGAP2_ENST00000396234.3_Missense_Mutation_p.A825V|IQGAP2_ENST00000502745.1_Missense_Mutation_p.A825V|CTD-2384B11.2_ENST00000507514.1_RNA|IQGAP2_ENST00000379730.3_Missense_Mutation_p.A831V	p.A1329V	NM_006633.2	NP_006624.2	Q13576	IQGA2_HUMAN		all cancers(79;1.38e-36)	31	4283	+		all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149)	1329					A8K4V1|B7Z8A4|J3KR91	Missense_Mutation	SNP	ENST00000274364.6	37	c.3986C>T	CCDS34188.1	2	9.157509157509158E-4	0	0.0	0	0.0	0	0.0	2	0.002638522427440633	C	11.70	1.715619	0.30413	2.27E-4	0.0	ENSG00000145703	ENST00000274364;ENST00000379730;ENST00000505766;ENST00000396234;ENST00000502745	T;T;T;T;T	0.44881	0.91;0.91;0.91;0.91;0.91	5.97	-0.95	0.10372	.	1.162360	0.06359	N	0.711243	T	0.27697	0.0681	L	0.33485	1.01	0.09310	N	1	B;B;B	0.12630	0.001;0.006;0.003	B;B;B	0.10450	0.005;0.005;0.002	T	0.21211	-1.0252	10	0.29301	T	0.29	0.4173	3.2081	0.06672	0.5214:0.1994:0.1541:0.125	.	831;825;1329	F5H7S7;Q13576-2;Q13576	.;.;IQGA2_HUMAN	V	1329;831;1279;825;825	ENSP00000274364:A1329V;ENSP00000442313:A831V;ENSP00000421097:A1279V;ENSP00000379535:A825V;ENSP00000426027:A825V	ENSP00000274364:A1329V	A	+	2	0	IQGAP2	76025016	0.000000	0.05858	0.001000	0.08648	0.876000	0.50452	0.536000	0.23129	-0.186000	0.10533	0.655000	0.94253	GCG		0.363	IQGAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368877.1	NM_006633		5	49	0	0	0	1	0	5	49					T	75989260	C	T	75989260	3	4	435	1	0	0	0	0	1	0	0	0	7815	768	27	1	4108	1	IQGAP2	5	75989260	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	1008073	75989260	104926000	2692	23617											
F2RL1	2150	broad.mit.edu	37	chr5	76129237	76129237	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atgtgctgatgatcagaatgCtgcgatcttctgccatggat	9	13	11	8	1	3	3	1	2	2	1	3	5	3	4	1	1	4	2	1	1	1	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:76129237C>A	ENST00000296677.4	+	2	1011	c.805C>A	c.(805-807)Ctg>Atg	p.L269M		NM_005242.4	NP_005233	P55085	PAR2_HUMAN	coagulation factor II (thrombin) receptor-like 1	269					blood coagulation (GO:0007596)|chemokine (C-C motif) ligand 2 secretion (GO:0035926)|chemokine secretion (GO:0090195)|defense response to virus (GO:0051607)|establishment of endothelial barrier (GO:0061028)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interferon-gamma secretion (GO:0072643)|interleukin-1 beta secretion (GO:0050702)|interleukin-10 secretion (GO:0072608)|leukocyte migration (GO:0050900)|leukocyte proliferation (GO:0070661)|mature dendritic cell differentiation (GO:0097029)|negative regulation of chemokine secretion (GO:0090198)|negative regulation of JNK cascade (GO:0046329)|negative regulation of toll-like receptor 3 signaling pathway (GO:0034140)|negative regulation of tumor necrosis factor-mediated signaling pathway (GO:0010804)|neutrophil activation (GO:0042119)|positive regulation of actin filament depolymerization (GO:0030836)|positive regulation of cell migration (GO:0030335)|positive regulation of chemotaxis (GO:0050921)|positive regulation of cytokine secretion involved in immune response (GO:0002741)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of eosinophil degranulation (GO:0043311)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of glomerular filtration (GO:0003104)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-6 secretion (GO:2000778)|positive regulation of interleukin-8 secretion (GO:2000484)|positive regulation of JNK cascade (GO:0046330)|positive regulation of leukocyte chemotaxis (GO:0002690)|positive regulation of neutrophil mediated killing of gram-negative bacterium (GO:0070963)|positive regulation of phagocytosis, engulfment (GO:0060100)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of pseudopodium assembly (GO:0031274)|positive regulation of renin secretion into blood stream (GO:1900135)|positive regulation of Rho protein signal transduction (GO:0035025)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of toll-like receptor 2 signaling pathway (GO:0034137)|positive regulation of toll-like receptor 3 signaling pathway (GO:0034141)|positive regulation of toll-like receptor 4 signaling pathway (GO:0034145)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasodilation (GO:0045909)|regulation of blood coagulation (GO:0030193)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of JNK cascade (GO:0046328)|T cell activation involved in immune response (GO:0002286)	Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|pseudopodium (GO:0031143)	G-protein alpha-subunit binding (GO:0001965)|G-protein beta-subunit binding (GO:0031681)|G-protein coupled receptor activity (GO:0004930)|receptor activity (GO:0004872)|receptor binding (GO:0005102)|thrombin receptor activity (GO:0015057)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	13		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)		OV - Ovarian serous cystadenocarcinoma(54;7.7e-51)|Epithelial(54;2.77e-45)|all cancers(79;3.47e-41)		GATCAGAATGCTGCGATCTTC	0.498																																						ENST00000296677.4																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	13						c.(805-807)Ctg>Atg		coagulation factor II (thrombin) receptor-like 1							138	132	134					5																	76129237		2203	4300	6503	SO:0001583	missense	2150				blood coagulation|elevation of cytosolic calcium ion concentration|positive regulation of leukocyte chemotaxis|positive regulation of positive chemotaxis|regulation of blood coagulation	Golgi apparatus|integral to plasma membrane	receptor binding|thrombin receptor activity	g.chr5:76129237C>A	BC018130	CCDS4033.1	5q13	2012-08-08			ENSG00000164251	ENSG00000164251		"GPCR / Class A : Protease activated receptors"	3538	protein-coding gene	gene with protein product	"proteinase-activated receptor-2"	600933		GPR11		7937743, 7556175	Standard	NM_005242		Approved	PAR2	uc003keo.3	P55085	OTTHUMG00000102118	ENST00000296677.4:c.805C>A	5.37:g.76129237C>A	ENSP00000296677:p.Leu269Met						p.L269M	NM_005242.4	NP_005233.3	P55085	PAR2_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;7.7e-51)|Epithelial(54;2.77e-45)|all cancers(79;3.47e-41)	2	1011	+		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)	269					Q13317|Q13346|Q53XJ8	Missense_Mutation	SNP	ENST00000296677.4	37	c.805C>A	CCDS4033.1	.	.	.	.	.	.	.	.	.	.	C	11.50	1.656641	0.29425	.	.	ENSG00000164251	ENST00000296677	T	0.51574	0.7	5.44	3.68	0.42216	GPCR, rhodopsin-like superfamily (1);	0.136550	0.51477	D	0.000083	T	0.76744	0.4030	H	0.95884	3.735	0.58432	D	0.999993	D	0.89917	1.0	D	0.97110	1.0	T	0.82157	-0.0596	9	.	.	.	-20.7769	12.0904	0.53722	0.0:0.8607:0.0:0.1393	.	269	P55085	PAR2_HUMAN	M	269	ENSP00000296677:L269M	.	L	+	1	2	F2RL1	76164993	0.998000	0.40836	0.005000	0.12908	0.016000	0.09150	4.006000	0.57083	0.688000	0.31529	-0.126000	0.14955	CTG		0.498	F2RL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219957.2			41	71	1	0	2.87052e-16	1	3.15041e-16	41	71					A	76129237	C	A	76129237	3	1	435	1	0	0	0	0	1	0	0	0	5344	796	28	5	811	5	F2RL1	5	76129237	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	139977	76129237	104786023	2693	23618											
CRHBP	1393	broad.mit.edu	37	chr5	76259283	76259283	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgctacccctttcatggccCgggtgaggtatttctttgat	5	15	10	11	1	2	2	1	2	1	0	2	2	2	2	3	3	2	2	3	3	2	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:76259283C>T	ENST00000274368.4	+	6	1231	c.809C>T	c.(808-810)cCg>cTg	p.P270L	CRHBP_ENST00000514258.1_3'UTR	NM_001882.3	NP_001873.2	P24387	CRHBP_HUMAN	corticotropin releasing hormone binding protein	270					behavioral response to ethanol (GO:0048149)|cellular response to calcium ion (GO:0071277)|cellular response to cAMP (GO:0071320)|cellular response to cocaine (GO:0071314)|cellular response to drug (GO:0035690)|cellular response to estradiol stimulus (GO:0071392)|cellular response to estrogen stimulus (GO:0071391)|cellular response to gonadotropin-releasing hormone (GO:0097211)|cellular response to potassium ion (GO:0035865)|cellular response to stress (GO:0033554)|cellular response to tumor necrosis factor (GO:0071356)|female pregnancy (GO:0007565)|hormone metabolic process (GO:0042445)|hormone-mediated signaling pathway (GO:0009755)|inflammatory response (GO:0006954)|learning or memory (GO:0007611)|maternal aggressive behavior (GO:0002125)|negative regulation of corticotropin secretion (GO:0051460)|negative regulation of corticotropin-releasing hormone receptor activity (GO:1900011)|regulated secretory pathway (GO:0045055)|regulation of corticotropin secretion (GO:0051459)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|signal transduction (GO:0007165)|synaptic transmission, dopaminergic (GO:0001963)	axon terminus (GO:0043679)|dendrite (GO:0030425)|dense core granule (GO:0031045)|extracellular space (GO:0005615)|intracellular (GO:0005622)|microtubule (GO:0005874)|multivesicular body (GO:0005771)|nucleus (GO:0005634)|perikaryon (GO:0043204)|secondary lysosome (GO:0005767)|secretory granule (GO:0030141)|varicosity (GO:0043196)	corticotropin-releasing hormone binding (GO:0051424)|peptide binding (GO:0042277)			kidney(3)|large_intestine(4)|lung(6)|prostate(1)|skin(2)	16		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)		OV - Ovarian serous cystadenocarcinoma(54;2.17e-51)|Epithelial(54;8.79e-46)|all cancers(79;2.49e-41)		TTTCATGGCCCGGGTGAGGTA	0.448																																						ENST00000274368.4																			0				kidney(3)|large_intestine(4)|lung(6)|prostate(1)|skin(2)	16						c.(808-810)cCg>cTg		corticotropin releasing hormone binding protein							162	163	162					5																	76259283		2203	4300	6503	SO:0001583	missense	1393				female pregnancy|learning or memory|signal transduction	soluble fraction		g.chr5:76259283C>T	X58022	CCDS4034.1	5q	2008-07-18	2001-11-28		ENSG00000145708	ENSG00000145708			2356	protein-coding gene	gene with protein product		122559	"corticotropin releasing hormone-binding protein"			8198617	Standard	NM_001882		Approved	CRF-BP, CRFBP	uc003ker.3	P24387	OTTHUMG00000102133	ENST00000274368.4:c.809C>T	5.37:g.76259283C>T	ENSP00000274368:p.Pro270Leu					CRHBP_ENST00000514258.1_3'UTR	p.P270L	NM_001882.3	NP_001873.2	P24387	CRHBP_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;2.17e-51)|Epithelial(54;8.79e-46)|all cancers(79;2.49e-41)	6	1231	+		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)	270					Q53F32|Q6FHT5	Missense_Mutation	SNP	ENST00000274368.4	37	c.809C>T	CCDS4034.1	.	.	.	.	.	.	.	.	.	.	C	16.46	3.130764	0.56828	.	.	ENSG00000145708	ENST00000274368	.	.	.	5.67	5.67	0.87782	.	0.281327	0.41396	D	0.000881	T	0.58850	0.2151	L	0.49350	1.555	0.80722	D	1	B	0.31193	0.312	B	0.24155	0.051	T	0.58572	-0.7613	9	0.51188	T	0.08	-0.4274	19.7713	0.96366	0.0:1.0:0.0:0.0	.	270	P24387	CRHBP_HUMAN	L	270	.	ENSP00000274368:P270L	P	+	2	0	CRHBP	76295039	0.952000	0.32445	0.982000	0.44146	0.370000	0.29829	4.012000	0.57131	2.662000	0.90505	0.643000	0.83706	CCG		0.448	CRHBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219972.2	NM_001882		55	87	0	0	0	1	0	55	87					T	76259283	C	T	76259283	3	4	435	1	0	0	0	0	1	0	0	0	3870	652	23	2	831	2	CRHBP	5	76259283	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	130046	76259283	104655977	2694	23619											
DMGDH	29958	broad.mit.edu	37	chr5	78329225	78329225	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accccaccagcgtggattatGccatatctttcaaatacagg	12	10	7	12	1	2	0	1	0	1	0	2	1	2	1	4	2	3	0	4	2	4	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:78329225G>A	ENST00000255189.3	-	8	1228	c.1200C>T	c.(1198-1200)ggC>ggT	p.G400G	DMGDH_ENST00000540686.1_Silent_p.G20G|DMGDH_ENST00000380311.4_Silent_p.G199G	NM_013391.2	NP_037523.2	Q9UI17	M2GD_HUMAN	dimethylglycine dehydrogenase	400					amino-acid betaine catabolic process (GO:0006579)|choline metabolic process (GO:0019695)|glycine catabolic process (GO:0006546)|glycine metabolic process (GO:0006544)	mitochondrial matrix (GO:0005759)	aminomethyltransferase activity (GO:0004047)|dimethylglycine dehydrogenase activity (GO:0047865)|electron carrier activity (GO:0009055)|poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(2)|kidney(2)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	34		all_lung(232;0.000638)|Lung NSC(167;0.00173)|Ovarian(174;0.0262)|Prostate(461;0.192)		OV - Ovarian serous cystadenocarcinoma(54;6.52e-45)|Epithelial(54;5.96e-40)|all cancers(79;3.56e-35)		CGTGGATTATGCCATATCTTT	0.388																																						ENST00000255189.3																			0				breast(2)|endometrium(2)|kidney(2)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	34						c.(1198-1200)ggC>ggT		dimethylglycine dehydrogenase							150	143	145					5																	78329225		2203	4300	6503	SO:0001819	synonymous_variant	29958				choline metabolic process|glycine catabolic process	mitochondrial matrix	aminomethyltransferase activity|dimethylglycine dehydrogenase activity|electron carrier activity	g.chr5:78329225G>A	AF111858	CCDS4044.1	5q14.1	2008-02-05			ENSG00000132837	ENSG00000132837	1.5.99.2		24475	protein-coding gene	gene with protein product		605849				10767172, 11231903	Standard	NM_013391		Approved		uc003kfs.3	Q9UI17	OTTHUMG00000108159	ENST00000255189.3:c.1200C>T	5.37:g.78329225G>A						DMGDH_ENST00000380311.4_Silent_p.G199G|DMGDH_ENST00000540686.1_Silent_p.G20G	p.G400G	NM_013391.2	NP_037523.2	Q9UI17	M2GD_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;6.52e-45)|Epithelial(54;5.96e-40)|all cancers(79;3.56e-35)	8	1228	-		all_lung(232;0.000638)|Lung NSC(167;0.00173)|Ovarian(174;0.0262)|Prostate(461;0.192)	400					B2RBN0|B4E1J9	Silent	SNP	ENST00000255189.3	37	c.1200C>T	CCDS4044.1																																																																																				0.388	DMGDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226963.3	NM_013391		45	47	0	0	0	1	0	45	47					A	78329225	G	A	78329225	2	1	435	1	0	0	0	0	0	0	0	1	4581	1306	46	3		3	DMGDH	5	78329225	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	2069942	78329225	102586035	2695	23620											
BHMT	635	broad.mit.edu	37	chr5	78417174	78417174	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccccggcgagtgtgcagtgcGcctggtgaaagcaggtgatg	7	7	17	10	3	0	2	0	2	0	0	0	3	0	2	3	3	3	2	3	3	1	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:78417174G>A	ENST00000274353.5	+	5	718	c.611G>A	c.(610-612)cGc>cAc	p.R204H	BHMT_ENST00000524080.1_Intron|DMGDH_ENST00000520388.1_5'UTR	NM_001713.2	NP_001704.2	Q93088	BHMT1_HUMAN	betaine--homocysteine S-methyltransferase	204	Hcy-binding. {ECO:0000255|PROSITE- ProRule:PRU00333}.				amino-acid betaine catabolic process (GO:0006579)|amino-acid betaine metabolic process (GO:0006577)|cellular nitrogen compound metabolic process (GO:0034641)|L-methionine salvage (GO:0071267)|protein methylation (GO:0006479)|regulation of homocysteine metabolic process (GO:0050666)|response to organonitrogen compound (GO:0010243)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)	betaine-homocysteine S-methyltransferase activity (GO:0047150)|S-adenosylmethionine-homocysteine S-methyltransferase activity (GO:0008898)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)	29		all_lung(232;0.00051)|Lung NSC(167;0.00131)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;1.88e-45)|Epithelial(54;8.07e-41)|all cancers(79;3.51e-36)	L-Methionine(DB00134)	TGTGCAGTGCGCCTGGTGAAA	0.468																																						ENST00000274353.5																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)	29						c.(610-612)cGc>cAc		betaine--homocysteine S-methyltransferase	L-Methionine(DB00134)						80	72	74					5																	78417174		2203	4300	6503	SO:0001583	missense	635				protein methylation|regulation of homocysteine metabolic process	cytoplasm	betaine-homocysteine S-methyltransferase activity|homocysteine S-methyltransferase activity|zinc ion binding	g.chr5:78417174G>A	BC012616	CCDS4046.1	5q14.1	2012-09-20	2010-04-28		ENSG00000145692	ENSG00000145692	2.1.1.5		1047	protein-coding gene	gene with protein product	"betaine homocysteine methyltransferase"	602888				8798461, 9281325	Standard	NM_001713		Approved	BHMT1	uc003kfu.4	Q93088	OTTHUMG00000108157	ENST00000274353.5:c.611G>A	5.37:g.78417174G>A	ENSP00000274353:p.Arg204His					DMGDH_ENST00000520388.1_5'UTR|BHMT_ENST00000524080.1_Intron	p.R204H	NM_001713.2	NP_001704.2	Q93088	BHMT1_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;1.88e-45)|Epithelial(54;8.07e-41)|all cancers(79;3.51e-36)	5	718	+		all_lung(232;0.00051)|Lung NSC(167;0.00131)|Ovarian(174;0.0261)|Prostate(461;0.191)	204			Hcy-binding.		Q9UNI9	Missense_Mutation	SNP	ENST00000274353.5	37	c.611G>A	CCDS4046.1	.	.	.	.	.	.	.	.	.	.	G	25.0	4.591814	0.86953	.	.	ENSG00000145692	ENST00000274353	T	0.12147	2.71	5.3	5.3	0.74995	Homocysteine S-methyltransferase (4);	0.088987	0.85682	D	0.000000	T	0.38374	0.1038	M	0.90309	3.105	0.80722	D	1	D	0.89917	1.0	D	0.63597	0.916	T	0.37174	-0.9717	10	0.15066	T	0.55	-20.9064	13.1645	0.59562	0.0837:0.0:0.9163:0.0	.	204	Q93088	BHMT1_HUMAN	H	204	ENSP00000274353:R204H	ENSP00000274353:R204H	R	+	2	0	BHMT	78452930	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	5.106000	0.64597	2.637000	0.89404	0.650000	0.86243	CGC		0.468	BHMT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226961.1	NM_001713		19	29	0	0	0	1	0	19	29					A	78417174	G	A	78417174	3	1	435	1	0	0	0	0	1	0	0	0	1425	1087	38	1	629	1	BHMT	5	78417174	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	87949	78417174	102498086	2696	23621											
BHMT	635	broad.mit.edu	37	chr5	78421875	78421875	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cttcccactcacaggagcatCcatcattggtgtgaactgcc	9	10	8	14	0	2	1	2	1	0	0	4	2	4	2	3	2	3	1	3	2	1	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:78421875C>T	ENST00000274353.5	+	6	739	c.632C>T	c.(631-633)tCc>tTc	p.S211F	BHMT_ENST00000524080.1_Missense_Mutation_p.S58F|DMGDH_ENST00000520388.1_Intron	NM_001713.2	NP_001704.2	Q93088	BHMT1_HUMAN	betaine--homocysteine S-methyltransferase	211	Hcy-binding. {ECO:0000255|PROSITE- ProRule:PRU00333}.				amino-acid betaine catabolic process (GO:0006579)|amino-acid betaine metabolic process (GO:0006577)|cellular nitrogen compound metabolic process (GO:0034641)|L-methionine salvage (GO:0071267)|protein methylation (GO:0006479)|regulation of homocysteine metabolic process (GO:0050666)|response to organonitrogen compound (GO:0010243)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)	betaine-homocysteine S-methyltransferase activity (GO:0047150)|S-adenosylmethionine-homocysteine S-methyltransferase activity (GO:0008898)|zinc ion binding (GO:0008270)	p.S211Y(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)	29		all_lung(232;0.00051)|Lung NSC(167;0.00131)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;1.88e-45)|Epithelial(54;8.07e-41)|all cancers(79;3.51e-36)	L-Methionine(DB00134)	ACAGGAGCATCCATCATTGGT	0.493																																						ENST00000274353.5																			1	Substitution - Missense(1)	p.S211Y(1)	large_intestine(1)	breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)	29						c.(631-633)tCc>tTc		betaine--homocysteine S-methyltransferase	L-Methionine(DB00134)						88	85	86					5																	78421875		2203	4300	6503	SO:0001583	missense	635				protein methylation|regulation of homocysteine metabolic process	cytoplasm	betaine-homocysteine S-methyltransferase activity|homocysteine S-methyltransferase activity|zinc ion binding	g.chr5:78421875C>T	BC012616	CCDS4046.1	5q14.1	2012-09-20	2010-04-28		ENSG00000145692	ENSG00000145692	2.1.1.5		1047	protein-coding gene	gene with protein product	"betaine homocysteine methyltransferase"	602888				8798461, 9281325	Standard	NM_001713		Approved	BHMT1	uc003kfu.4	Q93088	OTTHUMG00000108157	ENST00000274353.5:c.632C>T	5.37:g.78421875C>T	ENSP00000274353:p.Ser211Phe					DMGDH_ENST00000520388.1_Intron|BHMT_ENST00000524080.1_Missense_Mutation_p.S58F	p.S211F	NM_001713.2	NP_001704.2	Q93088	BHMT1_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;1.88e-45)|Epithelial(54;8.07e-41)|all cancers(79;3.51e-36)	6	739	+		all_lung(232;0.00051)|Lung NSC(167;0.00131)|Ovarian(174;0.0261)|Prostate(461;0.191)	211			Hcy-binding.		Q9UNI9	Missense_Mutation	SNP	ENST00000274353.5	37	c.632C>T	CCDS4046.1	.	.	.	.	.	.	.	.	.	.	C	16.35	3.097340	0.56075	.	.	ENSG00000145692	ENST00000274353;ENST00000524080;ENST00000436224	T;T	0.30981	2.7;1.51	5.66	5.66	0.87406	Homocysteine S-methyltransferase (4);	0.300521	0.43416	D	0.000572	T	0.53334	0.1790	M	0.68952	2.095	0.54753	D	0.999983	D;P	0.60575	0.988;0.909	P;B	0.59357	0.856;0.419	T	0.53258	-0.8464	10	0.87932	D	0	-9.5325	20.1253	0.97977	0.0:1.0:0.0:0.0	.	58;211	E5RJH0;Q93088	.;BHMT1_HUMAN	F	211;58;58	ENSP00000274353:S211F;ENSP00000428240:S58F	ENSP00000274353:S211F	S	+	2	0	BHMT	78457631	0.991000	0.36638	0.985000	0.45067	0.290000	0.27261	4.645000	0.61404	2.832000	0.97577	0.655000	0.94253	TCC		0.493	BHMT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226961.1	NM_001713		18	27	0	0	0	1	0	18	27					T	78421875	C	T	78421875	3	4	435	1	0	0	0	0	1	0	0	0	1425	855	30	3	654	3	BHMT	5	78421875	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	4701	78421875	102493385	2697	23622											
HOMER1	9456	broad.mit.edu	37	chr5	78746842	78746842	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	atgatgctcagaggagaatcCcaatccataaacggtgtttg	13	10	10	8	1	1	3	1	1	0	2	3	4	3	3	2	2	2	2	2	2	4	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:78746842C>T	ENST00000334082.6	-	3	1707	c.265G>A	c.(265-267)Gga>Aga	p.G89R	HOMER1_ENST00000508576.1_Missense_Mutation_p.G89R|HOMER1_ENST00000282260.6_Missense_Mutation_p.G89R|HOMER1_ENST00000535690.1_Intron	NM_004272.3	NP_004263.1	Q86YM7	HOME1_HUMAN	homer homolog 1 (Drosophila)	89	WH1. {ECO:0000255|PROSITE- ProRule:PRU00410}.				behavioral response to cocaine (GO:0048148)|chemical homeostasis within a tissue (GO:0048875)|circadian rhythm (GO:0007623)|phospholipase C-activating G-protein coupled glutamate receptor signaling pathway (GO:0007206)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of signal transduction (GO:0009967)|protein localization to synapse (GO:0035418)|regulation of calcium ion import (GO:0090279)|regulation of cation channel activity (GO:2001257)|regulation of store-operated calcium entry (GO:2001256)|response to calcium ion (GO:0051592)|response to nicotine (GO:0035094)|skeletal muscle contraction (GO:0003009)|skeletal muscle fiber development (GO:0048741)|synaptic transmission (GO:0007268)	apical part of cell (GO:0045177)|axon (GO:0030424)|cell junction (GO:0030054)|costamere (GO:0043034)|dendritic shaft (GO:0043198)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|neuronal postsynaptic density (GO:0097481)|postsynaptic membrane (GO:0045211)|Z disc (GO:0030018)	ion channel binding (GO:0044325)|signaling adaptor activity (GO:0035591)			endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|prostate(2)|skin(1)	14		Lung NSC(167;0.00131)|all_lung(232;0.00151)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;1.87e-44)|Epithelial(54;7.07e-41)|all cancers(79;5.5e-36)		GAGGAGAATCCCAATCCATAA	0.348																																						ENST00000334082.6																			0				endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|prostate(2)|skin(1)	14						c.(265-267)Gga>Aga		homer homolog 1 (Drosophila)							105	96	98					5																	78746842		1822	4082	5904	SO:0001583	missense	9456				activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic density|postsynaptic membrane		g.chr5:78746842C>T	BC015502	CCDS43335.1, CCDS64188.1, CCDS64189.1	5q14.2	2008-02-05			ENSG00000152413	ENSG00000152413			17512	protein-coding gene	gene with protein product		604798				9808459, 9808458	Standard	NM_004272		Approved	Ves-1, SYN47, HOMER-1B	uc003kfy.4	Q86YM7	OTTHUMG00000134278	ENST00000334082.6:c.265G>A	5.37:g.78746842C>T	ENSP00000334382:p.Gly89Arg					HOMER1_ENST00000282260.6_Missense_Mutation_p.G89R|HOMER1_ENST00000535690.1_Intron|HOMER1_ENST00000508576.1_Missense_Mutation_p.G89R	p.G89R	NM_004272.3	NP_004263.1	Q86YM7	HOME1_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;1.87e-44)|Epithelial(54;7.07e-41)|all cancers(79;5.5e-36)	3	1707	-		Lung NSC(167;0.00131)|all_lung(232;0.00151)|Ovarian(174;0.0261)|Prostate(461;0.191)	89			WH1.		B2R688|O96003|Q86YM5	Missense_Mutation	SNP	ENST00000334082.6	37	c.265G>A	CCDS43335.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.086283	0.76642	.	.	ENSG00000152413	ENST00000334082;ENST00000508576;ENST00000282260	D;D;D	0.98732	-5.1;-5.1;-5.1	5.78	5.78	0.91487	EVH1 (3);Pleckstrin homology-type (1);	0.000000	0.85682	D	0.000000	D	0.99312	0.9759	M	0.89214	3.015	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.99297	1.0900	10	0.87932	D	0	-21.2781	20.3681	0.98887	0.0:1.0:0.0:0.0	.	89;89;89	Q86YM7-2;Q86YM7-3;Q86YM7	.;.;HOME1_HUMAN	R	89	ENSP00000334382:G89R;ENSP00000426651:G89R;ENSP00000282260:G89R	ENSP00000282260:G89R	G	-	1	0	HOMER1	78782598	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.776000	0.85560	2.890000	0.99128	0.655000	0.94253	GGA		0.348	HOMER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258856.1	NM_004272		19	27	0	0	0	1	0	19	27					T	78746842	C	T	78746842	3	4	435	1	0	0	0	0	1	0	0	0	7278	632	22	3	827	3	HOMER1	5	78746842	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	324967	78746842	102168418	2698	23623											
CMYA5	202333	broad.mit.edu	37	chr5	79028741	79028741	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctcttatcactcctgtagatCgtccagtcttaacaaaagta	12	13	5	11	1	3	1	1	0	2	1	6	1	5	1	2	0	1	2	2	0	6	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:79028741C>T	ENST00000446378.2	+	2	4184	c.4153C>T	c.(4153-4155)Cgt>Tgt	p.R1385C		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	1385					negative regulation of calcineurin-NFAT signaling cascade (GO:0070885)|negative regulation of protein phosphatase type 2B activity (GO:0032513)|regulation of skeletal muscle adaptation (GO:0014733)	costamere (GO:0043034)				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		TCCTGTAGATCGTCCAGTCTT	0.398																																						ENST00000446378.2																			0				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128						c.(4153-4155)Cgt>Tgt		cardiomyopathy associated 5							37	35	36					5																	79028741		1866	4096	5962	SO:0001583	missense	202333					perinuclear region of cytoplasm		g.chr5:79028741C>T	AW755254, AL831986	CCDS47238.1	5q14.1	2013-02-11			ENSG00000164309	ENSG00000164309		"Tripartite motif containing / Tripartite motif containing", "A-kinase anchor proteins", "Fibronectin type III domain containing"	14305	protein-coding gene	gene with protein product	"genethonin-3", "tripartite motif-containing 76"	612193	"chromosome 5 open reading frame 10"	C5orf10		14688250	Standard	NM_153610		Approved	myospryn, SPRYD2, DKFZp451G223, TRIM76	uc003kgc.3	Q8N3K9	OTTHUMG00000162548	ENST00000446378.2:c.4153C>T	5.37:g.79028741C>T	ENSP00000394770:p.Arg1385Cys						p.R1385C	NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)	2	4184	+		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)	1385					A0PJB7|Q05CT4|Q2NKX1|Q2T9G9|Q69YQ8|Q69YQ9|Q6P517|Q6P5U3|Q7Z4I1|Q86T34|Q86T49|Q8N3S4|Q8N3S7|Q8NAG8|Q9UK88	Missense_Mutation	SNP	ENST00000446378.2	37	c.4153C>T	CCDS47238.1	.	.	.	.	.	.	.	.	.	.	C	1.390	-0.580971	0.03854	.	.	ENSG00000164309	ENST00000446378	T	0.04317	3.65	6.17	-3.17	0.05202	.	1.039230	0.07582	N	0.920437	T	0.06050	0.0157	N	0.22421	0.69	0.09310	N	1	D	0.69078	0.997	P	0.52672	0.706	T	0.37430	-0.9706	10	0.66056	D	0.02	.	7.1384	0.25541	0.0:0.3542:0.2287:0.4171	.	1385	Q8N3K9	CMYA5_HUMAN	C	1385	ENSP00000394770:R1385C	ENSP00000394770:R1385C	R	+	1	0	CMYA5	79064497	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.637000	0.05459	-0.494000	0.06669	-0.727000	0.03589	CGT		0.398	CMYA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369497.1	NM_153610		7	14	0	0	0	1	0	7	14					T	79028741	C	T	79028741	3	4	435	1	0	0	0	0	1	0	0	0	3590	884	31	2	4159	2	CMYA5	5	79028741	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	281899	79028741	101886519	2699	23624											
CMYA5	202333	broad.mit.edu	37	chr5	79031252	79031252	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctgtgatagatcctgaaggtAcaattcccaccaattttaat	13	13	6	9	0	0	3	0	2	0	1	2	3	2	3	3	1	1	1	3	1	6	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:79031252A>G	ENST00000446378.2	+	2	6695	c.6664A>G	c.(6664-6666)Aca>Gca	p.T2222A		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	2222					negative regulation of calcineurin-NFAT signaling cascade (GO:0070885)|negative regulation of protein phosphatase type 2B activity (GO:0032513)|regulation of skeletal muscle adaptation (GO:0014733)	costamere (GO:0043034)				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		TCCTGAAGGTACAATTCCCAC	0.393																																						ENST00000446378.2																			0				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128						c.(6664-6666)Aca>Gca		cardiomyopathy associated 5							129	126	127					5																	79031252		1867	4105	5972	SO:0001583	missense	202333					perinuclear region of cytoplasm		g.chr5:79031252A>G	AW755254, AL831986	CCDS47238.1	5q14.1	2013-02-11			ENSG00000164309	ENSG00000164309		"Tripartite motif containing / Tripartite motif containing", "A-kinase anchor proteins", "Fibronectin type III domain containing"	14305	protein-coding gene	gene with protein product	"genethonin-3", "tripartite motif-containing 76"	612193	"chromosome 5 open reading frame 10"	C5orf10		14688250	Standard	NM_153610		Approved	myospryn, SPRYD2, DKFZp451G223, TRIM76	uc003kgc.3	Q8N3K9	OTTHUMG00000162548	ENST00000446378.2:c.6664A>G	5.37:g.79031252A>G	ENSP00000394770:p.Thr2222Ala						p.T2222A	NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)	2	6695	+		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)	2222					A0PJB7|Q05CT4|Q2NKX1|Q2T9G9|Q69YQ8|Q69YQ9|Q6P517|Q6P5U3|Q7Z4I1|Q86T34|Q86T49|Q8N3S4|Q8N3S7|Q8NAG8|Q9UK88	Missense_Mutation	SNP	ENST00000446378.2	37	c.6664A>G	CCDS47238.1	.	.	.	.	.	.	.	.	.	.	A	4.035	0.003981	0.07866	.	.	ENSG00000164309	ENST00000446378	T	0.17213	2.29	6.16	-5.84	0.02318	.	1.492850	0.04002	N	0.296595	T	0.07503	0.0189	N	0.17082	0.46	0.09310	N	1	B	0.10296	0.003	B	0.08055	0.003	T	0.29397	-1.0013	10	0.13470	T	0.59	.	2.5534	0.04754	0.2455:0.2647:0.3707:0.1191	.	2222	Q8N3K9	CMYA5_HUMAN	A	2222	ENSP00000394770:T2222A	ENSP00000394770:T2222A	T	+	1	0	CMYA5	79067008	0.000000	0.05858	0.000000	0.03702	0.021000	0.10359	-2.123000	0.01319	-0.835000	0.04234	0.528000	0.53228	ACA		0.393	CMYA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369497.1	NM_153610		43	48	0	0	0	1	0	43	48					G	79031252	A	G	79031252	3	3	435	1	0	0	0	0	1	0	0	0	3590	391	14	4	6670	4	CMYA5	5	79031252	Missense_Mutation	SNP	A	TCGA-XK-AAIW-01A-11D-A41K-08	2511	79031252	101884008	2700	23625											
THBS4	7060	broad.mit.edu	37	chr5	79378293	79378293	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcaccatagacaccacaatgCgtggaggccgacttggcgtt	10	8	11	12	3	1	1	1	0	0	1	1	3	1	2	3	3	1	1	3	3	2	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:79378293C>T	ENST00000350881.2	+	21	2939	c.2749C>T	c.(2749-2751)Cgt>Tgt	p.R917C	THBS4_ENST00000511733.1_Missense_Mutation_p.R826C|CTD-2201I18.1_ENST00000503007.1_RNA|THBS4_ENST00000504720.1_3'UTR|CTD-2201I18.1_ENST00000514042.1_RNA	NM_003248.4	NP_003239.2	P35443	TSP4_HUMAN	thrombospondin 4	917	TSP C-terminal. {ECO:0000255|PROSITE- ProRule:PRU00635}.				behavioral response to pain (GO:0048266)|endothelial cell-cell adhesion (GO:0071603)|myoblast migration (GO:0051451)|negative regulation of angiogenesis (GO:0016525)|positive regulation of cell division (GO:0051781)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|regulation of tissue remodeling (GO:0034103)|response to endoplasmic reticulum stress (GO:0034976)|response to unfolded protein (GO:0006986)|tissue remodeling (GO:0048771)	basement membrane (GO:0005604)|endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|sarcoplasmic reticulum (GO:0016529)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)|integrin binding (GO:0005178)			breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|stomach(3)	34		Lung NSC(167;0.00328)|all_lung(232;0.00355)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;6.3e-45)|Epithelial(54;1.77e-39)|all cancers(79;3.2e-34)		CACCACAATGCGTGGAGGCCG	0.512																																						ENST00000350881.2																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|stomach(3)	34						c.(2749-2751)Cgt>Tgt		thrombospondin 4							146	125	132					5																	79378293		2203	4300	6503	SO:0001583	missense	7060				endothelial cell-cell adhesion|myoblast migration|negative regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of neutrophil chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation	basement membrane|extracellular space	calcium ion binding|heparin binding|integrin binding|structural molecule activity	g.chr5:79378293C>T		CCDS4049.1	5q13	2008-05-15			ENSG00000113296	ENSG00000113296			11788	protein-coding gene	gene with protein product		600715				7852353	Standard	NM_003248		Approved		uc021yaw.1	P35443	OTTHUMG00000108173	ENST00000350881.2:c.2749C>T	5.37:g.79378293C>T	ENSP00000339730:p.Arg917Cys					CTD-2201I18.1_ENST00000514042.1_RNA|THBS4_ENST00000504720.1_3'UTR|THBS4_ENST00000511733.1_Missense_Mutation_p.R826C	p.R917C	NM_003248.4	NP_003239.2	P35443	TSP4_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;6.3e-45)|Epithelial(54;1.77e-39)|all cancers(79;3.2e-34)	21	2939	+		Lung NSC(167;0.00328)|all_lung(232;0.00355)|Ovarian(174;0.0261)	917			TSP C-terminal.		B2R909|Q86TG2	Missense_Mutation	SNP	ENST00000350881.2	37	c.2749C>T	CCDS4049.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.391782	0.83011	.	.	ENSG00000113296	ENST00000350881;ENST00000511733	D;D	0.95724	-3.79;-3.79	4.84	4.84	0.62591	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Thrombospondin, C-terminal (2);	0.000000	0.85682	D	0.000000	D	0.97629	0.9223	M	0.77103	2.36	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.98212	1.0473	10	0.87932	D	0	-16.9165	18.5078	0.90904	0.0:1.0:0.0:0.0	.	917	P35443	TSP4_HUMAN	C	917;826	ENSP00000339730:R917C;ENSP00000422298:R826C	ENSP00000339730:R917C	R	+	1	0	THBS4	79414049	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.086000	0.71352	2.677000	0.91161	0.655000	0.94253	CGT		0.512	THBS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226977.1			14	62	0	0	0	1	0	14	62					T	79378293	C	T	79378293	3	4	435	1	0	0	0	0	1	0	0	0	15853	768	27	1	2831	1	THBS4	5	79378293	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	347041	79378293	101536967	2701	23626											
ZFYVE16	9765	broad.mit.edu	37	chr5	79733372	79733372	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atgtggcagtcataactgccGcagaatgtttaaaagaagag	15	9	11	6	1	1	3	1	0	0	3	1	3	1	3	1	1	2	3	1	1	5	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:79733372G>A	ENST00000338008.5	+	3	1048	c.868G>A	c.(868-870)Gca>Aca	p.A290T	ZFYVE16_ENST00000505560.1_Missense_Mutation_p.A290T|ZFYVE16_ENST00000510158.1_Missense_Mutation_p.A290T	NM_001284236.1|NM_014733.3	NP_001271165.1|NP_055548	Q7Z3T8	ZFY16_HUMAN	zinc finger, FYVE domain containing 16	290					BMP signaling pathway (GO:0030509)|endosomal transport (GO:0016197)|protein targeting to lysosome (GO:0006622)|regulation of endocytosis (GO:0030100)|signal transduction (GO:0007165)|vesicle organization (GO:0016050)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|early endosome membrane (GO:0031901)|intracellular membrane-bounded organelle (GO:0043231)	1-phosphatidylinositol binding (GO:0005545)|metal ion binding (GO:0046872)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|protein transporter activity (GO:0008565)			breast(4)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|liver(1)|lung(6)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Lung NSC(167;0.00428)|all_lung(232;0.00455)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;1.6e-46)|Epithelial(54;2.02e-41)|all cancers(79;5.05e-36)		CATAACTGCCGCAGAATGTTT	0.393																																					Melanoma(150;1452 1854 16018 17851 37292)	ENST00000338008.5																			0				breast(4)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|liver(1)|lung(6)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51						c.(868-870)Gca>Aca		zinc finger, FYVE domain containing 16																																				SO:0001583	missense	9765				BMP signaling pathway|endosome transport|protein targeting to lysosome|regulation of endocytosis|vesicle organization	early endosome membrane	1-phosphatidylinositol binding|metal ion binding|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|protein transporter activity	g.chr5:79733372G>A	AB002303	CCDS4050.1	5q14.1	2012-09-20			ENSG00000039319	ENSG00000039319		"Zinc fingers, FYVE domain containing", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	20756	protein-coding gene	gene with protein product	"endofin", "protein phosphatase 1, regulatory subunit 69"	608880				11546807	Standard	NM_014733		Approved	KIAA0305, PPP1R69	uc003kgq.4	Q7Z3T8	OTTHUMG00000108178	ENST00000338008.5:c.868G>A	5.37:g.79733372G>A	ENSP00000337159:p.Ala290Thr					ZFYVE16_ENST00000510158.1_Missense_Mutation_p.A290T|ZFYVE16_ENST00000505560.1_Missense_Mutation_p.A290T	p.A290T	NM_014733.3	NP_055548.3	Q7Z3T8	ZFY16_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;1.6e-46)|Epithelial(54;2.02e-41)|all cancers(79;5.05e-36)	3	1048	+		Lung NSC(167;0.00428)|all_lung(232;0.00455)|Ovarian(174;0.0261)	290					O15023|Q5H9U2|Q7LAU7|Q86T69|Q8N5L3|Q8NEK3	Missense_Mutation	SNP	ENST00000338008.5	37	c.868G>A	CCDS4050.1	.	.	.	.	.	.	.	.	.	.	G	0.003	-2.412893	0.00191	.	.	ENSG00000039319	ENST00000338008;ENST00000510158;ENST00000505560	T;T;T	0.36520	1.25;1.25;1.25	5.09	-5.77	0.02369	.	0.949724	0.08744	N	0.900046	T	0.09555	0.0235	N	0.01874	-0.695	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.06405	0.002;0.001	T	0.36335	-0.9752	10	0.02654	T	1	-3.2228	7.1632	0.25675	0.3432:0.3185:0.3382:0.0	.	290;290	Q7Z3T8-3;Q7Z3T8	.;ZFY16_HUMAN	T	290	ENSP00000337159:A290T;ENSP00000423663:A290T;ENSP00000426848:A290T	ENSP00000337159:A290T	A	+	1	0	ZFYVE16	79769128	0.000000	0.05858	0.000000	0.03702	0.017000	0.09413	-0.676000	0.05221	-0.949000	0.03663	-0.373000	0.07131	GCA		0.393	ZFYVE16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226982.2	NM_014733		40	40	0	0	0	1	0	40	40					A	79733372	G	A	79733372	3	1	435	1	0	0	0	0	1	0	0	0	17661	1087	38	1	874	1	ZFYVE16	5	79733372	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	355079	79733372	101181888	2702	23627											
DHFR	1719	broad.mit.edu	37	chr5	79924946	79924946	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cttcaaatttgtacttaatgCctttctcctcctggacatca	9	16	4	12	0	3	0	2	0	1	0	5	1	4	1	3	1	2	1	3	1	3	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:79924946C>T	ENST00000439211.2	-	6	1017	c.524G>A	c.(523-525)gGc>gAc	p.G175D	DHFR_ENST00000513048.1_5'UTR|DHFR_ENST00000504396.1_Missense_Mutation_p.G123D|CTC-325J23.2_ENST00000514201.1_RNA|DHFR_ENST00000505337.1_Missense_Mutation_p.G175D|DHFR_ENST00000511032.1_3'UTR	NM_000791.3	NP_000782.1	P00374	DYR_HUMAN	dihydrofolate reductase	175	DHFR. {ECO:0000255|PROSITE- ProRule:PRU00660}.				folic acid metabolic process (GO:0046655)|G1/S transition of mitotic cell cycle (GO:0000082)|glycine biosynthetic process (GO:0006545)|mitotic cell cycle (GO:0000278)|nitric oxide metabolic process (GO:0046209)|nucleotide biosynthetic process (GO:0009165)|one-carbon metabolic process (GO:0006730)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|response to methotrexate (GO:0031427)|small molecule metabolic process (GO:0044281)|tetrahydrofolate biosynthetic process (GO:0046654)|tetrahydrofolate metabolic process (GO:0046653)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	dihydrofolate reductase activity (GO:0004146)|drug binding (GO:0008144)|mRNA binding (GO:0003729)|NADP binding (GO:0050661)			kidney(1)|large_intestine(1)	2		Lung NSC(167;0.00475)|all_lung(232;0.00502)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;2.69e-46)|Epithelial(54;7.49e-41)|all cancers(79;1.54e-35)	Methotrexate(DB00563)|Pemetrexed(DB00642)|Pralatrexate(DB06813)|Proguanil(DB01131)|Pyrimethamine(DB00205)|Trimethoprim(DB00440)|Trimetrexate(DB01157)	GTACTTAATGCCTTTCTCCTC	0.328																																						ENST00000439211.2																			0				kidney(1)|large_intestine(1)	2						c.(523-525)gGc>gAc		dihydrofolate reductase	Dapsone(DB00250)|Dimethyl sulfoxide(DB01093)|Lamotrigine(DB00555)|Methotrexate(DB00563)|NADH(DB00157)|Pemetrexed(DB00642)|Proguanil(DB01131)|Pyrimethamine(DB00205)|Trimethoprim(DB00440)|Trimetrexate(DB01157)						24	22	22					5																	79924946		1867	4123	5990	SO:0001583	missense	1719				folic acid metabolic process|glycine biosynthetic process|nucleotide biosynthetic process|one-carbon metabolic process|regulation of transcription involved in G1/S phase of mitotic cell cycle|response to methotrexate|tetrahydrofolate metabolic process	cytosol	dihydrofolate reductase activity|drug binding|folate reductase activity|NADP binding	g.chr5:79924946C>T		CCDS47240.1	5q11.2-q13.2	2012-10-02			ENSG00000228716	ENSG00000228716	1.5.1.3		2861	protein-coding gene	gene with protein product		126060					Standard	XM_005248455		Approved		uc003kgy.1	P00374	OTTHUMG00000162529	ENST00000439211.2:c.524G>A	5.37:g.79924946C>T	ENSP00000396308:p.Gly175Asp					DHFR_ENST00000511032.1_3'UTR|DHFR_ENST00000505337.1_Missense_Mutation_p.G175D|DHFR_ENST00000513048.1_5'UTR|DHFR_ENST00000504396.1_Missense_Mutation_p.G123D	p.G175D	NM_000791.3	NP_000782.1	P00374	DYR_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;2.69e-46)|Epithelial(54;7.49e-41)|all cancers(79;1.54e-35)	6	1017	-		Lung NSC(167;0.00475)|all_lung(232;0.00502)|Ovarian(174;0.0261)	175			DHFR.		B4DDD2|Q14130|Q6IRW8	Missense_Mutation	SNP	ENST00000439211.2	37	c.524G>A	CCDS47240.1	.	.	.	.	.	.	.	.	.	.	C	18.15	3.559494	0.65538	.	.	ENSG00000228716	ENST00000439211;ENST00000505337;ENST00000504396	T;T;T	0.71461	-0.57;-0.57;-0.57	5.1	5.1	0.69264	Dihydrofolate reductase domain (2);Dihydrofolate reductase-like domain (2);	.	.	.	.	T	0.70996	0.3288	M	0.65498	2.005	0.80722	D	1	P;P	0.39480	0.675;0.675	B;B	0.39419	0.299;0.299	T	0.71794	-0.4485	8	.	.	.	0.0385	17.7128	0.88326	0.0:1.0:0.0:0.0	.	175;175	P00374;B0YJ76	DYR_HUMAN;.	D	175;175;123	ENSP00000396308:G175D;ENSP00000426474:G175D;ENSP00000421334:G123D	.	G	-	2	0	DHFR	79960702	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.588000	0.60999	2.556000	0.86216	0.586000	0.80456	GGC		0.328	DHFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369450.1	NM_000791		10	15	0	0	0	1	0	10	15					T	79924946	C	T	79924946	3	4	435	1	0	0	0	0	1	0	0	0	4481	739	26	3	43	3	DHFR	5	79924946	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	191574	79924946	100990314	2703	23628											
MSH3	4437	broad.mit.edu	37	chr5	79952260	79952260	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ttgacagaagaaagaagagaCcattggaaaatgatgggcct	17	7	12	5	0	0	6	0	2	0	4	0	8	0	7	2	2	0	0	2	2	5	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:79952260C>T	ENST00000265081.6	+	2	348	c.268C>T	c.(268-270)Cca>Tca	p.P90S	DHFR_ENST00000513048.1_5'Flank|DHFR_ENST00000439211.2_5'Flank|DHFR_ENST00000504396.1_5'Flank|DHFR_ENST00000505337.1_5'Flank|DHFR_ENST00000511032.1_5'Flank	NM_002439.4	NP_002430.3	P20585	MSH3_HUMAN	mutS homolog 3	90	Interaction with EXO1.				ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)|maintenance of DNA repeat elements (GO:0043570)|meiotic mismatch repair (GO:0000710)|mismatch repair (GO:0006298)|negative regulation of DNA recombination (GO:0045910)|positive regulation of helicase activity (GO:0051096)|reciprocal meiotic recombination (GO:0007131)|somatic recombination of immunoglobulin gene segments (GO:0016447)	membrane (GO:0016020)|MutSbeta complex (GO:0032302)|nuclear chromosome (GO:0000228)|nucleus (GO:0005634)	ATP binding (GO:0005524)|centromeric DNA binding (GO:0019237)|damaged DNA binding (GO:0003684)|DNA-dependent ATPase activity (GO:0008094)|double-strand/single-strand DNA junction binding (GO:0000406)|enzyme binding (GO:0019899)|heteroduplex DNA loop binding (GO:0000404)|Y-form DNA binding (GO:0000403)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	29		Lung NSC(167;0.00479)|all_lung(232;0.00507)|Ovarian(174;0.0261)|Breast(144;0.244)		OV - Ovarian serous cystadenocarcinoma(54;2.38e-45)|Epithelial(54;1.58e-38)|all cancers(79;4.93e-33)		AAAGAAGAGACCATTGGAAAA	0.408								Mismatch excision repair (MMR)																													Melanoma(88;1010 1399 13793 26548 36275)	ENST00000265081.6																			0				NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	29						c.(268-270)Cca>Tca	Mismatch excision repair (MMR)	mutS homolog 3							127	132	130					5																	79952260		2203	4300	6503	SO:0001583	missense	4437				maintenance of DNA repeat elements|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|somatic recombination of immunoglobulin gene segments	MutSbeta complex|nuclear chromosome	ATP binding|DNA-dependent ATPase activity|double-strand/single-strand DNA junction binding|enzyme binding|loop DNA binding|Y-form DNA binding	g.chr5:79952260C>T	U61981	CCDS34195.1	5q11-q12	2013-09-12	2013-09-12		ENSG00000113318	ENSG00000113318			7326	protein-coding gene	gene with protein product	"Divergent upstream protein", "Mismatch repair protein 1"	600887	"mutS (E. coli) homolog 3", "mutS homolog 3 (E. coli)"				Standard	NM_002439		Approved	DUP, MRP1	uc003kgz.4	P20585	OTTHUMG00000162540	ENST00000265081.6:c.268C>T	5.37:g.79952260C>T	ENSP00000265081:p.Pro90Ser						p.P90S	NM_002439.4	NP_002430.3	P20585	MSH3_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;2.38e-45)|Epithelial(54;1.58e-38)|all cancers(79;4.93e-33)	2	348	+		Lung NSC(167;0.00479)|all_lung(232;0.00507)|Ovarian(174;0.0261)|Breast(144;0.244)	90			Interaction with EXO1.		A1L480|A1L482|A6NMM6|Q6PJT5|Q86UQ6|Q92867	Missense_Mutation	SNP	ENST00000265081.6	37	c.268C>T	CCDS34195.1	.	.	.	.	.	.	.	.	.	.	C	5.714	0.316222	0.10789	.	.	ENSG00000113318	ENST00000265081;ENST00000535995	D	0.85556	-2.0	4.83	-1.63	0.08345	.	0.929946	0.08966	N	0.867951	T	0.65575	0.2704	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.49153	-0.8969	9	.	.	.	-2.6995	0.835	0.01138	0.2035:0.2791:0.3066:0.2108	.	90	P20585	MSH3_HUMAN	S	90;81	ENSP00000265081:P90S	.	P	+	1	0	MSH3	79988016	0.018000	0.18449	0.103000	0.21229	0.588000	0.36517	-0.654000	0.05354	-0.068000	0.12953	0.563000	0.77884	CCA		0.408	MSH3-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369471.1	NM_002439		32	50	0	0	0	1	0	32	50					T	79952260	C	T	79952260	3	4	435	1	0	0	0	0	1	0	0	0	9871	507	18	3	274	3	MSH3	5	79952260	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	27314	79952260	100963000	2704	23629											
MSH3	4437	broad.mit.edu	37	chr5	80160761	80160761	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atgaaagcaaactggatccaGgtatgaaatattcctgcagt	15	10	9	7	0	0	2	0	2	0	0	2	3	2	3	2	2	3	3	2	2	5	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:80160761G>T	ENST00000265081.6	+	22	3210	c.3130G>T	c.(3130-3132)Ggc>Tgc	p.G1044C		NM_002439.4	NP_002430.3	P20585	MSH3_HUMAN	mutS homolog 3	1044					ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)|maintenance of DNA repeat elements (GO:0043570)|meiotic mismatch repair (GO:0000710)|mismatch repair (GO:0006298)|negative regulation of DNA recombination (GO:0045910)|positive regulation of helicase activity (GO:0051096)|reciprocal meiotic recombination (GO:0007131)|somatic recombination of immunoglobulin gene segments (GO:0016447)	membrane (GO:0016020)|MutSbeta complex (GO:0032302)|nuclear chromosome (GO:0000228)|nucleus (GO:0005634)	ATP binding (GO:0005524)|centromeric DNA binding (GO:0019237)|damaged DNA binding (GO:0003684)|DNA-dependent ATPase activity (GO:0008094)|double-strand/single-strand DNA junction binding (GO:0000406)|enzyme binding (GO:0019899)|heteroduplex DNA loop binding (GO:0000404)|Y-form DNA binding (GO:0000403)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	29		Lung NSC(167;0.00479)|all_lung(232;0.00507)|Ovarian(174;0.0261)|Breast(144;0.244)		OV - Ovarian serous cystadenocarcinoma(54;2.38e-45)|Epithelial(54;1.58e-38)|all cancers(79;4.93e-33)		ACTGGATCCAGGTATGAAATA	0.368								Mismatch excision repair (MMR)																													Melanoma(88;1010 1399 13793 26548 36275)	ENST00000265081.6																			0				NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	29						c.e22+1	Mismatch excision repair (MMR)	mutS homolog 3							105	100	101					5																	80160761		2203	4300	6503	SO:0001630	splice_region_variant	4437				maintenance of DNA repeat elements|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|somatic recombination of immunoglobulin gene segments	MutSbeta complex|nuclear chromosome	ATP binding|DNA-dependent ATPase activity|double-strand/single-strand DNA junction binding|enzyme binding|loop DNA binding|Y-form DNA binding	g.chr5:80160761G>T	U61981	CCDS34195.1	5q11-q12	2013-09-12	2013-09-12		ENSG00000113318	ENSG00000113318			7326	protein-coding gene	gene with protein product	"Divergent upstream protein", "Mismatch repair protein 1"	600887	"mutS (E. coli) homolog 3", "mutS homolog 3 (E. coli)"				Standard	NM_002439		Approved	DUP, MRP1	uc003kgz.4	P20585	OTTHUMG00000162540	ENST00000265081.6:c.3130+1G>T	5.37:g.80160761G>T							p.G1044_splice	NM_002439.4	NP_002430.3	P20585	MSH3_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;2.38e-45)|Epithelial(54;1.58e-38)|all cancers(79;4.93e-33)	22	3210	+		Lung NSC(167;0.00479)|all_lung(232;0.00507)|Ovarian(174;0.0261)|Breast(144;0.244)	1044					A1L480|A1L482|A6NMM6|Q6PJT5|Q86UQ6|Q92867	Splice_Site	SNP	ENST00000265081.6	37	c.3130_splice	CCDS34195.1	.	.	.	.	.	.	.	.	.	.	G	15.45	2.837613	0.50951	.	.	ENSG00000113318	ENST00000265081;ENST00000535995	D	0.88201	-2.35	5.66	4.77	0.60923	DNA mismatch repair protein MutS, C-terminal (2);	2.885430	0.01244	N	0.008693	D	0.93252	0.7850	L	0.57536	1.79	0.80722	D	1	D	0.56968	0.978	P	0.57371	0.819	T	0.80254	-0.1459	9	.	.	.	-3.0026	13.8455	0.63466	0.0:0.0:0.8469:0.1531	.	1044	P20585	MSH3_HUMAN	C	1044;1035	ENSP00000265081:G1044C	.	G	+	1	0	MSH3	80196517	1.000000	0.71417	0.999000	0.59377	0.204000	0.24138	6.444000	0.73452	1.353000	0.45828	0.555000	0.69702	GGC		0.368	MSH3-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369471.1	NM_002439	Missense_Mutation	26	34	1	0	1.66031e-10	1	1.77558e-10	26	34					T	80160761	G	T	80160761	5	4	435	1	0	0	0	0	0	0	1	0	9871	1014	35	5	3216	5	MSH3	5	80160761	Splice_Site	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	208501	80160761	100754499	2705	23630											
RASGRF2	5924	broad.mit.edu	37	chr5	80369158	80369158	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtggaggcagagtcagagtaCgttcaccagctctacatcct	10	9	11	11	1	3	2	2	0	1	2	4	3	4	3	2	2	3	4	2	2	2	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:80369158C>T	ENST00000265080.4	+	5	841	c.774C>T	c.(772-774)taC>taT	p.Y258Y	RASGRF2_ENST00000502677.1_3'UTR	NM_006909.2	NP_008840.1	O14827	RGRF2_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 2	258	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|plasma membrane (GO:0005886)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			biliary_tract(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(28)|ovary(5)|prostate(3)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75		Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357)		OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29)		AGTCAGAGTACGTTCACCAGC	0.537																																						ENST00000265080.4																			0				biliary_tract(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(28)|ovary(5)|prostate(3)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75						c.(772-774)taC>taT		Ras protein-specific guanine nucleotide-releasing factor 2							165	142	150					5																	80369158		2203	4300	6503	SO:0001819	synonymous_variant	5924				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|endoplasmic reticulum membrane|plasma membrane	protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr5:80369158C>T	AF023130	CCDS4052.1	5q13	2013-01-10			ENSG00000113319	ENSG00000113319		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	9876	protein-coding gene	gene with protein product		606614					Standard	NM_006909		Approved	GRF2, Ras-GRF2	uc003kha.2	O14827	OTTHUMG00000119015	ENST00000265080.4:c.774C>T	5.37:g.80369158C>T						RASGRF2_ENST00000502677.1_3'UTR	p.Y258Y	NM_006909.2	NP_008840.1	O14827	RGRF2_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29)	5	841	+		Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357)	258			DH.		B9EG89|Q9UK56	Silent	SNP	ENST00000265080.4	37	c.774C>T	CCDS4052.1																																																																																				0.537	RASGRF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239215.2	NM_006909		10	54	0	0	0	1	0	10	54					T	80369158	C	T	80369158	2	4	435	1	0	0	0	0	0	0	0	1	13073	547	19	1		1	RASGRF2	5	80369158	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	208397	80369158	100546102	2706	23631											
RASGRF2	5924	broad.mit.edu	37	chr5	80497209	80497209	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atttgctagaagaagttttgCgagacccagaccttcttccc	10	12	8	11	1	1	4	0	0	1	4	2	5	2	4	3	0	2	2	3	0	3	6			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:80497209C>T	ENST00000265080.4	+	19	2921	c.2854C>T	c.(2854-2856)Cga>Tga	p.R952*	CKMT2-AS1_ENST00000503483.2_RNA	NM_006909.2	NP_008840.1	O14827	RGRF2_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 2	952					apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|plasma membrane (GO:0005886)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.R952*(1)		biliary_tract(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(28)|ovary(5)|prostate(3)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75		Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357)		OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29)		AGAAGTTTTGCGAGACCCAGA	0.403																																						ENST00000265080.4																			1	Substitution - Nonsense(1)	p.R952*(1)	large_intestine(1)	biliary_tract(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(28)|ovary(5)|prostate(3)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75						c.(2854-2856)Cga>Tga		Ras protein-specific guanine nucleotide-releasing factor 2							73	83	80					5																	80497209		2203	4300	6503	SO:0001587	stop_gained	5924				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|endoplasmic reticulum membrane|plasma membrane	protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr5:80497209C>T	AF023130	CCDS4052.1	5q13	2013-01-10			ENSG00000113319	ENSG00000113319		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	9876	protein-coding gene	gene with protein product		606614					Standard	NM_006909		Approved	GRF2, Ras-GRF2	uc003kha.2	O14827	OTTHUMG00000119015	ENST00000265080.4:c.2854C>T	5.37:g.80497209C>T	ENSP00000265080:p.Arg952*						p.R952*	NM_006909.2	NP_008840.1	O14827	RGRF2_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29)	19	2921	+		Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357)	952					B9EG89|Q9UK56	Nonsense_Mutation	SNP	ENST00000265080.4	37	c.2854C>T	CCDS4052.1	.	.	.	.	.	.	.	.	.	.	C	40	8.420475	0.98803	.	.	ENSG00000113319	ENST00000265080	.	.	.	5.89	3.91	0.45181	.	0.275269	0.34932	N	0.003566	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.9024	0.70689	0.312:0.688:0.0:0.0	.	.	.	.	X	952	.	ENSP00000265080:R952X	R	+	1	2	RASGRF2	80532965	0.502000	0.26107	0.996000	0.52242	0.985000	0.73830	0.688000	0.25422	1.463000	0.47967	0.561000	0.74099	CGA		0.403	RASGRF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239215.2	NM_006909		4	96	0	0	0	1	0	4	96					T	80497209	C	T	80497209	4	4	435	1	0	0	0	0	0	1	0	0	13073	760	27	1	2928	1	RASGRF2	5	80497209	Nonsense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	128051	80497209	100418051	2707	23632											
RASGRF2	5924	broad.mit.edu	37	chr5	80504231	80504231	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	acgaaagaactccttacattAtgaaaaccagccaacacttc	17	8	4	12	1	0	2	0	1	0	1	2	3	1	2	3	0	5	0	3	0	7	3	rs374914135		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:80504231A>G	ENST00000265080.4	+	22	3197	c.3130A>G	c.(3130-3132)Atg>Gtg	p.M1044V	CKMT2-AS1_ENST00000503483.2_RNA|CKMT2-AS1_ENST00000511495.1_RNA	NM_006909.2	NP_008840.1	O14827	RGRF2_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 2	1044	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|plasma membrane (GO:0005886)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			biliary_tract(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(28)|ovary(5)|prostate(3)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75		Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357)		OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29)		TCCTTACATTATGAAAACCAG	0.403																																						ENST00000265080.4																			0				biliary_tract(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(28)|ovary(5)|prostate(3)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75						c.(3130-3132)Atg>Gtg		Ras protein-specific guanine nucleotide-releasing factor 2							78	72	74					5																	80504231		2203	4300	6503	SO:0001583	missense	5924				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|endoplasmic reticulum membrane|plasma membrane	protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr5:80504231A>G	AF023130	CCDS4052.1	5q13	2013-01-10			ENSG00000113319	ENSG00000113319		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	9876	protein-coding gene	gene with protein product		606614					Standard	NM_006909		Approved	GRF2, Ras-GRF2	uc003kha.2	O14827	OTTHUMG00000119015	ENST00000265080.4:c.3130A>G	5.37:g.80504231A>G	ENSP00000265080:p.Met1044Val					CTC-281B15.1_ENST00000503483.2_RNA	p.M1044V	NM_006909.2	NP_008840.1	O14827	RGRF2_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29)	22	3197	+		Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357)	1044			Ras-GEF.		B9EG89|Q9UK56	Missense_Mutation	SNP	ENST00000265080.4	37	c.3130A>G	CCDS4052.1	.	.	.	.	.	.	.	.	.	.	A	9.499	1.102741	0.20632	.	.	ENSG00000113319	ENST00000265080	T	0.27890	1.64	5.67	4.5	0.54988	Guanine-nucleotide dissociation stimulator CDC25 (4);Ras guanine nucleotide exchange factor, domain (1);	0.104279	0.85682	N	0.000000	T	0.19685	0.0473	N	0.17838	0.53	0.53688	D	0.999975	B	0.10296	0.003	B	0.11329	0.006	T	0.03829	-1.1000	10	0.34782	T	0.22	.	10.1421	0.42740	0.9163:0.0:0.0837:0.0	.	1044	O14827	RGRF2_HUMAN	V	1044	ENSP00000265080:M1044V	ENSP00000265080:M1044V	M	+	1	0	RASGRF2	80539987	1.000000	0.71417	0.983000	0.44433	0.081000	0.17604	7.378000	0.79679	0.970000	0.38263	0.528000	0.53228	ATG		0.403	RASGRF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239215.2	NM_006909		8	27	0	0	0	1	0	8	27					G	80504231	A	G	80504231	3	3	435	1	0	0	0	0	1	0	0	0	13073	449	16	4	3216	4	RASGRF2	5	80504231	Missense_Mutation	SNP	A	TCGA-XK-AAIW-01A-11D-A41K-08	7022	80504231	100411029	2708	23633											
CKMT2	1160	broad.mit.edu	37	chr5	80550292	80550292	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agggtgatgaagcacacaacGgatctggatgcatcaaaggt	14	7	13	7	1	2	2	1	2	1	0	2	4	2	4	0	4	3	2	0	4	3	0	rs146777847	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:80550292G>A	ENST00000424301.2	+	5	667	c.429G>A	c.(427-429)acG>acA	p.T143T	CKMT2-AS1_ENST00000503483.2_RNA|CKMT2_ENST00000437669.1_Silent_p.T143T|CKMT2_ENST00000254035.4_Silent_p.T143T|CKMT2-AS1_ENST00000511495.1_RNA|CKMT2-AS1_ENST00000505295.1_RNA|CKMT2-AS1_ENST00000500148.2_RNA|CKMT2-AS1_ENST00000512287.1_RNA|CKMT2-AS1_ENST00000502041.2_RNA|CKMT2-AS1_ENST00000501927.2_RNA	NM_001825.2	NP_001816.2	P17540	KCRS_HUMAN	creatine kinase, mitochondrial 2 (sarcomeric)	143					cellular nitrogen compound metabolic process (GO:0034641)|creatine metabolic process (GO:0006600)|muscle contraction (GO:0006936)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|creatine kinase activity (GO:0004111)			breast(2)|cervix(1)|endometrium(2)|large_intestine(7)|lung(4)|urinary_tract(1)	17		Lung NSC(167;0.00475)|all_lung(232;0.00502)|Ovarian(174;0.0336)		OV - Ovarian serous cystadenocarcinoma(54;2.29e-44)|Epithelial(54;1.05e-38)|all cancers(79;4.15e-34)	Creatine(DB00148)	AGCACACAACGGATCTGGATG	0.572													G|||	6	0.00119808	0.0045	0	5008	,	,		18565	0		0	False		,,,				2504	0					ENST00000424301.2																			0				breast(2)|cervix(1)|endometrium(2)|large_intestine(7)|lung(4)|urinary_tract(1)	17						c.(427-429)acG>acA		creatine kinase, mitochondrial 2 (sarcomeric)	Creatine(DB00148)	G	,,	32,4374	36.8+/-68.6	0,32,2171	148	133	138		429,429,429	-11.2	0.2	5	dbSNP_134	138	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous	CKMT2	NM_001099735.1,NM_001099736.1,NM_001825.2	,,	0,32,6471	AA,AG,GG		0.0,0.7263,0.246	,,	143/420,143/420,143/420	80550292	32,12974	2203	4300	6503	SO:0001819	synonymous_variant	1160				creatine metabolic process|muscle contraction	mitochondrial inner membrane	ATP binding|creatine kinase activity	g.chr5:80550292G>A		CCDS4053.1	5q14.1	2013-09-20			ENSG00000131730	ENSG00000131730	2.7.3.2		1996	protein-coding gene	gene with protein product		123295				2324105	Standard	NM_001825		Approved	SMTCK	uc003khd.4	P17540	OTTHUMG00000119013	ENST00000424301.2:c.429G>A	5.37:g.80550292G>A						CTC-281B15.1_ENST00000512287.1_RNA|CTC-281B15.1_ENST00000502041.2_RNA|CTC-281B15.1_ENST00000500148.2_RNA|CTC-281B15.1_ENST00000501927.2_RNA|CTC-281B15.1_ENST00000511495.1_RNA|CTC-281B15.1_ENST00000505295.1_RNA|CKMT2_ENST00000254035.4_Silent_p.T143T|CKMT2_ENST00000437669.1_Silent_p.T143T|CTC-281B15.1_ENST00000503483.2_RNA	p.T143T	NM_001825.2	NP_001816.2	P17540	KCRS_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;2.29e-44)|Epithelial(54;1.05e-38)|all cancers(79;4.15e-34)	5	667	+		Lung NSC(167;0.00475)|all_lung(232;0.00502)|Ovarian(174;0.0336)	143					Q6ICS8|Q8N1E1	Silent	SNP	ENST00000424301.2	37	c.429G>A	CCDS4053.1																																																																																				0.572	CKMT2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369600.1	NM_001825		13	26	0	0	0	1	0	13	26					A	80550292	G	A	80550292	2	1	435	1	0	0	0	0	0	0	0	1	3451	1103	39	2		2	CKMT2	5	80550292	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	46061	80550292	100364968	2709	23634											
VCAN	1462	broad.mit.edu	37	chr5	82789511	82789511	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atggatttgagcagtgtgacGcaggctggctggctgatcag	8	10	16	7	1	1	3	1	3	0	0	1	4	1	4	0	4	1	5	0	4	0	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:82789511G>A	ENST00000265077.3	+	4	1157	c.592G>A	c.(592-594)Gca>Aca	p.A198T	VCAN_ENST00000342785.4_Missense_Mutation_p.A198T|VCAN_ENST00000343200.5_Missense_Mutation_p.A198T|VCAN_ENST00000513984.1_Missense_Mutation_p.A198T|VCAN_ENST00000512590.2_Missense_Mutation_p.A150T|VCAN_ENST00000502527.2_Missense_Mutation_p.A198T	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	198	Link 1. {ECO:0000255|PROSITE- ProRule:PRU00323}.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|cell recognition (GO:0008037)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|heart development (GO:0007507)|multicellular organismal development (GO:0007275)|osteoblast differentiation (GO:0001649)|small molecule metabolic process (GO:0044281)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|glycosaminoglycan binding (GO:0005539)|hyaluronic acid binding (GO:0005540)			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	Hyaluronan(DB08818)	GCAGTGTGACGCAGGCTGGCT	0.502																																						ENST00000265077.3																			0				NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190						c.(592-594)Gca>Aca		versican							95	96	96					5																	82789511		2203	4300	6503	SO:0001583	missense	1462				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding	g.chr5:82789511G>A	X15998	CCDS4060.1, CCDS47242.1, CCDS54875.1, CCDS54876.1	5q14.2-q14.3	2013-05-07	2007-02-15	2007-02-15	ENSG00000038427	ENSG00000038427		"Immunoglobulin superfamily / V-set domain containing", "Proteoglycans / Extracellular Matrix : Hyalectans"	2464	protein-coding gene	gene with protein product	"versican proteoglycan"	118661	"chondroitin sulfate proteoglycan 2"	CSPG2		1478664, 21063030	Standard	NM_004385		Approved	PG-M	uc003kii.3	P13611	OTTHUMG00000131321	ENST00000265077.3:c.592G>A	5.37:g.82789511G>A	ENSP00000265077:p.Ala198Thr					VCAN_ENST00000502527.2_Missense_Mutation_p.A198T|VCAN_ENST00000343200.5_Missense_Mutation_p.A198T|VCAN_ENST00000513984.1_Missense_Mutation_p.A198T|VCAN_ENST00000342785.4_Missense_Mutation_p.A198T|VCAN_ENST00000512590.2_Missense_Mutation_p.A150T	p.A198T	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	4	1157	+		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)	198			Link 1.		P20754|Q13010|Q13189|Q15123|Q9UCL9|Q9UNW5	Missense_Mutation	SNP	ENST00000265077.3	37	c.592G>A	CCDS4060.1	.	.	.	.	.	.	.	.	.	.	G	36	5.643307	0.96704	.	.	ENSG00000038427	ENST00000265077;ENST00000343200;ENST00000342785;ENST00000512590;ENST00000513960;ENST00000513984;ENST00000502527	T;T;T;T;T;T;T	0.13538	2.58;2.58;2.58;2.58;2.58;2.58;2.58	5.68	5.68	0.88126	C-type lectin fold (1);Link (5);C-type lectin-like (1);	0.000000	0.64402	D	0.000011	T	0.52629	0.1746	H	0.94734	3.575	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.999;1.0;1.0;1.0;1.0	T	0.64905	-0.6297	10	0.87932	D	0	.	20.14	0.98056	0.0:0.0:1.0:0.0	.	198;198;198;198;198	P13611-3;P13611-4;P13611-2;P13611;Q86W61	.;.;.;CSPG2_HUMAN;.	T	198;198;198;150;198;198;198	ENSP00000265077:A198T;ENSP00000340062:A198T;ENSP00000342768:A198T;ENSP00000425959:A150T;ENSP00000426251:A198T;ENSP00000426715:A198T;ENSP00000421362:A198T	ENSP00000265077:A198T	A	+	1	0	VCAN	82825267	1.000000	0.71417	0.995000	0.50966	0.964000	0.63967	9.813000	0.99286	2.837000	0.97791	0.591000	0.81541	GCA		0.502	VCAN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254092.3	NM_004385		34	44	0	0	0	1	0	34	44					A	82789511	G	A	82789511	3	1	435	1	0	0	0	0	1	0	0	0	17135	1087	38	1	602	1	VCAN	5	82789511	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	2239219	82789511	98125749	2710	23635											
HAPLN1	1404	broad.mit.edu	37	chr5	82940427	82940427	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtccagacacgcctgctgcGcctcgtgaaaattgagattg	9	9	12	11	3	0	3	0	2	0	2	2	4	1	3	3	1	2	1	3	1	2	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:82940427G>A	ENST00000274341.4	-	4	1380	c.530C>T	c.(529-531)gCg>gTg	p.A177V		NM_001884.3	NP_001875.1	P10915	HPLN1_HUMAN	hyaluronan and proteoglycan link protein 1	177	Link 1. {ECO:0000255|PROSITE- ProRule:PRU00323}.				cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	hyaluronic acid binding (GO:0005540)			breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|liver(1)|lung(15)|ovary(1)|prostate(1)|skin(1)	34		Lung NSC(167;0.0484)|all_lung(232;0.0522)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;7.82e-42)|Epithelial(54;5.88e-35)|all cancers(79;1.14e-29)	Hyaluronan(DB08818)	CGCCTGCTGCGCCTCGTGAAA	0.582																																						ENST00000274341.4																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|liver(1)|lung(15)|ovary(1)|prostate(1)|skin(1)	34						c.(529-531)gCg>gTg		hyaluronan and proteoglycan link protein 1							38	36	37					5																	82940427		2203	4300	6503	SO:0001583	missense	1404				cell adhesion	proteinaceous extracellular matrix	hyaluronic acid binding	g.chr5:82940427G>A		CCDS4061.1	5q14.3	2013-01-11	2004-03-16	2004-03-17	ENSG00000145681	ENSG00000145681		"Immunoglobulin superfamily / V-set domain containing"	2380	protein-coding gene	gene with protein product	"Cartilage link protein", "hyaluronan and proteoglycan link protein 1"	115435	"cartilage linking protein 1"	CRTL1		2286376, 2320422	Standard	NM_001884		Approved		uc003kin.3	P10915	OTTHUMG00000119045	ENST00000274341.4:c.530C>T	5.37:g.82940427G>A	ENSP00000274341:p.Ala177Val						p.A177V	NM_001884.3	NP_001875.1	P10915	HPLN1_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;7.82e-42)|Epithelial(54;5.88e-35)|all cancers(79;1.14e-29)	4	1380	-		Lung NSC(167;0.0484)|all_lung(232;0.0522)|Ovarian(174;0.142)	177			Link 1.		B2R9A9	Missense_Mutation	SNP	ENST00000274341.4	37	c.530C>T	CCDS4061.1	.	.	.	.	.	.	.	.	.	.	G	33	5.268298	0.95429	.	.	ENSG00000145681	ENST00000274341;ENST00000510978;ENST00000508307;ENST00000503117	T;T;T;T	0.52057	0.68;0.68;0.68;0.68	5.8	5.8	0.92144	C-type lectin fold (1);Link (4);C-type lectin-like (1);	0.000000	0.85682	D	0.000000	T	0.82024	0.4947	H	0.97918	4.105	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.88221	0.2897	10	0.87932	D	0	.	20.0608	0.97674	0.0:0.0:1.0:0.0	.	177	P10915	HPLN1_HUMAN	V	177;177;177;176	ENSP00000274341:A177V;ENSP00000422592:A177V;ENSP00000421341:A177V;ENSP00000426610:A176V	ENSP00000274341:A177V	A	-	2	0	HAPLN1	82976183	1.000000	0.71417	0.968000	0.41197	0.636000	0.38137	9.476000	0.97823	2.733000	0.93635	0.650000	0.86243	GCG		0.582	HAPLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239256.2	NM_001884		17	6	0	0	0	1	0	17	6					A	82940427	G	A	82940427	3	1	435	1	0	0	0	0	1	0	0	0	6954	1087	38	1	542	1	HAPLN1	5	82940427	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	150916	82940427	97974833	2711	23636											
EDIL3	10085	broad.mit.edu	37	chr5	83259056	83259056	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttgcttttcatcctggtataCagtccagtgttctccatcat	7	17	6	11	0	3	0	2	0	1	0	6	0	5	0	3	1	2	3	3	1	2	6			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:83259056C>T	ENST00000296591.5	-	10	1679	c.1261G>A	c.(1261-1263)Gta>Ata	p.V421I	EDIL3_ENST00000380138.3_Missense_Mutation_p.V411I	NM_005711.3	NP_005702.3	O43854	EDIL3_HUMAN	EGF-like repeats and discoidin I-like domains 3	421	F5/8 type C 2. {ECO:0000255|PROSITE- ProRule:PRU00081}.				cell adhesion (GO:0007155)|multicellular organismal development (GO:0007275)|positive regulation of cell-substrate adhesion (GO:0010811)	extracellular vesicular exosome (GO:0070062)|vesicle (GO:0031982)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)			cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(5)|skin(3)	31		Lung NSC(167;0.000121)|all_lung(232;0.000154)|Ovarian(174;0.0425)		OV - Ovarian serous cystadenocarcinoma(54;4.3e-40)|Epithelial(54;4.79e-32)|all cancers(79;1.54e-26)		TCCTGGTATACAGTCCAGTGT	0.393																																						ENST00000296591.5																			0				cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(5)|skin(3)	31						c.(1261-1263)Gta>Ata		EGF-like repeats and discoidin I-like domains 3							204	200	201					5																	83259056		2203	4300	6503	SO:0001583	missense	10085				cell adhesion|multicellular organismal development	extracellular region	calcium ion binding|integrin binding	g.chr5:83259056C>T	U70312	CCDS4062.1, CCDS64195.1	5q14	2008-02-05			ENSG00000164176	ENSG00000164176			3173	protein-coding gene	gene with protein product		606018				9420328	Standard	NM_005711		Approved	DEL1	uc003kio.1	O43854	OTTHUMG00000119047	ENST00000296591.5:c.1261G>A	5.37:g.83259056C>T	ENSP00000296591:p.Val421Ile					EDIL3_ENST00000380138.3_Missense_Mutation_p.V411I	p.V421I	NM_005711.3	NP_005702.3	O43854	EDIL3_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;4.3e-40)|Epithelial(54;4.79e-32)|all cancers(79;1.54e-26)	10	1679	-		Lung NSC(167;0.000121)|all_lung(232;0.000154)|Ovarian(174;0.0425)	421			F5/8 type C 2.		B2R763|O43855|Q5D094|Q8N610	Missense_Mutation	SNP	ENST00000296591.5	37	c.1261G>A	CCDS4062.1	.	.	.	.	.	.	.	.	.	.	C	9.190	1.025715	0.19512	.	.	ENSG00000164176	ENST00000296591;ENST00000380138	D;D	0.98192	-4.78;-4.78	5.72	2.97	0.34412	Coagulation factor 5/8 C-terminal type domain (3);Galactose-binding domain-like (1);	0.382741	0.28665	N	0.014551	D	0.92208	0.7529	N	0.05012	-0.13	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.09377	0.002;0.004	D	0.83749	0.0208	10	0.18276	T	0.48	-14.4535	9.3299	0.38016	0.0:0.6628:0.0:0.3372	.	411;421	O43854-2;O43854	.;EDIL3_HUMAN	I	421;411	ENSP00000296591:V421I;ENSP00000369483:V411I	ENSP00000296591:V421I	V	-	1	0	EDIL3	83294812	0.245000	0.23899	0.828000	0.32881	0.997000	0.91878	0.800000	0.27042	0.782000	0.33613	0.650000	0.86243	GTA		0.393	EDIL3-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239258.1	NM_005711		10	79	0	0	0	1	0	10	79					T	83259056	C	T	83259056	3	4	435	1	0	0	0	0	1	0	0	0	4915	478	17	3	189	3	EDIL3	5	83259056	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	318629	83259056	97656204	2712	23637											
RASA1	5921	broad.mit.edu	37	chr5	86672218	86672218	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tttcttcccaagtatttatgCgctgccagttgagccgatta	8	15	8	10	2	1	1	0	1	1	0	2	2	2	1	3	0	3	3	3	0	4	7	rs370631681		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:86672218C>T	ENST00000274376.6	+	16	2584	c.2020C>T	c.(2020-2022)Cgc>Tgc	p.R674C	RASA1_ENST00000512763.1_Missense_Mutation_p.R507C|RASA1_ENST00000506290.1_Missense_Mutation_p.R508C|RASA1_ENST00000456692.2_Missense_Mutation_p.R497C|CTC-428H11.2_ENST00000607486.1_RNA	NM_002890.2	NP_002881.1	P20936	RASA1_HUMAN	RAS p21 protein activator (GTPase activating protein) 1	674	C2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				blood vessel morphogenesis (GO:0048514)|embryo development (GO:0009790)|intracellular signal transduction (GO:0035556)|mitotic cytokinesis (GO:0000281)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|regulation of actin filament polymerization (GO:0030833)|regulation of cell shape (GO:0008360)|regulation of RNA metabolic process (GO:0051252)|signal transduction (GO:0007165)|vasculogenesis (GO:0001570)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|ruffle (GO:0001726)	glycoprotein binding (GO:0001948)|GTPase binding (GO:0051020)|potassium channel inhibitor activity (GO:0019870)|Ras GTPase activator activity (GO:0005099)|receptor binding (GO:0005102)			NS(1)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(12)|lung(13)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	48		all_cancers(142;8.25e-07)|Lung NSC(167;0.000185)|all_lung(232;0.000222)|Colorectal(57;0.00542)|Ovarian(174;0.0423)		OV - Ovarian serous cystadenocarcinoma(54;4.72e-41)|Epithelial(54;1.51e-36)|all cancers(79;3.76e-31)		AGTATTTATGCGCTGCCAGTT	0.413																																						ENST00000456692.2																			0				NS(1)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(12)|lung(13)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	48						c.(1489-1491)Cgc>Tgc		RAS p21 protein activator (GTPase activating protein) 1		C	CYS/ARG,CYS/ARG	0,4406		0,0,2203	69	67	68		2020,1489	5.3	1	5		68	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	RASA1	NM_002890.2,NM_022650.2	180,180	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign,benign	674/1048,497/871	86672218	1,13005	2203	4300	6503	SO:0001583	missense	5921				cytokinesis|embryo development|intracellular signal transduction|negative regulation of cell-matrix adhesion|negative regulation of neuron apoptosis|negative regulation of Ras protein signal transduction|positive regulation of anti-apoptosis|regulation of actin filament polymerization|regulation of cell shape|regulation of RNA metabolic process|vasculogenesis	cytosol|intrinsic to internal side of plasma membrane	glycoprotein binding|GTPase binding|potassium channel inhibitor activity|Ras GTPase activator activity|receptor binding	g.chr5:86672218C>T		CCDS34200.1, CCDS47243.1	5q13	2013-02-14			ENSG00000145715	ENSG00000145715		"Pleckstrin homology (PH) domain containing", "SH2 domain containing"	9871	protein-coding gene	gene with protein product	"capillary malformation-arteriovenous malformation"	139150		RASA		15917201	Standard	NM_022650		Approved	GAP, CM-AVM, p120GAP, p120RASGAP	uc003kiw.3	P20936	OTTHUMG00000162605	ENST00000274376.6:c.2020C>T	5.37:g.86672218C>T	ENSP00000274376:p.Arg674Cys					RASA1_ENST00000506290.1_Missense_Mutation_p.R508C|CTC-428H11.2_ENST00000607486.1_RNA|RASA1_ENST00000512763.1_Missense_Mutation_p.R507C|RASA1_ENST00000274376.6_Missense_Mutation_p.R674C	p.R497C	NM_022650.2	NP_072179.1	P20936	RASA1_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;4.72e-41)|Epithelial(54;1.51e-36)|all cancers(79;3.76e-31)	16	1604	+		all_cancers(142;8.25e-07)|Lung NSC(167;0.000185)|all_lung(232;0.000222)|Colorectal(57;0.00542)|Ovarian(174;0.0423)	674			PH.		B2R6W3|Q9UDI1	Missense_Mutation	SNP	ENST00000274376.6	37	c.1489C>T	CCDS34200.1	.	.	.	.	.	.	.	.	.	.	C	14.64	2.596828	0.46318	0.0	1.16E-4	ENSG00000145715	ENST00000274376;ENST00000534133;ENST00000456692;ENST00000512763;ENST00000506290	T;T;T;T	0.72167	-0.63;-0.63;-0.63;-0.63	5.35	5.35	0.76521	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (1);C2 calcium/lipid-binding domain, CaLB (1);	0.047298	0.85682	D	0.000000	T	0.61248	0.2332	L	0.27053	0.805	0.80722	D	1	B;B;B;B;B	0.17667	0.013;0.006;0.013;0.022;0.023	B;B;B;B;B	0.09377	0.002;0.002;0.002;0.004;0.003	T	0.55335	-0.8157	10	0.37606	T	0.19	.	19.075	0.93158	0.0:1.0:0.0:0.0	.	508;507;508;497;674	E9PGC0;B4DTL2;B4DTX4;P20936-2;P20936	.;.;.;.;RASA1_HUMAN	C	674;707;497;507;508	ENSP00000274376:R674C;ENSP00000411221:R497C;ENSP00000422008:R507C;ENSP00000420905:R508C	ENSP00000274376:R674C	R	+	1	0	RASA1	86707974	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.089000	0.71384	2.499000	0.84300	0.563000	0.77884	CGC		0.413	RASA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000369729.1	NM_002890		14	24	0	0	0	1	0	14	24					T	86672218	C	T	86672218	3	4	435	1	0	0	0	0	1	0	0	0	13060	768	27	1	2094	1	RASA1	5	86672218	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	3413162	86672218	94243042	2713	23638											
MEF2C	4208	broad.mit.edu	37	chr5	88119602	88119602	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	aatctgaatcttttttctccCcatagtccccgtttttcttc	6	19	3	13	1	4	1	0	1	4	0	7	1	5	1	4	0	0	1	4	0	3	7			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:88119602C>T	ENST00000437473.2	-	2	421	c.4G>A	c.(4-6)Ggg>Agg	p.G2R	MEF2C_ENST00000506554.1_Missense_Mutation_p.G2R|MEF2C_ENST00000514015.1_Missense_Mutation_p.G2R|MEF2C_ENST00000508569.1_Missense_Mutation_p.G2R|MEF2C_ENST00000514028.1_Missense_Mutation_p.G2R|MEF2C_ENST00000510942.1_Missense_Mutation_p.G2R|MEF2C_ENST00000424173.2_Missense_Mutation_p.G2R|MEF2C_ENST00000340208.5_Missense_Mutation_p.G2R|MEF2C_ENST00000539796.1_Missense_Mutation_p.G2R|MEF2C_ENST00000504921.2_Missense_Mutation_p.G2R	NM_001193350.1|NM_002397.4	NP_001180279.1|NP_002388.2	Q06413	MEF2C_HUMAN	myocyte enhancer factor 2C	2					apoptotic process (GO:0006915)|B cell homeostasis (GO:0001782)|B cell proliferation (GO:0042100)|B cell receptor signaling pathway (GO:0050853)|blood vessel development (GO:0001568)|blood vessel remodeling (GO:0001974)|cardiac muscle hypertrophy in response to stress (GO:0014898)|cardiac ventricle formation (GO:0003211)|cartilage morphogenesis (GO:0060536)|cell morphogenesis involved in neuron differentiation (GO:0048667)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|cellular response to fluid shear stress (GO:0071498)|cellular response to glucose stimulus (GO:0071333)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to parathyroid hormone stimulus (GO:0071374)|cellular response to retinoic acid (GO:0071300)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cellular response to trichostatin A (GO:0035984)|chondrocyte differentiation (GO:0002062)|dentate gyrus development (GO:0021542)|embryonic viscerocranium morphogenesis (GO:0048703)|endochondral ossification (GO:0001958)|epithelial cell proliferation involved in renal tubule morphogenesis (GO:2001013)|germinal center formation (GO:0002467)|glomerulus morphogenesis (GO:0072102)|heart development (GO:0007507)|heart looping (GO:0001947)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|MAPK cascade (GO:0000165)|melanocyte differentiation (GO:0030318)|monocyte differentiation (GO:0030224)|muscle cell differentiation (GO:0042692)|muscle cell fate determination (GO:0007521)|muscle organ development (GO:0007517)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|myotube differentiation (GO:0014902)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of gene expression (GO:0010629)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of ossification (GO:0030279)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nephron tubule epithelial cell differentiation (GO:0072160)|nervous system development (GO:0007399)|neural crest cell differentiation (GO:0014033)|neuron development (GO:0048666)|neuron differentiation (GO:0030182)|neuron migration (GO:0001764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|osteoblast differentiation (GO:0001649)|outflow tract morphogenesis (GO:0003151)|palate development (GO:0060021)|platelet formation (GO:0030220)|positive regulation of alkaline phosphatase activity (GO:0010694)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of behavioral fear response (GO:2000987)|positive regulation of bone mineralization (GO:0030501)|positive regulation of cardiac muscle cell differentiation (GO:2000727)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|positive regulation of cell proliferation in bone marrow (GO:0071864)|positive regulation of gene expression (GO:0010628)|positive regulation of macrophage apoptotic process (GO:2000111)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of myoblast differentiation (GO:0045663)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein homodimerization activity (GO:0090073)|positive regulation of skeletal muscle cell differentiation (GO:2001016)|positive regulation of skeletal muscle tissue development (GO:0048643)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|primary heart field specification (GO:0003138)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of dendritic spine development (GO:0060998)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of germinal center formation (GO:0002634)|regulation of megakaryocyte differentiation (GO:0045652)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of neuron apoptotic process (GO:0043523)|regulation of neurotransmitter secretion (GO:0046928)|regulation of sarcomere organization (GO:0060297)|regulation of synapse assembly (GO:0051963)|regulation of synaptic activity (GO:0060025)|regulation of synaptic plasticity (GO:0048167)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of transcription, DNA-templated (GO:0006355)|renal tubule morphogenesis (GO:0061333)|response to ischemia (GO:0002931)|response to virus (GO:0009615)|response to vitamin E (GO:0033197)|secondary heart field specification (GO:0003139)|sinoatrial valve morphogenesis (GO:0003185)|skeletal muscle tissue development (GO:0007519)|smooth muscle cell differentiation (GO:0051145)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|ventricular cardiac muscle cell differentiation (GO:0055012)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)|sarcomere (GO:0030017)	activating transcription factor binding (GO:0033613)|AT DNA binding (GO:0003680)|chromatin binding (GO:0003682)|core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|miRNA binding (GO:0035198)|protein heterodimerization activity (GO:0046982)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity (GO:0000983)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	40		all_cancers(142;6.67e-05)|all_epithelial(76;7.77e-07)|Lung NSC(167;0.00566)|all_lung(232;0.00732)|Colorectal(57;0.0959)|Ovarian(174;0.1)		OV - Ovarian serous cystadenocarcinoma(54;1.04e-33)|Epithelial(54;1.6e-28)|all cancers(79;2.9e-25)		TTTTTTCTCCCCATAGTCCCC	0.338										HNSCC(66;0.2)																												ENST00000504921.2																			0				breast(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	40						c.(4-6)Ggg>Agg		myocyte enhancer factor 2C							287	288	288					5																	88119602		1827	4076	5903	SO:0001583	missense	4208				apoptosis|B cell proliferation|innate immune response|learning or memory|muscle cell differentiation|muscle organ development|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|neuron development|positive regulation of muscle cell differentiation|positive regulation of survival gene product expression|positive regulation of transcription from RNA polymerase II promoter|regulation of germinal center formation|regulation of megakaryocyte differentiation|regulation of synaptic activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	nuclear speck	activating transcription factor binding|protein heterodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	g.chr5:88119602C>T	AL833268	CCDS47244.1, CCDS47245.1, CCDS54877.1, CCDS54878.1	5q14.3	2013-07-03	2007-04-24		ENSG00000081189	ENSG00000081189		"Myocyte enhancer factors"	6996	protein-coding gene	gene with protein product		600662				8455629	Standard	NM_002397		Approved		uc003kjl.3	Q06413	OTTHUMG00000162634	ENST00000437473.2:c.4G>A	5.37:g.88119602C>T	ENSP00000396219:p.Gly2Arg	HNSCC(66;0.2)				MEF2C_ENST00000424173.2_Missense_Mutation_p.G2R|MEF2C_ENST00000510942.1_Missense_Mutation_p.G2R|MEF2C_ENST00000506554.1_Missense_Mutation_p.G2R|MEF2C_ENST00000437473.2_Missense_Mutation_p.G2R|MEF2C_ENST00000539796.1_Missense_Mutation_p.G2R|MEF2C_ENST00000340208.5_Missense_Mutation_p.G2R|MEF2C_ENST00000508569.1_Missense_Mutation_p.G2R|MEF2C_ENST00000514028.1_Missense_Mutation_p.G2R|MEF2C_ENST00000514015.1_Missense_Mutation_p.G2R	p.G2R			Q06413	MEF2C_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;1.04e-33)|Epithelial(54;1.6e-28)|all cancers(79;2.9e-25)	2	676	-		all_cancers(142;6.67e-05)|all_epithelial(76;7.77e-07)|Lung NSC(167;0.00566)|all_lung(232;0.00732)|Colorectal(57;0.0959)|Ovarian(174;0.1)	2					C9JMZ0|D7F7N5|F8W7V7	Missense_Mutation	SNP	ENST00000437473.2	37	c.4G>A	CCDS47245.1	.	.	.	.	.	.	.	.	.	.	C	23.1	4.371572	0.82573	.	.	ENSG00000081189	ENST00000340208;ENST00000424173;ENST00000504921;ENST00000514028;ENST00000437473;ENST00000510942;ENST00000506554;ENST00000508569;ENST00000514015;ENST00000539796;ENST00000513252;ENST00000506716;ENST00000507984;ENST00000502983;ENST00000508610;ENST00000502831;ENST00000503075;ENST00000509373	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.99207	-2.12;-2.12;-2.12;-2.12;-2.12;-2.12;-2.12;-2.12;-2.12;-2.12;-2.12;-2.12;-2.12;-2.12;-2.12;-2.12;-2.12;-5.56	5.12	5.12	0.69794	Transcription factor, MADS-box (3);	0.045544	0.85682	D	0.000000	D	0.99625	0.9863	H	0.95402	3.665	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;1.0;1.0	D;D;D;D	0.97110	0.973;1.0;0.999;1.0	D	0.97752	1.0215	10	0.87932	D	0	-4.8137	18.9236	0.92536	0.0:1.0:0.0:0.0	.	2;2;2;2	C9JMZ0;F8W7V7;Q06413;Q06413-2	.;.;MEF2C_HUMAN;.	R	2	ENSP00000340874:G2R;ENSP00000389610:G2R;ENSP00000421925:G2R;ENSP00000426665:G2R;ENSP00000396219:G2R;ENSP00000422390:G2R;ENSP00000425636:G2R;ENSP00000423597:G2R;ENSP00000424606:G2R;ENSP00000441153:G2R;ENSP00000423826:G2R;ENSP00000423656:G2R;ENSP00000424331:G2R;ENSP00000427163:G2R;ENSP00000426442:G2R;ENSP00000427286:G2R;ENSP00000426465:G2R;ENSP00000427309:G2R	ENSP00000340874:G2R	G	-	1	0	MEF2C	88155358	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.418000	0.80167	2.543000	0.85770	0.591000	0.81541	GGG		0.338	MEF2C-003	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000369817.1	NM_002397		42	98	0	0	0	1	0	42	98					T	88119602	C	T	88119602	3	4	435	1	0	0	0	0	1	0	0	0	9457	623	22	3	1599	3	MEF2C	5	88119602	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	1447384	88119602	92795658	2714	23639											
LYSMD3	116068	broad.mit.edu	37	chr5	89814725	89814725	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gaaatgtattcctttagttgGcacaattccattttccattt	10	18	5	8	0	0	0	0	0	0	0	3	1	3	0	3	1	0	3	3	1	4	9			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:89814725G>A	ENST00000315948.6	-	3	976	c.832C>T	c.(832-834)Cca>Tca	p.P278S	LYSMD3_ENST00000500869.2_Silent_p.C119C|LYSMD3_ENST00000509384.1_3'UTR	NM_198273.1	NP_938014.1	Q7Z3D4	LYSM3_HUMAN	LysM, putative peptidoglycan-binding, domain containing 3	278						integral component of membrane (GO:0016021)				breast(2)|large_intestine(1)|lung(2)|prostate(1)|urinary_tract(1)	7		all_cancers(142;5.03e-09)|all_epithelial(76;1.23e-11)|Lung NSC(167;2.46e-05)|all_lung(232;3.25e-05)|Ovarian(174;0.00832)|Colorectal(57;0.122)|Breast(839;0.198)		OV - Ovarian serous cystadenocarcinoma(54;1.94e-31)|Epithelial(54;5.22e-26)|all cancers(79;2.42e-22)		CCTTTAGTTGGCACAATTCCA	0.388																																						ENST00000315948.6																			0				breast(2)|large_intestine(1)|lung(2)|prostate(1)|urinary_tract(1)	7						c.(832-834)Cca>Tca		LysM, putative peptidoglycan-binding, domain containing 3							136	126	129					5																	89814725		1933	4139	6072	SO:0001583	missense	116068				cell wall macromolecule catabolic process	integral to membrane		g.chr5:89814725G>A	BX537972	CCDS43338.1, CCDS68911.1	5q14.3	2010-12-09			ENSG00000176018	ENSG00000176018			26969	protein-coding gene	gene with protein product							Standard	NM_001286812		Approved	FLJ13542	uc003kjr.3	Q7Z3D4	OTTHUMG00000162667	ENST00000315948.6:c.832C>T	5.37:g.89814725G>A	ENSP00000314518:p.Pro278Ser					LYSMD3_ENST00000509384.1_3'UTR|LYSMD3_ENST00000500869.2_Silent_p.C119C	p.P278S	NM_198273.1	NP_938014.1	Q7Z3D4	LYSM3_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;1.94e-31)|Epithelial(54;5.22e-26)|all cancers(79;2.42e-22)	3	976	-		all_cancers(142;5.03e-09)|all_epithelial(76;1.23e-11)|Lung NSC(167;2.46e-05)|all_lung(232;3.25e-05)|Ovarian(174;0.00832)|Colorectal(57;0.122)|Breast(839;0.198)	278					Q5H9U0|Q6PEK0|Q9NTE9	Missense_Mutation	SNP	ENST00000315948.6	37	c.832C>T	CCDS43338.1	.	.	.	.	.	.	.	.	.	.	G	11.26	1.586611	0.28268	.	.	ENSG00000176018;ENSG00000259141	ENST00000315948;ENST00000554351	T	0.23552	1.9	5.84	5.84	0.93424	.	0.211716	0.39759	N	0.001278	T	0.25680	0.0625	M	0.64997	1.995	0.40023	D	0.975438	B	0.25772	0.134	B	0.18561	0.022	T	0.04961	-1.0915	10	0.17369	T	0.5	-20.3809	13.3556	0.60625	0.0719:0.0:0.9281:0.0	.	278	Q7Z3D4	LYSM3_HUMAN	S	278	ENSP00000314518:P278S	ENSP00000314518:P278S	P	-	1	0	AC027323.1;LYSMD3	89850481	1.000000	0.71417	0.969000	0.41365	0.522000	0.34438	4.650000	0.61440	2.751000	0.94390	0.591000	0.81541	CCA		0.388	LYSMD3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369987.2	XM_371760		40	48	0	0	0	1	0	40	48					A	89814725	G	A	89814725	3	1	435	1	0	0	0	0	1	0	0	0	9126	1203	42	3	92	3	LYSMD3	5	89814725	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	1695123	89814725	91100535	2715	23640											
GPR98	84059	broad.mit.edu	37	chr5	89938497	89938497	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaatctggatatactagccGtgacctaattattttggaaa	14	13	8	6	1	1	1	0	1	1	0	1	4	1	3	2	2	2	0	2	2	7	7			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:89938497G>A	ENST00000405460.2	+	12	2381	c.2285G>A	c.(2284-2286)cGt>cAt	p.R762H		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	762					detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TATACTAGCCGTGACCTAATT	0.398																																						ENST00000405460.2																			0				NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269						c.(2284-2286)cGt>cAt		G protein-coupled receptor 98							112	115	114					5																	89938497		1799	4072	5871	SO:0001583	missense	84059				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr5:89938497G>A	AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"-", "GPCR / Class B : Orphans"	17416	protein-coding gene	gene with protein product		602851	"monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.2285G>A	5.37:g.89938497G>A	ENSP00000384582:p.Arg762His						p.R762H	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)	12	2381	+		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)	762					O75171|Q8TF58|Q9H0X5|Q9UL61	Missense_Mutation	SNP	ENST00000405460.2	37	c.2285G>A	CCDS47246.1	.	.	.	.	.	.	.	.	.	.	G	32	5.175203	0.94807	.	.	ENSG00000164199	ENST00000405460;ENST00000296619;ENST00000399043	T	0.27104	1.69	5.09	5.09	0.68999	.	0.154594	0.64402	D	0.000018	T	0.49508	0.1561	M	0.63428	1.95	0.80722	D	1	D	0.89917	1.0	D	0.70935	0.971	T	0.48948	-0.8989	10	0.54805	T	0.06	.	18.4937	0.90856	0.0:0.0:1.0:0.0	.	762	Q8WXG9	GPR98_HUMAN	H	762	ENSP00000384582:R762H	ENSP00000296619:R762H	R	+	2	0	GPR98	89974253	1.000000	0.71417	0.987000	0.45799	0.845000	0.48019	7.610000	0.82949	2.358000	0.79984	0.460000	0.39030	CGT		0.398	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2	NM_032119		28	55	0	0	0	1	0	28	55					A	89938497	G	A	89938497	3	1	435	1	0	0	0	0	1	0	0	0	6721	1145	40	1	2331	1	GPR98	5	89938497	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	123772	89938497	90976763	2716	23641											
GPR98	84059	broad.mit.edu	37	chr5	90144541	90144541	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gttctcttattaacccaaagCgcaaggacactaggggattc	12	10	9	10	1	1	0	0	0	1	0	3	2	1	2	1	3	2	2	1	3	5	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:90144541C>T	ENST00000405460.2	+	79	17203	c.17107C>T	c.(17107-17109)Cgc>Tgc	p.R5703C	GPR98_ENST00000425867.2_Missense_Mutation_p.R1364C	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	5703					detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TAACCCAAAGCGCAAGGACAC	0.403																																						ENST00000405460.2																			0				NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269						c.(17107-17109)Cgc>Tgc		G protein-coupled receptor 98							79	73	75					5																	90144541		1821	4082	5903	SO:0001583	missense	84059				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr5:90144541C>T	AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"-", "GPCR / Class B : Orphans"	17416	protein-coding gene	gene with protein product		602851	"monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.17107C>T	5.37:g.90144541C>T	ENSP00000384582:p.Arg5703Cys					GPR98_ENST00000425867.2_Missense_Mutation_p.R1364C	p.R5703C	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)	79	17203	+		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)	5703					O75171|Q8TF58|Q9H0X5|Q9UL61	Missense_Mutation	SNP	ENST00000405460.2	37	c.17107C>T	CCDS47246.1	.	.	.	.	.	.	.	.	.	.	C	27.3	4.821345	0.90873	.	.	ENSG00000164199	ENST00000405460;ENST00000296619;ENST00000425867	T;T	0.42900	0.96;1.14	5.95	5.95	0.96441	.	0.047114	0.85682	D	0.000000	T	0.63402	0.2508	M	0.68952	2.095	0.80722	D	1	D;D;D	0.89917	0.979;1.0;0.988	P;D;P	0.63957	0.709;0.92;0.848	T	0.58808	-0.7571	9	.	.	.	.	20.3932	0.98965	0.0:1.0:0.0:0.0	.	1364;5703;1364	E7EML1;Q8WXG9;Q8WXG9-2	.;GPR98_HUMAN;.	C	5703;5703;1364	ENSP00000384582:R5703C;ENSP00000392618:R1364C	.	R	+	1	0	GPR98	90180297	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	5.476000	0.66793	2.824000	0.97209	0.655000	0.94253	CGC		0.403	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2	NM_032119		13	13	0	0	0	1	0	13	13					T	90144541	C	T	90144541	3	4	435	1	0	0	0	0	1	0	0	0	6721	768	27	1	17421	1	GPR98	5	90144541	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	206044	90144541	90770719	2717	23642											
GPR98	84059	broad.mit.edu	37	chr5	90159576	90159576	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acttttttgttcctacaggtCtttgcttggctgttctttcc	3	21	7	10	0	2	0	0	0	2	0	4	0	4	0	2	2	2	4	2	2	1	9	rs202110635	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:90159576C>A	ENST00000405460.2	+	83	17854	c.17758C>A	c.(17758-17760)Ctt>Att	p.L5920I	GPR98_ENST00000425867.2_Missense_Mutation_p.L1581I	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	5920					detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TCCTACAGGTCTTTGCTTGGC	0.443													C|||	3	0.000599042	0.0023	0	5008	,	,		18326	0		0	False		,,,				2504	0					ENST00000405460.2																			0				NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269						c.(17758-17760)Ctt>Att		G protein-coupled receptor 98		C	ILE/LEU	9,3779		0,9,1885	213	189	196		17758	3.3	1	5		196	0,8244		0,0,4122	yes	missense	GPR98	NM_032119.3	5	0,9,6007	AA,AC,CC		0.0,0.2376,0.0748	probably-damaging	5920/6307	90159576	9,12023	1894	4122	6016	SO:0001583	missense	84059				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr5:90159576C>A	AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"-", "GPCR / Class B : Orphans"	17416	protein-coding gene	gene with protein product		602851	"monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.17758C>A	5.37:g.90159576C>A	ENSP00000384582:p.Leu5920Ile					GPR98_ENST00000425867.2_Missense_Mutation_p.L1581I	p.L5920I	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)	83	17854	+		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)	5920					O75171|Q8TF58|Q9H0X5|Q9UL61	Missense_Mutation	SNP	ENST00000405460.2	37	c.17758C>A	CCDS47246.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	16.46	3.128258	0.56721	0.002376	0.0	ENSG00000164199	ENST00000405460;ENST00000296619;ENST00000425867	T;T	0.41065	1.01;1.01	6.05	3.29	0.37713	GPCR, family 2-like (1);	0.101192	0.64402	D	0.000001	T	0.24470	0.0593	N	0.14661	0.345	0.34568	D	0.713112	B;P;B	0.40000	0.213;0.698;0.178	B;B;B	0.41946	0.138;0.371;0.085	T	0.24512	-1.0158	9	.	.	.	.	6.5284	0.22314	0.0:0.6233:0.0:0.3767	.	1581;5920;1581	E7EML1;Q8WXG9;Q8WXG9-2	.;GPR98_HUMAN;.	I	5920;5920;1581	ENSP00000384582:L5920I;ENSP00000392618:L1581I	.	L	+	1	0	GPR98	90195332	1.000000	0.71417	0.994000	0.49952	0.892000	0.51952	2.755000	0.47540	1.572000	0.49736	0.650000	0.86243	CTT		0.443	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2	NM_032119		27	44	1	0	2.44723e-14	1	2.66926e-14	27	44					A	90159576	C	A	90159576	3	1	435	1	0	0	0	0	1	0	0	0	6721	913	32	5	18088	5	GPR98	5	90159576	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	15035	90159576	90755684	2718	23643											
POU5F2	134187	broad.mit.edu	37	chr5	93077201	93077201	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tcaacccgcaggggcatcggCcctctggggccgcccccacc	5	4	12	20	3	2	0	1	0	1	0	3	0	2	0	6	5	1	2	6	5	1	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:93077201C>T	ENST00000510627.4	-	1	142	c.69G>A	c.(67-69)ggG>ggA	p.G23G	FAM172A_ENST00000505869.1_Intron|POU5F2_ENST00000606183.1_5'Flank|FAM172A_ENST00000509739.1_Intron|FAM172A_ENST00000509163.1_Intron|FAM172A_ENST00000395965.3_Intron|RP11-185E12.2_ENST00000606528.1_RNA	NM_153216.1	NP_694948.1	Q8N7G0	PO5F2_HUMAN	POU domain class 5, transcription factor 2	23					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)						all_cancers(142;3.87e-05)|all_epithelial(76;4.59e-07)|all_lung(232;0.0126)|Lung NSC(167;0.0155)|Ovarian(174;0.0218)|Prostate(281;0.173)|Colorectal(57;0.19)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0415)|all cancers(79;2.03e-19)		GGGGCATCGGCCCTCTGGGGC	0.692																																						ENST00000510627.4																			0											c.(67-69)ggG>ggA		POU domain class 5, transcription factor 2							15	18	17					5																	93077201		1907	4101	6008	SO:0001819	synonymous_variant	134187					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr5:93077201C>T		CCDS59489.1	5q15	2011-06-20				ENSG00000248483		"Homeoboxes / POU class"	26367	protein-coding gene	gene with protein product						7908264	Standard	NM_153216		Approved	SPRM-1, FLJ25680	uc003kkl.1	Q8N7G0		ENST00000510627.4:c.69G>A	5.37:g.93077201C>T						FAM172A_ENST00000395965.3_Intron|FAM172A_ENST00000509739.1_Intron|FAM172A_ENST00000505869.1_Intron|FAM172A_ENST00000509163.1_Intron	p.G23G	NM_153216.1	NP_694948.1	Q8N7G0	PO5F2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (5;0.0415)|all cancers(79;2.03e-19)	1	142	-		all_cancers(142;3.87e-05)|all_epithelial(76;4.59e-07)|all_lung(232;0.0126)|Lung NSC(167;0.0155)|Ovarian(174;0.0218)|Prostate(281;0.173)|Colorectal(57;0.19)	23					Q15169|Q6MZL7|Q8N748	Silent	SNP	ENST00000510627.4	37	c.69G>A	CCDS59489.1																																																																																				0.692	POU5F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369873.5	NM_153216		8	12	0	0	0	1	0	8	12					T	93077201	C	T	93077201	2	4	435	1	0	0	0	0	0	0	0	1	12283	726	26	3		3	POU5F2	5	93077201	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	2917625	93077201	87838059	2719	23644											
FAM172A	83989	broad.mit.edu	37	chr5	93217230	93217230	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggggttacgatacttctcAtagaaatcacgtcgcttctt	9	14	9	9	3	3	1	2	0	2	1	5	2	3	1	0	2	2	2	0	2	4	6			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:93217230A>G	ENST00000395965.3	-	7	874	c.732T>C	c.(730-732)taT>taC	p.Y244Y	FAM172A_ENST00000505869.1_Silent_p.Y134Y|FAM172A_ENST00000509739.1_Silent_p.Y97Y|FAM172A_ENST00000509163.1_Silent_p.Y198Y	NM_032042.5	NP_114431.2	Q8WUF8	F172A_HUMAN	family with sequence similarity 172, member A	244						endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)				endometrium(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)	9						GATACTTCTCATAGAAATCAC	0.348																																						ENST00000395965.3																			0				endometrium(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)	9						c.(730-732)taT>taC		family with sequence similarity 172, member A							201	194	196					5																	93217230		2203	4299	6502	SO:0001819	synonymous_variant	83989					endoplasmic reticulum|extracellular region		g.chr5:93217230A>G		CCDS4069.1, CCDS54879.1, CCDS54880.1	5q15	2008-06-16	2008-06-16	2008-06-16	ENSG00000113391	ENSG00000113391			25365	protein-coding gene	gene with protein product			"chromosome 5 open reading frame 21"	C5orf21		11230166	Standard	NM_032042		Approved	DKFZP564D172	uc010jbd.3	Q8WUF8	OTTHUMG00000131329	ENST00000395965.3:c.732T>C	5.37:g.93217230A>G						FAM172A_ENST00000509739.1_Silent_p.Y97Y|FAM172A_ENST00000505869.1_Silent_p.Y134Y|FAM172A_ENST00000509163.1_Silent_p.Y198Y	p.Y244Y	NM_032042.5	NP_114431.2	Q8WUF8	F172A_HUMAN			7	874	-			244					B2R7C6|B4DJ14|B4DLG5|Q9H0U8	Silent	SNP	ENST00000395965.3	37	c.732T>C	CCDS4069.1																																																																																				0.348	FAM172A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254100.3	NM_032042		39	77	0	0	0	1	0	39	77					G	93217230	A	G	93217230	2	3	435	1	0	0	0	0	0	0	0	1	5492	224	8	4		4	FAM172A	5	93217230	Silent	SNP	A	TCGA-XK-AAIW-01A-11D-A41K-08	140029	93217230	87698030	2720	23645											
ARSK	153642	broad.mit.edu	37	chr5	94903715	94903715	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctaccgaacacagaaattTgggaaactggactatacttc	14	9	9	9	1	0	1	0	0	0	1	1	4	0	3	1	3	4	1	1	3	6	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:94903715T>C	ENST00000380009.4	+	3	583	c.378T>C	c.(376-378)ttT>ttC	p.F126F		NM_198150.2	NP_937793.1	Q6UWY0	ARSK_HUMAN	arylsulfatase family, member K	126					cellular protein metabolic process (GO:0044267)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)			endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|pancreas(1)|skin(1)	16		all_cancers(142;3.38e-06)|all_epithelial(76;6.57e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.00473)		all cancers(79;6.5e-16)		CACAGAAATTTGGGAAACTGG	0.388																																						ENST00000380009.4																			0				endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|pancreas(1)|skin(1)	16						c.(376-378)ttT>ttC		arylsulfatase family, member K							76	76	76					5																	94903715		2203	4300	6503	SO:0001819	synonymous_variant	153642					extracellular region	arylsulfatase activity|metal ion binding	g.chr5:94903715T>C		CCDS4073.1	5q15	2013-02-14	2006-03-07		ENSG00000164291	ENSG00000164291		"Arylsulfatase family"	25239	protein-coding gene	gene with protein product		610011	"arylsulfatase K"			12975309, 16174644	Standard	NM_198150		Approved	DKFZp313G1735, TSULF	uc003kld.3	Q6UWY0	OTTHUMG00000121166	ENST00000380009.4:c.378T>C	5.37:g.94903715T>C							p.F126F	NM_198150.2	NP_937793.1	Q6UWY0	ARSK_HUMAN		all cancers(79;6.5e-16)	3	583	+		all_cancers(142;3.38e-06)|all_epithelial(76;6.57e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.00473)	126					A2BDE3|B4E1I4|Q3ZCW3|Q8N3Q8	Silent	SNP	ENST00000380009.4	37	c.378T>C	CCDS4073.1																																																																																				0.388	ARSK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241652.2	NM_198150		10	25	0	0	0	1	0	10	25					C	94903715	T	C	94903715	2	2	435	1	0	0	0	0	0	0	0	1	996	1809	63	4		4	ARSK	5	94903715	Silent	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	1686485	94903715	86011545	2721	23646											
RHOBTB3	22836	broad.mit.edu	37	chr5	95091127	95091127	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcctgtcttaaaggctgaagCgtcacattataactctgact	11	12	8	10	1	3	2	1	2	2	0	3	2	3	2	1	1	2	1	1	1	5	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:95091127C>T	ENST00000379982.3	+	6	1218	c.710C>T	c.(709-711)gCg>gTg	p.A237V	GLRX_ENST00000508780.1_Intron	NM_014899.3	NP_055714.3	O94955	RHBT3_HUMAN	Rho-related BTB domain containing 3	237					ATP catabolic process (GO:0006200)|retrograde transport, endosome to Golgi (GO:0042147)|small GTPase mediated signal transduction (GO:0007264)	Golgi apparatus (GO:0005794)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|GTP binding (GO:0005525)|Rab GTPase binding (GO:0017137)			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|skin(1)	16		all_cancers(142;2.58e-06)|all_epithelial(76;4.19e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0164)|Colorectal(57;0.0846)|Breast(839;0.198)		all cancers(79;8.79e-16)		AAGGCTGAAGCGTCACATTAT	0.353																																						ENST00000379982.3																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|skin(1)	16						c.(709-711)gCg>gTg		Rho-related BTB domain containing 3							142	142	142					5																	95091127		2203	4300	6503	SO:0001583	missense	22836				retrograde transport, endosome to Golgi	Golgi apparatus	ATP binding|ATPase activity|Rab GTPase binding	g.chr5:95091127C>T	AB020685	CCDS4077.1	5q15	2014-05-09			ENSG00000164292	ENSG00000164292		"BTB/POZ domain containing"	18757	protein-coding gene	gene with protein product		607353				11222756, 17035353	Standard	NM_014899		Approved	KIAA0878	uc003klm.3	O94955	OTTHUMG00000121171	ENST00000379982.3:c.710C>T	5.37:g.95091127C>T	ENSP00000369318:p.Ala237Val					GLRX_ENST00000508780.1_Intron	p.A237V	NM_014899.3	NP_055714.3	O94955	RHBT3_HUMAN		all cancers(79;8.79e-16)	6	1218	+		all_cancers(142;2.58e-06)|all_epithelial(76;4.19e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0164)|Colorectal(57;0.0846)|Breast(839;0.198)	237					A0PJA4|A8K1W9|Q8IW06	Missense_Mutation	SNP	ENST00000379982.3	37	c.710C>T	CCDS4077.1	.	.	.	.	.	.	.	.	.	.	C	19.30	3.801935	0.70682	.	.	ENSG00000164292	ENST00000379982	T	0.71103	-0.54	5.78	5.78	0.91487	BTB/POZ fold (1);	0.103829	0.64402	D	0.000003	T	0.59197	0.2176	N	0.19112	0.55	0.80722	D	1	D	0.63046	0.992	B	0.41466	0.358	T	0.59129	-0.7512	10	0.29301	T	0.29	-18.7858	19.9704	0.97284	0.0:1.0:0.0:0.0	.	237	O94955	RHBT3_HUMAN	V	237	ENSP00000369318:A237V	ENSP00000369318:A237V	A	+	2	0	RHOBTB3	95116883	0.999000	0.42202	0.983000	0.44433	0.316000	0.28119	3.539000	0.53604	2.894000	0.99253	0.591000	0.81541	GCG		0.353	RHOBTB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241658.1	NM_014899		48	87	0	0	0	1	0	48	87					T	95091127	C	T	95091127	3	4	435	1	0	0	0	0	1	0	0	0	13335	768	27	1	732	1	RHOBTB3	5	95091127	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	187412	95091127	85824133	2722	23647											
RHOBTB3	22836	broad.mit.edu	37	chr5	95091344	95091344	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caggatctttttgctataaaCagagatactgcatttccagg	12	13	8	8	0	1	1	0	0	1	1	2	3	2	2	1	2	4	2	1	2	4	6			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:95091344C>G	ENST00000379982.3	+	6	1435	c.927C>G	c.(925-927)aaC>aaG	p.N309K	GLRX_ENST00000508780.1_Intron	NM_014899.3	NP_055714.3	O94955	RHBT3_HUMAN	Rho-related BTB domain containing 3	309	BTB 1. {ECO:0000255|PROSITE- ProRule:PRU00037}.				ATP catabolic process (GO:0006200)|retrograde transport, endosome to Golgi (GO:0042147)|small GTPase mediated signal transduction (GO:0007264)	Golgi apparatus (GO:0005794)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|GTP binding (GO:0005525)|Rab GTPase binding (GO:0017137)			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|skin(1)	16		all_cancers(142;2.58e-06)|all_epithelial(76;4.19e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0164)|Colorectal(57;0.0846)|Breast(839;0.198)		all cancers(79;8.79e-16)		TTGCTATAAACAGAGATACTG	0.428																																						ENST00000379982.3																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|skin(1)	16						c.(925-927)aaC>aaG		Rho-related BTB domain containing 3							99	95	96					5																	95091344		2203	4300	6503	SO:0001583	missense	22836				retrograde transport, endosome to Golgi	Golgi apparatus	ATP binding|ATPase activity|Rab GTPase binding	g.chr5:95091344C>G	AB020685	CCDS4077.1	5q15	2014-05-09			ENSG00000164292	ENSG00000164292		"BTB/POZ domain containing"	18757	protein-coding gene	gene with protein product		607353				11222756, 17035353	Standard	NM_014899		Approved	KIAA0878	uc003klm.3	O94955	OTTHUMG00000121171	ENST00000379982.3:c.927C>G	5.37:g.95091344C>G	ENSP00000369318:p.Asn309Lys					GLRX_ENST00000508780.1_Intron	p.N309K	NM_014899.3	NP_055714.3	O94955	RHBT3_HUMAN		all cancers(79;8.79e-16)	6	1435	+		all_cancers(142;2.58e-06)|all_epithelial(76;4.19e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0164)|Colorectal(57;0.0846)|Breast(839;0.198)	309			BTB 1.		A0PJA4|A8K1W9|Q8IW06	Missense_Mutation	SNP	ENST00000379982.3	37	c.927C>G	CCDS4077.1	.	.	.	.	.	.	.	.	.	.	C	6.983	0.551382	0.13374	.	.	ENSG00000164292	ENST00000379982	T	0.62364	0.03	6.08	5.22	0.72569	BTB/POZ-like (2);BTB/POZ (1);	0.496244	0.24810	N	0.035414	T	0.42539	0.1207	N	0.19112	0.55	0.27960	N	0.936822	B	0.13145	0.007	B	0.18871	0.023	T	0.23655	-1.0182	10	0.05959	T	0.93	-26.1183	11.7908	0.52068	0.0:0.8091:0.1233:0.0676	.	309	O94955	RHBT3_HUMAN	K	309	ENSP00000369318:N309K	ENSP00000369318:N309K	N	+	3	2	RHOBTB3	95117100	0.007000	0.16637	0.748000	0.31131	0.871000	0.50021	1.530000	0.36007	1.586000	0.49944	0.591000	0.81541	AAC		0.428	RHOBTB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241658.1	NM_014899		28	42	0	0	0	1	0	28	42					G	95091344	C	G	95091344	3	3	435	1	0	0	0	0	1	0	0	0	13335	477	17	5	949	5	RHOBTB3	5	95091344	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	217	95091344	85823916	2723	23648											
PCSK1	5122	broad.mit.edu	37	chr5	95730639	95730639	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gttgtaggacgtgtacacacGaggctgcttcatatgctctg	8	12	12	9	2	2	0	1	0	1	0	2	2	2	1	0	2	3	6	0	2	3	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:95730639G>A	ENST00000311106.3	-	13	2050	c.1813C>T	c.(1813-1815)Cgt>Tgt	p.R605C	PCSK1_ENST00000508626.1_Missense_Mutation_p.R558C|CTD-2337A12.1_ENST00000502645.2_RNA|PCSK1_ENST00000513085.1_5'UTR	NM_000439.4|NM_001177876.1	NP_000430.3|NP_001171347.1	P29120	NEC1_HUMAN	proprotein convertase subtilisin/kexin type 1	605					cell-cell signaling (GO:0007267)|cellular protein metabolic process (GO:0044267)|metabolic process (GO:0008152)|peptide biosynthetic process (GO:0043043)|peptide hormone processing (GO:0016486)|proteolysis (GO:0006508)|regulation of insulin secretion (GO:0050796)	extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|secretory granule lumen (GO:0034774)	serine-type endopeptidase activity (GO:0004252)			NS(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	36		all_cancers(142;2.67e-06)|all_epithelial(76;6.92e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0112)|Colorectal(57;0.0341)|Breast(839;0.244)		all cancers(79;3.44e-16)	"""Insulin(DB00071)|Insulin Regular(DB00030)"	GTGTACACACGAGGCTGCTTC	0.478																																						ENST00000311106.3																			0				NS(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	36						c.(1813-1815)Cgt>Tgt		proprotein convertase subtilisin/kexin type 1	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)						233	203	213					5																	95730639		2203	4300	6503	SO:0001583	missense	5122				cell-cell signaling|cellular nitrogen compound metabolic process|energy reserve metabolic process|hormone biosynthetic process|peptide biosynthetic process|peptide hormone processing|regulation of insulin secretion	extracellular space|stored secretory granule|transport vesicle	serine-type endopeptidase activity	g.chr5:95730639G>A		CCDS4081.1, CCDS54881.1	5q15-q21	2008-07-18			ENSG00000175426	ENSG00000175426			8743	protein-coding gene	gene with protein product	"prohormone convertase 3", "prohormone convertase 1", "neuroendocrine convertase 1", "proprotein convertase 1"	162150		NEC1		1765368	Standard	NM_000439		Approved	PC1, PC3, SPC3	uc003kls.2	P29120	OTTHUMG00000122089	ENST00000311106.3:c.1813C>T	5.37:g.95730639G>A	ENSP00000308024:p.Arg605Cys					PCSK1_ENST00000508626.1_Missense_Mutation_p.R558C|CTD-2337A12.1_ENST00000502645.2_RNA|PCSK1_ENST00000513085.1_5'UTR	p.R605C	NM_000439.4|NM_001177876.1	NP_000430.3|NP_001171347.1	P29120	NEC1_HUMAN		all cancers(79;3.44e-16)	13	2050	-		all_cancers(142;2.67e-06)|all_epithelial(76;6.92e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0112)|Colorectal(57;0.0341)|Breast(839;0.244)	605					B7Z8T7|E9PHA1|P78478|Q92532	Missense_Mutation	SNP	ENST00000311106.3	37	c.1813C>T	CCDS4081.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.265855	0.80358	.	.	ENSG00000175426	ENST00000311106;ENST00000508626	T;T	0.69306	-0.24;-0.39	6.06	6.06	0.98353	.	0.000000	0.85682	D	0.000000	T	0.79563	0.4467	M	0.63843	1.955	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.79108	0.927;0.992	T	0.79860	-0.1625	10	0.66056	D	0.02	-13.761	15.0004	0.71466	0.0:0.0:0.8575:0.1425	.	558;605	E9PHA1;P29120	.;NEC1_HUMAN	C	605;558	ENSP00000308024:R605C;ENSP00000421600:R558C	ENSP00000308024:R605C	R	-	1	0	PCSK1	95756395	1.000000	0.71417	0.939000	0.37840	0.975000	0.68041	3.359000	0.52292	2.871000	0.98454	0.655000	0.94253	CGT		0.478	PCSK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000242851.1	NM_000439		40	58	0	0	0	1	0	40	58					A	95730639	G	A	95730639	3	1	435	1	0	0	0	0	1	0	0	0	11600	1058	37	2	456	2	PCSK1	5	95730639	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	639295	95730639	85184621	2724	23649											
CAST	831	broad.mit.edu	37	chr5	96011269	96011269	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtgaaaaaaccagtgaatcGccttccaaaccaggagaaaa	19	5	8	9	1	0	3	0	2	0	1	2	4	1	3	4	1	2	0	4	1	7	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:96011269G>A	ENST00000510756.1	+	2	102	c.102G>A	c.(100-102)tcG>tcA	p.S34S	CAST_ENST00000508830.1_Silent_p.S34S|CAST_ENST00000395812.2_Silent_p.S34S|CAST_ENST00000359176.4_Silent_p.S34S|CAST_ENST00000338252.3_5'UTR|CAST_ENST00000325674.7_Silent_p.S34S|CAST_ENST00000508608.1_Silent_p.S19S|CAST_ENST00000395813.1_Silent_p.S34S			P20810	ICAL_HUMAN	calpastatin	384					negative regulation of endopeptidase activity (GO:0010951)|negative regulation of type B pancreatic cell apoptotic process (GO:2000675)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)	cysteine-type endopeptidase inhibitor activity (GO:0004869)|endopeptidase inhibitor activity (GO:0004866)|poly(A) RNA binding (GO:0044822)	p.?(1)		breast(1)|central_nervous_system(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(5)|ovary(1)|skin(2)	22		all_cancers(142;5.27e-07)|all_epithelial(76;8.21e-10)|all_lung(232;0.000396)|Lung NSC(167;0.000539)|Ovarian(225;0.024)|Colorectal(57;0.0341)|Breast(839;0.244)		all cancers(79;6.85e-15)		CCAGTGAATCGCCTTCCAAAC	0.353																																						ENST00000395813.1																			1	Unknown(1)	p.?(1)	central_nervous_system(1)	breast(1)|central_nervous_system(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(5)|ovary(1)|skin(2)	22						c.(100-102)tcG>tcA		calpastatin							142	129	133					5																	96011269		1824	4073	5897	SO:0001819	synonymous_variant	831						calcium-dependent cysteine-type endopeptidase inhibitor activity|protein binding	g.chr5:96011269G>A	AF327443	CCDS4082.1, CCDS54882.1, CCDS54883.1, CCDS75279.1	5q15	2012-09-20			ENSG00000153113	ENSG00000153113			1515	protein-coding gene	gene with protein product		114090				8340353, 14685690, 15820218	Standard	NM_173060		Approved		uc003klx.3	P20810	OTTHUMG00000128413	ENST00000510756.1:c.102G>A	5.37:g.96011269G>A						CAST_ENST00000338252.3_5'UTR|CAST_ENST00000508830.1_Silent_p.S34S|CAST_ENST00000325674.7_Silent_p.S34S|CAST_ENST00000510756.1_Silent_p.S34S|CAST_ENST00000395812.2_Silent_p.S34S|CAST_ENST00000508608.1_Silent_p.S19S|CAST_ENST00000359176.4_Silent_p.S34S	p.S34S			P20810	ICAL_HUMAN		all cancers(79;6.85e-15)	2	288	+		all_cancers(142;5.27e-07)|all_epithelial(76;8.21e-10)|all_lung(232;0.000396)|Lung NSC(167;0.000539)|Ovarian(225;0.024)|Colorectal(57;0.0341)|Breast(839;0.244)	99					B7Z468|G5E946|G5E9D3|O95360|Q05DE8|Q7Z4K0|Q96D08|Q9H1Z5	Silent	SNP	ENST00000510756.1	37	c.102G>A	CCDS54882.1	.	.	.	.	.	.	.	.	.	.	G	5.369	0.253397	0.10185	.	.	ENSG00000153113	ENST00000512620	.	.	.	4.77	-5.21	0.02815	.	.	.	.	.	T	0.35278	0.0926	.	.	.	0.19300	N	0.999971	.	.	.	.	.	.	T	0.38929	-0.9638	4	.	.	.	-0.8378	13.8212	0.63322	0.8436:0.0:0.1564:0.0	.	.	.	.	H	17	.	.	R	+	2	0	CAST	96037025	0.008000	0.16893	0.135000	0.22099	0.655000	0.38815	-0.453000	0.06778	-0.919000	0.03803	-0.145000	0.13849	CGC		0.353	CAST-010	PUTATIVE	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000370546.1	NM_173062		4	55	0	0	0	1	0	4	55					A	96011269	G	A	96011269	2	1	435	1	0	0	0	0	0	0	0	1	2684	1074	38	1		1	CAST	5	96011269	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	280630	96011269	84903991	2725	23650											
ERAP1	51752	broad.mit.edu	37	chr5	96119711	96119711	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcattcaaaccttgaaacaCgggcataatttcagtttcat	13	13	5	10	1	4	1	4	1	0	0	4	1	4	1	1	1	2	2	1	1	3	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:96119711C>T	ENST00000443439.2	-	14	2083	c.2017G>A	c.(2017-2019)Gtg>Atg	p.V673M	ERAP1_ENST00000296754.3_Missense_Mutation_p.V673M|ERAP1_ENST00000514604.1_5'UTR|CTD-2260A17.1_ENST00000512856.1_RNA|CTD-2260A17.1_ENST00000602972.1_RNA	NM_001040458.1|NM_001198541.1	NP_001035548.1|NP_001185470.1	Q9NZ08	ERAP1_HUMAN	endoplasmic reticulum aminopeptidase 1	673					angiogenesis (GO:0001525)|antigen processing and presentation of endogenous peptide antigen via MHC class I (GO:0019885)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|fat cell differentiation (GO:0045444)|membrane protein ectodomain proteolysis (GO:0006509)|positive regulation of angiogenesis (GO:0045766)|regulation of blood pressure (GO:0008217)|regulation of innate immune response (GO:0045088)|response to bacterium (GO:0009617)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	aminopeptidase activity (GO:0004177)|interleukin-1, Type II receptor binding (GO:0005151)|interleukin-6 receptor binding (GO:0005138)|metalloexopeptidase activity (GO:0008235)|zinc ion binding (GO:0008270)			endometrium(7)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|stomach(2)	19		all_cancers(142;1.75e-06)|all_epithelial(76;3.08e-09)|all_lung(232;0.000435)|Lung NSC(167;0.000601)|Ovarian(225;0.024)|Colorectal(57;0.0432)|Breast(839;0.244)		all cancers(79;7.26e-15)|COAD - Colon adenocarcinoma(37;0.071)		CCTTGAAACACGGGCATAATT	0.383																																						ENST00000296754.3																			0				endometrium(7)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|stomach(2)	19						c.(2017-2019)Gtg>Atg		endoplasmic reticulum aminopeptidase 1							116	110	112					5																	96119711		2203	4300	6503	SO:0001583	missense	51752				angiogenesis|antigen processing and presentation of endogenous peptide antigen via MHC class I|fat cell differentiation|membrane protein ectodomain proteolysis|regulation of blood pressure|regulation of innate immune response|response to bacterium	cytosol|endoplasmic reticulum lumen|endoplasmic reticulum membrane|extracellular region|integral to membrane	aminopeptidase activity|interleukin-1, Type II receptor binding|interleukin-6 receptor binding|metalloexopeptidase activity|zinc ion binding	g.chr5:96119711C>T	AB011097	CCDS4085.1, CCDS47250.1	5q15	2014-04-07			ENSG00000164307	ENSG00000164307			18173	protein-coding gene	gene with protein product	"aminopeptidase regulator of TNFR1 shedding", "adipocyte-derived leucine aminopeptidase", "puromycin-insensitive leucyl-specific aminopeptidase"	606832				10220586, 12189246, 16286653	Standard	NM_001198541		Approved	ARTS-1, A-LAP, PILS-AP, KIAA0525, ERAAP1	uc003kml.3	Q9NZ08	OTTHUMG00000128721	ENST00000443439.2:c.2017G>A	5.37:g.96119711C>T	ENSP00000406304:p.Val673Met					ERAP1_ENST00000514604.1_5'UTR|ERAP1_ENST00000443439.2_Missense_Mutation_p.V673M	p.V673M	NM_016442.3	NP_057526.3	Q9NZ08	ERAP1_HUMAN		all cancers(79;7.26e-15)|COAD - Colon adenocarcinoma(37;0.071)	14	2274	-		all_cancers(142;1.75e-06)|all_epithelial(76;3.08e-09)|all_lung(232;0.000435)|Lung NSC(167;0.000601)|Ovarian(225;0.024)|Colorectal(57;0.0432)|Breast(839;0.244)	673					O60278|Q6UWY6|Q8NEL4|Q8TAD0|Q9UHF8|Q9UKY2	Missense_Mutation	SNP	ENST00000443439.2	37	c.2017G>A	CCDS47250.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.136403	0.77662	.	.	ENSG00000164307	ENST00000296754;ENST00000443439;ENST00000414384	T;T	0.06528	3.29;3.29	5.83	4.95	0.65309	.	0.463064	0.22445	N	0.059980	T	0.21761	0.0524	M	0.73962	2.25	0.42532	D	0.993045	D;D;D	0.76494	0.986;0.999;0.999	B;D;D	0.68039	0.288;0.955;0.939	T	0.00619	-1.1641	10	0.48119	T	0.1	.	11.2604	0.49080	0.0:0.8473:0.0:0.1527	.	673;673;673	A8K6H1;Q9NZ08;Q9NZ08-2	.;ERAP1_HUMAN;.	M	673	ENSP00000296754:V673M;ENSP00000406304:V673M	ENSP00000296754:V673M	V	-	1	0	ERAP1	96145467	0.958000	0.32768	0.789000	0.31954	0.900000	0.52787	2.171000	0.42453	1.443000	0.47586	0.650000	0.86243	GTG		0.383	ERAP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370699.1	NM_016442		21	34	0	0	0	1	0	21	34					T	96119711	C	T	96119711	3	4	435	1	0	0	0	0	1	0	0	0	5203	536	19	1	865	1	ERAP1	5	96119711	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	108442	96119711	84795549	2726	23651											
LNPEP	4012	broad.mit.edu	37	chr5	96315335	96315335	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagatcaggcttcccactgcCgttgtgccactacgctatga	8	10	9	14	2	1	2	1	1	0	1	2	2	2	2	3	1	3	3	3	1	2	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:96315335C>T	ENST00000231368.5	+	2	1205	c.513C>T	c.(511-513)gcC>gcT	p.A171A	LNPEP_ENST00000395770.3_Silent_p.A157A	NM_005575.2	NP_005566.2	Q9UIQ6	LCAP_HUMAN	leucyl/cystinyl aminopeptidase	171					antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cell-cell signaling (GO:0007267)|female pregnancy (GO:0007565)|membrane organization (GO:0061024)|protein catabolic process (GO:0030163)|protein polyubiquitination (GO:0000209)|proteolysis (GO:0006508)	cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|early endosome lumen (GO:0031905)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	34		all_cancers(142;7e-07)|all_epithelial(76;9.52e-10)|all_lung(232;0.00101)|Lung NSC(167;0.00137)|Ovarian(225;0.024)|Colorectal(57;0.0269)|Breast(839;0.244)		COAD - Colon adenocarcinoma(37;0.072)		TTCCCACTGCCGTTGTGCCAC	0.463																																						ENST00000231368.5																			0				breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	34						c.(511-513)gcC>gcT		leucyl/cystinyl aminopeptidase							100	96	97					5																	96315335		2203	4300	6503	SO:0001819	synonymous_variant	4012				cell-cell signaling|female pregnancy|proteolysis	extracellular region|integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding	g.chr5:96315335C>T	D50810	CCDS4087.1, CCDS43346.1	5q15	2011-07-25			ENSG00000113441	ENSG00000113441	3.4.11.3		6656	protein-coding gene	gene with protein product	"cystinyl aminopeptidase", "placental leucine aminopeptidase"	151300				8550619	Standard	NM_175920		Approved	CAP, PLAP, P-LAP	uc003kmw.1	Q9UIQ6	OTTHUMG00000128719	ENST00000231368.5:c.513C>T	5.37:g.96315335C>T						LNPEP_ENST00000395770.3_Silent_p.A157A	p.A171A	NM_005575.2	NP_005566.2	Q9UIQ6	LCAP_HUMAN		COAD - Colon adenocarcinoma(37;0.072)	2	1205	+		all_cancers(142;7e-07)|all_epithelial(76;9.52e-10)|all_lung(232;0.00101)|Lung NSC(167;0.00137)|Ovarian(225;0.024)|Colorectal(57;0.0269)|Breast(839;0.244)	171					O00769|Q15145|Q59H76|Q9TNQ2|Q9TNQ3|Q9UIQ7	Silent	SNP	ENST00000231368.5	37	c.513C>T	CCDS4087.1																																																																																				0.463	LNPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250624.1	NM_005575		31	45	0	0	0	1	0	31	45					T	96315335	C	T	96315335	2	4	435	1	0	0	0	0	0	0	0	1	8864	639	23	2		2	LNPEP	5	96315335	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	195624	96315335	84599925	2727	23652											
RGMB	285704	broad.mit.edu	37	chr5	98128863	98128863	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gctgtgacagatgacctgccGgccgcctttgtggatggcac	6	9	14	12	2	0	3	0	2	0	1	0	4	0	4	4	3	1	2	4	3	0	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:98128863G>A	ENST00000513185.1	+	3	1156	c.720G>A	c.(718-720)ccG>ccA	p.P240P	RGMB_ENST00000308234.7_Silent_p.P281P			Q6NW40	RGMB_HUMAN	repulsive guidance molecule family member b	240					axon guidance (GO:0007411)|BMP signaling pathway (GO:0030509)|cell adhesion (GO:0007155)|positive regulation of transcription, DNA-templated (GO:0045893)|signal transduction (GO:0007165)	anchored component of plasma membrane (GO:0046658)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)	identical protein binding (GO:0042802)			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(2)|upper_aerodigestive_tract(1)	10		all_cancers(142;2.76e-08)|all_epithelial(76;2.98e-11)|all_lung(232;0.000485)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|Ovarian(225;0.024)|Colorectal(57;0.117)		COAD - Colon adenocarcinoma(37;0.0587)		ATGACCTGCCGGCCGCCTTTG	0.542																																						ENST00000308234.7																			0				haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(2)|upper_aerodigestive_tract(1)	10						c.(841-843)ccG>ccA		repulsive guidance molecule family member b							44	45	44					5																	98128863		2056	4195	6251	SO:0001819	synonymous_variant	285704				axon guidance|BMP signaling pathway|cell adhesion|positive regulation of transcription, DNA-dependent	anchored to plasma membrane|ER-Golgi intermediate compartment|membrane raft	identical protein binding	g.chr5:98128863G>A	AK074887	CCDS47251.1	5q21.1	2013-11-06	2013-11-06		ENSG00000174136	ENSG00000174136			26896	protein-coding gene	gene with protein product		612687	"RGM domain family, member B"			19324014	Standard	NM_001012761		Approved	FLJ90406, DRAGON	uc003knc.3	Q6NW40	OTTHUMG00000162745	ENST00000513185.1:c.720G>A	5.37:g.98128863G>A						RGMB_ENST00000513185.1_Silent_p.P240P	p.P281P	NM_001012761.2	NP_001012779.2	Q6NW40	RGMB_HUMAN		COAD - Colon adenocarcinoma(37;0.0587)	5	1245	+		all_cancers(142;2.76e-08)|all_epithelial(76;2.98e-11)|all_lung(232;0.000485)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|Ovarian(225;0.024)|Colorectal(57;0.117)	240					D6R9A0|Q8NC92	Silent	SNP	ENST00000513185.1	37	c.843G>A																																																																																					0.542	RGMB-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000370308.1	NM_173670		10	8	0	0	0	1	0	10	8					A	98128863	G	A	98128863	2	1	435	1	0	0	0	0	0	0	0	1	13281	1103	39	2		2	RGMB	5	98128863	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	1813528	98128863	82786397	2728	23653											
CHD1	1105	broad.mit.edu	37	chr5	98192225	98192225	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gaagctctgtggtccatttgCcagtctgagtgatacctata	9	13	10	9	0	2	2	0	2	2	0	3	3	3	2	3	1	3	1	3	1	4	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:98192225C>T	ENST00000284049.3	-	35	5141	c.4992G>A	c.(4990-4992)tgG>tgA	p.W1664*		NM_001270.2	NP_001261.2	O14646	CHD1_HUMAN	chromodomain helicase DNA binding protein 1	1664					chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|methylated histone binding (GO:0035064)			NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	49		all_cancers(142;5.36e-08)|all_epithelial(76;6.97e-11)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|all_lung(232;0.00119)|Ovarian(225;0.024)|Colorectal(57;0.117)		COAD - Colon adenocarcinoma(37;0.0717)	Epirubicin(DB00445)	GGTCCATTTGCCAGTCTGAGT	0.458																																						ENST00000284049.3																			0				NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	49						c.(4990-4992)tgG>tgA		chromodomain helicase DNA binding protein 1	Epirubicin(DB00445)						118	110	113					5																	98192225		2203	4299	6502	SO:0001587	stop_gained	1105				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|methylated histone residue binding	g.chr5:98192225C>T	AF006513	CCDS34204.1	5q15-q21	2008-07-18			ENSG00000153922	ENSG00000153922			1915	protein-coding gene	gene with protein product		602118				8460153, 9326634	Standard	XM_005271866		Approved		uc003knf.3	O14646	OTTHUMG00000162744	ENST00000284049.3:c.4992G>A	5.37:g.98192225C>T	ENSP00000284049:p.Trp1664*						p.W1664*	NM_001270.2	NP_001261.2	O14646	CHD1_HUMAN		COAD - Colon adenocarcinoma(37;0.0717)	35	5141	-		all_cancers(142;5.36e-08)|all_epithelial(76;6.97e-11)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|all_lung(232;0.00119)|Ovarian(225;0.024)|Colorectal(57;0.117)	1664					Q17RZ3	Nonsense_Mutation	SNP	ENST00000284049.3	37	c.4992G>A	CCDS34204.1	.	.	.	.	.	.	.	.	.	.	C	44	10.676241	0.99448	.	.	ENSG00000153922	ENST00000422663;ENST00000284049	.	.	.	5.55	5.55	0.83447	.	0.000000	0.32703	U	0.005755	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.36615	T	0.2	.	19.5027	0.95103	0.0:1.0:0.0:0.0	.	.	.	.	X	254;1664	.	ENSP00000284049:W1664X	W	-	3	0	CHD1	98220125	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.085000	0.76875	2.601000	0.87937	0.655000	0.94253	TGG		0.458	CHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370295.1	NM_001270		4	38	0	0	0	1	0	4	38					T	98192225	C	T	98192225	4	4	435	1	0	0	0	0	0	1	0	0	3323	740	26	3	144	3	CHD1	5	98192225	Nonsense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	63362	98192225	82723035	2729	23654											
CHD1	1105	broad.mit.edu	37	chr5	98192375	98192375	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttccaaatttgacctgtgAtctctactcctgtgatcatc	8	15	5	13	0	2	3	1	3	1	0	6	3	4	3	4	0	1	0	4	0	2	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:98192375A>G	ENST00000284049.3	-	35	4991	c.4842T>C	c.(4840-4842)gaT>gaC	p.D1614D		NM_001270.2	NP_001261.2	O14646	CHD1_HUMAN	chromodomain helicase DNA binding protein 1	1614					chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|methylated histone binding (GO:0035064)			NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	49		all_cancers(142;5.36e-08)|all_epithelial(76;6.97e-11)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|all_lung(232;0.00119)|Ovarian(225;0.024)|Colorectal(57;0.117)		COAD - Colon adenocarcinoma(37;0.0717)	Epirubicin(DB00445)	TTGACCTGTGATCTCTACTCC	0.353																																						ENST00000284049.3																			0				NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	49						c.(4840-4842)gaT>gaC		chromodomain helicase DNA binding protein 1	Epirubicin(DB00445)						98	93	95					5																	98192375		2203	4300	6503	SO:0001819	synonymous_variant	1105				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|methylated histone residue binding	g.chr5:98192375A>G	AF006513	CCDS34204.1	5q15-q21	2008-07-18			ENSG00000153922	ENSG00000153922			1915	protein-coding gene	gene with protein product		602118				8460153, 9326634	Standard	XM_005271866		Approved		uc003knf.3	O14646	OTTHUMG00000162744	ENST00000284049.3:c.4842T>C	5.37:g.98192375A>G							p.D1614D	NM_001270.2	NP_001261.2	O14646	CHD1_HUMAN		COAD - Colon adenocarcinoma(37;0.0717)	35	4991	-		all_cancers(142;5.36e-08)|all_epithelial(76;6.97e-11)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|all_lung(232;0.00119)|Ovarian(225;0.024)|Colorectal(57;0.117)	1614					Q17RZ3	Silent	SNP	ENST00000284049.3	37	c.4842T>C	CCDS34204.1																																																																																				0.353	CHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370295.1	NM_001270		9	17	0	0	0	1	0	9	17					G	98192375	A	G	98192375	2	3	435	1	0	0	0	0	0	0	0	1	3323	330	12	4		4	CHD1	5	98192375	Silent	SNP	A	TCGA-XK-AAIW-01A-11D-A41K-08	150	98192375	82722885	2730	23655											
CHD1	1105	broad.mit.edu	37	chr5	98195690	98195690	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtttacctgagactcctgccGttttttaatagcatgcttat	8	17	7	9	1	0	1	0	1	0	1	1	2	1	1	3	0	4	4	3	0	4	7			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:98195690G>A	ENST00000284049.3	-	32	4659	c.4510C>T	c.(4510-4512)Cgg>Tgg	p.R1504W		NM_001270.2	NP_001261.2	O14646	CHD1_HUMAN	chromodomain helicase DNA binding protein 1	1504					chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|methylated histone binding (GO:0035064)			NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	49		all_cancers(142;5.36e-08)|all_epithelial(76;6.97e-11)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|all_lung(232;0.00119)|Ovarian(225;0.024)|Colorectal(57;0.117)		COAD - Colon adenocarcinoma(37;0.0717)	Epirubicin(DB00445)	GACTCCTGCCGTTTTTTAATA	0.264																																						ENST00000284049.3																			0				NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	49						c.(4510-4512)Cgg>Tgg		chromodomain helicase DNA binding protein 1	Epirubicin(DB00445)						38	42	41					5																	98195690		2191	4283	6474	SO:0001583	missense	1105				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|methylated histone residue binding	g.chr5:98195690G>A	AF006513	CCDS34204.1	5q15-q21	2008-07-18			ENSG00000153922	ENSG00000153922			1915	protein-coding gene	gene with protein product		602118				8460153, 9326634	Standard	XM_005271866		Approved		uc003knf.3	O14646	OTTHUMG00000162744	ENST00000284049.3:c.4510C>T	5.37:g.98195690G>A	ENSP00000284049:p.Arg1504Trp						p.R1504W	NM_001270.2	NP_001261.2	O14646	CHD1_HUMAN		COAD - Colon adenocarcinoma(37;0.0717)	32	4659	-		all_cancers(142;5.36e-08)|all_epithelial(76;6.97e-11)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|all_lung(232;0.00119)|Ovarian(225;0.024)|Colorectal(57;0.117)	1504					Q17RZ3	Missense_Mutation	SNP	ENST00000284049.3	37	c.4510C>T	CCDS34204.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.240270	0.79912	.	.	ENSG00000153922	ENST00000422663;ENST00000284049	D	0.91464	-2.85	5.08	5.08	0.68730	.	0.000000	0.31554	U	0.007448	D	0.94282	0.8163	L	0.56769	1.78	0.58432	D	0.999994	D	0.89917	1.0	D	0.71414	0.973	D	0.94772	0.7946	10	0.87932	D	0	.	18.8348	0.92157	0.0:0.0:1.0:0.0	.	1504	O14646	CHD1_HUMAN	W	94;1504	ENSP00000284049:R1504W	ENSP00000284049:R1504W	R	-	1	2	CHD1	98223590	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.466000	0.45084	2.514000	0.84764	0.650000	0.86243	CGG		0.264	CHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370295.1	NM_001270		14	28	0	0	0	1	0	14	28					A	98195690	G	A	98195690	3	1	435	1	0	0	0	0	1	0	0	0	3323	1144	40	1	638	1	CHD1	5	98195690	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	3315	98195690	82719570	2731	23656											
SLCO6A1	133482	broad.mit.edu	37	chr5	101834537	101834537	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcccagagtgccgggcgacGcctacgaacatggctcaccc	8	5	11	17	4	1	1	1	0	0	1	2	3	2	1	4	2	3	1	4	2	2	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:101834537G>A	ENST00000506729.1	-	1	183	c.12C>T	c.(10-12)ggC>ggT	p.G4G	SLCO6A1_ENST00000379807.3_Silent_p.G4G|SLCO6A1_ENST00000514551.1_5'Flank|SLCO6A1_ENST00000379810.1_Silent_p.G4G|SLCO6A1_ENST00000513675.1_Silent_p.G4G|SLCO6A1_ENST00000389019.3_Silent_p.G4G|RP11-58B2.1_ENST00000502494.1_RNA			Q86UG4	SO6A1_HUMAN	solute carrier organic anion transporter family, member 6A1	4						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(17)|lung(22)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	60		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)		GCCGGGCGACGCCTACGAACA	0.701																																						ENST00000506729.1																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(17)|lung(22)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						c.(10-12)ggC>ggT		solute carrier organic anion transporter family, member 6A1							58	69	65					5																	101834537		2200	4288	6488	SO:0001819	synonymous_variant	133482					integral to membrane|plasma membrane	transporter activity	g.chr5:101834537G>A	AF505657	CCDS34206.1, CCDS75282.1	5q21.2	2013-05-22			ENSG00000205359	ENSG00000205359		"Solute carriers"	23613	protein-coding gene	gene with protein product	"cancer/testis antigen 48"	613365					Standard	XM_005271874		Approved	OATP6A1, OATPY, MGC26949, CT48	uc003knp.3	Q86UG4	OTTHUMG00000162759	ENST00000506729.1:c.12C>T	5.37:g.101834537G>A						SLCO6A1_ENST00000379810.1_Silent_p.G4G|SLCO6A1_ENST00000513675.1_Silent_p.G4G|SLCO6A1_ENST00000379807.3_Silent_p.G4G|SLCO6A1_ENST00000389019.3_Silent_p.G4G	p.G4G			Q86UG4	SO6A1_HUMAN		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)	1	183	-		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)	4					A6NHC1|Q6ZMY5|Q86UV2|Q8IYU5	Silent	SNP	ENST00000506729.1	37	c.12C>T	CCDS34206.1																																																																																				0.701	SLCO6A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370335.1	NM_173488		53	81	0	0	0	1	0	53	81					A	101834537	G	A	101834537	2	1	435	1	0	0	0	0	0	0	0	1	14732	1074	38	1		1	SLCO6A1	5	101834537	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	3638847	101834537	79080723	2732	23657											
PPIP5K2	23262	broad.mit.edu	37	chr5	102472454	102472454	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aggatttccactggacaaagCggttgcctatgcaaaactca	13	9	9	10	1	1	0	1	0	0	0	2	2	2	2	2	3	4	2	2	3	4	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:102472454C>T	ENST00000358359.3	+	4	838	c.329C>T	c.(328-330)gCg>gTg	p.A110V	PPIP5K2_ENST00000513500.1_3'UTR|PPIP5K2_ENST00000321521.9_Missense_Mutation_p.A110V|PPIP5K2_ENST00000414217.1_Missense_Mutation_p.A110V	NM_001276277.1	NP_001263206.1	O43314	VIP2_HUMAN	diphosphoinositol pentakisphosphate kinase 2	110					inositol metabolic process (GO:0006020)|inositol phosphate metabolic process (GO:0043647)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	acid phosphatase activity (GO:0003993)|ATP binding (GO:0005524)|diphosphoinositol-pentakisphosphate kinase activity (GO:0033857)|inositol hexakisphosphate 1-kinase activity (GO:0052723)|inositol hexakisphosphate 3-kinase activity (GO:0052724)|inositol hexakisphosphate 5-kinase activity (GO:0000832)|inositol-1,3,4,5,6-pentakisphosphate kinase activity (GO:0000827)			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						CTGGACAAAGCGGTTGCCTAT	0.353																																						ENST00000321521.9																			0				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						c.(328-330)gCg>gTg		diphosphoinositol pentakisphosphate kinase 2							166	181	176					5																	102472454		2203	4300	6503	SO:0001583	missense	23262				inositol metabolic process	cytosol	acid phosphatase activity|ATP binding|diphosphoinositol-pentakisphosphate kinase activity|inositol 1,3,4,5,6-pentakisphosphate kinase activity|inositol hexakisphosphate 5-kinase activity	g.chr5:102472454C>T	AB007893	CCDS34207.1, CCDS64212.1, CCDS75283.1	5q21.1	2014-05-06	2010-01-26	2010-01-26	ENSG00000145725	ENSG00000145725	2.7.4.24		29035	protein-coding gene	gene with protein product		611648	"histidine acid phosphatase domain containing 1"	HISPPD1		9455477, 17690096, 18981179	Standard	NM_001276277		Approved	KIAA0433, VIP2	uc003koe.4	O43314	OTTHUMG00000181461	ENST00000358359.3:c.329C>T	5.37:g.102472454C>T	ENSP00000351126:p.Ala110Val					PPIP5K2_ENST00000414217.1_Missense_Mutation_p.A110V|PPIP5K2_ENST00000513500.1_3'UTR|PPIP5K2_ENST00000358359.3_Missense_Mutation_p.A110V	p.A110V			O43314	VIP2_HUMAN			4	902	+			110					A1NI53|A6NGS8|Q8TB50	Missense_Mutation	SNP	ENST00000358359.3	37	c.329C>T		.	.	.	.	.	.	.	.	.	.	C	27.7	4.856446	0.91355	.	.	ENSG00000145725	ENST00000321521;ENST00000507921;ENST00000358359;ENST00000451606;ENST00000414217;ENST00000507310	T;T;T	0.28255	1.66;1.62;1.66	5.43	5.43	0.79202	.	0.167210	0.40818	N	0.001001	T	0.54647	0.1871	M	0.80028	2.48	0.80722	D	1	D;D;D	0.76494	0.995;0.999;0.994	B;P;B	0.56514	0.411;0.8;0.387	T	0.58567	-0.7614	10	0.56958	D	0.05	-5.3725	19.5837	0.95482	0.0:1.0:0.0:0.0	.	32;110;110	D6RBU4;O43314-2;O43314	.;.;VIP2_HUMAN	V	110;32;110;110;110;40	ENSP00000313070:A110V;ENSP00000351126:A110V;ENSP00000416016:A110V	ENSP00000313070:A110V	A	+	2	0	PPIP5K2	102500353	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.445000	0.80570	2.702000	0.92279	0.467000	0.42956	GCG		0.353	PPIP5K2-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000370487.1	NM_015216		51	82	0	0	0	1	0	51	82					T	102472454	C	T	102472454	3	4	435	1	0	0	0	0	1	0	0	0	12333	768	27	1	339	1	PPIP5K2	5	102472454	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	637917	102472454	78442806	2733	23658											
PPIP5K2	23262	broad.mit.edu	37	chr5	102487001	102487001	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttacgggccaatggacagtcCtatgtctgtgatgtcaatgg	9	12	12	8	1	2	1	1	1	1	0	3	2	3	2	2	3	1	0	2	3	4	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:102487001C>A	ENST00000358359.3	+	9	1460	c.951C>A	c.(949-951)tcC>tcA	p.S317S	PPIP5K2_ENST00000513500.1_3'UTR|PPIP5K2_ENST00000321521.9_Silent_p.S317S|PPIP5K2_ENST00000414217.1_Silent_p.S317S	NM_001276277.1	NP_001263206.1	O43314	VIP2_HUMAN	diphosphoinositol pentakisphosphate kinase 2	317					inositol metabolic process (GO:0006020)|inositol phosphate metabolic process (GO:0043647)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	acid phosphatase activity (GO:0003993)|ATP binding (GO:0005524)|diphosphoinositol-pentakisphosphate kinase activity (GO:0033857)|inositol hexakisphosphate 1-kinase activity (GO:0052723)|inositol hexakisphosphate 3-kinase activity (GO:0052724)|inositol hexakisphosphate 5-kinase activity (GO:0000832)|inositol-1,3,4,5,6-pentakisphosphate kinase activity (GO:0000827)			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						ATGGACAGTCCTATGTCTGTG	0.294																																						ENST00000321521.9																			0				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						c.(949-951)tcC>tcA		diphosphoinositol pentakisphosphate kinase 2							98	103	101					5																	102487001		2203	4300	6503	SO:0001819	synonymous_variant	23262				inositol metabolic process	cytosol	acid phosphatase activity|ATP binding|diphosphoinositol-pentakisphosphate kinase activity|inositol 1,3,4,5,6-pentakisphosphate kinase activity|inositol hexakisphosphate 5-kinase activity	g.chr5:102487001C>A	AB007893	CCDS34207.1, CCDS64212.1, CCDS75283.1	5q21.1	2014-05-06	2010-01-26	2010-01-26	ENSG00000145725	ENSG00000145725	2.7.4.24		29035	protein-coding gene	gene with protein product		611648	"histidine acid phosphatase domain containing 1"	HISPPD1		9455477, 17690096, 18981179	Standard	NM_001276277		Approved	KIAA0433, VIP2	uc003koe.4	O43314	OTTHUMG00000181461	ENST00000358359.3:c.951C>A	5.37:g.102487001C>A						PPIP5K2_ENST00000414217.1_Silent_p.S317S|PPIP5K2_ENST00000513500.1_3'UTR|PPIP5K2_ENST00000358359.3_Silent_p.S317S	p.S317S			O43314	VIP2_HUMAN			9	1524	+			317					A1NI53|A6NGS8|Q8TB50	Silent	SNP	ENST00000358359.3	37	c.951C>A																																																																																					0.294	PPIP5K2-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000370487.1	NM_015216		33	53	1	0	1.36615e-20	1	1.51493e-20	33	53					A	102487001	C	A	102487001	2	1	435	1	0	0	0	0	0	0	0	1	12333	668	24	5		5	PPIP5K2	5	102487001	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	14547	102487001	78428259	2734	23659											
PPIP5K2	23262	broad.mit.edu	37	chr5	102490635	102490635	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaacttgaacaacttaagaCtgtattagagatgtgagtat	17	12	8	4	0	0	4	0	2	0	2	0	5	0	4	0	0	3	2	0	0	8	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:102490635C>T	ENST00000358359.3	+	13	1900	c.1391C>T	c.(1390-1392)aCt>aTt	p.T464I	PPIP5K2_ENST00000513500.1_3'UTR|PPIP5K2_ENST00000321521.9_Missense_Mutation_p.T464I|PPIP5K2_ENST00000414217.1_Missense_Mutation_p.T464I	NM_001276277.1	NP_001263206.1	O43314	VIP2_HUMAN	diphosphoinositol pentakisphosphate kinase 2	464					inositol metabolic process (GO:0006020)|inositol phosphate metabolic process (GO:0043647)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	acid phosphatase activity (GO:0003993)|ATP binding (GO:0005524)|diphosphoinositol-pentakisphosphate kinase activity (GO:0033857)|inositol hexakisphosphate 1-kinase activity (GO:0052723)|inositol hexakisphosphate 3-kinase activity (GO:0052724)|inositol hexakisphosphate 5-kinase activity (GO:0000832)|inositol-1,3,4,5,6-pentakisphosphate kinase activity (GO:0000827)			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						CAACTTAAGACTGTATTAGAG	0.323																																						ENST00000321521.9																			0				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						c.(1390-1392)aCt>aTt		diphosphoinositol pentakisphosphate kinase 2							73	73	73					5																	102490635		2203	4298	6501	SO:0001583	missense	23262				inositol metabolic process	cytosol	acid phosphatase activity|ATP binding|diphosphoinositol-pentakisphosphate kinase activity|inositol 1,3,4,5,6-pentakisphosphate kinase activity|inositol hexakisphosphate 5-kinase activity	g.chr5:102490635C>T	AB007893	CCDS34207.1, CCDS64212.1, CCDS75283.1	5q21.1	2014-05-06	2010-01-26	2010-01-26	ENSG00000145725	ENSG00000145725	2.7.4.24		29035	protein-coding gene	gene with protein product		611648	"histidine acid phosphatase domain containing 1"	HISPPD1		9455477, 17690096, 18981179	Standard	NM_001276277		Approved	KIAA0433, VIP2	uc003koe.4	O43314	OTTHUMG00000181461	ENST00000358359.3:c.1391C>T	5.37:g.102490635C>T	ENSP00000351126:p.Thr464Ile					PPIP5K2_ENST00000414217.1_Missense_Mutation_p.T464I|PPIP5K2_ENST00000513500.1_3'UTR|PPIP5K2_ENST00000358359.3_Missense_Mutation_p.T464I	p.T464I			O43314	VIP2_HUMAN			13	1964	+			464					A1NI53|A6NGS8|Q8TB50	Missense_Mutation	SNP	ENST00000358359.3	37	c.1391C>T		.	.	.	.	.	.	.	.	.	.	C	20.3	3.964545	0.74131	.	.	ENSG00000145725	ENST00000321521;ENST00000507921;ENST00000358359;ENST00000451606;ENST00000414217	T;T;T;T	0.30448	1.53;1.53;1.53;1.53	5.11	5.11	0.69529	.	0.000000	0.64402	D	0.000002	T	0.44052	0.1275	L	0.50333	1.59	0.80722	D	1	B;B;P	0.40211	0.302;0.055;0.707	B;B;P	0.49421	0.275;0.061;0.61	T	0.38585	-0.9654	10	0.72032	D	0.01	.	18.8932	0.92413	0.0:1.0:0.0:0.0	.	386;464;464	D6RBU4;O43314-2;O43314	.;.;VIP2_HUMAN	I	464;386;464;464;464	ENSP00000313070:T464I;ENSP00000422525:T386I;ENSP00000351126:T464I;ENSP00000416016:T464I	ENSP00000313070:T464I	T	+	2	0	PPIP5K2	102518534	1.000000	0.71417	0.991000	0.47740	0.701000	0.40568	4.898000	0.63238	2.523000	0.85059	0.655000	0.94253	ACT		0.323	PPIP5K2-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000370487.1	NM_015216		23	36	0	0	0	1	0	23	36					T	102490635	C	T	102490635	3	4	435	1	0	0	0	0	1	0	0	0	12333	565	20	3	1437	3	PPIP5K2	5	102490635	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	3634	102490635	78424625	2735	23660											
PPIP5K2	23262	broad.mit.edu	37	chr5	102509648	102509648	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcatgtacattctttgctgtCtattcttcgctatggtgcct	5	19	7	10	1	4	0	1	0	3	0	5	0	4	0	1	1	3	3	1	1	3	7			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:102509648C>A	ENST00000358359.3	+	21	3010	c.2501C>A	c.(2500-2502)tCt>tAt	p.S834Y	PPIP5K2_ENST00000513500.1_3'UTR|PPIP5K2_ENST00000321521.9_Missense_Mutation_p.S834Y|PPIP5K2_ENST00000414217.1_Missense_Mutation_p.S834Y	NM_001276277.1	NP_001263206.1	O43314	VIP2_HUMAN	diphosphoinositol pentakisphosphate kinase 2	834					inositol metabolic process (GO:0006020)|inositol phosphate metabolic process (GO:0043647)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	acid phosphatase activity (GO:0003993)|ATP binding (GO:0005524)|diphosphoinositol-pentakisphosphate kinase activity (GO:0033857)|inositol hexakisphosphate 1-kinase activity (GO:0052723)|inositol hexakisphosphate 3-kinase activity (GO:0052724)|inositol hexakisphosphate 5-kinase activity (GO:0000832)|inositol-1,3,4,5,6-pentakisphosphate kinase activity (GO:0000827)			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						TCTTTGCTGTCTATTCTTCGC	0.308																																						ENST00000321521.9																			0				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						c.(2500-2502)tCt>tAt		diphosphoinositol pentakisphosphate kinase 2							153	150	151					5																	102509648		2203	4299	6502	SO:0001583	missense	23262				inositol metabolic process	cytosol	acid phosphatase activity|ATP binding|diphosphoinositol-pentakisphosphate kinase activity|inositol 1,3,4,5,6-pentakisphosphate kinase activity|inositol hexakisphosphate 5-kinase activity	g.chr5:102509648C>A	AB007893	CCDS34207.1, CCDS64212.1, CCDS75283.1	5q21.1	2014-05-06	2010-01-26	2010-01-26	ENSG00000145725	ENSG00000145725	2.7.4.24		29035	protein-coding gene	gene with protein product		611648	"histidine acid phosphatase domain containing 1"	HISPPD1		9455477, 17690096, 18981179	Standard	NM_001276277		Approved	KIAA0433, VIP2	uc003koe.4	O43314	OTTHUMG00000181461	ENST00000358359.3:c.2501C>A	5.37:g.102509648C>A	ENSP00000351126:p.Ser834Tyr					PPIP5K2_ENST00000414217.1_Missense_Mutation_p.S834Y|PPIP5K2_ENST00000513500.1_3'UTR|PPIP5K2_ENST00000358359.3_Missense_Mutation_p.S834Y	p.S834Y			O43314	VIP2_HUMAN			21	3074	+			834					A1NI53|A6NGS8|Q8TB50	Missense_Mutation	SNP	ENST00000358359.3	37	c.2501C>A		.	.	.	.	.	.	.	.	.	.	C	18.95	3.731239	0.69189	.	.	ENSG00000145725	ENST00000321521;ENST00000358359;ENST00000451606;ENST00000414217;ENST00000509597	T;T;T;T	0.33216	1.42;1.42;1.42;1.42	6.05	6.05	0.98169	.	0.000000	0.64402	D	0.000001	T	0.51109	0.1655	L	0.53249	1.67	0.44570	D	0.997537	D;D;D	0.65815	0.994;0.982;0.995	D;P;D	0.68943	0.961;0.891;0.934	T	0.46176	-0.9210	10	0.87932	D	0	.	16.0198	0.80473	0.0:0.8665:0.1335:0.0	.	834;834;834	E9PGM8;O43314-2;O43314	.;.;VIP2_HUMAN	Y	834;834;834;834;108	ENSP00000313070:S834Y;ENSP00000351126:S834Y;ENSP00000416016:S834Y;ENSP00000424948:S108Y	ENSP00000313070:S834Y	S	+	2	0	PPIP5K2	102537547	0.225000	0.23685	0.954000	0.39281	0.941000	0.58515	1.730000	0.38125	2.866000	0.98385	0.650000	0.86243	TCT		0.308	PPIP5K2-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000370487.1	NM_015216		25	27	1	0	1.66031e-10	1	1.77558e-10	25	27					A	102509648	C	A	102509648	3	1	435	1	0	0	0	0	1	0	0	0	12333	913	32	5	2579	5	PPIP5K2	5	102509648	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	19013	102509648	78405612	2736	23661											
PPIP5K2	23262	broad.mit.edu	37	chr5	102522033	102522033	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cccatcagggtctcactgtgCgggcctgtttagcacctcgg	5	10	12	14	2	2	0	2	0	1	0	4	0	2	0	3	3	2	2	3	3	1	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:102522033C>T	ENST00000358359.3	+	27	3691	c.3182C>T	c.(3181-3183)gCg>gTg	p.A1061V	PPIP5K2_ENST00000513500.1_3'UTR|PPIP5K2_ENST00000321521.9_Missense_Mutation_p.A1061V|PPIP5K2_ENST00000414217.1_Missense_Mutation_p.A1061V	NM_001276277.1	NP_001263206.1	O43314	VIP2_HUMAN	diphosphoinositol pentakisphosphate kinase 2	1061					inositol metabolic process (GO:0006020)|inositol phosphate metabolic process (GO:0043647)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	acid phosphatase activity (GO:0003993)|ATP binding (GO:0005524)|diphosphoinositol-pentakisphosphate kinase activity (GO:0033857)|inositol hexakisphosphate 1-kinase activity (GO:0052723)|inositol hexakisphosphate 3-kinase activity (GO:0052724)|inositol hexakisphosphate 5-kinase activity (GO:0000832)|inositol-1,3,4,5,6-pentakisphosphate kinase activity (GO:0000827)			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						TCTCACTGTGCGGGCCTGTTT	0.488																																						ENST00000321521.9																			0				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						c.(3181-3183)gCg>gTg		diphosphoinositol pentakisphosphate kinase 2							108	100	102					5																	102522033		2203	4300	6503	SO:0001583	missense	23262				inositol metabolic process	cytosol	acid phosphatase activity|ATP binding|diphosphoinositol-pentakisphosphate kinase activity|inositol 1,3,4,5,6-pentakisphosphate kinase activity|inositol hexakisphosphate 5-kinase activity	g.chr5:102522033C>T	AB007893	CCDS34207.1, CCDS64212.1, CCDS75283.1	5q21.1	2014-05-06	2010-01-26	2010-01-26	ENSG00000145725	ENSG00000145725	2.7.4.24		29035	protein-coding gene	gene with protein product		611648	"histidine acid phosphatase domain containing 1"	HISPPD1		9455477, 17690096, 18981179	Standard	NM_001276277		Approved	KIAA0433, VIP2	uc003koe.4	O43314	OTTHUMG00000181461	ENST00000358359.3:c.3182C>T	5.37:g.102522033C>T	ENSP00000351126:p.Ala1061Val					PPIP5K2_ENST00000414217.1_Missense_Mutation_p.A1061V|PPIP5K2_ENST00000513500.1_3'UTR|PPIP5K2_ENST00000358359.3_Missense_Mutation_p.A1061V	p.A1061V			O43314	VIP2_HUMAN			27	3755	+			1061					A1NI53|A6NGS8|Q8TB50	Missense_Mutation	SNP	ENST00000358359.3	37	c.3182C>T		.	.	.	.	.	.	.	.	.	.	C	23.7	4.450518	0.84101	.	.	ENSG00000145725	ENST00000321521;ENST00000358359;ENST00000451606;ENST00000414217	T;T;T	0.15256	2.44;2.44;2.44	5.81	5.81	0.92471	.	0.000000	0.64402	D	0.000005	T	0.22475	0.0542	L	0.55481	1.735	0.53688	D	0.999976	P;P	0.50528	0.936;0.894	B;B	0.42462	0.388;0.217	T	0.00972	-1.1495	10	0.29301	T	0.29	-6.8529	20.0795	0.97766	0.0:1.0:0.0:0.0	.	1061;1061	O43314-2;O43314	.;VIP2_HUMAN	V	1061;1061;1076;1061	ENSP00000313070:A1061V;ENSP00000351126:A1061V;ENSP00000416016:A1061V	ENSP00000313070:A1061V	A	+	2	0	PPIP5K2	102549932	1.000000	0.71417	1.000000	0.80357	1.000000	0.99986	6.070000	0.71220	2.747000	0.94245	0.650000	0.86243	GCG		0.488	PPIP5K2-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000370487.1	NM_015216		15	13	0	0	0	1	0	15	13					T	102522033	C	T	102522033	3	4	435	1	0	0	0	0	1	0	0	0	12333	768	27	1	3284	1	PPIP5K2	5	102522033	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	12385	102522033	78393227	2737	23662											
C5orf30	90355	broad.mit.edu	37	chr5	102611808	102611808	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ggactctaactatttggttgGcttcacgactggcgaggaac	9	11	12	9	2	2	0	1	0	1	0	2	4	2	2	0	5	2	2	0	5	3	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:102611808G>A	ENST00000319933.2	+	3	496	c.188G>A	c.(187-189)gGc>gAc	p.G63D	C5orf30_ENST00000515669.1_Missense_Mutation_p.G63D|C5orf30_ENST00000510890.1_Missense_Mutation_p.G63D	NM_033211.2	NP_149988.1	Q96GV9	CE030_HUMAN	chromosome 5 open reading frame 30	63					cilium morphogenesis (GO:0060271)|protein transport (GO:0015031)	ciliary transition zone (GO:0035869)|cytoplasm (GO:0005737)				NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)	9		all_cancers(142;2.22e-05)|all_epithelial(76;9.54e-08)|Prostate(80;0.0174)|Colorectal(57;0.0551)|Ovarian(225;0.11)|Lung NSC(167;0.136)|all_lung(232;0.18)		Epithelial(69;2.84e-14)|COAD - Colon adenocarcinoma(37;0.00762)		TATTTGGTTGGCTTCACGACT	0.557																																						ENST00000319933.2																			0				NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)	9						c.(187-189)gGc>gAc		chromosome 5 open reading frame 30							82	66	71					5																	102611808		2203	4300	6503	SO:0001583	missense	90355							g.chr5:102611808G>A		CCDS4095.1	5q21.1	2012-02-23			ENSG00000181751	ENSG00000181751			25052	protein-coding gene	gene with protein product						22085962	Standard	NM_033211		Approved	FLJ25291	uc003kog.1	Q96GV9	OTTHUMG00000128738	ENST00000319933.2:c.188G>A	5.37:g.102611808G>A	ENSP00000326110:p.Gly63Asp					C5orf30_ENST00000515669.1_Missense_Mutation_p.G63D|C5orf30_ENST00000510890.1_Missense_Mutation_p.G63D	p.G63D	NM_033211.2	NP_149988.1	Q96GV9	CE030_HUMAN		Epithelial(69;2.84e-14)|COAD - Colon adenocarcinoma(37;0.00762)	3	496	+		all_cancers(142;2.22e-05)|all_epithelial(76;9.54e-08)|Prostate(80;0.0174)|Colorectal(57;0.0551)|Ovarian(225;0.11)|Lung NSC(167;0.136)|all_lung(232;0.18)	63						Missense_Mutation	SNP	ENST00000319933.2	37	c.188G>A	CCDS4095.1	.	.	.	.	.	.	.	.	.	.	G	29.4	5.002425	0.93227	.	.	ENSG00000181751	ENST00000319933;ENST00000515669;ENST00000510890	.	.	.	6.06	6.06	0.98353	.	0.057572	0.64402	D	0.000001	T	0.66015	0.2747	L	0.29908	0.895	0.80722	D	1	D	0.67145	0.996	P	0.60345	0.873	T	0.67264	-0.5714	9	0.87932	D	0	-22.3104	20.6208	0.99490	0.0:0.0:1.0:0.0	.	63	Q96GV9	CE030_HUMAN	D	63	.	ENSP00000326110:G63D	G	+	2	0	C5orf30	102639707	1.000000	0.71417	1.000000	0.80357	0.824000	0.46624	8.938000	0.92943	2.882000	0.98803	0.655000	0.94253	GGC		0.557	C5orf30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250649.1	NM_033211		13	24	0	0	0	1	0	13	24					A	102611808	G	A	102611808	3	1	435	1	0	0	0	0	1	0	0	0	2290	1203	42	3	190	3	C5orf30	5	102611808	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	89775	102611808	78303452	2738	23663											
MAN2A1	4124	broad.mit.edu	37	chr5	109117131	109117131	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tttatcagatttttttgatgCgctggataaagcagatgaaa	13	15	9	4	1	1	4	1	2	0	2	1	5	1	5	0	1	2	2	0	1	4	6			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:109117131C>T	ENST00000261483.4	+	9	2461	c.1409C>T	c.(1408-1410)gCg>gTg	p.A470V		NM_002372.2	NP_002363.2	Q16706	MA2A1_HUMAN	mannosidase, alpha, class 2A, member 1	470					cellular protein metabolic process (GO:0044267)|in utero embryonic development (GO:0001701)|liver development (GO:0001889)|lung alveolus development (GO:0048286)|mannose metabolic process (GO:0006013)|mitochondrion organization (GO:0007005)|N-glycan processing (GO:0006491)|positive regulation of neurogenesis (GO:0050769)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|respiratory gaseous exchange (GO:0007585)|retina morphogenesis in camera-type eye (GO:0060042)|vacuole organization (GO:0007033)	cis-Golgi network (GO:0005801)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)|hydrolase activity, hydrolyzing N-glycosyl compounds (GO:0016799)|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity (GO:0004572)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|endometrium(7)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_cancers(142;8.66e-07)|all_epithelial(76;7.73e-09)|Prostate(80;0.000303)|Lung NSC(167;0.0186)|all_lung(232;0.0241)|Ovarian(225;0.0444)|Colorectal(57;0.0959)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;2.17e-10)|Epithelial(69;1.37e-09)|COAD - Colon adenocarcinoma(37;0.141)		TTTTTTGATGCGCTGGATAAA	0.328																																						ENST00000261483.4																			0				breast(2)|central_nervous_system(2)|endometrium(7)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	55						c.(1408-1410)gCg>gTg		mannosidase, alpha, class 2A, member 1							82	81	82					5																	109117131		2202	4300	6502	SO:0001583	missense	4124				mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding	g.chr5:109117131C>T		CCDS34209.1	5q21.3	2013-09-20			ENSG00000112893	ENSG00000112893	3.2.1.114		6824	protein-coding gene	gene with protein product	"golgi integral membrane protein 7"	154582		MANA2		1757461, 15004235	Standard	NM_002372		Approved	GOLIM7	uc003kou.1	Q16706	OTTHUMG00000162834	ENST00000261483.4:c.1409C>T	5.37:g.109117131C>T	ENSP00000261483:p.Ala470Val						p.A470V	NM_002372.2	NP_002363.2	Q16706	MA2A1_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;2.17e-10)|Epithelial(69;1.37e-09)|COAD - Colon adenocarcinoma(37;0.141)	9	2461	+		all_cancers(142;8.66e-07)|all_epithelial(76;7.73e-09)|Prostate(80;0.000303)|Lung NSC(167;0.0186)|all_lung(232;0.0241)|Ovarian(225;0.0444)|Colorectal(57;0.0959)|Breast(839;0.244)	470					Q16767	Missense_Mutation	SNP	ENST00000261483.4	37	c.1409C>T	CCDS34209.1	.	.	.	.	.	.	.	.	.	.	C	36	5.794835	0.96952	.	.	ENSG00000112893	ENST00000261483	T	0.29655	1.56	5.91	5.91	0.95273	Glycoside hydrolase/deacetylase, beta/alpha-barrel (1);Glycoside hydrolase, family 38, core (2);	0.000000	0.85682	D	0.000000	T	0.64724	0.2624	H	0.94264	3.515	0.80722	D	1	D	0.61080	0.989	P	0.56751	0.805	T	0.74100	-0.3774	10	0.62326	D	0.03	-18.1165	20.3011	0.98612	0.0:1.0:0.0:0.0	.	470	Q16706	MA2A1_HUMAN	V	470	ENSP00000261483:A470V	ENSP00000261483:A470V	A	+	2	0	MAN2A1	109145030	1.000000	0.71417	0.971000	0.41717	0.949000	0.60115	5.704000	0.68347	2.804000	0.96469	0.650000	0.86243	GCG		0.328	MAN2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370680.1			16	24	0	0	0	1	0	16	24					T	109117131	C	T	109117131	3	4	435	1	0	0	0	0	1	0	0	0	9214	768	27	1	1443	1	MAN2A1	5	109117131	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	6505323	109117131	71798129	2739	23664											
WDR36	134430	broad.mit.edu	37	chr5	110434431	110434431	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atgttttagatagtacatacCtttaagggtcataaggcaga	14	13	9	5	0	1	2	1	0	0	2	1	2	1	2	1	2	2	3	1	2	6	8			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:110434431C>A	ENST00000513710.2	+	4	475	c.471C>A	c.(469-471)acC>acA	p.T157T	WDR36_ENST00000506538.2_Silent_p.T157T|WDR36_ENST00000505303.1_Silent_p.T101T			Q8NI36	WDR36_HUMAN	WD repeat domain 36	157					regulation of axon extension (GO:0030516)|response to stimulus (GO:0050896)|retina homeostasis (GO:0001895)|rRNA processing (GO:0006364)|visual perception (GO:0007601)	nucleus (GO:0005634)|small-subunit processome (GO:0032040)	poly(A) RNA binding (GO:0044822)			cervix(1)|endometrium(9)|kidney(4)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(142;2.72e-05)|all_epithelial(76;4.4e-07)|Prostate(80;0.00955)|Lung NSC(167;0.0418)|Ovarian(225;0.0443)|Colorectal(57;0.0465)|all_lung(232;0.0508)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;1.39e-08)|Epithelial(69;1.82e-07)|all cancers(49;2.04e-05)|COAD - Colon adenocarcinoma(37;0.111)		TAGTACATACCTTTAAGGGTC	0.318																																						ENST00000506538.2																			0				cervix(1)|endometrium(9)|kidney(4)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						c.(469-471)acC>acA		WD repeat domain 36							115	110	112					5																	110434431		2202	4299	6501	SO:0001819	synonymous_variant	134430				response to stimulus|rRNA processing|visual perception	small-subunit processome		g.chr5:110434431C>A	AF385437	CCDS4102.1	5q22.2	2013-01-09			ENSG00000134987	ENSG00000134987		"WD repeat domain containing"	30696	protein-coding gene	gene with protein product		609669	"glaucoma 1, open angle, G"	GLC1G		15590835, 15677485	Standard	NM_139281		Approved	TA-WDRP, UTP21	uc003kpd.3	Q8NI36	OTTHUMG00000128790	ENST00000513710.2:c.471C>A	5.37:g.110434431C>A						WDR36_ENST00000505303.1_Silent_p.T101T|WDR36_ENST00000513710.2_Silent_p.T157T	p.T157T	NM_139281.2	NP_644810.1	Q8NI36	WDR36_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;1.39e-08)|Epithelial(69;1.82e-07)|all cancers(49;2.04e-05)|COAD - Colon adenocarcinoma(37;0.111)	4	1044	+		all_cancers(142;2.72e-05)|all_epithelial(76;4.4e-07)|Prostate(80;0.00955)|Lung NSC(167;0.0418)|Ovarian(225;0.0443)|Colorectal(57;0.0465)|all_lung(232;0.0508)|Breast(839;0.244)	157					A2RUS4|Q68E02|Q8N1Q2	Silent	SNP	ENST00000513710.2	37	c.471C>A	CCDS4102.1																																																																																				0.318	WDR36-008	NOVEL	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000373504.3	NM_139281		14	33	1	0	0.000151284	1	0.000155038	14	33					A	110434431	C	A	110434431	2	1	435	1	0	0	0	0	0	0	0	1	17287	668	24	5		5	WDR36	5	110434431	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	1317300	110434431	70480829	2740	23665											
WDR36	134430	broad.mit.edu	37	chr5	110439987	110439987	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tgcacactctacagcaattgCcggactgacatttctccata	11	11	6	13	1	2	1	0	1	2	0	3	2	2	2	2	1	4	2	2	1	3	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:110439987C>T	ENST00000513710.2	+	8	1014	c.1010C>T	c.(1009-1011)gCc>gTc	p.A337V	WDR36_ENST00000506538.2_Missense_Mutation_p.A337V|WDR36_ENST00000505303.1_Missense_Mutation_p.A281V			Q8NI36	WDR36_HUMAN	WD repeat domain 36	337					regulation of axon extension (GO:0030516)|response to stimulus (GO:0050896)|retina homeostasis (GO:0001895)|rRNA processing (GO:0006364)|visual perception (GO:0007601)	nucleus (GO:0005634)|small-subunit processome (GO:0032040)	poly(A) RNA binding (GO:0044822)			cervix(1)|endometrium(9)|kidney(4)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(142;2.72e-05)|all_epithelial(76;4.4e-07)|Prostate(80;0.00955)|Lung NSC(167;0.0418)|Ovarian(225;0.0443)|Colorectal(57;0.0465)|all_lung(232;0.0508)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;1.39e-08)|Epithelial(69;1.82e-07)|all cancers(49;2.04e-05)|COAD - Colon adenocarcinoma(37;0.111)		ACAGCAATTGCCGGACTGACA	0.428																																						ENST00000506538.2																			0				cervix(1)|endometrium(9)|kidney(4)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						c.(1009-1011)gCc>gTc		WD repeat domain 36							144	143	143					5																	110439987		2202	4300	6502	SO:0001583	missense	134430				response to stimulus|rRNA processing|visual perception	small-subunit processome		g.chr5:110439987C>T	AF385437	CCDS4102.1	5q22.2	2013-01-09			ENSG00000134987	ENSG00000134987		"WD repeat domain containing"	30696	protein-coding gene	gene with protein product		609669	"glaucoma 1, open angle, G"	GLC1G		15590835, 15677485	Standard	NM_139281		Approved	TA-WDRP, UTP21	uc003kpd.3	Q8NI36	OTTHUMG00000128790	ENST00000513710.2:c.1010C>T	5.37:g.110439987C>T	ENSP00000424628:p.Ala337Val					WDR36_ENST00000505303.1_Missense_Mutation_p.A281V|WDR36_ENST00000513710.2_Missense_Mutation_p.A337V	p.A337V	NM_139281.2	NP_644810.1	Q8NI36	WDR36_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;1.39e-08)|Epithelial(69;1.82e-07)|all cancers(49;2.04e-05)|COAD - Colon adenocarcinoma(37;0.111)	8	1583	+		all_cancers(142;2.72e-05)|all_epithelial(76;4.4e-07)|Prostate(80;0.00955)|Lung NSC(167;0.0418)|Ovarian(225;0.0443)|Colorectal(57;0.0465)|all_lung(232;0.0508)|Breast(839;0.244)	337					A2RUS4|Q68E02|Q8N1Q2	Missense_Mutation	SNP	ENST00000513710.2	37	c.1010C>T	CCDS4102.1	.	.	.	.	.	.	.	.	.	.	C	35	5.487038	0.96323	.	.	ENSG00000134987	ENST00000506538;ENST00000513710;ENST00000505303	T;T;T	0.27890	1.64;1.64;3.35	5.68	5.68	0.88126	WD40/YVTN repeat-like-containing domain (1);Quinonprotein alcohol dehydrogenase-like (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.141103	0.64402	D	0.000005	T	0.41073	0.1143	L	0.38175	1.15	0.80722	D	1	D	0.54047	0.964	P	0.52823	0.71	T	0.16748	-1.0392	10	0.87932	D	0	-9.2604	19.7349	0.96200	0.0:1.0:0.0:0.0	.	337	Q8NI36	WDR36_HUMAN	V	337;337;281	ENSP00000423067:A337V;ENSP00000424628:A337V;ENSP00000422158:A281V	ENSP00000422158:A281V	A	+	2	0	WDR36	110467886	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.714000	0.84703	2.843000	0.97960	0.585000	0.79938	GCC		0.428	WDR36-008	NOVEL	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000373504.3	NM_139281		26	115	0	0	0	1	0	26	115					T	110439987	C	T	110439987	3	4	435	1	0	0	0	0	1	0	0	0	17287	739	26	3	1040	3	WDR36	5	110439987	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	5556	110439987	70475273	2741	23666											
WDR36	134430	broad.mit.edu	37	chr5	110446962	110446962	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gagttttctggacaccaaggCcaaataaatgacatggtaaa	16	9	9	7	0	1	1	0	1	1	0	1	3	1	2	2	3	0	2	2	3	6	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:110446962C>T	ENST00000513710.2	+	15	1873	c.1869C>T	c.(1867-1869)ggC>ggT	p.G623G	WDR36_ENST00000506538.2_Silent_p.G623G|WDR36_ENST00000505303.1_Silent_p.G567G			Q8NI36	WDR36_HUMAN	WD repeat domain 36	623					regulation of axon extension (GO:0030516)|response to stimulus (GO:0050896)|retina homeostasis (GO:0001895)|rRNA processing (GO:0006364)|visual perception (GO:0007601)	nucleus (GO:0005634)|small-subunit processome (GO:0032040)	poly(A) RNA binding (GO:0044822)			cervix(1)|endometrium(9)|kidney(4)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(142;2.72e-05)|all_epithelial(76;4.4e-07)|Prostate(80;0.00955)|Lung NSC(167;0.0418)|Ovarian(225;0.0443)|Colorectal(57;0.0465)|all_lung(232;0.0508)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;1.39e-08)|Epithelial(69;1.82e-07)|all cancers(49;2.04e-05)|COAD - Colon adenocarcinoma(37;0.111)		GACACCAAGGCCAAATAAATG	0.368																																						ENST00000506538.2																			0				cervix(1)|endometrium(9)|kidney(4)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						c.(1867-1869)ggC>ggT		WD repeat domain 36							125	134	131					5																	110446962		2202	4300	6502	SO:0001819	synonymous_variant	134430				response to stimulus|rRNA processing|visual perception	small-subunit processome		g.chr5:110446962C>T	AF385437	CCDS4102.1	5q22.2	2013-01-09			ENSG00000134987	ENSG00000134987		"WD repeat domain containing"	30696	protein-coding gene	gene with protein product		609669	"glaucoma 1, open angle, G"	GLC1G		15590835, 15677485	Standard	NM_139281		Approved	TA-WDRP, UTP21	uc003kpd.3	Q8NI36	OTTHUMG00000128790	ENST00000513710.2:c.1869C>T	5.37:g.110446962C>T						WDR36_ENST00000505303.1_Silent_p.G567G|WDR36_ENST00000513710.2_Silent_p.G623G	p.G623G	NM_139281.2	NP_644810.1	Q8NI36	WDR36_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;1.39e-08)|Epithelial(69;1.82e-07)|all cancers(49;2.04e-05)|COAD - Colon adenocarcinoma(37;0.111)	15	2442	+		all_cancers(142;2.72e-05)|all_epithelial(76;4.4e-07)|Prostate(80;0.00955)|Lung NSC(167;0.0418)|Ovarian(225;0.0443)|Colorectal(57;0.0465)|all_lung(232;0.0508)|Breast(839;0.244)	623					A2RUS4|Q68E02|Q8N1Q2	Silent	SNP	ENST00000513710.2	37	c.1869C>T	CCDS4102.1																																																																																				0.368	WDR36-008	NOVEL	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000373504.3	NM_139281		40	65	0	0	0	1	0	40	65					T	110446962	C	T	110446962	2	4	435	1	0	0	0	0	0	0	0	1	17287	726	26	3		3	WDR36	5	110446962	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	6975	110446962	70468298	2742	23667											
CAMK4	814	broad.mit.edu	37	chr5	110782460	110782460	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgcaactccagccccagatgCaccactcaaaatcggtgaga	13	6	8	14	1	1	2	1	1	0	2	3	3	2	2	4	1	4	2	4	1	3	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:110782460C>T	ENST00000282356.4	+	6	934	c.536C>T	c.(535-537)gCa>gTa	p.A179V	CAMK4_ENST00000512453.1_Missense_Mutation_p.A179V	NM_001744.4	NP_001735.1	Q16566	KCC4_HUMAN	calcium/calmodulin-dependent protein kinase IV	179	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of phospholipase C activity (GO:0007202)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|long-term memory (GO:0007616)|myeloid dendritic cell differentiation (GO:0043011)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nucleocytoplasmic transport (GO:0006913)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of osteoclast differentiation (GO:0045670)|regulation of T cell differentiation in thymus (GO:0033081)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(3)|prostate(2)|skin(1)|urinary_tract(1)	30		all_cancers(142;1.49e-05)|all_epithelial(76;1.82e-07)|Prostate(80;0.00964)|all_lung(232;0.0181)|Lung NSC(167;0.0298)|Ovarian(225;0.0446)|Colorectal(57;0.0478)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;3.79e-08)|Epithelial(69;5.29e-08)|all cancers(49;1.1e-05)|COAD - Colon adenocarcinoma(37;0.109)		GCCCCAGATGCACCACTCAAA	0.363																																						ENST00000282356.4																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(3)|prostate(2)|skin(1)|urinary_tract(1)	30						c.(535-537)gCa>gTa		calcium/calmodulin-dependent protein kinase IV							120	113	115					5																	110782460		2202	4300	6502	SO:0001583	missense	814				activation of phospholipase C activity|nerve growth factor receptor signaling pathway|synaptic transmission	cytosol|nucleoplasm	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity	g.chr5:110782460C>T	D30742	CCDS4103.1	5q22.1	2012-09-20			ENSG00000152495	ENSG00000152495	2.7.11.17		1464	protein-coding gene	gene with protein product	"brain Ca++-calmodulin-dependent protein kinase type IV", "calcium/calmodulin-dependent protein kinase type IV catalytic chain", "CAM kinase IV", "CAM kinase- GR"	114080				2536634	Standard	NM_001744		Approved	CaMK-GR	uc003kpf.3	Q16566	OTTHUMG00000128792	ENST00000282356.4:c.536C>T	5.37:g.110782460C>T	ENSP00000282356:p.Ala179Val					CAMK4_ENST00000512453.1_Missense_Mutation_p.A179V	p.A179V	NM_001744.4	NP_001735.1	Q16566	KCC4_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;3.79e-08)|Epithelial(69;5.29e-08)|all cancers(49;1.1e-05)|COAD - Colon adenocarcinoma(37;0.109)	6	934	+		all_cancers(142;1.49e-05)|all_epithelial(76;1.82e-07)|Prostate(80;0.00964)|all_lung(232;0.0181)|Lung NSC(167;0.0298)|Ovarian(225;0.0446)|Colorectal(57;0.0478)|Breast(839;0.244)	179			Protein kinase.		D3DSZ7	Missense_Mutation	SNP	ENST00000282356.4	37	c.536C>T	CCDS4103.1	.	.	.	.	.	.	.	.	.	.	C	32	5.109919	0.94292	.	.	ENSG00000152495	ENST00000512453;ENST00000282356	T;T	0.49139	0.79;0.79	5.64	5.64	0.86602	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.60856	0.2301	L	0.35854	1.095	0.80722	D	1	D	0.67145	0.996	D	0.69142	0.962	T	0.62058	-0.6934	10	0.87932	D	0	.	18.816	0.92077	0.0:1.0:0.0:0.0	.	179	Q16566	KCC4_HUMAN	V	179	ENSP00000422634:A179V;ENSP00000282356:A179V	ENSP00000282356:A179V	A	+	2	0	CAMK4	110810359	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	6.298000	0.72763	2.801000	0.96364	0.650000	0.86243	GCA		0.363	CAMK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250719.2	NM_001744		19	31	0	0	0	1	0	19	31					T	110782460	C	T	110782460	3	4	435	1	0	0	0	0	1	0	0	0	2605	710	25	3	558	3	CAMK4	5	110782460	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	335498	110782460	70132800	2743	23668											
CAMK4	814	broad.mit.edu	37	chr5	110819782	110819782	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	aagtgccagcagcagccatgGcagcatccaggagagccaca	13	3	12	13	0	0	1	0	0	0	1	1	2	1	1	4	2	6	4	4	2	1	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:110819782G>T	ENST00000282356.4	+	11	1438	c.1040G>T	c.(1039-1041)gGc>gTc	p.G347V	CAMK4_ENST00000512453.1_Missense_Mutation_p.G347V|CAMK4_ENST00000512890.1_3'UTR	NM_001744.4	NP_001735.1	Q16566	KCC4_HUMAN	calcium/calmodulin-dependent protein kinase IV	347					activation of phospholipase C activity (GO:0007202)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|long-term memory (GO:0007616)|myeloid dendritic cell differentiation (GO:0043011)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nucleocytoplasmic transport (GO:0006913)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of osteoclast differentiation (GO:0045670)|regulation of T cell differentiation in thymus (GO:0033081)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(3)|prostate(2)|skin(1)|urinary_tract(1)	30		all_cancers(142;1.49e-05)|all_epithelial(76;1.82e-07)|Prostate(80;0.00964)|all_lung(232;0.0181)|Lung NSC(167;0.0298)|Ovarian(225;0.0446)|Colorectal(57;0.0478)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;3.79e-08)|Epithelial(69;5.29e-08)|all cancers(49;1.1e-05)|COAD - Colon adenocarcinoma(37;0.109)		AGCAGCCATGGCAGCATCCAG	0.537																																						ENST00000282356.4																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(3)|prostate(2)|skin(1)|urinary_tract(1)	30						c.(1039-1041)gGc>gTc		calcium/calmodulin-dependent protein kinase IV							41	43	42					5																	110819782		2202	4300	6502	SO:0001583	missense	814				activation of phospholipase C activity|nerve growth factor receptor signaling pathway|synaptic transmission	cytosol|nucleoplasm	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity	g.chr5:110819782G>T	D30742	CCDS4103.1	5q22.1	2012-09-20			ENSG00000152495	ENSG00000152495	2.7.11.17		1464	protein-coding gene	gene with protein product	"brain Ca++-calmodulin-dependent protein kinase type IV", "calcium/calmodulin-dependent protein kinase type IV catalytic chain", "CAM kinase IV", "CAM kinase- GR"	114080				2536634	Standard	NM_001744		Approved	CaMK-GR	uc003kpf.3	Q16566	OTTHUMG00000128792	ENST00000282356.4:c.1040G>T	5.37:g.110819782G>T	ENSP00000282356:p.Gly347Val					CAMK4_ENST00000512453.1_Missense_Mutation_p.G347V|CAMK4_ENST00000512890.1_3'UTR	p.G347V	NM_001744.4	NP_001735.1	Q16566	KCC4_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;3.79e-08)|Epithelial(69;5.29e-08)|all cancers(49;1.1e-05)|COAD - Colon adenocarcinoma(37;0.109)	11	1438	+		all_cancers(142;1.49e-05)|all_epithelial(76;1.82e-07)|Prostate(80;0.00964)|all_lung(232;0.0181)|Lung NSC(167;0.0298)|Ovarian(225;0.0446)|Colorectal(57;0.0478)|Breast(839;0.244)	347					D3DSZ7	Missense_Mutation	SNP	ENST00000282356.4	37	c.1040G>T	CCDS4103.1	.	.	.	.	.	.	.	.	.	.	G	13.49	2.251895	0.39797	.	.	ENSG00000152495	ENST00000512453;ENST00000282356	T;T	0.68479	-0.33;-0.33	5.65	1.63	0.23807	Protein kinase-like domain (1);	0.712511	0.13970	N	0.350248	T	0.46367	0.1389	N	0.14661	0.345	0.21604	N	0.999625	B	0.28713	0.22	B	0.25140	0.058	T	0.22417	-1.0217	10	0.27785	T	0.31	.	11.6002	0.50997	0.0665:0.3818:0.5516:0.0	.	347	Q16566	KCC4_HUMAN	V	347	ENSP00000422634:G347V;ENSP00000282356:G347V	ENSP00000282356:G347V	G	+	2	0	CAMK4	110847681	0.931000	0.31567	0.035000	0.18076	0.959000	0.62525	1.533000	0.36040	0.272000	0.22027	0.467000	0.42956	GGC		0.537	CAMK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250719.2	NM_001744		13	22	1	0	4.3838e-07	1	4.58243e-07	13	22					T	110819782	G	T	110819782	3	4	435	1	0	0	0	0	1	0	0	0	2605	1203	42	5	1082	5	CAMK4	5	110819782	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	37322	110819782	70095478	2744	23669											
MCC	4163	broad.mit.edu	37	chr5	112384868	112384868	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tccttctgctcctccacctcGgacttcaggtgctcaatgtg	5	13	8	15	1	3	0	2	0	1	0	7	1	6	1	4	2	2	2	4	2	1	2	rs577022580		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:112384868G>A	ENST00000302475.4	-	14	2570	c.2007C>T	c.(2005-2007)tcC>tcT	p.S669S	MCC_ENST00000514701.3_5'UTR|MCC_ENST00000515367.2_Silent_p.S606S|MCC_ENST00000408903.3_Silent_p.S859S	NM_002387.2	NP_002378	P23508	CRCM_HUMAN	mutated in colorectal cancers	669					negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of epithelial cell proliferation (GO:0050680)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			endometrium(4)|kidney(3)|large_intestine(15)|liver(2)|lung(8)|ovary(2)|pancreas(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42		all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198)		OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766)		CCTCCACCTCGGACTTCAGGT	0.617													G|||	1	0.000199681	8e-04	0	5008	,	,		21345	0		0	False		,,,				2504	0					ENST00000302475.4																			0				endometrium(4)|kidney(3)|large_intestine(15)|liver(2)|lung(8)|ovary(2)|pancreas(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						c.(2005-2007)tcC>tcT		mutated in colorectal cancers							84	68	73					5																	112384868		2202	4300	6502	SO:0001819	synonymous_variant	4163				negative regulation of canonical Wnt receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|Wnt receptor signaling pathway	cytoplasm|nucleus|plasma membrane	protein binding|receptor activity	g.chr5:112384868G>A		CCDS4111.1, CCDS43351.1	5q21-q22	2013-01-10			ENSG00000171444	ENSG00000171444		"EF-hand domain containing"	6935	protein-coding gene	gene with protein product		159350				1848370	Standard	NM_002387		Approved		uc003kql.4	P23508	OTTHUMG00000128804	ENST00000302475.4:c.2007C>T	5.37:g.112384868G>A						MCC_ENST00000514701.3_5'UTR|MCC_ENST00000515367.2_Silent_p.S606S|MCC_ENST00000408903.3_Silent_p.S859S	p.S669S	NM_002387.2	NP_002378.1	P23508	CRCM_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766)	14	2570	-		all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198)	669					D3DT05|Q6ZR04	Silent	SNP	ENST00000302475.4	37	c.2007C>T	CCDS4111.1																																																																																				0.617	MCC-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000250736.3	NM_001085377		23	31	0	0	0	1	0	23	31					A	112384868	G	A	112384868	2	1	435	1	0	0	0	0	0	0	0	1	9373	1103	39	2		2	MCC	5	112384868	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	1565086	112384868	68530392	2745	23670											
TSSK1B	83942	broad.mit.edu	37	chr5	112769553	112769553	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atttgcattgctgtcccctcGggttttgtctcaggctgtgc	3	16	11	11	1	1	0	1	0	1	0	4	0	2	0	2	2	3	4	2	2	0	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:112769553G>A	ENST00000390666.3	-	1	1175	c.984C>T	c.(982-984)ccC>ccT	p.P328P	CTD-2201G3.1_ENST00000416046.2_RNA|CTD-2201G3.1_ENST00000510381.2_RNA|MCC_ENST00000408903.3_Intron|CTD-2201G3.1_ENST00000383058.4_RNA	NM_032028.3	NP_114417.1	Q9BXA7	TSSK1_HUMAN	testis-specific serine kinase 1B	328					multicellular organismal development (GO:0007275)|protein phosphorylation (GO:0006468)|spermatid development (GO:0007286)	cytoplasmic vesicle (GO:0031410)|motile cilium (GO:0031514)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			large_intestine(8)|ovary(2)|skin(2)|stomach(1)	13		all_cancers(142;0.0138)|all_epithelial(76;0.000445)|Colorectal(10;0.00814)|Prostate(80;0.0115)|Ovarian(225;0.156)		Epithelial(69;4.15e-08)|OV - Ovarian serous cystadenocarcinoma(64;4.49e-08)|all cancers(49;3.2e-06)|COAD - Colon adenocarcinoma(37;0.0371)|Colorectal(14;0.0449)		CTGTCCCCTCGGGTTTTGTCT	0.612																																						ENST00000390666.3																			0				large_intestine(8)|ovary(2)|skin(2)|stomach(1)	13						c.(982-984)ccC>ccT		testis-specific serine kinase 1B							45	51	49					5																	112769553		2000	4175	6175	SO:0001819	synonymous_variant	83942				cell differentiation|multicellular organismal development|spermatogenesis		ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr5:112769553G>A	AF348076	CCDS4112.1	5q22.2	2008-10-23	2007-01-30	2007-01-30	ENSG00000212122	ENSG00000212122			14968	protein-coding gene	gene with protein product		610709	"serine/threonine kinase 22D (spermiogenesis associated)", "testis-specific serine kinase 1"	STK22D, TSSK1		15044604	Standard	NM_032028		Approved	SPOGA4, FKSG81	uc003kqm.2	Q9BXA7	OTTHUMG00000128835	ENST00000390666.3:c.984C>T	5.37:g.112769553G>A						CTD-2201G3.1_ENST00000416046.2_RNA|MCC_ENST00000408903.3_Intron|CTD-2201G3.1_ENST00000383058.4_RNA	p.P328P	NM_032028.3	NP_114417.1	Q9BXA7	TSSK1_HUMAN		Epithelial(69;4.15e-08)|OV - Ovarian serous cystadenocarcinoma(64;4.49e-08)|all cancers(49;3.2e-06)|COAD - Colon adenocarcinoma(37;0.0371)|Colorectal(14;0.0449)	1	1175	-		all_cancers(142;0.0138)|all_epithelial(76;0.000445)|Colorectal(10;0.00814)|Prostate(80;0.0115)|Ovarian(225;0.156)	328					B2R8D9	Silent	SNP	ENST00000390666.3	37	c.984C>T	CCDS4112.1																																																																																				0.612	TSSK1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250774.2	NM_032028		8	18	0	0	0	1	0	8	18					A	112769553	G	A	112769553	2	1	435	1	0	0	0	0	0	0	0	1	16665	1103	39	2		2	TSSK1B	5	112769553	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	384685	112769553	68145707	2746	23671											
TSSK1B	83942	broad.mit.edu	37	chr5	112770389	112770389	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gaatttctccaagaagtctgCgggggccttcttgcggtcga	7	11	13	10	3	3	1	0	0	3	1	5	3	3	1	2	3	2	0	2	3	3	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:112770389C>T	ENST00000390666.3	-	1	339	c.148G>A	c.(148-150)Gca>Aca	p.A50T	CTD-2201G3.1_ENST00000416046.2_RNA|CTD-2201G3.1_ENST00000510381.2_RNA|MCC_ENST00000408903.3_Intron|CTD-2201G3.1_ENST00000383058.4_RNA	NM_032028.3	NP_114417.1	Q9BXA7	TSSK1_HUMAN	testis-specific serine kinase 1B	50	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		A -> T. {ECO:0000269|PubMed:17344846}.		multicellular organismal development (GO:0007275)|protein phosphorylation (GO:0006468)|spermatid development (GO:0007286)	cytoplasmic vesicle (GO:0031410)|motile cilium (GO:0031514)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)	p.A50T(1)		large_intestine(8)|ovary(2)|skin(2)|stomach(1)	13		all_cancers(142;0.0138)|all_epithelial(76;0.000445)|Colorectal(10;0.00814)|Prostate(80;0.0115)|Ovarian(225;0.156)		Epithelial(69;4.15e-08)|OV - Ovarian serous cystadenocarcinoma(64;4.49e-08)|all cancers(49;3.2e-06)|COAD - Colon adenocarcinoma(37;0.0371)|Colorectal(14;0.0449)		AAGAAGTCTGCGGGGGCCTTC	0.463																																						ENST00000390666.3																			1	Substitution - Missense(1)	p.A50T(1)	endometrium(1)	large_intestine(8)|ovary(2)|skin(2)|stomach(1)	13						c.(148-150)Gca>Aca		testis-specific serine kinase 1B							49	55	53					5																	112770389		2151	4272	6423	SO:0001583	missense	83942				cell differentiation|multicellular organismal development|spermatogenesis		ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr5:112770389C>T	AF348076	CCDS4112.1	5q22.2	2008-10-23	2007-01-30	2007-01-30	ENSG00000212122	ENSG00000212122			14968	protein-coding gene	gene with protein product		610709	"serine/threonine kinase 22D (spermiogenesis associated)", "testis-specific serine kinase 1"	STK22D, TSSK1		15044604	Standard	NM_032028		Approved	SPOGA4, FKSG81	uc003kqm.2	Q9BXA7	OTTHUMG00000128835	ENST00000390666.3:c.148G>A	5.37:g.112770389C>T	ENSP00000375081:p.Ala50Thr					CTD-2201G3.1_ENST00000416046.2_RNA|MCC_ENST00000408903.3_Intron|CTD-2201G3.1_ENST00000383058.4_RNA	p.A50T	NM_032028.3	NP_114417.1	Q9BXA7	TSSK1_HUMAN		Epithelial(69;4.15e-08)|OV - Ovarian serous cystadenocarcinoma(64;4.49e-08)|all cancers(49;3.2e-06)|COAD - Colon adenocarcinoma(37;0.0371)|Colorectal(14;0.0449)	1	339	-		all_cancers(142;0.0138)|all_epithelial(76;0.000445)|Colorectal(10;0.00814)|Prostate(80;0.0115)|Ovarian(225;0.156)	50		A -> T.	Protein kinase.		B2R8D9	Missense_Mutation	SNP	ENST00000390666.3	37	c.148G>A	CCDS4112.1	.	.	.	.	.	.	.	.	.	.	C	6.161	0.397878	0.11696	.	.	ENSG00000212122	ENST00000390666	T	0.65364	-0.15	2.67	-1.41	0.08941	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.978474	0.08254	N	0.974220	T	0.35248	0.0925	N	0.12831	0.26	0.09310	N	1	B	0.09022	0.002	B	0.09377	0.004	T	0.21177	-1.0253	10	0.07813	T	0.8	.	5.9869	0.19440	0.0:0.5059:0.0:0.4941	.	50	Q9BXA7	TSSK1_HUMAN	T	50	ENSP00000375081:A50T	ENSP00000375081:A50T	A	-	1	0	TSSK1B	112798288	0.000000	0.05858	0.866000	0.34008	0.696000	0.40369	-0.262000	0.08682	-0.418000	0.07450	-0.471000	0.05019	GCA		0.463	TSSK1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250774.2	NM_032028		10	25	0	0	0	1	0	10	25					T	112770389	C	T	112770389	3	4	435	1	0	0	0	0	1	0	0	0	16665	768	27	1	959	1	TSSK1B	5	112770389	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	836	112770389	68144871	2747	23672											
YTHDC2	64848	broad.mit.edu	37	chr5	112915367	112915367	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agccttgaaacttgatgagtGgctccatttcacactggagc	10	11	10	10	0	1	3	1	3	0	0	2	4	2	4	2	2	3	1	2	2	1	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:112915367G>T	ENST00000161863.4	+	24	3542	c.3329G>T	c.(3328-3330)tGg>tTg	p.W1110L		NM_022828.3	NP_073739.3	Q9H6S0	YTDC2_HUMAN	YTH domain containing 2	1110					ATP catabolic process (GO:0006200)|positive regulation by host of viral genome replication (GO:0044829)|response to interleukin-1 (GO:0070555)|response to tumor necrosis factor (GO:0034612)	endoplasmic reticulum (GO:0005783)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|RNA polymerase binding (GO:0070063)|RNA-dependent ATPase activity (GO:0008186)			NS(2)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(13)|lung(10)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43		all_cancers(142;7.69e-05)|all_epithelial(76;6.42e-07)|Colorectal(10;0.00278)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Lung NSC(810;0.143)|all_lung(232;0.163)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;7.2e-08)|Epithelial(69;8.83e-08)|all cancers(49;6.9e-06)|COAD - Colon adenocarcinoma(37;0.0458)|Colorectal(14;0.0594)		CTTGATGAGTGGCTCCATTTC	0.363																																						ENST00000161863.4																			0				NS(2)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(13)|lung(10)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43						c.(3328-3330)tGg>tTg		YTH domain containing 2							141	141	141					5																	112915367		2202	4300	6502	SO:0001583	missense	64848						ATP binding|ATP-dependent helicase activity|nucleic acid binding	g.chr5:112915367G>T	AK000915	CCDS4113.1	5q22.3	2008-02-05			ENSG00000047188	ENSG00000047188			24721	protein-coding gene	gene with protein product						12477932	Standard	NM_022828		Approved	FLJ2194, FLJ10053, DKFZp564A186	uc003kqn.3	Q9H6S0	OTTHUMG00000128837	ENST00000161863.4:c.3329G>T	5.37:g.112915367G>T	ENSP00000161863:p.Trp1110Leu						p.W1110L	NM_022828.3	NP_073739.3	Q9H6S0	YTDC2_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;7.2e-08)|Epithelial(69;8.83e-08)|all cancers(49;6.9e-06)|COAD - Colon adenocarcinoma(37;0.0458)|Colorectal(14;0.0594)	24	3542	+		all_cancers(142;7.69e-05)|all_epithelial(76;6.42e-07)|Colorectal(10;0.00278)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Lung NSC(810;0.143)|all_lung(232;0.163)|Breast(839;0.244)	1110					B2RP66	Missense_Mutation	SNP	ENST00000161863.4	37	c.3329G>T	CCDS4113.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.990533	0.74589	.	.	ENSG00000047188	ENST00000161863;ENST00000511372	T	0.02737	4.18	5.82	5.82	0.92795	.	0.066763	0.64402	D	0.000004	T	0.06508	0.0167	L	0.59436	1.845	0.80722	D	1	B	0.22683	0.073	B	0.23852	0.049	T	0.19647	-1.0299	10	0.87932	D	0	.	20.0789	0.97764	0.0:0.0:1.0:0.0	.	1110	Q9H6S0	YTDC2_HUMAN	L	1110;1020	ENSP00000161863:W1110L	ENSP00000161863:W1110L	W	+	2	0	YTHDC2	112943266	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.126000	0.77201	2.750000	0.94351	0.655000	0.94253	TGG		0.363	YTHDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250776.2	NM_022828		22	45	1	0	8.04996e-18	1	8.87193e-18	22	45					T	112915367	G	T	112915367	3	4	435	1	0	0	0	0	1	0	0	0	17494	1357	47	5	3423	5	YTHDC2	5	112915367	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	144978	112915367	67999893	2748	23673											
KCNN2	3781	broad.mit.edu	37	chr5	113740489	113740489	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgactatatgcccaggaactGtactcttggtttttagtatc	9	16	8	8	0	1	1	0	1	1	0	2	2	1	2	1	2	3	3	1	2	6	8			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:113740489G>A	ENST00000512097.3	+	4	1955	c.937G>A	c.(937-939)Gta>Ata	p.V313I	KCNN2_ENST00000264773.3_Missense_Mutation_p.V313I|KCNN2_ENST00000507750.1_Intron			Q9H2S1	KCNN2_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 2	313					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of potassium ion transmembrane transport (GO:1901379)|synaptic transmission (GO:0007268)	dendritic spine (GO:0043197)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|calcium-activated potassium channel activity (GO:0015269)|calmodulin binding (GO:0005516)|protein homodimerization activity (GO:0042803)|small conductance calcium-activated potassium channel activity (GO:0016286)			breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(142;2.86e-05)|all_epithelial(76;9.33e-06)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Breast(839;0.159)|Lung NSC(810;0.174)|all_lung(232;0.206)		OV - Ovarian serous cystadenocarcinoma(64;1.89e-08)|Epithelial(69;2.04e-08)|all cancers(49;3.74e-06)|COAD - Colon adenocarcinoma(37;0.142)|Colorectal(14;0.195)	Miconazole(DB01110)|Procaine(DB00721)	CCCAGGAACTGTACTCTTGGT	0.368																																						ENST00000512097.3																			0				breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						c.(937-939)Gta>Ata		potassium intermediate/small conductance calcium-activated channel, subfamily N, member 2							144	143	143					5																	113740489		2202	4300	6502	SO:0001583	missense	3781					integral to membrane	calmodulin binding|small conductance calcium-activated potassium channel activity	g.chr5:113740489G>A	AF239613	CCDS4114.1, CCDS43352.1	5q22.3	2012-07-05			ENSG00000080709	ENSG00000080709		"Potassium channels", "Voltage-gated ion channels / Potassium channels, calcium-activated"	6291	protein-coding gene	gene with protein product		605879				16382103	Standard	NM_001278204		Approved	KCa2.2, hSK2	uc003kqo.3	Q9H2S1	OTTHUMG00000128836	ENST00000512097.3:c.937G>A	5.37:g.113740489G>A	ENSP00000427120:p.Val313Ile					KCNN2_ENST00000264773.3_Missense_Mutation_p.V313I|KCNN2_ENST00000507750.1_Intron	p.V313I			Q9H2S1	KCNN2_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;1.89e-08)|Epithelial(69;2.04e-08)|all cancers(49;3.74e-06)|COAD - Colon adenocarcinoma(37;0.142)|Colorectal(14;0.195)	4	1955	+		all_cancers(142;2.86e-05)|all_epithelial(76;9.33e-06)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Breast(839;0.159)|Lung NSC(810;0.174)|all_lung(232;0.206)	313					A6NF94|Q0VFZ4|Q6PJI0|Q6X2Y2	Missense_Mutation	SNP	ENST00000512097.3	37	c.937G>A	CCDS4114.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.027645	0.75390	.	.	ENSG00000080709	ENST00000512097;ENST00000264773	T;T	0.22945	1.93;1.93	5.42	5.42	0.78866	.	0.056409	0.64402	D	0.000001	T	0.44973	0.1319	L	0.56124	1.755	0.80722	D	1	P	0.45240	0.854	P	0.56648	0.803	T	0.32719	-0.9896	10	0.87932	D	0	-4.695	18.8255	0.92117	0.0:0.0:1.0:0.0	.	313	Q9H2S1	KCNN2_HUMAN	I	313	ENSP00000427120:V313I;ENSP00000264773:V313I	ENSP00000264773:V313I	V	+	1	0	KCNN2	113768388	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.751000	0.98889	2.545000	0.85829	0.491000	0.48974	GTA		0.368	KCNN2-001	KNOWN	not_organism_supported|upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250775.2	NM_021614		48	62	0	0	0	1	0	48	62					A	113740489	G	A	113740489	3	1	435	1	0	0	0	0	1	0	0	0	8079	1377	48	3	947	3	KCNN2	5	113740489	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	825122	113740489	67174771	2749	23674											
FEM1C	56929	broad.mit.edu	37	chr5	114861010	114861010	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgtggcactggtttactaatAatattagtcctatcactgta	11	16	7	7	0	1	0	1	0	0	0	2	0	2	0	1	2	1	3	1	2	7	8			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:114861010A>G	ENST00000274457.3	-	3	1410	c.849T>C	c.(847-849)atT>atC	p.I283I		NM_020177.2	NP_064562.1	Q96JP0	FEM1C_HUMAN	fem-1 homolog c (C. elegans)	283					protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)				breast(5)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|liver(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	18		all_cancers(142;0.000575)|all_epithelial(76;9.98e-06)|Prostate(80;0.00955)|Ovarian(225;0.0443)|all_lung(232;0.132)|Breast(839;0.195)		OV - Ovarian serous cystadenocarcinoma(64;2.5e-07)|Epithelial(69;2.66e-07)|all cancers(49;1.39e-05)		GTTTACTAATAATATTAGTCC	0.393																																						ENST00000274457.3																			0				breast(5)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|liver(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	18						c.(847-849)atT>atC		fem-1 homolog c (C. elegans)							157	157	157					5																	114861010		2202	4300	6502	SO:0001819	synonymous_variant	56929					cytoplasm		g.chr5:114861010A>G		CCDS4118.1	5q22	2013-01-10	2006-11-08		ENSG00000145780	ENSG00000145780		"Ankyrin repeat domain containing"	16933	protein-coding gene	gene with protein product		608767				14527725, 11733146	Standard	NM_020177		Approved	KIAA1785, EUROIMAGE686608, EUROIMAGE783647, FEM1A	uc003krb.1	Q96JP0	OTTHUMG00000128895	ENST00000274457.3:c.849T>C	5.37:g.114861010A>G							p.I283I	NM_020177.2	NP_064562.1	Q96JP0	FEM1C_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;2.5e-07)|Epithelial(69;2.66e-07)|all cancers(49;1.39e-05)	3	1410	-		all_cancers(142;0.000575)|all_epithelial(76;9.98e-06)|Prostate(80;0.00955)|Ovarian(225;0.0443)|all_lung(232;0.132)|Breast(839;0.195)	283					B2RE47|Q8N3V8|Q9H704|Q9NPL6|Q9NPL9	Silent	SNP	ENST00000274457.3	37	c.849T>C	CCDS4118.1																																																																																				0.393	FEM1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250857.3	NM_020177		41	48	0	0	0	1	0	41	48					G	114861010	A	G	114861010	2	3	435	1	0	0	0	0	0	0	0	1	5811	358	13	4		4	FEM1C	5	114861010	Silent	SNP	A	TCGA-XK-AAIW-01A-11D-A41K-08	1120521	114861010	66054250	2750	23675											
FEM1C	56929	broad.mit.edu	37	chr5	114879005	114879005	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tctatggaggcactgcattgCtctaggaggaattccaccat	10	11	10	10	0	2	0	0	0	2	0	3	3	3	3	2	4	2	3	2	4	3	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:114879005C>T	ENST00000274457.3	-	2	747	c.186G>A	c.(184-186)gaG>gaA	p.E62E		NM_020177.2	NP_064562.1	Q96JP0	FEM1C_HUMAN	fem-1 homolog c (C. elegans)	62					protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)				breast(5)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|liver(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	18		all_cancers(142;0.000575)|all_epithelial(76;9.98e-06)|Prostate(80;0.00955)|Ovarian(225;0.0443)|all_lung(232;0.132)|Breast(839;0.195)		OV - Ovarian serous cystadenocarcinoma(64;2.5e-07)|Epithelial(69;2.66e-07)|all cancers(49;1.39e-05)		CACTGCATTGCTCTAGGAGGA	0.542																																						ENST00000274457.3																			0				breast(5)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|liver(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	18						c.(184-186)gaG>gaA		fem-1 homolog c (C. elegans)							48	49	49					5																	114879005		2202	4300	6502	SO:0001819	synonymous_variant	56929					cytoplasm		g.chr5:114879005C>T		CCDS4118.1	5q22	2013-01-10	2006-11-08		ENSG00000145780	ENSG00000145780		"Ankyrin repeat domain containing"	16933	protein-coding gene	gene with protein product		608767				14527725, 11733146	Standard	NM_020177		Approved	KIAA1785, EUROIMAGE686608, EUROIMAGE783647, FEM1A	uc003krb.1	Q96JP0	OTTHUMG00000128895	ENST00000274457.3:c.186G>A	5.37:g.114879005C>T							p.E62E	NM_020177.2	NP_064562.1	Q96JP0	FEM1C_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;2.5e-07)|Epithelial(69;2.66e-07)|all cancers(49;1.39e-05)	2	747	-		all_cancers(142;0.000575)|all_epithelial(76;9.98e-06)|Prostate(80;0.00955)|Ovarian(225;0.0443)|all_lung(232;0.132)|Breast(839;0.195)	62					B2RE47|Q8N3V8|Q9H704|Q9NPL6|Q9NPL9	Silent	SNP	ENST00000274457.3	37	c.186G>A	CCDS4118.1																																																																																				0.542	FEM1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250857.3	NM_020177		4	18	0	0	0	1	0	4	18					T	114879005	C	T	114879005	2	4	435	1	0	0	0	0	0	0	0	1	5811	796	28	3		3	FEM1C	5	114879005	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	17995	114879005	66036255	2751	23676											
AQPEP	206338	broad.mit.edu	37	chr5	115327976	115327976	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccacgagattggacaccaggCatgtggtaaaatgttctttt	11	12	10	8	1	1	1	0	0	1	1	1	3	1	2	2	3	0	3	2	3	2	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:115327976C>T	ENST00000357872.4	+	5	1384		c.e5+2		AQPEP_ENST00000395528.2_Splice_Site	NM_173800.4	NP_776161.3	Q6Q4G3	AMPQ_HUMAN								integral component of membrane (GO:0016021)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)										GGACACCAGGCATGTGGTAAA	0.383																																						ENST00000357872.4																			0											c.e5+2									113	118	116					5																	115327976		2201	4299	6500	SO:0001630	splice_region_variant	0				proteolysis	integral to membrane	metallopeptidase activity|zinc ion binding	g.chr5:115327976C>T																												ENST00000357872.4:c.1260+2C>T	5.37:g.115327976C>T						AQPEP_ENST00000395528.2_Splice_Site		NM_173800.4	NP_776161.3	Q6Q4G3	AMPQ_HUMAN			5	1384	+								A8K6J0|C9JGD2|Q32MR1|Q4G0I9|Q4G0V2|Q86XA3|Q8NBZ2	Splice_Site	SNP	ENST00000357872.4	37		CCDS4124.1	.	.	.	.	.	.	.	.	.	.	C	17.09	3.300536	0.60195	.	.	ENSG00000172901	ENST00000357872;ENST00000379578	.	.	.	5.81	3.69	0.42338	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.9549	0.52976	0.0:0.8264:0.0:0.1736	.	.	.	.	.	-1	.	.	.	+	.	.	AC010282.1	115355875	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.760000	0.38430	1.423000	0.47198	0.655000	0.94253	.		0.383	AQPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250852.1		Intron	42	66	0	0	0	1	0	42	66					T	115327976	C	T	115327976	5	4	435	1	0	0	0	0	0	0	1	0	834	724	25	3	1280	3	AQPEP	5	115327976	Splice_Site	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	448971	115327976	65587284	2752	23677											
SEMA6A	57556	broad.mit.edu	37	chr5	115815886	115815886	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcctcatccatgagcgggtgCgtcttgatgaagttcagggt	7	11	14	9	2	3	3	2	3	1	0	4	3	4	3	2	2	2	1	2	2	1	2	rs369918649		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:115815886C>T	ENST00000343348.6	-	12	1969	c.1182G>A	c.(1180-1182)acG>acA	p.T394T	CTB-118N6.3_ENST00000508640.1_RNA|SEMA6A_ENST00000510263.1_Silent_p.T394T|CTB-118N6.3_ENST00000510682.1_RNA|SEMA6A_ENST00000282394.6_5'Flank|CTB-118N6.3_ENST00000514214.1_RNA|SEMA6A_ENST00000257414.8_Silent_p.T394T	NM_020796.3	NP_065847	Q9H2E6	SEM6A_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6A	394	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				apoptotic process (GO:0006915)|axon guidance (GO:0007411)|cell surface receptor signaling pathway (GO:0007166)|centrosome localization (GO:0051642)|cytoskeleton organization (GO:0007010)|nervous system development (GO:0007399)|neuron migration (GO:0001764)|organ morphogenesis (GO:0009887)|positive regulation of neuron migration (GO:2001224)|semaphorin-plexin signaling pathway (GO:0071526)	axon (GO:0030424)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	transmembrane signaling receptor activity (GO:0004888)	p.T394T(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31		all_cancers(142;0.00316)|all_epithelial(76;5.71e-05)|Prostate(80;0.00845)|Ovarian(225;0.0796)|Lung NSC(810;0.171)|all_lung(232;0.203)		OV - Ovarian serous cystadenocarcinoma(64;1.59e-08)|Epithelial(69;2e-08)|all cancers(49;5.7e-08)|COAD - Colon adenocarcinoma(49;0.151)		TGAGCGGGTGCGTCTTGATGA	0.498																																						ENST00000343348.6																			1	Substitution - coding silent(1)	p.T394T(1)	large_intestine(1)	central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31						c.(1180-1182)acG>acA		sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6A		C		0,3958		0,0,1979	135	132	133		1182	-4.6	1	5		133	1,8347		0,1,4173	no	coding-synonymous	SEMA6A	NM_020796.3		0,1,6152	TT,TC,CC		0.012,0.0,0.0081		394/1031	115815886	1,12305	1979	4174	6153	SO:0001819	synonymous_variant	57556				apoptosis|axon guidance|cell surface receptor linked signaling pathway|cytoskeleton organization|organ morphogenesis	axon|integral to membrane|plasma membrane	receptor activity	g.chr5:115815886C>T	AB037789	CCDS47256.1, CCDS75288.1	5q23.1	2014-07-29			ENSG00000092421			"Semaphorins"	10738	protein-coding gene	gene with protein product	"sema VIa"	605885		SEMAQ		9204478, 10993894	Standard	XM_006714663		Approved	KIAA1368, SEMA6A1, SEMA, HT018	uc010jck.3	Q9H2E6	OTTHUMG00000162987	ENST00000343348.6:c.1182G>A	5.37:g.115815886C>T						CTB-118N6.3_ENST00000514214.1_RNA|SEMA6A_ENST00000257414.8_Silent_p.T394T|CTB-118N6.3_ENST00000508640.1_RNA|CTB-118N6.3_ENST00000510682.1_RNA|SEMA6A_ENST00000510263.1_Silent_p.T394T	p.T394T	NM_020796.3	NP_065847.1	Q9H2E6	SEM6A_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;1.59e-08)|Epithelial(69;2e-08)|all cancers(49;5.7e-08)|COAD - Colon adenocarcinoma(49;0.151)	12	1969	-		all_cancers(142;0.00316)|all_epithelial(76;5.71e-05)|Prostate(80;0.00845)|Ovarian(225;0.0796)|Lung NSC(810;0.171)|all_lung(232;0.203)	394			Sema.		Q9P2H9	Silent	SNP	ENST00000343348.6	37	c.1182G>A	CCDS47256.1																																																																																				0.498	SEMA6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371270.1	NM_020796		27	38	0	0	0	1	0	27	38					T	115815886	C	T	115815886	2	4	435	1	0	0	0	0	0	0	0	1	14039	755	27	1		1	SEMA6A	5	115815886	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	487910	115815886	65099374	2753	23678											
SEMA6A	57556	broad.mit.edu	37	chr5	115822496	115822496	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caacatcacgcccgttgataCgaatcacatctgtaactgcc	12	9	6	14	3	3	1	2	1	1	0	3	2	3	1	2	0	4	2	2	0	4	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:115822496C>T	ENST00000343348.6	-	10	1698	c.911G>A	c.(910-912)cGt>cAt	p.R304H	CTB-118N6.3_ENST00000508640.1_RNA|SEMA6A_ENST00000510263.1_Missense_Mutation_p.R304H|CTB-118N6.3_ENST00000510682.1_RNA|SEMA6A_ENST00000503962.1_5'Flank|CTB-118N6.3_ENST00000514214.1_RNA|SEMA6A_ENST00000257414.8_Missense_Mutation_p.R304H	NM_020796.3	NP_065847	Q9H2E6	SEM6A_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6A	304	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				apoptotic process (GO:0006915)|axon guidance (GO:0007411)|cell surface receptor signaling pathway (GO:0007166)|centrosome localization (GO:0051642)|cytoskeleton organization (GO:0007010)|nervous system development (GO:0007399)|neuron migration (GO:0001764)|organ morphogenesis (GO:0009887)|positive regulation of neuron migration (GO:2001224)|semaphorin-plexin signaling pathway (GO:0071526)	axon (GO:0030424)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	transmembrane signaling receptor activity (GO:0004888)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31		all_cancers(142;0.00316)|all_epithelial(76;5.71e-05)|Prostate(80;0.00845)|Ovarian(225;0.0796)|Lung NSC(810;0.171)|all_lung(232;0.203)		OV - Ovarian serous cystadenocarcinoma(64;1.59e-08)|Epithelial(69;2e-08)|all cancers(49;5.7e-08)|COAD - Colon adenocarcinoma(49;0.151)		CCCGTTGATACGAATCACATC	0.463																																						ENST00000343348.6																			0				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31						c.(910-912)cGt>cAt		sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6A							142	137	139					5																	115822496		1995	4196	6191	SO:0001583	missense	57556				apoptosis|axon guidance|cell surface receptor linked signaling pathway|cytoskeleton organization|organ morphogenesis	axon|integral to membrane|plasma membrane	receptor activity	g.chr5:115822496C>T	AB037789	CCDS47256.1, CCDS75288.1	5q23.1	2014-07-29			ENSG00000092421			"Semaphorins"	10738	protein-coding gene	gene with protein product	"sema VIa"	605885		SEMAQ		9204478, 10993894	Standard	XM_006714663		Approved	KIAA1368, SEMA6A1, SEMA, HT018	uc010jck.3	Q9H2E6	OTTHUMG00000162987	ENST00000343348.6:c.911G>A	5.37:g.115822496C>T	ENSP00000345512:p.Arg304His					CTB-118N6.3_ENST00000514214.1_RNA|SEMA6A_ENST00000257414.8_Missense_Mutation_p.R304H|CTB-118N6.3_ENST00000508640.1_RNA|CTB-118N6.3_ENST00000510682.1_RNA|SEMA6A_ENST00000510263.1_Missense_Mutation_p.R304H	p.R304H	NM_020796.3	NP_065847.1	Q9H2E6	SEM6A_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;1.59e-08)|Epithelial(69;2e-08)|all cancers(49;5.7e-08)|COAD - Colon adenocarcinoma(49;0.151)	10	1698	-		all_cancers(142;0.00316)|all_epithelial(76;5.71e-05)|Prostate(80;0.00845)|Ovarian(225;0.0796)|Lung NSC(810;0.171)|all_lung(232;0.203)	304			Sema.		Q9P2H9	Missense_Mutation	SNP	ENST00000343348.6	37	c.911G>A	CCDS47256.1	.	.	.	.	.	.	.	.	.	.	C	9.693	1.152368	0.21371	.	.	ENSG00000092421	ENST00000343348;ENST00000257414;ENST00000510263	T;T;T	0.22336	1.96;1.96;1.96	6.07	-0.515	0.11954	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.173838	0.64402	N	0.000007	T	0.07999	0.0200	N	0.04355	-0.22	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.29181	-1.0020	10	0.21540	T	0.41	.	9.734	0.40377	0.0:0.315:0.0:0.685	.	304;304	Q9H2E6;Q9H2E6-2	SEM6A_HUMAN;.	H	304	ENSP00000345512:R304H;ENSP00000257414:R304H;ENSP00000424388:R304H	ENSP00000257414:R304H	R	-	2	0	SEMA6A	115850395	0.938000	0.31826	0.080000	0.20451	0.949000	0.60115	1.421000	0.34815	-0.026000	0.13895	-0.224000	0.12420	CGT		0.463	SEMA6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371270.1	NM_020796		41	53	0	0	0	1	0	41	53					T	115822496	C	T	115822496	3	4	435	1	0	0	0	0	1	0	0	0	14039	536	19	1	2221	1	SEMA6A	5	115822496	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	6610	115822496	65092764	2754	23679											
SEMA6A	57556	broad.mit.edu	37	chr5	115827438	115827438	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agaaatcaggtcgcttacctGcaaacagtgcaacgttggca	13	8	10	10	2	1	1	1	0	0	1	2	1	1	1	1	2	5	5	1	2	4	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:115827438G>A	ENST00000343348.6	-	7	1320	c.533C>T	c.(532-534)gCa>gTa	p.A178V	CTB-118N6.3_ENST00000508640.1_RNA|SEMA6A_ENST00000510263.1_Missense_Mutation_p.A178V|CTB-118N6.3_ENST00000510682.1_RNA|SEMA6A_ENST00000503962.1_5'UTR|CTB-118N6.3_ENST00000514214.1_RNA|SEMA6A_ENST00000257414.8_Missense_Mutation_p.A178V	NM_020796.3	NP_065847	Q9H2E6	SEM6A_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6A	178	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				apoptotic process (GO:0006915)|axon guidance (GO:0007411)|cell surface receptor signaling pathway (GO:0007166)|centrosome localization (GO:0051642)|cytoskeleton organization (GO:0007010)|nervous system development (GO:0007399)|neuron migration (GO:0001764)|organ morphogenesis (GO:0009887)|positive regulation of neuron migration (GO:2001224)|semaphorin-plexin signaling pathway (GO:0071526)	axon (GO:0030424)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	transmembrane signaling receptor activity (GO:0004888)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31		all_cancers(142;0.00316)|all_epithelial(76;5.71e-05)|Prostate(80;0.00845)|Ovarian(225;0.0796)|Lung NSC(810;0.171)|all_lung(232;0.203)		OV - Ovarian serous cystadenocarcinoma(64;1.59e-08)|Epithelial(69;2e-08)|all cancers(49;5.7e-08)|COAD - Colon adenocarcinoma(49;0.151)		TCGCTTACCTGCAAACAGTGC	0.458																																						ENST00000343348.6																			0				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31						c.(532-534)gCa>gTa		sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6A							120	123	122					5																	115827438		2003	4172	6175	SO:0001583	missense	57556				apoptosis|axon guidance|cell surface receptor linked signaling pathway|cytoskeleton organization|organ morphogenesis	axon|integral to membrane|plasma membrane	receptor activity	g.chr5:115827438G>A	AB037789	CCDS47256.1, CCDS75288.1	5q23.1	2014-07-29			ENSG00000092421			"Semaphorins"	10738	protein-coding gene	gene with protein product	"sema VIa"	605885		SEMAQ		9204478, 10993894	Standard	XM_006714663		Approved	KIAA1368, SEMA6A1, SEMA, HT018	uc010jck.3	Q9H2E6	OTTHUMG00000162987	ENST00000343348.6:c.533C>T	5.37:g.115827438G>A	ENSP00000345512:p.Ala178Val					CTB-118N6.3_ENST00000514214.1_RNA|SEMA6A_ENST00000257414.8_Missense_Mutation_p.A178V|CTB-118N6.3_ENST00000508640.1_RNA|CTB-118N6.3_ENST00000510682.1_RNA|SEMA6A_ENST00000510263.1_Missense_Mutation_p.A178V|SEMA6A_ENST00000503962.1_5'UTR	p.A178V	NM_020796.3	NP_065847.1	Q9H2E6	SEM6A_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;1.59e-08)|Epithelial(69;2e-08)|all cancers(49;5.7e-08)|COAD - Colon adenocarcinoma(49;0.151)	7	1320	-		all_cancers(142;0.00316)|all_epithelial(76;5.71e-05)|Prostate(80;0.00845)|Ovarian(225;0.0796)|Lung NSC(810;0.171)|all_lung(232;0.203)	178			Sema.		Q9P2H9	Missense_Mutation	SNP	ENST00000343348.6	37	c.533C>T	CCDS47256.1	.	.	.	.	.	.	.	.	.	.	G	35	5.483124	0.96307	.	.	ENSG00000092421	ENST00000343348;ENST00000257414;ENST00000510263	T;T;T	0.19938	2.11;2.11;2.11	6.08	6.08	0.98989	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.044536	0.85682	D	0.000000	T	0.38665	0.1049	L	0.31476	0.935	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.77557	0.99;0.981	T	0.07849	-1.0751	10	0.87932	D	0	.	20.2672	0.98462	0.0:0.0:1.0:0.0	.	178;178	Q9H2E6;Q9H2E6-2	SEM6A_HUMAN;.	V	178	ENSP00000345512:A178V;ENSP00000257414:A178V;ENSP00000424388:A178V	ENSP00000257414:A178V	A	-	2	0	SEMA6A	115855337	1.000000	0.71417	1.000000	0.80357	0.700000	0.40528	9.476000	0.97823	2.894000	0.99253	0.591000	0.81541	GCA		0.458	SEMA6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371270.1	NM_020796		37	57	0	0	0	1	0	37	57					A	115827438	G	A	115827438	3	1	435	1	0	0	0	0	1	0	0	0	14039	1319	46	3	2611	3	SEMA6A	5	115827438	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	4942	115827438	65087822	2755	23680											
DMXL1	1657	broad.mit.edu	37	chr5	118533507	118533507	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaaactcttcaatgttgggAacaagttcttctccgacgac	13	11	7	10	2	4	0	1	0	3	0	5	3	4	1	1	1	2	2	1	1	5	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:118533507A>G	ENST00000311085.8	+	32	7681	c.7601A>G	c.(7600-7602)gAa>gGa	p.E2534G	DMXL1_ENST00000539542.1_Missense_Mutation_p.E2534G	NM_005509.4	NP_005500.4	Q9Y485	DMXL1_HUMAN	Dmx-like 1	2534										breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)	86		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)		CAATGTTGGGAACAAGTTCTT	0.413																																						ENST00000311085.8																			0				breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)	86						c.(7600-7602)gAa>gGa		Dmx-like 1							137	138	137					5																	118533507		2202	4300	6502	SO:0001583	missense	1657							g.chr5:118533507A>G	AJ005821	CCDS4125.1, CCDS75289.1	5q22	2013-01-10			ENSG00000172869	ENSG00000172869		"WD repeat domain containing"	2937	protein-coding gene	gene with protein product		605671				10708522	Standard	NM_005509		Approved		uc003ksd.2	Q9Y485	OTTHUMG00000128898	ENST00000311085.8:c.7601A>G	5.37:g.118533507A>G	ENSP00000309690:p.Glu2534Gly					DMXL1_ENST00000539542.1_Missense_Mutation_p.E2534G	p.E2534G	NM_005509.4	NP_005500.4	Q9Y485	DMXL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)	32	7681	+		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)	2534						Missense_Mutation	SNP	ENST00000311085.8	37	c.7601A>G	CCDS4125.1	.	.	.	.	.	.	.	.	.	.	A	26.0	4.697262	0.88830	.	.	ENSG00000172869	ENST00000311085;ENST00000539542	T;T	0.10960	2.83;2.82	5.41	5.41	0.78517	.	0.044597	0.85682	D	0.000000	T	0.30008	0.0751	M	0.66939	2.045	0.80722	D	1	D;D	0.67145	0.996;0.972	D;P	0.64042	0.921;0.786	T	0.01566	-1.1323	10	0.66056	D	0.02	-14.7554	15.7371	0.77853	1.0:0.0:0.0:0.0	.	2534;2534	F5H269;Q9Y485	.;DMXL1_HUMAN	G	2534	ENSP00000309690:E2534G;ENSP00000439479:E2534G	ENSP00000309690:E2534G	E	+	2	0	DMXL1	118561406	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	8.485000	0.90448	2.177000	0.69029	0.460000	0.39030	GAA		0.413	DMXL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250862.1	NM_005509		23	95	0	0	0	1	0	23	95					G	118533507	A	G	118533507	3	3	435	1	0	0	0	0	1	0	0	0	4594	246	9	4	7727	4	DMXL1	5	118533507	Missense_Mutation	SNP	A	TCGA-XK-AAIW-01A-11D-A41K-08	2706069	118533507	62381753	2756	23681											
TNFAIP8	25816	broad.mit.edu	37	chr5	118728702	118728702	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagagaagatcatcaagaacCtcatcaagacagtcatcaag	18	6	7	10	0	6	4	6	0	0	4	6	5	6	4	1	0	1	0	1	0	5	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:118728702C>A	ENST00000503646.1	+	3	911	c.223C>A	c.(223-225)Ctc>Atc	p.L75I	TNFAIP8_ENST00000415806.2_3'UTR|TNFAIP8_ENST00000513374.1_Missense_Mutation_p.L87I|TNFAIP8_ENST00000504771.2_Missense_Mutation_p.L75I|TNFAIP8_ENST00000274456.6_Missense_Mutation_p.L65I|TNFAIP8_ENST00000504642.1_Missense_Mutation_p.L77I			O95379	TFIP8_HUMAN	tumor necrosis factor, alpha-induced protein 8	75					defense response to Gram-positive bacterium (GO:0050830)|interleukin-1 beta production (GO:0032611)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)	cytoplasm (GO:0005737)	cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)			ovary(1)	1		all_cancers(142;0.0317)|Prostate(80;0.111)|Breast(839;0.231)		Epithelial(69;4.63e-83)|OV - Ovarian serous cystadenocarcinoma(64;1.39e-82)|all cancers(49;4.88e-75)|GBM - Glioblastoma multiforme(465;0.00338)|BRCA - Breast invasive adenocarcinoma(61;0.0148)|COAD - Colon adenocarcinoma(49;0.0829)		CATCAAGAACCTCATCAAGAC	0.408																																						ENST00000504771.2																			0				ovary(1)	1						c.(223-225)Ctc>Atc		tumor necrosis factor, alpha-induced protein 8							70	68	68					5																	118728702		2008	4180	6188	SO:0001583	missense	25816				anti-apoptosis|apoptosis|negative regulation of anti-apoptosis	cytoplasm	caspase inhibitor activity|protein binding	g.chr5:118728702C>A	AF070671	CCDS47257.1, CCDS47258.1, CCDS68933.1	5q23.1	2008-02-05			ENSG00000145779	ENSG00000145779			17260	protein-coding gene	gene with protein product		612111				10233894, 10644768	Standard	NM_001286813		Approved	GG2-1, MDC-3.13, SCC-S2	uc003ksi.3	O95379	OTTHUMG00000162949	ENST00000503646.1:c.223C>A	5.37:g.118728702C>A	ENSP00000421848:p.Leu75Ile					TNFAIP8_ENST00000504642.1_Missense_Mutation_p.L77I|TNFAIP8_ENST00000415806.2_3'UTR|TNFAIP8_ENST00000503646.1_Missense_Mutation_p.L75I|TNFAIP8_ENST00000513374.1_Missense_Mutation_p.L87I|TNFAIP8_ENST00000274456.6_Missense_Mutation_p.L65I	p.L75I	NM_014350.2	NP_055165.2	O95379	TFIP8_HUMAN		Epithelial(69;4.63e-83)|OV - Ovarian serous cystadenocarcinoma(64;1.39e-82)|all cancers(49;4.88e-75)|GBM - Glioblastoma multiforme(465;0.00338)|BRCA - Breast invasive adenocarcinoma(61;0.0148)|COAD - Colon adenocarcinoma(49;0.0829)	2	2000	+		all_cancers(142;0.0317)|Prostate(80;0.111)|Breast(839;0.231)	75					B3KMH1|B3KMI2|B7Z713|Q9P1Q1|Q9UER5|Q9UP47	Missense_Mutation	SNP	ENST00000503646.1	37	c.223C>A	CCDS47258.1	.	.	.	.	.	.	.	.	.	.	C	16.07	3.017596	0.54576	.	.	ENSG00000145779	ENST00000274456;ENST00000388882;ENST00000513374;ENST00000504771;ENST00000503646;ENST00000504642	T;T;T;T;T;T	0.34472	1.36;1.36;1.36;1.36;1.36;1.36	5.8	4.92	0.64577	.	0.000000	0.64402	D	0.000007	T	0.45418	0.1341	L	0.35854	1.095	0.80722	D	1	D;D;D	0.71674	0.992;0.998;0.97	D;D;D	0.85130	0.997;0.997;0.973	T	0.11060	-1.0603	10	0.07482	T	0.82	-17.4039	14.9431	0.71009	0.0:0.9296:0.0:0.0704	.	87;75;65	B7Z713;O95379;O95379-3	.;TFIP8_HUMAN;.	I	65;43;87;75;75;77	ENSP00000274456:L65I;ENSP00000429432:L43I;ENSP00000427424:L87I;ENSP00000422245:L75I;ENSP00000421848:L75I;ENSP00000427160:L77I	ENSP00000274456:L65I	L	+	1	0	TNFAIP8	118756601	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	2.029000	0.41098	2.748000	0.94277	0.655000	0.94253	CTC		0.408	TNFAIP8-002	PUTATIVE	alternative_5_UTR|basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000371134.2	NM_014350		6	8	1	0	0.00116845	1	0.0011864	6	8					A	118728702	C	A	118728702	3	1	435	1	0	0	0	0	1	0	0	0	16273	681	24	5	234	5	TNFAIP8	5	118728702	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	195195	118728702	62186558	2757	23682											
FAM170A	340069	broad.mit.edu	37	chr5	118970010	118970010	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tctgacagtgagcccagtggGgaggagaaagagcatgagga	13	5	17	6	0	1	5	0	3	1	2	1	8	1	7	1	4	2	1	1	4	1	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:118970010G>A	ENST00000515256.1	+	3	739	c.567G>A	c.(565-567)ggG>ggA	p.G189G				A1A519	F170A_HUMAN	family with sequence similarity 170, member A	189					positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(7)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	24						AGCCCAGTGGGGAGGAGAAAG	0.562																																						ENST00000515256.1																			0				breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(7)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	24						c.(565-567)ggG>ggA		family with sequence similarity 170, member A							82	89	87					5																	118970010		2072	4204	6276	SO:0001819	synonymous_variant	340069					intracellular	zinc ion binding	g.chr5:118970010G>A	AF427126	CCDS43353.1, CCDS54889.1	5q23.1	2008-06-12			ENSG00000164334	ENSG00000164334			27963	protein-coding gene	gene with protein product						12477932	Standard	NM_182761		Approved		uc003ksn.3	A1A519	OTTHUMG00000162946	ENST00000515256.1:c.567G>A	5.37:g.118970010G>A							p.G189G			A1A519	F170A_HUMAN			3	739	+			189					Q66LM8|Q7Z4V2|Q8IW94	Silent	SNP	ENST00000515256.1	37	c.567G>A																																																																																					0.562	FAM170A-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000371126.1	NM_182761		19	22	0	0	0	1	0	19	22					A	118970010	G	A	118970010	2	1	435	1	0	0	0	0	0	0	0	1	5489	1219	43	3		3	FAM170A	5	118970010	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	241308	118970010	61945250	2758	23683											
FAM170A	340069	broad.mit.edu	37	chr5	118970052	118970052	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggacagaatcagacagcctGccaggctcacccaccgttga	12	5	10	14	1	2	3	2	1	0	2	2	4	2	4	4	2	2	2	4	2	1	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:118970052G>A	ENST00000515256.1	+	3	781	c.609G>A	c.(607-609)ctG>ctA	p.L203L				A1A519	F170A_HUMAN	family with sequence similarity 170, member A	203					positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.L203L(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(7)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	24						CAGACAGCCTGCCAGGCTCAC	0.592																																						ENST00000515256.1																			1	Substitution - coding silent(1)	p.L203L(1)	large_intestine(1)	breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(7)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	24						c.(607-609)ctG>ctA		family with sequence similarity 170, member A							85	94	91					5																	118970052		2117	4230	6347	SO:0001819	synonymous_variant	340069					intracellular	zinc ion binding	g.chr5:118970052G>A	AF427126	CCDS43353.1, CCDS54889.1	5q23.1	2008-06-12			ENSG00000164334	ENSG00000164334			27963	protein-coding gene	gene with protein product						12477932	Standard	NM_182761		Approved		uc003ksn.3	A1A519	OTTHUMG00000162946	ENST00000515256.1:c.609G>A	5.37:g.118970052G>A							p.L203L			A1A519	F170A_HUMAN			3	781	+			203					Q66LM8|Q7Z4V2|Q8IW94	Silent	SNP	ENST00000515256.1	37	c.609G>A																																																																																					0.592	FAM170A-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000371126.1	NM_182761		4	51	0	0	0	1	0	4	51					A	118970052	G	A	118970052	2	1	435	1	0	0	0	0	0	0	0	1	5489	1306	46	3		3	FAM170A	5	118970052	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	42	118970052	61945208	2759	23684											
FTMT	94033	broad.mit.edu	37	chr5	121187725	121187725	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tggcgtctctgcgcccggtgCgctgctgcttcgcgctcccg	0	10	14	17	7	1	0	0	0	1	0	4	0	2	0	2	2	4	4	2	2	0	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:121187725C>T	ENST00000321339.1	+	1	76	c.67C>T	c.(67-69)Cgc>Tgc	p.R23C		NM_177478.1	NP_803431.1	Q8N4E7	FTMT_HUMAN	ferritin mitochondrial	23					cellular iron ion homeostasis (GO:0006879)|iron ion transport (GO:0006826)|positive regulation of cell proliferation (GO:0008284)|positive regulation of lyase activity (GO:0051349)|positive regulation of oxidoreductase activity (GO:0051353)|positive regulation of transferase activity (GO:0051347)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	ferric iron binding (GO:0008199)|ferroxidase activity (GO:0004322)	p.R23C(1)		NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	33		all_cancers(142;0.0124)|Prostate(80;0.0322)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	Epithelial(69;0.000171)|OV - Ovarian serous cystadenocarcinoma(64;0.000188)|all cancers(49;0.0027)		GCGCCCGGTGCGCTGCTGCTT	0.731																																						ENST00000321339.1																			1	Substitution - Missense(1)	p.R23C(1)	lung(1)	NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	33						c.(67-69)Cgc>Tgc		ferritin mitochondrial							16	18	17					5																	121187725		2198	4292	6490	SO:0001583	missense	94033				cellular iron ion homeostasis|iron ion transport|positive regulation of cell proliferation|positive regulation of lyase activity|positive regulation of oxidoreductase activity|positive regulation of transferase activity	mitochondrion	ferric iron binding|ferroxidase activity	g.chr5:121187725C>T	BC034419	CCDS4128.1	5q23.1	2008-02-05			ENSG00000181867	ENSG00000181867			17345	protein-coding gene	gene with protein product		608847				11323407	Standard	NM_177478		Approved	MtF	uc003kss.3	Q8N4E7	OTTHUMG00000128912	ENST00000321339.1:c.67C>T	5.37:g.121187725C>T	ENSP00000313691:p.Arg23Cys						p.R23C	NM_177478.1	NP_803431.1	Q8N4E7	FTMT_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.206)	Epithelial(69;0.000171)|OV - Ovarian serous cystadenocarcinoma(64;0.000188)|all cancers(49;0.0027)	1	76	+		all_cancers(142;0.0124)|Prostate(80;0.0322)	23						Missense_Mutation	SNP	ENST00000321339.1	37	c.67C>T	CCDS4128.1	.	.	.	.	.	.	.	.	.	.	C	8.592	0.884920	0.17540	.	.	ENSG00000181867	ENST00000321339	T	0.63580	-0.05	2.95	0.0714	0.14382	.	.	.	.	.	T	0.41994	0.1183	L	0.27053	0.805	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.27606	-1.0069	9	0.46703	T	0.11	.	2.3777	0.04346	0.2393:0.4726:0.0:0.288	.	23	Q8N4E7	FTMT_HUMAN	C	23	ENSP00000313691:R23C	ENSP00000313691:R23C	R	+	1	0	FTMT	121215624	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.252000	0.08806	-0.015000	0.14150	-0.760000	0.03462	CGC		0.731	FTMT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250884.1	NM_177478		13	20	0	0	0	1	0	13	20					T	121187725	C	T	121187725	3	4	435	1	0	0	0	0	1	0	0	0	6085	768	27	1	69	1	FTMT	5	121187725	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	2217673	121187725	59727535	2760	23685											
SNX24	28966	broad.mit.edu	37	chr5	122272467	122272467	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctaatgaatggaagaaaacaTtttgttgaaaagagatacag	19	10	9	3	0	0	4	0	2	0	2	0	6	0	5	0	1	2	1	0	1	8	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:122272467T>C	ENST00000261369.4	+	2	284	c.99T>C	c.(97-99)caT>caC	p.H33H	SNX24_ENST00000395451.4_Silent_p.H66H|SNX24_ENST00000511211.1_3'UTR|SNX24_ENST00000506996.1_Silent_p.H33H|SNX24_ENST00000513881.1_Silent_p.H33H	NM_014035.2	NP_054754.1	Q9Y343	SNX24_HUMAN	sorting nexin 24	33	PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.				protein transport (GO:0015031)	cytoplasmic vesicle (GO:0031410)|membrane (GO:0016020)	phosphatidylinositol binding (GO:0035091)			lung(5)	5		Prostate(80;0.0387)	KIRC - Kidney renal clear cell carcinoma(527;0.0897)|Kidney(363;0.137)	OV - Ovarian serous cystadenocarcinoma(64;0.000654)|Epithelial(69;0.0016)|all cancers(49;0.0139)		GAAGAAAACATTTTGTTGAAA	0.303																																						ENST00000261369.4																			0				lung(5)	5						c.(97-99)caT>caC		sorting nexin 24							127	116	119					5																	122272467		2203	4299	6502	SO:0001819	synonymous_variant	28966				cell communication|protein transport	cytoplasmic vesicle membrane	phosphatidylinositol binding	g.chr5:122272467T>C	AF139461	CCDS4132.1	5q23.2	2008-03-11	2007-08-15		ENSG00000064652	ENSG00000064652		"Sorting nexins"	21533	protein-coding gene	gene with protein product						12461558	Standard	NM_014035		Approved	SBBI31	uc011cwo.2	Q9Y343	OTTHUMG00000128913	ENST00000261369.4:c.99T>C	5.37:g.122272467T>C						SNX24_ENST00000511211.1_3'UTR|SNX24_ENST00000513881.1_Silent_p.H33H|SNX24_ENST00000395451.4_Silent_p.H66H|SNX24_ENST00000506996.1_Silent_p.H33H	p.H33H	NM_014035.2	NP_054754.1	Q9Y343	SNX24_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0897)|Kidney(363;0.137)	OV - Ovarian serous cystadenocarcinoma(64;0.000654)|Epithelial(69;0.0016)|all cancers(49;0.0139)	2	284	+		Prostate(80;0.0387)	33			PX.		Q6UY33	Silent	SNP	ENST00000261369.4	37	c.99T>C	CCDS4132.1																																																																																				0.303	SNX24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250885.2	NM_014035		17	39	0	0	0	1	0	17	39					C	122272467	T	C	122272467	2	2	435	1	0	0	0	0	0	0	0	1	14895	1490	52	4		4	SNX24	5	122272467	Silent	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	1084742	122272467	58642793	2761	23686											
ZNF608	57507	broad.mit.edu	37	chr5	123983470	123983470	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atgcggctctcctgagactcCgacagtccatttgccagccc	7	9	9	16	2	1	1	0	1	1	1	4	3	3	1	5	1	3	1	5	1	0	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:123983470C>T	ENST00000306315.5	-	4	3042	c.2607G>A	c.(2605-2607)tcG>tcA	p.S869S	ZNF608_ENST00000504926.1_Silent_p.S442S	NM_020747.2	NP_065798.2	Q9ULD9	ZN608_HUMAN	zinc finger protein 608	869							metal ion binding (GO:0046872)			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(12)|ovary(3)|skin(6)|urinary_tract(1)	46		all_cancers(142;0.186)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783)		CCTGAGACTCCGACAGTCCAT	0.517																																						ENST00000306315.5																			0				breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(12)|ovary(3)|skin(6)|urinary_tract(1)	46						c.(2605-2607)tcG>tcA		zinc finger protein 608							82	82	82					5																	123983470		2203	4300	6503	SO:0001819	synonymous_variant	57507					intracellular	zinc ion binding	g.chr5:123983470C>T	AB033107	CCDS34219.1	5q23.2	2008-05-02			ENSG00000168916	ENSG00000168916		"Zinc fingers, C2H2-type"	29238	protein-coding gene	gene with protein product						10574462, 10508479	Standard	NM_020747		Approved	KIAA1281, DKFZp434M098, NY-REN-36	uc003ktq.1	Q9ULD9	OTTHUMG00000162999	ENST00000306315.5:c.2607G>A	5.37:g.123983470C>T						ZNF608_ENST00000504926.1_Silent_p.S442S	p.S869S	NM_020747.2	NP_065798.2	Q9ULD9	ZN608_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783)	4	3042	-		all_cancers(142;0.186)|Prostate(80;0.081)	869					A7E2W9|Q3SYM6|Q68D12|Q8IY05|Q9Y5A1	Silent	SNP	ENST00000306315.5	37	c.2607G>A	CCDS34219.1																																																																																				0.517	ZNF608-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371300.1	XM_114432		47	57	0	0	0	1	0	47	57					T	123983470	C	T	123983470	2	4	435	1	0	0	0	0	0	0	0	1	18031	639	23	2		2	ZNF608	5	123983470	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	1711003	123983470	56931790	2762	23687											
ALDH7A1	501	broad.mit.edu	37	chr5	125890047	125890047	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctccaagaaacatgctcaCtgcctgcttggtgtggagtg	8	11	12	10	0	1	1	1	0	0	1	2	2	2	2	2	2	5	3	2	2	2	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:125890047C>A	ENST00000409134.3	-	13	1351	c.1132G>T	c.(1132-1134)Gtg>Ttg	p.V378L	RNU6-963P_ENST00000363477.1_RNA|ALDH7A1_ENST00000553117.1_Intron|ALDH7A1_ENST00000447989.2_Intron	NM_001182.4|NM_001201377.1	NP_001173.2|NP_001188306.1	P49419	AL7A1_HUMAN	aldehyde dehydrogenase 7 family, member A1	378					cellular aldehyde metabolic process (GO:0006081)|cellular nitrogen compound metabolic process (GO:0034641)|glycine betaine biosynthetic process from choline (GO:0019285)|lysine catabolic process (GO:0006554)|sensory perception of sound (GO:0007605)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	aldehyde dehydrogenase (NAD) activity (GO:0004029)|betaine-aldehyde dehydrogenase activity (GO:0008802)|L-aminoadipate-semialdehyde dehydrogenase activity (GO:0004043)			endometrium(1)|kidney(4)|large_intestine(4)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	16		all_cancers(142;0.24)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.0584)|Kidney(363;0.0934)	Epithelial(69;0.0417)|OV - Ovarian serous cystadenocarcinoma(64;0.068)|all cancers(49;0.109)		AACATGCTCACTGCCTGCTTG	0.473																																						ENST00000409134.3																			0				endometrium(1)|kidney(4)|large_intestine(4)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	16						c.(1132-1134)Gtg>Ttg		aldehyde dehydrogenase 7 family, member A1	NADH(DB00157)|Pyridoxine(DB00165)						203	167	179					5																	125890047		2203	4300	6503	SO:0001583	missense	501				cellular aldehyde metabolic process|lysine catabolic process|sensory perception of sound	cytosol|mitochondrial matrix|nucleus	aldehyde dehydrogenase (NAD) activity|betaine-aldehyde dehydrogenase activity|L-aminoadipate-semialdehyde dehydrogenase activity	g.chr5:125890047C>A	S74728	CCDS4137.2, CCDS56380.1	5q31	2013-06-03			ENSG00000164904	ENSG00000164904	1.2.1.31	"Aldehyde dehydrogenases"	877	protein-coding gene	gene with protein product	"antiquitin 1", "26g turgor protein homolog", "alpha-aminoadipic semialdehyde dehydrogenase", "alpha-AASA dehydrogenase", "delta1-piperideine-6-carboxylate dehydrogenease", "P6c dehydrogenase"	107323		ATQ1		9417906	Standard	NM_001182		Approved	EPD, PDE	uc003ktx.3	P49419	OTTHUMG00000128942	ENST00000409134.3:c.1132G>T	5.37:g.125890047C>A	ENSP00000387123:p.Val378Leu					ALDH7A1_ENST00000553117.1_Intron|ALDH7A1_ENST00000447989.2_Intron	p.V378L	NM_001182.4|NM_001201377.1	NP_001173.2|NP_001188306.1	P49419	AL7A1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0584)|Kidney(363;0.0934)	Epithelial(69;0.0417)|OV - Ovarian serous cystadenocarcinoma(64;0.068)|all cancers(49;0.109)	13	1351	-		all_cancers(142;0.24)|Prostate(80;0.081)	378					B2R669|B4DIC7|B4DMA0|E7EPT3|O14619|Q6IPU8|Q9BUL4	Missense_Mutation	SNP	ENST00000409134.3	37	c.1132G>T	CCDS4137.2	.	.	.	.	.	.	.	.	.	.	C	17.95	3.513104	0.64522	.	.	ENSG00000164904	ENST00000409134;ENST00000437170	D	0.90324	-2.65	4.6	4.6	0.57074	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, C-terminal (1);Aldehyde/histidinol dehydrogenase (1);	0.000000	0.85682	D	0.000000	D	0.87625	0.6224	L	0.44542	1.39	0.80722	D	1	B	0.29671	0.254	B	0.28305	0.088	D	0.86809	0.1997	10	0.56958	D	0.05	.	17.5604	0.87905	0.0:1.0:0.0:0.0	.	378	P49419	AL7A1_HUMAN	L	378;186	ENSP00000387123:V378L	ENSP00000387123:V378L	V	-	1	0	ALDH7A1	125917946	1.000000	0.71417	1.000000	0.80357	0.773000	0.43773	7.563000	0.82314	2.554000	0.86153	0.655000	0.94253	GTG		0.473	ALDH7A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250921.2	NM_001182		6	147	1	0	0.248553	1	0.248844	6	147					A	125890047	C	A	125890047	3	1	435	1	0	0	0	0	1	0	0	0	504	565	20	5	511	5	ALDH7A1	5	125890047	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	1906577	125890047	55025213	2763	23688											
MARCH3	115123	broad.mit.edu	37	chr5	126250790	126250790	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctcttggctgctgccctcGtggcagatcctgcacatcgg	4	11	11	15	2	1	1	0	0	1	1	5	1	3	1	3	3	3	4	3	3	0	1	rs140296174	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:126250790G>A	ENST00000308660.5	-	3	739	c.225C>T	c.(223-225)caC>caT	p.H75H	MARCH3_ENST00000515241.1_Silent_p.H75H|MARCH3_ENST00000502289.1_5'UTR	NM_178450.3	NP_848545.1	Q86UD3	MARH3_HUMAN	membrane-associated ring finger (C3HC4) 3, E3 ubiquitin protein ligase	75					endocytosis (GO:0006897)|protein ubiquitination (GO:0016567)	cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			large_intestine(2)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	6		Prostate(80;0.0928)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	Epithelial(69;0.074)|OV - Ovarian serous cystadenocarcinoma(64;0.0793)		TGCTGCCCTCGTGGCAGATCC	0.592													g|||	8	0.00159744	0.0015	0	5008	,	,		14815	0.001		0	False		,,,				2504	0.0051					ENST00000308660.5																			0				large_intestine(2)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	6						c.(223-225)caC>caT		membrane-associated ring finger (C3HC4) 3, E3 ubiquitin protein ligase		A		4,4402	6.2+/-15.9	0,4,2199	59	55	57		225	-5.9	0.8	5	dbSNP_134	57	0,8600		0,0,4300	no	coding-synonymous	MARCH3	NM_178450.3		0,4,6499	AA,AG,GG		0.0,0.0908,0.0308		75/254	126250790	4,13002	2203	4300	6503	SO:0001819	synonymous_variant	115123				endocytosis	cytoplasmic vesicle membrane|early endosome membrane|integral to membrane|lysosome	ligase activity|zinc ion binding	g.chr5:126250790G>A	AF055007	CCDS4141.1	5q23.2	2013-01-09	2012-02-23		ENSG00000173926	ENSG00000173926		"MARCH membrane-associated ring fingers", "RING-type (C3HC4) zinc fingers"	28728	protein-coding gene	gene with protein product		613333	"membrane-associated ring finger (C3HC4) 3"			14722266, 8619474	Standard	NM_178450		Approved	MGC48332, MARCH-III, RNF173	uc003kuf.4	Q86UD3	OTTHUMG00000128968	ENST00000308660.5:c.225C>T	5.37:g.126250790G>A						MARCH3_ENST00000515241.1_Silent_p.H75H|MARCH3_ENST00000502289.1_5'UTR	p.H75H	NM_178450.3	NP_848545.1	Q86UD3	MARH3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	Epithelial(69;0.074)|OV - Ovarian serous cystadenocarcinoma(64;0.0793)	3	739	-		Prostate(80;0.0928)	75					A8K264|B9EJE7	Silent	SNP	ENST00000308660.5	37	c.225C>T	CCDS4141.1																																																																																				0.592	MARCH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250955.2	NM_178450		14	20	0	0	0	1	0	14	20					A	126250790	G	A	126250790	2	1	435	1	0	0	0	0	0	0	0	1	9302	1136	40	1		1	MARCH3	5	126250790	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	360743	126250790	54664470	2764	23689											
MEGF10	84466	broad.mit.edu	37	chr5	126781226	126781226	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgctgattcctaccagatcGgggccattgcaggcatcatc	8	10	10	13	1	1	2	1	1	0	1	4	2	2	2	3	3	3	3	3	3	1	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:126781226G>A	ENST00000274473.6	+	21	2836	c.2569G>A	c.(2569-2571)Ggg>Agg	p.G857R	MEGF10_ENST00000503335.2_Missense_Mutation_p.G857R|MEGF10_ENST00000510828.1_Intron	NM_032446.2	NP_115822.1	Q96KG7	MEG10_HUMAN	multiple EGF-like-domains 10	857	Necessary for interaction with AP2M1, self-assembly and formation of the irregular, mosaic-like adhesion pattern.				homotypic cell-cell adhesion (GO:0034109)|muscle cell development (GO:0055001)|recognition of apoptotic cell (GO:0043654)|regulation of muscle cell differentiation (GO:0051147)|regulation of skeletal muscle tissue development (GO:0048641)|skeletal muscle satellite cell activation (GO:0014719)|skeletal muscle satellite cell differentiation (GO:0014816)|skeletal muscle satellite cell proliferation (GO:0014841)	cell projection (GO:0042995)|integral component of membrane (GO:0016021)|phagocytic cup (GO:0001891)				breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(28)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	68		Prostate(80;0.165)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123)		CTACCAGATCGGGGCCATTGC	0.433																																						ENST00000274473.6																			0				breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(28)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	68						c.(2569-2571)Ggg>Agg		multiple EGF-like-domains 10							165	153	157					5																	126781226		2203	4300	6503	SO:0001583	missense	84466				cell adhesion|phagocytosis	basolateral plasma membrane|cell projection|integral to membrane|phagocytic cup		g.chr5:126781226G>A	AK021631	CCDS4142.1	5q33	2008-02-05			ENSG00000145794	ENSG00000145794			29634	protein-coding gene	gene with protein product		612453				11347906	Standard	NM_032446		Approved	KIAA1780	uc003kui.4	Q96KG7	OTTHUMG00000128984	ENST00000274473.6:c.2569G>A	5.37:g.126781226G>A	ENSP00000274473:p.Gly857Arg					MEGF10_ENST00000510828.1_Intron|MEGF10_ENST00000503335.2_Missense_Mutation_p.G857R	p.G857R	NM_032446.2	NP_115822.1	Q96KG7	MEG10_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123)	21	2836	+		Prostate(80;0.165)	857			Necessary for interaction with AP2M1, self-assembly and formation of the irregular, mosaic-like adhesion pattern.		Q68DE5|Q8WUL3	Missense_Mutation	SNP	ENST00000274473.6	37	c.2569G>A	CCDS4142.1	.	.	.	.	.	.	.	.	.	.	G	29.6	5.020354	0.93462	.	.	ENSG00000145794	ENST00000503335;ENST00000274473	D;D	0.82526	-1.62;-1.62	5.68	5.68	0.88126	.	0.000000	0.85682	D	0.000000	D	0.90659	0.7070	M	0.76574	2.34	0.80722	D	1	D	0.89917	1.0	D	0.71656	0.974	D	0.88297	0.2947	10	0.30854	T	0.27	-12.9308	19.7775	0.96400	0.0:0.0:1.0:0.0	.	857	Q96KG7	MEG10_HUMAN	R	857	ENSP00000423354:G857R;ENSP00000274473:G857R	ENSP00000274473:G857R	G	+	1	0	MEGF10	126809125	1.000000	0.71417	1.000000	0.80357	0.750000	0.42670	9.827000	0.99397	2.681000	0.91329	0.563000	0.77884	GGG		0.433	MEGF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250973.2	NM_032446		35	55	0	0	0	1	0	35	55					A	126781226	G	A	126781226	3	1	435	1	0	0	0	0	1	0	0	0	9460	1116	39	2	2643	2	MEGF10	5	126781226	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	530436	126781226	54134034	2765	23690											
PRRC1	133619	broad.mit.edu	37	chr5	126883555	126883555	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ggttgaagatcctgtccatgGcattcatctagaaacattta	12	13	8	8	0	2	3	1	1	1	2	4	3	4	3	2	2	1	2	2	2	4	5	rs139023434		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:126883555G>A	ENST00000296666.8	+	8	1258	c.1070G>A	c.(1069-1071)gGc>gAc	p.G357D	PRRC1_ENST00000513427.1_3'UTR|PRRC1_ENST00000512635.2_Missense_Mutation_p.G357D|PRRC1_ENST00000442138.2_Missense_Mutation_p.G357D	NM_130809.3	NP_570721.1	Q96M27	PRRC1_HUMAN	proline-rich coiled-coil 1	357						Golgi apparatus (GO:0005794)				endometrium(1)|large_intestine(1)|lung(4)	6		Prostate(80;0.165)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0851)|Epithelial(69;0.113)		CCTGTCCATGGCATTCATCTA	0.383																																						ENST00000442138.2																			0				endometrium(1)|large_intestine(1)|lung(4)	6						c.(1069-1071)gGc>gAc		proline-rich coiled-coil 1							205	190	195					5																	126883555		2203	4300	6503	SO:0001583	missense	133619					Golgi apparatus		g.chr5:126883555G>A	AJ515429	CCDS4143.1, CCDS68943.1	5q23.2	2008-02-05			ENSG00000164244	ENSG00000164244			28164	protein-coding gene	gene with protein product						15541471	Standard	NM_130809		Approved	FLJ32875	uc003kuk.3	Q96M27	OTTHUMG00000128982	ENST00000296666.8:c.1070G>A	5.37:g.126883555G>A	ENSP00000296666:p.Gly357Asp					PRRC1_ENST00000512635.2_Missense_Mutation_p.G357D|PRRC1_ENST00000296666.8_Missense_Mutation_p.G357D|PRRC1_ENST00000513427.1_3'UTR	p.G357D			Q96M27	PRRC1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0851)|Epithelial(69;0.113)	8	1216	+		Prostate(80;0.165)	357					Q69YM8|Q7L2U7|Q86Y42|Q8IVJ4|Q8IVL4|Q8NEZ7|Q96AJ3	Missense_Mutation	SNP	ENST00000296666.8	37	c.1070G>A	CCDS4143.1	.	.	.	.	.	.	.	.	.	.	G	16.11	3.029007	0.54790	.	.	ENSG00000164244	ENST00000296666;ENST00000442138;ENST00000330542;ENST00000512635;ENST00000512535	.	.	.	5.27	3.43	0.39272	.	0.103466	0.64402	D	0.000003	T	0.47764	0.1463	L	0.43152	1.355	0.53688	D	0.999973	B;B	0.30146	0.123;0.27	B;B	0.29785	0.084;0.107	T	0.51092	-0.8749	9	0.52906	T	0.07	-10.2001	10.5354	0.45000	0.0737:0.133:0.7933:0.0	.	357;357	Q96M27;Q96M27-5	PRRC1_HUMAN;.	D	357	.	ENSP00000296666:G357D	G	+	2	0	PRRC1	126911454	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.386000	0.66238	1.425000	0.47237	0.650000	0.86243	GGC		0.383	PRRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250971.3	NM_130809		14	40	0	0	0	1	0	14	40					A	126883555	G	A	126883555	3	1	435	1	0	0	0	0	1	0	0	0	12604	1203	42	3	1096	3	PRRC1	5	126883555	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	102329	126883555	54031705	2766	23691											
FBN2	2201	broad.mit.edu	37	chr5	127614381	127614381	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acatatctttttgtactgggCagttccaggaagtgggcaaa	11	12	11	7	0	1	0	0	0	1	0	2	1	2	1	1	3	1	4	1	3	4	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:127614381C>T	ENST00000508053.1	-	63	8265	c.7291G>A	c.(7291-7293)Gcc>Acc	p.A2431T	FBN2_ENST00000262464.4_Missense_Mutation_p.A2431T			P35556	FBN2_HUMAN	fibrillin 2	2431	TB 9.				anatomical structure morphogenesis (GO:0009653)|bone trabecula formation (GO:0060346)|embryonic limb morphogenesis (GO:0030326)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|sequestering of TGFbeta in extracellular matrix (GO:0035583)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		TTGTACTGGGCAGTTCCAGGA	0.468																																						ENST00000508053.1																			0				NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197						c.(7291-7293)Gcc>Acc		fibrillin 2							111	104	107					5																	127614381		2203	4300	6503	SO:0001583	missense	2201				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent	g.chr5:127614381C>T	U03272	CCDS34222.1	5q23-q31	2008-08-01	2008-08-01			ENSG00000138829			3604	protein-coding gene	gene with protein product	"fibrillin 5"	612570	"congenital contractural arachnodactyly"	CCA		1852206, 8120105	Standard	NM_001999		Approved	DA9	uc003kuu.3	P35556		ENST00000508053.1:c.7291G>A	5.37:g.127614381C>T	ENSP00000424571:p.Ala2431Thr					FBN2_ENST00000262464.4_Missense_Mutation_p.A2431T	p.A2431T			P35556	FBN2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)	63	8265	-		all_cancers(142;0.0216)|Prostate(80;0.0551)	2431			TB 9.		B4DU01|Q59ES6	Missense_Mutation	SNP	ENST00000508053.1	37	c.7291G>A	CCDS34222.1	.	.	.	.	.	.	.	.	.	.	C	10.53	1.374826	0.24857	.	.	ENSG00000138829	ENST00000262464;ENST00000508053	D;D	0.93366	-3.21;-3.21	5.08	4.21	0.49690	Matrix fibril-associated (3);TGF-beta binding (1);	0.237499	0.29631	N	0.011607	D	0.86401	0.5924	L	0.38838	1.175	0.29427	N	0.860169	B	0.15473	0.013	B	0.17433	0.018	T	0.71869	-0.4462	10	0.16420	T	0.52	.	5.7847	0.18326	0.188:0.6709:0.0:0.1411	.	2431	P35556	FBN2_HUMAN	T	2431	ENSP00000262464:A2431T;ENSP00000424571:A2431T	ENSP00000262464:A2431T	A	-	1	0	FBN2	127642280	0.010000	0.17322	1.000000	0.80357	0.959000	0.62525	-0.039000	0.12124	2.791000	0.96007	0.650000	0.86243	GCC		0.468	FBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371618.2	NM_001999		7	60	0	0	0	1	0	7	60					T	127614381	C	T	127614381	3	4	435	1	0	0	0	0	1	0	0	0	5703	710	25	3	1483	3	FBN2	5	127614381	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	730826	127614381	53300879	2767	23692											
FBN2	2201	broad.mit.edu	37	chr5	127641254	127641254	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acccgcggcacattcacagcGgtaactaccaggactattga	12	7	9	13	3	1	1	1	1	0	0	1	2	1	2	2	3	3	2	2	3	3	5	rs142454731		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:127641254G>A	ENST00000508053.1	-	50	6597	c.5623C>T	c.(5623-5625)Cgc>Tgc	p.R1875C	FBN2_ENST00000262464.4_Missense_Mutation_p.R1875C			P35556	FBN2_HUMAN	fibrillin 2	1875	EGF-like 30; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				anatomical structure morphogenesis (GO:0009653)|bone trabecula formation (GO:0060346)|embryonic limb morphogenesis (GO:0030326)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|sequestering of TGFbeta in extracellular matrix (GO:0035583)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		CATTCACAGCGGTAACTACCA	0.453																																						ENST00000508053.1																			0				NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197						c.(5623-5625)Cgc>Tgc		fibrillin 2		G	CYS/ARG	0,4406		0,0,2203	96	94	95		5623	4.5	1	5	dbSNP_134	95	1,8599	1.2+/-3.3	0,1,4299	no	missense	FBN2	NM_001999.3	180	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	1875/2913	127641254	1,13005	2203	4300	6503	SO:0001583	missense	2201				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent	g.chr5:127641254G>A	U03272	CCDS34222.1	5q23-q31	2008-08-01	2008-08-01			ENSG00000138829			3604	protein-coding gene	gene with protein product	"fibrillin 5"	612570	"congenital contractural arachnodactyly"	CCA		1852206, 8120105	Standard	NM_001999		Approved	DA9	uc003kuu.3	P35556		ENST00000508053.1:c.5623C>T	5.37:g.127641254G>A	ENSP00000424571:p.Arg1875Cys					FBN2_ENST00000262464.4_Missense_Mutation_p.R1875C	p.R1875C			P35556	FBN2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)	50	6597	-		all_cancers(142;0.0216)|Prostate(80;0.0551)	1875			EGF-like 30; calcium-binding.		B4DU01|Q59ES6	Missense_Mutation	SNP	ENST00000508053.1	37	c.5623C>T	CCDS34222.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.365374	0.82463	0.0	1.16E-4	ENSG00000138829	ENST00000262464;ENST00000508053	D;D	0.92545	-3.06;-3.06	5.35	4.47	0.54385	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.199017	0.36338	N	0.002644	D	0.96430	0.8835	M	0.90369	3.11	0.58432	D	0.999996	D	0.89917	1.0	D	0.73380	0.98	D	0.96430	0.9318	10	0.72032	D	0.01	.	14.9771	0.71283	0.0715:0.0:0.9285:0.0	.	1875	P35556	FBN2_HUMAN	C	1875	ENSP00000262464:R1875C;ENSP00000424571:R1875C	ENSP00000262464:R1875C	R	-	1	0	FBN2	127669153	1.000000	0.71417	1.000000	0.80357	0.692000	0.40212	7.321000	0.79088	2.941000	0.99782	0.655000	0.94253	CGC		0.453	FBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371618.2	NM_001999		39	43	0	0	0	1	0	39	43					A	127641254	G	A	127641254	3	1	435	1	0	0	0	0	1	0	0	0	5703	1116	39	2	3203	2	FBN2	5	127641254	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	26873	127641254	53274006	2768	23693											
FBN2	2201	broad.mit.edu	37	chr5	127681174	127681174	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacactcggtgccccaagccGccccgacagcacagcagcag	10	2	10	19	3	0	0	0	0	0	0	1	1	0	0	5	1	5	3	5	1	1	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:127681174G>A	ENST00000508053.1	-	30	4066	c.3092C>T	c.(3091-3093)gCg>gTg	p.A1031V	FBN2_ENST00000508989.1_Missense_Mutation_p.A998V|FBN2_ENST00000262464.4_Missense_Mutation_p.A1031V			P35556	FBN2_HUMAN	fibrillin 2	1031	TB 5.				anatomical structure morphogenesis (GO:0009653)|bone trabecula formation (GO:0060346)|embryonic limb morphogenesis (GO:0030326)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|sequestering of TGFbeta in extracellular matrix (GO:0035583)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		GCCCCAAGCCGCCCCGACAGC	0.592																																						ENST00000508053.1																			0				NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197						c.(3091-3093)gCg>gTg		fibrillin 2							78	77	77					5																	127681174		2203	4300	6503	SO:0001583	missense	2201				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent	g.chr5:127681174G>A	U03272	CCDS34222.1	5q23-q31	2008-08-01	2008-08-01			ENSG00000138829			3604	protein-coding gene	gene with protein product	"fibrillin 5"	612570	"congenital contractural arachnodactyly"	CCA		1852206, 8120105	Standard	NM_001999		Approved	DA9	uc003kuu.3	P35556		ENST00000508053.1:c.3092C>T	5.37:g.127681174G>A	ENSP00000424571:p.Ala1031Val					FBN2_ENST00000262464.4_Missense_Mutation_p.A1031V|FBN2_ENST00000508989.1_Missense_Mutation_p.A998V	p.A1031V			P35556	FBN2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)	30	4066	-		all_cancers(142;0.0216)|Prostate(80;0.0551)	1031			TB 5.		B4DU01|Q59ES6	Missense_Mutation	SNP	ENST00000508053.1	37	c.3092C>T	CCDS34222.1	.	.	.	.	.	.	.	.	.	.	G	16.72	3.201165	0.58234	.	.	ENSG00000138829	ENST00000262464;ENST00000508053;ENST00000508989	D;D;D	0.93133	-3.17;-3.17;-3.17	4.22	4.22	0.49857	Matrix fibril-associated (3);TGF-beta binding (1);	0.194922	0.34853	N	0.003627	D	0.93733	0.7997	M	0.63428	1.95	0.38263	D	0.941921	D;B	0.54207	0.965;0.106	P;B	0.51079	0.658;0.013	D	0.92773	0.6234	10	0.23891	T	0.37	.	17.9071	0.88921	0.0:0.0:1.0:0.0	.	998;1031	D6RJI3;P35556	.;FBN2_HUMAN	V	1031;1031;998	ENSP00000262464:A1031V;ENSP00000424571:A1031V;ENSP00000425596:A998V	ENSP00000262464:A1031V	A	-	2	0	FBN2	127709073	0.710000	0.27896	0.984000	0.44739	0.989000	0.77384	3.800000	0.55537	2.654000	0.90174	0.563000	0.77884	GCG		0.592	FBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371618.2	NM_001999		14	39	0	0	0	1	0	14	39					A	127681174	G	A	127681174	3	1	435	1	0	0	0	0	1	0	0	0	5703	1087	38	1	5814	1	FBN2	5	127681174	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	39920	127681174	53234086	2769	23694											
SLC27A6	28965	broad.mit.edu	37	chr5	128302176	128302176	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ctctgctgatgagcaatgagCcggacttcgttcacgtgtgg	7	11	13	10	3	2	3	1	3	1	0	3	4	2	4	1	2	3	3	1	2	1	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:128302176C>T	ENST00000262462.4	+	1	1356	c.346C>T	c.(346-348)Ccg>Tcg	p.P116S	SLC27A6_ENST00000395266.1_Missense_Mutation_p.P116S|SLC27A6_ENST00000506176.1_Missense_Mutation_p.P116S			Q9Y2P4	S27A6_HUMAN	solute carrier family 27 (fatty acid transporter), member 6	116					long-chain fatty acid metabolic process (GO:0001676)|long-chain fatty acid transport (GO:0015909)|transmembrane transport (GO:0055085)|very long-chain fatty acid metabolic process (GO:0000038)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	long-chain fatty acid-CoA ligase activity (GO:0004467)|nucleotide binding (GO:0000166)|very long-chain fatty acid-CoA ligase activity (GO:0031957)			NS(2)|endometrium(1)|kidney(3)|large_intestine(11)|liver(1)|lung(20)|prostate(1)|skin(4)|stomach(1)	44		all_cancers(142;0.0483)|Prostate(80;0.055)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Epithelial(69;0.171)|OV - Ovarian serous cystadenocarcinoma(64;0.186)		GAGCAATGAGCCGGACTTCGT	0.557																																						ENST00000262462.4																			0				NS(2)|endometrium(1)|kidney(3)|large_intestine(11)|liver(1)|lung(20)|prostate(1)|skin(4)|stomach(1)	44						c.(346-348)Ccg>Tcg		solute carrier family 27 (fatty acid transporter), member 6							83	64	70					5																	128302176		2203	4300	6503	SO:0001583	missense	28965				long-chain fatty acid transport|transmembrane transport|very long-chain fatty acid metabolic process	integral to membrane|sarcolemma	fatty acid transporter activity|long-chain fatty acid-CoA ligase activity|nucleotide binding	g.chr5:128302176C>T	AF064254	CCDS4145.1	5q23.3	2013-05-22			ENSG00000113396	ENSG00000113396		"Acyl-CoA synthetase family", "Solute carriers"	11000	protein-coding gene	gene with protein product	"fatty-acid-Coenzyme A ligase, very long-chain 2"	604196				12556534, 10479480	Standard	XM_005271967		Approved	FATP6, VLCS-H1, FACVL2, ACSVL2	uc003kuy.3	Q9Y2P4	OTTHUMG00000128991	ENST00000262462.4:c.346C>T	5.37:g.128302176C>T	ENSP00000262462:p.Pro116Ser					SLC27A6_ENST00000395266.1_Missense_Mutation_p.P116S|SLC27A6_ENST00000506176.1_Missense_Mutation_p.P116S	p.P116S			Q9Y2P4	S27A6_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Epithelial(69;0.171)|OV - Ovarian serous cystadenocarcinoma(64;0.186)	1	1356	+		all_cancers(142;0.0483)|Prostate(80;0.055)	116					Q6IAM5|Q7Z6E6|Q86YF6	Missense_Mutation	SNP	ENST00000262462.4	37	c.346C>T	CCDS4145.1	.	.	.	.	.	.	.	.	.	.	C	25.8	4.671326	0.88348	.	.	ENSG00000113396	ENST00000262462;ENST00000395266;ENST00000506176	T;T;T	0.50548	0.74;0.74;0.74	4.18	4.18	0.49190	AMP-dependent synthetase/ligase (1);	0.000000	0.85682	D	0.000000	T	0.72145	0.3424	M	0.85099	2.735	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.78043	-0.2358	10	0.72032	D	0.01	-18.6642	17.8141	0.88625	0.0:1.0:0.0:0.0	.	116	Q9Y2P4	S27A6_HUMAN	S	116	ENSP00000262462:P116S;ENSP00000378684:P116S;ENSP00000421024:P116S	ENSP00000262462:P116S	P	+	1	0	SLC27A6	128330075	1.000000	0.71417	0.997000	0.53966	0.942000	0.58702	7.081000	0.76844	2.623000	0.88846	0.561000	0.74099	CCG		0.557	SLC27A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250980.1	NM_014031		15	15	0	0	0	1	0	15	15					T	128302176	C	T	128302176	3	4	435	1	0	0	0	0	1	0	0	0	14530	739	26	3	348	3	SLC27A6	5	128302176	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	621002	128302176	52613084	2770	23695											
ADAMTS19	171019	broad.mit.edu	37	chr5	128844825	128844825	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tattgagccactcaatgataCaatggccataacaggtcacc	14	9	7	11	0	2	2	2	2	0	0	2	2	2	2	3	2	3	0	3	2	5	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:128844825C>T	ENST00000274487.4	+	3	930	c.785C>T	c.(784-786)aCa>aTa	p.T262I	CTC-575N7.1_ENST00000503616.1_RNA	NM_133638.3	NP_598377.3	Q8TE59	ATS19_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 19	262						proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)		CTCAATGATACAATGGCCATA	0.383																																						ENST00000274487.4																			0				NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91						c.(784-786)aCa>aTa		ADAM metallopeptidase with thrombospondin type 1 motif, 19							98	91	94					5																	128844825		2203	4300	6503	SO:0001583	missense	171019				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:128844825C>T	AJ311904	CCDS4146.1	5q23.3	2009-04-27	2005-08-19		ENSG00000145808	ENSG00000145808		"ADAM metallopeptidases with thrombospondin type 1 motif"	17111	protein-coding gene	gene with protein product		607513	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 19"			11867212	Standard	NM_133638		Approved		uc003kvb.1	Q8TE59	OTTHUMG00000128990	ENST00000274487.4:c.785C>T	5.37:g.128844825C>T	ENSP00000274487:p.Thr262Ile					CTC-575N7.1_ENST00000503616.1_RNA	p.T262I	NM_133638.3	NP_598377.3	Q8TE59	ATS19_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)	3	930	+		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	262						Missense_Mutation	SNP	ENST00000274487.4	37	c.785C>T	CCDS4146.1	.	.	.	.	.	.	.	.	.	.	C	17.13	3.311669	0.60414	.	.	ENSG00000145808	ENST00000274487	T	0.06294	3.32	4.27	3.37	0.38596	Peptidase M12B, propeptide (1);	0.286793	0.29791	N	0.011190	T	0.16642	0.0400	L	0.42581	1.335	0.49130	D	0.99975	D	0.76494	0.999	D	0.73380	0.98	T	0.02326	-1.1176	9	.	.	.	.	14.9534	0.71091	0.0:0.8558:0.1442:0.0	.	262	Q8TE59	ATS19_HUMAN	I	262	ENSP00000274487:T262I	.	T	+	2	0	ADAMTS19	128872724	0.997000	0.39634	0.992000	0.48379	0.997000	0.91878	2.668000	0.46816	1.347000	0.45714	0.650000	0.86243	ACA		0.383	ADAMTS19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250979.2	NM_133638		7	55	0	0	0	1	0	7	55					T	128844825	C	T	128844825	3	4	435	1	0	0	0	0	1	0	0	0	264	478	17	3	795	3	ADAMTS19	5	128844825	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	542649	128844825	52070435	2771	23696											
FNIP1	96459	broad.mit.edu	37	chr5	131052273	131052273	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttacctatatttccaagcaGtccattaataactgtgttat	12	17	4	8	0	0	0	0	0	0	0	2	0	2	0	3	0	3	2	3	0	7	8			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:131052273G>A	ENST00000510461.1	-	6	702	c.607C>T	c.(607-609)Ctg>Ttg	p.L203L	FNIP1_ENST00000307968.7_Silent_p.L203L|CTC-432M15.3_ENST00000514667.1_Intron|FNIP1_ENST00000307954.8_Silent_p.L158L|FNIP1_ENST00000511848.1_Silent_p.L203L	NM_133372.2	NP_588613	Q8TF40	FNIP1_HUMAN	folliculin interacting protein 1	203					cellular response to starvation (GO:0009267)|immature B cell differentiation (GO:0002327)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of TOR signaling (GO:0032007)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of B cell apoptotic process (GO:0002904)|positive regulation of GTPase activity (GO:0043547)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of protein phosphorylation (GO:0001934)|regulation of pro-B cell differentiation (GO:2000973)|regulation of protein phosphorylation (GO:0001932)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)			NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34		all_cancers(142;0.00347)|Lung NSC(810;0.106)|all_lung(232;0.123)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0665)		TTTCCAAGCAGTCCATTAATA	0.308																																						ENST00000307968.7																			0				NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						c.(607-609)Ctg>Ttg		folliculin interacting protein 1							105	108	107					5																	131052273		2202	4296	6498	SO:0001819	synonymous_variant	96459							g.chr5:131052273G>A	DQ145719	CCDS34226.1, CCDS34227.1	5q23.3	2014-01-28				ENSG00000217128			29418	protein-coding gene	gene with protein product		610594				11853319, 17028174	Standard	NM_001008738		Approved	KIAA1961		Q8TF40		ENST00000510461.1:c.607C>T	5.37:g.131052273G>A						FNIP1_ENST00000510461.1_Silent_p.L203L|FNIP1_ENST00000514667.1_Intron|FNIP1_ENST00000511848.1_Silent_p.L203L|FNIP1_ENST00000307954.8_Silent_p.L158L	p.L203L	NM_001008738.2	NP_001008738.2			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0665)	6	606	-		all_cancers(142;0.00347)|Lung NSC(810;0.106)|all_lung(232;0.123)|Breast(839;0.198)						D6RJH5|Q86T47|Q9BUT0	Silent	SNP	ENST00000510461.1	37	c.607C>T	CCDS34227.1																																																																																				0.308	FNIP1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370077.1	NM_133372		6	32	0	0	0	1	0	6	32					A	131052273	G	A	131052273	2	1	435	1	0	0	0	0	0	0	0	1	5975	1020	36	3		3	FNIP1	5	131052273	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	2207448	131052273	49862987	2772	23697											
ACSL6	23305	broad.mit.edu	37	chr5	131312359	131312359	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acctctgtcactttcagaaaGcctgagaaatcagccaccac	13	8	6	14	0	4	2	3	1	1	2	4	3	4	2	4	0	2	0	4	0	2	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:131312359G>A	ENST00000379240.1	-	10	1050	c.897C>T	c.(895-897)ggC>ggT	p.G299G	ACSL6_ENST00000543479.1_Silent_p.G299G|ACSL6_ENST00000379246.1_Silent_p.G310G|ACSL6_ENST00000357096.1_Silent_p.G264G|ACSL6_ENST00000379249.3_Silent_p.G299G|ACSL6_ENST00000379255.1_Silent_p.G264G|ACSL6_ENST00000296869.4_Silent_p.G324G|ACSL6_ENST00000379272.2_Silent_p.G314G|ACSL6_ENST00000379264.2_Silent_p.G324G|ACSL6_ENST00000431707.1_Silent_p.G279G|ACSL6_ENST00000379244.1_Silent_p.G299G|ACSL6_ENST00000544770.1_Silent_p.G208G			Q9UKU0	ACSL6_HUMAN	acyl-CoA synthetase long-chain family member 6	299					acyl-CoA metabolic process (GO:0006637)|cellular lipid metabolic process (GO:0044255)|cellular response to insulin stimulus (GO:0032869)|fatty acid transport (GO:0015908)|long-chain fatty acid metabolic process (GO:0001676)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|neuroblast proliferation (GO:0007405)|neuron development (GO:0048666)|phospholipid biosynthetic process (GO:0008654)|positive regulation of neuron projection development (GO:0010976)|positive regulation of plasma membrane long-chain fatty acid transport (GO:0010747)|positive regulation of triglyceride biosynthetic process (GO:0010867)|response to gravity (GO:0009629)|response to hypoxia (GO:0001666)|response to nutrient (GO:0007584)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|nucleus (GO:0005634)|peroxisome (GO:0005777)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|long-chain fatty acid-CoA ligase activity (GO:0004467)|protein homodimerization activity (GO:0042803)			NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	35		all_cancers(142;0.107)|Breast(839;0.198)|Lung NSC(810;0.216)|all_lung(232;0.248)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CTTTCAGAAAGCCTGAGAAAT	0.418																																						ENST00000379264.2																			0				NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	35						c.(970-972)ggC>ggT		acyl-CoA synthetase long-chain family member 6							66	71	69					5																	131312359		2203	4300	6503	SO:0001819	synonymous_variant	23305				fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane|plasma membrane	ATP binding|long-chain fatty acid-CoA ligase activity	g.chr5:131312359G>A	AB020644	CCDS34228.1, CCDS34229.1, CCDS56381.1, CCDS56382.1, CCDS56383.1	5q31	2008-02-05	2004-02-19	2004-02-20	ENSG00000164398	ENSG00000164398		"Acyl-CoA synthetase family"	16496	protein-coding gene	gene with protein product		604443	"fatty-acid-Coenzyme A ligase, long-chain 6"	FACL6		10502316, 10548543	Standard	NM_015256		Approved	KIAA0837, ACS2, LACS5, LACS2	uc003kvy.2	Q9UKU0	OTTHUMG00000150692	ENST00000379240.1:c.897C>T	5.37:g.131312359G>A						ACSL6_ENST00000379246.1_Silent_p.G310G|ACSL6_ENST00000379272.2_Silent_p.G314G|ACSL6_ENST00000379244.1_Silent_p.G299G|ACSL6_ENST00000543479.1_Silent_p.G299G|ACSL6_ENST00000544770.1_Silent_p.G208G|ACSL6_ENST00000379255.1_Silent_p.G264G|ACSL6_ENST00000431707.1_Silent_p.G279G|ACSL6_ENST00000379249.3_Silent_p.G299G|ACSL6_ENST00000379240.1_Silent_p.G299G|ACSL6_ENST00000296869.4_Silent_p.G324G|ACSL6_ENST00000357096.1_Silent_p.G264G	p.G324G	NM_001009185.2	NP_001009185.1	Q9UKU0	ACSL6_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		10	1080	-		all_cancers(142;0.107)|Breast(839;0.198)|Lung NSC(810;0.216)|all_lung(232;0.248)	299					J3KPG3|O94924|O95829|Q108M9|Q108N0|Q4G191|Q86TN7	Silent	SNP	ENST00000379240.1	37	c.972C>T																																																																																					0.418	ACSL6-004	NOVEL	basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000132622.1	NM_015256		31	21	0	0	0	1	0	31	21					A	131312359	G	A	131312359	2	1	435	1	0	0	0	0	0	0	0	1	181	958	34	3		3	ACSL6	5	131312359	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	260086	131312359	49602901	2773	23698											
ACSL6	23305	broad.mit.edu	37	chr5	131323905	131323905	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgaggtttgtccacaatcaCggtgctgatgtccgctgcag	7	11	12	11	2	1	2	1	2	0	0	3	2	3	2	2	2	2	4	2	2	1	1	rs368653510		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:131323905C>T	ENST00000379240.1	-	7	745	c.592G>A	c.(592-594)Gtg>Atg	p.V198M	ACSL6_ENST00000543479.1_Missense_Mutation_p.V198M|ACSL6_ENST00000379246.1_Missense_Mutation_p.V209M|ACSL6_ENST00000357096.1_Missense_Mutation_p.V163M|ACSL6_ENST00000379249.3_Missense_Mutation_p.V198M|ACSL6_ENST00000379255.1_Missense_Mutation_p.V163M|ACSL6_ENST00000296869.4_Missense_Mutation_p.V223M|ACSL6_ENST00000379272.2_Missense_Mutation_p.V213M|ACSL6_ENST00000379264.2_Missense_Mutation_p.V223M|ACSL6_ENST00000431707.1_Missense_Mutation_p.V178M|ACSL6_ENST00000379244.1_Missense_Mutation_p.V198M|ACSL6_ENST00000544770.1_Missense_Mutation_p.V107M			Q9UKU0	ACSL6_HUMAN	acyl-CoA synthetase long-chain family member 6	198					acyl-CoA metabolic process (GO:0006637)|cellular lipid metabolic process (GO:0044255)|cellular response to insulin stimulus (GO:0032869)|fatty acid transport (GO:0015908)|long-chain fatty acid metabolic process (GO:0001676)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|neuroblast proliferation (GO:0007405)|neuron development (GO:0048666)|phospholipid biosynthetic process (GO:0008654)|positive regulation of neuron projection development (GO:0010976)|positive regulation of plasma membrane long-chain fatty acid transport (GO:0010747)|positive regulation of triglyceride biosynthetic process (GO:0010867)|response to gravity (GO:0009629)|response to hypoxia (GO:0001666)|response to nutrient (GO:0007584)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|nucleus (GO:0005634)|peroxisome (GO:0005777)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|long-chain fatty acid-CoA ligase activity (GO:0004467)|protein homodimerization activity (GO:0042803)			NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	35		all_cancers(142;0.107)|Breast(839;0.198)|Lung NSC(810;0.216)|all_lung(232;0.248)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TCCACAATCACGGTGCTGATG	0.582																																						ENST00000379264.2																			0				NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	35						c.(667-669)Gtg>Atg		acyl-CoA synthetase long-chain family member 6		C	MET/VAL,MET/VAL,MET/VAL,MET/VAL,MET/VAL,MET/VAL	0,4406		0,0,2203	222	210	214		667,562,592,625,487,667	5.6	1	5		214	2,8598	2.2+/-6.3	0,2,4298	no	missense,missense,missense,missense,missense,missense	ACSL6	NM_001009185.2,NM_001205247.1,NM_001205248.1,NM_001205250.1,NM_001205251.1,NM_015256.3	21,21,21,21,21,21	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	223/723,188/688,198/698,209/709,163/623,223/723	131323905	2,13004	2203	4300	6503	SO:0001583	missense	23305				fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane|plasma membrane	ATP binding|long-chain fatty acid-CoA ligase activity	g.chr5:131323905C>T	AB020644	CCDS34228.1, CCDS34229.1, CCDS56381.1, CCDS56382.1, CCDS56383.1	5q31	2008-02-05	2004-02-19	2004-02-20	ENSG00000164398	ENSG00000164398		"Acyl-CoA synthetase family"	16496	protein-coding gene	gene with protein product		604443	"fatty-acid-Coenzyme A ligase, long-chain 6"	FACL6		10502316, 10548543	Standard	NM_015256		Approved	KIAA0837, ACS2, LACS5, LACS2	uc003kvy.2	Q9UKU0	OTTHUMG00000150692	ENST00000379240.1:c.592G>A	5.37:g.131323905C>T	ENSP00000368542:p.Val198Met					ACSL6_ENST00000379246.1_Missense_Mutation_p.V209M|ACSL6_ENST00000379272.2_Missense_Mutation_p.V213M|ACSL6_ENST00000379244.1_Missense_Mutation_p.V198M|ACSL6_ENST00000543479.1_Missense_Mutation_p.V198M|ACSL6_ENST00000544770.1_Missense_Mutation_p.V107M|ACSL6_ENST00000379255.1_Missense_Mutation_p.V163M|ACSL6_ENST00000431707.1_Missense_Mutation_p.V178M|ACSL6_ENST00000379249.3_Missense_Mutation_p.V198M|ACSL6_ENST00000379240.1_Missense_Mutation_p.V198M|ACSL6_ENST00000296869.4_Missense_Mutation_p.V223M|ACSL6_ENST00000357096.1_Missense_Mutation_p.V163M	p.V223M	NM_001009185.2	NP_001009185.1	Q9UKU0	ACSL6_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		7	775	-		all_cancers(142;0.107)|Breast(839;0.198)|Lung NSC(810;0.216)|all_lung(232;0.248)	198					J3KPG3|O94924|O95829|Q108M9|Q108N0|Q4G191|Q86TN7	Missense_Mutation	SNP	ENST00000379240.1	37	c.667G>A		.	.	.	.	.	.	.	.	.	.	C	22.8	4.331756	0.81801	0.0	2.33E-4	ENSG00000164398	ENST00000379249;ENST00000379264;ENST00000379272;ENST00000357096;ENST00000379255;ENST00000296869;ENST00000379246;ENST00000379244;ENST00000544770;ENST00000379240;ENST00000431707;ENST00000543479;ENST00000434099;ENST00000430403	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.51325	0.71;0.71;0.71;0.71;0.71;0.71;0.71;0.71;0.71;0.71;0.71;0.71;0.71;0.71	5.62	5.62	0.85841	AMP-dependent synthetase/ligase (1);	0.000000	0.85682	D	0.000000	T	0.71736	0.3375	M	0.78344	2.41	0.80722	D	1	D;D;D;D;D;D;D	0.89917	0.999;0.999;0.988;1.0;0.998;0.999;0.999	D;P;P;D;P;D;D	0.77004	0.98;0.903;0.833;0.989;0.903;0.942;0.942	T	0.73845	-0.3854	10	0.87932	D	0	.	20.0275	0.97527	0.0:1.0:0.0:0.0	.	198;213;188;198;163;223;223	Q9UKU0-3;Q9UKU0-6;B4DFW3;Q9UKU0;Q9UKU0-7;Q9UKU0-1;Q9UKU0-8	.;.;.;ACSL6_HUMAN;.;.;.	M	198;223;213;163;163;223;209;198;107;198;178;198;163;198	ENSP00000368551:V198M;ENSP00000368566:V223M;ENSP00000368574:V213M;ENSP00000349608:V163M;ENSP00000368557:V163M;ENSP00000296869:V223M;ENSP00000368548:V209M;ENSP00000368546:V198M;ENSP00000445154:V107M;ENSP00000368542:V198M;ENSP00000413329:V178M;ENSP00000442124:V198M;ENSP00000397507:V163M;ENSP00000398423:V198M	ENSP00000296869:V223M	V	-	1	0	ACSL6	131351804	1.000000	0.71417	0.992000	0.48379	0.483000	0.33249	7.587000	0.82613	2.811000	0.96726	0.555000	0.69702	GTG		0.582	ACSL6-004	NOVEL	basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000132622.1	NM_015256		68	102	0	0	0	1	0	68	102					T	131323905	C	T	131323905	3	4	435	1	0	0	0	0	1	0	0	0	181	536	19	1	1643	1	ACSL6	5	131323905	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	11546	131323905	49591355	2774	23699											
P4HA2	8974	broad.mit.edu	37	chr5	131530664	131530664	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcaggcagcatgtcttgttcGgtagtcaccttccccgctcc	5	11	10	15	2	2	0	1	0	1	0	5	0	4	0	4	2	1	6	4	2	1	4	rs200102278		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:131530664G>A	ENST00000401867.1	-	15	2060	c.1492C>T	c.(1492-1494)Cga>Tga	p.R498*	P4HA2_ENST00000379100.2_Nonsense_Mutation_p.R496*|P4HA2_ENST00000360568.3_Nonsense_Mutation_p.R496*|P4HA2_ENST00000166534.4_Nonsense_Mutation_p.R498*|P4HA2_ENST00000379104.2_Nonsense_Mutation_p.R498*|P4HA2-AS1_ENST00000417667.1_RNA|P4HA2_ENST00000379086.1_Nonsense_Mutation_p.R496*			O15460	P4HA2_HUMAN	prolyl 4-hydroxylase, alpha polypeptide II	498	Fe2OG dioxygenase. {ECO:0000255|PROSITE- ProRule:PRU00805}.				peptidyl-proline hydroxylation to 4-hydroxy-L-proline (GO:0018401)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|procollagen-proline 4-dioxygenase complex (GO:0016222)	electron carrier activity (GO:0009055)|iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen (GO:0016702)|procollagen-proline 4-dioxygenase activity (GO:0004656)			breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24		all_cancers(142;0.103)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		L-Proline(DB00172)|Succinic acid(DB00139)	TGTCTTGTTCGGTAGTCACCT	0.537																																					Esophageal Squamous(68;117 1135 17362 19256 34242)	ENST00000401867.1																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24						c.(1492-1494)Cga>Tga		prolyl 4-hydroxylase, alpha polypeptide II	L-Proline(DB00172)|Succinic acid(DB00139)						229	183	198					5																	131530664		2203	4300	6503	SO:0001587	stop_gained	8974					endoplasmic reticulum lumen	electron carrier activity|iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 4-dioxygenase activity|protein binding	g.chr5:131530664G>A	U90441	CCDS4151.1, CCDS34230.1	5q31	2008-12-09	2008-12-09		ENSG00000072682	ENSG00000072682	1.14.11.2		8547	protein-coding gene	gene with protein product	"4-PH alpha 2", "collagen prolyl 4-hydroxylase alpha(II)"	600608	"procollagen-proline, 2-oxoglutarate 4-dioxygenase (proline 4-hydroxylase), alpha polypeptide II"			9211872, 9149945	Standard	NM_001142598		Approved	C-P4Halpha(II)	uc003kwl.3	O15460	OTTHUMG00000059647	ENST00000401867.1:c.1492C>T	5.37:g.131530664G>A	ENSP00000384999:p.Arg498*					P4HA2_ENST00000166534.4_Nonsense_Mutation_p.R498*|P4HA2_ENST00000360568.3_Nonsense_Mutation_p.R496*|P4HA2_ENST00000379100.2_Nonsense_Mutation_p.R496*|P4HA2_ENST00000379104.2_Nonsense_Mutation_p.R498*|P4HA2_ENST00000379086.1_Nonsense_Mutation_p.R496*	p.R498*			O15460	P4HA2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		15	2060	-		all_cancers(142;0.103)|Breast(839;0.198)	498			Fe2OG dioxygenase.		D3DQ85|D3DQ86|Q8WWN0	Nonsense_Mutation	SNP	ENST00000401867.1	37	c.1492C>T	CCDS4151.1	.	.	.	.	.	.	.	.	.	.	G	43	10.453514	0.99408	.	.	ENSG00000072682	ENST00000401867;ENST00000379086;ENST00000166534;ENST00000360568;ENST00000379104;ENST00000379100	.	.	.	5.96	3.0	0.34707	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-8.5362	14.9833	0.71327	0.0:0.0:0.4669:0.5331	.	.	.	.	X	498;496;498;496;498;496	.	ENSP00000166534:R498X	R	-	1	2	P4HA2	131558563	1.000000	0.71417	0.995000	0.50966	0.986000	0.74619	1.539000	0.36104	0.805000	0.34159	0.655000	0.94253	CGA		0.537	P4HA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000132653.4	NM_004199		17	25	0	0	0	1	0	17	25					A	131530664	G	A	131530664	4	1	435	1	0	0	0	0	0	1	0	0	11357	1124	39	2	123	2	P4HA2	5	131530664	Nonsense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	206759	131530664	49384596	2775	23700											
P4HA2	8974	broad.mit.edu	37	chr5	131543528	131543528	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caatgagcagctgtggggccCtgttgccatggtggtaccta	7	10	14	10	0	0	1	0	1	0	0	0	1	0	1	3	4	4	4	3	4	3	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:131543528C>A	ENST00000401867.1	-	9	1521	c.953G>T	c.(952-954)aGg>aTg	p.R318M	P4HA2_ENST00000379100.2_Missense_Mutation_p.R318M|P4HA2_ENST00000360568.3_Missense_Mutation_p.R318M|P4HA2_ENST00000166534.4_Missense_Mutation_p.R318M|P4HA2_ENST00000379104.2_Missense_Mutation_p.R318M|P4HA2_ENST00000379086.1_Missense_Mutation_p.R318M			O15460	P4HA2_HUMAN	prolyl 4-hydroxylase, alpha polypeptide II	318					peptidyl-proline hydroxylation to 4-hydroxy-L-proline (GO:0018401)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|procollagen-proline 4-dioxygenase complex (GO:0016222)	electron carrier activity (GO:0009055)|iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen (GO:0016702)|procollagen-proline 4-dioxygenase activity (GO:0004656)			breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24		all_cancers(142;0.103)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		L-Proline(DB00172)|Succinic acid(DB00139)	CTGTGGGGCCCTGTTGCCATG	0.552																																					Esophageal Squamous(68;117 1135 17362 19256 34242)	ENST00000401867.1																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24						c.(952-954)aGg>aTg		prolyl 4-hydroxylase, alpha polypeptide II	L-Proline(DB00172)|Succinic acid(DB00139)						185	180	182					5																	131543528		2203	4300	6503	SO:0001583	missense	8974					endoplasmic reticulum lumen	electron carrier activity|iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 4-dioxygenase activity|protein binding	g.chr5:131543528C>A	U90441	CCDS4151.1, CCDS34230.1	5q31	2008-12-09	2008-12-09		ENSG00000072682	ENSG00000072682	1.14.11.2		8547	protein-coding gene	gene with protein product	"4-PH alpha 2", "collagen prolyl 4-hydroxylase alpha(II)"	600608	"procollagen-proline, 2-oxoglutarate 4-dioxygenase (proline 4-hydroxylase), alpha polypeptide II"			9211872, 9149945	Standard	NM_001142598		Approved	C-P4Halpha(II)	uc003kwl.3	O15460	OTTHUMG00000059647	ENST00000401867.1:c.953G>T	5.37:g.131543528C>A	ENSP00000384999:p.Arg318Met					P4HA2_ENST00000166534.4_Missense_Mutation_p.R318M|P4HA2_ENST00000360568.3_Missense_Mutation_p.R318M|P4HA2_ENST00000379100.2_Missense_Mutation_p.R318M|P4HA2_ENST00000379104.2_Missense_Mutation_p.R318M|P4HA2_ENST00000379086.1_Missense_Mutation_p.R318M	p.R318M			O15460	P4HA2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		9	1521	-		all_cancers(142;0.103)|Breast(839;0.198)	318					D3DQ85|D3DQ86|Q8WWN0	Missense_Mutation	SNP	ENST00000401867.1	37	c.953G>T	CCDS4151.1	.	.	.	.	.	.	.	.	.	.	C	24.3	4.514564	0.85389	.	.	ENSG00000072682	ENST00000401867;ENST00000379086;ENST00000166534;ENST00000360568;ENST00000379104;ENST00000379100	T;T;T;T;T;T	0.46819	0.86;0.86;0.86;0.86;0.86;0.86	5.87	4.99	0.66335	.	0.164638	0.64402	D	0.000003	T	0.59810	0.2221	M	0.64997	1.995	0.58432	D	0.999998	P;P	0.48162	0.724;0.906	P;P	0.56216	0.627;0.794	T	0.61352	-0.7080	10	0.87932	D	0	-15.9193	13.331	0.60488	0.0:0.8764:0.0:0.1236	.	318;318	O15460;O15460-2	P4HA2_HUMAN;.	M	318	ENSP00000384999:R318M;ENSP00000368379:R318M;ENSP00000166534:R318M;ENSP00000353772:R318M;ENSP00000368398:R318M;ENSP00000368394:R318M	ENSP00000166534:R318M	R	-	2	0	P4HA2	131571427	0.258000	0.24033	0.583000	0.28640	0.909000	0.53808	4.011000	0.57124	2.941000	0.99782	0.655000	0.94253	AGG		0.552	P4HA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000132653.4	NM_004199		52	118	1	0	2.44813e-32	1	2.74628e-32	52	118					A	131543528	C	A	131543528	3	1	435	1	0	0	0	0	1	0	0	0	11357	681	24	5	750	5	P4HA2	5	131543528	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	12864	131543528	49371732	2776	23701											
SLC22A5	6584	broad.mit.edu	37	chr5	131714145	131714145	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgtgggtgtgctgttgggcTccttcatttcagggcagctg	3	14	15	9	1	2	0	2	0	0	0	4	0	3	0	1	3	2	5	1	3	0	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:131714145T>C	ENST00000245407.3	+	2	690	c.469T>C	c.(469-471)Tcc>Ccc	p.S157P	SLC22A5_ENST00000435065.2_Missense_Mutation_p.S181P	NM_003060.3	NP_003051.1	O76082	S22A5_HUMAN	solute carrier family 22 (organic cation/carnitine transporter), member 5	157					carnitine transmembrane transport (GO:1902603)|carnitine transport (GO:0015879)|drug transmembrane transport (GO:0006855)|drug transport (GO:0015893)|positive regulation of intestinal epithelial structure maintenance (GO:0060731)|quaternary ammonium group transport (GO:0015697)|quorum sensing involved in interaction with host (GO:0052106)|sodium ion transport (GO:0006814)|sodium-dependent organic cation transport (GO:0070715)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	antibiotic transporter activity (GO:0042895)|ATP binding (GO:0005524)|carnitine transmembrane transporter activity (GO:0015226)|drug transmembrane transporter activity (GO:0015238)|PDZ domain binding (GO:0030165)|quaternary ammonium group transmembrane transporter activity (GO:0015651)|symporter activity (GO:0015293)			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|stomach(1)	8		all_cancers(142;0.0751)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		Acetylcarnitine(DB08842)|Aminohippurate(DB00345)|Amphetamine(DB00182)|Ampicillin(DB00415)|Azidocillin(DB08795)|Benzylpenicillin(DB01053)|Cefadroxil(DB01140)|Cefalotin(DB00456)|Cefdinir(DB00535)|Cefepime(DB01413)|Cefixime(DB00671)|Cefradine(DB01333)|Ceftazidime(DB00438)|Cephalexin(DB00567)|Cephaloglycin(DB00689)|Choline(DB00122)|Cimetidine(DB00501)|Clonidine(DB00575)|Creatine(DB00148)|Cyclacillin(DB01000)|Dactinomycin(DB00970)|Desipramine(DB01151)|Diphenhydramine(DB01075)|Dopamine(DB00988)|Epinephrine(DB00668)|Furosemide(DB00695)|Guanidine(DB00536)|Histamine Phosphate(DB00667)|Ipratropium bromide(DB00332)|L-Arginine(DB00125)|L-Carnitine(DB00583)|Lidocaine(DB00281)|Lomefloxacin(DB00978)|Mepyramine(DB06691)|Methamphetamine(DB01577)|Niacin(DB00627)|Nicotine(DB00184)|Norepinephrine(DB00368)|Norfloxacin(DB01059)|Ofloxacin(DB01165)|Probenecid(DB01032)|Procainamide(DB01035)|Quinidine(DB00908)|Quinine(DB00468)|Sparfloxacin(DB01208)|Thiamine(DB00152)|Tiotropium(DB01409)|Valproic Acid(DB00313)|Verapamil(DB00661)	GCTGTTGGGCTCCTTCATTTC	0.557																																						ENST00000245407.3																			0				NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|stomach(1)	8						c.(469-471)Tcc>Ccc		solute carrier family 22 (organic cation/carnitine transporter), member 5	L-Carnitine(DB00583)						248	239	242					5																	131714145		2203	4300	6503	SO:0001583	missense	6584				positive regulation of intestinal epithelial structure maintenance|quorum sensing involved in interaction with host|sodium ion transport|sodium-dependent organic cation transport	apical plasma membrane|brush border membrane|integral to membrane	ATP binding|carnitine transporter activity|PDZ domain binding|symporter activity	g.chr5:131714145T>C	AF057164	CCDS4154.1	5q23.3	2013-05-22	2008-01-11		ENSG00000197375	ENSG00000197375		"Solute carriers"	10969	protein-coding gene	gene with protein product		603377		CDSP		9618255, 9916797, 9685390	Standard	NM_003060		Approved	OCTN2, SCD	uc003kww.4	O76082	OTTHUMG00000059634	ENST00000245407.3:c.469T>C	5.37:g.131714145T>C	ENSP00000245407:p.Ser157Pro					SLC22A5_ENST00000435065.2_Missense_Mutation_p.S181P	p.S157P	NM_003060.3	NP_003051.1	O76082	S22A5_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		2	690	+		all_cancers(142;0.0751)|Breast(839;0.198)	157					A2Q0V1|B2R844|D3DQ87|Q6ZQZ8|Q96EH6	Missense_Mutation	SNP	ENST00000245407.3	37	c.469T>C	CCDS4154.1	.	.	.	.	.	.	.	.	.	.	T	18.32	3.597253	0.66332	.	.	ENSG00000197375	ENST00000245407;ENST00000435065;ENST00000415928	T;T;T	0.79454	-1.27;-1.27;-1.27	5.53	5.53	0.82687	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	D	0.90652	0.7068	M	0.92367	3.3	0.47949	D	0.999552	D;D	0.89917	0.986;1.0	P;D	0.81914	0.887;0.995	D	0.92886	0.6327	10	0.87932	D	0	.	15.9452	0.79787	0.0:0.0:0.0:1.0	.	181;157	A2Q0V1;O76082	.;S22A5_HUMAN	P	157;181;80	ENSP00000245407:S157P;ENSP00000402760:S181P;ENSP00000388838:S80P	ENSP00000245407:S157P	S	+	1	0	SLC22A5	131742044	0.938000	0.31826	1.000000	0.80357	0.676000	0.39594	1.639000	0.37176	2.223000	0.72356	0.459000	0.35465	TCC		0.557	SLC22A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132631.1	NM_003060		61	96	0	0	0	1	0	61	96					C	131714145	T	C	131714145	3	2	435	1	0	0	0	0	1	0	0	0	14457	1551	54	4	475	4	SLC22A5	5	131714145	Missense_Mutation	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	170617	131714145	49201115	2777	23702											
SLC22A5	6584	broad.mit.edu	37	chr5	131724688	131724688	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gaacctggaatatccggatgGtcaccatcatgtccataatg	12	10	9	10	1	2	0	2	0	0	0	4	3	4	2	4	3	1	0	4	3	4	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:131724688G>A	ENST00000245407.3	+	6	1248	c.1027G>A	c.(1027-1029)Gtc>Atc	p.V343I	SLC22A5_ENST00000479605.1_3'UTR|SLC22A5_ENST00000435065.2_Missense_Mutation_p.V367I	NM_003060.3	NP_003051.1	O76082	S22A5_HUMAN	solute carrier family 22 (organic cation/carnitine transporter), member 5	343					carnitine transmembrane transport (GO:1902603)|carnitine transport (GO:0015879)|drug transmembrane transport (GO:0006855)|drug transport (GO:0015893)|positive regulation of intestinal epithelial structure maintenance (GO:0060731)|quaternary ammonium group transport (GO:0015697)|quorum sensing involved in interaction with host (GO:0052106)|sodium ion transport (GO:0006814)|sodium-dependent organic cation transport (GO:0070715)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	antibiotic transporter activity (GO:0042895)|ATP binding (GO:0005524)|carnitine transmembrane transporter activity (GO:0015226)|drug transmembrane transporter activity (GO:0015238)|PDZ domain binding (GO:0030165)|quaternary ammonium group transmembrane transporter activity (GO:0015651)|symporter activity (GO:0015293)			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|stomach(1)	8		all_cancers(142;0.0751)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		Acetylcarnitine(DB08842)|Aminohippurate(DB00345)|Amphetamine(DB00182)|Ampicillin(DB00415)|Azidocillin(DB08795)|Benzylpenicillin(DB01053)|Cefadroxil(DB01140)|Cefalotin(DB00456)|Cefdinir(DB00535)|Cefepime(DB01413)|Cefixime(DB00671)|Cefradine(DB01333)|Ceftazidime(DB00438)|Cephalexin(DB00567)|Cephaloglycin(DB00689)|Choline(DB00122)|Cimetidine(DB00501)|Clonidine(DB00575)|Creatine(DB00148)|Cyclacillin(DB01000)|Dactinomycin(DB00970)|Desipramine(DB01151)|Diphenhydramine(DB01075)|Dopamine(DB00988)|Epinephrine(DB00668)|Furosemide(DB00695)|Guanidine(DB00536)|Histamine Phosphate(DB00667)|Ipratropium bromide(DB00332)|L-Arginine(DB00125)|L-Carnitine(DB00583)|Lidocaine(DB00281)|Lomefloxacin(DB00978)|Mepyramine(DB06691)|Methamphetamine(DB01577)|Niacin(DB00627)|Nicotine(DB00184)|Norepinephrine(DB00368)|Norfloxacin(DB01059)|Ofloxacin(DB01165)|Probenecid(DB01032)|Procainamide(DB01035)|Quinidine(DB00908)|Quinine(DB00468)|Sparfloxacin(DB01208)|Thiamine(DB00152)|Tiotropium(DB01409)|Valproic Acid(DB00313)|Verapamil(DB00661)	TATCCGGATGGTCACCATCAT	0.463											OREG0003454	type=REGULATORY REGION|Gene=SLC22A5|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																										ENST00000245407.3																			0				NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|stomach(1)	8						c.(1027-1029)Gtc>Atc		solute carrier family 22 (organic cation/carnitine transporter), member 5	L-Carnitine(DB00583)						105	86	92					5																	131724688		2203	4300	6503	SO:0001583	missense	6584				positive regulation of intestinal epithelial structure maintenance|quorum sensing involved in interaction with host|sodium ion transport|sodium-dependent organic cation transport	apical plasma membrane|brush border membrane|integral to membrane	ATP binding|carnitine transporter activity|PDZ domain binding|symporter activity	g.chr5:131724688G>A	AF057164	CCDS4154.1	5q23.3	2013-05-22	2008-01-11		ENSG00000197375	ENSG00000197375		"Solute carriers"	10969	protein-coding gene	gene with protein product		603377		CDSP		9618255, 9916797, 9685390	Standard	NM_003060		Approved	OCTN2, SCD	uc003kww.4	O76082	OTTHUMG00000059634	ENST00000245407.3:c.1027G>A	5.37:g.131724688G>A	ENSP00000245407:p.Val343Ile		OREG0003454	type=REGULATORY REGION|Gene=SLC22A5|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	1589	SLC22A5_ENST00000435065.2_Missense_Mutation_p.V367I|SLC22A5_ENST00000479605.1_3'UTR	p.V343I	NM_003060.3	NP_003051.1	O76082	S22A5_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		6	1248	+		all_cancers(142;0.0751)|Breast(839;0.198)	343					A2Q0V1|B2R844|D3DQ87|Q6ZQZ8|Q96EH6	Missense_Mutation	SNP	ENST00000245407.3	37	c.1027G>A	CCDS4154.1	.	.	.	.	.	.	.	.	.	.	G	4.744	0.138426	0.09083	.	.	ENSG00000197375	ENST00000245407;ENST00000435065	T;T	0.58060	0.36;0.36	5.85	0.263	0.15602	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.241918	0.47455	N	0.000222	T	0.13200	0.0320	N	0.00368	-1.59	0.18873	N	0.999989	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.33727	-0.9857	10	0.14656	T	0.56	.	5.2318	0.15426	0.5302:0.1532:0.3166:0.0	.	367;343	A2Q0V1;O76082	.;S22A5_HUMAN	I	343;367	ENSP00000245407:V343I;ENSP00000402760:V367I	ENSP00000245407:V343I	V	+	1	0	SLC22A5	131752587	0.180000	0.23148	0.267000	0.24556	0.900000	0.52787	0.633000	0.24598	0.204000	0.20548	0.655000	0.94253	GTC		0.463	SLC22A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132631.1	NM_003060		14	28	0	0	0	1	0	14	28					A	131724688	G	A	131724688	3	1	435	1	0	0	0	0	1	0	0	0	14457	1261	44	3	1049	3	SLC22A5	5	131724688	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	10543	131724688	49190572	2778	23703											
SLC22A5	6584	broad.mit.edu	37	chr5	131729951	131729951	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaggcccacaatccttaaaaGcacagccttctaacatcgct	14	8	5	14	1	1	0	0	0	1	0	3	0	2	0	3	1	3	2	3	1	5	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:131729951G>A	ENST00000245407.3	+	10	1882	c.1661G>A	c.(1660-1662)aGc>aAc	p.S554N	SLC22A5_ENST00000435065.2_Missense_Mutation_p.S578N	NM_003060.3	NP_003051.1	O76082	S22A5_HUMAN	solute carrier family 22 (organic cation/carnitine transporter), member 5	554					carnitine transmembrane transport (GO:1902603)|carnitine transport (GO:0015879)|drug transmembrane transport (GO:0006855)|drug transport (GO:0015893)|positive regulation of intestinal epithelial structure maintenance (GO:0060731)|quaternary ammonium group transport (GO:0015697)|quorum sensing involved in interaction with host (GO:0052106)|sodium ion transport (GO:0006814)|sodium-dependent organic cation transport (GO:0070715)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	antibiotic transporter activity (GO:0042895)|ATP binding (GO:0005524)|carnitine transmembrane transporter activity (GO:0015226)|drug transmembrane transporter activity (GO:0015238)|PDZ domain binding (GO:0030165)|quaternary ammonium group transmembrane transporter activity (GO:0015651)|symporter activity (GO:0015293)			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|stomach(1)	8		all_cancers(142;0.0751)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		Acetylcarnitine(DB08842)|Aminohippurate(DB00345)|Amphetamine(DB00182)|Ampicillin(DB00415)|Azidocillin(DB08795)|Benzylpenicillin(DB01053)|Cefadroxil(DB01140)|Cefalotin(DB00456)|Cefdinir(DB00535)|Cefepime(DB01413)|Cefixime(DB00671)|Cefradine(DB01333)|Ceftazidime(DB00438)|Cephalexin(DB00567)|Cephaloglycin(DB00689)|Choline(DB00122)|Cimetidine(DB00501)|Clonidine(DB00575)|Creatine(DB00148)|Cyclacillin(DB01000)|Dactinomycin(DB00970)|Desipramine(DB01151)|Diphenhydramine(DB01075)|Dopamine(DB00988)|Epinephrine(DB00668)|Furosemide(DB00695)|Guanidine(DB00536)|Histamine Phosphate(DB00667)|Ipratropium bromide(DB00332)|L-Arginine(DB00125)|L-Carnitine(DB00583)|Lidocaine(DB00281)|Lomefloxacin(DB00978)|Mepyramine(DB06691)|Methamphetamine(DB01577)|Niacin(DB00627)|Nicotine(DB00184)|Norepinephrine(DB00368)|Norfloxacin(DB01059)|Ofloxacin(DB01165)|Probenecid(DB01032)|Procainamide(DB01035)|Quinidine(DB00908)|Quinine(DB00468)|Sparfloxacin(DB01208)|Thiamine(DB00152)|Tiotropium(DB01409)|Valproic Acid(DB00313)|Verapamil(DB00661)	ATCCTTAAAAGCACAGCCTTC	0.418																																						ENST00000245407.3																			0				NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|stomach(1)	8						c.(1660-1662)aGc>aAc		solute carrier family 22 (organic cation/carnitine transporter), member 5	L-Carnitine(DB00583)						120	113	116					5																	131729951		2203	4300	6503	SO:0001583	missense	6584				positive regulation of intestinal epithelial structure maintenance|quorum sensing involved in interaction with host|sodium ion transport|sodium-dependent organic cation transport	apical plasma membrane|brush border membrane|integral to membrane	ATP binding|carnitine transporter activity|PDZ domain binding|symporter activity	g.chr5:131729951G>A	AF057164	CCDS4154.1	5q23.3	2013-05-22	2008-01-11		ENSG00000197375	ENSG00000197375		"Solute carriers"	10969	protein-coding gene	gene with protein product		603377		CDSP		9618255, 9916797, 9685390	Standard	NM_003060		Approved	OCTN2, SCD	uc003kww.4	O76082	OTTHUMG00000059634	ENST00000245407.3:c.1661G>A	5.37:g.131729951G>A	ENSP00000245407:p.Ser554Asn					SLC22A5_ENST00000435065.2_Missense_Mutation_p.S578N	p.S554N	NM_003060.3	NP_003051.1	O76082	S22A5_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		10	1882	+		all_cancers(142;0.0751)|Breast(839;0.198)	554					A2Q0V1|B2R844|D3DQ87|Q6ZQZ8|Q96EH6	Missense_Mutation	SNP	ENST00000245407.3	37	c.1661G>A	CCDS4154.1	.	.	.	.	.	.	.	.	.	.	G	10.43	1.347357	0.24426	.	.	ENSG00000197375	ENST00000245407;ENST00000435065	T;T	0.74315	-0.79;-0.83	5.28	2.33	0.28932	.	0.585602	0.18979	N	0.125935	T	0.57286	0.2043	N	0.24115	0.695	0.29659	N	0.84334	B;B	0.09022	0.002;0.001	B;B	0.09377	0.004;0.002	T	0.51371	-0.8714	10	0.33141	T	0.24	.	9.2249	0.37400	0.0834:0.2917:0.6248:0.0	.	578;554	A2Q0V1;O76082	.;S22A5_HUMAN	N	554;578	ENSP00000245407:S554N;ENSP00000402760:S578N	ENSP00000245407:S554N	S	+	2	0	SLC22A5	131757850	1.000000	0.71417	1.000000	0.80357	0.599000	0.36880	1.233000	0.32648	0.764000	0.33197	0.655000	0.94253	AGC		0.418	SLC22A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132631.1	NM_003060		35	33	0	0	0	1	0	35	33					A	131729951	G	A	131729951	3	1	435	1	0	0	0	0	1	0	0	0	14457	971	34	3	1699	3	SLC22A5	5	131729951	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	5263	131729951	49185309	2779	23704											
RAD50	10111	broad.mit.edu	37	chr5	131927067	131927067	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaaccatcatacaacaacacGtacccaaatggagatgctga	18	6	6	11	1	1	2	1	1	0	1	1	3	1	2	2	1	6	2	2	1	6	2	rs200548021		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:131927067G>A	ENST00000265335.6	+	10	1991	c.1604G>A	c.(1603-1605)cGt>cAt	p.R535H	RAD50_ENST00000378823.3_Missense_Mutation_p.R396H			Q92878	RAD50_HUMAN	RAD50 homolog (S. cerevisiae)	535					cellular response to DNA damage stimulus (GO:0006974)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|positive regulation of kinase activity (GO:0033674)|positive regulation of protein autophosphorylation (GO:0031954)|reciprocal meiotic recombination (GO:0007131)|regulation of mitotic recombination (GO:0000019)|telomere maintenance (GO:0000723)|telomere maintenance via telomerase (GO:0007004)	membrane (GO:0016020)|Mre11 complex (GO:0030870)|nuclear chromosome, telomeric region (GO:0000784)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|pronucleus (GO:0045120)|site of double-strand break (GO:0035861)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|nuclease activity (GO:0004518)|protein binding, bridging (GO:0030674)|zinc ion binding (GO:0008270)			breast(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36		all_cancers(142;0.0368)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			ACAACAACACGTACCCAAATG	0.378								Homologous recombination																														ENST00000378823.3																			0				breast(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						c.(1186-1188)cGt>cAt	Homologous recombination	RAD50 homolog (S. cerevisiae)		G	HIS/ARG	0,4406		0,0,2203	111	99	103		1604	5.7	1	5		103	1,8599	1.2+/-3.3	0,1,4299	yes	missense	RAD50	NM_005732.3	29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	535/1313	131927067	1,13005	2203	4300	6503	SO:0001583	missense	10111				DNA duplex unwinding|double-strand break repair via homologous recombination|positive regulation of kinase activity|positive regulation of protein autophosphorylation|reciprocal meiotic recombination|regulation of mitotic recombination|telomere maintenance via telomerase	Mre11 complex|nuclear chromosome, telomeric region|nucleoplasm	ATP binding|DNA binding|nuclease activity|protein binding, bridging|zinc ion binding	g.chr5:131927067G>A	Z75311	CCDS34233.1	5q23-q31	2008-05-30	2001-11-28		ENSG00000113522	ENSG00000113522			9816	protein-coding gene	gene with protein product		604040	"RAD50 (S. cerevisiae) homolog"			8756642, 9705271	Standard	NM_005732		Approved	hRad50, RAD50-2	uc003kxi.3	Q92878	OTTHUMG00000059613	ENST00000265335.6:c.1604G>A	5.37:g.131927067G>A	ENSP00000265335:p.Arg535His					RAD50_ENST00000265335.6_Missense_Mutation_p.R535H	p.R396H	NM_005732.3	NP_005723.2	Q92878	RAD50_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		10	2005	+		all_cancers(142;0.0368)|Breast(839;0.198)	535					B9EGF5|O43254|Q6GMT7|Q6P5X3|Q9UP86	Missense_Mutation	SNP	ENST00000265335.6	37	c.1187G>A	CCDS34233.1	.	.	.	.	.	.	.	.	.	.	G	24.6	4.548997	0.86127	0.0	1.16E-4	ENSG00000113522	ENST00000378823;ENST00000265335	T;T	0.06687	3.27;3.51	5.7	5.7	0.88788	.	0.056797	0.64402	D	0.000001	T	0.22360	0.0539	M	0.62723	1.935	0.53005	D	0.999965	D	0.89917	1.0	P	0.58873	0.847	T	0.00041	-1.2234	10	0.59425	D	0.04	-6.8286	14.5472	0.68041	0.0:0.0:0.8186:0.1813	.	535	Q92878	RAD50_HUMAN	H	396;535	ENSP00000368100:R396H;ENSP00000265335:R535H	ENSP00000265335:R535H	R	+	2	0	RAD50	131954966	1.000000	0.71417	0.972000	0.41901	0.989000	0.77384	5.825000	0.69286	2.683000	0.91414	0.655000	0.94253	CGT		0.378	RAD50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132566.5	NM_005732		5	32	0	0	0	1	0	5	32					A	131927067	G	A	131927067	3	1	435	1	0	0	0	0	1	0	0	0	12984	1145	40	1	1642	1	RAD50	5	131927067	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	197116	131927067	48988193	2780	23705											
KIF3A	11127	broad.mit.edu	37	chr5	132056317	132056317	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttacgatttttgtggcctagCgtcataattctatccatatc	9	17	6	9	2	2	0	1	0	1	0	4	1	3	0	2	1	2	0	2	1	5	8			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:132056317C>T	ENST00000378746.4	-	5	818	c.600G>A	c.(598-600)acG>acA	p.T200T	AC004237.1_ENST00000431165.1_RNA|KIF3A_ENST00000378735.1_Silent_p.T200T|KIF3A_ENST00000403231.1_Silent_p.T200T	NM_007054.5	NP_008985.3	Q9Y496	KIF3A_HUMAN	kinesin family member 3A	200	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				anterior/posterior pattern specification (GO:0009952)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|determination of left/right symmetry (GO:0007368)|dorsal/ventral neural tube patterning (GO:0021904)|epidermal stem cell homeostasis (GO:0036334)|epidermis development (GO:0008544)|heart development (GO:0007507)|in utero embryonic development (GO:0001701)|inner ear receptor stereocilium organization (GO:0060122)|kidney development (GO:0001822)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|neurogenesis (GO:0022008)|organelle organization (GO:0006996)|plus-end-directed vesicle transport along microtubule (GO:0072383)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of receptor-mediated endocytosis (GO:0048260)|smoothened signaling pathway (GO:0007224)	centrosome (GO:0005813)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intraciliary transport particle (GO:0030990)|kinesin II complex (GO:0016939)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|neuron projection (GO:0043005)|photoreceptor connecting cilium (GO:0032391)|primary cilium (GO:0072372)|synaptic vesicle (GO:0008021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)|spectrin binding (GO:0030507)			endometrium(1)|kidney(4)|large_intestine(8)|lung(3)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	25		all_cancers(142;0.0751)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TGTGGCCTAGCGTCATAATTC	0.343																																						ENST00000378746.4																			0				endometrium(1)|kidney(4)|large_intestine(8)|lung(3)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	25						c.(598-600)acG>acA		kinesin family member 3A							140	125	130					5																	132056317		2202	4300	6502	SO:0001819	synonymous_variant	11127				blood coagulation|organelle organization|plus-end-directed vesicle transport along microtubule	centrosome|cytosol|kinesin II complex|spindle microtubule	ATP binding|plus-end-directed microtubule motor activity|protein binding	g.chr5:132056317C>T	AF041853	CCDS34235.1, CCDS75295.1, CCDS75296.1	5q31	2012-08-01			ENSG00000131437	ENSG00000131437		"Kinesins"	6319	protein-coding gene	gene with protein product	"kinesin family protein 3A"	604683				1054846	Standard	XM_005271868		Approved	FLA10, KLP-20	uc003kxo.3	Q9Y496	OTTHUMG00000059725	ENST00000378746.4:c.600G>A	5.37:g.132056317C>T						KIF3A_ENST00000378735.1_Silent_p.T200T|KIF3A_ENST00000403231.1_Silent_p.T200T|AC004237.1_ENST00000431165.1_RNA	p.T200T	NM_007054.5	NP_008985.3	Q9Y496	KIF3A_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		5	818	-		all_cancers(142;0.0751)|Breast(839;0.198)	200			Kinesin-motor.		A8MSW9|Q59EN1|Q86XE9|Q9Y6V4	Silent	SNP	ENST00000378746.4	37	c.600G>A	CCDS34235.1																																																																																				0.343	KIF3A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000132788.3	NM_007054		24	47	0	0	0	1	0	24	47					T	132056317	C	T	132056317	2	4	435	1	0	0	0	0	0	0	0	1	8300	755	27	1		1	KIF3A	5	132056317	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	129250	132056317	48858943	2781	23706											
SEPT8	23176	broad.mit.edu	37	chr5	132099517	132099517	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtagtcgaagagcgagcggcGgatcttcagctcctcctgca	8	8	13	12	4	2	1	1	0	1	1	5	4	4	2	2	2	4	3	2	2	2	2	rs371690570		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:132099517G>A	ENST00000378719.2	-	4	652	c.415C>T	c.(415-417)Cgc>Tgc	p.R139C	SEPT8_ENST00000378699.2_Missense_Mutation_p.R79C|SEPT8_ENST00000448933.1_Missense_Mutation_p.R79C|SEPT8_ENST00000458488.2_Missense_Mutation_p.R139C|SEPT8_ENST00000378701.1_Missense_Mutation_p.R137C|SEPT8_ENST00000481030.1_5'Flank|SEPT8_ENST00000296873.7_Missense_Mutation_p.R139C|SEPT8_ENST00000378706.1_Missense_Mutation_p.R139C|SEPT8_ENST00000378721.4_Missense_Mutation_p.R137C	NM_001098811.1	NP_001092281.1	Q92599	SEPT8_HUMAN	septin 8	139	Septin-type G.				cell cycle (GO:0007049)	septin complex (GO:0031105)	GTP binding (GO:0005525)		SEPT8/AFF4(2)	kidney(2)|lung(5)|ovary(2)|skin(1)|urinary_tract(1)	11		all_cancers(142;0.0751)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			AGCGAGCGGCGGATCTTCAGC	0.522											OREG0003468	type=REGULATORY REGION|Gene=LOC540614|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																										ENST00000296873.7																		SEPT8/AFF4(2)	0				kidney(2)|lung(5)|ovary(2)|skin(1)|urinary_tract(1)	11						c.(415-417)Cgc>Tgc		septin 8		G	CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG	0,3976		0,0,1988	152	154	153		415,415,235,415	3.1	1	5		153	1,8349		0,1,4174	no	missense,missense,missense,missense	SEPT8	NM_001098811.1,NM_001098812.1,NM_001098813.1,NM_015146.1	180,180,180,180	0,1,6162	AA,AG,GG		0.012,0.0,0.0081	benign,benign,benign,benign	139/484,139/443,79/370,139/430	132099517	1,12325	1988	4175	6163	SO:0001583	missense	23176				cell cycle	septin complex	GTP binding|protein binding	g.chr5:132099517G>A	AF179995	CCDS43358.1, CCDS43359.1, CCDS43360.1, CCDS47262.1, CCDS75298.1	5q31	2013-01-21			ENSG00000164402	ENSG00000164402		"Septins"	16511	protein-coding gene	gene with protein product		608418				9039502, 9149945	Standard	NM_001098812		Approved	KIAA0202, SEP2	uc003kxr.2	Q92599	OTTHUMG00000059735	ENST00000378719.2:c.415C>T	5.37:g.132099517G>A	ENSP00000367991:p.Arg139Cys		OREG0003468	type=REGULATORY REGION|Gene=LOC540614|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	1592	SEPT8_ENST00000378699.2_Missense_Mutation_p.R79C|SEPT8_ENST00000378706.1_Missense_Mutation_p.R139C|SEPT8_ENST00000378701.1_Missense_Mutation_p.R137C|SEPT8_ENST00000378719.2_Missense_Mutation_p.R139C|SEPT8_ENST00000378721.4_Missense_Mutation_p.R137C|SEPT8_ENST00000448933.1_Missense_Mutation_p.R79C|SEPT8_ENST00000458488.2_Missense_Mutation_p.R139C	p.R139C	NM_001098812.1|NM_015146.1	NP_001092282.1|NP_055961.1	Q92599	SEPT8_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		4	698	-		all_cancers(142;0.0751)|Breast(839;0.198)	139					A6NC65|A6NKP6|F6W7K9|Q8IX36|Q8IX37|Q9BVB3	Missense_Mutation	SNP	ENST00000378719.2	37	c.415C>T	CCDS43358.1	.	.	.	.	.	.	.	.	.	.	G	16.98	3.272405	0.59649	0.0	1.2E-4	ENSG00000164402	ENST00000378719;ENST00000378721;ENST00000296873;ENST00000448933;ENST00000378706;ENST00000378699;ENST00000378701;ENST00000458488;ENST00000453480;ENST00000414594	T;T;T;T;T;T;T;T;T;T	0.52983	0.64;0.64;0.64;0.64;0.64;0.64;0.64;0.64;0.64;0.64	4.92	3.09	0.35607	.	0.126846	0.52532	D	0.000066	T	0.43875	0.1267	L	0.56124	1.755	0.52501	D	0.999956	B;B;B;B	0.20459	0.015;0.015;0.009;0.045	B;B;B;B	0.19946	0.007;0.004;0.027;0.007	T	0.38373	-0.9664	10	0.66056	D	0.02	.	12.672	0.56872	0.0:0.0:0.5658:0.4342	.	137;137;139;139	B7ZVZ1;A6NFQ9;F6W7K9;Q92599	.;.;.;SEPT8_HUMAN	C	139;137;139;79;139;79;137;139;77;79	ENSP00000367991:R139C;ENSP00000367993:R137C;ENSP00000296873:R139C;ENSP00000399840:R79C;ENSP00000367978:R139C;ENSP00000367971:R79C;ENSP00000367973:R137C;ENSP00000394766:R139C;ENSP00000407421:R77C;ENSP00000411823:R79C	ENSP00000296873:R139C	R	-	1	0	SEPT8	132127416	1.000000	0.71417	0.987000	0.45799	0.971000	0.66376	4.109000	0.57824	0.451000	0.26802	0.467000	0.42956	CGC		0.522	SEPT8-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000132827.2	XM_034872		48	67	0	0	0	1	0	48	67					A	132099517	G	A	132099517	3	1	435	1	0	0	0	0	1	0	0	0	14070	1116	39	2	1119	2	SEPT8	5	132099517	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	43200	132099517	48815743	2782	23707											
ANKRD43	134548	broad.mit.edu	37	chr5	132150756	132150756	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accaccagtgcatttctgggCgtcctggctgacgacctcat	7	10	10	14	2	2	1	1	1	1	0	3	2	3	1	4	2	1	2	4	2	0	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:132150756C>T	ENST00000378693.2	+	1	1724	c.1443C>T	c.(1441-1443)ggC>ggT	p.G481G	AC004775.5_ENST00000607389.1_lincRNA	NM_175873.4	NP_787069.3	Q2M3V2	SWAHA_HUMAN	sosondowah ankyrin repeat domain family member A	481																	CATTTCTGGGCGTCCTGGCTG	0.627																																						ENST00000378693.2																			0											c.(1441-1443)ggC>ggT		sosondowah ankyrin repeat domain family member A							42	40	40					5																	132150756		2202	4300	6502	SO:0001819	synonymous_variant	134548							g.chr5:132150756C>T	AK090823	CCDS43361.1	5q23.3	2013-01-10	2012-01-12	2012-01-12	ENSG00000198944	ENSG00000198944		"Ankyrin repeat domain containing"	27033	protein-coding gene	gene with protein product			"ankyrin repeat domain 43"	ANKRD43		22234889	Standard	NM_175873		Approved		uc003kxw.3	Q2M3V2	OTTHUMG00000059844	ENST00000378693.2:c.1443C>T	5.37:g.132150756C>T							p.G481G	NM_175873.4	NP_787069.3	Q2M3V2	ANR43_HUMAN			1	1724	+			481					Q8NAE7	Silent	SNP	ENST00000378693.2	37	c.1443C>T	CCDS43361.1																																																																																				0.627	SOWAHA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133062.1	NM_175873		7	5	0	0	0	1	0	7	5					T	132150756	C	T	132150756	2	4	435	1	0	0	0	0	0	0	0	1	671	755	27	1		1	ANKRD43	5	132150756	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	51239	132150756	48764504	2783	23708											
HSPA4	3308	broad.mit.edu	37	chr5	132408971	132408971	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acgatcagtgatggatgcaaCacagattgctggtcttaatt	12	12	10	7	1	2	2	1	1	1	1	2	4	2	3	0	2	3	2	0	2	2	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:132408971C>T	ENST00000304858.2	+	5	768	c.479C>T	c.(478-480)aCa>aTa	p.T160I		NM_002154.3	NP_002145.3	P34932	HSP74_HUMAN	heat shock 70kDa protein 4	160					chaperone-mediated protein complex assembly (GO:0051131)|protein import into mitochondrial outer membrane (GO:0045040)|response to unfolded protein (GO:0006986)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(10)|stomach(1)	32			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			ATGGATGCAACACAGATTGCT	0.338																																					Colon(114;1299 1588 6063 12302 48757)	ENST00000304858.2																			0				NS(2)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(10)|stomach(1)	32						c.(478-480)aCa>aTa		heat shock 70kDa protein 4							140	127	132					5																	132408971		2203	4300	6503	SO:0001583	missense	3308				cellular chaperone-mediated protein complex assembly|protein import into mitochondrial outer membrane|response to unfolded protein	cytoplasm|nucleus	ATP binding	g.chr5:132408971C>T	AB023420	CCDS4166.1	5q31.1	2011-09-07	2002-08-29		ENSG00000170606	ENSG00000170606		"Heat shock proteins / HSP70"	5237	protein-coding gene	gene with protein product	"hsp70 RY"	601113	"heat shock 70kD protein 4"			8335910	Standard	NM_002154		Approved	HS24/P52, HSPH2	uc003kyj.3	P34932	OTTHUMG00000129012	ENST00000304858.2:c.479C>T	5.37:g.132408971C>T	ENSP00000302961:p.Thr160Ile						p.T160I	NM_002154.3	NP_002145.3	P34932	HSP74_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		5	768	+			160					O95756|Q2TAL4|Q9BUK9	Missense_Mutation	SNP	ENST00000304858.2	37	c.479C>T	CCDS4166.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.248969	0.80024	.	.	ENSG00000170606	ENST00000304858;ENST00000537974	T	0.00976	5.48	5.78	5.78	0.91487	.	0.045915	0.85682	D	0.000000	T	0.03011	0.0089	L	0.42245	1.32	0.80722	D	1	P	0.49307	0.922	P	0.54100	0.742	T	0.56294	-0.8003	10	0.87932	D	0	-17.4695	20.3754	0.98918	0.0:1.0:0.0:0.0	.	160	P34932	HSP74_HUMAN	I	160	ENSP00000302961:T160I	ENSP00000302961:T160I	T	+	2	0	HSPA4	132436870	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.400000	0.79949	2.894000	0.99253	0.591000	0.81541	ACA		0.338	HSPA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251011.1	NM_002154, NM_198431		16	19	0	0	0	1	0	16	19					T	132408971	C	T	132408971	3	4	435	1	0	0	0	0	1	0	0	0	7412	478	17	3	497	3	HSPA4	5	132408971	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	258215	132408971	48506289	2784	23709											
HSPA4	3308	broad.mit.edu	37	chr5	132437570	132437570	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atcagctctttcaaaaacaaGgtaacttttttctttgtcct	11	17	4	9	0	4	0	2	0	2	0	5	0	5	0	1	1	3	2	1	1	4	6			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:132437570G>T	ENST00000304858.2	+	17	2446	c.2157G>T	c.(2155-2157)aaG>aaT	p.K719N		NM_002154.3	NP_002145.3	P34932	HSP74_HUMAN	heat shock 70kDa protein 4	719					chaperone-mediated protein complex assembly (GO:0051131)|protein import into mitochondrial outer membrane (GO:0045040)|response to unfolded protein (GO:0006986)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(10)|stomach(1)	32			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TCAAAAACAAGGTAACTTTTT	0.328																																					Colon(114;1299 1588 6063 12302 48757)	ENST00000304858.2																			0				NS(2)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(10)|stomach(1)	32						c.e17+1		heat shock 70kDa protein 4							52	50	50					5																	132437570		2203	4298	6501	SO:0001630	splice_region_variant	3308				cellular chaperone-mediated protein complex assembly|protein import into mitochondrial outer membrane|response to unfolded protein	cytoplasm|nucleus	ATP binding	g.chr5:132437570G>T	AB023420	CCDS4166.1	5q31.1	2011-09-07	2002-08-29		ENSG00000170606	ENSG00000170606		"Heat shock proteins / HSP70"	5237	protein-coding gene	gene with protein product	"hsp70 RY"	601113	"heat shock 70kD protein 4"			8335910	Standard	NM_002154		Approved	HS24/P52, HSPH2	uc003kyj.3	P34932	OTTHUMG00000129012	ENST00000304858.2:c.2157+1G>T	5.37:g.132437570G>T							p.K719_splice	NM_002154.3	NP_002145.3	P34932	HSP74_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		17	2446	+			719					O95756|Q2TAL4|Q9BUK9	Splice_Site	SNP	ENST00000304858.2	37	c.2157_splice	CCDS4166.1	.	.	.	.	.	.	.	.	.	.	G	15.37	2.814164	0.50527	.	.	ENSG00000170606	ENST00000304858	T	0.13657	2.57	5.02	5.02	0.67125	.	0.000000	0.85682	D	0.000000	T	0.32164	0.0820	L	0.49640	1.575	0.80722	D	1	D	0.71674	0.998	D	0.78314	0.991	T	0.01081	-1.1458	10	0.27785	T	0.31	-17.1515	18.7053	0.91635	0.0:0.0:1.0:0.0	.	719	P34932	HSP74_HUMAN	N	719	ENSP00000302961:K719N	ENSP00000302961:K719N	K	+	3	2	HSPA4	132465469	1.000000	0.71417	1.000000	0.80357	0.547000	0.35210	7.415000	0.80131	2.503000	0.84419	0.579000	0.79373	AAG		0.328	HSPA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251011.1	NM_002154, NM_198431	Missense_Mutation	4	16	1	0	0.00024832	1	0.000253518	4	16					T	132437570	G	T	132437570	5	4	435	1	0	0	0	0	0	0	1	0	7412	1014	35	5	2223	5	HSPA4	5	132437570	Splice_Site	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	28599	132437570	48477690	2785	23710											
FSTL4	23105	broad.mit.edu	37	chr5	132535161	132535161	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagggtctggatctcgccccGcactgtgatctcctgcacgt	5	10	11	15	3	3	1	0	1	3	0	5	2	3	2	3	2	1	2	3	2	0	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:132535161G>A	ENST00000265342.7	-	16	2404	c.2155C>T	c.(2155-2157)Cgg>Tgg	p.R719W	CTB-49A3.2_ENST00000509051.1_RNA	NM_015082.1	NP_055897.1	Q6MZW2	FSTL4_HUMAN	follistatin-like 4	719						extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(8)|skin(2)|upper_aerodigestive_tract(1)	23		all_cancers(142;0.244)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			ATCTCGCCCCGCACTGTGATC	0.557																																						ENST00000265342.7																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(8)|skin(2)|upper_aerodigestive_tract(1)	23						c.(2155-2157)Cgg>Tgg		follistatin-like 4							70	69	70					5																	132535161		2203	4300	6503	SO:0001583	missense	23105					extracellular region	calcium ion binding	g.chr5:132535161G>A	AB028984	CCDS34238.1	5q31.1	2013-01-29			ENSG00000053108	ENSG00000053108		"EF-hand domain containing", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	21389	protein-coding gene	gene with protein product						10470851, 15527507	Standard	NM_015082		Approved	KIAA1061	uc003kyn.1	Q6MZW2	OTTHUMG00000162729	ENST00000265342.7:c.2155C>T	5.37:g.132535161G>A	ENSP00000265342:p.Arg719Trp					CTB-49A3.2_ENST00000509051.1_RNA	p.R719W	NM_015082.1	NP_055897.1	Q6MZW2	FSTL4_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		16	2404	-		all_cancers(142;0.244)	719					Q8TBU0|Q9UPU1	Missense_Mutation	SNP	ENST00000265342.7	37	c.2155C>T	CCDS34238.1	.	.	.	.	.	.	.	.	.	.	G	13.59	2.282844	0.40394	.	.	ENSG00000053108	ENST00000265342;ENST00000360575	T	0.32023	1.47	4.76	1.78	0.24846	WD40/YVTN repeat-like-containing domain (1);	0.229124	0.36167	N	0.002744	T	0.48909	0.1526	M	0.73962	2.25	0.26002	N	0.982102	D;D	0.76494	0.997;0.999	P;P	0.59948	0.739;0.866	T	0.47959	-0.9076	10	0.87932	D	0	-23.1376	12.8201	0.57688	0.0:0.0:0.573:0.427	.	719;368	Q6MZW2;B3KPF3	FSTL4_HUMAN;.	W	719;550	ENSP00000265342:R719W	ENSP00000265342:R719W	R	-	1	2	FSTL4	132563060	0.036000	0.19791	0.502000	0.27614	0.022000	0.10575	2.170000	0.42443	0.417000	0.25871	-0.291000	0.09656	CGG		0.557	FSTL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370212.1	XM_048786		22	25	0	0	0	1	0	22	25					A	132535161	G	A	132535161	3	1	435	1	0	0	0	0	1	0	0	0	6079	1086	38	1	377	1	FSTL4	5	132535161	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	97591	132535161	48380099	2786	23711											
TCF7	6932	broad.mit.edu	37	chr5	133451600	133451600	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cccagctgtggtttttccagGcctgaaggccccggagtgca	6	9	13	13	1	0	1	0	1	0	0	1	2	1	2	5	4	2	3	5	4	1	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:133451600G>A	ENST00000321584.4	+	3	513	c.317G>A	c.(316-318)gGc>gAc	p.G106D	TCF7_ENST00000520958.1_5'UTR|TCF7_ENST00000321603.6_Splice_Site_p.G106D|TCF7_ENST00000378560.4_5'UTR|TCF7_ENST00000432532.2_5'UTR|TCF7_ENST00000395029.1_Splice_Site_p.G106D|TCF7_ENST00000342854.5_Splice_Site_p.G106D|TCF7_ENST00000395023.1_5'UTR|TCF7_ENST00000518915.1_5'UTR|TCF7_ENST00000378564.1_Splice_Site_p.G106D			P36402	TCF7_HUMAN	transcription factor 7 (T-cell specific, HMG-box)	106					alpha-beta T cell differentiation (GO:0046632)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|cellular response to interleukin-4 (GO:0071353)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic genitalia morphogenesis (GO:0030538)|embryonic hindgut morphogenesis (GO:0048619)|generation of neurons (GO:0048699)|immune response (GO:0006955)|neural tube development (GO:0021915)|regulation of cell proliferation (GO:0042127)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|T cell receptor V(D)J recombination (GO:0033153)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			kidney(2)|large_intestine(7)|lung(2)|skin(1)	12		Breast(839;0.058)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GTTTTTCCAGGCCTGAAGGCC	0.597																																						ENST00000395029.1																			0				kidney(2)|large_intestine(7)|lung(2)|skin(1)	12						c.e3-1		transcription factor 7 (T-cell specific, HMG-box)							54	58	57					5																	133451600		2203	4300	6503	SO:0001630	splice_region_variant	6932				cellular response to interleukin-4|immune response|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|Wnt receptor signaling pathway	nucleus	protein binding|transcription regulatory region DNA binding	g.chr5:133451600G>A	Z47362	CCDS4169.1, CCDS4170.1, CCDS43362.1, CCDS47263.1, CCDS47263.2	5q31	2008-02-05			ENSG00000081059	ENSG00000081059			11639	protein-coding gene	gene with protein product		189908					Standard	NM_003202		Approved	TCF-1	uc003kyt.3	P36402	OTTHUMG00000129124	ENST00000321584.4:c.317-1G>A	5.37:g.133451600G>A						TCF7_ENST00000342854.5_Splice_Site_p.G106_splice|TCF7_ENST00000518915.1_5'UTR|TCF7_ENST00000321584.4_Splice_Site_p.G106_splice|TCF7_ENST00000378560.4_5'UTR|TCF7_ENST00000378564.1_Splice_Site_p.G106_splice|TCF7_ENST00000520958.1_5'UTR|TCF7_ENST00000432532.2_5'UTR|TCF7_ENST00000321603.6_Splice_Site_p.G106_splice|TCF7_ENST00000395023.1_5'UTR	p.G106_splice			P36402	TCF7_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		3	512	+		Breast(839;0.058)	106					B3KSH3|Q86WR9|Q9UKI4	Splice_Site	SNP	ENST00000321584.4	37	c.316_splice		.	.	.	.	.	.	.	.	.	.	G	18.68	3.675453	0.67928	.	.	ENSG00000081059	ENST00000342854;ENST00000361590;ENST00000321603;ENST00000321584;ENST00000378564;ENST00000395029	D;D;D;D;D	0.99619	-6.23;-6.24;-6.28;-6.27;-5.97	5.1	5.1	0.69264	.	0.000000	0.40144	N	0.001161	D	0.99158	0.9709	L	0.29908	0.895	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	D	0.98869	1.0765	10	0.59425	D	0.04	.	14.0806	0.64919	0.0:0.0:1.0:0.0	.	106	P36402-5	.	D	106	ENSP00000340347:G106D;ENSP00000326654:G106D;ENSP00000326540:G106D;ENSP00000367827:G106D;ENSP00000378472:G106D	ENSP00000326540:G106D	G	+	2	0	TCF7	133479499	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.682000	0.46934	2.372000	0.80975	0.558000	0.71614	GGC		0.597	TCF7-201	KNOWN	basic	protein_coding	protein_coding		NM_201634	Missense_Mutation	14	22	0	0	0	1	0	14	22					A	133451600	G	A	133451600	5	1	435	1	0	0	0	0	0	0	1	0	15693	1217	42	3	327	3	TCF7	5	133451600	Splice_Site	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	916439	133451600	47463660	2787	23712											
PHF15	23338	broad.mit.edu	37	chr5	133914504	133914504	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacggacgactccagacaaaGcccccaagaagacctggggc	13	2	11	15	2	0	3	0	0	0	3	1	5	1	4	4	3	1	0	4	3	3	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:133914504G>A	ENST00000282605.4	+	12	2088	c.2002G>A	c.(2002-2004)Gcc>Acc	p.A668T	PHF15_ENST00000395003.1_Missense_Mutation_p.A624T|PHF15_ENST00000361895.2_Missense_Mutation_p.A625T|PHF15_ENST00000402835.1_3'UTR																NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	22			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TCCAGACAAAGCCCCCAAGAA	0.647																																						ENST00000395003.1																			0				NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	22						c.(1870-1872)Gcc>Acc									46	52	50					5																	133914504		2203	4300	6503	SO:0001583	missense	0				histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation	histone acetyltransferase complex	zinc ion binding	g.chr5:133914504G>A																												ENST00000282605.4:c.2002G>A	5.37:g.133914504G>A	ENSP00000282605:p.Ala668Thr					PHF15_ENST00000402835.1_3'UTR|PHF15_ENST00000282605.4_Missense_Mutation_p.A668T|PHF15_ENST00000361895.2_Missense_Mutation_p.A625T	p.A624T	NM_015288.4	NP_056103.4	Q9NQC1	JADE2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		11	2049	+			624			Pro-rich.			Missense_Mutation	SNP	ENST00000282605.4	37	c.1870G>A		.	.	.	.	.	.	.	.	.	.	g	2.450	-0.326544	0.05350	.	.	ENSG00000043143	ENST00000448712;ENST00000282605;ENST00000361895;ENST00000432594;ENST00000395003	T;T;T	0.41065	1.01;1.03;1.03	5.25	-9.22	0.00675	.	1.759490	0.03013	N	0.149650	T	0.11281	0.0275	N	0.01352	-0.895	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.06405	0.0;0.0;0.002	T	0.13202	-1.0518	10	0.15066	T	0.55	.	3.2412	0.06782	0.3003:0.1844:0.3849:0.1305	.	624;625;684	Q9NQC1;D3DQA3;B3KPL2	JADE2_HUMAN;.;.	T	684;668;625;625;624	ENSP00000282605:A668T;ENSP00000354425:A625T;ENSP00000378451:A624T	ENSP00000282605:A668T	A	+	1	0	PHF15	133942403	0.000000	0.05858	0.018000	0.16275	0.577000	0.36160	-1.117000	0.03283	-1.200000	0.02662	0.306000	0.20318	GCC		0.647	PHF15-003	NOVEL	alternative_5_UTR|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000251170.1			13	18	0	0	0	1	0	13	18					A	133914504	G	A	133914504	3	1	435	1	0	0	0	0	1	0	0	0	11826	971	34	3	1908	3	PHF15	5	133914504	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	462904	133914504	47000756	2788	23713											
SEC24A	10802	broad.mit.edu	37	chr5	134056760	134056760	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttctaggagttcaaaactatGcatcaattccacagcctatg	13	12	6	10	0	3	0	2	0	1	0	4	1	4	1	2	1	3	2	2	1	6	6			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:134056760G>A	ENST00000398844.2	+	21	3331	c.3043G>A	c.(3043-3045)Gca>Aca	p.A1015T		NM_021982.2	NP_068817.1	O95486	SC24A_HUMAN	SEC24 family member A	1015					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular protein metabolic process (GO:0044267)|COPII vesicle coating (GO:0048208)|ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|positive regulation of cholesterol homeostasis (GO:2000189)|positive regulation of protein secretion (GO:0050714)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045714)|small molecule metabolic process (GO:0044281)	COPII vesicle coat (GO:0030127)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)	zinc ion binding (GO:0008270)			NS(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	36			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TCAAAACTATGCATCAATTCC	0.343																																						ENST00000398844.2																			0				NS(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	36						c.(3043-3045)Gca>Aca		SEC24 family member A							96	90	92					5																	134056760		1812	4083	5895	SO:0001583	missense	10802				COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	zinc ion binding	g.chr5:134056760G>A	AJ131244	CCDS43363.1, CCDS58967.1	5q31.1	2013-10-21	2013-10-21		ENSG00000113615	ENSG00000113615			10703	protein-coding gene	gene with protein product		607183	"SEC24 (S. cerevisiae) related gene family, member A", "SEC24 family, member A (S. cerevisiae)"			10075675, 10329445	Standard	NM_021982		Approved		uc003kzs.3	O95486	OTTHUMG00000163064	ENST00000398844.2:c.3043G>A	5.37:g.134056760G>A	ENSP00000381823:p.Ala1015Thr						p.A1015T	NM_021982.2	NP_068817.1	O95486	SC24A_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		21	3331	+			1015					A8MVW3|Q8WUV2|Q96GP7	Missense_Mutation	SNP	ENST00000398844.2	37	c.3043G>A	CCDS43363.1	.	.	.	.	.	.	.	.	.	.	G	18.53	3.644141	0.67244	.	.	ENSG00000113615	ENST00000398844	T	0.57595	0.39	5.45	5.45	0.79879	Gelsolin domain (1);	0.324149	0.31279	N	0.007937	T	0.52224	0.1721	L	0.58302	1.8	0.80722	D	1	B;B	0.17852	0.007;0.024	B;B	0.15052	0.008;0.012	T	0.45716	-0.9242	10	0.28530	T	0.3	-9.3616	19.2912	0.94100	0.0:0.0:1.0:0.0	.	779;1015	B4E205;O95486	.;SC24A_HUMAN	T	1015	ENSP00000381823:A1015T	ENSP00000381823:A1015T	A	+	1	0	SEC24A	134084659	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	6.841000	0.75374	2.555000	0.86185	0.591000	0.81541	GCA		0.343	SEC24A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371563.1			9	46	0	0	0	1	0	9	46					A	134056760	G	A	134056760	3	1	435	1	0	0	0	0	1	0	0	0	13994	1319	46	3	3125	3	SEC24A	5	134056760	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	142256	134056760	46858500	2789	23714											
DDX46	9879	broad.mit.edu	37	chr5	134099638	134099638	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccggggtcgctctggaagtcGgtctagaagtcgctcaccct	6	9	13	13	4	3	1	1	0	2	1	6	2	3	2	2	4	0	2	2	4	3	1	rs200919517		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:134099638G>A	ENST00000354283.4	+	2	197	c.62G>A	c.(61-63)cGg>cAg	p.R21Q	DDX46_ENST00000452510.2_Missense_Mutation_p.R21Q			Q7L014	DDX46_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 46	21	Arg-rich.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)			NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			TCTGGAAGTCGGTCTAGAAGT	0.458													G|||	1	0.000199681	0	0	5008	,	,		16633	0		0.001	False		,,,				2504	0				Colon(13;391 453 4901 21675 24897)	ENST00000452510.2																			0				NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						c.(61-63)cGg>cAg		DEAD (Asp-Glu-Ala-Asp) box polypeptide 46		G	GLN/ARG	0,4406		0,0,2203	81	78	79		62	5.2	1	5		79	1,8599	1.2+/-3.3	0,1,4299	no	missense	DDX46	NM_014829.2	43	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	21/1032	134099638	1,13005	2203	4300	6503	SO:0001583	missense	9879				mRNA processing|RNA splicing	Cajal body|nuclear speck	ATP binding|ATP-dependent helicase activity|RNA binding	g.chr5:134099638G>A		CCDS34240.1, CCDS75306.1	5q31.1	2010-01-25			ENSG00000145833	ENSG00000145833		"DEAD-boxes"	18681	protein-coding gene	gene with protein product							Standard	XM_005272142		Approved	KIAA0801, FLJ25329, PRPF5, Prp5	uc003kzw.3	Q7L014	OTTHUMG00000163072	ENST00000354283.4:c.62G>A	5.37:g.134099638G>A	ENSP00000346236:p.Arg21Gln					DDX46_ENST00000354283.4_Missense_Mutation_p.R21Q	p.R21Q	NM_014829.2	NP_055644.2	Q7L014	DDX46_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)		2	220	+			21			Arg-rich.		O94894|Q96EI0|Q9Y658	Missense_Mutation	SNP	ENST00000354283.4	37	c.62G>A	CCDS34240.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	23.6	4.436298	0.83885	0.0	1.16E-4	ENSG00000145833	ENST00000452510;ENST00000537371;ENST00000354283	T;T	0.44482	0.92;0.92	5.22	5.22	0.72569	.	0.000000	0.85682	D	0.000000	T	0.64983	0.2648	M	0.82823	2.61	0.80722	D	1	D	0.64830	0.994	P	0.61201	0.885	T	0.62765	-0.6785	10	0.27082	T	0.32	-8.1243	18.9912	0.92793	0.0:0.0:1.0:0.0	.	21	Q7L014	DDX46_HUMAN	Q	21	ENSP00000416534:R21Q;ENSP00000346236:R21Q	ENSP00000346236:R21Q	R	+	2	0	DDX46	134127537	1.000000	0.71417	0.996000	0.52242	0.988000	0.76386	8.752000	0.91632	2.708000	0.92522	0.650000	0.86243	CGG		0.458	DDX46-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371584.1	NM_014829		27	37	0	0	0	1	0	27	37					A	134099638	G	A	134099638	3	1	435	1	0	0	0	0	1	0	0	0	4364	1116	39	2	68	2	DDX46	5	134099638	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	42878	134099638	46815622	2790	23715											
TXNDC15	79770	broad.mit.edu	37	chr5	134223831	134223831	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtgaggagagaaacattacaGgattagaaaatttcactctg	16	10	10	5	0	2	3	1	1	1	2	2	6	2	5	0	2	2	0	0	2	5	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:134223831G>T	ENST00000358387.4	+	2	1175	c.550G>T	c.(550-552)Gga>Tga	p.G184*	TXNDC15_ENST00000546290.1_Nonsense_Mutation_p.G161*	NM_024715.3	NP_078991.3	Q96J42	TXD15_HUMAN	thioredoxin domain containing 15	184	Thioredoxin. {ECO:0000255|PROSITE- ProRule:PRU00691}.				cell redox homeostasis (GO:0045454)	integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1)	17			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			AAACATTACAGGATTAGAAAA	0.368																																						ENST00000358387.4																			0				breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1)	17						c.(550-552)Gga>Tga		thioredoxin domain containing 15							35	40	38					5																	134223831		2202	4299	6501	SO:0001587	stop_gained	79770				cell redox homeostasis	integral to membrane		g.chr5:134223831G>T	AK026278	CCDS4180.1	5q31.1	2008-02-05	2007-08-16	2007-08-16	ENSG00000113621	ENSG00000113621			20652	protein-coding gene	gene with protein product			"chromosome 5 open reading frame 14"	C5orf14			Standard	NM_024715		Approved	2310047H23Rik, FLJ22625	uc003lac.1	Q96J42	OTTHUMG00000129115	ENST00000358387.4:c.550G>T	5.37:g.134223831G>T	ENSP00000351157:p.Gly184*					TXNDC15_ENST00000546290.1_Nonsense_Mutation_p.G161*	p.G184*	NM_024715.3	NP_078991.3	Q96J42	TXD15_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)		2	1175	+			184			Thioredoxin.		D3DQA9|Q96MT2|Q9H639	Nonsense_Mutation	SNP	ENST00000358387.4	37	c.550G>T	CCDS4180.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.53|14.53	2.562388|2.562388	0.45694|0.45694	.|.	.|.	ENSG00000113621|ENSG00000113621	ENST00000441965;ENST00000358387;ENST00000508810;ENST00000546290|ENST00000508779	.|.	.|.	.|.	5.61|5.61	5.61|5.61	0.85477|0.85477	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	.|T	.|0.76292	.|0.3967	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.74657	.|-0.3592	.|3	0.66056|.	D|.	0.02|.	0.1561|0.1561	19.2386|19.2386	0.93873|0.93873	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	X|H	168;184;167;161|167	.|.	ENSP00000351157:G184X|.	G|Q	+|+	1|3	0|2	TXNDC15|TXNDC15	134251730|134251730	1.000000|1.000000	0.71417|0.71417	0.128000|0.128000	0.21923|0.21923	0.043000|0.043000	0.13939|0.13939	8.743000|8.743000	0.91592|0.91592	2.638000|2.638000	0.89438|0.89438	0.655000|0.655000	0.94253|0.94253	GGA|CAG		0.368	TXNDC15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251160.1	NM_024715		9	20	1	0	0.00448238	1	0.00453641	9	20					T	134223831	G	T	134223831	4	4	435	1	0	0	0	0	0	1	0	0	16791	1001	35	5	556	5	TXNDC15	5	134223831	Nonsense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	124193	134223831	46691429	2791	23716											
CATSPER3	347732	broad.mit.edu	37	chr5	134332150	134332150	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ttacctgtatatcgctgatgGcatgcagtccctgcgcatcc	7	12	9	13	2	0	1	0	1	0	0	3	1	2	1	3	1	3	5	3	1	3	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:134332150G>A	ENST00000282611.6	+	3	526	c.440G>A	c.(439-441)gGc>gAc	p.G147D		NM_178019.2	NP_821138.1	Q86XQ3	CTSR3_HUMAN	cation channel, sperm associated 3	147					calcium ion import (GO:0070509)|membrane depolarization during action potential (GO:0086010)|multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|single fertilization (GO:0007338)|sodium ion transport (GO:0006814)|sperm capacitation (GO:0048240)|sperm motility (GO:0030317)|sperm-egg recognition (GO:0035036)	acrosomal vesicle (GO:0001669)|CatSper complex (GO:0036128)|endoplasmic reticulum (GO:0005783)|motile cilium (GO:0031514)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|voltage-gated calcium channel activity (GO:0005245)			NS(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|stomach(1)|urinary_tract(1)	18			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			ATCGCTGATGGCATGCAGTCC	0.547																																						ENST00000282611.6																			0				NS(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|stomach(1)|urinary_tract(1)	18						c.(439-441)gGc>gAc		cation channel, sperm associated 3							132	115	121					5																	134332150		2203	4300	6503	SO:0001583	missense	347732				cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	calcium channel activity|voltage-gated ion channel activity	g.chr5:134332150G>A	AF432876	CCDS4181.1	5q31.2	2011-07-05			ENSG00000152705	ENSG00000152705		"Voltage-gated ion channels / Cation channels, sperm associated"	20819	protein-coding gene	gene with protein product		609120				12646162, 12932298, 17227845, 16382101	Standard	NM_178019		Approved	CACRC	uc003lag.3	Q86XQ3	OTTHUMG00000129137	ENST00000282611.6:c.440G>A	5.37:g.134332150G>A	ENSP00000282611:p.Gly147Asp						p.G147D	NM_178019.2	NP_821138.1	Q86XQ3	CTSR3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)		3	526	+			147					Q86XS6	Missense_Mutation	SNP	ENST00000282611.6	37	c.440G>A	CCDS4181.1	.	.	.	.	.	.	.	.	.	.	G	18.87	3.715348	0.68844	.	.	ENSG00000152705	ENST00000282611	D	0.98437	-4.93	4.14	4.14	0.48551	Ion transport (1);	0.000000	0.53938	D	0.000054	D	0.98134	0.9384	L	0.51422	1.61	0.20074	N	0.999933	D	0.89917	1.0	D	0.97110	1.0	D	0.93608	0.6936	10	0.52906	T	0.07	-25.0035	12.2204	0.54431	0.0:0.0:1.0:0.0	.	147	Q86XQ3	CTSR3_HUMAN	D	147	ENSP00000282611:G147D	ENSP00000282611:G147D	G	+	2	0	CATSPER3	134360049	0.995000	0.38212	0.152000	0.22495	0.339000	0.28857	4.641000	0.61375	2.587000	0.87381	0.561000	0.74099	GGC		0.547	CATSPER3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251191.2	NM_178019		16	30	0	0	0	1	0	16	30					A	134332150	G	A	134332150	3	1	435	1	0	0	0	0	1	0	0	0	2689	1203	42	3	450	3	CATSPER3	5	134332150	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	108319	134332150	46583110	2792	23717											
PITX1	5307	broad.mit.edu	37	chr5	134367190	134367190	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccccttgggttccccgccgcGctccttctctgcagtaggca	3	10	10	18	3	1	0	0	0	1	0	4	0	3	0	6	2	1	5	6	2	1	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:134367190G>A	ENST00000265340.7	-	2	594	c.178C>T	c.(178-180)Cgc>Tgc	p.R60C	CTC-349C3.1_ENST00000432382.3_5'Flank|PITX1_ENST00000506438.1_Missense_Mutation_p.R60C	NM_002653.4	NP_002644.4	P78337	PITX1_HUMAN	paired-like homeodomain 1	60					anatomical structure morphogenesis (GO:0009653)|branchiomeric skeletal muscle development (GO:0014707)|cartilage development (GO:0051216)|embryonic hindlimb morphogenesis (GO:0035116)|myoblast fate commitment (GO:0048625)|pituitary gland development (GO:0021983)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)			central_nervous_system(1)|cervix(3)|endometrium(3)|large_intestine(1)|lung(5)|ovary(1)	14			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)	READ - Rectum adenocarcinoma(2;0.0607)		TCCCCGCCGCGCTCCTTCTCT	0.721																																						ENST00000265340.7																			0				central_nervous_system(1)|cervix(3)|endometrium(3)|large_intestine(1)|lung(5)|ovary(1)	14						c.(178-180)Cgc>Tgc		paired-like homeodomain 1							20	19	19					5																	134367190		2200	4298	6498	SO:0001583	missense	5307					nucleolus	sequence-specific DNA binding	g.chr5:134367190G>A	AF009648	CCDS4182.1	5q31.1	2011-06-20	2007-07-12		ENSG00000069011	ENSG00000069011		"Homeoboxes / PRD class"	9004	protein-coding gene	gene with protein product		602149	"paired-like homeodomain transcription factor 1"	BFT		9337397, 9070926	Standard	NM_002653		Approved	PTX1, POTX	uc010jea.3	P78337	OTTHUMG00000149983	ENST00000265340.7:c.178C>T	5.37:g.134367190G>A	ENSP00000265340:p.Arg60Cys					PITX1_ENST00000506438.1_Missense_Mutation_p.R60C	p.R60C	NM_002653.4	NP_002644.4	P78337	PITX1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)	READ - Rectum adenocarcinoma(2;0.0607)	2	594	-			60					A8K3M0|D3DQB0|O14677|O60425|Q9BTI5	Missense_Mutation	SNP	ENST00000265340.7	37	c.178C>T	CCDS4182.1	.	.	.	.	.	.	.	.	.	.	G	17.40	3.380645	0.61845	.	.	ENSG00000069011	ENST00000265340;ENST00000506438;ENST00000507253;ENST00000502676	D;D;D;D	0.94537	-2.76;-2.76;-3.45;-2.57	4.81	4.81	0.61882	.	0.000000	0.85682	D	0.000000	D	0.94122	0.8115	M	0.62723	1.935	0.80722	D	1	D	0.76494	0.999	P	0.48677	0.586	D	0.93749	0.7057	10	0.44086	T	0.13	.	14.4176	0.67160	0.0:0.0:0.8522:0.1478	.	60	P78337	PITX1_HUMAN	C	60	ENSP00000265340:R60C;ENSP00000427542:R60C;ENSP00000422908:R60C;ENSP00000423624:R60C	ENSP00000265340:R60C	R	-	1	0	PITX1	134395089	0.013000	0.17824	1.000000	0.80357	0.986000	0.74619	1.119000	0.31258	2.228000	0.72767	0.563000	0.77884	CGC		0.721	PITX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251195.3			10	10	0	0	0	1	0	10	10					A	134367190	G	A	134367190	3	1	435	1	0	0	0	0	1	0	0	0	11954	1087	38	1	774	1	PITX1	5	134367190	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	35040	134367190	46548070	2793	23718											
TIFAB	140947	broad.mit.edu	37	chr5	134785304	134785304	+	5'Flank	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cgcgaaccagcatctggatgCctgagaaggagaccctgttg	10	7	13	11	2	1	2	0	1	1	2	1	6	1	3	3	2	3	2	3	2	2	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:134785304C>T	ENST00000503143.2	-	0	0				TIFAB_ENST00000537858.1_Missense_Mutation_p.G109D|CTB-138E5.1_ENST00000510230.1_RNA	NM_130848.2	NP_570900.1	Q8TF63	DCNP1_HUMAN								nucleus (GO:0005634)				endometrium(1)|lung(1)|prostate(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			CATCTGGATGCCTGAGAAGGA	0.577																																						ENST00000537858.1																			0				breast(1)|endometrium(1)|liver(1)|lung(5)	8						c.(325-327)gGc>gAc		TRAF-interacting protein with forkhead-associated domain, family member B							97	100	99					5																	134785304		2076	4215	6291	SO:0001631	upstream_gene_variant	497189							g.chr5:134785304C>T																													5.37:g.134785304C>T	Exception_encountered						p.G109D	NM_001099221.1	NP_001092691.1	Q6ZNK6	TIFAB_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)		2	526	-			109						Missense_Mutation	SNP	ENST00000503143.2	37	c.326G>A	CCDS4186.1	.	.	.	.	.	.	.	.	.	.	C	2.208	-0.381314	0.05000	.	.	ENSG00000255833	ENST00000537858	T	0.39592	1.07	5.27	3.5	0.40072	Forkhead-associated (FHA) domain (1);SMAD/FHA domain (1);	0.284658	0.28659	U	0.014572	T	0.24547	0.0595	L	0.32530	0.975	0.09310	N	1	B	0.24882	0.113	B	0.20184	0.028	T	0.28933	-1.0028	10	0.02654	T	1	.	8.2498	0.31710	0.0:0.8295:0.0:0.1705	.	109	Q6ZNK6	TIFAB_HUMAN	D	109	ENSP00000440509:G109D	ENSP00000440509:G109D	G	-	2	0	TIFAB	134813203	0.001000	0.12720	0.001000	0.08648	0.019000	0.09904	0.883000	0.28200	0.619000	0.30197	0.563000	0.77884	GGC		0.577	C5orf20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372531.1			5	85	0	0	0	1	0	5	85					T	134785304	C	T	134785304	1	4	435	0	1	0	0	0	0	0	0	0	15892	739	26	3		3	TIFAB	5	134785304	5'Flank	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	418114	134785304	46129956	2794	23719											
TRPC7	57113	broad.mit.edu	37	chr5	135692605	135692605	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgtgggagaagcgcgtgccGtcctcgtcgtaggcatagaa	8	8	15	10	6	0	2	0	0	0	2	4	3	1	2	2	2	2	2	2	2	4	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:135692605G>A	ENST00000513104.1	-	2	753	c.471C>T	c.(469-471)gaC>gaT	p.D157D	TRPC7_ENST00000426057.2_Silent_p.D157D|TRPC7_ENST00000355180.3_Silent_p.D157D	NM_020389.2	NP_065122.1	Q9HCX4	TRPC7_HUMAN	transient receptor potential cation channel, subfamily C, member 7	157					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|manganese ion transport (GO:0006828)|platelet activation (GO:0030168)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3)	46			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			AGCGCGTGCCGTCCTCGTCGT	0.662																																						ENST00000513104.1																			0				NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3)	46						c.(469-471)gaC>gaT		transient receptor potential cation channel, subfamily C, member 7							131	139	136					5																	135692605		2203	4300	6503	SO:0001819	synonymous_variant	57113				axon guidance|platelet activation	integral to membrane|plasma membrane	calcium channel activity|protein binding	g.chr5:135692605G>A	AJ272034	CCDS47267.1, CCDS47267.2, CCDS54905.1, CCDS54906.1	5q31.2	2011-12-14			ENSG00000069018	ENSG00000069018		"Voltage-gated ion channels / Transient receptor potential cation channels"	20754	protein-coding gene	gene with protein product						11805119, 16382100	Standard	NM_020389		Approved		uc003lbn.2	Q9HCX4	OTTHUMG00000162035	ENST00000513104.1:c.471C>T	5.37:g.135692605G>A						TRPC7_ENST00000426057.2_Silent_p.D157D|TRPC7_ENST00000355180.3_Silent_p.D157D	p.D157D	NM_020389.2	NP_065122.1	Q9HCX4	TRPC7_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)		2	753	-			157					A1A4Z4|F5H5U9|Q70T26|Q8IWP7	Silent	SNP	ENST00000513104.1	37	c.471C>T	CCDS47267.2	.	.	.	.	.	.	.	.	.	.	G	9.771	1.172596	0.21704	.	.	ENSG00000069018	ENST00000352189;ENST00000378459;ENST00000502753	.	.	.	5.27	-4.28	0.03732	.	.	.	.	.	T	0.63850	0.2546	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.64015	-0.6506	4	.	.	.	-23.3719	15.1125	0.72368	0.8762:0.0:0.1238:0.0	.	.	.	.	W	157	.	.	R	-	1	2	TRPC7	135720504	0.866000	0.29940	0.977000	0.42913	0.999000	0.98932	0.007000	0.13174	-0.776000	0.04578	0.655000	0.94253	CGG		0.662	TRPC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366975.1	NM_020389		21	75	0	0	0	1	0	21	75					A	135692605	G	A	135692605	2	1	435	1	0	0	0	0	0	0	0	1	16581	1136	40	1		1	TRPC7	5	135692605	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	907301	135692605	45222655	2795	23720											
SPOCK1	6695	broad.mit.edu	37	chr5	136324289	136324289	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccaacttgttgaacatccaGcccagggagtccttgcagat	10	10	9	12	0	0	2	0	1	0	1	3	3	3	3	4	1	4	2	4	1	2	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:136324289G>A	ENST00000394945.1	-	8	919	c.750C>T	c.(748-750)ggC>ggT	p.G250G	SPOCK1_ENST00000282223.7_Silent_p.G250G|SPOCK1_ENST00000509978.1_5'UTR	NM_004598.3	NP_004589.1	Q08629	TICN1_HUMAN	sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 1	250					cell adhesion (GO:0007155)|central nervous system neuron differentiation (GO:0021953)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of neuron projection development (GO:0010977)|nervous system development (GO:0007399)|neurogenesis (GO:0022008)|neuron migration (GO:0001764)|regulation of cell growth (GO:0001558)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|neuromuscular junction (GO:0031594)|node of Ranvier (GO:0033268)|postsynaptic density (GO:0014069)|proteinaceous extracellular matrix (GO:0005578)|sarcoplasm (GO:0016528)	calcium ion binding (GO:0005509)|cysteine-type endopeptidase inhibitor activity (GO:0004869)|metalloendopeptidase inhibitor activity (GO:0008191)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(2)|lung(4)|ovary(1)|pancreas(1)|stomach(1)	18			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			TGAACATCCAGCCCAGGGAGT	0.512																																						ENST00000394945.1																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(2)|lung(4)|ovary(1)|pancreas(1)|stomach(1)	18						c.(748-750)ggC>ggT		sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 1							125	105	111					5																	136324289		2203	4300	6503	SO:0001819	synonymous_variant	6695				cell adhesion|cell proliferation|cellular component movement|nervous system development|signal transduction	proteinaceous extracellular matrix	calcium ion binding	g.chr5:136324289G>A	AF231124	CCDS4191.1	5q31.2	2008-02-05	2005-11-04	2005-11-04	ENSG00000152377	ENSG00000152377			11251	protein-coding gene	gene with protein product		602264	"sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican)"	TIC1, SPOCK		9545645	Standard	NM_004598		Approved	testican-1	uc003lbp.3	Q08629	OTTHUMG00000129157	ENST00000394945.1:c.750C>T	5.37:g.136324289G>A						SPOCK1_ENST00000509978.1_5'UTR|SPOCK1_ENST00000282223.7_Silent_p.G250G	p.G250G	NM_004598.3	NP_004589.1	Q08629	TICN1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)		8	919	-			250					B3KSW3|Q59EW0|Q8N630|Q9UCL8	Silent	SNP	ENST00000394945.1	37	c.750C>T	CCDS4191.1																																																																																				0.512	SPOCK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251222.1	NM_004598		5	23	0	0	0	1	0	5	23					A	136324289	G	A	136324289	2	1	435	1	0	0	0	0	0	0	0	1	15078	958	34	3		3	SPOCK1	5	136324289	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	631684	136324289	44590971	2796	23721											
KLHL3	26249	broad.mit.edu	37	chr5	137013258	137013258	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcttctgaagaaacggtcagCttgtcgctggatatcaagct	10	12	10	9	2	4	2	2	1	2	1	5	3	4	3	0	2	3	3	0	2	4	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:137013258C>A	ENST00000309755.4	-	6	1055	c.612G>T	c.(610-612)aaG>aaT	p.K204N	KLHL3_ENST00000394937.3_Missense_Mutation_p.K204N|KLHL3_ENST00000541417.1_Missense_Mutation_p.K84N|KLHL3_ENST00000506491.1_Missense_Mutation_p.K122N|KLHL3_ENST00000508657.1_Missense_Mutation_p.K172N	NM_017415.2	NP_059111.2	Q9UH77	KLHL3_HUMAN	kelch-like family member 3	204	BACK.				distal tubule morphogenesis (GO:0072156)|ion homeostasis (GO:0050801)|protein K48-linked ubiquitination (GO:0070936)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|renal sodium ion absorption (GO:0070294)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)	structural molecule activity (GO:0005198)			breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|stomach(1)|upper_aerodigestive_tract(1)	21		all_hematologic(541;3.67e-07)|Breast(839;7.61e-05)|Prostate(281;0.000825)|Ovarian(839;0.0481)|all_lung(232;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)	GBM - Glioblastoma multiforme(465;0.0223)		AAACGGTCAGCTTGTCGCTGG	0.493																																						ENST00000508657.1																			0				breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|stomach(1)|upper_aerodigestive_tract(1)	21						c.(514-516)aaG>aaT		kelch-like family member 3							125	119	121					5																	137013258		2203	4300	6503	SO:0001583	missense	26249					cytoplasm|cytoskeleton	actin binding|structural molecule activity	g.chr5:137013258C>A	AB032955	CCDS4192.1, CCDS58969.1, CCDS58970.1	5q31	2013-01-30	2013-01-30		ENSG00000146021	ENSG00000146021		"Kelch-like", "BTB/POZ domain containing"	6354	protein-coding gene	gene with protein product		605775	"kelch (Drosophila)-like 3", "kelch-like 3 (Drosophila)"			10843806	Standard	NM_017415		Approved	KIAA1129	uc010jek.3	Q9UH77	OTTHUMG00000129155	ENST00000309755.4:c.612G>T	5.37:g.137013258C>A	ENSP00000312397:p.Lys204Asn					KLHL3_ENST00000541417.1_Missense_Mutation_p.K84N|KLHL3_ENST00000394937.3_Missense_Mutation_p.K204N|KLHL3_ENST00000506491.1_Missense_Mutation_p.K122N|KLHL3_ENST00000309755.4_Missense_Mutation_p.K204N	p.K172N	NM_001257194.1	NP_001244123.1	Q9UH77	KLHL3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)	GBM - Glioblastoma multiforme(465;0.0223)	6	1230	-		all_hematologic(541;3.67e-07)|Breast(839;7.61e-05)|Prostate(281;0.000825)|Ovarian(839;0.0481)|all_lung(232;0.198)	204					B2RBK7|Q9UH75|Q9UH76|Q9ULU0|Q9Y6V6	Missense_Mutation	SNP	ENST00000309755.4	37	c.516G>T	CCDS4192.1	.	.	.	.	.	.	.	.	.	.	C	14.95	2.687798	0.48097	.	.	ENSG00000146021	ENST00000506491;ENST00000508657;ENST00000309755;ENST00000541417;ENST00000505853;ENST00000394937	T;T;T;T;T;T	0.69435	-0.4;-0.4;-0.4;-0.4;-0.4;-0.4	4.65	1.9	0.25705	BTB/Kelch-associated (2);	0.050650	0.85682	D	0.000000	T	0.66577	0.2803	L	0.28344	0.845	0.58432	D	0.999999	B;B;D	0.57257	0.037;0.037;0.979	B;B;D	0.64877	0.098;0.098;0.93	T	0.65307	-0.6200	10	0.62326	D	0.03	.	9.5072	0.39053	0.0:0.7711:0.0:0.2289	.	164;204;204	D6RH21;Q9UH77;Q8N4I8	.;KLHL3_HUMAN;.	N	122;172;204;84;164;204	ENSP00000424828:K122N;ENSP00000422099:K172N;ENSP00000312397:K204N;ENSP00000440319:K84N;ENSP00000426173:K164N;ENSP00000378395:K204N	ENSP00000312397:K204N	K	-	3	2	KLHL3	137041157	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	1.281000	0.33214	0.293000	0.22520	0.557000	0.71058	AAG		0.493	KLHL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251220.2			39	51	1	0	2.00842e-17	1	2.21064e-17	39	51					A	137013258	C	A	137013258	3	1	435	1	0	0	0	0	1	0	0	0	8383	796	28	5	1191	5	KLHL3	5	137013258	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	688969	137013258	43902002	2797	23722											
MYOT	9499	broad.mit.edu	37	chr5	137217729	137217729	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggagaaattttacccaccaCgtttcattcaagtgccagag	13	10	8	10	1	2	2	2	0	0	2	2	3	2	2	3	1	2	1	3	1	3	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:137217729C>T	ENST00000239926.4	+	6	1125	c.751C>T	c.(751-753)Cgt>Tgt	p.R251C	RP11-381K20.2_ENST00000514616.1_RNA|MYOT_ENST00000515645.1_Missense_Mutation_p.R136C|MYOT_ENST00000509812.1_Intron|RP11-381K20.2_ENST00000508281.2_RNA|MYOT_ENST00000421631.2_Missense_Mutation_p.R67C	NM_006790.2	NP_006781	Q9UBF9	MYOTI_HUMAN	myotilin	251	Ig-like C2-type 1.|Necessary for interaction with ACTA1.|Necessary for interaction with FLNC.				muscle contraction (GO:0006936)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	structural constituent of muscle (GO:0008307)	p.R251S(1)		cervix(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	23			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			TTACCCACCACGTTTCATTCA	0.398																																						ENST00000239926.4																			1	Substitution - Missense(1)	p.R251S(1)	lung(1)	cervix(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	23						c.(751-753)Cgt>Tgt		myotilin							114	112	113					5																	137217729		2203	4300	6503	SO:0001583	missense	9499				muscle contraction	actin cytoskeleton|sarcolemma|sarcomere	actin binding|structural constituent of muscle	g.chr5:137217729C>T	AF133820	CCDS4194.1, CCDS47268.1, CCDS75309.1	5q31.2	2014-09-17	2005-09-07	2005-09-07	ENSG00000120729	ENSG00000120729		"Immunoglobulin superfamily / I-set domain containing"	12399	protein-coding gene	gene with protein product		604103	"titin immunoglobulin domain protein (myotilin)", "limb-girdle muscular dystrophy 1A (autosomal dominant)"	TTID, LGMD1A, LGMD1		10486214, 10369880	Standard	NM_006790		Approved		uc003lbv.3	Q9UBF9	OTTHUMG00000129154	ENST00000239926.4:c.751C>T	5.37:g.137217729C>T	ENSP00000239926:p.Arg251Cys					MYOT_ENST00000421631.2_Missense_Mutation_p.R67C|RP11-381K20.2_ENST00000514616.1_RNA|MYOT_ENST00000515645.1_Missense_Mutation_p.R136C|MYOT_ENST00000509812.1_Intron	p.R251C	NM_006790.2	NP_006781.1	Q9UBF9	MYOTI_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)		6	1125	+			251			Ig-like C2-type 1.|Necessary for interaction with ACTA1.|Necessary for interaction with FLNC.		A0A4R6|B4DT79	Missense_Mutation	SNP	ENST00000239926.4	37	c.751C>T	CCDS4194.1	.	.	.	.	.	.	.	.	.	.	C	26.7	4.766597	0.90020	.	.	ENSG00000120729	ENST00000239926;ENST00000421631;ENST00000515645	T;T;T	0.68479	-0.33;-0.33;-0.33	5.65	5.65	0.86999	Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000002	D	0.83464	0.5260	M	0.86651	2.83	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.85115	0.0965	10	0.54805	T	0.06	.	14.5573	0.68109	0.1463:0.8537:0.0:0.0	.	251	Q9UBF9	MYOTI_HUMAN	C	251;67;136	ENSP00000239926:R251C;ENSP00000391185:R67C;ENSP00000426281:R136C	ENSP00000239926:R251C	R	+	1	0	MYOT	137245628	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.748000	0.68697	2.669000	0.90835	0.467000	0.42956	CGT		0.398	MYOT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251219.2	NM_006790		23	31	0	0	0	1	0	23	31					T	137217729	C	T	137217729	3	4	435	1	0	0	0	0	1	0	0	0	10094	536	19	1	769	1	MYOT	5	137217729	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	204471	137217729	43697531	2798	23723											
FAM13B	51306	broad.mit.edu	37	chr5	137284782	137284782	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tcattctcttcatcttcatgGtctagagaagagccaaagct	11	13	7	10	0	6	2	3	0	3	2	7	3	6	2	1	1	2	1	1	1	3	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:137284782G>A	ENST00000033079.3	-	17	2407	c.1956C>T	c.(1954-1956)gaC>gaT	p.D652D	FAM13B_ENST00000425075.2_Silent_p.D556D|FAM13B_ENST00000420893.2_Silent_p.D652D	NM_016603.2	NP_057687.2	Q9NYF5	FA13B_HUMAN	family with sequence similarity 13, member B	652					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)			endometrium(4)|kidney(2)|lung(5)	11						CATCTTCATGGTCTAGAGAAG	0.383																																						ENST00000033079.3																			0				endometrium(4)|kidney(2)|lung(5)	11						c.(1954-1956)gaC>gaT		family with sequence similarity 13, member B							176	167	170					5																	137284782		2203	4300	6503	SO:0001819	synonymous_variant	0				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	g.chr5:137284782G>A	AF251038	CCDS4195.1, CCDS47269.1, CCDS47270.1	5q31	2011-09-07	2009-01-20	2009-01-20	ENSG00000031003	ENSG00000031003		"Rho GTPase activating proteins"	1335	protein-coding gene	gene with protein product		609371	"chromosome 5 open reading frame 5", "family with sequence similarity 13, member B1"	C5orf5, FAM13B1		11087669, 11161817	Standard	NM_016603		Approved	N61, KHCHP, ARHGAP49	uc003lbz.2	Q9NYF5	OTTHUMG00000129202	ENST00000033079.3:c.1956C>T	5.37:g.137284782G>A						FAM13B_ENST00000425075.2_Silent_p.D556D|FAM13B_ENST00000420893.2_Silent_p.D652D	p.D652D	NM_016603.2	NP_057687.2	Q9NYF5	FA13B_HUMAN			17	2407	-			652					D3DQB5|G3V0H9|Q3ZCR0|Q6PGQ2|Q9P0I7	Silent	SNP	ENST00000033079.3	37	c.1956C>T	CCDS4195.1																																																																																				0.383	FAM13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251279.1			55	77	0	0	0	1	0	55	77					A	137284782	G	A	137284782	2	1	435	1	0	0	0	0	0	0	0	1	5453	1252	44	3		3	FAM13B	5	137284782	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	67053	137284782	43630478	2799	23724											
FAM13B	51306	broad.mit.edu	37	chr5	137288395	137288395	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcagcaatatcactgtaggAgggctgaaaaattatggagc	14	8	13	6	0	1	1	1	1	0	0	1	3	1	3	0	4	2	4	0	4	6	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:137288395A>T	ENST00000033079.3	-	16	2237	c.1786T>A	c.(1786-1788)Tcc>Acc	p.S596T	FAM13B_ENST00000425075.2_Missense_Mutation_p.S500T|FAM13B_ENST00000420893.2_Missense_Mutation_p.S596T	NM_016603.2	NP_057687.2	Q9NYF5	FA13B_HUMAN	family with sequence similarity 13, member B	596					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)			endometrium(4)|kidney(2)|lung(5)	11						TCACTGTAGGAGGGCTGAAAA	0.348																																						ENST00000033079.3																			0				endometrium(4)|kidney(2)|lung(5)	11						c.(1786-1788)Tcc>Acc		family with sequence similarity 13, member B							94	99	97					5																	137288395		2203	4300	6503	SO:0001583	missense	0				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	g.chr5:137288395A>T	AF251038	CCDS4195.1, CCDS47269.1, CCDS47270.1	5q31	2011-09-07	2009-01-20	2009-01-20	ENSG00000031003	ENSG00000031003		"Rho GTPase activating proteins"	1335	protein-coding gene	gene with protein product		609371	"chromosome 5 open reading frame 5", "family with sequence similarity 13, member B1"	C5orf5, FAM13B1		11087669, 11161817	Standard	NM_016603		Approved	N61, KHCHP, ARHGAP49	uc003lbz.2	Q9NYF5	OTTHUMG00000129202	ENST00000033079.3:c.1786T>A	5.37:g.137288395A>T	ENSP00000033079:p.Ser596Thr					FAM13B_ENST00000425075.2_Missense_Mutation_p.S500T|FAM13B_ENST00000420893.2_Missense_Mutation_p.S596T	p.S596T	NM_016603.2	NP_057687.2	Q9NYF5	FA13B_HUMAN			16	2237	-			596					D3DQB5|G3V0H9|Q3ZCR0|Q6PGQ2|Q9P0I7	Missense_Mutation	SNP	ENST00000033079.3	37	c.1786T>A	CCDS4195.1	.	.	.	.	.	.	.	.	.	.	A	20.5	4.003730	0.74932	.	.	ENSG00000031003	ENST00000033079;ENST00000425075;ENST00000420893	D;T;D	0.95342	-3.68;0.88;-3.68	6.05	6.05	0.98169	.	0.055632	0.85682	D	0.000000	D	0.93756	0.8004	L	0.56769	1.78	0.58432	D	0.999994	D;P;P	0.57571	0.98;0.607;0.816	P;B;B	0.49047	0.599;0.146;0.289	D	0.92739	0.6206	10	0.39692	T	0.17	-3.156	11.3614	0.49646	0.8646:0.0:0.0:0.1354	.	500;596;596	G3V0H9;Q9NYF5-2;Q9NYF5	.;.;FA13B_HUMAN	T	596;500;596	ENSP00000033079:S596T;ENSP00000394669:S500T;ENSP00000388521:S596T	ENSP00000033079:S596T	S	-	1	0	FAM13B	137316294	1.000000	0.71417	1.000000	0.80357	0.878000	0.50629	6.165000	0.71891	2.311000	0.77944	0.528000	0.53228	TCC		0.348	FAM13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251279.1			39	58	0	0	0	1	0	39	58					T	137288395	A	T	137288395	3	4	435	1	0	0	0	0	1	0	0	0	5453	304	11	5	993	5	FAM13B	5	137288395	Missense_Mutation	SNP	A	TCGA-XK-AAIW-01A-11D-A41K-08	3613	137288395	43626865	2800	23725											
KIF20A	10112	broad.mit.edu	37	chr5	137520619	137520619	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tggtagaacagatgcaacagCgggaacagtggtgcaggtac	13	6	15	7	1	0	2	0	0	0	2	0	3	0	3	0	4	7	4	0	4	5	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:137520619C>T	ENST00000394894.3	+	14	2033	c.1807C>T	c.(1807-1809)Cgg>Tgg	p.R603W	KIF20A_ENST00000508792.1_Missense_Mutation_p.R585W	NM_005733.2	NP_005724.1	O95235	KI20A_HUMAN	kinesin family member 20A	603					ATP catabolic process (GO:0006200)|cytokinesis (GO:0000910)|metabolic process (GO:0008152)|microtubule bundle formation (GO:0001578)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	Golgi apparatus (GO:0005794)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|nucleoplasm (GO:0005654)|spindle (GO:0005819)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|protein kinase binding (GO:0019901)|transporter activity (GO:0005215)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|liver(2)|lung(9)|prostate(2)|upper_aerodigestive_tract(1)	27			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			GATGCAACAGCGGGAACAGTG	0.493																																						ENST00000394894.3																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|liver(2)|lung(9)|prostate(2)|upper_aerodigestive_tract(1)	27						c.(1807-1809)Cgg>Tgg		kinesin family member 20A							127	123	124					5																	137520619		2203	4300	6503	SO:0001583	missense	10112				cytokinesis|M phase of mitotic cell cycle|microtubule-based movement|protein transport|vesicle-mediated transport	Golgi apparatus|microtubule|nucleoplasm	ATP binding|microtubule motor activity|protein binding|transporter activity	g.chr5:137520619C>T	AF070672	CCDS4199.1	5q31	2008-02-05	2003-01-13	2003-01-17	ENSG00000112984	ENSG00000112984		"Kinesins"	9787	protein-coding gene	gene with protein product		605664	"RAB6 interacting, kinesin-like (rabkinesin6)"	RAB6KIFL		11416179, 10806357	Standard	NM_005733		Approved		uc003lcj.3	O95235	OTTHUMG00000129195	ENST00000394894.3:c.1807C>T	5.37:g.137520619C>T	ENSP00000378356:p.Arg603Trp					KIF20A_ENST00000508792.1_Missense_Mutation_p.R585W	p.R603W	NM_005733.2	NP_005724.1	O95235	KI20A_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)		14	2033	+			603					B4DL79|D3DQB6	Missense_Mutation	SNP	ENST00000394894.3	37	c.1807C>T	CCDS4199.1	.	.	.	.	.	.	.	.	.	.	C	16.85	3.236408	0.58886	.	.	ENSG00000112984	ENST00000394894;ENST00000508792	T;T	0.72051	-0.6;-0.62	5.41	4.54	0.55810	.	0.000000	0.38217	N	0.001770	T	0.76018	0.3929	L	0.50333	1.59	0.30883	N	0.731206	D;D	0.76494	0.997;0.999	P;P	0.57468	0.821;0.798	T	0.78270	-0.2269	10	0.62326	D	0.03	-18.4055	13.7355	0.62815	0.3311:0.6688:0.0:0.0	.	585;603	B4DL79;O95235	.;KI20A_HUMAN	W	603;585	ENSP00000378356:R603W;ENSP00000420880:R585W	ENSP00000378356:R603W	R	+	1	2	KIF20A	137548518	0.991000	0.36638	0.943000	0.38184	0.994000	0.84299	2.502000	0.45398	1.498000	0.48600	0.557000	0.71058	CGG		0.493	KIF20A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251272.1	NM_005733		33	41	0	0	0	1	0	33	41					T	137520619	C	T	137520619	3	4	435	1	0	0	0	0	1	0	0	0	8286	759	27	1	1857	1	KIF20A	5	137520619	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	232224	137520619	43394641	2801	23726											
CDC23	8697	broad.mit.edu	37	chr5	137533941	137533941	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caatctcacagaggttatgaGccagataactcaactccgat	14	9	7	11	1	2	3	2	1	1	2	4	4	3	3	2	1	3	1	2	1	4	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:137533941G>A	ENST00000394886.2	-	9	989	c.959C>T	c.(958-960)gCt>gTt	p.A320V		NM_004661.3	NP_004652.2	Q9UJX2	CDC23_HUMAN	cell division cycle 23	320					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cell cycle (GO:0000278)|mitotic metaphase plate congression (GO:0007080)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of exit from mitosis (GO:0007096)|regulation of mitotic metaphase/anaphase transition (GO:0030071)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|ubiquitin-dependent protein catabolic process (GO:0006511)	anaphase-promoting complex (GO:0005680)|cytosol (GO:0005829)|intracellular (GO:0005622)|nucleoplasm (GO:0005654)	ubiquitin-protein transferase activity (GO:0004842)			autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(6)|prostate(2)|skin(1)	23			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			GAGGTTATGAGCCAGATAACT	0.294																																						ENST00000394886.2																			0				autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(6)|prostate(2)|skin(1)	23						c.(958-960)gCt>gTt		cell division cycle 23							88	94	92					5																	137533941		2203	4300	6503	SO:0001583	missense	8697				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|G1 phase of mitotic cell cycle|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase plate congression|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination|regulation of exit from mitosis	anaphase-promoting complex|cytosol|nucleoplasm	binding|ubiquitin-protein ligase activity	g.chr5:137533941G>A	AF053977	CCDS4200.2	5q31	2013-01-17	2013-01-17		ENSG00000094880	ENSG00000094880		"Anaphase promoting complex subunits", "Tetratricopeptide (TTC) repeat domain containing"	1724	protein-coding gene	gene with protein product	"anaphase promoting complex subunit 8"	603462	"CDC23 (cell division cycle 23, yeast, homolog)", "cell division cycle 23 homolog (S. cerevisiae)"			9790767	Standard	NM_004661		Approved	APC8, ANAPC8, CUT23	uc003lcl.3	Q9UJX2	OTTHUMG00000129198	ENST00000394886.2:c.959C>T	5.37:g.137533941G>A	ENSP00000378350:p.Ala320Val						p.A320V	NM_004661.3	NP_004652.2	Q9UJX2	CDC23_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)		9	989	-			320					A8K6E5|B4E3A2|B7WP05|D3DQB7|O75433|Q53FN2|Q9BS73	Missense_Mutation	SNP	ENST00000394886.2	37	c.959C>T	CCDS4200.2	.	.	.	.	.	.	.	.	.	.	G	28.3	4.905147	0.92035	.	.	ENSG00000094880	ENST00000394886	T	0.59502	0.26	5.28	5.28	0.74379	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.85682	D	0.000000	T	0.82176	0.4980	M	0.92604	3.325	0.80722	D	1	D	0.65815	0.995	D	0.72338	0.977	D	0.85835	0.1394	10	0.66056	D	0.02	-11.7325	19.1093	0.93310	0.0:0.0:1.0:0.0	.	320	Q9UJX2	CDC23_HUMAN	V	320	ENSP00000378350:A320V	ENSP00000378350:A320V	A	-	2	0	CDC23	137561840	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.081000	0.94049	2.748000	0.94277	0.462000	0.41574	GCT		0.294	CDC23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251275.2			36	78	0	0	0	1	0	36	78					A	137533941	G	A	137533941	3	1	435	1	0	0	0	0	1	0	0	0	3061	971	34	3	866	3	CDC23	5	137533941	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	13322	137533941	43381319	2802	23727											
CDC23	8697	broad.mit.edu	37	chr5	137548685	137548685	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	taaacatgtccttacctctgTaataggcggaggcggttgca	10	11	11	9	2	1	0	0	0	1	0	2	1	2	1	2	4	3	3	2	4	5	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:137548685T>C	ENST00000394886.2	-	2	259	c.229A>G	c.(229-231)Aca>Gca	p.T77A	CDC23_ENST00000505120.1_Missense_Mutation_p.T77A|CDC23_ENST00000394884.3_Missense_Mutation_p.T77A	NM_004661.3	NP_004652.2	Q9UJX2	CDC23_HUMAN	cell division cycle 23	77					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cell cycle (GO:0000278)|mitotic metaphase plate congression (GO:0007080)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of exit from mitosis (GO:0007096)|regulation of mitotic metaphase/anaphase transition (GO:0030071)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|ubiquitin-dependent protein catabolic process (GO:0006511)	anaphase-promoting complex (GO:0005680)|cytosol (GO:0005829)|intracellular (GO:0005622)|nucleoplasm (GO:0005654)	ubiquitin-protein transferase activity (GO:0004842)			autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(6)|prostate(2)|skin(1)	23			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			CTTACCTCTGTAATAGGCGGA	0.572																																						ENST00000394886.2																			0				autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(6)|prostate(2)|skin(1)	23						c.(229-231)Aca>Gca		cell division cycle 23							76	78	77					5																	137548685		2203	4300	6503	SO:0001583	missense	8697				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|G1 phase of mitotic cell cycle|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase plate congression|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination|regulation of exit from mitosis	anaphase-promoting complex|cytosol|nucleoplasm	binding|ubiquitin-protein ligase activity	g.chr5:137548685T>C	AF053977	CCDS4200.2	5q31	2013-01-17	2013-01-17		ENSG00000094880	ENSG00000094880		"Anaphase promoting complex subunits", "Tetratricopeptide (TTC) repeat domain containing"	1724	protein-coding gene	gene with protein product	"anaphase promoting complex subunit 8"	603462	"CDC23 (cell division cycle 23, yeast, homolog)", "cell division cycle 23 homolog (S. cerevisiae)"			9790767	Standard	NM_004661		Approved	APC8, ANAPC8, CUT23	uc003lcl.3	Q9UJX2	OTTHUMG00000129198	ENST00000394886.2:c.229A>G	5.37:g.137548685T>C	ENSP00000378350:p.Thr77Ala					CDC23_ENST00000394884.3_Missense_Mutation_p.T77A|CDC23_ENST00000505120.1_Missense_Mutation_p.T77A	p.T77A	NM_004661.3	NP_004652.2	Q9UJX2	CDC23_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)		2	259	-			77					A8K6E5|B4E3A2|B7WP05|D3DQB7|O75433|Q53FN2|Q9BS73	Missense_Mutation	SNP	ENST00000394886.2	37	c.229A>G	CCDS4200.2	.	.	.	.	.	.	.	.	.	.	T	22.0	4.233290	0.79688	.	.	ENSG00000094880	ENST00000394886;ENST00000394884;ENST00000505120	T;T;T	0.47528	0.98;0.98;0.84	5.93	5.93	0.95920	Cdc23 (1);	0.000000	0.85682	D	0.000000	T	0.54983	0.1892	L	0.28694	0.88	0.80722	D	1	D;B	0.89917	1.0;0.05	D;B	0.83275	0.996;0.055	T	0.47195	-0.9136	10	0.12103	T	0.63	-12.2552	16.0558	0.80805	0.0:0.0:0.0:1.0	.	77;77	Q9UJX2-2;Q9UJX2	.;CDC23_HUMAN	A	77	ENSP00000378350:T77A;ENSP00000378348:T77A;ENSP00000423704:T77A	ENSP00000378348:T77A	T	-	1	0	CDC23	137576584	1.000000	0.71417	0.891000	0.34965	0.746000	0.42486	5.794000	0.69067	2.281000	0.76405	0.533000	0.62120	ACA		0.572	CDC23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251275.2			11	33	0	0	0	1	0	11	33					C	137548685	T	C	137548685	3	2	435	1	0	0	0	0	1	0	0	0	3061	1638	57	4	1624	4	CDC23	5	137548685	Missense_Mutation	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	14744	137548685	43366575	2803	23728											
KDM3B	51780	broad.mit.edu	37	chr5	137717276	137717276	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gataattcagcgcctcaaagCgaggtacagtaatggactgc	13	8	11	9	2	2	0	2	0	0	0	2	3	2	1	1	2	4	2	1	2	4	4	rs367814427		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:137717276C>T	ENST00000314358.5	+	6	977	c.777C>T	c.(775-777)agC>agT	p.S259S		NM_016604.3	NP_057688	Q7LBC6	KDM3B_HUMAN	lysine (K)-specific demethylase 3B	259					chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(15)|liver(2)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	65						CGCCTCAAAGCGAGGTACAGT	0.428																																						ENST00000314358.5																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(15)|liver(2)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	65						c.(775-777)agC>agT		lysine (K)-specific demethylase 3B		C		0,4406		0,0,2203	122	105	111		777	-4.9	0.6	5		111	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	KDM3B	NM_016604.3		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		259/1762	137717276	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	51780				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr5:137717276C>T	AF251039	CCDS34242.1	5q31	2011-07-01	2009-04-06	2009-04-06	ENSG00000120733	ENSG00000120733		"Chromatin-modifying enzymes / K-demethylases"	1337	protein-coding gene	gene with protein product		609373	"chromosome 5 open reading frame 7", "jumonji domain containing 1B"	C5orf7, JMJD1B		15138608	Standard	NM_016604		Approved	KIAA1082, NET22	uc003lcy.1	Q7LBC6	OTTHUMG00000163469	ENST00000314358.5:c.777C>T	5.37:g.137717276C>T							p.S259S	NM_016604.3	NP_057688.2	Q7LBC6	KDM3B_HUMAN			6	977	+			259					A6H8X7|Q9BVH6|Q9BW93|Q9BZ52|Q9NYF4|Q9UPS0	Silent	SNP	ENST00000314358.5	37	c.777C>T	CCDS34242.1																																																																																				0.428	KDM3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373597.1	NM_016604		20	19	0	0	0	1	0	20	19					T	137717276	C	T	137717276	2	4	435	1	0	0	0	0	0	0	0	1	8127	767	27	1		1	KDM3B	5	137717276	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	168591	137717276	43197984	2804	23729											
EGR1	1958	broad.mit.edu	37	chr5	137803153	137803153	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccccccacgaacgcccttacGcttgcccagtggagtcctgt	6	8	9	18	3	0	0	0	0	0	0	1	2	1	1	6	1	3	1	6	1	2	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:137803153G>A	ENST00000239938.4	+	2	1287	c.1015G>A	c.(1015-1017)Gct>Act	p.A339T		NM_001964.2	NP_001955.1	P18146	EGR1_HUMAN	early growth response 1	339					BMP signaling pathway (GO:0030509)|cellular response to antibiotic (GO:0071236)|cellular response to cAMP (GO:0071320)|cellular response to drug (GO:0035690)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to gamma radiation (GO:0071480)|cellular response to gonadotropin stimulus (GO:0071371)|cellular response to growth factor stimulus (GO:0071363)|cellular response to heparin (GO:0071504)|cellular response to hyperoxia (GO:0071455)|cellular response to hypoxia (GO:0071456)|cellular response to insulin stimulus (GO:0032869)|cellular response to isoquinoline alkaloid (GO:0071317)|cellular response to mechanical stimulus (GO:0071260)|cellular response to mycophenolic acid (GO:0071506)|cellular response to steroid hormone stimulus (GO:0071383)|circadian rhythm (GO:0007623)|cytokine-mediated signaling pathway (GO:0019221)|glomerular mesangial cell proliferation (GO:0072110)|interleukin-1-mediated signaling pathway (GO:0070498)|learning or memory (GO:0007611)|long-term synaptic potentiation (GO:0060291)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|oligodendrocyte differentiation (GO:0048709)|positive regulation of glomerular metanephric mesangial cell proliferation (GO:0072303)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of protein sumoylation (GO:0033233)|response to amphetamine (GO:0001975)|response to carbon monoxide (GO:0034465)|response to cocaine (GO:0042220)|response to electrical stimulus (GO:0051602)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to norepinephrine (GO:0071873)|response to nutrient levels (GO:0031667)|skeletal muscle cell differentiation (GO:0035914)|T cell differentiation (GO:0030217)|transcription from RNA polymerase II promoter (GO:0006366)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|histone acetyltransferase binding (GO:0035035)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|ovary(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			ACGCCCTTACGCTTGCCCAGT	0.647																																						ENST00000239938.4																			0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|ovary(1)	6						c.(1015-1017)Gct>Act		early growth response 1							81	88	85					5																	137803153		2203	4300	6503	SO:0001583	missense	1958				cellular response to heparin|cellular response to mycophenolic acid|glomerular mesangial cell proliferation|interleukin-1-mediated signaling pathway|positive regulation of glomerular metanephric mesangial cell proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of protein sumoylation|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	cytoplasm|nucleus	histone acetyltransferase binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr5:137803153G>A	M62829	CCDS4206.1	5q23-q31	2013-01-08			ENSG00000120738	ENSG00000120738		"Zinc fingers, C2H2-type"	3238	protein-coding gene	gene with protein product	"nerve growth factor-induced protein A", "transcription factor ETR103", "zinc finger protein 225", "early growth response protein 1"	128990				3127059	Standard	NM_001964		Approved	TIS8, G0S30, NGFI-A, KROX-24, ZIF-268, AT225, ZNF225	uc003ldb.1	P18146	OTTHUMG00000129197	ENST00000239938.4:c.1015G>A	5.37:g.137803153G>A	ENSP00000239938:p.Ala339Thr						p.A339T	NM_001964.2	NP_001955.1	P18146	EGR1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)		2	1287	+			339						Missense_Mutation	SNP	ENST00000239938.4	37	c.1015G>A	CCDS4206.1	.	.	.	.	.	.	.	.	.	.	G	15.17	2.752785	0.49362	.	.	ENSG00000120738	ENST00000239938	T	0.14893	2.47	4.2	4.2	0.49525	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.055116	0.64402	D	0.000001	T	0.40979	0.1139	M	0.79693	2.465	0.80722	D	1	D	0.71674	0.998	P	0.60473	0.875	T	0.49041	-0.8980	10	0.87932	D	0	-22.9435	15.72	0.77700	0.0:0.0:1.0:0.0	.	339	P18146	EGR1_HUMAN	T	339	ENSP00000239938:A339T	ENSP00000239938:A339T	A	+	1	0	EGR1	137831052	1.000000	0.71417	0.965000	0.40720	0.636000	0.38137	6.372000	0.73123	2.177000	0.69029	0.563000	0.77884	GCT		0.647	EGR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251274.1	NM_001964		22	35	0	0	0	1	0	22	35					A	137803153	G	A	137803153	3	1	435	1	0	0	0	0	1	0	0	0	4971	1087	38	1	1021	1	EGR1	5	137803153	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	85877	137803153	43112107	2805	23730											
EGR1	1958	broad.mit.edu	37	chr5	137803314	137803314	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacatccgcacccacacaggCgaaaagcccttcgcctgcga	11	4	8	18	4	0	0	0	0	0	0	2	2	1	0	4	1	2	1	4	1	2	1	rs199707977		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:137803314C>T	ENST00000239938.4	+	2	1448	c.1176C>T	c.(1174-1176)ggC>ggT	p.G392G		NM_001964.2	NP_001955.1	P18146	EGR1_HUMAN	early growth response 1	392					BMP signaling pathway (GO:0030509)|cellular response to antibiotic (GO:0071236)|cellular response to cAMP (GO:0071320)|cellular response to drug (GO:0035690)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to gamma radiation (GO:0071480)|cellular response to gonadotropin stimulus (GO:0071371)|cellular response to growth factor stimulus (GO:0071363)|cellular response to heparin (GO:0071504)|cellular response to hyperoxia (GO:0071455)|cellular response to hypoxia (GO:0071456)|cellular response to insulin stimulus (GO:0032869)|cellular response to isoquinoline alkaloid (GO:0071317)|cellular response to mechanical stimulus (GO:0071260)|cellular response to mycophenolic acid (GO:0071506)|cellular response to steroid hormone stimulus (GO:0071383)|circadian rhythm (GO:0007623)|cytokine-mediated signaling pathway (GO:0019221)|glomerular mesangial cell proliferation (GO:0072110)|interleukin-1-mediated signaling pathway (GO:0070498)|learning or memory (GO:0007611)|long-term synaptic potentiation (GO:0060291)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|oligodendrocyte differentiation (GO:0048709)|positive regulation of glomerular metanephric mesangial cell proliferation (GO:0072303)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of protein sumoylation (GO:0033233)|response to amphetamine (GO:0001975)|response to carbon monoxide (GO:0034465)|response to cocaine (GO:0042220)|response to electrical stimulus (GO:0051602)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to norepinephrine (GO:0071873)|response to nutrient levels (GO:0031667)|skeletal muscle cell differentiation (GO:0035914)|T cell differentiation (GO:0030217)|transcription from RNA polymerase II promoter (GO:0006366)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|histone acetyltransferase binding (GO:0035035)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|ovary(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			CCCACACAGGCGAAAAGCCCT	0.582																																						ENST00000239938.4																			0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|ovary(1)	6						c.(1174-1176)ggC>ggT		early growth response 1							81	82	81					5																	137803314		2203	4300	6503	SO:0001819	synonymous_variant	1958				cellular response to heparin|cellular response to mycophenolic acid|glomerular mesangial cell proliferation|interleukin-1-mediated signaling pathway|positive regulation of glomerular metanephric mesangial cell proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of protein sumoylation|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	cytoplasm|nucleus	histone acetyltransferase binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr5:137803314C>T	M62829	CCDS4206.1	5q23-q31	2013-01-08			ENSG00000120738	ENSG00000120738		"Zinc fingers, C2H2-type"	3238	protein-coding gene	gene with protein product	"nerve growth factor-induced protein A", "transcription factor ETR103", "zinc finger protein 225", "early growth response protein 1"	128990				3127059	Standard	NM_001964		Approved	TIS8, G0S30, NGFI-A, KROX-24, ZIF-268, AT225, ZNF225	uc003ldb.1	P18146	OTTHUMG00000129197	ENST00000239938.4:c.1176C>T	5.37:g.137803314C>T							p.G392G	NM_001964.2	NP_001955.1	P18146	EGR1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)		2	1448	+			392						Silent	SNP	ENST00000239938.4	37	c.1176C>T	CCDS4206.1																																																																																				0.582	EGR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251274.1	NM_001964		25	42	0	0	0	1	0	25	42					T	137803314	C	T	137803314	2	4	435	1	0	0	0	0	0	0	0	1	4971	755	27	1		1	EGR1	5	137803314	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	161	137803314	43111946	2806	23731											
ETF1	2107	broad.mit.edu	37	chr5	137848593	137848593	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tttccgaacatagttatgtcGcttttccattcttaaacggg	9	16	7	9	3	1	0	0	0	1	0	4	1	3	0	2	1	2	2	2	1	5	7			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:137848593G>A	ENST00000360541.5	-	6	813	c.592C>T	c.(592-594)Cga>Tga	p.R198*	ETF1_ENST00000499810.2_Nonsense_Mutation_p.R165*|ETF1_ENST00000503014.1_Nonsense_Mutation_p.R184*	NM_004730.3	NP_004721.1	P62495	ERF1_HUMAN	eukaryotic translation termination factor 1	198					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|protein methylation (GO:0006479)|regulation of translational termination (GO:0006449)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational termination (GO:0006415)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	poly(A) RNA binding (GO:0044822)|ribosome binding (GO:0043022)|RNA binding (GO:0003723)|translation release factor activity (GO:0003747)|translation release factor activity, codon specific (GO:0016149)|translation termination factor activity (GO:0008079)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)|urinary_tract(1)	18			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			TAGTTATGTCGCTTTTCCATT	0.433																																						ENST00000499810.2																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)|urinary_tract(1)	18						c.(493-495)Cga>Tga		eukaryotic translation termination factor 1							88	86	87					5																	137848593		2203	4300	6503	SO:0001587	stop_gained	2107				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|protein methylation|regulation of translational termination	cytoplasm	protein binding|ribosome binding|translation release factor activity, codon specific	g.chr5:137848593G>A	AF095901	CCDS4207.1, CCDS75313.1, CCDS75314.1	5q31.2	2008-02-05			ENSG00000120705	ENSG00000120705			3477	protein-coding gene	gene with protein product	"sup45 (yeast omnipotent suppressor 45) homolog-like 1", "polypeptide chain release factor 1"	600285		SUP45L1, ERF1, ERF		1546371, 7990965	Standard	NM_004730		Approved	eRF1, TB3-1, RF1	uc003ldc.5	P62495	OTTHUMG00000129199	ENST00000360541.5:c.592C>T	5.37:g.137848593G>A	ENSP00000353741:p.Arg198*					ETF1_ENST00000360541.5_Nonsense_Mutation_p.R198*|ETF1_ENST00000503014.1_Nonsense_Mutation_p.R184*	p.R165*			P62495	ERF1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)		6	941	-			198					B2R6B4|D3DQC1|P46055|Q5M7Z7|Q96CG1	Nonsense_Mutation	SNP	ENST00000360541.5	37	c.493C>T	CCDS4207.1	.	.	.	.	.	.	.	.	.	.	G	33	5.281809	0.95489	.	.	ENSG00000120705	ENST00000499810;ENST00000360541;ENST00000503014	.	.	.	5.38	4.51	0.55191	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-5.078	15.3389	0.74282	0.0:0.0:0.8596:0.1404	.	.	.	.	X	165;198;184	.	ENSP00000353741:R198X	R	-	1	2	ETF1	137876492	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.241000	0.51376	1.239000	0.43787	0.655000	0.94253	CGA		0.433	ETF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251276.2	NM_004730		34	28	0	0	0	1	0	34	28					A	137848593	G	A	137848593	4	1	435	1	0	0	0	0	0	1	0	0	5268	1095	38	1	745	1	ETF1	5	137848593	Nonsense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	45279	137848593	43066667	2807	23732											
CTNNA1	1495	broad.mit.edu	37	chr5	138118999	138118999	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggagaagggggataaaattgCgaaggagagccagtttctca	14	7	15	5	1	1	2	1	0	1	2	2	6	1	3	1	4	2	1	1	4	4	3	rs200135015		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:138118999C>T	ENST00000302763.7	+	3	329	c.239C>T	c.(238-240)gCg>gTg	p.A80V	CTNNA1_ENST00000518825.1_Missense_Mutation_p.A80V|CTNNA1_ENST00000355078.5_Intron	NM_001903.2	NP_001894.2	P35221	CTNA1_HUMAN	catenin (cadherin-associated protein), alpha 1, 102kDa	80	Involved in homodimerization.				adherens junction organization (GO:0034332)|aging (GO:0007568)|apical junction assembly (GO:0043297)|axon regeneration (GO:0031103)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cellular protein localization (GO:0034613)|cellular response to indole-3-methanol (GO:0071681)|epithelial cell-cell adhesion (GO:0090136)|establishment or maintenance of cell polarity (GO:0007163)|gap junction assembly (GO:0016264)|male gonad development (GO:0008584)|muscle cell differentiation (GO:0042692)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell motility (GO:2000146)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of integrin-mediated signaling pathway (GO:2001045)|negative regulation of neuroblast proliferation (GO:0007406)|odontogenesis of dentin-containing tooth (GO:0042475)|ovarian follicle development (GO:0001541)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of smoothened signaling pathway (GO:0045880)|protein heterooligomerization (GO:0051291)|response to estrogen (GO:0043627)	acrosomal vesicle (GO:0001669)|actin cytoskeleton (GO:0015629)|catenin complex (GO:0016342)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|intercalated disc (GO:0014704)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|zonula adherens (GO:0005915)	beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|gamma-catenin binding (GO:0045295)|poly(A) RNA binding (GO:0044822)|structural molecule activity (GO:0005198)|vinculin binding (GO:0017166)			NS(1)|breast(7)|cervix(2)|endometrium(4)|kidney(6)|large_intestine(16)|lung(9)|oesophagus(2)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	52			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			GATAAAATTGCGAAGGAGAGC	0.453													C|||	1	0.000199681	0	0	5008	,	,		17476	0.001		0	False		,,,				2504	0					ENST00000302763.7																			0				NS(1)|breast(7)|cervix(2)|endometrium(4)|kidney(6)|large_intestine(16)|lung(9)|oesophagus(2)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	52						c.(238-240)gCg>gTg		catenin (cadherin-associated protein), alpha 1, 102kDa							99	98	98					5																	138118999		2203	4300	6503	SO:0001583	missense	1495				adherens junction organization|apical junction assembly|cell adhesion|cellular response to indole-3-methanol|muscle cell differentiation|positive regulation of muscle cell differentiation	actin cytoskeleton|catenin complex|cytosol	beta-catenin binding|cadherin binding|gamma-catenin binding|structural molecule activity|vinculin binding	g.chr5:138118999C>T	D13866	CCDS34243.1, CCDS75315.1	5q31.2	2008-02-05	2002-08-29			ENSG00000044115			2509	protein-coding gene	gene with protein product		116805	"catenin (cadherin-associated protein), alpha 1 (102kD)"			1924379	Standard	XM_005271898		Approved	CAP102	uc003ldh.3	P35221		ENST00000302763.7:c.239C>T	5.37:g.138118999C>T	ENSP00000304669:p.Ala80Val					CTNNA1_ENST00000518825.1_Missense_Mutation_p.A80V|CTNNA1_ENST00000355078.5_Intron	p.A80V	NM_001903.2	NP_001894.2	P35221	CTNA1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)		3	329	+			80			Involved in homodimerization.		Q12795|Q8N1C0	Missense_Mutation	SNP	ENST00000302763.7	37	c.239C>T	CCDS34243.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	35	5.576436	0.96565	.	.	ENSG00000044115	ENST00000517980;ENST00000522227;ENST00000524127;ENST00000523912;ENST00000520339;ENST00000302763;ENST00000537034;ENST00000541863;ENST00000519113;ENST00000520158;ENST00000518825	T;T;T;T;T;T;T;T;T	0.50001	1.34;1.34;1.34;1.54;1.34;0.76;1.54;0.76;0.76	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	T	0.53514	0.1801	M	0.74258	2.255	0.80722	D	1	P;D	0.52996	0.935;0.957	B;B	0.42495	0.168;0.389	T	0.57888	-0.7733	10	0.40728	T	0.16	-10.6819	19.4387	0.94809	0.0:1.0:0.0:0.0	.	80;80	G3XAM7;P35221	.;CTNA1_HUMAN	V	80	ENSP00000428439:A80V;ENSP00000429636:A80V;ENSP00000428049:A80V;ENSP00000430304:A80V;ENSP00000428202:A80V;ENSP00000304669:A80V;ENSP00000430078:A80V;ENSP00000429457:A80V;ENSP00000427821:A80V	ENSP00000304669:A80V	A	+	2	0	CTNNA1	138146898	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.776000	0.85560	2.699000	0.92147	0.555000	0.69702	GCG		0.453	CTNNA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373868.1	NM_001903		30	62	0	0	0	1	0	30	62					T	138118999	C	T	138118999	3	4	435	1	0	0	0	0	1	0	0	0	4012	768	27	1	245	1	CTNNA1	5	138118999	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	270406	138118999	42796261	2808	23733											
LRRTM2	26045	broad.mit.edu	37	chr5	138209844	138209844	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaaagacaggtccaaattttGcaggttaatcagttgggtaa	15	11	10	5	0	1	1	1	0	0	1	2	1	2	1	1	3	1	4	1	3	5	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:138209844G>A	ENST00000274711.6	-	2	784	c.406C>T	c.(406-408)Caa>Taa	p.Q136*	LRRTM2_ENST00000523537.1_Intron|CTNNA1_ENST00000540387.1_5'Flank|CTNNA1_ENST00000520400.1_Intron|LRRTM2_ENST00000521094.2_Intron|CTNNA1_ENST00000518825.1_Intron|CTNNA1_ENST00000355078.5_Intron|CTNNA1_ENST00000302763.7_Intron|LRRTM2_ENST00000518785.1_Intron	NM_015564.2	NP_056379.1	O43300	LRRT2_HUMAN	leucine rich repeat transmembrane neuronal 2	136					long-term synaptic potentiation (GO:0060291)|negative regulation of receptor internalization (GO:0002091)|synapse organization (GO:0050808)	cell junction (GO:0030054)|excitatory synapse (GO:0060076)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)				NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(1)|urinary_tract(1)	16			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			TCCAAATTTTGCAGGTTAATC	0.388																																						ENST00000274711.6																			0				NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(1)|urinary_tract(1)	16						c.(406-408)Caa>Taa		leucine rich repeat transmembrane neuronal 2							57	58	58					5																	138209844		1848	4092	5940	SO:0001587	stop_gained	26045					cell junction|integral to membrane|postsynaptic membrane		g.chr5:138209844G>A	AB007876	CCDS47272.1	5q31	2008-02-05				ENSG00000146006			19409	protein-coding gene	gene with protein product		610868				12676565	Standard	NM_015564		Approved	KIAA0416	uc011cyz.1	O43300		ENST00000274711.6:c.406C>T	5.37:g.138209844G>A	ENSP00000274711:p.Gln136*					CTNNA1_ENST00000518825.1_Intron|CTNNA1_ENST00000520400.1_Intron|LRRTM2_ENST00000521094.2_Intron|LRRTM2_ENST00000518785.1_Intron|LRRTM2_ENST00000523537.1_Intron|CTNNA1_ENST00000355078.5_Intron|CTNNA1_ENST00000302763.7_Intron	p.Q136*	NM_015564.2	NP_056379.1	O43300	LRRT2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)		2	784	-			136					A0AVL3|A8K4U9|B7ZLN8|Q7L770	Nonsense_Mutation	SNP	ENST00000274711.6	37	c.406C>T	CCDS47272.1	.	.	.	.	.	.	.	.	.	.	G	36	5.949931	0.97139	.	.	ENSG00000146006	ENST00000274711	.	.	.	5.49	5.49	0.81192	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.46703	T	0.11	.	19.1682	0.93565	0.0:0.0:1.0:0.0	.	.	.	.	X	136	.	ENSP00000274711:Q136X	Q	-	1	0	LRRTM2	138237743	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.631000	0.98424	2.865000	0.98341	0.655000	0.94253	CAA		0.388	LRRTM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374043.2			3	9	0	0	0	1	0	3	9					A	138209844	G	A	138209844	4	1	435	1	0	0	0	0	0	1	0	0	9040	1328	46	3	1148	3	LRRTM2	5	138209844	Nonsense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	90845	138209844	42705416	2809	23734											
CTNNA1	1495	broad.mit.edu	37	chr5	138269727	138269727	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgggcatctcagaagaagcaCgtgaacccggtgcaggccct	10	5	13	13	3	1	3	1	1	1	2	2	3	1	3	2	3	3	3	2	3	3	0	rs528674508		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:138269727C>T	ENST00000302763.7	+	18	2760	c.2670C>T	c.(2668-2670)caC>caT	p.H890H	CTNNA1_ENST00000540387.1_Silent_p.H520H|CTNNA1_ENST00000518825.1_3'UTR|CTNNA1_ENST00000355078.5_Silent_p.H787H	NM_001903.2	NP_001894.2	P35221	CTNA1_HUMAN	catenin (cadherin-associated protein), alpha 1, 102kDa	890					adherens junction organization (GO:0034332)|aging (GO:0007568)|apical junction assembly (GO:0043297)|axon regeneration (GO:0031103)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cellular protein localization (GO:0034613)|cellular response to indole-3-methanol (GO:0071681)|epithelial cell-cell adhesion (GO:0090136)|establishment or maintenance of cell polarity (GO:0007163)|gap junction assembly (GO:0016264)|male gonad development (GO:0008584)|muscle cell differentiation (GO:0042692)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell motility (GO:2000146)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of integrin-mediated signaling pathway (GO:2001045)|negative regulation of neuroblast proliferation (GO:0007406)|odontogenesis of dentin-containing tooth (GO:0042475)|ovarian follicle development (GO:0001541)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of smoothened signaling pathway (GO:0045880)|protein heterooligomerization (GO:0051291)|response to estrogen (GO:0043627)	acrosomal vesicle (GO:0001669)|actin cytoskeleton (GO:0015629)|catenin complex (GO:0016342)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|intercalated disc (GO:0014704)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|zonula adherens (GO:0005915)	beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|gamma-catenin binding (GO:0045295)|poly(A) RNA binding (GO:0044822)|structural molecule activity (GO:0005198)|vinculin binding (GO:0017166)	p.H890H(1)		NS(1)|breast(7)|cervix(2)|endometrium(4)|kidney(6)|large_intestine(16)|lung(9)|oesophagus(2)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	52			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			AGAAGAAGCACGTGAACCCGG	0.542													C|||	1	0.000199681	0	0	5008	,	,		17838	0		0	False		,,,				2504	0.001					ENST00000302763.7																			1	Substitution - coding silent(1)	p.H890H(1)	endometrium(1)	NS(1)|breast(7)|cervix(2)|endometrium(4)|kidney(6)|large_intestine(16)|lung(9)|oesophagus(2)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	52						c.(2668-2670)caC>caT		catenin (cadherin-associated protein), alpha 1, 102kDa							63	58	60					5																	138269727		2203	4300	6503	SO:0001819	synonymous_variant	1495				adherens junction organization|apical junction assembly|cell adhesion|cellular response to indole-3-methanol|muscle cell differentiation|positive regulation of muscle cell differentiation	actin cytoskeleton|catenin complex|cytosol	beta-catenin binding|cadherin binding|gamma-catenin binding|structural molecule activity|vinculin binding	g.chr5:138269727C>T	D13866	CCDS34243.1, CCDS75315.1	5q31.2	2008-02-05	2002-08-29			ENSG00000044115			2509	protein-coding gene	gene with protein product		116805	"catenin (cadherin-associated protein), alpha 1 (102kD)"			1924379	Standard	XM_005271898		Approved	CAP102	uc003ldh.3	P35221		ENST00000302763.7:c.2670C>T	5.37:g.138269727C>T						CTNNA1_ENST00000518825.1_3'UTR|CTNNA1_ENST00000540387.1_Silent_p.H520H|CTNNA1_ENST00000355078.5_Silent_p.H787H	p.H890H	NM_001903.2	NP_001894.2	P35221	CTNA1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)		18	2760	+			890					Q12795|Q8N1C0	Silent	SNP	ENST00000302763.7	37	c.2670C>T	CCDS34243.1																																																																																				0.542	CTNNA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373868.1	NM_001903		7	25	0	0	0	1	0	7	25					T	138269727	C	T	138269727	2	4	435	1	0	0	0	0	0	0	0	1	4012	535	19	1		1	CTNNA1	5	138269727	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	59883	138269727	42645533	2810	23735											
DNAJC18	202052	broad.mit.edu	37	chr5	138761897	138761897	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tccaaagaagacgttgaacaGctcttctggagtgatgtcag	12	10	11	8	1	3	4	1	2	2	2	4	5	4	5	1	1	2	2	1	1	3	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:138761897G>T	ENST00000302060.5	-	4	603	c.523C>A	c.(523-525)Ctg>Atg	p.L175M		NM_152686.3	NP_689899.1	Q9H819	DJC18_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 18	175						integral component of membrane (GO:0016021)				endometrium(2)|kidney(2)|large_intestine(4)|lung(3)|ovary(1)|skin(1)	13			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			ACGTTGAACAGCTCTTCTGGA	0.408																																						ENST00000302060.5																			0				endometrium(2)|kidney(2)|large_intestine(4)|lung(3)|ovary(1)|skin(1)	13						c.(523-525)Ctg>Atg		DnaJ (Hsp40) homolog, subfamily C, member 18							111	120	117					5																	138761897		2203	4300	6503	SO:0001583	missense	202052				protein folding	integral to membrane	heat shock protein binding|unfolded protein binding	g.chr5:138761897G>T	AK024054	CCDS4214.1	5q31.2	2011-09-02		2005-08-09	ENSG00000170464	ENSG00000170464		"Heat shock proteins / DNAJ (HSP40)"	28429	protein-coding gene	gene with protein product							Standard	NM_152686		Approved	MGC29463	uc003len.3	Q9H819	OTTHUMG00000129225	ENST00000302060.5:c.523C>A	5.37:g.138761897G>T	ENSP00000302843:p.Leu175Met						p.L175M	NM_152686.3	NP_689899.1	Q9H819	DJC18_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)		4	603	-			175						Missense_Mutation	SNP	ENST00000302060.5	37	c.523C>A	CCDS4214.1	.	.	.	.	.	.	.	.	.	.	G	16.96	3.266385	0.59540	.	.	ENSG00000170464	ENST00000302060;ENST00000508445;ENST00000515581	T;T;T	0.74002	-0.8;0.12;-0.53	5.5	1.35	0.21983	Heat shock protein DnaJ, N-terminal (1);	0.141138	0.48286	D	0.000194	T	0.65091	0.2658	L	0.48642	1.525	0.48185	D	0.999604	P	0.48694	0.914	P	0.46758	0.526	T	0.60073	-0.7334	10	0.48119	T	0.1	-1.2901	2.2892	0.04134	0.3281:0.128:0.4256:0.1183	.	175	Q9H819	DJC18_HUMAN	M	175;8;175	ENSP00000302843:L175M;ENSP00000426338:L8M;ENSP00000424572:L175M	ENSP00000302843:L175M	L	-	1	2	DNAJC18	138789796	1.000000	0.71417	0.838000	0.33150	0.738000	0.42128	2.892000	0.48625	0.275000	0.22094	0.563000	0.77884	CTG		0.408	DNAJC18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374191.1	NM_152686		26	54	1	0	5.45727e-16	1	5.98296e-16	26	54					T	138761897	G	T	138761897	3	4	435	1	0	0	0	0	1	0	0	0	4637	962	34	5	573	5	DNAJC18	5	138761897	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	492170	138761897	42153363	2811	23736											
CXXC5	51523	broad.mit.edu	37	chr5	139060174	139060174	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agcagcagcaccaatggcagCggtggcagtggcagcagtgg	10	4	17	10	1	0	0	0	0	0	0	0	0	0	0	1	5	5	7	1	5	1	0	rs200897692		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:139060174C>T	ENST00000302517.3	+	2	780	c.66C>T	c.(64-66)agC>agT	p.S22S	CXXC5_ENST00000511048.1_Silent_p.S22S	NM_016463.7	NP_057547.5	Q7LFL8	CXXC5_HUMAN	CXXC finger protein 5	22					positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)	DNA binding (GO:0003677)|signal transducer activity (GO:0004871)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(1)	12			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ccaatggcagcggtggcagtg	0.682													C|||	1	0.000199681	8e-04	0	5008	,	,		15235	0		0	False		,,,				2504	0					ENST00000302517.3																			0				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(1)	12						c.(64-66)agC>agT		CXXC finger protein 5																																				SO:0001819	synonymous_variant	51523				positive regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm|nucleus	DNA binding|signal transducer activity|zinc ion binding	g.chr5:139060174C>T	AK024338	CCDS43370.1	5q31.3	2014-02-18	2011-12-01						26943	protein-coding gene	gene with protein product	"retinoid-inducible nuclear factor", "WT1-induced Inhibitor of Dishevelled"	612752				11042152, 19001364, 19182210, 20220130	Standard	NM_016463		Approved	HSPC195, RINF, WID	uc010jfg.1	Q7LFL8		ENST00000302517.3:c.66C>T	5.37:g.139060174C>T						CXXC5_ENST00000511048.1_Silent_p.S22S	p.S22S	NM_016463.7	NP_057547.5	Q7LFL8	CXXC5_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		2	780	+			22					B3KND0|C8CBA8|Q8TB79|Q9NV51|Q9P0S8	Silent	SNP	ENST00000302517.3	37	c.66C>T	CCDS43370.1																																																																																				0.682	CXXC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372744.1	NM_016463		3	4	0	0	0	1	0	3	4					T	139060174	C	T	139060174	2	4	435	1	0	0	0	0	0	0	0	1	4099	767	27	1		1	CXXC5	5	139060174	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	298277	139060174	41855086	2812	23737											
CXXC5	51523	broad.mit.edu	37	chr5	139060706	139060706	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tggaggctgtggcaggtgccGaagccctcaatggccagtcc	7	7	15	12	1	1	0	1	0	0	0	2	2	2	1	4	5	2	2	4	5	2	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:139060706G>A	ENST00000302517.3	+	2	1312	c.598G>A	c.(598-600)Gaa>Aaa	p.E200K	CXXC5_ENST00000511048.1_Missense_Mutation_p.E200K|CXXC5_ENST00000515038.1_3'UTR	NM_016463.7	NP_057547.5	Q7LFL8	CXXC5_HUMAN	CXXC finger protein 5	200					positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)	DNA binding (GO:0003677)|signal transducer activity (GO:0004871)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(1)	12			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGCAGGTGCCGAAGCCCTCAA	0.637																																						ENST00000302517.3																			0				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(1)	12						c.(598-600)Gaa>Aaa		CXXC finger protein 5							25	31	29					5																	139060706		2115	4225	6340	SO:0001583	missense	51523				positive regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm|nucleus	DNA binding|signal transducer activity|zinc ion binding	g.chr5:139060706G>A	AK024338	CCDS43370.1	5q31.3	2014-02-18	2011-12-01						26943	protein-coding gene	gene with protein product	"retinoid-inducible nuclear factor", "WT1-induced Inhibitor of Dishevelled"	612752				11042152, 19001364, 19182210, 20220130	Standard	NM_016463		Approved	HSPC195, RINF, WID	uc010jfg.1	Q7LFL8		ENST00000302517.3:c.598G>A	5.37:g.139060706G>A	ENSP00000302543:p.Glu200Lys					CXXC5_ENST00000515038.1_3'UTR|CXXC5_ENST00000511048.1_Missense_Mutation_p.E200K	p.E200K	NM_016463.7	NP_057547.5	Q7LFL8	CXXC5_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		2	1312	+			200					B3KND0|C8CBA8|Q8TB79|Q9NV51|Q9P0S8	Missense_Mutation	SNP	ENST00000302517.3	37	c.598G>A	CCDS43370.1	.	.	.	.	.	.	.	.	.	.	G	19.50	3.839117	0.71373	.	.	ENSG00000171604	ENST00000302517;ENST00000511048	.	.	.	5.67	5.67	0.87782	.	0.102860	0.64402	D	0.000003	T	0.36771	0.0979	N	0.24115	0.695	0.54753	D	0.999988	P	0.36483	0.555	B	0.27262	0.078	T	0.17806	-1.0357	9	0.22109	T	0.4	-8.6298	17.9352	0.89010	0.0:0.0:1.0:0.0	.	200	Q7LFL8	CXXC5_HUMAN	K	200	.	ENSP00000302543:E200K	E	+	1	0	CXXC5	139040890	1.000000	0.71417	0.998000	0.56505	0.233000	0.25261	8.984000	0.93482	2.676000	0.91093	0.555000	0.69702	GAA		0.637	CXXC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372744.1	NM_016463		8	7	0	0	0	1	0	8	7					A	139060706	G	A	139060706	3	1	435	1	0	0	0	0	1	0	0	0	4099	1059	37	2	600	2	CXXC5	5	139060706	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	532	139060706	41854554	2813	23738											
PSD2	84249	broad.mit.edu	37	chr5	139216755	139216755	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cagtgccctcctccccagcgCcccgtgggaggcgtggctgg	3	6	15	17	3	0	0	0	0	0	0	2	1	2	1	6	4	2	1	6	4	0	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:139216755C>A	ENST00000274710.3	+	11	1802	c.1597C>A	c.(1597-1599)Ccc>Acc	p.P533T		NM_032289.2	NP_115665.1	Q9BQI7	PSD2_HUMAN	pleckstrin and Sec7 domain containing 2	533	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				neuron differentiation (GO:0030182)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|phospholipid binding (GO:0005543)			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(10)|liver(2)|lung(15)|ovary(1)|prostate(2)	38			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTCCCCAGCGCCCCGTGGGAG	0.592																																						ENST00000274710.3																			0				breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(10)|liver(2)|lung(15)|ovary(1)|prostate(2)	38						c.(1597-1599)Ccc>Acc		pleckstrin and Sec7 domain containing 2							71	78	75					5																	139216755		2203	4300	6503	SO:0001583	missense	84249				regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity	g.chr5:139216755C>A	AL136559	CCDS4216.1	5q31.3	2013-01-10			ENSG00000146005	ENSG00000146005		"Pleckstrin homology (PH) domain containing"	19092	protein-coding gene	gene with protein product							Standard	NM_032289		Approved	DKFZp761B0514	uc003leu.1	Q9BQI7	OTTHUMG00000129240	ENST00000274710.3:c.1597C>A	5.37:g.139216755C>A	ENSP00000274710:p.Pro533Thr						p.P533T	NM_032289.2	NP_115665.1	Q9BQI7	PSD2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		11	1802	+			533			PH.		D3DQD3|Q8N3J8	Missense_Mutation	SNP	ENST00000274710.3	37	c.1597C>A	CCDS4216.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.082794	0.76528	.	.	ENSG00000146005	ENST00000274710	T	0.78816	-1.21	5.29	5.29	0.74685	Pleckstrin homology-type (1);Pleckstrin homology domain, spectrin-type (1);Pleckstrin homology domain (3);	0.000000	0.85682	D	0.000000	D	0.85779	0.5776	L	0.49350	1.555	0.80722	D	1	D	0.76494	0.999	D	0.79108	0.992	D	0.86992	0.2111	10	0.87932	D	0	.	18.9015	0.92444	0.0:1.0:0.0:0.0	.	533	Q9BQI7	PSD2_HUMAN	T	533	ENSP00000274710:P533T	ENSP00000274710:P533T	P	+	1	0	PSD2	139196939	1.000000	0.71417	0.952000	0.39060	0.554000	0.35429	7.786000	0.85741	2.477000	0.83638	0.484000	0.47621	CCC		0.592	PSD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251339.1	NM_032289		25	50	1	0	1.2476e-16	1	1.37101e-16	25	50					A	139216755	C	A	139216755	3	1	435	1	0	0	0	0	1	0	0	0	12647	739	26	5	1635	5	PSD2	5	139216755	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	156049	139216755	41698505	2814	23739											
ANKHD1	54882	broad.mit.edu	37	chr5	139818200	139818200	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacaatgcaggacaagtggaCacgtatgtgtttaatgactt	13	11	10	7	1	0	1	0	1	0	0	0	3	0	3	0	2	1	3	0	2	4	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:139818200C>T	ENST00000360839.2	+	3	769	c.615C>T	c.(613-615)gaC>gaT	p.D205D	ANKHD1_ENST00000297183.6_Silent_p.D205D|ANKHD1_ENST00000394723.3_Silent_p.D205D|ANKHD1_ENST00000394722.3_Silent_p.D194D|ANKHD1-EIF4EBP3_ENST00000532219.1_Silent_p.D205D	NM_017747.2	NP_060217.1	Q8IWZ3	ANKH1_HUMAN	ankyrin repeat and KH domain containing 1	205						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GACAAGTGGACACGTATGTGT	0.408																																						ENST00000297183.6																			0				breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2)	60						c.(613-615)gaC>gaT		ankyrin repeat and KH domain containing 1							146	133	137					5																	139818200		2203	4300	6503	SO:0001819	synonymous_variant	54882							g.chr5:139818200C>T	AF521882	CCDS4225.1, CCDS43371.1, CCDS43372.1, CCDS75319.1	5q31.3	2013-01-10			ENSG00000131503	ENSG00000131503		"Ankyrin repeat domain containing"	24714	protein-coding gene	gene with protein product		610500				10470851, 11230166, 16098192	Standard	NM_017747		Approved	MASK, FLJ20288, FLJ11979, FLJ10042, FLJ14127, KIAA1085		Q8IWZ3	OTTHUMG00000161610	ENST00000360839.2:c.615C>T	5.37:g.139818200C>T						ANKHD1_ENST00000394723.3_Silent_p.D205D|ANKHD1_ENST00000360839.2_Silent_p.D205D|ANKHD1_ENST00000394722.3_Silent_p.D194D|ANKHD1-EIF4EBP3_ENST00000532219.1_Silent_p.D205D	p.D205D	NM_020690.5	NP_065741.3			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		3	739	+								A6NH85|Q149P2|Q8IWZ2|Q8WY90|Q96G77|Q96GK0|Q9H2U0|Q9HA95|Q9NWG4|Q9UPR7	Silent	SNP	ENST00000360839.2	37	c.615C>T	CCDS4225.1																																																																																				0.408	ANKHD1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000251672.1	NM_017747		33	47	0	0	0	1	0	33	47					T	139818200	C	T	139818200	2	4	435	1	0	0	0	0	0	0	0	1	628	477	17	3		3	ANKHD1	5	139818200	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	601445	139818200	41097060	2815	23740											
ANKHD1	54882	broad.mit.edu	37	chr5	139865209	139865209	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcattgaagctgcaaagggTggccatactaatgtagtttc	11	12	10	8	0	1	1	1	1	0	0	2	1	1	1	1	2	3	4	1	2	5	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:139865209T>C	ENST00000360839.2	+	13	2188	c.2034T>C	c.(2032-2034)ggT>ggC	p.G678G	ANKHD1_ENST00000297183.6_Silent_p.G678G|ANKHD1-EIF4EBP3_ENST00000532219.1_Silent_p.G678G	NM_017747.2	NP_060217.1	Q8IWZ3	ANKH1_HUMAN	ankyrin repeat and KH domain containing 1	678						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGCAAAGGGTGGCCATACTA	0.373																																						ENST00000297183.6																			0				breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2)	60						c.(2032-2034)ggT>ggC		ankyrin repeat and KH domain containing 1							132	124	127					5																	139865209		2203	4300	6503	SO:0001819	synonymous_variant	54882							g.chr5:139865209T>C	AF521882	CCDS4225.1, CCDS43371.1, CCDS43372.1, CCDS75319.1	5q31.3	2013-01-10			ENSG00000131503	ENSG00000131503		"Ankyrin repeat domain containing"	24714	protein-coding gene	gene with protein product		610500				10470851, 11230166, 16098192	Standard	NM_017747		Approved	MASK, FLJ20288, FLJ11979, FLJ10042, FLJ14127, KIAA1085		Q8IWZ3	OTTHUMG00000161610	ENST00000360839.2:c.2034T>C	5.37:g.139865209T>C						ANKHD1_ENST00000360839.2_Silent_p.G678G|ANKHD1-EIF4EBP3_ENST00000532219.1_Silent_p.G678G	p.G678G	NM_020690.5	NP_065741.3			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		13	2158	+								A6NH85|Q149P2|Q8IWZ2|Q8WY90|Q96G77|Q96GK0|Q9H2U0|Q9HA95|Q9NWG4|Q9UPR7	Silent	SNP	ENST00000360839.2	37	c.2034T>C	CCDS4225.1	.	.	.	.	.	.	.	.	.	.	T	9.975	1.226442	0.22542	.	.	ENSG00000131503	ENST00000246149	.	.	.	5.44	5.44	0.79542	.	.	.	.	.	T	0.62889	0.2465	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.62044	-0.6937	4	.	.	.	.	10.7641	0.46283	0.176:0.0:0.0:0.824	.	.	.	.	A	173	.	.	V	+	2	0	ANKHD1	139845393	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.188000	0.42612	2.189000	0.69895	0.459000	0.35465	GTG		0.373	ANKHD1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000251672.1	NM_017747		20	38	0	0	0	1	0	20	38					C	139865209	T	C	139865209	2	2	435	1	0	0	0	0	0	0	0	1	628	1683	59	4		4	ANKHD1	5	139865209	Silent	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	47009	139865209	41050051	2816	23741											
ANKHD1	54882	broad.mit.edu	37	chr5	139908134	139908134	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcaaactatgcaacagattcGgcatcctcgcttacccatgg	11	10	7	13	2	1	1	1	0	0	1	4	1	2	1	2	2	4	3	2	2	4	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:139908134G>A	ENST00000360839.2	+	29	5757	c.5603G>A	c.(5602-5604)cGg>cAg	p.R1868Q	ANKHD1_ENST00000544120.1_Missense_Mutation_p.R251Q|SNORD45_ENST00000363181.1_RNA|ANKHD1_ENST00000297183.6_Missense_Mutation_p.R1868Q|ANKHD1-EIF4EBP3_ENST00000532219.1_Missense_Mutation_p.R1868Q	NM_017747.2	NP_060217.1	Q8IWZ3	ANKH1_HUMAN	ankyrin repeat and KH domain containing 1	1868						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAACAGATTCGGCATCCTCGC	0.498																																						ENST00000297183.6																			0				breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2)	60						c.(5602-5604)cGg>cAg		ankyrin repeat and KH domain containing 1							128	122	124					5																	139908134		2203	4300	6503	SO:0001583	missense	54882							g.chr5:139908134G>A	AF521882	CCDS4225.1, CCDS43371.1, CCDS43372.1, CCDS75319.1	5q31.3	2013-01-10			ENSG00000131503	ENSG00000131503		"Ankyrin repeat domain containing"	24714	protein-coding gene	gene with protein product		610500				10470851, 11230166, 16098192	Standard	NM_017747		Approved	MASK, FLJ20288, FLJ11979, FLJ10042, FLJ14127, KIAA1085		Q8IWZ3	OTTHUMG00000161610	ENST00000360839.2:c.5603G>A	5.37:g.139908134G>A	ENSP00000354085:p.Arg1868Gln					ANKHD1_ENST00000544120.1_Missense_Mutation_p.R251Q|ANKHD1_ENST00000360839.2_Missense_Mutation_p.R1868Q|ANKHD1-EIF4EBP3_ENST00000532219.1_Missense_Mutation_p.R1868Q	p.R1868Q	NM_020690.5	NP_065741.3			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		29	5727	+								A6NH85|Q149P2|Q8IWZ2|Q8WY90|Q96G77|Q96GK0|Q9H2U0|Q9HA95|Q9NWG4|Q9UPR7	Missense_Mutation	SNP	ENST00000360839.2	37	c.5603G>A	CCDS4225.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.187809	0.78789	.	.	ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000254996	ENST00000360839;ENST00000297183;ENST00000253810;ENST00000431508;ENST00000536646;ENST00000433049;ENST00000544120;ENST00000532219	T;T;T;T;T;T	0.72051	-0.59;-0.62;1.47;1.4;0.95;-0.62	4.98	4.98	0.66077	.	0.000000	0.85682	D	0.000000	T	0.81823	0.4904	L	0.59436	1.845	0.58432	D	0.999999	D;D;D;D;D;D	0.89917	0.999;1.0;0.999;1.0;0.997;0.997	D;D;D;D;D;D	0.80764	0.986;0.988;0.994;0.988;0.968;0.968	T	0.80997	-0.1132	10	0.42905	T	0.14	.	18.452	0.90707	0.0:0.0:1.0:0.0	.	251;298;251;1868;1868;1868	Q8IWG5;Q9H059;F6WFL0;E9PF56;Q8IWZ2;Q8IWZ3	.;.;.;.;.;ANKH1_HUMAN	Q	1868;1868;1868;524;303;390;251;1868	ENSP00000354085:R1868Q;ENSP00000297183:R1868Q;ENSP00000393204:R524Q;ENSP00000390034:R390Q;ENSP00000437687:R251Q;ENSP00000432016:R1868Q	ENSP00000432016:R1868Q	R	+	2	0	ANKHD1-EIF4EBP3;ANKHD1	139888318	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.263000	0.95617	2.595000	0.87683	0.650000	0.86243	CGG		0.498	ANKHD1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000251672.1	NM_017747		46	43	0	0	0	1	0	46	43					A	139908134	G	A	139908134	3	1	435	1	0	0	0	0	1	0	0	0	628	1116	39	2	5823	2	ANKHD1	5	139908134	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	42925	139908134	41007126	2817	23742											
APBB3	10307	broad.mit.edu	37	chr5	139939991	139939991	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctctgacggcccaggtcagcGatgaggccaaaggtgtgtgg	8	7	16	10	2	2	2	1	2	1	0	2	3	2	2	2	5	1	0	2	5	1	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:139939991G>A	ENST00000357560.4	-	12	1574	c.1131C>T	c.(1129-1131)atC>atT	p.I377I	APBB3_ENST00000507279.1_5'Flank|APBB3_ENST00000356738.2_Silent_p.I382I|SRA1_ENST00000520427.1_5'Flank|APBB3_ENST00000511201.2_Missense_Mutation_p.R337C|SRA1_ENST00000336283.6_5'Flank|APBB3_ENST00000412920.3_Silent_p.I375I|APBB3_ENST00000358580.5_Missense_Mutation_p.R339C|APBB3_ENST00000508496.2_Silent_p.I154I|APBB3_ENST00000354402.5_Silent_p.I384I	NM_006051.3|NM_133173.2	NP_006042.3|NP_573419.2	O95704	APBB3_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 3	377	PID 2. {ECO:0000255|PROSITE- ProRule:PRU00148}.					actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)	11			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCAGGTCAGCGATGAGGCCAA	0.612																																						ENST00000358580.5																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)	11						c.(1015-1017)Cgc>Tgc		amyloid beta (A4) precursor protein-binding, family B, member 3							58	50	53					5																	139939991		2203	4300	6503	SO:0001819	synonymous_variant	10307					actin cytoskeleton|cytoplasm		g.chr5:139939991G>A	AB018247	CCDS4227.1, CCDS4228.1, CCDS4229.1, CCDS47279.1	5q31	2008-02-05			ENSG00000113108	ENSG00000113108			20708	protein-coding gene	gene with protein product		602711				9407065	Standard	NM_133172		Approved	FE65L2	uc003lgd.1	O95704	OTTHUMG00000129504	ENST00000357560.4:c.1131C>T	5.37:g.139939991G>A						APBB3_ENST00000412920.3_Silent_p.I375I|APBB3_ENST00000511201.2_Missense_Mutation_p.R337C|APBB3_ENST00000356738.2_Silent_p.I382I|APBB3_ENST00000508496.2_Silent_p.I154I|APBB3_ENST00000357560.4_Silent_p.I377I|APBB3_ENST00000354402.5_Silent_p.I384I	p.R339C			O95704	APBB3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		11	1101	-			0			PID 2.		B3KQN9|Q08AG4|Q96Q18|Q9BYD4|Q9NYX6|Q9NYX7|Q9NYX8	Missense_Mutation	SNP	ENST00000357560.4	37	c.1015C>T	CCDS4229.1	.	.	.	.	.	.	.	.	.	.	G	13.49	2.253943	0.39896	.	.	ENSG00000113108	ENST00000358580;ENST00000511201	T;T	0.25414	1.8;1.8	5.28	-4.01	0.04045	.	.	.	.	.	T	0.15392	0.0371	.	.	.	0.29918	N	0.822963	B	0.02656	0.0	B	0.01281	0.0	T	0.32268	-0.9913	7	.	.	.	-10.2166	14.045	0.64700	0.37:0.0:0.63:0.0	.	337	D6RBA1	.	C	339;337	ENSP00000351389:R339C;ENSP00000424317:R337C	.	R	-	1	0	APBB3	139920175	0.024000	0.19004	0.922000	0.36590	0.994000	0.84299	-0.726000	0.04936	-0.819000	0.04323	-0.150000	0.13652	CGC		0.612	APBB3-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251677.2	NM_006051		9	13	0	0	0	1	0	9	13					A	139939991	G	A	139939991	2	1	435	1	0	0	0	0	0	0	0	1	762	1048	37	2		2	APBB3	5	139939991	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	31857	139939991	40975269	2818	23743											
APBB3	10307	broad.mit.edu	37	chr5	139942036	139942036	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	actgctcttccccggtgccaGgtcctcttcaggtacctcta	5	12	8	16	1	4	0	1	0	3	0	6	0	6	0	5	3	3	2	5	3	2	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:139942036G>T	ENST00000357560.4	-	5	843	c.400C>A	c.(400-402)Ctg>Atg	p.L134M	APBB3_ENST00000507279.1_5'UTR|APBB3_ENST00000356738.2_Missense_Mutation_p.L134M|SLC35A4_ENST00000323146.3_5'Flank|APBB3_ENST00000511201.2_Missense_Mutation_p.L134M|APBB3_ENST00000412920.3_Missense_Mutation_p.L134M|APBB3_ENST00000358580.5_Missense_Mutation_p.L134M|SLC35A4_ENST00000514199.1_5'Flank|APBB3_ENST00000508496.2_De_novo_Start_OutOfFrame|APBB3_ENST00000354402.5_Missense_Mutation_p.L134M	NM_006051.3|NM_133173.2	NP_006042.3|NP_573419.2	O95704	APBB3_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 3	134	PID 1. {ECO:0000255|PROSITE- ProRule:PRU00148}.					actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)	11			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCCGGTGCCAGGTCCTCTTCA	0.587																																						ENST00000508496.2																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)	11								amyloid beta (A4) precursor protein-binding, family B, member 3							135	140	138					5																	139942036		2203	4300	6503	SO:0001583	missense	10307					actin cytoskeleton|cytoplasm		g.chr5:139942036G>T	AB018247	CCDS4227.1, CCDS4228.1, CCDS4229.1, CCDS47279.1	5q31	2008-02-05			ENSG00000113108	ENSG00000113108			20708	protein-coding gene	gene with protein product		602711				9407065	Standard	NM_133172		Approved	FE65L2	uc003lgd.1	O95704	OTTHUMG00000129504	ENST00000357560.4:c.400C>A	5.37:g.139942036G>T	ENSP00000350171:p.Leu134Met					APBB3_ENST00000412920.3_Missense_Mutation_p.L134M|APBB3_ENST00000511201.2_Missense_Mutation_p.L134M|APBB3_ENST00000356738.2_Missense_Mutation_p.L134M|APBB3_ENST00000507279.1_5'UTR|APBB3_ENST00000357560.4_Missense_Mutation_p.L134M|APBB3_ENST00000354402.5_Missense_Mutation_p.L134M|APBB3_ENST00000358580.5_Missense_Mutation_p.L134M				O95704	APBB3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		0	387	-								B3KQN9|Q08AG4|Q96Q18|Q9BYD4|Q9NYX6|Q9NYX7|Q9NYX8	Translation_Start_Site	SNP	ENST00000357560.4	37		CCDS4229.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.105994	0.77096	.	.	ENSG00000113108	ENST00000358580;ENST00000356738;ENST00000354402;ENST00000357560;ENST00000412920;ENST00000511201	T;T;T;T;T;T	0.20881	2.04;2.04;2.04;2.04;2.04;2.04	5.12	4.24	0.50183	.	0.000000	0.64402	D	0.000003	T	0.38188	0.1031	L	0.56124	1.755	0.58432	D	0.999996	D;D	0.89917	1.0;0.999	D;D	0.97110	1.0;1.0	T	0.03933	-1.0991	9	.	.	.	-6.15	11.2425	0.48977	0.1464:0.0:0.8536:0.0	.	134;134	O95704-2;O95704-3	.;.	M	134	ENSP00000351389:L134M;ENSP00000349177:L134M;ENSP00000346378:L134M;ENSP00000350171:L134M;ENSP00000402591:L134M;ENSP00000424317:L134M	.	L	-	1	2	APBB3	139922220	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.369000	0.52365	2.400000	0.81607	0.650000	0.86243	CTG		0.587	APBB3-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251677.2	NM_006051		46	87	1	0	6.27289e-28	1	7.01837e-28	46	87					T	139942036	G	T	139942036	3	4	435	1	0	0	0	0	1	0	0	0	762	991	35	5	1113	5	APBB3	5	139942036	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	2045	139942036	40973224	2819	23744											
SLC35A4	113829	broad.mit.edu	37	chr5	139947311	139947311	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	catgcccctgcatatcactcCgctaggcctgctgctcctca	6	10	7	18	1	2	0	2	0	0	0	4	0	4	0	5	1	4	4	5	1	2	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:139947311C>T	ENST00000514199.1	+	2	2243	c.557C>T	c.(556-558)cCg>cTg	p.P186L	APBB3_ENST00000507279.1_Intron|SLC35A4_ENST00000323146.3_Missense_Mutation_p.P186L			Q96G79	S35A4_HUMAN	solute carrier family 35, member A4	186	Leu-rich.					Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	sugar:proton symporter activity (GO:0005351)	p.P186L(1)		endometrium(4)|kidney(2)|large_intestine(3)|lung(4)	13			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CATATCACTCCGCTAGGCCTG	0.617																																						ENST00000514199.1																			1	Substitution - Missense(1)	p.P186L(1)	endometrium(1)	endometrium(4)|kidney(2)|large_intestine(3)|lung(4)	13						c.(556-558)cCg>cTg		solute carrier family 35, member A4							84	79	81					5																	139947311		2203	4300	6503	SO:0001583	missense	113829					Golgi membrane|integral to membrane	sugar:hydrogen symporter activity	g.chr5:139947311C>T	AJ420598	CCDS4231.1	5q31.3	2013-05-22			ENSG00000176087	ENSG00000176087		"Solute carriers"	20753	protein-coding gene	gene with protein product							Standard	NM_080670		Approved		uc003lgg.1	Q96G79	OTTHUMG00000129495	ENST00000514199.1:c.557C>T	5.37:g.139947311C>T	ENSP00000424566:p.Pro186Leu					APBB3_ENST00000507279.1_Intron|SLC35A4_ENST00000323146.3_Missense_Mutation_p.P186L	p.P186L			Q96G79	S35A4_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		2	2243	+			186			Leu-rich.		A8K013	Missense_Mutation	SNP	ENST00000514199.1	37	c.557C>T	CCDS4231.1	.	.	.	.	.	.	.	.	.	.	C	5.297	0.240145	0.10023	.	.	ENSG00000176087	ENST00000323146;ENST00000514199	T;T	0.37752	1.18;1.18	4.78	3.91	0.45181	.	0.213202	0.41194	D	0.000936	T	0.20414	0.0491	N	0.19112	0.55	0.44976	D	0.997991	B	0.18968	0.032	B	0.15484	0.013	T	0.06023	-1.0850	9	.	.	.	-25.3299	8.0979	0.30840	0.0:0.751:0.0:0.249	.	186	Q96G79	S35A4_HUMAN	L	186	ENSP00000327133:P186L;ENSP00000424566:P186L	.	P	+	2	0	SLC35A4	139927495	0.967000	0.33354	0.996000	0.52242	0.690000	0.40134	2.797000	0.47877	1.234000	0.43709	0.462000	0.41574	CCG		0.617	SLC35A4-004	PUTATIVE	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372815.1	NM_080670		35	50	0	0	0	1	0	35	50					T	139947311	C	T	139947311	3	4	435	1	0	0	0	0	1	0	0	0	14573	652	23	2	559	2	SLC35A4	5	139947311	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	5275	139947311	40967949	2820	23745											
CD14	929	broad.mit.edu	37	chr5	140011446	140011446	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attctgtcttggatcttaggCaaagccccgggccccttgga	7	11	11	12	1	3	0	0	0	3	0	3	2	3	2	4	4	1	1	4	4	2	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:140011446C>T	ENST00000302014.6	-	2	1752	c.1123G>A	c.(1123-1125)Gcc>Acc	p.A375T	CD14_ENST00000401743.2_Missense_Mutation_p.A375T	NM_000591.3	NP_000582.1	P08571	CD14_HUMAN	CD14 molecule	375					apoptotic process (GO:0006915)|cell surface receptor signaling pathway (GO:0007166)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to lipoteichoic acid (GO:0071223)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|phagocytosis (GO:0006909)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of endocytosis (GO:0045807)|positive regulation of tumor necrosis factor production (GO:0032760)|response to ethanol (GO:0045471)|response to heat (GO:0009408)|response to magnesium ion (GO:0032026)|response to tumor necrosis factor (GO:0034612)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	lipopolysaccharide binding (GO:0001530)|lipoteichoic acid binding (GO:0070891)|opsonin receptor activity (GO:0001847)|peptidoglycan receptor activity (GO:0016019)			endometrium(1)|large_intestine(1)|lung(3)|pancreas(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGATCTTAGGCAAAGCCCCGG	0.582																																						ENST00000302014.6																			0				endometrium(1)|large_intestine(1)|lung(3)|pancreas(1)	6						c.(1123-1125)Gcc>Acc		CD14 molecule							57	64	62					5																	140011446		2203	4300	6503	SO:0001583	missense	929				apoptosis|cellular response to lipopolysaccharide|cellular response to lipoteichoic acid|inflammatory response|innate immune response|phagocytosis|positive regulation of tumor necrosis factor production|Toll signaling pathway	anchored to membrane|plasma membrane	lipopolysaccharide binding|lipoteichoic acid binding|opsonin receptor activity|peptidoglycan receptor activity	g.chr5:140011446C>T		CCDS4232.1	5q31.3	2012-09-20	2006-03-28		ENSG00000170458	ENSG00000170458		"CD molecules"	1628	protein-coding gene	gene with protein product		158120	"CD14 antigen"			2472171, 2462937	Standard	NM_000591		Approved		uc003lgi.2	P08571	OTTHUMG00000129507	ENST00000302014.6:c.1123G>A	5.37:g.140011446C>T	ENSP00000304236:p.Ala375Thr					CD14_ENST00000401743.2_Missense_Mutation_p.A375T	p.A375T	NM_000591.3	NP_000582.1	P08571	CD14_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		2	1752	-			375					Q53XT5|Q96FR6|Q96L99|Q9UNS3	Missense_Mutation	SNP	ENST00000302014.6	37	c.1123G>A	CCDS4232.1	.	.	.	.	.	.	.	.	.	.	C	18.46	3.628369	0.67015	.	.	ENSG00000170458	ENST00000302014;ENST00000401743	T;T	0.33654	1.4;1.4	5.35	1.5	0.22942	.	0.673556	0.12507	N	0.462831	T	0.26666	0.0652	L	0.46157	1.445	0.09310	N	1	B	0.24186	0.099	B	0.21151	0.033	T	0.31971	-0.9924	10	0.72032	D	0.01	.	2.4446	0.04503	0.1539:0.5324:0.1488:0.1649	.	375	P08571	CD14_HUMAN	T	375	ENSP00000304236:A375T;ENSP00000385519:A375T	ENSP00000304236:A375T	A	-	1	0	CD14	139991630	0.000000	0.05858	0.001000	0.08648	0.163000	0.22366	0.041000	0.13927	0.160000	0.19432	-0.176000	0.13171	GCC		0.582	CD14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251681.2	NM_000591		10	85	0	0	0	1	0	10	85					T	140011446	C	T	140011446	3	4	435	1	0	0	0	0	1	0	0	0	2964	710	25	3	8	3	CD14	5	140011446	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	64135	140011446	40903814	2821	23746											
CD14	929	broad.mit.edu	37	chr5	140012544	140012544	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caccagcggcagcagcagcaGcaacaagcaggacgcgcgct	12	1	13	15	4	0	0	0	0	0	0	0	1	0	1	1	2	7	7	1	2	2	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:140012544G>A	ENST00000302014.6	-	2	654	c.25C>T	c.(25-27)Ctg>Ttg	p.L9L	CD14_ENST00000401743.2_Silent_p.L9L	NM_000591.3	NP_000582.1	P08571	CD14_HUMAN	CD14 molecule	9					apoptotic process (GO:0006915)|cell surface receptor signaling pathway (GO:0007166)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to lipoteichoic acid (GO:0071223)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|phagocytosis (GO:0006909)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of endocytosis (GO:0045807)|positive regulation of tumor necrosis factor production (GO:0032760)|response to ethanol (GO:0045471)|response to heat (GO:0009408)|response to magnesium ion (GO:0032026)|response to tumor necrosis factor (GO:0034612)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	lipopolysaccharide binding (GO:0001530)|lipoteichoic acid binding (GO:0070891)|opsonin receptor activity (GO:0001847)|peptidoglycan receptor activity (GO:0016019)			endometrium(1)|large_intestine(1)|lung(3)|pancreas(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGCAGCAGCAGCAACAAGCAG	0.632																																						ENST00000302014.6																			0				endometrium(1)|large_intestine(1)|lung(3)|pancreas(1)	6						c.(25-27)Ctg>Ttg		CD14 molecule							39	36	37					5																	140012544		2203	4300	6503	SO:0001819	synonymous_variant	929				apoptosis|cellular response to lipopolysaccharide|cellular response to lipoteichoic acid|inflammatory response|innate immune response|phagocytosis|positive regulation of tumor necrosis factor production|Toll signaling pathway	anchored to membrane|plasma membrane	lipopolysaccharide binding|lipoteichoic acid binding|opsonin receptor activity|peptidoglycan receptor activity	g.chr5:140012544G>A		CCDS4232.1	5q31.3	2012-09-20	2006-03-28		ENSG00000170458	ENSG00000170458		"CD molecules"	1628	protein-coding gene	gene with protein product		158120	"CD14 antigen"			2472171, 2462937	Standard	NM_000591		Approved		uc003lgi.2	P08571	OTTHUMG00000129507	ENST00000302014.6:c.25C>T	5.37:g.140012544G>A						CD14_ENST00000401743.2_Silent_p.L9L	p.L9L	NM_000591.3	NP_000582.1	P08571	CD14_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		2	654	-			9					Q53XT5|Q96FR6|Q96L99|Q9UNS3	Silent	SNP	ENST00000302014.6	37	c.25C>T	CCDS4232.1																																																																																				0.632	CD14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251681.2	NM_000591		7	14	0	0	0	1	0	7	14					A	140012544	G	A	140012544	2	1	435	1	0	0	0	0	0	0	0	1	2964	962	34	3		3	CD14	5	140012544	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	1098	140012544	40902716	2822	23747											
TMCO6	55374	broad.mit.edu	37	chr5	140023734	140023734	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctccctggatctgattgaGcctctcttacagctgttgcc	5	14	8	14	0	3	2	0	2	3	0	5	3	3	3	3	1	4	2	3	1	1	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:140023734G>A	ENST00000394671.3	+	10	1256	c.1155G>A	c.(1153-1155)gaG>gaA	p.E385E	TMCO6_ENST00000537378.1_Silent_p.E145E|TMCO6_ENST00000252100.6_Silent_p.E391E|NDUFA2_ENST00000510680.1_Intron	NM_018502.3	NP_060972.3	Q96DC7	TMCO6_HUMAN	transmembrane and coiled-coil domains 6	385					protein import into nucleus (GO:0006606)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	protein transporter activity (GO:0008565)			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(1)|urinary_tract(1)	9			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATCTGATTGAGCCTCTCTTAC	0.488																																						ENST00000394671.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(1)|urinary_tract(1)	9						c.(1153-1155)gaG>gaA		transmembrane and coiled-coil domains 6							283	270	274					5																	140023734		1983	4179	6162	SO:0001819	synonymous_variant	55374				protein import into nucleus	cytoplasm|nuclear pore	binding|protein transporter activity	g.chr5:140023734G>A	BC001910	CCDS4233.2, CCDS75320.1	5q31.3	2008-11-06			ENSG00000113119	ENSG00000113119			28814	protein-coding gene	gene with protein product						12477932	Standard	XM_005268476		Approved	FLJ39769, PRO1580	uc003lgl.3	Q96DC7	OTTHUMG00000129497	ENST00000394671.3:c.1155G>A	5.37:g.140023734G>A						TMCO6_ENST00000537378.1_Silent_p.E145E|TMCO6_ENST00000252100.6_Silent_p.E391E|NDUFA2_ENST00000510680.1_Intron	p.E385E	NM_018502.3	NP_060972.3	Q96DC7	TMCO6_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		10	1256	+			385					Q9BUU0|Q9P198	Silent	SNP	ENST00000394671.3	37	c.1155G>A	CCDS4233.2																																																																																				0.488	TMCO6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251666.2	NM_018502		8	147	0	0	0	1	0	8	147					A	140023734	G	A	140023734	2	1	435	1	0	0	0	0	0	0	0	1	15997	962	34	3		3	TMCO6	5	140023734	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	11190	140023734	40891526	2823	23748											
IK	3550	broad.mit.edu	37	chr5	140032579	140032579	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagttattatgccaagctacGccaacaagaaattgagagag	16	8	9	8	1	0	3	0	1	0	2	0	4	0	3	2	0	4	2	2	0	7	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:140032579G>A	ENST00000417647.2	+	5	393	c.254G>A	c.(253-255)cGc>cAc	p.R85H	IK_ENST00000523672.1_3'UTR	NM_006083.3	NP_006074.2	Q13123	RED_HUMAN	IK cytokine, down-regulator of HLA II	85					cell-cell signaling (GO:0007267)|immune response (GO:0006955)	extracellular space (GO:0005615)|nucleus (GO:0005634)	identical protein binding (GO:0042802)			large_intestine(1)	1		all_hematologic(541;4.8e-07)|all_lung(500;0.000434)|Lung NSC(810;0.00161)|Breast(839;0.128)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCCAAGCTACGCCAACAAGAA	0.468																																						ENST00000417647.2																			0				large_intestine(1)	1						c.(253-255)cGc>cAc		IK cytokine, down-regulator of HLA II							62	57	59					5																	140032579		1932	4150	6082	SO:0001583	missense	3550				cell-cell signaling|immune response	extracellular space|nucleus|soluble fraction		g.chr5:140032579G>A	BC051295	CCDS47280.1	5q31.3	2008-08-07			ENSG00000113141	ENSG00000113141			5958	protein-coding gene	gene with protein product		600549				7970704	Standard	NM_006083		Approved		uc003lgq.3	Q13123	OTTHUMG00000163374	ENST00000417647.2:c.254G>A	5.37:g.140032579G>A	ENSP00000396301:p.Arg85His					IK_ENST00000523672.1_3'UTR	p.R85H	NM_006083.3	NP_006074.2	Q13123	RED_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		5	393	+		all_hematologic(541;4.8e-07)|all_lung(500;0.000434)|Lung NSC(810;0.00161)|Breast(839;0.128)	85					Q6IPD8	Missense_Mutation	SNP	ENST00000417647.2	37	c.254G>A	CCDS47280.1	.	.	.	.	.	.	.	.	.	.	G	33	5.279409	0.95489	.	.	ENSG00000113141	ENST00000513256;ENST00000417647;ENST00000507593;ENST00000508301;ENST00000261812;ENST00000502899	.	.	.	5.94	5.94	0.96194	RED-like, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.61375	0.2342	N	0.08118	0	0.80722	D	1	P;D	0.76494	0.529;0.999	B;D	0.80764	0.04;0.994	T	0.68796	-0.5314	9	0.59425	D	0.04	.	19.9686	0.97276	0.0:0.0:1.0:0.0	.	85;85	Q9UK43;Q13123	.;RED_HUMAN	H	81;85;92;85;85;85	.	ENSP00000261812:R85H	R	+	2	0	IK	140012763	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.795000	0.85887	2.820000	0.97059	0.650000	0.86243	CGC		0.468	IK-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372897.1	NM_006083		15	10	0	0	0	1	0	15	10					A	140032579	G	A	140032579	3	1	435	1	0	0	0	0	1	0	0	0	7608	1087	38	1	272	1	IK	5	140032579	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	8845	140032579	40882681	2824	23749											
PCDHA1	56147	broad.mit.edu	37	chr5	140166017	140166017	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acggcaccttcgttggccgcGttgctcaggacctgggactg	5	9	14	13	4	1	0	1	0	0	0	2	2	1	2	3	4	1	4	3	4	0	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:140166017G>A	ENST00000504120.2	+	1	142	c.142G>A	c.(142-144)Gtt>Att	p.V48I	PCDHA1_ENST00000378133.3_Missense_Mutation_p.V48I|PCDHA1_ENST00000394633.3_Missense_Mutation_p.V48I	NM_018900.2	NP_061723.1	Q9Y5I3	PCDA1_HUMAN	protocadherin alpha 1	48	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.V48I(2)		breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3)	70			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGTTGGCCGCGTTGCTCAGGA	0.627																																						ENST00000504120.2																			2	Substitution - Missense(2)	p.V48I(2)	large_intestine(2)	breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3)	70						c.(142-144)Gtt>Att									51	57	55					5																	140166017		2203	4300	6503	SO:0001583	missense	0							g.chr5:140166017G>A	AF152479	CCDS54912.1, CCDS54913.1	5q31	2010-11-26				ENSG00000204970		"Cadherins / Protocadherins : Clustered"	8663	other	complex locus constituent	"KIAA0345-like 13"	606307				10380929	Standard	NM_018900		Approved			Q9Y5I3		ENST00000504120.2:c.142G>A	5.37:g.140166017G>A	ENSP00000420840:p.Val48Ile					PCDHA1_ENST00000394633.3_Missense_Mutation_p.V48I|PCDHA1_ENST00000378133.3_Missense_Mutation_p.V48I	p.V48I	NM_018900.2	NP_061723.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	142	+								O75288|Q9NRT7	Missense_Mutation	SNP	ENST00000504120.2	37	c.142G>A	CCDS54913.1	.	.	.	.	.	.	.	.	.	.	N	0.121	-1.126032	0.01770	.	.	ENSG00000204970	ENST00000504120;ENST00000394633;ENST00000378133	T;T;T	0.24538	1.85;1.85;1.85	4.53	2.0	0.26442	Cadherin, N-terminal (1);Cadherin (3);Cadherin-like (1);	0.000000	0.43747	N	0.000523	T	0.04318	0.0119	N	0.00151	-1.98	0.22571	N	0.99897	B;B;B	0.19073	0.004;0.033;0.007	B;B;B	0.25759	0.003;0.063;0.002	T	0.43861	-0.9365	10	0.02654	T	1	.	7.1135	0.25403	0.623:0.2973:0.0796:0.0	.	48;48;48	Q9Y5I3;Q9Y5I3-2;Q9Y5I3-3	PCDA1_HUMAN;.;.	I	48	ENSP00000420840:V48I;ENSP00000378129:V48I;ENSP00000367373:V48I	ENSP00000367373:V48I	V	+	1	0	PCDHA1	140146201	0.011000	0.17503	1.000000	0.80357	0.540000	0.34992	0.440000	0.21592	0.206000	0.20587	-0.247000	0.11927	GTT		0.627	PCDHA1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000389127.1	NM_018900		21	32	0	0	0	1	0	21	32					A	140166017	G	A	140166017	3	1	435	1	0	0	0	0	1	0	0	0	11519	1145	40	1	144	1	PCDHA1	5	140166017	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	133438	140166017	40749243	2825	23750											
PCDHA1	56147	broad.mit.edu	37	chr5	140167325	140167325	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtctgcgcgggacgcggacGcgcaggagaacgcgctggtg	6	5	19	11	8	1	1	0	0	1	1	1	4	1	3	0	4	2	2	0	4	1	0	rs371009349		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:140167325G>A	ENST00000504120.2	+	1	1450	c.1450G>A	c.(1450-1452)Gcg>Acg	p.A484T	PCDHA1_ENST00000378133.3_Missense_Mutation_p.A484T|PCDHA1_ENST00000394633.3_Missense_Mutation_p.A484T	NM_018900.2	NP_061723.1	Q9Y5I3	PCDA1_HUMAN	protocadherin alpha 1	484	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3)	70			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGACGCGGACGCGCAGGAGAA	0.662																																						ENST00000504120.2																			0				breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3)	70						c.(1450-1452)Gcg>Acg									66	70	69					5																	140167325		2203	4299	6502	SO:0001583	missense	0							g.chr5:140167325G>A	AF152479	CCDS54912.1, CCDS54913.1	5q31	2010-11-26				ENSG00000204970		"Cadherins / Protocadherins : Clustered"	8663	other	complex locus constituent	"KIAA0345-like 13"	606307				10380929	Standard	NM_018900		Approved			Q9Y5I3		ENST00000504120.2:c.1450G>A	5.37:g.140167325G>A	ENSP00000420840:p.Ala484Thr					PCDHA1_ENST00000394633.3_Missense_Mutation_p.A484T|PCDHA1_ENST00000378133.3_Missense_Mutation_p.A484T	p.A484T	NM_018900.2	NP_061723.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1450	+								O75288|Q9NRT7	Missense_Mutation	SNP	ENST00000504120.2	37	c.1450G>A	CCDS54913.1	.	.	.	.	.	.	.	.	.	.	g	9.433	1.085960	0.20390	.	.	ENSG00000204970	ENST00000504120;ENST00000394633;ENST00000378133	T;T;T	0.01838	4.61;4.61;4.61	3.69	3.69	0.42338	Cadherin (4);Cadherin-like (1);	0.000000	0.41097	U	0.000943	T	0.01287	0.0042	N	0.12471	0.22	0.22424	N	0.999112	B;B;P	0.35656	0.236;0.175;0.514	B;B;B	0.29524	0.089;0.022;0.103	T	0.50101	-0.8867	10	0.51188	T	0.08	.	5.367	0.16119	0.1083:0.0:0.6243:0.2674	.	484;484;484	Q9Y5I3;Q9Y5I3-2;Q9Y5I3-3	PCDA1_HUMAN;.;.	T	484	ENSP00000420840:A484T;ENSP00000378129:A484T;ENSP00000367373:A484T	ENSP00000367373:A484T	A	+	1	0	PCDHA1	140147509	0.021000	0.18746	1.000000	0.80357	0.305000	0.27757	0.407000	0.21049	1.805000	0.52779	0.549000	0.68633	GCG		0.662	PCDHA1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000389127.1	NM_018900		26	46	0	0	0	1	0	26	46					A	140167325	G	A	140167325	3	1	435	1	0	0	0	0	1	0	0	0	11519	1087	38	1	1452	1	PCDHA1	5	140167325	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	1308	140167325	40747935	2826	23751											
PCDHA2	56146	broad.mit.edu	37	chr5	140176054	140176054	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagcggcgggtgggcgagcGcgcgttgtcgagctacgttt	4	8	20	9	8	0	0	0	0	0	0	1	3	0	1	0	4	4	3	0	4	1	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:140176054G>A	ENST00000526136.1	+	1	1505	c.1505G>A	c.(1504-1506)cGc>cAc	p.R502H	PCDHA2_ENST00000520672.2_Missense_Mutation_p.R502H|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000378132.1_Missense_Mutation_p.R502H|PCDHA1_ENST00000394633.3_Intron	NM_018905.2	NP_061728.1	Q9Y5H9	PCDA2_HUMAN	protocadherin alpha 2	502	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTGGGCGAGCGCGCGTTGTCG	0.682																																						ENST00000526136.1																			0				NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)	71						c.(1504-1506)cGc>cAc									53	55	55					5																	140176054		2203	4299	6502	SO:0001583	missense	0							g.chr5:140176054G>A	AF152480	CCDS54914.1, CCDS64269.1	5q31	2010-11-26				ENSG00000204969		"Cadherins / Protocadherins : Clustered"	8668	other	complex locus constituent	"KIAA0345-like 12"	606308				10380929	Standard	NM_018905		Approved			Q9Y5H9		ENST00000526136.1:c.1505G>A	5.37:g.140176054G>A	ENSP00000431748:p.Arg502His					PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000378132.1_Missense_Mutation_p.R502H|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000520672.2_Missense_Mutation_p.R502H	p.R502H	NM_018905.2	NP_061728.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1505	+								O75287|Q9BTV3	Missense_Mutation	SNP	ENST00000526136.1	37	c.1505G>A	CCDS54914.1	.	.	.	.	.	.	.	.	.	.	g	11.40	1.627919	0.28978	.	.	ENSG00000204969	ENST00000520672;ENST00000378132;ENST00000526136	T;T;T	0.60920	0.15;0.15;0.15	3.88	2.93	0.34026	Cadherin (4);Cadherin-like (1);	0.000000	0.39985	U	0.001206	T	0.46889	0.1416	L	0.50333	1.59	0.09310	N	1	P;B;P	0.37176	0.586;0.282;0.586	B;B;B	0.40228	0.245;0.323;0.245	T	0.40117	-0.9580	10	0.44086	T	0.13	.	3.1869	0.06604	0.098:0.1256:0.4774:0.299	.	502;502;502	Q9Y5H9-3;Q9Y5H9;Q9Y5H9-2	.;PCDA2_HUMAN;.	H	502	ENSP00000430584:R502H;ENSP00000367372:R502H;ENSP00000431748:R502H	ENSP00000367372:R502H	R	+	2	0	PCDHA2	140156238	0.991000	0.36638	0.993000	0.49108	0.952000	0.60782	2.324000	0.43831	1.903000	0.55091	0.644000	0.83932	CGC		0.682	PCDHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372877.3	NM_018905		12	51	0	0	0	1	0	12	51					A	140176054	G	A	140176054	3	1	435	1	0	0	0	0	1	0	0	0	11524	1087	38	1	1507	1	PCDHA2	5	140176054	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	8729	140176054	40739206	2827	23752											
PCDHA2	56146	broad.mit.edu	37	chr5	140176990	140176990	+	Intron	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aattgttctttttaaaaaatTctatatgatttctactagtt	13	21	3	4	0	3	1	0	1	3	0	3	1	3	1	0	0	1	2	0	0	8	12			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:140176990T>C	ENST00000526136.1	+	1	2388				PCDHA2_ENST00000520672.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000378132.1_Missense_Mutation_p.F814S|PCDHA1_ENST00000394633.3_Intron	NM_018905.2	NP_061728.1	Q9Y5H9	PCDA2_HUMAN	protocadherin alpha 2						cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTTAAAAAATTCTATATGATT	0.299																																						ENST00000378132.1																			0				NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)	71						c.(2440-2442)tTc>tCc									14	18	16					5																	140176990		2170	4292	6462	SO:0001627	intron_variant	0							g.chr5:140176990T>C	AF152480	CCDS54914.1, CCDS64269.1	5q31	2010-11-26				ENSG00000204969		"Cadherins / Protocadherins : Clustered"	8668	other	complex locus constituent	"KIAA0345-like 12"	606308				10380929	Standard	NM_018905		Approved			Q9Y5H9		ENST00000526136.1:c.2388+53T>C	5.37:g.140176990T>C						PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000520672.2_Intron|PCDHA2_ENST00000526136.1_Intron	p.F814S	NM_031495.1	NP_113683.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2547	+								O75287|Q9BTV3	Missense_Mutation	SNP	ENST00000526136.1	37	c.2441T>C	CCDS54914.1	.	.	.	.	.	.	.	.	.	.	t	9.483	1.098788	0.20552	.	.	ENSG00000204969	ENST00000378132	T	0.53206	0.63	3.76	1.31	0.21738	.	17.573500	0.01273	U	0.009503	T	0.30978	0.0782	.	.	.	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.10200	-1.0640	8	.	.	.	.	3.9389	0.09318	0.0:0.2183:0.2511:0.5306	.	814	Q9Y5H9-2	.	S	814	ENSP00000367372:F814S	.	F	+	2	0	PCDHA2	140157174	0.000000	0.05858	0.001000	0.08648	0.018000	0.09664	-0.275000	0.08525	0.174000	0.19809	0.482000	0.46254	TTC		0.299	PCDHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372877.3	NM_018905		10	19	0	0	0	1	0	10	19					C	140176990	T	C	140176990	1	2	435	0	1	0	0	0	0	0	0	0	11524	1783	62	4		4	PCDHA2	5	140176990	Intron	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	936	140176990	40738270	2828	23753											
PCDHA3	56145	broad.mit.edu	37	chr5	140181323	140181323	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ccactgaatattttaccttgGacgttaaaagaaatgatgag	15	12	8	6	1	0	4	0	3	0	1	0	5	0	5	2	1	1	1	2	1	6	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:140181323G>A	ENST00000522353.2	+	1	541	c.541G>A	c.(541-543)Gac>Aac	p.D181N	PCDHA3_ENST00000532566.2_Missense_Mutation_p.D181N|PCDHA2_ENST00000520672.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron	NM_018906.2	NP_061729.1	Q9Y5H8	PCDA3_HUMAN	protocadherin alpha 3	181	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTTTACCTTGGACGTTAAAAG	0.388																																						ENST00000522353.2																			0				NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1)	95						c.(541-543)Gac>Aac									61	65	64					5																	140181323		2203	4300	6503	SO:0001583	missense	0							g.chr5:140181323G>A	AF152481	CCDS54915.1	5q31	2010-11-26				ENSG00000255408		"Cadherins / Protocadherins : Clustered"	8669	other	complex locus constituent	"KIAA0345-like 11"	606309				10380929	Standard	NM_018906		Approved	PCDH-ALPHA3		Q9Y5H8		ENST00000522353.2:c.541G>A	5.37:g.140181323G>A	ENSP00000429808:p.Asp181Asn					PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000532566.2_Missense_Mutation_p.D181N|PCDHA2_ENST00000520672.2_Intron|PCDHA2_ENST00000526136.1_Intron	p.D181N	NM_018906.2	NP_061729.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	541	+								O75286	Missense_Mutation	SNP	ENST00000522353.2	37	c.541G>A	CCDS54915.1	.	.	.	.	.	.	.	.	.	.	N	6.677	0.493479	0.12702	.	.	ENSG00000255408	ENST00000522353;ENST00000532566	T;T	0.52754	0.65;0.65	4.86	3.98	0.46160	Cadherin (4);Cadherin-like (1);	0.416363	0.17448	U	0.173870	T	0.48519	0.1504	L	0.53561	1.675	0.26967	N	0.96567	B;B	0.16396	0.013;0.017	B;B	0.24848	0.056;0.049	T	0.46925	-0.9156	10	0.62326	D	0.03	.	16.5246	0.84327	0.0712:0.0:0.9288:0.0	.	181;181	Q9Y5H8-2;Q9Y5H8	.;PCDA3_HUMAN	N	181	ENSP00000429808:D181N;ENSP00000434086:D181N	ENSP00000429808:D181N	D	+	1	0	PCDHA3	140161507	0.971000	0.33674	0.996000	0.52242	0.221000	0.24807	4.833000	0.62766	0.586000	0.29626	-1.595000	0.00837	GAC		0.388	PCDHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372848.2	NM_018906		14	35	0	0	0	1	0	14	35					A	140181323	G	A	140181323	3	1	435	1	0	0	0	0	1	0	0	0	11525	1174	41	3	543	3	PCDHA3	5	140181323	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	4333	140181323	40733937	2829	23754											
PCDHA3	56145	broad.mit.edu	37	chr5	140182316	140182316	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgagctacgtgtcggtacacGcggagagcggcaaggtgtac	9	6	16	10	6	0	1	0	0	0	1	1	3	0	1	0	4	5	4	0	4	4	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:140182316G>A	ENST00000522353.2	+	1	1534	c.1534G>A	c.(1534-1536)Gcg>Acg	p.A512T	PCDHA3_ENST00000532566.2_Missense_Mutation_p.A512T|PCDHA2_ENST00000520672.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron	NM_018906.2	NP_061729.1	Q9Y5H8	PCDA3_HUMAN	protocadherin alpha 3	512	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTCGGTACACGCGGAGAGCGG	0.701																																						ENST00000522353.2																			0				NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1)	95						c.(1534-1536)Gcg>Acg									75	77	76					5																	140182316		2203	4299	6502	SO:0001583	missense	0							g.chr5:140182316G>A	AF152481	CCDS54915.1	5q31	2010-11-26				ENSG00000255408		"Cadherins / Protocadherins : Clustered"	8669	other	complex locus constituent	"KIAA0345-like 11"	606309				10380929	Standard	NM_018906		Approved	PCDH-ALPHA3		Q9Y5H8		ENST00000522353.2:c.1534G>A	5.37:g.140182316G>A	ENSP00000429808:p.Ala512Thr					PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000532566.2_Missense_Mutation_p.A512T|PCDHA2_ENST00000520672.2_Intron|PCDHA2_ENST00000526136.1_Intron	p.A512T	NM_018906.2	NP_061729.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1534	+								O75286	Missense_Mutation	SNP	ENST00000522353.2	37	c.1534G>A	CCDS54915.1	.	.	.	.	.	.	.	.	.	.	g	15.78	2.934157	0.52866	.	.	ENSG00000255408	ENST00000522353;ENST00000532566	T;T	0.47869	0.83;0.83	4.75	2.79	0.32731	Cadherin (4);Cadherin-like (1);	0.183399	0.25355	U	0.031265	T	0.38852	0.1056	L	0.31526	0.94	0.22292	N	0.999221	P;P	0.52692	0.955;0.653	P;B	0.46320	0.512;0.192	T	0.23511	-1.0186	10	0.62326	D	0.03	.	10.3414	0.43879	0.0:0.1039:0.5561:0.34	.	512;512	Q9Y5H8-2;Q9Y5H8	.;PCDA3_HUMAN	T	512	ENSP00000429808:A512T;ENSP00000434086:A512T	ENSP00000429808:A512T	A	+	1	0	PCDHA3	140162500	0.000000	0.05858	1.000000	0.80357	0.857000	0.48899	-1.305000	0.02738	1.119000	0.41883	0.461000	0.40582	GCG		0.701	PCDHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372848.2	NM_018906		46	52	0	0	0	1	0	46	52					A	140182316	G	A	140182316	3	1	435	1	0	0	0	0	1	0	0	0	11525	1087	38	1	1536	1	PCDHA3	5	140182316	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	993	140182316	40732944	2830	23755											
PCDHA4	56144	broad.mit.edu	37	chr5	140187880	140187880	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccactgggtacagtcatcGccctgatcagcgtgtccgac	7	9	10	15	3	2	1	2	1	0	0	5	2	4	1	3	1	2	1	3	1	1	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:140187880G>A	ENST00000530339.1	+	1	1108	c.1108G>A	c.(1108-1110)Gcc>Acc	p.A370T	PCDHA4_ENST00000356878.4_Missense_Mutation_p.A370T|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Missense_Mutation_p.A370T|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron	NM_018907.2	NP_061730.1	Q9UN74	PCDA4_HUMAN	protocadherin alpha 4	370	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.A370S(2)		breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(6)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TACAGTCATCGCCCTGATCAG	0.493																																						ENST00000530339.1																			2	Substitution - Missense(2)	p.A370S(2)	lung(2)	breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(6)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	78						c.(1108-1110)Gcc>Acc									97	94	95					5																	140187880		2203	4300	6503	SO:0001583	missense	0							g.chr5:140187880G>A	AF152482	CCDS54916.1	5q31	2010-11-26				ENSG00000204967		"Cadherins / Protocadherins : Clustered"	8670	other	complex locus constituent	"ortholog of mouse CNR1, KIAA0345-like 10"	606310				10380929, 10662547	Standard	NM_018907		Approved	CNR1, CRNR1, PCDH-ALPHA4, CNRN1		Q9UN74		ENST00000530339.1:c.1108G>A	5.37:g.140187880G>A	ENSP00000435300:p.Ala370Thr					PCDHA4_ENST00000512229.2_Missense_Mutation_p.A370T|PCDHA1_ENST00000504120.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000356878.4_Missense_Mutation_p.A370T|PCDHA2_ENST00000526136.1_Intron	p.A370T	NM_018907.2	NP_061730.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1108	+								O75285|Q2M253	Missense_Mutation	SNP	ENST00000530339.1	37	c.1108G>A	CCDS54916.1	.	.	.	.	.	.	.	.	.	.	g	14.66	2.600395	0.46423	.	.	ENSG00000204967	ENST00000512229;ENST00000356878;ENST00000530339	T;T;T	0.52754	0.65;0.65;0.65	4.72	4.72	0.59763	Cadherin (3);Cadherin-like (1);	0.000000	0.40302	U	0.001121	T	0.59810	0.2221	M	0.64567	1.98	0.29498	N	0.855113	P;D;D	0.57257	0.853;0.963;0.979	B;P;P	0.53518	0.322;0.728;0.728	T	0.61787	-0.6991	10	0.59425	D	0.04	.	18.0295	0.89278	0.0:0.0:1.0:0.0	.	370;370;370	Q9UN74-2;Q9UN74;D6RA20	.;PCDA4_HUMAN;.	T	370	ENSP00000423470:A370T;ENSP00000349344:A370T;ENSP00000435300:A370T	ENSP00000349344:A370T	A	+	1	0	PCDHA4	140168064	1.000000	0.71417	0.553000	0.28255	0.264000	0.26372	4.379000	0.59575	2.341000	0.79615	0.591000	0.81541	GCC		0.493	PCDHA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372864.2	NM_018907		20	42	0	0	0	1	0	20	42					A	140187880	G	A	140187880	3	1	435	1	0	0	0	0	1	0	0	0	11526	1087	38	1	1110	1	PCDHA4	5	140187880	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	5564	140187880	40727380	2831	23756											
PCDHA4	56144	broad.mit.edu	37	chr5	140188302	140188302	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgtcgagctacgtttcggtGcatgcggagagcggcaaggt	7	9	16	9	5	0	1	0	0	0	1	2	3	0	1	0	4	5	4	0	4	2	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:140188302G>A	ENST00000530339.1	+	1	1530	c.1530G>A	c.(1528-1530)gtG>gtA	p.V510V	PCDHA4_ENST00000356878.4_Silent_p.V510V|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Silent_p.V510V|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron	NM_018907.2	NP_061730.1	Q9UN74	PCDA4_HUMAN	protocadherin alpha 4	510	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(6)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACGTTTCGGTGCATGCGGAGA	0.677																																						ENST00000530339.1																			0				breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(6)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	78						c.(1528-1530)gtG>gtA									71	72	72					5																	140188302		2203	4300	6503	SO:0001819	synonymous_variant	0							g.chr5:140188302G>A	AF152482	CCDS54916.1	5q31	2010-11-26				ENSG00000204967		"Cadherins / Protocadherins : Clustered"	8670	other	complex locus constituent	"ortholog of mouse CNR1, KIAA0345-like 10"	606310				10380929, 10662547	Standard	NM_018907		Approved	CNR1, CRNR1, PCDH-ALPHA4, CNRN1		Q9UN74		ENST00000530339.1:c.1530G>A	5.37:g.140188302G>A						PCDHA4_ENST00000512229.2_Silent_p.V510V|PCDHA1_ENST00000504120.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000356878.4_Silent_p.V510V|PCDHA2_ENST00000526136.1_Intron	p.V510V	NM_018907.2	NP_061730.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1530	+								O75285|Q2M253	Silent	SNP	ENST00000530339.1	37	c.1530G>A	CCDS54916.1																																																																																				0.677	PCDHA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372864.2	NM_018907		21	20	0	0	0	1	0	21	20					A	140188302	G	A	140188302	2	1	435	1	0	0	0	0	0	0	0	1	11526	1306	46	3		3	PCDHA4	5	140188302	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	422	140188302	40726958	2832	23757											
PCDHA4	56144	broad.mit.edu	37	chr5	140188964	140188964	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcgctgcccaccgagggcgCgtgcgctccgggcaagccca	5	4	15	17	6	0	0	0	0	0	0	1	1	1	0	4	2	4	3	4	2	1	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:140188964C>T	ENST00000530339.1	+	1	2192	c.2192C>T	c.(2191-2193)gCg>gTg	p.A731V	PCDHA4_ENST00000356878.4_Missense_Mutation_p.A731V|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Missense_Mutation_p.A731V|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron	NM_018907.2	NP_061730.1	Q9UN74	PCDA4_HUMAN	protocadherin alpha 4	731					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(6)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACCGAGGGCGCGTGCGCTCCG	0.667																																						ENST00000530339.1																			0				breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(6)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	78						c.(2191-2193)gCg>gTg									56	53	54					5																	140188964		2202	4299	6501	SO:0001583	missense	0							g.chr5:140188964C>T	AF152482	CCDS54916.1	5q31	2010-11-26				ENSG00000204967		"Cadherins / Protocadherins : Clustered"	8670	other	complex locus constituent	"ortholog of mouse CNR1, KIAA0345-like 10"	606310				10380929, 10662547	Standard	NM_018907		Approved	CNR1, CRNR1, PCDH-ALPHA4, CNRN1		Q9UN74		ENST00000530339.1:c.2192C>T	5.37:g.140188964C>T	ENSP00000435300:p.Ala731Val					PCDHA4_ENST00000512229.2_Missense_Mutation_p.A731V|PCDHA1_ENST00000504120.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000356878.4_Missense_Mutation_p.A731V|PCDHA2_ENST00000526136.1_Intron	p.A731V	NM_018907.2	NP_061730.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2192	+								O75285|Q2M253	Missense_Mutation	SNP	ENST00000530339.1	37	c.2192C>T	CCDS54916.1	.	.	.	.	.	.	.	.	.	.	c	0.209	-1.038487	0.02013	.	.	ENSG00000204967	ENST00000512229;ENST00000356878;ENST00000530339	T;T;T	0.12361	2.69;2.69;2.69	3.83	-2.37	0.06643	.	0.745147	0.11088	U	0.601135	T	0.06050	0.0157	N	0.20807	0.61	0.09310	N	1	B;B;B	0.15141	0.012;0.003;0.005	B;B;B	0.15484	0.013;0.004;0.002	T	0.41448	-0.9508	10	0.19147	T	0.46	.	2.1366	0.03764	0.149:0.1595:0.1484:0.5432	.	731;731;731	Q9UN74-2;Q9UN74;D6RA20	.;PCDA4_HUMAN;.	V	731	ENSP00000423470:A731V;ENSP00000349344:A731V;ENSP00000435300:A731V	ENSP00000349344:A731V	A	+	2	0	PCDHA4	140169148	0.000000	0.05858	0.001000	0.08648	0.002000	0.02628	-0.250000	0.08830	-0.344000	0.08338	-0.458000	0.05436	GCG		0.667	PCDHA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372864.2	NM_018907		19	30	0	0	0	1	0	19	30					T	140188964	C	T	140188964	3	4	435	1	0	0	0	0	1	0	0	0	11526	768	27	1	2194	1	PCDHA4	5	140188964	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	662	140188964	40726296	2833	23758											
PCDHA5	56143	broad.mit.edu	37	chr5	140201505	140201505	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttcgttggccgcatcgcgCaggacctagggctggagctg	5	8	15	13	4	0	0	0	0	0	0	2	2	0	2	3	4	1	5	3	4	1	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:140201505C>G	ENST00000529859.1	+	1	145	c.145C>G	c.(145-147)Cag>Gag	p.Q49E	PCDHA5_ENST00000378126.3_Missense_Mutation_p.Q49E|PCDHA5_ENST00000529619.1_Missense_Mutation_p.Q49E|PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron	NM_018908.2	NP_061731.1	Q9Y5H7	PCDA5_HUMAN	protocadherin alpha 5	49	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.Q49fs*50(1)		NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(3)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCGCATCGCGCAGGACCTAGG	0.647																																						ENST00000529859.1																			1	Deletion - Frameshift(1)	p.Q49fs*50(1)	breast(1)	NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(3)	60						c.(145-147)Cag>Gag									57	66	63					5																	140201505		2203	4300	6503	SO:0001583	missense	0							g.chr5:140201505C>G	AF152483	CCDS54917.1	5q31	2010-11-26				ENSG00000204965		"Cadherins / Protocadherins : Clustered"	8671	other	complex locus constituent	"ortholog of mouse CNR6", "KIAA0345-like 9"	606311		CNRS6		10380929, 10662547	Standard	NM_018908		Approved	CNR6, CRNR6, CNRN6, PCDH-ALPHA5		Q9Y5H7		ENST00000529859.1:c.145C>G	5.37:g.140201505C>G	ENSP00000436557:p.Gln49Glu					PCDHA4_ENST00000512229.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000378126.3_Missense_Mutation_p.Q49E|PCDHA5_ENST00000529619.1_Missense_Mutation_p.Q49E|PCDHA2_ENST00000526136.1_Intron	p.Q49E	NM_018908.2	NP_061731.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	145	+								O75284|Q8N4R3	Missense_Mutation	SNP	ENST00000529859.1	37	c.145C>G	CCDS54917.1	.	.	.	.	.	.	.	.	.	.	C	14.23	2.474316	0.43942	.	.	ENSG00000204965	ENST00000529619;ENST00000529859;ENST00000378126	T;T;T	0.26810	1.71;1.71;1.71	4.01	4.01	0.46588	Cadherin, N-terminal (1);Cadherin (3);Cadherin-like (1);	.	.	.	.	T	0.39655	0.1086	L	0.52206	1.635	0.27701	N	0.945784	P;P;D	0.56287	0.713;0.82;0.975	B;P;P	0.58620	0.301;0.464;0.842	T	0.13019	-1.0525	9	0.42905	T	0.14	.	13.1573	0.59524	0.1602:0.8397:0.0:0.0	.	49;49;49	Q9Y5H7;Q9Y5H7-3;Q9Y5H7-2	PCDA5_HUMAN;.;.	E	49	ENSP00000433416:Q49E;ENSP00000436557:Q49E;ENSP00000367366:Q49E	ENSP00000367366:Q49E	Q	+	1	0	PCDHA5	140181689	0.019000	0.18553	1.000000	0.80357	0.914000	0.54420	0.362000	0.20284	1.941000	0.56285	0.585000	0.79938	CAG		0.647	PCDHA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372883.2	NM_018908		27	62	0	0	0	1	0	27	62					G	140201505	C	G	140201505	3	3	435	1	0	0	0	0	1	0	0	0	11527	711	25	5	147	5	PCDHA5	5	140201505	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	12541	140201505	40713755	2834	23759											
PCDHA5	56143	broad.mit.edu	37	chr5	140202728	140202728	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacgctccggcgttcgcgcaGccccagtataccgtgttcgt	6	9	11	15	7	0	0	0	0	0	0	3	0	1	0	4	1	3	5	4	1	3	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:140202728G>T	ENST00000529859.1	+	1	1368	c.1368G>T	c.(1366-1368)caG>caT	p.Q456H	PCDHA5_ENST00000378126.3_Missense_Mutation_p.Q456H|PCDHA5_ENST00000529619.1_Missense_Mutation_p.Q456H|PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron	NM_018908.2	NP_061731.1	Q9Y5H7	PCDA5_HUMAN	protocadherin alpha 5	456	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(3)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGTTCGCGCAGCCCCAGTATA	0.672																																						ENST00000529859.1																			0				NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(3)	60						c.(1366-1368)caG>caT									71	73	73					5																	140202728		2203	4300	6503	SO:0001583	missense	0							g.chr5:140202728G>T	AF152483	CCDS54917.1	5q31	2010-11-26				ENSG00000204965		"Cadherins / Protocadherins : Clustered"	8671	other	complex locus constituent	"ortholog of mouse CNR6", "KIAA0345-like 9"	606311		CNRS6		10380929, 10662547	Standard	NM_018908		Approved	CNR6, CRNR6, CNRN6, PCDH-ALPHA5		Q9Y5H7		ENST00000529859.1:c.1368G>T	5.37:g.140202728G>T	ENSP00000436557:p.Gln456His					PCDHA4_ENST00000512229.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000378126.3_Missense_Mutation_p.Q456H|PCDHA5_ENST00000529619.1_Missense_Mutation_p.Q456H|PCDHA2_ENST00000526136.1_Intron	p.Q456H	NM_018908.2	NP_061731.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1368	+								O75284|Q8N4R3	Missense_Mutation	SNP	ENST00000529859.1	37	c.1368G>T	CCDS54917.1	.	.	.	.	.	.	.	.	.	.	G	10.07	1.249275	0.22880	.	.	ENSG00000204965	ENST00000529619;ENST00000529859;ENST00000378126	T;T;T	0.62105	0.05;0.05;0.05	3.86	2.02	0.26589	Cadherin (3);Cadherin-like (1);	.	.	.	.	T	0.64216	0.2578	M	0.67953	2.075	0.09310	N	0.999994	P;P;P	0.45348	0.775;0.856;0.856	P;B;B	0.49683	0.619;0.412;0.412	T	0.52983	-0.8502	9	0.44086	T	0.13	.	5.8419	0.18639	0.1751:0.1584:0.6665:0.0	.	456;456;456	Q9Y5H7;Q9Y5H7-3;Q9Y5H7-2	PCDA5_HUMAN;.;.	H	456	ENSP00000433416:Q456H;ENSP00000436557:Q456H;ENSP00000367366:Q456H	ENSP00000367366:Q456H	Q	+	3	2	PCDHA5	140182912	0.000000	0.05858	0.991000	0.47740	0.348000	0.29142	-0.056000	0.11787	0.231000	0.21079	0.461000	0.40582	CAG		0.672	PCDHA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372883.2	NM_018908		27	33	1	0	2.70662e-09	1	2.87175e-09	27	33					T	140202728	G	T	140202728	3	4	435	1	0	0	0	0	1	0	0	0	11527	962	34	5	1370	5	PCDHA5	5	140202728	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	1223	140202728	40712532	2835	23760											
PCDHA5	56143	broad.mit.edu	37	chr5	140203117	140203117	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggtgccgaggtcagtgggtgCgggccacgtggtggcgaagg	5	6	22	8	4	1	0	1	0	0	0	1	2	1	0	2	7	2	0	2	7	1	0	rs138704270		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:140203117C>T	ENST00000529859.1	+	1	1757	c.1757C>T	c.(1756-1758)gCg>gTg	p.A586V	PCDHA5_ENST00000378126.3_Missense_Mutation_p.A586V|PCDHA5_ENST00000529619.1_Missense_Mutation_p.A586V|PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron	NM_018908.2	NP_061731.1	Q9Y5H7	PCDA5_HUMAN	protocadherin alpha 5	586	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(3)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCAGTGGGTGCGGGCCACGTG	0.682																																						ENST00000529859.1																			0				NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(3)	60						c.(1756-1758)gCg>gTg									60	66	64					5																	140203117		2202	4299	6501	SO:0001583	missense	0							g.chr5:140203117C>T	AF152483	CCDS54917.1	5q31	2010-11-26				ENSG00000204965		"Cadherins / Protocadherins : Clustered"	8671	other	complex locus constituent	"ortholog of mouse CNR6", "KIAA0345-like 9"	606311		CNRS6		10380929, 10662547	Standard	NM_018908		Approved	CNR6, CRNR6, CNRN6, PCDH-ALPHA5		Q9Y5H7		ENST00000529859.1:c.1757C>T	5.37:g.140203117C>T	ENSP00000436557:p.Ala586Val					PCDHA4_ENST00000512229.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000378126.3_Missense_Mutation_p.A586V|PCDHA5_ENST00000529619.1_Missense_Mutation_p.A586V|PCDHA2_ENST00000526136.1_Intron	p.A586V	NM_018908.2	NP_061731.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1757	+								O75284|Q8N4R3	Missense_Mutation	SNP	ENST00000529859.1	37	c.1757C>T	CCDS54917.1	.	.	.	.	.	.	.	.	.	.	C	9.312	1.055746	0.19907	.	.	ENSG00000204965	ENST00000529619;ENST00000529859;ENST00000378126	T;T;T	0.36520	1.25;1.25;1.25	3.87	3.87	0.44632	Cadherin (2);Cadherin-like (1);	.	.	.	.	T	0.28863	0.0716	N	0.25789	0.76	0.21841	N	0.999511	B;B;B	0.23442	0.085;0.046;0.082	B;B;B	0.18263	0.021;0.013;0.013	T	0.16070	-1.0415	9	0.39692	T	0.17	.	16.2362	0.82377	0.0:1.0:0.0:0.0	.	586;586;586	Q9Y5H7;Q9Y5H7-3;Q9Y5H7-2	PCDA5_HUMAN;.;.	V	586	ENSP00000433416:A586V;ENSP00000436557:A586V;ENSP00000367366:A586V	ENSP00000367366:A586V	A	+	2	0	PCDHA5	140183301	0.001000	0.12720	0.631000	0.29282	0.206000	0.24218	0.319000	0.19522	1.887000	0.54652	0.306000	0.20318	GCG		0.682	PCDHA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372883.2	NM_018908		24	34	0	0	0	1	0	24	34					T	140203117	C	T	140203117	3	4	435	1	0	0	0	0	1	0	0	0	11527	768	27	1	1759	1	PCDHA5	5	140203117	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	389	140203117	40712143	2836	23761											
PCDHA6	56142	broad.mit.edu	37	chr5	140209590	140209590	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcaccactcgtgtcctggaCgaagcggactctccgcgcca	8	6	11	16	5	1	0	0	0	1	0	4	3	2	2	4	2	2	1	4	2	1	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:140209590C>T	ENST00000529310.1	+	1	2028	c.1914C>T	c.(1912-1914)gaC>gaT	p.D638D	PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000394633.3_Intron	NM_018909.2|NM_031848.2|NM_031849.1	NP_061732.1|NP_114036.1|NP_114037.1	Q9UN73	PCDA6_HUMAN	protocadherin alpha 6	638	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	89			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTGTCCTGGACGAAGCGGACT	0.667																																						ENST00000529310.1																			0				NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						c.(1912-1914)gaC>gaT									60	68	65					5																	140209590		2203	4300	6503	SO:0001819	synonymous_variant	0							g.chr5:140209590C>T	AF152484	CCDS47281.1, CCDS47282.1	5q31	2010-11-26			ENSG00000081842	ENSG00000081842		"Cadherins / Protocadherins : Clustered"	8672	other	complex locus constituent	"KIAA0345-like 8"	606312		CNRS2		10380929, 10662547	Standard	NM_018909		Approved	CNR2, CRNR2, PCDH-ALPHA6		Q9UN73	OTTHUMG00000163353	ENST00000529310.1:c.1914C>T	5.37:g.140209590C>T						PCDHA4_ENST00000512229.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron	p.D638D	NM_018909.2|NM_031848.1|NM_031849.1	NP_061732.1|NP_114036.1|NP_114037.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2028	+								O75283|Q9NRT8	Silent	SNP	ENST00000529310.1	37	c.1914C>T	CCDS47281.1																																																																																				0.667	PCDHA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372829.3	NM_018909		27	58	0	0	0	1	0	27	58					T	140209590	C	T	140209590	2	4	435	1	0	0	0	0	0	0	0	1	11528	535	19	1		1	PCDHA6	5	140209590	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	6473	140209590	40705670	2837	23762											
PCDHA8	56140	broad.mit.edu	37	chr5	140222014	140222014	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcaatttggtactgtcatcGccctaattagcgtgaacgac	10	12	8	11	3	2	1	2	1	0	0	3	2	2	1	1	1	3	1	1	1	5	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:140222014G>A	ENST00000531613.1	+	1	1108	c.1108G>A	c.(1108-1110)Gcc>Acc	p.A370T	PCDHA8_ENST00000378123.3_Missense_Mutation_p.A370T|PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000394633.3_Intron	NM_018911.2	NP_061734.1	Q9Y5H6	PCDA8_HUMAN	protocadherin alpha 8	370	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.A370T(2)		NS(2)|breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(31)|ovary(2)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(6)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TACTGTCATCGCCCTAATTAG	0.488																																						ENST00000531613.1																			2	Substitution - Missense(2)	p.A370T(2)	large_intestine(2)	NS(2)|breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(31)|ovary(2)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(6)	78						c.(1108-1110)Gcc>Acc									118	109	112					5																	140222014		2203	4297	6500	SO:0001583	missense	0							g.chr5:140222014G>A	AF152486	CCDS54919.1	5q31	2010-11-26				ENSG00000204962		"Cadherins / Protocadherins : Clustered"	8674	other	complex locus constituent	"KIAA0345-like 6"	606314				10380929	Standard	NM_018911		Approved			Q9Y5H6		ENST00000531613.1:c.1108G>A	5.37:g.140222014G>A	ENSP00000434655:p.Ala370Thr					PCDHA7_ENST00000525929.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA8_ENST00000378123.3_Missense_Mutation_p.A370T|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron	p.A370T	NM_018911.2	NP_061734.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1108	+								B9EGT7|O75281	Missense_Mutation	SNP	ENST00000531613.1	37	c.1108G>A	CCDS54919.1	.	.	.	.	.	.	.	.	.	.	G	29.2	4.983412	0.93044	.	.	ENSG00000204962	ENST00000531613;ENST00000378123	T;T	0.01804	4.63;4.63	3.57	2.66	0.31614	Cadherin (3);Cadherin-like (1);	0.000000	0.36482	U	0.002579	T	0.05593	0.0147	L	0.58302	1.8	0.27539	N	0.950869	D;D	0.69078	0.979;0.997	P;P	0.57548	0.823;0.799	T	0.05305	-1.0893	10	0.59425	D	0.04	.	12.1706	0.54157	0.0:0.0:0.8271:0.1728	.	370;370	Q9Y5H6;Q9Y5H6-2	PCDA8_HUMAN;.	T	370	ENSP00000434655:A370T;ENSP00000367363:A370T	ENSP00000367363:A370T	A	+	1	0	PCDHA8	140202198	1.000000	0.71417	0.426000	0.26672	0.663000	0.39108	3.998000	0.57024	0.581000	0.29539	0.306000	0.20318	GCC		0.488	PCDHA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372830.2	NM_018911		46	62	0	0	0	1	0	46	62					A	140222014	G	A	140222014	3	1	435	1	0	0	0	0	1	0	0	0	11530	1087	38	1	1110	1	PCDHA8	5	140222014	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	12424	140222014	40693246	2838	23763											
PCDHA8	56140	broad.mit.edu	37	chr5	140222774	140222774	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagccctcgcatcccgttccGcgtggggctgtacacgggcg	4	7	14	16	6	0	0	0	0	0	0	3	0	2	0	3	3	2	4	3	3	1	2	rs200720426		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:140222774G>A	ENST00000531613.1	+	1	1868	c.1868G>A	c.(1867-1869)cGc>cAc	p.R623H	PCDHA8_ENST00000378123.3_Missense_Mutation_p.R623H|PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000394633.3_Intron	NM_018911.2	NP_061734.1	Q9Y5H6	PCDA8_HUMAN	protocadherin alpha 8	623	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.R623H(2)		NS(2)|breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(31)|ovary(2)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(6)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATCCCGTTCCGCGTGGGGCTG	0.642																																						ENST00000531613.1																			2	Substitution - Missense(2)	p.R623H(2)	lung(2)	NS(2)|breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(31)|ovary(2)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(6)	78						c.(1867-1869)cGc>cAc									99	98	99					5																	140222774		2198	4271	6469	SO:0001583	missense	0							g.chr5:140222774G>A	AF152486	CCDS54919.1	5q31	2010-11-26				ENSG00000204962		"Cadherins / Protocadherins : Clustered"	8674	other	complex locus constituent	"KIAA0345-like 6"	606314				10380929	Standard	NM_018911		Approved			Q9Y5H6		ENST00000531613.1:c.1868G>A	5.37:g.140222774G>A	ENSP00000434655:p.Arg623His					PCDHA7_ENST00000525929.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA8_ENST00000378123.3_Missense_Mutation_p.R623H|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron	p.R623H	NM_018911.2	NP_061734.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1868	+								B9EGT7|O75281	Missense_Mutation	SNP	ENST00000531613.1	37	c.1868G>A	CCDS54919.1	.	.	.	.	.	.	.	.	.	.	G	11.71	1.719768	0.30503	.	.	ENSG00000204962	ENST00000531613;ENST00000378123	T;T	0.55413	0.52;0.52	2.93	2.93	0.34026	Cadherin (4);Cadherin-like (1);	0.000000	0.32533	U	0.005979	T	0.48132	0.1483	M	0.75615	2.305	0.25180	N	0.990217	P;P	0.41748	0.469;0.761	B;B	0.35278	0.12;0.199	T	0.53851	-0.8380	10	0.66056	D	0.02	.	10.5457	0.45058	0.0:0.1973:0.8027:0.0	.	623;623	Q9Y5H6;Q9Y5H6-2	PCDA8_HUMAN;.	H	623	ENSP00000434655:R623H;ENSP00000367363:R623H	ENSP00000367363:R623H	R	+	2	0	PCDHA8	140202958	0.000000	0.05858	0.998000	0.56505	0.072000	0.16883	0.223000	0.17719	1.624000	0.50355	0.313000	0.20887	CGC		0.642	PCDHA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372830.2	NM_018911		38	60	0	0	0	1	0	38	60					A	140222774	G	A	140222774	3	1	435	1	0	0	0	0	1	0	0	0	11530	1087	38	1	1870	1	PCDHA8	5	140222774	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	760	140222774	40692486	2839	23764											
PCDHA10	56139	broad.mit.edu	37	chr5	140237600	140237600	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtgaaggaccatggcgagcCgtcgctgacggccacggcca	8	4	16	13	5	0	2	0	2	0	0	1	4	0	3	4	5	1	1	4	5	1	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:140237600C>T	ENST00000307360.5	+	1	1967	c.1967C>T	c.(1966-1968)cCg>cTg	p.P656L	PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA1_ENST00000394633.3_Intron	NM_018901.2	NP_061724.1	Q9Y5I2	PCDAA_HUMAN	protocadherin alpha 10	656	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	79			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CATGGCGAGCCGTCGCTGACG	0.682																																						ENST00000307360.5																			0				NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	79						c.(1966-1968)cCg>cTg									16	21	19					5																	140237600		1322	2282	3604	SO:0001583	missense	0							g.chr5:140237600C>T	AF152475	CCDS34255.1, CCDS54921.1, CCDS75325.1	5q31	2010-11-26			ENSG00000250120	ENSG00000250120		"Cadherins / Protocadherins : Clustered"	8664	other	complex locus constituent	"KIAA0345-like 4", "ortholog to mouse CNR8"	606316		CNRS8		10380929	Standard	NM_018901		Approved	CNR8, CRNR8, CNRN8, PCDH-ALPHA10		Q9Y5I2	OTTHUMG00000163372	ENST00000307360.5:c.1967C>T	5.37:g.140237600C>T	ENSP00000304234:p.Pro656Leu					PCDHA7_ENST00000525929.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron	p.P656L	NM_018901.2|NM_031859.1	NP_061724.1|NP_114065.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1967	+								A1L493|O75280|Q9NRU2	Missense_Mutation	SNP	ENST00000307360.5	37	c.1967C>T	CCDS54921.1	.	.	.	.	.	.	.	.	.	.	C	13.75	2.331371	0.41297	.	.	ENSG00000250120	ENST00000307360	T	0.57436	0.4	3.49	3.49	0.39957	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.79816	0.4511	H	0.95504	3.68	0.47094	D	0.999315	D;D	0.89917	1.0;1.0	D;D	0.77557	0.988;0.99	D	0.87182	0.2228	9	0.87932	D	0	.	15.5185	0.75846	0.0:1.0:0.0:0.0	.	656;656	Q9Y5I2-3;Q9Y5I2	.;PCDAA_HUMAN	L	656	ENSP00000304234:P656L	ENSP00000304234:P656L	P	+	2	0	PCDHA10	140217784	0.003000	0.15002	0.984000	0.44739	0.193000	0.23685	1.369000	0.34227	1.932000	0.55993	0.491000	0.48974	CCG		0.682	PCDHA10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372895.2	NM_018901		7	12	0	0	0	1	0	7	12					T	140237600	C	T	140237600	3	4	435	1	0	0	0	0	1	0	0	0	11520	652	23	2	1969	2	PCDHA10	5	140237600	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	14826	140237600	40677660	2840	23765											
PCDHA11	56138	broad.mit.edu	37	chr5	140249998	140249998	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcgccttctctgtgggccaCggccagggtatccgtggagg	4	10	15	12	3	1	0	0	0	1	0	4	1	2	1	4	5	0	1	4	5	1	3	rs200037363		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:140249998C>T	ENST00000398640.2	+	1	1310	c.1310C>T	c.(1309-1311)aCg>aTg	p.T437M	PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA1_ENST00000394633.3_Intron	NM_018902.3	NP_061725.1	Q9Y5I1	PCDAB_HUMAN	protocadherin alpha 11	437	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			breast(1)|lung(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGTGGGCCACGGCCAGGGTA	0.637																																						ENST00000398640.2																			0				breast(1)|lung(1)	2						c.(1309-1311)aCg>aTg									128	137	134					5																	140249998		2203	4300	6503	SO:0001583	missense	0							g.chr5:140249998C>T	AF152476	CCDS47284.1, CCDS75326.1	5q31	2010-11-26			ENSG00000249158	ENSG00000249158		"Cadherins / Protocadherins : Clustered"	8665	other	complex locus constituent	"KIAA0345-like 3", "ortholog of mouse CNR7"	606317		CNRS7		10380929, 10662547	Standard	NM_018902		Approved	CNR7, CRNR7, CNRN7, PCDH-ALPHA11		Q9Y5I1	OTTHUMG00000163369	ENST00000398640.2:c.1310C>T	5.37:g.140249998C>T	ENSP00000381636:p.Thr437Met					PCDHA7_ENST00000525929.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA8_ENST00000531613.1_Intron	p.T437M	NM_018902.3	NP_061725.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1310	+								B2RN58|O75279	Missense_Mutation	SNP	ENST00000398640.2	37	c.1310C>T	CCDS47284.1	.	.	.	.	.	.	.	.	.	.	C	14.20	2.465220	0.43839	.	.	ENSG00000249158	ENST00000398640	T	0.57107	0.42	5.66	5.66	0.87406	Cadherin (5);Cadherin-like (1);	.	.	.	.	T	0.74520	0.3727	M	0.86953	2.85	0.09310	N	0.999995	D;D	0.69078	0.993;0.997	P;P	0.57468	0.821;0.77	T	0.69978	-0.4998	9	0.66056	D	0.02	.	19.417	0.94704	0.0:1.0:0.0:0.0	.	437;437	Q9Y5I1-2;Q9Y5I1	.;PCDAB_HUMAN	M	437	ENSP00000381636:T437M	ENSP00000381636:T437M	T	+	2	0	PCDHA11	140230182	0.000000	0.05858	0.444000	0.26895	0.598000	0.36846	-0.414000	0.07114	2.676000	0.91093	0.558000	0.71614	ACG		0.637	PCDHA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372885.2	NM_018902		60	85	0	0	0	1	0	60	85					T	140249998	C	T	140249998	3	4	435	1	0	0	0	0	1	0	0	0	11521	536	19	1	1312	1	PCDHA11	5	140249998	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	12398	140249998	40665262	2841	23766											
PCDHA11	56138	broad.mit.edu	37	chr5	140250190	140250190	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagcggcggttgggcgaccGcgcgctgtcgagctacgtgt	4	7	19	11	8	0	0	0	0	0	0	1	3	0	1	1	4	3	3	1	4	1	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:140250190G>A	ENST00000398640.2	+	1	1502	c.1502G>A	c.(1501-1503)cGc>cAc	p.R501H	PCDHA5_ENST00000529859.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron	NM_018902.3	NP_061725.1	Q9Y5I1	PCDAB_HUMAN	protocadherin alpha 11	501	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			breast(1)|lung(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTGGGCGACCGCGCGCTGTCG	0.682																																						ENST00000398640.2																			0				breast(1)|lung(1)	2						c.(1501-1503)cGc>cAc									63	69	67					5																	140250190		2203	4298	6501	SO:0001583	missense	0							g.chr5:140250190G>A	AF152476	CCDS47284.1, CCDS75326.1	5q31	2010-11-26			ENSG00000249158	ENSG00000249158		"Cadherins / Protocadherins : Clustered"	8665	other	complex locus constituent	"KIAA0345-like 3", "ortholog of mouse CNR7"	606317		CNRS7		10380929, 10662547	Standard	NM_018902		Approved	CNR7, CRNR7, CNRN7, PCDH-ALPHA11		Q9Y5I1	OTTHUMG00000163369	ENST00000398640.2:c.1502G>A	5.37:g.140250190G>A	ENSP00000381636:p.Arg501His					PCDHA7_ENST00000525929.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA8_ENST00000531613.1_Intron	p.R501H	NM_018902.3	NP_061725.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1502	+								B2RN58|O75279	Missense_Mutation	SNP	ENST00000398640.2	37	c.1502G>A	CCDS47284.1	.	.	.	.	.	.	.	.	.	.	G	12.37	1.916304	0.33815	.	.	ENSG00000249158	ENST00000398640	T	0.60920	0.15	5.33	5.33	0.75918	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.47893	0.1470	L	0.39397	1.21	0.09310	N	1	P;P	0.39665	0.586;0.682	B;B	0.33960	0.14;0.173	T	0.48281	-0.9049	9	0.48119	T	0.1	.	13.6334	0.62208	0.0:0.0:0.8449:0.1551	.	501;501	Q9Y5I1-2;Q9Y5I1	.;PCDAB_HUMAN	H	501	ENSP00000381636:R501H	ENSP00000381636:R501H	R	+	2	0	PCDHA11	140230374	0.000000	0.05858	0.946000	0.38457	0.914000	0.54420	0.069000	0.14552	2.501000	0.84356	0.556000	0.70494	CGC		0.682	PCDHA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372885.2	NM_018902		27	58	0	0	0	1	0	27	58					A	140250190	G	A	140250190	3	1	435	1	0	0	0	0	1	0	0	0	11521	1087	38	1	1504	1	PCDHA11	5	140250190	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	192	140250190	40665070	2842	23767											
PCDHA11	56138	broad.mit.edu	37	chr5	140250616	140250616	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggacgaggcagactcgccgcGccaccgacttctagtactgg	8	6	13	14	5	1	1	0	0	1	1	2	4	1	2	3	3	1	2	3	3	2	3	rs543880939		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:140250616G>A	ENST00000398640.2	+	1	1928	c.1928G>A	c.(1927-1929)cGc>cAc	p.R643H	PCDHA5_ENST00000529859.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron	NM_018902.3	NP_061725.1	Q9Y5I1	PCDAB_HUMAN	protocadherin alpha 11	643	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			breast(1)|lung(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GACTCGCCGCGCCACCGACTT	0.687													.|||	1	0.000199681	0	0	5008	,	,		14666	0		0	False		,,,				2504	0.001					ENST00000398640.2																			0				breast(1)|lung(1)	2						c.(1927-1929)cGc>cAc									37	43	41					5																	140250616		2203	4298	6501	SO:0001583	missense	0							g.chr5:140250616G>A	AF152476	CCDS47284.1, CCDS75326.1	5q31	2010-11-26			ENSG00000249158	ENSG00000249158		"Cadherins / Protocadherins : Clustered"	8665	other	complex locus constituent	"KIAA0345-like 3", "ortholog of mouse CNR7"	606317		CNRS7		10380929, 10662547	Standard	NM_018902		Approved	CNR7, CRNR7, CNRN7, PCDH-ALPHA11		Q9Y5I1	OTTHUMG00000163369	ENST00000398640.2:c.1928G>A	5.37:g.140250616G>A	ENSP00000381636:p.Arg643His					PCDHA7_ENST00000525929.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA8_ENST00000531613.1_Intron	p.R643H	NM_018902.3	NP_061725.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1928	+								B2RN58|O75279	Missense_Mutation	SNP	ENST00000398640.2	37	c.1928G>A	CCDS47284.1	.	.	.	.	.	.	.	.	.	.	G	3.614	-0.078974	0.07141	.	.	ENSG00000249158	ENST00000398640	T	0.52754	0.65	4.57	2.7	0.31948	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.43986	0.1272	L	0.53780	1.695	0.09310	N	1	B;B	0.25351	0.102;0.124	B;B	0.27715	0.049;0.082	T	0.41288	-0.9517	9	0.72032	D	0.01	.	9.8644	0.41134	0.1771:0.0:0.8229:0.0	.	643;643	Q9Y5I1-2;Q9Y5I1	.;PCDAB_HUMAN	H	643	ENSP00000381636:R643H	ENSP00000381636:R643H	R	+	2	0	PCDHA11	140230800	0.000000	0.05858	0.062000	0.19696	0.010000	0.07245	0.079000	0.14782	0.334000	0.23590	0.556000	0.70494	CGC		0.687	PCDHA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372885.2	NM_018902		23	37	0	0	0	1	0	23	37					A	140250616	G	A	140250616	3	1	435	1	0	0	0	0	1	0	0	0	11521	1087	38	1	1930	1	PCDHA11	5	140250616	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	426	140250616	40664644	2843	23768											
PCDHA11	56138	broad.mit.edu	37	chr5	140250647	140250647	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctagtactggtgaaggatcaCggtgagccggcgctgacggc	8	7	16	10	4	1	3	1	3	0	0	1	4	1	4	1	5	2	2	1	5	3	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:140250647C>T	ENST00000398640.2	+	1	1959	c.1959C>T	c.(1957-1959)caC>caT	p.H653H	PCDHA5_ENST00000529859.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron	NM_018902.3	NP_061725.1	Q9Y5I1	PCDAB_HUMAN	protocadherin alpha 11	653	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			breast(1)|lung(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGAAGGATCACGGTGAGCCGG	0.677																																						ENST00000398640.2																			0				breast(1)|lung(1)	2						c.(1957-1959)caC>caT									33	38	36					5																	140250647		2202	4297	6499	SO:0001819	synonymous_variant	0							g.chr5:140250647C>T	AF152476	CCDS47284.1, CCDS75326.1	5q31	2010-11-26			ENSG00000249158	ENSG00000249158		"Cadherins / Protocadherins : Clustered"	8665	other	complex locus constituent	"KIAA0345-like 3", "ortholog of mouse CNR7"	606317		CNRS7		10380929, 10662547	Standard	NM_018902		Approved	CNR7, CRNR7, CNRN7, PCDH-ALPHA11		Q9Y5I1	OTTHUMG00000163369	ENST00000398640.2:c.1959C>T	5.37:g.140250647C>T						PCDHA7_ENST00000525929.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA8_ENST00000531613.1_Intron	p.H653H	NM_018902.3	NP_061725.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1959	+								B2RN58|O75279	Silent	SNP	ENST00000398640.2	37	c.1959C>T	CCDS47284.1																																																																																				0.677	PCDHA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372885.2	NM_018902		25	31	0	0	0	1	0	25	31					T	140250647	C	T	140250647	2	4	435	1	0	0	0	0	0	0	0	1	11521	535	19	1		1	PCDHA11	5	140250647	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	31	140250647	40664613	2844	23769											
PCDHA12	56137	broad.mit.edu	37	chr5	140256125	140256125	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtaatggttacttcactgtcGctccctgtgcaagaggatgc	8	12	11	10	1	1	1	1	0	0	1	3	2	2	2	1	2	3	4	1	2	3	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:140256125G>A	ENST00000398631.2	+	1	1068	c.1068G>A	c.(1066-1068)tcG>tcA	p.S356S	PCDHA5_ENST00000529859.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron	NM_018903.2|NM_031864.2	NP_061726.1|NP_114070.1	Q9UN75	PCDAC_HUMAN	protocadherin alpha 12	356	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(4)|breast(2)|cervix(1)|endometrium(19)|kidney(8)|large_intestine(8)|liver(2)|lung(25)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTTCACTGTCGCTCCCTGTGC	0.517																																					Pancreas(113;759 1672 13322 24104 50104)	ENST00000398631.2																			0				NS(4)|breast(2)|cervix(1)|endometrium(19)|kidney(8)|large_intestine(8)|liver(2)|lung(25)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	78						c.(1066-1068)tcG>tcA									88	90	90					5																	140256125		2203	4300	6503	SO:0001819	synonymous_variant	0							g.chr5:140256125G>A	AF152477	CCDS47285.1, CCDS75327.1	5q31	2010-11-26			ENSG00000251664	ENSG00000251664		"Cadherins / Protocadherins : Clustered"	8666	other	complex locus constituent	"KIAA0345-like 2"	606318				10380929	Standard	NM_018903		Approved	PCDH-ALPHA12	uc003lic.2	Q9UN75	OTTHUMG00000163366	ENST00000398631.2:c.1068G>A	5.37:g.140256125G>A						PCDHA7_ENST00000525929.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA8_ENST00000531613.1_Intron	p.S356S	NM_018903.2|NM_031864.1	NP_061726.1|NP_114070.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1068	+								O75278|Q2M1N8	Silent	SNP	ENST00000398631.2	37	c.1068G>A	CCDS47285.1																																																																																				0.517	PCDHA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372882.2	NM_018903		16	28	0	0	0	1	0	16	28					A	140256125	G	A	140256125	2	1	435	1	0	0	0	0	0	0	0	1	11522	1074	38	1		1	PCDHA12	5	140256125	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	5478	140256125	40659135	2845	23770											
PCDHA13	56136	broad.mit.edu	37	chr5	140263357	140263357	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tggagcggcgggtgggcgagCgtgcgctgtcgagctacgtg	4	7	21	9	7	0	0	0	0	0	0	1	3	0	1	0	4	5	2	0	4	1	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:140263357C>T	ENST00000289272.2	+	1	1504	c.1504C>T	c.(1504-1506)Cgt>Tgt	p.R502C	PCDHA5_ENST00000529859.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA13_ENST00000409494.1_Missense_Mutation_p.R502C|PCDHA12_ENST00000398631.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron	NM_018904.2|NM_031865.1	NP_061727.1|NP_114071.1	Q9Y5I0	PCDAD_HUMAN	protocadherin alpha 13	502	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|biliary_tract(2)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(18)|liver(3)|lung(23)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGTGGGCGAGCGTGCGCTGTC	0.672																																					Melanoma(147;1739 1852 5500 27947 37288)	ENST00000289272.2																			0				NS(1)|biliary_tract(2)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(18)|liver(3)|lung(23)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	95						c.(1504-1506)Cgt>Tgt									59	59	59					5																	140263357		2203	4299	6502	SO:0001583	missense	0							g.chr5:140263357C>T	AF152478	CCDS4240.1	5q31	2010-11-26			ENSG00000239389	ENSG00000239389		"Cadherins / Protocadherins : Clustered"	8667	other	complex locus constituent	"KIAA0345-like 1", "ortholog of mouse CNR5"	606319		CNRS5		10380929, 10662547	Standard	NM_018904		Approved	CNR5, CRNR5, CNRN5, PCDH-ALPHA13		Q9Y5I0	OTTHUMG00000129614	ENST00000289272.2:c.1504C>T	5.37:g.140263357C>T	ENSP00000289272:p.Arg502Cys					PCDHA7_ENST00000525929.1_Intron|PCDHA13_ENST00000409494.1_Missense_Mutation_p.R502C|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA8_ENST00000531613.1_Intron	p.R502C	NM_018904.2|NM_031865.1	NP_061727.1|NP_114071.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1504	+								O75277	Missense_Mutation	SNP	ENST00000289272.2	37	c.1504C>T	CCDS4240.1	.	.	.	.	.	.	.	.	.	.	C	12.15	1.850756	0.32699	.	.	ENSG00000239389	ENST00000409494;ENST00000289272	T;T	0.61274	0.12;0.12	4.62	4.62	0.57501	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.73497	0.3594	M	0.69523	2.12	0.21416	N	0.999693	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.75484	0.986;0.964;0.959	T	0.63589	-0.6603	9	0.54805	T	0.06	.	12.4203	0.55516	0.1681:0.8319:0.0:0.0	.	502;502;502	Q9Y5I0;C9JA99;Q9Y5I0-2	PCDAD_HUMAN;.;.	C	502	ENSP00000386821:R502C;ENSP00000289272:R502C	ENSP00000289272:R502C	R	+	1	0	PCDHA13	140243541	0.997000	0.39634	0.987000	0.45799	0.538000	0.34931	1.852000	0.39348	2.386000	0.81285	0.556000	0.70494	CGT		0.672	PCDHA13-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335000.1	NM_018904		34	37	0	0	0	1	0	34	37					T	140263357	C	T	140263357	3	4	435	1	0	0	0	0	1	0	0	0	11523	768	27	1	1506	1	PCDHA13	5	140263357	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	7232	140263357	40651903	2846	23771											
PCDHA13	56136	broad.mit.edu	37	chr5	140263536	140263536	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtgctggacgagaacgacaaCgctccggcgctgctgacgcc	8	5	14	14	6	0	2	0	1	0	1	1	5	1	3	2	2	4	4	2	2	2	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:140263536C>T	ENST00000289272.2	+	1	1683	c.1683C>T	c.(1681-1683)aaC>aaT	p.N561N	PCDHA5_ENST00000529859.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA13_ENST00000409494.1_Silent_p.N561N|PCDHA12_ENST00000398631.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron	NM_018904.2|NM_031865.1	NP_061727.1|NP_114071.1	Q9Y5I0	PCDAD_HUMAN	protocadherin alpha 13	561	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|biliary_tract(2)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(18)|liver(3)|lung(23)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGAACGACAACGCTCCGGCGC	0.697																																					Melanoma(147;1739 1852 5500 27947 37288)	ENST00000289272.2																			0				NS(1)|biliary_tract(2)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(18)|liver(3)|lung(23)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	95						c.(1681-1683)aaC>aaT									58	65	63					5																	140263536		2203	4296	6499	SO:0001819	synonymous_variant	0							g.chr5:140263536C>T	AF152478	CCDS4240.1	5q31	2010-11-26			ENSG00000239389	ENSG00000239389		"Cadherins / Protocadherins : Clustered"	8667	other	complex locus constituent	"KIAA0345-like 1", "ortholog of mouse CNR5"	606319		CNRS5		10380929, 10662547	Standard	NM_018904		Approved	CNR5, CRNR5, CNRN5, PCDH-ALPHA13		Q9Y5I0	OTTHUMG00000129614	ENST00000289272.2:c.1683C>T	5.37:g.140263536C>T						PCDHA7_ENST00000525929.1_Intron|PCDHA13_ENST00000409494.1_Silent_p.N561N|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA8_ENST00000531613.1_Intron	p.N561N	NM_018904.2|NM_031865.1	NP_061727.1|NP_114071.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1683	+								O75277	Silent	SNP	ENST00000289272.2	37	c.1683C>T	CCDS4240.1																																																																																				0.697	PCDHA13-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335000.1	NM_018904		35	63	0	0	0	1	0	35	63					T	140263536	C	T	140263536	2	4	435	1	0	0	0	0	0	0	0	1	11523	535	19	1		1	PCDHA13	5	140263536	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	179	140263536	40651724	2847	23772											
PCDHAC1	56135	broad.mit.edu	37	chr5	140307447	140307447	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tctttggtttagctagcaccGctaaactgctggtggaggtg	7	13	13	8	1	1	0	0	0	1	0	1	1	1	1	1	4	4	5	1	4	4	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:140307447G>A	ENST00000253807.2	+	1	970	c.970G>A	c.(970-972)Gct>Act	p.A324T	PCDHA5_ENST00000529859.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHAC1_ENST00000409700.3_Missense_Mutation_p.A324T|PCDHA8_ENST00000531613.1_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron	NM_018898.3	NP_061721.2	Q9H158	PCDC1_HUMAN	protocadherin alpha subfamily C, 1	324	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(2)|breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|liver(2)|lung(13)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	65			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGCTAGCACCGCTAAACTGCT	0.567																																						ENST00000253807.2																			0				NS(2)|breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|liver(2)|lung(13)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	65						c.(970-972)Gct>Act									181	163	169					5																	140307447		2203	4300	6503	SO:0001583	missense	0							g.chr5:140307447G>A	AF152473	CCDS4241.1	5q31	2010-11-26			ENSG00000248383	ENSG00000248383		"Cadherins / Protocadherins : Clustered"	8676	other	complex locus constituent	"PCDH-ALPHA-C1"	606320				10380929	Standard	NM_018898		Approved			Q9H158	OTTHUMG00000129603	ENST00000253807.2:c.970G>A	5.37:g.140307447G>A	ENSP00000253807:p.Ala324Thr					PCDHA7_ENST00000525929.1_Intron|PCDHAC1_ENST00000409700.3_Missense_Mutation_p.A324T|PCDHA13_ENST00000409494.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA8_ENST00000531613.1_Intron	p.A324T	NM_018898.3	NP_061721.2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	970	+								Q9Y5F5|Q9Y5I5	Missense_Mutation	SNP	ENST00000253807.2	37	c.970G>A	CCDS4241.1	.	.	.	.	.	.	.	.	.	.	G	11.47	1.646883	0.29246	.	.	ENSG00000248383	ENST00000409700;ENST00000253807	T;T	0.50548	0.74;0.74	5.53	2.74	0.32292	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.34687	0.0906	L	0.27944	0.81	0.09310	N	1	B;B	0.21309	0.04;0.054	B;B	0.20184	0.028;0.026	T	0.27640	-1.0068	9	0.52906	T	0.07	.	9.879	0.41222	0.2239:0.0:0.7761:0.0	.	324;324	Q9H158;Q9H158-2	PCDC1_HUMAN;.	T	324	ENSP00000386356:A324T;ENSP00000253807:A324T	ENSP00000253807:A324T	A	+	1	0	PCDHAC1	140287631	0.000000	0.05858	0.015000	0.15790	0.766000	0.43426	-0.160000	0.10041	0.676000	0.31285	0.462000	0.41574	GCT		0.567	PCDHAC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251798.1	NM_018898		47	66	0	0	0	1	0	47	66					A	140307447	G	A	140307447	3	1	435	1	0	0	0	0	1	0	0	0	11532	1087	38	1	972	1	PCDHAC1	5	140307447	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	43911	140307447	40607813	2848	23773											
PCDHAC2	56134	broad.mit.edu	37	chr5	140347577	140347577	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gggtctggaggccacactgcCtttccgactgaatggctttg	6	11	13	11	1	1	1	0	1	1	0	2	3	2	2	3	4	1	1	3	4	1	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:140347577C>A	ENST00000289269.5	+	1	1758	c.1226C>A	c.(1225-1227)cCt>cAt	p.P409H	PCDHA5_ENST00000529859.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHAC1_ENST00000253807.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron	NM_018899.5|NM_031883.2	NP_061722.1|NP_114089.1	Q9Y5I4	PCDC2_HUMAN	protocadherin alpha subfamily C, 2	409	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCCACACTGCCTTTCCGACTG	0.567																																					Melanoma(190;638 2083 3390 11909 52360)	ENST00000289269.5																			0				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45						c.(1225-1227)cCt>cAt									91	86	87					5																	140347577		2203	4300	6503	SO:0001583	missense	0				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	g.chr5:140347577C>A	AF152474	CCDS4242.1	5q31	2010-11-26			ENSG00000243232	ENSG00000243232		"Cadherins / Protocadherins : Clustered"	8677	other	complex locus constituent		606321				10380929	Standard	NM_031883		Approved	PCDH-ALPHA-C2		Q9Y5I4	OTTHUMG00000129607	ENST00000289269.5:c.1226C>A	5.37:g.140347577C>A	ENSP00000289269:p.Pro409His					PCDHA7_ENST00000525929.1_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHAC1_ENST00000253807.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA8_ENST00000531613.1_Intron	p.P409H	NM_018899.5|NM_031883.2	NP_061722.1|NP_114089.1	Q9Y5I4	PCDC2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1758	+			409			Cadherin 4.		Q2M3V1|Q9Y5F4	Missense_Mutation	SNP	ENST00000289269.5	37	c.1226C>A	CCDS4242.1	.	.	.	.	.	.	.	.	.	.	C	10.67	1.415370	0.25552	.	.	ENSG00000243232	ENST00000289269	T	0.50813	0.73	5.82	4.95	0.65309	Cadherin (4);Cadherin-like (1);	0.000000	0.41712	D	0.000831	T	0.69278	0.3093	M	0.79475	2.455	0.54753	D	0.999986	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.74253	-0.3725	10	0.87932	D	0	.	14.6389	0.68708	0.0:0.9303:0.0:0.0697	.	409;409	Q9Y5I4-2;Q9Y5I4	.;PCDC2_HUMAN	H	409	ENSP00000289269:P409H	ENSP00000289269:P409H	P	+	2	0	PCDHAC2	140327761	1.000000	0.71417	0.986000	0.45419	0.015000	0.08874	3.715000	0.54897	1.465000	0.48006	0.655000	0.94253	CCT		0.567	PCDHAC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251802.2	NM_018899		20	43	1	0	5.35267e-07	1	5.59292e-07	20	43					A	140347577	C	A	140347577	3	1	435	1	0	0	0	0	1	0	0	0	11533	681	24	5	1228	5	PCDHAC2	5	140347577	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	40130	140347577	40567683	2849	23774											
PCDHAC2	56134	broad.mit.edu	37	chr5	140348229	140348229	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttttttaccatctagcccaGacttctgacctggacctctt	7	15	5	14	0	3	2	0	1	3	1	3	3	3	3	4	1	2	0	4	1	2	6			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:140348229G>T	ENST00000289269.5	+	1	2410	c.1878G>T	c.(1876-1878)caG>caT	p.Q626H	PCDHA5_ENST00000529859.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHAC1_ENST00000253807.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron	NM_018899.5|NM_031883.2	NP_061722.1|NP_114089.1	Q9Y5I4	PCDC2_HUMAN	protocadherin alpha subfamily C, 2	626	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATCTAGCCCAGACTTCTGACC	0.507																																					Melanoma(190;638 2083 3390 11909 52360)	ENST00000289269.5																			0				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45						c.(1876-1878)caG>caT									67	65	66					5																	140348229		2203	4300	6503	SO:0001583	missense	0				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	g.chr5:140348229G>T	AF152474	CCDS4242.1	5q31	2010-11-26			ENSG00000243232	ENSG00000243232		"Cadherins / Protocadherins : Clustered"	8677	other	complex locus constituent		606321				10380929	Standard	NM_031883		Approved	PCDH-ALPHA-C2		Q9Y5I4	OTTHUMG00000129607	ENST00000289269.5:c.1878G>T	5.37:g.140348229G>T	ENSP00000289269:p.Gln626His					PCDHA7_ENST00000525929.1_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHAC1_ENST00000253807.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA8_ENST00000531613.1_Intron	p.Q626H	NM_018899.5|NM_031883.2	NP_061722.1|NP_114089.1	Q9Y5I4	PCDC2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2410	+			626			Cadherin 6.		Q2M3V1|Q9Y5F4	Missense_Mutation	SNP	ENST00000289269.5	37	c.1878G>T	CCDS4242.1	.	.	.	.	.	.	.	.	.	.	G	5.901	0.350262	0.11182	.	.	ENSG00000243232	ENST00000289269	T	0.59364	0.27	6.02	3.9	0.45041	Cadherin (4);Cadherin-like (1);	0.188277	0.26109	N	0.026297	T	0.42854	0.1221	L	0.39085	1.19	0.31139	N	0.706859	B;B	0.09022	0.002;0.0	B;B	0.15052	0.012;0.003	T	0.42949	-0.9421	10	0.49607	T	0.09	.	4.7529	0.13070	0.3652:0.1478:0.487:0.0	.	626;626	Q9Y5I4-2;Q9Y5I4	.;PCDC2_HUMAN	H	626	ENSP00000289269:Q626H	ENSP00000289269:Q626H	Q	+	3	2	PCDHAC2	140328413	0.000000	0.05858	0.997000	0.53966	0.995000	0.86356	0.230000	0.17852	0.638000	0.30545	-0.126000	0.14955	CAG		0.507	PCDHAC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251802.2	NM_018899		15	18	1	0	6.72482e-11	1	7.20828e-11	15	18					T	140348229	G	T	140348229	3	4	435	1	0	0	0	0	1	0	0	0	11533	933	33	5	1880	5	PCDHAC2	5	140348229	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	652	140348229	40567031	2850	23775											
PCDHAC2	56134	broad.mit.edu	37	chr5	140348837	140348837	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccaagcagcagtgactgacaGcaggaatctcacaggccaaa	15	4	10	12	0	1	2	1	2	1	0	2	3	1	3	2	2	3	3	2	2	3	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:140348837G>T	ENST00000289269.5	+	1	3018	c.2486G>T	c.(2485-2487)aGc>aTc	p.S829I	PCDHA5_ENST00000529859.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHAC1_ENST00000253807.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron	NM_018899.5|NM_031883.2	NP_061722.1|NP_114089.1	Q9Y5I4	PCDC2_HUMAN	protocadherin alpha subfamily C, 2	829					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTGACTGACAGCAGGAATCTC	0.517																																					Melanoma(190;638 2083 3390 11909 52360)	ENST00000289269.5																			0				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45						c.(2485-2487)aGc>aTc									66	69	68					5																	140348837		2203	4300	6503	SO:0001583	missense	0				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	g.chr5:140348837G>T	AF152474	CCDS4242.1	5q31	2010-11-26			ENSG00000243232	ENSG00000243232		"Cadherins / Protocadherins : Clustered"	8677	other	complex locus constituent		606321				10380929	Standard	NM_031883		Approved	PCDH-ALPHA-C2		Q9Y5I4	OTTHUMG00000129607	ENST00000289269.5:c.2486G>T	5.37:g.140348837G>T	ENSP00000289269:p.Ser829Ile					PCDHA7_ENST00000525929.1_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHAC1_ENST00000253807.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA8_ENST00000531613.1_Intron	p.S829I	NM_018899.5|NM_031883.2	NP_061722.1|NP_114089.1	Q9Y5I4	PCDC2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	3018	+			829					Q2M3V1|Q9Y5F4	Missense_Mutation	SNP	ENST00000289269.5	37	c.2486G>T	CCDS4242.1	.	.	.	.	.	.	.	.	.	.	G	6.103	0.387261	0.11581	.	.	ENSG00000243232	ENST00000289269	T	0.48836	0.8	5.19	2.41	0.29592	.	0.269820	0.26609	N	0.023424	T	0.32793	0.0841	L	0.32530	0.975	0.29630	N	0.845537	B;B	0.21147	0.011;0.052	B;B	0.19148	0.012;0.024	T	0.21143	-1.0254	10	0.51188	T	0.08	.	6.8478	0.23998	0.2947:0.0:0.7053:0.0	.	829;829	Q9Y5I4-2;Q9Y5I4	.;PCDC2_HUMAN	I	829	ENSP00000289269:S829I	ENSP00000289269:S829I	S	+	2	0	PCDHAC2	140329021	.	.	1.000000	0.80357	0.988000	0.76386	.	.	0.203000	0.20529	0.462000	0.41574	AGC		0.517	PCDHAC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251802.2	NM_018899		8	14	1	0	0.000157383	1	0.000161063	8	14					T	140348837	G	T	140348837	3	4	435	1	0	0	0	0	1	0	0	0	11533	971	34	5	2488	5	PCDHAC2	5	140348837	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	608	140348837	40566423	2851	23776											
PCDHB2	56133	broad.mit.edu	37	chr5	140475094	140475094	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gttgtggacatcaatgacaaCgtcccagagtttgcaaagct	12	10	10	9	1	1	2	1	1	0	1	2	3	2	3	1	1	3	4	1	1	3	2	rs112071111		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:140475094C>T	ENST00000194155.4	+	1	868	c.720C>T	c.(718-720)aaC>aaT	p.N240N		NM_018936.2	NP_061759.1	Q9Y5E7	PCDB2_HUMAN	protocadherin beta 2	240	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TCAATGACAACGTCCCAGAGT	0.567																																						ENST00000194155.4																			0				NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	71						c.(718-720)aaC>aaT									55	57	56					5																	140475094		2203	4300	6503	SO:0001819	synonymous_variant	0				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	g.chr5:140475094C>T	AF152495	CCDS4244.1	5q31	2010-01-26			ENSG00000112852	ENSG00000112852		"Cadherins / Protocadherins : Clustered"	8687	other	protocadherin		606328				10380929	Standard	NM_018936		Approved	PCDH-BETA2	uc003lil.3	Q9Y5E7	OTTHUMG00000129606	ENST00000194155.4:c.720C>T	5.37:g.140475094C>T							p.N240N	NM_018936.2	NP_061759.1	Q9Y5E7	PCDB2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	868	+			240			Cadherin 2.		Q4KMU1	Silent	SNP	ENST00000194155.4	37	c.720C>T	CCDS4244.1																																																																																				0.567	PCDHB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251801.2	NM_018936		14	27	0	0	0	1	0	14	27					T	140475094	C	T	140475094	2	4	435	1	0	0	0	0	0	0	0	1	11542	535	19	1		1	PCDHB2	5	140475094	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	126257	140475094	40440166	2852	23777											
PCDHB2	56133	broad.mit.edu	37	chr5	140475758	140475758	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaacctcctacaccctgttcGtccgcgagaacaacagcccc	11	6	6	18	3	0	1	0	0	0	1	3	2	2	1	6	0	5	1	6	0	4	2	rs368304890		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:140475758G>A	ENST00000194155.4	+	1	1532	c.1384G>A	c.(1384-1386)Gtc>Atc	p.V462I		NM_018936.2	NP_061759.1	Q9Y5E7	PCDB2_HUMAN	protocadherin beta 2	462	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CACCCTGTTCGTCCGCGAGAA	0.637																																						ENST00000194155.4																			0				NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	71						c.(1384-1386)Gtc>Atc									85	85	85					5																	140475758		2203	4296	6499	SO:0001583	missense	0				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	g.chr5:140475758G>A	AF152495	CCDS4244.1	5q31	2010-01-26			ENSG00000112852	ENSG00000112852		"Cadherins / Protocadherins : Clustered"	8687	other	protocadherin		606328				10380929	Standard	NM_018936		Approved	PCDH-BETA2	uc003lil.3	Q9Y5E7	OTTHUMG00000129606	ENST00000194155.4:c.1384G>A	5.37:g.140475758G>A	ENSP00000194155:p.Val462Ile						p.V462I	NM_018936.2	NP_061759.1	Q9Y5E7	PCDB2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1532	+			462			Cadherin 5.		Q4KMU1	Missense_Mutation	SNP	ENST00000194155.4	37	c.1384G>A	CCDS4244.1	.	.	.	.	.	.	.	.	.	.	G	6.470	0.454811	0.12283	.	.	ENSG00000112852	ENST00000194155	T	0.53857	0.6	5.11	1.79	0.24919	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.27798	0.0684	N	0.20445	0.575	0.09310	N	1	P	0.49090	0.919	B	0.37480	0.251	T	0.08027	-1.0742	9	0.25106	T	0.35	.	3.0966	0.06312	0.1593:0.2428:0.4739:0.124	.	462	Q9Y5E7	PCDB2_HUMAN	I	462	ENSP00000194155:V462I	ENSP00000194155:V462I	V	+	1	0	PCDHB2	140455942	0.015000	0.18098	0.334000	0.25495	0.286000	0.27126	0.141000	0.16076	0.519000	0.28406	0.650000	0.86243	GTC		0.637	PCDHB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251801.2	NM_018936		13	118	0	0	0	1	0	13	118					A	140475758	G	A	140475758	3	1	435	1	0	0	0	0	1	0	0	0	11542	1145	40	1	1386	1	PCDHB2	5	140475758	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	664	140475758	40439502	2853	23778											
PCDHB4	56131	broad.mit.edu	37	chr5	140503186	140503186	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcgtgggcgcctcagaccgcGgttctccggctttgagcagc	4	8	15	14	5	2	2	1	1	1	1	3	2	2	2	3	3	2	3	3	3	0	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:140503186G>A	ENST00000194152.1	+	1	1606	c.1606G>A	c.(1606-1608)Ggt>Agt	p.G536S	AC005754.8_ENST00000606030.1_lincRNA	NM_018938.2	NP_061761.1	Q9Y5E5	PCDB4_HUMAN	protocadherin beta 4	536	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	67			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CTCAGACCGCGGTTCTCCGGC	0.662																																						ENST00000194152.1																			0				autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	67						c.(1606-1608)Ggt>Agt									51	58	56					5																	140503186		2203	4297	6500	SO:0001583	missense	0				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton	calcium ion binding	g.chr5:140503186G>A	AF152497	CCDS4246.1	5q31	2010-01-26			ENSG00000081818	ENSG00000081818		"Cadherins / Protocadherins : Clustered"	8689	other	protocadherin		606330				10380929	Standard	NM_018938		Approved	PCDH-BETA4	uc003lip.1	Q9Y5E5	OTTHUMG00000129617	ENST00000194152.1:c.1606G>A	5.37:g.140503186G>A	ENSP00000194152:p.Gly536Ser						p.G536S	NM_018938.2	NP_061761.1	Q9Y5E5	PCDB4_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1606	+			536			Cadherin 5.		Q4V761	Missense_Mutation	SNP	ENST00000194152.1	37	c.1606G>A	CCDS4246.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.372354	0.82573	.	.	ENSG00000081818	ENST00000194152	T	0.01647	4.71	3.88	3.88	0.44766	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.16727	0.0402	H	0.95816	3.725	0.58432	D	0.999991	D	0.89917	1.0	D	0.87578	0.998	T	0.19516	-1.0303	9	0.87932	D	0	.	16.0646	0.80863	0.0:0.0:1.0:0.0	.	536	Q9Y5E5	PCDB4_HUMAN	S	536	ENSP00000194152:G536S	ENSP00000194152:G536S	G	+	1	0	PCDHB4	140483370	1.000000	0.71417	0.171000	0.22900	0.664000	0.39144	9.415000	0.97375	2.189000	0.69895	0.485000	0.47835	GGT		0.662	PCDHB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251812.2	NM_018938		31	32	0	0	0	1	0	31	32					A	140503186	G	A	140503186	3	1	435	1	0	0	0	0	1	0	0	0	11544	1116	39	2	1608	2	PCDHB4	5	140503186	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	27428	140503186	40412074	2854	23779											
PCDHB5	26167	broad.mit.edu	37	chr5	140516633	140516633	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acagaccgcggctccccggcGctgagcagcgaggcgctggt	6	4	16	15	6	0	2	0	1	0	1	1	3	1	2	3	4	2	4	3	4	0	0	rs61745767	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:140516633G>A	ENST00000231134.5	+	1	1834	c.1617G>A	c.(1615-1617)gcG>gcA	p.A539A		NM_015669.2	NP_056484.1	Q9Y5E4	PCDB5_HUMAN	protocadherin beta 5	539	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	81			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCTCCCCGGCGCTGAGCAGCG	0.692																																						ENST00000231134.5																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	81						c.(1615-1617)gcG>gcA									38	43	42					5																	140516633		2201	4299	6500	SO:0001819	synonymous_variant	0				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding|protein binding	g.chr5:140516633G>A	AF152498	CCDS4247.1	5q31	2010-01-26			ENSG00000113209	ENSG00000113209		"Cadherins / Protocadherins : Clustered"	8690	other	protocadherin		606331				10380929	Standard	NM_015669		Approved	DKFZp586B0217, PCDH-BETA5	uc003liq.3	Q9Y5E4	OTTHUMG00000129616	ENST00000231134.5:c.1617G>A	5.37:g.140516633G>A							p.A539A	NM_015669.2	NP_056484.1	Q9Y5E4	PCDB5_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1834	+			539			Cadherin 5.		Q549F4|Q9UFU9	Silent	SNP	ENST00000231134.5	37	c.1617G>A	CCDS4247.1																																																																																				0.692	PCDHB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251811.1	NM_015669		21	32	0	0	0	1	0	21	32					A	140516633	G	A	140516633	2	1	435	1	0	0	0	0	0	0	0	1	11545	1074	38	1		1	PCDHB5	5	140516633	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	13447	140516633	40398627	2855	23780											
PCDHB7	56129	broad.mit.edu	37	chr5	140552434	140552434	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaatggaggccagagtggaGcgtgctgtgcagaaaaggca	13	5	17	6	1	0	3	0	0	0	3	0	5	0	5	1	4	3	3	1	4	3	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:140552434G>A	ENST00000231137.3	+	1	192	c.18G>A	c.(16-18)gaG>gaA	p.E6E		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN	protocadherin beta 7	6					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCAGAGTGGAGCGTGCTGTGC	0.498																																						ENST00000231137.3																			0				NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						c.(16-18)gaG>gaA									170	143	152					5																	140552434		2203	4300	6503	SO:0001819	synonymous_variant	0				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140552434G>A	AF152500	CCDS4249.1	5q31	2010-01-26			ENSG00000113212	ENSG00000113212		"Cadherins / Protocadherins : Clustered"	8692	other	protocadherin		606333				10380929	Standard	NM_018940		Approved	PCDH-BETA7	uc003lit.3	Q9Y5E2	OTTHUMG00000129608	ENST00000231137.3:c.18G>A	5.37:g.140552434G>A							p.E6E	NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	192	+			6					A1L3Y8	Silent	SNP	ENST00000231137.3	37	c.18G>A	CCDS4249.1																																																																																				0.498	PCDHB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251803.2	NM_018940		8	42	0	0	0	1	0	8	42					A	140552434	G	A	140552434	2	1	435	1	0	0	0	0	0	0	0	1	11547	962	34	3		3	PCDHB7	5	140552434	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	35801	140552434	40362826	2856	23781											
PCDHB7	56129	broad.mit.edu	37	chr5	140554290	140554290	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggcgcacaatggcgaggtgcGtaccgccaggctgctgagcg	7	5	17	12	5	0	1	0	1	0	0	0	2	0	1	2	4	4	4	2	4	2	1	rs544763939		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:140554290G>A	ENST00000231137.3	+	1	2048	c.1874G>A	c.(1873-1875)cGt>cAt	p.R625H		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN	protocadherin beta 7	625	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGCGAGGTGCGTACCGCCAGG	0.697													G|||	1	0.000199681	0	0.0014	5008	,	,		20098	0		0	False		,,,				2504	0					ENST00000231137.3																			0				NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						c.(1873-1875)cGt>cAt									41	64	56					5																	140554290		2192	4286	6478	SO:0001583	missense	0				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140554290G>A	AF152500	CCDS4249.1	5q31	2010-01-26			ENSG00000113212	ENSG00000113212		"Cadherins / Protocadherins : Clustered"	8692	other	protocadherin		606333				10380929	Standard	NM_018940		Approved	PCDH-BETA7	uc003lit.3	Q9Y5E2	OTTHUMG00000129608	ENST00000231137.3:c.1874G>A	5.37:g.140554290G>A	ENSP00000231137:p.Arg625His						p.R625H	NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	2048	+			625			Cadherin 6.		A1L3Y8	Missense_Mutation	SNP	ENST00000231137.3	37	c.1874G>A	CCDS4249.1	.	.	.	.	.	.	.	.	.	.	G	17.08	3.297906	0.60086	.	.	ENSG00000113212	ENST00000231137	T	0.52754	0.65	3.98	3.08	0.35506	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.71264	0.3319	M	0.90759	3.145	0.31134	N	0.707366	D	0.89917	1.0	D	0.91635	0.999	T	0.72472	-0.4283	9	0.66056	D	0.02	.	10.1242	0.42639	0.1713:0.0:0.8287:0.0	.	625	Q9Y5E2	PCDB7_HUMAN	H	625	ENSP00000231137:R625H	ENSP00000231137:R625H	R	+	2	0	PCDHB7	140534474	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	3.031000	0.49728	1.922000	0.55676	0.449000	0.29647	CGT		0.697	PCDHB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251803.2	NM_018940		25	23	0	0	0	1	0	25	23					A	140554290	G	A	140554290	3	1	435	1	0	0	0	0	1	0	0	0	11547	1145	40	1	1876	1	PCDHB7	5	140554290	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	1856	140554290	40360970	2857	23782											
PCDHB10	56126	broad.mit.edu	37	chr5	140573503	140573503	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaacctcctacaccctgttcGtccgcgagaacaacagcccc	11	6	6	18	3	0	1	0	0	0	1	3	2	2	1	6	0	5	1	6	0	4	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:140573503G>A	ENST00000239446.4	+	1	1562	c.1378G>A	c.(1378-1380)Gtc>Atc	p.V460I		NM_018930.3	NP_061753.1	Q9UN67	PCDBA_HUMAN	protocadherin beta 10	460	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.V460F(1)		breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(30)|ovary(4)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	76			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CACCCTGTTCGTCCGCGAGAA	0.637																																						ENST00000239446.4																			1	Substitution - Missense(1)	p.V460F(1)	kidney(1)	breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(30)|ovary(4)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	76						c.(1378-1380)Gtc>Atc									44	50	48					5																	140573503		2203	4290	6493	SO:0001583	missense	0				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140573503G>A	AF152489	CCDS4252.1	5q31.3	2010-06-15			ENSG00000120324	ENSG00000120324		"Cadherins / Protocadherins : Clustered"	8681	other	protocadherin		606336				10380929	Standard	NM_018930		Approved		uc003lix.3	Q9UN67	OTTHUMG00000129626	ENST00000239446.4:c.1378G>A	5.37:g.140573503G>A	ENSP00000239446:p.Val460Ile						p.V460I	NM_018930.3	NP_061753.1	Q9UN67	PCDBA_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1562	+			460			Cadherin 5.		Q96T99	Missense_Mutation	SNP	ENST00000239446.4	37	c.1378G>A	CCDS4252.1	.	.	.	.	.	.	.	.	.	.	g	5.931	0.355823	0.11239	.	.	ENSG00000120324	ENST00000239446	T	0.53857	0.6	3.22	-1.36	0.09085	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.30572	0.0769	N	0.17631	0.505	0.09310	N	1	B	0.30973	0.302	B	0.34418	0.182	T	0.23332	-1.0191	9	0.22706	T	0.39	.	2.7858	0.05373	0.1771:0.3797:0.3148:0.1284	.	460	Q9UN67	PCDBA_HUMAN	I	460	ENSP00000239446:V460I	ENSP00000239446:V460I	V	+	1	0	PCDHB10	140553687	0.000000	0.05858	0.006000	0.13384	0.270000	0.26580	-0.534000	0.06150	-0.080000	0.12685	-1.205000	0.01647	GTC		0.637	PCDHB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251821.1	NM_018930		18	47	0	0	0	1	0	18	47					A	140573503	G	A	140573503	3	1	435	1	0	0	0	0	1	0	0	0	11535	1145	40	1	1380	1	PCDHB10	5	140573503	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	19213	140573503	40341757	2858	23783											
PCDHB13	56123	broad.mit.edu	37	chr5	140594169	140594169	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acgtttcctctgaagaatgcCgaagacttagatgtaggcca	12	10	10	9	2	1	4	0	1	1	3	2	5	2	4	3	1	1	2	3	1	5	3	rs2860691		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:140594169C>T	ENST00000341948.4	+	1	661	c.474C>T	c.(472-474)gcC>gcT	p.A158A		NM_018933.2	NP_061756.1	Q9Y5F0	PCDBD_HUMAN	protocadherin beta 13	158	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(4)|lung(24)|ovary(5)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	66			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGAAGAATGCCGAAGACTTAG	0.443																																						ENST00000341948.4																			0				NS(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(4)|lung(24)|ovary(5)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	66						c.(472-474)gcC>gcT									77	79	78					5																	140594169		2203	4300	6503	SO:0001819	synonymous_variant	0				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140594169C>T	AF152492	CCDS4255.1	5q31	2010-01-26			ENSG00000187372	ENSG00000187372		"Cadherins / Protocadherins : Clustered"	8684	other	protocadherin		606339				10380929	Standard	NM_018933		Approved	PCDH-BETA13	uc003lja.1	Q9Y5F0	OTTHUMG00000129615	ENST00000341948.4:c.474C>T	5.37:g.140594169C>T							p.A158A	NM_018933.2	NP_061756.1	Q9Y5F0	PCDBD_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	661	+			158			Cadherin 2.		A8K9V6	Silent	SNP	ENST00000341948.4	37	c.474C>T	CCDS4255.1																																																																																				0.443	PCDHB13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251810.1	NM_018933		28	66	0	0	0	1	0	28	66					T	140594169	C	T	140594169	2	4	435	1	0	0	0	0	0	0	0	1	11538	639	23	2		2	PCDHB13	5	140594169	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	20666	140594169	40321091	2859	23784											
PCDHB14	56122	broad.mit.edu	37	chr5	140604449	140604449	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcacccaaacctcctacaccCtgttcgtccgcgagaacaac	11	7	5	18	3	1	1	1	0	0	1	4	2	3	1	5	0	4	1	5	0	4	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:140604449C>A	ENST00000239449.4	+	1	1372	c.1372C>A	c.(1372-1374)Ctg>Atg	p.L458M	PCDHB14_ENST00000515856.2_Missense_Mutation_p.L305M	NM_018934.2	NP_061757.1	Q9Y5E9	PCDBE_HUMAN	protocadherin beta 14	458	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(21)|ovary(2)|prostate(3)|skin(6)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CTCCTACACCCTGTTCGTCCG	0.592																																					Ovarian(141;50 1831 27899 33809 37648)	ENST00000239449.4																			0				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(21)|ovary(2)|prostate(3)|skin(6)|urinary_tract(1)	49						c.(1372-1374)Ctg>Atg									123	125	124					5																	140604449		2203	4297	6500	SO:0001583	missense	0				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140604449C>A	AF152493	CCDS4256.1	5q31	2010-01-26			ENSG00000120327	ENSG00000120327		"Cadherins / Protocadherins : Clustered"	8685	other	protocadherin		606340				10380929	Standard	NM_018934		Approved	PCDH-BETA14	uc003ljb.3	Q9Y5E9	OTTHUMG00000129619	ENST00000239449.4:c.1372C>A	5.37:g.140604449C>A	ENSP00000239449:p.Leu458Met					PCDHB14_ENST00000515856.2_Missense_Mutation_p.L305M	p.L458M	NM_018934.2	NP_061757.1	Q9Y5E9	PCDBE_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1372	+			458			Cadherin 5.		B4DPE2|Q4FZA4|Q4KN11	Missense_Mutation	SNP	ENST00000239449.4	37	c.1372C>A	CCDS4256.1	.	.	.	.	.	.	.	.	.	.	-	6.458	0.452649	0.12283	.	.	ENSG00000120327	ENST00000515856;ENST00000239449	T;T	0.01787	4.64;4.64	4.5	2.58	0.30949	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.01320	0.0043	N	0.16037	0.36	0.09310	N	1	P	0.46457	0.878	B	0.43274	0.414	T	0.50303	-0.8844	9	0.30078	T	0.28	.	3.0249	0.06087	0.2713:0.4077:0.2324:0.0887	.	458	Q9Y5E9	PCDBE_HUMAN	M	305;458	ENSP00000444518:L305M;ENSP00000239449:L458M	ENSP00000239449:L458M	L	+	1	2	PCDHB14	140584633	0.000000	0.05858	0.859000	0.33776	0.456000	0.32438	-0.037000	0.12164	0.967000	0.38186	0.556000	0.70494	CTG		0.592	PCDHB14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251814.2	NM_018934		18	87	1	0	8.10497e-08	1	8.52441e-08	18	87					A	140604449	C	A	140604449	3	1	435	1	0	0	0	0	1	0	0	0	11539	680	24	5	1374	5	PCDHB14	5	140604449	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	10280	140604449	40310811	2860	23785											
PCDHB15	56121	broad.mit.edu	37	chr5	140626753	140626753	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgcgtgggcgccacagaccGcggcttcccggcgctgagca	5	4	15	17	7	0	2	0	1	0	1	1	2	1	2	4	3	1	3	4	3	0	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:140626753G>A	ENST00000231173.3	+	1	1607	c.1607G>A	c.(1606-1608)cGc>cAc	p.R536H		NM_018935.2	NP_061758.1	Q9Y5E8	PCDBF_HUMAN	protocadherin beta 15	536	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|endometrium(8)|kidney(3)|large_intestine(14)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	61			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCCACAGACCGCGGCTTCCCG	0.662																																						ENST00000231173.3																			0				NS(1)|breast(3)|endometrium(8)|kidney(3)|large_intestine(14)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	61						c.(1606-1608)cGc>cAc									49	59	56					5																	140626753		2203	4300	6503	SO:0001583	missense	0				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	g.chr5:140626753G>A	AF152494	CCDS4257.1	5q31	2011-06-07			ENSG00000113248	ENSG00000113248		"Cadherins / Protocadherins : Clustered"	8686	other	protocadherin		606341				10380929	Standard	NM_018935		Approved	PCDH-BETA15	uc003lje.3	Q9Y5E8	OTTHUMG00000129609	ENST00000231173.3:c.1607G>A	5.37:g.140626753G>A	ENSP00000231173:p.Arg536His						p.R536H	NM_018935.2	NP_061758.1	Q9Y5E8	PCDBF_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1607	+			536			Cadherin 5.		Q8IUX5	Missense_Mutation	SNP	ENST00000231173.3	37	c.1607G>A	CCDS4257.1	.	.	.	.	.	.	.	.	.	.	G	5.864	0.343601	0.11126	.	.	ENSG00000113248	ENST00000231173	T	0.01745	4.66	4.37	1.4	0.22301	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.01353	0.0044	N	0.11756	0.17	0.09310	N	1	B	0.24920	0.114	B	0.27608	0.081	T	0.49322	-0.8952	9	0.42905	T	0.14	.	6.5389	0.22369	0.2517:0.2459:0.5023:0.0	.	536	Q9Y5E8	PCDBF_HUMAN	H	536	ENSP00000231173:R536H	ENSP00000231173:R536H	R	+	2	0	PCDHB15	140606937	0.000000	0.05858	0.072000	0.20136	0.420000	0.31355	-0.601000	0.05687	0.085000	0.17107	0.485000	0.47835	CGC		0.662	PCDHB15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251804.2	NM_018935		19	28	0	0	0	1	0	19	28					A	140626753	G	A	140626753	3	1	435	1	0	0	0	0	1	0	0	0	11540	1087	38	1	1609	1	PCDHB15	5	140626753	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	22304	140626753	40288507	2861	23786											
PCDHB15	56121	broad.mit.edu	37	chr5	140627138	140627138	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcaagtgctcctggtggaCggcttctctcagccctacct	5	11	10	15	1	2	0	1	0	1	0	4	1	3	1	3	3	4	3	3	3	2	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:140627138C>T	ENST00000231173.3	+	1	1992	c.1992C>T	c.(1990-1992)gaC>gaT	p.D664D		NM_018935.2	NP_061758.1	Q9Y5E8	PCDBF_HUMAN	protocadherin beta 15	664	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|endometrium(8)|kidney(3)|large_intestine(14)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	61			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TCCTGGTGGACGGCTTCTCTC	0.687																																						ENST00000231173.3																			0				NS(1)|breast(3)|endometrium(8)|kidney(3)|large_intestine(14)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	61						c.(1990-1992)gaC>gaT									45	48	47					5																	140627138		2192	4285	6477	SO:0001819	synonymous_variant	0				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	g.chr5:140627138C>T	AF152494	CCDS4257.1	5q31	2011-06-07			ENSG00000113248	ENSG00000113248		"Cadherins / Protocadherins : Clustered"	8686	other	protocadherin		606341				10380929	Standard	NM_018935		Approved	PCDH-BETA15	uc003lje.3	Q9Y5E8	OTTHUMG00000129609	ENST00000231173.3:c.1992C>T	5.37:g.140627138C>T							p.D664D	NM_018935.2	NP_061758.1	Q9Y5E8	PCDBF_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1992	+			664			Cadherin 6.		Q8IUX5	Silent	SNP	ENST00000231173.3	37	c.1992C>T	CCDS4257.1																																																																																				0.687	PCDHB15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251804.2	NM_018935		22	36	0	0	0	1	0	22	36					T	140627138	C	T	140627138	2	4	435	1	0	0	0	0	0	0	0	1	11540	535	19	1		1	PCDHB15	5	140627138	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	385	140627138	40288122	2862	23787											
PCDHB15	56121	broad.mit.edu	37	chr5	140627234	140627234	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctggtggtggcattggcctcGgtgtcttcgctcttcctctt	1	16	12	12	2	3	0	0	0	3	0	6	0	4	0	2	5	0	2	2	5	0	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:140627234G>A	ENST00000231173.3	+	1	2088	c.2088G>A	c.(2086-2088)tcG>tcA	p.S696S		NM_018935.2	NP_061758.1	Q9Y5E8	PCDBF_HUMAN	protocadherin beta 15	696					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|endometrium(8)|kidney(3)|large_intestine(14)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	61			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CATTGGCCTCGGTGTCTTCGC	0.677																																						ENST00000231173.3																			0				NS(1)|breast(3)|endometrium(8)|kidney(3)|large_intestine(14)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	61						c.(2086-2088)tcG>tcA									99	102	101					5																	140627234		2202	4298	6500	SO:0001819	synonymous_variant	0				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	g.chr5:140627234G>A	AF152494	CCDS4257.1	5q31	2011-06-07			ENSG00000113248	ENSG00000113248		"Cadherins / Protocadherins : Clustered"	8686	other	protocadherin		606341				10380929	Standard	NM_018935		Approved	PCDH-BETA15	uc003lje.3	Q9Y5E8	OTTHUMG00000129609	ENST00000231173.3:c.2088G>A	5.37:g.140627234G>A							p.S696S	NM_018935.2	NP_061758.1	Q9Y5E8	PCDBF_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	2088	+			696					Q8IUX5	Silent	SNP	ENST00000231173.3	37	c.2088G>A	CCDS4257.1																																																																																				0.677	PCDHB15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251804.2	NM_018935		49	59	0	0	0	1	0	49	59					A	140627234	G	A	140627234	2	1	435	1	0	0	0	0	0	0	0	1	11540	1103	39	2		2	PCDHB15	5	140627234	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	96	140627234	40288026	2863	23788											
SLC25A2	83884	broad.mit.edu	37	chr5	140683225	140683225	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ggcgacgtaggccataagtgCcgggccggtgcccttgtaga	7	7	16	11	4	0	1	0	0	0	1	0	2	0	1	4	4	2	2	4	4	3	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:140683225C>T	ENST00000239451.4	-	1	387	c.208G>A	c.(208-210)Gca>Aca	p.A70T		NM_031947.2	NP_114153.1	Q9BXI2	ORNT2_HUMAN	solute carrier family 25 (mitochondrial carrier; ornithine transporter) member 2	70					cellular nitrogen compound metabolic process (GO:0034641)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)|urea cycle (GO:0000050)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)				breast(3)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	19		all_lung(500;0.000249)|Lung NSC(810;0.0011)|Ovarian(839;0.00556)|Breast(839;0.0173)|all_hematologic(541;0.152)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;0.00204)	L-Ornithine(DB00129)	GCCATAAGTGCCGGGCCGGTG	0.577																																						ENST00000239451.4																			0				breast(3)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	19						c.(208-210)Gca>Aca		solute carrier family 25 (mitochondrial carrier; ornithine transporter) member 2	L-Ornithine(DB00129)						78	77	78					5																	140683225		2203	4300	6503	SO:0001583	missense	83884				mitochondrial ornithine transport|urea cycle	integral to membrane|mitochondrial inner membrane	L-ornithine transmembrane transporter activity	g.chr5:140683225C>T	AF332005	CCDS4258.1	5q31.3	2013-05-22			ENSG00000120329	ENSG00000120329		"Solute carriers"	22921	protein-coding gene	gene with protein product		608157				11004451	Standard	NM_031947		Approved	ORNT2	uc003ljf.3	Q9BXI2	OTTHUMG00000129604	ENST00000239451.4:c.208G>A	5.37:g.140683225C>T	ENSP00000239451:p.Ala70Thr						p.A70T	NM_031947.2	NP_114153.1	Q9BXI2	ORNT2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;0.00204)	1	387	-		all_lung(500;0.000249)|Lung NSC(810;0.0011)|Ovarian(839;0.00556)|Breast(839;0.0173)|all_hematologic(541;0.152)	70					Q496C1|Q6XUI0|Q8NFZ2	Missense_Mutation	SNP	ENST00000239451.4	37	c.208G>A	CCDS4258.1	.	.	.	.	.	.	.	.	.	.	C	15.93	2.978541	0.53720	.	.	ENSG00000120329	ENST00000239451	T	0.78003	-1.14	3.72	2.85	0.33270	Mitochondrial carrier domain (2);	0.000000	0.85682	U	0.000000	T	0.81059	0.4744	L	0.43554	1.36	0.80722	D	1	D	0.71674	0.998	D	0.70935	0.971	T	0.81317	-0.0987	10	0.87932	D	0	-1.2168	9.483	0.38913	0.0:0.8923:0.0:0.1077	.	70	Q9BXI2	ORNT2_HUMAN	T	70	ENSP00000239451:A70T	ENSP00000239451:A70T	A	-	1	0	SLC25A2	140663409	1.000000	0.71417	0.023000	0.16930	0.018000	0.09664	6.932000	0.75869	1.172000	0.42781	0.585000	0.79938	GCA		0.577	SLC25A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251799.2	NM_031947		38	32	0	0	0	1	0	38	32					T	140683225	C	T	140683225	3	4	435	1	0	0	0	0	1	0	0	0	14482	739	26	3	701	3	SLC25A2	5	140683225	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	55991	140683225	40232035	2864	23789											
PCDHGA1	56114	broad.mit.edu	37	chr5	140710637	140710637	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aataattgatattaatgacaAcactccccaattccagttag	16	12	4	9	0	0	2	0	2	0	0	2	2	2	2	3	0	1	1	3	0	7	6			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:140710637A>G	ENST00000517417.1	+	1	386	c.386A>G	c.(385-387)aAc>aGc	p.N129S	PCDHGA1_ENST00000378105.3_Missense_Mutation_p.N129S|AC005618.6_ENST00000606901.1_lincRNA	NM_018912.2	NP_061735.1	Q9Y5H4	PCDG1_HUMAN	protocadherin gamma subfamily A, 1	129	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|lung(32)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATTAATGACAACACTCCCCAA	0.398																																						ENST00000517417.1																			0				breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|lung(32)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	78						c.(385-387)aAc>aGc									93	106	102					5																	140710637		2203	4300	6503	SO:0001583	missense	0							g.chr5:140710637A>G	AF152318	CCDS54922.1	5q31	2010-01-26				ENSG00000204956		"Cadherins / Protocadherins : Clustered"	8696	other	protocadherin		606288				10380929	Standard	NM_018912		Approved	PCDH-GAMMA-A1		Q9Y5H4		ENST00000517417.1:c.386A>G	5.37:g.140710637A>G	ENSP00000431083:p.Asn129Ser					PCDHGA1_ENST00000378105.3_Missense_Mutation_p.N129S	p.N129S	NM_018912.2	NP_061735.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	386	+								Q2M273|Q9Y5D6	Missense_Mutation	SNP	ENST00000517417.1	37	c.386A>G	CCDS54922.1	.	.	.	.	.	.	.	.	.	.	A	15.36	2.810151	0.50421	.	.	ENSG00000204956	ENST00000517417;ENST00000378105	T;T	0.30714	1.52;1.52	4.2	4.2	0.49525	Cadherin (3);Cadherin conserved site (1);Cadherin-like (1);	0.116299	0.37623	N	0.002004	T	0.67924	0.2945	H	0.99682	4.7	0.28441	N	0.916789	D;D	0.56968	0.978;0.963	P;P	0.55391	0.775;0.45	T	0.75451	-0.3313	10	0.59425	D	0.04	.	13.4192	0.60987	1.0:0.0:0.0:0.0	.	129;129	Q9Y5H4-2;Q9Y5H4	.;PCDG1_HUMAN	S	129	ENSP00000431083:N129S;ENSP00000367345:N129S	ENSP00000367345:N129S	N	+	2	0	PCDHGA1	140690821	0.973000	0.33851	1.000000	0.80357	0.999000	0.98932	7.270000	0.78493	1.905000	0.55150	0.533000	0.62120	AAC		0.398	PCDHGA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000374737.1	NM_018912		43	93	0	0	0	1	0	43	93					G	140710637	A	G	140710637	3	3	435	1	0	0	0	0	1	0	0	0	11550	43	2	4	388	4	PCDHGA1	5	140710637	Missense_Mutation	SNP	A	TCGA-XK-AAIW-01A-11D-A41K-08	27412	140710637	40204623	2865	23790											
PCDHGA1	56114	broad.mit.edu	37	chr5	140711852	140711852	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catgcaactgaaagtgatggCgcgggacagtggggatccgc	10	6	16	9	3	0	2	0	2	0	0	1	4	1	4	1	4	2	1	1	4	2	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:140711852C>T	ENST00000517417.1	+	1	1601	c.1601C>T	c.(1600-1602)gCg>gTg	p.A534V	PCDHGA1_ENST00000378105.3_Missense_Mutation_p.A534V|AC005618.6_ENST00000606901.1_lincRNA	NM_018912.2	NP_061735.1	Q9Y5H4	PCDG1_HUMAN	protocadherin gamma subfamily A, 1	534	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|lung(32)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AAAGTGATGGCGCGGGACAGT	0.597																																						ENST00000517417.1																			0				breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|lung(32)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	78						c.(1600-1602)gCg>gTg									186	198	194					5																	140711852		2203	4300	6503	SO:0001583	missense	0							g.chr5:140711852C>T	AF152318	CCDS54922.1	5q31	2010-01-26				ENSG00000204956		"Cadherins / Protocadherins : Clustered"	8696	other	protocadherin		606288				10380929	Standard	NM_018912		Approved	PCDH-GAMMA-A1		Q9Y5H4		ENST00000517417.1:c.1601C>T	5.37:g.140711852C>T	ENSP00000431083:p.Ala534Val					PCDHGA1_ENST00000378105.3_Missense_Mutation_p.A534V	p.A534V	NM_018912.2	NP_061735.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1601	+								Q2M273|Q9Y5D6	Missense_Mutation	SNP	ENST00000517417.1	37	c.1601C>T	CCDS54922.1	.	.	.	.	.	.	.	.	.	.	C	12.25	1.882737	0.33255	.	.	ENSG00000204956	ENST00000517417;ENST00000378105	T;T	0.73363	-0.74;-0.74	3.82	3.82	0.43975	Cadherin (5);Cadherin-like (1);	0.000000	0.47093	D	0.000243	D	0.87172	0.6111	M	0.87827	2.91	0.33379	D	0.574631	D;D	0.89917	1.0;1.0	D;D	0.72625	0.978;0.954	D	0.92271	0.5825	10	0.87932	D	0	.	15.8705	0.79117	0.0:1.0:0.0:0.0	.	534;534	Q9Y5H4-2;Q9Y5H4	.;PCDG1_HUMAN	V	534	ENSP00000431083:A534V;ENSP00000367345:A534V	ENSP00000367345:A534V	A	+	2	0	PCDHGA1	140692036	0.543000	0.26434	0.032000	0.17829	0.023000	0.10783	1.225000	0.32551	2.127000	0.65507	0.557000	0.71058	GCG		0.597	PCDHGA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000374737.1	NM_018912		44	83	0	0	0	1	0	44	83					T	140711852	C	T	140711852	3	4	435	1	0	0	0	0	1	0	0	0	11550	768	27	1	1603	1	PCDHGA1	5	140711852	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	1215	140711852	40203408	2866	23791											
PCDHGA1	56114	broad.mit.edu	37	chr5	140712130	140712130	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtctgcacacgggcgaggtgCgcacggcgcgagccctgctg	5	5	17	14	6	1	0	0	0	1	0	1	2	1	0	1	3	4	3	1	3	0	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:140712130C>T	ENST00000517417.1	+	1	1879	c.1879C>T	c.(1879-1881)Cgc>Tgc	p.R627C	PCDHGA1_ENST00000378105.3_Missense_Mutation_p.R627C	NM_018912.2	NP_061735.1	Q9Y5H4	PCDG1_HUMAN	protocadherin gamma subfamily A, 1	627	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|lung(32)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGGCGAGGTGCGCACGGCGCG	0.697																																						ENST00000517417.1																			0				breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|lung(32)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	78						c.(1879-1881)Cgc>Tgc									23	28	26					5																	140712130		2182	4255	6437	SO:0001583	missense	0							g.chr5:140712130C>T	AF152318	CCDS54922.1	5q31	2010-01-26				ENSG00000204956		"Cadherins / Protocadherins : Clustered"	8696	other	protocadherin		606288				10380929	Standard	NM_018912		Approved	PCDH-GAMMA-A1		Q9Y5H4		ENST00000517417.1:c.1879C>T	5.37:g.140712130C>T	ENSP00000431083:p.Arg627Cys					PCDHGA1_ENST00000378105.3_Missense_Mutation_p.R627C	p.R627C	NM_018912.2	NP_061735.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1879	+								Q2M273|Q9Y5D6	Missense_Mutation	SNP	ENST00000517417.1	37	c.1879C>T	CCDS54922.1	.	.	.	.	.	.	.	.	.	.	C	13.69	2.311597	0.40895	.	.	ENSG00000204956	ENST00000517417;ENST00000378105	T;T	0.52754	0.65;0.65	3.92	2.96	0.34315	Cadherin (4);Cadherin-like (1);	0.292105	0.21849	N	0.068210	T	0.62344	0.2420	H	0.96269	3.795	0.33936	D	0.642664	P;P	0.49358	0.923;0.845	B;B	0.44224	0.316;0.444	T	0.81052	-0.1107	10	0.87932	D	0	.	10.8694	0.46875	0.2491:0.7509:0.0:0.0	.	627;627	Q9Y5H4-2;Q9Y5H4	.;PCDG1_HUMAN	C	627	ENSP00000431083:R627C;ENSP00000367345:R627C	ENSP00000367345:R627C	R	+	1	0	PCDHGA1	140692314	0.656000	0.27385	1.000000	0.80357	0.968000	0.65278	0.498000	0.22530	2.204000	0.70986	0.580000	0.79431	CGC		0.697	PCDHGA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000374737.1	NM_018912		13	32	0	0	0	1	0	13	32					T	140712130	C	T	140712130	3	4	435	1	0	0	0	0	1	0	0	0	11550	768	27	1	1881	1	PCDHGA1	5	140712130	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	278	140712130	40203130	2867	23792											
PCDHGA1	56114	broad.mit.edu	37	chr5	140712162	140712162	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gccctgctggacagagacgcGctcaagcagagtctcgtggt	8	7	14	12	3	2	2	1	0	1	2	3	4	2	3	1	2	2	3	1	2	1	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:140712162G>A	ENST00000517417.1	+	1	1911	c.1911G>A	c.(1909-1911)gcG>gcA	p.A637A	PCDHGA1_ENST00000378105.3_Silent_p.A637A	NM_018912.2	NP_061735.1	Q9Y5H4	PCDG1_HUMAN	protocadherin gamma subfamily A, 1	637	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.A637A(1)		breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|lung(32)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACAGAGACGCGCTCAAGCAGA	0.697																																						ENST00000517417.1																			1	Substitution - coding silent(1)	p.A637A(1)	ovary(1)	breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|lung(32)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	78						c.(1909-1911)gcG>gcA									38	43	41					5																	140712162		2200	4297	6497	SO:0001819	synonymous_variant	0							g.chr5:140712162G>A	AF152318	CCDS54922.1	5q31	2010-01-26				ENSG00000204956		"Cadherins / Protocadherins : Clustered"	8696	other	protocadherin		606288				10380929	Standard	NM_018912		Approved	PCDH-GAMMA-A1		Q9Y5H4		ENST00000517417.1:c.1911G>A	5.37:g.140712162G>A						PCDHGA1_ENST00000378105.3_Silent_p.A637A	p.A637A	NM_018912.2	NP_061735.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1911	+								Q2M273|Q9Y5D6	Silent	SNP	ENST00000517417.1	37	c.1911G>A	CCDS54922.1																																																																																				0.697	PCDHGA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000374737.1	NM_018912		25	17	0	0	0	1	0	25	17					A	140712162	G	A	140712162	2	1	435	1	0	0	0	0	0	0	0	1	11550	1074	38	1		1	PCDHGA1	5	140712162	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	32	140712162	40203098	2868	23793											
PCDHGA1	56114	broad.mit.edu	37	chr5	140712458	140712458	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	aggcggcttagcgagcatgcCcggttcgcactttgtgggcg	5	9	16	11	5	0	0	0	0	0	0	1	1	0	0	1	4	3	4	1	4	1	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:140712458C>T	ENST00000517417.1	+	1	2207	c.2207C>T	c.(2206-2208)cCc>cTc	p.P736L	PCDHGA1_ENST00000378105.3_Missense_Mutation_p.P736L	NM_018912.2	NP_061735.1	Q9Y5H4	PCDG1_HUMAN	protocadherin gamma subfamily A, 1	736					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|lung(32)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCGAGCATGCCCGGTTCGCAC	0.637																																						ENST00000517417.1																			0				breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|lung(32)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	78						c.(2206-2208)cCc>cTc									72	76	74					5																	140712458		2203	4300	6503	SO:0001583	missense	0							g.chr5:140712458C>T	AF152318	CCDS54922.1	5q31	2010-01-26				ENSG00000204956		"Cadherins / Protocadherins : Clustered"	8696	other	protocadherin		606288				10380929	Standard	NM_018912		Approved	PCDH-GAMMA-A1		Q9Y5H4		ENST00000517417.1:c.2207C>T	5.37:g.140712458C>T	ENSP00000431083:p.Pro736Leu					PCDHGA1_ENST00000378105.3_Missense_Mutation_p.P736L	p.P736L	NM_018912.2	NP_061735.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2207	+								Q2M273|Q9Y5D6	Missense_Mutation	SNP	ENST00000517417.1	37	c.2207C>T	CCDS54922.1	.	.	.	.	.	.	.	.	.	.	c	14.07	2.425180	0.43020	.	.	ENSG00000204956	ENST00000517417;ENST00000378105	T;T	0.51325	0.71;0.72	4.04	3.17	0.36434	.	0.665481	0.13164	N	0.408854	T	0.56992	0.2023	M	0.90369	3.11	0.34002	D	0.650469	B;B	0.24368	0.102;0.083	B;B	0.33339	0.162;0.111	T	0.66606	-0.5881	10	0.87932	D	0	.	7.1228	0.25454	0.1725:0.7397:0.0:0.0878	.	736;736	Q9Y5H4-2;Q9Y5H4	.;PCDG1_HUMAN	L	736	ENSP00000431083:P736L;ENSP00000367345:P736L	ENSP00000367345:P736L	P	+	2	0	PCDHGA1	140692642	0.021000	0.18746	0.014000	0.15608	0.008000	0.06430	2.033000	0.41136	1.057000	0.40506	-0.196000	0.12772	CCC		0.637	PCDHGA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000374737.1	NM_018912		32	47	0	0	0	1	0	32	47					T	140712458	C	T	140712458	3	4	435	1	0	0	0	0	1	0	0	0	11550	623	22	3	2209	3	PCDHGA1	5	140712458	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	296	140712458	40202802	2869	23794											
PCDHGA2	56113	broad.mit.edu	37	chr5	140720865	140720865	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tttcccccagcccaactatgCggacacgctcatcagccagg	9	7	8	17	2	2	0	2	0	0	0	3	1	3	1	4	2	4	1	4	2	2	2	rs535752252		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:140720865C>T	ENST00000394576.2	+	1	2327	c.2327C>T	c.(2326-2328)gCg>gTg	p.A776V	PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_5'Flank	NM_018915.2	NP_061738.1	Q9Y5H1	PCDG2_HUMAN	protocadherin gamma subfamily A, 2	776					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCCAACTATGCGGACACGCTC	0.527																																						ENST00000394576.2																			0				breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77						c.(2326-2328)gCg>gTg									86	93	90					5																	140720865		2203	4300	6503	SO:0001583	missense	0							g.chr5:140720865C>T	AF152508	CCDS47289.1	5q31	2011-03-28			ENSG00000081853	ENSG00000081853		"Cadherins / Protocadherins : Clustered"	8700	other	protocadherin		606289				10380929	Standard	NM_018915		Approved	PCDH-GAMMA-A2		Q9Y5H1	OTTHUMG00000163679	ENST00000394576.2:c.2327C>T	5.37:g.140720865C>T	ENSP00000378077:p.Ala776Val					PCDHGA1_ENST00000517417.1_Intron	p.A776V	NM_018915.2	NP_061738.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2327	+								Q52LL6|Q9Y5D5	Missense_Mutation	SNP	ENST00000394576.2	37	c.2327C>T	CCDS47289.1	.	.	.	.	.	.	.	.	.	.	.	9.840	1.190708	0.21954	.	.	ENSG00000081853	ENST00000394576	T	0.49720	0.77	5.39	5.39	0.77823	.	0.544744	0.13709	U	0.368267	T	0.50429	0.1615	M	0.71036	2.16	0.09310	N	1	P;B	0.43857	0.819;0.203	B;B	0.40901	0.343;0.07	T	0.51679	-0.8675	10	0.44086	T	0.13	.	13.785	0.63104	0.0:0.8464:0.1536:0.0	.	776;776	Q9Y5H1-2;Q9Y5H1	.;PCDG2_HUMAN	V	776	ENSP00000378077:A776V	ENSP00000378077:A776V	A	+	2	0	PCDHGA2	140701049	0.689000	0.27690	0.439000	0.26833	0.078000	0.17371	2.739000	0.47409	2.536000	0.85505	0.491000	0.48974	GCG		0.527	PCDHGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374738.1	NM_018915		46	85	0	0	0	1	0	46	85					T	140720865	C	T	140720865	3	4	435	1	0	0	0	0	1	0	0	0	11554	768	27	1	2329	1	PCDHGA2	5	140720865	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	8407	140720865	40194395	2870	23795											
PCDHGB1	56104	broad.mit.edu	37	chr5	140731333	140731333	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gagctgttgtcctacgtgtcCgtgagcccgcagagcggggt	5	9	16	11	4	0	2	0	1	0	1	2	3	2	2	3	2	4	3	3	2	1	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:140731333C>T	ENST00000523390.1	+	1	1506	c.1506C>T	c.(1504-1506)tcC>tcT	p.S502S	PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron	NM_018922.2|NM_032095.1	NP_061745.1|NP_115266.1	Q9Y5G3	PCDGD_HUMAN	protocadherin gamma subfamily B, 1	502	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)	16			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCTACGTGTCCGTGAGCCCGC	0.662																																						ENST00000523390.1																			0				central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)	16						c.(1504-1506)tcC>tcT									38	43	42					5																	140731333		1988	4167	6155	SO:0001819	synonymous_variant	0							g.chr5:140731333C>T	AF152517	CCDS54923.1, CCDS75330.1	5q31	2010-01-26				ENSG00000254221		"Cadherins / Protocadherins : Clustered"	8708	other	protocadherin	"protocadherin gamma subfamily B, 1, isoform 2"	606299				10380929	Standard	NM_018922		Approved	PCDH-GAMMA-B1		Q9Y5G3		ENST00000523390.1:c.1506C>T	5.37:g.140731333C>T						PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron	p.S502S	NM_018922.2|NM_032095.1	NP_061745.1|NP_115266.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1506	+								Q3SY75|Q9Y5C8	Silent	SNP	ENST00000523390.1	37	c.1506C>T	CCDS54923.1																																																																																				0.662	PCDHGB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374740.1	NM_018922		23	46	0	0	0	1	0	23	46					T	140731333	C	T	140731333	2	4	435	1	0	0	0	0	0	0	0	1	11562	639	23	2		2	PCDHGB1	5	140731333	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	10468	140731333	40183927	2871	23796											
PCDHGB1	56104	broad.mit.edu	37	chr5	140731491	140731491	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gggcgacctcaatgacaatgCgccacgggtgctgtaccccg	8	6	13	14	4	1	1	1	1	0	0	1	2	1	1	4	2	3	2	4	2	3	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:140731491C>T	ENST00000523390.1	+	1	1664	c.1664C>T	c.(1663-1665)gCg>gTg	p.A555V	PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron	NM_018922.2|NM_032095.1	NP_061745.1|NP_115266.1	Q9Y5G3	PCDGD_HUMAN	protocadherin gamma subfamily B, 1	555	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.A555V(1)		central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)	16			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AATGACAATGCGCCACGGGTG	0.692																																						ENST00000523390.1																			1	Substitution - Missense(1)	p.A555V(1)	endometrium(1)	central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)	16						c.(1663-1665)gCg>gTg									39	48	45					5																	140731491		2124	4247	6371	SO:0001583	missense	0							g.chr5:140731491C>T	AF152517	CCDS54923.1, CCDS75330.1	5q31	2010-01-26				ENSG00000254221		"Cadherins / Protocadherins : Clustered"	8708	other	protocadherin	"protocadherin gamma subfamily B, 1, isoform 2"	606299				10380929	Standard	NM_018922		Approved	PCDH-GAMMA-B1		Q9Y5G3		ENST00000523390.1:c.1664C>T	5.37:g.140731491C>T	ENSP00000429273:p.Ala555Val					PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron	p.A555V	NM_018922.2|NM_032095.1	NP_061745.1|NP_115266.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1664	+								Q3SY75|Q9Y5C8	Missense_Mutation	SNP	ENST00000523390.1	37	c.1664C>T	CCDS54923.1	.	.	.	.	.	.	.	.	.	.	.	18.31	3.596957	0.66332	.	.	ENSG00000254221	ENST00000523390	T	0.61510	0.1	5.39	5.39	0.77823	Cadherin (4);Cadherin conserved site (1);Cadherin-like (1);	.	.	.	.	T	0.58250	0.2109	L	0.56199	1.76	0.29292	N	0.869262	D;P	0.57899	0.981;0.928	P;B	0.44772	0.46;0.288	T	0.61187	-0.7113	9	0.54805	T	0.06	.	15.5049	0.75731	0.0:0.8612:0.1388:0.0	.	555;555	Q9Y5G3-2;Q9Y5G3	.;PCDGD_HUMAN	V	555	ENSP00000429273:A555V	ENSP00000429273:A555V	A	+	2	0	PCDHGB1	140711675	0.098000	0.21812	1.000000	0.80357	0.687000	0.40016	3.813000	0.55636	2.683000	0.91414	0.563000	0.77884	GCG		0.692	PCDHGB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374740.1	NM_018922		24	30	0	0	0	1	0	24	30					T	140731491	C	T	140731491	3	4	435	1	0	0	0	0	1	0	0	0	11562	768	27	1	1666	1	PCDHGB1	5	140731491	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	158	140731491	40183769	2872	23797											
PCDHGB1	56104	broad.mit.edu	37	chr5	140731726	140731726	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gccttgggcgacagggacgcGgcccgccagcgcctgctggt	4	5	17	15	5	0	0	0	0	0	0	0	2	0	1	4	4	2	1	4	4	0	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:140731726G>A	ENST00000523390.1	+	1	1899	c.1899G>A	c.(1897-1899)gcG>gcA	p.A633A	PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron	NM_018922.2|NM_032095.1	NP_061745.1|NP_115266.1	Q9Y5G3	PCDGD_HUMAN	protocadherin gamma subfamily B, 1	633	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)	16			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACAGGGACGCGGCCCGCCAGC	0.697																																						ENST00000523390.1																			0				central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)	16						c.(1897-1899)gcG>gcA									22	25	24					5																	140731726		1944	4124	6068	SO:0001819	synonymous_variant	0							g.chr5:140731726G>A	AF152517	CCDS54923.1, CCDS75330.1	5q31	2010-01-26				ENSG00000254221		"Cadherins / Protocadherins : Clustered"	8708	other	protocadherin	"protocadherin gamma subfamily B, 1, isoform 2"	606299				10380929	Standard	NM_018922		Approved	PCDH-GAMMA-B1		Q9Y5G3		ENST00000523390.1:c.1899G>A	5.37:g.140731726G>A						PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron	p.A633A	NM_018922.2|NM_032095.1	NP_061745.1|NP_115266.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1899	+								Q3SY75|Q9Y5C8	Silent	SNP	ENST00000523390.1	37	c.1899G>A	CCDS54923.1																																																																																				0.697	PCDHGB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374740.1	NM_018922		14	21	0	0	0	1	0	14	21					A	140731726	G	A	140731726	2	1	435	1	0	0	0	0	0	0	0	1	11562	1103	39	2		2	PCDHGB1	5	140731726	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	235	140731726	40183534	2873	23798											
PCDHGA5	56110	broad.mit.edu	37	chr5	140744944	140744944	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aatgcccccgaagtgatcctCacctctctgaccagttcgat	9	10	7	15	2	2	2	1	2	1	0	5	4	3	2	5	0	1	1	5	0	2	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:140744944C>T	ENST00000518069.1	+	1	1047	c.1047C>T	c.(1045-1047)ctC>ctT	p.L349L	PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB2_ENST00000522605.1_Intron	NM_018918.2|NM_032054.1	NP_061741.1|NP_114443.1	Q9Y5G8	PCDG5_HUMAN	protocadherin gamma subfamily A, 5	349	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|upper_aerodigestive_tract(3)	18			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AAGTGATCCTCACCTCTCTGA	0.512																																						ENST00000518069.1																			0				endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|upper_aerodigestive_tract(3)	18						c.(1045-1047)ctC>ctT									100	103	102					5																	140744944		2102	4249	6351	SO:0001819	synonymous_variant	0							g.chr5:140744944C>T	AF152512	CCDS54925.1, CCDS75333.1	5q31	2010-01-26				ENSG00000253485		"Cadherins / Protocadherins : Clustered"	8703	other	protocadherin	"cadherin ME3"	606292				10380929	Standard	NM_018918		Approved	CDH-GAMMA-A5, ME3, PCDH-GAMMA-A5		Q9Y5G8		ENST00000518069.1:c.1047C>T	5.37:g.140744944C>T						PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB2_ENST00000522605.1_Intron	p.L349L	NM_018918.2|NM_032054.1	NP_061741.1|NP_114443.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1047	+								Q2M3F5|Q9Y5D2	Silent	SNP	ENST00000518069.1	37	c.1047C>T	CCDS54925.1																																																																																				0.512	PCDHGA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374742.1	NM_018918		13	19	0	0	0	1	0	13	19					T	140744944	C	T	140744944	2	4	435	1	0	0	0	0	0	0	0	1	11557	813	29	3		3	PCDHGA5	5	140744944	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	13218	140744944	40170316	2874	23799											
PCDHGB3	56102	broad.mit.edu	37	chr5	140750264	140750264	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atttgtggcaagaagtcgacGtgtgttctggaatttgaaat	11	14	12	4	2	1	2	0	1	1	1	2	4	1	3	0	2	0	2	0	2	4	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:140750264G>A	ENST00000576222.1	+	1	434	c.303G>A	c.(301-303)acG>acA	p.T101T	PCDHGA1_ENST00000517417.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB2_ENST00000522605.1_Intron	NM_018924.2|NM_032097.1	NP_061747.1|NP_115268.1	Q9Y5G1	PCDGF_HUMAN	protocadherin gamma subfamily B, 3	101	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGAAGTCGACGTGTGTTCTGG	0.433																																						ENST00000576222.1																			0				endometrium(1)|kidney(1)|lung(3)	5						c.(301-303)acG>acA									172	173	173					5																	140750264		1865	4113	5978	SO:0001819	synonymous_variant	0							g.chr5:140750264G>A	AF152519	CCDS58980.1, CCDS75334.1	5q31	2010-01-26						"Cadherins / Protocadherins : Clustered"	8710	other	protocadherin		606301				10380929	Standard	NM_018924		Approved	PCDH-GAMMA-B3		Q9Y5G1		ENST00000576222.1:c.303G>A	5.37:g.140750264G>A						PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB2_ENST00000522605.1_Intron	p.T101T	NM_018924.2|NM_032097.1	NP_061747.1|NP_115268.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	434	+								A7E229|Q9Y5C7	Silent	SNP	ENST00000576222.1	37	c.303G>A	CCDS58980.1																																																																																				0.433	PCDHGB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437094.1	NM_018924		5	186	0	0	0	1	0	5	186					A	140750264	G	A	140750264	2	1	435	1	0	0	0	0	0	0	0	1	11564	1132	40	1		1	PCDHGB3	5	140750264	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	5320	140750264	40164996	2875	23800											
PCDHGA6	56109	broad.mit.edu	37	chr5	140753679	140753679	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tccgcagaggcatccgcagcGcagcgagcaggtcctgctcc	7	5	13	16	4	0	1	0	0	0	1	4	2	4	1	4	2	4	6	4	2	0	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:140753679G>A	ENST00000517434.1	+	1	29	c.29G>A	c.(28-30)cGc>cAc	p.R10H	PCDHGA1_ENST00000517417.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB2_ENST00000522605.1_Intron	NM_018919.2|NM_032086.1	NP_061742.1|NP_114475.1	Q9Y5G7	PCDG6_HUMAN	protocadherin gamma subfamily A, 6	10					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|large_intestine(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CATCCGCAGCGCAGCGAGCAG	0.587																																						ENST00000517434.1																			0				breast(1)|large_intestine(1)	2						c.(28-30)cGc>cAc									12	15	14					5																	140753679		1973	4164	6137	SO:0001583	missense	0							g.chr5:140753679G>A	AF152513	CCDS54926.1, CCDS75335.1	5q31	2010-01-26				ENSG00000253731		"Cadherins / Protocadherins : Clustered"	8704	other	protocadherin		606293				10380929	Standard	NM_018919		Approved	PCDH-GAMMA-A6		Q9Y5G7		ENST00000517434.1:c.29G>A	5.37:g.140753679G>A	ENSP00000429601:p.Arg10His					PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB2_ENST00000522605.1_Intron	p.R10H	NM_018919.2|NM_032086.1	NP_061742.1|NP_114475.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	29	+								A6H8K7|B2RN55|Q9Y5D1	Missense_Mutation	SNP	ENST00000517434.1	37	c.29G>A	CCDS54926.1	.	.	.	.	.	.	.	.	.	.	.	7.503	0.653099	0.14580	.	.	ENSG00000253731	ENST00000517434	T	0.45276	0.9	5.0	-0.531	0.11894	.	.	.	.	.	T	0.31918	0.0812	L	0.52823	1.66	0.09310	N	1	B;B	0.17268	0.021;0.012	B;B	0.12837	0.008;0.003	T	0.32188	-0.9916	9	0.15499	T	0.54	.	7.2546	0.26168	0.0999:0.0:0.3145:0.5855	.	10;10	Q9Y5G7-2;Q9Y5G7	.;PCDG6_HUMAN	H	10	ENSP00000429601:R10H	ENSP00000429601:R10H	R	+	2	0	PCDHGA6	140733863	0.000000	0.05858	0.000000	0.03702	0.013000	0.08279	0.155000	0.16362	-0.210000	0.10140	-0.467000	0.05162	CGC		0.587	PCDHGA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374743.1	NM_018919		3	9	0	0	0	1	0	3	9					A	140753679	G	A	140753679	3	1	435	1	0	0	0	0	1	0	0	0	11558	1087	38	1	31	1	PCDHGA6	5	140753679	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	3415	140753679	40161581	2876	23801											
PCDHGA6	56109	broad.mit.edu	37	chr5	140755558	140755558	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcgccctgctggacagagaCgcgctcaagcagagcctagt	9	5	13	14	4	1	2	1	0	0	2	1	4	1	3	2	1	3	3	2	1	2	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:140755558C>T	ENST00000517434.1	+	1	1908	c.1908C>T	c.(1906-1908)gaC>gaT	p.D636D	PCDHGA1_ENST00000517417.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB2_ENST00000522605.1_Intron	NM_018919.2|NM_032086.1	NP_061742.1|NP_114475.1	Q9Y5G7	PCDG6_HUMAN	protocadherin gamma subfamily A, 6	636	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|large_intestine(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGACAGAGACGCGCTCAAGC	0.701																																						ENST00000517434.1																			0				breast(1)|large_intestine(1)	2						c.(1906-1908)gaC>gaT									40	50	47					5																	140755558		2202	4296	6498	SO:0001819	synonymous_variant	0							g.chr5:140755558C>T	AF152513	CCDS54926.1, CCDS75335.1	5q31	2010-01-26				ENSG00000253731		"Cadherins / Protocadherins : Clustered"	8704	other	protocadherin		606293				10380929	Standard	NM_018919		Approved	PCDH-GAMMA-A6		Q9Y5G7		ENST00000517434.1:c.1908C>T	5.37:g.140755558C>T						PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB2_ENST00000522605.1_Intron	p.D636D	NM_018919.2|NM_032086.1	NP_061742.1|NP_114475.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1908	+								A6H8K7|B2RN55|Q9Y5D1	Silent	SNP	ENST00000517434.1	37	c.1908C>T	CCDS54926.1																																																																																				0.701	PCDHGA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374743.1	NM_018919		30	26	0	0	0	1	0	30	26					T	140755558	C	T	140755558	2	4	435	1	0	0	0	0	0	0	0	1	11558	535	19	1		1	PCDHGA6	5	140755558	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	1879	140755558	40159702	2877	23802											
PCDHGB4	8641	broad.mit.edu	37	chr5	140768945	140768945	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agtgacctggagcagcgggaGctgtcatcctacgtgtccat	8	9	13	11	2	1	1	1	1	0	0	3	3	3	3	3	2	4	2	3	2	1	1	rs574837458		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:140768945G>A	ENST00000519479.1	+	1	1494	c.1494G>A	c.(1492-1494)gaG>gaA	p.E498E	PCDHGA3_ENST00000253812.6_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA6_ENST00000517434.1_Intron	NM_003736.2|NM_018925.2|NM_032098.1	NP_003727.1|NP_061748.1|NP_115269.1	Q9UN71	PCDGG_HUMAN	protocadherin gamma subfamily B, 4	498	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(9)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|prostate(1)|stomach(3)|urinary_tract(2)	37			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGCAGCGGGAGCTGTCATCCT	0.617													.|||	1	0.000199681	8e-04	0	5008	,	,		17333	0		0	False		,,,				2504	0					ENST00000519479.1																			0				endometrium(9)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|prostate(1)|stomach(3)|urinary_tract(2)	37						c.(1492-1494)gaG>gaA									59	66	63					5																	140768945		2013	4167	6180	SO:0001819	synonymous_variant	0							g.chr5:140768945G>A	AF152520	CCDS54928.1, CCDS75337.1	5q31	2010-01-26				ENSG00000253953		"Cadherins / Protocadherins : Clustered"	8711	other	protocadherin	"fibroblast cadherin FIB2", "cadherin 20"	603058				10380929	Standard	NM_003736		Approved	FIB2, CDH20, PCDH-GAMMA-B4		Q9UN71		ENST00000519479.1:c.1494G>A	5.37:g.140768945G>A						PCDHGA6_ENST00000517434.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB2_ENST00000522605.1_Intron	p.E498E	NM_003736.2|NM_018925.2|NM_032098.1	NP_003727.1|NP_061748.1|NP_115269.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1494	+								O15099|Q2M267|Q9UN64	Silent	SNP	ENST00000519479.1	37	c.1494G>A	CCDS54928.1																																																																																				0.617	PCDHGB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374745.1	NM_003736		33	56	0	0	0	1	0	33	56					A	140768945	G	A	140768945	2	1	435	1	0	0	0	0	0	0	0	1	11565	962	34	3		3	PCDHGB4	5	140768945	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	13387	140768945	40146315	2878	23803											
PCDHGB4	8641	broad.mit.edu	37	chr5	140769586	140769586	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gattctggccattgccttgcGcctgcgacgctcctccagcc	4	10	10	17	3	1	0	0	0	1	0	3	2	3	0	6	1	4	1	6	1	0	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:140769586G>A	ENST00000519479.1	+	1	2135	c.2135G>A	c.(2134-2136)cGc>cAc	p.R712H	PCDHGA3_ENST00000253812.6_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA8_ENST00000398604.2_5'Flank	NM_003736.2|NM_018925.2|NM_032098.1	NP_003727.1|NP_061748.1|NP_115269.1	Q9UN71	PCDGG_HUMAN	protocadherin gamma subfamily B, 4	712					calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.R712H(1)		endometrium(9)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|prostate(1)|stomach(3)|urinary_tract(2)	37			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATTGCCTTGCGCCTGCGACGC	0.602																																						ENST00000519479.1																			1	Substitution - Missense(1)	p.R712H(1)	large_intestine(1)	endometrium(9)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|prostate(1)|stomach(3)|urinary_tract(2)	37						c.(2134-2136)cGc>cAc									148	162	157					5																	140769586		2090	4215	6305	SO:0001583	missense	0							g.chr5:140769586G>A	AF152520	CCDS54928.1, CCDS75337.1	5q31	2010-01-26				ENSG00000253953		"Cadherins / Protocadherins : Clustered"	8711	other	protocadherin	"fibroblast cadherin FIB2", "cadherin 20"	603058				10380929	Standard	NM_003736		Approved	FIB2, CDH20, PCDH-GAMMA-B4		Q9UN71		ENST00000519479.1:c.2135G>A	5.37:g.140769586G>A	ENSP00000428288:p.Arg712His					PCDHGA6_ENST00000517434.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB2_ENST00000522605.1_Intron	p.R712H	NM_003736.2|NM_018925.2|NM_032098.1	NP_003727.1|NP_061748.1|NP_115269.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2135	+								O15099|Q2M267|Q9UN64	Missense_Mutation	SNP	ENST00000519479.1	37	c.2135G>A	CCDS54928.1	.	.	.	.	.	.	.	.	.	.	.	13.97	2.395369	0.42512	.	.	ENSG00000253953	ENST00000519479	T	0.13420	2.59	5.31	2.25	0.28309	.	.	.	.	.	T	0.17152	0.0412	M	0.77712	2.385	0.09310	N	1	B;B	0.16166	0.003;0.016	B;B	0.15870	0.005;0.014	T	0.17440	-1.0369	9	0.56958	D	0.05	.	6.2792	0.20997	0.2395:0.137:0.6235:0.0	.	712;712	Q9UN71-2;Q9UN71	.;PCDGG_HUMAN	H	712	ENSP00000428288:R712H	ENSP00000428288:R712H	R	+	2	0	PCDHGB4	140749770	0.000000	0.05858	0.630000	0.29268	0.709000	0.40893	-0.110000	0.10824	1.193000	0.43086	0.563000	0.77884	CGC		0.602	PCDHGB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374745.1	NM_003736		68	120	0	0	0	1	0	68	120					A	140769586	G	A	140769586	3	1	435	1	0	0	0	0	1	0	0	0	11565	1087	38	1	2137	1	PCDHGB4	5	140769586	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	641	140769586	40145674	2879	23804											
PCDHGA8	9708	broad.mit.edu	37	chr5	140773156	140773156	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgagaacatgcccccaggcaCgcggctgcttactgtaacag	10	7	11	13	2	0	1	0	1	0	1	0	2	0	1	2	2	5	4	2	2	3	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:140773156C>T	ENST00000398604.2	+	1	776	c.776C>T	c.(775-777)aCg>aTg	p.T259M	PCDHGA3_ENST00000253812.6_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA6_ENST00000517434.1_Intron	NM_032088.1	NP_114477.1	Q9Y5G5	PCDG8_HUMAN	protocadherin gamma subfamily A, 8	259	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(6)|kidney(6)|large_intestine(6)|lung(30)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	51			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCCCCAGGCACGCGGCTGCTT	0.488																																						ENST00000398604.2																			0				endometrium(6)|kidney(6)|large_intestine(6)|lung(30)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	51						c.(775-777)aCg>aTg									73	78	76					5																	140773156		1928	4137	6065	SO:0001583	missense	0							g.chr5:140773156C>T	AF152515	CCDS47291.1, CCDS75338.1	5q31	2010-01-26			ENSG00000253767	ENSG00000253767		"Cadherins / Protocadherins : Clustered"	8706	other	protocadherin		606295				10380929	Standard	NM_014004		Approved	KIAA0327, PCDH-GAMMA-A8		Q9Y5G5	OTTHUMG00000164053	ENST00000398604.2:c.776C>T	5.37:g.140773156C>T	ENSP00000381605:p.Thr259Met					PCDHGA3_ENST00000253812.6_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA6_ENST00000517434.1_Intron	p.T259M	NM_032088.1	NP_114477.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	776	+								A7MCZ4|O15039	Missense_Mutation	SNP	ENST00000398604.2	37	c.776C>T	CCDS47291.1	.	.	.	.	.	.	.	.	.	.	.	17.25	3.342398	0.61073	.	.	ENSG00000253767	ENST00000398604	T	0.58358	0.34	5.41	5.41	0.78517	Cadherin (4);Cadherin-like (1);	0.000000	0.31936	U	0.006822	T	0.79499	0.4456	M	0.91920	3.255	0.40981	D	0.984778	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.99	D	0.84356	0.0535	10	0.66056	D	0.02	.	18.8047	0.92032	0.0:1.0:0.0:0.0	.	259;259	Q9Y5G5;Q9Y5G5-2	PCDG8_HUMAN;.	M	259	ENSP00000381605:T259M	ENSP00000381605:T259M	T	+	2	0	PCDHGA8	140753340	0.037000	0.19845	0.773000	0.31616	0.489000	0.33432	3.220000	0.51207	2.552000	0.86080	0.655000	0.94253	ACG		0.488	PCDHGA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376972.1	NM_032088		27	69	0	0	0	1	0	27	69					T	140773156	C	T	140773156	3	4	435	1	0	0	0	0	1	0	0	0	11560	536	19	1	778	1	PCDHGA8	5	140773156	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	3570	140773156	40142104	2880	23805											
PCDHGA9	56107	broad.mit.edu	37	chr5	140782757	140782757	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcttttctctctgaacccgCgcagcggcaccttggtcacc	6	10	9	16	3	3	1	1	1	2	0	4	1	3	1	3	2	3	3	3	2	1	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:140782757C>T	ENST00000573521.1	+	1	238	c.238C>T	c.(238-240)Cgc>Tgc	p.R80C	PCDHGA3_ENST00000253812.6_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA8_ENST00000398604.2_Intron	NM_018921.2|NM_032089.1	NP_061744.1|NP_114478.1	Q9Y5G4	PCDG9_HUMAN	protocadherin gamma subfamily A, 9	80	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCTGAACCCGCGCAGCGGCAC	0.617																																						ENST00000573521.1																			0				endometrium(1)|kidney(1)|lung(3)	5						c.(238-240)Cgc>Tgc									51	60	57					5																	140782757		2046	4226	6272	SO:0001583	missense	0							g.chr5:140782757C>T	AF152516	CCDS58981.1, CCDS75341.1	5q31	2010-01-26						"Cadherins / Protocadherins : Clustered"	8707	other	protocadherin		606296				10380929	Standard	NM_018921		Approved	PCDH-GAMMA-A9		Q9Y5G4		ENST00000573521.1:c.238C>T	5.37:g.140782757C>T	ENSP00000460274:p.Arg80Cys					PCDHGA3_ENST00000253812.6_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA6_ENST00000517434.1_Intron	p.R80C	NM_018921.2|NM_032089.1	NP_061744.1|NP_114478.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	238	+								A2RU65|Q9Y5C9	Missense_Mutation	SNP	ENST00000573521.1	37	c.238C>T	CCDS58981.1																																																																																				0.617	PCDHGA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437105.1	NM_018921		34	45	0	0	0	1	0	34	45					T	140782757	C	T	140782757	3	4	435	1	0	0	0	0	1	0	0	0	11561	768	27	1	240	1	PCDHGA9	5	140782757	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	9601	140782757	40132503	2881	23806											
PCDHGB6	56100	broad.mit.edu	37	chr5	140788076	140788076	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcaaagagagaagaagatgtGagttgcaattggaagctgtg	15	8	15	3	0	0	5	0	1	0	4	0	7	0	6	0	1	2	4	0	1	5	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:140788076G>A	ENST00000520790.1	+	1	307	c.307G>A	c.(307-309)Gag>Aag	p.E103K	PCDHGA3_ENST00000253812.6_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA8_ENST00000398604.2_Intron	NM_018926.2|NM_032100.1	NP_061749.1|NP_115271.1	Q9Y5F9	PCDGI_HUMAN	protocadherin gamma subfamily B, 6	103	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)	48			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AAGAAGATGTGAGTTGCAATT	0.438																																						ENST00000520790.1																			0				breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)	48						c.(307-309)Gag>Aag									164	173	170					5																	140788076		1877	4106	5983	SO:0001583	missense	0							g.chr5:140788076G>A	AF152522	CCDS54929.1, CCDS75342.1	5q31	2010-01-26				ENSG00000253305		"Cadherins / Protocadherins : Clustered"	8713	other	protocadherin		606303				10380929	Standard	NM_018926		Approved	PCDH-GAMMA-B6		Q9Y5F9		ENST00000520790.1:c.307G>A	5.37:g.140788076G>A	ENSP00000428603:p.Glu103Lys					PCDHGA3_ENST00000253812.6_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA6_ENST00000517434.1_Intron	p.E103K	NM_018926.2|NM_032100.1	NP_061749.1|NP_115271.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	307	+								Q9Y5C5	Missense_Mutation	SNP	ENST00000520790.1	37	c.307G>A	CCDS54929.1	.	.	.	.	.	.	.	.	.	.	g	12.53	1.966426	0.34659	.	.	ENSG00000253305	ENST00000520790	T	0.26957	1.7	5.38	5.38	0.77491	Cadherin, N-terminal (1);Cadherin (3);Cadherin-like (1);	.	.	.	.	T	0.30355	0.0762	M	0.63843	1.955	0.22446	N	0.999092	P;P	0.41188	0.741;0.696	B;B	0.42462	0.388;0.185	T	0.27434	-1.0074	9	0.51188	T	0.08	.	9.1294	0.36835	0.0:0.1278:0.6113:0.2609	.	103;103	Q9Y5F9;Q9Y5F9-2	PCDGI_HUMAN;.	K	103	ENSP00000428603:E103K	ENSP00000428603:E103K	E	+	1	0	PCDHGB6	140768260	0.000000	0.05858	0.998000	0.56505	0.509000	0.34042	0.126000	0.15769	2.517000	0.84864	0.467000	0.42956	GAG		0.438	PCDHGB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374746.1	NM_018926		23	57	0	0	0	1	0	23	57					A	140788076	G	A	140788076	3	1	435	1	0	0	0	0	1	0	0	0	11567	1291	45	3	309	3	PCDHGB6	5	140788076	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	5319	140788076	40127184	2882	23807											
PCDHGA10	56106	broad.mit.edu	37	chr5	140795118	140795118	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caggagagctgtgagaaaaaCgatcctttgtctttgttaga	12	12	11	6	1	1	3	0	1	1	3	2	6	2	3	1	1	2	2	1	1	3	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:140795118C>T	ENST00000398610.2	+	1	2376	c.2376C>T	c.(2374-2376)aaC>aaT	p.N792N	PCDHGA3_ENST00000253812.6_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB7_ENST00000398594.2_5'Flank|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA8_ENST00000398604.2_Intron	NM_018913.2|NM_032090.1	NP_061736.1|NP_114479.1	Q9Y5H3	PCDGA_HUMAN	protocadherin gamma subfamily A, 10	792					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	43			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTGAGAAAAACGATCCTTTGT	0.433																																						ENST00000398610.2																			0				breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						c.(2374-2376)aaC>aaT									83	89	87					5																	140795118		2203	4300	6503	SO:0001819	synonymous_variant	0							g.chr5:140795118C>T		CCDS47292.1, CCDS75343.1	5q31	2010-01-26			ENSG00000253846	ENSG00000253846		"Cadherins / Protocadherins : Clustered"	8697	other	protocadherin		606297				10380929	Standard	NM_018913		Approved	PCDH-GAMMA-A10		Q9Y5H3	OTTHUMG00000163688	ENST00000398610.2:c.2376C>T	5.37:g.140795118C>T						PCDHGA3_ENST00000253812.6_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA6_ENST00000517434.1_Intron	p.N792N	NM_018913.2|NM_032090.1	NP_061736.1|NP_114479.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2376	+								Q9Y5E0	Silent	SNP	ENST00000398610.2	37	c.2376C>T	CCDS47292.1																																																																																				0.433	PCDHGA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374747.1	NM_018913		28	40	0	0	0	1	0	28	40					T	140795118	C	T	140795118	2	4	435	1	0	0	0	0	0	0	0	1	11551	535	19	1		1	PCDHGA10	5	140795118	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	7042	140795118	40120142	2883	23808											
PCDHGB7	56099	broad.mit.edu	37	chr5	140799298	140799298	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcctggggctgcgaacaggCgaggtgcgcatggtgcgtgc	6	6	19	10	4	0	0	0	0	0	0	0	2	0	0	1	5	6	2	1	5	1	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:140799298C>T	ENST00000398594.2	+	1	1872	c.1872C>T	c.(1870-1872)ggC>ggT	p.G624G	PCDHGA3_ENST00000253812.6_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA11_ENST00000398587.2_5'Flank|PCDHGA11_ENST00000518882.1_5'Flank|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA8_ENST00000398604.2_Intron	NM_018927.3	NP_061750.1	Q9Y5F8	PCDGJ_HUMAN	protocadherin gamma subfamily B, 7	624	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(13)|lung(15)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(3)	56			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGCGAACAGGCGAGGTGCGCA	0.657																																						ENST00000398594.2																			0				central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(13)|lung(15)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(3)	56						c.(1870-1872)ggC>ggT									50	56	54					5																	140799298		2187	4287	6474	SO:0001819	synonymous_variant	0							g.chr5:140799298C>T	AF152523	CCDS47293.1, CCDS75344.1	5q31	2010-01-26			ENSG00000254122	ENSG00000254122		"Cadherins / Protocadherins : Clustered"	8714	other	protocadherin	"cadherin ME6"	606304				10380929	Standard	NM_032101		Approved	ME6, PCDH-GAMMA-B7		Q9Y5F8	OTTHUMG00000164054	ENST00000398594.2:c.1872C>T	5.37:g.140799298C>T						PCDHGA3_ENST00000253812.6_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA6_ENST00000517434.1_Intron	p.G624G	NM_018927.3	NP_061750.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1872	+								Q9UN63	Silent	SNP	ENST00000398594.2	37	c.1872C>T	CCDS47293.1																																																																																				0.657	PCDHGB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376973.1	NM_018927		4	72	0	0	0	1	0	4	72					T	140799298	C	T	140799298	2	4	435	1	0	0	0	0	0	0	0	1	11568	755	27	1		1	PCDHGB7	5	140799298	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	4180	140799298	40115962	2884	23809											
PCDHGC3	5098	broad.mit.edu	37	chr5	140856593	140856593	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tagaccttgtaaccgggatgCtgacaatcaagggtcggctg	10	9	13	9	2	1	2	1	1	0	1	2	3	1	3	2	3	2	3	2	3	4	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:140856593C>T	ENST00000308177.3	+	1	1014	c.910C>T	c.(910-912)Ctg>Ttg	p.L304L	PCDHGA3_ENST00000253812.6_Intron|PCDHGB4_ENST00000519479.1_Intron|RN7SL68P_ENST00000488078.2_RNA|PCDHGB3_ENST00000576222.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA8_ENST00000398604.2_Intron	NM_002588.2|NM_032402.1	NP_002579.2|NP_115778.1	Q9UN70	PCDGK_HUMAN	protocadherin gamma subfamily C, 3	304	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|skin(2)|urinary_tract(1)	29			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AACCGGGATGCTGACAATCAA	0.542																																						ENST00000308177.3																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|skin(2)|urinary_tract(1)	29						c.(910-912)Ctg>Ttg									74	74	74					5																	140856593		2203	4300	6503	SO:0001819	synonymous_variant	0							g.chr5:140856593C>T	AF152337	CCDS4261.1, CCDS75347.1, CCDS75348.1	5q31	2010-01-26			ENSG00000240184	ENSG00000240184		"Cadherins / Protocadherins : Clustered"	8716	other	protocadherin	"cadherin-like 2", "protocadherin 2", "protocadherin 43"	603627		PCDH2		9360932, 8508762	Standard	NM_032402		Approved	PC-43, PC43, PCDH-GAMMA-C3		Q9UN70	OTTHUMG00000129613	ENST00000308177.3:c.910C>T	5.37:g.140856593C>T						PCDHGA3_ENST00000253812.6_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA11_ENST00000518882.1_Intron	p.L304L	NM_002588.2|NM_032402.1	NP_002579.2|NP_115778.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1014	+								O60622|Q08192|Q9Y5C4	Silent	SNP	ENST00000308177.3	37	c.910C>T	CCDS4261.1																																																																																				0.542	PCDHGC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251808.2	NM_002588		34	39	0	0	0	1	0	34	39					T	140856593	C	T	140856593	2	4	435	1	0	0	0	0	0	0	0	1	11569	796	28	3		3	PCDHGC3	5	140856593	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	57295	140856593	40058667	2885	23810											
PCDHGC3	5098	broad.mit.edu	37	chr5	140857013	140857013	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tctcagcccttacaatagtgCgtgttcaagtgtccgacatc	9	12	8	12	2	2	0	2	0	1	0	5	1	3	0	2	0	3	1	2	0	4	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:140857013C>T	ENST00000308177.3	+	1	1434	c.1330C>T	c.(1330-1332)Cgt>Tgt	p.R444C	PCDHGA3_ENST00000253812.6_Intron|PCDHGB4_ENST00000519479.1_Intron|RN7SL68P_ENST00000488078.2_RNA|PCDHGB3_ENST00000576222.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA8_ENST00000398604.2_Intron	NM_002588.2|NM_032402.1	NP_002579.2|NP_115778.1	Q9UN70	PCDGK_HUMAN	protocadherin gamma subfamily C, 3	444	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.R444C(2)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|skin(2)|urinary_tract(1)	29			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TACAATAGTGCGTGTTCAAGT	0.522																																						ENST00000308177.3																			2	Substitution - Missense(2)	p.R444C(2)	large_intestine(2)	breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|skin(2)|urinary_tract(1)	29						c.(1330-1332)Cgt>Tgt									124	124	124					5																	140857013		2203	4300	6503	SO:0001583	missense	0							g.chr5:140857013C>T	AF152337	CCDS4261.1, CCDS75347.1, CCDS75348.1	5q31	2010-01-26			ENSG00000240184	ENSG00000240184		"Cadherins / Protocadherins : Clustered"	8716	other	protocadherin	"cadherin-like 2", "protocadherin 2", "protocadherin 43"	603627		PCDH2		9360932, 8508762	Standard	NM_032402		Approved	PC-43, PC43, PCDH-GAMMA-C3		Q9UN70	OTTHUMG00000129613	ENST00000308177.3:c.1330C>T	5.37:g.140857013C>T	ENSP00000312070:p.Arg444Cys					PCDHGA3_ENST00000253812.6_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA11_ENST00000518882.1_Intron	p.R444C	NM_002588.2|NM_032402.1	NP_002579.2|NP_115778.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1434	+								O60622|Q08192|Q9Y5C4	Missense_Mutation	SNP	ENST00000308177.3	37	c.1330C>T	CCDS4261.1	.	.	.	.	.	.	.	.	.	.	C	9.017	0.984037	0.18889	.	.	ENSG00000240184	ENST00000308177	T	0.54279	0.58	5.19	0.914	0.19360	Cadherin (5);Cadherin-like (1);	.	.	.	.	T	0.48095	0.1481	M	0.62209	1.925	0.09310	N	1	P;D	0.57257	0.941;0.979	B;B	0.43360	0.417;0.409	T	0.37384	-0.9708	9	0.38643	T	0.18	.	8.9568	0.35823	0.4851:0.4446:0.0:0.0703	.	444;444	Q9UN70;Q9UN70-2	PCDGK_HUMAN;.	C	444	ENSP00000312070:R444C	ENSP00000312070:R444C	R	+	1	0	PCDHGC3	140837197	0.000000	0.05858	0.134000	0.22075	0.431000	0.31685	0.205000	0.17356	0.362000	0.24319	0.655000	0.94253	CGT		0.522	PCDHGC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251808.2	NM_002588		27	30	0	0	0	1	0	27	30					T	140857013	C	T	140857013	3	4	435	1	0	0	0	0	1	0	0	0	11569	768	27	1	1332	1	PCDHGC3	5	140857013	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	420	140857013	40058247	2886	23811											
PCDHGC3	5098	broad.mit.edu	37	chr5	140857027	140857027	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atagtgcgtgttcaagtgtcCgacatcaatgacaaccctcc	11	10	8	12	2	2	1	2	1	0	0	4	2	4	1	3	0	2	1	3	0	4	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:140857027C>T	ENST00000308177.3	+	1	1448	c.1344C>T	c.(1342-1344)tcC>tcT	p.S448S	PCDHGA3_ENST00000253812.6_Intron|PCDHGB4_ENST00000519479.1_Intron|RN7SL68P_ENST00000488078.2_RNA|PCDHGB3_ENST00000576222.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA8_ENST00000398604.2_Intron	NM_002588.2|NM_032402.1	NP_002579.2|NP_115778.1	Q9UN70	PCDGK_HUMAN	protocadherin gamma subfamily C, 3	448	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|skin(2)|urinary_tract(1)	29			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTCAAGTGTCCGACATCAATG	0.507																																						ENST00000308177.3																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|skin(2)|urinary_tract(1)	29						c.(1342-1344)tcC>tcT									139	140	140					5																	140857027		2203	4300	6503	SO:0001819	synonymous_variant	0							g.chr5:140857027C>T	AF152337	CCDS4261.1, CCDS75347.1, CCDS75348.1	5q31	2010-01-26			ENSG00000240184	ENSG00000240184		"Cadherins / Protocadherins : Clustered"	8716	other	protocadherin	"cadherin-like 2", "protocadherin 2", "protocadherin 43"	603627		PCDH2		9360932, 8508762	Standard	NM_032402		Approved	PC-43, PC43, PCDH-GAMMA-C3		Q9UN70	OTTHUMG00000129613	ENST00000308177.3:c.1344C>T	5.37:g.140857027C>T						PCDHGA3_ENST00000253812.6_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA11_ENST00000518882.1_Intron	p.S448S	NM_002588.2|NM_032402.1	NP_002579.2|NP_115778.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1448	+								O60622|Q08192|Q9Y5C4	Silent	SNP	ENST00000308177.3	37	c.1344C>T	CCDS4261.1																																																																																				0.507	PCDHGC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251808.2	NM_002588		26	40	0	0	0	1	0	26	40					T	140857027	C	T	140857027	2	4	435	1	0	0	0	0	0	0	0	1	11569	639	23	2		2	PCDHGC3	5	140857027	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	14	140857027	40058233	2887	23812											
PCDHGC4	56098	broad.mit.edu	37	chr5	140865341	140865341	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tgctcctggagaagcctttgGatcgagagaagcaatcggac	11	8	13	9	2	0	2	0	0	0	2	3	7	1	4	2	3	3	2	2	3	3	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:140865341G>A	ENST00000306593.1	+	1	601	c.601G>A	c.(601-603)Gat>Aat	p.D201N	PCDHGA3_ENST00000253812.6_Intron|PCDHGC3_ENST00000308177.3_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA8_ENST00000398604.2_Intron	NM_018928.2|NM_032406.1	NP_061751.1|NP_115782.1	Q9Y5F7	PCDGL_HUMAN	protocadherin gamma subfamily C, 4	201	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(13)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	42			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAAGCCTTTGGATCGAGAGAA	0.592																																						ENST00000306593.1																			0				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(13)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	42						c.(601-603)Gat>Aat									35	39	38					5																	140865341		2203	4300	6503	SO:0001583	missense	0							g.chr5:140865341G>A	AF152525	CCDS4262.1, CCDS75349.1	5q31	2010-01-26			ENSG00000242419	ENSG00000242419		"Cadherins / Protocadherins : Clustered"	8717	other	protocadherin		606305				10380929	Standard	NM_018928		Approved	PCDH-GAMMA-C4		Q9Y5F7	OTTHUMG00000129625	ENST00000306593.1:c.601G>A	5.37:g.140865341G>A	ENSP00000306918:p.Asp201Asn					PCDHGA3_ENST00000253812.6_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGC3_ENST00000308177.3_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA11_ENST00000518882.1_Intron	p.D201N	NM_018928.2|NM_032406.1	NP_061751.1|NP_115782.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	601	+								Q495T2|Q9Y5C3	Missense_Mutation	SNP	ENST00000306593.1	37	c.601G>A	CCDS4262.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.357363	0.82243	.	.	ENSG00000242419	ENST00000306593	T	0.63417	-0.04	5.0	5.0	0.66597	Cadherin (4);Cadherin-like (1);	.	.	.	.	D	0.85186	0.5639	H	0.94771	3.58	0.46849	D	0.999223	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.89389	0.3687	9	0.87932	D	0	.	18.1025	0.89510	0.0:0.0:1.0:0.0	.	201;201	Q9Y5F7-2;Q9Y5F7	.;PCDGL_HUMAN	N	201	ENSP00000306918:D201N	ENSP00000306918:D201N	D	+	1	0	PCDHGC4	140845525	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	9.657000	0.98554	2.596000	0.87737	0.561000	0.74099	GAT		0.592	PCDHGC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251820.1	NM_018928		14	12	0	0	0	1	0	14	12					A	140865341	G	A	140865341	3	1	435	1	0	0	0	0	1	0	0	0	11570	1174	41	3	603	3	PCDHGC4	5	140865341	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	8314	140865341	40049919	2888	23813											
PCDHGC4	56098	broad.mit.edu	37	chr5	140866578	140866578	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ttcctatcagctcctggaggCcccagatcccagcctgtttg	6	11	9	15	0	1	1	1	0	0	1	4	2	4	2	6	2	2	2	6	2	1	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:140866578C>T	ENST00000306593.1	+	1	1838	c.1838C>T	c.(1837-1839)gCc>gTc	p.A613V	PCDHGA3_ENST00000253812.6_Intron|PCDHGC3_ENST00000308177.3_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGC5_ENST00000252087.1_5'Flank|PCDHGB3_ENST00000576222.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA8_ENST00000398604.2_Intron	NM_018928.2|NM_032406.1	NP_061751.1|NP_115782.1	Q9Y5F7	PCDGL_HUMAN	protocadherin gamma subfamily C, 4	613	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(13)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	42			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTCCTGGAGGCCCCAGATCCC	0.557																																						ENST00000306593.1																			0				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(13)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	42						c.(1837-1839)gCc>gTc									66	58	61					5																	140866578		2203	4300	6503	SO:0001583	missense	0							g.chr5:140866578C>T	AF152525	CCDS4262.1, CCDS75349.1	5q31	2010-01-26			ENSG00000242419	ENSG00000242419		"Cadherins / Protocadherins : Clustered"	8717	other	protocadherin		606305				10380929	Standard	NM_018928		Approved	PCDH-GAMMA-C4		Q9Y5F7	OTTHUMG00000129625	ENST00000306593.1:c.1838C>T	5.37:g.140866578C>T	ENSP00000306918:p.Ala613Val					PCDHGA3_ENST00000253812.6_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGC3_ENST00000308177.3_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA11_ENST00000518882.1_Intron	p.A613V	NM_018928.2|NM_032406.1	NP_061751.1|NP_115782.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1838	+								Q495T2|Q9Y5C3	Missense_Mutation	SNP	ENST00000306593.1	37	c.1838C>T	CCDS4262.1	.	.	.	.	.	.	.	.	.	.	C	18.57	3.652912	0.67472	.	.	ENSG00000242419	ENST00000306593	T	0.51817	0.69	5.67	5.67	0.87782	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.69788	0.3150	M	0.73217	2.22	0.32980	D	0.52353	B;D	0.67145	0.335;0.996	B;D	0.72338	0.19;0.977	T	0.76520	-0.2929	9	0.87932	D	0	.	19.3791	0.94525	0.0:1.0:0.0:0.0	.	613;613	Q9Y5F7-2;Q9Y5F7	.;PCDGL_HUMAN	V	613	ENSP00000306918:A613V	ENSP00000306918:A613V	A	+	2	0	PCDHGC4	140846762	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.682000	0.54656	2.665000	0.90641	0.591000	0.81541	GCC		0.557	PCDHGC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251820.1	NM_018928		16	15	0	0	0	1	0	16	15					T	140866578	C	T	140866578	3	4	435	1	0	0	0	0	1	0	0	0	11570	739	26	3	1840	3	PCDHGC4	5	140866578	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	1237	140866578	40048682	2889	23814											
FCHSD1	89848	broad.mit.edu	37	chr5	141029928	141029928	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagagaaaagtcccatacctGcccatactcccgttcaatgg	12	8	7	14	1	1	1	1	0	0	1	3	2	3	1	4	1	3	1	4	1	5	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:141029928G>A	ENST00000435817.2	-	3	213	c.163C>T	c.(163-165)Cag>Tag	p.Q55*	FCHSD1_ENST00000522783.1_Nonsense_Mutation_p.Q55*|FCHSD1_ENST00000523856.1_5'Flank|FCHSD1_ENST00000522126.1_5'UTR|FCHSD1_ENST00000519800.1_Nonsense_Mutation_p.Q55*	NM_033449.2	NP_258260.1	Q86WN1	FCSD1_HUMAN	FCH and double SH3 domains 1	55	FCH. {ECO:0000255|PROSITE- ProRule:PRU00083}.								FCHSD1/BRAF(2)	central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCCCATACCTGCCCATACTCC	0.507																																						ENST00000435817.2																		FCHSD1/BRAF(2)	0				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						c.(163-165)Cag>Tag		FCH and double SH3 domains 1							113	116	115					5																	141029928		1975	4154	6129	SO:0001587	stop_gained	89848							g.chr5:141029928G>A	AK027281	CCDS47295.1	5q31.3	2008-02-05			ENSG00000197948	ENSG00000197948			25463	protein-coding gene	gene with protein product						11214971, 15067381	Standard	NM_033449		Approved	FLJ00007	uc003llk.3	Q86WN1	OTTHUMG00000163762	ENST00000435817.2:c.163C>T	5.37:g.141029928G>A	ENSP00000399259:p.Gln55*					FCHSD1_ENST00000519800.1_Nonsense_Mutation_p.Q55*|FCHSD1_ENST00000522126.1_5'UTR|FCHSD1_ENST00000522783.1_Nonsense_Mutation_p.Q55*	p.Q55*	NM_033449.2	NP_258260.1	Q86WN1	FCSD1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		3	213	-			55			FCH.		Q6UX75|Q86Y77|Q9NXX8	Nonsense_Mutation	SNP	ENST00000435817.2	37	c.163C>T	CCDS47295.1	.	.	.	.	.	.	.	.	.	.	g	27.3	4.821740	0.90873	.	.	ENSG00000197948	ENST00000435817;ENST00000522783;ENST00000519800	.	.	.	4.21	4.21	0.49690	.	0.078682	0.50627	D	0.000106	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.48119	T	0.1	-16.4351	14.8591	0.70366	0.0:0.0:1.0:0.0	.	.	.	.	X	55	.	ENSP00000399259:Q55X	Q	-	1	0	FCHSD1	141010112	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.805000	0.75191	2.329000	0.79093	0.556000	0.70494	CAG		0.507	FCHSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375282.2	NM_033449		6	44	0	0	0	1	0	6	44					A	141029928	G	A	141029928	4	1	435	1	0	0	0	0	0	1	0	0	5789	1328	46	3	1981	3	FCHSD1	5	141029928	Nonsense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	163350	141029928	39885332	2890	23815											
ARAP3	64411	broad.mit.edu	37	chr5	141036142	141036142	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctcctggaagcggcttcccaGcaagcgaggtggctcctcac	7	7	12	15	2	1	0	1	0	0	0	4	2	4	1	3	4	3	3	3	4	2	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:141036142G>A	ENST00000239440.4	-	27	3783	c.3718C>T	c.(3718-3720)Ctg>Ttg	p.L1240L	ARAP3_ENST00000512390.1_5'UTR|ARAP3_ENST00000508305.1_Silent_p.L1071L|ARAP3_ENST00000513878.1_Silent_p.L902L	NM_022481.5	NP_071926.4	Q8WWN8	ARAP3_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3	1240	PH 3. {ECO:0000255|PROSITE- ProRule:PRU00145}.				cytoskeleton organization (GO:0007010)|negative regulation of cell migration (GO:0030336)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Rho protein signal transduction (GO:0035024)|regulation of ARF GTPase activity (GO:0032312)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|Rho GTPase activator activity (GO:0005100)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)	53						CGGCTTCCCAGCAAGCGAGGT	0.627																																						ENST00000239440.4																			0				NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)	53						c.(3718-3720)Ctg>Ttg		ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3							23	24	24					5																	141036142		2202	4300	6502	SO:0001819	synonymous_variant	64411				cytoskeleton organization|negative regulation of cell migration|negative regulation of Rho protein signal transduction|regulation of ARF GTPase activity|regulation of cell shape|small GTPase mediated signal transduction|vesicle-mediated transport	cytoskeleton|cytosol|lamellipodium|plasma membrane|ruffle	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|Rho GTPase activator activity|zinc ion binding	g.chr5:141036142G>A	AJ310567	CCDS4266.1	5q31.3	2013-01-11	2008-09-22	2008-09-22	ENSG00000120318	ENSG00000120318		"ADP-ribosylation factor GTPase activating proteins", "Sterile alpha motif (SAM) domain containing", "Pleckstrin homology (PH) domain containing", "Ankyrin repeat domain containing"	24097	protein-coding gene	gene with protein product		606647	"centaurin, delta 3"	CENTD3		11804589, 12015138	Standard	XM_005268497		Approved	FLJ21065, DRAG1	uc003llm.3	Q8WWN8	OTTHUMG00000129610	ENST00000239440.4:c.3718C>T	5.37:g.141036142G>A						ARAP3_ENST00000508305.1_Silent_p.L1071L|ARAP3_ENST00000513878.1_Silent_p.L902L|ARAP3_ENST00000512390.1_5'UTR	p.L1240L	NM_022481.5	NP_071926.4	Q8WWN8	ARAP3_HUMAN			27	3783	-			1240			PH 3.		B4DIT1|D3DQE3	Silent	SNP	ENST00000239440.4	37	c.3718C>T	CCDS4266.1																																																																																				0.627	ARAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251805.1	NM_022481		4	5	0	0	0	1	0	4	5					A	141036142	G	A	141036142	2	1	435	1	0	0	0	0	0	0	0	1	840	962	34	3		3	ARAP3	5	141036142	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	6214	141036142	39879118	2891	23816											
ARAP3	64411	broad.mit.edu	37	chr5	141052155	141052155	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtgtgagcaggtcaaagcttCgactcttggtctcccggacg	7	10	13	11	3	3	1	1	1	2	0	5	3	3	2	1	3	2	2	1	3	1	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:141052155C>T	ENST00000239440.4	-	9	1414	c.1349G>A	c.(1348-1350)cGa>cAa	p.R450Q	ARAP3_ENST00000508305.1_Missense_Mutation_p.R372Q|ARAP3_ENST00000513878.1_Missense_Mutation_p.R112Q	NM_022481.5	NP_071926.4	Q8WWN8	ARAP3_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3	450	PH 2. {ECO:0000255|PROSITE- ProRule:PRU00145}.				cytoskeleton organization (GO:0007010)|negative regulation of cell migration (GO:0030336)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Rho protein signal transduction (GO:0035024)|regulation of ARF GTPase activity (GO:0032312)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|Rho GTPase activator activity (GO:0005100)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)	53						GTCAAAGCTTCGACTCTTGGT	0.637																																						ENST00000239440.4																			0				NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)	53						c.(1348-1350)cGa>cAa		ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3							44	43	43					5																	141052155		2203	4300	6503	SO:0001583	missense	64411				cytoskeleton organization|negative regulation of cell migration|negative regulation of Rho protein signal transduction|regulation of ARF GTPase activity|regulation of cell shape|small GTPase mediated signal transduction|vesicle-mediated transport	cytoskeleton|cytosol|lamellipodium|plasma membrane|ruffle	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|Rho GTPase activator activity|zinc ion binding	g.chr5:141052155C>T	AJ310567	CCDS4266.1	5q31.3	2013-01-11	2008-09-22	2008-09-22	ENSG00000120318	ENSG00000120318		"ADP-ribosylation factor GTPase activating proteins", "Sterile alpha motif (SAM) domain containing", "Pleckstrin homology (PH) domain containing", "Ankyrin repeat domain containing"	24097	protein-coding gene	gene with protein product		606647	"centaurin, delta 3"	CENTD3		11804589, 12015138	Standard	XM_005268497		Approved	FLJ21065, DRAG1	uc003llm.3	Q8WWN8	OTTHUMG00000129610	ENST00000239440.4:c.1349G>A	5.37:g.141052155C>T	ENSP00000239440:p.Arg450Gln					ARAP3_ENST00000508305.1_Missense_Mutation_p.R372Q|ARAP3_ENST00000513878.1_Missense_Mutation_p.R112Q	p.R450Q	NM_022481.5	NP_071926.4	Q8WWN8	ARAP3_HUMAN			9	1414	-			450			PH 2.		B4DIT1|D3DQE3	Missense_Mutation	SNP	ENST00000239440.4	37	c.1349G>A	CCDS4266.1	.	.	.	.	.	.	.	.	.	.	C	14.06	2.423338	0.43020	.	.	ENSG00000120318	ENST00000522690;ENST00000508305;ENST00000239440;ENST00000513878;ENST00000504448	T;T;T;T	0.16073	2.37;3.06;2.94;2.84	4.25	3.39	0.38822	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	0.190818	0.37577	N	0.002031	T	0.22666	0.0547	L	0.41824	1.3	0.25297	N	0.98932	P;D;D	0.71674	0.791;0.998;0.996	B;P;P	0.59115	0.195;0.852;0.644	T	0.05835	-1.0861	10	0.22706	T	0.39	.	8.6086	0.33789	0.0:0.8191:0.0:0.1809	.	112;372;450	B4DIT1;G5E9Y3;Q8WWN8	.;.;ARAP3_HUMAN	Q	369;372;450;112;450	ENSP00000421826:R372Q;ENSP00000239440:R450Q;ENSP00000421468:R112Q;ENSP00000421148:R450Q	ENSP00000239440:R450Q	R	-	2	0	ARAP3	141032339	0.989000	0.36119	1.000000	0.80357	0.776000	0.43924	1.939000	0.40213	0.997000	0.38969	-0.448000	0.05591	CGA		0.637	ARAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251805.1	NM_022481		10	13	0	0	0	1	0	10	13					T	141052155	C	T	141052155	3	4	435	1	0	0	0	0	1	0	0	0	840	884	31	2	3385	2	ARAP3	5	141052155	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	16013	141052155	39863105	2892	23817											
PCDH1	5097	broad.mit.edu	37	chr5	141248331	141248331	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gcgctcacggtccaggttgcCcatcacaatgagctgtggtt	7	10	12	12	2	2	1	2	1	0	0	3	1	3	1	2	3	2	4	2	3	1	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:141248331C>T	ENST00000394536.3	-	2	845	c.706G>A	c.(706-708)Ggc>Agc	p.G236S	PCDH1_ENST00000456271.1_Missense_Mutation_p.G224S|PCDH1_ENST00000536585.1_Missense_Mutation_p.G214S|PCDH1_ENST00000511044.1_5'Flank|PCDH1_ENST00000287008.3_Missense_Mutation_p.G236S|PCDH1_ENST00000503492.1_Missense_Mutation_p.G236S	NM_001278613.1|NM_001278615.1	NP_001265542.1|NP_001265544.1	Q08174	PCDH1_HUMAN	protocadherin 1	236	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell-cell signaling (GO:0007267)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	cell-cell junction (GO:0005911)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(20)|ovary(5)|skin(3)|upper_aerodigestive_tract(1)	51		Lung NSC(810;0.027)|all_lung(500;0.0321)|all_hematologic(541;0.0433)|Prostate(461;0.0453)|Breast(839;0.128)|Lung SC(612;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;1.06e-05)		TCCAGGTTGCCCATCACAATG	0.637																																					Ovarian(132;1609 1739 4190 14731 45037)	ENST00000287008.3																			0				breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(20)|ovary(5)|skin(3)|upper_aerodigestive_tract(1)	51						c.(706-708)Ggc>Agc		protocadherin 1							97	87	90					5																	141248331		2203	4300	6503	SO:0001583	missense	5097				cell-cell signaling|homophilic cell adhesion|nervous system development	cell-cell junction|integral to plasma membrane	calcium ion binding	g.chr5:141248331C>T	AK075233	CCDS4267.1, CCDS43375.1	5q31.3	2010-01-26	2007-02-12		ENSG00000156453	ENSG00000156453		"Cadherins / Protocadherins : Non-clustered"	8655	protein-coding gene	gene with protein product		603626	"protocadherin 1 (cadherin-like 1)"			8508762	Standard	NM_032420		Approved	pc42	uc003llp.3	Q08174	OTTHUMG00000129661	ENST00000394536.3:c.706G>A	5.37:g.141248331C>T	ENSP00000378043:p.Gly236Ser					PCDH1_ENST00000536585.1_Missense_Mutation_p.G214S|PCDH1_ENST00000394536.3_Missense_Mutation_p.G236S|PCDH1_ENST00000503492.1_Missense_Mutation_p.G236S|PCDH1_ENST00000456271.1_Missense_Mutation_p.G224S	p.G236S	NM_032420.2	NP_115796.2	Q08174	PCDH1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;1.06e-05)	2	853	-		Lung NSC(810;0.027)|all_lung(500;0.0321)|all_hematologic(541;0.0433)|Prostate(461;0.0453)|Breast(839;0.128)|Lung SC(612;0.238)	236			Cadherin 2.		Q8IUP2	Missense_Mutation	SNP	ENST00000394536.3	37	c.706G>A	CCDS43375.1	.	.	.	.	.	.	.	.	.	.	c	22.5	4.300772	0.81136	.	.	ENSG00000156453	ENST00000503492;ENST00000287008;ENST00000394536;ENST00000456271;ENST00000357517;ENST00000536585	T;T;T;T;T;T	0.50813	0.73;0.73;0.73;0.73;0.73;0.73	4.47	4.47	0.54385	Cadherin (4);Cadherin-like (1);	0.000000	0.52532	D	0.000070	T	0.63260	0.2496	L	0.54965	1.715	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.992	T	0.63616	-0.6597	10	0.49607	T	0.09	.	15.0446	0.71816	0.0:1.0:0.0:0.0	.	236;236	Q08174;Q08174-2	PCDH1_HUMAN;.	S	236;236;236;224;247;214	ENSP00000424667:G236S;ENSP00000287008:G236S;ENSP00000378043:G236S;ENSP00000403497:G224S;ENSP00000350122:G247S;ENSP00000438825:G214S	ENSP00000287008:G236S	G	-	1	0	PCDH1	141228515	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	2.531000	0.45650	2.486000	0.83907	0.550000	0.68814	GGC		0.637	PCDH1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000251862.1	NM_032420		19	15	0	0	0	1	0	19	15					T	141248331	C	T	141248331	3	4	435	1	0	0	0	0	1	0	0	0	11506	623	22	3	3107	3	PCDH1	5	141248331	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	196176	141248331	39666929	2893	23818											
KIAA0141	9812	broad.mit.edu	37	chr5	141316895	141316895	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aggccgcccaggagaggctgCgagccctcttttccatgggg	6	7	15	13	2	1	1	0	0	1	1	2	3	2	1	4	5	2	1	4	5	0	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:141316895C>T	ENST00000432126.2	+	11	1416	c.1282C>T	c.(1282-1284)Cga>Tga	p.R428*	KIAA0141_ENST00000194118.4_Nonsense_Mutation_p.R428*	NM_001142603.1|NM_014773.3	NP_001136075.1|NP_055588.3	Q14154	DELE_HUMAN	KIAA0141	428					extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)	mitochondrion (GO:0005739)				endometrium(3)|large_intestine(4)|lung(5)|skin(1)|urinary_tract(3)	16		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGAGAGGCTGCGAGCCCTCTT	0.557																																						ENST00000432126.2																			0				endometrium(3)|large_intestine(4)|lung(5)|skin(1)|urinary_tract(3)	16						c.(1282-1284)Cga>Tga		KIAA0141							70	76	74					5																	141316895		2203	4300	6503	SO:0001587	stop_gained	9812				apoptosis|regulation of caspase activity	mitochondrion	protein binding	g.chr5:141316895C>T	BC011269	CCDS4268.1	5q31	2011-05-05			ENSG00000081791	ENSG00000081791			28969	protein-coding gene	gene with protein product	"death ligand signal enhancer"	615741				20563667	Standard	XM_005268549		Approved	DELE	uc003llt.3	Q14154	OTTHUMG00000129662	ENST00000432126.2:c.1282C>T	5.37:g.141316895C>T	ENSP00000396225:p.Arg428*					KIAA0141_ENST00000194118.4_Nonsense_Mutation_p.R428*	p.R428*	NM_001142603.1|NM_014773.3	NP_001136075.1|NP_055588.3	Q14154	DELE_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		11	1416	+		all_hematologic(541;0.118)	428					Q969R4|Q96EU9	Nonsense_Mutation	SNP	ENST00000432126.2	37	c.1282C>T	CCDS4268.1	.	.	.	.	.	.	.	.	.	.	C	13.07	2.127896	0.37533	.	.	ENSG00000081791	ENST00000432126;ENST00000194118	.	.	.	5.6	3.62	0.41486	.	0.652548	0.16134	N	0.228070	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.30854	T	0.27	-7.1751	10.1312	0.42680	0.4428:0.5572:0.0:0.0	.	.	.	.	X	428	.	ENSP00000194118:R428X	R	+	1	2	KIAA0141	141297079	0.961000	0.32948	0.413000	0.26509	0.014000	0.08584	2.136000	0.42121	1.357000	0.45904	-0.181000	0.13052	CGA		0.557	KIAA0141-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251863.2	NM_014773		27	40	0	0	0	1	0	27	40					T	141316895	C	T	141316895	4	4	435	1	0	0	0	0	0	1	0	0	8156	760	27	1	1324	1	KIAA0141	5	141316895	Nonsense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	68564	141316895	39598365	2894	23819											
RNF14	9604	broad.mit.edu	37	chr5	141359810	141359810	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgctgccagctgcctgtgatGcaggaacctggctgcaccat	7	9	12	13	0	0	1	0	1	0	0	0	2	0	2	4	2	7	5	4	2	1	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:141359810G>A	ENST00000394520.2	+	6	1266	c.957G>A	c.(955-957)atG>atA	p.M319I	RNF14_ENST00000394515.3_Missense_Mutation_p.M143I|RNF14_ENST00000356143.1_Missense_Mutation_p.M319I|RNF14_ENST00000540015.1_Intron|RNF14_ENST00000394514.2_Missense_Mutation_p.M193I|RNF14_ENST00000347642.3_Missense_Mutation_p.M319I|AC005740.5_ENST00000520882.1_RNA|RNF14_ENST00000394519.1_Missense_Mutation_p.M319I	NM_001201365.1|NM_004290.4	NP_001188294.1|NP_004281.1	Q9UBS8	RNF14_HUMAN	ring finger protein 14	319					androgen receptor signaling pathway (GO:0030521)|positive regulation of transcription, DNA-templated (GO:0045893)|protein ubiquitination (GO:0016567)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|response to estradiol (GO:0032355)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|small conjugating protein ligase activity (GO:0019787)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15		all_hematologic(541;0.0536)|Ovarian(839;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;0.0407)		TGCCTGTGATGCAGGAACCTG	0.562																																						ENST00000394520.2																			0				cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15						c.(955-957)atG>atA		ring finger protein 14							106	92	97					5																	141359810		2203	4300	6503	SO:0001583	missense	9604				androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|protein ubiquitination|regulation of androgen receptor signaling pathway|regulation of transcription from RNA polymerase II promoter|response to estradiol stimulus|transcription, DNA-dependent	cytoplasm|nucleus	androgen receptor binding|small conjugating protein ligase activity|transcription coactivator activity|zinc ion binding	g.chr5:141359810G>A	AF060544	CCDS4270.1, CCDS4271.1	5q23.3-q31.1	2008-02-05			ENSG00000013561	ENSG00000013561		"RING-type (C3HC4) zinc fingers"	10058	protein-coding gene	gene with protein product		605675				10085091, 10320776	Standard	NM_183399		Approved	ARA54, HFB30, TRIAD2	uc003lmc.3	Q9UBS8	OTTHUMG00000129660	ENST00000394520.2:c.957G>A	5.37:g.141359810G>A	ENSP00000378028:p.Met319Ile					RNF14_ENST00000394514.2_Missense_Mutation_p.M193I|RNF14_ENST00000394519.1_Missense_Mutation_p.M319I|RNF14_ENST00000347642.3_Missense_Mutation_p.M319I|RNF14_ENST00000540015.1_Intron|AC005740.5_ENST00000520882.1_RNA|RNF14_ENST00000356143.1_Missense_Mutation_p.M319I|RNF14_ENST00000394515.3_Missense_Mutation_p.M143I	p.M319I	NM_001201365.1|NM_004290.4	NP_001188294.1|NP_004281.1	Q9UBS8	RNF14_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;0.0407)	6	1266	+		all_hematologic(541;0.0536)|Ovarian(839;0.118)	319					A0AV26|A6NMR2|A8MTW5|B3KN72|B7ZLV2|D3DQE4|O94793|Q6IBV0	Missense_Mutation	SNP	ENST00000394520.2	37	c.957G>A	CCDS4270.1	.	.	.	.	.	.	.	.	.	.	G	19.03	3.748813	0.69533	.	.	ENSG00000013561	ENST00000356143;ENST00000394520;ENST00000347642;ENST00000394514;ENST00000394515;ENST00000394519	T;T;T;T;T;T	0.61510	0.1;0.1;0.1;0.1;0.1;0.1	4.99	4.99	0.66335	Zinc finger, C6HC-type (2);	0.000000	0.85682	D	0.000000	T	0.50137	0.1598	L	0.35854	1.095	0.80722	D	1	B;B	0.20988	0.05;0.008	B;B	0.24701	0.055;0.027	T	0.42207	-0.9465	10	0.18710	T	0.47	.	18.6532	0.91439	0.0:0.0:1.0:0.0	.	143;319	B7Z229;Q9UBS8	.;RNF14_HUMAN	I	319;319;319;193;143;319	ENSP00000348462:M319I;ENSP00000378028:M319I;ENSP00000324956:M319I;ENSP00000378022:M193I;ENSP00000378023:M143I;ENSP00000378027:M319I	ENSP00000324956:M319I	M	+	3	0	RNF14	141339994	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.618000	0.74214	2.480000	0.83734	0.650000	0.86243	ATG		0.562	RNF14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251860.2	NM_004290		37	65	0	0	0	1	0	37	65					A	141359810	G	A	141359810	3	1	435	1	0	0	0	0	1	0	0	0	13443	1319	46	3	971	3	RNF14	5	141359810	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	42915	141359810	39555450	2895	23820											
RNF14	9604	broad.mit.edu	37	chr5	141364434	141364434	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	atttctgttggatttgcatgGgttctctctctagagcaaac	8	16	9	8	0	3	1	0	0	3	1	5	2	3	2	0	2	3	4	0	2	2	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:141364434G>A	ENST00000394520.2	+	8	1612	c.1303G>A	c.(1303-1305)Ggt>Agt	p.G435S	RNF14_ENST00000394515.3_Missense_Mutation_p.G259S|RNF14_ENST00000356143.1_Missense_Mutation_p.G435S|RNF14_ENST00000540015.1_Missense_Mutation_p.G132S|RNF14_ENST00000394514.2_Missense_Mutation_p.G309S|RNF14_ENST00000347642.3_Missense_Mutation_p.G435S|AC005740.5_ENST00000520882.1_RNA|RNF14_ENST00000394519.1_Missense_Mutation_p.G435S	NM_001201365.1|NM_004290.4	NP_001188294.1|NP_004281.1	Q9UBS8	RNF14_HUMAN	ring finger protein 14	435	Interaction with androgen receptor.				androgen receptor signaling pathway (GO:0030521)|positive regulation of transcription, DNA-templated (GO:0045893)|protein ubiquitination (GO:0016567)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|response to estradiol (GO:0032355)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|small conjugating protein ligase activity (GO:0019787)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15		all_hematologic(541;0.0536)|Ovarian(839;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;0.0407)		GATTTGCATGGGTTCTCTCTC	0.403																																						ENST00000394520.2																			0				cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15						c.(1303-1305)Ggt>Agt		ring finger protein 14							135	124	128					5																	141364434		2203	4300	6503	SO:0001583	missense	9604				androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|protein ubiquitination|regulation of androgen receptor signaling pathway|regulation of transcription from RNA polymerase II promoter|response to estradiol stimulus|transcription, DNA-dependent	cytoplasm|nucleus	androgen receptor binding|small conjugating protein ligase activity|transcription coactivator activity|zinc ion binding	g.chr5:141364434G>A	AF060544	CCDS4270.1, CCDS4271.1	5q23.3-q31.1	2008-02-05			ENSG00000013561	ENSG00000013561		"RING-type (C3HC4) zinc fingers"	10058	protein-coding gene	gene with protein product		605675				10085091, 10320776	Standard	NM_183399		Approved	ARA54, HFB30, TRIAD2	uc003lmc.3	Q9UBS8	OTTHUMG00000129660	ENST00000394520.2:c.1303G>A	5.37:g.141364434G>A	ENSP00000378028:p.Gly435Ser					RNF14_ENST00000394514.2_Missense_Mutation_p.G309S|RNF14_ENST00000394519.1_Missense_Mutation_p.G435S|RNF14_ENST00000347642.3_Missense_Mutation_p.G435S|RNF14_ENST00000540015.1_Missense_Mutation_p.G132S|RNF14_ENST00000356143.1_Missense_Mutation_p.G435S|RNF14_ENST00000394515.3_Missense_Mutation_p.G259S	p.G435S	NM_001201365.1|NM_004290.4	NP_001188294.1|NP_004281.1	Q9UBS8	RNF14_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;0.0407)	8	1612	+		all_hematologic(541;0.0536)|Ovarian(839;0.118)	435			Interaction with androgen receptor.		A0AV26|A6NMR2|A8MTW5|B3KN72|B7ZLV2|D3DQE4|O94793|Q6IBV0	Missense_Mutation	SNP	ENST00000394520.2	37	c.1303G>A	CCDS4270.1	.	.	.	.	.	.	.	.	.	.	G	14.44	2.536039	0.45176	.	.	ENSG00000013561	ENST00000356143;ENST00000394520;ENST00000347642;ENST00000540015;ENST00000394514;ENST00000512565;ENST00000394515;ENST00000394519	T;T;T;T;T;T;T;T	0.80304	-1.36;-1.36;-1.36;-1.36;-1.36;-1.36;-1.36;-1.36	5.4	3.61	0.41365	Zinc finger, C6HC-type (2);	0.142087	0.64402	N	0.000005	T	0.70176	0.3194	L	0.38953	1.18	0.58432	D	0.999999	B;B;B	0.22683	0.027;0.073;0.005	B;B;B	0.24701	0.055;0.03;0.012	T	0.59794	-0.7387	10	0.18276	T	0.48	.	11.0767	0.48036	0.07:0.1292:0.8008:0.0	.	132;259;435	B7Z3J5;B7Z229;Q9UBS8	.;.;RNF14_HUMAN	S	435;435;435;132;309;132;259;435	ENSP00000348462:G435S;ENSP00000378028:G435S;ENSP00000324956:G435S;ENSP00000442490:G132S;ENSP00000378022:G309S;ENSP00000426832:G132S;ENSP00000378023:G259S;ENSP00000378027:G435S	ENSP00000324956:G435S	G	+	1	0	RNF14	141344618	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.710000	0.61873	0.644000	0.30656	0.484000	0.47621	GGT		0.403	RNF14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251860.2	NM_004290		34	69	0	0	0	1	0	34	69					A	141364434	G	A	141364434	3	1	435	1	0	0	0	0	1	0	0	0	13443	1232	43	3	1325	3	RNF14	5	141364434	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	4624	141364434	39550826	2896	23821											
GNPDA1	10007	broad.mit.edu	37	chr5	141384537	141384537	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgcccacccccaccgtcaagGccatggtgggcaccttggtg	6	7	12	16	1	1	0	1	0	0	0	1	0	1	0	6	4	1	1	6	4	1	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:141384537G>A	ENST00000508177.1	-	4	1312	c.554C>T	c.(553-555)gCc>gTc	p.A185V	GNPDA1_ENST00000542860.1_Missense_Mutation_p.A108V|GNPDA1_ENST00000500692.2_Missense_Mutation_p.A185V|GNPDA1_ENST00000458112.2_Missense_Mutation_p.A151V|GNPDA1_ENST00000513454.1_Missense_Mutation_p.A185V|GNPDA1_ENST00000311337.6_Missense_Mutation_p.A185V|GNPDA1_ENST00000503794.1_Missense_Mutation_p.A185V			P46926	GNPI1_HUMAN	glucosamine-6-phosphate deaminase 1	185					carbohydrate metabolic process (GO:0005975)|generation of precursor metabolites and energy (GO:0006091)|glucosamine catabolic process (GO:0006043)|N-acetylglucosamine metabolic process (GO:0006044)|single fertilization (GO:0007338)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	glucosamine-6-phosphate deaminase activity (GO:0004342)|hydrolase activity (GO:0016787)			central_nervous_system(1)|lung(1)|skin(3)|stomach(1)	6		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CACCGTCAAGGCCATGGTGGG	0.562																																						ENST00000508177.1																			0				central_nervous_system(1)|lung(1)|skin(3)|stomach(1)	6						c.(553-555)gCc>gTc		glucosamine-6-phosphate deaminase 1							43	39	40					5																	141384537		2203	4300	6503	SO:0001583	missense	10007				generation of precursor metabolites and energy|glucosamine catabolic process|N-acetylglucosamine metabolic process|single fertilization	cytoplasm	glucosamine-6-phosphate deaminase activity|hydrolase activity	g.chr5:141384537G>A	AF048826	CCDS4272.1	5q21	2008-02-05	2003-10-17	2003-10-22	ENSG00000113552	ENSG00000113552	3.5.99.6		4417	protein-coding gene	gene with protein product	"glucosamine-6-phosphate deaminase", "oscillin"	601798	"glucosamine-6-phosphate isomerase"	GNPI		9714720, 9438414	Standard	NM_005471		Approved	GNPDA, HLN, GPI, KIAA0060	uc010jgh.3	P46926	OTTHUMG00000129657	ENST00000508177.1:c.554C>T	5.37:g.141384537G>A	ENSP00000423674:p.Ala185Val					GNPDA1_ENST00000513454.1_Missense_Mutation_p.A185V|GNPDA1_ENST00000503794.1_Missense_Mutation_p.A185V|GNPDA1_ENST00000500692.2_Missense_Mutation_p.A185V|GNPDA1_ENST00000542860.1_Missense_Mutation_p.A108V|GNPDA1_ENST00000311337.6_Missense_Mutation_p.A185V|GNPDA1_ENST00000458112.2_Missense_Mutation_p.A151V	p.A185V			P46926	GNPI1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		4	1312	-		all_hematologic(541;0.118)	185					B7Z3X4|D3DQE7	Missense_Mutation	SNP	ENST00000508177.1	37	c.554C>T	CCDS4272.1	.	.	.	.	.	.	.	.	.	.	G	36	5.600091	0.96614	.	.	ENSG00000113552	ENST00000513454;ENST00000311337;ENST00000458112;ENST00000500692;ENST00000508177;ENST00000503794;ENST00000542860;ENST00000505689	T;T;T;T;T;T;T;T	0.56776	0.95;0.95;0.95;0.95;0.95;0.95;0.44;0.95	5.84	5.84	0.93424	Glucosamine/galactosamine-6-phosphate isomerase (1);	0.000000	0.85682	D	0.000000	T	0.76321	0.3971	M	0.83692	2.655	0.80722	D	1	D;D	0.71674	0.998;0.993	D;P	0.71414	0.973;0.9	T	0.78588	-0.2146	10	0.87932	D	0	-23.1858	20.1187	0.97949	0.0:0.0:1.0:0.0	.	151;185	E7EVU7;P46926	.;GNPI1_HUMAN	V	185;185;151;185;185;185;108;206	ENSP00000423494:A185V;ENSP00000311876:A185V;ENSP00000387718:A151V;ENSP00000424275:A185V;ENSP00000423674:A185V;ENSP00000423485:A185V;ENSP00000445143:A108V;ENSP00000421524:A206V	ENSP00000311876:A185V	A	-	2	0	GNPDA1	141364721	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.476000	0.97823	2.767000	0.95098	0.591000	0.81541	GCC		0.562	GNPDA1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370631.1	NM_005471		8	2	0	0	0	1	0	8	2					A	141384537	G	A	141384537	3	1	435	1	0	0	0	0	1	0	0	0	6542	1203	42	3	327	3	GNPDA1	5	141384537	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	20103	141384537	39530723	2897	23822											
SPRY4	81848	broad.mit.edu	37	chr5	141694197	141694197	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttacacttcccacaggcctcGcacagcaagaagtgcttgtc	10	9	8	14	1	0	1	0	0	0	1	3	1	1	1	2	1	3	3	2	1	3	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:141694197G>A	ENST00000434127.2	-	2	720	c.477C>T	c.(475-477)tgC>tgT	p.C159C	SPRY4_ENST00000503582.1_5'Flank|SPRY4_ENST00000344120.4_Silent_p.C182C	NM_001127496.1	NP_001120968.1	Q9C004	SPY4_HUMAN	sprouty homolog 4 (Drosophila)	159	Cys-rich.				multicellular organismal development (GO:0007275)|negative regulation of MAP kinase activity (GO:0043407)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(7)|ovary(1)	18		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CACAGGCCTCGCACAGCAAGA	0.642									Testicular Cancer, Familial Clustering of																													ENST00000344120.4																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(7)|ovary(1)	18						c.(544-546)tgC>tgT		sprouty homolog 4 (Drosophila)							60	64	62					5																	141694197		2203	4300	6503	SO:0001819	synonymous_variant	81848	Testicular Cancer, Familial Clustering of	Familial Cancer Database		multicellular organismal development	cytoplasm|ruffle membrane	protein binding	g.chr5:141694197G>A	AF227516	CCDS4274.1, CCDS47296.1	5q31.3	2010-08-05			ENSG00000187678	ENSG00000187678			15533	protein-coding gene	gene with protein product		607984				16465403	Standard	NM_030964		Approved		uc010jgi.1	Q9C004	OTTHUMG00000129663	ENST00000434127.2:c.477C>T	5.37:g.141694197G>A						SPRY4_ENST00000434127.2_Silent_p.C159C	p.C182C	NM_030964.3	NP_112226.2	Q9C004	SPY4_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		3	732	-		all_hematologic(541;0.118)	159			Cys-rich.|SPR.		A4FVB2|A4FVB3|Q6QIX2|Q9C003	Silent	SNP	ENST00000434127.2	37	c.546C>T	CCDS47296.1																																																																																				0.642	SPRY4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370652.1			11	41	0	0	0	1	0	11	41					A	141694197	G	A	141694197	2	1	435	1	0	0	0	0	0	0	0	1	15107	1079	38	1		1	SPRY4	5	141694197	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	309660	141694197	39221063	2898	23823											
ARHGAP26	23092	broad.mit.edu	37	chr5	142311642	142311642	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atcaccatgcaagctttgtcGgaagaggaccggaggctctg	10	8	13	10	2	2	1	1	0	1	1	3	4	2	4	2	4	2	3	2	4	2	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:142311642G>A	ENST00000274498.4	+	11	1437	c.1059G>A	c.(1057-1059)tcG>tcA	p.S353S	ARHGAP26_ENST00000378004.3_Silent_p.S353S	NM_015071.4	NP_055886.1	Q9UNA1	RHG26_HUMAN	Rho GTPase activating protein 26	353	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				actin cytoskeleton organization (GO:0030036)|filopodium assembly (GO:0046847)|nervous system development (GO:0007399)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell junction (GO:0030054)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)	phospholipid binding (GO:0005543)|Rho GTPase activator activity (GO:0005100)			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(7)|ovary(1)	25		all_hematologic(541;0.0416)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AAGCTTTGTCGGAAGAGGACC	0.502																																						ENST00000378004.3																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(7)|ovary(1)	25						c.(1057-1059)tcG>tcA		Rho GTPase activating protein 26							120	118	119					5																	142311642		2203	4300	6503	SO:0001819	synonymous_variant	23092				actin cytoskeleton organization|filopodium assembly|nervous system development|small GTPase mediated signal transduction	cytoskeleton|cytosol|focal adhesion	cytoskeletal adaptor activity|Rho GTPase activator activity|SH3 domain binding	g.chr5:142311642G>A	AB014521	CCDS4277.1, CCDS47297.1	5q31	2011-06-29			ENSG00000145819	ENSG00000145819		"Rho GTPase activating proteins"	17073	protein-coding gene	gene with protein product	"GTPase regulator associated with the focal adhesion kinase pp125"	605370				9858476, 8649427	Standard	NM_001135608		Approved	GRAF, KIAA0621, OPHN1L, OPHN1L1	uc011dbj.2	Q9UNA1	OTTHUMG00000059705	ENST00000274498.4:c.1059G>A	5.37:g.142311642G>A						ARHGAP26_ENST00000274498.4_Silent_p.S353S	p.S353S	NM_001135608.1	NP_001129080.1	Q9UNA1	RHG26_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		11	1414	+		all_hematologic(541;0.0416)	353			PH.		O75117|Q5D035|Q9BYS6|Q9BYS7|Q9UJ00	Silent	SNP	ENST00000274498.4	37	c.1059G>A	CCDS4277.1																																																																																				0.502	ARHGAP26-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000132744.3	NM_015071		19	36	0	0	0	1	0	19	36					A	142311642	G	A	142311642	2	1	435	1	0	0	0	0	0	0	0	1	875	1103	39	2		2	ARHGAP26	5	142311642	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	617445	142311642	38603618	2899	23824											
LARS	51520	broad.mit.edu	37	chr5	145533300	145533300	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gaaactcagatacttacttgCtttttcttcaagtctctgag	10	16	6	9	0	4	2	2	1	2	1	5	3	4	2	0	0	4	1	0	0	4	6			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:145533300C>A	ENST00000394434.2	-	12	1393	c.1227G>T	c.(1225-1227)aaG>aaT	p.K409N	LARS_ENST00000274562.9_Missense_Mutation_p.K382N|LARS_ENST00000545646.1_Missense_Mutation_p.K363N|LARS_ENST00000510191.1_Missense_Mutation_p.K355N	NM_020117.9	NP_064502.9	Q9P2J5	SYLC_HUMAN	leucyl-tRNA synthetase	409	Editing domain.				gene expression (GO:0010467)|leucyl-tRNA aminoacylation (GO:0006429)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|leucine-tRNA ligase activity (GO:0004823)			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)|skin(2)|stomach(8)	34			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		L-Leucine(DB00149)	TACTTACTTGCTTTTTCTTCA	0.428																																						ENST00000394434.2																			0				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)|skin(2)|stomach(8)	34						c.(1225-1227)aaG>aaT		leucyl-tRNA synthetase	L-Leucine(DB00149)						133	123	126					5																	145533300		2203	4300	6503	SO:0001583	missense	51520				leucyl-tRNA aminoacylation	cytosol	ATP binding|leucine-tRNA ligase activity|protein binding	g.chr5:145533300C>A	AF151026	CCDS34265.1	5q32	2012-10-02			ENSG00000133706	ENSG00000133706	6.1.1.4	"Aminoacyl tRNA synthetases / Class I"	6512	protein-coding gene	gene with protein product	"leucine tRNA ligase 1, cytoplasmic"	151350				6933703	Standard	NM_020117		Approved	HSPC192, FLJ10595, FLJ21788, LARS1, LEUS, RNTLS	uc003lnx.1	Q9P2J5	OTTHUMG00000163429	ENST00000394434.2:c.1227G>T	5.37:g.145533300C>A	ENSP00000377954:p.Lys409Asn					LARS_ENST00000510191.1_Missense_Mutation_p.K355N|LARS_ENST00000274562.9_Missense_Mutation_p.K382N|LARS_ENST00000545646.1_Missense_Mutation_p.K363N	p.K409N	NM_020117.9	NP_064502.9	Q9P2J5	SYLC_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		12	1393	-			409			Editing domain.		A2RRR4|A7E266|B4DJ10|Q2TU79|Q9NSE1	Missense_Mutation	SNP	ENST00000394434.2	37	c.1227G>T	CCDS34265.1	.	.	.	.	.	.	.	.	.	.	C	19.40	3.819469	0.71028	.	.	ENSG00000133706	ENST00000394434;ENST00000545646;ENST00000510191;ENST00000274562	T;T;T;T	0.35421	1.31;1.31;1.31;1.31	5.72	1.36	0.22044	Valyl/Leucyl/Isoleucyl-tRNA synthetase, class Ia, editing domain (2);Aminoacyl-tRNA synthetase, class Ia (1);	0.000000	0.85682	D	0.000000	T	0.45816	0.1361	M	0.79475	2.455	0.80722	D	1	D;D;D	0.67145	0.963;0.996;0.969	P;P;P	0.52710	0.622;0.707;0.62	T	0.41610	-0.9499	10	0.41790	T	0.15	-11.7887	8.5797	0.33621	0.0:0.4847:0.0:0.5153	.	382;363;409	B4DER1;F5H698;Q9P2J5	.;.;SYLC_HUMAN	N	409;363;355;382	ENSP00000377954:K409N;ENSP00000437791:K363N;ENSP00000426005:K355N;ENSP00000274562:K382N	ENSP00000274562:K382N	K	-	3	2	LARS	145513493	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	1.626000	0.37039	0.430000	0.26230	-0.142000	0.14014	AAG		0.428	LARS-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000373367.1	NM_020117		11	23	1	0	5.16669e-11	1	5.54509e-11	11	23					A	145533300	C	A	145533300	3	1	435	1	0	0	0	0	1	0	0	0	8634	796	28	5	2387	5	LARS	5	145533300	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	3221658	145533300	35381960	2900	23825											
TCERG1	10915	broad.mit.edu	37	chr5	145834753	145834753	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctcctccaccaccacggcCgccctttggacgtcctcctt	4	9	6	22	3	0	0	0	0	0	0	4	1	4	1	9	2	0	0	9	2	0	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:145834753C>T	ENST00000296702.5	+	2	232	c.194C>T	c.(193-195)cCg>cTg	p.P65L	TCERG1_ENST00000394421.2_Missense_Mutation_p.P65L	NM_006706.3	NP_006697.2	O14776	TCRG1_HUMAN	transcription elongation regulator 1	65	Pro-rich.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA polymerase II repressing transcription factor binding (GO:0001103)|RNA polymerase II transcription corepressor activity (GO:0001106)|transcription coactivator activity (GO:0003713)			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(18)|lung(9)|ovary(2)|prostate(3)|skin(1)	46		Lung NSC(249;0.00188)|all_lung(500;0.00307)|all_neural(839;0.0424)|Breast(839;0.0743)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CCACCACGGCCGCCCTTTGGA	0.597																																						ENST00000296702.5																			0				breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(18)|lung(9)|ovary(2)|prostate(3)|skin(1)	46						c.(193-195)cCg>cTg		transcription elongation regulator 1							121	123	122					5																	145834753		2203	4300	6503	SO:0001583	missense	10915				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	protein binding|transcription coactivator activity	g.chr5:145834753C>T	AF017789	CCDS4282.1, CCDS43379.1	5q31	2010-01-25	2002-01-24	2002-01-25	ENSG00000113649	ENSG00000113649			15630	protein-coding gene	gene with protein product	"transcription factor CA150", "co-activator of 150 kDa", "TATA box binding protein (TBP)-associated factor, RNA polymerase II, S, 150kD", "TATA box-binding protein-associated factor 2S"	605409	"TATA box binding protein (TBP)-associated factor, RNA polymerase II, S, 150kD"	TAF2S		9315662, 11003711	Standard	XM_005268365		Approved	CA150, Urn1	uc003lob.3	O14776	OTTHUMG00000129683	ENST00000296702.5:c.194C>T	5.37:g.145834753C>T	ENSP00000296702:p.Pro65Leu					TCERG1_ENST00000394421.2_Missense_Mutation_p.P65L	p.P65L	NM_006706.3	NP_006697.2	O14776	TCRG1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		2	232	+		Lung NSC(249;0.00188)|all_lung(500;0.00307)|all_neural(839;0.0424)|Breast(839;0.0743)	65			Pro-rich.		Q2NKN2|Q59EA1	Missense_Mutation	SNP	ENST00000296702.5	37	c.194C>T	CCDS4282.1	.	.	.	.	.	.	.	.	.	.	C	18.95	3.732604	0.69189	.	.	ENSG00000113649	ENST00000296702;ENST00000394421	T;T	0.28895	1.59;1.61	5.4	5.4	0.78164	.	0.050510	0.85682	D	0.000000	T	0.45677	0.1354	L	0.27053	0.805	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.997;0.992;0.982	T	0.43228	-0.9404	10	0.72032	D	0.01	-4.6859	18.979	0.92748	0.0:1.0:0.0:0.0	.	65;65;65	B7Z921;O14776-2;O14776	.;.;TCRG1_HUMAN	L	65	ENSP00000296702:P65L;ENSP00000377943:P65L	ENSP00000296702:P65L	P	+	2	0	TCERG1	145814946	1.000000	0.71417	1.000000	0.80357	0.699000	0.40488	7.214000	0.77958	2.814000	0.96858	0.563000	0.77884	CCG		0.597	TCERG1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251886.1	NM_001040006		41	45	0	0	0	1	0	41	45					T	145834753	C	T	145834753	3	4	435	1	0	0	0	0	1	0	0	0	15682	652	23	2	200	2	TCERG1	5	145834753	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	301453	145834753	35080507	2901	23826											
SPINK14	408187	broad.mit.edu	37	chr5	147553880	147553880	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggcttatatcaacccatctgCggcaccaattttataaccta	12	12	5	12	1	2	0	1	0	1	0	2	0	2	0	3	2	3	2	3	2	7	6	rs377765720		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:147553880C>T	ENST00000356972.1	+	3	195	c.195C>T	c.(193-195)tgC>tgT	p.C65C	SPINK14_ENST00000562793.1_Intron	NM_001001325.1	NP_001001325.1	Q6IE38	ISK14_HUMAN	serine peptidase inhibitor, Kazal type 14 (putative)	65	Kazal-like. {ECO:0000255|PROSITE- ProRule:PRU00798}.					extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|large_intestine(1)|lung(1)	3						AACCCATCTGCGGCACCAATT	0.423																																						ENST00000356972.1																			0				breast(1)|large_intestine(1)|lung(1)	3						c.(193-195)tgC>tgT		serine peptidase inhibitor, Kazal type 14 (putative)							114	114	114					5																	147553880		1499	3118	4617	SO:0001819	synonymous_variant	408187					extracellular region	serine-type endopeptidase inhibitor activity	g.chr5:147553880C>T		CCDS4288.1	5q32	2011-08-31			ENSG00000196800	ENSG00000196800		"Serine peptidase inhibitors, Kazal type"	33825	protein-coding gene	gene with protein product							Standard	NM_001001325		Approved	SPINK5L2	uc031sls.1	Q6IE38	OTTHUMG00000129732	ENST00000356972.1:c.195C>T	5.37:g.147553880C>T						SPINK14_ENST00000562793.1_Intron	p.C65C	NM_001001325.1	NP_001001325.1	Q6IE38	ISK14_HUMAN			3	195	+			65			Kazal-like.			Silent	SNP	ENST00000356972.1	37	c.195C>T	CCDS4288.1																																																																																				0.423	SPINK14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251943.2	NM_001001325		6	58	0	0	0	1	0	6	58					T	147553880	C	T	147553880	2	4	435	1	0	0	0	0	0	0	0	1	15058	776	27	1		1	SPINK14	5	147553880	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	1719127	147553880	33361380	2902	23827											
FBXO38	81545	broad.mit.edu	37	chr5	147813012	147813012	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccaaaacaaagccacgtcaCgccatgaaacggaagcggac	16	2	10	13	4	1	1	1	1	0	0	1	3	1	3	3	2	4	0	3	2	5	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:147813012C>T	ENST00000340253.5	+	16	2847	c.2679C>T	c.(2677-2679)caC>caT	p.H893H	CTD-2283N19.1_ENST00000520980.2_RNA|FBXO38_ENST00000296701.6_Silent_p.H648H|FBXO38_ENST00000394370.3_Silent_p.H818H|FBXO38_ENST00000513826.1_Silent_p.H648H			Q6PIJ6	FBX38_HUMAN	F-box protein 38	893					cell death (GO:0008219)	cytoplasm (GO:0005737)|nucleus (GO:0005634)			ATG4C/FBXO38(2)	NS(1)|breast(2)|endometrium(7)|kidney(5)|large_intestine(9)|lung(15)|ovary(5)|prostate(2)|skin(2)|stomach(2)|urinary_tract(1)	51			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGCCACGTCACGCCATGAAAC	0.413																																						ENST00000340253.5																		ATG4C/FBXO38(2)	0				NS(1)|breast(2)|endometrium(7)|kidney(5)|large_intestine(9)|lung(15)|ovary(5)|prostate(2)|skin(2)|stomach(2)|urinary_tract(1)	51						c.(2677-2679)caC>caT		F-box protein 38							102	100	101					5																	147813012		2203	4300	6503	SO:0001819	synonymous_variant	81545					cytoplasm|nucleus		g.chr5:147813012C>T	BC005873	CCDS43384.1, CCDS64285.1	5q33.1	2008-02-05			ENSG00000145868	ENSG00000145868		"F-boxes /  "other""	28844	protein-coding gene	gene with protein product		608533				12477932	Standard	NM_030793		Approved	MOKA, SP329, FLJ13962, Fbx38	uc003lpg.2	Q6PIJ6	OTTHUMG00000129929	ENST00000340253.5:c.2679C>T	5.37:g.147813012C>T						FBXO38_ENST00000513826.1_Silent_p.H648H|FBXO38_ENST00000296701.6_Silent_p.H648H|FBXO38_ENST00000394370.3_Silent_p.H818H	p.H893H			Q6PIJ6	FBX38_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		16	2847	+			893					Q6PK72|Q7Z2U0|Q86VN3|Q9BXY6|Q9H837|Q9HC40	Silent	SNP	ENST00000340253.5	37	c.2679C>T																																																																																					0.413	FBXO38-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000252185.2	NM_030793		18	34	0	0	0	1	0	18	34					T	147813012	C	T	147813012	2	4	435	1	0	0	0	0	0	0	0	1	5746	535	19	1		1	FBXO38	5	147813012	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	259132	147813012	33102248	2903	23828											
AFAP1L1	134265	broad.mit.edu	37	chr5	148699201	148699201	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgctgctggtggagatgggCtccagagtcactccggaggc	6	8	16	11	1	1	2	1	0	0	2	3	4	3	3	2	5	2	3	2	5	0	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:148699201C>A	ENST00000296721.4	+	13	1634	c.1536C>A	c.(1534-1536)ggC>ggA	p.G512G	AFAP1L1_ENST00000515000.1_Silent_p.G512G	NM_001146337.1|NM_152406.2	NP_001139809.1|NP_689619.1	Q8TED9	AF1L1_HUMAN	actin filament associated protein 1-like 1	512	PH 2. {ECO:0000255|PROSITE- ProRule:PRU00145}.					cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(10)|ovary(1)|pancreas(1)|skin(2)	26			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGAGATGGGCTCCAGAGTCA	0.562																																						ENST00000296721.4																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(10)|ovary(1)|pancreas(1)|skin(2)	26						c.(1534-1536)ggC>ggA		actin filament associated protein 1-like 1							77	72	74					5																	148699201		2203	4300	6503	SO:0001819	synonymous_variant	134265						protein binding	g.chr5:148699201C>A	AK094067	CCDS34274.1, CCDS54932.1	5q33.1	2013-01-10			ENSG00000157510	ENSG00000157510		"Pleckstrin homology (PH) domain containing"	26714	protein-coding gene	gene with protein product		614410					Standard	NM_152406		Approved	FLJ36748	uc003lqh.3	Q8TED9	OTTHUMG00000163441	ENST00000296721.4:c.1536C>A	5.37:g.148699201C>A						AFAP1L1_ENST00000515000.1_Silent_p.G512G	p.G512G	NM_001146337.1|NM_152406.2	NP_001139809.1|NP_689619.1	Q8TED9	AF1L1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		13	1634	+			512			PH 2.		Q08AN4|Q08AN5|Q8IW82|Q8N8Z5|Q8N9Q4	Silent	SNP	ENST00000296721.4	37	c.1536C>A	CCDS34274.1																																																																																				0.562	AFAP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373443.1	NM_152406		7	23	1	0	1.12685e-05	1	1.16601e-05	7	23					A	148699201	C	A	148699201	2	1	435	1	0	0	0	0	0	0	0	1	354	784	28	5		5	AFAP1L1	5	148699201	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	886189	148699201	32216059	2904	23829											
ARHGEF37	389337	broad.mit.edu	37	chr5	149003654	149003654	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccggacgagtaaccagcttcGctcctttcaagagacctttg	9	10	9	13	3	1	1	1	0	0	1	3	4	2	2	4	1	2	3	4	1	2	4	rs372584659		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:149003654G>A	ENST00000333677.6	+	10	1578	c.1415G>A	c.(1414-1416)cGc>cAc	p.R472H		NM_001001669.2	NP_001001669.2	A1IGU5	ARH37_HUMAN	Rho guanine nucleotide exchange factor (GEF) 37	472						cytoplasm (GO:0005737)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			large_intestine(5)|lung(6)|ovary(1)|prostate(2)|stomach(3)	17						AACCAGCTTCGCTCCTTTCAA	0.577																																						ENST00000333677.6																			0				large_intestine(5)|lung(6)|ovary(1)|prostate(2)|stomach(3)	17						c.(1414-1416)cGc>cAc		Rho guanine nucleotide exchange factor (GEF) 37		G	HIS/ARG	0,4058		0,0,2029	102	114	110		1415	-4.5	0	5		110	1,8351		0,1,4175	no	missense	ARHGEF37	NM_001001669.2	29	0,1,6204	AA,AG,GG		0.012,0.0,0.0081	benign	472/676	149003654	1,12409	2029	4176	6205	SO:0001583	missense	389337				regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity	g.chr5:149003654G>A	BC041325	CCDS43385.1	5q33.1	2012-07-24			ENSG00000183111	ENSG00000183111		"Rho guanine nucleotide exchange factors"	34430	protein-coding gene	gene with protein product							Standard	XM_005268448		Approved	FLJ41603	uc003lra.1	A1IGU5	OTTHUMG00000163491	ENST00000333677.6:c.1415G>A	5.37:g.149003654G>A	ENSP00000328083:p.Arg472His						p.R472H	NM_001001669.2	NP_001001669.2	A1IGU5	ARH37_HUMAN			10	1578	+			472					Q6ZW51	Missense_Mutation	SNP	ENST00000333677.6	37	c.1415G>A	CCDS43385.1	.	.	.	.	.	.	.	.	.	.	G	11.53	1.665715	0.29604	0.0	1.2E-4	ENSG00000183111	ENST00000333677	T	0.54675	0.56	5.61	-4.52	0.03472	.	1.073510	0.06964	N	0.816882	T	0.36853	0.0982	N	0.19112	0.55	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.30149	-0.9988	10	0.45353	T	0.12	0.6964	13.8529	0.63508	0.716:0.0:0.284:0.0	.	472	A1IGU5	ARH37_HUMAN	H	472	ENSP00000328083:R472H	ENSP00000328083:R472H	R	+	2	0	ARHGEF37	148983847	0.000000	0.05858	0.002000	0.10522	0.782000	0.44232	-0.243000	0.08915	-0.801000	0.04427	-0.263000	0.10527	CGC		0.577	ARHGEF37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373763.1	NM_001001669		9	29	0	0	0	1	0	9	29					A	149003654	G	A	149003654	3	1	435	1	0	0	0	0	1	0	0	0	906	1087	38	1	1449	1	ARHGEF37	5	149003654	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	304453	149003654	31911606	2905	23830											
PPARGC1B	133522	broad.mit.edu	37	chr5	149212311	149212311	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cacctcacctcggcacagtgCtgcctgcaggatcggggtct	6	8	12	15	2	2	0	1	0	1	0	4	1	2	1	3	4	3	3	3	4	0	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:149212311C>T	ENST00000309241.5	+	5	707	c.675C>T	c.(673-675)tgC>tgT	p.C225C	PPARGC1B_ENST00000360453.4_Silent_p.C186C|PPARGC1B_ENST00000403750.1_Silent_p.C161C|PPARGC1B_ENST00000394320.3_Silent_p.C225C	NM_133263.3	NP_573570.3	Q86YN6	PRGC2_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator 1 beta	225					actin filament organization (GO:0007015)|bone trabecula formation (GO:0060346)|cellular lipid metabolic process (GO:0044255)|cellular response to reactive oxygen species (GO:0034614)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of transcription, DNA-templated (GO:0045892)|ossification (GO:0001503)|positive regulation of alkaline phosphatase activity (GO:0010694)|positive regulation of bone resorption (GO:0045780)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of phosphorylation (GO:0042327)|positive regulation of receptor activity (GO:2000273)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to cAMP (GO:0051591)|response to glucocorticoid (GO:0051384)|small molecule metabolic process (GO:0044281)|transcription from mitochondrial promoter (GO:0006390)|transcription from RNA polymerase II promoter (GO:0006366)	mediator complex (GO:0016592)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	AF-2 domain binding (GO:0050682)|estrogen receptor binding (GO:0030331)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nucleotide binding (GO:0000166)|receptor activator activity (GO:0030546)|RNA binding (GO:0003723)|RNA polymerase II transcription cofactor activity (GO:0001104)			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(2)|lung(15)|ovary(3)|prostate(2)|stomach(1)	30			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			CGGCACAGTGCTGCCTGCAGG	0.622																																						ENST00000309241.5																			0				NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(2)|lung(15)|ovary(3)|prostate(2)|stomach(1)	30						c.(673-675)tgC>tgT		peroxisome proliferator-activated receptor gamma, coactivator 1 beta							110	104	106					5																	149212311		2203	4300	6503	SO:0001819	synonymous_variant	133522				estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter	mediator complex	AF-2 domain binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|receptor activator activity|RNA binding|RNA polymerase II transcription cofactor activity	g.chr5:149212311C>T	AF468496	CCDS4298.1, CCDS54933.1, CCDS54934.1	5q33.1	2013-02-12	2006-10-17		ENSG00000155846	ENSG00000155846		"RNA binding motif (RRM) containing"	30022	protein-coding gene	gene with protein product		608886	"peroxisome proliferative activated receptor, gamma, coactivator 1, beta"			11793024, 11854298	Standard	NM_133263		Approved	PERC, PGC1B	uc003lrc.3	Q86YN6	OTTHUMG00000130055	ENST00000309241.5:c.675C>T	5.37:g.149212311C>T						PPARGC1B_ENST00000403750.1_Silent_p.C161C|PPARGC1B_ENST00000360453.4_Silent_p.C186C|PPARGC1B_ENST00000394320.3_Silent_p.C225C	p.C225C	NM_133263.3	NP_573570.3	Q86YN6	PRGC2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		5	707	+			225					A2RUM8|A2RUN0|B3KVW0|Q86YN3|Q86YN4|Q86YN5|Q8N1N9|Q8TDE4|Q8TDE5	Silent	SNP	ENST00000309241.5	37	c.675C>T	CCDS4298.1																																																																																				0.622	PPARGC1B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252334.1	NM_133263		30	41	0	0	0	1	0	30	41					T	149212311	C	T	149212311	2	4	435	1	0	0	0	0	0	0	0	1	12301	805	28	3		3	PPARGC1B	5	149212311	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	208657	149212311	31702949	2906	23831											
PPARGC1B	133522	broad.mit.edu	37	chr5	149212721	149212721	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cagcaaaccctaccgtctggCcacgcctgtttatgcctccc	7	9	7	18	2	1	0	0	0	1	0	2	0	2	0	6	1	4	2	6	1	3	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:149212721C>T	ENST00000309241.5	+	5	1117	c.1085C>T	c.(1084-1086)gCc>gTc	p.A362V	PPARGC1B_ENST00000360453.4_Missense_Mutation_p.A323V|PPARGC1B_ENST00000403750.1_Missense_Mutation_p.A298V|PPARGC1B_ENST00000394320.3_Missense_Mutation_p.A362V	NM_133263.3	NP_573570.3	Q86YN6	PRGC2_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator 1 beta	362					actin filament organization (GO:0007015)|bone trabecula formation (GO:0060346)|cellular lipid metabolic process (GO:0044255)|cellular response to reactive oxygen species (GO:0034614)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of transcription, DNA-templated (GO:0045892)|ossification (GO:0001503)|positive regulation of alkaline phosphatase activity (GO:0010694)|positive regulation of bone resorption (GO:0045780)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of phosphorylation (GO:0042327)|positive regulation of receptor activity (GO:2000273)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to cAMP (GO:0051591)|response to glucocorticoid (GO:0051384)|small molecule metabolic process (GO:0044281)|transcription from mitochondrial promoter (GO:0006390)|transcription from RNA polymerase II promoter (GO:0006366)	mediator complex (GO:0016592)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	AF-2 domain binding (GO:0050682)|estrogen receptor binding (GO:0030331)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nucleotide binding (GO:0000166)|receptor activator activity (GO:0030546)|RNA binding (GO:0003723)|RNA polymerase II transcription cofactor activity (GO:0001104)			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(2)|lung(15)|ovary(3)|prostate(2)|stomach(1)	30			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			TACCGTCTGGCCACGCCTGTT	0.617																																						ENST00000309241.5																			0				NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(2)|lung(15)|ovary(3)|prostate(2)|stomach(1)	30						c.(1084-1086)gCc>gTc		peroxisome proliferator-activated receptor gamma, coactivator 1 beta							61	65	63					5																	149212721		2203	4300	6503	SO:0001583	missense	133522				estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter	mediator complex	AF-2 domain binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|receptor activator activity|RNA binding|RNA polymerase II transcription cofactor activity	g.chr5:149212721C>T	AF468496	CCDS4298.1, CCDS54933.1, CCDS54934.1	5q33.1	2013-02-12	2006-10-17		ENSG00000155846	ENSG00000155846		"RNA binding motif (RRM) containing"	30022	protein-coding gene	gene with protein product		608886	"peroxisome proliferative activated receptor, gamma, coactivator 1, beta"			11793024, 11854298	Standard	NM_133263		Approved	PERC, PGC1B	uc003lrc.3	Q86YN6	OTTHUMG00000130055	ENST00000309241.5:c.1085C>T	5.37:g.149212721C>T	ENSP00000312649:p.Ala362Val					PPARGC1B_ENST00000403750.1_Missense_Mutation_p.A298V|PPARGC1B_ENST00000360453.4_Missense_Mutation_p.A323V|PPARGC1B_ENST00000394320.3_Missense_Mutation_p.A362V	p.A362V	NM_133263.3	NP_573570.3	Q86YN6	PRGC2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		5	1117	+			362					A2RUM8|A2RUN0|B3KVW0|Q86YN3|Q86YN4|Q86YN5|Q8N1N9|Q8TDE4|Q8TDE5	Missense_Mutation	SNP	ENST00000309241.5	37	c.1085C>T	CCDS4298.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.034036	0.75504	.	.	ENSG00000155846	ENST00000360453;ENST00000394320;ENST00000309241;ENST00000403750	T;T;T;T	0.11604	2.77;2.89;2.9;2.76	5.61	5.61	0.85477	.	0.148159	0.46442	D	0.000294	T	0.24044	0.0582	L	0.34521	1.04	0.32192	N	0.578978	D;D;D;D;D	0.89917	0.999;1.0;1.0;0.999;1.0	D;D;D;D;D	0.85130	0.971;0.997;0.982;0.936;0.984	T	0.03130	-1.1069	10	0.59425	D	0.04	-21.0223	16.1579	0.81677	0.0:0.8578:0.1422:0.0	.	341;341;323;362;362	Q86YN6-2;Q86YN6-4;Q86YN6-5;Q86YN6;Q86YN6-3	.;.;.;PRGC2_HUMAN;.	V	323;362;362;298	ENSP00000353638:A323V;ENSP00000377855:A362V;ENSP00000312649:A362V;ENSP00000384403:A298V	ENSP00000312649:A362V	A	+	2	0	PPARGC1B	149192914	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.249000	0.51437	2.636000	0.89361	0.655000	0.94253	GCC		0.617	PPARGC1B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252334.1	NM_133263		21	24	0	0	0	1	0	21	24					T	149212721	C	T	149212721	3	4	435	1	0	0	0	0	1	0	0	0	12301	739	26	3	1110	3	PPARGC1B	5	149212721	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	410	149212721	31702539	2907	23832											
PPARGC1B	133522	broad.mit.edu	37	chr5	149216065	149216065	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cctcccaggctggccagaagCgtcccttctcctgttccttt	4	12	8	17	1	1	1	0	0	1	1	5	1	4	1	6	2	1	2	6	2	1	3	rs201395294		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:149216065C>T	ENST00000309241.5	+	8	2079	c.2047C>T	c.(2047-2049)Cgt>Tgt	p.R683C	PPARGC1B_ENST00000360453.4_Missense_Mutation_p.R644C|PPARGC1B_ENST00000403750.1_Missense_Mutation_p.R619C|PPARGC1B_ENST00000394320.3_Missense_Mutation_p.R683C	NM_133263.3	NP_573570.3	Q86YN6	PRGC2_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator 1 beta	683					actin filament organization (GO:0007015)|bone trabecula formation (GO:0060346)|cellular lipid metabolic process (GO:0044255)|cellular response to reactive oxygen species (GO:0034614)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of transcription, DNA-templated (GO:0045892)|ossification (GO:0001503)|positive regulation of alkaline phosphatase activity (GO:0010694)|positive regulation of bone resorption (GO:0045780)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of phosphorylation (GO:0042327)|positive regulation of receptor activity (GO:2000273)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to cAMP (GO:0051591)|response to glucocorticoid (GO:0051384)|small molecule metabolic process (GO:0044281)|transcription from mitochondrial promoter (GO:0006390)|transcription from RNA polymerase II promoter (GO:0006366)	mediator complex (GO:0016592)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	AF-2 domain binding (GO:0050682)|estrogen receptor binding (GO:0030331)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nucleotide binding (GO:0000166)|receptor activator activity (GO:0030546)|RNA binding (GO:0003723)|RNA polymerase II transcription cofactor activity (GO:0001104)			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(2)|lung(15)|ovary(3)|prostate(2)|stomach(1)	30			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			TGGCCAGAAGCGTCCCTTCTC	0.627																																						ENST00000309241.5																			0				NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(2)|lung(15)|ovary(3)|prostate(2)|stomach(1)	30						c.(2047-2049)Cgt>Tgt		peroxisome proliferator-activated receptor gamma, coactivator 1 beta							49	54	52					5																	149216065		2202	4298	6500	SO:0001583	missense	133522				estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter	mediator complex	AF-2 domain binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|receptor activator activity|RNA binding|RNA polymerase II transcription cofactor activity	g.chr5:149216065C>T	AF468496	CCDS4298.1, CCDS54933.1, CCDS54934.1	5q33.1	2013-02-12	2006-10-17		ENSG00000155846	ENSG00000155846		"RNA binding motif (RRM) containing"	30022	protein-coding gene	gene with protein product		608886	"peroxisome proliferative activated receptor, gamma, coactivator 1, beta"			11793024, 11854298	Standard	NM_133263		Approved	PERC, PGC1B	uc003lrc.3	Q86YN6	OTTHUMG00000130055	ENST00000309241.5:c.2047C>T	5.37:g.149216065C>T	ENSP00000312649:p.Arg683Cys					PPARGC1B_ENST00000403750.1_Missense_Mutation_p.R619C|PPARGC1B_ENST00000360453.4_Missense_Mutation_p.R644C|PPARGC1B_ENST00000394320.3_Missense_Mutation_p.R683C	p.R683C	NM_133263.3	NP_573570.3	Q86YN6	PRGC2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		8	2079	+			683					A2RUM8|A2RUN0|B3KVW0|Q86YN3|Q86YN4|Q86YN5|Q8N1N9|Q8TDE4|Q8TDE5	Missense_Mutation	SNP	ENST00000309241.5	37	c.2047C>T	CCDS4298.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.52|16.52	3.145667|3.145667	0.57044|0.57044	.|.	.|.	ENSG00000155846|ENSG00000155846	ENST00000434684|ENST00000360453;ENST00000394320;ENST00000309241;ENST00000403750	.|T;T;T;T	.|0.21543	.|2.01;2.0;2.03;2.0	4.47|4.47	3.52|3.52	0.40303|0.40303	.|.	.|0.193702	.|0.33161	.|N	.|0.005210	T|T	0.44808|0.44808	0.1311|0.1311	M|M	0.80332|0.80332	2.49|2.49	0.47905|0.47905	D|D	0.999546|0.999546	.|D;D;D;D;D	.|0.89917	.|1.0;1.0;1.0;1.0;1.0	.|D;D;D;D;D	.|0.69479	.|0.961;0.917;0.961;0.915;0.964	T|T	0.49844|0.49844	-0.8896|-0.8896	5|10	.|0.87932	.|D	.|0	-17.9009|-17.9009	11.6325|11.6325	0.51185|0.51185	0.3102:0.6898:0.0:0.0|0.3102:0.6898:0.0:0.0	.|.	.|662;662;644;683;683	.|Q86YN6-2;Q86YN6-4;Q86YN6-5;Q86YN6;Q86YN6-3	.|.;.;.;PRGC2_HUMAN;.	V|C	369|644;683;683;619	.|ENSP00000353638:R644C;ENSP00000377855:R683C;ENSP00000312649:R683C;ENSP00000384403:R619C	.|ENSP00000312649:R683C	A|R	+|+	2|1	0|0	PPARGC1B|PPARGC1B	149196258|149196258	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.909000|0.909000	0.53808|0.53808	1.257000|1.257000	0.32932|0.32932	2.212000|2.212000	0.71576|0.71576	0.456000|0.456000	0.33151|0.33151	GCG|CGT		0.627	PPARGC1B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252334.1	NM_133263		16	24	0	0	0	1	0	16	24					T	149216065	C	T	149216065	3	4	435	1	0	0	0	0	1	0	0	0	12301	768	27	1	2084	1	PPARGC1B	5	149216065	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	3344	149216065	31699195	2908	23833											
PPARGC1B	133522	broad.mit.edu	37	chr5	149216274	149216274	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggcgccccacccaaggacagCacgctgctgagagaccatga	11	3	12	15	2	0	3	0	2	0	1	0	5	0	4	4	2	2	3	4	2	1	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:149216274C>T	ENST00000309241.5	+	8	2288	c.2256C>T	c.(2254-2256)agC>agT	p.S752S	PPARGC1B_ENST00000360453.4_Silent_p.S713S|PPARGC1B_ENST00000403750.1_Silent_p.S688S|PPARGC1B_ENST00000394320.3_Silent_p.S752S	NM_133263.3	NP_573570.3	Q86YN6	PRGC2_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator 1 beta	752					actin filament organization (GO:0007015)|bone trabecula formation (GO:0060346)|cellular lipid metabolic process (GO:0044255)|cellular response to reactive oxygen species (GO:0034614)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of transcription, DNA-templated (GO:0045892)|ossification (GO:0001503)|positive regulation of alkaline phosphatase activity (GO:0010694)|positive regulation of bone resorption (GO:0045780)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of phosphorylation (GO:0042327)|positive regulation of receptor activity (GO:2000273)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to cAMP (GO:0051591)|response to glucocorticoid (GO:0051384)|small molecule metabolic process (GO:0044281)|transcription from mitochondrial promoter (GO:0006390)|transcription from RNA polymerase II promoter (GO:0006366)	mediator complex (GO:0016592)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	AF-2 domain binding (GO:0050682)|estrogen receptor binding (GO:0030331)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nucleotide binding (GO:0000166)|receptor activator activity (GO:0030546)|RNA binding (GO:0003723)|RNA polymerase II transcription cofactor activity (GO:0001104)			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(2)|lung(15)|ovary(3)|prostate(2)|stomach(1)	30			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			CCAAGGACAGCACGCTGCTGA	0.647																																						ENST00000309241.5																			0				NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(2)|lung(15)|ovary(3)|prostate(2)|stomach(1)	30						c.(2254-2256)agC>agT		peroxisome proliferator-activated receptor gamma, coactivator 1 beta							82	82	82					5																	149216274		2203	4300	6503	SO:0001819	synonymous_variant	133522				estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter	mediator complex	AF-2 domain binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|receptor activator activity|RNA binding|RNA polymerase II transcription cofactor activity	g.chr5:149216274C>T	AF468496	CCDS4298.1, CCDS54933.1, CCDS54934.1	5q33.1	2013-02-12	2006-10-17		ENSG00000155846	ENSG00000155846		"RNA binding motif (RRM) containing"	30022	protein-coding gene	gene with protein product		608886	"peroxisome proliferative activated receptor, gamma, coactivator 1, beta"			11793024, 11854298	Standard	NM_133263		Approved	PERC, PGC1B	uc003lrc.3	Q86YN6	OTTHUMG00000130055	ENST00000309241.5:c.2256C>T	5.37:g.149216274C>T						PPARGC1B_ENST00000403750.1_Silent_p.S688S|PPARGC1B_ENST00000360453.4_Silent_p.S713S|PPARGC1B_ENST00000394320.3_Silent_p.S752S	p.S752S	NM_133263.3	NP_573570.3	Q86YN6	PRGC2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		8	2288	+			752					A2RUM8|A2RUN0|B3KVW0|Q86YN3|Q86YN4|Q86YN5|Q8N1N9|Q8TDE4|Q8TDE5	Silent	SNP	ENST00000309241.5	37	c.2256C>T	CCDS4298.1	.	.	.	.	.	.	.	.	.	.	C	3.470	-0.108102	0.06924	.	.	ENSG00000155846	ENST00000434684	.	.	.	4.93	-9.17	0.00691	.	.	.	.	.	T	0.63058	0.2479	.	.	.	0.54753	D	0.99998	.	.	.	.	.	.	T	0.71748	-0.4499	4	.	.	.	-7.9899	17.7004	0.88293	0.0858:0.7246:0.0:0.1896	.	.	.	.	Y	439	.	.	H	+	1	0	PPARGC1B	149196467	0.000000	0.05858	0.000000	0.03702	0.704000	0.40688	-1.754000	0.01816	-1.924000	0.01064	-0.379000	0.06801	CAC		0.647	PPARGC1B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252334.1	NM_133263		27	40	0	0	0	1	0	27	40					T	149216274	C	T	149216274	2	4	435	1	0	0	0	0	0	0	0	1	12301	709	25	3		3	PPARGC1B	5	149216274	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	209	149216274	31698986	2909	23834											
PDE6A	5145	broad.mit.edu	37	chr5	149264056	149264056	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	accaacttgaaatacagggcGaggtctgtggcaatgattgc	12	9	12	8	1	1	2	0	2	1	0	1	3	1	2	1	3	3	1	1	3	4	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:149264056G>A	ENST00000255266.5	-	16	2132	c.2013C>T	c.(2011-2013)ctC>ctT	p.L671L		NM_000440.2	NP_000431.2	P16499	PDE6A_HUMAN	phosphodiesterase 6A, cGMP-specific, rod, alpha	671					cytosolic calcium ion homeostasis (GO:0051480)|GMP metabolic process (GO:0046037)|phototransduction, visible light (GO:0007603)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|retina development in camera-type eye (GO:0060041)|rhodopsin mediated signaling pathway (GO:0016056)|visual perception (GO:0007601)	photoreceptor disc membrane (GO:0097381)|plasma membrane (GO:0005886)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|metal ion binding (GO:0046872)			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	44			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		Caffeine(DB00201)	AATACAGGGCGAGGTCTGTGG	0.338																																						ENST00000255266.5																			0				breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	44						c.(2011-2013)ctC>ctT		phosphodiesterase 6A, cGMP-specific, rod, alpha							99	98	99					5																	149264056		2203	4300	6503	SO:0001819	synonymous_variant	5145				cytosolic calcium ion homeostasis|GMP metabolic process|platelet activation|signal transduction|visual perception	cytosol|plasma membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding	g.chr5:149264056G>A		CCDS4299.1	5q31.2-q34	2013-02-14			ENSG00000132915	ENSG00000132915	3.1.4.17	"Phosphodiesterases"	8785	protein-coding gene	gene with protein product		180071		PDEA		2155175	Standard	NM_000440		Approved	RP43	uc003lrg.4	P16499	OTTHUMG00000130047	ENST00000255266.5:c.2013C>T	5.37:g.149264056G>A							p.L671L	NM_000440.2	NP_000431.2	P16499	PDE6A_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		16	2132	-			671					Q0P638	Silent	SNP	ENST00000255266.5	37	c.2013C>T	CCDS4299.1																																																																																				0.338	PDE6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252326.2			25	27	0	0	0	1	0	25	27					A	149264056	G	A	149264056	2	1	435	1	0	0	0	0	0	0	0	1	11645	1045	37	2		2	PDE6A	5	149264056	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	47782	149264056	31651204	2910	23835											
SLC26A2	1836	broad.mit.edu	37	chr5	149360642	149360642	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	taaatctacggggagcccttCgtaaatttagggatcttccc	10	12	9	10	2	2	0	0	0	2	0	4	2	3	2	2	3	2	1	2	3	6	7			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:149360642C>T	ENST00000286298.4	+	3	1754	c.1486C>T	c.(1486-1488)Cgt>Tgt	p.R496C		NM_000112.3	NP_000103.2	P50443	S26A2_HUMAN	solute carrier family 26 (anion exchanger), member 2	496					3'-phosphoadenosine 5'-phosphosulfate biosynthetic process (GO:0050428)|3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|ion transport (GO:0006811)|ossification (GO:0001503)|small molecule metabolic process (GO:0044281)|sulfate transmembrane transport (GO:1902358)|sulfate transport (GO:0008272)|transmembrane transport (GO:0055085)|xenobiotic metabolic process (GO:0006805)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	secondary active sulfate transmembrane transporter activity (GO:0008271)|sulfate transmembrane transporter activity (GO:0015116)			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(1)|prostate(2)|stomach(1)	18			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			GGGAGCCCTTCGTAAATTTAG	0.398																																						ENST00000286298.4																			0				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(1)|prostate(2)|stomach(1)	18						c.(1486-1488)Cgt>Tgt		solute carrier family 26 (anion exchanger), member 2							92	95	94					5																	149360642		2203	4300	6503	SO:0001583	missense	1836					integral to plasma membrane|membrane fraction	secondary active sulfate transmembrane transporter activity	g.chr5:149360642C>T	U14528	CCDS4300.1	5q31-q34	2014-09-17	2013-07-18		ENSG00000155850	ENSG00000155850		"Solute carriers"	10994	protein-coding gene	gene with protein product		606718	"solute carrier family 26 (sulfate transporter), member 2"	DTD		7923357	Standard	NM_000112		Approved	DTDST	uc003lrh.3	P50443	OTTHUMG00000130054	ENST00000286298.4:c.1486C>T	5.37:g.149360642C>T	ENSP00000286298:p.Arg496Cys						p.R496C	NM_000112.3	NP_000103.2	P50443	S26A2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		3	1754	+			496					A8K2U3|B2R6J1|Q6N051	Missense_Mutation	SNP	ENST00000286298.4	37	c.1486C>T	CCDS4300.1	.	.	.	.	.	.	.	.	.	.	C	8.709	0.911505	0.17833	.	.	ENSG00000155850	ENST00000286298	D	0.93019	-3.15	6.17	0.505	0.16953	Sulphate transporter (1);	0.663319	0.16176	N	0.226075	D	0.92074	0.7488	M	0.85542	2.76	0.09310	N	1	B	0.27229	0.172	B	0.33196	0.159	D	0.83818	0.0245	10	0.38643	T	0.18	.	5.0259	0.14385	0.2088:0.4697:0.0:0.3216	.	496	P50443	S26A2_HUMAN	C	496	ENSP00000286298:R496C	ENSP00000286298:R496C	R	+	1	0	SLC26A2	149340835	0.000000	0.05858	0.013000	0.15412	0.756000	0.42949	0.064000	0.14437	-0.198000	0.10333	0.655000	0.94253	CGT		0.398	SLC26A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252333.2	NM_000112		39	55	0	0	0	1	0	39	55					T	149360642	C	T	149360642	3	4	435	1	0	0	0	0	1	0	0	0	14517	884	31	2	1492	2	SLC26A2	5	149360642	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	96586	149360642	31554618	2911	23836											
CSF1R	1436	broad.mit.edu	37	chr5	149460389	149460389	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggtctccaggctcagtgcagCgataggtccccgtgttttgg	5	11	14	11	2	2	0	1	0	1	0	4	1	3	0	3	4	2	3	3	4	1	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:149460389C>T	ENST00000286301.3	-	3	539	c.248G>A	c.(247-249)cGc>cAc	p.R83H	CSF1R_ENST00000543093.1_Missense_Mutation_p.R83H	NM_005211.3	NP_005202.2	P07333	CSF1R_HUMAN	colony stimulating factor 1 receptor	83	Ig-like C2-type 1.				cell proliferation (GO:0008283)|cell-cell junction maintenance (GO:0045217)|cellular response to cytokine stimulus (GO:0071345)|cellular response to macrophage colony-stimulating factor stimulus (GO:0036006)|cytokine-mediated signaling pathway (GO:0019221)|hemopoiesis (GO:0030097)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|macrophage differentiation (GO:0030225)|mammary gland duct morphogenesis (GO:0060603)|monocyte differentiation (GO:0030224)|multicellular organismal development (GO:0007275)|osteoclast differentiation (GO:0030316)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol metabolic process (GO:0046488)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell migration (GO:0030335)|positive regulation of cell motility (GO:2000147)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chemokine secretion (GO:0090197)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|protein autophosphorylation (GO:0046777)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of bone resorption (GO:0045124)|regulation of cell shape (GO:0008360)|ruffle organization (GO:0031529)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|cytokine binding (GO:0019955)|macrophage colony-stimulating factor receptor activity (GO:0005011)|protein homodimerization activity (GO:0042803)			NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(38)|kidney(2)|large_intestine(6)|liver(3)|lung(23)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	93			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		Imatinib(DB00619)|Sunitinib(DB01268)	CTCAGTGCAGCGATAGGTCCC	0.617																																						ENST00000286301.3																			0				NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(38)|kidney(2)|large_intestine(6)|liver(3)|lung(23)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	93						c.(247-249)cGc>cAc		colony stimulating factor 1 receptor	Imatinib(DB00619)|Sunitinib(DB01268)						111	77	88					5																	149460389		2203	4300	6503	SO:0001583	missense	1436				cell proliferation|multicellular organismal development|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane|receptor complex	ATP binding|cytokine binding|macrophage colony-stimulating factor receptor activity|protein homodimerization activity	g.chr5:149460389C>T	U63963	CCDS4302.1	5q32	2013-01-11	2008-08-01		ENSG00000182578	ENSG00000182578		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	2433	protein-coding gene	gene with protein product		164770	"McDonough feline sarcoma viral (v-fms) oncogene homolog"	FMS		1611909	Standard	NM_005211		Approved	C-FMS, CSFR, CD115	uc003lrm.3	P07333	OTTHUMG00000130050	ENST00000286301.3:c.248G>A	5.37:g.149460389C>T	ENSP00000286301:p.Arg83His					CSF1R_ENST00000543093.1_Missense_Mutation_p.R83H	p.R83H	NM_005211.3	NP_005202.2	P07333	CSF1R_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		3	539	-			83			Ig-like C2-type 1.		B5A955|D3DQG2|Q6LDW5|Q6LDY4|Q86VW7	Missense_Mutation	SNP	ENST00000286301.3	37	c.248G>A	CCDS4302.1	.	.	.	.	.	.	.	.	.	.	C	6.465	0.453970	0.12283	.	.	ENSG00000182578	ENST00000286301;ENST00000543093	T;T	0.03242	4.0;4.0	5.17	-2.31	0.06765	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.408765	0.19679	N	0.108553	T	0.03520	0.0101	L	0.55990	1.75	0.22280	N	0.999233	B;B;B	0.23540	0.087;0.023;0.022	B;B;B	0.15484	0.01;0.013;0.004	T	0.46992	-0.9151	10	0.12766	T	0.61	.	10.7928	0.46443	0.0:0.4521:0.0:0.5479	.	83;83;83	B4DG86;B5A955;P07333	.;.;CSF1R_HUMAN	H	83	ENSP00000286301:R83H;ENSP00000445282:R83H	ENSP00000286301:R83H	R	-	2	0	CSF1R	149440582	0.080000	0.21391	0.607000	0.28956	0.008000	0.06430	-0.986000	0.03747	-0.457000	0.07033	-1.202000	0.01658	CGC		0.617	CSF1R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252329.2	NM_005211		7	7	0	0	0	1	0	7	7					T	149460389	C	T	149460389	3	4	435	1	0	0	0	0	1	0	0	0	3932	768	27	1	2750	1	CSF1R	5	149460389	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	99747	149460389	31454871	2912	23837											
CSF1R	1436	broad.mit.edu	37	chr5	149460482	149460482	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tccagtgaggtgatggggggCcatcccattccacgctgcca	7	8	13	13	1	0	2	0	2	0	0	3	2	3	2	5	4	1	1	5	4	0	1	rs144261133		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:149460482C>T	ENST00000286301.3	-	3	446	c.155G>A	c.(154-156)gGc>gAc	p.G52D	CSF1R_ENST00000543093.1_Missense_Mutation_p.G52D	NM_005211.3	NP_005202.2	P07333	CSF1R_HUMAN	colony stimulating factor 1 receptor	52	Ig-like C2-type 1.				cell proliferation (GO:0008283)|cell-cell junction maintenance (GO:0045217)|cellular response to cytokine stimulus (GO:0071345)|cellular response to macrophage colony-stimulating factor stimulus (GO:0036006)|cytokine-mediated signaling pathway (GO:0019221)|hemopoiesis (GO:0030097)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|macrophage differentiation (GO:0030225)|mammary gland duct morphogenesis (GO:0060603)|monocyte differentiation (GO:0030224)|multicellular organismal development (GO:0007275)|osteoclast differentiation (GO:0030316)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol metabolic process (GO:0046488)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell migration (GO:0030335)|positive regulation of cell motility (GO:2000147)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chemokine secretion (GO:0090197)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|protein autophosphorylation (GO:0046777)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of bone resorption (GO:0045124)|regulation of cell shape (GO:0008360)|ruffle organization (GO:0031529)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|cytokine binding (GO:0019955)|macrophage colony-stimulating factor receptor activity (GO:0005011)|protein homodimerization activity (GO:0042803)			NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(38)|kidney(2)|large_intestine(6)|liver(3)|lung(23)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	93			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		Imatinib(DB00619)|Sunitinib(DB01268)	TGATGGGGGGCCATCCCATTC	0.587																																						ENST00000286301.3																			0				NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(38)|kidney(2)|large_intestine(6)|liver(3)|lung(23)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	93						c.(154-156)gGc>gAc		colony stimulating factor 1 receptor	Imatinib(DB00619)|Sunitinib(DB01268)						130	91	104					5																	149460482		2203	4300	6503	SO:0001583	missense	1436				cell proliferation|multicellular organismal development|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane|receptor complex	ATP binding|cytokine binding|macrophage colony-stimulating factor receptor activity|protein homodimerization activity	g.chr5:149460482C>T	U63963	CCDS4302.1	5q32	2013-01-11	2008-08-01		ENSG00000182578	ENSG00000182578		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	2433	protein-coding gene	gene with protein product		164770	"McDonough feline sarcoma viral (v-fms) oncogene homolog"	FMS		1611909	Standard	NM_005211		Approved	C-FMS, CSFR, CD115	uc003lrm.3	P07333	OTTHUMG00000130050	ENST00000286301.3:c.155G>A	5.37:g.149460482C>T	ENSP00000286301:p.Gly52Asp					CSF1R_ENST00000543093.1_Missense_Mutation_p.G52D	p.G52D	NM_005211.3	NP_005202.2	P07333	CSF1R_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		3	446	-			52			Ig-like C2-type 1.		B5A955|D3DQG2|Q6LDW5|Q6LDY4|Q86VW7	Missense_Mutation	SNP	ENST00000286301.3	37	c.155G>A	CCDS4302.1	.	.	.	.	.	.	.	.	.	.	C	9.395	1.076601	0.20227	.	.	ENSG00000182578	ENST00000286301;ENST00000543093	T;T	0.26957	1.7;1.7	5.46	4.57	0.56435	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.815706	0.10548	N	0.661813	T	0.40119	0.1104	L	0.51422	1.61	0.09310	N	1	D;D;P	0.59767	0.986;0.976;0.955	P;P;P	0.58721	0.784;0.844;0.504	T	0.16630	-1.0396	10	0.36615	T	0.2	.	11.6881	0.51499	0.177:0.823:0.0:0.0	.	52;52;52	B4DG86;B5A955;P07333	.;.;CSF1R_HUMAN	D	52	ENSP00000286301:G52D;ENSP00000445282:G52D	ENSP00000286301:G52D	G	-	2	0	CSF1R	149440675	0.016000	0.18221	0.330000	0.25442	0.089000	0.18198	0.822000	0.27352	1.404000	0.46819	0.655000	0.94253	GGC		0.587	CSF1R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252329.2	NM_005211		13	13	0	0	0	1	0	13	13					T	149460482	C	T	149460482	3	4	435	1	0	0	0	0	1	0	0	0	3932	739	26	3	2843	3	CSF1R	5	149460482	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	93	149460482	31454778	2913	23838											
SLC6A7	6534	broad.mit.edu	37	chr5	149576691	149576691	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acgtgctcttctacctcttcGcctccctcaccagcgaccta	6	11	5	19	3	4	0	1	0	3	0	6	1	5	0	5	0	3	1	5	0	2	4	rs142334935		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:149576691G>A	ENST00000230671.2	+	4	807	c.436G>A	c.(436-438)Gcc>Acc	p.A146T	SLC6A7_ENST00000524041.1_Missense_Mutation_p.A146T	NM_014228.3	NP_055043.2	Q99884	SC6A7_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 7	146					proline transport (GO:0015824)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	neurotransmitter:sodium symporter activity (GO:0005328)			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(1)|stomach(1)	16		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		L-Proline(DB00172)	CTACCTCTTCGCCTCCCTCAC	0.612																																						ENST00000230671.2																			0				NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(1)|stomach(1)	16						c.(436-438)Gcc>Acc		solute carrier family 6 (neurotransmitter transporter), member 7	L-Proline(DB00172)	G	THR/ALA	0,4406		0,0,2203	127	112	117		436	5.4	1	5	dbSNP_134	117	1,8599	1.2+/-3.3	0,1,4299	no	missense	SLC6A7	NM_014228.3	58	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	146/637	149576691	1,13005	2203	4300	6503	SO:0001583	missense	6534					integral to plasma membrane|membrane fraction	neurotransmitter:sodium symporter activity|proline:sodium symporter activity	g.chr5:149576691G>A	S80071	CCDS4305.1	5q32	2013-07-19	2013-07-19		ENSG00000011083	ENSG00000011083		"Solute carriers"	11054	protein-coding gene	gene with protein product	"brain-specific L-proline transporter", "sodium-dependent proline transporter"	606205	"solute carrier family 6 (neurotransmitter transporter, L-proline), member 7"			7651355	Standard	NM_014228		Approved	PROT	uc003lrr.3	Q99884	OTTHUMG00000130046	ENST00000230671.2:c.436G>A	5.37:g.149576691G>A	ENSP00000230671:p.Ala146Thr					SLC6A7_ENST00000524041.1_Missense_Mutation_p.A146T	p.A146T	NM_014228.3	NP_055043.2	Q99884	SC6A7_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		4	807	+		all_hematologic(541;0.224)	146					Q0VG81|Q52LU6	Missense_Mutation	SNP	ENST00000230671.2	37	c.436G>A	CCDS4305.1	.	.	.	.	.	.	.	.	.	.	G	23.6	4.436373	0.83885	0.0	1.16E-4	ENSG00000011083	ENST00000230671;ENST00000524041	T;T	0.74315	-0.83;-0.83	5.39	5.39	0.77823	.	0.094927	0.64402	D	0.000001	D	0.83963	0.5368	M	0.72353	2.195	0.47511	D	0.999445	D	0.57571	0.98	P	0.58210	0.835	D	0.85623	0.1265	10	0.72032	D	0.01	.	19.1719	0.93581	0.0:0.0:1.0:0.0	.	146	Q99884	SC6A7_HUMAN	T	146	ENSP00000230671:A146T;ENSP00000428200:A146T	ENSP00000230671:A146T	A	+	1	0	SLC6A7	149556884	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.708000	0.54845	2.534000	0.85438	0.655000	0.94253	GCC		0.612	SLC6A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252325.1	NM_014228		18	26	0	0	0	1	0	18	26					A	149576691	G	A	149576691	3	1	435	1	0	0	0	0	1	0	0	0	14689	1087	38	1	450	1	SLC6A7	5	149576691	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	116209	149576691	31338569	2914	23839											
ARSI	340075	broad.mit.edu	37	chr5	149677669	149677669	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccaggtgatgttgcgcacaGcctcatccatgcaggtcacc	8	8	10	15	1	2	1	2	1	0	0	3	1	3	1	4	2	3	3	4	2	0	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:149677669G>A	ENST00000328668.7	-	2	1397	c.818C>T	c.(817-819)gCt>gTt	p.A273V		NM_001012301.2	NP_001012301.1	Q5FYB1	ARSI_HUMAN	arylsulfatase family, member I	273					cellular protein metabolic process (GO:0044267)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	23			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GTTGCGCACAGCCTCATCCAT	0.597																																						ENST00000328668.7																			0				central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	23						c.(817-819)gCt>gTt		arylsulfatase family, member I							43	37	39					5																	149677669		2203	4300	6503	SO:0001583	missense	340075					endoplasmic reticulum|extracellular region	arylsulfatase activity|metal ion binding	g.chr5:149677669G>A	AY875937	CCDS34275.1	5q32	2014-03-03	2006-03-07			ENSG00000183876		"Arylsulfatase family"	32521	protein-coding gene	gene with protein product		610009	"arylsulfatase I"			16174644, 24482476	Standard	NM_001012301		Approved	FLJ16069, SPG66	uc003lrv.2	Q5FYB1		ENST00000328668.7:c.818C>T	5.37:g.149677669G>A	ENSP00000333395:p.Ala273Val						p.A273V	NM_001012301.2	NP_001012301.1	Q5FYB1	ARSI_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		2	1397	-			273					A1L3B0|B3KV22|B7XD03	Missense_Mutation	SNP	ENST00000328668.7	37	c.818C>T	CCDS34275.1	.	.	.	.	.	.	.	.	.	.	G	26.4	4.732375	0.89482	.	.	ENSG00000183876	ENST00000328668;ENST00000515301	D;D	0.96830	-4.14;-4.14	4.46	4.46	0.54185	Alkaline phosphatase-like, alpha/beta/alpha (1);Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.000000	0.85682	D	0.000000	D	0.98083	0.9368	M	0.83384	2.64	0.80722	D	1	D	0.71674	0.998	D	0.76575	0.988	D	0.98745	1.0718	10	0.62326	D	0.03	.	17.6599	0.88189	0.0:0.0:1.0:0.0	.	273	Q5FYB1	ARSI_HUMAN	V	273;130	ENSP00000333395:A273V;ENSP00000426879:A130V	ENSP00000333395:A273V	A	-	2	0	ARSI	149657862	1.000000	0.71417	0.996000	0.52242	0.988000	0.76386	5.501000	0.66950	2.460000	0.83146	0.561000	0.74099	GCT		0.597	ARSI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373681.1	NM_001012301		6	17	0	0	0	1	0	6	17					A	149677669	G	A	149677669	3	1	435	1	0	0	0	0	1	0	0	0	994	971	34	3	895	3	ARSI	5	149677669	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	100978	149677669	31237591	2915	23840											
NDST1	3340	broad.mit.edu	37	chr5	149907854	149907854	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acacgcatgaaggtggaggaCgtgaaggtatggccgggggt	10	6	19	6	3	0	2	0	2	0	0	0	4	0	4	1	7	0	2	1	7	3	1	rs147214079	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:149907854C>T	ENST00000261797.6	+	3	1504	c.1002C>T	c.(1000-1002)gaC>gaT	p.D334D	NDST1_ENST00000523767.1_Silent_p.D334D	NM_001543.4	NP_001534.1	P52848	NDST1_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 1	334	Heparan sulfate N-deacetylase 1.				carbohydrate metabolic process (GO:0005975)|embryonic neurocranium morphogenesis (GO:0048702)|embryonic viscerocranium morphogenesis (GO:0048703)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain development (GO:0030900)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparin biosynthetic process (GO:0030210)|inflammatory response (GO:0006954)|MAPK cascade (GO:0000165)|midbrain development (GO:0030901)|polysaccharide biosynthetic process (GO:0000271)|respiratory gaseous exchange (GO:0007585)|small molecule metabolic process (GO:0044281)|smoothened signaling pathway (GO:0007224)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine N-sulfotransferase activity (GO:0015016)|deacetylase activity (GO:0019213)			breast(2)|central_nervous_system(3)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	34		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AGGTGGAGGACGTGAAGGTAT	0.622																																						ENST00000261797.6																			0				breast(2)|central_nervous_system(3)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	34						c.(1000-1002)gaC>gaT		N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 1		C		1,4405	2.1+/-5.4	0,1,2202	54	52	52		1002	-3.3	0.9	5	dbSNP_134	52	1,8597	1.2+/-3.3	0,1,4298	no	coding-synonymous	NDST1	NM_001543.4		0,2,6500	TT,TC,CC		0.0116,0.0227,0.0154		334/883	149907854	2,13002	2203	4299	6502	SO:0001819	synonymous_variant	3340				heparan sulfate proteoglycan biosynthetic process|inflammatory response	Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity	g.chr5:149907854C>T	U18918	CCDS34277.1, CCDS75358.1	5q33.1	2008-02-05				ENSG00000070614		"Sulfotransferases, membrane-bound"	7680	protein-coding gene	gene with protein product		600853		HSST		7601448, 9230113	Standard	NM_001543		Approved	NST1	uc003lsk.4	P52848		ENST00000261797.6:c.1002C>T	5.37:g.149907854C>T						NDST1_ENST00000523767.1_Silent_p.D334D	p.D334D	NM_001543.4	NP_001534.1	P52848	NDST1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		3	1504	+		all_hematologic(541;0.224)	334			Heparan sulfate N-deacetylase 1.		Q96E57	Silent	SNP	ENST00000261797.6	37	c.1002C>T	CCDS34277.1																																																																																				0.622	NDST1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374314.2	NM_001543		17	22	0	0	0	1	0	17	22					T	149907854	C	T	149907854	2	4	435	1	0	0	0	0	0	0	0	1	10255	535	19	1		1	NDST1	5	149907854	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	230185	149907854	31007406	2916	23841											
SYNPO	11346	broad.mit.edu	37	chr5	150028074	150028074	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cttgcctcgcccagtgccacGctcaccacaccaacttctaa	9	8	5	19	2	2	0	1	0	1	0	3	0	2	0	5	0	3	1	5	0	2	3	rs555455244		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:150028074G>A	ENST00000394243.1	+	3	1343	c.969G>A	c.(967-969)acG>acA	p.T323T	SYNPO_ENST00000307662.4_Silent_p.T79T|SYNPO_ENST00000518872.1_3'UTR|SYNPO_ENST00000519664.1_Silent_p.T79T|SYNPO_ENST00000522122.1_Silent_p.T323T	NM_001166208.1	NP_001159680.1	Q8N3V7	SYNPO_HUMAN	synaptopodin	323					positive regulation of actin filament bundle assembly (GO:0032233)|regulation of stress fiber assembly (GO:0051492)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|postsynaptic membrane (GO:0045211)|stress fiber (GO:0001725)|tight junction (GO:0005923)	actin binding (GO:0003779)			NS(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(4)|prostate(1)|urinary_tract(2)	18		Medulloblastoma(196;0.134)|all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CCAGTGCCACGCTCACCACAC	0.592													G|||	1	0.000199681	8e-04	0	5008	,	,		16429	0		0	False		,,,				2504	0					ENST00000394243.1																			0				NS(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(4)|prostate(1)|urinary_tract(2)	18						c.(967-969)acG>acA		synaptopodin							178	153	161					5																	150028074		2203	4300	6503	SO:0001819	synonymous_variant	11346				positive regulation of actin filament bundle assembly|regulation of stress fiber assembly	actin cytoskeleton|cytoplasm|dendritic spine|perikaryon|postsynaptic density|postsynaptic membrane|tight junction	actin binding|protein binding	g.chr5:150028074G>A	AF499137	CCDS4308.1, CCDS54937.1, CCDS54938.1	5q33.1	2008-02-05			ENSG00000171992	ENSG00000171992			30672	protein-coding gene	gene with protein product		608155				9314539, 10470851	Standard	NM_007286		Approved	KIAA1029	uc003lsn.3	Q8N3V7	OTTHUMG00000130078	ENST00000394243.1:c.969G>A	5.37:g.150028074G>A						SYNPO_ENST00000522122.1_Silent_p.T323T|SYNPO_ENST00000518872.1_3'UTR|SYNPO_ENST00000307662.4_Silent_p.T79T|SYNPO_ENST00000519664.1_Silent_p.T79T	p.T323T	NM_001166208.1	NP_001159680.1	Q8N3V7	SYNPO_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		3	1343	+		Medulloblastoma(196;0.134)|all_hematologic(541;0.224)	323					A5PKZ8|D3DQG8|O15271|Q9UPX1	Silent	SNP	ENST00000394243.1	37	c.969G>A	CCDS54937.1																																																																																				0.592	SYNPO-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252371.1	NM_007286		7	78	0	0	0	1	0	7	78					A	150028074	G	A	150028074	2	1	435	1	0	0	0	0	0	0	0	1	15453	1074	38	1		1	SYNPO	5	150028074	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	120220	150028074	30887186	2917	23842											
SYNPO	11346	broad.mit.edu	37	chr5	150029259	150029259	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aaacccaaccagaacctctcCgaggcctctgggaagggagc	12	4	11	14	1	2	1	0	0	2	1	3	4	2	3	5	3	4	0	5	3	4	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:150029259C>T	ENST00000394243.1	+	3	2528	c.2154C>T	c.(2152-2154)tcC>tcT	p.S718S	SYNPO_ENST00000307662.4_Silent_p.S474S|SYNPO_ENST00000519664.1_Silent_p.S474S|SYNPO_ENST00000522122.1_Silent_p.S718S	NM_001166208.1	NP_001159680.1	Q8N3V7	SYNPO_HUMAN	synaptopodin	718					positive regulation of actin filament bundle assembly (GO:0032233)|regulation of stress fiber assembly (GO:0051492)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|postsynaptic membrane (GO:0045211)|stress fiber (GO:0001725)|tight junction (GO:0005923)	actin binding (GO:0003779)			NS(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(4)|prostate(1)|urinary_tract(2)	18		Medulloblastoma(196;0.134)|all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AGAACCTCTCCGAGGCCTCTG	0.652																																						ENST00000394243.1																			0				NS(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(4)|prostate(1)|urinary_tract(2)	18						c.(2152-2154)tcC>tcT		synaptopodin							39	44	42					5																	150029259		2203	4300	6503	SO:0001819	synonymous_variant	11346				positive regulation of actin filament bundle assembly|regulation of stress fiber assembly	actin cytoskeleton|cytoplasm|dendritic spine|perikaryon|postsynaptic density|postsynaptic membrane|tight junction	actin binding|protein binding	g.chr5:150029259C>T	AF499137	CCDS4308.1, CCDS54937.1, CCDS54938.1	5q33.1	2008-02-05			ENSG00000171992	ENSG00000171992			30672	protein-coding gene	gene with protein product		608155				9314539, 10470851	Standard	NM_007286		Approved	KIAA1029	uc003lsn.3	Q8N3V7	OTTHUMG00000130078	ENST00000394243.1:c.2154C>T	5.37:g.150029259C>T						SYNPO_ENST00000522122.1_Silent_p.S718S|SYNPO_ENST00000307662.4_Silent_p.S474S|SYNPO_ENST00000519664.1_Silent_p.S474S	p.S718S	NM_001166208.1	NP_001159680.1	Q8N3V7	SYNPO_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		3	2528	+		Medulloblastoma(196;0.134)|all_hematologic(541;0.224)	718					A5PKZ8|D3DQG8|O15271|Q9UPX1	Silent	SNP	ENST00000394243.1	37	c.2154C>T	CCDS54937.1																																																																																				0.652	SYNPO-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252371.1	NM_007286		6	15	0	0	0	1	0	6	15					T	150029259	C	T	150029259	2	4	435	1	0	0	0	0	0	0	0	1	15453	639	23	2		2	SYNPO	5	150029259	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	1185	150029259	30886001	2918	23843											
TNIP1	10318	broad.mit.edu	37	chr5	150436423	150436423	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggtgggtgaagagctggccGtggtccggctcctcggcaca	6	7	17	11	3	0	2	0	1	0	1	3	2	2	2	3	6	1	3	3	6	1	0	rs376731584		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:150436423G>A	ENST00000389378.2	-	6	1119	c.531C>T	c.(529-531)caC>caT	p.H177H	TNIP1_ENST00000523338.1_Silent_p.H177H|TNIP1_ENST00000521591.1_Silent_p.H177H|TNIP1_ENST00000524280.1_Silent_p.H177H|TNIP1_ENST00000520931.1_Silent_p.H124H|TNIP1_ENST00000518977.1_Silent_p.H177H|TNIP1_ENST00000522226.1_Silent_p.H177H|TNIP1_ENST00000315050.7_Silent_p.H177H|TNIP1_ENST00000523200.1_Silent_p.H177H	NM_001252385.1|NM_001252393.1|NM_001258454.1|NM_006058.4	NP_001239314.1|NP_001239322.1|NP_001245383.1|NP_006049.3	Q15025	TNIP1_HUMAN	TNFAIP3 interacting protein 1	177	Interacts with Nef.				defense response (GO:0006952)|glycoprotein biosynthetic process (GO:0009101)|inflammatory response (GO:0006954)|leukocyte cell-cell adhesion (GO:0007159)|modulation by symbiont of host I-kappaB kinase/NF-kappaB cascade (GO:0085032)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of viral genome replication (GO:0045071)|positive regulation of inflammatory response (GO:0050729)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|translation (GO:0006412)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634)	mitogen-activated protein kinase binding (GO:0051019)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(1)|lung(5)|ovary(2)|prostate(2)|skin(3)	23		Medulloblastoma(196;0.0911)|all_hematologic(541;0.207)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AGAGCTGGCCGTGGTCCGGCT	0.657																																						ENST00000389378.2																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(1)|lung(5)|ovary(2)|prostate(2)|skin(3)	23						c.(529-531)caC>caT		TNFAIP3 interacting protein 1		G		1,4405	2.1+/-5.4	0,1,2202	40	40	40		531	3.2	1	5		40	0,8600		0,0,4300	no	coding-synonymous	TNIP1	NM_006058.3		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		177/637	150436423	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	10318				defense response|glycoprotein biosynthetic process|negative regulation of viral genome replication|translation	cytoplasm|nucleus	protein binding	g.chr5:150436423G>A	AJ011895	CCDS34280.1, CCDS58982.1, CCDS58983.1, CCDS58984.1, CCDS58985.1, CCDS75359.1	5q32-q33.1	2008-07-18							16903	protein-coding gene	gene with protein product	"virion-associated nuclear-shuttling protein", "Nef-associated factor 1 SNP"	607714				9923610, 11090181	Standard	NM_001252385		Approved	NAF1, KIAA0113, ABIN-1, VAN	uc003ltj.3	Q15025		ENST00000389378.2:c.531C>T	5.37:g.150436423G>A						TNIP1_ENST00000523338.1_Silent_p.H177H|TNIP1_ENST00000520931.1_Silent_p.H124H|TNIP1_ENST00000521591.1_Silent_p.H177H|TNIP1_ENST00000524280.1_Silent_p.H177H|TNIP1_ENST00000522226.1_Silent_p.H177H|TNIP1_ENST00000518977.1_Silent_p.H177H|TNIP1_ENST00000315050.7_Silent_p.H177H|TNIP1_ENST00000523200.1_Silent_p.H177H	p.H177H	NM_001252385.1|NM_001252393.1|NM_001258454.1|NM_006058.4	NP_001239314.1|NP_001239322.1|NP_001245383.1|NP_006049.3	Q15025	TNIP1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		6	1119	-		Medulloblastoma(196;0.0911)|all_hematologic(541;0.207)	177			Interacts with Nef.		A4F1W8|A4F1W9|A4F1X2|A4F1X4|A4F1X5|A4F1X6|A4F1X7|A4F1X9|B7Z699|E7EPY1|E7ET96|O76008|Q05KP3|Q05KP4|Q6N077|Q96EL9|Q99833|Q9H1J3	Silent	SNP	ENST00000389378.2	37	c.531C>T	CCDS34280.1																																																																																				0.657	TNIP1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374914.1	NM_006058		22	19	0	0	0	1	0	22	19					A	150436423	G	A	150436423	2	1	435	1	0	0	0	0	0	0	0	1	16311	1136	40	1		1	TNIP1	5	150436423	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	407164	150436423	30478837	2919	23844											
TNIP1	10318	broad.mit.edu	37	chr5	150439883	150439883	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgcccgtccactcaccatcGcattggcatggctgctgctc	5	10	9	17	2	1	0	1	0	0	0	4	0	2	0	3	2	3	5	3	2	0	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:150439883G>A	ENST00000389378.2	-	5	1019	c.431C>T	c.(430-432)gCg>gTg	p.A144V	TNIP1_ENST00000523338.1_Missense_Mutation_p.A144V|TNIP1_ENST00000521591.1_Missense_Mutation_p.A144V|TNIP1_ENST00000524280.1_Missense_Mutation_p.A144V|TNIP1_ENST00000520931.1_Missense_Mutation_p.A91V|TNIP1_ENST00000518977.1_Missense_Mutation_p.A144V|TNIP1_ENST00000522226.1_Missense_Mutation_p.A144V|TNIP1_ENST00000315050.7_Missense_Mutation_p.A144V|TNIP1_ENST00000523200.1_Missense_Mutation_p.A144V	NM_001252385.1|NM_001252393.1|NM_001258454.1|NM_006058.4	NP_001239314.1|NP_001239322.1|NP_001245383.1|NP_006049.3	Q15025	TNIP1_HUMAN	TNFAIP3 interacting protein 1	144	Interacts with Nef.				defense response (GO:0006952)|glycoprotein biosynthetic process (GO:0009101)|inflammatory response (GO:0006954)|leukocyte cell-cell adhesion (GO:0007159)|modulation by symbiont of host I-kappaB kinase/NF-kappaB cascade (GO:0085032)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of viral genome replication (GO:0045071)|positive regulation of inflammatory response (GO:0050729)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|translation (GO:0006412)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634)	mitogen-activated protein kinase binding (GO:0051019)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(1)|lung(5)|ovary(2)|prostate(2)|skin(3)	23		Medulloblastoma(196;0.0911)|all_hematologic(541;0.207)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ACTCACCATCGCATTGGCATG	0.562																																						ENST00000389378.2																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(1)|lung(5)|ovary(2)|prostate(2)|skin(3)	23						c.(430-432)gCg>gTg		TNFAIP3 interacting protein 1							82	77	79					5																	150439883		2203	4300	6503	SO:0001583	missense	10318				defense response|glycoprotein biosynthetic process|negative regulation of viral genome replication|translation	cytoplasm|nucleus	protein binding	g.chr5:150439883G>A	AJ011895	CCDS34280.1, CCDS58982.1, CCDS58983.1, CCDS58984.1, CCDS58985.1, CCDS75359.1	5q32-q33.1	2008-07-18							16903	protein-coding gene	gene with protein product	"virion-associated nuclear-shuttling protein", "Nef-associated factor 1 SNP"	607714				9923610, 11090181	Standard	NM_001252385		Approved	NAF1, KIAA0113, ABIN-1, VAN	uc003ltj.3	Q15025		ENST00000389378.2:c.431C>T	5.37:g.150439883G>A	ENSP00000374029:p.Ala144Val					TNIP1_ENST00000523338.1_Missense_Mutation_p.A144V|TNIP1_ENST00000520931.1_Missense_Mutation_p.A91V|TNIP1_ENST00000521591.1_Missense_Mutation_p.A144V|TNIP1_ENST00000524280.1_Missense_Mutation_p.A144V|TNIP1_ENST00000522226.1_Missense_Mutation_p.A144V|TNIP1_ENST00000518977.1_Missense_Mutation_p.A144V|TNIP1_ENST00000315050.7_Missense_Mutation_p.A144V|TNIP1_ENST00000523200.1_Missense_Mutation_p.A144V	p.A144V	NM_001252385.1|NM_001252393.1|NM_001258454.1|NM_006058.4	NP_001239314.1|NP_001239322.1|NP_001245383.1|NP_006049.3	Q15025	TNIP1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		5	1019	-		Medulloblastoma(196;0.0911)|all_hematologic(541;0.207)	144			Interacts with Nef.		A4F1W8|A4F1W9|A4F1X2|A4F1X4|A4F1X5|A4F1X6|A4F1X7|A4F1X9|B7Z699|E7EPY1|E7ET96|O76008|Q05KP3|Q05KP4|Q6N077|Q96EL9|Q99833|Q9H1J3	Missense_Mutation	SNP	ENST00000389378.2	37	c.431C>T	CCDS34280.1	.	.	.	.	.	.	.	.	.	.	G	9.166	1.020027	0.19433	.	.	ENSG00000145901	ENST00000520931;ENST00000389378;ENST00000315050;ENST00000523338;ENST00000544828;ENST00000417127;ENST00000539213;ENST00000522226;ENST00000521591;ENST00000518977;ENST00000524280;ENST00000523200;ENST00000545840;ENST00000522100	T;T;T;T;T;T;T;T;T;T	0.13196	2.82;2.82;2.82;2.82;2.82;2.82;2.82;2.82;2.83;2.61	5.24	-2.63	0.06133	.	1.599960	0.03137	N	0.166100	T	0.06142	0.0159	N	0.08118	0	0.09310	N	1	B;B;B;B;B;B;B	0.10296	0.002;0.002;0.003;0.002;0.0;0.001;0.001	B;B;B;B;B;B;B	0.06405	0.001;0.002;0.002;0.002;0.0;0.0;0.001	T	0.26189	-1.0110	10	0.29301	T	0.29	3.2682	1.7587	0.02987	0.2908:0.1029:0.3954:0.2109	.	144;98;98;144;144;144;144	B7Z8K2;A4F1X9;A4F1X7;E7EPY1;E7ET96;A4F1W9;Q15025	.;.;.;.;.;.;TNIP1_HUMAN	V	91;144;144;144;101;101;106;144;144;144;144;144;101;91	ENSP00000429891:A91V;ENSP00000374029:A144V;ENSP00000317891:A144V;ENSP00000428243:A144V;ENSP00000428187:A144V;ENSP00000430760:A144V;ENSP00000430971:A144V;ENSP00000429912:A144V;ENSP00000431105:A144V;ENSP00000428487:A91V	ENSP00000317891:A144V	A	-	2	0	TNIP1	150420076	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.441000	0.06879	-0.851000	0.04147	-1.966000	0.00469	GCG		0.562	TNIP1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374914.1	NM_006058		11	23	0	0	0	1	0	11	23					A	150439883	G	A	150439883	3	1	435	1	0	0	0	0	1	0	0	0	16311	1087	38	1	1535	1	TNIP1	5	150439883	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	3460	150439883	30475377	2920	23845											
SLC36A2	153201	broad.mit.edu	37	chr5	150718707	150718707	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gaagaagctcacgatatgccTagaagggagaagagagggaa	17	4	15	5	1	1	4	1	0	0	4	1	9	1	5	1	2	2	1	1	2	7	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:150718707T>C	ENST00000335244.4	-	5	570		c.e5-2		SLC36A2_ENST00000521967.1_Splice_Site	NM_181776.2	NP_861441.2	Q495M3	S36A2_HUMAN	solute carrier family 36 (proton/amino acid symporter), member 2						amino acid transport (GO:0006865)|ion transport (GO:0006811)|proline transmembrane transport (GO:0035524)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	glycine transmembrane transporter activity (GO:0015187)|hydrogen:amino acid symporter activity (GO:0005280)|L-alanine transmembrane transporter activity (GO:0015180)|L-proline transmembrane transporter activity (GO:0015193)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(14)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	33		Medulloblastoma(196;0.109)|all_hematologic(541;0.243)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Cycloserine(DB00260)	ACGATATGCCTAGAAGGGAGA	0.408																																						ENST00000335244.4																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(14)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	33						c.e5-2		solute carrier family 36 (proton/amino acid symporter), member 2							103	102	103					5																	150718707		2203	4300	6503	SO:0001630	splice_region_variant	153201				cellular nitrogen compound metabolic process	cytoplasm|integral to membrane|plasma membrane	glycine transmembrane transporter activity	g.chr5:150718707T>C	AY162214	CCDS4315.1	5q33.1	2013-05-22			ENSG00000186335	ENSG00000186335		"Solute carriers"	18762	protein-coding gene	gene with protein product		608331				11959859	Standard	NM_181776		Approved	PAT2, tramdorin, TRAMD1	uc003lty.3	Q495M3	OTTHUMG00000130129	ENST00000335244.4:c.441-2A>G	5.37:g.150718707T>C						SLC36A2_ENST00000521967.1_Splice_Site		NM_181776.2	NP_861441.2	Q495M3	S36A2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		5	570	-		Medulloblastoma(196;0.109)|all_hematologic(541;0.243)						Q495M4|Q495M6|Q6ZWK5|Q7Z6B5	Splice_Site	SNP	ENST00000335244.4	37		CCDS4315.1	.	.	.	.	.	.	.	.	.	.	T	22.1	4.238785	0.79800	.	.	ENSG00000186335	ENST00000335244;ENST00000521967	.	.	.	4.23	4.23	0.50019	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.4851	0.61359	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	SLC36A2	150698900	1.000000	0.71417	0.169000	0.22859	0.730000	0.41778	7.218000	0.77991	1.914000	0.55421	0.378000	0.23410	.		0.408	SLC36A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252437.1		Intron	29	39	0	0	0	1	0	29	39					C	150718707	T	C	150718707	5	2	435	1	0	0	0	0	0	0	1	0	14594	1536	53	4	1036	4	SLC36A2	5	150718707	Splice_Site	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	278824	150718707	30196553	2921	23846											
SLC36A2	153201	broad.mit.edu	37	chr5	150723083	150723083	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttcctcacctcttacagaagCgctgggcacacttgaccagg	9	9	9	14	1	2	2	1	1	1	1	3	2	3	2	3	2	2	2	3	2	2	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:150723083C>T	ENST00000335244.4	-	3	461	c.332G>A	c.(331-333)cGc>cAc	p.R111H	SLC36A2_ENST00000521967.1_Missense_Mutation_p.R111H	NM_181776.2	NP_861441.2	Q495M3	S36A2_HUMAN	solute carrier family 36 (proton/amino acid symporter), member 2	111					amino acid transport (GO:0006865)|ion transport (GO:0006811)|proline transmembrane transport (GO:0035524)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	glycine transmembrane transporter activity (GO:0015187)|hydrogen:amino acid symporter activity (GO:0005280)|L-alanine transmembrane transporter activity (GO:0015180)|L-proline transmembrane transporter activity (GO:0015193)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(14)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	33		Medulloblastoma(196;0.109)|all_hematologic(541;0.243)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Cycloserine(DB00260)	CTTACAGAAGCGCTGGGCACA	0.517																																						ENST00000335244.4																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(14)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	33						c.(331-333)cGc>cAc		solute carrier family 36 (proton/amino acid symporter), member 2							112	111	111					5																	150723083		2203	4300	6503	SO:0001583	missense	153201				cellular nitrogen compound metabolic process	cytoplasm|integral to membrane|plasma membrane	glycine transmembrane transporter activity	g.chr5:150723083C>T	AY162214	CCDS4315.1	5q33.1	2013-05-22			ENSG00000186335	ENSG00000186335		"Solute carriers"	18762	protein-coding gene	gene with protein product		608331				11959859	Standard	NM_181776		Approved	PAT2, tramdorin, TRAMD1	uc003lty.3	Q495M3	OTTHUMG00000130129	ENST00000335244.4:c.332G>A	5.37:g.150723083C>T	ENSP00000334223:p.Arg111His					SLC36A2_ENST00000521967.1_Missense_Mutation_p.R111H	p.R111H	NM_181776.2	NP_861441.2	Q495M3	S36A2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		3	461	-		Medulloblastoma(196;0.109)|all_hematologic(541;0.243)	111					Q495M4|Q495M6|Q6ZWK5|Q7Z6B5	Missense_Mutation	SNP	ENST00000335244.4	37	c.332G>A	CCDS4315.1	.	.	.	.	.	.	.	.	.	.	C	1.147	-0.647843	0.03506	.	.	ENSG00000186335	ENST00000335244;ENST00000521967	T;T	0.02177	4.41;4.41	4.6	-1.86	0.07760	.	0.293913	0.38897	N	0.001529	T	0.00875	0.0029	N	0.01640	-0.785	0.80722	D	1	B;B;B	0.12630	0.006;0.0;0.0	B;B;B	0.14023	0.01;0.002;0.002	T	0.55328	-0.8158	10	0.12103	T	0.63	-7.8215	11.2297	0.48905	0.0:0.2036:0.0:0.7964	.	111;111;111	B4DMY0;E5RJJ5;Q495M3	.;.;S36A2_HUMAN	H	111	ENSP00000334223:R111H;ENSP00000430535:R111H	ENSP00000334223:R111H	R	-	2	0	SLC36A2	150703276	1.000000	0.71417	0.824000	0.32777	0.578000	0.36192	1.291000	0.33330	-0.320000	0.08640	0.591000	0.81541	CGC		0.517	SLC36A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252437.1			13	30	0	0	0	1	0	13	30					T	150723083	C	T	150723083	3	4	435	1	0	0	0	0	1	0	0	0	14594	768	27	1	1151	1	SLC36A2	5	150723083	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	4376	150723083	30192177	2922	23847											
SLC36A1	206358	broad.mit.edu	37	chr5	150847345	150847345	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgacgcctaccatggactcGcgactctacatgctctcctt	7	11	7	16	3	2	1	0	1	2	0	4	3	2	2	3	1	3	1	3	1	2	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:150847345G>A	ENST00000243389.3	+	7	805	c.582G>A	c.(580-582)tcG>tcA	p.S194S	SLC36A1_ENST00000429484.2_Silent_p.S194S|SLC36A1_ENST00000521925.1_Silent_p.S194S|SLC36A1_ENST00000520701.1_Silent_p.S194S	NM_078483.2	NP_510968.2	Q7Z2H8	S36A1_HUMAN	solute carrier family 36 (proton/amino acid symporter), member 1	194					amino acid transport (GO:0006865)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	glycine transmembrane transporter activity (GO:0015187)|hydrogen ion transmembrane transporter activity (GO:0015078)|L-alanine transmembrane transporter activity (GO:0015180)|L-proline transmembrane transporter activity (GO:0015193)|symporter activity (GO:0015293)			endometrium(5)|kidney(9)|lung(8)|skin(2)|urinary_tract(1)	25		Medulloblastoma(196;0.091)|all_hematologic(541;0.103)|all_neural(839;0.138)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Acamprosate(DB00659)|Glycine(DB00145)|Hydroxyproline(DB08847)|L-Alanine(DB00160)|Spaglumic Acid(DB08835)|Vigabatrin(DB01080)	CCATGGACTCGCGACTCTACA	0.532																																					Melanoma(151;1534 1860 12947 32979 37872)	ENST00000243389.3																			0				endometrium(5)|kidney(9)|lung(8)|skin(2)|urinary_tract(1)	25						c.(580-582)tcG>tcA		solute carrier family 36 (proton/amino acid symporter), member 1	Glycine(DB00145)|L-Alanine(DB00160)						288	252	264					5																	150847345		2203	4300	6503	SO:0001819	synonymous_variant	206358				cellular nitrogen compound metabolic process|ion transport	endoplasmic reticulum|integral to membrane|lysosomal membrane|plasma membrane	amino acid transmembrane transporter activity|symporter activity	g.chr5:150847345G>A	AK057340	CCDS4316.1	5q33.1	2013-05-22			ENSG00000123643	ENSG00000123643		"Solute carriers"	18761	protein-coding gene	gene with protein product		606561				11959859, 11390972	Standard	NM_078483		Approved	LYAAT-1, PAT1, TRAMD3	uc003luc.3	Q7Z2H8	OTTHUMG00000130125	ENST00000243389.3:c.582G>A	5.37:g.150847345G>A						SLC36A1_ENST00000429484.2_Silent_p.S194S|SLC36A1_ENST00000520701.1_Silent_p.S194S|SLC36A1_ENST00000521925.1_Silent_p.S194S	p.S194S	NM_078483.2	NP_510968.2	Q7Z2H8	S36A1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		7	805	+		Medulloblastoma(196;0.091)|all_hematologic(541;0.103)|all_neural(839;0.138)	194					C9JI34|Q1LZ56|Q7Z7C0|Q86YK4|Q96M74	Silent	SNP	ENST00000243389.3	37	c.582G>A	CCDS4316.1																																																																																				0.532	SLC36A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252433.1	NM_078483		39	31	0	0	0	1	0	39	31					A	150847345	G	A	150847345	2	1	435	1	0	0	0	0	0	0	0	1	14593	1074	38	1		1	SLC36A1	5	150847345	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	124262	150847345	30067915	2923	23848											
SLC36A1	206358	broad.mit.edu	37	chr5	150867696	150867696	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctcaccatctttaaggacGccctgatcagcatcctgggc	8	9	8	16	1	3	1	2	1	1	0	4	2	4	2	4	2	1	1	4	2	1	2	rs373055649		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:150867696G>A	ENST00000243389.3	+	11	1535	c.1312G>A	c.(1312-1314)Gcc>Acc	p.A438T	SLC36A1_ENST00000520701.1_Missense_Mutation_p.A438T	NM_078483.2	NP_510968.2	Q7Z2H8	S36A1_HUMAN	solute carrier family 36 (proton/amino acid symporter), member 1	438					amino acid transport (GO:0006865)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	glycine transmembrane transporter activity (GO:0015187)|hydrogen ion transmembrane transporter activity (GO:0015078)|L-alanine transmembrane transporter activity (GO:0015180)|L-proline transmembrane transporter activity (GO:0015193)|symporter activity (GO:0015293)			endometrium(5)|kidney(9)|lung(8)|skin(2)|urinary_tract(1)	25		Medulloblastoma(196;0.091)|all_hematologic(541;0.103)|all_neural(839;0.138)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Acamprosate(DB00659)|Glycine(DB00145)|Hydroxyproline(DB08847)|L-Alanine(DB00160)|Spaglumic Acid(DB08835)|Vigabatrin(DB01080)	CTTTAAGGACGCCCTGATCAG	0.582													G|||	1	0.000199681	8e-04	0	5008	,	,		19678	0		0	False		,,,				2504	0				Melanoma(151;1534 1860 12947 32979 37872)	ENST00000243389.3																			0				endometrium(5)|kidney(9)|lung(8)|skin(2)|urinary_tract(1)	25						c.(1312-1314)Gcc>Acc		solute carrier family 36 (proton/amino acid symporter), member 1	Glycine(DB00145)|L-Alanine(DB00160)	G	THR/ALA	1,4405	2.1+/-5.4	0,1,2202	98	86	90		1312	3.7	1	5		90	0,8600		0,0,4300	no	missense	SLC36A1	NM_078483.2	58	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	438/477	150867696	1,13005	2203	4300	6503	SO:0001583	missense	206358				cellular nitrogen compound metabolic process|ion transport	endoplasmic reticulum|integral to membrane|lysosomal membrane|plasma membrane	amino acid transmembrane transporter activity|symporter activity	g.chr5:150867696G>A	AK057340	CCDS4316.1	5q33.1	2013-05-22			ENSG00000123643	ENSG00000123643		"Solute carriers"	18761	protein-coding gene	gene with protein product		606561				11959859, 11390972	Standard	NM_078483		Approved	LYAAT-1, PAT1, TRAMD3	uc003luc.3	Q7Z2H8	OTTHUMG00000130125	ENST00000243389.3:c.1312G>A	5.37:g.150867696G>A	ENSP00000243389:p.Ala438Thr					SLC36A1_ENST00000520701.1_Missense_Mutation_p.A438T	p.A438T	NM_078483.2	NP_510968.2	Q7Z2H8	S36A1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		11	1535	+		Medulloblastoma(196;0.091)|all_hematologic(541;0.103)|all_neural(839;0.138)	438					C9JI34|Q1LZ56|Q7Z7C0|Q86YK4|Q96M74	Missense_Mutation	SNP	ENST00000243389.3	37	c.1312G>A	CCDS4316.1	.	.	.	.	.	.	.	.	.	.	G	15.05	2.718881	0.48622	2.27E-4	0.0	ENSG00000123643	ENST00000520701;ENST00000243389	T;T	0.02197	4.4;4.4	5.53	3.65	0.41850	.	0.187141	0.46145	D	0.000319	T	0.01661	0.0053	N	0.17594	0.5	0.80722	D	1	B	0.19200	0.034	B	0.16289	0.015	T	0.53676	-0.8405	10	0.59425	D	0.04	.	6.695	0.23193	0.2127:0.154:0.6334:0.0	.	438	Q7Z2H8	S36A1_HUMAN	T	438	ENSP00000428140:A438T;ENSP00000243389:A438T	ENSP00000243389:A438T	A	+	1	0	SLC36A1	150847889	0.756000	0.28383	1.000000	0.80357	0.734000	0.41952	0.230000	0.17852	2.593000	0.87608	0.455000	0.32223	GCC		0.582	SLC36A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252433.1	NM_078483		14	28	0	0	0	1	0	14	28					A	150867696	G	A	150867696	3	1	435	1	0	0	0	0	1	0	0	0	14593	1087	38	1	1350	1	SLC36A1	5	150867696	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	20351	150867696	30047564	2924	23849											
FAT2	2196	broad.mit.edu	37	chr5	150887067	150887067	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cttatgataatgaacgccacGgccactgtgatgatcagtaa	13	10	9	9	2	1	4	1	4	0	0	1	4	1	4	2	1	1	1	2	1	4	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:150887067G>A	ENST00000261800.5	-	22	12177	c.12165C>T	c.(12163-12165)gcC>gcT	p.A4055A	CTC-251D13.1_ENST00000606930.1_RNA	NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	4055					epithelial cell migration (GO:0010631)|homophilic cell adhesion (GO:0007156)	cell-cell adherens junction (GO:0005913)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TGAACGCCACGGCCACTGTGA	0.572																																						ENST00000261800.5																			0				NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196						c.(12163-12165)gcC>gcT		FAT atypical cadherin 2							61	60	61					5																	150887067		2203	4300	6503	SO:0001819	synonymous_variant	2196				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding	g.chr5:150887067G>A	AF231022	CCDS4317.1	5q33.1	2014-07-21	2013-05-31		ENSG00000086570	ENSG00000086570		"Cadherins / Cadherin-related"	3596	protein-coding gene	gene with protein product	"cadherin-related family member 9"	604269	"FAT tumor suppressor (Drosophila) homolog 2", "FAT tumor suppressor homolog 2 (Drosophila)"			9693030	Standard	NM_001447		Approved	MEGF1, CDHF8, HFAT2, CDHR9	uc003lue.4	Q9NYQ8	OTTHUMG00000130126	ENST00000261800.5:c.12165C>T	5.37:g.150887067G>A							p.A4055A	NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		22	12177	-		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	4055					O75091|Q9NSR7	Silent	SNP	ENST00000261800.5	37	c.12165C>T	CCDS4317.1	.	.	.	.	.	.	.	.	.	.	G	4.972	0.180608	0.09443	.	.	ENSG00000086570	ENST00000520200	.	.	.	5.46	-0.615	0.11587	.	.	.	.	.	T	0.34716	0.0907	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.34900	-0.9810	4	.	.	.	.	9.9987	0.41916	0.0:0.21:0.2904:0.4996	.	.	.	.	C	828	.	.	R	-	1	0	FAT2	150867260	0.000000	0.05858	0.001000	0.08648	0.004000	0.04260	0.105000	0.15333	0.168000	0.19655	-0.152000	0.13540	CGT		0.572	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252434.1	NM_001447		27	32	0	0	0	1	0	27	32					A	150887067	G	A	150887067	2	1	435	1	0	0	0	0	0	0	0	1	5690	1103	39	2		2	FAT2	5	150887067	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	19371	150887067	30028193	2925	23850											
FAT2	2196	broad.mit.edu	37	chr5	150901351	150901351	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtcccatcgctgaccgtgacGttgaacgagtagtggccacg	8	8	13	12	5	0	3	0	3	0	0	2	4	1	3	3	1	1	3	3	1	2	2	rs567656113		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:150901351G>A	ENST00000261800.5	-	18	10815	c.10803C>T	c.(10801-10803)aaC>aaT	p.N3601N		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	3601	Cadherin 32. {ECO:0000255|PROSITE- ProRule:PRU00043}.				epithelial cell migration (GO:0010631)|homophilic cell adhesion (GO:0007156)	cell-cell adherens junction (GO:0005913)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TGACCGTGACGTTGAACGAGT	0.627													G|||	1	0.000199681	0	0.0014	5008	,	,		22460	0		0	False		,,,				2504	0					ENST00000261800.5																			0				NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196						c.(10801-10803)aaC>aaT		FAT atypical cadherin 2							55	44	48					5																	150901351		2203	4300	6503	SO:0001819	synonymous_variant	2196				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding	g.chr5:150901351G>A	AF231022	CCDS4317.1	5q33.1	2014-07-21	2013-05-31		ENSG00000086570	ENSG00000086570		"Cadherins / Cadherin-related"	3596	protein-coding gene	gene with protein product	"cadherin-related family member 9"	604269	"FAT tumor suppressor (Drosophila) homolog 2", "FAT tumor suppressor homolog 2 (Drosophila)"			9693030	Standard	NM_001447		Approved	MEGF1, CDHF8, HFAT2, CDHR9	uc003lue.4	Q9NYQ8	OTTHUMG00000130126	ENST00000261800.5:c.10803C>T	5.37:g.150901351G>A							p.N3601N	NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		18	10815	-		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	3601			Cadherin 32.		O75091|Q9NSR7	Silent	SNP	ENST00000261800.5	37	c.10803C>T	CCDS4317.1	.	.	.	.	.	.	.	.	.	.	G	3.808	-0.040404	0.07497	.	.	ENSG00000086570	ENST00000520200	.	.	.	5.68	-1.45	0.08828	.	.	.	.	.	T	0.57932	0.2087	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.52396	-0.8581	4	.	.	.	.	11.6192	0.51108	0.5128:0.0:0.4872:0.0	.	.	.	.	C	460	.	.	R	-	1	0	FAT2	150881544	0.015000	0.18098	0.644000	0.29465	0.492000	0.33523	-1.019000	0.03622	-0.680000	0.05211	-0.217000	0.12591	CGT		0.627	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252434.1	NM_001447		7	17	0	0	0	1	0	7	17					A	150901351	G	A	150901351	2	1	435	1	0	0	0	0	0	0	0	1	5690	1136	40	1		1	FAT2	5	150901351	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	14284	150901351	30013909	2926	23851											
FAT2	2196	broad.mit.edu	37	chr5	150945295	150945295	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcacgcaggaagtactggagCtccccatccaagccactgtc	10	6	10	15	1	0	0	0	0	0	0	3	2	2	2	4	2	3	4	4	2	3	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:150945295C>T	ENST00000261800.5	-	1	3210	c.3198G>A	c.(3196-3198)gaG>gaA	p.E1066E		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	1066	Cadherin 9. {ECO:0000255|PROSITE- ProRule:PRU00043}.				epithelial cell migration (GO:0010631)|homophilic cell adhesion (GO:0007156)	cell-cell adherens junction (GO:0005913)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AGTACTGGAGCTCCCCATCCA	0.622																																						ENST00000261800.5																			0				NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196						c.(3196-3198)gaG>gaA		FAT atypical cadherin 2							53	53	53					5																	150945295		2203	4300	6503	SO:0001819	synonymous_variant	2196				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding	g.chr5:150945295C>T	AF231022	CCDS4317.1	5q33.1	2014-07-21	2013-05-31		ENSG00000086570	ENSG00000086570		"Cadherins / Cadherin-related"	3596	protein-coding gene	gene with protein product	"cadherin-related family member 9"	604269	"FAT tumor suppressor (Drosophila) homolog 2", "FAT tumor suppressor homolog 2 (Drosophila)"			9693030	Standard	NM_001447		Approved	MEGF1, CDHF8, HFAT2, CDHR9	uc003lue.4	Q9NYQ8	OTTHUMG00000130126	ENST00000261800.5:c.3198G>A	5.37:g.150945295C>T							p.E1066E	NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		1	3210	-		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	1066			Cadherin 9.		O75091|Q9NSR7	Silent	SNP	ENST00000261800.5	37	c.3198G>A	CCDS4317.1																																																																																				0.622	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252434.1	NM_001447		7	12	0	0	0	1	0	7	12					T	150945295	C	T	150945295	2	4	435	1	0	0	0	0	0	0	0	1	5690	796	28	3		3	FAT2	5	150945295	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	43944	150945295	29969965	2927	23852											
FAT2	2196	broad.mit.edu	37	chr5	150947924	150947924	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggatggcaaacatctctgacCttgtgttaaaggcataatag	13	11	10	7	0	1	1	0	1	1	0	2	2	1	2	1	3	1	3	1	3	5	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:150947924C>A	ENST00000261800.5	-	1	581	c.569G>T	c.(568-570)aGg>aTg	p.R190M		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	190	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				epithelial cell migration (GO:0010631)|homophilic cell adhesion (GO:0007156)	cell-cell adherens junction (GO:0005913)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CATCTCTGACCTTGTGTTAAA	0.532																																						ENST00000261800.5																			0				NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196						c.(568-570)aGg>aTg		FAT atypical cadherin 2							120	108	112					5																	150947924		2203	4300	6503	SO:0001583	missense	2196				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding	g.chr5:150947924C>A	AF231022	CCDS4317.1	5q33.1	2014-07-21	2013-05-31		ENSG00000086570	ENSG00000086570		"Cadherins / Cadherin-related"	3596	protein-coding gene	gene with protein product	"cadherin-related family member 9"	604269	"FAT tumor suppressor (Drosophila) homolog 2", "FAT tumor suppressor homolog 2 (Drosophila)"			9693030	Standard	NM_001447		Approved	MEGF1, CDHF8, HFAT2, CDHR9	uc003lue.4	Q9NYQ8	OTTHUMG00000130126	ENST00000261800.5:c.569G>T	5.37:g.150947924C>A	ENSP00000261800:p.Arg190Met						p.R190M	NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		1	581	-		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	190			Cadherin 2.		O75091|Q9NSR7	Missense_Mutation	SNP	ENST00000261800.5	37	c.569G>T	CCDS4317.1	.	.	.	.	.	.	.	.	.	.	C	18.71	3.682119	0.68042	.	.	ENSG00000086570	ENST00000261800	T	0.61274	0.12	5.61	4.74	0.60224	Cadherin (4);Cadherin-like (1);	0.084146	0.47093	D	0.000256	T	0.68220	0.2977	L	0.55103	1.725	0.43444	D	0.995625	D	0.69078	0.997	D	0.66847	0.947	T	0.68307	-0.5443	10	0.46703	T	0.11	.	11.5253	0.50576	0.0:0.8439:0.0:0.1561	.	190	Q9NYQ8	FAT2_HUMAN	M	190	ENSP00000261800:R190M	ENSP00000261800:R190M	R	-	2	0	FAT2	150928117	1.000000	0.71417	0.778000	0.31720	0.992000	0.81027	3.341000	0.52151	1.371000	0.46172	0.555000	0.69702	AGG		0.532	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252434.1	NM_001447		22	37	1	0	6.33239e-15	1	6.92311e-15	22	37					A	150947924	C	A	150947924	3	1	435	1	0	0	0	0	1	0	0	0	5690	681	24	5	12572	5	FAT2	5	150947924	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	2629	150947924	29967336	2928	23853											
GRIA1	2890	broad.mit.edu	37	chr5	153149800	153149800	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agccatcagtttttgtgcggAccacagaggaggggatgatt	10	10	14	7	1	1	2	1	1	0	1	1	5	1	5	2	4	2	1	2	4	0	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:153149800A>T	ENST00000285900.5	+	13	2438	c.2095A>T	c.(2095-2097)Acc>Tcc	p.T699S	GRIA1_ENST00000521843.2_Missense_Mutation_p.T630S|GRIA1_ENST00000518142.1_Missense_Mutation_p.T619S|GRIA1_ENST00000518783.1_Missense_Mutation_p.T709S|GRIA1_ENST00000340592.5_Missense_Mutation_p.T699S|GRIA1_ENST00000448073.4_Missense_Mutation_p.T709S	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1	699					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|long-term memory (GO:0007616)|receptor internalization (GO:0031623)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|axonal spine (GO:0044308)|cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|dendrite membrane (GO:0032590)|dendritic spine (GO:0043197)|endocytic vesicle membrane (GO:0030666)|endoplasmic reticulum (GO:0005783)|neuron spine (GO:0044309)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|PDZ domain binding (GO:0030165)			NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Perampanel(DB08883)|Sevoflurane(DB01236)	TTTTGTGCGGACCACAGAGGA	0.473																																						ENST00000285900.5																			0				NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81						c.(2095-2097)Acc>Tcc		glutamate receptor, ionotropic, AMPA 1	Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)						141	129	133					5																	153149800		2203	4300	6503	SO:0001583	missense	0				synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding	g.chr5:153149800A>T		CCDS4322.1, CCDS47318.1, CCDS58986.1, CCDS58987.1, CCDS58988.1, CCDS58989.1	5q33	2012-08-29			ENSG00000155511	ENSG00000155511		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4571	protein-coding gene	gene with protein product		138248		GLUR1		1652753, 1319477	Standard	NM_000827		Approved	GluA1, GLURA	uc011dcy.2	P42261	OTTHUMG00000130148	ENST00000285900.5:c.2095A>T	5.37:g.153149800A>T	ENSP00000285900:p.Thr699Ser					GRIA1_ENST00000518142.1_Missense_Mutation_p.T619S|GRIA1_ENST00000340592.5_Missense_Mutation_p.T699S|GRIA1_ENST00000521843.2_Missense_Mutation_p.T630S|GRIA1_ENST00000518783.1_Missense_Mutation_p.T709S|GRIA1_ENST00000448073.4_Missense_Mutation_p.T709S	p.T699S	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		13	2438	+		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	699					B7Z2S0|B7Z2W8|B7Z3F6|B7Z9G9|D3DQI4|E7ESV8|Q2NKM6	Missense_Mutation	SNP	ENST00000285900.5	37	c.2095A>T	CCDS4322.1	.	.	.	.	.	.	.	.	.	.	A	14.57	2.573955	0.45902	.	.	ENSG00000155511	ENST00000285900;ENST00000544403;ENST00000518142;ENST00000537037;ENST00000340592;ENST00000521843;ENST00000544794;ENST00000518783;ENST00000448073	T;T;T;T;T;T;T	0.36520	1.25;1.25;1.25;1.25;1.25;1.25;1.25	5.41	5.41	0.78517	Ionotropic glutamate receptor (2);	0.045500	0.85682	D	0.000000	T	0.20700	0.0498	N	0.05554	-0.025	0.80722	D	1	B;B;B;B;B	0.28324	0.207;0.207;0.004;0.173;0.034	B;B;B;B;B	0.28638	0.092;0.092;0.047;0.056;0.074	T	0.10451	-1.0629	10	0.20519	T	0.43	.	14.6134	0.68531	1.0:0.0:0.0:0.0	.	709;709;619;699;699	E7ESV8;B7Z9G9;B7Z3F6;P42261-2;P42261	.;.;.;.;GRIA1_HUMAN	S	699;699;619;653;699;632;630;709;709	ENSP00000285900:T699S;ENSP00000427920:T619S;ENSP00000339343:T699S;ENSP00000427864:T632S;ENSP00000442108:T630S;ENSP00000428994:T709S;ENSP00000415569:T709S	ENSP00000285900:T699S	T	+	1	0	GRIA1	153129993	1.000000	0.71417	0.999000	0.59377	0.985000	0.73830	9.125000	0.94402	2.042000	0.60477	0.533000	0.62120	ACC		0.473	GRIA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252456.3			23	27	0	0	0	1	0	23	27					T	153149800	A	T	153149800	3	4	435	1	0	0	0	0	1	0	0	0	6767	275	10	5	2145	5	GRIA1	5	153149800	Missense_Mutation	SNP	A	TCGA-XK-AAIW-01A-11D-A41K-08	2201876	153149800	27765460	2929	23854											
MFAP3	4238	broad.mit.edu	37	chr5	153433126	153433126	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caaggccaggaaatagcagtTcaggtttctgtccaccttca	11	10	9	11	0	3	0	2	0	1	0	4	1	4	1	3	3	1	3	3	3	3	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:153433126T>C	ENST00000436816.1	+	3	1161	c.942T>C	c.(940-942)gtT>gtC	p.V314V	MFAP3_ENST00000439768.2_Silent_p.V168V|MFAP3_ENST00000322602.5_Silent_p.V314V	NM_001242336.1|NM_005927.4	NP_001229265.1|NP_005918.1	P55082	MFAP3_HUMAN	microfibrillar-associated protein 3	314					extracellular matrix organization (GO:0030198)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|kidney(2)|large_intestine(1)|lung(2)|pancreas(1)	7	Renal(175;0.00488)	Lung NSC(249;0.00145)|all_lung(500;0.00226)|all_neural(177;0.122)|Breast(839;0.14)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)	OV - Ovarian serous cystadenocarcinoma(192;9.69e-06)|GBM - Glioblastoma multiforme(465;0.0201)		AAATAGCAGTTCAGGTTTCTG	0.448																																						ENST00000436816.1																			0				breast(1)|kidney(2)|large_intestine(1)|lung(2)|pancreas(1)	7						c.(940-942)gtT>gtC		microfibrillar-associated protein 3							95	99	98					5																	153433126		2203	4300	6503	SO:0001819	synonymous_variant	4238					integral to membrane|plasma membrane		g.chr5:153433126T>C		CCDS4324.1, CCDS47319.1	5q32-q33.2	2013-01-11			ENSG00000037749	ENSG00000037749		"Immunoglobulin superfamily / I-set domain containing"	7034	protein-coding gene	gene with protein product		600491				7782085	Standard	NM_005927		Approved		uc010jib.2	P55082	OTTHUMG00000130149	ENST00000436816.1:c.942T>C	5.37:g.153433126T>C						MFAP3_ENST00000322602.5_Silent_p.V314V|MFAP3_ENST00000439768.2_Silent_p.V168V	p.V314V	NM_001242336.1|NM_005927.4	NP_001229265.1|NP_005918.1	P55082	MFAP3_HUMAN	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)	OV - Ovarian serous cystadenocarcinoma(192;9.69e-06)|GBM - Glioblastoma multiforme(465;0.0201)	3	1161	+	Renal(175;0.00488)	Lung NSC(249;0.00145)|all_lung(500;0.00226)|all_neural(177;0.122)|Breast(839;0.14)	314					B2RDK0|B4DKA1|Q9NXA7	Silent	SNP	ENST00000436816.1	37	c.942T>C	CCDS4324.1																																																																																				0.448	MFAP3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252457.2	NM_005927		8	53	0	0	0	1	0	8	53					C	153433126	T	C	153433126	2	2	435	1	0	0	0	0	0	0	0	1	9515	1770	62	4		4	MFAP3	5	153433126	Silent	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	283326	153433126	27482134	2930	23855											
GALNT10	55568	broad.mit.edu	37	chr5	153709146	153709146	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctctagctgcaacagcaagcGctacctggagacacttccca	11	7	8	15	1	1	1	0	0	1	1	2	2	2	1	2	1	6	4	2	1	4	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:153709146G>A	ENST00000297107.6	+	4	553	c.416G>A	c.(415-417)cGc>cAc	p.R139H	GALNT10_ENST00000425427.2_Missense_Mutation_p.R139H|GALNT10_ENST00000377661.2_Missense_Mutation_p.R139H|SAP30L-AS1_ENST00000519727.1_RNA	NM_198321.3	NP_938080.1	Q86SR1	GLT10_HUMAN	polypeptide N-acetylgalactosaminyltransferase 10	139					cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)	p.R139H(1)		cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(12)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	32	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)|all_hematologic(541;0.21)	Kidney(363;8.21e-05)|KIRC - Kidney renal clear cell carcinoma(527;0.000577)			AACAGCAAGCGCTACCTGGAG	0.577																																						ENST00000297107.6																			1	Substitution - Missense(1)	p.R139H(1)	large_intestine(1)	cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(12)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	32						c.(415-417)cGc>cAc		UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 10 (GalNAc-T10)							163	123	137					5																	153709146		2203	4300	6503	SO:0001583	missense	55568					Golgi membrane|integral to membrane	metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr5:153709146G>A	AK023782	CCDS4325.1	5q34	2014-03-13	2014-03-13		ENSG00000164574	ENSG00000164574	2.4.1.41	"Glycosyltransferase family 2 domain containing"	19873	protein-coding gene	gene with protein product	"polypeptide GalNAc transferase 10"	608043	"UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 10 (GalNAc-T10)"			12417297	Standard	NM_198321		Approved	GalNAc-T10	uc003lvh.3	Q86SR1	OTTHUMG00000130145	ENST00000297107.6:c.416G>A	5.37:g.153709146G>A	ENSP00000297107:p.Arg139His					GALNT10_ENST00000425427.2_Missense_Mutation_p.R139H|GALNT10_ENST00000377661.2_Missense_Mutation_p.R139H|SAP30L-AS1_ENST00000519727.1_RNA	p.R139H	NM_198321.3	NP_938080.1	Q86SR1	GLT10_HUMAN	Kidney(363;8.21e-05)|KIRC - Kidney renal clear cell carcinoma(527;0.000577)		4	553	+	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)|all_hematologic(541;0.21)	139					B3KXC9|Q6IN56|Q86VP8|Q8IXJ2|Q8TEJ2|Q96IV2|Q9H8E1|Q9Y4M4	Missense_Mutation	SNP	ENST00000297107.6	37	c.416G>A	CCDS4325.1	.	.	.	.	.	.	.	.	.	.	G	15.88	2.963195	0.53507	.	.	ENSG00000164574	ENST00000425427;ENST00000297107;ENST00000377661	T;T;T	0.59364	0.27;0.27;0.27	5.28	2.08	0.27032	.	2.769860	0.00906	N	0.002404	T	0.38692	0.1050	N	0.11845	0.185	0.80722	D	1	P;P;P	0.50369	0.572;0.763;0.934	B;B;B	0.36959	0.231;0.076;0.237	T	0.31779	-0.9931	10	0.46703	T	0.11	.	7.1293	0.25490	0.0943:0.0:0.3079:0.5979	.	139;139;139	Q86SR1-2;Q86SR1;Q86SR1-3	.;GLT10_HUMAN;.	H	139	ENSP00000415210:R139H;ENSP00000297107:R139H;ENSP00000366889:R139H	ENSP00000297107:R139H	R	+	2	0	GALNT10	153689339	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.988000	0.40697	0.566000	0.29273	0.655000	0.94253	CGC		0.577	GALNT10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252453.1	NM_198321		4	35	0	0	0	1	0	4	35					A	153709146	G	A	153709146	3	1	435	1	0	0	0	0	1	0	0	0	6208	1087	38	1	430	1	GALNT10	5	153709146	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	276020	153709146	27206114	2931	23856											
GALNT10	55568	broad.mit.edu	37	chr5	153760106	153760106	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cacaggcaggggatgccatgCggggagcctttgactgggag	8	6	18	9	1	0	1	0	1	0	0	0	4	0	4	2	6	3	1	2	6	0	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:153760106C>T	ENST00000297107.6	+	6	990	c.853C>T	c.(853-855)Cgg>Tgg	p.R285W	GALNT10_ENST00000519544.1_3'UTR|GALNT10_ENST00000425427.2_Missense_Mutation_p.R285W|GALNT10_ENST00000377661.2_Missense_Mutation_p.R223W|SAP30L-AS1_ENST00000519727.1_RNA	NM_198321.3	NP_938080.1	Q86SR1	GLT10_HUMAN	polypeptide N-acetylgalactosaminyltransferase 10	285					cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(12)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	32	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)|all_hematologic(541;0.21)	Kidney(363;8.21e-05)|KIRC - Kidney renal clear cell carcinoma(527;0.000577)			GGATGCCATGCGGGGAGCCTT	0.532																																						ENST00000297107.6																			0				cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(12)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	32						c.(853-855)Cgg>Tgg		UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 10 (GalNAc-T10)							147	138	141					5																	153760106		2203	4300	6503	SO:0001583	missense	55568					Golgi membrane|integral to membrane	metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr5:153760106C>T	AK023782	CCDS4325.1	5q34	2014-03-13	2014-03-13		ENSG00000164574	ENSG00000164574	2.4.1.41	"Glycosyltransferase family 2 domain containing"	19873	protein-coding gene	gene with protein product	"polypeptide GalNAc transferase 10"	608043	"UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 10 (GalNAc-T10)"			12417297	Standard	NM_198321		Approved	GalNAc-T10	uc003lvh.3	Q86SR1	OTTHUMG00000130145	ENST00000297107.6:c.853C>T	5.37:g.153760106C>T	ENSP00000297107:p.Arg285Trp					GALNT10_ENST00000425427.2_Missense_Mutation_p.R285W|GALNT10_ENST00000377661.2_Missense_Mutation_p.R223W|GALNT10_ENST00000519544.1_3'UTR|SAP30L-AS1_ENST00000519727.1_RNA	p.R285W	NM_198321.3	NP_938080.1	Q86SR1	GLT10_HUMAN	Kidney(363;8.21e-05)|KIRC - Kidney renal clear cell carcinoma(527;0.000577)		6	990	+	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)|all_hematologic(541;0.21)	285					B3KXC9|Q6IN56|Q86VP8|Q8IXJ2|Q8TEJ2|Q96IV2|Q9H8E1|Q9Y4M4	Missense_Mutation	SNP	ENST00000297107.6	37	c.853C>T	CCDS4325.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.120638	0.77323	.	.	ENSG00000164574	ENST00000425427;ENST00000297107;ENST00000377661	T;T;T	0.61742	0.08;0.08;0.08	5.59	3.68	0.42216	Glycosyl transferase, family 2 (1);	0.000000	0.85682	D	0.000000	T	0.78027	0.4219	M	0.88906	2.99	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.81311	-0.0990	10	0.49607	T	0.09	.	13.2401	0.59992	0.4101:0.5899:0.0:0.0	.	223;285;285	Q86SR1-2;Q86SR1;Q86SR1-3	.;GLT10_HUMAN;.	W	285;285;223	ENSP00000415210:R285W;ENSP00000297107:R285W;ENSP00000366889:R223W	ENSP00000297107:R285W	R	+	1	2	GALNT10	153740299	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	2.305000	0.43664	1.343000	0.45638	0.462000	0.41574	CGG		0.532	GALNT10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252453.1	NM_198321		27	55	0	0	0	1	0	27	55					T	153760106	C	T	153760106	3	4	435	1	0	0	0	0	1	0	0	0	6208	759	27	1	875	1	GALNT10	5	153760106	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	50960	153760106	27155154	2932	23857											
LARP1	23367	broad.mit.edu	37	chr5	154174848	154174848	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ttccttccaccgagtgcaggCccttaccactgacatttcac	8	11	6	16	1	1	1	1	1	0	0	3	2	3	1	5	1	2	1	5	1	1	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:154174848C>T	ENST00000336314.4	+	8	1139	c.1115C>T	c.(1114-1116)gCc>gTc	p.A372V		NM_015315.3	NP_056130.2	Q6PKG0	LARP1_HUMAN	La ribonucleoprotein domain family, member 1	449					cell proliferation (GO:0008283)|positive regulation of macroautophagy (GO:0016239)|positive regulation of translation (GO:0045727)|TOR signaling (GO:0031929)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	eukaryotic initiation factor 4E binding (GO:0008190)|mRNA 3'-UTR binding (GO:0003730)|mRNA 5'-UTR binding (GO:0048027)|poly(A) RNA binding (GO:0044822)|RNA cap binding (GO:0000339)|translation activator activity (GO:0008494)|translation initiation factor binding (GO:0031369)			breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	33	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			CGAGTGCAGGCCCTTACCACT	0.517																																						ENST00000336314.4																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	33						c.(1114-1116)gCc>gTc		La ribonucleoprotein domain family, member 1							166	132	144					5																	154174848		2203	4300	6503	SO:0001583	missense	23367						protein binding|RNA binding	g.chr5:154174848C>T	AB018274	CCDS4328.1	5q33.2	2014-02-12			ENSG00000155506	ENSG00000155506		"La ribonucleoprotein domain containing"	29531	protein-coding gene	gene with protein product		612059				9872452, 10878606	Standard	NM_015315		Approved	LARP, KIAA0731, MGC19556	uc003lvo.4	Q6PKG0	OTTHUMG00000130191	ENST00000336314.4:c.1115C>T	5.37:g.154174848C>T	ENSP00000336721:p.Ala372Val						p.A372V	NM_015315.3	NP_056130.2	Q6PKG0	LARP1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)		8	1139	+	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	449					O94836|Q8N4M2|Q8NB73|Q9UFD7	Missense_Mutation	SNP	ENST00000336314.4	37	c.1115C>T	CCDS4328.1	.	.	.	.	.	.	.	.	.	.	C	36	5.936253	0.97122	.	.	ENSG00000155506	ENST00000336314;ENST00000518297;ENST00000524248;ENST00000523163;ENST00000518742	T;T;T;T;T	0.47177	0.85;0.85;0.85;0.85;0.85	6.07	6.07	0.98685	Winged helix-turn-helix transcription repressor DNA-binding (1);RNA-binding protein Lupus La (3);	0.000000	0.85682	D	0.000000	T	0.76807	0.4039	M	0.90542	3.125	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.78981	-0.1989	10	0.59425	D	0.04	-20.0539	20.6439	0.99570	0.0:1.0:0.0:0.0	.	449;372	Q6PKG0;Q6PKG0-3	LARP1_HUMAN;.	V	372;449;244;157;56	ENSP00000336721:A372V;ENSP00000428589:A449V;ENSP00000429904:A244V;ENSP00000430438:A157V;ENSP00000431072:A56V	ENSP00000336721:A372V	A	+	2	0	LARP1	154155041	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.755000	0.85180	2.884000	0.98904	0.655000	0.94253	GCC		0.517	LARP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252509.1	NM_033551		15	19	0	0	0	1	0	15	19					T	154174848	C	T	154174848	3	4	435	1	0	0	0	0	1	0	0	0	8628	739	26	3	1145	3	LARP1	5	154174848	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	414742	154174848	26740412	2933	23858											
LARP1	23367	broad.mit.edu	37	chr5	154190896	154190896	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caaggattttcaggaggaaaCggtgaaggactatgaagctg	14	8	14	5	1	1	2	1	2	0	0	1	6	1	6	0	5	2	1	0	5	5	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:154190896C>T	ENST00000336314.4	+	17	2726	c.2702C>T	c.(2701-2703)aCg>aTg	p.T901M		NM_015315.3	NP_056130.2	Q6PKG0	LARP1_HUMAN	La ribonucleoprotein domain family, member 1	978					cell proliferation (GO:0008283)|positive regulation of macroautophagy (GO:0016239)|positive regulation of translation (GO:0045727)|TOR signaling (GO:0031929)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	eukaryotic initiation factor 4E binding (GO:0008190)|mRNA 3'-UTR binding (GO:0003730)|mRNA 5'-UTR binding (GO:0048027)|poly(A) RNA binding (GO:0044822)|RNA cap binding (GO:0000339)|translation activator activity (GO:0008494)|translation initiation factor binding (GO:0031369)			breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	33	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			CAGGAGGAAACGGTGAAGGAC	0.483																																						ENST00000336314.4																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	33						c.(2701-2703)aCg>aTg		La ribonucleoprotein domain family, member 1							102	98	100					5																	154190896		2203	4300	6503	SO:0001583	missense	23367						protein binding|RNA binding	g.chr5:154190896C>T	AB018274	CCDS4328.1	5q33.2	2014-02-12			ENSG00000155506	ENSG00000155506		"La ribonucleoprotein domain containing"	29531	protein-coding gene	gene with protein product		612059				9872452, 10878606	Standard	NM_015315		Approved	LARP, KIAA0731, MGC19556	uc003lvo.4	Q6PKG0	OTTHUMG00000130191	ENST00000336314.4:c.2702C>T	5.37:g.154190896C>T	ENSP00000336721:p.Thr901Met						p.T901M	NM_015315.3	NP_056130.2	Q6PKG0	LARP1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)		17	2726	+	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	978					O94836|Q8N4M2|Q8NB73|Q9UFD7	Missense_Mutation	SNP	ENST00000336314.4	37	c.2702C>T	CCDS4328.1	.	.	.	.	.	.	.	.	.	.	C	34	5.374729	0.95923	.	.	ENSG00000155506	ENST00000336314	T	0.40225	1.04	6.04	6.04	0.98038	.	0.000000	0.85682	D	0.000000	T	0.73644	0.3613	M	0.90198	3.095	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.99;0.996	T	0.77493	-0.2567	10	0.87932	D	0	-17.255	20.5792	0.99380	0.0:1.0:0.0:0.0	.	978;901	Q6PKG0;Q6PKG0-3	LARP1_HUMAN;.	M	901	ENSP00000336721:T901M	ENSP00000336721:T901M	T	+	2	0	LARP1	154171089	1.000000	0.71417	0.846000	0.33378	0.962000	0.63368	7.755000	0.85180	2.873000	0.98535	0.561000	0.74099	ACG		0.483	LARP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252509.1	NM_033551		23	33	0	0	0	1	0	23	33					T	154190896	C	T	154190896	3	4	435	1	0	0	0	0	1	0	0	0	8628	536	19	1	2768	1	LARP1	5	154190896	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	16048	154190896	26724364	2934	23859											
HAVCR1	26762	broad.mit.edu	37	chr5	156479482	156479482	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcgttgtcgttggaacgctcGttgtcgttgaaacagtcatt	7	15	11	8	5	1	1	1	1	0	0	5	2	1	2	0	1	2	5	0	1	2	5	rs201598799		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:156479482G>A	ENST00000339252.3	-	3	1095	c.563C>T	c.(562-564)aCg>aTg	p.T188M	HAVCR1_ENST00000522693.1_Missense_Mutation_p.T188M|HAVCR1_ENST00000425854.1_Missense_Mutation_p.T188M|HAVCR1_ENST00000523175.1_Missense_Mutation_p.T188M|HAVCR1_ENST00000544197.1_Missense_Mutation_p.T188M	NM_012206.2	NP_036338.2	Q96D42	HAVR1_HUMAN	hepatitis A virus cellular receptor 1	0	11 X 6 AA approximate tandem repeats of V-P-T-T-T-T].|Thr-rich.				viral process (GO:0016032)	integral component of membrane (GO:0016021)	virus receptor activity (GO:0001618)			endometrium(3)|large_intestine(2)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.0999)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TGGAACGCTCGTTGTCGTTGA	0.468																																						ENST00000339252.3																			0				endometrium(3)|large_intestine(2)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28						c.(562-564)aCg>aTg		hepatitis A virus cellular receptor 1							573	561	565					5																	156479482		2122	4228	6350	SO:0001583	missense	26762				interspecies interaction between organisms	integral to membrane	receptor activity	g.chr5:156479482G>A	AF043724	CCDS43392.1	5q33.2	2014-01-14			ENSG00000113249	ENSG00000113249		"Immunoglobulin superfamily / V-set domain containing"	17866	protein-coding gene	gene with protein product	"T-cell immunoglobulin mucin family member 1"	606518				9658108, 11725301	Standard	NM_012206		Approved	HAVCR-1, TIM-1, TIM1, HAVCR, TIMD1	uc021ygj.1	Q96D42	OTTHUMG00000163466	ENST00000339252.3:c.563C>T	5.37:g.156479482G>A	ENSP00000344844:p.Thr188Met					HAVCR1_ENST00000544197.1_Missense_Mutation_p.T188M|HAVCR1_ENST00000523175.1_Missense_Mutation_p.T188M|HAVCR1_ENST00000425854.1_Missense_Mutation_p.T188M|HAVCR1_ENST00000522693.1_Missense_Mutation_p.T188M	p.T188M	NM_012206.2	NP_036338.2	Q96D42	HAVR1_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		3	1095	-	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.0999)	183			11 X 6 AA approximate tandem repeats of V-P-T-T-T-T].|Thr-rich.		O43656	Missense_Mutation	SNP	ENST00000339252.3	37	c.563C>T	CCDS43392.1	.	.	.	.	.	.	.	.	.	.	G	0.255	-1.003427	0.02128	.	.	ENSG00000113249	ENST00000522693;ENST00000523175;ENST00000339252;ENST00000425854;ENST00000544197;ENST00000518745	T;T;T;T;T;T	0.17528	2.27;2.3;2.3;2.27;2.3;2.33	1.28	-2.56	0.06268	.	.	.	.	.	T	0.09158	0.0226	N	0.14661	0.345	0.09310	N	1	B;B;B	0.16802	0.019;0.002;0.002	B;B;B	0.08055	0.003;0.0;0.0	T	0.21143	-1.0254	9	0.44086	T	0.13	0.3063	8.7347	0.34521	0.3313:0.0:0.6687:0.0	.	188;183;183	E9PFX0;F1CME6;Q96D42	.;.;HAVR1_HUMAN	M	188	ENSP00000428524:T188M;ENSP00000427898:T188M;ENSP00000344844:T188M;ENSP00000403333:T188M;ENSP00000440258:T188M;ENSP00000428422:T188M	ENSP00000344844:T188M	T	-	2	0	HAVCR1	156412060	0.008000	0.16893	0.000000	0.03702	0.000000	0.00434	0.366000	0.20365	-2.405000	0.00575	-3.551000	0.00030	ACG		0.468	HAVCR1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373698.1			7	311	0	0	0	1	0	7	311					A	156479482	G	A	156479482	3	1	435	1	0	0	0	0	1	0	0	0	6973	1145	40	1	555	1	HAVCR1	5	156479482	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	2288586	156479482	24435778	2935	23860											
HAVCR1	26762	broad.mit.edu	37	chr5	156482274	156482274	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accacccacggtgctcaacaCggcaacaatatacgccactg	13	5	7	16	3	1	0	1	0	0	0	1	0	1	0	3	2	4	2	3	2	5	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:156482274C>T	ENST00000339252.3	-	2	849	c.317G>A	c.(316-318)cGt>cAt	p.R106H	HAVCR1_ENST00000522693.1_Missense_Mutation_p.R106H|HAVCR1_ENST00000425854.1_Missense_Mutation_p.R106H|HAVCR1_ENST00000523175.1_Missense_Mutation_p.R106H|HAVCR1_ENST00000544197.1_Missense_Mutation_p.R106H	NM_012206.2	NP_036338.2	Q96D42	HAVR1_HUMAN	hepatitis A virus cellular receptor 1	0	Ig-like V-type.				viral process (GO:0016032)	integral component of membrane (GO:0016021)	virus receptor activity (GO:0001618)			endometrium(3)|large_intestine(2)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.0999)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GTGCTCAACACGGCAACAATA	0.418																																						ENST00000339252.3																			0				endometrium(3)|large_intestine(2)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28						c.(316-318)cGt>cAt		hepatitis A virus cellular receptor 1							95	82	86					5																	156482274		2005	4199	6204	SO:0001583	missense	26762				interspecies interaction between organisms	integral to membrane	receptor activity	g.chr5:156482274C>T	AF043724	CCDS43392.1	5q33.2	2014-01-14			ENSG00000113249	ENSG00000113249		"Immunoglobulin superfamily / V-set domain containing"	17866	protein-coding gene	gene with protein product	"T-cell immunoglobulin mucin family member 1"	606518				9658108, 11725301	Standard	NM_012206		Approved	HAVCR-1, TIM-1, TIM1, HAVCR, TIMD1	uc021ygj.1	Q96D42	OTTHUMG00000163466	ENST00000339252.3:c.317G>A	5.37:g.156482274C>T	ENSP00000344844:p.Arg106His					HAVCR1_ENST00000544197.1_Missense_Mutation_p.R106H|HAVCR1_ENST00000523175.1_Missense_Mutation_p.R106H|HAVCR1_ENST00000425854.1_Missense_Mutation_p.R106H|HAVCR1_ENST00000522693.1_Missense_Mutation_p.R106H	p.R106H	NM_012206.2	NP_036338.2	Q96D42	HAVR1_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		2	849	-	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.0999)	106			Ig-like V-type.		O43656	Missense_Mutation	SNP	ENST00000339252.3	37	c.317G>A	CCDS43392.1	.	.	.	.	.	.	.	.	.	.	C	14.82	2.648675	0.47258	.	.	ENSG00000113249	ENST00000522693;ENST00000523175;ENST00000339252;ENST00000425854;ENST00000544197;ENST00000518745	T;T;T;T;T;T	0.65916	-0.18;-0.18;-0.18;-0.18;-0.18;-0.18	5.78	4.92	0.64577	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin/major histocompatibility complex, conserved site (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.130891	0.48767	D	0.000179	T	0.78648	0.4316	M	0.82132	2.575	0.52501	D	0.999951	D;D	0.89917	1.0;1.0	D;D	0.69142	0.962;0.962	T	0.81355	-0.0970	10	0.59425	D	0.04	-15.7893	13.9946	0.64388	0.0:0.9262:0.0:0.0738	.	106;106	F1CME6;Q96D42	.;HAVR1_HUMAN	H	106	ENSP00000428524:R106H;ENSP00000427898:R106H;ENSP00000344844:R106H;ENSP00000403333:R106H;ENSP00000440258:R106H;ENSP00000428422:R106H	ENSP00000344844:R106H	R	-	2	0	HAVCR1	156414852	0.974000	0.33945	0.877000	0.34402	0.358000	0.29455	2.399000	0.44495	1.452000	0.47756	-0.143000	0.13931	CGT		0.418	HAVCR1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373698.1			32	73	0	0	0	1	0	32	73					T	156482274	C	T	156482274	3	4	435	1	0	0	0	0	1	0	0	0	6973	536	19	1	805	1	HAVCR1	5	156482274	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	2792	156482274	24432986	2936	23861											
HAVCR2	84868	broad.mit.edu	37	chr5	156514161	156514161	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggttgtgagggttgctgcctGctgctgacatagcaataata	9	12	13	7	0	0	2	0	2	0	0	0	2	0	2	1	2	5	6	1	2	4	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:156514161G>A	ENST00000307851.4	-	7	1588	c.858C>T	c.(856-858)agC>agT	p.S286S	HAVCR2_ENST00000522593.1_Silent_p.S258S	NM_032782.4	NP_116171.3	Q8TDQ0	HAVR2_HUMAN	hepatitis A virus cellular receptor 2	286						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				cervix(1)|large_intestine(4)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	22	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.0999)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GTTGCTGCCTGCTGCTGACAT	0.428																																						ENST00000307851.4																			0				cervix(1)|large_intestine(4)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	22						c.(856-858)agC>agT		hepatitis A virus cellular receptor 2							128	105	113					5																	156514161		2203	4300	6503	SO:0001819	synonymous_variant	84868					integral to membrane		g.chr5:156514161G>A	AK027334	CCDS4333.1	5q34	2014-01-14			ENSG00000135077	ENSG00000135077		"Immunoglobulin superfamily / V-set domain containing"	18437	protein-coding gene	gene with protein product	"T-cell immunoglobulin mucin family member 3"	606652				11823861	Standard	NM_032782		Approved	Tim-3, TIM3, FLJ14428, TIMD3	uc003lwk.2	Q8TDQ0	OTTHUMG00000130249	ENST00000307851.4:c.858C>T	5.37:g.156514161G>A						HAVCR2_ENST00000522593.1_Silent_p.S258S	p.S286S	NM_032782.4	NP_116171.3	Q8TDQ0	HAVR2_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		7	1588	-	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.0999)	286					B2RAY2|Q8WW60|Q96K94	Silent	SNP	ENST00000307851.4	37	c.858C>T	CCDS4333.1																																																																																				0.428	HAVCR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252574.2			24	27	0	0	0	1	0	24	27					A	156514161	G	A	156514161	2	1	435	1	0	0	0	0	0	0	0	1	6974	1310	46	3		3	HAVCR2	5	156514161	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	31887	156514161	24401099	2937	23862											
MED7	9443	broad.mit.edu	37	chr5	156566357	156566357	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ggggaggcttgggagctaagCcttcttgaatattttcatcc	8	13	12	8	0	2	1	1	1	1	0	3	3	3	3	2	4	2	2	2	4	3	7			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:156566357C>T	ENST00000286317.5	-	2	467	c.86G>A	c.(85-87)gGc>gAc	p.G29D	MED7_ENST00000420343.1_Missense_Mutation_p.G29D	NM_004270.4	NP_004261.1	O43513	MED7_HUMAN	mediator complex subunit 7	29					gene expression (GO:0010467)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|mitochondrion (GO:0005739)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	RNA polymerase II transcription cofactor activity (GO:0001104)|transcription coactivator activity (GO:0003713)			kidney(1)|large_intestine(1)|lung(3)|urinary_tract(2)	7	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.0999)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GGGAGCTAAGCCTTCTTGAAT	0.433																																						ENST00000286317.5																			0				kidney(1)|large_intestine(1)|lung(3)|urinary_tract(2)	7						c.(85-87)gGc>gAc		mediator complex subunit 7							87	83	85					5																	156566357		2203	4300	6503	SO:0001583	missense	9443				regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex|transcription factor complex	protein binding|transcription coactivator activity	g.chr5:156566357C>T	AF104251	CCDS4334.1	5q33.3	2008-02-05	2007-07-30	2007-07-30	ENSG00000155868	ENSG00000155868			2378	protein-coding gene	gene with protein product		605045	"cofactor required for Sp1 transcriptional activation, subunit 9, 33kDa"	CRSP9		9989412	Standard	NM_004270		Approved	CRSP33	uc003lwm.4	O43513	OTTHUMG00000130243	ENST00000286317.5:c.86G>A	5.37:g.156566357C>T	ENSP00000286317:p.Gly29Asp					MED7_ENST00000420343.1_Missense_Mutation_p.G29D	p.G29D	NM_004270.4	NP_004261.1	O43513	MED7_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		2	467	-	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.0999)	29						Missense_Mutation	SNP	ENST00000286317.5	37	c.86G>A	CCDS4334.1	.	.	.	.	.	.	.	.	.	.	C	18.20	3.571813	0.65765	.	.	ENSG00000155868	ENST00000286317;ENST00000420343;ENST00000524289	.	.	.	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	T	0.75488	0.3856	M	0.77103	2.36	0.80722	D	1	B	0.27450	0.179	B	0.41813	0.367	T	0.69639	-0.5091	9	0.13470	T	0.59	-16.7248	19.8411	0.96685	0.0:1.0:0.0:0.0	.	29	O43513	MED7_HUMAN	D	29	.	ENSP00000286317:G29D	G	-	2	0	MED7	156498935	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	4.606000	0.61126	2.683000	0.91414	0.655000	0.94253	GGC		0.433	MED7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252567.2	NM_004270		21	35	0	0	0	1	0	21	35					T	156566357	C	T	156566357	3	4	435	1	0	0	0	0	1	0	0	0	9452	739	26	3	619	3	MED7	5	156566357	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	52196	156566357	24348903	2938	23863											
FAM71B	153745	broad.mit.edu	37	chr5	156589546	156589546	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ccagctcctggccaccctggGctttctccactttggcctct	3	12	8	18	0	2	0	0	0	2	0	4	0	3	0	6	3	1	2	6	3	0	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:156589546G>A	ENST00000302938.4	-	2	1825	c.1730C>T	c.(1729-1731)gCc>gTc	p.A577V		NM_130899.2	NP_570969.2	Q8TC56	FA71B_HUMAN	family with sequence similarity 71, member B	577						nucleus (GO:0005634)				NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GCCACCCTGGGCTTTCTCCAC	0.483																																						ENST00000302938.4																			0				NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68						c.(1729-1731)gCc>gTc		family with sequence similarity 71, member B							277	273	275					5																	156589546		2203	4300	6503	SO:0001583	missense	153745					nucleus		g.chr5:156589546G>A		CCDS4335.1	5q33.3	2005-08-09			ENSG00000170613	ENSG00000170613			28397	protein-coding gene	gene with protein product						12477932	Standard	NM_130899		Approved	MGC26988	uc003lwn.3	Q8TC56	OTTHUMG00000130246	ENST00000302938.4:c.1730C>T	5.37:g.156589546G>A	ENSP00000305596:p.Ala577Val						p.A577V	NM_130899.2	NP_570969.2	Q8TC56	FA71B_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		2	1825	-	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	577					Q1EDD9|Q8TC64|Q96LY8	Missense_Mutation	SNP	ENST00000302938.4	37	c.1730C>T	CCDS4335.1	.	.	.	.	.	.	.	.	.	.	G	13.05	2.121047	0.37436	.	.	ENSG00000170613	ENST00000302938	T	0.18174	2.23	3.47	1.54	0.23209	.	1.188320	0.06271	N	0.695580	T	0.17534	0.0421	M	0.68593	2.085	0.09310	N	1	P	0.45126	0.851	B	0.35859	0.212	T	0.30179	-0.9987	10	0.72032	D	0.01	-0.8578	5.4728	0.16680	0.0:0.2058:0.5361:0.2581	.	577	Q8TC56	FA71B_HUMAN	V	577	ENSP00000305596:A577V	ENSP00000305596:A577V	A	-	2	0	FAM71B	156522124	0.087000	0.21565	0.001000	0.08648	0.352000	0.29268	1.210000	0.32370	0.386000	0.24997	0.655000	0.94253	GCC		0.483	FAM71B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252570.2	NM_130899		64	100	0	0	0	1	0	64	100					A	156589546	G	A	156589546	3	1	435	1	0	0	0	0	1	0	0	0	5608	1203	42	3	91	3	FAM71B	5	156589546	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	23189	156589546	24325714	2939	23864											
ITK	3702	broad.mit.edu	37	chr5	156649954	156649954	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atcctcaggaactcgcactgCggcgcaacgaagagtactgc	11	6	11	13	4	1	1	1	0	0	1	3	3	2	2	1	2	5	3	1	2	4	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:156649954C>T	ENST00000422843.3	+	6	729	c.577C>T	c.(577-579)Cgg>Tgg	p.R193W	CTB-4E7.1_ENST00000519375.1_RNA	NM_005546.3	NP_005537.3	Q08881	ITK_HUMAN	IL2-inducible T-cell kinase	193	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.		R -> Q (in dbSNP:rs17054374).		activation of phospholipase C activity (GO:0007202)|adaptive immune response (GO:0002250)|cellular defense response (GO:0006968)|cytokine production (GO:0001816)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|interferon-gamma production (GO:0032609)|interleukin-4 production (GO:0032633)|intracellular signal transduction (GO:0035556)|NK T cell differentiation (GO:0001865)|peptidyl-tyrosine phosphorylation (GO:0018108)|signal transduction (GO:0007165)|T cell activation (GO:0042110)|T cell receptor signaling pathway (GO:0050852)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)			breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(25)|ovary(8)|prostate(2)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	70	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.1)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		Pazopanib(DB06589)	ACTCGCACTGCGGCGCAACGA	0.517			T	SYK	peripheral T-cell lymphoma																																Esophageal Squamous(70;1378 1469 8785 19883)	ENST00000422843.3				Dom	yes		5	5q31-q32	3702	T	IL2-inducible T-cell kinase			L	SYK		peripheral T-cell lymphoma		0				breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(25)|ovary(8)|prostate(2)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	70						c.(577-579)Cgg>Tgg		IL2-inducible T-cell kinase							128	119	122					5																	156649954		2203	4300	6503	SO:0001583	missense	3702				cellular defense response|intracellular signal transduction|T cell receptor signaling pathway	cytosol|plasma membrane	ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding	g.chr5:156649954C>T	D13720	CCDS4336.1	5q31-q32	2014-09-17			ENSG00000113263	ENSG00000113263		"Pleckstrin homology (PH) domain containing", "SH2 domain containing"	6171	protein-coding gene	gene with protein product		186973				8364206	Standard	NM_005546		Approved	EMT, PSCTK2, LYK	uc003lwo.1	Q08881	OTTHUMG00000130245	ENST00000422843.3:c.577C>T	5.37:g.156649954C>T	ENSP00000398655:p.Arg193Trp					CTB-4E7.1_ENST00000519375.1_RNA	p.R193W	NM_005546.3	NP_005537.3	Q08881	ITK_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		6	729	+	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.1)	193		R -> Q (in dbSNP:rs17054374).	SH3.		B2R752|Q32ML7	Missense_Mutation	SNP	ENST00000422843.3	37	c.577C>T	CCDS4336.1	.	.	.	.	.	.	.	.	.	.	C	12.85	2.062469	0.36373	.	.	ENSG00000113263	ENST00000521769;ENST00000422843	D;T	0.90069	-2.61;0.67	5.81	5.81	0.92471	Src homology-3 domain (4);	0.380726	0.29444	N	0.012123	D	0.91868	0.7426	M	0.82193	2.58	0.09310	N	1	P	0.50710	0.938	P	0.47376	0.545	D	0.87741	0.2585	10	0.72032	D	0.01	.	17.008	0.86398	0.0:1.0:0.0:0.0	.	193	Q08881	ITK_HUMAN	W	68;193	ENSP00000430327:R68W;ENSP00000398655:R193W	ENSP00000398655:R193W	R	+	1	2	ITK	156582532	0.010000	0.17322	0.007000	0.13788	0.109000	0.19521	1.917000	0.39996	2.746000	0.94184	0.591000	0.81541	CGG		0.517	ITK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252569.2			28	54	0	0	0	1	0	28	54					T	156649954	C	T	156649954	3	4	435	1	0	0	0	0	1	0	0	0	7909	759	27	1	599	1	ITK	5	156649954	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	60408	156649954	24265306	2940	23865											
CYFIP2	26999	broad.mit.edu	37	chr5	156816239	156816239	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtgacctcctgaccaaggagCggctgtgctgtggcctgtcc	5	9	14	13	1	0	2	0	2	0	0	2	3	2	3	5	3	2	2	5	3	1	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:156816239C>T	ENST00000521420.1	+	28	3263	c.3172C>T	c.(3172-3174)Cgg>Tgg	p.R1058W	CYFIP2_ENST00000377576.3_Missense_Mutation_p.R1084W|CYFIP2_ENST00000318218.6_Missense_Mutation_p.R1109W|CYFIP2_ENST00000522463.1_Missense_Mutation_p.R888W|CYFIP2_ENST00000435847.2_Missense_Mutation_p.R783W|CYFIP2_ENST00000347377.6_Missense_Mutation_p.R1084W|CYFIP2_ENST00000541131.1_Missense_Mutation_p.R1009W|CYFIP2_ENST00000442283.2_3'UTR					cytoplasmic FMR1 interacting protein 2											breast(1)|endometrium(12)|kidney(2)|lung(23)	38	Renal(175;0.00212)	Medulloblastoma(196;0.0306)|all_neural(177;0.0897)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GACCAAGGAGCGGCTGTGCTG	0.602																																						ENST00000347377.6																			0				breast(1)|endometrium(12)|kidney(2)|lung(23)	38						c.(3250-3252)Cgg>Tgg		cytoplasmic FMR1 interacting protein 2							65	73	70					5																	156816239		2184	4291	6475	SO:0001583	missense	26999				apoptosis|cell-cell adhesion	cell junction|perinuclear region of cytoplasm|synapse|synaptosome	protein binding	g.chr5:156816239C>T	AF160973	CCDS75364.1	5q34	2008-07-18				ENSG00000055163			13760	protein-coding gene	gene with protein product	"p53 inducible protein"	606323				11438699	Standard	NM_001037333		Approved	PIR121	uc021ygm.1	Q96F07		ENST00000521420.1:c.3172C>T	5.37:g.156816239C>T	ENSP00000430904:p.Arg1058Trp					CYFIP2_ENST00000522463.1_Missense_Mutation_p.R888W|CYFIP2_ENST00000377576.3_Missense_Mutation_p.R1084W|CYFIP2_ENST00000541131.1_Missense_Mutation_p.R1009W|CYFIP2_ENST00000521420.1_Missense_Mutation_p.R1058W|CYFIP2_ENST00000435847.2_Missense_Mutation_p.R783W|CYFIP2_ENST00000442283.2_3'UTR|CYFIP2_ENST00000318218.6_Missense_Mutation_p.R1109W	p.R1084W	NM_001037332.2	NP_001032409.2	Q96F07	CYFP2_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		29	3681	+	Renal(175;0.00212)	Medulloblastoma(196;0.0306)|all_neural(177;0.0897)	1109						Missense_Mutation	SNP	ENST00000521420.1	37	c.3250C>T		.	.	.	.	.	.	.	.	.	.	C	27.8	4.863592	0.91511	.	.	ENSG00000055163	ENST00000318218;ENST00000522463;ENST00000521420;ENST00000347377;ENST00000377576;ENST00000541131;ENST00000435847	T;T;T;T;T;T;T	0.25085	1.82;1.82;1.82;1.82;1.82;1.82;1.82	5.18	5.18	0.71444	.	0.000000	0.85682	D	0.000000	T	0.56337	0.1978	M	0.86573	2.825	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;0.997	D;D;D;D;D;D	0.97110	0.998;1.0;0.998;0.991;0.999;0.978	T	0.62849	-0.6767	10	0.66056	D	0.02	-27.9853	14.764	0.69626	0.1451:0.8549:0.0:0.0	.	948;888;1058;1084;1084;1109	A8MUM2;E7EW33;E7EVJ5;E7EVF4;Q96F07-2;Q96F07	.;.;.;.;.;CYFP2_HUMAN	W	1109;888;1058;1084;1084;1009;783	ENSP00000325817:R1109W;ENSP00000428009:R888W;ENSP00000430904:R1058W;ENSP00000313567:R1084W;ENSP00000366799:R1084W;ENSP00000444645:R1009W;ENSP00000403793:R783W	ENSP00000325817:R1109W	R	+	1	2	CYFIP2	156748817	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.784000	0.55416	2.579000	0.87056	0.655000	0.94253	CGG		0.602	CYFIP2-001	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000373710.1	NM_001037332		30	29	0	0	0	1	0	30	29					T	156816239	C	T	156816239	3	4	435	1	0	0	0	0	1	0	0	0	4138	759	27	1	3360	1	CYFIP2	5	156816239	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	166285	156816239	24099021	2941	23866											
CYFIP2	26999	broad.mit.edu	37	chr5	156816382	156816382	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gagttccaccggctgtggagCgccatgcagttcgtgtactg	6	10	14	11	3	0	0	0	0	0	0	2	2	1	1	3	2	3	5	3	2	1	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:156816382C>T	ENST00000521420.1	+	28	3406	c.3315C>T	c.(3313-3315)agC>agT	p.S1105S	CYFIP2_ENST00000377576.3_Silent_p.S1131S|CYFIP2_ENST00000318218.6_Silent_p.S1156S|CYFIP2_ENST00000522463.1_Silent_p.S935S|CYFIP2_ENST00000435847.2_Silent_p.S830S|CYFIP2_ENST00000347377.6_Silent_p.S1131S|CYFIP2_ENST00000541131.1_Silent_p.S1056S|CYFIP2_ENST00000442283.2_3'UTR					cytoplasmic FMR1 interacting protein 2											breast(1)|endometrium(12)|kidney(2)|lung(23)	38	Renal(175;0.00212)	Medulloblastoma(196;0.0306)|all_neural(177;0.0897)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GGCTGTGGAGCGCCATGCAGT	0.622																																						ENST00000347377.6																			0				breast(1)|endometrium(12)|kidney(2)|lung(23)	38						c.(3391-3393)agC>agT		cytoplasmic FMR1 interacting protein 2							55	64	61					5																	156816382		2161	4281	6442	SO:0001819	synonymous_variant	26999				apoptosis|cell-cell adhesion	cell junction|perinuclear region of cytoplasm|synapse|synaptosome	protein binding	g.chr5:156816382C>T	AF160973	CCDS75364.1	5q34	2008-07-18				ENSG00000055163			13760	protein-coding gene	gene with protein product	"p53 inducible protein"	606323				11438699	Standard	NM_001037333		Approved	PIR121	uc021ygm.1	Q96F07		ENST00000521420.1:c.3315C>T	5.37:g.156816382C>T						CYFIP2_ENST00000522463.1_Silent_p.S935S|CYFIP2_ENST00000377576.3_Silent_p.S1131S|CYFIP2_ENST00000541131.1_Silent_p.S1056S|CYFIP2_ENST00000521420.1_Silent_p.S1105S|CYFIP2_ENST00000435847.2_Silent_p.S830S|CYFIP2_ENST00000442283.2_3'UTR|CYFIP2_ENST00000318218.6_Silent_p.S1156S	p.S1131S	NM_001037332.2	NP_001032409.2	Q96F07	CYFP2_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		29	3824	+	Renal(175;0.00212)	Medulloblastoma(196;0.0306)|all_neural(177;0.0897)	1156						Silent	SNP	ENST00000521420.1	37	c.3393C>T																																																																																					0.622	CYFIP2-001	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000373710.1	NM_001037332		13	27	0	0	0	1	0	13	27					T	156816382	C	T	156816382	2	4	435	1	0	0	0	0	0	0	0	1	4138	767	27	1		1	CYFIP2	5	156816382	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	143	156816382	24098878	2942	23867											
NIPAL4	348938	broad.mit.edu	37	chr5	156899810	156899810	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagacctggacatcagctgcGccagcttgccccacatgcac	10	6	9	16	1	1	1	1	0	0	1	1	2	1	2	4	1	5	3	4	1	1	1	rs367993555		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:156899810G>A	ENST00000311946.7	+	6	1359	c.1243G>A	c.(1243-1245)Gcc>Acc	p.A415T	ADAM19_ENST00000430702.2_Intron|NIPAL4_ENST00000435489.2_Missense_Mutation_p.A396T	NM_001099287.1	NP_001092757.1	Q0D2K0	NIPA4_HUMAN	NIPA-like domain containing 4	415						integral component of membrane (GO:0016021)	magnesium ion transmembrane transporter activity (GO:0015095)			breast(3)|endometrium(3)|kidney(1)|large_intestine(1)|lung(12)|prostate(1)|skin(1)	22						CATCAGCTGCGCCAGCTTGCC	0.537																																						ENST00000311946.7																			0				breast(3)|endometrium(3)|kidney(1)|large_intestine(1)|lung(12)|prostate(1)|skin(1)	22						c.(1243-1245)Gcc>Acc		NIPA-like domain containing 4							64	61	62					5																	156899810		2058	4219	6277	SO:0001583	missense	348938					integral to membrane	receptor activity	g.chr5:156899810G>A	AK026158	CCDS47328.1, CCDS54944.1	5q33.3	2009-03-24	2009-03-24		ENSG00000172548	ENSG00000172548			28018	protein-coding gene	gene with protein product	"ichthyin"	609383	"NIPA-like 4"			8619474, 9110174, 15317751	Standard	NM_001099287		Approved	ICHYN	uc003lwx.4	Q0D2K0	OTTHUMG00000163497	ENST00000311946.7:c.1243G>A	5.37:g.156899810G>A	ENSP00000311687:p.Ala415Thr					NIPAL4_ENST00000435489.2_Missense_Mutation_p.A396T|ADAM19_ENST00000430702.2_Intron	p.A415T	NM_001099287.1	NP_001092757.1	Q0D2K0	NIPA4_HUMAN			6	1359	+			415					A8S6F1|A8S6F5|A8S6F8|B4DLF3|Q0D2J8|Q0D2J9	Missense_Mutation	SNP	ENST00000311946.7	37	c.1243G>A	CCDS47328.1	.	.	.	.	.	.	.	.	.	.	G	11.51	1.659845	0.29515	.	.	ENSG00000172548	ENST00000435489;ENST00000311946	D;D	0.90324	-2.64;-2.65	5.93	0.785	0.18584	.	1.205080	0.05505	N	0.559070	T	0.76863	0.4047	N	0.08118	0	0.09310	N	1	B;B	0.09022	0.001;0.002	B;B	0.06405	0.002;0.001	T	0.62868	-0.6763	10	0.16896	T	0.51	-8.9001	1.7096	0.02889	0.3858:0.1308:0.3517:0.1318	.	396;415	Q0D2K0-2;Q0D2K0	.;NIPA4_HUMAN	T	396;415	ENSP00000406456:A396T;ENSP00000311687:A415T	ENSP00000311687:A415T	A	+	1	0	NIPAL4	156832388	0.000000	0.05858	0.000000	0.03702	0.729000	0.41735	0.881000	0.28173	0.124000	0.18369	0.561000	0.74099	GCC		0.537	NIPAL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373789.1	NM_001099287		15	17	0	0	0	1	0	15	17					A	156899810	G	A	156899810	3	1	435	1	0	0	0	0	1	0	0	0	10427	1087	38	1	1265	1	NIPAL4	5	156899810	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	83428	156899810	24015450	2943	23868											
ADAM19	8728	broad.mit.edu	37	chr5	156918644	156918644	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcagggggcataggcccacTgtcgatactgcccccgtggc	6	7	13	15	2	1	0	1	0	0	0	2	1	1	0	3	4	2	1	3	4	2	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:156918644T>C	ENST00000517905.1	-	18	2118	c.2074A>G	c.(2074-2076)Agt>Ggt	p.S692G	ADAM19_ENST00000257527.4_Missense_Mutation_p.S692G|ADAM19_ENST00000430702.2_Missense_Mutation_p.S425G|ADAM19_ENST00000394020.1_Missense_Mutation_p.S694G			Q9H013	ADA19_HUMAN	ADAM metallopeptidase domain 19	692					heart development (GO:0007507)|membrane protein ectodomain proteolysis (GO:0006509)	integral component of membrane (GO:0016021)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53	Renal(175;0.00488)	Medulloblastoma(196;0.0359)|all_neural(177;0.14)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			ATAGGCCCACTGTCGATACTG	0.637																																						ENST00000257527.4																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53						c.(2074-2076)Agt>Ggt		ADAM metallopeptidase domain 19							20	21	20					5																	156918644		2201	4298	6499	SO:0001583	missense	8728				proteolysis	integral to membrane	metalloendopeptidase activity|SH3 domain binding|zinc ion binding	g.chr5:156918644T>C	AF311317	CCDS4338.1	5q33.3	2010-06-24	2010-06-24		ENSG00000135074	ENSG00000135074		"ADAM metallopeptidase domain containing"	197	protein-coding gene	gene with protein product	"meltrin beta"	603640	"a disintegrin and metalloproteinase domain 19 (meltrin beta)"			9806848	Standard	NM_033274		Approved	MLTNB	uc003lwz.4	Q9H013	OTTHUMG00000130242	ENST00000517905.1:c.2074A>G	5.37:g.156918644T>C	ENSP00000428654:p.Ser692Gly					ADAM19_ENST00000394020.1_Missense_Mutation_p.S694G|ADAM19_ENST00000517905.1_Missense_Mutation_p.S692G|ADAM19_ENST00000430702.2_Missense_Mutation_p.S425G	p.S692G	NM_033274.3	NP_150377.1	Q9H013	ADA19_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		18	2152	-	Renal(175;0.00488)	Medulloblastoma(196;0.0359)|all_neural(177;0.14)	692					Q9BZL5|Q9UHP2	Missense_Mutation	SNP	ENST00000517905.1	37	c.2074A>G		.	.	.	.	.	.	.	.	.	.	T	26.3	4.719664	0.89205	.	.	ENSG00000135074	ENST00000430702;ENST00000257527;ENST00000394020;ENST00000517905	D;D;D;D	0.87571	-2.27;-2.27;-2.27;-2.27	4.93	4.93	0.64822	.	0.000000	0.64402	D	0.000001	D	0.94522	0.8236	M	0.91196	3.185	0.58432	D	0.999999	D;D;D	0.76494	0.999;0.998;0.998	D;D;D	0.81914	0.995;0.989;0.989	D	0.95651	0.8707	10	0.87932	D	0	.	14.5796	0.68278	0.0:0.0:0.0:1.0	.	692;692;425	Q9H013-2;Q9H013;E9PD32	.;ADA19_HUMAN;.	G	425;692;694;692	ENSP00000414088:S425G;ENSP00000257527:S692G;ENSP00000377588:S694G;ENSP00000428654:S692G	ENSP00000257527:S692G	S	-	1	0	ADAM19	156851222	1.000000	0.71417	1.000000	0.80357	0.829000	0.46940	8.040000	0.89188	1.854000	0.53819	0.460000	0.39030	AGT		0.637	ADAM19-003	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000373918.1	NM_033274		7	7	0	0	0	1	0	7	7					C	156918644	T	C	156918644	3	2	435	1	0	0	0	0	1	0	0	0	240	1580	55	4	706	4	ADAM19	5	156918644	Missense_Mutation	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	18834	156918644	23996616	2944	23869											
SOX30	11063	broad.mit.edu	37	chr5	157078120	157078120	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	actcccctgctgtctaatacCtgcatctgagggcaacacgg	9	9	9	14	1	2	1	0	1	2	0	3	1	3	1	3	2	4	3	3	2	3	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:157078120C>A	ENST00000265007.6	-	1	1308	c.967G>T	c.(967-969)Ggc>Tgc	p.G323C	SOX30_ENST00000311371.5_Splice_Site_p.G323C|SOX30_ENST00000519442.1_Intron	NM_178424.1	NP_848511.1	O94993	SOX30_HUMAN	SRY (sex determining region Y)-box 30	323					regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|response to corticosteroid (GO:0031960)|spermatogenesis (GO:0007283)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	23	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TGTCTAATACCTGCATCTGAG	0.473																																					Esophageal Squamous(31;525 799 19355 21125 41744)	ENST00000265007.6																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	23						c.e1+1		SRY (sex determining region Y)-box 30							69	75	73					5																	157078120		2203	4299	6502	SO:0001630	splice_region_variant	11063				regulation of transcription from RNA polymerase II promoter|regulation of transcription, DNA-dependent|response to corticosteroid stimulus|transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity	g.chr5:157078120C>A	AB022083	CCDS4339.1, CCDS4340.1	5q33	2010-10-21			ENSG00000039600	ENSG00000039600		"SRY (sex determining region Y)-boxes"	30635	protein-coding gene	gene with protein product		606698				15019997, 11678506	Standard	NM_178424		Approved		uc003lxb.1	O94993	OTTHUMG00000130247	ENST00000265007.6:c.967+1G>T	5.37:g.157078120C>A						SOX30_ENST00000311371.5_Splice_Site_p.G323_splice|SOX30_ENST00000519442.1_Intron	p.G323_splice	NM_178424.1	NP_848511.1	O94993	SOX30_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		1	1308	-	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	323					O94995|Q8IYX6	Splice_Site	SNP	ENST00000265007.6	37	c.967_splice	CCDS4339.1	.	.	.	.	.	.	.	.	.	.	C	17.27	3.348067	0.61183	.	.	ENSG00000039600	ENST00000311371;ENST00000265007	D;D	0.98105	-4.72;-4.4	5.18	5.18	0.71444	High mobility group, superfamily (1);	0.000000	0.56097	D	0.000036	D	0.96327	0.8802	N	0.08118	0	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.68943	0.961;0.915	D	0.95892	0.8908	9	.	.	.	.	16.9025	0.86117	0.0:1.0:0.0:0.0	.	323;323	O94993-2;O94993	.;SOX30_HUMAN	C	323	ENSP00000309343:G323C;ENSP00000265007:G323C	.	G	-	1	0	SOX30	157010698	1.000000	0.71417	1.000000	0.80357	0.645000	0.38454	5.357000	0.66058	2.420000	0.82092	0.460000	0.39030	GGC		0.473	SOX30-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252571.2	NM_007017	Missense_Mutation	25	34	1	0	1.64293e-13	1	1.78609e-13	25	34					A	157078120	C	A	157078120	5	1	435	1	0	0	0	0	0	0	1	0	14952	695	24	5	1314	5	SOX30	5	157078120	Splice_Site	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	159476	157078120	23837140	2945	23870											
SOX30	11063	broad.mit.edu	37	chr5	157078230	157078230	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgtcagggggaccttggtcAatcttatcagctctgaaggc	8	11	13	9	0	5	1	3	1	2	0	5	2	5	2	1	4	1	1	1	4	3	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:157078230A>G	ENST00000265007.6	-	1	1198	c.857T>C	c.(856-858)tTg>tCg	p.L286S	SOX30_ENST00000311371.5_Missense_Mutation_p.L286S|SOX30_ENST00000519442.1_Intron	NM_178424.1	NP_848511.1	O94993	SOX30_HUMAN	SRY (sex determining region Y)-box 30	286					regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|response to corticosteroid (GO:0031960)|spermatogenesis (GO:0007283)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	23	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GACCTTGGTCAATCTTATCAG	0.562																																					Esophageal Squamous(31;525 799 19355 21125 41744)	ENST00000265007.6																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	23						c.(856-858)tTg>tCg		SRY (sex determining region Y)-box 30							81	90	87					5																	157078230		2203	4300	6503	SO:0001583	missense	11063				regulation of transcription from RNA polymerase II promoter|regulation of transcription, DNA-dependent|response to corticosteroid stimulus|transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity	g.chr5:157078230A>G	AB022083	CCDS4339.1, CCDS4340.1	5q33	2010-10-21			ENSG00000039600	ENSG00000039600		"SRY (sex determining region Y)-boxes"	30635	protein-coding gene	gene with protein product		606698				15019997, 11678506	Standard	NM_178424		Approved		uc003lxb.1	O94993	OTTHUMG00000130247	ENST00000265007.6:c.857T>C	5.37:g.157078230A>G	ENSP00000265007:p.Leu286Ser					SOX30_ENST00000311371.5_Missense_Mutation_p.L286S|SOX30_ENST00000519442.1_Intron	p.L286S	NM_178424.1	NP_848511.1	O94993	SOX30_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		1	1198	-	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	286					O94995|Q8IYX6	Missense_Mutation	SNP	ENST00000265007.6	37	c.857T>C	CCDS4339.1	.	.	.	.	.	.	.	.	.	.	A	11.25	1.583433	0.28268	.	.	ENSG00000039600	ENST00000311371;ENST00000265007	D;D	0.98135	-4.74;-4.34	4.66	4.66	0.58398	.	0.153499	0.30781	N	0.008895	D	0.96719	0.8929	L	0.29908	0.895	0.80722	D	1	D;P	0.61697	0.99;0.948	P;P	0.60236	0.871;0.614	D	0.96676	0.9500	10	0.87932	D	0	.	10.3261	0.43793	0.8359:0.1641:0.0:0.0	.	286;286	O94993-2;O94993	.;SOX30_HUMAN	S	286	ENSP00000309343:L286S;ENSP00000265007:L286S	ENSP00000265007:L286S	L	-	2	0	SOX30	157010808	1.000000	0.71417	0.977000	0.42913	0.066000	0.16364	4.377000	0.59562	1.960000	0.56953	0.377000	0.23210	TTG		0.562	SOX30-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252571.2	NM_007017		34	59	0	0	0	1	0	34	59					G	157078230	A	G	157078230	3	3	435	1	0	0	0	0	1	0	0	0	14952	131	5	4	1424	4	SOX30	5	157078230	Missense_Mutation	SNP	A	TCGA-XK-AAIW-01A-11D-A41K-08	110	157078230	23837030	2946	23871											
CLINT1	9685	broad.mit.edu	37	chr5	157214774	157214774	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtcaagcccatcccagcagcGgacatccctatgttcatgtt	9	10	8	14	1	2	0	2	0	0	0	4	1	4	1	3	1	3	3	3	1	2	3	rs376089257		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:157214774G>A	ENST00000411809.2	-	12	1962	c.1758C>T	c.(1756-1758)tcC>tcT	p.S586S	CLINT1_ENST00000523094.1_Silent_p.S586S|CLINT1_ENST00000296951.5_Silent_p.S586S|CLINT1_ENST00000530742.1_Silent_p.S586S|CLINT1_ENST00000523908.1_Silent_p.S604S	NM_014666.3	NP_055481.1	Q14677	EPN4_HUMAN	clathrin interactor 1	586	Met-rich.				clathrin coat assembly (GO:0048268)|endocytosis (GO:0006897)|membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)	clathrin-coated vesicle (GO:0030136)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)	clathrin binding (GO:0030276)|lipid binding (GO:0008289)			breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|urinary_tract(1)	21	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TCCCAGCAGCGGACATCCCTA	0.512													G|||	1	0.000199681	8e-04	0	5008	,	,		17965	0		0	False		,,,				2504	0				Colon(22;427 587 2170 6147 14291)	ENST00000523094.1																			0				breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|urinary_tract(1)	21						c.(1756-1758)tcC>tcT		clathrin interactor 1		G	,,	1,4089		0,1,2044	170	165	166		1812,1758,1758	-6.6	0	5		166	0,8400		0,0,4200	no	coding-synonymous,coding-synonymous,coding-synonymous	CLINT1	NM_001195555.1,NM_001195556.1,NM_014666.3	,,	0,1,6244	AA,AG,GG		0.0,0.0244,0.0080	,,	604/644,586/626,586/626	157214774	1,12489	2045	4200	6245	SO:0001819	synonymous_variant	9685				endocytosis|post-Golgi vesicle-mediated transport	clathrin-coated vesicle|cytosol|Golgi apparatus|membrane|perinuclear region of cytoplasm	clathrin binding|lipid binding	g.chr5:157214774G>A	AF434813	CCDS47330.1, CCDS56388.1, CCDS56389.1	5q33.3	2006-06-13			ENSG00000113282	ENSG00000113282			23186	protein-coding gene	gene with protein product		607265				12213833, 12429846	Standard	NM_014666		Approved	ENTH, KIAA0171, EPNR, CLINT	uc011ddv.2	Q14677	OTTHUMG00000163527	ENST00000411809.2:c.1758C>T	5.37:g.157214774G>A						CLINT1_ENST00000523908.1_Silent_p.S604S|CLINT1_ENST00000296951.5_Silent_p.S586S|CLINT1_ENST00000411809.2_Silent_p.S586S|CLINT1_ENST00000530742.1_Silent_p.S586S	p.S586S	NM_001195555.1|NM_001195556.1	NP_001182484.1|NP_001182485.1	Q14677	EPN4_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		12	1963	-	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	586			Met-rich.		B7Z6F8|D3DQJ6|Q8NAF1|Q96E05	Silent	SNP	ENST00000411809.2	37	c.1758C>T	CCDS47330.1																																																																																				0.512	CLINT1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000374001.1	NM_014666		33	74	0	0	0	1	0	33	74					A	157214774	G	A	157214774	2	1	435	1	0	0	0	0	0	0	0	1	3531	1103	39	2		2	CLINT1	5	157214774	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	136544	157214774	23700486	2947	23872											
FABP6	2172	broad.mit.edu	37	chr5	159665625	159665625	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tctttcaggtctccaccatcGgaggcgtgacctatgagcgc	7	10	11	13	3	3	2	1	2	2	0	5	3	3	3	3	3	1	0	3	3	1	2	rs369110932		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:159665625G>A	ENST00000402432.3	+	4	474	c.346G>A	c.(346-348)Gga>Aga	p.G116R	FABP6_ENST00000393980.4_Missense_Mutation_p.G165R|FABP6_ENST00000393982.1_Missense_Mutation_p.G165R	NM_001445.2	NP_001436.1	P51161	FABP6_HUMAN	fatty acid binding protein 6, ileal	116					bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|lipid metabolic process (GO:0006629)|negative regulation of cell proliferation (GO:0008285)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	lipid binding (GO:0008289)|transporter activity (GO:0005215)			breast(1)|kidney(1)|large_intestine(1)|lung(2)	5	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.116)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CTCCACCATCGGAGGCGTGAC	0.587																																					Colon(29;562 677 12756 16385 20992)	ENST00000393980.4																			0				breast(1)|kidney(1)|large_intestine(1)|lung(2)	5						c.(493-495)Gga>Aga		fatty acid binding protein 6, ileal		G	ARG/GLY,ARG/GLY,ARG/GLY	0,4406		0,0,2203	63	65	65		493,493,346	2.6	0	5		65	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	FABP6	NM_001040442.1,NM_001130958.1,NM_001445.2	125,125,125	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign,benign,benign	165/178,165/178,116/129	159665625	1,13005	2203	4300	6503	SO:0001583	missense	2172				bile acid and bile salt transport|bile acid metabolic process|negative regulation of cell proliferation	cytosol	transporter activity	g.chr5:159665625G>A	U19869	CCDS4349.1, CCDS43393.1	5q23-q35	2013-03-01	2008-08-01		ENSG00000170231	ENSG00000170231		"Fatty acid binding protein family"	3561	protein-coding gene	gene with protein product	"illeal lipid-binding protein", "ileal bile acid binding protein", "gastrotropin"	600422				7894165, 7619861	Standard	NM_001130958		Approved	I-15P, ILLBP, I-BAP, ILBP3, I-BABP, ILBP, I-BALB	uc003lxx.1	P51161	OTTHUMG00000130329	ENST00000402432.3:c.346G>A	5.37:g.159665625G>A	ENSP00000385433:p.Gly116Arg					FABP6_ENST00000393982.1_Missense_Mutation_p.G165R|FABP6_ENST00000402432.3_Missense_Mutation_p.G116R	p.G165R	NM_001130958.1	NP_001124430.1	P51161	FABP6_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		7	639	+	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.116)	116					Q07DR7|Q8TBI3|Q9UGI7	Missense_Mutation	SNP	ENST00000402432.3	37	c.493G>A	CCDS4349.1	.	.	.	.	.	.	.	.	.	.	G	9.667	1.145606	0.21288	0.0	1.16E-4	ENSG00000170231	ENST00000393980;ENST00000393982;ENST00000402432	T;T;T	0.26067	1.76;1.76;1.76	5.54	2.64	0.31445	Calycin-like (1);Cytosolic fatty-acid binding (1);Calycin (1);	0.551923	0.19438	N	0.114258	T	0.25827	0.0629	M	0.64404	1.975	0.09310	N	1	B;P	0.35481	0.262;0.504	B;B	0.36378	0.086;0.223	T	0.14727	-1.0462	10	0.72032	D	0.01	-3.1537	7.7703	0.29004	0.2684:0.0:0.7316:0.0	.	116;165	P51161;P51161-2	FABP6_HUMAN;.	R	165;165;116	ENSP00000377549:G165R;ENSP00000377551:G165R;ENSP00000385433:G116R	ENSP00000377549:G165R	G	+	1	0	FABP6	159598203	0.000000	0.05858	0.001000	0.08648	0.287000	0.27160	0.538000	0.23160	0.231000	0.21079	0.462000	0.41574	GGA		0.587	FABP6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320505.2	NM_001040442		16	42	0	0	0	1	0	16	42					A	159665625	G	A	159665625	3	1	435	1	0	0	0	0	1	0	0	0	5361	1117	39	2	515	2	FABP6	5	159665625	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	2450851	159665625	21249635	2948	23873											
CCNJL	79616	broad.mit.edu	37	chr5	159680778	159680778	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcctggctcttgacggctacGgcatccttgaggacgttgtc	5	11	13	12	3	1	2	0	2	1	0	3	3	2	3	2	4	1	4	2	4	1	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:159680778G>A	ENST00000393977.3	-	7	1200	c.915C>T	c.(913-915)gcC>gcT	p.A305A	CCNJL_ENST00000377503.2_5'UTR|CCNJL_ENST00000257536.7_Silent_p.A257A	NM_024565.5	NP_078841.3	Q8IV13	CCNJL_HUMAN	cyclin J-like	305						nucleus (GO:0005634)				endometrium(2)|kidney(5)|large_intestine(2)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	17	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.116)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TGACGGCTACGGCATCCTTGA	0.607																																						ENST00000393977.3																			0				endometrium(2)|kidney(5)|large_intestine(2)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	17						c.(913-915)gcC>gcT		cyclin J-like							35	40	38					5																	159680778		2026	4168	6194	SO:0001819	synonymous_variant	79616					nucleus		g.chr5:159680778G>A	BC013353	CCDS4350.2	5q33.3	2008-10-31			ENSG00000135083	ENSG00000135083			25876	protein-coding gene	gene with protein product						12477932	Standard	XM_005265982		Approved	FLJ14166	uc003lyb.1	Q8IV13	OTTHUMG00000130325	ENST00000393977.3:c.915C>T	5.37:g.159680778G>A						CCNJL_ENST00000257536.7_Silent_p.A257A|CCNJL_ENST00000377503.2_5'UTR	p.A305A	NM_024565.5	NP_078841.3	Q8IV13	CCNJL_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		7	1200	-	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.116)	305					Q6ZN43|Q9H7W8	Silent	SNP	ENST00000393977.3	37	c.915C>T	CCDS4350.2																																																																																				0.607	CCNJL-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252674.1	NM_024565		13	23	0	0	0	1	0	13	23					A	159680778	G	A	159680778	2	1	435	1	0	0	0	0	0	0	0	1	2929	1103	39	2		2	CCNJL	5	159680778	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	15153	159680778	21234482	2949	23874											
SLU7	10569	broad.mit.edu	37	chr5	159834777	159834777	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgtctgagccattgaaatggTatctcctgtgtacctaacaa	11	13	8	9	0	2	2	0	2	2	0	3	2	2	2	3	1	3	2	3	1	5	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:159834777T>C	ENST00000297151.4	-	10	1348	c.961A>G	c.(961-963)Acc>Gcc	p.T321A		NM_006425.4	NP_006416.3	O95391	SLU7_HUMAN	SLU7 splicing factor homolog (S. cerevisiae)	321					alternative mRNA splicing, via spliceosome (GO:0000380)|cellular response to heat (GO:0034605)|intracellular protein transport (GO:0006886)|mRNA 3'-splice site recognition (GO:0000389)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|small nuclear ribonucleoprotein complex (GO:0030532)|spliceosomal complex (GO:0005681)	pre-mRNA 3'-splice site binding (GO:0030628)|second spliceosomal transesterification activity (GO:0000386)|zinc ion binding (GO:0008270)			endometrium(4)|kidney(5)|large_intestine(4)|lung(6)|ovary(1)	20	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.116)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			ATTGAAATGGTATCTCCTGTG	0.333																																						ENST00000297151.4																			0				endometrium(4)|kidney(5)|large_intestine(4)|lung(6)|ovary(1)	20						c.(961-963)Acc>Gcc		SLU7 splicing factor homolog (S. cerevisiae)							108	104	105					5																	159834777		2203	4300	6503	SO:0001583	missense	10569				alternative nuclear mRNA splicing, via spliceosome|nuclear mRNA 3'-splice site recognition	catalytic step 2 spliceosome|cytoplasm|nuclear speck|small nuclear ribonucleoprotein complex	pre-mRNA 3'-splice site binding|second spliceosomal transesterification activity|zinc ion binding	g.chr5:159834777T>C	AF101074	CCDS4352.1	5q33.3	2010-04-13			ENSG00000164609	ENSG00000164609			16939	protein-coding gene	gene with protein product	zinc knuckle motif containing	605974				10197984, 15728250	Standard	NM_006425		Approved	9G8	uc003lyg.3	O95391	OTTHUMG00000130324	ENST00000297151.4:c.961A>G	5.37:g.159834777T>C	ENSP00000297151:p.Thr321Ala						p.T321A	NM_006425.4	NP_006416.3	O95391	SLU7_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		10	1348	-	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.116)	321					D3DQK2|Q3LUJ0|Q3LUJ1|Q6RXQ5|Q96FM9	Missense_Mutation	SNP	ENST00000297151.4	37	c.961A>G	CCDS4352.1	.	.	.	.	.	.	.	.	.	.	T	20.4	3.980775	0.74474	.	.	ENSG00000164609	ENST00000297151	T	0.35973	1.28	6.17	6.17	0.99709	Pre-mRNA splicing Prp18-interacting factor (1);	0.042690	0.85682	N	0.000000	T	0.43344	0.1243	N	0.16233	0.39	0.80722	D	1	D	0.65815	0.995	D	0.64237	0.923	T	0.37220	-0.9715	10	0.40728	T	0.16	-10.1574	16.8222	0.85835	0.0:0.0:0.0:1.0	.	321	O95391	SLU7_HUMAN	A	321	ENSP00000297151:T321A	ENSP00000297151:T321A	T	-	1	0	SLU7	159767355	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	7.621000	0.83083	2.371000	0.80710	0.533000	0.62120	ACC		0.333	SLU7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252673.1	NM_006425		6	134	0	0	0	1	0	6	134					C	159834777	T	C	159834777	3	2	435	1	0	0	0	0	1	0	0	0	14755	1638	57	4	827	4	SLU7	5	159834777	Missense_Mutation	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	153999	159834777	21080483	2950	23875											
PTTG1	9232	broad.mit.edu	37	chr5	159849845	159849845	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caacagagctacagaaaagtCtgtaaagaccaagggacccc	17	4	9	11	0	1	3	0	0	1	3	1	4	1	4	3	1	3	2	3	1	7	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:159849845C>A	ENST00000393964.1	+	2	624	c.221C>A	c.(220-222)tCt>tAt	p.S74Y	PTTG1_ENST00000520452.1_Missense_Mutation_p.S74Y|PTTG1_ENST00000519287.1_3'UTR|PTTG1_ENST00000352433.5_Missense_Mutation_p.S74Y	NM_001282382.1	NP_001269311.1	O95997	PTTG1_HUMAN	pituitary tumor-transforming 1	74					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|chromosome organization (GO:0051276)|chromosome segregation (GO:0007059)|DNA repair (GO:0006281)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of endopeptidase activity (GO:0010951)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	cysteine-type endopeptidase inhibitor activity (GO:0004869)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|large_intestine(1)|lung(4)	6	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.116)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	OV - Ovarian serous cystadenocarcinoma(192;0.00219)|Epithelial(171;0.00348)|all cancers(165;0.0104)		ACAGAAAAGTCTGTAAAGACC	0.428																																						ENST00000393964.1																			0				breast(1)|large_intestine(1)|lung(4)	6						c.(220-222)tCt>tAt		pituitary tumor-transforming 1							83	85	85					5																	159849845		2203	4300	6503	SO:0001583	missense	9232				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|chromosome organization|chromosome segregation|DNA repair|mitosis|spermatogenesis|transcription from RNA polymerase II promoter	cytosol|nucleus	cysteine-type endopeptidase inhibitor activity|sequence-specific DNA binding transcription factor activity|SH3 domain binding	g.chr5:159849845C>A	AF062649	CCDS4353.1	5q35.1	2014-08-04			ENSG00000164611	ENSG00000164611			9690	protein-coding gene	gene with protein product	"ESP1-associated protein 1", "tumor-transforming protein 1"	604147		TUTR1		9811450, 9892021	Standard	NM_004219		Approved	PTTG, HPTTG, EAP1, securin	uc003lyj.3	O95997	OTTHUMG00000130328	ENST00000393964.1:c.221C>A	5.37:g.159849845C>A	ENSP00000377536:p.Ser74Tyr					PTTG1_ENST00000519287.1_3'UTR|PTTG1_ENST00000352433.5_Missense_Mutation_p.S74Y|PTTG1_ENST00000520452.1_Missense_Mutation_p.S74Y	p.S74Y			O95997	PTTG1_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	OV - Ovarian serous cystadenocarcinoma(192;0.00219)|Epithelial(171;0.00348)|all cancers(165;0.0104)	2	624	+	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.116)	74						Missense_Mutation	SNP	ENST00000393964.1	37	c.221C>A	CCDS4353.1	.	.	.	.	.	.	.	.	.	.	C	12.12	1.841639	0.32513	.	.	ENSG00000164611	ENST00000352433;ENST00000517480;ENST00000520452;ENST00000393964	T;T;T;T	0.48836	0.8;0.8;0.8;0.8	5.58	2.64	0.31445	.	0.916504	0.09216	N	0.832580	T	0.53786	0.1818	L	0.57536	1.79	0.09310	N	1	P	0.49961	0.93	P	0.53988	0.739	T	0.39583	-0.9607	9	.	.	.	-1.7958	5.9857	0.19432	0.1401:0.6479:0.1356:0.0764	.	74	O95997	PTTG1_HUMAN	Y	74;84;74;74	ENSP00000344936:S74Y;ENSP00000431068:S84Y;ENSP00000430642:S74Y;ENSP00000377536:S74Y	.	S	+	2	0	PTTG1	159782423	0.001000	0.12720	0.004000	0.12327	0.028000	0.11728	0.362000	0.20284	1.313000	0.45069	0.655000	0.94253	TCT		0.428	PTTG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252677.1	NM_004219		47	59	1	0	4.0181e-32	1	4.50694e-32	47	59					A	159849845	C	A	159849845	3	1	435	1	0	0	0	0	1	0	0	0	12819	913	32	5	227	5	PTTG1	5	159849845	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	15068	159849845	21065415	2951	23876											
PTTG1	9232	broad.mit.edu	37	chr5	159854762	159854762	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cctgaagagcaccagattgcGcacctccccttgagtggagt	9	8	11	13	1	0	4	0	2	0	2	1	5	1	5	5	1	2	2	5	1	1	2	rs370650306		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:159854762G>A	ENST00000393964.1	+	4	814	c.411G>A	c.(409-411)gcG>gcA	p.A137A	PTTG1_ENST00000520452.1_Silent_p.A137A|PTTG1_ENST00000519287.1_3'UTR|PTTG1_ENST00000352433.5_Silent_p.A137A	NM_001282382.1	NP_001269311.1	O95997	PTTG1_HUMAN	pituitary tumor-transforming 1	137					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|chromosome organization (GO:0051276)|chromosome segregation (GO:0007059)|DNA repair (GO:0006281)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of endopeptidase activity (GO:0010951)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	cysteine-type endopeptidase inhibitor activity (GO:0004869)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|large_intestine(1)|lung(4)	6	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.116)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	OV - Ovarian serous cystadenocarcinoma(192;0.00219)|Epithelial(171;0.00348)|all cancers(165;0.0104)		ACCAGATTGCGCACCTCCCCT	0.522													G|||	1	0.000199681	0	0	5008	,	,		19596	0		0	False		,,,				2504	0.001					ENST00000393964.1																			0				breast(1)|large_intestine(1)|lung(4)	6						c.(409-411)gcG>gcA		pituitary tumor-transforming 1		G		0,4406		0,0,2203	105	98	100		411	-6.1	0	5		100	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	PTTG1	NM_004219.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		137/203	159854762	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	9232				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|chromosome organization|chromosome segregation|DNA repair|mitosis|spermatogenesis|transcription from RNA polymerase II promoter	cytosol|nucleus	cysteine-type endopeptidase inhibitor activity|sequence-specific DNA binding transcription factor activity|SH3 domain binding	g.chr5:159854762G>A	AF062649	CCDS4353.1	5q35.1	2014-08-04			ENSG00000164611	ENSG00000164611			9690	protein-coding gene	gene with protein product	"ESP1-associated protein 1", "tumor-transforming protein 1"	604147		TUTR1		9811450, 9892021	Standard	NM_004219		Approved	PTTG, HPTTG, EAP1, securin	uc003lyj.3	O95997	OTTHUMG00000130328	ENST00000393964.1:c.411G>A	5.37:g.159854762G>A						PTTG1_ENST00000519287.1_3'UTR|PTTG1_ENST00000352433.5_Silent_p.A137A|PTTG1_ENST00000520452.1_Silent_p.A137A	p.A137A			O95997	PTTG1_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	OV - Ovarian serous cystadenocarcinoma(192;0.00219)|Epithelial(171;0.00348)|all cancers(165;0.0104)	4	814	+	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.116)	137						Silent	SNP	ENST00000393964.1	37	c.411G>A	CCDS4353.1																																																																																				0.522	PTTG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252677.1	NM_004219		30	39	0	0	0	1	0	30	39					A	159854762	G	A	159854762	2	1	435	1	0	0	0	0	0	0	0	1	12819	1074	38	1		1	PTTG1	5	159854762	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	4917	159854762	21060498	2952	23877											
HMMR	3161	broad.mit.edu	37	chr5	162910328	162910328	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	actgaagaaattaacaagtgGcgtctcctctatgaagaact	15	10	8	8	1	2	4	0	2	2	2	3	4	2	4	1	1	2	0	1	1	7	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:162910328G>A	ENST00000358715.3	+	15	1773	c.1737G>A	c.(1735-1737)tgG>tgA	p.W579*	RP11-80G7.1_ENST00000521666.1_RNA|HMMR_ENST00000393915.4_Nonsense_Mutation_p.W580*|HMMR_ENST00000432118.2_Nonsense_Mutation_p.W493*|HMMR_ENST00000353866.3_Nonsense_Mutation_p.W564*|RP11-80G7.1_ENST00000514724.2_RNA			O75330	HMMR_HUMAN	hyaluronan-mediated motility receptor (RHAMM)	579					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan catabolic process (GO:0030214)|hyaluronan metabolic process (GO:0030212)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|membrane (GO:0016020)|plasma membrane (GO:0005886)	hyaluronic acid binding (GO:0005540)			cervix(1)|kidney(3)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	23	Renal(175;0.000281)	Medulloblastoma(196;0.00853)|all_neural(177;0.0408)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0296)|OV - Ovarian serous cystadenocarcinoma(192;0.0423)|Epithelial(171;0.0848)	Hyaluronan(DB08818)	TTAACAAGTGGCGTCTCCTCT	0.294																																						ENST00000416990.2																			0				cervix(1)|kidney(3)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	23						c.(1393-1395)tgG>tgA		hyaluronan-mediated motility receptor (RHAMM)							53	58	56					5																	162910328		2193	4296	6489	SO:0001587	stop_gained	3161					cell surface|cytoplasm	hyaluronic acid binding	g.chr5:162910328G>A	U29343	CCDS4362.1, CCDS4363.1, CCDS47334.1, CCDS47335.1	5q34	2013-09-19			ENSG00000072571	ENSG00000072571		"CD molecules"	5012	protein-coding gene	gene with protein product		600936					Standard	NM_001142556		Approved	RHAMM, CD168	uc003lzh.3	O75330	OTTHUMG00000130381	ENST00000358715.3:c.1737G>A	5.37:g.162910328G>A	ENSP00000351554:p.Trp579*					RP11-80G7.1_ENST00000521666.1_RNA|HMMR_ENST00000432118.2_Nonsense_Mutation_p.W493*|HMMR_ENST00000353866.3_Nonsense_Mutation_p.W564*|HMMR_ENST00000393915.4_Nonsense_Mutation_p.W580*|HMMR_ENST00000358715.3_Nonsense_Mutation_p.W579*|RP11-80G7.1_ENST00000514724.2_RNA	p.W465*			O75330	HMMR_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0296)|OV - Ovarian serous cystadenocarcinoma(192;0.0423)|Epithelial(171;0.0848)	15	1892	+	Renal(175;0.000281)	Medulloblastoma(196;0.00853)|all_neural(177;0.0408)	579					A8K3G2|B4E114|D3DQK9|D3DQL0|E9PCS0|Q32N02|Q92767	Nonsense_Mutation	SNP	ENST00000358715.3	37	c.1395G>A	CCDS4362.1	.	.	.	.	.	.	.	.	.	.	G	36	5.709255	0.96821	.	.	ENSG00000072571	ENST00000416990;ENST00000353866;ENST00000393915;ENST00000426586;ENST00000432118;ENST00000358715	.	.	.	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07325	T	0.83	-5.7486	19.8764	0.96873	0.0:0.0:1.0:0.0	.	.	.	.	X	465;564;580;556;493;579	.	ENSP00000185942:W564X	W	+	3	0	HMMR	162842906	1.000000	0.71417	1.000000	0.80357	0.770000	0.43624	6.969000	0.76092	2.768000	0.95171	0.655000	0.94253	TGG		0.294	HMMR-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000252752.1	NM_012484		8	49	0	0	0	1	0	8	49					A	162910328	G	A	162910328	4	1	435	1	0	0	0	0	0	1	0	0	7242	1212	42	3	1798	3	HMMR	5	162910328	Nonsense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	3055566	162910328	18004932	2953	23878											
ODZ2	57451	broad.mit.edu	37	chr5	167379716	167379716	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaactcactgaccaatcggcGgagtcagatccacgccccgg	10	5	11	15	4	2	2	2	1	0	1	4	4	3	3	4	3	1	0	4	3	2	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:167379716G>A	ENST00000518659.1	+	4	875	c.836G>A	c.(835-837)cGg>cAg	p.R279Q	CTC-353G13.1_ENST00000523050.1_RNA|TENM2_ENST00000520394.1_Missense_Mutation_p.R88Q|TENM2_ENST00000545108.1_Missense_Mutation_p.R279Q|TENM2_ENST00000519204.1_Missense_Mutation_p.R158Q|TENM2_ENST00000403607.2_Missense_Mutation_p.R112Q|TENM2_ENST00000520393.1_3'UTR	NM_001122679.1	NP_001116151.1	Q9NT68	TEN2_HUMAN	teneurin transmembrane protein 2	279	Teneurin N-terminal. {ECO:0000255|PROSITE-ProRule:PRU00694}.				axon guidance (GO:0007411)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|heterophilic cell-cell adhesion (GO:0007157)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of filopodium assembly (GO:0051491)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cell-cell junction (GO:0005911)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|endoplasmic reticulum (GO:0005783)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)										ACCAATCGGCGGAGTCAGATC	0.627																																						ENST00000519204.1																			0											c.(472-474)cGg>cAg		teneurin transmembrane protein 2							77	89	85					5																	167379716		2196	4283	6479	SO:0001583	missense	57451							g.chr5:167379716G>A	AB032953		5q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000145934	ENSG00000145934			29943	protein-coding gene	gene with protein product		610119	"odz, odd Oz/ten-m homolog 2 (Drosophila)"	ODZ2		10625539	Standard	NM_001122679		Approved	KIAA1127, Ten-M2	uc010jjd.3	Q9NT68	OTTHUMG00000162928	ENST00000518659.1:c.836G>A	5.37:g.167379716G>A	ENSP00000429430:p.Arg279Gln					CTC-353G13.1_ENST00000523050.1_RNA|TENM2_ENST00000403607.2_Missense_Mutation_p.R112Q|TENM2_ENST00000545108.1_Missense_Mutation_p.R279Q|TENM2_ENST00000520394.1_Missense_Mutation_p.R88Q|TENM2_ENST00000518659.1_Missense_Mutation_p.R279Q|TENM2_ENST00000520393.1_3'UTR	p.R158Q							3	591	+								Q9ULU2	Missense_Mutation	SNP	ENST00000518659.1	37	c.473G>A		.	.	.	.	.	.	.	.	.	.	G	23.0	4.357092	0.82243	.	.	ENSG00000145934	ENST00000518659;ENST00000545108;ENST00000519204;ENST00000520394;ENST00000403607	D;D;D;D;D	0.90133	-2.08;-2.07;-2.18;-2.62;-2.55	5.47	5.47	0.80525	Teneurin intracellular, N-terminal (2);	0.130194	0.49916	D	0.000123	D	0.94036	0.8089	L	0.50333	1.59	0.50313	D	0.999861	D;D;D	0.71674	0.997;0.997;0.998	D;D;D	0.75484	0.968;0.964;0.986	D	0.93916	0.7201	10	0.54805	T	0.06	.	19.3358	0.94319	0.0:0.0:1.0:0.0	.	279;88;158	Q9NT68;F8VNQ3;G3V106	TEN2_HUMAN;.;.	Q	279;279;158;88;112	ENSP00000429430:R279Q;ENSP00000438635:R279Q;ENSP00000428964:R158Q;ENSP00000427874:R88Q;ENSP00000384905:R112Q	ENSP00000384905:R112Q	R	+	2	0	ODZ2	167312294	1.000000	0.71417	1.000000	0.80357	0.161000	0.22273	9.439000	0.97543	2.567000	0.86603	0.563000	0.77884	CGG		0.627	TENM2-001	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000376096.1	NM_001122679		3	7	0	0	0	1	0	3	7					A	167379716	G	A	167379716	3	1	435	1	0	0	0	0	1	0	0	0	10835	1116	39	2	850	2	ODZ2	5	167379716	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	4469388	167379716	13535544	2954	23879											
ODZ2	57451	broad.mit.edu	37	chr5	167642259	167642259	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gagggaaggccatagatgcaAccctgatgagcccgagaggt	12	5	15	9	1	0	4	0	2	0	2	0	7	0	5	3	3	3	1	3	3	3	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:167642259A>G	ENST00000518659.1	+	21	4099	c.4060A>G	c.(4060-4062)Acc>Gcc	p.T1354A	TENM2_ENST00000520394.1_Missense_Mutation_p.T1115A|TENM2_ENST00000545108.1_Missense_Mutation_p.T1353A|TENM2_ENST00000519204.1_Missense_Mutation_p.T1233A|TENM2_ENST00000403607.2_Missense_Mutation_p.T1178A	NM_001122679.1	NP_001116151.1	Q9NT68	TEN2_HUMAN	teneurin transmembrane protein 2	1354					axon guidance (GO:0007411)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|heterophilic cell-cell adhesion (GO:0007157)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of filopodium assembly (GO:0051491)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cell-cell junction (GO:0005911)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|endoplasmic reticulum (GO:0005783)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)										CATAGATGCAACCCTGATGAG	0.542																																						ENST00000519204.1																			0											c.(3697-3699)Acc>Gcc		teneurin transmembrane protein 2							85	91	89					5																	167642259		1967	4163	6130	SO:0001583	missense	57451							g.chr5:167642259A>G	AB032953		5q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000145934	ENSG00000145934			29943	protein-coding gene	gene with protein product		610119	"odz, odd Oz/ten-m homolog 2 (Drosophila)"	ODZ2		10625539	Standard	NM_001122679		Approved	KIAA1127, Ten-M2	uc010jjd.3	Q9NT68	OTTHUMG00000162928	ENST00000518659.1:c.4060A>G	5.37:g.167642259A>G	ENSP00000429430:p.Thr1354Ala					TENM2_ENST00000403607.2_Missense_Mutation_p.T1178A|TENM2_ENST00000545108.1_Missense_Mutation_p.T1353A|TENM2_ENST00000520394.1_Missense_Mutation_p.T1115A|TENM2_ENST00000518659.1_Missense_Mutation_p.T1354A	p.T1233A							20	3815	+								Q9ULU2	Missense_Mutation	SNP	ENST00000518659.1	37	c.3697A>G		.	.	.	.	.	.	.	.	.	.	A	11.67	1.707252	0.30322	.	.	ENSG00000145934	ENST00000518659;ENST00000545108;ENST00000519204;ENST00000520394;ENST00000403607	D;D;D;D;D	0.90004	-2.6;-2.6;-2.6;-2.6;-2.6	4.88	4.88	0.63580	Six-bladed beta-propeller, TolB-like (1);	0.046508	0.85682	D	0.000000	D	0.82416	0.5032	L	0.33668	1.02	0.42457	D	0.992776	B;B;P	0.34639	0.112;0.068;0.461	B;B;B	0.31946	0.138;0.066;0.107	T	0.80721	-0.1256	10	0.23891	T	0.37	.	14.8194	0.70059	1.0:0.0:0.0:0.0	.	1353;1354;1115	F5H2D1;Q9NT68;F8VNQ3	.;TEN2_HUMAN;.	A	1354;1353;1233;1115;1178	ENSP00000429430:T1354A;ENSP00000438635:T1353A;ENSP00000428964:T1233A;ENSP00000427874:T1115A;ENSP00000384905:T1178A	ENSP00000384905:T1178A	T	+	1	0	ODZ2	167574837	1.000000	0.71417	0.883000	0.34634	0.432000	0.31715	7.277000	0.78572	1.956000	0.56807	0.533000	0.62120	ACC		0.542	TENM2-001	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000376096.1	NM_001122679		24	42	0	0	0	1	0	24	42					G	167642259	A	G	167642259	3	3	435	1	0	0	0	0	1	0	0	0	10835	43	2	4	4115	4	ODZ2	5	167642259	Missense_Mutation	SNP	A	TCGA-XK-AAIW-01A-11D-A41K-08	262543	167642259	13273001	2955	23880											
ODZ2	57451	broad.mit.edu	37	chr5	167643796	167643796	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgcagtagacaagaatgggCtcatgtactttgtcgatgcc	10	12	11	8	1	1	2	1	0	0	2	2	3	1	2	1	1	3	4	1	1	4	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:167643796C>T	ENST00000518659.1	+	22	4141	c.4102C>T	c.(4102-4104)Ctc>Ttc	p.L1368F	TENM2_ENST00000520394.1_Missense_Mutation_p.L1129F|TENM2_ENST00000545108.1_Missense_Mutation_p.L1367F|TENM2_ENST00000519204.1_Missense_Mutation_p.L1247F|TENM2_ENST00000403607.2_Missense_Mutation_p.L1192F	NM_001122679.1	NP_001116151.1	Q9NT68	TEN2_HUMAN	teneurin transmembrane protein 2	1368					axon guidance (GO:0007411)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|heterophilic cell-cell adhesion (GO:0007157)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of filopodium assembly (GO:0051491)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cell-cell junction (GO:0005911)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|endoplasmic reticulum (GO:0005783)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)										CAAGAATGGGCTCATGTACTT	0.537																																						ENST00000519204.1																			0											c.(3739-3741)Ctc>Ttc		teneurin transmembrane protein 2							91	92	91					5																	167643796		2046	4195	6241	SO:0001583	missense	57451							g.chr5:167643796C>T	AB032953		5q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000145934	ENSG00000145934			29943	protein-coding gene	gene with protein product		610119	"odz, odd Oz/ten-m homolog 2 (Drosophila)"	ODZ2		10625539	Standard	NM_001122679		Approved	KIAA1127, Ten-M2	uc010jjd.3	Q9NT68	OTTHUMG00000162928	ENST00000518659.1:c.4102C>T	5.37:g.167643796C>T	ENSP00000429430:p.Leu1368Phe					TENM2_ENST00000403607.2_Missense_Mutation_p.L1192F|TENM2_ENST00000545108.1_Missense_Mutation_p.L1367F|TENM2_ENST00000520394.1_Missense_Mutation_p.L1129F|TENM2_ENST00000518659.1_Missense_Mutation_p.L1368F	p.L1247F							21	3857	+								Q9ULU2	Missense_Mutation	SNP	ENST00000518659.1	37	c.3739C>T		.	.	.	.	.	.	.	.	.	.	C	14.95	2.688665	0.48097	.	.	ENSG00000145934	ENST00000518659;ENST00000545108;ENST00000519204;ENST00000520394;ENST00000403607	D;D;D;D;D	0.90324	-2.65;-2.65;-2.65;-2.65;-2.65	5.42	5.42	0.78866	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.85682	D	0.000000	D	0.90899	0.7140	N	0.15975	0.35	0.53688	D	0.999977	B;B;D	0.76494	0.289;0.19;0.999	B;B;D	0.80764	0.234;0.118;0.994	D	0.90094	0.4179	10	0.28530	T	0.3	.	19.2521	0.93929	0.0:1.0:0.0:0.0	.	1367;1368;1129	F5H2D1;Q9NT68;F8VNQ3	.;TEN2_HUMAN;.	F	1368;1367;1247;1129;1192	ENSP00000429430:L1368F;ENSP00000438635:L1367F;ENSP00000428964:L1247F;ENSP00000427874:L1129F;ENSP00000384905:L1192F	ENSP00000384905:L1192F	L	+	1	0	ODZ2	167576374	0.999000	0.42202	0.997000	0.53966	0.991000	0.79684	3.976000	0.56867	2.542000	0.85734	0.655000	0.94253	CTC		0.537	TENM2-001	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000376096.1	NM_001122679		13	34	0	0	0	1	0	13	34					T	167643796	C	T	167643796	3	4	435	1	0	0	0	0	1	0	0	0	10835	797	28	3	4161	3	ODZ2	5	167643796	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	1537	167643796	13271464	2956	23881											
ODZ2	57451	broad.mit.edu	37	chr5	167645468	167645468	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcggactgcgactgcaaaaaCgatgtcaattgcaactgcta	13	9	9	10	3	1	0	1	0	0	0	2	3	1	1	0	1	6	3	0	1	5	2	rs191685378		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:167645468C>T	ENST00000518659.1	+	23	4611	c.4572C>T	c.(4570-4572)aaC>aaT	p.N1524N	TENM2_ENST00000520394.1_Silent_p.N1285N|TENM2_ENST00000545108.1_Silent_p.N1523N|TENM2_ENST00000519204.1_Silent_p.N1403N|TENM2_ENST00000403607.2_Silent_p.N1348N	NM_001122679.1	NP_001116151.1	Q9NT68	TEN2_HUMAN	teneurin transmembrane protein 2	1524					axon guidance (GO:0007411)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|heterophilic cell-cell adhesion (GO:0007157)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of filopodium assembly (GO:0051491)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cell-cell junction (GO:0005911)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|endoplasmic reticulum (GO:0005783)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)										ACTGCAAAAACGATGTCAATT	0.493													.|||	1	0.000199681	0	0	5008	,	,		24454	0.001		0	False		,,,				2504	0					ENST00000519204.1																			0											c.(4207-4209)aaC>aaT		teneurin transmembrane protein 2							173	172	172					5																	167645468		2057	4208	6265	SO:0001819	synonymous_variant	57451							g.chr5:167645468C>T	AB032953		5q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000145934	ENSG00000145934			29943	protein-coding gene	gene with protein product		610119	"odz, odd Oz/ten-m homolog 2 (Drosophila)"	ODZ2		10625539	Standard	NM_001122679		Approved	KIAA1127, Ten-M2	uc010jjd.3	Q9NT68	OTTHUMG00000162928	ENST00000518659.1:c.4572C>T	5.37:g.167645468C>T						TENM2_ENST00000403607.2_Silent_p.N1348N|TENM2_ENST00000545108.1_Silent_p.N1523N|TENM2_ENST00000520394.1_Silent_p.N1285N|TENM2_ENST00000518659.1_Silent_p.N1524N	p.N1403N							22	4327	+								Q9ULU2	Silent	SNP	ENST00000518659.1	37	c.4209C>T																																																																																					0.493	TENM2-001	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000376096.1	NM_001122679		41	86	0	0	0	1	0	41	86					T	167645468	C	T	167645468	2	4	435	1	0	0	0	0	0	0	0	1	10835	535	19	1		1	ODZ2	5	167645468	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	1672	167645468	13269792	2957	23882											
ODZ2	57451	broad.mit.edu	37	chr5	167674683	167674683	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtgtgcgcctcatgcccttgCgctatgacctccgggatcgg	4	10	13	14	4	1	1	1	1	0	0	3	2	2	2	4	2	3	1	4	2	1	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:167674683C>T	ENST00000518659.1	+	27	6778	c.6739C>T	c.(6739-6741)Cgc>Tgc	p.R2247C	TENM2_ENST00000520394.1_Missense_Mutation_p.R2008C|TENM2_ENST00000545108.1_Missense_Mutation_p.R2246C|TENM2_ENST00000519204.1_Missense_Mutation_p.R2126C|TENM2_ENST00000403607.2_Missense_Mutation_p.R2071C	NM_001122679.1	NP_001116151.1	Q9NT68	TEN2_HUMAN	teneurin transmembrane protein 2	2247					axon guidance (GO:0007411)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|heterophilic cell-cell adhesion (GO:0007157)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of filopodium assembly (GO:0051491)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cell-cell junction (GO:0005911)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|endoplasmic reticulum (GO:0005783)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)										CATGCCCTTGCGCTATGACCT	0.547																																						ENST00000519204.1																			0											c.(6376-6378)Cgc>Tgc		teneurin transmembrane protein 2							50	51	51					5																	167674683		2151	4258	6409	SO:0001583	missense	57451							g.chr5:167674683C>T	AB032953		5q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000145934	ENSG00000145934			29943	protein-coding gene	gene with protein product		610119	"odz, odd Oz/ten-m homolog 2 (Drosophila)"	ODZ2		10625539	Standard	NM_001122679		Approved	KIAA1127, Ten-M2	uc010jjd.3	Q9NT68	OTTHUMG00000162928	ENST00000518659.1:c.6739C>T	5.37:g.167674683C>T	ENSP00000429430:p.Arg2247Cys					TENM2_ENST00000403607.2_Missense_Mutation_p.R2071C|TENM2_ENST00000545108.1_Missense_Mutation_p.R2246C|TENM2_ENST00000520394.1_Missense_Mutation_p.R2008C|TENM2_ENST00000518659.1_Missense_Mutation_p.R2247C	p.R2126C							26	6494	+								Q9ULU2	Missense_Mutation	SNP	ENST00000518659.1	37	c.6376C>T		.	.	.	.	.	.	.	.	.	.	C	22.5	4.302160	0.81136	.	.	ENSG00000145934	ENST00000518659;ENST00000545108;ENST00000519204;ENST00000520394;ENST00000403607	D;D;D;D;D	0.90324	-2.18;-2.17;-2.27;-2.62;-2.65	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	D	0.96426	0.8834	M	0.89658	3.05	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;0.995	D	0.96725	0.9535	10	0.72032	D	0.01	.	19.5848	0.95486	0.0:1.0:0.0:0.0	.	2246;2247;2008	F5H2D1;Q9NT68;F8VNQ3	.;TEN2_HUMAN;.	C	2247;2246;2126;2008;2071	ENSP00000429430:R2247C;ENSP00000438635:R2246C;ENSP00000428964:R2126C;ENSP00000427874:R2008C;ENSP00000384905:R2071C	ENSP00000384905:R2071C	R	+	1	0	ODZ2	167607261	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	6.080000	0.71299	2.636000	0.89361	0.561000	0.74099	CGC		0.547	TENM2-001	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000376096.1	NM_001122679		17	24	0	0	0	1	0	17	24					T	167674683	C	T	167674683	3	4	435	1	0	0	0	0	1	0	0	0	10835	768	27	1	6818	1	ODZ2	5	167674683	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	29215	167674683	13240577	2958	23883											
WWC1	23286	broad.mit.edu	37	chr5	167798441	167798441	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cttgccaggtacaccaaaccGctcacctttgctgactgcat	9	10	7	15	1	1	1	1	1	0	0	1	1	1	1	4	1	5	4	4	1	2	3	rs142947087	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:167798441G>A	ENST00000265293.4	+	2	634	c.132G>A	c.(130-132)ccG>ccA	p.P44P	WWC1_ENST00000521089.1_Silent_p.P44P	NM_001161661.1|NM_001161662.1|NM_015238.2	NP_001155133.1|NP_001155134.1|NP_056053.1	Q8IX03	KIBRA_HUMAN	WW and C2 domain containing 1	44					cell migration (GO:0016477)|establishment of cell polarity (GO:0030010)|hippo signaling (GO:0035329)|negative regulation of hippo signaling (GO:0035331)|negative regulation of organ growth (GO:0046621)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of MAPK cascade (GO:0043410)|regulation of hippo signaling (GO:0035330)|regulation of intracellular transport (GO:0032386)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|protein complex (GO:0043234)|ruffle membrane (GO:0032587)	kinase binding (GO:0019900)|protein complex scaffold (GO:0032947)|transcription coactivator activity (GO:0003713)			breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(1)|skin(4)	43	Renal(175;0.000212)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0399)|all_neural(177;0.0577)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0364)|Epithelial(171;0.0765)|OV - Ovarian serous cystadenocarcinoma(192;0.0918)		ACACCAAACCGCTCACCTTTG	0.517																																						ENST00000265293.4																			0				breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(1)|skin(4)	43						c.(130-132)ccG>ccA		WW and C2 domain containing 1		G	,,	0,4406		0,0,2203	194	134	154		132,132,132	-4.6	1	5	dbSNP_134	154	2,8598	2.2+/-6.3	1,0,4299	no	coding-synonymous,coding-synonymous,coding-synonymous	WWC1	NM_001161661.1,NM_001161662.1,NM_015238.2	,,	1,0,6502	AA,AG,GG		0.0233,0.0,0.0154	,,	44/1120,44/1119,44/1114	167798441	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	23286				cell migration|positive regulation of MAPKKK cascade|regulation of hippo signaling cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perinuclear region of cytoplasm|ruffle membrane	protein binding|transcription coactivator activity	g.chr5:167798441G>A	AF506799	CCDS4366.1, CCDS54945.1	5q34	2014-06-13	2006-11-09		ENSG00000113645	ENSG00000113645		"WW, C2 and coiled-coil domain containing"	29435	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 168"	610533	"WW, C2 and coiled-coil domain containing 1"			10048485, 12559952	Standard	NM_001161661		Approved	KIBRA, KIAA0869, PPP1R168	uc011den.2	Q8IX03	OTTHUMG00000130408	ENST00000265293.4:c.132G>A	5.37:g.167798441G>A						WWC1_ENST00000521089.1_Silent_p.P44P	p.P44P	NM_001161661.1|NM_001161662.1|NM_015238.2	NP_001155133.1|NP_001155134.1|NP_056053.1	Q8IX03	KIBRA_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0364)|Epithelial(171;0.0765)|OV - Ovarian serous cystadenocarcinoma(192;0.0918)	2	634	+	Renal(175;0.000212)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0399)|all_neural(177;0.0577)	44					B4DK05|O94946|Q6MZX4|Q6Y2F8|Q7Z4G8|Q8WVM4|Q9BT29	Silent	SNP	ENST00000265293.4	37	c.132G>A	CCDS4366.1	.	.	.	.	.	.	.	.	.	.	G	10.66	1.412274	0.25465	0.0	2.33E-4	ENSG00000113645	ENST00000393895	.	.	.	5.63	-4.63	0.03359	.	.	.	.	.	T	0.40398	0.1115	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.39761	-0.9598	4	.	.	.	.	4.3377	0.11094	0.5552:0.2053:0.1433:0.0962	.	.	.	.	T	6	.	.	A	+	1	0	WWC1	167731019	0.029000	0.19370	0.977000	0.42913	0.997000	0.91878	-0.777000	0.04669	-0.577000	0.05967	0.561000	0.74099	GCT		0.517	WWC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000252791.2	NM_015238		6	12	0	0	0	1	0	6	12					A	167798441	G	A	167798441	2	1	435	1	0	0	0	0	0	0	0	1	17408	1074	38	1		1	WWC1	5	167798441	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	123758	167798441	13116819	2959	23884											
SLIT3	6586	broad.mit.edu	37	chr5	168114118	168114118	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgtagccagggacacactcGcagctggaacataggcagag	12	5	13	11	1	0	1	0	0	0	1	1	3	0	3	1	3	3	4	1	3	3	2	rs148473454	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:168114118G>A	ENST00000519560.1	-	30	3599	c.3180C>T	c.(3178-3180)tgC>tgT	p.C1060C	SLIT3_ENST00000404867.3_Silent_p.C1060C|SLIT3_ENST00000332966.8_Silent_p.C1067C	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053	O75094	SLIT3_HUMAN	slit homolog 3 (Drosophila)	1060	EGF-like 4. {ECO:0000255|PROSITE- ProRule:PRU00076}.				apoptotic process involved in luteolysis (GO:0061364)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|cellular response to hormone stimulus (GO:0032870)|negative chemotaxis (GO:0050919)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of gene expression (GO:0010629)|organ morphogenesis (GO:0009887)|response to cortisol (GO:0051414)|Roundabout signaling pathway (GO:0035385)	extracellular space (GO:0005615)|mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)|Roundabout binding (GO:0048495)	p.C1060C(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GGACACACTCGCAGCTGGAAC	0.612													G|||	8	0.00159744	0.0061	0	5008	,	,		21132	0		0	False		,,,				2504	0				Ovarian(29;311 847 10864 17279 24903)	ENST00000519560.1																			1	Substitution - coding silent(1)	p.C1060C(1)	lung(1)	endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100						c.(3178-3180)tgC>tgT		slit homolog 3 (Drosophila)		G		12,4394	19.1+/-41.9	0,12,2191	53	49	51		3180	-2.8	0.8	5	dbSNP_134	51	0,8600		0,0,4300	no	coding-synonymous	SLIT3	NM_003062.2		0,12,6491	AA,AG,GG		0.0,0.2724,0.0923		1060/1524	168114118	12,12994	2203	4300	6503	SO:0001819	synonymous_variant	6586				apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway	extracellular space|mitochondrion	calcium ion binding|Roundabout binding	g.chr5:168114118G>A	AB011538	CCDS4369.1, CCDS64311.1	5q35	2008-07-18	2001-11-28		ENSG00000184347	ENSG00000184347			11087	protein-coding gene	gene with protein product		603745	"slit (Drosophila) homolog 3"	SLIL2		9693030, 9813312	Standard	NM_001271946		Approved	slit2, MEGF5, SLIT1, Slit-3	uc010jjg.4	O75094	OTTHUMG00000130409	ENST00000519560.1:c.3180C>T	5.37:g.168114118G>A						SLIT3_ENST00000404867.3_Silent_p.C1060C|SLIT3_ENST00000332966.8_Silent_p.C1067C	p.C1060C	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053.1	O75094	SLIT3_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		30	3599	-	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	1060			EGF-like 4.		A6H8U9|J3KNP3|O95804|Q9UFH5	Silent	SNP	ENST00000519560.1	37	c.3180C>T	CCDS4369.1																																																																																				0.612	SLIT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252792.4	NM_003062		8	15	0	0	0	1	0	8	15					A	168114118	G	A	168114118	2	1	435	1	0	0	0	0	0	0	0	1	14741	1079	38	1		1	SLIT3	5	168114118	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	315677	168114118	12801142	2960	23885											
CCDC99	54908	broad.mit.edu	37	chr5	169031117	169031117	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	taaagaaggaaaagaaacttCaagcaaattggaaaaagaaa	25	5	8	3	0	1	3	1	0	0	3	1	5	1	5	0	2	2	1	0	2	11	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:169031117C>T	ENST00000265295.4	+	12	2003	c.1724C>T	c.(1723-1725)tCa>tTa	p.S575L		NM_017785.4	NP_060255.3			spindle apparatus coiled-coil protein 1																		AAAGAAACTTCAAGCAAATTG	0.363																																						ENST00000265295.4																			0											c.(1723-1725)tCa>tTa		spindle apparatus coiled-coil protein 1							69	76	74					5																	169031117		2203	4300	6503	SO:0001583	missense	54908							g.chr5:169031117C>T	BC012568	CCDS4370.1	5q35.1	2012-09-27	2012-09-27	2012-09-27	ENSG00000040275	ENSG00000040275			26010	protein-coding gene	gene with protein product	"spindly homolog (Drosophila)"		"coiled-coil domain containing 99"	CCDC99		20427577	Standard	NM_017785		Approved	FLJ20364, hSpindly	uc003mae.4	Q96EA4	OTTHUMG00000130438	ENST00000265295.4:c.1724C>T	5.37:g.169031117C>T	ENSP00000265295:p.Ser575Leu						p.S575L	NM_017785.4	NP_060255.3					12	2003	+									Missense_Mutation	SNP	ENST00000265295.4	37	c.1724C>T	CCDS4370.1	.	.	.	.	.	.	.	.	.	.	C	14.80	2.642290	0.47153	.	.	ENSG00000040275	ENST00000265295;ENST00000274631	T	0.30448	1.53	5.84	5.84	0.93424	.	0.774581	0.12502	N	0.463234	T	0.16385	0.0394	N	0.08118	0	0.09310	N	0.999999	B;B	0.11235	0.002;0.004	B;B	0.12837	0.006;0.008	T	0.14200	-1.0481	10	0.22706	T	0.39	-0.6176	9.2718	0.37675	0.1458:0.7801:0.0:0.0741	.	497;575	B4E393;Q96EA4	.;SPDLY_HUMAN	L	575;476	ENSP00000265295:S575L	ENSP00000265295:S575L	S	+	2	0	CCDC99	168963695	0.997000	0.39634	0.968000	0.41197	0.997000	0.91878	2.149000	0.42244	2.779000	0.95612	0.650000	0.86243	TCA		0.363	SPDL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252829.2	NM_017785		24	33	0	0	0	1	0	24	33					T	169031117	C	T	169031117	3	4	435	1	0	0	0	0	1	0	0	0	2876	838	29	3	1766	3	CCDC99	5	169031117	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	916999	169031117	11884143	2961	23886											
DOCK2	1794	broad.mit.edu	37	chr5	169122822	169122822	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccaggatcttggaaacaaaGacctcaacagggataaaatt	17	7	8	9	0	2	1	1	0	1	1	2	4	2	4	2	3	2	0	2	3	5	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:169122822G>T	ENST00000256935.8	+	10	939	c.859G>T	c.(859-861)Gac>Tac	p.D287Y		NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	287					actin cytoskeleton organization (GO:0030036)|alpha-beta T cell proliferation (GO:0046633)|chemotaxis (GO:0006935)|establishment of T cell polarity (GO:0001768)|immunological synapse formation (GO:0001771)|macropinocytosis (GO:0044351)|membrane raft polarization (GO:0001766)|myeloid dendritic cell activation involved in immune response (GO:0002277)|negative thymic T cell selection (GO:0045060)|positive regulation of phagocytosis (GO:0050766)|positive thymic T cell selection (GO:0045059)|regulation of defense response to virus by virus (GO:0050690)|small GTPase mediated signal transduction (GO:0007264)|viral process (GO:0016032)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rac GTPase activator activity (GO:0030675)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|T cell receptor binding (GO:0042608)	p.D287Y(1)		NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TGGAAACAAAGACCTCAACAG	0.418																																						ENST00000256935.8																			1	Substitution - Missense(1)	p.D287Y(1)	lung(1)	NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160						c.(859-861)Gac>Tac		dedicator of cytokinesis 2							93	99	97					5																	169122822		2203	4300	6503	SO:0001583	missense	1794				actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding	g.chr5:169122822G>T	BC016996	CCDS4371.1	5q35.1	2008-02-05			ENSG00000134516	ENSG00000134516			2988	protein-coding gene	gene with protein product		603122	"dedicator of cyto-kinesis 2"				Standard	NM_004946		Approved	KIAA0209	uc003maf.3	Q92608	OTTHUMG00000130437	ENST00000256935.8:c.859G>T	5.37:g.169122822G>T	ENSP00000256935:p.Asp287Tyr						p.D287Y	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		10	939	+	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	287					Q2M3I0|Q96AK7	Missense_Mutation	SNP	ENST00000256935.8	37	c.859G>T	CCDS4371.1	.	.	.	.	.	.	.	.	.	.	G	27.3	4.815168	0.90790	.	.	ENSG00000134516	ENST00000256935	T	0.18338	2.22	5.98	5.98	0.97165	.	0.000000	0.85682	D	0.000000	T	0.54549	0.1865	M	0.91196	3.185	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.62348	-0.6873	10	0.87932	D	0	.	20.4581	0.99154	0.0:0.0:1.0:0.0	.	287	Q92608	DOCK2_HUMAN	Y	287	ENSP00000256935:D287Y	ENSP00000256935:D287Y	D	+	1	0	DOCK2	169055400	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.593000	0.98250	2.835000	0.97688	0.650000	0.86243	GAC		0.418	DOCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252828.2	NM_004946		37	63	1	0	2.87052e-16	1	3.15041e-16	37	63					T	169122822	G	T	169122822	3	4	435	1	0	0	0	0	1	0	0	0	4687	942	33	5	897	5	DOCK2	5	169122822	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	91705	169122822	11792438	2962	23887											
DOCK2	1794	broad.mit.edu	37	chr5	169129425	169129425	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgcgcggaggatggcaaaacGctgcctgtaagggactcact	10	7	14	10	3	1	0	1	0	0	0	1	3	1	3	1	4	3	3	1	4	3	1	rs144520292		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:169129425G>A	ENST00000256935.8	+	14	1457	c.1377G>A	c.(1375-1377)acG>acA	p.T459T	DOCK2_ENST00000520908.1_5'Flank|DOCK2_ENST00000540750.1_5'Flank	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	459	DHR-1.				actin cytoskeleton organization (GO:0030036)|alpha-beta T cell proliferation (GO:0046633)|chemotaxis (GO:0006935)|establishment of T cell polarity (GO:0001768)|immunological synapse formation (GO:0001771)|macropinocytosis (GO:0044351)|membrane raft polarization (GO:0001766)|myeloid dendritic cell activation involved in immune response (GO:0002277)|negative thymic T cell selection (GO:0045060)|positive regulation of phagocytosis (GO:0050766)|positive thymic T cell selection (GO:0045059)|regulation of defense response to virus by virus (GO:0050690)|small GTPase mediated signal transduction (GO:0007264)|viral process (GO:0016032)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rac GTPase activator activity (GO:0030675)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|T cell receptor binding (GO:0042608)			NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			ATGGCAAAACGCTGCCTGTAA	0.502											OREG0017017	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G|||	1	0.000199681	0	0	5008	,	,		19645	0.001		0	False		,,,				2504	0					ENST00000256935.8																			0				NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160						c.(1375-1377)acG>acA		dedicator of cytokinesis 2							182	136	151					5																	169129425		2203	4300	6503	SO:0001819	synonymous_variant	1794				actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding	g.chr5:169129425G>A	BC016996	CCDS4371.1	5q35.1	2008-02-05			ENSG00000134516	ENSG00000134516			2988	protein-coding gene	gene with protein product		603122	"dedicator of cyto-kinesis 2"				Standard	NM_004946		Approved	KIAA0209	uc003maf.3	Q92608	OTTHUMG00000130437	ENST00000256935.8:c.1377G>A	5.37:g.169129425G>A			OREG0017017	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1875		p.T459T	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		14	1457	+	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	459			DHR-1.		Q2M3I0|Q96AK7	Silent	SNP	ENST00000256935.8	37	c.1377G>A	CCDS4371.1																																																																																				0.502	DOCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252828.2	NM_004946		13	29	0	0	0	1	0	13	29					A	169129425	G	A	169129425	2	1	435	1	0	0	0	0	0	0	0	1	4687	1074	38	1		1	DOCK2	5	169129425	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	6603	169129425	11785835	2963	23888											
DOCK2	1794	broad.mit.edu	37	chr5	169474577	169474577	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggcccaaaccagactactttGctgttggatactacggccag	10	9	10	12	1	0	1	0	0	0	1	0	2	0	2	3	3	5	2	3	3	4	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:169474577G>A	ENST00000256935.8	+	40	4110	c.4030G>A	c.(4030-4032)Gct>Act	p.A1344T	DOCK2_ENST00000520908.1_Missense_Mutation_p.A836T|DOCK2_ENST00000523351.1_3'UTR|DOCK2_ENST00000540750.1_Missense_Mutation_p.A405T	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	1344	DHR-2.|Interaction with CRKL.				actin cytoskeleton organization (GO:0030036)|alpha-beta T cell proliferation (GO:0046633)|chemotaxis (GO:0006935)|establishment of T cell polarity (GO:0001768)|immunological synapse formation (GO:0001771)|macropinocytosis (GO:0044351)|membrane raft polarization (GO:0001766)|myeloid dendritic cell activation involved in immune response (GO:0002277)|negative thymic T cell selection (GO:0045060)|positive regulation of phagocytosis (GO:0050766)|positive thymic T cell selection (GO:0045059)|regulation of defense response to virus by virus (GO:0050690)|small GTPase mediated signal transduction (GO:0007264)|viral process (GO:0016032)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rac GTPase activator activity (GO:0030675)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|T cell receptor binding (GO:0042608)			NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			AGACTACTTTGCTGTTGGATA	0.522																																						ENST00000256935.8																			0				NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160						c.(4030-4032)Gct>Act		dedicator of cytokinesis 2							96	94	95					5																	169474577		2203	4300	6503	SO:0001583	missense	1794				actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding	g.chr5:169474577G>A	BC016996	CCDS4371.1	5q35.1	2008-02-05			ENSG00000134516	ENSG00000134516			2988	protein-coding gene	gene with protein product		603122	"dedicator of cyto-kinesis 2"				Standard	NM_004946		Approved	KIAA0209	uc003maf.3	Q92608	OTTHUMG00000130437	ENST00000256935.8:c.4030G>A	5.37:g.169474577G>A	ENSP00000256935:p.Ala1344Thr					DOCK2_ENST00000520908.1_Missense_Mutation_p.A836T|DOCK2_ENST00000523351.1_3'UTR|DOCK2_ENST00000540750.1_Missense_Mutation_p.A405T	p.A1344T	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		40	4110	+	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	1344			DHR-2.|Interaction with CRKL.		Q2M3I0|Q96AK7	Missense_Mutation	SNP	ENST00000256935.8	37	c.4030G>A	CCDS4371.1	.	.	.	.	.	.	.	.	.	.	G	26.4	4.732602	0.89482	.	.	ENSG00000134516	ENST00000256935;ENST00000520908;ENST00000540750	T;T;T	0.08634	3.72;3.36;3.07	5.45	4.58	0.56647	.	0.000000	0.85682	D	0.000000	T	0.32645	0.0836	M	0.82630	2.6	0.41391	D	0.987614	D;D	0.89917	1.0;0.999	D;D	0.81914	0.995;0.971	T	0.29610	-1.0006	10	0.72032	D	0.01	.	16.2643	0.82568	0.0:0.1329:0.8671:0.0	.	836;1344	E7ERW7;Q92608	.;DOCK2_HUMAN	T	1344;836;405	ENSP00000256935:A1344T;ENSP00000429283:A836T;ENSP00000438827:A405T	ENSP00000256935:A1344T	A	+	1	0	DOCK2	169407155	1.000000	0.71417	0.975000	0.42487	0.976000	0.68499	9.869000	0.99810	1.278000	0.44430	0.655000	0.94253	GCT		0.522	DOCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252828.2	NM_004946		24	38	0	0	0	1	0	24	38					A	169474577	G	A	169474577	3	1	435	1	0	0	0	0	1	0	0	0	4687	1319	46	3	4188	3	DOCK2	5	169474577	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	345152	169474577	11440683	2964	23889											
FOXI1	2299	broad.mit.edu	37	chr5	169533417	169533417	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctcagccagatctaccagtaCgtggccgacaacttcccctt	9	9	7	16	2	2	1	1	0	1	1	3	2	3	1	5	1	4	1	5	1	3	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:169533417C>T	ENST00000306268.6	+	1	517	c.456C>T	c.(454-456)taC>taT	p.Y152Y	FOXI1_ENST00000449804.2_Silent_p.Y152Y			Q12951	FOXI1_HUMAN	forkhead box I1	152					embryo development (GO:0009790)|inner ear morphogenesis (GO:0042472)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding, bending (GO:0008301)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	Renal(175;0.000159)|Lung NSC(126;0.0267)|all_lung(126;0.04)	Medulloblastoma(196;0.0109)|all_neural(177;0.0298)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TCTACCAGTACGTGGCCGACA	0.602									Pendred syndrome																													ENST00000449804.2																			0				breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35						c.(454-456)taC>taT		forkhead box I1							50	47	48					5																	169533417		2203	4300	6503	SO:0001819	synonymous_variant	2299	Pendred syndrome	Familial Cancer Database	Goiter-Deafness syndrome	epidermal cell fate specification|otic placode formation|pattern specification process|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding	g.chr5:169533417C>T	BC029778	CCDS4372.1, CCDS47337.1	5q34	2008-02-05			ENSG00000168269	ENSG00000168269		"Forkhead boxes"	3815	protein-coding gene	gene with protein product		601093		FKHL10		7957066, 8825632	Standard	NM_144769		Approved	FREAC6	uc003mai.4	Q12951	OTTHUMG00000130436	ENST00000306268.6:c.456C>T	5.37:g.169533417C>T						FOXI1_ENST00000306268.6_Silent_p.Y152Y	p.Y152Y	NM_012188.4|NM_144769.2	NP_036320.2|NP_658982.1	Q12951	FOXI1_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		1	501	+	Renal(175;0.000159)|Lung NSC(126;0.0267)|all_lung(126;0.04)	Medulloblastoma(196;0.0109)|all_neural(177;0.0298)	152					Q14518|Q66SR7|Q8N6L8	Silent	SNP	ENST00000306268.6	37	c.456C>T	CCDS4372.1																																																																																				0.602	FOXI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252827.2	NM_144769, NM_012188		6	14	0	0	0	1	0	6	14					T	169533417	C	T	169533417	2	4	435	1	0	0	0	0	0	0	0	1	6009	547	19	1		1	FOXI1	5	169533417	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	58840	169533417	11381843	2965	23890											
GABRP	2568	broad.mit.edu	37	chr5	170235671	170235671	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtatttcattttggaaacCtacgttccttccactttcct	7	18	4	12	1	1	0	1	0	0	0	4	1	4	1	4	1	2	2	4	1	3	8			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:170235671C>A	ENST00000518525.1	+	9	1211	c.747C>A	c.(745-747)acC>acA	p.T249T	GABRP_ENST00000265294.4_Silent_p.T249T|GABRP_ENST00000519598.1_Silent_p.T249T|GABRP_ENST00000519385.1_Silent_p.T249T			O00591	GBRP_HUMAN	gamma-aminobutyric acid (GABA) A receptor, pi	249					signal transduction (GO:0007165)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			NS(1)|breast(1)|cervix(1)|endometrium(5)|large_intestine(4)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	29	Renal(175;0.000159)|Lung NSC(126;0.0122)|all_lung(126;0.0193)	Medulloblastoma(196;0.0109)|all_neural(177;0.0298)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)		Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	TTTTGGAAACCTACGTTCCTT	0.428																																						ENST00000518525.1																			0				NS(1)|breast(1)|cervix(1)|endometrium(5)|large_intestine(4)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	29						c.(745-747)acC>acA		gamma-aminobutyric acid (GABA) A receptor, pi							244	218	227					5																	170235671		2203	4300	6503	SO:0001819	synonymous_variant	2568					cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chr5:170235671C>A	U95367	CCDS4375.1, CCDS75368.1	5q35.1	2012-06-22			ENSG00000094755	ENSG00000094755		"GABA receptors", "Ligand-gated ion channels / GABA(A) receptors"	4089	protein-coding gene	gene with protein product	"GABA(A) receptor, pi"	602729				9182563	Standard	NM_014211		Approved		uc003mau.3	O00591	OTTHUMG00000130443	ENST00000518525.1:c.747C>A	5.37:g.170235671C>A						GABRP_ENST00000519385.1_Silent_p.T249T|GABRP_ENST00000519598.1_Silent_p.T249T|GABRP_ENST00000265294.4_Silent_p.T249T	p.T249T			O00591	GBRP_HUMAN	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)		9	1211	+	Renal(175;0.000159)|Lung NSC(126;0.0122)|all_lung(126;0.0193)	Medulloblastoma(196;0.0109)|all_neural(177;0.0298)	249					A8KA36|D3DQL2|Q32MJ1	Silent	SNP	ENST00000518525.1	37	c.747C>A	CCDS4375.1																																																																																				0.428	GABRP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252834.3	NM_014211		21	29	1	0	1.96292e-10	1	2.09789e-10	21	29					A	170235671	C	A	170235671	2	1	435	1	0	0	0	0	0	0	0	1	6174	668	24	5		5	GABRP	5	170235671	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	702254	170235671	10679589	2966	23891											
RANBP17	64901	broad.mit.edu	37	chr5	170640638	170640638	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	aacaggctttataaaaggtaCccaacgtaccttccccttct	12	11	5	13	1	1	0	0	0	1	0	2	0	2	0	4	2	4	3	4	2	7	7			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:170640638C>T	ENST00000523189.1	+	21	2399	c.2235C>T	c.(2233-2235)taC>taT	p.Y745Y	RANBP17_ENST00000521759.1_3'UTR	NM_022897.3	NP_075048.1	Q9H2T7	RBP17_HUMAN	RAN binding protein 17	745					mRNA transport (GO:0051028)|protein import into nucleus (GO:0006606)	cytoplasm (GO:0005737)|nuclear pore (GO:0005643)	GTP binding (GO:0005525)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	50	Renal(175;0.000159)|Lung NSC(126;0.00751)|all_lung(126;0.0123)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			ATAAAAGGTACCCAACGTACC	0.398			T	TRD@	ALL																																	ENST00000523189.1				Dom	yes		5	5q34	64901	T	RAN binding protein 17			L	TRD@		ALL		0				breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	50						c.(2233-2235)taC>taT		RAN binding protein 17							132	127	129					5																	170640638		2203	4300	6503	SO:0001819	synonymous_variant	64901				mRNA transport|protein import into nucleus|transmembrane transport	cytoplasm|nuclear pore	GTP binding|protein transporter activity	g.chr5:170640638C>T	AF222747	CCDS34287.1	5q34	2009-01-12			ENSG00000204764	ENSG00000204764			14428	protein-coding gene	gene with protein product		606141				11024021	Standard	NM_022897		Approved		uc003mba.3	Q9H2T7	OTTHUMG00000163203	ENST00000523189.1:c.2235C>T	5.37:g.170640638C>T						RANBP17_ENST00000521759.1_3'UTR	p.Y745Y	NM_022897.3	NP_075048.1	Q9H2T7	RBP17_HUMAN	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)		21	2399	+	Renal(175;0.000159)|Lung NSC(126;0.00751)|all_lung(126;0.0123)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	745					Q8IU74	Silent	SNP	ENST00000523189.1	37	c.2235C>T	CCDS34287.1																																																																																				0.398	RANBP17-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000372036.1	NM_022897		42	78	0	0	0	1	0	42	78					T	170640638	C	T	170640638	2	4	435	1	0	0	0	0	0	0	0	1	13027	518	18	3		3	RANBP17	5	170640638	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	404967	170640638	10274622	2967	23892											
STK10	6793	broad.mit.edu	37	chr5	171482621	171482621	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cttctcacgctgctcagctgCgctgcccccgccgttgatgt	3	11	10	17	4	2	1	2	1	1	0	3	1	2	1	3	0	4	5	3	0	0	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:171482621C>T	ENST00000176763.5	-	16	2840	c.2497G>A	c.(2497-2499)Gca>Aca	p.A833T		NM_005990.3	NP_005981.3	O94804	STK10_HUMAN	serine/threonine kinase 10	833	Gln-rich.				cell cycle (GO:0007049)|lymphocyte aggregation (GO:0071593)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of lymphocyte migration (GO:2000401)|signal transduction by phosphorylation (GO:0023014)	extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|polo kinase kinase activity (GO:0042801)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(6)|pancreas(1)|prostate(1)|testis(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	47	Renal(175;0.000159)|Lung NSC(126;0.0056)|all_lung(126;0.0094)	Medulloblastoma(196;0.00868)|all_neural(177;0.026)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			TGCTCAGCTGCGCTGCCCCCG	0.652																																						ENST00000176763.5																			0				breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(6)|pancreas(1)|prostate(1)|testis(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	47						c.(2497-2499)Gca>Aca		serine/threonine kinase 10							30	25	27					5																	171482621		2203	4300	6503	SO:0001583	missense	6793						ATP binding|protein serine/threonine kinase activity	g.chr5:171482621C>T	AB015718	CCDS34290.1	5q35.1	2008-07-18			ENSG00000072786	ENSG00000072786			11388	protein-coding gene	gene with protein product		603919				10199912	Standard	NM_005990		Approved	LOK, PRO2729	uc003mbo.1	O94804	OTTHUMG00000163265	ENST00000176763.5:c.2497G>A	5.37:g.171482621C>T	ENSP00000176763:p.Ala833Thr						p.A833T	NM_005990.3	NP_005981.3	O94804	STK10_HUMAN	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)		16	2840	-	Renal(175;0.000159)|Lung NSC(126;0.0056)|all_lung(126;0.0094)	Medulloblastoma(196;0.00868)|all_neural(177;0.026)	833			Gln-rich.		A6ND35|B2R8F5|B3KMY1|Q6NSK0|Q9UIW4	Missense_Mutation	SNP	ENST00000176763.5	37	c.2497G>A	CCDS34290.1	.	.	.	.	.	.	.	.	.	.	C	11.47	1.649511	0.29336	.	.	ENSG00000072786	ENST00000176763;ENST00000545839	T	0.30714	1.52	5.23	4.35	0.52113	.	0.187402	0.47093	D	0.000242	T	0.40767	0.1130	L	0.50333	1.59	0.43959	D	0.996639	P	0.48998	0.918	P	0.52909	0.713	T	0.21999	-1.0229	10	0.49607	T	0.09	.	13.5904	0.61957	0.0:0.8427:0.1572:0.0	.	833	O94804	STK10_HUMAN	T	833	ENSP00000176763:A833T	ENSP00000176763:A833T	A	-	1	0	STK10	171415226	0.194000	0.23325	0.596000	0.28811	0.085000	0.17905	0.789000	0.26886	1.202000	0.43218	0.561000	0.74099	GCA		0.652	STK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372374.2	NM_005990		10	7	0	0	0	1	0	10	7					T	171482621	C	T	171482621	3	4	435	1	0	0	0	0	1	0	0	0	15285	768	27	1	425	1	STK10	5	171482621	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	841983	171482621	9432639	2968	23893											
MSX2	4488	broad.mit.edu	37	chr5	174156454	174156454	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tccagcttcagtctccctttCcccatcagctcgcccctgca	5	11	5	20	1	3	0	2	0	1	0	7	0	5	0	6	0	3	3	6	0	0	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:174156454C>T	ENST00000239243.6	+	2	799	c.672C>T	c.(670-672)ttC>ttT	p.F224F		NM_002449.4	NP_002440.2	P35548	MSX2_HUMAN	msh homeobox 2	224					activation of meiosis (GO:0090427)|anagen (GO:0042640)|anterior/posterior pattern specification (GO:0009952)|BMP signaling pathway involved in heart development (GO:0061312)|bone trabecula formation (GO:0060346)|branching involved in mammary gland duct morphogenesis (GO:0060444)|cellular response to estradiol stimulus (GO:0071392)|cellular response to growth factor stimulus (GO:0071363)|chondrocyte development (GO:0002063)|cranial suture morphogenesis (GO:0060363)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic nail plate morphogenesis (GO:0035880)|enamel mineralization (GO:0070166)|endochondral bone growth (GO:0003416)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|frontal suture morphogenesis (GO:0060364)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of CREB transcription factor activity (GO:0032792)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of keratinocyte differentiation (GO:0045617)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|negative regulation of transcription, DNA-templated (GO:0045892)|osteoblast development (GO:0002076)|osteoblast differentiation (GO:0001649)|outflow tract septum morphogenesis (GO:0003148)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of catagen (GO:0051795)|positive regulation of mesenchymal cell apoptotic process (GO:2001055)|positive regulation of osteoblast differentiation (GO:0045669)|signal transduction involved in regulation of gene expression (GO:0023019)|wound healing, spreading of epidermal cells (GO:0035313)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity (GO:0000982)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding (GO:0043565)|transcription cofactor activity (GO:0003712)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)	10	Renal(175;0.000159)|Lung NSC(126;0.0196)|all_lung(126;0.0303)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			GTCTCCCTTTCCCCATCAGCT	0.567																																						ENST00000239243.6																			0				breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)	10						c.(670-672)ttC>ttT		msh homeobox 2							64	62	63					5																	174156454		2203	4300	6503	SO:0001819	synonymous_variant	4488				cranial suture morphogenesis|negative regulation of transcription, DNA-dependent|osteoblast differentiation	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	g.chr5:174156454C>T	D26145	CCDS4392.1	5q35.2	2011-06-20	2006-11-21		ENSG00000120149	ENSG00000120149		"Homeoboxes / ANTP class : NKL subclass"	7392	protein-coding gene	gene with protein product	"craniosynostosis, type 2"	123101	"msh (Drosophila) homeo box homolog 2", "parietal foramina 1", "msh homeobox homolog 2 (Drosophila)"	PFM1		8668339, 8786091	Standard	XM_006714868		Approved	CRS2, FPP, HOX8, MSH, PFM	uc003mcy.3	P35548	OTTHUMG00000130556	ENST00000239243.6:c.672C>T	5.37:g.174156454C>T							p.F224F	NM_002449.4	NP_002440.2	P35548	MSX2_HUMAN	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)		2	799	+	Renal(175;0.000159)|Lung NSC(126;0.0196)|all_lung(126;0.0303)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214)	224					D3DQN1|Q53XM4|Q9UD60	Silent	SNP	ENST00000239243.6	37	c.672C>T	CCDS4392.1																																																																																				0.567	MSX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252981.3			14	24	0	0	0	1	0	14	24					T	174156454	C	T	174156454	2	4	435	1	0	0	0	0	0	0	0	1	9896	854	30	3		3	MSX2	5	174156454	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	2673833	174156454	6758806	2969	23894											
HRH2	3274	broad.mit.edu	37	chr5	175111083	175111083	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggctatgccaactcagccCtgaaccccatcctgtatgct	8	10	8	15	0	1	1	1	1	0	0	2	1	2	1	5	1	5	3	5	1	4	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:175111083C>A	ENST00000231683.2	+	1	2620	c.847C>A	c.(847-849)Ctg>Atg	p.L283M	HRH2_ENST00000377291.2_Missense_Mutation_p.L283M	NM_022304.2	NP_071640.1	P25021	HRH2_HUMAN	histamine receptor H2	283					digestive tract development (GO:0048565)|epithelial cell morphogenesis (GO:0003382)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|gastrin-induced gastric acid secretion (GO:0001698)|gland development (GO:0048732)|histamine-induced gastric acid secretion (GO:0001697)|immune response (GO:0006955)|memory (GO:0007613)|positive regulation of vasoconstriction (GO:0045907)|regulation of synaptic plasticity (GO:0048167)|visual learning (GO:0008542)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	histamine receptor activity (GO:0004969)	p.L283M(1)		breast(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(10)|ovary(1)	22	all_cancers(89;0.00805)|Renal(175;0.000269)|Lung NSC(126;0.00419)|all_lung(126;0.00711)	Medulloblastoma(196;0.0208)|all_neural(177;0.0277)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)	Colorectal(1;0.0154)|COAD - Colon adenocarcinoma(1;0.149)	Amitriptyline(DB00321)|Asenapine(DB06216)|Betazole(DB00272)|Cimetidine(DB00501)|Doxepin(DB01142)|Epinastine(DB00751)|Famotidine(DB00927)|Histamine Phosphate(DB00667)|Loxapine(DB00408)|Methantheline(DB00940)|Nizatidine(DB00585)|Olanzapine(DB00334)|Ranitidine(DB00863)|Roxatidine acetate(DB08806)|Tolazoline(DB00797)	CAACTCAGCCCTGAACCCCAT	0.562																																						ENST00000231683.2																			1	Substitution - Missense(1)	p.L283M(1)	lung(1)	breast(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(10)|ovary(1)	22						c.(847-849)Ctg>Atg		histamine receptor H2	Betazole(DB00272)|Cimetidine(DB00501)|Doxepin(DB01142)|Epinastine(DB00751)|Famotidine(DB00927)|Histamine Phosphate(DB00667)|Nizatidine(DB00585)|Ranitidine(DB00863)						122	95	104					5																	175111083		2203	4300	6503	SO:0001583	missense	0				G-protein signaling, coupled to cyclic nucleotide second messenger|immune response	integral to plasma membrane	histamine receptor activity	g.chr5:175111083C>A		CCDS4395.1, CCDS47344.1	5q35	2012-08-08			ENSG00000113749	ENSG00000113749		"GPCR / Class A : Histamine receptors"	5183	protein-coding gene	gene with protein product		142703				1714721	Standard	NM_022304		Approved		uc003mdc.4	P25021	OTTHUMG00000130660	ENST00000231683.2:c.847C>A	5.37:g.175111083C>A	ENSP00000231683:p.Leu283Met					HRH2_ENST00000377291.2_Missense_Mutation_p.L283M	p.L283M	NM_022304.2	NP_071640.1	P25021	HRH2_HUMAN	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)	Colorectal(1;0.0154)|COAD - Colon adenocarcinoma(1;0.149)	1	2620	+	all_cancers(89;0.00805)|Renal(175;0.000269)|Lung NSC(126;0.00419)|all_lung(126;0.00711)	Medulloblastoma(196;0.0208)|all_neural(177;0.0277)|all_hematologic(541;0.214)	283					B5BUP7|Q14464|Q7Z5R9	Missense_Mutation	SNP	ENST00000231683.2	37	c.847C>A	CCDS4395.1	.	.	.	.	.	.	.	.	.	.	C	18.04	3.535020	0.64972	.	.	ENSG00000113749	ENST00000377291;ENST00000231683	T;T	0.49432	0.78;0.78	5.06	1.25	0.21368	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000002	T	0.58380	0.2118	M	0.64170	1.965	0.49483	D	0.999796	P;D	0.65815	0.933;0.995	P;D	0.70227	0.897;0.968	T	0.52313	-0.8592	10	0.31617	T	0.26	.	9.2017	0.37263	0.0:0.6981:0.0:0.3019	.	283;283	P25021;Q7Z5R9	HRH2_HUMAN;.	M	283	ENSP00000366506:L283M;ENSP00000231683:L283M	ENSP00000231683:L283M	L	+	1	2	HRH2	175043689	0.999000	0.42202	0.997000	0.53966	0.994000	0.84299	2.106000	0.41835	0.188000	0.20168	0.555000	0.69702	CTG		0.562	HRH2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253151.1			14	30	1	0	8.60227e-14	1	9.36079e-14	14	30					A	175111083	C	A	175111083	3	1	435	1	0	0	0	0	1	0	0	0	7356	680	24	5	849	5	HRH2	5	175111083	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	954629	175111083	5804177	2970	23895											
CPLX2	10814	broad.mit.edu	37	chr5	175306900	175306900	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcagaggagaaagcagcccTggagcagccctgcgagggga	12	2	17	10	1	0	2	0	0	0	2	0	6	0	4	2	4	6	3	2	4	1	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:175306900T>A	ENST00000359546.4	+	5	900	c.257T>A	c.(256-258)cTg>cAg	p.L86Q	CPLX2_ENST00000515094.1_Missense_Mutation_p.L86Q|CPLX2_ENST00000393745.3_Missense_Mutation_p.L86Q	NM_001008220.1|NM_006650.3	NP_001008221.1|NP_006641.1	Q6PUV4	CPLX2_HUMAN	complexin 2	86	Interaction with the SNARE complex. {ECO:0000250}.				cell differentiation (GO:0030154)|mast cell degranulation (GO:0043303)|nervous system development (GO:0007399)|positive regulation of synaptic plasticity (GO:0031915)|regulation of exocytosis (GO:0017157)|synaptic vesicle exocytosis (GO:0016079)|vesicle docking involved in exocytosis (GO:0006904)	dendrite (GO:0030425)|mast cell granule (GO:0042629)|neuronal cell body (GO:0043025)|synapse (GO:0045202)|synaptobrevin 2-SNAP-25-syntaxin-1a-complexin II complex (GO:0070033)|synaptobrevin 2-SNAP-25-syntaxin-3-complexin complex (GO:0070554)				endometrium(3)|kidney(2)|lung(3)|ovary(2)	10	all_cancers(89;0.004)|Renal(175;0.000269)|Lung NSC(126;0.00441)|all_lung(126;0.00747)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			AAAGCAGCCCTGGAGCAGCCC	0.657																																						ENST00000359546.4																			0				endometrium(3)|kidney(2)|lung(3)|ovary(2)	10						c.(256-258)cTg>cAg		complexin 2							35	42	40					5																	175306900		2202	4300	6502	SO:0001583	missense	10814				mast cell degranulation|positive regulation of synaptic plasticity|vesicle docking involved in exocytosis	cytosol		g.chr5:175306900T>A	U35100	CCDS4396.1	5q35.2	2008-05-23			ENSG00000145920	ENSG00000145920			2310	protein-coding gene	gene with protein product		605033				7553862, 16162394	Standard	XM_005265798		Approved	CPX-2, DKFZp547D155	uc003mdf.1	Q6PUV4	OTTHUMG00000130665	ENST00000359546.4:c.257T>A	5.37:g.175306900T>A	ENSP00000352544:p.Leu86Gln					CPLX2_ENST00000393745.3_Missense_Mutation_p.L86Q|CPLX2_ENST00000515094.1_Missense_Mutation_p.L86Q	p.L86Q	NM_001008220.1|NM_006650.3	NP_001008221.1|NP_006641.1	Q6PUV4	CPLX2_HUMAN	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)		5	900	+	all_cancers(89;0.004)|Renal(175;0.000269)|Lung NSC(126;0.00441)|all_lung(126;0.00747)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214)	86			Interaction with the SNARE complex (By similarity).		B2RAG2|O09056|Q13329|Q28184|Q52M15|Q64386	Missense_Mutation	SNP	ENST00000359546.4	37	c.257T>A	CCDS4396.1	.	.	.	.	.	.	.	.	.	.	t	14.58	2.578575	0.46006	.	.	ENSG00000145920	ENST00000359546;ENST00000509837;ENST00000393745;ENST00000393746;ENST00000514150;ENST00000515094	.	.	.	5.38	5.38	0.77491	.	0.128343	0.52532	U	0.000075	T	0.62672	0.2447	L	0.42245	1.32	0.52501	D	0.999959	B	0.30406	0.278	B	0.43274	0.414	T	0.59830	-0.7380	9	0.28530	T	0.3	.	13.3679	0.60696	0.0:0.0:0.0:1.0	.	86	Q6PUV4	CPLX2_HUMAN	Q	86	.	ENSP00000352544:L86Q	L	+	2	0	CPLX2	175239506	1.000000	0.71417	0.983000	0.44433	0.501000	0.33797	7.927000	0.87577	2.048000	0.60808	0.451000	0.29950	CTG		0.657	CPLX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253157.2			6	14	0	0	0	1	0	6	14					A	175306900	T	A	175306900	3	1	435	1	0	0	0	0	1	0	0	0	3805	1580	55	5	267	5	CPLX2	5	175306900	Missense_Mutation	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	195817	175306900	5608360	2971	23896											
C5orf25	375484	broad.mit.edu	37	chr5	175722173	175722173	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cattacccaccaagagaaatCgtggctcacatcatccagaa	15	7	6	13	1	2	2	2	0	0	2	4	3	3	2	3	1	1	1	3	1	4	1	rs573337112		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:175722173C>T	ENST00000443967.1	+	5	1922	c.1515C>T	c.(1513-1515)atC>atT	p.I505I	SIMC1_ENST00000341199.6_Silent_p.I90I|SIMC1_ENST00000430704.2_Silent_p.I90I|SIMC1_ENST00000429602.2_Silent_p.I524I			Q8NDZ2	SIMC1_HUMAN	SUMO-interacting motifs containing 1	505							SUMO polymer binding (GO:0032184)										CAAGAGAAATCGTGGCTCACA	0.433													T|||	1	0.000199681	0	0	5008	,	,		16216	0		0.001	False		,,,				2504	0					ENST00000443967.1																			0											c.(1513-1515)atC>atT		SUMO-interacting motifs containing 1							34	34	34					5																	175722173		2201	4296	6497	SO:0001819	synonymous_variant	375484							g.chr5:175722173C>T	BC037298	CCDS4398.2	5q35.2	2013-08-14	2012-11-14	2012-11-14	ENSG00000170085	ENSG00000170085			24779	protein-coding gene	gene with protein product	"oocyte maturation associated 1", "platform element for inhibition of autolytic degradation"		"chromosome 5 open reading frame 25"	C5orf25		23086935, 23707407	Standard	NM_198567		Approved	FLJ44216, OOMA1, PLEIAD	uc003mds.4	Q8NDZ2	OTTHUMG00000130663	ENST00000443967.1:c.1515C>T	5.37:g.175722173C>T						SIMC1_ENST00000429602.2_Silent_p.I524I|SIMC1_ENST00000430704.2_Silent_p.I90I|SIMC1_ENST00000341199.6_Silent_p.I90I	p.I505I							5	1922	+								J3KQQ8|Q6NXN8|Q6ZTU4|Q8IZ15	Silent	SNP	ENST00000443967.1	37	c.1515C>T																																																																																					0.433	SIMC1-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000253155.2	NM_198567		21	32	0	0	0	1	0	21	32					T	175722173	C	T	175722173	2	4	435	1	0	0	0	0	0	0	0	1	2288	874	31	2		2	C5orf25	5	175722173	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	415273	175722173	5193087	2972	23897											
C5orf25	375484	broad.mit.edu	37	chr5	175763860	175763860	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctactttctgaataattctaCgtcactgctcaagtgtcagg	10	14	7	10	1	5	1	3	1	2	0	5	1	5	1	0	1	3	1	0	1	5	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:175763860C>T	ENST00000443967.1	+	10	2659	c.2252C>T	c.(2251-2253)aCg>aTg	p.T751M	SIMC1_ENST00000332772.4_Missense_Mutation_p.T212M|SIMC1_ENST00000341199.6_Missense_Mutation_p.T336M|SIMC1_ENST00000430704.2_Missense_Mutation_p.T336M			Q8NDZ2	SIMC1_HUMAN	SUMO-interacting motifs containing 1	751							SUMO polymer binding (GO:0032184)										AATAATTCTACGTCACTGCTC	0.502																																						ENST00000443967.1																			0											c.(2251-2253)aCg>aTg		SUMO-interacting motifs containing 1							66	66	66					5																	175763860		2203	4300	6503	SO:0001583	missense	375484							g.chr5:175763860C>T	BC037298	CCDS4398.2	5q35.2	2013-08-14	2012-11-14	2012-11-14	ENSG00000170085	ENSG00000170085			24779	protein-coding gene	gene with protein product	"oocyte maturation associated 1", "platform element for inhibition of autolytic degradation"		"chromosome 5 open reading frame 25"	C5orf25		23086935, 23707407	Standard	NM_198567		Approved	FLJ44216, OOMA1, PLEIAD	uc003mds.4	Q8NDZ2	OTTHUMG00000130663	ENST00000443967.1:c.2252C>T	5.37:g.175763860C>T	ENSP00000406571:p.Thr751Met					SIMC1_ENST00000430704.2_Missense_Mutation_p.T336M|SIMC1_ENST00000341199.6_Missense_Mutation_p.T336M|SIMC1_ENST00000332772.4_Missense_Mutation_p.T212M	p.T751M							10	2659	+								J3KQQ8|Q6NXN8|Q6ZTU4|Q8IZ15	Missense_Mutation	SNP	ENST00000443967.1	37	c.2252C>T		.	.	.	.	.	.	.	.	.	.	C	12.22	1.871762	0.33069	.	.	ENSG00000170085	ENST00000341199;ENST00000430704;ENST00000443967;ENST00000332772	T;T;T;T	0.57273	0.41;0.41;0.41;0.41	4.86	3.96	0.45880	.	0.235397	0.33980	N	0.004368	T	0.64136	0.2571	L	0.48642	1.525	0.58432	D	0.999996	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.80764	0.966;0.95;0.994	T	0.66693	-0.5859	10	0.87932	D	0	-7.3412	12.0603	0.53559	0.0:0.8261:0.1739:0.0	.	212;336;751	Q8NDZ2-4;Q8NDZ2-3;Q8NDZ2	.;.;CE025_HUMAN	M	336;336;751;212	ENSP00000342075:T336M;ENSP00000409287:T336M;ENSP00000406571:T751M;ENSP00000331311:T212M	ENSP00000331311:T212M	T	+	2	0	C5orf25	175696466	0.848000	0.29623	0.760000	0.31359	0.192000	0.23643	2.459000	0.45023	1.215000	0.43411	0.467000	0.42956	ACG		0.502	SIMC1-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000253155.2	NM_198567		15	26	0	0	0	1	0	15	26					T	175763860	C	T	175763860	3	4	435	1	0	0	0	0	1	0	0	0	2288	536	19	1	1033	1	C5orf25	5	175763860	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	41687	175763860	5151400	2973	23898											
CLTB	1212	broad.mit.edu	37	chr5	175824951	175824951	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagctcttgcagccgtttcCtctgctcctctcgccacttg	3	13	7	18	2	3	0	0	0	3	0	6	0	5	0	5	0	4	4	5	0	0	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:175824951C>A	ENST00000310418.4	-	3	537	c.332G>T	c.(331-333)aGg>aTg	p.R111M	CLTB_ENST00000345807.2_Missense_Mutation_p.R111M	NM_007097.3	NP_009028.1	P09497	CLCB_HUMAN	clathrin, light chain B	111	Involved in binding clathrin heavy chain.				intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	ciliary membrane (GO:0060170)|clathrin coat (GO:0030118)|clathrin coat of coated pit (GO:0030132)|clathrin coat of trans-Golgi network vesicle (GO:0030130)|trans-Golgi network (GO:0005802)	peptide binding (GO:0042277)|structural molecule activity (GO:0005198)			lung(1)	1	all_cancers(89;0.00522)|Renal(175;0.000269)|Lung NSC(126;0.0105)|all_lung(126;0.0168)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	Kidney(146;0.098)		CAGCCGTTTCCTCTGCTCCTC	0.657																																						ENST00000310418.4																			0				lung(1)	1						c.(331-333)aGg>aTg		clathrin, light chain B							96	105	102					5																	175824951		2203	4300	6503	SO:0001583	missense	1212				intracellular protein transport|vesicle-mediated transport	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle	protein binding|structural molecule activity	g.chr5:175824951C>A	M20470	CCDS4402.1, CCDS4403.1	5q35.2	2010-05-11	2010-05-11		ENSG00000175416	ENSG00000175416			2091	protein-coding gene	gene with protein product		118970	"clathrin, light polypeptide (Lcb)"			7713494	Standard	NM_007097		Approved	Lcb	uc003meh.4	P09497	OTTHUMG00000130662	ENST00000310418.4:c.332G>T	5.37:g.175824951C>A	ENSP00000309415:p.Arg111Met					CLTB_ENST00000345807.2_Missense_Mutation_p.R111M	p.R111M	NM_007097.3	NP_009028.1	P09497	CLCB_HUMAN	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	Kidney(146;0.098)	3	537	-	all_cancers(89;0.00522)|Renal(175;0.000269)|Lung NSC(126;0.0105)|all_lung(126;0.0168)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214)	111			Involved in binding clathrin heavy chain.		Q53Y37|Q6FHW1	Missense_Mutation	SNP	ENST00000310418.4	37	c.332G>T	CCDS4403.1	.	.	.	.	.	.	.	.	.	.	C	13.18	2.161191	0.38119	.	.	ENSG00000175416	ENST00000310418;ENST00000345807;ENST00000508425	.	.	.	4.33	-3.74	0.04385	.	0.310848	0.33712	N	0.004632	T	0.37679	0.1012	N	0.20685	0.6	0.25802	N	0.984495	B;D	0.58620	0.027;0.983	B;P	0.57776	0.043;0.827	T	0.46076	-0.9217	9	0.41790	T	0.15	.	13.8693	0.63608	0.0:0.1033:0.0:0.8967	.	111;111	P09497-2;P09497	.;CLCB_HUMAN	M	111;111;77	.	ENSP00000309415:R111M	R	-	2	0	CLTB	175757557	1.000000	0.71417	0.987000	0.45799	0.939000	0.58152	2.204000	0.42761	-0.680000	0.05211	-0.391000	0.06502	AGG		0.657	CLTB-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253153.1			33	60	1	0	5.71845e-15	1	6.25391e-15	33	60					A	175824951	C	A	175824951	3	1	435	1	0	0	0	0	1	0	0	0	3565	681	24	5	373	5	CLTB	5	175824951	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	61091	175824951	5090309	2974	23899											
CDHR2	54825	broad.mit.edu	37	chr5	176004552	176004552	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aggcagacggcgatggcggtGcaggtgagggctgctccggg	6	5	21	9	4	0	2	0	1	0	1	1	3	1	2	1	7	2	4	1	7	0	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:176004552G>A	ENST00000510636.1	+	13	1621	c.1347G>A	c.(1345-1347)gtG>gtA	p.V449V	CDHR2_ENST00000261944.5_Silent_p.V449V|CDHR2_ENST00000506348.1_Silent_p.V449V	NM_001171976.1	NP_001165447.1	Q9BYE9	CDHR2_HUMAN	cadherin-related family member 2	449	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|negative regulation of cell growth (GO:0030308)	cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1)	56						CGATGGCGGTGCAGGTGAGGG	0.697																																						ENST00000510636.1																			0				breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1)	56						c.(1345-1347)gtG>gtA		cadherin-related family member 2							34	38	36					5																	176004552		2202	4299	6501	SO:0001819	synonymous_variant	54825				homophilic cell adhesion|negative regulation of cell growth	apical plasma membrane|cell junction|integral to membrane	calcium ion binding|protein binding	g.chr5:176004552G>A	AB047004	CCDS34297.1	5q35.2	2011-07-01	2010-01-25	2010-01-25		ENSG00000074276		"Cadherins / Cadherin-related"	18231	protein-coding gene	gene with protein product	"protocadherin LKC"		"protocadherin 24"	PCDH24		11082270, 12117771	Standard	NM_001171976		Approved	PC-LKC, FLJ20124, FLJ20383, PCLKC	uc003mem.2	Q9BYE9		ENST00000510636.1:c.1347G>A	5.37:g.176004552G>A						CDHR2_ENST00000506348.1_Silent_p.V449V|CDHR2_ENST00000261944.5_Silent_p.V449V	p.V449V	NM_001171976.1	NP_001165447.1	Q9BYE9	CDHR2_HUMAN			13	1621	+			449			Cadherin 4.		A1L3U4|A6NC80|Q9NXP8	Silent	SNP	ENST00000510636.1	37	c.1347G>A	CCDS34297.1																																																																																				0.697	CDHR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372201.1	NM_017675		6	14	0	0	0	1	0	6	14					A	176004552	G	A	176004552	2	1	435	1	0	0	0	0	0	0	0	1	3119	1306	46	3		3	CDHR2	5	176004552	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	179601	176004552	4910708	2975	23900											
CDHR2	54825	broad.mit.edu	37	chr5	176008535	176008535	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acagtgcttgtgtctgactgCggcgagcctgtcctcggcac	5	10	13	13	3	1	1	0	1	1	0	3	2	2	1	2	2	3	2	2	2	0	1	rs139851773		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:176008535C>T	ENST00000510636.1	+	17	2284	c.2010C>T	c.(2008-2010)tgC>tgT	p.C670C	CDHR2_ENST00000261944.5_Silent_p.C670C|CDHR2_ENST00000506348.1_Silent_p.C670C	NM_001171976.1	NP_001165447.1	Q9BYE9	CDHR2_HUMAN	cadherin-related family member 2	670	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|negative regulation of cell growth (GO:0030308)	cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1)	56						TGTCTGACTGCGGCGAGCCTG	0.637													C|||	1	0.000199681	8e-04	0	5008	,	,		17505	0		0	False		,,,				2504	0					ENST00000510636.1																			0				breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1)	56						c.(2008-2010)tgC>tgT		cadherin-related family member 2		C	,	1,4405	2.1+/-5.4	0,1,2202	49	51	50		2010,2010	-9.2	0	5	dbSNP_134	50	0,8598		0,0,4299	no	coding-synonymous,coding-synonymous	CDHR2	NM_001171976.1,NM_017675.4	,	0,1,6501	TT,TC,CC		0.0,0.0227,0.0077	,	670/1311,670/1311	176008535	1,13003	2203	4299	6502	SO:0001819	synonymous_variant	54825				homophilic cell adhesion|negative regulation of cell growth	apical plasma membrane|cell junction|integral to membrane	calcium ion binding|protein binding	g.chr5:176008535C>T	AB047004	CCDS34297.1	5q35.2	2011-07-01	2010-01-25	2010-01-25		ENSG00000074276		"Cadherins / Cadherin-related"	18231	protein-coding gene	gene with protein product	"protocadherin LKC"		"protocadherin 24"	PCDH24		11082270, 12117771	Standard	NM_001171976		Approved	PC-LKC, FLJ20124, FLJ20383, PCLKC	uc003mem.2	Q9BYE9		ENST00000510636.1:c.2010C>T	5.37:g.176008535C>T						CDHR2_ENST00000506348.1_Silent_p.C670C|CDHR2_ENST00000261944.5_Silent_p.C670C	p.C670C	NM_001171976.1	NP_001165447.1	Q9BYE9	CDHR2_HUMAN			17	2284	+			670			Cadherin 6.		A1L3U4|A6NC80|Q9NXP8	Silent	SNP	ENST00000510636.1	37	c.2010C>T	CCDS34297.1																																																																																				0.637	CDHR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372201.1	NM_017675		12	25	0	0	0	1	0	12	25					T	176008535	C	T	176008535	2	4	435	1	0	0	0	0	0	0	0	1	3119	776	27	1		1	CDHR2	5	176008535	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	3983	176008535	4906725	2976	23901											
CDHR2	54825	broad.mit.edu	37	chr5	176011468	176011468	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccagacggaagccaacaaccGcatcagcttcagcctgtcgg	11	5	10	15	3	2	1	2	0	0	1	3	2	2	2	4	2	5	2	4	2	3	1	rs199744196		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:176011468G>A	ENST00000510636.1	+	19	2460	c.2186G>A	c.(2185-2187)cGc>cAc	p.R729H	CDHR2_ENST00000261944.5_Missense_Mutation_p.R729H|CDHR2_ENST00000506348.1_Missense_Mutation_p.R729H	NM_001171976.1	NP_001165447.1	Q9BYE9	CDHR2_HUMAN	cadherin-related family member 2	729	Cadherin 7. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|negative regulation of cell growth (GO:0030308)	cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1)	56						GCCAACAACCGCATCAGCTTC	0.657													G|||	1	0.000199681	0	0	5008	,	,		18900	0		0.001	False		,,,				2504	0					ENST00000510636.1																			0				breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1)	56						c.(2185-2187)cGc>cAc		cadherin-related family member 2							110	108	109					5																	176011468		2203	4300	6503	SO:0001583	missense	54825				homophilic cell adhesion|negative regulation of cell growth	apical plasma membrane|cell junction|integral to membrane	calcium ion binding|protein binding	g.chr5:176011468G>A	AB047004	CCDS34297.1	5q35.2	2011-07-01	2010-01-25	2010-01-25		ENSG00000074276		"Cadherins / Cadherin-related"	18231	protein-coding gene	gene with protein product	"protocadherin LKC"		"protocadherin 24"	PCDH24		11082270, 12117771	Standard	NM_001171976		Approved	PC-LKC, FLJ20124, FLJ20383, PCLKC	uc003mem.2	Q9BYE9		ENST00000510636.1:c.2186G>A	5.37:g.176011468G>A	ENSP00000424565:p.Arg729His					CDHR2_ENST00000506348.1_Missense_Mutation_p.R729H|CDHR2_ENST00000261944.5_Missense_Mutation_p.R729H	p.R729H	NM_001171976.1	NP_001165447.1	Q9BYE9	CDHR2_HUMAN			19	2460	+			729			Cadherin 7.		A1L3U4|A6NC80|Q9NXP8	Missense_Mutation	SNP	ENST00000510636.1	37	c.2186G>A	CCDS34297.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	18.49	3.635093	0.67130	.	.	ENSG00000074276	ENST00000510636;ENST00000261944;ENST00000506348	T;T;T	0.54479	0.57;0.57;0.57	5.12	5.12	0.69794	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.72317	0.3445	M	0.66439	2.03	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.74962	-0.3485	9	0.72032	D	0.01	-23.9717	18.9313	0.92566	0.0:0.0:1.0:0.0	.	729	Q9BYE9	CDHR2_HUMAN	H	729	ENSP00000424565:R729H;ENSP00000261944:R729H;ENSP00000421078:R729H	ENSP00000261944:R729H	R	+	2	0	CDHR2	175944074	1.000000	0.71417	1.000000	0.80357	0.064000	0.16182	7.697000	0.84279	2.547000	0.85894	0.549000	0.68633	CGC		0.657	CDHR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372201.1	NM_017675		7	96	0	0	0	1	0	7	96					A	176011468	G	A	176011468	3	1	435	1	0	0	0	0	1	0	0	0	3119	1087	38	1	2256	1	CDHR2	5	176011468	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	2933	176011468	4903792	2977	23902											
CDHR2	54825	broad.mit.edu	37	chr5	176019772	176019772	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gatgtggacaagaacagtcaGgaaatcaaggcaagatgggg	16	5	15	5	0	2	2	2	0	0	2	2	5	2	4	0	5	1	1	0	5	5	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:176019772G>T	ENST00000510636.1	+	31	4057	c.3783G>T	c.(3781-3783)caG>caT	p.Q1261H	CDHR2_ENST00000261944.5_Missense_Mutation_p.Q1261H|CDHR2_ENST00000506348.1_Missense_Mutation_p.Q1261H	NM_001171976.1	NP_001165447.1	Q9BYE9	CDHR2_HUMAN	cadherin-related family member 2	1261					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|negative regulation of cell growth (GO:0030308)	cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1)	56						AGAACAGTCAGGAAATCAAGG	0.547																																						ENST00000510636.1																			0				breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1)	56						c.(3781-3783)caG>caT		cadherin-related family member 2							151	126	134					5																	176019772		2203	4300	6503	SO:0001583	missense	54825				homophilic cell adhesion|negative regulation of cell growth	apical plasma membrane|cell junction|integral to membrane	calcium ion binding|protein binding	g.chr5:176019772G>T	AB047004	CCDS34297.1	5q35.2	2011-07-01	2010-01-25	2010-01-25		ENSG00000074276		"Cadherins / Cadherin-related"	18231	protein-coding gene	gene with protein product	"protocadherin LKC"		"protocadherin 24"	PCDH24		11082270, 12117771	Standard	NM_001171976		Approved	PC-LKC, FLJ20124, FLJ20383, PCLKC	uc003mem.2	Q9BYE9		ENST00000510636.1:c.3783G>T	5.37:g.176019772G>T	ENSP00000424565:p.Gln1261His					CDHR2_ENST00000506348.1_Missense_Mutation_p.Q1261H|CDHR2_ENST00000261944.5_Missense_Mutation_p.Q1261H	p.Q1261H	NM_001171976.1	NP_001165447.1	Q9BYE9	CDHR2_HUMAN			31	4057	+			1261					A1L3U4|A6NC80|Q9NXP8	Missense_Mutation	SNP	ENST00000510636.1	37	c.3783G>T	CCDS34297.1	.	.	.	.	.	.	.	.	.	.	g	5.429	0.264243	0.10294	.	.	ENSG00000074276	ENST00000510636;ENST00000261944;ENST00000506348	T;T;T	0.56275	0.47;0.47;0.47	3.63	2.69	0.31865	.	.	.	.	.	T	0.33118	0.0852	N	0.24115	0.695	0.09310	N	1	B	0.25955	0.138	B	0.25405	0.06	T	0.17745	-1.0359	9	0.25751	T	0.34	-4.7353	4.45	0.11616	0.1433:0.2281:0.6286:0.0	.	1261	Q9BYE9	CDHR2_HUMAN	H	1261	ENSP00000424565:Q1261H;ENSP00000261944:Q1261H;ENSP00000421078:Q1261H	ENSP00000261944:Q1261H	Q	+	3	2	CDHR2	175952378	0.044000	0.20184	0.478000	0.27316	0.340000	0.28889	1.677000	0.37576	0.822000	0.34565	0.459000	0.35465	CAG		0.547	CDHR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372201.1	NM_017675		13	28	1	0	4.93089e-13	1	5.3475e-13	13	28					T	176019772	G	T	176019772	3	4	435	1	0	0	0	0	1	0	0	0	3119	991	35	5	3901	5	CDHR2	5	176019772	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	8304	176019772	4895488	2978	23903											
TSPAN17	26262	broad.mit.edu	37	chr5	176083709	176083709	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcgtgtccccaggagctggaGcagcagggcttcatccacac	8	6	13	14	1	1	0	1	0	0	0	3	2	3	2	3	3	3	4	3	3	0	1	rs200138829		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:176083709G>A	ENST00000503045.1	+	7	634	c.579G>A	c.(577-579)gaG>gaA	p.E193E	TSPAN17_ENST00000298564.10_Silent_p.E105E|TSPAN17_ENST00000508164.1_Silent_p.E213E|TSPAN17_ENST00000515708.1_Silent_p.E213E|TSPAN17_ENST00000310032.8_Silent_p.E216E|TSPAN17_ENST00000405525.2_Silent_p.E216E			Q96FV3	TSN17_HUMAN	tetraspanin 17	213					establishment of protein localization to organelle (GO:0072594)|protein ubiquitination (GO:0016567)	integral component of membrane (GO:0016021)|ubiquitin ligase complex (GO:0000151)	enzyme binding (GO:0019899)|ubiquitin-protein transferase activity (GO:0004842)			endometrium(4)|kidney(1)|large_intestine(2)|lung(5)|urinary_tract(1)	13	all_cancers(89;0.00141)|Renal(175;0.000269)|Lung NSC(126;0.00814)|all_lung(126;0.0133)	Medulloblastoma(196;0.00498)|all_neural(177;0.0212)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AGGAGCTGGAGCAGCAGGGCT	0.657																																						ENST00000298564.10																			0				endometrium(4)|kidney(1)|large_intestine(2)|lung(5)|urinary_tract(1)	13						c.(313-315)gaG>gaA		tetraspanin 17							108	98	101					5																	176083709		2203	4300	6503	SO:0001819	synonymous_variant	26262					integral to membrane|ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity	g.chr5:176083709G>A	AF174603	CCDS34298.1, CCDS47346.1, CCDS47346.2, CCDS54952.1	5q35.3	2013-02-14	2005-03-21	2005-03-21	ENSG00000048140	ENSG00000048140		"Tetraspanins"	13594	protein-coding gene	gene with protein product			"F-box only protein 23, transmembrane 4 superfamily member 17"	FBXO23, TM4SF17		10531035, 10531037	Standard	NM_012171		Approved	FBX23	uc003met.3	Q96FV3	OTTHUMG00000163230	ENST00000503045.1:c.579G>A	5.37:g.176083709G>A						TSPAN17_ENST00000503045.1_Silent_p.E193E|TSPAN17_ENST00000310032.8_Silent_p.E216E|TSPAN17_ENST00000515708.1_Silent_p.E213E|TSPAN17_ENST00000508164.1_Silent_p.E213E|TSPAN17_ENST00000405525.2_Silent_p.E216E	p.E105E			Q96FV3	TSN17_HUMAN	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		4	464	+	all_cancers(89;0.00141)|Renal(175;0.000269)|Lung NSC(126;0.00814)|all_lung(126;0.0133)	Medulloblastoma(196;0.00498)|all_neural(177;0.0212)	213					Q6NXF7|Q96S98|Q9UKB9	Silent	SNP	ENST00000503045.1	37	c.315G>A		.	.	.	.	.	.	.	.	.	.	G	8.189	0.795632	0.16327	.	.	ENSG00000048140	ENST00000507471	.	.	.	4.47	2.64	0.31445	.	.	.	.	.	T	0.55657	0.1934	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.49688	-0.8913	4	.	.	.	-14.8735	7.5701	0.27902	0.0901:0.0:0.7436:0.1663	.	.	.	.	N	146	.	.	S	+	2	0	TSPAN17	176016315	0.999000	0.42202	1.000000	0.80357	0.915000	0.54546	0.412000	0.21131	0.860000	0.35481	0.491000	0.48974	AGC		0.657	TSPAN17-008	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000372215.1			13	21	0	0	0	1	0	13	21					A	176083709	G	A	176083709	2	1	435	1	0	0	0	0	0	0	0	1	16638	962	34	3		3	TSPAN17	5	176083709	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	63937	176083709	4831551	2979	23904											
HK3	3101	broad.mit.edu	37	chr5	176310871	176310871	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	accacattcagctccactgcCtgcacacaaaaggatgctgc	12	7	7	15	0	1	0	1	0	0	0	2	1	2	1	3	1	5	3	3	1	2	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:176310871C>A	ENST00000292432.5	-	15	2045		c.e15-1			NM_002115.2	NP_002106.2	P52790	HXK3_HUMAN	hexokinase 3 (white cell)						carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|cellular glucose homeostasis (GO:0001678)|glucose 6-phosphate metabolic process (GO:0051156)|glucose transport (GO:0015758)|glycolytic process (GO:0006096)|hexose metabolic process (GO:0019318)|hexose transport (GO:0008645)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|protein complex (GO:0043234)	ATP binding (GO:0005524)|fructokinase activity (GO:0008865)|glucokinase activity (GO:0004340)|hexokinase activity (GO:0004396)|hormone binding (GO:0042562)|mannokinase activity (GO:0019158)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47	all_cancers(89;0.000104)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GCTCCACTGCCTGCACACAAA	0.582																																						ENST00000292432.5																			0				breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						c.e15-1		hexokinase 3 (white cell)							186	143	157					5																	176310871		2203	4300	6503	SO:0001630	splice_region_variant	3101				glucose transport|glycolysis|transmembrane transport	cytosol|membrane	ATP binding|glucokinase activity	g.chr5:176310871C>A		CCDS4407.1	5q35.2	2008-02-05			ENSG00000160883	ENSG00000160883	2.7.1.1		4925	protein-coding gene	gene with protein product		142570				8812439	Standard	NM_002115		Approved		uc003mfa.3	P52790	OTTHUMG00000130855	ENST00000292432.5:c.1954-1G>T	5.37:g.176310871C>A								NM_002115.2	NP_002106.2	P52790	HXK3_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		15	2045	-	all_cancers(89;0.000104)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)						Q8N1E7	Splice_Site	SNP	ENST00000292432.5	37		CCDS4407.1	.	.	.	.	.	.	.	.	.	.	C	19.33	3.806037	0.70682	.	.	ENSG00000160883	ENST00000292432;ENST00000514058	.	.	.	5.13	5.13	0.70059	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.5117	0.87762	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	HK3	176243477	1.000000	0.71417	1.000000	0.80357	0.891000	0.51852	7.472000	0.80996	2.667000	0.90743	0.462000	0.41574	.		0.582	HK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253428.1		Intron	27	54	1	0	4.22769e-11	1	4.54161e-11	27	54					A	176310871	C	A	176310871	5	1	435	1	0	0	0	0	0	0	1	0	7192	695	24	5	838	5	HK3	5	176310871	Splice_Site	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	227162	176310871	4604389	2980	23905											
HK3	3101	broad.mit.edu	37	chr5	176317707	176317707	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cacaccactgcacctaaaacCtttggtccaggaaatgaggg	13	7	9	12	0	0	1	0	1	0	0	1	2	1	2	4	3	2	1	4	3	3	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:176317707C>A	ENST00000292432.5	-	6	650	c.559G>T	c.(559-561)Ggt>Tgt	p.G187C		NM_002115.2	NP_002106.2	P52790	HXK3_HUMAN	hexokinase 3 (white cell)	187	Glucose-binding. {ECO:0000255}.|Hexokinase type-1 1.|Regulatory.				carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|cellular glucose homeostasis (GO:0001678)|glucose 6-phosphate metabolic process (GO:0051156)|glucose transport (GO:0015758)|glycolytic process (GO:0006096)|hexose metabolic process (GO:0019318)|hexose transport (GO:0008645)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|protein complex (GO:0043234)	ATP binding (GO:0005524)|fructokinase activity (GO:0008865)|glucokinase activity (GO:0004340)|hexokinase activity (GO:0004396)|hormone binding (GO:0042562)|mannokinase activity (GO:0019158)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47	all_cancers(89;0.000104)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CACCTAAAACCTTTGGTCCAG	0.607																																						ENST00000292432.5																			0				breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						c.(559-561)Ggt>Tgt		hexokinase 3 (white cell)							185	182	183					5																	176317707		2203	4300	6503	SO:0001583	missense	3101				glucose transport|glycolysis|transmembrane transport	cytosol|membrane	ATP binding|glucokinase activity	g.chr5:176317707C>A		CCDS4407.1	5q35.2	2008-02-05			ENSG00000160883	ENSG00000160883	2.7.1.1		4925	protein-coding gene	gene with protein product		142570				8812439	Standard	NM_002115		Approved		uc003mfa.3	P52790	OTTHUMG00000130855	ENST00000292432.5:c.559G>T	5.37:g.176317707C>A	ENSP00000292432:p.Gly187Cys						p.G187C	NM_002115.2	NP_002106.2	P52790	HXK3_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		6	650	-	all_cancers(89;0.000104)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	187			Glucose-binding (Potential).|Regulatory.		Q8N1E7	Missense_Mutation	SNP	ENST00000292432.5	37	c.559G>T	CCDS4407.1	.	.	.	.	.	.	.	.	.	.	C	17.48	3.399408	0.62177	.	.	ENSG00000160883	ENST00000292432	D	0.99259	-5.64	4.26	4.26	0.50523	Hexokinase, N-terminal (1);	0.000000	0.53938	D	0.000043	D	0.99309	0.9758	M	0.86502	2.82	0.33298	D	0.564386	D	0.61697	0.99	D	0.66847	0.947	D	0.99474	1.0946	10	0.87932	D	0	.	11.147	0.48436	0.0:0.9084:0.0:0.0916	.	187	P52790	HXK3_HUMAN	C	187	ENSP00000292432:G187C	ENSP00000292432:G187C	G	-	1	0	HK3	176250313	0.828000	0.29307	1.000000	0.80357	0.997000	0.91878	1.146000	0.31589	2.221000	0.72209	0.561000	0.74099	GGT		0.607	HK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253428.1			36	100	1	0	3.3946e-10	1	3.62385e-10	36	100					A	176317707	C	A	176317707	3	1	435	1	0	0	0	0	1	0	0	0	7192	681	24	5	2268	5	HK3	5	176317707	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	6836	176317707	4597553	2981	23906											
NSD1	64324	broad.mit.edu	37	chr5	176707813	176707813	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acagcggggttggggtctacGgacaaaaacagatattaaaa	16	7	12	6	2	1	1	0	0	1	1	1	2	1	2	0	5	3	1	0	5	6	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:176707813G>A	ENST00000439151.2	+	18	5915	c.5870G>A	c.(5869-5871)cGg>cAg	p.R1957Q	NSD1_ENST00000347982.4_Missense_Mutation_p.R1688Q|NSD1_ENST00000361032.4_Missense_Mutation_p.R1854Q|NSD1_ENST00000354179.4_Missense_Mutation_p.R1688Q	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	1957	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				gastrulation with mouth forming second (GO:0001702)|histone H3-K36 methylation (GO:0010452)|histone H4-K20 methylation (GO:0034770)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|estrogen receptor binding (GO:0030331)|histone methyltransferase activity (H3-K36 specific) (GO:0046975)|histone methyltransferase activity (H4-K20 specific) (GO:0042799)|retinoic acid receptor binding (GO:0042974)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription cofactor activity (GO:0003712)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		TGGGGTCTACGGACAAAAACA	0.418			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)																												ENST00000439151.2				Dom	yes		5	5q35	64324	T	nuclear receptor binding SET domain protein 1	yes	Sotos Syndrome	L	NUP98		AML		0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96						c.(5869-5871)cGg>cAg		nuclear receptor binding SET domain protein 1							67	68	67					5																	176707813		2203	4300	6503	SO:0001583	missense	64324	Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	Familial Cancer Database	Weaver-Smith syndrome;Cerebral Gigantism;BWS, Exomphalos-Macroglossia-Gigantism (EMG) syndrome, Wiedemann-Beckwith syndrome, WBS	negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding	g.chr5:176707813G>A	AK026066	CCDS4412.1, CCDS4413.1	5q35	2014-09-17	2003-03-12		ENSG00000165671	ENSG00000165671		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	14234	protein-coding gene	gene with protein product		606681	"Sotos syndrome"	STO		9628876, 11896389	Standard	NM_022455		Approved	ARA267, FLJ22263, KMT3B	uc003mfr.4	Q96L73	OTTHUMG00000130846	ENST00000439151.2:c.5870G>A	5.37:g.176707813G>A	ENSP00000395929:p.Arg1957Gln	HNSCC(47;0.14)				NSD1_ENST00000361032.4_Missense_Mutation_p.R1854Q|NSD1_ENST00000354179.4_Missense_Mutation_p.R1688Q|NSD1_ENST00000347982.4_Missense_Mutation_p.R1688Q	p.R1957Q	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)	18	5915	+	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	1957			SET.		Q96PD8|Q96RN7	Missense_Mutation	SNP	ENST00000439151.2	37	c.5870G>A	CCDS4412.1	.	.	.	.	.	.	.	.	.	.	G	14.40	2.524022	0.44866	.	.	ENSG00000165671	ENST00000354179;ENST00000439151;ENST00000347982;ENST00000361032	D;D;D;D	0.84070	-1.8;-1.8;-1.8;-1.8	5.92	5.04	0.67666	SET domain (3);	0.110656	0.41294	D	0.000910	T	0.77624	0.4158	M	0.83603	2.65	0.43222	D	0.995104	P;P;P	0.42993	0.797;0.797;0.701	B;B;B	0.26693	0.043;0.043;0.072	T	0.77720	-0.2482	10	0.33940	T	0.23	.	9.0674	0.36471	0.1602:0.0:0.8398:0.0	.	1688;1854;1957	Q96L73-2;Q96L73-3;Q96L73	.;.;NSD1_HUMAN	Q	1688;1957;1688;1854	ENSP00000346111:R1688Q;ENSP00000395929:R1957Q;ENSP00000343209:R1688Q;ENSP00000354310:R1854Q	ENSP00000343209:R1688Q	R	+	2	0	NSD1	176640419	0.998000	0.40836	0.883000	0.34634	0.937000	0.57800	5.407000	0.66363	2.801000	0.96364	0.650000	0.86243	CGG		0.418	NSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253412.2	NM_172349		25	29	0	0	0	1	0	25	29					A	176707813	G	A	176707813	3	1	435	1	0	0	0	0	1	0	0	0	10669	1116	39	2	5936	2	NSD1	5	176707813	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	390106	176707813	4207447	2982	23907											
NSD1	64324	broad.mit.edu	37	chr5	176719086	176719086	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgtggggatgctggccagctCgtctcctgcaagaaaccagg	8	8	14	11	1	1	1	0	0	1	1	3	2	1	2	3	4	4	3	3	4	2	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:176719086C>T	ENST00000439151.2	+	22	6435	c.6390C>T	c.(6388-6390)ctC>ctT	p.L2130L	NSD1_ENST00000347982.4_Silent_p.L1861L|NSD1_ENST00000361032.4_Silent_p.L2027L|NSD1_ENST00000354179.4_Silent_p.L1861L	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	2130					gastrulation with mouth forming second (GO:0001702)|histone H3-K36 methylation (GO:0010452)|histone H4-K20 methylation (GO:0034770)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|estrogen receptor binding (GO:0030331)|histone methyltransferase activity (H3-K36 specific) (GO:0046975)|histone methyltransferase activity (H4-K20 specific) (GO:0042799)|retinoic acid receptor binding (GO:0042974)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription cofactor activity (GO:0003712)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		CTGGCCAGCTCGTCTCCTGCA	0.507			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)																												ENST00000439151.2				Dom	yes		5	5q35	64324	T	nuclear receptor binding SET domain protein 1	yes	Sotos Syndrome	L	NUP98		AML		0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96						c.(6388-6390)ctC>ctT		nuclear receptor binding SET domain protein 1							91	74	80					5																	176719086		2203	4300	6503	SO:0001819	synonymous_variant	64324	Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	Familial Cancer Database	Weaver-Smith syndrome;Cerebral Gigantism;BWS, Exomphalos-Macroglossia-Gigantism (EMG) syndrome, Wiedemann-Beckwith syndrome, WBS	negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding	g.chr5:176719086C>T	AK026066	CCDS4412.1, CCDS4413.1	5q35	2014-09-17	2003-03-12		ENSG00000165671	ENSG00000165671		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	14234	protein-coding gene	gene with protein product		606681	"Sotos syndrome"	STO		9628876, 11896389	Standard	NM_022455		Approved	ARA267, FLJ22263, KMT3B	uc003mfr.4	Q96L73	OTTHUMG00000130846	ENST00000439151.2:c.6390C>T	5.37:g.176719086C>T		HNSCC(47;0.14)				NSD1_ENST00000361032.4_Silent_p.L2027L|NSD1_ENST00000354179.4_Silent_p.L1861L|NSD1_ENST00000347982.4_Silent_p.L1861L	p.L2130L	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)	22	6435	+	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	2130					Q96PD8|Q96RN7	Silent	SNP	ENST00000439151.2	37	c.6390C>T	CCDS4412.1																																																																																				0.507	NSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253412.2	NM_172349		10	17	0	0	0	1	0	10	17					T	176719086	C	T	176719086	2	4	435	1	0	0	0	0	0	0	0	1	10669	871	31	2		2	NSD1	5	176719086	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	11273	176719086	4196174	2983	23908											
NSD1	64324	broad.mit.edu	37	chr5	176720970	176720970	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaaactggatgggcgtctgTcttgtactgagcatgacccc	8	10	11	12	1	2	2	0	2	2	0	2	3	2	3	3	2	3	2	3	2	2	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:176720970T>C	ENST00000439151.2	+	23	6646	c.6601T>C	c.(6601-6603)Tct>Cct	p.S2201P	NSD1_ENST00000347982.4_Missense_Mutation_p.S1932P|NSD1_ENST00000361032.4_Missense_Mutation_p.S2098P|NSD1_ENST00000354179.4_Missense_Mutation_p.S1932P	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	2201					gastrulation with mouth forming second (GO:0001702)|histone H3-K36 methylation (GO:0010452)|histone H4-K20 methylation (GO:0034770)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|estrogen receptor binding (GO:0030331)|histone methyltransferase activity (H3-K36 specific) (GO:0046975)|histone methyltransferase activity (H4-K20 specific) (GO:0042799)|retinoic acid receptor binding (GO:0042974)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription cofactor activity (GO:0003712)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		TGGGCGTCTGTCTTGTACTGA	0.572			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)																												ENST00000439151.2				Dom	yes		5	5q35	64324	T	nuclear receptor binding SET domain protein 1	yes	Sotos Syndrome	L	NUP98		AML		0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96						c.(6601-6603)Tct>Cct		nuclear receptor binding SET domain protein 1							95	93	94					5																	176720970		2203	4300	6503	SO:0001583	missense	64324	Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	Familial Cancer Database	Weaver-Smith syndrome;Cerebral Gigantism;BWS, Exomphalos-Macroglossia-Gigantism (EMG) syndrome, Wiedemann-Beckwith syndrome, WBS	negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding	g.chr5:176720970T>C	AK026066	CCDS4412.1, CCDS4413.1	5q35	2014-09-17	2003-03-12		ENSG00000165671	ENSG00000165671		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	14234	protein-coding gene	gene with protein product		606681	"Sotos syndrome"	STO		9628876, 11896389	Standard	NM_022455		Approved	ARA267, FLJ22263, KMT3B	uc003mfr.4	Q96L73	OTTHUMG00000130846	ENST00000439151.2:c.6601T>C	5.37:g.176720970T>C	ENSP00000395929:p.Ser2201Pro	HNSCC(47;0.14)				NSD1_ENST00000361032.4_Missense_Mutation_p.S2098P|NSD1_ENST00000354179.4_Missense_Mutation_p.S1932P|NSD1_ENST00000347982.4_Missense_Mutation_p.S1932P	p.S2201P	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)	23	6646	+	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	2201					Q96PD8|Q96RN7	Missense_Mutation	SNP	ENST00000439151.2	37	c.6601T>C	CCDS4412.1	.	.	.	.	.	.	.	.	.	.	T	19.16	3.774712	0.70107	.	.	ENSG00000165671	ENST00000354179;ENST00000439151;ENST00000347982;ENST00000361032	T;T;T;T	0.81247	-1.47;-1.47;-1.47;-1.47	6.17	6.17	0.99709	.	0.190360	0.38381	N	0.001704	D	0.86912	0.6047	L	0.60455	1.87	0.47862	D	0.999539	D;D	0.71674	0.998;0.988	D;D	0.77004	0.989;0.943	D	0.86296	0.1677	10	0.42905	T	0.14	.	12.9919	0.58625	0.1208:0.0:0.0:0.8792	.	1932;2201	Q96L73-2;Q96L73	.;NSD1_HUMAN	P	1932;2201;1932;2098	ENSP00000346111:S1932P;ENSP00000395929:S2201P;ENSP00000343209:S1932P;ENSP00000354310:S2098P	ENSP00000343209:S1932P	S	+	1	0	NSD1	176653576	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	4.057000	0.57455	2.371000	0.80710	0.533000	0.62120	TCT		0.572	NSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253412.2	NM_172349		7	43	0	0	0	1	0	7	43					C	176720970	T	C	176720970	3	2	435	1	0	0	0	0	1	0	0	0	10669	1667	58	4	6687	4	NSD1	5	176720970	Missense_Mutation	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	1884	176720970	4194290	2984	23909											
RAB24	53917	broad.mit.edu	37	chr5	176729462	176729462	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ctccggtcttcttccagcagGtcactcttggtgccacataa	7	12	8	14	1	4	0	1	0	3	0	6	0	6	0	3	3	2	1	3	3	1	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:176729462G>A	ENST00000303251.6	-	5	788	c.369C>T	c.(367-369)gaC>gaT	p.D123D	RAB24_ENST00000393611.2_Silent_p.D123D|PRELID1_ENST00000303204.4_5'Flank|PRELID1_ENST00000503216.1_5'Flank|RAB24_ENST00000303270.6_Silent_p.D94D	NM_001031677.2	NP_001026847.1	Q969Q5	RAB24_HUMAN	RAB24, member RAS oncogene family	123					autophagy (GO:0006914)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	autophagic vacuole (GO:0005776)|membrane (GO:0016020)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)					all_cancers(89;2.49e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CTTCCAGCAGGTCACTCTTGG	0.577																																						ENST00000303270.6																			0											c.(280-282)gaC>gaT		RAB24, member RAS oncogene family							113	118	116					5																	176729462		2203	4300	6503	SO:0001819	synonymous_variant	53917				autophagy|protein transport|small GTPase mediated signal transduction	cytosol|membrane	GTP binding|protein binding	g.chr5:176729462G>A	AF087904	CCDS34300.1	5q35.3	2009-10-06			ENSG00000169228	ENSG00000169228		"RAB, member RAS oncogene"	9765	protein-coding gene	gene with protein product		612415					Standard	NM_001031677		Approved		uc003mfw.3	Q969Q5	OTTHUMG00000130849	ENST00000303251.6:c.369C>T	5.37:g.176729462G>A						RAB24_ENST00000303251.6_Silent_p.D123D|RAB24_ENST00000393611.2_Silent_p.D123D	p.D94D			Q969Q5	RAB24_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		4	884	-	all_cancers(89;2.49e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	123					Q7Z4Z7	Silent	SNP	ENST00000303251.6	37	c.282C>T	CCDS34300.1																																																																																				0.577	RAB24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253416.1	NM_130781		27	59	0	0	0	1	0	27	59					A	176729462	G	A	176729462	2	1	435	1	0	0	0	0	0	0	0	1	12911	1252	44	3		3	RAB24	5	176729462	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	8492	176729462	4185798	2985	23910											
MXD3	83463	broad.mit.edu	37	chr5	176734595	176734595	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ctgggtgaggaacatcatagCcaggcgccgccgccgtgcga	8	5	15	13	5	1	1	1	1	0	0	1	3	1	2	4	3	3	0	4	3	2	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:176734595C>T	ENST00000439742.2	-	6	1093	c.615G>A	c.(613-615)tgG>tgA	p.W205*	MXD3_ENST00000513063.1_Nonsense_Mutation_p.W205*|MXD3_ENST00000427908.2_Intron|MXD3_ENST00000423571.2_Missense_Mutation_p.G231D	NM_031300.3	NP_112590.1	Q9BW11	MAD3_HUMAN	MAX dimerization protein 3	205					negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)					all_cancers(89;2.49e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AACATCATAGCCAGGCGCCGC	0.687																																						ENST00000439742.2																			0											c.(613-615)tgG>tgA		MAX dimerization protein 3							16	18	18					5																	176734595		2196	4299	6495	SO:0001587	stop_gained	83463				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr5:176734595C>T	BC000745	CCDS4416.1, CCDS47347.1	5q35.3	2013-03-20			ENSG00000213347	ENSG00000213347		"MAX dimerization proteins", "Basic helix-loop-helix proteins"	14008	protein-coding gene	gene with protein product		609450					Standard	NM_031300		Approved	MAD3, bHLHc13	uc003mgb.2	Q9BW11	OTTHUMG00000130854	ENST00000439742.2:c.615G>A	5.37:g.176734595C>T	ENSP00000401867:p.Trp205*					MXD3_ENST00000423571.2_Missense_Mutation_p.G231D|MXD3_ENST00000427908.2_Intron|MXD3_ENST00000513063.1_Nonsense_Mutation_p.W205*	p.W205*	NM_031300.3	NP_112590.1	Q9BW11	MAD3_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		6	1093	-	all_cancers(89;2.49e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	205					B4E0J1|Q53HK1|Q7Z4Y0|Q8NDJ7|Q96ME3	Nonsense_Mutation	SNP	ENST00000439742.2	37	c.615G>A	CCDS4416.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.05|15.05	2.717450|2.717450	0.48622|0.48622	.|.	.|.	ENSG00000213347|ENSG00000213347	ENST00000423571|ENST00000439742;ENST00000303165;ENST00000513063	T|.	0.34275|.	1.37|.	4.69|4.69	4.69|4.69	0.59074|0.59074	.|.	.|0.724902	.|0.14458	.|N	.|0.318397	T|.	0.17365|.	0.0417|.	.|.	.|.	.|.	0.26525|0.26525	N|N	0.974354|0.974354	D|.	0.89917|.	1.0|.	D|.	0.81914|.	0.995|.	T|.	0.06972|.	-1.0797|.	8|.	0.49607|0.02654	T|T	0.09|1	.|.	13.0563|13.0563	0.58982|0.58982	0.0:0.9188:0.0:0.0812|0.0:0.9188:0.0:0.0812	.|.	231|.	B4E0J1|.	.|.	D|X	231|205;196;205	ENSP00000389716:G231D|.	ENSP00000389716:G231D|ENSP00000307720:W196X	G|W	-|-	2|3	0|0	MXD3|MXD3	176667201|176667201	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.085000|0.085000	0.17905|0.17905	6.566000|6.566000	0.73978|0.73978	2.135000|2.135000	0.66039|0.66039	0.491000|0.491000	0.48974|0.48974	GGC|TGG		0.687	MXD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253427.1			6	15	0	0	0	1	0	6	15					T	176734595	C	T	176734595	4	4	435	1	0	0	0	0	0	1	0	0	10000	740	26	3	90	3	MXD3	5	176734595	Nonsense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	5133	176734595	4180665	2986	23911											
SLC34A1	6569	broad.mit.edu	37	chr5	176825064	176825064	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tgtcctgcagagtcggagtcCcgggcacctgcccaagtggt	6	8	14	13	2	0	1	0	0	0	1	3	2	2	2	4	3	2	2	4	3	1	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:176825064C>T	ENST00000324417.5	+	13	1788	c.1697C>T	c.(1696-1698)cCc>cTc	p.P566L	SLC34A1_ENST00000513614.1_3'UTR	NM_003052.4	NP_003043.3	Q06495	NPT2A_HUMAN	solute carrier family 34 (type II sodium/phosphate contransporter), member 1	566					arsenate ion transmembrane transport (GO:1901684)|bone remodeling (GO:0046849)|cellular response to metal ion (GO:0071248)|cellular response to parathyroid hormone stimulus (GO:0071374)|cellular response to staurosporine (GO:0072734)|dentinogenesis (GO:0097187)|gentamycin metabolic process (GO:1901128)|glycoprotein metabolic process (GO:0009100)|indole metabolic process (GO:0042431)|ion transport (GO:0006811)|kidney development (GO:0001822)|ossification (GO:0001503)|phosphate ion homeostasis (GO:0055062)|phosphate ion transport (GO:0006817)|positive regulation of membrane potential (GO:0045838)|positive regulation of phosphate transmembrane transport (GO:2000187)|positive regulation of sodium-dependent phosphate transport (GO:2000120)|protein homooligomerization (GO:0051260)|response to cadmium ion (GO:0046686)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to growth hormone (GO:0060416)|response to lead ion (GO:0010288)|response to magnesium ion (GO:0032026)|response to mercury ion (GO:0046689)|response to potassium ion (GO:0035864)|response to thyroid hormone (GO:0097066)|response to vitamin A (GO:0033189)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|tricarboxylic acid metabolic process (GO:0072350)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|cell surface (GO:0009986)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|membrane-bounded vesicle (GO:0031988)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	sodium-dependent phosphate transmembrane transporter activity (GO:0015321)|symporter activity (GO:0015293)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AGTCGGAGTCCCGGGCACCTG	0.637																																						ENST00000324417.5																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24						c.(1696-1698)cCc>cTc		solute carrier family 34 (type II sodium/phosphate contransporter), member 1							93	98	97					5																	176825064		2203	4300	6503	SO:0001583	missense	6569				phosphate ion homeostasis|response to cadmium ion|response to lead ion|response to mercury ion|sodium ion transport	brush border membrane|integral to plasma membrane	protein binding|sodium-dependent phosphate transmembrane transporter activity|symporter activity	g.chr5:176825064C>T	L13258	CCDS4418.1, CCDS54953.1	5q35.3	2013-07-17	2013-07-17		ENSG00000131183	ENSG00000131183		"Solute carriers"	11019	protein-coding gene	gene with protein product	"sodium/phosphate co-transporter", "solute carrier family 17 (sodium phosphate), member 2", "Na+-phosphate cotransporter type II"	182309	"solute carrier family 34 (sodium phosphate), member 1"	NPT2, SLC17A2		8327470, 8693007	Standard	NM_003052		Approved	NAPI-3, NPTIIa, SLC11	uc003mgk.4	Q06495	OTTHUMG00000130857	ENST00000324417.5:c.1697C>T	5.37:g.176825064C>T	ENSP00000321424:p.Pro566Leu					SLC34A1_ENST00000513614.1_3'UTR	p.P566L	NM_003052.4	NP_003043.3	Q06495	NPT2A_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		13	1788	+	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	566					B4DPE3	Missense_Mutation	SNP	ENST00000324417.5	37	c.1697C>T	CCDS4418.1	.	.	.	.	.	.	.	.	.	.	C	17.98	3.520908	0.64747	.	.	ENSG00000131183	ENST00000324417	T	0.37235	1.21	5.34	5.34	0.76211	.	0.000000	0.85682	D	0.000000	T	0.62624	0.2443	M	0.83774	2.66	0.80722	D	1	D	0.62365	0.991	P	0.61201	0.885	T	0.67492	-0.5657	10	0.59425	D	0.04	-16.4892	19.057	0.93069	0.0:1.0:0.0:0.0	.	566	Q06495	NPT2A_HUMAN	L	566	ENSP00000321424:P566L	ENSP00000321424:P566L	P	+	2	0	SLC34A1	176757670	1.000000	0.71417	0.614000	0.29051	0.002000	0.02628	7.726000	0.84824	2.491000	0.84063	0.455000	0.32223	CCC		0.637	SLC34A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253431.1	NM_003052		14	57	0	0	0	1	0	14	57					T	176825064	C	T	176825064	3	4	435	1	0	0	0	0	1	0	0	0	14567	623	22	3	1834	3	SLC34A1	5	176825064	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	90469	176825064	4090196	2987	23912											
GRK6	2870	broad.mit.edu	37	chr5	176857946	176857946	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttccctcacatcagccagtgCgaagagctgcggctcagcct	8	8	10	15	2	3	1	3	0	0	1	4	2	4	1	3	1	5	2	3	1	1	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:176857946C>T	ENST00000355472.5	+	2	294	c.126C>T	c.(124-126)tgC>tgT	p.C42C	GRK6_ENST00000355958.5_Silent_p.C42C|GRK6_ENST00000528793.1_Silent_p.C42C|GRK6_ENST00000393576.3_Silent_p.C42C|GRK6_ENST00000507633.1_Silent_p.C42C	NM_001004106.2|NM_002082.3	NP_001004106.1|NP_002073.2	P43250	GRK6_HUMAN	G protein-coupled receptor kinase 6	42	N-terminal.				regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|Wnt signaling pathway (GO:0016055)	membrane (GO:0016020)	ATP binding (GO:0005524)|G-protein coupled receptor kinase activity (GO:0004703)			breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(5)|stomach(1)	25	all_cancers(89;1.15e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TCAGCCAGTGCGAAGAGCTGC	0.642																																						ENST00000355472.5																			0				breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(5)|stomach(1)	25						c.(124-126)tgC>tgT		G protein-coupled receptor kinase 6							50	44	46					5																	176857946		2203	4300	6503	SO:0001819	synonymous_variant	2870				regulation of G-protein coupled receptor protein signaling pathway	membrane	ATP binding|G-protein coupled receptor kinase activity|signal transducer activity	g.chr5:176857946C>T		CCDS34303.1, CCDS43406.1, CCDS47348.1	5q35	2011-01-14	2004-02-04	2004-02-06	ENSG00000198055	ENSG00000198055			4545	protein-coding gene	gene with protein product		600869		GPRK6		8415712	Standard	NM_002082		Approved		uc021yiu.1	P43250	OTTHUMG00000163401	ENST00000355472.5:c.126C>T	5.37:g.176857946C>T						GRK6_ENST00000355958.5_Silent_p.C42C|GRK6_ENST00000528793.1_Silent_p.C42C|GRK6_ENST00000393576.3_Silent_p.C42C|GRK6_ENST00000507633.1_Silent_p.C42C	p.C42C	NM_001004106.2|NM_002082.3	NP_001004106.1|NP_002073.2	P43250	GRK6_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		2	294	+	all_cancers(89;1.15e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	42			N-terminal.		O60541|Q13652	Silent	SNP	ENST00000355472.5	37	c.126C>T	CCDS34303.1																																																																																				0.642	GRK6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000373204.1	NM_002082		4	10	0	0	0	1	0	4	10					T	176857946	C	T	176857946	2	4	435	1	0	0	0	0	0	0	0	1	6793	776	27	1		1	GRK6	5	176857946	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	32882	176857946	4057314	2988	23913											
GRK6	2870	broad.mit.edu	37	chr5	176860173	176860173	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cccacgagtacctgagcgtgGccccttttgccgactacctc	6	9	9	17	3	0	1	0	1	0	0	1	3	0	1	6	1	4	1	6	1	2	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:176860173G>A	ENST00000355472.5	+	6	634	c.466G>A	c.(466-468)Gcc>Acc	p.A156T	GRK6_ENST00000355958.5_Missense_Mutation_p.A156T|GRK6_ENST00000528793.1_Missense_Mutation_p.A156T|GRK6_ENST00000393576.3_Missense_Mutation_p.A156T|GRK6_ENST00000507633.1_Missense_Mutation_p.A156T	NM_001004106.2|NM_002082.3	NP_001004106.1|NP_002073.2	P43250	GRK6_HUMAN	G protein-coupled receptor kinase 6	156	N-terminal.|RGS. {ECO:0000255|PROSITE- ProRule:PRU00171}.				regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|Wnt signaling pathway (GO:0016055)	membrane (GO:0016020)	ATP binding (GO:0005524)|G-protein coupled receptor kinase activity (GO:0004703)			breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(5)|stomach(1)	25	all_cancers(89;1.15e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CCTGAGCGTGGCCCCTTTTGC	0.632																																						ENST00000355472.5																			0				breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(5)|stomach(1)	25						c.(466-468)Gcc>Acc		G protein-coupled receptor kinase 6							104	94	98					5																	176860173		2203	4300	6503	SO:0001583	missense	2870				regulation of G-protein coupled receptor protein signaling pathway	membrane	ATP binding|G-protein coupled receptor kinase activity|signal transducer activity	g.chr5:176860173G>A		CCDS34303.1, CCDS43406.1, CCDS47348.1	5q35	2011-01-14	2004-02-04	2004-02-06	ENSG00000198055	ENSG00000198055			4545	protein-coding gene	gene with protein product		600869		GPRK6		8415712	Standard	NM_002082		Approved		uc021yiu.1	P43250	OTTHUMG00000163401	ENST00000355472.5:c.466G>A	5.37:g.176860173G>A	ENSP00000347655:p.Ala156Thr					GRK6_ENST00000355958.5_Missense_Mutation_p.A156T|GRK6_ENST00000528793.1_Missense_Mutation_p.A156T|GRK6_ENST00000393576.3_Missense_Mutation_p.A156T|GRK6_ENST00000507633.1_Missense_Mutation_p.A156T	p.A156T	NM_001004106.2|NM_002082.3	NP_001004106.1|NP_002073.2	P43250	GRK6_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		6	634	+	all_cancers(89;1.15e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	156			N-terminal.|RGS.		O60541|Q13652	Missense_Mutation	SNP	ENST00000355472.5	37	c.466G>A	CCDS34303.1	.	.	.	.	.	.	.	.	.	.	G	17.92	3.507152	0.64410	.	.	ENSG00000198055	ENST00000506296;ENST00000511244;ENST00000355472;ENST00000507633;ENST00000393576;ENST00000355958;ENST00000528793	T;T;T;T;T;T;T	0.01902	4.57;4.57;4.57;4.57;4.57;4.57;4.57	5.4	5.4	0.78164	Regulator of G protein signalling (3);Regulator of G protein signalling superfamily (1);	0.000000	0.85682	D	0.000000	T	0.07999	0.0200	L	0.51422	1.61	0.80722	D	1	P;B;B;D	0.62365	0.481;0.02;0.019;0.991	B;B;B;P	0.60286	0.21;0.008;0.005;0.872	T	0.51156	-0.8741	10	0.20046	T	0.44	-18.7046	19.1934	0.93677	0.0:0.0:1.0:0.0	.	156;126;156;156	P43250;B3KPS5;P43250-2;D6RHX8	GRK6_HUMAN;.;.;.	T	124;124;156;156;156;156;156	ENSP00000421055:A124T;ENSP00000425391:A124T;ENSP00000347655:A156T;ENSP00000427581:A156T;ENSP00000377204:A156T;ENSP00000348230:A156T;ENSP00000433511:A156T	ENSP00000347655:A156T	A	+	1	0	GRK6	176792779	1.000000	0.71417	0.998000	0.56505	0.993000	0.82548	9.414000	0.97362	2.536000	0.85505	0.561000	0.74099	GCC		0.632	GRK6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000373204.1	NM_002082		24	32	0	0	0	1	0	24	32					A	176860173	G	A	176860173	3	1	435	1	0	0	0	0	1	0	0	0	6793	1203	42	3	488	3	GRK6	5	176860173	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	2227	176860173	4055087	2989	23914											
GRK6	2870	broad.mit.edu	37	chr5	176860983	176860983	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgacactgatgaacgggggCgacctcaagttccacatcta	11	8	10	12	2	2	3	1	3	1	0	3	4	3	3	2	2	1	1	2	2	3	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:176860983C>T	ENST00000355472.5	+	9	975	c.807C>T	c.(805-807)ggC>ggT	p.G269G	GRK6_ENST00000355958.5_Silent_p.G269G|GRK6_ENST00000528793.1_Silent_p.G269G|GRK6_ENST00000393576.3_Intron|GRK6_ENST00000507633.1_Silent_p.G269G	NM_001004106.2|NM_002082.3	NP_001004106.1|NP_002073.2	P43250	GRK6_HUMAN	G protein-coupled receptor kinase 6	269	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|Wnt signaling pathway (GO:0016055)	membrane (GO:0016020)	ATP binding (GO:0005524)|G-protein coupled receptor kinase activity (GO:0004703)			breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(5)|stomach(1)	25	all_cancers(89;1.15e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TGAACGGGGGCGACCTCAAGT	0.657																																						ENST00000355472.5																			0				breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(5)|stomach(1)	25						c.(805-807)ggC>ggT		G protein-coupled receptor kinase 6							78	55	63					5																	176860983		2203	4300	6503	SO:0001819	synonymous_variant	2870				regulation of G-protein coupled receptor protein signaling pathway	membrane	ATP binding|G-protein coupled receptor kinase activity|signal transducer activity	g.chr5:176860983C>T		CCDS34303.1, CCDS43406.1, CCDS47348.1	5q35	2011-01-14	2004-02-04	2004-02-06	ENSG00000198055	ENSG00000198055			4545	protein-coding gene	gene with protein product		600869		GPRK6		8415712	Standard	NM_002082		Approved		uc021yiu.1	P43250	OTTHUMG00000163401	ENST00000355472.5:c.807C>T	5.37:g.176860983C>T						GRK6_ENST00000355958.5_Silent_p.G269G|GRK6_ENST00000528793.1_Silent_p.G269G|GRK6_ENST00000393576.3_Intron|GRK6_ENST00000507633.1_Silent_p.G269G	p.G269G	NM_001004106.2|NM_002082.3	NP_001004106.1|NP_002073.2	P43250	GRK6_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		9	975	+	all_cancers(89;1.15e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	269			Protein kinase.		O60541|Q13652	Silent	SNP	ENST00000355472.5	37	c.807C>T	CCDS34303.1																																																																																				0.657	GRK6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000373204.1	NM_002082		9	15	0	0	0	1	0	9	15					T	176860983	C	T	176860983	2	4	435	1	0	0	0	0	0	0	0	1	6793	755	27	1		1	GRK6	5	176860983	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	810	176860983	4054277	2990	23915											
PDLIM7	9260	broad.mit.edu	37	chr5	176911074	176911074	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cactggccagtgggtacctcGctcgcaatagggcacgccct	7	7	12	15	3	0	0	0	0	0	0	2	0	0	0	3	3	1	4	3	3	3	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:176911074G>A	ENST00000355841.2	-	11	1234	c.1168C>T	c.(1168-1170)Cga>Tga	p.R390*	PDLIM7_ENST00000356618.4_3'UTR|PDLIM7_ENST00000359895.2_Nonsense_Mutation_p.R356*|PDLIM7_ENST00000505746.1_5'UTR	NM_005451.3	NP_005442.2	Q9NR12	PDLI7_HUMAN	PDZ and LIM domain 7 (enigma)	390	LIM zinc-binding 2. {ECO:0000255|PROSITE- ProRule:PRU00125}.				actin cytoskeleton organization (GO:0030036)|cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)|positive regulation of osteoblast differentiation (GO:0045669)|receptor-mediated endocytosis (GO:0006898)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|ruffle (GO:0001726)|stress fiber (GO:0001725)	zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(1)	10	all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TGGGTACCTCGCTCGCAATAG	0.587																																						ENST00000355841.2																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(1)	10						c.(1168-1170)Cga>Tga		PDZ and LIM domain 7 (enigma)							98	84	89					5																	176911074		2203	4300	6503	SO:0001587	stop_gained	9260				cell differentiation|multicellular organismal development|ossification|receptor-mediated endocytosis	cytoplasm|focal adhesion	protein binding|zinc ion binding	g.chr5:176911074G>A	BC001093	CCDS4422.1, CCDS4423.1, CCDS4424.1	5q35.3	2008-02-05			ENSG00000196923	ENSG00000196923			22958	protein-coding gene	gene with protein product		605903				11874232	Standard	NM_005451		Approved	ENIGMA	uc003mhc.1	Q9NR12	OTTHUMG00000130853	ENST00000355841.2:c.1168C>T	5.37:g.176911074G>A	ENSP00000348099:p.Arg390*					PDLIM7_ENST00000356618.4_3'UTR|PDLIM7_ENST00000505746.1_5'UTR|PDLIM7_ENST00000359895.2_Nonsense_Mutation_p.R356*	p.R390*	NM_005451.3	NP_005442.2	Q9NR12	PDLI7_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		11	1234	-	all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	390			LIM zinc-binding 2.		Q14250|Q5XG82|Q6NVZ5|Q96C91|Q9BXB8|Q9BXB9	Nonsense_Mutation	SNP	ENST00000355841.2	37	c.1168C>T	CCDS4422.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.978593	0.74360	.	.	ENSG00000196923	ENST00000359895;ENST00000355841	.	.	.	5.48	2.36	0.29203	.	0.371965	0.17956	N	0.156355	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.15066	T	0.55	.	12.7132	0.57102	0.0:0.0:0.5012:0.4988	.	.	.	.	X	356;390	.	ENSP00000348099:R390X	R	-	1	2	PDLIM7	176843680	1.000000	0.71417	1.000000	0.80357	0.263000	0.26337	2.418000	0.44662	1.294000	0.44707	0.485000	0.47835	CGA		0.587	PDLIM7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253423.1	NM_005451		11	20	0	0	0	1	0	11	20					A	176911074	G	A	176911074	4	1	435	1	0	0	0	0	0	1	0	0	11684	1095	38	1	217	1	PDLIM7	5	176911074	Nonsense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	50091	176911074	4004186	2991	23916											
DOK3	79930	broad.mit.edu	37	chr5	176931272	176931272	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggctggcctccagcacacaCaggttctcatagaggtgctc	8	8	12	13	0	1	1	1	0	1	1	4	1	2	1	2	4	2	4	2	4	1	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:176931272C>G	ENST00000357198.4	-	6	1207	c.1203G>C	c.(1201-1203)ctG>ctC	p.L401L	DOK3_ENST00000501403.2_Silent_p.L345L|RP11-1334A24.6_ENST00000506025.1_RNA|DOK3_ENST00000312943.6_Intron|DOK3_ENST00000377112.4_Intron	NM_024872.2	NP_079148.2	Q7L591	DOK3_HUMAN	docking protein 3	401	Pro-rich.				Ras protein signal transduction (GO:0007265)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|lung(7)	13	all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.191)			CCAGCACACACAGGTTCTCAT	0.667																																						ENST00000501403.2																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|lung(7)	13						c.(1033-1035)ctG>ctC		docking protein 3							18	20	20					5																	176931272		2200	4299	6499	SO:0001819	synonymous_variant	79930					cytoplasm|plasma membrane	insulin receptor binding	g.chr5:176931272C>G	AK026223	CCDS4426.1, CCDS47349.1, CCDS47350.1	5q35	2008-02-05			ENSG00000146094	ENSG00000146094			24583	protein-coding gene	gene with protein product		611435				10733577, 12595900	Standard	NM_024872		Approved	FLJ22570	uc003mhk.3	Q7L591	OTTHUMG00000130850	ENST00000357198.4:c.1203G>C	5.37:g.176931272C>G						DOK3_ENST00000312943.6_Intron|DOK3_ENST00000357198.4_Silent_p.L401L|DOK3_ENST00000377112.4_Intron	p.L345L			Q7L591	DOK3_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.191)		6	1384	-	all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	401			Pro-rich.		E9PAT0|H7BXS0|Q8N864|Q9BQB3|Q9H666	Silent	SNP	ENST00000357198.4	37	c.1035G>C	CCDS4426.1																																																																																				0.667	DOK3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000253420.4	NM_024872		3	1	0	0	0	1	0	3	1					G	176931272	C	G	176931272	2	3	435	1	0	0	0	0	0	0	0	1	4698	465	17	5		5	DOK3	5	176931272	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	20198	176931272	3983988	2992	23917											
DDX41	51428	broad.mit.edu	37	chr5	176939519	176939519	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagttctcaatctcctctggCatgtcataattgatgacgtg	9	15	8	9	1	4	2	2	2	3	0	6	2	4	2	1	1	0	2	1	1	3	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:176939519C>T	ENST00000507955.1	-	14	2050	c.1527G>A	c.(1525-1527)atG>atA	p.M509I	DOK3_ENST00000501403.2_5'Flank|DOK3_ENST00000357198.4_5'Flank|DOK3_ENST00000312943.6_5'Flank|DDX41_ENST00000506965.1_5'Flank|DOK3_ENST00000377112.4_5'Flank	NM_016222.2	NP_057306.2	Q9UJV9	DDX41_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 41	509	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				apoptotic process (GO:0006915)|cellular response to interferon-beta (GO:0035458)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|mRNA splicing, via spliceosome (GO:0000398)|multicellular organismal development (GO:0007275)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of type I interferon production (GO:0032479)|RNA processing (GO:0006396)	catalytic step 2 spliceosome (GO:0071013)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)					all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.191)			TCTCCTCTGGCATGTCATAAT	0.582																																						ENST00000507955.1																			0											c.(1525-1527)atG>atA		DEAD (Asp-Glu-Ala-Asp) box polypeptide 41							89	79	82					5																	176939519		2203	4300	6503	SO:0001583	missense	51428				apoptosis|multicellular organismal development	catalytic step 2 spliceosome	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding|zinc ion binding	g.chr5:176939519C>T	AF195417	CCDS4427.1	5q35.3	2008-02-05			ENSG00000183258	ENSG00000183258		"DEAD-boxes"	18674	protein-coding gene	gene with protein product		608170				10607561	Standard	NM_016222		Approved	ABS, MGC8828	uc003mho.3	Q9UJV9	OTTHUMG00000130858	ENST00000507955.1:c.1527G>A	5.37:g.176939519C>T	ENSP00000422753:p.Met509Ile						p.M509I	NM_016222.2	NP_057306.2	Q9UJV9	DDX41_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.191)		14	2050	-	all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	509			Helicase C-terminal.		B2RDC8|Q96BK6|Q96K05|Q9NT96|Q9NW04	Missense_Mutation	SNP	ENST00000507955.1	37	c.1527G>A	CCDS4427.1	.	.	.	.	.	.	.	.	.	.	C	31	5.101926	0.94245	.	.	ENSG00000183258	ENST00000330503;ENST00000507955	T;T	0.76060	-0.99;-0.99	5.99	5.99	0.97316	Helicase, C-terminal (3);	0.038864	0.85682	D	0.000000	T	0.74989	0.3789	N	0.04669	-0.19	0.80722	D	1	D	0.76494	0.999	D	0.76071	0.987	T	0.81553	-0.0880	10	0.72032	D	0.01	-33.1533	20.4753	0.99175	0.0:1.0:0.0:0.0	.	509	Q9UJV9	DDX41_HUMAN	I	527;509	ENSP00000330349:M527I;ENSP00000422753:M509I	ENSP00000330349:M527I	M	-	3	0	DDX41	176872125	1.000000	0.71417	1.000000	0.80357	0.843000	0.47879	7.736000	0.84948	2.844000	0.97970	0.650000	0.86243	ATG		0.582	DDX41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253432.2	NM_016222		13	26	0	0	0	1	0	13	26					T	176939519	C	T	176939519	3	4	435	1	0	0	0	0	1	0	0	0	4361	710	25	3	357	3	DDX41	5	176939519	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	8247	176939519	3975741	2993	23918											
DDX41	51428	broad.mit.edu	37	chr5	176943194	176943194	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccttggcagactctttgcgcGctgagaaaagaagtggaaga	12	8	13	8	2	1	4	0	1	1	4	1	6	1	5	1	2	1	2	1	2	4	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:176943194G>A	ENST00000507955.1	-	4	822	c.299C>T	c.(298-300)gCg>gTg	p.A100V	DDX41_ENST00000506965.1_5'UTR	NM_016222.2	NP_057306.2	Q9UJV9	DDX41_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 41	100					apoptotic process (GO:0006915)|cellular response to interferon-beta (GO:0035458)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|mRNA splicing, via spliceosome (GO:0000398)|multicellular organismal development (GO:0007275)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of type I interferon production (GO:0032479)|RNA processing (GO:0006396)	catalytic step 2 spliceosome (GO:0071013)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)					all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.191)			CTCTTTGCGCGCTGAGAAAAG	0.537																																						ENST00000507955.1																			0											c.e4-1		DEAD (Asp-Glu-Ala-Asp) box polypeptide 41							174	177	176					5																	176943194		2203	4300	6503	SO:0001630	splice_region_variant	51428				apoptosis|multicellular organismal development	catalytic step 2 spliceosome	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding|zinc ion binding	g.chr5:176943194G>A	AF195417	CCDS4427.1	5q35.3	2008-02-05			ENSG00000183258	ENSG00000183258		"DEAD-boxes"	18674	protein-coding gene	gene with protein product		608170				10607561	Standard	NM_016222		Approved	ABS, MGC8828	uc003mho.3	Q9UJV9	OTTHUMG00000130858	ENST00000507955.1:c.299-1C>T	5.37:g.176943194G>A						DDX41_ENST00000506965.1_5'UTR	p.A100_splice	NM_016222.2	NP_057306.2	Q9UJV9	DDX41_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.191)		4	822	-	all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	100					B2RDC8|Q96BK6|Q96K05|Q9NT96|Q9NW04	Splice_Site	SNP	ENST00000507955.1	37	c.298_splice	CCDS4427.1	.	.	.	.	.	.	.	.	.	.	G	17.89	3.499275	0.64298	.	.	ENSG00000183258	ENST00000330503;ENST00000507955	T;T	0.28069	1.63;1.63	5.47	4.6	0.57074	.	0.189153	0.45606	D	0.000344	T	0.25717	0.0626	L	0.41573	1.285	0.80722	D	1	B	0.22746	0.074	B	0.12837	0.008	T	0.03139	-1.1068	10	0.28530	T	0.3	.	13.9701	0.64235	0.0726:0.0:0.9274:0.0	.	100	Q9UJV9	DDX41_HUMAN	V	118;100	ENSP00000330349:A118V;ENSP00000422753:A100V	ENSP00000330349:A118V	A	-	2	0	DDX41	176875800	1.000000	0.71417	0.995000	0.50966	0.914000	0.54420	7.434000	0.80377	1.306000	0.44926	0.561000	0.74099	GCG		0.537	DDX41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253432.2	NM_016222	Missense_Mutation	65	88	0	0	0	1	0	65	88					A	176943194	G	A	176943194	5	1	435	1	0	0	0	0	0	0	1	0	4361	1101	38	1	1625	1	DDX41	5	176943194	Splice_Site	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	3675	176943194	3972066	2994	23919											
N4BP3	23138	broad.mit.edu	37	chr5	177546594	177546594	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttgaaacttcatggccacaGccccaggccctgctggcatt	8	9	10	14	0	1	1	1	1	0	0	1	1	1	1	4	3	3	3	4	3	1	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:177546594G>T	ENST00000274605.5	+	2	369	c.10G>T	c.(10-12)Gcc>Tcc	p.A4S		NM_015111.1	NP_055926.1	O15049	N4BP3_HUMAN	NEDD4 binding protein 3	4						cytoplasmic vesicle (GO:0031410)|membrane (GO:0016020)				breast(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(1)|skin(1)	9	all_cancers(89;0.00294)|Renal(175;0.000269)|Lung NSC(126;0.00858)|all_lung(126;0.0139)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CATGGCCACAGCCCCAGGCCC	0.642																																						ENST00000274605.5																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(1)|skin(1)	9						c.(10-12)Gcc>Tcc		NEDD4 binding protein 3							32	36	35					5																	177546594		2203	4300	6503	SO:0001583	missense	23138					cytoplasmic vesicle membrane		g.chr5:177546594G>T	AB002339	CCDS34307.1	5q35.3	2012-05-17				ENSG00000145911			29852	protein-coding gene	gene with protein product						9205841, 11717310	Standard	XM_006714834		Approved	LZTS4	uc003mik.1	O15049		ENST00000274605.5:c.10G>T	5.37:g.177546594G>T	ENSP00000274605:p.Ala4Ser						p.A4S	NM_015111.1	NP_055926.1	O15049	N4BP3_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		2	369	+	all_cancers(89;0.00294)|Renal(175;0.000269)|Lung NSC(126;0.00858)|all_lung(126;0.0139)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	4					B4DIL3|D3DWP3|Q6ZSQ6|Q7Z6I3	Missense_Mutation	SNP	ENST00000274605.5	37	c.10G>T	CCDS34307.1	.	.	.	.	.	.	.	.	.	.	G	15.53	2.859862	0.51482	.	.	ENSG00000145911	ENST00000274605	T	0.00514	6.88	5.48	3.68	0.42216	.	0.641375	0.15738	N	0.247068	T	0.00412	0.0013	L	0.36672	1.1	0.27605	N	0.94885	B	0.23377	0.084	B	0.25759	0.063	T	0.29701	-1.0003	10	0.06625	T	0.88	-8.2614	10.2764	0.43512	0.1644:0.0:0.8356:0.0	.	4	O15049	N4BP3_HUMAN	S	4	ENSP00000274605:A4S	ENSP00000274605:A4S	A	+	1	0	N4BP3	177479200	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	3.050000	0.49877	0.662000	0.31006	0.491000	0.48974	GCC		0.642	N4BP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373552.2	NM_015111		18	22	1	0	1.67942e-08	1	1.77343e-08	18	22					T	177546594	G	T	177546594	3	4	435	1	0	0	0	0	1	0	0	0	10113	971	34	5	12	5	N4BP3	5	177546594	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	603400	177546594	3368666	2995	23920											
RMND5B	64777	broad.mit.edu	37	chr5	177565184	177565184	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgcagaagttcctgacctacGggcagcactgtgagcggagc	9	7	14	11	2	0	3	0	2	0	1	1	4	1	4	2	2	5	4	2	2	2	2	rs562081613		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:177565184G>A	ENST00000515098.1	+	4	415	c.64G>A	c.(64-66)Ggg>Agg	p.G22R	RMND5B_ENST00000313386.4_Missense_Mutation_p.G22R|RMND5B_ENST00000542098.1_Intron			Q96G75	RMD5B_HUMAN	required for meiotic nuclear division 5 homolog B (S. cerevisiae)	22										endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2)	17	all_cancers(89;0.00294)|Renal(175;0.000269)|Lung NSC(126;0.00858)|all_lung(126;0.0139)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CCTGACCTACGGGCAGCACTG	0.667																																						ENST00000515098.1																			0				endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2)	17						c.(64-66)Ggg>Agg		required for meiotic nuclear division 5 homolog B (S. cerevisiae)							64	51	56					5																	177565184		2203	4300	6503	SO:0001583	missense	64777							g.chr5:177565184G>A	BC009911	CCDS4431.1, CCDS75382.1	5q35.3	2012-07-20			ENSG00000145916	ENSG00000145916			26181	protein-coding gene	gene with protein product	"GID complex subunit 2 homolog B"					12975309	Standard	NM_022762		Approved	FLJ22318, GID2, GID2B	uc003mim.3	Q96G75	OTTHUMG00000130897	ENST00000515098.1:c.64G>A	5.37:g.177565184G>A	ENSP00000420875:p.Gly22Arg					RMND5B_ENST00000313386.4_Missense_Mutation_p.G22R|RMND5B_ENST00000542098.1_Intron	p.G22R			Q96G75	RMD5B_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		4	415	+	all_cancers(89;0.00294)|Renal(175;0.000269)|Lung NSC(126;0.00858)|all_lung(126;0.0139)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	22					Q1HE27|Q6UVY7|Q9H6F6	Missense_Mutation	SNP	ENST00000515098.1	37	c.64G>A	CCDS4431.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.944429	0.73672	.	.	ENSG00000145916	ENST00000313386;ENST00000515098;ENST00000502814;ENST00000507457;ENST00000508647	.	.	.	5.44	5.44	0.79542	.	0.000000	0.85682	D	0.000000	T	0.30479	0.0766	N	0.08118	0	0.80722	D	1	B	0.32283	0.362	B	0.18871	0.023	T	0.15694	-1.0428	9	0.22109	T	0.4	-27.8584	16.7589	0.85507	0.0:0.0:1.0:0.0	.	22	Q96G75	RMD5B_HUMAN	R	22	.	ENSP00000320623:G22R	G	+	1	0	RMND5B	177497790	1.000000	0.71417	0.980000	0.43619	0.987000	0.75469	8.896000	0.92521	2.533000	0.85409	0.563000	0.77884	GGG		0.667	RMND5B-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373542.1	NM_022762		4	11	0	0	0	1	0	4	11					A	177565184	G	A	177565184	3	1	435	1	0	0	0	0	1	0	0	0	13398	1116	39	2	66	2	RMND5B	5	177565184	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	18590	177565184	3350076	2996	23921											
ZNF454	285676	broad.mit.edu	37	chr5	178391870	178391870	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcacaggaatgtgatgaatcCgggagcactatgagctcatc	12	9	11	9	1	2	3	2	3	0	0	4	5	3	5	1	2	2	2	1	2	3	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:178391870C>T	ENST00000320129.3	+	5	768	c.465C>T	c.(463-465)tcC>tcT	p.S155S	ZNF454_ENST00000519564.1_Silent_p.S155S	NM_001178090.1|NM_182594.2	NP_001171561.1|NP_872400.2	Q8N9F8	ZN454_HUMAN	zinc finger protein 454	155					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(11)|lung(18)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)	46	all_cancers(89;0.000904)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.225)|all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.234)		GTGATGAATCCGGGAGCACTA	0.493																																						ENST00000320129.3																			0				breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(11)|lung(18)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)	46						c.(463-465)tcC>tcT		zinc finger protein 454							83	80	81					5																	178391870		2203	4300	6503	SO:0001819	synonymous_variant	285676				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr5:178391870C>T	AK094763	CCDS4441.1	5q35.3	2013-01-08			ENSG00000178187	ENSG00000178187		"Zinc fingers, C2H2-type", "-"	21200	protein-coding gene	gene with protein product							Standard	NM_182594		Approved	FLJ37444	uc021yjc.1	Q8N9F8	OTTHUMG00000130891	ENST00000320129.3:c.465C>T	5.37:g.178391870C>T						ZNF454_ENST00000519564.1_Silent_p.S155S	p.S155S	NM_001178090.1|NM_182594.2	NP_001171561.1|NP_872400.2	Q8N9F8	ZN454_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.234)	5	768	+	all_cancers(89;0.000904)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.225)|all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	155					Q2M1P2|Q2M323	Silent	SNP	ENST00000320129.3	37	c.465C>T	CCDS4441.1																																																																																				0.493	ZNF454-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253476.2	XM_209718		21	31	0	0	0	1	0	21	31					T	178391870	C	T	178391870	2	4	435	1	0	0	0	0	0	0	0	1	17920	639	23	2		2	ZNF454	5	178391870	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	826686	178391870	2523390	2997	23922											
ZNF454	285676	broad.mit.edu	37	chr5	178392866	178392866	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	actcacctgactcaacatcaGaggattcacacaggagagaa	16	6	8	11	0	4	3	4	1	0	2	4	6	4	5	1	2	1	0	1	2	2	1	rs13187000	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:178392866G>A	ENST00000320129.3	+	5	1764	c.1461G>A	c.(1459-1461)caG>caA	p.Q487Q	ZNF454_ENST00000519564.1_Silent_p.Q487Q	NM_001178090.1|NM_182594.2	NP_001171561.1|NP_872400.2	Q8N9F8	ZN454_HUMAN	zinc finger protein 454	487					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(11)|lung(18)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)	46	all_cancers(89;0.000904)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.225)|all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.234)		CTCAACATCAGAGGATTCACA	0.393																																						ENST00000320129.3																			0				breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(11)|lung(18)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)	46						c.(1459-1461)caG>caA		zinc finger protein 454		G	,,	1,4405	2.1+/-5.4	0,1,2202	68	72	71		1461,1461,1461	2.7	1	5	dbSNP_121	71	5,8595	4.3+/-15.6	0,5,4295	no	coding-synonymous,coding-synonymous,coding-synonymous	ZNF454	NM_001178089.1,NM_001178090.1,NM_182594.2	,,	0,6,6497	AA,AG,GG		0.0581,0.0227,0.0461	,,	487/523,487/523,487/523	178392866	6,13000	2203	4300	6503	SO:0001819	synonymous_variant	285676				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr5:178392866G>A	AK094763	CCDS4441.1	5q35.3	2013-01-08			ENSG00000178187	ENSG00000178187		"Zinc fingers, C2H2-type", "-"	21200	protein-coding gene	gene with protein product							Standard	NM_182594		Approved	FLJ37444	uc021yjc.1	Q8N9F8	OTTHUMG00000130891	ENST00000320129.3:c.1461G>A	5.37:g.178392866G>A						ZNF454_ENST00000519564.1_Silent_p.Q487Q	p.Q487Q	NM_001178090.1|NM_182594.2	NP_001171561.1|NP_872400.2	Q8N9F8	ZN454_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.234)	5	1764	+	all_cancers(89;0.000904)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.225)|all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	487					Q2M1P2|Q2M323	Silent	SNP	ENST00000320129.3	37	c.1461G>A	CCDS4441.1																																																																																				0.393	ZNF454-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253476.2	XM_209718		31	38	0	0	0	1	0	31	38					A	178392866	G	A	178392866	2	1	435	1	0	0	0	0	0	0	0	1	17920	933	33	3		3	ZNF454	5	178392866	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	996	178392866	2522394	2998	23923											
GRM6	2916	broad.mit.edu	37	chr5	178410056	178410056	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgatggcgtacactgtgcacGtgaccatgagcaggaggctg	9	8	15	9	2	0	3	0	3	0	0	0	4	0	4	1	3	3	4	1	3	1	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:178410056G>A	ENST00000517717.1	-	10	2329	c.2291C>T	c.(2290-2292)aCg>aTg	p.T764M	GRM6_ENST00000231188.5_Missense_Mutation_p.T764M|RP11-281O15.4_ENST00000519491.1_RNA			O15303	GRM6_HUMAN	glutamate receptor, metabotropic 6	764					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|detection of light stimulus involved in visual perception (GO:0050908)|detection of visible light (GO:0009584)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|locomotory behavior (GO:0007626)|positive regulation of calcium ion import (GO:0090280)|regulation of synaptic transmission, glutamatergic (GO:0051966)|retina development in camera-type eye (GO:0060041)|synaptic transmission (GO:0007268)	cell projection (GO:0042995)|endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|new growing cell tip (GO:0035841)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)|protein homodimerization activity (GO:0042803)			NS(2)|breast(4)|endometrium(9)|large_intestine(12)|lung(21)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	55	all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.245)		CACTGTGCACGTGACCATGAG	0.627																																						ENST00000231188.5																			0				NS(2)|breast(4)|endometrium(9)|large_intestine(12)|lung(21)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	55						c.(2290-2292)aCg>aTg		glutamate receptor, metabotropic 6							128	105	113					5																	178410056		2203	4300	6503	SO:0001583	missense	2916				detection of visible light|visual perception	integral to plasma membrane		g.chr5:178410056G>A	U82083	CCDS4442.1	5q35	2014-01-28						"GPCR / Class C : Glutamate receptors, metabotropic", "Glutamate receptors"	4598	protein-coding gene	gene with protein product		604096				9215706	Standard	NM_000843		Approved	GPRC1F, mGlu6, MGLUR6, CSNB1B	uc003mjr.3	O15303	OTTHUMG00000130889	ENST00000517717.1:c.2291C>T	5.37:g.178410056G>A	ENSP00000430767:p.Thr764Met					GRM6_ENST00000517717.1_Missense_Mutation_p.T764M|RP11-281O15.4_ENST00000519491.1_RNA	p.T764M	NM_000843.3	NP_000834.2	O15303	GRM6_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.245)	9	2469	-	all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	764						Missense_Mutation	SNP	ENST00000517717.1	37	c.2291C>T	CCDS4442.1	.	.	.	.	.	.	.	.	.	.	G	29.1	4.974798	0.92919	.	.	ENSG00000113262	ENST00000231188;ENST00000517717	D;D	0.88509	-2.39;-2.39	5.17	5.17	0.71159	GPCR, family 3, C-terminal (2);	.	.	.	.	D	0.88808	0.6537	L	0.36672	1.1	0.58432	D	0.999996	P;P	0.52061	0.95;0.949	P;P	0.52514	0.701;0.59	D	0.88479	0.3067	9	0.42905	T	0.14	.	16.5338	0.84367	0.0:0.0:1.0:0.0	.	764;58	O15303;Q5HYM4	GRM6_HUMAN;.	M	764	ENSP00000231188:T764M;ENSP00000430767:T764M	ENSP00000231188:T764M	T	-	2	0	GRM6	178342662	1.000000	0.71417	0.983000	0.44433	0.917000	0.54804	9.661000	0.98601	2.587000	0.87381	0.305000	0.20034	ACG		0.627	GRM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253474.2			23	27	0	0	0	1	0	23	27					A	178410056	G	A	178410056	3	1	435	1	0	0	0	0	1	0	0	0	6801	1145	40	1	350	1	GRM6	5	178410056	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	17190	178410056	2505204	2999	23924											
GRM6	2916	broad.mit.edu	37	chr5	178413417	178413417	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgaggcccggacgatgggcGtgttgttgtaccgcacgaag	7	7	16	11	6	0	0	0	0	0	0	0	4	0	1	3	3	1	4	3	3	2	3	rs61733044	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:178413417G>A	ENST00000517717.1	-	9	1876	c.1838C>T	c.(1837-1839)aCg>aTg	p.T613M	GRM6_ENST00000231188.5_Missense_Mutation_p.T613M|RP11-281O15.4_ENST00000519491.1_RNA			O15303	GRM6_HUMAN	glutamate receptor, metabotropic 6	613					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|detection of light stimulus involved in visual perception (GO:0050908)|detection of visible light (GO:0009584)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|locomotory behavior (GO:0007626)|positive regulation of calcium ion import (GO:0090280)|regulation of synaptic transmission, glutamatergic (GO:0051966)|retina development in camera-type eye (GO:0060041)|synaptic transmission (GO:0007268)	cell projection (GO:0042995)|endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|new growing cell tip (GO:0035841)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)|protein homodimerization activity (GO:0042803)			NS(2)|breast(4)|endometrium(9)|large_intestine(12)|lung(21)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	55	all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.245)		GACGATGGGCGTGTTGTTGTA	0.672																																						ENST00000231188.5																			0				NS(2)|breast(4)|endometrium(9)|large_intestine(12)|lung(21)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	55						c.(1837-1839)aCg>aTg		glutamate receptor, metabotropic 6		G	MET/THR	3,4403	6.2+/-15.9	0,3,2200	36	34	35		1838	5	0.8	5	dbSNP_129	35	3,8597	3.0+/-9.4	0,3,4297	yes	missense	GRM6	NM_000843.3	81	0,6,6497	AA,AG,GG		0.0349,0.0681,0.0461	probably-damaging	613/878	178413417	6,13000	2203	4300	6503	SO:0001583	missense	2916				detection of visible light|visual perception	integral to plasma membrane		g.chr5:178413417G>A	U82083	CCDS4442.1	5q35	2014-01-28						"GPCR / Class C : Glutamate receptors, metabotropic", "Glutamate receptors"	4598	protein-coding gene	gene with protein product		604096				9215706	Standard	NM_000843		Approved	GPRC1F, mGlu6, MGLUR6, CSNB1B	uc003mjr.3	O15303	OTTHUMG00000130889	ENST00000517717.1:c.1838C>T	5.37:g.178413417G>A	ENSP00000430767:p.Thr613Met					GRM6_ENST00000517717.1_Missense_Mutation_p.T613M|RP11-281O15.4_ENST00000519491.1_RNA	p.T613M	NM_000843.3	NP_000834.2	O15303	GRM6_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.245)	8	2016	-	all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	613						Missense_Mutation	SNP	ENST00000517717.1	37	c.1838C>T	CCDS4442.1	.	.	.	.	.	.	.	.	.	.	G	20.5	3.998623	0.74818	6.81E-4	3.49E-4	ENSG00000113262	ENST00000319065;ENST00000231188;ENST00000517717	D;D	0.90844	-2.74;-2.74	5.02	5.02	0.67125	GPCR, family 3, C-terminal (2);	.	.	.	.	D	0.96503	0.8859	M	0.93462	3.42	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.97445	1.0024	9	0.87932	D	0	.	16.2011	0.82078	0.0:0.0:1.0:0.0	.	769;613	E7EX65;O15303	.;GRM6_HUMAN	M	769;613;613	ENSP00000231188:T613M;ENSP00000430767:T613M	ENSP00000231188:T613M	T	-	2	0	GRM6	178346023	1.000000	0.71417	0.750000	0.31169	0.515000	0.34225	9.661000	0.98601	2.495000	0.84180	0.462000	0.41574	ACG		0.672	GRM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253474.2			8	15	0	0	0	1	0	8	15					A	178413417	G	A	178413417	3	1	435	1	0	0	0	0	1	0	0	0	6801	1145	40	1	807	1	GRM6	5	178413417	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	3361	178413417	2501843	3000	23925											
RUFY1	80230	broad.mit.edu	37	chr5	179034611	179034611	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctggctgaaagatgacgaagCgacacactgtaggcagtgtg	12	7	14	8	2	0	3	0	2	0	1	0	5	0	3	0	2	1	3	0	2	3	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:179034611C>T	ENST00000319449.4	+	17	1946	c.1934C>T	c.(1933-1935)gCg>gTg	p.A645V	RUFY1_ENST00000437570.2_Missense_Mutation_p.A537V|RUFY1_ENST00000508797.1_3'UTR|RUFY1_ENST00000393438.2_Missense_Mutation_p.A537V|RUFY1_ENST00000377001.2_3'UTR	NM_025158.4	NP_079434.3	Q96T51	RUFY1_HUMAN	RUN and FYVE domain containing 1	645					endocytosis (GO:0006897)|regulation of endocytosis (GO:0030100)	cytoplasm (GO:0005737)|endosome (GO:0005768)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)	lipid binding (GO:0008289)|protein transporter activity (GO:0008565)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	26	all_cancers(89;0.00018)|all_epithelial(37;8.37e-05)|Renal(175;0.000159)|Lung NSC(126;0.00108)|all_lung(126;0.00195)	all_cancers(40;0.0322)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GATGACGAAGCGACACACTGT	0.572										HNSCC(44;0.11)																												ENST00000319449.4																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	26						c.(1933-1935)gCg>gTg		RUN and FYVE domain containing 1							127	117	120					5																	179034611		2203	4300	6503	SO:0001583	missense	80230				endocytosis|protein transport	early endosome membrane	lipid binding|zinc ion binding	g.chr5:179034611C>T	AF361055	CCDS4445.2, CCDS34312.1	5q35.3	2008-02-05			ENSG00000176783	ENSG00000176783		"Zinc fingers, FYVE domain containing"	19760	protein-coding gene	gene with protein product		610327				11877430	Standard	NM_001040451		Approved	FLJ22251, ZFYVE12, RABIP4	uc003mka.2	Q96T51	OTTHUMG00000130913	ENST00000319449.4:c.1934C>T	5.37:g.179034611C>T	ENSP00000325594:p.Ala645Val	HNSCC(44;0.11)				RUFY1_ENST00000508797.1_3'UTR|RUFY1_ENST00000437570.2_Missense_Mutation_p.A537V|RUFY1_ENST00000393438.2_Missense_Mutation_p.A537V|RUFY1_ENST00000377001.2_3'UTR	p.A645V	NM_025158.4	NP_079434.3	Q96T51	RUFY1_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		17	1946	+	all_cancers(89;0.00018)|all_epithelial(37;8.37e-05)|Renal(175;0.000159)|Lung NSC(126;0.00108)|all_lung(126;0.00195)	all_cancers(40;0.0322)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)|all_hematologic(541;0.21)	645					Q59FF3|Q71S93|Q9H6I3	Missense_Mutation	SNP	ENST00000319449.4	37	c.1934C>T	CCDS4445.2	.	.	.	.	.	.	.	.	.	.	c	22.4	4.281191	0.80692	.	.	ENSG00000176783	ENST00000319449;ENST00000437570;ENST00000393438;ENST00000360569	T;T;T	0.72051	-0.62;-0.62;-0.62	5.15	5.15	0.70609	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, FYVE-type (2);Zinc finger, FYVE-related (1);Zinc finger, FYVE/PHD-type (1);	0.000000	0.85682	D	0.000000	T	0.68311	0.2987	N	0.04373	-0.215	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.68569	-0.5374	10	0.17832	T	0.49	-13.9125	18.9777	0.92745	0.0:1.0:0.0:0.0	.	645	Q96T51	RUFY1_HUMAN	V	645;537;537;247	ENSP00000325594:A645V;ENSP00000390025:A537V;ENSP00000377087:A537V	ENSP00000325594:A645V	A	+	2	0	RUFY1	178967217	1.000000	0.71417	0.878000	0.34440	0.563000	0.35712	7.776000	0.85560	2.569000	0.86673	0.561000	0.74099	GCG		0.572	RUFY1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000253505.2	NM_001040451		5	49	0	0	0	1	0	5	49					T	179034611	C	T	179034611	3	4	435	1	0	0	0	0	1	0	0	0	13738	768	27	1	2000	1	RUFY1	5	179034611	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	621194	179034611	1880649	3001	23926											
HNRNPH1	3187	broad.mit.edu	37	chr5	179046270	179046270	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aaccaaccatccatccccacCtgtgccctattctttccttg	8	12	3	18	0	1	0	0	0	1	0	4	0	4	0	8	0	3	0	8	0	3	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:179046270C>A	ENST00000356731.5	-	4	2071	c.536G>T	c.(535-537)aGg>aTg	p.R179M	HNRNPH1_ENST00000511300.2_5'Flank|HNRNPH1_ENST00000329433.6_Splice_Site_p.R179M|HNRNPH1_ENST00000442819.2_Splice_Site_p.R179M|HNRNPH1_ENST00000393432.4_Splice_Site_p.R179M|HNRNPH1_ENST00000524180.1_5'Flank|HNRNPH1_ENST00000510411.1_Splice_Site_p.R179M			P31943	HNRH1_HUMAN	heterogeneous nuclear ribonucleoprotein H1 (H)	179	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|regulation of RNA splicing (GO:0043484)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|poly(U) RNA binding (GO:0008266)|RNA binding (GO:0003723)			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(4)|skin(1)	14						CCATCCCCACCTGTGCCCTAT	0.423																																						ENST00000356731.5																			0				breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(4)|skin(1)	14						c.e4+1		heterogeneous nuclear ribonucleoprotein H1 (H)							256	247	250					5																	179046270		2203	4300	6503	SO:0001630	splice_region_variant	3187				regulation of RNA splicing	actin cytoskeleton|catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|poly(U) RNA binding|protein binding	g.chr5:179046270C>A	BC001348	CCDS4446.1	5q35.3	2013-02-12		2008-04-18	ENSG00000169045	ENSG00000169045		"RNA binding motif (RRM) containing"	5041	protein-coding gene	gene with protein product		601035		HNRPH1		7499401	Standard	NM_005520		Approved	hnRNPH	uc003mkf.5	P31943	OTTHUMG00000130908	ENST00000356731.5:c.536+1G>T	5.37:g.179046270C>A						HNRNPH1_ENST00000510411.1_Splice_Site_p.R179_splice|HNRNPH1_ENST00000393432.4_Splice_Site_p.R179_splice|HNRNPH1_ENST00000329433.6_Splice_Site_p.R179_splice|HNRNPH1_ENST00000442819.2_Splice_Site_p.R179_splice	p.R179_splice			P31943	HNRH1_HUMAN			4	2071	-			179			RRM 2.		B3KW86|D3DWQ2|Q6IBM4	Splice_Site	SNP	ENST00000356731.5	37	c.536_splice	CCDS4446.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	20.5|20.5	4.007756|4.007756	0.75046|0.75046	.|.	.|.	ENSG00000169045|ENSG00000169045	ENST00000521173|ENST00000393432;ENST00000442819;ENST00000356731;ENST00000329433;ENST00000510411;ENST00000523137;ENST00000505811;ENST00000519056	.|T;T;T;T;T;T;T;T	.|0.13307	.|2.6;2.6;2.6;2.6;2.6;2.6;2.6;2.6	5.76|5.76	5.76|5.76	0.90799|0.90799	.|Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	.|0.070020	.|0.85682	.|D	.|0.000000	T|T	0.58409|0.58409	0.2120|0.2120	H|H	0.98370|0.98370	4.215|4.215	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.76071	.|0.987	T|T	0.75717|0.75717	-0.3220|-0.3220	5|10	.|0.87932	.|D	.|0	-7.7475|-7.7475	19.9659|19.9659	0.97266|0.97266	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|179	.|P31943	.|HNRH1_HUMAN	C|M	54|179;179;179;179;179;131;179;127	.|ENSP00000377082:R179M;ENSP00000397797:R179M;ENSP00000349168:R179M;ENSP00000327539:R179M;ENSP00000426275:R179M;ENSP00000427986:R131M;ENSP00000424087:R179M;ENSP00000430970:R127M	.|ENSP00000327539:R179M	G|R	-|-	1|2	0|0	HNRNPH1|HNRNPH1	178978876|178978876	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	7.818000|7.818000	0.86416|0.86416	2.711000|2.711000	0.92665|0.92665	0.650000|0.650000	0.86243|0.86243	GGT|AGG		0.423	HNRNPH1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253497.3	NM_005520	Missense_Mutation	6	192	1	0	3.59834e-05	1	3.7043e-05	6	192					A	179046270	C	A	179046270	5	1	435	1	0	0	0	0	0	0	1	0	7266	695	24	5	849	5	HNRNPH1	5	179046270	Splice_Site	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	11659	179046270	1868990	3002	23927											
TBC1D9B	23061	broad.mit.edu	37	chr5	179297286	179297286	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acgaactccttgaagttgatCagcgagtccttgttttcgtc	8	14	9	10	3	1	2	1	2	0	0	5	4	3	2	2	0	2	2	2	0	2	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:179297286C>T	ENST00000356834.3	-	16	2731	c.2694G>A	c.(2692-2694)ctG>ctA	p.L898L	TBC1D9B_ENST00000355235.3_Silent_p.L898L|TBC1D9B_ENST00000519746.1_Silent_p.L74L|TBC1D9B_ENST00000444477.2_Silent_p.L56L	NM_198868.2	NP_942568.2	Q66K14	TBC9B_HUMAN	TBC1 domain family, member 9B (with GRAM domain)	898	EF-hand. {ECO:0000255|PROSITE- ProRule:PRU00448}.					integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|Rab GTPase activator activity (GO:0005097)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	28	all_cancers(89;0.000197)|all_epithelial(37;6.84e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0236)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TGAAGTTGATCAGCGAGTCCT	0.602																																						ENST00000356834.3																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	28						c.(2692-2694)ctG>ctA		TBC1 domain family, member 9B (with GRAM domain)							114	119	117					5																	179297286		2203	4300	6503	SO:0001819	synonymous_variant	23061					integral to membrane|intracellular	calcium ion binding|Rab GTPase activator activity	g.chr5:179297286C>T	AB014576	CCDS4450.1, CCDS43408.1	5q35.3	2013-01-10			ENSG00000197226	ENSG00000197226		"EF-hand domain containing"	29097	protein-coding gene	gene with protein product						9734811	Standard	NM_198868		Approved	KIAA0676	uc003mlh.3	Q66K14	OTTHUMG00000130911	ENST00000356834.3:c.2694G>A	5.37:g.179297286C>T						TBC1D9B_ENST00000444477.2_Silent_p.L56L|TBC1D9B_ENST00000355235.3_Silent_p.L898L|TBC1D9B_ENST00000519746.1_Silent_p.L74L	p.L898L	NM_198868.2	NP_942568.2	Q66K14	TBC9B_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		16	2731	-	all_cancers(89;0.000197)|all_epithelial(37;6.84e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0236)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	898			EF-hand.		D3DWQ5|D3DWQ6|O75163|Q53EY0|Q6MZI2|Q96H49	Silent	SNP	ENST00000356834.3	37	c.2694G>A	CCDS43408.1																																																																																				0.602	TBC1D9B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253501.3	NM_015043		43	52	0	0	0	1	0	43	52					T	179297286	C	T	179297286	2	4	435	1	0	0	0	0	0	0	0	1	15625	813	29	3		3	TBC1D9B	5	179297286	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	251016	179297286	1617974	3003	23928											
TBC1D9B	23061	broad.mit.edu	37	chr5	179297355	179297355	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agaggtgtgtgggagccacaGgcccagggtgtcaggctggc	7	6	19	9	0	1	1	1	0	0	1	1	2	1	2	2	6	1	1	2	6	0	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:179297355G>T	ENST00000356834.3	-	16	2662	c.2625C>A	c.(2623-2625)gcC>gcA	p.A875A	TBC1D9B_ENST00000355235.3_Silent_p.A875A|TBC1D9B_ENST00000519746.1_Silent_p.A51A|TBC1D9B_ENST00000444477.2_Silent_p.A33A	NM_198868.2	NP_942568.2	Q66K14	TBC9B_HUMAN	TBC1 domain family, member 9B (with GRAM domain)	875						integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|Rab GTPase activator activity (GO:0005097)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	28	all_cancers(89;0.000197)|all_epithelial(37;6.84e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0236)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GGGAGCCACAGGCCCAGGGTG	0.612																																						ENST00000356834.3																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	28						c.(2623-2625)gcC>gcA		TBC1 domain family, member 9B (with GRAM domain)							98	101	100					5																	179297355		2203	4300	6503	SO:0001819	synonymous_variant	23061					integral to membrane|intracellular	calcium ion binding|Rab GTPase activator activity	g.chr5:179297355G>T	AB014576	CCDS4450.1, CCDS43408.1	5q35.3	2013-01-10			ENSG00000197226	ENSG00000197226		"EF-hand domain containing"	29097	protein-coding gene	gene with protein product						9734811	Standard	NM_198868		Approved	KIAA0676	uc003mlh.3	Q66K14	OTTHUMG00000130911	ENST00000356834.3:c.2625C>A	5.37:g.179297355G>T						TBC1D9B_ENST00000444477.2_Silent_p.A33A|TBC1D9B_ENST00000355235.3_Silent_p.A875A|TBC1D9B_ENST00000519746.1_Silent_p.A51A	p.A875A	NM_198868.2	NP_942568.2	Q66K14	TBC9B_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		16	2662	-	all_cancers(89;0.000197)|all_epithelial(37;6.84e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0236)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	875					D3DWQ5|D3DWQ6|O75163|Q53EY0|Q6MZI2|Q96H49	Silent	SNP	ENST00000356834.3	37	c.2625C>A	CCDS43408.1																																																																																				0.612	TBC1D9B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253501.3	NM_015043		25	64	1	0	2.79863e-10	1	2.98826e-10	25	64					T	179297355	G	T	179297355	2	4	435	1	0	0	0	0	0	0	0	1	15625	987	35	5		5	TBC1D9B	5	179297355	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	69	179297355	1617905	3004	23929											
GFPT2	9945	broad.mit.edu	37	chr5	179740882	179740882	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtctcgcgagagatggagctGcccacggtgttggtgacgcc	6	8	16	11	4	1	2	0	1	1	1	2	5	1	3	2	3	2	2	2	3	0	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:179740882G>A	ENST00000253778.8	-	14	1525	c.1356C>T	c.(1354-1356)ggC>ggT	p.G452G	GFPT2_ENST00000520165.1_5'Flank	NM_005110.2	NP_005101.1	O94808	GFPT2_HUMAN	glutamine-fructose-6-phosphate transaminase 2	452	SIS 1. {ECO:0000255|PROSITE- ProRule:PRU00797}.				carbohydrate biosynthetic process (GO:0016051)|cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|energy reserve metabolic process (GO:0006112)|fructose 6-phosphate metabolic process (GO:0006002)|glutamine metabolic process (GO:0006541)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|UDP-N-acetylglucosamine biosynthetic process (GO:0006048)	cytosol (GO:0005829)	carbohydrate binding (GO:0030246)|glutamine-fructose-6-phosphate transaminase (isomerizing) activity (GO:0004360)			breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34	all_cancers(89;4.97e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	Medulloblastoma(196;0.0392)|all_neural(177;0.0529)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		L-Glutamine(DB00130)	AGATGGAGCTGCCCACGGTGT	0.711																																						ENST00000253778.8																			0				breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34						c.(1354-1356)ggC>ggT		glutamine-fructose-6-phosphate transaminase 2	L-Glutamine(DB00130)						19	25	23					5																	179740882		2186	4282	6468	SO:0001819	synonymous_variant	9945				dolichol-linked oligosaccharide biosynthetic process|energy reserve metabolic process|fructose 6-phosphate metabolic process|glutamine metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process	cytosol	glutamine-fructose-6-phosphate transaminase (isomerizing) activity|sugar binding	g.chr5:179740882G>A	AB016789	CCDS43411.1	5q	2008-07-18			ENSG00000131459	ENSG00000131459			4242	protein-coding gene	gene with protein product	"glutamine: fructose-6-phosphate aminotransferase 2"	603865				10198162	Standard	NM_005110		Approved	GFAT2	uc003mlw.1	O94808	OTTHUMG00000163442	ENST00000253778.8:c.1356C>T	5.37:g.179740882G>A							p.G452G	NM_005110.2	NP_005101.1	O94808	GFPT2_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		14	1525	-	all_cancers(89;4.97e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	Medulloblastoma(196;0.0392)|all_neural(177;0.0529)	452			SIS 1.		Q53XM2|Q9BWS4	Silent	SNP	ENST00000253778.8	37	c.1356C>T	CCDS43411.1																																																																																				0.711	GFPT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373444.4	NM_005110		8	8	0	0	0	1	0	8	8					A	179740882	G	A	179740882	2	1	435	1	0	0	0	0	0	0	0	1	6346	1306	46	3		3	GFPT2	5	179740882	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	443527	179740882	1174378	3005	23930											
CNOT6	57472	broad.mit.edu	37	chr5	180001094	180001094	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaataacatcagtggctgccCgcaccccctcatcccctctg	8	8	7	18	1	3	0	2	0	1	0	4	1	4	0	5	1	2	2	5	1	2	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:180001094C>T	ENST00000393356.1	+	14	1992	c.1568C>T	c.(1567-1569)cCg>cTg	p.P523L	CNOT6_ENST00000261951.4_Missense_Mutation_p.P523L			Q9ULM6	CNOT6_HUMAN	CCR4-NOT transcription complex, subunit 6	523	Nuclease domain. {ECO:0000250}.				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|gene silencing by miRNA (GO:0035195)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, no-go decay (GO:0070966)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytoplasmic mRNA processing body assembly (GO:0010606)|positive regulation of ligand-dependent nuclear receptor transcription coactivator activity (GO:2000327)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|transcription, DNA-templated (GO:0006351)	CCR4-NOT complex (GO:0030014)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	exoribonuclease activity (GO:0004532)|metal ion binding (GO:0046872)|poly(A)-specific ribonuclease activity (GO:0004535)|RNA binding (GO:0003723)			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|skin(1)	23	all_cancers(89;3.3e-05)|all_epithelial(37;7.38e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00543)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	OV - Ovarian serous cystadenocarcinoma(192;0.023)		AGTGGCTGCCCGCACCCCCTC	0.532																																						ENST00000393356.1																			0				central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|skin(1)	23						c.(1567-1569)cCg>cTg		CCR4-NOT transcription complex, subunit 6							125	122	123					5																	180001094		2203	4300	6503	SO:0001583	missense	57472				nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	exonuclease activity|metal ion binding|protein binding|RNA binding	g.chr5:180001094C>T	AB033020	CCDS4455.1	5q35.3	2014-06-17			ENSG00000113300	ENSG00000113300			14099	protein-coding gene	gene with protein product		608951				11889047	Standard	XM_005265953		Approved	CCR4, KIAA1194, Ccr4a	uc003mlx.3	Q9ULM6	OTTHUMG00000130935	ENST00000393356.1:c.1568C>T	5.37:g.180001094C>T	ENSP00000377024:p.Pro523Leu					CNOT6_ENST00000261951.4_Missense_Mutation_p.P523L	p.P523L			Q9ULM6	CNOT6_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	OV - Ovarian serous cystadenocarcinoma(192;0.023)	14	1992	+	all_cancers(89;3.3e-05)|all_epithelial(37;7.38e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00543)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)	523					A7MD46|D3DWR0	Missense_Mutation	SNP	ENST00000393356.1	37	c.1568C>T	CCDS4455.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.105206	0.77096	.	.	ENSG00000113300	ENST00000261951;ENST00000393356	T;T	0.27890	1.64;1.64	5.72	5.72	0.89469	Endonuclease/exonuclease/phosphatase (2);	0.000000	0.85682	D	0.000000	T	0.71685	0.3369	H	0.96662	3.86	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.81571	-0.0872	9	.	.	.	-8.9647	19.8938	0.96942	0.0:1.0:0.0:0.0	.	523	Q9ULM6	CNOT6_HUMAN	L	523	ENSP00000261951:P523L;ENSP00000377024:P523L	.	P	+	2	0	CNOT6	179933700	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.818000	0.86416	2.703000	0.92315	0.460000	0.39030	CCG		0.532	CNOT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253532.1	NM_015455		39	44	0	0	0	1	0	39	44					T	180001094	C	T	180001094	3	4	435	1	0	0	0	0	1	0	0	0	3622	652	23	2	1610	2	CNOT6	5	180001094	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	260212	180001094	914166	3006	23931											
FLT4	2324	broad.mit.edu	37	chr5	180036931	180036931	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctttgtaggtcgttggggTcatggggaattcctcaaatg	7	13	14	7	1	2	0	2	0	0	0	4	1	3	1	2	5	0	2	2	5	3	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:180036931T>C	ENST00000261937.6	-	28	3859	c.3781A>G	c.(3781-3783)Acc>Gcc	p.T1261A	FLT4_ENST00000502649.1_Missense_Mutation_p.T1261A|FLT4_ENST00000393347.3_Missense_Mutation_p.T1261A	NM_182925.4	NP_891555.2	P35916	VGFR3_HUMAN	fms-related tyrosine kinase 4	1261					blood vessel morphogenesis (GO:0048514)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|lymph vessel development (GO:0001945)|lymphangiogenesis (GO:0001946)|negative regulation of apoptotic process (GO:0043066)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of JNK cascade (GO:0046330)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of protein kinase C signaling (GO:0090037)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation vascular endothelial growth factor production (GO:0010575)|protein autophosphorylation (GO:0046777)|regulation of blood vessel remodeling (GO:0060312)|sprouting angiogenesis (GO:0002040)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor signaling pathway (GO:0038084)|vasculature development (GO:0001944)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|protein phosphatase binding (GO:0019903)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Axitinib(DB06626)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	GTCGTTGGGGTCATGGGGAAT	0.612																																					Colon(97;1075 1466 27033 27547 35871)	ENST00000261937.6																			0				NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						c.(3781-3783)Acc>Gcc		fms-related tyrosine kinase 4	Sorafenib(DB00398)|Sunitinib(DB01268)						141	131	135					5																	180036931		2203	4300	6503	SO:0001583	missense	2324				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity	g.chr5:180036931T>C	X68203	CCDS4457.1, CCDS43412.1	5q34-q35	2013-01-29			ENSG00000037280	ENSG00000037280	2.7.10.1	"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	3767	protein-coding gene	gene with protein product		136352				1319394	Standard	NM_002020		Approved	VEGFR3, PCL	uc003mlz.4	P35916	OTTHUMG00000130931	ENST00000261937.6:c.3781A>G	5.37:g.180036931T>C	ENSP00000261937:p.Thr1261Ala					FLT4_ENST00000502649.1_Missense_Mutation_p.T1261A|FLT4_ENST00000393347.3_Missense_Mutation_p.T1261A	p.T1261A	NM_182925.4	NP_891555.2	P35916	VGFR3_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	28	3859	-	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	1261					A8K6L4|B5A926|Q16067|Q86W07|Q86W08	Missense_Mutation	SNP	ENST00000261937.6	37	c.3781A>G	CCDS4457.1	.	.	.	.	.	.	.	.	.	.	T	7.521	0.656677	0.14580	.	.	ENSG00000037280	ENST00000261937;ENST00000393347;ENST00000502649	T;T;T	0.76186	-1.0;-0.96;-0.95	4.79	3.62	0.41486	.	.	.	.	.	T	0.61615	0.2361	L	0.41027	1.25	0.42359	D	0.992407	B;B	0.21606	0.011;0.058	B;B	0.18871	0.004;0.023	T	0.53265	-0.8463	9	0.25751	T	0.34	.	7.9145	0.29810	0.0:0.1614:0.0:0.8386	.	1261;1261	E9PD35;P35916	.;VGFR3_HUMAN	A	1261	ENSP00000261937:T1261A;ENSP00000377016:T1261A;ENSP00000426057:T1261A	ENSP00000261937:T1261A	T	-	1	0	FLT4	179969537	1.000000	0.71417	0.998000	0.56505	0.603000	0.37013	1.857000	0.39399	0.804000	0.34136	0.459000	0.35465	ACC		0.612	FLT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253527.4			30	37	0	0	0	1	0	30	37					C	180036931	T	C	180036931	3	2	435	1	0	0	0	0	1	0	0	0	5944	1667	58	4	330	4	FLT4	5	180036931	Missense_Mutation	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	35837	180036931	878329	3007	23932											
FLT4	2324	broad.mit.edu	37	chr5	180057555	180057555	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcccgcctccaagtctcacCtctcacgaacacgtaggagc	9	6	9	17	3	2	0	2	0	2	0	5	2	3	1	4	2	2	1	4	2	3	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:180057555C>A	ENST00000261937.6	-	3	478	c.400G>T	c.(400-402)Gac>Tac	p.D134Y	FLT4_ENST00000502649.1_Splice_Site_p.D134Y|FLT4_ENST00000393347.3_Splice_Site_p.D134Y|FLT4_ENST00000424276.2_5'UTR	NM_182925.4	NP_891555.2	P35916	VGFR3_HUMAN	fms-related tyrosine kinase 4	134					blood vessel morphogenesis (GO:0048514)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|lymph vessel development (GO:0001945)|lymphangiogenesis (GO:0001946)|negative regulation of apoptotic process (GO:0043066)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of JNK cascade (GO:0046330)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of protein kinase C signaling (GO:0090037)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation vascular endothelial growth factor production (GO:0010575)|protein autophosphorylation (GO:0046777)|regulation of blood vessel remodeling (GO:0060312)|sprouting angiogenesis (GO:0002040)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor signaling pathway (GO:0038084)|vasculature development (GO:0001944)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|protein phosphatase binding (GO:0019903)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Axitinib(DB06626)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	CAAGTCTCACCTCTCACGAAC	0.657																																					Colon(97;1075 1466 27033 27547 35871)	ENST00000261937.6																			0				NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						c.e3+1		fms-related tyrosine kinase 4	Sorafenib(DB00398)|Sunitinib(DB01268)						69	61	64					5																	180057555		2202	4298	6500	SO:0001630	splice_region_variant	2324				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity	g.chr5:180057555C>A	X68203	CCDS4457.1, CCDS43412.1	5q34-q35	2013-01-29			ENSG00000037280	ENSG00000037280	2.7.10.1	"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	3767	protein-coding gene	gene with protein product		136352				1319394	Standard	NM_002020		Approved	VEGFR3, PCL	uc003mlz.4	P35916	OTTHUMG00000130931	ENST00000261937.6:c.400+1G>T	5.37:g.180057555C>A						FLT4_ENST00000502649.1_Splice_Site_p.D134_splice|FLT4_ENST00000393347.3_Splice_Site_p.D134_splice|FLT4_ENST00000424276.2_5'UTR	p.D134_splice	NM_182925.4	NP_891555.2	P35916	VGFR3_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	3	478	-	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	134					A8K6L4|B5A926|Q16067|Q86W07|Q86W08	Splice_Site	SNP	ENST00000261937.6	37	c.400_splice	CCDS4457.1	.	.	.	.	.	.	.	.	.	.	C	25.3	4.620467	0.87460	.	.	ENSG00000037280	ENST00000261937;ENST00000393347;ENST00000502649	T;T;T	0.50813	0.73;0.73;0.73	4.9	4.9	0.64082	Tyrosine-protein kinase, vascular endothelial growth factor receptor (VEGFR), N-terminal (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.69922	0.3165	M	0.79123	2.44	0.80722	D	1	D;D;P;P	0.89917	1.0;1.0;0.939;0.939	D;D;P;P	0.74023	0.976;0.982;0.685;0.685	T	0.72070	-0.4401	8	.	.	.	.	18.5214	0.90954	0.0:1.0:0.0:0.0	.	134;134;134;134	B5A927;P35916-3;E9PD35;P35916	.;.;.;VGFR3_HUMAN	Y	134	ENSP00000261937:D134Y;ENSP00000377016:D134Y;ENSP00000426057:D134Y	.	D	-	1	0	FLT4	179990161	1.000000	0.71417	1.000000	0.80357	0.930000	0.56654	7.142000	0.77339	2.465000	0.83290	0.456000	0.33151	GAC		0.657	FLT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253527.4		Missense_Mutation	13	8	1	0	2.48551e-13	1	2.69865e-13	13	8					A	180057555	C	A	180057555	5	1	435	1	0	0	0	0	0	0	1	0	5944	695	24	5	3811	5	FLT4	5	180057555	Splice_Site	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	20624	180057555	857705	3008	23933											
TRIM7	81786	broad.mit.edu	37	chr5	180622224	180622224	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagagaaaagcgggaacacgCgctcctggaagttgacgcgg	12	4	15	10	5	0	2	0	1	0	1	1	5	1	4	1	3	2	2	1	3	4	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:180622224C>T	ENST00000274773.7	-	7	1539	c.1478G>A	c.(1477-1479)cGc>cAc	p.R493H	TRIM7_ENST00000422067.2_Missense_Mutation_p.R285H|TRIM7_ENST00000393319.3_Missense_Mutation_p.R311H|CTC-338M12.5_ENST00000508877.1_RNA|TRIM7_ENST00000504241.1_5'UTR|CTC-338M12.6_ENST00000502812.2_RNA|CTC-338M12.6_ENST00000509080.1_RNA|TRIM7_ENST00000361809.3_Missense_Mutation_p.R285H|CTC-338M12.6_ENST00000512508.1_RNA|TRIM7_ENST00000393315.1_Missense_Mutation_p.R285H|CTC-338M12.5_ENST00000514487.1_RNA	NM_203293.1	NP_976038.1	Q9C029	TRIM7_HUMAN	tripartite motif containing 7	493	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.					cytoplasm (GO:0005737)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			NS(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(2)|skin(1)|stomach(1)	17	all_cancers(89;6.03e-06)|all_epithelial(37;7.1e-07)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684)	all_cancers(40;0.000172)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_lung(500;0.0221)|all_hematologic(541;0.0433)|Lung NSC(249;0.132)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;2e-06)|Epithelial(171;1.35e-05)|OV - Ovarian serous cystadenocarcinoma(192;0.000128)|Kidney(146;0.0674)|GBM - Glioblastoma multiforme(465;0.0802)		CGGGAACACGCGCTCCTGGAA	0.647																																					Esophageal Squamous(128;2258 2308 35507 48647)	ENST00000393315.1																			0				NS(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(2)|skin(1)|stomach(1)	17						c.(853-855)cGc>cAc		tripartite motif containing 7							64	44	51					5																	180622224		2203	4300	6503	SO:0001583	missense	81786					cytoplasm|nucleus	zinc ion binding	g.chr5:180622224C>T	AF220032	CCDS4462.1, CCDS4463.1, CCDS4464.1, CCDS43414.1	5q35.3	2013-01-09	2011-01-25		ENSG00000146054	ENSG00000146054		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	16278	protein-coding gene	gene with protein product	"glycogenin-interacting protein", "tripartite motif protein TRIM7"	609315	"tripartite motif-containing 7"			11331580	Standard	NM_203294		Approved	RNF90, GNIP	uc003mmz.1	Q9C029	OTTHUMG00000130963	ENST00000274773.7:c.1478G>A	5.37:g.180622224C>T	ENSP00000274773:p.Arg493His					TRIM7_ENST00000361809.3_Missense_Mutation_p.R285H|TRIM7_ENST00000274773.7_Missense_Mutation_p.R493H|TRIM7_ENST00000393319.3_Missense_Mutation_p.R311H|TRIM7_ENST00000422067.2_Missense_Mutation_p.R285H|TRIM7_ENST00000504241.1_5'UTR	p.R285H	NM_203296.1	NP_976041.1	Q9C029	TRIM7_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;2e-06)|Epithelial(171;1.35e-05)|OV - Ovarian serous cystadenocarcinoma(192;0.000128)|Kidney(146;0.0674)|GBM - Glioblastoma multiforme(465;0.0802)	7	1551	-	all_cancers(89;6.03e-06)|all_epithelial(37;7.1e-07)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684)	all_cancers(40;0.000172)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_lung(500;0.0221)|all_hematologic(541;0.0433)|Lung NSC(249;0.132)|Ovarian(839;0.238)	493					A2RUE4|D3DWR7|Q969F5|Q96F67|Q96J89|Q96J90	Missense_Mutation	SNP	ENST00000274773.7	37	c.854G>A	CCDS4462.1	.	.	.	.	.	.	.	.	.	.	C	18.73	3.686042	0.68157	.	.	ENSG00000146054	ENST00000274773;ENST00000393315;ENST00000361809;ENST00000393319;ENST00000422067	T;T;T;T;T	0.61510	0.1;0.1;0.1;0.1;0.1	5.07	4.17	0.49024	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);Butyrophylin-like (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.267217	0.26463	N	0.024229	T	0.78342	0.4268	M	0.88105	2.93	0.30001	N	0.815982	D;D	0.89917	1.0;1.0	D;D	0.77004	0.989;0.982	T	0.78471	-0.2191	10	0.66056	D	0.02	.	13.0414	0.58901	0.0:0.8366:0.1634:0.0	.	493;311	Q9C029;Q9C029-4	TRIM7_HUMAN;.	H	493;285;285;311;285	ENSP00000274773:R493H;ENSP00000376991:R285H;ENSP00000355059:R285H;ENSP00000376994:R311H;ENSP00000391458:R285H	ENSP00000274773:R493H	R	-	2	0	TRIM7	180554830	0.000000	0.05858	0.871000	0.34182	0.996000	0.88848	0.705000	0.25675	1.085000	0.41206	0.478000	0.44815	CGC		0.647	TRIM7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253569.3	NM_203296		3	9	0	0	0	1	0	3	9					T	180622224	C	T	180622224	3	4	435	1	0	0	0	0	1	0	0	0	16540	768	27	1	61	1	TRIM7	5	180622224	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	564669	180622224	293036	3009	23934											
FOXC1	2296	broad.mit.edu	37	chr6	1612302	1612302	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttccagccagtctctgtaccGcacgtccggagctttcgtct	5	12	9	15	4	2	0	0	0	2	0	6	1	4	1	4	1	3	3	4	1	1	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:1612302G>A	ENST00000380874.2	+	1	1622	c.1622G>A	c.(1621-1623)cGc>cAc	p.R541H		NM_001453.2	NP_001444.2	Q12948	FOXC1_HUMAN	forkhead box C1	541					artery morphogenesis (GO:0048844)|blood vessel remodeling (GO:0001974)|brain development (GO:0007420)|camera-type eye development (GO:0043010)|cardiac muscle cell proliferation (GO:0060038)|collagen fibril organization (GO:0030199)|embryonic heart tube development (GO:0035050)|eye development (GO:0001654)|germ cell migration (GO:0008354)|glycosaminoglycan metabolic process (GO:0030203)|heart development (GO:0007507)|in utero embryonic development (GO:0001701)|lacrimal gland development (GO:0032808)|lymph vessel development (GO:0001945)|negative regulation of apoptotic process involved in outflow tract morphogenesis (GO:1902257)|negative regulation of mitotic cell cycle (GO:0045930)|neural crest cell development (GO:0014032)|Notch signaling pathway (GO:0007219)|odontogenesis of dentin-containing tooth (GO:0042475)|ossification (GO:0001503)|ovarian follicle development (GO:0001541)|paraxial mesoderm formation (GO:0048341)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of blood vessel size (GO:0050880)|regulation of organ growth (GO:0046620)|regulation of transcription, DNA-templated (GO:0006355)|skeletal system development (GO:0001501)|somitogenesis (GO:0001756)|ureteric bud development (GO:0001657)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cytoplasm (GO:0005737)|nuclear heterochromatin (GO:0005720)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA binding, bending (GO:0008301)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1)	8	Ovarian(93;0.0733)	all_cancers(2;4.45e-07)|all_epithelial(2;4.33e-05)|all_lung(73;0.0713)|all_hematologic(90;0.0895)		Epithelial(2;0.0904)|OV - Ovarian serous cystadenocarcinoma(45;0.095)|all cancers(2;0.168)		TCTCTGTACCGCACGTCCGGA	0.512																																					Pancreas(133;719 1821 3197 26645 35015)	ENST00000380874.2																			0				large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1)	8						c.(1621-1623)cGc>cAc		forkhead box C1							87	76	80					6																	1612302		2203	4300	6503	SO:0001583	missense	2296				anti-apoptosis|artery morphogenesis|blood vessel remodeling|brain development|camera-type eye development|cardiac muscle cell proliferation|collagen fibril organization|embryonic heart tube development|germ cell migration|glycosaminoglycan metabolic process|lacrimal gland development|lymphangiogenesis|metanephros development|negative regulation of mitotic cell cycle|neural crest cell fate commitment|Notch signaling pathway|odontogenesis of dentine-containing tooth|ossification|ovarian follicle development|paraxial mesodermal cell fate commitment|positive regulation of transcription from RNA polymerase II promoter|regulation of blood vessel size|regulation of organ growth|regulation of sequence-specific DNA binding transcription factor activity|somitogenesis|ureteric bud development|vascular endothelial growth factor receptor signaling pathway|vasculogenesis|ventricular cardiac muscle tissue morphogenesis	nuclear heterochromatin|transcription factor complex	chromatin DNA binding|DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding	g.chr6:1612302G>A	AF048693	CCDS4473.1	6p25	2008-04-10			ENSG00000054598	ENSG00000054598		"Forkhead boxes"	3800	protein-coding gene	gene with protein product		601090		FKHL7, IRID1		7957066, 9620769	Standard	NM_001453		Approved	FREAC3, ARA, IGDA, IHG1	uc003mtp.3	Q12948	OTTHUMG00000016182	ENST00000380874.2:c.1622G>A	6.37:g.1612302G>A	ENSP00000370256:p.Arg541His						p.R541H	NM_001453.2	NP_001444.2	Q12948	FOXC1_HUMAN		Epithelial(2;0.0904)|OV - Ovarian serous cystadenocarcinoma(45;0.095)|all cancers(2;0.168)	1	1622	+	Ovarian(93;0.0733)	all_cancers(2;4.45e-07)|all_epithelial(2;4.33e-05)|all_lung(73;0.0713)|all_hematologic(90;0.0895)	541					Q86UP7|Q9BYM1|Q9NUE5|Q9UDD0|Q9UP06	Missense_Mutation	SNP	ENST00000380874.2	37	c.1622G>A	CCDS4473.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.293132	0.80914	.	.	ENSG00000054598	ENST00000380874	D	0.83335	-1.71	3.74	3.74	0.42951	.	0.000000	0.64402	U	0.000004	T	0.81278	0.4789	L	0.41492	1.28	0.58432	D	0.999998	D	0.71674	0.998	P	0.57324	0.818	D	0.84583	0.0662	10	0.87932	D	0	.	15.3353	0.74247	0.0:0.0:1.0:0.0	.	541	Q12948	FOXC1_HUMAN	H	541	ENSP00000370256:R541H	ENSP00000370256:R541H	R	+	2	0	FOXC1	1557301	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	6.107000	0.71517	1.941000	0.56285	0.448000	0.29417	CGC		0.512	FOXC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043450.1			10	17	0	0	0	1	0	10	17					A	1612302	G	A	1612302	3	1	435	1	0	0	0	0	1	0	0	0	5994	1087	38	1	1624	1	FOXC1	6	1612302	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08		1612302	169502765	3010	23935											
RIPK1	8737	broad.mit.edu	37	chr6	3077075	3077075	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agaatgcaaccagacatgtcCttgaatgtcattaagatgaa	16	10	8	7	0	1	5	1	2	0	3	2	5	2	5	2	0	2	1	2	0	5	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:3077075C>A	ENST00000259808.4	+	2	316	c.18C>A	c.(16-18)tcC>tcA	p.S6S	RIPK1_ENST00000479389.1_Intron|RIPK1_ENST00000541791.1_Silent_p.S6S|RIPK1_ENST00000380409.2_Silent_p.S6S			Q13546	RIPK1_HUMAN	receptor (TNFRSF)-interacting serine-threonine kinase 1	6					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of JUN kinase activity (GO:0007257)|amyloid fibril formation (GO:1990000)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cellular protein catabolic process (GO:0044257)|cellular response to growth factor stimulus (GO:0071363)|cellular response to tumor necrosis factor (GO:0071356)|extrinsic apoptotic signaling pathway (GO:0097191)|innate immune response (GO:0045087)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|necroptotic process (GO:0070266)|necroptotic signaling pathway (GO:0097527)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|peptidyl-serine autophosphorylation (GO:0036289)|positive regulation of apoptotic process (GO:0043065)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of JNK cascade (GO:0046330)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of necroptotic process (GO:0060545)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of programmed cell death (GO:0043068)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of type I interferon production (GO:0032481)|protein autophosphorylation (GO:0046777)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|regulation of ATP:ADP antiporter activity (GO:0070926)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|response to tumor necrosis factor (GO:0034612)|ripoptosome assembly (GO:0097343)|ripoptosome assembly involved in necroptotic process (GO:1901026)|T cell apoptotic process (GO:0070231)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	cytosol (GO:0005829)|death-inducing signaling complex (GO:0031264)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|receptor complex (GO:0043235)|ripoptosome (GO:0097342)	ATP binding (GO:0005524)|death domain binding (GO:0070513)|death receptor binding (GO:0005123)|identical protein binding (GO:0042802)|protein complex binding (GO:0032403)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	23	Ovarian(93;0.0386)	all_hematologic(90;0.0895)				CAGACATGTCCTTGAATGTCA	0.488																																						ENST00000259808.4																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	23						c.(16-18)tcC>tcA		receptor (TNFRSF)-interacting serine-threonine kinase 1							76	70	72					6																	3077075		2203	4300	6503	SO:0001819	synonymous_variant	8737				activation of caspase activity|activation of JUN kinase activity|activation of pro-apoptotic gene products|induction of apoptosis by extracellular signals|induction of necroptosis by extracellular signals|innate immune response|MyD88-independent toll-like receptor signaling pathway|positive regulation of anti-apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-8 production|positive regulation of NF-kappaB transcription factor activity|positive regulation of reactive oxygen species metabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|protein autophosphorylation|regulation of ATP:ADP antiporter activity|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|death-inducing signaling complex|endosome membrane|mitochondrion|receptor complex	ATP binding|death domain binding|death receptor binding|protein serine/threonine kinase activity	g.chr6:3077075C>A	U25994	CCDS4482.1	6p25.2	2008-02-05			ENSG00000137275	ENSG00000137275			10019	protein-coding gene	gene with protein product		603453				7538908, 8612133	Standard	XM_005249458		Approved	RIP	uc003mux.3	Q13546	OTTHUMG00000014134	ENST00000259808.4:c.18C>A	6.37:g.3077075C>A						RIPK1_ENST00000541791.1_Silent_p.S6S|RIPK1_ENST00000380409.2_Silent_p.S6S|RIPK1_ENST00000479389.1_Intron	p.S6S			Q13546	RIPK1_HUMAN			2	316	+	Ovarian(93;0.0386)	all_hematologic(90;0.0895)	6					A0AV89|B2RAG1|B4E3F9|Q13180|Q59H33	Silent	SNP	ENST00000259808.4	37	c.18C>A	CCDS4482.1																																																																																				0.488	RIPK1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039659.2	NM_003804		3	30	1	0	0.150653	1	0.151081	3	30					A	3077075	C	A	3077075	2	1	435	1	0	0	0	0	0	0	0	1	13380	668	24	5		5	RIPK1	6	3077075	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	1464773	3077075	168037992	3011	23936											
RIPK1	8737	broad.mit.edu	37	chr6	3085632	3085632	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcgaatccggaagctcggccGacatttcctggtaagagcat	10	8	12	11	4	0	1	0	0	0	1	3	4	2	2	3	3	2	3	3	3	3	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:3085632G>A	ENST00000259808.4	+	6	1126	c.828G>A	c.(826-828)ccG>ccA	p.P276P	RIPK1_ENST00000479389.1_3'UTR|RIPK1_ENST00000541791.1_Silent_p.P230P|RIPK1_ENST00000380409.2_Silent_p.P276P			Q13546	RIPK1_HUMAN	receptor (TNFRSF)-interacting serine-threonine kinase 1	276	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of JUN kinase activity (GO:0007257)|amyloid fibril formation (GO:1990000)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cellular protein catabolic process (GO:0044257)|cellular response to growth factor stimulus (GO:0071363)|cellular response to tumor necrosis factor (GO:0071356)|extrinsic apoptotic signaling pathway (GO:0097191)|innate immune response (GO:0045087)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|necroptotic process (GO:0070266)|necroptotic signaling pathway (GO:0097527)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|peptidyl-serine autophosphorylation (GO:0036289)|positive regulation of apoptotic process (GO:0043065)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of JNK cascade (GO:0046330)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of necroptotic process (GO:0060545)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of programmed cell death (GO:0043068)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of type I interferon production (GO:0032481)|protein autophosphorylation (GO:0046777)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|regulation of ATP:ADP antiporter activity (GO:0070926)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|response to tumor necrosis factor (GO:0034612)|ripoptosome assembly (GO:0097343)|ripoptosome assembly involved in necroptotic process (GO:1901026)|T cell apoptotic process (GO:0070231)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	cytosol (GO:0005829)|death-inducing signaling complex (GO:0031264)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|receptor complex (GO:0043235)|ripoptosome (GO:0097342)	ATP binding (GO:0005524)|death domain binding (GO:0070513)|death receptor binding (GO:0005123)|identical protein binding (GO:0042802)|protein complex binding (GO:0032403)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	23	Ovarian(93;0.0386)	all_hematologic(90;0.0895)				AAGCTCGGCCGACATTTCCTG	0.468																																						ENST00000259808.4																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	23						c.(826-828)ccG>ccA		receptor (TNFRSF)-interacting serine-threonine kinase 1							74	71	72					6																	3085632		2203	4300	6503	SO:0001819	synonymous_variant	8737				activation of caspase activity|activation of JUN kinase activity|activation of pro-apoptotic gene products|induction of apoptosis by extracellular signals|induction of necroptosis by extracellular signals|innate immune response|MyD88-independent toll-like receptor signaling pathway|positive regulation of anti-apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-8 production|positive regulation of NF-kappaB transcription factor activity|positive regulation of reactive oxygen species metabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|protein autophosphorylation|regulation of ATP:ADP antiporter activity|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|death-inducing signaling complex|endosome membrane|mitochondrion|receptor complex	ATP binding|death domain binding|death receptor binding|protein serine/threonine kinase activity	g.chr6:3085632G>A	U25994	CCDS4482.1	6p25.2	2008-02-05			ENSG00000137275	ENSG00000137275			10019	protein-coding gene	gene with protein product		603453				7538908, 8612133	Standard	XM_005249458		Approved	RIP	uc003mux.3	Q13546	OTTHUMG00000014134	ENST00000259808.4:c.828G>A	6.37:g.3085632G>A						RIPK1_ENST00000541791.1_Silent_p.P230P|RIPK1_ENST00000380409.2_Silent_p.P276P|RIPK1_ENST00000479389.1_3'UTR	p.P276P			Q13546	RIPK1_HUMAN			6	1126	+	Ovarian(93;0.0386)	all_hematologic(90;0.0895)	276			Protein kinase.		A0AV89|B2RAG1|B4E3F9|Q13180|Q59H33	Silent	SNP	ENST00000259808.4	37	c.828G>A	CCDS4482.1																																																																																				0.468	RIPK1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039659.2	NM_003804		12	17	0	0	0	1	0	12	17					A	3085632	G	A	3085632	2	1	435	1	0	0	0	0	0	0	0	1	13380	1045	37	2		2	RIPK1	6	3085632	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	8557	3085632	168029435	3012	23937											
C6orf146	222826	broad.mit.edu	37	chr6	4070021	4070021	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gggccagcagagacctaatgGcattggcagtccagggtaag	11	6	15	9	0	0	1	0	0	0	1	1	2	1	1	3	4	1	4	3	4	2	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:4070021G>A	ENST00000274673.3	-	7	839	c.436C>T	c.(436-438)Cca>Tca	p.P146S	FAM217A_ENST00000380188.2_5'UTR	NM_173563.2	NP_775834.2	Q8IXS0	F217A_HUMAN	family with sequence similarity 217, member A	146																	AGACCTAATGGCATTGGCAGT	0.393																																						ENST00000274673.3																			0											c.(436-438)Cca>Tca		family with sequence similarity 217, member A							92	84	87					6																	4070021		2203	4300	6503	SO:0001583	missense	222826							g.chr6:4070021G>A	BC039349	CCDS4489.1	6p25.1	2012-02-07	2012-02-07	2012-02-07	ENSG00000145975	ENSG00000145975			21362	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 146"	C6orf146			Standard	NM_173563		Approved	MGC43581	uc003mvx.3	Q8IXS0	OTTHUMG00000014159	ENST00000274673.3:c.436C>T	6.37:g.4070021G>A	ENSP00000274673:p.Pro146Ser					FAM217A_ENST00000380188.2_5'UTR	p.P146S	NM_173563.2	NP_775834.2	Q8IXS0	CF146_HUMAN			7	839	-			146					Q5JYK1	Missense_Mutation	SNP	ENST00000274673.3	37	c.436C>T	CCDS4489.1	.	.	.	.	.	.	.	.	.	.	G	10.56	1.384974	0.25031	.	.	ENSG00000145975	ENST00000274673;ENST00000470599	T	0.24151	1.87	5.53	3.77	0.43336	.	0.368607	0.23594	N	0.046508	T	0.11281	0.0275	L	0.34521	1.04	0.09310	N	1	D	0.55605	0.972	P	0.47470	0.548	T	0.04041	-1.0982	10	0.87932	D	0	-5.1941	8.1047	0.30879	0.1779:0.0:0.8221:0.0	.	146	Q8IXS0	CF146_HUMAN	S	146;274	ENSP00000274673:P146S	ENSP00000274673:P146S	P	-	1	0	C6orf146	4015020	0.752000	0.28338	0.029000	0.17559	0.001000	0.01503	1.251000	0.32862	0.906000	0.36621	-0.145000	0.13849	CCA		0.393	FAM217A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352577.2	NM_173563		27	60	0	0	0	1	0	27	60					A	4070021	G	A	4070021	3	1	435	1	0	0	0	0	1	0	0	0	2335	1203	42	3	1094	3	C6orf146	6	4070021	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	984389	4070021	167045046	3013	23938											
PECI	10455	broad.mit.edu	37	chr6	4130661	4130661	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tgaacatgatctttgtgatgCcatcttcggaggtcaccacc	9	12	9	11	1	3	3	1	3	2	0	4	4	3	4	3	2	2	0	3	2	1	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:4130661C>T	ENST00000380118.3	-	4	482	c.446G>A	c.(445-447)gGc>gAc	p.G149D	ECI2_ENST00000361538.2_Missense_Mutation_p.G119D|C6orf201_ENST00000380175.4_Intron|C6orf201_ENST00000333388.5_Intron|ECI2_ENST00000380125.2_Missense_Mutation_p.G119D|ECI2_ENST00000465828.1_Missense_Mutation_p.G119D|ECI2_ENST00000413766.2_5'UTR			O75521	ECI2_HUMAN	enoyl-CoA delta isomerase 2	149					fatty acid catabolic process (GO:0009062)	intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	dodecenoyl-CoA delta-isomerase activity (GO:0004165)|fatty-acyl-CoA binding (GO:0000062)|receptor binding (GO:0005102)			endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)	11						CTTTGTGATGCCATCTTCGGA	0.453																																						ENST00000465828.1																			0				endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)	11						c.(355-357)gGc>gAc		enoyl-CoA delta isomerase 2							199	172	181					6																	4130661		2203	4300	6503	SO:0001583	missense	10455				fatty acid metabolic process	mitochondrion|peroxisomal matrix	dodecenoyl-CoA delta-isomerase activity|fatty-acyl-CoA binding	g.chr6:4130661C>T	AF069301	CCDS4490.1, CCDS43420.1, CCDS43420.2	6p24.3	2011-03-15	2011-03-15	2011-03-15	ENSG00000198721	ENSG00000198721			14601	protein-coding gene	gene with protein product	"acyl-Coenzyme A binding domain containing 2", " Hepatocellular carcinoma-associated antigen 88"	608024	"peroxisomal D3,D2-enoyl-CoA isomerase"	PECI		10419495	Standard	NM_206836		Approved	ACBD2, DRS1, HCA88	uc003mwf.3	O75521	OTTHUMG00000014158	ENST00000380118.3:c.446G>A	6.37:g.4130661C>T	ENSP00000369461:p.Gly149Asp					ECI2_ENST00000361538.2_Missense_Mutation_p.G119D|C6orf201_ENST00000333388.5_Intron|ECI2_ENST00000380125.2_Missense_Mutation_p.G119D|ECI2_ENST00000413766.2_5'UTR|C6orf201_ENST00000380175.4_Intron|ECI2_ENST00000380118.3_Missense_Mutation_p.G149D	p.G119D			O75521	ECI2_HUMAN			4	641	-			149	S -> C (in Ref. 2; CAB66577).		ACB.		Q5JYK5|Q5JYK7|Q7L124|Q8N0X0|Q9BUE9|Q9H0T9|Q9NQH1|Q9NYH7|Q9UN55	Missense_Mutation	SNP	ENST00000380118.3	37	c.356G>A	CCDS43420.2	.	.	.	.	.	.	.	.	.	.	C	15.76	2.927206	0.52759	.	.	ENSG00000198721	ENST00000380118;ENST00000380125;ENST00000361538;ENST00000465828;ENST00000495548	T;T;T;T;T	0.51817	0.72;0.72;0.72;0.72;0.69	5.95	3.93	0.45458	.	0.361176	0.32987	N	0.005419	T	0.41673	0.1169	M	0.93550	3.43	0.80722	D	1	B	0.32101	0.356	B	0.34138	0.176	T	0.53927	-0.8369	10	0.48119	T	0.1	.	5.5525	0.17099	0.0:0.6753:0.0:0.3247	.	149	O75521	ECI2_HUMAN	D	149;119;119;119;196	ENSP00000369461:G149D;ENSP00000369468:G119D;ENSP00000354737:G119D;ENSP00000420309:G119D;ENSP00000417459:G196D	ENSP00000354737:G119D	G	-	2	0	ECI2	4075660	0.481000	0.25941	0.960000	0.40013	0.895000	0.52256	0.747000	0.26290	1.502000	0.48669	0.655000	0.94253	GGC		0.453	ECI2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039716.4	NM_006117		21	45	0	0	0	1	0	21	45					T	4130661	C	T	4130661	3	4	435	1	0	0	0	0	1	0	0	0	11716	739	26	3	766	3	PECI	6	4130661	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	60640	4130661	166984406	3014	23939											
CDYL	9425	broad.mit.edu	37	chr6	4937830	4937830	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtccagagtgctctgagcaCggccgctgccgatgacagca	9	6	13	13	3	1	3	0	2	1	1	2	4	2	3	3	1	4	4	3	1	0	0	rs148330526		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:4937830C>T	ENST00000328908.5	+	6	1273	c.1142C>T	c.(1141-1143)aCg>aTg	p.T381M	CDYL_ENST00000343762.5_Missense_Mutation_p.T195M|CDYL_ENST00000472453.1_3'UTR|CDYL_ENST00000449732.2_Missense_Mutation_p.T195M|CDYL_ENST00000397588.3_Missense_Mutation_p.T327M			Q9Y232	CDYL1_HUMAN	chromodomain protein, Y-like	381					regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	histone acetyltransferase activity (GO:0004402)|methylated histone binding (GO:0035064)|transcription corepressor activity (GO:0003714)			breast(2)|kidney(2)|large_intestine(9)|lung(13)|skin(1)|stomach(2)|urinary_tract(1)	30	Ovarian(93;0.11)	all_hematologic(90;0.0901)|Lung NSC(90;0.244)		OV - Ovarian serous cystadenocarcinoma(45;0.182)		GCTCTGAGCACGGCCGCTGCC	0.428																																						ENST00000328908.5																			0				breast(2)|kidney(2)|large_intestine(9)|lung(13)|skin(1)|stomach(2)|urinary_tract(1)	30						c.(1141-1143)aCg>aTg		chromodomain protein, Y-like		C	MET/THR,MET/THR,MET/THR	0,4406		0,0,2203	57	56	57		584,584,980	5.7	0.9	6	dbSNP_134	57	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	CDYL	NM_001143970.1,NM_001143971.1,NM_004824.3	81,81,81	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging,possibly-damaging	195/413,195/413,327/545	4937830	1,13005	2203	4300	6503	SO:0001583	missense	9425				regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	nucleus	histone acetyltransferase activity	g.chr6:4937830C>T	AF081258	CCDS4491.2, CCDS47364.1	6p25.1	2010-05-04	2003-09-12		ENSG00000153046	ENSG00000153046			1811	protein-coding gene	gene with protein product	"CDY-like, autosomal", "testis-specific chromodomain Y-like protein"	603778	"chromodomain protein, Y chromosome-like"			10192397	Standard	NM_001143970		Approved	DKFZP586C1622, CDYL1	uc003mwj.3	Q9Y232	OTTHUMG00000014170	ENST00000328908.5:c.1142C>T	6.37:g.4937830C>T	ENSP00000330512:p.Thr381Met					CDYL_ENST00000343762.5_Missense_Mutation_p.T195M|CDYL_ENST00000472453.1_3'UTR|CDYL_ENST00000449732.2_Missense_Mutation_p.T195M|CDYL_ENST00000397588.3_Missense_Mutation_p.T327M	p.T381M			Q9Y232	CDYL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(45;0.182)	6	1273	+	Ovarian(93;0.11)	all_hematologic(90;0.0901)|Lung NSC(90;0.244)	381					A8K6D6|B4DLG4|Q0VDG7|Q32NC5|Q5VX99|Q6P7T5|Q9BWZ2|Q9Y424	Missense_Mutation	SNP	ENST00000328908.5	37	c.1142C>T		.	.	.	.	.	.	.	.	.	.	C	16.22	3.061031	0.55432	0.0	1.16E-4	ENSG00000153046	ENST00000328908;ENST00000440139;ENST00000397588;ENST00000449732;ENST00000343762	T;T;T;T;T	0.68331	-0.32;-0.32;-0.32;-0.32;-0.32	5.67	5.67	0.87782	Crotonase, core (1);	0.000000	0.85682	D	0.000000	T	0.70020	0.3176	L	0.44542	1.39	0.80722	D	1	D;D	0.76494	0.998;0.999	P;P	0.60345	0.8;0.873	T	0.70691	-0.4802	10	0.59425	D	0.04	.	19.1082	0.93305	0.0:1.0:0.0:0.0	.	327;381	Q9Y232-2;Q9Y232	.;CDYL1_HUMAN	M	381;107;327;195;195	ENSP00000330512:T381M;ENSP00000394740:T107M;ENSP00000380718:T327M;ENSP00000394076:T195M;ENSP00000340908:T195M	ENSP00000330512:T381M	T	+	2	0	CDYL	4882829	1.000000	0.71417	0.911000	0.35937	0.211000	0.24417	5.714000	0.68422	2.832000	0.97577	0.585000	0.79938	ACG		0.428	CDYL-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000039736.1	NM_004824		7	11	0	0	0	1	0	7	11					T	4937830	C	T	4937830	3	4	435	1	0	0	0	0	1	0	0	0	3185	536	19	1	994	1	CDYL	6	4937830	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	807169	4937830	166177237	3015	23940											
RPP40	10799	broad.mit.edu	37	chr6	5004148	5004148	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agtgcgtctgcacaagatgcCggtggcgcgacttgtggttg	6	10	16	9	4	1	1	0	0	1	1	1	2	1	1	1	3	3	2	1	3	1	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:5004148C>T	ENST00000380051.2	-	1	133	c.89G>A	c.(88-90)cGg>cAg	p.R30Q	RPP40_ENST00000319533.5_Missense_Mutation_p.R30Q|RPP40_ENST00000464646.1_5'Flank	NM_006638.2	NP_006629.2	O75818	RPP40_HUMAN	ribonuclease P/MRP 40kDa subunit	30					RNA phosphodiester bond hydrolysis (GO:0090501)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|tRNA processing (GO:0008033)	nucleolar ribonuclease P complex (GO:0005655)|nucleus (GO:0005634)	ribonuclease P activity (GO:0004526)			NS(1)|breast(1)|large_intestine(4)|lung(4)|ovary(1)|skin(2)|urinary_tract(1)	14	Ovarian(93;0.11)	all_hematologic(90;0.0895)				CACAAGATGCCGGTGGCGCGA	0.627											OREG0017160	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000380051.2																			0				NS(1)|breast(1)|large_intestine(4)|lung(4)|ovary(1)|skin(2)|urinary_tract(1)	14						c.(88-90)cGg>cAg		ribonuclease P/MRP 40kDa subunit							66	53	58					6																	5004148		2203	4300	6503	SO:0001583	missense	10799				tRNA processing	nucleolar ribonuclease P complex	protein binding|ribonuclease P activity	g.chr6:5004148C>T	U94317	CCDS34333.1, CCDS69040.1, CCDS75391.1	6p25.1	2012-05-21	2007-06-26	2004-03-19	ENSG00000124787	ENSG00000124787			20992	protein-coding gene	gene with protein product		606117	"ribonuclease P1", "ribonuclease P 40kDa subunit"	RNASEP1		9630247	Standard	NM_006638		Approved	bA428J1.3	uc003mwl.3	O75818	OTTHUMG00000014168	ENST00000380051.2:c.89G>A	6.37:g.5004148C>T	ENSP00000369391:p.Arg30Gln		OREG0017160	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	623	RPP40_ENST00000319533.5_Missense_Mutation_p.R30Q	p.R30Q	NM_006638.2	NP_006629.2	O75818	RPP40_HUMAN			1	133	-	Ovarian(93;0.11)	all_hematologic(90;0.0895)	30					Q5VX97|Q8WVK8	Missense_Mutation	SNP	ENST00000380051.2	37	c.89G>A	CCDS34333.1	.	.	.	.	.	.	.	.	.	.	C	7.682	0.689189	0.14973	.	.	ENSG00000124787	ENST00000380051;ENST00000319533	T;T	0.43294	0.95;0.95	4.5	0.657	0.17850	.	0.971136	0.08474	N	0.940595	T	0.11495	0.0280	L	0.40543	1.245	0.80722	D	1	B;B	0.29432	0.012;0.244	B;B	0.15052	0.003;0.012	T	0.36890	-0.9729	10	0.19147	T	0.46	-6.4018	5.176	0.15135	0.0:0.4982:0.1434:0.3584	.	30;30	O75818-2;O75818	.;RPP40_HUMAN	Q	30	ENSP00000369391:R30Q;ENSP00000317998:R30Q	ENSP00000317998:R30Q	R	-	2	0	RPP40	4949147	0.995000	0.38212	0.957000	0.39632	0.010000	0.07245	0.341000	0.19909	-0.070000	0.12908	-0.384000	0.06662	CGG		0.627	RPP40-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039733.2	NM_006638		3	7	0	0	0	1	0	3	7					T	5004148	C	T	5004148	3	4	435	1	0	0	0	0	1	0	0	0	13614	652	23	2	1034	2	RPP40	6	5004148	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	66318	5004148	166110919	3016	23941											
F13A1	2162	broad.mit.edu	37	chr6	6197473	6197473	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	taccatcgctattttcctggGgggtgctgtccacagcttgc	5	13	11	12	1	0	0	0	0	0	0	3	0	2	0	3	3	4	3	3	3	2	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:6197473G>A	ENST00000264870.3	-	9	1464	c.1199C>T	c.(1198-1200)cCc>cTc	p.P400L		NM_000129.3	NP_000120.2	P00488	F13A_HUMAN	coagulation factor XIII, A1 polypeptide	400					blood coagulation (GO:0007596)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|platelet alpha granule lumen (GO:0031093)	metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	62	Ovarian(93;0.0816)	all_hematologic(90;0.152)			L-Glutamine(DB00130)	ATTTTCCTGGGGGGTGCTGTC	0.473																																						ENST00000264870.3																			0				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	62						c.(1198-1200)cCc>cTc		coagulation factor XIII, A1 polypeptide	L-Glutamine(DB00130)						86	81	83					6																	6197473		2203	4300	6503	SO:0001583	missense	2162				peptide cross-linking|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity	g.chr6:6197473G>A	M14539	CCDS4496.1	6p24.2-p23	2014-01-24			ENSG00000124491	ENSG00000124491		"Transglutaminases"	3531	protein-coding gene	gene with protein product		134570		F13A			Standard	NM_000129		Approved		uc003mwv.3	P00488	OTTHUMG00000014186	ENST00000264870.3:c.1199C>T	6.37:g.6197473G>A	ENSP00000264870:p.Pro400Leu						p.P400L	NM_000129.3	NP_000120.2	P00488	F13A_HUMAN			9	1464	-	Ovarian(93;0.0816)	all_hematologic(90;0.152)	400					Q59HA7|Q8N6X2|Q96P24|Q9BX29	Missense_Mutation	SNP	ENST00000264870.3	37	c.1199C>T	CCDS4496.1	.	.	.	.	.	.	.	.	.	.	G	27.0	4.794862	0.90453	.	.	ENSG00000124491	ENST00000264870;ENST00000441301	D	0.96651	-4.08	5.47	5.47	0.80525	Transglutaminase-like (1);	0.000000	0.85682	D	0.000000	D	0.97945	0.9324	M	0.79343	2.45	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.98781	1.0732	10	0.87932	D	0	.	18.3262	0.90255	0.0:0.0:1.0:0.0	.	337;400	F5H080;P00488	.;F13A_HUMAN	L	400;337	ENSP00000264870:P400L	ENSP00000264870:P400L	P	-	2	0	F13A1	6142472	1.000000	0.71417	0.999000	0.59377	0.991000	0.79684	9.247000	0.95444	2.558000	0.86282	0.655000	0.94253	CCC		0.473	F13A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039756.3	NM_000129		3	37	0	0	0	1	0	3	37					A	6197473	G	A	6197473	3	1	435	1	0	0	0	0	1	0	0	0	5340	1232	43	3	1027	3	F13A1	6	6197473	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	1193325	6197473	164917594	3017	23942											
F13A1	2162	broad.mit.edu	37	chr6	6266854	6266854	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtttcgactggttcgaagtaCgccatagggagtccagacag	10	9	13	9	3	0	1	0	0	0	1	3	4	1	2	2	2	1	3	2	2	3	4	rs140712764		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:6266854C>T	ENST00000264870.3	-	4	773	c.508G>A	c.(508-510)Gta>Ata	p.V170I		NM_000129.3	NP_000120.2	P00488	F13A_HUMAN	coagulation factor XIII, A1 polypeptide	170					blood coagulation (GO:0007596)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|platelet alpha granule lumen (GO:0031093)	metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	62	Ovarian(93;0.0816)	all_hematologic(90;0.152)			L-Glutamine(DB00130)	GTTCGAAGTACGCCATAGGGA	0.458													C|||	1	0.000199681	8e-04	0	5008	,	,		20884	0		0	False		,,,				2504	0					ENST00000264870.3																			0				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	62						c.(508-510)Gta>Ata		coagulation factor XIII, A1 polypeptide	L-Glutamine(DB00130)	C	ILE/VAL	4,4402	8.1+/-20.4	0,4,2199	139	125	129		508	0.3	0	6	dbSNP_134	129	0,8600		0,0,4300	yes	missense	F13A1	NM_000129.3	29	0,4,6499	TT,TC,CC		0.0,0.0908,0.0308	benign	170/733	6266854	4,13002	2203	4300	6503	SO:0001583	missense	2162				peptide cross-linking|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity	g.chr6:6266854C>T	M14539	CCDS4496.1	6p24.2-p23	2014-01-24			ENSG00000124491	ENSG00000124491		"Transglutaminases"	3531	protein-coding gene	gene with protein product		134570		F13A			Standard	NM_000129		Approved		uc003mwv.3	P00488	OTTHUMG00000014186	ENST00000264870.3:c.508G>A	6.37:g.6266854C>T	ENSP00000264870:p.Val170Ile						p.V170I	NM_000129.3	NP_000120.2	P00488	F13A_HUMAN			4	773	-	Ovarian(93;0.0816)	all_hematologic(90;0.152)	170					Q59HA7|Q8N6X2|Q96P24|Q9BX29	Missense_Mutation	SNP	ENST00000264870.3	37	c.508G>A	CCDS4496.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	9.337	1.062075	0.19987	9.08E-4	0.0	ENSG00000124491	ENST00000264870;ENST00000441301	D	0.86097	-2.07	5.65	0.339	0.15979	Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.273237	0.40222	N	0.001147	T	0.35278	0.0926	N	0.00677	-1.265	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.08055	0.003;0.001	T	0.49370	-0.8947	10	0.36615	T	0.2	.	9.267	0.37647	0.0:0.2791:0.0:0.7209	.	107;170	F5H080;P00488	.;F13A_HUMAN	I	170;107	ENSP00000264870:V170I	ENSP00000264870:V170I	V	-	1	0	F13A1	6211853	1.000000	0.71417	0.001000	0.08648	0.223000	0.24884	0.747000	0.26290	-0.152000	0.11156	-0.238000	0.12139	GTA		0.458	F13A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039756.3	NM_000129		13	91	0	0	0	1	0	13	91					T	6266854	C	T	6266854	3	4	435	1	0	0	0	0	1	0	0	0	5340	536	19	1	1738	1	F13A1	6	6266854	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	69381	6266854	164848213	3018	23943											
F13A1	2162	broad.mit.edu	37	chr6	6305756	6305756	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tccttgaacaggtgaacgctCgtgacattaagaaactctat	13	11	8	9	2	1	4	0	3	1	1	3	4	2	4	1	1	3	1	1	1	5	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:6305756C>T	ENST00000264870.3	-	3	412	c.147G>A	c.(145-147)acG>acA	p.T49T		NM_000129.3	NP_000120.2	P00488	F13A_HUMAN	coagulation factor XIII, A1 polypeptide	49					blood coagulation (GO:0007596)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|platelet alpha granule lumen (GO:0031093)	metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	62	Ovarian(93;0.0816)	all_hematologic(90;0.152)			L-Glutamine(DB00130)	GGTGAACGCTCGTGACATTAA	0.383																																						ENST00000264870.3																			0				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	62						c.(145-147)acG>acA		coagulation factor XIII, A1 polypeptide	L-Glutamine(DB00130)						152	128	136					6																	6305756		2203	4300	6503	SO:0001819	synonymous_variant	2162				peptide cross-linking|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity	g.chr6:6305756C>T	M14539	CCDS4496.1	6p24.2-p23	2014-01-24			ENSG00000124491	ENSG00000124491		"Transglutaminases"	3531	protein-coding gene	gene with protein product		134570		F13A			Standard	NM_000129		Approved		uc003mwv.3	P00488	OTTHUMG00000014186	ENST00000264870.3:c.147G>A	6.37:g.6305756C>T							p.T49T	NM_000129.3	NP_000120.2	P00488	F13A_HUMAN			3	412	-	Ovarian(93;0.0816)	all_hematologic(90;0.152)	49					Q59HA7|Q8N6X2|Q96P24|Q9BX29	Silent	SNP	ENST00000264870.3	37	c.147G>A	CCDS4496.1	.	.	.	.	.	.	.	.	.	.	C	0.093	-1.163480	0.01673	.	.	ENSG00000124491	ENST00000451619	.	.	.	5.48	-6.2	0.02072	.	.	.	.	.	T	0.14356	0.0347	.	.	.	0.25235	N	0.989799	.	.	.	.	.	.	T	0.29610	-1.0006	4	.	.	.	.	11.3711	0.49699	0.0:0.1706:0.1021:0.7272	.	.	.	.	Q	74	.	.	R	-	2	0	F13A1	6250755	0.000000	0.05858	0.002000	0.10522	0.107000	0.19398	-1.178000	0.03093	-1.108000	0.03000	-0.225000	0.12378	CGA		0.383	F13A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039756.3	NM_000129		20	34	0	0	0	1	0	20	34					T	6305756	C	T	6305756	2	4	435	1	0	0	0	0	0	0	0	1	5340	871	31	2		2	F13A1	6	6305756	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	38902	6305756	164809311	3019	23944											
RREB1	6239	broad.mit.edu	37	chr6	7229303	7229303	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcgacacctgtgacaaggCgttccccatgctctgctcac	7	9	9	16	2	2	1	1	1	1	0	3	2	3	1	3	1	3	3	3	1	1	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:7229303C>T	ENST00000349384.6	+	10	1285	c.971C>T	c.(970-972)gCg>gTg	p.A324V	RREB1_ENST00000334984.6_Missense_Mutation_p.A324V|RREB1_ENST00000379938.2_Missense_Mutation_p.A324V|RREB1_ENST00000379933.3_Missense_Mutation_p.A324V	NM_001003698.3	NP_001003698.1	Q92766	RREB1_HUMAN	ras responsive element binding protein 1	324					multicellular organismal development (GO:0007275)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|Ras protein signal transduction (GO:0007265)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear body (GO:0016604)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)				TGTGACAAGGCGTTCCCCATG	0.592																																						ENST00000379938.2																			0				breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						c.(970-972)gCg>gTg		ras responsive element binding protein 1							73	59	64					6																	7229303		2203	4300	6503	SO:0001583	missense	6239				multicellular organismal development|positive regulation of transcription, DNA-dependent|Ras protein signal transduction|transcription from RNA polymerase II promoter	cytoplasm|nuclear speck	DNA binding|zinc ion binding	g.chr6:7229303C>T	U26914	CCDS34335.1, CCDS34336.1, CCDS54963.1	6p25	2013-01-08			ENSG00000124782	ENSG00000124782		"Zinc fingers, C2H2-type"	10449	protein-coding gene	gene with protein product	"hindsight homolog (drosophila)"	602209				9367691, 18394891	Standard	NM_001003698		Approved	HNT	uc003mxb.3	Q92766	OTTHUMG00000014201	ENST00000349384.6:c.971C>T	6.37:g.7229303C>T	ENSP00000305560:p.Ala324Val					RREB1_ENST00000379933.3_Missense_Mutation_p.A324V|RREB1_ENST00000349384.6_Missense_Mutation_p.A324V|RREB1_ENST00000334984.6_Missense_Mutation_p.A324V	p.A324V	NM_001003699.3|NM_001003700.1	NP_001003699.1|NP_001003700.1	Q92766	RREB1_HUMAN			10	1508	+	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)	324					A2RRF5|E2GM80|E2GM81|O75567|O75568|Q5VYB2|Q6BEP5|Q6BEP6|Q6BEP8|Q86SU2|Q9Y474	Missense_Mutation	SNP	ENST00000349384.6	37	c.971C>T	CCDS34336.1	.	.	.	.	.	.	.	.	.	.	C	19.46	3.831485	0.71258	.	.	ENSG00000124782	ENST00000379933;ENST00000379938;ENST00000349384;ENST00000334984;ENST00000483150	T;T;T;T;T	0.60797	0.16;0.16;0.16;0.16;0.16	5.71	5.71	0.89125	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);	0.000000	0.53938	D	0.000057	T	0.73877	0.3643	M	0.76002	2.32	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.83275	0.996;0.99;0.99	T	0.75241	-0.3387	10	0.66056	D	0.02	-33.4798	19.8586	0.96775	0.0:1.0:0.0:0.0	.	324;324;324	Q92766-3;Q92766;Q92766-2	.;RREB1_HUMAN;.	V	324	ENSP00000369265:A324V;ENSP00000369270:A324V;ENSP00000305560:A324V;ENSP00000335574:A324V;ENSP00000419511:A324V	ENSP00000335574:A324V	A	+	2	0	RREB1	7174302	1.000000	0.71417	0.973000	0.42090	0.630000	0.37929	5.873000	0.69644	2.701000	0.92244	0.462000	0.41574	GCG		0.592	RREB1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000352985.1			14	17	0	0	0	1	0	14	17					T	7229303	C	T	7229303	3	4	435	1	0	0	0	0	1	0	0	0	13679	768	27	1	997	1	RREB1	6	7229303	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	923547	7229303	163885764	3020	23945											
RREB1	6239	broad.mit.edu	37	chr6	7230078	7230078	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggctctccctgcagcagccGcgggcggagctgccgggcca	4	4	16	17	5	1	0	0	0	1	0	2	1	1	1	4	4	5	4	4	4	0	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:7230078G>A	ENST00000349384.6	+	10	2060	c.1746G>A	c.(1744-1746)ccG>ccA	p.P582P	RREB1_ENST00000334984.6_Silent_p.P582P|RREB1_ENST00000379938.2_Silent_p.P582P|RREB1_ENST00000379933.3_Silent_p.P582P	NM_001003698.3	NP_001003698.1	Q92766	RREB1_HUMAN	ras responsive element binding protein 1	582					multicellular organismal development (GO:0007275)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|Ras protein signal transduction (GO:0007265)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear body (GO:0016604)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)				TGCAGCAGCCGCGGGCGGAGC	0.687																																						ENST00000379938.2																			0				breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						c.(1744-1746)ccG>ccA		ras responsive element binding protein 1							8	10	9					6																	7230078		1864	3740	5604	SO:0001819	synonymous_variant	6239				multicellular organismal development|positive regulation of transcription, DNA-dependent|Ras protein signal transduction|transcription from RNA polymerase II promoter	cytoplasm|nuclear speck	DNA binding|zinc ion binding	g.chr6:7230078G>A	U26914	CCDS34335.1, CCDS34336.1, CCDS54963.1	6p25	2013-01-08			ENSG00000124782	ENSG00000124782		"Zinc fingers, C2H2-type"	10449	protein-coding gene	gene with protein product	"hindsight homolog (drosophila)"	602209				9367691, 18394891	Standard	NM_001003698		Approved	HNT	uc003mxb.3	Q92766	OTTHUMG00000014201	ENST00000349384.6:c.1746G>A	6.37:g.7230078G>A						RREB1_ENST00000379933.3_Silent_p.P582P|RREB1_ENST00000349384.6_Silent_p.P582P|RREB1_ENST00000334984.6_Silent_p.P582P	p.P582P	NM_001003699.3|NM_001003700.1	NP_001003699.1|NP_001003700.1	Q92766	RREB1_HUMAN			10	2283	+	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)	582					A2RRF5|E2GM80|E2GM81|O75567|O75568|Q5VYB2|Q6BEP5|Q6BEP6|Q6BEP8|Q86SU2|Q9Y474	Silent	SNP	ENST00000349384.6	37	c.1746G>A	CCDS34336.1																																																																																				0.687	RREB1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000352985.1			5	7	0	0	0	1	0	5	7					A	7230078	G	A	7230078	2	1	435	1	0	0	0	0	0	0	0	1	13679	1074	38	1		1	RREB1	6	7230078	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	775	7230078	163884989	3021	23946											
CAGE1	285782	broad.mit.edu	37	chr6	7373783	7373783	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tgttgcatttcagtcatgtaCctttcctgtaaacacacata	11	15	5	10	0	2	0	2	0	0	0	3	0	3	0	2	0	3	4	2	0	4	6			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:7373783C>T	ENST00000512086.1	-	5	1471	c.1269G>A	c.(1267-1269)agG>agA	p.R423R	CAGE1_ENST00000509324.1_5'Flank|CAGE1_ENST00000296742.7_Silent_p.R287R|CAGE1_ENST00000379918.4_Silent_p.R423R|CAGE1_ENST00000502583.1_Silent_p.R423R|CAGE1_ENST00000338150.4_Silent_p.R423R			Q8TC20	CAGE1_HUMAN	cancer antigen 1	423										breast(1)|cervix(1)|endometrium(3)|kidney(2)|lung(11)|urinary_tract(1)	19	Ovarian(93;0.0418)					CAGTCATGTACCTTTCCTGTA	0.348																																						ENST00000502583.1																			0				breast(1)|cervix(1)|endometrium(3)|kidney(2)|lung(11)|urinary_tract(1)	19						c.(1267-1269)agG>agA		cancer antigen 1							112	99	103					6																	7373783		1863	4098	5961	SO:0001819	synonymous_variant	285782							g.chr6:7373783C>T	BC026194	CCDS47367.1, CCDS54964.1, CCDS54965.1	6p24.3	2009-08-06	2005-01-26	2005-01-27	ENSG00000164304	ENSG00000164304			21622	protein-coding gene	gene with protein product	"cancer/testis antigen 95"	608304	"cancer/testis antigen 3"	CTAG3		12531476	Standard	NM_205864		Approved	bA69L16.7, CT95	uc003mxl.2	Q8TC20	OTTHUMG00000014200	ENST00000512086.1:c.1269G>A	6.37:g.7373783C>T						CAGE1_ENST00000296742.7_Silent_p.R287R|CAGE1_ENST00000379918.4_Silent_p.R423R|CAGE1_ENST00000512086.1_Silent_p.R423R|CAGE1_ENST00000338150.4_Silent_p.R423R	p.R423R	NM_001170692.1	NP_001164163.1	Q8TC20	CAGE1_HUMAN			5	1833	-	Ovarian(93;0.0418)		423					D6RCT9|Q5TAM0|Q86TM4|Q8N7R5	Silent	SNP	ENST00000512086.1	37	c.1269G>A																																																																																					0.348	CAGE1-008	PUTATIVE	non_canonical_conserved|basic	protein_coding	protein_coding	OTTHUMT00000367136.1	NM_175745		7	22	0	0	0	1	0	7	22					T	7373783	C	T	7373783	2	4	435	1	0	0	0	0	0	0	0	1	2572	506	18	3		3	CAGE1	6	7373783	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	143705	7373783	163741284	3022	23947											
C6orf105	84830	broad.mit.edu	37	chr6	11714746	11714746	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgtggctgcctcatgtcacCtgtacaaacaagaacagaga	13	7	9	12	1	2	2	2	0	0	2	2	3	2	2	3	1	4	2	3	1	4	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:11714746C>A	ENST00000414691.3	-	6	1069		c.e6-1		ADTRP_ENST00000229583.5_Splice_Site|ADTRP_ENST00000514824.1_Splice_Site	NM_032744.3	NP_116133.1	Q96IZ2	ADTRP_HUMAN	androgen-dependent TFPI-regulating protein							integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)											CTCATGTCACCTGTACAAACA	0.423																																						ENST00000414691.3																			0											c.e6-1		androgen-dependent TFPI-regulating protein							142	135	138					6																	11714746		2203	4300	6503	SO:0001630	splice_region_variant	84830					integral to membrane		g.chr6:11714746C>A	AJ420520	CCDS4521.1, CCDS47374.1	6p24.1	2012-01-30	2012-01-27	2012-01-27	ENSG00000111863	ENSG00000111863			21214	protein-coding gene	gene with protein product	"androgen-induced 1-like"	614348	"chromosome 6 open reading frame 105"	C6orf105		21868574	Standard	NM_032744		Approved	dJ413H6.1, AIG1L	uc011dip.2	Q96IZ2	OTTHUMG00000014260	ENST00000414691.3:c.659-1G>T	6.37:g.11714746C>A						ADTRP_ENST00000229583.5_Splice_Site|ADTRP_ENST00000514824.1_Splice_Site		NM_032744.3	NP_116133.1	Q96IZ2	CF105_HUMAN			6	1069	-								B2R7T9|B4DV39|Q5THW1	Splice_Site	SNP	ENST00000414691.3	37		CCDS4521.1	.	.	.	.	.	.	.	.	.	.	C	20.1	3.938452	0.73557	.	.	ENSG00000111863	ENST00000414691;ENST00000229583	.	.	.	5.85	5.85	0.93711	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.0378	0.80642	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	C6orf105	11822732	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	3.383000	0.52471	2.941000	0.99782	0.655000	0.94253	.		0.423	ADTRP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039864.3	NM_032744	Intron	35	31	1	0	1.47197e-15	1	1.61186e-15	35	31					A	11714746	C	A	11714746	5	1	435	1	0	0	0	0	0	0	1	0	2318	695	24	5	38	5	C6orf105	6	11714746	Splice_Site	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	4340963	11714746	159400321	3023	23948											
C6orf105	84830	broad.mit.edu	37	chr6	11768593	11768593	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	acatcatccaggcaggtgacCccgtagaaaatggtctgcaa	13	7	10	11	1	2	2	1	1	1	1	3	2	3	2	3	3	1	3	3	3	4	1	rs531232448	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:11768593C>T	ENST00000414691.3	-	2	587	c.177G>A	c.(175-177)ggG>ggA	p.G59G	ADTRP_ENST00000229583.5_Silent_p.G77G|ADTRP_ENST00000379413.2_Silent_p.G59G	NM_032744.3	NP_116133.1	Q96IZ2	ADTRP_HUMAN	androgen-dependent TFPI-regulating protein	59						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)											GGCAGGTGACCCCGTAGAAAA	0.418																																						ENST00000414691.3																			0											c.(175-177)ggG>ggA		androgen-dependent TFPI-regulating protein							177	162	167					6																	11768593		2203	4300	6503	SO:0001819	synonymous_variant	84830					integral to membrane		g.chr6:11768593C>T	AJ420520	CCDS4521.1, CCDS47374.1	6p24.1	2012-01-30	2012-01-27	2012-01-27	ENSG00000111863	ENSG00000111863			21214	protein-coding gene	gene with protein product	"androgen-induced 1-like"	614348	"chromosome 6 open reading frame 105"	C6orf105		21868574	Standard	NM_032744		Approved	dJ413H6.1, AIG1L	uc011dip.2	Q96IZ2	OTTHUMG00000014260	ENST00000414691.3:c.177G>A	6.37:g.11768593C>T						ADTRP_ENST00000379413.2_Silent_p.G59G|ADTRP_ENST00000229583.5_Silent_p.G77G	p.G59G	NM_032744.3	NP_116133.1	Q96IZ2	CF105_HUMAN			2	587	-			59					B2R7T9|B4DV39|Q5THW1	Silent	SNP	ENST00000414691.3	37	c.177G>A	CCDS4521.1																																																																																				0.418	ADTRP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039864.3	NM_032744		35	69	0	0	0	1	0	35	69					T	11768593	C	T	11768593	2	4	435	1	0	0	0	0	0	0	0	1	2318	610	22	3		3	C6orf105	6	11768593	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	53847	11768593	159346474	3024	23949											
HIVEP1	3096	broad.mit.edu	37	chr6	12125469	12125469	+	Frame_Shift_Del	DEL	A	A	-																															cctggacggtgtgatgttggAaaaggatgttttttctcaac																										TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:12125469delA	ENST00000379388.2	+	4	5773	c.5441delA	c.(5440-5442)gaafs	p.E1814fs	HIVEP1_ENST00000541134.1_5'Flank	NM_002114.2	NP_002105.2	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer binding protein 1	1814					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				GTGATGTTGGAAAAGGATGTT	0.383																																						ENST00000379388.2																			0				NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90						c.(5440-5442)gafs		human immunodeficiency virus type I enhancer binding protein 1							176	161	165					6																	12125469		1839	4088	5927	SO:0001589	frameshift_variant	3096				transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding	g.chr6:12125469delA	J05011	CCDS43426.1	6p24-p22.3	2012-10-05	2001-11-28		ENSG00000095951	ENSG00000095951		"Zinc fingers, C2H2-type"	4920	protein-coding gene	gene with protein product		194540	"human immunodeficiency virus type I enhancer-binding protein 1", "zinc finger protein 40"	ZNF40		2037300	Standard	XR_241895		Approved	CIRIP, MBP-1, CRYBP1, PRDII-BF1, ZAS1, Schnurri-1, ZNF40A	uc003nac.3	P15822	OTTHUMG00000014265	ENST00000379388.2:c.5441delA	6.37:g.12125469delA	ENSP00000368698:p.Glu1814fs						p.E1814fs	NM_002114.2	NP_002105.2	P15822	ZEP1_HUMAN			4	5773	+	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)	1814					B2RTU3|Q14122|Q5MPB1|Q5VW60	Frame_Shift_Del	DEL	ENST00000379388.2	37	c.5441delA	CCDS43426.1																																																																																				0.383	HIVEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039870.2	NM_002114		22	125						22	125	---	---	---	---	-	12125469	A	-	12125469	7	5	435	1	0	1	0	1	0	0	0	0	7186	246	9	0	5451	0	HIVEP1	6	12125469	Frame_Shift_Del	DEL	A	TCGA-XK-AAIW-01A-11D-A41K-08	356876	12125469	158989598	3025	23950											
RANBP9	10048	broad.mit.edu	37	chr6	13644886	13644886	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atagtcttctatatcaaacaCgaaaggatgttgcccaaaat	16	11	6	8	1	3	0	1	0	2	0	3	2	3	1	1	1	2	1	1	1	7	5	rs78716684	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:13644886C>T	ENST00000011619.3	-	6	1061	c.1003G>A	c.(1003-1005)Gtg>Atg	p.V335M	RANBP9_ENST00000539980.1_Missense_Mutation_p.V106M	NM_005493.2	NP_005484.2	Q96S59	RANB9_HUMAN	RAN binding protein 9	335					axon guidance (GO:0007411)|microtubule nucleation (GO:0007020)|protein complex assembly (GO:0006461)	cytosol (GO:0005829)|microtubule associated complex (GO:0005875)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|Ran GTPase binding (GO:0008536)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|skin(1)	16	Breast(50;0.00669)|Ovarian(93;0.0634)	all_hematologic(90;0.117)	Epithelial(50;0.223)			ATATCAAACACGAAAGGATGT	0.428													C|||	3	0.000599042	0.0023	0	5008	,	,		15159	0		0	False		,,,				2504	0					ENST00000011619.3																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|skin(1)	16						c.(1003-1005)Gtg>Atg		RAN binding protein 9		C	MET/VAL	8,4398	14.3+/-33.2	0,8,2195	124	115	118		1003	4.3	1	6	dbSNP_131	118	0,8600		0,0,4300	yes	missense	RANBP9	NM_005493.2	21	0,8,6495	TT,TC,CC		0.0,0.1816,0.0615	possibly-damaging	335/730	13644886	8,12998	2203	4300	6503	SO:0001583	missense	10048				axon guidance|microtubule nucleation|protein complex assembly	cytosol|microtubule associated complex|nucleus	Ran GTPase binding	g.chr6:13644886C>T	AB008515	CCDS4529.1	6p23	2010-05-25			ENSG00000010017	ENSG00000010017			13727	protein-coding gene	gene with protein product	"Ran Binding Protein in the Microtubule organizing center"	603854				9817760	Standard	NM_005493		Approved	RanBPM	uc003nbb.3	Q96S59	OTTHUMG00000015642	ENST00000011619.3:c.1003G>A	6.37:g.13644886C>T	ENSP00000011619:p.Val335Met					RANBP9_ENST00000539980.1_Missense_Mutation_p.V106M	p.V335M	NM_005493.2	NP_005484.2	Q96S59	RANB9_HUMAN	Epithelial(50;0.223)		6	1061	-	Breast(50;0.00669)|Ovarian(93;0.0634)	all_hematologic(90;0.117)	335					A0PJA2|B2R8E1|O94764|Q6P3T7|Q7LBR2|Q7Z7F9	Missense_Mutation	SNP	ENST00000011619.3	37	c.1003G>A	CCDS4529.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	16.84	3.233466	0.58886	0.001816	0.0	ENSG00000010017	ENST00000011619;ENST00000539980	T;T	0.61158	0.13;0.13	5.17	4.27	0.50696	Concanavalin A-like lectin/glucanase (1);	0.055575	0.64402	D	0.000001	T	0.49609	0.1567	L	0.50333	1.59	0.58432	D	0.999994	D	0.63880	0.993	P	0.50934	0.654	T	0.52305	-0.8593	10	0.44086	T	0.13	-12.6945	15.0482	0.71844	0.1434:0.8566:0.0:0.0	.	335	Q96S59	RANB9_HUMAN	M	335;106	ENSP00000011619:V335M;ENSP00000438162:V106M	ENSP00000011619:V335M	V	-	1	0	RANBP9	13752865	1.000000	0.71417	0.991000	0.47740	0.954000	0.61252	7.776000	0.85560	1.243000	0.43853	0.557000	0.71058	GTG		0.428	RANBP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042373.1			41	66	0	0	0	1	0	41	66					T	13644886	C	T	13644886	3	4	435	1	0	0	0	0	1	0	0	0	13032	536	19	1	1222	1	RANBP9	6	13644886	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	1519417	13644886	157470181	3026	23951											
JARID2	3720	broad.mit.edu	37	chr6	15496663	15496663	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtccaagtccactgggcccGccgtcaatggcctcaaggtc	7	7	11	16	3	2	0	2	0	0	0	5	0	4	0	5	3	0	0	5	3	3	0	rs142358716	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:15496663G>A	ENST00000341776.2	+	7	1451	c.1207G>A	c.(1207-1209)Gcc>Acc	p.A403T	JARID2_ENST00000541660.1_Missense_Mutation_p.A365T|JARID2_ENST00000397311.3_Missense_Mutation_p.A231T	NM_004973.3	NP_004964.2	Q92833	JARD2_HUMAN	jumonji, AT rich interactive domain 2	403					central nervous system development (GO:0007417)|chromatin modification (GO:0016568)|liver development (GO:0001889)|negative regulation of cell proliferation (GO:0008285)|negative regulation of histone methylation (GO:0031061)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of histone H3-K9 methylation (GO:0051574)|spleen development (GO:0048536)|stem cell differentiation (GO:0048863)|thymus development (GO:0048538)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	59	Breast(50;0.0142)|Ovarian(93;0.103)	all_hematologic(90;0.00612)				CACTGGGCCCGCCGTCAATGG	0.612													G|||	2	0.000399361	8e-04	0.0014	5008	,	,		15429	0		0	False		,,,				2504	0					ENST00000341776.2																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	59						c.(1207-1209)Gcc>Acc		jumonji, AT rich interactive domain 2		G	THR/ALA	2,4404	4.2+/-10.8	0,2,2201	50	60	57		1207	3	1	6	dbSNP_134	57	0,8600		0,0,4300	yes	missense	JARID2	NM_004973.2	58	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	benign	403/1247	15496663	2,13004	2203	4300	6503	SO:0001583	missense	3720				central nervous system development|chromatin modification|negative regulation of histone methylation|positive regulation of histone H3-K9 methylation|stem cell differentiation|transcription, DNA-dependent		chromatin binding	g.chr6:15496663G>A	U57592	CCDS4533.1, CCDS58996.1	6p24-p23	2008-02-05	2006-10-06	2004-01-30	ENSG00000008083	ENSG00000008083			6196	protein-coding gene	gene with protein product		601594	"jumonji (mouse) homolog", "Jumonji, AT rich interactive domain 2"	JMJ		8894700	Standard	NM_001267040		Approved		uc003nbj.4	Q92833	OTTHUMG00000014293	ENST00000341776.2:c.1207G>A	6.37:g.15496663G>A	ENSP00000341280:p.Ala403Thr					JARID2_ENST00000397311.3_Missense_Mutation_p.A231T|JARID2_ENST00000541660.1_Missense_Mutation_p.A365T	p.A403T	NM_004973.3	NP_004964.2	Q92833	JARD2_HUMAN			7	1451	+	Breast(50;0.0142)|Ovarian(93;0.103)	all_hematologic(90;0.00612)	403					A8K9Z6|B7Z5S5|B7Z8L0|Q5U5L5|Q86X63	Missense_Mutation	SNP	ENST00000341776.2	37	c.1207G>A	CCDS4533.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	16.34	3.096697	0.56075	4.54E-4	0.0	ENSG00000008083	ENST00000538175;ENST00000341776;ENST00000397311;ENST00000541660	T;T;T	0.37752	1.18;1.18;1.18	4.9	3.03	0.35002	.	0.408810	0.27581	N	0.018728	T	0.08403	0.0209	N	0.19112	0.55	0.33039	D	0.531191	B;P;B	0.48998	0.017;0.918;0.002	B;B;B	0.33799	0.003;0.17;0.001	T	0.09058	-1.0692	10	0.38643	T	0.18	-5.4969	10.5919	0.45314	0.0732:0.1319:0.7949:0.0	.	365;267;403	F5H590;B7Z7X9;Q92833	.;.;JARD2_HUMAN	T	267;403;231;365	ENSP00000341280:A403T;ENSP00000380478:A231T;ENSP00000444623:A365T	ENSP00000341280:A403T	A	+	1	0	JARID2	15604642	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.170000	0.50816	1.280000	0.44463	0.655000	0.94253	GCC		0.612	JARID2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000039926.1	NM_004973		24	28	0	0	0	1	0	24	28					A	15496663	G	A	15496663	3	1	435	1	0	0	0	0	1	0	0	0	7945	1087	38	1	1233	1	JARID2	6	15496663	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	1851777	15496663	155618404	3027	23952											
JARID2	3720	broad.mit.edu	37	chr6	15497052	15497052	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tctacctcgcaaccggagtcCgtgcacaagccgcaggactc	9	6	10	16	4	1	0	0	0	1	0	4	2	2	2	4	2	4	3	4	2	3	1	rs569790839		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:15497052C>T	ENST00000341776.2	+	7	1840	c.1596C>T	c.(1594-1596)tcC>tcT	p.S532S	JARID2_ENST00000541660.1_Silent_p.S494S|JARID2_ENST00000397311.3_Silent_p.S360S	NM_004973.3	NP_004964.2	Q92833	JARD2_HUMAN	jumonji, AT rich interactive domain 2	532					central nervous system development (GO:0007417)|chromatin modification (GO:0016568)|liver development (GO:0001889)|negative regulation of cell proliferation (GO:0008285)|negative regulation of histone methylation (GO:0031061)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of histone H3-K9 methylation (GO:0051574)|spleen development (GO:0048536)|stem cell differentiation (GO:0048863)|thymus development (GO:0048538)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	59	Breast(50;0.0142)|Ovarian(93;0.103)	all_hematologic(90;0.00612)				AACCGGAGTCCGTGCACAAGC	0.687													C|||	1	0.000199681	0	0	5008	,	,		13417	0.001		0	False		,,,				2504	0					ENST00000341776.2																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	59						c.(1594-1596)tcC>tcT		jumonji, AT rich interactive domain 2							21	24	23					6																	15497052		2203	4298	6501	SO:0001819	synonymous_variant	3720				central nervous system development|chromatin modification|negative regulation of histone methylation|positive regulation of histone H3-K9 methylation|stem cell differentiation|transcription, DNA-dependent		chromatin binding	g.chr6:15497052C>T	U57592	CCDS4533.1, CCDS58996.1	6p24-p23	2008-02-05	2006-10-06	2004-01-30	ENSG00000008083	ENSG00000008083			6196	protein-coding gene	gene with protein product		601594	"jumonji (mouse) homolog", "Jumonji, AT rich interactive domain 2"	JMJ		8894700	Standard	NM_001267040		Approved		uc003nbj.4	Q92833	OTTHUMG00000014293	ENST00000341776.2:c.1596C>T	6.37:g.15497052C>T						JARID2_ENST00000397311.3_Silent_p.S360S|JARID2_ENST00000541660.1_Silent_p.S494S	p.S532S	NM_004973.3	NP_004964.2	Q92833	JARD2_HUMAN			7	1840	+	Breast(50;0.0142)|Ovarian(93;0.103)	all_hematologic(90;0.00612)	532					A8K9Z6|B7Z5S5|B7Z8L0|Q5U5L5|Q86X63	Silent	SNP	ENST00000341776.2	37	c.1596C>T	CCDS4533.1																																																																																				0.687	JARID2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000039926.1	NM_004973		5	9	0	0	0	1	0	5	9					T	15497052	C	T	15497052	2	4	435	1	0	0	0	0	0	0	0	1	7945	639	23	2		2	JARID2	6	15497052	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	389	15497052	155618015	3028	23953											
JARID2	3720	broad.mit.edu	37	chr6	15512454	15512454	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cccagatctccccggaggtgCtgtgcaaagaggggatcaag	10	6	14	11	1	2	2	1	0	1	2	3	4	2	4	3	4	2	2	3	4	2	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:15512454C>T	ENST00000341776.2	+	14	3212	c.2968C>T	c.(2968-2970)Ctg>Ttg	p.L990L	JARID2_ENST00000397311.3_Silent_p.L818L	NM_004973.3	NP_004964.2	Q92833	JARD2_HUMAN	jumonji, AT rich interactive domain 2	990	JmjC. {ECO:0000255|PROSITE- ProRule:PRU00538}.				central nervous system development (GO:0007417)|chromatin modification (GO:0016568)|liver development (GO:0001889)|negative regulation of cell proliferation (GO:0008285)|negative regulation of histone methylation (GO:0031061)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of histone H3-K9 methylation (GO:0051574)|spleen development (GO:0048536)|stem cell differentiation (GO:0048863)|thymus development (GO:0048538)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	59	Breast(50;0.0142)|Ovarian(93;0.103)	all_hematologic(90;0.00612)				CCCGGAGGTGCTGTGCAAAGA	0.607																																						ENST00000341776.2																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	59						c.(2968-2970)Ctg>Ttg		jumonji, AT rich interactive domain 2							119	93	102					6																	15512454		2203	4300	6503	SO:0001819	synonymous_variant	3720				central nervous system development|chromatin modification|negative regulation of histone methylation|positive regulation of histone H3-K9 methylation|stem cell differentiation|transcription, DNA-dependent		chromatin binding	g.chr6:15512454C>T	U57592	CCDS4533.1, CCDS58996.1	6p24-p23	2008-02-05	2006-10-06	2004-01-30	ENSG00000008083	ENSG00000008083			6196	protein-coding gene	gene with protein product		601594	"jumonji (mouse) homolog", "Jumonji, AT rich interactive domain 2"	JMJ		8894700	Standard	NM_001267040		Approved		uc003nbj.4	Q92833	OTTHUMG00000014293	ENST00000341776.2:c.2968C>T	6.37:g.15512454C>T						JARID2_ENST00000397311.3_Silent_p.L818L	p.L990L	NM_004973.3	NP_004964.2	Q92833	JARD2_HUMAN			14	3212	+	Breast(50;0.0142)|Ovarian(93;0.103)	all_hematologic(90;0.00612)	990			JmjC.		A8K9Z6|B7Z5S5|B7Z8L0|Q5U5L5|Q86X63	Silent	SNP	ENST00000341776.2	37	c.2968C>T	CCDS4533.1																																																																																				0.607	JARID2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000039926.1	NM_004973		8	13	0	0	0	1	0	8	13					T	15512454	C	T	15512454	2	4	435	1	0	0	0	0	0	0	0	1	7945	796	28	3		3	JARID2	6	15512454	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	15402	15512454	155602613	3029	23954											
DTNBP1	84062	broad.mit.edu	37	chr6	15638018	15638018	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggctcttctgtgaagtgcaGcccatgtatcctcataccta	8	13	8	12	0	3	1	1	1	2	0	4	1	4	1	3	1	3	3	3	1	4	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:15638018G>A	ENST00000344537.5	-	4	351	c.179C>T	c.(178-180)gCt>gTt	p.A60V	DTNBP1_ENST00000338950.5_Missense_Mutation_p.A60V|DTNBP1_ENST00000355917.3_Missense_Mutation_p.A60V	NM_032122.4	NP_115498.2	Q96EV8	DTBP1_HUMAN	dystrobrevin binding protein 1	60					actin cytoskeleton reorganization (GO:0031532)|anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|blood coagulation (GO:0007596)|melanosome organization (GO:0032438)|membrane organization (GO:0061024)|neuron projection development (GO:0031175)|neuron projection morphogenesis (GO:0048812)|platelet dense granule organization (GO:0060155)|positive regulation of gene expression (GO:0010628)|positive regulation of neurotransmitter secretion (GO:0001956)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of dopamine receptor signaling pathway (GO:0060159)|regulation of dopamine secretion (GO:0014059)	axon (GO:0030424)|BLOC-1 complex (GO:0031083)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|endoplasmic reticulum membrane (GO:0005789)|endosome (GO:0005768)|growth cone (GO:0030426)|neuron projection (GO:0043005)|nucleus (GO:0005634)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)|synaptic vesicle membrane (GO:0030672)				cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|skin(2)	14	Breast(50;0.0289)|Ovarian(93;0.103)	all_hematologic(90;0.0895)	Epithelial(50;0.211)			GTGAAGTGCAGCCCATGTATC	0.358									Hermansky-Pudlak syndrome																													ENST00000338950.5																			0				cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|skin(2)	14						c.(178-180)gCt>gTt		dystrobrevin binding protein 1							106	103	104					6																	15638018		2203	4300	6503	SO:0001583	missense	84062	Hermansky-Pudlak syndrome	Familial Cancer Database	HPS, HPS1-8	actin cytoskeleton reorganization|cellular membrane organization|neuron projection morphogenesis|post-Golgi vesicle-mediated transport|regulation of dopamine receptor signaling pathway	axon part|BLOC-1 complex|cell junction|dendritic spine|endoplasmic reticulum membrane|endosome membrane|growth cone|melanosome membrane|nucleus|postsynaptic density|postsynaptic membrane|sarcolemma|synaptic vesicle membrane|synaptosome	identical protein binding	g.chr6:15638018G>A	AF394226	CCDS4534.1, CCDS4535.1, CCDS75404.1, CCDS75405.1	6p22.3	2013-09-27			ENSG00000047579	ENSG00000047579		"Biogenesis of lysosomal organelles complex-1 subunits"	17328	protein-coding gene	gene with protein product	"dysbindin-1", "biogenesis of lysosomal organelles complex-1, subunit 8"	607145				11316798	Standard	NM_032122		Approved	Dysbindin, My031, HPS7, DBND, BLOC1S8	uc003nbm.3	Q96EV8	OTTHUMG00000014295	ENST00000344537.5:c.179C>T	6.37:g.15638018G>A	ENSP00000341680:p.Ala60Val					DTNBP1_ENST00000355917.3_Missense_Mutation_p.A60V|DTNBP1_ENST00000344537.5_Missense_Mutation_p.A60V	p.A60V	NM_183040.2	NP_898861.1	Q96EV8	DTBP1_HUMAN	Epithelial(50;0.211)		4	284	-	Breast(50;0.0289)|Ovarian(93;0.103)	all_hematologic(90;0.0895)	60					A8K3V3|Q5THY3|Q5THY4|Q96NV2|Q9H0U2|Q9H3J5	Missense_Mutation	SNP	ENST00000344537.5	37	c.179C>T	CCDS4534.1	.	.	.	.	.	.	.	.	.	.	G	7.365	0.625640	0.14257	.	.	ENSG00000047579	ENST00000344537;ENST00000355917;ENST00000511762;ENST00000338950;ENST00000543749	T;T;T	0.30714	1.55;1.55;1.52	5.26	5.26	0.73747	.	0.000000	0.52532	D	0.000062	T	0.21921	0.0528	L	0.28192	0.835	0.46279	D	0.998966	B;B;D	0.69078	0.126;0.075;0.997	B;B;D	0.65010	0.039;0.039;0.931	T	0.03051	-1.1078	10	0.02654	T	1	.	15.7726	0.78184	0.0:0.0:1.0:0.0	.	60;60;60	F5GY46;Q96EV8-2;Q96EV8	.;.;DTBP1_HUMAN	V	60;60;25;60;60	ENSP00000341680:A60V;ENSP00000348183:A60V;ENSP00000344718:A60V	ENSP00000344718:A60V	A	-	2	0	DTNBP1	15745997	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	3.353000	0.52247	2.465000	0.83290	0.455000	0.32223	GCT		0.358	DTNBP1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000039933.2	NM_032122		25	39	0	0	0	1	0	25	39					A	15638018	G	A	15638018	3	1	435	1	0	0	0	0	1	0	0	0	4790	971	34	3	1005	3	DTNBP1	6	15638018	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	125564	15638018	155477049	3030	23955											
GMPR	2766	broad.mit.edu	37	chr6	16254845	16254845	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgatctggaaaagatgaccaGcatcctggaagctgtgccac	12	8	11	10	0	1	3	0	2	1	1	2	5	2	5	3	2	3	2	3	2	3	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:16254845G>A	ENST00000259727.4	+	4	458	c.344G>A	c.(343-345)aGc>aAc	p.S115N		NM_006877.3	NP_006868.3	P36959	GMPR1_HUMAN	guanosine monophosphate reductase	115					nucleobase-containing small molecule metabolic process (GO:0055086)|nucleotide metabolic process (GO:0009117)|purine nucleobase metabolic process (GO:0006144)|purine-containing compound salvage (GO:0043101)|response to cold (GO:0009409)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|GMP reductase complex (GO:1902560)	GMP reductase activity (GO:0003920)|metal ion binding (GO:0046872)			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)	20	Breast(50;0.0427)|Ovarian(93;0.103)	all_hematologic(90;0.0895)				AAGATGACCAGCATCCTGGAA	0.448																																						ENST00000259727.4																			0				NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)	20						c.(343-345)aGc>aAc		guanosine monophosphate reductase							213	201	205					6																	16254845		2203	4300	6503	SO:0001583	missense	2766				nucleotide metabolic process|purine base metabolic process|purine-containing compound salvage|response to cold	cytosol	GMP reductase activity|metal ion binding	g.chr6:16254845G>A		CCDS4537.1	6p23	2009-07-10			ENSG00000137198	ENSG00000137198	1.7.1.7		4376	protein-coding gene	gene with protein product		139265				2194676	Standard	NM_006877		Approved		uc003nbs.3	P36959	OTTHUMG00000014302	ENST00000259727.4:c.344G>A	6.37:g.16254845G>A	ENSP00000259727:p.Ser115Asn						p.S115N	NM_006877.3	NP_006868.3	P36959	GMPR1_HUMAN			4	458	+	Breast(50;0.0427)|Ovarian(93;0.103)	all_hematologic(90;0.0895)	115					Q96HQ6	Missense_Mutation	SNP	ENST00000259727.4	37	c.344G>A	CCDS4537.1	.	.	.	.	.	.	.	.	.	.	G	12.45	1.941369	0.34283	.	.	ENSG00000137198	ENST00000259727	T	0.78481	-1.18	5.65	2.91	0.33838	Aldolase-type TIM barrel (1);IMP dehydrogenase/GMP reductase (1);	0.455245	0.29192	N	0.012872	T	0.41119	0.1145	N	0.17564	0.495	0.45515	D	0.998478	B	0.02656	0.0	B	0.04013	0.001	T	0.26087	-1.0113	10	0.38643	T	0.18	-7.7709	6.648	0.22947	0.2024:0.0:0.6705:0.127	.	115	P36959	GMPR1_HUMAN	N	115	ENSP00000259727:S115N	ENSP00000259727:S115N	S	+	2	0	GMPR	16362824	1.000000	0.71417	0.951000	0.38953	0.559000	0.35586	1.444000	0.35068	0.320000	0.23234	0.655000	0.94253	AGC		0.448	GMPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039942.2			15	83	0	0	0	1	0	15	83					A	16254845	G	A	16254845	3	1	435	1	0	0	0	0	1	0	0	0	6496	971	34	3	358	3	GMPR	6	16254845	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	616827	16254845	154860222	3031	23956											
ATXN1	6310	broad.mit.edu	37	chr6	16328510	16328510	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcgcttcttgggaggcaggCattcgttgctccgctcttgg	3	12	14	12	4	2	0	0	0	2	0	4	1	3	1	1	4	1	6	1	4	0	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:16328510C>T	ENST00000244769.4	-	8	968	c.32G>A	c.(31-33)tGc>tAc	p.C11Y	ATXN1_ENST00000436367.1_Missense_Mutation_p.C11Y	NM_000332.3	NP_000323.2	P54253	ATX1_HUMAN	ataxin 1	11					adult locomotory behavior (GO:0008344)|cell death (GO:0008219)|negative regulation of insulin-like growth factor receptor signaling pathway (GO:0043569)|negative regulation of phosphorylation (GO:0042326)|negative regulation of transcription, DNA-templated (GO:0045892)|nuclear export (GO:0051168)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|RNA processing (GO:0006396)|transcription, DNA-templated (GO:0006351)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear inclusion body (GO:0042405)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|poly(G) binding (GO:0034046)|poly(U) RNA binding (GO:0008266)|protein C-terminus binding (GO:0008022)|protein self-association (GO:0043621)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|lung(12)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)	44	Breast(50;0.063)|Ovarian(93;0.0733)	all_hematologic(90;0.000682)|Ovarian(999;0.00973)				GGGAGGCAGGCATTCGTTGCT	0.597																																						ENST00000244769.4																			0				NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|lung(12)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)	44						c.(31-33)tGc>tAc		ataxin 1							39	39	39					6																	16328510		2202	4296	6498	SO:0001583	missense	6310				cell death|negative regulation of transcription, DNA-dependent|nuclear export|RNA processing	cytoplasm|nuclear inclusion body|nuclear matrix|nucleoplasm	identical protein binding|poly(G) RNA binding|poly(U) RNA binding|protein binding|protein C-terminus binding|protein self-association	g.chr6:16328510C>T	X79204	CCDS34342.1	6p23	2014-09-17	2004-08-12	2004-08-13	ENSG00000124788	ENSG00000124788		"Ataxins"	10548	protein-coding gene	gene with protein product		601556	"spinocerebellar ataxia 1 (olivopontocerebellar ataxia 1, autosomal dominant, ataxin 1)"	SCA1		1582256	Standard	NM_000332		Approved	D6S504E, ATX1	uc010jpi.3	P54253	OTTHUMG00000014303	ENST00000244769.4:c.32G>A	6.37:g.16328510C>T	ENSP00000244769:p.Cys11Tyr					ATXN1_ENST00000436367.1_Missense_Mutation_p.C11Y	p.C11Y	NM_000332.3	NP_000323.2	P54253	ATX1_HUMAN			8	968	-	Breast(50;0.063)|Ovarian(93;0.0733)	all_hematologic(90;0.000682)|Ovarian(999;0.00973)	11					Q17S02|Q9UJG2|Q9Y4J1	Missense_Mutation	SNP	ENST00000244769.4	37	c.32G>A	CCDS34342.1	.	.	.	.	.	.	.	.	.	.	C	24.0	4.481262	0.84747	.	.	ENSG00000124788	ENST00000244769;ENST00000450222;ENST00000436367	T;T	0.48836	0.8;0.8	5.14	5.14	0.70334	.	0.045934	0.85682	D	0.000000	T	0.60248	0.2254	M	0.71036	2.16	0.80722	D	1	D	0.64830	0.994	P	0.60173	0.87	T	0.64402	-0.6416	10	0.87932	D	0	-21.5884	18.7977	0.92001	0.0:1.0:0.0:0.0	.	11	P54253	ATX1_HUMAN	Y	11	ENSP00000244769:C11Y;ENSP00000416360:C11Y	ENSP00000244769:C11Y	C	-	2	0	ATXN1	16436489	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.213000	0.77950	2.666000	0.90696	0.561000	0.74099	TGC		0.597	ATXN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039943.3	NM_000332		10	13	0	0	0	1	0	10	13					T	16328510	C	T	16328510	3	4	435	1	0	0	0	0	1	0	0	0	1209	710	25	3	2423	3	ATXN1	6	16328510	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	73665	16328510	154786557	3032	23957											
NUP153	9972	broad.mit.edu	37	chr6	17662249	17662249	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtataagaaatgacagtacCtttctcgttgttctctattt	10	18	6	7	1	2	2	0	1	2	1	4	2	2	2	1	0	1	4	1	0	5	8			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:17662249C>A	ENST00000262077.2	-	10	1267	c.1268G>T	c.(1267-1269)aGt>aTt	p.S423I	NUP153_ENST00000537253.1_Splice_Site_p.S423I	NM_005124.2	NP_005115.2	P49790	NU153_HUMAN	nucleoporin 153kDa	423					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|negative regulation of RNA export from nucleus (GO:0046832)|nuclear pore complex assembly (GO:0051292)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral entry into host cell (GO:0046718)|viral penetration into host nucleus (GO:0075732)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|nucleocytoplasmic transporter activity (GO:0005487)|protein anchor (GO:0043495)|structural constituent of nuclear pore (GO:0017056)|transporter activity (GO:0005215)|zinc ion binding (GO:0008270)			NS(2)|breast(6)|endometrium(4)|kidney(3)|large_intestine(7)|lung(23)|ovary(3)|skin(3)|urinary_tract(2)	53	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.125)	all cancers(50;0.0981)|Epithelial(50;0.112)			ATGACAGTACCTTTCTCGTTG	0.303																																						ENST00000262077.2																			0				NS(2)|breast(6)|endometrium(4)|kidney(3)|large_intestine(7)|lung(23)|ovary(3)|skin(3)|urinary_tract(2)	53						c.e10+1		nucleoporin 153kDa							229	233	232					6																	17662249		2203	4300	6503	SO:0001630	splice_region_variant	9972				carbohydrate metabolic process|glucose transport|interspecies interaction between organisms|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytoplasm|nuclear membrane|nuclear pore|nucleolus|nucleoplasm	DNA binding|protein binding|transporter activity|zinc ion binding	g.chr6:17662249C>A	Z25535	CCDS4541.1, CCDS64359.1, CCDS75407.1	6p22.3	2008-07-29	2002-08-29		ENSG00000124789	ENSG00000124789			8062	protein-coding gene	gene with protein product		603948	"nucleoporin 153kD"			8110839	Standard	NM_001278209		Approved	HNUP153	uc003ncd.2	P49790	OTTHUMG00000014312	ENST00000262077.2:c.1268+1G>T	6.37:g.17662249C>A						NUP153_ENST00000537253.1_Splice_Site_p.S423_splice	p.S423_splice	NM_005124.2	NP_005115.2	P49790	NU153_HUMAN	all cancers(50;0.0981)|Epithelial(50;0.112)		10	1267	-	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.125)	423					B4DIK2|E7EPX5|F6QR24|Q4LE47|Q5T9I7|Q7Z743	Splice_Site	SNP	ENST00000262077.2	37	c.1268_splice	CCDS4541.1	.	.	.	.	.	.	.	.	.	.	C	13.90	2.373949	0.42105	.	.	ENSG00000124789	ENST00000262077;ENST00000430136;ENST00000537253	T;T	0.10668	3.02;2.85	5.49	5.49	0.81192	Nucleoporin, Nup153-like (1);	0.000000	0.64402	D	0.000014	T	0.23846	0.0577	M	0.72894	2.215	0.58432	D	0.999999	B;B;D	0.76494	0.16;0.099;0.999	B;B;D	0.87578	0.075;0.038;0.998	T	0.00202	-1.1925	9	.	.	.	-17.2186	15.2298	0.73378	0.0:1.0:0.0:0.0	.	423;445;423	F6QR24;Q4LE47;P49790	.;.;NU153_HUMAN	I	423;445;423	ENSP00000262077:S423I;ENSP00000444029:S423I	.	S	-	2	0	NUP153	17770228	1.000000	0.71417	1.000000	0.80357	0.500000	0.33767	3.727000	0.54984	2.740000	0.93945	0.563000	0.77884	AGT		0.303	NUP153-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039953.1		Missense_Mutation	31	47	1	0	2.08457e-15	1	2.28171e-15	31	47					A	17662249	C	A	17662249	5	1	435	1	0	0	0	0	0	0	1	0	10755	695	24	5	3211	5	NUP153	6	17662249	Splice_Site	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	1333739	17662249	153452818	3033	23958											
KIF13A	63971	broad.mit.edu	37	chr6	17837806	17837806	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atataaccaaccccaaggttGtaagcgatctgtcaagaaaa	17	8	7	9	1	2	1	1	0	1	1	2	2	2	1	3	1	3	2	3	1	8	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:17837806G>A	ENST00000259711.6	-	10	944	c.839C>T	c.(838-840)aCa>aTa	p.T280I	KIF13A_ENST00000378816.5_Missense_Mutation_p.T280I|KIF13A_ENST00000378843.2_Missense_Mutation_p.T280I|KIF13A_ENST00000378826.2_Missense_Mutation_p.T280I|KIF13A_ENST00000378814.5_Missense_Mutation_p.T280I	NM_022113.5	NP_071396.4	Q9H1H9	KI13A_HUMAN	kinesin family member 13A	280	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|cargo loading into vesicle (GO:0035459)|cytokinesis (GO:0000910)|endosome to lysosome transport (GO:0008333)|Golgi to plasma membrane protein transport (GO:0043001)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|plus-end-directed vesicle transport along microtubule (GO:0072383)	centrosome (GO:0005813)|endosome membrane (GO:0010008)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|midbody (GO:0030496)|trans-Golgi network membrane (GO:0032588)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	64	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	all cancers(50;0.0865)|Epithelial(50;0.0974)			CCCCAAGGTTGTAAGCGATCT	0.373																																						ENST00000378814.5																			0				breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	64						c.(838-840)aCa>aTa		kinesin family member 13A							60	51	53					6																	17837806		1852	4083	5935	SO:0001583	missense	63971				cargo loading into vesicle|cell cycle|cytokinesis|endosome to lysosome transport|Golgi to plasma membrane protein transport|melanosome organization|plus-end-directed vesicle transport along microtubule	centrosome|endosome membrane|microtubule|midbody|trans-Golgi network membrane	ATP binding|microtubule motor activity|protein binding	g.chr6:17837806G>A	AJ291578	CCDS47380.1, CCDS47381.1, CCDS54967.1, CCDS54968.1, CCDS58998.1	6p23	2008-10-21			ENSG00000137177	ENSG00000137177		"Kinesins"	14566	protein-coding gene	gene with protein product		605433				11106728	Standard	NM_022113		Approved	bA500C11.2	uc003ncg.4	Q9H1H9	OTTHUMG00000014313	ENST00000259711.6:c.839C>T	6.37:g.17837806G>A	ENSP00000259711:p.Thr280Ile					KIF13A_ENST00000378843.2_Missense_Mutation_p.T280I|KIF13A_ENST00000378826.2_Missense_Mutation_p.T280I|KIF13A_ENST00000378816.5_Missense_Mutation_p.T280I|KIF13A_ENST00000259711.6_Missense_Mutation_p.T280I	p.T280I	NM_001105568.2	NP_001099038.1	Q9H1H9	KI13A_HUMAN	all cancers(50;0.0865)|Epithelial(50;0.0974)		10	838	-	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	280					A0JP21|A0JP22|F2Z382|Q5THQ2|Q5THQ3|Q9H193|Q9H194|Q9H1H8	Missense_Mutation	SNP	ENST00000259711.6	37	c.839C>T	CCDS47381.1	.	.	.	.	.	.	.	.	.	.	G	23.6	4.433536	0.83776	.	.	ENSG00000137177	ENST00000378814;ENST00000259711;ENST00000378826;ENST00000378843;ENST00000378816	T;T;T;T;T	0.74632	-0.86;-0.86;-0.86;-0.86;-0.86	5.64	5.64	0.86602	Kinesin, motor domain (3);	0.117930	0.56097	D	0.000030	D	0.88533	0.6462	M	0.92317	3.295	0.58432	D	0.999999	D;D;D;D	0.65815	0.995;0.979;0.977;0.985	P;P;D;P	0.66602	0.897;0.653;0.945;0.552	D	0.90201	0.4257	10	0.87932	D	0	.	20.0585	0.97663	0.0:0.0:1.0:0.0	.	280;280;280;280	Q9H1H9-4;Q9H1H9-2;Q9H1H9;Q9H1H9-3	.;.;KI13A_HUMAN;.	I	280	ENSP00000368091:T280I;ENSP00000259711:T280I;ENSP00000368103:T280I;ENSP00000368120:T280I;ENSP00000368093:T280I	ENSP00000259711:T280I	T	-	2	0	KIF13A	17945785	1.000000	0.71417	1.000000	0.80357	0.851000	0.48451	7.895000	0.87343	2.812000	0.96745	0.557000	0.71058	ACA		0.373	KIF13A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000039954.4			6	8	0	0	0	1	0	6	8					A	17837806	G	A	17837806	3	1	435	1	0	0	0	0	1	0	0	0	8274	1377	48	3	4723	3	KIF13A	6	17837806	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	175557	17837806	153277261	3034	23959											
KIF13A	63971	broad.mit.edu	37	chr6	17856298	17856298	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaatacacgcattatacccCtgaaaggctttttcaagaat	16	11	5	9	1	1	2	1	1	0	1	1	2	1	2	2	1	2	2	2	1	8	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:17856298C>A	ENST00000259711.6	-	5	381	c.276G>T	c.(274-276)caG>caT	p.Q92H	KIF13A_ENST00000378816.5_Missense_Mutation_p.Q92H|KIF13A_ENST00000378843.2_Missense_Mutation_p.Q92H|KIF13A_ENST00000378826.2_Missense_Mutation_p.Q92H|KIF13A_ENST00000378814.5_Missense_Mutation_p.Q92H	NM_022113.5	NP_071396.4	Q9H1H9	KI13A_HUMAN	kinesin family member 13A	92	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|cargo loading into vesicle (GO:0035459)|cytokinesis (GO:0000910)|endosome to lysosome transport (GO:0008333)|Golgi to plasma membrane protein transport (GO:0043001)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|plus-end-directed vesicle transport along microtubule (GO:0072383)	centrosome (GO:0005813)|endosome membrane (GO:0010008)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|midbody (GO:0030496)|trans-Golgi network membrane (GO:0032588)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	64	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	all cancers(50;0.0865)|Epithelial(50;0.0974)			CATTATACCCCTGAAAGGCTT	0.363																																						ENST00000378814.5																			0				breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	64						c.(274-276)caG>caT		kinesin family member 13A							78	74	75					6																	17856298		1823	4088	5911	SO:0001583	missense	63971				cargo loading into vesicle|cell cycle|cytokinesis|endosome to lysosome transport|Golgi to plasma membrane protein transport|melanosome organization|plus-end-directed vesicle transport along microtubule	centrosome|endosome membrane|microtubule|midbody|trans-Golgi network membrane	ATP binding|microtubule motor activity|protein binding	g.chr6:17856298C>A	AJ291578	CCDS47380.1, CCDS47381.1, CCDS54967.1, CCDS54968.1, CCDS58998.1	6p23	2008-10-21			ENSG00000137177	ENSG00000137177		"Kinesins"	14566	protein-coding gene	gene with protein product		605433				11106728	Standard	NM_022113		Approved	bA500C11.2	uc003ncg.4	Q9H1H9	OTTHUMG00000014313	ENST00000259711.6:c.276G>T	6.37:g.17856298C>A	ENSP00000259711:p.Gln92His					KIF13A_ENST00000378843.2_Missense_Mutation_p.Q92H|KIF13A_ENST00000378826.2_Missense_Mutation_p.Q92H|KIF13A_ENST00000378816.5_Missense_Mutation_p.Q92H|KIF13A_ENST00000259711.6_Missense_Mutation_p.Q92H	p.Q92H	NM_001105568.2	NP_001099038.1	Q9H1H9	KI13A_HUMAN	all cancers(50;0.0865)|Epithelial(50;0.0974)		5	275	-	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	92			Kinesin-motor.		A0JP21|A0JP22|F2Z382|Q5THQ2|Q5THQ3|Q9H193|Q9H194|Q9H1H8	Missense_Mutation	SNP	ENST00000259711.6	37	c.276G>T	CCDS47381.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.309547	0.81247	.	.	ENSG00000137177	ENST00000378814;ENST00000259711;ENST00000378826;ENST00000378843;ENST00000378816	T;T;T;T;T	0.75367	-0.93;-0.93;-0.93;-0.93;-0.93	5.87	4.11	0.48088	Kinesin, motor domain (4);	0.000000	0.85682	D	0.000000	T	0.77691	0.4168	L	0.58810	1.83	0.58432	D	0.999999	D;D;D;D	0.71674	0.998;0.998;0.994;0.998	D;P;D;D	0.70227	0.956;0.904;0.968;0.935	T	0.80544	-0.1335	10	0.66056	D	0.02	.	13.2851	0.60239	0.0:0.8714:0.0:0.1286	.	92;92;92;92	Q9H1H9-4;Q9H1H9-2;Q9H1H9;Q9H1H9-3	.;.;KI13A_HUMAN;.	H	92	ENSP00000368091:Q92H;ENSP00000259711:Q92H;ENSP00000368103:Q92H;ENSP00000368120:Q92H;ENSP00000368093:Q92H	ENSP00000259711:Q92H	Q	-	3	2	KIF13A	17964277	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.865000	0.39479	0.956000	0.37904	-0.123000	0.14984	CAG		0.363	KIF13A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000039954.4			9	29	1	0	0.00448238	1	0.00453641	9	29					A	17856298	C	A	17856298	3	1	435	1	0	0	0	0	1	0	0	0	8274	680	24	5	5306	5	KIF13A	6	17856298	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	18492	17856298	153258769	3035	23960											
KDM1B	221656	broad.mit.edu	37	chr6	18212817	18212817	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaggctatcaacagcttaggCgcaggcatcattgaaaaggt	14	8	11	8	1	2	1	2	1	0	0	2	1	2	1	0	4	2	4	0	4	6	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:18212817C>T	ENST00000297792.5	+	14	1446	c.1269C>T	c.(1267-1269)ggC>ggT	p.G423G	KDM1B_ENST00000388870.2_Silent_p.G656G|KDM1B_ENST00000397244.1_Silent_p.G424G|KDM1B_ENST00000546309.2_Intron			Q8NB78	KDM1B_HUMAN	lysine (K)-specific demethylase 1B	655					DNA methylation involved in gamete generation (GO:0043046)|histone H3-K4 demethylation (GO:0034720)|multicellular organismal development (GO:0007275)|regulation of DNA methylation (GO:0044030)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|flavin adenine dinucleotide binding (GO:0050660)|histone demethylase activity (H3-dimethyl-K4 specific) (GO:0034648)|histone demethylase activity (H3-monomethyl-K4 specific) (GO:0034649)|oxidoreductase activity (GO:0016491)|zinc ion binding (GO:0008270)			breast(2)|endometrium(5)|large_intestine(6)|lung(8)|skin(3)|upper_aerodigestive_tract(1)	25						ACAGCTTAGGCGCAGGCATCA	0.413																																						ENST00000388870.2																			0				breast(2)|endometrium(5)|large_intestine(6)|lung(8)|skin(3)|upper_aerodigestive_tract(1)	25						c.(1966-1968)ggC>ggT		lysine (K)-specific demethylase 1B							180	157	164					6																	18212817		2203	4300	6503	SO:0001819	synonymous_variant	221656				multicellular organismal development|regulation of DNA methylation|regulation of gene expression by genetic imprinting|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-monomethyl-K4 specific)|oxidoreductase activity|zinc ion binding	g.chr6:18212817C>T	AK125318	CCDS34343.1	6p22.3	2011-07-01	2009-09-29	2009-09-29	ENSG00000165097	ENSG00000165097		"Chromatin-modifying enzymes / K-demethylases"	21577	protein-coding gene	gene with protein product		613081	"amine oxidase, flavin containing 1", "chromosome 6 open reading frame 193", "amine oxidase (flavin containing) domain 1"	C6orf193, AOF1		19407342, 19727073	Standard	NM_153042		Approved	FLJ34109, FLJ33898, dJ298J15.2, bA204B7.3, FLJ43328, LSD2	uc003ncn.1	Q8NB78	OTTHUMG00000014316	ENST00000297792.5:c.1269C>T	6.37:g.18212817C>T						KDM1B_ENST00000546309.2_Intron|KDM1B_ENST00000397244.1_Silent_p.G424G|KDM1B_ENST00000297792.5_Silent_p.G423G	p.G656G			Q8NB78	KDM1B_HUMAN			18	2209	+			655					A2A2C5|A2A2C6|Q5TGV3|Q6AI15|Q6ZUU4|Q8N258|Q96EL7	Silent	SNP	ENST00000297792.5	37	c.1968C>T	CCDS34343.1	.	.	.	.	.	.	.	.	.	.	C	7.342	0.621024	0.14193	.	.	ENSG00000165097	ENST00000449850	.	.	.	6.01	-12.0	0.00017	.	.	.	.	.	T	0.19725	0.0474	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.57365	-0.7824	4	.	.	.	-8.0814	5.142	0.14963	0.1477:0.0744:0.2758:0.502	.	.	.	.	V	473	.	.	A	+	2	0	KDM1B	18320796	0.000000	0.05858	0.012000	0.15200	0.934000	0.57294	-2.972000	0.00667	-4.442000	0.00049	-0.897000	0.02905	GCG		0.413	KDM1B-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000277080.1	NM_153042		17	76	0	0	0	1	0	17	76					T	18212817	C	T	18212817	2	4	435	1	0	0	0	0	0	0	0	1	8123	755	27	1		1	KDM1B	6	18212817	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	356519	18212817	152902250	3036	23961											
MBOAT1	154141	broad.mit.edu	37	chr6	20124743	20124743	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatggacaaaccagtcatccAcaaggcaggtgacaggaaag	16	5	11	9	0	1	1	1	1	0	0	2	3	2	3	2	4	1	1	2	4	4	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:20124743A>G	ENST00000324607.7	-	8	967	c.803T>C	c.(802-804)gTg>gCg	p.V268A	MBOAT1_ENST00000541730.1_Missense_Mutation_p.V119A	NM_001080480.1	NP_001073949.1	Q6ZNC8	MBOA1_HUMAN	membrane bound O-acyltransferase domain containing 1	268					glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	transferase activity, transferring acyl groups other than amino-acyl groups (GO:0016747)			breast(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(5)	20	all_cancers(95;0.244)|Breast(50;0.0379)|Ovarian(93;0.0473)|all_epithelial(95;0.109)		OV - Ovarian serous cystadenocarcinoma(7;0.00392)|all cancers(50;0.0117)|Epithelial(50;0.0454)			CCAGTCATCCACAAGGCAGGT	0.468																																						ENST00000541730.1																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(5)	20						c.(355-357)gTg>gCg		membrane bound O-acyltransferase domain containing 1							179	155	163					6																	20124743		2203	4300	6503	SO:0001583	missense	154141				phospholipid biosynthetic process	integral to membrane	acyltransferase activity	g.chr6:20124743A>G	AK093994	CCDS34346.1	6p22.3	2013-10-11	2006-06-29	2006-06-29	ENSG00000172197	ENSG00000172197			21579	protein-coding gene	gene with protein product	"lysophosphatidylethanolamine acyltransferase 1"	611732	"O-acyltransferase (membrane bound) domain containing 1"	OACT1		18287005	Standard	NM_001080480		Approved	MGC44669, dJ434O11.1, LPEAT1	uc003ncx.2	Q6ZNC8	OTTHUMG00000014334	ENST00000324607.7:c.803T>C	6.37:g.20124743A>G	ENSP00000324944:p.Val268Ala					MBOAT1_ENST00000324607.7_Missense_Mutation_p.V268A	p.V119A			Q6ZNC8	MBOA1_HUMAN	OV - Ovarian serous cystadenocarcinoma(7;0.00392)|all cancers(50;0.0117)|Epithelial(50;0.0454)		7	951	-	all_cancers(95;0.244)|Breast(50;0.0379)|Ovarian(93;0.0473)|all_epithelial(95;0.109)		268					A9EDQ5|B4DL59|B4E3J4|Q86XC2|Q8N9R5	Missense_Mutation	SNP	ENST00000324607.7	37	c.356T>C	CCDS34346.1	.	.	.	.	.	.	.	.	.	.	A	10.08	1.252450	0.22880	.	.	ENSG00000172197	ENST00000541730;ENST00000324607	T;T	0.39229	1.09;1.09	5.48	-1.24	0.09435	.	0.509330	0.21680	N	0.070732	T	0.11067	0.0270	L	0.37750	1.13	0.80722	D	1	B;B	0.14438	0.005;0.01	B;B	0.15484	0.012;0.013	T	0.14952	-1.0454	10	0.19590	T	0.45	-9.7257	6.558	0.22471	0.6519:0.1177:0.2304:0.0	.	119;268	Q6ZNC8-2;Q6ZNC8	.;MBOA1_HUMAN	A	119;268	ENSP00000441568:V119A;ENSP00000324944:V268A	ENSP00000324944:V268A	V	-	2	0	MBOAT1	20232722	0.001000	0.12720	0.008000	0.14137	0.377000	0.30045	1.255000	0.32909	-0.351000	0.08249	0.459000	0.35465	GTG		0.468	MBOAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039980.1			29	66	0	0	0	1	0	29	66					G	20124743	A	G	20124743	3	3	435	1	0	0	0	0	1	0	0	0	9356	159	6	4	708	4	MBOAT1	6	20124743	Missense_Mutation	SNP	A	TCGA-XK-AAIW-01A-11D-A41K-08	1911926	20124743	150990324	3037	23962											
PRL	5617	broad.mit.edu	37	chr6	22290546	22290546	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagaggctcattccaggatcGcaatatgctgactatcaggc	11	9	10	11	1	2	2	2	1	0	1	4	3	3	3	1	3	1	3	1	3	3	3	rs6238		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:22290546G>A	ENST00000306482.1	-	4	867	c.349C>T	c.(349-351)Cga>Tga	p.R117*	RP3-404K8.2_ENST00000561912.1_RNA	NM_000948.5|NM_001163558.2	NP_000939.1|NP_001157030.1	P01236	PRL_HUMAN	prolactin	117					cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|circadian rhythm (GO:0007623)|female pregnancy (GO:0007565)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lactation (GO:0007595)|multicellular organismal response to stress (GO:0033555)|ovulation cycle (GO:0042698)|parturition (GO:0007567)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of JAK-STAT cascade (GO:0046427)|regulation of multicellular organism growth (GO:0040014)|regulation of ossification (GO:0030278)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to lipopolysaccharide (GO:0032496)|response to nutrient (GO:0007584)|STAT protein import into nucleus (GO:0007262)	extracellular region (GO:0005576)|secretory granule (GO:0030141)	prolactin receptor binding (GO:0005148)	p.R117*(1)		NS(1)|endometrium(2)|large_intestine(6)|lung(6)|prostate(1)	16	Ovarian(93;0.163)					TTCCAGGATCGCAATATGCTG	0.428																																						ENST00000306482.1																			1	Substitution - Nonsense(1)	p.R117*(1)	large_intestine(1)	NS(1)|endometrium(2)|large_intestine(6)|lung(6)|prostate(1)	16						c.(349-351)Cga>Tga		prolactin							115	108	110					6																	22290546		2203	4300	6503	SO:0001587	stop_gained	5617				cell proliferation|cell surface receptor linked signaling pathway|female pregnancy|lactation|positive regulation of JAK-STAT cascade|regulation of multicellular organism growth	cytosol|extracellular region	hormone activity|prolactin receptor binding	g.chr6:22290546G>A	D00411	CCDS4548.1	6p22.3	2013-09-16			ENSG00000172179	ENSG00000172179			9445	protein-coding gene	gene with protein product		176760					Standard	NM_000948		Approved		uc003ndq.3	P01236	OTTHUMG00000016111	ENST00000306482.1:c.349C>T	6.37:g.22290546G>A	ENSP00000302150:p.Arg117*					RP3-404K8.2_ENST00000561912.1_RNA	p.R117*	NM_000948.5|NM_001163558.2	NP_000939.1|NP_001157030.1	P01236	PRL_HUMAN			4	867	-	Ovarian(93;0.163)		117					Q15199|Q92996	Nonsense_Mutation	SNP	ENST00000306482.1	37	c.349C>T	CCDS4548.1	.	.	.	.	.	.	.	.	.	.	G	39	7.431791	0.98279	.	.	ENSG00000172179	ENST00000306482;ENST00000438606	.	.	.	5.87	4.09	0.47781	.	0.376195	0.34088	N	0.004279	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	1.517	11.4725	0.50278	0.0648:0.0:0.8089:0.1263	rs6238;rs6238	.	.	.	X	117;86	.	ENSP00000302150:R117X	R	-	1	2	PRL	22398525	1.000000	0.71417	0.907000	0.35723	0.291000	0.27294	2.288000	0.43514	0.923000	0.37045	0.655000	0.94253	CGA		0.428	PRL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043327.1	NM_000948		27	39	0	0	0	1	0	27	39					A	22290546	G	A	22290546	4	1	435	1	0	0	0	0	0	1	0	0	12528	1095	38	1	342	1	PRL	6	22290546	Nonsense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	2165803	22290546	148824521	3038	23963											
DCDC2	51473	broad.mit.edu	37	chr6	24178685	24178685	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccatttacacgagcagggCgtgcctgctgctcactgtga	7	10	11	13	2	1	1	1	1	0	0	2	2	2	1	2	1	5	3	2	1	1	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:24178685C>T	ENST00000378454.3	-	9	1500	c.1199G>A	c.(1198-1200)cGc>cAc	p.R400H	DCDC2_ENST00000378450.3_Missense_Mutation_p.R153H	NM_001195610.1|NM_016356.3	NP_001182539.1|NP_057440.2	Q9UHG0	DCDC2_HUMAN	doublecortin domain containing 2	400					cellular defense response (GO:0006968)|dendrite morphogenesis (GO:0048813)|intracellular signal transduction (GO:0035556)|neuron migration (GO:0001764)|visual learning (GO:0008542)			p.R400H(1)		breast(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32		Ovarian(999;0.101)				ACGAGCAGGGCGTGCCTGCTG	0.517																																						ENST00000378454.3																			1	Substitution - Missense(1)	p.R400H(1)	endometrium(1)	breast(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32						c.(1198-1200)cGc>cAc		doublecortin domain containing 2							194	168	176					6																	24178685		2203	4300	6503	SO:0001583	missense	51473				cellular defense response|intracellular signal transduction|neuron migration			g.chr6:24178685C>T	AB032980	CCDS4550.1	6p22.1	2008-02-05			ENSG00000146038	ENSG00000146038			18141	protein-coding gene	gene with protein product		605755				10601354, 10574461	Standard	NM_001195610		Approved	RU2, KIAA1154, DCDC2A	uc003ndx.3	Q9UHG0	OTTHUMG00000016275	ENST00000378454.3:c.1199G>A	6.37:g.24178685C>T	ENSP00000367715:p.Arg400His					DCDC2_ENST00000378450.3_Missense_Mutation_p.R153H	p.R400H	NM_001195610.1|NM_016356.3	NP_001182539.1|NP_057440.2	Q9UHG0	DCDC2_HUMAN			9	1500	-		Ovarian(999;0.101)	400					Q5VTR8|Q5VTR9|Q86W35|Q9UFD1|Q9UHG1|Q9ULR6	Missense_Mutation	SNP	ENST00000378454.3	37	c.1199G>A	CCDS4550.1	.	.	.	.	.	.	.	.	.	.	c	7.518	0.656137	0.14580	.	.	ENSG00000146038	ENST00000378454;ENST00000378450	T;T	0.47869	4.08;0.83	4.83	-1.85	0.07784	.	1.136810	0.06522	N	0.739798	T	0.07818	0.0196	N	0.08118	0	0.09310	N	1	B;B	0.19445	0.021;0.036	B;B	0.08055	0.001;0.003	T	0.21348	-1.0248	10	0.45353	T	0.12	-0.0699	0.9028	0.01277	0.2735:0.2477:0.2995:0.1792	.	400;153	Q9UHG0;Q9UHG0-2	DCDC2_HUMAN;.	H	400;153	ENSP00000367715:R400H;ENSP00000367711:R153H	ENSP00000367711:R153H	R	-	2	0	DCDC2	24286664	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-0.643000	0.05421	-0.185000	0.10550	-0.218000	0.12543	CGC		0.517	DCDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043604.1	NM_016356		16	70	0	0	0	1	0	16	70					T	24178685	C	T	24178685	3	4	435	1	0	0	0	0	1	0	0	0	4285	768	27	1	239	1	DCDC2	6	24178685	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	1888139	24178685	146936382	3039	23964											
GPLD1	2822	broad.mit.edu	37	chr6	24450058	24450058	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcccaccgagggagctcccaCggccaggtcaggcacgccgt	7	3	14	17	4	1	0	1	0	0	0	2	2	2	1	5	4	1	2	5	4	0	0	rs142854013	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:24450058C>T	ENST00000230036.1	-	15	1515	c.1405G>A	c.(1405-1407)Gtg>Atg	p.V469M		NM_001503.3	NP_001494.2	P80108	PHLD_HUMAN	glycosylphosphatidylinositol specific phospholipase D1	469					cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to calcium ion (GO:0071277)|cellular response to cholesterol (GO:0071397)|cellular response to drug (GO:0035690)|cellular response to insulin stimulus (GO:0032869)|cellular response to pH (GO:0071467)|cellular response to triglyceride (GO:0071401)|chondrocyte differentiation (GO:0002062)|complement receptor mediated signaling pathway (GO:0002430)|GPI anchor release (GO:0006507)|hematopoietic stem cell migration (GO:0035701)|hematopoietic stem cell migration to bone marrow (GO:0097241)|insulin receptor signaling pathway (GO:0008286)|negative regulation of cell proliferation (GO:0008285)|negative regulation of triglyceride catabolic process (GO:0010897)|ossification (GO:0001503)|phosphatidylcholine metabolic process (GO:0046470)|positive regulation of alkaline phosphatase activity (GO:0010694)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cytolysis (GO:0045919)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of glucose metabolic process (GO:0010907)|positive regulation of high-density lipoprotein particle clearance (GO:0010983)|positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0035774)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|positive regulation of secretion (GO:0051047)|positive regulation of triglyceride biosynthetic process (GO:0010867)|regulation of cellular response to insulin stimulus (GO:1900076)|response to glucose (GO:0009749)|transepithelial transport (GO:0070633)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal membrane (GO:0005765)|proteinaceous extracellular matrix (GO:0005578)	glycosylphosphatidylinositol phospholipase D activity (GO:0004621)|phospholipase D activity (GO:0004630)|sodium channel regulator activity (GO:0017080)			breast(3)|endometrium(5)|kidney(1)|large_intestine(11)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	32						GGAGCTCCCACGGCCAGGTCA	0.617													C|||	2	0.000399361	0.0015	0	5008	,	,		16659	0		0	False		,,,				2504	0					ENST00000230036.1																			0				breast(3)|endometrium(5)|kidney(1)|large_intestine(11)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	32						c.(1405-1407)Gtg>Atg		glycosylphosphatidylinositol specific phospholipase D1							101	98	99					6																	24450058		2203	4300	6503	SO:0001583	missense	2822					extracellular region	glycosylphosphatidylinositol phospholipase D activity	g.chr6:24450058C>T	L11701	CCDS4553.1	6p22.1	2008-02-05			ENSG00000112293	ENSG00000112293			4459	protein-coding gene	gene with protein product		602515				11072085	Standard	NM_001503		Approved		uc003ned.2	P80108	OTTHUMG00000016104	ENST00000230036.1:c.1405G>A	6.37:g.24450058C>T	ENSP00000230036:p.Val469Met						p.V469M	NM_001503.3	NP_001494.2	P80108	PHLD_HUMAN			15	1515	-			469					Q15127|Q15128|Q2M2F2|Q5T3Y0|Q7Z6T8|Q8TCV0|Q8WW82|Q96ID6|Q9H167|Q9H4M1|Q9UJC9	Missense_Mutation	SNP	ENST00000230036.1	37	c.1405G>A	CCDS4553.1	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	C	22.1	4.247671	0.80024	.	.	ENSG00000112293	ENST00000230036	T	0.74209	-0.82	5.35	5.35	0.76521	.	0.098975	0.42821	D	0.000656	D	0.89808	0.6822	H	0.98256	4.185	0.80722	D	1	D	0.89917	1.0	D	0.78314	0.991	D	0.92836	0.6284	10	0.87932	D	0	-21.6547	13.3999	0.60876	0.0:0.922:0.0:0.078	.	469	P80108	PHLD_HUMAN	M	469	ENSP00000230036:V469M	ENSP00000230036:V469M	V	-	1	0	GPLD1	24558037	0.982000	0.34865	0.998000	0.56505	0.887000	0.51463	2.570000	0.45981	2.484000	0.83849	0.591000	0.81541	GTG		0.617	GPLD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043315.1	NM_001503		15	28	0	0	0	1	0	15	28					T	24450058	C	T	24450058	3	4	435	1	0	0	0	0	1	0	0	0	6614	536	19	1	1161	1	GPLD1	6	24450058	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	271373	24450058	146665009	3040	23965											
KIAA0319	9856	broad.mit.edu	37	chr6	24547556	24547556	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggctggagttgtgctctgtgCttcggtgcttgatacctaga	5	14	14	8	1	1	2	0	1	1	1	2	3	1	3	1	3	4	5	1	3	2	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:24547556C>T	ENST00000378214.3	-	21	3580	c.3056G>A	c.(3055-3057)aGc>aAc	p.S1019N	KIAA0319_ENST00000543707.1_Missense_Mutation_p.S1019N|KIAA0319_ENST00000430948.2_Missense_Mutation_p.S974N|KIAA0319_ENST00000535378.1_Missense_Mutation_p.S1010N|KIAA0319_ENST00000537886.1_Missense_Mutation_p.S958N	NM_001168375.1|NM_014809.3	NP_001161847.1|NP_055624.2	Q5VV43	K0319_HUMAN	KIAA0319	1019					negative regulation of dendrite development (GO:2000171)|neuron migration (GO:0001764)	early endosome (GO:0005769)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(3)|endometrium(6)|kidney(3)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	53						GTGCTCTGTGCTTCGGTGCTT	0.512																																						ENST00000535378.1																			0				breast(3)|endometrium(6)|kidney(3)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	53						c.(3028-3030)aGc>aAc		KIAA0319							129	115	119					6																	24547556		2203	4300	6503	SO:0001583	missense	9856				negative regulation of dendrite development|neuron migration	early endosome membrane|integral to membrane|plasma membrane	protein binding	g.chr6:24547556C>T	AB002317	CCDS34348.1, CCDS54969.1, CCDS54970.1, CCDS54971.1, CCDS75409.1	6p22.3	2013-12-13			ENSG00000137261	ENSG00000137261			21580	protein-coding gene	gene with protein product	"neuronal migration"	609269				9205841, 15514892	Standard	NM_014809		Approved	NMIG	uc003neh.1	Q5VV43	OTTHUMG00000014358	ENST00000378214.3:c.3056G>A	6.37:g.24547556C>T	ENSP00000367459:p.Ser1019Asn					KIAA0319_ENST00000378214.3_Missense_Mutation_p.S1019N|KIAA0319_ENST00000430948.2_Missense_Mutation_p.S974N|KIAA0319_ENST00000543707.1_Missense_Mutation_p.S1019N|KIAA0319_ENST00000537886.1_Missense_Mutation_p.S958N	p.S1010N	NM_001168374.1	NP_001161846.1	Q5VV43	K0319_HUMAN			22	3671	-			1019					A7MD37|B2RTU7|B4DHA7|B4DK75|B7ZML3|F5H123|Q9UJC8|Q9Y4G7	Missense_Mutation	SNP	ENST00000378214.3	37	c.3029G>A	CCDS34348.1	.	.	.	.	.	.	.	.	.	.	C	17.97	3.519320	0.64634	.	.	ENSG00000137261	ENST00000537886;ENST00000535378;ENST00000430948;ENST00000378214;ENST00000543707	T;T;T;T;T	0.13307	2.6;3.05;3.07;3.05;3.05	4.76	4.76	0.60689	.	0.177579	0.47093	D	0.000258	T	0.18964	0.0455	L	0.47716	1.5	0.47778	D	0.999515	D;D;D	0.59357	0.959;0.985;0.974	P;P;P	0.58873	0.714;0.847;0.707	T	0.00728	-1.1591	10	0.45353	T	0.12	-11.897	17.9513	0.89053	0.0:1.0:0.0:0.0	.	958;1010;1019	F5H123;Q5VV43-2;Q5VV43	.;.;K0319_HUMAN	N	958;1010;974;1019;1019	ENSP00000439700:S958N;ENSP00000442403:S1010N;ENSP00000401086:S974N;ENSP00000367459:S1019N;ENSP00000437656:S1019N	ENSP00000367459:S1019N	S	-	2	0	KIAA0319	24655535	1.000000	0.71417	0.996000	0.52242	0.994000	0.84299	6.283000	0.72646	2.451000	0.82905	0.655000	0.94253	AGC		0.512	KIAA0319-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040009.1	NM_014809		13	30	0	0	0	1	0	13	30					T	24547556	C	T	24547556	3	4	435	1	0	0	0	0	1	0	0	0	8168	797	28	3	166	3	KIAA0319	6	24547556	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	97498	24547556	146567511	3041	23966											
KIAA0319	9856	broad.mit.edu	37	chr6	24559300	24559300	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagccttctcctttgagagcCgcatgtgcagatttcgggcc	6	11	11	13	2	1	2	0	1	1	2	3	3	1	2	4	1	3	2	4	1	0	3	rs141240086		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:24559300C>T	ENST00000378214.3	-	17	3199	c.2675G>A	c.(2674-2676)cGg>cAg	p.R892Q	KIAA0319_ENST00000543707.1_Missense_Mutation_p.R892Q|KIAA0319_ENST00000430948.2_Missense_Mutation_p.R847Q|KIAA0319_ENST00000535378.1_Missense_Mutation_p.R883Q|KIAA0319_ENST00000537886.1_Missense_Mutation_p.R892Q	NM_001168375.1|NM_014809.3	NP_001161847.1|NP_055624.2	Q5VV43	K0319_HUMAN	KIAA0319	892					negative regulation of dendrite development (GO:2000171)|neuron migration (GO:0001764)	early endosome (GO:0005769)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(3)|endometrium(6)|kidney(3)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	53						CTTTGAGAGCCGCATGTGCAG	0.478													C|||	1	0.000199681	0	0.0014	5008	,	,		19234	0		0	False		,,,				2504	0					ENST00000535378.1																			0				breast(3)|endometrium(6)|kidney(3)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	53						c.(2647-2649)cGg>cAg		KIAA0319		C	GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	70	61	65		2648,2675,2540,2675,2675	2	0.4	6	dbSNP_134	65	7,8593	5.7+/-21.5	0,7,4293	yes	missense,missense,missense,missense,missense	KIAA0319	NM_001168374.1,NM_001168375.1,NM_001168376.1,NM_001168377.1,NM_014809.3	43,43,43,43,43	0,8,6495	TT,TC,CC		0.0814,0.0227,0.0615	benign,benign,benign,benign,benign	883/1064,892/1073,847/1028,892/1012,892/1073	24559300	8,12998	2203	4300	6503	SO:0001583	missense	9856				negative regulation of dendrite development|neuron migration	early endosome membrane|integral to membrane|plasma membrane	protein binding	g.chr6:24559300C>T	AB002317	CCDS34348.1, CCDS54969.1, CCDS54970.1, CCDS54971.1, CCDS75409.1	6p22.3	2013-12-13			ENSG00000137261	ENSG00000137261			21580	protein-coding gene	gene with protein product	"neuronal migration"	609269				9205841, 15514892	Standard	NM_014809		Approved	NMIG	uc003neh.1	Q5VV43	OTTHUMG00000014358	ENST00000378214.3:c.2675G>A	6.37:g.24559300C>T	ENSP00000367459:p.Arg892Gln					KIAA0319_ENST00000378214.3_Missense_Mutation_p.R892Q|KIAA0319_ENST00000430948.2_Missense_Mutation_p.R847Q|KIAA0319_ENST00000543707.1_Missense_Mutation_p.R892Q|KIAA0319_ENST00000537886.1_Missense_Mutation_p.R892Q	p.R883Q	NM_001168374.1	NP_001161846.1	Q5VV43	K0319_HUMAN			18	3290	-			892					A7MD37|B2RTU7|B4DHA7|B4DK75|B7ZML3|F5H123|Q9UJC8|Q9Y4G7	Missense_Mutation	SNP	ENST00000378214.3	37	c.2648G>A	CCDS34348.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	C	4.290	0.053069	0.08291	2.27E-4	8.14E-4	ENSG00000137261	ENST00000537886;ENST00000535378;ENST00000430948;ENST00000378214;ENST00000543707	T;T;T;T;T	0.05786	3.39;3.39;3.4;3.4;3.4	3.94	2.04	0.26737	.	0.218608	0.38548	N	0.001644	T	0.00496	0.0016	N	0.01410	-0.885	0.09310	N	0.999991	B;B;B	0.23891	0.093;0.093;0.056	B;B;B	0.12837	0.005;0.008;0.003	T	0.43294	-0.9400	10	0.10111	T	0.7	-11.2212	4.4751	0.11731	0.0:0.4683:0.0:0.5317	.	892;883;892	F5H123;Q5VV43-2;Q5VV43	.;.;K0319_HUMAN	Q	892;883;847;892;892	ENSP00000439700:R892Q;ENSP00000442403:R883Q;ENSP00000401086:R847Q;ENSP00000367459:R892Q;ENSP00000437656:R892Q	ENSP00000367459:R892Q	R	-	2	0	KIAA0319	24667279	0.979000	0.34478	0.426000	0.26672	0.971000	0.66376	1.685000	0.37659	0.924000	0.37069	0.650000	0.86243	CGG		0.478	KIAA0319-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040009.1	NM_014809		15	14	0	0	0	1	0	15	14					T	24559300	C	T	24559300	3	4	435	1	0	0	0	0	1	0	0	0	8168	652	23	2	563	2	KIAA0319	6	24559300	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	11744	24559300	146555767	3042	23967											
LRRC16A	55604	broad.mit.edu	37	chr6	25600698	25600698	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atcttgatgacagaagaaccCtcctcaccaaaaggggcagt	14	7	9	11	0	2	4	1	2	1	2	3	4	3	4	3	2	1	1	3	2	4	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:25600698C>T	ENST00000329474.6	+	33	3644	c.3276C>T	c.(3274-3276)ccC>ccT	p.P1092P		NM_001173977.1|NM_017640.5	NP_001167448.1|NP_060110.4	Q5VZK9	LR16A_HUMAN	leucine rich repeat containing 16A	1092					actin filament organization (GO:0007015)|barbed-end actin filament uncapping (GO:0051638)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|lamellipodium assembly (GO:0030032)|negative regulation of barbed-end actin filament capping (GO:2000813)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell migration (GO:0030335)|positive regulation of lamellipodium organization (GO:1902745)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|ruffle organization (GO:0031529)|urate metabolic process (GO:0046415)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|lamellipodium (GO:0030027)|nucleus (GO:0005634)	protein complex binding (GO:0032403)			breast(4)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	50						CAGAAGAACCCTCCTCACCAA	0.498																																						ENST00000329474.6																			0				breast(4)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	50						c.(3274-3276)ccC>ccT		leucine rich repeat containing 16A							68	68	68					6																	25600698		1906	4107	6013	SO:0001819	synonymous_variant	55604				actin filament organization|blood coagulation|cell migration|lamellipodium assembly|ruffle organization|urate metabolic process	cytosol|lamellipodium|nucleus		g.chr6:25600698C>T	AK000055	CCDS54973.1	6p22.1	2010-09-10	2008-02-12	2008-02-12	ENSG00000079691	ENSG00000079691			21581	protein-coding gene	gene with protein product	"capping protein, Arp2/3, and Myosin-I Linker homolog 1 (Dictyostelium)"	609593	"leucine rich repeat containing 16"	LRRC16		19846667	Standard	NM_017640		Approved	dJ501N12.1, FLJ20048, CARMIL, CARMIL1	uc011djw.2	Q5VZK9	OTTHUMG00000014393	ENST00000329474.6:c.3276C>T	6.37:g.25600698C>T							p.P1092P	NM_001173977.1|NM_017640.5	NP_001167448.1|NP_060110.4	Q5VZK9	LR16A_HUMAN			33	3644	+			1092					B8X1J0|Q6ZUH5|Q6ZW07|Q9NXU7	Silent	SNP	ENST00000329474.6	37	c.3276C>T	CCDS54973.1																																																																																				0.498	LRRC16A-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000040045.2	NM_017640		8	46	0	0	0	1	0	8	46					T	25600698	C	T	25600698	2	4	435	1	0	0	0	0	0	0	0	1	8971	668	24	3		3	LRRC16A	6	25600698	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	1041398	25600698	145514369	3043	23968											
LRRC16A	55604	broad.mit.edu	37	chr6	25606390	25606390	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cggaagcaggctccaggtctCggagctcatccagcacacct	9	6	11	15	2	2	0	1	0	1	0	5	2	4	2	3	4	3	4	3	4	1	0	rs368129452		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:25606390C>T	ENST00000329474.6	+	35	4104	c.3736C>T	c.(3736-3738)Cgg>Tgg	p.R1246W		NM_001173977.1|NM_017640.5	NP_001167448.1|NP_060110.4	Q5VZK9	LR16A_HUMAN	leucine rich repeat containing 16A	1246	Poly-Ser.				actin filament organization (GO:0007015)|barbed-end actin filament uncapping (GO:0051638)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|lamellipodium assembly (GO:0030032)|negative regulation of barbed-end actin filament capping (GO:2000813)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell migration (GO:0030335)|positive regulation of lamellipodium organization (GO:1902745)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|ruffle organization (GO:0031529)|urate metabolic process (GO:0046415)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|lamellipodium (GO:0030027)|nucleus (GO:0005634)	protein complex binding (GO:0032403)			breast(4)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	50						CTCCAGGTCTCGGAGCTCATC	0.587													C|||	1	0.000199681	0	0	5008	,	,		16552	0		0	False		,,,				2504	0.001					ENST00000329474.6																			0				breast(4)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	50						c.(3736-3738)Cgg>Tgg		leucine rich repeat containing 16A							56	66	63					6																	25606390		1930	4148	6078	SO:0001583	missense	55604				actin filament organization|blood coagulation|cell migration|lamellipodium assembly|ruffle organization|urate metabolic process	cytosol|lamellipodium|nucleus		g.chr6:25606390C>T	AK000055	CCDS54973.1	6p22.1	2010-09-10	2008-02-12	2008-02-12	ENSG00000079691	ENSG00000079691			21581	protein-coding gene	gene with protein product	"capping protein, Arp2/3, and Myosin-I Linker homolog 1 (Dictyostelium)"	609593	"leucine rich repeat containing 16"	LRRC16		19846667	Standard	NM_017640		Approved	dJ501N12.1, FLJ20048, CARMIL, CARMIL1	uc011djw.2	Q5VZK9	OTTHUMG00000014393	ENST00000329474.6:c.3736C>T	6.37:g.25606390C>T	ENSP00000331983:p.Arg1246Trp						p.R1246W	NM_001173977.1|NM_017640.5	NP_001167448.1|NP_060110.4	Q5VZK9	LR16A_HUMAN			35	4104	+			1246			Poly-Ser.		B8X1J0|Q6ZUH5|Q6ZW07|Q9NXU7	Missense_Mutation	SNP	ENST00000329474.6	37	c.3736C>T	CCDS54973.1	.	.	.	.	.	.	.	.	.	.	C	19.08	3.757108	0.69648	.	.	ENSG00000079691	ENST00000329474;ENST00000399313	T	0.17528	2.27	5.85	4.98	0.66077	.	0.134134	0.48286	N	0.000194	T	0.22282	0.0537	L	0.57536	1.79	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.999	D;P;P	0.66847	0.947;0.895;0.893	T	0.02173	-1.1201	10	0.54805	T	0.06	-9.3541	9.0951	0.36634	0.2392:0.6893:0.0:0.0715	.	1246;1240;1201	Q5VZK9;B2RTQ5;Q5VZK9-2	LR16A_HUMAN;.;.	W	1246;1201	ENSP00000331983:R1246W	ENSP00000331983:R1246W	R	+	1	2	LRRC16A	25714369	0.265000	0.24102	0.843000	0.33291	0.913000	0.54294	0.649000	0.24843	1.469000	0.48083	0.655000	0.94253	CGG		0.587	LRRC16A-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000040045.2	NM_017640		8	15	0	0	0	1	0	8	15					T	25606390	C	T	25606390	3	4	435	1	0	0	0	0	1	0	0	0	8971	875	31	2	3874	2	LRRC16A	6	25606390	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	5692	25606390	145508677	3044	23969											
SCGN	10590	broad.mit.edu	37	chr6	25661856	25661856	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agatgcctctaaagatggtcGcattcggatgaaagaggtaa	14	9	12	6	2	1	4	0	1	1	3	3	5	1	5	1	3	1	2	1	3	4	3	rs376721140		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:25661856G>A	ENST00000377961.2	+	3	398	c.230G>A	c.(229-231)cGc>cAc	p.R77H	SCGN_ENST00000334979.6_3'UTR	NM_006998.3	NP_008929.2	O76038	SEGN_HUMAN	secretagogin, EF-hand calcium binding protein	77	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.					cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular region (GO:0005576)|membrane (GO:0016020)	calcium ion binding (GO:0005509)			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	24						AAAGATGGTCGCATTCGGATG	0.403																																						ENST00000377961.2																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	24						c.(229-231)cGc>cAc		secretagogin, EF-hand calcium binding protein		G	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	150	133	138		230	-2.1	0	6		138	2,8598	2.2+/-6.3	0,2,4298	no	missense	SCGN	NM_006998.3	29	0,3,6500	AA,AG,GG		0.0233,0.0227,0.0231	benign	77/277	25661856	3,13003	2203	4300	6503	SO:0001583	missense	10590					extracellular region|transport vesicle membrane	calcium ion binding	g.chr6:25661856G>A	BC000336	CCDS4561.1	6p22.3-p22.1	2013-01-10			ENSG00000079689	ENSG00000079689		"EF-hand domain containing"	16941	protein-coding gene	gene with protein product	"calbindin-like"	609202				10811645	Standard	NM_006998		Approved	SECRET, DJ501N12.8, SEGN, CALBL	uc003nfb.3	O76038	OTTHUMG00000014409	ENST00000377961.2:c.230G>A	6.37:g.25661856G>A	ENSP00000367197:p.Arg77His					SCGN_ENST00000334979.6_3'UTR	p.R77H	NM_006998.3	NP_008929.2	O76038	SEGN_HUMAN			3	398	+			77			EF-hand 2.		A8K0B2|Q5VV44|Q96QV7|Q9UJF6	Missense_Mutation	SNP	ENST00000377961.2	37	c.230G>A	CCDS4561.1	.	.	.	.	.	.	.	.	.	.	G	7.789	0.711245	0.15239	2.27E-4	2.33E-4	ENSG00000079689	ENST00000377961	T	0.09817	2.94	3.24	-2.06	0.07298	EF-hand-like domain (1);	0.600109	0.18023	N	0.154165	T	0.03477	0.0100	L	0.55213	1.73	0.09310	N	0.999999	B	0.18310	0.027	B	0.08055	0.003	T	0.36432	-0.9748	10	0.54805	T	0.06	.	10.386	0.44140	0.3719:0.0:0.6281:0.0	.	77	O76038	SEGN_HUMAN	H	77	ENSP00000367197:R77H	ENSP00000367197:R77H	R	+	2	0	SCGN	25769835	0.001000	0.12720	0.000000	0.03702	0.140000	0.21249	0.078000	0.14761	-0.554000	0.06150	-1.316000	0.01300	CGC		0.403	SCGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040067.1			14	39	0	0	0	1	0	14	39					A	25661856	G	A	25661856	3	1	435	1	0	0	0	0	1	0	0	0	13903	1087	38	1	240	1	SCGN	6	25661856	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	55466	25661856	145453211	3045	23970											
HIST1H4A	8359	broad.mit.edu	37	chr6	26021992	26021992	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gttgcgtgacaacatccaggGcatcaccaagccggccatcc	10	6	10	15	2	1	1	1	1	0	0	3	1	3	1	5	2	3	2	5	2	2	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:26021992G>A	ENST00000359907.3	+	1	86	c.86G>A	c.(85-87)gGc>gAc	p.G29D		NM_003538.3	NP_003529.1	P62805	H4_HUMAN	histone cluster 1, H4a	29					CENP-A containing nucleosome assembly (GO:0034080)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|histone H4-K20 demethylation (GO:0035574)|mitotic cell cycle (GO:0000278)|negative regulation of megakaryocyte differentiation (GO:0045653)|nucleosome assembly (GO:0006334)|telomere maintenance (GO:0000723)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|histone demethylase activity (H4-K20 specific) (GO:0035575)|poly(A) RNA binding (GO:0044822)			large_intestine(1)|skin(1)	2						AACATCCAGGGCATCACCAAG	0.617																																						ENST00000359907.3																			0				large_intestine(1)|skin(1)	2						c.(85-87)gGc>gAc		histone cluster 1, H4a							77	78	77					6																	26021992		2203	4300	6503	SO:0001583	missense	8359				CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding	g.chr6:26021992G>A	X60481	CCDS4571.1	6p22.1	2011-01-27	2006-10-11	2003-03-07	ENSG00000196176	ENSG00000278637		"Histones / Replication-dependent"	4781	protein-coding gene	gene with protein product		602822	"H4 histone family, member A", "histone 1, H4a"	H4FA		9119399, 12408966	Standard	NM_003538		Approved		uc003nfq.3	P62805	OTTHUMG00000014419	ENST00000359907.3:c.86G>A	6.37:g.26021992G>A	ENSP00000352980:p.Gly29Asp						p.G29D	NM_003538.3	NP_003529.1	P62805	H4_HUMAN			1	86	+			29					A2VCL0|P02304|P02305|Q6DRA9|Q6FGB8|Q6NWP7	Missense_Mutation	SNP	ENST00000359907.3	37	c.86G>A	CCDS4571.1	.	.	.	.	.	.	.	.	.	.	g	29.5	5.011987	0.93346	.	.	ENSG00000196176	ENST00000359907	T	0.67523	-0.27	3.79	3.79	0.43588	.	.	.	.	.	T	0.67097	0.2857	.	.	.	0.51482	D	0.999922	.	.	.	.	.	.	T	0.67937	-0.5541	5	.	.	.	.	15.5278	0.75925	0.0:0.0:1.0:0.0	.	.	.	.	D	29	ENSP00000352980:G29D	.	G	+	2	0	HIST1H4A	26129971	1.000000	0.71417	1.000000	0.80357	0.886000	0.51366	9.138000	0.94501	2.033000	0.60031	0.655000	0.94253	GGC		0.617	HIST1H4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040081.1	NM_003538		20	22	0	0	0	1	0	20	22					A	26021992	G	A	26021992	3	1	435	1	0	0	0	0	1	0	0	0	7165	1203	42	3	88	3	HIST1H4A	6	26021992	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	360136	26021992	145093075	3046	23971											
HIST1H1T	3010	broad.mit.edu	37	chr6	26107855	26107855	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttttaggagttgtcgctctcGgcttcttggctctcttattg	3	19	10	9	2	3	0	0	0	3	0	6	1	3	1	0	3	0	4	0	3	2	7	rs371913646		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:26107855G>A	ENST00000338379.4	-	1	509	c.467C>T	c.(466-468)cCg>cTg	p.P156L		NM_005323.3	NP_005314.2	P22492	H1T_HUMAN	histone cluster 1, H1t	156					binding of sperm to zona pellucida (GO:0007339)|cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|nucleosome assembly (GO:0006334)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)	condensed nuclear chromosome (GO:0000794)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(2)|endometrium(1)|lung(3)|ovary(2)|prostate(1)	9						TGTCGCTCTCGGCTTCTTGGC	0.488																																						ENST00000338379.4																			0				breast(2)|endometrium(1)|lung(3)|ovary(2)|prostate(1)	9						c.(466-468)cCg>cTg		histone cluster 1, H1t		G	LEU/PRO	1,4405		0,1,2202	131	122	125		467	2	0	6		125	0,8600		0,0,4300	no	missense	HIST1H1T	NM_005323.3	98	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	156/208	26107855	1,13005	2203	4300	6503	SO:0001583	missense	3010				cell differentiation|multicellular organismal development|nucleosome assembly|spermatogenesis	nucleosome	DNA binding	g.chr6:26107855G>A	M60094	CCDS34349.1	6p22.1	2011-01-27	2006-10-11	2003-02-21	ENSG00000187475	ENSG00000187475		"Histones / Replication-dependent"	4720	protein-coding gene	gene with protein product		142712	"H1 histone family, member T (testis-specific)", "histone 1, H1t"	H1FT		8175896, 12408966	Standard	NM_005323		Approved	H1t	uc003ngj.3	P22492	OTTHUMG00000014430	ENST00000338379.4:c.467C>T	6.37:g.26107855G>A	ENSP00000341214:p.Pro156Leu						p.P156L	NM_005323.3	NP_005314.2	P22492	H1T_HUMAN			1	509	-			156					Q6ISI1|Q8IUE8	Missense_Mutation	SNP	ENST00000338379.4	37	c.467C>T	CCDS34349.1	.	.	.	.	.	.	.	.	.	.	.	12.18	1.859805	0.32884	2.27E-4	0.0	ENSG00000187475	ENST00000338379	T	0.06449	3.3	5.08	2.03	0.26663	.	0.216848	0.39407	N	0.001380	T	0.01124	0.0037	N	0.08118	0	0.25243	N	0.989735	D	0.60160	0.987	B	0.40165	0.321	T	0.49661	-0.8916	10	0.66056	D	0.02	-3.1975	8.9592	0.35836	0.0:0.1721:0.5327:0.2953	.	156	P22492	H1T_HUMAN	L	156	ENSP00000341214:P156L	ENSP00000341214:P156L	P	-	2	0	HIST1H1T	26215834	0.028000	0.19301	0.002000	0.10522	0.050000	0.14768	0.235000	0.17948	0.183000	0.20059	0.655000	0.94253	CCG		0.488	HIST1H1T-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040093.2	NM_005323		49	67	0	0	0	1	0	49	67					A	26107855	G	A	26107855	3	1	435	1	0	0	0	0	1	0	0	0	7127	1116	39	2	160	2	HIST1H1T	6	26107855	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	85863	26107855	145007212	3047	23972											
HIST1H3E	8353	broad.mit.edu	37	chr6	26225632	26225632	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aggacttcaagaccgacctgCgcttccagagttccgcggtg	8	8	12	13	4	1	2	1	0	0	2	3	4	3	3	4	2	1	2	4	2	1	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:26225632C>T	ENST00000360408.1	+	1	250	c.250C>T	c.(250-252)Cgc>Tgc	p.R84C		NM_003532.2	NP_003523.1	P68431	H31_HUMAN	histone cluster 1, H3e	84					blood coagulation (GO:0007596)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|regulation of gene silencing (GO:0060968)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)			endometrium(1)|large_intestine(1)|lung(5)|skin(1)	8		all_hematologic(11;0.0223)|Acute lymphoblastic leukemia(11;0.0351)				GACCGACCTGCGCTTCCAGAG	0.587																																						ENST00000360408.1																			0				endometrium(1)|large_intestine(1)|lung(5)|skin(1)	8						c.(250-252)Cgc>Tgc		histone cluster 1, H3e							76	74	74					6																	26225632		2203	4300	6503	SO:0001583	missense	8353				blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding	g.chr6:26225632C>T	M60746	CCDS4596.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000196966	ENSG00000274750		"Histones / Replication-dependent"	4769	protein-coding gene	gene with protein product		602813	"H3 histone family, member D", "histone 1, H3e"	H3FD		1916825, 12408966	Standard	NM_003532		Approved	H3/d, H3.1	uc003nhc.4	P68431	OTTHUMG00000014434	ENST00000360408.1:c.250C>T	6.37:g.26225632C>T	ENSP00000353581:p.Arg84Cys						p.R84C	NM_003532.2	NP_003523.1	P68431	H31_HUMAN			1	250	+		all_hematologic(11;0.0223)|Acute lymphoblastic leukemia(11;0.0351)	84					A0PJT7|A5PLR1|P02295|P02296|P16106|Q6ISV8|Q6NWP8|Q6NWP9|Q6NXU4|Q71DJ3|Q93081	Missense_Mutation	SNP	ENST00000360408.1	37	c.250C>T	CCDS4596.1	.	.	.	.	.	.	.	.	.	.	.	11.97	1.796240	0.31777	.	.	ENSG00000196966	ENST00000360408	T	0.75821	-0.97	4.54	3.66	0.41972	.	.	.	.	.	T	0.76463	0.3991	.	.	.	0.49299	D	0.999773	.	.	.	.	.	.	T	0.80044	-0.1547	6	0.62326	D	0.03	.	14.137	0.65293	0.0:0.8489:0.1511:0.0	.	.	.	.	C	84	ENSP00000353581:R84C	ENSP00000353581:R84C	R	+	1	0	HIST1H3E	26333611	1.000000	0.71417	1.000000	0.80357	0.014000	0.08584	7.535000	0.82014	1.274000	0.44362	0.491000	0.48974	CGC		0.587	HIST1H3E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040097.1	NM_003532		18	35	0	0	0	1	0	18	35					T	26225632	C	T	26225632	3	4	435	1	0	0	0	0	1	0	0	0	7159	768	27	1	252	1	HIST1H3E	6	26225632	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	117777	26225632	144889435	3048	23973											
HIST1H3G	8355	broad.mit.edu	37	chr6	26271587	26271587	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctttgccaccggtggacttgCgtgcagtctgcttggtgcgg	3	12	15	11	3	1	0	0	0	1	0	1	1	1	1	2	4	5	2	2	4	0	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:26271587C>T	ENST00000305910.3	-	1	25	c.26G>A	c.(25-27)cGc>cAc	p.R9H	HIST1H2BI_ENST00000377733.2_5'Flank	NM_003534.2	NP_003525.1	P68431	H31_HUMAN	histone cluster 1, H3g	9					blood coagulation (GO:0007596)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|regulation of gene silencing (GO:0060968)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	12						GGTGGACTTGCGTGCAGTCTG	0.572																																						ENST00000305910.3																			0				breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	12						c.(25-27)cGc>cAc		histone cluster 1, H3g							26	30	28					6																	26271587		2197	4295	6492	SO:0001583	missense	8355				blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding	g.chr6:26271587C>T	Z80785	CCDS4602.1	6p22.1	2011-07-22	2006-10-11	2003-03-14	ENSG00000256018			"Histones / Replication-dependent"	4772	protein-coding gene	gene with protein product		602815	"H3 histone family, member H", "histone 1, H3g"	H3FH		9119399, 12408966	Standard	NM_003534		Approved	H3/h	uc003nhi.3	P68431	OTTHUMG00000014436	ENST00000305910.3:c.26G>A	6.37:g.26271587C>T	ENSP00000439660:p.Arg9His						p.R9H	NM_003534.2	NP_003525.1	P68431	H31_HUMAN			1	25	-			9					A0PJT7|A5PLR1|P02295|P02296|P16106|Q6ISV8|Q6NWP8|Q6NWP9|Q6NXU4|Q71DJ3|Q93081	Missense_Mutation	SNP	ENST00000305910.3	37	c.26G>A	CCDS4602.1	.	.	.	.	.	.	.	.	.	.	.	11.71	1.720970	0.30503	.	.	ENSG00000256018	ENST00000305910	T	0.47869	0.83	4.56	4.56	0.56223	.	.	.	.	.	T	0.56645	0.1999	.	.	.	0.44201	D	0.997025	.	.	.	.	.	.	T	0.61997	-0.6947	6	0.62326	D	0.03	.	16.7227	0.85414	0.0:1.0:0.0:0.0	.	.	.	.	H	9	ENSP00000439660:R9H	ENSP00000439660:R9H	R	-	2	0	HIST1H3G	26379566	1.000000	0.71417	0.621000	0.29145	0.152000	0.21847	7.645000	0.83430	2.265000	0.75225	0.563000	0.77884	CGC		0.572	HIST1H3G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040099.2	NM_003534		5	42	0	0	0	1	0	5	42					T	26271587	C	T	26271587	3	4	435	1	0	0	0	0	1	0	0	0	7161	768	27	1	388	1	HIST1H3G	6	26271587	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	45955	26271587	144843480	3049	23974											
BTN2A2	10385	broad.mit.edu	37	chr6	26392674	26392674	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggaccggagaagtgtgaggCggggcccctacaggcagaga	11	3	18	9	2	0	3	0	1	0	2	0	6	0	4	3	6	1	1	3	6	2	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:26392674C>T	ENST00000356709.4	+	8	1162	c.1051C>T	c.(1051-1053)Cgg>Tgg	p.R351W	BTN2A2_ENST00000432533.2_3'UTR|BTN2A2_ENST00000352867.2_Missense_Mutation_p.R235W|BTN2A2_ENST00000416795.2_Missense_Mutation_p.R351W|BTN2A2_ENST00000482536.1_Missense_Mutation_p.R141W|BTN2A2_ENST00000469230.1_Intron	NM_001197240.1|NM_006995.4	NP_001184169.1|NP_008926.2	Q8WVV5	BT2A2_HUMAN	butyrophilin, subfamily 2, member A2	351	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				negative regulation of activated T cell proliferation (GO:0046007)|negative regulation of cellular metabolic process (GO:0031324)|negative regulation of cytokine secretion (GO:0050710)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(2)|endometrium(3)|large_intestine(5)|lung(13)	23						AAGTGTGAGGCGGGGCCCCTA	0.577																																						ENST00000356709.4																			0				breast(2)|endometrium(3)|large_intestine(5)|lung(13)	23						c.(1051-1053)Cgg>Tgg		butyrophilin, subfamily 2, member A2							71	72	72					6																	26392674		2203	4300	6503	SO:0001583	missense	10385				negative regulation of activated T cell proliferation|negative regulation of cellular metabolic process|negative regulation of cytokine secretion	integral to membrane		g.chr6:26392674C>T	U90550	CCDS4606.1, CCDS4607.1, CCDS56401.1, CCDS56402.1, CCDS56403.1	6p22.1	2014-01-14			ENSG00000124508	ENSG00000124508		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Butyrophilins"	1137	protein-coding gene	gene with protein product		613591				10354554, 9149941	Standard	NM_006995		Approved	BTF2, BT2.2, BTN2.2	uc003nhq.3	Q8WVV5	OTTHUMG00000014452	ENST00000356709.4:c.1051C>T	6.37:g.26392674C>T	ENSP00000349143:p.Arg351Trp					BTN2A2_ENST00000416795.2_Missense_Mutation_p.R351W|BTN2A2_ENST00000352867.2_Missense_Mutation_p.R235W|BTN2A2_ENST00000432533.2_3'UTR|BTN2A2_ENST00000469230.1_Intron|BTN2A2_ENST00000482536.1_Missense_Mutation_p.R141W	p.R351W	NM_001197240.1|NM_006995.4	NP_001184169.1|NP_008926.2	Q8WVV5	BT2A2_HUMAN			8	1162	+			351			B30.2/SPRY.		A6NM84|B4DE97|B4DQ01|E9PH07|O00480	Missense_Mutation	SNP	ENST00000356709.4	37	c.1051C>T	CCDS4606.1	.	.	.	.	.	.	.	.	.	.	.	10.63	1.403533	0.25291	.	.	ENSG00000124508	ENST00000490025;ENST00000356709;ENST00000352867;ENST00000482536;ENST00000416795	T;T;T;T;T	0.11277	2.79;2.79;2.79;2.79;2.79	3.92	0.869	0.19096	Concanavalin A-like lectin/glucanase (1);SPRY-associated (1);Butyrophylin-like (1);B30.2/SPRY domain (1);	0.000000	0.45361	D	0.000363	T	0.10035	0.0246	L	0.58354	1.805	0.09310	N	1	D;P;P	0.89917	1.0;0.615;0.577	D;B;B	0.73708	0.981;0.227;0.111	T	0.12630	-1.0540	10	0.35671	T	0.21	.	5.8657	0.18773	0.334:0.5681:0.0:0.098	.	141;235;351	E9PH07;A6NM84;Q8WVV5	.;.;BT2A2_HUMAN	W	146;351;235;141;351	ENSP00000418965:R146W;ENSP00000349143:R351W;ENSP00000337117:R235W;ENSP00000419451:R141W;ENSP00000399308:R351W	ENSP00000337117:R235W	R	+	1	2	BTN2A2	26500653	0.000000	0.05858	0.000000	0.03702	0.288000	0.27193	-1.659000	0.01975	-0.065000	0.13021	0.454000	0.30748	CGG		0.577	BTN2A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040117.1			12	42	0	0	0	1	0	12	42					T	26392674	C	T	26392674	3	4	435	1	0	0	0	0	1	0	0	0	1561	759	27	1	1077	1	BTN2A2	6	26392674	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	121087	26392674	144722393	3050	23975											
ZNF184	7738	broad.mit.edu	37	chr6	27420267	27420267	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	catttaaaaggtttttctccCgtatgaattttctgatgttc	9	19	6	7	1	2	2	0	2	2	0	4	2	2	2	1	1	0	3	1	1	4	8	rs374733457		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:27420267C>T	ENST00000211936.6	-	6	1355	c.1071G>A	c.(1069-1071)acG>acA	p.T357T	ZNF184_ENST00000377419.1_Silent_p.T357T	NM_007149.2	NP_009080.2	Q99676	ZN184_HUMAN	zinc finger protein 184	357					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.T357T(1)		breast(1)|cervix(1)|endometrium(4)|kidney(9)|large_intestine(13)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	48						GTTTTTCTCCCGTATGAATTT	0.378																																						ENST00000211936.6																			1	Substitution - coding silent(1)	p.T357T(1)	kidney(1)	breast(1)|cervix(1)|endometrium(4)|kidney(9)|large_intestine(13)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	48						c.(1069-1071)acG>acA		zinc finger protein 184		T		1,4405	819.0+/-416.3	0,1,2202	51	51	51		1071	-0.4	1	6		51	0,8600		0,0,4300	no	coding-synonymous	ZNF184	NM_007149.2		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		357/752	27420267	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	7738				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:27420267C>T	U66561	CCDS4624.1	6p21.3	2013-01-08	2006-06-28		ENSG00000096654	ENSG00000096654		"Zinc fingers, C2H2-type", "-"	12975	protein-coding gene	gene with protein product		602277	"zinc finger protein 184 (Kruppel-like)"				Standard	NM_007149		Approved		uc003nji.3	Q99676	OTTHUMG00000014478	ENST00000211936.6:c.1071G>A	6.37:g.27420267C>T						ZNF184_ENST00000377419.1_Silent_p.T357T	p.T357T	NM_007149.2	NP_009080.2	Q99676	ZN184_HUMAN			6	1355	-			357					B2R715|O60792|Q8TBA9	Silent	SNP	ENST00000211936.6	37	c.1071G>A	CCDS4624.1																																																																																				0.378	ZNF184-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040146.1	NM_007149		32	45	0	0	0	1	0	32	45					T	27420267	C	T	27420267	2	4	435	1	0	0	0	0	0	0	0	1	17748	639	23	2		2	ZNF184	6	27420267	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	1027593	27420267	143694800	3051	23976											
ZNF184	7738	broad.mit.edu	37	chr6	27421019	27421019	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctctggggctgacacactatTttcaagtcttgtctcccagt	7	14	8	12	0	4	1	1	1	3	0	5	1	4	1	1	2	0	1	1	2	2	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:27421019T>C	ENST00000211936.6	-	6	603	c.319A>G	c.(319-321)Aat>Gat	p.N107D	ZNF184_ENST00000377419.1_Missense_Mutation_p.N107D	NM_007149.2	NP_009080.2	Q99676	ZN184_HUMAN	zinc finger protein 184	107					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(4)|kidney(9)|large_intestine(13)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	48						GACACACTATTTTCAAGTCTT	0.363																																						ENST00000211936.6																			0				breast(1)|cervix(1)|endometrium(4)|kidney(9)|large_intestine(13)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	48						c.(319-321)Aat>Gat		zinc finger protein 184							48	51	50					6																	27421019		2201	4299	6500	SO:0001583	missense	7738				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:27421019T>C	U66561	CCDS4624.1	6p21.3	2013-01-08	2006-06-28		ENSG00000096654	ENSG00000096654		"Zinc fingers, C2H2-type", "-"	12975	protein-coding gene	gene with protein product		602277	"zinc finger protein 184 (Kruppel-like)"				Standard	NM_007149		Approved		uc003nji.3	Q99676	OTTHUMG00000014478	ENST00000211936.6:c.319A>G	6.37:g.27421019T>C	ENSP00000211936:p.Asn107Asp					ZNF184_ENST00000377419.1_Missense_Mutation_p.N107D	p.N107D	NM_007149.2	NP_009080.2	Q99676	ZN184_HUMAN			6	603	-			107					B2R715|O60792|Q8TBA9	Missense_Mutation	SNP	ENST00000211936.6	37	c.319A>G	CCDS4624.1	.	.	.	.	.	.	.	.	.	.	T	11.40	1.627839	0.28978	.	.	ENSG00000096654	ENST00000211936;ENST00000377419;ENST00000341087	T;T	0.06294	3.32;3.32	5.33	0.209	0.15226	.	0.379380	0.22866	N	0.054685	T	0.01029	0.0034	N	0.19112	0.55	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.47407	-0.9120	10	0.27785	T	0.31	.	5.305	0.15799	0.0:0.2244:0.14:0.6356	.	107	Q99676	ZN184_HUMAN	D	107	ENSP00000211936:N107D;ENSP00000366636:N107D	ENSP00000211936:N107D	N	-	1	0	ZNF184	27528998	0.004000	0.15560	0.007000	0.13788	0.605000	0.37080	0.084000	0.14891	-0.091000	0.12440	0.459000	0.35465	AAT		0.363	ZNF184-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040146.1	NM_007149		6	55	0	0	0	1	0	6	55					C	27421019	T	C	27421019	3	2	435	1	0	0	0	0	1	0	0	0	17748	1841	64	4	1940	4	ZNF184	6	27421019	Missense_Mutation	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	752	27421019	143694048	3052	23977											
HIST1H3J	8356	broad.mit.edu	37	chr6	27858182	27858182	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atgctcgctcgccacggataCgacgcgcaagctggatgtcc	8	7	12	14	6	0	0	0	0	0	0	3	3	1	2	2	2	3	4	2	2	2	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:27858182C>T	ENST00000359303.2	-	1	388	c.389G>A	c.(388-390)cGt>cAt	p.R130H	HIST1H3J_ENST00000479986.1_5'Flank	NM_003535.2	NP_003526.1	P68431	H31_HUMAN	histone cluster 1, H3j	130					blood coagulation (GO:0007596)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|regulation of gene silencing (GO:0060968)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(3)|ovary(1)|prostate(1)	8						GCCACGGATACGACGCGCAAG	0.502																																						ENST00000359303.2																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|lung(3)|ovary(1)|prostate(1)	8						c.(388-390)cGt>cAt		histone cluster 1, H3j							62	63	62					6																	27858182		2203	4300	6503	SO:0001583	missense	8356				blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding	g.chr6:27858182C>T	Z83737	CCDS4638.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000197153	ENSG00000197153		"Histones / Replication-dependent"	4774	protein-coding gene	gene with protein product		602817	"H3 histone family, member J", "histone 1, H3j"	H3FJ		9439656, 12408966	Standard	NM_003535		Approved	H3/j	uc003nka.3	P68431	OTTHUMG00000016185	ENST00000359303.2:c.389G>A	6.37:g.27858182C>T	ENSP00000352252:p.Arg130His						p.R130H	NM_003535.2	NP_003526.1	P68431	H31_HUMAN			1	388	-			130					A0PJT7|A5PLR1|P02295|P02296|P16106|Q6ISV8|Q6NWP8|Q6NWP9|Q6NXU4|Q71DJ3|Q93081	Missense_Mutation	SNP	ENST00000359303.2	37	c.389G>A	CCDS4638.1	.	.	.	.	.	.	.	.	.	.	C	11.57	1.678691	0.29783	.	.	ENSG00000197153	ENST00000359303	T	0.75154	-0.91	4.06	4.06	0.47325	.	.	.	.	.	T	0.79257	0.4415	.	.	.	0.49798	D	0.999828	.	.	.	.	.	.	T	0.80567	-0.1325	6	0.54805	T	0.06	.	16.036	0.80628	0.0:1.0:0.0:0.0	.	.	.	.	H	130	ENSP00000352252:R130H	ENSP00000352252:R130H	R	-	2	0	HIST1H3J	27966161	1.000000	0.71417	1.000000	0.80357	0.006000	0.05464	5.616000	0.67709	2.560000	0.86352	0.655000	0.94253	CGT		0.502	HIST1H3J-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043453.2	NM_003535		6	31	0	0	0	1	0	6	31					T	27858182	C	T	27858182	3	4	435	1	0	0	0	0	1	0	0	0	7164	536	19	1	25	1	HIST1H3J	6	27858182	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	437163	27858182	143256885	3053	23978											
OR2B2	81697	broad.mit.edu	37	chr6	27879581	27879581	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acagaagaagtgatccacttCtttgtgaccacacagtggca	13	9	9	10	0	1	4	0	2	1	2	2	4	2	4	2	1	0	1	2	1	2	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:27879581C>A	ENST00000303324.2	-	1	593	c.517G>T	c.(517-519)Gaa>Taa	p.E173*		NM_033057.2	NP_149046.2	Q9GZK3	OR2B2_HUMAN	olfactory receptor, family 2, subfamily B, member 2	173						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(1)|endometrium(4)|large_intestine(5)|lung(10)|prostate(1)|urinary_tract(1)	22						TGATCCACTTCTTTGTGACCA	0.463																																						ENST00000303324.2																			0				cervix(1)|endometrium(4)|large_intestine(5)|lung(10)|prostate(1)|urinary_tract(1)	22						c.(517-519)Gaa>Taa		olfactory receptor, family 2, subfamily B, member 2							93	87	89					6																	27879581		2203	4300	6503	SO:0001587	stop_gained	81697				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr6:27879581C>A	Z98744	CCDS4641.1	6p22.3-p21.3	2014-02-19	2002-02-28		ENSG00000168131	ENSG00000168131		"GPCR / Class A : Olfactory receptors"	13966	protein-coding gene	gene with protein product			"olfactory receptor, family 2, subfamily B, member 9"	OR2B9			Standard	NM_033057		Approved	hs6M1-10, OR6-1, OR2B2Q	uc011dkw.2	Q9GZK3	OTTHUMG00000014495	ENST00000303324.2:c.517G>T	6.37:g.27879581C>A	ENSP00000304419:p.Glu173*						p.E173*	NM_033057.2	NP_149046.2	Q9GZK3	OR2B2_HUMAN			1	593	-			173					B2RNH2|Q9GZL2|Q9Y299	Nonsense_Mutation	SNP	ENST00000303324.2	37	c.517G>T	CCDS4641.1	.	.	.	.	.	.	.	.	.	.	C	11.28	1.593458	0.28357	.	.	ENSG00000168131	ENST00000303324	.	.	.	4.42	3.55	0.40652	.	0.382381	0.18800	U	0.130817	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.06236	T	0.91	.	6.7534	0.23499	0.0:0.7185:0.1804:0.101	.	.	.	.	X	173	.	ENSP00000304419:E173X	E	-	1	0	OR2B2	27987560	0.000000	0.05858	0.472000	0.27241	0.017000	0.09413	-0.924000	0.03996	1.143000	0.42306	0.563000	0.77884	GAA		0.463	OR2B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040163.1			35	30	1	0	3.76114e-14	1	4.09844e-14	35	30					A	27879581	C	A	27879581	4	1	435	1	0	0	0	0	0	1	0	0	10989	922	32	5	560	5	OR2B2	6	27879581	Nonsense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	21399	27879581	143235486	3054	23979											
OR2B6	26212	broad.mit.edu	37	chr6	27925427	27925427	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tccattactcagttatcatgCaccagagactctgcctccag	10	11	6	14	0	3	1	2	0	1	1	5	2	5	1	4	0	3	2	4	0	2	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:27925427C>T	ENST00000244623.1	+	1	409	c.409C>T	c.(409-411)Cac>Tac	p.H137Y		NM_012367.1	NP_036499.1	P58173	OR2B6_HUMAN	olfactory receptor, family 2, subfamily B, member 6	137						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|large_intestine(3)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						AGTTATCATGCACCAGAGACT	0.498																																						ENST00000244623.1																			0				endometrium(1)|large_intestine(3)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(409-411)Cac>Tac		olfactory receptor, family 2, subfamily B, member 6							102	103	103					6																	27925427		2203	4300	6503	SO:0001583	missense	26212				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr6:27925427C>T	U86275	CCDS4642.1	6p22.1	2012-08-09			ENSG00000124657	ENSG00000124657		"GPCR / Class A : Olfactory receptors"	8241	protein-coding gene	gene with protein product				OR2B6P, OR2B1, OR2B1P, OR2B5		9500546	Standard	NM_012367		Approved	OR6-31, dJ408B20.2, OR5-40, OR5-41	uc011dkx.2	P58173	OTTHUMG00000014497	ENST00000244623.1:c.409C>T	6.37:g.27925427C>T	ENSP00000244623:p.His137Tyr						p.H137Y	NM_012367.1	NP_036499.1	P58173	OR2B6_HUMAN			1	409	+			137					O43883|Q6IF89|Q9H5B0	Missense_Mutation	SNP	ENST00000244623.1	37	c.409C>T	CCDS4642.1	.	.	.	.	.	.	.	.	.	.	c	14.36	2.511043	0.44660	.	.	ENSG00000124657	ENST00000244623	T	0.37235	1.21	3.68	3.68	0.42216	GPCR, rhodopsin-like superfamily (1);	0.000000	0.35646	U	0.003062	T	0.36690	0.0976	M	0.79475	2.455	0.32524	N	0.535879	P	0.50819	0.939	P	0.52598	0.703	T	0.39502	-0.9611	10	0.72032	D	0.01	.	9.1642	0.37041	0.2181:0.7819:0.0:0.0	.	137	P58173	OR2B6_HUMAN	Y	137	ENSP00000244623:H137Y	ENSP00000244623:H137Y	H	+	1	0	OR2B6	28033406	0.693000	0.27728	1.000000	0.80357	0.451000	0.32288	0.407000	0.21049	1.964000	0.57103	0.563000	0.77884	CAC		0.498	OR2B6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040165.1			38	79	0	0	0	1	0	38	79					T	27925427	C	T	27925427	3	4	435	1	0	0	0	0	1	0	0	0	10991	710	25	3	411	3	OR2B6	6	27925427	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	45846	27925427	143189640	3055	23980											
OR2B6	26212	broad.mit.edu	37	chr6	27925441	27925441	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	atcatgcaccagagactctgCctccagttggcagctgcatc	9	9	9	14	0	2	1	1	0	1	1	4	2	3	1	3	1	4	5	3	1	0	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:27925441C>T	ENST00000244623.1	+	1	423	c.423C>T	c.(421-423)tgC>tgT	p.C141C		NM_012367.1	NP_036499.1	P58173	OR2B6_HUMAN	olfactory receptor, family 2, subfamily B, member 6	141						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.C141*(1)		endometrium(1)|large_intestine(3)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						AGAGACTCTGCCTCCAGTTGG	0.498																																						ENST00000244623.1																			1	Substitution - Nonsense(1)	p.C141*(1)	lung(1)	endometrium(1)|large_intestine(3)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(421-423)tgC>tgT		olfactory receptor, family 2, subfamily B, member 6							106	107	107					6																	27925441		2203	4300	6503	SO:0001819	synonymous_variant	26212				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr6:27925441C>T	U86275	CCDS4642.1	6p22.1	2012-08-09			ENSG00000124657	ENSG00000124657		"GPCR / Class A : Olfactory receptors"	8241	protein-coding gene	gene with protein product				OR2B6P, OR2B1, OR2B1P, OR2B5		9500546	Standard	NM_012367		Approved	OR6-31, dJ408B20.2, OR5-40, OR5-41	uc011dkx.2	P58173	OTTHUMG00000014497	ENST00000244623.1:c.423C>T	6.37:g.27925441C>T							p.C141C	NM_012367.1	NP_036499.1	P58173	OR2B6_HUMAN			1	423	+			141					O43883|Q6IF89|Q9H5B0	Silent	SNP	ENST00000244623.1	37	c.423C>T	CCDS4642.1																																																																																				0.498	OR2B6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040165.1			46	77	0	0	0	1	0	46	77					T	27925441	C	T	27925441	2	4	435	1	0	0	0	0	0	0	0	1	10991	747	26	3		3	OR2B6	6	27925441	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	14	27925441	143189626	3056	23981											
ZNF192	7745	broad.mit.edu	37	chr6	28116402	28116402	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gagaagctctgatccaactaCgggccctttgccatcagtgg	9	9	11	12	1	2	2	1	1	1	1	3	3	3	2	3	2	4	1	3	2	3	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:28116402C>T	ENST00000330236.6	+	2	401	c.217C>T	c.(217-219)Cgg>Tgg	p.R73W	ZKSCAN8_ENST00000457389.2_Missense_Mutation_p.R73W	NM_001278119.1|NM_001278121.1|NM_001278122.1|NM_006298.2	NP_001265048.1|NP_001265050.1|NP_001265051.1|NP_006289.2	Q15776	ZKSC8_HUMAN	zinc finger with KRAB and SCAN domains 8	73	SCAN box. {ECO:0000255|PROSITE- ProRule:PRU00187}.				transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)										GATCCAACTACGGGCCCTTTG	0.552																																						ENST00000330236.6																			0											c.(217-219)Cgg>Tgg		zinc finger with KRAB and SCAN domains 8							88	82	84					6																	28116402		2203	4300	6503	SO:0001583	missense	0							g.chr6:28116402C>T		CCDS4645.1	6p21	2013-01-09	2013-01-09	2013-01-09	ENSG00000198315	ENSG00000198315		"Zinc fingers, C2H2-type", "-", "-", "-"	12983	protein-coding gene	gene with protein product		602240	"zinc finger protein 192"	ZNF192			Standard	NM_001278119		Approved	LD5-1, ZSCAN40	uc003nkn.2	Q15776	OTTHUMG00000014510	ENST00000330236.6:c.217C>T	6.37:g.28116402C>T	ENSP00000332750:p.Arg73Trp					ZKSCAN8_ENST00000457389.2_Missense_Mutation_p.R73W	p.R73W	NM_001278119.1|NM_001278121.1|NM_001278122.1|NM_006298.2	NP_001265048.1|NP_001265050.1|NP_001265051.1|NP_006289.2					2	401	+								A1L3D4|B4DYF1|Q4VAR1|Q4VAR2|Q4VAR3|Q9H4T1	Missense_Mutation	SNP	ENST00000330236.6	37	c.217C>T	CCDS4645.1	.	.	.	.	.	.	.	.	.	.	C	25.7	4.660688	0.88154	.	.	ENSG00000198315	ENST00000330236;ENST00000457389;ENST00000536028	T;T;T	0.05447	3.44;3.44;3.44	5.13	5.13	0.70059	Retrovirus capsid, C-terminal (1);Transcription regulator SCAN (3);	0.000000	0.46758	D	0.000278	T	0.12008	0.0292	L	0.41710	1.295	0.44061	D	0.9968	D	0.89917	1.0	D	0.87578	0.998	T	0.01578	-1.1320	10	0.62326	D	0.03	.	16.3626	0.83275	0.0:1.0:0.0:0.0	.	73	Q15776	ZN192_HUMAN	W	73	ENSP00000332750:R73W;ENSP00000402948:R73W;ENSP00000439117:R73W	ENSP00000332750:R73W	R	+	1	2	ZNF192	28224381	0.634000	0.27190	1.000000	0.80357	0.977000	0.68977	2.324000	0.43831	2.771000	0.95319	0.563000	0.77884	CGG		0.552	ZKSCAN8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040178.2			18	31	0	0	0	1	0	18	31					T	28116402	C	T	28116402	3	4	435	1	0	0	0	0	1	0	0	0	17753	527	19	1	219	1	ZNF192	6	28116402	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	190961	28116402	142998665	3057	23982											
NKAPL	222698	broad.mit.edu	37	chr6	28227632	28227632	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaggatgaagaagaggtaacGcatcagaaaagcagcagttc	17	5	13	6	1	1	4	1	1	0	3	2	6	1	5	0	2	3	5	0	2	5	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:28227632G>A	ENST00000343684.3	+	1	535	c.483G>A	c.(481-483)acG>acA	p.T161T	ZKSCAN4_ENST00000423974.2_5'Flank	NM_001007531.1	NP_001007532.1	Q5M9Q1	NKAPL_HUMAN	NFKB activating protein-like	161										breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31						AAGAGGTAACGCATCAGAAAA	0.453																																						ENST00000343684.3																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31						c.(481-483)acG>acA		NFKB activating protein-like							70	78	75					6																	28227632		2203	4300	6503	SO:0001819	synonymous_variant	222698							g.chr6:28227632G>A	BC038240	CCDS34353.1	6p21.33	2008-02-05	2007-08-16	2007-08-16	ENSG00000189134	ENSG00000189134			21584	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 194"	C6orf194			Standard	NM_001007531		Approved	bA424I5.1	uc003nkt.4	Q5M9Q1	OTTHUMG00000014517	ENST00000343684.3:c.483G>A	6.37:g.28227632G>A							p.T161T	NM_001007531.1	NP_001007532.1	Q5M9Q1	NKAPL_HUMAN			1	535	+			161					Q3MIV1|Q9H4Q7	Silent	SNP	ENST00000343684.3	37	c.483G>A	CCDS34353.1																																																																																				0.453	NKAPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040185.1			12	75	0	0	0	1	0	12	75					A	28227632	G	A	28227632	2	1	435	1	0	0	0	0	0	0	0	1	10440	1074	38	1		1	NKAPL	6	28227632	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	111230	28227632	142887435	3058	23983											
TRIM27	5987	broad.mit.edu	37	chr6	28891196	28891196	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	taccagttgggtcacgttggCcaggtgccggttgggccgca	5	9	16	11	3	1	0	1	0	0	0	1	0	1	0	4	5	2	4	4	5	1	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:28891196C>T	ENST00000377199.3	-	1	570	c.214G>A	c.(214-216)Gcc>Acc	p.A72T	TRIM27_ENST00000498117.1_5'Flank|TRIM27_ENST00000377194.3_Missense_Mutation_p.A72T	NM_006510.4	NP_006501.1	P14373	TRI27_HUMAN	tripartite motif containing 27	72					Arp2/3 complex-mediated actin nucleation (GO:0034314)|cell proliferation (GO:0008283)|innate immune response (GO:0045087)|interferon-gamma secretion (GO:0072643)|negative regulation of adaptive immune response (GO:0002820)|negative regulation of calcium ion import (GO:0090281)|negative regulation of gene expression, epigenetic (GO:0045814)|negative regulation of interleukin-2 secretion (GO:1900041)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of tumor necrosis factor production (GO:0032720)|negative regulation of viral release from host cell (GO:1902187)|negative regulation of viral transcription (GO:0032897)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein K63-linked ubiquitination (GO:0070534)|protein trimerization (GO:0070206)|retrograde transport, endosome to Golgi (GO:0042147)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(2)|lung(6)|ovary(1)	10						GTCACGTTGGCCAGGTGCCGG	0.706			T	RET	papillary thyroid																																	ENST00000377199.3				Dom	yes		6	6p22	5987	T	tripartite motif-containing 27			E	RET		papillary thyroid		0				endometrium(1)|large_intestine(2)|lung(6)|ovary(1)	10						c.(214-216)Gcc>Acc		tripartite motif containing 27							27	26	26					6																	28891196		2198	4299	6497	SO:0001583	missense	5987				cell proliferation|negative regulation of gene expression, epigenetic|negative regulation of transcription from RNA polymerase II promoter|protein trimerization|spermatogenesis|transcription, DNA-dependent	cytoplasm|integral to plasma membrane|membrane fraction|nuclear membrane|PML body	DNA binding|protein binding|transmembrane receptor protein tyrosine kinase activity|zinc ion binding	g.chr6:28891196C>T	Z58939	CCDS4654.1	6p22	2013-01-09	2011-01-25	2006-09-26	ENSG00000204713	ENSG00000204713		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	9975	protein-coding gene	gene with protein product		602165	"ret finger protein", "tripartite motif-containing 27"	RFP		8114113	Standard	NM_006510		Approved	RNF76	uc003nlr.3	P14373	OTTHUMG00000031215	ENST00000377199.3:c.214G>A	6.37:g.28891196C>T	ENSP00000366404:p.Ala72Thr					TRIM27_ENST00000377194.3_Missense_Mutation_p.A72T	p.A72T	NM_006510.4	NP_006501.1	P14373	TRI27_HUMAN			1	570	-			72					A2BE15|Q5RJA8|Q5ST26|Q6LA73|Q6NXR9|Q9BZY6|Q9UJL3	Missense_Mutation	SNP	ENST00000377199.3	37	c.214G>A	CCDS4654.1	.	.	.	.	.	.	.	.	.	.	C	17.48	3.400510	0.62177	.	.	ENSG00000204713	ENST00000377199;ENST00000377194	D;D	0.84589	-1.87;-1.87	4.48	3.61	0.41365	Zinc finger, RING/FYVE/PHD-type (1);	0.000000	0.46442	D	0.000300	T	0.70789	0.3264	M	0.73372	2.23	0.32814	D	0.501775	B;P;B	0.46020	0.01;0.871;0.02	B;B;B	0.31751	0.002;0.135;0.002	T	0.73088	-0.4093	10	0.72032	D	0.01	.	10.8404	0.46710	0.0:0.9028:0.0:0.0972	.	139;72;72	Q59EC6;P14373-2;P14373	.;.;TRI27_HUMAN	T	72	ENSP00000366404:A72T;ENSP00000366399:A72T	ENSP00000366399:A72T	A	-	1	0	TRIM27	28999175	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	1.944000	0.40263	1.190000	0.43042	0.555000	0.69702	GCC		0.706	TRIM27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076442.2	NM_030950		8	14	0	0	0	1	0	8	14					T	28891196	C	T	28891196	3	4	435	1	0	0	0	0	1	0	0	0	16498	739	26	3	1359	3	TRIM27	6	28891196	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	663564	28891196	142223871	3059	23984											
OR5V1	81696	broad.mit.edu	37	chr6	29323599	29323599	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	accttaaaggattgcagattGcaatgtaacgatcatatgcc	14	11	8	8	1	1	1	1	0	0	1	1	3	1	2	2	1	4	3	2	1	5	5	rs571143775	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:29323599G>A	ENST00000377154.1	-	4	673	c.374C>T	c.(373-375)gCa>gTa	p.A125V	OR5V1_ENST00000543825.1_Missense_Mutation_p.A125V			Q9UGF6	OR5V1_HUMAN	olfactory receptor, family 5, subfamily V, member 1	125						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|kidney(3)|large_intestine(3)|liver(1)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						ATTGCAGATTGCAATGTAACG	0.418													G|||	2	0.000399361	0.0015	0	5008	,	,		21180	0		0	False		,,,				2504	0				Ovarian(32;43 883 21137 32120 42650)	ENST00000377154.1																			0				breast(1)|kidney(3)|large_intestine(3)|liver(1)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						c.(373-375)gCa>gTa		olfactory receptor, family 5, subfamily V, member 1							73	73	73					6																	29323599		2203	4299	6502	SO:0001583	missense	81696				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr6:29323599G>A		CCDS4657.1	6p22.1	2013-09-23				ENSG00000243729		"GPCR / Class A : Olfactory receptors"	13972	protein-coding gene	gene with protein product							Standard	NM_030876		Approved	hs6M1-21	uc011dlo.2	Q9UGF6		ENST00000377154.1:c.374C>T	6.37:g.29323599G>A	ENSP00000366359:p.Ala125Val					OR5V1_ENST00000543825.1_Missense_Mutation_p.A125V	p.A125V			Q9UGF6	OR5V1_HUMAN			4	673	-			125					A2BDZ0|B0S860|Q5SQI9|Q6NTB5|Q8IVL3	Missense_Mutation	SNP	ENST00000377154.1	37	c.374C>T	CCDS4657.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.317436	0.81469	.	.	ENSG00000243729	ENST00000377154;ENST00000377151;ENST00000543825	T;T	0.01228	5.14;5.14	4.37	4.37	0.52481	GPCR, rhodopsin-like superfamily (1);	0.000000	0.32719	N	0.005722	T	0.08891	0.0220	M	0.94101	3.495	0.48185	D	0.9996	D	0.89917	1.0	D	0.85130	0.997	T	0.02860	-1.1101	10	0.87932	D	0	-47.1557	17.0395	0.86484	0.0:0.0:1.0:0.0	.	125	Q9UGF6	OR5V1_HUMAN	V	125	ENSP00000366359:A125V;ENSP00000443309:A125V	ENSP00000366356:A125V	A	-	2	0	OR5V1	29431578	1.000000	0.71417	0.202000	0.23494	0.693000	0.40251	8.520000	0.90566	2.422000	0.82143	0.543000	0.68304	GCA		0.418	OR5V1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076398.3			8	46	0	0	0	1	0	8	46					A	29323599	G	A	29323599	3	1	435	1	0	0	0	0	1	0	0	0	11184	1319	46	3	594	3	OR5V1	6	29323599	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	432403	29323599	141791468	3060	23985											
GABBR1	2550	broad.mit.edu	37	chr6	29599295	29599295	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctcatagtccactggcaggAagttgatagccttcacctgg	9	11	10	11	0	2	1	2	1	1	0	4	2	3	2	3	3	1	2	3	3	3	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:29599295A>T	ENST00000377034.4	-	3	502	c.167T>A	c.(166-168)tTc>tAc	p.F56Y	GABBR1_ENST00000377016.4_Missense_Mutation_p.F56Y|GABBR1_ENST00000376977.3_Missense_Mutation_p.F56Y	NM_001470.2	NP_001461.1	Q9UBS5	GABR1_HUMAN	gamma-aminobutyric acid (GABA) B receptor, 1	56	Sushi 1. {ECO:0000255|PROSITE- ProRule:PRU00302}.				adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|gamma-aminobutyric acid signaling pathway (GO:0007214)|negative regulation of adenylate cyclase activity (GO:0007194)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|G-protein coupled receptor heterodimeric complex (GO:0038039)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	G-protein coupled GABA receptor activity (GO:0004965)			endometrium(3)|kidney(1)|large_intestine(13)|liver(1)|lung(16)|ovary(5)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47					Baclofen(DB00181)|Progabide(DB00837)|Vigabatrin(DB01080)	CACTGGCAGGAAGTTGATAGC	0.627																																						ENST00000377034.4																			0				endometrium(3)|kidney(1)|large_intestine(13)|liver(1)|lung(16)|ovary(5)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						c.(166-168)tTc>tAc		gamma-aminobutyric acid (GABA) B receptor, 1	Baclofen(DB00181)|Progabide(DB00837)						97	103	101					6																	29599295		2203	4300	6503	SO:0001583	missense	0				gamma-aminobutyric acid signaling pathway|negative regulation of adenylate cyclase activity|synaptic transmission	cell junction|extracellular region|integral to plasma membrane|postsynaptic membrane	G-protein coupled receptor activity|GABA-B receptor activity	g.chr6:29599295A>T	Y11044	CCDS4663.1, CCDS4664.1, CCDS4665.1	6p21.3	2012-08-29			ENSG00000204681	ENSG00000204681		"GABA receptors", "GPCR / Class C : GABA(B) receptors"	4070	protein-coding gene	gene with protein product	"GABA-B receptor"	603540				9753614, 9798068	Standard	NM_001470		Approved	hGB1a, GPRC3A	uc003nmt.4	Q9UBS5	OTTHUMG00000031095	ENST00000377034.4:c.167T>A	6.37:g.29599295A>T	ENSP00000366233:p.Phe56Tyr					GABBR1_ENST00000377016.4_Missense_Mutation_p.F56Y|GABBR1_ENST00000376977.3_Missense_Mutation_p.F56Y	p.F56Y	NM_001470.2	NP_001461.1	Q9UBS5	GABR1_HUMAN			3	502	-			56			Sushi 1.		B0UXY7|O95375|O95468|O95975|O96022|Q5STL4|Q5SUJ8|Q5SUL3|Q71SG6|Q86W60|Q9UQQ0	Missense_Mutation	SNP	ENST00000377034.4	37	c.167T>A	CCDS4663.1	.	.	.	.	.	.	.	.	.	.	A	23.8	4.461787	0.84425	.	.	ENSG00000204681	ENST00000376977;ENST00000377016;ENST00000377034;ENST00000462632;ENST00000476670	T;D;T;T;T	0.82893	-0.05;-1.66;-0.05;-0.05;-0.05	4.49	4.49	0.54785	Complement control module (1);Sushi/SCR/CCP (2);	0.310861	0.29900	N	0.010919	T	0.54615	0.1869	N	0.08118	0	0.26685	N	0.971463	P;P;P	0.52316	0.775;0.952;0.784	B;B;B	0.42495	0.199;0.352;0.389	T	0.57808	-0.7747	10	0.66056	D	0.02	-16.7921	11.8141	0.52199	1.0:0.0:0.0:0.0	.	56;56;56	Q9UBS5-5;Q9UBS5-3;Q9UBS5	.;.;GABR1_HUMAN	Y	56;56;56;56;61	ENSP00000366176:F56Y;ENSP00000366215:F56Y;ENSP00000366233:F56Y;ENSP00000419755:F56Y;ENSP00000417332:F61Y	ENSP00000366176:F56Y	F	-	2	0	GABBR1	29707274	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	8.499000	0.90494	1.680000	0.50976	0.374000	0.22700	TTC		0.627	GABBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076141.3			42	47	0	0	0	1	0	42	47					T	29599295	A	T	29599295	3	4	435	1	0	0	0	0	1	0	0	0	6155	246	9	5	2947	5	GABBR1	6	29599295	Missense_Mutation	SNP	A	TCGA-XK-AAIW-01A-11D-A41K-08	275696	29599295	141515772	3061	23986											
GABBR1	2550	broad.mit.edu	37	chr6	29599357	29599357	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgatgcccccttcccagggCgggtgtatgatctggcaacc	6	9	12	14	1	1	2	0	2	1	0	2	2	2	2	4	3	2	2	4	3	2	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:29599357C>T	ENST00000377034.4	-	3	440	c.105G>A	c.(103-105)ccG>ccA	p.P35P	GABBR1_ENST00000377016.4_Silent_p.P35P|GABBR1_ENST00000376977.3_Silent_p.P35P	NM_001470.2	NP_001461.1	Q9UBS5	GABR1_HUMAN	gamma-aminobutyric acid (GABA) B receptor, 1	35	Sushi 1. {ECO:0000255|PROSITE- ProRule:PRU00302}.				adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|gamma-aminobutyric acid signaling pathway (GO:0007214)|negative regulation of adenylate cyclase activity (GO:0007194)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|G-protein coupled receptor heterodimeric complex (GO:0038039)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	G-protein coupled GABA receptor activity (GO:0004965)			endometrium(3)|kidney(1)|large_intestine(13)|liver(1)|lung(16)|ovary(5)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47					Baclofen(DB00181)|Progabide(DB00837)|Vigabatrin(DB01080)	CTTCCCAGGGCGGGTGTATGA	0.592																																						ENST00000377034.4																			0				endometrium(3)|kidney(1)|large_intestine(13)|liver(1)|lung(16)|ovary(5)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						c.(103-105)ccG>ccA		gamma-aminobutyric acid (GABA) B receptor, 1	Baclofen(DB00181)|Progabide(DB00837)						60	66	64					6																	29599357		2203	4300	6503	SO:0001819	synonymous_variant	0				gamma-aminobutyric acid signaling pathway|negative regulation of adenylate cyclase activity|synaptic transmission	cell junction|extracellular region|integral to plasma membrane|postsynaptic membrane	G-protein coupled receptor activity|GABA-B receptor activity	g.chr6:29599357C>T	Y11044	CCDS4663.1, CCDS4664.1, CCDS4665.1	6p21.3	2012-08-29			ENSG00000204681	ENSG00000204681		"GABA receptors", "GPCR / Class C : GABA(B) receptors"	4070	protein-coding gene	gene with protein product	"GABA-B receptor"	603540				9753614, 9798068	Standard	NM_001470		Approved	hGB1a, GPRC3A	uc003nmt.4	Q9UBS5	OTTHUMG00000031095	ENST00000377034.4:c.105G>A	6.37:g.29599357C>T						GABBR1_ENST00000377016.4_Silent_p.P35P|GABBR1_ENST00000376977.3_Silent_p.P35P	p.P35P	NM_001470.2	NP_001461.1	Q9UBS5	GABR1_HUMAN			3	440	-			35			Sushi 1.		B0UXY7|O95375|O95468|O95975|O96022|Q5STL4|Q5SUJ8|Q5SUL3|Q71SG6|Q86W60|Q9UQQ0	Silent	SNP	ENST00000377034.4	37	c.105G>A	CCDS4663.1																																																																																				0.592	GABBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076141.3			18	39	0	0	0	1	0	18	39					T	29599357	C	T	29599357	2	4	435	1	0	0	0	0	0	0	0	1	6155	755	27	1		1	GABBR1	6	29599357	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	62	29599357	141515710	3062	23987											
ZFP57	4340	broad.mit.edu	37	chr6	29641216	29641216	+	IGR	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aagggcctctccccaagatgCatgcgtctgtgatagctgag	9	9	12	11	1	2	3	0	2	2	1	3	3	2	3	3	1	3	2	3	1	3	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:29641216C>T	ENST00000376917.3	+	0	2160				ZFP57_ENST00000376881.3_Missense_Mutation_p.M204I|ZFP57_ENST00000488757.1_Missense_Mutation_p.M224I|ZFP57_ENST00000376883.1_Missense_Mutation_p.M204I	NM_002433.4|NM_206809.3	NP_002424.3|NP_996532.2	Q16653	MOG_HUMAN	myelin oligodendrocyte glycoprotein						cell adhesion (GO:0007155)|central nervous system development (GO:0007417)|positive regulation of MyD88-dependent toll-like receptor signaling pathway (GO:0034126)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|skin(2)	19						CCCCAAGATGCATGCGTCTGT	0.547																																						ENST00000376883.1																			0				NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(16)|ovary(4)|skin(4)|urinary_tract(5)	44						c.(610-612)atG>atA		ZFP57 zinc finger protein							89	101	97					6																	29641216		1363	2608	3971	SO:0001628	intergenic_variant	346171				DNA methylation involved in embryo development|regulation of gene expression by genetic imprinting|transcription, DNA-dependent		DNA binding|zinc ion binding	g.chr6:29641216C>T		CCDS4667.1, CCDS34366.1, CCDS34367.1, CCDS34368.1, CCDS34369.1, CCDS34370.1, CCDS47394.1, CCDS47395.1, CCDS47395.2, CCDS54977.1	6p22.1	2014-01-16			ENSG00000204655	ENSG00000204655		"Immunoglobulin superfamily / V-set domain containing", "Butyrophilins"	7197	protein-coding gene	gene with protein product		159465					Standard	NM_002433		Approved	BTN6, BTNL11	uc003nne.3	Q16653	OTTHUMG00000031099		6.37:g.29641216C>T						ZFP57_ENST00000376881.3_Missense_Mutation_p.M204I|ZFP57_ENST00000488757.1_Missense_Mutation_p.M224I	p.M204I			Q9NU63	ZFP57_HUMAN			6	1023	-			140					A6NDR4|A6NNJ9|A8MY31|B0UZR9|E9PGF0|F8W9D5|O00713|O00714|O00715|Q13054|Q13055|Q14855|Q29ZN8|Q56UY0|Q5JNX7|Q5JNY1|Q5JNY2|Q5JNY4|Q5SSB5|Q5SSB6|Q5STL9|Q5STM0|Q5STM1|Q5STM2|Q5STM5|Q5SUK5|Q5SUK7|Q5SUK8|Q5SUK9|Q5SUL0|Q5SUL1|Q8IYG5|Q92891|Q92892|Q92893|Q92894|Q92895|Q93053|Q96KU9|Q96KV0|Q96KV1|Q99605	Missense_Mutation	SNP	ENST00000376917.3	37	c.612G>A	CCDS34370.1	.	.	.	.	.	.	.	.	.	.	C	0.010	-1.792387	0.00623	.	.	ENSG00000204644	ENST00000488757;ENST00000376881;ENST00000376883	T;T;T	0.16743	2.32;2.32;2.32	4.4	0.484	0.16825	.	0.954223	0.08666	N	0.911597	T	0.00936	0.0031	N	0.01015	-1.05	0.09310	N	0.999996	B;B	0.06786	0.001;0.001	B;B	0.04013	0.001;0.001	T	0.47522	-0.9111	10	0.02654	T	1	-0.2227	4.108	0.10045	0.0:0.3668:0.3379:0.2953	.	224;204	Q9NU63-3;Q9NU63-2	.;.	I	224;204;204	ENSP00000418259:M224I;ENSP00000366078:M204I;ENSP00000366080:M204I	ENSP00000366078:M204I	M	-	3	0	ZFP57	29749195	0.000000	0.05858	0.044000	0.18714	0.048000	0.14542	-1.245000	0.02899	0.206000	0.20587	0.650000	0.86243	ATG		0.547	MOG-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000076160.3	NM_002433		27	44	0	0	0	1	0	27	44					T	29641216	C	T	29641216	1	4	435	0	1	0	0	0	0	0	0	0	17648	710	25	3		3	ZFP57	6	29641216	IGR	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	41859	29641216	141473851	3063	23988											
HLA-F	3134	broad.mit.edu	37	chr6	29692036	29692036	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atcaccagcacgcgtacgacGgcaaggattacatctccctg	11	7	9	14	4	2	0	1	0	1	0	3	2	2	1	2	2	3	3	2	2	3	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:29692036G>A	ENST00000376861.1	+	4	805	c.421G>A	c.(421-423)Ggc>Agc	p.G141S	HLA-F_ENST00000434407.2_Missense_Mutation_p.G141S|HLA-F_ENST00000334668.4_Missense_Mutation_p.G141S|HLA-F_ENST00000259951.7_Missense_Mutation_p.G141S|HLA-F_ENST00000440587.2_Missense_Mutation_p.G23S			P30511	HLAF_HUMAN	major histocompatibility complex, class I, F	141	Alpha-2.				antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|regulation of immune response (GO:0050776)|type I interferon signaling pathway (GO:0060337)	early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|membrane (GO:0016020)|MHC class I protein complex (GO:0042612)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)	peptide antigen binding (GO:0042605)|TAP1 binding (GO:0046978)|TAP2 binding (GO:0046979)			cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	8						CGCGTACGACGGCAAGGATTA	0.642																																						ENST00000440587.2																			0				cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	8						c.(67-69)Ggc>Agc		major histocompatibility complex, class I, F							98	98	98					6																	29692036		1510	2709	4219	SO:0001583	missense	3134				antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|regulation of immune response|type I interferon-mediated signaling pathway	integral to membrane|MHC class I protein complex	MHC class I receptor activity	g.chr6:29692036G>A	AY253269	CCDS43437.1, CCDS43438.1, CCDS43439.1	6p21.3	2013-01-11			ENSG00000204642	ENSG00000204642		"Histocompatibility complex", "Immunoglobulin superfamily / C1-set domain containing"	4963	protein-coding gene	gene with protein product		143110				1688605	Standard	NM_018950		Approved		uc003nno.4	P30511	OTTHUMG00000031156	ENST00000376861.1:c.421G>A	6.37:g.29692036G>A	ENSP00000366057:p.Gly141Ser					HLA-F_ENST00000334668.4_Missense_Mutation_p.G141S|HLA-F_ENST00000259951.7_Missense_Mutation_p.G141S|HLA-F_ENST00000434407.2_Missense_Mutation_p.G141S|HLA-F_ENST00000376861.1_Missense_Mutation_p.G141S	p.G23S			P30511	HLAF_HUMAN			3	426	+			141			Alpha-1.		Q5JQI8|Q5JQJ1|Q5SPT5|Q860R0|Q8MGQ1|Q8WLP5|Q95HC0|Q9TP68	Missense_Mutation	SNP	ENST00000376861.1	37	c.67G>A	CCDS43438.1	.	.	.	.	.	.	.	.	.	.	.	17.23	3.337366	0.60963	.	.	ENSG00000204642	ENST00000376861;ENST00000449921;ENST00000334668;ENST00000259951;ENST00000440587;ENST00000434407	T;T;T;T;T	0.00462	7.26;7.26;7.26;7.26;7.26	1.63	1.63	0.23807	MHC class I, alpha chain, alpha1/alpha2 (2);MHC classes I/II-like antigen recognition protein (1);MHC class I-like antigen recognition (1);	0.000000	0.36628	U	0.002493	T	0.00967	0.0032	H	0.97291	3.975	0.09310	N	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;0.991;0.984;0.997	T	0.40961	-0.9535	10	0.87932	D	0	.	6.5823	0.22602	0.0:0.0:1.0:0.0	.	141;141;141;141	A8MVU7;P30511;P30511-3;P30511-2	.;HLAF_HUMAN;.;.	S	141;118;141;141;23;141	ENSP00000366057:G141S;ENSP00000334263:G141S;ENSP00000259951:G141S;ENSP00000404130:G23S;ENSP00000397376:G141S	ENSP00000259951:G141S	G	+	1	0	HLA-F	29800015	0.944000	0.32072	0.095000	0.20976	0.081000	0.17604	3.251000	0.51453	0.871000	0.35750	0.436000	0.28706	GGC		0.642	HLA-F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195083.1	NM_018950		16	48	0	0	0	1	0	16	48					A	29692036	G	A	29692036	3	1	435	1	0	0	0	0	1	0	0	0	7211	1116	39	2	431	2	HLA-F	6	29692036	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	50820	29692036	141423031	3064	23989											
HLA-G	3135	broad.mit.edu	37	chr6	29797302	29797302	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agatcatactgacctggcagCgggatggggaggaccagacc	11	5	15	10	1	1	3	1	1	0	2	1	6	1	6	3	5	2	1	3	5	1	1	rs45530733		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:29797302C>T	ENST00000360323.6	+	4	751	c.727C>T	c.(727-729)Cgg>Tgg	p.R243W	HLA-G_ENST00000376828.2_Missense_Mutation_p.R248W|HLA-G_ENST00000376818.3_Missense_Mutation_p.R151W|HLA-G_ENST00000428701.1_Missense_Mutation_p.R243W|HLA-G_ENST00000376815.3_Intron			P17693	HLAG_HUMAN	major histocompatibility complex, class I, G	243	Alpha-3.|Ig-like C1-type.				antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular defense response (GO:0006968)|cytokine-mediated signaling pathway (GO:0019221)|immune response-inhibiting cell surface receptor signaling pathway (GO:0002767)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of dendritic cell differentiation (GO:2001199)|negative regulation of T cell proliferation (GO:0042130)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of regulatory T cell differentiation (GO:0045591)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|positive regulation of T cell tolerance induction (GO:0002666)|regulation of immune response (GO:0050776)|type I interferon signaling pathway (GO:0060337)	early endosome membrane (GO:0031901)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|membrane (GO:0016020)|MHC class I protein complex (GO:0042612)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)	peptide antigen binding (GO:0042605)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)			central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(4)|ovary(3)|pancreas(1)|prostate(5)|skin(1)	21						GACCTGGCAGCGGGATGGGGA	0.627																																						ENST00000428701.1																			0				central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(4)|ovary(3)|pancreas(1)|prostate(5)|skin(1)	21						c.(727-729)Cgg>Tgg		major histocompatibility complex, class I, G							77	75	76					6																	29797302		2203	4300	6503	SO:0001583	missense	3135				antigen processing and presentation of peptide antigen via MHC class I|cellular defense response|interferon-gamma-mediated signaling pathway|regulation of immune response|type I interferon-mediated signaling pathway	integral to membrane|MHC class I protein complex	MHC class I receptor activity	g.chr6:29797302C>T		CCDS4668.1	6p21.3	2013-01-11	2007-12-12		ENSG00000204632	ENSG00000204632		"Histocompatibility complex", "Immunoglobulin superfamily / C1-set domain containing"	4964	protein-coding gene	gene with protein product	"b2 microglobulin"	142871	"HLA-G histocompatibility antigen, class I, G"				Standard	NM_002127		Approved		uc003nnw.2	P17693	OTTHUMG00000031157	ENST00000360323.6:c.727C>T	6.37:g.29797302C>T	ENSP00000353472:p.Arg243Trp					HLA-G_ENST00000360323.6_Missense_Mutation_p.R243W|HLA-G_ENST00000376815.3_Intron|HLA-G_ENST00000376818.3_Missense_Mutation_p.R151W|HLA-G_ENST00000376828.2_Missense_Mutation_p.R248W	p.R243W	NM_002127.5	NP_002118.1	P17693	HLAG_HUMAN			5	905	+			243			Alpha-3.|Ig-like C1-type.			Missense_Mutation	SNP	ENST00000360323.6	37	c.727C>T	CCDS4668.1	.	.	.	.	.	.	.	.	.	.	.	7.207	0.594675	0.13875	.	.	ENSG00000204632	ENST00000376828;ENST00000428701;ENST00000360323;ENST00000376818	T;T;T;T	0.03181	4.02;4.02;4.02;4.02	1.72	0.801	0.18679	Immunoglobulin-like (1);Immunoglobulin C1-set (2);Immunoglobulin-like fold (1);	0.250293	0.20311	U	0.094837	T	0.07413	0.0187	M	0.87900	2.915	0.21147	N	0.999776	D;D;D	0.89917	1.0;0.997;1.0	D;B;D	0.97110	1.0;0.429;0.958	T	0.09574	-1.0668	10	0.87932	D	0	.	4.0658	0.09859	0.2695:0.4654:0.2651:0.0	rs45530733	248;151;243	Q5RJ85;Q31611;P17693	.;.;HLAG_HUMAN	W	248;243;243;151	ENSP00000366024:R248W;ENSP00000412927:R243W;ENSP00000353472:R243W;ENSP00000366014:R151W	ENSP00000353472:R243W	R	+	1	2	HLA-G	29905281	0.005000	0.15991	0.018000	0.16275	0.033000	0.12548	-0.591000	0.05753	0.081000	0.16988	-0.702000	0.03669	CGG		0.627	HLA-G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076286.2	NM_002127		37	47	0	0	0	1	0	37	47					T	29797302	C	T	29797302	3	4	435	1	0	0	0	0	1	0	0	0	7212	759	27	1	741	1	HLA-G	6	29797302	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	105266	29797302	141317765	3065	23990											
PPP1R11	6992	broad.mit.edu	37	chr6	30036976	30036976	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtggtcatacacactgtgtaCgtggccaccgcaaaggacgg	10	7	13	11	3	1	0	1	0	0	0	1	1	1	1	2	4	2	2	2	4	3	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:30036976C>T	ENST00000376772.3	+	3	597	c.274C>T	c.(274-276)Cgt>Tgt	p.R92C	PPP1R11_ENST00000376758.1_Missense_Mutation_p.R40C|PPP1R11_ENST00000376763.1_Missense_Mutation_p.R40C|PPP1R11_ENST00000376769.2_Missense_Mutation_p.R40C|PPP1R11_ENST00000376765.2_Missense_Mutation_p.R40C|PPP1R11_ENST00000376773.1_Missense_Mutation_p.R40C	NM_021959.2	NP_068778.1	O60927	PP1RB_HUMAN	protein phosphatase 1, regulatory (inhibitor) subunit 11	92						cytoplasm (GO:0005737)	protein phosphatase inhibitor activity (GO:0004864)			lung(2)|ovary(1)|prostate(1)|skin(2)	6						ACACTGTGTACGTGGCCACCG	0.607																																					Pancreas(185;1767 3918 43793)	ENST00000376772.3																			0				lung(2)|ovary(1)|prostate(1)|skin(2)	6						c.(274-276)Cgt>Tgt		protein phosphatase 1, regulatory (inhibitor) subunit 11							79	84	82					6																	30036976		1511	2708	4219	SO:0001583	missense	6992					soluble fraction	protein binding|protein phosphatase inhibitor activity	g.chr6:30036976C>T	X81003	CCDS4671.1	6p21.3	2012-04-17			ENSG00000204619	ENSG00000204619		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	9285	protein-coding gene	gene with protein product		606670		TCTE5		9843442, 8781118	Standard	NM_021959		Approved	HCGV, Tctex5, HCG-V	uc003npb.3	O60927	OTTHUMG00000031260	ENST00000376772.3:c.274C>T	6.37:g.30036976C>T	ENSP00000365963:p.Arg92Cys					PPP1R11_ENST00000376765.2_Missense_Mutation_p.R40C|PPP1R11_ENST00000376763.1_Missense_Mutation_p.R40C|PPP1R11_ENST00000376758.1_Missense_Mutation_p.R40C|PPP1R11_ENST00000376769.2_Missense_Mutation_p.R40C|PPP1R11_ENST00000376773.1_Missense_Mutation_p.R40C	p.R92C	NM_021959.2	NP_068778.1	O60927	PP1RB_HUMAN			3	597	+			92						Missense_Mutation	SNP	ENST00000376772.3	37	c.274C>T	CCDS4671.1	.	.	.	.	.	.	.	.	.	.	C	19.78	3.891288	0.72524	.	.	ENSG00000204619	ENST00000376773;ENST00000376772;ENST00000376769;ENST00000376765;ENST00000376763;ENST00000376758	.	.	.	5.4	4.51	0.55191	.	0.128544	0.53938	D	0.000051	T	0.30386	0.0763	L	0.27053	0.805	0.58432	D	0.999999	D	0.63880	0.993	P	0.47470	0.548	T	0.27872	-1.0061	9	0.87932	D	0	-12.9765	9.3234	0.37977	0.0:0.8955:0.0:0.1045	.	92	O60927	PP1RB_HUMAN	C	40;92;40;40;40;40	.	ENSP00000365949:R40C	R	+	1	0	PPP1R11	30144955	1.000000	0.71417	0.997000	0.53966	0.989000	0.77384	5.999000	0.70665	1.204000	0.43247	0.549000	0.68633	CGT		0.607	PPP1R11-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076557.3	NM_021959		15	28	0	0	0	1	0	15	28					T	30036976	C	T	30036976	3	4	435	1	0	0	0	0	1	0	0	0	12353	536	19	1	284	1	PPP1R11	6	30036976	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	239674	30036976	141078091	3066	23991											
PPP1R11	6992	broad.mit.edu	37	chr6	30036998	30036998	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggccaccgcaaaggacggcGtcgtgcaaccctaggaccga	10	4	13	14	5	0	0	0	0	0	0	1	3	0	2	4	4	2	2	4	4	3	1	rs372960824		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:30036998G>A	ENST00000376772.3	+	3	619	c.296G>A	c.(295-297)cGt>cAt	p.R99H	PPP1R11_ENST00000376758.1_Missense_Mutation_p.R47H|PPP1R11_ENST00000376763.1_Missense_Mutation_p.R47H|PPP1R11_ENST00000376769.2_Missense_Mutation_p.R47H|PPP1R11_ENST00000376765.2_Missense_Mutation_p.R47H|PPP1R11_ENST00000376773.1_Missense_Mutation_p.R47H	NM_021959.2	NP_068778.1	O60927	PP1RB_HUMAN	protein phosphatase 1, regulatory (inhibitor) subunit 11	99						cytoplasm (GO:0005737)	protein phosphatase inhibitor activity (GO:0004864)			lung(2)|ovary(1)|prostate(1)|skin(2)	6						AAAGGACGGCGTCGTGCAACC	0.622													G|||	1	0.000199681	0	0	5008	,	,		13025	0.001		0	False		,,,				2504	0				Pancreas(185;1767 3918 43793)	ENST00000376772.3																			0				lung(2)|ovary(1)|prostate(1)|skin(2)	6						c.(295-297)cGt>cAt		protein phosphatase 1, regulatory (inhibitor) subunit 11		G	HIS/ARG	1,3021		0,1,1510	82	88	86		296	5.1	1	6		86	0,5418		0,0,2709	no	missense	PPP1R11	NM_021959.2	29	0,1,4219	AA,AG,GG		0.0,0.0331,0.0118	probably-damaging	99/127	30036998	1,8439	1511	2709	4220	SO:0001583	missense	6992					soluble fraction	protein binding|protein phosphatase inhibitor activity	g.chr6:30036998G>A	X81003	CCDS4671.1	6p21.3	2012-04-17			ENSG00000204619	ENSG00000204619		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	9285	protein-coding gene	gene with protein product		606670		TCTE5		9843442, 8781118	Standard	NM_021959		Approved	HCGV, Tctex5, HCG-V	uc003npb.3	O60927	OTTHUMG00000031260	ENST00000376772.3:c.296G>A	6.37:g.30036998G>A	ENSP00000365963:p.Arg99His					PPP1R11_ENST00000376765.2_Missense_Mutation_p.R47H|PPP1R11_ENST00000376763.1_Missense_Mutation_p.R47H|PPP1R11_ENST00000376758.1_Missense_Mutation_p.R47H|PPP1R11_ENST00000376769.2_Missense_Mutation_p.R47H|PPP1R11_ENST00000376773.1_Missense_Mutation_p.R47H	p.R99H	NM_021959.2	NP_068778.1	O60927	PP1RB_HUMAN			3	619	+			99						Missense_Mutation	SNP	ENST00000376772.3	37	c.296G>A	CCDS4671.1	.	.	.	.	.	.	.	.	.	.	G	17.34	3.365747	0.61513	3.31E-4	0.0	ENSG00000204619	ENST00000376773;ENST00000376772;ENST00000376769;ENST00000376765;ENST00000376763;ENST00000376758	.	.	.	5.1	5.1	0.69264	.	0.289525	0.39274	N	0.001406	T	0.29556	0.0737	N	0.24115	0.695	0.34538	D	0.709979	B	0.10296	0.003	B	0.04013	0.001	T	0.18178	-1.0345	9	0.48119	T	0.1	-5.7551	14.3752	0.66869	0.0:0.0:1.0:0.0	.	99	O60927	PP1RB_HUMAN	H	47;99;47;47;47;47	.	ENSP00000365949:R47H	R	+	2	0	PPP1R11	30144977	1.000000	0.71417	0.997000	0.53966	0.987000	0.75469	4.298000	0.59067	2.521000	0.84997	0.549000	0.68633	CGT		0.622	PPP1R11-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076557.3	NM_021959		23	25	0	0	0	1	0	23	25					A	30036998	G	A	30036998	3	1	435	1	0	0	0	0	1	0	0	0	12353	1145	40	1	306	1	PPP1R11	6	30036998	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	22	30036998	141078069	3067	23992											
TRIM10	10107	broad.mit.edu	37	chr6	30128254	30128254	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gaagcgcatggtgtgggtagCgtgctccccagcctcccggc	5	7	15	14	3	0	0	0	0	0	0	2	1	2	0	4	3	4	3	4	3	2	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:30128254C>T	ENST00000449742.2	-	1	457	c.382G>A	c.(382-384)Gct>Act	p.A128T	TRIM10_ENST00000376704.3_Missense_Mutation_p.A128T|TRIM15_ENST00000376694.4_5'Flank	NM_006778.3	NP_006769.2	Q9UDY6	TRI10_HUMAN	tripartite motif containing 10	128					erythrocyte differentiation (GO:0030218)|innate immune response (GO:0045087)|negative regulation of viral entry into host cell (GO:0046597)	cytoplasm (GO:0005737)	zinc ion binding (GO:0008270)			ovary(1)	1						GTGTGGGTAGCGTGCTCCCCA	0.577																																						ENST00000449742.2																			0				ovary(1)	1						c.(382-384)Gct>Act		tripartite motif containing 10							81	66	71					6																	30128254		2203	4300	6503	SO:0001583	missense	10107					cytoplasm	zinc ion binding	g.chr6:30128254C>T	Y07829	CCDS4676.1, CCDS34375.1	6p21.3	2013-01-09	2011-01-25	2001-11-23	ENSG00000204613	ENSG00000204613		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	10072	protein-coding gene	gene with protein product		605701	"tripartite motif-containing 10"	RNF9		9271628, 10207104	Standard	NM_052828		Approved	RFB30, HERF1	uc003npo.3	Q9UDY6	OTTHUMG00000031295	ENST00000449742.2:c.382G>A	6.37:g.30128254C>T	ENSP00000397073:p.Ala128Thr					TRIM10_ENST00000376704.3_Missense_Mutation_p.A128T	p.A128T	NM_006778.3	NP_006769.2	Q9UDY6	TRI10_HUMAN			1	457	-			128					A6NF84|Q5SRJ5|Q5SRK8|Q86Z08|Q96QB6|Q9C023|Q9C024	Missense_Mutation	SNP	ENST00000449742.2	37	c.382G>A	CCDS34375.1	.	.	.	.	.	.	.	.	.	.	C	9.019	0.984489	0.18889	.	.	ENSG00000204613	ENST00000449742;ENST00000376704;ENST00000376706	T;T	0.42900	0.96;0.96	5.11	-2.01	0.07410	Zinc finger, B-box (3);	1.392810	0.04623	N	0.402335	T	0.08670	0.0215	N	0.10809	0.05	0.09310	N	1	B;B	0.32829	0.386;0.104	B;B	0.22753	0.041;0.024	T	0.26155	-1.0111	10	0.72032	D	0.01	.	9.2173	0.37355	0.0:0.1337:0.4596:0.4066	.	128;128	Q9UDY6;Q9UDY6-2	TRI10_HUMAN;.	T	128	ENSP00000397073:A128T;ENSP00000365894:A128T	ENSP00000365894:A128T	A	-	1	0	TRIM10	30236233	0.005000	0.15991	0.001000	0.08648	0.001000	0.01503	-0.211000	0.09332	-0.254000	0.09500	-0.275000	0.10095	GCT		0.577	TRIM10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076634.1			17	17	0	0	0	1	0	17	17					T	30128254	C	T	30128254	3	4	435	1	0	0	0	0	1	0	0	0	16483	768	27	1	1179	1	TRIM10	6	30128254	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	91256	30128254	140986813	3068	23993											
TRIM15	89870	broad.mit.edu	37	chr6	30131521	30131521	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctgcctgtaccctctgtgcGgggccgctggaggatgcggt	3	9	16	13	3	1	0	0	0	1	0	1	2	1	2	4	5	4	2	4	5	1	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:30131521G>A	ENST00000376694.4	+	1	529	c.60G>A	c.(58-60)gcG>gcA	p.A20A	TRIM10_ENST00000376704.3_5'Flank|TRIM10_ENST00000449742.2_5'Flank|TRIM15_ENST00000376688.1_Silent_p.A20A	NM_033229.2	NP_150232.2	Q9C019	TRI15_HUMAN	tripartite motif containing 15	20					innate immune response (GO:0045087)|mesodermal cell fate determination (GO:0007500)|negative regulation of intracellular transport of viral material (GO:1901253)|negative regulation of viral release from host cell (GO:1902187)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of RIG-I signaling pathway (GO:1900246)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of type I interferon production (GO:0032481)	intracellular (GO:0005622)	zinc ion binding (GO:0008270)			large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(1)	14						CCCTCTGTGCGGGGCCGCTGG	0.677																																						ENST00000376694.4																			0				large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(1)	14						c.(58-60)gcG>gcA		tripartite motif containing 15							53	47	49					6																	30131521		1511	2708	4219	SO:0001819	synonymous_variant	89870				mesodermal cell fate determination	intracellular	zinc ion binding	g.chr6:30131521G>A	AF220132, U34249	CCDS4677.1	6p21.33	2013-01-09	2011-01-25		ENSG00000204610	ENSG00000204610		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	16284	protein-coding gene	gene with protein product			"zinc finger protein 178", "tripartite motif-containing 15"	ZNF178		11331580, 8304341, 8812418	Standard	NM_033229		Approved	ZNFB7, RNF93	uc010jrx.3	Q9C019	OTTHUMG00000031031	ENST00000376694.4:c.60G>A	6.37:g.30131521G>A						TRIM15_ENST00000376688.1_Silent_p.A20A	p.A20A	NM_033229.2	NP_150232.2	Q9C019	TRI15_HUMAN			1	529	+			20					A2BEC9|O95604|Q8IUX9|Q9C018	Silent	SNP	ENST00000376694.4	37	c.60G>A	CCDS4677.1																																																																																				0.677	TRIM15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076026.2	NM_033229		9	6	0	0	0	1	0	9	6					A	30131521	G	A	30131521	2	1	435	1	0	0	0	0	0	0	0	1	16487	1103	39	2		2	TRIM15	6	30131521	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	3267	30131521	140983546	3069	23994											
RPP21	79897	broad.mit.edu	37	chr6	30314256	30314256	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agacctgcctaacatgccagCgcagccaacgcttcctcaat	11	7	7	16	2	1	1	1	0	0	1	2	1	2	1	5	0	6	2	5	0	3	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:30314256C>T	ENST00000442966.2	+	4	302	c.289C>T	c.(289-291)Cgc>Tgc	p.R97C	RPP21_ENST00000466327.1_3'UTR|RPP21_ENST00000428040.2_Missense_Mutation_p.R120C|RPP21_ENST00000433076.2_Missense_Mutation_p.R105C|TRIM39-RPP21_ENST00000513556.1_Missense_Mutation_p.R358C|RPP21_ENST00000436442.2_Missense_Mutation_p.R97C			Q9H633	RPP21_HUMAN	ribonuclease P/MRP 21kDa subunit	97					response to drug (GO:0042493)|tRNA processing (GO:0008033)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|ribonuclease P activity (GO:0004526)			endometrium(2)|ovary(1)|prostate(1)	4						AACATGCCAGCGCAGCCAACG	0.572																																						ENST00000513556.1																			0											c.(1072-1074)Cgc>Tgc									74	70	72					6																	30314256		2203	4300	6503	SO:0001583	missense	0					intracellular	zinc ion binding	g.chr6:30314256C>T	AK026291	CCDS4679.1, CCDS56409.1, CCDS56410.1	6p21.32	2012-05-21	2007-06-26	2004-03-19	ENSG00000241370	ENSG00000241370			21300	protein-coding gene	gene with protein product		612524	"chromosome 6 open reading frame 135", "ribonuclease P 21kDa subunit"	C6orf135			Standard	NM_001199120		Approved	FLJ22638, Em:AB014085.3		Q9H633	OTTHUMG00000031220	ENST00000442966.2:c.289C>T	6.37:g.30314256C>T	ENSP00000403833:p.Arg97Cys					RPP21_ENST00000466327.1_3'UTR|RPP21_ENST00000433076.2_Missense_Mutation_p.R105C|RPP21_ENST00000442966.2_Missense_Mutation_p.R97C|RPP21_ENST00000428040.2_Missense_Mutation_p.R120C|RPP21_ENST00000436442.2_Missense_Mutation_p.R97C	p.R358C	NM_001199119.1	NP_001186048.1	A6ZJ12	A6ZJ12_HUMAN			9	1072	+			358					A2AAZ8|B0S834|B0S835|Q5JPL9|Q5JPM1|Q5STF8|Q5STF9|Q5STG2|Q5SU41|Q5SU42|Q86Y49|Q86Y50|Q86Y51|Q96F16	Missense_Mutation	SNP	ENST00000442966.2	37	c.1072C>T	CCDS4679.1	.	.	.	.	.	.	.	.	.	.	C	31	5.061868	0.93846	.	.	ENSG00000204599;ENSG00000248167;ENSG00000241370;ENSG00000241370;ENSG00000241370;ENSG00000241370	ENST00000412529;ENST00000513556;ENST00000433076;ENST00000442966;ENST00000428040;ENST00000436442	T;T;T;T;T	0.45668	0.89;0.89;0.89;0.89;0.89	5.69	5.69	0.88448	.	0.318348	0.32444	N	0.006083	T	0.51329	0.1668	L	0.50333	1.59	0.53688	D	0.999978	D;D;D;D	0.89917	0.994;0.997;1.0;1.0	P;P;D;D	0.70016	0.725;0.753;0.953;0.967	T	0.51513	-0.8696	10	0.87932	D	0	-28.8511	15.6714	0.77279	0.0:1.0:0.0:0.0	.	360;97;97;120	F5H2V3;Q9H633-3;Q9H633;Q9H633-2	.;.;RPP21_HUMAN;.	C	360;358;105;97;120;97	ENSP00000424048:R358C;ENSP00000409799:R105C;ENSP00000403833:R97C;ENSP00000394320:R120C;ENSP00000397778:R97C	ENSP00000394320:R120C	R	+	1	0	RPP21;TRIM39-RPP21;TRIM39	30422235	0.905000	0.30787	1.000000	0.80357	0.948000	0.59901	1.863000	0.39459	2.840000	0.97914	0.655000	0.94253	CGC		0.572	RPP21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076451.2	NM_024839		15	15	0	0	0	1	0	15	15					T	30314256	C	T	30314256	3	4	435	1	0	0	0	0	1	0	0	0	13610	768	27	1	303	1	RPP21	6	30314256	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	182735	30314256	140800811	3070	23995											
ABCF1	23	broad.mit.edu	37	chr6	30551625	30551625	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agcacattgccaaccgagccCtgagcatccctcccaacatt	11	7	6	17	1	0	1	0	1	0	0	2	2	2	1	5	0	6	2	5	0	2	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:30551625C>A	ENST00000326195.8	+	12	1172	c.1060C>A	c.(1060-1062)Ctg>Atg	p.L354M	ABCF1_ENST00000396515.4_Intron|ABCF1_ENST00000376545.3_Missense_Mutation_p.L316M|MIR877_ENST00000401282.1_RNA	NM_001025091.1	NP_001020262.1	Q8NE71	ABCF1_HUMAN	ATP-binding cassette, sub-family F (GCN20), member 1	354	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				inflammatory response (GO:0006954)|positive regulation of translation (GO:0045727)|translation (GO:0006412)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|polysomal ribosome (GO:0042788)|ribosome (GO:0005840)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|poly(A) RNA binding (GO:0044822)|ribosome binding (GO:0043022)|translation activator activity (GO:0008494)|translation factor activity, nucleic acid binding (GO:0008135)			breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(3)|skin(2)	21						CAACCGAGCCCTGAGCATCCC	0.537																																						ENST00000326195.8																			0				breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(3)|skin(2)	21						c.(1060-1062)Ctg>Atg		ATP-binding cassette, sub-family F (GCN20), member 1							102	82	89					6																	30551625		1511	2709	4220	SO:0001583	missense	23				inflammatory response|translational initiation	nuclear envelope|nucleoplasm|polysomal ribosome	ATP binding|ATPase activity|protein binding|ribosome binding|translation activator activity|translation factor activity, nucleic acid binding	g.chr6:30551625C>A	AF027302	CCDS34380.1, CCDS34381.1	6p21.33	2012-03-14			ENSG00000204574	ENSG00000204574		"ATP binding cassette transporters / subfamily F"	70	protein-coding gene	gene with protein product		603429		ABC50		9790762	Standard	NM_001025091		Approved	EST123147	uc003nql.3	Q8NE71	OTTHUMG00000031094	ENST00000326195.8:c.1060C>A	6.37:g.30551625C>A	ENSP00000313603:p.Leu354Met					ABCF1_ENST00000396515.4_Intron|ABCF1_ENST00000376545.3_Missense_Mutation_p.L316M	p.L354M	NM_001025091.1	NP_001020262.1	Q8NE71	ABCF1_HUMAN			12	1172	+			354			ABC transporter 1.		A2BF75|O14897|Q69YP6	Missense_Mutation	SNP	ENST00000326195.8	37	c.1060C>A	CCDS34380.1	.	.	.	.	.	.	.	.	.	.	C	19.40	3.821200	0.71028	.	.	ENSG00000204574	ENST00000326195;ENST00000376545;ENST00000455943	D;D	0.93763	-3.28;-3.28	4.79	3.86	0.44501	ATPase, AAA+ type, core (1);ABC transporter-like (1);	0.073092	0.56097	D	0.000031	D	0.94765	0.8310	M	0.73430	2.235	0.80722	D	1	D;D;D	0.89917	1.0;0.998;0.998	D;D;D	0.80764	0.994;0.989;0.989	D	0.94913	0.8066	10	0.87932	D	0	-13.7251	10.4165	0.44325	0.0:0.8956:0.0:0.1044	.	316;354;354	Q2L6I2;Q8NE71;A2BF75	.;ABCF1_HUMAN;.	M	354;316;355	ENSP00000313603:L354M;ENSP00000365728:L316M	ENSP00000313603:L354M	L	+	1	2	ABCF1	30659604	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	2.758000	0.47565	1.068000	0.40764	0.462000	0.41574	CTG		0.537	ABCF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000076137.3			20	27	1	0	1.66031e-10	1	1.77558e-10	20	27					A	30551625	C	A	30551625	3	1	435	1	0	0	0	0	1	0	0	0	65	680	24	5	1106	5	ABCF1	6	30551625	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	237369	30551625	140563442	3071	23996											
PPP1R10	5514	broad.mit.edu	37	chr6	30572474	30572474	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggggaagaaggtttggctgtGcttggttctgtgctcgtttt	4	16	16	5	1	1	1	0	0	1	1	2	2	1	2	0	5	2	6	0	5	2	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:30572474G>C	ENST00000376511.2	-	12	1545	c.993C>G	c.(991-993)agC>agG	p.S331R		NM_002714.3	NP_002705.2	Q96QC0	PP1RA_HUMAN	protein phosphatase 1, regulatory subunit 10	331	Interaction with TOX4. {ECO:0000250}.				protein import into nucleus (GO:0006606)|transcription, DNA-templated (GO:0006351)	chromatin (GO:0000785)|nucleus (GO:0005634)|PTW/PP1 phosphatase complex (GO:0072357)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|protein phosphatase inhibitor activity (GO:0004864)			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(3)|skin(1)	25						GTTTGGCTGTGCTTGGTTCTG	0.532																																						ENST00000376511.2																			0				cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(3)|skin(1)	25						c.(991-993)agC>agG		protein phosphatase 1, regulatory subunit 10							324	316	319					6																	30572474		1511	2709	4220	SO:0001583	missense	5514				protein import into nucleus|transcription, DNA-dependent	PTW/PP1 phosphatase complex	DNA binding|protein phosphatase inhibitor activity|RNA binding|zinc ion binding	g.chr6:30572474G>C	Y13247	CCDS4681.1	6p21.3	2012-04-17	2011-10-04		ENSG00000204569	ENSG00000204569		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	9284	protein-coding gene	gene with protein product	"phosphatase 1 nuclear targeting subunit", "HLA-C associated transcript 53"	603771	"protein phosphatase 1, regulatory (inhibitor) subunit 10"			9461602, 9784381	Standard	NM_002714		Approved	PNUTS, FB19, CAT53, p99	uc003nqn.2	Q96QC0	OTTHUMG00000031259	ENST00000376511.2:c.993C>G	6.37:g.30572474G>C	ENSP00000365694:p.Ser331Arg						p.S331R	NM_002714.3	NP_002705.2	Q96QC0	PP1RA_HUMAN			12	1545	-			331			Interaction with TOX4 (By similarity).		O00405	Missense_Mutation	SNP	ENST00000376511.2	37	c.993C>G	CCDS4681.1	.	.	.	.	.	.	.	.	.	.	G	10.20	1.284534	0.23392	.	.	ENSG00000204569	ENST00000376511	T	0.47869	0.83	5.46	4.59	0.56863	.	0.304552	0.40469	N	0.001097	T	0.12518	0.0304	N	0.08118	0	0.39501	D	0.968205	P	0.41313	0.745	B	0.36418	0.224	T	0.07751	-1.0756	10	0.87932	D	0	-19.7744	7.5088	0.27562	0.2498:0.0:0.7502:0.0	.	331	Q96QC0	PP1RA_HUMAN	R	331	ENSP00000365694:S331R	ENSP00000365694:S331R	S	-	3	2	PPP1R10	30680453	0.916000	0.31088	1.000000	0.80357	0.999000	0.98932	0.471000	0.22100	1.311000	0.45024	0.655000	0.94253	AGC		0.532	PPP1R10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076556.2	NM_002714		80	101	0	0	0	1	0	80	101					C	30572474	G	C	30572474	3	2	435	1	0	0	0	0	1	0	0	0	12352	1310	46	5	1865	5	PPP1R10	6	30572474	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	20849	30572474	140542593	3072	23997											
PPP1R10	5514	broad.mit.edu	37	chr6	30573700	30573700	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cttccccactttagactcacGctgtggcgggatgatcttca	7	12	9	13	2	3	2	2	1	1	1	4	3	4	3	2	2	0	1	2	2	1	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:30573700G>A	ENST00000376511.2	-	10	1405	c.853C>T	c.(853-855)Cct>Tct	p.P285S		NM_002714.3	NP_002705.2	Q96QC0	PP1RA_HUMAN	protein phosphatase 1, regulatory subunit 10	285	Interaction with TOX4. {ECO:0000250}.				protein import into nucleus (GO:0006606)|transcription, DNA-templated (GO:0006351)	chromatin (GO:0000785)|nucleus (GO:0005634)|PTW/PP1 phosphatase complex (GO:0072357)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|protein phosphatase inhibitor activity (GO:0004864)			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(3)|skin(1)	25						TTAGACTCACGCTGTGGCGGG	0.458																																						ENST00000376511.2																			0				cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(3)|skin(1)	25						c.e10+1		protein phosphatase 1, regulatory subunit 10							292	285	287					6																	30573700		2203	4300	6503	SO:0001630	splice_region_variant	5514				protein import into nucleus|transcription, DNA-dependent	PTW/PP1 phosphatase complex	DNA binding|protein phosphatase inhibitor activity|RNA binding|zinc ion binding	g.chr6:30573700G>A	Y13247	CCDS4681.1	6p21.3	2012-04-17	2011-10-04		ENSG00000204569	ENSG00000204569		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	9284	protein-coding gene	gene with protein product	"phosphatase 1 nuclear targeting subunit", "HLA-C associated transcript 53"	603771	"protein phosphatase 1, regulatory (inhibitor) subunit 10"			9461602, 9784381	Standard	NM_002714		Approved	PNUTS, FB19, CAT53, p99	uc003nqn.2	Q96QC0	OTTHUMG00000031259	ENST00000376511.2:c.853+1C>T	6.37:g.30573700G>A							p.P285_splice	NM_002714.3	NP_002705.2	Q96QC0	PP1RA_HUMAN			10	1405	-			285			Interaction with TOX4 (By similarity).		O00405	Splice_Site	SNP	ENST00000376511.2	37	c.853_splice	CCDS4681.1	.	.	.	.	.	.	.	.	.	.	G	16.62	3.174425	0.57692	.	.	ENSG00000204569	ENST00000376511;ENST00000537132	T	0.48836	0.8	5.68	5.68	0.88126	.	0.053525	0.85682	D	0.000000	T	0.48447	0.1500	N	0.19112	0.55	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	T	0.54860	-0.8230	10	0.62326	D	0.03	-8.5297	18.5564	0.91086	0.0:0.0:1.0:0.0	.	285	Q96QC0	PP1RA_HUMAN	S	285	ENSP00000365694:P285S	ENSP00000365694:P285S	P	-	1	0	PPP1R10	30681679	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	8.305000	0.89960	2.671000	0.90904	0.650000	0.86243	CCT		0.458	PPP1R10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076556.2	NM_002714	Missense_Mutation	6	190	0	0	0	1	0	6	190					A	30573700	G	A	30573700	5	1	435	1	0	0	0	0	0	0	1	0	12352	1101	38	1	2013	1	PPP1R10	6	30573700	Splice_Site	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	1226	30573700	140541367	3073	23998											
MDC1	9656	broad.mit.edu	37	chr6	30680284	30680284	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaatgtgctctaacaagggCtctaatctttgtgtgatcct	9	15	9	8	0	3	2	0	2	3	0	4	2	4	2	1	1	2	2	1	1	4	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:30680284C>T	ENST00000376406.3	-	5	2082	c.1435G>A	c.(1435-1437)Gcc>Acc	p.A479T	MDC1-AS1_ENST00000442150.1_RNA|MDC1_ENST00000494654.1_5'Flank|MDC1_ENST00000376405.2_Missense_Mutation_p.A479T	NM_014641.2	NP_055456.2	Q14676	MDC1_HUMAN	mediator of DNA-damage checkpoint 1	479	Required for nuclear localization (NLS1).				DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|intra-S DNA damage checkpoint (GO:0031573)	chromosome (GO:0005694)|focal adhesion (GO:0005925)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	FHA domain binding (GO:0070975)|protein C-terminus binding (GO:0008022)			breast(2)|kidney(1)|ovary(1)	4						CTAACAAGGGCTCTAATCTTT	0.502								Other conserved DNA damage response genes																														ENST00000376406.3																			0				breast(2)|kidney(1)|ovary(1)	4						c.(1435-1437)Gcc>Acc	Other conserved DNA damage response genes	mediator of DNA-damage checkpoint 1							160	176	170					6																	30680284		1508	2707	4215	SO:0001583	missense	9656				cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint	focal adhesion|nucleoplasm	FHA domain binding|protein C-terminus binding	g.chr6:30680284C>T	D79992	CCDS34384.1	6p21.3	2010-02-17	2009-06-12		ENSG00000137337	ENSG00000137337			21163	protein-coding gene	gene with protein product		607593				10975465, 12607005	Standard	NM_014641		Approved	NFBD1, KIAA0170, Em:AB023051.5	uc003nrg.4	Q14676	OTTHUMG00000031075	ENST00000376406.3:c.1435G>A	6.37:g.30680284C>T	ENSP00000365588:p.Ala479Thr					MDC1_ENST00000376405.2_Missense_Mutation_p.A479T|MDC1-AS1_ENST00000442150.1_RNA	p.A479T	NM_014641.2	NP_055456.2	Q14676	MDC1_HUMAN			5	2082	-			479			Required for nuclear localization (NLS1).		A2AB04|A2BF04|A2RRA8|A7YY86|B0S8A2|Q0EFC2|Q2L6H7|Q2TAZ4|Q5JP55|Q5JP56|Q5ST83|Q68CQ3|Q86Z06|Q96QC2	Missense_Mutation	SNP	ENST00000376406.3	37	c.1435G>A	CCDS34384.1	.	.	.	.	.	.	.	.	.	.	C	8.429	0.848121	0.17034	.	.	ENSG00000137337	ENST00000376406;ENST00000376405;ENST00000429610;ENST00000422104	T;T	0.02890	4.2;4.12	2.63	-1.53	0.08611	.	.	.	.	.	T	0.00552	0.0018	N	0.22421	0.69	0.09310	N	1	P;B;B;B	0.37441	0.595;0.057;0.235;0.093	B;B;B;B	0.25140	0.058;0.034;0.026;0.032	T	0.47837	-0.9086	9	0.42905	T	0.14	-2.4007	6.4015	0.21640	0.0:0.4533:0.0:0.5467	.	479;351;479;479	Q14676-2;B4DYH4;Q14676;Q14676-4	.;.;MDC1_HUMAN;.	T	479;479;479;351	ENSP00000365588:A479T;ENSP00000365587:A479T	ENSP00000365587:A479T	A	-	1	0	MDC1	30788263	0.000000	0.05858	0.000000	0.03702	0.026000	0.11368	-0.561000	0.05957	-0.435000	0.07264	-0.258000	0.10820	GCC		0.502	MDC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000076103.1	NM_014641		36	59	0	0	0	1	0	36	59					T	30680284	C	T	30680284	3	4	435	1	0	0	0	0	1	0	0	0	9403	797	28	3	4878	3	MDC1	6	30680284	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	106584	30680284	140434783	3074	23999											
MDC1	9656	broad.mit.edu	37	chr6	30680817	30680817	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctgtcatcatccacatctGtgtcactgtcctctccagga	7	13	7	14	0	5	0	3	0	2	0	8	1	7	1	3	1	1	1	3	1	0	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:30680817G>A	ENST00000376406.3	-	5	1549	c.902C>T	c.(901-903)aCa>aTa	p.T301I	MDC1-AS1_ENST00000442150.1_RNA|MDC1_ENST00000494654.1_5'Flank|MDC1_ENST00000376405.2_Missense_Mutation_p.T301I	NM_014641.2	NP_055456.2	Q14676	MDC1_HUMAN	mediator of DNA-damage checkpoint 1	301	Required for nuclear localization (NLS1).				DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|intra-S DNA damage checkpoint (GO:0031573)	chromosome (GO:0005694)|focal adhesion (GO:0005925)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	FHA domain binding (GO:0070975)|protein C-terminus binding (GO:0008022)			breast(2)|kidney(1)|ovary(1)	4						ATCCACATCTGTGTCACTGTC	0.552								Other conserved DNA damage response genes																														ENST00000376406.3																			0				breast(2)|kidney(1)|ovary(1)	4						c.(901-903)aCa>aTa	Other conserved DNA damage response genes	mediator of DNA-damage checkpoint 1							143	123	130					6																	30680817		1511	2708	4219	SO:0001583	missense	9656				cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint	focal adhesion|nucleoplasm	FHA domain binding|protein C-terminus binding	g.chr6:30680817G>A	D79992	CCDS34384.1	6p21.3	2010-02-17	2009-06-12		ENSG00000137337	ENSG00000137337			21163	protein-coding gene	gene with protein product		607593				10975465, 12607005	Standard	NM_014641		Approved	NFBD1, KIAA0170, Em:AB023051.5	uc003nrg.4	Q14676	OTTHUMG00000031075	ENST00000376406.3:c.902C>T	6.37:g.30680817G>A	ENSP00000365588:p.Thr301Ile					MDC1_ENST00000376405.2_Missense_Mutation_p.T301I|MDC1-AS1_ENST00000442150.1_RNA	p.T301I	NM_014641.2	NP_055456.2	Q14676	MDC1_HUMAN			5	1549	-			301			Required for nuclear localization (NLS1).		A2AB04|A2BF04|A2RRA8|A7YY86|B0S8A2|Q0EFC2|Q2L6H7|Q2TAZ4|Q5JP55|Q5JP56|Q5ST83|Q68CQ3|Q86Z06|Q96QC2	Missense_Mutation	SNP	ENST00000376406.3	37	c.902C>T	CCDS34384.1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.505592	0.85282	.	.	ENSG00000137337	ENST00000376406;ENST00000376405;ENST00000429610;ENST00000422104	T;T	0.08008	3.17;3.14	5.29	5.29	0.74685	.	0.000000	0.39985	N	0.001203	T	0.21062	0.0507	M	0.74881	2.28	0.42638	D	0.993407	D;D;D	0.76494	0.999;0.996;0.999	D;D;D	0.83275	0.982;0.936;0.996	T	0.00146	-1.1991	10	0.87932	D	0	-13.1458	14.2988	0.66331	0.0:0.0:1.0:0.0	.	301;173;301	Q14676-2;B4DYH4;Q14676	.;.;MDC1_HUMAN	I	301;301;301;173	ENSP00000365588:T301I;ENSP00000365587:T301I	ENSP00000365587:T301I	T	-	2	0	MDC1	30788796	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	6.328000	0.72915	2.756000	0.94617	0.561000	0.74099	ACA		0.552	MDC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000076103.1	NM_014641		27	50	0	0	0	1	0	27	50					A	30680817	G	A	30680817	3	1	435	1	0	0	0	0	1	0	0	0	9403	1377	48	3	5411	3	MDC1	6	30680817	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	533	30680817	140434250	3075	24000											
DDR1	780	broad.mit.edu	37	chr6	30856711	30856711	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gccgctatgccctgggcatgCaggaccggaccatcccagac	8	5	12	16	2	0	1	0	0	0	1	1	3	1	3	5	3	2	3	5	3	1	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:30856711C>T	ENST00000324771.8	+	5	660	c.112C>T	c.(112-114)Cag>Tag	p.Q38*	DDR1_ENST00000376569.3_Nonsense_Mutation_p.Q38*|DDR1_ENST00000376570.4_Nonsense_Mutation_p.Q38*|DDR1_ENST00000361741.4_5'Flank|DDR1_ENST00000376567.2_Nonsense_Mutation_p.Q38*|DDR1_ENST00000376568.3_Nonsense_Mutation_p.Q38*|DDR1_ENST00000418800.2_Nonsense_Mutation_p.Q38*|DDR1_ENST00000446312.1_Nonsense_Mutation_p.Q38*|DDR1_ENST00000452441.1_Nonsense_Mutation_p.Q38*|DDR1_ENST00000508312.1_Nonsense_Mutation_p.Q56*|DDR1_ENST00000454612.2_Nonsense_Mutation_p.Q38*|MIR4640_ENST00000581824.1_RNA|DDR1_ENST00000376575.3_Nonsense_Mutation_p.Q38*|DDR1_ENST00000513240.1_Nonsense_Mutation_p.Q38*			Q08345	DDR1_HUMAN	discoidin domain receptor tyrosine kinase 1	38	F5/8 type C. {ECO:0000255|PROSITE- ProRule:PRU00081}.				branching involved in mammary gland duct morphogenesis (GO:0060444)|cell adhesion (GO:0007155)|collagen-activated tyrosine kinase receptor signaling pathway (GO:0038063)|ear development (GO:0043583)|embryo implantation (GO:0007566)|extracellular matrix organization (GO:0030198)|lactation (GO:0007595)|mammary gland alveolus development (GO:0060749)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine autophosphorylation (GO:0038083)|protein autophosphorylation (GO:0046777)|regulation of cell growth (GO:0001558)|regulation of cell-matrix adhesion (GO:0001952)|regulation of extracellular matrix disassembly (GO:0010715)|smooth muscle cell migration (GO:0014909)|smooth muscle cell-matrix adhesion (GO:0061302)|wound healing, spreading of cells (GO:0044319)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|collagen binding (GO:0005518)|metal ion binding (GO:0046872)|protein tyrosine kinase collagen receptor activity (GO:0038062)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(14)|ovary(1)|prostate(1)|skin(1)	29					Imatinib(DB00619)	CCTGGGCATGCAGGACCGGAC	0.602																																						ENST00000324771.8																			0				central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(14)|ovary(1)|prostate(1)|skin(1)	29						c.(112-114)Cag>Tag		discoidin domain receptor tyrosine kinase 1	Imatinib(DB00619)						92	70	78					6																	30856711		1511	2708	4219	SO:0001587	stop_gained	780				cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular region|integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity	g.chr6:30856711C>T	X99031	CCDS4690.1, CCDS34385.1, CCDS47396.1, CCDS56411.1, CCDS75419.1	6p21.33	2010-02-17	2008-01-23		ENSG00000204580	ENSG00000204580	2.7.10.1	"CD molecules"	2730	protein-coding gene	gene with protein product		600408	"discoidin domain receptor family, member 1"	NTRK4, PTK3A, NEP, CAK, EDDR1		7789998	Standard	NM_001954		Approved	RTK6, CD167	uc003nrv.3	Q08345	OTTHUMG00000031236	ENST00000324771.8:c.112C>T	6.37:g.30856711C>T	ENSP00000318217:p.Gln38*					DDR1_ENST00000376568.3_Nonsense_Mutation_p.Q38*|DDR1_ENST00000376569.3_Nonsense_Mutation_p.Q38*|DDR1_ENST00000376575.3_Nonsense_Mutation_p.Q38*|DDR1_ENST00000446312.1_Nonsense_Mutation_p.Q38*|DDR1_ENST00000376570.4_Nonsense_Mutation_p.Q38*|DDR1_ENST00000452441.1_Nonsense_Mutation_p.Q38*|DDR1_ENST00000508312.1_Nonsense_Mutation_p.Q56*|DDR1_ENST00000376567.2_Nonsense_Mutation_p.Q38*|DDR1_ENST00000418800.2_Nonsense_Mutation_p.Q38*|DDR1_ENST00000513240.1_Nonsense_Mutation_p.Q38*|DDR1_ENST00000454612.2_Nonsense_Mutation_p.Q38*	p.Q38*			Q08345	DDR1_HUMAN			5	660	+			38			F5/8 type C.		B5A975|B5A976|B7Z2K0|Q14196|Q16562|Q2L6H3|Q4LE50|Q5ST11|Q5ST12|Q6NSK4|Q9UD35|Q9UD36|Q9UD37|Q9UD86|Q9UDL2	Nonsense_Mutation	SNP	ENST00000324771.8	37	c.112C>T	CCDS34385.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	38|38	6.811238|6.811238	0.97857|0.97857	.|.	.|.	ENSG00000204580|ENSG00000204580	ENST00000424544|ENST00000502955;ENST00000505066;ENST00000460944;ENST00000324771;ENST00000505534;ENST00000503180;ENST00000508317;ENST00000418800;ENST00000509639;ENST00000412274;ENST00000507901;ENST00000454612;ENST00000507046;ENST00000437124;ENST00000396342;ENST00000504651;ENST00000512694;ENST00000515233;ENST00000515881;ENST00000513043;ENST00000376569;ENST00000511510;ENST00000376575;ENST00000376570;ENST00000446312;ENST00000504927;ENST00000428153;ENST00000376568;ENST00000452441;ENST00000508312;ENST00000512336;ENST00000421124;ENST00000512725;ENST00000504679;ENST00000503495;ENST00000503670;ENST00000376567;ENST00000513240	.|.	.|.	.|.	5.22|5.22	5.22|5.22	0.72569|0.72569	.|.	.|0.068773	.|0.64402	.|D	.|0.000017	T|.	0.70971|.	0.3285|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.75119|.	-0.3430|.	4|.	.|0.72032	.|D	.|0.01	.|.	16.2735|16.2735	0.82632|0.82632	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	V|X	31|38;38;38;38;38;38;38;38;38;38;38;38;38;38;38;38;38;38;38;38;38;38;38;38;38;38;38;38;38;56;38;38;38;38;64;38;38;38	.|.	.|ENSP00000318217:Q38X	A|Q	+|+	2|1	0|0	DDR1|DDR1	30964690|30964690	0.999000|0.999000	0.42202|0.42202	1.000000|1.000000	0.80357|0.80357	0.982000|0.982000	0.71751|0.71751	0.756000|0.756000	0.26419|0.26419	2.427000|2.427000	0.82271|0.82271	0.305000|0.305000	0.20034|0.20034	GCA|CAG		0.602	DDR1-005	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000076494.3	NM_013994		19	19	0	0	0	1	0	19	19					T	30856711	C	T	30856711	4	4	435	1	0	0	0	0	0	1	0	0	4336	711	25	3	118	3	DDR1	6	30856711	Nonsense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	175894	30856711	140258356	3076	24001											
DDR1	780	broad.mit.edu	37	chr6	30866025	30866025	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tctatgctggggactattacCgtgtgcagggccgggcagtg	6	10	16	9	2	1	0	0	0	1	0	1	1	1	1	2	4	3	3	2	4	3	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:30866025C>T	ENST00000324771.8	+	18	2940	c.2392C>T	c.(2392-2394)Cgt>Tgt	p.R798C	DDR1_ENST00000376569.3_Missense_Mutation_p.R761C|DDR1_ENST00000376570.4_Missense_Mutation_p.R761C|DDR1_ENST00000361741.4_Intron|DDR1_ENST00000376567.2_Missense_Mutation_p.R761C|DDR1_ENST00000376568.3_Missense_Mutation_p.R798C|DDR1_ENST00000418800.2_Missense_Mutation_p.R761C|DDR1_ENST00000446312.1_3'UTR|DDR1_ENST00000452441.1_Missense_Mutation_p.R798C|DDR1_ENST00000508312.1_Missense_Mutation_p.R779C|DDR1_ENST00000454612.2_Missense_Mutation_p.R761C|DDR1_ENST00000376575.3_Missense_Mutation_p.R804C|DDR1_ENST00000513240.1_Missense_Mutation_p.R804C			Q08345	DDR1_HUMAN	discoidin domain receptor tyrosine kinase 1	798	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				branching involved in mammary gland duct morphogenesis (GO:0060444)|cell adhesion (GO:0007155)|collagen-activated tyrosine kinase receptor signaling pathway (GO:0038063)|ear development (GO:0043583)|embryo implantation (GO:0007566)|extracellular matrix organization (GO:0030198)|lactation (GO:0007595)|mammary gland alveolus development (GO:0060749)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine autophosphorylation (GO:0038083)|protein autophosphorylation (GO:0046777)|regulation of cell growth (GO:0001558)|regulation of cell-matrix adhesion (GO:0001952)|regulation of extracellular matrix disassembly (GO:0010715)|smooth muscle cell migration (GO:0014909)|smooth muscle cell-matrix adhesion (GO:0061302)|wound healing, spreading of cells (GO:0044319)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|collagen binding (GO:0005518)|metal ion binding (GO:0046872)|protein tyrosine kinase collagen receptor activity (GO:0038062)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(14)|ovary(1)|prostate(1)|skin(1)	29					Imatinib(DB00619)	GGACTATTACCGTGTGCAGGG	0.607																																						ENST00000324771.8																			0				central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(14)|ovary(1)|prostate(1)|skin(1)	29						c.(2392-2394)Cgt>Tgt		discoidin domain receptor tyrosine kinase 1	Imatinib(DB00619)						63	55	57					6																	30866025		2203	4300	6503	SO:0001583	missense	780				cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular region|integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity	g.chr6:30866025C>T	X99031	CCDS4690.1, CCDS34385.1, CCDS47396.1, CCDS56411.1, CCDS75419.1	6p21.33	2010-02-17	2008-01-23		ENSG00000204580	ENSG00000204580	2.7.10.1	"CD molecules"	2730	protein-coding gene	gene with protein product		600408	"discoidin domain receptor family, member 1"	NTRK4, PTK3A, NEP, CAK, EDDR1		7789998	Standard	NM_001954		Approved	RTK6, CD167	uc003nrv.3	Q08345	OTTHUMG00000031236	ENST00000324771.8:c.2392C>T	6.37:g.30866025C>T	ENSP00000318217:p.Arg798Cys					DDR1_ENST00000376568.3_Missense_Mutation_p.R798C|DDR1_ENST00000376569.3_Missense_Mutation_p.R761C|DDR1_ENST00000376575.3_Missense_Mutation_p.R804C|DDR1_ENST00000446312.1_3'UTR|DDR1_ENST00000376570.4_Missense_Mutation_p.R761C|DDR1_ENST00000452441.1_Missense_Mutation_p.R798C|DDR1_ENST00000361741.4_Intron|DDR1_ENST00000508312.1_Missense_Mutation_p.R779C|DDR1_ENST00000376567.2_Missense_Mutation_p.R761C|DDR1_ENST00000418800.2_Missense_Mutation_p.R761C|DDR1_ENST00000513240.1_Missense_Mutation_p.R804C|DDR1_ENST00000454612.2_Missense_Mutation_p.R761C	p.R798C			Q08345	DDR1_HUMAN			18	2940	+			798			Protein kinase.		B5A975|B5A976|B7Z2K0|Q14196|Q16562|Q2L6H3|Q4LE50|Q5ST11|Q5ST12|Q6NSK4|Q9UD35|Q9UD36|Q9UD37|Q9UD86|Q9UDL2	Missense_Mutation	SNP	ENST00000324771.8	37	c.2392C>T	CCDS34385.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.247625	0.80024	.	.	ENSG00000204580	ENST00000324771;ENST00000418800;ENST00000454612;ENST00000376569;ENST00000376575;ENST00000376570;ENST00000376568;ENST00000452441;ENST00000508312;ENST00000376567;ENST00000513240	D;D;D;D;D;D;D;D;D;D;D	0.83419	-1.72;-1.72;-1.72;-1.72;-1.72;-1.72;-1.72;-1.72;-1.72;-1.72;-1.72	5.11	4.24	0.50183	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Tyrosine-protein kinase, receptor class II, conserved site (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.84866	0.5567	L	0.51422	1.61	0.80722	D	1	D;D;D;D	0.89917	1.0;0.997;1.0;1.0	D;D;D;D	0.91635	0.998;0.911;0.999;0.999	D	0.87094	0.2174	10	0.87932	D	0	.	12.7777	0.57457	0.165:0.835:0.0:0.0	.	779;262;804;798	B7Z2K0;A2ABL4;Q08345-5;Q08345	.;.;.;DDR1_HUMAN	C	798;761;761;761;804;761;798;798;779;761;804	ENSP00000318217:R798C;ENSP00000407699:R761C;ENSP00000406091:R761C;ENSP00000365753:R761C;ENSP00000365759:R804C;ENSP00000365754:R761C;ENSP00000365752:R798C;ENSP00000405039:R798C;ENSP00000422442:R779C;ENSP00000365751:R761C;ENSP00000427552:R804C	ENSP00000318217:R798C	R	+	1	0	DDR1	30974004	1.000000	0.71417	0.992000	0.48379	0.997000	0.91878	3.854000	0.55949	1.357000	0.45904	0.563000	0.77884	CGT		0.607	DDR1-005	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000076494.3	NM_013994		12	13	0	0	0	1	0	12	13					T	30866025	C	T	30866025	3	4	435	1	0	0	0	0	1	0	0	0	4336	652	23	2	2468	2	DDR1	6	30866025	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	9314	30866025	140249042	3077	24002											
GTF2H4	2968	broad.mit.edu	37	chr6	30879819	30879819	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcggcgttactaccccacacGcctggccatcaatctctcat	8	10	6	17	3	3	0	2	0	1	0	5	0	3	0	4	2	2	1	4	2	3	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:30879819G>A	ENST00000259895.4	+	10	1077	c.854G>A	c.(853-855)cGc>cAc	p.R285H	GTF2H4_ENST00000376316.2_Missense_Mutation_p.R285H|VARS2_ENST00000542001.1_5'Flank|VARS2_ENST00000321897.5_5'Flank|VARS2_ENST00000541562.1_5'Flank|VARS2_ENST00000416670.2_5'Flank|GTF2H4_ENST00000539324.1_3'UTR	NM_001517.4	NP_001508.1	Q92759	TF2H4_HUMAN	general transcription factor IIH, polypeptide 4, 52kDa	285					7-methylguanosine mRNA capping (GO:0006370)|ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)|gene expression (GO:0010467)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|positive regulation of viral transcription (GO:0050434)|protein phosphorylation (GO:0006468)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032)	core TFIIH complex (GO:0000439)|holo TFIIH complex (GO:0005675)|nucleoplasm (GO:0005654)	ATP-dependent DNA helicase activity (GO:0004003)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(3)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	11						TACCCCACACGCCTGGCCATC	0.498								Nucleotide excision repair (NER)																														ENST00000259895.4																			0				breast(1)|endometrium(3)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	11						c.(853-855)cGc>cAc	Nucleotide excision repair (NER)	general transcription factor IIH, polypeptide 4, 52kDa							68	73	72					6																	30879819		1510	2708	4218	SO:0001583	missense	2968				mRNA capping|nucleotide-excision repair, DNA damage removal|positive regulation of viral transcription|protein phosphorylation|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	holo TFIIH complex	protein binding|sequence-specific DNA binding transcription factor activity	g.chr6:30879819G>A	Y07595	CCDS34386.1	6p21.3	2012-11-05	2002-08-29		ENSG00000213780	ENSG00000213780		"General transcription factors", "General transcription factor IIH complex subunits"	4658	protein-coding gene	gene with protein product		601760	"general transcription factor IIH, polypeptide 4 (52kD subunit)"			9118947	Standard	NM_001517		Approved	TFB2, TFIIH, P52	uc003nsa.1	Q92759	OTTHUMG00000031043	ENST00000259895.4:c.854G>A	6.37:g.30879819G>A	ENSP00000259895:p.Arg285His					GTF2H4_ENST00000376316.2_Missense_Mutation_p.R285H|GTF2H4_ENST00000539324.1_3'UTR	p.R285H	NM_001517.4	NP_001508.1	Q92759	TF2H4_HUMAN			10	1077	+			285					B4DTJ5|Q76KU4	Missense_Mutation	SNP	ENST00000259895.4	37	c.854G>A	CCDS34386.1	.	.	.	.	.	.	.	.	.	.	G	19.54	3.846567	0.71603	.	.	ENSG00000213780	ENST00000259895;ENST00000376316	T;T	0.54675	0.56;0.56	5.42	5.42	0.78866	.	0.000000	0.64402	U	0.000001	T	0.65386	0.2686	M	0.69823	2.125	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.77557	0.99;0.972	T	0.64071	-0.6493	10	0.40728	T	0.16	-18.9343	16.7226	0.85414	0.0:0.0:1.0:0.0	.	291;285	B4DNU0;Q92759	.;TF2H4_HUMAN	H	285	ENSP00000259895:R285H;ENSP00000365493:R285H	ENSP00000259895:R285H	R	+	2	0	GTF2H4	30987798	1.000000	0.71417	0.962000	0.40283	0.913000	0.54294	6.848000	0.75409	2.535000	0.85469	0.655000	0.94253	CGC		0.498	GTF2H4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076044.3	NM_001517		17	51	0	0	0	1	0	17	51					A	30879819	G	A	30879819	3	1	435	1	0	0	0	0	1	0	0	0	6865	1087	38	1	888	1	GTF2H4	6	30879819	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	13794	30879819	140235248	3078	24003											
VARS2	57176	broad.mit.edu	37	chr6	30882962	30882962	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gaatccattaaggcctggagGcctaaggagttagtattgta	12	11	12	6	0	0	0	0	0	0	0	1	3	1	2	3	4	0	3	3	4	6	6			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:30882962G>A	ENST00000321897.5	+	2	863	c.231G>A	c.(229-231)agG>agA	p.R77R	VARS2_ENST00000542001.1_5'UTR|VARS2_ENST00000541562.1_Silent_p.R107R|VARS2_ENST00000416670.2_Silent_p.R77R			Q5ST30	SYVM_HUMAN	valyl-tRNA synthetase 2, mitochondrial	77					gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)|valyl-tRNA aminoacylation (GO:0006438)	mitochondrion (GO:0005739)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|valine-tRNA ligase activity (GO:0004832)			central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(3)|prostate(3)|skin(4)|urinary_tract(1)	46						AGGCCTGGAGGCCTAAGGAGT	0.468																																						ENST00000321897.5																			0				central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(3)|prostate(3)|skin(4)|urinary_tract(1)	46						c.(229-231)agG>agA		valyl-tRNA synthetase 2, mitochondrial							92	97	95					6																	30882962		2203	4300	6503	SO:0001819	synonymous_variant	57176				valyl-tRNA aminoacylation	mitochondrion	ATP binding|valine-tRNA ligase activity	g.chr6:30882962G>A	AB067472	CCDS34387.1, CCDS54980.1	6p21.33	2012-10-26	2012-10-26	2007-02-23	ENSG00000137411	ENSG00000137411	6.1.1.9	"Aminoacyl tRNA synthetases / Class I"	21642	protein-coding gene	gene with protein product	"valine tRNA ligase 2, mitochondrial"	612802	"valyl-tRNA synthetase 2-like", "valyl-tRNA synthetase like", "valyl-tRNA synthetase 2, mitochondrial (putative)"	VARS2L, VARSL		1898367, 11572484, 18400783	Standard	NM_001167734		Approved	DKFZP434L1435, KIAA1885, G7a	uc011dmz.2	Q5ST30	OTTHUMG00000031263	ENST00000321897.5:c.231G>A	6.37:g.30882962G>A						VARS2_ENST00000542001.1_5'UTR|VARS2_ENST00000541562.1_Silent_p.R107R|VARS2_ENST00000416670.2_Silent_p.R77R	p.R77R			Q5ST30	SYVM_HUMAN			2	863	+			77					A2ABL7|B4DET4|B4E3P5|F5GXJ0|F5H323|Q2M2A0|Q59FI1|Q5SQ96|Q5SS98|Q6DKJ5|Q6ZV24|Q96GN2|Q96H77|Q96Q02|Q9H6R2|Q9UFH7	Silent	SNP	ENST00000321897.5	37	c.231G>A	CCDS34387.1																																																																																				0.468	VARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076566.2	NM_020442		34	52	0	0	0	1	0	34	52					A	30882962	G	A	30882962	2	1	435	1	0	0	0	0	0	0	0	1	17121	1194	42	3		3	VARS2	6	30882962	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	3143	30882962	140232105	3079	24004											
VARS2	57176	broad.mit.edu	37	chr6	30887557	30887557	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctacacgggcgacagcttcGtcaccccttgatggggcagc	7	8	12	14	3	2	1	1	1	1	0	3	2	2	1	2	3	3	2	2	3	1	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:30887557G>A	ENST00000321897.5	+	11	1729	c.1097G>A	c.(1096-1098)cGt>cAt	p.R366H	VARS2_ENST00000542001.1_Missense_Mutation_p.R226H|VARS2_ENST00000541562.1_Missense_Mutation_p.R396H|VARS2_ENST00000416670.2_Missense_Mutation_p.R366H			Q5ST30	SYVM_HUMAN	valyl-tRNA synthetase 2, mitochondrial	366					gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)|valyl-tRNA aminoacylation (GO:0006438)	mitochondrion (GO:0005739)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|valine-tRNA ligase activity (GO:0004832)			central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(3)|prostate(3)|skin(4)|urinary_tract(1)	46						CGACAGCTTCGTCACCCCTTG	0.597																																						ENST00000321897.5																			0				central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(3)|prostate(3)|skin(4)|urinary_tract(1)	46						c.(1096-1098)cGt>cAt		valyl-tRNA synthetase 2, mitochondrial							265	285	278					6																	30887557		1508	2708	4216	SO:0001583	missense	57176				valyl-tRNA aminoacylation	mitochondrion	ATP binding|valine-tRNA ligase activity	g.chr6:30887557G>A	AB067472	CCDS34387.1, CCDS54980.1	6p21.33	2012-10-26	2012-10-26	2007-02-23	ENSG00000137411	ENSG00000137411	6.1.1.9	"Aminoacyl tRNA synthetases / Class I"	21642	protein-coding gene	gene with protein product	"valine tRNA ligase 2, mitochondrial"	612802	"valyl-tRNA synthetase 2-like", "valyl-tRNA synthetase like", "valyl-tRNA synthetase 2, mitochondrial (putative)"	VARS2L, VARSL		1898367, 11572484, 18400783	Standard	NM_001167734		Approved	DKFZP434L1435, KIAA1885, G7a	uc011dmz.2	Q5ST30	OTTHUMG00000031263	ENST00000321897.5:c.1097G>A	6.37:g.30887557G>A	ENSP00000316092:p.Arg366His					VARS2_ENST00000542001.1_Missense_Mutation_p.R226H|VARS2_ENST00000541562.1_Missense_Mutation_p.R396H|VARS2_ENST00000416670.2_Missense_Mutation_p.R366H	p.R366H			Q5ST30	SYVM_HUMAN			11	1729	+			366					A2ABL7|B4DET4|B4E3P5|F5GXJ0|F5H323|Q2M2A0|Q59FI1|Q5SQ96|Q5SS98|Q6DKJ5|Q6ZV24|Q96GN2|Q96H77|Q96Q02|Q9H6R2|Q9UFH7	Missense_Mutation	SNP	ENST00000321897.5	37	c.1097G>A	CCDS34387.1	.	.	.	.	.	.	.	.	.	.	G	9.380	1.072684	0.20147	.	.	ENSG00000137411	ENST00000321897;ENST00000416670;ENST00000542001;ENST00000541562	T;T;T;T	0.37058	1.22;1.22;1.22;1.22	4.51	3.57	0.40892	Valyl/Leucyl/Isoleucyl-tRNA synthetase, class Ia, editing domain (2);Aminoacyl-tRNA synthetase, class Ia (1);	0.235601	0.40385	N	0.001102	T	0.13670	0.0331	L	0.52905	1.665	0.35137	D	0.768517	B;B;B	0.24675	0.007;0.015;0.109	B;B;B	0.18561	0.01;0.008;0.022	T	0.06954	-1.0798	10	0.26408	T	0.33	-0.3613	5.1511	0.15009	0.1059:0.0:0.6876:0.2065	.	366;396;366	B7ZL25;F5GXJ0;Q5ST30	.;.;SYVM_HUMAN	H	366;366;226;396	ENSP00000316092:R366H;ENSP00000394802:R366H;ENSP00000438200:R226H;ENSP00000441000:R396H	ENSP00000316092:R366H	R	+	2	0	VARS2	30995536	0.462000	0.25791	0.998000	0.56505	0.821000	0.46438	1.382000	0.34374	2.222000	0.72286	0.462000	0.41574	CGT		0.597	VARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076566.2	NM_020442		89	116	0	0	0	1	0	89	116					A	30887557	G	A	30887557	3	1	435	1	0	0	0	0	1	0	0	0	17121	1145	40	1	1233	1	VARS2	6	30887557	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	4595	30887557	140227510	3080	24005											
C6orf15	29113	broad.mit.edu	37	chr6	31079568	31079568	+	Frame_Shift_Del	DEL	T	T	-																															gggagggcgttgggaaaggaTttttcccccggctcccagtg																										TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:31079568delT	ENST00000259870.3	-	2	571	c.568delA	c.(568-570)atcfs	p.I190fs		NM_014070.2	NP_054789.2	Q6UXA7	CF015_HUMAN	chromosome 6 open reading frame 15	190					extracellular matrix organization (GO:0030198)	interstitial matrix (GO:0005614)	heparin binding (GO:0008201)|hyaluronic acid binding (GO:0005540)			endometrium(3)|large_intestine(2)|lung(9)|prostate(1)|skin(1)|stomach(1)	17						TGGGAAAGGATTTTTCCCCCG	0.617																																						ENST00000259870.3																			0				endometrium(3)|large_intestine(2)|lung(9)|prostate(1)|skin(1)|stomach(1)	17						c.(568-570)tcfs		chromosome 6 open reading frame 15							31	34	33					6																	31079568		1768	3438	5206	SO:0001589	frameshift_variant	29113							g.chr6:31079568delT	AB031481	CCDS4693.1	6p21	2011-12-12			ENSG00000204542	ENSG00000204542			13927	protein-coding gene	gene with protein product		611401					Standard	NM_014070		Approved	STG	uc003nsk.1	Q6UXA7	OTTHUMG00000031111	ENST00000259870.3:c.568delA	6.37:g.31079568delT	ENSP00000259870:p.Ile190fs						p.I190fs	NM_014070.2	NP_054789.2	Q6UXA7	CF015_HUMAN			2	571	-			190					B0S7V8|Q0EFA6|Q2L6G7|Q5SQ81|Q86Z05|Q9UIG3	Frame_Shift_Del	DEL	ENST00000259870.3	37	c.568delA	CCDS4693.1																																																																																				0.617	C6orf15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076184.2	NM_014070		13	28						13	28	---	---	---	---	-	31079568	T	-	31079568	7	5	435	1	0	1	0	1	0	0	0	0	2336	1493	52	0	413	0	C6orf15	6	31079568	Frame_Shift_Del	DEL	T	TCGA-XK-AAIW-01A-11D-A41K-08	192011	31079568	140035499	3081	24006											
CCHCR1	54535	broad.mit.edu	37	chr6	31112527	31112527	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgtgtctgagagttgctcccGcagccgagtttccacttcag	6	12	11	12	2	2	1	1	1	1	1	4	3	4	1	3	0	2	4	3	0	0	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:31112527G>A	ENST00000376266.5	-	15	1959	c.1837C>T	c.(1837-1839)Cgg>Tgg	p.R613W	CCHCR1_ENST00000451521.2_Missense_Mutation_p.R666W|CCHCR1_ENST00000396268.3_Missense_Mutation_p.R702W|CCHCR1_ENST00000396263.2_Missense_Mutation_p.R560W	NM_019052.3	NP_061925.2	Q8TD31	CCHCR_HUMAN	coiled-coil alpha-helical rod protein 1	613					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|protein export from nucleus (GO:0006611)	centriole (GO:0005814)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(13)|skin(1)	23						AGTTGCTCCCGCAGCCGAGTT	0.602																																						ENST00000396268.3																			0				breast(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(13)|skin(1)	23						c.(2104-2106)Cgg>Tgg		coiled-coil alpha-helical rod protein 1							141	146	145					6																	31112527		2203	4300	6503	SO:0001583	missense	54535				cell differentiation|multicellular organismal development	cytoplasm|nucleus	protein binding	g.chr6:31112527G>A	AF216493	CCDS4695.1, CCDS43445.1, CCDS47397.1	6p21.3	2007-08-01	2005-02-15	2005-02-16	ENSG00000204536	ENSG00000204536			13930	protein-coding gene	gene with protein product		605310	"chromosome 6 open reading frame 18"	C6orf18		10888604, 10545595	Standard	NM_019052		Approved	HCR	uc003nsp.4	Q8TD31	OTTHUMG00000031112	ENST00000376266.5:c.1837C>T	6.37:g.31112527G>A	ENSP00000365442:p.Arg613Trp					CCHCR1_ENST00000376266.5_Missense_Mutation_p.R613W|CCHCR1_ENST00000451521.2_Missense_Mutation_p.R666W|CCHCR1_ENST00000396263.2_Missense_Mutation_p.R560W	p.R702W	NM_001105563.1|NM_001105564.1	NP_001099033.1|NP_001099034.1	Q8TD31	CCHCR_HUMAN			15	2292	-			613					A2ABH6|E9PE84|Q2TB67|Q5SQ82|Q5STE9|Q9NRK8|Q9NWY9|Q9NXJ4|Q9NXK3|Q9Y6W1|Q9Y6W2	Missense_Mutation	SNP	ENST00000376266.5	37	c.2104C>T	CCDS4695.1	.	.	.	.	.	.	.	.	.	.	G	17.54	3.415693	0.62511	.	.	ENSG00000204536	ENST00000396268;ENST00000376266;ENST00000396263;ENST00000440185;ENST00000451521	T;T;T;T	0.07327	3.2;3.2;3.2;3.2	4.96	3.11	0.35812	.	0.910388	0.09123	N	0.845437	T	0.12008	0.0292	M	0.67953	2.075	0.26631	N	0.97247	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.78314	0.991;0.991;0.971;0.983;0.984	T	0.17410	-1.0370	10	0.72032	D	0.01	-13.0498	5.8283	0.18566	0.1005:0.0:0.7084:0.191	.	613;613;613;666;702	B4DIA2;A8K081;Q8TD31;E9PE84;Q8TD31-2	.;.;CCHCR_HUMAN;.;.	W	702;613;560;613;666	ENSP00000379566:R702W;ENSP00000365442:R613W;ENSP00000379561:R560W;ENSP00000401039:R666W	ENSP00000365442:R613W	R	-	1	2	CCHCR1	31220506	0.992000	0.36948	0.456000	0.27044	0.851000	0.48451	2.162000	0.42367	0.466000	0.27193	0.448000	0.29417	CGG		0.602	CCHCR1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000076190.5	NM_019052		70	93	0	0	0	1	0	70	93					A	31112527	G	A	31112527	3	1	435	1	0	0	0	0	1	0	0	0	2877	1086	38	1	527	1	CCHCR1	6	31112527	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	32959	31112527	140002540	3082	24007											
TCF19	6941	broad.mit.edu	37	chr6	31129716	31129716	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gagtgagcctcctgagaaccCgccaccggtccttatggagc	8	7	12	14	2	0	2	0	2	0	1	2	5	2	3	6	2	3	0	6	2	2	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:31129716C>T	ENST00000376257.3	+	3	1485	c.731C>T	c.(730-732)cCg>cTg	p.P244L	TCF19_ENST00000376255.4_Missense_Mutation_p.P244L|TCF19_ENST00000496421.1_3'UTR	NM_007109.2	NP_009040.2	Q9Y242	TCF19_HUMAN	transcription factor 19	244	Pro-rich.				cell proliferation (GO:0008283)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			kidney(1)|large_intestine(1)|lung(5)|prostate(1)|skin(1)	9						CCTGAGAACCCGCCACCGGTC	0.567																																						ENST00000376257.3																			0				kidney(1)|large_intestine(1)|lung(5)|prostate(1)|skin(1)	9						c.(730-732)cCg>cTg		transcription factor 19							52	59	57					6																	31129716		1247	2549	3796	SO:0001583	missense	6941				cell proliferation|regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr6:31129716C>T	U25826	CCDS43446.1	6p21.3	2013-01-28	2009-02-05		ENSG00000137310	ENSG00000137310		"Zinc fingers, PHD-type"	11629	protein-coding gene	gene with protein product		600912				1868030, 8595903	Standard	NM_001077511		Approved	SC1	uc003nss.3	Q9Y242	OTTHUMG00000031274	ENST00000376257.3:c.731C>T	6.37:g.31129716C>T	ENSP00000365433:p.Pro244Leu					TCF19_ENST00000496421.1_3'UTR|TCF19_ENST00000376255.4_Missense_Mutation_p.P244L	p.P244L	NM_007109.2	NP_009040.2	Q9Y242	TCF19_HUMAN			3	1485	+			244			Pro-rich.		A6NCT8|B0UY11|Q0EFA8|Q13176|Q15967|Q5SQ89|Q5STD6|Q5STF5|Q9BUM2|Q9UBH7	Missense_Mutation	SNP	ENST00000376257.3	37	c.731C>T	CCDS43446.1	.	.	.	.	.	.	.	.	.	.	C	11.64	1.698893	0.30142	.	.	ENSG00000137310	ENST00000376257;ENST00000376255;ENST00000542218	T;T;T	0.22539	1.99;1.99;1.95	5.49	3.69	0.42338	.	0.641630	0.16620	N	0.206513	T	0.04952	0.0133	L	0.29908	0.895	0.09310	N	1	B	0.16802	0.019	B	0.08055	0.003	T	0.34650	-0.9820	10	0.38643	T	0.18	-48.2197	7.0356	0.24991	0.1709:0.7408:0.0:0.0883	.	244	Q9Y242	TCF19_HUMAN	L	244;244;164	ENSP00000365433:P244L;ENSP00000365431:P244L;ENSP00000439397:P164L	ENSP00000365431:P244L	P	+	2	0	TCF19	31237695	0.006000	0.16342	0.001000	0.08648	0.053000	0.15095	-0.017000	0.12590	0.670000	0.31165	-0.183000	0.12914	CCG		0.567	TCF19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076595.2	NM_007109		19	22	0	0	0	1	0	19	22					T	31129716	C	T	31129716	3	4	435	1	0	0	0	0	1	0	0	0	15686	652	23	2	737	2	TCF19	6	31129716	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	17189	31129716	139985351	3083	24008											
BAT1	7919	broad.mit.edu	37	chr6	31508224	31508224	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgacatccttcttggcagggGcctcagccccatctccccca	6	9	8	18	0	3	1	1	1	2	0	5	1	4	1	6	3	1	1	6	3	0	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:31508224G>C	ENST00000396172.1	-	2	716	c.86C>G	c.(85-87)gCc>gGc	p.A29G	DDX39B_ENST00000417556.2_Missense_Mutation_p.A29G|SNORD84_ENST00000584275.1_RNA|DDX39B_ENST00000376177.2_Missense_Mutation_p.A29G|DDX39B-AS1_ENST00000420520.1_RNA|DDX39B_ENST00000449074.2_Missense_Mutation_p.A29G|DDX39B_ENST00000458640.1_Missense_Mutation_p.A29G|ATP6V1G2-DDX39B_ENST00000376185.1_3'UTR|DDX39B-AS1_ENST00000416684.1_RNA|DDX39B_ENST00000415382.2_Missense_Mutation_p.P25A|DDX39B_ENST00000453105.2_Missense_Mutation_p.P25A|ATP6V1G2-DDX39B_ENST00000475917.1_5'Flank	NM_004640.6	NP_004631.1	Q13838	DX39B_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 39B	29					ATP catabolic process (GO:0006200)|mRNA export from nucleus (GO:0006406)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of DNA damage checkpoint (GO:2000002)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|RNA secondary structure unwinding (GO:0010501)|RNA splicing (GO:0008380)|spliceosomal complex assembly (GO:0000245)|viral mRNA export from host cell nucleus (GO:0046784)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|transcription export complex (GO:0000346)	ATP binding (GO:0005524)|ATP-dependent protein binding (GO:0043008)|ATP-dependent RNA helicase activity (GO:0004004)|poly(A) RNA binding (GO:0044822)|RNA-dependent ATPase activity (GO:0008186)|U4 snRNA binding (GO:0030621)|U6 snRNA binding (GO:0017070)			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19						CTTGGCAGGGGCCTCAGCCCC	0.572																																						ENST00000417556.2																			0				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19						c.(85-87)gCc>gGc		DEAD (Asp-Glu-Ala-Asp) box polypeptide 39B							87	82	84					6																	31508224		2203	4300	6503	SO:0001583	missense	7919				intronless viral mRNA export from host nucleus|RNA secondary structure unwinding|spliceosome assembly	nuclear speck|spliceosomal complex|transcription export complex	ATP binding|ATP-dependent protein binding|ATP-dependent RNA helicase activity|identical protein binding|U4 snRNA binding|U6 snRNA binding	g.chr6:31508224G>C	Z37166	CCDS4697.1	6p21.33	2011-02-09	2011-02-08	2011-02-08	ENSG00000198563	ENSG00000198563		"DEAD-boxes"	13917	protein-coding gene	gene with protein product	"U2AF65-associated protein 56"	142560	"HLA-B associated transcript 1"	BAT1		7601445, 2813433	Standard	NM_004640		Approved	D6S81E, UAP56	uc003ntu.3	Q13838	OTTHUMG00000031165	ENST00000396172.1:c.86C>G	6.37:g.31508224G>C	ENSP00000379475:p.Ala29Gly					DDX39B_ENST00000396172.1_Missense_Mutation_p.A29G|DDX39B_ENST00000453105.2_Missense_Mutation_p.P25A|DDX39B_ENST00000376177.2_Missense_Mutation_p.A29G|DDX39B_ENST00000458640.1_Missense_Mutation_p.A29G|ATP6V1G2-DDX39B_ENST00000376185.1_3'UTR|DDX39B_ENST00000415382.2_Missense_Mutation_p.P25A|DDX39B_ENST00000449074.2_Missense_Mutation_p.A29G	p.A29G			Q13838	DX39B_HUMAN			2	716	-			29					B0S8C0|O43496|Q0EFA1|Q2L6F9|Q53GL9|Q5RJ64|Q5RJ66|Q5ST94|Q5STB4|Q5STB5|Q5STB7|Q5STB8|Q5STU4|Q5STU5|Q5STU6|Q5STU8|Q71V76	Missense_Mutation	SNP	ENST00000396172.1	37	c.86C>G	CCDS4697.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.81|17.81	3.481766|3.481766	0.63849|0.63849	.|.	.|.	ENSG00000198563|ENSG00000198563	ENST00000376177;ENST00000458640;ENST00000396172;ENST00000417556;ENST00000427214;ENST00000428098;ENST00000419338;ENST00000456662;ENST00000449074;ENST00000428450;ENST00000449757;ENST00000456976;ENST00000418897;ENST00000419020;ENST00000458215|ENST00000415382;ENST00000431908;ENST00000453105	T;T;T;T;T;T;T;T;T;T;T;T;T;T|T;T;T	0.46063|0.44482	0.88;0.88;0.88;0.88;0.88;0.88;0.88;0.88;0.88;0.88;0.88;0.88;0.88;0.88|0.92;2.56;3.22	5.53|5.53	5.53|5.53	0.82687|0.82687	.|.	0.224173|.	0.38217|.	N|.	0.001779|.	T|T	0.47948|0.47948	0.1473|0.1473	L|L	0.38175|0.38175	1.15|1.15	0.50467|0.50467	D|D	0.999877|0.999877	B;B;B|D;B;D	0.09022|0.89917	0.001;0.0;0.002|1.0;0.007;0.999	B;B;B|D;B;D	0.08055|0.78314	0.003;0.001;0.003|0.991;0.028;0.979	T|T	0.48917|0.48917	-0.8992|-0.8992	10|9	0.19147|0.62326	T|D	0.46|0.03	-13.377|-13.377	16.9509|16.9509	0.86245|0.86245	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	49;29;29|25;25;25	Q59G92;Q13838;Q5STU3|B4DIZ8;B4DIJ6;B4DP52	.;DX39B_HUMAN;.|.;.;.	G|A	29;29;29;29;29;29;29;29;29;29;52;29;44;29;29|25	ENSP00000365347:A29G;ENSP00000416269:A29G;ENSP00000379475:A29G;ENSP00000412582:A29G;ENSP00000399371:A29G;ENSP00000392672:A29G;ENSP00000410313:A29G;ENSP00000416350:A29G;ENSP00000391946:A29G;ENSP00000405707:A29G;ENSP00000409426:A52G;ENSP00000393984:A29G;ENSP00000399841:A44G;ENSP00000405245:A29G|ENSP00000392669:P25A;ENSP00000408000:P25A;ENSP00000400328:P25A	ENSP00000365347:A29G|ENSP00000392669:P25A	A|P	-|-	2|1	0|0	DDX39B|DDX39B	31616203|31616203	0.994000|0.994000	0.37717|0.37717	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	2.551000|2.551000	0.45820|0.45820	2.592000|2.592000	0.87571|0.87571	0.563000|0.563000	0.77884|0.77884	GCC|CCC		0.572	DDX39B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259083.1	NM_004640		19	50	0	0	0	1	0	19	50					C	31508224	G	C	31508224	3	2	435	1	0	0	0	0	1	0	0	0	1318	1203	42	5	1240	5	BAT1	6	31508224	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	378508	31508224	139606843	3084	24009											
BAT3	7917	broad.mit.edu	37	chr6	31608180	31608180	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	actggggggactgcagctgcCcaaggttctgtctcagctga	7	9	14	11	0	2	1	1	1	2	0	3	2	2	2	1	4	4	4	1	4	1	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:31608180C>T	ENST00000375964.6	-	22	3343	c.3030G>A	c.(3028-3030)tgG>tgA	p.W1010*	BAG6_ENST00000362049.6_Nonsense_Mutation_p.W1004*|BAG6_ENST00000439687.2_Intron|BAG6_ENST00000470875.1_5'Flank|BAG6_ENST00000211379.5_Nonsense_Mutation_p.W1004*|BAG6_ENST00000404765.2_Nonsense_Mutation_p.W1040*|BAG6_ENST00000375976.4_Nonsense_Mutation_p.W1004*	NM_004639.3|NM_080703.2	NP_004630.3|NP_542434.1	P46379	BAG6_HUMAN	BCL2-associated athanogene 6	1010					brain development (GO:0007420)|cell differentiation (GO:0030154)|chromatin modification (GO:0016568)|embryo development (GO:0009790)|immune system process (GO:0002376)|internal peptidyl-lysine acetylation (GO:0018393)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|kidney development (GO:0001822)|lung development (GO:0030324)|negative regulation of apoptotic process (GO:0043066)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|negative regulation of proteolysis (GO:0045861)|protein stabilization (GO:0050821)|regulation of cell proliferation (GO:0042127)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)|tail-anchored membrane protein insertion into ER membrane (GO:0071816)|transport (GO:0006810)|ubiquitin-dependent protein catabolic process (GO:0006511)	BAT3 complex (GO:0071818)|cytosol (GO:0005829)|nucleus (GO:0005634)	polyubiquitin binding (GO:0031593)|proteasome binding (GO:0070628)|ribosome binding (GO:0043022)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(2)|pancreas(2)|skin(3)|urinary_tract(2)	36						CTGCAGCTGCCCAAGGTTCTG	0.547																																						ENST00000404765.2																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(2)|pancreas(2)|skin(3)|urinary_tract(2)	36						c.(3118-3120)tgG>tgA		BCL2-associated athanogene 6							121	143	135					6																	31608180		1511	2709	4220	SO:0001587	stop_gained	7917				apoptosis in response to endoplasmic reticulum stress|brain development|cell differentiation|chromatin modification|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|embryo development|internal peptidyl-lysine acetylation|kidney development|lung development|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|protein stabilization|spermatogenesis|synaptonemal complex assembly|tail-anchored membrane protein insertion into ER membrane|transport|ubiquitin-dependent protein catabolic process	BAT3 complex|nucleus	polyubiquitin binding|proteasome binding|ribosome binding	g.chr6:31608180C>T	M31294	CCDS4709.1, CCDS47403.1, CCDS56414.1, CCDS56415.1	6p21.3	2011-06-14	2010-12-09	2010-12-09	ENSG00000204463	ENSG00000204463			13919	protein-coding gene	gene with protein product		142590	"HLA-B associated transcript 3"	BAT3		2156268	Standard	NM_004639		Approved	G3, D6S52E	uc003nvf.4	P46379	OTTHUMG00000031171	ENST00000375964.6:c.3030G>A	6.37:g.31608180C>T	ENSP00000365131:p.Trp1010*					BAG6_ENST00000375976.4_Nonsense_Mutation_p.W1004*|BAG6_ENST00000362049.6_Nonsense_Mutation_p.W1004*|BAG6_ENST00000211379.5_Nonsense_Mutation_p.W1004*|BAG6_ENST00000439687.2_Intron|BAG6_ENST00000375964.6_Nonsense_Mutation_p.W1010*	p.W1040*			P46379	BAG6_HUMAN			23	3409	-			1010					A2ADJ7|A3KQ42|A3KQ44|A6NGY6|A6PWF7|B0UX84|B4DZ12|B4E3V4|E7EMZ4|F8VXY4|O95874|Q5HYL9|Q5SQ35|Q5SQ36|Q5SQ37|Q5SQ41|Q5SRP8|Q5SRP9|Q5STC1|Q5STX1|Q5STX3|Q96SA6|Q9BCN4	Nonsense_Mutation	SNP	ENST00000375964.6	37	c.3120G>A	CCDS47403.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	42|42	9.644768|9.644768	0.99227|0.99227	.|.	.|.	ENSG00000204463|ENSG00000204463	ENST00000441793|ENST00000375976;ENST00000375964;ENST00000211379;ENST00000404765;ENST00000362049	.|.	.|.	.|.	5.35|5.35	4.48|4.48	0.54585|0.54585	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|.	0.16471|.	0.0396|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.07177|.	-1.0786|.	3|.	.|0.02654	.|T	.|1	.|.	13.585|13.585	0.61926|0.61926	0.0:0.9238:0.0:0.0762|0.0:0.9238:0.0:0.0762	.|.	.|.	.|.	.|.	E|X	153|1004;1010;1004;1040;1004	.|.	.|ENSP00000211379:W1004X	G|W	-|-	2|3	0|0	BAG6|BAG6	31716159|31716159	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.991000|0.991000	0.79684|0.79684	3.051000|3.051000	0.49885|0.49885	1.626000|1.626000	0.50381|0.50381	0.655000|0.655000	0.94253|0.94253	GGG|TGG		0.547	BAG6-203	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_080703		37	53	0	0	0	1	0	37	53					T	31608180	C	T	31608180	4	4	435	1	0	0	0	0	0	1	0	0	1322	624	22	3	384	3	BAT3	6	31608180	Nonsense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	99956	31608180	139506887	3085	24010											
BAT3	7917	broad.mit.edu	37	chr6	31608917	31608917	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acagcagcaagctccatctgCtgtccccccaagcagtgcag	10	6	9	16	0	1	0	0	0	1	0	3	0	3	0	4	0	6	6	4	0	2	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:31608917C>A	ENST00000375964.6	-	19	2974	c.2661G>T	c.(2659-2661)caG>caT	p.Q887H	BAG6_ENST00000362049.6_Missense_Mutation_p.Q881H|BAG6_ENST00000439687.2_Missense_Mutation_p.Q755H|BAG6_ENST00000470875.1_5'Flank|BAG6_ENST00000211379.5_Missense_Mutation_p.Q881H|BAG6_ENST00000404765.2_Missense_Mutation_p.Q917H|BAG6_ENST00000375976.4_Missense_Mutation_p.Q881H	NM_004639.3|NM_080703.2	NP_004630.3|NP_542434.1	P46379	BAG6_HUMAN	BCL2-associated athanogene 6	887					brain development (GO:0007420)|cell differentiation (GO:0030154)|chromatin modification (GO:0016568)|embryo development (GO:0009790)|immune system process (GO:0002376)|internal peptidyl-lysine acetylation (GO:0018393)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|kidney development (GO:0001822)|lung development (GO:0030324)|negative regulation of apoptotic process (GO:0043066)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|negative regulation of proteolysis (GO:0045861)|protein stabilization (GO:0050821)|regulation of cell proliferation (GO:0042127)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)|tail-anchored membrane protein insertion into ER membrane (GO:0071816)|transport (GO:0006810)|ubiquitin-dependent protein catabolic process (GO:0006511)	BAT3 complex (GO:0071818)|cytosol (GO:0005829)|nucleus (GO:0005634)	polyubiquitin binding (GO:0031593)|proteasome binding (GO:0070628)|ribosome binding (GO:0043022)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(2)|pancreas(2)|skin(3)|urinary_tract(2)	36						GCTCCATCTGCTGTCCCCCCA	0.517																																						ENST00000404765.2																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(2)|pancreas(2)|skin(3)|urinary_tract(2)	36						c.(2749-2751)caG>caT		BCL2-associated athanogene 6							131	142	138					6																	31608917		1511	2709	4220	SO:0001583	missense	7917				apoptosis in response to endoplasmic reticulum stress|brain development|cell differentiation|chromatin modification|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|embryo development|internal peptidyl-lysine acetylation|kidney development|lung development|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|protein stabilization|spermatogenesis|synaptonemal complex assembly|tail-anchored membrane protein insertion into ER membrane|transport|ubiquitin-dependent protein catabolic process	BAT3 complex|nucleus	polyubiquitin binding|proteasome binding|ribosome binding	g.chr6:31608917C>A	M31294	CCDS4709.1, CCDS47403.1, CCDS56414.1, CCDS56415.1	6p21.3	2011-06-14	2010-12-09	2010-12-09	ENSG00000204463	ENSG00000204463			13919	protein-coding gene	gene with protein product		142590	"HLA-B associated transcript 3"	BAT3		2156268	Standard	NM_004639		Approved	G3, D6S52E	uc003nvf.4	P46379	OTTHUMG00000031171	ENST00000375964.6:c.2661G>T	6.37:g.31608917C>A	ENSP00000365131:p.Gln887His					BAG6_ENST00000375976.4_Missense_Mutation_p.Q881H|BAG6_ENST00000362049.6_Missense_Mutation_p.Q881H|BAG6_ENST00000211379.5_Missense_Mutation_p.Q881H|BAG6_ENST00000439687.2_Missense_Mutation_p.Q755H|BAG6_ENST00000375964.6_Missense_Mutation_p.Q887H	p.Q917H			P46379	BAG6_HUMAN			20	3040	-			887					A2ADJ7|A3KQ42|A3KQ44|A6NGY6|A6PWF7|B0UX84|B4DZ12|B4E3V4|E7EMZ4|F8VXY4|O95874|Q5HYL9|Q5SQ35|Q5SQ36|Q5SQ37|Q5SQ41|Q5SRP8|Q5SRP9|Q5STC1|Q5STX1|Q5STX3|Q96SA6|Q9BCN4	Missense_Mutation	SNP	ENST00000375964.6	37	c.2751G>T	CCDS47403.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.16|15.16	2.752201|2.752201	0.49362|0.49362	.|.	.|.	ENSG00000204463|ENSG00000204463	ENST00000375976;ENST00000375964;ENST00000211379;ENST00000404765;ENST00000439687;ENST00000362049|ENST00000441793	T;T;T;T;T;T|.	0.50548|.	1.4;1.4;1.4;1.41;0.74;1.4|.	5.51|5.51	3.74|3.74	0.42951|0.42951	.|.	0.222459|.	0.46145|.	D|.	0.000316|.	T|T	0.16981|0.16981	0.0408|0.0408	N|N	0.22421|0.22421	0.69|0.69	0.32133|0.32133	N|N	0.5865|0.5865	D;D;D;D|.	0.67145|.	0.984;0.994;0.993;0.996|.	P;P;P;D|.	0.67382|.	0.623;0.86;0.903;0.951|.	T|T	0.11251|0.11251	-1.0595|-1.0595	10|5	0.56958|.	D|.	0.05|.	.|.	7.1028|7.1028	0.25346|0.25346	0.0:0.7038:0.141:0.1552|0.0:0.7038:0.141:0.1552	.|.	755;881;887;881|.	E7EMZ4;F8VXY4;P46379;P46379-2|.	.;.;BAG6_HUMAN;.|.	H|I	881;887;881;917;755;881|30	ENSP00000365143:Q881H;ENSP00000365131:Q887H;ENSP00000211379:Q881H;ENSP00000384494:Q917H;ENSP00000402856:Q755H;ENSP00000354875:Q881H|.	ENSP00000211379:Q881H|.	Q|S	-|-	3|2	2|0	BAG6|BAG6	31716896|31716896	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.956000|0.956000	0.61745|0.61745	0.580000|0.580000	0.23803|0.23803	0.706000|0.706000	0.31912|0.31912	-0.480000|-0.480000	0.04831|0.04831	CAG|AGC		0.517	BAG6-203	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_080703		33	45	1	0	3.86903e-22	1	4.30158e-22	33	45					A	31608917	C	A	31608917	3	1	435	1	0	0	0	0	1	0	0	0	1322	796	28	5	765	5	BAT3	6	31608917	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	737	31608917	139506150	3086	24011											
BAT3	7917	broad.mit.edu	37	chr6	31614220	31614220	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cacccagaacctcgtagtagCgctgcaagaagggctggagg	11	5	14	11	2	0	2	0	0	0	2	1	3	0	3	2	3	3	5	2	3	5	2	rs143680960		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:31614220C>T	ENST00000375964.6	-	8	1200	c.887G>A	c.(886-888)cGc>cAc	p.R296H	BAG6_ENST00000362049.6_Missense_Mutation_p.R290H|BAG6_ENST00000439687.2_Missense_Mutation_p.R290H|BAG6_ENST00000470875.1_5'Flank|BAG6_ENST00000211379.5_Missense_Mutation_p.R290H|BAG6_ENST00000404765.2_Missense_Mutation_p.R290H|BAG6_ENST00000375976.4_Missense_Mutation_p.R290H	NM_004639.3|NM_080703.2	NP_004630.3|NP_542434.1	P46379	BAG6_HUMAN	BCL2-associated athanogene 6	296	4 X 29 AA approximate repeats.				brain development (GO:0007420)|cell differentiation (GO:0030154)|chromatin modification (GO:0016568)|embryo development (GO:0009790)|immune system process (GO:0002376)|internal peptidyl-lysine acetylation (GO:0018393)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|kidney development (GO:0001822)|lung development (GO:0030324)|negative regulation of apoptotic process (GO:0043066)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|negative regulation of proteolysis (GO:0045861)|protein stabilization (GO:0050821)|regulation of cell proliferation (GO:0042127)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)|tail-anchored membrane protein insertion into ER membrane (GO:0071816)|transport (GO:0006810)|ubiquitin-dependent protein catabolic process (GO:0006511)	BAT3 complex (GO:0071818)|cytosol (GO:0005829)|nucleus (GO:0005634)	polyubiquitin binding (GO:0031593)|proteasome binding (GO:0070628)|ribosome binding (GO:0043022)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(2)|pancreas(2)|skin(3)|urinary_tract(2)	36						CTCGTAGTAGCGCTGCAAGAA	0.592																																						ENST00000404765.2																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(2)|pancreas(2)|skin(3)|urinary_tract(2)	36						c.(868-870)cGc>cAc		BCL2-associated athanogene 6		C	HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG	1,3021		0,1,1510	114	111	112		869,869,869,887,869,869	4.3	1	6	dbSNP_134	112	0,5418		0,0,2709	no	missense,missense,missense,missense,missense,missense	BAG6	NM_001098534.1,NM_001199697.1,NM_001199698.1,NM_004639.3,NM_080702.2,NM_080703.2	29,29,29,29,29,29	0,1,4219	TT,TC,CC		0.0,0.0331,0.0118	possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging	290/1127,290/904,290/1078,296/1133,290/1127,290/1127	31614220	1,8439	1511	2709	4220	SO:0001583	missense	7917				apoptosis in response to endoplasmic reticulum stress|brain development|cell differentiation|chromatin modification|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|embryo development|internal peptidyl-lysine acetylation|kidney development|lung development|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|protein stabilization|spermatogenesis|synaptonemal complex assembly|tail-anchored membrane protein insertion into ER membrane|transport|ubiquitin-dependent protein catabolic process	BAT3 complex|nucleus	polyubiquitin binding|proteasome binding|ribosome binding	g.chr6:31614220C>T	M31294	CCDS4709.1, CCDS47403.1, CCDS56414.1, CCDS56415.1	6p21.3	2011-06-14	2010-12-09	2010-12-09	ENSG00000204463	ENSG00000204463			13919	protein-coding gene	gene with protein product		142590	"HLA-B associated transcript 3"	BAT3		2156268	Standard	NM_004639		Approved	G3, D6S52E	uc003nvf.4	P46379	OTTHUMG00000031171	ENST00000375964.6:c.887G>A	6.37:g.31614220C>T	ENSP00000365131:p.Arg296His					BAG6_ENST00000375976.4_Missense_Mutation_p.R290H|BAG6_ENST00000362049.6_Missense_Mutation_p.R290H|BAG6_ENST00000211379.5_Missense_Mutation_p.R290H|BAG6_ENST00000439687.2_Missense_Mutation_p.R290H|BAG6_ENST00000375964.6_Missense_Mutation_p.R296H	p.R290H			P46379	BAG6_HUMAN			8	1158	-			296			4 X 29 AA approximate repeats.		A2ADJ7|A3KQ42|A3KQ44|A6NGY6|A6PWF7|B0UX84|B4DZ12|B4E3V4|E7EMZ4|F8VXY4|O95874|Q5HYL9|Q5SQ35|Q5SQ36|Q5SQ37|Q5SQ41|Q5SRP8|Q5SRP9|Q5STC1|Q5STX1|Q5STX3|Q96SA6|Q9BCN4	Missense_Mutation	SNP	ENST00000375964.6	37	c.869G>A	CCDS47403.1	.	.	.	.	.	.	.	.	.	.	C	18.09	3.545717	0.65198	3.31E-4	0.0	ENSG00000204463	ENST00000375976;ENST00000375964;ENST00000211379;ENST00000404765;ENST00000439687;ENST00000362049;ENST00000437771;ENST00000435080	T;T;T;T;T;T;T	0.60299	0.78;0.88;0.78;0.78;0.37;0.8;0.2	5.17	4.31	0.51392	.	0.000000	0.85682	D	0.000000	T	0.65291	0.2677	M	0.73217	2.22	0.51767	D	0.999932	D;D;D;D;D	0.89917	1.0;1.0;0.998;0.963;0.999	D;D;D;P;D	0.83275	0.995;0.996;0.956;0.493;0.991	T	0.67425	-0.5674	10	0.42905	T	0.14	.	12.6142	0.56567	0.0:0.918:0.0:0.082	.	290;290;290;296;290	E7EMZ4;F8VXY4;B0UX85;P46379;P46379-2	.;.;.;BAG6_HUMAN;.	H	290;296;290;290;290;290;290;290	ENSP00000365143:R290H;ENSP00000365131:R296H;ENSP00000211379:R290H;ENSP00000384494:R290H;ENSP00000402856:R290H;ENSP00000354875:R290H;ENSP00000397978:R290H	ENSP00000211379:R290H	R	-	2	0	BAG6	31722199	1.000000	0.71417	1.000000	0.80357	0.736000	0.42039	6.070000	0.71220	1.188000	0.43014	-0.253000	0.11424	CGC		0.592	BAG6-203	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_080703		16	25	0	0	0	1	0	16	25					T	31614220	C	T	31614220	3	4	435	1	0	0	0	0	1	0	0	0	1322	768	27	1	2583	1	BAT3	6	31614220	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	5303	31614220	139500847	3087	24012											
BAT3	7917	broad.mit.edu	37	chr6	31614295	31614295	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgacatactccgcaggggaaGgatggctgtggacaaaccca	12	5	13	11	2	0	0	0	0	0	0	1	4	1	3	2	5	2	2	2	5	3	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:31614295G>T	ENST00000375964.6	-	8	1125	c.812C>A	c.(811-813)cCt>cAt	p.P271H	BAG6_ENST00000362049.6_Missense_Mutation_p.P265H|BAG6_ENST00000439687.2_Missense_Mutation_p.P265H|BAG6_ENST00000470875.1_5'Flank|BAG6_ENST00000211379.5_Missense_Mutation_p.P265H|BAG6_ENST00000404765.2_Missense_Mutation_p.P265H|BAG6_ENST00000375976.4_Missense_Mutation_p.P265H	NM_004639.3|NM_080703.2	NP_004630.3|NP_542434.1	P46379	BAG6_HUMAN	BCL2-associated athanogene 6	271	4 X 29 AA approximate repeats.|Pro-rich.				brain development (GO:0007420)|cell differentiation (GO:0030154)|chromatin modification (GO:0016568)|embryo development (GO:0009790)|immune system process (GO:0002376)|internal peptidyl-lysine acetylation (GO:0018393)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|kidney development (GO:0001822)|lung development (GO:0030324)|negative regulation of apoptotic process (GO:0043066)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|negative regulation of proteolysis (GO:0045861)|protein stabilization (GO:0050821)|regulation of cell proliferation (GO:0042127)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)|tail-anchored membrane protein insertion into ER membrane (GO:0071816)|transport (GO:0006810)|ubiquitin-dependent protein catabolic process (GO:0006511)	BAT3 complex (GO:0071818)|cytosol (GO:0005829)|nucleus (GO:0005634)	polyubiquitin binding (GO:0031593)|proteasome binding (GO:0070628)|ribosome binding (GO:0043022)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(2)|pancreas(2)|skin(3)|urinary_tract(2)	36						CGCAGGGGAAGGATGGCTGTG	0.592																																						ENST00000404765.2																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(2)|pancreas(2)|skin(3)|urinary_tract(2)	36						c.(793-795)cCt>cAt		BCL2-associated athanogene 6							99	103	101					6																	31614295		1511	2709	4220	SO:0001583	missense	7917				apoptosis in response to endoplasmic reticulum stress|brain development|cell differentiation|chromatin modification|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|embryo development|internal peptidyl-lysine acetylation|kidney development|lung development|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|protein stabilization|spermatogenesis|synaptonemal complex assembly|tail-anchored membrane protein insertion into ER membrane|transport|ubiquitin-dependent protein catabolic process	BAT3 complex|nucleus	polyubiquitin binding|proteasome binding|ribosome binding	g.chr6:31614295G>T	M31294	CCDS4709.1, CCDS47403.1, CCDS56414.1, CCDS56415.1	6p21.3	2011-06-14	2010-12-09	2010-12-09	ENSG00000204463	ENSG00000204463			13919	protein-coding gene	gene with protein product		142590	"HLA-B associated transcript 3"	BAT3		2156268	Standard	NM_004639		Approved	G3, D6S52E	uc003nvf.4	P46379	OTTHUMG00000031171	ENST00000375964.6:c.812C>A	6.37:g.31614295G>T	ENSP00000365131:p.Pro271His					BAG6_ENST00000375976.4_Missense_Mutation_p.P265H|BAG6_ENST00000362049.6_Missense_Mutation_p.P265H|BAG6_ENST00000211379.5_Missense_Mutation_p.P265H|BAG6_ENST00000439687.2_Missense_Mutation_p.P265H|BAG6_ENST00000375964.6_Missense_Mutation_p.P271H	p.P265H			P46379	BAG6_HUMAN			8	1083	-			271			4 X 29 AA approximate repeats.|Pro-rich.		A2ADJ7|A3KQ42|A3KQ44|A6NGY6|A6PWF7|B0UX84|B4DZ12|B4E3V4|E7EMZ4|F8VXY4|O95874|Q5HYL9|Q5SQ35|Q5SQ36|Q5SQ37|Q5SQ41|Q5SRP8|Q5SRP9|Q5STC1|Q5STX1|Q5STX3|Q96SA6|Q9BCN4	Missense_Mutation	SNP	ENST00000375964.6	37	c.794C>A	CCDS47403.1	.	.	.	.	.	.	.	.	.	.	G	26.7	4.761216	0.89932	.	.	ENSG00000204463	ENST00000375976;ENST00000375964;ENST00000211379;ENST00000404765;ENST00000439687;ENST00000362049;ENST00000437771;ENST00000435080	T;T;T;T;T;T;T	0.59638	0.86;0.84;0.86;0.86;0.32;0.89;0.25	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	T	0.66944	0.2841	L	0.48642	1.525	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.87578	0.996;0.998;0.997;0.996;0.998	T	0.69000	-0.5261	10	0.87932	D	0	.	18.5923	0.91218	0.0:0.0:1.0:0.0	.	265;265;265;271;265	E7EMZ4;F8VXY4;B0UX85;P46379;P46379-2	.;.;.;BAG6_HUMAN;.	H	265;271;265;265;265;265;265;265	ENSP00000365143:P265H;ENSP00000365131:P271H;ENSP00000211379:P265H;ENSP00000384494:P265H;ENSP00000402856:P265H;ENSP00000354875:P265H;ENSP00000397978:P265H	ENSP00000211379:P265H	P	-	2	0	BAG6	31722274	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	7.677000	0.84024	2.688000	0.91661	0.563000	0.77884	CCT		0.592	BAG6-203	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_080703		16	39	1	0	1.02788e-11	1	1.10723e-11	16	39					T	31614295	G	T	31614295	3	4	435	1	0	0	0	0	1	0	0	0	1322	1000	35	5	2658	5	BAT3	6	31614295	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	75	31614295	139500772	3088	24013											
CSNK2B	1460	broad.mit.edu	37	chr6	31637620	31637620	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgccctggcctaggctctacGgtttcaagatccatccgatg	7	11	10	13	2	2	1	1	0	1	1	4	2	4	1	4	3	2	2	4	3	3	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:31637620G>A	ENST00000375882.2	+	7	721	c.565G>A	c.(565-567)Ggt>Agt	p.G189S	CSNK2B_ENST00000375866.2_Missense_Mutation_p.G189S|CSNK2B-LY6G5B-1181_ENST00000375880.2_Intron|LY6G5B_ENST00000409525.1_5'Flank|CSNK2B_ENST00000375885.4_Missense_Mutation_p.G208S|LY6G5B_ENST00000375864.4_5'Flank|CSNK2B_ENST00000375865.2_Missense_Mutation_p.G189S	NM_001282385.1|NM_001320.5	NP_001269314.1|NP_001311.3	P67870	CSK2B_HUMAN	casein kinase 2, beta polypeptide	189	Interaction with alpha subunit. {ECO:0000250}.				adiponectin-activated signaling pathway (GO:0033211)|axon guidance (GO:0007411)|cellular protein complex assembly (GO:0043623)|endothelial tube morphogenesis (GO:0061154)|mitotic cell cycle (GO:0000278)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|negative regulation of cell proliferation (GO:0008285)|positive regulation of activin receptor signaling pathway (GO:0032927)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|protein phosphorylation (GO:0006468)|regulation of DNA binding (GO:0051101)|regulation of protein kinase activity (GO:0045859)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|protein kinase CK2 complex (GO:0005956)	identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein domain specific binding (GO:0019904)|protein kinase regulator activity (GO:0019887)|receptor binding (GO:0005102)|transcription factor binding (GO:0008134)			central_nervous_system(5)|endometrium(1)|large_intestine(2)|liver(1)|urinary_tract(1)	10						TAGGCTCTACGGTTTCAAGAT	0.612																																						ENST00000375885.4																			0				central_nervous_system(5)|endometrium(1)|large_intestine(2)|liver(1)|urinary_tract(1)	10						c.(622-624)Ggt>Agt		casein kinase 2, beta polypeptide							112	81	92					6																	31637620		1511	2709	4220	SO:0001583	missense	1460				adiponectin-mediated signaling pathway|axon guidance|cellular protein complex assembly|negative regulation of cell proliferation|regulation of DNA binding|Wnt receptor signaling pathway	cytosol|nucleus|protein kinase CK2 complex	identical protein binding|protein domain specific binding|protein kinase regulator activity|receptor binding|transcription factor binding	g.chr6:31637620G>A	M30448	CCDS4712.1	6p21.33	2013-01-17			ENSG00000204435	ENSG00000204435	2.7.11.1		2460	protein-coding gene	gene with protein product		115441				2276748, 9503014	Standard	NM_001320		Approved		uc003nvr.1	P67870	OTTHUMG00000177888	ENST00000375882.2:c.565G>A	6.37:g.31637620G>A	ENSP00000365042:p.Gly189Ser					CSNK2B_ENST00000375866.2_Missense_Mutation_p.G189S|CSNK2B_ENST00000375865.2_Missense_Mutation_p.G189S|CSNK2B_ENST00000375882.2_Missense_Mutation_p.G189S|CSNK2B-LY6G5B-1181_ENST00000375880.2_Intron	p.G208S			P67870	CSK2B_HUMAN			7	834	+			189					B0UXA9|P07312|P13862|Q4VX47	Missense_Mutation	SNP	ENST00000375882.2	37	c.622G>A	CCDS4712.1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.442708	0.83993	.	.	ENSG00000204435	ENST00000375885;ENST00000375882;ENST00000375865;ENST00000375866	.	.	.	5.4	4.54	0.55810	.	0.160108	0.56097	N	0.000039	T	0.80571	0.4648	H	0.95365	3.66	0.54753	D	0.999983	D	0.89917	1.0	D	0.97110	1.0	D	0.86597	0.1864	8	0.72032	D	0.01	-3.4467	11.9911	0.53176	0.0831:0.0:0.9169:0.0	.	189	P67870	CSK2B_HUMAN	S	208;189;189;189	.	ENSP00000365025:G189S	G	+	1	0	CSNK2B	31745599	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	8.404000	0.90210	1.526000	0.49068	0.563000	0.77884	GGT		0.612	CSNK2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076063.8	NM_001320		16	25	0	0	0	1	0	16	25					A	31637620	G	A	31637620	3	1	435	1	0	0	0	0	1	0	0	0	3959	1116	39	2	587	2	CSNK2B	6	31637620	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	23325	31637620	139477447	3089	24014											
BAT5	7920	broad.mit.edu	37	chr6	31659444	31659444	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cacaggccagcagctttgccCggcgcccattacactgagta	9	7	10	15	2	0	1	0	1	0	0	0	1	0	1	3	2	4	3	3	2	2	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:31659444C>T	ENST00000395952.3	-	9	917	c.755G>A	c.(754-756)cGg>cAg	p.R252Q	ABHD16A_ENST00000375842.4_Missense_Mutation_p.R33Q|XXbac-BPG32J3.20_ENST00000461287.1_3'UTR|ABHD16A_ENST00000471644.1_5'Flank|ABHD16A_ENST00000440843.2_Missense_Mutation_p.R219Q	NM_021160.2	NP_066983.1	O95870	ABHGA_HUMAN	abhydrolase domain containing 16A	252						integral component of membrane (GO:0016021)	hydrolase activity (GO:0016787)			endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)	10						CAGCTTTGCCCGGCGCCCATT	0.627																																						ENST00000375842.4																			0				endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)	10						c.(97-99)cGg>cAg		abhydrolase domain containing 16A							52	49	50					6																	31659444		1510	2709	4219	SO:0001583	missense	7920					integral to membrane	hydrolase activity|protein binding	g.chr6:31659444C>T	AF129756	CCDS4713.1, CCDS54988.1	6p21.3	2013-01-17	2010-12-09	2010-12-09	ENSG00000204427	ENSG00000204427		"Abhydrolase domain containing"	13921	protein-coding gene	gene with protein product		142620	"HLA-B associated transcript 5"	BAT5		2911734, 2813433	Standard	NM_021160		Approved	NG26, D6S82E	uc003nvy.2	O95870	OTTHUMG00000031177	ENST00000395952.3:c.755G>A	6.37:g.31659444C>T	ENSP00000379282:p.Arg252Gln					ABHD16A_ENST00000440843.2_Missense_Mutation_p.R219Q|XXbac-BPG32J3.20_ENST00000461287.1_3'UTR|ABHD16A_ENST00000395952.3_Missense_Mutation_p.R252Q	p.R33Q			O95870	ABHGA_HUMAN			9	1084	-			252					A2BEY3|B7Z4R6|Q5SRR1|Q5SRR2|Q8WYH0|Q9NW33	Missense_Mutation	SNP	ENST00000395952.3	37	c.98G>A	CCDS4713.1	.	.	.	.	.	.	.	.	.	.	C	36	5.975052	0.97162	.	.	ENSG00000204427	ENST00000395952;ENST00000375842;ENST00000440843	.	.	.	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	T	0.77329	0.4114	M	0.83774	2.66	0.80722	D	1	D;D	0.89917	1.0;0.999	D;P	0.70716	0.97;0.806	T	0.78775	-0.2072	9	0.56958	D	0.05	-26.1488	17.3306	0.87262	0.0:1.0:0.0:0.0	.	219;252	B7Z4R6;O95870	.;ABHGA_HUMAN	Q	252;33;219	.	ENSP00000365002:R33Q	R	-	2	0	ABHD16A	31767423	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	6.913000	0.75759	2.763000	0.94921	0.650000	0.86243	CGG		0.627	ABHD16A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076342.4			10	13	0	0	0	1	0	10	13					T	31659444	C	T	31659444	3	4	435	1	0	0	0	0	1	0	0	0	1324	652	23	2	969	2	BAT5	6	31659444	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	21824	31659444	139455623	3090	24015											
C6orf26	401251	broad.mit.edu	37	chr6	31731263	31731263	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctggagctgctacagcatggCcaggcctggtttgaagacca	9	8	13	11	0	0	2	0	1	0	1	0	3	0	3	3	4	4	4	3	4	2	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:31731263C>T	ENST00000425424.1	+	2	245	c.186C>T	c.(184-186)ggC>ggT	p.G62G	MSH5-SAPCD1_ENST00000493662.2_3'UTR|VWA7_ENST00000467576.1_5'Flank|MSH5_ENST00000534153.4_3'UTR|SAPCD1_ENST00000415669.2_Silent_p.G62G|SAPCD1-AS1_ENST00000419679.1_RNA			Q5SSQ6	SAPC1_HUMAN	suppressor APC domain containing 1	62																	TACAGCATGGCCAGGCCTGGT	0.607																																						ENST00000415669.2																			0											c.(184-186)ggC>ggT		suppressor APC domain containing 1							84	83	83					6																	31731263		1509	2709	4218	SO:0001819	synonymous_variant	401251							g.chr6:31731263C>T		CCDS34411.1	6p21	2011-12-13	2011-12-13	2011-12-13	ENSG00000228727	ENSG00000228727			13938	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 26"	C6orf26			Standard	NM_001039651		Approved	NG23		Q5SSQ6	OTTHUMG00000031131	ENST00000425424.1:c.186C>T	6.37:g.31731263C>T						MSH5-SAPCD1_ENST00000493662.2_3'UTR|SAPCD1_ENST00000425424.1_Silent_p.G62G|MSH5_ENST00000534153.4_3'UTR	p.G62G	NM_001039651.1	NP_001034740.1	Q5SSQ6	G7D_HUMAN			2	245	+			62					A2ABF2|A2ABS9|Q9Y335	Silent	SNP	ENST00000425424.1	37	c.186C>T																																																																																					0.607	SAPCD1-203	KNOWN	basic	protein_coding	protein_coding		NM_001039651		5	55	0	0	0	1	0	5	55					T	31731263	C	T	31731263	2	4	435	1	0	0	0	0	0	0	0	1	2361	726	26	3		3	C6orf26	6	31731263	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	71819	31731263	139383804	3091	24016											
C6orf27	80737	broad.mit.edu	37	chr6	31734102	31734102	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgagggcccgagaagctggcGatgcggagactgagcgggac	9	4	19	9	4	0	4	0	2	0	2	0	8	0	5	1	4	3	1	1	4	1	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:31734102G>A	ENST00000375688.4	-	15	2444	c.2244C>T	c.(2242-2244)atC>atT	p.I748I	VWA7_ENST00000375686.3_Silent_p.I748I|VWA7_ENST00000467576.1_5'UTR|SAPCD1-AS1_ENST00000419679.1_RNA			Q9Y334	VWA7_HUMAN	von Willebrand factor A domain containing 7	748						extracellular region (GO:0005576)											AGAAGCTGGCGATGCGGAGAC	0.607																																						ENST00000375686.3																			0											c.(2242-2244)atC>atT		von Willebrand factor A domain containing 7							33	26	29					6																	31734102		1510	2709	4219	SO:0001819	synonymous_variant	80737					extracellular region		g.chr6:31734102G>A		CCDS4721.2	6p21	2011-12-13	2011-12-13	2011-12-13	ENSG00000204396	ENSG00000204396			13939	protein-coding gene	gene with protein product		609693	"chromosome 6 open reading frame 27"	C6orf27			Standard	NM_025258		Approved	G7c, NG37	uc011dog.2	Q9Y334	OTTHUMG00000031132	ENST00000375688.4:c.2244C>T	6.37:g.31734102G>A						VWA7_ENST00000467576.1_5'UTR|VWA7_ENST00000375688.4_Silent_p.I748I	p.I748I	NM_025258.2	NP_079534.2	Q9Y334	G7C_HUMAN			15	2481	-			748					A2BEX8|A6NHR6|B0V041|Q5SSR5|Q96QC8|Q9UMP9	Silent	SNP	ENST00000375688.4	37	c.2244C>T	CCDS4721.2																																																																																				0.607	VWA7-001	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076233.2	NM_025258		2	2	0	0	0	1	0	2	2					A	31734102	G	A	31734102	2	1	435	1	0	0	0	0	0	0	0	1	2362	1048	37	2		2	C6orf27	6	31734102	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	2839	31734102	139380965	3092	24017											
VARS	7407	broad.mit.edu	37	chr6	31759732	31759732	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgagggctgtaggagtcgggCatggggccactgacatctgg	7	7	18	9	2	1	1	0	1	1	0	2	3	1	2	1	6	0	3	1	6	1	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:31759732C>T	ENST00000375663.3	-	7	1328	c.888G>A	c.(886-888)atG>atA	p.M296I	VARS_ENST00000444930.2_Start_Codon_SNP_p.M1I	NM_006295.2	NP_006286.1	P26640	SYVC_HUMAN	valyl-tRNA synthetase	296					gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)|valyl-tRNA aminoacylation (GO:0006438)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|valine-tRNA ligase activity (GO:0004832)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	30					L-Valine(DB00161)	AGGAGTCGGGCATGGGGCCAC	0.627																																						ENST00000375663.3																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	30						c.(886-888)atG>atA		valyl-tRNA synthetase	L-Valine(DB00161)						25	20	22					6																	31759732		1509	2709	4218	SO:0001583	missense	7407				translational elongation|valyl-tRNA aminoacylation	cytosol	ATP binding|protein binding|valine-tRNA ligase activity	g.chr6:31759732C>T	BC012808	CCDS34412.1	6p21.3	2011-07-01		2005-07-05	ENSG00000204394	ENSG00000204394	6.1.1.9	"Aminoacyl tRNA synthetases / Class I"	12651	protein-coding gene	gene with protein product	"valine tRNA ligase 1, cytoplasmic"	192150	"valyl-tRNA synthetase 2"	VARS2		15779907	Standard	XM_005249362		Approved		uc003nxe.3	P26640	OTTHUMG00000031286	ENST00000375663.3:c.888G>A	6.37:g.31759732C>T	ENSP00000364815:p.Met296Ile					VARS_ENST00000444930.2_Start_Codon_SNP_p.M1I	p.M296I	NM_006295.2	NP_006286.1	P26640	SYVC_HUMAN			7	1328	-			296					B0V1N1|B4DZ61|Q5JQ90|Q96E77|Q9UQM2	Missense_Mutation	SNP	ENST00000375663.3	37	c.888G>A	CCDS34412.1	.	.	.	.	.	.	.	.	.	.	C	15.17	2.752504	0.49362	.	.	ENSG00000204394	ENST00000375663;ENST00000444930	T;T	0.22336	1.96;1.96	5.42	5.42	0.78866	Rossmann-like alpha/beta/alpha sandwich fold (1);	0.053482	0.85682	D	0.000000	T	0.13030	0.0316	L	0.48642	1.525	0.80722	D	1	B	0.18968	0.032	B	0.17433	0.018	T	0.02053	-1.1222	10	0.62326	D	0.03	-20.3522	16.7853	0.85573	0.0:1.0:0.0:0.0	.	296	P26640	SYVC_HUMAN	I	296;1	ENSP00000364815:M296I;ENSP00000398317:M1I	ENSP00000364815:M296I	M	-	3	0	VARS	31867711	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	3.175000	0.50855	2.574000	0.86865	0.461000	0.40582	ATG		0.627	VARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076619.2	NM_006295		4	7	0	0	0	1	0	4	7					T	31759732	C	T	31759732	3	4	435	1	0	0	0	0	1	0	0	0	17120	710	25	3	3002	3	VARS	6	31759732	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	25630	31759732	139355335	3093	24018											
SLC44A4	80736	broad.mit.edu	37	chr6	31838427	31838427	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaatacgaatccgctgccgCaggaagatgagcatcagcag	13	5	12	11	3	1	2	1	1	0	1	2	4	2	3	2	1	4	5	2	1	4	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:31838427C>T	ENST00000229729.6	-	11	1010	c.990G>A	c.(988-990)ctG>ctA	p.L330L	SLC44A4_ENST00000544672.1_Silent_p.L254L|SLC44A4_ENST00000375562.4_Silent_p.L288L	NM_025257.2	NP_079533.2	Q53GD3	CTL4_HUMAN	solute carrier family 44, member 4	330					acetylcholine biosynthetic process (GO:0008292)|acetylcholine secretion (GO:0061526)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|positive regulation of cell growth (GO:0030307)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(1)|urinary_tract(2)	35					Choline(DB00122)	TCCGCTGCCGCAGGAAGATGA	0.632																																						ENST00000544672.1																			0				NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(1)|urinary_tract(2)	35						c.(760-762)ctG>ctA		solute carrier family 44, member 4	Choline(DB00122)						38	26	30					6																	31838427		1508	2708	4216	SO:0001819	synonymous_variant	80736					integral to membrane|plasma membrane	choline transmembrane transporter activity	g.chr6:31838427C>T	AF134726	CCDS4724.2, CCDS54989.1, CCDS54990.1	6p21.3	2014-02-17	2005-09-06	2005-09-06	ENSG00000204385	ENSG00000204385		"Solute carriers"	13941	protein-coding gene	gene with protein product		606107	"chromosome 6 open reading frame 29"	C6orf29		10677542, 15715662, 24379411	Standard	NM_025257		Approved	NG22, CTL4, FLJ14491, TPPT	uc010jti.3	Q53GD3	OTTHUMG00000031133	ENST00000229729.6:c.990G>A	6.37:g.31838427C>T						SLC44A4_ENST00000229729.6_Silent_p.L330L|SLC44A4_ENST00000375562.4_Silent_p.L288L	p.L254L	NM_001178045.1	NP_001171516.1	Q53GD3	CTL4_HUMAN			11	1058	-			330					A2BED3|B0UXX8|B0UZY8|B4DU94|B4DWM2|E9PEK7|Q5JP84|Q5JQ93|Q658S8|Q6UX89|Q8TEW4|Q96C58|Q96K59|Q9Y332	Silent	SNP	ENST00000229729.6	37	c.762G>A	CCDS4724.2																																																																																				0.632	SLC44A4-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076234.3			8	3	0	0	0	1	0	8	3					T	31838427	C	T	31838427	2	4	435	1	0	0	0	0	0	0	0	1	14638	697	25	3		3	SLC44A4	6	31838427	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	78695	31838427	139276640	3094	24019											
EHMT2	10919	broad.mit.edu	37	chr6	31850722	31850722	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtttctccagcatgagcacGcctggttacactcgaaaatc	11	10	8	12	2	1	1	0	1	1	0	4	2	1	1	2	1	3	4	2	1	3	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:31850722G>A	ENST00000375537.4	-	24	3065	c.3059C>T	c.(3058-3060)gCg>gTg	p.A1020V	EHMT2_ENST00000395728.3_Missense_Mutation_p.A1077V|EHMT2_ENST00000375530.4_Missense_Mutation_p.A986V|EHMT2_ENST00000480912.1_5'UTR|EHMT2_ENST00000375528.4_Missense_Mutation_p.A1043V|EHMT2-AS1_ENST00000434689.1_RNA	NM_006709.3	NP_006700.3	Q96KQ7	EHMT2_HUMAN	euchromatic histone-lysine N-methyltransferase 2	1020	Pre-SET. {ECO:0000255|PROSITE- ProRule:PRU00157}.				DNA methylation (GO:0006306)|DNA methylation on cytosine within a CG sequence (GO:0010424)|fertilization (GO:0009566)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|organ growth (GO:0035265)|peptidyl-lysine dimethylation (GO:0018027)|regulation of DNA replication (GO:0006275)|spermatid development (GO:0007286)|synaptonemal complex assembly (GO:0007130)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|histone methyltransferase activity (H3-K27 specific) (GO:0046976)|histone methyltransferase activity (H3-K9 specific) (GO:0046974)|histone-lysine N-methyltransferase activity (GO:0018024)|p53 binding (GO:0002039)|protein-lysine N-methyltransferase activity (GO:0016279)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)	21						GCATGAGCACGCCTGGTTACA	0.562																																						ENST00000395728.3																			0				central_nervous_system(1)|cervix(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)	21						c.(3229-3231)gCg>gTg		euchromatic histone-lysine N-methyltransferase 2							75	74	74					6																	31850722		1511	2709	4220	SO:0001583	missense	10919				DNA methylation|peptidyl-lysine dimethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding	g.chr6:31850722G>A	AF134726	CCDS4725.1, CCDS4726.1, CCDS75425.1	6p21.3	2013-01-10	2004-03-22	2005-06-09	ENSG00000204371	ENSG00000204371	2.1.1.43	"Chromatin-modifying enzymes / K-methyltransferases", "Ankyrin repeat domain containing"	14129	protein-coding gene	gene with protein product		604599	"chromosome 6 open reading frame 30", "HLA-B associated transcript 8"	C6orf30, BAT8		8457211, 11316813	Standard	XM_005274833		Approved	G9A, Em:AF134726.3, NG36/G9a, KMT1C	uc003nxz.1	Q96KQ7	OTTHUMG00000031180	ENST00000375537.4:c.3059C>T	6.37:g.31850722G>A	ENSP00000364687:p.Ala1020Val					EHMT2_ENST00000375528.4_Missense_Mutation_p.A1043V|EHMT2_ENST00000375530.4_Missense_Mutation_p.A986V|EHMT2_ENST00000375537.4_Missense_Mutation_p.A1020V|EHMT2_ENST00000480912.1_5'UTR	p.A1077V			Q96KQ7	EHMT2_HUMAN			23	3229	-			1020			Interaction with histone H3 (By similarity).|SET.		B0UZY2|Q14349|Q5JP83|Q5JQ92|Q5JQA1|Q5JQG3|Q6PK06|Q96MH5|Q96QD0|Q9UQL8|Q9Y331	Missense_Mutation	SNP	ENST00000375537.4	37	c.3230C>T	CCDS4725.1	.	.	.	.	.	.	.	.	.	.	G	16.84	3.233008	0.58777	.	.	ENSG00000204371	ENST00000395728;ENST00000375528;ENST00000375530;ENST00000375537;ENST00000442298	T;T;T;T	0.76839	-1.05;-1.05;-1.05;-1.05	4.24	2.47	0.30058	Pre-SET zinc-binding sub-group (1);Pre-SET domain (2);	0.000000	0.85682	D	0.000000	T	0.78470	0.4288	M	0.66439	2.03	0.46609	D	0.999126	D;D;D;D	0.89917	0.999;1.0;1.0;1.0	P;D;D;D	0.72075	0.728;0.918;0.976;0.974	T	0.76743	-0.2847	10	0.40728	T	0.16	.	9.1856	0.37168	0.1818:0.0:0.8182:0.0	.	1043;986;1020;841	A2ABF8;Q96KQ7-2;Q96KQ7;Q59FM7	.;.;EHMT2_HUMAN;.	V	1077;1043;986;1020;841	ENSP00000379078:A1077V;ENSP00000364678:A1043V;ENSP00000364680:A986V;ENSP00000364687:A1020V	ENSP00000364678:A1043V	A	-	2	0	EHMT2	31958701	1.000000	0.71417	0.499000	0.27577	0.453000	0.32348	9.386000	0.97228	0.451000	0.26802	-0.258000	0.10820	GCG		0.562	EHMT2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000076355.5	NM_006709		11	29	0	0	0	1	0	11	29					A	31850722	G	A	31850722	3	1	435	1	0	0	0	0	1	0	0	0	4984	1087	38	1	593	1	EHMT2	6	31850722	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	12295	31850722	139264345	3095	24020											
C2	717	broad.mit.edu	37	chr6	31910873	31910873	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	accaggtctttgaacatatgCtgggtgagtgagctttgccc	8	12	12	9	0	1	3	0	3	1	0	1	3	1	3	2	2	4	2	2	2	2	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:31910873C>T	ENST00000299367.5	+	10	1633	c.1357C>T	c.(1357-1359)Ctg>Ttg	p.L453L	CFB_ENST00000425368.2_5'Flank|CFB_ENST00000477310.1_Intron|CFB_ENST00000456570.1_Silent_p.L300L|CFB_ENST00000556679.1_Silent_p.L300L|C2_ENST00000442278.2_Silent_p.L321L|C2_ENST00000469372.1_Silent_p.L207L|C2_ENST00000452323.2_Silent_p.L239L	NM_000063.4	NP_000054.2	P06681	CO2_HUMAN	complement component 2	453					complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)|positive regulation of apoptotic cell clearance (GO:2000427)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(1)|skin(2)|urinary_tract(2)	27		Ovarian(999;0.00965)		LUAD - Lung adenocarcinoma(999;0.247)		TGAACATATGCTGGGTGAGTG	0.572																																						ENST00000456570.1																			0				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|urinary_tract(1)	21						c.(898-900)Ctg>Ttg		complement factor B							240	255	250					6																	31910873		1511	2708	4219	SO:0001819	synonymous_variant	629				complement activation, alternative pathway|proteolysis	extracellular region|plasma membrane	complement binding|serine-type endopeptidase activity	g.chr6:31910873C>T		CCDS4728.1, CCDS54991.1, CCDS56416.1, CCDS75427.1, CCDS75428.1	6p21.3	2014-09-17			ENSG00000166278	ENSG00000166278		"Complement system"	1248	protein-coding gene	gene with protein product		613927					Standard	NM_001145903		Approved		uc011hbs.1	P06681	OTTHUMG00000031190	ENST00000299367.5:c.1357C>T	6.37:g.31910873C>T						C2_ENST00000452323.2_Silent_p.L239L|CFB_ENST00000477310.1_Intron|C2_ENST00000299367.5_Silent_p.L453L|C2_ENST00000469372.1_Silent_p.L207L|C2_ENST00000442278.2_Silent_p.L321L|CFB_ENST00000556679.1_Silent_p.L300L	p.L300L			P00751	CFAB_HUMAN			7	953	+			469	V -> L (in Ref. 10; AAA36225).		VWFA.		B4DPF3|B4DV20|E9PFN7|O19694|Q13904	Silent	SNP	ENST00000299367.5	37	c.898C>T	CCDS4728.1																																																																																				0.572	C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076379.9			27	136	0	0	0	1	0	27	136					T	31910873	C	T	31910873	2	4	435	1	0	0	0	0	0	0	0	1	2074	796	28	3		3	C2	6	31910873	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	60151	31910873	139204194	3096	24021											
CFB	629	broad.mit.edu	37	chr6	31917883	31917883	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gggaacacaggaagggtaccGattaccacaagcaaccatgg	15	4	12	10	1	0	0	0	0	0	0	0	3	0	2	3	4	5	2	3	4	6	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:31917883G>A	ENST00000425368.2	+	11	1978	c.1465G>A	c.(1465-1467)Gat>Aat	p.D489N	CFB_ENST00000477310.1_Missense_Mutation_p.D840N|CFB_ENST00000456570.1_Missense_Mutation_p.D991N|CFB_ENST00000556679.1_Missense_Mutation_p.D991N	NM_001710.5	NP_001701.2	P00751	CFAB_HUMAN	complement factor B	489	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	complement binding (GO:0001848)|serine-type endopeptidase activity (GO:0004252)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|urinary_tract(1)	21						GAAGGGTACCGATTACCACAA	0.502																																						ENST00000456570.1																			0				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|urinary_tract(1)	21						c.(2971-2973)Gat>Aat		complement factor B							124	123	123					6																	31917883		1511	2708	4219	SO:0001583	missense	629				complement activation, alternative pathway|proteolysis	extracellular region|plasma membrane	complement binding|serine-type endopeptidase activity	g.chr6:31917883G>A	L15702	CCDS4729.1	6p21.33	2014-09-17	2006-02-10	2006-02-10	ENSG00000243649	ENSG00000243649	3.4.21.47	"Complement system"	1037	protein-coding gene	gene with protein product		138470	"B-factor, properdin"	BFD, BF			Standard	NM_001710		Approved	H2-Bf	uc011dor.2	P00751	OTTHUMG00000031198	ENST00000425368.2:c.1465G>A	6.37:g.31917883G>A	ENSP00000416561:p.Asp489Asn					CFB_ENST00000425368.2_Missense_Mutation_p.D489N|CFB_ENST00000477310.1_Missense_Mutation_p.D840N|CFB_ENST00000556679.1_Missense_Mutation_p.D991N	p.D991N			P00751	CFAB_HUMAN			23	3026	+			489					B0QZQ6|O15006|Q29944|Q53F89|Q5JP67|Q5ST50|Q96HX6|Q9BTF5|Q9BX92	Missense_Mutation	SNP	ENST00000425368.2	37	c.2971G>A	CCDS4729.1	.	.	.	.	.	.	.	.	.	.	G	13.97	2.395514	0.42512	.	.	ENSG00000243649;ENSG00000243649;ENSG00000244255;ENSG00000244255	ENST00000556679;ENST00000425368;ENST00000456570;ENST00000477310	D;D;D;D	0.88896	-2.44;-2.44;-2.44;-2.44	5.48	3.48	0.39840	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.657438	0.14076	N	0.343085	T	0.75354	0.3838	N	0.20881	0.62	0.09310	N	1	P;B;P	0.51351	0.884;0.433;0.944	P;B;B	0.45610	0.487;0.156;0.336	T	0.67719	-0.5598	10	0.48119	T	0.1	-14.3988	11.7153	0.51650	0.0:0.4243:0.5757:0.0	.	991;489;489	B4E1Z4;P00751;P00751-2	.;CFAB_HUMAN;.	N	991;489;991;840	ENSP00000451848:D991N;ENSP00000416561:D489N;ENSP00000410815:D991N;ENSP00000418996:D840N	ENSP00000416561:D489N	D	+	1	0	CFB;XXbac-BPG116M5.17	32025862	0.000000	0.05858	0.008000	0.14137	0.861000	0.49209	0.107000	0.15375	1.391000	0.46566	0.563000	0.77884	GAT		0.502	CFB-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000076395.3	NM_001710		29	42	0	0	0	1	0	29	42					A	31917883	G	A	31917883	3	1	435	1	0	0	0	0	1	0	0	0	3278	1058	37	2	1507	2	CFB	6	31917883	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	7010	31917883	139197184	3097	24022											
CFB	629	broad.mit.edu	37	chr6	31917903	31917903	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gattaccacaagcaaccatgGcaggccaagatctcagtcat	14	7	8	12	0	2	1	2	0	1	1	3	2	2	1	3	2	3	2	3	2	4	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:31917903G>A	ENST00000425368.2	+	11	1998	c.1485G>A	c.(1483-1485)tgG>tgA	p.W495*	CFB_ENST00000477310.1_Nonsense_Mutation_p.W846*|CFB_ENST00000456570.1_Nonsense_Mutation_p.W997*|CFB_ENST00000556679.1_Nonsense_Mutation_p.W997*	NM_001710.5	NP_001701.2	P00751	CFAB_HUMAN	complement factor B	495	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	complement binding (GO:0001848)|serine-type endopeptidase activity (GO:0004252)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|urinary_tract(1)	21						AGCAACCATGGCAGGCCAAGA	0.512																																						ENST00000456570.1																			0				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|urinary_tract(1)	21						c.(2989-2991)tgG>tgA		complement factor B							115	116	116					6																	31917903		1510	2709	4219	SO:0001587	stop_gained	629				complement activation, alternative pathway|proteolysis	extracellular region|plasma membrane	complement binding|serine-type endopeptidase activity	g.chr6:31917903G>A	L15702	CCDS4729.1	6p21.33	2014-09-17	2006-02-10	2006-02-10	ENSG00000243649	ENSG00000243649	3.4.21.47	"Complement system"	1037	protein-coding gene	gene with protein product		138470	"B-factor, properdin"	BFD, BF			Standard	NM_001710		Approved	H2-Bf	uc011dor.2	P00751	OTTHUMG00000031198	ENST00000425368.2:c.1485G>A	6.37:g.31917903G>A	ENSP00000416561:p.Trp495*					CFB_ENST00000425368.2_Nonsense_Mutation_p.W495*|CFB_ENST00000477310.1_Nonsense_Mutation_p.W846*|CFB_ENST00000556679.1_Nonsense_Mutation_p.W997*	p.W997*			P00751	CFAB_HUMAN			23	3046	+			495					B0QZQ6|O15006|Q29944|Q53F89|Q5JP67|Q5ST50|Q96HX6|Q9BTF5|Q9BX92	Nonsense_Mutation	SNP	ENST00000425368.2	37	c.2991G>A	CCDS4729.1	.	.	.	.	.	.	.	.	.	.	G	42	9.388638	0.99156	.	.	ENSG00000243649;ENSG00000243649;ENSG00000244255;ENSG00000244255	ENST00000556679;ENST00000425368;ENST00000456570;ENST00000477310	.	.	.	5.48	5.48	0.80851	.	0.000000	0.49305	D	0.000151	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-19.9759	15.1913	0.73047	0.0:0.0:1.0:0.0	.	.	.	.	X	997;495;997;846	.	ENSP00000416561:W495X	W	+	3	0	CFB;XXbac-BPG116M5.17	32025882	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.689000	0.61723	2.737000	0.93849	0.563000	0.77884	TGG		0.512	CFB-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000076395.3	NM_001710		30	39	0	0	0	1	0	30	39					A	31917903	G	A	31917903	4	1	435	1	0	0	0	0	0	1	0	0	3278	1212	42	3	1527	3	CFB	6	31917903	Nonsense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	20	31917903	139197164	3098	24023											
RDBP	7936	broad.mit.edu	37	chr6	31926208	31926208	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ctcttcctcgctcagtccggGgggtatcaccaacatggtgg	6	10	12	13	2	3	0	2	0	1	0	6	0	5	0	3	5	1	2	3	5	2	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:31926208G>A	ENST00000375429.3	-	2	242	c.16C>T	c.(16-18)Ccc>Tcc	p.P6S	NELFE_ENST00000375425.5_Missense_Mutation_p.P13S|SKIV2L_ENST00000544581.1_5'Flank|SKIV2L_ENST00000375394.2_5'Flank|MIR1236_ENST00000408340.1_RNA|NELFE_ENST00000444811.2_Missense_Mutation_p.P6S	NM_002904.5	NP_002895.3	P18615	NELFE_HUMAN	negative elongation factor complex member E	6					gene expression (GO:0010467)|negative regulation of transcription elongation from RNA polymerase II promoter (GO:0034244)|positive regulation of viral transcription (GO:0050434)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	NELF complex (GO:0032021)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)										CTCAGTCCGGGGGGTATCACC	0.552																																						ENST00000375429.3																			0											c.(16-18)Ccc>Tcc		negative elongation factor complex member E							154	145	148					6																	31926208		1511	2709	4220	SO:0001583	missense	7936							g.chr6:31926208G>A	M33230	CCDS4730.1	6p21.3	2013-02-12	2013-01-31	2013-01-31	ENSG00000204356	ENSG00000204356		"RNA binding motif (RRM) containing"	13974	protein-coding gene	gene with protein product		154040	"RD RNA-binding protein", "RD RNA binding protein"	RDBP			Standard	XM_006715205		Approved	RD, D6S45, NELF-E, RDP	uc003nyk.3	P18615	OTTHUMG00000031046	ENST00000375429.3:c.16C>T	6.37:g.31926208G>A	ENSP00000364578:p.Pro6Ser					NELFE_ENST00000444811.2_Missense_Mutation_p.P6S|NELFE_ENST00000375425.5_Missense_Mutation_p.P13S	p.P6S	NM_002904.5	NP_002895.3					2	242	-								A2BE08|B4DUN1|B4DYX9|Q5JP74|Q5JP75|Q96F56|Q9NPK2	Missense_Mutation	SNP	ENST00000375429.3	37	c.16C>T	CCDS4730.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.952974	0.73902	.	.	ENSG00000204356	ENST00000375429;ENST00000375425;ENST00000444811;ENST00000441998;ENST00000454913;ENST00000436289;ENST00000426722	T;T;T;T	0.37058	1.24;1.23;1.22;1.22	5.81	4.94	0.65067	.	0.221828	0.36303	N	0.002678	T	0.03651	0.0104	N	0.01168	-0.975	0.40737	D	0.982797	B;P;B	0.43024	0.057;0.798;0.147	B;B;B	0.39465	0.014;0.3;0.024	T	0.23261	-1.0193	10	0.02654	T	1	-15.4186	8.6195	0.33853	0.0773:0.0:0.7712:0.1515	.	6;6;6	B4DUN1;A2ABK1;P18615	.;.;NELFE_HUMAN	S	6;13;6;6;6;6;6	ENSP00000364578:P6S;ENSP00000364574:P13S;ENSP00000388400:P6S;ENSP00000397914:P6S	ENSP00000364574:P13S	P	-	1	0	RDBP	32034187	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.176000	0.58269	1.455000	0.47813	0.650000	0.86243	CCC		0.552	NELFE-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000076047.4			18	59	0	0	0	1	0	18	59					A	31926208	G	A	31926208	3	1	435	1	0	0	0	0	1	0	0	0	13188	1232	43	3	1166	3	RDBP	6	31926208	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	8305	31926208	139188859	3099	24024											
SKIV2L	6499	broad.mit.edu	37	chr6	31928035	31928035	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggatccctggtctcttttggCtgtcctgggagccccagtcc	3	12	12	14	0	1	0	0	0	1	0	5	2	4	2	5	4	1	1	5	4	0	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:31928035C>T	ENST00000375394.2	+	4	388	c.275C>T	c.(274-276)gCt>gTt	p.A92V	NELFE_ENST00000375425.5_5'Flank|SKIV2L_ENST00000544581.1_Intron|NELFE_ENST00000444811.2_5'Flank|SKIV2L_ENST00000488648.1_3'UTR|NELFE_ENST00000375429.3_5'Flank	NM_006929.4	NP_008860.4	Q15477	SKIV2_HUMAN	superkiller viralicidic activity 2-like (S. cerevisiae)	92					ATP catabolic process (GO:0006200)	nucleus (GO:0005634)|Ski complex (GO:0055087)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|RNA binding (GO:0003723)			breast(1)|central_nervous_system(1)|large_intestine(1)|ovary(1)	4						TCTCTTTTGGCTGTCCTGGGA	0.522																																						ENST00000375394.2																			0				breast(1)|central_nervous_system(1)|large_intestine(1)|ovary(1)	4						c.(274-276)gCt>gTt		superkiller viralicidic activity 2-like (S. cerevisiae)							144	177	165					6																	31928035		1511	2709	4220	SO:0001583	missense	6499					nucleus	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding	g.chr6:31928035C>T		CCDS4731.1	6p21	2010-02-17	2001-11-28		ENSG00000204351	ENSG00000204351			10898	protein-coding gene	gene with protein product		600478	"superkiller viralicidic activity 2 (S. cerevisiae homolog)-like"	SKIV2		7759100, 9799600	Standard	XM_006715168		Approved	HLP, DDX13, SKI2W, 170A	uc003nyn.1	Q15477	OTTHUMG00000031146	ENST00000375394.2:c.275C>T	6.37:g.31928035C>T	ENSP00000364543:p.Ala92Val					SKIV2L_ENST00000488648.1_3'UTR|SKIV2L_ENST00000544581.1_Intron	p.A92V	NM_006929.4	NP_008860.4	Q15477	SKIV2_HUMAN			4	388	+			92					O15005|Q12902|Q15476|Q5ST66	Missense_Mutation	SNP	ENST00000375394.2	37	c.275C>T	CCDS4731.1	.	.	.	.	.	.	.	.	.	.	C	3.239	-0.155831	0.06544	.	.	ENSG00000204351	ENST00000375394	T	0.44482	0.92	4.61	0.577	0.17385	.	0.896569	0.09693	N	0.768046	T	0.08358	0.0208	N	0.22421	0.69	0.09310	N	1	B	0.09022	0.002	B	0.12156	0.007	T	0.31138	-0.9954	10	0.33940	T	0.23	-0.9941	0.2686	0.00228	0.2781:0.2997:0.1509:0.2713	.	92	Q15477	SKIV2_HUMAN	V	92	ENSP00000364543:A92V	ENSP00000364543:A92V	A	+	2	0	SKIV2L	32036014	0.000000	0.05858	0.011000	0.14972	0.123000	0.20343	-0.038000	0.12144	0.200000	0.20447	-0.140000	0.14226	GCT		0.522	SKIV2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076264.3			48	57	0	0	0	1	0	48	57					T	31928035	C	T	31928035	3	4	435	1	0	0	0	0	1	0	0	0	14359	797	28	3	289	3	SKIV2L	6	31928035	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	1827	31928035	139187032	3100	24025											
TNXB	7148	broad.mit.edu	37	chr6	32011641	32011641	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agtttctgggtccgggcctgGccatccacctgcacactctg	5	10	11	15	1	2	0	0	0	2	0	4	0	4	0	5	3	1	2	5	3	0	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:32011641G>A	ENST00000375244.3	-	35	11616	c.11415C>T	c.(11413-11415)ggC>ggT	p.G3805G	TNXB_ENST00000375247.2_Silent_p.G3803G|TNXB_ENST00000451343.1_Silent_p.G234G			P22105	TENX_HUMAN	tenascin XB	3850	Fibronectin type-III 30. {ECO:0000255|PROSITE-ProRule:PRU00316}.				actin cytoskeleton organization (GO:0030036)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|collagen fibril organization (GO:0030199)|collagen metabolic process (GO:0032963)|elastic fiber assembly (GO:0048251)|extracellular fibril organization (GO:0043206)|fatty acid metabolic process (GO:0006631)|regulation of JUN kinase activity (GO:0043506)|single organismal cell-cell adhesion (GO:0016337)|triglyceride metabolic process (GO:0006641)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						TCCGGGCCTGGCCATCCACCT	0.642																																						ENST00000375244.3																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						c.(11413-11415)ggC>ggT		tenascin XB							70	86	80					6																	32011641		1511	2709	4220	SO:0001819	synonymous_variant	7148				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding	g.chr6:32011641G>A	X71923	CCDS4736.1	6p21.3	2013-02-11			ENSG00000168477	ENSG00000168477		"Fibrinogen C domain containing", "Fibronectin type III domain containing"	11976	protein-coding gene	gene with protein product		600985		TNXB1, TNXB2		8530023	Standard	NM_019105		Approved	TNXBS, XBS, XB	uc021yvf.2	P22105	OTTHUMG00000031088	ENST00000375244.3:c.11415C>T	6.37:g.32011641G>A						TNXB_ENST00000451343.1_Silent_p.G234G|TNXB_ENST00000375247.2_Silent_p.G3803G	p.G3805G			P22105	TENX_HUMAN			35	11616	-			3850			Fibronectin type-III 30.		P78530|P78531|Q08424|Q08AM0|Q08AM1|Q59GU7|Q5SQD3|Q5ST74|Q7L8Q4|Q8N4R1|Q9NPK9|Q9UC10|Q9UC11|Q9UC12|Q9UC13|Q9UMG7	Silent	SNP	ENST00000375244.3	37	c.11415C>T																																																																																					0.642	TNXB-001	PUTATIVE	not_organism_supported|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000268927.2	NM_019105		18	31	0	0	0	1	0	18	31					A	32011641	G	A	32011641	2	1	435	1	0	0	0	0	0	0	0	1	16343	1190	42	3		3	TNXB	6	32011641	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	83606	32011641	139103426	3101	24026											
TNXB	7148	broad.mit.edu	37	chr6	32015602	32015602	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcctactgggctccaggccCtggactgtgacctcccgctg	4	10	11	16	1	0	1	0	1	0	0	3	2	3	2	5	3	1	2	5	3	1	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:32015602C>A	ENST00000375244.3	-	30	10434	c.10233G>T	c.(10231-10233)caG>caT	p.Q3411H	TNXB_ENST00000375247.2_Missense_Mutation_p.Q3409H|TNXB_ENST00000451343.1_5'Flank			P22105	TENX_HUMAN	tenascin XB	3456	Fibronectin type-III 26. {ECO:0000255|PROSITE-ProRule:PRU00316}.				actin cytoskeleton organization (GO:0030036)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|collagen fibril organization (GO:0030199)|collagen metabolic process (GO:0032963)|elastic fiber assembly (GO:0048251)|extracellular fibril organization (GO:0043206)|fatty acid metabolic process (GO:0006631)|regulation of JUN kinase activity (GO:0043506)|single organismal cell-cell adhesion (GO:0016337)|triglyceride metabolic process (GO:0006641)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						GCTCCAGGCCCTGGACTGTGA	0.602																																						ENST00000375244.3																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						c.(10231-10233)caG>caT		tenascin XB							28	35	32					6																	32015602		1387	2618	4005	SO:0001583	missense	7148				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding	g.chr6:32015602C>A	X71923	CCDS4736.1	6p21.3	2013-02-11			ENSG00000168477	ENSG00000168477		"Fibrinogen C domain containing", "Fibronectin type III domain containing"	11976	protein-coding gene	gene with protein product		600985		TNXB1, TNXB2		8530023	Standard	NM_019105		Approved	TNXBS, XBS, XB	uc021yvf.2	P22105	OTTHUMG00000031088	ENST00000375244.3:c.10233G>T	6.37:g.32015602C>A	ENSP00000364393:p.Gln3411His					TNXB_ENST00000375247.2_Missense_Mutation_p.Q3409H	p.Q3411H			P22105	TENX_HUMAN			30	10434	-			3456			Fibronectin type-III 26.		P78530|P78531|Q08424|Q08AM0|Q08AM1|Q59GU7|Q5SQD3|Q5ST74|Q7L8Q4|Q8N4R1|Q9NPK9|Q9UC10|Q9UC11|Q9UC12|Q9UC13|Q9UMG7	Missense_Mutation	SNP	ENST00000375244.3	37	c.10233G>T		.	.	.	.	.	.	.	.	.	.	C	1.204	-0.631538	0.03584	.	.	ENSG00000168477	ENST00000375244;ENST00000375247	T;T	0.57595	0.39;0.39	4.76	-9.51	0.00581	.	1.249250	0.05672	N	0.588890	T	0.08044	0.0201	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.04053	-1.0981	10	0.42905	T	0.14	.	0.509	0.00592	0.2409:0.2584:0.1538:0.3468	.	3409	P22105-3	.	H	3411;3409	ENSP00000364393:Q3411H;ENSP00000364396:Q3409H	ENSP00000364393:Q3411H	Q	-	3	2	TNXB	32123580	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-4.728000	0.00193	-3.450000	0.00161	-2.582000	0.00168	CAG		0.602	TNXB-001	PUTATIVE	not_organism_supported|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000268927.2	NM_019105		10	14	1	0	7.48243e-07	1	7.8103e-07	10	14					A	32015602	C	A	32015602	3	1	435	1	0	0	0	0	1	0	0	0	16343	680	24	5	4546	5	TNXB	6	32015602	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	3961	32015602	139099465	3102	24027											
TNXB	7148	broad.mit.edu	37	chr6	32029310	32029310	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cccccaacacgcaccacctgGggccgcccgtccctgtcctt	5	6	8	22	3	0	0	0	0	0	0	2	0	2	0	8	2	1	1	8	2	1	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:32029310G>A	ENST00000375244.3	-	21	7557	c.7356C>T	c.(7354-7356)ccC>ccT	p.P2452P	TNXB_ENST00000375247.2_Silent_p.P2452P			P22105	TENX_HUMAN	tenascin XB	2512	Fibronectin type-III 16. {ECO:0000255|PROSITE-ProRule:PRU00316}.				actin cytoskeleton organization (GO:0030036)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|collagen fibril organization (GO:0030199)|collagen metabolic process (GO:0032963)|elastic fiber assembly (GO:0048251)|extracellular fibril organization (GO:0043206)|fatty acid metabolic process (GO:0006631)|regulation of JUN kinase activity (GO:0043506)|single organismal cell-cell adhesion (GO:0016337)|triglyceride metabolic process (GO:0006641)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						GCACCACCTGGGGCCGCCCGT	0.672																																						ENST00000375244.3																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						c.(7354-7356)ccC>ccT		tenascin XB							55	64	61					6																	32029310		1209	2505	3714	SO:0001819	synonymous_variant	7148				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding	g.chr6:32029310G>A	X71923	CCDS4736.1	6p21.3	2013-02-11			ENSG00000168477	ENSG00000168477		"Fibrinogen C domain containing", "Fibronectin type III domain containing"	11976	protein-coding gene	gene with protein product		600985		TNXB1, TNXB2		8530023	Standard	NM_019105		Approved	TNXBS, XBS, XB	uc021yvf.2	P22105	OTTHUMG00000031088	ENST00000375244.3:c.7356C>T	6.37:g.32029310G>A						TNXB_ENST00000375247.2_Silent_p.P2452P	p.P2452P			P22105	TENX_HUMAN			21	7557	-			2512					P78530|P78531|Q08424|Q08AM0|Q08AM1|Q59GU7|Q5SQD3|Q5ST74|Q7L8Q4|Q8N4R1|Q9NPK9|Q9UC10|Q9UC11|Q9UC12|Q9UC13|Q9UMG7	Silent	SNP	ENST00000375244.3	37	c.7356C>T																																																																																					0.672	TNXB-001	PUTATIVE	not_organism_supported|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000268927.2	NM_019105		31	37	0	0	0	1	0	31	37					A	32029310	G	A	32029310	2	1	435	1	0	0	0	0	0	0	0	1	16343	1219	43	3		3	TNXB	6	32029310	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	13708	32029310	139085757	3103	24028											
TNXB	7148	broad.mit.edu	37	chr6	32029957	32029957	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tcaccccgatggcagacacgGggcccacacgctggccaccg	8	3	12	18	4	1	1	1	0	0	1	1	2	1	1	5	4	0	2	5	4	0	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:32029957G>A	ENST00000375244.3	-	20	7346	c.7145C>T	c.(7144-7146)cCc>cTc	p.P2382L	TNXB_ENST00000375247.2_Missense_Mutation_p.P2382L			P22105	TENX_HUMAN	tenascin XB	2444	Fibronectin type-III 16. {ECO:0000255|PROSITE-ProRule:PRU00316}.				actin cytoskeleton organization (GO:0030036)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|collagen fibril organization (GO:0030199)|collagen metabolic process (GO:0032963)|elastic fiber assembly (GO:0048251)|extracellular fibril organization (GO:0043206)|fatty acid metabolic process (GO:0006631)|regulation of JUN kinase activity (GO:0043506)|single organismal cell-cell adhesion (GO:0016337)|triglyceride metabolic process (GO:0006641)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						GGCAGACACGGGGCCCACACG	0.627																																						ENST00000375244.3																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						c.(7144-7146)cCc>cTc		tenascin XB							28	32	31					6																	32029957		1279	2531	3810	SO:0001583	missense	7148				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding	g.chr6:32029957G>A	X71923	CCDS4736.1	6p21.3	2013-02-11			ENSG00000168477	ENSG00000168477		"Fibrinogen C domain containing", "Fibronectin type III domain containing"	11976	protein-coding gene	gene with protein product		600985		TNXB1, TNXB2		8530023	Standard	NM_019105		Approved	TNXBS, XBS, XB	uc021yvf.2	P22105	OTTHUMG00000031088	ENST00000375244.3:c.7145C>T	6.37:g.32029957G>A	ENSP00000364393:p.Pro2382Leu					TNXB_ENST00000375247.2_Missense_Mutation_p.P2382L	p.P2382L			P22105	TENX_HUMAN			20	7346	-			2444			Fibronectin type-III 16.		P78530|P78531|Q08424|Q08AM0|Q08AM1|Q59GU7|Q5SQD3|Q5ST74|Q7L8Q4|Q8N4R1|Q9NPK9|Q9UC10|Q9UC11|Q9UC12|Q9UC13|Q9UMG7	Missense_Mutation	SNP	ENST00000375244.3	37	c.7145C>T		.	.	.	.	.	.	.	.	.	.	G	14.81	2.645232	0.47258	.	.	ENSG00000168477	ENST00000375244;ENST00000375247	T;T	0.05649	3.41;3.41	4.52	4.52	0.55395	.	0.106857	0.42420	D	0.000718	T	0.24084	0.0583	M	0.92317	3.295	0.40681	D	0.982303	D	0.89917	1.0	D	0.85130	0.997	T	0.17745	-1.0359	10	0.56958	D	0.05	.	14.1598	0.65438	0.0:0.0:1.0:0.0	.	2382	P22105-3	.	L	2382	ENSP00000364393:P2382L;ENSP00000364396:P2382L	ENSP00000364393:P2382L	P	-	2	0	TNXB	32137935	1.000000	0.71417	0.073000	0.20177	0.130000	0.20726	3.831000	0.55776	2.036000	0.60181	0.655000	0.94253	CCC		0.627	TNXB-001	PUTATIVE	not_organism_supported|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000268927.2	NM_019105		19	23	0	0	0	1	0	19	23					A	32029957	G	A	32029957	3	1	435	1	0	0	0	0	1	0	0	0	16343	1232	43	3	7668	3	TNXB	6	32029957	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	647	32029957	139085110	3104	24029											
TNXB	7148	broad.mit.edu	37	chr6	32056719	32056719	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctctggttgccggcactgacGtaggacaccacaaatcggtc	9	8	11	13	3	1	1	0	1	1	0	3	2	1	2	2	4	1	3	2	4	2	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:32056719G>A	ENST00000375244.3	-	6	2823	c.2622C>T	c.(2620-2622)taC>taT	p.Y874Y	TNXB_ENST00000375247.2_Silent_p.Y874Y			P22105	TENX_HUMAN	tenascin XB	826	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				actin cytoskeleton organization (GO:0030036)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|collagen fibril organization (GO:0030199)|collagen metabolic process (GO:0032963)|elastic fiber assembly (GO:0048251)|extracellular fibril organization (GO:0043206)|fatty acid metabolic process (GO:0006631)|regulation of JUN kinase activity (GO:0043506)|single organismal cell-cell adhesion (GO:0016337)|triglyceride metabolic process (GO:0006641)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						CGGCACTGACGTAGGACACCA	0.622																																						ENST00000375244.3																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						c.(2620-2622)taC>taT		tenascin XB							36	42	40					6																	32056719		2157	4254	6411	SO:0001819	synonymous_variant	7148				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding	g.chr6:32056719G>A	X71923	CCDS4736.1	6p21.3	2013-02-11			ENSG00000168477	ENSG00000168477		"Fibrinogen C domain containing", "Fibronectin type III domain containing"	11976	protein-coding gene	gene with protein product		600985		TNXB1, TNXB2		8530023	Standard	NM_019105		Approved	TNXBS, XBS, XB	uc021yvf.2	P22105	OTTHUMG00000031088	ENST00000375244.3:c.2622C>T	6.37:g.32056719G>A						TNXB_ENST00000375247.2_Silent_p.Y874Y	p.Y874Y			P22105	TENX_HUMAN			6	2823	-			826					P78530|P78531|Q08424|Q08AM0|Q08AM1|Q59GU7|Q5SQD3|Q5ST74|Q7L8Q4|Q8N4R1|Q9NPK9|Q9UC10|Q9UC11|Q9UC12|Q9UC13|Q9UMG7	Silent	SNP	ENST00000375244.3	37	c.2622C>T																																																																																					0.622	TNXB-001	PUTATIVE	not_organism_supported|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000268927.2	NM_019105		4	4	0	0	0	1	0	4	4					A	32056719	G	A	32056719	2	1	435	1	0	0	0	0	0	0	0	1	16343	1140	40	1		1	TNXB	6	32056719	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	26762	32056719	139058348	3105	24030											
TNXB	7148	broad.mit.edu	37	chr6	32065948	32065948	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caccaggagaaccaggctggAggttagagcatactgggctg	11	6	15	9	0	0	2	0	0	0	2	0	4	0	3	2	5	3	4	2	5	3	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:32065948A>T	ENST00000479795.1	-	2	168	c.28T>A	c.(28-30)Tcc>Acc	p.S10T	TNXB_ENST00000375247.2_Missense_Mutation_p.S10T|TNXB_ENST00000375244.3_Missense_Mutation_p.S10T			P22105	TENX_HUMAN	tenascin XB	10					actin cytoskeleton organization (GO:0030036)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|collagen fibril organization (GO:0030199)|collagen metabolic process (GO:0032963)|elastic fiber assembly (GO:0048251)|extracellular fibril organization (GO:0043206)|fatty acid metabolic process (GO:0006631)|regulation of JUN kinase activity (GO:0043506)|single organismal cell-cell adhesion (GO:0016337)|triglyceride metabolic process (GO:0006641)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						ACCAGGCTGGAGGTTAGAGCA	0.587																																						ENST00000375244.3																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						c.(28-30)Tcc>Acc		tenascin XB							21	23	23					6																	32065948		1957	4059	6016	SO:0001583	missense	7148				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding	g.chr6:32065948A>T	X71923	CCDS4736.1	6p21.3	2013-02-11			ENSG00000168477	ENSG00000168477		"Fibrinogen C domain containing", "Fibronectin type III domain containing"	11976	protein-coding gene	gene with protein product		600985		TNXB1, TNXB2		8530023	Standard	NM_019105		Approved	TNXBS, XBS, XB	uc021yvf.2	P22105	OTTHUMG00000031088	ENST00000479795.1:c.28T>A	6.37:g.32065948A>T	ENSP00000418248:p.Ser10Thr					TNXB_ENST00000479795.1_Missense_Mutation_p.S10T|TNXB_ENST00000375247.2_Missense_Mutation_p.S10T	p.S10T			P22105	TENX_HUMAN			2	229	-			10					P78530|P78531|Q08424|Q08AM0|Q08AM1|Q59GU7|Q5SQD3|Q5ST74|Q7L8Q4|Q8N4R1|Q9NPK9|Q9UC10|Q9UC11|Q9UC12|Q9UC13|Q9UMG7	Missense_Mutation	SNP	ENST00000479795.1	37	c.28T>A		.	.	.	.	.	.	.	.	.	.	A	11.36	1.616175	0.28801	.	.	ENSG00000168477	ENST00000375244;ENST00000375247;ENST00000479795	T;T;D	0.92699	0.61;0.44;-3.09	5.3	-2.33	0.06724	.	0.920575	0.09036	N	0.857951	T	0.75824	0.3902	L	0.51422	1.61	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.63537	-0.6615	10	0.87932	D	0	.	0.8594	0.01190	0.2762:0.3351:0.2248:0.1639	.	10	P22105-3	.	T	10	ENSP00000364393:S10T;ENSP00000364396:S10T;ENSP00000418248:S10T	ENSP00000364393:S10T	S	-	1	0	TNXB	32173926	0.004000	0.15560	0.000000	0.03702	0.504000	0.33889	-0.143000	0.10296	-0.300000	0.08895	0.454000	0.30748	TCC		0.587	TNXB-007	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000357059.1	NM_019105		7	16	0	0	0	1	0	7	16					T	32065948	A	T	32065948	3	4	435	1	0	0	0	0	1	0	0	0	16343	304	11	5	14857	5	TNXB	6	32065948	Missense_Mutation	SNP	A	TCGA-XK-AAIW-01A-11D-A41K-08	9229	32065948	139049119	3106	24031											
ATF6B	1388	broad.mit.edu	37	chr6	32087657	32087657	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcgggaacgatgctcttccTctcaggccgtggtagagagg	8	8	15	10	3	2	1	1	0	2	1	4	4	3	2	2	4	3	2	2	4	2	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:32087657T>G	ENST00000375203.3	-	9	942	c.910A>C	c.(910-912)Agg>Cgg	p.R304R	ATF6B_ENST00000375201.4_Silent_p.R301R	NM_001136153.1|NM_004381.4	NP_001129625.1|NP_004372.3	Q99941	ATF6B_HUMAN	activating transcription factor 6 beta	304					response to unfolded protein (GO:0006986)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|prostate(2)|skin(1)|urinary_tract(1)	22						ATGCTCTTCCTCTCAGGCCGT	0.597																																						ENST00000375201.4																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|prostate(2)|skin(1)|urinary_tract(1)	22						c.(901-903)Agg>Cgg		activating transcription factor 6 beta							95	79	85					6																	32087657		2203	4300	6503	SO:0001819	synonymous_variant	1388				response to unfolded protein|signal transduction	endoplasmic reticulum membrane|integral to membrane|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr6:32087657T>G		CCDS47408.1, CCDS4737.1	6p21.3	2013-01-10	2008-10-21	2008-10-21	ENSG00000213676	ENSG00000213676		"basic leucine zipper proteins"	2349	protein-coding gene	gene with protein product		600984	"cAMP responsive element binding protein-like 1"	CREBL1		11256944, 14973138	Standard	NM_004381		Approved	G13	uc003nzn.3	Q99941	OTTHUMG00000031296	ENST00000375203.3:c.910A>C	6.37:g.32087657T>G						ATF6B_ENST00000375203.3_Silent_p.R304R	p.R301R			Q99941	ATF6B_HUMAN			9	946	-			304					B0UYX6|Q13269|Q14343|Q14345|Q5SSW7|Q99635|Q99637|Q9H3V9|Q9H3W1|Q9NPL0	Silent	SNP	ENST00000375203.3	37	c.901A>C	CCDS4737.1																																																																																				0.597	ATF6B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000076638.2			9	19	0	0	0	1	0	9	19					G	32087657	T	G	32087657	2	3	435	1	0	0	0	0	0	0	0	1	1085	1550	54	5		5	ATF6B	6	32087657	Silent	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	21709	32087657	139027410	3107	24032											
NOTCH4	4855	broad.mit.edu	37	chr6	32169087	32169087	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	agtcagggacagcacccgggCcagggcaaacagctgctggt	10	4	15	12	1	1	0	1	0	0	0	1	1	1	1	2	4	4	4	2	4	1	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:32169087C>T	ENST00000375023.3	-	22	4084	c.3946G>A	c.(3946-3948)Gcc>Acc	p.A1316T		NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4	1316					cell differentiation (GO:0030154)|cell fate determination (GO:0001709)|embryo development (GO:0009790)|endothelial cell morphogenesis (GO:0001886)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|mammary gland development (GO:0030879)|morphogenesis of a branching structure (GO:0001763)|negative regulation of cell differentiation (GO:0045596)|negative regulation of endothelial cell differentiation (GO:0045602)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|patterning of blood vessels (GO:0001569)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|protein heterodimerization activity (GO:0046982)|receptor activity (GO:0004872)			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						AGCACCCGGGCCAGGGCAAAC	0.647																																						ENST00000375023.3																			0				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						c.(3946-3948)Gcc>Acc		notch 4							39	44	42					6																	32169087		1509	2709	4218	SO:0001583	missense	4855				cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity	g.chr6:32169087C>T		CCDS34420.1	6p21.3	2013-01-10	2010-06-24		ENSG00000204301	ENSG00000204301		"Ankyrin repeat domain containing"	7884	protein-coding gene	gene with protein product		164951	"Notch (Drosophila) homolog 4", "Notch homolog 4 (Drosophila)"	INT3		7835890	Standard	NM_004557		Approved		uc003obb.3	Q99466	OTTHUMG00000031044	ENST00000375023.3:c.3946G>A	6.37:g.32169087C>T	ENSP00000364163:p.Ala1316Thr						p.A1316T	NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN			22	4084	-			1316					B0V183|B0V1X5|O00306|Q5SSY7|Q99458|Q99940|Q9H3S8|Q9UII9|Q9UIJ0	Missense_Mutation	SNP	ENST00000375023.3	37	c.3946G>A	CCDS34420.1	.	.	.	.	.	.	.	.	.	.	C	15.92	2.974725	0.53720	.	.	ENSG00000204301	ENST00000375023	T	0.81330	-1.48	4.37	4.37	0.52481	.	0.396846	0.18239	N	0.147306	T	0.73001	0.3531	L	0.27053	0.805	0.80722	D	1	D	0.61697	0.99	P	0.57204	0.815	T	0.77161	-0.2689	10	0.72032	D	0.01	.	10.3775	0.44090	0.0:0.8008:0.1992:0.0	.	1316	Q99466	NOTC4_HUMAN	T	1316	ENSP00000364163:A1316T	ENSP00000364163:A1316T	A	-	1	0	NOTCH4	32277065	1.000000	0.71417	1.000000	0.80357	0.852000	0.48524	1.384000	0.34396	2.298000	0.77334	0.456000	0.33151	GCC		0.647	NOTCH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076045.2			19	15	0	0	0	1	0	19	15					T	32169087	C	T	32169087	3	4	435	1	0	0	0	0	1	0	0	0	10551	739	26	3	2101	3	NOTCH4	6	32169087	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	81430	32169087	138945980	3108	24033											
NOTCH4	4855	broad.mit.edu	37	chr6	32188977	32188977	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaagcactcgttgacatcacGttcacaggcatggccctcga	10	8	10	13	3	2	1	2	1	0	0	4	3	2	1	1	2	1	4	1	2	1	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:32188977G>A	ENST00000375023.3	-	4	715	c.577C>T	c.(577-579)Cgt>Tgt	p.R193C		NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4	193					cell differentiation (GO:0030154)|cell fate determination (GO:0001709)|embryo development (GO:0009790)|endothelial cell morphogenesis (GO:0001886)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|mammary gland development (GO:0030879)|morphogenesis of a branching structure (GO:0001763)|negative regulation of cell differentiation (GO:0045596)|negative regulation of endothelial cell differentiation (GO:0045602)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|patterning of blood vessels (GO:0001569)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|protein heterodimerization activity (GO:0046982)|receptor activity (GO:0004872)	p.R193C(1)		NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						TTGACATCACGTTCACAGGCA	0.617																																						ENST00000375023.3																			1	Substitution - Missense(1)	p.R193C(1)	large_intestine(1)	NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						c.(577-579)Cgt>Tgt		notch 4							73	67	69					6																	32188977		1510	2708	4218	SO:0001583	missense	4855				cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity	g.chr6:32188977G>A		CCDS34420.1	6p21.3	2013-01-10	2010-06-24		ENSG00000204301	ENSG00000204301		"Ankyrin repeat domain containing"	7884	protein-coding gene	gene with protein product		164951	"Notch (Drosophila) homolog 4", "Notch homolog 4 (Drosophila)"	INT3		7835890	Standard	NM_004557		Approved		uc003obb.3	Q99466	OTTHUMG00000031044	ENST00000375023.3:c.577C>T	6.37:g.32188977G>A	ENSP00000364163:p.Arg193Cys						p.R193C	NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN			4	715	-			193					B0V183|B0V1X5|O00306|Q5SSY7|Q99458|Q99940|Q9H3S8|Q9UII9|Q9UIJ0	Missense_Mutation	SNP	ENST00000375023.3	37	c.577C>T	CCDS34420.1	.	.	.	.	.	.	.	.	.	.	G	15.54	2.864237	0.51482	.	.	ENSG00000204301	ENST00000375023	T	0.09817	2.94	4.44	4.44	0.53790	.	0.526040	0.15762	N	0.245875	T	0.11196	0.0273	L	0.45352	1.415	0.35512	D	0.80071	D;D	0.71674	0.998;0.986	P;B	0.53360	0.724;0.17	T	0.02603	-1.1135	10	0.66056	D	0.02	.	14.5934	0.68386	0.0:0.0:1.0:0.0	.	193;193	Q6P3V5;Q99466	.;NOTC4_HUMAN	C	193	ENSP00000364163:R193C	ENSP00000364163:R193C	R	-	1	0	NOTCH4	32296955	0.418000	0.25440	0.199000	0.23439	0.886000	0.51366	3.468000	0.53086	2.299000	0.77371	0.561000	0.74099	CGT		0.617	NOTCH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076045.2			10	20	0	0	0	1	0	10	20					A	32188977	G	A	32188977	3	1	435	1	0	0	0	0	1	0	0	0	10551	1145	40	1	5542	1	NOTCH4	6	32188977	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	19890	32188977	138926090	3109	24034											
BTNL2	56244	broad.mit.edu	37	chr6	32363886	32363886	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaaggcagcggtactgcccGtcgtccgaaggtctggcact	9	7	13	12	4	1	0	0	0	1	0	3	1	2	0	2	4	3	3	2	4	4	1	rs548150573		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:32363886G>A	ENST00000374993.1	-	5	1007	c.1008C>T	c.(1006-1008)gaC>gaT	p.D336D	BTNL2_ENST00000454136.3_Silent_p.D336D|BTNL2_ENST00000414363.1_Silent_p.D126D|BTNL2_ENST00000374995.3_Silent_p.D242D|BTNL2_ENST00000544175.1_Silent_p.D59D|HCG23_ENST00000426643.1_RNA|BTNL2_ENST00000540315.1_Silent_p.D126D|BTNL2_ENST00000429232.2_Silent_p.D243D	NM_019602.1	NP_062548.1	Q9UIR0	BTNL2_HUMAN	butyrophilin-like 2 (MHC class II associated)	336	Ig-like V-type 3.					integral component of membrane (GO:0016021)		p.D336D(1)		central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|prostate(1)|urinary_tract(1)	19						GGTACTGCCCGTCGTCCGAAG	0.493													g|||	1	0.000199681	8e-04	0	5008	,	,		20171	0		0	False		,,,				2504	0					ENST00000454136.3																			1	Substitution - coding silent(1)	p.D336D(1)	large_intestine(1)	central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|prostate(1)|urinary_tract(1)	19						c.(1006-1008)gaC>gaT		butyrophilin-like 2 (MHC class II associated)							122	106	112					6																	32363886		1510	2709	4219	SO:0001819	synonymous_variant	56244					integral to membrane		g.chr6:32363886G>A	AF186588		6p21.3	2014-01-14			ENSG00000204290	ENSG00000204290		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Butyrophilins"	1142	protein-coding gene	gene with protein product		606000				10803852, 15735647	Standard	XM_006726138		Approved	HSBLMHC1, BTL-II, BTN7	uc003obg.1	Q9UIR0	OTTHUMG00000031102	ENST00000374993.1:c.1008C>T	6.37:g.32363886G>A						BTNL2_ENST00000429232.2_Silent_p.D243D|BTNL2_ENST00000374993.1_Silent_p.D336D|BTNL2_ENST00000374995.3_Silent_p.D242D|BTNL2_ENST00000544175.1_Silent_p.D59D|BTNL2_ENST00000540315.1_Silent_p.D126D|BTNL2_ENST00000414363.1_Silent_p.D126D	p.D336D			Q9UIR0	BTNL2_HUMAN			5	1012	-			336			Ig-like V-type 3.		A0PJV5|B0UYW9|B0V0N6|O98261|Q08E96|Q58R22|Q58R23|Q5JYF9|Q5MP42|Q5MP43|Q5RIF8|Q5SP08|Q5SP09|Q5SRW3|Q5SRW4|Q5SU36|Q95HK0	Silent	SNP	ENST00000374993.1	37	c.1008C>T																																																																																					0.493	BTNL2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_019602		20	38	0	0	0	1	0	20	38					A	32363886	G	A	32363886	2	1	435	1	0	0	0	0	0	0	0	1	1565	1136	40	1		1	BTNL2	6	32363886	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	174909	32363886	138751181	3110	24035											
BTNL2	56244	broad.mit.edu	37	chr6	32363946	32363946	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgccctcgtcaatggcgtcActcaccagtacagtcctccc	7	9	7	18	2	3	0	3	0	0	0	6	0	5	0	4	1	2	1	4	1	2	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:32363946A>G	ENST00000374993.1	-	5	947	c.948T>C	c.(946-948)agT>agC	p.S316S	BTNL2_ENST00000454136.3_Silent_p.S316S|BTNL2_ENST00000414363.1_Silent_p.S106S|BTNL2_ENST00000374995.3_Silent_p.S222S|BTNL2_ENST00000544175.1_Silent_p.S39S|HCG23_ENST00000426643.1_RNA|BTNL2_ENST00000540315.1_Silent_p.S106S|BTNL2_ENST00000429232.2_Silent_p.S223S	NM_019602.1	NP_062548.1	Q9UIR0	BTNL2_HUMAN	butyrophilin-like 2 (MHC class II associated)	316	Ig-like V-type 3.					integral component of membrane (GO:0016021)				central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|prostate(1)|urinary_tract(1)	19						CAATGGCGTCACTCACCAGTA	0.552																																						ENST00000454136.3																			0				central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|prostate(1)|urinary_tract(1)	19						c.(946-948)agT>agC		butyrophilin-like 2 (MHC class II associated)							164	111	130					6																	32363946		1511	2707	4218	SO:0001819	synonymous_variant	56244					integral to membrane		g.chr6:32363946A>G	AF186588		6p21.3	2014-01-14			ENSG00000204290	ENSG00000204290		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Butyrophilins"	1142	protein-coding gene	gene with protein product		606000				10803852, 15735647	Standard	XM_006726138		Approved	HSBLMHC1, BTL-II, BTN7	uc003obg.1	Q9UIR0	OTTHUMG00000031102	ENST00000374993.1:c.948T>C	6.37:g.32363946A>G						BTNL2_ENST00000429232.2_Silent_p.S223S|BTNL2_ENST00000374993.1_Silent_p.S316S|BTNL2_ENST00000374995.3_Silent_p.S222S|BTNL2_ENST00000544175.1_Silent_p.S39S|BTNL2_ENST00000540315.1_Silent_p.S106S|BTNL2_ENST00000414363.1_Silent_p.S106S	p.S316S			Q9UIR0	BTNL2_HUMAN			5	952	-			316			Ig-like V-type 3.		A0PJV5|B0UYW9|B0V0N6|O98261|Q08E96|Q58R22|Q58R23|Q5JYF9|Q5MP42|Q5MP43|Q5RIF8|Q5SP08|Q5SP09|Q5SRW3|Q5SRW4|Q5SU36|Q95HK0	Silent	SNP	ENST00000374993.1	37	c.948T>C																																																																																					0.552	BTNL2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_019602		14	23	0	0	0	1	0	14	23					G	32363946	A	G	32363946	2	3	435	1	0	0	0	0	0	0	0	1	1565	156	6	4		4	BTNL2	6	32363946	Silent	SNP	A	TCGA-XK-AAIW-01A-11D-A41K-08	60	32363946	138751121	3111	24036											
BTNL2	56244	broad.mit.edu	37	chr6	32372925	32372925	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	catccctgtgcacaaacacaGgtgtgctgggctctgagcgg	8	8	13	12	1	1	1	0	1	1	0	2	1	2	1	1	3	4	3	1	3	1	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:32372925G>T	ENST00000374993.1	-	2	217	c.218C>A	c.(217-219)cCt>cAt	p.P73H	BTNL2_ENST00000454136.3_Missense_Mutation_p.P73H|BTNL2_ENST00000414363.1_Intron|BTNL2_ENST00000374995.3_Missense_Mutation_p.P73H|BTNL2_ENST00000544175.1_Intron|BTNL2_ENST00000540315.1_Intron|BTNL2_ENST00000429232.2_Missense_Mutation_p.P73H	NM_019602.1	NP_062548.1	Q9UIR0	BTNL2_HUMAN	butyrophilin-like 2 (MHC class II associated)	73	Ig-like V-type 1.					integral component of membrane (GO:0016021)				central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|prostate(1)|urinary_tract(1)	19						CACAAACACAGGTGTGCTGGG	0.562																																						ENST00000454136.3																			0				central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|prostate(1)|urinary_tract(1)	19						c.(217-219)cCt>cAt		butyrophilin-like 2 (MHC class II associated)							233	221	225					6																	32372925		1511	2709	4220	SO:0001583	missense	56244					integral to membrane		g.chr6:32372925G>T	AF186588		6p21.3	2014-01-14			ENSG00000204290	ENSG00000204290		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Butyrophilins"	1142	protein-coding gene	gene with protein product		606000				10803852, 15735647	Standard	XM_006726138		Approved	HSBLMHC1, BTL-II, BTN7	uc003obg.1	Q9UIR0	OTTHUMG00000031102	ENST00000374993.1:c.218C>A	6.37:g.32372925G>T	ENSP00000364132:p.Pro73His					BTNL2_ENST00000429232.2_Missense_Mutation_p.P73H|BTNL2_ENST00000374993.1_Missense_Mutation_p.P73H|BTNL2_ENST00000374995.3_Missense_Mutation_p.P73H|BTNL2_ENST00000544175.1_Intron|BTNL2_ENST00000540315.1_Intron|BTNL2_ENST00000414363.1_Intron	p.P73H			Q9UIR0	BTNL2_HUMAN			2	222	-			73			Ig-like V-type 1.		A0PJV5|B0UYW9|B0V0N6|O98261|Q08E96|Q58R22|Q58R23|Q5JYF9|Q5MP42|Q5MP43|Q5RIF8|Q5SP08|Q5SP09|Q5SRW3|Q5SRW4|Q5SU36|Q95HK0	Missense_Mutation	SNP	ENST00000374993.1	37	c.218C>A		.	.	.	.	.	.	.	.	.	.	G	10.79	1.448646	0.26074	.	.	ENSG00000204290	ENST00000468270;ENST00000374995;ENST00000374993;ENST00000429232;ENST00000446536	T;T;T;T	0.68624	-0.34;-0.34;-0.34;-0.34	4.91	3.07	0.35406	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.670246	0.13226	N	0.404039	T	0.46776	0.1410	M	0.66506	2.035	0.09310	N	1	B	0.25390	0.125	B	0.29598	0.104	T	0.52449	-0.8574	10	0.87932	D	0	.	7.8932	0.29691	0.0851:0.0:0.7388:0.1761	.	73	Q9UIR0	BTNL2_HUMAN	H	73;73;73;73;72	ENSP00000364134:P73H;ENSP00000364132:P73H;ENSP00000411166:P73H;ENSP00000388434:P72H	ENSP00000364132:P73H	P	-	2	0	BTNL2	32480903	0.000000	0.05858	0.008000	0.14137	0.004000	0.04260	0.474000	0.22148	0.743000	0.32719	0.632000	0.83419	CCT		0.562	BTNL2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_019602		24	32	1	0	1.64293e-13	1	1.78609e-13	24	32					T	32372925	G	T	32372925	3	4	435	1	0	0	0	0	1	0	0	0	1565	1000	35	5	1169	5	BTNL2	6	32372925	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	8979	32372925	138742142	3112	24037											
HLA-DRB5	3127	broad.mit.edu	37	chr6	32489898	32489898	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tctgtgcaggaaccgcacccGctccgtcccgttgaagaaat	9	8	10	14	4	1	2	0	1	1	1	3	3	3	3	4	1	2	4	4	1	3	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:32489898G>A	ENST00000374975.3	-	2	216	c.154C>T	c.(154-156)Cgg>Tgg	p.R52W		NM_002125.3	NP_002116.2			major histocompatibility complex, class II, DR beta 5											NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|pancreas(1)|prostate(1)|stomach(2)	10						AACCGCACCCGCTCCGTCCCG	0.617																																						ENST00000374975.3																			0				NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|pancreas(1)|prostate(1)|stomach(2)	10						c.(154-156)Cgg>Tgg		major histocompatibility complex, class II, DR beta 5							28	28	28					6																	32489898		1579	3013	4592	SO:0001583	missense	3127				antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|immune response	endoplasmic reticulum membrane|Golgi apparatus|integral to membrane|late endosome membrane|lysosomal membrane|MHC class II protein complex		g.chr6:32489898G>A		CCDS4751.1	6p21.3	2013-01-11			ENSG00000198502	ENSG00000198502		"Histocompatibility complex", "Immunoglobulin superfamily / C1-set domain containing"	4953	protein-coding gene	gene with protein product		604776					Standard	NM_002125		Approved		uc003obj.3	Q30154	OTTHUMG00000031027	ENST00000374975.3:c.154C>T	6.37:g.32489898G>A	ENSP00000364114:p.Arg52Trp						p.R52W	NM_002125.3	NP_002116.2	Q30154	DRB5_HUMAN			2	216	-			52			Beta-1.			Missense_Mutation	SNP	ENST00000374975.3	37	c.154C>T	CCDS4751.1	.	.	.	.	.	.	.	.	.	.	.	12.63	1.996385	0.35226	.	.	ENSG00000198502	ENST00000374975	T	0.00297	8.23	4.81	3.93	0.45458	MHC class II, alpha/beta chain, N-terminal (1);MHC class II, beta chain, N-terminal (2);MHC classes I/II-like antigen recognition protein (1);	0.673446	0.14973	N	0.287676	T	0.00608	0.0020	H	0.97491	4.015	0.36179	D	0.849316	D	0.89917	1.0	D	0.97110	1.0	T	0.16988	-1.0384	10	0.87932	D	0	.	10.2514	0.43370	0.0:0.0:0.6403:0.3597	.	52	Q30154	DRB5_HUMAN	W	52	ENSP00000364114:R52W	ENSP00000364114:R52W	R	-	1	2	HLA-DRB5	32597876	0.819000	0.29175	0.508000	0.27688	0.011000	0.07611	1.014000	0.29950	0.992000	0.38840	-0.723000	0.03601	CGG		0.617	HLA-DRB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076022.2	NM_002125		9	14	0	0	0	1	0	9	14					A	32489898	G	A	32489898	3	1	435	1	0	0	0	0	1	0	0	0	7209	1086	38	1	666	1	HLA-DRB5	6	32489898	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	116973	32489898	138625169	3113	24038											
TAP2	5696	broad.mit.edu	37	chr6	32805627	32805627	+	IGR	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttgttgttcacctggtcctgCtccttctcctgggctccagg	2	15	10	14	0	2	0	1	0	1	0	6	0	5	0	5	3	1	4	5	3	0	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:32805627C>T	ENST00000374882.3	-	0	1124				TAP2_ENST00000374897.2_Silent_p.E128E|TAP2_ENST00000452392.2_Silent_p.E128E|TAP2_ENST00000374899.4_Silent_p.E128E	NM_148919.3	NP_683720.2	P28062	PSB8_HUMAN	proteasome (prosome, macropain) subunit, beta type, 8						anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|cytokine-mediated signaling pathway (GO:0019221)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|fat cell differentiation (GO:0045444)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|proteasome complex (GO:0000502)|proteasome core complex (GO:0005839)|spermatoproteasome complex (GO:1990111)	threonine-type endopeptidase activity (GO:0004298)			NS(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(4)|skin(1)|urinary_tract(1)	11					Carfilzomib(DB08889)	CCTGGTCCTGCTCCTTCTCCT	0.622																																					NSCLC(48;53 1172 10859 13624 22883)	ENST00000374897.2																			0											c.(382-384)gaG>gaA		transporter 2, ATP-binding cassette, sub-family B (MDR/TAP)							72	76	75					6																	32805627		1510	2709	4219	SO:0001628	intergenic_variant	6891				antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-dependent|antigen processing and presentation of endogenous peptide antigen via MHC class Ib via ER pathway, TAP-dependent|antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent|cytosol to ER transport|intracellular transport of viral proteins in host cell|peptide antigen transport|positive regulation of antigen processing and presentation of peptide antigen via MHC class I|positive regulation of T cell mediated cytotoxicity	nucleus|plasma membrane|TAP complex	ATP binding|MHC class I protein binding|oligopeptide-transporting ATPase activity|peptide antigen binding|peptide antigen-transporting ATPase activity|TAP1 binding|TAP2 binding|tapasin binding	g.chr6:32805627C>T		CCDS4756.1, CCDS4757.1	6p21.3	2013-03-27	2013-03-27		ENSG00000204264	ENSG00000204264		"Proteasome (prosome, macropain) subunits"	9545	protein-coding gene	gene with protein product		177046	"proteasome (prosome, macropain) subunit, beta type, 8 (large multifunctional protease 7)", "large multifunctional peptidase 7"	LMP7		1529427, 10329130	Standard	XM_005275000		Approved	RING10, D6S216E, PSMB5i, beta5i	uc003oce.3	P28062	OTTHUMG00000031285		6.37:g.32805627C>T						TAP2_ENST00000452392.2_Silent_p.E128E|TAP2_ENST00000374899.4_Silent_p.E128E	p.E128E	NM_000544.3	NP_000535.3	Q03519	TAP2_HUMAN			2	515	-			128					B0UZC0|Q29824|Q5JNW6|Q5QNR8|Q96J48	Silent	SNP	ENST00000374882.3	37	c.384G>A	CCDS4757.1																																																																																				0.622	PSMB8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076617.3	NM_148919		6	50	0	0	0	1	0	6	50					T	32805627	C	T	32805627	1	4	435	0	1	0	0	0	0	0	0	0	15548	796	28	3		3	TAP2	6	32805627	IGR	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	315729	32805627	138309440	3114	24039											
HLA-DMB	3109	broad.mit.edu	37	chr6	32906527	32906527	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acaattctgaagcccattgcGcaagcgctgcatcagggtgt	10	9	11	11	2	2	1	1	1	1	0	2	1	2	1	1	1	4	3	1	1	3	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:32906527G>A	ENST00000418107.2	-	2	533	c.271C>T	c.(271-273)Cgc>Tgc	p.R91C	XXbac-BPG181M17.5_ENST00000429234.1_Missense_Mutation_p.R123C|HLA-DMB_ENST00000416244.2_Missense_Mutation_p.R91C|AL645941.1_ENST00000390777.1_RNA	NM_002118.4	NP_002109.2	P28068	DMB_HUMAN	major histocompatibility complex, class II, DM beta	91	Beta-1.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|immune response (GO:0006955)|MHC class II protein complex assembly (GO:0002399)|peptide antigen assembly with MHC class II protein complex (GO:0002503)|positive regulation of T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell (GO:2001190)|positive regulation of T cell proliferation (GO:0042102)	endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|MHC class II protein complex (GO:0042613)	MHC class II protein complex binding (GO:0023026)			breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	13						AGCCCATTGCGCAAGCGCTGC	0.557																																						ENST00000416244.2																			0				breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	13						c.(271-273)Cgc>Tgc		major histocompatibility complex, class II, DM beta							127	128	127					6																	32906527		1510	2709	4219	SO:0001583	missense	3109				antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway	integral to membrane|late endosome membrane|lysosomal membrane|MHC class II protein complex		g.chr6:32906527G>A		CCDS4760.1	6p21.3	2014-05-16			ENSG00000242574	ENSG00000242574		"Histocompatibility complex", "Immunoglobulin superfamily / C1-set domain containing"	4935	protein-coding gene	gene with protein product		142856				1922365	Standard	NM_002118		Approved	D6S221E, RING7	uc003ocl.2	P28068	OTTHUMG00000031176	ENST00000418107.2:c.271C>T	6.37:g.32906527G>A	ENSP00000398890:p.Arg91Cys					HLA-DMB_ENST00000418107.2_Missense_Mutation_p.R91C|XXbac-BPG181M17.5_ENST00000429234.1_Missense_Mutation_p.R123C	p.R91C			P28068	DMB_HUMAN			2	465	-			91			Beta-1.		O77936|Q13012|Q29751|Q58ZE2|Q5SNZ8|Q5STC4|Q9XRX2	Missense_Mutation	SNP	ENST00000418107.2	37	c.271C>T	CCDS4760.1	.	.	.	.	.	.	.	.	.	.	G	14.48	2.547691	0.45383	.	.	ENSG00000242574;ENSG00000242574;ENSG00000242574;ENSG00000248993	ENST00000446948;ENST00000418107;ENST00000416244;ENST00000429234	T;T;T	0.00421	7.46;7.46;7.46	5.07	-2.05	0.07321	MHC class II, alpha/beta chain, N-terminal (1);MHC class II, beta chain, N-terminal (2);MHC classes I/II-like antigen recognition protein (1);	4.741980	0.00357	N	0.000031	T	0.00178	0.0005	N	0.22421	0.69	0.49130	P	2.4599999999996847E-4	D;D;D	0.69078	0.99;0.997;0.997	P;P;P	0.57720	0.826;0.782;0.663	T	0.49437	-0.8940	8	.	.	.	.	6.1079	0.20084	0.1282:0.0:0.1913:0.6805	.	91;91;100	E9PD01;P28068;Q59F83	.;DMB_HUMAN;.	C	91;91;91;123	ENSP00000398890:R91C;ENSP00000391010:R91C;ENSP00000412457:R123C	.	R	-	1	0	XXbac-BPG181M17.5;HLA-DMB	33014505	0.001000	0.12720	0.054000	0.19295	0.400000	0.30750	-0.712000	0.05013	-0.155000	0.11098	0.637000	0.83480	CGC		0.557	HLA-DMB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076340.2	NM_002118		24	39	0	0	0	1	0	24	39					A	32906527	G	A	32906527	3	1	435	1	0	0	0	0	1	0	0	0	7199	1087	38	1	540	1	HLA-DMB	6	32906527	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	100900	32906527	138208540	3115	24040											
HLA-DMA	3108	broad.mit.edu	37	chr6	32917165	32917165	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cagcagatctgagggcagtgCgttccggggtactggaggaa	9	7	17	8	2	1	2	0	1	1	1	2	4	2	4	1	5	3	4	1	5	2	2	rs199940435		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:32917165C>T	ENST00000374843.4	-	4	749	c.664G>A	c.(664-666)Gca>Aca	p.A222T	XXbac-BPG181M17.5_ENST00000429234.1_Intron|HLA-DMA_ENST00000395303.3_Missense_Mutation_p.A188T|HLA-DMA_ENST00000395305.3_Missense_Mutation_p.A127T|HLA-DMA_ENST00000464392.1_5'UTR	NM_006120.3	NP_006111.2	P28067	DMA_HUMAN	major histocompatibility complex, class II, DM alpha	222	Connecting peptide. {ECO:0000255}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|chaperone mediated protein folding requiring cofactor (GO:0051085)|immunoglobulin mediated immune response (GO:0016064)|inner ear development (GO:0048839)|peptide antigen assembly with MHC class II protein complex (GO:0002503)|positive regulation of immune response (GO:0050778)|positive regulation of T cell differentiation (GO:0045582)|positive thymic T cell selection (GO:0045059)|protein transport (GO:0015031)	cell surface (GO:0009986)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|MHC class II protein complex (GO:0042613)|multivesicular body (GO:0005771)	MHC class II protein complex binding (GO:0023026)	p.A222S(2)		kidney(1)|large_intestine(2)|lung(8)	11						GAGGGCAGTGCGTTCCGGGGT	0.587																																						ENST00000374843.4																			2	Substitution - Missense(2)	p.A222S(2)	lung(2)	kidney(1)|large_intestine(2)|lung(8)	11						c.(664-666)Gca>Aca		major histocompatibility complex, class II, DM alpha		C	THR/ALA	0,4406		0,0,2203	76	70	72		664	2.1	0.1	6		72	1,8599	1.2+/-3.3	0,1,4299	yes	missense	HLA-DMA	NM_006120.3	58	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	222/262	32917165	1,13005	2203	4300	6503	SO:0001583	missense	3108					integral to membrane|MHC class II protein complex		g.chr6:32917165C>T		CCDS4761.1	6p21.3	2013-01-11			ENSG00000204257	ENSG00000204257		"Histocompatibility complex", "Immunoglobulin superfamily / C1-set domain containing"	4934	protein-coding gene	gene with protein product		142855				1922385	Standard	NM_006120		Approved	D6S222E, RING6	uc003ocm.2	P28067	OTTHUMG00000031173	ENST00000374843.4:c.664G>A	6.37:g.32917165C>T	ENSP00000363976:p.Ala222Thr					HLA-DMA_ENST00000395303.3_Missense_Mutation_p.A188T|HLA-DMA_ENST00000395305.3_Missense_Mutation_p.A127T|XXbac-BPG181M17.5_ENST00000429234.1_Intron|HLA-DMA_ENST00000464392.1_5'UTR	p.A222T	NM_006120.3	NP_006111.2	Q31604	Q31604_HUMAN			4	749	-			222					Q29639|Q29640	Missense_Mutation	SNP	ENST00000374843.4	37	c.664G>A	CCDS4761.1	.	.	.	.	.	.	.	.	.	.	C	8.554	0.876309	0.17395	0.0	1.16E-4	ENSG00000204257	ENST00000395305;ENST00000395303;ENST00000374843;ENST00000456800	T;T;T;T	0.01446	5.43;4.88;5.95;5.89	5.13	2.13	0.27403	.	0.403246	0.29424	N	0.012183	T	0.01254	0.0041	L	0.58669	1.825	0.09310	N	1	D	0.71674	0.998	P	0.45167	0.472	T	0.49303	-0.8954	10	0.51188	T	0.08	.	12.6794	0.56914	0.0:0.5045:0.4954:0.0	.	222	Q31604	.	T	127;188;222;252	ENSP00000378716:A127T;ENSP00000378714:A188T;ENSP00000363976:A222T;ENSP00000409668:A252T	ENSP00000363976:A222T	A	-	1	0	HLA-DMA	33025143	0.188000	0.23250	0.059000	0.19551	0.015000	0.08874	0.297000	0.19101	0.822000	0.34565	-0.189000	0.12847	GCA		0.587	HLA-DMA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076325.2	NM_006120		3	3	0	0	0	1	0	3	3					T	32917165	C	T	32917165	3	4	435	1	0	0	0	0	1	0	0	0	7198	768	27	1	129	1	HLA-DMA	6	32917165	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	10638	32917165	138197902	3116	24041											
BRD2	6046	broad.mit.edu	37	chr6	32946063	32946063	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caaggggcctagggcaccccGcccacctcaacctaagaagt	11	4	10	16	1	1	1	1	0	0	1	1	1	1	1	6	3	1	1	6	3	5	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:32946063G>A	ENST00000374825.4	+	10	3440	c.1739G>A	c.(1738-1740)cGc>cAc	p.R580H	BRD2_ENST00000395289.2_Missense_Mutation_p.R580H|BRD2_ENST00000443797.2_Missense_Mutation_p.R460H|BRD2_ENST00000395287.1_Missense_Mutation_p.R580H|BRD2_ENST00000374831.4_Missense_Mutation_p.R580H|BRD2_ENST00000449085.2_Missense_Mutation_p.R533H	NM_005104.3	NP_005095.1	P25440	BRD2_HUMAN	bromodomain containing 2	580					chromatin modification (GO:0016568)|nucleosome assembly (GO:0006334)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|lysine-acetylated histone binding (GO:0070577)			central_nervous_system(3)|stomach(2)	5						AGGGCACCCCGCCCACCTCAA	0.552																																						ENST00000395289.2																			0				central_nervous_system(3)|stomach(2)	5						c.(1738-1740)cGc>cAc		bromodomain containing 2							126	131	129					6																	32946063		1511	2709	4220	SO:0001583	missense	6046				spermatogenesis	nucleus	protein serine/threonine kinase activity	g.chr6:32946063G>A	X96670	CCDS4762.1, CCDS56420.1, CCDS56421.1	6p21.3	2010-12-23	2002-01-14		ENSG00000204256	ENSG00000204256			1103	protein-coding gene	gene with protein product		601540	"bromodomain-containing 2"			1352711, 8781126	Standard	NM_005104		Approved	KIAA9001, RING3, D6S113E, NAT, FSRG1	uc021ywf.1	P25440	OTTHUMG00000031241	ENST00000374825.4:c.1739G>A	6.37:g.32946063G>A	ENSP00000363958:p.Arg580His					BRD2_ENST00000449085.2_Missense_Mutation_p.R533H|BRD2_ENST00000374825.4_Missense_Mutation_p.R580H|BRD2_ENST00000395287.1_Missense_Mutation_p.R580H|BRD2_ENST00000443797.2_Missense_Mutation_p.R460H|BRD2_ENST00000374831.4_Missense_Mutation_p.R580H	p.R580H			P25440	BRD2_HUMAN			10	3340	+			580					A2AAU0|B0S7P0|B1AZT1|O00699|O00700|Q15310|Q5STC9|Q63HQ9|Q658Y7|Q6P3U2|Q969U4	Missense_Mutation	SNP	ENST00000374825.4	37	c.1739G>A	CCDS4762.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.74|13.74	2.325882|2.325882	0.41197|0.41197	.|.	.|.	ENSG00000204256|ENSG00000204256	ENST00000449025|ENST00000374825;ENST00000374831;ENST00000395289;ENST00000443797;ENST00000395287;ENST00000449085	.|T;T;T;T;T;T	.|0.26660	.|1.72;1.72;1.72;1.72;1.72;1.72	5.24|5.24	5.24|5.24	0.73138|0.73138	.|.	.|0.000000	.|0.51477	.|D	.|0.000095	T|T	0.10165|0.10165	0.0249|0.0249	N|N	0.19112|0.19112	0.55|0.55	0.39722|0.39722	D|D	0.971487|0.971487	.|D;D	.|0.61080	.|0.989;0.968	.|P;B	.|0.45232	.|0.474;0.105	T|T	0.02805|0.02805	-1.1108|-1.1108	5|10	.|0.42905	.|T	.|0.14	-12.0875|-12.0875	9.6776|9.6776	0.40050|0.40050	0.0918:0.0:0.9082:0.0|0.0918:0.0:0.9082:0.0	.|.	.|580;580	.|A2AAU0;P25440	.|.;BRD2_HUMAN	T|H	586|580;580;580;460;580;533	.|ENSP00000363958:R580H;ENSP00000363964:R580H;ENSP00000378704:R580H;ENSP00000413495:R460H;ENSP00000378702:R580H;ENSP00000409145:R533H	.|ENSP00000363958:R580H	A|R	+|+	1|2	0|0	BRD2|BRD2	33054041|33054041	0.154000|0.154000	0.22792|0.22792	0.972000|0.972000	0.41901|0.41901	0.715000|0.715000	0.41141|0.41141	2.900000|2.900000	0.48687|0.48687	2.717000|2.717000	0.92951|0.92951	0.549000|0.549000	0.68633|0.68633	GCC|CGC		0.552	BRD2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000076503.2			26	38	0	0	0	1	0	26	38					A	32946063	G	A	32946063	3	1	435	1	0	0	0	0	1	0	0	0	1502	1087	38	1	1773	1	BRD2	6	32946063	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	28898	32946063	138169004	3117	24042											
VPS52	6293	broad.mit.edu	37	chr6	33236315	33236315	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agcacgcctctgacatctgcGcaggctgctgtgcctctagc	6	9	11	15	2	3	1	0	1	3	0	3	1	3	1	2	1	5	4	2	1	1	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:33236315G>A	ENST00000445902.2	-	7	878	c.660C>T	c.(658-660)tgC>tgT	p.C220C	VPS52_ENST00000478934.1_5'UTR|VPS52_ENST00000436044.2_Silent_p.C95C|VPS52_ENST00000482399.1_3'UTR	NM_022553.4	NP_072047.4	Q8N1B4	VPS52_HUMAN	vacuolar protein sorting 52 homolog (S. cerevisiae)	220					ectodermal cell differentiation (GO:0010668)|embryonic ectodermal digestive tract development (GO:0048611)|protein transport (GO:0015031)	endosome (GO:0005768)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(8)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	28						TGACATCTGCGCAGGCTGCTG	0.597																																						ENST00000445902.2																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(8)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	28						c.(658-660)tgC>tgT		vacuolar protein sorting 52 homolog (S. cerevisiae)							89	78	82					6																	33236315		1509	2708	4217	SO:0001819	synonymous_variant	6293				protein transport	endosome membrane|Golgi apparatus		g.chr6:33236315G>A	AJ223319	CCDS4770.2	6p21.3	2010-02-17	2006-12-19	2003-09-05	ENSG00000223501	ENSG00000223501			10518	protein-coding gene	gene with protein product		603443	"SAC2 suppressor of actin mutations 2-like (yeast)", "vacuolar protein sorting 52 (yeast)"	SACM2L		9790748	Standard	NM_022553		Approved	ARE1	uc003odm.1	Q8N1B4	OTTHUMG00000031276	ENST00000445902.2:c.660C>T	6.37:g.33236315G>A						VPS52_ENST00000436044.2_Silent_p.C95C|VPS52_ENST00000482399.1_3'UTR|VPS52_ENST00000478934.1_5'UTR	p.C220C	NM_022553.4	NP_072047.4	Q8N1B4	VPS52_HUMAN			7	878	-			220					A2BF38|B0UZZ4|B4DNI9|Q53GR4|Q5JPA0|Q5SQW1|Q8IUN6|Q9NPT5	Silent	SNP	ENST00000445902.2	37	c.660C>T	CCDS4770.2																																																																																				0.597	VPS52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076598.2	NM_022553		24	29	0	0	0	1	0	24	29					A	33236315	G	A	33236315	2	1	435	1	0	0	0	0	0	0	0	1	17211	1079	38	1		1	VPS52	6	33236315	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	290252	33236315	137878752	3118	24043											
VPS52	6293	broad.mit.edu	37	chr6	33236399	33236399	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agctgctccaagaacctgggCtctgtcactggagcctccag	8	8	11	14	0	2	1	1	0	1	1	4	2	4	2	4	2	4	3	4	2	2	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:33236399C>A	ENST00000445902.2	-	7	794	c.576G>T	c.(574-576)gaG>gaT	p.E192D	VPS52_ENST00000478934.1_5'UTR|VPS52_ENST00000436044.2_Missense_Mutation_p.E67D|VPS52_ENST00000482399.1_3'UTR	NM_022553.4	NP_072047.4	Q8N1B4	VPS52_HUMAN	vacuolar protein sorting 52 homolog (S. cerevisiae)	192					ectodermal cell differentiation (GO:0010668)|embryonic ectodermal digestive tract development (GO:0048611)|protein transport (GO:0015031)	endosome (GO:0005768)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(8)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	28						AGAACCTGGGCTCTGTCACTG	0.592																																						ENST00000445902.2																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(8)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	28						c.(574-576)gaG>gaT		vacuolar protein sorting 52 homolog (S. cerevisiae)							53	51	52					6																	33236399		1510	2708	4218	SO:0001583	missense	6293				protein transport	endosome membrane|Golgi apparatus		g.chr6:33236399C>A	AJ223319	CCDS4770.2	6p21.3	2010-02-17	2006-12-19	2003-09-05	ENSG00000223501	ENSG00000223501			10518	protein-coding gene	gene with protein product		603443	"SAC2 suppressor of actin mutations 2-like (yeast)", "vacuolar protein sorting 52 (yeast)"	SACM2L		9790748	Standard	NM_022553		Approved	ARE1	uc003odm.1	Q8N1B4	OTTHUMG00000031276	ENST00000445902.2:c.576G>T	6.37:g.33236399C>A	ENSP00000409952:p.Glu192Asp					VPS52_ENST00000436044.2_Missense_Mutation_p.E67D|VPS52_ENST00000482399.1_3'UTR|VPS52_ENST00000478934.1_5'UTR	p.E192D	NM_022553.4	NP_072047.4	Q8N1B4	VPS52_HUMAN			7	794	-			192					A2BF38|B0UZZ4|B4DNI9|Q53GR4|Q5JPA0|Q5SQW1|Q8IUN6|Q9NPT5	Missense_Mutation	SNP	ENST00000445902.2	37	c.576G>T	CCDS4770.2	.	.	.	.	.	.	.	.	.	.	C	11.11	1.542644	0.27563	.	.	ENSG00000223501	ENST00000445902;ENST00000418054;ENST00000436044	.	.	.	5.1	1.18	0.20946	.	0.153007	0.56097	D	0.000022	T	0.16811	0.0404	L	0.33245	0.995	0.41139	D	0.985948	B;B;B	0.18863	0.031;0.0;0.031	B;B;B	0.27796	0.083;0.003;0.083	T	0.07139	-1.0788	9	0.27082	T	0.32	-22.9928	1.4044	0.02277	0.1483:0.4601:0.1441:0.2475	.	170;67;192	B4DS44;B3KMF7;Q8N1B4	.;.;VPS52_HUMAN	D	192;170;67	.	ENSP00000414785:E170D	E	-	3	2	VPS52	33344377	0.995000	0.38212	1.000000	0.80357	0.876000	0.50452	0.317000	0.19487	0.439000	0.26476	-1.023000	0.02433	GAG		0.592	VPS52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076598.2	NM_022553		17	17	1	0	2.35188e-11	1	2.53156e-11	17	17					A	33236399	C	A	33236399	3	1	435	1	0	0	0	0	1	0	0	0	17211	796	28	5	1651	5	VPS52	6	33236399	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	84	33236399	137878668	3119	24044											
B3GALT4	8705	broad.mit.edu	37	chr6	33246264	33246264	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gacggggaaaggactgcgccCttttgctcctggttccaggg	6	9	15	11	2	0	0	0	0	0	0	2	3	2	2	3	5	2	2	3	5	1	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:33246264C>A	ENST00000451237.1	+	1	1348	c.1068C>A	c.(1066-1068)ccC>ccA	p.P356P		NM_003782.3	NP_003773.1	O96024	B3GT4_HUMAN	UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 4	356					protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	ganglioside galactosyltransferase activity (GO:0047915)|UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity (GO:0008499)			breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|pancreas(1)|prostate(1)|soft_tissue(1)|urinary_tract(2)	13						GGACTGCGCCCTTTTGCTCCT	0.612																																						ENST00000451237.1																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|pancreas(1)|prostate(1)|soft_tissue(1)|urinary_tract(2)	13						c.(1066-1068)ccC>ccA		UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 4							113	132	126					6																	33246264		2203	4300	6503	SO:0001819	synonymous_variant	8705				protein glycosylation	Golgi membrane|integral to membrane	ganglioside galactosyltransferase activity|UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity	g.chr6:33246264C>A	Y15061	CCDS34425.1	6p21.3	2013-02-19			ENSG00000235863	ENSG00000235863		"Beta 3-glycosyltransferases"	919	protein-coding gene	gene with protein product		603095				9582303	Standard	NM_003782		Approved	beta3Gal-T4, GalT4	uc003odr.3	O96024	OTTHUMG00000031100	ENST00000451237.1:c.1068C>A	6.37:g.33246264C>A							p.P356P	NM_003782.3	NP_003773.1	O96024	B3GT4_HUMAN			1	1348	+			356						Silent	SNP	ENST00000451237.1	37	c.1068C>A	CCDS34425.1																																																																																				0.612	B3GALT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076162.2			33	58	1	0	3.21399e-22	1	3.57409e-22	33	58					A	33246264	C	A	33246264	2	1	435	1	0	0	0	0	0	0	0	1	1249	668	24	5		5	B3GALT4	6	33246264	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	9865	33246264	137868803	3120	24045											
WDR46	9277	broad.mit.edu	37	chr6	33248658	33248658	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cagtcccctctgggagaaggCcaggtgccctgctccatggg	6	7	14	14	0	1	1	0	0	1	1	3	2	3	1	5	4	2	1	5	4	1	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:33248658C>T	ENST00000374617.4	-	11	1578	c.1222G>A	c.(1222-1224)Gcc>Acc	p.A408T	B3GALT4_ENST00000606990.1_Intron	NM_001164267.1|NM_005452.5	NP_001157739.1|NP_005443.3	O15213	WDR46_HUMAN	WD repeat domain 46	408							poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)	20						TGGGAGAAGGCCAGGTGCCCT	0.637																																						ENST00000374617.4																			0				NS(1)|breast(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)	20						c.(1222-1224)Gcc>Acc		WD repeat domain 46							70	74	72					6																	33248658		2203	4300	6503	SO:0001583	missense	9277							g.chr6:33248658C>T	Z97184	CCDS4772.1	6p21.3	2013-01-09	2005-05-31	2005-05-31	ENSG00000227057	ENSG00000227057		"WD repeat domain containing"	13923	protein-coding gene	gene with protein product		611440	"chromosome 6 open reading frame 11"	C6orf11		9545376, 9521053	Standard	NM_005452		Approved	BING4, UTP7	uc003ods.3	O15213	OTTHUMG00000031192	ENST00000374617.4:c.1222G>A	6.37:g.33248658C>T	ENSP00000363746:p.Ala408Thr					B3GALT4_ENST00000606990.1_Intron	p.A408T	NM_001164267.1|NM_005452.5	NP_001157739.1|NP_005443.3	O15213	WDR46_HUMAN			11	1578	-			408					A6NDP5|Q5HYZ0|Q5STK5|Q5STR3	Missense_Mutation	SNP	ENST00000374617.4	37	c.1222G>A	CCDS4772.1	.	.	.	.	.	.	.	.	.	.	C	7.996	0.754294	0.15778	.	.	ENSG00000227057	ENST00000374617	T	0.01464	4.86	5.39	4.51	0.55191	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.227314	0.45867	N	0.000324	T	0.00637	0.0021	L	0.39397	1.21	0.35964	D	0.83483	B;B	0.09022	0.002;0.001	B;B	0.09377	0.004;0.002	T	0.47699	-0.9097	10	0.15499	T	0.54	-12.0178	7.1188	0.25431	0.1686:0.7455:0.0:0.0859	.	354;408	B4DP15;O15213	.;WDR46_HUMAN	T	408	ENSP00000363746:A408T	ENSP00000363746:A408T	A	-	1	0	WDR46	33356636	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.517000	0.35867	1.486000	0.48398	0.549000	0.68633	GCC		0.637	WDR46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076382.2	NM_005452		13	36	0	0	0	1	0	13	36					T	33248658	C	T	33248658	3	4	435	1	0	0	0	0	1	0	0	0	17296	739	26	3	630	3	WDR46	6	33248658	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	2394	33248658	137866409	3121	24046											
PHF1	5252	broad.mit.edu	37	chr6	33381025	33381025	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccagcccctggagagggagaGggcacatcctgggtatgccg	8	5	16	12	1	0	2	0	0	0	2	1	4	1	2	5	4	2	2	5	4	1	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:33381025G>T	ENST00000374516.3	+	5	661	c.390G>T	c.(388-390)gaG>gaT	p.E130D	PHF1_ENST00000374512.3_Missense_Mutation_p.E130D	NM_024165.2	NP_077084.1	O43189	PHF1_HUMAN	PHD finger protein 1	130					cellular response to DNA damage stimulus (GO:0006974)|chromatin modification (GO:0016568)|negative regulation of histone H3-K27 methylation (GO:0061086)|positive regulation of histone H3-K27 methylation (GO:0061087)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)	methylated histone binding (GO:0035064)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(5)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19		Ovarian(999;0.0443)				GAGAGGGAGAGGGCACATCCT	0.562																																						ENST00000374516.3																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(5)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19						c.(388-390)gaG>gaT		PHD finger protein 1							113	112	112					6																	33381025		2203	4300	6503	SO:0001583	missense	5252				chromatin modification	nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr6:33381025G>T	AF029678	CCDS4777.1, CCDS4778.1	6p21.3	2013-01-28			ENSG00000112511	ENSG00000112511		"Tudor domain containing", "Zinc fingers, PHD-type"	8919	protein-coding gene	gene with protein product	"tudor domain containing 19C"	602881				9545646, 18385154	Standard	NM_024165		Approved	MTF2L2, TDRD19C	uc003oeh.3	O43189	OTTHUMG00000031105	ENST00000374516.3:c.390G>T	6.37:g.33381025G>T	ENSP00000363640:p.Glu130Asp					PHF1_ENST00000374512.3_Missense_Mutation_p.E130D	p.E130D	NM_024165.2	NP_077084.1	O43189	PHF1_HUMAN			5	661	+		Ovarian(999;0.0443)	130					B1AZX2|B1AZX3|O60929|Q5SU07|Q5SU08|Q96KM7	Missense_Mutation	SNP	ENST00000374516.3	37	c.390G>T	CCDS4777.1	.	.	.	.	.	.	.	.	.	.	G	8.470	0.857231	0.17106	.	.	ENSG00000112511	ENST00000427004;ENST00000428274;ENST00000374512;ENST00000374516	D;D;D;D	0.85171	-1.95;-1.95;-1.95;-1.95	4.9	1.82	0.25136	Zinc finger, PHD-finger (2);Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, PHD-type, conserved site (1);Zinc finger, PHD-type (1);Zinc finger, FYVE/PHD-type (1);	0.520018	0.20907	N	0.083525	T	0.39963	0.1098	N	0.03084	-0.415	0.28243	N	0.925601	B;B	0.06786	0.001;0.0	B;B	0.08055	0.003;0.001	T	0.36114	-0.9761	10	0.14656	T	0.56	-26.8308	5.8216	0.18530	0.0952:0.0:0.4474:0.4574	.	130;130	O43189-2;O43189	.;PHF1_HUMAN	D	130	ENSP00000410494:E130D;ENSP00000392697:E130D;ENSP00000363636:E130D;ENSP00000363640:E130D	ENSP00000363636:E130D	E	+	3	2	PHF1	33489003	1.000000	0.71417	0.998000	0.56505	0.994000	0.84299	0.990000	0.29642	0.636000	0.30508	-0.150000	0.13652	GAG		0.562	PHF1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076175.3			8	31	1	0	1.76689e-08	1	1.86465e-08	8	31					T	33381025	G	T	33381025	3	4	435	1	0	0	0	0	1	0	0	0	11820	991	35	5	404	5	PHF1	6	33381025	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	132367	33381025	137734042	3122	24047											
SYNGAP1	8831	broad.mit.edu	37	chr6	33405973	33405973	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcaccaaccattatcggatgCtgtgtgcagtcttggagccc	8	11	10	12	1	2	0	1	0	1	0	3	2	2	2	3	2	4	2	3	2	2	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:33405973C>A	ENST00000418600.2	+	8	1392	c.1291C>A	c.(1291-1293)Ctg>Atg	p.L431M	SYNGAP1_ENST00000293748.5_Missense_Mutation_p.L431M|SYNGAP1_ENST00000496374.1_3'UTR|SYNGAP1_ENST00000428982.2_Missense_Mutation_p.L372M|MIR5004_ENST00000579078.1_RNA	NM_006772.2	NP_006763.2	Q96PV0	SYGP1_HUMAN	synaptic Ras GTPase activating protein 1	431					dendrite development (GO:0016358)|negative regulation of axonogenesis (GO:0050771)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of Ras protein signal transduction (GO:0046580)|pattern specification process (GO:0007389)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|receptor clustering (GO:0043113)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of MAPK cascade (GO:0043408)|regulation of synapse structure and activity (GO:0050803)|regulation of synaptic plasticity (GO:0048167)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	Rab GTPase activator activity (GO:0005097)|Ras GTPase activator activity (GO:0005099)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(15)|ovary(7)|pancreas(1)|stomach(1)|urinary_tract(1)	43						TTATCGGATGCTGTGTGCAGT	0.527																																						ENST00000418600.2																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(15)|ovary(7)|pancreas(1)|stomach(1)|urinary_tract(1)	43						c.(1291-1293)Ctg>Atg		synaptic Ras GTPase activating protein 1							160	157	158					6																	33405973		2203	4300	6503	SO:0001583	missense	8831				negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity|SH3 domain binding	g.chr6:33405973C>A	AB067525	CCDS34434.2	6p21.3	2010-06-25	2010-06-25		ENSG00000197283	ENSG00000197283			11497	protein-coding gene	gene with protein product		603384	"synaptic Ras GTPase activating protein 1 homolog (rat)"			9581761, 18323856	Standard	NM_006772		Approved	SYNGAP, RASA5, KIAA1938	uc011dri.2	Q96PV0	OTTHUMG00000031096	ENST00000418600.2:c.1291C>A	6.37:g.33405973C>A	ENSP00000403636:p.Leu431Met					SYNGAP1_ENST00000428982.2_Missense_Mutation_p.L372M|SYNGAP1_ENST00000293748.5_Missense_Mutation_p.L431M|SYNGAP1_ENST00000496374.1_3'UTR	p.L431M	NM_006772.2	NP_006763.2	Q96PV0	SYGP1_HUMAN			8	1392	+			431					A2AB17|A2BEL6|A2BEL7|A8MQC4|Q8TCS2|Q9UGE2	Missense_Mutation	SNP	ENST00000418600.2	37	c.1291C>A	CCDS34434.2	.	.	.	.	.	.	.	.	.	.	c	15.15	2.748311	0.49257	.	.	ENSG00000197283	ENST00000293748;ENST00000418600;ENST00000449372;ENST00000428982	T;T;T	0.25414	1.8;1.8;1.8	4.86	4.0	0.46444	Rho GTPase activation protein (1);Ras GTPase-activating protein (1);	0.093820	0.44483	D	0.000445	T	0.19327	0.0464	L	0.46670	1.46	0.51767	D	0.999939	P;D;D;P	0.55385	0.95;0.971;0.971;0.841	P;P;P;P	0.48704	0.455;0.531;0.531;0.587	T	0.01945	-1.1242	10	0.66056	D	0.02	.	13.128	0.59366	0.0:0.838:0.162:0.0	.	431;431;431;431	Q96PV0;Q96PV0-2;Q96PV0-4;B7ZCA0	SYGP1_HUMAN;.;.;.	M	431;431;431;372	ENSP00000293748:L431M;ENSP00000403636:L431M;ENSP00000412475:L372M	ENSP00000293748:L431M	L	+	1	2	SYNGAP1	33513951	1.000000	0.71417	0.998000	0.56505	0.981000	0.71138	3.897000	0.56273	1.271000	0.44313	-0.127000	0.14921	CTG		0.527	SYNGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076151.4	XM_166407		66	82	1	0	2.02796e-37	1	2.27767e-37	66	82					A	33405973	C	A	33405973	3	1	435	1	0	0	0	0	1	0	0	0	15444	796	28	5	1321	5	SYNGAP1	6	33405973	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	24948	33405973	137709094	3123	24048											
SYNGAP1	8831	broad.mit.edu	37	chr6	33411028	33411028	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggggagtggctcatccatcaCggcggctggcatgcgcctca	6	7	15	13	3	3	0	3	0	0	0	4	1	4	1	2	6	1	3	2	6	0	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:33411028C>T	ENST00000418600.2	+	15	2800	c.2699C>T	c.(2698-2700)aCg>aTg	p.T900M	SYNGAP1_ENST00000293748.5_Missense_Mutation_p.T900M|SYNGAP1_ENST00000496374.1_3'UTR|SYNGAP1_ENST00000428982.2_Missense_Mutation_p.T841M	NM_006772.2	NP_006763.2	Q96PV0	SYGP1_HUMAN	synaptic Ras GTPase activating protein 1	900					dendrite development (GO:0016358)|negative regulation of axonogenesis (GO:0050771)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of Ras protein signal transduction (GO:0046580)|pattern specification process (GO:0007389)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|receptor clustering (GO:0043113)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of MAPK cascade (GO:0043408)|regulation of synapse structure and activity (GO:0050803)|regulation of synaptic plasticity (GO:0048167)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	Rab GTPase activator activity (GO:0005097)|Ras GTPase activator activity (GO:0005099)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(15)|ovary(7)|pancreas(1)|stomach(1)|urinary_tract(1)	43						TCATCCATCACGGCGGCTGGC	0.667																																						ENST00000418600.2																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(15)|ovary(7)|pancreas(1)|stomach(1)|urinary_tract(1)	43						c.(2698-2700)aCg>aTg		synaptic Ras GTPase activating protein 1							65	65	65					6																	33411028		2201	4299	6500	SO:0001583	missense	8831				negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity|SH3 domain binding	g.chr6:33411028C>T	AB067525	CCDS34434.2	6p21.3	2010-06-25	2010-06-25		ENSG00000197283	ENSG00000197283			11497	protein-coding gene	gene with protein product		603384	"synaptic Ras GTPase activating protein 1 homolog (rat)"			9581761, 18323856	Standard	NM_006772		Approved	SYNGAP, RASA5, KIAA1938	uc011dri.2	Q96PV0	OTTHUMG00000031096	ENST00000418600.2:c.2699C>T	6.37:g.33411028C>T	ENSP00000403636:p.Thr900Met					SYNGAP1_ENST00000428982.2_Missense_Mutation_p.T841M|SYNGAP1_ENST00000293748.5_Missense_Mutation_p.T900M|SYNGAP1_ENST00000496374.1_3'UTR	p.T900M	NM_006772.2	NP_006763.2	Q96PV0	SYGP1_HUMAN			15	2800	+			900					A2AB17|A2BEL6|A2BEL7|A8MQC4|Q8TCS2|Q9UGE2	Missense_Mutation	SNP	ENST00000418600.2	37	c.2699C>T	CCDS34434.2	.	.	.	.	.	.	.	.	.	.	C	11.42	1.632715	0.29068	.	.	ENSG00000197283	ENST00000293748;ENST00000418600;ENST00000449372;ENST00000428982	T;T;T	0.11277	2.79;2.79;2.79	4.45	4.45	0.53987	.	0.407546	0.26166	N	0.025954	T	0.01976	0.0062	N	0.11064	0.09	0.28100	N	0.931436	B;B;B	0.21753	0.06;0.049;0.049	B;B;B	0.16722	0.016;0.009;0.009	T	0.39820	-0.9595	10	0.42905	T	0.14	.	8.245	0.31682	0.0:0.8942:0.0:0.1058	.	900;900;900	Q96PV0;Q96PV0-2;Q96PV0-4	SYGP1_HUMAN;.;.	M	900;900;886;841	ENSP00000293748:T900M;ENSP00000403636:T900M;ENSP00000412475:T841M	ENSP00000293748:T900M	T	+	2	0	SYNGAP1	33519006	0.887000	0.30362	0.929000	0.37066	0.975000	0.68041	1.498000	0.35660	2.299000	0.77371	0.591000	0.81541	ACG		0.667	SYNGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076151.4	XM_166407		22	41	0	0	0	1	0	22	41					T	33411028	C	T	33411028	3	4	435	1	0	0	0	0	1	0	0	0	15444	536	19	1	2757	1	SYNGAP1	6	33411028	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	5055	33411028	137704039	3124	24049											
ZBTB9	221504	broad.mit.edu	37	chr6	33423633	33423633	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtcctcatggaccccacccActgcccatgactgctactcc	7	8	6	20	1	1	1	1	1	0	0	3	2	3	2	6	1	3	1	6	1	1	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:33423633A>G	ENST00000395064.2	+	2	1024	c.756A>G	c.(754-756)ccA>ccG	p.P252P		NM_152735.3	NP_689948.1	Q96C00	ZBTB9_HUMAN	zinc finger and BTB domain containing 9	252	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|skin(1)|upper_aerodigestive_tract(2)	11						GACCCCACCCACTGCCCATGA	0.562																																						ENST00000395064.2																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|skin(1)|upper_aerodigestive_tract(2)	11						c.(754-756)ccA>ccG		zinc finger and BTB domain containing 9							64	66	65					6																	33423633		2203	4300	6503	SO:0001819	synonymous_variant	221504				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:33423633A>G	AK122644	CCDS4780.1	6p21.31	2013-01-09			ENSG00000213588	ENSG00000213588		"-", "BTB/POZ domain containing", "Zinc fingers, C2H2-type"	28323	protein-coding gene	gene with protein product						12477932	Standard	NM_152735		Approved	MGC23166, ZNF919	uc003oeq.3	Q96C00	OTTHUMG00000140180	ENST00000395064.2:c.756A>G	6.37:g.33423633A>G							p.P252P	NM_152735.3	NP_689948.1	Q96C00	ZBTB9_HUMAN			2	1024	+			252			Pro-rich.		A2AB19	Silent	SNP	ENST00000395064.2	37	c.756A>G	CCDS4780.1																																																																																				0.562	ZBTB9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276533.1	NM_152735		13	25	0	0	0	1	0	13	25					G	33423633	A	G	33423633	2	3	435	1	0	0	0	0	0	0	0	1	17555	146	6	4		4	ZBTB9	6	33423633	Silent	SNP	A	TCGA-XK-AAIW-01A-11D-A41K-08	12605	33423633	137691434	3125	24050											
BAK1	578	broad.mit.edu	37	chr6	33543083	33543083	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggctggggtacctggtggcAatcttggtgaagtactcata	8	12	14	7	0	2	1	1	1	1	0	2	1	2	1	1	6	2	4	1	6	5	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:33543083A>G	ENST00000374467.3	-	4	590	c.342T>C	c.(340-342)atT>atC	p.I114I	BAK1_ENST00000360661.5_Silent_p.I114I|BAK1_ENST00000442998.2_Silent_p.I114I	NM_001188.3	NP_001179.1	Q16611	BAK_HUMAN	BCL2-antagonist/killer 1	114					activation of cysteine-type endopeptidase activity (GO:0097202)|activation of cysteine-type endopeptidase activity involved in apoptotic process by cytochrome c (GO:0008635)|aging (GO:0007568)|apoptotic process (GO:0006915)|apoptotic process involved in patterning of blood vessels (GO:1902262)|apoptotic signaling pathway (GO:0097190)|B cell apoptotic process (GO:0001783)|B cell homeostasis (GO:0001782)|B cell negative selection (GO:0002352)|blood vessel remodeling (GO:0001974)|brain development (GO:0007420)|cell proliferation (GO:0008283)|cellular response to mechanical stimulus (GO:0071260)|cellular response to UV (GO:0034644)|endocrine pancreas development (GO:0031018)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|establishment or maintenance of transmembrane electrochemical gradient (GO:0010248)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|fibroblast apoptotic process (GO:0044346)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|limb morphogenesis (GO:0035108)|mitochondrial fusion (GO:0008053)|myeloid cell homeostasis (GO:0002262)|negative regulation of cell proliferation (GO:0008285)|negative regulation of endoplasmic reticulum calcium ion concentration (GO:0032471)|negative regulation of gene expression (GO:0010629)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|organ regeneration (GO:0031100)|positive regulation of apoptotic process (GO:0043065)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of endoplasmic reticulum unfolded protein response (GO:1900103)|positive regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway (GO:1901030)|positive regulation of proteolysis (GO:0045862)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|post-embryonic camera-type eye morphogenesis (GO:0048597)|regulation of cell cycle (GO:0051726)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of protein heterodimerization activity (GO:0043497)|regulation of protein homodimerization activity (GO:0043496)|release of cytochrome c from mitochondria (GO:0001836)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to fungus (GO:0009620)|response to gamma radiation (GO:0010332)|response to hydrogen peroxide (GO:0042542)|response to mycotoxin (GO:0010046)|response to organic cyclic compound (GO:0014070)|response to UV-C (GO:0010225)|thymocyte apoptotic process (GO:0070242)|vagina development (GO:0060068)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|integral component of mitochondrial outer membrane (GO:0031307)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|pore complex (GO:0046930)	identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			large_intestine(1)|lung(1)|ovary(1)|skin(1)	4						ACCTGGTGGCAATCTTGGTGA	0.567																																						ENST00000374467.3																			0				large_intestine(1)|lung(1)|ovary(1)|skin(1)	4						c.(340-342)atT>atC		BCL2-antagonist/killer 1							170	133	145					6																	33543083		2203	4300	6503	SO:0001819	synonymous_variant	578				activation of pro-apoptotic gene products|cellular response to mechanical stimulus|cellular response to UV|establishment or maintenance of transmembrane electrochemical gradient|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|regulation of mitochondrial membrane permeability|regulation of mitochondrial membrane potential|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|release of cytochrome c from mitochondria	integral to mitochondrial outer membrane|pore complex	metal ion binding|protein heterodimerization activity	g.chr6:33543083A>G	U23765	CCDS4781.1	6p21.31	2014-03-07			ENSG00000030110	ENSG00000030110			949	protein-coding gene	gene with protein product		600516		CDN1		7715730, 7715731	Standard	NM_001188		Approved	BCL2L7, BAK	uc003oes.3	Q16611	OTTHUMG00000014530	ENST00000374467.3:c.342T>C	6.37:g.33543083A>G						BAK1_ENST00000360661.5_Silent_p.I114I|BAK1_ENST00000442998.2_Silent_p.I114I	p.I114I	NM_001188.3	NP_001179.1	Q16611	BAK_HUMAN			4	590	-			114					C0H5Y7|Q6I9T6|Q92533	Silent	SNP	ENST00000374467.3	37	c.342T>C	CCDS4781.1																																																																																				0.567	BAK1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040202.1	NM_001188		12	19	0	0	0	1	0	12	19					G	33543083	A	G	33543083	2	3	435	1	0	0	0	0	0	0	0	1	1305	126	5	4		4	BAK1	6	33543083	Silent	SNP	A	TCGA-XK-AAIW-01A-11D-A41K-08	119450	33543083	137571984	3126	24051											
ITPR3	3710	broad.mit.edu	37	chr6	33639817	33639817	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cctccacaggcaagaatgtgCggcggtccatccagggcgtg	8	6	14	13	3	0	1	0	0	0	1	3	1	3	1	4	4	1	1	4	4	2	0	rs566710188		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:33639817C>T	ENST00000374316.5	+	23	3800	c.2740C>T	c.(2740-2742)Cgg>Tgg	p.R914W	ITPR3_ENST00000605930.1_Missense_Mutation_p.R914W			Q14573	ITPR3_HUMAN	inositol 1,4,5-trisphosphate receptor, type 3	914					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|calcium ion transport into cytosol (GO:0060402)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|long-term synaptic potentiation (GO:0060291)|memory (GO:0007613)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|response to calcium ion (GO:0051592)|sensory perception of bitter taste (GO:0050913)|sensory perception of sweet taste (GO:0050916)|sensory perception of umami taste (GO:0050917)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	apical part of cell (GO:0045177)|brush border (GO:0005903)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|myelin sheath (GO:0043209)|neuronal cell body (GO:0043025)|nuclear outer membrane (GO:0005640)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|receptor complex (GO:0043235)	inositol 1,3,4,5 tetrakisphosphate binding (GO:0043533)|inositol 1,4,5 trisphosphate binding (GO:0070679)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|inositol hexakisphosphate binding (GO:0000822)|intracellular ligand-gated calcium channel activity (GO:0005218)|phosphatidylinositol binding (GO:0035091)			NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85					Caffeine(DB00201)	CAAGAATGTGCGGCGGTCCAT	0.632																																						ENST00000374316.5																			0				NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85						c.(2740-2742)Cgg>Tgg		inositol 1,4,5-trisphosphate receptor, type 3							72	67	68					6																	33639817		2203	4300	6503	SO:0001583	missense	3710				activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion	apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane	inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding	g.chr6:33639817C>T	D26351	CCDS4783.1	6p21.31	2011-11-24	2011-04-28		ENSG00000096433	ENSG00000096433		"Ion channels / Inositol triphosphate receptors"	6182	protein-coding gene	gene with protein product		147267	"inositol 1,4,5-triphosphate receptor, type 3"			8081734, 8288584	Standard	NM_002224		Approved	IP3R3	uc021ywr.1	Q14573	OTTHUMG00000014532	ENST00000374316.5:c.2740C>T	6.37:g.33639817C>T	ENSP00000363435:p.Arg914Trp					ITPR3_ENST00000605930.1_Missense_Mutation_p.R914W	p.R914W			Q14573	ITPR3_HUMAN			23	3800	+			914					Q14649|Q5TAQ2	Missense_Mutation	SNP	ENST00000374316.5	37	c.2740C>T	CCDS4783.1	.	.	.	.	.	.	.	.	.	.	C	17.41	3.381969	0.61845	.	.	ENSG00000096433	ENST00000374316	D	0.91945	-2.94	5.46	3.62	0.41486	.	0.055265	0.64402	D	0.000001	D	0.90463	0.7013	L	0.57536	1.79	0.40534	D	0.980956	D	0.71674	0.998	P	0.53146	0.719	D	0.89693	0.3899	10	0.52906	T	0.07	-40.2109	14.1014	0.65059	0.5141:0.4859:0.0:0.0	.	914	Q14573	ITPR3_HUMAN	W	914	ENSP00000363435:R914W	ENSP00000363435:R914W	R	+	1	2	ITPR3	33747795	0.996000	0.38824	1.000000	0.80357	0.815000	0.46073	1.929000	0.40114	0.626000	0.30322	-0.182000	0.12963	CGG		0.632	ITPR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040204.2	NM_002224		11	27	0	0	0	1	0	11	27					T	33639817	C	T	33639817	3	4	435	1	0	0	0	0	1	0	0	0	7922	759	27	1	2826	1	ITPR3	6	33639817	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	96734	33639817	137475250	3127	24052											
ITPR3	3710	broad.mit.edu	37	chr6	33653961	33653961	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctctacatcaatgaggacaaCgtgggcctcgtcatccagac	11	8	9	13	2	3	2	2	1	1	1	5	3	4	3	2	2	2	0	2	2	3	1	rs149221361		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:33653961C>T	ENST00000374316.5	+	43	6859	c.5799C>T	c.(5797-5799)aaC>aaT	p.N1933N	ITPR3_ENST00000605930.1_Silent_p.N1933N			Q14573	ITPR3_HUMAN	inositol 1,4,5-trisphosphate receptor, type 3	1933					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|calcium ion transport into cytosol (GO:0060402)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|long-term synaptic potentiation (GO:0060291)|memory (GO:0007613)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|response to calcium ion (GO:0051592)|sensory perception of bitter taste (GO:0050913)|sensory perception of sweet taste (GO:0050916)|sensory perception of umami taste (GO:0050917)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	apical part of cell (GO:0045177)|brush border (GO:0005903)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|myelin sheath (GO:0043209)|neuronal cell body (GO:0043025)|nuclear outer membrane (GO:0005640)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|receptor complex (GO:0043235)	inositol 1,3,4,5 tetrakisphosphate binding (GO:0043533)|inositol 1,4,5 trisphosphate binding (GO:0070679)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|inositol hexakisphosphate binding (GO:0000822)|intracellular ligand-gated calcium channel activity (GO:0005218)|phosphatidylinositol binding (GO:0035091)			NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85					Caffeine(DB00201)	ATGAGGACAACGTGGGCCTCG	0.607																																						ENST00000374316.5																			0				NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85						c.(5797-5799)aaC>aaT		inositol 1,4,5-trisphosphate receptor, type 3		C		0,4406		0,0,2203	61	52	55		5799	-3.5	0.9	6	dbSNP_134	55	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	ITPR3	NM_002224.3		0,2,6501	TT,TC,CC		0.0233,0.0,0.0154		1933/2672	33653961	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	3710				activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion	apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane	inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding	g.chr6:33653961C>T	D26351	CCDS4783.1	6p21.31	2011-11-24	2011-04-28		ENSG00000096433	ENSG00000096433		"Ion channels / Inositol triphosphate receptors"	6182	protein-coding gene	gene with protein product		147267	"inositol 1,4,5-triphosphate receptor, type 3"			8081734, 8288584	Standard	NM_002224		Approved	IP3R3	uc021ywr.1	Q14573	OTTHUMG00000014532	ENST00000374316.5:c.5799C>T	6.37:g.33653961C>T						ITPR3_ENST00000605930.1_Silent_p.N1933N	p.N1933N			Q14573	ITPR3_HUMAN			43	6859	+			1933					Q14649|Q5TAQ2	Silent	SNP	ENST00000374316.5	37	c.5799C>T	CCDS4783.1																																																																																				0.607	ITPR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040204.2	NM_002224		4	15	0	0	0	1	0	4	15					T	33653961	C	T	33653961	2	4	435	1	0	0	0	0	0	0	0	1	7922	535	19	1		1	ITPR3	6	33653961	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	14144	33653961	137461106	3128	24053											
ITPR3	3710	broad.mit.edu	37	chr6	33656035	33656035	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gattgtgcggcaggaccgcaGcatggagcagatcgtgttcc	8	8	15	10	3	0	1	0	0	0	1	2	4	1	3	2	3	3	5	2	3	0	2	rs375661820		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:33656035G>T	ENST00000374316.5	+	49	7455	c.6395G>T	c.(6394-6396)aGc>aTc	p.S2132I	ITPR3_ENST00000605930.1_Missense_Mutation_p.S2132I			Q14573	ITPR3_HUMAN	inositol 1,4,5-trisphosphate receptor, type 3	2132					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|calcium ion transport into cytosol (GO:0060402)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|long-term synaptic potentiation (GO:0060291)|memory (GO:0007613)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|response to calcium ion (GO:0051592)|sensory perception of bitter taste (GO:0050913)|sensory perception of sweet taste (GO:0050916)|sensory perception of umami taste (GO:0050917)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	apical part of cell (GO:0045177)|brush border (GO:0005903)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|myelin sheath (GO:0043209)|neuronal cell body (GO:0043025)|nuclear outer membrane (GO:0005640)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|receptor complex (GO:0043235)	inositol 1,3,4,5 tetrakisphosphate binding (GO:0043533)|inositol 1,4,5 trisphosphate binding (GO:0070679)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|inositol hexakisphosphate binding (GO:0000822)|intracellular ligand-gated calcium channel activity (GO:0005218)|phosphatidylinositol binding (GO:0035091)			NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85					Caffeine(DB00201)	CAGGACCGCAGCATGGAGCAG	0.657																																						ENST00000374316.5																			0				NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85						c.(6394-6396)aGc>aTc		inositol 1,4,5-trisphosphate receptor, type 3							116	101	106					6																	33656035		2203	4300	6503	SO:0001583	missense	3710				activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion	apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane	inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding	g.chr6:33656035G>T	D26351	CCDS4783.1	6p21.31	2011-11-24	2011-04-28		ENSG00000096433	ENSG00000096433		"Ion channels / Inositol triphosphate receptors"	6182	protein-coding gene	gene with protein product		147267	"inositol 1,4,5-triphosphate receptor, type 3"			8081734, 8288584	Standard	NM_002224		Approved	IP3R3	uc021ywr.1	Q14573	OTTHUMG00000014532	ENST00000374316.5:c.6395G>T	6.37:g.33656035G>T	ENSP00000363435:p.Ser2132Ile					ITPR3_ENST00000605930.1_Missense_Mutation_p.S2132I	p.S2132I			Q14573	ITPR3_HUMAN			49	7455	+			2132					Q14649|Q5TAQ2	Missense_Mutation	SNP	ENST00000374316.5	37	c.6395G>T	CCDS4783.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.146453	0.77888	.	.	ENSG00000096433	ENST00000374316	D	0.91792	-2.91	5.53	3.72	0.42706	.	0.089695	0.85682	D	0.000000	D	0.88123	0.6352	L	0.50333	1.59	0.50813	D	0.999894	P;D	0.61080	0.923;0.989	P;P	0.50440	0.641;0.543	D	0.88773	0.3265	10	0.87932	D	0	-44.8034	9.2961	0.37815	0.0729:0.2766:0.6505:0.0	.	2132;1802	Q14573;Q59ES2	ITPR3_HUMAN;.	I	2132	ENSP00000363435:S2132I	ENSP00000363435:S2132I	S	+	2	0	ITPR3	33764013	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.598000	0.61069	1.308000	0.44962	0.650000	0.86243	AGC		0.657	ITPR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040204.2	NM_002224		22	30	1	0	5.35356e-11	1	5.74024e-11	22	30					T	33656035	G	T	33656035	3	4	435	1	0	0	0	0	1	0	0	0	7922	971	34	5	6585	5	ITPR3	6	33656035	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	2074	33656035	137459032	3129	24054											
IP6K3	117283	broad.mit.edu	37	chr6	33694579	33694579	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggtggcattgcaggccccacGggttgaagctcttcctctca	6	10	12	13	1	2	1	1	1	2	0	4	1	3	1	3	4	2	4	3	4	1	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:33694579G>A	ENST00000293756.4	-	4	844	c.518C>T	c.(517-519)cCg>cTg	p.P173L	IP6K3_ENST00000451316.1_Missense_Mutation_p.P173L	NM_054111.4	NP_473452.2	Q96PC2	IP6K3_HUMAN	inositol hexakisphosphate kinase 3	173					inositol phosphate biosynthetic process (GO:0032958)|inositol phosphate metabolic process (GO:0043647)|phosphatidylinositol metabolic process (GO:0046488)|protein phosphorylation (GO:0006468)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|inositol hexakisphosphate 1-kinase activity (GO:0052723)|inositol hexakisphosphate 3-kinase activity (GO:0052724)|inositol hexakisphosphate 5-kinase activity (GO:0000832)|inositol hexakisphosphate 6-kinase activity (GO:0000831)|inositol-1,4,5-trisphosphate 3-kinase activity (GO:0008440)			skin(1)	1						CAGGCCCCACGGGTTGAAGCT	0.607																																						ENST00000451316.1																			0				skin(1)	1						c.(517-519)cCg>cTg		inositol hexakisphosphate kinase 3							96	85	89					6																	33694579		2203	4300	6503	SO:0001583	missense	117283				inositol phosphate biosynthetic process|phosphatidylinositol metabolic process|protein phosphorylation	cytoplasm	ATP binding|inositol hexakisphosphate 5-kinase activity|inositol hexakisphosphate 6-kinase activity|inositol trisphosphate 3-kinase activity	g.chr6:33694579G>A	AF393812	CCDS34435.1	6p21.31	2009-01-05	2009-01-05	2008-12-22	ENSG00000161896	ENSG00000161896			17269	protein-coding gene	gene with protein product		606993	"inositol hexaphosphate kinase 3"	IHPK3		11502751	Standard	NM_054111		Approved	INSP6K3	uc003ofb.2	Q96PC2	OTTHUMG00000014531	ENST00000293756.4:c.518C>T	6.37:g.33694579G>A	ENSP00000293756:p.Pro173Leu					IP6K3_ENST00000293756.4_Missense_Mutation_p.P173L	p.P173L	NM_001142883.1	NP_001136355.1	Q96PC2	IP6K3_HUMAN			5	1053	-			173					Q96MQ9	Missense_Mutation	SNP	ENST00000293756.4	37	c.518C>T	CCDS34435.1	.	.	.	.	.	.	.	.	.	.	G	28.6	4.934873	0.92458	.	.	ENSG00000161896	ENST00000451316;ENST00000293756	T;T	0.25912	1.77;1.77	5.37	5.37	0.77165	.	0.087378	0.50627	D	0.000113	T	0.53932	0.1827	M	0.88181	2.935	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.63712	-0.6575	10	0.87932	D	0	-41.6327	19.0994	0.93268	0.0:0.0:1.0:0.0	.	173	Q96PC2	IP6K3_HUMAN	L	173	ENSP00000398861:P173L;ENSP00000293756:P173L	ENSP00000293756:P173L	P	-	2	0	IP6K3	33802557	1.000000	0.71417	0.962000	0.40283	0.785000	0.44390	9.192000	0.94947	2.529000	0.85273	0.561000	0.74099	CCG		0.607	IP6K3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040203.1	NM_054111		26	45	0	0	0	1	0	26	45					A	33694579	G	A	33694579	3	1	435	1	0	0	0	0	1	0	0	0	7790	1116	39	2	726	2	IP6K3	6	33694579	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	38544	33694579	137420488	3130	24055											
LEMD2	221496	broad.mit.edu	37	chr6	33744944	33744944	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tcttcaccatctcatacatgGcttgttcctcctcttctaac	7	16	3	15	0	5	0	2	0	4	0	8	0	7	0	3	1	2	2	3	1	2	6			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:33744944G>A	ENST00000293760.5	-	7	1248	c.1229C>T	c.(1228-1230)gCc>gTc	p.A410V	LEMD2_ENST00000508327.1_Missense_Mutation_p.A108V|LEMD2_ENST00000502643.1_5'UTR	NM_181336.3	NP_851853.1	Q8NC56	LEMD2_HUMAN	LEM domain containing 2	410					negative regulation of MAPK cascade (GO:0043409)|skeletal muscle cell differentiation (GO:0035914)	integral component of nuclear inner membrane (GO:0005639)|membrane (GO:0016020)|nuclear membrane (GO:0031965)				central_nervous_system(2)|endometrium(3)|large_intestine(1)|lung(2)|pancreas(1)	9						CTCATACATGGCTTGTTCCTC	0.498																																						ENST00000293760.5																			0				central_nervous_system(2)|endometrium(3)|large_intestine(1)|lung(2)|pancreas(1)	9						c.(1228-1230)gCc>gTc		LEM domain containing 2							219	233	229					6																	33744944		2203	4300	6503	SO:0001583	missense	221496					integral to nuclear inner membrane		g.chr6:33744944G>A		CCDS4785.1, CCDS47411.1	6p21.31	2009-11-06			ENSG00000161904	ENSG00000161904			21244	protein-coding gene	gene with protein product						12477932	Standard	NM_001143944		Approved	dJ482C21.1, NET25	uc011drm.2	Q8NC56	OTTHUMG00000014535	ENST00000293760.5:c.1229C>T	6.37:g.33744944G>A	ENSP00000293760:p.Ala410Val					LEMD2_ENST00000502643.1_5'UTR|LEMD2_ENST00000508327.1_Missense_Mutation_p.A108V	p.A410V	NM_181336.3	NP_851853.1	Q8NC56	LEMD2_HUMAN			7	1248	-			410					B4DVH5|E7EVT2|Q5T972|Q5T974	Missense_Mutation	SNP	ENST00000293760.5	37	c.1229C>T	CCDS4785.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	22.4|22.4	4.279065|4.279065	0.80692|0.80692	.|.	.|.	ENSG00000161904|ENSG00000161904	ENST00000293760;ENST00000508327|ENST00000442696	.|.	.|.	.|.	5.78|5.78	5.78|5.78	0.91487|0.91487	Inner nuclear membrane protein MAN1 (1);|.	0.000000|.	0.56097|.	D|.	0.000022|.	T|T	0.56046|0.56046	0.1959|0.1959	L|L	0.54323|0.54323	1.7|1.7	0.43021|0.43021	D|D	0.994575|0.994575	D;D|.	0.76494|.	0.999;0.995|.	D;D|.	0.79108|.	0.992;0.926|.	T|T	0.53394|0.53394	-0.8445|-0.8445	9|5	0.46703|.	T|.	0.11|.	-5.5741|-5.5741	14.8087|14.8087	0.69977|0.69977	0.0:0.0:0.856:0.144|0.0:0.0:0.856:0.144	.|.	410;371|.	Q8NC56;A8MS91|.	LEMD2_HUMAN;.|.	V|S	410;108|276	.|.	ENSP00000293760:A410V|.	A|P	-|-	2|1	0|0	LEMD2|LEMD2	33852922|33852922	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.808000|0.808000	0.45660|0.45660	4.598000|4.598000	0.61069|0.61069	2.724000|2.724000	0.93272|0.93272	0.563000|0.563000	0.77884|0.77884	GCC|CCA		0.498	LEMD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040209.3	XM_166338		18	270	0	0	0	1	0	18	270					A	33744944	G	A	33744944	3	1	435	1	0	0	0	0	1	0	0	0	8720	1203	42	3	294	3	LEMD2	6	33744944	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	50365	33744944	137370123	3131	24056											
RPS10	6204	broad.mit.edu	37	chr6	34392485	34392485	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agtctctggacggctacggcGtagggtggcaggcacaatct	8	8	15	10	3	2	0	0	0	2	0	3	1	2	1	0	6	1	4	0	6	3	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:34392485G>A	ENST00000326199.8	-	3	376	c.283C>T	c.(283-285)Cgc>Tgc	p.R95C	RPS10-NUDT3_ENST00000605528.1_Missense_Mutation_p.R95C|RPS10_ENST00000344700.3_Missense_Mutation_p.R95C|RPS10_ENST00000494077.1_5'UTR	NM_001014.4|NM_001203245.2|NM_001204091.1	NP_001005.1|NP_001190174.1|NP_001191020.1	P46783	RS10_HUMAN	ribosomal protein S10	95					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic small ribosomal subunit (GO:0022627)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleolus (GO:0005730)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(4)	9						CGGCTACGGCGTAGGGTGGCA	0.507																																					Colon(121;749 1624 4895 8687 22360)	ENST00000605528.1																			0											c.(283-285)Cgc>Tgc									26	29	28					6																	34392485		2203	4298	6501	SO:0001583	missense	0							g.chr6:34392485G>A	U14972	CCDS4792.1	6p21.31	2011-04-05			ENSG00000124614	ENSG00000124614		"S ribosomal proteins"	10383	protein-coding gene	gene with protein product		603632				7772601, 9582194	Standard	NM_001014		Approved	MGC88819, S10		P46783	OTTHUMG00000014546	ENST00000326199.8:c.283C>T	6.37:g.34392485G>A	ENSP00000347271:p.Arg95Cys					RPS10_ENST00000326199.8_Missense_Mutation_p.R95C|RPS10_ENST00000494077.1_5'UTR|RPS10_ENST00000344700.3_Missense_Mutation_p.R95C	p.R95C	NM_001202470.2	NP_001189399.1					3	299	-								B2R4E3|Q5TZC0	Missense_Mutation	SNP	ENST00000326199.8	37	c.283C>T	CCDS4792.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.976153	0.74360	.	.	ENSG00000124614	ENST00000326199;ENST00000344700	T;T	0.78003	-1.12;-1.14	5.19	5.19	0.71726	Plectin/S10, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.61726	0.2370	L	0.35341	1.055	0.80722	D	1	B	0.22604	0.072	B	0.22601	0.04	T	0.62530	-0.6835	10	0.54805	T	0.06	-8.4826	18.7885	0.91964	0.0:0.0:1.0:0.0	.	95	P46783	RS10_HUMAN	C	95	ENSP00000347271:R95C;ENSP00000363169:R95C	ENSP00000347271:R95C	R	-	1	0	RPS10	34500463	1.000000	0.71417	1.000000	0.80357	0.881000	0.50899	9.799000	0.99117	2.446000	0.82766	0.485000	0.47835	CGC		0.507	RPS10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040230.1			11	10	0	0	0	1	0	11	10					A	34392485	G	A	34392485	3	1	435	1	0	0	0	0	1	0	0	0	13620	1145	40	1	230	1	RPS10	6	34392485	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	647541	34392485	136722582	3132	24057											
UHRF1BP1	54887	broad.mit.edu	37	chr6	34824188	34824188	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctttcggagaaaagcaggTgggttatgaggaactggaag	12	9	15	5	1	1	2	0	1	1	1	2	5	1	4	0	5	2	2	0	5	5	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:34824188T>C	ENST00000192788.5	+	10	1462		c.e10+2		UHRF1BP1_ENST00000452449.2_Splice_Site	NM_017754.3	NP_060224.3	Q6BDS2	URFB1_HUMAN	UHRF1 binding protein 1								histone deacetylase binding (GO:0042826)|identical protein binding (GO:0042802)			breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(24)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	54						GAAAAGCAGGTGGGTTATGAG	0.453																																						ENST00000192788.5																			0				breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(24)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	54						c.e10+2		UHRF1 binding protein 1							87	88	88					6																	34824188		1881	4117	5998	SO:0001630	splice_region_variant	54887							g.chr6:34824188T>C	AB126777	CCDS43455.1	6p21.31	2008-10-28	2008-08-15	2007-11-27	ENSG00000065060	ENSG00000065060			21216	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 107"	C6orf107			Standard	NM_017754		Approved	FLJ20302, dJ349A12.1, ICBP90	uc003oju.4	Q6BDS2	OTTHUMG00000014557	ENST00000192788.5:c.1291+2T>C	6.37:g.34824188T>C						UHRF1BP1_ENST00000452449.2_Splice_Site		NM_017754.3	NP_060224.3	Q6BDS2	URFB1_HUMAN			10	1462	+								Q9NXE0	Splice_Site	SNP	ENST00000192788.5	37		CCDS43455.1	.	.	.	.	.	.	.	.	.	.	T	13.57	2.275982	0.40294	.	.	ENSG00000065060	ENST00000192788;ENST00000452449	.	.	.	5.88	3.45	0.39498	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.1928	0.37209	0.0:0.1428:0.0:0.8572	.	.	.	.	.	-1	.	.	.	+	.	.	UHRF1BP1	34932166	0.993000	0.37304	0.855000	0.33649	0.414000	0.31173	2.299000	0.43611	0.464000	0.27142	0.482000	0.46254	.		0.453	UHRF1BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040260.1	NM_017754	Intron	20	29	0	0	0	1	0	20	29					C	34824188	T	C	34824188	5	2	435	1	0	0	0	0	0	0	1	0	16965	1710	59	4	1331	4	UHRF1BP1	6	34824188	Splice_Site	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	431703	34824188	136290879	3133	24058											
ANKS1A	23294	broad.mit.edu	37	chr6	35051201	35051201	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttgtttcctgtagaaatctaCggagcacatgaagaagatcc	13	11	9	8	1	1	4	0	1	1	3	3	5	3	5	2	1	2	3	2	1	5	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:35051201C>T	ENST00000360359.3	+	20	3053	c.2915C>T	c.(2914-2916)aCg>aTg	p.T972M	ANKS1A_ENST00000535627.1_Intron	NM_015245.2	NP_056060.2	Q92625	ANS1A_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1A	972	PID. {ECO:0000255|PROSITE- ProRule:PRU00148}.				ephrin receptor signaling pathway (GO:0048013)|neuron remodeling (GO:0016322)|substrate-dependent cell migration (GO:0006929)	cytoplasm (GO:0005737)|neuron projection (GO:0043005)|nucleus (GO:0005634)				cervix(2)|endometrium(3)|large_intestine(4)|lung(16)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						TAGAAATCTACGGAGCACATG	0.532																																						ENST00000360359.3																			0				cervix(2)|endometrium(3)|large_intestine(4)|lung(16)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						c.(2914-2916)aCg>aTg		ankyrin repeat and sterile alpha motif domain containing 1A							182	153	163					6																	35051201		2203	4300	6503	SO:0001583	missense	23294					cytoplasm	protein binding	g.chr6:35051201C>T	D86982	CCDS4798.1	6p21.31	2013-01-10	2006-02-17	2006-02-17	ENSG00000064999	ENSG00000064999		"Sterile alpha motif (SAM) domain containing", "Ankyrin repeat domain containing"	20961	protein-coding gene	gene with protein product		608994	"ankyrin repeat and SAM domain containing 1", "ankyrin repeat and sterile alpha motif domain containing 1"	ANKS1		9039502	Standard	NM_015245		Approved	KIAA0229	uc003ojx.4	Q92625	OTTHUMG00000014559	ENST00000360359.3:c.2915C>T	6.37:g.35051201C>T	ENSP00000353518:p.Thr972Met					ANKS1A_ENST00000535627.1_Intron	p.T972M	NM_015245.2	NP_056060.2	Q92625	ANS1A_HUMAN			20	3053	+			972			PID.		A2RUC1|B4DQW8|Q5JYI9|Q5SYR2|Q86WQ7	Missense_Mutation	SNP	ENST00000360359.3	37	c.2915C>T	CCDS4798.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.200667	0.79015	.	.	ENSG00000064999	ENST00000360359;ENST00000373990	T	0.20738	2.05	4.76	4.76	0.60689	Phosphotyrosine interaction domain (3);Pleckstrin homology-type (1);	0.000000	0.47852	D	0.000218	T	0.38453	0.1041	M	0.65498	2.005	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.996;0.985;1.0	T	0.36648	-0.9739	10	0.87932	D	0	-15.847	17.7722	0.88496	0.0:1.0:0.0:0.0	.	298;298;972	Q49AR9;E7EM84;Q92625	.;.;ANS1A_HUMAN	M	972;298	ENSP00000353518:T972M	ENSP00000353518:T972M	T	+	2	0	ANKS1A	35159179	1.000000	0.71417	0.894000	0.35097	0.675000	0.39556	5.934000	0.70138	2.194000	0.70268	0.655000	0.94253	ACG		0.532	ANKS1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040262.1	XM_166478		14	56	0	0	0	1	0	14	56					T	35051201	C	T	35051201	3	4	435	1	0	0	0	0	1	0	0	0	688	536	19	1	2993	1	ANKS1A	6	35051201	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	227013	35051201	136063866	3134	24059											
SCUBE3	222663	broad.mit.edu	37	chr6	35205730	35205730	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cagtaagtgccatgatgcagCgactggtgtccactgcacct	9	9	11	12	1	0	1	0	1	0	0	1	2	1	1	3	1	4	3	3	1	1	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:35205730C>T	ENST00000274938.7	+	7	764	c.764C>T	c.(763-765)gCg>gTg	p.A255V	SCUBE3_ENST00000394681.1_Missense_Mutation_p.A271V	NM_152753.2	NP_689966.2			signal peptide, CUB domain, EGF-like 3											breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(12)|lung(11)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	37						CATGATGCAGCGACTGGTGTC	0.552																																						ENST00000274938.7																			0				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(12)|lung(11)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	37						c.(763-765)gCg>gTg		signal peptide, CUB domain, EGF-like 3							125	104	111					6																	35205730		2203	4300	6503	SO:0001583	missense	222663				protein heterooligomerization|protein homooligomerization	cell surface|extracellular region	calcium ion binding|protein binding	g.chr6:35205730C>T	AF452494.1	CCDS4800.1	6p21.3	2008-02-05	2004-05-19	2004-05-21		ENSG00000146197			13655	protein-coding gene	gene with protein product		614708	"CUB domain and EGF-like repeat containing 3"	CEGF3		12270931	Standard	NM_152753		Approved	FLJ34743	uc003okf.1	Q8IX30		ENST00000274938.7:c.764C>T	6.37:g.35205730C>T	ENSP00000274938:p.Ala255Val					SCUBE3_ENST00000394681.1_Missense_Mutation_p.A271V	p.A255V	NM_152753.2	NP_689966.2	Q8IX30	SCUB3_HUMAN			7	764	+			255			EGF-like 6.			Missense_Mutation	SNP	ENST00000274938.7	37	c.764C>T	CCDS4800.1	.	.	.	.	.	.	.	.	.	.	C	15.74	2.923275	0.52653	.	.	ENSG00000146197	ENST00000394681;ENST00000274938	D;D	0.96265	-3.96;-3.96	5.38	5.38	0.77491	Epidermal growth factor-like (1);	0.064498	0.64402	D	0.000007	D	0.84356	0.5454	N	0.04768	-0.165	0.47778	D	0.999519	B;B	0.21821	0.061;0.029	B;B	0.16289	0.015;0.005	T	0.82686	-0.0334	10	0.07813	T	0.8	.	19.1344	0.93420	0.0:1.0:0.0:0.0	.	271;255	Q8IX30-2;Q8IX30	.;SCUB3_HUMAN	V	271;255	ENSP00000378174:A271V;ENSP00000274938:A255V	ENSP00000274938:A255V	A	+	2	0	SCUBE3	35313708	0.997000	0.39634	0.944000	0.38274	0.939000	0.58152	3.768000	0.55295	2.523000	0.85059	0.491000	0.48974	GCG		0.552	SCUBE3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040275.1	NM_152753		21	43	0	0	0	1	0	21	43					T	35205730	C	T	35205730	3	4	435	1	0	0	0	0	1	0	0	0	13946	768	27	1	790	1	SCUBE3	6	35205730	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	154529	35205730	135909337	3135	24060											
SCUBE3	222663	broad.mit.edu	37	chr6	35212573	35212573	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actttgatggctctaccagtGtggcccaatgcaagagtacg	10	10	11	10	1	1	2	0	1	1	1	1	2	1	2	2	2	3	3	2	2	4	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:35212573G>A	ENST00000274938.7	+	18	2386	c.2386G>A	c.(2386-2388)Gtg>Atg	p.V796M	SCUBE3_ENST00000394681.1_Missense_Mutation_p.V812M	NM_152753.2	NP_689966.2			signal peptide, CUB domain, EGF-like 3											breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(12)|lung(11)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	37						CTCTACCAGTGTGGCCCAATG	0.557																																						ENST00000274938.7																			0				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(12)|lung(11)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	37						c.(2386-2388)Gtg>Atg		signal peptide, CUB domain, EGF-like 3							127	120	122					6																	35212573		2203	4300	6503	SO:0001583	missense	222663				protein heterooligomerization|protein homooligomerization	cell surface|extracellular region	calcium ion binding|protein binding	g.chr6:35212573G>A	AF452494.1	CCDS4800.1	6p21.3	2008-02-05	2004-05-19	2004-05-21		ENSG00000146197			13655	protein-coding gene	gene with protein product		614708	"CUB domain and EGF-like repeat containing 3"	CEGF3		12270931	Standard	NM_152753		Approved	FLJ34743	uc003okf.1	Q8IX30		ENST00000274938.7:c.2386G>A	6.37:g.35212573G>A	ENSP00000274938:p.Val796Met					SCUBE3_ENST00000394681.1_Missense_Mutation_p.V812M	p.V796M	NM_152753.2	NP_689966.2	Q8IX30	SCUB3_HUMAN			18	2386	+			796						Missense_Mutation	SNP	ENST00000274938.7	37	c.2386G>A	CCDS4800.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.281186	0.80692	.	.	ENSG00000146197	ENST00000394681;ENST00000274938	T;T	0.15952	2.38;2.38	5.48	4.59	0.56863	Tyrosine-protein kinase ephrin type A/B receptor-like (1);	0.000000	0.85682	D	0.000000	T	0.34629	0.0904	M	0.79475	2.455	0.50039	D	0.999844	D;D	0.89917	1.0;1.0	D;D	0.91635	0.997;0.999	T	0.36089	-0.9762	10	0.66056	D	0.02	.	16.3553	0.83233	0.0:0.1323:0.8677:0.0	.	812;796	Q8IX30-2;Q8IX30	.;SCUB3_HUMAN	M	812;796	ENSP00000378174:V812M;ENSP00000274938:V796M	ENSP00000274938:V796M	V	+	1	0	SCUBE3	35320551	1.000000	0.71417	0.998000	0.56505	0.986000	0.74619	6.700000	0.74619	1.386000	0.46466	0.655000	0.94253	GTG		0.557	SCUBE3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040275.1	NM_152753		38	57	0	0	0	1	0	38	57					A	35212573	G	A	35212573	3	1	435	1	0	0	0	0	1	0	0	0	13946	1377	48	3	2456	3	SCUBE3	6	35212573	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	6843	35212573	135902494	3136	24061											
ZNF76	7629	broad.mit.edu	37	chr6	35261620	35261620	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accctcaccatccccagtccTgatgccgacctggccacatc	8	7	6	20	1	1	1	1	1	0	0	4	2	3	1	8	1	1	0	8	1	0	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:35261620T>C	ENST00000373953.3	+	12	1688	c.1422T>C	c.(1420-1422)ccT>ccC	p.P474P	ZNF76_ENST00000339411.5_Intron|ZNF76_ENST00000440666.2_Silent_p.P448P	NM_003427.3	NP_003418.2	P36508	ZNF76_HUMAN	zinc finger protein 76	474					regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)	16						TCCCCAGTCCTGATGCCGACC	0.632																																					Esophageal Squamous(52;92 1039 20612 23956 34676)	ENST00000373953.3																			0				breast(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)	16						c.(1420-1422)ccT>ccC		zinc finger protein 76							109	95	100					6																	35261620		2203	4300	6503	SO:0001819	synonymous_variant	7629				regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:35261620T>C	M91592	CCDS4801.1, CCDS75435.1	6p21.31	2013-01-08	2011-02-25		ENSG00000065029	ENSG00000065029		"Zinc fingers, C2H2-type"	13149	protein-coding gene	gene with protein product		194549	"zinc finger protein 76 (expressed in testis)"	D6S229E		1427894	Standard	XM_005249364		Approved	Zfp523, ZNF523	uc003oki.1	P36508	OTTHUMG00000014564	ENST00000373953.3:c.1422T>C	6.37:g.35261620T>C						ZNF76_ENST00000440666.2_Silent_p.P448P|ZNF76_ENST00000339411.5_Intron	p.P474P	NM_003427.3	NP_003418.2	P36508	ZNF76_HUMAN			12	1688	+			474					Q9BQB2	Silent	SNP	ENST00000373953.3	37	c.1422T>C	CCDS4801.1	.	.	.	.	.	.	.	.	.	.	T	2.427	-0.331835	0.05314	.	.	ENSG00000065029	ENST00000498555	.	.	.	5.26	-1.28	0.09318	.	.	.	.	.	T	0.11665	0.0284	.	.	.	0.28171	N	0.928581	.	.	.	.	.	.	T	0.30966	-0.9960	4	.	.	.	.	5.1647	0.15079	0.0:0.342:0.1663:0.4918	.	.	.	.	P	7	.	.	L	+	2	0	ZNF76	35369598	0.085000	0.21516	0.012000	0.15200	0.259000	0.26198	-0.279000	0.08479	-0.352000	0.08237	0.528000	0.53228	CTG		0.632	ZNF76-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040279.2	NM_003427		14	22	0	0	0	1	0	14	22					C	35261620	T	C	35261620	2	2	435	1	0	0	0	0	0	0	0	1	18132	1567	55	4		4	ZNF76	6	35261620	Silent	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	49047	35261620	135853447	3137	24062											
PPARD	5467	broad.mit.edu	37	chr6	35389649	35389649	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggagtacgagaagtgtgagcGcagctgcaagattcagaaga	14	6	15	6	2	1	5	1	1	0	4	1	7	1	6	0	1	4	4	0	1	4	2	rs200111529		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:35389649G>A	ENST00000311565.4	+	6	687	c.338G>A	c.(337-339)cGc>cAc	p.R113H	PPARD_ENST00000418635.2_Intron|PPARD_ENST00000360694.3_Missense_Mutation_p.R113H|PPARD_ENST00000448077.2_Missense_Mutation_p.R74H|PPARD_ENST00000540939.1_Missense_Mutation_p.R10H|PPARD_ENST00000337400.2_Missense_Mutation_p.R113H|PPARD_ENST00000444397.1_Missense_Mutation_p.R113H	NM_001171818.1	NP_001165289.1	Q03181	PPARD_HUMAN	peroxisome proliferator-activated receptor delta	113					adipose tissue development (GO:0060612)|anagen (GO:0042640)|apoptotic signaling pathway (GO:0097190)|axon ensheathment (GO:0008366)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cell-substrate adhesion (GO:0031589)|cellular response to hypoxia (GO:0071456)|cholesterol metabolic process (GO:0008203)|decidualization (GO:0046697)|embryo implantation (GO:0007566)|fatty acid beta-oxidation (GO:0006635)|fatty acid catabolic process (GO:0009062)|fatty acid transport (GO:0015908)|gene expression (GO:0010467)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glucose transport (GO:0015758)|heart development (GO:0007507)|intracellular receptor signaling pathway (GO:0030522)|keratinocyte migration (GO:0051546)|keratinocyte proliferation (GO:0043616)|lipid metabolic process (GO:0006629)|mRNA transcription (GO:0009299)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of collagen biosynthetic process (GO:0032966)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of inflammatory response (GO:0050728)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of smooth muscle cell proliferation (GO:0048662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|phospholipid biosynthetic process (GO:0008654)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epidermis development (GO:0045684)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of insulin secretion (GO:0032024)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of vasodilation (GO:0045909)|proteoglycan metabolic process (GO:0006029)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to activity (GO:0014823)|response to glucose (GO:0009749)|response to vitamin A (GO:0033189)|transcription initiation from RNA polymerase II promoter (GO:0006367)|vitamin A metabolic process (GO:0006776)|wound healing (GO:0042060)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|drug binding (GO:0008144)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|linoleic acid binding (GO:0070539)|lipid binding (GO:0008289)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(1)|endometrium(1)|large_intestine(4)|liver(2)|lung(9)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23					Bezafibrate(DB01393)|Icosapent(DB00159)|Sulindac(DB00605)|Treprostinil(DB00374)	AAGTGTGAGCGCAGCTGCAAG	0.567																																						ENST00000311565.4																			0				autonomic_ganglia(1)|breast(1)|endometrium(1)|large_intestine(4)|liver(2)|lung(9)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23						c.(337-339)cGc>cAc		peroxisome proliferator-activated receptor delta	Icosapent(DB00159)|Sulindac(DB00605)|Treprostinil(DB00374)						95	84	88					6																	35389649		2203	4300	6503	SO:0001583	missense	5467				apoptosis|axon ensheathment|cholesterol metabolic process|decidualization|embryo implantation|fatty acid beta-oxidation|fatty acid transport|generation of precursor metabolites and energy|glucose metabolic process|glucose transport|negative regulation of transcription from RNA polymerase II promoter|positive regulation of fat cell differentiation|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	drug binding|linoleic acid binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	g.chr6:35389649G>A	L07592	CCDS4803.1, CCDS4804.1, CCDS54994.1, CCDS54995.1	6p21.2	2013-01-16	2006-10-17		ENSG00000112033	ENSG00000112033		"Nuclear hormone receptors"	9235	protein-coding gene	gene with protein product		600409	"peroxisome proliferative activated receptor, delta"			1333051	Standard	NM_177435		Approved	NUC1, NUCII, FAAR, NR1C2	uc003okm.3	Q03181	OTTHUMG00000014567	ENST00000311565.4:c.338G>A	6.37:g.35389649G>A	ENSP00000310928:p.Arg113His					PPARD_ENST00000337400.2_Missense_Mutation_p.R113H|PPARD_ENST00000540939.1_Missense_Mutation_p.R10H|PPARD_ENST00000418635.2_Intron|PPARD_ENST00000448077.2_Missense_Mutation_p.R74H|PPARD_ENST00000444397.1_Missense_Mutation_p.R113H|PPARD_ENST00000360694.3_Missense_Mutation_p.R113H	p.R113H	NM_001171818.1	NP_001165289.1	Q03181	PPARD_HUMAN			6	687	+			113					A8K6J6|B4E3V3|B6ZGS1|B7Z3W1|E9PE18|Q5D1P0|Q7Z5K0|Q9BUD4	Missense_Mutation	SNP	ENST00000311565.4	37	c.338G>A	CCDS4803.1	.	.	.	.	.	.	.	.	.	.	G	18.26	3.585606	0.66105	.	.	ENSG00000112033	ENST00000448077;ENST00000360694;ENST00000444397;ENST00000311565;ENST00000337400;ENST00000540939	D;D;D;D;D;D	0.96396	-4.0;-4.0;-4.0;-4.0;-4.0;-4.0	4.5	4.5	0.54988	Zinc finger, NHR/GATA-type (1);Zinc finger, nuclear hormone receptor-type (3);	0.000000	0.85682	D	0.000000	D	0.97501	0.9182	M	0.78801	2.425	0.80722	D	1	B;B;D	0.76494	0.309;0.314;0.999	B;B;D	0.64877	0.084;0.086;0.93	D	0.97415	1.0005	10	0.51188	T	0.08	.	17.3997	0.87456	0.0:0.0:1.0:0.0	.	74;113;113	B7Z3W1;Q03181;F1D8S7	.;PPARD_HUMAN;.	H	74;113;113;113;113;10	ENSP00000414372:R74H;ENSP00000353916:R113H;ENSP00000410837:R113H;ENSP00000310928:R113H;ENSP00000337063:R113H;ENSP00000443759:R10H	ENSP00000310928:R113H	R	+	2	0	PPARD	35497627	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.660000	0.83776	2.325000	0.78763	0.561000	0.74099	CGC		0.567	PPARD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040288.1	NM_006238		17	19	0	0	0	1	0	17	19					A	35389649	G	A	35389649	3	1	435	1	0	0	0	0	1	0	0	0	12298	1087	38	1	365	1	PPARD	6	35389649	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	128029	35389649	135725418	3138	24063											
PPARD	5467	broad.mit.edu	37	chr6	35392446	35392446	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cctgcgcagcctccgcaaacCcttcagtgatatcattgagc	9	9	8	15	2	2	2	2	2	0	0	3	2	3	2	4	0	4	2	4	0	2	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:35392446C>T	ENST00000311565.4	+	8	1317	c.968C>T	c.(967-969)cCc>cTc	p.P323L	PPARD_ENST00000418635.2_Missense_Mutation_p.P225L|PPARD_ENST00000360694.3_Missense_Mutation_p.P323L|PPARD_ENST00000448077.2_Missense_Mutation_p.P284L|PPARD_ENST00000540939.1_Missense_Mutation_p.P220L|PPARD_ENST00000337400.2_Missense_Mutation_p.P323L|PPARD_ENST00000444397.1_Missense_Mutation_p.P323L	NM_001171818.1	NP_001165289.1	Q03181	PPARD_HUMAN	peroxisome proliferator-activated receptor delta	323	Ligand-binding.				adipose tissue development (GO:0060612)|anagen (GO:0042640)|apoptotic signaling pathway (GO:0097190)|axon ensheathment (GO:0008366)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cell-substrate adhesion (GO:0031589)|cellular response to hypoxia (GO:0071456)|cholesterol metabolic process (GO:0008203)|decidualization (GO:0046697)|embryo implantation (GO:0007566)|fatty acid beta-oxidation (GO:0006635)|fatty acid catabolic process (GO:0009062)|fatty acid transport (GO:0015908)|gene expression (GO:0010467)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glucose transport (GO:0015758)|heart development (GO:0007507)|intracellular receptor signaling pathway (GO:0030522)|keratinocyte migration (GO:0051546)|keratinocyte proliferation (GO:0043616)|lipid metabolic process (GO:0006629)|mRNA transcription (GO:0009299)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of collagen biosynthetic process (GO:0032966)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of inflammatory response (GO:0050728)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of smooth muscle cell proliferation (GO:0048662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|phospholipid biosynthetic process (GO:0008654)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epidermis development (GO:0045684)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of insulin secretion (GO:0032024)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of vasodilation (GO:0045909)|proteoglycan metabolic process (GO:0006029)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to activity (GO:0014823)|response to glucose (GO:0009749)|response to vitamin A (GO:0033189)|transcription initiation from RNA polymerase II promoter (GO:0006367)|vitamin A metabolic process (GO:0006776)|wound healing (GO:0042060)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|drug binding (GO:0008144)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|linoleic acid binding (GO:0070539)|lipid binding (GO:0008289)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(1)|endometrium(1)|large_intestine(4)|liver(2)|lung(9)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23					Bezafibrate(DB01393)|Icosapent(DB00159)|Sulindac(DB00605)|Treprostinil(DB00374)	CTCCGCAAACCCTTCAGTGAT	0.527																																						ENST00000311565.4																			0				autonomic_ganglia(1)|breast(1)|endometrium(1)|large_intestine(4)|liver(2)|lung(9)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23						c.(967-969)cCc>cTc		peroxisome proliferator-activated receptor delta	Icosapent(DB00159)|Sulindac(DB00605)|Treprostinil(DB00374)						69	65	66					6																	35392446		2203	4300	6503	SO:0001583	missense	5467				apoptosis|axon ensheathment|cholesterol metabolic process|decidualization|embryo implantation|fatty acid beta-oxidation|fatty acid transport|generation of precursor metabolites and energy|glucose metabolic process|glucose transport|negative regulation of transcription from RNA polymerase II promoter|positive regulation of fat cell differentiation|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	drug binding|linoleic acid binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	g.chr6:35392446C>T	L07592	CCDS4803.1, CCDS4804.1, CCDS54994.1, CCDS54995.1	6p21.2	2013-01-16	2006-10-17		ENSG00000112033	ENSG00000112033		"Nuclear hormone receptors"	9235	protein-coding gene	gene with protein product		600409	"peroxisome proliferative activated receptor, delta"			1333051	Standard	NM_177435		Approved	NUC1, NUCII, FAAR, NR1C2	uc003okm.3	Q03181	OTTHUMG00000014567	ENST00000311565.4:c.968C>T	6.37:g.35392446C>T	ENSP00000310928:p.Pro323Leu					PPARD_ENST00000337400.2_Missense_Mutation_p.P323L|PPARD_ENST00000540939.1_Missense_Mutation_p.P220L|PPARD_ENST00000418635.2_Missense_Mutation_p.P225L|PPARD_ENST00000448077.2_Missense_Mutation_p.P284L|PPARD_ENST00000444397.1_Missense_Mutation_p.P323L|PPARD_ENST00000360694.3_Missense_Mutation_p.P323L	p.P323L	NM_001171818.1	NP_001165289.1	Q03181	PPARD_HUMAN			8	1317	+			323			Ligand-binding.		A8K6J6|B4E3V3|B6ZGS1|B7Z3W1|E9PE18|Q5D1P0|Q7Z5K0|Q9BUD4	Missense_Mutation	SNP	ENST00000311565.4	37	c.968C>T	CCDS4803.1	.	.	.	.	.	.	.	.	.	.	C	31	5.090222	0.94149	.	.	ENSG00000112033	ENST00000448077;ENST00000360694;ENST00000418635;ENST00000444397;ENST00000311565;ENST00000337400;ENST00000540939	D;D;D;D;D;D;D	0.96587	-4.06;-4.06;-4.06;-4.06;-4.06;-4.06;-4.06	5.72	5.72	0.89469	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	0.000000	0.85682	D	0.000000	D	0.98150	0.9389	M	0.81239	2.535	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.997;1.0;1.0;1.0	D	0.98532	1.0628	10	0.72032	D	0.01	.	19.8753	0.96867	0.0:1.0:0.0:0.0	.	225;284;323;323	E9PE18;B7Z3W1;Q03181;F1D8S7	.;.;PPARD_HUMAN;.	L	284;323;225;323;323;323;220	ENSP00000414372:P284L;ENSP00000353916:P323L;ENSP00000413314:P225L;ENSP00000410837:P323L;ENSP00000310928:P323L;ENSP00000337063:P323L;ENSP00000443759:P220L	ENSP00000310928:P323L	P	+	2	0	PPARD	35500424	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.818000	0.86416	2.711000	0.92665	0.655000	0.94253	CCC		0.527	PPARD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040288.1	NM_006238		14	12	0	0	0	1	0	14	12					T	35392446	C	T	35392446	3	4	435	1	0	0	0	0	1	0	0	0	12298	623	22	3	1003	3	PPARD	6	35392446	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	2797	35392446	135722621	3139	24064											
SRPK1	6732	broad.mit.edu	37	chr6	35840373	35840373	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aggcggaggagctccagatcGctgccattctgttgcttctg	6	11	13	11	2	2	1	0	0	2	1	4	3	3	3	2	3	3	4	2	3	0	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:35840373G>A	ENST00000373825.2	-	8	1003	c.718C>T	c.(718-720)Cga>Tga	p.R240*	SRPK1_ENST00000373822.1_Nonsense_Mutation_p.R133*|SRPK1_ENST00000423325.2_Nonsense_Mutation_p.R224*|SRPK1_ENST00000373821.2_5'Flank					SRSF protein kinase 1											endometrium(2)|large_intestine(10)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21						GCTCCAGATCGCTGCCATTCT	0.428																																					NSCLC(31;67 978 16289 24856 26454)	ENST00000373825.2																			0				endometrium(2)|large_intestine(10)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21						c.(718-720)Cga>Tga		SRSF protein kinase 1							63	59	60					6																	35840373		1922	4128	6050	SO:0001587	stop_gained	6732				cell differentiation|chromosome segregation|interspecies interaction between organisms|intracellular protein kinase cascade|mRNA processing|negative regulation of viral genome replication|positive regulation of viral genome replication|regulation of mRNA processing|RNA splicing	cytoplasm|nucleus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity	g.chr6:35840373G>A	U09564	CCDS47415.1	6p21.31	2010-06-23	2010-06-23		ENSG00000096063	ENSG00000096063			11305	protein-coding gene	gene with protein product	"SR protein kinase 1", "serine/arginine-rich splicing factor kinase 1"	601939	"SFRS protein kinase 1"			8208298, 10198174	Standard	NM_003137		Approved	SFRSK1	uc003olj.3	Q96SB4	OTTHUMG00000014583	ENST00000373825.2:c.718C>T	6.37:g.35840373G>A	ENSP00000362931:p.Arg240*					SRPK1_ENST00000373822.1_Nonsense_Mutation_p.R133*|SRPK1_ENST00000423325.2_Nonsense_Mutation_p.R224*	p.R240*			Q96SB4	SRPK1_HUMAN			8	1003	-			240			Protein kinase.			Nonsense_Mutation	SNP	ENST00000373825.2	37	c.718C>T	CCDS47415.1	.	.	.	.	.	.	.	.	.	.	G	36	5.849154	0.97023	.	.	ENSG00000096063	ENST00000373825;ENST00000361690;ENST00000423325;ENST00000373822	.	.	.	5.37	3.36	0.38483	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.10902	T	0.67	-3.9903	12.7944	0.57551	0.0:0.0:0.5849:0.4151	.	.	.	.	X	240;256;224;133	.	ENSP00000354674:R256X	R	-	1	2	SRPK1	35948351	1.000000	0.71417	0.999000	0.59377	0.999000	0.98932	3.012000	0.49575	1.248000	0.43934	0.655000	0.94253	CGA		0.428	SRPK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040319.3	NM_003137		4	12	0	0	0	1	0	4	12					A	35840373	G	A	35840373	4	1	435	1	0	0	0	0	0	1	0	0	15158	1095	38	1	1285	1	SRPK1	6	35840373	Nonsense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	447927	35840373	135274694	3140	24065											
SLC26A8	116369	broad.mit.edu	37	chr6	35923139	35923139	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tccacctcctcatactgttgCccttgatttttctgagacac	7	15	5	14	0	2	2	1	2	1	1	4	3	4	2	4	0	2	1	4	0	1	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:35923139C>T	ENST00000490799.1	-	17	2375	c.2022G>A	c.(2020-2022)ggG>ggA	p.G674G	SLC26A8_ENST00000355574.2_Silent_p.G674G|SLC26A8_ENST00000394602.2_Silent_p.G569G	NM_052961.3	NP_443193.1			solute carrier family 26 (anion exchanger), member 8											breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(16)|ovary(3)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	46						CATACTGTTGCCCTTGATTTT	0.483																																						ENST00000490799.1																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(16)|ovary(3)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	46						c.(2020-2022)ggG>ggA		solute carrier family 26 (anion exchanger), member 8							257	243	248					6																	35923139		2203	4300	6503	SO:0001819	synonymous_variant	116369				cell differentiation|meiosis|multicellular organismal development|spermatogenesis	integral to membrane|plasma membrane	anion:anion antiporter activity|chloride channel activity|oxalate transmembrane transporter activity|protein binding|sulfate transmembrane transporter activity	g.chr6:35923139C>T	AF331522	CCDS4813.1, CCDS4814.1	6p21	2013-07-18	2013-07-18		ENSG00000112053	ENSG00000112053		"Solute carriers"	14468	protein-coding gene	gene with protein product		608480	"solute carrier family 26, member 8"			11834742, 11829495	Standard	NM_001193476		Approved		uc003olm.3	Q96RN1	OTTHUMG00000014586	ENST00000490799.1:c.2022G>A	6.37:g.35923139C>T						SLC26A8_ENST00000394602.2_Silent_p.G569G|SLC26A8_ENST00000355574.2_Silent_p.G674G	p.G674G	NM_052961.3	NP_443193.1	Q96RN1	S26A8_HUMAN			17	2375	-			674			Interaction with RACGAP1.|STAS.			Silent	SNP	ENST00000490799.1	37	c.2022G>A	CCDS4813.1																																																																																				0.483	SLC26A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040325.2			30	50	0	0	0	1	0	30	50					T	35923139	C	T	35923139	2	4	435	1	0	0	0	0	0	0	0	1	14523	726	26	3		3	SLC26A8	6	35923139	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	82766	35923139	135191928	3141	24066											
SLC26A8	116369	broad.mit.edu	37	chr6	35980127	35980127	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaagattgtaagcacgcatcGtaggaacctgtgccatgagc	13	8	11	9	2	0	2	0	1	0	1	1	3	0	3	2	1	4	4	2	1	4	3	rs201650524		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:35980127G>A	ENST00000490799.1	-	3	564	c.211C>T	c.(211-213)Cga>Tga	p.R71*	SLC26A8_ENST00000355574.2_Nonsense_Mutation_p.R71*|SLC26A8_ENST00000394602.2_Nonsense_Mutation_p.R71*	NM_052961.3	NP_443193.1			solute carrier family 26 (anion exchanger), member 8											breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(16)|ovary(3)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	46						AGCACGCATCGTAGGAACCTG	0.468																																						ENST00000490799.1																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(16)|ovary(3)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	46						c.(211-213)Cga>Tga		solute carrier family 26 (anion exchanger), member 8							145	133	137					6																	35980127		2203	4300	6503	SO:0001587	stop_gained	116369				cell differentiation|meiosis|multicellular organismal development|spermatogenesis	integral to membrane|plasma membrane	anion:anion antiporter activity|chloride channel activity|oxalate transmembrane transporter activity|protein binding|sulfate transmembrane transporter activity	g.chr6:35980127G>A	AF331522	CCDS4813.1, CCDS4814.1	6p21	2013-07-18	2013-07-18		ENSG00000112053	ENSG00000112053		"Solute carriers"	14468	protein-coding gene	gene with protein product		608480	"solute carrier family 26, member 8"			11834742, 11829495	Standard	NM_001193476		Approved		uc003olm.3	Q96RN1	OTTHUMG00000014586	ENST00000490799.1:c.211C>T	6.37:g.35980127G>A	ENSP00000417638:p.Arg71*					SLC26A8_ENST00000394602.2_Nonsense_Mutation_p.R71*|SLC26A8_ENST00000355574.2_Nonsense_Mutation_p.R71*	p.R71*	NM_052961.3	NP_443193.1	Q96RN1	S26A8_HUMAN			3	564	-			71						Nonsense_Mutation	SNP	ENST00000490799.1	37	c.211C>T	CCDS4813.1	.	.	.	.	.	.	.	.	.	.	G	36	5.805946	0.96967	.	.	ENSG00000112053	ENST00000490799;ENST00000394602;ENST00000355574;ENST00000480663	.	.	.	5.81	4.66	0.58398	.	0.619767	0.15937	N	0.237391	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.9731	0.41765	0.0:0.0:0.1799:0.8201	.	.	.	.	X	71;71;71;157	.	ENSP00000347778:R71X	R	-	1	2	SLC26A8	36088105	0.005000	0.15991	0.170000	0.22879	0.859000	0.49053	1.088000	0.30877	1.035000	0.39972	-0.271000	0.10264	CGA		0.468	SLC26A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040325.2			16	43	0	0	0	1	0	16	43					A	35980127	G	A	35980127	4	1	435	1	0	0	0	0	0	1	0	0	14523	1153	40	1	2773	1	SLC26A8	6	35980127	Nonsense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	56988	35980127	135134940	3142	24067											
SLC26A8	116369	broad.mit.edu	37	chr6	35987305	35987305	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ggacacacgcaccggcactgGacgtggtgtctgaaggtggt	8	7	16	10	3	1	1	0	1	1	0	1	3	1	3	1	6	0	2	1	6	1	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:35987305G>A	ENST00000490799.1	-	2	533	c.180C>T	c.(178-180)gtC>gtT	p.V60V	SLC26A8_ENST00000355574.2_Silent_p.V60V|SLC26A8_ENST00000394602.2_Silent_p.V60V	NM_052961.3	NP_443193.1			solute carrier family 26 (anion exchanger), member 8											breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(16)|ovary(3)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	46						ACCGGCACTGGACGTGGTGTC	0.512																																						ENST00000490799.1																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(16)|ovary(3)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	46						c.(178-180)gtC>gtT		solute carrier family 26 (anion exchanger), member 8							229	171	191					6																	35987305		2203	4300	6503	SO:0001819	synonymous_variant	116369				cell differentiation|meiosis|multicellular organismal development|spermatogenesis	integral to membrane|plasma membrane	anion:anion antiporter activity|chloride channel activity|oxalate transmembrane transporter activity|protein binding|sulfate transmembrane transporter activity	g.chr6:35987305G>A	AF331522	CCDS4813.1, CCDS4814.1	6p21	2013-07-18	2013-07-18		ENSG00000112053	ENSG00000112053		"Solute carriers"	14468	protein-coding gene	gene with protein product		608480	"solute carrier family 26, member 8"			11834742, 11829495	Standard	NM_001193476		Approved		uc003olm.3	Q96RN1	OTTHUMG00000014586	ENST00000490799.1:c.180C>T	6.37:g.35987305G>A						SLC26A8_ENST00000394602.2_Silent_p.V60V|SLC26A8_ENST00000355574.2_Silent_p.V60V	p.V60V	NM_052961.3	NP_443193.1	Q96RN1	S26A8_HUMAN			2	533	-			60						Silent	SNP	ENST00000490799.1	37	c.180C>T	CCDS4813.1																																																																																				0.512	SLC26A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040325.2			7	15	0	0	0	1	0	7	15					A	35987305	G	A	35987305	2	1	435	1	0	0	0	0	0	0	0	1	14523	1161	41	3		3	SLC26A8	6	35987305	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	7178	35987305	135127762	3143	24068											
MAPK13	5603	broad.mit.edu	37	chr6	36106713	36106713	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggacaagcgcctgacggccgCgcaggccctcacccatccct	7	4	11	19	4	1	1	1	1	0	0	2	2	2	2	5	3	1	1	5	3	1	0	rs138408572		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:36106713C>T	ENST00000211287.4	+	11	1161	c.899C>T	c.(898-900)gCg>gTg	p.A300V	MAPK13_ENST00000373766.5_Silent_p.R249R|Z95152.1_ENST00000408816.1_RNA|MAPK13_ENST00000373759.1_3'UTR|MAPK13_ENST00000373761.6_Missense_Mutation_p.A290V	NM_002754.4	NP_002745.1	O15264	MK13_HUMAN	mitogen-activated protein kinase 13	300	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		A -> T (in dbSNP:rs41270090). {ECO:0000269|PubMed:17344846}.		cell cycle (GO:0007049)|intracellular signal transduction (GO:0035556)|MAPK cascade (GO:0000165)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-6 production (GO:0032755)|Ras protein signal transduction (GO:0007265)|regulation of transcription, DNA-templated (GO:0006355)|response to osmotic stress (GO:0006970)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)	ATP binding (GO:0005524)|MAP kinase activity (GO:0004707)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(2)|prostate(2)|skin(1)	12						CTGACGGCCGCGCAGGCCCTC	0.617																																						ENST00000211287.4																			0				breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(2)|prostate(2)|skin(1)	12						c.(898-900)gCg>gTg		mitogen-activated protein kinase 13		C	VAL/ALA	0,4406		0,0,2203	48	52	51		899	5.2	0.2	6	dbSNP_134	51	1,8599	1.2+/-3.3	0,1,4299	no	missense	MAPK13	NM_002754.3	64	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	300/366	36106713	1,13005	2203	4300	6503	SO:0001583	missense	5603				cell cycle|intracellular protein kinase cascade|nerve growth factor receptor signaling pathway|positive regulation of interleukin-6 production|Ras protein signal transduction|response to stress		ATP binding|MAP kinase activity|protein binding	g.chr6:36106713C>T	Y10488	CCDS4818.1	6p21	2011-06-09			ENSG00000156711	ENSG00000156711	2.7.11.1	"Mitogen-activated protein kinase cascade / Kinases"	6875	protein-coding gene	gene with protein product		602899		PRKM13		9295308, 9218798	Standard	NM_002754		Approved	SAPK4, p38delta	uc003ols.4	O15264	OTTHUMG00000014587	ENST00000211287.4:c.899C>T	6.37:g.36106713C>T	ENSP00000211287:p.Ala300Val					MAPK13_ENST00000373759.1_3'UTR|MAPK13_ENST00000373766.5_Silent_p.R249R|MAPK13_ENST00000373761.6_Missense_Mutation_p.A290V	p.A300V	NM_002754.4	NP_002745.1	O15264	MK13_HUMAN			11	1161	+			300		A -> T (in dbSNP:rs41270090).	Protein kinase.		O14739|O15124|Q5U4A5|Q6FI46|Q9UNU0	Missense_Mutation	SNP	ENST00000211287.4	37	c.899C>T	CCDS4818.1	.	.	.	.	.	.	.	.	.	.	C	15.98	2.991819	0.54041	0.0	1.16E-4	ENSG00000156711	ENST00000373761;ENST00000211287;ENST00000373770	T;T	0.66815	-0.23;-0.23	5.25	5.25	0.73442	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.360102	0.22859	N	0.054762	T	0.50257	0.1605	L	0.48174	1.505	0.80722	D	1	B	0.27068	0.167	B	0.20955	0.032	T	0.52859	-0.8519	10	0.46703	T	0.11	-2.7727	18.8249	0.92114	0.0:1.0:0.0:0.0	.	300	O15264	MK13_HUMAN	V	290;300;245	ENSP00000362866:A290V;ENSP00000211287:A300V	ENSP00000211287:A300V	A	+	2	0	MAPK13	36214691	0.968000	0.33430	0.151000	0.22473	0.697000	0.40408	5.992000	0.70609	2.442000	0.82660	0.484000	0.47621	GCG		0.617	MAPK13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040328.1			5	19	0	0	0	1	0	5	19					T	36106713	C	T	36106713	3	4	435	1	0	0	0	0	1	0	0	0	9275	768	27	1	941	1	MAPK13	6	36106713	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	119408	36106713	135008354	3144	24069											
BRPF3	27154	broad.mit.edu	37	chr6	36168828	36168828	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctggctgtacaccaggagtgCtatggcgtcccatacatccc	8	9	10	14	1	0	0	0	0	0	0	2	1	2	1	3	3	3	3	3	3	3	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:36168828C>T	ENST00000357641.6	+	2	982	c.729C>T	c.(727-729)tgC>tgT	p.C243C	BRPF3_ENST00000543502.1_Silent_p.C243C|BRPF3_ENST00000443324.2_Silent_p.C243C|BRPF3_ENST00000534400.1_Silent_p.C243C|BRPF3_ENST00000534694.1_Silent_p.C243C|BRPF3_ENST00000339717.7_Silent_p.C243C	NM_015695.2	NP_056510.2	Q9ULD4	BRPF3_HUMAN	bromodomain and PHD finger containing, 3	243					blood coagulation (GO:0007596)|histone H3 acetylation (GO:0043966)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	cytosol (GO:0005829)|extracellular region (GO:0005576)|MOZ/MORF histone acetyltransferase complex (GO:0070776)	zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2)	40						ACCAGGAGTGCTATGGCGTCC	0.537																																						ENST00000357641.6																			0				breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2)	40						c.(727-729)tgC>tgT		bromodomain and PHD finger containing, 3							107	95	99					6																	36168828		2203	4300	6503	SO:0001819	synonymous_variant	27154				histone H3 acetylation|platelet activation|platelet degranulation	cytosol|extracellular region|MOZ/MORF histone acetyltransferase complex	protein binding|zinc ion binding	g.chr6:36168828C>T	AB033112	CCDS34437.1	6p21.31	2008-02-05			ENSG00000096070	ENSG00000096070			14256	protein-coding gene	gene with protein product						10574462	Standard	NM_015695		Approved	KIAA1286	uc003olv.4	Q9ULD4	OTTHUMG00000014589	ENST00000357641.6:c.729C>T	6.37:g.36168828C>T						BRPF3_ENST00000534400.1_Silent_p.C243C|BRPF3_ENST00000543502.1_Silent_p.C243C|BRPF3_ENST00000339717.7_Silent_p.C243C|BRPF3_ENST00000443324.2_Silent_p.C243C|BRPF3_ENST00000534694.1_Silent_p.C243C	p.C243C	NM_015695.2	NP_056510.2	Q9ULD4	BRPF3_HUMAN			2	982	+			243					A6ND56|A6NJE2|B7ZLN5|E7EX85|Q17RB6|Q5R3K8	Silent	SNP	ENST00000357641.6	37	c.729C>T	CCDS34437.1																																																																																				0.537	BRPF3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000040335.3	NM_015695		14	26	0	0	0	1	0	14	26					T	36168828	C	T	36168828	2	4	435	1	0	0	0	0	0	0	0	1	1521	805	28	3		3	BRPF3	6	36168828	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	62115	36168828	134946239	3145	24070											
PNPLA1	285848	broad.mit.edu	37	chr6	36269821	36269821	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gtgggttcccaaaggggatgGaaggggcagccatggtccgc	8	6	18	9	1	0	0	0	0	0	0	2	2	2	2	3	7	1	2	3	7	2	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:36269821G>T	ENST00000394571.2	+	6	959	c.959G>T	c.(958-960)gGa>gTa	p.G320V	PNPLA1_ENST00000312917.5_Missense_Mutation_p.G234V|PNPLA1_ENST00000388715.3_Missense_Mutation_p.G225V	NM_001145717.1	NP_001139189.2	Q8N8W4	PLPL1_HUMAN	patatin-like phospholipase domain containing 1	320					lipid catabolic process (GO:0016042)	cytoplasm (GO:0005737)	hydrolase activity (GO:0016787)			breast(1)|kidney(1)|large_intestine(4)|lung(9)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	22						AAAGGGGATGGAAGGGGCAGC	0.572											OREG0017382	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000394571.2																			0				breast(1)|kidney(1)|large_intestine(4)|lung(9)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	22						c.(958-960)gGa>gTa		patatin-like phospholipase domain containing 1							96	97	96					6																	36269821		2203	4300	6503	SO:0001583	missense	285848				lipid catabolic process		hydrolase activity	g.chr6:36269821G>T		CCDS34438.1, CCDS47416.1, CCDS54997.1	6p21.31	2009-01-12			ENSG00000180316	ENSG00000180316		"Patatin-like phospholipase domain containing"	21246	protein-coding gene	gene with protein product		612121				16799181, 19029121	Standard	NM_001145717		Approved	FLJ38755, dJ50J22.1	uc010jwf.2	Q8N8W4	OTTHUMG00000014590	ENST00000394571.2:c.959G>T	6.37:g.36269821G>T	ENSP00000378072:p.Gly320Val		OREG0017382	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	861	PNPLA1_ENST00000388715.3_Missense_Mutation_p.G225V|PNPLA1_ENST00000312917.5_Missense_Mutation_p.G234V	p.G320V	NM_001145717.1	NP_001139189.2	Q8N8W4	PLPL1_HUMAN			6	959	+			320					A3RMU3|J3JS20|Q2A6N1|Q3SY95|Q3SY96|Q5R3L2	Missense_Mutation	SNP	ENST00000394571.2	37	c.959G>T	CCDS54997.1	.	.	.	.	.	.	.	.	.	.	G	8.412	0.844491	0.16963	.	.	ENSG00000180316	ENST00000388715;ENST00000312917;ENST00000457797;ENST00000394571	T;T;T;T	0.28895	1.81;1.81;1.59;1.59	5.54	2.7	0.31948	.	7739.230000	0.00166	N	0.000000	T	0.09202	0.0227	L	0.27053	0.805	0.09310	N	1	B;B	0.21452	0.056;0.024	B;B	0.23419	0.023;0.046	T	0.18935	-1.0321	10	0.45353	T	0.12	-2.2449	4.6606	0.12641	0.0828:0.1497:0.6124:0.155	.	320;234	Q8N8W4;Q8N8W4-3	PLPL1_HUMAN;.	V	225;234;321;320	ENSP00000373367:G225V;ENSP00000321116:G234V;ENSP00000391868:G321V;ENSP00000378072:G320V	ENSP00000321116:G234V	G	+	2	0	PNPLA1	36377799	0.001000	0.12720	0.001000	0.08648	0.024000	0.10985	0.494000	0.22467	0.720000	0.32209	-0.155000	0.13514	GGA		0.572	PNPLA1-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		NM_173676		8	22	1	0	2.17888e-05	1	2.24846e-05	8	22					T	36269821	G	T	36269821	3	4	435	1	0	0	0	0	1	0	0	0	12164	1174	41	5	1008	5	PNPLA1	6	36269821	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	100993	36269821	134845246	3146	24071											
PNPLA1	285848	broad.mit.edu	37	chr6	36275449	36275449	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gtggcaccagaaaaggcttcCcaagacattcgggatccaaa	14	6	10	11	1	0	2	0	0	0	2	3	3	2	3	3	3	0	2	3	3	4	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:36275449C>T	ENST00000394571.2	+	8	1555	c.1555C>T	c.(1555-1557)Cca>Tca	p.P519S	PNPLA1_ENST00000312917.5_Missense_Mutation_p.P433S|PNPLA1_ENST00000388715.3_Missense_Mutation_p.P424S	NM_001145717.1	NP_001139189.2	Q8N8W4	PLPL1_HUMAN	patatin-like phospholipase domain containing 1	519					lipid catabolic process (GO:0016042)	cytoplasm (GO:0005737)	hydrolase activity (GO:0016787)			breast(1)|kidney(1)|large_intestine(4)|lung(9)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	22						AAAAGGCTTCCCAAGACATTC	0.468																																						ENST00000394571.2																			0				breast(1)|kidney(1)|large_intestine(4)|lung(9)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	22						c.(1555-1557)Cca>Tca		patatin-like phospholipase domain containing 1							98	90	93					6																	36275449		2203	4300	6503	SO:0001583	missense	285848				lipid catabolic process		hydrolase activity	g.chr6:36275449C>T		CCDS34438.1, CCDS47416.1, CCDS54997.1	6p21.31	2009-01-12			ENSG00000180316	ENSG00000180316		"Patatin-like phospholipase domain containing"	21246	protein-coding gene	gene with protein product		612121				16799181, 19029121	Standard	NM_001145717		Approved	FLJ38755, dJ50J22.1	uc010jwf.2	Q8N8W4	OTTHUMG00000014590	ENST00000394571.2:c.1555C>T	6.37:g.36275449C>T	ENSP00000378072:p.Pro519Ser					PNPLA1_ENST00000388715.3_Missense_Mutation_p.P424S|PNPLA1_ENST00000312917.5_Missense_Mutation_p.P433S	p.P519S	NM_001145717.1	NP_001139189.2	Q8N8W4	PLPL1_HUMAN			8	1555	+			519					A3RMU3|J3JS20|Q2A6N1|Q3SY95|Q3SY96|Q5R3L2	Missense_Mutation	SNP	ENST00000394571.2	37	c.1555C>T	CCDS54997.1	.	.	.	.	.	.	.	.	.	.	C	4.248	0.044961	0.08196	.	.	ENSG00000180316	ENST00000388715;ENST00000312917;ENST00000457797;ENST00000394571	T;T;T;T	0.26518	1.96;1.96;1.73;1.73	5.46	2.27	0.28462	.	0.844928	0.10146	N	0.710197	T	0.06005	0.0156	L	0.27053	0.805	0.09310	N	1	B;B	0.20671	0.028;0.047	B;B	0.17979	0.006;0.02	T	0.39961	-0.9588	10	0.27082	T	0.32	-0.4312	7.9257	0.29872	0.0:0.6979:0.0:0.3021	.	519;433	Q8N8W4;Q8N8W4-3	PLPL1_HUMAN;.	S	424;433;520;519	ENSP00000373367:P424S;ENSP00000321116:P433S;ENSP00000391868:P520S;ENSP00000378072:P519S	ENSP00000321116:P433S	P	+	1	0	PNPLA1	36383427	0.000000	0.05858	0.300000	0.25030	0.313000	0.28021	-0.229000	0.09098	0.679000	0.31345	0.655000	0.94253	CCA		0.468	PNPLA1-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		NM_173676		7	17	0	0	0	1	0	7	17					T	36275449	C	T	36275449	3	4	435	1	0	0	0	0	1	0	0	0	12164	623	22	3	1612	3	PNPLA1	6	36275449	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	5628	36275449	134839618	3147	24072											
C6orf222	389384	broad.mit.edu	37	chr6	36298070	36298070	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgctgcttccaggggctccGgatgctgggagataccctcc	5	9	13	14	1	0	1	0	0	0	1	3	3	3	2	4	4	4	4	4	4	1	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:36298070G>A	ENST00000437635.2	-	2	575	c.398C>T	c.(397-399)cCg>cTg	p.P133L		NM_001010903.4	NP_001010903.3	P0C671	CF222_HUMAN	chromosome 6 open reading frame 222	133										breast(4)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|skin(4)|urinary_tract(4)	26						CAGGGGCTCCGGATGCTGGGA	0.617																																						ENST00000437635.2																			0				breast(4)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|skin(4)|urinary_tract(4)	26						c.(397-399)cCg>cTg		chromosome 6 open reading frame 222							73	65	68					6																	36298070		2203	4300	6503	SO:0001583	missense	389384							g.chr6:36298070G>A		CCDS34439.1	6p21.31	2012-02-22			ENSG00000189325	ENSG00000189325			33769	protein-coding gene	gene with protein product							Standard	NM_001010903		Approved	DKFZp779B1540	uc003oly.3	P0C671	OTTHUMG00000014591	ENST00000437635.2:c.398C>T	6.37:g.36298070G>A	ENSP00000418983:p.Pro133Leu						p.P133L	NM_001010903.4	NP_001010903.3	P0C671	CF222_HUMAN			2	575	-			133					B2RTY8	Missense_Mutation	SNP	ENST00000437635.2	37	c.398C>T	CCDS34439.1	.	.	.	.	.	.	.	.	.	.	G	0.016	-1.523972	0.00959	.	.	ENSG00000189325	ENST00000437635	T	0.53640	0.61	3.55	0.565	0.17309	.	1.486350	0.04351	N	0.355697	T	0.17577	0.0422	L	0.34521	1.04	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.26292	-1.0107	10	0.41790	T	0.15	-46.8963	9.0222	0.36206	0.2734:0.0:0.7266:0.0	.	133	P0C671	CF222_HUMAN	L	133	ENSP00000418983:P133L	ENSP00000418983:P133L	P	-	2	0	C6orf222	36406048	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-0.218000	0.09240	-0.240000	0.09696	-1.959000	0.00480	CCG		0.617	C6orf222-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040338.2	NM_001010903		32	34	0	0	0	1	0	32	34					A	36298070	G	A	36298070	3	1	435	1	0	0	0	0	1	0	0	0	2356	1116	39	2	1604	2	C6orf222	6	36298070	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	22621	36298070	134816997	3148	24073											
TMEM217	221468	broad.mit.edu	37	chr6	37186425	37186425	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agacaccaagccaaaccagcGcatgattctgacctctttaa	14	8	6	13	1	2	3	0	2	2	1	2	3	2	3	4	0	3	1	4	0	3	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:37186425G>A	ENST00000336655.2	-	2	421	c.382C>T	c.(382-384)Cgc>Tgc	p.R128C	TMEM217_ENST00000356757.2_Missense_Mutation_p.R128C|TMEM217_ENST00000497775.1_Intron	NM_145316.3	NP_660359.2	Q8N7C4	TM217_HUMAN	transmembrane protein 217	128						integral component of membrane (GO:0016021)				endometrium(2)|kidney(1)|large_intestine(5)|lung(1)	9						CCAAACCAGCGCATGATTCTG	0.423																																						ENST00000336655.2																			0				endometrium(2)|kidney(1)|large_intestine(5)|lung(1)	9						c.(382-384)Cgc>Tgc		transmembrane protein 217							156	153	154					6																	37186425		2203	4300	6503	SO:0001583	missense	221468					integral to membrane		g.chr6:37186425G>A		CCDS4831.1, CCDS69102.1	6p21.31-p21.2	2008-10-20	2008-07-07	2008-07-07	ENSG00000172738	ENSG00000172738			21238	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 128"	C6orf128			Standard	NM_001162900		Approved	dJ355M6.2	uc010jws.3	Q8N7C4	OTTHUMG00000014618	ENST00000336655.2:c.382C>T	6.37:g.37186425G>A	ENSP00000338164:p.Arg128Cys					TMEM217_ENST00000356757.2_Missense_Mutation_p.R128C|TMEM217_ENST00000497775.1_Intron	p.R128C	NM_145316.3	NP_660359.2	Q8N7C4	TM217_HUMAN			2	421	-			128					Q8TC54	Missense_Mutation	SNP	ENST00000336655.2	37	c.382C>T	CCDS4831.1	.	.	.	.	.	.	.	.	.	.	G	16.45	3.127379	0.56721	.	.	ENSG00000172738	ENST00000356757;ENST00000336655	.	.	.	4.54	3.65	0.41850	.	.	.	.	.	T	0.59689	0.2212	L	0.50333	1.59	0.46149	D	0.998899	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.995	T	0.64584	-0.6373	8	0.72032	D	0.01	-16.9321	10.6495	0.45640	0.0:0.1943:0.8057:0.0	.	128;128	Q8N7C4-2;Q8N7C4	.;TM217_HUMAN	C	128	.	ENSP00000338164:R128C	R	-	1	0	TMEM217	37294403	0.998000	0.40836	0.991000	0.47740	0.661000	0.39034	1.844000	0.39269	1.230000	0.43646	0.609000	0.83330	CGC		0.423	TMEM217-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000357542.1	NM_145316		5	112	0	0	0	1	0	5	112					A	37186425	G	A	37186425	3	1	435	1	0	0	0	0	1	0	0	0	16137	1087	38	1	319	1	TMEM217	6	37186425	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	888355	37186425	133928642	3149	24074											
FTSJD2	23070	broad.mit.edu	37	chr6	37421017	37421017	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ctgtcttgctttattgcaggGcagcaatgaagatggctaac	10	12	11	8	0	1	2	0	1	1	1	1	2	1	2	0	2	4	5	0	2	4	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:37421017G>A	ENST00000373451.4	+	8	870	c.706G>A	c.(706-708)Gca>Aca	p.A236T		NM_015050.2	NP_055865.1	Q8N1G2	CMTR1_HUMAN	cap methyltransferase 1	236	RrmJ-type SAM-dependent 2'-O-MTase. {ECO:0000255|PROSITE-ProRule:PRU00945}.				7-methylguanosine mRNA capping (GO:0006370)|cap1 mRNA methylation (GO:0097309)|mRNA methylation (GO:0080009)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	mRNA (nucleoside-2'-O-)-methyltransferase activity (GO:0004483)|nucleic acid binding (GO:0003676)										TTATTGCAGGGCAGCAATGAA	0.448																																						ENST00000373451.4																			0				breast(3)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(6)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(2)	31						c.e8-1									192	177	182					6																	37421017		2203	4300	6503	SO:0001630	splice_region_variant	0				mRNA capping	cytoplasm|nucleus	mRNA (nucleoside-2'-O-)-methyltransferase activity|nucleic acid binding	g.chr6:37421017G>A	BC031890	CCDS4835.1	6p21.2	2013-07-23	2013-07-23	2013-07-23	ENSG00000137200	ENSG00000137200	2.1.1.57	"G patch domain containing"	21077	protein-coding gene	gene with protein product			"KIAA0082", "FtsJ methyltransferase domain containing 2"	KIAA0082, FTSJD2		20713356	Standard	NM_015050		Approved	MTr1, ISG95	uc003ons.3	Q8N1G2	OTTHUMG00000014624	ENST00000373451.4:c.705-1G>A	6.37:g.37421017G>A							p.A236_splice	NM_015050.2	NP_055865.1	Q8N1G2	MTR1_HUMAN			8	870	+			236					A8K949|Q14670|Q96FJ9	Splice_Site	SNP	ENST00000373451.4	37	c.704_splice	CCDS4835.1	.	.	.	.	.	.	.	.	.	.	G	34	5.316368	0.95655	.	.	ENSG00000137200	ENST00000373451	T	0.39406	1.08	5.92	5.92	0.95590	Ribosomal RNA methyltransferase RrmJ/FtsJ (1);	0.000000	0.85682	D	0.000000	T	0.70798	0.3265	M	0.92169	3.28	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.77140	-0.2697	10	0.87932	D	0	-13.1703	19.3225	0.94248	0.0:0.0:1.0:0.0	.	236	Q8N1G2	MTR1_HUMAN	T	236	ENSP00000362550:A236T	ENSP00000362550:A236T	A	+	1	0	FTSJD2	37528995	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.869000	0.99810	2.822000	0.97130	0.650000	0.86243	GCA		0.448	CMTR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040408.1	NM_015050	Missense_Mutation	41	68	0	0	0	1	0	41	68					A	37421017	G	A	37421017	5	1	435	1	0	0	0	0	0	0	1	0	6091	1217	42	3	732	3	FTSJD2	6	37421017	Splice_Site	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	234592	37421017	133694050	3150	24075											
DNAH8	1769	broad.mit.edu	37	chr6	38790793	38790793	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agactctctggacagaggacCgcgatgtgaaagtgaaggtg	12	7	15	7	2	1	4	0	2	1	2	2	7	1	6	1	3	0	0	1	3	2	0	rs200239803		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:38790793C>T	ENST00000359357.3	+	25	3306	c.3052C>T	c.(3052-3054)Cgc>Tgc	p.R1018C	DNAH8_ENST00000449981.2_Missense_Mutation_p.R1235C|SNORA8_ENST00000391284.1_RNA|DNAH8_ENST00000441566.1_Missense_Mutation_p.R1018C			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	1018					cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						GACAGAGGACCGCGATGTGAA	0.458																																						ENST00000359357.3																			0				NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						c.(3052-3054)Cgc>Tgc		dynein, axonemal, heavy chain 8		C	CYS/ARG	0,4406		0,0,2203	110	113	112		3703	4.7	0.9	6		112	1,8599	1.2+/-3.3	0,1,4299	yes	missense	DNAH8	NM_001206927.1	180	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	1235/4708	38790793	1,13005	2203	4300	6503	SO:0001583	missense	1769							g.chr6:38790793C>T	Z83806	CCDS75447.1	6p21.2	2012-04-19	2006-09-04		ENSG00000124721	ENSG00000124721		"Axonemal dyneins"	2952	protein-coding gene	gene with protein product		603337	"dynein, axonemal, heavy polypeptide 8"			9373155	Standard	NM_001206927		Approved	hdhc9	uc021yzh.1	Q96JB1	OTTHUMG00000016253	ENST00000359357.3:c.3052C>T	6.37:g.38790793C>T	ENSP00000352312:p.Arg1018Cys					DNAH8_ENST00000449981.2_Missense_Mutation_p.R1235C|DNAH8_ENST00000441566.1_Missense_Mutation_p.R1018C	p.R1018C							25	3306	+								O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Missense_Mutation	SNP	ENST00000359357.3	37	c.3052C>T		.	.	.	.	.	.	.	.	.	.	C	13.62	2.292416	0.40594	0.0	1.16E-4	ENSG00000124721	ENST00000449981;ENST00000327475;ENST00000359357;ENST00000441566	T;T;T	0.27256	1.73;1.73;1.68	5.53	4.66	0.58398	.	0.260095	0.28635	N	0.014649	T	0.30417	0.0764	L	0.59436	1.845	0.52099	D	0.999943	D	0.76494	0.999	P	0.59357	0.856	T	0.10543	-1.0625	10	0.72032	D	0.01	.	12.2715	0.54708	0.3743:0.6257:0.0:0.0	.	1018	Q96JB1	DYH8_HUMAN	C	1223;1223;1018;1018	ENSP00000333363:R1223C;ENSP00000352312:R1018C;ENSP00000402294:R1018C	ENSP00000333363:R1223C	R	+	1	0	DNAH8	38898771	1.000000	0.71417	0.879000	0.34478	0.007000	0.05969	3.302000	0.51849	1.310000	0.45006	0.467000	0.42956	CGC		0.458	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000043574.1	NM_001206927		21	15	0	0	0	1	0	21	15					T	38790793	C	T	38790793	3	4	435	1	0	0	0	0	1	0	0	0	4607	652	23	2	3142	2	DNAH8	6	38790793	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	1369776	38790793	132324274	3151	24076											
DNAH8	1769	broad.mit.edu	37	chr6	38791409	38791409	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cactatgctacttttgaacaGgagattgatgagttgaagcc	12	12	10	7	0	0	5	0	4	0	1	0	6	0	5	1	1	4	2	1	1	4	6			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:38791409G>T	ENST00000359357.3	+	26	3395	c.3141G>T	c.(3139-3141)caG>caT	p.Q1047H	DNAH8_ENST00000449981.2_Missense_Mutation_p.Q1264H|SNORA8_ENST00000391284.1_RNA|DNAH8_ENST00000441566.1_Missense_Mutation_p.Q1047H			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	1047					cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						CTTTTGAACAGGAGATTGATG	0.313																																						ENST00000359357.3																			0				NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						c.(3139-3141)caG>caT		dynein, axonemal, heavy chain 8							97	97	97					6																	38791409		2203	4300	6503	SO:0001583	missense	1769							g.chr6:38791409G>T	Z83806	CCDS75447.1	6p21.2	2012-04-19	2006-09-04		ENSG00000124721	ENSG00000124721		"Axonemal dyneins"	2952	protein-coding gene	gene with protein product		603337	"dynein, axonemal, heavy polypeptide 8"			9373155	Standard	NM_001206927		Approved	hdhc9	uc021yzh.1	Q96JB1	OTTHUMG00000016253	ENST00000359357.3:c.3141G>T	6.37:g.38791409G>T	ENSP00000352312:p.Gln1047His					DNAH8_ENST00000449981.2_Missense_Mutation_p.Q1264H|DNAH8_ENST00000441566.1_Missense_Mutation_p.Q1047H	p.Q1047H							26	3395	+								O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Missense_Mutation	SNP	ENST00000359357.3	37	c.3141G>T		.	.	.	.	.	.	.	.	.	.	G	13.61	2.289084	0.40494	.	.	ENSG00000124721	ENST00000449981;ENST00000327475;ENST00000359357;ENST00000441566	T;T;T	0.26223	1.79;1.78;1.75	5.82	0.223	0.15292	.	0.304687	0.31577	N	0.007405	T	0.10594	0.0259	M	0.61703	1.905	0.36296	D	0.856713	B	0.21688	0.059	B	0.18561	0.022	T	0.05053	-1.0909	10	0.49607	T	0.09	.	7.7471	0.28875	0.6392:0.0:0.3608:0.0	.	1047	Q96JB1	DYH8_HUMAN	H	1252;1252;1047;1047	ENSP00000333363:Q1252H;ENSP00000352312:Q1047H;ENSP00000402294:Q1047H	ENSP00000333363:Q1252H	Q	+	3	2	DNAH8	38899387	1.000000	0.71417	0.999000	0.59377	0.958000	0.62258	2.272000	0.43373	0.091000	0.17302	0.563000	0.77884	CAG		0.313	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000043574.1	NM_001206927		30	43	1	0	2.65835e-16	1	2.91848e-16	30	43					T	38791409	G	T	38791409	3	4	435	1	0	0	0	0	1	0	0	0	4607	991	35	5	3235	5	DNAH8	6	38791409	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	616	38791409	132323658	3152	24077											
DAAM2	23500	broad.mit.edu	37	chr6	39864692	39864692	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tgaacaaagggcagcgtgggGgcgcctacgggttccgggtg	7	6	19	9	4	0	1	0	1	0	0	1	1	1	1	2	5	3	2	2	5	3	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:39864692G>A	ENST00000398904.2	+	20	2628	c.2446G>A	c.(2446-2448)Ggc>Agc	p.G816S	RP11-61I13.3_ENST00000420293.1_RNA|RP11-61I13.3_ENST00000437947.1_RNA|DAAM2_ENST00000274867.4_Missense_Mutation_p.G816S|RP11-61I13.3_ENST00000606829.1_RNA|RP11-61I13.3_ENST00000430595.1_RNA|DAAM2_ENST00000538976.1_Missense_Mutation_p.G816S			Q86T65	DAAM2_HUMAN	dishevelled associated activator of morphogenesis 2	816	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.				actin cytoskeleton organization (GO:0030036)|determination of left/right symmetry (GO:0007368)					NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(18)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)	49	Ovarian(28;0.0355)|Colorectal(47;0.196)					GCAGCGTGGGGGCGCCTACGG	0.612																																						ENST00000538976.1																			0				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(18)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)	49						c.(2446-2448)Ggc>Agc		dishevelled associated activator of morphogenesis 2							35	42	39					6																	39864692		2016	4160	6176	SO:0001583	missense	23500				actin cytoskeleton organization		actin binding|Rho GTPase binding	g.chr6:39864692G>A	AB002379	CCDS54999.1, CCDS56426.1	6p21.1	2008-07-30			ENSG00000146122	ENSG00000146122			18143	protein-coding gene	gene with protein product		606627				11779461, 12632087	Standard	NM_015345		Approved	KIAA0381	uc003oow.3	Q86T65	OTTHUMG00000014653	ENST00000398904.2:c.2446G>A	6.37:g.39864692G>A	ENSP00000381876:p.Gly816Ser					RP11-61I13.3_ENST00000606829.1_RNA|RP11-61I13.3_ENST00000430595.1_RNA|DAAM2_ENST00000398904.2_Missense_Mutation_p.G816S|RP11-61I13.3_ENST00000420293.1_RNA|DAAM2_ENST00000274867.4_Missense_Mutation_p.G816S	p.G816S	NM_015345.3	NP_056160.2	Q86T65	DAAM2_HUMAN			20	2628	+	Ovarian(28;0.0355)|Colorectal(47;0.196)		816			FH2.		G5EA45|Q5T4T8|Q5T4U0|Q9NQI5|Q9Y4G0	Missense_Mutation	SNP	ENST00000398904.2	37	c.2446G>A	CCDS56426.1	.	.	.	.	.	.	.	.	.	.	G	16.73	3.203113	0.58234	.	.	ENSG00000146122	ENST00000274867;ENST00000398904;ENST00000538976	T;T;T	0.62639	0.01;0.01;0.01	4.66	2.85	0.33270	Actin-binding FH2/DRF autoregulatory (1);Actin-binding FH2 (3);	0.197836	0.44688	N	0.000426	T	0.29423	0.0733	L	0.27975	0.815	0.80722	D	1	B;B	0.31790	0.34;0.213	B;B	0.33846	0.171;0.137	T	0.17289	-1.0374	10	0.59425	D	0.04	.	6.4625	0.21964	0.3722:0.0:0.6278:0.0	.	816;816	G5EA45;Q86T65	.;DAAM2_HUMAN	S	816	ENSP00000274867:G816S;ENSP00000381876:G816S;ENSP00000437808:G816S	ENSP00000274867:G816S	G	+	1	0	DAAM2	39972670	1.000000	0.71417	0.922000	0.36590	0.918000	0.54935	5.268000	0.65536	0.579000	0.29504	0.561000	0.74099	GGC		0.612	DAAM2-003	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000280648.1			12	13	0	0	0	1	0	12	13					A	39864692	G	A	39864692	3	1	435	1	0	0	0	0	1	0	0	0	4216	1232	43	3	2520	3	DAAM2	6	39864692	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	1073283	39864692	131250375	3153	24078											
UNC5CL	222643	broad.mit.edu	37	chr6	41001660	41001660	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgacactcatcccgggaggCgtgggcccccggccgcccca	5	3	14	19	5	1	0	1	0	0	0	2	2	2	1	6	4	0	0	6	4	0	0	rs141624251	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:41001660C>T	ENST00000373164.1	-	2	706	c.646G>A	c.(646-648)Gcc>Acc	p.A216T	UNC5CL_ENST00000470102.1_5'Flank|UNC5CL_ENST00000244565.3_Missense_Mutation_p.A216T			Q8IV45	UN5CL_HUMAN	unc-5 homolog C (C. elegans)-like	216	Interaction with RELA and NFKB1.				positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of JNK cascade (GO:0046330)|proteolysis (GO:0006508)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	peptidase activity (GO:0008233)			endometrium(1)|kidney(3)|large_intestine(3)|lung(3)|ovary(2)|upper_aerodigestive_tract(1)	13	Ovarian(28;0.0418)|Colorectal(47;0.196)					TCCCGGGAGGCGTGGGCCCCC	0.632													C|||	23	0.00459265	0.0174	0	5008	,	,		15823	0		0	False		,,,				2504	0					ENST00000244565.3																			0				endometrium(1)|kidney(3)|large_intestine(3)|lung(3)|ovary(2)|upper_aerodigestive_tract(1)	13						c.(646-648)Gcc>Acc		unc-5 homolog C (C. elegans)-like		C	THR/ALA	54,4352		1,52,2150	29	30	30		646	2.4	0.3	6	dbSNP_134	30	0,8600		0,0,4300	yes	missense	UNC5CL	NM_173561.2	58	1,52,6450	TT,TC,CC		0.0,1.2256,0.4152	benign	216/519	41001660	54,12952	2203	4300	6503	SO:0001583	missense	222643				signal transduction	cytoplasm|integral to membrane		g.chr6:41001660C>T	BC035284	CCDS4847.1	6p21.1	2013-10-15			ENSG00000124602	ENSG00000124602			21203	protein-coding gene	gene with protein product	"ZU5 and death domain containing"					14769797	Standard	NM_173561		Approved	MGC34763, ZUD	uc003opi.3	Q8IV45	OTTHUMG00000014665	ENST00000373164.1:c.646G>A	6.37:g.41001660C>T	ENSP00000362258:p.Ala216Thr					UNC5CL_ENST00000373164.1_Missense_Mutation_p.A216T	p.A216T	NM_173561.2	NP_775832.2	Q8IV45	UN5CL_HUMAN			3	734	-	Ovarian(28;0.0418)|Colorectal(47;0.196)		216			Interaction with RELA and NFKB1.		Q5TGU1	Missense_Mutation	SNP	ENST00000373164.1	37	c.646G>A	CCDS4847.1	4	0.0018315018315018315	4	0.008130081300813009	0	0.0	0	0.0	0	0.0	C	0.098	-1.156907	0.01686	0.012256	0.0	ENSG00000124602	ENST00000244565;ENST00000373164	T;T	0.12984	2.63;2.63	4.78	2.37	0.29283	.	0.551391	0.16496	N	0.211875	T	0.00936	0.0031	N	0.02539	-0.55	0.23704	N	0.997064	B	0.02656	0.0	B	0.01281	0.0	T	0.48175	-0.9058	10	0.02654	T	1	-6.8907	6.2752	0.20977	0.0:0.1898:0.0:0.8102	.	216	Q8IV45	UN5CL_HUMAN	T	216	ENSP00000244565:A216T;ENSP00000362258:A216T	ENSP00000244565:A216T	A	-	1	0	UNC5CL	41109638	0.933000	0.31639	0.326000	0.25389	0.165000	0.22458	1.674000	0.37544	0.330000	0.23485	-0.768000	0.03414	GCC		0.632	UNC5CL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040491.1	NM_173561		11	14	0	0	0	1	0	11	14					T	41001660	C	T	41001660	3	4	435	1	0	0	0	0	1	0	0	0	16991	768	27	1	938	1	UNC5CL	6	41001660	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	1136968	41001660	130113407	3154	24079											
FOXP4	116113	broad.mit.edu	37	chr6	41545742	41545742	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggctctccaagtggcccggCagttcctgctgcagcaggcc	6	7	13	15	1	1	0	0	0	1	0	3	0	2	0	4	4	3	6	4	4	1	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:41545742C>T	ENST00000307972.4	+	2	235	c.223C>T	c.(223-225)Cag>Tag	p.Q75*	FOXP4_ENST00000373063.3_Nonsense_Mutation_p.Q75*|FOXP4_ENST00000373060.1_Nonsense_Mutation_p.Q75*|FOXP4_ENST00000409208.1_Nonsense_Mutation_p.Q75*|FOXP4_ENST00000373057.3_Nonsense_Mutation_p.Q75*			Q8IVH2	FOXP4_HUMAN	forkhead box P4	75	Gln-rich.				embryonic foregut morphogenesis (GO:0048617)|heart development (GO:0007507)|lung secretory cell differentiation (GO:0061140)|negative regulation of lung goblet cell differentiation (GO:1901250)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	16	Ovarian(28;0.0327)|Colorectal(47;0.196)					AGTGGCCCGGCAGTTCCTGCT	0.617																																						ENST00000373060.1																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	16						c.(223-225)Cag>Tag		forkhead box P4							30	29	29					6																	41545742		2203	4300	6503	SO:0001587	stop_gained	116113				embryonic foregut morphogenesis|heart development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding	g.chr6:41545742C>T	AB080747	CCDS4856.1, CCDS34447.1, CCDS34448.1	6p21.1	2008-02-05			ENSG00000137166	ENSG00000137166		"Forkhead boxes"	20842	protein-coding gene	gene with protein product		608924					Standard	XM_006714991		Approved	FLJ40908	uc003oql.3	Q8IVH2	OTTHUMG00000014679	ENST00000307972.4:c.223C>T	6.37:g.41545742C>T	ENSP00000309823:p.Gln75*					FOXP4_ENST00000307972.4_Nonsense_Mutation_p.Q75*|FOXP4_ENST00000373063.3_Nonsense_Mutation_p.Q75*|FOXP4_ENST00000409208.1_Nonsense_Mutation_p.Q75*|FOXP4_ENST00000373057.3_Nonsense_Mutation_p.Q75*	p.Q75*	NM_001012426.1|NM_001012427.1	NP_001012426.1|NP_001012427.1	Q8IVH2	FOXP4_HUMAN			3	681	+	Ovarian(28;0.0327)|Colorectal(47;0.196)		75			Gln-rich.		Q5W098|Q7Z7F8|Q8IW55|Q96E19	Nonsense_Mutation	SNP	ENST00000307972.4	37	c.223C>T	CCDS34447.1	.	.	.	.	.	.	.	.	.	.	C	42	9.211106	0.99101	.	.	ENSG00000137166	ENST00000373060;ENST00000373063;ENST00000409208;ENST00000373057;ENST00000307972;ENST00000451305	.	.	.	4.61	4.61	0.57282	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.36615	T	0.2	.	16.213	0.82185	0.0:1.0:0.0:0.0	.	.	.	.	X	75;75;75;75;75;46	.	ENSP00000309823:Q75X	Q	+	1	0	FOXP4	41653720	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.428000	0.73383	2.120000	0.65058	0.591000	0.81541	CAG		0.617	FOXP4-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000106767.1	NM_138457		5	11	0	0	0	1	0	5	11					T	41545742	C	T	41545742	4	4	435	1	0	0	0	0	0	1	0	0	6029	711	25	3	229	3	FOXP4	6	41545742	Nonsense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	544082	41545742	129569325	3155	24080											
MDFI	4188	broad.mit.edu	37	chr6	41617506	41617506	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcagacacacccatctctcGccagccagggcagcaagaag	12	4	10	15	1	1	2	0	0	1	2	3	2	1	2	3	1	3	3	3	1	2	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:41617506G>A	ENST00000373050.4	+	3	413	c.226G>A	c.(226-228)Gcc>Acc	p.A76T				Q99750	MDFI_HUMAN	MyoD family inhibitor	137					activation of JUN kinase activity (GO:0007257)|cytoplasmic sequestering of transcription factor (GO:0042994)|dorsal/ventral axis specification (GO:0009950)|embryo development (GO:0009790)|embryonic skeletal system morphogenesis (GO:0048704)|negative regulation of DNA binding (GO:0043392)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of Wnt signaling pathway (GO:0030178)|trophoblast giant cell differentiation (GO:0060707)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|liver(2)|prostate(2)|skin(1)|urinary_tract(1)	8	Ovarian(28;0.0327)|Colorectal(47;0.121)		Colorectal(64;0.0123)|COAD - Colon adenocarcinoma(64;0.0264)|KIRC - Kidney renal clear cell carcinoma(1;0.138)			CCCATCTCTCGCCAGCCAGGG	0.642																																						ENST00000373050.4																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|liver(2)|prostate(2)|skin(1)|urinary_tract(1)	8						c.(226-228)Gcc>Acc		MyoD family inhibitor							110	118	115					6																	41617506		2203	4300	6503	SO:0001583	missense	4188				cytoplasmic sequestering of transcription factor|dorsal/ventral axis specification|negative regulation of DNA binding|negative regulation of transcription from RNA polymerase II promoter|negative regulation of Wnt receptor signaling pathway	cytoplasm|nucleus		g.chr6:41617506G>A	U78313	CCDS4857.1, CCDS75451.1	6p21	2008-08-29			ENSG00000112559	ENSG00000112559			6967	protein-coding gene	gene with protein product	"inhibitor of MyoD family a"	604971				9250874, 17289077	Standard	NM_005586		Approved	I-mfa	uc003oqq.4	Q99750	OTTHUMG00000014681	ENST00000373050.4:c.226G>A	6.37:g.41617506G>A	ENSP00000362141:p.Ala76Thr						p.A76T			Q99750	MDFI_HUMAN	Colorectal(64;0.0123)|COAD - Colon adenocarcinoma(64;0.0264)|KIRC - Kidney renal clear cell carcinoma(1;0.138)		3	413	+	Ovarian(28;0.0327)|Colorectal(47;0.121)		137						Missense_Mutation	SNP	ENST00000373050.4	37	c.226G>A		.	.	.	.	.	.	.	.	.	.	G	14.39	2.520161	0.44866	.	.	ENSG00000112559	ENST00000432027;ENST00000419164;ENST00000373051;ENST00000230321;ENST00000543326;ENST00000373050;ENST00000435476	.	.	.	5.42	2.53	0.30540	.	0.391108	0.25363	N	0.031209	T	0.10508	0.0257	L	0.51422	1.61	0.23144	N	0.998223	B	0.26258	0.145	B	0.13407	0.009	T	0.25745	-1.0123	9	0.11182	T	0.66	-3.6598	3.8631	0.09004	0.3229:0.1774:0.4997:0.0	.	137	Q99750	MDFI_HUMAN	T	137;137;137;137;137;76;76	.	ENSP00000230321:A137T	A	+	1	0	MDFI	41725484	1.000000	0.71417	0.981000	0.43875	0.866000	0.49608	2.636000	0.46545	0.669000	0.31146	-0.136000	0.14681	GCC		0.642	MDFI-002	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000040519.2	NM_005586		26	37	0	0	0	1	0	26	37					A	41617506	G	A	41617506	3	1	435	1	0	0	0	0	1	0	0	0	9404	1087	38	1	419	1	MDFI	6	41617506	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	71764	41617506	129497561	3156	24081											
PGC	5225	broad.mit.edu	37	chr6	41704632	41704632	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	actctgttgttgcccaagtcGtagacggaatagtaggacct	10	11	11	9	2	1	1	0	0	1	1	2	3	1	3	2	2	1	4	2	2	5	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:41704632G>A	ENST00000373025.3	-	9	1187	c.1125C>T	c.(1123-1125)taC>taT	p.Y375Y	TFEB_ENST00000403298.4_5'Flank|RP11-298J23.5_ENST00000438967.1_RNA|TFEB_ENST00000358871.2_5'Flank|TFEB_ENST00000373033.1_5'Flank|TFEB_ENST00000420312.1_5'Flank|TFEB_ENST00000230323.4_5'Flank	NM_002630.3	NP_002621.1	P20142	PEPC_HUMAN	progastricsin (pepsinogen C)	375					digestion (GO:0007586)|proteolysis (GO:0006508)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	aspartic-type endopeptidase activity (GO:0004190)			endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|skin(1)	16	Ovarian(28;0.0355)|Colorectal(47;0.121)		Epithelial(12;0.000132)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00507)			TGCCCAAGTCGTAGACGGAAT	0.612																																						ENST00000373025.3																			0				endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|skin(1)	16						c.(1123-1125)taC>taT		progastricsin (pepsinogen C)							124	102	109					6																	41704632		2203	4300	6503	SO:0001819	synonymous_variant	5225				digestion|proteolysis	extracellular space	aspartic-type endopeptidase activity	g.chr6:41704632G>A		CCDS4859.1, CCDS55000.1	6p21.1	2012-10-02			ENSG00000096088	ENSG00000096088	3.4.23.3		8890	protein-coding gene	gene with protein product		169740					Standard	NM_002630		Approved		uc003ora.2	P20142	OTTHUMG00000014683	ENST00000373025.3:c.1125C>T	6.37:g.41704632G>A							p.Y375Y	NM_002630.3	NP_002621.1	P20142	PEPC_HUMAN	Epithelial(12;0.000132)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00507)		9	1187	-	Ovarian(28;0.0355)|Colorectal(47;0.121)		375					B4DVZ3|Q5T3D7|Q5T3D8	Silent	SNP	ENST00000373025.3	37	c.1125C>T	CCDS4859.1																																																																																				0.612	PGC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040521.2			6	18	0	0	0	1	0	6	18					A	41704632	G	A	41704632	2	1	435	1	0	0	0	0	0	0	0	1	11785	1140	40	1		1	PGC	6	41704632	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	87126	41704632	129410435	3157	24082											
FRS3	10817	broad.mit.edu	37	chr6	41738655	41738655	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaagacccttggggagccgCggcggcgggtcagtggcaca	7	5	18	11	4	1	2	1	1	0	1	1	3	1	3	2	6	1	1	2	6	1	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:41738655C>T	ENST00000373018.3	-	7	1432	c.1181G>A	c.(1180-1182)cGc>cAc	p.R394H	FRS3_ENST00000259748.2_Missense_Mutation_p.R394H	NM_006653.3	NP_006644.1	O43559	FRS3_HUMAN	fibroblast growth factor receptor substrate 3	394					fibroblast growth factor receptor signaling pathway (GO:0008543)|signal transduction (GO:0007165)	plasma membrane (GO:0005886)	fibroblast growth factor receptor binding (GO:0005104)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	Ovarian(28;0.0355)|Colorectal(47;0.121)		Epithelial(12;8.38e-05)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			TGGGGAGCCGCGGCGGCGGGT	0.667																																						ENST00000373018.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						c.(1180-1182)cGc>cAc		fibroblast growth factor receptor substrate 3							24	31	28					6																	41738655		2191	4270	6461	SO:0001583	missense	10817				fibroblast growth factor receptor signaling pathway	plasma membrane	fibroblast growth factor receptor binding|insulin receptor binding	g.chr6:41738655C>T	AF036718	CCDS4860.1	6p21.1	2010-08-05			ENSG00000137218	ENSG00000137218			16970	protein-coding gene	gene with protein product		607744				8761293, 9660748	Standard	NM_006653		Approved	SNT-2, FRS2beta, FRS2B	uc003orc.1	O43559	OTTHUMG00000014686	ENST00000373018.3:c.1181G>A	6.37:g.41738655C>T	ENSP00000362109:p.Arg394His					FRS3_ENST00000259748.2_Missense_Mutation_p.R394H	p.R394H	NM_006653.3	NP_006644.1	O43559	FRS3_HUMAN	Epithelial(12;8.38e-05)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)		7	1432	-	Ovarian(28;0.0355)|Colorectal(47;0.121)		394					Q5T3D5	Missense_Mutation	SNP	ENST00000373018.3	37	c.1181G>A	CCDS4860.1	.	.	.	.	.	.	.	.	.	.	C	18.48	3.633513	0.67015	.	.	ENSG00000137218	ENST00000373018;ENST00000259748	T;T	0.26518	1.73;1.73	5.41	4.49	0.54785	.	0.000000	0.85682	D	0.000000	T	0.23965	0.0580	L	0.55481	1.735	0.35371	D	0.789044	D	0.61697	0.99	P	0.49502	0.613	T	0.05289	-1.0894	10	0.66056	D	0.02	-25.844	15.2524	0.73559	0.0:0.8591:0.1409:0.0	.	394	O43559	FRS3_HUMAN	H	394	ENSP00000362109:R394H;ENSP00000259748:R394H	ENSP00000259748:R394H	R	-	2	0	FRS3	41846633	0.101000	0.21875	0.995000	0.50966	0.987000	0.75469	0.567000	0.23608	2.536000	0.85505	0.655000	0.94253	CGC		0.667	FRS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040532.2	NM_006653		7	32	0	0	0	1	0	7	32					T	41738655	C	T	41738655	3	4	435	1	0	0	0	0	1	0	0	0	6062	768	27	1	301	1	FRS3	6	41738655	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	34023	41738655	129376412	3158	24083											
FRS3	10817	broad.mit.edu	37	chr6	41738969	41738969	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgccacagccccccggtgacGttctcgtaggtgcacttggg	5	8	13	15	4	1	1	0	1	1	0	2	1	1	1	4	3	2	3	4	3	1	3	rs528174551		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:41738969G>A	ENST00000373018.3	-	7	1118	c.867C>T	c.(865-867)aaC>aaT	p.N289N	FRS3_ENST00000259748.2_Silent_p.N289N	NM_006653.3	NP_006644.1	O43559	FRS3_HUMAN	fibroblast growth factor receptor substrate 3	289					fibroblast growth factor receptor signaling pathway (GO:0008543)|signal transduction (GO:0007165)	plasma membrane (GO:0005886)	fibroblast growth factor receptor binding (GO:0005104)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	Ovarian(28;0.0355)|Colorectal(47;0.121)		Epithelial(12;8.38e-05)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			CCCCGGTGACGTTCTCGTAGG	0.662													G|||	1	0.000199681	0	0	5008	,	,		15163	0.001		0	False		,,,				2504	0					ENST00000373018.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						c.(865-867)aaC>aaT		fibroblast growth factor receptor substrate 3							55	51	53					6																	41738969		2203	4300	6503	SO:0001819	synonymous_variant	10817				fibroblast growth factor receptor signaling pathway	plasma membrane	fibroblast growth factor receptor binding|insulin receptor binding	g.chr6:41738969G>A	AF036718	CCDS4860.1	6p21.1	2010-08-05			ENSG00000137218	ENSG00000137218			16970	protein-coding gene	gene with protein product		607744				8761293, 9660748	Standard	NM_006653		Approved	SNT-2, FRS2beta, FRS2B	uc003orc.1	O43559	OTTHUMG00000014686	ENST00000373018.3:c.867C>T	6.37:g.41738969G>A						FRS3_ENST00000259748.2_Silent_p.N289N	p.N289N	NM_006653.3	NP_006644.1	O43559	FRS3_HUMAN	Epithelial(12;8.38e-05)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)		7	1118	-	Ovarian(28;0.0355)|Colorectal(47;0.121)		289					Q5T3D5	Silent	SNP	ENST00000373018.3	37	c.867C>T	CCDS4860.1																																																																																				0.662	FRS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040532.2	NM_006653		12	20	0	0	0	1	0	12	20					A	41738969	G	A	41738969	2	1	435	1	0	0	0	0	0	0	0	1	6062	1136	40	1		1	FRS3	6	41738969	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	314	41738969	129376098	3159	24084											
MRPS10	55173	broad.mit.edu	37	chr6	42185562	42185562	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gccagaggcgccggcacacaGcaccgaacgctgtccgcgcc	8	2	13	18	6	0	1	0	0	0	1	1	2	1	1	5	2	2	3	5	2	1	0	rs141744276	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:42185562G>A	ENST00000053468.3	-	1	41	c.26C>T	c.(25-27)gCt>gTt	p.A9V		NM_018141.3	NP_060611.2	P82664	RT10_HUMAN	mitochondrial ribosomal protein S10	9						mitochondrion (GO:0005739)|ribosome (GO:0005840)				endometrium(1)|lung(1)	2	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|Epithelial(12;0.00528)			CCGGCACACAGCACCGAACGC	0.612													G|||	10	0.00199681	0	0	5008	,	,		14998	0		0.001	False		,,,				2504	0.0092					ENST00000053468.3																			0				endometrium(1)|lung(1)	2						c.(25-27)gCt>gTt		mitochondrial ribosomal protein S10		G	VAL/ALA	0,4406		0,0,2203	24	28	27		26	1.2	0	6	dbSNP_134	27	2,8598	2.2+/-6.3	0,2,4298	yes	missense	MRPS10	NM_018141.3	64	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	benign	9/202	42185562	2,13004	2203	4300	6503	SO:0001583	missense	55173				translation	actin cytoskeleton|mitochondrion|ribosome	structural constituent of ribosome	g.chr6:42185562G>A		CCDS4866.1	6p21.1	2012-09-13			ENSG00000048544	ENSG00000048544		"Mitochondrial ribosomal proteins / small subunits"	14502	protein-coding gene	gene with protein product		611976				11279123	Standard	NM_018141		Approved	FLJ10567	uc003osa.4	P82664	OTTHUMG00000014694	ENST00000053468.3:c.26C>T	6.37:g.42185562G>A	ENSP00000053468:p.Ala9Val						p.A9V	NM_018141.3	NP_060611.2	P82664	RT10_HUMAN	Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|Epithelial(12;0.00528)		1	41	-	Colorectal(47;0.196)		9					B2RE89|Q9H3E5|Q9NVR3	Missense_Mutation	SNP	ENST00000053468.3	37	c.26C>T	CCDS4866.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	12.65	2.001662	0.35320	0.0	2.33E-4	ENSG00000048544	ENST00000053468	.	.	.	5.26	1.2	0.21068	.	1.701420	0.03255	N	0.182437	T	0.11879	0.0289	N	0.24115	0.695	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.17653	-1.0362	9	0.46703	T	0.11	-0.0266	4.523	0.11968	0.3442:0.1589:0.4969:0.0	.	9	P82664	RT10_HUMAN	V	9	.	ENSP00000053468:A9V	A	-	2	0	MRPS10	42293540	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.016000	0.12613	0.619000	0.30197	-0.137000	0.14449	GCT		0.612	MRPS10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040547.1			6	12	0	0	0	1	0	6	12					A	42185562	G	A	42185562	3	1	435	1	0	0	0	0	1	0	0	0	9821	971	34	3	607	3	MRPS10	6	42185562	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	446593	42185562	128929505	3160	24085											
TRERF1	55809	broad.mit.edu	37	chr6	42196272	42196272	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agcagccccggcgcccccacGggccccgtagtcctctcaat	6	5	10	20	4	1	0	1	0	1	0	3	0	2	0	7	2	2	2	7	2	2	1	rs150908395		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:42196272G>A	ENST00000372922.4	-	18	3976	c.3414C>T	c.(3412-3414)ccC>ccT	p.P1138P	TRERF1_ENST00000340840.2_Silent_p.P1067P|TRERF1_ENST00000372917.4_Silent_p.P1067P|TRERF1_ENST00000354325.2_Silent_p.P1055P|TRERF1_ENST00000541110.1_Silent_p.P1158P	NM_033502.2	NP_277037.1	Q96PN7	TREF1_HUMAN	transcriptional regulating factor 1	1138	Interacts with CREBBP.				cholesterol catabolic process (GO:0006707)|homeostatic process (GO:0042592)|multicellular organismal development (GO:0007275)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of hormone biosynthetic process (GO:0046885)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|steroid biosynthetic process (GO:0006694)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding, bending (GO:0008301)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|metal ion binding (GO:0046872)|RNA polymerase II transcription cofactor activity (GO:0001104)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)	p.P1138P(1)		breast(1)|central_nervous_system(2)|endometrium(7)|kidney(1)|large_intestine(12)|lung(13)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(2)	45	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			GCGCCCCCACGGGCCCCGTAG	0.602																																						ENST00000541110.1																			1	Substitution - coding silent(1)	p.P1138P(1)	lung(1)	breast(1)|central_nervous_system(2)|endometrium(7)|kidney(1)|large_intestine(12)|lung(13)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(2)	45						c.(3472-3474)ccC>ccT		transcriptional regulating factor 1		G		0,4406		0,0,2203	141	165	157		3414	-8.8	0.2	6	dbSNP_134	157	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	TRERF1	NM_033502.2		0,2,6501	AA,AG,GG		0.0233,0.0,0.0154		1138/1201	42196272	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	55809				cholesterol catabolic process|homeostatic process|multicellular organismal development|positive regulation of transcription, DNA-dependent|regulation of hormone biosynthetic process|steroid biosynthetic process	nucleus	DNA bending activity|ligand-dependent nuclear receptor transcription coactivator activity|RNA polymerase II transcription cofactor activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding	g.chr6:42196272G>A	AF297872	CCDS4867.1, CCDS75455.1	6p21.1-p12.1	2012-09-25			ENSG00000124496	ENSG00000124496			18273	protein-coding gene	gene with protein product		610322	"breast cancer anti-estrogen resistance 2"	BCAR2		11349124	Standard	XM_005249223		Approved	TReP-132, HSA277276, RAPA, dJ139D8.5	uc003osd.2	Q96PN7	OTTHUMG00000014698	ENST00000372922.4:c.3414C>T	6.37:g.42196272G>A						TRERF1_ENST00000372922.4_Silent_p.P1138P|TRERF1_ENST00000372917.4_Silent_p.P1067P|TRERF1_ENST00000340840.2_Silent_p.P1067P|TRERF1_ENST00000354325.2_Silent_p.P1055P	p.P1158P			Q96PN7	TREF1_HUMAN	Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)		18	4042	-	Colorectal(47;0.196)		1138			Interacts with CREBBP.		Q05GC6|Q7Z6T2|Q7Z6T3|Q9NQ72|Q9NQ73|Q9NUN9	Silent	SNP	ENST00000372922.4	37	c.3474C>T	CCDS4867.1																																																																																				0.602	TRERF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040551.2	NM_033502		7	272	0	0	0	1	0	7	272					A	42196272	G	A	42196272	2	1	435	1	0	0	0	0	0	0	0	1	16472	1103	39	2		2	TRERF1	6	42196272	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	10710	42196272	128918795	3161	24086											
TBCC	6903	broad.mit.edu	37	chr6	42713704	42713704	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cgcctttcaacttccagctgCcgttcttgttcgcgtctctg	3	15	8	15	4	3	0	1	0	2	0	6	0	4	0	3	0	3	3	3	0	1	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:42713704C>T	ENST00000372876.1	-	1	130	c.108G>A	c.(106-108)cgG>cgA	p.R36R	TBCC_ENST00000244625.2_Silent_p.R36R	NM_003192.2	NP_003183	Q15814	TBCC_HUMAN	tubulin folding cofactor C	36					'de novo' posttranslational protein folding (GO:0051084)|cell morphogenesis (GO:0000902)|cellular protein metabolic process (GO:0044267)|GTP catabolic process (GO:0006184)|post-chaperonin tubulin folding pathway (GO:0007023)|protein folding (GO:0006457)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|microtubule (GO:0005874)|photoreceptor connecting cilium (GO:0032391)	chaperone binding (GO:0051087)|GTPase activity (GO:0003924)			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|urinary_tract(3)	14	Colorectal(47;0.196)		all cancers(41;0.00122)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.125)			CTTCCAGCTGCCGTTCTTGTT	0.597																																						ENST00000244625.2																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|urinary_tract(3)	14						c.(106-108)cgG>cgA		tubulin folding cofactor C							70	63	65					6																	42713704		2203	4300	6503	SO:0001819	synonymous_variant	6903				'de novo' posttranslational protein folding|post-chaperonin tubulin folding pathway	cytoplasm|microtubule|photoreceptor connecting cilium	chaperone binding|GTPase activity	g.chr6:42713704C>T	U61234	CCDS4872.1	6p21.1	2008-02-05	2006-11-21		ENSG00000124659	ENSG00000124659			11580	protein-coding gene	gene with protein product		602971	"tubulin-specific chaperone c"			8706133, 11847227	Standard	NM_003192		Approved	CFC	uc003osl.3	Q15814	OTTHUMG00000014704	ENST00000372876.1:c.108G>A	6.37:g.42713704C>T						TBCC_ENST00000372876.1_Silent_p.R36R	p.R36R			Q15814	TBCC_HUMAN	all cancers(41;0.00122)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.125)		2	671	-	Colorectal(47;0.196)		36					Q53Y43|Q5T787	Silent	SNP	ENST00000372876.1	37	c.108G>A	CCDS4872.1																																																																																				0.597	TBCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040559.1	NM_003192		27	35	0	0	0	1	0	27	35					T	42713704	C	T	42713704	2	4	435	1	0	0	0	0	0	0	0	1	15628	726	26	3		3	TBCC	6	42713704	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	517432	42713704	128401363	3162	24087											
KIAA0240	23506	broad.mit.edu	37	chr6	42832599	42832599	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	catctagtgcctaatcacatCgtggtctctgcagaaggaaa	12	10	9	10	1	3	1	1	0	2	1	5	2	3	2	1	2	2	1	1	2	4	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:42832599C>T	ENST00000314073.5	+	13	2831	c.2655C>T	c.(2653-2655)atC>atT	p.I885I	GLTSCR1L_ENST00000394168.1_Silent_p.I885I			Q6AI39	GSC1L_HUMAN	GLTSCR1-like	885																	CTAATCACATCGTGGTCTCTG	0.498																																						ENST00000314073.5																			0											c.(2653-2655)atC>atT		GLTSCR1-like							114	91	99					6																	42832599		2203	4300	6503	SO:0001819	synonymous_variant	23506							g.chr6:42832599C>T	AL833540	CCDS34451.1	6p21.1	2012-11-29	2012-11-29	2012-11-29	ENSG00000112624	ENSG00000112624			21111	protein-coding gene	gene with protein product			"KIAA0240"	KIAA0240			Standard	XM_005248972		Approved		uc003osp.1	Q6AI39	OTTHUMG00000014706	ENST00000314073.5:c.2655C>T	6.37:g.42832599C>T						GLTSCR1L_ENST00000394168.1_Silent_p.I885I	p.I885I							13	2831	+								A1L3W2|Q5TFZ3|Q92514	Silent	SNP	ENST00000314073.5	37	c.2655C>T	CCDS34451.1																																																																																				0.498	GLTSCR1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040562.3	NM_015349		7	22	0	0	0	1	0	7	22					T	42832599	C	T	42832599	2	4	435	1	0	0	0	0	0	0	0	1	8164	874	31	2		2	KIAA0240	6	42832599	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	118895	42832599	128282468	3163	24088											
CNPY3	10695	broad.mit.edu	37	chr6	42903398	42903398	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggagaggaccggcagcaatcGatttgccaaggttggattcg	10	8	15	8	3	0	1	0	0	0	1	2	5	0	3	2	5	2	3	2	5	2	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:42903398G>A	ENST00000372836.4	+	3	733	c.362G>A	c.(361-363)cGa>cAa	p.R121Q	CNPY3_ENST00000394142.3_3'UTR	NM_006586.3	NP_006577.2	Q9BT09	CNPY3_HUMAN	canopy FGF signaling regulator 3	121	Saposin B-type.				innate immune response (GO:0045087)|toll-like receptor signaling pathway (GO:0002224)	endoplasmic reticulum lumen (GO:0005788)				central_nervous_system(1)|endometrium(1)|lung(3)|ovary(1)	6	Colorectal(47;0.196)		all cancers(41;0.000954)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|OV - Ovarian serous cystadenocarcinoma(102;0.0218)|Kidney(15;0.0388)			GGCAGCAATCGATTTGCCAAG	0.512																																						ENST00000372836.4																			0				central_nervous_system(1)|endometrium(1)|lung(3)|ovary(1)	6						c.(361-363)cGa>cAa		canopy FGF signaling regulator 3							102	94	97					6																	42903398		2203	4300	6503	SO:0001583	missense	10695				innate immune response	endoplasmic reticulum		g.chr6:42903398G>A	U80744	CCDS4875.1	6p21.1	2013-09-19	2013-07-23	2007-10-22	ENSG00000137161	ENSG00000137161		"Trinucleotide (CAG) repeat containing"	11968	protein-coding gene	gene with protein product		610774	"trinucleotide repeat containing 5", "canopy 3 homolog (zebrafish)"	TNRC5		9225980	Standard	NM_006586		Approved	CAG4A	uc003ota.4	Q9BT09	OTTHUMG00000014708	ENST00000372836.4:c.362G>A	6.37:g.42903398G>A	ENSP00000361926:p.Arg121Gln					CNPY3_ENST00000394142.3_3'UTR	p.R121Q	NM_006586.3	NP_006577.2	Q9BT09	CNPY3_HUMAN	all cancers(41;0.000954)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|OV - Ovarian serous cystadenocarcinoma(102;0.0218)|Kidney(15;0.0388)		3	733	+	Colorectal(47;0.196)		121			Saposin B-type.		O15412|Q0P6I2|Q8NF54|Q8WTU8|Q9P0F2	Missense_Mutation	SNP	ENST00000372836.4	37	c.362G>A	CCDS4875.1	.	.	.	.	.	.	.	.	.	.	G	35	5.501312	0.96371	.	.	ENSG00000137161	ENST00000372836	T	0.37584	1.19	5.6	5.6	0.85130	.	0.000000	0.85682	D	0.000000	T	0.59689	0.2212	M	0.85462	2.755	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.64179	-0.6468	10	0.59425	D	0.04	-28.241	17.3905	0.87430	0.0:0.0:1.0:0.0	.	121	Q9BT09	CNPY3_HUMAN	Q	121	ENSP00000361926:R121Q	ENSP00000361926:R121Q	R	+	2	0	CNPY3	43011376	1.000000	0.71417	0.999000	0.59377	0.977000	0.68977	8.775000	0.91772	2.653000	0.90120	0.561000	0.74099	CGA		0.512	CNPY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040564.1	NM_006586		22	17	0	0	0	1	0	22	17					A	42903398	G	A	42903398	3	1	435	1	0	0	0	0	1	0	0	0	3629	1058	37	2	372	2	CNPY3	6	42903398	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	70799	42903398	128211669	3164	24089											
CNPY3	10695	broad.mit.edu	37	chr6	42905909	42905909	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aggaagacctgactgaattcCtctgcgccaaccacgtgctg	10	8	10	13	2	1	3	0	2	1	1	2	4	2	4	4	1	3	1	4	1	3	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:42905909C>A	ENST00000372836.4	+	5	948	c.577C>A	c.(577-579)Ctc>Atc	p.L193I	RP3-475N16.1_ENST00000450671.1_RNA|CNPY3_ENST00000394142.3_3'UTR	NM_006586.3	NP_006577.2	Q9BT09	CNPY3_HUMAN	canopy FGF signaling regulator 3	193	Saposin B-type.				innate immune response (GO:0045087)|toll-like receptor signaling pathway (GO:0002224)	endoplasmic reticulum lumen (GO:0005788)				central_nervous_system(1)|endometrium(1)|lung(3)|ovary(1)	6	Colorectal(47;0.196)		all cancers(41;0.000954)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|OV - Ovarian serous cystadenocarcinoma(102;0.0218)|Kidney(15;0.0388)			GACTGAATTCCTCTGCGCCAA	0.527																																						ENST00000372836.4																			0				central_nervous_system(1)|endometrium(1)|lung(3)|ovary(1)	6						c.(577-579)Ctc>Atc		canopy FGF signaling regulator 3							169	152	158					6																	42905909		2203	4300	6503	SO:0001583	missense	10695				innate immune response	endoplasmic reticulum		g.chr6:42905909C>A	U80744	CCDS4875.1	6p21.1	2013-09-19	2013-07-23	2007-10-22	ENSG00000137161	ENSG00000137161		"Trinucleotide (CAG) repeat containing"	11968	protein-coding gene	gene with protein product		610774	"trinucleotide repeat containing 5", "canopy 3 homolog (zebrafish)"	TNRC5		9225980	Standard	NM_006586		Approved	CAG4A	uc003ota.4	Q9BT09	OTTHUMG00000014708	ENST00000372836.4:c.577C>A	6.37:g.42905909C>A	ENSP00000361926:p.Leu193Ile					CNPY3_ENST00000394142.3_3'UTR	p.L193I	NM_006586.3	NP_006577.2	Q9BT09	CNPY3_HUMAN	all cancers(41;0.000954)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|OV - Ovarian serous cystadenocarcinoma(102;0.0218)|Kidney(15;0.0388)		5	948	+	Colorectal(47;0.196)		193			Saposin B-type.		O15412|Q0P6I2|Q8NF54|Q8WTU8|Q9P0F2	Missense_Mutation	SNP	ENST00000372836.4	37	c.577C>A	CCDS4875.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.150367	0.78001	.	.	ENSG00000137161	ENST00000372836	T	0.59638	0.25	5.02	5.02	0.67125	.	0.000000	0.64402	D	0.000001	T	0.69459	0.3113	M	0.70842	2.15	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	T	0.73049	-0.4105	10	0.62326	D	0.03	-18.386	15.2676	0.73675	0.0:1.0:0.0:0.0	.	193	Q9BT09	CNPY3_HUMAN	I	193	ENSP00000361926:L193I	ENSP00000361926:L193I	L	+	1	0	CNPY3	43013887	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	4.266000	0.58871	2.328000	0.79073	0.462000	0.41574	CTC		0.527	CNPY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040564.1	NM_006586		31	38	1	0	5.91797e-21	1	6.56533e-21	31	38					A	42905909	C	A	42905909	3	1	435	1	0	0	0	0	1	0	0	0	3629	681	24	5	595	5	CNPY3	6	42905909	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	2511	42905909	128209158	3165	24090											
CUL7	9820	broad.mit.edu	37	chr6	43010619	43010619	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccagcaagaaggctgcccgaGgcccaaacagttcagagctt	12	5	11	13	1	1	2	1	0	0	2	1	3	1	2	3	2	4	4	3	2	3	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:43010619G>A	ENST00000265348.3	-	19	3651	c.3566C>T	c.(3565-3567)cCt>cTt	p.P1189L	CUL7_ENST00000535468.1_Missense_Mutation_p.P1273L|CUL7_ENST00000478630.1_5'Flank			Q14999	CUL7_HUMAN	cullin 7	1189					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|epithelial to mesenchymal transition (GO:0001837)|Golgi organization (GO:0007030)|microtubule cytoskeleton organization (GO:0000226)|mitotic cytokinesis (GO:0000281)|placenta development (GO:0001890)|positive regulation of dendrite morphogenesis (GO:0050775)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of mitosis (GO:0007088)|ubiquitin-dependent protein catabolic process (GO:0006511)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	3M complex (GO:1990393)|anaphase-promoting complex (GO:0005680)|centrosome (GO:0005813)|Cul7-RING ubiquitin ligase complex (GO:0031467)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)				breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(8)|liver(1)|lung(11)|ovary(3)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	49			all cancers(41;0.00231)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			GGCTGCCCGAGGCCCAAACAG	0.527																																						ENST00000535468.1																			0				breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(8)|liver(1)|lung(11)|ovary(3)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	49						c.(3817-3819)cCt>cTt		cullin 7							48	45	46					6																	43010619		2203	4300	6503	SO:0001583	missense	9820				interspecies interaction between organisms|ubiquitin-dependent protein catabolic process|vasculogenesis	anaphase-promoting complex|mitochondrion	ubiquitin protein ligase binding	g.chr6:43010619G>A	BC033647	CCDS4881.1, CCDS55003.1	6p21.1	2011-05-24	2004-03-22	2004-03-22	ENSG00000044090	ENSG00000044090			21024	protein-coding gene	gene with protein product		609577	"KIAA0076"	KIAA0076		12481031, 12904573	Standard	NM_014780		Approved	dJ20C7.5	uc011dvb.2	Q14999	OTTHUMG00000014718	ENST00000265348.3:c.3566C>T	6.37:g.43010619G>A	ENSP00000265348:p.Pro1189Leu					CUL7_ENST00000265348.3_Missense_Mutation_p.P1189L	p.P1273L	NM_001168370.1|NM_014780.4	NP_001161842.1|NP_055595.2	Q14999	CUL7_HUMAN	all cancers(41;0.00231)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)		19	3904	-			1189					B4DYZ0|F5H0L1|Q5T654	Missense_Mutation	SNP	ENST00000265348.3	37	c.3818C>T	CCDS4881.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.011669	0.75046	.	.	ENSG00000044090	ENST00000265348;ENST00000535468	T;T	0.74002	-0.8;-0.8	5.59	5.59	0.84812	Cullin, N-terminal (1);	0.114186	0.64402	D	0.000013	T	0.79100	0.4389	L	0.59436	1.845	0.80722	D	1	P;D;D;D	0.64830	0.949;0.979;0.989;0.994	P;P;D;D	0.69479	0.738;0.83;0.964;0.95	T	0.81219	-0.1032	10	0.72032	D	0.01	-12.2985	12.6677	0.56851	0.0:0.0:0.7239:0.2761	.	1273;1189;1273;1189	F5H0L1;A8K9U1;B4DYZ0;Q14999	.;.;.;CUL7_HUMAN	L	1189;1273	ENSP00000265348:P1189L;ENSP00000438788:P1273L	ENSP00000265348:P1189L	P	-	2	0	CUL7	43118597	1.000000	0.71417	0.972000	0.41901	0.633000	0.38033	6.545000	0.73883	2.632000	0.89209	0.579000	0.79373	CCT		0.527	CUL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040575.1	NM_014780		4	24	0	0	0	1	0	4	24					A	43010619	G	A	43010619	3	1	435	1	0	0	0	0	1	0	0	0	4060	1000	35	3	1562	3	CUL7	6	43010619	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	104710	43010619	128104448	3166	24091											
CUL7	9820	broad.mit.edu	37	chr6	43012606	43012606	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcaaaattctgctcctggCgcagagcaccgttgagtctg	9	9	11	12	2	2	2	0	1	2	1	3	2	3	2	2	1	3	5	2	1	2	2	rs546860134		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:43012606C>T	ENST00000265348.3	-	16	3141	c.3056G>A	c.(3055-3057)cGc>cAc	p.R1019H	CUL7_ENST00000535468.1_Missense_Mutation_p.R1103H|CUL7_ENST00000478630.1_5'Flank			Q14999	CUL7_HUMAN	cullin 7	1019					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|epithelial to mesenchymal transition (GO:0001837)|Golgi organization (GO:0007030)|microtubule cytoskeleton organization (GO:0000226)|mitotic cytokinesis (GO:0000281)|placenta development (GO:0001890)|positive regulation of dendrite morphogenesis (GO:0050775)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of mitosis (GO:0007088)|ubiquitin-dependent protein catabolic process (GO:0006511)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	3M complex (GO:1990393)|anaphase-promoting complex (GO:0005680)|centrosome (GO:0005813)|Cul7-RING ubiquitin ligase complex (GO:0031467)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)				breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(8)|liver(1)|lung(11)|ovary(3)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	49			all cancers(41;0.00231)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			CTGCTCCTGGCGCAGAGCACC	0.597																																						ENST00000535468.1																			0				breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(8)|liver(1)|lung(11)|ovary(3)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	49						c.(3307-3309)cGc>cAc		cullin 7							95	91	92					6																	43012606		2203	4300	6503	SO:0001583	missense	9820				interspecies interaction between organisms|ubiquitin-dependent protein catabolic process|vasculogenesis	anaphase-promoting complex|mitochondrion	ubiquitin protein ligase binding	g.chr6:43012606C>T	BC033647	CCDS4881.1, CCDS55003.1	6p21.1	2011-05-24	2004-03-22	2004-03-22	ENSG00000044090	ENSG00000044090			21024	protein-coding gene	gene with protein product		609577	"KIAA0076"	KIAA0076		12481031, 12904573	Standard	NM_014780		Approved	dJ20C7.5	uc011dvb.2	Q14999	OTTHUMG00000014718	ENST00000265348.3:c.3056G>A	6.37:g.43012606C>T	ENSP00000265348:p.Arg1019His					CUL7_ENST00000265348.3_Missense_Mutation_p.R1019H	p.R1103H	NM_001168370.1|NM_014780.4	NP_001161842.1|NP_055595.2	Q14999	CUL7_HUMAN	all cancers(41;0.00231)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)		16	3394	-			1019					B4DYZ0|F5H0L1|Q5T654	Missense_Mutation	SNP	ENST00000265348.3	37	c.3308G>A	CCDS4881.1	.	.	.	.	.	.	.	.	.	.	C	17.05	3.288665	0.59976	.	.	ENSG00000044090	ENST00000265348;ENST00000535468	T;T	0.81415	-1.48;-1.49	5.18	5.18	0.71444	.	0.549193	0.20895	N	0.083750	D	0.83640	0.5298	M	0.61703	1.905	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.79784	0.953;0.993;0.99	D	0.84859	0.0818	10	0.59425	D	0.04	-17.3008	9.7096	0.40236	0.0:0.7827:0.141:0.0763	.	1103;1103;1019	F5H0L1;B4DYZ0;Q14999	.;.;CUL7_HUMAN	H	1019;1103	ENSP00000265348:R1019H;ENSP00000438788:R1103H	ENSP00000265348:R1019H	R	-	2	0	CUL7	43120584	0.998000	0.40836	1.000000	0.80357	0.419000	0.31324	1.539000	0.36104	2.422000	0.82143	0.462000	0.41574	CGC		0.597	CUL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040575.1	NM_014780		29	34	0	0	0	1	0	29	34					T	43012606	C	T	43012606	3	4	435	1	0	0	0	0	1	0	0	0	4060	768	27	1	2084	1	CUL7	6	43012606	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	1987	43012606	128102461	3167	24092											
CUL7	9820	broad.mit.edu	37	chr6	43017806	43017806	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	caccactcagccagggtcagGtgttcacactcctcagtgtc	8	9	9	15	0	4	0	4	0	0	0	6	0	5	0	3	2	1	1	3	2	0	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:43017806G>A	ENST00000265348.3	-	6	1549	c.1464C>T	c.(1462-1464)caC>caT	p.H488H	CUL7_ENST00000535468.1_Silent_p.H572H|CUL7_ENST00000478630.1_5'Flank			Q14999	CUL7_HUMAN	cullin 7	488					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|epithelial to mesenchymal transition (GO:0001837)|Golgi organization (GO:0007030)|microtubule cytoskeleton organization (GO:0000226)|mitotic cytokinesis (GO:0000281)|placenta development (GO:0001890)|positive regulation of dendrite morphogenesis (GO:0050775)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of mitosis (GO:0007088)|ubiquitin-dependent protein catabolic process (GO:0006511)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	3M complex (GO:1990393)|anaphase-promoting complex (GO:0005680)|centrosome (GO:0005813)|Cul7-RING ubiquitin ligase complex (GO:0031467)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)				breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(8)|liver(1)|lung(11)|ovary(3)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	49			all cancers(41;0.00231)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			CCAGGGTCAGGTGTTCACACT	0.552																																						ENST00000535468.1																			0				breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(8)|liver(1)|lung(11)|ovary(3)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	49						c.(1714-1716)caC>caT		cullin 7							115	103	107					6																	43017806		2203	4300	6503	SO:0001819	synonymous_variant	9820				interspecies interaction between organisms|ubiquitin-dependent protein catabolic process|vasculogenesis	anaphase-promoting complex|mitochondrion	ubiquitin protein ligase binding	g.chr6:43017806G>A	BC033647	CCDS4881.1, CCDS55003.1	6p21.1	2011-05-24	2004-03-22	2004-03-22	ENSG00000044090	ENSG00000044090			21024	protein-coding gene	gene with protein product		609577	"KIAA0076"	KIAA0076		12481031, 12904573	Standard	NM_014780		Approved	dJ20C7.5	uc011dvb.2	Q14999	OTTHUMG00000014718	ENST00000265348.3:c.1464C>T	6.37:g.43017806G>A						CUL7_ENST00000265348.3_Silent_p.H488H	p.H572H	NM_001168370.1|NM_014780.4	NP_001161842.1|NP_055595.2	Q14999	CUL7_HUMAN	all cancers(41;0.00231)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)		6	1802	-			488					B4DYZ0|F5H0L1|Q5T654	Silent	SNP	ENST00000265348.3	37	c.1716C>T	CCDS4881.1																																																																																				0.552	CUL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040575.1	NM_014780		10	53	0	0	0	1	0	10	53					A	43017806	G	A	43017806	2	1	435	1	0	0	0	0	0	0	0	1	4060	1252	44	3		3	CUL7	6	43017806	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	5200	43017806	128097261	3168	24093											
CUL7	9820	broad.mit.edu	37	chr6	43018788	43018788	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcataatcatccagcatcCgcactcgcatccccggctgc	8	8	6	19	3	2	0	2	0	0	0	6	0	5	0	5	1	2	4	5	1	1	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:43018788C>T	ENST00000265348.3	-	4	1236	c.1151G>A	c.(1150-1152)cGg>cAg	p.R384Q	CUL7_ENST00000535468.1_Missense_Mutation_p.R468Q|CUL7_ENST00000478630.1_5'Flank			Q14999	CUL7_HUMAN	cullin 7	384	Interaction with TP53.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|epithelial to mesenchymal transition (GO:0001837)|Golgi organization (GO:0007030)|microtubule cytoskeleton organization (GO:0000226)|mitotic cytokinesis (GO:0000281)|placenta development (GO:0001890)|positive regulation of dendrite morphogenesis (GO:0050775)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of mitosis (GO:0007088)|ubiquitin-dependent protein catabolic process (GO:0006511)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	3M complex (GO:1990393)|anaphase-promoting complex (GO:0005680)|centrosome (GO:0005813)|Cul7-RING ubiquitin ligase complex (GO:0031467)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)				breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(8)|liver(1)|lung(11)|ovary(3)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	49			all cancers(41;0.00231)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			ATCCAGCATCCGCACTCGCAT	0.567																																						ENST00000535468.1																			0				breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(8)|liver(1)|lung(11)|ovary(3)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	49						c.(1402-1404)cGg>cAg		cullin 7							108	95	99					6																	43018788		2203	4300	6503	SO:0001583	missense	9820				interspecies interaction between organisms|ubiquitin-dependent protein catabolic process|vasculogenesis	anaphase-promoting complex|mitochondrion	ubiquitin protein ligase binding	g.chr6:43018788C>T	BC033647	CCDS4881.1, CCDS55003.1	6p21.1	2011-05-24	2004-03-22	2004-03-22	ENSG00000044090	ENSG00000044090			21024	protein-coding gene	gene with protein product		609577	"KIAA0076"	KIAA0076		12481031, 12904573	Standard	NM_014780		Approved	dJ20C7.5	uc011dvb.2	Q14999	OTTHUMG00000014718	ENST00000265348.3:c.1151G>A	6.37:g.43018788C>T	ENSP00000265348:p.Arg384Gln					CUL7_ENST00000265348.3_Missense_Mutation_p.R384Q	p.R468Q	NM_001168370.1|NM_014780.4	NP_001161842.1|NP_055595.2	Q14999	CUL7_HUMAN	all cancers(41;0.00231)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)		4	1489	-			384					B4DYZ0|F5H0L1|Q5T654	Missense_Mutation	SNP	ENST00000265348.3	37	c.1403G>A	CCDS4881.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.413151	0.83449	.	.	ENSG00000044090	ENST00000265348;ENST00000535468	D;D	0.86497	-2.13;-2.11	5.39	5.39	0.77823	CPH domain (1);Translation protein SH3-like, subgroup (1);	0.196855	0.44285	D	0.000466	D	0.91703	0.7377	M	0.79123	2.44	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.964;0.999	D	0.92565	0.6061	10	0.87932	D	0	-15.0299	12.4935	0.55914	0.0:0.9231:0.0:0.0769	.	468;384	F5H0L1;Q14999	.;CUL7_HUMAN	Q	384;468	ENSP00000265348:R384Q;ENSP00000438788:R468Q	ENSP00000265348:R384Q	R	-	2	0	CUL7	43126766	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	4.602000	0.61098	2.533000	0.85409	0.563000	0.77884	CGG		0.567	CUL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040575.1	NM_014780		25	37	0	0	0	1	0	25	37					T	43018788	C	T	43018788	3	4	435	1	0	0	0	0	1	0	0	0	4060	652	23	2	4037	2	CUL7	6	43018788	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	982	43018788	128096279	3169	24094											
PTK7	5754	broad.mit.edu	37	chr6	43109739	43109739	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cacacagccctactgcagtgCgaggcccagggggaccccaa	10	3	12	16	1	0	0	0	0	0	0	0	2	0	1	4	3	4	1	4	3	2	1	rs369328885		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:43109739C>T	ENST00000230419.4	+	12	2060	c.1839C>T	c.(1837-1839)tgC>tgT	p.C613C	PTK7_ENST00000352931.2_Silent_p.C613C|PTK7_ENST00000481273.1_Silent_p.C621C|PTK7_ENST00000345201.2_Silent_p.C573C|PTK7_ENST00000349241.2_Silent_p.C483C	NM_002821.4	NP_002812.2	Q13308	PTK7_HUMAN	protein tyrosine kinase 7	613	Ig-like C2-type 7.				actin cytoskeleton reorganization (GO:0031532)|axis elongation (GO:0003401)|canonical Wnt signaling pathway (GO:0060070)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cellular response to retinoic acid (GO:0071300)|cochlea morphogenesis (GO:0090103)|convergent extension (GO:0060026)|establishment of epithelial cell apical/basal polarity (GO:0045198)|establishment of planar polarity (GO:0001736)|lung-associated mesenchyme development (GO:0060484)|neural tube closure (GO:0001843)|peptidyl-tyrosine phosphorylation (GO:0018108)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of neuron projection development (GO:0010976)|signal transduction (GO:0007165)|wound healing (GO:0042060)	cell-cell junction (GO:0005911)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(12)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00784)|OV - Ovarian serous cystadenocarcinoma(102;0.0423)			TACTGCAGTGCGAGGCCCAGG	0.602																																						ENST00000230419.4																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(12)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						c.(1837-1839)tgC>tgT		protein tyrosine kinase 7		C	,,,	0,4406		0,0,2203	55	58	57		1839,1719,1449,1839	-4.1	1	6		57	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	PTK7	NM_002821.3,NM_152880.2,NM_152881.2,NM_152882.2	,,,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,,,	613/1071,573/1031,483/941,613/1015	43109739	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0				actin cytoskeleton reorganization|canonical Wnt receptor signaling pathway|cell adhesion|cell migration	cell-cell junction|integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr6:43109739C>T	AF447176	CCDS4884.1, CCDS4885.1, CCDS4886.1, CCDS4887.1, CCDS59021.1	6p21.1-p12.2	2013-02-18	2013-02-18		ENSG00000112655	ENSG00000112655	2.7.10.1	"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	9618	protein-coding gene	gene with protein product		601890	"PTK7 protein tyrosine kinase 7"			7478540	Standard	NM_002821		Approved	CCK4	uc011dve.2	Q13308	OTTHUMG00000014721	ENST00000230419.4:c.1839C>T	6.37:g.43109739C>T						PTK7_ENST00000352931.2_Silent_p.C613C|PTK7_ENST00000345201.2_Silent_p.C573C|PTK7_ENST00000349241.2_Silent_p.C483C|PTK7_ENST00000481273.1_Silent_p.C621C	p.C613C	NM_002821.4	NP_002812.2	Q13308	PTK7_HUMAN	Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00784)|OV - Ovarian serous cystadenocarcinoma(102;0.0423)		12	2060	+			613			Ig-like C2-type 7.		A8K974|B7Z477|E9PFZ5|Q13417|Q5T650|Q6IQ54|Q8NFA5|Q8NFA6|Q8NFA7|Q8NFA8	Silent	SNP	ENST00000230419.4	37	c.1839C>T	CCDS4884.1																																																																																				0.602	PTK7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040580.2			19	19	0	0	0	1	0	19	19					T	43109739	C	T	43109739	2	4	435	1	0	0	0	0	0	0	0	1	12765	776	27	1		1	PTK7	6	43109739	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	90951	43109739	128005328	3170	24095											
CUL9	23113	broad.mit.edu	37	chr6	43160785	43160785	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	agctgctgaccaaccaggtgGgagagaagatggtggtcgtg	10	7	17	7	1	0	3	0	1	0	2	1	5	0	4	2	4	3	2	2	4	2	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:43160785G>A	ENST00000252050.4	+	9	2311	c.2227G>A	c.(2227-2229)Gga>Aga	p.G743R	CUL9_ENST00000354495.3_Missense_Mutation_p.G633R|CUL9_ENST00000372647.2_Missense_Mutation_p.G743R	NM_015089.2	NP_055904.1	Q8IWT3	CUL9_HUMAN	cullin 9	743					microtubule cytoskeleton organization (GO:0000226)|protein ubiquitination (GO:0016567)|regulation of mitosis (GO:0007088)|ubiquitin-dependent protein catabolic process (GO:0006511)	cullin-RING ubiquitin ligase complex (GO:0031461)|cytoplasm (GO:0005737)	ATP binding (GO:0005524)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						CAACCAGGTGGGAGAGAAGAT	0.582																																						ENST00000252050.4																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						c.(2227-2229)Gga>Aga		cullin 9							146	115	125					6																	43160785		2203	4300	6503	SO:0001583	missense	23113				ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex|cytoplasm	ATP binding|ubiquitin protein ligase binding|zinc ion binding	g.chr6:43160785G>A	AB014608	CCDS4890.1	6p21.1	2011-05-24			ENSG00000112659	ENSG00000112659			15982	protein-coding gene	gene with protein product	"parkin-like cytoplasmic p53 binding protein", "p53-associated parkin-like cytoplasmic protein"	607489				17332328, 10521492, 12526791	Standard	NM_015089		Approved	H7AP1, KIAA0708, PARC	uc003ouk.3	Q8IWT3	OTTHUMG00000014723	ENST00000252050.4:c.2227G>A	6.37:g.43160785G>A	ENSP00000252050:p.Gly743Arg					CUL9_ENST00000372647.2_Missense_Mutation_p.G743R|CUL9_ENST00000354495.3_Missense_Mutation_p.G633R	p.G743R	NM_015089.2	NP_055904.1	Q8IWT3	CUL9_HUMAN			9	2311	+			743					O75188|Q5TCY3|Q68CP2|Q68D92|Q8N3W9|Q9BU56	Missense_Mutation	SNP	ENST00000252050.4	37	c.2227G>A	CCDS4890.1	.	.	.	.	.	.	.	.	.	.	G	13.96	2.391654	0.42410	.	.	ENSG00000112659	ENST00000252050;ENST00000354495;ENST00000372647	T;T;T	0.37411	1.2;1.2;1.2	4.99	4.12	0.48240	Armadillo-like helical (1);Armadillo-type fold (1);	0.360695	0.28544	N	0.014967	T	0.08447	0.0210	N	0.24115	0.695	0.36768	D	0.883622	B;B	0.19583	0.037;0.037	B;B	0.12837	0.008;0.008	T	0.13361	-1.0512	10	0.13108	T	0.6	-5.91	8.0955	0.30826	0.305:0.0:0.695:0.0	.	743;743	E9PEZ1;Q8IWT3	.;CUL9_HUMAN	R	743;633;743	ENSP00000252050:G743R;ENSP00000346490:G633R;ENSP00000361730:G743R	ENSP00000252050:G743R	G	+	1	0	CUL9	43268763	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	2.543000	0.45752	1.098000	0.41479	0.297000	0.19635	GGA		0.582	CUL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040582.2	NM_015089		28	88	0	0	0	1	0	28	88					A	43160785	G	A	43160785	3	1	435	1	0	0	0	0	1	0	0	0	4061	1233	43	3	2257	3	CUL9	6	43160785	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	51046	43160785	127954282	3171	24096											
CUL9	23113	broad.mit.edu	37	chr6	43172186	43172186	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaccccttgagtcgagcagcGtcctttgcttctcgagttcg	6	12	10	13	4	1	1	0	1	1	0	5	3	2	1	3	0	4	3	3	0	1	4	rs143759620	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:43172186G>A	ENST00000252050.4	+	21	4332	c.4248G>A	c.(4246-4248)gcG>gcA	p.A1416A	CUL9_ENST00000354495.3_Silent_p.A1306A|CUL9_ENST00000372647.2_Silent_p.A1416A	NM_015089.2	NP_055904.1	Q8IWT3	CUL9_HUMAN	cullin 9	1416					microtubule cytoskeleton organization (GO:0000226)|protein ubiquitination (GO:0016567)|regulation of mitosis (GO:0007088)|ubiquitin-dependent protein catabolic process (GO:0006511)	cullin-RING ubiquitin ligase complex (GO:0031461)|cytoplasm (GO:0005737)	ATP binding (GO:0005524)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						GTCGAGCAGCGTCCTTTGCTT	0.577																																						ENST00000252050.4																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						c.(4246-4248)gcG>gcA		cullin 9		G		1,4405	2.1+/-5.4	0,1,2202	197	176	183		4248	-5.7	0.9	6	dbSNP_134	183	3,8597	2.2+/-6.3	0,3,4297	yes	coding-synonymous	CUL9	NM_015089.2		0,4,6499	AA,AG,GG		0.0349,0.0227,0.0308		1416/2518	43172186	4,13002	2203	4300	6503	SO:0001819	synonymous_variant	23113				ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex|cytoplasm	ATP binding|ubiquitin protein ligase binding|zinc ion binding	g.chr6:43172186G>A	AB014608	CCDS4890.1	6p21.1	2011-05-24			ENSG00000112659	ENSG00000112659			15982	protein-coding gene	gene with protein product	"parkin-like cytoplasmic p53 binding protein", "p53-associated parkin-like cytoplasmic protein"	607489				17332328, 10521492, 12526791	Standard	NM_015089		Approved	H7AP1, KIAA0708, PARC	uc003ouk.3	Q8IWT3	OTTHUMG00000014723	ENST00000252050.4:c.4248G>A	6.37:g.43172186G>A						CUL9_ENST00000372647.2_Silent_p.A1416A|CUL9_ENST00000354495.3_Silent_p.A1306A	p.A1416A	NM_015089.2	NP_055904.1	Q8IWT3	CUL9_HUMAN			21	4332	+			1416					O75188|Q5TCY3|Q68CP2|Q68D92|Q8N3W9|Q9BU56	Silent	SNP	ENST00000252050.4	37	c.4248G>A	CCDS4890.1																																																																																				0.577	CUL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040582.2	NM_015089		50	73	0	0	0	1	0	50	73					A	43172186	G	A	43172186	2	1	435	1	0	0	0	0	0	0	0	1	4061	1132	40	1		1	CUL9	6	43172186	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	11401	43172186	127942881	3172	24097											
SLC22A7	10864	broad.mit.edu	37	chr6	43270090	43270090	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctacgcaggacgccgcctcaCgcaagctgggacactgctgg	8	5	13	15	4	1	0	1	0	0	0	1	2	1	2	2	3	3	4	2	3	2	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:43270090C>T	ENST00000372585.5	+	8	1309	c.1214C>T	c.(1213-1215)aCg>aTg	p.T405M	SLC22A7_ENST00000372574.3_Missense_Mutation_p.T403M|SLC22A7_ENST00000372589.3_Missense_Mutation_p.T403M	NM_153320.2	NP_696961.2	Q9Y694	S22A7_HUMAN	solute carrier family 22 (organic anion transporter), member 7	405					organic anion transport (GO:0015711)|response to stilbenoid (GO:0035634)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	sodium-independent organic anion transmembrane transporter activity (GO:0015347)			NS(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(1)|skin(3)	26			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00998)|OV - Ovarian serous cystadenocarcinoma(102;0.0305)		Acetylsalicylic acid(DB00945)|Allopurinol(DB00437)|Aminohippurate(DB00345)|Bumetanide(DB00887)|Cefalotin(DB00456)|Cefamandole(DB01326)|Cefoperazone(DB01329)|Cefotaxime(DB00493)|Cimetidine(DB00501)|Clarithromycin(DB01211)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Docetaxel(DB01248)|Enalapril(DB00584)|Erythromycin(DB00199)|Fluorouracil(DB00544)|Ganciclovir(DB01004)|Glyburide(DB01016)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Methotrexate(DB00563)|Minocycline(DB01017)|Oxtriphylline(DB01303)|Oxytetracycline(DB00595)|Pravastatin(DB00175)|Probenecid(DB01032)|Rifampicin(DB01045)|Salicylic acid(DB00936)|Testosterone(DB00624)|Tetracycline(DB00759)|Theophylline(DB00277)|Valproic Acid(DB00313)|Zalcitabine(DB00943)|Zidovudine(DB00495)	CGCCGCCTCACGCAAGCTGGG	0.637																																						ENST00000372585.5																			0				NS(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(1)|skin(3)	26						c.(1213-1215)aCg>aTg		solute carrier family 22 (organic anion transporter), member 7							57	47	50					6																	43270090		2203	4300	6503	SO:0001583	missense	10864					basolateral plasma membrane|integral to plasma membrane|membrane fraction	anion:anion antiporter activity|sodium-independent organic anion transmembrane transporter activity	g.chr6:43270090C>T	AF097518	CCDS4892.1, CCDS4893.2	6p21.1	2013-05-22			ENSG00000137204	ENSG00000137204		"Solute carriers"	10971	protein-coding gene	gene with protein product		604995				9650585, 10773670	Standard	XM_006714970		Approved	NLT, OAT2	uc003out.3	Q9Y694	OTTHUMG00000014726	ENST00000372585.5:c.1214C>T	6.37:g.43270090C>T	ENSP00000361666:p.Thr405Met					SLC22A7_ENST00000372574.3_Missense_Mutation_p.T403M|SLC22A7_ENST00000372589.3_Missense_Mutation_p.T403M	p.T405M	NM_153320.2	NP_696961.2	Q9Y694	S22A7_HUMAN	Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00998)|OV - Ovarian serous cystadenocarcinoma(102;0.0305)		8	1309	+			405					B2CZX6|Q5T046|Q5T048|Q5T050|Q9H2W5	Missense_Mutation	SNP	ENST00000372585.5	37	c.1214C>T	CCDS4893.2	.	.	.	.	.	.	.	.	.	.	C	16.07	3.018747	0.54576	.	.	ENSG00000137204	ENST00000372589;ENST00000372585;ENST00000372574;ENST00000436107	T;T;T;T	0.73897	0.42;0.42;0.42;-0.79	5.27	4.4	0.53042	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.230793	0.43260	D	0.000586	T	0.79953	0.4535	M	0.89214	3.015	0.21740	N	0.999568	D;D;D	0.71674	0.998;0.998;0.998	D;P;P	0.65773	0.938;0.897;0.851	T	0.74346	-0.3695	10	0.66056	D	0.02	.	7.7104	0.28673	0.0:0.7478:0.1638:0.0884	.	405;403;403	Q9Y694;Q9Y694-2;Q9Y694-3	S22A7_HUMAN;.;.	M	403;405;403;98	ENSP00000361670:T403M;ENSP00000361666:T405M;ENSP00000361655:T403M;ENSP00000393836:T98M	ENSP00000361655:T403M	T	+	2	0	SLC22A7	43378068	0.001000	0.12720	0.748000	0.31131	0.781000	0.44180	1.025000	0.30090	1.224000	0.43551	0.462000	0.41574	ACG		0.637	SLC22A7-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000040588.1			7	7	0	0	0	1	0	7	7					T	43270090	C	T	43270090	3	4	435	1	0	0	0	0	1	0	0	0	14459	536	19	1	1240	1	SLC22A7	6	43270090	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	97904	43270090	127844977	3173	24098											
ABCC10	89845	broad.mit.edu	37	chr6	43403513	43403513	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcacggccctggcactggtgCgaatgctcattcttcctctc	5	12	9	15	2	4	0	2	0	2	0	6	1	5	0	2	3	2	2	2	3	1	2	rs143947606	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:43403513C>T	ENST00000372530.4	+	5	1848	c.1633C>T	c.(1633-1635)Cga>Tga	p.R545*	ABCC10_ENST00000244533.3_Nonsense_Mutation_p.R502*	NM_001198934.1	NP_001185863.1	Q5T3U5	MRP7_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 10	545	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(8)|lung(21)|ovary(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)		Cyclosporine(DB00091)|Cytarabine(DB00987)|Daunorubicin(DB00694)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Estradiol(DB00783)|Etoposide(DB00773)|Gemcitabine(DB00441)|Methotrexate(DB00563)|Paclitaxel(DB01229)|Sildenafil(DB00203)|Tenofovir(DB00300)|Verapamil(DB00661)|Vincristine(DB00541)	GGCACTGGTGCGAATGCTCAT	0.562													C|||	2	0.000399361	0.0015	0	5008	,	,		19902	0		0	False		,,,				2504	0					ENST00000244533.3																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(8)|lung(21)|ovary(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						c.(1504-1506)Cga>Tga		ATP-binding cassette, sub-family C (CFTR/MRP), member 10		C	stop/ARG,stop/ARG	7,4399	12.9+/-30.5	0,7,2196	97	86	90		1633,1504	2.4	0.6	6	dbSNP_134	90	0,8600		0,0,4300	yes	stop-gained,stop-gained	ABCC10	NM_001198934.1,NM_033450.2	,	0,7,6496	TT,TC,CC		0.0,0.1589,0.0538	,	545/1493,502/1465	43403513	7,12999	2203	4300	6503	SO:0001587	stop_gained	89845					integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr6:43403513C>T	U66684	CCDS4896.1, CCDS56430.1	6p12.3	2012-03-14			ENSG00000124574	ENSG00000124574		"ATP binding cassette transporters / subfamily C"	52	protein-coding gene	gene with protein product		612509				8894702	Standard	NM_033450		Approved	EST182763, MRP7, SIMRP7	uc003ouy.1	Q5T3U5	OTTHUMG00000014733	ENST00000372530.4:c.1633C>T	6.37:g.43403513C>T	ENSP00000361608:p.Arg545*					ABCC10_ENST00000372530.4_Nonsense_Mutation_p.R545*	p.R502*	NM_033450.2	NP_258261.2	Q5T3U5	MRP7_HUMAN	Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)		3	1863	+	all_lung(25;0.00536)		545			ABC transmembrane type-1 1.		Q8NHX7|Q9H7N2|Q9NXY3|Q9UF48	Nonsense_Mutation	SNP	ENST00000372530.4	37	c.1504C>T	CCDS56430.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	39	7.910067	0.98557	0.001589	0.0	ENSG00000124574	ENST00000372515;ENST00000372530;ENST00000244533	.	.	.	5.3	2.44	0.29823	.	0.250759	0.39615	N	0.001316	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.29301	T	0.29	-43.4071	9.7163	0.40276	0.0:0.3544:0.5532:0.0924	.	.	.	.	X	101;545;502	.	ENSP00000244533:R502X	R	+	1	2	ABCC10	43511491	1.000000	0.71417	0.609000	0.28983	0.768000	0.43524	3.671000	0.54576	0.619000	0.30197	0.462000	0.41574	CGA		0.562	ABCC10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040603.2	NM_033450		8	9	0	0	0	1	0	8	9					T	43403513	C	T	43403513	4	4	435	1	0	0	0	0	0	1	0	0	50	760	27	1	1514	1	ABCC10	6	43403513	Nonsense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	133423	43403513	127711554	3174	24099											
DLK2	65989	broad.mit.edu	37	chr6	43418543	43418543	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tagcccagcctcttgcctccGcaccacctccttcactgaga	7	9	6	19	1	2	1	1	1	1	1	4	2	4	1	7	0	3	1	7	0	1	3	rs139041633		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:43418543G>A	ENST00000357338.3	-	6	1586	c.886C>T	c.(886-888)Cgg>Tgg	p.R296W	DLK2_ENST00000372488.3_Missense_Mutation_p.R296W|DLK2_ENST00000414245.1_Missense_Mutation_p.R290W|DLK2_ENST00000372485.1_Missense_Mutation_p.R290W	NM_206539.1	NP_996262.1	Q6UY11	DLK2_HUMAN	delta-like 2 homolog (Drosophila)	296					negative regulation of Notch signaling pathway (GO:0045746)|regulation of fat cell differentiation (GO:0045598)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	7	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)			TCTTGCCTCCGCACCACCTCC	0.657																																						ENST00000357338.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	7						c.(886-888)Cgg>Tgg		delta-like 2 homolog (Drosophila)		G	TRP/ARG,TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	71	73	72		886,886	5.1	1	6	dbSNP_134	72	0,8600		0,0,4300	no	missense,missense	DLK2	NM_023932.2,NM_206539.1	101,101	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging	296/384,296/384	43418543	1,13005	2203	4300	6503	SO:0001583	missense	65989					integral to membrane	calcium ion binding	g.chr6:43418543G>A	AK055380	CCDS4897.1, CCDS75461.1	6p21.1	2008-02-05	2007-07-05	2007-07-05	ENSG00000171462	ENSG00000171462			21113	protein-coding gene	gene with protein product			"EGF-like-domain, multiple 9"	EGFL9			Standard	NM_001286656		Approved	MGC2487	uc003ovb.3	Q6UY11	OTTHUMG00000014735	ENST00000357338.3:c.886C>T	6.37:g.43418543G>A	ENSP00000349893:p.Arg296Trp					DLK2_ENST00000414245.1_Missense_Mutation_p.R290W|DLK2_ENST00000372485.1_Missense_Mutation_p.R290W|DLK2_ENST00000372488.3_Missense_Mutation_p.R296W	p.R296W	NM_206539.1	NP_996262.1	Q6UY11	DLK2_HUMAN	Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)		6	1586	-	all_lung(25;0.00536)		296					B3KNZ7|Q5T3T8|Q9BQ54	Missense_Mutation	SNP	ENST00000357338.3	37	c.886C>T	CCDS4897.1	.	.	.	.	.	.	.	.	.	.	G	18.23	3.577202	0.65878	2.27E-4	0.0	ENSG00000171462	ENST00000372485;ENST00000372488;ENST00000357338;ENST00000414245	D;D;D;D	0.89939	-2.59;-2.57;-2.57;-2.59	5.09	5.09	0.68999	.	0.234649	0.27482	N	0.019180	D	0.84955	0.5587	N	0.24115	0.695	0.32906	D	0.513828	D	0.76494	0.999	P	0.60609	0.877	D	0.86504	0.1805	10	0.66056	D	0.02	.	11.7976	0.52108	0.0:0.0:0.6983:0.3017	.	296	Q6UY11	DLK2_HUMAN	W	290;296;296;290	ENSP00000361563:R290W;ENSP00000361566:R296W;ENSP00000349893:R296W;ENSP00000398906:R290W	ENSP00000349893:R296W	R	-	1	2	DLK2	43526521	0.897000	0.30589	1.000000	0.80357	0.951000	0.60555	1.195000	0.32186	2.377000	0.81083	0.462000	0.41574	CGG		0.657	DLK2-003	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040618.1	NM_023932		20	30	0	0	0	1	0	20	30					A	43418543	G	A	43418543	3	1	435	1	0	0	0	0	1	0	0	0	4565	1086	38	1	269	1	DLK2	6	43418543	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	15030	43418543	127696524	3175	24100											
DLK2	65989	broad.mit.edu	37	chr6	43418773	43418773	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggcccctctctggcatgggCggctggcacagtcatccagg	5	7	15	14	1	2	0	1	0	1	0	4	0	3	0	3	6	0	3	3	6	0	0	rs146272567		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:43418773C>T	ENST00000357338.3	-	6	1356	c.656G>A	c.(655-657)cGc>cAc	p.R219H	DLK2_ENST00000372488.3_Missense_Mutation_p.R219H|DLK2_ENST00000414245.1_Missense_Mutation_p.R213H|DLK2_ENST00000372485.1_Missense_Mutation_p.R213H	NM_206539.1	NP_996262.1	Q6UY11	DLK2_HUMAN	delta-like 2 homolog (Drosophila)	219	EGF-like 6; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				negative regulation of Notch signaling pathway (GO:0045746)|regulation of fat cell differentiation (GO:0045598)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)	p.R219H(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	7	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)			CTGGCATGGGCGGCTGGCACA	0.617													C|||	1	0.000199681	8e-04	0	5008	,	,		19503	0		0	False		,,,				2504	0					ENST00000357338.3																			1	Substitution - Missense(1)	p.R219H(1)	endometrium(1)	breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	7						c.(655-657)cGc>cAc		delta-like 2 homolog (Drosophila)		C	HIS/ARG,HIS/ARG	8,4398	14.3+/-33.2	0,8,2195	59	62	61		656,656	-3.5	0.3	6	dbSNP_134	61	0,8600		0,0,4300	yes	missense,missense	DLK2	NM_023932.2,NM_206539.1	29,29	0,8,6495	TT,TC,CC		0.0,0.1816,0.0615	probably-damaging,probably-damaging	219/384,219/384	43418773	8,12998	2203	4300	6503	SO:0001583	missense	65989					integral to membrane	calcium ion binding	g.chr6:43418773C>T	AK055380	CCDS4897.1, CCDS75461.1	6p21.1	2008-02-05	2007-07-05	2007-07-05	ENSG00000171462	ENSG00000171462			21113	protein-coding gene	gene with protein product			"EGF-like-domain, multiple 9"	EGFL9			Standard	NM_001286656		Approved	MGC2487	uc003ovb.3	Q6UY11	OTTHUMG00000014735	ENST00000357338.3:c.656G>A	6.37:g.43418773C>T	ENSP00000349893:p.Arg219His					DLK2_ENST00000414245.1_Missense_Mutation_p.R213H|DLK2_ENST00000372485.1_Missense_Mutation_p.R213H|DLK2_ENST00000372488.3_Missense_Mutation_p.R219H	p.R219H	NM_206539.1	NP_996262.1	Q6UY11	DLK2_HUMAN	Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)		6	1356	-	all_lung(25;0.00536)		219			EGF-like 6; calcium-binding (Potential).		B3KNZ7|Q5T3T8|Q9BQ54	Missense_Mutation	SNP	ENST00000357338.3	37	c.656G>A	CCDS4897.1	1|1	4.578754578754579E-4|4.578754578754579E-4	1|1	0.0020325203252032522|0.0020325203252032522	0|0	0.0|0.0	0|0	0.0|0.0	0|0	0.0|0.0	C|C	11.81|11.81	1.750614|1.750614	0.31046|0.31046	0.001816|0.001816	0.0|0.0	ENSG00000171462|ENSG00000171462	ENST00000430324|ENST00000372485;ENST00000372488;ENST00000357338;ENST00000414245	.|D;D;D;D	.|0.87334	.|-2.24;-2.24;-2.24;-2.24	4.94|4.94	-3.51|-3.51	0.04696|0.04696	.|EGF-like calcium-binding, conserved site (1);EGF (1);EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	.|0.328631	.|0.33534	.|N	.|0.004806	T|T	0.53077|0.53077	0.1774|0.1774	N|N	0.10645|0.10645	0.015|0.015	0.26900|0.26900	N|N	0.967139|0.967139	.|B	.|0.12013	.|0.005	.|B	.|0.09377	.|0.004	T|T	0.38950|0.38950	-0.9637|-0.9637	5|10	.|0.34782	.|T	.|0.22	.|.	14.2527|14.2527	0.66031|0.66031	0.0:0.2844:0.0:0.7156|0.0:0.2844:0.0:0.7156	.|.	.|219	.|Q6UY11	.|DLK2_HUMAN	T|H	125|213;219;219;213	.|ENSP00000361563:R213H;ENSP00000361566:R219H;ENSP00000349893:R219H;ENSP00000398906:R213H	.|ENSP00000349893:R219H	A|R	-|-	1|2	0|0	DLK2|DLK2	43526751|43526751	0.076000|0.076000	0.21285|0.21285	0.321000|0.321000	0.25320|0.25320	0.989000|0.989000	0.77384|0.77384	-0.315000|-0.315000	0.08081|0.08081	-1.088000|-1.088000	0.03077|0.03077	-0.368000|-0.368000	0.07277|0.07277	GCC|CGC		0.617	DLK2-003	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040618.1	NM_023932		13	31	0	0	0	1	0	13	31					T	43418773	C	T	43418773	3	4	435	1	0	0	0	0	1	0	0	0	4565	768	27	1	499	1	DLK2	6	43418773	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	230	43418773	127696294	3176	24101											
TJAP1	93643	broad.mit.edu	37	chr6	43469376	43469376	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aggactgcctggagctggagCtgggccagagccgcgaggag	8	4	19	10	2	0	1	0	0	0	1	0	6	0	5	3	5	4	2	3	5	0	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:43469376C>T	ENST00000372445.5	+	6	617	c.241C>T	c.(241-243)Ctg>Ttg	p.L81L	TJAP1_ENST00000436109.2_Silent_p.L81L|TJAP1_ENST00000372449.1_Silent_p.L81L|TJAP1_ENST00000372444.2_Silent_p.L81L|TJAP1_ENST00000372452.1_Silent_p.L81L|TJAP1_ENST00000438588.2_Silent_p.L81L|TJAP1_ENST00000259751.1_Silent_p.L81L|TJAP1_ENST00000483640.1_3'UTR	NM_001146016.1	NP_001139488.1	Q5JTD0	TJAP1_HUMAN	tight junction associated protein 1 (peripheral)	81					Golgi organization (GO:0007030)	endosome (GO:0005768)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)|trans-Golgi network (GO:0005802)				cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|urinary_tract(2)	21	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0122)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)			GGAGCTGGAGCTGGGCCAGAG	0.602																																						ENST00000372444.2																			0				cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|urinary_tract(2)	21						c.(241-243)Ctg>Ttg		tight junction associated protein 1 (peripheral)							31	33	32					6																	43469376		2203	4300	6503	SO:0001819	synonymous_variant	93643					Golgi apparatus|tight junction	protein binding	g.chr6:43469376C>T	AK024269	CCDS4898.1, CCDS55004.1	6p21.1	2008-02-05	2005-07-05	2005-07-05	ENSG00000137221	ENSG00000137221			17949	protein-coding gene	gene with protein product		612658	"tight junction protein 4 (peripheral)"	TJP4		11602598	Standard	NM_001146016		Approved	PILT	uc011dvh.1	Q5JTD0	OTTHUMG00000014736	ENST00000372445.5:c.241C>T	6.37:g.43469376C>T						TJAP1_ENST00000438588.2_Silent_p.L81L|TJAP1_ENST00000372445.5_Silent_p.L81L|TJAP1_ENST00000372449.1_Silent_p.L81L|TJAP1_ENST00000372452.1_Silent_p.L81L|TJAP1_ENST00000259751.1_Silent_p.L81L|TJAP1_ENST00000436109.2_Silent_p.L81L|TJAP1_ENST00000483640.1_3'UTR	p.L81L	NM_001146018.1	NP_001139490.1	Q5JTD0	TJAP1_HUMAN	Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0122)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)		7	674	+	all_lung(25;0.00536)		81					Q05BH9|Q5JTD1|Q5JWW1|Q68DB2|Q6P2P3|Q9H7V7	Silent	SNP	ENST00000372445.5	37	c.241C>T	CCDS55004.1	.	.	.	.	.	.	.	.	.	.	C	10.22	1.291180	0.23564	.	.	ENSG00000137221	ENST00000454762	.	.	.	5.04	2.13	0.27403	.	.	.	.	.	T	0.39989	0.1099	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.22591	-1.0212	4	.	.	.	-27.1416	7.2464	0.26124	0.0:0.618:0.0:0.382	.	.	.	.	V	38	.	.	A	+	2	0	TJAP1	43577354	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	1.565000	0.36386	0.123000	0.18342	0.449000	0.29647	GCT		0.602	TJAP1-202	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000040629.1	NM_080604		9	18	0	0	0	1	0	9	18					T	43469376	C	T	43469376	2	4	435	1	0	0	0	0	0	0	0	1	15925	796	28	3		3	TJAP1	6	43469376	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	50603	43469376	127645691	3177	24102											
POLR1C	9533	broad.mit.edu	37	chr6	43487456	43487456	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ttgggcaggtgccaactatgGctgtggagaaggtcctggtg	7	10	17	7	0	0	1	0	0	0	1	1	2	1	1	2	6	2	2	2	6	3	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:43487456G>A	ENST00000372389.3	+	4	350	c.262G>A	c.(262-264)Gct>Act	p.A88T	POLR1C_ENST00000372344.2_Missense_Mutation_p.A88T|YIPF3_ENST00000372422.2_5'Flank|YIPF3_ENST00000506469.1_5'Flank|RP3-337H4.9_ENST00000607571.1_RNA|POLR1C_ENST00000304004.3_Missense_Mutation_p.A88T	NM_203290.2	NP_976035.1	O15160	RPAC1_HUMAN	polymerase (RNA) I polypeptide C, 30kDa	88					gene expression (GO:0010467)|innate immune response (GO:0045087)|positive regulation of type I interferon production (GO:0032481)|termination of RNA polymerase I transcription (GO:0006363)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase III promoter (GO:0006383)|transcription initiation from RNA polymerase I promoter (GO:0006361)	cytosol (GO:0005829)|DNA-directed RNA polymerase I complex (GO:0005736)|DNA-directed RNA polymerase III complex (GO:0005666)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)			kidney(1)|large_intestine(2)|lung(1)|prostate(1)	5	all_cancers(18;3.79e-05)|Lung NSC(15;0.00217)|all_lung(25;0.00536)		Colorectal(64;0.00245)|all cancers(41;0.00511)|COAD - Colon adenocarcinoma(64;0.00536)|OV - Ovarian serous cystadenocarcinoma(102;0.0711)			GCCAACTATGGCTGTGGAGAA	0.507																																						ENST00000372389.3																			0				kidney(1)|large_intestine(2)|lung(1)|prostate(1)	5						c.(262-264)Gct>Act		polymerase (RNA) I polypeptide C, 30kDa							130	130	130					6																	43487456		2203	4300	6503	SO:0001583	missense	9533				termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	DNA-directed RNA polymerase I complex|nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|protein dimerization activity	g.chr6:43487456G>A	AF008442	CCDS4901.1	6p21.1	2013-01-21			ENSG00000171453	ENSG00000171453		"RNA polymerase subunits"	20194	protein-coding gene	gene with protein product		610060				11042152, 12446911	Standard	NM_203290		Approved	RPA40, RPA39, RPA5, RPAC1	uc003ovn.3	O15160	OTTHUMG00000014739	ENST00000372389.3:c.262G>A	6.37:g.43487456G>A	ENSP00000361465:p.Ala88Thr					POLR1C_ENST00000372344.2_Missense_Mutation_p.A88T|POLR1C_ENST00000304004.3_Missense_Mutation_p.A88T|RP3-337H4.9_ENST00000607571.1_RNA	p.A88T	NM_203290.2	NP_976035.1	O15160	RPAC1_HUMAN	Colorectal(64;0.00245)|all cancers(41;0.00511)|COAD - Colon adenocarcinoma(64;0.00536)|OV - Ovarian serous cystadenocarcinoma(102;0.0711)		4	350	+	all_cancers(18;3.79e-05)|Lung NSC(15;0.00217)|all_lung(25;0.00536)		88					O75395|Q5JTE3	Missense_Mutation	SNP	ENST00000372389.3	37	c.262G>A	CCDS4901.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	35|35	5.580720|5.580720	0.96565|0.96565	.|.	.|.	ENSG00000171453|ENSG00000171453	ENST00000428025;ENST00000372389;ENST00000372373;ENST00000372344;ENST00000304004|ENST00000423780	D;D;D;D|.	0.92545|.	-3.06;-3.06;-3.06;-3.06|.	5.62|5.62	5.62|5.62	0.85841|0.85841	DNA-directed RNA polymerase, RpoA/D/Rpb3-type (1);DNA-directed RNA polymerase, insert domain (2);DNA-directed RNA polymerase, dimerisation (1);DNA-directed RNA polymerase, RBP11-like (1);DNA-directed RNA polymerase, 30-40kDa subunit, conserved site (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.86772|0.86772	0.6013|0.6013	H|H	0.95437|0.95437	3.67|3.67	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.97110|.	0.999;1.0|.	D|D	0.90125|0.90125	0.4202|0.4202	10|5	0.87932|.	D|.	0|.	-17.7614|-17.7614	19.6611|19.6611	0.95871|0.95871	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	88;88|.	O15160-2;O15160|.	.;RPAC1_HUMAN|.	T|D	33;88;2;88;88|87	ENSP00000395401:A33T;ENSP00000361465:A88T;ENSP00000361419:A88T;ENSP00000307212:A88T|.	ENSP00000307212:A88T|.	A|G	+|+	1|2	0|0	POLR1C|POLR1C	43595434|43595434	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.914000|0.914000	0.54420|0.54420	9.690000|9.690000	0.98676|0.98676	2.643000|2.643000	0.89663|0.89663	0.655000|0.655000	0.94253|0.94253	GCT|GGC		0.507	POLR1C-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040652.3	NM_004875		29	45	0	0	0	1	0	29	45					A	43487456	G	A	43487456	3	1	435	1	0	0	0	0	1	0	0	0	12211	1203	42	3	276	3	POLR1C	6	43487456	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	18080	43487456	127627611	3178	24103											
XPO5	57510	broad.mit.edu	37	chr6	43540301	43540301	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ccttctccaatcgagacatgCcgttccaccgaaacctgacc	10	8	6	17	3	1	2	0	1	1	1	4	4	2	2	7	0	2	1	7	0	2	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:43540301C>A	ENST00000265351.7	-	3	452	c.242G>T	c.(241-243)gGc>gTc	p.G81V		NM_020750.2	NP_065801.1	Q9HAV4	XPO5_HUMAN	exportin 5	81	Necessary for interaction with Ran.			G -> S (in Ref. 1; AAG53603). {ECO:0000305}.	gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|protein export from nucleus (GO:0006611)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|protein transporter activity (GO:0008565)|RNA binding (GO:0003723)|tRNA binding (GO:0000049)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(4)|lung(10)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	34	all_cancers(18;2.08e-05)|Lung NSC(15;0.000907)|all_lung(25;0.00243)		all cancers(41;0.000321)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|OV - Ovarian serous cystadenocarcinoma(102;0.0524)			TCGAGACATGCCGTTCCACCG	0.408																																						ENST00000265351.7																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(4)|lung(10)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	34						c.(241-243)gGc>gTc		exportin 5							178	166	169					6																	43540301		1962	4159	6121	SO:0001583	missense	57510				gene silencing by RNA	cytosol|nucleoplasm	protein binding|tRNA binding	g.chr6:43540301C>A	AB033117	CCDS47430.1	6p21.1	2011-04-13			ENSG00000124571	ENSG00000124571		"Exportins"	17675	protein-coding gene	gene with protein product		607845				11777942, 12426392	Standard	NM_020750		Approved	KIAA1291	uc003ovp.3	Q9HAV4	OTTHUMG00000014742	ENST00000265351.7:c.242G>T	6.37:g.43540301C>A	ENSP00000265351:p.Gly81Val						p.G81V	NM_020750.2	NP_065801.1	Q9HAV4	XPO5_HUMAN	all cancers(41;0.000321)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|OV - Ovarian serous cystadenocarcinoma(102;0.0524)		3	452	-	all_cancers(18;2.08e-05)|Lung NSC(15;0.000907)|all_lung(25;0.00243)		81	G -> S (in Ref. 1; AAG53603).		Necessary for interaction with Ran.		Q5JTE6|Q96G48|Q96HN3|Q9BWM6|Q9BZV5|Q9H9M4|Q9NT89|Q9NW39|Q9ULC9	Missense_Mutation	SNP	ENST00000265351.7	37	c.242G>T	CCDS47430.1	.	.	.	.	.	.	.	.	.	.	C	11.99	1.803179	0.31869	.	.	ENSG00000124571	ENST00000265351	T	0.66638	-0.22	4.88	-0.363	0.12556	Armadillo-like helical (1);Armadillo-type fold (1);Importin-beta, N-terminal (1);	0.404222	0.28958	N	0.013582	T	0.16642	0.0400	N	0.03608	-0.345	0.46061	D	0.998843	B	0.06786	0.001	B	0.04013	0.001	T	0.02885	-1.1098	10	0.25751	T	0.34	-0.9988	5.0732	0.14617	0.0:0.2321:0.282:0.4859	.	81	Q9HAV4	XPO5_HUMAN	V	81	ENSP00000265351:G81V	ENSP00000265351:G81V	G	-	2	0	XPO5	43648279	0.990000	0.36364	0.998000	0.56505	0.985000	0.73830	0.214000	0.17541	0.210000	0.20664	0.655000	0.94253	GGC		0.408	XPO5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040657.2	NM_020750		26	30	1	0	1.26454e-06	1	1.31807e-06	26	30					A	43540301	C	A	43540301	3	1	435	1	0	0	0	0	1	0	0	0	17444	739	26	5	3492	5	XPO5	6	43540301	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	52845	43540301	127574766	3179	24104											
RSPH9	221421	broad.mit.edu	37	chr6	43623320	43623320	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tccagatcaaggaagagaccCgcttggtgtctgtcattgac	10	10	11	10	1	3	3	2	1	1	2	4	5	4	4	2	2	0	1	2	2	2	2	rs368519003		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:43623320C>T	ENST00000372163.4	+	3	468	c.415C>T	c.(415-417)Cgc>Tgc	p.R139C	RSPH9_ENST00000372165.4_Intron	NM_152732.4	NP_689945.2	Q9H1X1	RSPH9_HUMAN	radial spoke head 9 homolog (Chlamydomonas)	139					axoneme assembly (GO:0035082)|cilium movement (GO:0003341)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|motile cilium (GO:0031514)				NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						GGAAGAGACCCGCTTGGTGTC	0.622									Kartagener syndrome				C|||	1	0.000199681	0	0.0014	5008	,	,		16020	0		0	False		,,,				2504	0					ENST00000372163.4																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						c.(415-417)Cgc>Tgc		radial spoke head 9 homolog (Chlamydomonas)		C	,CYS/ARG	0,4406		0,0,2203	115	116	116		,415	5.4	1	6		116	1,8599	1.2+/-3.3	0,1,4299	no	intron,missense	RSPH9	NM_001193341.1,NM_152732.4	,180	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,probably-damaging	,139/277	43623320	1,13005	2203	4300	6503	SO:0001583	missense	221421	Kartagener syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	cilium axoneme assembly|cilium movement	cytoplasm|cytoskeleton		g.chr6:43623320C>T	AK055407	CCDS4905.1, CCDS55005.1	6p21.1	2012-05-03	2009-02-17	2009-02-17	ENSG00000172426	ENSG00000172426			21057	protein-coding gene	gene with protein product		612648	"mitochondrial ribosomal protein S18A-like 1", "chromosome 6 open reading frame 206"	MRPS18AL1, C6orf206		19200523	Standard	NM_152732		Approved	FLJ30845, CILD12	uc003ovx.2	Q9H1X1	OTTHUMG00000014746	ENST00000372163.4:c.415C>T	6.37:g.43623320C>T	ENSP00000361236:p.Arg139Cys					RSPH9_ENST00000372165.4_Intron	p.R139C	NM_152732.4	NP_689945.2	Q9H1X1	RSPH9_HUMAN			3	468	+			139					A8K5T4|Q96NH9	Missense_Mutation	SNP	ENST00000372163.4	37	c.415C>T	CCDS4905.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	22.5|22.5	4.291826|4.291826	0.80914|0.80914	0.0|0.0	1.16E-4|1.16E-4	ENSG00000172426|ENSG00000172426	ENST00000417236|ENST00000372163;ENST00000372154	.|T	.|0.65178	.|-0.14	5.36|5.36	5.36|5.36	0.76844|0.76844	.|.	.|.	.|.	.|.	.|.	T|T	0.81123|0.81123	0.4757|0.4757	M|M	0.91717|0.91717	3.235|3.235	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.97110	.|1.0	D|D	0.85192|0.85192	0.1010|0.1010	5|9	.|0.72032	.|D	.|0.01	.|.	16.5997|16.5997	0.84810|0.84810	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|139	.|Q9H1X1	.|RSPH9_HUMAN	L|C	63|139;107	.|ENSP00000361236:R139C	.|ENSP00000361227:R107C	P|R	+|+	2|1	0|0	RSPH9|RSPH9	43731298|43731298	0.997000|0.997000	0.39634|0.39634	0.996000|0.996000	0.52242|0.52242	0.909000|0.909000	0.53808|0.53808	3.969000|3.969000	0.56816|0.56816	2.499000|2.499000	0.84300|0.84300	0.591000|0.591000	0.81541|0.81541	CCG|CGC		0.622	RSPH9-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040690.1	NM_152732		51	90	0	0	0	1	0	51	90					T	43623320	C	T	43623320	3	4	435	1	0	0	0	0	1	0	0	0	13708	652	23	2	425	2	RSPH9	6	43623320	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	83019	43623320	127491747	3180	24105											
TMEM63B	55362	broad.mit.edu	37	chr6	44116566	44116566	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gaggcttcatctggtggctgCgctgcctggtcatcaatgtc	5	12	13	11	1	4	0	3	0	1	0	5	1	4	0	1	4	2	3	1	4	1	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:44116566C>T	ENST00000259746.9	+	15	1480	c.1297C>T	c.(1297-1299)Cgc>Tgc	p.R433C	TMEM63B_ENST00000323267.6_Missense_Mutation_p.R433C			Q5T3F8	CSCL2_HUMAN	transmembrane protein 63B	433					ion transport (GO:0006811)	integral component of membrane (GO:0016021)	nucleotide binding (GO:0000166)			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|pancreas(2)|prostate(2)|stomach(4)	35	all_cancers(18;1.66e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00309)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0215)			CTGGTGGCTGCGCTGCCTGGT	0.582																																						ENST00000259746.9																			0				breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|pancreas(2)|prostate(2)|stomach(4)	35						c.(1297-1299)Cgc>Tgc		transmembrane protein 63B							341	247	279					6																	44116566		2203	4300	6503	SO:0001583	missense	55362					integral to membrane	nucleotide binding|protein binding	g.chr6:44116566C>T	BC022095	CCDS34461.1	6p21.1	2008-02-05	2005-07-25	2005-07-25	ENSG00000137216	ENSG00000137216			17735	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 110"	C6orf110			Standard	XM_005249211		Approved	DKFZp434P0531, dJ421H19.2	uc003owr.3	Q5T3F8	OTTHUMG00000014757	ENST00000259746.9:c.1297C>T	6.37:g.44116566C>T	ENSP00000259746:p.Arg433Cys					TMEM63B_ENST00000323267.6_Missense_Mutation_p.R433C	p.R433C			Q5T3F8	TM63B_HUMAN	Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0215)		15	1480	+	all_cancers(18;1.66e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00309)|Ovarian(13;0.0273)		433					B9EGU3|Q5T3F9|Q6AHX4|Q6P5A0|Q8N219|Q8NDE1|Q9NSG5	Missense_Mutation	SNP	ENST00000259746.9	37	c.1297C>T	CCDS34461.1	.	.	.	.	.	.	.	.	.	.	C	16.78	3.218030	0.58560	.	.	ENSG00000137216	ENST00000259746;ENST00000323267	T;T	0.38722	1.12;1.12	4.48	4.48	0.54585	Domain of unknown function DUF221 (1);	0.000000	0.85682	D	0.000000	T	0.33352	0.0860	M	0.67397	2.05	0.58432	D	0.999994	B;P	0.52463	0.426;0.953	B;B	0.41236	0.192;0.351	T	0.47071	-0.9145	10	0.87932	D	0	.	16.3354	0.83059	0.0:1.0:0.0:0.0	.	433;433	Q5T3F8;Q5T3F8-2	TM63B_HUMAN;.	C	433	ENSP00000259746:R433C;ENSP00000327154:R433C	ENSP00000259746:R433C	R	+	1	0	TMEM63B	44224544	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.466000	0.60148	2.319000	0.78375	0.591000	0.81541	CGC		0.582	TMEM63B-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040712.2	XM_166410		12	34	0	0	0	1	0	12	34					T	44116566	C	T	44116566	3	4	435	1	0	0	0	0	1	0	0	0	16188	768	27	1	1351	1	TMEM63B	6	44116566	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	493246	44116566	126998501	3181	24106											
CAPN11	11131	broad.mit.edu	37	chr6	44137677	44137677	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ccctctattcatcatggatgGgatttctccaacagacatct	10	13	6	12	0	5	1	2	0	3	1	6	3	5	3	2	2	1	0	2	2	2	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:44137677G>A	ENST00000398776.1	+	4	412	c.374G>A	c.(373-375)gGg>gAg	p.G125E	CAPN11_ENST00000542245.1_Missense_Mutation_p.G125E	NM_007058.3	NP_008989.2	Q9UMQ6	CAN11_HUMAN	calpain 11	125	Calpain catalytic. {ECO:0000255|PROSITE- ProRule:PRU00239}.				proteolysis (GO:0006508)	acrosomal vesicle (GO:0001669)|cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|peptidase activity (GO:0008233)			breast(3)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)	36	all_cancers(18;3.19e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			ATCATGGATGGGATTTCTCCA	0.557																																						ENST00000398776.1																			0				breast(3)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)	36						c.(373-375)gGg>gAg		calpain 11							48	49	49					6																	44137677		1908	4116	6024	SO:0001583	missense	11131				proteolysis	acrosomal vesicle	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity	g.chr6:44137677G>A	AJ242832	CCDS47436.1	6p12	2013-01-10			ENSG00000137225	ENSG00000137225		"EF-hand domain containing"	1478	protein-coding gene	gene with protein product		604822				10409436	Standard	NM_007058		Approved		uc003owt.1	Q9UMQ6	OTTHUMG00000014758	ENST00000398776.1:c.374G>A	6.37:g.44137677G>A	ENSP00000381758:p.Gly125Glu					CAPN11_ENST00000542245.1_Missense_Mutation_p.G125E	p.G125E	NM_007058.3	NP_008989.2	Q9UMQ6	CAN11_HUMAN	Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		4	412	+	all_cancers(18;3.19e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		125			Calpain catalytic.		B2RA64|Q5T3G1|Q8N4R5	Missense_Mutation	SNP	ENST00000398776.1	37	c.374G>A	CCDS47436.1	.	.	.	.	.	.	.	.	.	.	G	19.59	3.855309	0.71719	.	.	ENSG00000137225	ENST00000398776;ENST00000542245;ENST00000532171	D;D;D	0.94330	-3.4;-3.4;-3.4	4.15	3.27	0.37495	Peptidase C2, calpain, catalytic domain (3);	0.161122	0.30260	N	0.010030	D	0.96824	0.8963	H	0.95365	3.66	0.40832	D	0.983598	D	0.67145	0.996	D	0.70016	0.967	D	0.97244	0.9893	10	0.87932	D	0	.	11.1119	0.48237	0.0937:0.0:0.9063:0.0	.	125	Q9UMQ6	CAN11_HUMAN	E	125;125;155	ENSP00000381758:G125E;ENSP00000441078:G125E;ENSP00000432420:G155E	ENSP00000381758:G125E	G	+	2	0	CAPN11	44245655	1.000000	0.71417	0.043000	0.18650	0.057000	0.15508	6.409000	0.73289	1.312000	0.45043	0.655000	0.94253	GGG		0.557	CAPN11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040714.3			3	14	0	0	0	1	0	3	14					A	44137677	G	A	44137677	3	1	435	1	0	0	0	0	1	0	0	0	2624	1232	43	3	388	3	CAPN11	6	44137677	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	21111	44137677	126977390	3182	24107											
CAPN11	11131	broad.mit.edu	37	chr6	44148387	44148387	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttcctacatttgtttaagatAgtggcaggagaggtgagcag	11	12	13	5	0	0	3	0	1	0	2	1	4	1	3	1	3	2	3	1	3	3	6			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:44148387A>G	ENST00000398776.1	+	16	1772	c.1734A>G	c.(1732-1734)atA>atG	p.I578M	CAPN11_ENST00000542245.1_Missense_Mutation_p.I578M	NM_007058.3	NP_008989.2	Q9UMQ6	CAN11_HUMAN	calpain 11	578	Domain IV.				proteolysis (GO:0006508)	acrosomal vesicle (GO:0001669)|cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|peptidase activity (GO:0008233)			breast(3)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)	36	all_cancers(18;3.19e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			TGTTTAAGATAGTGGCAGGAG	0.592																																						ENST00000398776.1																			0				breast(3)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)	36						c.(1732-1734)atA>atG		calpain 11							37	41	40					6																	44148387		1895	4116	6011	SO:0001583	missense	11131				proteolysis	acrosomal vesicle	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity	g.chr6:44148387A>G	AJ242832	CCDS47436.1	6p12	2013-01-10			ENSG00000137225	ENSG00000137225		"EF-hand domain containing"	1478	protein-coding gene	gene with protein product		604822				10409436	Standard	NM_007058		Approved		uc003owt.1	Q9UMQ6	OTTHUMG00000014758	ENST00000398776.1:c.1734A>G	6.37:g.44148387A>G	ENSP00000381758:p.Ile578Met					CAPN11_ENST00000542245.1_Missense_Mutation_p.I578M	p.I578M	NM_007058.3	NP_008989.2	Q9UMQ6	CAN11_HUMAN	Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		16	1772	+	all_cancers(18;3.19e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		578			Domain IV.		B2RA64|Q5T3G1|Q8N4R5	Missense_Mutation	SNP	ENST00000398776.1	37	c.1734A>G	CCDS47436.1	.	.	.	.	.	.	.	.	.	.	a	15.37	2.813841	0.50527	.	.	ENSG00000137225	ENST00000398776;ENST00000542245	T;T	0.29917	1.55;1.55	4.27	-5.43	0.02632	EF-hand-like domain (1);	1.615650	0.03598	N	0.232917	T	0.07052	0.0179	L	0.35414	1.06	0.09310	N	1	P;P	0.42337	0.65;0.776	B;B	0.32393	0.145;0.145	T	0.29366	-1.0014	10	0.87932	D	0	.	7.9726	0.30136	0.1958:0.4025:0.4017:0.0	.	232;578	B4DT90;Q9UMQ6	.;CAN11_HUMAN	M	578	ENSP00000381758:I578M;ENSP00000441078:I578M	ENSP00000381758:I578M	I	+	3	3	CAPN11	44256365	0.001000	0.12720	0.001000	0.08648	0.851000	0.48451	0.122000	0.15687	-1.138000	0.02884	0.404000	0.27445	ATA		0.592	CAPN11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040714.3			17	23	0	0	0	1	0	17	23					G	44148387	A	G	44148387	3	3	435	1	0	0	0	0	1	0	0	0	2624	410	15	4	1796	4	CAPN11	6	44148387	Missense_Mutation	SNP	A	TCGA-XK-AAIW-01A-11D-A41K-08	10710	44148387	126966680	3183	24108											
TCTE1	202500	broad.mit.edu	37	chr6	44250230	44250230	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ctcctcgaggactgggtggtCcagaaggcttcgaattatga	9	10	13	9	2	0	2	0	1	0	1	4	5	2	3	2	4	0	1	2	4	3	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:44250230C>T	ENST00000371505.4	-	4	1035	c.913G>A	c.(913-915)Gac>Aac	p.D305N	TMEM151B_ENST00000438774.2_Intron|TCTE1_ENST00000371503.3_Intron|TCTE1_ENST00000371504.1_Intron|RP11-444E17.6_ENST00000505802.1_Intron	NM_182539.3	NP_872345.2	Q5JU00	TCTE1_HUMAN	t-complex-associated-testis-expressed 1	305										breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			ACTGGGTGGTCCAGAAGGCTT	0.572																																						ENST00000371505.4																			0				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34						c.(913-915)Gac>Aac		t-complex-associated-testis-expressed 1							112	101	105					6																	44250230		2203	4300	6503	SO:0001583	missense	202500							g.chr6:44250230C>T	BC035022	CCDS4910.1	6q21.1	2014-07-18			ENSG00000146221	ENSG00000146221			11693	protein-coding gene	gene with protein product		186975				2568335, 8646886	Standard	NM_182539		Approved	D6S46, MGC33600, FAP155	uc003oxi.2	Q5JU00	OTTHUMG00000014763	ENST00000371505.4:c.913G>A	6.37:g.44250230C>T	ENSP00000360560:p.Asp305Asn					TMEM151B_ENST00000438774.2_Intron|TCTE1_ENST00000371504.1_Intron|TCTE1_ENST00000371503.3_Intron	p.D305N	NM_182539.3	NP_872345.2	Q5JU00	TCTE1_HUMAN	Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		4	1035	-	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		305					B4DX59|Q8IYS6	Missense_Mutation	SNP	ENST00000371505.4	37	c.913G>A	CCDS4910.1	.	.	.	.	.	.	.	.	.	.	C	13.68	2.308207	0.40895	.	.	ENSG00000146221	ENST00000371505	T	0.50548	0.74	5.37	5.37	0.77165	.	0.045565	0.85682	D	0.000000	T	0.30510	0.0767	M	0.63428	1.95	0.80722	D	1	P	0.47106	0.89	B	0.41332	0.354	T	0.10382	-1.0632	10	0.29301	T	0.29	-62.0321	9.9901	0.41865	0.0:0.7876:0.139:0.0735	.	305	Q5JU00	TCTE1_HUMAN	N	305	ENSP00000360560:D305N	ENSP00000360560:D305N	D	-	1	0	TCTE1	44358208	1.000000	0.71417	1.000000	0.80357	0.419000	0.31324	1.972000	0.40540	2.695000	0.91970	0.455000	0.32223	GAC		0.572	TCTE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040736.1	NM_182539		7	51	0	0	0	1	0	7	51					T	44250230	C	T	44250230	3	4	435	1	0	0	0	0	1	0	0	0	15714	855	30	3	600	3	TCTE1	6	44250230	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	101843	44250230	126864837	3184	24109											
AARS2	57505	broad.mit.edu	37	chr6	44272399	44272399	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cacctcttgccctgcccgcaCcaggtagccacggtctgaag	7	7	10	17	2	2	1	0	1	2	0	2	1	2	1	5	2	3	2	5	2	2	2	rs371157508		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:44272399C>T	ENST00000244571.4	-	12	1737	c.1735G>A	c.(1735-1737)Gtg>Atg	p.V579M	TMEM151B_ENST00000438774.2_Intron|RP11-444E17.6_ENST00000505802.1_Intron	NM_020745.3	NP_065796			alanyl-tRNA synthetase 2, mitochondrial											breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(2)|stomach(1)	34	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			CCTGCCCGCACCAGGTAGCCA	0.632											OREG0017473	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000244571.4																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(2)|stomach(1)	34						c.(1735-1737)Gtg>Atg		alanyl-tRNA synthetase 2, mitochondrial	L-Alanine(DB00160)						61	57	59					6																	44272399		2203	4300	6503	SO:0001583	missense	57505				alanyl-tRNA aminoacylation	mitochondrion	alanine-tRNA ligase activity|ATP binding|metal ion binding|tRNA binding	g.chr6:44272399C>T	AB033096	CCDS34464.1	6p21.1	2012-10-26	2012-10-26	2007-02-23	ENSG00000124608	ENSG00000124608	6.1.1.7	"Aminoacyl tRNA synthetases / Class II"	21022	protein-coding gene	gene with protein product	"alanine tRNA ligase 2, mitochondrial"	612035	"alanyl-tRNA synthetase like", "alanyl-tRNA synthetase 2, mitochondrial (putative)"	AARSL		15779907, 21549344	Standard	NM_020745		Approved	KIAA1270, bA444E17.1	uc010jza.1	Q5JTZ9	OTTHUMG00000014766	ENST00000244571.4:c.1735G>A	6.37:g.44272399C>T	ENSP00000244571:p.Val579Met		OREG0017473	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	922	TMEM151B_ENST00000438774.2_Intron	p.V579M	NM_020745.3	NP_065796.1	Q5JTZ9	SYAM_HUMAN	Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		12	1737	-	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		579						Missense_Mutation	SNP	ENST00000244571.4	37	c.1735G>A	CCDS34464.1	.	.	.	.	.	.	.	.	.	.	C	17.95	3.514441	0.64522	.	.	ENSG00000124608	ENST00000244571	T	0.71934	-0.61	5.87	1.53	0.23141	Alanyl-tRNA synthetase, class IIc, core domain (1);Alanyl-tRNA synthetase, class IIc, N-terminal (1);	0.233287	0.41823	D	0.000804	T	0.67097	0.2857	M	0.73598	2.24	0.36496	D	0.868733	P	0.51147	0.942	P	0.55455	0.776	T	0.69018	-0.5256	10	0.66056	D	0.02	-13.0889	6.1834	0.20484	0.2598:0.5552:0.0:0.185	.	579	Q5JTZ9	SYAM_HUMAN	M	579	ENSP00000244571:V579M	ENSP00000244571:V579M	V	-	1	0	AARS2	44380377	0.093000	0.21703	0.941000	0.38009	0.908000	0.53690	0.638000	0.24674	0.785000	0.33685	0.511000	0.50034	GTG		0.632	AARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040741.2	NM_020745		8	30	0	0	0	1	0	8	30					T	44272399	C	T	44272399	3	4	435	1	0	0	0	0	1	0	0	0	20	507	18	3	1266	3	AARS2	6	44272399	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	22169	44272399	126842668	3185	24110											
AARS2	57505	broad.mit.edu	37	chr6	44279880	44279880	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	atgatgggaaaggtctcgacCcacatcttccaggtcgttat	10	11	10	10	2	2	1	0	1	2	0	5	3	3	2	2	3	0	1	2	3	2	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:44279880C>A	ENST00000244571.4	-	2	366	c.364G>T	c.(364-366)Ggt>Tgt	p.G122C	RP11-444E17.6_ENST00000505802.1_Intron	NM_020745.3	NP_065796			alanyl-tRNA synthetase 2, mitochondrial											breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(2)|stomach(1)	34	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			AGGTCTCGACCCACATCTTCC	0.522																																						ENST00000244571.4																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(2)|stomach(1)	34						c.(364-366)Ggt>Tgt		alanyl-tRNA synthetase 2, mitochondrial	L-Alanine(DB00160)						192	153	166					6																	44279880		2203	4300	6503	SO:0001583	missense	57505				alanyl-tRNA aminoacylation	mitochondrion	alanine-tRNA ligase activity|ATP binding|metal ion binding|tRNA binding	g.chr6:44279880C>A	AB033096	CCDS34464.1	6p21.1	2012-10-26	2012-10-26	2007-02-23	ENSG00000124608	ENSG00000124608	6.1.1.7	"Aminoacyl tRNA synthetases / Class II"	21022	protein-coding gene	gene with protein product	"alanine tRNA ligase 2, mitochondrial"	612035	"alanyl-tRNA synthetase like", "alanyl-tRNA synthetase 2, mitochondrial (putative)"	AARSL		15779907, 21549344	Standard	NM_020745		Approved	KIAA1270, bA444E17.1	uc010jza.1	Q5JTZ9	OTTHUMG00000014766	ENST00000244571.4:c.364G>T	6.37:g.44279880C>A	ENSP00000244571:p.Gly122Cys						p.G122C	NM_020745.3	NP_065796.1	Q5JTZ9	SYAM_HUMAN	Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		2	366	-	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		122						Missense_Mutation	SNP	ENST00000244571.4	37	c.364G>T	CCDS34464.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.236857	0.79800	.	.	ENSG00000124608	ENST00000244571	D	0.92299	-3.01	4.9	4.04	0.47022	Alanyl-tRNA synthetase, class IIc, core domain (1);Alanyl-tRNA synthetase, class IIc, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.96904	0.8989	H	0.96833	3.89	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97892	1.0298	10	0.87932	D	0	-21.5236	13.2793	0.60205	0.0:0.9237:0.0:0.0763	.	122	Q5JTZ9	SYAM_HUMAN	C	122	ENSP00000244571:G122C	ENSP00000244571:G122C	G	-	1	0	AARS2	44387858	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	7.651000	0.83577	1.290000	0.44636	0.436000	0.28706	GGT		0.522	AARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040741.2	NM_020745		40	55	1	0	2.24893e-16	1	2.47033e-16	40	55					A	44279880	C	A	44279880	3	1	435	1	0	0	0	0	1	0	0	0	20	623	22	5	2677	5	AARS2	6	44279880	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	7481	44279880	126835187	3186	24111											
SUPT3H	8464	broad.mit.edu	37	chr6	44921078	44921078	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgtgatactgaatgaaggttGcagaaatggcatggctgaag	13	10	14	4	0	0	5	0	4	0	1	0	5	0	5	0	3	2	4	0	3	5	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:44921078G>A	ENST00000371459.1	-	9	935	c.770C>T	c.(769-771)gCa>gTa	p.A257V	SUPT3H_ENST00000371461.2_Missense_Mutation_p.A268V|SUPT3H_ENST00000371458.1_Missense_Mutation_p.A40V|SUPT3H_ENST00000371460.1_Missense_Mutation_p.A268V|SUPT3H_ENST00000306867.5_Missense_Mutation_p.A257V	NM_001261823.1|NM_003599.3	NP_001248752.1|NP_003590.1	O75486	SUPT3_HUMAN	suppressor of Ty 3 homolog (S. cerevisiae)	339				QTR -> HNS (in Ref. 1; AAC70014). {ECO:0000305}.	chromatin organization (GO:0006325)|histone deubiquitination (GO:0016578)|histone H3 acetylation (GO:0043966)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|STAGA complex (GO:0030914)|transcription factor TFTC complex (GO:0033276)	transcription coactivator activity (GO:0003713)			breast(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(1)	12						AATGAAGGTTGCAGAAATGGC	0.403																																						ENST00000371460.1																			0				breast(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(1)	12						c.(802-804)gCa>gTa		suppressor of Ty 3 homolog (S. cerevisiae)							104	98	100					6																	44921078		2203	4300	6503	SO:0001583	missense	8464				histone deubiquitination|histone H3 acetylation|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	STAGA complex|transcription factor TFTC complex	DNA binding|transcription coactivator activity	g.chr6:44921078G>A	AF069734	CCDS34465.1, CCDS34466.1, CCDS75464.1	6p21.1-p12.3	2008-05-15	2001-11-28		ENSG00000196284	ENSG00000196284			11466	protein-coding gene	gene with protein product		602947	"suppressor of Ty (S.cerevisiae) 3 homolog"			9674425, 9726987	Standard	NM_003599		Approved	SPT3, SPT3L	uc003oxp.4	O75486	OTTHUMG00000014773	ENST00000371459.1:c.770C>T	6.37:g.44921078G>A	ENSP00000360514:p.Ala257Val					SUPT3H_ENST00000306867.5_Missense_Mutation_p.A257V|SUPT3H_ENST00000371458.1_Missense_Mutation_p.A40V|SUPT3H_ENST00000371461.2_Missense_Mutation_p.A268V|SUPT3H_ENST00000371459.1_Missense_Mutation_p.A257V	p.A268V	NM_181356.2	NP_852001.1	O75486	SUPT3_HUMAN			11	1120	-			339					A6NKG9|B2R9Q5|O76066|Q5TAV9|Q86VN7	Missense_Mutation	SNP	ENST00000371459.1	37	c.803C>T	CCDS34465.1	.	.	.	.	.	.	.	.	.	.	G	24.7	4.565316	0.86439	.	.	ENSG00000196284	ENST00000371460;ENST00000371459;ENST00000371458;ENST00000306867;ENST00000371461	T;T;T;T;T	0.47177	0.85;0.87;0.85;0.87;0.85	6.04	6.04	0.98038	.	0.202880	0.52532	D	0.000080	T	0.47358	0.1441	M	0.64997	1.995	0.53005	D	0.999969	D;D	0.57257	0.974;0.979	P;B	0.50659	0.647;0.444	T	0.23154	-1.0196	10	0.26408	T	0.33	.	18.7754	0.91910	0.0:0.0:1.0:0.0	.	268;339	O75486-3;O75486	.;SUPT3_HUMAN	V	268;257;40;257;268	ENSP00000360515:A268V;ENSP00000360514:A257V;ENSP00000360513:A40V;ENSP00000306718:A257V;ENSP00000360516:A268V	ENSP00000306718:A257V	A	-	2	0	SUPT3H	45029056	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.441000	0.90313	2.873000	0.98535	0.563000	0.77884	GCA		0.403	SUPT3H-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106911.2	NM_181356		6	12	0	0	0	1	0	6	12					A	44921078	G	A	44921078	3	1	435	1	0	0	0	0	1	0	0	0	15394	1319	46	3	195	3	SUPT3H	6	44921078	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	641198	44921078	126193989	3187	24112											
RUNX2	860	broad.mit.edu	37	chr6	45459744	45459744	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccgcctcagtgatttagggcGcattcctcatcccagtatga	8	11	9	13	2	2	2	2	2	0	0	4	2	4	2	4	1	0	2	4	1	2	4	rs376891808		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:45459744G>A	ENST00000371438.1	+	5	1110	c.752G>A	c.(751-753)cGc>cAc	p.R251H	RUNX2_ENST00000371432.3_Missense_Mutation_p.R237H|RUNX2_ENST00000352853.5_Missense_Mutation_p.R319H|RUNX2_ENST00000359524.5_Missense_Mutation_p.R237H|RUNX2_ENST00000465038.2_Missense_Mutation_p.R251H|RUNX2_ENST00000371436.6_Missense_Mutation_p.R251H|RUNX2_ENST00000576263.1_Missense_Mutation_p.R251H|RUNX2_ENST00000541979.1_Missense_Mutation_p.R319H	NM_001024630.3	NP_001019801.3	Q13950	RUNX2_HUMAN	runt-related transcription factor 2	251	Pro/Ser/Thr-rich.|Required for interaction with FOXO1. {ECO:0000250}.				BMP signaling pathway (GO:0030509)|cell maturation (GO:0048469)|cellular response to BMP stimulus (GO:0071773)|chondrocyte development (GO:0002063)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic forelimb morphogenesis (GO:0035115)|endochondral ossification (GO:0001958)|gene expression (GO:0010467)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription, DNA-templated (GO:0045892)|odontogenesis of dentin-containing tooth (GO:0042475)|ossification (GO:0001503)|osteoblast development (GO:0002076)|osteoblast differentiation (GO:0001649)|osteoblast fate commitment (GO:0002051)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus (GO:1901522)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|regulation of odontogenesis of dentin-containing tooth (GO:0042487)|stem cell differentiation (GO:0048863)|T cell differentiation (GO:0030217)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						GATTTAGGGCGCATTCCTCAT	0.473																																						ENST00000371438.1																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						c.(751-753)cGc>cAc		runt-related transcription factor 2		G	HIS/ARG,HIS/ARG,HIS/ARG	0,4406		0,0,2203	429	333	365		752,752,710	6	1	6		365	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	RUNX2	NM_001015051.3,NM_001024630.3,NM_004348.3	29,29,29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging	251/500,251/522,237/508	45459744	1,13005	2203	4300	6503	SO:0001583	missense	860				negative regulation of transcription, DNA-dependent|osteoblast differentiation|positive regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr6:45459744G>A	AF001450	CCDS43467.1, CCDS43468.1, CCDS43467.2, CCDS43468.2	6p21	2010-08-20			ENSG00000124813	ENSG00000124813			10472	protein-coding gene	gene with protein product		600211		CCD, CBFA1, CCD1		7835892	Standard	NM_001024630		Approved	AML3, PEBP2A1, PEBP2aA1	uc011dvx.2	Q13950	OTTHUMG00000014774	ENST00000371438.1:c.752G>A	6.37:g.45459744G>A	ENSP00000360493:p.Arg251His					RUNX2_ENST00000359524.5_Missense_Mutation_p.R237H|RUNX2_ENST00000371432.3_Missense_Mutation_p.R237H|RUNX2_ENST00000576263.1_Missense_Mutation_p.R251H|RUNX2_ENST00000352853.5_Missense_Mutation_p.R319H|RUNX2_ENST00000465038.2_Missense_Mutation_p.R251H|RUNX2_ENST00000541979.1_Missense_Mutation_p.R319H|RUNX2_ENST00000371436.6_Missense_Mutation_p.R251H	p.R251H	NM_001024630.3	NP_001019801.3	Q13950	RUNX2_HUMAN			5	1110	+			251			Pro/Ser/Thr-rich.		O14614|O14615|O95181	Missense_Mutation	SNP	ENST00000371438.1	37	c.752G>A	CCDS43467.2	.	.	.	.	.	.	.	.	.	.	G	28.4	4.914917	0.92178	0.0	1.16E-4	ENSG00000124813	ENST00000465038;ENST00000352853;ENST00000541979;ENST00000371438;ENST00000371436;ENST00000359524;ENST00000371432	D;D;D;D;D;D;D	0.97066	-4.22;-4.23;-4.23;-4.22;-4.22;-4.22;-4.22	6.03	6.03	0.97812	.	0.000000	0.85682	D	0.000000	D	0.97736	0.9257	L	0.49640	1.575	0.80722	D	1	D;D;P	0.89917	1.0;1.0;0.939	D;D;P	0.83275	0.996;0.978;0.572	D	0.96883	0.9647	10	0.41790	T	0.15	-8.9331	20.5666	0.99351	0.0:0.0:1.0:0.0	.	319;251;237	F6RGB9;Q13950;Q13950-2	.;RUNX2_HUMAN;.	H	251;319;319;251;251;237;237	ENSP00000420707:R251H;ENSP00000319087:R319H;ENSP00000446290:R319H;ENSP00000360493:R251H;ENSP00000360491:R251H;ENSP00000352514:R237H;ENSP00000360486:R237H	ENSP00000319087:R319H	R	+	2	0	RUNX2	45567722	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.076000	0.94009	2.854000	0.98071	0.655000	0.94253	CGC		0.473	RUNX2-003	KNOWN	not_organism_supported|upstream_ATG|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040755.2	NM_004348		52	100	0	0	0	1	0	52	100					A	45459744	G	A	45459744	3	1	435	1	0	0	0	0	1	0	0	0	13748	1087	38	1	786	1	RUNX2	6	45459744	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	538666	45459744	125655323	3188	24113											
ENPP5	59084	broad.mit.edu	37	chr6	46135419	46135419	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tgtcaggtcccaaatggtggCccatgtcatcagggtcttcc	7	11	11	12	0	4	0	3	0	1	0	6	0	6	0	3	4	0	0	3	4	1	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:46135419C>T	ENST00000371383.2	-	3	841	c.581G>A	c.(580-582)gGc>gAc	p.G194D	ENPP5_ENST00000492313.1_5'Flank|ENPP5_ENST00000230565.3_Missense_Mutation_p.G194D					ectonucleotide pyrophosphatase/phosphodiesterase 5 (putative)											endometrium(3)|kidney(1)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	12						CAAATGGTGGCCCATGTCATC	0.413																																						ENST00000371383.2																			0				endometrium(3)|kidney(1)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	12						c.(580-582)gGc>gAc		ectonucleotide pyrophosphatase/phosphodiesterase 5 (putative)							59	60	60					6																	46135419		2203	4300	6503	SO:0001583	missense	59084					extracellular region|integral to membrane	hydrolase activity	g.chr6:46135419C>T	AL035701	CCDS4915.1	6p21.1-p11.2	2010-06-24	2010-06-24		ENSG00000112796	ENSG00000112796			13717	protein-coding gene	gene with protein product						11027689	Standard	XM_005249259		Approved		uc003oxz.1	Q9UJA9	OTTHUMG00000014781	ENST00000371383.2:c.581G>A	6.37:g.46135419C>T	ENSP00000360436:p.Gly194Asp					ENPP5_ENST00000230565.3_Missense_Mutation_p.G194D	p.G194D			Q9UJA9	ENPP5_HUMAN			3	841	-			194						Missense_Mutation	SNP	ENST00000371383.2	37	c.581G>A	CCDS4915.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.158696	0.78226	.	.	ENSG00000112796	ENST00000371383;ENST00000230565	T;T	0.78707	-1.2;-1.2	5.33	4.46	0.54185	Alkaline phosphatase-like, alpha/beta/alpha (1);Alkaline-phosphatase-like, core domain (1);	0.000000	0.85682	D	0.000000	D	0.91486	0.7312	H	0.97918	4.105	0.54753	D	0.999982	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.94943	0.8093	10	0.87932	D	0	-9.4107	16.3659	0.83321	0.0:0.868:0.132:0.0	.	194;194	A8K9X7;Q9UJA9	.;ENPP5_HUMAN	D	194	ENSP00000360436:G194D;ENSP00000230565:G194D	ENSP00000230565:G194D	G	-	2	0	ENPP5	46243378	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	4.645000	0.61404	1.369000	0.46134	0.655000	0.94253	GGC		0.413	ENPP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040779.2			26	43	0	0	0	1	0	26	43					T	46135419	C	T	46135419	3	4	435	1	0	0	0	0	1	0	0	0	5133	739	26	3	864	3	ENPP5	6	46135419	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	675675	46135419	124979648	3189	24114											
TDRD6	221400	broad.mit.edu	37	chr6	46656678	46656678	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	attcactgccagctccgcagCgtctcgcaggagatccaccg	8	7	10	16	4	2	1	1	0	1	1	5	2	4	1	4	1	3	3	4	1	0	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:46656678C>T	ENST00000316081.6	+	1	813	c.813C>T	c.(811-813)agC>agT	p.S271S	RP11-446F17.3_ENST00000571590.1_RNA|RP11-446F17.3_ENST00000422284.2_RNA|RP11-446F17.3_ENST00000434329.2_RNA|TDRD6_ENST00000544460.1_Silent_p.S271S	NM_001010870.2	NP_001010870.1	O60522	TDRD6_HUMAN	tudor domain containing 6	271					germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|P granule (GO:0043186)				NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80			Lung(136;0.192)			AGCTCCGCAGCGTCTCGCAGG	0.627																																						ENST00000544460.1																			0				NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						c.(811-813)agC>agT		tudor domain containing 6							31	27	29					6																	46656678		2202	4300	6502	SO:0001819	synonymous_variant	221400				cell differentiation|multicellular organismal development|spermatogenesis	chromatoid body	nucleic acid binding	g.chr6:46656678C>T	AF039442	CCDS34470.1, CCDS55017.1	6p12.3	2013-01-23			ENSG00000180113	ENSG00000180113		"Tudor domain containing"	21339	protein-coding gene	gene with protein product	"cancer/testis antigen 41.2", "spermatogenesis associated 36"	611200				9610721	Standard	NM_001010870		Approved	NY-CO-45, bA446F17.4, CT41.2, SPATA36	uc003oyj.3	O60522	OTTHUMG00000014788	ENST00000316081.6:c.813C>T	6.37:g.46656678C>T						TDRD6_ENST00000316081.6_Silent_p.S271S	p.S271S	NM_001168359.1	NP_001161831.1	O60522	TDRD6_HUMAN	Lung(136;0.192)		1	1067	+			271					B3KWU2|F5H5M3|Q5HYB1|Q5VTS4|Q6ZMX5	Silent	SNP	ENST00000316081.6	37	c.813C>T	CCDS34470.1																																																																																				0.627	TDRD6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040800.1	XM_166443		4	6	0	0	0	1	0	4	6					T	46656678	C	T	46656678	2	4	435	1	0	0	0	0	0	0	0	1	15731	767	27	1		1	TDRD6	6	46656678	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	521259	46656678	124458389	3190	24115											
TDRD6	221400	broad.mit.edu	37	chr6	46660982	46660982	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	taagactggtattaaaagtgCtcttccctatgaaaatattg	14	14	7	6	0	1	2	0	1	1	1	2	2	2	2	1	1	1	2	1	1	8	7			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:46660982C>A	ENST00000316081.6	+	1	5117	c.5117C>A	c.(5116-5118)gCt>gAt	p.A1706D	TDRD6_ENST00000544460.1_Missense_Mutation_p.A1706D	NM_001010870.2	NP_001010870.1	O60522	TDRD6_HUMAN	tudor domain containing 6	1706					germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|P granule (GO:0043186)				NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80			Lung(136;0.192)			ATTAAAAGTGCTCTTCCCTAT	0.318																																						ENST00000544460.1																			0				NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						c.(5116-5118)gCt>gAt		tudor domain containing 6							30	35	33					6																	46660982		2168	4285	6453	SO:0001583	missense	221400				cell differentiation|multicellular organismal development|spermatogenesis	chromatoid body	nucleic acid binding	g.chr6:46660982C>A	AF039442	CCDS34470.1, CCDS55017.1	6p12.3	2013-01-23			ENSG00000180113	ENSG00000180113		"Tudor domain containing"	21339	protein-coding gene	gene with protein product	"cancer/testis antigen 41.2", "spermatogenesis associated 36"	611200				9610721	Standard	NM_001010870		Approved	NY-CO-45, bA446F17.4, CT41.2, SPATA36	uc003oyj.3	O60522	OTTHUMG00000014788	ENST00000316081.6:c.5117C>A	6.37:g.46660982C>A	ENSP00000346065:p.Ala1706Asp					TDRD6_ENST00000316081.6_Missense_Mutation_p.A1706D	p.A1706D	NM_001168359.1	NP_001161831.1	O60522	TDRD6_HUMAN	Lung(136;0.192)		1	5371	+			1706					B3KWU2|F5H5M3|Q5HYB1|Q5VTS4|Q6ZMX5	Missense_Mutation	SNP	ENST00000316081.6	37	c.5117C>A	CCDS34470.1	.	.	.	.	.	.	.	.	.	.	C	0.463	-0.888018	0.02511	.	.	ENSG00000180113	ENST00000544460;ENST00000316081	T;T	0.11712	2.76;2.75	5.36	0.044	0.14224	.	1.260040	0.05149	N	0.495605	T	0.00608	0.0020	N	0.00926	-1.1	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.41734	-0.9492	10	0.06365	T	0.9	-9.9272	1.1738	0.01831	0.5251:0.1618:0.1699:0.1432	.	1706;1706	F5H5M3;O60522	.;TDRD6_HUMAN	D	1706	ENSP00000443299:A1706D;ENSP00000346065:A1706D	ENSP00000346065:A1706D	A	+	2	0	TDRD6	46768941	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.463000	0.21972	-0.121000	0.11787	-1.193000	0.01689	GCT		0.318	TDRD6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040800.1	XM_166443		17	51	1	0	1.99824e-07	1	2.09433e-07	17	51					A	46660982	C	A	46660982	3	1	435	1	0	0	0	0	1	0	0	0	15731	797	28	5	5119	5	TDRD6	6	46660982	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	4304	46660982	124454085	3191	24116											
TDRD6	221400	broad.mit.edu	37	chr6	46661673	46661673	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aaagcacaggaatccatgtgTactgaggacatgagaaagtc	16	7	11	7	0	0	2	0	2	0	1	2	5	1	4	1	2	2	2	1	2	4	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:46661673T>C	ENST00000316081.6	+	1	5808	c.5808T>C	c.(5806-5808)tgT>tgC	p.C1936C	TDRD6_ENST00000544460.1_Silent_p.C1936C	NM_001010870.2	NP_001010870.1	O60522	TDRD6_HUMAN	tudor domain containing 6	1936					germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|P granule (GO:0043186)				NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80			Lung(136;0.192)			AATCCATGTGTACTGAGGACA	0.433																																						ENST00000544460.1																			0				NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						c.(5806-5808)tgT>tgC		tudor domain containing 6							154	148	150					6																	46661673		2203	4300	6503	SO:0001819	synonymous_variant	221400				cell differentiation|multicellular organismal development|spermatogenesis	chromatoid body	nucleic acid binding	g.chr6:46661673T>C	AF039442	CCDS34470.1, CCDS55017.1	6p12.3	2013-01-23			ENSG00000180113	ENSG00000180113		"Tudor domain containing"	21339	protein-coding gene	gene with protein product	"cancer/testis antigen 41.2", "spermatogenesis associated 36"	611200				9610721	Standard	NM_001010870		Approved	NY-CO-45, bA446F17.4, CT41.2, SPATA36	uc003oyj.3	O60522	OTTHUMG00000014788	ENST00000316081.6:c.5808T>C	6.37:g.46661673T>C						TDRD6_ENST00000316081.6_Silent_p.C1936C	p.C1936C	NM_001168359.1	NP_001161831.1	O60522	TDRD6_HUMAN	Lung(136;0.192)		1	6062	+			1936					B3KWU2|F5H5M3|Q5HYB1|Q5VTS4|Q6ZMX5	Silent	SNP	ENST00000316081.6	37	c.5808T>C	CCDS34470.1																																																																																				0.433	TDRD6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040800.1	XM_166443		19	60	0	0	0	1	0	19	60					C	46661673	T	C	46661673	2	2	435	1	0	0	0	0	0	0	0	1	15731	1644	57	4		4	TDRD6	6	46661673	Silent	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	691	46661673	124453394	3192	24117											
GPR116	221395	broad.mit.edu	37	chr6	46821804	46821804	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tctggggtggaaacattataCgttcctgaaaaacagagcag	14	9	11	7	1	1	2	0	1	1	1	2	3	2	3	1	3	4	2	1	3	5	3	rs549945311		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:46821804C>T	ENST00000283296.7	-	21	4254	c.3966G>A	c.(3964-3966)acG>acA	p.T1322T	GPR116_ENST00000362015.4_Silent_p.T1302T|GPR116_ENST00000456426.2_Silent_p.T1180T|GPR116_ENST00000545669.1_3'UTR|GPR116_ENST00000265417.7_Silent_p.T1322T	NM_001098518.1	NP_001091988.1	Q8IZF2	GP116_HUMAN	G protein-coupled receptor 116	1322					energy reserve metabolic process (GO:0006112)|fat cell differentiation (GO:0045444)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|neuropeptide signaling pathway (GO:0007218)|regulation of lipid metabolic process (GO:0019216)|surfactant homeostasis (GO:0043129)	cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59			Lung(136;0.192)			AAACATTATACGTTCCTGAAA	0.493													C|||	1	0.000199681	0	0	5008	,	,		18445	0.001		0	False		,,,				2504	0				NSCLC(59;410 1274 8751 36715 50546)	ENST00000283296.7																			0				breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59						c.(3964-3966)acG>acA		G protein-coupled receptor 116							89	91	90					6																	46821804		2203	4300	6503	SO:0001819	synonymous_variant	221395				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr6:46821804C>T	AB018301	CCDS4919.1	6p12.3	2014-08-08			ENSG00000069122	ENSG00000069122		"-", "GPCR / Class B : Orphans", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	19030	protein-coding gene	gene with protein product						12435584	Standard	NM_001098518		Approved	DKFZp564O1923, KIAA0758	uc003oyo.3	Q8IZF2	OTTHUMG00000014793	ENST00000283296.7:c.3966G>A	6.37:g.46821804C>T						GPR116_ENST00000545669.1_3'UTR|GPR116_ENST00000265417.7_Silent_p.T1322T|GPR116_ENST00000456426.2_Silent_p.T1180T|GPR116_ENST00000362015.4_Silent_p.T1302T	p.T1322T	NM_001098518.1	NP_001091988.1	Q8IZF2	GP116_HUMAN	Lung(136;0.192)		21	4254	-			1322					O94858|Q5TF06|Q6RGN2|Q86SP0|Q9Y3Z2	Silent	SNP	ENST00000283296.7	37	c.3966G>A	CCDS4919.1																																																																																				0.493	GPR116-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040806.2	NM_015234		20	25	0	0	0	1	0	20	25					T	46821804	C	T	46821804	2	4	435	1	0	0	0	0	0	0	0	1	6633	523	19	1		1	GPR116	6	46821804	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	160131	46821804	124293263	3193	24118											
GPR116	221395	broad.mit.edu	37	chr6	46830832	46830832	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tcctggcatgtgatgttttcCcctgtgttggaaacattgaa	8	15	10	8	0	0	2	0	2	0	0	2	3	2	3	3	2	1	3	3	2	2	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:46830832C>T	ENST00000283296.7	-	15	2280	c.1992G>A	c.(1990-1992)ggG>ggA	p.G664G	GPR116_ENST00000362015.4_Splice_Site_p.G664G|GPR116_ENST00000456426.2_Splice_Site_p.G522G|GPR116_ENST00000545669.1_Splice_Site_p.G93G|GPR116_ENST00000265417.7_Splice_Site_p.G664G	NM_001098518.1	NP_001091988.1	Q8IZF2	GP116_HUMAN	G protein-coupled receptor 116	664					energy reserve metabolic process (GO:0006112)|fat cell differentiation (GO:0045444)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|neuropeptide signaling pathway (GO:0007218)|regulation of lipid metabolic process (GO:0019216)|surfactant homeostasis (GO:0043129)	cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59			Lung(136;0.192)			TGATGTTTTCCCCTGTGTTGG	0.453																																					NSCLC(59;410 1274 8751 36715 50546)	ENST00000283296.7																			0				breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59						c.e15-1		G protein-coupled receptor 116							51	48	49					6																	46830832		2203	4300	6503	SO:0001630	splice_region_variant	221395				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr6:46830832C>T	AB018301	CCDS4919.1	6p12.3	2014-08-08			ENSG00000069122	ENSG00000069122		"-", "GPCR / Class B : Orphans", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	19030	protein-coding gene	gene with protein product						12435584	Standard	NM_001098518		Approved	DKFZp564O1923, KIAA0758	uc003oyo.3	Q8IZF2	OTTHUMG00000014793	ENST00000283296.7:c.1991-1G>A	6.37:g.46830832C>T						GPR116_ENST00000545669.1_Splice_Site_p.G93_splice|GPR116_ENST00000265417.7_Splice_Site_p.G664_splice|GPR116_ENST00000456426.2_Splice_Site_p.G522_splice|GPR116_ENST00000362015.4_Splice_Site_p.G664_splice	p.G664_splice	NM_001098518.1	NP_001091988.1	Q8IZF2	GP116_HUMAN	Lung(136;0.192)		15	2280	-			664					O94858|Q5TF06|Q6RGN2|Q86SP0|Q9Y3Z2	Splice_Site	SNP	ENST00000283296.7	37	c.1990_splice	CCDS4919.1																																																																																				0.453	GPR116-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040806.2	NM_015234	Silent	24	35	0	0	0	1	0	24	35					T	46830832	C	T	46830832	5	4	435	1	0	0	0	0	0	0	1	0	6633	637	22	3	2076	3	GPR116	6	46830832	Splice_Site	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	9028	46830832	124284235	3194	24119											
GPR116	221395	broad.mit.edu	37	chr6	46851338	46851338	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	taggacctatagagggcggaGgaagtgttcatgaggtcttc	10	10	15	6	1	2	2	1	1	1	1	3	5	2	5	1	5	0	1	1	5	4	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:46851338G>T	ENST00000283296.7	-	6	858	c.570C>A	c.(568-570)tcC>tcA	p.S190S	GPR116_ENST00000362015.4_Silent_p.S190S|GPR116_ENST00000478711.1_5'Flank|GPR116_ENST00000456426.2_Silent_p.S190S|GPR116_ENST00000265417.7_Silent_p.S190S	NM_001098518.1	NP_001091988.1	Q8IZF2	GP116_HUMAN	G protein-coupled receptor 116	190	SEA. {ECO:0000255|PROSITE- ProRule:PRU00188}.				energy reserve metabolic process (GO:0006112)|fat cell differentiation (GO:0045444)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|neuropeptide signaling pathway (GO:0007218)|regulation of lipid metabolic process (GO:0019216)|surfactant homeostasis (GO:0043129)	cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59			Lung(136;0.192)			AGAGGGCGGAGGAAGTGTTCA	0.423																																					NSCLC(59;410 1274 8751 36715 50546)	ENST00000283296.7																			0				breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59						c.(568-570)tcC>tcA		G protein-coupled receptor 116							103	94	97					6																	46851338		2203	4300	6503	SO:0001819	synonymous_variant	221395				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr6:46851338G>T	AB018301	CCDS4919.1	6p12.3	2014-08-08			ENSG00000069122	ENSG00000069122		"-", "GPCR / Class B : Orphans", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	19030	protein-coding gene	gene with protein product						12435584	Standard	NM_001098518		Approved	DKFZp564O1923, KIAA0758	uc003oyo.3	Q8IZF2	OTTHUMG00000014793	ENST00000283296.7:c.570C>A	6.37:g.46851338G>T						GPR116_ENST00000265417.7_Silent_p.S190S|GPR116_ENST00000456426.2_Silent_p.S190S|GPR116_ENST00000362015.4_Silent_p.S190S	p.S190S	NM_001098518.1	NP_001091988.1	Q8IZF2	GP116_HUMAN	Lung(136;0.192)		6	858	-			190			SEA.		O94858|Q5TF06|Q6RGN2|Q86SP0|Q9Y3Z2	Silent	SNP	ENST00000283296.7	37	c.570C>A	CCDS4919.1																																																																																				0.423	GPR116-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040806.2	NM_015234		11	29	1	0	0.000673444	1	0.000685014	11	29					T	46851338	G	T	46851338	2	4	435	1	0	0	0	0	0	0	0	1	6633	987	35	5		5	GPR116	6	46851338	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	20506	46851338	124263729	3195	24120											
TNFRSF21	27242	broad.mit.edu	37	chr6	47200701	47200701	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caagtcacaggggtccaggcGtacctgccgcaacactgtgt	9	7	12	13	2	1	0	1	0	0	0	2	0	2	0	3	3	3	2	3	3	3	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:47200701G>A	ENST00000296861.2	-	6	2161	c.1768C>T	c.(1768-1770)Cgc>Tgc	p.R590C		NM_014452.3	NP_055267.1	O75509	TNR21_HUMAN	tumor necrosis factor receptor superfamily, member 21	590					adaptive immune response (GO:0002250)|apoptotic process (GO:0006915)|B cell apoptotic process (GO:0001783)|cellular lipid metabolic process (GO:0044255)|cellular response to tumor necrosis factor (GO:0071356)|humoral immune response (GO:0006959)|myelination (GO:0042552)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of interleukin-10 secretion (GO:2001180)|negative regulation of interleukin-13 secretion (GO:2000666)|negative regulation of interleukin-5 secretion (GO:2000663)|negative regulation of myelination (GO:0031642)|negative regulation of T cell proliferation (GO:0042130)|neuron apoptotic process (GO:0051402)|oligodendrocyte apoptotic process (GO:0097252)|regulation of oligodendrocyte differentiation (GO:0048713)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)	axon (GO:0030424)|integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|lung(7)|pancreas(1)|skin(2)	21			Lung(136;0.189)			GGGTCCAGGCGTACCTGCCGC	0.532																																						ENST00000296861.2																			0				breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|lung(7)|pancreas(1)|skin(2)	21						c.(1768-1770)Cgc>Tgc		tumor necrosis factor receptor superfamily, member 21							65	65	65					6																	47200701		2203	4300	6503	SO:0001583	missense	27242				cellular lipid metabolic process	cytoplasm|integral to membrane	protein binding|receptor activity	g.chr6:47200701G>A	AF068868	CCDS4921.1	6p21.1	2011-08-11			ENSG00000146072	ENSG00000146072		"Tumor necrosis factor receptor superfamily", "CD molecules"	13469	protein-coding gene	gene with protein product	"death receptor 6"	605732				9714541	Standard	NM_014452		Approved	DR6, CD358	uc003oyv.3	O75509	OTTHUMG00000014796	ENST00000296861.2:c.1768C>T	6.37:g.47200701G>A	ENSP00000296861:p.Arg590Cys						p.R590C	NM_014452.3	NP_055267.1	O75509	TNR21_HUMAN	Lung(136;0.189)		6	2161	-			590					B2RDI9|Q0D2P5|Q96D86	Missense_Mutation	SNP	ENST00000296861.2	37	c.1768C>T	CCDS4921.1	.	.	.	.	.	.	.	.	.	.	G	24.8	4.573826	0.86542	.	.	ENSG00000146072	ENST00000296861;ENST00000419206	T	0.70986	-0.53	5.84	5.84	0.93424	.	0.046611	0.85682	D	0.000000	T	0.72301	0.3443	L	0.27053	0.805	0.80722	D	1	D	0.89917	1.0	D	0.73708	0.981	T	0.76143	-0.3067	10	0.87932	D	0	.	18.3151	0.90218	0.0:0.0:1.0:0.0	.	590	O75509	TNR21_HUMAN	C	590;279	ENSP00000296861:R590C	ENSP00000296861:R590C	R	-	1	0	TNFRSF21	47308660	1.000000	0.71417	0.995000	0.50966	0.999000	0.98932	9.869000	0.99810	2.765000	0.95021	0.655000	0.94253	CGC		0.532	TNFRSF21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040814.1	NM_014452		27	41	0	0	0	1	0	27	41					A	47200701	G	A	47200701	3	1	435	1	0	0	0	0	1	0	0	0	16292	1145	40	1	203	1	TNFRSF21	6	47200701	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	349363	47200701	123914366	3196	24121											
TNFRSF21	27242	broad.mit.edu	37	chr6	47251793	47251793	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggggcccctttttcagagtcCtcgagcttttccggatactg	5	13	11	12	2	1	1	1	0	0	1	4	3	3	2	4	3	2	1	4	3	1	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:47251793C>A	ENST00000296861.2	-	3	1517	c.1124G>T	c.(1123-1125)aGg>aTg	p.R375M		NM_014452.3	NP_055267.1	O75509	TNR21_HUMAN	tumor necrosis factor receptor superfamily, member 21	375					adaptive immune response (GO:0002250)|apoptotic process (GO:0006915)|B cell apoptotic process (GO:0001783)|cellular lipid metabolic process (GO:0044255)|cellular response to tumor necrosis factor (GO:0071356)|humoral immune response (GO:0006959)|myelination (GO:0042552)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of interleukin-10 secretion (GO:2001180)|negative regulation of interleukin-13 secretion (GO:2000666)|negative regulation of interleukin-5 secretion (GO:2000663)|negative regulation of myelination (GO:0031642)|negative regulation of T cell proliferation (GO:0042130)|neuron apoptotic process (GO:0051402)|oligodendrocyte apoptotic process (GO:0097252)|regulation of oligodendrocyte differentiation (GO:0048713)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)	axon (GO:0030424)|integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|lung(7)|pancreas(1)|skin(2)	21			Lung(136;0.189)			TTTCAGAGTCCTCGAGCTTTT	0.512																																						ENST00000296861.2																			0				breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|lung(7)|pancreas(1)|skin(2)	21						c.(1123-1125)aGg>aTg		tumor necrosis factor receptor superfamily, member 21							111	114	113					6																	47251793		2203	4300	6503	SO:0001583	missense	27242				cellular lipid metabolic process	cytoplasm|integral to membrane	protein binding|receptor activity	g.chr6:47251793C>A	AF068868	CCDS4921.1	6p21.1	2011-08-11			ENSG00000146072	ENSG00000146072		"Tumor necrosis factor receptor superfamily", "CD molecules"	13469	protein-coding gene	gene with protein product	"death receptor 6"	605732				9714541	Standard	NM_014452		Approved	DR6, CD358	uc003oyv.3	O75509	OTTHUMG00000014796	ENST00000296861.2:c.1124G>T	6.37:g.47251793C>A	ENSP00000296861:p.Arg375Met						p.R375M	NM_014452.3	NP_055267.1	O75509	TNR21_HUMAN	Lung(136;0.189)		3	1517	-			375					B2RDI9|Q0D2P5|Q96D86	Missense_Mutation	SNP	ENST00000296861.2	37	c.1124G>T	CCDS4921.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.383523	0.82792	.	.	ENSG00000146072	ENST00000296861;ENST00000419206	T	0.70516	-0.49	6.17	6.17	0.99709	.	0.043932	0.85682	D	0.000000	T	0.77336	0.4115	L	0.59436	1.845	0.54753	D	0.999987	D	0.89917	1.0	D	0.70935	0.971	T	0.78807	-0.2059	10	0.87932	D	0	.	13.9957	0.64397	0.0:0.9315:0.0:0.0685	.	375	O75509	TNR21_HUMAN	M	375;64	ENSP00000296861:R375M	ENSP00000296861:R375M	R	-	2	0	TNFRSF21	47359752	0.998000	0.40836	0.980000	0.43619	0.983000	0.72400	4.470000	0.60175	2.941000	0.99782	0.655000	0.94253	AGG		0.512	TNFRSF21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040814.1	NM_014452		4	80	1	0	0.014758	1	0.0148771	4	80					A	47251793	C	A	47251793	3	1	435	1	0	0	0	0	1	0	0	0	16292	681	24	5	859	5	TNFRSF21	6	47251793	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	51092	47251793	123863274	3197	24122											
TNFRSF21	27242	broad.mit.edu	37	chr6	47253964	47253964	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctgtccctttcttccgcacaCcccaacccacaggacacacc	9	7	4	21	1	1	0	0	0	1	0	3	1	3	1	6	1	1	1	6	1	1	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:47253964C>A	ENST00000296861.2	-	2	857	c.464G>T	c.(463-465)gGt>gTt	p.G155V		NM_014452.3	NP_055267.1	O75509	TNR21_HUMAN	tumor necrosis factor receptor superfamily, member 21	155					adaptive immune response (GO:0002250)|apoptotic process (GO:0006915)|B cell apoptotic process (GO:0001783)|cellular lipid metabolic process (GO:0044255)|cellular response to tumor necrosis factor (GO:0071356)|humoral immune response (GO:0006959)|myelination (GO:0042552)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of interleukin-10 secretion (GO:2001180)|negative regulation of interleukin-13 secretion (GO:2000666)|negative regulation of interleukin-5 secretion (GO:2000663)|negative regulation of myelination (GO:0031642)|negative regulation of T cell proliferation (GO:0042130)|neuron apoptotic process (GO:0051402)|oligodendrocyte apoptotic process (GO:0097252)|regulation of oligodendrocyte differentiation (GO:0048713)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)	axon (GO:0030424)|integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|lung(7)|pancreas(1)|skin(2)	21			Lung(136;0.189)			CTTCCGCACACCCCAACCCAC	0.552																																						ENST00000296861.2																			0				breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|lung(7)|pancreas(1)|skin(2)	21						c.(463-465)gGt>gTt		tumor necrosis factor receptor superfamily, member 21							256	198	218					6																	47253964		2203	4300	6503	SO:0001583	missense	27242				cellular lipid metabolic process	cytoplasm|integral to membrane	protein binding|receptor activity	g.chr6:47253964C>A	AF068868	CCDS4921.1	6p21.1	2011-08-11			ENSG00000146072	ENSG00000146072		"Tumor necrosis factor receptor superfamily", "CD molecules"	13469	protein-coding gene	gene with protein product	"death receptor 6"	605732				9714541	Standard	NM_014452		Approved	DR6, CD358	uc003oyv.3	O75509	OTTHUMG00000014796	ENST00000296861.2:c.464G>T	6.37:g.47253964C>A	ENSP00000296861:p.Gly155Val						p.G155V	NM_014452.3	NP_055267.1	O75509	TNR21_HUMAN	Lung(136;0.189)		2	857	-			155					B2RDI9|Q0D2P5|Q96D86	Missense_Mutation	SNP	ENST00000296861.2	37	c.464G>T	CCDS4921.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.245052	0.79912	.	.	ENSG00000146072	ENST00000296861	T	0.72394	-0.65	5.68	4.82	0.62117	TNFR/CD27/30/40/95 cysteine-rich region (1);	0.044680	0.85682	D	0.000000	T	0.77552	0.4147	M	0.64404	1.975	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	T	0.81538	-0.0887	10	0.87932	D	0	.	15.041	0.71791	0.0:0.9315:0.0:0.0685	.	155	O75509	TNR21_HUMAN	V	155	ENSP00000296861:G155V	ENSP00000296861:G155V	G	-	2	0	TNFRSF21	47361923	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.221000	0.78016	1.555000	0.49500	0.591000	0.81541	GGT		0.552	TNFRSF21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040814.1	NM_014452		30	47	1	0	2.61193e-14	1	2.84738e-14	30	47					A	47253964	C	A	47253964	3	1	435	1	0	0	0	0	1	0	0	0	16292	507	18	5	1523	5	TNFRSF21	6	47253964	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	2171	47253964	123861103	3198	24123											
CD2AP	23607	broad.mit.edu	37	chr6	47512358	47512358	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttagagaccaagaagcgtcaGtgtaaagttctttttgagta	13	13	10	5	1	2	3	1	1	1	2	2	4	2	3	1	0	1	3	1	0	6	6			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:47512358G>T	ENST00000359314.5	+	4	792	c.336G>T	c.(334-336)caG>caT	p.Q112H		NM_012120.2	NP_036252.1	Q9Y5K6	CD2AP_HUMAN	CD2-associated protein	112	Interaction with ANLN and localization to the midbody.|SH3 2. {ECO:0000255|PROSITE- ProRule:PRU00192}.				mitotic nuclear division (GO:0007067)|negative regulation of transforming growth factor beta1 production (GO:0032911)|positive regulation of protein localization to nucleus (GO:1900182)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein complex assembly (GO:0006461)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of receptor-mediated endocytosis (GO:0048259)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|substrate-dependent cell migration, cell extension (GO:0006930)|vesicle organization (GO:0016050)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	SH3 domain binding (GO:0017124)|structural constituent of cytoskeleton (GO:0005200)			kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	20			Lung(136;0.105)|LUSC - Lung squamous cell carcinoma(51;0.138)			AGAAGCGTCAGTGTAAAGTTC	0.308																																						ENST00000359314.5																			0				kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	20						c.(334-336)caG>caT		CD2-associated protein							104	105	105					6																	47512358		2203	4297	6500	SO:0001583	missense	23607				cell division|mitosis|protein complex assembly|signal transduction|substrate-dependent cell migration, cell extension	cytoplasm|filamentous actin|nucleolus|plasma membrane|ruffle	SH3 domain binding|structural constituent of cytoskeleton	g.chr6:47512358G>T	AF146277	CCDS34472.1	6p12	2008-02-05			ENSG00000198087	ENSG00000198087			14258	protein-coding gene	gene with protein product		604241				10339567	Standard	NM_012120		Approved	CMS	uc003oyw.3	Q9Y5K6	OTTHUMG00000014799	ENST00000359314.5:c.336G>T	6.37:g.47512358G>T	ENSP00000352264:p.Gln112His						p.Q112H	NM_012120.2	NP_036252.1	Q9Y5K6	CD2AP_HUMAN	Lung(136;0.105)|LUSC - Lung squamous cell carcinoma(51;0.138)		4	792	+			112			Interaction with ANLN and localization to the midbody.|SH3 2.		A6NL34|Q5VYA3|Q9UG97	Missense_Mutation	SNP	ENST00000359314.5	37	c.336G>T	CCDS34472.1	.	.	.	.	.	.	.	.	.	.	G	18.52	3.642140	0.67244	.	.	ENSG00000198087	ENST00000359314	T	0.30182	1.54	5.62	2.85	0.33270	Src homology-3 domain (3);	0.252713	0.41001	D	0.000972	T	0.39091	0.1065	M	0.76727	2.345	0.58432	D	0.999999	D	0.57257	0.979	D	0.65684	0.937	T	0.33420	-0.9869	10	0.56958	D	0.05	-11.6818	10.2624	0.43434	0.2235:0.0:0.7765:0.0	.	112	Q9Y5K6	CD2AP_HUMAN	H	112	ENSP00000352264:Q112H	ENSP00000352264:Q112H	Q	+	3	2	CD2AP	47620317	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.080000	0.41586	0.719000	0.32188	0.655000	0.94253	CAG		0.308	CD2AP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040817.2			17	37	1	0	1.67942e-08	1	1.77343e-08	17	37					T	47512358	G	T	47512358	3	4	435	1	0	0	0	0	1	0	0	0	2994	1020	36	5	350	5	CD2AP	6	47512358	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	258394	47512358	123602709	3199	24124											
CD2AP	23607	broad.mit.edu	37	chr6	47563637	47563637	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagaaaccttctaaaccagcAgctccacaagtcccacccaa	15	5	4	17	0	1	1	0	0	1	1	3	1	3	1	5	0	4	2	5	0	5	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:47563637A>G	ENST00000359314.5	+	12	1605	c.1149A>G	c.(1147-1149)gcA>gcG	p.A383A		NM_012120.2	NP_036252.1	Q9Y5K6	CD2AP_HUMAN	CD2-associated protein	383	Pro-rich.				mitotic nuclear division (GO:0007067)|negative regulation of transforming growth factor beta1 production (GO:0032911)|positive regulation of protein localization to nucleus (GO:1900182)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein complex assembly (GO:0006461)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of receptor-mediated endocytosis (GO:0048259)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|substrate-dependent cell migration, cell extension (GO:0006930)|vesicle organization (GO:0016050)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	SH3 domain binding (GO:0017124)|structural constituent of cytoskeleton (GO:0005200)			kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	20			Lung(136;0.105)|LUSC - Lung squamous cell carcinoma(51;0.138)			CTAAACCAGCAGCTCCACAAG	0.363																																						ENST00000359314.5																			0				kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	20						c.(1147-1149)gcA>gcG		CD2-associated protein							199	220	213					6																	47563637		2203	4300	6503	SO:0001819	synonymous_variant	23607				cell division|mitosis|protein complex assembly|signal transduction|substrate-dependent cell migration, cell extension	cytoplasm|filamentous actin|nucleolus|plasma membrane|ruffle	SH3 domain binding|structural constituent of cytoskeleton	g.chr6:47563637A>G	AF146277	CCDS34472.1	6p12	2008-02-05			ENSG00000198087	ENSG00000198087			14258	protein-coding gene	gene with protein product		604241				10339567	Standard	NM_012120		Approved	CMS	uc003oyw.3	Q9Y5K6	OTTHUMG00000014799	ENST00000359314.5:c.1149A>G	6.37:g.47563637A>G							p.A383A	NM_012120.2	NP_036252.1	Q9Y5K6	CD2AP_HUMAN	Lung(136;0.105)|LUSC - Lung squamous cell carcinoma(51;0.138)		12	1605	+			383			Pro-rich.		A6NL34|Q5VYA3|Q9UG97	Silent	SNP	ENST00000359314.5	37	c.1149A>G	CCDS34472.1																																																																																				0.363	CD2AP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040817.2			63	98	0	0	0	1	0	63	98					G	47563637	A	G	47563637	2	3	435	1	0	0	0	0	0	0	0	1	2994	175	7	4		4	CD2AP	6	47563637	Silent	SNP	A	TCGA-XK-AAIW-01A-11D-A41K-08	51279	47563637	123551430	3200	24125											
RHAG	6005	broad.mit.edu	37	chr6	49582447	49582447	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taggctggagaaggcaaaggCtgtgagcacacaggcagcga	13	4	16	8	1	0	2	0	1	0	1	0	4	0	2	0	5	2	5	0	5	3	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:49582447C>A	ENST00000371175.4	-	5	786	c.760G>T	c.(760-762)Gcc>Tcc	p.A254S	RHAG_ENST00000229810.7_Missense_Mutation_p.A254S	NM_000324.2	NP_000315.2	Q02094	RHAG_HUMAN	Rh-associated glycoprotein	254					ammonium transmembrane transport (GO:0072488)|ammonium transport (GO:0015696)|bicarbonate transport (GO:0015701)|carbon dioxide transport (GO:0015670)|cellular ion homeostasis (GO:0006873)|erythrocyte development (GO:0048821)|multicellular organismal iron ion homeostasis (GO:0060586)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ammonium transmembrane transporter activity (GO:0008519)|ankyrin binding (GO:0030506)			NS(1)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	39	Lung NSC(77;0.0255)					AAGGCAAAGGCTGTGAGCACA	0.522																																					Ovarian(176;476 2003 7720 43408 44749)	ENST00000371175.4																			0				NS(1)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	39						c.(760-762)Gcc>Tcc		Rh-associated glycoprotein							200	170	180					6																	49582447		2203	4300	6503	SO:0001583	missense	6005				carbon dioxide transport|cellular ion homeostasis	integral to plasma membrane	ammonia transmembrane transporter activity|ammonium transmembrane transporter activity|ankyrin binding	g.chr6:49582447C>A		CCDS4927.1	6p12.3	2014-07-19	2006-02-23		ENSG00000112077	ENSG00000112077		"CD molecules", "Blood group antigens", "Solute carriers"	10006	protein-coding gene	gene with protein product		180297	"Rhesus blood group-associated glycoprotein"			9479501	Standard	NM_000324		Approved	RH50A, CD241, SLC42A1	uc003ozk.4	Q02094	OTTHUMG00000016377	ENST00000371175.4:c.760G>T	6.37:g.49582447C>A	ENSP00000360217:p.Ala254Ser					RHAG_ENST00000229810.7_Missense_Mutation_p.A254S	p.A254S	NM_000324.2	NP_000315.2	Q02094	RHAG_HUMAN			5	786	-	Lung NSC(77;0.0255)		254					B2R8T8|O43514|O43515|Q7L8L3|Q9H454	Missense_Mutation	SNP	ENST00000371175.4	37	c.760G>T	CCDS4927.1	.	.	.	.	.	.	.	.	.	.	C	5.715	0.316380	0.10789	.	.	ENSG00000112077	ENST00000371175;ENST00000229810;ENST00000418071;ENST00000539403	T;T	0.26223	1.75;1.75	5.76	-3.22	0.05125	Ammonium transporter AmtB-like (3);	0.411460	0.30528	N	0.009436	T	0.08714	0.0216	M	0.64676	1.99	0.25231	N	0.98982	B;B;B	0.22983	0.078;0.025;0.025	B;B;B	0.31390	0.129;0.034;0.052	T	0.35201	-0.9798	10	0.33141	T	0.24	-0.3167	5.8162	0.18494	0.2108:0.3348:0.0:0.4544	.	254;254;254	O43515;Q9UHG9;Q02094	.;.;RHAG_HUMAN	S	254	ENSP00000360217:A254S;ENSP00000229810:A254S	ENSP00000229810:A254S	A	-	1	0	RHAG	49690406	0.407000	0.25352	0.001000	0.08648	0.027000	0.11550	0.690000	0.25451	-0.725000	0.04901	-0.150000	0.13652	GCC		0.522	RHAG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043806.1			9	55	1	0	0.000442599	1	0.000451009	9	55					A	49582447	C	A	49582447	3	1	435	1	0	0	0	0	1	0	0	0	13315	797	28	5	493	5	RHAG	6	49582447	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	2018810	49582447	121532620	3201	24126											
PKHD1	5314	broad.mit.edu	37	chr6	51720866	51720866	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aagaaacttcaggagtattcGctctaaggtgattttaaaag	15	12	9	5	1	2	2	1	1	1	1	3	3	2	3	0	2	1	2	0	2	6	6	rs78361537	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:51720866G>A	ENST00000371117.3	-	49	8011	c.7736C>T	c.(7735-7737)gCg>gTg	p.A2579V	PKHD1_ENST00000340994.4_Missense_Mutation_p.A2579V	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	2579					cellular calcium ion homeostasis (GO:0006874)|cilium assembly (GO:0042384)|homeostatic process (GO:0042592)|kidney development (GO:0001822)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular component movement (GO:0051271)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of cell proliferation (GO:0008284)|regulation of centrosome duplication (GO:0010824)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of TOR signaling (GO:0032006)|single organismal cell-cell adhesion (GO:0016337)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|primary cilium (GO:0072372)	receptor activity (GO:0004872)			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					AGGAGTATTCGCTCTAAGGTG	0.353													G|||	3	0.000599042	0.0023	0	5008	,	,		20710	0		0	False		,,,				2504	0					ENST00000371117.3																			0				NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304						c.(7735-7737)gCg>gTg		polycystic kidney and hepatic disease 1 (autosomal recessive)		G	VAL/ALA,VAL/ALA	6,4400	11.4+/-27.6	0,6,2197	95	103	100		7736,7736	-2.7	0	6	dbSNP_131	100	0,8600		0,0,4300	yes	missense,missense	PKHD1	NM_138694.3,NM_170724.2	64,64	0,6,6497	AA,AG,GG		0.0,0.1362,0.0461	benign,benign	2579/4075,2579/3397	51720866	6,13000	2203	4300	6503	SO:0001583	missense	5314				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity	g.chr6:51720866G>A	AF480064	CCDS4935.1, CCDS4936.1	6p21.2-p12	2012-11-26	2003-04-16		ENSG00000170927	ENSG00000170927			9016	protein-coding gene	gene with protein product	"tigmin", "polyductin", "fibrocystin"	606702	"TIG multiple domains 1"	TIGM1		9503014	Standard	NM_138694		Approved	ARPKD, FCYT	uc003pah.1	P08F94	OTTHUMG00000014841	ENST00000371117.3:c.7736C>T	6.37:g.51720866G>A	ENSP00000360158:p.Ala2579Val					PKHD1_ENST00000340994.4_Missense_Mutation_p.A2579V	p.A2579V	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN			49	8011	-	Lung NSC(77;0.0605)		2579					Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Missense_Mutation	SNP	ENST00000371117.3	37	c.7736C>T	CCDS4935.1	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	G	11.69	1.713536	0.30413	0.001362	0.0	ENSG00000170927	ENST00000371117;ENST00000340994;ENST00000393616	D;D	0.87256	-2.04;-2.23	6.17	-2.69	0.06022	.	1.088580	0.06877	N	0.801770	T	0.58991	0.2161	L	0.45581	1.43	0.09310	N	1	B;P;B	0.41008	0.089;0.735;0.342	B;B;B	0.27887	0.01;0.084;0.028	T	0.55166	-0.8183	10	0.52906	T	0.07	.	1.8017	0.03073	0.4238:0.0922:0.2933:0.1907	.	2579;2579;2579	A8MVM9;P08F94-2;P08F94	.;.;PKHD1_HUMAN	V	2579	ENSP00000360158:A2579V;ENSP00000341097:A2579V	ENSP00000341097:A2579V	A	-	2	0	PKHD1	51828825	0.000000	0.05858	0.002000	0.10522	0.059000	0.15707	-0.031000	0.12287	-0.235000	0.09767	0.655000	0.94253	GCG		0.353	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040893.1	NM_138694		28	50	0	0	0	1	0	28	50					A	51720866	G	A	51720866	3	1	435	1	0	0	0	0	1	0	0	0	11971	1087	38	1	4603	1	PKHD1	6	51720866	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	2138419	51720866	119394201	3202	24127											
PKHD1	5314	broad.mit.edu	37	chr6	51918880	51918880	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccagtcacaggtggtattCtttaccatgttttgaaagcc	9	14	8	10	0	2	1	1	1	1	0	3	1	3	1	3	2	2	2	3	2	3	6			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:51918880C>A	ENST00000371117.3	-	20	2195	c.1920G>T	c.(1918-1920)aaG>aaT	p.K640N	PKHD1_ENST00000340994.4_Missense_Mutation_p.K640N	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	640					cellular calcium ion homeostasis (GO:0006874)|cilium assembly (GO:0042384)|homeostatic process (GO:0042592)|kidney development (GO:0001822)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular component movement (GO:0051271)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of cell proliferation (GO:0008284)|regulation of centrosome duplication (GO:0010824)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of TOR signaling (GO:0032006)|single organismal cell-cell adhesion (GO:0016337)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|primary cilium (GO:0072372)	receptor activity (GO:0004872)	p.K640N(1)		NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					AGGTGGTATTCTTTACCATGT	0.493																																						ENST00000371117.3																			1	Substitution - Missense(1)	p.K640N(1)	large_intestine(1)	NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304						c.(1918-1920)aaG>aaT		polycystic kidney and hepatic disease 1 (autosomal recessive)							143	117	126					6																	51918880		2203	4300	6503	SO:0001583	missense	5314				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity	g.chr6:51918880C>A	AF480064	CCDS4935.1, CCDS4936.1	6p21.2-p12	2012-11-26	2003-04-16		ENSG00000170927	ENSG00000170927			9016	protein-coding gene	gene with protein product	"tigmin", "polyductin", "fibrocystin"	606702	"TIG multiple domains 1"	TIGM1		9503014	Standard	NM_138694		Approved	ARPKD, FCYT	uc003pah.1	P08F94	OTTHUMG00000014841	ENST00000371117.3:c.1920G>T	6.37:g.51918880C>A	ENSP00000360158:p.Lys640Asn					PKHD1_ENST00000340994.4_Missense_Mutation_p.K640N	p.K640N	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN			20	2195	-	Lung NSC(77;0.0605)		640					Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Missense_Mutation	SNP	ENST00000371117.3	37	c.1920G>T	CCDS4935.1	.	.	.	.	.	.	.	.	.	.	C	11.83	1.754618	0.31046	.	.	ENSG00000170927	ENST00000371117;ENST00000340994;ENST00000393616	D;D	0.87729	-2.09;-2.29	5.36	5.36	0.76844	.	0.162599	0.42548	D	0.000683	T	0.74321	0.3701	M	0.64997	1.995	0.31366	N	0.680748	B;P	0.39480	0.347;0.675	B;B	0.30782	0.12;0.111	T	0.76903	-0.2787	10	0.54805	T	0.06	.	9.8404	0.40996	0.0:0.8427:0.0:0.1573	.	640;640	P08F94-2;P08F94	.;PKHD1_HUMAN	N	640	ENSP00000360158:K640N;ENSP00000341097:K640N	ENSP00000341097:K640N	K	-	3	2	PKHD1	52026839	0.959000	0.32827	0.987000	0.45799	0.136000	0.21042	0.725000	0.25970	2.516000	0.84829	0.591000	0.81541	AAG		0.493	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040893.1	NM_138694		22	25	1	0	2.89027e-11	1	3.10618e-11	22	25					A	51918880	C	A	51918880	3	1	435	1	0	0	0	0	1	0	0	0	11971	912	32	5	10535	5	PKHD1	6	51918880	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	198014	51918880	119196187	3203	24128											
MCM3	4172	broad.mit.edu	37	chr6	52141268	52141268	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggcccctgcttccagacggCgctctcctgggaagtgagaa	7	8	13	13	2	1	2	0	1	1	2	3	4	2	3	4	3	1	2	4	3	2	1	rs146513110		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:52141268C>T	ENST00000229854.7	-	9	1248	c.1172G>A	c.(1171-1173)cGc>cAc	p.R391H	MCM3_ENST00000476448.1_5'UTR|MCM3_ENST00000419835.2_Missense_Mutation_p.R345H|MCM3_ENST00000596288.1_Missense_Mutation_p.R436H			P25205	MCM3_HUMAN	minichromosome maintenance complex component 3	391	MCM.				DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA strand elongation involved in DNA replication (GO:0006271)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)	alpha DNA polymerase:primase complex (GO:0005658)|centrosome (GO:0005813)|intracellular membrane-bounded organelle (GO:0043231)|MCM complex (GO:0042555)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)			endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	20	Lung NSC(77;0.0931)					TTCCAGACGGCGCTCTCCTGG	0.498													C|||	1	0.000199681	8e-04	0	5008	,	,		22130	0		0	False		,,,				2504	0					ENST00000596288.1																			0				endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	20						c.(1306-1308)cGc>cAc		minichromosome maintenance complex component 3		C	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	48	44	45		1172	5	1	6	dbSNP_134	45	0,8600		0,0,4300	no	missense	MCM3	NM_002388.3	29	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	391/809	52141268	1,13005	2203	4300	6503	SO:0001583	missense	4172				cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	alpha DNA polymerase:primase complex|centrosome|MCM complex|perinuclear region of cytoplasm	ATP binding|DNA binding|helicase activity|protein binding	g.chr6:52141268C>T	X62153	CCDS4940.1, CCDS4940.2, CCDS75468.1	6p12	2008-02-05	2007-04-04		ENSG00000112118	ENSG00000112118			6945	protein-coding gene	gene with protein product		602693	"minichromosome maintenance deficient (S. cerevisiae) 3", "MCM3 minichromosome maintenance deficient 3 (S. cerevisiae)"			1549468	Standard	NM_002388		Approved		uc011dwu.2	P25205	OTTHUMG00000014844	ENST00000229854.7:c.1172G>A	6.37:g.52141268C>T	ENSP00000229854:p.Arg391His					MCM3_ENST00000229854.7_Missense_Mutation_p.R391H|MCM3_ENST00000419835.2_Missense_Mutation_p.R345H|MCM3_ENST00000476448.1_5'UTR	p.R436H	NM_002388.4	NP_002379.3	P25205	MCM3_HUMAN			9	1334	-	Lung NSC(77;0.0931)		391			MCM.		B4DWW4|Q92660|Q9BTR3|Q9NUE7	Missense_Mutation	SNP	ENST00000229854.7	37	c.1307G>A		.	.	.	.	.	.	.	.	.	.	C	20.5	4.007433	0.75046	2.27E-4	0.0	ENSG00000112118	ENST00000229854;ENST00000419835	T;T	0.06449	3.3;3.3	5.04	5.04	0.67666	ATPase, AAA+ type, core (1);	0.049778	0.85682	D	0.000000	T	0.24005	0.0581	H	0.97131	3.945	0.80722	D	1	D;P	0.54397	0.966;0.683	P;P	0.52758	0.708;0.503	T	0.44528	-0.9322	10	0.54805	T	0.06	-2.5743	18.5596	0.91095	0.0:1.0:0.0:0.0	.	345;391	B4DUQ9;P25205	.;MCM3_HUMAN	H	391;345	ENSP00000229854:R391H;ENSP00000388647:R345H	ENSP00000229854:R391H	R	-	2	0	MCM3	52249227	1.000000	0.71417	1.000000	0.80357	0.242000	0.25591	7.651000	0.83577	2.618000	0.88619	0.655000	0.94253	CGC		0.498	MCM3-006	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000470784.1			5	8	0	0	0	1	0	5	8					T	52141268	C	T	52141268	3	4	435	1	0	0	0	0	1	0	0	0	9387	768	27	1	1290	1	MCM3	6	52141268	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	222388	52141268	118973799	3204	24129											
MCM3	4172	broad.mit.edu	37	chr6	52141945	52141945	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tggtggggatagctcggggtGcagtgcaaagcacataccgc	9	7	16	9	2	0	0	0	0	0	0	1	1	0	1	1	5	5	4	1	5	3	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:52141945G>A	ENST00000229854.7	-	8	1161	c.1085C>T	c.(1084-1086)gCa>gTa	p.A362V	MCM3_ENST00000476448.1_5'UTR|MCM3_ENST00000419835.2_Missense_Mutation_p.A316V|MCM3_ENST00000596288.1_Missense_Mutation_p.A407V			P25205	MCM3_HUMAN	minichromosome maintenance complex component 3	362	MCM.				DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA strand elongation involved in DNA replication (GO:0006271)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)	alpha DNA polymerase:primase complex (GO:0005658)|centrosome (GO:0005813)|intracellular membrane-bounded organelle (GO:0043231)|MCM complex (GO:0042555)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)			endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	20	Lung NSC(77;0.0931)					AGCTCGGGGTGCAGTGCAAAG	0.602																																						ENST00000596288.1																			0				endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	20						c.(1219-1221)gCa>gTa		minichromosome maintenance complex component 3							63	61	62					6																	52141945		2203	4300	6503	SO:0001583	missense	4172				cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	alpha DNA polymerase:primase complex|centrosome|MCM complex|perinuclear region of cytoplasm	ATP binding|DNA binding|helicase activity|protein binding	g.chr6:52141945G>A	X62153	CCDS4940.1, CCDS4940.2, CCDS75468.1	6p12	2008-02-05	2007-04-04		ENSG00000112118	ENSG00000112118			6945	protein-coding gene	gene with protein product		602693	"minichromosome maintenance deficient (S. cerevisiae) 3", "MCM3 minichromosome maintenance deficient 3 (S. cerevisiae)"			1549468	Standard	NM_002388		Approved		uc011dwu.2	P25205	OTTHUMG00000014844	ENST00000229854.7:c.1085C>T	6.37:g.52141945G>A	ENSP00000229854:p.Ala362Val					MCM3_ENST00000229854.7_Missense_Mutation_p.A362V|MCM3_ENST00000419835.2_Missense_Mutation_p.A316V|MCM3_ENST00000476448.1_5'UTR	p.A407V	NM_002388.4	NP_002379.3	P25205	MCM3_HUMAN			8	1247	-	Lung NSC(77;0.0931)		362			MCM.		B4DWW4|Q92660|Q9BTR3|Q9NUE7	Missense_Mutation	SNP	ENST00000229854.7	37	c.1220C>T		.	.	.	.	.	.	.	.	.	.	G	36	5.747527	0.96882	.	.	ENSG00000112118	ENST00000229854;ENST00000419835	T;T	0.11169	2.8;2.8	5.36	5.36	0.76844	ATPase, AAA+ type, core (1);	0.047409	0.85682	D	0.000000	T	0.37376	0.1001	M	0.90922	3.16	0.80722	D	1	P;D	0.89917	0.933;1.0	P;D	0.79784	0.612;0.993	T	0.46735	-0.9170	10	0.87932	D	0	-14.558	19.2924	0.94105	0.0:0.0:1.0:0.0	.	316;362	B4DUQ9;P25205	.;MCM3_HUMAN	V	362;316	ENSP00000229854:A362V;ENSP00000388647:A316V	ENSP00000229854:A362V	A	-	2	0	MCM3	52249904	1.000000	0.71417	0.980000	0.43619	0.994000	0.84299	9.633000	0.98432	2.783000	0.95769	0.655000	0.94253	GCA		0.602	MCM3-006	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000470784.1			18	21	0	0	0	1	0	18	21					A	52141945	G	A	52141945	3	1	435	1	0	0	0	0	1	0	0	0	9387	1319	46	3	1381	3	MCM3	6	52141945	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	677	52141945	118973122	3205	24130											
MCM3	4172	broad.mit.edu	37	chr6	52148119	52148119	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccctcttctcgtttttcctgCgcaggtcattcacattgaca	6	15	6	14	2	4	1	2	1	2	0	6	1	5	1	2	1	1	2	2	1	0	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:52148119C>T	ENST00000229854.7	-	2	240	c.164G>A	c.(163-165)cGc>cAc	p.R55H	MCM3_ENST00000419835.2_Intron|MCM3_ENST00000596288.1_Missense_Mutation_p.R100H			P25205	MCM3_HUMAN	minichromosome maintenance complex component 3	55					DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA strand elongation involved in DNA replication (GO:0006271)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)	alpha DNA polymerase:primase complex (GO:0005658)|centrosome (GO:0005813)|intracellular membrane-bounded organelle (GO:0043231)|MCM complex (GO:0042555)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)			endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	20	Lung NSC(77;0.0931)					GTTTTTCCTGCGCAGGTCATT	0.512																																						ENST00000596288.1																			0				endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	20						c.(298-300)cGc>cAc		minichromosome maintenance complex component 3							240	195	210					6																	52148119		2203	4300	6503	SO:0001583	missense	4172				cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	alpha DNA polymerase:primase complex|centrosome|MCM complex|perinuclear region of cytoplasm	ATP binding|DNA binding|helicase activity|protein binding	g.chr6:52148119C>T	X62153	CCDS4940.1, CCDS4940.2, CCDS75468.1	6p12	2008-02-05	2007-04-04		ENSG00000112118	ENSG00000112118			6945	protein-coding gene	gene with protein product		602693	"minichromosome maintenance deficient (S. cerevisiae) 3", "MCM3 minichromosome maintenance deficient 3 (S. cerevisiae)"			1549468	Standard	NM_002388		Approved		uc011dwu.2	P25205	OTTHUMG00000014844	ENST00000229854.7:c.164G>A	6.37:g.52148119C>T	ENSP00000229854:p.Arg55His					MCM3_ENST00000229854.7_Missense_Mutation_p.R55H|MCM3_ENST00000419835.2_Intron	p.R100H	NM_002388.4	NP_002379.3	P25205	MCM3_HUMAN			2	326	-	Lung NSC(77;0.0931)		55					B4DWW4|Q92660|Q9BTR3|Q9NUE7	Missense_Mutation	SNP	ENST00000229854.7	37	c.299G>A		.	.	.	.	.	.	.	.	.	.	C	35	5.475522	0.96291	.	.	ENSG00000112118	ENST00000229854	T	0.12465	2.68	4.9	4.9	0.64082	Nucleic acid-binding, OB-fold-like (1);	0.048648	0.64402	D	0.000003	T	0.37544	0.1007	M	0.88704	2.975	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	T	0.38735	-0.9647	10	0.49607	T	0.09	-5.808	18.2523	0.90007	0.0:1.0:0.0:0.0	.	55	P25205	MCM3_HUMAN	H	55	ENSP00000229854:R55H	ENSP00000229854:R55H	R	-	2	0	MCM3	52256078	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.237000	0.78164	2.536000	0.85505	0.655000	0.94253	CGC		0.512	MCM3-006	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000470784.1			23	30	0	0	0	1	0	23	30					T	52148119	C	T	52148119	3	4	435	1	0	0	0	0	1	0	0	0	9387	768	27	1	2326	1	MCM3	6	52148119	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	6174	52148119	118966948	3206	24131											
EFHC1	114327	broad.mit.edu	37	chr6	52357121	52357121	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attaactactataactttgtTcgtgctttctcaaactgacc	11	16	4	10	1	1	1	1	1	1	0	3	1	1	1	1	0	5	2	1	0	5	7			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:52357121T>C	ENST00000371068.5	+	11	2008	c.1905T>C	c.(1903-1905)gtT>gtC	p.V635V	EFHC1_ENST00000433625.2_Intron|EFHC1_ENST00000538167.1_Silent_p.V616V	NM_018100.3	NP_060570.2	Q5JVL4	EFHC1_HUMAN	EF-hand domain (C-terminal) containing 1	635						axoneme (GO:0005930)|neuronal cell body (GO:0043025)	calcium ion binding (GO:0005509)|protein C-terminus binding (GO:0008022)			breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(8)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	27	Lung NSC(77;0.109)					ATAACTTTGTTCGTGCTTTCT	0.398																																						ENST00000371068.5																			0				breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(8)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	27						c.(1903-1905)gtT>gtC		EF-hand domain (C-terminal) containing 1							113	98	103					6																	52357121		2203	4300	6503	SO:0001819	synonymous_variant	114327					axoneme|neuronal cell body	calcium ion binding|protein C-terminus binding	g.chr6:52357121T>C	AK001328	CCDS4942.1, CCDS55021.1	6p12.3	2014-02-04			ENSG00000096093	ENSG00000096093		"EF-hand domain containing"	16406	protein-coding gene	gene with protein product	"myoclonin-1"	608815	"epilepsy, juvenile myoclonic 1"	EJM1, EJM		15258581	Standard	NM_018100		Approved	FLJ10466	uc003pap.4	Q5JVL4	OTTHUMG00000014848	ENST00000371068.5:c.1905T>C	6.37:g.52357121T>C						EFHC1_ENST00000538167.1_Silent_p.V616V|EFHC1_ENST00000433625.2_Intron	p.V635V	NM_018100.3	NP_060570.2	Q5JVL4	EFHC1_HUMAN			11	2008	+	Lung NSC(77;0.109)		635					B4DMU3|F5GZD8|Q5XKM4|Q6E1U7|Q6E1U8|Q8WUL2|Q9NVW6	Silent	SNP	ENST00000371068.5	37	c.1905T>C	CCDS4942.1																																																																																				0.398	EFHC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040905.2	NM_018100		17	87	0	0	0	1	0	17	87					C	52357121	T	C	52357121	2	2	435	1	0	0	0	0	0	0	0	1	4946	1770	62	4		4	EFHC1	6	52357121	Silent	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	209002	52357121	118757946	3207	24132											
TRAM2	9697	broad.mit.edu	37	chr6	52380805	52380805	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtcctgagaatggctcaccGtcaccaccacgtagaagcac	12	6	9	14	2	2	2	2	1	0	2	3	3	3	2	4	1	1	3	4	1	3	1	rs201183470		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:52380805G>A	ENST00000182527.3	-	4	409	c.410C>T	c.(409-411)aCg>aTg	p.T137M	EFHC1_ENST00000433625.2_Intron	NM_012288.3	NP_036420.1	Q15035	TRAM2_HUMAN	translocation associated membrane protein 2	137	TLC. {ECO:0000255|PROSITE- ProRule:PRU00205}.				collagen biosynthetic process (GO:0032964)|protein transport (GO:0015031)	integral component of membrane (GO:0016021)				endometrium(3)|large_intestine(1)|lung(7)|prostate(1)|skin(1)	13	Lung NSC(77;0.109)					ATGGCTCACCGTCACCACCAC	0.498													G|||	1	0.000199681	0	0.0014	5008	,	,		18047	0		0	False		,,,				2504	0					ENST00000182527.3																			0				endometrium(3)|large_intestine(1)|lung(7)|prostate(1)|skin(1)	13						c.e4+1		translocation associated membrane protein 2		G	MET/THR	0,4406		0,0,2203	173	154	161		410	4.6	1	6		161	2,8598	2.2+/-6.3	0,2,4298	yes	missense-near-splice	TRAM2	NM_012288.3	81	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	probably-damaging	137/371	52380805	2,13004	2203	4300	6503	SO:0001630	splice_region_variant	9697				collagen biosynthetic process|protein transport|transmembrane transport	integral to membrane	protein binding	g.chr6:52380805G>A	D31762	CCDS34477.1	6p21.1-p12	2008-02-05			ENSG00000065308	ENSG00000065308			16855	protein-coding gene	gene with protein product		608485				7584044, 10594243	Standard	NM_012288		Approved	KIAA0057	uc003paq.3	Q15035	OTTHUMG00000014850	ENST00000182527.3:c.411+1C>T	6.37:g.52380805G>A						EFHC1_ENST00000433625.2_Intron	p.T137_splice	NM_012288.3	NP_036420.1	Q15035	TRAM2_HUMAN			4	409	-	Lung NSC(77;0.109)		137			TLC.		A8K6T6	Splice_Site	SNP	ENST00000182527.3	37	c.411_splice	CCDS34477.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.019819	0.75275	0.0	2.33E-4	ENSG00000065308	ENST00000182527	D	0.85484	-1.99	5.46	4.59	0.56863	TRAM/LAG1/CLN8 homology domain (3);	0.189789	0.56097	D	0.000027	D	0.88665	0.6498	M	0.63428	1.95	0.58432	D	0.999998	D	0.89917	1.0	D	0.79784	0.993	D	0.88845	0.3315	10	0.56958	D	0.05	.	13.3209	0.60432	0.0765:0.0:0.9235:0.0	.	137	Q15035	TRAM2_HUMAN	M	137	ENSP00000182527:T137M	ENSP00000182527:T137M	T	-	2	0	TRAM2	52488764	1.000000	0.71417	1.000000	0.80357	0.920000	0.55202	5.479000	0.66813	2.557000	0.86248	0.655000	0.94253	ACG		0.498	TRAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040910.1	NM_012288	Missense_Mutation	48	60	0	0	0	1	0	48	60					A	52380805	G	A	52380805	5	1	435	1	0	0	0	0	0	0	1	0	16450	1159	40	1	734	1	TRAM2	6	52380805	Splice_Site	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	23684	52380805	118734262	3208	24133											
GCM1	8521	broad.mit.edu	37	chr6	52993189	52993189	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atggtatgcaggagactggaCgtagctgttaaaatccacat	13	10	11	7	1	0	1	0	0	0	1	1	3	1	2	1	3	2	5	1	3	4	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:52993189C>T	ENST00000259803.7	-	6	1337	c.1126G>A	c.(1126-1128)Gtc>Atc	p.V376I	RP11-506E9.3_ENST00000566420.1_RNA	NM_003643.3	NP_003634.2	Q9NP62	GCM1_HUMAN	glial cells missing homolog 1 (Drosophila)	376					anatomical structure morphogenesis (GO:0009653)|astrocyte fate commitment (GO:0060018)|branching involved in labyrinthine layer morphogenesis (GO:0060670)|cell differentiation involved in embryonic placenta development (GO:0060706)|positive regulation of syncytium formation by plasma membrane fusion (GO:0060143)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(15)|ovary(1)|skin(1)	24	Lung NSC(77;0.0755)					GGAGACTGGACGTAGCTGTTA	0.478																																						ENST00000259803.7																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(15)|ovary(1)|skin(1)	24						c.(1126-1128)Gtc>Atc		glial cells missing homolog 1 (Drosophila)							190	189	189					6																	52993189		2203	4300	6503	SO:0001583	missense	8521					transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding	g.chr6:52993189C>T	D88613	CCDS4950.1	6p21-p12	2008-08-29	2001-11-28	2002-09-27	ENSG00000137270	ENSG00000137270			4197	protein-coding gene	gene with protein product		603715	"glial cells missing (Drosophila) homolog a"	GCMA		8962155	Standard	NM_003643		Approved	hGCMa	uc003pbp.3	Q9NP62	OTTHUMG00000014871	ENST00000259803.7:c.1126G>A	6.37:g.52993189C>T	ENSP00000259803:p.Val376Ile						p.V376I	NM_003643.3	NP_003634.2	Q9NP62	GCM1_HUMAN			6	1337	-	Lung NSC(77;0.0755)		376					Q4VAQ7|Q5T0X0|Q99468|Q9P1X3	Missense_Mutation	SNP	ENST00000259803.7	37	c.1126G>A	CCDS4950.1	.	.	.	.	.	.	.	.	.	.	C	7.958	0.746388	0.15710	.	.	ENSG00000137270	ENST00000259803	T	0.73897	-0.79	5.73	0.932	0.19466	.	0.921729	0.09295	N	0.821717	T	0.29882	0.0747	N	0.19112	0.55	0.09310	N	1	B	0.10296	0.003	B	0.04013	0.001	T	0.10474	-1.0628	10	0.24483	T	0.36	-24.399	1.7166	0.02902	0.3107:0.3879:0.0993:0.2021	.	376	Q9NP62	GCM1_HUMAN	I	376	ENSP00000259803:V376I	ENSP00000259803:V376I	V	-	1	0	GCM1	53101148	0.001000	0.12720	0.108000	0.21378	0.796000	0.44982	0.074000	0.14662	0.206000	0.20587	-0.218000	0.12543	GTC		0.478	GCM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040953.1			5	127	0	0	0	1	0	5	127					T	52993189	C	T	52993189	3	4	435	1	0	0	0	0	1	0	0	0	6297	536	19	1	188	1	GCM1	6	52993189	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	612384	52993189	118121878	3209	24134											
KLHL31	401265	broad.mit.edu	37	chr6	53519296	53519296	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgcagagatggtaccaaagcGaatattgctcaaaagatctg	15	9	10	7	1	2	2	1	0	1	2	2	4	2	2	1	1	4	3	1	1	6	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:53519296G>A	ENST00000407079.1	-	1	774	c.775C>T	c.(775-777)Cgc>Tgc	p.R259C	KLHL31_ENST00000370905.3_Missense_Mutation_p.R259C			Q9H511	KLH31_HUMAN	kelch-like family member 31	259	BACK.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)					autonomic_ganglia(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(3)	20	Lung NSC(77;0.0158)					GTACCAAAGCGAATATTGCTC	0.398																																						ENST00000370905.3																			0				autonomic_ganglia(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(3)	20						c.(775-777)Cgc>Tgc		kelch-like family member 31							148	143	144					6																	53519296		2203	4300	6503	SO:0001583	missense	401265				regulation of transcription, DNA-dependent|transcription, DNA-dependent			g.chr6:53519296G>A		CCDS34478.1	6p12.1	2013-09-27	2013-02-22	2007-01-09	ENSG00000124743	ENSG00000124743		"Kelch-like", "BTB/POZ domain containing"	21353	protein-coding gene	gene with protein product		610749	"kelch repeat and BTB (POZ) domain containing 1", "kelch-like 31 (Drosophila)"	KBTBD1			Standard	NM_001003760		Approved	bA345L23.2, BKLHD6	uc003pcb.4	Q9H511	OTTHUMG00000014882	ENST00000407079.1:c.775C>T	6.37:g.53519296G>A	ENSP00000384644:p.Arg259Cys					KLHL31_ENST00000407079.1_Missense_Mutation_p.R259C	p.R259C	NM_001003760.4	NP_001003760.2	Q9H511	KLH31_HUMAN			2	915	-	Lung NSC(77;0.0158)		259			BACK.		A6N9J2|B2RP49	Missense_Mutation	SNP	ENST00000407079.1	37	c.775C>T	CCDS34478.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.273179	0.80580	.	.	ENSG00000124743	ENST00000370905;ENST00000407079	T;T	0.81163	-1.46;-1.46	5.82	5.82	0.92795	BTB/Kelch-associated (2);	0.000000	0.85682	D	0.000000	D	0.91754	0.7392	M	0.91249	3.19	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.92576	0.6070	10	0.87932	D	0	.	20.093	0.97828	0.0:0.0:1.0:0.0	.	259	Q9H511	KLH31_HUMAN	C	259	ENSP00000359942:R259C;ENSP00000384644:R259C	ENSP00000359942:R259C	R	-	1	0	KLHL31	53627255	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.941000	0.87700	2.756000	0.94617	0.561000	0.74099	CGC		0.398	KLHL31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040965.1	NM_001003760		5	113	0	0	0	1	0	5	113					A	53519296	G	A	53519296	3	1	435	1	0	0	0	0	1	0	0	0	8385	1058	37	2	1137	2	KLHL31	6	53519296	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	526107	53519296	117595771	3210	24135											
KLHL31	401265	broad.mit.edu	37	chr6	53520007	53520007	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtttagggggctatcttctaCgattatagtcatctcattga	9	16	9	7	1	4	1	2	1	3	0	5	2	4	1	0	2	1	2	0	2	5	8			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:53520007C>T	ENST00000407079.1	-	1	63	c.64G>A	c.(64-66)Gta>Ata	p.V22I	KLHL31_ENST00000370905.3_Missense_Mutation_p.V22I			Q9H511	KLH31_HUMAN	kelch-like family member 31	22					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)					autonomic_ganglia(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(3)	20	Lung NSC(77;0.0158)					CTATCTTCTACGATTATAGTC	0.408																																						ENST00000370905.3																			0				autonomic_ganglia(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(3)	20						c.(64-66)Gta>Ata		kelch-like family member 31							99	90	93					6																	53520007		2203	4299	6502	SO:0001583	missense	401265				regulation of transcription, DNA-dependent|transcription, DNA-dependent			g.chr6:53520007C>T		CCDS34478.1	6p12.1	2013-09-27	2013-02-22	2007-01-09	ENSG00000124743	ENSG00000124743		"Kelch-like", "BTB/POZ domain containing"	21353	protein-coding gene	gene with protein product		610749	"kelch repeat and BTB (POZ) domain containing 1", "kelch-like 31 (Drosophila)"	KBTBD1			Standard	NM_001003760		Approved	bA345L23.2, BKLHD6	uc003pcb.4	Q9H511	OTTHUMG00000014882	ENST00000407079.1:c.64G>A	6.37:g.53520007C>T	ENSP00000384644:p.Val22Ile					KLHL31_ENST00000407079.1_Missense_Mutation_p.V22I	p.V22I	NM_001003760.4	NP_001003760.2	Q9H511	KLH31_HUMAN			2	204	-	Lung NSC(77;0.0158)		22					A6N9J2|B2RP49	Missense_Mutation	SNP	ENST00000407079.1	37	c.64G>A	CCDS34478.1	.	.	.	.	.	.	.	.	.	.	C	17.24	3.339553	0.60963	.	.	ENSG00000124743	ENST00000370905;ENST00000407079	T;T	0.69175	-0.38;-0.38	6.16	5.3	0.74995	.	0.000000	0.85682	D	0.000000	T	0.43366	0.1244	L	0.36672	1.1	0.54753	D	0.999981	D	0.59357	0.985	B	0.39840	0.311	T	0.41251	-0.9519	10	0.25751	T	0.34	.	17.7717	0.88494	0.0:0.8779:0.1221:0.0	.	22	Q9H511	KLH31_HUMAN	I	22	ENSP00000359942:V22I;ENSP00000384644:V22I	ENSP00000359942:V22I	V	-	1	0	KLHL31	53627966	1.000000	0.71417	0.880000	0.34516	0.834000	0.47266	5.784000	0.68990	1.620000	0.50308	-0.156000	0.13503	GTA		0.408	KLHL31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040965.1	NM_001003760		24	24	0	0	0	1	0	24	24					T	53520007	C	T	53520007	3	4	435	1	0	0	0	0	1	0	0	0	8385	536	19	1	1848	1	KLHL31	6	53520007	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	711	53520007	117595060	3211	24136											
C6orf142	90523	broad.mit.edu	37	chr6	54025229	54025229	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacattagaaccaccagtggAggtaataacttcagattacc	15	9	7	10	0	1	2	1	0	0	2	1	3	1	3	3	2	3	1	3	2	5	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:54025229A>G	ENST00000274897.5	+	5	862	c.749A>G	c.(748-750)gAg>gGg	p.E250G	MLIP_ENST00000511744.1_3'UTR|MLIP_ENST00000509997.1_Intron|MLIP_ENST00000358276.5_Intron|MLIP_ENST00000370876.2_Intron|MLIP_ENST00000514921.1_Splice_Site_p.E774G|MLIP_ENST00000370877.2_Splice_Site_p.E174G|MLIP_ENST00000502396.1_Splice_Site_p.E785G	NM_138569.2	NP_612636.2	Q5VWP3	MLIP_HUMAN	muscular LMNA-interacting protein	250						nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|PML body (GO:0016605)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(16)|ovary(8)|skin(4)|stomach(1)|urinary_tract(1)	34						CCACCAGTGGAGGTAATAACT	0.413																																						ENST00000514921.1																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(16)|ovary(8)|skin(4)|stomach(1)|urinary_tract(1)	34						c.e6+1		muscular LMNA-interacting protein							84	79	81					6																	54025229		2203	4300	6503	SO:0001630	splice_region_variant	90523					nuclear envelope|PML body	protein binding	g.chr6:54025229A>G	AK055530	CCDS4954.1, CCDS64448.1, CCDS64449.1	6p12.2-p12.1	2011-04-29	2011-04-29	2011-04-29	ENSG00000146147	ENSG00000146147			21355	protein-coding gene	gene with protein product	"muscle-enriched A-type lamin interacting protein"	614106	"chromosome 6 open reading frame 142"	C6orf142		21498514	Standard	NM_138569		Approved	MGC18257	uc011dxa.2	Q5VWP3	OTTHUMG00000014891	ENST00000274897.5:c.750+1A>G	6.37:g.54025229A>G						MLIP_ENST00000502396.1_Splice_Site_p.E785_splice|MLIP_ENST00000370876.2_Intron|MLIP_ENST00000274897.5_Splice_Site_p.E250_splice|MLIP_ENST00000370877.2_Splice_Site_p.E174_splice|MLIP_ENST00000509997.1_Intron|MLIP_ENST00000511744.1_3'UTR|MLIP_ENST00000358276.5_Intron	p.E774_splice			Q5VWP3	MLIP_HUMAN			6	2434	+			250					B7Z2N0|D6RE05|Q96H08|Q96NF7	Splice_Site	SNP	ENST00000274897.5	37	c.2322_splice	CCDS4954.1	.	.	.	.	.	.	.	.	.	.	A	19.68	3.873642	0.72180	.	.	ENSG00000146147	ENST00000274897;ENST00000514921;ENST00000370877;ENST00000447836;ENST00000502396;ENST00000370878;ENST00000514433	T;T;T;T;T;T	0.41400	1.0;1.0;1.79;1.54;1.0;1.54	5.49	5.49	0.81192	.	0.000000	0.85682	D	0.000000	T	0.52451	0.1735	M	0.63843	1.955	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.998;0.999;0.998	T	0.56347	-0.7994	10	0.54805	T	0.06	-15.3115	13.5249	0.61589	1.0:0.0:0.0:0.0	.	785;250;774	Q5VWP3-3;Q5VWP3;D6RE05	.;MLIP_HUMAN;.	G	250;774;174;132;785;132;227	ENSP00000274897:E250G;ENSP00000425142:E774G;ENSP00000359914:E174G;ENSP00000411917:E132G;ENSP00000426290:E785G;ENSP00000421444:E227G	ENSP00000274897:E250G	E	+	2	0	MLIP	54133188	1.000000	0.71417	1.000000	0.80357	0.899000	0.52679	5.924000	0.70054	2.091000	0.63221	0.260000	0.18958	GAG		0.413	MLIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040979.3	NM_138569	Missense_Mutation	19	20	0	0	0	1	0	19	20					G	54025229	A	G	54025229	5	3	435	1	0	0	0	0	0	0	1	0	2333	318	11	4	767	4	C6orf142	6	54025229	Splice_Site	SNP	A	TCGA-XK-AAIW-01A-11D-A41K-08	505222	54025229	117089838	3212	24137											
HMGCLL1	54511	broad.mit.edu	37	chr6	55381397	55381397	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcattacttcagtgtgatcaGccatcttaaatacataatag	14	14	5	8	0	4	1	3	1	1	0	4	1	4	1	1	0	3	0	1	0	6	6			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:55381397G>A	ENST00000398661.2	-	5	523	c.392C>T	c.(391-393)gCt>gTt	p.A131V	HMGCLL1_ENST00000508459.1_Intron|HMGCLL1_ENST00000428842.1_Intron|HMGCLL1_ENST00000274901.4_Missense_Mutation_p.A101V|HMGCLL1_ENST00000370850.2_Intron|HMGCLL1_ENST00000308161.4_Intron	NM_019036.2	NP_061909.2	Q8TB92	HMGC2_HUMAN	3-hydroxymethyl-3-methylglutaryl-CoA lyase-like 1	131					ketone body biosynthetic process (GO:0046951)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	hydroxymethylglutaryl-CoA lyase activity (GO:0004419)|metal ion binding (GO:0046872)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	31	Lung NSC(77;0.0875)		LUSC - Lung squamous cell carcinoma(124;0.23)			AGTGTGATCAGCCATCTTAAA	0.358																																					Ovarian(35;840 893 7837 15538 42887)	ENST00000398661.2																			0				breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	31						c.(391-393)gCt>gTt		3-hydroxymethyl-3-methylglutaryl-CoA lyase-like 1							116	117	117					6																	55381397		1857	4105	5962	SO:0001583	missense	54511						hydroxymethylglutaryl-CoA lyase activity|metal ion binding	g.chr6:55381397G>A	AK055075	CCDS43474.1, CCDS43475.1, CCDS75472.1, CCDS75473.1	6p12.1	2010-04-30	2010-04-30		ENSG00000146151	ENSG00000146151			21359	protein-coding gene	gene with protein product			"3-hydroxymethyl-3-methylglutaryl-Coenzyme A lyase-like 1"			8619474, 9110174	Standard	NM_001042406		Approved	DKFZP434G1411, bA418P12.1	uc003pcn.3	Q8TB92	OTTHUMG00000014902	ENST00000398661.2:c.392C>T	6.37:g.55381397G>A	ENSP00000381654:p.Ala131Val					HMGCLL1_ENST00000508459.1_Intron|HMGCLL1_ENST00000370850.2_Intron|HMGCLL1_ENST00000308161.4_Intron|HMGCLL1_ENST00000274901.4_Missense_Mutation_p.A101V|HMGCLL1_ENST00000428842.1_Intron	p.A131V	NM_019036.2	NP_061909.2	Q8TB92	HMGC2_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.23)		5	523	-	Lung NSC(77;0.0875)		131					B1AQ42|B3KNV0|B7Z1S7|F8W793|Q6ZSA9	Missense_Mutation	SNP	ENST00000398661.2	37	c.392C>T	CCDS43475.1	.	.	.	.	.	.	.	.	.	.	G	26.7	4.761024	0.89932	.	.	ENSG00000146151	ENST00000274901;ENST00000398661	D;D	0.98105	-4.72;-4.72	5.51	4.64	0.57946	Aldolase-type TIM barrel (1);Pyruvate carboxyltransferase (2);	0.379952	0.28895	N	0.013789	D	0.98820	0.9602	H	0.95745	3.715	0.80722	D	1	P;P	0.45569	0.661;0.861	P;P	0.59825	0.571;0.864	D	0.99399	1.0927	10	0.87932	D	0	-29.4556	14.1021	0.65062	0.0725:0.0:0.9275:0.0	.	101;131	Q8TB92-2;Q8TB92	.;HMGC2_HUMAN	V	101;131	ENSP00000274901:A101V;ENSP00000381654:A131V	ENSP00000274901:A101V	A	-	2	0	HMGCLL1	55489356	1.000000	0.71417	1.000000	0.80357	0.901000	0.52897	7.930000	0.87610	1.331000	0.45412	0.591000	0.81541	GCT		0.358	HMGCLL1-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000360290.1	XM_166383		19	42	0	0	0	1	0	19	42					A	55381397	G	A	55381397	3	1	435	1	0	0	0	0	1	0	0	0	7230	971	34	3	744	3	HMGCLL1	6	55381397	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	1356168	55381397	115733670	3213	24138											
BMP5	653	broad.mit.edu	37	chr6	55620455	55620455	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gagcacaacaaggctttggtAcgtggtcaggaaacatcaga	14	7	12	8	1	2	1	2	0	0	1	2	3	2	2	0	4	4	3	0	4	4	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:55620455A>G	ENST00000370830.3	-	7	1939	c.1241T>C	c.(1240-1242)gTa>gCa	p.V414A	BMP5_ENST00000446683.2_Missense_Mutation_p.V377A	NM_021073.2	NP_066551.1	P22003	BMP5_HUMAN	bone morphogenetic protein 5	414					cartilage development (GO:0051216)|growth (GO:0040007)|male genitalia development (GO:0030539)|negative regulation of aldosterone biosynthetic process (GO:0032348)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cortisol biosynthetic process (GO:2000065)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of insulin-like growth factor receptor signaling pathway (GO:0043569)|negative regulation of mononuclear cell migration (GO:0071676)|negative regulation of steroid biosynthetic process (GO:0010894)|ossification (GO:0001503)|pattern specification process (GO:0007389)|positive regulation of dendrite development (GO:1900006)|positive regulation of DNA-dependent DNA replication (GO:2000105)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal system development (GO:0001501)|type B pancreatic cell development (GO:0003323)	extracellular space (GO:0005615)|membrane-bounded vesicle (GO:0031988)	BMP receptor binding (GO:0070700)			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	45	Lung NSC(77;0.0462)		LUSC - Lung squamous cell carcinoma(124;0.181)			AGGCTTTGGTACGTGGTCAGG	0.318																																						ENST00000370830.3																			0				cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	45						c.(1240-1242)gTa>gCa		bone morphogenetic protein 5							107	106	106					6																	55620455		2203	4299	6502	SO:0001583	missense	653				cartilage development|cell differentiation|growth|ossification	extracellular space	BMP receptor binding|cytokine activity|growth factor activity	g.chr6:55620455A>G		CCDS4958.1	6p12.1	2014-01-30			ENSG00000112175	ENSG00000112175		"Bone morphogenetic proteins", "Endogenous ligands"	1072	protein-coding gene	gene with protein product		112265				1427904, 11580864	Standard	NM_021073		Approved		uc003pcq.3	P22003	OTTHUMG00000014903	ENST00000370830.3:c.1241T>C	6.37:g.55620455A>G	ENSP00000359866:p.Val414Ala					BMP5_ENST00000446683.2_Missense_Mutation_p.V377A	p.V414A	NM_021073.2	NP_066551.1	P22003	BMP5_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.181)		7	1939	-	Lung NSC(77;0.0462)		414					B4E0Y4|Q9H547|Q9NTM5	Missense_Mutation	SNP	ENST00000370830.3	37	c.1241T>C	CCDS4958.1	.	.	.	.	.	.	.	.	.	.	A	21.3	4.126662	0.77549	.	.	ENSG00000112175	ENST00000370830;ENST00000446683	D;D	0.83506	-1.73;-1.73	5.73	5.73	0.89815	Transforming growth factor-beta, C-terminal (3);	0.000000	0.85682	D	0.000000	D	0.86900	0.6044	L	0.49256	1.55	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.88640	0.3175	10	0.87932	D	0	.	16.3197	0.82945	1.0:0.0:0.0:0.0	.	377;414	B4E0Y4;P22003	.;BMP5_HUMAN	A	414;377	ENSP00000359866:V414A;ENSP00000391818:V377A	ENSP00000359866:V414A	V	-	2	0	BMP5	55728414	1.000000	0.71417	0.997000	0.53966	0.989000	0.77384	9.287000	0.95975	2.302000	0.77476	0.533000	0.62120	GTA		0.318	BMP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041000.1			37	49	0	0	0	1	0	37	49					G	55620455	A	G	55620455	3	3	435	1	0	0	0	0	1	0	0	0	1463	391	14	4	127	4	BMP5	6	55620455	Missense_Mutation	SNP	A	TCGA-XK-AAIW-01A-11D-A41K-08	239058	55620455	115494612	3214	24139											
DST	667	broad.mit.edu	37	chr6	56417270	56417270	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgcaggttttattggcattGtcattgcttgccatgagggc	6	16	12	7	0	1	1	1	1	0	0	1	1	1	1	1	3	3	4	1	3	1	7			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:56417270G>A	ENST00000361203.3	-	57	15694	c.15687C>T	c.(15685-15687)gaC>gaT	p.D5229D	DST_ENST00000244364.6_Silent_p.D2817D|DST_ENST00000446842.2_Silent_p.D4905D|DST_ENST00000370788.2_Silent_p.D3143D|DST_ENST00000421834.2_Silent_p.D3143D|DST_ENST00000370769.4_Silent_p.D5231D|DST_ENST00000312431.6_3'UTR|DST_ENST00000370754.5_Silent_p.D5409D			Q03001	DYST_HUMAN	dystonin	5229					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TATTGGCATTGTCATTGCTTG	0.433																																						ENST00000370754.5																			0				NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105						c.(16225-16227)gaC>gaT		dystonin							69	65	66					6																	56417270		1885	4116	6001	SO:0001819	synonymous_variant	667				cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity	g.chr6:56417270G>A	M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"EF-hand domain containing"	1090	protein-coding gene	gene with protein product		113810	"bullous pemphigoid antigen 1, 230/240kDa"	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000361203.3:c.15687C>T	6.37:g.56417270G>A						DST_ENST00000370769.4_Silent_p.D5231D|DST_ENST00000370788.2_Silent_p.D3143D|DST_ENST00000312431.6_3'UTR|DST_ENST00000244364.6_Silent_p.D2817D|DST_ENST00000361203.3_Silent_p.D5229D|DST_ENST00000421834.2_Silent_p.D3143D|DST_ENST00000446842.2_Silent_p.D4905D	p.D5409D			Q03001	DYST_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)		61	16226	-	Lung NSC(77;0.103)		5229					B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Silent	SNP	ENST00000361203.3	37	c.16227C>T																																																																																					0.433	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000041021.3	NM_001723		13	25	0	0	0	1	0	13	25					A	56417270	G	A	56417270	2	1	435	1	0	0	0	0	0	0	0	1	4783	1368	48	3		3	DST	6	56417270	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	796815	56417270	114697797	3215	24140											
DST	667	broad.mit.edu	37	chr6	56417320	56417320	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctttagaaaggcttttatagTttccttttgcttttgcaatg	8	20	7	6	0	0	1	0	0	0	1	1	1	1	1	1	1	2	4	1	1	5	10			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:56417320T>C	ENST00000361203.3	-	57	15644	c.15637A>G	c.(15637-15639)Act>Gct	p.T5213A	DST_ENST00000244364.6_Missense_Mutation_p.T2801A|DST_ENST00000446842.2_Missense_Mutation_p.T4889A|DST_ENST00000370788.2_Missense_Mutation_p.T3127A|DST_ENST00000421834.2_Missense_Mutation_p.T3127A|DST_ENST00000370769.4_Missense_Mutation_p.T5215A|DST_ENST00000312431.6_3'UTR|DST_ENST00000370754.5_Missense_Mutation_p.T5393A			Q03001	DYST_HUMAN	dystonin	5213					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			GCTTTTATAGTTTCCTTTTGC	0.418																																						ENST00000370754.5																			0				NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105						c.(16177-16179)Act>Gct		dystonin							57	53	54					6																	56417320		1867	4088	5955	SO:0001583	missense	667				cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity	g.chr6:56417320T>C	M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"EF-hand domain containing"	1090	protein-coding gene	gene with protein product		113810	"bullous pemphigoid antigen 1, 230/240kDa"	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000361203.3:c.15637A>G	6.37:g.56417320T>C	ENSP00000354508:p.Thr5213Ala					DST_ENST00000370769.4_Missense_Mutation_p.T5215A|DST_ENST00000370788.2_Missense_Mutation_p.T3127A|DST_ENST00000312431.6_3'UTR|DST_ENST00000244364.6_Missense_Mutation_p.T2801A|DST_ENST00000361203.3_Missense_Mutation_p.T5213A|DST_ENST00000421834.2_Missense_Mutation_p.T3127A|DST_ENST00000446842.2_Missense_Mutation_p.T4889A	p.T5393A			Q03001	DYST_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)		61	16176	-	Lung NSC(77;0.103)		5213					B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Missense_Mutation	SNP	ENST00000361203.3	37	c.16177A>G		.	.	.	.	.	.	.	.	.	.	T	6.022	0.372439	0.11409	.	.	ENSG00000151914	ENST00000244364;ENST00000370754;ENST00000370769;ENST00000421834;ENST00000446842;ENST00000370788;ENST00000361203	T;T;T;T;T;T;T	0.33438	1.41;1.41;1.41;1.41;1.41;1.41;1.41	6.17	2.34	0.29019	.	1.053140	0.07490	N	0.905490	T	0.02047	0.0064	N	0.00483	-1.445	0.22213	N	0.999287	B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0	B;B;B;B;B	0.06405	0.0;0.0;0.002;0.0;0.0	T	0.42999	-0.9418	9	0.09084	T	0.74	.	6.711	0.23276	0.1293:0.6678:0.0:0.2029	.	3127;5215;5393;5213;2801	Q5TBT1;E7ERU2;E9PEB9;Q03001;Q03001-8	.;.;.;DYST_HUMAN;.	A	2801;5393;5215;3127;4889;3127;5213	ENSP00000244364:T2801A;ENSP00000359790:T5393A;ENSP00000359805:T5215A;ENSP00000400883:T3127A;ENSP00000393645:T4889A;ENSP00000359824:T3127A;ENSP00000354508:T5213A	ENSP00000244364:T2801A	T	-	1	0	DST	56525279	0.439000	0.25610	0.011000	0.14972	0.967000	0.64934	1.664000	0.37439	0.141000	0.18875	-0.242000	0.12053	ACT		0.418	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000041021.3	NM_001723		11	32	0	0	0	1	0	11	32					C	56417320	T	C	56417320	3	2	435	1	0	0	0	0	1	0	0	0	4783	1725	60	4	7286	4	DST	6	56417320	Missense_Mutation	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	50	56417320	114697747	3216	24141											
DST	667	broad.mit.edu	37	chr6	56481480	56481480	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagcaatttctggaggaacaCgaatgcctctcacagggtca	12	8	11	10	1	3	0	2	0	2	0	4	4	3	2	1	3	3	1	1	3	3	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:56481480C>T	ENST00000370765.6	-	24	6892	c.6785G>A	c.(6784-6786)cGt>cAt	p.R2262H	DST_ENST00000244364.6_Intron|DST_ENST00000446842.2_Intron|DST_ENST00000361203.3_Intron|DST_ENST00000370788.2_Intron|DST_ENST00000421834.2_Intron|DST_ENST00000370769.4_Intron|DST_ENST00000312431.6_Intron|DST_ENST00000370754.5_Intron	NM_001723.5	NP_001714.1	Q03001	DYST_HUMAN	dystonin	1604					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TGGAGGAACACGAATGCCTCT	0.448																																						ENST00000370765.6																			0				NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105						c.(6784-6786)cGt>cAt		dystonin							100	101	101					6																	56481480		2203	4300	6503	SO:0001583	missense	667				cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity	g.chr6:56481480C>T	M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"EF-hand domain containing"	1090	protein-coding gene	gene with protein product		113810	"bullous pemphigoid antigen 1, 230/240kDa"	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000370765.6:c.6785G>A	6.37:g.56481480C>T	ENSP00000359801:p.Arg2262His					DST_ENST00000370769.4_Intron|DST_ENST00000370754.5_Intron|DST_ENST00000370788.2_Intron|DST_ENST00000312431.6_Intron|DST_ENST00000244364.6_Intron|DST_ENST00000361203.3_Intron|DST_ENST00000421834.2_Intron|DST_ENST00000446842.2_Intron	p.R2262H	NM_001723.5	NP_001714.1	Q03001	DYST_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)		24	6892	-	Lung NSC(77;0.103)		1604					B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Missense_Mutation	SNP	ENST00000370765.6	37	c.6785G>A	CCDS4959.1	.	.	.	.	.	.	.	.	.	.	C	15.89	2.966527	0.53507	.	.	ENSG00000151914	ENST00000370765	T	0.78924	-1.22	5.77	5.77	0.91146	.	.	.	.	.	D	0.87981	0.6315	.	.	.	0.09310	N	0.999993	D	0.89917	1.0	D	0.91635	0.999	D	0.86776	0.1976	7	0.52906	T	0.07	.	20.3472	0.98799	0.0:1.0:0.0:0.0	.	2262	Q03001-3	.	H	2262	ENSP00000359801:R2262H	ENSP00000359801:R2262H	R	-	2	0	DST	56589439	1.000000	0.71417	0.978000	0.43139	0.996000	0.88848	7.776000	0.85560	2.890000	0.99128	0.650000	0.86243	CGT		0.448	DST-010	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000041027.2	NM_001723		34	48	0	0	0	1	0	34	48					T	56481480	C	T	56481480	3	4	435	1	0	0	0	0	1	0	0	0	4783	536	19	1	13614	1	DST	6	56481480	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	64160	56481480	114633587	3217	24142											
DST	667	broad.mit.edu	37	chr6	56481858	56481858	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	aaagccctgcaattgaggtgGctttcgtcagaaacttgtta	11	12	10	8	1	1	2	1	1	0	1	2	2	1	2	1	2	3	3	1	2	4	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:56481858G>C	ENST00000370765.6	-	24	6514	c.6407C>G	c.(6406-6408)gCc>gGc	p.A2136G	DST_ENST00000244364.6_Intron|DST_ENST00000446842.2_Intron|DST_ENST00000361203.3_Intron|DST_ENST00000370788.2_Intron|DST_ENST00000421834.2_Intron|DST_ENST00000370769.4_Intron|DST_ENST00000312431.6_Intron|DST_ENST00000370754.5_Intron	NM_001723.5	NP_001714.1	Q03001	DYST_HUMAN	dystonin	1893					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			AATTGAGGTGGCTTTCGTCAG	0.423																																						ENST00000370765.6																			0				NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105						c.(6406-6408)gCc>gGc		dystonin							50	51	51					6																	56481858		2203	4300	6503	SO:0001583	missense	667				cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity	g.chr6:56481858G>C	M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"EF-hand domain containing"	1090	protein-coding gene	gene with protein product		113810	"bullous pemphigoid antigen 1, 230/240kDa"	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000370765.6:c.6407C>G	6.37:g.56481858G>C	ENSP00000359801:p.Ala2136Gly					DST_ENST00000370769.4_Intron|DST_ENST00000370754.5_Intron|DST_ENST00000370788.2_Intron|DST_ENST00000312431.6_Intron|DST_ENST00000244364.6_Intron|DST_ENST00000361203.3_Intron|DST_ENST00000421834.2_Intron|DST_ENST00000446842.2_Intron	p.A2136G	NM_001723.5	NP_001714.1	Q03001	DYST_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)		24	6514	-	Lung NSC(77;0.103)		1527					B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Missense_Mutation	SNP	ENST00000370765.6	37	c.6407C>G	CCDS4959.1	.	.	.	.	.	.	.	.	.	.	G	13.10	2.136162	0.37728	.	.	ENSG00000151914	ENST00000370765	T	0.69306	-0.39	5.77	5.77	0.91146	.	.	.	.	.	T	0.33556	0.0867	.	.	.	0.09310	N	0.999997	B	0.14438	0.01	B	0.18561	0.022	T	0.08994	-1.0695	7	0.10111	T	0.7	.	15.1085	0.72338	0.0:0.0:0.8584:0.1416	.	2136	Q03001-3	.	G	2136	ENSP00000359801:A2136G	ENSP00000359801:A2136G	A	-	2	0	DST	56589817	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.579000	0.53900	2.890000	0.99128	0.650000	0.86243	GCC		0.423	DST-010	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000041027.2	NM_001723		23	40	0	0	0	1	0	23	40					C	56481858	G	C	56481858	3	2	435	1	0	0	0	0	1	0	0	0	4783	1203	42	5	13992	5	DST	6	56481858	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	378	56481858	114633209	3218	24143											
KIAA1586	57691	broad.mit.edu	37	chr6	56915637	56915637	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggtgatgatgaaaaccctagCgcctattatagtgatgtaag	13	11	11	6	1	0	4	0	4	0	0	0	4	0	4	2	1	2	1	2	1	7	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:56915637C>T	ENST00000370733.4	+	3	378	c.171C>T	c.(169-171)agC>agT	p.S57S	KIAA1586_ENST00000488682.1_3'UTR|KIAA1586_ENST00000545356.1_Intron	NM_020931.2	NP_065982.1	Q9HCI6	K1586_HUMAN	KIAA1586	57							nucleic acid binding (GO:0003676)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(9)|skin(1)	18	Lung NSC(77;0.0969)		LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)			AAAACCCTAGCGCCTATTATA	0.383																																						ENST00000370733.4																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(9)|skin(1)	18						c.(169-171)agC>agT		KIAA1586							260	222	235					6																	56915637		2203	4300	6503	SO:0001819	synonymous_variant	57691						nucleic acid binding	g.chr6:56915637C>T	AB046806	CCDS34480.1, CCDS69138.1	6p12.1	2014-03-27			ENSG00000168116	ENSG00000168116			21360	protein-coding gene	gene with protein product						10997877	Standard	NM_001286274		Approved		uc003pdj.3	Q9HCI6	OTTHUMG00000014915	ENST00000370733.4:c.171C>T	6.37:g.56915637C>T						KIAA1586_ENST00000488682.1_3'UTR|KIAA1586_ENST00000545356.1_Intron	p.S57S	NM_020931.2	NP_065982.1	Q9HCI6	K1586_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)		3	378	+	Lung NSC(77;0.0969)		57					A8K4M3|Q8IW25	Silent	SNP	ENST00000370733.4	37	c.171C>T	CCDS34480.1																																																																																				0.383	KIAA1586-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041033.1	NM_020931		43	78	0	0	0	1	0	43	78					T	56915637	C	T	56915637	2	4	435	1	0	0	0	0	0	0	0	1	8245	767	27	1		1	KIAA1586	6	56915637	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	433779	56915637	114199430	3219	24144											
BAG2	9532	broad.mit.edu	37	chr6	57048805	57048805	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggtgccacatgggccagtTgatcagaagtttcaatccat	11	10	11	9	0	2	2	2	1	0	1	3	3	3	2	3	2	1	2	3	2	2	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:57048805T>C	ENST00000370693.5	+	3	825	c.453T>C	c.(451-453)gtT>gtC	p.V151V	BAG2_ENST00000545080.1_Silent_p.V118V	NM_004282.3	NP_004273.1	O95816	BAG2_HUMAN	BCL2-associated athanogene 2	151	BAG. {ECO:0000255|PROSITE- ProRule:PRU00369}.				protein folding (GO:0006457)|protein metabolic process (GO:0019538)		identical protein binding (GO:0042802)			endometrium(1)|large_intestine(1)	2	Lung NSC(77;0.126)		LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)			ATGGGCCAGTTGATCAGAAGT	0.393																																						ENST00000370693.5																			0				endometrium(1)|large_intestine(1)	2						c.(451-453)gtT>gtC		BCL2-associated athanogene 2							108	103	105					6																	57048805		2203	4300	6503	SO:0001819	synonymous_variant	9532				apoptosis|protein folding		protein binding	g.chr6:57048805T>C	AF095192	CCDS4961.1	6p12.3-p11.2	2008-02-05			ENSG00000112208	ENSG00000112208			938	protein-coding gene	gene with protein product		603882				9873016	Standard	NM_004282		Approved		uc003pdr.3	O95816	OTTHUMG00000014919	ENST00000370693.5:c.453T>C	6.37:g.57048805T>C						BAG2_ENST00000545080.1_Silent_p.V118V	p.V151V	NM_004282.3	NP_004273.1	O95816	BAG2_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)		3	825	+	Lung NSC(77;0.126)		151			BAG.		B4DXE2|Q08AS9|Q6FID0	Silent	SNP	ENST00000370693.5	37	c.453T>C	CCDS4961.1																																																																																				0.393	BAG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041044.2			32	54	0	0	0	1	0	32	54					C	57048805	T	C	57048805	2	2	435	1	0	0	0	0	0	0	0	1	1287	1799	63	4		4	BAG2	6	57048805	Silent	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	133168	57048805	114066262	3220	24145											
PRIM2	5558	broad.mit.edu	37	chr6	57246843	57246843	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attcagatcccttttgctgaTgctctggatttgtttcgagg	6	17	10	8	1	2	2	1	1	1	1	4	4	3	3	1	2	2	3	1	2	0	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:57246843T>C	ENST00000607273.1	+	7	657	c.570T>C	c.(568-570)gaT>gaC	p.D190D	PRIM2_ENST00000389488.2_3'UTR	NM_000947.3	NP_000938.2	P49643	PRI2_HUMAN	primase, DNA, polypeptide 2 (58kDa)	190					DNA replication initiation (GO:0006270)|DNA replication, synthesis of RNA primer (GO:0006269)|DNA strand elongation involved in DNA replication (GO:0006271)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)	nucleoplasm (GO:0005654)|primosome complex (GO:1990077)	4 iron, 4 sulfur cluster binding (GO:0051539)|DNA binding (GO:0003677)|DNA primase activity (GO:0003896)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(34)|prostate(6)|stomach(4)|upper_aerodigestive_tract(1)	59				Colorectal(6;0.041)|READ - Rectum adenocarcinoma(7;0.193)		CTTTTGCTGATGCTCTGGATT	0.363																																						ENST00000607273.1																			0				NS(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(34)|prostate(6)|stomach(4)|upper_aerodigestive_tract(1)	59						c.(568-570)gaT>gaC		primase, DNA, polypeptide 2 (58kDa)							137	117	123					6																	57246843		1922	4148	6070	SO:0001819	synonymous_variant	5558				DNA replication, synthesis of RNA primer|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	alpha DNA polymerase:primase complex|nucleoplasm	4 iron, 4 sulfur cluster binding|DNA binding|DNA primase activity|metal ion binding	g.chr6:57246843T>C		CCDS75476.1, CCDS75477.1	6p12-p11.1	2013-01-31	2007-06-19	2007-06-19	ENSG00000146143	ENSG00000146143			9370	protein-coding gene	gene with protein product		176636	"primase, polypeptide 2A (58kD)", "primase, polypeptide 2A, 58kDa"	PRIM2A		8530050, 20675616	Standard	NM_001282487		Approved		uc003pdx.3	P49643	OTTHUMG00000016190	ENST00000607273.1:c.570T>C	6.37:g.57246843T>C						PRIM2_ENST00000389488.2_3'UTR	p.D190D	NM_000947.2	NP_000938.2	P49643	PRI2_HUMAN		Colorectal(6;0.041)|READ - Rectum adenocarcinoma(7;0.193)	7	657	+			190					Q53FJ8|Q6P1Q7|Q8WVL2|Q9H413	Silent	SNP	ENST00000607273.1	37	c.570T>C																																																																																					0.363	PRIM2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_000947		5	26	0	0	0	1	0	5	26					C	57246843	T	C	57246843	2	2	435	1	0	0	0	0	0	0	0	1	12491	1461	51	4		4	PRIM2	6	57246843	Silent	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	198038	57246843	113868224	3221	24146											
PRIM2	5558	broad.mit.edu	37	chr6	57246965	57246965	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caaactgtccaaggctttggCagtgagtattttacttgatt	10	15	9	7	0	0	2	0	2	0	0	1	2	1	2	1	2	2	3	1	2	4	6			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:57246965C>T	ENST00000607273.1	+	7	779	c.692C>T	c.(691-693)gCa>gTa	p.A231V	PRIM2_ENST00000389488.2_3'UTR	NM_000947.3	NP_000938.2	P49643	PRI2_HUMAN	primase, DNA, polypeptide 2 (58kDa)	231					DNA replication initiation (GO:0006270)|DNA replication, synthesis of RNA primer (GO:0006269)|DNA strand elongation involved in DNA replication (GO:0006271)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)	nucleoplasm (GO:0005654)|primosome complex (GO:1990077)	4 iron, 4 sulfur cluster binding (GO:0051539)|DNA binding (GO:0003677)|DNA primase activity (GO:0003896)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(34)|prostate(6)|stomach(4)|upper_aerodigestive_tract(1)	59				Colorectal(6;0.041)|READ - Rectum adenocarcinoma(7;0.193)		AAGGCTTTGGCAGTGAGTATT	0.368																																						ENST00000607273.1																			0				NS(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(34)|prostate(6)|stomach(4)|upper_aerodigestive_tract(1)	59						c.e7+1		primase, DNA, polypeptide 2 (58kDa)							140	124	129					6																	57246965		1911	4133	6044	SO:0001630	splice_region_variant	5558				DNA replication, synthesis of RNA primer|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	alpha DNA polymerase:primase complex|nucleoplasm	4 iron, 4 sulfur cluster binding|DNA binding|DNA primase activity|metal ion binding	g.chr6:57246965C>T		CCDS75476.1, CCDS75477.1	6p12-p11.1	2013-01-31	2007-06-19	2007-06-19	ENSG00000146143	ENSG00000146143			9370	protein-coding gene	gene with protein product		176636	"primase, polypeptide 2A (58kD)", "primase, polypeptide 2A, 58kDa"	PRIM2A		8530050, 20675616	Standard	NM_001282487		Approved		uc003pdx.3	P49643	OTTHUMG00000016190	ENST00000607273.1:c.693+1C>T	6.37:g.57246965C>T						PRIM2_ENST00000389488.2_3'UTR	p.A231_splice	NM_000947.2	NP_000938.2	P49643	PRI2_HUMAN		Colorectal(6;0.041)|READ - Rectum adenocarcinoma(7;0.193)	7	779	+			231					Q53FJ8|Q6P1Q7|Q8WVL2|Q9H413	Splice_Site	SNP	ENST00000607273.1	37	c.693_splice																																																																																					0.368	PRIM2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_000947	Missense_Mutation	6	45	0	0	0	1	0	6	45					T	57246965	C	T	57246965	5	4	435	1	0	0	0	0	0	0	1	0	12491	724	25	3	714	3	PRIM2	6	57246965	Splice_Site	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	122	57246965	113868102	3222	24147											
LGSN	51557	broad.mit.edu	37	chr6	64029819	64029819	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tttaatgattagcttcatacCtcctgcagaaggtcctcttc	9	15	6	11	0	2	2	1	1	1	1	5	2	4	2	3	1	3	2	3	1	4	6			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:64029819C>A	ENST00000370657.4	-	1	63	c.30G>T	c.(28-30)gaG>gaT	p.E10D	LGSN_ENST00000370658.5_Splice_Site_p.E10D			Q5TDP6	LGSN_HUMAN	lengsin, lens protein with glutamine synthetase domain	10					glutamine biosynthetic process (GO:0006542)	plasma membrane (GO:0005886)	glutamate-ammonia ligase activity (GO:0004356)			NS(1)|endometrium(2)|large_intestine(5)|lung(16)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						AGCTTCATACCTCCTGCAGAA	0.303																																						ENST00000370658.5																			0				NS(1)|endometrium(2)|large_intestine(5)|lung(16)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						c.e1+1		lengsin, lens protein with glutamine synthetase domain	L-Glutamic Acid(DB00142)						95	89	91					6																	64029819		2203	4299	6502	SO:0001630	splice_region_variant	51557				glutamine biosynthetic process		glutamate-ammonia ligase activity	g.chr6:64029819C>A	AF242388	CCDS4964.1, CCDS55027.1	6q12	2013-09-19	2008-09-19	2008-09-19	ENSG00000146166	ENSG00000146166			21016	protein-coding gene	gene with protein product		611470	"glutamate-ammonia ligase (glutamine synthetase) domain containing 1"	GLULD1		12107412	Standard	NM_016571		Approved	LGS	uc003peh.3	Q5TDP6	OTTHUMG00000014946	ENST00000370657.4:c.30+1G>T	6.37:g.64029819C>A						LGSN_ENST00000370657.4_Splice_Site_p.E10_splice	p.E10_splice	NM_001143940.1|NM_016571.2	NP_001137412.1|NP_057655.2	Q5TDP6	LGSN_HUMAN			1	63	-			10					A1L421|Q0PVN9|Q0PVP0|Q9NYJ0	Splice_Site	SNP	ENST00000370657.4	37	c.30_splice	CCDS4964.1	.	.	.	.	.	.	.	.	.	.	C	10.70	1.424879	0.25639	.	.	ENSG00000146166	ENST00000370658;ENST00000370657	T;T	0.27256	1.68;1.77	5.41	5.41	0.78517	.	0.834487	0.10611	N	0.654453	T	0.17874	0.0429	L	0.51422	1.61	0.27155	N	0.961301	P;B;P	0.46987	0.799;0.361;0.888	B;B;P	0.44561	0.259;0.121;0.453	T	0.07501	-1.0769	9	.	.	.	-6.4445	14.6963	0.69124	0.0:1.0:0.0:0.0	.	10;10;10	Q5TDP6-3;Q5TDP6-2;Q5TDP6	.;.;LGSN_HUMAN	D	10	ENSP00000359692:E10D;ENSP00000359691:E10D	.	E	-	3	2	LGSN	64087778	1.000000	0.71417	1.000000	0.80357	0.262000	0.26303	3.454000	0.52986	2.542000	0.85734	0.585000	0.79938	GAG		0.303	LGSN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041076.2	NM_016571	Missense_Mutation	12	19	1	0	1.08611e-07	1	1.14056e-07	12	19					A	64029819	C	A	64029819	5	1	435	1	0	0	0	0	0	0	1	0	8759	695	24	5	1515	5	LGSN	6	64029819	Splice_Site	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	6782854	64029819	107085248	3223	24148											
PHF3	23469	broad.mit.edu	37	chr6	64395427	64395427	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctttgagtgataagtcacacGctcatcctggttgcttgaaa	10	13	9	9	1	2	3	2	3	0	0	3	3	3	3	1	1	1	3	1	1	2	4	rs200059706		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:64395427G>A	ENST00000262043.3	+	4	2144	c.1804G>A	c.(1804-1806)Gct>Act	p.A602T	PHF3_ENST00000393387.1_Missense_Mutation_p.A602T|PHF3_ENST00000509330.1_Missense_Mutation_p.A602T			Q92576	PHF3_HUMAN	PHD finger protein 3	602					multicellular organismal development (GO:0007275)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)			TAAGTCACACGCTCATCCTGG	0.408													G|||	1	0.000199681	0	0.0014	5008	,	,		19721	0		0	False		,,,				2504	0				GBM(135;136 1820 29512 34071 46235)	ENST00000262043.3																			0				breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75						c.(1804-1806)Gct>Act		PHD finger protein 3		G	THR/ALA	1,4405	2.1+/-5.4	0,1,2202	77	71	73		1804	4	0	6		73	0,8600		0,0,4300	yes	missense	PHF3	NM_015153.2	58	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	602/2040	64395427	1,13005	2203	4300	6503	SO:0001583	missense	23469				multicellular organismal development|transcription, DNA-dependent	nucleus	zinc ion binding	g.chr6:64395427G>A	AF091622	CCDS4966.1	6q12	2013-09-24			ENSG00000118482	ENSG00000118482		"Zinc fingers, PHD-type"	8921	protein-coding gene	gene with protein product		607789				11856869	Standard	XM_005248701		Approved		uc003pep.1	Q92576	OTTHUMG00000014952	ENST00000262043.3:c.1804G>A	6.37:g.64395427G>A	ENSP00000262043:p.Ala602Thr					PHF3_ENST00000393387.1_Missense_Mutation_p.A602T|PHF3_ENST00000509330.1_Missense_Mutation_p.A602T	p.A602T			Q92576	PHF3_HUMAN	LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)		4	2144	+	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		602					A3KFI8|Q14CR5|Q5CZI1|Q5T1T6|Q9NQ16|Q9UI45	Missense_Mutation	SNP	ENST00000262043.3	37	c.1804G>A	CCDS4966.1	.	.	.	.	.	.	.	.	.	.	G	0.358	-0.940916	0.02322	2.27E-4	0.0	ENSG00000118482	ENST00000506783;ENST00000481385;ENST00000262043;ENST00000494284;ENST00000509330;ENST00000393387	T;T;T;T;T;T	0.41065	2.34;2.02;2.33;2.01;1.01;2.33	5.77	3.99	0.46301	.	0.376734	0.19432	N	0.114420	T	0.08447	0.0210	N	0.14661	0.345	0.09310	N	1	B;B	0.23540	0.003;0.087	B;B	0.13407	0.002;0.009	T	0.30592	-0.9973	10	0.15952	T	0.53	-10.1744	9.4204	0.38548	0.2314:0.0:0.7686:0.0	.	602;602	Q92576;D6R9X2	PHF3_HUMAN;.	T	416;514;602;555;602;602	ENSP00000424694:A416T;ENSP00000425227:A514T;ENSP00000262043:A602T;ENSP00000424078:A555T;ENSP00000422841:A602T;ENSP00000377048:A602T	ENSP00000262043:A602T	A	+	1	0	PHF3	64453386	0.000000	0.05858	0.038000	0.18304	0.032000	0.12392	0.314000	0.19432	0.785000	0.33685	0.591000	0.81541	GCT		0.408	PHF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041086.2			18	32	0	0	0	1	0	18	32					A	64395427	G	A	64395427	3	1	435	1	0	0	0	0	1	0	0	0	11836	1087	38	1	1814	1	PHF3	6	64395427	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	365608	64395427	106719640	3224	24149											
COL19A1	1310	broad.mit.edu	37	chr6	70909410	70909410	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	caccagggaaggatgggttgCctgggccaccaggagaccct	9	5	15	12	0	0	1	0	0	0	1	0	4	0	3	5	5	1	1	5	5	1	1	rs372101279		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:70909410C>T	ENST00000322773.4	+	49	3295	c.3193C>T	c.(3193-3195)Cct>Tct	p.P1065S	COL19A1_ENST00000393344.1_Missense_Mutation_p.P687S	NM_001858.4	NP_001849.2	Q14993	COJA1_HUMAN	collagen, type XIX, alpha 1	1065	Triple-helical region 6 (COL6).				cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|single organismal cell-cell adhesion (GO:0016337)|skeletal muscle tissue development (GO:0007519)|skeletal system development (GO:0001501)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|protein binding, bridging (GO:0030674)			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						GGATGGGTTGCCTGGGCCACC	0.493																																						ENST00000322773.4																			0				breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						c.(3193-3195)Cct>Tct		collagen, type XIX, alpha 1		C	SER/PRO	1,4405	2.1+/-5.4	0,1,2202	65	70	68		3193	5.9	1	6		68	0,8600		0,0,4300	no	missense	COL19A1	NM_001858.4	74	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	1065/1143	70909410	1,13005	2203	4300	6503	SO:0001583	missense	1310				cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development	collagen	extracellular matrix structural constituent|protein binding, bridging	g.chr6:70909410C>T		CCDS4970.1	6q12-q13	2013-01-16			ENSG00000082293	ENSG00000082293		"Collagens"	2196	protein-coding gene	gene with protein product		120165				7916703, 9143499	Standard	NM_001858		Approved		uc003pfc.1	Q14993	OTTHUMG00000014987	ENST00000322773.4:c.3193C>T	6.37:g.70909410C>T	ENSP00000316030:p.Pro1065Ser					COL19A1_ENST00000393344.1_Missense_Mutation_p.P687S	p.P1065S	NM_001858.4	NP_001849.2	Q14993	COJA1_HUMAN			49	3295	+			1065			Triple-helical region 6 (COL6).		Q00559|Q05850|Q12885|Q13676|Q14DH1|Q5JUF0|Q5T424|Q9H572|Q9NPZ2|Q9NQP2	Missense_Mutation	SNP	ENST00000322773.4	37	c.3193C>T	CCDS4970.1	.	.	.	.	.	.	.	.	.	.	C	18.40	3.615523	0.66672	2.27E-4	0.0	ENSG00000082293	ENST00000322773;ENST00000393344;ENST00000393333	D;D	0.95885	-3.84;-3.84	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	D	0.97685	0.9241	M	0.81179	2.53	0.51233	D	0.999914	D	0.89917	1.0	D	0.83275	0.996	D	0.96667	0.9493	10	0.44086	T	0.13	.	20.3011	0.98612	0.0:1.0:0.0:0.0	.	1065	Q14993	COJA1_HUMAN	S	1065;687;140	ENSP00000316030:P1065S;ENSP00000377013:P687S	ENSP00000316030:P1065S	P	+	1	0	COL19A1	70966131	0.999000	0.42202	1.000000	0.80357	0.995000	0.86356	5.326000	0.65875	2.804000	0.96469	0.650000	0.86243	CCT		0.493	COL19A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041127.1			16	39	0	0	0	1	0	16	39					T	70909410	C	T	70909410	3	4	435	1	0	0	0	0	1	0	0	0	3676	739	26	3	3383	3	COL19A1	6	70909410	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	6513983	70909410	100205657	3225	24150											
COL9A1	1297	broad.mit.edu	37	chr6	70948980	70948980	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tccctttgggccaggtaatcCtatatctccctaaatcaata	11	13	5	12	0	2	0	1	0	1	0	5	0	4	0	4	2	0	1	4	2	7	6			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:70948980C>A	ENST00000357250.6	-	33	2247	c.2089G>T	c.(2089-2091)Gga>Tga	p.G697*	COL9A1_ENST00000489611.1_5'UTR|COL9A1_ENST00000370499.4_Nonsense_Mutation_p.G454*|RP1-149L1.1_ENST00000522264.1_RNA|COL9A1_ENST00000320755.7_Nonsense_Mutation_p.G454*	NM_001851.4	NP_001842.3	P20849	CO9A1_HUMAN	collagen, type IX, alpha 1	697	Collagen-like 7.|Triple-helical region (COL2).				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|growth plate cartilage development (GO:0003417)|organ morphogenesis (GO:0009887)|tissue homeostasis (GO:0001894)	collagen type IX trimer (GO:0005594)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)|metal ion binding (GO:0046872)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(44)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)	80						CCAGGTAATCCTATATCTCCC	0.259																																						ENST00000357250.6																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(44)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)	80						c.(2089-2091)Gga>Tga		collagen, type IX, alpha 1							59	65	63					6																	70948980		2202	4295	6497	SO:0001587	stop_gained	1297				axon guidance|cell adhesion|organ morphogenesis	collagen type IX	metal ion binding	g.chr6:70948980C>A		CCDS4971.1, CCDS47447.1	6q13	2013-05-07			ENSG00000112280	ENSG00000112280		"Proteoglycans / Extracellular Matrix : Collagen proteoglycans", "Collagens"	2217	protein-coding gene	gene with protein product		120210				1429648	Standard	NM_001851		Approved		uc003pfg.4	P20849	OTTHUMG00000014988	ENST00000357250.6:c.2089G>T	6.37:g.70948980C>A	ENSP00000349790:p.Gly697*					RP1-149L1.1_ENST00000522264.1_RNA|COL9A1_ENST00000370499.4_Nonsense_Mutation_p.G454*|COL9A1_ENST00000320755.7_Nonsense_Mutation_p.G454*|COL9A1_ENST00000489611.1_5'UTR	p.G697*	NM_001851.4	NP_001842.3	P20849	CO9A1_HUMAN			33	2247	-			697			Triple-helical region (COL2).		Q13699|Q13700|Q5TF52|Q6P467|Q96BM8|Q99225|Q9H151|Q9H152|Q9Y6P2|Q9Y6P3	Nonsense_Mutation	SNP	ENST00000357250.6	37	c.2089G>T	CCDS4971.1	.	.	.	.	.	.	.	.	.	.	C	37	6.218264	0.97385	.	.	ENSG00000112280	ENST00000357250;ENST00000320755;ENST00000370499	.	.	.	5.45	5.45	0.79879	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	19.6531	0.95825	0.0:1.0:0.0:0.0	.	.	.	.	X	697;454;454	.	ENSP00000315252:G454X	G	-	1	0	COL9A1	71005701	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	4.943000	0.63554	2.715000	0.92844	0.650000	0.86243	GGA		0.259	COL9A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041131.2			7	82	1	0	5.4927e-09	1	5.81457e-09	7	82					A	70948980	C	A	70948980	4	1	435	1	0	0	0	0	0	1	0	0	3707	690	24	5	700	5	COL9A1	6	70948980	Nonsense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	39570	70948980	100166087	3226	24151											
RIMS1	22999	broad.mit.edu	37	chr6	72967959	72967959	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcagggaaagccgcgttcaCgtttaccaaatgtgccatta	12	10	9	10	3	2	0	2	0	0	0	2	1	2	1	3	1	3	2	3	1	4	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:72967959C>T	ENST00000521978.1	+	17	2902	c.2902C>T	c.(2902-2904)Cgt>Tgt	p.R968C	RIMS1_ENST00000401910.3_Missense_Mutation_p.R441C|RIMS1_ENST00000523963.1_Missense_Mutation_p.R442C|RIMS1_ENST00000538414.1_5'UTR|RIMS1_ENST00000520567.1_Missense_Mutation_p.R967C|RIMS1_ENST00000425662.2_Missense_Mutation_p.R361C|RIMS1_ENST00000491071.2_Missense_Mutation_p.R968C|RIMS1_ENST00000522291.1_Missense_Mutation_p.R967C|RIMS1_ENST00000348717.5_Missense_Mutation_p.R967C|RIMS1_ENST00000517960.1_Missense_Mutation_p.R967C|RIMS1_ENST00000518273.1_Missense_Mutation_p.R968C|RIMS1_ENST00000264839.7_Missense_Mutation_p.R968C|RIMS1_ENST00000517827.1_Missense_Mutation_p.R427C	NM_014989.5	NP_055804.2	Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1	968					calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|glutamate secretion (GO:0014047)|intracellular protein transport (GO:0006886)|membrane fusion (GO:0061025)|neurotransmitter secretion (GO:0007269)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of gene expression (GO:0010628)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|protein complex assembly (GO:0006461)|regulated secretory pathway (GO:0045055)|regulation of catalytic activity (GO:0050790)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of neurotransmitter secretion (GO:0046928)|response to stimulus (GO:0050896)|secretion (GO:0046903)|synaptic transmission (GO:0007268)|synaptic vesicle exocytosis (GO:0016079)|visual perception (GO:0007601)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|Rab GTPase binding (GO:0017137)|small GTPase regulator activity (GO:0005083)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	102		all_epithelial(107;0.179)|all_hematologic(105;0.212)				GCCGCGTTCACGTTTACCAAA	0.433																																						ENST00000264839.7																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	102						c.(2902-2904)Cgt>Tgt		regulating synaptic membrane exocytosis 1							76	72	73					6																	72967959		1945	4141	6086	SO:0001583	missense	0				calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding	g.chr6:72967959C>T	AB002338	CCDS47449.1, CCDS55029.1, CCDS55030.1, CCDS55031.1, CCDS55032.1, CCDS55033.1	6q12-q13	2008-10-16	2002-06-12	2002-06-14	ENSG00000079841	ENSG00000079841			17282	protein-coding gene	gene with protein product	"Rab3-interacting molecule"	606629	"RAB3 interacting protein 2"	RAB3IP2, CORD7		9205841, 11438518	Standard	NM_001168407		Approved	RIM, KIAA0340, RIM1	uc003pga.4	Q86UR5	OTTHUMG00000015009	ENST00000521978.1:c.2902C>T	6.37:g.72967959C>T	ENSP00000428417:p.Arg968Cys					RIMS1_ENST00000348717.5_Missense_Mutation_p.R967C|RIMS1_ENST00000491071.2_Missense_Mutation_p.R968C|RIMS1_ENST00000401910.3_Missense_Mutation_p.R441C|RIMS1_ENST00000521978.1_Missense_Mutation_p.R968C|RIMS1_ENST00000425662.2_Missense_Mutation_p.R361C|RIMS1_ENST00000520567.1_Missense_Mutation_p.R967C|RIMS1_ENST00000517827.1_Missense_Mutation_p.R427C|RIMS1_ENST00000522291.1_Missense_Mutation_p.R967C|RIMS1_ENST00000518273.1_Missense_Mutation_p.R968C|RIMS1_ENST00000538414.1_5'UTR|RIMS1_ENST00000523963.1_Missense_Mutation_p.R442C|RIMS1_ENST00000517960.1_Missense_Mutation_p.R967C	p.R968C			Q86UR5	RIMS1_HUMAN			17	2902	+		all_epithelial(107;0.179)|all_hematologic(105;0.212)	968					A7MBN6|B7Z2M0|B7Z2Q9|B7Z3S3|B7Z6S2|E7EX08|E9PCB7|E9PCZ1|E9PF48|E9PHF5|E9PHR1|O15048|Q5JY21|Q5JY25|Q5SZK1|Q8TDY9|Q8TDZ5|Q9HBA1|Q9HBA2|Q9HBA3|Q9HBA4|Q9HBA5|Q9HBA6	Missense_Mutation	SNP	ENST00000521978.1	37	c.2902C>T	CCDS47449.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	23.4|23.4	4.415501|4.415501	0.83449|0.83449	.|.	.|.	ENSG00000079841|ENSG00000079841	ENST00000491071;ENST00000350827;ENST00000352008;ENST00000348717;ENST00000349908;ENST00000346609;ENST00000264839;ENST00000517960;ENST00000518273;ENST00000520567;ENST00000522291;ENST00000521978;ENST00000401910;ENST00000523963;ENST00000425662;ENST00000453976;ENST00000517827;ENST00000370420|ENST00000517433	T;T;T;T;T;T;T;T;T;T;T;T;T;T|.	0.23950|.	2.19;2.47;2.18;2.47;2.38;2.36;2.42;2.23;2.34;2.33;2.41;2.4;2.39;1.88|.	5.19|5.19	5.19|5.19	0.71726|0.71726	.|.	0.000000|.	0.64402|.	D|.	0.000005|.	T|T	0.64091|0.64091	0.2567|0.2567	L|L	0.54323|0.54323	1.7|1.7	0.80722|0.80722	D|D	1|1	D;D;D;D;D;D;D;D;D;D;D;D|.	0.89917|.	1.0;1.0;1.0;1.0;1.0;1.0;0.992;1.0;1.0;1.0;1.0;1.0|.	D;D;D;D;D;D;P;D;D;D;D;D|.	0.91635|.	0.915;0.985;0.997;0.997;0.95;0.999;0.644;0.972;0.988;0.993;0.997;0.997|.	T|T	0.61686|0.61686	-0.7012|-0.7012	10|5	0.52906|.	T|.	0.07|.	-14.5517|-14.5517	18.729|18.729	0.91728|0.91728	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	427;442;968;427;441;967;220;968;967;221;968;968|.	B7Z3S3;E9PHF5;E9PHR1;B7Z9Z3;E9PF48;E7EX08;Q5JY22;E7ERQ1;E7ENC2;Q5JY21;C9JNW6;Q86UR5|.	.;.;.;.;.;.;.;.;.;.;.;RIMS1_HUMAN|.	C|M	968;968;968;967;968;967;968;967;968;967;967;968;441;442;361;361;427;193|541	ENSP00000430101:R968C;ENSP00000275037:R967C;ENSP00000264839:R968C;ENSP00000429959:R967C;ENSP00000430408:R968C;ENSP00000430502:R967C;ENSP00000430932:R967C;ENSP00000428417:R968C;ENSP00000385649:R441C;ENSP00000428328:R442C;ENSP00000411235:R361C;ENSP00000389503:R361C;ENSP00000428367:R427C;ENSP00000359448:R193C|.	ENSP00000264839:R968C|.	R|T	+|+	1|2	0|0	RIMS1|RIMS1	73024680|73024680	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.946000|0.946000	0.59487|0.59487	4.641000|4.641000	0.61375|0.61375	2.434000|2.434000	0.82447|0.82447	0.585000|0.585000	0.79938|0.79938	CGT|ACG		0.433	RIMS1-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374968.1			12	17	0	0	0	1	0	12	17					T	72967959	C	T	72967959	3	4	435	1	0	0	0	0	1	0	0	0	13367	536	19	1	3131	1	RIMS1	6	72967959	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	2018979	72967959	98147108	3227	24152											
SLC17A5	26503	broad.mit.edu	37	chr6	74331564	74331564	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttaggatctccttcatataaGtaggcaataatgtcaataaa	16	13	6	6	0	3	0	2	0	1	0	4	1	3	1	1	2	0	2	1	2	9	7			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:74331564G>T	ENST00000355773.5	-	7	1209	c.941C>A	c.(940-942)aCt>aAt	p.T314N	SLC17A5_ENST00000393019.3_3'UTR	NM_012434.4	NP_036566.1	Q9NRA2	S17A5_HUMAN	solute carrier family 17 (acidic sugar transporter), member 5	314					amino acid transport (GO:0006865)|anion transport (GO:0006820)|ion transport (GO:0006811)|proton transport (GO:0015992)|sialic acid transport (GO:0015739)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|plasma membrane (GO:0005886)|synapse (GO:0045202)	sialic acid transmembrane transporter activity (GO:0015136)|sugar:proton symporter activity (GO:0005351)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						CTTCATATAAGTAGGCAATAA	0.343																																						ENST00000355773.5																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(940-942)aCt>aAt		solute carrier family 17 (acidic sugar transporter), member 5							45	46	46					6																	74331564		2203	4300	6503	SO:0001583	missense	26503				anion transport	integral to plasma membrane|lysosomal membrane|membrane fraction	sialic acid:hydrogen symporter activity	g.chr6:74331564G>T	AJ387747	CCDS4981.1	6q13	2013-07-18	2013-07-18		ENSG00000119899	ENSG00000119899		"Solute carriers"	10933	protein-coding gene	gene with protein product		604322	"sialic acid storage disease", "solute carrier family 17 (anion/sugar transporter), member 5"	SIASD		10581036, 8198127	Standard	NM_012434		Approved	AST, SD, ISSD, NSD, SIALIN, SLD	uc003phn.4	Q9NRA2	OTTHUMG00000015039	ENST00000355773.5:c.941C>A	6.37:g.74331564G>T	ENSP00000348019:p.Thr314Asn					SLC17A5_ENST00000393019.3_3'UTR	p.T314N	NM_012434.4	NP_036566.1	Q9NRA2	S17A5_HUMAN			7	1209	-			314					Q5SZ76|Q8NBR5|Q9UGH0	Missense_Mutation	SNP	ENST00000355773.5	37	c.941C>A	CCDS4981.1	.	.	.	.	.	.	.	.	.	.	G	18.20	3.570397	0.65765	.	.	ENSG00000119899	ENST00000355773	T	0.60424	0.19	5.82	5.82	0.92795	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	T	0.77232	0.4100	M	0.85945	2.785	0.80722	D	1	D;D	0.89917	0.974;1.0	P;D	0.78314	0.897;0.991	T	0.79422	-0.1810	10	0.72032	D	0.01	.	20.0864	0.97801	0.0:0.0:1.0:0.0	.	376;314	E1P537;Q9NRA2	.;S17A5_HUMAN	N	314	ENSP00000348019:T314N	ENSP00000348019:T314N	T	-	2	0	SLC17A5	74388285	1.000000	0.71417	0.999000	0.59377	0.327000	0.28475	9.255000	0.95524	2.758000	0.94735	0.555000	0.69702	ACT		0.343	SLC17A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041228.1			10	18	1	0	0.00621372	1	0.00628055	10	18					T	74331564	G	T	74331564	3	4	435	1	0	0	0	0	1	0	0	0	14420	1029	36	5	566	5	SLC17A5	6	74331564	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	1363605	74331564	96783503	3228	24153											
CD109	135228	broad.mit.edu	37	chr6	74516566	74516566	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tttttttctcttttcataaaGgttgtcagcttttgttttaa	7	24	5	5	0	3	0	2	0	1	0	4	0	3	0	0	1	1	3	0	1	3	11			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:74516566G>T	ENST00000287097.5	+	25	3072		c.e25-1		CD109_ENST00000437994.2_Splice_Site|CD109_ENST00000422508.2_Splice_Site			Q6YHK3	CD109_HUMAN	CD109 molecule						negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of wound healing (GO:0061045)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	serine-type endopeptidase inhibitor activity (GO:0004867)|transforming growth factor beta binding (GO:0050431)			NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						TTTTCATAAAGGTTGTCAGCT	0.343																																						ENST00000437994.2																			0				NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						c.e25-1		CD109 molecule							37	34	35					6																	74516566		2202	4299	6501	SO:0001630	splice_region_variant	135228					anchored to membrane|extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity	g.chr6:74516566G>T	AF410459	CCDS4982.1, CCDS55038.1, CCDS55039.1	6q14.1	2008-02-05	2006-03-28		ENSG00000156535	ENSG00000156535		"CD molecules"	21685	protein-coding gene	gene with protein product		608859	"CD109 antigen (Gov platelet alloantigens)"			11861284, 11861285	Standard	XM_005248659		Approved	FLJ38569, DKFZp762L1111, CPAMD7	uc003php.3	Q6YHK3	OTTHUMG00000015040	ENST00000287097.5:c.2961-1G>T	6.37:g.74516566G>T						CD109_ENST00000287097.5_Splice_Site|CD109_ENST00000422508.2_Splice_Site		NM_001159587.1|NM_133493.3	NP_001153059.1|NP_598000.2	Q6YHK3	CD109_HUMAN			25	3391	+								A5YKK4|B2R948|B3KW25|Q0P6K7|Q5SYA8|Q5XUM7|Q5XUM9|Q6MZI7|Q8N3A7|Q8N915|Q8TDJ2|Q8TDJ3	Splice_Site	SNP	ENST00000287097.5	37		CCDS4982.1	.	.	.	.	.	.	.	.	.	.	G	19.66	3.868923	0.72065	.	.	ENSG00000156535	ENST00000437994;ENST00000422508;ENST00000287097	.	.	.	4.62	4.62	0.57501	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.0111	0.89224	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CD109	74573287	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	7.915000	0.87484	2.561000	0.86390	0.650000	0.86243	.		0.343	CD109-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041230.3	NM_133493	Intron	12	24	1	0	9.05144e-12	1	9.75833e-12	12	24					T	74516566	G	T	74516566	5	4	435	1	0	0	0	0	0	0	1	0	2963	1014	35	5	3058	5	CD109	6	74516566	Splice_Site	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	185002	74516566	96598501	3229	24154											
CD109	135228	broad.mit.edu	37	chr6	74519715	74519715	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tttctcttgcaggtggcatgCaattctgggtgtcatcagag	7	14	12	8	0	4	1	2	0	2	1	5	1	4	1	0	3	2	3	0	3	1	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:74519715C>G	ENST00000287097.5	+	27	3476	c.3364C>G	c.(3364-3366)Caa>Gaa	p.Q1122E	CD109_ENST00000437994.2_Missense_Mutation_p.Q1122E|CD109_ENST00000422508.2_Missense_Mutation_p.Q1045E			Q6YHK3	CD109_HUMAN	CD109 molecule	1122					negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of wound healing (GO:0061045)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	serine-type endopeptidase inhibitor activity (GO:0004867)|transforming growth factor beta binding (GO:0050431)			NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						AGGTGGCATGCAATTCTGGGT	0.408																																						ENST00000437994.2																			0				NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						c.(3364-3366)Caa>Gaa		CD109 molecule							62	59	60					6																	74519715		2203	4298	6501	SO:0001583	missense	135228					anchored to membrane|extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity	g.chr6:74519715C>G	AF410459	CCDS4982.1, CCDS55038.1, CCDS55039.1	6q14.1	2008-02-05	2006-03-28		ENSG00000156535	ENSG00000156535		"CD molecules"	21685	protein-coding gene	gene with protein product		608859	"CD109 antigen (Gov platelet alloantigens)"			11861284, 11861285	Standard	XM_005248659		Approved	FLJ38569, DKFZp762L1111, CPAMD7	uc003php.3	Q6YHK3	OTTHUMG00000015040	ENST00000287097.5:c.3364C>G	6.37:g.74519715C>G	ENSP00000287097:p.Gln1122Glu					CD109_ENST00000287097.5_Missense_Mutation_p.Q1122E|CD109_ENST00000422508.2_Missense_Mutation_p.Q1045E	p.Q1122E	NM_001159587.1|NM_133493.3	NP_001153059.1|NP_598000.2	Q6YHK3	CD109_HUMAN			27	3795	+			1122					A5YKK4|B2R948|B3KW25|Q0P6K7|Q5SYA8|Q5XUM7|Q5XUM9|Q6MZI7|Q8N3A7|Q8N915|Q8TDJ2|Q8TDJ3	Missense_Mutation	SNP	ENST00000287097.5	37	c.3364C>G	CCDS4982.1	.	.	.	.	.	.	.	.	.	.	C	6.379	0.437951	0.12104	.	.	ENSG00000156535	ENST00000437994;ENST00000422508;ENST00000287097	T;T;T	0.36520	1.25;1.25;1.25	5.16	5.16	0.70880	Terpenoid cylases/protein prenyltransferase alpha-alpha toroid (1);A-macroglobulin complement component (1);	0.406312	0.27778	N	0.017900	T	0.09468	0.0233	L	0.27053	0.805	0.09310	N	1	B;B;B	0.30824	0.296;0.027;0.006	B;B;B	0.26416	0.069;0.008;0.007	T	0.11743	-1.0575	10	0.09590	T	0.72	.	12.5863	0.56419	0.2846:0.7154:0.0:0.0	.	1045;1122;1122	Q6YHK3-2;Q6YHK3-4;Q6YHK3	.;.;CD109_HUMAN	E	1122;1045;1122	ENSP00000388062:Q1122E;ENSP00000404475:Q1045E;ENSP00000287097:Q1122E	ENSP00000287097:Q1122E	Q	+	1	0	CD109	74576436	0.009000	0.17119	0.091000	0.20842	0.568000	0.35870	1.767000	0.38501	2.675000	0.91044	0.563000	0.77884	CAA		0.408	CD109-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041230.3	NM_133493		3	33	0	0	0	1	0	3	33					G	74519715	C	G	74519715	3	3	435	1	0	0	0	0	1	0	0	0	2963	711	25	5	3470	5	CD109	6	74519715	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	3149	74519715	96595352	3230	24155											
COL12A1	1303	broad.mit.edu	37	chr6	75822986	75822986	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatgtaacagtttgcacctcGcctcttgtatccttgttaaa	10	15	6	10	1	1	0	0	0	1	0	3	0	2	0	3	0	2	5	3	0	5	6			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:75822986G>A	ENST00000322507.8	-	51	8193	c.7884C>T	c.(7882-7884)ggC>ggT	p.G2628G	COL12A1_ENST00000483888.2_Silent_p.G2628G|COL12A1_ENST00000416123.2_Silent_p.G2628G|COL12A1_ENST00000345356.6_Silent_p.G1464G	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	2628	Laminin G-like.|Nonhelical region (NC3).				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	collagen type XII trimer (GO:0005595)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|vesicle (GO:0031982)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)			breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						TTTGCACCTCGCCTCTTGTAT	0.279																																						ENST00000322507.8																			0				breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						c.(7882-7884)ggC>ggT		collagen, type XII, alpha 1							85	78	80					6																	75822986		1821	4061	5882	SO:0001819	synonymous_variant	1303				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength	g.chr6:75822986G>A	U73779	CCDS43481.1, CCDS43482.1	6q12-q13	2013-02-11	2003-07-24		ENSG00000111799	ENSG00000111799		"Proteoglycans / Extracellular Matrix : Collagen proteoglycans", "Collagens", "Fibronectin type III domain containing"	2188	protein-coding gene	gene with protein product	"collagen type XII proteoglycan"	120320	"collagen, type XII, alpha 1-like"	COL12A1L		9143499	Standard	XM_006715334		Approved		uc003phs.3	Q99715	OTTHUMG00000015051	ENST00000322507.8:c.7884C>T	6.37:g.75822986G>A						COL12A1_ENST00000483888.2_Silent_p.G2628G|COL12A1_ENST00000416123.2_Silent_p.G2628G|COL12A1_ENST00000345356.6_Silent_p.G1464G	p.G2628G	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN			51	8193	-			2628			Nonhelical region (NC3).|TSP N-terminal.		O43853|Q15955|Q5VYK1|Q5VYK2|Q71UR3|Q99716	Silent	SNP	ENST00000322507.8	37	c.7884C>T	CCDS43482.1																																																																																				0.279	COL12A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041249.3	NM_004370		4	19	0	0	0	1	0	4	19					A	75822986	G	A	75822986	2	1	435	1	0	0	0	0	0	0	0	1	3669	1074	38	1		1	COL12A1	6	75822986	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	1303271	75822986	95292081	3231	24156											
COL12A1	1303	broad.mit.edu	37	chr6	75866131	75866131	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcttccctctcccatgagggCgatagacaacacggtagttg	9	9	11	12	2	1	2	0	1	1	1	3	3	2	2	2	2	1	3	2	2	3	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:75866131C>T	ENST00000322507.8	-	15	3401	c.3092G>A	c.(3091-3093)cGc>cAc	p.R1031H	COL12A1_ENST00000483888.2_Missense_Mutation_p.R1031H|COL12A1_ENST00000416123.2_Missense_Mutation_p.R1031H|COL12A1_ENST00000345356.6_Intron	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	1031	Fibronectin type-III 7. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	collagen type XII trimer (GO:0005595)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|vesicle (GO:0031982)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)			breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						CCCATGAGGGCGATAGACAAC	0.473																																						ENST00000322507.8																			0				breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						c.(3091-3093)cGc>cAc		collagen, type XII, alpha 1							251	236	241					6																	75866131		1960	4151	6111	SO:0001583	missense	1303				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength	g.chr6:75866131C>T	U73779	CCDS43481.1, CCDS43482.1	6q12-q13	2013-02-11	2003-07-24		ENSG00000111799	ENSG00000111799		"Proteoglycans / Extracellular Matrix : Collagen proteoglycans", "Collagens", "Fibronectin type III domain containing"	2188	protein-coding gene	gene with protein product	"collagen type XII proteoglycan"	120320	"collagen, type XII, alpha 1-like"	COL12A1L		9143499	Standard	XM_006715334		Approved		uc003phs.3	Q99715	OTTHUMG00000015051	ENST00000322507.8:c.3092G>A	6.37:g.75866131C>T	ENSP00000325146:p.Arg1031His					COL12A1_ENST00000483888.2_Missense_Mutation_p.R1031H|COL12A1_ENST00000416123.2_Missense_Mutation_p.R1031H|COL12A1_ENST00000345356.6_Intron	p.R1031H	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN			15	3401	-			1031			Fibronectin type-III 7.		O43853|Q15955|Q5VYK1|Q5VYK2|Q71UR3|Q99716	Missense_Mutation	SNP	ENST00000322507.8	37	c.3092G>A	CCDS43482.1	.	.	.	.	.	.	.	.	.	.	C	12.11	1.839447	0.32513	.	.	ENSG00000111799	ENST00000322507;ENST00000432784;ENST00000416123;ENST00000483888	T;T;T	0.59502	0.26;0.26;0.26	5.46	4.6	0.57074	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000003	T	0.57548	0.2061	L	0.56769	1.78	0.20873	N	0.999836	D	0.69078	0.997	P	0.61070	0.883	T	0.55891	-0.8069	10	0.52906	T	0.07	.	14.2768	0.66184	0.0:0.9282:0.0:0.0718	.	1031	Q99715	COCA1_HUMAN	H	1031	ENSP00000325146:R1031H;ENSP00000412864:R1031H;ENSP00000421216:R1031H	ENSP00000325146:R1031H	R	-	2	0	COL12A1	75922851	0.907000	0.30839	0.366000	0.25914	0.057000	0.15508	1.765000	0.38481	1.296000	0.44742	0.591000	0.81541	CGC		0.473	COL12A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041249.3	NM_004370		11	41	0	0	0	1	0	11	41					T	75866131	C	T	75866131	3	4	435	1	0	0	0	0	1	0	0	0	3669	768	27	1	6307	1	COL12A1	6	75866131	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	43145	75866131	95248936	3232	24157											
COL12A1	1303	broad.mit.edu	37	chr6	75892921	75892921	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cttccaattctgagcgaacgGcatccttcacaccaactgca	11	9	6	15	2	2	1	1	1	1	0	4	2	4	1	3	1	4	2	3	1	3	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:75892921G>A	ENST00000322507.8	-	10	2045	c.1736C>T	c.(1735-1737)gCc>gTc	p.A579V	COL12A1_ENST00000483888.2_Missense_Mutation_p.A579V|COL12A1_ENST00000416123.2_Missense_Mutation_p.A579V|COL12A1_ENST00000345356.6_Intron	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	579	VWFA 2. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	collagen type XII trimer (GO:0005595)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|vesicle (GO:0031982)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)			breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						TGAGCGAACGGCATCCTTCAC	0.428																																						ENST00000322507.8																			0				breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						c.(1735-1737)gCc>gTc		collagen, type XII, alpha 1							123	116	118					6																	75892921		1947	4144	6091	SO:0001583	missense	1303				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength	g.chr6:75892921G>A	U73779	CCDS43481.1, CCDS43482.1	6q12-q13	2013-02-11	2003-07-24		ENSG00000111799	ENSG00000111799		"Proteoglycans / Extracellular Matrix : Collagen proteoglycans", "Collagens", "Fibronectin type III domain containing"	2188	protein-coding gene	gene with protein product	"collagen type XII proteoglycan"	120320	"collagen, type XII, alpha 1-like"	COL12A1L		9143499	Standard	XM_006715334		Approved		uc003phs.3	Q99715	OTTHUMG00000015051	ENST00000322507.8:c.1736C>T	6.37:g.75892921G>A	ENSP00000325146:p.Ala579Val					COL12A1_ENST00000483888.2_Missense_Mutation_p.A579V|COL12A1_ENST00000416123.2_Missense_Mutation_p.A579V|COL12A1_ENST00000345356.6_Intron	p.A579V	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN			10	2045	-			579			VWFA 2.		O43853|Q15955|Q5VYK1|Q5VYK2|Q71UR3|Q99716	Missense_Mutation	SNP	ENST00000322507.8	37	c.1736C>T	CCDS43482.1	.	.	.	.	.	.	.	.	.	.	G	27.8	4.867851	0.91587	.	.	ENSG00000111799	ENST00000322507;ENST00000432784;ENST00000416123;ENST00000483888	T;T;T	0.78003	-1.14;-1.14;-1.14	5.56	5.56	0.83823	von Willebrand factor, type A (3);	0.000000	0.64402	D	0.000001	D	0.83834	0.5340	L	0.61036	1.89	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.78383	-0.2225	10	0.23891	T	0.37	.	19.8835	0.96906	0.0:0.0:1.0:0.0	.	579;579	D6RGG3;Q99715	.;COCA1_HUMAN	V	579	ENSP00000325146:A579V;ENSP00000412864:A579V;ENSP00000421216:A579V	ENSP00000325146:A579V	A	-	2	0	COL12A1	75949641	1.000000	0.71417	0.983000	0.44433	0.969000	0.65631	9.813000	0.99286	2.777000	0.95525	0.655000	0.94253	GCC		0.428	COL12A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041249.3	NM_004370		24	26	0	0	0	1	0	24	26					A	75892921	G	A	75892921	3	1	435	1	0	0	0	0	1	0	0	0	3669	1203	42	3	7683	3	COL12A1	6	75892921	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	26790	75892921	95222146	3233	24158											
COL12A1	1303	broad.mit.edu	37	chr6	75893364	75893364	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tttatatccacaccacgtgaGcattctgtaaagagaaaaaa	17	10	6	8	1	1	2	0	1	1	1	2	3	2	2	2	0	1	2	2	0	7	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:75893364G>A	ENST00000322507.8	-	10	1602	c.1293C>T	c.(1291-1293)tgC>tgT	p.C431C	COL12A1_ENST00000483888.2_Silent_p.C431C|COL12A1_ENST00000416123.2_Silent_p.C431C|COL12A1_ENST00000345356.6_Intron	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	431					cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	collagen type XII trimer (GO:0005595)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|vesicle (GO:0031982)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)			breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						CACCACGTGAGCATTCTGTAA	0.313																																						ENST00000322507.8																			0				breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						c.(1291-1293)tgC>tgT		collagen, type XII, alpha 1							67	65	65					6																	75893364		1820	4075	5895	SO:0001819	synonymous_variant	1303				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength	g.chr6:75893364G>A	U73779	CCDS43481.1, CCDS43482.1	6q12-q13	2013-02-11	2003-07-24		ENSG00000111799	ENSG00000111799		"Proteoglycans / Extracellular Matrix : Collagen proteoglycans", "Collagens", "Fibronectin type III domain containing"	2188	protein-coding gene	gene with protein product	"collagen type XII proteoglycan"	120320	"collagen, type XII, alpha 1-like"	COL12A1L		9143499	Standard	XM_006715334		Approved		uc003phs.3	Q99715	OTTHUMG00000015051	ENST00000322507.8:c.1293C>T	6.37:g.75893364G>A						COL12A1_ENST00000483888.2_Silent_p.C431C|COL12A1_ENST00000416123.2_Silent_p.C431C|COL12A1_ENST00000345356.6_Intron	p.C431C	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN			10	1602	-			431					O43853|Q15955|Q5VYK1|Q5VYK2|Q71UR3|Q99716	Silent	SNP	ENST00000322507.8	37	c.1293C>T	CCDS43482.1																																																																																				0.313	COL12A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041249.3	NM_004370		28	51	0	0	0	1	0	28	51					A	75893364	G	A	75893364	2	1	435	1	0	0	0	0	0	0	0	1	3669	963	34	3		3	COL12A1	6	75893364	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	443	75893364	95221703	3234	24159											
SENP6	26054	broad.mit.edu	37	chr6	76344440	76344440	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cagtgaaaatacgcaaaataCgtcattatgttctggaactg	15	11	8	7	2	2	1	1	1	1	0	2	2	2	2	0	1	3	2	0	1	8	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:76344440C>T	ENST00000447266.2	+	5	849	c.371C>T	c.(370-372)aCg>aTg	p.T124M	SENP6_ENST00000370014.3_Missense_Mutation_p.T124M|SENP6_ENST00000327284.8_Missense_Mutation_p.T124M|SENP6_ENST00000370010.2_Missense_Mutation_p.T124M	NM_015571.2	NP_056386.2	Q9GZR1	SENP6_HUMAN	SUMO1/sentrin specific peptidase 6	124					protein desumoylation (GO:0016926)|protein modification by small protein removal (GO:0070646)|protein sumoylation (GO:0016925)|regulation of kinetochore assembly (GO:0090234)|regulation of spindle assembly (GO:0090169)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	SUMO-specific protease activity (GO:0016929)			breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(12)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_hematologic(105;0.189)				ACGCAAAATACGTCATTATGT	0.313																																						ENST00000370014.3																			0				breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(12)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(370-372)aCg>aTg		SUMO1/sentrin specific peptidase 6																																				SO:0001583	missense	26054				proteolysis	cytoplasm|nucleus	cysteine-type peptidase activity	g.chr6:76344440C>T		CCDS43483.1, CCDS47454.1	6q13-q14.3	2008-02-05	2005-08-17		ENSG00000112701	ENSG00000112701			20944	protein-coding gene	gene with protein product		605003	"SUMO1/sentrin specific protease 6"				Standard	NM_015571		Approved	SUSP1, KIAA0797	uc003pid.4	Q9GZR1	OTTHUMG00000015060	ENST00000447266.2:c.371C>T	6.37:g.76344440C>T	ENSP00000402527:p.Thr124Met					SENP6_ENST00000370010.2_Missense_Mutation_p.T124M|SENP6_ENST00000447266.2_Missense_Mutation_p.T124M|SENP6_ENST00000327284.8_Missense_Mutation_p.T124M	p.T124M	NM_001100409.1	NP_001093879.1	Q9GZR1	SENP6_HUMAN			5	990	+		all_hematologic(105;0.189)	124					A6NNY9|O94891|Q5VUL3|Q5VUL4|Q8TBY4|Q9UJV5	Missense_Mutation	SNP	ENST00000447266.2	37	c.371C>T	CCDS47454.1	.	.	.	.	.	.	.	.	.	.	C	6.982	0.551294	0.13374	.	.	ENSG00000112701	ENST00000370010;ENST00000370014;ENST00000538088;ENST00000327284;ENST00000447266;ENST00000483859;ENST00000424947	T;T;T;T;T;T	0.45276	0.9;0.9;0.9;0.9;0.9;0.9	5.5	3.47	0.39725	.	0.978769	0.08408	N	0.950438	T	0.11110	0.0271	N	0.22421	0.69	0.26513	N	0.974568	B;B;B	0.20459	0.045;0.027;0.045	B;B;B	0.12837	0.008;0.004;0.008	T	0.21314	-1.0249	10	0.35671	T	0.21	-0.1592	4.316	0.10993	0.0:0.5446:0.0:0.4554	.	124;124;124	Q9GZR1-2;Q9GZR1;F8W6D9	.;SENP6_HUMAN;.	M	124;124;124;124;124;15;14	ENSP00000359027:T124M;ENSP00000359031:T124M;ENSP00000321820:T124M;ENSP00000402527:T124M;ENSP00000426480:T15M;ENSP00000391426:T14M	ENSP00000321820:T124M	T	+	2	0	SENP6	76401160	0.041000	0.20044	0.735000	0.30896	0.110000	0.19582	1.391000	0.34475	1.343000	0.45638	0.585000	0.79938	ACG		0.313	SENP6-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041272.2	NM_015571		12	33	0	0	0	1	0	12	33					T	76344440	C	T	76344440	3	4	435	1	0	0	0	0	1	0	0	0	14050	536	19	1	389	1	SENP6	6	76344440	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	451076	76344440	94770627	3235	24160											
SENP6	26054	broad.mit.edu	37	chr6	76388358	76388358	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gaatttcagttttttgatgaAgaagaagaaactggagaaaa	18	11	10	2	0	1	6	1	2	0	4	1	8	1	6	0	1	1	1	0	1	7	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:76388358A>T	ENST00000447266.2	+	15	2386	c.1908A>T	c.(1906-1908)gaA>gaT	p.E636D	SENP6_ENST00000370014.3_Missense_Mutation_p.E636D|SENP6_ENST00000541192.1_Missense_Mutation_p.E232D|SENP6_ENST00000327284.8_Missense_Mutation_p.E629D|SENP6_ENST00000370010.2_Missense_Mutation_p.E629D	NM_015571.2	NP_056386.2	Q9GZR1	SENP6_HUMAN	SUMO1/sentrin specific peptidase 6	636					protein desumoylation (GO:0016926)|protein modification by small protein removal (GO:0070646)|protein sumoylation (GO:0016925)|regulation of kinetochore assembly (GO:0090234)|regulation of spindle assembly (GO:0090169)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	SUMO-specific protease activity (GO:0016929)			breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(12)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_hematologic(105;0.189)				TTTTTGATGAAGAAGAAGAAA	0.313																																						ENST00000370014.3																			0				breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(12)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(1906-1908)gaA>gaT		SUMO1/sentrin specific peptidase 6							123	117	119					6																	76388358		1797	4070	5867	SO:0001583	missense	26054				proteolysis	cytoplasm|nucleus	cysteine-type peptidase activity	g.chr6:76388358A>T		CCDS43483.1, CCDS47454.1	6q13-q14.3	2008-02-05	2005-08-17		ENSG00000112701	ENSG00000112701			20944	protein-coding gene	gene with protein product		605003	"SUMO1/sentrin specific protease 6"				Standard	NM_015571		Approved	SUSP1, KIAA0797	uc003pid.4	Q9GZR1	OTTHUMG00000015060	ENST00000447266.2:c.1908A>T	6.37:g.76388358A>T	ENSP00000402527:p.Glu636Asp					SENP6_ENST00000370010.2_Missense_Mutation_p.E629D|SENP6_ENST00000447266.2_Missense_Mutation_p.E636D|SENP6_ENST00000327284.8_Missense_Mutation_p.E629D|SENP6_ENST00000541192.1_Missense_Mutation_p.E232D	p.E636D	NM_001100409.1	NP_001093879.1	Q9GZR1	SENP6_HUMAN			15	2527	+		all_hematologic(105;0.189)	636					A6NNY9|O94891|Q5VUL3|Q5VUL4|Q8TBY4|Q9UJV5	Missense_Mutation	SNP	ENST00000447266.2	37	c.1908A>T	CCDS47454.1	.	.	.	.	.	.	.	.	.	.	A	6.105	0.387690	0.11581	.	.	ENSG00000112701	ENST00000370010;ENST00000370014;ENST00000327284;ENST00000447266;ENST00000424947;ENST00000541192	T;T;T;T;T;T	0.27256	2.94;2.94;1.79;2.92;1.79;1.68	5.71	-1.47	0.08772	.	0.133316	0.64402	N	0.000003	T	0.01092	0.0036	N	0.00801	-1.175	0.23893	N	0.996542	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.0;0.001	T	0.39210	-0.9625	10	0.02654	T	1	-10.2695	3.1146	0.06370	0.2173:0.0619:0.2124:0.5083	.	629;636;629	Q9GZR1-2;Q9GZR1;F8W6D9	.;SENP6_HUMAN;.	D	629;636;629;636;526;232	ENSP00000359027:E629D;ENSP00000359031:E636D;ENSP00000321820:E629D;ENSP00000402527:E636D;ENSP00000391426:E526D;ENSP00000441715:E232D	ENSP00000321820:E629D	E	+	3	2	SENP6	76445078	0.998000	0.40836	0.996000	0.52242	0.985000	0.73830	0.251000	0.18257	0.075000	0.16796	-0.339000	0.08088	GAA		0.313	SENP6-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041272.2	NM_015571		51	51	0	0	0	1	0	51	51					T	76388358	A	T	76388358	3	4	435	1	0	0	0	0	1	0	0	0	14050	69	3	5	1966	5	SENP6	6	76388358	Missense_Mutation	SNP	A	TCGA-XK-AAIW-01A-11D-A41K-08	43918	76388358	94726709	3236	24161											
SENP6	26054	broad.mit.edu	37	chr6	76412444	76412444	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcctcattaccatgaaaatgCtgtcatacagaaatgttcaa	15	12	5	9	0	3	2	3	1	0	1	4	2	4	2	2	0	3	2	2	0	6	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:76412444C>A	ENST00000447266.2	+	19	2850	c.2372C>A	c.(2371-2373)gCt>gAt	p.A791D	SENP6_ENST00000370014.3_Missense_Mutation_p.A791D|SENP6_ENST00000541192.1_Intron|SENP6_ENST00000370010.2_Missense_Mutation_p.A784D	NM_015571.2	NP_056386.2	Q9GZR1	SENP6_HUMAN	SUMO1/sentrin specific peptidase 6	791	Protease.				protein desumoylation (GO:0016926)|protein modification by small protein removal (GO:0070646)|protein sumoylation (GO:0016925)|regulation of kinetochore assembly (GO:0090234)|regulation of spindle assembly (GO:0090169)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	SUMO-specific protease activity (GO:0016929)			breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(12)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_hematologic(105;0.189)				CATGAAAATGCTGTCATACAG	0.383																																						ENST00000370014.3																			0				breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(12)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(2371-2373)gCt>gAt		SUMO1/sentrin specific peptidase 6							59	55	56					6																	76412444		1832	4093	5925	SO:0001583	missense	26054				proteolysis	cytoplasm|nucleus	cysteine-type peptidase activity	g.chr6:76412444C>A		CCDS43483.1, CCDS47454.1	6q13-q14.3	2008-02-05	2005-08-17		ENSG00000112701	ENSG00000112701			20944	protein-coding gene	gene with protein product		605003	"SUMO1/sentrin specific protease 6"				Standard	NM_015571		Approved	SUSP1, KIAA0797	uc003pid.4	Q9GZR1	OTTHUMG00000015060	ENST00000447266.2:c.2372C>A	6.37:g.76412444C>A	ENSP00000402527:p.Ala791Asp					SENP6_ENST00000370010.2_Missense_Mutation_p.A784D|SENP6_ENST00000447266.2_Missense_Mutation_p.A791D|SENP6_ENST00000541192.1_Intron	p.A791D	NM_001100409.1	NP_001093879.1	Q9GZR1	SENP6_HUMAN			19	2991	+		all_hematologic(105;0.189)	791			Protease.		A6NNY9|O94891|Q5VUL3|Q5VUL4|Q8TBY4|Q9UJV5	Missense_Mutation	SNP	ENST00000447266.2	37	c.2372C>A	CCDS47454.1	.	.	.	.	.	.	.	.	.	.	C	13.53	2.265533	0.40095	.	.	ENSG00000112701	ENST00000370010;ENST00000370014;ENST00000447266	T;T;T	0.12774	2.65;2.65;2.65	5.74	2.47	0.30058	.	0.723156	0.13837	N	0.359285	T	0.03564	0.0102	L	0.33485	1.01	0.20926	N	0.999829	B;B	0.31383	0.321;0.023	B;B	0.32583	0.148;0.02	T	0.41179	-0.9523	10	0.29301	T	0.29	-0.6313	8.4866	0.33076	0.118:0.6969:0.1147:0.0703	.	784;791	Q9GZR1-2;Q9GZR1	.;SENP6_HUMAN	D	784;791;791	ENSP00000359027:A784D;ENSP00000359031:A791D;ENSP00000402527:A791D	ENSP00000359027:A784D	A	+	2	0	SENP6	76469164	0.931000	0.31567	0.994000	0.49952	0.919000	0.55068	2.350000	0.44063	0.747000	0.32809	0.579000	0.79373	GCT		0.383	SENP6-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041272.2	NM_015571		24	47	1	0	1.9806e-07	1	2.07755e-07	24	47					A	76412444	C	A	76412444	3	1	435	1	0	0	0	0	1	0	0	0	14050	797	28	5	2446	5	SENP6	6	76412444	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	24086	76412444	94702623	3237	24162											
MYO6	4646	broad.mit.edu	37	chr6	76538323	76538323	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agttcgatatagtaaagacaGaatttatgtaagtattttac	16	15	7	3	1	0	2	0	0	0	2	1	3	0	2	0	0	1	4	0	0	9	10			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:76538323G>T	ENST00000369977.3	+	4	393	c.254G>T	c.(253-255)aGa>aTa	p.R85I	MYO6_ENST00000369985.4_Missense_Mutation_p.R85I|MYO6_ENST00000369981.3_Missense_Mutation_p.R85I|MYO6_ENST00000369975.1_Missense_Mutation_p.R85I	NM_004999.3	NP_004990.3	Q9UM54	MYO6_HUMAN	myosin VI	85	Myosin motor.				actin filament-based movement (GO:0030048)|auditory receptor cell differentiation (GO:0042491)|cellular response to electrical stimulus (GO:0071257)|dendrite development (GO:0016358)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|endocytosis (GO:0006897)|glutamate secretion (GO:0014047)|inner ear morphogenesis (GO:0042472)|intracellular protein transport (GO:0006886)|locomotory behavior (GO:0007626)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein targeting (GO:0006605)|regulation of secretion (GO:0051046)|regulation of synaptic plasticity (GO:0048167)|response to drug (GO:0042493)|sensory perception of sound (GO:0007605)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	apical part of cell (GO:0045177)|axon (GO:0030424)|cell cortex (GO:0005938)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|endocytic vesicle (GO:0030139)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|microvillus (GO:0005902)|neuronal cell body (GO:0043025)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|ruffle membrane (GO:0032587)|unconventional myosin complex (GO:0016461)|vesicle membrane (GO:0012506)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|minus-end directed microfilament motor activity (GO:0060001)|motor activity (GO:0003774)			breast(2)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(16)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	58		all_hematologic(105;0.189)		BRCA - Breast invasive adenocarcinoma(397;0.223)		AGTAAAGACAGAATTTATGTA	0.289																																						ENST00000369981.3																			0				breast(2)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(16)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						c.(253-255)aGa>aTa		myosin VI							87	96	93					6																	76538323		2203	4299	6502	SO:0001583	missense	4646				actin filament-based movement|DNA damage response, signal transduction by p53 class mediator|endocytosis|intracellular protein transport|positive regulation of transcription from RNA polymerase II promoter|regulation of secretion|sensory perception of sound|synaptic transmission	cell cortex|clathrin coated vesicle membrane|coated pit|cytosol|DNA-directed RNA polymerase II, holoenzyme|filamentous actin|Golgi apparatus|nuclear membrane|perinuclear region of cytoplasm|ruffle membrane|unconventional myosin complex	actin filament binding|ADP binding|ATP binding|calmodulin binding|minus-end directed microfilament motor activity|protein binding	g.chr6:76538323G>T	U90236, AB002387	CCDS34487.1, CCDS75481.1	6q14.1	2014-09-17	2004-05-19		ENSG00000196586	ENSG00000196586		"Myosins / Myosin superfamily : Class VI"	7605	protein-coding gene	gene with protein product		600970	"deafness, autosomal recessive 37"	DFNA22, DFNB37		9259267, 11468689	Standard	XM_005248719		Approved	KIAA0389	uc003pih.1	Q9UM54	OTTHUMG00000015061	ENST00000369977.3:c.254G>T	6.37:g.76538323G>T	ENSP00000358994:p.Arg85Ile					MYO6_ENST00000369975.1_Missense_Mutation_p.R85I|MYO6_ENST00000369985.4_Missense_Mutation_p.R85I|MYO6_ENST00000369977.3_Missense_Mutation_p.R85I	p.R85I			Q9UM54	MYO6_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.223)	4	533	+		all_hematologic(105;0.189)	85			Myosin head-like.		A6H8V4|E1P540|Q5TEM5|Q5TEM6|Q5TEM7|Q9BZZ7|Q9UEG2	Missense_Mutation	SNP	ENST00000369977.3	37	c.254G>T	CCDS34487.1	.	.	.	.	.	.	.	.	.	.	G	16.32	3.089622	0.55968	.	.	ENSG00000196586	ENST00000428345;ENST00000369981;ENST00000369985;ENST00000369977;ENST00000369975	T;T;T;T	0.70986	-0.53;-0.53;-0.53;-0.53	5.51	5.51	0.81932	.	0.050367	0.85682	D	0.000000	T	0.32010	0.0815	N	0.02916	-0.46	0.80722	D	1	B;B	0.33120	0.141;0.398	B;B	0.32149	0.016;0.141	T	0.44772	-0.9306	10	0.41790	T	0.15	.	12.7194	0.57134	0.0751:0.0:0.9249:0.0	.	85;85	Q9UM54-2;Q9UM54-1	.;.	I	85	ENSP00000358998:R85I;ENSP00000359002:R85I;ENSP00000358994:R85I;ENSP00000358992:R85I	ENSP00000358992:R85I	R	+	2	0	MYO6	76595043	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.848000	0.75409	2.594000	0.87642	0.563000	0.77884	AGA		0.289	MYO6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041279.2	NM_004999		33	57	1	0	4.4194e-11	1	4.74656e-11	33	57					T	76538323	G	T	76538323	3	4	435	1	0	0	0	0	1	0	0	0	10081	942	33	5	264	5	MYO6	6	76538323	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	125879	76538323	94576744	3238	24163											
MYO6	4646	broad.mit.edu	37	chr6	76568665	76568665	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caattttgcatcaactattgCaatgaaaaacttcaacaatt	17	13	3	8	0	2	1	2	1	0	0	2	1	2	1	0	0	5	2	0	0	8	6			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:76568665C>T	ENST00000369977.3	+	14	1567	c.1428C>T	c.(1426-1428)tgC>tgT	p.C476C	MYO6_ENST00000369981.3_Silent_p.C476C|MYO6_ENST00000369975.1_Silent_p.C476C|MYO6_ENST00000369985.4_Silent_p.C476C	NM_004999.3	NP_004990.3	Q9UM54	MYO6_HUMAN	myosin VI	476	Myosin motor.				actin filament-based movement (GO:0030048)|auditory receptor cell differentiation (GO:0042491)|cellular response to electrical stimulus (GO:0071257)|dendrite development (GO:0016358)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|endocytosis (GO:0006897)|glutamate secretion (GO:0014047)|inner ear morphogenesis (GO:0042472)|intracellular protein transport (GO:0006886)|locomotory behavior (GO:0007626)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein targeting (GO:0006605)|regulation of secretion (GO:0051046)|regulation of synaptic plasticity (GO:0048167)|response to drug (GO:0042493)|sensory perception of sound (GO:0007605)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	apical part of cell (GO:0045177)|axon (GO:0030424)|cell cortex (GO:0005938)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|endocytic vesicle (GO:0030139)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|microvillus (GO:0005902)|neuronal cell body (GO:0043025)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|ruffle membrane (GO:0032587)|unconventional myosin complex (GO:0016461)|vesicle membrane (GO:0012506)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|minus-end directed microfilament motor activity (GO:0060001)|motor activity (GO:0003774)			breast(2)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(16)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	58		all_hematologic(105;0.189)		BRCA - Breast invasive adenocarcinoma(397;0.223)		TCAACTATTGCAATGAAAAAC	0.264																																						ENST00000369981.3																			0				breast(2)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(16)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						c.(1426-1428)tgC>tgT		myosin VI							46	46	46					6																	76568665		2201	4289	6490	SO:0001819	synonymous_variant	4646				actin filament-based movement|DNA damage response, signal transduction by p53 class mediator|endocytosis|intracellular protein transport|positive regulation of transcription from RNA polymerase II promoter|regulation of secretion|sensory perception of sound|synaptic transmission	cell cortex|clathrin coated vesicle membrane|coated pit|cytosol|DNA-directed RNA polymerase II, holoenzyme|filamentous actin|Golgi apparatus|nuclear membrane|perinuclear region of cytoplasm|ruffle membrane|unconventional myosin complex	actin filament binding|ADP binding|ATP binding|calmodulin binding|minus-end directed microfilament motor activity|protein binding	g.chr6:76568665C>T	U90236, AB002387	CCDS34487.1, CCDS75481.1	6q14.1	2014-09-17	2004-05-19		ENSG00000196586	ENSG00000196586		"Myosins / Myosin superfamily : Class VI"	7605	protein-coding gene	gene with protein product		600970	"deafness, autosomal recessive 37"	DFNA22, DFNB37		9259267, 11468689	Standard	XM_005248719		Approved	KIAA0389	uc003pih.1	Q9UM54	OTTHUMG00000015061	ENST00000369977.3:c.1428C>T	6.37:g.76568665C>T						MYO6_ENST00000369975.1_Silent_p.C476C|MYO6_ENST00000369985.4_Silent_p.C476C|MYO6_ENST00000369977.3_Silent_p.C476C	p.C476C			Q9UM54	MYO6_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.223)	14	1707	+		all_hematologic(105;0.189)	476			Myosin head-like.		A6H8V4|E1P540|Q5TEM5|Q5TEM6|Q5TEM7|Q9BZZ7|Q9UEG2	Silent	SNP	ENST00000369977.3	37	c.1428C>T	CCDS34487.1																																																																																				0.264	MYO6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041279.2	NM_004999		5	33	0	0	0	1	0	5	33					T	76568665	C	T	76568665	2	4	435	1	0	0	0	0	0	0	0	1	10081	718	25	3		3	MYO6	6	76568665	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	30342	76568665	94546402	3239	24164											
MYO6	4646	broad.mit.edu	37	chr6	76600989	76600989	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaaacaagaagaagaagagaGaaagaaaagggaagatgatg	25	2	13	1	0	0	8	0	1	0	7	0	10	0	9	0	1	1	0	0	1	10	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:76600989G>A	ENST00000369977.3	+	27	3051	c.2912G>A	c.(2911-2913)aGa>aAa	p.R971K	MYO6_ENST00000369981.3_Missense_Mutation_p.R971K|MYO6_ENST00000369975.1_Missense_Mutation_p.R971K|MYO6_ENST00000369985.4_Missense_Mutation_p.R971K	NM_004999.3	NP_004990.3	Q9UM54	MYO6_HUMAN	myosin VI	971	Glu-rich.				actin filament-based movement (GO:0030048)|auditory receptor cell differentiation (GO:0042491)|cellular response to electrical stimulus (GO:0071257)|dendrite development (GO:0016358)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|endocytosis (GO:0006897)|glutamate secretion (GO:0014047)|inner ear morphogenesis (GO:0042472)|intracellular protein transport (GO:0006886)|locomotory behavior (GO:0007626)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein targeting (GO:0006605)|regulation of secretion (GO:0051046)|regulation of synaptic plasticity (GO:0048167)|response to drug (GO:0042493)|sensory perception of sound (GO:0007605)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	apical part of cell (GO:0045177)|axon (GO:0030424)|cell cortex (GO:0005938)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|endocytic vesicle (GO:0030139)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|microvillus (GO:0005902)|neuronal cell body (GO:0043025)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|ruffle membrane (GO:0032587)|unconventional myosin complex (GO:0016461)|vesicle membrane (GO:0012506)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|minus-end directed microfilament motor activity (GO:0060001)|motor activity (GO:0003774)			breast(2)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(16)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	58		all_hematologic(105;0.189)		BRCA - Breast invasive adenocarcinoma(397;0.223)		GAAGAAGAGAGAAAGAAAAGG	0.343																																						ENST00000369981.3																			0				breast(2)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(16)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						c.(2911-2913)aGa>aAa		myosin VI							76	82	80					6																	76600989		2203	4300	6503	SO:0001583	missense	4646				actin filament-based movement|DNA damage response, signal transduction by p53 class mediator|endocytosis|intracellular protein transport|positive regulation of transcription from RNA polymerase II promoter|regulation of secretion|sensory perception of sound|synaptic transmission	cell cortex|clathrin coated vesicle membrane|coated pit|cytosol|DNA-directed RNA polymerase II, holoenzyme|filamentous actin|Golgi apparatus|nuclear membrane|perinuclear region of cytoplasm|ruffle membrane|unconventional myosin complex	actin filament binding|ADP binding|ATP binding|calmodulin binding|minus-end directed microfilament motor activity|protein binding	g.chr6:76600989G>A	U90236, AB002387	CCDS34487.1, CCDS75481.1	6q14.1	2014-09-17	2004-05-19		ENSG00000196586	ENSG00000196586		"Myosins / Myosin superfamily : Class VI"	7605	protein-coding gene	gene with protein product		600970	"deafness, autosomal recessive 37"	DFNA22, DFNB37		9259267, 11468689	Standard	XM_005248719		Approved	KIAA0389	uc003pih.1	Q9UM54	OTTHUMG00000015061	ENST00000369977.3:c.2912G>A	6.37:g.76600989G>A	ENSP00000358994:p.Arg971Lys					MYO6_ENST00000369975.1_Missense_Mutation_p.R971K|MYO6_ENST00000369985.4_Missense_Mutation_p.R971K|MYO6_ENST00000369977.3_Missense_Mutation_p.R971K	p.R971K			Q9UM54	MYO6_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.223)	27	3191	+		all_hematologic(105;0.189)	971			Glu-rich.		A6H8V4|E1P540|Q5TEM5|Q5TEM6|Q5TEM7|Q9BZZ7|Q9UEG2	Missense_Mutation	SNP	ENST00000369977.3	37	c.2912G>A	CCDS34487.1	.	.	.	.	.	.	.	.	.	.	G	17.98	3.519744	0.64634	.	.	ENSG00000196586	ENST00000428345;ENST00000369981;ENST00000369985;ENST00000369977;ENST00000369975;ENST00000430435	T;T;T;T;T	0.20881	2.32;2.87;2.87;2.04;3.18	5.18	5.18	0.71444	.	0.000000	0.85682	D	0.000000	T	0.20495	0.0493	L	0.55834	1.745	0.50039	D	0.999847	P;P	0.47910	0.902;0.902	P;P	0.60173	0.87;0.87	T	0.03840	-1.0999	10	0.02654	T	1	.	14.9217	0.70843	0.0:0.0:1.0:0.0	.	971;971	Q9UM54-2;Q9UM54-1	.;.	K	971;971;971;971;971;34	ENSP00000358998:R971K;ENSP00000359002:R971K;ENSP00000358994:R971K;ENSP00000358992:R971K;ENSP00000399406:R34K	ENSP00000358992:R971K	R	+	2	0	MYO6	76657709	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	5.669000	0.68081	2.796000	0.96246	0.655000	0.94253	AGA		0.343	MYO6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041279.2	NM_004999		3	26	0	0	0	1	0	3	26					A	76600989	G	A	76600989	3	1	435	1	0	0	0	0	1	0	0	0	10081	942	33	3	3014	3	MYO6	6	76600989	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	32324	76600989	94514078	3240	24165											
IRAK1BP1	134728	broad.mit.edu	37	chr6	79607593	79607593	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aaaatgcaaaatatttgtaaCtttcttgttgaaaagctaga	17	14	6	4	0	1	2	0	1	1	1	1	2	1	2	0	0	3	4	0	0	9	7			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:79607593C>A	ENST00000369940.2	+	3	534	c.429C>A	c.(427-429)aaC>aaA	p.N143K	IRAK1BP1_ENST00000607739.1_Missense_Mutation_p.N56K	NM_001010844.2	NP_001010844.1	Q5VVH5	IKBP1_HUMAN	interleukin-1 receptor-associated kinase 1 binding protein 1	143					I-kappaB kinase/NF-kappaB signaling (GO:0007249)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(3)	12		all_cancers(76;0.0398)|Acute lymphoblastic leukemia(125;1.24e-05)|all_hematologic(105;0.00223)		BRCA - Breast invasive adenocarcinoma(397;0.21)		ATATTTGTAACTTTCTTGTTG	0.353																																						ENST00000369940.2																			0				endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(3)	12						c.(427-429)aaC>aaA		interleukin-1 receptor-associated kinase 1 binding protein 1							110	107	108					6																	79607593		2203	4300	6503	SO:0001583	missense	134728				I-kappaB kinase/NF-kappaB cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus		g.chr6:79607593C>A	AI478629	CCDS34488.1	6q14-q15	2006-04-12				ENSG00000146243			17368	protein-coding gene	gene with protein product		615375				11096118	Standard	XM_005248654		Approved	AIP70, SIMPL	uc003pim.4	Q5VVH5		ENST00000369940.2:c.429C>A	6.37:g.79607593C>A	ENSP00000358956:p.Asn143Lys					IRAK1BP1_ENST00000607739.1_Missense_Mutation_p.N56K	p.N143K	NM_001010844.2	NP_001010844.1	Q5VVH5	IKBP1_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.21)	3	534	+		all_cancers(76;0.0398)|Acute lymphoblastic leukemia(125;1.24e-05)|all_hematologic(105;0.00223)	143						Missense_Mutation	SNP	ENST00000369940.2	37	c.429C>A	CCDS34488.1	.	.	.	.	.	.	.	.	.	.	C	17.53	3.413148	0.62511	.	.	ENSG00000146243	ENST00000369940	.	.	.	5.7	3.91	0.45181	.	0.099633	0.64402	D	0.000002	T	0.66096	0.2755	M	0.77103	2.36	0.36887	D	0.889682	D	0.89917	1.0	D	0.91635	0.999	T	0.70472	-0.4862	8	.	.	.	-11.743	10.3899	0.44162	0.0:0.7859:0.0:0.2141	.	143	Q5VVH5	IKBP1_HUMAN	K	143	.	.	N	+	3	2	IRAK1BP1	79664312	0.986000	0.35501	1.000000	0.80357	0.998000	0.95712	0.079000	0.14782	1.404000	0.46819	0.655000	0.94253	AAC		0.353	IRAK1BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041296.2	XM_059729		19	43	1	0	1.00905e-13	1	1.09755e-13	19	43					A	79607593	C	A	79607593	3	1	435	1	0	0	0	0	1	0	0	0	7822	564	20	5	439	5	IRAK1BP1	6	79607593	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	3006604	79607593	91507474	3241	24166											
LCA5	167691	broad.mit.edu	37	chr6	80223162	80223162	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgtaatctcattgttatgacGaaatataagttgtgagattt	13	17	8	3	1	1	2	1	2	1	1	2	4	1	2	0	0	0	3	0	0	5	7	rs568193819		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:80223162G>A	ENST00000392959.1	-	4	1098	c.487C>T	c.(487-489)Cgt>Tgt	p.R163C	LCA5_ENST00000467898.3_Missense_Mutation_p.R163C|LCA5_ENST00000369846.4_Missense_Mutation_p.R163C	NM_181714.3	NP_859065.2	Q86VQ0	LCA5_HUMAN	Leber congenital amaurosis 5	163					intraciliary transport (GO:0042073)|photoreceptor cell maintenance (GO:0045494)|protein transport (GO:0015031)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	protein complex binding (GO:0032403)			haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(15)|prostate(2)|skin(1)	32		all_cancers(76;3.32e-05)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.0176)		BRCA - Breast invasive adenocarcinoma(397;0.0657)		TTGTTATGACGAAATATAAGT	0.353													G|||	1	0.000199681	0	0	5008	,	,		20599	0		0	False		,,,				2504	0.001					ENST00000392959.1																			0				haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(15)|prostate(2)|skin(1)	32						c.(487-489)Cgt>Tgt		Leber congenital amaurosis 5							130	124	126					6																	80223162		2203	4300	6503	SO:0001583	missense	167691				protein transport	cilium axoneme|microtubule basal body	protein binding	g.chr6:80223162G>A		CCDS4990.1	6q14	2014-01-28			ENSG00000135338	ENSG00000135338			31923	protein-coding gene	gene with protein product	"lebercilin"	611408	"chromosome 6 open reading frame 152"	C6orf152		10631161, 17546029	Standard	NM_181714		Approved		uc003pix.3	Q86VQ0	OTTHUMG00000015080	ENST00000392959.1:c.487C>T	6.37:g.80223162G>A	ENSP00000376686:p.Arg163Cys					LCA5_ENST00000369846.4_Missense_Mutation_p.R163C|LCA5_ENST00000467898.2_Missense_Mutation_p.R163C	p.R163C	NM_181714.3	NP_859065.2	Q86VQ0	LCA5_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.0657)	4	1098	-		all_cancers(76;3.32e-05)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.0176)	163					E1P542|Q9BWX7	Missense_Mutation	SNP	ENST00000392959.1	37	c.487C>T	CCDS4990.1	.	.	.	.	.	.	.	.	.	.	G	18.29	3.590687	0.66219	.	.	ENSG00000135338	ENST00000369846;ENST00000392959	T;T	0.78595	-1.19;-1.19	6.07	4.13	0.48395	.	0.123452	0.56097	N	0.000031	T	0.82089	0.4961	M	0.68593	2.085	0.53005	D	0.999966	D;D	0.89917	1.0;1.0	D;D	0.78314	0.949;0.991	D	0.84749	0.0755	10	0.87932	D	0	-4.0473	11.9233	0.52803	0.0701:0.0:0.7992:0.1306	.	163;163	B4DRL2;Q86VQ0	.;LCA5_HUMAN	C	163	ENSP00000358861:R163C;ENSP00000376686:R163C	ENSP00000358861:R163C	R	-	1	0	LCA5	80279881	1.000000	0.71417	0.989000	0.46669	0.897000	0.52465	4.844000	0.62846	1.571000	0.49722	0.655000	0.94253	CGT		0.353	LCA5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259269.1	NM_181714		5	91	0	0	0	1	0	5	91					A	80223162	G	A	80223162	3	1	435	1	0	0	0	0	1	0	0	0	8656	1058	37	2	1630	2	LCA5	6	80223162	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	615569	80223162	90891905	3242	24167											
IBTK	25998	broad.mit.edu	37	chr6	82922423	82922423	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	aatcttcctttccttacttaCcattttttctgacttagctt	7	21	2	11	0	2	1	0	1	2	0	4	1	4	1	3	0	3	1	3	0	4	9			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:82922423C>T	ENST00000306270.7	-	13	2841		c.e13+1		IBTK_ENST00000503631.1_Splice_Site|RNU6-130P_ENST00000411112.1_RNA|IBTK_ENST00000510291.1_Splice_Site	NM_015525.2	NP_056340.2	Q9P2D0	IBTK_HUMAN	inhibitor of Bruton agammaglobulinemia tyrosine kinase						negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein tyrosine kinase activity (GO:0061099)|release of sequestered calcium ion into cytosol (GO:0051209)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)|protein tyrosine kinase inhibitor activity (GO:0030292)			central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(10)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	54		all_cancers(76;3.38e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.0037)		BRCA - Breast invasive adenocarcinoma(397;0.0901)		TCCTTACTTACCATTTTTTCT	0.333																																						ENST00000306270.7																			0				central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(10)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	54						c.e13+1		inhibitor of Bruton agammaglobulinemia tyrosine kinase							178	158	165					6																	82922423		2203	4299	6502	SO:0001630	splice_region_variant	25998				negative regulation of protein phosphorylation|release of sequestered calcium ion into cytosol	cytoplasm|membrane|nucleus	protein kinase binding|protein tyrosine kinase inhibitor activity	g.chr6:82922423C>T	AF235049	CCDS34490.1, CCDS75486.1	6q14.3	2013-01-10	2003-10-06	2003-10-08	ENSG00000005700	ENSG00000005700		"BTB/POZ domain containing", "Ankyrin repeat domain containing"	17853	protein-coding gene	gene with protein product		606457	"Bruton agammaglobulinemia tyrosine kinase inhibitor"	BTKI		11577348	Standard	XM_006715453		Approved	DKFZP564B116, BTBD26	uc003pjl.1	Q9P2D0	OTTHUMG00000015102	ENST00000306270.7:c.2291+1G>A	6.37:g.82922423C>T						IBTK_ENST00000503631.1_Splice_Site|IBTK_ENST00000510291.1_Splice_Site		NM_015525.2	NP_056340.2	Q9P2D0	IBTK_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.0901)	13	2841	-		all_cancers(76;3.38e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.0037)						Q2QKU2|Q2QKU3|Q2QKU4|Q5TFD7|Q5TFD9|Q8IUQ9|Q8IUY7|Q8TAI4|Q9HBI8|Q9Y3T8	Splice_Site	SNP	ENST00000306270.7	37		CCDS34490.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.120653	0.77323	.	.	ENSG00000005700	ENST00000306270;ENST00000503631;ENST00000510291	.	.	.	5.66	5.66	0.87406	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.6923	0.96007	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	IBTK	82979142	1.000000	0.71417	1.000000	0.80357	0.782000	0.44232	6.385000	0.73182	2.830000	0.97506	0.585000	0.79938	.		0.333	IBTK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041337.2	NM_015525	Intron	4	25	0	0	0	1	0	4	25					T	82922423	C	T	82922423	5	4	435	1	0	0	0	0	0	0	1	0	7476	521	18	3	1837	3	IBTK	6	82922423	Splice_Site	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	2699261	82922423	88192644	3243	24168											
DOPEY1	23033	broad.mit.edu	37	chr6	83829480	83829480	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	catggaggttttgataacaaCggtgctatcataggacccag	12	10	11	8	1	1	1	1	1	0	0	1	3	1	3	1	4	3	2	1	4	4	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:83829480C>T	ENST00000349129.2	+	9	1154	c.894C>T	c.(892-894)aaC>aaT	p.N298N	DOPEY1_ENST00000369739.3_Intron|DOPEY1_ENST00000536812.1_3'UTR|DOPEY1_ENST00000237163.5_Intron	NM_015018.3	NP_055833.2	Q5JWR5	DOP1_HUMAN	dopey family member 1	298					protein transport (GO:0015031)					breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	67		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)		BRCA - Breast invasive adenocarcinoma(397;0.053)		TTGATAACAACGGTGCTATCA	0.348																																						ENST00000349129.2																			0				breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	67						c.(892-894)aaC>aaT		dopey family member 1							142	137	139					6																	83829480		2203	4300	6503	SO:0001819	synonymous_variant	23033				protein transport			g.chr6:83829480C>T	AK027030	CCDS4996.1, CCDS64467.1	6q15	2013-03-05	2006-02-02	2006-02-02	ENSG00000083097	ENSG00000083097			21194	protein-coding gene	gene with protein product			"KIAA1117"	KIAA1117		16301316, 16303751, 10931277	Standard	NM_015018		Approved	dJ202D23.2	uc011dyy.2	Q5JWR5	OTTHUMG00000016365	ENST00000349129.2:c.894C>T	6.37:g.83829480C>T						DOPEY1_ENST00000536812.1_3'UTR|DOPEY1_ENST00000237163.5_Intron|DOPEY1_ENST00000369739.3_Intron	p.N298N	NM_015018.3	NP_055833.2	Q5JWR5	DOP1_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.053)	9	1154	+		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)	298					Q86XV1|Q9H5J5|Q9NSL4|Q9UPN5|Q9Y414	Silent	SNP	ENST00000349129.2	37	c.894C>T	CCDS4996.1																																																																																				0.348	DOPEY1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043785.2	NM_015018		23	27	0	0	0	1	0	23	27					T	83829480	C	T	83829480	2	4	435	1	0	0	0	0	0	0	0	1	4707	535	19	1		1	DOPEY1	6	83829480	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	907057	83829480	87285587	3244	24169											
DOPEY1	23033	broad.mit.edu	37	chr6	83830445	83830445	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gaatggatttggagaagagaAcactctaatgcaggatctaa	16	9	11	5	0	2	2	0	0	2	2	2	7	2	4	0	3	2	1	0	3	5	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:83830445A>G	ENST00000349129.2	+	10	1294	c.1034A>G	c.(1033-1035)aAc>aGc	p.N345S	DOPEY1_ENST00000369739.3_Missense_Mutation_p.N336S|DOPEY1_ENST00000536812.1_3'UTR|DOPEY1_ENST00000237163.5_Missense_Mutation_p.N336S	NM_015018.3	NP_055833.2	Q5JWR5	DOP1_HUMAN	dopey family member 1	345					protein transport (GO:0015031)					breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	67		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)		BRCA - Breast invasive adenocarcinoma(397;0.053)		GGAGAAGAGAACACTCTAATG	0.363																																						ENST00000349129.2																			0				breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	67						c.(1033-1035)aAc>aGc		dopey family member 1							136	129	131					6																	83830445		2203	4300	6503	SO:0001583	missense	23033				protein transport			g.chr6:83830445A>G	AK027030	CCDS4996.1, CCDS64467.1	6q15	2013-03-05	2006-02-02	2006-02-02	ENSG00000083097	ENSG00000083097			21194	protein-coding gene	gene with protein product			"KIAA1117"	KIAA1117		16301316, 16303751, 10931277	Standard	NM_015018		Approved	dJ202D23.2	uc011dyy.2	Q5JWR5	OTTHUMG00000016365	ENST00000349129.2:c.1034A>G	6.37:g.83830445A>G	ENSP00000195654:p.Asn345Ser					DOPEY1_ENST00000536812.1_3'UTR|DOPEY1_ENST00000237163.5_Missense_Mutation_p.N336S|DOPEY1_ENST00000369739.3_Missense_Mutation_p.N336S	p.N345S	NM_015018.3	NP_055833.2	Q5JWR5	DOP1_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.053)	10	1294	+		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)	345					Q86XV1|Q9H5J5|Q9NSL4|Q9UPN5|Q9Y414	Missense_Mutation	SNP	ENST00000349129.2	37	c.1034A>G	CCDS4996.1	.	.	.	.	.	.	.	.	.	.	A	6.110	0.388633	0.11581	.	.	ENSG00000083097	ENST00000349129;ENST00000237163;ENST00000369739	T;T;T	0.20738	2.05;2.05;2.07	5.74	3.88	0.44766	.	0.095252	0.64402	N	0.000001	T	0.01558	0.0050	N	0.00677	-1.265	0.80722	D	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.43426	-0.9392	10	0.06236	T	0.91	-0.0981	11.5182	0.50536	0.0682:0.1255:0.8063:0.0	.	242;336;345	E1P545;B2RWN9;Q5JWR5	.;.;DOP1_HUMAN	S	345;336;336	ENSP00000195654:N345S;ENSP00000237163:N336S;ENSP00000358754:N336S	ENSP00000237163:N336S	N	+	2	0	DOPEY1	83887164	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	6.510000	0.73729	0.742000	0.32697	-0.321000	0.08615	AAC		0.363	DOPEY1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043785.2	NM_015018		11	28	0	0	0	1	0	11	28					G	83830445	A	G	83830445	3	3	435	1	0	0	0	0	1	0	0	0	4707	43	2	4	1064	4	DOPEY1	6	83830445	Missense_Mutation	SNP	A	TCGA-XK-AAIW-01A-11D-A41K-08	965	83830445	87284622	3245	24170											
DOPEY1	23033	broad.mit.edu	37	chr6	83838913	83838913	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccaaaagactgcaatgcagtGctgcttggagtatgtccaac	12	9	10	10	0	0	1	0	0	0	1	1	2	1	2	2	1	5	5	2	1	5	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:83838913G>A	ENST00000349129.2	+	16	2287	c.2027G>A	c.(2026-2028)tGc>tAc	p.C676Y	DOPEY1_ENST00000369739.3_Missense_Mutation_p.C667Y|DOPEY1_ENST00000237163.5_Missense_Mutation_p.C657Y	NM_015018.3	NP_055833.2	Q5JWR5	DOP1_HUMAN	dopey family member 1	676					protein transport (GO:0015031)					breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	67		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)		BRCA - Breast invasive adenocarcinoma(397;0.053)		GCAATGCAGTGCTGCTTGGAG	0.463																																						ENST00000349129.2																			0				breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	67						c.(2026-2028)tGc>tAc		dopey family member 1							116	116	116					6																	83838913		2203	4300	6503	SO:0001583	missense	23033				protein transport			g.chr6:83838913G>A	AK027030	CCDS4996.1, CCDS64467.1	6q15	2013-03-05	2006-02-02	2006-02-02	ENSG00000083097	ENSG00000083097			21194	protein-coding gene	gene with protein product			"KIAA1117"	KIAA1117		16301316, 16303751, 10931277	Standard	NM_015018		Approved	dJ202D23.2	uc011dyy.2	Q5JWR5	OTTHUMG00000016365	ENST00000349129.2:c.2027G>A	6.37:g.83838913G>A	ENSP00000195654:p.Cys676Tyr					DOPEY1_ENST00000237163.5_Missense_Mutation_p.C657Y|DOPEY1_ENST00000369739.3_Missense_Mutation_p.C667Y	p.C676Y	NM_015018.3	NP_055833.2	Q5JWR5	DOP1_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.053)	16	2287	+		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)	676					Q86XV1|Q9H5J5|Q9NSL4|Q9UPN5|Q9Y414	Missense_Mutation	SNP	ENST00000349129.2	37	c.2027G>A	CCDS4996.1	.	.	.	.	.	.	.	.	.	.	G	12.49	1.954427	0.34471	.	.	ENSG00000083097	ENST00000349129;ENST00000237163;ENST00000369739	T;T	0.24350	1.86;1.87	5.67	4.79	0.61399	.	0.053749	0.85682	D	0.000000	T	0.07954	0.0199	L	0.27053	0.805	0.80722	D	1	B;B;B	0.09022	0.002;0.001;0.001	B;B;B	0.09377	0.004;0.002;0.002	T	0.11470	-1.0586	10	0.20519	T	0.43	.	11.3513	0.49589	0.1384:0.0:0.8616:0.0	.	567;667;676	E1P545;B2RWN9;Q5JWR5	.;.;DOP1_HUMAN	Y	676;657;657	ENSP00000195654:C676Y;ENSP00000237163:C657Y	ENSP00000237163:C657Y	C	+	2	0	DOPEY1	83895632	1.000000	0.71417	1.000000	0.80357	0.885000	0.51271	5.133000	0.64764	2.670000	0.90874	0.655000	0.94253	TGC		0.463	DOPEY1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043785.2	NM_015018		23	26	0	0	0	1	0	23	26					A	83838913	G	A	83838913	3	1	435	1	0	0	0	0	1	0	0	0	4707	1319	46	3	2081	3	DOPEY1	6	83838913	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	8468	83838913	87276154	3246	24171											
DOPEY1	23033	broad.mit.edu	37	chr6	83841913	83841913	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcatgtagctttaacattgTgggaccagttgggagatggg	10	11	15	5	0	0	1	0	0	0	1	0	3	0	2	1	3	3	4	1	3	2	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:83841913T>C	ENST00000349129.2	+	18	2895	c.2635T>C	c.(2635-2637)Tgg>Cgg	p.W879R	DOPEY1_ENST00000369739.3_Missense_Mutation_p.W870R|DOPEY1_ENST00000237163.5_Missense_Mutation_p.W860R	NM_015018.3	NP_055833.2	Q5JWR5	DOP1_HUMAN	dopey family member 1	879					protein transport (GO:0015031)					breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	67		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)		BRCA - Breast invasive adenocarcinoma(397;0.053)		TTTAACATTGTGGGACCAGTT	0.353																																						ENST00000349129.2																			0				breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	67						c.(2635-2637)Tgg>Cgg		dopey family member 1							131	129	129					6																	83841913		2203	4300	6503	SO:0001583	missense	23033				protein transport			g.chr6:83841913T>C	AK027030	CCDS4996.1, CCDS64467.1	6q15	2013-03-05	2006-02-02	2006-02-02	ENSG00000083097	ENSG00000083097			21194	protein-coding gene	gene with protein product			"KIAA1117"	KIAA1117		16301316, 16303751, 10931277	Standard	NM_015018		Approved	dJ202D23.2	uc011dyy.2	Q5JWR5	OTTHUMG00000016365	ENST00000349129.2:c.2635T>C	6.37:g.83841913T>C	ENSP00000195654:p.Trp879Arg					DOPEY1_ENST00000237163.5_Missense_Mutation_p.W860R|DOPEY1_ENST00000369739.3_Missense_Mutation_p.W870R	p.W879R	NM_015018.3	NP_055833.2	Q5JWR5	DOP1_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.053)	18	2895	+		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)	879					Q86XV1|Q9H5J5|Q9NSL4|Q9UPN5|Q9Y414	Missense_Mutation	SNP	ENST00000349129.2	37	c.2635T>C	CCDS4996.1	.	.	.	.	.	.	.	.	.	.	T	22.6	4.309708	0.81247	.	.	ENSG00000083097	ENST00000349129;ENST00000237163;ENST00000369739	T;T	0.58210	0.35;0.43	5.81	5.81	0.92471	.	0.000000	0.85682	D	0.000000	T	0.68495	0.3007	M	0.78049	2.395	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.85130	0.997;0.997;0.997	T	0.73898	-0.3837	10	0.87932	D	0	.	16.1637	0.81739	0.0:0.0:0.0:1.0	.	770;870;879	E1P545;B2RWN9;Q5JWR5	.;.;DOP1_HUMAN	R	879;860;860	ENSP00000195654:W879R;ENSP00000237163:W860R	ENSP00000237163:W860R	W	+	1	0	DOPEY1	83898632	1.000000	0.71417	0.998000	0.56505	0.980000	0.70556	7.698000	0.84413	2.216000	0.71823	0.533000	0.62120	TGG		0.353	DOPEY1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043785.2	NM_015018		35	48	0	0	0	1	0	35	48					C	83841913	T	C	83841913	3	2	435	1	0	0	0	0	1	0	0	0	4707	1696	59	4	2697	4	DOPEY1	6	83841913	Missense_Mutation	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	3000	83841913	87273154	3247	24172											
DOPEY1	23033	broad.mit.edu	37	chr6	83848608	83848608	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgttgtatctgacttagaacAcatcagtccccatcaaccca	12	11	5	13	0	3	2	2	1	1	1	4	2	4	2	3	0	2	2	3	0	4	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:83848608A>G	ENST00000349129.2	+	21	5107	c.4847A>G	c.(4846-4848)cAc>cGc	p.H1616R	DOPEY1_ENST00000484282.1_3'UTR|DOPEY1_ENST00000369739.3_Missense_Mutation_p.H1607R|DOPEY1_ENST00000237163.5_Missense_Mutation_p.H1597R	NM_015018.3	NP_055833.2	Q5JWR5	DOP1_HUMAN	dopey family member 1	1616					protein transport (GO:0015031)			p.H1616R(1)		breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	67		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)		BRCA - Breast invasive adenocarcinoma(397;0.053)		GACTTAGAACACATCAGTCCC	0.418																																						ENST00000349129.2																			1	Substitution - Missense(1)	p.H1616R(1)	endometrium(1)	breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	67						c.(4846-4848)cAc>cGc		dopey family member 1							99	80	86					6																	83848608		2203	4299	6502	SO:0001583	missense	23033				protein transport			g.chr6:83848608A>G	AK027030	CCDS4996.1, CCDS64467.1	6q15	2013-03-05	2006-02-02	2006-02-02	ENSG00000083097	ENSG00000083097			21194	protein-coding gene	gene with protein product			"KIAA1117"	KIAA1117		16301316, 16303751, 10931277	Standard	NM_015018		Approved	dJ202D23.2	uc011dyy.2	Q5JWR5	OTTHUMG00000016365	ENST00000349129.2:c.4847A>G	6.37:g.83848608A>G	ENSP00000195654:p.His1616Arg					DOPEY1_ENST00000237163.5_Missense_Mutation_p.H1597R|DOPEY1_ENST00000484282.1_3'UTR|DOPEY1_ENST00000369739.3_Missense_Mutation_p.H1607R	p.H1616R	NM_015018.3	NP_055833.2	Q5JWR5	DOP1_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.053)	21	5107	+		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)	1616					Q86XV1|Q9H5J5|Q9NSL4|Q9UPN5|Q9Y414	Missense_Mutation	SNP	ENST00000349129.2	37	c.4847A>G	CCDS4996.1	.	.	.	.	.	.	.	.	.	.	A	10.04	1.240246	0.22711	.	.	ENSG00000083097	ENST00000349129;ENST00000237163;ENST00000369739	T;T	0.40756	1.02;1.02	5.9	5.9	0.94986	.	0.045412	0.85682	D	0.000000	T	0.16128	0.0388	N	0.04508	-0.205	0.80722	D	1	P;P;P	0.50443	0.935;0.799;0.799	P;B;B	0.47864	0.559;0.276;0.276	T	0.10870	-1.0611	10	0.15952	T	0.53	.	16.3317	0.83023	1.0:0.0:0.0:0.0	.	1507;1607;1616	E1P545;B2RWN9;Q5JWR5	.;.;DOP1_HUMAN	R	1616;1597;1597	ENSP00000195654:H1616R;ENSP00000237163:H1597R	ENSP00000237163:H1597R	H	+	2	0	DOPEY1	83905327	1.000000	0.71417	0.985000	0.45067	0.960000	0.62799	8.730000	0.91510	2.264000	0.75181	0.533000	0.62120	CAC		0.418	DOPEY1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043785.2	NM_015018		28	78	0	0	0	1	0	28	78					G	83848608	A	G	83848608	3	3	435	1	0	0	0	0	1	0	0	0	4707	159	6	4	4921	4	DOPEY1	6	83848608	Missense_Mutation	SNP	A	TCGA-XK-AAIW-01A-11D-A41K-08	6695	83848608	87266459	3248	24173											
ME1	4199	broad.mit.edu	37	chr6	83949258	83949258	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtattacacaaggcaaatacCtctccagctccttggaatag	13	10	7	11	0	1	0	0	0	1	0	3	1	2	1	3	2	3	3	3	2	7	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:83949258C>A	ENST00000369705.3	-	8	1028	c.912G>T	c.(910-912)gaG>gaT	p.E304D	ME1_ENST00000541327.1_Splice_Site_p.E138D|ME1_ENST00000543031.1_Splice_Site_p.E229D	NM_002395.4	NP_002386.1	P48163	MAOX_HUMAN	malic enzyme 1, NADP(+)-dependent, cytosolic	304					carbohydrate metabolic process (GO:0005975)|cellular lipid metabolic process (GO:0044255)|malate metabolic process (GO:0006108)|NADP biosynthetic process (GO:0006741)|protein tetramerization (GO:0051262)|response to carbohydrate (GO:0009743)|response to hormone (GO:0009725)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	ADP binding (GO:0043531)|electron carrier activity (GO:0009055)|malate dehydrogenase (decarboxylating) (NAD+) activity (GO:0004471)|malate dehydrogenase (decarboxylating) (NADP+) activity (GO:0004473)|malic enzyme activity (GO:0004470)|manganese ion binding (GO:0030145)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|oxaloacetate decarboxylase activity (GO:0008948)			NS(2)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36		all_cancers(76;1.28e-06)|Acute lymphoblastic leukemia(125;5.03e-07)|all_hematologic(105;0.000238)|all_epithelial(107;0.00218)		BRCA - Breast invasive adenocarcinoma(397;0.0641)		AGGCAAATACCTCTCCAGCTC	0.363																																						ENST00000369705.3																			0				NS(2)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						c.e8+1		malic enzyme 1, NADP(+)-dependent, cytosolic	NADH(DB00157)						151	143	146					6																	83949258		2203	4300	6503	SO:0001630	splice_region_variant	4199				carbohydrate metabolic process|cellular lipid metabolic process|malate metabolic process|NADP biosynthetic process|response to carbohydrate stimulus|response to hormone stimulus	cytosol	ADP binding|electron carrier activity|malate dehydrogenase (oxaloacetate-decarboxylating) (NADP+) activity|manganese ion binding|NAD binding|NADP binding	g.chr6:83949258C>A	X77244	CCDS34492.1	6q12	2012-10-02			ENSG00000065833	ENSG00000065833	1.1.1.40		6983	protein-coding gene	gene with protein product		154250				8187880	Standard	NM_002395		Approved		uc003pjy.3	P48163	OTTHUMG00000015111	ENST00000369705.3:c.912+1G>T	6.37:g.83949258C>A						ME1_ENST00000543031.1_Splice_Site_p.E229_splice|ME1_ENST00000541327.1_Splice_Site_p.E138_splice	p.E304_splice	NM_002395.4	NP_002386.1	P48163	MAOX_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.0641)	8	1028	-		all_cancers(76;1.28e-06)|Acute lymphoblastic leukemia(125;5.03e-07)|all_hematologic(105;0.000238)|all_epithelial(107;0.00218)	304					B4DZ70|Q16797|Q16855|Q53F72|Q5VWA2|Q9BWX8|Q9H1W3|Q9UIY4	Splice_Site	SNP	ENST00000369705.3	37	c.912_splice	CCDS34492.1	.	.	.	.	.	.	.	.	.	.	C	32	5.144971	0.94603	.	.	ENSG00000065833	ENST00000369705;ENST00000541327;ENST00000543031	T;T;T	0.31247	1.5;1.5;1.5	5.66	5.66	0.87406	Malic enzyme, NAD-binding (2);NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	T	0.62986	0.2473	H	0.96662	3.86	0.80722	D	1	P	0.52692	0.955	P	0.59424	0.857	T	0.76066	-0.3095	9	.	.	.	-18.6096	18.5012	0.90882	0.0:1.0:0.0:0.0	.	304	P48163	MAOX_HUMAN	D	304;138;229	ENSP00000358719:E304D;ENSP00000439912:E138D;ENSP00000446114:E229D	.	E	-	3	2	ME1	84005977	1.000000	0.71417	1.000000	0.80357	0.861000	0.49209	5.464000	0.66719	2.658000	0.90341	0.650000	0.86243	GAG		0.363	ME1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041350.1		Missense_Mutation	20	30	1	0	6.33239e-15	1	6.92311e-15	20	30					A	83949258	C	A	83949258	5	1	435	1	0	0	0	0	0	0	1	0	9417	695	24	5	834	5	ME1	6	83949258	Splice_Site	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	100650	83949258	87165809	3249	24174											
CYB5R4	51167	broad.mit.edu	37	chr6	84634191	84634191	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aatttatcttcttttcagtgCgggttgttgagagtgtggga	7	17	13	4	1	3	1	1	1	2	1	3	3	3	2	0	2	1	2	0	2	2	7			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:84634191C>T	ENST00000369681.5	+	10	834	c.694C>T	c.(694-696)Cgg>Tgg	p.R232W		NM_016230.3	NP_057314.2	Q7L1T6	NB5R4_HUMAN	cytochrome b5 reductase 4	232	CS. {ECO:0000255|PROSITE- ProRule:PRU00547}.				cell development (GO:0048468)|detection of oxygen (GO:0003032)|generation of precursor metabolites and energy (GO:0006091)|glucose homeostasis (GO:0042593)|insulin secretion (GO:0030073)|NADP metabolic process (GO:0006739)|oxidation-reduction process (GO:0055114)|response to antibiotic (GO:0046677)|superoxide metabolic process (GO:0006801)	endoplasmic reticulum (GO:0005783)|perinuclear region of cytoplasm (GO:0048471)	cytochrome-b5 reductase activity, acting on NAD(P)H (GO:0004128)|flavin adenine dinucleotide binding (GO:0050660)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|NAD(P)H oxidase activity (GO:0016174)|NADPH-hemoprotein reductase activity (GO:0003958)|oxidoreductase activity, acting on NAD(P)H, heme protein as acceptor (GO:0016653)			breast(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	23		all_cancers(76;7e-07)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00128)		BRCA - Breast invasive adenocarcinoma(397;0.0871)		CTTTTCAGTGCGGGTTGTTGA	0.333																																					Esophageal Squamous(86;1289 1332 25971 40349 52675)	ENST00000369681.4																			0				breast(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	23						c.(694-696)Cgg>Tgg		cytochrome b5 reductase 4							71	74	73					6																	84634191		2203	4300	6503	SO:0001583	missense	51167				cell development|detection of oxygen|generation of precursor metabolites and energy|glucose homeostasis|insulin secretion|response to antibiotic|superoxide metabolic process	endoplasmic reticulum|perinuclear region of cytoplasm	cytochrome-b5 reductase activity|heme binding|NAD(P)H oxidase activity	g.chr6:84634191C>T	AF169803	CCDS5000.2	6q14.2	2012-09-19		2005-07-13	ENSG00000065615	ENSG00000065615	1.6.2.2		20147	protein-coding gene	gene with protein product		608343	"NADPH cytochrome B5 oxidoreductase"	NCB5OR		10611283	Standard	NM_016230		Approved	b5+b5R, dJ676J13.1	uc003pkf.3	Q7L1T6	OTTHUMG00000015118	ENST00000369681.5:c.694C>T	6.37:g.84634191C>T	ENSP00000358695:p.Arg232Trp						p.R232W	NM_016230.3	NP_057314.2	Q7L1T6	NB5R4_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.0871)	10	834	+		all_cancers(76;7e-07)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00128)	232			CS.		B1AEM2|Q5TGI9|Q9NUE4|Q9UHI9	Missense_Mutation	SNP	ENST00000369681.5	37	c.694C>T	CCDS5000.2	.	.	.	.	.	.	.	.	.	.	C	12.04	1.819336	0.32145	.	.	ENSG00000065615	ENST00000369681	T	0.09630	2.96	6.05	5.17	0.71159	CS-like domain (1);CS domain (1);HSP20-like chaperone (1);	0.541790	0.21816	N	0.068693	T	0.14184	0.0343	M	0.61703	1.905	0.20196	N	0.999924	D	0.65815	0.995	P	0.58820	0.846	T	0.04723	-1.0931	10	0.59425	D	0.04	.	12.8061	0.57614	0.3986:0.6014:0.0:0.0	.	232	Q7L1T6	NB5R4_HUMAN	W	232	ENSP00000358695:R232W	ENSP00000358695:R232W	R	+	1	2	CYB5R4	84690910	0.057000	0.20700	0.242000	0.24170	0.091000	0.18340	0.524000	0.22940	1.551000	0.49450	-0.188000	0.12872	CGG		0.333	CYB5R4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041362.4	NM_016230		22	34	0	0	0	1	0	22	34					T	84634191	C	T	84634191	3	4	435	1	0	0	0	0	1	0	0	0	4129	759	27	1	732	1	CYB5R4	6	84634191	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	684933	84634191	86480876	3250	24175											
ZNF292	23036	broad.mit.edu	37	chr6	87971050	87971050	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcgtaaagaagaagaaactgCtgttgccattcaaaccattg	15	9	9	8	1	1	3	1	0	0	3	1	3	1	3	2	0	4	3	2	0	6	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:87971050C>T	ENST00000369577.3	+	8	7746	c.7703C>T	c.(7702-7704)gCt>gTt	p.A2568V	ZNF292_ENST00000339907.4_Missense_Mutation_p.A2563V	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN	zinc finger protein 292	2568						nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		GAAGAAACTGCTGTTGCCATT	0.388																																						ENST00000369577.3																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89						c.(7702-7704)gCt>gTt		zinc finger protein 292							42	42	42					6																	87971050		1893	4111	6004	SO:0001583	missense	23036				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:87971050C>T	AB011102	CCDS47457.1	6q15	2008-10-23			ENSG00000188994	ENSG00000188994		"Zinc fingers, C2H2-type"	18410	protein-coding gene	gene with protein product						9628581	Standard	NM_015021		Approved	KIAA0530, ZFP292, bA393I2.3, Zn-15, Zn-16	uc003plm.4	O60281	OTTHUMG00000015164	ENST00000369577.3:c.7703C>T	6.37:g.87971050C>T	ENSP00000358590:p.Ala2568Val					ZNF292_ENST00000339907.4_Missense_Mutation_p.A2563V	p.A2568V	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0199)	8	7746	+		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)	2568					Q5W0B2|Q7Z3L7|Q9H8G3|Q9H8J4	Missense_Mutation	SNP	ENST00000369577.3	37	c.7703C>T	CCDS47457.1	.	.	.	.	.	.	.	.	.	.	C	11.64	1.697533	0.30142	.	.	ENSG00000188994	ENST00000369577;ENST00000339907	T;T	0.08102	3.13;3.14	5.85	5.85	0.93711	.	0.255356	0.46145	D	0.000308	T	0.03608	0.0103	L	0.48877	1.53	0.40349	D	0.979116	P	0.48503	0.911	B	0.36766	0.232	T	0.50915	-0.8771	10	0.25106	T	0.35	.	13.3656	0.60682	0.0:0.9281:0.0:0.0719	.	2568	O60281	ZN292_HUMAN	V	2568;2563	ENSP00000358590:A2568V;ENSP00000342847:A2563V	ENSP00000342847:A2563V	A	+	2	0	ZNF292	88027769	1.000000	0.71417	1.000000	0.80357	0.681000	0.39784	3.787000	0.55439	2.755000	0.94549	0.655000	0.94253	GCT		0.388	ZNF292-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000376192.2	NM_015021		9	12	0	0	0	1	0	9	12					T	87971050	C	T	87971050	3	4	435	1	0	0	0	0	1	0	0	0	17823	797	28	3	7733	3	ZNF292	6	87971050	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	3336859	87971050	83144017	3251	24176											
RARS2	57038	broad.mit.edu	37	chr6	88240652	88240652	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gctgcttctttattaacttgTacataaacctaaaagtacaa	15	14	4	8	0	1	0	0	0	1	0	1	0	1	0	1	0	5	4	1	0	9	9			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:88240652T>C	ENST00000369536.5	-	9	666	c.621A>G	c.(619-621)gtA>gtG	p.V207V		NM_020320.3	NP_064716.2	Q5T160	SYRM_HUMAN	arginyl-tRNA synthetase 2, mitochondrial	207					arginyl-tRNA aminoacylation (GO:0006420)|gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrial matrix (GO:0005759)	arginine-tRNA ligase activity (GO:0004814)|ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	22		all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575)		BRCA - Breast invasive adenocarcinoma(108;0.0456)		TATTAACTTGTACATAAACCT	0.363																																						ENST00000369536.5																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	22						c.(619-621)gtA>gtG		arginyl-tRNA synthetase 2, mitochondrial							119	116	117					6																	88240652		2203	4300	6503	SO:0001819	synonymous_variant	57038				arginyl-tRNA aminoacylation	mitochondrial matrix	arginine-tRNA ligase activity|ATP binding|protein binding	g.chr6:88240652T>C	AK093934	CCDS5011.1	6q16.1	2011-07-01	2007-09-27	2007-02-23	ENSG00000146282	ENSG00000146282	6.1.1.19	"Aminoacyl tRNA synthetases / Class I"	21406	protein-coding gene	gene with protein product	"arginine tRNA ligase 2, mitochondrial (putative)"	611524	"arginyl-tRNA synthetase-like"	RARSL		17847012	Standard	NM_020320		Approved	MGC14993, MGC23778, PRO1992, dJ382I10.6, DALRD2	uc003pme.3	Q5T160	OTTHUMG00000015178	ENST00000369536.5:c.621A>G	6.37:g.88240652T>C							p.V207V	NM_020320.3	NP_064716.2	Q5T160	SYRM_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0456)	9	666	-		all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575)	207					B2RDT7|Q96FU5|Q9H8K8	Silent	SNP	ENST00000369536.5	37	c.621A>G	CCDS5011.1																																																																																				0.363	RARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041448.1	NM_020320		4	44	0	0	0	1	0	4	44					C	88240652	T	C	88240652	2	2	435	1	0	0	0	0	0	0	0	1	13059	1625	57	4		4	RARS2	6	88240652	Silent	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	269602	88240652	82874415	3252	24177											
ORC3L	23595	broad.mit.edu	37	chr6	88374517	88374517	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aatatcgccccagacatctgCatagcatacaaactgcacct	14	8	5	14	1	1	1	0	0	1	1	2	1	1	1	3	0	5	3	3	0	5	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:88374517C>T	ENST00000392844.3	+	18	1938	c.1890C>T	c.(1888-1890)tgC>tgT	p.C630C	ORC3_ENST00000546266.1_Silent_p.C487C|ORC3_ENST00000257789.4_Silent_p.C631C	NM_012381.3|NM_181837.2	NP_036513.2|NP_862820.1	Q9UBD5	ORC3_HUMAN	origin recognition complex, subunit 3	630					DNA replication (GO:0006260)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|neural precursor cell proliferation (GO:0061351)	nuclear origin of replication recognition complex (GO:0005664)|nucleoplasm (GO:0005654)|origin recognition complex (GO:0000808)	DNA replication origin binding (GO:0003688)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	28						CAGACATCTGCATAGCATACA	0.398																																						ENST00000392844.3																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	28						c.(1888-1890)tgC>tgT		origin recognition complex, subunit 3							128	113	118					6																	88374517		2203	4300	6503	SO:0001819	synonymous_variant	23595				cell cycle checkpoint|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	nuclear origin of replication recognition complex|nucleoplasm	DNA replication origin binding|protein binding	g.chr6:88374517C>T	AF093535	CCDS5012.1, CCDS43486.1, CCDS56440.1	6q	2010-10-12	2010-10-12	2010-10-12	ENSG00000135336	ENSG00000135336			8489	protein-coding gene	gene with protein product		604972	"origin recognition complex, subunit 3 (yeast homolog)-like", "origin recognition complex, subunit 3-like (yeast)", "origin recognition complex, subunit 3 honolog (yeast)"	ORC3L		9829972, 10402192	Standard	NM_181837		Approved	IMAGE50150, LATHEO	uc003pmg.3	Q9UBD5	OTTHUMG00000015179	ENST00000392844.3:c.1890C>T	6.37:g.88374517C>T						ORC3_ENST00000257789.4_Silent_p.C631C|ORC3_ENST00000546266.1_Silent_p.C487C	p.C630C	NM_012381.3|NM_181837.2	NP_036513.2|NP_862820.1	Q9UBD5	ORC3_HUMAN			18	1938	+			630					A2A2T5|B4E025|Q13565|Q53GY6|Q5T159|Q6IUY7|Q86TN5|Q9UG44|Q9UNT6	Silent	SNP	ENST00000392844.3	37	c.1890C>T	CCDS43486.1																																																																																				0.398	ORC3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000041452.2			24	49	0	0	0	1	0	24	49					T	88374517	C	T	88374517	2	4	435	1	0	0	0	0	0	0	0	1	11263	718	25	3		3	ORC3L	6	88374517	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	133865	88374517	82740550	3253	24178											
AKIRIN2	55122	broad.mit.edu	37	chr6	88385621	88385621	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cgtcgcattatttgatcatgCgtaaacttcacaaacgcatc	12	12	6	11	4	2	1	2	1	0	0	4	1	2	1	0	0	3	3	0	0	4	4	rs369857489		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:88385621C>T	ENST00000257787.5	-	4	1082	c.558G>A	c.(556-558)acG>acA	p.T186T		NM_018064.3	NP_060534.1	Q53H80	AKIR2_HUMAN	akirin 2	186					embryo development (GO:0009790)|innate immune response (GO:0045087)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endopeptidase activity (GO:0010950)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to lipopolysaccharide (GO:0032496)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	enzyme binding (GO:0019899)			large_intestine(4)	4						TTTGATCATGCGTAAACTTCA	0.323																																						ENST00000257787.5																			0				large_intestine(4)	4						c.(556-558)acG>acA		akirin 2		C		0,4406		0,0,2203	86	82	83		558	-1.4	1	6		83	1,8597	1.2+/-3.3	0,1,4298	no	coding-synonymous	AKIRIN2	NM_018064.3		0,1,6501	TT,TC,CC		0.0116,0.0,0.0077		186/204	88385621	1,13003	2203	4299	6502	SO:0001819	synonymous_variant	55122				innate immune response|transcription, DNA-dependent	transcriptional repressor complex		g.chr6:88385621C>T	BC000764	CCDS5013.1	6q15	2009-04-17	2008-06-23	2008-06-23	ENSG00000135334	ENSG00000135334			21407	protein-coding gene	gene with protein product		615165	"chromosome 6 open reading frame 166"	C6orf166			Standard	NM_018064		Approved	FLJ10342, dJ486L4.2	uc003pmk.3	Q53H80	OTTHUMG00000015180	ENST00000257787.5:c.558G>A	6.37:g.88385621C>T							p.T186T	NM_018064.3	NP_060534.1	Q53H80	AKIR2_HUMAN			4	1082	-			186					Q9BQB1	Silent	SNP	ENST00000257787.5	37	c.558G>A	CCDS5013.1																																																																																				0.323	AKIRIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041455.1	NM_018064		14	71	0	0	0	1	0	14	71					T	88385621	C	T	88385621	2	4	435	1	0	0	0	0	0	0	0	1	462	755	27	1		1	AKIRIN2	6	88385621	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	11104	88385621	82729446	3254	24179											
CNR1	1268	broad.mit.edu	37	chr6	88853613	88853613	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtgtctgtggacacagacaTggttaccttggcaatcttga	9	12	11	9	1	2	2	0	1	2	1	2	3	2	3	1	3	1	2	1	3	2	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:88853613T>C	ENST00000537554.1	-	2	4943	c.1381A>G	c.(1381-1383)Atg>Gtg	p.M461V	CNR1_ENST00000428600.2_Missense_Mutation_p.M461V|CNR1_ENST00000549716.1_Missense_Mutation_p.M400V|CNR1_ENST00000468898.1_Missense_Mutation_p.M428V|CNR1_ENST00000535130.1_Missense_Mutation_p.M461V|CNR1_ENST00000369501.2_Missense_Mutation_p.M461V|CNR1_ENST00000549890.1_Missense_Mutation_p.M461V|CNR1_ENST00000369499.2_Missense_Mutation_p.M461V|CNR1_ENST00000362094.5_3'UTR	NM_001160226.1|NM_001160258.1	NP_001153698.1|NP_001153730.1	P21554	CNR1_HUMAN	cannabinoid receptor 1 (brain)	461					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|aging (GO:0007568)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|glucose homeostasis (GO:0042593)|maternal process involved in female pregnancy (GO:0060135)|memory (GO:0007613)|negative regulation of action potential (GO:0045759)|negative regulation of blood pressure (GO:0045776)|negative regulation of dopamine secretion (GO:0033602)|negative regulation of fatty acid beta-oxidation (GO:0031999)|negative regulation of mast cell activation (GO:0033004)|negative regulation of nitric-oxide synthase activity (GO:0051001)|positive regulation of acute inflammatory response to antigenic stimulus (GO:0002866)|positive regulation of apoptotic process (GO:0043065)|positive regulation of blood pressure (GO:0045777)|positive regulation of fever generation (GO:0031622)|positive regulation of neuron projection development (GO:0010976)|regulation of feeding behavior (GO:0060259)|regulation of insulin secretion (GO:0050796)|regulation of penile erection (GO:0060405)|regulation of synaptic transmission, GABAergic (GO:0032228)|regulation of synaptic transmission, glutamatergic (GO:0051966)|response to cocaine (GO:0042220)|response to ethanol (GO:0045471)|response to lipopolysaccharide (GO:0032496)|response to morphine (GO:0043278)|response to nicotine (GO:0035094)|response to nutrient (GO:0007584)|sensory perception of pain (GO:0019233)|spermatogenesis (GO:0007283)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cannabinoid receptor activity (GO:0004949)|drug binding (GO:0008144)			breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|prostate(1)|skin(10)|urinary_tract(1)	37		all_cancers(76;8.24e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;4.11e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.00011)		BRCA - Breast invasive adenocarcinoma(108;0.15)	Dronabinol(DB00470)|Nabilone(DB00486)|Rimonabant(DB06155)	GACACAGACATGGTTACCTTG	0.507																																						ENST00000537554.1																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|prostate(1)|skin(10)|urinary_tract(1)	37						c.(1381-1383)Atg>Gtg		cannabinoid receptor 1 (brain)	Marinol(DB00470)|Nabilone(DB00486)|Rimonabant(DB06155)						206	192	197					6																	88853613		2203	4300	6503	SO:0001583	missense	0				G-protein signaling, coupled to cAMP nucleotide second messenger	integral to plasma membrane	cannabinoid receptor activity|protein binding	g.chr6:88853613T>C	AF107262	CCDS5015.1, CCDS5016.1, CCDS5016.2	6q14-q15	2012-08-08			ENSG00000118432	ENSG00000118432		"GPCR / Class A : Cannabinoid receptors"	2159	protein-coding gene	gene with protein product		114610		CNR			Standard	NM_016083		Approved	CB1K5, CB-R, CB1, CANN6, CB1A	uc003pmq.4	P21554	OTTHUMG00000015184	ENST00000537554.1:c.1381A>G	6.37:g.88853613T>C	ENSP00000441046:p.Met461Val					CNR1_ENST00000468898.1_Missense_Mutation_p.M428V|CNR1_ENST00000428600.2_Missense_Mutation_p.M461V|CNR1_ENST00000549890.1_Missense_Mutation_p.M461V|CNR1_ENST00000369499.2_Missense_Mutation_p.M461V|CNR1_ENST00000369501.2_Missense_Mutation_p.M461V|CNR1_ENST00000549716.1_Missense_Mutation_p.M400V|CNR1_ENST00000362094.5_3'UTR|CNR1_ENST00000535130.1_Missense_Mutation_p.M461V	p.M461V	NM_001160226.1|NM_001160258.1	NP_001153698.1|NP_001153730.1	P21554	CNR1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.15)	2	4943	-		all_cancers(76;8.24e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;4.11e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.00011)	461					B2R9T4|E1P512|Q13949|Q495Z0|Q4PLI4|Q4VBM6|Q5JVL5|Q5UB37|Q9UNN0	Missense_Mutation	SNP	ENST00000537554.1	37	c.1381A>G	CCDS5015.1	.	.	.	.	.	.	.	.	.	.	T	8.621	0.891463	0.17613	.	.	ENSG00000118432	ENST00000369501;ENST00000535130;ENST00000537554;ENST00000369499;ENST00000549890;ENST00000468898;ENST00000428600;ENST00000549716	T;T;T;T;T;T;T;T	0.74106	-0.71;-0.71;-0.71;-0.71;-0.71;-0.81;-0.71;-0.66	5.94	5.94	0.96194	.	0.035510	0.85682	D	0.000000	T	0.38746	0.1052	N	0.17082	0.46	0.80722	D	1	B;B	0.11235	0.003;0.004	B;B	0.06405	0.002;0.002	T	0.44159	-0.9346	10	0.02654	T	1	.	16.3932	0.83546	0.0:0.0:0.0:1.0	.	428;461	P21554-3;P21554	.;CNR1_HUMAN	V	461;461;461;461;461;428;461;400	ENSP00000358513:M461V;ENSP00000442689:M461V;ENSP00000441046:M461V;ENSP00000358511:M461V;ENSP00000446819:M461V;ENSP00000420188:M428V;ENSP00000412192:M461V;ENSP00000449549:M400V	ENSP00000358511:M461V	M	-	1	0	CNR1	88910332	1.000000	0.71417	1.000000	0.80357	0.849000	0.48306	7.694000	0.84235	2.267000	0.75376	0.533000	0.62120	ATG		0.507	CNR1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354204.2			58	86	0	0	0	1	0	58	86					C	88853613	T	C	88853613	3	2	435	1	0	0	0	0	1	0	0	0	3631	1464	51	4	41	4	CNR1	6	88853613	Missense_Mutation	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	467992	88853613	82261454	3255	24180											
CNR1	1268	broad.mit.edu	37	chr6	88853988	88853988	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggctaacctaatgtccatgcGggcttggtctggccgggtca	6	10	14	11	2	2	0	1	0	1	0	3	0	3	0	3	5	2	2	3	5	2	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:88853988G>A	ENST00000537554.1	-	2	4568	c.1006C>T	c.(1006-1008)Cgc>Tgc	p.R336C	CNR1_ENST00000428600.2_Missense_Mutation_p.R336C|CNR1_ENST00000549716.1_Missense_Mutation_p.R275C|CNR1_ENST00000468898.1_Missense_Mutation_p.R303C|CNR1_ENST00000535130.1_Missense_Mutation_p.R336C|CNR1_ENST00000369501.2_Missense_Mutation_p.R336C|CNR1_ENST00000549890.1_Missense_Mutation_p.R336C|CNR1_ENST00000369499.2_Missense_Mutation_p.R336C|CNR1_ENST00000362094.5_3'UTR	NM_001160226.1|NM_001160258.1	NP_001153698.1|NP_001153730.1	P21554	CNR1_HUMAN	cannabinoid receptor 1 (brain)	336					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|aging (GO:0007568)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|glucose homeostasis (GO:0042593)|maternal process involved in female pregnancy (GO:0060135)|memory (GO:0007613)|negative regulation of action potential (GO:0045759)|negative regulation of blood pressure (GO:0045776)|negative regulation of dopamine secretion (GO:0033602)|negative regulation of fatty acid beta-oxidation (GO:0031999)|negative regulation of mast cell activation (GO:0033004)|negative regulation of nitric-oxide synthase activity (GO:0051001)|positive regulation of acute inflammatory response to antigenic stimulus (GO:0002866)|positive regulation of apoptotic process (GO:0043065)|positive regulation of blood pressure (GO:0045777)|positive regulation of fever generation (GO:0031622)|positive regulation of neuron projection development (GO:0010976)|regulation of feeding behavior (GO:0060259)|regulation of insulin secretion (GO:0050796)|regulation of penile erection (GO:0060405)|regulation of synaptic transmission, GABAergic (GO:0032228)|regulation of synaptic transmission, glutamatergic (GO:0051966)|response to cocaine (GO:0042220)|response to ethanol (GO:0045471)|response to lipopolysaccharide (GO:0032496)|response to morphine (GO:0043278)|response to nicotine (GO:0035094)|response to nutrient (GO:0007584)|sensory perception of pain (GO:0019233)|spermatogenesis (GO:0007283)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cannabinoid receptor activity (GO:0004949)|drug binding (GO:0008144)			breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|prostate(1)|skin(10)|urinary_tract(1)	37		all_cancers(76;8.24e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;4.11e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.00011)		BRCA - Breast invasive adenocarcinoma(108;0.15)	Dronabinol(DB00470)|Nabilone(DB00486)|Rimonabant(DB06155)	ATGTCCATGCGGGCTTGGTCT	0.567																																						ENST00000537554.1																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|prostate(1)|skin(10)|urinary_tract(1)	37						c.(1006-1008)Cgc>Tgc		cannabinoid receptor 1 (brain)	Marinol(DB00470)|Nabilone(DB00486)|Rimonabant(DB06155)						162	169	166					6																	88853988		2203	4300	6503	SO:0001583	missense	0				G-protein signaling, coupled to cAMP nucleotide second messenger	integral to plasma membrane	cannabinoid receptor activity|protein binding	g.chr6:88853988G>A	AF107262	CCDS5015.1, CCDS5016.1, CCDS5016.2	6q14-q15	2012-08-08			ENSG00000118432	ENSG00000118432		"GPCR / Class A : Cannabinoid receptors"	2159	protein-coding gene	gene with protein product		114610		CNR			Standard	NM_016083		Approved	CB1K5, CB-R, CB1, CANN6, CB1A	uc003pmq.4	P21554	OTTHUMG00000015184	ENST00000537554.1:c.1006C>T	6.37:g.88853988G>A	ENSP00000441046:p.Arg336Cys					CNR1_ENST00000468898.1_Missense_Mutation_p.R303C|CNR1_ENST00000428600.2_Missense_Mutation_p.R336C|CNR1_ENST00000549890.1_Missense_Mutation_p.R336C|CNR1_ENST00000369499.2_Missense_Mutation_p.R336C|CNR1_ENST00000369501.2_Missense_Mutation_p.R336C|CNR1_ENST00000549716.1_Missense_Mutation_p.R275C|CNR1_ENST00000362094.5_3'UTR|CNR1_ENST00000535130.1_Missense_Mutation_p.R336C	p.R336C	NM_001160226.1|NM_001160258.1	NP_001153698.1|NP_001153730.1	P21554	CNR1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.15)	2	4568	-		all_cancers(76;8.24e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;4.11e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.00011)	336					B2R9T4|E1P512|Q13949|Q495Z0|Q4PLI4|Q4VBM6|Q5JVL5|Q5UB37|Q9UNN0	Missense_Mutation	SNP	ENST00000537554.1	37	c.1006C>T	CCDS5015.1	.	.	.	.	.	.	.	.	.	.	G	19.77	3.888959	0.72524	.	.	ENSG00000118432	ENST00000369501;ENST00000535130;ENST00000537554;ENST00000369499;ENST00000549890;ENST00000468898;ENST00000428600;ENST00000549716	T;T;T;T;T;T;T;T	0.42513	0.97;0.97;0.97;0.97;0.97;0.97;0.97;0.97	6.05	6.05	0.98169	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.65238	0.2672	M	0.81497	2.545	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.997;1.0	T	0.66972	-0.5788	10	0.87932	D	0	.	20.6086	0.99469	0.0:0.0:1.0:0.0	.	303;336	P21554-3;P21554	.;CNR1_HUMAN	C	336;336;336;336;336;303;336;275	ENSP00000358513:R336C;ENSP00000442689:R336C;ENSP00000441046:R336C;ENSP00000358511:R336C;ENSP00000446819:R336C;ENSP00000420188:R303C;ENSP00000412192:R336C;ENSP00000449549:R275C	ENSP00000358511:R336C	R	-	1	0	CNR1	88910707	1.000000	0.71417	1.000000	0.80357	0.714000	0.41099	9.869000	0.99810	2.880000	0.98712	0.655000	0.94253	CGC		0.567	CNR1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354204.2			22	30	0	0	0	1	0	22	30					A	88853988	G	A	88853988	3	1	435	1	0	0	0	0	1	0	0	0	3631	1116	39	2	416	2	CNR1	6	88853988	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	375	88853988	82261079	3256	24181											
SFRS13B	135295	broad.mit.edu	37	chr6	89814883	89814883	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tatttcttccccatgaagaaCttctacttcgagttcttctt	8	18	4	11	1	4	2	0	1	4	1	6	3	5	2	2	0	2	1	2	0	4	9			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:89814883C>T	ENST00000452027.2	-	4	564	c.371G>A	c.(370-372)aGt>aAt	p.S124N		NM_080743.4	NP_542781.3	Q8WXF0	SRS12_HUMAN	serine/arginine-rich splicing factor 12	124	Arg/Ser-rich (RS domain).				cytoplasmic transport (GO:0016482)|mRNA 5'-splice site recognition (GO:0000395)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|spliceosomal tri-snRNP complex assembly (GO:0000244)	nucleoplasm (GO:0005654)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|RS domain binding (GO:0050733)|unfolded protein binding (GO:0051082)			autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(4)	8						CCATGAAGAACTTCTACTTCG	0.418																																						ENST00000452027.2																			0				autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(4)	8						c.(370-372)aGt>aAt		serine/arginine-rich splicing factor 12							76	66	69					6																	89814883		1830	4085	5915	SO:0001583	missense	135295				assembly of spliceosomal tri-snRNP|cytoplasmic transport|negative regulation of nuclear mRNA splicing, via spliceosome|nuclear mRNA 5'-splice site recognition|regulation of alternative nuclear mRNA splicing, via spliceosome	nucleoplasm	nucleotide binding|RNA binding|RS domain binding|unfolded protein binding	g.chr6:89814883C>T	AF449428	CCDS47459.1	6q16.1	2013-02-12	2010-06-22	2010-06-22	ENSG00000154548	ENSG00000154548		"Serine/arginine-rich splicing factors", "RNA binding motif (RRM) containing"	21220	protein-coding gene	gene with protein product	"splicing factor, arginine/serine-rich 19", "SR splicing factor 12"		"splicing factor, arginine/serine-rich 13B"	SFRS13B		11684676, 20516191	Standard	NM_080743		Approved	SRrp35, SFRS19	uc021zcq.1	Q8WXF0	OTTHUMG00000015192	ENST00000452027.2:c.371G>A	6.37:g.89814883C>T	ENSP00000414302:p.Ser124Asn						p.S124N	NM_080743.4	NP_542781.3	Q8WXF0	SRS12_HUMAN			4	564	-			124			Arg/Ser-rich (RS domain).		B2RA22|Q5T7K0|Q8WW25	Missense_Mutation	SNP	ENST00000452027.2	37	c.371G>A	CCDS47459.1	.	.	.	.	.	.	.	.	.	.	C	13.30	2.197200	0.38806	.	.	ENSG00000154548	ENST00000452027	T	0.10192	2.9	5.18	5.18	0.71444	.	0.000000	0.64402	D	0.000001	T	0.20047	0.0482	M	0.71206	2.165	0.43902	D	0.996537	D	0.57899	0.981	D	0.67900	0.954	T	0.03306	-1.1050	10	0.15952	T	0.53	.	17.6188	0.88075	0.0:1.0:0.0:0.0	.	124	Q8WXF0	SRS12_HUMAN	N	124	ENSP00000414302:S124N	ENSP00000414302:S124N	S	-	2	0	SRSF12	89871602	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.538000	0.73852	2.695000	0.91970	0.650000	0.86243	AGT		0.418	SRSF12-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041474.2	NM_080743		14	8	0	0	0	1	0	14	8					T	89814883	C	T	89814883	3	4	435	1	0	0	0	0	1	0	0	0	14169	565	20	3	422	3	SFRS13B	6	89814883	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	960895	89814883	81300184	3257	24182											
GABRR1	2569	broad.mit.edu	37	chr6	89907817	89907817	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tggtgtcgtggatgaaggagCgtttggagtgcacgaaaaac	11	9	16	5	3	0	1	0	1	0	0	1	5	0	4	0	4	3	2	0	4	3	1	rs201812835		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:89907817C>T	ENST00000454853.2	-	5	604	c.494G>A	c.(493-495)cGc>cAc	p.R165H	GABRR1_ENST00000369451.3_Missense_Mutation_p.R78H|GABRR1_ENST00000435811.1_Missense_Mutation_p.R148H	NM_001256704.1|NM_002042.4	NP_001243633.1|NP_002033.2	P24046	GBRR1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, rho 1	165					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(7)|lung(16)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	35		all_cancers(76;9.49e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.46e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;0.000114)		BRCA - Breast invasive adenocarcinoma(108;0.00917)	Adinazolam(DB00546)|Bromazepam(DB01558)|Cinolazepam(DB01594)|Clotiazepam(DB01559)|Diazepam(DB00829)|Estazolam(DB01215)|Fludiazepam(DB01567)|Flurazepam(DB00690)|Halazepam(DB00801)|Midazolam(DB00683)|Nitrazepam(DB01595)|Oxazepam(DB00842)|Prazepam(DB01588)|Quazepam(DB01589)|Temazepam(DB00231)|Triazolam(DB00897)	GATGAAGGAGCGTTTGGAGTG	0.517																																						ENST00000435811.1																			0				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(7)|lung(16)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	35						c.(442-444)cGc>cAc		gamma-aminobutyric acid (GABA) A receptor, rho 1	Picrotoxin(DB00466)						300	258	272					6																	89907817		2203	4300	6503	SO:0001583	missense	2569				gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chr6:89907817C>T		CCDS5019.2, CCDS59028.1, CCDS59029.1	6q15	2012-06-22	2012-02-03		ENSG00000146276	ENSG00000146276		"GABA receptors", "Ligand-gated ion channels / GABA(A) receptors"	4090	protein-coding gene	gene with protein product	"GABA(A) receptor, rho 1"	137161	"gamma-aminobutyric acid (GABA) receptor, rho 1"			1849271, 1315307	Standard	NM_002042		Approved		uc003pna.2	P24046	OTTHUMG00000015195	ENST00000454853.2:c.494G>A	6.37:g.89907817C>T	ENSP00000412673:p.Arg165His					GABRR1_ENST00000369451.3_Missense_Mutation_p.R78H|GABRR1_ENST00000454853.2_Missense_Mutation_p.R165H	p.R148H	NM_001256703.1	NP_001243632.1	P24046	GBRR1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.00917)	4	897	-		all_cancers(76;9.49e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.46e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;0.000114)	165					A1L401|B4DJK8|B4DQT5|B7ZBQ7|Q9BX06	Missense_Mutation	SNP	ENST00000454853.2	37	c.443G>A	CCDS5019.2	.	.	.	.	.	.	.	.	.	.	C	35	5.450683	0.96205	.	.	ENSG00000146276	ENST00000454853;ENST00000435811;ENST00000369451;ENST00000436331	T;T;T	0.78003	-1.14;-1.14;-1.14	5.83	5.83	0.93111	Neurotransmitter-gated ion-channel ligand-binding (3);	0.164006	0.50627	D	0.000117	T	0.80513	0.4637	L	0.37897	1.145	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.72338	0.969;0.977	T	0.77146	-0.2695	9	.	.	.	-27.6943	20.1237	0.97972	0.0:1.0:0.0:0.0	.	148;165	P24046-2;P24046	.;GBRR1_HUMAN	H	165;148;78;78	ENSP00000412673:R165H;ENSP00000394687:R148H;ENSP00000358463:R78H	.	R	-	2	0	GABRR1	89964536	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	5.993000	0.70616	2.759000	0.94783	0.561000	0.74099	CGC		0.517	GABRR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041479.2			75	98	0	0	0	1	0	75	98					T	89907817	C	T	89907817	3	4	435	1	0	0	0	0	1	0	0	0	6176	768	27	1	969	1	GABRR1	6	89907817	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	92934	89907817	81207250	3258	24183											
ANKRD6	22881	broad.mit.edu	37	chr6	90337305	90337305	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctccacttcactcctagatgCgtgttttggacaagctgatg	8	13	9	11	1	1	2	1	1	0	1	3	3	3	3	2	1	2	2	2	1	2	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:90337305C>T	ENST00000522441.1	+	14	2016	c.1375C>T	c.(1375-1377)Cgt>Tgt	p.R459C	ANKRD6_ENST00000339746.4_Missense_Mutation_p.R459C|LYRM2_ENST00000520441.1_Intron|ANKRD6_ENST00000369408.5_Missense_Mutation_p.R424C|ANKRD6_ENST00000447838.2_Missense_Mutation_p.R459C|ANKRD6_ENST00000520793.1_Missense_Mutation_p.R400C	NM_001242811.1	NP_001229740.1	Q9Y2G4	ANKR6_HUMAN	ankyrin repeat domain 6	459					negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of JNK cascade (GO:0046330)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|endometrium(3)|large_intestine(7)|lung(3)|ovary(3)|pancreas(1)|prostate(1)|stomach(2)	21		all_cancers(76;1.22e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.79e-07)|all_epithelial(107;1.83e-05)|Lung NSC(302;0.239)		BRCA - Breast invasive adenocarcinoma(108;0.0209)		CTCCTAGATGCGTGTTTTGGA	0.552																																						ENST00000369408.5																			0				NS(1)|endometrium(3)|large_intestine(7)|lung(3)|ovary(3)|pancreas(1)|prostate(1)|stomach(2)	21						c.(1270-1272)Cgt>Tgt		ankyrin repeat domain 6							73	77	76					6																	90337305		2050	4195	6245	SO:0001583	missense	22881						protein binding	g.chr6:90337305C>T	AB023174	CCDS47460.1, CCDS56441.1, CCDS56442.1, CCDS56443.1	6q14.2-q16.1	2013-03-20			ENSG00000135299	ENSG00000135299		"Ankyrin repeat domain containing"	17280	protein-coding gene	gene with protein product		610583					Standard	NM_001242809		Approved	KIAA0957	uc003pni.4	Q9Y2G4	OTTHUMG00000015202	ENST00000522441.1:c.1375C>T	6.37:g.90337305C>T	ENSP00000430985:p.Arg459Cys					LYRM2_ENST00000520441.1_Intron|ANKRD6_ENST00000520793.1_Missense_Mutation_p.R400C|ANKRD6_ENST00000339746.4_Missense_Mutation_p.R459C|ANKRD6_ENST00000522441.1_Missense_Mutation_p.R459C|ANKRD6_ENST00000447838.2_Missense_Mutation_p.R459C	p.R424C	NM_001242813.1	NP_001229742.1	Q9Y2G4	ANKR6_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0209)	13	1619	+		all_cancers(76;1.22e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.79e-07)|all_epithelial(107;1.83e-05)|Lung NSC(302;0.239)	459					B3KUC3|Q5JUJ4|Q5JUJ5|Q8IUQ8|Q9NU24|Q9UFQ9	Missense_Mutation	SNP	ENST00000522441.1	37	c.1270C>T	CCDS56441.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.46|12.46	1.945124|1.945124	0.34283|0.34283	.|.	.|.	ENSG00000135299|ENSG00000135299	ENST00000492158|ENST00000369408;ENST00000339746;ENST00000447838;ENST00000522441;ENST00000518150;ENST00000520793;ENST00000521004	.|T;T;T;T;T	.|0.70164	.|1.04;1.05;1.05;1.05;-0.46	5.26|5.26	3.41|3.41	0.39046|0.39046	.|.	.|0.125962	.|0.33382	.|N	.|0.004965	T|T	0.36166|0.36166	0.0957|0.0957	L|L	0.38531|0.38531	1.155|1.155	0.80722|0.80722	D|D	1|1	.|B;B;B;B	.|0.26577	.|0.017;0.06;0.153;0.076	.|B;B;B;B	.|0.21151	.|0.002;0.011;0.033;0.026	T|T	0.24621|0.24621	-1.0155|-1.0155	5|10	.|0.46703	.|T	.|0.11	-4.6761|-4.6761	9.2564|9.2564	0.37586|0.37586	0.1454:0.7773:0.0:0.0773|0.1454:0.7773:0.0:0.0773	.|.	.|400;459;424;459	.|B3KUC3;Q9Y2G4;Q9Y2G4-1;C9JJE8	.|.;ANKR6_HUMAN;.;.	V|C	32|424;459;459;459;200;400;14	.|ENSP00000358416:R424C;ENSP00000345767:R459C;ENSP00000396771:R459C;ENSP00000430985:R459C;ENSP00000429782:R400C	.|ENSP00000345767:R459C	A|R	+|+	2|1	0|0	ANKRD6|ANKRD6	90394026|90394026	1.000000|1.000000	0.71417|0.71417	0.983000|0.983000	0.44433|0.44433	0.566000|0.566000	0.35808|0.35808	1.702000|1.702000	0.37836|0.37836	0.539000|0.539000	0.28788|0.28788	0.563000|0.563000	0.77884|0.77884	GCG|CGT		0.552	ANKRD6-006	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000376594.1			13	17	0	0	0	1	0	13	17					T	90337305	C	T	90337305	3	4	435	1	0	0	0	0	1	0	0	0	685	768	27	1	1425	1	ANKRD6	6	90337305	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	429488	90337305	80777762	3259	24184											
MDN1	23195	broad.mit.edu	37	chr6	90422347	90422347	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttgagacaatatactaagatCtgtccatctcttcggactgt	11	14	7	9	1	2	2	0	1	2	2	5	4	3	3	1	1	1	0	1	1	4	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:90422347C>T	ENST00000369393.3	-	48	7492	c.7377G>A	c.(7375-7377)caG>caA	p.Q2459Q	MDN1_ENST00000428876.1_Silent_p.Q2459Q			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	2459					ATP catabolic process (GO:0006200)|protein complex assembly (GO:0006461)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|unfolded protein binding (GO:0051082)			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		ATACTAAGATCTGTCCATCTC	0.483																																						ENST00000369393.3																			0				NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218						c.(7375-7377)caG>caA		MDN1, midasin homolog (yeast)							134	135	134					6																	90422347		2203	4300	6503	SO:0001819	synonymous_variant	23195				protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding	g.chr6:90422347C>T	AF503925	CCDS5024.1	6q15	2014-01-28			ENSG00000112159	ENSG00000112159			18302	protein-coding gene	gene with protein product						9205841, 12102729	Standard	XM_005248699		Approved	KIAA0301	uc003pnn.1	Q9NU22	OTTHUMG00000015213	ENST00000369393.3:c.7377G>A	6.37:g.90422347C>T						MDN1_ENST00000428876.1_Silent_p.Q2459Q	p.Q2459Q			Q9NU22	MDN1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0193)	48	7492	-		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)	2459					O15019|Q5T794	Silent	SNP	ENST00000369393.3	37	c.7377G>A	CCDS5024.1																																																																																				0.483	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041514.2			33	52	0	0	0	1	0	33	52					T	90422347	C	T	90422347	2	4	435	1	0	0	0	0	0	0	0	1	9415	912	32	3		3	MDN1	6	90422347	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	85042	90422347	80692720	3260	24185											
MDN1	23195	broad.mit.edu	37	chr6	90425472	90425472	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttcaagcaaagcattcaaacGatccaacactgatgggctgc	14	8	8	11	1	2	1	2	1	0	0	3	2	3	1	1	1	5	3	1	1	4	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:90425472G>A	ENST00000369393.3	-	45	6875	c.6760C>T	c.(6760-6762)Cgt>Tgt	p.R2254C	MDN1_ENST00000428876.1_Missense_Mutation_p.R2254C			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	2254					ATP catabolic process (GO:0006200)|protein complex assembly (GO:0006461)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|unfolded protein binding (GO:0051082)			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		GCATTCAAACGATCCAACACT	0.478																																						ENST00000369393.3																			0				NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218						c.(6760-6762)Cgt>Tgt		MDN1, midasin homolog (yeast)							136	124	128					6																	90425472		2203	4300	6503	SO:0001583	missense	23195				protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding	g.chr6:90425472G>A	AF503925	CCDS5024.1	6q15	2014-01-28			ENSG00000112159	ENSG00000112159			18302	protein-coding gene	gene with protein product						9205841, 12102729	Standard	XM_005248699		Approved	KIAA0301	uc003pnn.1	Q9NU22	OTTHUMG00000015213	ENST00000369393.3:c.6760C>T	6.37:g.90425472G>A	ENSP00000358400:p.Arg2254Cys					MDN1_ENST00000428876.1_Missense_Mutation_p.R2254C	p.R2254C			Q9NU22	MDN1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0193)	45	6875	-		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)	2254					O15019|Q5T794	Missense_Mutation	SNP	ENST00000369393.3	37	c.6760C>T	CCDS5024.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.072827	0.76415	.	.	ENSG00000112159	ENST00000369393;ENST00000428876	T;T	0.55588	0.51;0.51	5.51	5.51	0.81932	ATPase, AAA+ type, core (1);ATPase, dynein-related, AAA domain (1);	0.000000	0.85682	D	0.000000	T	0.75406	0.3845	M	0.89414	3.03	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.79240	-0.1885	10	0.72032	D	0.01	.	19.7818	0.96418	0.0:0.0:1.0:0.0	.	2254	Q9NU22	MDN1_HUMAN	C	2254	ENSP00000358400:R2254C;ENSP00000413970:R2254C	ENSP00000358400:R2254C	R	-	1	0	MDN1	90482193	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	9.512000	0.98008	2.736000	0.93811	0.655000	0.94253	CGT		0.478	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041514.2			29	41	0	0	0	1	0	29	41					A	90425472	G	A	90425472	3	1	435	1	0	0	0	0	1	0	0	0	9415	1058	37	2	10262	2	MDN1	6	90425472	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	3125	90425472	80689595	3261	24186											
MDN1	23195	broad.mit.edu	37	chr6	90426431	90426431	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttcagggcctgaaccaacatGctgtcaacccattcaaatgt	12	10	7	12	0	3	1	3	1	0	0	3	1	3	1	3	1	4	1	3	1	4	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:90426431G>A	ENST00000369393.3	-	44	6796	c.6681C>T	c.(6679-6681)agC>agT	p.S2227S	MDN1_ENST00000428876.1_Silent_p.S2227S			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	2227					ATP catabolic process (GO:0006200)|protein complex assembly (GO:0006461)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|unfolded protein binding (GO:0051082)			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		GAACCAACATGCTGTCAACCC	0.468																																						ENST00000369393.3																			0				NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218						c.(6679-6681)agC>agT		MDN1, midasin homolog (yeast)							119	98	105					6																	90426431		2203	4300	6503	SO:0001819	synonymous_variant	23195				protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding	g.chr6:90426431G>A	AF503925	CCDS5024.1	6q15	2014-01-28			ENSG00000112159	ENSG00000112159			18302	protein-coding gene	gene with protein product						9205841, 12102729	Standard	XM_005248699		Approved	KIAA0301	uc003pnn.1	Q9NU22	OTTHUMG00000015213	ENST00000369393.3:c.6681C>T	6.37:g.90426431G>A						MDN1_ENST00000428876.1_Silent_p.S2227S	p.S2227S			Q9NU22	MDN1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0193)	44	6796	-		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)	2227					O15019|Q5T794	Silent	SNP	ENST00000369393.3	37	c.6681C>T	CCDS5024.1																																																																																				0.468	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041514.2			6	67	0	0	0	1	0	6	67					A	90426431	G	A	90426431	2	1	435	1	0	0	0	0	0	0	0	1	9415	1310	46	3		3	MDN1	6	90426431	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	959	90426431	80688636	3262	24187											
MDN1	23195	broad.mit.edu	37	chr6	90428725	90428725	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgggtgaggaacacagctccCacgggaaaggactgagtagc	12	4	15	10	2	0	2	0	2	0	0	1	5	1	5	1	4	3	2	1	4	3	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:90428725C>T	ENST00000369393.3	-	42	6197	c.6082G>A	c.(6082-6084)Ggg>Agg	p.G2028R	MDN1_ENST00000428876.1_Missense_Mutation_p.G2028R			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	2028					ATP catabolic process (GO:0006200)|protein complex assembly (GO:0006461)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|unfolded protein binding (GO:0051082)			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		ACACAGCTCCCACGGGAAAGG	0.512																																						ENST00000369393.3																			0				NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218						c.(6082-6084)Ggg>Agg		MDN1, midasin homolog (yeast)							65	69	67					6																	90428725		2203	4300	6503	SO:0001583	missense	23195				protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding	g.chr6:90428725C>T	AF503925	CCDS5024.1	6q15	2014-01-28			ENSG00000112159	ENSG00000112159			18302	protein-coding gene	gene with protein product						9205841, 12102729	Standard	XM_005248699		Approved	KIAA0301	uc003pnn.1	Q9NU22	OTTHUMG00000015213	ENST00000369393.3:c.6082G>A	6.37:g.90428725C>T	ENSP00000358400:p.Gly2028Arg					MDN1_ENST00000428876.1_Missense_Mutation_p.G2028R	p.G2028R			Q9NU22	MDN1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0193)	42	6197	-		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)	2028					O15019|Q5T794	Missense_Mutation	SNP	ENST00000369393.3	37	c.6082G>A	CCDS5024.1	.	.	.	.	.	.	.	.	.	.	C	11.68	1.710515	0.30322	.	.	ENSG00000112159	ENST00000369393;ENST00000428876	T;T	0.03124	4.04;4.04	5.63	2.78	0.32641	.	0.284415	0.37393	N	0.002112	T	0.00524	0.0017	N	0.04787	-0.16	0.28651	N	0.906669	B	0.23591	0.088	B	0.26517	0.07	T	0.45264	-0.9273	10	0.12430	T	0.62	.	4.8827	0.13688	0.0:0.5063:0.1548:0.3389	.	2028	Q9NU22	MDN1_HUMAN	R	2028	ENSP00000358400:G2028R;ENSP00000413970:G2028R	ENSP00000358400:G2028R	G	-	1	0	MDN1	90485446	0.896000	0.30565	0.994000	0.49952	0.991000	0.79684	0.775000	0.26689	0.670000	0.31165	0.650000	0.86243	GGG		0.512	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041514.2			10	25	0	0	0	1	0	10	25					T	90428725	C	T	90428725	3	4	435	1	0	0	0	0	1	0	0	0	9415	594	21	3	10952	3	MDN1	6	90428725	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	2294	90428725	80686342	3263	24188											
MDN1	23195	broad.mit.edu	37	chr6	90437643	90437643	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctcccttgccaccttcaacaGgtagatctgctccaaacagg	10	9	7	15	0	2	1	1	0	1	1	4	1	4	1	4	2	4	2	4	2	3	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:90437643G>T	ENST00000369393.3	-	37	5496	c.5381C>A	c.(5380-5382)cCt>cAt	p.P1794H	MDN1_ENST00000428876.1_Missense_Mutation_p.P1794H			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	1794					ATP catabolic process (GO:0006200)|protein complex assembly (GO:0006461)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|unfolded protein binding (GO:0051082)			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		ACCTTCAACAGGTAGATCTGC	0.488																																						ENST00000369393.3																			0				NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218						c.(5380-5382)cCt>cAt		MDN1, midasin homolog (yeast)							143	120	127					6																	90437643		2203	4300	6503	SO:0001583	missense	23195				protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding	g.chr6:90437643G>T	AF503925	CCDS5024.1	6q15	2014-01-28			ENSG00000112159	ENSG00000112159			18302	protein-coding gene	gene with protein product						9205841, 12102729	Standard	XM_005248699		Approved	KIAA0301	uc003pnn.1	Q9NU22	OTTHUMG00000015213	ENST00000369393.3:c.5381C>A	6.37:g.90437643G>T	ENSP00000358400:p.Pro1794His					MDN1_ENST00000428876.1_Missense_Mutation_p.P1794H	p.P1794H			Q9NU22	MDN1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0193)	37	5496	-		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)	1794					O15019|Q5T794	Missense_Mutation	SNP	ENST00000369393.3	37	c.5381C>A	CCDS5024.1	.	.	.	.	.	.	.	.	.	.	G	17.65	3.441031	0.63067	.	.	ENSG00000112159	ENST00000369393;ENST00000428876	T;T	0.55413	0.52;0.52	5.5	5.5	0.81552	ATPase, AAA+ type, core (1);ATPase, dynein-related, AAA domain (1);	0.000000	0.85682	D	0.000000	T	0.74030	0.3663	M	0.87971	2.92	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.78743	-0.2085	10	0.87932	D	0	.	18.9921	0.92796	0.0:0.0:1.0:0.0	.	1794	Q9NU22	MDN1_HUMAN	H	1794	ENSP00000358400:P1794H;ENSP00000413970:P1794H	ENSP00000358400:P1794H	P	-	2	0	MDN1	90494364	1.000000	0.71417	1.000000	0.80357	0.735000	0.41995	9.459000	0.97638	2.585000	0.87301	0.563000	0.77884	CCT		0.488	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041514.2			4	54	1	0	0.014758	1	0.0148771	4	54					T	90437643	G	T	90437643	3	4	435	1	0	0	0	0	1	0	0	0	9415	1000	35	5	11673	5	MDN1	6	90437643	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	8918	90437643	80677424	3264	24189											
MDN1	23195	broad.mit.edu	37	chr6	90484448	90484448	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tataaagttgacaaaagaatTcagcctgtaggaggtaagat	17	10	10	4	0	1	3	1	1	0	2	1	4	1	4	1	2	1	3	1	2	8	6			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:90484448T>C	ENST00000369393.3	-	13	1941	c.1826A>G	c.(1825-1827)gAa>gGa	p.E609G	MDN1_ENST00000428876.1_Missense_Mutation_p.E609G			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	609					ATP catabolic process (GO:0006200)|protein complex assembly (GO:0006461)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|unfolded protein binding (GO:0051082)			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		ACAAAAGAATTCAGCCTGTAG	0.403																																						ENST00000369393.3																			0				NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218						c.(1825-1827)gAa>gGa		MDN1, midasin homolog (yeast)							100	95	97					6																	90484448		2203	4300	6503	SO:0001583	missense	23195				protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding	g.chr6:90484448T>C	AF503925	CCDS5024.1	6q15	2014-01-28			ENSG00000112159	ENSG00000112159			18302	protein-coding gene	gene with protein product						9205841, 12102729	Standard	XM_005248699		Approved	KIAA0301	uc003pnn.1	Q9NU22	OTTHUMG00000015213	ENST00000369393.3:c.1826A>G	6.37:g.90484448T>C	ENSP00000358400:p.Glu609Gly					MDN1_ENST00000428876.1_Missense_Mutation_p.E609G	p.E609G			Q9NU22	MDN1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0193)	13	1941	-		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)	609					O15019|Q5T794	Missense_Mutation	SNP	ENST00000369393.3	37	c.1826A>G	CCDS5024.1	.	.	.	.	.	.	.	.	.	.	T	10.54	1.379114	0.24944	.	.	ENSG00000112159	ENST00000369393;ENST00000428876;ENST00000439638	T;T;T	0.20463	3.84;3.84;2.07	5.32	5.32	0.75619	ATPase, AAA+ type, core (1);	0.143577	0.45867	D	0.000321	T	0.21921	0.0528	M	0.81802	2.56	0.47308	D	0.999385	P;B	0.36392	0.551;0.249	B;B	0.40602	0.334;0.122	T	0.03259	-1.1055	10	0.51188	T	0.08	.	14.9554	0.71110	0.0:0.0:0.0:1.0	.	536;609	Q5T795;Q9NU22	.;MDN1_HUMAN	G	609;609;536	ENSP00000358400:E609G;ENSP00000413970:E609G;ENSP00000409664:E536G	ENSP00000358400:E609G	E	-	2	0	MDN1	90541169	1.000000	0.71417	0.938000	0.37757	0.341000	0.28922	6.029000	0.70895	2.018000	0.59344	0.533000	0.62120	GAA		0.403	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041514.2			20	28	0	0	0	1	0	20	28					C	90484448	T	C	90484448	3	2	435	1	0	0	0	0	1	0	0	0	9415	1783	62	4	15324	4	MDN1	6	90484448	Missense_Mutation	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	46805	90484448	80630619	3265	24190											
CASP8AP2	9994	broad.mit.edu	37	chr6	90575884	90575884	+	RNA	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaaaaattccaaacgtagaGtgtcagctgatgtgcggaag	16	8	11	6	2	1	2	1	1	0	1	2	3	2	3	1	1	3	2	1	1	6	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:90575884G>T	ENST00000551025.1	+	0	4312									caspase 8 associated protein 2											NS(1)|endometrium(7)|kidney(6)|large_intestine(12)|lung(21)|ovary(2)|urinary_tract(2)	51		all_cancers(76;3.64e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;4.69e-05)|Lung NSC(302;0.238)		BRCA - Breast invasive adenocarcinoma(108;0.0953)		CAAACGTAGAGTGTCAGCTGA	0.358																																					Colon(187;1656 2025 17045 31481 39901)	ENST00000551025.1																			0				NS(1)|endometrium(7)|kidney(6)|large_intestine(12)|lung(21)|ovary(2)|urinary_tract(2)	51								caspase 8 associated protein 2							42	41	41					6																	90575884		1876	4107	5983			9994				cell cycle|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	cytoplasm|nucleus	caspase activator activity|death receptor binding|transcription corepressor activity	g.chr6:90575884G>T	AB037736		6q15	2012-04-19	2008-10-30		ENSG00000118412	ENSG00000118412			1510	protein-coding gene	gene with protein product	"FLICE-associated huge protein"	606880	"CASP8 associated protein 2"			10235259, 17245429, 17003126	Standard	NM_001137668		Approved	FLASH, CED-4, RIP25, FLJ11208, KIAA1315	uc011dzz.2	Q9UKL3	OTTHUMG00000015212		6.37:g.90575884G>T										Q9UKL3	C8AP2_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0953)	0	4312	+		all_cancers(76;3.64e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;4.69e-05)|Lung NSC(302;0.238)							RNA	SNP	ENST00000551025.1	37																																																																																						0.358	CASP8AP2-202	KNOWN	basic	processed_transcript	processed_transcript		NM_001137667		3	20	1	0	0.004672	1	0.00472505	3	20					T	90575884	G	T	90575884	1	4	435	0	1	0	0	0	0	0	0	0	2678	1029	36	5		5	CASP8AP2	6	90575884	RNA	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	91436	90575884	80539183	3266	24191											
CASP8AP2	9994	broad.mit.edu	37	chr6	90577857	90577857	+	RNA	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcaactcatgaagaacagagCtctatgatacaaacacaggt	17	8	7	9	0	3	4	2	2	1	2	3	4	3	4	0	1	5	1	0	1	6	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:90577857C>T	ENST00000551025.1	+	0	6285									caspase 8 associated protein 2											NS(1)|endometrium(7)|kidney(6)|large_intestine(12)|lung(21)|ovary(2)|urinary_tract(2)	51		all_cancers(76;3.64e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;4.69e-05)|Lung NSC(302;0.238)		BRCA - Breast invasive adenocarcinoma(108;0.0953)		AAGAACAGAGCTCTATGATAC	0.343																																					Colon(187;1656 2025 17045 31481 39901)	ENST00000551025.1																			0				NS(1)|endometrium(7)|kidney(6)|large_intestine(12)|lung(21)|ovary(2)|urinary_tract(2)	51								caspase 8 associated protein 2							50	50	50					6																	90577857		1858	4102	5960			9994				cell cycle|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	cytoplasm|nucleus	caspase activator activity|death receptor binding|transcription corepressor activity	g.chr6:90577857C>T	AB037736		6q15	2012-04-19	2008-10-30		ENSG00000118412	ENSG00000118412			1510	protein-coding gene	gene with protein product	"FLICE-associated huge protein"	606880	"CASP8 associated protein 2"			10235259, 17245429, 17003126	Standard	NM_001137668		Approved	FLASH, CED-4, RIP25, FLJ11208, KIAA1315	uc011dzz.2	Q9UKL3	OTTHUMG00000015212		6.37:g.90577857C>T										Q9UKL3	C8AP2_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0953)	0	6285	+		all_cancers(76;3.64e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;4.69e-05)|Lung NSC(302;0.238)							RNA	SNP	ENST00000551025.1	37																																																																																						0.343	CASP8AP2-202	KNOWN	basic	processed_transcript	processed_transcript		NM_001137667		10	19	0	0	0	1	0	10	19					T	90577857	C	T	90577857	1	4	435	0	1	0	0	0	0	0	0	0	2678	796	28	3		3	CASP8AP2	6	90577857	RNA	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	1973	90577857	80537210	3267	24192											
EPHA7	2045	broad.mit.edu	37	chr6	94066493	94066493	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctgggatcggcttaagtcAgaaactccatttacagcttc	10	12	8	11	1	2	1	1	0	1	1	5	2	3	2	1	2	3	2	1	2	3	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:94066493A>G	ENST00000369303.4	-	5	1450	c.1266T>C	c.(1264-1266)tcT>tcC	p.S422S		NM_004440.3	NP_004431.1	Q15375	EPHA7_HUMAN	EPH receptor A7	422	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				brain development (GO:0007420)|branching morphogenesis of a nerve (GO:0048755)|ephrin receptor signaling pathway (GO:0048013)|negative chemotaxis (GO:0050919)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of neuron apoptotic process (GO:0043525)|regulation of cell-cell adhesion (GO:0022407)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|regulation of protein autophosphorylation (GO:0031952)|retinal ganglion cell axon guidance (GO:0031290)	dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|chemorepellent activity (GO:0045499)|GPI-linked ephrin receptor activity (GO:0005004)|protein tyrosine kinase activity (GO:0004713)			NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)		BRCA - Breast invasive adenocarcinoma(108;0.0847)		GGCTTAAGTCAGAAACTCCAT	0.433																																						ENST00000369303.4																			0				NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112						c.(1264-1266)tcT>tcC		EPH receptor A7							114	114	114					6																	94066493		2203	4300	6503	SO:0001819	synonymous_variant	2045					integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr6:94066493A>G	L36642	CCDS5031.1, CCDS75494.1	6q16.3	2013-02-11	2004-10-28		ENSG00000135333	ENSG00000135333		"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3390	protein-coding gene	gene with protein product		602190	"EphA7"			9267020	Standard	NM_004440		Approved	Hek11	uc003poe.3	Q15375	OTTHUMG00000015228	ENST00000369303.4:c.1266T>C	6.37:g.94066493A>G							p.S422S	NM_004440.3	NP_004431.1	Q15375	EPHA7_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0847)	5	1450	-		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)	422			Fibronectin type-III 1.		A0AUX7|B2R8W1|B7ZLJ9|B7ZLK0|Q59G40|Q5VTU0|Q8N368|Q9H124	Silent	SNP	ENST00000369303.4	37	c.1266T>C	CCDS5031.1																																																																																				0.433	EPHA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041545.1			7	23	0	0	0	1	0	7	23					G	94066493	A	G	94066493	2	3	435	1	0	0	0	0	0	0	0	1	5172	175	7	4		4	EPHA7	6	94066493	Silent	SNP	A	TCGA-XK-AAIW-01A-11D-A41K-08	3488636	94066493	77048574	3268	24193											
KIAA0776	23376	broad.mit.edu	37	chr6	96988479	96988479	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caaatctccactttagaaagCgttagtacaagtaaaaagga	18	9	7	7	1	1	1	0	0	1	1	2	2	1	2	1	1	2	3	1	1	9	5	rs571271097		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:96988479C>T	ENST00000369278.4	+	11	1293	c.1227C>T	c.(1225-1227)agC>agT	p.S409S		NM_015323.4	NP_056138.1	O94874	UFL1_HUMAN	UFM1-specific ligase 1	409					negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein ubiquitination (GO:0031397)|osteoblast differentiation (GO:0001649)|protein ufmylation (GO:0071569)|regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032434)|response to endoplasmic reticulum stress (GO:0034976)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleus (GO:0005634)	UFM1 conjugating enzyme activity (GO:0071568)										CTTTAGAAAGCGTTAGTACAA	0.299													C|||	1	0.000199681	8e-04	0	5008	,	,		17357	0		0	False		,,,				2504	0					ENST00000369278.4																			0											c.(1225-1227)agC>agT		UFM1-specific ligase 1							64	65	65					6																	96988479		2203	4295	6498	SO:0001819	synonymous_variant	23376				negative regulation of NF-kappaB transcription factor activity|negative regulation of protein ubiquitination|protein ufmylation	endoplasmic reticulum|nucleus	protein binding|UFM1 conjugating enzyme activity	g.chr6:96988479C>T	BC036379	CCDS5034.1	6q16.3	2011-08-18	2011-08-18	2011-08-18	ENSG00000014123	ENSG00000014123			23039	protein-coding gene	gene with protein product	"novel LZAP-binding protein", "Regulator of CDK5RAP3 and DDRGK1"	613372	"KIAA0776"	KIAA0776		20018847, 20164180, 20228063, 20531390	Standard	NM_015323		Approved	NLBP, Maxer, RCAD	uc003por.3	O94874	OTTHUMG00000015238	ENST00000369278.4:c.1227C>T	6.37:g.96988479C>T							p.S409S	NM_015323.4	NP_056138.1	O94874	UFL1_HUMAN			11	1293	+			409					A0PJ53|B4DJ57|C0H5X5|Q8N765|Q9NTQ0	Silent	SNP	ENST00000369278.4	37	c.1227C>T	CCDS5034.1																																																																																				0.299	UFL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041557.1	NM_015323		12	22	0	0	0	1	0	12	22					T	96988479	C	T	96988479	2	4	435	1	0	0	0	0	0	0	0	1	8193	767	27	1		1	KIAA0776	6	96988479	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	2921986	96988479	74126588	3269	24194											
FHL5	9457	broad.mit.edu	37	chr6	97051568	97051568	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	atgtactaaaggatgacagtCcatactgtgttacatgttat	13	14	8	6	0	0	1	0	1	0	0	1	2	1	2	1	1	3	3	1	1	6	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:97051568C>T	ENST00000326771.2	+	3	459	c.79C>T	c.(79-81)Cca>Tca	p.P27S	FHL5_ENST00000541107.1_Missense_Mutation_p.P27S	NM_020482.4	NP_065228.4	Q5TD97	FHL5_HUMAN	four and a half LIM domains 5	27					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(2)|urinary_tract(1)	27		all_cancers(76;1.57e-07)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00266)|Colorectal(196;0.0341)|Lung NSC(302;0.204)		BRCA - Breast invasive adenocarcinoma(108;0.0948)		GGATGACAGTCCATACTGTGT	0.353																																						ENST00000326771.2																			0				endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(2)|urinary_tract(1)	27						c.(79-81)Cca>Tca		four and a half LIM domains 5							182	156	165					6																	97051568		2203	4300	6503	SO:0001583	missense	9457					nucleus	zinc ion binding	g.chr6:97051568C>T	AF278541	CCDS5035.1	6q16.1-q16.3	2008-02-05			ENSG00000112214	ENSG00000112214			17371	protein-coding gene	gene with protein product		605126					Standard	NM_020482		Approved	FLJ33049, ACT, dJ393D12.2	uc003pot.2	Q5TD97	OTTHUMG00000015239	ENST00000326771.2:c.79C>T	6.37:g.97051568C>T	ENSP00000326022:p.Pro27Ser					FHL5_ENST00000541107.1_Missense_Mutation_p.P27S	p.P27S	NM_020482.4	NP_065228.4	Q5TD97	FHL5_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0948)	3	459	+		all_cancers(76;1.57e-07)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00266)|Colorectal(196;0.0341)|Lung NSC(302;0.204)	27					B2RBD1|E1P526|Q5TD98|Q8WW21|Q9NQU2	Missense_Mutation	SNP	ENST00000326771.2	37	c.79C>T	CCDS5035.1	.	.	.	.	.	.	.	.	.	.	C	5.976	0.364096	0.11296	.	.	ENSG00000112214	ENST00000541107;ENST00000326771;ENST00000450218	D;D;D	0.88201	-2.35;-2.35;-2.35	5.65	2.82	0.32997	Zinc finger, LIM-type (1);	0.744263	0.11575	N	0.550338	D	0.85221	0.5647	M	0.87180	2.865	0.09310	N	1	P	0.44006	0.824	B	0.39339	0.297	T	0.78059	-0.2352	10	0.66056	D	0.02	.	13.0512	0.58957	0.0959:0.6083:0.2958:0.0	.	27	Q5TD97	FHL5_HUMAN	S	27	ENSP00000442357:P27S;ENSP00000326022:P27S;ENSP00000396390:P27S	ENSP00000326022:P27S	P	+	1	0	FHL5	97158289	0.001000	0.12720	0.203000	0.23512	0.024000	0.10985	1.317000	0.33631	0.740000	0.32651	-0.189000	0.12847	CCA		0.353	FHL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041559.1	NM_020482		38	54	0	0	0	1	0	38	54					T	97051568	C	T	97051568	3	4	435	1	0	0	0	0	1	0	0	0	5881	855	30	3	81	3	FHL5	6	97051568	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	63089	97051568	74063499	3270	24195											
FHL5	9457	broad.mit.edu	37	chr6	97051589	97051589	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	catactgtgttacatgttatGatcgtgtattttctaactat	10	19	6	6	1	1	1	0	1	1	0	2	1	1	1	0	0	3	3	0	0	6	8			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:97051589G>A	ENST00000326771.2	+	3	480	c.100G>A	c.(100-102)Gat>Aat	p.D34N	FHL5_ENST00000541107.1_Missense_Mutation_p.D34N	NM_020482.4	NP_065228.4	Q5TD97	FHL5_HUMAN	four and a half LIM domains 5	34					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(2)|urinary_tract(1)	27		all_cancers(76;1.57e-07)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00266)|Colorectal(196;0.0341)|Lung NSC(302;0.204)		BRCA - Breast invasive adenocarcinoma(108;0.0948)		TACATGTTATGATCGTGTATT	0.358																																						ENST00000326771.2																			0				endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(2)|urinary_tract(1)	27						c.(100-102)Gat>Aat		four and a half LIM domains 5							173	151	159					6																	97051589		2203	4300	6503	SO:0001583	missense	9457					nucleus	zinc ion binding	g.chr6:97051589G>A	AF278541	CCDS5035.1	6q16.1-q16.3	2008-02-05			ENSG00000112214	ENSG00000112214			17371	protein-coding gene	gene with protein product		605126					Standard	NM_020482		Approved	FLJ33049, ACT, dJ393D12.2	uc003pot.2	Q5TD97	OTTHUMG00000015239	ENST00000326771.2:c.100G>A	6.37:g.97051589G>A	ENSP00000326022:p.Asp34Asn					FHL5_ENST00000541107.1_Missense_Mutation_p.D34N	p.D34N	NM_020482.4	NP_065228.4	Q5TD97	FHL5_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0948)	3	480	+		all_cancers(76;1.57e-07)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00266)|Colorectal(196;0.0341)|Lung NSC(302;0.204)	34					B2RBD1|E1P526|Q5TD98|Q8WW21|Q9NQU2	Missense_Mutation	SNP	ENST00000326771.2	37	c.100G>A	CCDS5035.1	.	.	.	.	.	.	.	.	.	.	G	11.93	1.786554	0.31593	.	.	ENSG00000112214	ENST00000541107;ENST00000326771;ENST00000450218	D;D;D	0.87256	-2.23;-2.23;-2.23	5.65	4.79	0.61399	Zinc finger, LIM-type (1);	0.307617	0.23500	N	0.047517	T	0.79046	0.4380	M	0.66939	2.045	0.52501	D	0.999953	P	0.42483	0.781	B	0.38500	0.275	T	0.81536	-0.0888	10	0.62326	D	0.03	.	10.2239	0.43214	0.0706:0.1372:0.7923:0.0	.	34	Q5TD97	FHL5_HUMAN	N	34	ENSP00000442357:D34N;ENSP00000326022:D34N;ENSP00000396390:D34N	ENSP00000326022:D34N	D	+	1	0	FHL5	97158310	1.000000	0.71417	0.901000	0.35422	0.010000	0.07245	5.820000	0.69250	1.389000	0.46526	-0.195000	0.12781	GAT		0.358	FHL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041559.1	NM_020482		39	52	0	0	0	1	0	39	52					A	97051589	G	A	97051589	3	1	435	1	0	0	0	0	1	0	0	0	5881	1290	45	3	102	3	FHL5	6	97051589	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	21	97051589	74063478	3271	24196											
GPR63	81491	broad.mit.edu	37	chr6	97246676	97246676	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaaaatagtggtgaaggcaCgtgttttaaagcccatgtca	13	11	10	7	1	2	1	2	1	0	0	2	1	2	1	1	2	1	2	1	2	6	3	rs560918889		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:97246676C>T	ENST00000229955.3	-	2	1277	c.932G>A	c.(931-933)cGt>cAt	p.R311H	GPR63_ENST00000417980.1_Missense_Mutation_p.R311H|RP3-417O22.3_ENST00000442184.1_RNA	NM_001143957.2|NM_030784.3	NP_001137429.1|NP_110411.1	Q9BZJ6	GPR63_HUMAN	G protein-coupled receptor 63	311						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	G-protein coupled receptor activity (GO:0004930)			kidney(1)|large_intestine(5)|lung(13)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_cancers(76;6.89e-05)|Acute lymphoblastic leukemia(125;7.02e-10)|all_hematologic(75;1.23e-06)|all_epithelial(107;0.0618)|Colorectal(196;0.0721)		BRCA - Breast invasive adenocarcinoma(108;0.0912)		GGTGAAGGCACGTGTTTTAAA	0.478													C|||	1	0.000199681	0	0	5008	,	,		21637	0		0	False		,,,				2504	0.001					ENST00000229955.3																			0				kidney(1)|large_intestine(5)|lung(13)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						c.(931-933)cGt>cAt		G protein-coupled receptor 63							114	95	101					6																	97246676		2203	4300	6503	SO:0001583	missense	0					integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding	g.chr6:97246676C>T	AF317654	CCDS5036.1	6q16.1-q16.3	2012-08-21			ENSG00000112218	ENSG00000112218		"GPCR / Class A : Orphans"	13302	protein-coding gene	gene with protein product		606915					Standard	NM_030784		Approved	PSP24(beta), PSP24B	uc003pou.3	Q9BZJ6	OTTHUMG00000015245	ENST00000229955.3:c.932G>A	6.37:g.97246676C>T	ENSP00000229955:p.Arg311His					GPR63_ENST00000417980.1_Missense_Mutation_p.R311H	p.R311H	NM_001143957.2|NM_030784.3	NP_001137429.1|NP_110411.1	Q9BZJ6	GPR63_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0912)	2	1277	-		all_cancers(76;6.89e-05)|Acute lymphoblastic leukemia(125;7.02e-10)|all_hematologic(75;1.23e-06)|all_epithelial(107;0.0618)|Colorectal(196;0.0721)	311					Q9UJH3	Missense_Mutation	SNP	ENST00000229955.3	37	c.932G>A	CCDS5036.1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.354576	0.82243	.	.	ENSG00000112218	ENST00000536583;ENST00000417980;ENST00000229955;ENST00000369268	T;T;T	0.43688	0.94;0.94;0.94	5.2	5.2	0.72013	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.64505	0.2604	M	0.82823	2.61	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.69935	-0.5010	10	0.87932	D	0	-13.6236	19.0987	0.93265	0.0:1.0:0.0:0.0	.	311	Q9BZJ6	GPR63_HUMAN	H	335;311;311;311	ENSP00000393170:R311H;ENSP00000229955:R311H;ENSP00000358273:R311H	ENSP00000229955:R311H	R	-	2	0	GPR63	97353397	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.445000	0.80570	2.595000	0.87683	0.650000	0.86243	CGT		0.478	GPR63-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041566.2			14	24	0	0	0	1	0	14	24					T	97246676	C	T	97246676	3	4	435	1	0	0	0	0	1	0	0	0	6704	536	19	1	331	1	GPR63	6	97246676	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	195087	97246676	73868391	3272	24197											
GPR63	81491	broad.mit.edu	37	chr6	97246940	97246940	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cacactggggagctcgggaaGgtatctgcaggtcggggttt	7	9	17	8	2	1	0	0	0	1	0	3	2	1	2	0	7	2	4	0	7	2	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:97246940G>A	ENST00000229955.3	-	2	1013	c.668C>T	c.(667-669)cCt>cTt	p.P223L	GPR63_ENST00000417980.1_Missense_Mutation_p.P223L	NM_001143957.2|NM_030784.3	NP_001137429.1|NP_110411.1	Q9BZJ6	GPR63_HUMAN	G protein-coupled receptor 63	223						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	G-protein coupled receptor activity (GO:0004930)			kidney(1)|large_intestine(5)|lung(13)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_cancers(76;6.89e-05)|Acute lymphoblastic leukemia(125;7.02e-10)|all_hematologic(75;1.23e-06)|all_epithelial(107;0.0618)|Colorectal(196;0.0721)		BRCA - Breast invasive adenocarcinoma(108;0.0912)		AGCTCGGGAAGGTATCTGCAG	0.458																																						ENST00000229955.3																			0				kidney(1)|large_intestine(5)|lung(13)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						c.(667-669)cCt>cTt		G protein-coupled receptor 63							74	78	77					6																	97246940		2203	4300	6503	SO:0001583	missense	0					integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding	g.chr6:97246940G>A	AF317654	CCDS5036.1	6q16.1-q16.3	2012-08-21			ENSG00000112218	ENSG00000112218		"GPCR / Class A : Orphans"	13302	protein-coding gene	gene with protein product		606915					Standard	NM_030784		Approved	PSP24(beta), PSP24B	uc003pou.3	Q9BZJ6	OTTHUMG00000015245	ENST00000229955.3:c.668C>T	6.37:g.97246940G>A	ENSP00000229955:p.Pro223Leu					GPR63_ENST00000417980.1_Missense_Mutation_p.P223L	p.P223L	NM_001143957.2|NM_030784.3	NP_001137429.1|NP_110411.1	Q9BZJ6	GPR63_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0912)	2	1013	-		all_cancers(76;6.89e-05)|Acute lymphoblastic leukemia(125;7.02e-10)|all_hematologic(75;1.23e-06)|all_epithelial(107;0.0618)|Colorectal(196;0.0721)	223					Q9UJH3	Missense_Mutation	SNP	ENST00000229955.3	37	c.668C>T	CCDS5036.1	.	.	.	.	.	.	.	.	.	.	G	16.99	3.272901	0.59649	.	.	ENSG00000112218	ENST00000536583;ENST00000417980;ENST00000229955;ENST00000369268	T;T;T	0.72282	-0.64;-0.64;-0.64	5.2	4.34	0.51931	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.72203	0.3431	M	0.78801	2.425	0.80722	D	1	P	0.40211	0.707	P	0.49561	0.615	T	0.77472	-0.2575	10	0.72032	D	0.01	-4.1469	14.0228	0.64568	0.0735:0.0:0.9265:0.0	.	223	Q9BZJ6	GPR63_HUMAN	L	247;223;223;223	ENSP00000393170:P223L;ENSP00000229955:P223L;ENSP00000358273:P223L	ENSP00000229955:P223L	P	-	2	0	GPR63	97353661	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.420000	0.97426	1.340000	0.45581	-0.142000	0.14014	CCT		0.458	GPR63-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041566.2			15	61	0	0	0	1	0	15	61					A	97246940	G	A	97246940	3	1	435	1	0	0	0	0	1	0	0	0	6704	1000	35	3	595	3	GPR63	6	97246940	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	264	97246940	73868127	3273	24198											
KLHL32	114792	broad.mit.edu	37	chr6	97587107	97587107	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ccagctccatattttacatgCcctaaccttcaaactcttca	11	13	2	15	0	3	0	2	0	1	0	4	0	4	0	4	0	5	1	4	0	4	6			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:97587107C>T	ENST00000369261.4	+	11	2175	c.1812C>T	c.(1810-1812)tgC>tgT	p.C604C	KLHL32_ENST00000539200.1_Silent_p.C535C|KLHL32_ENST00000544166.1_Silent_p.C160C|KLHL32_ENST00000536676.1_Silent_p.C568C	NM_052904.3	NP_443136.2	Q96NJ5	KLH32_HUMAN	kelch-like family member 32	604										breast(2)|endometrium(3)|kidney(4)|large_intestine(9)|lung(13)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	38		all_cancers(76;1.19e-06)|Acute lymphoblastic leukemia(125;5.83e-10)|all_hematologic(75;3.67e-07)|all_epithelial(107;0.00778)|Colorectal(196;0.122)		BRCA - Breast invasive adenocarcinoma(108;0.0558)		ATTTTACATGCCCTAACCTTC	0.448																																						ENST00000369261.4																			0				breast(2)|endometrium(3)|kidney(4)|large_intestine(9)|lung(13)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	38						c.(1810-1812)tgC>tgT		kelch-like family member 32							206	166	180					6																	97587107		2203	4300	6503	SO:0001819	synonymous_variant	114792							g.chr6:97587107C>T	AB067487	CCDS5038.1, CCDS69154.1, CCDS69155.1, CCDS75495.1	6q16.3	2013-02-22	2013-02-22	2007-01-09	ENSG00000186231	ENSG00000186231		"Kelch-like", "BTB/POZ domain containing"	21221	protein-coding gene	gene with protein product			"BTB and kelch domain containing 5", "KIAA1900", "kelch-like 32 (Drosophila)"	BKLHD5, KIAA1900			Standard	NM_052904		Approved		uc010kcm.1	Q96NJ5	OTTHUMG00000015247	ENST00000369261.4:c.1812C>T	6.37:g.97587107C>T						KLHL32_ENST00000539200.1_Silent_p.C535C|KLHL32_ENST00000544166.1_Silent_p.C160C|KLHL32_ENST00000536676.1_Silent_p.C568C	p.C604C	NM_052904.3	NP_443136.2	Q96NJ5	KLH32_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0558)	11	2175	+		all_cancers(76;1.19e-06)|Acute lymphoblastic leukemia(125;5.83e-10)|all_hematologic(75;3.67e-07)|all_epithelial(107;0.00778)|Colorectal(196;0.122)	604					B7Z346|B7Z4E2|E1P528|Q5THT0|Q96PY7	Silent	SNP	ENST00000369261.4	37	c.1812C>T	CCDS5038.1																																																																																				0.448	KLHL32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041570.1	NM_052904		31	45	0	0	0	1	0	31	45					T	97587107	C	T	97587107	2	4	435	1	0	0	0	0	0	0	0	1	8386	747	26	3		3	KLHL32	6	97587107	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	340167	97587107	73527960	3274	24199											
C6orf167	253714	broad.mit.edu	37	chr6	97613176	97613176	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atattggtggaatagtggctGtgtttctcaatgccagcaaa	11	13	11	6	0	1	0	1	0	1	0	2	1	1	1	1	3	2	3	1	3	5	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:97613176G>A	ENST00000275053.4	-	21	3432	c.3167C>T	c.(3166-3168)aCa>aTa	p.T1056I	MMS22L_ENST00000369251.2_Missense_Mutation_p.T1016I	NM_198468.2	NP_940870.2	Q6ZRQ5	MMS22_HUMAN	MMS22-like, DNA repair protein	1056					double-strand break repair via homologous recombination (GO:0000724)|replication fork processing (GO:0031297)	nuclear replication fork (GO:0043596)				breast(1)|endometrium(9)|kidney(2)|large_intestine(12)|lung(20)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	50						AATAGTGGCTGTGTTTCTCAA	0.363																																						ENST00000275053.4																			0				breast(1)|endometrium(9)|kidney(2)|large_intestine(12)|lung(20)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	50						c.(3166-3168)aCa>aTa		MMS22-like, DNA repair protein							106	107	106					6																	97613176		2203	4300	6503	SO:0001583	missense	253714				double-strand break repair via homologous recombination|replication fork processing	nuclear replication fork	protein binding	g.chr6:97613176G>A		CCDS5039.1	6q16.3	2010-11-11	2010-11-11	2010-11-11	ENSG00000146263	ENSG00000146263			21475	protein-coding gene	gene with protein product		615614	"chromosome 6 open reading frame 167"	C6orf167		21055983, 21055984	Standard	NM_198468		Approved	dJ39B17.2	uc003ppb.3	Q6ZRQ5	OTTHUMG00000015248	ENST00000275053.4:c.3167C>T	6.37:g.97613176G>A	ENSP00000275053:p.Thr1056Ile					MMS22L_ENST00000369251.2_Missense_Mutation_p.T1016I	p.T1056I	NM_198468.2	NP_940870.2	Q6ZRQ5	MMS22_HUMAN			21	3432	-			1056					D6R9Y8|D6RBQ4|E1P529|Q5THT2|Q68CQ6|Q68D32	Missense_Mutation	SNP	ENST00000275053.4	37	c.3167C>T	CCDS5039.1	.	.	.	.	.	.	.	.	.	.	G	15.76	2.927676	0.52759	.	.	ENSG00000146263	ENST00000275053;ENST00000369251	T;T	0.25749	4.03;1.78	5.79	5.79	0.91817	.	0.494787	0.22440	N	0.060029	T	0.11665	0.0284	N	0.14661	0.345	0.30443	N	0.775993	B;B	0.30973	0.302;0.302	B;B	0.34779	0.189;0.099	T	0.19451	-1.0305	10	0.62326	D	0.03	-18.5382	20.0371	0.97565	0.0:0.0:1.0:0.0	.	1016;1056	E2QRD4;Q6ZRQ5	.;MMS22_HUMAN	I	1056;1016	ENSP00000275053:T1056I;ENSP00000358254:T1016I	ENSP00000275053:T1056I	T	-	2	0	MMS22L	97719897	0.998000	0.40836	0.954000	0.39281	0.601000	0.36947	4.936000	0.63506	2.734000	0.93682	0.655000	0.94253	ACA		0.363	MMS22L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041573.3	NM_198468		28	32	0	0	0	1	0	28	32					A	97613176	G	A	97613176	3	1	435	1	0	0	0	0	1	0	0	0	2342	1377	48	3	584	3	C6orf167	6	97613176	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	26069	97613176	73501891	3275	24200											
SFRS18	25957	broad.mit.edu	37	chr6	99849499	99849499	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtaaccctttctgtttgctgCttttcttctgaaacagaaaa	10	16	6	9	0	3	2	0	1	3	1	3	2	3	2	1	0	4	4	1	0	4	6			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:99849499C>T	ENST00000369239.5	-	12	1539	c.1335G>A	c.(1333-1335)aaG>aaA	p.K445K	PNISR_ENST00000438806.1_Silent_p.K445K	NM_032870.2	NP_116259.2	Q8TF01	PNISR_HUMAN	PNN-interacting serine/arginine-rich protein	445						cytoplasm (GO:0005737)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(2)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24						CTGTTTGCTGCTTTTCTTCTG	0.338																																						ENST00000369239.5																			0				breast(2)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24						c.(1333-1335)aaG>aaA		PNN-interacting serine/arginine-rich protein							47	48	47					6																	99849499		2203	4300	6503	SO:0001819	synonymous_variant	25957					nuclear speck		g.chr6:99849499C>T	AK027759	CCDS5043.1	6q16.3	2011-06-06	2011-06-06	2011-06-06	ENSG00000132424	ENSG00000132424			21222	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 111", "splicing factor, arginine/serine-rich 18"	C6orf111, SFRS18		14578391	Standard	NM_032870		Approved	FLJ14752, bA98I9.2, DKFZp564B0769, SRrp130	uc021zdd.1	Q8TF01	OTTHUMG00000015262	ENST00000369239.5:c.1335G>A	6.37:g.99849499C>T						PNISR_ENST00000438806.1_Silent_p.K445K	p.K445K	NM_032870.2	NP_116259.2	Q8TF01	PNISR_HUMAN			12	1539	-			445					A8K540|E1P5D2|Q5T064|Q5T065|Q6P2B4|Q6P2N4|Q6PJ93|Q6PK36|Q7Z640|Q8N2L1|Q8TF00|Q96K10|Q96SI3|Q96SM5|Q9P076|Q9P0C0|Q9Y4N3	Silent	SNP	ENST00000369239.5	37	c.1335G>A	CCDS5043.1																																																																																				0.338	PNISR-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041598.1	NM_032870		8	26	0	0	0	1	0	8	26					T	99849499	C	T	99849499	2	4	435	1	0	0	0	0	0	0	0	1	14174	796	28	3		3	SFRS18	6	99849499	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	2236323	99849499	71265568	3276	24201											
SIM1	6492	broad.mit.edu	37	chr6	100895199	100895199	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cctggaggagcgactgttgtGcacgatggtcgcgtagctct	6	10	15	10	4	1	0	0	0	1	0	2	4	1	2	1	3	3	4	1	3	1	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:100895199G>A	ENST00000369208.3	-	9	1725	c.943C>T	c.(943-945)Cac>Tac	p.H315Y	SIM1_ENST00000262901.4_Missense_Mutation_p.H315Y			P81133	SIM1_HUMAN	single-minded family bHLH transcription factor 1	315	PAC.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)|ureteric bud development (GO:0001657)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	79		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0774)		CGACTGTTGTGCACGATGGTC	0.597																																						ENST00000369208.3																			0				breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	79						c.(943-945)Cac>Tac		single-minded family bHLH transcription factor 1							166	123	137					6																	100895199		2203	4300	6503	SO:0001583	missense	6492				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr6:100895199G>A	U70212	CCDS5045.1	6q16.3	2013-10-17	2013-10-17		ENSG00000112246	ENSG00000112246		"Basic helix-loop-helix proteins"	10882	protein-coding gene	gene with protein product		603128	"single-minded (Drosophila) homolog 1", "single-minded homolog 1 (Drosophila)"			9199934, 11448938	Standard	NM_005068		Approved	bHLHe14	uc003pqj.4	P81133	OTTHUMG00000015275	ENST00000369208.3:c.943C>T	6.37:g.100895199G>A	ENSP00000358210:p.His315Tyr					SIM1_ENST00000262901.4_Missense_Mutation_p.H315Y	p.H315Y			P81133	SIM1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0774)	9	1725	-		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)	315			PAC.		Q5TDP7	Missense_Mutation	SNP	ENST00000369208.3	37	c.943C>T	CCDS5045.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.169122	0.78339	.	.	ENSG00000112246	ENST00000369208;ENST00000262901	T;T	0.15372	2.43;2.43	6.17	6.17	0.99709	PAS fold-3 (1);	0.000000	0.85682	D	0.000000	T	0.14570	0.0352	L	0.28344	0.845	0.80722	D	1	P	0.51240	0.943	P	0.53722	0.733	T	0.04320	-1.0960	10	0.17832	T	0.49	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	315	P81133	SIM1_HUMAN	Y	315	ENSP00000358210:H315Y;ENSP00000262901:H315Y	ENSP00000262901:H315Y	H	-	1	0	SIM1	101001920	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.062000	0.89475	2.941000	0.99782	0.655000	0.94253	CAC		0.597	SIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041628.3	NM_005068		6	28	0	0	0	1	0	6	28					A	100895199	G	A	100895199	3	1	435	1	0	0	0	0	1	0	0	0	14323	1319	46	3	1373	3	SIM1	6	100895199	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	1045700	100895199	70219868	3277	24202											
HACE1	57531	broad.mit.edu	37	chr6	105231961	105231961	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agatgaagaaaaatttctacCtgtgcttttatgatatgcat	14	15	7	5	0	1	4	0	2	1	2	1	4	1	4	1	0	3	2	1	0	6	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:105231961C>A	ENST00000262903.4	-	14	1842	c.1566G>T	c.(1564-1566)caG>caT	p.Q522H	HACE1_ENST00000517995.1_5'Flank|HACE1_ENST00000369125.2_Splice_Site_p.Q522H	NM_020771.3	NP_065822.2	Q8IYU2	HACE1_HUMAN	HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1	522					cell cycle (GO:0007049)|Golgi organization (GO:0007030)|membrane fusion (GO:0061025)|protein K48-linked ubiquitination (GO:0070936)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|Rac protein signal transduction (GO:0016601)|regulation of cell migration (GO:0030334)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	endoplasmic reticulum (GO:0005783)|Golgi membrane (GO:0000139)|nucleus (GO:0005634)	ligase activity (GO:0016874)|Rab GTPase binding (GO:0017137)|Rac GTPase binding (GO:0048365)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	44		all_cancers(87;6.89e-05)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0216)|Colorectal(196;0.202)		BRCA - Breast invasive adenocarcinoma(108;0.122)|Epithelial(106;0.204)		AAATTTCTACCTGTGCTTTTA	0.269																																						ENST00000262903.4																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	44						c.e14+1		HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1							38	41	40					6																	105231961		2191	4273	6464	SO:0001630	splice_region_variant	57531				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	endoplasmic reticulum	ubiquitin-protein ligase activity	g.chr6:105231961C>A	BC034982	CCDS5050.1	6q21	2013-01-10	2012-02-23		ENSG00000085382	ENSG00000085382		"Ankyrin repeat domain containing"	21033	protein-coding gene	gene with protein product		610876				10718198	Standard	NM_020771		Approved	KIAA1320	uc003pqu.1	Q8IYU2	OTTHUMG00000015287	ENST00000262903.4:c.1566+1G>T	6.37:g.105231961C>A						HACE1_ENST00000369125.2_Splice_Site_p.Q522_splice	p.Q522_splice	NM_020771.3	NP_065822.2	Q8IYU2	HACE1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.122)|Epithelial(106;0.204)	14	1842	-		all_cancers(87;6.89e-05)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0216)|Colorectal(196;0.202)	522					A8K6U5|B3KY89|B4DFM6|B4DTQ4|B7Z9X6|E9PGP0|Q5VU99|Q5VUA0|Q8ND12|Q9P2M6	Splice_Site	SNP	ENST00000262903.4	37	c.1566_splice	CCDS5050.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	23.2|23.2	4.385698|4.385698	0.82792|0.82792	.|.	.|.	ENSG00000085382|ENSG00000085382	ENST00000518503|ENST00000262903;ENST00000369125	.|T;T	.|0.41758	.|1.1;0.99	5.37|5.37	5.37|5.37	0.77165|0.77165	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.42562|0.42562	0.1208|0.1208	L|L	0.47190|0.47190	1.495|1.495	0.80722|0.80722	D|D	1|1	.|P;P;D	.|0.53151	.|0.707;0.93;0.958	.|B;P;P	.|0.58873	.|0.343;0.707;0.847	T|T	0.13791|0.13791	-1.0496|-1.0496	5|9	.|.	.|.	.|.	.|.	13.7538|13.7538	0.62923|0.62923	0.0:0.9257:0.0:0.0743|0.0:0.9257:0.0:0.0743	.|.	.|522;522;175	.|E9PGP0;Q8IYU2;Q8IYU2-3	.|.;HACE1_HUMAN;.	S|H	5|522	.|ENSP00000262903:Q522H;ENSP00000358121:Q522H	.|.	A|Q	-|-	1|3	0|2	HACE1|HACE1	105338654|105338654	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.978000|0.978000	0.69477|0.69477	4.577000|4.577000	0.60922|0.60922	2.676000|2.676000	0.91093|0.91093	0.484000|0.484000	0.47621|0.47621	GCC|CAG		0.269	HACE1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041643.2	XM_045095	Missense_Mutation	7	19	1	0	0.000157383	1	0.000161063	7	19					A	105231961	C	A	105231961	5	1	435	1	0	0	0	0	0	0	1	0	6940	695	24	5	1207	5	HACE1	6	105231961	Splice_Site	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	4336762	105231961	65883106	3278	24203											
PREP	5550	broad.mit.edu	37	chr6	105781268	105781268	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgaagtcaatgttgatcacGcgatagttgggagactggcg	10	10	14	7	3	2	3	2	2	0	1	2	5	2	3	0	2	0	2	0	2	3	3	rs147800201		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:105781268G>A	ENST00000369110.3	-	8	1128	c.936C>T	c.(934-936)cgC>cgT	p.R312R		NM_002726.4	NP_002717.3	P48147	PPCE_HUMAN	prolyl endopeptidase	312					proteolysis (GO:0006508)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	serine-type endopeptidase activity (GO:0004252)|serine-type exopeptidase activity (GO:0070008)|serine-type peptidase activity (GO:0008236)			breast(1)|endometrium(2)|large_intestine(7)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29		all_cancers(87;0.000128)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0344)|Lung NSC(302;0.191)|Colorectal(196;0.202)			Oxytocin(DB00107)	TGTTGATCACGCGATAGTTGG	0.448																																						ENST00000369110.3																			0				breast(1)|endometrium(2)|large_intestine(7)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29						c.(934-936)cgC>cgT		prolyl endopeptidase	Oxytocin(DB00107)	G		1,4405	2.1+/-5.4	0,1,2202	252	204	220		936	0.9	1	6	dbSNP_134	220	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	PREP	NM_002726.4		0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154		312/711	105781268	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	5550				proteolysis		serine-type endopeptidase activity	g.chr6:105781268G>A		CCDS5053.1	6q22	2008-02-05			ENSG00000085377	ENSG00000085377	3.4.21.26		9358	protein-coding gene	gene with protein product		600400				7959018	Standard	NM_002726		Approved		uc003prc.3	P48147	OTTHUMG00000015297	ENST00000369110.3:c.936C>T	6.37:g.105781268G>A							p.R312R	NM_002726.4	NP_002717.3	P48147	PPCE_HUMAN			8	1128	-		all_cancers(87;0.000128)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0344)|Lung NSC(302;0.191)|Colorectal(196;0.202)	312					Q8N6D4	Silent	SNP	ENST00000369110.3	37	c.936C>T	CCDS5053.1																																																																																				0.448	PREP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041658.1			5	101	0	0	0	1	0	5	101					A	105781268	G	A	105781268	2	1	435	1	0	0	0	0	0	0	0	1	12474	1074	38	1		1	PREP	6	105781268	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	549307	105781268	65333799	3279	24204											
ATG5	9474	broad.mit.edu	37	chr6	106727655	106727655	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acataaaatgagcttcaattGcatccttagatggacagtgc	14	11	8	8	0	1	2	1	1	0	1	2	3	2	3	1	1	3	2	1	1	4	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:106727655G>A	ENST00000369076.3	-	5	682	c.359C>T	c.(358-360)gCa>gTa	p.A120V	ATG5_ENST00000343245.3_Missense_Mutation_p.A120V|ATG5_ENST00000360666.4_Intron|ATG5_ENST00000369070.1_Missense_Mutation_p.A42V	NM_004849.2	NP_004840.1	Q9H1Y0	ATG5_HUMAN	autophagy related 5	120					apoptotic process (GO:0006915)|autophagic vacuole assembly (GO:0000045)|autophagy (GO:0006914)|blood vessel remodeling (GO:0001974)|heart contraction (GO:0060047)|innate immune response (GO:0045087)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of type I interferon production (GO:0032480)|negative stranded viral RNA replication (GO:0039689)|otolith development (GO:0048840)|post-translational protein modification (GO:0043687)|regulation of cilium assembly (GO:1902017)|regulation of cytokine secretion involved in immune response (GO:0002739)|response to drug (GO:0042493)|response to fungus (GO:0009620)|vasodilation (GO:0042311)|ventricular cardiac muscle cell development (GO:0055015)	autophagic vacuole (GO:0005776)|axoneme (GO:0005930)|cytoplasm (GO:0005737)|membrane (GO:0016020)|pre-autophagosomal structure membrane (GO:0034045)				endometrium(1)|large_intestine(5)|lung(1)|prostate(1)	8	Breast(9;0.0296)	all_cancers(87;0.000301)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.0612)|Lung NSC(302;0.216)	BRCA - Breast invasive adenocarcinoma(8;0.00802)	OV - Ovarian serous cystadenocarcinoma(136;0.128)|Epithelial(106;0.159)|all cancers(137;0.18)		AGCTTCAATTGCATCCTTAGA	0.313																																						ENST00000369076.3																			0				endometrium(1)|large_intestine(5)|lung(1)|prostate(1)	8						c.(358-360)gCa>gTa		autophagy related 5							100	95	97					6																	106727655		2203	4299	6502	SO:0001583	missense	9474				apoptosis|autophagic vacuole assembly|negative regulation of type I interferon production|post-translational protein modification	autophagic vacuole|pre-autophagosomal structure membrane	protein binding	g.chr6:106727655G>A	Y11588	CCDS5055.1, CCDS69159.1, CCDS75498.1	6q21	2014-02-12	2012-06-06	2005-09-11	ENSG00000057663	ENSG00000057663			589	protein-coding gene	gene with protein product		604261	"APG5 (autophagy 5, S. cerevisiae)-like", "APG5 autophagy 5-like (S. cerevisiae)", "ATG5 autophagy related 5 homolog (S. cerevisiae)"	APG5L		9563500, 11349150, 15778222	Standard	NM_001286111		Approved	ASP, APG5, hAPG5	uc003prf.3	Q9H1Y0	OTTHUMG00000016193	ENST00000369076.3:c.359C>T	6.37:g.106727655G>A	ENSP00000358072:p.Ala120Val					ATG5_ENST00000369070.1_Missense_Mutation_p.A42V|ATG5_ENST00000343245.3_Missense_Mutation_p.A120V|ATG5_ENST00000360666.4_Intron	p.A120V	NM_004849.2	NP_004840.1	Q9H1Y0	ATG5_HUMAN	BRCA - Breast invasive adenocarcinoma(8;0.00802)	OV - Ovarian serous cystadenocarcinoma(136;0.128)|Epithelial(106;0.159)|all cancers(137;0.18)	5	682	-	Breast(9;0.0296)	all_cancers(87;0.000301)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.0612)|Lung NSC(302;0.216)	120					O60875|Q5JVR2|Q68DI4|Q9H2B8|Q9HCZ7	Missense_Mutation	SNP	ENST00000369076.3	37	c.359C>T	CCDS5055.1	.	.	.	.	.	.	.	.	.	.	G	4.988	0.183553	0.09495	.	.	ENSG00000057663	ENST00000369076;ENST00000343245;ENST00000369070	.	.	.	6.07	4.2	0.49525	.	0.332623	0.34802	N	0.003679	T	0.10252	0.0251	N	0.03281	-0.365	0.80722	D	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.09377	0.004;0.002;0.004	T	0.13308	-1.0514	9	0.17832	T	0.49	-39.0717	6.8641	0.24084	0.4259:0.0:0.5741:0.0	.	120;42;120	A9UGY9;Q9H1Y0-2;Q9H1Y0	.;.;ATG5_HUMAN	V	120;120;42	.	ENSP00000343313:A120V	A	-	2	0	ATG5	106834348	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	4.066000	0.57520	0.792000	0.33850	-0.345000	0.07892	GCA		0.313	ATG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043476.1	NM_004849		19	64	0	0	0	1	0	19	64					A	106727655	G	A	106727655	3	1	435	1	0	0	0	0	1	0	0	0	1100	1319	46	3	484	3	ATG5	6	106727655	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	946387	106727655	64387412	3280	24205											
AIM1	202	broad.mit.edu	37	chr6	106960748	106960748	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgccggagatcaagcccgagCacaagaggggcccgctcccc	9	3	13	16	3	1	2	1	0	0	2	2	4	2	2	5	3	3	2	5	3	2	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:106960748C>T	ENST00000369066.3	+	1	1019	c.532C>T	c.(532-534)Cac>Tac	p.H178Y		NM_001624.2	NP_001615	Q9UMX9	S45A2_HUMAN	absent in melanoma 1	0					developmental pigmentation (GO:0048066)|melanin biosynthetic process (GO:0042438)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)				breast(8)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(7)|large_intestine(13)|lung(20)|ovary(5)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	69	Breast(9;0.0138)|all_epithelial(6;0.169)	all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473)	Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305)	all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858)		CAAGCCCGAGCACAAGAGGGG	0.716																																						ENST00000369066.3																			0				breast(8)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(7)|large_intestine(13)|lung(20)|ovary(5)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	69						c.(532-534)Cac>Tac		absent in melanoma 1							10	14	13					6																	106960748		2153	4266	6419	SO:0001583	missense	202						sugar binding	g.chr6:106960748C>T	U83115	CCDS34506.1	6q21	2014-01-29			ENSG00000112297	ENSG00000112297			356	protein-coding gene	gene with protein product	"suppression of tumorigenicity 4", "beta-gamma crystallin domain containing 1"	601797	"suppression of tumorigenicity 4 (malignant melanoma)"	ST4		1680551, 12693952	Standard	NM_001624		Approved	CRYBG1	uc003prh.3	Q9Y4K1	OTTHUMG00000015302	ENST00000369066.3:c.532C>T	6.37:g.106960748C>T	ENSP00000358062:p.His178Tyr						p.H178Y	NM_001624.2	NP_001615.1	Q9Y4K1	AIM1_HUMAN	Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305)	all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858)	1	1019	+	Breast(9;0.0138)|all_epithelial(6;0.169)	all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473)	178					Q6P2P0|Q9BTM3	Missense_Mutation	SNP	ENST00000369066.3	37	c.532C>T	CCDS34506.1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.401192	0.83120	.	.	ENSG00000112297	ENST00000285105;ENST00000369066	T	0.73363	-0.74	4.96	4.96	0.65561	.	1.022140	0.07863	N	0.966731	T	0.59376	0.2189	L	0.59436	1.845	0.80722	D	1	P	0.40211	0.707	B	0.34991	0.193	T	0.56980	-0.7889	10	0.23302	T	0.38	.	15.3619	0.74483	0.0:1.0:0.0:0.0	.	178	Q9Y4K1	AIM1_HUMAN	Y	586;178	ENSP00000358062:H178Y	ENSP00000285105:H586Y	H	+	1	0	AIM1	107067441	1.000000	0.71417	0.999000	0.59377	0.980000	0.70556	0.818000	0.27295	2.295000	0.77249	0.561000	0.74099	CAC		0.716	AIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041669.1			3	3	0	0	0	1	0	3	3					T	106960748	C	T	106960748	3	4	435	1	0	0	0	0	1	0	0	0	430	710	25	3	534	3	AIM1	6	106960748	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	233093	106960748	64154319	3281	24206											
SOBP	55084	broad.mit.edu	37	chr6	107854672	107854672	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttattatagaagatgatgTgtcaaatgtacaaataatgt	16	16	7	2	0	1	3	1	1	0	2	1	3	1	3	0	0	1	1	0	0	8	6			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:107854672T>G	ENST00000317357.5	+	4	1090	c.431T>G	c.(430-432)gTg>gGg	p.V144G		NM_018013.3	NP_060483.3			sine oculis binding protein homolog (Drosophila)											endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	26		all_cancers(87;5.26e-06)|Acute lymphoblastic leukemia(125;2.87e-08)|all_hematologic(75;1.14e-06)|all_epithelial(87;0.00193)|Colorectal(196;0.156)		BRCA - Breast invasive adenocarcinoma(108;0.026)|all cancers(137;0.087)|Epithelial(106;0.104)|OV - Ovarian serous cystadenocarcinoma(136;0.154)		GAAGATGATGTGTCAAATGTA	0.418																																						ENST00000317357.5																			0				endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	26						c.(430-432)gTg>gGg		sine oculis binding protein homolog (Drosophila)							82	85	84					6																	107854672		1884	4106	5990	SO:0001583	missense	55084						metal ion binding	g.chr6:107854672T>G	AK001021	CCDS43488.1	6q21	2007-03-15			ENSG00000112320	ENSG00000112320			29256	protein-coding gene	gene with protein product		613667					Standard	NM_018013		Approved	FLJ10159	uc003prx.3	A7XYQ1	OTTHUMG00000015312	ENST00000317357.5:c.431T>G	6.37:g.107854672T>G	ENSP00000318900:p.Val144Gly						p.V144G	NM_018013.3	NP_060483.3	A7XYQ1	SOBP_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.026)|all cancers(137;0.087)|Epithelial(106;0.104)|OV - Ovarian serous cystadenocarcinoma(136;0.154)	4	1090	+		all_cancers(87;5.26e-06)|Acute lymphoblastic leukemia(125;2.87e-08)|all_hematologic(75;1.14e-06)|all_epithelial(87;0.00193)|Colorectal(196;0.156)	144						Missense_Mutation	SNP	ENST00000317357.5	37	c.431T>G	CCDS43488.1	.	.	.	.	.	.	.	.	.	.	T	20.3	3.971580	0.74246	.	.	ENSG00000112320	ENST00000317357	T	0.16743	2.32	5.46	5.46	0.80206	.	0.073240	0.53938	D	0.000050	T	0.06462	0.0166	N	0.24115	0.695	0.80722	D	1	P	0.46859	0.885	B	0.39805	0.31	T	0.24440	-1.0160	10	0.34782	T	0.22	-11.8123	15.5149	0.75815	0.0:0.0:0.0:1.0	.	144	A7XYQ1	SOBP_HUMAN	G	144	ENSP00000318900:V144G	ENSP00000318900:V144G	V	+	2	0	SOBP	107961365	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.020000	0.49643	2.068000	0.61886	0.383000	0.25322	GTG		0.418	SOBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041693.2	NM_018013		24	42	0	0	0	1	0	24	42					G	107854672	T	G	107854672	3	3	435	1	0	0	0	0	1	0	0	0	14912	1696	59	5	445	5	SOBP	6	107854672	Missense_Mutation	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	893924	107854672	63260395	3282	24207											
SEC63	11231	broad.mit.edu	37	chr6	108214837	108214837	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gttgccatcctccttttgtcCtgttcttgttagtttcaccc	3	19	6	13	0	2	0	1	0	1	0	5	0	5	0	5	0	1	4	5	0	1	7			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:108214837C>A	ENST00000369002.4	-	16	1702	c.1523G>T	c.(1522-1524)aGg>aTg	p.R508M		NM_007214.4	NP_009145.1	Q9UGP8	SEC63_HUMAN	SEC63 homolog (S. cerevisiae)	508	SEC63 1.				liver development (GO:0001889)|multicellular organismal aging (GO:0010259)|nitrogen compound metabolic process (GO:0006807)|posttranslational protein targeting to membrane (GO:0006620)|posttranslational protein targeting to membrane, translocation (GO:0031204)|protein targeting to membrane (GO:0006612)|renal system development (GO:0072001)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|protein transporter activity (GO:0008565)|receptor activity (GO:0004872)			endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		all_cancers(87;5.35e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00225)|Colorectal(196;0.0294)		BRCA - Breast invasive adenocarcinoma(108;0.0079)|Epithelial(106;0.0356)|all cancers(137;0.0525)|OV - Ovarian serous cystadenocarcinoma(136;0.054)		TCCTTTTGTCCTGTTCTTGTT	0.348																																						ENST00000369002.4																			0				endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(1522-1524)aGg>aTg		SEC63 homolog (S. cerevisiae)							164	166	165					6																	108214837		2203	4300	6503	SO:0001583	missense	11231				protein folding|protein targeting to membrane	endoplasmic reticulum membrane|integral to membrane	heat shock protein binding|receptor activity|unfolded protein binding	g.chr6:108214837C>A	BC048287	CCDS5061.1	6q21	2011-09-05	2006-09-12		ENSG00000025796	ENSG00000025796		"Heat shock proteins / DNAJ (HSP40)"	21082	protein-coding gene	gene with protein product		608648	"SEC63-like (S. cerevisiae)"			10219736, 10543453	Standard	NM_007214		Approved	SEC63L, PRO2507, ERdj2, DNAJC23	uc003psc.4	Q9UGP8	OTTHUMG00000015316	ENST00000369002.4:c.1523G>T	6.37:g.108214837C>A	ENSP00000357998:p.Arg508Met						p.R508M	NM_007214.4	NP_009145.1	Q9UGP8	SEC63_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0079)|Epithelial(106;0.0356)|all cancers(137;0.0525)|OV - Ovarian serous cystadenocarcinoma(136;0.054)	16	1702	-		all_cancers(87;5.35e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00225)|Colorectal(196;0.0294)	508			SEC63 1.		O95380|Q5THN4|Q86VS9|Q8IWL0|Q9NTE0	Missense_Mutation	SNP	ENST00000369002.4	37	c.1523G>T	CCDS5061.1	.	.	.	.	.	.	.	.	.	.	C	15.26	2.780371	0.49891	.	.	ENSG00000025796	ENST00000369002;ENST00000437345;ENST00000423697	T	0.63255	-0.03	5.38	-0.843	0.10744	Sec63 domain (2);	0.183650	0.64402	D	0.000018	T	0.27098	0.0664	N	0.08118	0	0.32663	N	0.51787	P;P	0.38677	0.5;0.642	B;P	0.45343	0.42;0.477	T	0.19451	-1.0305	10	0.48119	T	0.1	-6.2127	9.4482	0.38710	0.0:0.2325:0.0:0.7675	.	508;508	Q9UGP8;B3KQF0	SEC63_HUMAN;.	M	508;159;368	ENSP00000357998:R508M	ENSP00000357998:R508M	R	-	2	0	SEC63	108321530	1.000000	0.71417	0.862000	0.33874	0.975000	0.68041	0.842000	0.27627	-0.008000	0.14320	0.563000	0.77884	AGG		0.348	SEC63-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041705.4	NM_007214		6	115	1	0	1.12685e-05	1	1.16601e-05	6	115					A	108214837	C	A	108214837	3	1	435	1	0	0	0	0	1	0	0	0	14005	681	24	5	783	5	SEC63	6	108214837	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	360165	108214837	62900230	3283	24208											
SEC63	11231	broad.mit.edu	37	chr6	108243079	108243079	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gatatttaagtgacagcaaaCgatattgttttttaatttct	13	18	6	4	1	1	1	0	1	1	0	1	3	1	1	0	0	2	2	0	0	5	9			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:108243079C>T	ENST00000369002.4	-	4	553	c.374G>A	c.(373-375)cGt>cAt	p.R125H		NM_007214.4	NP_009145.1	Q9UGP8	SEC63_HUMAN	SEC63 homolog (S. cerevisiae)	125	J. {ECO:0000255|PROSITE- ProRule:PRU00286}.				liver development (GO:0001889)|multicellular organismal aging (GO:0010259)|nitrogen compound metabolic process (GO:0006807)|posttranslational protein targeting to membrane (GO:0006620)|posttranslational protein targeting to membrane, translocation (GO:0031204)|protein targeting to membrane (GO:0006612)|renal system development (GO:0072001)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|protein transporter activity (GO:0008565)|receptor activity (GO:0004872)			endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		all_cancers(87;5.35e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00225)|Colorectal(196;0.0294)		BRCA - Breast invasive adenocarcinoma(108;0.0079)|Epithelial(106;0.0356)|all cancers(137;0.0525)|OV - Ovarian serous cystadenocarcinoma(136;0.054)		TGACAGCAAACGATATTGTTT	0.348																																						ENST00000369002.4																			0				endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(373-375)cGt>cAt		SEC63 homolog (S. cerevisiae)							196	175	182					6																	108243079		2202	4300	6502	SO:0001583	missense	11231				protein folding|protein targeting to membrane	endoplasmic reticulum membrane|integral to membrane	heat shock protein binding|receptor activity|unfolded protein binding	g.chr6:108243079C>T	BC048287	CCDS5061.1	6q21	2011-09-05	2006-09-12		ENSG00000025796	ENSG00000025796		"Heat shock proteins / DNAJ (HSP40)"	21082	protein-coding gene	gene with protein product		608648	"SEC63-like (S. cerevisiae)"			10219736, 10543453	Standard	NM_007214		Approved	SEC63L, PRO2507, ERdj2, DNAJC23	uc003psc.4	Q9UGP8	OTTHUMG00000015316	ENST00000369002.4:c.374G>A	6.37:g.108243079C>T	ENSP00000357998:p.Arg125His						p.R125H	NM_007214.4	NP_009145.1	Q9UGP8	SEC63_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0079)|Epithelial(106;0.0356)|all cancers(137;0.0525)|OV - Ovarian serous cystadenocarcinoma(136;0.054)	4	553	-		all_cancers(87;5.35e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00225)|Colorectal(196;0.0294)	125			J.		O95380|Q5THN4|Q86VS9|Q8IWL0|Q9NTE0	Missense_Mutation	SNP	ENST00000369002.4	37	c.374G>A	CCDS5061.1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.438681	0.83885	.	.	ENSG00000025796	ENST00000369002;ENST00000429168	T;T	0.40756	1.02;1.02	5.46	5.46	0.80206	Heat shock protein DnaJ, N-terminal (5);	0.053822	0.64402	D	0.000001	T	0.58793	0.2147	M	0.75264	2.295	0.58432	D	0.999999	D	0.71674	0.998	D	0.68483	0.958	T	0.63319	-0.6664	10	0.87932	D	0	-7.2868	17.4917	0.87705	0.0:1.0:0.0:0.0	.	125	Q9UGP8	SEC63_HUMAN	H	125;69	ENSP00000357998:R125H;ENSP00000403144:R69H	ENSP00000357998:R125H	R	-	2	0	SEC63	108349772	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.316000	0.51960	2.556000	0.86216	0.650000	0.86243	CGT		0.348	SEC63-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041705.4	NM_007214		19	33	0	0	0	1	0	19	33					T	108243079	C	T	108243079	3	4	435	1	0	0	0	0	1	0	0	0	14005	536	19	1	1980	1	SEC63	6	108243079	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	28242	108243079	62871988	3284	24209											
LACE1	246269	broad.mit.edu	37	chr6	108798484	108798484	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccgactgcacatttgaagagCtgtgtgagagagtaagtatc	12	10	12	7	1	0	4	0	2	0	2	1	6	0	4	1	0	2	4	1	0	3	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:108798484C>T	ENST00000368977.4	+	10	1237	c.1051C>T	c.(1051-1053)Ctg>Ttg	p.L351L		NM_145315.3	NP_660358.2	Q8WV93	LACE1_HUMAN	lactation elevated 1	351						mitochondrion (GO:0005739)	ATP binding (GO:0005524)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(4)|upper_aerodigestive_tract(1)	15		all_cancers(87;1.5e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;6.79e-05)|Colorectal(196;0.0294)|all_lung(197;0.0486)|Lung SC(18;0.152)		BRCA - Breast invasive adenocarcinoma(108;0.00179)|Epithelial(106;0.0024)|all cancers(137;0.00379)|OV - Ovarian serous cystadenocarcinoma(136;0.0118)		ATTTGAAGAGCTGTGTGAGAG	0.448																																						ENST00000368977.4																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(4)|upper_aerodigestive_tract(1)	15						c.(1051-1053)Ctg>Ttg		lactation elevated 1							100	97	98					6																	108798484		2203	4300	6503	SO:0001819	synonymous_variant	246269						ATP binding	g.chr6:108798484C>T	AF520418	CCDS5067.1	6q22.1	2006-11-10			ENSG00000135537	ENSG00000135537			16411	protein-coding gene	gene with protein product	"ATPase family gene 1 homolog (S. cerevisiae)"					12079282	Standard	XM_005266885		Approved	AFG1	uc003psj.3	Q8WV93	OTTHUMG00000015324	ENST00000368977.4:c.1051C>T	6.37:g.108798484C>T							p.L351L	NM_145315.3	NP_660358.2	Q8WV93	LACE1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.00179)|Epithelial(106;0.0024)|all cancers(137;0.00379)|OV - Ovarian serous cystadenocarcinoma(136;0.0118)	10	1237	+		all_cancers(87;1.5e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;6.79e-05)|Colorectal(196;0.0294)|all_lung(197;0.0486)|Lung SC(18;0.152)	351					Q8N6A3	Silent	SNP	ENST00000368977.4	37	c.1051C>T	CCDS5067.1																																																																																				0.448	LACE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041719.4	NM_145315		14	27	0	0	0	1	0	14	27					T	108798484	C	T	108798484	2	4	435	1	0	0	0	0	0	0	0	1	8595	796	28	3		3	LACE1	6	108798484	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	555405	108798484	62316583	3285	24210											
FOXO3	2309	broad.mit.edu	37	chr6	108984784	108984784	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcggaaaagccccccggcggCgggctgtctccatggacaat	8	5	14	14	4	1	0	0	0	1	0	2	2	1	2	4	5	1	1	4	5	3	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:108984784C>T	ENST00000343882.6	+	3	1052	c.748C>T	c.(748-750)Cgg>Tgg	p.R250W	FOXO3_ENST00000406360.1_Missense_Mutation_p.R250W|FOXO3_ENST00000540898.1_Missense_Mutation_p.R30W	NM_201559.2	NP_963853.1	O43524	FOXO3_HUMAN	forkhead box O3	250					antral ovarian follicle growth (GO:0001547)|cellular response to oxidative stress (GO:0034599)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose homeostasis (GO:0042593)|initiation of primordial ovarian follicle growth (GO:0001544)|innate immune response (GO:0045087)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neurotrophin TRK receptor signaling pathway (GO:0048011)|oocyte maturation (GO:0001556)|ovulation from ovarian follicle (GO:0001542)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of translation (GO:0006417)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|protein kinase binding (GO:0019901)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(5)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	26		all_cancers(87;1.78e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;3.88e-05)|Colorectal(196;0.0294)|all_lung(197;0.0487)|Lung SC(18;0.152)		Epithelial(106;0.000759)|all cancers(137;0.00121)|BRCA - Breast invasive adenocarcinoma(108;0.00163)|OV - Ovarian serous cystadenocarcinoma(136;0.00718)		CCCCCGGCGGCGGGCTGTCTC	0.592																																						ENST00000406360.1																			0				central_nervous_system(5)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	26						c.(748-750)Cgg>Tgg		forkhead box O3							14	17	16					6																	108984784		2193	4270	6463	SO:0001583	missense	2309				antral ovarian follicle growth|apoptosis|embryo development|glucose homeostasis|induction of apoptosis|initiation of primordial ovarian follicle growth|insulin receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|oocyte maturation|ovulation from ovarian follicle|pattern specification process|phosphatidylinositol-mediated signaling|positive regulation of erythrocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of cell proliferation|regulation of sequence-specific DNA binding transcription factor activity|tissue development	cytosol|transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein kinase binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding	g.chr6:108984784C>T	AF032886	CCDS5068.1	6q21	2008-09-08	2007-05-02	2007-05-02	ENSG00000118689	ENSG00000118689		"Forkhead boxes"	3821	protein-coding gene	gene with protein product		602681		FKHRL1, FOXO3A		9479491	Standard	NM_001455		Approved	AF6q21, FOXO2	uc003psm.2	O43524	OTTHUMG00000015327	ENST00000343882.6:c.748C>T	6.37:g.108984784C>T	ENSP00000339527:p.Arg250Trp					FOXO3_ENST00000540898.1_Missense_Mutation_p.R30W|FOXO3_ENST00000343882.6_Missense_Mutation_p.R250W	p.R250W	NM_001455.3	NP_001446.1	O43524	FOXO3_HUMAN		Epithelial(106;0.000759)|all cancers(137;0.00121)|BRCA - Breast invasive adenocarcinoma(108;0.00163)|OV - Ovarian serous cystadenocarcinoma(136;0.00718)	2	1091	+		all_cancers(87;1.78e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;3.88e-05)|Colorectal(196;0.0294)|all_lung(197;0.0487)|Lung SC(18;0.152)	250					B4DVZ6|E1P5E6|O15171|Q5T2I7|Q9BZ04	Missense_Mutation	SNP	ENST00000343882.6	37	c.748C>T	CCDS5068.1	.	.	.	.	.	.	.	.	.	.	C	15.70	2.911299	0.52439	.	.	ENSG00000118689	ENST00000343882;ENST00000406360;ENST00000540258;ENST00000540898	D;D	0.94687	-3.49;-3.49	5.74	2.51	0.30379	Transcription factor, fork head (1);	0.000000	0.85682	D	0.000000	D	0.97266	0.9106	M	0.91920	3.255	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98264	1.0500	10	0.87932	D	0	-5.5525	15.8761	0.79162	0.363:0.637:0.0:0.0	.	250	O43524	FOXO3_HUMAN	W	250;250;30;30	ENSP00000339527:R250W;ENSP00000385824:R250W	ENSP00000339527:R250W	R	+	1	2	FOXO3	109091477	1.000000	0.71417	1.000000	0.80357	0.738000	0.42128	3.727000	0.54984	0.693000	0.31634	0.561000	0.74099	CGG		0.592	FOXO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041722.2			6	24	0	0	0	1	0	6	24					T	108984784	C	T	108984784	3	4	435	1	0	0	0	0	1	0	0	0	6024	759	27	1	754	1	FOXO3	6	108984784	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	186300	108984784	62130283	3286	24211											
SESN1	27244	broad.mit.edu	37	chr6	109321872	109321872	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aggagcactgatgtcttgccGcagccttaaaacaaaaagat	15	8	9	9	1	1	2	0	1	1	1	1	3	1	3	2	1	4	2	2	1	4	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:109321872G>A	ENST00000356644.7	-	4	468	c.374C>T	c.(373-375)gCg>gTg	p.A125V	SESN1_ENST00000302071.2_Missense_Mutation_p.A59V|RP11-787I22.3_ENST00000605885.1_RNA|SESN1_ENST00000436639.2_Missense_Mutation_p.A184V	NM_001199933.1	NP_001186862.1	Q9Y6P5	SESN1_HUMAN	sestrin 1	125					cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|negative regulation of cell proliferation (GO:0008285)|regulation of protein kinase B signaling (GO:0051896)|regulation of response to reactive oxygen species (GO:1901031)	nucleus (GO:0005634)				cervix(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	10		all_cancers(87;6.45e-05)|Acute lymphoblastic leukemia(125;3.55e-10)|all_hematologic(75;1.68e-07)|all_epithelial(87;0.0106)|Colorectal(196;0.0637)		Epithelial(106;0.0014)|BRCA - Breast invasive adenocarcinoma(108;0.00146)|all cancers(137;0.0031)|OV - Ovarian serous cystadenocarcinoma(136;0.0117)		ATGTCTTGCCGCAGCCTTAAA	0.348																																						ENST00000436639.2																			0				cervix(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	10						c.(550-552)gCg>gTg		sestrin 1							68	64	66					6																	109321872		2203	4300	6503	SO:0001583	missense	27244				cell cycle arrest|negative regulation of cell proliferation|response to DNA damage stimulus	nucleus		g.chr6:109321872G>A	AF033120	CCDS5070.1, CCDS56444.1, CCDS56445.1	6q21	2008-10-23			ENSG00000080546	ENSG00000080546			21595	protein-coding gene	gene with protein product		606103				9926927, 7938006	Standard	NM_014454		Approved	SEST1, PA26	uc003psu.3	Q9Y6P5	OTTHUMG00000015338	ENST00000356644.7:c.374C>T	6.37:g.109321872G>A	ENSP00000349061:p.Ala125Val					SESN1_ENST00000356644.7_Missense_Mutation_p.A125V|SESN1_ENST00000302071.2_Missense_Mutation_p.A59V	p.A184V	NM_014454.2	NP_055269.1	Q9Y6P5	SESN1_HUMAN		Epithelial(106;0.0014)|BRCA - Breast invasive adenocarcinoma(108;0.00146)|all cancers(137;0.0031)|OV - Ovarian serous cystadenocarcinoma(136;0.0117)	4	1296	-		all_cancers(87;6.45e-05)|Acute lymphoblastic leukemia(125;3.55e-10)|all_hematologic(75;1.68e-07)|all_epithelial(87;0.0106)|Colorectal(196;0.0637)	125					Q2M2B7|Q5T316|Q9NV00|Q9UPD5|Q9Y6P6	Missense_Mutation	SNP	ENST00000356644.7	37	c.551C>T	CCDS56445.1	.	.	.	.	.	.	.	.	.	.	G	35	5.441536	0.96187	.	.	ENSG00000080546	ENST00000436639;ENST00000302071;ENST00000356644	T;T;T	0.57273	0.41;0.41;0.41	5.99	5.99	0.97316	.	0.000000	0.85682	D	0.000000	T	0.74068	0.3668	M	0.86178	2.8	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.994;0.996	T	0.75004	-0.3470	10	0.56958	D	0.05	-31.08	20.4777	0.99188	0.0:0.0:1.0:0.0	.	184;125	Q9Y6P5-2;Q9Y6P5	.;SESN1_HUMAN	V	184;59;125	ENSP00000393762:A184V;ENSP00000306734:A59V;ENSP00000349061:A125V	ENSP00000306734:A59V	A	-	2	0	SESN1	109428565	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	9.476000	0.97823	2.840000	0.97914	0.655000	0.94253	GCG		0.348	SESN1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000041738.4	NM_014454		21	33	0	0	0	1	0	21	33					A	109321872	G	A	109321872	3	1	435	1	0	0	0	0	1	0	0	0	14124	1087	38	1	1132	1	SESN1	6	109321872	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	337088	109321872	61793195	3287	24212											
CD164	8763	broad.mit.edu	37	chr6	109699120	109699120	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taccggaacagaagtctgtcGtgttccccacttgacaatca	11	10	8	12	2	2	2	1	1	1	1	4	3	3	3	3	1	2	1	3	1	4	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:109699120G>A	ENST00000310786.4	-	3	379	c.314C>T	c.(313-315)aCg>aTg	p.T105M	CD164_ENST00000512821.1_Missense_Mutation_p.T105M|CD164_ENST00000506649.1_5'UTR|CD164_ENST00000275080.7_Missense_Mutation_p.T105M|CD164_ENST00000324953.5_Missense_Mutation_p.T105M|CD164_ENST00000413644.2_Missense_Mutation_p.T105M|CD164_ENST00000504373.1_Missense_Mutation_p.T71M|CD164_ENST00000368961.5_Missense_Mutation_p.T105M	NM_001142404.1|NM_006016.4	NP_001135876.1|NP_006007.2	Q04900	MUC24_HUMAN	CD164 molecule, sialomucin	105	Thr-rich.				cell adhesion (GO:0007155)|hemopoiesis (GO:0030097)|heterophilic cell-cell adhesion (GO:0007157)|immune response (GO:0006955)|multicellular organismal development (GO:0007275)|muscle organ development (GO:0007517)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell proliferation (GO:0008285)|signal transduction (GO:0007165)	endosome (GO:0005768)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)|plasma membrane (GO:0005886)				breast(1)|lung(2)	3		all_cancers(87;4.65e-22)|all_epithelial(87;2.54e-20)|all_lung(197;1.6e-05)|Lung NSC(302;2.92e-05)|Colorectal(196;3.46e-05)|Ovarian(999;0.0175)		Epithelial(106;7.83e-46)|all cancers(137;1.15e-45)|OV - Ovarian serous cystadenocarcinoma(136;2.89e-26)|BRCA - Breast invasive adenocarcinoma(108;0.00128)|GBM - Glioblastoma multiforme(226;0.16)		GAAGTCTGTCGTGTTCCCCAC	0.473																																						ENST00000368961.5																			0				breast(1)|lung(2)	3						c.(313-315)aCg>aTg		CD164 molecule, sialomucin							150	137	141					6																	109699120		2203	4300	6503	SO:0001583	missense	8763				hemopoiesis|heterophilic cell-cell adhesion|immune response|muscle organ development|negative regulation of cell adhesion|negative regulation of cell proliferation|signal transduction	endosome membrane|extracellular region|integral to plasma membrane|lysosomal membrane	protein binding	g.chr6:109699120G>A	AF106518	CCDS5073.1, CCDS47462.1, CCDS47463.1, CCDS47464.1, CCDS47465.1	6q21	2014-09-05	2006-03-28		ENSG00000135535	ENSG00000135535		"CD molecules"	1632	protein-coding gene	gene with protein product		603356	"CD164 antigen, sialomucin"			9680353, 9763543	Standard	NM_006016		Approved	MUC-24, MGC-24	uc003pte.3	Q04900	OTTHUMG00000015339	ENST00000310786.4:c.314C>T	6.37:g.109699120G>A	ENSP00000309376:p.Thr105Met					CD164_ENST00000275080.7_Missense_Mutation_p.T105M|CD164_ENST00000324953.5_Missense_Mutation_p.T105M|CD164_ENST00000506649.1_5'UTR|CD164_ENST00000310786.4_Missense_Mutation_p.T105M|CD164_ENST00000512821.1_Missense_Mutation_p.T105M|CD164_ENST00000504373.1_Missense_Mutation_p.T71M|CD164_ENST00000413644.2_Missense_Mutation_p.T105M	p.T105M			Q04900	MUC24_HUMAN		Epithelial(106;7.83e-46)|all cancers(137;1.15e-45)|OV - Ovarian serous cystadenocarcinoma(136;2.89e-26)|BRCA - Breast invasive adenocarcinoma(108;0.00128)|GBM - Glioblastoma multiforme(226;0.16)	3	494	-		all_cancers(87;4.65e-22)|all_epithelial(87;2.54e-20)|all_lung(197;1.6e-05)|Lung NSC(302;2.92e-05)|Colorectal(196;3.46e-05)|Ovarian(999;0.0175)	105			Thr-rich.		B4DQ85|E1P5E7|E1P5E8|E1P5E9|O95413|Q5JSU6|Q9BPV0|Q9NR26	Missense_Mutation	SNP	ENST00000310786.4	37	c.314C>T	CCDS5073.1	.	.	.	.	.	.	.	.	.	.	G	12.82	2.051505	0.36181	.	.	ENSG00000135535	ENST00000413644;ENST00000368961;ENST00000324953;ENST00000310786;ENST00000275080;ENST00000512821;ENST00000504373	T;T;T;T;T;T;T	0.49432	0.78;0.78;0.78;0.78;0.78;0.78;0.78	4.83	-1.23	0.09465	.	1.531590	0.03308	N	0.190068	T	0.24392	0.0591	L	0.36672	1.1	0.09310	N	1	D;D;D;D;D	0.62365	0.991;0.99;0.99;0.988;0.986	P;P;P;P;P	0.48982	0.597;0.556;0.556;0.594;0.458	T	0.09378	-1.0677	10	0.41790	T	0.15	10.5357	5.59	0.17295	0.0:0.3109:0.4227:0.2664	.	105;105;105;105;105	Q04900-5;Q04900-3;Q04900-4;Q04900;Q04900-2	.;.;.;MUC24_HUMAN;.	M	105;105;105;105;105;105;71	ENSP00000402237:T105M;ENSP00000357957:T105M;ENSP00000314177:T105M;ENSP00000309376:T105M;ENSP00000275080:T105M;ENSP00000427546:T105M;ENSP00000422999:T71M	ENSP00000275080:T105M	T	-	2	0	CD164	109805813	0.000000	0.05858	0.000000	0.03702	0.017000	0.09413	-2.342000	0.01099	-0.139000	0.11414	-0.302000	0.09304	ACG		0.473	CD164-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041742.1	NM_006016		27	33	0	0	0	1	0	27	33					A	109699120	G	A	109699120	3	1	435	1	0	0	0	0	1	0	0	0	2969	1145	40	1	346	1	CD164	6	109699120	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	377248	109699120	61415947	3288	24213											
MICAL1	64780	broad.mit.edu	37	chr6	109775015	109775015	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgccagctccacagcgacccGcagcccgcaaggtccagcac	9	2	10	20	4	0	0	0	0	0	0	2	1	2	0	5	1	4	4	5	1	1	0	rs200600122		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:109775015G>A	ENST00000358807.3	-	3	603	c.292C>T	c.(292-294)Cgg>Tgg	p.R98W	MICAL1_ENST00000368952.4_Missense_Mutation_p.R117W|MICAL1_ENST00000483856.1_5'Flank|MICAL1_ENST00000358577.3_Missense_Mutation_p.R98W	NM_022765.3	NP_073602.3	Q8TDZ2	MICA1_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 1	98	Monooxygenase domain. {ECO:0000250}.				actin filament depolymerization (GO:0030042)|cytoskeleton organization (GO:0007010)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of protein phosphorylation (GO:0001933)|oxidation-reduction process (GO:0055114)|signal transduction (GO:0007165)|sulfur oxidation (GO:0019417)	cytoplasm (GO:0005737)|intermediate filament (GO:0005882)	actin binding (GO:0003779)|FAD binding (GO:0071949)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen (GO:0016709)|SH3 domain binding (GO:0017124)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|liver(1)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40		all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149)		Epithelial(106;0.0142)|all cancers(137;0.0197)|OV - Ovarian serous cystadenocarcinoma(136;0.0233)|BRCA - Breast invasive adenocarcinoma(108;0.0574)		ACAGCGACCCGCAGCCCGCAA	0.652																																						ENST00000368952.4																			0				NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|liver(1)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40						c.(349-351)Cgg>Tgg		microtubule associated monooxygenase, calponin and LIM domain containing 1							69	63	65					6																	109775015		2203	4300	6503	SO:0001583	missense	64780				cytoskeleton organization|signal transduction	cytoplasm|intermediate filament	SH3 domain binding|zinc ion binding	g.chr6:109775015G>A	AB048948	CCDS5076.1, CCDS55047.1	6q21	2013-03-26	2013-03-26	2005-02-16	ENSG00000135596	ENSG00000135596			20619	protein-coding gene	gene with protein product		607129	"NEDD9 interacting protein with calponin homology and LIM domains"	NICAL		11827972	Standard	NM_022765		Approved	MICAL, FLJ11937, DKFZp434B1517, FLJ21739	uc003ptk.3	Q8TDZ2	OTTHUMG00000015350	ENST00000358807.3:c.292C>T	6.37:g.109775015G>A	ENSP00000351664:p.Arg98Trp					MICAL1_ENST00000358577.3_Missense_Mutation_p.R98W|MICAL1_ENST00000358807.3_Missense_Mutation_p.R98W	p.R117W			Q8TDZ2	MICA1_HUMAN		Epithelial(106;0.0142)|all cancers(137;0.0197)|OV - Ovarian serous cystadenocarcinoma(136;0.0233)|BRCA - Breast invasive adenocarcinoma(108;0.0574)	3	639	-		all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149)	98					B7Z3R5|E1P5F0|Q7Z633|Q8IVS9|Q96G47|Q9H6X6|Q9H7I0|Q9HAA1|Q9UFF7	Missense_Mutation	SNP	ENST00000358807.3	37	c.349C>T	CCDS5076.1	.	.	.	.	.	.	.	.	.	.	G	20.5	3.998477	0.74818	.	.	ENSG00000135596	ENST00000358807;ENST00000368952;ENST00000358577;ENST00000431946	T;T;T;T	0.51071	0.72;0.72;0.72;0.72	5.41	4.53	0.55603	Monooxygenase, FAD-binding (1);	0.000000	0.85682	D	0.000000	T	0.37265	0.0997	N	0.08118	0	0.44899	D	0.99791	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.55211	-0.8176	10	0.87932	D	0	.	13.3374	0.60524	0.0:0.0:0.8412:0.1588	.	117;98;98	B7Z3R5;Q8TDZ2-2;Q8TDZ2	.;.;MICA1_HUMAN	W	98;117;98;98	ENSP00000351664:R98W;ENSP00000357948:R117W;ENSP00000351385:R98W;ENSP00000407075:R98W	ENSP00000351385:R98W	R	-	1	2	MICAL1	109881708	1.000000	0.71417	0.997000	0.53966	0.825000	0.46686	3.477000	0.53151	1.502000	0.48669	0.561000	0.74099	CGG		0.652	MICAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041759.2	NM_022765		22	39	0	0	0	1	0	22	39					A	109775015	G	A	109775015	3	1	435	1	0	0	0	0	1	0	0	0	9569	1086	38	1	3003	1	MICAL1	6	109775015	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	75895	109775015	61340052	3289	24214											
GTF3C6	112495	broad.mit.edu	37	chr6	111288819	111288819	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gaagaagtggtagcttcagcCccagataaatctttggaatt	13	11	10	7	0	2	2	1	0	1	2	2	4	2	3	2	2	2	2	2	2	6	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:111288819C>T	ENST00000329970.7	+	6	678	c.468C>T	c.(466-468)gcC>gcT	p.A156A	GTF3C6_ENST00000480191.1_3'UTR|AL357515.1_ENST00000583422.1_RNA	NM_138408.3	NP_612417.1	Q969F1	TF3C6_HUMAN	general transcription factor IIIC, polypeptide 6, alpha 35kDa	156					5S class rRNA transcription from RNA polymerase III type 1 promoter (GO:0042791)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)|tRNA transcription from RNA polymerase III promoter (GO:0042797)	transcription factor TFIIIC complex (GO:0000127)	DNA binding (GO:0003677)			NS(1)|kidney(1)|large_intestine(1)|lung(1)	4		all_cancers(87;0.00328)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|Colorectal(196;0.0466)|all_epithelial(87;0.0575)		OV - Ovarian serous cystadenocarcinoma(136;0.105)|all cancers(137;0.179)|Epithelial(106;0.186)		TAGCTTCAGCCCCAGATAAAT	0.388																																						ENST00000329970.7																			0				NS(1)|kidney(1)|large_intestine(1)|lung(1)	4						c.(466-468)gcC>gcT		general transcription factor IIIC, polypeptide 6, alpha 35kDa							104	109	107					6																	111288819		2203	4300	6503	SO:0001819	synonymous_variant	112495					transcription factor TFIIIC complex	DNA binding|protein binding	g.chr6:111288819C>T	AK057977	CCDS5087.1	6q21	2010-03-23	2007-07-26	2007-07-26	ENSG00000155115	ENSG00000155115		"General transcription factors"	20872	protein-coding gene	gene with protein product		611784	"chromosome 6 open reading frame 51"	C6orf51		17409385	Standard	NM_138408		Approved	bA397G5.3, TFIIIC35	uc003pum.3	Q969F1	OTTHUMG00000015370	ENST00000329970.7:c.468C>T	6.37:g.111288819C>T						GTF3C6_ENST00000480191.1_3'UTR	p.A156A	NM_138408.3	NP_612417.1	Q969F1	TF3C6_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.105)|all cancers(137;0.179)|Epithelial(106;0.186)	6	678	+		all_cancers(87;0.00328)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|Colorectal(196;0.0466)|all_epithelial(87;0.0575)	156					Q5VXN2	Silent	SNP	ENST00000329970.7	37	c.468C>T	CCDS5087.1																																																																																				0.388	GTF3C6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041820.1	NM_138408		47	65	0	0	0	1	0	47	65					T	111288819	C	T	111288819	2	4	435	1	0	0	0	0	0	0	0	1	6877	610	22	3		3	GTF3C6	6	111288819	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	1513804	111288819	59826248	3290	24215											
REV3L	5980	broad.mit.edu	37	chr6	111685066	111685066	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcagttttacctcatgtaaaGcttttgcctcctgtaagttt	8	17	7	9	0	1	0	1	0	0	0	2	0	2	0	3	0	3	6	3	0	4	7			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:111685066G>A	ENST00000358835.3	-	17	7323	c.6869C>T	c.(6868-6870)gCt>gTt	p.A2290V	REV3L_ENST00000368802.3_Missense_Mutation_p.A2290V|REV3L_ENST00000368805.1_Missense_Mutation_p.A2290V|REV3L_ENST00000435970.1_Missense_Mutation_p.A2212V|REV3L-IT1_ENST00000411895.1_RNA			O60673	DPOLZ_HUMAN	REV3-like, polymerase (DNA directed), zeta, catalytic subunit	2290					DNA-dependent DNA replication (GO:0006261)|translesion synthesis (GO:0019985)	chromosome (GO:0005694)|nucleus (GO:0005634)|zeta DNA polymerase complex (GO:0016035)	4 iron, 4 sulfur cluster binding (GO:0051539)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)			NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		CTCATGTAAAGCTTTTGCCTC	0.338								DNA polymerases (catalytic subunits)																														ENST00000435970.1																			0				NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88						c.(6634-6636)gCt>gTt	DNA polymerases (catalytic subunits)	REV3-like, polymerase (DNA directed), zeta, catalytic subunit							175	158	164					6																	111685066		2203	4299	6502	SO:0001583	missense	5980				DNA-dependent DNA replication|translesion synthesis	nucleus|zeta DNA polymerase complex	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding	g.chr6:111685066G>A	AF058701	CCDS5091.2, CCDS69177.1	6q22	2012-05-18	2012-05-18		ENSG00000009413	ENSG00000009413		"DNA polymerases"	9968	protein-coding gene	gene with protein product	"polymerase, DNA, zeta"	602776	"REV3 (yeast homolog)-like, catalytic subunit of DNA polymerase zeta", "REV3-like, catalytic subunit of DNA polymerase zeta (yeast)"			9618506, 9925914	Standard	NM_001286431		Approved	POLZ, REV3	uc003puy.4	O60673	OTTHUMG00000016318	ENST00000358835.3:c.6869C>T	6.37:g.111685066G>A	ENSP00000351697:p.Ala2290Val					REV3L_ENST00000358835.3_Missense_Mutation_p.A2290V|REV3L_ENST00000368805.1_Missense_Mutation_p.A2290V|REV3L_ENST00000368802.3_Missense_Mutation_p.A2290V	p.A2212V			O60673	DPOLZ_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)	18	7451	-		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)	2290					O43214|Q5TC33	Missense_Mutation	SNP	ENST00000358835.3	37	c.6635C>T	CCDS5091.2	.	.	.	.	.	.	.	.	.	.	G	23.9	4.469334	0.84533	.	.	ENSG00000009413	ENST00000368802;ENST00000368805;ENST00000358835;ENST00000435970;ENST00000543871	T;T;T;T	0.10099	2.91;2.91;2.91;2.91	5.26	5.26	0.73747	DNA-directed DNA polymerase, family B, exonuclease domain (1);Ribonuclease H-like (1);	0.069019	0.56097	D	0.000025	T	0.07052	0.0179	N	0.19112	0.55	0.43287	D	0.995263	P	0.42296	0.775	P	0.48089	0.566	T	0.23547	-1.0185	10	0.52906	T	0.07	-5.3338	15.2665	0.73666	0.0:0.1406:0.8594:0.0	.	2290	O60673	DPOLZ_HUMAN	V	2290;2290;2290;2212;363	ENSP00000357792:A2290V;ENSP00000357795:A2290V;ENSP00000351697:A2290V;ENSP00000402003:A2212V	ENSP00000351697:A2290V	A	-	2	0	REV3L	111791759	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.124000	0.77185	2.467000	0.83353	0.557000	0.71058	GCT		0.338	REV3L-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043695.1	NM_002912		12	28	0	0	0	1	0	12	28					A	111685066	G	A	111685066	3	1	435	1	0	0	0	0	1	0	0	0	13240	971	34	3	2591	3	REV3L	6	111685066	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	396247	111685066	59430001	3291	24216											
REV3L	5980	broad.mit.edu	37	chr6	111694060	111694060	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	acagttctaaatcttcacagGccacgtctacaagttcacca	13	10	5	13	1	5	0	2	0	3	0	5	0	5	0	2	1	1	2	2	1	4	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:111694060G>A	ENST00000358835.3	-	14	5952	c.5498C>T	c.(5497-5499)gCc>gTc	p.A1833V	REV3L_ENST00000368802.3_Missense_Mutation_p.A1833V|REV3L_ENST00000368805.1_Missense_Mutation_p.A1833V|REV3L_ENST00000435970.1_Missense_Mutation_p.A1755V			O60673	DPOLZ_HUMAN	REV3-like, polymerase (DNA directed), zeta, catalytic subunit	1833					DNA-dependent DNA replication (GO:0006261)|translesion synthesis (GO:0019985)	chromosome (GO:0005694)|nucleus (GO:0005634)|zeta DNA polymerase complex (GO:0016035)	4 iron, 4 sulfur cluster binding (GO:0051539)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)			NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		ATCTTCACAGGCCACGTCTAC	0.418								DNA polymerases (catalytic subunits)																														ENST00000435970.1																			0				NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88						c.(5263-5265)gCc>gTc	DNA polymerases (catalytic subunits)	REV3-like, polymerase (DNA directed), zeta, catalytic subunit							172	162	165					6																	111694060		2203	4300	6503	SO:0001583	missense	5980				DNA-dependent DNA replication|translesion synthesis	nucleus|zeta DNA polymerase complex	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding	g.chr6:111694060G>A	AF058701	CCDS5091.2, CCDS69177.1	6q22	2012-05-18	2012-05-18		ENSG00000009413	ENSG00000009413		"DNA polymerases"	9968	protein-coding gene	gene with protein product	"polymerase, DNA, zeta"	602776	"REV3 (yeast homolog)-like, catalytic subunit of DNA polymerase zeta", "REV3-like, catalytic subunit of DNA polymerase zeta (yeast)"			9618506, 9925914	Standard	NM_001286431		Approved	POLZ, REV3	uc003puy.4	O60673	OTTHUMG00000016318	ENST00000358835.3:c.5498C>T	6.37:g.111694060G>A	ENSP00000351697:p.Ala1833Val					REV3L_ENST00000358835.3_Missense_Mutation_p.A1833V|REV3L_ENST00000368805.1_Missense_Mutation_p.A1833V|REV3L_ENST00000368802.3_Missense_Mutation_p.A1833V	p.A1755V			O60673	DPOLZ_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)	15	6080	-		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)	1833					O43214|Q5TC33	Missense_Mutation	SNP	ENST00000358835.3	37	c.5264C>T	CCDS5091.2	.	.	.	.	.	.	.	.	.	.	G	13.17	2.157369	0.38119	.	.	ENSG00000009413	ENST00000368802;ENST00000368805;ENST00000358835;ENST00000435970	T;T;T;T	0.01665	4.79;4.79;4.79;4.7	5.93	5.93	0.95920	Ribonuclease H-like (1);	0.275261	0.35151	N	0.003408	T	0.01387	0.0045	L	0.56769	1.78	0.43637	D	0.996039	P	0.35745	0.518	B	0.31390	0.129	T	0.64744	-0.6335	10	0.27082	T	0.32	-4.0917	18.5173	0.90939	0.0:0.0:1.0:0.0	.	1833	O60673	DPOLZ_HUMAN	V	1833;1833;1833;1755	ENSP00000357792:A1833V;ENSP00000357795:A1833V;ENSP00000351697:A1833V;ENSP00000402003:A1755V	ENSP00000351697:A1833V	A	-	2	0	REV3L	111800753	1.000000	0.71417	0.998000	0.56505	0.820000	0.46376	4.715000	0.61909	2.805000	0.96524	0.655000	0.94253	GCC		0.418	REV3L-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043695.1	NM_002912		54	85	0	0	0	1	0	54	85					A	111694060	G	A	111694060	3	1	435	1	0	0	0	0	1	0	0	0	13240	1203	42	3	3974	3	REV3L	6	111694060	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	8994	111694060	59421007	3292	24217											
REV3L	5980	broad.mit.edu	37	chr6	111695045	111695045	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atttttacactgagaaagtgCtttggtttgtgaaattgctt	10	18	9	4	0	0	2	0	2	0	1	0	3	0	2	0	1	3	3	0	1	3	7			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:111695045C>A	ENST00000358835.3	-	14	4967	c.4513G>T	c.(4513-4515)Gca>Tca	p.A1505S	REV3L_ENST00000368802.3_Missense_Mutation_p.A1505S|REV3L_ENST00000368805.1_Missense_Mutation_p.A1505S|REV3L_ENST00000435970.1_Missense_Mutation_p.A1427S			O60673	DPOLZ_HUMAN	REV3-like, polymerase (DNA directed), zeta, catalytic subunit	1505					DNA-dependent DNA replication (GO:0006261)|translesion synthesis (GO:0019985)	chromosome (GO:0005694)|nucleus (GO:0005634)|zeta DNA polymerase complex (GO:0016035)	4 iron, 4 sulfur cluster binding (GO:0051539)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)			NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		TGAGAAAGTGCTTTGGTTTGT	0.368								DNA polymerases (catalytic subunits)																														ENST00000435970.1																			0				NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88						c.(4279-4281)Gca>Tca	DNA polymerases (catalytic subunits)	REV3-like, polymerase (DNA directed), zeta, catalytic subunit							163	156	158					6																	111695045		2203	4300	6503	SO:0001583	missense	5980				DNA-dependent DNA replication|translesion synthesis	nucleus|zeta DNA polymerase complex	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding	g.chr6:111695045C>A	AF058701	CCDS5091.2, CCDS69177.1	6q22	2012-05-18	2012-05-18		ENSG00000009413	ENSG00000009413		"DNA polymerases"	9968	protein-coding gene	gene with protein product	"polymerase, DNA, zeta"	602776	"REV3 (yeast homolog)-like, catalytic subunit of DNA polymerase zeta", "REV3-like, catalytic subunit of DNA polymerase zeta (yeast)"			9618506, 9925914	Standard	NM_001286431		Approved	POLZ, REV3	uc003puy.4	O60673	OTTHUMG00000016318	ENST00000358835.3:c.4513G>T	6.37:g.111695045C>A	ENSP00000351697:p.Ala1505Ser					REV3L_ENST00000358835.3_Missense_Mutation_p.A1505S|REV3L_ENST00000368805.1_Missense_Mutation_p.A1505S|REV3L_ENST00000368802.3_Missense_Mutation_p.A1505S	p.A1427S			O60673	DPOLZ_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)	15	5095	-		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)	1505					O43214|Q5TC33	Missense_Mutation	SNP	ENST00000358835.3	37	c.4279G>T	CCDS5091.2	.	.	.	.	.	.	.	.	.	.	C	8.380	0.837416	0.16891	.	.	ENSG00000009413	ENST00000368802;ENST00000368805;ENST00000358835;ENST00000435970	T;T;T;T	0.01548	4.88;4.88;4.88;4.78	6.04	5.18	0.71444	Ribonuclease H-like (1);	0.247933	0.34338	N	0.004060	T	0.00967	0.0032	L	0.55481	1.735	0.35357	D	0.787872	B	0.21071	0.051	B	0.21917	0.037	T	0.45673	-0.9245	10	0.46703	T	0.11	-6.4676	7.1546	0.25630	0.1213:0.678:0.1309:0.0698	.	1505	O60673	DPOLZ_HUMAN	S	1505;1505;1505;1427	ENSP00000357792:A1505S;ENSP00000357795:A1505S;ENSP00000351697:A1505S;ENSP00000402003:A1427S	ENSP00000351697:A1505S	A	-	1	0	REV3L	111801738	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.423000	0.34837	1.568000	0.49683	0.563000	0.77884	GCA		0.368	REV3L-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043695.1	NM_002912		38	71	1	0	4.14481e-20	1	4.59174e-20	38	71					A	111695045	C	A	111695045	3	1	435	1	0	0	0	0	1	0	0	0	13240	797	28	5	4959	5	REV3L	6	111695045	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	985	111695045	59420022	3293	24218											
REV3L	5980	broad.mit.edu	37	chr6	111726774	111726774	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtaggaggtagggaatatgcGcttcatgaggctggtaaaat	12	10	15	4	1	1	1	1	1	0	0	1	3	1	3	0	5	1	5	0	5	6	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:111726774G>A	ENST00000358835.3	-	5	918	c.464C>T	c.(463-465)gCg>gTg	p.A155V	REV3L_ENST00000368802.3_Missense_Mutation_p.A155V|REV3L_ENST00000368805.1_Missense_Mutation_p.A155V|REV3L_ENST00000435970.1_Missense_Mutation_p.A77V			O60673	DPOLZ_HUMAN	REV3-like, polymerase (DNA directed), zeta, catalytic subunit	155					DNA-dependent DNA replication (GO:0006261)|translesion synthesis (GO:0019985)	chromosome (GO:0005694)|nucleus (GO:0005634)|zeta DNA polymerase complex (GO:0016035)	4 iron, 4 sulfur cluster binding (GO:0051539)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)			NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		GGGAATATGCGCTTCATGAGG	0.343								DNA polymerases (catalytic subunits)																														ENST00000435970.1																			0				NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88						c.(229-231)gCg>gTg	DNA polymerases (catalytic subunits)	REV3-like, polymerase (DNA directed), zeta, catalytic subunit							135	143	140					6																	111726774		2203	4300	6503	SO:0001583	missense	5980				DNA-dependent DNA replication|translesion synthesis	nucleus|zeta DNA polymerase complex	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding	g.chr6:111726774G>A	AF058701	CCDS5091.2, CCDS69177.1	6q22	2012-05-18	2012-05-18		ENSG00000009413	ENSG00000009413		"DNA polymerases"	9968	protein-coding gene	gene with protein product	"polymerase, DNA, zeta"	602776	"REV3 (yeast homolog)-like, catalytic subunit of DNA polymerase zeta", "REV3-like, catalytic subunit of DNA polymerase zeta (yeast)"			9618506, 9925914	Standard	NM_001286431		Approved	POLZ, REV3	uc003puy.4	O60673	OTTHUMG00000016318	ENST00000358835.3:c.464C>T	6.37:g.111726774G>A	ENSP00000351697:p.Ala155Val					REV3L_ENST00000358835.3_Missense_Mutation_p.A155V|REV3L_ENST00000368805.1_Missense_Mutation_p.A155V|REV3L_ENST00000368802.3_Missense_Mutation_p.A155V	p.A77V			O60673	DPOLZ_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)	6	1046	-		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)	155					O43214|Q5TC33	Missense_Mutation	SNP	ENST00000358835.3	37	c.230C>T	CCDS5091.2	.	.	.	.	.	.	.	.	.	.	G	31	5.081167	0.94050	.	.	ENSG00000009413	ENST00000368802;ENST00000368805;ENST00000358835;ENST00000435970	T;T;T;T	0.49432	4.66;4.66;4.66;0.78	5.47	5.47	0.80525	DNA-directed DNA polymerase, family B, exonuclease domain (1);Ribonuclease H-like (1);	0.048903	0.85682	D	0.000000	T	0.67411	0.2890	M	0.80183	2.485	0.45762	D	0.998653	D	0.89917	1.0	D	0.76071	0.987	T	0.71500	-0.4574	10	0.72032	D	0.01	-24.6454	19.3184	0.94226	0.0:0.0:1.0:0.0	.	155	O60673	DPOLZ_HUMAN	V	155;155;155;77	ENSP00000357792:A155V;ENSP00000357795:A155V;ENSP00000351697:A155V;ENSP00000402003:A77V	ENSP00000351697:A155V	A	-	2	0	REV3L	111833467	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.515000	0.81761	2.571000	0.86741	0.585000	0.79938	GCG		0.343	REV3L-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043695.1	NM_002912		41	60	0	0	0	1	0	41	60					A	111726774	G	A	111726774	3	1	435	1	0	0	0	0	1	0	0	0	13240	1087	38	1	9044	1	REV3L	6	111726774	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	31729	111726774	59388293	3294	24219											
TRAF3IP2	10758	broad.mit.edu	37	chr6	111880685	111880685	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttcctctctcagcagccgcaGcaggatgttttttttattct	6	17	7	11	1	3	0	1	0	2	0	5	1	4	1	2	1	3	4	2	1	1	6			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:111880685G>A	ENST00000340026.6	-	10	2242	c.1648C>T	c.(1648-1650)Ctg>Ttg	p.L550L	TRAF3IP2-AS1_ENST00000449449.2_RNA|TRAF3IP2_ENST00000359831.4_Silent_p.L540L|TRAF3IP2-AS1_ENST00000456352.2_RNA|TRAF3IP2_ENST00000368731.2_5'UTR|TRAF3IP2_ENST00000392556.4_Silent_p.L129L|TRAF3IP2-AS1_ENST00000440395.1_RNA|TRAF3IP2_ENST00000368761.5_Silent_p.L541L|TRAF3IP2-AS1_ENST00000438298.2_RNA|TRAF3IP2_ENST00000368735.1_Silent_p.L85L|TRAF3IP2-AS1_ENST00000442928.2_RNA|TRAF3IP2-AS1_ENST00000532353.1_RNA			O43734	CIKS_HUMAN	TRAF3 interacting protein 2	550	SEFIR. {ECO:0000255|PROSITE- ProRule:PRU00867}.				B cell apoptotic process (GO:0001783)|humoral immune response (GO:0006959)|immunoglobulin secretion (GO:0048305)|intracellular signal transduction (GO:0035556)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)					central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|urinary_tract(1)	18		all_cancers(87;7.87e-06)|Acute lymphoblastic leukemia(125;3.61e-09)|all_hematologic(75;2.63e-07)|all_epithelial(87;0.0024)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.033)|all cancers(137;0.0412)|Epithelial(106;0.0732)		AGCAGCCGCAGCAGGATGTTT	0.552																																						ENST00000368761.5																			0				central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|urinary_tract(1)	18						c.(1621-1623)Ctg>Ttg		TRAF3 interacting protein 2							118	115	116					6																	111880685		2203	4300	6503	SO:0001819	synonymous_variant	10758				intracellular signal transduction|positive regulation of I-kappaB kinase/NF-kappaB cascade	intracellular		g.chr6:111880685G>A	AF136405	CCDS5093.1, CCDS55049.1, CCDS55050.1	6q21	2008-09-05	2002-06-20	2005-04-13	ENSG00000056972	ENSG00000056972			1343	protein-coding gene	gene with protein product		607043	"chromosome 6 open reading frame 5", "chromosome 6 open reading frame 2"	C6orf4, C6orf5, C6orf6, C6orf2		10962033, 10962024	Standard	NR_028338		Approved	DKFZP586G0522, ACT1, CIKS	uc003pvf.4	O43734	OTTHUMG00000015379	ENST00000340026.6:c.1648C>T	6.37:g.111880685G>A						TRAF3IP2_ENST00000359831.4_Silent_p.L540L|TRAF3IP2-AS1_ENST00000449449.2_RNA|TRAF3IP2-AS1_ENST00000440395.1_RNA|TRAF3IP2-AS1_ENST00000532353.1_RNA|TRAF3IP2_ENST00000340026.6_Silent_p.L550L|TRAF3IP2_ENST00000368735.1_Silent_p.L85L|TRAF3IP2-AS1_ENST00000442928.2_RNA|TRAF3IP2_ENST00000368731.2_5'UTR|TRAF3IP2-AS1_ENST00000438298.2_RNA|TRAF3IP2-AS1_ENST00000456352.2_RNA|TRAF3IP2_ENST00000392556.4_Silent_p.L129L	p.L541L	NM_001164281.2|NM_147686.3	NP_001157753.1|NP_679211.2	O43734	CIKS_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.033)|all cancers(137;0.0412)|Epithelial(106;0.0732)	9	2099	-		all_cancers(87;7.87e-06)|Acute lymphoblastic leukemia(125;3.61e-09)|all_hematologic(75;2.63e-07)|all_epithelial(87;0.0024)|Colorectal(196;0.021)	550			SEFIR.		B2RAY9|E1P555|Q5R3A3|Q7Z6Q1|Q7Z6Q2|Q7Z6Q3|Q9H5W2|Q9H6Y3|Q9NS14|Q9UG72	Silent	SNP	ENST00000340026.6	37	c.1621C>T																																																																																					0.552	TRAF3IP2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000041841.2			44	54	0	0	0	1	0	44	54					A	111880685	G	A	111880685	2	1	435	1	0	0	0	0	0	0	0	1	16438	962	34	3		3	TRAF3IP2	6	111880685	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	153911	111880685	59234382	3295	24220											
TRAF3IP2	10758	broad.mit.edu	37	chr6	111896846	111896846	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caatgttgcaaacaacttacGcaattcttctggcaaattgc	13	12	6	10	1	2	0	0	0	2	0	2	0	2	0	0	1	5	4	0	1	6	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:111896846G>A	ENST00000340026.6	-	5	1822	c.1228C>T	c.(1228-1230)Cgg>Tgg	p.R410W	TRAF3IP2-AS1_ENST00000449449.2_RNA|TRAF3IP2_ENST00000359831.4_Splice_Site_p.R401W|TRAF3IP2-AS1_ENST00000456352.2_RNA|TRAF3IP2_ENST00000368731.2_5'Flank|TRAF3IP2_ENST00000392556.4_5'UTR|TRAF3IP2-AS1_ENST00000606892.1_RNA|TRAF3IP2-AS1_ENST00000440395.1_RNA|TRAF3IP2-AS1_ENST00000607066.1_RNA|TRAF3IP2_ENST00000368761.5_Splice_Site_p.R401W|TRAF3IP2-AS1_ENST00000438298.2_RNA|TRAF3IP2-AS1_ENST00000442928.2_RNA|TRAF3IP2-AS1_ENST00000532353.1_RNA			O43734	CIKS_HUMAN	TRAF3 interacting protein 2	410	SEFIR. {ECO:0000255|PROSITE- ProRule:PRU00867}.				B cell apoptotic process (GO:0001783)|humoral immune response (GO:0006959)|immunoglobulin secretion (GO:0048305)|intracellular signal transduction (GO:0035556)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)					central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|urinary_tract(1)	18		all_cancers(87;7.87e-06)|Acute lymphoblastic leukemia(125;3.61e-09)|all_hematologic(75;2.63e-07)|all_epithelial(87;0.0024)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.033)|all cancers(137;0.0412)|Epithelial(106;0.0732)		AACAACTTACGCAATTCTTCT	0.493																																						ENST00000368761.5																			0				central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|urinary_tract(1)	18						c.e4+1		TRAF3 interacting protein 2							82	81	81					6																	111896846		2203	4300	6503	SO:0001630	splice_region_variant	10758				intracellular signal transduction|positive regulation of I-kappaB kinase/NF-kappaB cascade	intracellular		g.chr6:111896846G>A	AF136405	CCDS5093.1, CCDS55049.1, CCDS55050.1	6q21	2008-09-05	2002-06-20	2005-04-13	ENSG00000056972	ENSG00000056972			1343	protein-coding gene	gene with protein product		607043	"chromosome 6 open reading frame 5", "chromosome 6 open reading frame 2"	C6orf4, C6orf5, C6orf6, C6orf2		10962033, 10962024	Standard	NR_028338		Approved	DKFZP586G0522, ACT1, CIKS	uc003pvf.4	O43734	OTTHUMG00000015379	ENST00000340026.6:c.1228+1C>T	6.37:g.111896846G>A						TRAF3IP2-AS1_ENST00000606892.1_RNA|TRAF3IP2_ENST00000359831.4_Splice_Site_p.R401_splice|TRAF3IP2-AS1_ENST00000449449.2_RNA|TRAF3IP2-AS1_ENST00000607066.1_RNA|TRAF3IP2-AS1_ENST00000440395.1_RNA|TRAF3IP2-AS1_ENST00000532353.1_RNA|TRAF3IP2_ENST00000340026.6_Splice_Site_p.R410_splice|TRAF3IP2-AS1_ENST00000442928.2_RNA|TRAF3IP2-AS1_ENST00000438298.2_RNA|TRAF3IP2-AS1_ENST00000456352.2_RNA|TRAF3IP2_ENST00000392556.4_5'UTR	p.R401_splice	NM_001164281.2|NM_147686.3	NP_001157753.1|NP_679211.2	O43734	CIKS_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.033)|all cancers(137;0.0412)|Epithelial(106;0.0732)	4	1679	-		all_cancers(87;7.87e-06)|Acute lymphoblastic leukemia(125;3.61e-09)|all_hematologic(75;2.63e-07)|all_epithelial(87;0.0024)|Colorectal(196;0.021)	410					B2RAY9|E1P555|Q5R3A3|Q7Z6Q1|Q7Z6Q2|Q7Z6Q3|Q9H5W2|Q9H6Y3|Q9NS14|Q9UG72	Splice_Site	SNP	ENST00000340026.6	37	c.1201_splice		.	.	.	.	.	.	.	.	.	.	G	20.4	3.977321	0.74360	.	.	ENSG00000056972	ENST00000392555;ENST00000368761;ENST00000340026;ENST00000359831	T;T;T	0.35236	1.32;1.32;4.33	5.57	4.69	0.59074	SEFIR (1);	0.000000	0.85682	D	0.000000	T	0.44222	0.1283	L	0.50333	1.59	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.998;0.999	T	0.36648	-0.9739	9	.	.	.	-9.0184	16.2596	0.82533	0.0:0.0:0.8664:0.1336	.	410;401;401	O43734;O43734-2;Q7Z6Q1	CIKS_HUMAN;.;.	W	410;401;410;401	ENSP00000357750:R401W;ENSP00000345984:R410W;ENSP00000352889:R401W	.	R	-	1	2	TRAF3IP2	112003539	1.000000	0.71417	0.983000	0.44433	0.686000	0.39977	3.692000	0.54727	1.475000	0.48197	0.650000	0.86243	CGG		0.493	TRAF3IP2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000041841.2		Missense_Mutation	17	34	0	0	0	1	0	17	34					A	111896846	G	A	111896846	5	1	435	1	0	0	0	0	0	0	1	0	16438	1101	38	1	520	1	TRAF3IP2	6	111896846	Splice_Site	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	16161	111896846	59218221	3296	24221											
WISP3	8838	broad.mit.edu	37	chr6	112386138	112386138	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggtggaaagaagtctgatcAgtcaaactgtagcctggaac	14	8	12	7	0	3	2	2	1	1	1	3	4	3	4	1	3	3	1	1	3	5	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:112386138A>G	ENST00000368666.2	+	3	813	c.527A>G	c.(526-528)cAg>cGg	p.Q176R	WISP3_ENST00000230529.5_Missense_Mutation_p.Q176R|WISP3_ENST00000604763.1_Missense_Mutation_p.Q176R|WISP3_ENST00000409166.1_5'UTR|WISP3_ENST00000361714.1_Missense_Mutation_p.Q194R|WISP3_ENST00000368663.3_Missense_Mutation_p.Q153R	NM_198239.1	NP_937882.1	O95389	WISP3_HUMAN	WNT1 inducible signaling pathway protein 3	176					cell-cell signaling (GO:0007267)|regulation of cell growth (GO:0001558)|signal transduction (GO:0007165)	extracellular space (GO:0005615)				breast(1)|central_nervous_system(1)|large_intestine(3)|lung(7)|prostate(1)	13		all_cancers(87;0.000196)|Acute lymphoblastic leukemia(125;1.18e-05)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0283)|OV - Ovarian serous cystadenocarcinoma(136;0.0613)|Epithelial(106;0.0827)|GBM - Glioblastoma multiforme(226;0.0972)|BRCA - Breast invasive adenocarcinoma(108;0.246)		AAGTCTGATCAGTCAAACTGT	0.478																																						ENST00000361714.1																			0				breast(1)|central_nervous_system(1)|large_intestine(3)|lung(7)|prostate(1)	13						c.(580-582)cAg>cGg		WNT1 inducible signaling pathway protein 3							128	121	124					6																	112386138		2203	4300	6503	SO:0001583	missense	8838				cell-cell signaling|regulation of cell growth|signal transduction	extracellular region|soluble fraction	growth factor activity|insulin-like growth factor binding	g.chr6:112386138A>G	AF100781	CCDS5097.1, CCDS5098.1	6q21	2014-05-06			ENSG00000112761	ENSG00000112761			12771	protein-coding gene	gene with protein product		603400				9843955	Standard	NM_003880		Approved	CCN6	uc003pvo.3	O95389	OTTHUMG00000185101	ENST00000368666.2:c.527A>G	6.37:g.112386138A>G	ENSP00000357655:p.Gln176Arg					WISP3_ENST00000409166.1_5'UTR|WISP3_ENST00000604763.1_Missense_Mutation_p.Q176R|WISP3_ENST00000368663.3_Missense_Mutation_p.Q153R|WISP3_ENST00000368666.2_Missense_Mutation_p.Q176R|WISP3_ENST00000230529.5_Missense_Mutation_p.Q176R	p.Q194R			O95389	WISP3_HUMAN		all cancers(137;0.0283)|OV - Ovarian serous cystadenocarcinoma(136;0.0613)|Epithelial(106;0.0827)|GBM - Glioblastoma multiforme(226;0.0972)|BRCA - Breast invasive adenocarcinoma(108;0.246)	3	626	+		all_cancers(87;0.000196)|Acute lymphoblastic leukemia(125;1.18e-05)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)	176					Q3KR29|Q5H8W4|Q6UXH6	Missense_Mutation	SNP	ENST00000368666.2	37	c.581A>G	CCDS5098.1	.	.	.	.	.	.	.	.	.	.	A	10.83	1.459876	0.26248	.	.	ENSG00000112761	ENST00000368666;ENST00000230529;ENST00000361714;ENST00000541400;ENST00000368663	T;T;T;T	0.79352	-1.24;-1.24;-1.26;-1.24	5.44	-2.12	0.07165	.	1.862450	0.04039	U	0.302790	T	0.41926	0.1180	L	0.29908	0.895	0.09310	N	1	B;B	0.10296	0.003;0.003	B;B	0.09377	0.004;0.001	T	0.23297	-1.0192	10	0.46703	T	0.11	-2.7881	2.7628	0.05312	0.4888:0.2773:0.1306:0.1034	.	194;176	O95389-2;O95389	.;WISP3_HUMAN	R	176;176;194;176;153	ENSP00000357655:Q176R;ENSP00000230529:Q176R;ENSP00000354734:Q194R;ENSP00000357652:Q153R	ENSP00000230529:Q176R	Q	+	2	0	WISP3	112492831	0.001000	0.12720	0.001000	0.08648	0.861000	0.49209	1.016000	0.29976	-0.229000	0.09854	0.454000	0.30748	CAG		0.478	WISP3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041873.2	NM_003880		41	51	0	0	0	1	0	41	51					G	112386138	A	G	112386138	3	3	435	1	0	0	0	0	1	0	0	0	17371	188	7	4	591	4	WISP3	6	112386138	Missense_Mutation	SNP	A	TCGA-XK-AAIW-01A-11D-A41K-08	489292	112386138	58728929	3297	24222											
LAMA4	3910	broad.mit.edu	37	chr6	112440445	112440445	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggtagcttcagtaggaggaaGactttcttctaggactcgga	10	11	13	7	1	3	1	1	0	2	1	4	5	3	5	0	5	1	3	0	5	4	6	rs367951149		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:112440445G>A	ENST00000230538.7	-	34	5132	c.4735C>T	c.(4735-4737)Ctt>Ttt	p.L1579F	LAMA4_ENST00000424408.2_Missense_Mutation_p.L1572F|LAMA4_ENST00000389463.4_Missense_Mutation_p.L1572F|LAMA4_ENST00000522006.1_Missense_Mutation_p.L1572F	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN	laminin, alpha 4	1579	Laminin G-like 4. {ECO:0000255|PROSITE- ProRule:PRU00122}.				blood vessel development (GO:0001568)|brown fat cell differentiation (GO:0050873)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)	extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		GTAGGAGGAAGACTTTCTTCT	0.468																																						ENST00000230538.7																			0				NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100						c.(4735-4737)Ctt>Ttt		laminin, alpha 4		G	PHE/LEU,PHE/LEU,PHE/LEU	0,4406		0,0,2203	129	125	126		4735,4714,4714	3.7	1	6		126	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	LAMA4	NM_001105206.1,NM_001105207.1,NM_002290.3	22,22,22	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign,benign,benign	1579/1824,1572/1817,1572/1817	112440445	1,13005	2203	4300	6503	SO:0001583	missense	3910				cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	extracellular matrix structural constituent|receptor binding	g.chr6:112440445G>A		CCDS34514.1, CCDS43491.1, CCDS43492.1	6q21	2014-09-17			ENSG00000112769	ENSG00000112769		"Laminins"	6484	protein-coding gene	gene with protein product		600133				7959779	Standard	NM_001105206		Approved	LAMA3	uc003pvu.3	Q16363	OTTHUMG00000015386	ENST00000230538.7:c.4735C>T	6.37:g.112440445G>A	ENSP00000230538:p.Leu1579Phe					LAMA4_ENST00000389463.4_Missense_Mutation_p.L1572F|LAMA4_ENST00000424408.2_Missense_Mutation_p.L1572F|LAMA4_ENST00000522006.1_Missense_Mutation_p.L1572F	p.L1579F	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)	34	5132	-		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)	1579			Laminin G-like 4.		Q14731|Q14735|Q15335|Q4LE44|Q5SZG8|Q9BTB8|Q9UE18|Q9UJN9	Missense_Mutation	SNP	ENST00000230538.7	37	c.4735C>T	CCDS43491.1	.	.	.	.	.	.	.	.	.	.	G	13.26	2.185217	0.38609	0.0	1.16E-4	ENSG00000112769	ENST00000230538;ENST00000522006;ENST00000389463;ENST00000424408	T;T;T;T	0.78595	-1.19;-1.19;-1.19;-1.19	5.69	3.65	0.41850	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.389160	0.28871	N	0.013870	T	0.32585	0.0834	N	0.11364	0.135	0.80722	D	1	B;B	0.10296	0.003;0.002	B;B	0.12156	0.007;0.004	T	0.41324	-0.9515	10	0.09084	T	0.74	.	3.5375	0.07799	0.1154:0.1652:0.5494:0.17	.	1579;1572	Q16363;Q16363-2	LAMA4_HUMAN;.	F	1579;1572;1572;1572	ENSP00000230538:L1579F;ENSP00000429488:L1572F;ENSP00000374114:L1572F;ENSP00000416470:L1572F	ENSP00000230538:L1579F	L	-	1	0	LAMA4	112547138	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.242000	0.32755	2.692000	0.91855	0.555000	0.69702	CTT		0.468	LAMA4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041876.2	NM_001105206		39	46	0	0	0	1	0	39	46					A	112440445	G	A	112440445	3	1	435	1	0	0	0	0	1	0	0	0	8608	942	33	3	760	3	LAMA4	6	112440445	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	54307	112440445	58674622	3298	24223											
LAMA4	3910	broad.mit.edu	37	chr6	112443257	112443257	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	taagtgttcaaactcttggcGgctgttggctgttcctccat	6	15	10	10	1	2	0	1	0	1	0	4	0	4	0	2	3	1	5	2	3	2	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:112443257G>A	ENST00000230538.7	-	32	4832	c.4435C>T	c.(4435-4437)Cgc>Tgc	p.R1479C	LAMA4_ENST00000424408.2_Missense_Mutation_p.R1472C|LAMA4_ENST00000389463.4_Missense_Mutation_p.R1472C|LAMA4_ENST00000522006.1_Missense_Mutation_p.R1472C	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN	laminin, alpha 4	1479	Laminin G-like 4. {ECO:0000255|PROSITE- ProRule:PRU00122}.				blood vessel development (GO:0001568)|brown fat cell differentiation (GO:0050873)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)	extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		AACTCTTGGCGGCTGTTGGCT	0.458																																						ENST00000230538.7																			0				NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100						c.(4435-4437)Cgc>Tgc		laminin, alpha 4							203	191	195					6																	112443257		2203	4300	6503	SO:0001583	missense	3910				cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	extracellular matrix structural constituent|receptor binding	g.chr6:112443257G>A		CCDS34514.1, CCDS43491.1, CCDS43492.1	6q21	2014-09-17			ENSG00000112769	ENSG00000112769		"Laminins"	6484	protein-coding gene	gene with protein product		600133				7959779	Standard	NM_001105206		Approved	LAMA3	uc003pvu.3	Q16363	OTTHUMG00000015386	ENST00000230538.7:c.4435C>T	6.37:g.112443257G>A	ENSP00000230538:p.Arg1479Cys					LAMA4_ENST00000389463.4_Missense_Mutation_p.R1472C|LAMA4_ENST00000424408.2_Missense_Mutation_p.R1472C|LAMA4_ENST00000522006.1_Missense_Mutation_p.R1472C	p.R1479C	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)	32	4832	-		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)	1479			Laminin G-like 4.		Q14731|Q14735|Q15335|Q4LE44|Q5SZG8|Q9BTB8|Q9UE18|Q9UJN9	Missense_Mutation	SNP	ENST00000230538.7	37	c.4435C>T	CCDS43491.1	.	.	.	.	.	.	.	.	.	.	G	26.4	4.731366	0.89390	.	.	ENSG00000112769	ENST00000230538;ENST00000522006;ENST00000389463;ENST00000424408	T;T;T;T	0.17213	2.29;2.29;2.29;2.29	5.62	5.62	0.85841	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (1);	0.048933	0.85682	D	0.000000	T	0.32466	0.0830	M	0.65498	2.005	0.80722	D	1	D;D	0.89917	1.0;1.0	P;D	0.66196	0.877;0.942	T	0.01341	-1.1380	10	0.46703	T	0.11	.	19.2862	0.94072	0.0:0.0:1.0:0.0	.	1479;1472	Q16363;Q16363-2	LAMA4_HUMAN;.	C	1479;1472;1472;1472	ENSP00000230538:R1479C;ENSP00000429488:R1472C;ENSP00000374114:R1472C;ENSP00000416470:R1472C	ENSP00000230538:R1479C	R	-	1	0	LAMA4	112549950	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.021000	0.70832	2.644000	0.89710	0.561000	0.74099	CGC		0.458	LAMA4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041876.2	NM_001105206		32	65	0	0	0	1	0	32	65					A	112443257	G	A	112443257	3	1	435	1	0	0	0	0	1	0	0	0	8608	1116	39	2	1068	2	LAMA4	6	112443257	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	2812	112443257	58671810	3299	24224											
HDAC2	3066	broad.mit.edu	37	chr6	114267235	114267235	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccaacatcgagcaacattacGgattgtgtagccacctcctc	11	9	7	14	2	0	0	0	0	0	0	3	2	1	1	4	1	5	2	4	1	4	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:114267235G>T	ENST00000519065.1	-	9	1295	c.919C>A	c.(919-921)Cgt>Agt	p.R307S	HDAC2_ENST00000519108.1_Missense_Mutation_p.R277S|HDAC2_ENST00000398283.2_Missense_Mutation_p.R401S|HDAC2_ENST00000368632.2_Missense_Mutation_p.R277S			Q92769	HDAC2_HUMAN	histone deacetylase 2	307	Histone deacetylase.				ATP-dependent chromatin remodeling (GO:0043044)|blood coagulation (GO:0007596)|cardiac muscle cell development (GO:0055013)|chromatin remodeling (GO:0006338)|circadian regulation of gene expression (GO:0032922)|dendrite development (GO:0016358)|embryonic digit morphogenesis (GO:0042733)|epidermal cell differentiation (GO:0009913)|eyelid development in camera-type eye (GO:0061029)|fungiform papilla formation (GO:0061198)|hair follicle placode formation (GO:0060789)|hippocampus development (GO:0021766)|histone deacetylation (GO:0016575)|histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|maintenance of chromatin silencing (GO:0006344)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cardiac muscle cell proliferation (GO:0060044)|negative regulation of cell cycle (GO:0045786)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of MHC class II biosynthetic process (GO:0045347)|negative regulation of neuron projection development (GO:0010977)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of cell proliferation (GO:0008284)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of oligodendrocyte differentiation (GO:0048714)|positive regulation of proteolysis (GO:0045862)|positive regulation of receptor biosynthetic process (GO:0010870)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of protein deacetylation (GO:0090311)|regulation of protein kinase B signaling (GO:0051896)|regulation of sarcomere organization (GO:0060297)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|ESC/E(Z) complex (GO:0035098)|heterochromatin (GO:0000792)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|NuRD complex (GO:0016581)|protein complex (GO:0043234)|replication fork (GO:0005657)|Sin3 complex (GO:0016580)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|deacetylase activity (GO:0019213)|enzyme binding (GO:0019899)|histone deacetylase activity (GO:0004407)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|poly(A) RNA binding (GO:0044822)|protein deacetylase activity (GO:0033558)|RNA polymerase II repressing transcription factor binding (GO:0001103)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			biliary_tract(1)|central_nervous_system(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|skin(2)	27		all_cancers(87;0.000629)|all_epithelial(87;0.00274)|Colorectal(196;0.0317)|all_lung(197;0.24)		all cancers(137;0.00318)|OV - Ovarian serous cystadenocarcinoma(136;0.00569)|Epithelial(106;0.0112)|GBM - Glioblastoma multiforme(226;0.0832)	Aminophylline(DB01223)|Lovastatin(DB00227)|Oxtriphylline(DB01303)|Theophylline(DB00277)|Valproic Acid(DB00313)|Vorinostat(DB02546)	GCAACATTACGGATTGTGTAG	0.378																																						ENST00000519065.1																			0				biliary_tract(1)|central_nervous_system(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|skin(2)	27						c.(919-921)Cgt>Agt		histone deacetylase 2	Vorinostat(DB02546)						149	144	146					6																	114267235		1952	4132	6084	SO:0001583	missense	3066				blood coagulation|dendrite development|embryonic digit morphogenesis|epidermal cell differentiation|eyelid development in camera-type eye|fungiform papilla formation|hair follicle placode formation|maintenance of chromatin silencing|negative regulation of apoptosis|negative regulation of cell cycle|negative regulation of neuron projection development|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|odontogenesis of dentine-containing tooth|positive regulation of cell proliferation|positive regulation of proteolysis|positive regulation of receptor biosynthetic process|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|ESC/E(Z) complex|NuRD complex|Sin3 complex	chromatin binding|enzyme binding|histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|sequence-specific DNA binding|transcription factor binding	g.chr6:114267235G>T	U31814	CCDS43493.1, CCDS43493.2	6q21	2008-08-29			ENSG00000196591	ENSG00000196591			4853	protein-coding gene	gene with protein product		605164				9782097	Standard	NM_001527		Approved	RPD3, YAF1	uc003pwd.2	Q92769	OTTHUMG00000015411	ENST00000519065.1:c.919C>A	6.37:g.114267235G>T	ENSP00000430432:p.Arg307Ser					HDAC2_ENST00000519108.1_Missense_Mutation_p.R277S|HDAC2_ENST00000368632.2_Missense_Mutation_p.R277S|HDAC2_ENST00000398283.2_Missense_Mutation_p.R401S	p.R307S			Q92769	HDAC2_HUMAN		all cancers(137;0.00318)|OV - Ovarian serous cystadenocarcinoma(136;0.00569)|Epithelial(106;0.0112)|GBM - Glioblastoma multiforme(226;0.0832)	9	1295	-		all_cancers(87;0.000629)|all_epithelial(87;0.00274)|Colorectal(196;0.0317)|all_lung(197;0.24)	307			Histone deacetylase.		B3KRS5|B4DL58|E1P561|Q5SRI8|Q5SZ86|Q8NEH4	Missense_Mutation	SNP	ENST00000519065.1	37	c.919C>A	CCDS43493.2	.	.	.	.	.	.	.	.	.	.	G	19.26	3.793054	0.70452	.	.	ENSG00000196591	ENST00000519065;ENST00000398283;ENST00000519108;ENST00000368632	T;T;T;T	0.69175	-0.38;-0.38;-0.38;-0.38	5.98	5.98	0.97165	Histone deacetylase domain (2);	0.000000	0.64402	D	0.000001	T	0.69584	0.3127	M	0.73319	2.225	0.58432	D	0.999998	P;D	0.56287	0.772;0.975	B;P	0.52424	0.194;0.698	T	0.73260	-0.4039	10	0.66056	D	0.02	-13.7078	15.2004	0.73132	0.0:0.0:0.8592:0.1408	.	277;307	B3KRS5;Q92769	.;HDAC2_HUMAN	S	307;401;277;277	ENSP00000430432:R307S;ENSP00000381331:R401S;ENSP00000430008:R277S;ENSP00000357621:R277S	ENSP00000357621:R277S	R	-	1	0	HDAC2	114373928	1.000000	0.71417	0.982000	0.44146	0.975000	0.68041	6.459000	0.73513	2.838000	0.97847	0.591000	0.81541	CGT		0.378	HDAC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041909.2			36	52	1	0	2.38352e-08	1	2.51487e-08	36	52					T	114267235	G	T	114267235	3	4	435	1	0	0	0	0	1	0	0	0	7007	1116	39	5	571	5	HDAC2	6	114267235	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	1823978	114267235	56847832	3300	24225											
FRK	2444	broad.mit.edu	37	chr6	116263644	116263644	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aatagtcttcaagtttccaaCgcagtgtctcaaatgtaggt	12	13	8	8	1	3	0	2	0	2	0	5	0	4	0	1	1	1	3	1	1	6	4	rs141525046	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:116263644C>T	ENST00000606080.1	-	8	1897	c.1451G>A	c.(1450-1452)cGt>cAt	p.R484H	FRK_ENST00000538210.1_Missense_Mutation_p.R342H	NM_002031.2	NP_002022.1	P42685	FRK_HUMAN	fyn-related Src family tyrosine kinase	484	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell differentiation (GO:0030154)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)	p.R484L(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|skin(1)|urinary_tract(1)	27		all_cancers(87;0.00559)|all_epithelial(87;0.00738)|Colorectal(196;0.0465)		all cancers(137;0.0128)|OV - Ovarian serous cystadenocarcinoma(136;0.0209)|GBM - Glioblastoma multiforme(226;0.0459)|Epithelial(106;0.0625)	Regorafenib(DB08896)	AAGTTTCCAACGCAGTGTCTC	0.388													c|||	5	0.000998403	0	0.0014	5008	,	,		20780	0		0.004	False		,,,				2504	0					ENST00000606080.1																			1	Substitution - Missense(1)	p.R484L(1)	lung(1)	breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|skin(1)|urinary_tract(1)	27						c.(1450-1452)cGt>cAt		fyn-related kinase		C	HIS/ARG	0,4406		0,0,2203	137	132	134		1451	1.8	0.1	6	dbSNP_134	134	4,8596	3.7+/-12.6	0,4,4296	yes	missense	FRK	NM_002031.2	29	0,4,6499	TT,TC,CC		0.0465,0.0,0.0308	benign	484/506	116263644	4,13002	2203	4300	6503	SO:0001583	missense	2444				negative regulation of cell proliferation	cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding	g.chr6:116263644C>T	U00803	CCDS5103.1	6q21-q22.3	2014-06-25	2014-06-25		ENSG00000111816	ENSG00000111816	2.7.10.1	"SH2 domain containing"	3955	protein-coding gene	gene with protein product		606573	"PTK5 protein tyrosine kinase 5", "fyn-related kinase"	PTK5		7510261	Standard	NM_002031		Approved	RAK, GTK	uc003pwi.1	P42685	OTTHUMG00000015424	ENST00000606080.1:c.1451G>A	6.37:g.116263644C>T	ENSP00000476145:p.Arg484His					FRK_ENST00000538210.1_Missense_Mutation_p.R342H	p.R484H	NM_002031.2	NP_002022.1	P42685	FRK_HUMAN		all cancers(137;0.0128)|OV - Ovarian serous cystadenocarcinoma(136;0.0209)|GBM - Glioblastoma multiforme(226;0.0459)|Epithelial(106;0.0625)	8	1897	-		all_cancers(87;0.00559)|all_epithelial(87;0.00738)|Colorectal(196;0.0465)	484			Protein kinase.		B4DY49|Q13128|Q9NTR5	Missense_Mutation	SNP	ENST00000606080.1	37	c.1451G>A	CCDS5103.1	4	0.0018315018315018315	0	0.0	0	0.0	0	0.0	4	0.005277044854881266	c	5.636	0.301940	0.10678	0.0	4.65E-4	ENSG00000111816	ENST00000368626;ENST00000538210	T;T	0.34667	1.35;1.35	5.59	1.83	0.25207	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.644681	0.14692	N	0.304140	T	0.10637	0.0260	L	0.41492	1.28	0.23249	N	0.998042	B	0.02656	0.0	B	0.01281	0.0	T	0.29701	-1.0003	10	0.41790	T	0.15	.	6.2639	0.20915	0.1184:0.1318:0.0:0.7498	.	484	P42685	FRK_HUMAN	H	484;342	ENSP00000357615:R484H;ENSP00000443075:R342H	ENSP00000357615:R484H	R	-	2	0	FRK	116370337	0.905000	0.30787	0.114000	0.21550	0.181000	0.23173	1.393000	0.34497	0.074000	0.16767	-0.374000	0.07098	CGT		0.388	FRK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041924.2	NM_002031		22	40	0	0	0	1	0	22	40					T	116263644	C	T	116263644	3	4	435	1	0	0	0	0	1	0	0	0	6048	536	19	1	70	1	FRK	6	116263644	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	1996409	116263644	54851423	3301	24226											
NT5DC1	221294	broad.mit.edu	37	chr6	116432053	116432053	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tgatgactccagaggtgctgGcagaggcatatggcaagaaa	13	7	14	7	0	0	5	0	2	0	3	1	5	1	5	1	4	1	4	1	4	3	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:116432053G>A	ENST00000319550.4	+	4	380	c.298G>A	c.(298-300)Gca>Aca	p.A100T		NM_152729.2	NP_689942.2	Q5TFE4	NT5D1_HUMAN	5'-nucleotidase domain containing 1	100							hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			large_intestine(2)|lung(2)|prostate(2)|skin(1)|stomach(1)	8		all_cancers(87;0.00367)|all_epithelial(87;0.00449)|Colorectal(196;0.0469)		all cancers(137;0.0327)|OV - Ovarian serous cystadenocarcinoma(136;0.0445)|GBM - Glioblastoma multiforme(226;0.0719)|Epithelial(106;0.112)		AGAGGTGCTGGCAGAGGCATA	0.517																																					Colon(128;1440 1664 38087 41475 42869)	ENST00000319550.4																			0				large_intestine(2)|lung(2)|prostate(2)|skin(1)|stomach(1)	8						c.(298-300)Gca>Aca		5'-nucleotidase domain containing 1							103	92	96					6																	116432053		2203	4300	6503	SO:0001583	missense	221294						hydrolase activity|metal ion binding	g.chr6:116432053G>A	BC015138	CCDS5104.1	6q22.31	2008-02-05	2006-01-27	2006-01-27	ENSG00000178425	ENSG00000178425			21556	protein-coding gene	gene with protein product			"5'-nucleotidase, cytosolic II-like 1"	NT5C2L1			Standard	NM_152729		Approved	dJ486I3.1, MGC24302	uc003pwj.3	Q5TFE4	OTTHUMG00000015428	ENST00000319550.4:c.298G>A	6.37:g.116432053G>A	ENSP00000326858:p.Ala100Thr						p.A100T	NM_152729.2	NP_689942.2	Q5TFE4	NT5D1_HUMAN		all cancers(137;0.0327)|OV - Ovarian serous cystadenocarcinoma(136;0.0445)|GBM - Glioblastoma multiforme(226;0.0719)|Epithelial(106;0.112)	4	380	+		all_cancers(87;0.00367)|all_epithelial(87;0.00449)|Colorectal(196;0.0469)	100					B2RND9|B3KR35|Q6XYD5	Missense_Mutation	SNP	ENST00000319550.4	37	c.298G>A	CCDS5104.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	2.749|2.749	-0.260423|-0.260423	0.05791|0.05791	.|.	.|.	ENSG00000178425|ENSG00000178425	ENST00000368618;ENST00000319550;ENST00000419791|ENST00000417846	T;T|.	0.22539|.	1.95;1.95|.	4.43|4.43	-0.999|-0.999	0.10208|0.10208	HAD-like domain (1);|.	0.838842|.	0.10818|.	N|.	0.630792|.	T|.	0.03220|.	0.0094|.	N|N	0.08118|0.08118	0|0	0.09310|0.09310	N|N	1|1	B;B;B|.	0.17038|.	0.02;0.0;0.001|.	B;B;B|.	0.20384|.	0.029;0.009;0.011|.	T|.	0.39781|.	-0.9597|.	10|.	0.11182|.	T|.	0.66|.	-14.9535|-14.9535	1.1346|1.1346	0.01752|0.01752	0.1896:0.1938:0.3707:0.2459|0.1896:0.1938:0.3707:0.2459	.|.	50;100;100|.	B3KR35;A8K2Z3;Q5TFE4|.	.;.;NT5D1_HUMAN|.	T|X	100|13	ENSP00000326858:A100T;ENSP00000393578:A100T|.	ENSP00000326858:A100T|.	A|W	+|+	1|3	0|0	NT5DC1|NT5DC1	116538746|116538746	0.056000|0.056000	0.20664|0.20664	0.549000|0.549000	0.28204|0.28204	0.133000|0.133000	0.20885|0.20885	0.109000|0.109000	0.15417|0.15417	0.297000|0.297000	0.22615|0.22615	-0.314000|-0.314000	0.08810|0.08810	GCA|TGG		0.517	NT5DC1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041931.3	NM_152729		7	39	0	0	0	1	0	7	39					A	116432053	G	A	116432053	3	1	435	1	0	0	0	0	1	0	0	0	10690	1203	42	3	312	3	NT5DC1	6	116432053	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	168409	116432053	54683014	3302	24227											
COL10A1	1300	broad.mit.edu	37	chr6	116442996	116442996	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcccggtggtcctggcaaccCtggctctccttggagtccag	4	10	12	15	1	1	0	0	0	1	0	5	1	4	1	5	5	1	2	5	5	1	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:116442996C>A	ENST00000327673.4	-	2	690	c.283G>T	c.(283-285)Ggg>Tgg	p.G95W	COL10A1_ENST00000243222.4_Missense_Mutation_p.G95W|NT5DC1_ENST00000319550.4_Intron|AL121963.1_ENST00000430695.1_Missense_Mutation_p.P126H			Q03692	COAA1_HUMAN	collagen, type X, alpha 1	95	Triple-helical region.				cartilage development (GO:0051216)|collagen catabolic process (GO:0030574)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	cell cortex (GO:0005938)|collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(2)|lung(6)|skin(3)|upper_aerodigestive_tract(1)	13		all_cancers(87;0.0176)|all_epithelial(87;0.0263)|Colorectal(196;0.234)		all cancers(137;0.0157)|OV - Ovarian serous cystadenocarcinoma(136;0.0325)|GBM - Glioblastoma multiforme(226;0.0446)|Epithelial(106;0.0711)		CCTGGCAACCCTGGCTCTCCT	0.602																																						ENST00000327673.4																			0				central_nervous_system(1)|endometrium(2)|lung(6)|skin(3)|upper_aerodigestive_tract(1)	13						c.(283-285)Ggg>Tgg		collagen, type X, alpha 1							70	69	69					6																	116442996		2203	4300	6503	SO:0001583	missense	1300				skeletal system development	collagen	metal ion binding	g.chr6:116442996C>A		CCDS5105.1	6q21-q22	2013-01-16	2008-07-29		ENSG00000123500	ENSG00000123500		"Collagens"	2185	protein-coding gene	gene with protein product	"Schmid metaphyseal chondrodysplasia"	120110				2037056	Standard	XM_006715332		Approved		uc003pwm.3	Q03692	OTTHUMG00000015426	ENST00000327673.4:c.283G>T	6.37:g.116442996C>A	ENSP00000327368:p.Gly95Trp					AL121963.1_ENST00000430695.1_Missense_Mutation_p.P126H|COL10A1_ENST00000243222.4_Missense_Mutation_p.G95W|NT5DC1_ENST00000319550.4_Intron	p.G95W			Q03692	COAA1_HUMAN		all cancers(137;0.0157)|OV - Ovarian serous cystadenocarcinoma(136;0.0325)|GBM - Glioblastoma multiforme(226;0.0446)|Epithelial(106;0.0711)	2	690	-		all_cancers(87;0.0176)|all_epithelial(87;0.0263)|Colorectal(196;0.234)	95			Triple-helical region.		A1L4P2	Missense_Mutation	SNP	ENST00000327673.4	37	c.283G>T	CCDS5105.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.46|16.46	3.129916|3.129916	0.56721|0.56721	.|.	.|.	ENSG00000123500|ENSG00000234188	ENST00000243222;ENST00000327673;ENST00000452729|ENST00000430695	D;D;D|.	0.99369|.	-5.78;-5.78;-5.78|.	5.55|5.55	5.55|5.55	0.83447|0.83447	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.91503|0.91503	0.7317|0.7317	H|H	0.99590|0.99590	4.645|4.645	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.97110|.	1.0|.	D|D	0.94679|0.94679	0.7863|0.7863	10|6	0.87932|0.87932	D|D	0|0	.|.	19.8686|19.8686	0.96842|0.96842	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	95|.	Q03692|.	COAA1_HUMAN|.	W|H	95|126	ENSP00000243222:G95W;ENSP00000327368:G95W;ENSP00000411285:G95W|.	ENSP00000243222:G95W|ENSP00000415795:P126H	G|P	-|+	1|2	0|0	COL10A1|AL121963.1	116549689|116549689	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.735000|0.735000	0.41995|0.41995	7.818000|7.818000	0.86416|0.86416	2.768000|2.768000	0.95171|0.95171	0.655000|0.655000	0.94253|0.94253	GGG|CCT		0.602	COL10A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041926.1			23	27	1	0	2.00529e-23	1	2.23482e-23	23	27					A	116442996	C	A	116442996	3	1	435	1	0	0	0	0	1	0	0	0	3666	681	24	5	1763	5	COL10A1	6	116442996	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	10943	116442996	54672071	3303	24228											
FAM26E	254228	broad.mit.edu	37	chr6	116836953	116836954	+	Frame_Shift_Ins	INS	-	-	T																															agcgagaggaacctgaaatgINStttttttgaaaacaagaggc																										TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:116836953_116836954insT	ENST00000368599.3	+	2	782_783	c.731_732insT	c.(730-735)tgttttfs	p.CF244fs	TRAPPC3L_ENST00000368602.3_Intron	NM_153711.2	NP_714922.1	Q8N5C1	FA26E_HUMAN	family with sequence similarity 26, member E	244					ion transport (GO:0006811)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1)	7		all_cancers(87;0.0608)|all_epithelial(87;0.05)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0242)|all cancers(137;0.0419)|OV - Ovarian serous cystadenocarcinoma(136;0.0671)|Epithelial(106;0.212)		AACCTGAAATGTTTTTTTGAAA	0.46																																						ENST00000368599.3																			0				breast(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1)	7						c.(730-732)tttfs		family with sequence similarity 26, member E																																				SO:0001589	frameshift_variant	254228					integral to membrane		g.chr6:116836953_116836954insT	BC032556	CCDS5108.1	6q22.31	2008-02-05	2007-03-19	2007-03-19	ENSG00000178033	ENSG00000178033			21568	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 188"	C6orf188			Standard	NM_153711		Approved	dJ493F7.3, MGC45451	uc003pwy.3	Q8N5C1	OTTHUMG00000015442	ENST00000368599.3:c.738dupT	6.37:g.116836960_116836960dupT	ENSP00000357588:p.Cys244fs					TRAPPC3L_ENST00000368602.3_Intron	p.F244fs	NM_153711.2	NP_714922.1	Q8N5C1	FA26E_HUMAN		GBM - Glioblastoma multiforme(226;0.0242)|all cancers(137;0.0419)|OV - Ovarian serous cystadenocarcinoma(136;0.0671)|Epithelial(106;0.212)	2	782_783	+		all_cancers(87;0.0608)|all_epithelial(87;0.05)|Colorectal(196;0.234)	244					B2RDJ9|B3KSR3	Frame_Shift_Ins	INS	ENST00000368599.3	37	c.731_732insT	CCDS5108.1																																																																																				0.46	FAM26E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041956.1	NM_153711		13	68						13	68	---	---	---	---	T	116836954	-	T	116836953	7	5	435	1	0	1	1	0	0	0	0	0	5550	1377	48	0	737	0	FAM26E	6	116836953	Frame_Shift_Ins	INS	-	TCGA-XK-AAIW-01A-11D-A41K-08	393957	116836953	54278114	3304	24229											
RSPH4A	345895	broad.mit.edu	37	chr6	116949448	116949448	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cgaaatagctttgaggaaaaCcctgattttgaaggcatcca	14	10	9	8	1	0	3	0	3	0	0	1	5	1	4	2	2	2	2	2	2	5	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:116949448C>T	ENST00000229554.5	+	3	1715	c.1578C>T	c.(1576-1578)aaC>aaT	p.N526N	RSPH4A_ENST00000368580.4_Intron|RSPH4A_ENST00000368581.4_Silent_p.N526N	NM_001010892.2	NP_001010892.1	Q5TD94	RSH4A_HUMAN	radial spoke head 4 homolog A (Chlamydomonas)	526	Glu-rich.				axoneme assembly (GO:0035082)|cilium movement (GO:0003341)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|motile cilium (GO:0031514)|nucleolus (GO:0005730)|nucleus (GO:0005634)|radial spoke (GO:0001534)				breast(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						TTGAGGAAAACCCTGATTTTG	0.458									Kartagener syndrome																													ENST00000229554.5																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						c.(1576-1578)aaC>aaT		radial spoke head 4 homolog A (Chlamydomonas)							130	133	132					6																	116949448		2203	4300	6503	SO:0001819	synonymous_variant	345895	Kartagener syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	cilium axoneme assembly|cilium movement	cytoplasm|cytoskeleton|radial spoke		g.chr6:116949448C>T		CCDS34521.1, CCDS55051.1	6q22.1	2012-05-03	2009-02-17	2009-02-17	ENSG00000111834	ENSG00000111834			21558	protein-coding gene	gene with protein product		612647	"radial spokehead-like 3"	RSHL3		19200523	Standard	NM_001010892		Approved	dJ412I7.1, FLJ37974, RSPH6B, CILD11	uc003pxe.2	Q5TD94	OTTHUMG00000015444	ENST00000229554.5:c.1578C>T	6.37:g.116949448C>T						RSPH4A_ENST00000368581.4_Silent_p.N526N|RSPH4A_ENST00000368580.4_Intron	p.N526N	NM_001010892.2	NP_001010892.1	Q5TD94	RSH4A_HUMAN			3	1715	+			526			Glu-rich.		B4DSI1|Q3KP24|Q5TD95	Silent	SNP	ENST00000229554.5	37	c.1578C>T	CCDS34521.1																																																																																				0.458	RSPH4A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041960.1	NM_001010892		4	121	0	0	0	1	0	4	121					T	116949448	C	T	116949448	2	4	435	1	0	0	0	0	0	0	0	1	13706	506	18	3		3	RSPH4A	6	116949448	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	112495	116949448	54165619	3305	24230											
KPNA5	3841	broad.mit.edu	37	chr6	117043316	117043316	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgcttaaatgtcctgtcaCgactgttgtttagcagtgac	8	15	9	9	1	1	1	1	1	0	0	2	2	2	1	1	0	2	4	1	0	3	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:117043316C>T	ENST00000368564.1	+	9	932	c.784C>T	c.(784-786)Cga>Tga	p.R262*	KPNA5_ENST00000356348.1_Nonsense_Mutation_p.R262*			O15131	IMA6_HUMAN	karyopherin alpha 5 (importin alpha 6)	259					cytokine-mediated signaling pathway (GO:0019221)|NLS-bearing protein import into nucleus (GO:0006607)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)	protein transporter activity (GO:0008565)			breast(6)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0298)|all cancers(137;0.0461)|OV - Ovarian serous cystadenocarcinoma(136;0.0513)|Epithelial(106;0.212)		TGTCCTGTCACGACTGTTGTT	0.373																																						ENST00000368564.1																			0				breast(6)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						c.(784-786)Cga>Tga		karyopherin alpha 5 (importin alpha 6)							159	139	146					6																	117043316		2203	4300	6503	SO:0001587	stop_gained	3841				NLS-bearing substrate import into nucleus	cytoplasm|nuclear pore	protein binding|protein transporter activity	g.chr6:117043316C>T	AF005361	CCDS5111.1	6q22.2	2013-02-14			ENSG00000196911	ENSG00000196911		"Importins", "Armadillo repeat containing"	6398	protein-coding gene	gene with protein product		604545				9395085	Standard	NM_002269		Approved	SRP6, IPOA6	uc003pxh.3	O15131	OTTHUMG00000015448	ENST00000368564.1:c.784C>T	6.37:g.117043316C>T	ENSP00000357552:p.Arg262*					KPNA5_ENST00000356348.1_Nonsense_Mutation_p.R262*	p.R262*			O15131	IMA5_HUMAN		GBM - Glioblastoma multiforme(226;0.0298)|all cancers(137;0.0461)|OV - Ovarian serous cystadenocarcinoma(136;0.0513)|Epithelial(106;0.212)	9	932	+		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)	259					B2RAI5|Q86X23	Nonsense_Mutation	SNP	ENST00000368564.1	37	c.784C>T	CCDS5111.1	.	.	.	.	.	.	.	.	.	.	C	36	5.749668	0.96890	.	.	ENSG00000196911	ENST00000368564;ENST00000356348	.	.	.	5.81	2.67	0.31697	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.6976	0.45907	0.2915:0.6345:0.0:0.074	.	.	.	.	X	262	.	ENSP00000348704:R262X	R	+	1	2	KPNA5	117150009	0.999000	0.42202	0.983000	0.44433	0.990000	0.78478	1.149000	0.31626	0.743000	0.32719	0.650000	0.86243	CGA		0.373	KPNA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041967.1	NM_002269		25	61	0	0	0	1	0	25	61					T	117043316	C	T	117043316	4	4	435	1	0	0	0	0	0	1	0	0	8433	528	19	1	818	1	KPNA5	6	117043316	Nonsense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	93868	117043316	54071751	3306	24231											
ROS1	6098	broad.mit.edu	37	chr6	117642475	117642475	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccggctgccagacctcgcagCtcagccaactctttgtcttc	6	10	8	17	2	3	1	1	0	2	1	5	1	3	1	4	1	4	3	4	1	1	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:117642475C>T	ENST00000368508.3	-	35	5922	c.5724G>A	c.(5722-5724)gaG>gaA	p.E1908E	GOPC_ENST00000467125.1_5'UTR|ROS1_ENST00000368507.3_Silent_p.E1902E	NM_002944.2	NP_002935.2	P08922	ROS1_HUMAN	ROS proto-oncogene 1 , receptor tyrosine kinase	1908					cell differentiation (GO:0030154)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|columnar/cuboidal epithelial cell development (GO:0002066)|negative regulation of gene expression (GO:0010629)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein phosphorylation (GO:0006468)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of phosphate transport (GO:0010966)|regulation of TOR signaling (GO:0032006)|spermatogenesis (GO:0007283)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		GACCTCGCAGCTCAGCCAACT	0.463			T	"GOPC, SDC4, SLC34A2, EZR, LRIG3"	"glioblastoma, NSCLC"																																	ENST00000368508.3				Dom	yes		6	6q22	6098	T	v-ros UR2 sarcoma virus oncogene homolog 1 (avian)			"O, E"	"GOPC, SDC4, SLC34A2, EZR, LRIG3"		"glioblastoma, NSCLC"	TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	0				NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162						c.(5722-5724)gaG>gaA		c-ros oncogene 1 , receptor tyrosine kinase							167	157	160					6																	117642475		2203	4300	6503	SO:0001819	synonymous_variant	6098				transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr6:117642475C>T	M13599	CCDS5116.1	6q21-q22	2014-06-26	2014-06-26		ENSG00000047936	ENSG00000047936		"Fibronectin type III domain containing"	10261	protein-coding gene	gene with protein product		165020	"v-ros avian UR2 sarcoma virus oncogene homolog 1", "v-ros UR2 sarcoma virus oncogene homolog 1 (avian)", "c-ros oncogene 1 , receptor tyrosine kinase"			1611909	Standard	NM_002944		Approved	MCF3, ROS, c-ros-1	uc003pxp.1	P08922	OTTHUMG00000016188	ENST00000368508.3:c.5724G>A	6.37:g.117642475C>T						GOPC_ENST00000467125.1_5'UTR|ROS1_ENST00000368507.3_Silent_p.E1902E	p.E1908E	NM_002944.2	NP_002935.2	P08922	ROS_HUMAN		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)	35	5922	-		all_cancers(87;0.00846)|all_epithelial(87;0.0242)	1908					Q15368|Q5TDB5	Silent	SNP	ENST00000368508.3	37	c.5724G>A	CCDS5116.1																																																																																				0.463	ROS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043464.1			58	86	0	0	0	1	0	58	86					T	117642475	C	T	117642475	2	4	435	1	0	0	0	0	0	0	0	1	13531	796	28	3		3	ROS1	6	117642475	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	599159	117642475	53472592	3307	24232											
C6orf204	387119	broad.mit.edu	37	chr6	118832471	118832471	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtaatcttacctgcaaactaGccacataagaatcctcacaa	16	9	4	12	0	2	1	1	0	1	1	3	1	3	1	3	0	4	2	3	0	7	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:118832471G>A	ENST00000368491.3	-	5	1868	c.1247C>T	c.(1246-1248)gCt>gTt	p.A416V	CEP85L_ENST00000419517.2_Missense_Mutation_p.A416V|CEP85L_ENST00000368488.5_Missense_Mutation_p.A419V|CEP85L_ENST00000392500.3_Missense_Mutation_p.A419V|CEP85L_ENST00000360290.3_Missense_Mutation_p.A314V	NM_001042475.2	NP_001035940.1	Q5SZL2	CE85L_HUMAN	centrosomal protein 85kDa-like	416						centrosome (GO:0005813)|cytoplasm (GO:0005737)											CTGCAAACTAGCCACATAAGA	0.343																																						ENST00000368491.3																			0											c.(1246-1248)gCt>gTt		centrosomal protein 85kDa-like							142	129	133					6																	118832471		2203	4300	6503	SO:0001583	missense	387119					centrosome		g.chr6:118832471G>A	AF308284	CCDS5119.2, CCDS43498.1, CCDS55052.1	6q22.31	2011-11-25	2011-11-25	2011-11-25	ENSG00000111860	ENSG00000111860			21638	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 204"	C6orf204			Standard	NM_206921		Approved	NY-BR-15, bA57K17.2	uc003pya.2	Q5SZL2	OTTHUMG00000015465	ENST00000368491.3:c.1247C>T	6.37:g.118832471G>A	ENSP00000357477:p.Ala416Val					CEP85L_ENST00000368488.5_Missense_Mutation_p.A419V|CEP85L_ENST00000360290.3_Missense_Mutation_p.A314V|CEP85L_ENST00000419517.2_Missense_Mutation_p.A416V|CEP85L_ENST00000392500.3_Missense_Mutation_p.A419V	p.A416V	NM_001042475.2	NP_001035940.1	Q5SZL2	CF204_HUMAN			5	1868	-			416					A1A4E1|A2A3P2|A2IDE5|F8W6J2|G3V0H3|Q2TAM2|Q5T323|Q7Z5K7|Q9H289	Missense_Mutation	SNP	ENST00000368491.3	37	c.1247C>T	CCDS43498.1	.	.	.	.	.	.	.	.	.	.	G	9.625	1.134924	0.21123	.	.	ENSG00000111860	ENST00000368491;ENST00000368488;ENST00000434604;ENST00000392500;ENST00000360290;ENST00000419517	T;T;T;T;T;T	0.22743	2.74;2.74;2.74;2.26;1.94;2.26	5.8	4.92	0.64577	.	0.552015	0.20047	N	0.100390	T	0.05318	0.0141	L	0.36672	1.1	0.09310	N	1	P;B;B;B	0.35272	0.493;0.277;0.328;0.328	B;B;B;B	0.28011	0.085;0.053;0.053;0.053	T	0.25502	-1.0130	10	0.12766	T	0.61	-2.0503	13.007	0.58710	0.0:0.3229:0.6771:0.0	.	419;416;419;416	Q5SZL2-2;G3V0H3;F8W6J2;Q5SZL2	.;.;.;CF204_HUMAN	V	416;419;419;419;314;416	ENSP00000357477:A416V;ENSP00000357474:A419V;ENSP00000392131:A419V;ENSP00000376288:A419V;ENSP00000353434:A314V;ENSP00000393317:A416V	ENSP00000353434:A314V	A	-	2	0	C6orf204	118939164	0.990000	0.36364	0.399000	0.26333	0.647000	0.38526	1.837000	0.39201	1.413000	0.46997	0.650000	0.86243	GCT		0.343	CEP85L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041996.2	NM_001042475		5	46	0	0	0	1	0	5	46					A	118832471	G	A	118832471	3	1	435	1	0	0	0	0	1	0	0	0	2353	971	34	3	1260	3	C6orf204	6	118832471	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	1189996	118832471	52282596	3308	24233											
PLN	5350	broad.mit.edu	37	chr6	118880187	118880187	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tacagaatctatttatcaatTtctgtctcatcttaatatgt	12	19	3	7	0	5	1	2	0	4	1	6	1	5	1	0	0	1	0	0	0	7	7			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:118880187T>G	ENST00000357525.5	+	2	295	c.103T>G	c.(103-105)Ttc>Gtc	p.F35V	CEP85L_ENST00000368491.3_Intron|CEP85L_ENST00000419517.2_Intron|CEP85L_ENST00000368488.5_Intron|CEP85L_ENST00000392500.3_Intron|CEP85L_ENST00000360290.3_Intron	NM_002667.3	NP_002658.1	P26678	PPLA_HUMAN	phospholamban	35					adrenergic receptor signaling pathway involved in heart process (GO:0086023)|blood circulation (GO:0008015)|calcium ion transport (GO:0006816)|cardiac muscle tissue development (GO:0048738)|cytosolic calcium ion homeostasis (GO:0051480)|negative regulation of ATPase activity (GO:0032780)|negative regulation of calcium ion binding (GO:1901877)|negative regulation of calcium ion import (GO:0090281)|negative regulation of calcium ion import into sarcoplasmic reticulum (GO:1902081)|negative regulation of calcium ion transmembrane transporter activity (GO:1901020)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of calcium-transporting ATPase activity (GO:1901895)|negative regulation of catalytic activity (GO:0043086)|negative regulation of heart rate (GO:0010459)|protein homooligomerization (GO:0051260)|regulation of calcium ion transport (GO:0051924)|regulation of calcium-transporting ATPase activity (GO:1901894)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart contraction (GO:0008016)|regulation of relaxation of cardiac muscle (GO:1901897)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of the force of heart contraction (GO:0002026)|regulation of the force of heart contraction by cardiac conduction (GO:0086092)|relaxation of cardiac muscle (GO:0055119)|response to testosterone (GO:0033574)|response to zinc ion (GO:0010043)	calcium ion-transporting ATPase complex (GO:0090534)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|mitochondrion (GO:0005739)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum (GO:0016529)|vesicle (GO:0031982)	ATPase binding (GO:0051117)|ATPase inhibitor activity (GO:0042030)|calcium channel regulator activity (GO:0005246)|enzyme inhibitor activity (GO:0004857)|identical protein binding (GO:0042802)			large_intestine(1)|lung(3)	4		all_cancers(87;0.0916)|all_epithelial(87;0.131)		GBM - Glioblastoma multiforme(226;0.0325)|all cancers(137;0.154)|OV - Ovarian serous cystadenocarcinoma(136;0.176)		ATTTATCAATTTCTGTCTCAT	0.418																																						ENST00000357525.5																			0				large_intestine(1)|lung(3)	4						c.(103-105)Ttc>Gtc		phospholamban							187	168	175					6																	118880187		2203	4300	6503	SO:0001583	missense	5350				blood circulation|regulation of calcium ion transport	integral to membrane|mitochondrial membrane|sarcoplasmic reticulum	calcium channel regulator activity|protein binding	g.chr6:118880187T>G		CCDS5120.1	6q22.1	2014-09-17			ENSG00000198523	ENSG00000198523			9080	protein-coding gene	gene with protein product		172405		PLB		1828805	Standard	NM_002667		Approved	CMD1P	uc003pye.3	P26678	OTTHUMG00000015462	ENST00000357525.5:c.103T>G	6.37:g.118880187T>G	ENSP00000350132:p.Phe35Val					CEP85L_ENST00000368488.5_Intron|CEP85L_ENST00000360290.3_Intron|CEP85L_ENST00000368491.3_Intron|CEP85L_ENST00000419517.2_Intron|CEP85L_ENST00000392500.3_Intron	p.F35V	NM_002667.3	NP_002658.1	P26678	PPLA_HUMAN		GBM - Glioblastoma multiforme(226;0.0325)|all cancers(137;0.154)|OV - Ovarian serous cystadenocarcinoma(136;0.176)	2	295	+		all_cancers(87;0.0916)|all_epithelial(87;0.131)	35						Missense_Mutation	SNP	ENST00000357525.5	37	c.103T>G	CCDS5120.1	.	.	.	.	.	.	.	.	.	.	T	13.53	2.263310	0.39995	.	.	ENSG00000198523	ENST00000357525	D	0.91577	-2.87	5.57	5.57	0.84162	.	0.000000	0.85682	D	0.000000	D	0.93360	0.7883	.	.	.	0.58432	D	0.999997	P	0.52842	0.956	P	0.58970	0.849	D	0.94314	0.7548	9	0.87932	D	0	-33.8086	15.7397	0.77882	0.0:0.0:0.0:1.0	.	35	P26678	PPLA_HUMAN	V	35	ENSP00000350132:F35V	ENSP00000350132:F35V	F	+	1	0	PLN	118986880	1.000000	0.71417	0.991000	0.47740	0.158000	0.22134	6.654000	0.74387	2.121000	0.65114	0.533000	0.62120	TTC		0.418	PLN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041993.1	NM_002667		26	33	0	0	0	1	0	26	33					G	118880187	T	G	118880187	3	3	435	1	0	0	0	0	1	0	0	0	12100	1841	64	5	105	5	PLN	6	118880187	Missense_Mutation	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	47716	118880187	52234880	3309	24234											
FAM184A	79632	broad.mit.edu	37	chr6	119295631	119295631	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tttatttccttgagtagctcGttagtcttattaaaatctgc	9	19	6	7	1	2	1	0	1	2	0	4	1	3	1	1	0	2	3	1	0	6	8			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:119295631G>A	ENST00000338891.7	-	14	3320	c.2877C>T	c.(2875-2877)aaC>aaT	p.N959N	RP11-351A11.1_ENST00000518570.1_RNA|FAM184A_ENST00000352896.5_Intron|FAM184A_ENST00000521531.1_Intron|FAM184A_ENST00000368475.4_Intron	NM_024581.4	NP_078857.5	Q8NB25	F184A_HUMAN	family with sequence similarity 184, member A	959						extracellular space (GO:0005615)				breast(2)|central_nervous_system(2)|endometrium(2)|kidney(5)|large_intestine(19)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(5)	52						TGAGTAGCTCGTTAGTCTTAT	0.338																																						ENST00000338891.7																			0				breast(2)|central_nervous_system(2)|endometrium(2)|kidney(5)|large_intestine(19)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(5)	52						c.(2875-2877)aaC>aaT		family with sequence similarity 184, member A							232	214	220					6																	119295631		1806	4078	5884	SO:0001819	synonymous_variant	79632							g.chr6:119295631G>A	BC009055	CCDS43499.1, CCDS43500.1, CCDS75508.1	6q22.31	2008-08-14	2008-08-14	2008-08-14	ENSG00000111879	ENSG00000111879			20991	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 60"	C6orf60		11230166	Standard	NM_024581		Approved	FLJ13942	uc003pyj.3	Q8NB25	OTTHUMG00000015471	ENST00000338891.7:c.2877C>T	6.37:g.119295631G>A						FAM184A_ENST00000521531.1_Intron|RP11-351A11.1_ENST00000518570.1_RNA|FAM184A_ENST00000352896.5_Intron|FAM184A_ENST00000368475.4_Intron	p.N959N	NM_024581.4	NP_078857.5	Q8NB25	F184A_HUMAN			14	3320	-			959					B9DI75|F8W8D6|Q5TBS9|Q7Z323|Q96GY8|Q9H0J8|Q9H851	Silent	SNP	ENST00000338891.7	37	c.2877C>T	CCDS43499.1																																																																																				0.338	FAM184A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042009.3	NM_024581		67	117	0	0	0	1	0	67	117					A	119295631	G	A	119295631	2	1	435	1	0	0	0	0	0	0	0	1	5511	1136	40	1		1	FAM184A	6	119295631	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	415444	119295631	51819436	3310	24235											
FAM184A	79632	broad.mit.edu	37	chr6	119324195	119324195	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttgaagccttaactcttcacGaagtttagaacactcttgtc	11	14	6	10	1	3	2	1	1	2	1	4	3	3	2	1	0	3	1	1	0	5	6	rs377670098		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:119324195G>A	ENST00000338891.7	-	9	2400	c.1957C>T	c.(1957-1959)Cgt>Tgt	p.R653C	RP11-351A11.1_ENST00000518570.1_RNA|FAM184A_ENST00000352896.5_Missense_Mutation_p.R533C|FAM184A_ENST00000521531.1_Missense_Mutation_p.R653C|FAM184A_ENST00000368475.4_Missense_Mutation_p.R533C	NM_024581.4	NP_078857.5	Q8NB25	F184A_HUMAN	family with sequence similarity 184, member A	653						extracellular space (GO:0005615)				breast(2)|central_nervous_system(2)|endometrium(2)|kidney(5)|large_intestine(19)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(5)	52						AACTCTTCACGAAGTTTAGAA	0.343																																						ENST00000338891.7																			0				breast(2)|central_nervous_system(2)|endometrium(2)|kidney(5)|large_intestine(19)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(5)	52						c.(1957-1959)Cgt>Tgt		family with sequence similarity 184, member A		G	CYS/ARG,CYS/ARG	1,3667		0,1,1833	89	83	84		1597,1957	5.1	1	6		84	0,8180		0,0,4090	no	missense,missense	FAM184A	NM_001100411.1,NM_024581.4	180,180	0,1,5923	AA,AG,GG		0.0,0.0273,0.0084	probably-damaging,probably-damaging	533/972,653/1141	119324195	1,11847	1834	4090	5924	SO:0001583	missense	79632							g.chr6:119324195G>A	BC009055	CCDS43499.1, CCDS43500.1, CCDS75508.1	6q22.31	2008-08-14	2008-08-14	2008-08-14	ENSG00000111879	ENSG00000111879			20991	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 60"	C6orf60		11230166	Standard	NM_024581		Approved	FLJ13942	uc003pyj.3	Q8NB25	OTTHUMG00000015471	ENST00000338891.7:c.1957C>T	6.37:g.119324195G>A	ENSP00000342604:p.Arg653Cys					FAM184A_ENST00000521531.1_Missense_Mutation_p.R653C|RP11-351A11.1_ENST00000518570.1_RNA|FAM184A_ENST00000352896.5_Missense_Mutation_p.R533C|FAM184A_ENST00000368475.4_Missense_Mutation_p.R533C	p.R653C	NM_024581.4	NP_078857.5	Q8NB25	F184A_HUMAN			9	2400	-			653					B9DI75|F8W8D6|Q5TBS9|Q7Z323|Q96GY8|Q9H0J8|Q9H851	Missense_Mutation	SNP	ENST00000338891.7	37	c.1957C>T	CCDS43499.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.288176	0.80803	2.73E-4	0.0	ENSG00000111879	ENST00000338891;ENST00000352896;ENST00000368475;ENST00000521531	T;T;T;T	0.38401	1.14;1.14;1.14;1.14	5.97	5.09	0.68999	.	0.000000	0.85682	D	0.000000	T	0.49779	0.1577	M	0.62723	1.935	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.997;0.989;0.998	T	0.56878	-0.7906	10	0.72032	D	0.01	-1.5073	16.5369	0.84375	0.0:0.0:0.8682:0.1318	.	653;533;653	Q8NB25-2;F8W8D6;Q8NB25	.;.;F184A_HUMAN	C	653;533;533;653	ENSP00000342604:R653C;ENSP00000326608:R533C;ENSP00000357460:R533C;ENSP00000430442:R653C	ENSP00000342604:R653C	R	-	1	0	FAM184A	119365894	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	6.314000	0.72848	1.509000	0.48786	0.650000	0.86243	CGT		0.343	FAM184A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042009.3	NM_024581		19	35	0	0	0	1	0	19	35					A	119324195	G	A	119324195	3	1	435	1	0	0	0	0	1	0	0	0	5511	1058	37	2	1505	2	FAM184A	6	119324195	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	28564	119324195	51790872	3311	24236											
TRDN	10345	broad.mit.edu	37	chr6	123600201	123600201	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgagcatgcatataacatacGtggaggtttaggcttgactt	11	13	11	6	1	0	2	0	2	0	0	0	3	0	3	0	3	4	4	0	3	4	7			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:123600201G>A	ENST00000398178.3	-	25	1558	c.1537C>T	c.(1537-1539)Caa>Taa	p.Q513*	TRDN_ENST00000334268.4_Splice_Site_p.Q513*	NM_006073.3	NP_006064.2	Q13061	TRDN_HUMAN	triadin	513					cellular calcium ion homeostasis (GO:0006874)|cytoplasmic microtubule organization (GO:0031122)|endoplasmic reticulum membrane organization (GO:0090158)|heart contraction (GO:0060047)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|myotube differentiation (GO:0014902)|negative regulation of ryanodine-sensitive calcium-release channel activity (GO:0060315)|positive regulation of cell communication by electrical coupling involved in cardiac conduction (GO:1901846)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cell communication by electrical coupling (GO:0010649)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to organic cyclic compound (GO:0014070)|transmembrane transport (GO:0055085)	calcium channel complex (GO:0034704)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum lumen (GO:0033018)|sarcoplasmic reticulum membrane (GO:0033017)	ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|protein homodimerization activity (GO:0042803)			NS(1)|endometrium(1)|kidney(1)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	41				GBM - Glioblastoma multiforme(226;0.184)		TATAACATACGTGGAGGTTTA	0.269																																						ENST00000334268.4																			0				NS(1)|endometrium(1)|kidney(1)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	41						c.e25+1		triadin							194	178	183					6																	123600201		1818	4076	5894	SO:0001630	splice_region_variant	10345				muscle contraction	integral to membrane|plasma membrane|sarcoplasmic reticulum membrane	receptor binding	g.chr6:123600201G>A	U18985	CCDS59035.1, CCDS75511.1	6q22.31	2008-05-15			ENSG00000186439	ENSG00000186439			12261	protein-coding gene	gene with protein product		603283				7588753	Standard	NM_001251987		Approved		uc003pzj.2	Q13061	OTTHUMG00000015497	ENST00000398178.3:c.1537+1C>T	6.37:g.123600201G>A						TRDN_ENST00000398178.3_Splice_Site_p.Q513_splice	p.Q513_splice			Q13061	TRDN_HUMAN		GBM - Glioblastoma multiforme(226;0.184)	25	1854	-			513					A5D6W5|F5H2W7|Q6NSB8	Splice_Site	SNP	ENST00000398178.3	37	c.1537_splice	CCDS55053.1	.	.	.	.	.	.	.	.	.	.	G	37	6.044985	0.97231	.	.	ENSG00000186439	ENST00000398178;ENST00000398161;ENST00000334268	.	.	.	4.35	4.35	0.52113	.	0.520454	0.16040	N	0.232441	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.3369	12.6867	0.56952	0.0:0.0:1.0:0.0	.	.	.	.	X	513;515;513	.	.	Q	-	1	0	TRDN	123641900	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	4.095000	0.57728	2.723000	0.93209	0.655000	0.94253	CAA		0.269	TRDN-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding			Nonsense_Mutation	16	27	0	0	0	1	0	16	27					A	123600201	G	A	123600201	5	1	435	1	0	0	0	0	0	0	1	0	16465	1159	40	1	720	1	TRDN	6	123600201	Splice_Site	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	4276006	123600201	47514866	3312	24237											
C6orf174	387104	broad.mit.edu	37	chr6	127796803	127796803	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcgagtgggcgtgaggcagcGgatgttgcgcacctcctccg	5	7	17	12	5	0	1	0	1	0	0	2	3	2	2	3	3	2	3	3	3	0	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:127796803G>A	ENST00000525778.1	-	6	3113	c.2368C>T	c.(2368-2370)Cgc>Tgc	p.R790C	SOGA3_ENST00000474293.2_5'UTR|SOGA3_ENST00000556132.1_Missense_Mutation_p.R790C|SOGA3_ENST00000465909.2_Missense_Mutation_p.R790C|SOGA3_ENST00000368268.2_Missense_Mutation_p.R790C|SOGA3_ENST00000481848.2_Missense_Mutation_p.R790C			Q5TF21	SOGA3_HUMAN	SOGA family member 3	790					regulation of autophagy (GO:0010506)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)		p.R790C(1)									GTGAGGCAGCGGATGTTGCGC	0.701																																						ENST00000556132.1																			1	Substitution - Missense(1)	p.R790C(1)	large_intestine(1)								c.(2368-2370)Cgc>Tgc		SOGA family member 3							21	27	25					6																	127796803		2124	4232	6356	SO:0001583	missense	387104					integral to membrane		g.chr6:127796803G>A	AK096490	CCDS43505.1	6q22.33	2013-03-28	2012-02-27	2012-02-27	ENSG00000214338	ENSG00000214338			21494	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 174"	C6orf174			Standard	NM_001012279		Approved	dJ403A15.3	uc003qbd.3	Q5TF21	OTTHUMG00000166438	ENST00000525778.1:c.2368C>T	6.37:g.127796803G>A	ENSP00000434570:p.Arg790Cys					SOGA3_ENST00000481848.2_Missense_Mutation_p.R790C|SOGA3_ENST00000368268.2_Missense_Mutation_p.R790C|SOGA3_ENST00000525778.1_Missense_Mutation_p.R790C|SOGA3_ENST00000465909.2_Missense_Mutation_p.R790C|SOGA3_ENST00000474293.2_5'UTR	p.R790C	NM_001012279.2	NP_001012279.1	Q5TF21	CF174_HUMAN			6	3232	-			790						Missense_Mutation	SNP	ENST00000525778.1	37	c.2368C>T	CCDS43505.1	.	.	.	.	.	.	.	.	.	.	G	28.5	4.928261	0.92389	.	.	ENSG00000214338	ENST00000556132;ENST00000368268;ENST00000525778;ENST00000465909	T;T;T;T	0.36340	1.26;1.26;1.26;1.26	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	T	0.45637	0.1352	L	0.51422	1.61	0.80722	D	1	D	0.69078	0.997	P	0.60286	0.872	T	0.43114	-0.9411	10	0.72032	D	0.01	-15.0059	19.4355	0.94792	0.0:0.0:1.0:0.0	.	790	Q5TF21	CF174_HUMAN	C	790	ENSP00000451768:R790C;ENSP00000357251:R790C;ENSP00000434570:R790C;ENSP00000435559:R790C	ENSP00000435559:R790C	R	-	1	0	C6orf174	127838496	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.508000	0.73721	2.593000	0.87608	0.462000	0.41574	CGC		0.701	SOGA3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388246.1	NM_001012279		15	28	0	0	0	1	0	15	28					A	127796803	G	A	127796803	3	1	435	1	0	0	0	0	1	0	0	0	2345	1116	39	2	483	2	C6orf174	6	127796803	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	4196602	127796803	43318264	3313	24238											
C6orf174	387104	broad.mit.edu	37	chr6	127797040	127797040	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gccgctgagctcgttgatctGcaggcgcgccgccttcagct	4	9	13	15	5	2	2	1	2	1	0	3	2	2	2	3	1	3	5	3	1	0	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:127797040G>A	ENST00000525778.1	-	6	2876	c.2131C>T	c.(2131-2133)Cag>Tag	p.Q711*	SOGA3_ENST00000474293.2_5'Flank|SOGA3_ENST00000556132.1_Nonsense_Mutation_p.Q711*|SOGA3_ENST00000465909.2_Nonsense_Mutation_p.Q711*|SOGA3_ENST00000368268.2_Nonsense_Mutation_p.Q711*|SOGA3_ENST00000481848.2_Nonsense_Mutation_p.Q711*			Q5TF21	SOGA3_HUMAN	SOGA family member 3	711					regulation of autophagy (GO:0010506)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)											TCGTTGATCTGCAGGCGCGCC	0.632																																						ENST00000556132.1																			0											c.(2131-2133)Cag>Tag		SOGA family member 3							67	74	71					6																	127797040		2196	4296	6492	SO:0001587	stop_gained	387104					integral to membrane		g.chr6:127797040G>A	AK096490	CCDS43505.1	6q22.33	2013-03-28	2012-02-27	2012-02-27	ENSG00000214338	ENSG00000214338			21494	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 174"	C6orf174			Standard	NM_001012279		Approved	dJ403A15.3	uc003qbd.3	Q5TF21	OTTHUMG00000166438	ENST00000525778.1:c.2131C>T	6.37:g.127797040G>A	ENSP00000434570:p.Gln711*					SOGA3_ENST00000481848.2_Nonsense_Mutation_p.Q711*|SOGA3_ENST00000368268.2_Nonsense_Mutation_p.Q711*|SOGA3_ENST00000525778.1_Nonsense_Mutation_p.Q711*|SOGA3_ENST00000465909.2_Nonsense_Mutation_p.Q711*	p.Q711*	NM_001012279.2	NP_001012279.1	Q5TF21	CF174_HUMAN			6	2995	-			711						Nonsense_Mutation	SNP	ENST00000525778.1	37	c.2131C>T	CCDS43505.1	.	.	.	.	.	.	.	.	.	.	G	47	13.656243	0.99755	.	.	ENSG00000214338	ENST00000556132;ENST00000368268;ENST00000525778;ENST00000465909	.	.	.	5.22	5.22	0.72569	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	-18.5159	18.783	0.91942	0.0:0.0:1.0:0.0	.	.	.	.	X	711	.	ENSP00000435559:Q711X	Q	-	1	0	C6orf174	127838733	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.804000	0.85993	2.445000	0.82738	0.561000	0.74099	CAG		0.632	SOGA3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388246.1	NM_001012279		34	41	0	0	0	1	0	34	41					A	127797040	G	A	127797040	4	1	435	1	0	0	0	0	0	1	0	0	2345	1328	46	3	720	3	C6orf174	6	127797040	Nonsense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	237	127797040	43318027	3314	24239											
C6orf174	387104	broad.mit.edu	37	chr6	127797548	127797548	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttatcaatcttggccattttCtttctcatcaaagcggcttc	8	17	5	11	1	5	0	3	0	3	0	7	0	5	0	1	2	1	1	1	2	3	6			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:127797548C>A	ENST00000525778.1	-	6	2368	c.1623G>T	c.(1621-1623)aaG>aaT	p.K541N	SOGA3_ENST00000474293.2_5'Flank|SOGA3_ENST00000556132.1_Missense_Mutation_p.K541N|SOGA3_ENST00000465909.2_Missense_Mutation_p.K541N|SOGA3_ENST00000368268.2_Missense_Mutation_p.K541N|SOGA3_ENST00000481848.2_Missense_Mutation_p.K541N			Q5TF21	SOGA3_HUMAN	SOGA family member 3	541					regulation of autophagy (GO:0010506)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)											TGGCCATTTTCTTTCTCATCA	0.443																																						ENST00000556132.1																			0											c.(1621-1623)aaG>aaT		SOGA family member 3							97	93	94					6																	127797548		1859	4101	5960	SO:0001583	missense	387104					integral to membrane		g.chr6:127797548C>A	AK096490	CCDS43505.1	6q22.33	2013-03-28	2012-02-27	2012-02-27	ENSG00000214338	ENSG00000214338			21494	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 174"	C6orf174			Standard	NM_001012279		Approved	dJ403A15.3	uc003qbd.3	Q5TF21	OTTHUMG00000166438	ENST00000525778.1:c.1623G>T	6.37:g.127797548C>A	ENSP00000434570:p.Lys541Asn					SOGA3_ENST00000481848.2_Missense_Mutation_p.K541N|SOGA3_ENST00000368268.2_Missense_Mutation_p.K541N|SOGA3_ENST00000525778.1_Missense_Mutation_p.K541N|SOGA3_ENST00000465909.2_Missense_Mutation_p.K541N	p.K541N	NM_001012279.2	NP_001012279.1	Q5TF21	CF174_HUMAN			6	2487	-			541						Missense_Mutation	SNP	ENST00000525778.1	37	c.1623G>T	CCDS43505.1	.	.	.	.	.	.	.	.	.	.	C	15.92	2.975794	0.53720	.	.	ENSG00000214338	ENST00000556132;ENST00000368268;ENST00000525778;ENST00000465909	T;T;T;T	0.22945	1.93;1.93;1.93;1.93	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	T	0.37919	0.1021	L	0.59436	1.845	0.53688	D	0.999975	D	0.76494	0.999	D	0.79108	0.992	T	0.12066	-1.0562	10	0.62326	D	0.03	-29.7902	13.706	0.62639	0.0:0.9265:0.0:0.0735	.	541	Q5TF21	CF174_HUMAN	N	541	ENSP00000451768:K541N;ENSP00000357251:K541N;ENSP00000434570:K541N;ENSP00000435559:K541N	ENSP00000435559:K541N	K	-	3	2	C6orf174	127839241	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.774000	0.38573	2.613000	0.88420	0.561000	0.74099	AAG		0.443	SOGA3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388246.1	NM_001012279		31	76	1	0	9.80977e-26	1	1.09576e-25	31	76					A	127797548	C	A	127797548	3	1	435	1	0	0	0	0	1	0	0	0	2345	912	32	5	1228	5	C6orf174	6	127797548	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	508	127797548	43317519	3315	24240											
THEMIS	387357	broad.mit.edu	37	chr6	128134372	128134372	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctggtgtggcagccaacaCgtcctcttcaatggaaagat	10	10	10	11	1	2	1	1	0	1	1	4	2	4	2	3	3	2	1	3	3	3	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:128134372C>T	ENST00000368248.2	-	4	1562	c.1414G>A	c.(1414-1416)Gtg>Atg	p.V472M	THEMIS_ENST00000368250.1_Missense_Mutation_p.V393M|THEMIS_ENST00000543064.1_Missense_Mutation_p.V472M|THEMIS_ENST00000537166.1_Missense_Mutation_p.V437M	NM_001010923.2	NP_001010923.1	Q8N1K5	THMS1_HUMAN	thymocyte selection associated	472	CABIT 2.				negative T cell selection (GO:0043383)|positive T cell selection (GO:0043368)|T cell receptor signaling pathway (GO:0050852)	cell-cell junction (GO:0005911)|COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.V472L(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(3)	60						GCAGCCAACACGTCCTCTTCA	0.483																																						ENST00000368250.1																			1	Substitution - Missense(1)	p.V472L(1)	lung(1)	breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(3)	60						c.(1177-1179)Gtg>Atg		thymocyte selection associated							75	74	74					6																	128134372		2203	4300	6503	SO:0001583	missense	387357				negative T cell selection|positive T cell selection|T cell receptor signaling pathway	cytoplasm|nucleus		g.chr6:128134372C>T	AK094863	CCDS34534.1, CCDS55055.1	6q22.33	2012-02-08	2009-06-25	2009-06-25	ENSG00000172673	ENSG00000172673			21569	protein-coding gene	gene with protein product	"thymocyte expressed molecule involved in selection"	613607	"chromosome 6 open reading frame 207", "chromosome 6 open reading frame 190", "thymocyte selection pathway associated"	C6orf207, C6orf190, TSEPA		19597499, 19597498, 19597497	Standard	NM_001010923		Approved	bA325O24.4, FLJ40584, bA325O24.3	uc011ebt.2	Q8N1K5	OTTHUMG00000015534	ENST00000368248.2:c.1414G>A	6.37:g.128134372C>T	ENSP00000357231:p.Val472Met					THEMIS_ENST00000537166.1_Missense_Mutation_p.V437M|THEMIS_ENST00000543064.1_Missense_Mutation_p.V472M|THEMIS_ENST00000368248.2_Missense_Mutation_p.V472M	p.V393M			Q8N1K5	THMS1_HUMAN			5	1675	-			472			CABIT 2.		A1L4F0|A8K7N1|B3KT31|B3KW32|B3KY07|F5H1J9|Q5T3C4|Q5T3C5|Q6MZT7	Missense_Mutation	SNP	ENST00000368248.2	37	c.1177G>A	CCDS34534.1	.	.	.	.	.	.	.	.	.	.	C	10.72	1.428873	0.25726	.	.	ENSG00000172673	ENST00000368250;ENST00000543064;ENST00000368248;ENST00000537166	T;T;T;T	0.14266	2.52;2.52;2.52;2.52	5.69	2.02	0.26589	.	0.368838	0.27802	N	0.017786	T	0.08626	0.0214	L	0.40543	1.245	0.22880	N	0.998617	D;D	0.61697	0.99;0.96	P;P	0.55112	0.769;0.543	T	0.11591	-1.0581	10	0.49607	T	0.09	-4.1061	8.9259	0.35641	0.0:0.309:0.0:0.691	.	472;472	F5H1J9;Q8N1K5	.;THMS1_HUMAN	M	393;472;472;437	ENSP00000357233:V393M;ENSP00000439594:V472M;ENSP00000357231:V472M;ENSP00000439863:V437M	ENSP00000357231:V472M	V	-	1	0	THEMIS	128176065	1.000000	0.71417	1.000000	0.80357	0.476000	0.33039	0.540000	0.23191	0.416000	0.25844	-0.471000	0.05019	GTG		0.483	THEMIS-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		NM_001010923		16	29	0	0	0	1	0	16	29					T	128134372	C	T	128134372	3	4	435	1	0	0	0	0	1	0	0	0	15857	536	19	1	644	1	THEMIS	6	128134372	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	336824	128134372	42980695	3316	24241											
PTPRK	5796	broad.mit.edu	37	chr6	128294914	128294914	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttttggatccaggcacttctCgatgagaagcccatcctagg	9	11	10	11	1	1	1	0	1	1	1	4	4	3	2	3	3	1	1	3	3	2	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:128294914C>T	ENST00000368215.3	-	28	4024	c.4025G>A	c.(4024-4026)cGa>cAa	p.R1342Q	PTPRK_ENST00000368227.3_Missense_Mutation_p.R1360Q|PTPRK_ENST00000368210.3_Missense_Mutation_p.R1361Q|PTPRK_ENST00000368207.3_Missense_Mutation_p.R1375Q|PTPRK_ENST00000532331.1_Missense_Mutation_p.R1365Q|PTPRK_ENST00000368213.5_Missense_Mutation_p.R1349Q|PTPRK_ENST00000368226.4_Missense_Mutation_p.R1343Q			Q15262	PTPRK_HUMAN	protein tyrosine phosphatase, receptor type, K	1342	Tyrosine-protein phosphatase 2. {ECO:0000255|PROSITE-ProRule:PRU00160}.				cell adhesion (GO:0007155)|cell migration (GO:0016477)|cellular response to reactive oxygen species (GO:0034614)|cellular response to UV (GO:0034644)|focal adhesion assembly (GO:0048041)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of keratinocyte proliferation (GO:0010839)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|protein localization to cell surface (GO:0034394)|signal transduction (GO:0007165)|transforming growth factor beta receptor signaling pathway (GO:0007179)	axon (GO:0030424)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|leading edge membrane (GO:0031256)|neuronal cell body (GO:0043025)|photoreceptor outer segment (GO:0001750)	beta-catenin binding (GO:0008013)|gamma-catenin binding (GO:0045295)|protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)		PTPRK/RSPO3(10)	autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	72				all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)		AGGCACTTCTCGATGAGAAGC	0.478																																						ENST00000368227.3																		PTPRK/RSPO3(10)	0				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	72						c.(4078-4080)cGa>cAa		protein tyrosine phosphatase, receptor type, K							121	111	114					6																	128294914		2203	4300	6503	SO:0001583	missense	5796				cell migration|cellular response to reactive oxygen species|cellular response to UV|focal adhesion assembly|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of keratinocyte proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transforming growth factor beta receptor signaling pathway	adherens junction|cell surface|cell-cell junction|integral to plasma membrane|leading edge membrane	beta-catenin binding|gamma-catenin binding|protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr6:128294914C>T	L77886	CCDS5137.1, CCDS47473.1, CCDS75517.1	6q22.2-q22.3	2013-02-11			ENSG00000152894	ENSG00000152894		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	9674	protein-coding gene	gene with protein product		602545				9047348, 8663237	Standard	NM_002844		Approved	R-PTP-kappa	uc010kfc.3	Q15262	OTTHUMG00000015536	ENST00000368215.3:c.4025G>A	6.37:g.128294914C>T	ENSP00000357198:p.Arg1342Gln					PTPRK_ENST00000532331.1_Missense_Mutation_p.R1365Q|PTPRK_ENST00000368207.3_Missense_Mutation_p.R1375Q|PTPRK_ENST00000368226.4_Missense_Mutation_p.R1343Q|PTPRK_ENST00000368215.3_Missense_Mutation_p.R1342Q|PTPRK_ENST00000368213.5_Missense_Mutation_p.R1349Q|PTPRK_ENST00000368210.3_Missense_Mutation_p.R1361Q	p.R1360Q			Q15262	PTPRK_HUMAN		all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)	29	4445	-			1342			Tyrosine-protein phosphatase 2.		B2RTQ8|B7ZMG0|Q14763|Q5TG10|Q5TG11	Missense_Mutation	SNP	ENST00000368215.3	37	c.4079G>A		.	.	.	.	.	.	.	.	.	.	C	23.3	4.399475	0.83120	.	.	ENSG00000152894	ENST00000368226;ENST00000368227;ENST00000532331;ENST00000368213;ENST00000368210;ENST00000368215;ENST00000368207	T;T;T;T;T;T;T	0.13657	2.57;2.57;2.57;2.57;2.57;2.57;2.57	5.82	5.82	0.92795	Protein-tyrosine phosphatase, receptor/non-receptor type (3);	0.000000	0.85682	D	0.000000	T	0.12603	0.0306	N	0.21142	0.635	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;0.998;0.998	D;D;D;D	0.91635	0.999;0.999;0.992;0.986	T	0.01363	-1.1374	10	0.02654	T	1	.	20.0789	0.97764	0.0:1.0:0.0:0.0	.	1365;1349;1342;1343	B7ZMG0;Q15262-3;Q15262;Q15262-2	.;.;PTPRK_HUMAN;.	Q	1343;1360;1365;1349;1361;1342;1375	ENSP00000357209:R1343Q;ENSP00000357210:R1360Q;ENSP00000432973:R1365Q;ENSP00000357196:R1349Q;ENSP00000357193:R1361Q;ENSP00000357198:R1342Q;ENSP00000357190:R1375Q	ENSP00000357190:R1375Q	R	-	2	0	PTPRK	128336607	1.000000	0.71417	0.999000	0.59377	0.989000	0.77384	7.773000	0.85462	2.750000	0.94351	0.655000	0.94253	CGA		0.478	PTPRK-005	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000042163.1			50	58	0	0	0	1	0	50	58					T	128294914	C	T	128294914	3	4	435	1	0	0	0	0	1	0	0	0	12805	884	31	2	306	2	PTPRK	6	128294914	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	160542	128294914	42820153	3317	24242											
PTPRK	5796	broad.mit.edu	37	chr6	128304058	128304058	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgcagctttaaattcacagAcaggtatggcagtttctcca	12	12	8	9	0	2	1	1	0	1	1	3	1	2	1	1	2	2	5	1	2	3	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:128304058A>G	ENST00000368215.3	-	24	3451	c.3452T>C	c.(3451-3453)gTc>gCc	p.V1151A	PTPRK_ENST00000368227.3_Missense_Mutation_p.V1169A|PTPRK_ENST00000368210.3_Missense_Mutation_p.V1170A|PTPRK_ENST00000368207.3_Missense_Mutation_p.V1184A|PTPRK_ENST00000532331.1_Missense_Mutation_p.V1174A|PTPRK_ENST00000368213.5_Missense_Mutation_p.V1158A|PTPRK_ENST00000368226.4_Missense_Mutation_p.V1152A			Q15262	PTPRK_HUMAN	protein tyrosine phosphatase, receptor type, K	1151					cell adhesion (GO:0007155)|cell migration (GO:0016477)|cellular response to reactive oxygen species (GO:0034614)|cellular response to UV (GO:0034644)|focal adhesion assembly (GO:0048041)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of keratinocyte proliferation (GO:0010839)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|protein localization to cell surface (GO:0034394)|signal transduction (GO:0007165)|transforming growth factor beta receptor signaling pathway (GO:0007179)	axon (GO:0030424)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|leading edge membrane (GO:0031256)|neuronal cell body (GO:0043025)|photoreceptor outer segment (GO:0001750)	beta-catenin binding (GO:0008013)|gamma-catenin binding (GO:0045295)|protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)		PTPRK/RSPO3(10)	autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	72				all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)		AAATTCACAGACAGGTATGGC	0.323																																						ENST00000368227.3																		PTPRK/RSPO3(10)	0				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	72						c.(3505-3507)gTc>gCc		protein tyrosine phosphatase, receptor type, K							95	101	99					6																	128304058		2203	4300	6503	SO:0001583	missense	5796				cell migration|cellular response to reactive oxygen species|cellular response to UV|focal adhesion assembly|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of keratinocyte proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transforming growth factor beta receptor signaling pathway	adherens junction|cell surface|cell-cell junction|integral to plasma membrane|leading edge membrane	beta-catenin binding|gamma-catenin binding|protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr6:128304058A>G	L77886	CCDS5137.1, CCDS47473.1, CCDS75517.1	6q22.2-q22.3	2013-02-11			ENSG00000152894	ENSG00000152894		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	9674	protein-coding gene	gene with protein product		602545				9047348, 8663237	Standard	NM_002844		Approved	R-PTP-kappa	uc010kfc.3	Q15262	OTTHUMG00000015536	ENST00000368215.3:c.3452T>C	6.37:g.128304058A>G	ENSP00000357198:p.Val1151Ala					PTPRK_ENST00000532331.1_Missense_Mutation_p.V1174A|PTPRK_ENST00000368207.3_Missense_Mutation_p.V1184A|PTPRK_ENST00000368226.4_Missense_Mutation_p.V1152A|PTPRK_ENST00000368215.3_Missense_Mutation_p.V1151A|PTPRK_ENST00000368213.5_Missense_Mutation_p.V1158A|PTPRK_ENST00000368210.3_Missense_Mutation_p.V1170A	p.V1169A			Q15262	PTPRK_HUMAN		all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)	25	3872	-			1151					B2RTQ8|B7ZMG0|Q14763|Q5TG10|Q5TG11	Missense_Mutation	SNP	ENST00000368215.3	37	c.3506T>C		.	.	.	.	.	.	.	.	.	.	A	5.214	0.225082	0.09916	.	.	ENSG00000152894	ENST00000368226;ENST00000368227;ENST00000532331;ENST00000368213;ENST00000368210;ENST00000368215;ENST00000368207	T;T;T;T;T;T;T	0.27557	1.66;1.66;1.66;1.66;1.66;1.66;1.66	5.78	4.63	0.57726	.	0.120851	0.56097	N	0.000033	T	0.05914	0.0154	N	0.13098	0.295	0.80722	D	1	B;B;B;B	0.15473	0.008;0.013;0.002;0.003	B;B;B;B	0.24269	0.023;0.052;0.008;0.018	T	0.19031	-1.0318	10	0.02654	T	1	.	11.6729	0.51413	0.9307:0.0:0.0693:0.0	.	1174;1158;1151;1152	B7ZMG0;Q15262-3;Q15262;Q15262-2	.;.;PTPRK_HUMAN;.	A	1152;1169;1174;1158;1170;1151;1184	ENSP00000357209:V1152A;ENSP00000357210:V1169A;ENSP00000432973:V1174A;ENSP00000357196:V1158A;ENSP00000357193:V1170A;ENSP00000357198:V1151A;ENSP00000357190:V1184A	ENSP00000357190:V1184A	V	-	2	0	PTPRK	128345751	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.713000	0.61895	1.025000	0.39708	0.477000	0.44152	GTC		0.323	PTPRK-005	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000042163.1			25	50	0	0	0	1	0	25	50					G	128304058	A	G	128304058	3	3	435	1	0	0	0	0	1	0	0	0	12805	275	10	4	895	4	PTPRK	6	128304058	Missense_Mutation	SNP	A	TCGA-XK-AAIW-01A-11D-A41K-08	9144	128304058	42811009	3318	24243											
LAMA2	3908	broad.mit.edu	37	chr6	129837346	129837346	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctttttcagatgacctcaagCagtttggcctaacaaccagt	11	12	7	11	0	2	2	2	1	0	1	2	2	2	2	3	1	3	2	3	1	3	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:129837346C>T	ENST00000421865.2	+	65	9272	c.9223C>T	c.(9223-9225)Cag>Tag	p.Q3075*		NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	3075	Laminin G-like 5. {ECO:0000255|PROSITE- ProRule:PRU00122}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|myelination in peripheral nervous system (GO:0022011)|positive regulation of synaptic transmission, cholinergic (GO:0032224)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|sarcolemma (GO:0042383)	structural molecule activity (GO:0005198)			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		TGACCTCAAGCAGTTTGGCCT	0.463																																						ENST00000421865.2																			0				NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194						c.(9223-9225)Cag>Tag		laminin, alpha 2							192	188	189					6																	129837346		2203	4300	6503	SO:0001587	stop_gained	3908				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	g.chr6:129837346C>T	Z26653	CCDS5138.1	6q22-q23	2014-09-17	2008-08-01		ENSG00000196569	ENSG00000196569		"Laminins"	6482	protein-coding gene	gene with protein product	"merosin", "congenital muscular dystrophy"	156225		LAMM		2185464, 8294519	Standard	NM_000426		Approved		uc003qbn.3	P24043	OTTHUMG00000015545	ENST00000421865.2:c.9223C>T	6.37:g.129837346C>T	ENSP00000400365:p.Gln3075*						p.Q3075*	NM_000426.3|NM_001079823.1	NP_000417.2|NP_001073291.1	P24043	LAMA2_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)	65	9272	+			3075			Laminin G-like 5.		Q14736|Q5VUM2|Q93022	Nonsense_Mutation	SNP	ENST00000421865.2	37	c.9223C>T	CCDS5138.1	.	.	.	.	.	.	.	.	.	.	C	50	16.459293	0.99864	.	.	ENSG00000196569	ENST00000358023;ENST00000354729;ENST00000421865;ENST00000443169	.	.	.	5.79	5.79	0.91817	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.0371	0.97565	0.0:1.0:0.0:0.0	.	.	.	.	X	3075;3074;3075;1093	.	.	Q	+	1	0	LAMA2	129879039	1.000000	0.71417	1.000000	0.80357	0.820000	0.46376	7.369000	0.79578	2.734000	0.93682	0.655000	0.94253	CAG		0.463	LAMA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042180.1			57	112	0	0	0	1	0	57	112					T	129837346	C	T	129837346	4	4	435	1	0	0	0	0	0	1	0	0	8606	711	25	3	9481	3	LAMA2	6	129837346	Nonsense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	1533288	129837346	41277721	3319	24244											
ARHGAP18	93663	broad.mit.edu	37	chr6	129899715	129899715	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gggttaagctgatataaatcCttcatgtaagtgtcatcatc	12	14	8	7	0	3	1	3	1	0	0	5	1	4	1	1	1	1	3	1	1	5	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:129899715C>A	ENST00000368149.2	-	15	2023	c.1935G>T	c.(1933-1935)aaG>aaT	p.K645N	ARHGAP18_ENST00000463225.1_5'UTR	NM_033515.2	NP_277050.2			Rho GTPase activating protein 18											NS(2)|endometrium(1)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(3)	18				OV - Ovarian serous cystadenocarcinoma(136;0.0621)|GBM - Glioblastoma multiforme(226;0.0638)|all cancers(137;0.074)		GATATAAATCCTTCATGTAAG	0.373																																						ENST00000368149.2																			0				NS(2)|endometrium(1)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(3)	18						c.(1933-1935)aaG>aaT		Rho GTPase activating protein 18							161	146	151					6																	129899715		2203	4300	6503	SO:0001583	missense	93663				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding	g.chr6:129899715C>A	AB053293	CCDS34535.1	6q23.1	2011-06-29			ENSG00000146376	ENSG00000146376		"Rho GTPase activating proteins"	21035	protein-coding gene	gene with protein product		613351					Standard	NM_033515		Approved	MacGAP, bA307O14.2	uc003qbr.3	Q8N392	OTTHUMG00000015547	ENST00000368149.2:c.1935G>T	6.37:g.129899715C>A	ENSP00000357131:p.Lys645Asn					ARHGAP18_ENST00000463225.1_5'UTR	p.K645N	NM_033515.2	NP_277050.2	Q8N392	RHG18_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.0621)|GBM - Glioblastoma multiforme(226;0.0638)|all cancers(137;0.074)	15	2023	-			645						Missense_Mutation	SNP	ENST00000368149.2	37	c.1935G>T	CCDS34535.1	.	.	.	.	.	.	.	.	.	.	C	18.35	3.605792	0.66445	.	.	ENSG00000146376	ENST00000368149;ENST00000275189	T	0.08102	3.13	6.01	6.01	0.97437	.	0.000000	0.85682	D	0.000000	T	0.06416	0.0165	M	0.70595	2.14	0.54753	D	0.999985	B	0.32101	0.356	B	0.32090	0.14	T	0.09400	-1.0676	9	.	.	.	.	13.6832	0.62499	0.0:0.9299:0.0:0.0701	.	645	Q8N392	RHG18_HUMAN	N	600;645	ENSP00000357131:K600N	.	K	-	3	2	ARHGAP18	129941408	1.000000	0.71417	1.000000	0.80357	0.904000	0.53231	1.981000	0.40628	2.861000	0.98227	0.650000	0.86243	AAG		0.373	ARHGAP18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042185.2	NM_033515		38	54	1	0	4.17593e-13	1	4.53019e-13	38	54					A	129899715	C	A	129899715	3	1	435	1	0	0	0	0	1	0	0	0	868	680	24	5	60	5	ARHGAP18	6	129899715	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	62369	129899715	41215352	3320	24245											
L3MBTL3	84456	broad.mit.edu	37	chr6	130376384	130376384	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aggaaaagacgaggggattcGgctgtactaaagcagggtga	14	6	16	5	2	0	2	0	1	0	1	1	5	0	4	0	5	2	3	0	5	5	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:130376384G>A	ENST00000529410.1	+	10	1130	c.651G>A	c.(649-651)tcG>tcA	p.S217S	L3MBTL3_ENST00000526019.1_Silent_p.S192S|L3MBTL3_ENST00000361794.2_Silent_p.S217S|L3MBTL3_ENST00000533560.1_Silent_p.S192S|L3MBTL3_ENST00000368139.2_Silent_p.S192S|L3MBTL3_ENST00000368136.2_Silent_p.S217S			Q96JM7	LMBL3_HUMAN	l(3)mbt-like 3 (Drosophila)	217					chromatin modification (GO:0016568)|erythrocyte maturation (GO:0043249)|granulocyte differentiation (GO:0030851)|macrophage differentiation (GO:0030225)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)		p.S217S(1)		cervix(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|skin(4)|stomach(1)|urinary_tract(1)	43				GBM - Glioblastoma multiforme(226;0.0266)|OV - Ovarian serous cystadenocarcinoma(155;0.154)		GAGGGGATTCGGCTGTACTAA	0.393																																						ENST00000529410.1																			1	Substitution - coding silent(1)	p.S217S(1)	ovary(1)	cervix(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|skin(4)|stomach(1)|urinary_tract(1)	43						c.(649-651)tcG>tcA		l(3)mbt-like 3 (Drosophila)							108	114	112					6																	130376384		2203	4300	6503	SO:0001819	synonymous_variant	84456				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chr6:130376384G>A	AB058701	CCDS34537.1, CCDS34538.1	6q23	2013-01-10			ENSG00000198945	ENSG00000198945		"Sterile alpha motif (SAM) domain containing"	23035	protein-coding gene	gene with protein product							Standard	NM_032438		Approved	KIAA1798	uc003qbt.3	Q96JM7	OTTHUMG00000015554	ENST00000529410.1:c.651G>A	6.37:g.130376384G>A						L3MBTL3_ENST00000368139.2_Silent_p.S192S|L3MBTL3_ENST00000368136.2_Silent_p.S217S|L3MBTL3_ENST00000361794.2_Silent_p.S217S|L3MBTL3_ENST00000533560.1_Silent_p.S192S|L3MBTL3_ENST00000526019.1_Silent_p.S192S	p.S217S			Q96JM7	LMBL3_HUMAN		GBM - Glioblastoma multiforme(226;0.0266)|OV - Ovarian serous cystadenocarcinoma(155;0.154)	10	1130	+			217					Q4VXE1|Q5VUM9|Q6P9B5	Silent	SNP	ENST00000529410.1	37	c.651G>A	CCDS34537.1																																																																																				0.393	L3MBTL3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042195.2	XM_027074		11	8	0	0	0	1	0	11	8					A	130376384	G	A	130376384	2	1	435	1	0	0	0	0	0	0	0	1	8593	1103	39	2		2	L3MBTL3	6	130376384	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	476669	130376384	40738683	3321	24246											
L3MBTL3	84456	broad.mit.edu	37	chr6	130387534	130387534	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	taaagcttcactttgatgggTattctgattgctatgacttc	9	17	8	7	0	2	3	1	3	1	0	3	3	2	3	0	1	2	3	0	1	4	8			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:130387534T>C	ENST00000529410.1	+	13	1380	c.901T>C	c.(901-903)Tat>Cat	p.Y301H	L3MBTL3_ENST00000526019.1_Missense_Mutation_p.Y276H|L3MBTL3_ENST00000361794.2_Missense_Mutation_p.Y301H|L3MBTL3_ENST00000533560.1_Missense_Mutation_p.Y276H|L3MBTL3_ENST00000368139.2_Missense_Mutation_p.Y276H|L3MBTL3_ENST00000368136.2_Missense_Mutation_p.Y301H			Q96JM7	LMBL3_HUMAN	l(3)mbt-like 3 (Drosophila)	301					chromatin modification (GO:0016568)|erythrocyte maturation (GO:0043249)|granulocyte differentiation (GO:0030851)|macrophage differentiation (GO:0030225)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				cervix(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|skin(4)|stomach(1)|urinary_tract(1)	43				GBM - Glioblastoma multiforme(226;0.0266)|OV - Ovarian serous cystadenocarcinoma(155;0.154)		CTTTGATGGGTATTCTGATTG	0.388																																						ENST00000529410.1																			0				cervix(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|skin(4)|stomach(1)|urinary_tract(1)	43						c.(901-903)Tat>Cat		l(3)mbt-like 3 (Drosophila)							85	84	84					6																	130387534		2203	4300	6503	SO:0001583	missense	84456				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chr6:130387534T>C	AB058701	CCDS34537.1, CCDS34538.1	6q23	2013-01-10			ENSG00000198945	ENSG00000198945		"Sterile alpha motif (SAM) domain containing"	23035	protein-coding gene	gene with protein product							Standard	NM_032438		Approved	KIAA1798	uc003qbt.3	Q96JM7	OTTHUMG00000015554	ENST00000529410.1:c.901T>C	6.37:g.130387534T>C	ENSP00000431962:p.Tyr301His					L3MBTL3_ENST00000368139.2_Missense_Mutation_p.Y276H|L3MBTL3_ENST00000368136.2_Missense_Mutation_p.Y301H|L3MBTL3_ENST00000361794.2_Missense_Mutation_p.Y301H|L3MBTL3_ENST00000533560.1_Missense_Mutation_p.Y276H|L3MBTL3_ENST00000526019.1_Missense_Mutation_p.Y276H	p.Y301H			Q96JM7	LMBL3_HUMAN		GBM - Glioblastoma multiforme(226;0.0266)|OV - Ovarian serous cystadenocarcinoma(155;0.154)	13	1380	+			301					Q4VXE1|Q5VUM9|Q6P9B5	Missense_Mutation	SNP	ENST00000529410.1	37	c.901T>C	CCDS34537.1	.	.	.	.	.	.	.	.	.	.	T	26.3	4.722324	0.89298	.	.	ENSG00000198945	ENST00000529410;ENST00000533560;ENST00000361794;ENST00000368139;ENST00000526019;ENST00000368136	T;T;T;T;T;T	0.47177	0.85;0.85;0.85;0.85;0.85;0.85	5.62	5.62	0.85841	.	0.056978	0.64402	D	0.000001	T	0.71204	0.3312	M	0.92555	3.32	0.58432	D	0.999999	D;D	0.89917	0.997;1.0	D;D	0.87578	0.978;0.998	T	0.77838	-0.2439	10	0.51188	T	0.08	.	16.1075	0.81236	0.0:0.0:0.0:1.0	.	276;301	Q96JM7-2;Q96JM7	.;LMBL3_HUMAN	H	301;276;301;276;276;301	ENSP00000431962:Y301H;ENSP00000437185:Y276H;ENSP00000354526:Y301H;ENSP00000357121:Y276H;ENSP00000436706:Y276H;ENSP00000357118:Y301H	ENSP00000354526:Y301H	Y	+	1	0	L3MBTL3	130429227	1.000000	0.71417	0.887000	0.34795	0.948000	0.59901	6.259000	0.72494	2.257000	0.74773	0.454000	0.30748	TAT		0.388	L3MBTL3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042195.2	XM_027074		30	45	0	0	0	1	0	30	45					C	130387534	T	C	130387534	3	2	435	1	0	0	0	0	1	0	0	0	8593	1638	57	4	935	4	L3MBTL3	6	130387534	Missense_Mutation	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	11150	130387534	40727533	3322	24247											
TMEM200A	114801	broad.mit.edu	37	chr6	130761877	130761877	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgtcaacaaatgaaactcagGtcattcggaatgaaggcggt	14	9	11	7	2	3	2	3	2	0	0	4	3	3	3	0	4	2	0	0	4	5	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:130761877G>A	ENST00000296978.3	+	3	1181	c.310G>A	c.(310-312)Gtc>Atc	p.V104I	TMEM200A_ENST00000392429.1_Missense_Mutation_p.V104I|TMEM200A_ENST00000545622.1_Missense_Mutation_p.V104I	NM_001258276.1|NM_001258277.1|NM_001258278.1	NP_001245205.1|NP_001245206.1|NP_001245207.1	Q86VY9	T200A_HUMAN	transmembrane protein 200A	104						integral component of membrane (GO:0016021)				NS(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(30)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52				GBM - Glioblastoma multiforme(226;0.0139)|OV - Ovarian serous cystadenocarcinoma(155;0.12)		TGAAACTCAGGTCATTCGGAA	0.428																																						ENST00000392429.1																			0				NS(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(30)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						c.(310-312)Gtc>Atc		transmembrane protein 200A							106	94	98					6																	130761877		2203	4300	6503	SO:0001583	missense	114801					integral to membrane		g.chr6:130761877G>A	AB067500	CCDS5140.1	6q23.1	2009-09-04	2007-12-18	2007-12-18	ENSG00000164484	ENSG00000164484			21075	protein-coding gene	gene with protein product			"KIAA1913"	KIAA1913		15722956	Standard	NM_001258276		Approved	TTMC	uc010kfh.4	Q86VY9	OTTHUMG00000015557	ENST00000296978.3:c.310G>A	6.37:g.130761877G>A	ENSP00000296978:p.Val104Ile					TMEM200A_ENST00000545622.1_Missense_Mutation_p.V104I|TMEM200A_ENST00000296978.3_Missense_Mutation_p.V104I	p.V104I	NM_052913.2	NP_443145.1	Q86VY9	T200A_HUMAN		GBM - Glioblastoma multiforme(226;0.0139)|OV - Ovarian serous cystadenocarcinoma(155;0.12)	2	2688	+			104					Q96PX5	Missense_Mutation	SNP	ENST00000296978.3	37	c.310G>A	CCDS5140.1	.	.	.	.	.	.	.	.	.	.	G	10.35	1.324691	0.24080	.	.	ENSG00000164484	ENST00000296978;ENST00000545622;ENST00000392429	.	.	.	5.46	5.46	0.80206	.	0.446316	0.23579	N	0.046664	T	0.09905	0.0243	N	0.19112	0.55	0.24577	N	0.993893	P	0.37914	0.611	B	0.31946	0.138	T	0.06499	-1.0823	9	0.35671	T	0.21	-19.3172	10.8058	0.46516	0.1465:0.0:0.8535:0.0	.	104	Q86VY9	T200A_HUMAN	I	104	.	ENSP00000296978:V104I	V	+	1	0	TMEM200A	130803570	0.988000	0.35896	1.000000	0.80357	0.872000	0.50106	2.988000	0.49386	2.547000	0.85894	0.655000	0.94253	GTC		0.428	TMEM200A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042201.1	NM_052913		32	72	0	0	0	1	0	32	72					A	130761877	G	A	130761877	3	1	435	1	0	0	0	0	1	0	0	0	16120	1261	44	3	312	3	TMEM200A	6	130761877	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	374343	130761877	40353190	3323	24248											
EPB41L2	2037	broad.mit.edu	37	chr6	131222276	131222276	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcacaaaagagcagggcaggCggccagaggcaatgtcctgc	12	4	14	11	1	1	2	1	0	0	2	2	2	2	2	2	4	2	3	2	4	3	0	rs375486728		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:131222276C>T	ENST00000337057.3	-	7	1155	c.974G>A	c.(973-975)cGc>cAc	p.R325H	EPB41L2_ENST00000529208.1_Missense_Mutation_p.R325H|EPB41L2_ENST00000530148.1_5'UTR|EPB41L2_ENST00000525193.1_Missense_Mutation_p.R325H|EPB41L2_ENST00000527411.1_Missense_Mutation_p.R325H|EPB41L2_ENST00000368128.2_Missense_Mutation_p.R325H|EPB41L2_ENST00000527659.1_Missense_Mutation_p.R325H|EPB41L2_ENST00000530481.1_Missense_Mutation_p.R325H|EPB41L2_ENST00000392427.3_Missense_Mutation_p.R325H|EPB41L2_ENST00000445890.2_Missense_Mutation_p.R325H|EPB41L2_ENST00000525271.1_Missense_Mutation_p.R325H|EPB41L2_ENST00000528282.1_Missense_Mutation_p.R325H	NM_001431.3	NP_001422.1	O43491	E41L2_HUMAN	erythrocyte membrane protein band 4.1-like 2	325	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				cortical actin cytoskeleton organization (GO:0030866)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|spectrin (GO:0008091)	structural molecule activity (GO:0005198)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(23)|prostate(1)|skin(2)	44	Breast(56;0.0639)			OV - Ovarian serous cystadenocarcinoma(155;0.0271)|GBM - Glioblastoma multiforme(226;0.0355)		GCAGGGCAGGCGGCCAGAGGC	0.552																																						ENST00000337057.3																			0				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(23)|prostate(1)|skin(2)	44						c.(973-975)cGc>cAc		erythrocyte membrane protein band 4.1-like 2		C	HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	94	93	93		974,974,974,974,974	3.5	1	6		93	0,8600		0,0,4300	no	missense,missense,missense,missense,missense	EPB41L2	NM_001431.3,NM_001199389.1,NM_001199388.1,NM_001135555.2,NM_001135554.1	29,29,29,29,29	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign,benign,benign,benign,benign	325/1006,325/853,325/853,325/674,325/674	131222276	1,13005	2203	4300	6503	SO:0001583	missense	2037				cortical actin cytoskeleton organization	extrinsic to membrane|plasma membrane|spectrin	actin binding|structural molecule activity	g.chr6:131222276C>T	AF027299	CCDS5141.1, CCDS47474.1, CCDS56450.1, CCDS59037.1	6q23	2008-08-29			ENSG00000079819	ENSG00000079819			3379	protein-coding gene	gene with protein product		603237				9598318, 9828140	Standard	NM_001431		Approved	4.1-G	uc003qch.2	O43491	OTTHUMG00000015560	ENST00000337057.3:c.974G>A	6.37:g.131222276C>T	ENSP00000338481:p.Arg325His					EPB41L2_ENST00000530481.1_Missense_Mutation_p.R325H|EPB41L2_ENST00000368128.2_Missense_Mutation_p.R325H|EPB41L2_ENST00000525193.1_Missense_Mutation_p.R325H|EPB41L2_ENST00000527411.1_Missense_Mutation_p.R325H|EPB41L2_ENST00000528282.1_Missense_Mutation_p.R325H|EPB41L2_ENST00000392427.3_Missense_Mutation_p.R325H|EPB41L2_ENST00000529208.1_Missense_Mutation_p.R325H|EPB41L2_ENST00000527659.1_Missense_Mutation_p.R325H|EPB41L2_ENST00000525271.1_Missense_Mutation_p.R325H|EPB41L2_ENST00000530148.1_5'UTR|EPB41L2_ENST00000445890.2_Missense_Mutation_p.R325H	p.R325H	NM_001431.3	NP_001422.1	O43491	E41L2_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.0271)|GBM - Glioblastoma multiforme(226;0.0355)	7	1155	-	Breast(56;0.0639)		325			FERM.		B4DHI8|E9PPD9|Q5T4F0|Q68DV2	Missense_Mutation	SNP	ENST00000337057.3	37	c.974G>A	CCDS5141.1	.	.	.	.	.	.	.	.	.	.	C	18.36	3.606867	0.66558	2.27E-4	0.0	ENSG00000079819	ENST00000528282;ENST00000530481;ENST00000445890;ENST00000337057;ENST00000392427;ENST00000425439;ENST00000368128;ENST00000527411;ENST00000525271;ENST00000525193;ENST00000527659;ENST00000529208	T;T;T;T;T;T;T;T;T;T;T	0.80214	-1.35;-1.35;-1.35;-1.35;-1.35;-1.35;-1.35;-1.35;-1.35;-1.35;-1.35	5.33	3.45	0.39498	Band 4.1 domain (1);FERM central domain (2);FERM domain (1);FERM/acyl-CoA-binding protein, 3-helical bundle (1);	0.051250	0.85682	N	0.000000	T	0.74336	0.3703	M	0.90309	3.105	0.80722	D	1	B;B;B;B;B	0.23990	0.095;0.025;0.025;0.091;0.025	B;B;B;B;B	0.22601	0.019;0.006;0.006;0.04;0.006	T	0.75187	-0.3406	10	0.72032	D	0.01	.	9.7394	0.40409	0.1375:0.7854:0.0:0.0771	.	325;325;325;325;325	E9PHY5;B4DHI8;E9PPD9;O43491;Q68DV2	.;.;.;E41L2_HUMAN;.	H	325	ENSP00000434308:R325H;ENSP00000434576:R325H;ENSP00000402041:R325H;ENSP00000338481:R325H;ENSP00000376222:R325H;ENSP00000357110:R325H;ENSP00000436348:R325H;ENSP00000432803:R325H;ENSP00000431988:R325H;ENSP00000431647:R325H;ENSP00000436641:R325H	ENSP00000338481:R325H	R	-	2	0	EPB41L2	131263969	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.941000	0.63540	0.669000	0.31146	-0.345000	0.07892	CGC		0.552	EPB41L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042204.3			19	31	0	0	0	1	0	19	31					T	131222276	C	T	131222276	3	4	435	1	0	0	0	0	1	0	0	0	5153	768	27	1	2095	1	EPB41L2	6	131222276	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	460399	131222276	39892791	3324	24249											
ARG1	383	broad.mit.edu	37	chr6	131904532	131904532	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atctaagttttgatgttgacGgactggacccatctttcaca	10	14	8	9	1	3	2	1	2	2	0	3	4	3	4	1	2	0	2	1	2	1	5	rs104893948		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:131904532G>A	ENST00000368087.3	+	7	842	c.703G>A	c.(703-705)Gga>Aga	p.G235R	MED23_ENST00000354577.4_Intron|ARG1_ENST00000356962.2_Missense_Mutation_p.G243R			P05089	ARGI1_HUMAN	arginase 1	235			G -> R (in ARGIN). {ECO:0000269|PubMed:1463019}.		arginine catabolic process (GO:0006527)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to glucagon stimulus (GO:0071377)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to interleukin-4 (GO:0071353)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to transforming growth factor beta stimulus (GO:0071560)|collagen biosynthetic process (GO:0032964)|liver development (GO:0001889)|lung development (GO:0030324)|mammary gland involution (GO:0060056)|maternal process involved in female pregnancy (GO:0060135)|positive regulation of endothelial cell proliferation (GO:0001938)|protein homotrimerization (GO:0070207)|regulation of L-arginine import (GO:0010963)|response to amine (GO:0014075)|response to amino acid (GO:0043200)|response to axon injury (GO:0048678)|response to cadmium ion (GO:0046686)|response to drug (GO:0042493)|response to herbicide (GO:0009635)|response to manganese ion (GO:0010042)|response to methylmercury (GO:0051597)|response to selenium ion (GO:0010269)|response to vitamin A (GO:0033189)|response to vitamin E (GO:0033197)|response to zinc ion (GO:0010043)|small molecule metabolic process (GO:0044281)|urea cycle (GO:0000050)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	arginase activity (GO:0004053)|manganese ion binding (GO:0030145)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(1)|skin(3)	14	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0106)|OV - Ovarian serous cystadenocarcinoma(155;0.0713)	L-Ornithine(DB00129)	TGATGTTGACGGACTGGACCC	0.408																																						ENST00000368087.3																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(1)|skin(3)	14	GRCh37	CM920105|CM962599	ARG1	M	rs104893948	c.(703-705)Gga>Aga		arginase 1	L-Ornithine(DB00129)						118	113	115					6																	131904532		2203	4300	6503	SO:0001583	missense	383				arginine catabolic process|urea cycle	cytosol	arginase activity	g.chr6:131904532G>A		CCDS5145.1, CCDS59038.1	6q23	2013-05-01	2013-05-01		ENSG00000118520	ENSG00000118520	3.5.3.1		663	protein-coding gene	gene with protein product		608313	"arginase, liver"			22959135	Standard	NM_000045		Approved		uc003qcp.2	P05089	OTTHUMG00000015566	ENST00000368087.3:c.703G>A	6.37:g.131904532G>A	ENSP00000357066:p.Gly235Arg					ARG1_ENST00000476845.1_Intron|ARG1_ENST00000356962.2_Missense_Mutation_p.G243R|MED23_ENST00000354577.4_Intron	p.G235R			P05089	ARGI1_HUMAN		GBM - Glioblastoma multiforme(226;0.0106)|OV - Ovarian serous cystadenocarcinoma(155;0.0713)	7	842	+	Breast(56;0.0753)		235		G -> R (in ARGIN).			A6NEA0|Q5JWT5|Q5JWT6|Q8TE72|Q9BS50	Missense_Mutation	SNP	ENST00000368087.3	37	c.703G>A	CCDS5145.1	.	.	.	.	.	.	.	.	.	.	G	35	5.464206	0.96257	.	.	ENSG00000118520	ENST00000368087;ENST00000356962	D;D	0.85088	-1.94;-1.94	6.02	6.02	0.97574	Ureohydrolase domain (1);	0.048503	0.85682	D	0.000000	D	0.91415	0.7291	M	0.80847	2.515	0.80722	D	1	D;D	0.76494	0.999;0.999	P;D	0.64595	0.88;0.927	D	0.91699	0.5372	10	0.87932	D	0	-20.6168	18.0345	0.89296	0.0:0.0:1.0:0.0	.	243;235	P05089-2;P05089	.;ARGI1_HUMAN	R	235;243	ENSP00000357066:G235R;ENSP00000349446:G243R	ENSP00000349446:G243R	G	+	1	0	ARG1	131946225	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.260000	0.78391	2.865000	0.98341	0.655000	0.94253	GGA		0.408	ARG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042223.1			49	79	0	0	0	1	0	49	79					A	131904532	G	A	131904532	3	1	435	1	0	0	0	0	1	0	0	0	857	1117	39	2	729	2	ARG1	6	131904532	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	682256	131904532	39210535	3325	24250											
MED23	9439	broad.mit.edu	37	chr6	131921245	131921245	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gaggagtgaaactcatgatgGtctgaagtatgtctttacac	12	12	11	6	0	3	3	1	3	2	0	3	5	3	4	0	2	2	1	0	2	4	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:131921245G>A	ENST00000368068.3	-	18	2332	c.2153C>T	c.(2152-2154)aCc>aTc	p.T718I	MED23_ENST00000368053.4_Missense_Mutation_p.T724I|MED23_ENST00000368058.1_Missense_Mutation_p.T724I|MED23_ENST00000354577.4_Missense_Mutation_p.T724I|MED23_ENST00000545957.1_Missense_Mutation_p.T359I|MED23_ENST00000540546.1_Missense_Mutation_p.T724I|MED23_ENST00000368060.3_Missense_Mutation_p.T718I|MED23_ENST00000403834.3_Missense_Mutation_p.T724I	NM_004830.3	NP_004821.2	Q9ULK4	MED23_HUMAN	mediator complex subunit 23	718					gene expression (GO:0010467)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	transcription coactivator activity (GO:0003713)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(12)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	44	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0115)|OV - Ovarian serous cystadenocarcinoma(155;0.0608)		ACTCATGATGGTCTGAAGTAT	0.363																																						ENST00000403834.3																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(12)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	44						c.(2170-2172)aCc>aTc		mediator complex subunit 23							102	100	101					6																	131921245		2203	4300	6503	SO:0001583	missense	9439				regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	transcription factor complex	protein binding|transcription coactivator activity	g.chr6:131921245G>A	AF104255	CCDS5146.1, CCDS5147.1, CCDS59039.1	6q22.33-q24.1	2008-02-05	2007-08-08	2007-07-30	ENSG00000112282	ENSG00000112282			2372	protein-coding gene	gene with protein product		605042	"cofactor required for Sp1 transcriptional activation, subunit 3, 130kDa"	CRSP3		9989412	Standard	NM_004830		Approved	CRSP130, DRIP130, Sur2	uc003qcs.2	Q9ULK4	OTTHUMG00000015565	ENST00000368068.3:c.2153C>T	6.37:g.131921245G>A	ENSP00000357047:p.Thr718Ile					MED23_ENST00000368060.3_Missense_Mutation_p.T718I|MED23_ENST00000368068.3_Missense_Mutation_p.T718I|MED23_ENST00000368053.4_Missense_Mutation_p.T724I|MED23_ENST00000354577.4_Missense_Mutation_p.T724I|MED23_ENST00000545957.1_Missense_Mutation_p.T359I|MED23_ENST00000540546.1_Missense_Mutation_p.T724I|MED23_ENST00000368058.1_Missense_Mutation_p.T724I	p.T724I			Q9ULK4	MED23_HUMAN		GBM - Glioblastoma multiforme(226;0.0115)|OV - Ovarian serous cystadenocarcinoma(155;0.0608)	18	2344	-	Breast(56;0.0753)		718					B9TX55|O95403|Q5JWT3|Q5JWT4|Q6P9H6|Q9H0J2|Q9NTT9|Q9NTU0|Q9Y5P7|Q9Y667	Missense_Mutation	SNP	ENST00000368068.3	37	c.2171C>T	CCDS5147.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.335034	0.81801	.	.	ENSG00000112282	ENST00000354577;ENST00000368068;ENST00000403834;ENST00000368060;ENST00000540350;ENST00000368058;ENST00000545957;ENST00000368053;ENST00000540546	T;T;T;T;T;T;T;T	0.77229	-1.08;-1.08;-1.08;-1.08;-1.08;-1.08;-1.08;-1.08	5.69	4.82	0.62117	.	0.092481	0.85682	D	0.000000	T	0.71913	0.3396	L	0.38175	1.15	0.80722	D	1	P;B;P;P	0.50443	0.935;0.403;0.869;0.841	P;B;P;P	0.53102	0.718;0.112;0.643;0.51	T	0.75852	-0.3171	10	0.54805	T	0.06	-1.0867	15.9933	0.80223	0.0:0.0:0.8642:0.1358	.	359;724;718;724	B4E3G4;Q9ULK4-2;Q9ULK4;Q9ULK4-3	.;.;MED23_HUMAN;.	I	724;718;724;718;107;724;359;724;724	ENSP00000346588:T724I;ENSP00000357047:T718I;ENSP00000384536:T724I;ENSP00000357039:T718I;ENSP00000357037:T724I;ENSP00000439977:T359I;ENSP00000357032:T724I;ENSP00000437818:T724I	ENSP00000346588:T724I	T	-	2	0	MED23	131962938	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.869000	0.99810	1.380000	0.46344	0.655000	0.94253	ACC		0.363	MED23-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000042215.1			15	19	0	0	0	1	0	15	19					A	131921245	G	A	131921245	3	1	435	1	0	0	0	0	1	0	0	0	9441	1261	44	3	2008	3	MED23	6	131921245	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	16713	131921245	39193822	3326	24251											
STX7	8417	broad.mit.edu	37	chr6	132791752	132791752	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctttcttttgagctgtccTcaggaaaactgccctgaata	9	14	7	11	0	2	2	1	2	1	0	4	3	4	3	3	1	3	1	3	1	4	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:132791752T>C	ENST00000367941.2	-	6	514	c.401A>G	c.(400-402)gAg>gGg	p.E134G	STX7_ENST00000367937.4_Missense_Mutation_p.E134G|STX7_ENST00000448348.3_5'UTR	NM_003569.2	NP_003560.2	O15400	STX7_HUMAN	syntaxin 7	134					intracellular protein transport (GO:0006886)|post-Golgi vesicle-mediated transport (GO:0006892)|synaptic vesicle exocytosis (GO:0016079)	endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal membrane (GO:0005765)|perinuclear region of cytoplasm (GO:0048471)|SNARE complex (GO:0031201)	SNAP receptor activity (GO:0005484)|SNARE binding (GO:0000149)			NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|liver(1)|lung(5)	19	Breast(56;0.0615)			OV - Ovarian serous cystadenocarcinoma(155;0.00532)|GBM - Glioblastoma multiforme(226;0.0114)		TGAGCTGTCCTCAGGAAAACT	0.313																																						ENST00000367941.2																			0				NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|liver(1)|lung(5)	19						c.(400-402)gAg>gGg		syntaxin 7							86	87	87					6																	132791752		2203	4298	6501	SO:0001583	missense	8417				intracellular protein transport|post-Golgi vesicle-mediated transport	early endosome membrane|integral to membrane	SNAP receptor activity	g.chr6:132791752T>C	U77942	CCDS5153.1	6q23.1	2008-02-05			ENSG00000079950	ENSG00000079950			11442	protein-coding gene	gene with protein product		603217				9358037	Standard	NM_003569		Approved		uc003qdg.2	O15400	OTTHUMG00000015577	ENST00000367941.2:c.401A>G	6.37:g.132791752T>C	ENSP00000356918:p.Glu134Gly					STX7_ENST00000367937.4_Missense_Mutation_p.E134G|STX7_ENST00000448348.3_5'UTR	p.E134G	NM_003569.2	NP_003560.2	O15400	STX7_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.00532)|GBM - Glioblastoma multiforme(226;0.0114)	6	514	-	Breast(56;0.0615)		134					E1P579|Q5SZW2|Q96ES9	Missense_Mutation	SNP	ENST00000367941.2	37	c.401A>G	CCDS5153.1	.	.	.	.	.	.	.	.	.	.	T	15.04	2.716385	0.48622	.	.	ENSG00000079950	ENST00000367941;ENST00000448348;ENST00000309255;ENST00000367937	T;T;T	0.21734	1.99;1.99;1.99	5.79	5.79	0.91817	t-SNARE (1);	0.285709	0.40554	N	0.001067	T	0.11324	0.0276	L	0.37630	1.12	0.58432	D	0.999996	B	0.27932	0.194	B	0.32677	0.15	T	0.06023	-1.0850	10	0.37606	T	0.19	-11.6285	15.7943	0.78398	0.0:0.0:0.0:1.0	.	134	O15400	STX7_HUMAN	G	134;134;89;134	ENSP00000356918:E134G;ENSP00000412202:E134G;ENSP00000356914:E134G	ENSP00000309600:E89G	E	-	2	0	STX7	132833445	1.000000	0.71417	0.961000	0.40146	0.972000	0.66771	5.362000	0.66098	2.208000	0.71279	0.533000	0.62120	GAG		0.313	STX7-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042252.2			4	107	0	0	0	1	0	4	107					C	132791752	T	C	132791752	3	2	435	1	0	0	0	0	1	0	0	0	15349	1551	54	4	404	4	STX7	6	132791752	Missense_Mutation	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	870507	132791752	38323315	3327	24252											
VNN2	8875	broad.mit.edu	37	chr6	133078827	133078827	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacctgctcagctgcctgctTgatcgctgtctccagaatgt	6	13	9	13	1	2	2	1	1	1	1	4	2	2	2	3	0	5	4	3	0	2	2	rs367909602		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:133078827T>C	ENST00000326499.6	-	1	320	c.196A>G	c.(196-198)Aag>Gag	p.K66E	VNN2_ENST00000526192.1_5'UTR|VNN2_ENST00000525270.1_Missense_Mutation_p.K13E|VNN2_ENST00000525289.1_Missense_Mutation_p.K66E	NM_004665.2	NP_004656	O95498	VNN2_HUMAN	vanin 2	66	CN hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00054}.				cellular component movement (GO:0006928)|pantothenate metabolic process (GO:0015939)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)	pantetheine hydrolase activity (GO:0017159)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				OV - Ovarian serous cystadenocarcinoma(155;0.00237)|GBM - Glioblastoma multiforme(226;0.0267)		GCTGCCTGCTTGATCGCTGTC	0.438																																						ENST00000326499.6																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(196-198)Aag>Gag		vanin 2			GLU/LYS,GLU/LYS,GLU/LYS	0,4406		0,0,2203	121	117	118		196,196,37	3	0	6		118	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	VNN2	NM_001242350.1,NM_004665.2,NM_078488.1	56,56,56	0,1,6502	CC,CT,TT		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging,possibly-damaging	66/300,66/521,13/468	133078827	1,13005	2203	4300	6503	SO:0001583	missense	8875				cellular component movement|pantothenate metabolic process	anchored to membrane|plasma membrane	pantetheine hydrolase activity	g.chr6:133078827T>C	AB026705	CCDS5161.1, CCDS5162.1, CCDS56451.1	6q23-q24	2013-02-13			ENSG00000112303	ENSG00000112303	3.5.1.92	"Vanins"	12706	protein-coding gene	gene with protein product	"pantetheinase"	603571				9790769, 11491533	Standard	NM_078488		Approved	FOAP-4, GPI-80	uc003qdt.3	O95498	OTTHUMG00000015588	ENST00000326499.6:c.196A>G	6.37:g.133078827T>C	ENSP00000322276:p.Lys66Glu					VNN2_ENST00000526192.1_5'UTR|VNN2_ENST00000525289.1_Missense_Mutation_p.K66E|VNN2_ENST00000525270.1_Missense_Mutation_p.K13E	p.K66E	NM_004665.2	NP_004656.2	O95498	VNN2_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.00237)|GBM - Glioblastoma multiforme(226;0.0267)	1	320	-			66			CN hydrolase.		A0AUZ3|A6NDY1|A8K4E3|A8K7W0|B2DFZ0|B2DFZ1|B2DFZ2|B2DFZ3|F6XL73|Q2XUN1|Q9UJF3|Q9UMW2	Missense_Mutation	SNP	ENST00000326499.6	37	c.196A>G	CCDS5161.1	.	.	.	.	.	.	.	.	.	.	t	2.042	-0.419751	0.04734	0.0	1.16E-4	ENSG00000112303	ENST00000326499;ENST00000525270;ENST00000525289;ENST00000524919;ENST00000530536;ENST00000532012	D;D;D;D;D;D	0.88201	-2.35;-2.35;-2.35;-2.35;-2.35;-2.35	5.59	2.96	0.34315	Nitrilase/cyanide hydratase and apolipoprotein N-acyltransferase (4);	0.430123	0.23296	N	0.049739	T	0.69700	0.3140	L	0.32530	0.975	0.09310	N	1	P;B	0.49559	0.925;0.364	P;B	0.44561	0.453;0.188	T	0.67929	-0.5543	10	0.06494	T	0.89	-3.9798	12.7448	0.57276	0.0:0.0:0.2556:0.7443	.	66;66	O95498-2;O95498	.;VNN2_HUMAN	E	66;13;66;66;13;66	ENSP00000322276:K66E;ENSP00000436822:K13E;ENSP00000436935:K66E;ENSP00000431451:K66E;ENSP00000434210:K13E;ENSP00000431680:K66E	ENSP00000322276:K66E	K	-	1	0	VNN2	133120520	0.021000	0.18746	0.015000	0.15790	0.010000	0.07245	0.973000	0.29422	1.008000	0.39264	0.492000	0.49549	AAG		0.438	VNN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042264.2			34	48	0	0	0	1	0	34	48					C	133078827	T	C	133078827	3	2	435	1	0	0	0	0	1	0	0	0	17180	1821	63	4	1394	4	VNN2	6	133078827	Missense_Mutation	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	287075	133078827	38036240	3328	24253											
EYA4	2070	broad.mit.edu	37	chr6	133783834	133783834	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtccccattacagagtggctGcctcagttacagcccagggt	8	9	11	13	0	1	1	1	0	0	1	2	1	2	1	4	2	4	2	4	2	2	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:133783834G>A	ENST00000367895.5	+	9	1120	c.656G>A	c.(655-657)tGc>tAc	p.C219Y	EYA4_ENST00000355167.3_Missense_Mutation_p.C219Y|EYA4_ENST00000525849.1_Missense_Mutation_p.C196Y|EYA4_ENST00000531901.1_Missense_Mutation_p.C219Y|EYA4_ENST00000452339.2_Missense_Mutation_p.C165Y|EYA4_ENST00000355286.6_Missense_Mutation_p.C196Y|EYA4_ENST00000430974.2_Missense_Mutation_p.C165Y|EYA4_ENST00000431403.2_Missense_Mutation_p.C219Y	NM_004100.4	NP_004091.3	O95677	EYA4_HUMAN	EYA transcriptional coactivator and phosphatase 4	219					anatomical structure morphogenesis (GO:0009653)|chromatin modification (GO:0016568)|DNA repair (GO:0006281)|inner ear development (GO:0048839)|middle ear morphogenesis (GO:0042474)|regulation of transcription, DNA-templated (GO:0006355)|sensory perception of sound (GO:0007605)|transcription, DNA-templated (GO:0006351)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein tyrosine phosphatase activity (GO:0004725)			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|skin(1)	48	Colorectal(23;0.221)			GBM - Glioblastoma multiforme(68;0.00457)|OV - Ovarian serous cystadenocarcinoma(155;0.0152)		CAGAGTGGCTGCCTCAGTTAC	0.468																																					Melanoma(57;398 1237 3528 4702 7415)	ENST00000367895.5																			0				breast(1)|central_nervous_system(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|skin(1)	48						c.(655-657)tGc>tAc		eyes absent homolog 4 (Drosophila)							84	79	81					6																	133783834		2203	4300	6503	SO:0001583	missense	2070				anatomical structure morphogenesis|chromatin modification|DNA repair|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity	g.chr6:133783834G>A	Y17114	CCDS5165.1, CCDS5166.1, CCDS43506.1, CCDS75521.1, CCDS75523.1	6q23	2014-09-17	2014-06-19		ENSG00000112319	ENSG00000112319		"Protein tyrosine phosphatases / Asp-based PTPs"	3522	protein-coding gene	gene with protein product		603550	"eyes absent (Drosophila) homolog 4", "eyes absent homolog 4 (Drosophila)"	DFNA10, CMD1J		9887327, 11159937	Standard	NM_004100		Approved		uc003qed.4	O95677	OTTHUMG00000015602	ENST00000367895.5:c.656G>A	6.37:g.133783834G>A	ENSP00000356870:p.Cys219Tyr					EYA4_ENST00000531901.1_Missense_Mutation_p.C219Y|EYA4_ENST00000355286.6_Missense_Mutation_p.C196Y|EYA4_ENST00000430974.2_Missense_Mutation_p.C165Y|EYA4_ENST00000355167.3_Missense_Mutation_p.C219Y|EYA4_ENST00000525849.1_Missense_Mutation_p.C196Y|EYA4_ENST00000431403.2_Missense_Mutation_p.C219Y|EYA4_ENST00000452339.2_Missense_Mutation_p.C165Y	p.C219Y	NM_004100.4	NP_004091.3	O95677	EYA4_HUMAN		GBM - Glioblastoma multiforme(68;0.00457)|OV - Ovarian serous cystadenocarcinoma(155;0.0152)	9	1120	+	Colorectal(23;0.221)		219					B7Z7F7|O95464|O95679|Q8IW39|Q9NTR7	Missense_Mutation	SNP	ENST00000367895.5	37	c.656G>A	CCDS5165.1	.	.	.	.	.	.	.	.	.	.	G	14.12	2.441397	0.43326	.	.	ENSG00000112319	ENST00000452339;ENST00000430974;ENST00000367895;ENST00000355167;ENST00000355286;ENST00000531901;ENST00000525849;ENST00000431403	D;D;D;D;D;D;D;D	0.89746	-2.5;-2.45;-2.56;-2.56;-2.55;-2.56;-2.55;-2.56	5.63	4.76	0.60689	.	0.000000	0.85682	D	0.000000	D	0.84543	0.5495	L	0.29908	0.895	0.49299	D	0.999775	B;B;D;B;P;B	0.60575	0.321;0.013;0.988;0.16;0.534;0.321	B;B;D;B;B;B	0.74348	0.205;0.006;0.983;0.06;0.138;0.205	D	0.83381	0.0012	10	0.05833	T	0.94	-2.3101	16.0263	0.80548	0.0:0.0:0.8646:0.1354	.	219;165;165;196;219;219	F2Z2Y1;E7ESD5;E7EN58;O95677-2;O95677-4;O95677	.;.;.;.;.;EYA4_HUMAN	Y	165;165;219;219;196;219;196;219	ENSP00000395916:C165Y;ENSP00000388670:C165Y;ENSP00000356870:C219Y;ENSP00000347294:C219Y;ENSP00000347434:C196Y;ENSP00000432770:C219Y;ENSP00000433219:C196Y;ENSP00000404558:C219Y	ENSP00000347294:C219Y	C	+	2	0	EYA4	133825527	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.471000	0.97696	1.360000	0.45960	0.650000	0.86243	TGC		0.468	EYA4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000042282.2	NM_004100		22	37	0	0	0	1	0	22	37					A	133783834	G	A	133783834	3	1	435	1	0	0	0	0	1	0	0	0	5331	1319	46	3	686	3	EYA4	6	133783834	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	705007	133783834	37331233	3329	24254											
SGK1	6446	broad.mit.edu	37	chr6	134491490	134491490	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acgctggctgtgacgaggacGctgtcaggggacttgccaat	8	8	15	10	3	1	1	1	1	0	0	1	4	1	3	1	4	1	3	1	4	1	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:134491490G>A	ENST00000237305.7	-	12	1300	c.1212C>T	c.(1210-1212)agC>agT	p.S404S	SGK1_ENST00000489458.2_5'Flank|SGK1_ENST00000475719.2_Silent_p.S360S|SGK1_ENST00000528577.1_Silent_p.S432S|SGK1_ENST00000367857.5_Silent_p.S394S|SGK1_ENST00000413996.3_Silent_p.S418S|SGK1_ENST00000367858.5_Silent_p.S499S	NM_005627.3	NP_005618.2	O00141	SGK1_HUMAN	serum/glucocorticoid regulated kinase 1	404	AGC-kinase C-terminal.				apoptotic process (GO:0006915)|cellular response to DNA damage stimulus (GO:0006974)|ion transmembrane transport (GO:0034220)|long-term memory (GO:0007616)|positive regulation of transporter activity (GO:0032411)|protein phosphorylation (GO:0006468)|regulation of apoptotic process (GO:0042981)|regulation of blood pressure (GO:0008217)|regulation of catalytic activity (GO:0050790)|regulation of cell growth (GO:0001558)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|regulation of gastric acid secretion (GO:0060453)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|renal sodium ion absorption (GO:0070294)|response to stress (GO:0006950)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium channel regulator activity (GO:0005246)|chloride channel regulator activity (GO:0017081)|potassium channel regulator activity (GO:0015459)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|sodium channel regulator activity (GO:0017080)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(21)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|skin(4)|stomach(1)	46	Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.00317)|GBM - Glioblastoma multiforme(68;0.00847)		TGACGAGGACGCTGTCAGGGG	0.587																																						ENST00000367858.5																			0				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(21)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|skin(4)|stomach(1)	46						c.(1495-1497)agC>agT		serum/glucocorticoid regulated kinase 1							79	71	74					6																	134491490		2203	4300	6503	SO:0001819	synonymous_variant	6446				apoptosis|response to stress|sodium ion transport	endoplasmic reticulum|nucleus|plasma membrane	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr6:134491490G>A	AJ000512	CCDS5170.1, CCDS47476.1, CCDS47477.1, CCDS47478.1	6q23	2008-02-05	2007-12-05	2007-12-05	ENSG00000118515	ENSG00000118515			10810	protein-coding gene	gene with protein product		602958	"serum/glucocorticoid regulated kinase"	SGK		9114008, 9722955	Standard	NM_005627		Approved		uc003qeo.4	O00141	OTTHUMG00000015613	ENST00000237305.7:c.1212C>T	6.37:g.134491490G>A						SGK1_ENST00000475719.2_Silent_p.S360S|SGK1_ENST00000413996.3_Silent_p.S418S|SGK1_ENST00000528577.1_Silent_p.S432S|SGK1_ENST00000367857.5_Silent_p.S394S|SGK1_ENST00000237305.7_Silent_p.S404S	p.S499S	NM_001143676.1	NP_001137148.1	O00141	SGK1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.00317)|GBM - Glioblastoma multiforme(68;0.00847)	14	2094	-	Colorectal(23;0.221)		404					B7UUP7|B7UUP8|B7UUP9|B7Z5B2|E1P583|Q5TCN2|Q5TCN3|Q5TCN4|Q5VY65|Q9UN56	Silent	SNP	ENST00000237305.7	37	c.1497C>T	CCDS5170.1																																																																																				0.587	SGK1-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042312.2			13	29	0	0	0	1	0	13	29					A	134491490	G	A	134491490	2	1	435	1	0	0	0	0	0	0	0	1	14207	1078	38	1		1	SGK1	6	134491490	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	707656	134491490	36623577	3330	24255											
SGK1	6446	broad.mit.edu	37	chr6	134492174	134492174	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cactcacgaagtcatccttgGccccgagccgctttgtcctg	6	10	9	16	3	2	0	2	0	0	0	4	2	4	0	5	1	1	1	5	1	1	2	rs55932330		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:134492174G>A	ENST00000237305.7	-	10	1113	c.1025C>T	c.(1024-1026)gCc>gTc	p.A342V	SGK1_ENST00000489458.2_5'Flank|SGK1_ENST00000475719.2_Missense_Mutation_p.A298V|SGK1_ENST00000528577.1_Missense_Mutation_p.A370V|SGK1_ENST00000367857.5_Missense_Mutation_p.A332V|SGK1_ENST00000413996.3_Missense_Mutation_p.A356V|SGK1_ENST00000367858.5_Missense_Mutation_p.A437V	NM_005627.3	NP_005618.2	O00141	SGK1_HUMAN	serum/glucocorticoid regulated kinase 1	342	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		A -> V (in dbSNP:rs55932330). {ECO:0000269|PubMed:17344846}.		apoptotic process (GO:0006915)|cellular response to DNA damage stimulus (GO:0006974)|ion transmembrane transport (GO:0034220)|long-term memory (GO:0007616)|positive regulation of transporter activity (GO:0032411)|protein phosphorylation (GO:0006468)|regulation of apoptotic process (GO:0042981)|regulation of blood pressure (GO:0008217)|regulation of catalytic activity (GO:0050790)|regulation of cell growth (GO:0001558)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|regulation of gastric acid secretion (GO:0060453)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|renal sodium ion absorption (GO:0070294)|response to stress (GO:0006950)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium channel regulator activity (GO:0005246)|chloride channel regulator activity (GO:0017081)|potassium channel regulator activity (GO:0015459)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|sodium channel regulator activity (GO:0017080)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(21)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|skin(4)|stomach(1)	46	Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.00317)|GBM - Glioblastoma multiforme(68;0.00847)		GTCATCCTTGGCCCCGAGCCG	0.527																																						ENST00000367858.5																			0				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(21)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|skin(4)|stomach(1)	46						c.(1309-1311)gCc>gTc		serum/glucocorticoid regulated kinase 1							76	74	75					6																	134492174		2203	4300	6503	SO:0001583	missense	6446				apoptosis|response to stress|sodium ion transport	endoplasmic reticulum|nucleus|plasma membrane	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr6:134492174G>A	AJ000512	CCDS5170.1, CCDS47476.1, CCDS47477.1, CCDS47478.1	6q23	2008-02-05	2007-12-05	2007-12-05	ENSG00000118515	ENSG00000118515			10810	protein-coding gene	gene with protein product		602958	"serum/glucocorticoid regulated kinase"	SGK		9114008, 9722955	Standard	NM_005627		Approved		uc003qeo.4	O00141	OTTHUMG00000015613	ENST00000237305.7:c.1025C>T	6.37:g.134492174G>A	ENSP00000237305:p.Ala342Val					SGK1_ENST00000475719.2_Missense_Mutation_p.A298V|SGK1_ENST00000413996.3_Missense_Mutation_p.A356V|SGK1_ENST00000528577.1_Missense_Mutation_p.A370V|SGK1_ENST00000367857.5_Missense_Mutation_p.A332V|SGK1_ENST00000237305.7_Missense_Mutation_p.A342V	p.A437V	NM_001143676.1	NP_001137148.1	O00141	SGK1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.00317)|GBM - Glioblastoma multiforme(68;0.00847)	12	1907	-	Colorectal(23;0.221)		342					B7UUP7|B7UUP8|B7UUP9|B7Z5B2|E1P583|Q5TCN2|Q5TCN3|Q5TCN4|Q5VY65|Q9UN56	Missense_Mutation	SNP	ENST00000237305.7	37	c.1310C>T	CCDS5170.1	.	.	.	.	.	.	.	.	.	.	G	12.12	1.843827	0.32606	.	.	ENSG00000118515	ENST00000367858;ENST00000413996;ENST00000237305;ENST00000367857;ENST00000528577;ENST00000475719	T;T;T;T;T;T	0.53640	0.61;0.61;0.61;0.61;0.61;0.61	5.91	5.91	0.95273	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.190789	0.56097	D	0.000025	T	0.31765	0.0807	L	0.36672	1.1	0.80722	D	1	B;B;B;B;B;B	0.23490	0.048;0.023;0.028;0.028;0.086;0.07	B;B;B;B;B;B	0.21546	0.024;0.014;0.035;0.015;0.035;0.025	T	0.09930	-1.0652	10	0.59425	D	0.04	.	20.3052	0.98627	0.0:0.0:1.0:0.0	rs55932330	370;356;298;332;437;342	O00141-5;O00141-3;E9PR89;O00141-4;O00141-2;O00141	.;.;.;.;.;SGK1_HUMAN	V	437;356;342;332;370;298	ENSP00000356832:A437V;ENSP00000396242:A356V;ENSP00000237305:A342V;ENSP00000356831:A332V;ENSP00000434450:A370V;ENSP00000434302:A298V	ENSP00000237305:A342V	A	-	2	0	SGK1	134533867	1.000000	0.71417	0.997000	0.53966	0.475000	0.33008	5.682000	0.68182	2.808000	0.96608	0.655000	0.94253	GCC		0.527	SGK1-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042312.2			20	22	0	0	0	1	0	20	22					A	134492174	G	A	134492174	3	1	435	1	0	0	0	0	1	0	0	0	14207	1203	42	3	282	3	SGK1	6	134492174	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	684	134492174	36622893	3331	24256											
ALDH8A1	64577	broad.mit.edu	37	chr6	135263570	135263570	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcccaccggggcccgcaccGtgtagtgcatgcagcccagg	6	5	13	17	3	0	0	0	0	0	0	1	0	1	0	5	3	3	4	5	3	1	1	rs533886052		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:135263570G>A	ENST00000265605.2	-	3	487	c.419C>T	c.(418-420)aCg>aTg	p.T140M	RP11-349J5.2_ENST00000416448.2_RNA|ALDH8A1_ENST00000367847.2_Missense_Mutation_p.T140M|ALDH8A1_ENST00000367845.2_Missense_Mutation_p.T140M	NM_022568.3	NP_072090.1	Q9H2A2	AL8A1_HUMAN	aldehyde dehydrogenase 8 family, member A1	140					9-cis-retinoic acid biosynthetic process (GO:0042904)|retinal metabolic process (GO:0042574)|retinoic acid metabolic process (GO:0042573)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)	retinal dehydrogenase activity (GO:0001758)	p.T140M(1)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	36	Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.00401)|GBM - Glioblastoma multiforme(68;0.0058)		GGCCCGCACCGTGTAGTGCAT	0.582													G|||	1	0.000199681	0	0	5008	,	,		17593	0		0	False		,,,				2504	0.001					ENST00000265605.2																			1	Substitution - Missense(1)	p.T140M(1)	NS(1)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	36						c.(418-420)aCg>aTg		aldehyde dehydrogenase 8 family, member A1							86	80	82					6																	135263570		2203	4300	6503	SO:0001583	missense	64577				retinal metabolic process	cytoplasm	retinal dehydrogenase activity	g.chr6:135263570G>A	AL021939	CCDS5171.1, CCDS5172.1, CCDS55057.1	6q24.1-q25.1	2008-07-03			ENSG00000118514	ENSG00000118514		"Aldehyde dehydrogenases"	15471	protein-coding gene	gene with protein product		606467				11007799	Standard	NM_001193480		Approved	ALDH12	uc003qew.3	Q9H2A2	OTTHUMG00000015623	ENST00000265605.2:c.419C>T	6.37:g.135263570G>A	ENSP00000265605:p.Thr140Met					ALDH8A1_ENST00000367845.2_Missense_Mutation_p.T140M|ALDH8A1_ENST00000367847.2_Missense_Mutation_p.T140M|RP11-349J5.2_ENST00000416448.2_RNA	p.T140M	NM_022568.3	NP_072090.1	Q9H2A2	AL8A1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.00401)|GBM - Glioblastoma multiforme(68;0.0058)	3	487	-	Colorectal(23;0.221)		140					B7Z521|O60793|Q24JS9|Q53GT3|Q5TI80	Missense_Mutation	SNP	ENST00000265605.2	37	c.419C>T	CCDS5171.1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.506159	0.85282	.	.	ENSG00000118514	ENST00000265605;ENST00000367845;ENST00000367847	T;T;T	0.78126	-1.15;-1.15;1.48	5.32	5.32	0.75619	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, N-terminal (1);Aldehyde/histidinol dehydrogenase (1);	0.000000	0.85682	D	0.000000	D	0.85026	0.5603	M	0.62154	1.92	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.77557	0.99;0.982;0.99	D	0.86419	0.1753	10	0.87932	D	0	.	19.0055	0.92849	0.0:0.0:1.0:0.0	.	140;140;140	B7Z521;Q9H2A2-2;Q9H2A2	.;.;AL8A1_HUMAN	M	140	ENSP00000265605:T140M;ENSP00000356819:T140M;ENSP00000356821:T140M	ENSP00000265605:T140M	T	-	2	0	ALDH8A1	135305263	1.000000	0.71417	0.939000	0.37840	0.459000	0.32528	9.807000	0.99171	2.472000	0.83506	0.655000	0.94253	ACG		0.582	ALDH8A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042334.2			3	34	0	0	0	1	0	3	34					A	135263570	G	A	135263570	3	1	435	1	0	0	0	0	1	0	0	0	505	1145	40	1	1064	1	ALDH8A1	6	135263570	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	771396	135263570	35851497	3332	24257											
ALDH8A1	64577	broad.mit.edu	37	chr6	135265038	135265038	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctggttcaggacccgtgagcGctcctgggggctgcgggatg	4	8	18	11	3	1	1	1	1	0	0	2	3	2	3	2	5	2	3	2	5	0	1	rs188218462	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:135265038G>A	ENST00000265605.2	-	2	273	c.205C>T	c.(205-207)Cgc>Tgc	p.R69C	RP11-349J5.2_ENST00000416448.2_RNA|ALDH8A1_ENST00000367847.2_Missense_Mutation_p.R69C|ALDH8A1_ENST00000367845.2_Missense_Mutation_p.R69C	NM_022568.3	NP_072090.1	Q9H2A2	AL8A1_HUMAN	aldehyde dehydrogenase 8 family, member A1	69					9-cis-retinoic acid biosynthetic process (GO:0042904)|retinal metabolic process (GO:0042574)|retinoic acid metabolic process (GO:0042573)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)	retinal dehydrogenase activity (GO:0001758)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	36	Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.00401)|GBM - Glioblastoma multiforme(68;0.0058)		ACCCGTGAGCGCTCCTGGGGG	0.592													G|||	2	0.000399361	8e-04	0	5008	,	,		18302	0.001		0	False		,,,				2504	0					ENST00000265605.2																			0				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	36						c.(205-207)Cgc>Tgc		aldehyde dehydrogenase 8 family, member A1							47	51	49					6																	135265038		2203	4300	6503	SO:0001583	missense	64577				retinal metabolic process	cytoplasm	retinal dehydrogenase activity	g.chr6:135265038G>A	AL021939	CCDS5171.1, CCDS5172.1, CCDS55057.1	6q24.1-q25.1	2008-07-03			ENSG00000118514	ENSG00000118514		"Aldehyde dehydrogenases"	15471	protein-coding gene	gene with protein product		606467				11007799	Standard	NM_001193480		Approved	ALDH12	uc003qew.3	Q9H2A2	OTTHUMG00000015623	ENST00000265605.2:c.205C>T	6.37:g.135265038G>A	ENSP00000265605:p.Arg69Cys					ALDH8A1_ENST00000367845.2_Missense_Mutation_p.R69C|ALDH8A1_ENST00000367847.2_Missense_Mutation_p.R69C	p.R69C	NM_022568.3	NP_072090.1	Q9H2A2	AL8A1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.00401)|GBM - Glioblastoma multiforme(68;0.0058)	2	273	-	Colorectal(23;0.221)		69					B7Z521|O60793|Q24JS9|Q53GT3|Q5TI80	Missense_Mutation	SNP	ENST00000265605.2	37	c.205C>T	CCDS5171.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	23.7	4.442041	0.83993	.	.	ENSG00000118514	ENST00000265605;ENST00000367845;ENST00000367847	T;T;T	0.62364	0.03;0.03;0.03	6.07	6.07	0.98685	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, N-terminal (1);Aldehyde/histidinol dehydrogenase (1);	0.000000	0.85682	D	0.000000	D	0.85314	0.5668	H	0.98426	4.23	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.997;0.998	D	0.89642	0.3863	10	0.87932	D	0	.	13.5084	0.61497	0.0:0.0:0.7452:0.2548	.	69;69;69	B7Z521;Q9H2A2-2;Q9H2A2	.;.;AL8A1_HUMAN	C	69	ENSP00000265605:R69C;ENSP00000356819:R69C;ENSP00000356821:R69C	ENSP00000265605:R69C	R	-	1	0	ALDH8A1	135306731	1.000000	0.71417	1.000000	0.80357	0.861000	0.49209	3.926000	0.56491	2.890000	0.99128	0.586000	0.80456	CGC		0.592	ALDH8A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042334.2			18	24	0	0	0	1	0	18	24					A	135265038	G	A	135265038	3	1	435	1	0	0	0	0	1	0	0	0	505	1087	38	1	1282	1	ALDH8A1	6	135265038	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	1468	135265038	35850029	3333	24258											
AHI1	54806	broad.mit.edu	37	chr6	135639719	135639719	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agggcttaaaggaggggatcGctcctttatctcaggaggca	10	9	14	8	1	1	0	1	0	1	0	4	3	2	3	1	6	0	3	1	6	3	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:135639719G>A	ENST00000367800.4	-	24	3580	c.3364C>T	c.(3364-3366)Cga>Tga	p.R1122*	AHI1_ENST00000457866.2_Nonsense_Mutation_p.R1122*|AHI1_ENST00000417892.2_Nonsense_Mutation_p.R476*	NM_001134830.1	NP_001128302.1	Q8N157	AHI1_HUMAN	Abelson helper integration site 1	1122					cellular protein localization (GO:0034613)|central nervous system development (GO:0007417)|cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|cloaca development (GO:0035844)|heart looping (GO:0001947)|hindbrain development (GO:0030902)|Kupffer's vesicle development (GO:0070121)|left/right axis specification (GO:0070986)|morphogenesis of a polarized epithelium (GO:0001738)|negative regulation of apoptotic process (GO:0043066)|otic vesicle development (GO:0071599)|photoreceptor cell outer segment organization (GO:0035845)|positive regulation of polarized epithelial cell differentiation (GO:0030862)|positive regulation of receptor internalization (GO:0002092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|pronephric duct morphogenesis (GO:0039023)|pronephric nephron tubule morphogenesis (GO:0039008)|protein localization to organelle (GO:0033365)|regulation of behavior (GO:0050795)|retina layer formation (GO:0010842)|specification of axis polarity (GO:0065001)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vesicle targeting (GO:0006903)|vesicle-mediated transport (GO:0016192)	adherens junction (GO:0005912)|cell-cell junction (GO:0005911)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|nonmotile primary cilium (GO:0031513)|photoreceptor outer segment (GO:0001750)|primary cilium (GO:0072372)|TCTN-B9D complex (GO:0036038)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)	37	Breast(56;0.239)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00904)|OV - Ovarian serous cystadenocarcinoma(155;0.00991)		GGAGGGGATCGCTCCTTTATC	0.383																																						ENST00000367800.4																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)	37						c.(3364-3366)Cga>Tga		Abelson helper integration site 1							48	44	45					6																	135639719		1826	4085	5911	SO:0001587	stop_gained	54806					adherens junction|cilium|microtubule basal body		g.chr6:135639719G>A	AJ459824	CCDS47483.1, CCDS47484.1	6q23.2	2013-01-10	2005-11-29		ENSG00000135541	ENSG00000135541		"WD repeat domain containing"	21575	protein-coding gene	gene with protein product	"Jouberin"	608894	"Abelson helper integration site"			15060101, 16240161	Standard	NM_017651		Approved	FLJ20069, ORF1, JBTS3	uc003qgj.3	Q8N157	OTTHUMG00000015631	ENST00000367800.4:c.3364C>T	6.37:g.135639719G>A	ENSP00000356774:p.Arg1122*					AHI1_ENST00000457866.2_Nonsense_Mutation_p.R1122*|AHI1_ENST00000417892.2_Nonsense_Mutation_p.R476*	p.R1122*	NM_001134830.1	NP_001128302.1	Q8N157	AHI1_HUMAN		GBM - Glioblastoma multiforme(68;0.00904)|OV - Ovarian serous cystadenocarcinoma(155;0.00991)	24	3580	-	Breast(56;0.239)|Colorectal(23;0.24)		1122					E1P584|Q4FD35|Q504T3|Q5TCP9|Q6P098|Q6PIT6|Q8NDX0|Q9H0H2	Nonsense_Mutation	SNP	ENST00000367800.4	37	c.3364C>T	CCDS47483.1	.	.	.	.	.	.	.	.	.	.	G	32	5.167201	0.94768	.	.	ENSG00000135541	ENST00000367800;ENST00000457866;ENST00000417892;ENST00000265602	.	.	.	5.21	3.24	0.37175	.	0.419618	0.22031	N	0.065581	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.08381	T	0.77	-10.7848	7.5729	0.27918	0.0:0.17:0.6213:0.2087	.	.	.	.	X	1122;1122;476;1122	.	ENSP00000265602:R1122X	R	-	1	2	AHI1	135681412	0.963000	0.33076	1.000000	0.80357	0.948000	0.59901	0.701000	0.25616	1.493000	0.48517	0.557000	0.71058	CGA		0.383	AHI1-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391948.1	NM_017651		8	8	0	0	0	1	0	8	8					A	135639719	G	A	135639719	4	1	435	1	0	0	0	0	0	1	0	0	413	1095	38	1	242	1	AHI1	6	135639719	Nonsense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	374681	135639719	35475348	3334	24259											
AHI1	54806	broad.mit.edu	37	chr6	135769461	135769461	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttcagtcctcttacagttacGtacagtgttgatgggtaatg	9	15	10	7	1	2	1	1	1	1	0	3	1	3	1	1	1	3	4	1	1	4	6	rs370332260		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:135769461G>A	ENST00000367800.4	-	10	1809	c.1593C>T	c.(1591-1593)taC>taT	p.Y531Y	AHI1_ENST00000457866.2_Silent_p.Y531Y|AHI1_ENST00000327035.6_Silent_p.Y531Y	NM_001134830.1	NP_001128302.1	Q8N157	AHI1_HUMAN	Abelson helper integration site 1	531					cellular protein localization (GO:0034613)|central nervous system development (GO:0007417)|cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|cloaca development (GO:0035844)|heart looping (GO:0001947)|hindbrain development (GO:0030902)|Kupffer's vesicle development (GO:0070121)|left/right axis specification (GO:0070986)|morphogenesis of a polarized epithelium (GO:0001738)|negative regulation of apoptotic process (GO:0043066)|otic vesicle development (GO:0071599)|photoreceptor cell outer segment organization (GO:0035845)|positive regulation of polarized epithelial cell differentiation (GO:0030862)|positive regulation of receptor internalization (GO:0002092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|pronephric duct morphogenesis (GO:0039023)|pronephric nephron tubule morphogenesis (GO:0039008)|protein localization to organelle (GO:0033365)|regulation of behavior (GO:0050795)|retina layer formation (GO:0010842)|specification of axis polarity (GO:0065001)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vesicle targeting (GO:0006903)|vesicle-mediated transport (GO:0016192)	adherens junction (GO:0005912)|cell-cell junction (GO:0005911)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|nonmotile primary cilium (GO:0031513)|photoreceptor outer segment (GO:0001750)|primary cilium (GO:0072372)|TCTN-B9D complex (GO:0036038)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)	37	Breast(56;0.239)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00904)|OV - Ovarian serous cystadenocarcinoma(155;0.00991)		TTACAGTTACGTACAGTGTTG	0.363																																						ENST00000367800.4																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)	37						c.(1591-1593)taC>taT		Abelson helper integration site 1		G	,,,	1,3793		0,1,1896	117	107	111		1593,1593,1593,1593	0.9	1	6		111	1,8209		0,1,4104	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	AHI1	NM_001134830.1,NM_001134831.1,NM_001134832.1,NM_017651.4	,,,	0,2,6000	AA,AG,GG		0.0122,0.0264,0.0167	,,,	531/1197,531/1197,531/1054,531/1197	135769461	2,12002	1897	4105	6002	SO:0001819	synonymous_variant	54806					adherens junction|cilium|microtubule basal body		g.chr6:135769461G>A	AJ459824	CCDS47483.1, CCDS47484.1	6q23.2	2013-01-10	2005-11-29		ENSG00000135541	ENSG00000135541		"WD repeat domain containing"	21575	protein-coding gene	gene with protein product	"Jouberin"	608894	"Abelson helper integration site"			15060101, 16240161	Standard	NM_017651		Approved	FLJ20069, ORF1, JBTS3	uc003qgj.3	Q8N157	OTTHUMG00000015631	ENST00000367800.4:c.1593C>T	6.37:g.135769461G>A						AHI1_ENST00000457866.2_Silent_p.Y531Y|AHI1_ENST00000327035.6_Silent_p.Y531Y	p.Y531Y	NM_001134830.1	NP_001128302.1	Q8N157	AHI1_HUMAN		GBM - Glioblastoma multiforme(68;0.00904)|OV - Ovarian serous cystadenocarcinoma(155;0.00991)	10	1809	-	Breast(56;0.239)|Colorectal(23;0.24)		531					E1P584|Q4FD35|Q504T3|Q5TCP9|Q6P098|Q6PIT6|Q8NDX0|Q9H0H2	Silent	SNP	ENST00000367800.4	37	c.1593C>T	CCDS47483.1	.	.	.	.	.	.	.	.	.	.	G	8.712	0.912339	0.17907	2.64E-4	1.22E-4	ENSG00000135541	ENST00000367799	.	.	.	5.9	0.867	0.19085	.	.	.	.	.	T	0.42177	0.1191	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.31194	-0.9952	4	.	.	.	-17.6443	8.8708	0.35314	0.6773:0.0:0.3227:0.0	.	.	.	.	M	31	.	.	T	-	2	0	AHI1	135811154	1.000000	0.71417	0.997000	0.53966	0.976000	0.68499	1.407000	0.34657	-0.067000	0.12976	-0.312000	0.09012	ACG		0.363	AHI1-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391948.1	NM_017651		8	16	0	0	0	1	0	8	16					A	135769461	G	A	135769461	2	1	435	1	0	0	0	0	0	0	0	1	413	1140	40	1		1	AHI1	6	135769461	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	129742	135769461	35345606	3335	24260											
BCLAF1	9774	broad.mit.edu	37	chr6	136590580	136590580	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtttgaacaattacctgtcAtctttgtaagatttgtattc	11	18	6	6	0	2	2	1	1	1	1	3	2	2	2	1	0	2	3	1	0	5	7			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:136590580A>G	ENST00000531224.1	-	9	2466	c.2214T>C	c.(2212-2214)gaT>gaC	p.D738D	BCLAF1_ENST00000031135.9_5'Flank|BCLAF1_ENST00000392348.2_Silent_p.D736D|BCLAF1_ENST00000527536.1_Silent_p.D738D|BCLAF1_ENST00000527759.1_Silent_p.D736D|BCLAF1_ENST00000353331.4_Silent_p.D736D|BCLAF1_ENST00000529917.1_5'UTR|BCLAF1_ENST00000530767.1_Silent_p.D565D	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1	738					apoptotic process (GO:0006915)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA-templated transcription, initiation (GO:2000144)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of response to DNA damage stimulus (GO:2001022)|regulation of DNA-templated transcription in response to stress (GO:0043620)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		ATTACCTGTCATCTTTGTAAG	0.358																																					Colon(142;1534 1789 5427 7063 28491)	ENST00000531224.1																			0				haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9						c.(2212-2214)gaT>gaC		BCL2-associated transcription factor 1							98	92	94					6																	136590580		2202	4299	6501	SO:0001819	synonymous_variant	9774				induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding	g.chr6:136590580A>G	AF249273	CCDS5177.1, CCDS47485.1, CCDS47486.1, CCDS75525.1	6q22-q23	2007-03-02			ENSG00000029363	ENSG00000029363			16863	protein-coding gene	gene with protein product		612588				8724849, 10330179	Standard	NM_001077440		Approved	KIAA0164, BTF	uc003qgx.1	Q9NYF8	OTTHUMG00000033323	ENST00000531224.1:c.2214T>C	6.37:g.136590580A>G						BCLAF1_ENST00000529917.1_5'UTR|BCLAF1_ENST00000392348.2_Silent_p.D736D|BCLAF1_ENST00000353331.4_Silent_p.D736D|BCLAF1_ENST00000527759.1_Silent_p.D736D|BCLAF1_ENST00000530767.1_Silent_p.D565D|BCLAF1_ENST00000527536.1_Silent_p.D738D	p.D738D	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN		GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)	9	2466	-	Colorectal(23;0.24)		738					A2RU75|B7ZM58|E1P586|Q14673|Q86WU6|Q86WY0	Silent	SNP	ENST00000531224.1	37	c.2214T>C	CCDS5177.1	.	.	.	.	.	.	.	.	.	.	A	4.304	0.055756	0.08291	.	.	ENSG00000029363	ENST00000534762	.	.	.	4.86	-0.449	0.12226	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-1.4543	3.2636	0.06858	0.501:0.0:0.2293:0.2697	.	.	.	.	R	27	.	.	X	-	1	0	BCLAF1	136632273	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	1.174000	0.31932	-0.012000	0.14223	0.482000	0.46254	TGA		0.358	BCLAF1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042375.2	NM_014739		10	22	0	0	0	1	0	10	22					G	136590580	A	G	136590580	2	3	435	1	0	0	0	0	0	0	0	1	1383	214	8	4		4	BCLAF1	6	136590580	Silent	SNP	A	TCGA-XK-AAIW-01A-11D-A41K-08	821119	136590580	34524487	3336	24261											
BCLAF1	9774	broad.mit.edu	37	chr6	136599627	136599627	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acctagaagatctatatgacCggcgagatctgcttctggat	11	11	10	9	2	3	4	0	1	3	3	3	6	3	5	2	2	1	1	2	2	4	4	rs149799182		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:136599627C>A	ENST00000531224.1	-	4	644	c.392G>T	c.(391-393)cGg>cTg	p.R131L	BCLAF1_ENST00000392348.2_Missense_Mutation_p.R129L|BCLAF1_ENST00000527536.1_Missense_Mutation_p.R131L|BCLAF1_ENST00000527759.1_Missense_Mutation_p.R129L|BCLAF1_ENST00000353331.4_Missense_Mutation_p.R129L|BCLAF1_ENST00000530767.1_Missense_Mutation_p.R131L	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1	131					apoptotic process (GO:0006915)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA-templated transcription, initiation (GO:2000144)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of response to DNA damage stimulus (GO:2001022)|regulation of DNA-templated transcription in response to stress (GO:0043620)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)	p.R131P(1)		haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		TCTATATGACCGGCGAGATCT	0.448																																					Colon(142;1534 1789 5427 7063 28491)	ENST00000531224.1																			1	Substitution - Missense(1)	p.R131P(1)	lung(1)	haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9						c.(391-393)cGg>cTg		BCL2-associated transcription factor 1							189	202	198					6																	136599627		2203	4300	6503	SO:0001583	missense	9774				induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding	g.chr6:136599627C>A	AF249273	CCDS5177.1, CCDS47485.1, CCDS47486.1, CCDS75525.1	6q22-q23	2007-03-02			ENSG00000029363	ENSG00000029363			16863	protein-coding gene	gene with protein product		612588				8724849, 10330179	Standard	NM_001077440		Approved	KIAA0164, BTF	uc003qgx.1	Q9NYF8	OTTHUMG00000033323	ENST00000531224.1:c.392G>T	6.37:g.136599627C>A	ENSP00000435210:p.Arg131Leu					BCLAF1_ENST00000392348.2_Missense_Mutation_p.R129L|BCLAF1_ENST00000353331.4_Missense_Mutation_p.R129L|BCLAF1_ENST00000527759.1_Missense_Mutation_p.R129L|BCLAF1_ENST00000530767.1_Missense_Mutation_p.R131L|BCLAF1_ENST00000527536.1_Missense_Mutation_p.R131L	p.R131L	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN		GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)	4	644	-	Colorectal(23;0.24)		131					A2RU75|B7ZM58|E1P586|Q14673|Q86WU6|Q86WY0	Missense_Mutation	SNP	ENST00000531224.1	37	c.392G>T	CCDS5177.1	.	.	.	.	.	.	.	.	.	.	C	15.47	2.842445	0.51057	.	.	ENSG00000029363	ENST00000531224;ENST00000353331;ENST00000527536;ENST00000530767;ENST00000527759;ENST00000392348;ENST00000529826	T;T;T;T;T;T;T	0.13538	2.58;2.58;2.58;2.58;2.58;2.58;2.58	5.64	5.64	0.86602	.	0.213045	0.33346	N	0.005007	T	0.09512	0.0234	N	0.24115	0.695	0.80722	D	1	P;D;P;P	0.56035	0.949;0.974;0.949;0.949	P;P;P;P	0.52481	0.556;0.7;0.556;0.556	T	0.06006	-1.0851	10	0.46703	T	0.11	-4.8627	12.9743	0.58529	0.0:0.9259:0.0:0.074	.	129;129;131;131	Q9NYF8-2;Q9NYF8-3;Q9NYF8;Q9NYF8-4	.;.;BCLF1_HUMAN;.	L	131;129;131;131;129;129;131	ENSP00000435210:R131L;ENSP00000229446:R129L;ENSP00000435441:R131L;ENSP00000436501:R131L;ENSP00000434826:R129L;ENSP00000376159:R129L;ENSP00000431734:R131L	ENSP00000229446:R129L	R	-	2	0	BCLAF1	136641320	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.673000	0.54591	2.660000	0.90430	0.557000	0.71058	CGG		0.448	BCLAF1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042375.2	NM_014739		44	161	1	0	2.47872e-24	1	2.76515e-24	44	161					A	136599627	C	A	136599627	3	1	435	1	0	0	0	0	1	0	0	0	1383	652	23	5	2410	5	BCLAF1	6	136599627	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	9047	136599627	34515440	3337	24262											
MAP7	9053	broad.mit.edu	37	chr6	136683812	136683812	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaggctggagctggggccgaGgctggagctggggccatggc	5	5	22	9	1	0	0	0	0	0	0	0	4	0	2	2	9	2	4	2	9	0	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:136683812G>T	ENST00000354570.3	-	11	1712	c.1302C>A	c.(1300-1302)gcC>gcA	p.A434A	MAP7_ENST00000454590.1_Silent_p.A456A|MAP7_ENST00000432797.2_Silent_p.A288A|MAP7_ENST00000438100.2_Silent_p.A419A|MAP7_ENST00000544465.1_Silent_p.A419A|RP3-406A7.3_ENST00000571188.1_RNA	NM_001198616.1|NM_001198617.1|NM_001198619.1|NM_003980.4	NP_001185545.1|NP_001185546.1|NP_001185548.1|NP_003971.1	Q14244	MAP7_HUMAN	microtubule-associated protein 7	434	Pro-rich.				cell morphogenesis (GO:0000902)|cell proliferation (GO:0008283)|establishment or maintenance of cell polarity (GO:0007163)|fertilization (GO:0009566)|germ cell development (GO:0007281)|glycosphingolipid metabolic process (GO:0006687)|homeostasis of number of cells (GO:0048872)|Leydig cell differentiation (GO:0033327)|microtubule bundle formation (GO:0001578)|microtubule cytoskeleton organization (GO:0000226)|nucleus organization (GO:0006997)|organ growth (GO:0035265)|protein localization to plasma membrane (GO:0072659)|response to osmotic stress (GO:0006970)|response to retinoic acid (GO:0032526)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|microtubule cytoskeleton (GO:0015630)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)|structural molecule activity (GO:0005198)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(11)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00199)|OV - Ovarian serous cystadenocarcinoma(155;0.00643)		ctggggccgaggctggagctg	0.572																																						ENST00000354570.3																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(11)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33						c.(1300-1302)gcC>gcA		microtubule-associated protein 7							12	15	14					6																	136683812		2202	4291	6493	SO:0001819	synonymous_variant	9053				establishment or maintenance of cell polarity|microtubule cytoskeleton organization|protein localization in plasma membrane|response to osmotic stress	basolateral plasma membrane|microtubule|microtubule associated complex|nucleus|perinuclear region of cytoplasm	receptor binding|structural molecule activity	g.chr6:136683812G>T	X73882	CCDS5178.1, CCDS56452.1, CCDS56453.1, CCDS56454.1, CCDS56455.1, CCDS75527.1, CCDS75528.1, CCDS75529.1	6q23.2	2008-07-28			ENSG00000135525	ENSG00000135525			6869	protein-coding gene	gene with protein product		604108				8408219	Standard	NM_003980		Approved	E-MAP-115	uc011edg.2	Q14244	OTTHUMG00000015646	ENST00000354570.3:c.1302C>A	6.37:g.136683812G>T						MAP7_ENST00000438100.2_Silent_p.A419A|MAP7_ENST00000454590.1_Silent_p.A456A|MAP7_ENST00000432797.2_Silent_p.A288A|MAP7_ENST00000544465.1_Silent_p.A419A	p.A434A	NM_001198616.1|NM_001198617.1|NM_001198619.1|NM_003980.4	NP_001185545.1|NP_001185546.1|NP_001185548.1|NP_003971.1	Q14244	MAP7_HUMAN		GBM - Glioblastoma multiforme(68;0.00199)|OV - Ovarian serous cystadenocarcinoma(155;0.00643)	11	1712	-	Colorectal(23;0.24)		434			Pro-rich.		B7Z290|B7Z400|B7Z5S7|B7Z9U7|C9JPS0|E9PCP3|F5H1E2|Q7Z6S0|Q8TAU5|Q9NY82|Q9NY83	Silent	SNP	ENST00000354570.3	37	c.1302C>A	CCDS5178.1																																																																																				0.572	MAP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042382.2	NM_003980		9	17	1	0	2.52707e-12	1	2.73248e-12	9	17					T	136683812	G	T	136683812	2	4	435	1	0	0	0	0	0	0	0	1	9266	987	35	5		5	MAP7	6	136683812	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	84185	136683812	34431255	3338	24263											
MAP3K5	4217	broad.mit.edu	37	chr6	136972228	136972228	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tggttggttctaatattaatAccttgaaaagatacggcaaa	15	13	8	5	1	1	2	0	1	1	1	1	2	1	2	1	3	2	3	1	3	8	8			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:136972228A>G	ENST00000359015.4	-	11	2042	c.1682T>C	c.(1681-1683)gTa>gCa	p.V561A	MAP3K5_ENST00000355845.4_5'UTR	NM_005923.3	NP_005914.1	Q99683	M3K5_HUMAN	mitogen-activated protein kinase kinase kinase 5	561					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of JUN kinase activity (GO:0007257)|activation of MAPKK activity (GO:0000186)|apoptotic signaling pathway (GO:0097190)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to reactive nitrogen species (GO:1902170)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|JNK cascade (GO:0007254)|MAPK cascade (GO:0000165)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of neuron death (GO:1901216)|programmed necrotic cell death (GO:0097300)|protein phosphorylation (GO:0006468)|response to ischemia (GO:0002931)|viral process (GO:0016032)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|protein kinase complex (GO:1902911)	ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|magnesium ion binding (GO:0000287)|MAP kinase kinase kinase activity (GO:0004709)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein phosphatase binding (GO:0019903)			NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(6)|large_intestine(6)|lung(24)|ovary(2)|prostate(1)|skin(4)|urinary_tract(4)	58	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00137)|OV - Ovarian serous cystadenocarcinoma(155;0.00569)		TAATATTAATACCTTGAAAAG	0.368																																						ENST00000359015.4																			0				NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(6)|large_intestine(6)|lung(24)|ovary(2)|prostate(1)|skin(4)|urinary_tract(4)	58						c.e11-1		mitogen-activated protein kinase kinase kinase 5							94	85	88					6																	136972228		2202	4300	6502	SO:0001630	splice_region_variant	4217				activation of JUN kinase activity|activation of MAPKK activity|cellular response to hydrogen peroxide|induction of apoptosis by extracellular signals|interspecies interaction between organisms		ATP binding|caspase activator activity|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein phosphatase binding	g.chr6:136972228A>G	U67156	CCDS5179.1	6q22.33	2011-06-09			ENSG00000197442	ENSG00000197442		"Mitogen-activated protein kinase cascade / Kinase kinase kinases"	6857	protein-coding gene	gene with protein product	"apoptosis signal regulating kinase 1"	602448		MEKK5		9465908	Standard	NM_005923		Approved	MAPKKK5, ASK1	uc003qhc.3	Q99683	OTTHUMG00000015647	ENST00000359015.4:c.1681-1T>C	6.37:g.136972228A>G						MAP3K5_ENST00000355845.4_5'UTR	p.V561_splice	NM_005923.3	NP_005914.1	Q99683	M3K5_HUMAN		GBM - Glioblastoma multiforme(68;0.00137)|OV - Ovarian serous cystadenocarcinoma(155;0.00569)	11	2042	-	Colorectal(23;0.24)		561					A6NIA0|B4DGB2|Q5THN3|Q99461	Splice_Site	SNP	ENST00000359015.4	37	c.1680_splice	CCDS5179.1	.	.	.	.	.	.	.	.	.	.	A	21.2	4.108743	0.77096	.	.	ENSG00000197442	ENST00000359015;ENST00000367768	T	0.75704	-0.96	4.59	4.59	0.56863	.	0.000000	0.85682	D	0.000000	T	0.81484	0.4832	M	0.76002	2.32	0.80722	D	1	D;D	0.63880	0.985;0.993	P;D	0.70016	0.831;0.967	D	0.83814	0.0243	10	0.56958	D	0.05	.	14.2871	0.66254	1.0:0.0:0.0:0.0	.	641;561	Q59GL6;Q99683	.;M3K5_HUMAN	A	561;641	ENSP00000351908:V561A	ENSP00000351908:V561A	V	-	2	0	MAP3K5	137013921	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.460000	0.90369	1.816000	0.52996	0.528000	0.53228	GTA		0.368	MAP3K5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042383.1		Missense_Mutation	8	13	0	0	0	1	0	8	13					G	136972228	A	G	136972228	5	3	435	1	0	0	0	0	0	0	1	0	9253	405	14	4	2522	4	MAP3K5	6	136972228	Splice_Site	SNP	A	TCGA-XK-AAIW-01A-11D-A41K-08	288416	136972228	34142839	3339	24264											
SLC35D3	340146	broad.mit.edu	37	chr6	137245294	137245294	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcctgcatcctgatcggctgCgccatgaacttcaccacgct	7	9	9	16	3	1	2	1	2	0	0	3	2	2	2	4	1	3	3	4	1	1	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:137245294C>T	ENST00000331858.4	+	2	876	c.711C>T	c.(709-711)tgC>tgT	p.C237C		NM_001008783.1	NP_001008783.1	Q5M8T2	S35D3_HUMAN	solute carrier family 35, member D3	237					carbohydrate transport (GO:0008643)	integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)	13	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000136)|OV - Ovarian serous cystadenocarcinoma(155;0.00365)		TGATCGGCTGCGCCATGAACT	0.627																																						ENST00000331858.4																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)	13						c.(709-711)tgC>tgT		solute carrier family 35, member D3							68	53	58					6																	137245294		2203	4300	6503	SO:0001819	synonymous_variant	340146				carbohydrate transport	integral to membrane		g.chr6:137245294C>T		CCDS34544.1	6q23.2	2013-05-22			ENSG00000182747	ENSG00000182747		"Solute carriers"	15621	protein-coding gene	gene with protein product		612519		FRCL1			Standard	NM_001008783		Approved		uc003qhe.3	Q5M8T2	OTTHUMG00000015651	ENST00000331858.4:c.711C>T	6.37:g.137245294C>T							p.C237C	NM_001008783.1	NP_001008783.1	Q5M8T2	S35D3_HUMAN		GBM - Glioblastoma multiforme(68;0.000136)|OV - Ovarian serous cystadenocarcinoma(155;0.00365)	2	876	+	Colorectal(23;0.24)		237					B4DI58|Q5QNZ6|Q6NX71	Silent	SNP	ENST00000331858.4	37	c.711C>T	CCDS34544.1																																																																																				0.627	SLC35D3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042389.2	XM_294017		7	8	0	0	0	1	0	7	8					T	137245294	C	T	137245294	2	4	435	1	0	0	0	0	0	0	0	1	14583	776	27	1		1	SLC35D3	6	137245294	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	273066	137245294	33869773	3340	24265											
IL20RA	53832	broad.mit.edu	37	chr6	137323047	137323047	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcgggcccaagactgccaacGctgcctgcgactccaataat	10	6	10	15	3	0	1	0	0	0	1	1	2	1	1	4	1	4	1	4	1	4	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:137323047G>A	ENST00000316649.5	-	7	1545	c.1310C>T	c.(1309-1311)gCg>gTg	p.A437V	IL20RA_ENST00000367748.1_Missense_Mutation_p.A326V|IL20RA_ENST00000468393.1_5'Flank|RP11-204P2.3_ENST00000458017.1_RNA|IL20RA_ENST00000541547.1_Missense_Mutation_p.A388V	NM_001278722.1|NM_014432.2	NP_001265651.1|NP_055247	Q9UHF4	I20RA_HUMAN	interleukin 20 receptor, alpha	437					cytokine-mediated signaling pathway (GO:0019221)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|regulation of bone resorption (GO:0045124)	integral component of membrane (GO:0016021)				NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	27	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000351)|OV - Ovarian serous cystadenocarcinoma(155;0.00459)		GACTGCCAACGCTGCCTGCGA	0.572																																						ENST00000367748.1																			0				NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						c.(976-978)gCg>gTg		interleukin 20 receptor, alpha							75	63	67					6																	137323047		2203	4300	6503	SO:0001583	missense	53832					integral to membrane	receptor activity	g.chr6:137323047G>A	AF184971	CCDS5181.1, CCDS64535.1, CCDS64536.1	6q23.3	2008-02-05			ENSG00000016402	ENSG00000016402		"Interleukins and interleukin receptors"	6003	protein-coding gene	gene with protein product		605620				10875937, 11163236	Standard	NM_001278724		Approved	ZCYTOR7, IL-20R1	uc003qhj.3	Q9UHF4	OTTHUMG00000015654	ENST00000316649.5:c.1310C>T	6.37:g.137323047G>A	ENSP00000314976:p.Ala437Val					IL20RA_ENST00000316649.5_Missense_Mutation_p.A437V|IL20RA_ENST00000541547.1_Missense_Mutation_p.A388V	p.A326V			Q9UHF4	I20RA_HUMAN		GBM - Glioblastoma multiforme(68;0.000351)|OV - Ovarian serous cystadenocarcinoma(155;0.00459)	6	1563	-	Colorectal(23;0.24)		437					B4DLR5|F5H675|Q14CW2|Q6UWA9|Q96SH8	Missense_Mutation	SNP	ENST00000316649.5	37	c.977C>T	CCDS5181.1	.	.	.	.	.	.	.	.	.	.	G	12.08	1.831636	0.32329	.	.	ENSG00000016402	ENST00000316649;ENST00000367748;ENST00000541547	T;T;T	0.67345	-0.02;1.48;-0.26	5.76	3.95	0.45737	.	2.626200	0.00786	N	0.001306	T	0.43875	0.1267	L	0.50333	1.59	0.09310	N	1	B;D	0.56521	0.049;0.976	B;B	0.41174	0.023;0.349	T	0.24621	-1.0155	10	0.30078	T	0.28	-0.229	8.8124	0.34976	0.08:0.1504:0.7696:0.0	.	326;437	Q9UHF4-2;Q9UHF4	.;I20RA_HUMAN	V	437;326;388	ENSP00000314976:A437V;ENSP00000356722:A326V;ENSP00000437843:A388V	ENSP00000314976:A437V	A	-	2	0	IL20RA	137364740	0.000000	0.05858	0.001000	0.08648	0.008000	0.06430	0.631000	0.24568	0.760000	0.33108	-0.136000	0.14681	GCG		0.572	IL20RA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042393.1	NM_014432		10	49	0	0	0	1	0	10	49					A	137323047	G	A	137323047	3	1	435	1	0	0	0	0	1	0	0	0	7668	1087	38	1	355	1	IL20RA	6	137323047	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	77753	137323047	33792020	3341	24266											
PERP	64065	broad.mit.edu	37	chr6	138413380	138413380	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtgtacttcacggggtaaatTaccagggagatgatctggaa	12	10	13	6	1	2	2	1	1	1	1	2	4	2	3	1	4	2	2	1	4	5	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:138413380T>C	ENST00000421351.3	-	3	551	c.381A>G	c.(379-381)gtA>gtG	p.V127V		NM_022121.4	NP_071404.2	Q96FX8	PERP_HUMAN	PERP, TP53 apoptosis effector	127					activation of cysteine-type endopeptidase activity (GO:0097202)|amelogenesis (GO:0097186)|desmosome organization (GO:0002934)|heterotypic cell-cell adhesion (GO:0034113)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|positive regulation of proteolysis (GO:0045862)	cell junction (GO:0030054)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)				breast(1)|cervix(1)|endometrium(1)|lung(1)|prostate(1)	5	Breast(32;0.0799)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000878)|OV - Ovarian serous cystadenocarcinoma(155;0.000997)		CGGGGTAAATTACCAGGGAGA	0.468																																						ENST00000421351.3																			0				breast(1)|cervix(1)|endometrium(1)|lung(1)|prostate(1)	5						c.(379-381)gtA>gtG		PERP, TP53 apoptosis effector							76	77	77					6																	138413380		2203	4300	6503	SO:0001819	synonymous_variant	64065				apoptosis|cell adhesion	desmosome|Golgi apparatus|integral to membrane|nucleus		g.chr6:138413380T>C	AF317550	CCDS5188.1	6q24	2014-04-29			ENSG00000112378	ENSG00000112378			17637	protein-coding gene	gene with protein product	"keratinocyte associated protein 1"	609301				11062687	Standard	NM_022121		Approved	PIGPC1, dJ496H19.1, KCP1, THW, KRTCAP1	uc003qht.2	Q96FX8	OTTHUMG00000015668	ENST00000421351.3:c.381A>G	6.37:g.138413380T>C							p.V127V	NM_022121.4	NP_071404.2	Q96FX8	PERP_HUMAN		GBM - Glioblastoma multiforme(68;0.000878)|OV - Ovarian serous cystadenocarcinoma(155;0.000997)	3	551	-	Breast(32;0.0799)|Colorectal(23;0.24)		127					B2RB73|E1P590|Q8IWS3|Q8N1J6|Q8NC16|Q9H1C5|Q9H230	Silent	SNP	ENST00000421351.3	37	c.381A>G	CCDS5188.1																																																																																				0.468	PERP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042423.2	NM_022121		4	22	0	0	0	1	0	4	22					C	138413380	T	C	138413380	2	2	435	1	0	0	0	0	0	0	0	1	11732	1741	61	4		4	PERP	6	138413380	Silent	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	1090333	138413380	32701687	3342	24267											
PBOV1	59351	broad.mit.edu	37	chr6	138539134	138539134	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gggctgagagtttatatgatCtgtggatgtatagttttgga	9	16	14	2	0	1	2	0	2	1	1	1	5	1	4	0	3	0	4	0	3	4	7			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:138539134C>T	ENST00000527246.2	-	1	493	c.399G>A	c.(397-399)caG>caA	p.Q133Q	KIAA1244_ENST00000251691.4_Intron	NM_021635.2	NP_067648.1	Q9GZY1	PBOV1_HUMAN	prostate and breast cancer overexpressed 1	133						cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(1)	1	Breast(32;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00055)|GBM - Glioblastoma multiforme(68;0.000674)		TTTATATGATCTGTGGATGTA	0.393																																						ENST00000527246.2																			0				endometrium(1)	1						c.(397-399)caG>caA		prostate and breast cancer overexpressed 1							94	96	95					6																	138539134		2203	4300	6503	SO:0001819	synonymous_variant	59351					cytoplasm|nucleus		g.chr6:138539134C>T	AF189269	CCDS5190.1	6q23.3	2012-02-09			ENSG00000254440	ENSG00000254440			21079	protein-coding gene	gene with protein product		605669				12553037, 11156405	Standard	NM_021635		Approved	UC28, UROC28	uc003qhv.3	Q9GZY1	OTTHUMG00000167040	ENST00000527246.2:c.399G>A	6.37:g.138539134C>T						KIAA1244_ENST00000251691.4_Intron	p.Q133Q	NM_021635.2	NP_067648.1	Q9GZY1	PBOV1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.00055)|GBM - Glioblastoma multiforme(68;0.000674)	1	493	-	Breast(32;0.135)		133						Silent	SNP	ENST00000527246.2	37	c.399G>A	CCDS5190.1																																																																																				0.393	PBOV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392617.1	NM_021635		24	28	0	0	0	1	0	24	28					T	138539134	C	T	138539134	2	4	435	1	0	0	0	0	0	0	0	1	11490	912	32	3		3	PBOV1	6	138539134	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	125754	138539134	32575933	3343	24268											
KIAA1244	57221	broad.mit.edu	37	chr6	138584445	138584445	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acctttctaggacagagtttGattcctgtgatcagtactct	9	15	8	9	0	3	3	1	2	2	1	4	4	4	4	2	1	1	2	2	1	2	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:138584445G>A	ENST00000251691.4	+	12	1991	c.1825G>A	c.(1825-1827)Gat>Aat	p.D609N		NM_020340.4	NP_065073.3			KIAA1244											NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2)	44	Breast(32;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)		GACAGAGTTTGATTCCTGTGA	0.478																																						ENST00000251691.4																			0				NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2)	44						c.(1825-1827)Gat>Aat		KIAA1244							201	207	205					6																	138584445		2203	4300	6503	SO:0001583	missense	57221				regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity	g.chr6:138584445G>A	AB033070	CCDS5189.2	6q23.3	2012-04-17			ENSG00000112379	ENSG00000112379		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	21213	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 33"		"chromosome 6 open reading frame 92"	C6orf92			Standard	NM_020340		Approved	dJ171N11.1, BIG3, PPP1R33	uc003qhu.3	Q5TH69	OTTHUMG00000015670	ENST00000251691.4:c.1825G>A	6.37:g.138584445G>A	ENSP00000251691:p.Asp609Asn						p.D609N	NM_020340.4	NP_065073.3	Q5TH69	BIG3_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)	12	1991	+	Breast(32;0.135)		609			SEC7.			Missense_Mutation	SNP	ENST00000251691.4	37	c.1825G>A	CCDS5189.2	.	.	.	.	.	.	.	.	.	.	G	27.1	4.802070	0.90538	.	.	ENSG00000112379	ENST00000251691	T	0.28666	1.6	5.32	5.32	0.75619	SEC7-like (1);	2.240520	0.02328	N	0.073650	T	0.49355	0.1552	L	0.57536	1.79	0.58432	D	0.999998	D	0.69078	0.997	D	0.77004	0.989	T	0.31110	-0.9955	10	0.32370	T	0.25	-26.8524	19.0069	0.92854	0.0:0.0:1.0:0.0	.	609	Q5TH69	BIG3_HUMAN	N	609	ENSP00000251691:D609N	ENSP00000251691:D609N	D	+	1	0	KIAA1244	138626138	1.000000	0.71417	0.598000	0.28837	0.923000	0.55619	9.496000	0.97967	2.482000	0.83794	0.655000	0.94253	GAT		0.478	KIAA1244-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042425.4	NM_020340		79	96	0	0	0	1	0	79	96					A	138584445	G	A	138584445	3	1	435	1	0	0	0	0	1	0	0	0	8217	1290	45	3	1871	3	KIAA1244	6	138584445	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	45311	138584445	32530622	3344	24269											
KIAA1244	57221	broad.mit.edu	37	chr6	138655389	138655389	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaagtgtctggcatcgggggCgccgccaacctctaccgcca	8	6	12	15	4	2	0	0	0	2	0	3	0	2	0	5	3	2	1	5	3	3	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:138655389C>T	ENST00000251691.4	+	33	5572	c.5406C>T	c.(5404-5406)ggC>ggT	p.G1802G		NM_020340.4	NP_065073.3			KIAA1244											NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2)	44	Breast(32;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)		GCATCGGGGGCGCCGCCAACC	0.557																																						ENST00000251691.4																			0				NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2)	44						c.(5404-5406)ggC>ggT		KIAA1244							25	26	25					6																	138655389		2203	4300	6503	SO:0001819	synonymous_variant	57221				regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity	g.chr6:138655389C>T	AB033070	CCDS5189.2	6q23.3	2012-04-17			ENSG00000112379	ENSG00000112379		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	21213	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 33"		"chromosome 6 open reading frame 92"	C6orf92			Standard	NM_020340		Approved	dJ171N11.1, BIG3, PPP1R33	uc003qhu.3	Q5TH69	OTTHUMG00000015670	ENST00000251691.4:c.5406C>T	6.37:g.138655389C>T							p.G1802G	NM_020340.4	NP_065073.3	Q5TH69	BIG3_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)	33	5572	+	Breast(32;0.135)		1802						Silent	SNP	ENST00000251691.4	37	c.5406C>T	CCDS5189.2																																																																																				0.557	KIAA1244-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042425.4	NM_020340		4	7	0	0	0	1	0	4	7					T	138655389	C	T	138655389	2	4	435	1	0	0	0	0	0	0	0	1	8217	755	27	1		1	KIAA1244	6	138655389	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	70944	138655389	32459678	3345	24270											
ECT2L	345930	broad.mit.edu	37	chr6	139183810	139183810	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgtctcaactaactggcacGttctttacggcccccactgg	7	11	8	15	2	2	0	1	0	2	0	3	0	2	0	2	3	3	2	2	3	3	4	rs200520042		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:139183810G>A	ENST00000423192.1	+	10	1406	c.1245G>A	c.(1243-1245)acG>acA	p.T415T	ECT2L_ENST00000495970.1_3'UTR|ECT2L_ENST00000367682.2_Silent_p.T415T|ECT2L_ENST00000541398.1_Silent_p.T346T			Q008S8	ECT2L_HUMAN	epithelial cell transforming 2 like	415							Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(1)	30						TAACTGGCACGTTCTTTACGG	0.468			"N, Splice, Mis"		ETP ALL								G|||	1	0.000199681	0	0	5008	,	,		20936	0.001		0	False		,,,				2504	0					ENST00000423192.1				Rec	yes		6	6q24.1	345930	"N, Splice, Mis"	epithelial cell transforming sequence 2 oncogene-like			L			ETP ALL		0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(1)	30						c.(1243-1245)acG>acA		epithelial cell transforming sequence 2 oncogene-like							95	90	91					6																	139183810		1933	4146	6079	SO:0001819	synonymous_variant	345930				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	g.chr6:139183810G>A		CCDS43508.1	6q24.1	2014-03-11	2014-03-11		ENSG00000203734	ENSG00000203734		"Rho guanine nucleotide exchange factors", "F-boxes /  "other""	21118	protein-coding gene	gene with protein product	"lung specific F-box and DH domain containing protein", "F-box protein 49"		"chromosome 6 open reading frame 91", "epithelial cell transforming sequence 2 oncogene-like"	C6orf91			Standard	NM_001077706		Approved	ARHGEF32, FBXO49, LFDH	uc021zfx.1	Q008S8	OTTHUMG00000015679	ENST00000423192.1:c.1245G>A	6.37:g.139183810G>A						ECT2L_ENST00000367682.2_Silent_p.T415T|ECT2L_ENST00000495970.1_3'UTR|ECT2L_ENST00000541398.1_Silent_p.T346T	p.T415T			Q008S8	ECT2L_HUMAN			10	1406	+			415					B2RUV6|Q5JWK2|Q5JWK3|Q5JWK4	Silent	SNP	ENST00000423192.1	37	c.1245G>A	CCDS43508.1																																																																																				0.468	ECT2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042441.3	NM_001077706		37	45	0	0	0	1	0	37	45					A	139183810	G	A	139183810	2	1	435	1	0	0	0	0	0	0	0	1	4902	1132	40	1		1	ECT2L	6	139183810	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	528421	139183810	31931257	3346	24271											
REPS1	85021	broad.mit.edu	37	chr6	139266738	139266738	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggggaattacaccagaatacGacccttgattttcagaatct	13	11	8	9	1	2	3	1	1	1	2	2	5	2	4	2	2	2	0	2	2	5	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:139266738G>A	ENST00000450536.2	-	3	948	c.374C>T	c.(373-375)tCg>tTg	p.S125L	REPS1_ENST00000367663.4_Missense_Mutation_p.S125L|REPS1_ENST00000415951.2_Missense_Mutation_p.S125L|REPS1_ENST00000258062.5_Missense_Mutation_p.S125L|REPS1_ENST00000531675.1_5'Flank|REPS1_ENST00000409812.2_Missense_Mutation_p.S125L			Q96D71	REPS1_HUMAN	RALBP1 associated Eps domain containing 1	125					receptor-mediated endocytosis (GO:0006898)	coated pit (GO:0005905)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|SH3 domain binding (GO:0017124)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(2)	19				GBM - Glioblastoma multiforme(68;0.000434)|OV - Ovarian serous cystadenocarcinoma(155;0.000548)		ACCAGAATACGACCCTTGATT	0.478																																						ENST00000450536.2																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(2)	19						c.(373-375)tCg>tTg		RALBP1 associated Eps domain containing 1							138	132	134					6																	139266738		2203	4300	6503	SO:0001583	missense	85021					coated pit|plasma membrane	calcium ion binding|SH3 domain binding	g.chr6:139266738G>A		CCDS5193.2, CCDS47488.1, CCDS69212.1, CCDS69213.1	6q24.1	2013-01-10			ENSG00000135597	ENSG00000135597		"EF-hand domain containing"	15578	protein-coding gene	gene with protein product		614825					Standard	XM_005267177		Approved		uc011edr.2	Q96D71	OTTHUMG00000015685	ENST00000450536.2:c.374C>T	6.37:g.139266738G>A	ENSP00000392065:p.Ser125Leu					REPS1_ENST00000409812.2_Missense_Mutation_p.S125L|REPS1_ENST00000415951.2_Missense_Mutation_p.S125L|REPS1_ENST00000367663.4_Missense_Mutation_p.S125L|REPS1_ENST00000258062.5_Missense_Mutation_p.S125L	p.S125L			Q96D71	REPS1_HUMAN		GBM - Glioblastoma multiforme(68;0.000434)|OV - Ovarian serous cystadenocarcinoma(155;0.000548)	3	948	-			125					B7ZBZ8|B7ZBZ9|B7ZC00|J3KP76|Q5JWJ5|Q5JWJ6|Q5JWJ7|Q8NDR7|Q8WU62|Q9BXY9	Missense_Mutation	SNP	ENST00000450536.2	37	c.374C>T		.	.	.	.	.	.	.	.	.	.	G	12.59	1.982629	0.34942	.	.	ENSG00000135597	ENST00000450536;ENST00000367663;ENST00000529597;ENST00000409812;ENST00000258062;ENST00000415951;ENST00000367668	T;T;T;T;T;T	0.30981	1.51;1.55;1.51;1.55;1.51;1.55	5.56	5.56	0.83823	.	0.237622	0.44902	D	0.000403	T	0.08492	0.0211	N	0.14661	0.345	0.33579	D	0.599563	B;B;B;B	0.14012	0.001;0.009;0.001;0.005	B;B;B;B	0.12156	0.002;0.007;0.001;0.003	T	0.08249	-1.0731	10	0.09590	T	0.72	-11.2856	17.7013	0.88295	0.0:0.0:1.0:0.0	.	125;125;125;125	Q96D71-3;Q96D71-2;Q96D71;E9PMG1	.;.;REPS1_HUMAN;.	L	125;125;111;125;125;125;73	ENSP00000392065:S125L;ENSP00000356635:S125L;ENSP00000434251:S111L;ENSP00000386699:S125L;ENSP00000258062:S125L;ENSP00000397941:S125L	ENSP00000258062:S125L	S	-	2	0	REPS1	139308431	0.961000	0.32948	0.546000	0.28166	0.824000	0.46624	4.716000	0.61916	2.614000	0.88457	0.650000	0.86243	TCG		0.478	REPS1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000042447.3			74	92	0	0	0	1	0	74	92					A	139266738	G	A	139266738	3	1	435	1	0	0	0	0	1	0	0	0	13228	1059	37	2	2088	2	REPS1	6	139266738	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	82928	139266738	31848329	3347	24272											
HECA	51696	broad.mit.edu	37	chr6	139488332	139488332	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcagtgccagccacagaaacGtggtaaactgtgccctgtgc	10	8	11	12	1	1	1	1	0	0	1	1	1	1	1	3	1	6	1	3	1	3	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:139488332G>A	ENST00000367658.2	+	2	1468	c.1183G>A	c.(1183-1185)Gtg>Atg	p.V395M	RP1-225E12.2_ENST00000589192.1_RNA|RP1-225E12.2_ENST00000586266.1_RNA|RP1-225E12.2_ENST00000415194.2_RNA|RP1-225E12.3_ENST00000585874.1_RNA|RP1-225E12.2_ENST00000585447.1_RNA|RP1-225E12.2_ENST00000591102.1_RNA|RP1-225E12.2_ENST00000586229.1_RNA|RP1-225E12.2_ENST00000588638.1_RNA|RP1-225E12.2_ENST00000588529.1_RNA|RP1-225E12.2_ENST00000590679.1_RNA|RP1-225E12.2_ENST00000587577.1_RNA	NM_016217.2	NP_057301.1	Q9UBI9	HDC_HUMAN	headcase homolog (Drosophila)	395					respiratory tube development (GO:0030323)	membrane (GO:0016020)				endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)	15				GBM - Glioblastoma multiforme(68;0.000252)|OV - Ovarian serous cystadenocarcinoma(155;0.000387)		CCACAGAAACGTGGTAAACTG	0.577																																						ENST00000367658.2																			0				endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)	15						c.(1183-1185)Gtg>Atg		headcase homolog (Drosophila)							54	49	51					6																	139488332		2203	4300	6503	SO:0001583	missense	51696				respiratory tube development			g.chr6:139488332G>A	AB033492	CCDS5194.1	6q23-q24	2010-11-25			ENSG00000112406	ENSG00000112406			21041	protein-coding gene	gene with protein product		607977				11696983, 19643820	Standard	NM_016217		Approved	HDCL, hHDC, HDC, dJ225E12.1	uc003qin.3	Q9UBI9	OTTHUMG00000015686	ENST00000367658.2:c.1183G>A	6.37:g.139488332G>A	ENSP00000356630:p.Val395Met					RP1-225E12.2_ENST00000415194.2_RNA|RP1-225E12.2_ENST00000589192.1_RNA|RP1-225E12.2_ENST00000586229.1_RNA|RP1-225E12.2_ENST00000586266.1_RNA|RP1-225E12.2_ENST00000590679.1_RNA|RP1-225E12.2_ENST00000588638.1_RNA|RP1-225E12.2_ENST00000587577.1_RNA|RP1-225E12.2_ENST00000588529.1_RNA|RP1-225E12.3_ENST00000585874.1_RNA	p.V395M	NM_016217.2	NP_057301.1	Q9UBI9	HDC_HUMAN		GBM - Glioblastoma multiforme(68;0.000252)|OV - Ovarian serous cystadenocarcinoma(155;0.000387)	2	1468	+			395						Missense_Mutation	SNP	ENST00000367658.2	37	c.1183G>A	CCDS5194.1	.	.	.	.	.	.	.	.	.	.	G	14.06	2.421453	0.42918	.	.	ENSG00000112406	ENST00000367658	.	.	.	4.8	4.8	0.61643	.	0.000000	0.85682	D	0.000000	T	0.54515	0.1863	N	0.14661	0.345	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.63418	-0.6642	9	0.54805	T	0.06	.	18.064	0.89385	0.0:0.0:1.0:0.0	.	395	Q9UBI9	HDC_HUMAN	M	395	.	ENSP00000356630:V395M	V	+	1	0	HECA	139530025	1.000000	0.71417	0.350000	0.25708	0.813000	0.45954	6.217000	0.72218	2.492000	0.84095	0.563000	0.77884	GTG		0.577	HECA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042456.1	NM_016217		11	19	0	0	0	1	0	11	19					A	139488332	G	A	139488332	3	1	435	1	0	0	0	0	1	0	0	0	7038	1145	40	1	1189	1	HECA	6	139488332	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	221594	139488332	31626735	3348	24273											
NMBR	4829	broad.mit.edu	37	chr6	142396969	142396969	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgttgaaatgcctcctgaagCtttcactgagtaggtaaaga	12	12	10	7	0	1	4	1	3	0	1	2	4	2	4	2	1	2	4	2	1	5	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:142396969C>T	ENST00000258042.1	-	3	1129	c.989G>A	c.(988-990)aGc>aAc	p.S330N	NMBR_ENST00000480652.1_5'UTR	NM_002511.2	NP_002502.2	P28336	NMBR_HUMAN	neuromedin B receptor	330					G-protein coupled receptor signaling pathway (GO:0007186)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	bombesin receptor activity (GO:0004946)			breast(2)|central_nervous_system(3)|endometrium(3)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23	Breast(32;0.155)			OV - Ovarian serous cystadenocarcinoma(155;9.93e-06)|GBM - Glioblastoma multiforme(68;0.0013)		CCTCCTGAAGCTTTCACTGAG	0.488																																						ENST00000258042.1																			0				breast(2)|central_nervous_system(3)|endometrium(3)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23						c.(988-990)aGc>aAc		neuromedin B receptor							104	100	102					6																	142396969		2203	4300	6503	SO:0001583	missense	4829				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger	cytoplasm|integral to plasma membrane	bombesin receptor activity	g.chr6:142396969C>T		CCDS5196.1	6q24.1	2014-02-21			ENSG00000135577	ENSG00000135577		"GPCR / Class A : Bombesin receptors"	7843	protein-coding gene	gene with protein product	"bombesin receptor 1"	162341					Standard	NM_002511		Approved	BB1	uc003qiu.3	P28336	OTTHUMG00000015704	ENST00000258042.1:c.989G>A	6.37:g.142396969C>T	ENSP00000258042:p.Ser330Asn					NMBR_ENST00000480652.1_5'UTR	p.S330N	NM_002511.2	NP_002502.2	P28336	NMBR_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;9.93e-06)|GBM - Glioblastoma multiforme(68;0.0013)	3	1129	-	Breast(32;0.155)		330					E9KL38|Q5VUK8	Missense_Mutation	SNP	ENST00000258042.1	37	c.989G>A	CCDS5196.1	.	.	.	.	.	.	.	.	.	.	C	17.86	3.493056	0.64186	.	.	ENSG00000135577	ENST00000258042	T	0.36157	1.27	5.31	5.31	0.75309	.	0.000000	0.85682	D	0.000000	T	0.26846	0.0657	M	0.66939	2.045	0.80722	D	1	B	0.15473	0.013	B	0.22601	0.04	T	0.11324	-1.0592	10	0.19590	T	0.45	-28.8068	19.3468	0.94367	0.0:1.0:0.0:0.0	.	330	P28336	NMBR_HUMAN	N	330	ENSP00000258042:S330N	ENSP00000258042:S330N	S	-	2	0	NMBR	142438662	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.733000	0.55029	2.640000	0.89533	0.655000	0.94253	AGC		0.488	NMBR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042479.1			22	44	0	0	0	1	0	22	44					T	142396969	C	T	142396969	3	4	435	1	0	0	0	0	1	0	0	0	10487	797	28	3	187	3	NMBR	6	142396969	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	2908637	142396969	28718098	3349	24274											
HIVEP2	3097	broad.mit.edu	37	chr6	143081568	143081568	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgaaggaaccccgtggggtaCggcgccaacattcacaggca	11	5	13	12	3	1	1	1	1	0	0	1	2	1	2	3	5	3	2	3	5	4	2	rs376862866		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:143081568C>T	ENST00000367604.1	-	8	6496	c.5857G>A	c.(5857-5859)Gta>Ata	p.V1953I	HIVEP2_ENST00000367603.2_Missense_Mutation_p.V1953I|HIVEP2_ENST00000012134.2_Missense_Mutation_p.V1953I			P31629	ZEP2_HUMAN	human immunodeficiency virus type I enhancer binding protein 2	1953					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	100				OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)		CCGTGGGGTACGGCGCCAACA	0.478													C|||	1	0.000199681	0	0.0014	5008	,	,		21052	0		0	False		,,,				2504	0				Esophageal Squamous(107;843 1510 13293 16805 42198)	ENST00000367603.2																			0				NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	100						c.(5857-5859)Gta>Ata		human immunodeficiency virus type I enhancer binding protein 2		C	ILE/VAL	1,3901		0,1,1950	98	96	97		5857	5.2	0.6	6		97	0,8266		0,0,4133	no	missense	HIVEP2	NM_006734.3	29	0,1,6083	TT,TC,CC		0.0,0.0256,0.0082	benign	1953/2447	143081568	1,12167	1951	4133	6084	SO:0001583	missense	3097				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:143081568C>T	M60119	CCDS43510.1	6q23-q24	2013-01-08	2001-11-28		ENSG00000010818	ENSG00000010818		"Zinc fingers, C2H2-type"	4921	protein-coding gene	gene with protein product	"c-myc intron binding protein 1"	143054	"human immunodeficiency virus type I enhancer-binding protein 2"			1733857, 2022670	Standard	NM_006734		Approved	MBP-2, HIV-EP2, MIBP1, ZAS2, Schnurri-2, ZNF40B	uc003qjd.3	P31629	OTTHUMG00000015713	ENST00000367604.1:c.5857G>A	6.37:g.143081568C>T	ENSP00000356576:p.Val1953Ile					HIVEP2_ENST00000367604.1_Missense_Mutation_p.V1953I|HIVEP2_ENST00000012134.2_Missense_Mutation_p.V1953I	p.V1953I	NM_006734.3	NP_006725.3	P31629	ZEP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)	9	6599	-			1953					Q02646|Q5THT5|Q9NS05	Missense_Mutation	SNP	ENST00000367604.1	37	c.5857G>A	CCDS43510.1	.	.	.	.	.	.	.	.	.	.	C	11.78	1.741492	0.30865	2.56E-4	0.0	ENSG00000010818	ENST00000367604;ENST00000367603;ENST00000012134	T;T;T	0.02280	4.36;4.36;4.36	6.05	5.18	0.71444	.	0.216683	0.46758	D	0.000277	T	0.00666	0.0022	N	0.14661	0.345	0.26308	N	0.977865	B	0.28880	0.226	B	0.22753	0.041	T	0.49513	-0.8932	10	0.27082	T	0.32	-9.5347	15.2738	0.73726	0.0:0.933:0.0:0.067	.	1953	P31629	ZEP2_HUMAN	I	1953	ENSP00000356576:V1953I;ENSP00000356575:V1953I;ENSP00000012134:V1953I	ENSP00000012134:V1953I	V	-	1	0	HIVEP2	143123261	0.924000	0.31332	0.591000	0.28745	0.958000	0.62258	1.934000	0.40163	1.556000	0.49512	0.650000	0.86243	GTA		0.478	HIVEP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042495.1			13	38	0	0	0	1	0	13	38					T	143081568	C	T	143081568	3	4	435	1	0	0	0	0	1	0	0	0	7187	536	19	1	1491	1	HIVEP2	6	143081568	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	684599	143081568	28033499	3350	24275											
HIVEP2	3097	broad.mit.edu	37	chr6	143092710	143092710	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cgacacaggagcatgggacaGattcccataatcaaatgatt	15	8	9	9	1	1	2	1	1	0	1	2	5	2	4	1	2	1	1	1	2	2	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:143092710G>A	ENST00000367604.1	-	4	3805	c.3166C>T	c.(3166-3168)Ctg>Ttg	p.L1056L	HIVEP2_ENST00000367603.2_Silent_p.L1056L|HIVEP2_ENST00000012134.2_Silent_p.L1056L			P31629	ZEP2_HUMAN	human immunodeficiency virus type I enhancer binding protein 2	1056					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	100				OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)		GCATGGGACAGATTCCCATAA	0.552																																					Esophageal Squamous(107;843 1510 13293 16805 42198)	ENST00000367603.2																			0				NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	100						c.(3166-3168)Ctg>Ttg		human immunodeficiency virus type I enhancer binding protein 2							34	36	35					6																	143092710		1990	4168	6158	SO:0001819	synonymous_variant	3097				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:143092710G>A	M60119	CCDS43510.1	6q23-q24	2013-01-08	2001-11-28		ENSG00000010818	ENSG00000010818		"Zinc fingers, C2H2-type"	4921	protein-coding gene	gene with protein product	"c-myc intron binding protein 1"	143054	"human immunodeficiency virus type I enhancer-binding protein 2"			1733857, 2022670	Standard	NM_006734		Approved	MBP-2, HIV-EP2, MIBP1, ZAS2, Schnurri-2, ZNF40B	uc003qjd.3	P31629	OTTHUMG00000015713	ENST00000367604.1:c.3166C>T	6.37:g.143092710G>A						HIVEP2_ENST00000367604.1_Silent_p.L1056L|HIVEP2_ENST00000012134.2_Silent_p.L1056L	p.L1056L	NM_006734.3	NP_006725.3	P31629	ZEP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)	5	3908	-			1056					Q02646|Q5THT5|Q9NS05	Silent	SNP	ENST00000367604.1	37	c.3166C>T	CCDS43510.1																																																																																				0.552	HIVEP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042495.1			19	14	0	0	0	1	0	19	14					A	143092710	G	A	143092710	2	1	435	1	0	0	0	0	0	0	0	1	7187	933	33	3		3	HIVEP2	6	143092710	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	11142	143092710	28022357	3351	24276											
HIVEP2	3097	broad.mit.edu	37	chr6	143092937	143092937	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	cttctctttcaaaagacatgGagaaactggagctgtgggac	12	10	11	8	0	2	2	1	0	1	2	3	5	2	4	0	3	2	1	0	3	3	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:143092937G>A	ENST00000367604.1	-	4	3578	c.2939C>T	c.(2938-2940)tCc>tTc	p.S980F	HIVEP2_ENST00000367603.2_Missense_Mutation_p.S980F|HIVEP2_ENST00000012134.2_Missense_Mutation_p.S980F			P31629	ZEP2_HUMAN	human immunodeficiency virus type I enhancer binding protein 2	980	Ser-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	100				OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)		AAAAGACATGGAGAAACTGGA	0.512																																					Esophageal Squamous(107;843 1510 13293 16805 42198)	ENST00000367603.2																			0				NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	100						c.(2938-2940)tCc>tTc		human immunodeficiency virus type I enhancer binding protein 2							87	90	89					6																	143092937		1906	4136	6042	SO:0001583	missense	3097				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:143092937G>A	M60119	CCDS43510.1	6q23-q24	2013-01-08	2001-11-28		ENSG00000010818	ENSG00000010818		"Zinc fingers, C2H2-type"	4921	protein-coding gene	gene with protein product	"c-myc intron binding protein 1"	143054	"human immunodeficiency virus type I enhancer-binding protein 2"			1733857, 2022670	Standard	NM_006734		Approved	MBP-2, HIV-EP2, MIBP1, ZAS2, Schnurri-2, ZNF40B	uc003qjd.3	P31629	OTTHUMG00000015713	ENST00000367604.1:c.2939C>T	6.37:g.143092937G>A	ENSP00000356576:p.Ser980Phe					HIVEP2_ENST00000367604.1_Missense_Mutation_p.S980F|HIVEP2_ENST00000012134.2_Missense_Mutation_p.S980F	p.S980F	NM_006734.3	NP_006725.3	P31629	ZEP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)	5	3681	-			980			Ser-rich.		Q02646|Q5THT5|Q9NS05	Missense_Mutation	SNP	ENST00000367604.1	37	c.2939C>T	CCDS43510.1	.	.	.	.	.	.	.	.	.	.	G	24.6	4.549416	0.86127	.	.	ENSG00000010818	ENST00000367604;ENST00000367603;ENST00000012134	T;T;T	0.13657	2.57;2.57;2.57	5.56	5.56	0.83823	.	0.000000	0.85682	D	0.000000	T	0.38108	0.1028	M	0.85462	2.755	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.37619	-0.9698	10	0.87932	D	0	-14.3583	19.5351	0.95247	0.0:0.0:1.0:0.0	.	980	P31629	ZEP2_HUMAN	F	980	ENSP00000356576:S980F;ENSP00000356575:S980F;ENSP00000012134:S980F	ENSP00000012134:S980F	S	-	2	0	HIVEP2	143134630	1.000000	0.71417	0.978000	0.43139	0.984000	0.73092	9.869000	0.99810	2.640000	0.89533	0.655000	0.94253	TCC		0.512	HIVEP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042495.1			28	53	0	0	0	1	0	28	53					A	143092937	G	A	143092937	3	1	435	1	0	0	0	0	1	0	0	0	7187	1174	41	3	4425	3	HIVEP2	6	143092937	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	227	143092937	28022130	3352	24277											
HIVEP2	3097	broad.mit.edu	37	chr6	143094585	143094585	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgcatttctcggactaagccGacagtattttccaaagatga	12	12	8	9	2	1	2	0	1	1	1	3	4	2	3	2	1	2	2	2	1	3	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:143094585G>A	ENST00000367604.1	-	4	1930	c.1291C>T	c.(1291-1293)Cgg>Tgg	p.R431W	HIVEP2_ENST00000367603.2_Missense_Mutation_p.R431W|HIVEP2_ENST00000012134.2_Missense_Mutation_p.R431W			P31629	ZEP2_HUMAN	human immunodeficiency virus type I enhancer binding protein 2	431					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R431W(1)		NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	100				OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)		GGACTAAGCCGACAGTATTTT	0.448																																					Esophageal Squamous(107;843 1510 13293 16805 42198)	ENST00000367603.2																			1	Substitution - Missense(1)	p.R431W(1)	lung(1)	NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	100						c.(1291-1293)Cgg>Tgg		human immunodeficiency virus type I enhancer binding protein 2							110	103	106					6																	143094585		1924	4139	6063	SO:0001583	missense	3097				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:143094585G>A	M60119	CCDS43510.1	6q23-q24	2013-01-08	2001-11-28		ENSG00000010818	ENSG00000010818		"Zinc fingers, C2H2-type"	4921	protein-coding gene	gene with protein product	"c-myc intron binding protein 1"	143054	"human immunodeficiency virus type I enhancer-binding protein 2"			1733857, 2022670	Standard	NM_006734		Approved	MBP-2, HIV-EP2, MIBP1, ZAS2, Schnurri-2, ZNF40B	uc003qjd.3	P31629	OTTHUMG00000015713	ENST00000367604.1:c.1291C>T	6.37:g.143094585G>A	ENSP00000356576:p.Arg431Trp					HIVEP2_ENST00000367604.1_Missense_Mutation_p.R431W|HIVEP2_ENST00000012134.2_Missense_Mutation_p.R431W	p.R431W	NM_006734.3	NP_006725.3	P31629	ZEP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)	5	2033	-			431					Q02646|Q5THT5|Q9NS05	Missense_Mutation	SNP	ENST00000367604.1	37	c.1291C>T	CCDS43510.1	.	.	.	.	.	.	.	.	.	.	G	16.91	3.253111	0.59212	.	.	ENSG00000010818	ENST00000367604;ENST00000367603;ENST00000012134	T;T;T	0.46819	0.86;0.86;0.86	6.06	6.06	0.98353	.	0.000000	0.85682	D	0.000000	T	0.63438	0.2511	M	0.79123	2.44	0.53005	D	0.999965	D	0.89917	1.0	D	0.91635	0.999	T	0.66763	-0.5841	10	0.87932	D	0	-19.3887	13.4791	0.61326	0.0:0.0:0.7446:0.2554	.	431	P31629	ZEP2_HUMAN	W	431	ENSP00000356576:R431W;ENSP00000356575:R431W;ENSP00000012134:R431W	ENSP00000012134:R431W	R	-	1	2	HIVEP2	143136278	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	2.265000	0.43311	2.882000	0.98803	0.655000	0.94253	CGG		0.448	HIVEP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042495.1			22	40	0	0	0	1	0	22	40					A	143094585	G	A	143094585	3	1	435	1	0	0	0	0	1	0	0	0	7187	1057	37	2	6073	2	HIVEP2	6	143094585	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	1648	143094585	28020482	3353	24278											
STX11	8676	broad.mit.edu	37	chr6	144508076	144508076	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggtcatccactgcaagctGcgcgccatgaaggagctgag	10	6	14	11	2	1	2	1	2	0	0	2	4	2	3	2	2	4	3	2	2	2	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:144508076G>A	ENST00000367568.4	+	2	495	c.312G>A	c.(310-312)ctG>ctA	p.L104L		NM_003764.3	NP_003755.2	O75558	STX11_HUMAN	syntaxin 11	104				KL -> NV (in Ref. 1; AAD02107). {ECO:0000305}.	cytotoxic T cell degranulation (GO:0043316)|intracellular protein transport (GO:0006886)|membrane fusion (GO:0061025)|natural killer cell degranulation (GO:0043320)|neutrophil degranulation (GO:0043312)	Golgi apparatus (GO:0005794)|membrane (GO:0016020)	SNAP receptor activity (GO:0005484)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)	12				OV - Ovarian serous cystadenocarcinoma(155;2.17e-06)|GBM - Glioblastoma multiforme(68;0.0492)		ACTGCAAGCTGCGCGCCATGA	0.677									Familial Hemophagocytic Lymphohistiocytosis																													ENST00000367568.4																			0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)	12						c.(310-312)ctG>ctA		syntaxin 11							20	21	21					6																	144508076		2203	4299	6502	SO:0001819	synonymous_variant	8676	Familial Hemophagocytic Lymphohistiocytosis	Familial Cancer Database	FHLH, FHL, Familial Hemophagocytic Reticulosis, FHR	cellular membrane fusion|intracellular protein transport|vesicle-mediated transport	Golgi apparatus|membrane	SNAP receptor activity	g.chr6:144508076G>A	AF044309	CCDS5205.1	6q24.1	2014-09-17			ENSG00000135604	ENSG00000135604			11429	protein-coding gene	gene with protein product		605014				9553086	Standard	NM_003764		Approved		uc003qks.4	O75558	OTTHUMG00000015739	ENST00000367568.4:c.312G>A	6.37:g.144508076G>A							p.L104L	NM_003764.3	NP_003755.2	O75558	STX11_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;2.17e-06)|GBM - Glioblastoma multiforme(68;0.0492)	2	495	+			104	KL -> NV (in Ref. 1; AAD02107).				E1P598|O75378|O95148|Q5TCL6	Silent	SNP	ENST00000367568.4	37	c.312G>A	CCDS5205.1																																																																																				0.677	STX11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042544.1			8	13	0	0	0	1	0	8	13					A	144508076	G	A	144508076	2	1	435	1	0	0	0	0	0	0	0	1	15336	1306	46	3		3	STX11	6	144508076	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	1413491	144508076	26606991	3354	24279											
STX11	8676	broad.mit.edu	37	chr6	144508226	144508226	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggccgagatgaagcagcgCgacaactgcaagatccgcat	13	4	12	12	4	0	3	0	1	0	2	1	5	1	3	2	1	4	3	2	1	3	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:144508226C>T	ENST00000367568.4	+	2	645	c.462C>T	c.(460-462)cgC>cgT	p.R154R		NM_003764.3	NP_003755.2	O75558	STX11_HUMAN	syntaxin 11	154					cytotoxic T cell degranulation (GO:0043316)|intracellular protein transport (GO:0006886)|membrane fusion (GO:0061025)|natural killer cell degranulation (GO:0043320)|neutrophil degranulation (GO:0043312)	Golgi apparatus (GO:0005794)|membrane (GO:0016020)	SNAP receptor activity (GO:0005484)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)	12				OV - Ovarian serous cystadenocarcinoma(155;2.17e-06)|GBM - Glioblastoma multiforme(68;0.0492)		TGAAGCAGCGCGACAACTGCA	0.622									Familial Hemophagocytic Lymphohistiocytosis																													ENST00000367568.4																			0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)	12						c.(460-462)cgC>cgT		syntaxin 11							47	45	45					6																	144508226		2203	4300	6503	SO:0001819	synonymous_variant	8676	Familial Hemophagocytic Lymphohistiocytosis	Familial Cancer Database	FHLH, FHL, Familial Hemophagocytic Reticulosis, FHR	cellular membrane fusion|intracellular protein transport|vesicle-mediated transport	Golgi apparatus|membrane	SNAP receptor activity	g.chr6:144508226C>T	AF044309	CCDS5205.1	6q24.1	2014-09-17			ENSG00000135604	ENSG00000135604			11429	protein-coding gene	gene with protein product		605014				9553086	Standard	NM_003764		Approved		uc003qks.4	O75558	OTTHUMG00000015739	ENST00000367568.4:c.462C>T	6.37:g.144508226C>T							p.R154R	NM_003764.3	NP_003755.2	O75558	STX11_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;2.17e-06)|GBM - Glioblastoma multiforme(68;0.0492)	2	645	+			154					E1P598|O75378|O95148|Q5TCL6	Silent	SNP	ENST00000367568.4	37	c.462C>T	CCDS5205.1																																																																																				0.622	STX11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042544.1			7	15	0	0	0	1	0	7	15					T	144508226	C	T	144508226	2	4	435	1	0	0	0	0	0	0	0	1	15336	755	27	1		1	STX11	6	144508226	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	150	144508226	26606841	3355	24280											
UTRN	7402	broad.mit.edu	37	chr6	144809945	144809945	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cctgactgacaggatagatgCtttccaagttccacaggaag	12	9	10	10	0	0	3	0	2	0	1	2	5	2	5	3	2	1	2	3	2	3	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:144809945C>A	ENST00000367545.3	+	29	4109	c.4109C>A	c.(4108-4110)gCt>gAt	p.A1370D		NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	1370	Interaction with SYNM.				aging (GO:0007568)|muscle cell differentiation (GO:0042692)|muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|neuron projection morphogenesis (GO:0048812)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of sodium ion transmembrane transporter activity (GO:2000649)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dystrophin-associated glycoprotein complex (GO:0016010)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane (GO:0016020)|membrane raft (GO:0045121)|myofibril (GO:0030016)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|protein kinase binding (GO:0019901)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		AGGATAGATGCTTTCCAAGTT	0.488																																						ENST00000367545.3																			0				NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148						c.(4108-4110)gCt>gAt		utrophin							65	56	59					6																	144809945		2203	4300	6503	SO:0001583	missense	7402				muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding	g.chr6:144809945C>A	AK023675	CCDS34547.1	6q24	2008-02-05	2006-12-13		ENSG00000152818	ENSG00000152818			12635	protein-coding gene	gene with protein product		128240	"utrophin (homologous to dystrophin)"	DMDL		1426262	Standard	NM_007124		Approved	DRP, DRP1	uc003qkt.3	P46939	OTTHUMG00000015746	ENST00000367545.3:c.4109C>A	6.37:g.144809945C>A	ENSP00000356515:p.Ala1370Asp						p.A1370D	NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)	29	4109	+		Ovarian(120;0.218)	1370			Interaction with SYNM.		Q5SYY1|Q5SZ57|Q9UJ40	Missense_Mutation	SNP	ENST00000367545.3	37	c.4109C>A	CCDS34547.1	.	.	.	.	.	.	.	.	.	.	C	29.5	5.013801	0.93404	.	.	ENSG00000152818	ENST00000367545	T	0.24723	1.84	5.42	5.42	0.78866	.	0.000000	0.50627	D	0.000113	T	0.47673	0.1458	M	0.73962	2.25	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.47983	-0.9074	10	0.66056	D	0.02	.	19.5799	0.95461	0.0:1.0:0.0:0.0	.	1370	P46939	UTRO_HUMAN	D	1370	ENSP00000356515:A1370D	ENSP00000356515:A1370D	A	+	2	0	UTRN	144851638	1.000000	0.71417	0.999000	0.59377	0.974000	0.67602	7.445000	0.80570	2.695000	0.91970	0.650000	0.86243	GCT		0.488	UTRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042551.1			11	11	1	0	1.08611e-07	1	1.14056e-07	11	11					A	144809945	C	A	144809945	3	1	435	1	0	0	0	0	1	0	0	0	17100	797	28	5	4223	5	UTRN	6	144809945	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	301719	144809945	26305122	3356	24281											
UTRN	7402	broad.mit.edu	37	chr6	144838070	144838070	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tattacttttgcatactagaTacaacaaaattaaggtatta	17	15	4	5	0	0	1	0	0	0	1	0	1	0	1	0	1	5	2	0	1	11	10			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:144838070T>C	ENST00000367545.3	+	38	5527	c.5527T>C	c.(5527-5529)Tac>Cac	p.Y1843H		NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	1843					aging (GO:0007568)|muscle cell differentiation (GO:0042692)|muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|neuron projection morphogenesis (GO:0048812)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of sodium ion transmembrane transporter activity (GO:2000649)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dystrophin-associated glycoprotein complex (GO:0016010)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane (GO:0016020)|membrane raft (GO:0045121)|myofibril (GO:0030016)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|protein kinase binding (GO:0019901)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		GCATACTAGATACAACAAAAT	0.333																																						ENST00000367545.3																			0				NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148						c.(5527-5529)Tac>Cac		utrophin							66	68	67					6																	144838070		2203	4297	6500	SO:0001583	missense	7402				muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding	g.chr6:144838070T>C	AK023675	CCDS34547.1	6q24	2008-02-05	2006-12-13		ENSG00000152818	ENSG00000152818			12635	protein-coding gene	gene with protein product		128240	"utrophin (homologous to dystrophin)"	DMDL		1426262	Standard	NM_007124		Approved	DRP, DRP1	uc003qkt.3	P46939	OTTHUMG00000015746	ENST00000367545.3:c.5527T>C	6.37:g.144838070T>C	ENSP00000356515:p.Tyr1843His						p.Y1843H	NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)	38	5527	+		Ovarian(120;0.218)	1843					Q5SYY1|Q5SZ57|Q9UJ40	Missense_Mutation	SNP	ENST00000367545.3	37	c.5527T>C	CCDS34547.1	.	.	.	.	.	.	.	.	.	.	T	7.661	0.684917	0.14973	.	.	ENSG00000152818	ENST00000367545	T	0.36520	1.25	5.77	3.17	0.36434	.	0.136815	0.33813	N	0.004537	T	0.08935	0.0221	N	0.22421	0.69	0.80722	D	1	B	0.06786	0.001	B	0.08055	0.003	T	0.10109	-1.0644	10	0.15952	T	0.53	.	8.8422	0.35148	0.0:0.2349:0.0:0.7651	.	1843	P46939	UTRO_HUMAN	H	1843	ENSP00000356515:Y1843H	ENSP00000356515:Y1843H	Y	+	1	0	UTRN	144879763	1.000000	0.71417	0.996000	0.52242	0.989000	0.77384	2.179000	0.42528	1.128000	0.42052	0.528000	0.53228	TAC		0.333	UTRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042551.1			27	25	0	0	0	1	0	27	25					C	144838070	T	C	144838070	3	2	435	1	0	0	0	0	1	0	0	0	17100	1406	49	4	5677	4	UTRN	6	144838070	Missense_Mutation	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	28125	144838070	26276997	3357	24282											
UTRN	7402	broad.mit.edu	37	chr6	144999598	144999598	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tttaaaagcattgacggaaaCaggcagaagatggtaaaagc	18	7	11	5	1	0	3	0	1	0	2	0	4	0	4	0	3	3	3	0	3	6	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:144999598C>T	ENST00000367545.3	+	51	7536	c.7536C>T	c.(7534-7536)aaC>aaT	p.N2512N	UTRN_ENST00000367526.4_Silent_p.N67N	NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	2512					aging (GO:0007568)|muscle cell differentiation (GO:0042692)|muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|neuron projection morphogenesis (GO:0048812)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of sodium ion transmembrane transporter activity (GO:2000649)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dystrophin-associated glycoprotein complex (GO:0016010)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane (GO:0016020)|membrane raft (GO:0045121)|myofibril (GO:0030016)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|protein kinase binding (GO:0019901)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		TTGACGGAAACAGGCAGAAGA	0.373																																						ENST00000367545.3																			0				NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148						c.(7534-7536)aaC>aaT		utrophin							84	79	81					6																	144999598		2203	4300	6503	SO:0001819	synonymous_variant	7402				muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding	g.chr6:144999598C>T	AK023675	CCDS34547.1	6q24	2008-02-05	2006-12-13		ENSG00000152818	ENSG00000152818			12635	protein-coding gene	gene with protein product		128240	"utrophin (homologous to dystrophin)"	DMDL		1426262	Standard	NM_007124		Approved	DRP, DRP1	uc003qkt.3	P46939	OTTHUMG00000015746	ENST00000367545.3:c.7536C>T	6.37:g.144999598C>T						UTRN_ENST00000367526.4_Silent_p.N67N	p.N2512N	NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)	51	7536	+		Ovarian(120;0.218)	2512					Q5SYY1|Q5SZ57|Q9UJ40	Silent	SNP	ENST00000367545.3	37	c.7536C>T	CCDS34547.1																																																																																				0.373	UTRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042551.1			21	45	0	0	0	1	0	21	45					T	144999598	C	T	144999598	2	4	435	1	0	0	0	0	0	0	0	1	17100	477	17	3		3	UTRN	6	144999598	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	161528	144999598	26115469	3358	24283											
UTRN	7402	broad.mit.edu	37	chr6	145069579	145069579	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acatgaaggaggcagagtccGtgcggaatggctggaagccc	11	5	16	9	2	0	2	0	1	0	1	1	5	1	5	2	5	2	2	2	5	3	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:145069579G>A	ENST00000367545.3	+	54	8137	c.8137G>A	c.(8137-8139)Gtg>Atg	p.V2713M	UTRN_ENST00000367526.4_Missense_Mutation_p.V268M	NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	2713					aging (GO:0007568)|muscle cell differentiation (GO:0042692)|muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|neuron projection morphogenesis (GO:0048812)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of sodium ion transmembrane transporter activity (GO:2000649)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dystrophin-associated glycoprotein complex (GO:0016010)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane (GO:0016020)|membrane raft (GO:0045121)|myofibril (GO:0030016)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|protein kinase binding (GO:0019901)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		GGCAGAGTCCGTGCGGAATGG	0.488																																						ENST00000367545.3																			0				NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148						c.(8137-8139)Gtg>Atg		utrophin							85	83	84					6																	145069579		2203	4300	6503	SO:0001583	missense	7402				muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding	g.chr6:145069579G>A	AK023675	CCDS34547.1	6q24	2008-02-05	2006-12-13		ENSG00000152818	ENSG00000152818			12635	protein-coding gene	gene with protein product		128240	"utrophin (homologous to dystrophin)"	DMDL		1426262	Standard	NM_007124		Approved	DRP, DRP1	uc003qkt.3	P46939	OTTHUMG00000015746	ENST00000367545.3:c.8137G>A	6.37:g.145069579G>A	ENSP00000356515:p.Val2713Met					UTRN_ENST00000367526.4_Missense_Mutation_p.V268M	p.V2713M	NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)	54	8137	+		Ovarian(120;0.218)	2713					Q5SYY1|Q5SZ57|Q9UJ40	Missense_Mutation	SNP	ENST00000367545.3	37	c.8137G>A	CCDS34547.1	.	.	.	.	.	.	.	.	.	.	G	19.39	3.817757	0.71028	.	.	ENSG00000152818	ENST00000367545;ENST00000367526	T;T	0.50548	0.74;0.74	5.62	5.62	0.85841	.	0.000000	0.45867	D	0.000323	T	0.53674	0.1811	L	0.57536	1.79	0.42403	D	0.99257	D	0.67145	0.996	P	0.56127	0.792	T	0.52779	-0.8530	10	0.49607	T	0.09	.	19.6644	0.95887	0.0:0.0:1.0:0.0	.	2713	P46939	UTRO_HUMAN	M	2713;268	ENSP00000356515:V2713M;ENSP00000356496:V268M	ENSP00000356496:V268M	V	+	1	0	UTRN	145111272	1.000000	0.71417	0.608000	0.28969	0.157000	0.22087	5.381000	0.66208	2.637000	0.89404	0.563000	0.77884	GTG		0.488	UTRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042551.1			24	43	0	0	0	1	0	24	43					A	145069579	G	A	145069579	3	1	435	1	0	0	0	0	1	0	0	0	17100	1145	40	1	8351	1	UTRN	6	145069579	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	69981	145069579	26045488	3359	24284											
FBXO30	84085	broad.mit.edu	37	chr6	146126587	146126587	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tgaagtgccatctgatgatgCcacacagtctccatttgtta	10	13	8	10	0	2	3	0	3	2	0	3	3	2	3	3	0	2	1	3	0	2	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:146126587C>T	ENST00000237281.4	-	2	1121	c.955G>A	c.(955-957)Gca>Aca	p.A319T		NM_032145.4	NP_115521.3	Q8TB52	FBX30_HUMAN	F-box protein 30	319							ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26		Ovarian(120;0.0776)		OV - Ovarian serous cystadenocarcinoma(155;1.95e-07)|GBM - Glioblastoma multiforme(68;0.0149)		TCTGATGATGCCACACAGTCT	0.418																																						ENST00000237281.4																			0				NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						c.(955-957)Gca>Aca		F-box protein 30							125	117	120					6																	146126587		2203	4300	6503	SO:0001583	missense	84085						ubiquitin-protein ligase activity|zinc ion binding	g.chr6:146126587C>T	AF248640	CCDS5208.1	6q24	2008-02-05	2004-06-15		ENSG00000118496	ENSG00000118496		"F-boxes /  "other""	15600	protein-coding gene	gene with protein product		609101	"F-box only protein, helicase, 18"				Standard	XM_005267159		Approved	MGC21674, Fbx30	uc003qla.3	Q8TB52	OTTHUMG00000015749	ENST00000237281.4:c.955G>A	6.37:g.146126587C>T	ENSP00000237281:p.Ala319Thr						p.A319T	NM_032145.4	NP_115521.3	Q8TB52	FBX30_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;1.95e-07)|GBM - Glioblastoma multiforme(68;0.0149)	2	1121	-		Ovarian(120;0.0776)	319					Q9BXZ7	Missense_Mutation	SNP	ENST00000237281.4	37	c.955G>A	CCDS5208.1	.	.	.	.	.	.	.	.	.	.	C	0.017	-1.509305	0.00984	.	.	ENSG00000118496	ENST00000237281	T	0.19669	2.13	5.66	1.56	0.23342	.	0.920237	0.09463	N	0.798758	T	0.06325	0.0163	L	0.40543	1.245	0.09310	N	1	B	0.20671	0.047	B	0.14023	0.01	T	0.38329	-0.9666	10	0.25751	T	0.34	-5.0847	10.2398	0.43305	0.3224:0.4637:0.2139:0.0	.	319	Q8TB52	FBX30_HUMAN	T	319	ENSP00000237281:A319T	ENSP00000237281:A319T	A	-	1	0	FBXO30	146168280	0.721000	0.28007	0.987000	0.45799	0.158000	0.22134	1.356000	0.34079	0.804000	0.34136	0.655000	0.94253	GCA		0.418	FBXO30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042570.2			37	34	0	0	0	1	0	37	34					T	146126587	C	T	146126587	3	4	435	1	0	0	0	0	1	0	0	0	5740	739	26	3	1290	3	FBXO30	6	146126587	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	1057008	146126587	24988480	3360	24285											
SHPRH	257218	broad.mit.edu	37	chr6	146266673	146266673	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctcctgttccgttgaacatcGtatctatatatagaactgac	11	14	6	10	2	1	3	0	2	1	1	4	3	3	3	2	0	2	3	2	0	7	7	rs367700701		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:146266673G>A	ENST00000367505.2	-	8	1686	c.1422C>T	c.(1420-1422)taC>taT	p.Y474Y	SHPRH_ENST00000275233.7_Silent_p.Y474Y|SHPRH_ENST00000367503.3_Silent_p.Y474Y|SHPRH_ENST00000438092.2_Silent_p.Y474Y			Q149N8	SHPRH_HUMAN	SNF2 histone linker PHD RING helicase, E3 ubiquitin protein ligase	474	H15. {ECO:0000255|PROSITE- ProRule:PRU00837}.				DNA repair (GO:0006281)|nucleosome assembly (GO:0006334)|protein polyubiquitination (GO:0000209)	nucleosome (GO:0000786)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(33)|ovary(3)|pancreas(2)|prostate(7)|skin(1)|urinary_tract(1)	79		Ovarian(120;0.0365)		OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124)		GTTGAACATCGTATCTATATA	0.378													G|||	1	0.000199681	0	0	5008	,	,		17053	0		0	False		,,,				2504	0.001					ENST00000367503.3																			0				breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(33)|ovary(3)|pancreas(2)|prostate(7)|skin(1)|urinary_tract(1)	79						c.(1420-1422)taC>taT		SNF2 histone linker PHD RING helicase, E3 ubiquitin protein ligase		G	,	1,3667		0,1,1833	87	78	81		1422,1422	-10.3	0.1	6		81	0,8182		0,0,4091	no	coding-synonymous,coding-synonymous	SHPRH	NM_001042683.2,NM_173082.3	,	0,1,5924	AA,AG,GG		0.0,0.0273,0.0084	,	474/1684,474/1660	146266673	1,11849	1834	4091	5925	SO:0001819	synonymous_variant	257218				DNA repair|nucleosome assembly	nucleosome|nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding	g.chr6:146266673G>A	AB095943	CCDS43513.1, CCDS47496.1, CCDS43513.2	6q24.2	2012-02-23	2012-02-23		ENSG00000146414	ENSG00000146414		"RING-type (C3HC4) zinc fingers"	19336	protein-coding gene	gene with protein product		608048	"SNF2 histone linker PHD RING helicase"			12837266	Standard	NM_001042683		Approved	FLJ90837, KIAA2023, bA545I5.2	uc003qlf.3	Q149N8	OTTHUMG00000015750	ENST00000367505.2:c.1422C>T	6.37:g.146266673G>A						SHPRH_ENST00000275233.7_Silent_p.Y474Y|SHPRH_ENST00000367505.2_Silent_p.Y474Y|SHPRH_ENST00000438092.2_Silent_p.Y474Y	p.Y474Y	NM_001042683.2	NP_001036148.2	Q149N8	SHPRH_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124)	8	1820	-		Ovarian(120;0.0365)	474			H15.		Q149N9|Q5VV79|Q68DS5|Q7Z5J5|Q8IVE8|Q8IWQ9|Q8N1S8|Q8NBR7	Silent	SNP	ENST00000367505.2	37	c.1422C>T	CCDS43513.2																																																																																				0.378	SHPRH-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000042571.2	NM_173082		4	44	0	0	0	1	0	4	44					A	146266673	G	A	146266673	2	1	435	1	0	0	0	0	0	0	0	1	14291	1140	40	1		1	SHPRH	6	146266673	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	140086	146266673	24848394	3361	24286											
GRM1	2911	broad.mit.edu	37	chr6	146720092	146720092	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	atcatcctagctggcatcttCcttggttatgtgtgcccatt	6	16	8	11	0	2	0	1	0	1	0	4	0	4	0	3	2	2	3	3	2	2	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:146720092C>T	ENST00000282753.1	+	7	2152	c.1917C>T	c.(1915-1917)ttC>ttT	p.F639F	GRM1_ENST00000507907.1_Silent_p.F639F|GRM1_ENST00000361719.2_Silent_p.F639F|GRM1_ENST00000355289.4_Silent_p.F639F|GRM1_ENST00000392299.2_Silent_p.F639F|GRM1_ENST00000492807.2_Silent_p.F639F			Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	639					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|cell death (GO:0008219)|cellular response to electrical stimulus (GO:0071257)|dimeric G-protein coupled receptor signaling pathway (GO:0038042)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|G-protein coupled receptor signaling pathway (GO:0007186)|locomotory behavior (GO:0007626)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of pain (GO:0019233)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|G-protein coupled receptor dimeric complex (GO:0038037)|G-protein coupled receptor homodimeric complex (GO:0038038)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)			NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)		CTGGCATCTTCCTTGGTTATG	0.517																																						ENST00000392299.2																			0				NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126						c.(1915-1917)ttC>ttT		glutamate receptor, metabotropic 1	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)						360	295	317					6																	146720092		2203	4300	6503	SO:0001819	synonymous_variant	2911				synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	g.chr6:146720092C>T	U31215	CCDS5209.1, CCDS47497.1, CCDS64548.1	6q24	2014-06-12			ENSG00000152822	ENSG00000152822		"GPCR / Class C : Glutamate receptors, metabotropic", "Glutamate receptors"	4593	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 85"	604473				9076744, 9376535	Standard	NM_001278064		Approved	GPRC1A, mGlu1, MGLUR1, PPP1R85	uc010khw.2	Q13255	OTTHUMG00000015752	ENST00000282753.1:c.1917C>T	6.37:g.146720092C>T						GRM1_ENST00000355289.4_Silent_p.F639F|GRM1_ENST00000282753.1_Silent_p.F639F|GRM1_ENST00000507907.1_Silent_p.F639F|GRM1_ENST00000492807.2_Silent_p.F639F|GRM1_ENST00000361719.2_Silent_p.F639F	p.F639F			Q13255	GRM1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	8	2387	+		Ovarian(120;0.0387)	639					B9EG79|F8W805|Q13256|Q14757|Q14758|Q5VTF7|Q5VTF8|Q9NU10|Q9UGS9|Q9UGT0	Silent	SNP	ENST00000282753.1	37	c.1917C>T	CCDS5209.1																																																																																				0.517	GRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042574.1	NM_000838		4	123	0	0	0	1	0	4	123					T	146720092	C	T	146720092	2	4	435	1	0	0	0	0	0	0	0	1	6796	854	30	3		3	GRM1	6	146720092	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	453419	146720092	24394975	3362	24287											
GRM1	2911	broad.mit.edu	37	chr6	146755582	146755582	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cgcagcacctgcagatgctgCcgctgcagctgagcaccttt	7	8	11	15	2	0	2	0	1	0	1	0	2	0	2	3	0	7	8	3	0	0	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:146755582C>T	ENST00000282753.1	+	8	3470	c.3235C>T	c.(3235-3237)Ccg>Tcg	p.P1079S	GRM1_ENST00000507907.1_3'UTR|GRM1_ENST00000361719.2_Missense_Mutation_p.P1079S|GRM1_ENST00000355289.4_3'UTR|GRM1_ENST00000392299.2_3'UTR|GRM1_ENST00000492807.2_3'UTR			Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	1079	Gln/Pro-rich.				activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|cell death (GO:0008219)|cellular response to electrical stimulus (GO:0071257)|dimeric G-protein coupled receptor signaling pathway (GO:0038042)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|G-protein coupled receptor signaling pathway (GO:0007186)|locomotory behavior (GO:0007626)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of pain (GO:0019233)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|G-protein coupled receptor dimeric complex (GO:0038037)|G-protein coupled receptor homodimeric complex (GO:0038038)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)			NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)		GCAGATGCTGCCGCTGCAGCT	0.682																																						ENST00000361719.2																			0				NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126						c.(3235-3237)Ccg>Tcg		glutamate receptor, metabotropic 1	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)						41	46	44					6																	146755582		2200	4298	6498	SO:0001583	missense	2911				synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	g.chr6:146755582C>T	U31215	CCDS5209.1, CCDS47497.1, CCDS64548.1	6q24	2014-06-12			ENSG00000152822	ENSG00000152822		"GPCR / Class C : Glutamate receptors, metabotropic", "Glutamate receptors"	4593	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 85"	604473				9076744, 9376535	Standard	NM_001278064		Approved	GPRC1A, mGlu1, MGLUR1, PPP1R85	uc010khw.2	Q13255	OTTHUMG00000015752	ENST00000282753.1:c.3235C>T	6.37:g.146755582C>T	ENSP00000282753:p.Pro1079Ser					GRM1_ENST00000355289.4_3'UTR|GRM1_ENST00000282753.1_Missense_Mutation_p.P1079S|GRM1_ENST00000507907.1_3'UTR|GRM1_ENST00000392299.2_3'UTR|GRM1_ENST00000492807.2_3'UTR	p.P1079S	NM_001278064.1	NP_001264993.1	Q13255	GRM1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	9	3705	+		Ovarian(120;0.0387)	1079			Gln/Pro-rich.		B9EG79|F8W805|Q13256|Q14757|Q14758|Q5VTF7|Q5VTF8|Q9NU10|Q9UGS9|Q9UGT0	Missense_Mutation	SNP	ENST00000282753.1	37	c.3235C>T	CCDS5209.1	.	.	.	.	.	.	.	.	.	.	C	17.51	3.407060	0.62399	.	.	ENSG00000152822	ENST00000361719;ENST00000282753	D;D	0.93019	-3.15;-3.15	5.52	5.52	0.82312	.	0.100369	0.64402	D	0.000001	D	0.89825	0.6827	L	0.54323	1.7	0.80722	D	1	P	0.37061	0.58	B	0.35114	0.196	D	0.91086	0.4903	10	0.72032	D	0.01	.	19.4415	0.94823	0.0:1.0:0.0:0.0	.	1079	Q13255	GRM1_HUMAN	S	1079	ENSP00000354896:P1079S;ENSP00000282753:P1079S	ENSP00000282753:P1079S	P	+	1	0	GRM1	146797275	1.000000	0.71417	1.000000	0.80357	0.918000	0.54935	4.468000	0.60162	2.598000	0.87819	0.462000	0.41574	CCG		0.682	GRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042574.1	NM_000838		17	55	0	0	0	1	0	17	55					T	146755582	C	T	146755582	3	4	435	1	0	0	0	0	1	0	0	0	6796	739	26	3	3330	3	GRM1	6	146755582	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	35490	146755582	24359485	3363	24288											
RAB32	10981	broad.mit.edu	37	chr6	146865059	146865059	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggggcggccgccgccccaGcgcccgagacccgcgagcac	5	1	16	19	7	0	1	0	0	0	1	0	3	0	1	6	3	2	1	6	3	0	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:146865059G>A	ENST00000367495.3	+	1	231	c.52G>A	c.(52-54)Gcg>Acg	p.A18T		NM_006834.3	NP_006825.1	Q13637	RAB32_HUMAN	RAB32, member RAS oncogene family	18					antigen processing and presentation (GO:0019882)|endosome to melanosome transport (GO:0035646)|GTP catabolic process (GO:0006184)|melanosome organization (GO:0032438)|phagosome maturation (GO:0090382)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	early endosome (GO:0005769)|melanosome (GO:0042470)|membrane (GO:0016020)|mitochondrion (GO:0005739)|phagocytic vesicle (GO:0045335)	AP-1 adaptor complex binding (GO:0035650)|AP-3 adaptor complex binding (GO:0035651)|GTP binding (GO:0005525)|GTP-dependent protein binding (GO:0030742)|GTPase activity (GO:0003924)|protein complex binding (GO:0032403)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)	8		Ovarian(120;0.142)		OV - Ovarian serous cystadenocarcinoma(155;2.68e-09)|GBM - Glioblastoma multiforme(68;0.00608)		cgccgccccagcgcccgAGAC	0.726																																						ENST00000367495.3																			0				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)	8						c.(52-54)Gcg>Acg		RAB32, member RAS oncogene family							17	18	17					6																	146865059		2195	4293	6488	SO:0001583	missense	10981				protein transport|small GTPase mediated signal transduction	mitochondrion	GTP binding	g.chr6:146865059G>A	U71127	CCDS5210.1	6q24.2	2010-08-20			ENSG00000118508	ENSG00000118508		"RAB, member RAS oncogene", "A-kinase anchor proteins"	9772	protein-coding gene	gene with protein product		612906					Standard	NM_006834		Approved		uc003qln.1	Q13637	OTTHUMG00000015755	ENST00000367495.3:c.52G>A	6.37:g.146865059G>A	ENSP00000356465:p.Ala18Thr						p.A18T	NM_006834.3	NP_006825.1	Q13637	RAB32_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;2.68e-09)|GBM - Glioblastoma multiforme(68;0.00608)	1	231	+		Ovarian(120;0.142)	18						Missense_Mutation	SNP	ENST00000367495.3	37	c.52G>A	CCDS5210.1	.	.	.	.	.	.	.	.	.	.	G	16.38	3.106720	0.56291	.	.	ENSG00000118508	ENST00000367495	T	0.72051	-0.62	4.33	3.45	0.39498	.	0.727014	0.13093	N	0.414348	T	0.31199	0.0789	N	0.14661	0.345	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.21415	-1.0246	10	0.30854	T	0.27	0.9437	9.9871	0.41847	0.102:0.0:0.898:0.0	.	18	Q13637	RAB32_HUMAN	T	18	ENSP00000356465:A18T	ENSP00000356465:A18T	A	+	1	0	RAB32	146906752	.	.	0.004000	0.12327	0.004000	0.04260	.	.	0.819000	0.34492	-0.266000	0.10368	GCG		0.726	RAB32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042579.1	NM_006834		6	13	0	0	0	1	0	6	13					A	146865059	G	A	146865059	3	1	435	1	0	0	0	0	1	0	0	0	12921	971	34	3	54	3	RAB32	6	146865059	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	109477	146865059	24250008	3364	24289											
STXBP5	134957	broad.mit.edu	37	chr6	147637445	147637445	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaccacctttgccaacaccCgtgggagggtccaaccctca	9	6	8	18	1	1	0	1	0	0	0	2	1	2	1	7	2	3	0	7	2	2	1	rs142531466		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:147637445C>A	ENST00000321680.6	+	16	1704	c.1704C>A	c.(1702-1704)ccC>ccA	p.P568P	STXBP5_ENST00000367480.3_Silent_p.P568P|STXBP5_ENST00000367481.3_Silent_p.P568P|STXBP5_ENST00000179882.6_Silent_p.P239P	NM_001127715.2	NP_001121187.1	Q5T5C0	STXB5_HUMAN	syntaxin binding protein 5 (tomosyn)	568					exocytosis (GO:0006887)|negative regulation of exocytosis (GO:0045920)|positive regulation of exocytosis (GO:0045921)|protein transport (GO:0015031)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|synapse (GO:0045202)	syntaxin-1 binding (GO:0017075)			breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	42		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;1.77e-09)|GBM - Glioblastoma multiforme(68;0.0694)		TGCCAACACCCGTGGGAGGGT	0.468																																						ENST00000367481.3																			0				breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	42						c.(1702-1704)ccC>ccA		syntaxin binding protein 5 (tomosyn)							85	84	85					6																	147637445		2203	4300	6503	SO:0001819	synonymous_variant	0				exocytosis|positive regulation of exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|nicotinic acetylcholine-gated receptor-channel complex|synaptic vesicle	syntaxin-1 binding	g.chr6:147637445C>A	AK055484	CCDS5211.1, CCDS47499.1	6q24.3	2013-01-10			ENSG00000164506	ENSG00000164506		"WD repeat domain containing"	19665	protein-coding gene	gene with protein product		604586				9620695, 14767561	Standard	NM_139244		Approved	tomosyn, LLGL3	uc010khz.2	Q5T5C0	OTTHUMG00000015766	ENST00000321680.6:c.1704C>A	6.37:g.147637445C>A						STXBP5_ENST00000367480.3_Silent_p.P568P|STXBP5_ENST00000321680.6_Silent_p.P568P|STXBP5_ENST00000179882.6_Silent_p.P239P	p.P568P	NM_139244.4	NP_640337.3	Q5T5C0	STXB5_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;1.77e-09)|GBM - Glioblastoma multiforme(68;0.0694)	16	1812	+		Ovarian(120;0.0164)	568					Q14DF3|Q5T5C1|Q5T5C2|Q8NBG8|Q96NG9	Silent	SNP	ENST00000321680.6	37	c.1704C>A	CCDS47499.1																																																																																				0.468	STXBP5-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042606.1			16	20	1	0	2.23348e-06	1	2.32236e-06	16	20					A	147637445	C	A	147637445	2	1	435	1	0	0	0	0	0	0	0	1	15355	639	23	5		5	STXBP5	6	147637445	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	772386	147637445	23477622	3365	24290											
STXBP5	134957	broad.mit.edu	37	chr6	147648402	147648402	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctcctcgtaaatctcgacaGccttcaggaggtaaaaagaa	14	9	8	10	2	3	1	1	0	2	1	6	3	3	2	2	2	1	2	2	2	6	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:147648402G>T	ENST00000321680.6	+	18	2070	c.2070G>T	c.(2068-2070)caG>caT	p.Q690H	STXBP5_ENST00000367480.3_Missense_Mutation_p.Q690H|STXBP5_ENST00000367481.3_Missense_Mutation_p.Q690H|STXBP5_ENST00000179882.6_Missense_Mutation_p.Q361H	NM_001127715.2	NP_001121187.1	Q5T5C0	STXB5_HUMAN	syntaxin binding protein 5 (tomosyn)	690					exocytosis (GO:0006887)|negative regulation of exocytosis (GO:0045920)|positive regulation of exocytosis (GO:0045921)|protein transport (GO:0015031)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|synapse (GO:0045202)	syntaxin-1 binding (GO:0017075)			breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	42		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;1.77e-09)|GBM - Glioblastoma multiforme(68;0.0694)		AATCTCGACAGCCTTCAGGAG	0.383																																						ENST00000367481.3																			0				breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	42						c.(2068-2070)caG>caT		syntaxin binding protein 5 (tomosyn)							73	71	71					6																	147648402		2203	4300	6503	SO:0001583	missense	0				exocytosis|positive regulation of exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|nicotinic acetylcholine-gated receptor-channel complex|synaptic vesicle	syntaxin-1 binding	g.chr6:147648402G>T	AK055484	CCDS5211.1, CCDS47499.1	6q24.3	2013-01-10			ENSG00000164506	ENSG00000164506		"WD repeat domain containing"	19665	protein-coding gene	gene with protein product		604586				9620695, 14767561	Standard	NM_139244		Approved	tomosyn, LLGL3	uc010khz.2	Q5T5C0	OTTHUMG00000015766	ENST00000321680.6:c.2070G>T	6.37:g.147648402G>T	ENSP00000321826:p.Gln690His					STXBP5_ENST00000367480.3_Missense_Mutation_p.Q690H|STXBP5_ENST00000321680.6_Missense_Mutation_p.Q690H|STXBP5_ENST00000179882.6_Missense_Mutation_p.Q361H	p.Q690H	NM_139244.4	NP_640337.3	Q5T5C0	STXB5_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;1.77e-09)|GBM - Glioblastoma multiforme(68;0.0694)	18	2178	+		Ovarian(120;0.0164)	690					Q14DF3|Q5T5C1|Q5T5C2|Q8NBG8|Q96NG9	Missense_Mutation	SNP	ENST00000321680.6	37	c.2070G>T	CCDS47499.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.56|18.56	3.651382|3.651382	0.67472|0.67472	.|.	.|.	ENSG00000164506|ENSG00000164506	ENST00000367475|ENST00000367479;ENST00000367481;ENST00000321680;ENST00000367480;ENST00000179882;ENST00000392291	.|T;T;T;T;T	.|0.26373	.|1.74;1.74;1.74;1.74;1.74	6.07|6.07	-2.66|-2.66	0.06077|0.06077	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.33352|0.33352	0.0860|0.0860	M|M	0.73962|0.73962	2.25|2.25	0.58432|0.58432	D|D	0.999996|0.999996	.|D;D;D;D	.|0.89917	.|0.998;1.0;0.997;0.997	.|D;D;D;D	.|0.91635	.|0.994;0.999;0.991;0.99	T|T	0.37314|0.37314	-0.9711|-0.9711	5|10	.|0.72032	.|D	.|0.01	.|.	11.7645|11.7645	0.51922|0.51922	0.5455:0.0:0.4545:0.0|0.5455:0.0:0.4545:0.0	.|.	.|690;31;690;361	.|Q5T5C0-2;Q5JRH1;Q5T5C0;B3KXX0	.|.;.;STXB5_HUMAN;.	S|H	32|37;690;690;690;361;22	.|ENSP00000356451:Q690H;ENSP00000321826:Q690H;ENSP00000356450:Q690H;ENSP00000179882:Q361H;ENSP00000376112:Q22H	.|ENSP00000179882:Q361H	A|Q	+|+	1|3	0|2	STXBP5|STXBP5	147690095|147690095	0.664000|0.664000	0.27457|0.27457	0.973000|0.973000	0.42090|0.42090	0.989000|0.989000	0.77384|0.77384	-0.062000|-0.062000	0.11674|0.11674	-0.674000|-0.674000	0.05253|0.05253	-0.324000|-0.324000	0.08512|0.08512	GCC|CAG		0.383	STXBP5-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042606.1			26	43	1	0	4.72057e-08	1	4.96844e-08	26	43					T	147648402	G	T	147648402	3	4	435	1	0	0	0	0	1	0	0	0	15355	962	34	5	2140	5	STXBP5	6	147648402	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	10957	147648402	23466665	3366	24291											
SASH1	23328	broad.mit.edu	37	chr6	148865629	148865629	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctgttcccatgggccccaGtggggccctccccagtcccg	3	7	11	20	1	0	0	0	0	0	0	3	0	3	0	8	3	0	1	8	3	0	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:148865629G>A	ENST00000367467.3	+	18	3498	c.3023G>A	c.(3022-3024)aGt>aAt	p.S1008N		NM_015278.3	NP_056093.3	O94885	SASH1_HUMAN	SAM and SH3 domain containing 1	1008	Pro-rich.				positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of lipopolysaccharide-mediated signaling pathway (GO:0031666)|positive regulation of NIK/NF-kappaB signaling (GO:1901224)|positive regulation of p38MAPK cascade (GO:1900745)|protein polyubiquitination (GO:0000209)|regulation of protein autoubiquitination (GO:1902498)|regulation of protein K63-linked ubiquitination (GO:1900044)	membrane (GO:0016020)|protein complex (GO:0043234)	mitogen-activated protein kinase kinase kinase binding (GO:0031435)|protein C-terminus binding (GO:0008022)|protein complex scaffold (GO:0032947)|protein kinase binding (GO:0019901)			breast(4)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Ovarian(120;0.0169)		OV - Ovarian serous cystadenocarcinoma(155;5.63e-11)|GBM - Glioblastoma multiforme(68;0.0701)		ATGGGCCCCAGTGGGGCCCTC	0.637																																						ENST00000367467.3																			0				breast(4)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						c.(3022-3024)aGt>aAt		SAM and SH3 domain containing 1							34	40	38					6																	148865629		2203	4300	6503	SO:0001583	missense	23328						protein binding	g.chr6:148865629G>A	AB018333	CCDS5212.1	6q24.3	2013-01-10			ENSG00000111961	ENSG00000111961		"SAM and SH3 domain containing", "Sterile alpha motif (SAM) domain containing"	19182	protein-coding gene	gene with protein product		607955				9872452, 12771949	Standard	NM_015278		Approved	KIAA0790, dJ323M4.1, SH3D6A	uc003qme.1	O94885	OTTHUMG00000015773	ENST00000367467.3:c.3023G>A	6.37:g.148865629G>A	ENSP00000356437:p.Ser1008Asn						p.S1008N	NM_015278.3	NP_056093.3	O94885	SASH1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.63e-11)|GBM - Glioblastoma multiforme(68;0.0701)	18	3498	+		Ovarian(120;0.0169)	1008			Pro-rich.		Q5TGN5|Q8TAI0|Q9H7R7	Missense_Mutation	SNP	ENST00000367467.3	37	c.3023G>A	CCDS5212.1	.	.	.	.	.	.	.	.	.	.	G	3.722	-0.057374	0.07317	.	.	ENSG00000111961	ENST00000367467;ENST00000537769	T	0.42900	0.96	3.54	0.214	0.15249	.	0.359416	0.26832	N	0.022264	T	0.11153	0.0272	L	0.27053	0.805	0.09310	N	1	B;B	0.19583	0.037;0.01	B;B	0.15870	0.014;0.007	T	0.33929	-0.9849	10	0.21540	T	0.41	-1.4757	13.2785	0.60200	0.0:0.5668:0.4332:0.0	.	989;1008	Q6P4R9;O94885	.;SASH1_HUMAN	N	1008;418	ENSP00000356437:S1008N	ENSP00000356437:S1008N	S	+	2	0	SASH1	148907322	0.096000	0.21769	0.000000	0.03702	0.023000	0.10783	0.777000	0.26718	-0.001000	0.14495	-0.156000	0.13503	AGT		0.637	SASH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042619.1	NM_015278		15	34	0	0	0	1	0	15	34					A	148865629	G	A	148865629	3	1	435	1	0	0	0	0	1	0	0	0	13848	1029	36	3	3093	3	SASH1	6	148865629	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	1217227	148865629	22249438	3367	24292											
ZC3H12D	340152	broad.mit.edu	37	chr6	149773850	149773850	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggcccagggggtcatcaggcGgcatgaacctggaaaataag	12	5	15	9	1	2	1	2	1	0	0	2	2	2	2	2	6	1	1	2	6	4	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:149773850G>A	ENST00000409806.3	-	5	1007	c.689C>T	c.(688-690)cCg>cTg	p.P230L	ZC3H12D_ENST00000542614.1_Missense_Mutation_p.P230L|ZC3H12D_ENST00000416573.2_Missense_Mutation_p.P230L|ZC3H12D_ENST00000389942.5_Missense_Mutation_p.P230L			A2A288	ZC12D_HUMAN	zinc finger CCCH-type containing 12D	230					negative regulation of cell growth (GO:0030308)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|prostate(1)	6		Ovarian(120;0.0907)		OV - Ovarian serous cystadenocarcinoma(155;1.23e-11)|GBM - Glioblastoma multiforme(68;0.0921)		GTCATCAGGCGGCATGAACCT	0.587																																						ENST00000389942.5																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|prostate(1)	6						c.(688-690)cCg>cTg		zinc finger CCCH-type containing 12D							26	31	29					6																	149773850		1948	4127	6075	SO:0001583	missense	340152					cytoplasm|nucleus	endonuclease activity|nucleic acid binding|zinc ion binding	g.chr6:149773850G>A			6q25.1	2012-07-05	2005-06-30	2005-06-30	ENSG00000178199	ENSG00000178199		"Zinc fingers, CCCH-type domain containing"	21175	protein-coding gene	gene with protein product	"MCP induced protein 4"	611106	"chromosome 6 open reading frame 95"	C6orf95		18178554	Standard	NM_207360		Approved	dJ281H8.1, MCPIP4	uc010kid.3	A2A288	OTTHUMG00000015786	ENST00000409806.3:c.689C>T	6.37:g.149773850G>A	ENSP00000386616:p.Pro230Leu					ZC3H12D_ENST00000416573.2_Missense_Mutation_p.P230L|ZC3H12D_ENST00000409806.3_Missense_Mutation_p.P230L|ZC3H12D_ENST00000542614.1_Missense_Mutation_p.P230L	p.P230L			A2A288	ZC12D_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;1.23e-11)|GBM - Glioblastoma multiforme(68;0.0921)	5	936	-		Ovarian(120;0.0907)	230					A1L178|B2RXF4|B7WNU7|B9ZZP9|B9ZZQ0|Q6ZRW2	Missense_Mutation	SNP	ENST00000409806.3	37	c.689C>T		.	.	.	.	.	.	.	.	.	.	G	28.2	4.895427	0.91962	.	.	ENSG00000178199	ENST00000389942;ENST00000416573;ENST00000409806;ENST00000542614	T;T;T;T	0.38722	1.12;1.12;1.12;1.12	4.6	4.6	0.57074	Ribonuclease Zc3h12a-like (1);	0.065391	0.64402	D	0.000008	T	0.59715	0.2214	M	0.73962	2.25	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.65681	-0.6109	10	0.87932	D	0	-13.756	17.6256	0.88093	0.0:0.0:1.0:0.0	.	230;230	A2A288;B7WNU7	ZC12D_HUMAN;.	L	230	ENSP00000374592:P230L;ENSP00000408686:P230L;ENSP00000386616:P230L;ENSP00000440813:P230L	ENSP00000374592:P230L	P	-	2	0	ZC3H12D	149815543	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	7.268000	0.78473	2.395000	0.81488	0.561000	0.74099	CCG		0.587	ZC3H12D-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000286400.2	NM_207360		4	3	0	0	0	1	0	4	3					A	149773850	G	A	149773850	3	1	435	1	0	0	0	0	1	0	0	0	17561	1116	39	2	902	2	ZC3H12D	6	149773850	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	908221	149773850	21341217	3368	24293											
PPIL4	85313	broad.mit.edu	37	chr6	149826637	149826637	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttggacttctttggacttctGcttcggtctctctttttact	3	21	7	10	1	4	0	0	0	4	0	6	2	4	2	0	3	2	1	0	3	1	8			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:149826637G>A	ENST00000253329.2	-	13	1463	c.1431C>T	c.(1429-1431)agC>agT	p.S477S	PPIL4_ENST00000340881.2_Missense_Mutation_p.A110V	NM_139126.3	NP_624311.1	Q8WUA2	PPIL4_HUMAN	peptidylprolyl isomerase (cyclophilin)-like 4	477					protein folding (GO:0006457)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|poly(A) RNA binding (GO:0044822)			endometrium(2)|kidney(4)|large_intestine(1)|lung(4)|prostate(1)|urinary_tract(1)	13		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;1.11e-11)|GBM - Glioblastoma multiforme(68;0.0885)		TTGGACTTCTGCTTCGGTCTC	0.353																																						ENST00000340881.2																			0				endometrium(2)|kidney(4)|large_intestine(1)|lung(4)|prostate(1)|urinary_tract(1)	13						c.(328-330)gCa>gTa		peptidylprolyl isomerase (cyclophilin)-like 4							187	175	179					6																	149826637		2203	4300	6503	SO:0001819	synonymous_variant	85313				protein folding	nucleus	nucleotide binding|peptidyl-prolyl cis-trans isomerase activity|RNA binding	g.chr6:149826637G>A		CCDS34550.1	6q25.1	2013-02-12			ENSG00000131013	ENSG00000131013		"RNA binding motif (RRM) containing"	15702	protein-coding gene	gene with protein product		607609					Standard	NM_139126		Approved		uc003qmo.2	Q8WUA2	OTTHUMG00000015788	ENST00000253329.2:c.1431C>T	6.37:g.149826637G>A						PPIL4_ENST00000253329.2_Silent_p.S477S	p.A110V			Q8WUA2	PPIL4_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;1.11e-11)|GBM - Glioblastoma multiforme(68;0.0885)	3	862	-		Ovarian(120;0.0164)	476			PPIase cyclophilin-type.		B2RD34|Q7Z3Q5	Missense_Mutation	SNP	ENST00000253329.2	37	c.329C>T	CCDS34550.1	.	.	.	.	.	.	.	.	.	.	G	12.54	1.969874	0.34754	.	.	ENSG00000131013	ENST00000340881	.	.	.	6.05	3.34	0.38264	.	.	.	.	.	T	0.28599	0.0708	.	.	.	0.22081	N	0.999377	.	.	.	.	.	.	T	0.16158	-1.0412	5	0.87932	D	0	.	9.4519	0.38731	0.2767:0.0:0.7233:0.0	.	.	.	.	V	110	.	ENSP00000344128:A110V	A	-	2	0	PPIL4	149868330	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	1.302000	0.33459	0.911000	0.36747	-0.142000	0.14014	GCA		0.353	PPIL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042642.1			23	41	0	0	0	1	0	23	41					A	149826637	G	A	149826637	2	1	435	1	0	0	0	0	0	0	0	1	12329	1310	46	3		3	PPIL4	6	149826637	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	52787	149826637	21288430	3369	24294											
PPIL4	85313	broad.mit.edu	37	chr6	149833429	149833429	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgctcatctaatataagatcGtattttgtactgcagtagtt	11	17	7	6	1	2	1	1	0	1	1	3	1	2	1	0	0	3	6	0	0	6	9	rs368515515		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:149833429G>A	ENST00000253329.2	-	12	1121	c.1089C>T	c.(1087-1089)taC>taT	p.Y363Y	PPIL4_ENST00000340881.2_De_novo_Start_InFrame	NM_139126.3	NP_624311.1	Q8WUA2	PPIL4_HUMAN	peptidylprolyl isomerase (cyclophilin)-like 4	363	Lys-rich.				protein folding (GO:0006457)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|poly(A) RNA binding (GO:0044822)			endometrium(2)|kidney(4)|large_intestine(1)|lung(4)|prostate(1)|urinary_tract(1)	13		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;1.11e-11)|GBM - Glioblastoma multiforme(68;0.0885)		ATATAAGATCGTATTTTGTAC	0.348																																						ENST00000340881.2																			0				endometrium(2)|kidney(4)|large_intestine(1)|lung(4)|prostate(1)|urinary_tract(1)	13								peptidylprolyl isomerase (cyclophilin)-like 4		G		1,4403	2.1+/-5.4	0,1,2201	161	150	154		1089	-4.2	0.9	6		154	0,8600		0,0,4300	no	coding-synonymous	PPIL4	NM_139126.3		0,1,6501	AA,AG,GG		0.0,0.0227,0.0077		363/493	149833429	1,13003	2202	4300	6502	SO:0001819	synonymous_variant	85313				protein folding	nucleus	nucleotide binding|peptidyl-prolyl cis-trans isomerase activity|RNA binding	g.chr6:149833429G>A		CCDS34550.1	6q25.1	2013-02-12			ENSG00000131013	ENSG00000131013		"RNA binding motif (RRM) containing"	15702	protein-coding gene	gene with protein product		607609					Standard	NM_139126		Approved		uc003qmo.2	Q8WUA2	OTTHUMG00000015788	ENST00000253329.2:c.1089C>T	6.37:g.149833429G>A						PPIL4_ENST00000253329.2_Silent_p.Y363Y				Q8WUA2	PPIL4_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;1.11e-11)|GBM - Glioblastoma multiforme(68;0.0885)	0	520	-		Ovarian(120;0.0164)						B2RD34|Q7Z3Q5	Translation_Start_Site	SNP	ENST00000253329.2	37		CCDS34550.1																																																																																				0.348	PPIL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042642.1			5	83	0	0	0	1	0	5	83					A	149833429	G	A	149833429	2	1	435	1	0	0	0	0	0	0	0	1	12329	1140	40	1		1	PPIL4	6	149833429	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	6792	149833429	21281638	3370	24295											
LATS1	9113	broad.mit.edu	37	chr6	150023045	150023045	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgcaaggctttatgatgcGtcccaaatttgggtggattt	8	14	11	8	1	0	1	0	1	0	0	1	2	1	2	2	3	2	2	2	3	3	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:150023045G>A	ENST00000543571.1	-	2	765	c.218C>T	c.(217-219)aCg>aTg	p.T73M	LATS1_ENST00000392273.3_Missense_Mutation_p.T73M|LATS1_ENST00000542747.1_5'UTR|LATS1_ENST00000253339.5_Missense_Mutation_p.T73M	NM_004690.3	NP_004681.1			large tumor suppressor kinase 1											central_nervous_system(1)|lung(5)	6		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;6.93e-13)|GBM - Glioblastoma multiforme(68;0.116)		TTTATGATGCGTCCCAAATTT	0.393																																						ENST00000543571.1																			0				central_nervous_system(1)|lung(5)	6						c.(217-219)aCg>aTg		large tumor suppressor kinase 1							185	177	180					6																	150023045		2203	4300	6503	SO:0001583	missense	9113				cell division|cytoplasmic sequestering of protein|G2/M transition of mitotic cell cycle|hippo signaling cascade|hormone-mediated signaling pathway|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|positive regulation of peptidyl-serine phosphorylation|regulation of actin filament polymerization|sister chromatid segregation	microtubule organizing center|spindle pole	ATP binding|magnesium ion binding|protein kinase binding|protein serine/threonine kinase activity	g.chr6:150023045G>A	AF104413	CCDS34551.1, CCDS59040.1	6q25.1	2013-04-25	2013-04-25		ENSG00000131023	ENSG00000131023			6514	protein-coding gene	gene with protein product		603473	"LATS (large tumor suppressor, Drosophila) homolog 1", "LATS, large tumor suppressor, homolog 1 (Drosophila)"			9988268, 15122335	Standard	NM_004690		Approved	WARTS	uc003qmu.2	O95835	OTTHUMG00000016437	ENST00000543571.1:c.218C>T	6.37:g.150023045G>A	ENSP00000437550:p.Thr73Met					LATS1_ENST00000392273.3_Missense_Mutation_p.T73M|LATS1_ENST00000542747.1_5'UTR|LATS1_ENST00000253339.5_Missense_Mutation_p.T73M	p.T73M	NM_004690.3	NP_004681.1	O95835	LATS1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;6.93e-13)|GBM - Glioblastoma multiforme(68;0.116)	2	765	-		Ovarian(120;0.0164)	73						Missense_Mutation	SNP	ENST00000543571.1	37	c.218C>T	CCDS34551.1	.	.	.	.	.	.	.	.	.	.	G	17.27	3.347797	0.61183	.	.	ENSG00000131023	ENST00000543571;ENST00000253339;ENST00000392273	T;T;T	0.25414	1.8;1.8;1.8	5.42	3.54	0.40534	.	0.224693	0.30999	N	0.008455	T	0.09113	0.0225	L	0.44542	1.39	0.34858	D	0.742304	B;B	0.19583	0.018;0.037	B;B	0.16722	0.011;0.016	T	0.09907	-1.0653	9	.	.	.	.	11.4052	0.49894	0.1519:0.0:0.8481:0.0	.	73;73	O95835-2;O95835	.;LATS1_HUMAN	M	73	ENSP00000437550:T73M;ENSP00000253339:T73M;ENSP00000444678:T73M	.	T	-	2	0	LATS1	150064738	1.000000	0.71417	0.716000	0.30569	0.907000	0.53573	3.289000	0.51747	0.762000	0.33152	0.561000	0.74099	ACG		0.393	LATS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043923.4	NM_004690		5	137	0	0	0	1	0	5	137					A	150023045	G	A	150023045	3	1	435	1	0	0	0	0	1	0	0	0	8646	1145	40	1	3202	1	LATS1	6	150023045	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	189616	150023045	21092022	3371	24296											
RAET1G	353091	broad.mit.edu	37	chr6	150239453	150239453	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	aggagacacatgatgaggagGcagcaaaggatgagggtggt	14	5	18	4	0	0	4	0	3	0	1	0	7	0	6	0	6	1	2	0	6	1	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:150239453G>A	ENST00000367360.2	-	4	766	c.699C>T	c.(697-699)tgC>tgT	p.C233C	RAET1E-AS1_ENST00000605899.1_RNA|RAET1E-AS1_ENST00000446954.2_RNA|RP11-244K5.8_ENST00000606915.1_RNA	NM_001001788.2	NP_001001788.2			retinoic acid early transcript 1G											NS(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(4)|urinary_tract(1)	13		Ovarian(120;0.0907)	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;2.73e-12)		TGATGAGGAGGCAGCAAAGGA	0.597																																						ENST00000367360.2																			0				NS(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(4)|urinary_tract(1)	13						c.(697-699)tgC>tgT		retinoic acid early transcript 1G							263	249	254					6																	150239453		2203	4300	6503	SO:0001819	synonymous_variant	353091				antigen processing and presentation|immune response	integral to membrane|MHC class I protein complex	protein binding	g.chr6:150239453G>A	AY172579	CCDS43514.1	6q24.1-25.1	2009-04-29	2004-11-22		ENSG00000203722	ENSG00000203722			16795	protein-coding gene	gene with protein product		609244	"retinoic acid early transcript 1G pseudogene"			11827464, 15240696	Standard	NM_001001788		Approved	ULBP5	uc010kii.1	Q6H3X3	OTTHUMG00000015802	ENST00000367360.2:c.699C>T	6.37:g.150239453G>A						RP11-244K5.1_ENST00000605899.1_RNA|RP11-244K5.8_ENST00000606915.1_RNA|RP11-244K5.1_ENST00000446954.1_RNA	p.C233C	NM_001001788.2	NP_001001788.2	Q6H3X3	RET1G_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;2.73e-12)	4	766	-		Ovarian(120;0.0907)	233						Silent	SNP	ENST00000367360.2	37	c.699C>T	CCDS43514.1																																																																																				0.597	RAET1G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042668.2			12	29	0	0	0	1	0	12	29					A	150239453	G	A	150239453	2	1	435	1	0	0	0	0	0	0	0	1	13000	1195	42	3		3	RAET1G	6	150239453	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	216408	150239453	20875614	3372	24297											
ULBP2	80328	broad.mit.edu	37	chr6	150267638	150267638	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gagaagagaatgtggacaacGgttcatcctggagccagaaa	15	6	13	7	1	1	3	1	0	0	3	2	7	2	5	2	3	2	1	2	3	4	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:150267638G>A	ENST00000367351.3	+	3	553	c.480G>A	c.(478-480)acG>acA	p.T160T		NM_025217.2	NP_079493.1	Q9BZM5	N2DL2_HUMAN	UL16 binding protein 2	160	MHC class I alpha-2 like.				antigen processing and presentation (GO:0019882)|natural killer cell activation (GO:0030101)|natural killer cell mediated cytotoxicity (GO:0042267)	anchored component of plasma membrane (GO:0046658)|cell surface (GO:0009986)|extracellular space (GO:0005615)	natural killer cell lectin-like receptor binding (GO:0046703)			breast(3)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|skin(1)	10		Ovarian(120;0.0907)	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;2.58e-12)		TGTGGACAACGGTTCATCCTG	0.478																																						ENST00000367351.3																			0				breast(3)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|skin(1)	10						c.(478-480)acG>acA		UL16 binding protein 2							233	214	221					6																	150267638		2203	4300	6503	SO:0001819	synonymous_variant	80328				antigen processing and presentation|immune response|natural killer cell activation|regulation of immune response	anchored to membrane|cell surface|extracellular space|MHC class I protein complex	MHC class I receptor activity	g.chr6:150267638G>A	AF304378	CCDS5222.1	6q25	2008-04-11			ENSG00000131015	ENSG00000131015			14894	protein-coding gene	gene with protein product		605698				11239445	Standard	NM_025217		Approved	RAET1H	uc003qno.3	Q9BZM5	OTTHUMG00000015803	ENST00000367351.3:c.480G>A	6.37:g.150267638G>A							p.T160T	NM_025217.2	NP_079493.1	Q9BZM5	N2DL2_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;2.58e-12)	3	553	+		Ovarian(120;0.0907)	160			MHC class I alpha-2 like.		Q5VUN4	Silent	SNP	ENST00000367351.3	37	c.480G>A	CCDS5222.1																																																																																				0.478	ULBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042669.1			52	87	0	0	0	1	0	52	87					A	150267638	G	A	150267638	2	1	435	1	0	0	0	0	0	0	0	1	16970	1103	39	2		2	ULBP2	6	150267638	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	28185	150267638	20847429	3373	24298											
RAET1L	154064	broad.mit.edu	37	chr6	150342136	150342136	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agatgtaatggaaggacatgGccacatccttgtcattctcc	11	11	9	10	0	2	1	1	0	1	1	4	3	3	3	3	3	0	1	3	3	2	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:150342136G>A	ENST00000367341.1	-	3	535	c.536C>T	c.(535-537)gCc>gTc	p.A179V	RAET1L_ENST00000286380.2_Missense_Mutation_p.A179V			Q5VY80	RET1L_HUMAN	retinoic acid early transcript 1L	179	MHC class I alpha-2 like. {ECO:0000250}.				antigen processing and presentation (GO:0019882)|immune response (GO:0006955)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				endometrium(1)|large_intestine(1)|lung(1)|ovary(1)|skin(1)	5		Ovarian(120;0.028)	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;2.4e-12)		GAAGGACATGGCCACATCCTT	0.493																																						ENST00000367341.1																			0				endometrium(1)|large_intestine(1)|lung(1)|ovary(1)|skin(1)	5						c.(535-537)gCc>gTc		retinoic acid early transcript 1L							324	282	297					6																	150342136		2203	4300	6503	SO:0001583	missense	154064				antigen processing and presentation|immune response	anchored to membrane|MHC class I protein complex		g.chr6:150342136G>A	AY039682	CCDS5224.1	6q24.1-25.1	2008-02-05			ENSG00000155918	ENSG00000155918			16798	protein-coding gene	gene with protein product		611047				11827464	Standard	NM_130900		Approved		uc011eei.2	Q5VY80	OTTHUMG00000015809	ENST00000367341.1:c.536C>T	6.37:g.150342136G>A	ENSP00000356310:p.Ala179Val					RAET1L_ENST00000286380.2_Missense_Mutation_p.A179V	p.A179V			Q5VY80	RET1L_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;2.4e-12)	3	535	-		Ovarian(120;0.028)	179			MHC class I alpha-2 like (By similarity).		A3KME4|Q8TE74	Missense_Mutation	SNP	ENST00000367341.1	37	c.536C>T	CCDS5224.1	.	.	.	.	.	.	.	.	.	.	g	7.420	0.636576	0.14386	.	.	ENSG00000155918	ENST00000367341;ENST00000286380	T;T	0.60171	0.21;0.21	1.91	-3.81	0.04294	MHC class I, alpha chain, alpha1/alpha2 (1);MHC classes I/II-like antigen recognition protein (1);MHC class I-like antigen recognition (1);	.	.	.	.	T	0.22126	0.0533	L	0.49571	1.57	0.09310	N	1	B	0.21821	0.061	B	0.26614	0.071	T	0.29458	-1.0011	9	0.72032	D	0.01	.	1.1032	0.01688	0.1418:0.3297:0.1965:0.332	.	179	Q5VY80	RET1L_HUMAN	V	179	ENSP00000356310:A179V;ENSP00000286380:A179V	ENSP00000286380:A179V	A	-	2	0	RAET1L	150383829	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-1.239000	0.02916	-1.802000	0.01244	0.491000	0.48974	GCC		0.493	RAET1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042676.1	NM_130900		5	107	0	0	0	1	0	5	107					A	150342136	G	A	150342136	3	1	435	1	0	0	0	0	1	0	0	0	13001	1203	42	3	211	3	RAET1L	6	150342136	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	74498	150342136	20772931	3374	24299											
IYD	389434	broad.mit.edu	37	chr6	150719366	150719366	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctggaccagatcatggtgaCagtgtaggcagggcccccca	9	7	13	12	0	2	2	1	1	1	1	2	3	2	3	4	4	0	2	4	4	1	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:150719366C>T	ENST00000344419.3	+	5	1003	c.863C>T	c.(862-864)aCa>aTa	p.T288I	IYD_ENST00000229447.5_3'UTR	NM_203395.2	NP_981932.1	Q6PHW0	IYD1_HUMAN	iodotyrosine deiodinase	288					cellular nitrogen compound metabolic process (GO:0034641)|small molecule metabolic process (GO:0044281)|thyroid hormone generation (GO:0006590)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	iodide peroxidase activity (GO:0004447)|oxidoreductase activity (GO:0016491)			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	15		Ovarian(120;0.028)	BRCA - Breast invasive adenocarcinoma(37;0.215)	OV - Ovarian serous cystadenocarcinoma(155;4.16e-12)		ATCATGGTGACAGTGTAGGCA	0.622																																						ENST00000344419.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	15						c.(862-864)aCa>aTa		iodotyrosine deiodinase							59	59	59					6																	150719366		2203	4300	6503	SO:0001583	missense	389434				cellular nitrogen compound metabolic process|hormone biosynthetic process	integral to membrane|plasma membrane		g.chr6:150719366C>T	AK129950	CCDS5227.1, CCDS55066.1, CCDS55067.1	6q25.1	2006-08-24	2006-08-24	2006-08-24	ENSG00000009765	ENSG00000009765			21071	protein-coding gene	gene with protein product		612025	"chromosome 6 open reading frame 71"	C6orf71		16316988, 15289438	Standard	NM_001164694		Approved	dJ422F24.1, DEHAL1	uc003qnx.2	Q6PHW0	OTTHUMG00000016347	ENST00000344419.3:c.863C>T	6.37:g.150719366C>T	ENSP00000343763:p.Thr288Ile					IYD_ENST00000229447.5_3'UTR	p.T288I	NM_203395.2	NP_981932.1	Q6PHW0	IYD1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.215)	OV - Ovarian serous cystadenocarcinoma(155;4.16e-12)	5	1003	+		Ovarian(120;0.028)	288					C9JFW2|Q2VPW0|Q2VPW1|Q5F1L5|Q5F1L6|Q5THM4|Q6ZP69|Q7Z7D7|Q7Z7D8	Missense_Mutation	SNP	ENST00000344419.3	37	c.863C>T	CCDS5227.1	.	.	.	.	.	.	.	.	.	.	C	5.611	0.297537	0.10622	.	.	ENSG00000009765	ENST00000344419	T	0.70282	-0.47	5.94	2.83	0.33086	Nitroreductase-like (1);	.	.	.	.	T	0.29652	0.0740	N	0.13168	0.305	0.39396	D	0.966501	B	0.14012	0.009	B	0.06405	0.002	T	0.08932	-1.0698	9	0.22706	T	0.39	.	7.4893	0.27452	0.0:0.5957:0.0:0.4043	.	288	Q6PHW0	IYD1_HUMAN	I	288	ENSP00000343763:T288I	ENSP00000343763:T288I	T	+	2	0	IYD	150761059	0.158000	0.22850	0.707000	0.30419	0.292000	0.27327	0.458000	0.21892	0.876000	0.35872	-0.752000	0.03492	ACA		0.622	IYD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043754.3	NM_203395		11	29	0	0	0	1	0	11	29					T	150719366	C	T	150719366	3	4	435	1	0	0	0	0	1	0	0	0	7932	478	17	3	1058	3	IYD	6	150719366	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	377230	150719366	20395701	3375	24300											
PLEKHG1	57480	broad.mit.edu	37	chr6	151130361	151130361	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agcggacgctcttcctcttcGacaagctgctgctcatcacg	7	10	9	15	4	4	0	2	0	2	0	6	2	5	1	1	1	4	4	1	1	1	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:151130361G>A	ENST00000358517.2	+	8	1244	c.1033G>A	c.(1033-1035)Gac>Aac	p.D345N	PLEKHG1_ENST00000367328.1_Missense_Mutation_p.D345N			Q9ULL1	PKHG1_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 1	345	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.						Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(19)|ovary(5)|prostate(4)|stomach(1)|urinary_tract(3)	53			BRCA - Breast invasive adenocarcinoma(37;0.0923)	OV - Ovarian serous cystadenocarcinoma(155;6.69e-13)		CTTCCTCTTCGACAAGCTGCT	0.557																																						ENST00000367328.1																			0				breast(3)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(19)|ovary(5)|prostate(4)|stomach(1)|urinary_tract(3)	53						c.(1033-1035)Gac>Aac		pleckstrin homology domain containing, family G (with RhoGef domain) member 1							109	103	105					6																	151130361		2203	4300	6503	SO:0001583	missense	57480				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	g.chr6:151130361G>A	AB033035	CCDS34552.1	6q25.1	2013-01-11			ENSG00000120278	ENSG00000120278		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	20884	protein-coding gene	gene with protein product						10574462	Standard	XM_005267064		Approved	KIAA1209, ARHGEF41	uc003qny.1	Q9ULL1	OTTHUMG00000015824	ENST00000358517.2:c.1033G>A	6.37:g.151130361G>A	ENSP00000351318:p.Asp345Asn					PLEKHG1_ENST00000358517.2_Missense_Mutation_p.D345N	p.D345N	NM_001029884.1	NP_001025055.1	Q9ULL1	PKHG1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.0923)	OV - Ovarian serous cystadenocarcinoma(155;6.69e-13)	9	1345	+			345			PH.		Q5T1F2	Missense_Mutation	SNP	ENST00000358517.2	37	c.1033G>A	CCDS34552.1	.	.	.	.	.	.	.	.	.	.	G	35	5.504422	0.96371	.	.	ENSG00000120278	ENST00000367328;ENST00000535018;ENST00000358517	D;D	0.88896	-2.44;-2.44	5.49	5.49	0.81192	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	0.044180	0.85682	D	0.000000	D	0.94152	0.8124	M	0.78049	2.395	0.80722	D	1	D;D;D	0.89917	0.975;1.0;1.0	P;D;D	0.85130	0.708;0.997;0.997	D	0.94402	0.7624	10	0.87932	D	0	.	19.3815	0.94540	0.0:0.0:1.0:0.0	.	152;345;345	Q5EBL9;Q5JYA6;Q9ULL1	.;.;PKHG1_HUMAN	N	345	ENSP00000356297:D345N;ENSP00000351318:D345N	ENSP00000351318:D345N	D	+	1	0	PLEKHG1	151172054	1.000000	0.71417	0.999000	0.59377	0.836000	0.47400	7.732000	0.84908	2.583000	0.87209	0.555000	0.69702	GAC		0.557	PLEKHG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042691.1			18	29	0	0	0	1	0	18	29					A	151130361	G	A	151130361	3	1	435	1	0	0	0	0	1	0	0	0	12068	1058	37	2	1059	2	PLEKHG1	6	151130361	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	410995	151130361	19984706	3376	24301											
PLEKHG1	57480	broad.mit.edu	37	chr6	151153216	151153216	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagtcagaagattaagaaggCgaatcaacttttaaaagtga	18	9	9	5	1	2	4	2	1	0	3	2	5	2	4	0	1	1	0	0	1	7	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:151153216C>T	ENST00000358517.2	+	15	3180	c.2969C>T	c.(2968-2970)gCg>gTg	p.A990V	PLEKHG1_ENST00000367328.1_Missense_Mutation_p.A990V			Q9ULL1	PKHG1_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 1	990							Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(19)|ovary(5)|prostate(4)|stomach(1)|urinary_tract(3)	53			BRCA - Breast invasive adenocarcinoma(37;0.0923)	OV - Ovarian serous cystadenocarcinoma(155;6.69e-13)		ATTAAGAAGGCGAATCAACTT	0.498																																						ENST00000367328.1																			0				breast(3)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(19)|ovary(5)|prostate(4)|stomach(1)|urinary_tract(3)	53						c.(2968-2970)gCg>gTg		pleckstrin homology domain containing, family G (with RhoGef domain) member 1							85	97	93					6																	151153216		2203	4300	6503	SO:0001583	missense	57480				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	g.chr6:151153216C>T	AB033035	CCDS34552.1	6q25.1	2013-01-11			ENSG00000120278	ENSG00000120278		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	20884	protein-coding gene	gene with protein product						10574462	Standard	XM_005267064		Approved	KIAA1209, ARHGEF41	uc003qny.1	Q9ULL1	OTTHUMG00000015824	ENST00000358517.2:c.2969C>T	6.37:g.151153216C>T	ENSP00000351318:p.Ala990Val					PLEKHG1_ENST00000358517.2_Missense_Mutation_p.A990V	p.A990V	NM_001029884.1	NP_001025055.1	Q9ULL1	PKHG1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.0923)	OV - Ovarian serous cystadenocarcinoma(155;6.69e-13)	16	3281	+			990					Q5T1F2	Missense_Mutation	SNP	ENST00000358517.2	37	c.2969C>T	CCDS34552.1	.	.	.	.	.	.	.	.	.	.	C	16.87	3.243012	0.58995	.	.	ENSG00000120278	ENST00000367328;ENST00000358517	T;T	0.30714	1.52;1.52	5.81	4.93	0.64822	.	0.046720	0.85682	N	0.000000	T	0.10551	0.0258	L	0.41236	1.265	0.48571	D	0.999674	P;P;P	0.47841	0.901;0.83;0.83	B;B;B	0.29785	0.107;0.107;0.107	T	0.03957	-1.0989	10	0.38643	T	0.18	.	13.9917	0.64372	0.0:0.9267:0.0:0.0733	.	797;990;990	Q5EBL9;Q5JYA6;Q9ULL1	.;.;PKHG1_HUMAN	V	990	ENSP00000356297:A990V;ENSP00000351318:A990V	ENSP00000351318:A990V	A	+	2	0	PLEKHG1	151194909	1.000000	0.71417	0.996000	0.52242	0.981000	0.71138	5.711000	0.68400	1.431000	0.47355	0.655000	0.94253	GCG		0.498	PLEKHG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042691.1			5	102	0	0	0	1	0	5	102					T	151153216	C	T	151153216	3	4	435	1	0	0	0	0	1	0	0	0	12068	768	27	1	3023	1	PLEKHG1	6	151153216	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	22855	151153216	19961851	3377	24302											
MTHFD1L	25902	broad.mit.edu	37	chr6	151247370	151247370	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcaaaagcaaagccaaagtaCgtttgtccgtgctagaaagg	15	7	11	8	2	0	1	0	0	0	1	1	1	1	1	2	1	4	5	2	1	7	3	rs151023222		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:151247370C>T	ENST00000367321.3	+	11	1469	c.1195C>T	c.(1195-1197)Cgt>Tgt	p.R399C		NM_001242767.1|NM_001242768.1|NM_015440.4	NP_001229696.1|NP_001229697.1|NP_056255.2	Q6UB35	C1TM_HUMAN	methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1-like	399	Formyltetrahydrofolate synthetase.				folic acid-containing compound biosynthetic process (GO:0009396)|folic acid-containing compound metabolic process (GO:0006760)|formate metabolic process (GO:0015942)|one-carbon metabolic process (GO:0006730)|oxidation-reduction process (GO:0055114)|tetrahydrofolate interconversion (GO:0035999)|tetrahydrofolate metabolic process (GO:0046653)	membrane (GO:0016020)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|formate-tetrahydrofolate ligase activity (GO:0004329)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(8)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)	29		Ovarian(120;0.128)		OV - Ovarian serous cystadenocarcinoma(155;8.7e-12)		AGCCAAAGTACGTTTGTCCGT	0.413																																						ENST00000367321.3																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(8)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)	29						c.(1195-1197)Cgt>Tgt		methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1-like		C	CYS/ARG,CYS/ARG,CYS/ARG	0,4406		0,0,2203	166	155	159		1198,1000,1195	4.3	0.1	6	dbSNP_134	159	1,8599	1.2+/-3.3	0,1,4299	yes	missense,missense,missense	MTHFD1L	NM_001242767.1,NM_001242768.1,NM_015440.4	180,180,180	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign,benign,benign	400/980,334/914,399/979	151247370	1,13005	2203	4300	6503	SO:0001583	missense	25902				folic acid-containing compound biosynthetic process|formate metabolic process|one-carbon metabolic process|tetrahydrofolate metabolic process	mitochondrion	ATP binding|formate-tetrahydrofolate ligase activity|protein homodimerization activity	g.chr6:151247370C>T	BC017477	CCDS5228.1, CCDS56457.1, CCDS75535.1, CCDS75536.1	6q25.1	2010-07-19	2004-12-13	2004-12-14	ENSG00000120254	ENSG00000120254	6.3.4.3		21055	protein-coding gene	gene with protein product	"10-formyl-THF synthetase", "mitochondrial C1-tetrahydrofolate synthase", "monofunctional C1-tetrahydrofolate synthase, mitochondrial"	611427	"formyltetrahydrofolate synthetase domain containing 1"	FTHFSDC1		18804703	Standard	NM_015440		Approved	DKFZP586G1517, FLJ21145	uc021zgs.1	Q6UB35	OTTHUMG00000015828	ENST00000367321.3:c.1195C>T	6.37:g.151247370C>T	ENSP00000356290:p.Arg399Cys						p.R399C	NM_001242767.1|NM_001242768.1|NM_015440.4	NP_001229696.1|NP_001229697.1|NP_056255.2	Q6UB35	C1TM_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;8.7e-12)	11	1469	+		Ovarian(120;0.128)	399			Formyltetrahydrofolate synthetase.		Q2TBF3|Q8WVW0|Q96HG8|Q9H789|Q9UFU8	Missense_Mutation	SNP	ENST00000367321.3	37	c.1195C>T	CCDS5228.1	.	.	.	.	.	.	.	.	.	.	C	14.54	2.565573	0.45694	0.0	1.16E-4	ENSG00000120254	ENST00000367321;ENST00000441122	T;T	0.23147	1.92;1.92	6.03	4.26	0.50523	.	0.335084	0.36066	N	0.002815	T	0.12433	0.0302	L	0.46885	1.475	0.80722	D	1	B;B;B	0.21688	0.027;0.0;0.059	B;B;B	0.17433	0.018;0.001;0.016	T	0.03068	-1.1076	10	0.62326	D	0.03	.	13.1094	0.59265	0.0:0.8702:0.0:0.1298	.	400;154;399	B7ZM99;B2RD24;Q6UB35	.;.;C1TM_HUMAN	C	399;70	ENSP00000356290:R399C;ENSP00000407070:R70C	ENSP00000356290:R399C	R	+	1	0	MTHFD1L	151289063	0.132000	0.22450	0.106000	0.21319	0.616000	0.37450	3.020000	0.49643	0.886000	0.36113	0.655000	0.94253	CGT		0.413	MTHFD1L-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042699.1	NM_015440		42	50	0	0	0	1	0	42	50					T	151247370	C	T	151247370	3	4	435	1	0	0	0	0	1	0	0	0	9928	536	19	1	1237	1	MTHFD1L	6	151247370	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	94154	151247370	19867697	3378	24303											
MTHFD1L	25902	broad.mit.edu	37	chr6	151355736	151355736	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atagatcgttacactcaacaGgtaaaagttctacttttagg	14	13	7	7	1	2	1	1	0	1	1	3	1	2	1	0	2	3	3	0	2	7	7			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:151355736G>T	ENST00000367321.3	+	25	2968	c.2694G>T	c.(2692-2694)caG>caT	p.Q898H		NM_001242767.1|NM_001242768.1|NM_015440.4	NP_001229696.1|NP_001229697.1|NP_056255.2	Q6UB35	C1TM_HUMAN	methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1-like	898	Formyltetrahydrofolate synthetase.				folic acid-containing compound biosynthetic process (GO:0009396)|folic acid-containing compound metabolic process (GO:0006760)|formate metabolic process (GO:0015942)|one-carbon metabolic process (GO:0006730)|oxidation-reduction process (GO:0055114)|tetrahydrofolate interconversion (GO:0035999)|tetrahydrofolate metabolic process (GO:0046653)	membrane (GO:0016020)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|formate-tetrahydrofolate ligase activity (GO:0004329)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(8)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)	29		Ovarian(120;0.128)		OV - Ovarian serous cystadenocarcinoma(155;8.7e-12)		ACACTCAACAGGTAAAAGTTC	0.413																																						ENST00000367321.3																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(8)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)	29						c.e25+1		methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1-like							44	43	43					6																	151355736		2203	4300	6503	SO:0001630	splice_region_variant	25902				folic acid-containing compound biosynthetic process|formate metabolic process|one-carbon metabolic process|tetrahydrofolate metabolic process	mitochondrion	ATP binding|formate-tetrahydrofolate ligase activity|protein homodimerization activity	g.chr6:151355736G>T	BC017477	CCDS5228.1, CCDS56457.1, CCDS75535.1, CCDS75536.1	6q25.1	2010-07-19	2004-12-13	2004-12-14	ENSG00000120254	ENSG00000120254	6.3.4.3		21055	protein-coding gene	gene with protein product	"10-formyl-THF synthetase", "mitochondrial C1-tetrahydrofolate synthase", "monofunctional C1-tetrahydrofolate synthase, mitochondrial"	611427	"formyltetrahydrofolate synthetase domain containing 1"	FTHFSDC1		18804703	Standard	NM_015440		Approved	DKFZP586G1517, FLJ21145	uc021zgs.1	Q6UB35	OTTHUMG00000015828	ENST00000367321.3:c.2694+1G>T	6.37:g.151355736G>T							p.Q898_splice	NM_001242767.1|NM_001242768.1|NM_015440.4	NP_001229696.1|NP_001229697.1|NP_056255.2	Q6UB35	C1TM_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;8.7e-12)	25	2968	+		Ovarian(120;0.128)	898			Formyltetrahydrofolate synthetase.		Q2TBF3|Q8WVW0|Q96HG8|Q9H789|Q9UFU8	Splice_Site	SNP	ENST00000367321.3	37	c.2694_splice	CCDS5228.1	.	.	.	.	.	.	.	.	.	.	G	23.9	4.473244	0.84640	.	.	ENSG00000120254	ENST00000367321;ENST00000453602	T;T	0.23552	1.9;1.9	5.01	5.01	0.66863	.	0.000000	0.85682	D	0.000000	T	0.50803	0.1637	M	0.85777	2.775	0.80722	D	1	D;D;D	0.89917	1.0;0.996;1.0	D;D;D	0.91635	0.999;0.942;0.999	T	0.58423	-0.7639	10	0.62326	D	0.03	.	18.6942	0.91594	0.0:0.0:1.0:0.0	.	899;653;898	B7ZM99;B2RD24;Q6UB35	.;.;C1TM_HUMAN	H	898;23	ENSP00000356290:Q898H;ENSP00000391022:Q23H	ENSP00000356290:Q898H	Q	+	3	2	MTHFD1L	151397429	1.000000	0.71417	1.000000	0.80357	0.849000	0.48306	6.321000	0.72881	2.484000	0.83849	0.563000	0.77884	CAG		0.413	MTHFD1L-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042699.1	NM_015440	Missense_Mutation	13	14	1	0	7.03913e-09	1	7.44699e-09	13	14					T	151355736	G	T	151355736	5	4	435	1	0	0	0	0	0	0	1	0	9928	1014	35	5	2792	5	MTHFD1L	6	151355736	Splice_Site	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	108366	151355736	19759331	3379	24304											
AKAP12	9590	broad.mit.edu	37	chr6	151671538	151671538	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaagccggaagaaccaaagcGcaaggtggatacctcagtat	16	5	11	9	2	1	1	1	0	0	1	1	3	1	3	3	3	4	2	3	3	7	2	rs190920353	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:151671538G>A	ENST00000253332.1	+	3	2201	c.2012G>A	c.(2011-2013)cGc>cAc	p.R671H	AKAP12_ENST00000359755.5_Missense_Mutation_p.R566H|AKAP12_ENST00000354675.6_Missense_Mutation_p.R573H|AKAP12_ENST00000402676.2_Missense_Mutation_p.R671H			Q02952	AKA12_HUMAN	A kinase (PRKA) anchor protein 12	671					G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of protein kinase A signaling (GO:0010739)|protein targeting (GO:0006605)|regulation of protein kinase C signaling (GO:0090036)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)	adenylate cyclase binding (GO:0008179)|protein kinase A binding (GO:0051018)			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	68		Ovarian(120;0.125)	BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.98e-11)		GAACCAAAGCGCAAGGTGGAT	0.502													G|||	2	0.000399361	8e-04	0	5008	,	,		20025	0.001		0	False		,,,				2504	0				Melanoma(141;1616 1805 10049 24534 51979)	ENST00000402676.2																			0				breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	68						c.(2011-2013)cGc>cAc		A kinase (PRKA) anchor protein 12							85	82	83					6																	151671538		2203	4300	6503	SO:0001583	missense	9590				G-protein coupled receptor protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of protein kinase A signaling cascade|protein targeting	cell cortex|cytoskeleton|plasma membrane	adenylate cyclase binding|protein kinase A binding	g.chr6:151671538G>A	U81607	CCDS5229.1, CCDS5230.1	6q24-q25	2011-07-01	2008-08-29		ENSG00000131016	ENSG00000131016		"A-kinase anchor proteins"	370	protein-coding gene	gene with protein product	"gravin", "Src-Suppressed C Kinase Substrate"	604698	"A kinase (PRKA) anchor protein (gravin) 12"			9000000	Standard	NM_144497		Approved	AKAP250, SSeCKS	uc011eep.2	Q02952	OTTHUMG00000015833	ENST00000253332.1:c.2012G>A	6.37:g.151671538G>A	ENSP00000253332:p.Arg671His					AKAP12_ENST00000359755.5_Missense_Mutation_p.R566H|AKAP12_ENST00000253332.1_Missense_Mutation_p.R671H|AKAP12_ENST00000354675.6_Missense_Mutation_p.R573H	p.R671H	NM_005100.3	NP_005091.2	Q02952	AKA12_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.98e-11)	4	2252	+		Ovarian(120;0.125)	671					O00310|O00498|Q4LE68|Q5SZ80|Q5TGN1|Q68D82|Q99970	Missense_Mutation	SNP	ENST00000253332.1	37	c.2012G>A	CCDS5229.1	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	G	19.18	3.778035	0.70107	.	.	ENSG00000131016	ENST00000402676;ENST00000253332;ENST00000354675;ENST00000359755	T;T;T;T	0.12465	2.68;2.68;2.7;2.7	5.52	4.65	0.58169	.	0.000000	0.40818	N	0.001005	T	0.10380	0.0254	M	0.73962	2.25	0.43304	D	0.995305	D;D;D	0.59767	0.986;0.986;0.975	P;P;B	0.45428	0.48;0.48;0.287	T	0.04650	-1.0936	10	0.41790	T	0.15	.	8.9363	0.35702	0.2216:0.0:0.7784:0.0	.	566;573;671	Q02952-3;Q02952-2;Q02952	.;.;AKA12_HUMAN	H	671;671;573;566	ENSP00000384537:R671H;ENSP00000253332:R671H;ENSP00000346702:R573H;ENSP00000352794:R566H	ENSP00000253332:R671H	R	+	2	0	AKAP12	151713231	1.000000	0.71417	1.000000	0.80357	0.894000	0.52154	4.981000	0.63819	1.332000	0.45431	0.650000	0.86243	CGC		0.502	AKAP12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042712.1			5	30	0	0	0	1	0	5	30					A	151671538	G	A	151671538	3	1	435	1	0	0	0	0	1	0	0	0	448	1087	38	1	2051	1	AKAP12	6	151671538	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	315802	151671538	19443529	3380	24305											
ZBTB2	57621	broad.mit.edu	37	chr6	151686671	151686671	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gacattcagtctagtaagacGgtttcttgttcctttttgat	8	18	8	7	1	3	2	1	1	2	1	4	3	4	2	1	1	0	3	1	1	2	8	rs377600897		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:151686671G>A	ENST00000325144.4	-	3	1670	c.1530C>T	c.(1528-1530)acC>acT	p.T510T		NM_020861.1	NP_065912.1	Q8N680	ZBTB2_HUMAN	zinc finger and BTB domain containing 2	510					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|large_intestine(2)|lung(6)|skin(1)	12			BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.63e-11)		CTAGTAAGACGGTTTCTTGTT	0.448																																						ENST00000325144.4																			0				breast(1)|endometrium(2)|large_intestine(2)|lung(6)|skin(1)	12						c.(1528-1530)acC>acT		zinc finger and BTB domain containing 2		G		0,4406		0,0,2203	115	111	113		1530	-8.8	0.6	6		113	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	ZBTB2	NM_020861.1		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		510/515	151686671	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	57621				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:151686671G>A	BC020172	CCDS5231.1	6q25.1	2013-01-09			ENSG00000181472	ENSG00000181472		"-", "BTB/POZ domain containing", "Zinc fingers, C2H2-type"	20868	protein-coding gene	gene with protein product						10819331	Standard	NM_020861		Approved	KIAA1483, ZNF437, bA351K16.2	uc003qoh.3	Q8N680	OTTHUMG00000015834	ENST00000325144.4:c.1530C>T	6.37:g.151686671G>A							p.T510T	NM_020861.1	NP_065912.1	Q8N680	ZBTB2_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.63e-11)	3	1670	-			510					A8K7C7|Q5SZ81|Q9P245	Silent	SNP	ENST00000325144.4	37	c.1530C>T	CCDS5231.1																																																																																				0.448	ZBTB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042715.1	NM_020861		50	79	0	0	0	1	0	50	79					A	151686671	G	A	151686671	2	1	435	1	0	0	0	0	0	0	0	1	17525	1103	39	2		2	ZBTB2	6	151686671	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	15133	151686671	19428396	3381	24306											
RMND1	55005	broad.mit.edu	37	chr6	151744681	151744681	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaaaggcatagagcattggAgaaagcaaacttctctagaa	18	7	10	6	0	1	4	0	0	1	4	2	5	1	4	0	2	3	3	0	2	6	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:151744681A>G	ENST00000367303.4	-	7	1038	c.916T>C	c.(916-918)Tcc>Ccc	p.S306P	RMND1_ENST00000336451.3_Missense_Mutation_p.S95P	NM_017909.2	NP_060379.2	Q9NWS8	RMND1_HUMAN	required for meiotic nuclear division 1 homolog (S. cerevisiae)	306					translation (GO:0006412)	mitochondrion (GO:0005739)				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12		Ovarian(120;0.125)	BRCA - Breast invasive adenocarcinoma(37;0.146)	OV - Ovarian serous cystadenocarcinoma(155;6.8e-11)		AGAGCATTGGAGAAAGCAAAC	0.398																																						ENST00000367303.4																			0				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						c.(916-918)Tcc>Ccc		required for meiotic nuclear division 1 homolog (S. cerevisiae)							138	133	135					6																	151744681		2203	4300	6503	SO:0001583	missense	55005							g.chr6:151744681A>G	AK000634	CCDS5232.1, CCDS75539.1	6q25.1	2008-02-05	2006-11-24	2006-11-24	ENSG00000155906	ENSG00000155906			21176	protein-coding gene	gene with protein product		614917	"chromosome 6 open reading frame 96"	C6orf96			Standard	NM_001271937		Approved	bA351K16.3, FLJ20627, RMD1	uc003qoi.3	Q9NWS8	OTTHUMG00000015837	ENST00000367303.4:c.916T>C	6.37:g.151744681A>G	ENSP00000356272:p.Ser306Pro					RMND1_ENST00000336451.3_Missense_Mutation_p.S95P	p.S306P	NM_017909.2	NP_060379.2	Q9NWS8	RMND1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.146)	OV - Ovarian serous cystadenocarcinoma(155;6.8e-11)	7	1038	-		Ovarian(120;0.125)	306					A8K8H4|Q0VDG6|Q5SZ48|Q5SZ83|Q6NSC5|Q96EN7	Missense_Mutation	SNP	ENST00000367303.4	37	c.916T>C	CCDS5232.1	.	.	.	.	.	.	.	.	.	.	A	26.8	4.770360	0.90108	.	.	ENSG00000155906	ENST00000336451;ENST00000367303;ENST00000444024	D;T	0.89050	-2.46;-1.08	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	D	0.95859	0.8652	H	0.95504	3.68	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.97114	0.9806	10	0.87932	D	0	-15.0818	15.8226	0.78667	1.0:0.0:0.0:0.0	.	306	Q9NWS8	RMND1_HUMAN	P	95;306;136	ENSP00000336683:S95P;ENSP00000356272:S306P	ENSP00000336683:S95P	S	-	1	0	RMND1	151786374	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.021000	0.88750	2.213000	0.71641	0.477000	0.44152	TCC		0.398	RMND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042718.2	NM_017909		33	44	0	0	0	1	0	33	44					G	151744681	A	G	151744681	3	3	435	1	0	0	0	0	1	0	0	0	13396	304	11	4	457	4	RMND1	6	151744681	Missense_Mutation	SNP	A	TCGA-XK-AAIW-01A-11D-A41K-08	58010	151744681	19370386	3382	24307											
RMND1	55005	broad.mit.edu	37	chr6	151766709	151766709	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agcagcatttaatggagacaGcatgctggtatctgactttt	11	13	10	7	0	1	2	0	1	1	1	1	3	1	2	0	2	4	5	0	2	2	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:151766709G>A	ENST00000367303.4	-	2	360	c.238C>T	c.(238-240)Ctg>Ttg	p.L80L	RMND1_ENST00000491268.1_5'UTR|RMND1_ENST00000336451.3_5'Flank	NM_017909.2	NP_060379.2	Q9NWS8	RMND1_HUMAN	required for meiotic nuclear division 1 homolog (S. cerevisiae)	80					translation (GO:0006412)	mitochondrion (GO:0005739)				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12		Ovarian(120;0.125)	BRCA - Breast invasive adenocarcinoma(37;0.146)	OV - Ovarian serous cystadenocarcinoma(155;6.8e-11)		AATGGAGACAGCATGCTGGTA	0.423																																						ENST00000367303.4																			0				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						c.(238-240)Ctg>Ttg		required for meiotic nuclear division 1 homolog (S. cerevisiae)							206	192	197					6																	151766709		2203	4300	6503	SO:0001819	synonymous_variant	55005							g.chr6:151766709G>A	AK000634	CCDS5232.1, CCDS75539.1	6q25.1	2008-02-05	2006-11-24	2006-11-24	ENSG00000155906	ENSG00000155906			21176	protein-coding gene	gene with protein product		614917	"chromosome 6 open reading frame 96"	C6orf96			Standard	NM_001271937		Approved	bA351K16.3, FLJ20627, RMD1	uc003qoi.3	Q9NWS8	OTTHUMG00000015837	ENST00000367303.4:c.238C>T	6.37:g.151766709G>A						RMND1_ENST00000491268.1_5'UTR	p.L80L	NM_017909.2	NP_060379.2	Q9NWS8	RMND1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.146)	OV - Ovarian serous cystadenocarcinoma(155;6.8e-11)	2	360	-		Ovarian(120;0.125)	80					A8K8H4|Q0VDG6|Q5SZ48|Q5SZ83|Q6NSC5|Q96EN7	Silent	SNP	ENST00000367303.4	37	c.238C>T	CCDS5232.1																																																																																				0.423	RMND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042718.2	NM_017909		13	129	0	0	0	1	0	13	129					A	151766709	G	A	151766709	2	1	435	1	0	0	0	0	0	0	0	1	13396	962	34	3		3	RMND1	6	151766709	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	22028	151766709	19348358	3383	24308											
C6orf97	80129	broad.mit.edu	37	chr6	151869452	151869452	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcttcagcttagagacctgcGcaaagaaaatgaattcgtga	14	10	9	8	2	2	4	1	2	1	2	3	5	2	4	1	0	2	2	1	0	5	3	rs200538059		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:151869452G>A	ENST00000239374.7	+	5	701	c.602G>A	c.(601-603)cGc>cAc	p.R201H	CCDC170_ENST00000367290.5_Missense_Mutation_p.R201H	NM_025059.3	NP_079335.2	Q8IYT3	CC170_HUMAN	coiled-coil domain containing 170	201								p.R201H(1)									AGAGACCTGCGCAAAGAAAAT	0.353																																						ENST00000367290.5																			1	Substitution - Missense(1)	p.R201H(1)	lung(1)								c.(601-603)cGc>cAc		coiled-coil domain containing 170		G	HIS/ARG	0,3670		0,0,1835	59	54	56		602	3.3	1	6		56	1,8157		0,1,4078	yes	missense	C6orf97	NM_025059.3	29	0,1,5913	AA,AG,GG		0.0123,0.0,0.0085	benign	201/716	151869452	1,11827	1835	4079	5914	SO:0001583	missense	80129							g.chr6:151869452G>A	AK026958	CCDS43515.1	6q25.1	2012-03-26	2012-03-26	2012-03-26	ENSG00000120262	ENSG00000120262			21177	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 97"	C6orf97			Standard	NM_025059		Approved	FLJ23305, bA282P11.1	uc003qol.3	Q8IYT3	OTTHUMG00000015839	ENST00000239374.7:c.602G>A	6.37:g.151869452G>A	ENSP00000239374:p.Arg201His					CCDC170_ENST00000239374.7_Missense_Mutation_p.R201H	p.R201H			Q8IYT3	CF097_HUMAN			5	691	+			201					Q5VXB7|Q6P9E4|Q96KA9|Q9H5M3	Missense_Mutation	SNP	ENST00000239374.7	37	c.602G>A	CCDS43515.1	.	.	.	.	.	.	.	.	.	.	G	7.695	0.691904	0.15039	0.0	1.23E-4	ENSG00000120262	ENST00000239374;ENST00000367290	T;T	0.10099	2.91;2.91	5.48	3.32	0.38043	.	0.552403	0.19336	N	0.116789	T	0.01156	0.0038	N	0.02011	-0.69	0.18873	N	0.999987	B	0.02656	0.0	B	0.01281	0.0	T	0.48364	-0.9042	10	0.15499	T	0.54	1.1149	10.969	0.47428	0.2274:0.0:0.7726:0.0	.	201	Q8IYT3	CF097_HUMAN	H	201	ENSP00000239374:R201H;ENSP00000356259:R201H	ENSP00000239374:R201H	R	+	2	0	C6orf97	151911145	1.000000	0.71417	0.993000	0.49108	0.723000	0.41478	1.873000	0.39558	1.271000	0.44313	0.585000	0.79938	CGC		0.353	CCDC170-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000042727.2	NM_025059		7	17	0	0	0	1	0	7	17					A	151869452	G	A	151869452	3	1	435	1	0	0	0	0	1	0	0	0	2374	1087	38	1	620	1	C6orf97	6	151869452	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	102743	151869452	19245615	3384	24309											
SYNE1	23345	broad.mit.edu	37	chr6	152469194	152469194	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcctacctgataagccaacaGctccccggaggtagaaatct	12	8	8	13	1	1	2	0	1	1	1	3	3	3	3	5	2	4	2	5	2	5	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:152469194G>A	ENST00000367255.5	-	137	25563	c.24962C>T	c.(24961-24963)gCt>gTt	p.A8321V	SYNE1_ENST00000356820.4_Missense_Mutation_p.A2845V|SYNE1_ENST00000539504.1_Missense_Mutation_p.A476V|SYNE1_ENST00000265368.4_Missense_Mutation_p.A8321V|SYNE1_ENST00000354674.4_Missense_Mutation_p.A476V|SYNE1_ENST00000448038.1_Missense_Mutation_p.A8250V|SYNE1_ENST00000347037.5_5'UTR|SYNE1_ENST00000341594.5_Missense_Mutation_p.A7933V|SYNE1_ENST00000423061.1_Missense_Mutation_p.A8250V	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	8321					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TAAGCCAACAGCTCCCCGGAG	0.493										HNSCC(10;0.0054)																												ENST00000367255.5																			0				NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524						c.(24961-24963)gCt>gTt		spectrin repeat containing, nuclear envelope 1							52	55	54					6																	152469194		2203	4300	6503	SO:0001583	missense	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152469194G>A	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"myocyte nuclear envelope protein 1", "nuclear envelope spectrin repeat-1"	608441	"chromosome 6 open reading frame 98"	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.24962C>T	6.37:g.152469194G>A	ENSP00000356224:p.Ala8321Val	HNSCC(10;0.0054)				SYNE1_ENST00000354674.4_Missense_Mutation_p.A476V|SYNE1_ENST00000347037.5_5'UTR|SYNE1_ENST00000539504.1_Missense_Mutation_p.A476V|SYNE1_ENST00000448038.1_Missense_Mutation_p.A8250V|SYNE1_ENST00000356820.4_Missense_Mutation_p.A2845V|SYNE1_ENST00000341594.5_Missense_Mutation_p.A7933V|SYNE1_ENST00000423061.1_Missense_Mutation_p.A8250V|SYNE1_ENST00000265368.4_Missense_Mutation_p.A8321V	p.A8321V	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	137	25563	-		Ovarian(120;0.0955)	8321					E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	c.24962C>T	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	G	10.98	1.505223	0.26949	.	.	ENSG00000131018	ENST00000367255;ENST00000539504;ENST00000367257;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000356820;ENST00000313630;ENST00000367247;ENST00000367251;ENST00000354674	T;T;T;T;T;T;T;T;T;T	0.55930	0.58;4.63;1.49;0.54;0.49;0.54;0.7;2.61;1.52;4.56	5.34	4.47	0.54385	.	0.000000	0.53938	D	0.000045	T	0.55545	0.1927	M	0.65320	2	0.43708	D	0.996176	P;P;D;D;D	0.58268	0.714;0.714;0.982;0.97;0.968	B;B;P;P;P	0.59171	0.194;0.194;0.853;0.718;0.772	T	0.60429	-0.7265	10	0.52906	T	0.07	.	14.0109	0.64495	0.0731:0.0:0.9269:0.0	.	8321;8321;8250;8250;523	Q8NF91;E7EQI5;Q8NF91-4;E9PEL9;B7Z9Y6	SYNE1_HUMAN;.;.;.;.	V	8321;476;967;8250;8321;8250;7933;2845;483;478;1243;476	ENSP00000356224:A8321V;ENSP00000441052:A476V;ENSP00000356226:A967V;ENSP00000396024:A8250V;ENSP00000265368:A8321V;ENSP00000390975:A8250V;ENSP00000341887:A7933V;ENSP00000349276:A2845V;ENSP00000356220:A1243V;ENSP00000346701:A476V	ENSP00000265368:A8321V	A	-	2	0	SYNE1	152510887	1.000000	0.71417	0.991000	0.47740	0.006000	0.05464	7.288000	0.78691	1.269000	0.44280	-0.140000	0.14226	GCT		0.493	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		30	38	0	0	0	1	0	30	38					A	152469194	G	A	152469194	3	1	435	1	0	0	0	0	1	0	0	0	15442	971	34	3	1544	3	SYNE1	6	152469194	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	599742	152469194	18645873	3385	24310											
SYNE1	23345	broad.mit.edu	37	chr6	152473249	152473249	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gatcagttccagctgcgtcaGgcactcgtggacctgtcgct	6	10	12	13	3	2	0	2	0	0	0	5	2	3	1	2	2	2	4	2	2	0	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:152473249G>T	ENST00000367255.5	-	134	24758	c.24157C>A	c.(24157-24159)Ctg>Atg	p.L8053M	SYNE1_ENST00000356820.4_Missense_Mutation_p.L2577M|SYNE1_ENST00000539504.1_Missense_Mutation_p.L208M|SYNE1_ENST00000265368.4_Missense_Mutation_p.L8053M|SYNE1_ENST00000354674.4_Missense_Mutation_p.L208M|SYNE1_ENST00000448038.1_Missense_Mutation_p.L7982M|SYNE1_ENST00000347037.5_5'UTR|SYNE1_ENST00000341594.5_Missense_Mutation_p.L7665M|SYNE1_ENST00000423061.1_Missense_Mutation_p.L7982M	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	8053					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		AGCTGCGTCAGGCACTCGTGG	0.532										HNSCC(10;0.0054)																												ENST00000367255.5																			0				NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524						c.(24157-24159)Ctg>Atg		spectrin repeat containing, nuclear envelope 1							88	76	80					6																	152473249		2203	4300	6503	SO:0001583	missense	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152473249G>T	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"myocyte nuclear envelope protein 1", "nuclear envelope spectrin repeat-1"	608441	"chromosome 6 open reading frame 98"	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.24157C>A	6.37:g.152473249G>T	ENSP00000356224:p.Leu8053Met	HNSCC(10;0.0054)				SYNE1_ENST00000354674.4_Missense_Mutation_p.L208M|SYNE1_ENST00000347037.5_5'UTR|SYNE1_ENST00000539504.1_Missense_Mutation_p.L208M|SYNE1_ENST00000448038.1_Missense_Mutation_p.L7982M|SYNE1_ENST00000356820.4_Missense_Mutation_p.L2577M|SYNE1_ENST00000341594.5_Missense_Mutation_p.L7665M|SYNE1_ENST00000423061.1_Missense_Mutation_p.L7982M|SYNE1_ENST00000265368.4_Missense_Mutation_p.L8053M	p.L8053M	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	134	24758	-		Ovarian(120;0.0955)	8053					E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	c.24157C>A	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	G	22.5	4.303582	0.81136	.	.	ENSG00000131018	ENST00000367255;ENST00000539504;ENST00000367257;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000356820;ENST00000313630;ENST00000367247;ENST00000367251;ENST00000354674	T;T;T;T;T;T;T;T;T;T	0.49720	1.34;0.77;0.77;1.34;1.34;1.34;1.34;0.77;0.77;0.77	5.96	5.1	0.69264	.	0.000000	0.45867	D	0.000336	T	0.59715	0.2214	M	0.82517	2.595	0.52099	D	0.999949	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.999;0.999;1.0;0.999;0.997	T	0.63400	-0.6646	10	0.35671	T	0.21	.	11.2193	0.48844	0.1392:0.0:0.8608:0.0	.	8053;8053;7982;7982;255	Q8NF91;E7EQI5;Q8NF91-4;E9PEL9;B7Z9Y6	SYNE1_HUMAN;.;.;.;.	M	8053;208;699;7982;8053;7982;7665;2577;215;210;975;208	ENSP00000356224:L8053M;ENSP00000441052:L208M;ENSP00000356226:L699M;ENSP00000396024:L7982M;ENSP00000265368:L8053M;ENSP00000390975:L7982M;ENSP00000341887:L7665M;ENSP00000349276:L2577M;ENSP00000356220:L975M;ENSP00000346701:L208M	ENSP00000265368:L8053M	L	-	1	2	SYNE1	152514942	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.761000	0.62243	1.538000	0.49270	0.650000	0.86243	CTG		0.532	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		19	35	1	0	1.01871e-10	1	1.09092e-10	19	35					T	152473249	G	T	152473249	3	4	435	1	0	0	0	0	1	0	0	0	15442	991	35	5	2361	5	SYNE1	6	152473249	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	4055	152473249	18641818	3386	24311											
SYNE1	23345	broad.mit.edu	37	chr6	152477120	152477120	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctcgtagcctgctgtataGagtcacactcggcatcagtg	8	12	10	11	2	3	1	2	0	1	1	5	1	3	1	1	1	2	4	1	1	3	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:152477120G>T	ENST00000367255.5	-	132	24504	c.23903C>A	c.(23902-23904)tCt>tAt	p.S7968Y	SYNE1_ENST00000356820.4_Missense_Mutation_p.S2492Y|SYNE1_ENST00000539504.1_Missense_Mutation_p.S123Y|SYNE1_ENST00000265368.4_Missense_Mutation_p.S7968Y|SYNE1_ENST00000354674.4_Missense_Mutation_p.S123Y|SYNE1_ENST00000448038.1_Missense_Mutation_p.S7897Y|SYNE1_ENST00000347037.5_5'UTR|SYNE1_ENST00000341594.5_Missense_Mutation_p.S7580Y|SYNE1_ENST00000423061.1_Missense_Mutation_p.S7897Y	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	7968					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CTGCTGTATAGAGTCACACTC	0.522										HNSCC(10;0.0054)																												ENST00000367255.5																			0				NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524						c.(23902-23904)tCt>tAt		spectrin repeat containing, nuclear envelope 1							135	124	128					6																	152477120		2203	4300	6503	SO:0001583	missense	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152477120G>T	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"myocyte nuclear envelope protein 1", "nuclear envelope spectrin repeat-1"	608441	"chromosome 6 open reading frame 98"	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.23903C>A	6.37:g.152477120G>T	ENSP00000356224:p.Ser7968Tyr	HNSCC(10;0.0054)				SYNE1_ENST00000354674.4_Missense_Mutation_p.S123Y|SYNE1_ENST00000347037.5_5'UTR|SYNE1_ENST00000539504.1_Missense_Mutation_p.S123Y|SYNE1_ENST00000448038.1_Missense_Mutation_p.S7897Y|SYNE1_ENST00000356820.4_Missense_Mutation_p.S2492Y|SYNE1_ENST00000341594.5_Missense_Mutation_p.S7580Y|SYNE1_ENST00000423061.1_Missense_Mutation_p.S7897Y|SYNE1_ENST00000265368.4_Missense_Mutation_p.S7968Y	p.S7968Y	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	132	24504	-		Ovarian(120;0.0955)	7968					E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	c.23903C>A	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	G	32	5.116008	0.94339	.	.	ENSG00000131018	ENST00000367255;ENST00000539504;ENST00000367257;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000356820;ENST00000313630;ENST00000367247;ENST00000367251;ENST00000354674	T;T;T;T;T;T;T;T;T;T	0.79940	-1.32;-1.32;-1.32;-1.32;-1.32;-1.32;-1.32;-1.32;-1.32;-1.32	5.65	5.65	0.86999	.	0.000000	0.64402	D	0.000019	D	0.90103	0.6908	M	0.82517	2.595	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;0.998	D	0.90333	0.4353	10	0.87932	D	0	.	20.1057	0.97893	0.0:0.0:1.0:0.0	.	7968;7968;7897;7897;170	Q8NF91;E7EQI5;Q8NF91-4;E9PEL9;B7Z9Y6	SYNE1_HUMAN;.;.;.;.	Y	7968;123;614;7897;7968;7897;7580;2492;130;125;890;123	ENSP00000356224:S7968Y;ENSP00000441052:S123Y;ENSP00000356226:S614Y;ENSP00000396024:S7897Y;ENSP00000265368:S7968Y;ENSP00000390975:S7897Y;ENSP00000341887:S7580Y;ENSP00000349276:S2492Y;ENSP00000356220:S890Y;ENSP00000346701:S123Y	ENSP00000265368:S7968Y	S	-	2	0	SYNE1	152518813	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	9.813000	0.99286	2.827000	0.97445	0.650000	0.86243	TCT		0.522	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		10	56	1	0	0.000673444	1	0.000685014	10	56					T	152477120	G	T	152477120	3	4	435	1	0	0	0	0	1	0	0	0	15442	942	33	5	2623	5	SYNE1	6	152477120	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	3871	152477120	18637947	3387	24312											
SYNE1	23345	broad.mit.edu	37	chr6	152637993	152637993	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cctaaggttacctgatgcaaAatatattgttcccgaagctg	12	12	8	9	1	0	1	0	1	0	0	1	2	1	1	3	1	3	4	3	1	7	6			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:152637993A>G	ENST00000367255.5	-	87	17302	c.16701T>C	c.(16699-16701)atT>atC	p.I5567I	SYNE1_ENST00000356820.4_Silent_p.I91I|SYNE1_ENST00000265368.4_Silent_p.I5567I|SYNE1_ENST00000448038.1_Silent_p.I5496I|SYNE1_ENST00000341594.5_Silent_p.I5179I|SYNE1_ENST00000423061.1_Silent_p.I5496I	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	5567					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CCTGATGCAAAATATATTGTT	0.363										HNSCC(10;0.0054)																												ENST00000367255.5																			0				NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524						c.(16699-16701)atT>atC		spectrin repeat containing, nuclear envelope 1							90	89	89					6																	152637993		2203	4300	6503	SO:0001819	synonymous_variant	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152637993A>G	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"myocyte nuclear envelope protein 1", "nuclear envelope spectrin repeat-1"	608441	"chromosome 6 open reading frame 98"	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.16701T>C	6.37:g.152637993A>G		HNSCC(10;0.0054)				SYNE1_ENST00000448038.1_Silent_p.I5496I|SYNE1_ENST00000356820.4_Silent_p.I91I|SYNE1_ENST00000341594.5_Silent_p.I5179I|SYNE1_ENST00000423061.1_Silent_p.I5496I|SYNE1_ENST00000265368.4_Silent_p.I5567I	p.I5567I	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	87	17302	-		Ovarian(120;0.0955)	5567					E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Silent	SNP	ENST00000367255.5	37	c.16701T>C	CCDS5236.2																																																																																				0.363	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		18	23	0	0	0	1	0	18	23					G	152637993	A	G	152637993	2	3	435	1	0	0	0	0	0	0	0	1	15442	10	1	4		4	SYNE1	6	152637993	Silent	SNP	A	TCGA-XK-AAIW-01A-11D-A41K-08	160873	152637993	18477074	3388	24313											
SYNE1	23345	broad.mit.edu	37	chr6	152674874	152674874	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tatgcagtcacttcttcgtgCcacttctgaaatgacaaagt	11	13	7	10	1	3	2	1	2	2	0	4	2	3	2	1	0	2	1	1	0	3	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:152674874C>T	ENST00000367255.5	-	68	11533	c.10932G>A	c.(10930-10932)tgG>tgA	p.W3644*	SYNE1_ENST00000265368.4_Nonsense_Mutation_p.W3644*|SYNE1_ENST00000448038.1_Nonsense_Mutation_p.W3629*|SYNE1_ENST00000341594.5_Nonsense_Mutation_p.W3615*|SYNE1_ENST00000423061.1_Nonsense_Mutation_p.W3629*	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	3644					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CTTCTTCGTGCCACTTCTGAA	0.438										HNSCC(10;0.0054)																												ENST00000367255.5																			0				NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524						c.(10930-10932)tgG>tgA		spectrin repeat containing, nuclear envelope 1							129	116	121					6																	152674874		2203	4300	6503	SO:0001587	stop_gained	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152674874C>T	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"myocyte nuclear envelope protein 1", "nuclear envelope spectrin repeat-1"	608441	"chromosome 6 open reading frame 98"	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.10932G>A	6.37:g.152674874C>T	ENSP00000356224:p.Trp3644*	HNSCC(10;0.0054)				SYNE1_ENST00000448038.1_Nonsense_Mutation_p.W3629*|SYNE1_ENST00000341594.5_Nonsense_Mutation_p.W3615*|SYNE1_ENST00000423061.1_Nonsense_Mutation_p.W3629*|SYNE1_ENST00000265368.4_Nonsense_Mutation_p.W3644*	p.W3644*	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	68	11533	-		Ovarian(120;0.0955)	3644					E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Nonsense_Mutation	SNP	ENST00000367255.5	37	c.10932G>A	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	C	55	24.553214	0.99961	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594	.	.	.	5.75	5.75	0.90469	.	0.000000	0.56097	D	0.000030	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.40728	T	0.16	.	19.9598	0.97242	0.0:1.0:0.0:0.0	.	.	.	.	X	3644;3629;3644;3629;3615	.	ENSP00000265368:W3644X	W	-	3	0	SYNE1	152716567	1.000000	0.71417	1.000000	0.80357	0.927000	0.56198	4.490000	0.60319	2.716000	0.92895	0.655000	0.94253	TGG		0.438	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		26	49	0	0	0	1	0	26	49					T	152674874	C	T	152674874	4	4	435	1	0	0	0	0	0	1	0	0	15442	740	26	3	15850	3	SYNE1	6	152674874	Nonsense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	36881	152674874	18440193	3389	24314											
SYNE1	23345	broad.mit.edu	37	chr6	152676013	152676013	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cggagagactctaaagcccgGtcctctgcctgtgggatacc	8	8	12	13	2	2	1	0	0	2	1	3	4	3	3	4	3	3	0	4	3	3	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:152676013G>A	ENST00000367255.5	-	67	11308	c.10707C>T	c.(10705-10707)gaC>gaT	p.D3569D	SYNE1_ENST00000265368.4_Silent_p.D3569D|SYNE1_ENST00000448038.1_Silent_p.D3576D|SYNE1_ENST00000341594.5_Silent_p.D3540D|SYNE1_ENST00000423061.1_Silent_p.D3576D	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	3569					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CTAAAGCCCGGTCCTCTGCCT	0.547										HNSCC(10;0.0054)																												ENST00000367255.5																			0				NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524						c.(10705-10707)gaC>gaT		spectrin repeat containing, nuclear envelope 1							131	135	134					6																	152676013		2203	4300	6503	SO:0001819	synonymous_variant	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152676013G>A	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"myocyte nuclear envelope protein 1", "nuclear envelope spectrin repeat-1"	608441	"chromosome 6 open reading frame 98"	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.10707C>T	6.37:g.152676013G>A		HNSCC(10;0.0054)				SYNE1_ENST00000448038.1_Silent_p.D3576D|SYNE1_ENST00000341594.5_Silent_p.D3540D|SYNE1_ENST00000423061.1_Silent_p.D3576D|SYNE1_ENST00000265368.4_Silent_p.D3569D	p.D3569D	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	67	11308	-		Ovarian(120;0.0955)	3569					E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Silent	SNP	ENST00000367255.5	37	c.10707C>T	CCDS5236.2																																																																																				0.547	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		34	39	0	0	0	1	0	34	39					A	152676013	G	A	152676013	2	1	435	1	0	0	0	0	0	0	0	1	15442	1252	44	3		3	SYNE1	6	152676013	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	1139	152676013	18439054	3390	24315											
SYNE1	23345	broad.mit.edu	37	chr6	152686088	152686088	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggagaagtattctgaaggaCagattctcccctggtcacta	11	11	10	9	0	3	3	1	1	2	2	4	5	3	4	2	3	0	1	2	3	4	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:152686088C>T	ENST00000367255.5	-	63	10640	c.10039G>A	c.(10039-10041)Gtc>Atc	p.V3347I	SYNE1_ENST00000265368.4_Missense_Mutation_p.V3347I|SYNE1_ENST00000448038.1_Missense_Mutation_p.V3354I|SYNE1_ENST00000341594.5_Missense_Mutation_p.V3386I|SYNE1_ENST00000423061.1_Missense_Mutation_p.V3354I	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	3347					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TTCTGAAGGACAGATTCTCCC	0.433										HNSCC(10;0.0054)																												ENST00000367255.5																			0				NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524						c.(10039-10041)Gtc>Atc		spectrin repeat containing, nuclear envelope 1							154	144	147					6																	152686088		2203	4300	6503	SO:0001583	missense	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152686088C>T	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"myocyte nuclear envelope protein 1", "nuclear envelope spectrin repeat-1"	608441	"chromosome 6 open reading frame 98"	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.10039G>A	6.37:g.152686088C>T	ENSP00000356224:p.Val3347Ile	HNSCC(10;0.0054)				SYNE1_ENST00000448038.1_Missense_Mutation_p.V3354I|SYNE1_ENST00000341594.5_Missense_Mutation_p.V3386I|SYNE1_ENST00000423061.1_Missense_Mutation_p.V3354I|SYNE1_ENST00000265368.4_Missense_Mutation_p.V3347I	p.V3347I	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	63	10640	-		Ovarian(120;0.0955)	3347					E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	c.10039G>A	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	C	16.50	3.140254	0.56936	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594	T;T;T;T;T	0.49720	1.41;1.4;1.41;1.4;0.77	5.17	5.17	0.71159	.	0.114883	0.38663	N	0.001612	T	0.43299	0.1241	M	0.77820	2.39	0.80722	D	1	B;B;B;B	0.22800	0.045;0.045;0.045;0.075	B;B;B;B	0.33846	0.051;0.051;0.051;0.171	T	0.44236	-0.9341	10	0.22706	T	0.39	.	18.6813	0.91547	0.0:1.0:0.0:0.0	.	3347;3347;3347;3354	B7ZBC3;Q8NF91;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.	I	3347;3354;3347;3354;3386	ENSP00000356224:V3347I;ENSP00000396024:V3354I;ENSP00000265368:V3347I;ENSP00000390975:V3354I;ENSP00000341887:V3386I	ENSP00000265368:V3347I	V	-	1	0	SYNE1	152727781	1.000000	0.71417	0.990000	0.47175	0.999000	0.98932	4.681000	0.61663	2.405000	0.81733	0.650000	0.86243	GTC		0.433	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		30	51	0	0	0	1	0	30	51					T	152686088	C	T	152686088	3	4	435	1	0	0	0	0	1	0	0	0	15442	478	17	3	16763	3	SYNE1	6	152686088	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	10075	152686088	18428979	3391	24316											
SYNE1	23345	broad.mit.edu	37	chr6	152718015	152718015	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttgtgatttgttcttgaatgCtactgacaatttgtttagac	9	19	8	5	0	1	4	0	3	1	1	1	4	1	4	0	0	2	3	0	0	4	8			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:152718015C>T	ENST00000367255.5	-	50	8052	c.7451G>A	c.(7450-7452)aGc>aAc	p.S2484N	SYNE1_ENST00000265368.4_Missense_Mutation_p.S2484N|SYNE1_ENST00000448038.1_Missense_Mutation_p.S2491N|SYNE1_ENST00000341594.5_Missense_Mutation_p.S2523N|SYNE1_ENST00000423061.1_Missense_Mutation_p.S2491N	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	2484					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TTCTTGAATGCTACTGACAAT	0.388										HNSCC(10;0.0054)																												ENST00000367255.5																			0				NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524						c.(7450-7452)aGc>aAc		spectrin repeat containing, nuclear envelope 1							187	168	175					6																	152718015		2203	4300	6503	SO:0001583	missense	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152718015C>T	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"myocyte nuclear envelope protein 1", "nuclear envelope spectrin repeat-1"	608441	"chromosome 6 open reading frame 98"	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.7451G>A	6.37:g.152718015C>T	ENSP00000356224:p.Ser2484Asn	HNSCC(10;0.0054)				SYNE1_ENST00000448038.1_Missense_Mutation_p.S2491N|SYNE1_ENST00000341594.5_Missense_Mutation_p.S2523N|SYNE1_ENST00000423061.1_Missense_Mutation_p.S2491N|SYNE1_ENST00000265368.4_Missense_Mutation_p.S2484N	p.S2484N	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	50	8052	-		Ovarian(120;0.0955)	2484					E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	c.7451G>A	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	C	12.14	1.849984	0.32699	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594	T;T;T;T;T	0.34667	1.35;1.35;1.35;1.35;1.35	6.06	2.07	0.26955	.	0.425265	0.24573	N	0.037361	T	0.11750	0.0286	L	0.44542	1.39	0.58432	D	0.999996	B;B;B;B	0.31383	0.181;0.134;0.134;0.321	B;B;B;B	0.29862	0.036;0.05;0.05;0.108	T	0.04607	-1.0939	10	0.18710	T	0.47	.	7.782	0.29070	0.0:0.5926:0.2244:0.1829	.	2467;2484;2484;2491	B3W695;Q8NF91;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.	N	2484;2491;2484;2491;2523	ENSP00000356224:S2484N;ENSP00000396024:S2491N;ENSP00000265368:S2484N;ENSP00000390975:S2491N;ENSP00000341887:S2523N	ENSP00000265368:S2484N	S	-	2	0	SYNE1	152759708	0.983000	0.35010	0.996000	0.52242	0.998000	0.95712	0.458000	0.21892	0.898000	0.36418	0.650000	0.86243	AGC		0.388	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		18	105	0	0	0	1	0	18	105					T	152718015	C	T	152718015	3	4	435	1	0	0	0	0	1	0	0	0	15442	797	28	3	19403	3	SYNE1	6	152718015	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	31927	152718015	18397052	3392	24317											
SYNE1	23345	broad.mit.edu	37	chr6	152730298	152730298	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcagataacaagtgttttcCtttgctggtaaagttatcca	11	15	7	8	0	1	1	1	0	0	1	3	1	3	1	2	1	2	4	2	1	5	6			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:152730298C>T	ENST00000367255.5	-	44	7046	c.6445G>A	c.(6445-6447)Gga>Aga	p.G2149R	RNA5SP223_ENST00000365174.1_RNA|SYNE1_ENST00000265368.4_Missense_Mutation_p.G2149R|SYNE1_ENST00000448038.1_Missense_Mutation_p.G2156R|SYNE1_ENST00000341594.5_Missense_Mutation_p.G2186R|SYNE1_ENST00000423061.1_Missense_Mutation_p.G2156R	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	2149					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		AAGTGTTTTCCTTTGCTGGTA	0.358										HNSCC(10;0.0054)																												ENST00000367255.5																			0				NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524						c.(6445-6447)Gga>Aga		spectrin repeat containing, nuclear envelope 1							148	143	145					6																	152730298		2203	4300	6503	SO:0001583	missense	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152730298C>T	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"myocyte nuclear envelope protein 1", "nuclear envelope spectrin repeat-1"	608441	"chromosome 6 open reading frame 98"	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.6445G>A	6.37:g.152730298C>T	ENSP00000356224:p.Gly2149Arg	HNSCC(10;0.0054)				SYNE1_ENST00000448038.1_Missense_Mutation_p.G2156R|SYNE1_ENST00000341594.5_Missense_Mutation_p.G2186R|SYNE1_ENST00000423061.1_Missense_Mutation_p.G2156R|SYNE1_ENST00000265368.4_Missense_Mutation_p.G2149R	p.G2149R	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	44	7046	-		Ovarian(120;0.0955)	2149					E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	c.6445G>A	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	C	14.26	2.481682	0.44147	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594	T;T;T;T;T	0.41400	1.0;1.0;1.0;1.0;1.0	5.57	5.57	0.84162	.	0.106321	0.41605	D	0.000856	T	0.52789	0.1756	L	0.58101	1.795	0.80722	D	1	D;D;D;D	0.89917	1.0;0.995;0.995;0.994	P;P;P;D	0.64506	0.893;0.885;0.885;0.926	T	0.42932	-0.9422	10	0.37606	T	0.19	.	19.5527	0.95328	0.0:1.0:0.0:0.0	.	2132;2149;2149;2156	B3W695;Q8NF91;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.	R	2149;2156;2149;2156;2186	ENSP00000356224:G2149R;ENSP00000396024:G2156R;ENSP00000265368:G2149R;ENSP00000390975:G2156R;ENSP00000341887:G2186R	ENSP00000265368:G2149R	G	-	1	0	SYNE1	152771991	1.000000	0.71417	1.000000	0.80357	0.244000	0.25665	6.066000	0.71185	2.630000	0.89119	0.655000	0.94253	GGA		0.358	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		21	34	0	0	0	1	0	21	34					T	152730298	C	T	152730298	3	4	435	1	0	0	0	0	1	0	0	0	15442	690	24	3	20433	3	SYNE1	6	152730298	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	12283	152730298	18384769	3393	24318											
SYNE1	23345	broad.mit.edu	37	chr6	152749427	152749427	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgtattgctgctgtagagccGcagcctcctgaacacaggaa	10	8	11	12	2	0	2	0	1	0	1	1	3	1	3	3	1	5	5	3	1	4	3	rs566004273	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:152749427G>A	ENST00000367255.5	-	37	5490	c.4889C>T	c.(4888-4890)gCg>gTg	p.A1630V	SYNE1_ENST00000367253.4_Missense_Mutation_p.A1630V|SYNE1_ENST00000265368.4_Missense_Mutation_p.A1630V|SYNE1_ENST00000448038.1_Missense_Mutation_p.A1637V|SYNE1_ENST00000341594.5_Missense_Mutation_p.A1700V|SYNE1_ENST00000423061.1_Missense_Mutation_p.A1637V	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	1630					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CTGTAGAGCCGCAGCCTCCTG	0.587										HNSCC(10;0.0054)			G|||	18	0.00359425	0	0	5008	,	,		18493	0		0	False		,,,				2504	0.0184					ENST00000367255.5																			0				NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524						c.(4888-4890)gCg>gTg		spectrin repeat containing, nuclear envelope 1							142	143	143					6																	152749427		2203	4300	6503	SO:0001583	missense	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152749427G>A	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"myocyte nuclear envelope protein 1", "nuclear envelope spectrin repeat-1"	608441	"chromosome 6 open reading frame 98"	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.4889C>T	6.37:g.152749427G>A	ENSP00000356224:p.Ala1630Val	HNSCC(10;0.0054)				SYNE1_ENST00000367253.4_Missense_Mutation_p.A1630V|SYNE1_ENST00000448038.1_Missense_Mutation_p.A1637V|SYNE1_ENST00000341594.5_Missense_Mutation_p.A1700V|SYNE1_ENST00000423061.1_Missense_Mutation_p.A1637V|SYNE1_ENST00000265368.4_Missense_Mutation_p.A1630V	p.A1630V	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	37	5490	-		Ovarian(120;0.0955)	1630					E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	c.4889C>T	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	G	11.86	1.764279	0.31228	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000367253	T;T;T;T;T;T	0.52754	1.26;1.26;1.26;1.26;0.65;0.65	5.87	-3.59	0.04583	.	1.567860	0.03778	N	0.260842	T	0.13841	0.0335	L	0.46157	1.445	0.09310	N	1	B;B;B;B;B	0.24092	0.001;0.003;0.009;0.003;0.097	B;B;B;B;B	0.15484	0.001;0.001;0.004;0.001;0.013	T	0.07986	-1.0744	10	0.29301	T	0.29	.	1.7392	0.02948	0.3723:0.0905:0.3194:0.2177	.	1613;1630;1630;1630;1637	B3W695;Q8NF91;Q8NF91-6;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.;.	V	1630;1637;1630;1637;1700;1630	ENSP00000356224:A1630V;ENSP00000396024:A1637V;ENSP00000265368:A1630V;ENSP00000390975:A1637V;ENSP00000341887:A1700V;ENSP00000356222:A1630V	ENSP00000265368:A1630V	A	-	2	0	SYNE1	152791120	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-0.564000	0.05936	-0.565000	0.06061	-0.122000	0.15005	GCG		0.587	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		54	41	0	0	0	1	0	54	41					A	152749427	G	A	152749427	3	1	435	1	0	0	0	0	1	0	0	0	15442	1087	38	1	22017	1	SYNE1	6	152749427	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	19129	152749427	18365640	3394	24319											
SYNE1	23345	broad.mit.edu	37	chr6	152749493	152749493	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggctgagaaggcagtgatcGcgctgctcagtgactccagg	8	8	15	10	2	1	3	1	3	0	1	3	4	2	3	1	3	1	4	1	3	1	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:152749493G>A	ENST00000367255.5	-	37	5424	c.4823C>T	c.(4822-4824)gCg>gTg	p.A1608V	SYNE1_ENST00000367253.4_Missense_Mutation_p.A1608V|SYNE1_ENST00000265368.4_Missense_Mutation_p.A1608V|SYNE1_ENST00000448038.1_Missense_Mutation_p.A1615V|SYNE1_ENST00000341594.5_Missense_Mutation_p.A1678V|SYNE1_ENST00000423061.1_Missense_Mutation_p.A1615V	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	1608					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)	p.A1608V(2)		NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		GGCAGTGATCGCGCTGCTCAG	0.537										HNSCC(10;0.0054)																												ENST00000367255.5																			2	Substitution - Missense(2)	p.A1608V(2)	prostate(2)	NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524						c.(4822-4824)gCg>gTg		spectrin repeat containing, nuclear envelope 1							73	72	72					6																	152749493		2203	4300	6503	SO:0001583	missense	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152749493G>A	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"myocyte nuclear envelope protein 1", "nuclear envelope spectrin repeat-1"	608441	"chromosome 6 open reading frame 98"	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.4823C>T	6.37:g.152749493G>A	ENSP00000356224:p.Ala1608Val	HNSCC(10;0.0054)				SYNE1_ENST00000367253.4_Missense_Mutation_p.A1608V|SYNE1_ENST00000448038.1_Missense_Mutation_p.A1615V|SYNE1_ENST00000341594.5_Missense_Mutation_p.A1678V|SYNE1_ENST00000423061.1_Missense_Mutation_p.A1615V|SYNE1_ENST00000265368.4_Missense_Mutation_p.A1608V	p.A1608V	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	37	5424	-		Ovarian(120;0.0955)	1608					E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	c.4823C>T	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	G	9.524	1.108937	0.20714	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000367253	T;T;T;T;T;T	0.50001	0.76;0.76;0.76;0.76;0.76;0.76	5.6	2.75	0.32379	.	0.776537	0.11457	N	0.562214	T	0.10208	0.0250	N	0.08118	0	0.09310	N	0.999997	B;B;B;B;B	0.28128	0.031;0.081;0.201;0.081;0.201	B;B;B;B;B	0.24269	0.006;0.007;0.052;0.007;0.036	T	0.30031	-0.9992	10	0.27082	T	0.32	.	9.9404	0.41576	0.1251:0.2109:0.664:0.0	.	1591;1608;1608;1608;1615	B3W695;Q8NF91;Q8NF91-6;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.;.	V	1608;1615;1608;1615;1678;1608	ENSP00000356224:A1608V;ENSP00000396024:A1615V;ENSP00000265368:A1608V;ENSP00000390975:A1615V;ENSP00000341887:A1678V;ENSP00000356222:A1608V	ENSP00000265368:A1608V	A	-	2	0	SYNE1	152791186	0.117000	0.22190	0.000000	0.03702	0.000000	0.00434	1.797000	0.38804	0.333000	0.23563	-1.814000	0.00607	GCG		0.537	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		13	25	0	0	0	1	0	13	25					A	152749493	G	A	152749493	3	1	435	1	0	0	0	0	1	0	0	0	15442	1087	38	1	22083	1	SYNE1	6	152749493	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	66	152749493	18365574	3395	24320											
SYNE1	23345	broad.mit.edu	37	chr6	152771925	152771925	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gttcctcgatgagctgtaacCttttctcacagagatgatga	10	13	9	9	1	1	4	1	3	1	1	4	6	2	4	2	0	2	3	2	0	1	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:152771925C>A	ENST00000367255.5	-	27	3831	c.3230G>T	c.(3229-3231)aGg>aTg	p.R1077M	SYNE1_ENST00000367248.3_Missense_Mutation_p.R1067M|SYNE1_ENST00000367253.4_Missense_Mutation_p.R1077M|SYNE1_ENST00000265368.4_Missense_Mutation_p.R1077M|SYNE1_ENST00000413186.2_Missense_Mutation_p.R1077M|SYNE1_ENST00000448038.1_Missense_Mutation_p.R1084M|SYNE1_ENST00000341594.5_Missense_Mutation_p.R1143M|SYNE1_ENST00000423061.1_Missense_Mutation_p.R1084M	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	1077					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		GAGCTGTAACCTTTTCTCACA	0.453										HNSCC(10;0.0054)																												ENST00000367255.5																			0				NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524						c.(3229-3231)aGg>aTg		spectrin repeat containing, nuclear envelope 1							135	133	133					6																	152771925		2203	4300	6503	SO:0001583	missense	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152771925C>A	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"myocyte nuclear envelope protein 1", "nuclear envelope spectrin repeat-1"	608441	"chromosome 6 open reading frame 98"	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.3230G>T	6.37:g.152771925C>A	ENSP00000356224:p.Arg1077Met	HNSCC(10;0.0054)				SYNE1_ENST00000367248.3_Missense_Mutation_p.R1067M|SYNE1_ENST00000367253.4_Missense_Mutation_p.R1077M|SYNE1_ENST00000448038.1_Missense_Mutation_p.R1084M|SYNE1_ENST00000413186.2_Missense_Mutation_p.R1077M|SYNE1_ENST00000341594.5_Missense_Mutation_p.R1143M|SYNE1_ENST00000423061.1_Missense_Mutation_p.R1084M|SYNE1_ENST00000265368.4_Missense_Mutation_p.R1077M	p.R1077M	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	27	3831	-		Ovarian(120;0.0955)	1077					E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	c.3230G>T	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	C	28.4	4.921175	0.92249	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000367253;ENST00000367248;ENST00000413186	T;T;T;T;T;D;D;D	0.88818	0.53;0.52;0.43;0.52;0.58;-2.29;-2.43;-2.43	5.78	5.78	0.91487	.	0.000000	0.64402	D	0.000002	D	0.92773	0.7702	M	0.64997	1.995	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.91635	0.998;0.987;0.994;0.999;0.987;0.994	D	0.89610	0.3841	10	0.31617	T	0.26	.	20.3668	0.98882	0.0:1.0:0.0:0.0	.	1060;1077;1067;1077;1077;1084	B3W695;Q8NF91;F5GXQ8;Q8NF91-6;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.;.;.	M	1077;1084;1077;1084;1143;1077;1067;1077	ENSP00000356224:R1077M;ENSP00000396024:R1084M;ENSP00000265368:R1077M;ENSP00000390975:R1084M;ENSP00000341887:R1143M;ENSP00000356222:R1077M;ENSP00000356217:R1067M;ENSP00000414510:R1077M	ENSP00000265368:R1077M	R	-	2	0	SYNE1	152813618	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.204000	0.77872	2.894000	0.99253	0.655000	0.94253	AGG		0.453	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		29	91	1	0	3.1745e-13	1	3.44526e-13	29	91					A	152771925	C	A	152771925	3	1	435	1	0	0	0	0	1	0	0	0	15442	681	24	5	23716	5	SYNE1	6	152771925	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	22432	152771925	18343142	3396	24321											
MYCT1	80177	broad.mit.edu	37	chr6	153042909	153042909	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tgtccttcactgtatccatgGcaatcgggctggtacttgga	7	13	11	10	1	1	0	1	0	0	0	4	1	3	1	2	4	1	4	2	4	3	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:153042909G>A	ENST00000367245.5	+	2	237	c.229G>A	c.(229-231)Gca>Aca	p.A77T	MYCT1_ENST00000529453.1_Intron	NM_025107.2	NP_079383.2	Q8N699	MYCT1_HUMAN	myc target 1	77						nucleus (GO:0005634)				NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	20		Ovarian(120;0.0654)		OV - Ovarian serous cystadenocarcinoma(155;1.33e-10)|BRCA - Breast invasive adenocarcinoma(81;0.143)		TGTATCCATGGCAATCGGGCT	0.413																																						ENST00000367245.5																			0				NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	20						c.(229-231)Gca>Aca		myc target 1							147	133	138					6																	153042909		2203	4300	6503	SO:0001583	missense	80177					nucleus		g.chr6:153042909G>A	AF527367	CCDS5239.1	6q25.1	2008-02-05			ENSG00000120279	ENSG00000120279			23172	protein-coding gene	gene with protein product						12477932	Standard	NM_025107		Approved	MTLC, FLJ21269	uc003qpc.4	Q8N699	OTTHUMG00000015850	ENST00000367245.5:c.229G>A	6.37:g.153042909G>A	ENSP00000356214:p.Ala77Thr					MYCT1_ENST00000529453.1_Intron	p.A77T	NM_025107.2	NP_079383.2	Q8N699	MYCT1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;1.33e-10)|BRCA - Breast invasive adenocarcinoma(81;0.143)	2	237	+		Ovarian(120;0.0654)	77					Q8N396|Q8TBE8|Q9H763	Missense_Mutation	SNP	ENST00000367245.5	37	c.229G>A	CCDS5239.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	23.8|23.8	4.460110|4.460110	0.84317|0.84317	.|.	.|.	ENSG00000120279|ENSG00000120279	ENST00000367245|ENST00000532295	T|.	0.30714|.	1.52|.	5.77|5.77	5.77|5.77	0.91146|0.91146	.|.	0.291631|.	0.37483|.	N|.	0.002069|.	T|.	0.60676|.	0.2287|.	L|L	0.51422|0.51422	1.61|1.61	0.80722|0.80722	D|D	1|1	D;D|.	0.69078|.	0.997;0.997|.	P;P|.	0.56398|.	0.797;0.797|.	T|.	0.57539|.	-0.7794|.	10|.	0.29301|.	T|.	0.29|.	-20.3905|-20.3905	16.2942|16.2942	0.82762|0.82762	0.0:0.0:0.8672:0.1328|0.0:0.0:0.8672:0.1328	.|.	29;77|.	D6Q1S4;Q8N699|.	.;MYCT1_HUMAN|.	T|X	77|57	ENSP00000356214:A77T|.	ENSP00000356214:A77T|.	A|W	+|+	1|3	0|0	MYCT1|MYCT1	153084602|153084602	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.958000|0.958000	0.62258|0.62258	5.165000|5.165000	0.64959|0.64959	2.723000|2.723000	0.93209|0.93209	0.573000|0.573000	0.79308|0.79308	GCA|TGG		0.413	MYCT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042750.2	NM_025107		39	60	0	0	0	1	0	39	60					A	153042909	G	A	153042909	3	1	435	1	0	0	0	0	1	0	0	0	10022	1203	42	3	235	3	MYCT1	6	153042909	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	270984	153042909	18072158	3397	24322											
FBXO5	26271	broad.mit.edu	37	chr6	153296250	153296250	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttttgcattcttttttaatgTtgaacaaaccactttttcaa	11	20	3	7	0	2	1	1	1	1	0	2	1	2	1	1	0	3	2	1	0	4	9			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:153296250T>C	ENST00000229758.3	-	2	668	c.610A>G	c.(610-612)Aca>Gca	p.T204A	FBXO5_ENST00000477822.1_5'Flank|FBXO5_ENST00000367241.3_Missense_Mutation_p.T158A	NM_012177.3	NP_036309.1	Q9UKT4	FBX5_HUMAN	F-box protein 5	204	Interaction with EVI5.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|G1/S transition of mitotic cell cycle (GO:0000082)|inhibition of mitotic anaphase-promoting complex activity (GO:0060565)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|microtubule polymerization (GO:0046785)|mitotic cell cycle (GO:0000278)|negative regulation of meiosis (GO:0045835)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|oocyte maturation (GO:0001556)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|regulation of mitotic cell cycle (GO:0007346)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|spindle assembly involved in female meiosis I (GO:0007057)|vesicle organization (GO:0016050)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|prostate(2)|upper_aerodigestive_tract(1)	15		Ovarian(120;0.125)		OV - Ovarian serous cystadenocarcinoma(155;4.38e-10)|BRCA - Breast invasive adenocarcinoma(81;0.0893)		TTTTTTAATGTTGAACAAACC	0.373																																					NSCLC(121;372 1757 17721 17977 29669)	ENST00000367241.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|prostate(2)|upper_aerodigestive_tract(1)	15						c.(472-474)Aca>Gca		F-box protein 5							92	96	94					6																	153296250		2203	4300	6503	SO:0001583	missense	26271				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle	cytosol|nucleoplasm|spindle	metal ion binding|protein binding	g.chr6:153296250T>C	AF129535	CCDS5242.1, CCDS47501.1	6q25-q26	2008-02-05	2004-06-15		ENSG00000112029	ENSG00000112029		"F-boxes /  "other""	13584	protein-coding gene	gene with protein product		606013	"F-box only protein 5"			10531035, 10531037	Standard	NM_012177		Approved	FBX5, Fbxo31, EMI1	uc003qpg.3	Q9UKT4	OTTHUMG00000015854	ENST00000229758.3:c.610A>G	6.37:g.153296250T>C	ENSP00000229758:p.Thr204Ala					FBXO5_ENST00000229758.3_Missense_Mutation_p.T204A	p.T158A	NM_001142522.1	NP_001135994.1	Q9UKT4	FBX5_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;4.38e-10)|BRCA - Breast invasive adenocarcinoma(81;0.0893)	2	852	-		Ovarian(120;0.125)	204			Interaction with EVI5.		B3KNX5|Q5TF47|Q8WV29|Q9UGC8	Missense_Mutation	SNP	ENST00000229758.3	37	c.472A>G	CCDS5242.1	.	.	.	.	.	.	.	.	.	.	T	21.9	4.217378	0.79352	.	.	ENSG00000112029	ENST00000229758;ENST00000367241	T;T	0.44083	0.93;0.93	5.81	5.81	0.92471	.	0.089089	0.85682	D	0.000000	T	0.45816	0.1361	L	0.32530	0.975	0.48185	D	0.999605	D	0.76494	0.999	D	0.80764	0.994	T	0.49835	-0.8897	10	0.59425	D	0.04	-19.5163	16.1562	0.81670	0.0:0.0:0.0:1.0	.	204	Q9UKT4	FBX5_HUMAN	A	204;158	ENSP00000229758:T204A;ENSP00000356210:T158A	ENSP00000229758:T204A	T	-	1	0	FBXO5	153337943	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	4.211000	0.58507	2.210000	0.71456	0.533000	0.62120	ACA		0.373	FBXO5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042757.1			34	55	0	0	0	1	0	34	55					C	153296250	T	C	153296250	3	2	435	1	0	0	0	0	1	0	0	0	5758	1725	60	4	749	4	FBXO5	6	153296250	Missense_Mutation	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	253341	153296250	17818817	3398	24323											
TIAM2	26230	broad.mit.edu	37	chr6	155451307	155451307	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctctccccctcaggtatccGcctttctgatgaatacatgg	7	12	7	15	1	3	2	1	2	2	0	5	2	4	2	5	2	1	1	5	2	3	3	rs146734733		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:155451307G>A	ENST00000461783.3	+	6	2223	c.950G>A	c.(949-951)cGc>cAc	p.R317H	TIAM2_ENST00000367174.2_5'UTR|TIAM2_ENST00000456144.1_Missense_Mutation_p.R317H|TIAM2_ENST00000318981.5_Missense_Mutation_p.R317H|TIAM2_ENST00000360366.4_Missense_Mutation_p.R317H|TIAM2_ENST00000529824.2_Missense_Mutation_p.R317H			Q8IVF5	TIAM2_HUMAN	T-cell lymphoma invasion and metastasis 2	317					apoptotic signaling pathway (GO:0097190)|cellular lipid metabolic process (GO:0044255)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	cell projection (GO:0042995)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)|receptor signaling protein activity (GO:0005057)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)		TCAGGTATCCGCCTTTCTGAT	0.572																																						ENST00000461783.3																			0				breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65						c.(949-951)cGc>cAc		T-cell lymphoma invasion and metastasis 2		G	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	71	66	68		950	4.9	0.1	6	dbSNP_134	68	0,8600		0,0,4300	no	missense	TIAM2	NM_012454.3	29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	possibly-damaging	317/1702	155451307	1,13005	2203	4300	6503	SO:0001583	missense	26230				apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|filopodium|growth cone|lamellipodium	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity	g.chr6:155451307G>A		CCDS34558.1, CCDS34559.1	6q25	2013-01-10			ENSG00000146426	ENSG00000146426		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	11806	protein-coding gene	gene with protein product		604709				10512681	Standard	NM_012454		Approved	STEF	uc003qqe.3	Q8IVF5	OTTHUMG00000015880	ENST00000461783.3:c.950G>A	6.37:g.155451307G>A	ENSP00000437188:p.Arg317His					TIAM2_ENST00000529824.2_Missense_Mutation_p.R317H|TIAM2_ENST00000360366.4_Missense_Mutation_p.R317H|TIAM2_ENST00000318981.5_Missense_Mutation_p.R317H|TIAM2_ENST00000456144.1_Missense_Mutation_p.R317H|TIAM2_ENST00000367174.2_5'UTR	p.R317H			Q8IVF5	TIAM2_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)	6	2223	+		Ovarian(120;0.196)	317					B2RP56|C9JZV2|Q6NXN9|Q6ZUP9|Q9UFG6|Q9UKV9|Q9UKW0	Missense_Mutation	SNP	ENST00000461783.3	37	c.950G>A	CCDS34558.1	.	.	.	.	.	.	.	.	.	.	G	8.227	0.803768	0.16467	2.27E-4	0.0	ENSG00000146426	ENST00000461783;ENST00000528928;ENST00000528535;ENST00000456144;ENST00000318981;ENST00000360366;ENST00000529824	T;T;T;T;T;T	0.05786	3.5;3.39;3.45;3.5;3.51;3.45	4.86	4.86	0.63082	.	0.550454	0.19835	N	0.104995	T	0.04770	0.0129	M	0.71581	2.175	0.41426	D	0.987836	D	0.53151	0.958	B	0.36989	0.238	T	0.43861	-0.9365	10	0.37606	T	0.19	.	16.567	0.84601	0.0:0.0:1.0:0.0	.	317	Q8IVF5	TIAM2_HUMAN	H	317;563;317;317;317;317;317	ENSP00000437188:R317H;ENSP00000434901:R317H;ENSP00000407746:R317H;ENSP00000327315:R317H;ENSP00000353528:R317H;ENSP00000433348:R317H	ENSP00000327315:R317H	R	+	2	0	TIAM2	155492999	0.998000	0.40836	0.070000	0.20053	0.005000	0.04900	4.264000	0.58859	2.420000	0.82092	0.563000	0.77884	CGC		0.572	TIAM2-005	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000387980.2	NM_012454		6	26	0	0	0	1	0	6	26					A	155451307	G	A	155451307	3	1	435	1	0	0	0	0	1	0	0	0	15888	1087	38	1	952	1	TIAM2	6	155451307	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	2155057	155451307	15663760	3399	24324											
TFB1M	51106	broad.mit.edu	37	chr6	155581523	155581523	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagggagtgaagtgcaccacGcccacgtccaccttcgttgt	9	8	11	13	3	0	1	0	1	0	0	2	2	1	2	4	1	1	2	4	1	2	2	rs149796947	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:155581523G>A	ENST00000367166.4	-	6	733	c.678C>T	c.(676-678)ggC>ggT	p.G226G		NM_016020.3	NP_057104.2	Q8WVM0	TFB1M_HUMAN	transcription factor B1, mitochondrial	226					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	mitochondrial nucleoid (GO:0042645)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|rRNA (adenine-N6,N6-)-dimethyltransferase activity (GO:0000179)			lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;1.48e-12)|BRCA - Breast invasive adenocarcinoma(81;0.0131)		AGTGCACCACGCCCACGTCCA	0.438													G|||	2	0.000399361	0.0015	0	5008	,	,		21153	0		0	False		,,,				2504	0					ENST00000367166.4																			0				lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						c.(676-678)ggC>ggT		transcription factor B1, mitochondrial		G		2,4404	4.2+/-10.8	0,2,2201	144	117	126		678	-11.1	0.3	6	dbSNP_134	126	0,8600		0,0,4300	no	coding-synonymous	TFB1M	NM_016020.3		0,2,6501	AA,AG,GG		0.0,0.0454,0.0154		226/347	155581523	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	51106				regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrial nucleoid	DNA binding|protein binding|rRNA (adenine-N6,N6-)-dimethyltransferase activity	g.chr6:155581523G>A	AF151833	CCDS5248.1	6q25.1-q25.3	2011-01-28			ENSG00000029639	ENSG00000029639			17037	protein-coding gene	gene with protein product	"dimethyladenosine transferase 1, mitochondrial"	607033				10810093, 11809803	Standard	NM_016020		Approved	mtTFB, CGI-75	uc003qqj.4	Q8WVM0	OTTHUMG00000015881	ENST00000367166.4:c.678C>T	6.37:g.155581523G>A							p.G226G	NM_016020.3	NP_057104.2	Q8WVM0	TFB1M_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;1.48e-12)|BRCA - Breast invasive adenocarcinoma(81;0.0131)	6	733	-		Ovarian(120;0.196)	226					Q05DR0|Q9Y384	Silent	SNP	ENST00000367166.4	37	c.678C>T	CCDS5248.1																																																																																				0.438	TFB1M-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042809.1			11	16	0	0	0	1	0	11	16					A	155581523	G	A	155581523	2	1	435	1	0	0	0	0	0	0	0	1	15790	1074	38	1		1	TFB1M	6	155581523	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	130216	155581523	15533544	3400	24325											
NOX3	50508	broad.mit.edu	37	chr6	155776897	155776897	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgatacttactactaatatgGtggagagaccctcattcaaa	14	12	7	8	0	2	2	2	1	0	1	2	4	2	3	1	2	3	0	1	2	6	6			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:155776897G>A	ENST00000159060.2	-	1	140	c.38C>T	c.(37-39)aCc>aTc	p.T13I		NM_015718.2	NP_056533.1	Q9HBY0	NOX3_HUMAN	NADPH oxidase 3	13					detection of gravity (GO:0009590)|otolith development (GO:0048840)|superoxide anion generation (GO:0042554)|temperature homeostasis (GO:0001659)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|NADPH oxidase complex (GO:0043020)	superoxide-generating NADPH oxidase activity (GO:0016175)			cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	45		Breast(66;0.0183)		OV - Ovarian serous cystadenocarcinoma(155;2.18e-12)|BRCA - Breast invasive adenocarcinoma(81;0.00815)		TACTAATATGGTGGAGAGACC	0.368																																						ENST00000159060.2																			0				cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	45						c.(37-39)aCc>aTc		NADPH oxidase 3							89	85	86					6																	155776897		2203	4300	6503	SO:0001583	missense	50508						electron carrier activity|flavin adenine dinucleotide binding|iron ion binding	g.chr6:155776897G>A	AF190122	CCDS5250.1	6q25.3	2008-05-15			ENSG00000074771	ENSG00000074771			7890	protein-coding gene	gene with protein product		607105				11376945	Standard	NM_015718		Approved	GP91-3	uc003qqm.3	Q9HBY0	OTTHUMG00000015883	ENST00000159060.2:c.38C>T	6.37:g.155776897G>A	ENSP00000159060:p.Thr13Ile						p.T13I	NM_015718.2	NP_056533.1	Q9HBY0	NOX3_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;2.18e-12)|BRCA - Breast invasive adenocarcinoma(81;0.00815)	1	140	-		Breast(66;0.0183)	13					Q9HBJ9	Missense_Mutation	SNP	ENST00000159060.2	37	c.38C>T	CCDS5250.1	.	.	.	.	.	.	.	.	.	.	G	0.004	-2.270339	0.00257	.	.	ENSG00000074771	ENST00000159060	D	0.95238	-3.65	6.16	-2.13	0.07144	.	1.750600	0.02527	N	0.093231	T	0.63129	0.2485	N	0.00621	-1.32	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.67448	-0.5668	10	0.22109	T	0.4	-0.0045	7.1199	0.25437	0.5899:0.1104:0.2996:0.0	.	13	Q9HBY0	NOX3_HUMAN	I	13	ENSP00000159060:T13I	ENSP00000159060:T13I	T	-	2	0	NOX3	155818589	0.028000	0.19301	0.000000	0.03702	0.004000	0.04260	1.748000	0.38308	-0.538000	0.06281	-2.258000	0.00281	ACC		0.368	NOX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042819.1			23	37	0	0	0	1	0	23	37					A	155776897	G	A	155776897	3	1	435	1	0	0	0	0	1	0	0	0	10557	1261	44	3	1720	3	NOX3	6	155776897	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	195374	155776897	15338170	3401	24326											
ARID1B	57492	broad.mit.edu	37	chr6	157469870	157469870	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	atgcatggacaagggccaagCcagccatgtggtgctgtgcc	9	7	14	11	0	0	0	0	0	0	0	0	1	0	1	4	3	5	2	4	3	2	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:157469870C>T	ENST00000350026.5	+	8	2626	c.2625C>T	c.(2623-2625)agC>agT	p.S875S	ARID1B_ENST00000275248.4_Silent_p.S817S|ARID1B_ENST00000346085.5_Silent_p.S888S|ARID1B_ENST00000367148.1_Silent_p.S875S	NM_017519.2	NP_059989.2	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	875					chromatin-mediated maintenance of transcription (GO:0048096)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)			NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		AAGGGCCAAGCCAGCCATGTG	0.592																																						ENST00000346085.5																			0				NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81						c.(2662-2664)agC>agT		AT rich interactive domain 1B (SWI1-like)							114	102	106					6																	157469870		2203	4296	6499	SO:0001819	synonymous_variant	57492				chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity	g.chr6:157469870C>T	AF521671	CCDS5251.1, CCDS5251.2, CCDS55072.1	6q25.3	2014-09-17			ENSG00000049618	ENSG00000049618		"-"	18040	protein-coding gene	gene with protein product		614556					Standard	NM_017519		Approved	KIAA1235, ELD/OSA1, p250R, BAF250b, DAN15, 6A3-5	uc003qqo.3	Q8NFD5	OTTHUMG00000015890	ENST00000350026.5:c.2625C>T	6.37:g.157469870C>T						ARID1B_ENST00000367148.1_Silent_p.S875S|ARID1B_ENST00000350026.5_Silent_p.S875S|ARID1B_ENST00000275248.4_Silent_p.S817S	p.S888S	NM_020732.3	NP_065783.3	Q8NFD5	ARI1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)	9	2665	+		Breast(66;0.000162)|Ovarian(120;0.0265)	875					Q5JRD1|Q5VYC4|Q8IZY8|Q8TEV0|Q8TF02|Q99491|Q9ULI5	Silent	SNP	ENST00000350026.5	37	c.2664C>T	CCDS5251.2																																																																																				0.592	ARID1B-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000372723.1	NM_020732		47	43	0	0	0	1	0	47	43					T	157469870	C	T	157469870	2	4	435	1	0	0	0	0	0	0	0	1	914	738	26	3		3	ARID1B	6	157469870	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	1692973	157469870	13645197	3402	24327											
ARID1B	57492	broad.mit.edu	37	chr6	157522284	157522284	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccttctcacgtcagccagcGtcagccttatatgtcgtcct	6	12	8	15	3	3	0	3	0	1	0	6	0	4	0	4	0	3	0	4	0	2	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:157522284G>A	ENST00000350026.5	+	17	4518	c.4517G>A	c.(4516-4518)cGt>cAt	p.R1506H	ARID1B_ENST00000275248.4_Missense_Mutation_p.R1501H|ARID1B_ENST00000346085.5_Missense_Mutation_p.R1519H|ARID1B_ENST00000367148.1_Missense_Mutation_p.R1559H	NM_017519.2	NP_059989.2	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	1506	Pro-rich.		R -> H. {ECO:0000269|PubMed:22405089}.		chromatin-mediated maintenance of transcription (GO:0048096)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)			NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		GTCAGCCAGCGTCAGCCTTAT	0.582																																						ENST00000346085.5																			0				NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81						c.(4555-4557)cGt>cAt		AT rich interactive domain 1B (SWI1-like)							168	156	161					6																	157522284		2203	4296	6499	SO:0001583	missense	57492				chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity	g.chr6:157522284G>A	AF521671	CCDS5251.1, CCDS5251.2, CCDS55072.1	6q25.3	2014-09-17			ENSG00000049618	ENSG00000049618		"-"	18040	protein-coding gene	gene with protein product		614556					Standard	NM_017519		Approved	KIAA1235, ELD/OSA1, p250R, BAF250b, DAN15, 6A3-5	uc003qqo.3	Q8NFD5	OTTHUMG00000015890	ENST00000350026.5:c.4517G>A	6.37:g.157522284G>A	ENSP00000055163:p.Arg1506His					ARID1B_ENST00000367148.1_Missense_Mutation_p.R1559H|ARID1B_ENST00000350026.5_Missense_Mutation_p.R1506H|ARID1B_ENST00000275248.4_Missense_Mutation_p.R1501H	p.R1519H	NM_020732.3	NP_065783.3	Q8NFD5	ARI1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)	18	4557	+		Breast(66;0.000162)|Ovarian(120;0.0265)	1506			Pro-rich.		Q5JRD1|Q5VYC4|Q8IZY8|Q8TEV0|Q8TF02|Q99491|Q9ULI5	Missense_Mutation	SNP	ENST00000350026.5	37	c.4556G>A	CCDS5251.2	.	.	.	.	.	.	.	.	.	.	G	16.35	3.099524	0.56183	.	.	ENSG00000049618	ENST00000346085;ENST00000350026;ENST00000367148;ENST00000275248;ENST00000414678	T;T;T;T;T	0.02395	4.65;4.63;4.63;4.63;4.31	5.18	4.31	0.51392	.	0.112953	0.64402	D	0.000009	T	0.01387	0.0045	L	0.43152	1.355	0.48236	D	0.999618	B;B;B	0.34255	0.317;0.445;0.445	B;B;B	0.25140	0.026;0.058;0.058	T	0.54990	-0.8210	10	0.54805	T	0.06	.	14.0758	0.64889	0.0726:0.0:0.9274:0.0	.	1506;1519;1501	Q8NFD5;Q8NFD5-2;G3XAA0	ARI1B_HUMAN;.;.	H	1519;1506;1559;1501;1028	ENSP00000344546:R1519H;ENSP00000055163:R1506H;ENSP00000356116:R1559H;ENSP00000275248:R1501H;ENSP00000412835:R1028H	ENSP00000275248:R1501H	R	+	2	0	ARID1B	157563976	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.259000	0.72494	1.326000	0.45319	0.655000	0.94253	CGT		0.582	ARID1B-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000372723.1	NM_020732		24	25	0	0	0	1	0	24	25					A	157522284	G	A	157522284	3	1	435	1	0	0	0	0	1	0	0	0	914	1145	40	1	4626	1	ARID1B	6	157522284	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	52414	157522284	13592783	3403	24328											
ARID1B	57492	broad.mit.edu	37	chr6	157527546	157527546	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gacagcgagaagacagaaagCgatgaaaagagcagcatcgc	18	2	13	8	3	0	5	0	1	0	4	1	8	0	5	0	0	4	2	0	0	4	0	rs555132244		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:157527546C>T	ENST00000350026.5	+	19	5233	c.5232C>T	c.(5230-5232)agC>agT	p.S1744S	ARID1B_ENST00000275248.4_Silent_p.S1739S|ARID1B_ENST00000346085.5_Silent_p.S1757S|ARID1B_ENST00000367148.1_Silent_p.S1797S	NM_017519.2	NP_059989.2	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	1744					chromatin-mediated maintenance of transcription (GO:0048096)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)			NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		AGACAGAAAGCGATGAAAAGA	0.527													C|||	1	0.000199681	0	0	5008	,	,		19880	0.001		0	False		,,,				2504	0					ENST00000346085.5																			0				NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81						c.(5269-5271)agC>agT		AT rich interactive domain 1B (SWI1-like)							93	90	91					6																	157527546		2203	4296	6499	SO:0001819	synonymous_variant	57492				chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity	g.chr6:157527546C>T	AF521671	CCDS5251.1, CCDS5251.2, CCDS55072.1	6q25.3	2014-09-17			ENSG00000049618	ENSG00000049618		"-"	18040	protein-coding gene	gene with protein product		614556					Standard	NM_017519		Approved	KIAA1235, ELD/OSA1, p250R, BAF250b, DAN15, 6A3-5	uc003qqo.3	Q8NFD5	OTTHUMG00000015890	ENST00000350026.5:c.5232C>T	6.37:g.157527546C>T						ARID1B_ENST00000367148.1_Silent_p.S1797S|ARID1B_ENST00000350026.5_Silent_p.S1744S|ARID1B_ENST00000275248.4_Silent_p.S1739S	p.S1757S	NM_020732.3	NP_065783.3	Q8NFD5	ARI1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)	20	5272	+		Breast(66;0.000162)|Ovarian(120;0.0265)	1744					Q5JRD1|Q5VYC4|Q8IZY8|Q8TEV0|Q8TF02|Q99491|Q9ULI5	Silent	SNP	ENST00000350026.5	37	c.5271C>T	CCDS5251.2																																																																																				0.527	ARID1B-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000372723.1	NM_020732		33	60	0	0	0	1	0	33	60					T	157527546	C	T	157527546	2	4	435	1	0	0	0	0	0	0	0	1	914	767	27	1		1	ARID1B	6	157527546	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	5262	157527546	13587521	3404	24329											
ZDHHC14	79683	broad.mit.edu	37	chr6	158093781	158093781	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccaagaccagtgcattcagaGcaccaaattcgttttgcagg	12	9	9	11	1	1	2	1	0	0	2	2	2	1	2	3	1	3	4	3	1	2	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:158093781G>A	ENST00000359775.5	+	9	1983	c.1094G>A	c.(1093-1095)aGc>aAc	p.S365N	ZDHHC14_ENST00000414563.2_Intron|ZDHHC14_ENST00000341375.8_3'UTR			Q8IZN3	ZDH14_HUMAN	zinc finger, DHHC-type containing 14	365					protein palmitoylation (GO:0018345)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(8)|ovary(1)|skin(1)	17		Breast(66;0.00586)|Ovarian(120;0.123)		OV - Ovarian serous cystadenocarcinoma(65;2.9e-17)|BRCA - Breast invasive adenocarcinoma(81;5.8e-05)		TGCATTCAGAGCACCAAATTC	0.662																																						ENST00000359775.5																			0				central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(8)|ovary(1)|skin(1)	17						c.(1093-1095)aGc>aAc		zinc finger, DHHC-type containing 14							28	26	27					6																	158093781		2158	4210	6368	SO:0001583	missense	79683					integral to membrane	acyltransferase activity|zinc ion binding	g.chr6:158093781G>A	AF542388	CCDS5252.1, CCDS47510.1	6q25.3	2008-05-02			ENSG00000175048	ENSG00000175048		"Zinc fingers, DHHC-type"	20341	protein-coding gene	gene with protein product							Standard	NM_024630		Approved	FLJ20984, NEW1CP	uc003qqt.3	Q8IZN3	OTTHUMG00000015896	ENST00000359775.5:c.1094G>A	6.37:g.158093781G>A	ENSP00000352821:p.Ser365Asn					ZDHHC14_ENST00000414563.2_Intron|ZDHHC14_ENST00000341375.8_3'UTR	p.S365N			Q8IZN3	ZDH14_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.9e-17)|BRCA - Breast invasive adenocarcinoma(81;5.8e-05)	9	1983	+		Breast(66;0.00586)|Ovarian(120;0.123)	365					A6NDB7|Q5JS07|Q5JS08|Q6PHS4|Q8IZN2|Q9H7F1	Missense_Mutation	SNP	ENST00000359775.5	37	c.1094G>A	CCDS5252.1	.	.	.	.	.	.	.	.	.	.	G	24.4	4.525305	0.85600	.	.	ENSG00000175048	ENST00000359775;ENST00000538483	T	0.28255	1.62	5.53	5.53	0.82687	.	0.717398	0.14313	N	0.327523	T	0.20780	0.0500	L	0.59436	1.845	0.80722	D	1	B	0.33694	0.421	B	0.32864	0.154	T	0.07309	-1.0779	10	0.18710	T	0.47	-27.3392	19.4714	0.94965	0.0:0.0:1.0:0.0	.	365	Q8IZN3	ZDH14_HUMAN	N	365;369	ENSP00000352821:S365N	ENSP00000352821:S365N	S	+	2	0	ZDHHC14	158013769	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.312000	0.96287	2.596000	0.87737	0.563000	0.77884	AGC		0.662	ZDHHC14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042841.2	NM_153746		10	15	0	0	0	1	0	10	15					A	158093781	G	A	158093781	3	1	435	1	0	0	0	0	1	0	0	0	17601	971	34	3	1128	3	ZDHHC14	6	158093781	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	566235	158093781	13021286	3405	24330											
SERAC1	84947	broad.mit.edu	37	chr6	158571515	158571515	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctttgtctaaagaaactgTgtgcacatatatatatgact	13	15	6	7	0	1	2	0	1	1	1	2	2	2	2	1	0	2	1	1	0	7	6			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:158571515T>G	ENST00000367104.3	-	4	366	c.235A>C	c.(235-237)Aca>Cca	p.T79P	SERAC1_ENST00000367101.1_Missense_Mutation_p.T79P|SERAC1_ENST00000367102.2_Missense_Mutation_p.T79P|SERAC1_ENST00000607000.1_Missense_Mutation_p.T79P	NM_032861.3	NP_116250.3	Q96JX3	SRAC1_HUMAN	serine active site containing 1	79					extracellular matrix organization (GO:0030198)|GPI anchor metabolic process (GO:0006505)|intracellular protein transport (GO:0006886)|phospholipid biosynthetic process (GO:0008654)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	hydrolase activity, acting on ester bonds (GO:0016788)			endometrium(1)|kidney(2)|large_intestine(6)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	15		Breast(66;0.00519)|Ovarian(120;0.123)|Prostate(117;0.178)		OV - Ovarian serous cystadenocarcinoma(65;1.37e-18)|BRCA - Breast invasive adenocarcinoma(81;3.19e-05)		AAAGAAACTGTGTGCACATAT	0.323																																						ENST00000367102.2																			0				endometrium(1)|kidney(2)|large_intestine(6)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	15						c.(235-237)Aca>Cca		serine active site containing 1							101	101	101					6																	158571515		2203	4297	6500	SO:0001583	missense	84947				GPI anchor metabolic process|intracellular protein transport	integral to membrane|intrinsic to endoplasmic reticulum membrane	binding|hydrolase activity, acting on ester bonds	g.chr6:158571515T>G	BC001705	CCDS5255.1	6q25.3	2003-05-12			ENSG00000122335	ENSG00000122335			21061	protein-coding gene	gene with protein product		614725					Standard	NM_032861		Approved	FLJ14917	uc003qrc.2	Q96JX3	OTTHUMG00000015905	ENST00000367104.3:c.235A>C	6.37:g.158571515T>G	ENSP00000356071:p.Thr79Pro					SERAC1_ENST00000367101.1_Missense_Mutation_p.T79P|SERAC1_ENST00000367104.3_Missense_Mutation_p.T79P|SERAC1_ENST00000607000.1_Missense_Mutation_p.T79P	p.T79P			Q96JX3	SRAC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;1.37e-18)|BRCA - Breast invasive adenocarcinoma(81;3.19e-05)	4	376	-		Breast(66;0.00519)|Ovarian(120;0.123)|Prostate(117;0.178)	79					Q49AT1|Q5VTX3|Q6PKF3	Missense_Mutation	SNP	ENST00000367104.3	37	c.235A>C	CCDS5255.1	.	.	.	.	.	.	.	.	.	.	T	5.463	0.270431	0.10349	.	.	ENSG00000122335	ENST00000367102;ENST00000367104;ENST00000367101	T;T;T	0.67865	-0.29;-0.29;-0.29	5.91	-1.31	0.09230	.	0.737214	0.14024	N	0.346608	T	0.33089	0.0851	L	0.57536	1.79	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.27434	-1.0074	10	0.52906	T	0.07	-4.4005	1.7869	0.03044	0.11:0.234:0.2249:0.431	.	79	Q96JX3	SRAC1_HUMAN	P	79	ENSP00000356069:T79P;ENSP00000356071:T79P;ENSP00000356068:T79P	ENSP00000356068:T79P	T	-	1	0	SERAC1	158491503	0.000000	0.05858	0.000000	0.03702	0.022000	0.10575	-0.185000	0.09684	-0.146000	0.11274	-0.133000	0.14855	ACA		0.323	SERAC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042862.1	NM_032861		15	31	0	0	0	1	0	15	31					G	158571515	T	G	158571515	3	3	435	1	0	0	0	0	1	0	0	0	14074	1696	59	5	1785	5	SERAC1	6	158571515	Missense_Mutation	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	477734	158571515	12543552	3406	24331											
TULP4	56995	broad.mit.edu	37	chr6	158870174	158870174	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtggaggacagcagcgagagCgacacggactcagatgacta	13	4	15	9	3	1	3	1	1	0	2	1	8	1	6	0	3	3	1	0	3	1	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:158870174C>T	ENST00000367097.3	+	4	2047	c.690C>T	c.(688-690)agC>agT	p.S230S	TULP4_ENST00000367094.2_Silent_p.S230S	NM_020245.4	NP_064630.2	Q9NRJ4	TULP4_HUMAN	tubby like protein 4	230					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)|regulation of transcription, DNA-templated (GO:0006355)|response to nutrient (GO:0007584)	cytoplasm (GO:0005737)	sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(7)|kidney(2)|large_intestine(15)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171)		OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05)		GCAGCGAGAGCGACACGGACT	0.582																																						ENST00000367097.3																			0				endometrium(7)|kidney(2)|large_intestine(15)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49						c.(688-690)agC>agT		tubby like protein 4							177	141	153					6																	158870174		2203	4300	6503	SO:0001819	synonymous_variant	56995				intracellular signal transduction|response to nutrient	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity	g.chr6:158870174C>T		CCDS34561.1, CCDS34562.1	6q25-q26	2013-01-10			ENSG00000130338	ENSG00000130338		"WD repeat domain containing"	15530	protein-coding gene	gene with protein product						11595174	Standard	NM_020245		Approved	TUSP, KIAA1397	uc003qrf.3	Q9NRJ4	OTTHUMG00000015910	ENST00000367097.3:c.690C>T	6.37:g.158870174C>T						TULP4_ENST00000367094.2_Silent_p.S230S	p.S230S	NM_020245.4	NP_064630.2	Q9NRJ4	TULP4_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05)	4	2047	+		Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171)	230					Q5T3M2|Q5T3M3|Q9HD22|Q9P2F0	Silent	SNP	ENST00000367097.3	37	c.690C>T	CCDS34561.1																																																																																				0.582	TULP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042869.1	NM_020245		18	27	0	0	0	1	0	18	27					T	158870174	C	T	158870174	2	4	435	1	0	0	0	0	0	0	0	1	16773	767	27	1		1	TULP4	6	158870174	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	298659	158870174	12244893	3407	24332											
TULP4	56995	broad.mit.edu	37	chr6	158902117	158902117	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagatccgaacaacatgagaGactttgtcagctacccatca	14	8	7	12	1	2	3	2	1	0	2	3	5	3	3	2	0	4	1	2	0	3	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:158902117G>T	ENST00000367097.3	+	8	2639	c.1282G>T	c.(1282-1284)Gac>Tac	p.D428Y	TULP4_ENST00000367094.2_Missense_Mutation_p.D428Y	NM_020245.4	NP_064630.2	Q9NRJ4	TULP4_HUMAN	tubby like protein 4	428					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)|regulation of transcription, DNA-templated (GO:0006355)|response to nutrient (GO:0007584)	cytoplasm (GO:0005737)	sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(7)|kidney(2)|large_intestine(15)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171)		OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05)		CAACATGAGAGACTTTGTCAG	0.582																																						ENST00000367097.3																			0				endometrium(7)|kidney(2)|large_intestine(15)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49						c.(1282-1284)Gac>Tac		tubby like protein 4							74	77	76					6																	158902117		2203	4300	6503	SO:0001583	missense	56995				intracellular signal transduction|response to nutrient	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity	g.chr6:158902117G>T		CCDS34561.1, CCDS34562.1	6q25-q26	2013-01-10			ENSG00000130338	ENSG00000130338		"WD repeat domain containing"	15530	protein-coding gene	gene with protein product						11595174	Standard	NM_020245		Approved	TUSP, KIAA1397	uc003qrf.3	Q9NRJ4	OTTHUMG00000015910	ENST00000367097.3:c.1282G>T	6.37:g.158902117G>T	ENSP00000356064:p.Asp428Tyr					TULP4_ENST00000367094.2_Missense_Mutation_p.D428Y	p.D428Y	NM_020245.4	NP_064630.2	Q9NRJ4	TULP4_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05)	8	2639	+		Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171)	428					Q5T3M2|Q5T3M3|Q9HD22|Q9P2F0	Missense_Mutation	SNP	ENST00000367097.3	37	c.1282G>T	CCDS34561.1	.	.	.	.	.	.	.	.	.	.	G	27.5	4.835972	0.91117	.	.	ENSG00000130338	ENST00000367097;ENST00000367094	T;T	0.62941	-0.01;-0.01	5.31	5.31	0.75309	Tumour necrosis factor-like (1);	0.000000	0.85682	D	0.000000	T	0.72471	0.3464	L	0.55481	1.735	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.91635	0.956;0.998;0.999	T	0.75300	-0.3366	10	0.87932	D	0	-36.5513	18.9788	0.92747	0.0:0.0:1.0:0.0	.	428;428;428	B4E202;Q9NRJ4-2;Q9NRJ4	.;.;TULP4_HUMAN	Y	428	ENSP00000356064:D428Y;ENSP00000356061:D428Y	ENSP00000356061:D428Y	D	+	1	0	TULP4	158822105	1.000000	0.71417	1.000000	0.80357	0.842000	0.47809	7.326000	0.79133	2.491000	0.84063	0.561000	0.74099	GAC		0.582	TULP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042869.1	NM_020245		24	30	1	0	2.41591e-17	1	2.65831e-17	24	30					T	158902117	G	T	158902117	3	4	435	1	0	0	0	0	1	0	0	0	16773	942	33	5	1312	5	TULP4	6	158902117	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	31943	158902117	12212950	3408	24333											
TMEM181	57583	broad.mit.edu	37	chr6	159029451	159029451	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agtccatgttcctgtgcgccCtgctgctcttctggctgtgc	2	14	11	14	1	2	0	0	0	2	0	4	0	4	0	3	1	4	4	3	1	0	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:159029451C>A	ENST00000367090.3	+	9	1182	c.1171C>A	c.(1171-1173)Ctg>Atg	p.L391M		NM_020823.1	NP_065874.1	Q9P2C4	TM181_HUMAN	transmembrane protein 181	391					pathogenesis (GO:0009405)	integral component of membrane (GO:0016021)	toxic substance binding (GO:0015643)			central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(1)	22		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;8.15e-18)|BRCA - Breast invasive adenocarcinoma(81;1.38e-05)		CCTGTGCGCCCTGCTGCTCTT	0.617																																						ENST00000367090.3																			0				central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(1)	22						c.(1171-1173)Ctg>Atg		transmembrane protein 181							143	140	141					6																	159029451		2131	4262	6393	SO:0001583	missense	57583				pathogenesis	integral to membrane	toxin binding	g.chr6:159029451C>A	AB037844	CCDS43520.1	6q25.3	2012-08-10	2006-10-19	2006-10-19	ENSG00000146433	ENSG00000146433			20958	protein-coding gene	gene with protein product		613209	"G protein-coupled receptor 178", "KIAA1423"	KIAA1423, GPR178		16452613	Standard	NM_020823		Approved		uc003qrm.4	Q9P2C4	OTTHUMG00000015913	ENST00000367090.3:c.1171C>A	6.37:g.159029451C>A	ENSP00000356057:p.Leu391Met						p.L391M	NM_020823.1	NP_065874.1	Q9P2C4	TM181_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;8.15e-18)|BRCA - Breast invasive adenocarcinoma(81;1.38e-05)	9	1182	+		Breast(66;0.000776)|Ovarian(120;0.0303)	391					Q5VTU1	Missense_Mutation	SNP	ENST00000367090.3	37	c.1171C>A	CCDS43520.1	.	.	.	.	.	.	.	.	.	.	C	15.19	2.761100	0.49468	.	.	ENSG00000146433	ENST00000314630;ENST00000367090	T	0.65732	-0.17	5.21	-7.92	0.01160	.	0.000000	0.85682	D	0.000000	T	0.62974	0.2472	M	0.64567	1.98	0.58432	D	0.999997	D	0.89917	1.0	D	0.97110	1.0	T	0.79115	-0.1936	10	0.59425	D	0.04	.	17.1131	0.86681	0.0:0.2477:0.0:0.7523	.	391	Q9P2C4	TM181_HUMAN	M	298;391	ENSP00000356057:L391M	ENSP00000323755:L298M	L	+	1	2	TMEM181	158949439	0.000000	0.05858	0.915000	0.36163	0.711000	0.40976	-0.326000	0.07965	-1.719000	0.01382	-1.000000	0.02509	CTG		0.617	TMEM181-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042873.1	NM_020823		23	50	1	0	3.5997e-14	1	3.92294e-14	23	50					A	159029451	C	A	159029451	3	1	435	1	0	0	0	0	1	0	0	0	16097	680	24	5	1205	5	TMEM181	6	159029451	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	127334	159029451	12085616	3409	24334											
SYTL3	94120	broad.mit.edu	37	chr6	159129420	159129420	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagtgcagccgcagtcctggCagggtaacgtatccattctg	8	9	12	12	2	1	0	0	0	1	0	3	0	3	0	3	2	3	5	3	2	2	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:159129420C>T	ENST00000297239.9	+	7	707	c.513C>T	c.(511-513)ggC>ggT	p.G171G	SYTL3_ENST00000360448.3_Silent_p.G171G|SYTL3_ENST00000367081.3_Intron			Q4VX76	SYTL3_HUMAN	synaptotagmin-like 3	171					exocytosis (GO:0006887)|intracellular protein transport (GO:0006886)	membrane (GO:0016020)	calcium-dependent phospholipid binding (GO:0005544)			endometrium(2)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|urinary_tract(1)	20		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;1.54e-17)|BRCA - Breast invasive adenocarcinoma(81;8.24e-06)		GCAGTCCTGGCAGGGTAACGT	0.557																																						ENST00000297239.9																			0				endometrium(2)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|urinary_tract(1)	20						c.(511-513)ggC>ggT		synaptotagmin-like 3							96	83	88					6																	159129420		2203	4300	6503	SO:0001819	synonymous_variant	94120				intracellular protein transport	endomembrane system|membrane	Rab GTPase binding	g.chr6:159129420C>T	AK055750	CCDS34563.1, CCDS56458.1	6q25.3	2008-07-04			ENSG00000164674	ENSG00000164674			15587	protein-coding gene	gene with protein product						11773082	Standard	NM_001242384		Approved	SLP3, exophilin-6	uc003qrp.3	Q4VX76	OTTHUMG00000015916	ENST00000297239.9:c.513C>T	6.37:g.159129420C>T						SYTL3_ENST00000360448.3_Silent_p.G171G|SYTL3_ENST00000367081.3_Intron	p.G171G			Q4VX76	SYTL3_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;1.54e-17)|BRCA - Breast invasive adenocarcinoma(81;8.24e-06)	7	707	+		Breast(66;0.000776)|Ovarian(120;0.0303)	171					Q496J4|Q496J6|Q5U3B9	Silent	SNP	ENST00000297239.9	37	c.513C>T	CCDS56458.1																																																																																				0.557	SYTL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042876.1			5	24	0	0	0	1	0	5	24					T	159129420	C	T	159129420	2	4	435	1	0	0	0	0	0	0	0	1	15481	697	25	3		3	SYTL3	6	159129420	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	99969	159129420	11985647	3410	24335											
RSPH3	83861	broad.mit.edu	37	chr6	159403613	159403613	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tactcacgctgactggcccgCaggttagccagctcttcttc	6	11	9	15	2	3	1	1	1	2	0	4	1	3	1	2	2	3	4	2	2	2	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:159403613C>T	ENST00000252655.1	-	5	1215	c.1026G>A	c.(1024-1026)ctG>ctA	p.L342L	RSPH3_ENST00000297262.3_Silent_p.L246L|RSPH3_ENST00000367069.2_Silent_p.L200L|RSPH3_ENST00000449822.1_Silent_p.L104L	NM_031924.4	NP_114130.3	Q86UC2	RSPH3_HUMAN	radial spoke 3 homolog (Chlamydomonas)	342										endometrium(3)|kidney(2)|large_intestine(1)|lung(7)|ovary(2)|skin(1)|stomach(7)	23		Breast(66;0.00519)|Ovarian(120;0.123)		OV - Ovarian serous cystadenocarcinoma(65;2.36e-16)|BRCA - Breast invasive adenocarcinoma(81;5.92e-06)		GACTGGCCCGCAGGTTAGCCA	0.448																																						ENST00000367069.2																			0				endometrium(3)|kidney(2)|large_intestine(1)|lung(7)|ovary(2)|skin(1)|stomach(7)	23						c.(598-600)ctG>ctA		radial spoke 3 homolog (Chlamydomonas)							79	69	73					6																	159403613		2203	4300	6503	SO:0001819	synonymous_variant	83861							g.chr6:159403613C>T	AF353618	CCDS5260.1	6q25.3	2014-05-16	2008-07-04	2007-06-26	ENSG00000130363	ENSG00000130363			21054	protein-coding gene	gene with protein product		615876	"radial spokehead-like 2"	RSHL2		12477932	Standard	NM_031924		Approved	dJ111C20.1, RSP3	uc003qrx.3	Q86UC2	OTTHUMG00000015924	ENST00000252655.1:c.1026G>A	6.37:g.159403613C>T						RSPH3_ENST00000449822.1_Silent_p.L104L|RSPH3_ENST00000297262.3_Silent_p.L246L|RSPH3_ENST00000252655.1_Silent_p.L342L	p.L200L			Q86UC2	RSPH3_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.36e-16)|BRCA - Breast invasive adenocarcinoma(81;5.92e-06)	5	1236	-		Breast(66;0.00519)|Ovarian(120;0.123)	342					Q96LQ5|Q96LX2|Q9BX75	Silent	SNP	ENST00000252655.1	37	c.600G>A	CCDS5260.1																																																																																				0.448	RSPH3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_031924		20	35	0	0	0	1	0	20	35					T	159403613	C	T	159403613	2	4	435	1	0	0	0	0	0	0	0	1	13705	697	25	3		3	RSPH3	6	159403613	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	274193	159403613	11711454	3411	24336											
TAGAP	117289	broad.mit.edu	37	chr6	159457259	159457259	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tggctgccgggccctgcatgGcctcttcataagagggtggg	5	9	16	11	1	2	1	1	0	1	1	2	1	2	1	3	5	2	2	3	5	1	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:159457259G>A	ENST00000367066.3	-	10	2127	c.1796C>T	c.(1795-1797)gCc>gTc	p.A599V	RP1-111C20.4_ENST00000607391.1_RNA|RP1-111C20.4_ENST00000607796.1_RNA|TAGAP_ENST00000326965.6_Missense_Mutation_p.A421V|RP1-111C20.4_ENST00000606470.1_RNA|RP1-111C20.4_ENST00000606466.1_RNA	NM_001278733.1|NM_054114.3	NP_001265662.1|NP_473455.2	Q8N103	TAGAP_HUMAN	T-cell activation RhoGTPase activating protein	599					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	guanyl-nucleotide exchange factor activity (GO:0005085)			NS(1)|autonomic_ganglia(1)|endometrium(3)|large_intestine(8)|lung(7)|ovary(2)|skin(1)	23		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.16e-16)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06)		GCCCTGCATGGCCTCTTCATA	0.667																																						ENST00000367066.3																			0				NS(1)|autonomic_ganglia(1)|endometrium(3)|large_intestine(8)|lung(7)|ovary(2)|skin(1)	23						c.(1795-1797)gCc>gTc		T-cell activation RhoGTPase activating protein							37	42	40					6																	159457259		2203	4300	6503	SO:0001583	missense	117289				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|guanyl-nucleotide exchange factor activity	g.chr6:159457259G>A	AF385429	CCDS5261.1, CCDS5262.1, CCDS5263.1	6q25.3	2011-09-07	2008-03-25		ENSG00000164691	ENSG00000164691		"Rho GTPase activating proteins"	15669	protein-coding gene	gene with protein product		609667	"T-cell activation GTPase activating protein"			16375659, 18311140, 18356936	Standard	NM_152133		Approved	FLJ32631, IDDM21, ARHGAP47	uc003qrz.3	Q8N103	OTTHUMG00000015923	ENST00000367066.3:c.1796C>T	6.37:g.159457259G>A	ENSP00000356033:p.Ala599Val					RP1-111C20.4_ENST00000607391.1_RNA|RP1-111C20.4_ENST00000606466.1_RNA|RP1-111C20.4_ENST00000607796.1_RNA|RP1-111C20.4_ENST00000606470.1_RNA|TAGAP_ENST00000326965.6_Missense_Mutation_p.A421V	p.A599V	NM_054114.3	NP_473455.2	Q8N103	TAGAP_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.16e-16)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06)	10	2127	-		Breast(66;0.000776)|Ovarian(120;0.0303)	599					Q2NKM8|Q8NI40|Q96KZ2|Q96QA2	Missense_Mutation	SNP	ENST00000367066.3	37	c.1796C>T	CCDS5261.1	.	.	.	.	.	.	.	.	.	.	G	25.1	4.606783	0.87157	.	.	ENSG00000164691	ENST00000367066;ENST00000326965;ENST00000539071	T;T	0.55234	0.53;0.53	5.54	5.54	0.83059	.	0.075882	0.53938	D	0.000043	T	0.66509	0.2796	M	0.77103	2.36	0.80722	D	1	D	0.69078	0.997	P	0.59546	0.859	T	0.71140	-0.4679	10	0.87932	D	0	-18.3125	19.077	0.93167	0.0:0.0:1.0:0.0	.	599	Q8N103	TAGAP_HUMAN	V	599;421;264	ENSP00000356033:A599V;ENSP00000322650:A421V	ENSP00000322650:A421V	A	-	2	0	TAGAP	159377247	1.000000	0.71417	0.979000	0.43373	0.289000	0.27227	8.693000	0.91288	2.595000	0.87683	0.655000	0.94253	GCC		0.667	TAGAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042890.1	NM_054114		20	23	0	0	0	1	0	20	23					A	159457259	G	A	159457259	3	1	435	1	0	0	0	0	1	0	0	0	15534	1203	42	3	403	3	TAGAP	6	159457259	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	53646	159457259	11657808	3412	24337											
FNDC1	84624	broad.mit.edu	37	chr6	159653200	159653200	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgggttcccgggaggactcGcccatgtcaccctcagacac	7	7	11	16	2	2	1	2	0	0	1	4	3	3	3	3	3	0	1	3	3	0	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:159653200G>A	ENST00000297267.9	+	11	1856	c.1656G>A	c.(1654-1656)tcG>tcA	p.S552S	FNDC1_ENST00000340366.6_Silent_p.S489S	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	552					cellular response to hypoxia (GO:0071456)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of protein phosphorylation (GO:0001934)|regulation of protein transport (GO:0051223)	cell-cell junction (GO:0005911)|extracellular region (GO:0005576)|mitochondrial membrane (GO:0031966)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		GGGAGGACTCGCCCATGTCAC	0.632																																						ENST00000297267.9																			0				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93						c.(1654-1656)tcG>tcA		fibronectin type III domain containing 1							31	38	35					6																	159653200		2007	4173	6180	SO:0001819	synonymous_variant	84624					extracellular region		g.chr6:159653200G>A	AB058769	CCDS47512.1	6q25	2013-02-11			ENSG00000164694	ENSG00000164694		"Fibronectin type III domain containing"	21184	protein-coding gene	gene with protein product		609991	"fibronectin type III domain containing 2"	FNDC2		11347906	Standard	NM_032532		Approved	bA243O10.1, KIAA1866, dJ322A24.1	uc010kjv.3	Q4ZHG4	OTTHUMG00000015927	ENST00000297267.9:c.1656G>A	6.37:g.159653200G>A						FNDC1_ENST00000340366.6_Silent_p.S489S	p.S552S	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)	11	1856	+		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)	552					A6H8X2|B7ZBR4|B7ZBR5|B9EK49|Q5JPI0|Q5VU31|Q5VU32|Q5VXX4|Q70CQ6|Q96JG1	Silent	SNP	ENST00000297267.9	37	c.1656G>A	CCDS47512.1	.	.	.	.	.	.	.	.	.	.	G	5.156	0.214323	0.09810	.	.	ENSG00000164694	ENST00000329629	.	.	.	5.4	-10.8	0.00216	.	.	.	.	.	T	0.04272	0.0118	.	.	.	0.19575	N	0.999966	.	.	.	.	.	.	T	0.16928	-1.0386	4	.	.	.	-2.2746	2.0042	0.03474	0.2035:0.3962:0.1272:0.2732	.	.	.	.	T	448	.	.	A	+	1	0	FNDC1	159573190	0.000000	0.05858	0.003000	0.11579	0.002000	0.02628	-0.906000	0.04071	-1.905000	0.01090	-1.316000	0.01300	GCC		0.632	FNDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042897.3	NM_032532		6	13	0	0	0	1	0	6	13					A	159653200	G	A	159653200	2	1	435	1	0	0	0	0	0	0	0	1	5968	1074	38	1		1	FNDC1	6	159653200	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	195941	159653200	11461867	3413	24338											
IGF2R	3482	broad.mit.edu	37	chr6	160482960	160482960	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tttgagtgtgctcagatatcGgtgtgtgttcagaccagcaa	9	13	12	7	1	2	3	2	1	0	2	3	3	2	3	1	1	2	3	1	1	2	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:160482960G>A	ENST00000356956.1	+	25	3730	c.3582G>A	c.(3580-3582)tcG>tcA	p.S1194S		NM_000876.2	NP_000867	P11717	MPRI_HUMAN	insulin-like growth factor 2 receptor	1194					insulin-like growth factor receptor signaling pathway (GO:0048009)|liver development (GO:0001889)|organ regeneration (GO:0031100)|positive regulation of apoptotic process (GO:0043065)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|response to retinoic acid (GO:0032526)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)	cell surface (GO:0009986)|clathrin coat (GO:0030118)|endocytic vesicle (GO:0030139)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)|nuclear envelope lumen (GO:0005641)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network transport vesicle (GO:0030140)	G-protein coupled receptor activity (GO:0004930)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|insulin-like growth factor-activated receptor activity (GO:0005010)|mannose binding (GO:0005537)|phosphoprotein binding (GO:0051219)|receptor activity (GO:0004872)|retinoic acid binding (GO:0001972)|transporter activity (GO:0005215)			breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Breast(66;0.000777)|Ovarian(120;0.0305)		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)	Mecasermin(DB01277)	CTCAGATATCGGTGTGTGTTC	0.488																																						ENST00000356956.1																			0				breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	95						c.e25+1		insulin-like growth factor 2 receptor							147	139	142					6																	160482960		2203	4300	6503	SO:0001630	splice_region_variant	3482				receptor-mediated endocytosis	cell surface|endocytic vesicle|endosome|integral to plasma membrane|lysosomal membrane|trans-Golgi network transport vesicle	glycoprotein binding|insulin-like growth factor receptor activity|phosphoprotein binding|transporter activity	g.chr6:160482960G>A	J03528	CCDS5273.1	6q25.3	2014-09-16			ENSG00000197081	ENSG00000197081		"CD molecules"	5467	protein-coding gene	gene with protein product	"cation-independent mannose-6 phosphate receptor"	147280					Standard	NM_000876		Approved	CD222, MPRI, MPR1, CIMPR, M6P-R	uc003qta.3	P11717	OTTHUMG00000015945	ENST00000356956.1:c.3582+1G>A	6.37:g.160482960G>A							p.S1194_splice	NM_000876.2	NP_000867.2	P11717	MPRI_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)	25	3730	+		Breast(66;0.000777)|Ovarian(120;0.0305)	1194					Q7Z7G9|Q96PT5	Splice_Site	SNP	ENST00000356956.1	37	c.3582_splice	CCDS5273.1																																																																																				0.488	IGF2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042931.1	NM_000876	Silent	10	22	0	0	0	1	0	10	22					A	160482960	G	A	160482960	5	1	435	1	0	0	0	0	0	0	1	0	7576	1130	39	2	3680	2	IGF2R	6	160482960	Splice_Site	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	829760	160482960	10632107	3414	24339											
SLC22A2	6582	broad.mit.edu	37	chr6	160662547	160662547	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caagccagatgttagtgagcCggtagaccaggaatggcgtg	11	7	15	8	2	0	3	0	1	0	2	0	4	0	4	3	3	2	2	3	3	4	2	rs151282335		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:160662547C>T	ENST00000366953.3	-	9	1718	c.1460G>A	c.(1459-1461)cGg>cAg	p.R487Q	SLC22A2_ENST00000491092.1_5'UTR	NM_003058.3	NP_003049.2	O15244	S22A2_HUMAN	solute carrier family 22 (organic cation transporter), member 2	487					body fluid secretion (GO:0007589)|drug transmembrane transport (GO:0006855)|histamine transport (GO:0051608)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter secretion (GO:0007269)|organic cation transport (GO:0015695)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	choline transmembrane transporter activity (GO:0015220)|organic cation transmembrane transporter activity (GO:0015101)|quaternary ammonium group transmembrane transporter activity (GO:0015651)|steroid binding (GO:0005496)			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(16)|prostate(2)|skin(1)	27		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.28e-17)|BRCA - Breast invasive adenocarcinoma(81;6.29e-06)	Amantadine(DB00915)|Amiloride(DB00594)|Aminohippurate(DB00345)|Chlorphenamine(DB01114)|Choline(DB00122)|Cimetidine(DB00501)|Cisplatin(DB00515)|Cladribine(DB00242)|Cocaine(DB00907)|Cytarabine(DB00987)|Daunorubicin(DB00694)|Desipramine(DB01151)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Diphenhydramine(DB01075)|Disopyramide(DB00280)|Dopamine(DB00988)|Epinephrine(DB00668)|Estradiol(DB00783)|Famotidine(DB00927)|Flurazepam(DB00690)|Guanidine(DB00536)|Histamine Phosphate(DB00667)|Imatinib(DB00619)|Imipramine(DB00458)|Lamivudine(DB00709)|Levofloxacin(DB01137)|Memantine(DB01043)|Metformin(DB00331)|Metoprolol(DB00264)|Nicotine(DB00184)|Norepinephrine(DB00368)|Oxaliplatin(DB00526)|Oxprenolol(DB01580)|Pancuronium(DB01337)|Phenformin(DB00914)|Phenoxybenzamine(DB00925)|Pramipexole(DB00413)|Prazosin(DB00457)|Probenecid(DB01032)|Procainamide(DB01035)|Progesterone(DB00396)|Propranolol(DB00571)|Quinacrine(DB01103)|Quinidine(DB00908)|Quinine(DB00468)|Reserpine(DB00206)|Thiamine(DB00152)|Tubocurarine(DB01199)|Vinblastine(DB00570)|Zidovudine(DB00495)	GTTAGTGAGCCGGTAGACCAG	0.433																																						ENST00000366953.3																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(16)|prostate(2)|skin(1)	27						c.(1459-1461)cGg>cAg		solute carrier family 22 (organic cation transporter), member 2		C	GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	118	96	104		1460	4.6	1	6	dbSNP_134	104	1,8599	1.2+/-3.3	0,1,4299	no	missense	SLC22A2	NM_003058.3	43	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	probably-damaging	487/556	160662547	2,13004	2203	4300	6503	SO:0001583	missense	6582				body fluid secretion|neurotransmitter biosynthetic process|neurotransmitter secretion	integral to plasma membrane|membrane fraction	neurotransmitter transporter activity|organic cation transmembrane transporter activity	g.chr6:160662547C>T	X98333	CCDS5276.1	6q25.3	2013-05-22			ENSG00000112499	ENSG00000112499		"Solute carriers"	10966	protein-coding gene	gene with protein product		602608				9605850	Standard	NM_003058		Approved	OCT2	uc003qtf.3	O15244	OTTHUMG00000015950	ENST00000366953.3:c.1460G>A	6.37:g.160662547C>T	ENSP00000355920:p.Arg487Gln					SLC22A2_ENST00000491092.1_5'UTR	p.R487Q	NM_003058.3	NP_003049.2	O15244	S22A2_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.28e-17)|BRCA - Breast invasive adenocarcinoma(81;6.29e-06)	9	1718	-		Breast(66;0.000776)|Ovarian(120;0.0303)	487					Q5T7Q6|Q6PIQ8|Q8NG62|Q9NQB9	Missense_Mutation	SNP	ENST00000366953.3	37	c.1460G>A	CCDS5276.1	.	.	.	.	.	.	.	.	.	.	C	34	5.307355	0.95629	2.27E-4	1.16E-4	ENSG00000112499	ENST00000366953	T	0.73681	-0.77	4.57	4.57	0.56435	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.061303	0.64402	D	0.000009	D	0.87273	0.6136	M	0.91717	3.235	0.80722	D	1	D	0.69078	0.997	D	0.68353	0.957	D	0.89722	0.3920	10	0.66056	D	0.02	.	17.8911	0.88872	0.0:1.0:0.0:0.0	.	487	O15244	S22A2_HUMAN	Q	487	ENSP00000355920:R487Q	ENSP00000355920:R487Q	R	-	2	0	SLC22A2	160582537	1.000000	0.71417	1.000000	0.80357	0.867000	0.49689	7.499000	0.81566	2.528000	0.85240	0.650000	0.86243	CGG		0.433	SLC22A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042943.1	NM_003058		31	37	0	0	0	1	0	31	37					T	160662547	C	T	160662547	3	4	435	1	0	0	0	0	1	0	0	0	14450	652	23	2	219	2	SLC22A2	6	160662547	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	179587	160662547	10452520	3415	24340											
LPA	4018	broad.mit.edu	37	chr6	160969576	160969576	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggagcgaccacagtcccttCtgtgtctgagcatcgcgtca	8	9	11	13	3	3	1	1	1	2	0	5	3	4	2	2	1	2	1	2	1	0	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:160969576C>A	ENST00000316300.5	-	31	5133	c.5089G>T	c.(5089-5091)Gaa>Taa	p.E1697*	LPA_ENST00000447678.1_Nonsense_Mutation_p.E1697*			P08519	APOA_HUMAN	lipoprotein, Lp(a)	4205	Kringle 15. {ECO:0000255|PROSITE- ProRule:PRU00121}.				blood circulation (GO:0008015)|lipid metabolic process (GO:0006629)|lipid transport (GO:0006869)|lipoprotein metabolic process (GO:0042157)|negative regulation of endopeptidase activity (GO:0010951)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|plasma lipoprotein particle (GO:0034358)	apolipoprotein binding (GO:0034185)|endopeptidase inhibitor activity (GO:0004866)|fibronectin binding (GO:0001968)|heparin binding (GO:0008201)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	ACAGTCCCTTCTGTGTCTGAG	0.537																																						ENST00000447678.1																			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107						c.(5089-5091)Gaa>Taa		lipoprotein, Lp(a)	Aminocaproic Acid(DB00513)						88	94	92					6																	160969576		2202	4300	6502	SO:0001587	stop_gained	4018				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity	g.chr6:160969576C>A	X06290	CCDS43523.1	6q25-q26	2012-10-02			ENSG00000198670	ENSG00000198670			6667	protein-coding gene	gene with protein product		152200		LP		3670400	Standard	NM_005577		Approved		uc003qtl.3	P08519	OTTHUMG00000015956	ENST00000316300.5:c.5089G>T	6.37:g.160969576C>A	ENSP00000321334:p.Glu1697*					LPA_ENST00000316300.5_Nonsense_Mutation_p.E1697*	p.E1697*	NM_005577.2	NP_005568.2	P08519	APOA_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	32	5209	-		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)	4205			Kringle 15.		Q5VTD7|Q9UD88	Nonsense_Mutation	SNP	ENST00000316300.5	37	c.5089G>T	CCDS43523.1	.	.	.	.	.	.	.	.	.	.	c	41	9.005394	0.99033	.	.	ENSG00000198670	ENST00000316300;ENST00000447678	.	.	.	2.37	0.279	0.15677	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06757	T	0.87	.	9.3622	0.38203	0.0:0.5826:0.4174:0.0	.	.	.	.	X	1697	.	ENSP00000321334:E1697X	E	-	1	0	LPA	160889566	0.000000	0.05858	0.000000	0.03702	0.298000	0.27526	-0.788000	0.04614	-0.089000	0.12484	0.205000	0.17691	GAA		0.537	LPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042957.1	NM_005577		31	51	1	0	4.62619e-21	1	5.13336e-21	31	51					A	160969576	C	A	160969576	4	1	435	1	0	0	0	0	0	1	0	0	8903	922	32	5	1069	5	LPA	6	160969576	Nonsense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	307029	160969576	10145491	3416	24341											
LPA	4018	broad.mit.edu	37	chr6	161026156	161026156	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttggcaggttcttcctgtgAcagtaatgaagtatgtgcct	8	14	11	8	0	1	2	0	2	1	0	2	2	2	2	2	2	1	4	2	2	3	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:161026156A>G	ENST00000316300.5	-	18	2911	c.2867T>C	c.(2866-2868)gTc>gCc	p.V956A	LPA_ENST00000447678.1_Missense_Mutation_p.V956A			P08519	APOA_HUMAN	lipoprotein, Lp(a)	3464	Kringle 9. {ECO:0000255|PROSITE- ProRule:PRU00121}.				blood circulation (GO:0008015)|lipid metabolic process (GO:0006629)|lipid transport (GO:0006869)|lipoprotein metabolic process (GO:0042157)|negative regulation of endopeptidase activity (GO:0010951)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|plasma lipoprotein particle (GO:0034358)	apolipoprotein binding (GO:0034185)|endopeptidase inhibitor activity (GO:0004866)|fibronectin binding (GO:0001968)|heparin binding (GO:0008201)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	TCTTCCTGTGACAGTAATGAA	0.463																																						ENST00000447678.1																			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107						c.(2866-2868)gTc>gCc		lipoprotein, Lp(a)	Aminocaproic Acid(DB00513)						337	350	346					6																	161026156		2202	4300	6502	SO:0001583	missense	4018				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity	g.chr6:161026156A>G	X06290	CCDS43523.1	6q25-q26	2012-10-02			ENSG00000198670	ENSG00000198670			6667	protein-coding gene	gene with protein product		152200		LP		3670400	Standard	NM_005577		Approved		uc003qtl.3	P08519	OTTHUMG00000015956	ENST00000316300.5:c.2867T>C	6.37:g.161026156A>G	ENSP00000321334:p.Val956Ala					LPA_ENST00000316300.5_Missense_Mutation_p.V956A	p.V956A	NM_005577.2	NP_005568.2	P08519	APOA_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	19	2987	-		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)	3464			Kringle 9.		Q5VTD7|Q9UD88	Missense_Mutation	SNP	ENST00000316300.5	37	c.2867T>C	CCDS43523.1	.	.	.	.	.	.	.	.	.	.	a	2.376	-0.343321	0.05243	.	.	ENSG00000198670	ENST00000316300;ENST00000447678	T;T	0.65732	-0.17;-0.17	2.16	-1.32	0.09201	Kringle (4);Kringle-like fold (1);	.	.	.	.	T	0.45135	0.1327	L	0.54965	1.715	0.09310	N	1	P	0.45348	0.856	P	0.61592	0.891	T	0.43310	-0.9399	9	0.08599	T	0.76	.	4.5749	0.12228	0.4673:0.0:0.0:0.5327	.	3464	P08519	APOA_HUMAN	A	956	ENSP00000321334:V956A;ENSP00000395608:V956A	ENSP00000321334:V956A	V	-	2	0	LPA	160946146	0.556000	0.26538	0.000000	0.03702	0.047000	0.14425	1.054000	0.30455	0.065000	0.16485	0.155000	0.16302	GTC		0.463	LPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042957.1	NM_005577		13	379	0	0	0	1	0	13	379					G	161026156	A	G	161026156	3	3	435	1	0	0	0	0	1	0	0	0	8903	275	10	4	3343	4	LPA	6	161026156	Missense_Mutation	SNP	A	TCGA-XK-AAIW-01A-11D-A41K-08	56580	161026156	10088911	3417	24342											
PLG	5340	broad.mit.edu	37	chr6	161134081	161134081	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tactgcaggaatccagacaaCgatccgcaggggccctggtg	10	6	13	12	2	0	1	0	0	0	1	2	3	2	2	3	4	3	2	3	4	3	1	rs372617319		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:161134081C>T	ENST00000308192.9	+	5	534	c.471C>T	c.(469-471)aaC>aaT	p.N157N	PLG_ENST00000462918.1_3'UTR	NM_000301.3	NP_000292.1	P00747	PLMN_HUMAN	plasminogen	157	Kringle 1. {ECO:0000255|PROSITE- ProRule:PRU00121}.				blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|fibrinolysis (GO:0042730)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-cell adhesion mediated by cadherin (GO:2000048)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of fibrinolysis (GO:0051918)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of fibrinolysis (GO:0051919)|tissue remodeling (GO:0048771)	blood microparticle (GO:0072562)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	apolipoprotein binding (GO:0034185)|protein domain specific binding (GO:0019904)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)	59				OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06)	Alteplase(DB00009)|Aminocaproic Acid(DB00513)|Anistreplase(DB00029)|Aprotinin(DB06692)|Reteplase(DB00015)|Streptokinase(DB00086)|Tenecteplase(DB00031)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	ATCCAGACAACGATCCGCAGG	0.483													c|||	1	0.000199681	0	0	5008	,	,		18174	0		0	False		,,,				2504	0.001					ENST00000308192.9																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)	59						c.(469-471)aaC>aaT		plasminogen	Aminocaproic Acid(DB00513)|Streptokinase(DB00086)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	T		0,4406		0,0,2203	138	136	137		471	-5.6	0.6	6		137	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	PLG	NM_000301.3		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		157/811	161134081	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	5340				extracellular matrix disassembly|fibrinolysis|negative regulation of cell proliferation|negative regulation of cell-substrate adhesion|negative regulation of fibrinolysis|platelet activation|platelet degranulation|positive regulation of fibrinolysis|proteolysis|tissue remodeling	extracellular space|extrinsic to external side of plasma membrane|platelet alpha granule lumen	apolipoprotein binding|cell surface binding|serine-type endopeptidase activity	g.chr6:161134081C>T	M74220	CCDS5279.1, CCDS55074.1	6q26	2012-10-02			ENSG00000122194	ENSG00000122194			9071	protein-coding gene	gene with protein product		173350					Standard	NM_000301		Approved		uc003qtm.4	P00747	OTTHUMG00000015957	ENST00000308192.9:c.471C>T	6.37:g.161134081C>T						PLG_ENST00000462918.1_3'UTR	p.N157N	NM_000301.3	NP_000292.1	P00747	PLMN_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06)	5	534	+			157			Kringle 1.		Q15146|Q5TEH4|Q6PA00	Silent	SNP	ENST00000308192.9	37	c.471C>T	CCDS5279.1																																																																																				0.483	PLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042959.2	NM_000301		37	62	0	0	0	1	0	37	62					T	161134081	C	T	161134081	2	4	435	1	0	0	0	0	0	0	0	1	12086	535	19	1		1	PLG	6	161134081	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	107925	161134081	9980986	3418	24343											
PLG	5340	broad.mit.edu	37	chr6	161160103	161160103	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gtcctcatcttttctaggtcCccaaggccttcatcctacaa	8	13	5	15	0	4	0	2	0	2	0	7	0	7	0	5	2	1	0	5	2	4	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:161160103C>T	ENST00000308192.9	+	16	1944	c.1881C>T	c.(1879-1881)tcC>tcT	p.S627S		NM_000301.3	NP_000292.1	P00747	PLMN_HUMAN	plasminogen	627	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|fibrinolysis (GO:0042730)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-cell adhesion mediated by cadherin (GO:2000048)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of fibrinolysis (GO:0051918)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of fibrinolysis (GO:0051919)|tissue remodeling (GO:0048771)	blood microparticle (GO:0072562)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	apolipoprotein binding (GO:0034185)|protein domain specific binding (GO:0019904)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)	59				OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06)	Alteplase(DB00009)|Aminocaproic Acid(DB00513)|Anistreplase(DB00029)|Aprotinin(DB06692)|Reteplase(DB00015)|Streptokinase(DB00086)|Tenecteplase(DB00031)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	TTTCTAGGTCCCCAAGGCCTT	0.507																																						ENST00000308192.9																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)	59						c.(1879-1881)tcC>tcT		plasminogen	Aminocaproic Acid(DB00513)|Streptokinase(DB00086)|Tranexamic Acid(DB00302)|Urokinase(DB00013)						158	148	151					6																	161160103		2203	4300	6503	SO:0001819	synonymous_variant	5340				extracellular matrix disassembly|fibrinolysis|negative regulation of cell proliferation|negative regulation of cell-substrate adhesion|negative regulation of fibrinolysis|platelet activation|platelet degranulation|positive regulation of fibrinolysis|proteolysis|tissue remodeling	extracellular space|extrinsic to external side of plasma membrane|platelet alpha granule lumen	apolipoprotein binding|cell surface binding|serine-type endopeptidase activity	g.chr6:161160103C>T	M74220	CCDS5279.1, CCDS55074.1	6q26	2012-10-02			ENSG00000122194	ENSG00000122194			9071	protein-coding gene	gene with protein product		173350					Standard	NM_000301		Approved		uc003qtm.4	P00747	OTTHUMG00000015957	ENST00000308192.9:c.1881C>T	6.37:g.161160103C>T							p.S627S	NM_000301.3	NP_000292.1	P00747	PLMN_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06)	16	1944	+			627			Peptidase S1.		Q15146|Q5TEH4|Q6PA00	Silent	SNP	ENST00000308192.9	37	c.1881C>T	CCDS5279.1																																																																																				0.507	PLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042959.2	NM_000301		7	82	0	0	0	1	0	7	82					T	161160103	C	T	161160103	2	4	435	1	0	0	0	0	0	0	0	1	12086	610	22	3		3	PLG	6	161160103	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	26022	161160103	9954964	3419	24344											
MAP3K4	4216	broad.mit.edu	37	chr6	161470982	161470982	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccttgcaaagggcacgtataGcattggtaaagaacgatcgt	13	9	11	8	3	0	1	0	0	0	1	1	2	0	1	1	2	3	5	1	2	6	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:161470982G>A	ENST00000392142.4	+	3	1826	c.1678G>A	c.(1678-1680)Gca>Aca	p.A560T	MAP3K4_ENST00000366920.2_Missense_Mutation_p.A560T|MAP3K4_ENST00000348824.7_Missense_Mutation_p.A560T|MAP3K4_ENST00000366919.2_Missense_Mutation_p.A560T	NM_005922.2	NP_005913	Q9Y6R4	M3K4_HUMAN	mitogen-activated protein kinase kinase kinase 4	560					activation of MAPKK activity (GO:0000186)|chorionic trophoblast cell differentiation (GO:0060718)|intracellular signal transduction (GO:0035556)|male germ-line sex determination (GO:0019100)|MAPK cascade (GO:0000165)|placenta development (GO:0001890)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of p38MAPK cascade (GO:1900745)|regulation of gene expression (GO:0010468)|response to UV-C (GO:0010225)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|metal ion binding (GO:0046872)			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(28)|ovary(3)|skin(2)|stomach(1)	77		Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771)		OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05)		GGCACGTATAGCATTGGTAAA	0.368																																						ENST00000392142.4																			0				breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(28)|ovary(3)|skin(2)|stomach(1)	77						c.(1678-1680)Gca>Aca		mitogen-activated protein kinase kinase kinase 4							98	101	100					6																	161470982		2203	4300	6503	SO:0001583	missense	4216				activation of MAPKK activity|JNK cascade|positive regulation of JUN kinase activity	perinuclear region of cytoplasm	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding	g.chr6:161470982G>A	AF002715	CCDS34565.1, CCDS34566.1, CCDS75544.1	6q26	2012-10-02			ENSG00000085511	ENSG00000085511		"Mitogen-activated protein kinase cascade / Kinase kinase kinases"	6856	protein-coding gene	gene with protein product		602425		MEKK4		9305639	Standard	XM_005266988		Approved	MTK1, MAPKKK4, KIAA0213	uc003qtn.3	Q9Y6R4	OTTHUMG00000015968	ENST00000392142.4:c.1678G>A	6.37:g.161470982G>A	ENSP00000375986:p.Ala560Thr					MAP3K4_ENST00000366920.2_Missense_Mutation_p.A560T|MAP3K4_ENST00000366919.2_Missense_Mutation_p.A560T|MAP3K4_ENST00000348824.7_Missense_Mutation_p.A560T	p.A560T	NM_005922.2	NP_005913.2	Q9Y6R4	M3K4_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05)	3	1826	+		Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771)	560					A6H8W0|B7ZLD3|B9EG75|Q5VTT8|Q5VTT9|Q92612|Q9H408	Missense_Mutation	SNP	ENST00000392142.4	37	c.1678G>A	CCDS34565.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.141002	0.77775	.	.	ENSG00000085511	ENST00000366919;ENST00000392142;ENST00000540111;ENST00000366920;ENST00000348824	T;T;T;T	0.20332	2.08;2.08;2.08;2.08	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	T	0.28566	0.0707	L	0.38531	1.155	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.01053	-1.1467	10	0.27785	T	0.31	-25.5178	19.5993	0.95554	0.0:0.0:1.0:0.0	.	560;560	Q9Y6R4-2;Q9Y6R4	.;M3K4_HUMAN	T	560	ENSP00000355886:A560T;ENSP00000375986:A560T;ENSP00000355887:A560T;ENSP00000297332:A560T	ENSP00000297332:A560T	A	+	1	0	MAP3K4	161390972	1.000000	0.71417	0.368000	0.25939	0.979000	0.70002	9.441000	0.97557	2.628000	0.89032	0.655000	0.94253	GCA		0.368	MAP3K4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042988.3			5	89	0	0	0	1	0	5	89					A	161470982	G	A	161470982	3	1	435	1	0	0	0	0	1	0	0	0	9252	971	34	3	1688	3	MAP3K4	6	161470982	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	310879	161470982	9644085	3420	24345											
MAP3K4	4216	broad.mit.edu	37	chr6	161505568	161505568	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gctgctgaaatctacaggaaGttttttagaatttggcttac	11	15	9	6	0	1	2	0	1	1	1	1	3	1	3	0	2	3	4	0	2	6	6	rs142735217		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:161505568G>A	ENST00000392142.4	+	7	2439	c.2291G>A	c.(2290-2292)aGt>aAt	p.S764N	MAP3K4_ENST00000366920.2_Missense_Mutation_p.S764N|MAP3K4_ENST00000348824.7_Missense_Mutation_p.S764N|MAP3K4_ENST00000366919.2_Missense_Mutation_p.S764N	NM_005922.2	NP_005913	Q9Y6R4	M3K4_HUMAN	mitogen-activated protein kinase kinase kinase 4	764					activation of MAPKK activity (GO:0000186)|chorionic trophoblast cell differentiation (GO:0060718)|intracellular signal transduction (GO:0035556)|male germ-line sex determination (GO:0019100)|MAPK cascade (GO:0000165)|placenta development (GO:0001890)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of p38MAPK cascade (GO:1900745)|regulation of gene expression (GO:0010468)|response to UV-C (GO:0010225)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|metal ion binding (GO:0046872)			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(28)|ovary(3)|skin(2)|stomach(1)	77		Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771)		OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05)		TCTACAGGAAGTTTTTTAGAA	0.408																																						ENST00000392142.4																			0				breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(28)|ovary(3)|skin(2)|stomach(1)	77						c.(2290-2292)aGt>aAt		mitogen-activated protein kinase kinase kinase 4							145	141	143					6																	161505568		2203	4300	6503	SO:0001583	missense	4216				activation of MAPKK activity|JNK cascade|positive regulation of JUN kinase activity	perinuclear region of cytoplasm	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding	g.chr6:161505568G>A	AF002715	CCDS34565.1, CCDS34566.1, CCDS75544.1	6q26	2012-10-02			ENSG00000085511	ENSG00000085511		"Mitogen-activated protein kinase cascade / Kinase kinase kinases"	6856	protein-coding gene	gene with protein product		602425		MEKK4		9305639	Standard	XM_005266988		Approved	MTK1, MAPKKK4, KIAA0213	uc003qtn.3	Q9Y6R4	OTTHUMG00000015968	ENST00000392142.4:c.2291G>A	6.37:g.161505568G>A	ENSP00000375986:p.Ser764Asn					MAP3K4_ENST00000366920.2_Missense_Mutation_p.S764N|MAP3K4_ENST00000366919.2_Missense_Mutation_p.S764N|MAP3K4_ENST00000348824.7_Missense_Mutation_p.S764N	p.S764N	NM_005922.2	NP_005913.2	Q9Y6R4	M3K4_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05)	7	2439	+		Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771)	764					A6H8W0|B7ZLD3|B9EG75|Q5VTT8|Q5VTT9|Q92612|Q9H408	Missense_Mutation	SNP	ENST00000392142.4	37	c.2291G>A	CCDS34565.1	.	.	.	.	.	.	.	.	.	.	G	14.45	2.537596	0.45176	.	.	ENSG00000085511	ENST00000366919;ENST00000392142;ENST00000540111;ENST00000366920;ENST00000348824	T;T;T;T	0.70399	-0.48;-0.48;-0.48;-0.48	5.88	4.96	0.65561	.	0.320544	0.32987	N	0.005411	T	0.35364	0.0929	L	0.34521	1.04	0.22562	N	0.998986	B;B;B	0.31625	0.332;0.082;0.224	B;B;B	0.29440	0.102;0.069;0.047	T	0.04752	-1.0929	10	0.18276	T	0.48	-19.5131	7.3412	0.26637	0.0822:0.0:0.6589:0.2589	.	764;764;764	F5H538;Q9Y6R4-2;Q9Y6R4	.;.;M3K4_HUMAN	N	764	ENSP00000355886:S764N;ENSP00000375986:S764N;ENSP00000355887:S764N;ENSP00000297332:S764N	ENSP00000297332:S764N	S	+	2	0	MAP3K4	161425558	0.997000	0.39634	0.207000	0.23584	0.917000	0.54804	3.536000	0.53582	2.785000	0.95823	0.650000	0.86243	AGT		0.408	MAP3K4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042988.3			24	49	0	0	0	1	0	24	49					A	161505568	G	A	161505568	3	1	435	1	0	0	0	0	1	0	0	0	9252	1029	36	3	2317	3	MAP3K4	6	161505568	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	34586	161505568	9609499	3421	24346											
AGPAT4	56895	broad.mit.edu	37	chr6	161575257	161575257	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gatcctgctcccacttgcgcGaacagaagaccatctcggtg	9	8	10	14	3	1	2	0	0	1	2	4	4	3	2	3	1	3	1	3	1	2	1	rs141441479		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:161575257G>A	ENST00000320285.4	-	4	646	c.434C>T	c.(433-435)tCg>tTg	p.S145L	AGPAT4_ENST00000366906.5_Missense_Mutation_p.S83L|AGPAT4_ENST00000366911.5_Silent_p.F88F|AGPAT4_ENST00000366908.5_3'UTR|AGPAT4_ENST00000457520.2_Intron	NM_020133.2	NP_064518.1	Q9NRZ5	PLCD_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 4	145					CDP-diacylglycerol biosynthetic process (GO:0016024)|cellular lipid metabolic process (GO:0044255)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidic acid biosynthetic process (GO:0006654)|phospholipid biosynthetic process (GO:0008654)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	1-acylglycerol-3-phosphate O-acyltransferase activity (GO:0003841)			endometrium(1)|large_intestine(10)|lung(10)|ovary(2)|skin(2)	25		Breast(66;0.000289)|Ovarian(120;0.0266)|Prostate(117;0.0285)		OV - Ovarian serous cystadenocarcinoma(65;2.23e-17)|BRCA - Breast invasive adenocarcinoma(81;3.58e-05)		CCACTTGCGCGAACAGAAGAC	0.542																																						ENST00000320285.4																			0				endometrium(1)|large_intestine(10)|lung(10)|ovary(2)|skin(2)	25						c.(433-435)tCg>tTg		1-acylglycerol-3-phosphate O-acyltransferase 4			LEU/SER	0,4406		0,0,2203	137	120	126		434	2.3	1	6	dbSNP_134	126	1,8599	1.2+/-3.3	0,1,4299	no	missense	AGPAT4	NM_020133.2	145	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	145/379	161575257	1,13005	2203	4300	6503	SO:0001583	missense	56895				phospholipid biosynthetic process	integral to membrane	1-acylglycerol-3-phosphate O-acyltransferase activity|protein binding	g.chr6:161575257G>A	AF156776	CCDS5280.1	6q25.3	2013-02-05	2013-02-05		ENSG00000026652	ENSG00000026652	2.3.1.51	"1-acylglycerol-3-phosphate O-acyltransferases"	20885	protein-coding gene	gene with protein product	"lysophosphatidic acid acyltransferase, delta"	614795	"1-acylglycerol-3-phosphate O-acyltransferase 4 (lysophosphatidic acid acyltransferase, delta)"				Standard	XM_005267052		Approved	LPAAT-delta, dJ473J16.2	uc003qtr.1	Q9NRZ5	OTTHUMG00000015966	ENST00000320285.4:c.434C>T	6.37:g.161575257G>A	ENSP00000314036:p.Ser145Leu					AGPAT4_ENST00000366911.5_Silent_p.F88F|AGPAT4_ENST00000457520.2_Intron|AGPAT4_ENST00000366906.5_Missense_Mutation_p.S83L|AGPAT4_ENST00000366908.5_3'UTR	p.S145L	NM_020133.2	NP_064518.1	Q9NRZ5	PLCD_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.23e-17)|BRCA - Breast invasive adenocarcinoma(81;3.58e-05)	4	646	-		Breast(66;0.000289)|Ovarian(120;0.0266)|Prostate(117;0.0285)	145					B4DSF9|Q5TEF0	Missense_Mutation	SNP	ENST00000320285.4	37	c.434C>T	CCDS5280.1	.	.	.	.	.	.	.	.	.	.	G	16.08	3.021949	0.54576	0.0	1.16E-4	ENSG00000026652	ENST00000320285;ENST00000366906	D;D	0.93426	-3.22;-3.22	4.25	2.32	0.28847	Phospholipid/glycerol acyltransferase (2);	0.274574	0.38837	N	0.001551	D	0.87744	0.6254	M	0.77616	2.38	0.80722	D	1	B;B	0.32829	0.386;0.064	B;B	0.25884	0.064;0.039	D	0.85352	0.1102	10	0.66056	D	0.02	-19.0778	12.3961	0.55386	0.0:0.0:0.306:0.694	.	145;145	B4DHC0;Q9NRZ5	.;PLCD_HUMAN	L	145;83	ENSP00000314036:S145L;ENSP00000355873:S83L	ENSP00000314036:S145L	S	-	2	0	AGPAT4	161495247	1.000000	0.71417	0.963000	0.40424	0.955000	0.61496	4.360000	0.59455	0.361000	0.24292	0.651000	0.88453	TCG		0.542	AGPAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042983.1	NM_020133		26	27	0	0	0	1	0	26	27					A	161575257	G	A	161575257	3	1	435	1	0	0	0	0	1	0	0	0	389	1059	37	2	726	2	AGPAT4	6	161575257	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	69689	161575257	9539810	3422	24347											
PARK2	5071	broad.mit.edu	37	chr6	162622177	162622177	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttacctgggtcaaggtgaGcgttgcctgcctgcaggtgc	5	10	14	12	1	1	1	1	1	0	0	1	1	1	1	4	3	6	2	4	3	2	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:162622177G>A	ENST00000366898.1	-	4	622	c.520C>T	c.(520-522)Ctc>Ttc	p.L174F	PARK2_ENST00000366892.1_Missense_Mutation_p.L174F|PARK2_ENST00000366894.1_5'UTR|PARK2_ENST00000366896.1_Intron|PARK2_ENST00000338468.3_Intron|PARK2_ENST00000366897.1_Missense_Mutation_p.L174F	NM_004562.2	NP_004553.2	O60260	PRKN2_HUMAN	parkin RBR E3 ubiquitin protein ligase	174					adult locomotory behavior (GO:0008344)|aggresome assembly (GO:0070842)|cell death (GO:0008219)|cellular protein catabolic process (GO:0044257)|cellular response to dopamine (GO:1903351)|cellular response to manganese ion (GO:0071287)|cellular response to toxic substance (GO:0097237)|cellular response to unfolded protein (GO:0034620)|central nervous system development (GO:0007417)|dopamine metabolic process (GO:0042417)|dopamine uptake involved in synaptic transmission (GO:0051583)|learning (GO:0007612)|mitochondrion degradation (GO:0000422)|negative regulation of actin filament bundle assembly (GO:0032232)|negative regulation of cell death (GO:0060548)|negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902236)|negative regulation of glucokinase activity (GO:0033132)|negative regulation of insulin secretion (GO:0046676)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of neuron death (GO:1901215)|negative regulation of oxidative stress-induced cell death (GO:1903202)|negative regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903377)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|norepinephrine metabolic process (GO:0042415)|positive regulation of DNA binding (GO:0043388)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of mitochondrial fusion (GO:0010636)|positive regulation of proteasomal protein catabolic process (GO:1901800)|positive regulation of protein linear polyubiquitination (GO:1902530)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor-mediated signaling pathway (GO:1903265)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein autoubiquitination (GO:0051865)|protein K27-linked ubiquitination (GO:0044314)|protein K29-linked ubiquitination (GO:0035519)|protein K48-linked ubiquitination (GO:0070936)|protein K6-linked ubiquitination (GO:0085020)|protein K63-linked ubiquitination (GO:0070534)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of autophagy (GO:0010506)|regulation of dopamine secretion (GO:0014059)|regulation of glucose metabolic process (GO:0010906)|regulation of lipid transport (GO:0032368)|regulation of mitochondrion degradation (GO:1903146)|regulation of mitochondrion organization (GO:0010821)|regulation of neurotransmitter secretion (GO:0046928)|regulation of reactive oxygen species metabolic process (GO:2000377)|regulation of synaptic vesicle transport (GO:1902803)|response to endoplasmic reticulum stress (GO:0034976)|startle response (GO:0001964)|synaptic transmission, glutamatergic (GO:0035249)|transcription, DNA-templated (GO:0006351)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|Lewy body (GO:0097413)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|Parkin-FBXW7-Cul1 ubiquitin ligase complex (GO:1990452)|perinuclear region of cytoplasm (GO:0048471)|ubiquitin ligase complex (GO:0000151)	chaperone binding (GO:0051087)|cullin family protein binding (GO:0097602)|F-box domain binding (GO:1990444)|G-protein coupled receptor binding (GO:0001664)|heat shock protein binding (GO:0031072)|Hsp70 protein binding (GO:0030544)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|ligase activity (GO:0016874)|PDZ domain binding (GO:0030165)|protein kinase binding (GO:0019901)|SH3 domain binding (GO:0017124)|ubiquitin binding (GO:0043130)|ubiquitin conjugating enzyme binding (GO:0031624)|ubiquitin protein ligase activity (GO:0061630)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|ubiquitin-specific protease binding (GO:1990381)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	39		all_cancers(1;8.13e-65)|all_epithelial(1;5.77e-64)|Colorectal(1;9.65e-15)|all_lung(1;1.66e-13)|Lung NSC(1;7.54e-11)|Melanoma(1;1.75e-09)|Breast(66;7.81e-05)|Ovarian(120;0.000981)|Prostate(117;0.0288)|Esophageal squamous(34;0.102)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0663)|all cancers(1;1.9e-63)|Epithelial(1;1.5e-59)|Colorectal(1;2.16e-23)|OV - Ovarian serous cystadenocarcinoma(65;3.53e-20)|COAD - Colon adenocarcinoma(1;2.11e-15)|STAD - Stomach adenocarcinoma(1;4.64e-07)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|READ - Rectum adenocarcinoma(1;2.95e-06)|GBM - Glioblastoma multiforme(2;7.23e-06)|Lung(1;0.00163)|KIRC - Kidney renal clear cell carcinoma(4;0.00371)|LUSC - Lung squamous cell carcinoma(1;0.00442)|Kidney(4;0.0046)		GTCAAGGTGAGCGTTGCCTGC	0.463																																						ENST00000366898.1																			0				breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	39						c.(520-522)Ctc>Ttc		parkin RBR E3 ubiquitin protein ligase							116	103	107					6																	162622177		2203	4300	6503	SO:0001583	missense	5071				aggresome assembly|central nervous system development|mitochondrion degradation|negative regulation of actin filament bundle assembly|negative regulation of cell death|negative regulation of protein phosphorylation|negative regulation of release of cytochrome c from mitochondria|neuron death|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein autoubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein monoubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of autophagy|regulation of reactive oxygen species metabolic process	aggresome|cytosol|endoplasmic reticulum|Golgi apparatus|mitochondrion|nucleus|perinuclear region of cytoplasm	chaperone binding|PDZ domain binding|protein kinase binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr6:162622177G>A		CCDS5281.1, CCDS5282.1, CCDS5283.1	6q25.2-q27	2013-10-03	2013-10-03		ENSG00000185345	ENSG00000185345		"Parkinson disease"	8607	protein-coding gene	gene with protein product	"E3 ubiquitin ligase"	602544	"Parkinson disease (autosomal recessive, juvenile) 2, parkin", "parkinson protein 2, E3 ubiquitin protein ligase (parkin)"			9560156, 9570960	Standard	NM_004562		Approved	PDJ, AR-JP, parkin	uc003qtx.4	O60260	OTTHUMG00000015970	ENST00000366898.1:c.520C>T	6.37:g.162622177G>A	ENSP00000355865:p.Leu174Phe					PARK2_ENST00000366892.1_Missense_Mutation_p.L174F|PARK2_ENST00000338468.3_Intron|PARK2_ENST00000366897.1_Missense_Mutation_p.L174F|PARK2_ENST00000366896.1_Intron|PARK2_ENST00000366894.1_5'UTR	p.L174F	NM_004562.2	NP_004553.2	O60260	PRKN2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;0.0663)|all cancers(1;1.9e-63)|Epithelial(1;1.5e-59)|Colorectal(1;2.16e-23)|OV - Ovarian serous cystadenocarcinoma(65;3.53e-20)|COAD - Colon adenocarcinoma(1;2.11e-15)|STAD - Stomach adenocarcinoma(1;4.64e-07)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|READ - Rectum adenocarcinoma(1;2.95e-06)|GBM - Glioblastoma multiforme(2;7.23e-06)|Lung(1;0.00163)|KIRC - Kidney renal clear cell carcinoma(4;0.00371)|LUSC - Lung squamous cell carcinoma(1;0.00442)|Kidney(4;0.0046)	4	622	-		all_cancers(1;8.13e-65)|all_epithelial(1;5.77e-64)|Colorectal(1;9.65e-15)|all_lung(1;1.66e-13)|Lung NSC(1;7.54e-11)|Melanoma(1;1.75e-09)|Breast(66;7.81e-05)|Ovarian(120;0.000981)|Prostate(117;0.0288)|Esophageal squamous(34;0.102)	174					A3FG77|A8K975|D3JZW7|D3K2X0|Q5TFV8|Q5VVX4|Q6Q2I6|Q8NI41|Q8NI43|Q8NI44|Q8WW07	Missense_Mutation	SNP	ENST00000366898.1	37	c.520C>T	CCDS5281.1	.	.	.	.	.	.	.	.	.	.	G	7.607	0.674063	0.14841	.	.	ENSG00000185345	ENST00000366898;ENST00000366897;ENST00000366892;ENST00000366895	D;D;D	0.92048	-2.88;-2.96;-2.92	5.72	5.72	0.89469	.	0.081366	0.50627	D	0.000108	D	0.90728	0.7090	L	0.41906	1.305	0.23930	N	0.99644	D;B;B	0.89917	1.0;0.357;0.357	D;B;B	0.91635	0.999;0.261;0.169	T	0.83170	-0.0094	10	0.14656	T	0.56	.	15.3813	0.74658	0.0:0.0:1.0:0.0	.	174;174;174	O60260-5;Q5VVX4;O60260	.;.;PRKN2_HUMAN	F	174;174;174;95	ENSP00000355865:L174F;ENSP00000355863:L174F;ENSP00000355858:L174F	ENSP00000355858:L174F	L	-	1	0	PARK2	162542167	0.998000	0.40836	0.030000	0.17652	0.519000	0.34347	3.395000	0.52558	2.688000	0.91661	0.643000	0.83706	CTC		0.463	PARK2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042995.1			25	31	0	0	0	1	0	25	31					A	162622177	G	A	162622177	3	1	435	1	0	0	0	0	1	0	0	0	11449	971	34	3	913	3	PARK2	6	162622177	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	1046920	162622177	8492890	3423	24348											
PARK2	5071	broad.mit.edu	37	chr6	162622263	162622263	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctttgcaatacacataaaagCtgttgtagattgatctacct	13	14	6	8	0	1	2	0	1	1	1	1	2	1	2	1	0	4	4	1	0	6	7			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:162622263C>A	ENST00000366898.1	-	4	536	c.434G>T	c.(433-435)aGc>aTc	p.S145I	PARK2_ENST00000366892.1_Missense_Mutation_p.S145I|PARK2_ENST00000366894.1_5'UTR|PARK2_ENST00000366896.1_Intron|PARK2_ENST00000338468.3_Intron|PARK2_ENST00000366897.1_Missense_Mutation_p.S145I	NM_004562.2	NP_004553.2	O60260	PRKN2_HUMAN	parkin RBR E3 ubiquitin protein ligase	145					adult locomotory behavior (GO:0008344)|aggresome assembly (GO:0070842)|cell death (GO:0008219)|cellular protein catabolic process (GO:0044257)|cellular response to dopamine (GO:1903351)|cellular response to manganese ion (GO:0071287)|cellular response to toxic substance (GO:0097237)|cellular response to unfolded protein (GO:0034620)|central nervous system development (GO:0007417)|dopamine metabolic process (GO:0042417)|dopamine uptake involved in synaptic transmission (GO:0051583)|learning (GO:0007612)|mitochondrion degradation (GO:0000422)|negative regulation of actin filament bundle assembly (GO:0032232)|negative regulation of cell death (GO:0060548)|negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902236)|negative regulation of glucokinase activity (GO:0033132)|negative regulation of insulin secretion (GO:0046676)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of neuron death (GO:1901215)|negative regulation of oxidative stress-induced cell death (GO:1903202)|negative regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903377)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|norepinephrine metabolic process (GO:0042415)|positive regulation of DNA binding (GO:0043388)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of mitochondrial fusion (GO:0010636)|positive regulation of proteasomal protein catabolic process (GO:1901800)|positive regulation of protein linear polyubiquitination (GO:1902530)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor-mediated signaling pathway (GO:1903265)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein autoubiquitination (GO:0051865)|protein K27-linked ubiquitination (GO:0044314)|protein K29-linked ubiquitination (GO:0035519)|protein K48-linked ubiquitination (GO:0070936)|protein K6-linked ubiquitination (GO:0085020)|protein K63-linked ubiquitination (GO:0070534)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of autophagy (GO:0010506)|regulation of dopamine secretion (GO:0014059)|regulation of glucose metabolic process (GO:0010906)|regulation of lipid transport (GO:0032368)|regulation of mitochondrion degradation (GO:1903146)|regulation of mitochondrion organization (GO:0010821)|regulation of neurotransmitter secretion (GO:0046928)|regulation of reactive oxygen species metabolic process (GO:2000377)|regulation of synaptic vesicle transport (GO:1902803)|response to endoplasmic reticulum stress (GO:0034976)|startle response (GO:0001964)|synaptic transmission, glutamatergic (GO:0035249)|transcription, DNA-templated (GO:0006351)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|Lewy body (GO:0097413)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|Parkin-FBXW7-Cul1 ubiquitin ligase complex (GO:1990452)|perinuclear region of cytoplasm (GO:0048471)|ubiquitin ligase complex (GO:0000151)	chaperone binding (GO:0051087)|cullin family protein binding (GO:0097602)|F-box domain binding (GO:1990444)|G-protein coupled receptor binding (GO:0001664)|heat shock protein binding (GO:0031072)|Hsp70 protein binding (GO:0030544)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|ligase activity (GO:0016874)|PDZ domain binding (GO:0030165)|protein kinase binding (GO:0019901)|SH3 domain binding (GO:0017124)|ubiquitin binding (GO:0043130)|ubiquitin conjugating enzyme binding (GO:0031624)|ubiquitin protein ligase activity (GO:0061630)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|ubiquitin-specific protease binding (GO:1990381)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	39		all_cancers(1;8.13e-65)|all_epithelial(1;5.77e-64)|Colorectal(1;9.65e-15)|all_lung(1;1.66e-13)|Lung NSC(1;7.54e-11)|Melanoma(1;1.75e-09)|Breast(66;7.81e-05)|Ovarian(120;0.000981)|Prostate(117;0.0288)|Esophageal squamous(34;0.102)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0663)|all cancers(1;1.9e-63)|Epithelial(1;1.5e-59)|Colorectal(1;2.16e-23)|OV - Ovarian serous cystadenocarcinoma(65;3.53e-20)|COAD - Colon adenocarcinoma(1;2.11e-15)|STAD - Stomach adenocarcinoma(1;4.64e-07)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|READ - Rectum adenocarcinoma(1;2.95e-06)|GBM - Glioblastoma multiforme(2;7.23e-06)|Lung(1;0.00163)|KIRC - Kidney renal clear cell carcinoma(4;0.00371)|LUSC - Lung squamous cell carcinoma(1;0.00442)|Kidney(4;0.0046)		CACATAAAAGCTGTTGTAGAT	0.458																																						ENST00000366898.1																			0				breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	39						c.(433-435)aGc>aTc		parkin RBR E3 ubiquitin protein ligase							105	101	103					6																	162622263		2203	4300	6503	SO:0001583	missense	5071				aggresome assembly|central nervous system development|mitochondrion degradation|negative regulation of actin filament bundle assembly|negative regulation of cell death|negative regulation of protein phosphorylation|negative regulation of release of cytochrome c from mitochondria|neuron death|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein autoubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein monoubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of autophagy|regulation of reactive oxygen species metabolic process	aggresome|cytosol|endoplasmic reticulum|Golgi apparatus|mitochondrion|nucleus|perinuclear region of cytoplasm	chaperone binding|PDZ domain binding|protein kinase binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr6:162622263C>A		CCDS5281.1, CCDS5282.1, CCDS5283.1	6q25.2-q27	2013-10-03	2013-10-03		ENSG00000185345	ENSG00000185345		"Parkinson disease"	8607	protein-coding gene	gene with protein product	"E3 ubiquitin ligase"	602544	"Parkinson disease (autosomal recessive, juvenile) 2, parkin", "parkinson protein 2, E3 ubiquitin protein ligase (parkin)"			9560156, 9570960	Standard	NM_004562		Approved	PDJ, AR-JP, parkin	uc003qtx.4	O60260	OTTHUMG00000015970	ENST00000366898.1:c.434G>T	6.37:g.162622263C>A	ENSP00000355865:p.Ser145Ile					PARK2_ENST00000366892.1_Missense_Mutation_p.S145I|PARK2_ENST00000338468.3_Intron|PARK2_ENST00000366897.1_Missense_Mutation_p.S145I|PARK2_ENST00000366896.1_Intron|PARK2_ENST00000366894.1_5'UTR	p.S145I	NM_004562.2	NP_004553.2	O60260	PRKN2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;0.0663)|all cancers(1;1.9e-63)|Epithelial(1;1.5e-59)|Colorectal(1;2.16e-23)|OV - Ovarian serous cystadenocarcinoma(65;3.53e-20)|COAD - Colon adenocarcinoma(1;2.11e-15)|STAD - Stomach adenocarcinoma(1;4.64e-07)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|READ - Rectum adenocarcinoma(1;2.95e-06)|GBM - Glioblastoma multiforme(2;7.23e-06)|Lung(1;0.00163)|KIRC - Kidney renal clear cell carcinoma(4;0.00371)|LUSC - Lung squamous cell carcinoma(1;0.00442)|Kidney(4;0.0046)	4	536	-		all_cancers(1;8.13e-65)|all_epithelial(1;5.77e-64)|Colorectal(1;9.65e-15)|all_lung(1;1.66e-13)|Lung NSC(1;7.54e-11)|Melanoma(1;1.75e-09)|Breast(66;7.81e-05)|Ovarian(120;0.000981)|Prostate(117;0.0288)|Esophageal squamous(34;0.102)	145					A3FG77|A8K975|D3JZW7|D3K2X0|Q5TFV8|Q5VVX4|Q6Q2I6|Q8NI41|Q8NI43|Q8NI44|Q8WW07	Missense_Mutation	SNP	ENST00000366898.1	37	c.434G>T	CCDS5281.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.951930	0.73787	.	.	ENSG00000185345	ENST00000366898;ENST00000366897;ENST00000366892;ENST00000366895	D;D;D	0.92446	-2.89;-3.04;-2.96	5.93	5.93	0.95920	.	0.052130	0.64402	D	0.000001	D	0.95252	0.8460	M	0.74881	2.28	0.37779	D	0.926944	D;D;D	0.89917	1.0;0.992;0.992	D;P;D	0.91635	0.999;0.901;0.919	D	0.95490	0.8568	10	0.66056	D	0.02	.	15.8525	0.78943	0.0:1.0:0.0:0.0	.	145;145;145	O60260-5;Q5VVX4;O60260	.;.;PRKN2_HUMAN	I	145;145;145;66	ENSP00000355865:S145I;ENSP00000355863:S145I;ENSP00000355858:S145I	ENSP00000355858:S145I	S	-	2	0	PARK2	162542253	1.000000	0.71417	1.000000	0.80357	0.933000	0.57130	3.942000	0.56614	2.815000	0.96918	0.643000	0.83706	AGC		0.458	PARK2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042995.1			21	41	1	0	3.08376e-08	1	3.24969e-08	21	41					A	162622263	C	A	162622263	3	1	435	1	0	0	0	0	1	0	0	0	11449	797	28	5	999	5	PARK2	6	162622263	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	86	162622263	8492804	3424	24349											
PARK2	5071	broad.mit.edu	37	chr6	162864373	162864373	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	agtcattcctcagctccttcCctgcgaaaatcacacgcaac	11	9	5	16	2	3	0	3	0	0	0	6	1	6	0	3	0	3	2	3	0	3	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:162864373C>T	ENST00000366898.1	-	2	242	c.140G>A	c.(139-141)gGg>gAg	p.G47E	PARK2_ENST00000366892.1_Missense_Mutation_p.G47E|PARK2_ENST00000366894.1_5'UTR|PARK2_ENST00000366896.1_Missense_Mutation_p.G47E|PARK2_ENST00000338468.3_5'UTR|PARK2_ENST00000366897.1_Missense_Mutation_p.G47E	NM_004562.2	NP_004553.2	O60260	PRKN2_HUMAN	parkin RBR E3 ubiquitin protein ligase	47	Ubiquitin-like. {ECO:0000255|PROSITE- ProRule:PRU00214}.				adult locomotory behavior (GO:0008344)|aggresome assembly (GO:0070842)|cell death (GO:0008219)|cellular protein catabolic process (GO:0044257)|cellular response to dopamine (GO:1903351)|cellular response to manganese ion (GO:0071287)|cellular response to toxic substance (GO:0097237)|cellular response to unfolded protein (GO:0034620)|central nervous system development (GO:0007417)|dopamine metabolic process (GO:0042417)|dopamine uptake involved in synaptic transmission (GO:0051583)|learning (GO:0007612)|mitochondrion degradation (GO:0000422)|negative regulation of actin filament bundle assembly (GO:0032232)|negative regulation of cell death (GO:0060548)|negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902236)|negative regulation of glucokinase activity (GO:0033132)|negative regulation of insulin secretion (GO:0046676)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of neuron death (GO:1901215)|negative regulation of oxidative stress-induced cell death (GO:1903202)|negative regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903377)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|norepinephrine metabolic process (GO:0042415)|positive regulation of DNA binding (GO:0043388)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of mitochondrial fusion (GO:0010636)|positive regulation of proteasomal protein catabolic process (GO:1901800)|positive regulation of protein linear polyubiquitination (GO:1902530)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor-mediated signaling pathway (GO:1903265)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein autoubiquitination (GO:0051865)|protein K27-linked ubiquitination (GO:0044314)|protein K29-linked ubiquitination (GO:0035519)|protein K48-linked ubiquitination (GO:0070936)|protein K6-linked ubiquitination (GO:0085020)|protein K63-linked ubiquitination (GO:0070534)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of autophagy (GO:0010506)|regulation of dopamine secretion (GO:0014059)|regulation of glucose metabolic process (GO:0010906)|regulation of lipid transport (GO:0032368)|regulation of mitochondrion degradation (GO:1903146)|regulation of mitochondrion organization (GO:0010821)|regulation of neurotransmitter secretion (GO:0046928)|regulation of reactive oxygen species metabolic process (GO:2000377)|regulation of synaptic vesicle transport (GO:1902803)|response to endoplasmic reticulum stress (GO:0034976)|startle response (GO:0001964)|synaptic transmission, glutamatergic (GO:0035249)|transcription, DNA-templated (GO:0006351)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|Lewy body (GO:0097413)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|Parkin-FBXW7-Cul1 ubiquitin ligase complex (GO:1990452)|perinuclear region of cytoplasm (GO:0048471)|ubiquitin ligase complex (GO:0000151)	chaperone binding (GO:0051087)|cullin family protein binding (GO:0097602)|F-box domain binding (GO:1990444)|G-protein coupled receptor binding (GO:0001664)|heat shock protein binding (GO:0031072)|Hsp70 protein binding (GO:0030544)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|ligase activity (GO:0016874)|PDZ domain binding (GO:0030165)|protein kinase binding (GO:0019901)|SH3 domain binding (GO:0017124)|ubiquitin binding (GO:0043130)|ubiquitin conjugating enzyme binding (GO:0031624)|ubiquitin protein ligase activity (GO:0061630)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|ubiquitin-specific protease binding (GO:1990381)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	39		all_cancers(1;8.13e-65)|all_epithelial(1;5.77e-64)|Colorectal(1;9.65e-15)|all_lung(1;1.66e-13)|Lung NSC(1;7.54e-11)|Melanoma(1;1.75e-09)|Breast(66;7.81e-05)|Ovarian(120;0.000981)|Prostate(117;0.0288)|Esophageal squamous(34;0.102)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0663)|all cancers(1;1.9e-63)|Epithelial(1;1.5e-59)|Colorectal(1;2.16e-23)|OV - Ovarian serous cystadenocarcinoma(65;3.53e-20)|COAD - Colon adenocarcinoma(1;2.11e-15)|STAD - Stomach adenocarcinoma(1;4.64e-07)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|READ - Rectum adenocarcinoma(1;2.95e-06)|GBM - Glioblastoma multiforme(2;7.23e-06)|Lung(1;0.00163)|KIRC - Kidney renal clear cell carcinoma(4;0.00371)|LUSC - Lung squamous cell carcinoma(1;0.00442)|Kidney(4;0.0046)		CAGCTCCTTCCCTGCGAAAAT	0.597																																						ENST00000366898.1																			0				breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	39						c.(139-141)gGg>gAg		parkin RBR E3 ubiquitin protein ligase							142	121	128					6																	162864373		2203	4300	6503	SO:0001583	missense	5071				aggresome assembly|central nervous system development|mitochondrion degradation|negative regulation of actin filament bundle assembly|negative regulation of cell death|negative regulation of protein phosphorylation|negative regulation of release of cytochrome c from mitochondria|neuron death|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein autoubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein monoubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of autophagy|regulation of reactive oxygen species metabolic process	aggresome|cytosol|endoplasmic reticulum|Golgi apparatus|mitochondrion|nucleus|perinuclear region of cytoplasm	chaperone binding|PDZ domain binding|protein kinase binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr6:162864373C>T		CCDS5281.1, CCDS5282.1, CCDS5283.1	6q25.2-q27	2013-10-03	2013-10-03		ENSG00000185345	ENSG00000185345		"Parkinson disease"	8607	protein-coding gene	gene with protein product	"E3 ubiquitin ligase"	602544	"Parkinson disease (autosomal recessive, juvenile) 2, parkin", "parkinson protein 2, E3 ubiquitin protein ligase (parkin)"			9560156, 9570960	Standard	NM_004562		Approved	PDJ, AR-JP, parkin	uc003qtx.4	O60260	OTTHUMG00000015970	ENST00000366898.1:c.140G>A	6.37:g.162864373C>T	ENSP00000355865:p.Gly47Glu					PARK2_ENST00000366892.1_Missense_Mutation_p.G47E|PARK2_ENST00000338468.3_5'UTR|PARK2_ENST00000366897.1_Missense_Mutation_p.G47E|PARK2_ENST00000366896.1_Missense_Mutation_p.G47E|PARK2_ENST00000366894.1_5'UTR	p.G47E	NM_004562.2	NP_004553.2	O60260	PRKN2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;0.0663)|all cancers(1;1.9e-63)|Epithelial(1;1.5e-59)|Colorectal(1;2.16e-23)|OV - Ovarian serous cystadenocarcinoma(65;3.53e-20)|COAD - Colon adenocarcinoma(1;2.11e-15)|STAD - Stomach adenocarcinoma(1;4.64e-07)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|READ - Rectum adenocarcinoma(1;2.95e-06)|GBM - Glioblastoma multiforme(2;7.23e-06)|Lung(1;0.00163)|KIRC - Kidney renal clear cell carcinoma(4;0.00371)|LUSC - Lung squamous cell carcinoma(1;0.00442)|Kidney(4;0.0046)	2	242	-		all_cancers(1;8.13e-65)|all_epithelial(1;5.77e-64)|Colorectal(1;9.65e-15)|all_lung(1;1.66e-13)|Lung NSC(1;7.54e-11)|Melanoma(1;1.75e-09)|Breast(66;7.81e-05)|Ovarian(120;0.000981)|Prostate(117;0.0288)|Esophageal squamous(34;0.102)	47			Ubiquitin-like.		A3FG77|A8K975|D3JZW7|D3K2X0|Q5TFV8|Q5VVX4|Q6Q2I6|Q8NI41|Q8NI43|Q8NI44|Q8WW07	Missense_Mutation	SNP	ENST00000366898.1	37	c.140G>A	CCDS5281.1	.	.	.	.	.	.	.	.	.	.	C	25.8	4.670891	0.88348	.	.	ENSG00000185345	ENST00000366898;ENST00000366897;ENST00000366896;ENST00000366892;ENST00000542682	D;D;D;D	0.94092	-3.35;-3.35;-3.35;-3.35	5.63	5.63	0.86233	Ubiquitin supergroup (1);Ubiquitin (2);	0.000000	0.85682	D	0.000000	D	0.97848	0.9293	H	0.94964	3.605	0.54753	D	0.999987	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;0.999;1.0;1.0	D	0.98256	1.0496	10	0.87932	D	0	.	20.0401	0.97581	0.0:1.0:0.0:0.0	.	47;47;47;47	O60260-5;Q5VVX3;Q5VVX4;O60260	.;.;.;PRKN2_HUMAN	E	47;47;47;47;46	ENSP00000355865:G47E;ENSP00000355863:G47E;ENSP00000355862:G47E;ENSP00000355858:G47E	ENSP00000355858:G47E	G	-	2	0	PARK2	162784363	1.000000	0.71417	0.970000	0.41538	0.996000	0.88848	6.062000	0.71155	2.805000	0.96524	0.655000	0.94253	GGG		0.597	PARK2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042995.1			11	49	0	0	0	1	0	11	49					T	162864373	C	T	162864373	3	4	435	1	0	0	0	0	1	0	0	0	11449	623	22	3	1301	3	PARK2	6	162864373	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	242110	162864373	8250694	3425	24350											
PACRG	135138	broad.mit.edu	37	chr6	163235234	163235234	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aagaccaaccaagcccacagCatttcgaaaattctatgagc	16	7	6	12	1	1	2	0	1	1	1	2	3	1	2	3	0	4	1	3	0	6	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:163235234C>T	ENST00000337019.3	+	3	436	c.212C>T	c.(211-213)gCa>gTa	p.A71V	PACRG_ENST00000542669.1_3'UTR|PACRG_ENST00000366889.2_Missense_Mutation_p.A71V|PACRG_ENST00000366888.2_Missense_Mutation_p.A71V	NM_152410.2	NP_689623.2	Q96M98	PACRG_HUMAN	PARK2 co-regulated	71					spermatid development (GO:0007286)	cell body (GO:0044297)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|sperm midpiece (GO:0097225)				endometrium(2)|large_intestine(6)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Breast(66;2.41e-05)|Ovarian(120;0.0245)|Prostate(117;0.0273)|all_neural(5;0.0416)|Glioma(2;0.203)		OV - Ovarian serous cystadenocarcinoma(33;4.31e-19)|GBM - Glioblastoma multiforme(2;7.42e-11)|BRCA - Breast invasive adenocarcinoma(81;3.19e-05)|KIRC - Kidney renal clear cell carcinoma(3;0.205)|Kidney(3;0.242)		AAGCCCACAGCATTTCGAAAA	0.448																																						ENST00000337019.3																			0				endometrium(2)|large_intestine(6)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						c.(211-213)gCa>gTa		PARK2 co-regulated							100	106	104					6																	163235234		2203	4300	6503	SO:0001583	missense	135138							g.chr6:163235234C>T	AK057286	CCDS5284.1, CCDS43524.1	6q26	2004-07-01			ENSG00000112530	ENSG00000112530			19152	protein-coding gene	gene with protein product		608427				12547187	Standard	NM_001080378		Approved	PARK2CRG, FLJ32724, Glup, HAK005771	uc003qua.3	Q96M98	OTTHUMG00000016116	ENST00000337019.3:c.212C>T	6.37:g.163235234C>T	ENSP00000337946:p.Ala71Val					PACRG_ENST00000542669.1_3'UTR|PACRG_ENST00000366889.2_Missense_Mutation_p.A71V|PACRG_ENST00000366888.2_Missense_Mutation_p.A71V	p.A71V	NM_152410.2	NP_689623.2	Q96M98	PACRG_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;4.31e-19)|GBM - Glioblastoma multiforme(2;7.42e-11)|BRCA - Breast invasive adenocarcinoma(81;3.19e-05)|KIRC - Kidney renal clear cell carcinoma(3;0.205)|Kidney(3;0.242)	3	436	+		Breast(66;2.41e-05)|Ovarian(120;0.0245)|Prostate(117;0.0273)|all_neural(5;0.0416)|Glioma(2;0.203)	71					E1P5B5|Q6IMB8|Q8IZM1|Q8NHP5|Q9H1V9	Missense_Mutation	SNP	ENST00000337019.3	37	c.212C>T	CCDS5284.1	.	.	.	.	.	.	.	.	.	.	C	13.86	2.363593	0.41902	.	.	ENSG00000112530	ENST00000337019;ENST00000366889;ENST00000366888	T	0.46063	0.88	5.66	5.66	0.87406	.	0.279502	0.38897	N	0.001525	T	0.20007	0.0481	L	0.31578	0.945	0.21290	N	0.999734	B;B	0.21821	0.016;0.061	B;B	0.22152	0.009;0.038	T	0.04607	-1.0939	10	0.27785	T	0.31	-6.0121	19.7468	0.96255	0.0:1.0:0.0:0.0	.	71;71	Q96M98-2;Q96M98	.;PACRG_HUMAN	V	71	ENSP00000337946:A71V	ENSP00000337946:A71V	A	+	2	0	PACRG	163155224	0.995000	0.38212	0.112000	0.21494	0.995000	0.86356	4.056000	0.57448	2.678000	0.91216	0.563000	0.77884	GCA		0.448	PACRG-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000400424.1	NM_152410		19	105	0	0	0	1	0	19	105					T	163235234	C	T	163235234	3	4	435	1	0	0	0	0	1	0	0	0	11370	710	25	3	218	3	PACRG	6	163235234	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	370861	163235234	7879833	3426	24351											
C6orf118	168090	broad.mit.edu	37	chr6	165711580	165711580	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccccagcgccttgagttgaGccagaagagcctaggcagga	10	5	14	12	1	0	4	0	2	0	2	0	5	0	5	5	2	3	2	5	2	2	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:165711580G>A	ENST00000230301.8	-	5	967	c.947C>T	c.(946-948)gCt>gTt	p.A316V	C6orf118_ENST00000543069.1_Missense_Mutation_p.A212V	NM_144980.3	NP_659417.2	Q5T5N4	CF118_HUMAN	chromosome 6 open reading frame 118	316										breast(1)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40		Breast(66;6.27e-05)|Ovarian(120;0.0228)|Prostate(117;0.0906)|all_neural(5;0.157)		OV - Ovarian serous cystadenocarcinoma(33;3.23e-18)|BRCA - Breast invasive adenocarcinoma(81;3.11e-06)|GBM - Glioblastoma multiforme(31;0.000313)		CTTGAGTTGAGCCAGAAGAGC	0.572																																						ENST00000543069.1																			0				breast(1)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40						c.(634-636)gCt>gTt		chromosome 6 open reading frame 118							53	47	49					6																	165711580		2203	4300	6503	SO:0001583	missense	168090							g.chr6:165711580G>A		CCDS5288.1	6q27	2012-02-06			ENSG00000112539	ENSG00000112539			21233	protein-coding gene	gene with protein product							Standard	NM_144980		Approved	MGC23884, bA85G2.1	uc003qum.4	Q5T5N4	OTTHUMG00000015984	ENST00000230301.8:c.947C>T	6.37:g.165711580G>A	ENSP00000230301:p.Ala316Val					C6orf118_ENST00000230301.8_Missense_Mutation_p.A316V	p.A212V			Q5T5N4	CF118_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;3.23e-18)|BRCA - Breast invasive adenocarcinoma(81;3.11e-06)|GBM - Glioblastoma multiforme(31;0.000313)	5	1216	-		Breast(66;6.27e-05)|Ovarian(120;0.0228)|Prostate(117;0.0906)|all_neural(5;0.157)	316					Q8TC11	Missense_Mutation	SNP	ENST00000230301.8	37	c.635C>T	CCDS5288.1	.	.	.	.	.	.	.	.	.	.	G	11.87	1.766879	0.31320	.	.	ENSG00000112539	ENST00000230301;ENST00000543069	T;T	0.12672	2.66;2.66	4.53	1.64	0.23874	.	0.473988	0.18894	N	0.128234	T	0.04724	0.0128	L	0.41824	1.3	0.09310	N	1	P	0.45531	0.86	P	0.44561	0.453	T	0.30707	-0.9969	10	0.39692	T	0.17	.	7.2428	0.26106	0.0:0.1678:0.4857:0.3465	.	316	Q5T5N4	CF118_HUMAN	V	316;212	ENSP00000230301:A316V;ENSP00000439288:A212V	ENSP00000230301:A316V	A	-	2	0	C6orf118	165631570	0.985000	0.35326	0.006000	0.13384	0.015000	0.08874	2.000000	0.40816	0.212000	0.20703	0.563000	0.77884	GCT		0.572	C6orf118-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043026.1	NM_144980		10	22	0	0	0	1	0	10	22					A	165711580	G	A	165711580	3	1	435	1	0	0	0	0	1	0	0	0	2323	971	34	3	482	3	C6orf118	6	165711580	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	2476346	165711580	5403487	3427	24352											
PDE10A	10846	broad.mit.edu	37	chr6	165749679	165749679	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ggttgtatagcagggaatggCcacggcattgtagaacccaa	12	8	13	8	1	0	1	0	0	0	1	0	2	0	2	2	4	2	5	2	4	6	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:165749679C>T	ENST00000366882.1	-	22	2324	c.2170G>A	c.(2170-2172)Gcc>Acc	p.A724T	PDE10A_ENST00000539869.2_Missense_Mutation_p.A734T|PDE10A_ENST00000354448.4_Missense_Mutation_p.A724T			Q9Y233	PDE10_HUMAN	phosphodiesterase 10A	724					blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cGMP catabolic process (GO:0046069)|regulation of cAMP-mediated signaling (GO:0043949)|regulation of protein kinase A signaling (GO:0010738)|signal transduction (GO:0007165)	cytosol (GO:0005829)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity (GO:0004118)|metal ion binding (GO:0046872)			breast(4)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(39)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	71		Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221)		OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05)	Caffeine(DB00201)|Dipyridamole(DB00975)|Papaverine(DB01113)|Tofisopam(DB08811)|Triflusal(DB08814)	CAGGGAATGGCCACGGCATTG	0.443																																					Esophageal Squamous(22;308 615 5753 12038 40624)	ENST00000366882.1																			0				breast(4)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(39)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	71						c.(2170-2172)Gcc>Acc		phosphodiesterase 10A	Dipyridamole(DB00975)						83	78	79					6																	165749679		2203	4300	6503	SO:0001583	missense	10846				platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cAMP binding|cGMP binding|metal ion binding	g.chr6:165749679C>T	AB020593	CCDS47513.1	6q26	2008-03-18			ENSG00000112541	ENSG00000112541	3.1.4.17	"Phosphodiesterases"	8772	protein-coding gene	gene with protein product		610652				10373451	Standard	NM_001130690		Approved		uc003quo.3	Q9Y233	OTTHUMG00000015986	ENST00000366882.1:c.2170G>A	6.37:g.165749679C>T	ENSP00000355847:p.Ala724Thr					PDE10A_ENST00000539869.2_Missense_Mutation_p.A734T|PDE10A_ENST00000354448.4_Missense_Mutation_p.A724T	p.A724T			Q9Y233	PDE10_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05)	22	2324	-		Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221)	724					Q6FHX1|Q9HCP9|Q9NTV4|Q9ULW9|Q9Y5T1	Missense_Mutation	SNP	ENST00000366882.1	37	c.2170G>A		.	.	.	.	.	.	.	.	.	.	C	36	5.674673	0.96764	.	.	ENSG00000112541	ENST00000366882;ENST00000539869;ENST00000343842;ENST00000354448;ENST00000392126	T;T	0.78364	-1.17;-1.17	5.4	5.4	0.78164	5&apos (2);-cyclic nucleotide phosphodiesterase, catalytic domain (2);3&apos (2);	0.000000	0.85682	D	0.000000	D	0.86335	0.5908	M	0.69523	2.12	0.58432	D	0.999997	D;P	0.71674	0.998;0.75	D;B	0.81914	0.995;0.413	D	0.87069	0.2158	10	0.87932	D	0	.	19.5373	0.95257	0.0:1.0:0.0:0.0	.	734;724	Q9ULW9;Q9Y233	.;PDE10_HUMAN	T	724;752;734;724;723	ENSP00000355847:A724T;ENSP00000346435:A724T	ENSP00000341187:A734T	A	-	1	0	PDE10A	165669669	1.000000	0.71417	0.222000	0.23844	0.860000	0.49131	7.075000	0.76798	2.681000	0.91329	0.655000	0.94253	GCC		0.443	PDE10A-001	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000043031.1			7	23	0	0	0	1	0	7	23					T	165749679	C	T	165749679	3	4	435	1	0	0	0	0	1	0	0	0	11630	739	26	3	177	3	PDE10A	6	165749679	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	38099	165749679	5365388	3428	24353											
PDE10A	10846	broad.mit.edu	37	chr6	165756961	165756961	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtcacagaacaaaggtcacaGgcagtcatcatcaaaccaat	17	6	7	11	0	5	1	5	0	0	1	5	1	5	1	1	2	2	1	1	2	4	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:165756961G>T	ENST00000366882.1	-	20	2140	c.1986C>A	c.(1984-1986)gcC>gcA	p.A662A	PDE10A_ENST00000539869.2_Silent_p.A672A|PDE10A_ENST00000354448.4_Silent_p.A662A			Q9Y233	PDE10_HUMAN	phosphodiesterase 10A	662					blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cGMP catabolic process (GO:0046069)|regulation of cAMP-mediated signaling (GO:0043949)|regulation of protein kinase A signaling (GO:0010738)|signal transduction (GO:0007165)	cytosol (GO:0005829)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity (GO:0004118)|metal ion binding (GO:0046872)			breast(4)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(39)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	71		Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221)		OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05)	Caffeine(DB00201)|Dipyridamole(DB00975)|Papaverine(DB01113)|Tofisopam(DB08811)|Triflusal(DB08814)	AAAGGTCACAGGCAGTCATCA	0.393																																					Esophageal Squamous(22;308 615 5753 12038 40624)	ENST00000366882.1																			0				breast(4)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(39)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	71						c.(1984-1986)gcC>gcA		phosphodiesterase 10A	Dipyridamole(DB00975)						126	116	120					6																	165756961		2203	4300	6503	SO:0001819	synonymous_variant	10846				platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cAMP binding|cGMP binding|metal ion binding	g.chr6:165756961G>T	AB020593	CCDS47513.1	6q26	2008-03-18			ENSG00000112541	ENSG00000112541	3.1.4.17	"Phosphodiesterases"	8772	protein-coding gene	gene with protein product		610652				10373451	Standard	NM_001130690		Approved		uc003quo.3	Q9Y233	OTTHUMG00000015986	ENST00000366882.1:c.1986C>A	6.37:g.165756961G>T						PDE10A_ENST00000539869.2_Silent_p.A672A|PDE10A_ENST00000354448.4_Silent_p.A662A	p.A662A			Q9Y233	PDE10_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05)	20	2140	-		Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221)	662					Q6FHX1|Q9HCP9|Q9NTV4|Q9ULW9|Q9Y5T1	Silent	SNP	ENST00000366882.1	37	c.1986C>A																																																																																					0.393	PDE10A-001	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000043031.1			26	35	1	0	3.65163e-15	1	3.99483e-15	26	35					T	165756961	G	T	165756961	2	4	435	1	0	0	0	0	0	0	0	1	11630	987	35	5		5	PDE10A	6	165756961	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	7282	165756961	5358106	3429	24354											
PDE10A	10846	broad.mit.edu	37	chr6	165801936	165801936	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagacacgcaatcagcagtcCtttgcgctttaaaaaataat	15	10	6	10	2	1	1	1	0	0	1	2	1	2	1	1	0	2	3	1	0	5	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:165801936C>A	ENST00000366882.1	-	18	1787	c.1633G>T	c.(1633-1635)Gga>Tga	p.G545*	PDE10A_ENST00000539869.2_Nonsense_Mutation_p.G555*|PDE10A_ENST00000354448.4_Nonsense_Mutation_p.G545*			Q9Y233	PDE10_HUMAN	phosphodiesterase 10A	545					blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cGMP catabolic process (GO:0046069)|regulation of cAMP-mediated signaling (GO:0043949)|regulation of protein kinase A signaling (GO:0010738)|signal transduction (GO:0007165)	cytosol (GO:0005829)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity (GO:0004118)|metal ion binding (GO:0046872)			breast(4)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(39)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	71		Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221)		OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05)	Caffeine(DB00201)|Dipyridamole(DB00975)|Papaverine(DB01113)|Tofisopam(DB08811)|Triflusal(DB08814)	ATCAGCAGTCCTTTGCGCTTT	0.473																																					Esophageal Squamous(22;308 615 5753 12038 40624)	ENST00000366882.1																			0				breast(4)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(39)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	71						c.(1633-1635)Gga>Tga		phosphodiesterase 10A	Dipyridamole(DB00975)						105	95	99					6																	165801936		2203	4300	6503	SO:0001587	stop_gained	10846				platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cAMP binding|cGMP binding|metal ion binding	g.chr6:165801936C>A	AB020593	CCDS47513.1	6q26	2008-03-18			ENSG00000112541	ENSG00000112541	3.1.4.17	"Phosphodiesterases"	8772	protein-coding gene	gene with protein product		610652				10373451	Standard	NM_001130690		Approved		uc003quo.3	Q9Y233	OTTHUMG00000015986	ENST00000366882.1:c.1633G>T	6.37:g.165801936C>A	ENSP00000355847:p.Gly545*					PDE10A_ENST00000539869.2_Nonsense_Mutation_p.G555*|PDE10A_ENST00000354448.4_Nonsense_Mutation_p.G545*	p.G545*			Q9Y233	PDE10_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05)	18	1787	-		Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221)	545					Q6FHX1|Q9HCP9|Q9NTV4|Q9ULW9|Q9Y5T1	Nonsense_Mutation	SNP	ENST00000366882.1	37	c.1633G>T		.	.	.	.	.	.	.	.	.	.	C	39	7.817417	0.98507	.	.	ENSG00000112541	ENST00000366882;ENST00000539869;ENST00000343842;ENST00000354448;ENST00000392126	.	.	.	5.89	5.89	0.94794	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	20.2562	0.98421	0.0:1.0:0.0:0.0	.	.	.	.	X	545;573;555;545;544	.	ENSP00000341187:G555X	G	-	1	0	PDE10A	165721926	1.000000	0.71417	1.000000	0.80357	0.918000	0.54935	7.207000	0.77899	2.797000	0.96272	0.563000	0.77884	GGA		0.473	PDE10A-001	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000043031.1			33	61	1	0	7.04047e-22	1	7.82589e-22	33	61					A	165801936	C	A	165801936	4	1	435	1	0	0	0	0	0	1	0	0	11630	690	24	5	730	5	PDE10A	6	165801936	Nonsense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	44975	165801936	5313131	3430	24355											
T	6862	broad.mit.edu	37	chr6	166578323	166578323	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggaaagcttttgcaaatggAttgtacttaattttaagagc	14	14	9	4	0	0	1	0	0	0	1	0	3	0	3	0	2	4	3	0	2	5	7			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:166578323A>G	ENST00000296946.2	-	5	1101	c.633T>C	c.(631-633)aaT>aaC	p.N211N	T_ENST00000366871.3_Silent_p.N211N	NM_003181.3	NP_003172.1	O15178	BRAC_HUMAN	T, brachyury homolog (mouse)	211					anterior/posterior axis specification, embryo (GO:0008595)|BMP signaling pathway (GO:0030509)|bone morphogenesis (GO:0060349)|canonical Wnt signaling pathway (GO:0060070)|determination of heart left/right asymmetry (GO:0061371)|embryonic skeletal system development (GO:0048706)|heart morphogenesis (GO:0003007)|mesoderm development (GO:0007498)|mesoderm migration involved in gastrulation (GO:0007509)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural plate morphogenesis (GO:0001839)|neural tube closure (GO:0001843)|notochord formation (GO:0014028)|penetration of zona pellucida (GO:0007341)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003257)|post-anal tail morphogenesis (GO:0036342)|primitive streak formation (GO:0090009)|signal transduction (GO:0007165)|signal transduction involved in regulation of gene expression (GO:0023019)|SMAD protein signal transduction (GO:0060395)|somitogenesis (GO:0001756)|transcription from RNA polymerase II promoter (GO:0006366)|vasculogenesis (GO:0001570)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	39		Prostate(117;4.48e-07)|Ovarian(120;1.78e-06)|Breast(66;2.54e-06)|Lung SC(201;0.0225)|Esophageal squamous(34;0.0559)		OV - Ovarian serous cystadenocarcinoma(33;1.09e-113)|GBM - Glioblastoma multiforme(31;1.51e-108)|BRCA - Breast invasive adenocarcinoma(81;8.45e-09)|LUAD - Lung adenocarcinoma(999;0.0407)		TTGCAAATGGATTGTACTTAA	0.343									Chordoma, Familial Clustering of																													ENST00000296946.2																			0				autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	39						c.(631-633)aaT>aaC		T, brachyury homolog (mouse)							54	59	57					6																	166578323		2203	4297	6500	SO:0001819	synonymous_variant	6862	Chordoma, Familial Clustering of	Familial Cancer Database		anterior/posterior axis specification, embryo|mesoderm development|primitive streak formation	nucleus	sequence-specific DNA binding transcription factor activity	g.chr6:166578323A>G	AJ001699	CCDS5290.1, CCDS59045.1	6q27	2011-06-13	2001-11-28		ENSG00000164458	ENSG00000164458		"T-boxes"	11515	protein-coding gene	gene with protein product		601397	"T brachyury (mouse) homolog"			8963900	Standard	NM_003181		Approved		uc003quu.2	O15178	OTTHUMG00000015991	ENST00000296946.2:c.633T>C	6.37:g.166578323A>G						T_ENST00000366871.3_Silent_p.N211N	p.N211N	NM_003181.3	NP_003172.1	O15178	BRAC_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;1.09e-113)|GBM - Glioblastoma multiforme(31;1.51e-108)|BRCA - Breast invasive adenocarcinoma(81;8.45e-09)|LUAD - Lung adenocarcinoma(999;0.0407)	5	1101	-		Prostate(117;4.48e-07)|Ovarian(120;1.78e-06)|Breast(66;2.54e-06)|Lung SC(201;0.0225)|Esophageal squamous(34;0.0559)	211					E7ERD6|Q4KMP4	Silent	SNP	ENST00000296946.2	37	c.633T>C	CCDS5290.1																																																																																				0.343	T-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043037.2	NM_003181		25	55	0	0	0	1	0	25	55					G	166578323	A	G	166578323	2	3	435	1	0	0	0	0	0	0	0	1	15485	330	12	4		4	T	6	166578323	Silent	SNP	A	TCGA-XK-AAIW-01A-11D-A41K-08	776387	166578323	4536744	3431	24356											
BRP44L	51660	broad.mit.edu	37	chr6	166780295	166780295	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attcttaccaaatgtcatccGcccactgataatctctggag	11	12	6	12	1	3	1	1	1	2	0	5	2	4	2	3	1	1	0	3	1	3	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:166780295G>A	ENST00000360961.6	-	3	281	c.160C>T	c.(160-162)Cgg>Tgg	p.R54W	MPC1_ENST00000487218.1_5'UTR|MPC1_ENST00000341756.6_Missense_Mutation_p.R54W	NM_001270879.1|NM_016098.3	NP_001257808.1|NP_057182.1	Q9Y5U8	MPC1_HUMAN	mitochondrial pyruvate carrier 1	54					cellular metabolic process (GO:0044237)|mitochondrial pyruvate transport (GO:0006850)|pyruvate metabolic process (GO:0006090)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	pyruvate transmembrane transporter activity (GO:0050833)										AATGTCATCCGCCCACTGATA	0.433																																						ENST00000360961.6																			0											c.(160-162)Cgg>Tgg		mitochondrial pyruvate carrier 1							133	138	137					6																	166780295		2203	4300	6503	SO:0001583	missense	51660							g.chr6:166780295G>A	AF125101	CCDS5293.1, CCDS75547.1	6q27	2012-08-01	2012-07-30	2012-07-30	ENSG00000060762	ENSG00000060762			21606	protein-coding gene	gene with protein product		614738	"brain protein 44-like"	BRP44L		22628558	Standard	NM_016098		Approved	dJ68L15.3, CGI-129	uc031sra.1	Q9Y5U8	OTTHUMG00000015999	ENST00000360961.6:c.160C>T	6.37:g.166780295G>A	ENSP00000354223:p.Arg54Trp					MPC1_ENST00000487218.1_5'UTR|MPC1_ENST00000341756.6_Missense_Mutation_p.R54W	p.R54W	NM_016098.2	NP_057182.1					3	281	-								B2R5I7|Q5TI66|Q9HB67|Q9UQN4	Missense_Mutation	SNP	ENST00000360961.6	37	c.160C>T	CCDS5293.1	.	.	.	.	.	.	.	.	.	.	G	15.19	2.759396	0.49468	.	.	ENSG00000060762	ENST00000360961;ENST00000341756;ENST00000392123	T;T	0.72942	-0.7;-0.7	5.69	3.68	0.42216	.	0.059473	0.64402	D	0.000003	T	0.62196	0.2408	M	0.83118	2.625	0.58432	D	0.999998	B	0.26845	0.161	B	0.30179	0.112	T	0.69491	-0.5131	10	0.62326	D	0.03	-8.8814	11.6422	0.51240	0.0:0.1264:0.7288:0.1448	.	54	Q9Y5U8	BR44L_HUMAN	W	54;54;11	ENSP00000354223:R54W;ENSP00000340784:R54W	ENSP00000340784:R54W	R	-	1	2	BRP44L	166700285	1.000000	0.71417	0.993000	0.49108	0.977000	0.68977	3.026000	0.49689	1.356000	0.45884	0.655000	0.94253	CGG		0.433	MPC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043052.1	NM_016098		33	60	0	0	0	1	0	33	60					A	166780295	G	A	166780295	3	1	435	1	0	0	0	0	1	0	0	0	1519	1074	38	1	181	1	BRP44L	6	166780295	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	201972	166780295	4334772	3432	24357											
RPS6KA2	6196	broad.mit.edu	37	chr6	166827379	166827379	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcacttgcatcgccgtcaggCgctgatgagggtccacgtgg	6	8	15	12	4	1	2	1	2	0	0	3	2	2	2	2	3	1	3	2	3	0	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:166827379C>T	ENST00000265678.4	-	20	2202	c.1979G>A	c.(1978-1980)cGc>cAc	p.R660H	RPS6KA2_ENST00000510118.1_Missense_Mutation_p.R685H|RPS6KA2_ENST00000509742.1_5'UTR|RPS6KA2_ENST00000481261.2_Missense_Mutation_p.R571H|RPS6KA2_ENST00000405189.3_Missense_Mutation_p.R571H|RPS6KA2_ENST00000503859.1_Missense_Mutation_p.R668H	NM_021135.4	NP_066958.2	Q15349	KS6A2_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 2	660	Protein kinase 2. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|brain renin-angiotensin system (GO:0002035)|cardiac muscle cell apoptotic process (GO:0010659)|cellular response to carbohydrate stimulus (GO:0071322)|heart contraction (GO:0060047)|heart development (GO:0007507)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell proliferation (GO:0008285)|negative regulation of meiosis (GO:0045835)|neurotrophin TRK receptor signaling pathway (GO:0048011)|oocyte maturation (GO:0001556)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic process (GO:0043065)|positive regulation of gene expression (GO:0010628)|regulation of protein processing (GO:0070613)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|synaptic transmission (GO:0007268)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|ribosomal protein S6 kinase activity (GO:0004711)			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45		Breast(66;2.04e-05)|Ovarian(120;0.0652)|Prostate(117;0.105)		OV - Ovarian serous cystadenocarcinoma(33;2.76e-18)|GBM - Glioblastoma multiforme(31;9.94e-06)|BRCA - Breast invasive adenocarcinoma(81;1.36e-05)		CGCCGTCAGGCGCTGATGAGG	0.587																																						ENST00000510118.1																			0				central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45						c.(2053-2055)cGc>cAc		ribosomal protein S6 kinase, 90kDa, polypeptide 2							94	77	82					6																	166827379		2203	4300	6503	SO:0001583	missense	6196				axon guidance|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr6:166827379C>T	L07598	CCDS5294.1, CCDS34570.1	6q27	2011-04-05	2002-08-29		ENSG00000071242	ENSG00000071242			10431	protein-coding gene	gene with protein product		601685	"ribosomal protein S6 kinase, 90kD, polypeptide 2"			8141249	Standard	NM_001006932		Approved	RSK, RSK3, HU-2	uc003qvc.1	Q15349	OTTHUMG00000016007	ENST00000265678.4:c.1979G>A	6.37:g.166827379C>T	ENSP00000265678:p.Arg660His					RPS6KA2_ENST00000481261.2_Missense_Mutation_p.R571H|RPS6KA2_ENST00000405189.3_Missense_Mutation_p.R571H|RPS6KA2_ENST00000509742.1_5'UTR|RPS6KA2_ENST00000503859.1_Missense_Mutation_p.R668H|RPS6KA2_ENST00000265678.4_Missense_Mutation_p.R660H	p.R685H			Q15349	KS6A2_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;2.76e-18)|GBM - Glioblastoma multiforme(31;9.94e-06)|BRCA - Breast invasive adenocarcinoma(81;1.36e-05)	22	2394	-		Breast(66;2.04e-05)|Ovarian(120;0.0652)|Prostate(117;0.105)	660					B3KTK9|Q15419|Q59GJ3|Q5TI68|Q96J38|Q9UJN5	Missense_Mutation	SNP	ENST00000265678.4	37	c.2054G>A	CCDS5294.1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.403445	0.83230	.	.	ENSG00000071242	ENST00000265678;ENST00000510118;ENST00000503859;ENST00000481261;ENST00000405189	T;T;T;T;T	0.80653	-1.4;-1.4;-1.4;-1.4;-1.4	3.74	3.74	0.42951	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.133641	0.51477	D	0.000084	D	0.93409	0.7898	H	0.99090	4.425	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;0.995	D	0.95878	0.8896	10	0.87932	D	0	.	15.1202	0.72438	0.0:1.0:0.0:0.0	.	685;668;660	F2Z2J1;Q15349-3;Q15349	.;.;KS6A2_HUMAN	H	660;685;668;571;571	ENSP00000265678:R660H;ENSP00000422435:R685H;ENSP00000427015:R668H;ENSP00000422484:R571H;ENSP00000386050:R571H	ENSP00000265678:R660H	R	-	2	0	RPS6KA2	166747369	1.000000	0.71417	1.000000	0.80357	0.713000	0.41058	7.062000	0.76706	2.105000	0.64084	0.478000	0.44815	CGC		0.587	RPS6KA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043075.3	NM_021135		12	15	0	0	0	1	0	12	15					T	166827379	C	T	166827379	3	4	435	1	0	0	0	0	1	0	0	0	13651	768	27	1	230	1	RPS6KA2	6	166827379	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	47084	166827379	4287688	3433	24358											
RPS6KA2	6196	broad.mit.edu	37	chr6	166831754	166831754	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtcccagtttcccccagaaaGggcatacttcccactgccga	9	8	8	16	1	0	1	0	0	0	1	3	2	3	1	5	1	2	2	5	1	2	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:166831754G>T	ENST00000265678.4	-	19	2120	c.1897C>A	c.(1897-1899)Ctt>Att	p.L633I	RPS6KA2_ENST00000510118.1_Missense_Mutation_p.L658I|RPS6KA2_ENST00000509742.1_5'UTR|RPS6KA2_ENST00000481261.2_Missense_Mutation_p.L544I|RPS6KA2_ENST00000405189.3_Missense_Mutation_p.L544I|RPS6KA2_ENST00000503859.1_Missense_Mutation_p.L641I	NM_021135.4	NP_066958.2	Q15349	KS6A2_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 2	633	Protein kinase 2. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|brain renin-angiotensin system (GO:0002035)|cardiac muscle cell apoptotic process (GO:0010659)|cellular response to carbohydrate stimulus (GO:0071322)|heart contraction (GO:0060047)|heart development (GO:0007507)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell proliferation (GO:0008285)|negative regulation of meiosis (GO:0045835)|neurotrophin TRK receptor signaling pathway (GO:0048011)|oocyte maturation (GO:0001556)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic process (GO:0043065)|positive regulation of gene expression (GO:0010628)|regulation of protein processing (GO:0070613)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|synaptic transmission (GO:0007268)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|ribosomal protein S6 kinase activity (GO:0004711)			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45		Breast(66;2.04e-05)|Ovarian(120;0.0652)|Prostate(117;0.105)		OV - Ovarian serous cystadenocarcinoma(33;2.76e-18)|GBM - Glioblastoma multiforme(31;9.94e-06)|BRCA - Breast invasive adenocarcinoma(81;1.36e-05)		CCCCCAGAAAGGGCATACTTC	0.453																																						ENST00000510118.1																			0				central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45						c.(1972-1974)Ctt>Att		ribosomal protein S6 kinase, 90kDa, polypeptide 2							89	85	86					6																	166831754		2203	4300	6503	SO:0001583	missense	6196				axon guidance|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr6:166831754G>T	L07598	CCDS5294.1, CCDS34570.1	6q27	2011-04-05	2002-08-29		ENSG00000071242	ENSG00000071242			10431	protein-coding gene	gene with protein product		601685	"ribosomal protein S6 kinase, 90kD, polypeptide 2"			8141249	Standard	NM_001006932		Approved	RSK, RSK3, HU-2	uc003qvc.1	Q15349	OTTHUMG00000016007	ENST00000265678.4:c.1897C>A	6.37:g.166831754G>T	ENSP00000265678:p.Leu633Ile					RPS6KA2_ENST00000481261.2_Missense_Mutation_p.L544I|RPS6KA2_ENST00000405189.3_Missense_Mutation_p.L544I|RPS6KA2_ENST00000509742.1_5'UTR|RPS6KA2_ENST00000503859.1_Missense_Mutation_p.L641I|RPS6KA2_ENST00000265678.4_Missense_Mutation_p.L633I	p.L658I			Q15349	KS6A2_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;2.76e-18)|GBM - Glioblastoma multiforme(31;9.94e-06)|BRCA - Breast invasive adenocarcinoma(81;1.36e-05)	21	2312	-		Breast(66;2.04e-05)|Ovarian(120;0.0652)|Prostate(117;0.105)	633			Protein kinase 2.		B3KTK9|Q15419|Q59GJ3|Q5TI68|Q96J38|Q9UJN5	Missense_Mutation	SNP	ENST00000265678.4	37	c.1972C>A	CCDS5294.1	.	.	.	.	.	.	.	.	.	.	g	15.62	2.886567	0.51908	.	.	ENSG00000071242	ENST00000265678;ENST00000510118;ENST00000503859;ENST00000481261;ENST00000405189	T;T;T;T;T	0.40756	1.02;1.02;1.02;1.02;1.02	4.41	4.41	0.53225	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.173307	0.36703	N	0.002443	T	0.46852	0.1414	L	0.33093	0.98	0.80722	D	1	B;B;P	0.42871	0.042;0.034;0.792	B;B;D	0.70227	0.309;0.206;0.968	T	0.49504	-0.8933	10	0.56958	D	0.05	.	16.2548	0.82510	0.0:0.0:1.0:0.0	.	658;641;633	F2Z2J1;Q15349-3;Q15349	.;.;KS6A2_HUMAN	I	633;658;641;544;544	ENSP00000265678:L633I;ENSP00000422435:L658I;ENSP00000427015:L641I;ENSP00000422484:L544I;ENSP00000386050:L544I	ENSP00000265678:L633I	L	-	1	0	RPS6KA2	166751744	1.000000	0.71417	0.889000	0.34880	0.979000	0.70002	5.902000	0.69869	2.314000	0.78098	0.581000	0.79447	CTT		0.453	RPS6KA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043075.3	NM_021135		36	50	1	0	1.36161e-19	1	1.50697e-19	36	50					T	166831754	G	T	166831754	3	4	435	1	0	0	0	0	1	0	0	0	13651	1000	35	5	316	5	RPS6KA2	6	166831754	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	4375	166831754	4283313	3434	24359											
RPS6KA2	6196	broad.mit.edu	37	chr6	166844001	166844001	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacaggacgtcactggcttcGcgctccgagaagtatctctg	8	9	11	13	4	2	1	1	0	1	1	5	3	3	2	1	2	0	3	1	2	2	2	rs552673241		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:166844001G>A	ENST00000265678.4	-	16	1744	c.1521C>T	c.(1519-1521)cgC>cgT	p.R507R	RPS6KA2_ENST00000510118.1_Silent_p.R532R|RPS6KA2_ENST00000481261.2_Silent_p.R418R|RPS6KA2_ENST00000405189.3_Silent_p.R418R|RPS6KA2_ENST00000503859.1_Silent_p.R515R	NM_021135.4	NP_066958.2	Q15349	KS6A2_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 2	507	Protein kinase 2. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|brain renin-angiotensin system (GO:0002035)|cardiac muscle cell apoptotic process (GO:0010659)|cellular response to carbohydrate stimulus (GO:0071322)|heart contraction (GO:0060047)|heart development (GO:0007507)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell proliferation (GO:0008285)|negative regulation of meiosis (GO:0045835)|neurotrophin TRK receptor signaling pathway (GO:0048011)|oocyte maturation (GO:0001556)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic process (GO:0043065)|positive regulation of gene expression (GO:0010628)|regulation of protein processing (GO:0070613)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|synaptic transmission (GO:0007268)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|ribosomal protein S6 kinase activity (GO:0004711)			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45		Breast(66;2.04e-05)|Ovarian(120;0.0652)|Prostate(117;0.105)		OV - Ovarian serous cystadenocarcinoma(33;2.76e-18)|GBM - Glioblastoma multiforme(31;9.94e-06)|BRCA - Breast invasive adenocarcinoma(81;1.36e-05)		CACTGGCTTCGCGCTCCGAGA	0.597																																						ENST00000510118.1																			0				central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45						c.(1594-1596)cgC>cgT		ribosomal protein S6 kinase, 90kDa, polypeptide 2							140	121	128					6																	166844001		2203	4300	6503	SO:0001819	synonymous_variant	6196				axon guidance|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr6:166844001G>A	L07598	CCDS5294.1, CCDS34570.1	6q27	2011-04-05	2002-08-29		ENSG00000071242	ENSG00000071242			10431	protein-coding gene	gene with protein product		601685	"ribosomal protein S6 kinase, 90kD, polypeptide 2"			8141249	Standard	NM_001006932		Approved	RSK, RSK3, HU-2	uc003qvc.1	Q15349	OTTHUMG00000016007	ENST00000265678.4:c.1521C>T	6.37:g.166844001G>A						RPS6KA2_ENST00000481261.2_Silent_p.R418R|RPS6KA2_ENST00000405189.3_Silent_p.R418R|RPS6KA2_ENST00000503859.1_Silent_p.R515R|RPS6KA2_ENST00000265678.4_Silent_p.R507R	p.R532R			Q15349	KS6A2_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;2.76e-18)|GBM - Glioblastoma multiforme(31;9.94e-06)|BRCA - Breast invasive adenocarcinoma(81;1.36e-05)	18	1936	-		Breast(66;2.04e-05)|Ovarian(120;0.0652)|Prostate(117;0.105)	507			Protein kinase 2.		B3KTK9|Q15419|Q59GJ3|Q5TI68|Q96J38|Q9UJN5	Silent	SNP	ENST00000265678.4	37	c.1596C>T	CCDS5294.1																																																																																				0.597	RPS6KA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043075.3	NM_021135		5	46	0	0	0	1	0	5	46					A	166844001	G	A	166844001	2	1	435	1	0	0	0	0	0	0	0	1	13651	1074	38	1		1	RPS6KA2	6	166844001	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	12247	166844001	4271066	3435	24360											
FGFR1OP	11116	broad.mit.edu	37	chr6	167416734	167416734	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagtttttaaataccaaagaCggtaagatgttcagtttgtt	14	15	8	4	1	1	2	1	0	0	2	1	2	1	2	1	1	1	5	1	1	6	8	rs146065090	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:167416734C>T	ENST00000366847.4	+	3	441	c.210C>T	c.(208-210)gaC>gaT	p.D70D	FGFR1OP_ENST00000349556.4_Splice_Site_p.D70D|RP11-517H2.6_ENST00000609590.1_RNA|FGFR1OP_ENST00000476078.1_3'UTR	NM_007045.2	NP_008976.1	O95684	FR1OP_HUMAN	FGFR1 oncogene partner	70	LisH. {ECO:0000255|PROSITE- ProRule:PRU00126}.				G2/M transition of mitotic cell cycle (GO:0000086)|microtubule anchoring (GO:0034453)|mitotic cell cycle (GO:0000278)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein tyrosine kinase activity (GO:0061099)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)	centrosome (GO:0005813)|cytosol (GO:0005829)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein tyrosine kinase activity (GO:0004713)|protein tyrosine kinase inhibitor activity (GO:0030292)			large_intestine(2)|ovary(1)|stomach(1)	4		Breast(66;1.48e-05)|Ovarian(120;0.0607)		OV - Ovarian serous cystadenocarcinoma(33;1.73e-19)|BRCA - Breast invasive adenocarcinoma(81;5.1e-06)|GBM - Glioblastoma multiforme(31;0.00231)		ATACCAAAGACGGTAAGATGT	0.294			T	FGFR1	"MPD, NHL"																																	ENST00000366847.3				Dom	yes		6	6q27	11116	T	FGFR1 oncogene partner (FOP)			L	FGFR1		"MPD, NHL"		0				large_intestine(2)|ovary(1)|stomach(1)	4						c.e3+1		FGFR1 oncogene partner		C	,	0,4406		0,0,2203	68	75	73		210,210	0.3	1	6	dbSNP_134	73	5,8569	3.0+/-9.4	0,5,4282	yes	coding-synonymous-near-splice,coding-synonymous-near-splice	FGFR1OP	NM_007045.2,NM_194429.1	,	0,5,6485	TT,TC,CC		0.0583,0.0,0.0385	,	70/400,70/380	167416734	5,12975	2203	4287	6490	SO:0001630	splice_region_variant	11116				G2/M transition of mitotic cell cycle|microtubule anchoring|positive regulation of cell growth|positive regulation of cell migration|positive regulation of cell proliferation	centrosome|cytosol|nucleus|perinuclear region of cytoplasm	protein homodimerization activity|protein kinase binding|protein tyrosine kinase inhibitor activity	g.chr6:167416734C>T	Y18046	CCDS5296.1, CCDS5297.1, CCDS75550.1	6q27	2008-02-05			ENSG00000213066	ENSG00000213066			17012	protein-coding gene	gene with protein product		605392				9949182, 10373756	Standard	NM_007045		Approved	FOP	uc003qvj.3	O95684	OTTHUMG00000016011	ENST00000366847.4:c.211+1C>T	6.37:g.167416734C>T						FGFR1OP_ENST00000476078.1_3'UTR|FGFR1OP_ENST00000349556.4_Splice_Site_p.D70_splice	p.D70_splice	NM_007045.2	NP_008976.1	O95684	FR1OP_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;1.73e-19)|BRCA - Breast invasive adenocarcinoma(81;5.1e-06)|GBM - Glioblastoma multiforme(31;0.00231)	3	441	+		Breast(66;1.48e-05)|Ovarian(120;0.0607)	70			LisH.		A8K1D1|B2R705|Q49AI0|Q5R3F6|Q96EW1	Splice_Site	SNP	ENST00000366847.4	37	c.211_splice	CCDS5296.1																																																																																				0.294	FGFR1OP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043099.2	NM_007045	Silent	13	46	0	0	0	1	0	13	46					T	167416734	C	T	167416734	5	4	435	1	0	0	0	0	0	0	1	0	5864	550	19	1	220	1	FGFR1OP	6	167416734	Splice_Site	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	572733	167416734	3698333	3436	24361											
MLLT4	4301	broad.mit.edu	37	chr6	168281192	168281192	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accctaaggattactgcatcGcccgggtaaggaactttatc	11	10	9	11	2	0	0	0	0	0	0	2	2	0	2	2	3	3	2	2	3	5	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:168281192G>A	ENST00000447894.2	+	6	892	c.892G>A	c.(892-894)Gcc>Acc	p.A298T	MLLT4_ENST00000400822.3_Missense_Mutation_p.A297T|MLLT4_ENST00000344191.4_Missense_Mutation_p.A298T|MLLT4_ENST00000366806.2_Missense_Mutation_p.A298T|MLLT4_ENST00000392108.3_Missense_Mutation_p.A298T|MLLT4_ENST00000392112.1_Missense_Mutation_p.A297T|MLLT4_ENST00000351017.4_Missense_Mutation_p.A298T			P55196	AFAD_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4	298	Ras-associating 2. {ECO:0000255|PROSITE- ProRule:PRU00166}.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cell-cell signaling (GO:0007267)|signal transduction (GO:0007165)	apical part of cell (GO:0045177)|cell junction (GO:0030054)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein C-terminus binding (GO:0008022)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65		Breast(66;1.07e-05)|Ovarian(120;0.024)		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)		TTACTGCATCGCCCGGGTAAG	0.383			T	MLL	AL																																	ENST00000366806.2				Dom	yes		6	6q27	4301	T	"myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4 (AF6)"			L	MLL		AL		0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65						c.(892-894)Gcc>Acc		myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4							99	110	106					6																	168281192		2203	4296	6499	SO:0001583	missense	4301				adherens junction organization|cell adhesion|cell junction assembly|cell-cell signaling|signal transduction	adherens junction|cell-cell junction|cytosol|nucleus	protein C-terminus binding	g.chr6:168281192G>A	AB011399	CCDS47517.1, CCDS75553.1	6q27	2008-02-05	2001-11-28		ENSG00000130396	ENSG00000130396			7137	protein-coding gene	gene with protein product		159559	"myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 4"			8242616	Standard	NM_001040000		Approved	AF-6, AF6	uc021zij.1	P55196	OTTHUMG00000016031	ENST00000447894.2:c.892G>A	6.37:g.168281192G>A	ENSP00000404595:p.Ala298Thr					MLLT4_ENST00000344191.4_Missense_Mutation_p.A298T|MLLT4_ENST00000351017.4_Missense_Mutation_p.A298T|MLLT4_ENST00000392112.1_Missense_Mutation_p.A297T|MLLT4_ENST00000447894.2_Missense_Mutation_p.A298T|MLLT4_ENST00000392108.3_Missense_Mutation_p.A298T|MLLT4_ENST00000400822.3_Missense_Mutation_p.A297T	p.A298T			P55196	AFAD_HUMAN		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)	6	1034	+		Breast(66;1.07e-05)|Ovarian(120;0.024)	298			Ras-associating 2.		O75087|O75088|O75089|Q59FP0|Q5TIG6|Q5TIG7|Q9NSN7|Q9NU92	Missense_Mutation	SNP	ENST00000447894.2	37	c.892G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	23.3|23.3	4.404298|4.404298	0.83230|0.83230	.|.	.|.	ENSG00000130396|ENSG00000130396	ENST00000344191;ENST00000351017;ENST00000392108;ENST00000366806;ENST00000392112;ENST00000341575;ENST00000400822;ENST00000447894|ENST00000423229	T;T;T;T;T;T;T|.	0.17370|.	2.28;2.28;2.28;2.28;2.28;2.28;2.28|.	5.16|5.16	5.16|5.16	0.70880|0.70880	.|.	0.057014|.	0.64402|.	D|.	0.000001|.	T|T	0.61261|0.61261	0.2333|0.2333	L|L	0.47716|0.47716	1.5|1.5	0.58432|0.58432	D|D	0.999998|0.999998	D;D;D|.	0.69078|.	0.997;0.965;0.965|.	P;P;P|.	0.59825|.	0.864;0.698;0.637|.	T|T	0.57376|0.57376	-0.7822|-0.7822	10|5	0.54805|.	T|.	0.06|.	-8.2159|-8.2159	18.8279|18.8279	0.92125|0.92125	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	297;298;297|.	P55196-5;P55196-6;P55196-2|.	.;.;.|.	T|H	298;298;298;298;297;298;297;298|11	ENSP00000341118:A298T;ENSP00000252692:A298T;ENSP00000375956:A298T;ENSP00000355771:A298T;ENSP00000375960:A297T;ENSP00000383623:A297T;ENSP00000404595:A298T|.	ENSP00000345834:A298T|.	A|R	+|+	1|2	0|0	MLLT4|MLLT4	168024041|168024041	1.000000|1.000000	0.71417|0.71417	0.914000|0.914000	0.36105|0.36105	0.589000|0.589000	0.36550|0.36550	7.109000|7.109000	0.77062|0.77062	2.651000|2.651000	0.90000|0.90000	0.650000|0.650000	0.86243|0.86243	GCC|CGC		0.383	MLLT4-013	PUTATIVE	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000372077.1	NM_005936		49	82	0	0	0	1	0	49	82					A	168281192	G	A	168281192	3	1	435	1	0	0	0	0	1	0	0	0	9629	1087	38	1	914	1	MLLT4	6	168281192	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	864458	168281192	2833875	3437	24362											
MLLT4	4301	broad.mit.edu	37	chr6	168314939	168314939	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcaagaccgagaccttagtcGgatcacactggatgctcaag	12	7	11	11	2	2	2	2	0	0	2	3	5	2	4	2	2	1	2	2	2	3	1	rs149079362	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:168314939G>A	ENST00000447894.2	+	16	2129	c.2129G>A	c.(2128-2130)cGg>cAg	p.R710Q	MLLT4_ENST00000400822.3_Missense_Mutation_p.R709Q|MLLT4_ENST00000344191.4_Missense_Mutation_p.R710Q|MLLT4_ENST00000366806.2_Missense_Mutation_p.R710Q|MLLT4_ENST00000392108.3_Missense_Mutation_p.R710Q|MLLT4_ENST00000392112.1_Missense_Mutation_p.R694Q|MLLT4_ENST00000351017.4_Missense_Mutation_p.R717Q			P55196	AFAD_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4	710	Dilute. {ECO:0000255|PROSITE- ProRule:PRU00503}.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cell-cell signaling (GO:0007267)|signal transduction (GO:0007165)	apical part of cell (GO:0045177)|cell junction (GO:0030054)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein C-terminus binding (GO:0008022)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65		Breast(66;1.07e-05)|Ovarian(120;0.024)		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)		GACCTTAGTCGGATCACACTG	0.403			T	MLL	AL								G|||	7	0.00139776	0.0038	0	5008	,	,		18059	0		0.002	False		,,,				2504	0					ENST00000366806.2				Dom	yes		6	6q27	4301	T	"myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4 (AF6)"			L	MLL		AL		0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65						c.(2128-2130)cGg>cAg		myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4		G	GLN/ARG,GLN/ARG	3,4403	6.2+/-15.9	0,3,2200	90	84	86		2129,2081	6.1	0.6	6	dbSNP_134	86	8,8592	6.4+/-24.3	0,8,4292	yes	missense,missense	MLLT4	NM_001040000.2,NM_001207008.1	43,43	0,11,6492	AA,AG,GG		0.093,0.0681,0.0846	possibly-damaging,possibly-damaging	710/1652,694/1744	168314939	11,12995	2203	4300	6503	SO:0001583	missense	4301				adherens junction organization|cell adhesion|cell junction assembly|cell-cell signaling|signal transduction	adherens junction|cell-cell junction|cytosol|nucleus	protein C-terminus binding	g.chr6:168314939G>A	AB011399	CCDS47517.1, CCDS75553.1	6q27	2008-02-05	2001-11-28		ENSG00000130396	ENSG00000130396			7137	protein-coding gene	gene with protein product		159559	"myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 4"			8242616	Standard	NM_001040000		Approved	AF-6, AF6	uc021zij.1	P55196	OTTHUMG00000016031	ENST00000447894.2:c.2129G>A	6.37:g.168314939G>A	ENSP00000404595:p.Arg710Gln					MLLT4_ENST00000344191.4_Missense_Mutation_p.R710Q|MLLT4_ENST00000351017.4_Missense_Mutation_p.R717Q|MLLT4_ENST00000392112.1_Missense_Mutation_p.R694Q|MLLT4_ENST00000447894.2_Missense_Mutation_p.R710Q|MLLT4_ENST00000392108.3_Missense_Mutation_p.R710Q|MLLT4_ENST00000400822.3_Missense_Mutation_p.R709Q	p.R710Q			P55196	AFAD_HUMAN		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)	16	2271	+		Breast(66;1.07e-05)|Ovarian(120;0.024)	710			Dilute.		O75087|O75088|O75089|Q59FP0|Q5TIG6|Q5TIG7|Q9NSN7|Q9NU92	Missense_Mutation	SNP	ENST00000447894.2	37	c.2129G>A		4	0.0018315018315018315	2	0.0040650406504065045	0	0.0	0	0.0	2	0.002638522427440633	G	23.1	4.377960	0.82682	6.81E-4	9.3E-4	ENSG00000130396	ENST00000344191;ENST00000351017;ENST00000392108;ENST00000366806;ENST00000392112;ENST00000341575;ENST00000400822;ENST00000447894	T;T;T;T;T;T;T	0.04758	3.77;3.67;3.77;3.76;3.56;3.67;3.66	6.07	6.07	0.98685	Dilute (1);	0.000000	0.85682	D	0.000000	T	0.06416	0.0165	L	0.28115	0.83	0.80722	D	1	P;D;D;P	0.67145	0.771;0.991;0.996;0.85	B;P;P;B	0.62649	0.222;0.905;0.852;0.25	T	0.55566	-0.8121	10	0.16420	T	0.52	-23.6197	20.6525	0.99598	0.0:0.0:1.0:0.0	.	710;709;710;694	P55196;P55196-5;P55196-6;P55196-2	AFAD_HUMAN;.;.;.	Q	710;717;710;710;694;710;709;710	ENSP00000341118:R710Q;ENSP00000252692:R717Q;ENSP00000375956:R710Q;ENSP00000355771:R710Q;ENSP00000375960:R694Q;ENSP00000383623:R709Q;ENSP00000404595:R710Q	ENSP00000345834:R710Q	R	+	2	0	MLLT4	168057788	1.000000	0.71417	0.646000	0.29493	0.991000	0.79684	7.682000	0.84083	2.890000	0.99128	0.585000	0.79938	CGG		0.403	MLLT4-013	PUTATIVE	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000372077.1	NM_005936		15	33	0	0	0	1	0	15	33					A	168314939	G	A	168314939	3	1	435	1	0	0	0	0	1	0	0	0	9629	1116	39	2	2191	2	MLLT4	6	168314939	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	33747	168314939	2800128	3438	24363											
MLLT4	4301	broad.mit.edu	37	chr6	168316027	168316027	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	attactggggtgcgattatcCgtcagcagttgggccatatt	8	13	12	8	2	1	0	1	0	0	0	2	1	2	0	2	3	3	2	2	3	3	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:168316027C>T	ENST00000447894.2	+	18	2458	c.2458C>T	c.(2458-2460)Cgt>Tgt	p.R820C	MLLT4_ENST00000400822.3_Missense_Mutation_p.R819C|MLLT4_ENST00000344191.4_Missense_Mutation_p.R820C|MLLT4_ENST00000366806.2_Missense_Mutation_p.R820C|MLLT4_ENST00000392108.3_Missense_Mutation_p.R820C|MLLT4_ENST00000392112.1_Missense_Mutation_p.R804C|MLLT4_ENST00000351017.4_Missense_Mutation_p.R827C			P55196	AFAD_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4	820	Dilute. {ECO:0000255|PROSITE- ProRule:PRU00503}.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cell-cell signaling (GO:0007267)|signal transduction (GO:0007165)	apical part of cell (GO:0045177)|cell junction (GO:0030054)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein C-terminus binding (GO:0008022)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65		Breast(66;1.07e-05)|Ovarian(120;0.024)		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)		TGCGATTATCCGTCAGCAGTT	0.547			T	MLL	AL																																	ENST00000366806.2				Dom	yes		6	6q27	4301	T	"myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4 (AF6)"			L	MLL		AL		0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65						c.(2458-2460)Cgt>Tgt		myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4							88	75	79					6																	168316027		2203	4300	6503	SO:0001583	missense	4301				adherens junction organization|cell adhesion|cell junction assembly|cell-cell signaling|signal transduction	adherens junction|cell-cell junction|cytosol|nucleus	protein C-terminus binding	g.chr6:168316027C>T	AB011399	CCDS47517.1, CCDS75553.1	6q27	2008-02-05	2001-11-28		ENSG00000130396	ENSG00000130396			7137	protein-coding gene	gene with protein product		159559	"myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 4"			8242616	Standard	NM_001040000		Approved	AF-6, AF6	uc021zij.1	P55196	OTTHUMG00000016031	ENST00000447894.2:c.2458C>T	6.37:g.168316027C>T	ENSP00000404595:p.Arg820Cys					MLLT4_ENST00000344191.4_Missense_Mutation_p.R820C|MLLT4_ENST00000351017.4_Missense_Mutation_p.R827C|MLLT4_ENST00000392112.1_Missense_Mutation_p.R804C|MLLT4_ENST00000447894.2_Missense_Mutation_p.R820C|MLLT4_ENST00000392108.3_Missense_Mutation_p.R820C|MLLT4_ENST00000400822.3_Missense_Mutation_p.R819C	p.R820C			P55196	AFAD_HUMAN		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)	18	2600	+		Breast(66;1.07e-05)|Ovarian(120;0.024)	820			Dilute.		O75087|O75088|O75089|Q59FP0|Q5TIG6|Q5TIG7|Q9NSN7|Q9NU92	Missense_Mutation	SNP	ENST00000447894.2	37	c.2458C>T		.	.	.	.	.	.	.	.	.	.	C	17.23	3.335702	0.60853	.	.	ENSG00000130396	ENST00000344191;ENST00000351017;ENST00000392108;ENST00000366806;ENST00000392112;ENST00000341575;ENST00000400822;ENST00000447894	T;T;T;T;T;T;T	0.06371	3.5;3.39;3.51;3.52;3.31;3.41;3.42	5.9	5.9	0.94986	Dilute (1);Dil domain (1);	0.000000	0.85682	D	0.000000	T	0.22704	0.0548	M	0.83384	2.64	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.99;0.999;0.967;0.978	T	0.00655	-1.1624	10	0.40728	T	0.16	-0.8062	20.2789	0.98501	0.0:1.0:0.0:0.0	.	820;819;820;804	P55196;P55196-5;P55196-6;P55196-2	AFAD_HUMAN;.;.;.	C	820;827;820;820;804;820;819;820	ENSP00000341118:R820C;ENSP00000252692:R827C;ENSP00000375956:R820C;ENSP00000355771:R820C;ENSP00000375960:R804C;ENSP00000383623:R819C;ENSP00000404595:R820C	ENSP00000345834:R820C	R	+	1	0	MLLT4	168058876	1.000000	0.71417	0.998000	0.56505	0.123000	0.20343	5.847000	0.69451	2.788000	0.95919	0.650000	0.86243	CGT		0.547	MLLT4-013	PUTATIVE	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000372077.1	NM_005936		12	16	0	0	0	1	0	12	16					T	168316027	C	T	168316027	3	4	435	1	0	0	0	0	1	0	0	0	9629	652	23	2	2528	2	MLLT4	6	168316027	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	1088	168316027	2799040	3439	24364											
FRMD1	79981	broad.mit.edu	37	chr6	168461456	168461456	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccaccttggctgtcaccacGtgtgctggggtggctgcggc	3	9	15	14	2	1	0	1	0	0	0	1	0	1	0	3	5	2	3	3	5	0	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:168461456G>A	ENST00000283309.6	-	9	1391	c.1327C>T	c.(1327-1329)Cgt>Tgt	p.R443C	FRMD1_ENST00000432403.1_5'UTR|FRMD1_ENST00000537786.1_Missense_Mutation_p.R214C|FRMD1_ENST00000440994.2_Missense_Mutation_p.R375C	NM_024919.3	NP_079195.3	Q8N878	FRMD1_HUMAN	FERM domain containing 1	443						cytoskeleton (GO:0005856)				endometrium(3)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|urinary_tract(1)	19		Breast(66;1.07e-05)|Ovarian(120;0.0728)		Epithelial(4;7.7e-30)|OV - Ovarian serous cystadenocarcinoma(33;5.82e-22)|BRCA - Breast invasive adenocarcinoma(4;1.38e-10)|GBM - Glioblastoma multiforme(31;0.000756)		CTGTCACCACGTGTGCTGGGG	0.667																																					GBM(50;8 1094 9538 34399)|Ovarian(80;676 1857 8675 49015)	ENST00000283309.6																			0				endometrium(3)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|urinary_tract(1)	19						c.(1327-1329)Cgt>Tgt		FERM domain containing 1							37	35	35					6																	168461456		2203	4299	6502	SO:0001583	missense	79981					cytoskeleton	binding	g.chr6:168461456G>A		CCDS5306.1, CCDS47518.1	6q27	2008-10-23			ENSG00000153303	ENSG00000153303			21240	protein-coding gene	gene with protein product							Standard	NM_001122841		Approved	FLJ00181, DKFZp434O0117, FLJ40260, FLJ22615, bA164L23.1	uc003qwo.4	Q8N878	OTTHUMG00000016037	ENST00000283309.6:c.1327C>T	6.37:g.168461456G>A	ENSP00000283309:p.Arg443Cys					FRMD1_ENST00000440994.2_Missense_Mutation_p.R375C|FRMD1_ENST00000537786.1_Missense_Mutation_p.R214C|FRMD1_ENST00000432403.1_5'UTR	p.R443C	NM_024919.3	NP_079195.3	Q8N878	FRMD1_HUMAN		Epithelial(4;7.7e-30)|OV - Ovarian serous cystadenocarcinoma(33;5.82e-22)|BRCA - Breast invasive adenocarcinoma(4;1.38e-10)|GBM - Glioblastoma multiforme(31;0.000756)	9	1391	-		Breast(66;1.07e-05)|Ovarian(120;0.0728)	443					B2RNV8|B3KUM6|Q5SZU7|Q9UFB0	Missense_Mutation	SNP	ENST00000283309.6	37	c.1327C>T	CCDS5306.1	.	.	.	.	.	.	.	.	.	.	G	6.390	0.440082	0.12104	.	.	ENSG00000153303	ENST00000283309;ENST00000440994;ENST00000537786	T;T;T	0.53423	0.62;0.62;0.62	2.36	-1.15	0.09709	.	19.015600	0.01103	N	0.005415	T	0.08044	0.0201	N	0.02011	-0.69	0.09310	N	1	B;B;B;B	0.10296	0.003;0.001;0.002;0.001	B;B;B;B	0.09377	0.002;0.002;0.004;0.002	T	0.17198	-1.0377	10	0.51188	T	0.08	.	7.0588	0.25113	0.2587:0.4396:0.3017:0.0	.	378;443;375;338	B7Z8G9;Q8N878;Q8N878-2;Q5SZU5	.;FRMD1_HUMAN;.;.	C	443;375;214	ENSP00000283309:R443C;ENSP00000414115:R375C;ENSP00000440078:R214C	ENSP00000283309:R443C	R	-	1	0	FRMD1	168204305	0.001000	0.12720	0.000000	0.03702	0.000000	0.00434	1.055000	0.30467	-0.731000	0.04862	-1.786000	0.00637	CGT		0.667	FRMD1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362513.2	NM_024919		9	18	0	0	0	1	0	9	18					A	168461456	G	A	168461456	3	1	435	1	0	0	0	0	1	0	0	0	6049	1145	40	1	334	1	FRMD1	6	168461456	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	145429	168461456	2653611	3440	24365											
THBS2	7058	broad.mit.edu	37	chr6	169626362	169626362	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctctggtcagtgttgtagacGtagggacaattgtctcgttc	7	14	12	8	2	3	1	1	0	2	1	5	2	3	2	0	2	0	4	0	2	3	5	rs369239097		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:169626362G>A	ENST00000366787.3	-	17	2700	c.2451C>T	c.(2449-2451)taC>taT	p.Y817Y	THBS2_ENST00000488355.1_5'Flank|XXyac-YX65C7_A.2_ENST00000444188.1_RNA	NM_003247.2	NP_003238.2	P35442	TSP2_HUMAN	thrombospondin 2	817					cell adhesion (GO:0007155)|negative regulation of angiogenesis (GO:0016525)|positive regulation of synapse assembly (GO:0051965)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|platelet alpha granule (GO:0031091)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)	p.Y817Y(1)		NS(3)|biliary_tract(1)|endometrium(8)|kidney(3)|large_intestine(23)|liver(1)|lung(56)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	111		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)		TGTTGTAGACGTAGGGACAAT	0.502																																					Esophageal Squamous(91;219 1934 18562 44706)	ENST00000366787.3																			1	Substitution - coding silent(1)	p.Y817Y(1)	large_intestine(1)	NS(3)|biliary_tract(1)|endometrium(8)|kidney(3)|large_intestine(23)|liver(1)|lung(56)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	111						c.(2449-2451)taC>taT		thrombospondin 2		G		0,4406		0,0,2203	108	101	103		2451	-4.8	0.6	6		103	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	THBS2	NM_003247.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		817/1173	169626362	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	7058				cell adhesion	extracellular region	calcium ion binding|heparin binding|protein binding|structural molecule activity	g.chr6:169626362G>A		CCDS34574.1	6q27	2008-07-28			ENSG00000186340	ENSG00000186340			11786	protein-coding gene	gene with protein product		188061				18455130	Standard	NM_003247		Approved	TSP2	uc003qwt.3	P35442	OTTHUMG00000045408	ENST00000366787.3:c.2451C>T	6.37:g.169626362G>A						XXyac-YX65C7_A.2_ENST00000444188.1_RNA	p.Y817Y	NM_003247.2	NP_003238.2	P35442	TSP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)	17	2700	-		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)	817					A6H8N1|A7E232|Q5RI52	Silent	SNP	ENST00000366787.3	37	c.2451C>T	CCDS34574.1																																																																																				0.502	THBS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000105439.1	NM_003247		18	33	0	0	0	1	0	18	33					A	169626362	G	A	169626362	2	1	435	1	0	0	0	0	0	0	0	1	15851	1140	40	1		1	THBS2	6	169626362	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	1164906	169626362	1488705	3441	24366											
THBS2	7058	broad.mit.edu	37	chr6	169642042	169642042	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctgtgttctcactgatggCgttgatctcagctgagggca	6	13	12	10	1	3	3	2	3	3	0	5	3	3	3	0	2	1	4	0	2	0	2	rs202062355		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:169642042C>T	ENST00000366787.3	-	6	955	c.706G>A	c.(706-708)Gcc>Acc	p.A236T	XXyac-YX65C7_A.2_ENST00000444188.1_RNA	NM_003247.2	NP_003238.2	P35442	TSP2_HUMAN	thrombospondin 2	236					cell adhesion (GO:0007155)|negative regulation of angiogenesis (GO:0016525)|positive regulation of synapse assembly (GO:0051965)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|platelet alpha granule (GO:0031091)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)			NS(3)|biliary_tract(1)|endometrium(8)|kidney(3)|large_intestine(23)|liver(1)|lung(56)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	111		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)		TCACTGATGGCGTTGATCTCA	0.657																																					Esophageal Squamous(91;219 1934 18562 44706)	ENST00000366787.3																			0				NS(3)|biliary_tract(1)|endometrium(8)|kidney(3)|large_intestine(23)|liver(1)|lung(56)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	111						c.(706-708)Gcc>Acc		thrombospondin 2		C	THR/ALA	0,4406		0,0,2203	43	36	38		706	0.2	0.2	6		38	1,8593	1.2+/-3.3	0,1,4296	yes	missense	THBS2	NM_003247.2	58	0,1,6499	TT,TC,CC		0.0116,0.0,0.0077	benign	236/1173	169642042	1,12999	2203	4297	6500	SO:0001583	missense	7058				cell adhesion	extracellular region	calcium ion binding|heparin binding|protein binding|structural molecule activity	g.chr6:169642042C>T		CCDS34574.1	6q27	2008-07-28			ENSG00000186340	ENSG00000186340			11786	protein-coding gene	gene with protein product		188061				18455130	Standard	NM_003247		Approved	TSP2	uc003qwt.3	P35442	OTTHUMG00000045408	ENST00000366787.3:c.706G>A	6.37:g.169642042C>T	ENSP00000355751:p.Ala236Thr						p.A236T	NM_003247.2	NP_003238.2	P35442	TSP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)	6	955	-		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)	236					A6H8N1|A7E232|Q5RI52	Missense_Mutation	SNP	ENST00000366787.3	37	c.706G>A	CCDS34574.1	.	.	.	.	.	.	.	.	.	.	C	3.674	-0.066926	0.07273	0.0	1.16E-4	ENSG00000186340	ENST00000366787	T	0.80566	-1.39	4.75	0.159	0.14968	.	0.613475	0.13346	N	0.394744	T	0.29914	0.0748	N	0.02802	-0.49	0.20703	N	0.999861	B	0.10296	0.003	B	0.08055	0.003	T	0.37663	-0.9696	10	0.14252	T	0.57	-40.129	7.713	0.28688	0.0:0.3978:0.0:0.6022	.	236	P35442	TSP2_HUMAN	T	236	ENSP00000355751:A236T	ENSP00000355751:A236T	A	-	1	0	THBS2	169383967	0.790000	0.28787	0.222000	0.23844	0.073000	0.16967	1.040000	0.30278	0.087000	0.17167	-0.333000	0.08304	GCC		0.657	THBS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000105439.1	NM_003247		16	20	0	0	0	1	0	16	20					T	169642042	C	T	169642042	3	4	435	1	0	0	0	0	1	0	0	0	15851	768	27	1	2884	1	THBS2	6	169642042	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	15680	169642042	1473025	3442	24367											
PHF10	55274	broad.mit.edu	37	chr6	170105319	170105319	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcttcttcatggtggggttGtccacatataatgcatgttt	7	18	9	7	0	3	0	1	0	2	0	4	0	4	0	1	3	1	3	1	3	2	7			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:170105319G>A	ENST00000339209.4	-	11	1444	c.1321C>T	c.(1321-1323)Caa>Taa	p.Q441*	C6orf120_ENST00000332290.2_3'UTR|PHF10_ENST00000366780.4_Nonsense_Mutation_p.Q439*	NM_018288.3|NM_133325.2	NP_060758.2|NP_579866.2	Q8WUB8	PHF10_HUMAN	PHD finger protein 10	441					nervous system development (GO:0007399)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	npBAF complex (GO:0071564)	zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(2)|liver(3)|lung(4)|prostate(2)|urinary_tract(1)	14		Breast(66;5.08e-05)|Ovarian(120;0.208)		OV - Ovarian serous cystadenocarcinoma(33;1.4e-21)|BRCA - Breast invasive adenocarcinoma(81;1.4e-07)|GBM - Glioblastoma multiforme(31;0.00176)		TGGTGGGGTTGTCCACATATA	0.408																																						ENST00000339209.4																			0				endometrium(2)|large_intestine(2)|liver(3)|lung(4)|prostate(2)|urinary_tract(1)	14						c.(1321-1323)Caa>Taa		PHD finger protein 10							188	157	168					6																	170105319		2203	4300	6503	SO:0001587	stop_gained	55274				nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	npBAF complex	zinc ion binding	g.chr6:170105319G>A	AF338735	CCDS5308.2, CCDS5309.2	6q27	2014-05-13			ENSG00000130024	ENSG00000130024		"Zinc fingers, PHD-type"	18250	protein-coding gene	gene with protein product		613069				11827455	Standard	NM_018288		Approved	FLJ10975, XAP135, BAF45a	uc011egy.2	Q8WUB8	OTTHUMG00000016058	ENST00000339209.4:c.1321C>T	6.37:g.170105319G>A	ENSP00000341805:p.Gln441*					C6orf120_ENST00000332290.2_3'UTR|PHF10_ENST00000366780.4_Nonsense_Mutation_p.Q439*	p.Q441*	NM_018288.3|NM_133325.2	NP_060758.2|NP_579866.2	Q8WUB8	PHF10_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;1.4e-21)|BRCA - Breast invasive adenocarcinoma(81;1.4e-07)|GBM - Glioblastoma multiforme(31;0.00176)	11	1444	-		Breast(66;5.08e-05)|Ovarian(120;0.208)	441					Q2YDA3|Q53HG8|Q9BXD2|Q9NV26	Nonsense_Mutation	SNP	ENST00000339209.4	37	c.1321C>T	CCDS5308.2	.	.	.	.	.	.	.	.	.	.	G	37	6.129540	0.97310	.	.	ENSG00000130024	ENST00000366780;ENST00000339209	.	.	.	5.97	5.97	0.96955	.	0.048522	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.26408	T	0.33	-23.3796	19.4161	0.94700	0.0:0.0:1.0:0.0	.	.	.	.	X	439;441	.	ENSP00000341805:Q441X	Q	-	1	0	PHF10	169847244	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.172000	0.94808	2.837000	0.97791	0.655000	0.94253	CAA		0.408	PHF10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000346732.1	NM_018288		25	28	0	0	0	1	0	25	28					A	170105319	G	A	170105319	4	1	435	1	0	0	0	0	0	1	0	0	11821	1386	48	3	183	3	PHF10	6	170105319	Nonsense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	463277	170105319	1009748	3443	24368											
C6orf70	55780	broad.mit.edu	37	chr6	170169676	170169676	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaaccatcaggagggtccccGcataagagatcatttaagcc	13	7	10	11	1	2	1	2	0	0	1	3	4	3	2	4	2	2	1	4	2	3	3	rs367621676		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:170169676G>A	ENST00000366773.3	+	12	1133	c.1100G>A	c.(1099-1101)cGc>cAc	p.R367H	RP1-266L20.9_ENST00000586101.1_RNA|ERMARD_ENST00000418781.3_Missense_Mutation_p.R367H|ERMARD_ENST00000366772.2_Missense_Mutation_p.R367H|ERMARD_ENST00000392095.4_Missense_Mutation_p.R241H|ERMARD_ENST00000588451.1_Missense_Mutation_p.R231H	NM_001278532.1|NM_018341.1	NP_001265461.1|NP_060811.1	Q5T6L9	EMARD_HUMAN	ER membrane-associated RNA degradation	367					multicellular organismal development (GO:0007275)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)											GAGGGTCCCCGCATAAGAGAT	0.403																																						ENST00000588451.1																			0				breast(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(7)|ovary(1)	20						c.(691-693)cGc>cAc				G	HIS/ARG	1,4405		0,1,2202	52	49	50		1100	5.3	0.9	6		50	0,8600		0,0,4300	no	missense	C6orf70	NM_018341.1	29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	367/679	170169676	1,13005	2203	4300	6503	SO:0001583	missense	0					integral to membrane		g.chr6:170169676G>A	AK002014	CCDS34576.1, CCDS64572.1, CCDS64573.1, CCDS64574.1	6q27	2013-08-28	2013-08-28	2013-08-28	ENSG00000130023	ENSG00000130023			21056	protein-coding gene	gene with protein product		615532	"chromosome 6 open reading frame 70"	C6orf70		23768067	Standard	NM_018341		Approved	FLJ11152, dJ266L20.3	uc003qxg.1	Q5T6L9	OTTHUMG00000016067	ENST00000366773.3:c.1100G>A	6.37:g.170169676G>A	ENSP00000355735:p.Arg367His					C6orf70_ENST00000366772.2_Missense_Mutation_p.R367H|C6orf70_ENST00000418781.3_Missense_Mutation_p.R367H|C6orf70_ENST00000392095.4_Missense_Mutation_p.R241H|C6orf70_ENST00000366773.3_Missense_Mutation_p.R367H	p.R231H			Q5T6L9	CF070_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;1.2e-22)|BRCA - Breast invasive adenocarcinoma(81;1.49e-07)|GBM - Glioblastoma multiforme(31;0.00191)	11	1205	+		Breast(66;5.08e-05)|Ovarian(120;0.208)	367					B4DFH0|F8WAF1|Q3ZCS8|Q5T6L8|Q9NUT5|Q9NVU2	Missense_Mutation	SNP	ENST00000366773.3	37	c.692G>A	CCDS34576.1	.	.	.	.	.	.	.	.	.	.	.	21.1	4.105077	0.77096	2.27E-4	0.0	ENSG00000130023	ENST00000366773;ENST00000366772;ENST00000418781;ENST00000392095;ENST00000366771	T;T	0.69306	-0.39;-0.36	5.34	5.34	0.76211	.	0.000000	0.64402	D	0.000008	T	0.82070	0.4957	M	0.84846	2.72	0.39448	D	0.967353	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.998;0.998	D	0.85092	0.0952	10	0.87932	D	0	.	18.7053	0.91635	0.0:0.0:1.0:0.0	.	367;367;367	Q5T6L9-3;Q5T6L9-2;Q5T6L9	.;.;CF070_HUMAN	H	367;367;367;241;15	ENSP00000355735:R367H;ENSP00000375945:R241H	ENSP00000355733:R15H	R	+	2	0	C6orf70	169911601	0.998000	0.40836	0.933000	0.37362	0.583000	0.36354	5.919000	0.70005	2.524000	0.85096	0.644000	0.83932	CGC		0.403	ERMARD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043238.2	NM_018341		4	35	0	0	0	1	0	4	35					A	170169676	G	A	170169676	3	1	435	1	0	0	0	0	1	0	0	0	2370	1087	38	1	1146	1	C6orf70	6	170169676	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	64357	170169676	945391	3444	24369											
C6orf70	55780	broad.mit.edu	37	chr6	170181436	170181436	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttttacaggtttgtaaagTcgatcttgcagtacacggag	10	15	10	6	2	1	0	0	0	1	0	2	2	1	1	0	2	3	4	0	2	4	7			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:170181436T>C	ENST00000366773.3	+	18	1897	c.1864T>C	c.(1864-1866)Tcg>Ccg	p.S622P	ERMARD_ENST00000418781.3_Missense_Mutation_p.S549P|ERMARD_ENST00000366772.2_Missense_Mutation_p.S575P|ERMARD_ENST00000392095.4_Missense_Mutation_p.S496P|ERMARD_ENST00000588451.1_Missense_Mutation_p.S486P	NM_001278532.1|NM_018341.1	NP_001265461.1|NP_060811.1	Q5T6L9	EMARD_HUMAN	ER membrane-associated RNA degradation	622					multicellular organismal development (GO:0007275)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)											GTTTGTAAAGTCGATCTTGCA	0.313																																						ENST00000588451.1																			0				breast(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(7)|ovary(1)	20						c.(1456-1458)Tcg>Ccg									67	61	63					6																	170181436		2203	4300	6503	SO:0001583	missense	0					integral to membrane		g.chr6:170181436T>C	AK002014	CCDS34576.1, CCDS64572.1, CCDS64573.1, CCDS64574.1	6q27	2013-08-28	2013-08-28	2013-08-28	ENSG00000130023	ENSG00000130023			21056	protein-coding gene	gene with protein product		615532	"chromosome 6 open reading frame 70"	C6orf70		23768067	Standard	NM_018341		Approved	FLJ11152, dJ266L20.3	uc003qxg.1	Q5T6L9	OTTHUMG00000016067	ENST00000366773.3:c.1864T>C	6.37:g.170181436T>C	ENSP00000355735:p.Ser622Pro					C6orf70_ENST00000366772.2_Missense_Mutation_p.S575P|C6orf70_ENST00000418781.3_Missense_Mutation_p.S549P|C6orf70_ENST00000392095.4_Missense_Mutation_p.S496P|C6orf70_ENST00000366773.3_Missense_Mutation_p.S622P	p.S486P			Q5T6L9	CF070_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;1.2e-22)|BRCA - Breast invasive adenocarcinoma(81;1.49e-07)|GBM - Glioblastoma multiforme(31;0.00191)	17	1969	+		Breast(66;5.08e-05)|Ovarian(120;0.208)	622					B4DFH0|F8WAF1|Q3ZCS8|Q5T6L8|Q9NUT5|Q9NVU2	Missense_Mutation	SNP	ENST00000366773.3	37	c.1456T>C	CCDS34576.1	.	.	.	.	.	.	.	.	.	.	T	15.22	2.767416	0.49574	.	.	ENSG00000130023	ENST00000366773;ENST00000366772;ENST00000418781;ENST00000392095;ENST00000366771	T;T	0.50813	0.74;0.73	5.3	2.73	0.32206	.	0.531582	0.16008	N	0.233954	T	0.29914	0.0748	L	0.32530	0.975	0.24157	N	0.995673	D;P;D	0.59767	0.986;0.899;0.966	P;P;P	0.57152	0.814;0.667;0.691	T	0.07751	-1.0756	10	0.46703	T	0.11	.	6.7266	0.23361	0.0:0.0799:0.1524:0.7677	.	575;549;622	Q5T6L9-3;Q5T6L9-2;Q5T6L9	.;.;CF070_HUMAN	P	622;575;549;496;270	ENSP00000355735:S622P;ENSP00000375945:S496P	ENSP00000355733:S270P	S	+	1	0	C6orf70	169923361	0.983000	0.35010	0.153000	0.22517	0.506000	0.33950	2.128000	0.42045	0.261000	0.21753	0.459000	0.35465	TCG		0.313	ERMARD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043238.2	NM_018341		10	29	0	0	0	1	0	10	29					C	170181436	T	C	170181436	3	2	435	1	0	0	0	0	1	0	0	0	2370	1667	58	4	1934	4	C6orf70	6	170181436	Missense_Mutation	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	11760	170181436	933631	3445	24370											
DLL1	28514	broad.mit.edu	37	chr6	170592397	170592397	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggtgtcacgcttgctgtgcGcgtccctgacggcggtgtcg	2	11	16	12	6	1	1	1	1	0	0	3	1	2	1	1	3	2	2	1	3	0	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:170592397G>A	ENST00000366756.3	-	9	2303	c.1970C>T	c.(1969-1971)gCg>gTg	p.A657V		NM_005618.3	NP_005609.3	O00548	DLL1_HUMAN	delta-like 1 (Drosophila)	657					cell differentiation (GO:0030154)|cell fate determination (GO:0001709)|cell-cell signaling (GO:0007267)|compartment pattern specification (GO:0007386)|determination of left/right symmetry (GO:0007368)|heart looping (GO:0001947)|hemopoiesis (GO:0030097)|inner ear development (GO:0048839)|left/right axis specification (GO:0070986)|loop of Henle development (GO:0072070)|negative regulation of auditory receptor cell differentiation (GO:0045608)|negative regulation of interleukin-10 production (GO:0032693)|negative regulation of myeloid cell differentiation (GO:0045638)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proximal tubule development (GO:0072014)|regulation of cell adhesion (GO:0030155)|somite specification (GO:0001757)	cytoplasmic vesicle (GO:0031410)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|Notch binding (GO:0005112)			NS(2)|breast(1)|endometrium(1)|large_intestine(7)|lung(17)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	33		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;6.71e-23)|BRCA - Breast invasive adenocarcinoma(81;4.81e-06)|GBM - Glioblastoma multiforme(31;0.0584)		CTTGCTGTGCGCGTCCCTGAC	0.667																																						ENST00000366756.3																			0				NS(2)|breast(1)|endometrium(1)|large_intestine(7)|lung(17)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	33						c.(1969-1971)gCg>gTg		delta-like 1 (Drosophila)							81	70	74					6																	170592397		2203	4300	6503	SO:0001583	missense	28514				cell communication|cell fate determination|hemopoiesis|Notch receptor processing|Notch signaling pathway|regulation of cell adhesion	extracellular region|integral to plasma membrane	calcium ion binding|Notch binding	g.chr6:170592397G>A	AF003522	CCDS5313.1	6q13-q22.33	2008-07-28	2001-12-03		ENSG00000198719	ENSG00000198719			2908	protein-coding gene	gene with protein product		606582	"delta (Drosophila)-like 1"				Standard	NM_005618		Approved		uc003qxm.3	O00548	OTTHUMG00000016078	ENST00000366756.3:c.1970C>T	6.37:g.170592397G>A	ENSP00000355718:p.Ala657Val						p.A657V	NM_005618.3	NP_005609.3	O00548	DLL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;6.71e-23)|BRCA - Breast invasive adenocarcinoma(81;4.81e-06)|GBM - Glioblastoma multiforme(31;0.0584)	9	2303	-		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)	657					B2RAK7|B5M0B3|Q9NU41|Q9UJV2	Missense_Mutation	SNP	ENST00000366756.3	37	c.1970C>T	CCDS5313.1	.	.	.	.	.	.	.	.	.	.	G	1.928	-0.446737	0.04572	.	.	ENSG00000198719	ENST00000366756	D	0.86097	-2.07	5.11	1.82	0.25136	.	0.749352	0.13055	N	0.417378	T	0.46521	0.1397	N	0.08118	0	0.09310	N	1	B	0.29341	0.242	B	0.15870	0.014	T	0.34229	-0.9837	10	0.33141	T	0.24	.	7.4574	0.27274	0.0884:0.0:0.3525:0.5592	.	657	O00548	DLL1_HUMAN	V	657	ENSP00000355718:A657V	ENSP00000355718:A657V	A	-	2	0	DLL1	170434322	0.072000	0.21174	0.001000	0.08648	0.012000	0.07955	2.494000	0.45329	0.635000	0.30488	-0.137000	0.14449	GCG		0.667	DLL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043254.1			13	19	0	0	0	1	0	13	19					A	170592397	G	A	170592397	3	1	435	1	0	0	0	0	1	0	0	0	4566	1087	38	1	213	1	DLL1	6	170592397	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	410961	170592397	522670	3446	24371											
DLL1	28514	broad.mit.edu	37	chr6	170594658	170594658	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcagggagagaaggcttaccCtggttgcagaaaaggccccc	11	6	13	11	0	1	2	1	0	0	2	1	4	1	3	3	4	2	3	3	4	4	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:170594658C>A	ENST00000366756.3	-	6	1194	c.861G>T	c.(859-861)caG>caT	p.Q287H		NM_005618.3	NP_005609.3	O00548	DLL1_HUMAN	delta-like 1 (Drosophila)	287					cell differentiation (GO:0030154)|cell fate determination (GO:0001709)|cell-cell signaling (GO:0007267)|compartment pattern specification (GO:0007386)|determination of left/right symmetry (GO:0007368)|heart looping (GO:0001947)|hemopoiesis (GO:0030097)|inner ear development (GO:0048839)|left/right axis specification (GO:0070986)|loop of Henle development (GO:0072070)|negative regulation of auditory receptor cell differentiation (GO:0045608)|negative regulation of interleukin-10 production (GO:0032693)|negative regulation of myeloid cell differentiation (GO:0045638)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proximal tubule development (GO:0072014)|regulation of cell adhesion (GO:0030155)|somite specification (GO:0001757)	cytoplasmic vesicle (GO:0031410)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|Notch binding (GO:0005112)			NS(2)|breast(1)|endometrium(1)|large_intestine(7)|lung(17)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	33		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;6.71e-23)|BRCA - Breast invasive adenocarcinoma(81;4.81e-06)|GBM - Glioblastoma multiforme(31;0.0584)		AAGGCTTACCCTGGTTGCAGA	0.577																																						ENST00000366756.3																			0				NS(2)|breast(1)|endometrium(1)|large_intestine(7)|lung(17)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	33						c.e6+1		delta-like 1 (Drosophila)							51	60	57					6																	170594658		2203	4300	6503	SO:0001630	splice_region_variant	28514				cell communication|cell fate determination|hemopoiesis|Notch receptor processing|Notch signaling pathway|regulation of cell adhesion	extracellular region|integral to plasma membrane	calcium ion binding|Notch binding	g.chr6:170594658C>A	AF003522	CCDS5313.1	6q13-q22.33	2008-07-28	2001-12-03		ENSG00000198719	ENSG00000198719			2908	protein-coding gene	gene with protein product		606582	"delta (Drosophila)-like 1"				Standard	NM_005618		Approved		uc003qxm.3	O00548	OTTHUMG00000016078	ENST00000366756.3:c.862+1G>T	6.37:g.170594658C>A							p.Q287_splice	NM_005618.3	NP_005609.3	O00548	DLL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;6.71e-23)|BRCA - Breast invasive adenocarcinoma(81;4.81e-06)|GBM - Glioblastoma multiforme(31;0.0584)	6	1194	-		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)	287					B2RAK7|B5M0B3|Q9NU41|Q9UJV2	Splice_Site	SNP	ENST00000366756.3	37	c.862_splice	CCDS5313.1	.	.	.	.	.	.	.	.	.	.	C	16.42	3.117533	0.56505	.	.	ENSG00000198719	ENST00000366756	T	0.07216	3.21	5.08	0.0374	0.14196	.	0.000000	0.85682	D	0.000000	T	0.06050	0.0157	L	0.52759	1.655	0.58432	D	0.999993	D	0.54397	0.966	P	0.50934	0.654	T	0.18116	-1.0347	10	0.56958	D	0.05	.	10.2575	0.43405	0.0:0.5095:0.0:0.4905	.	287	O00548	DLL1_HUMAN	H	287	ENSP00000355718:Q287H	ENSP00000355718:Q287H	Q	-	3	2	DLL1	170436583	0.847000	0.29606	0.996000	0.52242	0.843000	0.47879	-0.066000	0.11598	-0.051000	0.13334	-0.251000	0.11542	CAG		0.577	DLL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043254.1		Missense_Mutation	16	27	1	0	1.33834e-09	1	1.42249e-09	16	27					A	170594658	C	A	170594658	5	1	435	1	0	0	0	0	0	0	1	0	4566	695	24	5	1334	5	DLL1	6	170594658	Splice_Site	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	2261	170594658	520409	3447	24372											
DLL1	28514	broad.mit.edu	37	chr6	170594702	170594702	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccttcctggcagttgcactGccagggctgctggcaggtgc	4	9	15	13	0	0	0	0	0	0	0	1	0	1	0	3	4	4	6	3	4	0	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:170594702G>A	ENST00000366756.3	-	6	1150	c.817C>T	c.(817-819)Cag>Tag	p.Q273*		NM_005618.3	NP_005609.3	O00548	DLL1_HUMAN	delta-like 1 (Drosophila)	273	EGF-like 2. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cell differentiation (GO:0030154)|cell fate determination (GO:0001709)|cell-cell signaling (GO:0007267)|compartment pattern specification (GO:0007386)|determination of left/right symmetry (GO:0007368)|heart looping (GO:0001947)|hemopoiesis (GO:0030097)|inner ear development (GO:0048839)|left/right axis specification (GO:0070986)|loop of Henle development (GO:0072070)|negative regulation of auditory receptor cell differentiation (GO:0045608)|negative regulation of interleukin-10 production (GO:0032693)|negative regulation of myeloid cell differentiation (GO:0045638)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proximal tubule development (GO:0072014)|regulation of cell adhesion (GO:0030155)|somite specification (GO:0001757)	cytoplasmic vesicle (GO:0031410)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|Notch binding (GO:0005112)			NS(2)|breast(1)|endometrium(1)|large_intestine(7)|lung(17)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	33		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;6.71e-23)|BRCA - Breast invasive adenocarcinoma(81;4.81e-06)|GBM - Glioblastoma multiforme(31;0.0584)		CAGTTGCACTGCCAGGGCTGC	0.627																																						ENST00000366756.3																			0				NS(2)|breast(1)|endometrium(1)|large_intestine(7)|lung(17)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	33						c.(817-819)Cag>Tag		delta-like 1 (Drosophila)							39	47	44					6																	170594702		2203	4300	6503	SO:0001587	stop_gained	28514				cell communication|cell fate determination|hemopoiesis|Notch receptor processing|Notch signaling pathway|regulation of cell adhesion	extracellular region|integral to plasma membrane	calcium ion binding|Notch binding	g.chr6:170594702G>A	AF003522	CCDS5313.1	6q13-q22.33	2008-07-28	2001-12-03		ENSG00000198719	ENSG00000198719			2908	protein-coding gene	gene with protein product		606582	"delta (Drosophila)-like 1"				Standard	NM_005618		Approved		uc003qxm.3	O00548	OTTHUMG00000016078	ENST00000366756.3:c.817C>T	6.37:g.170594702G>A	ENSP00000355718:p.Gln273*						p.Q273*	NM_005618.3	NP_005609.3	O00548	DLL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;6.71e-23)|BRCA - Breast invasive adenocarcinoma(81;4.81e-06)|GBM - Glioblastoma multiforme(31;0.0584)	6	1150	-		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)	273			EGF-like 2.		B2RAK7|B5M0B3|Q9NU41|Q9UJV2	Nonsense_Mutation	SNP	ENST00000366756.3	37	c.817C>T	CCDS5313.1	.	.	.	.	.	.	.	.	.	.	G	41	8.770183	0.98948	.	.	ENSG00000198719	ENST00000366756	.	.	.	5.08	5.08	0.68730	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.35671	T	0.21	.	18.4705	0.90773	0.0:0.0:1.0:0.0	.	.	.	.	X	273	.	ENSP00000355718:Q273X	Q	-	1	0	DLL1	170436627	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.787000	0.99055	2.376000	0.81061	0.563000	0.77884	CAG		0.627	DLL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043254.1			20	23	0	0	0	1	0	20	23					A	170594702	G	A	170594702	4	1	435	1	0	0	0	0	0	1	0	0	4566	1328	46	3	1378	3	DLL1	6	170594702	Nonsense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	44	170594702	520365	3448	24373											
FAM120B	84498	broad.mit.edu	37	chr6	170626692	170626692	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gagaatacttttctgctttgCgagattttgttaaaactttt	10	19	7	5	1	1	2	0	0	1	2	1	4	1	2	0	0	4	2	0	0	4	9			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:170626692C>T	ENST00000476287.1	+	2	322	c.214C>T	c.(214-216)Cga>Tga	p.R72*	FAM120B_ENST00000537664.1_Nonsense_Mutation_p.R95*|FAM120B_ENST00000252510.9_Intron|FAM120B_ENST00000540480.1_Nonsense_Mutation_p.R84*	NM_032448.1	NP_115824.1	Q96EK7	F120B_HUMAN	family with sequence similarity 120B	72					cell differentiation (GO:0030154)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)		p.R72*(1)		endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(1)|prostate(2)|skin(2)	44		Breast(66;0.000338)|Esophageal squamous(34;0.241)		OV - Ovarian serous cystadenocarcinoma(33;3.94e-22)|BRCA - Breast invasive adenocarcinoma(81;6.47e-06)|GBM - Glioblastoma multiforme(31;0.0899)		TTCTGCTTTGCGAGATTTTGT	0.443																																						ENST00000476287.1																			1	Substitution - Nonsense(1)	p.R72*(1)	large_intestine(1)	endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(1)|prostate(2)|skin(2)	44						c.(214-216)Cga>Tga		family with sequence similarity 120B							133	129	131					6																	170626692		2203	4300	6503	SO:0001587	stop_gained	84498				cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	g.chr6:170626692C>T	AB058741	CCDS5314.1, CCDS75555.1	6q27	2011-04-13	2006-07-04	2006-07-04	ENSG00000112584	ENSG00000112584			21109	protein-coding gene	gene with protein product	"PPARgamma constitutive coactivator 1", "constitutive coactivator of PPAR-gamma"	612266	"KIAA1838"	KIAA1838		14585507	Standard	NM_032448		Approved	PGCC1, CCPG	uc003qxp.3	Q96EK7	OTTHUMG00000016080	ENST00000476287.1:c.214C>T	6.37:g.170626692C>T	ENSP00000417970:p.Arg72*					FAM120B_ENST00000537664.1_Nonsense_Mutation_p.R95*|FAM120B_ENST00000540480.1_Nonsense_Mutation_p.R84*|FAM120B_ENST00000252510.9_Intron	p.R72*	NM_032448.1	NP_115824.1	Q96EK7	F120B_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;3.94e-22)|BRCA - Breast invasive adenocarcinoma(81;6.47e-06)|GBM - Glioblastoma multiforme(31;0.0899)	2	322	+		Breast(66;0.000338)|Esophageal squamous(34;0.241)	72					B4DL34|Q86V68|Q96JI9	Nonsense_Mutation	SNP	ENST00000476287.1	37	c.214C>T	CCDS5314.1	.	.	.	.	.	.	.	.	.	.	C	35	5.535989	0.96460	.	.	ENSG00000112584	ENST00000540480;ENST00000537664;ENST00000476287	.	.	.	5.98	1.61	0.23674	.	0.123569	0.53938	D	0.000047	.	.	.	.	.	.	0.24531	N	0.994114	.	.	.	.	.	.	.	.	.	.	0.11182	T	0.66	-12.0974	10.0913	0.42449	0.2921:0.5216:0.1863:0.0	.	.	.	.	X	84;95;72	.	ENSP00000436640:R72X	R	+	1	2	FAM120B	170468617	0.979000	0.34478	0.687000	0.30102	0.866000	0.49608	0.165000	0.16564	0.795000	0.33922	0.655000	0.94253	CGA		0.443	FAM120B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000043259.2	NM_032448		26	39	0	0	0	1	0	26	39					T	170626692	C	T	170626692	4	4	435	1	0	0	0	0	0	1	0	0	5417	760	27	1	216	1	FAM120B	6	170626692	Nonsense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	31990	170626692	488375	3449	24374											
PDGFA	5154	broad.mit.edu	37	chr7	540110	540110	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttttaacctttttcttttccGttttttacctgactccctag	5	22	3	11	1	1	1	0	1	1	0	3	1	3	1	4	0	2	1	4	0	3	10	rs375414569		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:540110G>A	ENST00000354513.5	-	6	999	c.607C>T	c.(607-609)Cgg>Tgg	p.R203W	PDGFA_ENST00000402802.3_Intron	NM_002607.5	NP_002598.4	P04085	PDGFA_HUMAN	platelet-derived growth factor alpha polypeptide	203					actin cytoskeleton organization (GO:0030036)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cell activation (GO:0001775)|cell projection assembly (GO:0030031)|cell-cell signaling (GO:0007267)|embryo development (GO:0009790)|epidermal growth factor receptor signaling pathway (GO:0007173)|extracellular matrix organization (GO:0030198)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hair follicle development (GO:0001942)|innate immune response (GO:0045087)|inner ear development (GO:0048839)|lung alveolus development (GO:0048286)|negative chemotaxis (GO:0050919)|negative regulation of phosphatidylinositol biosynthetic process (GO:0010512)|negative regulation of platelet activation (GO:0010544)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of cell division (GO:0051781)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway (GO:0035793)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein autophosphorylation (GO:0031954)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of branching involved in salivary gland morphogenesis by epithelial-mesenchymal signaling (GO:0060683)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|regulation of smooth muscle cell migration (GO:0014910)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to hypoxia (GO:0001666)|response to inorganic substance (GO:0010035)|response to retinoic acid (GO:0032526)|response to wounding (GO:0009611)|skin development (GO:0043588)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	cell surface (GO:0009986)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi membrane (GO:0000139)|microvillus (GO:0005902)|platelet alpha granule lumen (GO:0031093)	collagen binding (GO:0005518)|growth factor activity (GO:0008083)|platelet-derived growth factor binding (GO:0048407)|platelet-derived growth factor receptor binding (GO:0005161)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	16		Ovarian(82;0.0112)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|Epithelial(4;1.1e-17)|OV - Ovarian serous cystadenocarcinoma(56;1.7e-17)|all cancers(6;4.89e-15)		TTTCTTTTCCGTTTTTTACCT	0.547																																						ENST00000354513.5																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	16						c.(607-609)Cgg>Tgg		platelet-derived growth factor alpha polypeptide		G	TRP/ARG,	0,4406		0,0,2203	211	165	181		607,	4.4	1	7		181	1,8591	1.2+/-3.3	0,1,4295	no	missense,intron	PDGFA	NM_002607.5,NM_033023.4	101,	0,1,6498	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,	203/212,	540110	1,12997	2203	4296	6499	SO:0001583	missense	0				actin cytoskeleton organization|angiogenesis|cell projection assembly|embryo development|hair follicle development|lung alveolus development|negative chemotaxis|negative regulation of phosphatidylinositol biosynthetic process|negative regulation of platelet activation|organ morphogenesis|platelet activation|platelet degranulation|positive regulation of cell division|positive regulation of DNA replication|positive regulation of ERK1 and ERK2 cascade|positive regulation of fibroblast proliferation|positive regulation of MAP kinase activity|positive regulation of mesenchymal cell proliferation|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein autophosphorylation|positive regulation of protein kinase B signaling cascade|regulation of actin cytoskeleton organization|regulation of branching involved in salivary gland morphogenesis by epithelial-mesenchymal signaling|regulation of peptidyl-tyrosine phosphorylation|regulation of smooth muscle cell migration|skin development	cell surface|endoplasmic reticulum lumen|extracellular space|Golgi membrane|microvillus|platelet alpha granule lumen	collagen binding|eukaryotic cell surface binding|growth factor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein heterodimerization activity|protein homodimerization activity	g.chr7:540110G>A		CCDS34578.1, CCDS47524.1	7p22	2008-07-18			ENSG00000197461	ENSG00000197461			8799	protein-coding gene	gene with protein product	"PDGF A-chain", "platelet-derived growth factor alpha chain"	173430				1505216, 2536956	Standard	NM_002607		Approved	PDGF1, PDGF-A	uc003sir.3	P04085	OTTHUMG00000151412	ENST00000354513.5:c.607C>T	7.37:g.540110G>A	ENSP00000346508:p.Arg203Trp					PDGFA_ENST00000402802.3_Intron	p.R203W	NM_002607.5	NP_002598.4	P04085	PDGFA_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|Epithelial(4;1.1e-17)|OV - Ovarian serous cystadenocarcinoma(56;1.7e-17)|all cancers(6;4.89e-15)	6	999	-		Ovarian(82;0.0112)	203					B5BU73	Missense_Mutation	SNP	ENST00000354513.5	37	c.607C>T	CCDS34578.1	.	.	.	.	.	.	.	.	.	.	G	16.13	3.036236	0.54896	0.0	1.16E-4	ENSG00000197461	ENST00000354513	T	0.53857	0.6	5.34	4.44	0.53790	.	0.416661	0.25651	N	0.029207	T	0.60025	0.2237	L	0.27053	0.805	0.38626	D	0.951265	D	0.89917	1.0	D	0.77557	0.99	T	0.66217	-0.5979	10	0.62326	D	0.03	-10.1431	14.2914	0.66281	0.0:0.0:0.8499:0.1501	.	203	P04085	PDGFA_HUMAN	W	203	ENSP00000346508:R203W	ENSP00000346508:R203W	R	-	1	2	PDGFA	506636	1.000000	0.71417	0.981000	0.43875	0.995000	0.86356	3.750000	0.55157	1.207000	0.43291	0.561000	0.74099	CGG		0.547	PDGFA-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000322534.1			12	30	0	0	0	1	0	12	30					A	540110	G	A	540110	3	1	435	1	0	0	0	0	1	0	0	0	11657	1144	40	1	47	1	PDGFA	7	540110	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08		540110	158598553	3450	24375											
PRKAR1B	5575	broad.mit.edu	37	chr7	590210	590210	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggccacgacagtggccgcccGgggccggttcagcagcagtg	6	4	17	14	4	1	0	1	0	0	0	1	1	1	0	4	5	2	3	4	5	0	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:590210G>A	ENST00000406797.1	-	11	1177	c.1003C>T	c.(1003-1005)Cgg>Tgg	p.R335W	AC147651.2_ENST00000517177.1_RNA|PRKAR1B_ENST00000403562.1_Missense_Mutation_p.R335W|PRKAR1B_ENST00000360274.4_Missense_Mutation_p.R335W|PRKAR1B_ENST00000537384.1_Missense_Mutation_p.R335W|PRKAR1B_ENST00000544935.1_Missense_Mutation_p.R335W	NM_001164761.1	NP_001158233.1	P31321	KAP1_HUMAN	protein kinase, cAMP-dependent, regulatory, type I, beta	335					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|blood coagulation (GO:0007596)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|negative regulation of cAMP-dependent protein kinase activity (GO:2000480)|neurotrophin TRK receptor signaling pathway (GO:0048011)|protein phosphorylation (GO:0006468)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cAMP-dependent protein kinase complex (GO:0005952)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|cAMP-dependent protein kinase inhibitor activity (GO:0004862)|cAMP-dependent protein kinase regulator activity (GO:0008603)|protein kinase A catalytic subunit binding (GO:0034236)			endometrium(4)|large_intestine(1)|liver(1)|lung(10)|prostate(1)	17		Ovarian(82;0.0779)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|Epithelial(4;5.75e-19)|OV - Ovarian serous cystadenocarcinoma(56;2.01e-18)|all cancers(6;3.96e-16)|BRCA - Breast invasive adenocarcinoma(126;0.152)		GTGGCCGCCCGGGGCCGGTTC	0.667																																						ENST00000406797.1																			0				endometrium(4)|large_intestine(1)|liver(1)|lung(10)|prostate(1)	17						c.(1003-1005)Cgg>Tgg		protein kinase, cAMP-dependent, regulatory, type I, beta							13	14	14					7																	590210		2176	4263	6439	SO:0001583	missense	5575				activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|protein phosphorylation|regulation of insulin secretion|transmembrane transport|water transport	cAMP-dependent protein kinase complex|cytosol	cAMP binding|cAMP-dependent protein kinase regulator activity	g.chr7:590210G>A	M65066	CCDS34579.1	7p22.3	2013-09-19			ENSG00000188191	ENSG00000188191	2.7.11.1		9390	protein-coding gene	gene with protein product		176911				1358799, 3479018	Standard	NM_002735		Approved		uc003siw.2	P31321	OTTHUMG00000151411	ENST00000406797.1:c.1003C>T	7.37:g.590210G>A	ENSP00000385749:p.Arg335Trp					PRKAR1B_ENST00000537384.1_Missense_Mutation_p.R335W|PRKAR1B_ENST00000360274.4_Missense_Mutation_p.R335W|PRKAR1B_ENST00000403562.1_Missense_Mutation_p.R335W|PRKAR1B_ENST00000544935.1_Missense_Mutation_p.R335W	p.R335W	NM_001164761.1	NP_001158233.1	P31321	KAP1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|Epithelial(4;5.75e-19)|OV - Ovarian serous cystadenocarcinoma(56;2.01e-18)|all cancers(6;3.96e-16)|BRCA - Breast invasive adenocarcinoma(126;0.152)	11	1177	-		Ovarian(82;0.0779)	335					Q8N422	Missense_Mutation	SNP	ENST00000406797.1	37	c.1003C>T	CCDS34579.1	.	.	.	.	.	.	.	.	.	.	G	17.49	3.402947	0.62288	.	.	ENSG00000188191	ENST00000537384;ENST00000544935;ENST00000406797;ENST00000403562;ENST00000360274	D;D;D;D;D	0.91521	-2.86;-2.86;-2.86;-2.86;-2.86	4.65	4.65	0.58169	Cyclic nucleotide-binding, conserved site (1);Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);Cyclic nucleotide-binding domain (3);	0.000000	0.85682	U	0.000000	D	0.97065	0.9041	H	0.98594	4.275	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97920	1.0314	10	0.87932	D	0	-0.2496	12.6157	0.56576	0.0:0.0:0.8342:0.1657	.	335	P31321	KAP1_HUMAN	W	335	ENSP00000440449:R335W;ENSP00000444487:R335W;ENSP00000385749:R335W;ENSP00000385349:R335W;ENSP00000353415:R335W	ENSP00000353415:R335W	R	-	1	2	PRKAR1B	556736	1.000000	0.71417	0.985000	0.45067	0.770000	0.43624	1.989000	0.40707	2.149000	0.67028	0.561000	0.74099	CGG		0.667	PRKAR1B-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322525.1			3	8	0	0	0	1	0	3	8					A	590210	G	A	590210	3	1	435	1	0	0	0	0	1	0	0	0	12504	1115	39	2	146	2	PRKAR1B	7	590210	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	50100	590210	158548453	3451	24376											
PRKAR1B	5575	broad.mit.edu	37	chr7	618939	618939	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	caggctctccctggaccacaAttttctctccatcttcaaac	9	12	4	16	0	4	0	1	0	3	0	7	1	5	1	3	2	1	1	3	2	2	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:618939A>G	ENST00000406797.1	-	9	1019	c.845T>C	c.(844-846)aTt>aCt	p.I282T	PRKAR1B_ENST00000403562.1_Missense_Mutation_p.I282T|PRKAR1B_ENST00000360274.4_Missense_Mutation_p.I282T|PRKAR1B_ENST00000537384.1_Missense_Mutation_p.I282T|PRKAR1B_ENST00000544935.1_Missense_Mutation_p.I282T	NM_001164761.1	NP_001158233.1	P31321	KAP1_HUMAN	protein kinase, cAMP-dependent, regulatory, type I, beta	282					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|blood coagulation (GO:0007596)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|negative regulation of cAMP-dependent protein kinase activity (GO:2000480)|neurotrophin TRK receptor signaling pathway (GO:0048011)|protein phosphorylation (GO:0006468)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cAMP-dependent protein kinase complex (GO:0005952)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|cAMP-dependent protein kinase inhibitor activity (GO:0004862)|cAMP-dependent protein kinase regulator activity (GO:0008603)|protein kinase A catalytic subunit binding (GO:0034236)			endometrium(4)|large_intestine(1)|liver(1)|lung(10)|prostate(1)	17		Ovarian(82;0.0779)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|Epithelial(4;5.75e-19)|OV - Ovarian serous cystadenocarcinoma(56;2.01e-18)|all cancers(6;3.96e-16)|BRCA - Breast invasive adenocarcinoma(126;0.152)		CTGGACCACAATTTTCTCTCC	0.612																																						ENST00000406797.1																			0				endometrium(4)|large_intestine(1)|liver(1)|lung(10)|prostate(1)	17						c.(844-846)aTt>aCt		protein kinase, cAMP-dependent, regulatory, type I, beta							163	127	139					7																	618939		2203	4296	6499	SO:0001583	missense	5575				activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|protein phosphorylation|regulation of insulin secretion|transmembrane transport|water transport	cAMP-dependent protein kinase complex|cytosol	cAMP binding|cAMP-dependent protein kinase regulator activity	g.chr7:618939A>G	M65066	CCDS34579.1	7p22.3	2013-09-19			ENSG00000188191	ENSG00000188191	2.7.11.1		9390	protein-coding gene	gene with protein product		176911				1358799, 3479018	Standard	NM_002735		Approved		uc003siw.2	P31321	OTTHUMG00000151411	ENST00000406797.1:c.845T>C	7.37:g.618939A>G	ENSP00000385749:p.Ile282Thr					PRKAR1B_ENST00000537384.1_Missense_Mutation_p.I282T|PRKAR1B_ENST00000360274.4_Missense_Mutation_p.I282T|PRKAR1B_ENST00000403562.1_Missense_Mutation_p.I282T|PRKAR1B_ENST00000544935.1_Missense_Mutation_p.I282T	p.I282T	NM_001164761.1	NP_001158233.1	P31321	KAP1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|Epithelial(4;5.75e-19)|OV - Ovarian serous cystadenocarcinoma(56;2.01e-18)|all cancers(6;3.96e-16)|BRCA - Breast invasive adenocarcinoma(126;0.152)	9	1019	-		Ovarian(82;0.0779)	282					Q8N422	Missense_Mutation	SNP	ENST00000406797.1	37	c.845T>C	CCDS34579.1	.	.	.	.	.	.	.	.	.	.	A	18.27	3.587328	0.66105	.	.	ENSG00000188191	ENST00000537384;ENST00000544935;ENST00000406797;ENST00000403562;ENST00000360274;ENST00000340920;ENST00000430040	D;D;D;D;D;T	0.95821	-3.82;-3.82;-3.82;-3.82;-3.82;0.91	5.14	5.14	0.70334	Cyclic nucleotide-binding, conserved site (1);Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);Cyclic nucleotide-binding domain (3);	0.000000	0.85682	U	0.000000	D	0.98071	0.9364	M	0.93062	3.375	0.80722	D	1	D	0.76494	0.999	D	0.74348	0.983	D	0.99126	1.0851	10	0.87932	D	0	0.1284	13.9603	0.64175	1.0:0.0:0.0:0.0	.	282	P31321	KAP1_HUMAN	T	282;282;282;282;282;47;282	ENSP00000440449:I282T;ENSP00000444487:I282T;ENSP00000385749:I282T;ENSP00000385349:I282T;ENSP00000353415:I282T;ENSP00000402648:I282T	ENSP00000340984:I47T	I	-	2	0	PRKAR1B	585465	1.000000	0.71417	0.657000	0.29651	0.203000	0.24098	8.217000	0.89766	1.935000	0.56089	0.444000	0.29173	ATT		0.612	PRKAR1B-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322525.1			31	52	0	0	0	1	0	31	52					G	618939	A	G	618939	3	3	435	1	0	0	0	0	1	0	0	0	12504	101	4	4	312	4	PRKAR1B	7	618939	Missense_Mutation	SNP	A	TCGA-XK-AAIW-01A-11D-A41K-08	28729	618939	158519724	3452	24377											
HEATR2	54919	broad.mit.edu	37	chr7	825228	825228	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aggccgtcatccacaagcacCgctcggccacctactgcgag	9	5	10	17	4	1	0	1	0	0	0	3	1	2	0	5	2	3	2	5	2	2	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:825228C>T	ENST00000297440.6	+	13	2526	c.2506C>T	c.(2506-2508)Cgc>Tgc	p.R836C	HEATR2_ENST00000313147.5_Intron|HEATR2_ENST00000403952.3_Missense_Mutation_p.R261C	NM_017802.3	NP_060272.3	Q86Y56	HEAT2_HUMAN	HEAT repeat containing 2	836						cytoplasm (GO:0005737)		p.R836S(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|prostate(4)|skin(1)	22		Ovarian(82;0.0112)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0182)|Epithelial(4;5.48e-17)|OV - Ovarian serous cystadenocarcinoma(56;1.95e-16)|all cancers(6;2.98e-14)		CCACAAGCACCGCTCGGCCAC	0.607																																						ENST00000297440.6																			1	Substitution - Missense(1)	p.R836S(1)	ovary(1)	breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|prostate(4)|skin(1)	22						c.(2506-2508)Cgc>Tgc		HEAT repeat containing 2							74	72	72					7																	825228		2203	4300	6503	SO:0001583	missense	54919						protein binding	g.chr7:825228C>T	AL832914, AK000404, NM_017802, AK056233	CCDS34580.1	7p22.3	2014-05-06	2006-05-19		ENSG00000164818	ENSG00000164818			26013	protein-coding gene	gene with protein product		614864				23040496	Standard	NM_017802		Approved	FLJ20397, FLJ31671, FLJ39381, FLJ25564, CILD18	uc010krz.1	Q86Y56	OTTHUMG00000151416	ENST00000297440.6:c.2506C>T	7.37:g.825228C>T	ENSP00000297440:p.Arg836Cys					HEATR2_ENST00000403952.3_Missense_Mutation_p.R261C|HEATR2_ENST00000313147.5_Intron	p.R836C	NM_017802.3	NP_060272.3	Q86Y56	HEAT2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0182)|Epithelial(4;5.48e-17)|OV - Ovarian serous cystadenocarcinoma(56;1.95e-16)|all cancers(6;2.98e-14)	13	2526	+		Ovarian(82;0.0112)	836					Q69YL1|Q96FI9|Q9NX75	Missense_Mutation	SNP	ENST00000297440.6	37	c.2506C>T	CCDS34580.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.98|18.98	3.737334|3.737334	0.69304|0.69304	.|.	.|.	ENSG00000164818|ENSG00000164818	ENST00000440747|ENST00000297440;ENST00000537862;ENST00000403952	.|T;T	.|0.67523	.|0.22;-0.27	4.84|4.84	4.84|4.84	0.62591|0.62591	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.80727|0.80727	0.4678|0.4678	M|M	0.82056|0.82056	2.57|2.57	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|1.0;1.0;1.0	.|D;D;D	.|0.91635	.|0.999;0.962;0.997	T|T	0.82963|0.82963	-0.0196|-0.0196	5|10	.|0.87932	.|D	.|0	-45.2734|-45.2734	10.6484|10.6484	0.45634|0.45634	0.1918:0.8082:0.0:0.0|0.1918:0.8082:0.0:0.0	.|.	.|836;261;582	.|Q86Y56;E9PGY2;F5H8D4	.|HEAT2_HUMAN;.;.	L|C	637|836;582;261	.|ENSP00000297440:R836C;ENSP00000384884:R261C	.|ENSP00000297440:R836C	P|R	+|+	2|1	0|0	HEATR2|HEATR2	791754|791754	0.997000|0.997000	0.39634|0.39634	0.998000|0.998000	0.56505|0.56505	0.599000|0.599000	0.36880|0.36880	2.728000|2.728000	0.47319|0.47319	2.233000|2.233000	0.73108|0.73108	0.462000|0.462000	0.41574|0.41574	CCG|CGC		0.607	HEATR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322542.1	NM_017802		31	46	0	0	0	1	0	31	46					T	825228	C	T	825228	3	4	435	1	0	0	0	0	1	0	0	0	7028	652	23	2	2556	2	HEATR2	7	825228	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	206289	825228	158313435	3453	24378											
SUN1	23353	broad.mit.edu	37	chr7	883102	883102	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aaggacgtgctcacggcgcaCcccgcggcccccgggcccgt	5	3	14	19	7	1	0	1	0	0	0	1	1	1	1	5	4	1	2	5	4	1	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:883102C>T	ENST00000405266.1	+	5	627	c.603C>T	c.(601-603)caC>caT	p.H201H	SUN1_ENST00000425407.2_Silent_p.H151H|SUN1_ENST00000452783.2_Intron|SUN1_ENST00000389574.3_Silent_p.H151H|SUN1_ENST00000457378.2_Silent_p.H222H|SUN1_ENST00000456758.2_Silent_p.H259H|SUN1_ENST00000403868.1_Silent_p.H201H|SUN1_ENST00000401592.1_Silent_p.H201H			O94901	SUN1_HUMAN	Sad1 and UNC84 domain containing 1	201					cytoskeletal anchoring at nuclear membrane (GO:0090286)|nuclear envelope organization (GO:0006998)|nuclear matrix anchoring at nuclear membrane (GO:0090292)	acrosomal membrane (GO:0002080)|integral component of nuclear inner membrane (GO:0005639)|nuclear envelope (GO:0005635)|SUN-KASH complex (GO:0034993)				NS(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(17)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						TCACGGCGCACCCCGCGGCCC	0.582																																						ENST00000456758.2																			0				NS(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(17)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						c.(775-777)caC>caT		Sad1 and UNC84 domain containing 1							94	112	106					7																	883102		1972	4138	6110	SO:0001819	synonymous_variant	23353				cytoskeletal anchoring at nuclear membrane|nuclear matrix anchoring at nuclear membrane	integral to membrane|nuclear inner membrane|SUN-KASH complex	protein binding	g.chr7:883102C>T	AF202724	CCDS43533.1, CCDS47525.1, CCDS55078.1, CCDS55079.1, CCDS55080.1	7p22.3	2010-01-27	2010-01-27	2010-01-27	ENSG00000164828	ENSG00000164828			18587	protein-coding gene	gene with protein product	"Sad1 unc-84 domain protein 1"	607723	"unc-84 homolog A (C. elegans)"	UNC84A		11593002	Standard	NM_001130965		Approved	KIAA0810, FLJ12407	uc021zym.1	O94901	OTTHUMG00000151426	ENST00000405266.1:c.603C>T	7.37:g.883102C>T						SUN1_ENST00000452783.2_Intron|SUN1_ENST00000457378.2_Silent_p.H222H|SUN1_ENST00000425407.2_Silent_p.H151H|SUN1_ENST00000405266.1_Silent_p.H201H|SUN1_ENST00000389574.3_Silent_p.H151H|SUN1_ENST00000401592.1_Silent_p.H201H|SUN1_ENST00000403868.1_Silent_p.H201H	p.H259H			O94901	SUN1_HUMAN			8	777	+			201			EMD-binding.|SYNE2-binding.		A5PL20|B3KMV7|B4DZF7|B7WNY4|B7WP53|E9PDU4|E9PF23|F8WD13|Q96CZ7|Q9HA14|Q9UH98	Silent	SNP	ENST00000405266.1	37	c.777C>T		.	.	.	.	.	.	.	.	.	.	C	4.369	0.067993	0.08436	.	.	ENSG00000164828	ENST00000419312	.	.	.	4.16	0.104	0.14531	.	.	.	.	.	T	0.20700	0.0498	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.23226	-1.0194	4	.	.	.	-0.2933	1.564	0.02601	0.1455:0.4659:0.142:0.2466	.	.	.	.	I	42	.	.	T	+	2	0	SUN1	849628	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.772000	0.26647	0.029000	0.15352	0.591000	0.81541	ACC		0.582	SUN1-001	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000322566.1	NM_025154		17	123	0	0	0	1	0	17	123					T	883102	C	T	883102	2	4	435	1	0	0	0	0	0	0	0	1	15388	506	18	3		3	SUN1	7	883102	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	57874	883102	158255561	3454	24379											
C7orf50	84310	broad.mit.edu	37	chr7	1049777	1049777	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgggcctgagcacagcttcGccctgaaagtcaaggaacac	11	5	11	14	2	1	2	1	2	0	0	2	3	1	3	3	2	3	2	3	2	3	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:1049777G>A	ENST00000397098.3	-	3	1058	c.132C>T	c.(130-132)ggC>ggT	p.G44G	C7orf50_ENST00000397100.2_Silent_p.G44G|C7orf50_ENST00000488073.1_5'UTR|C7orf50_ENST00000357429.6_Silent_p.G44G			Q9BRJ6	CG050_HUMAN	chromosome 7 open reading frame 50	44							poly(A) RNA binding (GO:0044822)			kidney(1)|large_intestine(1)|lung(3)|ovary(1)	6		Ovarian(82;0.0779)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0216)|OV - Ovarian serous cystadenocarcinoma(56;1.3e-15)		GCACAGCTTCGCCCTGAAAGT	0.607																																						ENST00000397098.3																			0				kidney(1)|large_intestine(1)|lung(3)|ovary(1)	6						c.(130-132)ggC>ggT		chromosome 7 open reading frame 50							51	47	49					7																	1049777		2199	4299	6498	SO:0001819	synonymous_variant	84310						protein binding	g.chr7:1049777G>A	BC006224	CCDS5320.1	7p22.3	2011-11-25			ENSG00000146540	ENSG00000146540			22421	protein-coding gene	gene with protein product							Standard	NM_032350		Approved	MGC11257, YCR016W	uc011jvu.1	Q9BRJ6	OTTHUMG00000151477	ENST00000397098.3:c.132C>T	7.37:g.1049777G>A						C7orf50_ENST00000488073.1_5'UTR|C7orf50_ENST00000357429.6_Silent_p.G44G|C7orf50_ENST00000397100.2_Silent_p.G44G	p.G44G			Q9BRJ6	CG050_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0216)|OV - Ovarian serous cystadenocarcinoma(56;1.3e-15)	3	1058	-		Ovarian(82;0.0779)	44						Silent	SNP	ENST00000397098.3	37	c.132C>T	CCDS5320.1	.	.	.	.	.	.	.	.	.	.	t	9.163	1.019228	0.19355	.	.	ENSG00000146540	ENST00000412051	.	.	.	2.24	-4.47	0.03525	.	.	.	.	.	.	.	.	.	.	.	0.20873	N	0.999839	.	.	.	.	.	.	.	.	.	.	.	.	.	-1.1077	0.8481	0.01166	0.4204:0.1076:0.2669:0.2051	.	.	.	.	X	29	.	.	R	-	1	2	C7orf50	1016303	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-2.357000	0.01086	-2.568000	0.00469	-2.480000	0.00198	CGA		0.607	C7orf50-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322817.3	NM_032350		4	19	0	0	0	1	0	4	19					A	1049777	G	A	1049777	2	1	435	1	0	0	0	0	0	0	0	1	2399	1074	38	1		1	C7orf50	7	1049777	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	166675	1049777	158088886	3455	24380											
GPER	2852	broad.mit.edu	37	chr7	1131389	1131389	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	atgtgacttcccaagcccggGgcgtgggcctggagatgtac	7	8	15	11	2	0	2	0	1	0	1	1	3	1	2	3	4	2	1	3	4	2	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:1131389G>A	ENST00000297469.3	+	2	716	c.25G>A	c.(25-27)Ggc>Agc	p.G9S	C7orf50_ENST00000488073.1_Intron|GPER1_ENST00000397088.3_Missense_Mutation_p.G9S|GPER1_ENST00000397092.1_Missense_Mutation_p.G9S|C7orf50_ENST00000397098.3_Intron|C7orf50_ENST00000357429.6_Intron|GPER1_ENST00000401670.1_Missense_Mutation_p.G9S|C7orf50_ENST00000397100.2_Intron	NM_001505.2	NP_001496.1	Q99527	GPER1_HUMAN	G protein-coupled estrogen receptor 1	9					apoptotic chromosome condensation (GO:0030263)|cell cycle (GO:0007049)|cellular response to estradiol stimulus (GO:0071392)|cellular response to glucose stimulus (GO:0071333)|cellular response to mineralocorticoid stimulus (GO:0071389)|cellular response to peptide hormone stimulus (GO:0071375)|cellular response to tumor necrosis factor (GO:0071356)|cytosolic calcium ion homeostasis (GO:0051480)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|mineralocorticoid receptor signaling pathway (GO:0031959)|negative regulation of cell cycle arrest (GO:0071157)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA metabolic process (GO:0051053)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of gene expression (GO:0010629)|negative regulation of inflammatory response (GO:0050728)|negative regulation of leukocyte activation (GO:0002695)|negative regulation of lipid biosynthetic process (GO:0051055)|neuronal action potential (GO:0019228)|nuclear fragmentation involved in apoptotic nuclear change (GO:0030264)|positive regulation of adenylate cyclase activity involved in G-protein coupled receptor signaling pathway (GO:0010579)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of endothelial cell apoptotic process (GO:2000353)|positive regulation of epidermal growth factor receptor signaling pathway (GO:0045742)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)|positive regulation of gene expression (GO:0010628)|positive regulation of inositol trisphosphate biosynthetic process (GO:0032962)|positive regulation of insulin secretion (GO:0032024)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of neurogenesis (GO:0050769)|positive regulation of neurotransmitter secretion (GO:0001956)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of uterine smooth muscle contraction (GO:0070474)|positive regulation of vasodilation (GO:0045909)|steroid hormone mediated signaling pathway (GO:0043401)	axon (GO:0030424)|axon terminus (GO:0043679)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|dendrite (GO:0030425)|dendritic shaft (GO:0043198)|dendritic spine head (GO:0044327)|dendritic spine membrane (GO:0032591)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|keratin filament (GO:0045095)|mitochondrial membrane (GO:0031966)|neuronal postsynaptic density (GO:0097481)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802)	chromatin binding (GO:0003682)|estrogen receptor activity (GO:0030284)|G-protein coupled receptor activity (GO:0004930)|mineralocorticoid receptor activity (GO:0017082)|steroid binding (GO:0005496)										CCAAGCCCGGGGCGTGGGCCT	0.612																																						ENST00000397092.1																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)	13						c.(25-27)Ggc>Agc									54	60	58					7																	1131389		2203	4300	6503	SO:0001583	missense	0					endoplasmic reticulum membrane|Golgi membrane|integral to plasma membrane	G-protein coupled receptor activity	g.chr7:1131389G>A	U63917	CCDS5322.1	7p22	2013-08-14	2007-07-03	2013-08-14	ENSG00000164850	ENSG00000164850			4485	protein-coding gene	gene with protein product		601805	"G protein-coupled receptor 30"	CMKRL2, GPR30, GPER		9479505, 17655271	Standard	NM_001098201		Approved	FEG-1, GPCR-Br, LERGU, LERGU2, DRY12, LyGPR, CEPR	uc003skb.2	Q99527	OTTHUMG00000023680	ENST00000297469.3:c.25G>A	7.37:g.1131389G>A	ENSP00000297469:p.Gly9Ser					GPER_ENST00000397088.3_Missense_Mutation_p.G9S|C7orf50_ENST00000397098.3_Intron|GPER_ENST00000401670.1_Missense_Mutation_p.G9S|C7orf50_ENST00000488073.1_Intron|GPER_ENST00000297469.3_Missense_Mutation_p.G9S|C7orf50_ENST00000357429.6_Intron|C7orf50_ENST00000397100.2_Intron	p.G9S	NM_001039966.1	NP_001035055.1	Q99527	GPER_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;2.32e-16)	3	909	+		Ovarian(82;0.0253)	9					A8K6C5|B5BUJ1|O00143|O43494|Q13631|Q6FHL1|Q96F42|Q99981	Missense_Mutation	SNP	ENST00000297469.3	37	c.25G>A	CCDS5322.1	.	.	.	.	.	.	.	.	.	.	G	4.057	0.008409	0.07912	.	.	ENSG00000164850	ENST00000401670;ENST00000413368;ENST00000397092;ENST00000297469;ENST00000397088;ENST00000508834	T;T;T;T;T	0.66099	-0.19;1.02;-0.19;-0.19;-0.19	4.44	-0.595	0.11660	.	2.152390	0.02111	N	0.054798	T	0.33118	0.0852	N	0.03608	-0.345	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.25117	-1.0141	10	0.08179	T	0.78	.	3.5821	0.07957	0.3027:0.0:0.4547:0.2426	.	9	Q99527	GPER_HUMAN	S	9	ENSP00000385151:G9S;ENSP00000410487:G9S;ENSP00000380281:G9S;ENSP00000297469:G9S;ENSP00000380277:G9S	ENSP00000297469:G9S	G	+	1	0	GPER	1097915	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.333000	0.07894	-0.116000	0.11893	0.655000	0.94253	GGC		0.612	GPER1-030	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060001.1	NM_001039966		19	42	0	0	0	1	0	19	42					A	1131389	G	A	1131389	3	1	435	1	0	0	0	0	1	0	0	0	6607	1232	43	3	27	3	GPER	7	1131389	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	81612	1131389	158007274	3456	24381											
MICALL2	79778	broad.mit.edu	37	chr7	1481957	1481957	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tgccgggggcaacgcggatgCctgagaggtactgctcgtgc	6	7	17	11	4	0	1	0	1	0	1	1	3	0	2	2	4	6	3	2	4	2	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:1481957C>T	ENST00000297508.7	-	7	1757	c.1582G>A	c.(1582-1584)Gca>Aca	p.A528T	MICALL2_ENST00000405088.4_Missense_Mutation_p.A316T	NM_182924.3	NP_891554.1	Q8IY33	MILK2_HUMAN	MICAL-like 2	528	Mediates targeting to the cell plasma membrane. {ECO:0000250}.				actin cytoskeleton reorganization (GO:0031532)|actin filament polymerization (GO:0030041)|endocytic recycling (GO:0032456)|neuron projection development (GO:0031175)|substrate adhesion-dependent cell spreading (GO:0034446)|tight junction assembly (GO:0070830)	cell-cell junction (GO:0005911)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)|stress fiber (GO:0001725)|tight junction (GO:0005923)	actin filament binding (GO:0051015)|filamin binding (GO:0031005)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|lung(8)|ovary(2)|skin(2)	19		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;6.01e-15)		AACGCGGATGCCTGAGAGGTA	0.677																																						ENST00000297508.7																			0				breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|lung(8)|ovary(2)|skin(2)	19						c.(1582-1584)Gca>Aca		MICAL-like 2							100	99	100					7																	1481957		2203	4299	6502	SO:0001583	missense	79778					cytoplasm|cytoskeleton	zinc ion binding	g.chr7:1481957C>T	BC037988	CCDS5324.1	7p22.3	2006-11-24			ENSG00000164877	ENSG00000164877			29672	protein-coding gene	gene with protein product	"junctional Rab13-binding protein"					12110185, 16525024	Standard	NM_182924		Approved	MGC46023, FLJ23471, MICAL-L2, JRAB	uc003skj.4	Q8IY33	OTTHUMG00000119021	ENST00000297508.7:c.1582G>A	7.37:g.1481957C>T	ENSP00000297508:p.Ala528Thr					MICALL2_ENST00000405088.4_Missense_Mutation_p.A316T	p.A528T	NM_182924.3	NP_891554.1	Q8IY33	MILK2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;6.01e-15)	7	1757	-		Ovarian(82;0.0253)	528					D3YTD2|Q7RTP4|Q7Z655|Q8TEQ4|Q9H5F9	Missense_Mutation	SNP	ENST00000297508.7	37	c.1582G>A	CCDS5324.1	.	.	.	.	.	.	.	.	.	.	C	9.594	1.126900	0.20959	.	.	ENSG00000164877	ENST00000405088;ENST00000297508	T;T	0.68479	2.46;-0.33	3.18	1.28	0.21552	.	0.492896	0.15065	N	0.282562	T	0.38453	0.1041	N	0.11201	0.11	0.09310	N	1	B;B	0.15141	0.012;0.005	B;B	0.14023	0.01;0.004	T	0.20940	-1.0260	10	0.09338	T	0.73	.	5.8028	0.18424	0.0:0.7212:0.0:0.2788	.	528;316	Q8IY33;D3YTD2	MILK2_HUMAN;.	T	316;528	ENSP00000385928:A316T;ENSP00000297508:A528T	ENSP00000297508:A528T	A	-	1	0	MICALL2	1448483	0.000000	0.05858	0.002000	0.10522	0.003000	0.03518	-2.278000	0.01159	0.164000	0.19529	0.561000	0.74099	GCA		0.677	MICALL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239223.2	NM_182924		31	38	0	0	0	1	0	31	38					T	1481957	C	T	1481957	3	4	435	1	0	0	0	0	1	0	0	0	9574	739	26	3	1176	3	MICALL2	7	1481957	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	350568	1481957	157656706	3457	24382											
INTS1	26173	broad.mit.edu	37	chr7	1522221	1522221	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cacctcagaacggatcatgcGcagcttcagccagtcaggaa	12	6	10	13	2	4	1	4	0	0	1	4	3	4	3	2	2	4	2	2	2	2	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:1522221G>A	ENST00000404767.3	-	27	3749	c.3664C>T	c.(3664-3666)Cgc>Tgc	p.R1222C	INTS1_ENST00000389470.4_Missense_Mutation_p.R1384C	NM_001080453.2	NP_001073922.2	Q8N201	INT1_HUMAN	integrator complex subunit 1	1222					inner cell mass cell proliferation (GO:0001833)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|snRNA processing (GO:0016180)|U2 snRNA 3'-end processing (GO:0034474)	integral component of membrane (GO:0016021)|integrator complex (GO:0032039)|membrane (GO:0016020)				autonomic_ganglia(1)|cervix(1)|endometrium(14)|kidney(3)|large_intestine(7)|lung(24)|ovary(1)|prostate(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	62		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15)		CGGATCATGCGCAGCTTCAGC	0.667																																						ENST00000389470.4																			0				autonomic_ganglia(1)|cervix(1)|endometrium(14)|kidney(3)|large_intestine(7)|lung(24)|ovary(1)|prostate(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	62						c.(4150-4152)Cgc>Tgc		integrator complex subunit 1							46	56	52					7																	1522221		2121	4240	6361	SO:0001583	missense	26173				snRNA processing	integral to membrane|integrator complex|nuclear membrane		g.chr7:1522221G>A	AB037861	CCDS47526.1	7p22.3	2009-11-06			ENSG00000164880	ENSG00000164880			24555	protein-coding gene	gene with protein product		611345				16239144	Standard	NM_001080453		Approved	DKFZp586J0619, KIAA1440, INT1, NET28	uc003skn.2	Q8N201	OTTHUMG00000151449	ENST00000404767.3:c.3664C>T	7.37:g.1522221G>A	ENSP00000385722:p.Arg1222Cys					INTS1_ENST00000404767.3_Missense_Mutation_p.R1222C	p.R1384C			Q8N201	INT1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15)	28	4149	-		Ovarian(82;0.0253)	1222					A6NJ44|Q6NT70|Q6UX74|Q8WV40|Q96D36|Q9NTD1|Q9P2A8|Q9Y3W8	Missense_Mutation	SNP	ENST00000404767.3	37	c.4150C>T	CCDS47526.1	.	.	.	.	.	.	.	.	.	.	G	25.6	4.657147	0.88154	.	.	ENSG00000164880	ENST00000404767;ENST00000389470	T;T	0.59772	0.24;0.37	4.66	4.66	0.58398	.	0.000000	0.45606	U	0.000346	T	0.70806	0.3266	M	0.69823	2.125	0.80722	D	1	D	0.69078	0.997	P	0.56042	0.79	T	0.76599	-0.2900	10	0.87932	D	0	.	17.5591	0.87901	0.0:0.0:1.0:0.0	.	1222	Q8N201	INT1_HUMAN	C	1222;1384	ENSP00000385722:R1222C;ENSP00000374121:R1384C	ENSP00000374121:R1384C	R	-	1	0	INTS1	1488747	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	5.901000	0.69861	2.150000	0.67090	0.555000	0.69702	CGC		0.667	INTS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323683.1			19	22	0	0	0	1	0	19	22					A	1522221	G	A	1522221	3	1	435	1	0	0	0	0	1	0	0	0	7775	1087	38	1	2996	1	INTS1	7	1522221	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	40264	1522221	157616442	3458	24383											
TMEM184A	202915	broad.mit.edu	37	chr7	1586670	1586670	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cggagccgccgctggggtggGtgccgggcctgggcgcctcg	1	5	21	14	6	0	0	0	0	0	0	1	1	0	1	5	6	2	1	5	6	0	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:1586670G>A	ENST00000297477.5	-	9	1476	c.1160C>T	c.(1159-1161)aCc>aTc	p.T387I	TMEM184A_ENST00000449955.1_5'Flank	NM_001097620.1	NP_001091089.1	Q6ZMB5	T184A_HUMAN	transmembrane protein 184A	387					germ-line sex determination (GO:0018992)|regulation of protein localization (GO:0032880)|regulation of secretion (GO:0051046)	early endosome membrane (GO:0031901)|integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	12		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;5.88e-15)		GCTGGGGTGGGTGCCGGGCCT	0.711																																						ENST00000297477.5																			0				endometrium(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	12						c.(1159-1161)aCc>aTc		transmembrane protein 184A							19	24	22					7																	1586670		2185	4290	6475	SO:0001583	missense	202915					integral to membrane		g.chr7:1586670G>A		CCDS43537.1	7p22.3	2008-05-02			ENSG00000164855	ENSG00000164855			28797	protein-coding gene	gene with protein product						12477932	Standard	NM_001097620		Approved	MGC9712	uc003skv.4	Q6ZMB5	OTTHUMG00000119025	ENST00000297477.5:c.1160C>T	7.37:g.1586670G>A	ENSP00000297477:p.Thr387Ile						p.T387I	NM_001097620.1	NP_001091089.1	Q6ZMB5	T184A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;5.88e-15)	9	1476	-		Ovarian(82;0.0253)	387					Q8TBQ6	Missense_Mutation	SNP	ENST00000297477.5	37	c.1160C>T	CCDS43537.1	.	.	.	.	.	.	.	.	.	.	G	6.132	0.392503	0.11638	.	.	ENSG00000164855	ENST00000297477	T	0.32272	1.46	5.47	3.64	0.41730	.	9.644250	0.01755	U	0.030176	T	0.26195	0.0639	L	0.40543	1.245	0.09310	N	1	B	0.33022	0.394	B	0.23716	0.048	T	0.18903	-1.0322	10	0.36615	T	0.2	-30.6714	6.5738	0.22553	0.1398:0.0:0.6022:0.258	.	387	Q6ZMB5	T184A_HUMAN	I	387	ENSP00000297477:T387I	ENSP00000297477:T387I	T	-	2	0	TMEM184A	1553196	0.505000	0.26131	0.080000	0.20451	0.310000	0.27922	1.441000	0.35035	0.659000	0.30945	0.549000	0.68633	ACC		0.711	TMEM184A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239229.4	NM_152689		6	6	0	0	0	1	0	6	6					A	1586670	G	A	1586670	3	1	435	1	0	0	0	0	1	0	0	0	16101	1261	44	3	85	3	TMEM184A	7	1586670	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	64449	1586670	157551993	3459	24384											
TMEM184A	202915	broad.mit.edu	37	chr7	1587403	1587403	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaattctccttcttctctgcGtacacctggcaggggaaggc	7	11	11	12	1	3	0	0	0	3	0	5	2	3	1	2	4	2	2	2	4	3	4	rs372271365		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:1587403G>A	ENST00000297477.5	-	8	1303	c.987C>T	c.(985-987)taC>taT	p.Y329Y	TMEM184A_ENST00000449955.1_5'Flank	NM_001097620.1	NP_001091089.1	Q6ZMB5	T184A_HUMAN	transmembrane protein 184A	329					germ-line sex determination (GO:0018992)|regulation of protein localization (GO:0032880)|regulation of secretion (GO:0051046)	early endosome membrane (GO:0031901)|integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	12		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;5.88e-15)		TCTTCTCTGCGTACACCTGGC	0.647													g|||	1	0.000199681	0	0	5008	,	,		17412	0.001		0	False		,,,				2504	0					ENST00000297477.5																			0				endometrium(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	12						c.(985-987)taC>taT		transmembrane protein 184A				1,4279		0,1,2139	45	55	52		987	-4.2	0	7		52	0,8546		0,0,4273	no	coding-synonymous	TMEM184A	NM_001097620.1		0,1,6412	AA,AG,GG		0.0,0.0234,0.0078		329/414	1587403	1,12825	2140	4273	6413	SO:0001819	synonymous_variant	202915					integral to membrane		g.chr7:1587403G>A		CCDS43537.1	7p22.3	2008-05-02			ENSG00000164855	ENSG00000164855			28797	protein-coding gene	gene with protein product						12477932	Standard	NM_001097620		Approved	MGC9712	uc003skv.4	Q6ZMB5	OTTHUMG00000119025	ENST00000297477.5:c.987C>T	7.37:g.1587403G>A							p.Y329Y	NM_001097620.1	NP_001091089.1	Q6ZMB5	T184A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;5.88e-15)	8	1303	-		Ovarian(82;0.0253)	329					Q8TBQ6	Silent	SNP	ENST00000297477.5	37	c.987C>T	CCDS43537.1																																																																																				0.647	TMEM184A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239229.4	NM_152689		5	13	0	0	0	1	0	5	13					A	1587403	G	A	1587403	2	1	435	1	0	0	0	0	0	0	0	1	16101	1140	40	1		1	TMEM184A	7	1587403	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	733	1587403	157551260	3460	24385											
PSMG3	84262	broad.mit.edu	37	chr7	1608765	1608765	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gccaatccactttacctcatCctgccccagaaggacttttg	9	11	6	15	0	1	1	1	0	0	1	3	2	3	2	6	1	2	0	6	1	3	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:1608765C>T	ENST00000288607.2	-	1	864	c.211G>A	c.(211-213)Gat>Aat	p.D71N	PSMG3_ENST00000404674.3_Missense_Mutation_p.D71N|PSMG3-AS1_ENST00000437621.2_lincRNA|PSMG3_ENST00000252329.3_Missense_Mutation_p.D71N	NM_032302.3	NP_115678.1	Q9BT73	PSMG3_HUMAN	proteasome (prosome, macropain) assembly chaperone 3	71										lung(2)	2		Ovarian(82;0.11)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;5.63e-15)		TTTACCTCATCCTGCCCCAGA	0.592																																						ENST00000288607.2																			0				lung(2)	2						c.(211-213)Gat>Aat		proteasome (prosome, macropain) assembly chaperone 3							69	69	69					7																	1608765		2203	4299	6502	SO:0001583	missense	84262							g.chr7:1608765C>T	BC027171	CCDS5327.1	7p22.3	2010-07-07	2007-08-16	2007-08-16	ENSG00000157778	ENSG00000157778			22420	protein-coding gene	gene with protein product			"chromosome 7 open reading frame 48"	C7orf48		17189198	Standard	NM_032302		Approved	MGC10911, PAC3	uc011jvx.1	Q9BT73	OTTHUMG00000119043	ENST00000288607.2:c.211G>A	7.37:g.1608765C>T	ENSP00000288607:p.Asp71Asn					PSMG3_ENST00000404674.3_Missense_Mutation_p.D71N|PSMG3_ENST00000252329.3_Missense_Mutation_p.D71N	p.D71N	NM_032302.3	NP_115678.1	Q9BT73	PSMG3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;5.63e-15)	1	864	-		Ovarian(82;0.11)	71					A4D216|A8MPW2	Missense_Mutation	SNP	ENST00000288607.2	37	c.211G>A	CCDS5327.1	.	.	.	.	.	.	.	.	.	.	C	28.2	4.896608	0.91962	.	.	ENSG00000157778	ENST00000288607;ENST00000404674;ENST00000252329	.	.	.	5.05	5.05	0.67936	.	0.000000	0.85682	D	0.000000	T	0.76941	0.4058	M	0.77406	2.37	0.58432	D	0.999998	D	0.60575	0.988	P	0.57502	0.822	T	0.80710	-0.1261	9	0.66056	D	0.02	-16.3669	18.3837	0.90459	0.0:1.0:0.0:0.0	.	71	Q9BT73	PSMG3_HUMAN	N	71	.	ENSP00000252329:D71N	D	-	1	0	PSMG3	1575291	1.000000	0.71417	1.000000	0.80357	0.915000	0.54546	7.044000	0.76578	2.325000	0.78763	0.563000	0.77884	GAT		0.592	PSMG3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000239254.2	NM_032302		21	33	0	0	0	1	0	21	33					T	1608765	C	T	1608765	3	4	435	1	0	0	0	0	1	0	0	0	12713	855	30	3	165	3	PSMG3	7	1608765	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	21362	1608765	157529898	3461	24386											
MAD1L1	8379	broad.mit.edu	37	chr7	1937867	1937867	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggcagtcgcctgggtgctcgGcgtacagcgaggtcagccgg	5	6	18	12	5	1	0	1	0	0	0	3	1	1	0	2	5	4	3	2	5	1	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:1937867G>A	ENST00000406869.1	-	18	2524	c.1967C>T	c.(1966-1968)gCc>gTc	p.A656V	MAD1L1_ENST00000265854.7_Missense_Mutation_p.A656V|MAD1L1_ENST00000402746.1_Missense_Mutation_p.A564V|MAD1L1_ENST00000399654.2_Missense_Mutation_p.A656V			Q9Y6D9	MD1L1_HUMAN	MAD1 mitotic arrest deficient-like 1 (yeast)	656					mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|regulation of metaphase plate congression (GO:0090235)	actin cytoskeleton (GO:0015629)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|mitotic spindle (GO:0072686)|nucleus (GO:0005634)|spindle (GO:0005819)				central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(5)	36		Ovarian(82;0.0272)		UCEC - Uterine corpus endometrioid carcinoma (27;0.134)|OV - Ovarian serous cystadenocarcinoma(56;3.63e-14)		TGGGTGCTCGGCGTACAGCGA	0.627																																						ENST00000406869.1																			0				central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(5)	36						c.(1966-1968)gCc>gTc		MAD1 mitotic arrest deficient-like 1 (yeast)							104	125	118					7																	1937867		2173	4271	6444	SO:0001583	missense	8379				cell division|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase|mitotic prometaphase|mitotic telophase	actin cytoskeleton|centrosome|condensed chromosome kinetochore|cytosol|mitochondrion|nucleus|spindle	protein binding	g.chr7:1937867G>A	U33822	CCDS43539.1	7p22	2013-01-17	2001-11-28		ENSG00000002822	ENSG00000002822			6762	protein-coding gene	gene with protein product		602686	"MAD1 (mitotic arrest deficient, yeast, homolog)-like 1"			10049595, 9546394	Standard	XM_005249876		Approved	HsMAD1, TXBP181, MAD1, PIG9, TP53I9	uc003slg.1	Q9Y6D9	OTTHUMG00000151493	ENST00000406869.1:c.1967C>T	7.37:g.1937867G>A	ENSP00000385334:p.Ala656Val					MAD1L1_ENST00000265854.7_Missense_Mutation_p.A656V|MAD1L1_ENST00000402746.1_Missense_Mutation_p.A564V|MAD1L1_ENST00000399654.2_Missense_Mutation_p.A656V	p.A656V			Q9Y6D9	MD1L1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.134)|OV - Ovarian serous cystadenocarcinoma(56;3.63e-14)	18	2524	-		Ovarian(82;0.0272)	656					B3KR41|Q13312|Q75MI0|Q86UM4|Q9UNH0	Missense_Mutation	SNP	ENST00000406869.1	37	c.1967C>T	CCDS43539.1	.	.	.	.	.	.	.	.	.	.	G	19.23	3.788129	0.70337	.	.	ENSG00000002822	ENST00000402746;ENST00000399654;ENST00000406869;ENST00000442131;ENST00000265854;ENST00000450235;ENST00000437877	T;T;T;T;T;T	0.34859	1.34;1.34;1.34;1.34;1.34;1.34	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	T	0.65133	0.2662	M	0.83774	2.66	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.997;0.997;0.995	T	0.69296	-0.5182	10	0.72032	D	0.01	-23.7528	17.7612	0.88465	0.0:0.0:1.0:0.0	.	655;564;656	A4D218;B3KR41;Q9Y6D9	.;.;MD1L1_HUMAN	V	564;656;656;207;656;207;112	ENSP00000384155:A564V;ENSP00000382562:A656V;ENSP00000385334:A656V;ENSP00000265854:A656V;ENSP00000394886:A207V;ENSP00000394069:A112V	ENSP00000265854:A656V	A	-	2	0	MAD1L1	1904393	1.000000	0.71417	0.658000	0.29665	0.031000	0.12232	9.282000	0.95840	2.623000	0.88846	0.655000	0.94253	GCC		0.627	MAD1L1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322871.1	NM_003550		8	12	0	0	0	1	0	8	12					A	1937867	G	A	1937867	3	1	435	1	0	0	0	0	1	0	0	0	9147	1203	42	3	197	3	MAD1L1	7	1937867	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	329102	1937867	157200796	3462	24387											
MAD1L1	8379	broad.mit.edu	37	chr7	2020131	2020131	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggagaacaggaagctctgttCggcagagctggactgagact	11	7	15	8	1	1	3	0	1	1	3	2	7	1	5	0	4	3	4	0	4	2	1	rs551569137		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:2020131C>T	ENST00000406869.1	-	15	2019	c.1462G>A	c.(1462-1464)Gaa>Aaa	p.E488K	MAD1L1_ENST00000265854.7_Missense_Mutation_p.E488K|MAD1L1_ENST00000402746.1_Missense_Mutation_p.E396K|MAD1L1_ENST00000399654.2_Missense_Mutation_p.E488K			Q9Y6D9	MD1L1_HUMAN	MAD1 mitotic arrest deficient-like 1 (yeast)	488	Necessary for interaction with NEK2.				mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|regulation of metaphase plate congression (GO:0090235)	actin cytoskeleton (GO:0015629)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|mitotic spindle (GO:0072686)|nucleus (GO:0005634)|spindle (GO:0005819)				central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(5)	36		Ovarian(82;0.0272)		UCEC - Uterine corpus endometrioid carcinoma (27;0.134)|OV - Ovarian serous cystadenocarcinoma(56;3.63e-14)		AAGCTCTGTTCGGCAGAGCTG	0.612													C|||	1	0.000199681	0	0	5008	,	,		19902	0		0	False		,,,				2504	0.001					ENST00000406869.1																			0				central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(5)	36						c.(1462-1464)Gaa>Aaa		MAD1 mitotic arrest deficient-like 1 (yeast)							31	35	34					7																	2020131		2026	4168	6194	SO:0001583	missense	8379				cell division|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase|mitotic prometaphase|mitotic telophase	actin cytoskeleton|centrosome|condensed chromosome kinetochore|cytosol|mitochondrion|nucleus|spindle	protein binding	g.chr7:2020131C>T	U33822	CCDS43539.1	7p22	2013-01-17	2001-11-28		ENSG00000002822	ENSG00000002822			6762	protein-coding gene	gene with protein product		602686	"MAD1 (mitotic arrest deficient, yeast, homolog)-like 1"			10049595, 9546394	Standard	XM_005249876		Approved	HsMAD1, TXBP181, MAD1, PIG9, TP53I9	uc003slg.1	Q9Y6D9	OTTHUMG00000151493	ENST00000406869.1:c.1462G>A	7.37:g.2020131C>T	ENSP00000385334:p.Glu488Lys					MAD1L1_ENST00000265854.7_Missense_Mutation_p.E488K|MAD1L1_ENST00000402746.1_Missense_Mutation_p.E396K|MAD1L1_ENST00000399654.2_Missense_Mutation_p.E488K	p.E488K			Q9Y6D9	MD1L1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.134)|OV - Ovarian serous cystadenocarcinoma(56;3.63e-14)	15	2019	-		Ovarian(82;0.0272)	488			Necessary for interaction with NEK2.		B3KR41|Q13312|Q75MI0|Q86UM4|Q9UNH0	Missense_Mutation	SNP	ENST00000406869.1	37	c.1462G>A	CCDS43539.1	.	.	.	.	.	.	.	.	.	.	C	10.63	1.404236	0.25378	.	.	ENSG00000002822	ENST00000402746;ENST00000399654;ENST00000406869;ENST00000442131;ENST00000265854;ENST00000450235;ENST00000438959;ENST00000444373	T;T;T;T;T;D;T	0.82167	1.79;1.79;1.79;1.79;1.79;-1.58;1.79	5.09	4.2	0.49525	.	0.395967	0.29868	N	0.010989	T	0.66665	0.2812	L	0.38838	1.175	0.09310	N	1	P;B;B	0.35077	0.483;0.294;0.22	B;B;B	0.24541	0.054;0.033;0.023	T	0.55379	-0.8150	10	0.07813	T	0.8	-14.4225	8.4982	0.33141	0.0:0.8956:0.0:0.1044	.	487;396;488	A4D218;B3KR41;Q9Y6D9	.;.;MD1L1_HUMAN	K	396;488;488;39;488;39;155;78	ENSP00000384155:E396K;ENSP00000382562:E488K;ENSP00000385334:E488K;ENSP00000265854:E488K;ENSP00000394886:E39K;ENSP00000414877:E155K;ENSP00000393037:E78K	ENSP00000265854:E488K	E	-	1	0	MAD1L1	1986657	0.122000	0.22280	0.037000	0.18230	0.050000	0.14768	3.025000	0.49681	2.368000	0.80403	0.655000	0.94253	GAA		0.612	MAD1L1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322871.1	NM_003550		8	12	0	0	0	1	0	8	12					T	2020131	C	T	2020131	3	4	435	1	0	0	0	0	1	0	0	0	9147	893	31	2	714	2	MAD1L1	7	2020131	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	82264	2020131	157118532	3463	24388											
MAD1L1	8379	broad.mit.edu	37	chr7	2259032	2259032	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tccaggcgcttcacccgcatCtcctggtccatcacgctcca	6	9	7	19	3	3	0	2	0	1	0	7	0	6	0	5	2	0	3	5	2	0	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:2259032C>T	ENST00000406869.1	-	6	1088	c.531G>A	c.(529-531)gaG>gaA	p.E177E	MAD1L1_ENST00000265854.7_Silent_p.E177E|MAD1L1_ENST00000402746.1_Silent_p.E85E|MAD1L1_ENST00000399654.2_Silent_p.E177E			Q9Y6D9	MD1L1_HUMAN	MAD1 mitotic arrest deficient-like 1 (yeast)	177					mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|regulation of metaphase plate congression (GO:0090235)	actin cytoskeleton (GO:0015629)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|mitotic spindle (GO:0072686)|nucleus (GO:0005634)|spindle (GO:0005819)				central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(5)	36		Ovarian(82;0.0272)		UCEC - Uterine corpus endometrioid carcinoma (27;0.134)|OV - Ovarian serous cystadenocarcinoma(56;3.63e-14)		TCACCCGCATCTCCTGGTCCA	0.632																																						ENST00000406869.1																			0				central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(5)	36						c.(529-531)gaG>gaA		MAD1 mitotic arrest deficient-like 1 (yeast)							38	39	38					7																	2259032		2048	4221	6269	SO:0001819	synonymous_variant	8379				cell division|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase|mitotic prometaphase|mitotic telophase	actin cytoskeleton|centrosome|condensed chromosome kinetochore|cytosol|mitochondrion|nucleus|spindle	protein binding	g.chr7:2259032C>T	U33822	CCDS43539.1	7p22	2013-01-17	2001-11-28		ENSG00000002822	ENSG00000002822			6762	protein-coding gene	gene with protein product		602686	"MAD1 (mitotic arrest deficient, yeast, homolog)-like 1"			10049595, 9546394	Standard	XM_005249876		Approved	HsMAD1, TXBP181, MAD1, PIG9, TP53I9	uc003slg.1	Q9Y6D9	OTTHUMG00000151493	ENST00000406869.1:c.531G>A	7.37:g.2259032C>T						MAD1L1_ENST00000265854.7_Silent_p.E177E|MAD1L1_ENST00000402746.1_Silent_p.E85E|MAD1L1_ENST00000399654.2_Silent_p.E177E	p.E177E			Q9Y6D9	MD1L1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.134)|OV - Ovarian serous cystadenocarcinoma(56;3.63e-14)	6	1088	-		Ovarian(82;0.0272)	177					B3KR41|Q13312|Q75MI0|Q86UM4|Q9UNH0	Silent	SNP	ENST00000406869.1	37	c.531G>A	CCDS43539.1																																																																																				0.632	MAD1L1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322871.1	NM_003550		14	17	0	0	0	1	0	14	17					T	2259032	C	T	2259032	2	4	435	1	0	0	0	0	0	0	0	1	9147	912	32	3		3	MAD1L1	7	2259032	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	238901	2259032	156879631	3464	24389											
EIF3B	8662	broad.mit.edu	37	chr7	2409152	2409152	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacataatcgccttctgggtGcctgaagacaaagatattcc	13	10	8	10	1	1	3	0	1	1	2	3	3	2	3	3	1	2	0	3	1	5	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:2409152G>A	ENST00000360876.4	+	10	1505	c.1449G>A	c.(1447-1449)gtG>gtA	p.V483V	EIF3B_ENST00000397011.2_Silent_p.V483V	NM_001037283.1	NP_001032360.1			eukaryotic translation initiation factor 3, subunit B											breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|skin(1)	24		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0833)|OV - Ovarian serous cystadenocarcinoma(56;7.76e-14)		CCTTCTGGGTGCCTGAAGACA	0.473																																						ENST00000360876.4																			0				breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|skin(1)	24						c.(1447-1449)gtG>gtA		eukaryotic translation initiation factor 3, subunit B							202	209	206					7																	2409152		2203	4300	6503	SO:0001819	synonymous_variant	8662				regulation of translational initiation	cytosol|eukaryotic translation initiation factor 3 complex	nucleotide binding|protein complex scaffold|translation initiation factor activity	g.chr7:2409152G>A	U62583	CCDS5332.1	7p22	2013-02-12	2007-07-27	2007-07-27	ENSG00000106263	ENSG00000106263		"RNA binding motif (RRM) containing"	3280	protein-coding gene	gene with protein product		603917	"eukaryotic translation initiation factor 3, subunit 9 eta, 116kDa"	EIF3S9		8995410	Standard	NM_001037283		Approved	PRT1, eIF3b	uc003sly.3	P55884	OTTHUMG00000022839	ENST00000360876.4:c.1449G>A	7.37:g.2409152G>A						EIF3B_ENST00000397011.2_Silent_p.V483V	p.V483V	NM_001037283.1	NP_001032360.1	P55884	EIF3B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0833)|OV - Ovarian serous cystadenocarcinoma(56;7.76e-14)	10	1505	+		Ovarian(82;0.0253)	483						Silent	SNP	ENST00000360876.4	37	c.1449G>A	CCDS5332.1																																																																																				0.473	EIF3B-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207006.1			5	209	0	0	0	1	0	5	209					A	2409152	G	A	2409152	2	1	435	1	0	0	0	0	0	0	0	1	5013	1306	46	3		3	EIF3B	7	2409152	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	150120	2409152	156729511	3465	24390											
LFNG	3955	broad.mit.edu	37	chr7	2564899	2564899	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gccgcccacagccgccaggcGctgtcctgcaagatggccgt	6	5	13	17	4	0	1	0	0	0	1	1	1	1	1	6	2	2	2	6	2	1	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:2564899G>A	ENST00000222725.5	+	3	548	c.528G>A	c.(526-528)gcG>gcA	p.A176A	MIR4648_ENST00000580107.1_RNA|LFNG_ENST00000402045.1_Silent_p.A47A|LFNG_ENST00000338732.3_Silent_p.A47A|LFNG_ENST00000402506.1_Silent_p.A105A|LFNG_ENST00000359574.3_Silent_p.A176A	NM_001040167.1	NP_001035257.1	Q8NES3	LFNG_HUMAN	LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase	176					compartment pattern specification (GO:0007386)|female meiotic division (GO:0007143)|metabolic process (GO:0008152)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|ovarian follicle development (GO:0001541)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of protein binding (GO:0032092)|regulation of Notch signaling pathway (GO:0008593)|regulation of somitogenesis (GO:0014807)|somitogenesis (GO:0001756)	extracellular region (GO:0005576)|integral component of Golgi membrane (GO:0030173)|vesicle (GO:0031982)	metal ion binding (GO:0046872)|O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase activity (GO:0033829)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|ovary(1)|urinary_tract(2)	6		Ovarian(82;0.0112)		OV - Ovarian serous cystadenocarcinoma(56;2.54e-14)		GCCGCCAGGCGCTGTCCTGCA	0.672																																						ENST00000222725.5																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|ovary(1)|urinary_tract(2)	6						c.(526-528)gcG>gcA		LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase							37	39	38					7																	2564899		2202	4300	6502	SO:0001819	synonymous_variant	3955				organ morphogenesis	extracellular region|integral to Golgi membrane	O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase activity	g.chr7:2564899G>A	BC014851	CCDS34586.1, CCDS34587.1, CCDS55081.1, CCDS55082.1	7p22.3	2013-02-19	2006-11-13		ENSG00000106003	ENSG00000106003	2.4.1.222	"Beta 3-glycosyltransferases"	6560	protein-coding gene	gene with protein product		602576	"lunatic fringe (Drosophila) homolog", "lunatic fringe homolog (Drosophila)"			9878264, 9187150	Standard	NM_001166355		Approved	SCDO3	uc003smf.3	Q8NES3	OTTHUMG00000152043	ENST00000222725.5:c.528G>A	7.37:g.2564899G>A						LFNG_ENST00000402045.1_Silent_p.A47A|LFNG_ENST00000359574.3_Silent_p.A176A|LFNG_ENST00000338732.3_Silent_p.A47A|LFNG_ENST00000402506.1_Silent_p.A105A	p.A176A	NM_001040167.1	NP_001035257.1	Q8NES3	LFNG_HUMAN		OV - Ovarian serous cystadenocarcinoma(56;2.54e-14)	3	548	+		Ovarian(82;0.0112)	176					B3KTY6|B5MCR5|O00589|Q96C39|Q9UJW5	Silent	SNP	ENST00000222725.5	37	c.528G>A	CCDS34587.1																																																																																				0.672	LFNG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325021.1	NM_002304		15	7	0	0	0	1	0	15	7					A	2564899	G	A	2564899	2	1	435	1	0	0	0	0	0	0	0	1	8737	1074	38	1		1	LFNG	7	2564899	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	155747	2564899	156573764	3466	24391											
C7orf27	221927	broad.mit.edu	37	chr7	2578022	2578022	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaggtcacaagacttctgcGccacagggcggtcgcagtca	9	6	14	12	3	3	1	2	0	1	1	4	2	3	2	1	4	1	1	1	4	1	1	rs140802292	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:2578022G>A	ENST00000340611.4	-	14	2403	c.2147C>T	c.(2146-2148)gCg>gTg	p.A716V	BRAT1_ENST00000473879.1_5'Flank	NM_152743.3	NP_689956.2	Q6PJG6	BRAT1_HUMAN	BRCA1-associated ATM activator 1	716					response to ionizing radiation (GO:0010212)	membrane (GO:0016020)|nucleus (GO:0005634)		p.A716V(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	23						AGACTTCTGCGCCACAGGGCG	0.627													G|||	4	0.000798722	0.003	0	5008	,	,		18137	0		0	False		,,,				2504	0					ENST00000340611.4																			1	Substitution - Missense(1)	p.A716V(1)	lung(1)	breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	23						c.(2146-2148)gCg>gTg		BRCA1-associated ATM activator 1		G	VAL/ALA	9,4397	15.5+/-35.6	0,9,2194	51	61	58		2147	5.3	1	7	dbSNP_134	58	1,8599	1.2+/-3.3	0,1,4299	yes	missense	BRAT1	NM_152743.3	64	0,10,6493	AA,AG,GG		0.0116,0.2043,0.0769	probably-damaging	716/822	2578022	10,12996	2203	4300	6503	SO:0001583	missense	221927				response to ionizing radiation	nucleus	protein binding	g.chr7:2578022G>A	BC015632	CCDS5334.1	7p22.3	2011-03-22	2011-02-28	2011-03-22	ENSG00000106009	ENSG00000106009			21701	protein-coding gene	gene with protein product	"BRCA1-associated protein required for ATM activation protein 1"	614506	"chromosome 7 open reading frame 27"	C7orf27, BAAT1		16452482	Standard	NM_152743		Approved	MGC22916	uc003smi.3	Q6PJG6	OTTHUMG00000119091	ENST00000340611.4:c.2147C>T	7.37:g.2578022G>A	ENSP00000339637:p.Ala716Val						p.A716V	NM_152743.3	NP_689956.2	Q6PJG6	BRAT1_HUMAN			14	2403	-			716					A4D200|C9JY24|Q8IW85|Q8IZ43|Q8WVR8|Q96IV9|Q9H7J8|Q9UFA3	Missense_Mutation	SNP	ENST00000340611.4	37	c.2147C>T	CCDS5334.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	G	24.2	4.509700	0.85282	0.002043	1.16E-4	ENSG00000106009	ENST00000340611	T	0.37235	1.21	5.27	5.27	0.74061	.	0.214824	0.47093	D	0.000241	T	0.58991	0.2161	M	0.71581	2.175	0.45439	D	0.998418	D	0.89917	1.0	D	0.70016	0.967	T	0.62421	-0.6858	10	0.72032	D	0.01	-31.4975	15.475	0.75471	0.0:0.1487:0.8513:0.0	.	716	Q6PJG6	BRAT1_HUMAN	V	716	ENSP00000339637:A716V	ENSP00000339637:A716V	A	-	2	0	BRAT1	2544548	1.000000	0.71417	0.999000	0.59377	0.927000	0.56198	4.230000	0.58632	2.455000	0.83008	0.561000	0.74099	GCG		0.627	BRAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239305.2	NM_152743		10	15	0	0	0	1	0	10	15					A	2578022	G	A	2578022	3	1	435	1	0	0	0	0	1	0	0	0	2382	1087	38	1	322	1	C7orf27	7	2578022	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	13123	2578022	156560641	3467	24392											
AMZ1	155185	broad.mit.edu	37	chr7	2740187	2740187	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcagcagctgtatgtgtcCgccttctcccctgccgagcg	4	10	11	16	3	1	0	0	0	1	0	3	1	2	0	5	0	5	4	5	0	1	2	rs375738662		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:2740187C>T	ENST00000312371.4	+	2	470	c.102C>T	c.(100-102)tcC>tcT	p.S34S	AMZ1_ENST00000407112.1_Silent_p.S34S	NM_133463.1	NP_597720.1	Q400G9	AMZ1_HUMAN	archaelysin family metallopeptidase 1	34							metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(2)|kidney(1)|large_intestine(4)|lung(8)|skin(1)	16		Ovarian(82;0.0779)		OV - Ovarian serous cystadenocarcinoma(56;5.03e-14)		TGTATGTGTCCGCCTTCTCCC	0.657																																						ENST00000312371.4																			0				breast(2)|kidney(1)|large_intestine(4)|lung(8)|skin(1)	16						c.(100-102)tcC>tcT		archaelysin family metallopeptidase 1		C		1,4405	2.1+/-5.4	0,1,2202	112	120	117		102	-6.6	0	7		117	0,8600		0,0,4300	no	coding-synonymous	AMZ1	NM_133463.1		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		34/499	2740187	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	155185						metallopeptidase activity|zinc ion binding	g.chr7:2740187C>T	AB075830	CCDS34589.1, CCDS64582.1	7p22.3	2008-01-17			ENSG00000174945	ENSG00000174945			22231	protein-coding gene	gene with protein product	"archaemetzincin-1"	615168				15972818	Standard	NM_133463		Approved	KIAA1950	uc003smr.1	Q400G9	OTTHUMG00000152111	ENST00000312371.4:c.102C>T	7.37:g.2740187C>T						AMZ1_ENST00000407112.1_Silent_p.S34S	p.S34S	NM_133463.1	NP_597720.1	Q400G9	AMZ1_HUMAN		OV - Ovarian serous cystadenocarcinoma(56;5.03e-14)	2	470	+		Ovarian(82;0.0779)	34					B3KRS0|Q8TF51	Silent	SNP	ENST00000312371.4	37	c.102C>T	CCDS34589.1																																																																																				0.657	AMZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325244.1	NM_133463		37	60	0	0	0	1	0	37	60					T	2740187	C	T	2740187	2	4	435	1	0	0	0	0	0	0	0	1	596	639	23	2		2	AMZ1	7	2740187	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	162165	2740187	156398476	3468	24393											
AMZ1	155185	broad.mit.edu	37	chr7	2752068	2752068	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgccagcgccgactcgggCatgtgctgtgagagtgactc	6	8	14	13	3	0	2	0	2	0	1	2	4	0	2	3	1	3	2	3	1	0	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:2752068C>T	ENST00000312371.4	+	7	1421	c.1053C>T	c.(1051-1053)ggC>ggT	p.G351G	AMZ1_ENST00000489665.1_Intron|AMZ1_ENST00000407112.1_Missense_Mutation_p.H295Y	NM_133463.1	NP_597720.1	Q400G9	AMZ1_HUMAN	archaelysin family metallopeptidase 1	351							metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(2)|kidney(1)|large_intestine(4)|lung(8)|skin(1)	16		Ovarian(82;0.0779)		OV - Ovarian serous cystadenocarcinoma(56;5.03e-14)		CCGACTCGGGCATGTGCTGTG	0.701																																						ENST00000407112.1																			0				breast(2)|kidney(1)|large_intestine(4)|lung(8)|skin(1)	16						c.(883-885)Cat>Tat		archaelysin family metallopeptidase 1							23	27	26					7																	2752068		2203	4298	6501	SO:0001819	synonymous_variant	155185						metallopeptidase activity|zinc ion binding	g.chr7:2752068C>T	AB075830	CCDS34589.1, CCDS64582.1	7p22.3	2008-01-17			ENSG00000174945	ENSG00000174945			22231	protein-coding gene	gene with protein product	"archaemetzincin-1"	615168				15972818	Standard	NM_133463		Approved	KIAA1950	uc003smr.1	Q400G9	OTTHUMG00000152111	ENST00000312371.4:c.1053C>T	7.37:g.2752068C>T						AMZ1_ENST00000312371.4_Silent_p.G351G|AMZ1_ENST00000489665.1_Intron	p.H295Y			Q400G9	AMZ1_HUMAN		OV - Ovarian serous cystadenocarcinoma(56;5.03e-14)	6	1196	+		Ovarian(82;0.0779)	0					B3KRS0|Q8TF51	Missense_Mutation	SNP	ENST00000312371.4	37	c.883C>T	CCDS34589.1	.	.	.	.	.	.	.	.	.	.	C	5.340	0.248007	0.10130	.	.	ENSG00000174945	ENST00000407112	T	0.35421	1.31	4.85	1.33	0.21861	.	.	.	.	.	T	0.15046	0.0363	.	.	.	0.22330	N	0.999194	B	0.32653	0.379	B	0.31686	0.134	T	0.19353	-1.0308	8	0.02654	T	1	-55.3502	10.0019	0.41933	0.1332:0.2528:0.614:0.0	.	295	B3KRS0	.	Y	295	ENSP00000386020:H295Y	ENSP00000386020:H295Y	H	+	1	0	AMZ1	2718594	0.991000	0.36638	0.603000	0.28903	0.157000	0.22087	0.704000	0.25661	0.443000	0.26582	0.462000	0.41574	CAT		0.701	AMZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325244.1	NM_133463		9	11	0	0	0	1	0	9	11					T	2752068	C	T	2752068	2	4	435	1	0	0	0	0	0	0	0	1	596	697	25	3		3	AMZ1	7	2752068	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	11881	2752068	156386595	3469	24394											
AMZ1	155185	broad.mit.edu	37	chr7	2752321	2752321	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggtggacagagccgtggacGccctcgaccgctgggagatg	8	5	17	11	4	0	2	0	0	0	2	1	6	0	4	3	4	1	1	3	4	0	0	rs201114825		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:2752321G>A	ENST00000312371.4	+	7	1674	c.1306G>A	c.(1306-1308)Gcc>Acc	p.A436T	AMZ1_ENST00000489665.1_Intron|AMZ1_ENST00000407112.1_3'UTR	NM_133463.1	NP_597720.1	Q400G9	AMZ1_HUMAN	archaelysin family metallopeptidase 1	436							metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(2)|kidney(1)|large_intestine(4)|lung(8)|skin(1)	16		Ovarian(82;0.0779)		OV - Ovarian serous cystadenocarcinoma(56;5.03e-14)		AGCCGTGGACGCCCTCGACCG	0.687													G|||	1	0.000199681	0	0	5008	,	,		16447	0.001		0	False		,,,				2504	0					ENST00000312371.4																			0				breast(2)|kidney(1)|large_intestine(4)|lung(8)|skin(1)	16						c.(1306-1308)Gcc>Acc		archaelysin family metallopeptidase 1							48	46	46					7																	2752321		2202	4296	6498	SO:0001583	missense	155185						metallopeptidase activity|zinc ion binding	g.chr7:2752321G>A	AB075830	CCDS34589.1, CCDS64582.1	7p22.3	2008-01-17			ENSG00000174945	ENSG00000174945			22231	protein-coding gene	gene with protein product	"archaemetzincin-1"	615168				15972818	Standard	NM_133463		Approved	KIAA1950	uc003smr.1	Q400G9	OTTHUMG00000152111	ENST00000312371.4:c.1306G>A	7.37:g.2752321G>A	ENSP00000308149:p.Ala436Thr					AMZ1_ENST00000407112.1_3'UTR|AMZ1_ENST00000489665.1_Intron	p.A436T	NM_133463.1	NP_597720.1	Q400G9	AMZ1_HUMAN		OV - Ovarian serous cystadenocarcinoma(56;5.03e-14)	7	1674	+		Ovarian(82;0.0779)	436					B3KRS0|Q8TF51	Missense_Mutation	SNP	ENST00000312371.4	37	c.1306G>A	CCDS34589.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	16.19	3.053721	0.55218	.	.	ENSG00000174945	ENST00000312371	T	0.35789	1.29	4.67	4.67	0.58626	.	0.106321	0.41500	D	0.000862	T	0.36552	0.0971	L	0.54323	1.7	0.80722	D	1	D	0.56746	0.977	B	0.41917	0.37	T	0.43523	-0.9386	10	0.87932	D	0	-26.2647	15.3648	0.74513	0.0:0.0:1.0:0.0	.	436	Q400G9	AMZ1_HUMAN	T	436	ENSP00000308149:A436T	ENSP00000308149:A436T	A	+	1	0	AMZ1	2718847	0.235000	0.23794	0.386000	0.26170	0.080000	0.17528	3.282000	0.51693	2.133000	0.65898	0.462000	0.41574	GCC		0.687	AMZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325244.1	NM_133463		6	12	0	0	0	1	0	6	12					A	2752321	G	A	2752321	3	1	435	1	0	0	0	0	1	0	0	0	596	1087	38	1	1328	1	AMZ1	7	2752321	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	253	2752321	156386342	3470	24395											
CARD11	84433	broad.mit.edu	37	chr7	2959037	2959037	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gggtatggtgcccatatccaGgtcatggtctgtgaaagggt	8	11	15	7	0	2	1	1	1	1	0	3	1	3	1	2	5	1	1	2	5	3	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:2959037G>T	ENST00000396946.4	-	18	2882	c.2479C>A	c.(2479-2481)Ctg>Atg	p.L827M		NM_032415.4	NP_115791.3	Q9BXL7	CAR11_HUMAN	caspase recruitment domain family, member 11	827					Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|nucleotide phosphorylation (GO:0046939)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cytokine production (GO:0001819)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of T cell proliferation (GO:0042102)|regulation of apoptotic process (GO:0042981)|regulation of B cell differentiation (GO:0045577)|regulation of T cell differentiation (GO:0045580)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|thymic T cell selection (GO:0045061)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|immunological synapse (GO:0001772)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	CARD domain binding (GO:0050700)|guanylate kinase activity (GO:0004385)			NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		CCCATATCCAGGTCATGGTCT	0.612			Mis		DLBCL																																	ENST00000396946.4				Dom	yes		7	7p22	84433	Mis	"caspase recruitment domain family, member 11"			L			DLBCL		0				NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150						c.(2479-2481)Ctg>Atg		caspase recruitment domain family, member 11							78	68	71					7																	2959037		2203	4300	6503	SO:0001583	missense	84433				positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway	cytosol|membrane raft|plasma membrane	CARD domain binding|guanylate kinase activity	g.chr7:2959037G>T	AF322641	CCDS5336.2	7p22	2014-09-17			ENSG00000198286	ENSG00000198286			16393	protein-coding gene	gene with protein product	"card-maguk protein 1", "bcl10-interacting maguk protein 3"	607210				11278692, 11356195	Standard	NM_032415		Approved	CARMA1, BIMP3	uc003smv.3	Q9BXL7	OTTHUMG00000023023	ENST00000396946.4:c.2479C>A	7.37:g.2959037G>T	ENSP00000380150:p.Leu827Met						p.L827M	NM_032415.4	NP_115791.3	Q9BXL7	CAR11_HUMAN		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)	18	2882	-		Ovarian(82;0.0115)	827					A4D1Z7|Q2NKN7|Q548H3	Missense_Mutation	SNP	ENST00000396946.4	37	c.2479C>A	CCDS5336.2	.	.	.	.	.	.	.	.	.	.	G	13.73	2.325404	0.41197	.	.	ENSG00000198286	ENST00000396946	T	0.38560	1.13	4.94	4.94	0.65067	.	0.177875	0.38058	N	0.001821	T	0.49729	0.1574	L	0.32530	0.975	0.43588	D	0.995934	D	0.89917	1.0	D	0.81914	0.995	T	0.49000	-0.8984	10	0.56958	D	0.05	-12.5177	9.369	0.38241	0.1606:0.0:0.8394:0.0	.	827	Q9BXL7	CAR11_HUMAN	M	827	ENSP00000380150:L827M	ENSP00000380150:L827M	L	-	1	2	CARD11	2925563	1.000000	0.71417	1.000000	0.80357	0.295000	0.27426	2.761000	0.47589	2.451000	0.82905	0.561000	0.74099	CTG		0.612	CARD11-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059344.4	NM_032415		18	20	1	0	0.00887093	1	0.00896369	18	20					T	2959037	G	T	2959037	3	4	435	1	0	0	0	0	1	0	0	0	2645	991	35	5	1017	5	CARD11	7	2959037	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	206716	2959037	156179626	3471	24396											
CARD11	84433	broad.mit.edu	37	chr7	2962899	2962899	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaggctgtcgccattcagcGtcgtgtgctgcaccgagggc	5	9	15	12	4	1	1	1	1	0	0	3	2	1	1	2	2	3	3	2	2	0	1	rs3735134		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:2962899G>A	ENST00000396946.4	-	16	2412	c.2009C>T	c.(2008-2010)aCg>aTg	p.T670M		NM_032415.4	NP_115791.3	Q9BXL7	CAR11_HUMAN	caspase recruitment domain family, member 11	670	PDZ.		T -> M (in dbSNP:rs3735134).		Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|nucleotide phosphorylation (GO:0046939)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cytokine production (GO:0001819)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of T cell proliferation (GO:0042102)|regulation of apoptotic process (GO:0042981)|regulation of B cell differentiation (GO:0045577)|regulation of T cell differentiation (GO:0045580)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|thymic T cell selection (GO:0045061)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|immunological synapse (GO:0001772)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	CARD domain binding (GO:0050700)|guanylate kinase activity (GO:0004385)			NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		GCCATTCAGCGTCGTGTGCTG	0.657			Mis		DLBCL																																	ENST00000396946.4				Dom	yes		7	7p22	84433	Mis	"caspase recruitment domain family, member 11"			L			DLBCL		0				NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150						c.(2008-2010)aCg>aTg		caspase recruitment domain family, member 11		G	MET/THR	0,4406		0,0,2203	43	46	45		2009	4	0	7	dbSNP_107	45	1,8595		0,1,4297	no	missense	CARD11	NM_032415.4	81	0,1,6500	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	670/1155	2962899	1,13001	2203	4298	6501	SO:0001583	missense	84433				positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway	cytosol|membrane raft|plasma membrane	CARD domain binding|guanylate kinase activity	g.chr7:2962899G>A	AF322641	CCDS5336.2	7p22	2014-09-17			ENSG00000198286	ENSG00000198286			16393	protein-coding gene	gene with protein product	"card-maguk protein 1", "bcl10-interacting maguk protein 3"	607210				11278692, 11356195	Standard	NM_032415		Approved	CARMA1, BIMP3	uc003smv.3	Q9BXL7	OTTHUMG00000023023	ENST00000396946.4:c.2009C>T	7.37:g.2962899G>A	ENSP00000380150:p.Thr670Met						p.T670M	NM_032415.4	NP_115791.3	Q9BXL7	CAR11_HUMAN		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)	16	2412	-		Ovarian(82;0.0115)	670		T -> M (in dbSNP:rs3735134).	PDZ.		A4D1Z7|Q2NKN7|Q548H3	Missense_Mutation	SNP	ENST00000396946.4	37	c.2009C>T	CCDS5336.2	.	.	.	.	.	.	.	.	.	.	G	12.67	2.007869	0.35415	0.0	1.16E-4	ENSG00000198286	ENST00000396946;ENST00000355508	T;T	0.56611	0.45;0.45	4.89	4.01	0.46588	PDZ/DHR/GLGF (1);	0.196824	0.44483	N	0.000450	T	0.24736	0.0600	N	0.08118	0	0.18873	N	0.999986	P	0.36753	0.568	B	0.20955	0.032	T	0.09552	-1.0669	10	0.38643	T	0.18	-16.4286	9.0534	0.36389	0.1708:0.0:0.8292:0.0	rs3735134	670	Q9BXL7	CAR11_HUMAN	M	670;141	ENSP00000380150:T670M;ENSP00000347695:T141M	ENSP00000347695:T141M	T	-	2	0	CARD11	2929425	0.840000	0.29493	0.008000	0.14137	0.004000	0.04260	3.035000	0.49759	1.061000	0.40601	0.555000	0.69702	ACG		0.657	CARD11-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059344.4	NM_032415		12	30	0	0	0	1	0	12	30					A	2962899	G	A	2962899	3	1	435	1	0	0	0	0	1	0	0	0	2645	1145	40	1	1495	1	CARD11	7	2962899	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	3862	2962899	156175764	3472	24397											
CARD11	84433	broad.mit.edu	37	chr7	2978406	2978406	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tcctccagggcctccttgcgGtcgtgttccaagatgtccag	5	11	11	14	2	0	1	0	0	0	1	6	1	5	1	6	2	1	1	6	2	1	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:2978406G>A	ENST00000396946.4	-	7	1327	c.924C>T	c.(922-924)gaC>gaT	p.D308D		NM_032415.4	NP_115791.3	Q9BXL7	CAR11_HUMAN	caspase recruitment domain family, member 11	308					Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|nucleotide phosphorylation (GO:0046939)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cytokine production (GO:0001819)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of T cell proliferation (GO:0042102)|regulation of apoptotic process (GO:0042981)|regulation of B cell differentiation (GO:0045577)|regulation of T cell differentiation (GO:0045580)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|thymic T cell selection (GO:0045061)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|immunological synapse (GO:0001772)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	CARD domain binding (GO:0050700)|guanylate kinase activity (GO:0004385)			NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		CCTCCTTGCGGTCGTGTTCCA	0.647			Mis		DLBCL																																	ENST00000396946.4				Dom	yes		7	7p22	84433	Mis	"caspase recruitment domain family, member 11"			L			DLBCL		0				NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150						c.(922-924)gaC>gaT		caspase recruitment domain family, member 11							82	67	72					7																	2978406		2203	4300	6503	SO:0001819	synonymous_variant	84433				positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway	cytosol|membrane raft|plasma membrane	CARD domain binding|guanylate kinase activity	g.chr7:2978406G>A	AF322641	CCDS5336.2	7p22	2014-09-17			ENSG00000198286	ENSG00000198286			16393	protein-coding gene	gene with protein product	"card-maguk protein 1", "bcl10-interacting maguk protein 3"	607210				11278692, 11356195	Standard	NM_032415		Approved	CARMA1, BIMP3	uc003smv.3	Q9BXL7	OTTHUMG00000023023	ENST00000396946.4:c.924C>T	7.37:g.2978406G>A							p.D308D	NM_032415.4	NP_115791.3	Q9BXL7	CAR11_HUMAN		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)	7	1327	-		Ovarian(82;0.0115)	308					A4D1Z7|Q2NKN7|Q548H3	Silent	SNP	ENST00000396946.4	37	c.924C>T	CCDS5336.2																																																																																				0.647	CARD11-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059344.4	NM_032415		6	25	0	0	0	1	0	6	25					A	2978406	G	A	2978406	2	1	435	1	0	0	0	0	0	0	0	1	2645	1252	44	3		3	CARD11	7	2978406	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	15507	2978406	156160257	3473	24398											
CARD11	84433	broad.mit.edu	37	chr7	2987233	2987233	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcggttgatcttggatggcaGcataggggcattaagcactt	9	12	13	7	1	1	1	0	1	1	0	2	2	1	2	0	5	2	5	0	5	2	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:2987233G>T	ENST00000396946.4	-	3	599	c.196C>A	c.(196-198)Ctg>Atg	p.L66M	AC004906.3_ENST00000423194.1_RNA	NM_032415.4	NP_115791.3	Q9BXL7	CAR11_HUMAN	caspase recruitment domain family, member 11	66	CARD. {ECO:0000255|PROSITE- ProRule:PRU00046}.				Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|nucleotide phosphorylation (GO:0046939)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cytokine production (GO:0001819)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of T cell proliferation (GO:0042102)|regulation of apoptotic process (GO:0042981)|regulation of B cell differentiation (GO:0045577)|regulation of T cell differentiation (GO:0045580)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|thymic T cell selection (GO:0045061)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|immunological synapse (GO:0001772)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	CARD domain binding (GO:0050700)|guanylate kinase activity (GO:0004385)	p.L59L(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		TTGGATGGCAGCATAGGGGCA	0.542			Mis		DLBCL																																	ENST00000396946.4				Dom	yes		7	7p22	84433	Mis	"caspase recruitment domain family, member 11"			L			DLBCL		1	Substitution - coding silent(1)	p.L59L(1)	lung(1)	NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150						c.(196-198)Ctg>Atg		caspase recruitment domain family, member 11							237	176	197					7																	2987233		2203	4300	6503	SO:0001583	missense	84433				positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway	cytosol|membrane raft|plasma membrane	CARD domain binding|guanylate kinase activity	g.chr7:2987233G>T	AF322641	CCDS5336.2	7p22	2014-09-17			ENSG00000198286	ENSG00000198286			16393	protein-coding gene	gene with protein product	"card-maguk protein 1", "bcl10-interacting maguk protein 3"	607210				11278692, 11356195	Standard	NM_032415		Approved	CARMA1, BIMP3	uc003smv.3	Q9BXL7	OTTHUMG00000023023	ENST00000396946.4:c.196C>A	7.37:g.2987233G>T	ENSP00000380150:p.Leu66Met						p.L66M	NM_032415.4	NP_115791.3	Q9BXL7	CAR11_HUMAN		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)	3	599	-		Ovarian(82;0.0115)	66			CARD.		A4D1Z7|Q2NKN7|Q548H3	Missense_Mutation	SNP	ENST00000396946.4	37	c.196C>A	CCDS5336.2	.	.	.	.	.	.	.	.	.	.	G	16.02	3.005494	0.54254	.	.	ENSG00000198286	ENST00000396946;ENST00000356408	T;T	0.22134	1.97;2.05	5.32	3.49	0.39957	DEATH-like (2);Caspase Recruitment (2);	0.068017	0.64402	D	0.000010	T	0.40570	0.1122	L	0.58810	1.83	0.58432	D	0.99999	D	0.76494	0.999	D	0.79108	0.992	T	0.32955	-0.9887	10	0.72032	D	0.01	-23.6429	12.656	0.56788	0.1419:0.0:0.8581:0.0	.	66	Q9BXL7	CAR11_HUMAN	M	66	ENSP00000380150:L66M;ENSP00000348779:L66M	ENSP00000348779:L66M	L	-	1	2	CARD11	2953759	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	4.301000	0.59086	1.403000	0.46800	0.650000	0.86243	CTG		0.542	CARD11-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059344.4	NM_032415		30	52	1	0	1.45844e-13	1	1.58619e-13	30	52					T	2987233	G	T	2987233	3	4	435	1	0	0	0	0	1	0	0	0	2645	962	34	5	3360	5	CARD11	7	2987233	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	8827	2987233	156151430	3474	24399											
SDK1	221935	broad.mit.edu	37	chr7	4198177	4198177	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cagaggcggtgaccacgctgCaggatggtgagcaacccggg	9	4	17	11	3	0	3	0	2	0	1	0	4	0	4	2	5	3	3	2	5	1	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:4198177C>T	ENST00000404826.2	+	31	4862	c.4723C>T	c.(4723-4725)Cag>Tag	p.Q1575*	SDK1_ENST00000389531.3_Nonsense_Mutation_p.Q1575*	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	1575	Fibronectin type-III 9. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		GACCACGCTGCAGGATGGTGA	0.617																																						ENST00000404826.2																			0				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153						c.(4723-4725)Cag>Tag		sidekick cell adhesion molecule 1							78	70	73					7																	4198177		2203	4300	6503	SO:0001587	stop_gained	221935				cell adhesion	integral to membrane		g.chr7:4198177C>T	AK074077	CCDS34590.1	7p22.3	2013-02-11	2011-12-09		ENSG00000146555	ENSG00000146555		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	19307	protein-coding gene	gene with protein product		607216	"sidekick homolog 1 (chicken)", "sidekick homolog 1, cell adhesion molecule (chicken)"			12230981, 17307840, 15213259	Standard	NM_001079653		Approved	FLJ31425	uc003smx.3	Q7Z5N4	OTTHUMG00000151733	ENST00000404826.2:c.4723C>T	7.37:g.4198177C>T	ENSP00000385899:p.Gln1575*					SDK1_ENST00000389531.3_Nonsense_Mutation_p.Q1575*	p.Q1575*	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)	31	4862	+		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)	1575					Q8TEN9|Q8TEP5|Q96N44	Nonsense_Mutation	SNP	ENST00000404826.2	37	c.4723C>T	CCDS34590.1	.	.	.	.	.	.	.	.	.	.	C	47	13.140219	0.99722	.	.	ENSG00000146555	ENST00000404826;ENST00000389531	.	.	.	4.81	4.81	0.61882	.	0.000000	0.64402	D	0.000005	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.33141	T	0.24	.	17.8759	0.88825	0.0:1.0:0.0:0.0	.	.	.	.	X	1575	.	ENSP00000374182:Q1575X	Q	+	1	0	SDK1	4164703	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	7.717000	0.84732	2.210000	0.71456	0.563000	0.77884	CAG		0.617	SDK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323702.1	NM_152744		10	19	0	0	0	1	0	10	19					T	4198177	C	T	4198177	4	4	435	1	0	0	0	0	0	1	0	0	13968	711	25	3	4845	3	SDK1	7	4198177	Nonsense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	1210944	4198177	154940486	3475	24400											
SDK1	221935	broad.mit.edu	37	chr7	4285377	4285377	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atctgcaacaagtacaacggCgccgtgctgaccgagagcgt	11	6	12	12	5	1	2	0	1	1	1	1	3	1	2	2	1	6	3	2	1	4	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:4285377C>T	ENST00000404826.2	+	44	6460	c.6321C>T	c.(6319-6321)ggC>ggT	p.G2107G	SDK1_ENST00000389531.3_Silent_p.G2087G|SDK1_ENST00000466611.1_3'UTR	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	2107					cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		AGTACAACGGCGCCGTGCTGA	0.607																																						ENST00000404826.2																			0				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153						c.(6319-6321)ggC>ggT		sidekick cell adhesion molecule 1							89	77	81					7																	4285377		2203	4300	6503	SO:0001819	synonymous_variant	221935				cell adhesion	integral to membrane		g.chr7:4285377C>T	AK074077	CCDS34590.1	7p22.3	2013-02-11	2011-12-09		ENSG00000146555	ENSG00000146555		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	19307	protein-coding gene	gene with protein product		607216	"sidekick homolog 1 (chicken)", "sidekick homolog 1, cell adhesion molecule (chicken)"			12230981, 17307840, 15213259	Standard	NM_001079653		Approved	FLJ31425	uc003smx.3	Q7Z5N4	OTTHUMG00000151733	ENST00000404826.2:c.6321C>T	7.37:g.4285377C>T						SDK1_ENST00000389531.3_Silent_p.G2087G|SDK1_ENST00000466611.1_3'UTR	p.G2107G	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)	44	6460	+		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)	2107					Q8TEN9|Q8TEP5|Q96N44	Silent	SNP	ENST00000404826.2	37	c.6321C>T	CCDS34590.1																																																																																				0.607	SDK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323702.1	NM_152744		13	17	0	0	0	1	0	13	17					T	4285377	C	T	4285377	2	4	435	1	0	0	0	0	0	0	0	1	13968	755	27	1		1	SDK1	7	4285377	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	87200	4285377	154853286	3476	24401											
KIAA0415	9907	broad.mit.edu	37	chr7	4825902	4825902	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggaagcggctgcagtggactCggaagccgtctaccagcacc	9	5	14	13	3	1	0	0	0	1	0	2	3	1	3	3	4	5	3	3	4	3	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:4825902C>T	ENST00000348624.4	+	10	1248	c.1154C>T	c.(1153-1155)tCg>tTg	p.S385L	AP5Z1_ENST00000401897.1_Missense_Mutation_p.S385L|MIR4656_ENST00000579503.1_RNA	NM_014855.2	NP_055670.1	O43299	AP5Z1_HUMAN	adaptor-related protein complex 5, zeta 1 subunit	385					cell death (GO:0008219)|double-strand break repair via homologous recombination (GO:0000724)|endosomal transport (GO:0016197)|protein transport (GO:0015031)	AP-5 adaptor complex (GO:0044599)|AP-type membrane coat adaptor complex (GO:0030119)|cytoplasm (GO:0005737)|nucleus (GO:0005634)											GCAGTGGACTCGGAAGCCGTC	0.627																																						ENST00000348624.4																			0											c.(1153-1155)tCg>tTg		adaptor-related protein complex 5, zeta 1 subunit							36	43	41					7																	4825902		1978	4137	6115	SO:0001583	missense	9907				cell death|double-strand break repair via homologous recombination	cytoplasm|nucleus	protein binding	g.chr7:4825902C>T	AB007875	CCDS47528.1	7p22.1	2012-03-20	2012-03-20	2012-03-20	ENSG00000242802	ENSG00000242802			22197	protein-coding gene	gene with protein product		613653	"KIAA0415"	KIAA0415		20613862, 22022230	Standard	NM_014855		Approved	SPG48, zeta	uc003sne.3	O43299	OTTHUMG00000151754	ENST00000348624.4:c.1154C>T	7.37:g.4825902C>T	ENSP00000297562:p.Ser385Leu					AP5Z1_ENST00000401897.1_Missense_Mutation_p.S385L	p.S385L	NM_014855.2	NP_055670.1	O43299	K0415_HUMAN			10	1248	+			385					Q8N3X2|Q96H80	Missense_Mutation	SNP	ENST00000348624.4	37	c.1154C>T	CCDS47528.1	.	.	.	.	.	.	.	.	.	.	C	16.64	3.178993	0.57692	.	.	ENSG00000242802	ENST00000348624;ENST00000401897	T;T	0.40225	1.04;1.04	5.29	5.29	0.74685	.	0.384476	0.27595	N	0.018664	T	0.41050	0.1142	M	0.67953	2.075	0.33560	D	0.597283	P	0.34743	0.466	B	0.24701	0.055	T	0.59674	-0.7410	10	0.51188	T	0.08	.	16.0743	0.80958	0.0:1.0:0.0:0.0	.	385	O43299	K0415_HUMAN	L	385	ENSP00000297562:S385L;ENSP00000384980:S385L	ENSP00000297562:S385L	S	+	2	0	KIAA0415	4792428	0.975000	0.34042	0.028000	0.17463	0.961000	0.63080	4.105000	0.57797	2.478000	0.83669	0.561000	0.74099	TCG		0.627	AP5Z1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323771.1			15	16	0	0	0	1	0	15	16					T	4825902	C	T	4825902	3	4	435	1	0	0	0	0	1	0	0	0	8175	893	31	2	1192	2	KIAA0415	7	4825902	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	540525	4825902	154312761	3477	24402											
KIAA0415	9907	broad.mit.edu	37	chr7	4825975	4825975	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agccccatgctggcctttgaAttcatccagttctgcaggga	8	11	10	12	0	2	1	1	1	1	0	3	2	3	2	4	2	3	3	4	2	1	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:4825975A>T	ENST00000348624.4	+	10	1321	c.1227A>T	c.(1225-1227)gaA>gaT	p.E409D	AP5Z1_ENST00000401897.1_Missense_Mutation_p.E409D|MIR4656_ENST00000579503.1_RNA	NM_014855.2	NP_055670.1	O43299	AP5Z1_HUMAN	adaptor-related protein complex 5, zeta 1 subunit	409					cell death (GO:0008219)|double-strand break repair via homologous recombination (GO:0000724)|endosomal transport (GO:0016197)|protein transport (GO:0015031)	AP-5 adaptor complex (GO:0044599)|AP-type membrane coat adaptor complex (GO:0030119)|cytoplasm (GO:0005737)|nucleus (GO:0005634)											TGGCCTTTGAATTCATCCAGT	0.572																																						ENST00000348624.4																			0											c.(1225-1227)gaA>gaT		adaptor-related protein complex 5, zeta 1 subunit							106	117	114					7																	4825975		2032	4181	6213	SO:0001583	missense	9907				cell death|double-strand break repair via homologous recombination	cytoplasm|nucleus	protein binding	g.chr7:4825975A>T	AB007875	CCDS47528.1	7p22.1	2012-03-20	2012-03-20	2012-03-20	ENSG00000242802	ENSG00000242802			22197	protein-coding gene	gene with protein product		613653	"KIAA0415"	KIAA0415		20613862, 22022230	Standard	NM_014855		Approved	SPG48, zeta	uc003sne.3	O43299	OTTHUMG00000151754	ENST00000348624.4:c.1227A>T	7.37:g.4825975A>T	ENSP00000297562:p.Glu409Asp					AP5Z1_ENST00000401897.1_Missense_Mutation_p.E409D	p.E409D	NM_014855.2	NP_055670.1	O43299	K0415_HUMAN			10	1321	+			409					Q8N3X2|Q96H80	Missense_Mutation	SNP	ENST00000348624.4	37	c.1227A>T	CCDS47528.1	.	.	.	.	.	.	.	.	.	.	A	14.08	2.427824	0.43122	.	.	ENSG00000242802	ENST00000348624;ENST00000401897	T;T	0.44881	0.91;0.91	5.29	1.49	0.22878	.	0.060483	0.64402	D	0.000005	T	0.37598	0.1009	M	0.73753	2.245	0.41800	D	0.989912	P	0.38729	0.644	B	0.38264	0.269	T	0.11012	-1.0605	10	0.23302	T	0.38	.	6.8126	0.23812	0.4627:0.0:0.5373:0.0	.	409	O43299	K0415_HUMAN	D	409	ENSP00000297562:E409D;ENSP00000384980:E409D	ENSP00000297562:E409D	E	+	3	2	KIAA0415	4792501	1.000000	0.71417	0.241000	0.24154	0.933000	0.57130	1.065000	0.30592	0.245000	0.21373	-0.252000	0.11476	GAA		0.572	AP5Z1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323771.1			40	61	0	0	0	1	0	40	61					T	4825975	A	T	4825975	3	4	435	1	0	0	0	0	1	0	0	0	8175	98	4	5	1265	5	KIAA0415	7	4825975	Missense_Mutation	SNP	A	TCGA-XK-AAIW-01A-11D-A41K-08	73	4825975	154312688	3478	24403											
KIAA0415	9907	broad.mit.edu	37	chr7	4830482	4830482	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtgctgatgaccacgctgaCgaagctggcctcccggagcc	7	6	13	15	4	0	3	0	3	0	0	1	5	1	4	4	2	3	3	4	2	1	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:4830482C>T	ENST00000348624.4	+	16	2211	c.2117C>T	c.(2116-2118)aCg>aTg	p.T706M	AP5Z1_ENST00000490487.1_3'UTR|MIR4656_ENST00000579503.1_RNA	NM_014855.2	NP_055670.1	O43299	AP5Z1_HUMAN	adaptor-related protein complex 5, zeta 1 subunit	706					cell death (GO:0008219)|double-strand break repair via homologous recombination (GO:0000724)|endosomal transport (GO:0016197)|protein transport (GO:0015031)	AP-5 adaptor complex (GO:0044599)|AP-type membrane coat adaptor complex (GO:0030119)|cytoplasm (GO:0005737)|nucleus (GO:0005634)											ACCACGCTGACGAAGCTGGCC	0.662																																						ENST00000348624.4																			0											c.(2116-2118)aCg>aTg		adaptor-related protein complex 5, zeta 1 subunit							24	27	26					7																	4830482		2053	4180	6233	SO:0001583	missense	9907				cell death|double-strand break repair via homologous recombination	cytoplasm|nucleus	protein binding	g.chr7:4830482C>T	AB007875	CCDS47528.1	7p22.1	2012-03-20	2012-03-20	2012-03-20	ENSG00000242802	ENSG00000242802			22197	protein-coding gene	gene with protein product		613653	"KIAA0415"	KIAA0415		20613862, 22022230	Standard	NM_014855		Approved	SPG48, zeta	uc003sne.3	O43299	OTTHUMG00000151754	ENST00000348624.4:c.2117C>T	7.37:g.4830482C>T	ENSP00000297562:p.Thr706Met					AP5Z1_ENST00000490487.1_3'UTR	p.T706M	NM_014855.2	NP_055670.1	O43299	K0415_HUMAN			16	2211	+			706					Q8N3X2|Q96H80	Missense_Mutation	SNP	ENST00000348624.4	37	c.2117C>T	CCDS47528.1	.	.	.	.	.	.	.	.	.	.	C	16.87	3.242071	0.58995	.	.	ENSG00000242802	ENST00000348624	T	0.64991	-0.13	5.48	5.48	0.80851	Armadillo-like helical (1);	.	.	.	.	T	0.81202	0.4773	M	0.82517	2.595	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.73708	0.981;0.959	T	0.83275	-0.0041	9	0.62326	D	0.03	.	18.3378	0.90294	0.0:1.0:0.0:0.0	.	1417;706	A4D1Z4;O43299	.;K0415_HUMAN	M	706	ENSP00000297562:T706M	ENSP00000297562:T706M	T	+	2	0	KIAA0415	4797008	1.000000	0.71417	0.989000	0.46669	0.045000	0.14185	5.577000	0.67444	2.571000	0.86741	0.549000	0.68633	ACG		0.662	AP5Z1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323771.1			12	9	0	0	0	1	0	12	9					T	4830482	C	T	4830482	3	4	435	1	0	0	0	0	1	0	0	0	8175	536	19	1	2179	1	KIAA0415	7	4830482	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	4507	4830482	154308181	3479	24404											
RADIL	55698	broad.mit.edu	37	chr7	4856948	4856948	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gccatggcctcctcgctggcCgtcagcgtgcaggagaacag	7	6	14	14	3	1	1	1	0	0	1	3	2	2	1	4	3	3	2	4	3	1	0	rs372659155		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:4856948C>T	ENST00000399583.3	-	7	1837	c.1650G>A	c.(1648-1650)acG>acA	p.T550T	RADIL_ENST00000538469.1_Silent_p.T310T|RADIL_ENST00000536091.1_Missense_Mutation_p.G497S	NM_018059.4	NP_060529.4	Q96JH8	RADIL_HUMAN	Ras association and DIL domains	550	Dilute. {ECO:0000255|PROSITE- ProRule:PRU00503}.				multicellular organismal development (GO:0007275)|signal transduction (GO:0007165)|substrate adhesion-dependent cell spreading (GO:0034446)	microtubule (GO:0005874)				NS(1)|biliary_tract(2)|breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(22)|pancreas(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;7.41e-15)		CCTCGCTGGCCGTCAGCGTGC	0.637																																						ENST00000536091.1																			0				NS(1)|biliary_tract(2)|breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(22)|pancreas(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						c.(1489-1491)Ggc>Agc		Ras association and DIL domains		C		0,4402		0,0,2201	50	54	53		1650	-1.9	1	7		53	1,8593	1.2+/-3.3	0,1,4296	no	coding-synonymous	RADIL	NM_018059.4		0,1,6497	TT,TC,CC		0.0116,0.0,0.0077		550/1076	4856948	1,12995	2201	4297	6498	SO:0001819	synonymous_variant	55698				cell adhesion|multicellular organismal development|signal transduction		protein binding	g.chr7:4856948C>T	AB058752	CCDS43544.1	7p22.1	2010-08-27			ENSG00000157927	ENSG00000157927			22226	protein-coding gene	gene with protein product		611491				16051602, 17704304	Standard	NM_018059		Approved	FLJ10324, KIAA1849, RASIP2	uc003snj.1	Q96JH8	OTTHUMG00000151753	ENST00000399583.3:c.1650G>A	7.37:g.4856948C>T						RADIL_ENST00000538469.1_Silent_p.T310T|RADIL_ENST00000399583.3_Silent_p.T550T	p.G497S			Q96JH8	RADIL_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;7.41e-15)	6	1621	-		Ovarian(82;0.0175)	882			Dilute.		A4D1Z5|A5YM49|B7ZL20|Q0VFZ9|Q75LH3|Q9BSP5|Q9H0M6|Q9NW43|Q9NWC4	Missense_Mutation	SNP	ENST00000399583.3	37	c.1489G>A	CCDS43544.1	.	.	.	.	.	.	.	.	.	.	c	11.60	1.686946	0.29962	0.0	1.16E-4	ENSG00000157927	ENST00000536091	T	0.25250	1.81	5.7	-1.93	0.07594	.	.	.	.	.	T	0.30885	0.0779	.	.	.	0.24232	N	0.995393	.	.	.	.	.	.	T	0.43130	-0.9410	6	0.87932	D	0	-24.319	12.089	0.53715	0.0:0.5129:0.0:0.4871	.	.	.	.	S	497	ENSP00000442533:G497S	ENSP00000442533:G497S	G	-	1	0	RADIL	4823474	0.487000	0.25988	0.989000	0.46669	0.489000	0.33432	-0.235000	0.09016	-0.211000	0.10124	-0.461000	0.05368	GGC		0.637	RADIL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323769.2	NM_018059		10	21	0	0	0	1	0	10	21					T	4856948	C	T	4856948	2	4	435	1	0	0	0	0	0	0	0	1	12997	639	23	2		2	RADIL	7	4856948	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	26466	4856948	154281715	3480	24405											
PAPOLB	56903	broad.mit.edu	37	chr7	4901260	4901260	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tttccaaaactaaaatcctgCgctgcagttcctcttcctct	9	14	4	14	1	2	0	0	0	2	0	6	0	6	0	4	0	3	3	4	0	4	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:4901260C>T	ENST00000404991.1	-	1	365	c.179G>A	c.(178-180)cGc>cAc	p.R60H	RADIL_ENST00000399583.3_Intron|RADIL_ENST00000536091.1_Intron	NM_020144.4	NP_064529.4	Q9NRJ5	PAPOB_HUMAN	poly(A) polymerase beta (testis specific)	60					mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|termination of RNA polymerase II transcription (GO:0006369)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|polynucleotide adenylyltransferase activity (GO:0004652)|RNA binding (GO:0003723)			kidney(1)|large_intestine(6)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	14		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.089)|OV - Ovarian serous cystadenocarcinoma(56;2.06e-14)		TAAAATCCTGCGCTGCAGTTC	0.473																																						ENST00000404991.1																			0				kidney(1)|large_intestine(6)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	14						c.(178-180)cGc>cAc		poly(A) polymerase beta (testis specific)							36	35	36					7																	4901260		1906	4152	6058	SO:0001583	missense	56903				mRNA processing|RNA polyadenylation|transcription, DNA-dependent	nucleus	ATP binding|metal ion binding|polynucleotide adenylyltransferase activity|RNA binding	g.chr7:4901260C>T	AF218840		7p22.1	2008-02-08			ENSG00000218823	ENSG00000218823	2.7.7.19		15970	protein-coding gene	gene with protein product		607436				11150526	Standard	NM_020144		Approved	PAPT	uc003snk.3	Q9NRJ5	OTTHUMG00000151759	ENST00000404991.1:c.179G>A	7.37:g.4901260C>T	ENSP00000384700:p.Arg60His					RADIL_ENST00000536091.1_Intron|RADIL_ENST00000399583.3_Intron	p.R60H	NM_020144.4	NP_064529.4	Q9NRJ5	PAPOB_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.089)|OV - Ovarian serous cystadenocarcinoma(56;2.06e-14)	1	365	-		Ovarian(82;0.0175)	60					Q75LH1|Q8NE14	Missense_Mutation	SNP	ENST00000404991.1	37	c.179G>A		.	.	.	.	.	.	.	.	.	.	C	0.011	-1.715214	0.00706	.	.	ENSG00000218823	ENST00000404991	.	.	.	4.13	2.33	0.28932	.	.	.	.	.	T	0.15609	0.0376	N	0.02181	-0.65	0.39232	D	0.96369	B	0.09022	0.002	B	0.04013	0.001	T	0.25082	-1.0142	8	0.02654	T	1	.	6.6633	0.23027	0.0:0.7863:0.0:0.2137	.	61	A4D1Z6	.	H	60	.	ENSP00000384700:R60H	R	-	2	0	PAPOLB	4867786	1.000000	0.71417	0.989000	0.46669	0.575000	0.36095	3.032000	0.49736	0.709000	0.31976	-0.136000	0.14681	CGC		0.473	PAPOLB-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000323797.1	NM_020144		8	25	0	0	0	1	0	8	25					T	4901260	C	T	4901260	3	4	435	1	0	0	0	0	1	0	0	0	11430	768	27	1	1735	1	PAPOLB	7	4901260	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	44312	4901260	154237403	3481	24406											
RADIL	55698	broad.mit.edu	37	chr7	4917279	4917279	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttggctgccagctcctccacGtccgacctcttcctcagctc	4	11	7	19	2	2	0	1	0	1	0	7	1	6	0	6	1	3	3	6	1	0	2	rs192745293	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:4917279G>A	ENST00000399583.3	-	2	679	c.492C>T	c.(490-492)gaC>gaT	p.D164D	RADIL_ENST00000536091.1_Silent_p.D164D	NM_018059.4	NP_060529.4	Q96JH8	RADIL_HUMAN	Ras association and DIL domains	164	Ras-associating. {ECO:0000255|PROSITE- ProRule:PRU00166}.				multicellular organismal development (GO:0007275)|signal transduction (GO:0007165)|substrate adhesion-dependent cell spreading (GO:0034446)	microtubule (GO:0005874)				NS(1)|biliary_tract(2)|breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(22)|pancreas(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;7.41e-15)		GCTCCTCCACGTCCGACCTCT	0.597													G|||	3	0.000599042	0	0.0029	5008	,	,		17871	0		0.001	False		,,,				2504	0					ENST00000399583.3																			0				NS(1)|biliary_tract(2)|breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(22)|pancreas(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						c.(490-492)gaC>gaT		Ras association and DIL domains		G		0,4150		0,0,2075	59	72	67		492	-4.2	0.8	7		67	1,8397		0,1,4198	no	coding-synonymous	RADIL	NM_018059.4		0,1,6273	AA,AG,GG		0.0119,0.0,0.0080		164/1076	4917279	1,12547	2075	4199	6274	SO:0001819	synonymous_variant	55698				cell adhesion|multicellular organismal development|signal transduction		protein binding	g.chr7:4917279G>A	AB058752	CCDS43544.1	7p22.1	2010-08-27			ENSG00000157927	ENSG00000157927			22226	protein-coding gene	gene with protein product		611491				16051602, 17704304	Standard	NM_018059		Approved	FLJ10324, KIAA1849, RASIP2	uc003snj.1	Q96JH8	OTTHUMG00000151753	ENST00000399583.3:c.492C>T	7.37:g.4917279G>A						RADIL_ENST00000536091.1_Silent_p.D164D	p.D164D	NM_018059.4	NP_060529.4	Q96JH8	RADIL_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;7.41e-15)	2	679	-		Ovarian(82;0.0175)	164			Ras-associating.		A4D1Z5|A5YM49|B7ZL20|Q0VFZ9|Q75LH3|Q9BSP5|Q9H0M6|Q9NW43|Q9NWC4	Silent	SNP	ENST00000399583.3	37	c.492C>T	CCDS43544.1																																																																																				0.597	RADIL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323769.2	NM_018059		8	19	0	0	0	1	0	8	19					A	4917279	G	A	4917279	2	1	435	1	0	0	0	0	0	0	0	1	12997	1136	40	1		1	RADIL	7	4917279	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	16019	4917279	154221384	3482	24407											
RADIL	55698	broad.mit.edu	37	chr7	4917398	4917398	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaagcaccgggcctgccaccGctgcccagcatcgccggctt	7	5	11	18	4	0	0	0	0	0	0	1	0	0	0	6	2	4	4	6	2	1	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:4917398G>A	ENST00000399583.3	-	2	560	c.373C>T	c.(373-375)Cgg>Tgg	p.R125W	RADIL_ENST00000536091.1_Missense_Mutation_p.R125W	NM_018059.4	NP_060529.4	Q96JH8	RADIL_HUMAN	Ras association and DIL domains	125	Ras-associating. {ECO:0000255|PROSITE- ProRule:PRU00166}.				multicellular organismal development (GO:0007275)|signal transduction (GO:0007165)|substrate adhesion-dependent cell spreading (GO:0034446)	microtubule (GO:0005874)				NS(1)|biliary_tract(2)|breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(22)|pancreas(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;7.41e-15)		GCCTGCCACCGCTGCCCAGCA	0.637																																						ENST00000399583.3																			0				NS(1)|biliary_tract(2)|breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(22)|pancreas(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						c.(373-375)Cgg>Tgg		Ras association and DIL domains							46	53	51					7																	4917398		2013	4161	6174	SO:0001583	missense	55698				cell adhesion|multicellular organismal development|signal transduction		protein binding	g.chr7:4917398G>A	AB058752	CCDS43544.1	7p22.1	2010-08-27			ENSG00000157927	ENSG00000157927			22226	protein-coding gene	gene with protein product		611491				16051602, 17704304	Standard	NM_018059		Approved	FLJ10324, KIAA1849, RASIP2	uc003snj.1	Q96JH8	OTTHUMG00000151753	ENST00000399583.3:c.373C>T	7.37:g.4917398G>A	ENSP00000382492:p.Arg125Trp					RADIL_ENST00000536091.1_Missense_Mutation_p.R125W	p.R125W	NM_018059.4	NP_060529.4	Q96JH8	RADIL_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;7.41e-15)	2	560	-		Ovarian(82;0.0175)	125			Ras-associating.		A4D1Z5|A5YM49|B7ZL20|Q0VFZ9|Q75LH3|Q9BSP5|Q9H0M6|Q9NW43|Q9NWC4	Missense_Mutation	SNP	ENST00000399583.3	37	c.373C>T	CCDS43544.1	.	.	.	.	.	.	.	.	.	.	G	12.59	1.983110	0.34942	.	.	ENSG00000157927	ENST00000399583;ENST00000316919;ENST00000536091;ENST00000457174	T;T;T	0.31769	1.86;1.86;1.48	5.62	3.77	0.43336	Ras-association (3);	1.303560	0.04693	N	0.414454	T	0.43743	0.1261	L	0.36672	1.1	0.09310	N	0.999998	D	0.71674	0.998	P	0.57846	0.828	T	0.32161	-0.9917	10	0.66056	D	0.02	-8.4333	10.4363	0.44437	0.0:0.2749:0.5827:0.1424	.	125	Q96JH8	RADIL_HUMAN	W	125;99;125;125	ENSP00000382492:R125W;ENSP00000442533:R125W;ENSP00000398057:R125W	ENSP00000320946:R99W	R	-	1	2	RADIL	4883924	0.289000	0.24334	0.004000	0.12327	0.024000	0.10985	1.768000	0.38511	0.692000	0.31613	0.561000	0.74099	CGG		0.637	RADIL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323769.2	NM_018059		6	55	0	0	0	1	0	6	55					A	4917398	G	A	4917398	3	1	435	1	0	0	0	0	1	0	0	0	12997	1086	38	1	2910	1	RADIL	7	4917398	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	119	4917398	154221265	3483	24408											
TNRC18	84629	broad.mit.edu	37	chr7	5413695	5413695	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgcatcctacctgagaacaGggcctggaaggggctggggg	8	6	17	10	0	0	1	0	1	0	1	1	3	1	2	3	6	3	2	3	6	3	1	rs554534252		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:5413695G>T	ENST00000430969.1	-	10	3568	c.3220C>A	c.(3220-3222)Ctg>Atg	p.L1074M	TNRC18_ENST00000399537.4_Missense_Mutation_p.L1074M	NM_001080495.2	NP_001073964.2	O15417	TNC18_HUMAN	trinucleotide repeat containing 18	1074	Pro-rich.						chromatin binding (GO:0003682)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)	11		Ovarian(82;0.142)		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)		CCTGAGAACAGGGCCTGGAAG	0.582																																						ENST00000399537.4																			0				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)	11						c.(3220-3222)Ctg>Atg		trinucleotide repeat containing 18							29	34	32					7																	5413695		1955	4141	6096	SO:0001583	missense	84629						DNA binding	g.chr7:5413695G>T	U80753	CCDS47534.1	7p22.1	2012-04-17			ENSG00000182095	ENSG00000182095		"Trinucleotide (CAG) repeat containing"	11962	protein-coding gene	gene with protein product						9225980	Standard	NM_001080495		Approved	CAGL79, TNRC18A, KIAA1856	uc003soi.4	O15417	OTTHUMG00000151831	ENST00000430969.1:c.3220C>A	7.37:g.5413695G>T	ENSP00000395538:p.Leu1074Met					TNRC18_ENST00000430969.1_Missense_Mutation_p.L1074M	p.L1074M			O15417	TNC18_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)	10	3568	-		Ovarian(82;0.142)	1074			Pro-rich.		A8MX41|Q96JH1|Q96K91	Missense_Mutation	SNP	ENST00000430969.1	37	c.3220C>A	CCDS47534.1	.	.	.	.	.	.	.	.	.	.	G	3.337	-0.135359	0.06711	.	.	ENSG00000182095	ENST00000399537;ENST00000430969;ENST00000399544;ENST00000327499	T;T	0.19394	2.16;2.15	4.94	-0.344	0.12628	.	.	.	.	.	T	0.27313	0.0670	M	0.65498	2.005	0.23468	N	0.997617	P	0.47350	0.894	P	0.47044	0.535	T	0.14727	-1.0462	9	0.52906	T	0.07	.	9.0218	0.36204	0.5846:0.0:0.4154:0.0	.	1074	O15417	TNC18_HUMAN	M	1074;1074;129;129	ENSP00000382452:L1074M;ENSP00000395538:L1074M	ENSP00000330383:L129M	L	-	1	2	TNRC18	5380221	0.869000	0.29996	0.988000	0.46212	0.224000	0.24922	-0.005000	0.12855	-0.276000	0.09206	-0.439000	0.05793	CTG		0.582	TNRC18-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding				9	17	1	0	1.12685e-05	1	1.16601e-05	9	17					T	5413695	G	T	5413695	3	4	435	1	0	0	0	0	1	0	0	0	16336	991	35	5	5770	5	TNRC18	7	5413695	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	496297	5413695	153724968	3484	24409											
FBXL18	80028	broad.mit.edu	37	chr7	5541110	5541110	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agggacggagatgaggaaggCgtggaggttctgaggagtgc	10	6	21	4	2	1	3	0	2	1	1	1	8	1	7	0	7	1	1	0	7	1	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:5541110C>T	ENST00000382368.3	-	3	913	c.790G>A	c.(790-792)Gcc>Acc	p.A264T	FBXL18_ENST00000453700.3_Missense_Mutation_p.A264T	NM_024963.4	NP_079239.3	Q96ME1	FXL18_HUMAN	F-box and leucine-rich repeat protein 18	264									FBXL18/RNF216(2)	central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(3)	21		Ovarian(82;0.0607)		UCEC - Uterine corpus endometrioid carcinoma (126;0.181)|OV - Ovarian serous cystadenocarcinoma(56;3.64e-13)		ATGAGGAAGGCGTGGAGGTTC	0.652																																						ENST00000382368.3																		FBXL18/RNF216(2)	0				central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(3)	21						c.(790-792)Gcc>Acc		F-box and leucine-rich repeat protein 18							41	48	46					7																	5541110		2127	4225	6352	SO:0001583	missense	80028							g.chr7:5541110C>T	AK057042	CCDS43546.1	7p22.2	2011-06-09			ENSG00000155034	ENSG00000155034		"F-boxes / Leucine-rich repeats"	21874	protein-coding gene	gene with protein product		609084					Standard	NM_024963		Approved	FLJ11467, Fbl18	uc003son.4	Q96ME1	OTTHUMG00000151832	ENST00000382368.3:c.790G>A	7.37:g.5541110C>T	ENSP00000371805:p.Ala264Thr					FBXL18_ENST00000453700.3_Missense_Mutation_p.A264T	p.A264T	NM_024963.4	NP_079239.3	Q96ME1	FXL18_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.181)|OV - Ovarian serous cystadenocarcinoma(56;3.64e-13)	3	913	-		Ovarian(82;0.0607)	264					Q9BR90|Q9BTC7|Q9HAK7	Missense_Mutation	SNP	ENST00000382368.3	37	c.790G>A	CCDS43546.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.183657	0.78677	.	.	ENSG00000155034	ENST00000382368;ENST00000312577;ENST00000453700	T;T	0.51817	0.73;0.69	5.54	5.54	0.83059	.	0.218482	0.47093	D	0.000243	T	0.29223	0.0727	N	0.19112	0.55	0.43814	D	0.996375	P;P	0.43314	0.803;0.803	B;B	0.28849	0.095;0.095	T	0.10917	-1.0609	10	0.19147	T	0.46	.	18.4757	0.90791	0.0:1.0:0.0:0.0	.	264;264	F5H4Z4;Q96ME1-4	.;.	T	264	ENSP00000371805:A264T;ENSP00000444797:A264T	ENSP00000311990:A264T	A	-	1	0	FBXL18	5507636	1.000000	0.71417	0.999000	0.59377	0.903000	0.53119	4.892000	0.63193	2.615000	0.88500	0.655000	0.94253	GCC		0.652	FBXL18-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324093.1	NM_024963		12	12	0	0	0	1	0	12	12					T	5541110	C	T	5541110	3	4	435	1	0	0	0	0	1	0	0	0	5714	768	27	1	1378	1	FBXL18	7	5541110	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	127415	5541110	153597553	3485	24410											
FBXL18	80028	broad.mit.edu	37	chr7	5541627	5541627	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgctggatctcccggccgatCtccttcaccagctgcctcac	5	10	8	18	2	4	0	2	0	2	0	6	2	4	1	5	2	3	2	5	2	0	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:5541627C>T	ENST00000382368.3	-	3	396	c.273G>A	c.(271-273)gaG>gaA	p.E91E	FBXL18_ENST00000453700.3_Silent_p.E91E	NM_024963.4	NP_079239.3	Q96ME1	FXL18_HUMAN	F-box and leucine-rich repeat protein 18	91									FBXL18/RNF216(2)	central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(3)	21		Ovarian(82;0.0607)		UCEC - Uterine corpus endometrioid carcinoma (126;0.181)|OV - Ovarian serous cystadenocarcinoma(56;3.64e-13)		CCCGGCCGATCTCCTTCACCA	0.652																																						ENST00000382368.3																		FBXL18/RNF216(2)	0				central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(3)	21						c.(271-273)gaG>gaA		F-box and leucine-rich repeat protein 18							14	17	16					7																	5541627		2089	4215	6304	SO:0001819	synonymous_variant	80028							g.chr7:5541627C>T	AK057042	CCDS43546.1	7p22.2	2011-06-09			ENSG00000155034	ENSG00000155034		"F-boxes / Leucine-rich repeats"	21874	protein-coding gene	gene with protein product		609084					Standard	NM_024963		Approved	FLJ11467, Fbl18	uc003son.4	Q96ME1	OTTHUMG00000151832	ENST00000382368.3:c.273G>A	7.37:g.5541627C>T						FBXL18_ENST00000453700.3_Silent_p.E91E	p.E91E	NM_024963.4	NP_079239.3	Q96ME1	FXL18_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.181)|OV - Ovarian serous cystadenocarcinoma(56;3.64e-13)	3	396	-		Ovarian(82;0.0607)	91					Q9BR90|Q9BTC7|Q9HAK7	Silent	SNP	ENST00000382368.3	37	c.273G>A	CCDS43546.1																																																																																				0.652	FBXL18-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324093.1	NM_024963		6	6	0	0	0	1	0	6	6					T	5541627	C	T	5541627	2	4	435	1	0	0	0	0	0	0	0	1	5714	912	32	3		3	FBXL18	7	5541627	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	517	5541627	153597036	3486	24411											
ACTB	60	broad.mit.edu	37	chr7	5568090	5568090	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttctccttaatgtcacgcacGatttcccgctcggccgtggt	5	13	9	14	5	2	0	1	0	1	0	5	1	3	0	3	2	0	2	3	2	1	3	rs144865943	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:5568090G>A	ENST00000331789.5	-	4	815	c.624C>T	c.(622-624)atC>atT	p.I208I	AC006483.1_ENST00000579427.1_RNA|ACTB_ENST00000464611.1_5'Flank	NM_001101.3	NP_001092.1	P63261	ACTG_HUMAN	actin, beta	208					adherens junction organization (GO:0034332)|axon guidance (GO:0007411)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cellular component movement (GO:0006928)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane organization (GO:0061024)|platelet aggregation (GO:0070527)|retina homeostasis (GO:0001895)|sarcomere organization (GO:0045214)	blood microparticle (GO:0072562)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|membrane (GO:0016020)|myofibril (GO:0030016)|nucleus (GO:0005634)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|central_nervous_system(1)|large_intestine(2)|lung(2)|prostate(2)	8		Ovarian(82;0.0606)		UCEC - Uterine corpus endometrioid carcinoma (126;0.175)|OV - Ovarian serous cystadenocarcinoma(56;4.24e-37)		TGTCACGCACGATTTCCCGCT	0.612													G|||	2	0.000399361	8e-04	0	5008	,	,		22592	0		0.001	False		,,,				2504	0					ENST00000331789.5																			0				NS(1)|central_nervous_system(1)|large_intestine(2)|lung(2)|prostate(2)	8						c.(622-624)atC>atT		actin, beta							66	67	67					7																	5568090		2203	4300	6503	SO:0001819	synonymous_variant	60				'de novo' posttranslational protein folding|adherens junction organization|axon guidance|blood coagulation|cell junction assembly|cellular component movement	cytoskeleton|cytosol|MLL5-L complex|NuA4 histone acetyltransferase complex|ribonucleoprotein complex	ATP binding|kinesin binding|nitric-oxide synthase binding|structural constituent of cytoskeleton	g.chr7:5568090G>A	M28424	CCDS5341.1	7p22	2014-09-17			ENSG00000075624	ENSG00000075624			132	protein-coding gene	gene with protein product		102630				1505215	Standard	NM_001101		Approved		uc003sot.4	P60709	OTTHUMG00000023268	ENST00000331789.5:c.624C>T	7.37:g.5568090G>A							p.I208I	NM_001101.3	NP_001092.1	P60709	ACTB_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.175)|OV - Ovarian serous cystadenocarcinoma(56;4.24e-37)	4	815	-		Ovarian(82;0.0606)	208					A8K7C2|P02571|P14104|P99022|Q5U032|Q96E67	Silent	SNP	ENST00000331789.5	37	c.624C>T	CCDS5341.1																																																																																				0.612	ACTB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059589.4	NM_001101		31	46	0	0	0	1	0	31	46					A	5568090	G	A	5568090	2	1	435	1	0	0	0	0	0	0	0	1	193	1048	37	2		2	ACTB	7	5568090	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	26463	5568090	153570573	3487	24412											
FSCN1	6624	broad.mit.edu	37	chr7	5643653	5643653	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gttcaacgatggcgcctacaAcatcaaaggcaggttctcct	11	9	9	12	2	3	0	2	0	1	0	4	1	3	0	2	3	3	3	2	3	4	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:5643653A>C	ENST00000382361.3	+	4	1385	c.1271A>C	c.(1270-1272)aAc>aCc	p.N424T	FSCN1_ENST00000340250.6_Missense_Mutation_p.N403T	NM_003088.3	NP_003079.1	Q16658	FSCN1_HUMAN	fascin actin-bundling protein 1	424					actin cytoskeleton organization (GO:0030036)|actin filament bundle assembly (GO:0051017)|cell migration (GO:0016477)|cell motility (GO:0048870)|cell proliferation (GO:0008283)	actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|invadopodium (GO:0071437)|stress fiber (GO:0001725)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|drug binding (GO:0008144)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|kidney(3)|large_intestine(1)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	9		Ovarian(82;0.0694)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;1.21e-13)		GGCGCCTACAACATCAAAGGC	0.647																																						ENST00000382361.3																			0				central_nervous_system(1)|kidney(3)|large_intestine(1)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	9						c.(1270-1272)aAc>aCc		fascin homolog 1, actin-bundling protein (Strongylocentrotus purpuratus)							67	56	59					7																	5643653		2203	4300	6503	SO:0001583	missense	6624				actin filament bundle assembly|cell migration|cell proliferation	cell junction|cytoplasm|filopodium|invadopodium|stress fiber	actin filament binding|drug binding|protein binding, bridging	g.chr7:5643653A>C	U03057	CCDS5342.1	7p22	2014-02-03	2014-02-03	2002-09-20	ENSG00000075618	ENSG00000075618		"Fascins"	11148	protein-coding gene	gene with protein product	"Singed, drosophila, homolog-like", "actin bundling protein"	602689	"singed (Drosophila)-like (sea urchin fascin homolog like)", "fascin homolog 1, actin-bundling protein (Strongylocentrotus purpuratus)"	SNL		8068206, 10783262	Standard	NM_003088		Approved	p55, FLJ38511	uc003sou.3	Q16658	OTTHUMG00000090599	ENST00000382361.3:c.1271A>C	7.37:g.5643653A>C	ENSP00000371798:p.Asn424Thr					FSCN1_ENST00000340250.6_Missense_Mutation_p.N403T	p.N424T	NM_003088.3	NP_003079.1	Q16658	FSCN1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;1.21e-13)	4	1385	+		Ovarian(82;0.0694)	424					A6NI89|B2RE97|Q96IC5|Q96IH1|Q9BRF1	Missense_Mutation	SNP	ENST00000382361.3	37	c.1271A>C	CCDS5342.1	.	.	.	.	.	.	.	.	.	.	A	7.976	0.750038	0.15778	.	.	ENSG00000075618	ENST00000340250;ENST00000382361;ENST00000535097	T;T	0.40225	1.04;1.04	4.43	4.43	0.53597	Fascin domain (1);Actin cross-linking (1);	0.254163	0.37857	U	0.001902	T	0.31857	0.0810	N	0.19112	0.55	0.40721	D	0.982663	P;P	0.46220	0.469;0.874	B;P	0.46172	0.36;0.506	T	0.19943	-1.0290	10	0.87932	D	0	-12.7877	7.7585	0.28938	0.9044:0.0:0.0956:0.0	.	403;424	B3KTA3;Q16658	.;FSCN1_HUMAN	T	403;424;146	ENSP00000339729:N403T;ENSP00000371798:N424T	ENSP00000339729:N403T	N	+	2	0	FSCN1	5610179	1.000000	0.71417	1.000000	0.80357	0.625000	0.37756	2.810000	0.47979	1.623000	0.50342	0.368000	0.22195	AAC		0.647	FSCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207153.3	NM_003088		7	11	0	0	0	1	0	7	11					C	5643653	A	C	5643653	3	2	435	1	0	0	0	0	1	0	0	0	6067	43	2	5	1285	5	FSCN1	7	5643653	Missense_Mutation	SNP	A	TCGA-XK-AAIW-01A-11D-A41K-08	75563	5643653	153495010	3488	24413											
RNF216	54476	broad.mit.edu	37	chr7	5662580	5662580	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	accgaagtcatagttgacccGcacgttgggcagagggggca	10	6	15	10	3	1	2	1	1	0	1	1	3	1	2	2	3	0	5	2	3	2	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:5662580G>A	ENST00000425013.2	-	17	2736	c.2512C>T	c.(2512-2514)Cgg>Tgg	p.R838W	RNF216_ENST00000389902.3_Missense_Mutation_p.R895W|RNF216_ENST00000469375.1_5'UTR	NM_207111.3|NM_207116.2	NP_996994.1|NP_996999.1	Q9NWF9	RN216_HUMAN	ring finger protein 216	838	Pro-rich.				apoptotic process (GO:0006915)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K48-linked ubiquitination (GO:0070936)|regulation of defense response to virus by host (GO:0050691)|regulation of interferon-beta production (GO:0032648)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)	p.R895W(1)	FBXL18/RNF216(2)	breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)|skin(1)|urinary_tract(4)	33		Ovarian(82;0.07)		UCEC - Uterine corpus endometrioid carcinoma (126;0.135)|OV - Ovarian serous cystadenocarcinoma(56;2.69e-13)		TAGTTGACCCGCACGTTGGGC	0.642																																						ENST00000425013.2																		FBXL18/RNF216(2)	1	Substitution - Missense(1)	p.R895W(1)	endometrium(1)	breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)|skin(1)|urinary_tract(4)	33						c.(2512-2514)Cgg>Tgg		ring finger protein 216							102	109	107					7																	5662580		2203	4300	6503	SO:0001583	missense	54476				apoptosis|interspecies interaction between organisms|proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked ubiquitination|regulation of defense response to virus by host|regulation of interferon-beta production	cytoplasm|nucleus	ligase activity|protein binding|zinc ion binding	g.chr7:5662580G>A	AY062174	CCDS34594.1, CCDS34595.1	7p22.1	2014-02-12	2007-08-20		ENSG00000011275	ENSG00000011275		"RING-type (C3HC4) zinc fingers"	21698	protein-coding gene	gene with protein product		609948					Standard	NM_207111		Approved	TRIAD3, UBCE7IP1, ZIN	uc003sox.2	Q9NWF9	OTTHUMG00000155500	ENST00000425013.2:c.2512C>T	7.37:g.5662580G>A	ENSP00000404602:p.Arg838Trp					RNF216_ENST00000389902.3_Missense_Mutation_p.R895W|RNF216_ENST00000469375.1_5'UTR	p.R838W	NM_207111.3|NM_207116.2	NP_996994.1|NP_996999.1	Q9NWF9	RN216_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.135)|OV - Ovarian serous cystadenocarcinoma(56;2.69e-13)	17	2736	-		Ovarian(82;0.07)	838			Pro-rich.		Q6Y691|Q75ML7|Q7Z2H7|Q7Z7C1|Q8NHW7|Q9NYT1	Missense_Mutation	SNP	ENST00000425013.2	37	c.2512C>T	CCDS34595.1	.	.	.	.	.	.	.	.	.	.	G	17.74	3.464480	0.63513	.	.	ENSG00000011275	ENST00000425013;ENST00000389902;ENST00000458425	T;T	0.51325	0.75;0.71	4.89	1.82	0.25136	.	0.065480	0.64402	D	0.000013	T	0.58609	0.2134	L	0.47716	1.5	0.42644	D	0.99342	D;D	0.89917	1.0;1.0	D;D	0.77004	0.978;0.989	T	0.55761	-0.8090	10	0.46703	T	0.11	-14.9668	12.9946	0.58640	0.0:0.0:0.4526:0.5474	.	838;895	Q9NWF9;Q9NWF9-1	RN216_HUMAN;.	W	838;895;650	ENSP00000404602:R838W;ENSP00000374552:R895W	ENSP00000374552:R895W	R	-	1	2	RNF216	5629106	1.000000	0.71417	0.097000	0.21041	0.972000	0.66771	2.461000	0.45040	0.126000	0.18424	0.561000	0.74099	CGG		0.642	RNF216-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000340374.1	NM_207111		57	76	0	0	0	1	0	57	76					A	5662580	G	A	5662580	3	1	435	1	0	0	0	0	1	0	0	0	13480	1086	38	1	92	1	RNF216	7	5662580	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	18927	5662580	153476083	3489	24414											
RNF216	54476	broad.mit.edu	37	chr7	5800647	5800647	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	aacttaccttgtccccgatgGcagtgaaagttgttcaagtg	10	12	10	9	1	1	1	1	1	0	0	2	2	2	1	3	1	2	3	3	1	4	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:5800647G>A	ENST00000425013.2	-	2	278	c.54C>T	c.(52-54)tgC>tgT	p.C18C	RNF216_ENST00000389902.3_Silent_p.C18C	NM_207111.3|NM_207116.2	NP_996994.1|NP_996999.1	Q9NWF9	RN216_HUMAN	ring finger protein 216	18					apoptotic process (GO:0006915)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K48-linked ubiquitination (GO:0070936)|regulation of defense response to virus by host (GO:0050691)|regulation of interferon-beta production (GO:0032648)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)		FBXL18/RNF216(2)	breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)|skin(1)|urinary_tract(4)	33		Ovarian(82;0.07)		UCEC - Uterine corpus endometrioid carcinoma (126;0.135)|OV - Ovarian serous cystadenocarcinoma(56;2.69e-13)		GTCCCCGATGGCAGTGAAAGT	0.378																																						ENST00000425013.2																		FBXL18/RNF216(2)	0				breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)|skin(1)|urinary_tract(4)	33						c.(52-54)tgC>tgT		ring finger protein 216							137	119	125					7																	5800647		2203	4297	6500	SO:0001819	synonymous_variant	54476				apoptosis|interspecies interaction between organisms|proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked ubiquitination|regulation of defense response to virus by host|regulation of interferon-beta production	cytoplasm|nucleus	ligase activity|protein binding|zinc ion binding	g.chr7:5800647G>A	AY062174	CCDS34594.1, CCDS34595.1	7p22.1	2014-02-12	2007-08-20		ENSG00000011275	ENSG00000011275		"RING-type (C3HC4) zinc fingers"	21698	protein-coding gene	gene with protein product		609948					Standard	NM_207111		Approved	TRIAD3, UBCE7IP1, ZIN	uc003sox.2	Q9NWF9	OTTHUMG00000155500	ENST00000425013.2:c.54C>T	7.37:g.5800647G>A						RNF216_ENST00000389902.3_Silent_p.C18C	p.C18C	NM_207111.3|NM_207116.2	NP_996994.1|NP_996999.1	Q9NWF9	RN216_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.135)|OV - Ovarian serous cystadenocarcinoma(56;2.69e-13)	2	278	-		Ovarian(82;0.07)	18					Q6Y691|Q75ML7|Q7Z2H7|Q7Z7C1|Q8NHW7|Q9NYT1	Silent	SNP	ENST00000425013.2	37	c.54C>T	CCDS34595.1																																																																																				0.378	RNF216-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000340374.1	NM_207111		25	45	0	0	0	1	0	25	45					A	5800647	G	A	5800647	2	1	435	1	0	0	0	0	0	0	0	1	13480	1195	42	3		3	RNF216	7	5800647	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	138067	5800647	153338016	3490	24415											
PMS2	5395	broad.mit.edu	37	chr7	6043354	6043354	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgagctcagagcttcccccCgaaagccaaaagtttcaacc	12	7	8	14	1	2	2	2	1	0	1	3	3	3	2	5	0	4	3	5	0	4	2	rs63751284		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:6043354C>T	ENST00000265849.7	-	4	425	c.320G>A	c.(319-321)cGg>cAg	p.R107Q	Y_RNA_ENST00000365120.1_RNA|PMS2_ENST00000441476.2_Intron|PMS2_ENST00000406569.3_Missense_Mutation_p.R107Q|PMS2_ENST00000382321.4_Missense_Mutation_p.R107Q|PMS2_ENST00000469652.1_Intron	NM_000535.5	NP_000526	P54278	PMS2_HUMAN	PMS2 postmeiotic segregation increased 2 (S. cerevisiae)	107					ATP catabolic process (GO:0006200)|mismatch repair (GO:0006298)|response to drug (GO:0042493)|somatic hypermutation of immunoglobulin genes (GO:0016446)|somatic recombination of immunoglobulin gene segments (GO:0016447)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|MutLalpha complex (GO:0032389)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|endonuclease activity (GO:0004519)|single base insertion or deletion binding (GO:0032138)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(11)|lung(13)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Ovarian(82;0.0694)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;4.39e-15)		AGCTTCCCCCCGAAAGCCAAA	0.408			"Mis, N, F"			"colorectal, endometrial, ovarian, medulloblastoma, glioma"		Direct reversal of damage;Mismatch excision repair (MMR)	Turcot syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome																													ENST00000265849.7			yes	Rec		"Hereditary non-polyposis colorectal cancer, Turcot syndrome"	7	7p22	5395	"Mis, N, F"	PMS2 postmeiotic segregation increased 2 (S. cerevisiae)			E		"colorectal, endometrial, ovarian, medulloblastoma, glioma"			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(11)|lung(13)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						c.(319-321)cGg>cAg	Direct reversal of damage;Mismatch excision repair (MMR)	PMS2 postmeiotic segregation increased 2 (S. cerevisiae)							54	62	59					7																	6043354		1394	2380	3774	SO:0001583	missense	5395	Turcot syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome;Hereditary Non-Polyposis Colorectal Cancer, HNPCC, Lynch syndromes 1 and 2 (= Cancer Family Syndrome), Hereditary Mismatch Repair Deficiency syndrome, HMRDS;Mismatch Repair Cancer syndrome, MMRCS, Childhood Cancer Syndrome, CCS, Biallelic Mismatch Repair Gene Mutations Associated Early Onset Cancer, Lynch syndrome type III	mismatch repair|reciprocal meiotic recombination|somatic hypermutation of immunoglobulin genes	MutLalpha complex	ATP binding|ATPase activity|endonuclease activity|protein binding|single base insertion or deletion binding	g.chr7:6043354C>T		CCDS5343.1	7p22.1	2014-09-17	2001-11-28		ENSG00000122512	ENSG00000122512			9122	protein-coding gene	gene with protein product		600259	"postmeiotic segregation increased (S. cerevisiae) 2"	PMSL2		8072530	Standard	NM_000535		Approved	H_DJ0042M02.9, HNPCC4	uc003spl.3	P54278	OTTHUMG00000023135	ENST00000265849.7:c.320G>A	7.37:g.6043354C>T	ENSP00000265849:p.Arg107Gln					PMS2_ENST00000441476.2_Intron|PMS2_ENST00000469652.1_Intron|PMS2_ENST00000382321.4_Missense_Mutation_p.R107Q|PMS2_ENST00000406569.3_Missense_Mutation_p.R107Q	p.R107Q	NM_000535.5	NP_000526.1	P54278	PMS2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;4.39e-15)	4	425	-		Ovarian(82;0.0694)	107					B2R610|Q52LH6|Q5FBW9|Q5FBX1|Q5FBX2|Q75MR2	Missense_Mutation	SNP	ENST00000265849.7	37	c.320G>A	CCDS5343.1	.	.	.	.	.	.	.	.	.	.	C	37	6.129587	0.97310	.	.	ENSG00000122512	ENST00000265849;ENST00000382322;ENST00000382321;ENST00000406569	T;T;T	0.75704	-0.96;-0.96;-0.96	5.68	5.68	0.88126	DNA mismatch repair protein, N-terminal (1);ATPase-like, ATP-binding domain (4);DNA mismatch repair, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.89674	0.6783	H	0.94542	3.55	0.80722	D	1	D;P;D	0.76494	0.999;0.773;0.997	P;B;P	0.61658	0.892;0.063;0.848	D	0.92091	0.5680	10	0.87932	D	0	-14.0661	19.781	0.96416	0.0:1.0:0.0:0.0	rs63751284	107;107;107	P54278-3;P54278-2;P54278	.;.;PMS2_HUMAN	Q	107;60;107;107	ENSP00000265849:R107Q;ENSP00000371758:R107Q;ENSP00000384308:R107Q	ENSP00000265849:R107Q	R	-	2	0	PMS2	6009880	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.223000	0.78033	2.675000	0.91044	0.484000	0.47621	CGG		0.408	PMS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207353.3	NM_000535		22	35	0	0	0	1	0	22	35					T	6043354	C	T	6043354	3	4	435	1	0	0	0	0	1	0	0	0	12143	652	23	2	2316	2	PMS2	7	6043354	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	242707	6043354	153095309	3491	24416											
CYTH3	9265	broad.mit.edu	37	chr7	6210502	6210502	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtccccgccctcgttgatgcCgcggttcatggcgatgaacc	5	9	12	15	5	1	2	1	2	0	0	3	3	2	2	5	2	2	2	5	2	1	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:6210502C>T	ENST00000350796.3	-	8	806	c.670G>A	c.(670-672)Ggc>Agc	p.G224S	CYTH3_ENST00000488964.1_5'UTR|CYTH3_ENST00000396741.2_Missense_Mutation_p.G139S	NM_004227.3	NP_004218.1	O43739	CYH3_HUMAN	cytohesin 3	224					establishment of epithelial cell polarity (GO:0090162)|Golgi vesicle transport (GO:0048193)|positive regulation of cell adhesion (GO:0045785)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)|regulation of cell adhesion (GO:0030155)	cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|urinary_tract(1)	19						TCGTTGATGCCGCGGTTCATG	0.647																																						ENST00000350796.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|urinary_tract(1)	19						c.(670-672)Ggc>Agc		cytohesin 3							122	90	101					7																	6210502		2203	4300	6503	SO:0001583	missense	9265				regulation of ARF protein signal transduction|regulation of cell adhesion|vesicle-mediated transport	cytoplasm|membrane fraction|plasma membrane	1-phosphatidylinositol binding|ARF guanyl-nucleotide exchange factor activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity	g.chr7:6210502C>T	AJ223957	CCDS5346.1	7p22.1	2014-05-02	2008-08-14	2008-08-14	ENSG00000008256	ENSG00000008256		"Pleckstrin homology (PH) domain containing"	9504	protein-coding gene	gene with protein product		605081	"pleckstrin homology, Sec7 and coiled-coil domains 3"	PSCD3		9072969	Standard	NM_004227		Approved	GRP1, ARNO3, cytohesin-3	uc003spt.3	O43739	OTTHUMG00000023440	ENST00000350796.3:c.670G>A	7.37:g.6210502C>T	ENSP00000297044:p.Gly224Ser					CYTH3_ENST00000396741.2_Missense_Mutation_p.G139S|CYTH3_ENST00000488964.1_5'UTR	p.G224S	NM_004227.3	NP_004218.1	O43739	CYH3_HUMAN			8	806	-			224					A4D2N8	Missense_Mutation	SNP	ENST00000350796.3	37	c.670G>A	CCDS5346.1	.	.	.	.	.	.	.	.	.	.	C	36	5.946939	0.97134	.	.	ENSG00000008256	ENST00000350796;ENST00000396741	T;T	0.59224	0.28;0.28	5.48	5.48	0.80851	.	0.044239	0.85682	N	0.000000	D	0.83175	0.5197	H	0.94385	3.53	0.80722	D	1	D;D	0.89917	0.996;1.0	D;D	0.70716	0.952;0.97	D	0.87826	0.2641	10	0.87932	D	0	.	19.3366	0.94322	0.0:1.0:0.0:0.0	.	139;224	B7Z2V9;O43739-2	.;.	S	224;139	ENSP00000297044:G224S;ENSP00000379967:G139S	ENSP00000297044:G224S	G	-	1	0	CYTH3	6177027	1.000000	0.71417	0.962000	0.40283	0.898000	0.52572	7.618000	0.83043	2.579000	0.87056	0.655000	0.94253	GGC		0.647	CYTH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207396.2	NM_004227		6	12	0	0	0	1	0	6	12					T	6210502	C	T	6210502	3	4	435	1	0	0	0	0	1	0	0	0	4205	652	23	2	553	2	CYTH3	7	6210502	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	167148	6210502	152928161	3492	24417											
DAGLB	221955	broad.mit.edu	37	chr7	6474468	6474468	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcgtctttcccaatgcaacaGcacaagagcttgattctggt	10	12	8	11	1	2	2	0	1	2	1	4	2	3	2	1	1	4	3	1	1	3	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:6474468G>A	ENST00000297056.6	-	4	772	c.603C>T	c.(601-603)tgC>tgT	p.C201C	DAGLB_ENST00000436575.1_Silent_p.C160C|DAGLB_ENST00000421761.2_Intron|DAGLB_ENST00000425398.2_Intron|DAGLB_ENST00000479922.2_5'Flank|DAGLB_ENST00000428902.2_Silent_p.C74C	NM_139179.3	NP_631918.3	Q8NCG7	DGLB_HUMAN	diacylglycerol lipase, beta	201					arachidonic acid metabolic process (GO:0019369)|blood coagulation (GO:0007596)|lipid catabolic process (GO:0016042)|neuroblast proliferation (GO:0007405)|neurotransmitter biosynthetic process (GO:0042136)|platelet activation (GO:0030168)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|urinary_tract(2)	26		Ovarian(82;0.232)		UCEC - Uterine corpus endometrioid carcinoma (126;0.102)		CAATGCAACAGCACAAGAGCT	0.502																																						ENST00000297056.6																			0				breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|urinary_tract(2)	26						c.(601-603)tgC>tgT		diacylglycerol lipase, beta							177	168	171					7																	6474468		2203	4300	6503	SO:0001819	synonymous_variant	221955				lipid catabolic process|platelet activation	integral to membrane|plasma membrane	acylglycerol lipase activity|metal ion binding|triglyceride lipase activity	g.chr7:6474468G>A	AF450090	CCDS5350.1, CCDS47536.1	7p22.1	2008-03-18			ENSG00000164535	ENSG00000164535	3.1.1.-		28923	protein-coding gene	gene with protein product		614016					Standard	NM_139179		Approved	KCCR13L, DAGLBETA	uc003sqa.3	Q8NCG7	OTTHUMG00000125513	ENST00000297056.6:c.603C>T	7.37:g.6474468G>A						DAGLB_ENST00000425398.2_Intron|DAGLB_ENST00000421761.2_Intron|DAGLB_ENST00000428902.2_Silent_p.C74C|DAGLB_ENST00000436575.1_Silent_p.C160C	p.C201C	NM_139179.3	NP_631918.3	Q8NCG7	DGLB_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.102)	4	772	-		Ovarian(82;0.232)	201					A4D2P3|B3KV90|B4DQU0|Q6PIX3|Q8N2N2|Q8N9S1|Q8TED3|Q8WXE6	Silent	SNP	ENST00000297056.6	37	c.603C>T	CCDS5350.1																																																																																				0.502	DAGLB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246840.2	NM_139179		13	131	0	0	0	1	0	13	131					A	6474468	G	A	6474468	2	1	435	1	0	0	0	0	0	0	0	1	4227	963	34	3		3	DAGLB	7	6474468	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	263966	6474468	152664195	3493	24418											
C7orf26	79034	broad.mit.edu	37	chr7	6639613	6639613	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cccgctcgttggattgatccGctggtgcgtgaaggcacccc	5	9	13	14	4	0	2	0	2	0	0	2	3	1	3	4	3	1	4	4	3	1	2	rs149671282	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:6639613G>A	ENST00000344417.5	+	4	1001	c.734G>A	c.(733-735)cGc>cAc	p.R245H	C7orf26_ENST00000472693.1_3'UTR|C7orf26_ENST00000359073.5_Intron	NM_024067.2	NP_076972.2	Q96N11	CG026_HUMAN	chromosome 7 open reading frame 26	245			R -> C (in dbSNP:rs35534502).					p.R245L(1)		endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|skin(1)	11		Ovarian(82;0.232)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)		GGATTGATCCGCTGGTGCGTG	0.517													G|||	2	0.000399361	0.0015	0	5008	,	,		18203	0		0	False		,,,				2504	0					ENST00000344417.5																			1	Substitution - Missense(1)	p.R245L(1)	endometrium(1)	endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|skin(1)	11						c.(733-735)cGc>cAc		chromosome 7 open reading frame 26		G	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	62	61	61		734	5.1	1	7	dbSNP_134	61	0,8600		0,0,4300	no	missense	C7orf26	NM_024067.2	29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	possibly-damaging	245/450	6639613	1,13005	2203	4300	6503	SO:0001583	missense	79034							g.chr7:6639613G>A	BC005121	CCDS5353.1	7p22.1	2011-11-24			ENSG00000146576	ENSG00000146576			21702	protein-coding gene	gene with protein product							Standard	NM_024067		Approved	MGC2718	uc003sqo.1	Q96N11	OTTHUMG00000125517	ENST00000344417.5:c.734G>A	7.37:g.6639613G>A	ENSP00000340220:p.Arg245His					C7orf26_ENST00000472693.1_3'UTR|C7orf26_ENST00000359073.5_Intron	p.R245H	NM_024067.2	NP_076972.2	Q96N11	CG026_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)	4	1001	+		Ovarian(82;0.232)	245		R -> C (in dbSNP:rs35534502).			Q9BQ43	Missense_Mutation	SNP	ENST00000344417.5	37	c.734G>A	CCDS5353.1	.	.	.	.	.	.	.	.	.	.	G	16.96	3.267305	0.59540	2.27E-4	0.0	ENSG00000146576	ENST00000344417	T	0.50001	0.76	5.08	5.08	0.68730	.	0.000000	0.85682	D	0.000000	T	0.66867	0.2833	M	0.66939	2.045	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.64867	-0.6306	10	0.41790	T	0.15	-37.0612	16.7774	0.85555	0.0:0.0:1.0:0.0	.	245	Q96N11	CG026_HUMAN	H	245	ENSP00000340220:R245H	ENSP00000340220:R245H	R	+	2	0	C7orf26	6606138	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.623000	0.83113	2.752000	0.94435	0.555000	0.69702	CGC		0.517	C7orf26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246844.2	NM_024067		7	69	0	0	0	1	0	7	69					A	6639613	G	A	6639613	3	1	435	1	0	0	0	0	1	0	0	0	2381	1087	38	1	748	1	C7orf26	7	6639613	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	165145	6639613	152499050	3494	24419											
GLCCI1	113263	broad.mit.edu	37	chr7	8125939	8125939	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tctaggccccctcttacctgCttctgaccttatgctcaaga	7	13	6	15	0	4	2	1	1	3	1	4	2	4	2	4	1	3	2	4	1	4	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:8125939C>T	ENST00000223145.5	+	8	1972	c.1415C>T	c.(1414-1416)gCt>gTt	p.A472V		NM_138426.3	NP_612435.1	Q86VQ1	GLCI1_HUMAN	glucocorticoid induced transcript 1	472						cytoplasm (GO:0005737)				endometrium(4)|large_intestine(4)|lung(13)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	25		Ovarian(82;0.0608)		UCEC - Uterine corpus endometrioid carcinoma (126;0.206)		CTCTTACCTGCTTCTGACCTT	0.498																																						ENST00000223145.5																			0				endometrium(4)|large_intestine(4)|lung(13)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	25						c.(1414-1416)gCt>gTt		glucocorticoid induced transcript 1							193	212	205					7																	8125939		2203	4300	6503	SO:0001583	missense	113263							g.chr7:8125939C>T	BC050291	CCDS34601.1	7p22.2	2008-08-18			ENSG00000106415	ENSG00000106415			18713	protein-coding gene	gene with protein product		614283					Standard	NM_138426		Approved	GIG18, FAM117C, TSSN1	uc003srk.4	Q86VQ1	OTTHUMG00000151984	ENST00000223145.5:c.1415C>T	7.37:g.8125939C>T	ENSP00000223145:p.Ala472Val						p.A472V	NM_138426.3	NP_612435.1	Q86VQ1	GLCI1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.206)	8	1972	+		Ovarian(82;0.0608)	472					A4D103|Q96FD0	Missense_Mutation	SNP	ENST00000223145.5	37	c.1415C>T	CCDS34601.1	.	.	.	.	.	.	.	.	.	.	C	14.66	2.602505	0.46423	.	.	ENSG00000106415	ENST00000223145	.	.	.	5.14	5.14	0.70334	.	0.336202	0.35151	N	0.003419	T	0.74642	0.3743	L	0.47716	1.5	0.58432	D	0.999991	D	0.76494	0.999	D	0.73708	0.981	T	0.74578	-0.3619	9	0.54805	T	0.06	-28.0958	19.177	0.93605	0.0:1.0:0.0:0.0	.	472	Q86VQ1	GLCI1_HUMAN	V	472	.	ENSP00000223145:A472V	A	+	2	0	GLCCI1	8092464	1.000000	0.71417	1.000000	0.80357	0.179000	0.23085	2.610000	0.46325	2.840000	0.97914	0.655000	0.94253	GCT		0.498	GLCCI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324672.1	NM_138426		6	221	0	0	0	1	0	6	221					T	8125939	C	T	8125939	3	4	435	1	0	0	0	0	1	0	0	0	6431	797	28	3	1445	3	GLCCI1	7	8125939	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	1486326	8125939	151012724	3495	24420											
PHF14	9678	broad.mit.edu	37	chr7	11030335	11030335	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atattttaatattaggactcGctgattcttgagaagagtca	13	15	8	5	1	2	3	1	2	1	2	3	5	2	4	0	1	0	1	0	1	5	7			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:11030335G>A	ENST00000403050.3	+	4	1358	c.906G>A	c.(904-906)tcG>tcA	p.S302S	PHF14_ENST00000445996.2_Silent_p.S17S	NM_014660.3	NP_055475.2	O94880	PHF14_HUMAN	PHD finger protein 14	302					lung alveolus development (GO:0048286)|negative regulation of mesenchymal cell proliferation involved in lung development (GO:2000791)|negative regulation of platelet-derived growth factor receptor-alpha signaling pathway (GO:2000584)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)			NS(2)|breast(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	35				UCEC - Uterine corpus endometrioid carcinoma (126;0.205)		ATTAGGACTCGCTGATTCTTG	0.284																																						ENST00000403050.3																			0				NS(2)|breast(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	35						c.(904-906)tcG>tcA		PHD finger protein 14							62	53	56					7																	11030335		1804	4060	5864	SO:0001819	synonymous_variant	9678						zinc ion binding	g.chr7:11030335G>A	AB018326	CCDS47542.1	7p21.3	2013-01-28			ENSG00000106443	ENSG00000106443		"Zinc fingers, PHD-type"	22203	protein-coding gene	gene with protein product						9872452	Standard	NM_014660		Approved	KIAA0783	uc003sry.2	O94880	OTTHUMG00000150463	ENST00000403050.3:c.906G>A	7.37:g.11030335G>A						PHF14_ENST00000445996.2_Silent_p.S17S	p.S302S	NM_014660.3	NP_055475.2	O94880	PHF14_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.205)	4	1358	+			302					A7MCZ3|B4DI82	Silent	SNP	ENST00000403050.3	37	c.906G>A	CCDS47542.1																																																																																				0.284	PHF14-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000318212.1	NM_014660		4	4	0	0	0	1	0	4	4					A	11030335	G	A	11030335	2	1	435	1	0	0	0	0	0	0	0	1	11825	1074	38	1		1	PHF14	7	11030335	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	2904396	11030335	148108328	3496	24421											
THSD7A	221981	broad.mit.edu	37	chr7	11415435	11415435	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatatgttacatgtcggcatCtccatcataggctaaggtta	11	14	8	8	1	2	0	1	0	1	0	4	0	2	0	1	3	1	4	1	3	6	6			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:11415435C>A	ENST00000423059.4	-	28	5211	c.4960G>T	c.(4960-4962)Gat>Tat	p.D1654Y	AC004538.3_ENST00000599875.1_RNA|AC004538.3_ENST00000595972.1_RNA|AC004538.3_ENST00000428967.1_RNA|AC004538.3_ENST00000421121.1_RNA|AC004538.3_ENST00000445839.1_RNA	NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	1654					angiogenesis (GO:0001525)|cell differentiation (GO:0030154)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		ATGTCGGCATCTCCATCATAG	0.403										HNSCC(18;0.044)																												ENST00000423059.3																			0				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113						c.(4960-4962)Gat>Tat		thrombospondin, type I, domain containing 7A							169	170	170					7																	11415435		1837	4095	5932	SO:0001583	missense	221981					integral to membrane		g.chr7:11415435C>A		CCDS47543.1	7p21.3	2006-10-16			ENSG00000005108	ENSG00000005108			22207	protein-coding gene	gene with protein product		612249					Standard	NM_015204		Approved	KIAA0960	uc021zzn.1	Q9UPZ6	OTTHUMG00000152346	ENST00000423059.4:c.4960G>T	7.37:g.11415435C>A	ENSP00000406482:p.Asp1654Tyr	HNSCC(18;0.044)				AC004538.3_ENST00000421121.1_RNA|AC004538.3_ENST00000599875.1_RNA|AC004538.3_ENST00000428967.1_RNA|AC004538.3_ENST00000445839.1_RNA	p.D1654Y	NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.163)	28	5211	-			1654						Missense_Mutation	SNP	ENST00000423059.4	37	c.4960G>T	CCDS47543.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.114807	0.77210	.	.	ENSG00000005108	ENST00000262042;ENST00000423059	T	0.71698	-0.59	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	D	0.84110	0.5400	M	0.67397	2.05	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.84661	0.0706	10	0.87932	D	0	.	20.055	0.97649	0.0:1.0:0.0:0.0	.	1654;1654	Q9UPZ6;C9JL67	THS7A_HUMAN;.	Y	1654	ENSP00000406482:D1654Y	ENSP00000262042:D1654Y	D	-	1	0	THSD7A	11381960	1.000000	0.71417	1.000000	0.80357	0.921000	0.55340	7.487000	0.81328	2.743000	0.94032	0.455000	0.32223	GAT		0.403	THSD7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325944.4	XM_928187.2		27	43	1	0	1.13719e-10	1	1.21767e-10	27	43					A	11415435	C	A	11415435	3	1	435	1	0	0	0	0	1	0	0	0	15876	913	32	5	17	5	THSD7A	7	11415435	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	385100	11415435	147723228	3497	24422											
THSD7A	221981	broad.mit.edu	37	chr7	11422233	11422233	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gccatccatttatattcataGcactgtccatctgcagggaa	11	12	7	11	0	2	0	1	0	1	0	4	1	4	1	3	1	2	2	3	1	4	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:11422233G>T	ENST00000423059.4	-	24	4673	c.4422C>A	c.(4420-4422)tgC>tgA	p.C1474*	AC004538.3_ENST00000595972.1_RNA|AC004538.3_ENST00000421121.1_RNA|AC004538.3_ENST00000445839.1_RNA	NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	1474	TSP type-1 15. {ECO:0000255|PROSITE- ProRule:PRU00210}.				angiogenesis (GO:0001525)|cell differentiation (GO:0030154)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		TATATTCATAGCACTGTCCAT	0.398										HNSCC(18;0.044)																												ENST00000423059.3																			0				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113						c.(4420-4422)tgC>tgA		thrombospondin, type I, domain containing 7A							88	83	84					7																	11422233		1894	4109	6003	SO:0001587	stop_gained	221981					integral to membrane		g.chr7:11422233G>T		CCDS47543.1	7p21.3	2006-10-16			ENSG00000005108	ENSG00000005108			22207	protein-coding gene	gene with protein product		612249					Standard	NM_015204		Approved	KIAA0960	uc021zzn.1	Q9UPZ6	OTTHUMG00000152346	ENST00000423059.4:c.4422C>A	7.37:g.11422233G>T	ENSP00000406482:p.Cys1474*	HNSCC(18;0.044)				AC004538.3_ENST00000421121.1_RNA|AC004538.3_ENST00000595972.1_RNA|AC004538.3_ENST00000445839.1_RNA	p.C1474*	NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.163)	24	4673	-			1474			TSP type-1 15.			Nonsense_Mutation	SNP	ENST00000423059.4	37	c.4422C>A	CCDS47543.1	.	.	.	.	.	.	.	.	.	.	G	42	9.489946	0.99186	.	.	ENSG00000005108	ENST00000262042;ENST00000423059	.	.	.	5.84	-1.66	0.08265	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.7911	0.57534	0.3051:0.0:0.6949:0.0	.	.	.	.	X	1474	.	ENSP00000262042:C1474X	C	-	3	2	THSD7A	11388758	0.919000	0.31177	0.989000	0.46669	0.455000	0.32408	0.101000	0.15251	-0.431000	0.07307	-0.350000	0.07774	TGC		0.398	THSD7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325944.4	XM_928187.2		3	8	1	0	0.004672	1	0.00472505	3	8					T	11422233	G	T	11422233	4	4	435	1	0	0	0	0	0	1	0	0	15876	963	34	5	571	5	THSD7A	7	11422233	Nonsense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	6798	11422233	147716430	3498	24423											
THSD7A	221981	broad.mit.edu	37	chr7	11447030	11447030	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	atgcaggacgtgttcatctgCcagttcttctccaagccaag	9	11	9	12	1	4	0	1	0	3	0	5	1	4	1	3	1	3	3	3	1	2	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:11447030C>T	ENST00000423059.4	-	20	4070	c.3819G>A	c.(3817-3819)tgG>tgA	p.W1273*	AC004160.4_ENST00000425837.1_RNA|AC004538.3_ENST00000445839.1_RNA	NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	1273	TSP type-1 12. {ECO:0000255|PROSITE- ProRule:PRU00210}.				angiogenesis (GO:0001525)|cell differentiation (GO:0030154)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		TGTTCATCTGCCAGTTCTTCT	0.478										HNSCC(18;0.044)																												ENST00000423059.3																			0				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113						c.(3817-3819)tgG>tgA		thrombospondin, type I, domain containing 7A							63	63	63					7																	11447030		1943	4156	6099	SO:0001587	stop_gained	221981					integral to membrane		g.chr7:11447030C>T		CCDS47543.1	7p21.3	2006-10-16			ENSG00000005108	ENSG00000005108			22207	protein-coding gene	gene with protein product		612249					Standard	NM_015204		Approved	KIAA0960	uc021zzn.1	Q9UPZ6	OTTHUMG00000152346	ENST00000423059.4:c.3819G>A	7.37:g.11447030C>T	ENSP00000406482:p.Trp1273*	HNSCC(18;0.044)				AC004160.4_ENST00000425837.1_RNA|AC004538.3_ENST00000445839.1_RNA	p.W1273*	NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.163)	20	4070	-			1273			TSP type-1 12.			Nonsense_Mutation	SNP	ENST00000423059.4	37	c.3819G>A	CCDS47543.1	.	.	.	.	.	.	.	.	.	.	C	45	11.706440	0.99593	.	.	ENSG00000005108	ENST00000262042;ENST00000423059	.	.	.	5.37	5.37	0.77165	.	0.057184	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.37606	T	0.19	.	19.518	0.95171	0.0:1.0:0.0:0.0	.	.	.	.	X	1273	.	ENSP00000262042:W1273X	W	-	3	0	THSD7A	11413555	1.000000	0.71417	1.000000	0.80357	0.782000	0.44232	5.785000	0.68998	2.679000	0.91253	0.585000	0.79938	TGG		0.478	THSD7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325944.4	XM_928187.2		5	6	0	0	0	1	0	5	6					T	11447030	C	T	11447030	4	4	435	1	0	0	0	0	0	1	0	0	15876	740	26	3	1190	3	THSD7A	7	11447030	Nonsense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	24797	11447030	147691633	3499	24424											
SCIN	85477	broad.mit.edu	37	chr7	12679999	12679999	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tctcccaaggcaaagagcctGttcacctactgagtttgttc	9	12	8	12	0	2	2	1	1	1	1	4	2	2	2	3	1	2	4	3	1	3	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:12679999G>A	ENST00000297029.5	+	11	1539	c.1438G>A	c.(1438-1440)Gtt>Att	p.V480I	SCIN_ENST00000519209.1_Missense_Mutation_p.V233I|SCIN_ENST00000445618.2_Missense_Mutation_p.V233I	NM_001112706.2	NP_001106177.1	Q9Y6U3	ADSV_HUMAN	scinderin	480	Ca(2+)-dependent actin binding.				actin filament capping (GO:0051693)|actin filament severing (GO:0051014)|actin nucleation (GO:0045010)|calcium ion-dependent exocytosis (GO:0017156)|negative regulation of cell proliferation (GO:0008285)|positive regulation of apoptotic process (GO:0043065)|positive regulation of megakaryocyte differentiation (GO:0045654)|positive regulation of secretion (GO:0051047)|regulation of chondrocyte differentiation (GO:0032330)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)	1-phosphatidylinositol binding (GO:0005545)|actin binding (GO:0003779)|actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylserine binding (GO:0001786)			endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)	17				UCEC - Uterine corpus endometrioid carcinoma (126;0.195)		CAAAGAGCCTGTTCACCTACT	0.443																																						ENST00000297029.5																			0				endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)	17						c.(1438-1440)Gtt>Att		scinderin							57	55	56					7																	12679999		1857	4096	5953	SO:0001583	missense	85477				actin filament capping|actin filament severing|actin nucleation|calcium ion-dependent exocytosis|negative regulation of cell proliferation|positive regulation of apoptosis|positive regulation of megakaryocyte differentiation|positive regulation of secretion|regulation of chondrocyte differentiation	cell cortex|cytoskeleton	1-phosphatidylinositol binding|actin filament binding|calcium ion binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding	g.chr7:12679999G>A	AF276507	CCDS47545.1, CCDS47546.1	7p21.3	2006-04-25			ENSG00000006747	ENSG00000006747			21695	protein-coding gene	gene with protein product		613416					Standard	NM_033128		Approved	adseverin, KIAA1905	uc003ssn.4	Q9Y6U3	OTTHUMG00000152385	ENST00000297029.5:c.1438G>A	7.37:g.12679999G>A	ENSP00000297029:p.Val480Ile					SCIN_ENST00000445618.2_Missense_Mutation_p.V233I|SCIN_ENST00000519209.1_Missense_Mutation_p.V233I	p.V480I	NM_001112706.2	NP_001106177.1	Q9Y6U3	ADSV_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)	11	1539	+			480			Ca(2+)-dependent actin binding.		A8K2U8|Q8NBZ6|Q8WU97|Q96JC7|Q96PY2	Missense_Mutation	SNP	ENST00000297029.5	37	c.1438G>A	CCDS47545.1	.	.	.	.	.	.	.	.	.	.	G	10.98	1.503368	0.26949	.	.	ENSG00000006747	ENST00000297029;ENST00000519209;ENST00000445618	T;T;T	0.54071	0.59;0.59;0.59	4.56	2.58	0.30949	Gelsolin domain (1);	0.268520	0.35096	N	0.003459	T	0.21962	0.0529	N	0.01493	-0.835	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.16808	-1.0390	10	0.41790	T	0.15	-5.6723	7.2011	0.25881	0.0799:0.2053:0.6143:0.1004	.	480	Q9Y6U3	ADSV_HUMAN	I	480;233;233	ENSP00000297029:V480I;ENSP00000430997:V233I;ENSP00000390189:V233I	ENSP00000297029:V480I	V	+	1	0	SCIN	12646524	0.001000	0.12720	1.000000	0.80357	0.972000	0.66771	0.012000	0.13287	0.364000	0.24374	-1.134000	0.01955	GTT		0.443	SCIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326041.1	NM_033128		11	24	0	0	0	1	0	11	24					A	12679999	G	A	12679999	3	1	435	1	0	0	0	0	1	0	0	0	13905	1377	48	3	1480	3	SCIN	7	12679999	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	1232969	12679999	146458664	3500	24425											
ETV1	2115	broad.mit.edu	37	chr7	13949324	13949324	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggcccttttcaaacatacaGcctgtggatgaaaaaggaat	14	9	10	8	0	1	1	1	1	0	0	1	3	1	3	2	3	3	0	2	3	5	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:13949324G>T	ENST00000430479.1	-	11	1540	c.873C>A	c.(871-873)ggC>ggA	p.G291G	ETV1_ENST00000405218.2_Splice_Site_p.G291G|ETV1_ENST00000420159.2_Splice_Site_p.G233G|ETV1_ENST00000242066.5_Splice_Site_p.G273G|ETV1_ENST00000399357.3_Splice_Site_p.G188G|ETV1_ENST00000343495.5_Splice_Site_p.G273G|ETV1_ENST00000403527.1_Splice_Site_p.G251G|ETV1_ENST00000405192.2_Splice_Site_p.G268G|ETV1_ENST00000403685.1_Splice_Site_p.G273G|ETV1_ENST00000476720.2_5'Flank|ETV1_ENST00000405358.4_Splice_Site_p.G305G	NM_004956.4	NP_004947.2	P50549	ETV1_HUMAN	ets variant 1	291					axon guidance (GO:0007411)|cell differentiation (GO:0030154)|mechanosensory behavior (GO:0007638)|muscle organ development (GO:0007517)|peripheral nervous system neuron development (GO:0048935)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)		TMPRSS2/ETV1(34)|ACSL3_ENST00000357430/ETV1(2)|EWSR1/ETV1(7)|KLK2/ETV1(3)|SLC45A3/ETV1(3)|HNRNPA2B1/ETV1(8)	breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	31						CAAACATACAGCCTGTGGATG	0.343			T	"EWSR1, TMPRSS2, SLC45A3, C15orf21, HNRNPA2B1. ACSL3"	"Ewing sarcoma, prostate"																																	ENST00000343495.5				Dom	yes		7	7p22	2115	T	ets variant gene 1			"M, E"	"EWSR1, TMPRSS2, SLC45A3, C15orf21, HNRNPA2B1. ACSL3"		"Ewing sarcoma, prostate"	TMPRSS2/ETV1(34)|ACSL3_ENST00000357430/ETV1(2)|EWSR1/ETV1(7)|KLK2/ETV1(3)|SLC45A3/ETV1(3)|HNRNPA2B1/ETV1(8)	0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	31						c.e10-1		ets variant 1							94	92	93					7																	13949324		1808	4073	5881	SO:0001630	splice_region_variant	2115				transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:13949324G>T		CCDS55083.1, CCDS55084.1, CCDS55085.1, CCDS55086.1, CCDS55087.1, CCDS55088.1	7p22	2008-09-12	2008-09-12		ENSG00000006468	ENSG00000006468			3490	protein-coding gene	gene with protein product		600541	"ets variant gene 1"			1340465	Standard	NM_004956		Approved	ER81	uc003ssw.4	P50549	OTTHUMG00000152403	ENST00000430479.1:c.872-1C>A	7.37:g.13949324G>T						ETV1_ENST00000405358.4_Splice_Site_p.G305_splice|ETV1_ENST00000242066.5_Splice_Site_p.G273_splice|ETV1_ENST00000405192.2_Splice_Site_p.G268_splice|ETV1_ENST00000399357.3_Splice_Site_p.G188_splice|ETV1_ENST00000403685.1_Splice_Site_p.G273_splice|ETV1_ENST00000420159.2_Splice_Site_p.G233_splice|ETV1_ENST00000405218.2_Splice_Site_p.G291_splice|ETV1_ENST00000403527.1_Splice_Site_p.G251_splice|ETV1_ENST00000430479.1_Splice_Site_p.G291_splice	p.G273_splice			P50549	ETV1_HUMAN			10	1557	-			291	Missing (in Ref. 5; AAC62435).				A4D118|B2R768|B7Z2I4|B7Z618|B7Z9P2|C9JT37|E9PHB1|F5GXR2|O75849|Q4KMQ6|Q59GA7|Q6AI30|Q9UQ71|Q9Y636	Splice_Site	SNP	ENST00000430479.1	37	c.817_splice	CCDS55088.1																																																																																				0.343	ETV1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326111.1	NM_004956	Silent	12	42	1	0	6.40141e-05	1	6.5734e-05	12	42					T	13949324	G	T	13949324	5	4	435	1	0	0	0	0	0	0	1	0	5277	985	34	5	576	5	ETV1	7	13949324	Splice_Site	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	1269325	13949324	145189339	3501	24426											
TMEM195	392636	broad.mit.edu	37	chr7	15405839	15405839	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctcagaaggagagtaacttgCgacagtgcctgtcaaacaaa	15	7	10	9	1	2	2	2	0	0	2	2	4	2	2	1	1	4	1	1	1	4	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:15405839C>T	ENST00000342526.3	-	11	1252	c.1083G>A	c.(1081-1083)tcG>tcA	p.S361S		NM_001004320.1	NP_001004320.1	Q6ZNB7	ALKMO_HUMAN	alkylglycerol monooxygenase	361					ether lipid metabolic process (GO:0046485)|fatty acid biosynthetic process (GO:0006633)|membrane lipid metabolic process (GO:0006643)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glyceryl-ether monooxygenase activity (GO:0050479)|iron ion binding (GO:0005506)			breast(1)|kidney(1)|large_intestine(6)|liver(1)|lung(30)|prostate(1)|skin(2)	42						GAGTAACTTGCGACAGTGCCT	0.403																																						ENST00000342526.3																			0				breast(1)|kidney(1)|large_intestine(6)|liver(1)|lung(30)|prostate(1)|skin(2)	42						c.(1081-1083)tcG>tcA		alkylglycerol monooxygenase							44	39	41					7																	15405839		2203	4299	6502	SO:0001819	synonymous_variant	392636				ether lipid metabolic process|fatty acid biosynthetic process|membrane lipid metabolic process	endoplasmic reticulum membrane|integral to membrane	glyceryl-ether monooxygenase activity|iron ion binding	g.chr7:15405839C>T		CCDS34604.1	7p21.1	2013-03-04	2011-01-31	2011-01-31	ENSG00000187546	ENSG00000187546	1.14.16.5	"Fatty acid hydroxylase domain containing"	33784	protein-coding gene	gene with protein product		613738	"transmembrane protein 195"	TMEM195		20643956	Standard	NM_001004320		Approved	FLJ16237	uc003stb.1	Q6ZNB7	OTTHUMG00000152387	ENST00000342526.3:c.1083G>A	7.37:g.15405839C>T							p.S361S	NM_001004320.1	NP_001004320.1	Q6ZNB7	ALKMO_HUMAN			11	1252	-			361					A4D114|A6NCH5	Silent	SNP	ENST00000342526.3	37	c.1083G>A	CCDS34604.1																																																																																				0.403	AGMO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326049.2	NM_001004320		6	8	0	0	0	1	0	6	8					T	15405839	C	T	15405839	2	4	435	1	0	0	0	0	0	0	0	1	16114	755	27	1		1	TMEM195	7	15405839	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	1456515	15405839	143732824	3502	24427											
ISPD	729920	broad.mit.edu	37	chr7	16255713	16255713	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gtgggtaagatatgagaagcCcatataacaaaatatttctt	16	12	8	5	0	1	2	0	1	1	2	1	3	1	2	1	1	2	1	1	1	8	7			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:16255713C>T	ENST00000407010.2	-	9	1228	c.1229G>A	c.(1228-1230)gGg>gAg	p.G410E	ISPD-AS1_ENST00000582683.1_RNA|ISPD-AS1_ENST00000579293.1_RNA|ISPD_ENST00000399310.3_Missense_Mutation_p.G360E|ISPD-AS1_ENST00000457112.1_RNA|ISPD-AS1_ENST00000438573.1_RNA	NM_001101426.3	NP_001094896.1	A4D126	ISPD_HUMAN	isoprenoid synthase domain containing	410					axon guidance (GO:0007411)|isoprenoid biosynthetic process (GO:0008299)|protein O-linked mannosylation (GO:0035269)		nucleotidyltransferase activity (GO:0016779)			endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)	9						TATGAGAAGCCCATATAACAA	0.323										Multiple Myeloma(15;0.18)																												ENST00000407010.2																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)	9						c.(1228-1230)gGg>gAg		isoprenoid synthase domain containing							85	85	85					7																	16255713		1796	4057	5853	SO:0001583	missense	729920				isoprenoid biosynthetic process		nucleotidyltransferase activity	g.chr7:16255713C>T	AK124805		7p21.2	2010-03-19			ENSG00000214960	ENSG00000214960			37276	protein-coding gene	gene with protein product	"notch1-induced protein", "4-diphosphocytidyl-2C-methyl-D-erythritol synthase homolog (Arabidopsis)"	614631				11181995	Standard	NM_001101417		Approved	hCG_1745121, IspD, Nip	uc010ktx.2	A4D126	OTTHUMG00000152447	ENST00000407010.2:c.1229G>A	7.37:g.16255713C>T	ENSP00000385478:p.Gly410Glu	Multiple Myeloma(15;0.18)				AC004741.3_ENST00000438573.1_RNA|AC004741.3_ENST00000457112.1_RNA|AC004741.3_ENST00000582683.1_RNA|AC004741.3_ENST00000579293.1_RNA|ISPD_ENST00000399310.3_Missense_Mutation_p.G360E	p.G410E	NM_001101426.3	NP_001094896.1	A4D126	ISPD_HUMAN			9	1228	-			410					A8MU35|H9KVB2	Missense_Mutation	SNP	ENST00000407010.2	37	c.1229G>A		.	.	.	.	.	.	.	.	.	.	C	18.07	3.541537	0.65085	.	.	ENSG00000214960	ENST00000407010;ENST00000399310	D;D	0.92249	-2.77;-3.0	5.07	5.07	0.68467	.	.	.	.	.	D	0.92509	0.7621	N	0.24115	0.695	0.47819	D	0.999523	D	0.89917	1.0	D	0.77557	0.99	D	0.93455	0.6805	9	0.87932	D	0	-16.6249	14.293	0.66292	0.0:1.0:0.0:0.0	.	410	A4D126	ISPD_HUMAN	E	410;360	ENSP00000385478:G410E;ENSP00000382249:G360E	ENSP00000382249:G360E	G	-	2	0	ISPD	16222238	0.751000	0.28327	0.160000	0.22671	0.893000	0.52053	3.810000	0.55613	2.514000	0.84764	0.650000	0.86243	GGG		0.323	ISPD-001	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000326252.4	NM_001101426		8	30	0	0	0	1	0	8	30					T	16255713	C	T	16255713	3	4	435	1	0	0	0	0	1	0	0	0	7864	623	22	3	134	3	ISPD	7	16255713	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	849874	16255713	142882950	3503	24428											
AGR2	10551	broad.mit.edu	37	chr7	16839397	16839397	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gaggaggacaaactgctctgCcaatttctggatttctttat	10	14	9	8	0	3	0	0	0	3	0	3	4	3	3	1	3	3	1	1	3	3	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:16839397C>T	ENST00000419304.2	-	5	453	c.301G>A	c.(301-303)Gca>Aca	p.A101T	AGR2_ENST00000419572.2_Missense_Mutation_p.A121T|AGR2_ENST00000401412.1_Missense_Mutation_p.A101T	NM_006408.3	NP_006399.1	O95994	AGR2_HUMAN	anterior gradient 2	101					lung goblet cell differentiation (GO:0060480)|mucus secretion (GO:0070254)	endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)	dystroglycan binding (GO:0002162)			endometrium(2)|lung(1)|prostate(1)|skin(2)	6	Lung NSC(10;0.0376)|all_lung(11;0.0855)			UCEC - Uterine corpus endometrioid carcinoma (126;0.184)		AACTGCTCTGCCAATTTCTGG	0.318																																						ENST00000419304.2																			0				endometrium(2)|lung(1)|prostate(1)|skin(2)	6						c.(301-303)Gca>Aca		anterior gradient 2							160	162	161					7																	16839397		2203	4300	6503	SO:0001583	missense	10551				mucus secretion	endoplasmic reticulum|extracellular region	protein binding	g.chr7:16839397C>T	AF038451	CCDS5364.1	7p21.3	2013-07-31	2013-07-31		ENSG00000106541	ENSG00000106541		"Protein disulfide isomerases"	328	protein-coding gene	gene with protein product	"protein disulfide isomerase family A, member 17"	606358	"anterior gradient 2 homolog (Xenopus laevis)"			9790916	Standard	NM_006408		Approved	XAG-2, HAG-2, AG2, PDIA17	uc003str.3	O95994	OTTHUMG00000023446	ENST00000419304.2:c.301G>A	7.37:g.16839397C>T	ENSP00000391490:p.Ala101Thr					AGR2_ENST00000419572.2_Missense_Mutation_p.A121T|AGR2_ENST00000401412.1_Missense_Mutation_p.A101T	p.A101T	NM_006408.3	NP_006399.1	O95994	AGR2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.184)	5	453	-	Lung NSC(10;0.0376)|all_lung(11;0.0855)		101						Missense_Mutation	SNP	ENST00000419304.2	37	c.301G>A	CCDS5364.1	.	.	.	.	.	.	.	.	.	.	C	26.8	4.775322	0.90108	.	.	ENSG00000106541	ENST00000419304;ENST00000450569;ENST00000419572;ENST00000401412;ENST00000412973	T;T;T;T	0.43294	0.95;0.95;0.95;0.95	5.37	5.37	0.77165	Thioredoxin-like fold (2);	0.117022	0.56097	D	0.000027	T	0.71693	0.3370	M	0.91300	3.195	0.52501	D	0.99995	D	0.62365	0.991	D	0.65010	0.931	T	0.79105	-0.1940	10	0.87932	D	0	-17.2625	18.7411	0.91773	0.0:1.0:0.0:0.0	.	101	O95994	AGR2_HUMAN	T	101;31;121;101;101	ENSP00000391490:A101T;ENSP00000388342:A121T;ENSP00000386025:A101T;ENSP00000411969:A101T	ENSP00000386025:A101T	A	-	1	0	AGR2	16805922	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	4.727000	0.61993	2.523000	0.85059	0.555000	0.69702	GCA		0.318	AGR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207594.2	NM_006408		15	35	0	0	0	1	0	15	35					T	16839397	C	T	16839397	3	4	435	1	0	0	0	0	1	0	0	0	395	739	26	3	242	3	AGR2	7	16839397	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	583684	16839397	142299266	3504	24429											
SNX13	23161	broad.mit.edu	37	chr7	17861183	17861183	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aagtcactataacgacgataGgttttccacatctcctcact	12	12	5	12	2	3	0	2	0	1	0	5	2	4	0	2	1	1	1	2	1	4	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:17861183G>T	ENST00000409389.1	-	18	1999	c.1827C>A	c.(1825-1827)acC>acA	p.T609T	SNX13_ENST00000496855.1_5'UTR|SNX13_ENST00000428135.3_Silent_p.T598T			Q9Y5W8	SNX13_HUMAN	sorting nexin 13	609	PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.				intracellular protein transport (GO:0006886)|positive regulation of GTPase activity (GO:0043547)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	early endosome (GO:0005769)|membrane (GO:0016020)	phosphatidylinositol binding (GO:0035091)			breast(1)|central_nervous_system(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(13)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38	Lung NSC(10;0.0261)|all_lung(11;0.0521)					AACGACGATAGGTTTTCCACA	0.398																																						ENST00000409389.1																			0				breast(1)|central_nervous_system(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(13)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38						c.(1825-1827)acC>acA		sorting nexin 13							169	166	167					7																	17861183		1934	4125	6059	SO:0001819	synonymous_variant	23161				cell communication|intracellular protein transport|negative regulation of signal transduction|positive regulation of GTPase activity	early endosome membrane	phosphatidylinositol binding|signal transducer activity	g.chr7:17861183G>T	AF420470	CCDS47551.1	7p21.1	2008-03-11			ENSG00000071189	ENSG00000071189		"Sorting nexins"	21335	protein-coding gene	gene with protein product		606589				11485546, 11729322	Standard	NM_015132		Approved	RGS-PX1, KIAA0713	uc003stv.3	Q9Y5W8	OTTHUMG00000152730	ENST00000409389.1:c.1827C>A	7.37:g.17861183G>T						SNX13_ENST00000496855.1_5'UTR|SNX13_ENST00000428135.3_Silent_p.T598T	p.T609T			Q9Y5W8	SNX13_HUMAN			18	1999	-	Lung NSC(10;0.0261)|all_lung(11;0.0521)		609			PX.		B2RCI9|O94821|Q8WVZ2|Q8WXH8	Silent	SNP	ENST00000409389.1	37	c.1827C>A																																																																																					0.398	SNX13-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000327608.1	NM_015132		34	70	1	0	1.836e-18	1	2.02631e-18	34	70					T	17861183	G	T	17861183	2	4	435	1	0	0	0	0	0	0	0	1	14884	987	35	5		5	SNX13	7	17861183	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	1021786	17861183	141277480	3505	24430											
PRPS1L1	221823	broad.mit.edu	37	chr7	18067046	18067046	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atggtgatgatatgatccgcAcctgctatagagagcatatt	12	12	10	7	1	0	4	0	3	0	1	1	5	1	4	2	1	2	3	2	1	4	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:18067046A>G	ENST00000506618.2	-	1	440	c.360T>C	c.(358-360)ggT>ggC	p.G120G		NM_175886.2	NP_787082	P21108	PRPS3_HUMAN	phosphoribosyl pyrophosphate synthetase 1-like 1	120					5-phosphoribose 1-diphosphate biosynthetic process (GO:0006015)|nucleotide biosynthetic process (GO:0009165)|ribonucleoside monophosphate biosynthetic process (GO:0009156)		ATP binding (GO:0005524)|kinase activity (GO:0016301)|magnesium ion binding (GO:0000287)|protein homodimerization activity (GO:0042803)|ribose phosphate diphosphokinase activity (GO:0004749)			endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(3)	18	Lung NSC(10;0.0385)|all_lung(11;0.0736)					TATGATCCGCACCTGCTATAG	0.468																																						ENST00000506618.2																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(3)	18						c.(358-360)ggT>ggC		phosphoribosyl pyrophosphate synthetase 1-like 1							148	147	147					7																	18067046		2203	4300	6503	SO:0001819	synonymous_variant	221823				nucleoside metabolic process|ribonucleoside monophosphate biosynthetic process		ATP binding|kinase activity|magnesium ion binding|protein homodimerization activity|ribose phosphate diphosphokinase activity	g.chr7:18067046A>G	M57423	CCDS47552.1	7p21.1	2010-12-10			ENSG00000229937	ENSG00000229937			9463	protein-coding gene	gene with protein product		611566		PRPSL		2168892	Standard	NM_175886		Approved	PRPS3	uc003stz.3	P21108	OTTHUMG00000152742	ENST00000506618.2:c.360T>C	7.37:g.18067046A>G							p.G120G	NM_175886.2	NP_787082.1	P21108	PRPS3_HUMAN			1	440	-	Lung NSC(10;0.0385)|all_lung(11;0.0736)		120					Q6P5P6	Silent	SNP	ENST00000506618.2	37	c.360T>C	CCDS47552.1																																																																																				0.468	PRPS1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327667.1	NM_175886		19	82	0	0	0	1	0	19	82					G	18067046	A	G	18067046	2	3	435	1	0	0	0	0	0	0	0	1	12579	146	6	4		4	PRPS1L1	7	18067046	Silent	SNP	A	TCGA-XK-AAIW-01A-11D-A41K-08	205863	18067046	141071617	3506	24431											
PRPS1L1	221823	broad.mit.edu	37	chr7	18067098	18067098	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggcagagattggggaccggCtcttatccttcttatcctgt	6	14	11	10	1	2	1	0	0	2	1	4	3	4	2	3	4	0	2	3	4	2	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:18067098C>T	ENST00000506618.2	-	1	388	c.308G>A	c.(307-309)aGc>aAc	p.S103N		NM_175886.2	NP_787082	P21108	PRPS3_HUMAN	phosphoribosyl pyrophosphate synthetase 1-like 1	103					5-phosphoribose 1-diphosphate biosynthetic process (GO:0006015)|nucleotide biosynthetic process (GO:0009165)|ribonucleoside monophosphate biosynthetic process (GO:0009156)		ATP binding (GO:0005524)|kinase activity (GO:0016301)|magnesium ion binding (GO:0000287)|protein homodimerization activity (GO:0042803)|ribose phosphate diphosphokinase activity (GO:0004749)			endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(3)	18	Lung NSC(10;0.0385)|all_lung(11;0.0736)					TGGGGACCGGCTCTTATCCTT	0.473																																						ENST00000506618.2																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(3)	18						c.(307-309)aGc>aAc		phosphoribosyl pyrophosphate synthetase 1-like 1							152	155	154					7																	18067098		2203	4300	6503	SO:0001583	missense	221823				nucleoside metabolic process|ribonucleoside monophosphate biosynthetic process		ATP binding|kinase activity|magnesium ion binding|protein homodimerization activity|ribose phosphate diphosphokinase activity	g.chr7:18067098C>T	M57423	CCDS47552.1	7p21.1	2010-12-10			ENSG00000229937	ENSG00000229937			9463	protein-coding gene	gene with protein product		611566		PRPSL		2168892	Standard	NM_175886		Approved	PRPS3	uc003stz.3	P21108	OTTHUMG00000152742	ENST00000506618.2:c.308G>A	7.37:g.18067098C>T	ENSP00000424595:p.Ser103Asn						p.S103N	NM_175886.2	NP_787082.1	P21108	PRPS3_HUMAN			1	388	-	Lung NSC(10;0.0385)|all_lung(11;0.0736)		103					Q6P5P6	Missense_Mutation	SNP	ENST00000506618.2	37	c.308G>A	CCDS47552.1	.	.	.	.	.	.	.	.	.	.	C	14.34	2.505202	0.44558	.	.	ENSG00000229937	ENST00000506618	D	0.91577	-2.87	4.47	3.59	0.41128	.	.	.	.	.	D	0.91600	0.7346	M	0.90977	3.165	.	.	.	B	0.13594	0.008	B	0.21917	0.037	D	0.92316	0.5862	8	0.66056	D	0.02	.	8.5591	0.33501	0.0:0.8945:0.0:0.1055	.	103	P21108	PRPS3_HUMAN	N	103	ENSP00000424595:S103N	ENSP00000424595:S103N	S	-	2	0	PRPS1L1	18033623	1.000000	0.71417	0.982000	0.44146	0.933000	0.57130	3.275000	0.51639	1.252000	0.44001	0.650000	0.86243	AGC		0.473	PRPS1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327667.1	NM_175886		18	95	0	0	0	1	0	18	95					T	18067098	C	T	18067098	3	4	435	1	0	0	0	0	1	0	0	0	12579	797	28	3	652	3	PRPS1L1	7	18067098	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	52	18067098	141071565	3507	24432											
ITGB8	3696	broad.mit.edu	37	chr7	20449610	20449610	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgctcatgaaactttcaggtGcaacttctaaaaaaagattt	15	13	6	7	0	3	2	2	1	1	1	3	2	3	2	0	1	4	2	0	1	6	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:20449610G>A	ENST00000222573.4	+	14	2984	c.2300G>A	c.(2299-2301)tGc>tAc	p.C767Y	ITGB8_ENST00000537992.1_Missense_Mutation_p.C632Y	NM_002214.2	NP_002205.1	P26012	ITB8_HUMAN	integrin, beta 8	767					cartilage development (GO:0051216)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|ganglioside metabolic process (GO:0001573)|integrin-mediated signaling pathway (GO:0007229)|negative regulation of gene expression (GO:0010629)|placenta blood vessel development (GO:0060674)|positive regulation of gene expression (GO:0010628)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integrin alphav-beta8 complex (GO:0034686)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	extracellular matrix protein binding (GO:1990430)|receptor activity (GO:0004872)			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(4)|stomach(2)|urinary_tract(1)	37						ACTTTCAGGTGCAACTTCTAA	0.338																																						ENST00000222573.3																			0				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(4)|stomach(2)|urinary_tract(1)	37						c.(2299-2301)tGc>tAc		integrin, beta 8							34	38	37					7																	20449610		2202	4297	6499	SO:0001583	missense	3696				cell-matrix adhesion|integrin-mediated signaling pathway|placenta blood vessel development	integrin complex	protein binding|receptor activity	g.chr7:20449610G>A		CCDS5370.1	7p15.3	2010-03-23			ENSG00000105855	ENSG00000105855		"Integrins"	6163	protein-coding gene	gene with protein product		604160					Standard	XM_005249751		Approved		uc003suu.3	P26012	OTTHUMG00000023594	ENST00000222573.4:c.2300G>A	7.37:g.20449610G>A	ENSP00000222573:p.Cys767Tyr					ITGB8_ENST00000537992.1_Missense_Mutation_p.C632Y	p.C767Y	NM_002214.2	NP_002205.1	P26012	ITB8_HUMAN			14	2984	+			767					A4D133|B4DHD4	Missense_Mutation	SNP	ENST00000222573.4	37	c.2300G>A	CCDS5370.1	.	.	.	.	.	.	.	.	.	.	G	18.85	3.710598	0.68730	.	.	ENSG00000105855	ENST00000537992;ENST00000222573	T;T	0.46451	0.87;0.87	5.97	5.97	0.96955	.	0.000000	0.64402	D	0.000001	T	0.60843	0.2300	L	0.44542	1.39	0.58432	D	0.999999	D	0.76494	0.999	D	0.83275	0.996	T	0.60016	-0.7345	10	0.87932	D	0	.	20.4135	0.99023	0.0:0.0:1.0:0.0	.	767	P26012	ITB8_HUMAN	Y	632;767	ENSP00000441561:C632Y;ENSP00000222573:C767Y	ENSP00000222573:C767Y	C	+	2	0	ITGB8	20416135	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.473000	0.73572	2.835000	0.97688	0.591000	0.81541	TGC		0.338	ITGB8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059915.3	NM_002214		5	34	0	0	0	1	0	5	34					A	20449610	G	A	20449610	3	1	435	1	0	0	0	0	1	0	0	0	7901	1319	46	3	2354	3	ITGB8	7	20449610	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	2382512	20449610	138689053	3508	24433											
ABCB5	340273	broad.mit.edu	37	chr7	20721257	20721257	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atgctgaactaatggcaaaaCgaggtctatattattcactt	14	13	7	7	1	2	1	1	1	1	0	2	2	2	1	0	2	3	2	0	2	7	6			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:20721257C>T	ENST00000404938.2	+	15	2489	c.1837C>T	c.(1837-1839)Cga>Tga	p.R613*	ABCB5_ENST00000258738.6_Nonsense_Mutation_p.R168*	NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 5	613	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-dependent (GO:0002485)|antigen processing and presentation of endogenous peptide antigen via MHC class Ib via ER pathway, TAP-dependent (GO:0002489)|antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent (GO:0002481)|cell differentiation (GO:0030154)|compound eye corneal lens development (GO:0048058)|positive regulation of antigen processing and presentation of peptide antigen via MHC class I (GO:0002591)|regulation of membrane potential (GO:0042391)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|efflux transmembrane transporter activity (GO:0015562)			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						AATGGCAAAACGAGGTCTATA	0.418																																						ENST00000404938.2																			0				breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						c.(1837-1839)Cga>Tga		ATP-binding cassette, sub-family B (MDR/TAP), member 5							171	143	153					7																	20721257		2203	4300	6503	SO:0001587	stop_gained	340273				regulation of membrane potential	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus	ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity	g.chr7:20721257C>T	U66692	CCDS5371.1, CCDS55090.1, CCDS55091.1, CCDS55092.1	7p14	2012-03-14			ENSG00000004846	ENSG00000004846		"ATP binding cassette transporters / subfamily B"	46	protein-coding gene	gene with protein product	"P-glycoprotein ABCB5", "ATP-binding cassette protein"	611785				8894702, 12960149	Standard	NM_001163942		Approved	EST422562, ABCB5beta, ABCB5alpha	uc010kuh.3	Q2M3G0	OTTHUMG00000094789	ENST00000404938.2:c.1837C>T	7.37:g.20721257C>T	ENSP00000384881:p.Arg613*					ABCB5_ENST00000258738.6_Nonsense_Mutation_p.R168*	p.R613*	NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN			15	2489	+			168			ABC transporter 2.		A4D131|A7BKA4|B5MD19|B7WPL1|F8QQP8|F8QQP9|J3KQ04|Q2M3I5|Q5I5Q7|Q5I5Q8|Q6KG50|Q6XFQ5|Q8IXA1	Nonsense_Mutation	SNP	ENST00000404938.2	37	c.1837C>T	CCDS55090.1	.	.	.	.	.	.	.	.	.	.	C	37	6.235343	0.97399	.	.	ENSG00000004846	ENST00000404938;ENST00000258738	.	.	.	4.67	1.72	0.24424	.	0.533157	0.16215	N	0.224295	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.44086	T	0.13	.	7.5286	0.27671	0.3139:0.3804:0.3057:0.0	.	.	.	.	X	613;168	.	ENSP00000258738:R168X	R	+	1	2	ABCB5	20687782	0.876000	0.30132	0.200000	0.23457	0.108000	0.19459	1.500000	0.35682	0.387000	0.25024	0.655000	0.94253	CGA		0.418	ABCB5-004	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000326736.2	NM_178559		32	39	0	0	0	1	0	32	39					T	20721257	C	T	20721257	4	4	435	1	0	0	0	0	0	1	0	0	44	528	19	1	1932	1	ABCB5	7	20721257	Nonsense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	271647	20721257	138417406	3509	24434											
ABCB5	340273	broad.mit.edu	37	chr7	20766690	20766690	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctgaagctttggagaatataCgtactatagtgtcattaaca	14	13	8	6	1	1	2	1	1	0	1	1	3	1	2	0	1	4	2	0	1	8	7			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:20766690C>T	ENST00000404938.2	+	22	3305	c.2653C>T	c.(2653-2655)Cgt>Tgt	p.R885C	ABCB5_ENST00000258738.6_Missense_Mutation_p.R440C	NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 5	885	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.				antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-dependent (GO:0002485)|antigen processing and presentation of endogenous peptide antigen via MHC class Ib via ER pathway, TAP-dependent (GO:0002489)|antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent (GO:0002481)|cell differentiation (GO:0030154)|compound eye corneal lens development (GO:0048058)|positive regulation of antigen processing and presentation of peptide antigen via MHC class I (GO:0002591)|regulation of membrane potential (GO:0042391)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|efflux transmembrane transporter activity (GO:0015562)			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						GGAGAATATACGTACTATAGT	0.323																																						ENST00000404938.2																			0				breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						c.(2653-2655)Cgt>Tgt		ATP-binding cassette, sub-family B (MDR/TAP), member 5							95	100	99					7																	20766690		2203	4300	6503	SO:0001583	missense	340273				regulation of membrane potential	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus	ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity	g.chr7:20766690C>T	U66692	CCDS5371.1, CCDS55090.1, CCDS55091.1, CCDS55092.1	7p14	2012-03-14			ENSG00000004846	ENSG00000004846		"ATP binding cassette transporters / subfamily B"	46	protein-coding gene	gene with protein product	"P-glycoprotein ABCB5", "ATP-binding cassette protein"	611785				8894702, 12960149	Standard	NM_001163942		Approved	EST422562, ABCB5beta, ABCB5alpha	uc010kuh.3	Q2M3G0	OTTHUMG00000094789	ENST00000404938.2:c.2653C>T	7.37:g.20766690C>T	ENSP00000384881:p.Arg885Cys					ABCB5_ENST00000258738.6_Missense_Mutation_p.R440C	p.R885C	NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN			22	3305	+			440					A4D131|A7BKA4|B5MD19|B7WPL1|F8QQP8|F8QQP9|J3KQ04|Q2M3I5|Q5I5Q7|Q5I5Q8|Q6KG50|Q6XFQ5|Q8IXA1	Missense_Mutation	SNP	ENST00000404938.2	37	c.2653C>T	CCDS55090.1	.	.	.	.	.	.	.	.	.	.	C	18.47	3.630084	0.67015	.	.	ENSG00000004846	ENST00000404938;ENST00000258738	D;D	0.91996	-2.95;-2.95	4.54	3.66	0.41972	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.000000	0.64402	D	0.000013	D	0.96839	0.8968	H	0.95114	3.625	0.58432	D	0.999996	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.97146	0.9828	10	0.87932	D	0	.	11.2028	0.48751	0.0:0.9093:0.0:0.0907	.	885;63;440	A7BKA4;A0ASV4;Q2M3G0	.;.;ABCB5_HUMAN	C	885;440	ENSP00000384881:R885C;ENSP00000258738:R440C	ENSP00000258738:R440C	R	+	1	0	ABCB5	20733215	0.980000	0.34600	0.997000	0.53966	0.992000	0.81027	1.176000	0.31957	1.510000	0.48803	0.655000	0.94253	CGT		0.323	ABCB5-004	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000326736.2	NM_178559		14	28	0	0	0	1	0	14	28					T	20766690	C	T	20766690	3	4	435	1	0	0	0	0	1	0	0	0	44	536	19	1	2776	1	ABCB5	7	20766690	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	45433	20766690	138371973	3510	24435											
SP4	6671	broad.mit.edu	37	chr7	21469341	21469341	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	caaatcaatccaactagtagTtcatctctacaggatttgca	14	12	5	10	0	3	0	2	0	1	0	5	1	4	1	1	1	3	3	1	1	6	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:21469341T>C	ENST00000222584.3	+	3	776	c.558T>C	c.(556-558)agT>agC	p.S186S		NM_003112.3	NP_003103.2	Q02446	SP4_HUMAN	Sp4 transcription factor	186	Poly-Ser.				regulation of heart contraction (GO:0008016)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(11)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	35						CAACTAGTAGTTCATCTCTAC	0.393																																						ENST00000222584.3																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(11)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	35						c.(556-558)agT>agC		Sp4 transcription factor							78	75	76					7																	21469341		2203	4300	6503	SO:0001819	synonymous_variant	6671				regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|transcription coactivator activity|zinc ion binding	g.chr7:21469341T>C		CCDS5373.1	7p15	2013-01-08			ENSG00000105866	ENSG00000105866		"Specificity protein transcription factors", "Zinc fingers, C2H2-type"	11209	protein-coding gene	gene with protein product		600540				1454515	Standard	XM_005249828		Approved	SPR-1, HF1B, MGC130008, MGC130009	uc003sva.3	Q02446	OTTHUMG00000094801	ENST00000222584.3:c.558T>C	7.37:g.21469341T>C							p.S186S	NM_003112.3	NP_003103.2	Q02446	SP4_HUMAN			3	776	+			186			Poly-Ser.		O60402|Q32M52	Silent	SNP	ENST00000222584.3	37	c.558T>C	CCDS5373.1																																																																																				0.393	SP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211617.2	NM_003112		35	38	0	0	0	1	0	35	38					C	21469341	T	C	21469341	2	2	435	1	0	0	0	0	0	0	0	1	14966	1722	60	4		4	SP4	7	21469341	Silent	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	702651	21469341	137669322	3511	24436											
SP4	6671	broad.mit.edu	37	chr7	21469853	21469853	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atcagccagtagttctgaacGcaccattgaagaatctcaaa	15	9	7	10	1	3	3	2	2	2	1	4	3	3	3	2	0	2	3	2	0	5	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:21469853G>A	ENST00000222584.3	+	3	1288	c.1070G>A	c.(1069-1071)cGc>cAc	p.R357H		NM_003112.3	NP_003103.2	Q02446	SP4_HUMAN	Sp4 transcription factor	357					regulation of heart contraction (GO:0008016)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(11)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	35						AGTTCTGAACGCACCATTGAA	0.483																																						ENST00000222584.3																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(11)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	35						c.(1069-1071)cGc>cAc		Sp4 transcription factor							93	77	82					7																	21469853		2203	4300	6503	SO:0001583	missense	6671				regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|transcription coactivator activity|zinc ion binding	g.chr7:21469853G>A		CCDS5373.1	7p15	2013-01-08			ENSG00000105866	ENSG00000105866		"Specificity protein transcription factors", "Zinc fingers, C2H2-type"	11209	protein-coding gene	gene with protein product		600540				1454515	Standard	XM_005249828		Approved	SPR-1, HF1B, MGC130008, MGC130009	uc003sva.3	Q02446	OTTHUMG00000094801	ENST00000222584.3:c.1070G>A	7.37:g.21469853G>A	ENSP00000222584:p.Arg357His						p.R357H	NM_003112.3	NP_003103.2	Q02446	SP4_HUMAN			3	1288	+			357					O60402|Q32M52	Missense_Mutation	SNP	ENST00000222584.3	37	c.1070G>A	CCDS5373.1	.	.	.	.	.	.	.	.	.	.	G	9.223	1.033920	0.19590	.	.	ENSG00000105866	ENST00000222584	T	0.08807	3.05	4.85	4.85	0.62838	.	0.091536	0.47093	D	0.000256	T	0.04092	0.0114	N	0.08118	0	0.38327	D	0.943694	B	0.33904	0.431	B	0.29862	0.108	T	0.44967	-0.9293	10	0.45353	T	0.12	.	8.1136	0.30928	0.0914:0.1639:0.7447:0.0	.	357	Q02446	SP4_HUMAN	H	357	ENSP00000222584:R357H	ENSP00000222584:R357H	R	+	2	0	SP4	21436378	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.860000	0.55995	2.512000	0.84698	0.591000	0.81541	CGC		0.483	SP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211617.2	NM_003112		18	32	0	0	0	1	0	18	32					A	21469853	G	A	21469853	3	1	435	1	0	0	0	0	1	0	0	0	14966	1087	38	1	1080	1	SP4	7	21469853	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	512	21469853	137668810	3512	24437											
SP4	6671	broad.mit.edu	37	chr7	21550751	21550751	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	aggtggtgggacagctcttgCcattgttacctcgggagaac	8	10	14	9	1	1	1	0	0	1	1	2	3	1	2	2	4	4	2	2	4	2	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:21550751C>T	ENST00000222584.3	+	6	2437	c.2219C>T	c.(2218-2220)gCc>gTc	p.A740V		NM_003112.3	NP_003103.2	Q02446	SP4_HUMAN	Sp4 transcription factor	740					regulation of heart contraction (GO:0008016)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(11)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	35						ACAGCTCTTGCCATTGTTACC	0.458																																						ENST00000222584.3																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(11)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	35						c.(2218-2220)gCc>gTc		Sp4 transcription factor							127	122	124					7																	21550751		2203	4300	6503	SO:0001583	missense	6671				regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|transcription coactivator activity|zinc ion binding	g.chr7:21550751C>T		CCDS5373.1	7p15	2013-01-08			ENSG00000105866	ENSG00000105866		"Specificity protein transcription factors", "Zinc fingers, C2H2-type"	11209	protein-coding gene	gene with protein product		600540				1454515	Standard	XM_005249828		Approved	SPR-1, HF1B, MGC130008, MGC130009	uc003sva.3	Q02446	OTTHUMG00000094801	ENST00000222584.3:c.2219C>T	7.37:g.21550751C>T	ENSP00000222584:p.Ala740Val						p.A740V	NM_003112.3	NP_003103.2	Q02446	SP4_HUMAN			6	2437	+			740					O60402|Q32M52	Missense_Mutation	SNP	ENST00000222584.3	37	c.2219C>T	CCDS5373.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.317248	0.81469	.	.	ENSG00000105866	ENST00000222584	T	0.06768	3.26	5.26	5.26	0.73747	.	0.233522	0.42964	D	0.000635	T	0.06781	0.0173	N	0.08118	0	0.51233	D	0.999916	P	0.42827	0.791	B	0.40982	0.345	T	0.43081	-0.9413	10	0.52906	T	0.07	.	18.8623	0.92278	0.0:1.0:0.0:0.0	.	740	Q02446	SP4_HUMAN	V	740	ENSP00000222584:A740V	ENSP00000222584:A740V	A	+	2	0	SP4	21517276	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.487000	0.81328	2.469000	0.83416	0.591000	0.81541	GCC		0.458	SP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211617.2	NM_003112		31	27	0	0	0	1	0	31	27					T	21550751	C	T	21550751	3	4	435	1	0	0	0	0	1	0	0	0	14966	739	26	3	2241	3	SP4	7	21550751	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	80898	21550751	137587912	3513	24438											
DNAH11	8701	broad.mit.edu	37	chr7	21628905	21628905	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgcttgatcaatttgaaagtCgtatctataatgaatggaaa	15	14	8	4	1	2	3	1	3	1	0	3	4	2	4	0	1	1	2	0	1	7	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:21628905C>T	ENST00000409508.3	+	12	2084	c.2053C>T	c.(2053-2055)Cgt>Tgt	p.R685C	DNAH11_ENST00000328843.6_Missense_Mutation_p.R685C	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	685	Stem. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						ATTTGAAAGTCGTATCTATAA	0.333									Kartagener syndrome																													ENST00000328843.6																			0				NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						c.(2053-2055)Cgt>Tgt		dynein, axonemal, heavy chain 11							115	110	111					7																	21628905		1825	4078	5903	SO:0001583	missense	8701	Kartagener syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr7:21628905C>T	U83569	CCDS64602.1	7p21	2008-07-18	2006-09-04					"Axonemal dyneins"	2942	protein-coding gene	gene with protein product	"dynein, ciliary, heavy chain 11", "dynein, heavy chain beta-like"	603339	"dynein, axonemal, heavy polypeptide 11"			9256245	Standard	NM_001277115		Approved	Dnahc11, DPL11, CILD7, DNAHC11, DNAHBL, DNHBL	uc031swp.1	Q96DT5		ENST00000409508.3:c.2053C>T	7.37:g.21628905C>T	ENSP00000475939:p.Arg685Cys					DNAH11_ENST00000409508.3_Missense_Mutation_p.R685C	p.R685C			Q96DT5	DYH11_HUMAN			12	2084	+			685			Stem (By similarity).		Q9UJ82	Missense_Mutation	SNP	ENST00000409508.3	37	c.2053C>T		.	.	.	.	.	.	.	.	.	.	C	6.871	0.530105	0.13127	.	.	ENSG00000105877	ENST00000328843	T	0.57273	0.41	5.58	2.28	0.28536	Dynein heavy chain, domain-1 (1);	5.163710	0.00873	U	0.002048	T	0.44095	0.1277	.	.	.	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.33266	-0.9875	9	0.59425	D	0.04	.	6.8795	0.24164	0.0:0.6258:0.1396:0.2346	.	685	Q96DT5	DYH11_HUMAN	C	685	ENSP00000330671:R685C	ENSP00000330671:R685C	R	+	1	0	DNAH11	21595430	0.000000	0.05858	0.275000	0.24674	0.215000	0.24574	-0.818000	0.04467	0.689000	0.31550	0.650000	0.86243	CGT		0.333	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000326582.6	NM_003777		23	25	0	0	0	1	0	23	25					T	21628905	C	T	21628905	3	4	435	1	0	0	0	0	1	0	0	0	4599	884	31	2	2099	2	DNAH11	7	21628905	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	78154	21628905	137509758	3514	24439											
DNAH11	8701	broad.mit.edu	37	chr7	21827038	21827038	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggttgatgattttttgcaagCattaattaactatgacaaag	14	15	8	4	0	0	3	0	3	0	0	0	3	0	3	0	1	3	3	0	1	5	7			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:21827038C>T	ENST00000409508.3	+	60	9792	c.9761C>T	c.(9760-9762)gCa>gTa	p.A3254V	DNAH11_ENST00000328843.6_Missense_Mutation_p.A3261V	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	3261	Stalk. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						TTTTTGCAAGCATTAATTAAC	0.343									Kartagener syndrome																													ENST00000328843.6																			0				NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						c.(9781-9783)gCa>gTa		dynein, axonemal, heavy chain 11							82	79	80					7																	21827038		1824	4086	5910	SO:0001583	missense	8701	Kartagener syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr7:21827038C>T	U83569	CCDS64602.1	7p21	2008-07-18	2006-09-04					"Axonemal dyneins"	2942	protein-coding gene	gene with protein product	"dynein, ciliary, heavy chain 11", "dynein, heavy chain beta-like"	603339	"dynein, axonemal, heavy polypeptide 11"			9256245	Standard	NM_001277115		Approved	Dnahc11, DPL11, CILD7, DNAHC11, DNAHBL, DNHBL	uc031swp.1	Q96DT5		ENST00000409508.3:c.9761C>T	7.37:g.21827038C>T	ENSP00000475939:p.Ala3254Val					DNAH11_ENST00000409508.3_Missense_Mutation_p.A3254V	p.A3261V			Q96DT5	DYH11_HUMAN			61	9813	+			3261			Stalk (By similarity).		Q9UJ82	Missense_Mutation	SNP	ENST00000409508.3	37	c.9782C>T		.	.	.	.	.	.	.	.	.	.	C	20.9	4.071065	0.76301	.	.	ENSG00000105877	ENST00000328843	T	0.74947	-0.89	5.74	5.74	0.90152	Dynein heavy chain, coiled coil stalk (1);	0.334374	0.30575	N	0.009325	D	0.86024	0.5834	.	.	.	0.80722	D	1	D	0.89917	1.0	D	0.74023	0.982	D	0.86680	0.1916	9	0.59425	D	0.04	.	16.1985	0.82046	0.1335:0.8665:0.0:0.0	.	3261	Q96DT5	DYH11_HUMAN	V	3261	ENSP00000330671:A3261V	ENSP00000330671:A3261V	A	+	2	0	DNAH11	21793563	0.998000	0.40836	0.992000	0.48379	0.979000	0.70002	3.843000	0.55865	2.710000	0.92621	0.563000	0.77884	GCA		0.343	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000326582.6	NM_003777		14	32	0	0	0	1	0	14	32					T	21827038	C	T	21827038	3	4	435	1	0	0	0	0	1	0	0	0	4599	710	25	3	10021	3	DNAH11	7	21827038	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	198133	21827038	137311625	3515	24440											
TOMM7	54543	broad.mit.edu	37	chr7	22862308	22862308	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccactgacccaggtaaatcaCaagagggataaagccccagc	15	4	9	13	0	1	2	1	1	0	1	1	3	1	3	4	2	2	1	4	2	5	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:22862308C>T	ENST00000358435.4	-	1	162	c.91G>A	c.(91-93)Gtg>Atg	p.V31M	TOMM7_ENST00000405021.3_5'Flank|TOMM7_ENST00000463284.1_5'UTR|TOMM7_ENST00000372879.4_Missense_Mutation_p.V31M	NM_019059.2	NP_061932.1	Q9P0U1	TOM7_HUMAN	translocase of outer mitochondrial membrane 7 homolog (yeast)	31					cellular protein metabolic process (GO:0044267)|protein import into mitochondrial matrix (GO:0030150)|protein targeting to mitochondrion (GO:0006626)	integral component of membrane (GO:0016021)|mitochondrial outer membrane translocase complex (GO:0005742)|mitochondrion (GO:0005739)	protein transmembrane transporter activity (GO:0008320)			skin(1)	1						AGGTAAATCACAAGAGGGATA	0.587																																						ENST00000358435.4																			0				skin(1)	1						c.(91-93)Gtg>Atg		translocase of outer mitochondrial membrane 7 homolog (yeast)							131	124	126					7																	22862308		2203	4300	6503	SO:0001583	missense	54543				protein targeting to mitochondrion	integral to membrane|mitochondrial outer membrane translocase complex	P-P-bond-hydrolysis-driven protein transmembrane transporter activity	g.chr7:22862308C>T	AF150733	CCDS5376.1	7p15.3	2003-07-21			ENSG00000196683	ENSG00000196683			21648	protein-coding gene	gene with protein product		607980				10647823, 12198123	Standard	NM_019059		Approved		uc003svk.4	Q9P0U1	OTTHUMG00000094805	ENST00000358435.4:c.91G>A	7.37:g.22862308C>T	ENSP00000351214:p.Val31Met					TOMM7_ENST00000372879.4_Missense_Mutation_p.V31M|TOMM7_ENST00000463284.1_5'UTR	p.V31M	NM_019059.2	NP_061932.1	Q9P0U1	TOM7_HUMAN			1	162	-			31					O95939	Missense_Mutation	SNP	ENST00000358435.4	37	c.91G>A	CCDS5376.1	.	.	.	.	.	.	.	.	.	.	C	19.77	3.889663	0.72524	.	.	ENSG00000196683	ENST00000358435;ENST00000372879	.	.	.	5.97	5.08	0.68730	.	0.000000	0.85682	D	0.000000	T	0.58221	0.2107	.	.	.	0.46356	D	0.999006	B	0.22851	0.076	B	0.27076	0.076	T	0.57522	-0.7797	8	0.56958	D	0.05	-16.6949	14.3772	0.66886	0.0:0.852:0.148:0.0	.	31	Q9P0U1	TOM7_HUMAN	M	31	.	ENSP00000351214:V31M	V	-	1	0	TOMM7	22828833	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	6.407000	0.73280	1.496000	0.48567	0.655000	0.94253	GTG		0.587	TOMM7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211623.1	NM_019059		49	53	0	0	0	1	0	49	53					T	22862308	C	T	22862308	3	4	435	1	0	0	0	0	1	0	0	0	16358	478	17	3	88	3	TOMM7	7	22862308	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	1035270	22862308	136276355	3516	24441											
KLHL7	55975	broad.mit.edu	37	chr7	23205409	23205409	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtagtatacattttgggaggCtctcagcttttcccaataaa	11	14	8	8	0	1	0	1	0	1	0	3	1	2	1	1	2	2	4	1	2	6	8			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:23205409C>T	ENST00000339077.5	+	8	1272	c.1029C>T	c.(1027-1029)ggC>ggT	p.G343G	KLHL7_ENST00000542558.1_Silent_p.G118G|KLHL7_ENST00000409689.1_Silent_p.G295G|KLHL7_ENST00000545443.1_Silent_p.G321G|KLHL7_ENST00000539124.1_Silent_p.G267G|KLHL7_ENST00000322231.7_Silent_p.G321G	NM_001031710.2	NP_001026880.2	Q8IXQ5	KLHL7_HUMAN	kelch-like family member 7	343					protein ubiquitination (GO:0016567)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						TTTTGGGAGGCTCTCAGCTTT	0.473																																						ENST00000322231.7																			0				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						c.(961-963)ggC>ggT		kelch-like family member 7							83	82	82					7																	23205409		2203	4300	6503	SO:0001819	synonymous_variant	55975					Golgi apparatus|nucleolus|plasma membrane		g.chr7:23205409C>T		CCDS5378.1, CCDS34609.1, CCDS5378.2, CCDS55095.1	7p15.3	2013-01-30	2013-01-30		ENSG00000122550	ENSG00000122550		"Kelch-like", "BTB/POZ domain containing"	15646	protein-coding gene	gene with protein product	"retinitis pigmentosa 42"	611119	"kelch-like 7 (Drosophila)"			19520207	Standard	NM_001031710		Approved	KLHL6, SBBI26, RP42	uc003svs.4	Q8IXQ5	OTTHUMG00000094813	ENST00000339077.5:c.1029C>T	7.37:g.23205409C>T						KLHL7_ENST00000542558.1_Silent_p.G118G|KLHL7_ENST00000409689.1_Silent_p.G295G|KLHL7_ENST00000339077.4_Silent_p.G343G|KLHL7_ENST00000539124.1_Silent_p.G267G|KLHL7_ENST00000545443.1_Silent_p.G321G	p.G321G			Q8IXQ5	KLHL7_HUMAN			9	1453	+			343					A4D144|B7Z5I9|G5E9G3|Q7Z765|Q96MV2|Q9BQF8|Q9UDQ9	Silent	SNP	ENST00000339077.5	37	c.963C>T	CCDS34609.1																																																																																				0.473	KLHL7-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326860.3	NM_018846		11	41	0	0	0	1	0	11	41					T	23205409	C	T	23205409	2	4	435	1	0	0	0	0	0	0	0	1	8394	784	28	3		3	KLHL7	7	23205409	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	343101	23205409	135933254	3517	24442											
NUPL2	11097	broad.mit.edu	37	chr7	23235498	23235498	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gaggaattgaggcttgaataCcataacttcttaaccagcaa	15	10	8	8	0	1	2	0	2	1	0	1	4	1	3	2	2	4	2	2	2	6	6			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:23235498C>T	ENST00000258742.5	+	4	745	c.486C>T	c.(484-486)taC>taT	p.Y162Y	NUPL2_ENST00000487595.1_3'UTR	NM_007342.2	NP_031368.1	O15504	NUPL2_HUMAN	nucleoporin like 2	162	Interaction with HIV-1 Vpr.				carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein export from nucleus (GO:0006611)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nuclear export signal receptor activity (GO:0005049)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(4)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						GGCTTGAATACCATAACTTCT	0.318																																						ENST00000258742.5																			0				breast(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(4)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(484-486)taC>taT		nucleoporin like 2							87	81	83					7																	23235498		2203	4299	6502	SO:0001819	synonymous_variant	11097				carbohydrate metabolic process|glucose transport|mRNA transport|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear membrane|nuclear pore	nuclear export signal receptor activity|nucleic acid binding|zinc ion binding	g.chr7:23235498C>T	U97198	CCDS5379.1	7p15	2003-08-07			ENSG00000136243	ENSG00000136243			17010	protein-coding gene	gene with protein product	"nucleoporin-like protein 1"					10358091, 9450185	Standard	NM_007342		Approved	NLP_1, CG1, hCG1, H_RG271G13.9	uc003svu.3	O15504	OTTHUMG00000096955	ENST00000258742.5:c.486C>T	7.37:g.23235498C>T						NUPL2_ENST00000487595.1_3'UTR	p.Y162Y	NM_007342.2	NP_031368.1	O15504	NUPL2_HUMAN			4	745	+			162			Interaction with HIV-1 Vpr.		A4D143|B4DP42|Q49AE7|Q9BS49	Silent	SNP	ENST00000258742.5	37	c.486C>T	CCDS5379.1																																																																																				0.318	NUPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214017.2	NM_007342		25	43	0	0	0	1	0	25	43					T	23235498	C	T	23235498	2	4	435	1	0	0	0	0	0	0	0	1	10775	518	18	3		3	NUPL2	7	23235498	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	30089	23235498	135903165	3518	24443											
MPP6	51678	broad.mit.edu	37	chr7	24705640	24705640	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tttgttttatcatccttcagGacctttttgtggaactataa	9	19	6	7	0	2	0	2	0	0	0	3	2	3	2	2	2	1	1	2	2	4	8			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:24705640G>A	ENST00000222644.5	+	8	1134	c.884G>A	c.(883-885)gGa>gAa	p.G295E	MPP6_ENST00000396475.2_Splice_Site_p.G295E|MPP6_ENST00000409761.1_Splice_Site_p.G183E			Q99547	MPH6_HUMAN	membrane protein, palmitoylated 6 (MAGUK p55 subfamily member 6)	0					maturation of 5.8S rRNA (GO:0000460)	cytoplasm (GO:0005737)|exosome (RNase complex) (GO:0000178)|nucleolus (GO:0005730)|nucleus (GO:0005634)	RNA binding (GO:0003723)			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|pancreas(1)|skin(2)	20						CATCCTTCAGGACCTTTTTGT	0.328																																						ENST00000396475.2																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|pancreas(1)|skin(2)	20						c.e9-1		membrane protein, palmitoylated 6 (MAGUK p55 subfamily member 6)							82	95	91					7																	24705640		2202	4297	6499	SO:0001630	splice_region_variant	51678				protein complex assembly		protein binding	g.chr7:24705640G>A	AF162130	CCDS5388.1	7p15	2007-08-01			ENSG00000105926	ENSG00000105926			18167	protein-coding gene	gene with protein product		606959				10753959, 11311936	Standard	NM_016447		Approved	PALS2, VAM-1, p55T	uc003swx.3	Q9NZW5	OTTHUMG00000023507	ENST00000222644.5:c.884-1G>A	7.37:g.24705640G>A						MPP6_ENST00000222644.4_Splice_Site_p.G295_splice|MPP6_ENST00000409761.1_Splice_Site_p.G183_splice	p.G295_splice	NM_016447.2	NP_057531.2	Q9NZW5	MPP6_HUMAN			9	1183	+			295					B2RAF0	Splice_Site	SNP	ENST00000222644.5	37	c.883_splice	CCDS5388.1	.	.	.	.	.	.	.	.	.	.	G	14.09	2.431472	0.43122	.	.	ENSG00000105926	ENST00000222644;ENST00000409761;ENST00000396475;ENST00000430180	D;D;D;D	0.82433	-1.61;-1.61;-1.61;-1.61	5.32	5.32	0.75619	Src homology-3 domain (1);	0.000000	0.53938	D	0.000054	T	0.74627	0.3741	N	0.25332	0.735	0.80722	D	1	B	0.28378	0.209	B	0.24701	0.055	T	0.70085	-0.4969	9	.	.	.	.	18.9769	0.92740	0.0:0.0:1.0:0.0	.	295	Q9NZW5	MPP6_HUMAN	E	295;183;295;295	ENSP00000222644:G295E;ENSP00000386262:G183E;ENSP00000379737:G295E;ENSP00000391020:G295E	.	G	+	2	0	MPP6	24672165	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.794000	0.85869	2.477000	0.83638	0.591000	0.81541	GGA		0.328	MPP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250272.4		Missense_Mutation	31	42	0	0	0	1	0	31	42					A	24705640	G	A	24705640	5	1	435	1	0	0	0	0	0	0	1	0	9738	1188	41	3	910	3	MPP6	7	24705640	Splice_Site	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	1470142	24705640	134433023	3519	24444											
DFNA5	1687	broad.mit.edu	37	chr7	24742390	24742390	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttgcttaccaagtggcacaGtgtgggaatgatctggagtt	9	12	14	6	0	1	1	0	1	1	0	1	3	1	3	1	3	2	4	1	3	3	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:24742390G>A	ENST00000342947.3	-	9	1671	c.1246C>T	c.(1246-1248)Ctg>Ttg	p.L416L	DFNA5_ENST00000419307.1_Silent_p.L252L|DFNA5_ENST00000409970.1_Silent_p.L252L|DFNA5_ENST00000409775.3_Silent_p.L416L|DFNA5_ENST00000545231.1_Silent_p.L252L	NM_004403.2	NP_004394.1	O60443	DFNA5_HUMAN	deafness, autosomal dominant 5	416					apoptotic process (GO:0006915)|inner ear receptor cell differentiation (GO:0060113)|negative regulation of cell proliferation (GO:0008285)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(3)|stomach(1)	19						AAGTGGCACAGTGTGGGAATG	0.502																																					GBM(78;184 1250 20134 20900 23600)	ENST00000545231.1																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(3)|stomach(1)	19						c.(754-756)Ctg>Ttg		deafness, autosomal dominant 5							120	115	117					7																	24742390		2203	4300	6503	SO:0001819	synonymous_variant	1687				sensory perception of sound			g.chr7:24742390G>A	AF007790	CCDS5389.1, CCDS47563.1	7p15	2011-07-01			ENSG00000105928	ENSG00000105928			2810	protein-coding gene	gene with protein product		608798				8589696, 9450185	Standard	NM_004403		Approved	ICERE-1	uc010kus.1	O60443	OTTHUMG00000023237	ENST00000342947.3:c.1246C>T	7.37:g.24742390G>A						DFNA5_ENST00000409970.1_Silent_p.L252L|DFNA5_ENST00000409775.3_Silent_p.L416L|DFNA5_ENST00000419307.1_Silent_p.L252L|DFNA5_ENST00000342947.3_Silent_p.L416L	p.L252L			O60443	DFNA5_HUMAN			11	1904	-			416					A4D156|B2RAX9|B3KT05|O14590|Q08AQ8|Q9UBV3	Silent	SNP	ENST00000342947.3	37	c.754C>T	CCDS5389.1																																																																																				0.502	DFNA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214060.2	NM_004403		17	37	0	0	0	1	0	17	37					A	24742390	G	A	24742390	2	1	435	1	0	0	0	0	0	0	0	1	4454	1020	36	3		3	DFNA5	7	24742390	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	36750	24742390	134396273	3520	24445											
OSBPL3	26031	broad.mit.edu	37	chr7	24849506	24849506	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcccaaacagccgatgaaccGcttttccactcctgtcaaac	11	9	5	16	2	1	1	1	1	0	0	4	2	4	1	5	0	4	1	5	0	3	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:24849506G>A	ENST00000313367.2	-	20	2688	c.2237C>T	c.(2236-2238)gCg>gTg	p.A746V	OSBPL3_ENST00000352860.1_Missense_Mutation_p.A715V|OSBPL3_ENST00000431825.2_Missense_Mutation_p.A679V|OSBPL3_ENST00000396429.1_Missense_Mutation_p.A710V|OSBPL3_ENST00000409069.1_Missense_Mutation_p.A679V|OSBPL3_ENST00000396431.1_Missense_Mutation_p.A715V|OSBPL3_ENST00000487020.1_5'UTR|OSBPL3_ENST00000353930.1_Missense_Mutation_p.A710V	NM_015550.2	NP_056365.1	Q9H4L5	OSBL3_HUMAN	oxysterol binding protein-like 3	746					lipid transport (GO:0006869)	cytosol (GO:0005829)|membrane (GO:0016020)|nuclear membrane (GO:0031965)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)	cholesterol binding (GO:0015485)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(19)|prostate(1)|skin(3)|urinary_tract(1)	43						CCGATGAACCGCTTTTCCACT	0.488																																						ENST00000313367.2																			0				breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(19)|prostate(1)|skin(3)|urinary_tract(1)	43						c.(2236-2238)gCg>gTg		oxysterol binding protein-like 3							191	163	172					7																	24849506		2203	4300	6503	SO:0001583	missense	26031				lipid transport		lipid binding|protein binding	g.chr7:24849506G>A	AB014604	CCDS5390.1, CCDS5391.1, CCDS5392.1, CCDS47564.1	7p15.3	2013-01-10			ENSG00000070882	ENSG00000070882		"Oxysterol binding proteins", "Pleckstrin homology (PH) domain containing"	16370	protein-coding gene	gene with protein product		606732		OSBP3		9734811	Standard	XM_005249698		Approved	ORP-3, ORP3, KIAA0704	uc003sxf.3	Q9H4L5	OTTHUMG00000023277	ENST00000313367.2:c.2237C>T	7.37:g.24849506G>A	ENSP00000315410:p.Ala746Val					OSBPL3_ENST00000353930.1_Missense_Mutation_p.A710V|OSBPL3_ENST00000352860.1_Missense_Mutation_p.A715V|OSBPL3_ENST00000396429.1_Missense_Mutation_p.A710V|OSBPL3_ENST00000396431.1_Missense_Mutation_p.A715V|OSBPL3_ENST00000487020.1_5'UTR|OSBPL3_ENST00000431825.2_Missense_Mutation_p.A679V|OSBPL3_ENST00000409069.1_Missense_Mutation_p.A679V	p.A746V	NM_015550.2	NP_056365.1	Q9H4L5	OSBL3_HUMAN			20	2688	-			746					A4D167|A4D168|A4D169|A4D170|A4D171|A4D172|B8ZZ79|B8ZZP0|O14591|O43357|O43358|Q8N702|Q8N703|Q8N704|Q8NFH0|Q8NFH1|Q8NI12|Q8NI13|Q9BZF4|Q9UED6	Missense_Mutation	SNP	ENST00000313367.2	37	c.2237C>T	CCDS5390.1	.	.	.	.	.	.	.	.	.	.	G	0.188	-1.055612	0.01965	.	.	ENSG00000070882	ENST00000313367;ENST00000352860;ENST00000353930;ENST00000431825;ENST00000396431;ENST00000396429;ENST00000409069	T;T;T;T;T;T;T	0.28666	1.6;1.6;1.6;1.6;1.6;1.6;1.6	5.25	5.25	0.73442	.	0.118428	0.64402	D	0.000015	T	0.08133	0.0203	N	0.00980	-1.08	0.38137	D	0.938343	B;B;B;B	0.13594	0.007;0.007;0.002;0.008	B;B;B;B	0.11329	0.006;0.006;0.002;0.004	T	0.31998	-0.9923	10	0.02654	T	1	-11.3764	7.1605	0.25661	0.2095:0.0:0.7905:0.0	.	679;715;710;746	Q9H4L5-4;Q9H4L5-2;Q9H4L5-3;Q9H4L5	.;.;.;OSBL3_HUMAN	V	746;715;710;679;715;710;679	ENSP00000315410:A746V;ENSP00000315331:A715V;ENSP00000315277:A710V;ENSP00000389779:A679V;ENSP00000379708:A715V;ENSP00000379706:A710V;ENSP00000386953:A679V	ENSP00000315410:A746V	A	-	2	0	OSBPL3	24816031	1.000000	0.71417	0.040000	0.18447	0.009000	0.06853	4.446000	0.60014	2.610000	0.88304	0.557000	0.71058	GCG		0.488	OSBPL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214085.2			79	101	0	0	0	1	0	79	101					A	24849506	G	A	24849506	3	1	435	1	0	0	0	0	1	0	0	0	11279	1087	38	1	442	1	OSBPL3	7	24849506	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	107116	24849506	134289157	3521	24446											
C7orf31	136895	broad.mit.edu	37	chr7	25175697	25175697	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctagaattgatttatggaaaCgcttttgtgcaccagttttt	10	17	8	6	1	0	2	0	1	0	1	0	3	0	3	1	1	2	3	1	1	4	8			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:25175697C>T	ENST00000409280.1	-	10	1975	c.1667G>A	c.(1666-1668)cGt>cAt	p.R556H	C7orf31_ENST00000283905.3_Missense_Mutation_p.R556H			Q8N865	CG031_HUMAN	chromosome 7 open reading frame 31	556								p.R556H(1)		autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|skin(2)|stomach(1)	14						TTTATGGAAACGCTTTTGTGC	0.413																																						ENST00000409280.1																			1	Substitution - Missense(1)	p.R556H(1)	endometrium(1)	autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|skin(2)|stomach(1)	14						c.(1666-1668)cGt>cAt		chromosome 7 open reading frame 31							119	118	118					7																	25175697		2203	4300	6503	SO:0001583	missense	136895							g.chr7:25175697C>T	AK097248	CCDS5394.1	7p15.2	2011-11-24			ENSG00000153790	ENSG00000153790			21722	protein-coding gene	gene with protein product							Standard	NM_138811		Approved		uc003sxn.1	Q8N865	OTTHUMG00000128497	ENST00000409280.1:c.1667G>A	7.37:g.25175697C>T	ENSP00000386604:p.Arg556His					C7orf31_ENST00000283905.3_Missense_Mutation_p.R556H	p.R556H			Q8N865	CG031_HUMAN			10	1975	-			556					A4D165|Q6MZV8|Q6P989|Q7LE28|Q86XK1|Q8N1H5|Q96BN4	Missense_Mutation	SNP	ENST00000409280.1	37	c.1667G>A	CCDS5394.1	.	.	.	.	.	.	.	.	.	.	C	15.34	2.804797	0.50315	.	.	ENSG00000153790	ENST00000409280;ENST00000283905	T;T	0.07800	3.16;3.16	5.41	3.57	0.40892	.	0.200309	0.42682	D	0.000680	T	0.06600	0.0169	M	0.66939	2.045	0.19775	N	0.99996	P	0.42692	0.787	B	0.23275	0.045	T	0.39881	-0.9592	10	0.42905	T	0.14	-4.2669	5.8259	0.18554	0.142:0.635:0.0:0.223	.	556	Q8N865	CG031_HUMAN	H	556	ENSP00000386604:R556H;ENSP00000283905:R556H	ENSP00000283905:R556H	R	-	2	0	C7orf31	25142222	0.034000	0.19679	0.805000	0.32314	0.581000	0.36288	0.027000	0.13621	1.412000	0.46977	0.561000	0.74099	CGT		0.413	C7orf31-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326929.1	NM_138811		9	90	0	0	0	1	0	9	90					T	25175697	C	T	25175697	3	4	435	1	0	0	0	0	1	0	0	0	2387	536	19	1	109	1	C7orf31	7	25175697	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	326191	25175697	133962966	3522	24447											
HOXA2	3199	broad.mit.edu	37	chr7	27142053	27142053	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcgacagggggaaaagatgTcaggcactcagcgagcgacg	13	3	16	9	4	2	1	2	0	0	1	2	5	2	2	0	3	3	1	0	3	2	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:27142053T>A	ENST00000222718.5	-	1	377	c.67A>T	c.(67-69)Aca>Tca	p.T23S	HOTAIRM1_ENST00000425358.2_RNA|HOTAIRM1_ENST00000428939.3_RNA|HOTAIRM1_ENST00000593300.1_RNA|HOTAIRM1_ENST00000429611.3_RNA|HOTAIRM1_ENST00000434063.3_RNA	NM_006735.3	NP_006726.1	O43364	HXA2_HUMAN	homeobox A2	23					anterior/posterior pattern specification (GO:0009952)|brain segmentation (GO:0035284)|cell fate determination (GO:0001709)|dorsal/ventral pattern formation (GO:0009953)|embryonic viscerocranium morphogenesis (GO:0048703)|middle ear morphogenesis (GO:0042474)|motor neuron axon guidance (GO:0008045)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|osteoblast development (GO:0002076)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|rhombomere 2 development (GO:0021568)|rhombomere 3 morphogenesis (GO:0021658)|segment specification (GO:0007379)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(3)|cervix(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(1)	22						GGAAAAGATGTCAGGCACTCA	0.478																																						ENST00000222718.5																			0				breast(3)|cervix(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(1)	22						c.(67-69)Aca>Tca		homeobox A2							117	123	121					7																	27142053		2203	4300	6503	SO:0001583	missense	3199					nucleus	sequence-specific DNA binding transcription factor activity	g.chr7:27142053T>A		CCDS5403.1	7p15.2	2011-06-20	2005-12-22		ENSG00000105996	ENSG00000105996		"Homeoboxes / ANTP class : HOXL subclass"	5103	protein-coding gene	gene with protein product		604685	"homeo box A2"	HOX1K		1358459	Standard	NM_006735		Approved		uc003syh.3	O43364	OTTHUMG00000023208	ENST00000222718.5:c.67A>T	7.37:g.27142053T>A	ENSP00000222718:p.Thr23Ser						p.T23S	NM_006735.3	NP_006726.1	O43364	HXA2_HUMAN			1	377	-			23					A1L4K3|B2RMW3	Missense_Mutation	SNP	ENST00000222718.5	37	c.67A>T	CCDS5403.1	.	.	.	.	.	.	.	.	.	.	T	18.69	3.677872	0.68042	.	.	ENSG00000105996	ENST00000222718	T	0.10099	2.91	5.35	5.35	0.76521	.	0.000000	0.85682	D	0.000000	T	0.33118	0.0852	M	0.78456	2.415	0.58432	D	0.999998	D	0.61697	0.99	D	0.64410	0.925	T	0.09250	-1.0683	10	0.72032	D	0.01	.	15.3211	0.74124	0.0:0.0:0.0:1.0	.	23	O43364	HXA2_HUMAN	S	23	ENSP00000222718:T23S	ENSP00000222718:T23S	T	-	1	0	HOXA2	27108578	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.695000	0.68279	2.019000	0.59389	0.482000	0.46254	ACA		0.478	HOXA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358508.2			29	54	0	0	0	1	0	29	54					A	27142053	T	A	27142053	3	1	435	1	0	0	0	0	1	0	0	0	7292	1667	58	5	1071	5	HOXA2	7	27142053	Missense_Mutation	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	1966356	27142053	131996610	3523	24448											
HOXA3	3200	broad.mit.edu	37	chr7	27147884	27147884	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgcccctgccgccgtgtagcGcttctgtgggggtggcgggg	1	8	19	13	5	1	0	0	0	1	0	1	0	1	0	4	5	2	2	4	5	1	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:27147884G>A	ENST00000396352.4	-	3	1181	c.982C>T	c.(982-984)Cgc>Tgc	p.R328C	HOXA-AS2_ENST00000518088.1_RNA|HOXA3_ENST00000317201.2_Missense_Mutation_p.R328C|HOXA3_ENST00000521401.1_5'Flank	NM_030661.4	NP_109377.1	O43365	HXA3_HUMAN	homeobox A3	328					angiogenesis (GO:0001525)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|cervix(1)|endometrium(3)|large_intestine(4)|lung(18)|skin(1)	29						GCCGTGTAGCGCTTCTGTGGG	0.726																																					Esophageal Squamous(136;1368 1743 5685 7935 50360)	ENST00000396352.4																			0				breast(2)|cervix(1)|endometrium(3)|large_intestine(4)|lung(18)|skin(1)	29						c.(982-984)Cgc>Tgc		homeobox A3							6	8	7					7																	27147884		2050	4012	6062	SO:0001583	missense	3200				angiogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:27147884G>A		CCDS5404.1	7p15.2	2011-06-20	2005-12-22		ENSG00000105997	ENSG00000105997		"Homeoboxes / ANTP class : HOXL subclass"	5104	protein-coding gene	gene with protein product		142954	"homeo box A3"	HOX1E, HOX1		1973146, 1358459	Standard	XM_005249730		Approved		uc011jzl.2	O43365	OTTHUMG00000023209	ENST00000396352.4:c.982C>T	7.37:g.27147884G>A	ENSP00000379640:p.Arg328Cys					HOXA3_ENST00000317201.2_Missense_Mutation_p.R328C|HOXA-AS2_ENST00000518088.1_RNA	p.R328C	NM_030661.4	NP_109377.1	O43365	HXA3_HUMAN			3	1181	-			328					A4D181	Missense_Mutation	SNP	ENST00000396352.4	37	c.982C>T	CCDS5404.1	.	.	.	.	.	.	.	.	.	.	G	13.00	2.104964	0.37145	.	.	ENSG00000105997	ENST00000396352;ENST00000317201;ENST00000396350	D;D	0.86769	-2.17;-2.17	5.68	4.8	0.61643	.	0.046305	0.85682	D	0.000000	D	0.89842	0.6832	M	0.79123	2.44	0.80722	D	1	D	0.62365	0.991	P	0.50231	0.635	D	0.90827	0.4713	10	0.87932	D	0	.	13.1397	0.59428	0.0:0.0:0.5656:0.4344	.	328	O43365	HXA3_HUMAN	C	328;328;170	ENSP00000379640:R328C;ENSP00000324884:R328C	ENSP00000324884:R328C	R	-	1	0	HOXA3	27114409	1.000000	0.71417	1.000000	0.80357	0.869000	0.49853	3.812000	0.55628	1.395000	0.46643	0.655000	0.94253	CGC		0.726	HOXA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358708.2			4	3	0	0	0	1	0	4	3					A	27147884	G	A	27147884	3	1	435	1	0	0	0	0	1	0	0	0	7293	1087	38	1	353	1	HOXA3	7	27147884	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	5831	27147884	131990779	3524	24449											
HOXA3	3200	broad.mit.edu	37	chr7	27148262	27148262	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttctccagctccaccagctGcgcgctcgtgtaggccgtgc	4	10	11	16	4	1	0	0	0	1	0	4	0	2	0	4	1	4	4	4	1	1	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:27148262G>A	ENST00000396352.4	-	3	803	c.604C>T	c.(604-606)Cag>Tag	p.Q202*	HOXA-AS2_ENST00000518088.1_RNA|HOXA3_ENST00000317201.2_Nonsense_Mutation_p.Q202*|HOXA3_ENST00000521401.1_5'Flank	NM_030661.4	NP_109377.1	O43365	HXA3_HUMAN	homeobox A3	202					angiogenesis (GO:0001525)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|cervix(1)|endometrium(3)|large_intestine(4)|lung(18)|skin(1)	29						TCCACCAGCTGCGCGCTCGTG	0.657																																					Esophageal Squamous(136;1368 1743 5685 7935 50360)	ENST00000396352.4																			0				breast(2)|cervix(1)|endometrium(3)|large_intestine(4)|lung(18)|skin(1)	29						c.(604-606)Cag>Tag		homeobox A3							59	59	59					7																	27148262		2203	4300	6503	SO:0001587	stop_gained	3200				angiogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:27148262G>A		CCDS5404.1	7p15.2	2011-06-20	2005-12-22		ENSG00000105997	ENSG00000105997		"Homeoboxes / ANTP class : HOXL subclass"	5104	protein-coding gene	gene with protein product		142954	"homeo box A3"	HOX1E, HOX1		1973146, 1358459	Standard	XM_005249730		Approved		uc011jzl.2	O43365	OTTHUMG00000023209	ENST00000396352.4:c.604C>T	7.37:g.27148262G>A	ENSP00000379640:p.Gln202*					HOXA3_ENST00000317201.2_Nonsense_Mutation_p.Q202*|HOXA-AS2_ENST00000518088.1_RNA	p.Q202*	NM_030661.4	NP_109377.1	O43365	HXA3_HUMAN			3	803	-			202					A4D181	Nonsense_Mutation	SNP	ENST00000396352.4	37	c.604C>T	CCDS5404.1	.	.	.	.	.	.	.	.	.	.	G	38	7.124067	0.98081	.	.	ENSG00000105997	ENST00000396352;ENST00000317201;ENST00000396350	.	.	.	5.03	5.03	0.67393	.	0.054737	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	18.5723	0.91140	0.0:0.0:1.0:0.0	.	.	.	.	X	202;202;44	.	ENSP00000324884:Q202X	Q	-	1	0	HOXA3	27114787	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.629000	0.98417	2.620000	0.88729	0.655000	0.94253	CAG		0.657	HOXA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358708.2			31	57	0	0	0	1	0	31	57					A	27148262	G	A	27148262	4	1	435	1	0	0	0	0	0	1	0	0	7293	1328	46	3	731	3	HOXA3	7	27148262	Nonsense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	378	27148262	131990401	3525	24450											
HOXA4	3201	broad.mit.edu	37	chr7	27169057	27169057	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgctcagacaaacagagcgtGtgggcgatctcgatgcggcg	9	6	15	11	6	2	2	1	0	1	2	3	4	2	2	0	2	3	1	0	2	1	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:27169057G>A	ENST00000360046.5	-	2	815	c.750C>T	c.(748-750)caC>caT	p.H250H	HOXA-AS3_ENST00000518848.1_RNA|HOXA-AS2_ENST00000521159.1_RNA|HOXA3_ENST00000317201.2_5'Flank|HOXA3_ENST00000521401.1_Intron|HOXA-AS2_ENST00000517550.1_RNA|HOXA-AS2_ENST00000521687.1_RNA|RP1-170O19.22_ENST00000467897.2_RNA|HOXA4_ENST00000428284.2_Silent_p.H250H	NM_002141.4	NP_002132.3	Q00056	HXA4_HUMAN	homeobox A4	250					anatomical structure morphogenesis (GO:0009653)|anterior/posterior pattern specification (GO:0009952)|embryonic skeletal system morphogenesis (GO:0048704)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(6)	12						AACAGAGCGTGTGGGCGATCT	0.572																																						ENST00000360046.5																			0				breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(6)	12						c.(748-750)caC>caT		homeobox A4							204	171	182					7																	27169057		2203	4300	6503	SO:0001819	synonymous_variant	3201					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:27169057G>A		CCDS5405.1	7p15.2	2011-06-20	2005-12-22		ENSG00000197576	ENSG00000197576		"Homeoboxes / ANTP class : HOXL subclass"	5105	protein-coding gene	gene with protein product		142953	"homeo box A4"	HOX1D, HOX1		1973146, 1358459	Standard	NM_002141		Approved		uc003sym.4	Q00056	OTTHUMG00000023213	ENST00000360046.5:c.750C>T	7.37:g.27169057G>A						HOXA4_ENST00000428284.2_Silent_p.H250H|HOXA3_ENST00000467897.2_5'UTR|HOXA-AS2_ENST00000521159.1_RNA	p.H250H	NM_002141.4	NP_002132.3	Q00056	HXA4_HUMAN			2	815	-			250					A4D180|O43366	Silent	SNP	ENST00000360046.5	37	c.750C>T	CCDS5405.1	.	.	.	.	.	.	.	.	.	.	G	6.273	0.418561	0.11870	.	.	ENSG00000197576	ENST00000511914	D	0.96136	-3.92	5.29	5.29	0.74685	.	0.000000	0.64402	D	0.000003	D	0.97529	0.9191	.	.	.	0.80722	D	1	.	.	.	.	.	.	D	0.98173	1.0453	7	0.87932	D	0	.	18.9816	0.92757	0.0:0.0:1.0:0.0	.	.	.	.	Y	70	ENSP00000448015:H70Y	ENSP00000448015:H70Y	H	-	1	0	HOXA4	27135582	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.743000	0.62110	2.485000	0.83878	0.555000	0.69702	CAC		0.572	HOXA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059534.4			25	51	0	0	0	1	0	25	51					A	27169057	G	A	27169057	2	1	435	1	0	0	0	0	0	0	0	1	7294	1368	48	3		3	HOXA4	7	27169057	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	20795	27169057	131969606	3526	24451											
HOXA4	3201	broad.mit.edu	37	chr7	27169077	27169077	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgggcgatctcgatgcggcGccgccgggtcaggtatcgat	5	8	17	11	7	2	0	1	0	1	0	4	3	2	0	2	4	1	1	2	4	1	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:27169077G>A	ENST00000360046.5	-	2	795	c.730C>T	c.(730-732)Cgc>Tgc	p.R244C	HOXA-AS3_ENST00000518848.1_RNA|HOXA-AS2_ENST00000521159.1_RNA|HOXA3_ENST00000317201.2_5'Flank|HOXA3_ENST00000521401.1_Intron|HOXA-AS2_ENST00000517550.1_RNA|HOXA-AS2_ENST00000521687.1_RNA|RP1-170O19.22_ENST00000467897.2_RNA|HOXA4_ENST00000428284.2_Missense_Mutation_p.R244C	NM_002141.4	NP_002132.3	Q00056	HXA4_HUMAN	homeobox A4	244					anatomical structure morphogenesis (GO:0009653)|anterior/posterior pattern specification (GO:0009952)|embryonic skeletal system morphogenesis (GO:0048704)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(6)	12						TCGATGCGGCGCCGCCGGGTC	0.582																																						ENST00000360046.5																			0				breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(6)	12						c.(730-732)Cgc>Tgc		homeobox A4							147	131	137					7																	27169077		2203	4300	6503	SO:0001583	missense	3201					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:27169077G>A		CCDS5405.1	7p15.2	2011-06-20	2005-12-22		ENSG00000197576	ENSG00000197576		"Homeoboxes / ANTP class : HOXL subclass"	5105	protein-coding gene	gene with protein product		142953	"homeo box A4"	HOX1D, HOX1		1973146, 1358459	Standard	NM_002141		Approved		uc003sym.4	Q00056	OTTHUMG00000023213	ENST00000360046.5:c.730C>T	7.37:g.27169077G>A	ENSP00000353151:p.Arg244Cys					HOXA4_ENST00000428284.2_Missense_Mutation_p.R244C|HOXA3_ENST00000467897.2_5'UTR|HOXA-AS2_ENST00000521159.1_RNA	p.R244C	NM_002141.4	NP_002132.3	Q00056	HXA4_HUMAN			2	795	-			244					A4D180|O43366	Missense_Mutation	SNP	ENST00000360046.5	37	c.730C>T	CCDS5405.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.9|20.9	4.060132|4.060132	0.76074|0.76074	.|.	.|.	ENSG00000197576|ENSG00000197576	ENST00000511914|ENST00000360046;ENST00000428284	.|D;D	.|0.96200	.|-3.94;-3.94	4.96|4.96	4.96|4.96	0.65561|0.65561	.|Homeobox, eukaryotic (1);Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	.|0.000000	.|0.64402	.|D	.|0.000011	D|D	0.98686|0.98686	0.9559|0.9559	H|H	0.97315|0.97315	3.98|3.98	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.97110	.|1.0	D|D	0.99727|0.99727	1.1011|1.1011	5|10	.|0.87932	.|D	.|0	.|.	18.6494|18.6494	0.91425|0.91425	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|244	.|Q00056	.|HXA4_HUMAN	V|C	63|244	.|ENSP00000353151:R244C;ENSP00000408845:R244C	.|ENSP00000353151:R244C	A|R	-|-	2|1	0|0	HOXA4|HOXA4	27135602|27135602	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.998000|0.998000	0.95712|0.95712	5.174000|5.174000	0.65015|0.65015	2.485000|2.485000	0.83878|0.83878	0.555000|0.555000	0.69702|0.69702	GCG|CGC		0.582	HOXA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059534.4			29	47	0	0	0	1	0	29	47					A	27169077	G	A	27169077	3	1	435	1	0	0	0	0	1	0	0	0	7294	1087	38	1	236	1	HOXA4	7	27169077	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	20	27169077	131969586	3527	24452											
TAX1BP1	8887	broad.mit.edu	37	chr7	27797681	27797681	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tactgctcgtgattattacaCgtttttatggtcccctatgc	7	17	7	10	2	0	1	0	1	0	0	2	1	1	1	2	1	4	2	2	1	5	7			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:27797681C>T	ENST00000396319.2	+	3	282	c.194C>T	c.(193-195)aCg>aTg	p.T65M	TAX1BP1_ENST00000409980.1_Missense_Mutation_p.T65M|TAX1BP1_ENST00000433216.2_5'UTR|TAX1BP1_ENST00000265393.6_Missense_Mutation_p.T65M|TAX1BP1_ENST00000543117.1_Missense_Mutation_p.T65M	NM_006024.6	NP_006015.4	Q86VP1	TAXB1_HUMAN	Tax1 (human T-cell leukemia virus type I) binding protein 1	65					apoptotic process (GO:0006915)|innate immune response (GO:0045087)|negative regulation of apoptotic process (GO:0043066)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of type I interferon production (GO:0032480)	cytosol (GO:0005829)	kinase binding (GO:0019900)			breast(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(8)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31			GBM - Glioblastoma multiforme(3;0.0823)			GATTATTACACGTTTTTATGG	0.378																																						ENST00000396319.2																			0				breast(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(8)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31						c.(193-195)aCg>aTg		Tax1 (human T-cell leukemia virus type I) binding protein 1							239	198	212					7																	27797681		2203	4300	6503	SO:0001583	missense	8887				anti-apoptosis|apoptosis|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production	cytosol	identical protein binding|kinase binding|zinc ion binding	g.chr7:27797681C>T	U33821	CCDS5415.1, CCDS43561.1, CCDS56471.1	7p15	2010-08-05			ENSG00000106052	ENSG00000106052			11575	protein-coding gene	gene with protein product		605326				10435631	Standard	NM_006024		Approved	TXBP151, CALCOCO3	uc003szl.3	Q86VP1	OTTHUMG00000023377	ENST00000396319.2:c.194C>T	7.37:g.27797681C>T	ENSP00000379612:p.Thr65Met					TAX1BP1_ENST00000543117.1_Missense_Mutation_p.T65M|TAX1BP1_ENST00000409980.1_Missense_Mutation_p.T65M|TAX1BP1_ENST00000265393.6_Missense_Mutation_p.T65M|TAX1BP1_ENST00000433216.2_5'UTR	p.T65M	NM_006024.6	NP_006015.4	Q86VP1	TAXB1_HUMAN	GBM - Glioblastoma multiforme(3;0.0823)		3	282	+			65					B4DKU7|E7ENV2|O60398|O95770|Q13311|Q9BQG5|Q9UI88	Missense_Mutation	SNP	ENST00000396319.2	37	c.194C>T	CCDS5415.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.302092	0.81136	.	.	ENSG00000106052	ENST00000418691;ENST00000543117;ENST00000422800;ENST00000265393;ENST00000409980;ENST00000396319	T;T;T;T;T;T	0.17691	2.26;2.26;2.26;2.26;2.26;2.26	5.13	4.25	0.50352	.	0.000000	0.56097	D	0.000038	T	0.43700	0.1259	M	0.81682	2.555	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.48007	-0.9072	10	0.87932	D	0	-12.1481	13.5028	0.61467	0.0:0.9242:0.0:0.0758	.	65;65	Q86VP1;Q86VP1-2	TAXB1_HUMAN;.	M	65	ENSP00000411490:T65M;ENSP00000444811:T65M;ENSP00000395290:T65M;ENSP00000265393:T65M;ENSP00000386515:T65M;ENSP00000379612:T65M	ENSP00000265393:T65M	T	+	2	0	TAX1BP1	27764206	1.000000	0.71417	0.665000	0.29768	0.929000	0.56500	7.404000	0.79996	1.155000	0.42497	0.460000	0.39030	ACG		0.378	TAX1BP1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000214142.1	NM_006024		20	56	0	0	0	1	0	20	56					T	27797681	C	T	27797681	3	4	435	1	0	0	0	0	1	0	0	0	15591	536	19	1	200	1	TAX1BP1	7	27797681	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	628604	27797681	131340982	3528	24453											
TAX1BP1	8887	broad.mit.edu	37	chr7	27827122	27827122	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttagatgggaacaaagaaaGcgtgattactcatttcaaag	16	11	9	5	1	2	3	2	1	0	2	2	4	2	4	0	1	3	0	0	1	6	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:27827122G>T	ENST00000396319.2	+	8	1026	c.938G>T	c.(937-939)aGc>aTc	p.S313I	TAX1BP1_ENST00000409980.1_Missense_Mutation_p.S313I|TAX1BP1_ENST00000433216.2_Missense_Mutation_p.S156I|TAX1BP1_ENST00000265393.6_Missense_Mutation_p.S313I|TAX1BP1_ENST00000543117.1_Missense_Mutation_p.S313I	NM_006024.6	NP_006015.4	Q86VP1	TAXB1_HUMAN	Tax1 (human T-cell leukemia virus type I) binding protein 1	313					apoptotic process (GO:0006915)|innate immune response (GO:0045087)|negative regulation of apoptotic process (GO:0043066)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of type I interferon production (GO:0032480)	cytosol (GO:0005829)	kinase binding (GO:0019900)			breast(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(8)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31			GBM - Glioblastoma multiforme(3;0.0823)			AACAAAGAAAGCGTGATTACT	0.358																																						ENST00000396319.2																			0				breast(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(8)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31						c.(937-939)aGc>aTc		Tax1 (human T-cell leukemia virus type I) binding protein 1							79	84	82					7																	27827122		2203	4300	6503	SO:0001583	missense	8887				anti-apoptosis|apoptosis|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production	cytosol	identical protein binding|kinase binding|zinc ion binding	g.chr7:27827122G>T	U33821	CCDS5415.1, CCDS43561.1, CCDS56471.1	7p15	2010-08-05			ENSG00000106052	ENSG00000106052			11575	protein-coding gene	gene with protein product		605326				10435631	Standard	NM_006024		Approved	TXBP151, CALCOCO3	uc003szl.3	Q86VP1	OTTHUMG00000023377	ENST00000396319.2:c.938G>T	7.37:g.27827122G>T	ENSP00000379612:p.Ser313Ile					TAX1BP1_ENST00000543117.1_Missense_Mutation_p.S313I|TAX1BP1_ENST00000409980.1_Missense_Mutation_p.S313I|TAX1BP1_ENST00000265393.6_Missense_Mutation_p.S313I|TAX1BP1_ENST00000433216.2_Missense_Mutation_p.S156I	p.S313I	NM_006024.6	NP_006015.4	Q86VP1	TAXB1_HUMAN	GBM - Glioblastoma multiforme(3;0.0823)		8	1026	+			313					B4DKU7|E7ENV2|O60398|O95770|Q13311|Q9BQG5|Q9UI88	Missense_Mutation	SNP	ENST00000396319.2	37	c.938G>T	CCDS5415.1	.	.	.	.	.	.	.	.	.	.	G	13.99	2.403048	0.42613	.	.	ENSG00000106052	ENST00000543117;ENST00000265393;ENST00000409980;ENST00000433216;ENST00000396319	T;T;T;T;T	0.31510	2.9;2.9;2.9;1.49;2.9	5.98	-3.19	0.05171	.	0.434355	0.21481	N	0.073836	T	0.15565	0.0375	N	0.14661	0.345	0.28906	N	0.892996	B;B;B	0.24675	0.109;0.04;0.005	B;B;B	0.30943	0.122;0.063;0.038	T	0.18272	-1.0342	10	0.41790	T	0.15	-0.0271	8.5971	0.33723	0.6849:0.1257:0.1895:0.0	.	156;313;313	E7ENV2;Q86VP1;Q86VP1-2	.;TAXB1_HUMAN;.	I	313;313;313;156;313	ENSP00000444811:S313I;ENSP00000265393:S313I;ENSP00000386515:S313I;ENSP00000391907:S156I;ENSP00000379612:S313I	ENSP00000265393:S313I	S	+	2	0	TAX1BP1	27793647	0.984000	0.35163	0.909000	0.35828	0.979000	0.70002	0.882000	0.28186	-0.175000	0.10725	0.650000	0.86243	AGC		0.358	TAX1BP1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000214142.1	NM_006024		29	32	1	0	5.77227e-19	1	6.37883e-19	29	32					T	27827122	G	T	27827122	3	4	435	1	0	0	0	0	1	0	0	0	15591	971	34	5	964	5	TAX1BP1	7	27827122	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	29441	27827122	131311541	3529	24454											
JAZF1	221895	broad.mit.edu	37	chr7	27872571	27872571	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgttctgtgaccattcttagCgtgatactttatgccattca	8	17	7	9	1	3	2	1	2	2	0	3	2	3	2	2	0	3	1	2	0	3	7			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:27872571C>T	ENST00000283928.5	-	5	745	c.580G>A	c.(580-582)Gct>Act	p.A194T	JAZF1_ENST00000466516.1_5'UTR	NM_175061.3	NP_778231.2	Q86VZ6	JAZF1_HUMAN	JAZF zinc finger 1	194					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|transcription corepressor activity (GO:0003714)		JAZF1/SUZ12(133)	endometrium(1)|large_intestine(1)|lung(4)	6						CCATTCTTAGCGTGATACTTT	0.443			T	SUZ12	endometrial stromal tumours																																	ENST00000283928.5				Dom	yes		7	7p15.2-p15.1	221895	T	juxtaposed with another zinc finger gene 1			M	SUZ12		endometrial stromal tumours	JAZF1/SUZ12(133)	0				endometrium(1)|large_intestine(1)|lung(4)	6						c.(580-582)Gct>Act		JAZF zinc finger 1							110	95	100					7																	27872571		2203	4300	6503	SO:0001583	missense	221895				negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	transcriptional repressor complex	nucleic acid binding|transcription corepressor activity|zinc ion binding	g.chr7:27872571C>T	BC047229	CCDS5416.1	7p15.2-p15.1	2010-04-14			ENSG00000153814	ENSG00000153814		"Zinc fingers, C2H2-type"	28917	protein-coding gene	gene with protein product		606246				8401585	Standard	XM_006715656		Approved	TIP27, DKFZp761K2222, ZNF802	uc003szn.3	Q86VZ6	OTTHUMG00000128545	ENST00000283928.5:c.580G>A	7.37:g.27872571C>T	ENSP00000283928:p.Ala194Thr					JAZF1_ENST00000466516.1_5'UTR|TAX1BP1_ENST00000488564.1_Intron	p.A194T	NM_175061.3	NP_778231.2	Q86VZ6	JAZF1_HUMAN			5	745	-			194					A4D195|Q8N3L7	Missense_Mutation	SNP	ENST00000283928.5	37	c.580G>A	CCDS5416.1	.	.	.	.	.	.	.	.	.	.	C	19.73	3.881714	0.72294	.	.	ENSG00000153814	ENST00000283928;ENST00000430432;ENST00000447620	T;T;T	0.42131	0.98;0.98;0.98	5.65	5.65	0.86999	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.045757	0.85682	D	0.000000	T	0.53997	0.1831	N	0.25890	0.77	0.80722	D	1	D	0.76494	0.999	D	0.76575	0.988	T	0.49041	-0.8980	10	0.41790	T	0.15	-12.9664	19.9142	0.97043	0.0:1.0:0.0:0.0	.	194	Q86VZ6	JAZF1_HUMAN	T	194;161;170	ENSP00000283928:A194T;ENSP00000387976:A161T;ENSP00000415096:A170T	ENSP00000283928:A194T	A	-	1	0	JAZF1	27839096	1.000000	0.71417	0.973000	0.42090	0.987000	0.75469	7.320000	0.79064	2.941000	0.99782	0.655000	0.94253	GCT		0.443	JAZF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250382.2	NM_175061		16	31	0	0	0	1	0	16	31					T	27872571	C	T	27872571	3	4	435	1	0	0	0	0	1	0	0	0	7946	768	27	1	155	1	JAZF1	7	27872571	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	45449	27872571	131266092	3530	24455											
WIPF3	644150	broad.mit.edu	37	chr7	29927787	29927787	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gccacagcctggaccccgacGcagcagcctggaggtcaact	9	4	12	16	2	1	0	1	0	0	0	1	3	1	2	5	3	4	2	5	3	1	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:29927787G>A	ENST00000409290.1	+	5	1203	c.1203G>A	c.(1201-1203)acG>acA	p.T401T	WIPF3_ENST00000242140.5_Silent_p.T401T|WIPF3_ENST00000409123.1_Silent_p.T401T	NM_001080529.2	NP_001073998.2	A6NGB9	WIPF3_HUMAN	WAS/WASL interacting protein family, member 3	401					cell differentiation (GO:0030154)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytosol (GO:0005829)				breast(2)|large_intestine(3)|lung(6)|ovary(1)	12						GGACCCCGACGCAGCAGCCTG	0.587																																						ENST00000409290.1																			0				breast(2)|large_intestine(3)|lung(6)|ovary(1)	12						c.(1201-1203)acG>acA		WAS/WASL interacting protein family, member 3							30	34	32					7																	29927787		2005	4189	6194	SO:0001819	synonymous_variant	644150							g.chr7:29927787G>A	AK094250	CCDS56472.1	7p15.1	2006-10-12			ENSG00000122574	ENSG00000122574			22004	protein-coding gene	gene with protein product		612432					Standard	NM_001080529		Approved	CR16, FLJ36931	uc022aaz.1	A6NGB9	OTTHUMG00000152761	ENST00000409290.1:c.1203G>A	7.37:g.29927787G>A						WIPF3_ENST00000409123.1_Silent_p.T401T|WIPF3_ENST00000242140.5_Silent_p.T401T	p.T401T	NM_001080529.2	NP_001073998.2	B8ZZV2	B8ZZV2_HUMAN			5	1203	+			401					B8ZZV2	Silent	SNP	ENST00000409290.1	37	c.1203G>A	CCDS56472.1																																																																																				0.587	WIPF3-002	NOVEL	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000327705.1			6	1	0	0	0	1	0	6	1					A	29927787	G	A	29927787	2	1	435	1	0	0	0	0	0	0	0	1	17366	1074	38	1		1	WIPF3	7	29927787	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	2055216	29927787	129210876	3531	24456											
PLEKHA8	84725	broad.mit.edu	37	chr7	30094928	30094928	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ttcccacagaagcattcttgGcatcatgttatgctgtggtt	8	15	9	9	0	2	1	1	0	1	1	3	1	3	1	1	2	2	5	1	2	2	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:30094928G>A	ENST00000449726.1	+	9	1359	c.1009G>A	c.(1009-1011)Gca>Aca	p.A337T	PLEKHA8_ENST00000396257.2_Missense_Mutation_p.A337T|PLEKHA8_ENST00000396259.1_Missense_Mutation_p.A337T|PLEKHA8_ENST00000258679.7_Missense_Mutation_p.A337T	NM_001197027.1	NP_001183956.1	Q96JA3	PKHA8_HUMAN	pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 8	337	Glycolipid transfer protein homology domain.				ER to Golgi ceramide transport (GO:0035621)|lipid transport (GO:0006869)|protein transport (GO:0015031)	membrane (GO:0016020)|trans-Golgi network (GO:0005802)	ceramide binding (GO:0097001)|glycolipid binding (GO:0051861)|glycolipid transporter activity (GO:0017089)|phosphatidylinositol-4-phosphate binding (GO:0070273)			breast(4)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)	17						AGCATTCTTGGCATCATGTTA	0.393																																						ENST00000449726.1																			0				breast(4)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)	17						c.(1009-1011)Gca>Aca		pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 8							223	185	198					7																	30094928		2203	4300	6503	SO:0001583	missense	84725				protein transport	cytoplasm	glycolipid binding|glycolipid transporter activity	g.chr7:30094928G>A	BC053990	CCDS5424.1, CCDS56473.1, CCDS75574.1	7p21-p11.2	2013-01-10			ENSG00000106086	ENSG00000106086		"Pleckstrin homology (PH) domain containing"	30037	protein-coding gene	gene with protein product		608639				11001876	Standard	NM_001197027		Approved	FAPP2, MGC3358	uc003taq.3	Q96JA3	OTTHUMG00000097751	ENST00000449726.1:c.1009G>A	7.37:g.30094928G>A	ENSP00000397947:p.Ala337Thr					PLEKHA8_ENST00000396257.2_Missense_Mutation_p.A337T|PLEKHA8_ENST00000396259.1_Missense_Mutation_p.A337T|PLEKHA8_ENST00000258679.7_Missense_Mutation_p.A337T	p.A337T	NM_001197027.1	NP_001183956.1	Q96JA3	PKHA8_HUMAN			9	1359	+			337					B4DH00|Q7Z5V8|Q9BU78|Q9H274|Q9H8Z7	Missense_Mutation	SNP	ENST00000449726.1	37	c.1009G>A	CCDS56473.1	.	.	.	.	.	.	.	.	.	.	G	17.59	3.428043	0.62844	.	.	ENSG00000106086	ENST00000258679;ENST00000449726;ENST00000396257;ENST00000396259;ENST00000440706	.	.	.	5.93	5.93	0.95920	Glycolipid transfer protein domain (3);	0.113936	0.64402	D	0.000017	T	0.48187	0.1486	L	0.34521	1.04	0.41623	D	0.988977	B;B;P;B	0.38504	0.145;0.175;0.634;0.101	B;B;B;B	0.32805	0.074;0.122;0.153;0.122	T	0.50074	-0.8870	9	0.46703	T	0.11	-48.4614	18.9133	0.92494	0.0:0.0:1.0:0.0	.	337;337;337;337	Q96JA3-2;Q96JA3;Q96JA3-3;B4DH00	.;PKHA8_HUMAN;.;.	T	337;337;337;337;363	.	ENSP00000258679:A337T	A	+	1	0	PLEKHA8	30061453	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.716000	0.68437	2.814000	0.96858	0.591000	0.81541	GCA		0.393	PLEKHA8-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_032639		26	72	0	0	0	1	0	26	72					A	30094928	G	A	30094928	3	1	435	1	0	0	0	0	1	0	0	0	12062	1203	42	3	1043	3	PLEKHA8	7	30094928	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	167141	30094928	129043735	3532	24457											
NOD1	10392	broad.mit.edu	37	chr7	30469004	30469004	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttaccaaatctctgttatGccagtgttgctctgtaacgc	8	15	7	11	1	3	0	0	0	3	0	4	0	3	0	2	0	4	4	2	0	4	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:30469004G>A	ENST00000222823.4	-	13	3300	c.2775C>T	c.(2773-2775)ggC>ggT	p.G925G		NM_006092.2	NP_006083.1	Q9Y239	NOD1_HUMAN	nucleotide-binding oligomerization domain containing 1	925					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of MAPK activity (GO:0000187)|apoptotic process (GO:0006915)|defense response (GO:0006952)|defense response to bacterium (GO:0042742)|defense response to Gram-positive bacterium (GO:0050830)|detection of bacterium (GO:0016045)|detection of biotic stimulus (GO:0009595)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-8 biosynthetic process (GO:0042228)|intracellular signal transduction (GO:0035556)|JNK cascade (GO:0007254)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of dendritic cell antigen processing and presentation (GO:0002606)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of JNK cascade (GO:0046330)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of tumor necrosis factor production (GO:0032760)|protein oligomerization (GO:0051259)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|CARD domain binding (GO:0050700)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|identical protein binding (GO:0042802)|peptidoglycan binding (GO:0042834)|protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(2)|prostate(1)|skin(2)	39						TCTCTGTTATGCCAGTGTTGC	0.468																																						ENST00000222823.4																			0				breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(2)|prostate(1)|skin(2)	39						c.(2773-2775)ggC>ggT		nucleotide-binding oligomerization domain containing 1							305	298	300					7																	30469004		2203	4300	6503	SO:0001819	synonymous_variant	10392				activation of MAPK activity|detection of bacterium|induction of apoptosis|inflammatory response|innate immune response|interleukin-8 biosynthetic process|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of dendritic cell antigen processing and presentation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protein oligomerization|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	basolateral plasma membrane|cytosol	ATP binding|CARD domain binding|caspase activator activity|peptidoglycan binding|protein homodimerization activity	g.chr7:30469004G>A	AF126484	CCDS5427.1	7p15-p14	2006-12-08	2006-12-08	2006-12-08	ENSG00000106100	ENSG00000106100		"Nucleotide-binding domain and leucine rich repeat containing"	16390	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 1", "NLR family, CARD domain containing 1"	605980	"caspase recruitment domain family, member 4"	CARD4		10224040, 10329646	Standard	NM_006092		Approved	NLRC1, CLR7.1	uc003tav.3	Q9Y239	OTTHUMG00000023923	ENST00000222823.4:c.2775C>T	7.37:g.30469004G>A							p.G925G	NM_006092.2	NP_006083.1	Q9Y239	NOD1_HUMAN			13	3300	-			925					B4DTU3|Q549U4|Q8IWF5	Silent	SNP	ENST00000222823.4	37	c.2775C>T	CCDS5427.1																																																																																				0.468	NOD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250443.2			76	131	0	0	0	1	0	76	131					A	30469004	G	A	30469004	2	1	435	1	0	0	0	0	0	0	0	1	10516	1306	46	3		3	NOD1	7	30469004	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	374076	30469004	128669659	3533	24458											
NOD1	10392	broad.mit.edu	37	chr7	30485797	30485797	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgttcttcacagccagggCgagatacttccctccttcac	7	11	8	15	1	3	1	2	0	1	1	5	2	5	1	3	1	2	2	3	1	1	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:30485797C>T	ENST00000222823.4	-	9	2938	c.2413G>A	c.(2413-2415)Gcc>Acc	p.A805T		NM_006092.2	NP_006083.1	Q9Y239	NOD1_HUMAN	nucleotide-binding oligomerization domain containing 1	805					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of MAPK activity (GO:0000187)|apoptotic process (GO:0006915)|defense response (GO:0006952)|defense response to bacterium (GO:0042742)|defense response to Gram-positive bacterium (GO:0050830)|detection of bacterium (GO:0016045)|detection of biotic stimulus (GO:0009595)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-8 biosynthetic process (GO:0042228)|intracellular signal transduction (GO:0035556)|JNK cascade (GO:0007254)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of dendritic cell antigen processing and presentation (GO:0002606)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of JNK cascade (GO:0046330)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of tumor necrosis factor production (GO:0032760)|protein oligomerization (GO:0051259)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|CARD domain binding (GO:0050700)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|identical protein binding (GO:0042802)|peptidoglycan binding (GO:0042834)|protein homodimerization activity (GO:0042803)	p.A805T(1)		breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(2)|prostate(1)|skin(2)	39						ACAGCCAGGGCGAGATACTTC	0.522																																						ENST00000222823.4																			1	Substitution - Missense(1)	p.A805T(1)	large_intestine(1)	breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(2)|prostate(1)|skin(2)	39						c.(2413-2415)Gcc>Acc		nucleotide-binding oligomerization domain containing 1							364	292	316					7																	30485797		2203	4300	6503	SO:0001583	missense	10392				activation of MAPK activity|detection of bacterium|induction of apoptosis|inflammatory response|innate immune response|interleukin-8 biosynthetic process|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of dendritic cell antigen processing and presentation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protein oligomerization|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	basolateral plasma membrane|cytosol	ATP binding|CARD domain binding|caspase activator activity|peptidoglycan binding|protein homodimerization activity	g.chr7:30485797C>T	AF126484	CCDS5427.1	7p15-p14	2006-12-08	2006-12-08	2006-12-08	ENSG00000106100	ENSG00000106100		"Nucleotide-binding domain and leucine rich repeat containing"	16390	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 1", "NLR family, CARD domain containing 1"	605980	"caspase recruitment domain family, member 4"	CARD4		10224040, 10329646	Standard	NM_006092		Approved	NLRC1, CLR7.1	uc003tav.3	Q9Y239	OTTHUMG00000023923	ENST00000222823.4:c.2413G>A	7.37:g.30485797C>T	ENSP00000222823:p.Ala805Thr						p.A805T	NM_006092.2	NP_006083.1	Q9Y239	NOD1_HUMAN			9	2938	-			805					B4DTU3|Q549U4|Q8IWF5	Missense_Mutation	SNP	ENST00000222823.4	37	c.2413G>A	CCDS5427.1	.	.	.	.	.	.	.	.	.	.	C	34	5.391680	0.95988	.	.	ENSG00000106100	ENST00000222823	T	0.70282	-0.47	5.38	5.38	0.77491	.	0.049361	0.85682	D	0.000000	D	0.85978	0.5823	M	0.84773	2.715	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	D	0.87688	0.2552	10	0.62326	D	0.03	.	18.1152	0.89552	0.0:1.0:0.0:0.0	.	805	Q9Y239	NOD1_HUMAN	T	805	ENSP00000222823:A805T	ENSP00000222823:A805T	A	-	1	0	NOD1	30452322	1.000000	0.71417	0.567000	0.28434	0.995000	0.86356	6.981000	0.76166	2.509000	0.84616	0.655000	0.94253	GCC		0.522	NOD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250443.2			4	87	0	0	0	1	0	4	87					T	30485797	C	T	30485797	3	4	435	1	0	0	0	0	1	0	0	0	10516	768	27	1	472	1	NOD1	7	30485797	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	16793	30485797	128652866	3534	24459											
NOD1	10392	broad.mit.edu	37	chr7	30492455	30492455	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaagatggtctcaccctgcTcattgaggatgccggtggtg	7	11	14	9	1	2	3	2	2	1	1	3	4	2	4	2	4	2	1	2	4	1	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:30492455T>A	ENST00000222823.4	-	6	1103	c.578A>T	c.(577-579)gAg>gTg	p.E193V	NOD1_ENST00000423334.2_Missense_Mutation_p.E193V	NM_006092.2	NP_006083.1	Q9Y239	NOD1_HUMAN	nucleotide-binding oligomerization domain containing 1	193					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of MAPK activity (GO:0000187)|apoptotic process (GO:0006915)|defense response (GO:0006952)|defense response to bacterium (GO:0042742)|defense response to Gram-positive bacterium (GO:0050830)|detection of bacterium (GO:0016045)|detection of biotic stimulus (GO:0009595)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-8 biosynthetic process (GO:0042228)|intracellular signal transduction (GO:0035556)|JNK cascade (GO:0007254)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of dendritic cell antigen processing and presentation (GO:0002606)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of JNK cascade (GO:0046330)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of tumor necrosis factor production (GO:0032760)|protein oligomerization (GO:0051259)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|CARD domain binding (GO:0050700)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|identical protein binding (GO:0042802)|peptidoglycan binding (GO:0042834)|protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(2)|prostate(1)|skin(2)	39						CTCACCCTGCTCATTGAGGAT	0.622																																						ENST00000222823.4																			0				breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(2)|prostate(1)|skin(2)	39						c.(577-579)gAg>gTg		nucleotide-binding oligomerization domain containing 1							103	93	97					7																	30492455		2203	4300	6503	SO:0001583	missense	10392				activation of MAPK activity|detection of bacterium|induction of apoptosis|inflammatory response|innate immune response|interleukin-8 biosynthetic process|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of dendritic cell antigen processing and presentation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protein oligomerization|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	basolateral plasma membrane|cytosol	ATP binding|CARD domain binding|caspase activator activity|peptidoglycan binding|protein homodimerization activity	g.chr7:30492455T>A	AF126484	CCDS5427.1	7p15-p14	2006-12-08	2006-12-08	2006-12-08	ENSG00000106100	ENSG00000106100		"Nucleotide-binding domain and leucine rich repeat containing"	16390	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 1", "NLR family, CARD domain containing 1"	605980	"caspase recruitment domain family, member 4"	CARD4		10224040, 10329646	Standard	NM_006092		Approved	NLRC1, CLR7.1	uc003tav.3	Q9Y239	OTTHUMG00000023923	ENST00000222823.4:c.578A>T	7.37:g.30492455T>A	ENSP00000222823:p.Glu193Val					NOD1_ENST00000423334.2_Missense_Mutation_p.E193V	p.E193V	NM_006092.2	NP_006083.1	Q9Y239	NOD1_HUMAN			6	1103	-			193					B4DTU3|Q549U4|Q8IWF5	Missense_Mutation	SNP	ENST00000222823.4	37	c.578A>T	CCDS5427.1	.	.	.	.	.	.	.	.	.	.	T	7.767	0.706663	0.15239	.	.	ENSG00000106100	ENST00000222823;ENST00000423334	T	0.21191	2.02	5.49	2.96	0.34315	.	0.198415	0.52532	D	0.000065	T	0.16214	0.0390	L	0.45137	1.4	0.45762	D	0.998658	B;B	0.26120	0.142;0.022	B;B	0.20577	0.03;0.007	T	0.05194	-1.0900	10	0.42905	T	0.14	.	8.2174	0.31521	0.1323:0.0:0.1387:0.7289	.	193;193	B4DTU3;Q9Y239	.;NOD1_HUMAN	V	193	ENSP00000222823:E193V	ENSP00000222823:E193V	E	-	2	0	NOD1	30458980	1.000000	0.71417	0.994000	0.49952	0.134000	0.20937	2.246000	0.43142	0.890000	0.36211	-0.316000	0.08728	GAG		0.622	NOD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250443.2			20	29	0	0	0	1	0	20	29					A	30492455	T	A	30492455	3	1	435	1	0	0	0	0	1	0	0	0	10516	1551	54	5	2319	5	NOD1	7	30492455	Missense_Mutation	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	6658	30492455	128646208	3535	24460											
CRHR2	1395	broad.mit.edu	37	chr7	30705216	30705216	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagtggcccaggtagttgaCgacaagggcgatgcggtagt	9	7	17	8	3	0	1	0	1	0	0	0	3	0	1	1	4	1	4	1	4	3	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:30705216C>T	ENST00000471646.1	-	4	772	c.355G>A	c.(355-357)Gtc>Atc	p.V119I	CRHR2_ENST00000348438.4_Missense_Mutation_p.V146I|CRHR2_ENST00000341843.4_Missense_Mutation_p.V105I|CRHR2_ENST00000506074.2_Missense_Mutation_p.V119I	NM_001202482.1|NM_001202483.1|NM_001883.4	NP_001189411.1|NP_001189412.1|NP_001874.2	Q13324	CRFR2_HUMAN	corticotropin releasing hormone receptor 2	119					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cAMP-mediated signaling (GO:0043951)|positive regulation of cAMP-mediated signaling (GO:0043950)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	corticotrophin-releasing factor receptor activity (GO:0015056)			breast(2)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						AGGTAGTTGACGACAAGGGCG	0.632																																						ENST00000471646.1																			0				breast(2)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						c.(355-357)Gtc>Atc		corticotropin releasing hormone receptor 2							114	73	87					7																	30705216		2199	4289	6488	SO:0001583	missense	1395				G-protein signaling, coupled to cAMP nucleotide second messenger	integral to plasma membrane	corticotrophin-releasing factor receptor activity|protein binding	g.chr7:30705216C>T		CCDS5429.1, CCDS56477.1, CCDS56478.1, CCDS75576.1	7p21-p15	2012-08-10			ENSG00000106113	ENSG00000106113		"GPCR / Class B : Corticotropin-releasing factor receptors"	2358	protein-coding gene	gene with protein product		602034				8536644	Standard	NM_001883		Approved	CRF2, CRF-RB, HM-CRF	uc003tbp.3	Q13324	OTTHUMG00000023218	ENST00000471646.1:c.355G>A	7.37:g.30705216C>T	ENSP00000418722:p.Val119Ile					CRHR2_ENST00000348438.4_Missense_Mutation_p.V146I|CRHR2_ENST00000341843.4_Missense_Mutation_p.V105I|CRHR2_ENST00000506074.2_Missense_Mutation_p.V119I	p.V119I	NM_001202482.1|NM_001202483.1|NM_001883.4	NP_001189411.1|NP_001189412.1|NP_001874.2	Q13324	CRFR2_HUMAN			4	772	-			119					B2R967|B3SXS6|B3SXS7|B3SXS8|B3SXT0|F8WA81|O43461|Q4QRJ4|Q99431	Missense_Mutation	SNP	ENST00000471646.1	37	c.355G>A	CCDS5429.1	.	.	.	.	.	.	.	.	.	.	C	0.008	-1.865284	0.00547	.	.	ENSG00000106113	ENST00000471646;ENST00000348438;ENST00000341843;ENST00000506074	T;T;T;T	0.35789	1.29;1.29;1.29;1.29	5.08	-2.22	0.06952	GPCR, family 2-like (1);	0.431955	0.25186	N	0.032499	T	0.05914	0.0154	N	0.00263	-1.745	0.19300	N	0.999975	B;B;B;B;B	0.11235	0.002;0.004;0.002;0.0;0.002	B;B;B;B;B	0.08055	0.003;0.003;0.001;0.001;0.003	T	0.40117	-0.9580	10	0.02654	T	1	.	6.5528	0.22444	0.0:0.3179:0.1356:0.5466	.	118;119;146;105;119	B3SXT0;B3SXS6;Q13324-2;Q13324-3;Q13324	.;.;.;.;CRFR2_HUMAN	I	119;146;105;119	ENSP00000418722:V119I;ENSP00000340943:V146I;ENSP00000344304:V105I;ENSP00000426498:V119I	ENSP00000344304:V105I	V	-	1	0	CRHR2	30671741	0.453000	0.25721	0.015000	0.15790	0.073000	0.16967	0.585000	0.23879	-0.338000	0.08413	-0.773000	0.03387	GTC		0.632	CRHR2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250448.3			3	5	0	0	0	1	0	3	5					T	30705216	C	T	30705216	3	4	435	1	0	0	0	0	1	0	0	0	3872	536	19	1	916	1	CRHR2	7	30705216	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	212761	30705216	128433447	3536	24461											
C7orf16	10842	broad.mit.edu	37	chr7	31736606	31736606	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcagaacatttaattaaaaGatacgatgttcaagagagac	18	11	7	5	1	2	4	2	0	0	4	2	6	2	4	0	0	2	1	0	0	6	6			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:31736606G>T	ENST00000342032.3	+	4	891	c.263G>T	c.(262-264)aGa>aTa	p.R88I	PPP1R17_ENST00000409146.3_Missense_Mutation_p.R37I|PPP1R17_ENST00000498609.1_3'UTR	NM_006658.4	NP_006649.2	O96001	PPR17_HUMAN	protein phosphatase 1, regulatory subunit 17	88					central nervous system development (GO:0007417)|intracellular signal transduction (GO:0035556)|regulation of phosphatase activity (GO:0010921)		protein serine/threonine phosphatase inhibitor activity (GO:0004865)	p.R88I(1)									TTAATTAAAAGATACGATGTT	0.393																																						ENST00000342032.3																			1	Substitution - Missense(1)	p.R88I(1)	large_intestine(1)								c.(262-264)aGa>aTa		protein phosphatase 1, regulatory subunit 17							95	92	93					7																	31736606		2203	4300	6503	SO:0001583	missense	10842				behavior|central nervous system development|intracellular protein kinase cascade|protein phosphorylation	soluble fraction		g.chr7:31736606G>T	AF071789	CCDS5436.1, CCDS47570.1	7p15	2012-04-17	2011-10-11	2011-10-11	ENSG00000106341	ENSG00000106341		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	16973	protein-coding gene	gene with protein product	"G-substrate"	604088	"chromosome 7 open reading frame 16"	C7orf16		10051666, 9920894	Standard	NM_006658		Approved	GSBS	uc003tcl.3	O96001	OTTHUMG00000128629	ENST00000342032.3:c.263G>T	7.37:g.31736606G>T	ENSP00000340125:p.Arg88Ile					PPP1R17_ENST00000409146.3_Missense_Mutation_p.R37I|PPP1R17_ENST00000498609.1_3'UTR	p.R88I	NM_006658.4	NP_006649.2	O96001	GSUB_HUMAN			4	891	+			88					B4DE58|Q9UDQ0	Missense_Mutation	SNP	ENST00000342032.3	37	c.263G>T	CCDS5436.1	.	.	.	.	.	.	.	.	.	.	G	15.73	2.921051	0.52653	.	.	ENSG00000106341	ENST00000342032;ENST00000409146	T;T	0.37584	1.19;1.42	5.63	4.69	0.59074	.	0.215495	0.41294	D	0.000916	T	0.45013	0.1321	L	0.51422	1.61	0.53688	D	0.999974	P;P	0.41131	0.739;0.571	P;B	0.48400	0.576;0.284	T	0.42732	-0.9434	10	0.72032	D	0.01	-9.9099	16.0143	0.80425	0.0:0.1346:0.8654:0.0	.	37;88	B4DE58;O96001	.;PPR17_HUMAN	I	88;37	ENSP00000340125:R88I;ENSP00000386459:R37I	ENSP00000340125:R88I	R	+	2	0	C7orf16	31703131	1.000000	0.71417	0.977000	0.42913	0.492000	0.33523	3.872000	0.56085	2.802000	0.96397	0.563000	0.77884	AGA		0.393	PPP1R17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250498.1	NM_006658		27	40	1	0	2.81731e-10	1	3.0079e-10	27	40					T	31736606	G	T	31736606	3	4	435	1	0	0	0	0	1	0	0	0	2378	942	33	5	273	5	C7orf16	7	31736606	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	1031390	31736606	127402057	3537	24462											
RP9	6100	broad.mit.edu	37	chr7	33136124	33136124	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccttacgtccttttcatgtcGtttattgtctcgtatgatgt	5	20	7	9	3	2	1	1	1	1	0	5	1	3	1	2	0	1	2	2	0	3	7			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:33136124G>A	ENST00000297157.3	-	5	465	c.448C>T	c.(448-450)Cga>Tga	p.R150*		NM_203288.1	NP_976033.1	Q8TA86	RP9_HUMAN	retinitis pigmentosa 9 (autosomal dominant)	150	PIM1-binding. {ECO:0000250}.				cognition (GO:0050890)|RNA splicing (GO:0008380)	nucleus (GO:0005634)|signal recognition particle receptor complex (GO:0005785)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.R150*(2)		large_intestine(3)|lung(3)|urinary_tract(1)	7			GBM - Glioblastoma multiforme(11;0.0403)			TTTTCATGTCGTTTATTGTCT	0.373																																						ENST00000297157.3																			2	Substitution - Nonsense(2)	p.R150*(2)	large_intestine(2)	large_intestine(3)|lung(3)|urinary_tract(1)	7						c.(448-450)Cga>Tga		retinitis pigmentosa 9 (autosomal dominant)							266	223	237					7																	33136124		2203	4300	6503	SO:0001587	stop_gained	6100				RNA splicing	nucleus	nucleic acid binding|protein binding|zinc ion binding	g.chr7:33136124G>A	AX016710	CCDS5440.1	7p14.3	2014-01-28			ENSG00000164610	ENSG00000164610			10288	protein-coding gene	gene with protein product	"Pim-1 kinase associated protein"	607331				8513323	Standard	NM_203288		Approved	PAP-1	uc003tdm.3	Q8TA86	OTTHUMG00000152988	ENST00000297157.3:c.448C>T	7.37:g.33136124G>A	ENSP00000297157:p.Arg150*						p.R150*	NM_203288.1	NP_976033.1	Q8TA86	RP9_HUMAN	GBM - Glioblastoma multiforme(11;0.0403)		5	465	-			150			PIM1-binding (By similarity).			Nonsense_Mutation	SNP	ENST00000297157.3	37	c.448C>T	CCDS5440.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.282275	0.80692	.	.	ENSG00000164610	ENST00000297157;ENST00000448915	.	.	.	3.66	0.932	0.19466	.	0.120359	0.53938	D	0.000060	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-21.8648	9.5843	0.39506	0.0:0.0:0.5931:0.4069	.	.	.	.	X	150;116	.	ENSP00000297157:R150X	R	-	1	2	RP9	33102649	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	1.989000	0.40707	0.535000	0.28714	-0.602000	0.04101	CGA		0.373	RP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328914.1	NM_203288		27	33	0	0	0	1	0	27	33					A	33136124	G	A	33136124	4	1	435	1	0	0	0	0	0	1	0	0	13535	1153	40	1	225	1	RP9	7	33136124	Nonsense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	1399518	33136124	126002539	3538	24463											
BMPER	168667	broad.mit.edu	37	chr7	34118619	34118619	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctggtgaagaacgacgcccGccggacacgctccttctcgt	7	7	12	15	6	1	2	0	1	1	1	3	4	2	3	3	2	1	2	3	2	2	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:34118619G>A	ENST00000297161.2	+	13	1603	c.1229G>A	c.(1228-1230)cGc>cAc	p.R410H	BMPER_ENST00000426693.1_Missense_Mutation_p.R410H	NM_133468.4	NP_597725.1	Q8N8U9	BMPER_HUMAN	BMP binding endothelial regulator	410	VWFD. {ECO:0000255|PROSITE- ProRule:PRU00580}.				blood vessel endothelial cell proliferation involved in sprouting angiogenesis (GO:0002043)|endothelial cell activation (GO:0042118)|inner ear development (GO:0048839)|negative regulation of BMP signaling pathway (GO:0030514)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|regulation of endothelial cell migration (GO:0010594)|regulation of pathway-restricted SMAD protein phosphorylation (GO:0060393)|ureteric bud development (GO:0001657)	extracellular space (GO:0005615)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(24)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						AACGACGCCCGCCGGACACGC	0.622																																						ENST00000297161.2																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(24)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						c.(1228-1230)cGc>cAc		BMP binding endothelial regulator							89	94	93					7																	34118619		2203	4300	6503	SO:0001583	missense	168667				blood vessel endothelial cell proliferation involved in sprouting angiogenesis|endothelial cell activation|negative regulation of BMP signaling pathway|positive regulation of ERK1 and ERK2 cascade|regulation of endothelial cell migration|regulation of pathway-restricted SMAD protein phosphorylation	extracellular space		g.chr7:34118619G>A		CCDS5442.1	7p14.3	2009-02-18			ENSG00000164619	ENSG00000164619			24154	protein-coding gene	gene with protein product	"crossveinless-2"	608699				12897139, 14766204	Standard	NM_133468		Approved	Cv2, CRIM3	uc011kap.2	Q8N8U9	OTTHUMG00000128675	ENST00000297161.2:c.1229G>A	7.37:g.34118619G>A	ENSP00000297161:p.Arg410His					BMPER_ENST00000426693.1_Missense_Mutation_p.R410H	p.R410H	NM_133468.4	NP_597725.1	Q8N8U9	BMPER_HUMAN			13	1603	+			410			VWFD.		A8K1P8|Q8TF36	Missense_Mutation	SNP	ENST00000297161.2	37	c.1229G>A	CCDS5442.1	.	.	.	.	.	.	.	.	.	.	G	36	5.657531	0.96734	.	.	ENSG00000164619	ENST00000297161;ENST00000426693	T;T	0.59772	0.24;0.24	5.87	5.87	0.94306	von Willebrand factor, type D domain (3);	0.000000	0.85682	D	0.000000	T	0.78246	0.4253	M	0.79926	2.475	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	T	0.74999	-0.3472	10	0.33940	T	0.23	.	20.2079	0.98282	0.0:0.0:1.0:0.0	.	410	Q8N8U9	BMPER_HUMAN	H	410	ENSP00000297161:R410H;ENSP00000393950:R410H	ENSP00000297161:R410H	R	+	2	0	BMPER	34085144	1.000000	0.71417	0.933000	0.37362	0.996000	0.88848	9.476000	0.97823	2.781000	0.95711	0.655000	0.94253	CGC		0.622	BMPER-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250570.2	NM_133468		28	46	0	0	0	1	0	28	46					A	34118619	G	A	34118619	3	1	435	1	0	0	0	0	1	0	0	0	1468	1087	38	1	1275	1	BMPER	7	34118619	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	982495	34118619	125020044	3539	24464											
TBX20	57057	broad.mit.edu	37	chr7	35288352	35288352	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aggaccggtggtaggcgtagCggtacctcttgttgtccaca	7	10	14	10	3	1	0	0	0	1	0	2	1	2	1	3	5	2	4	3	5	3	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:35288352C>A	ENST00000408931.3	-	3	1008	c.482G>T	c.(481-483)cGc>cTc	p.R161L		NM_001077653.2|NM_001166220.1	NP_001071121.1|NP_001159692.1	Q9UMR3	TBX20_HUMAN	T-box 20	161					aortic valve morphogenesis (GO:0003180)|atrial septum morphogenesis (GO:0060413)|blood circulation (GO:0008015)|cardiac chamber formation (GO:0003207)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac right ventricle morphogenesis (GO:0003215)|cardiac septum development (GO:0003279)|cell proliferation (GO:0008283)|dorsal/ventral pattern formation (GO:0009953)|embryonic heart tube elongation (GO:0036306)|embryonic heart tube morphogenesis (GO:0003143)|endocardial cushion formation (GO:0003272)|endocardial cushion morphogenesis (GO:0003203)|endoderm formation (GO:0001706)|foramen ovale closure (GO:0035922)|heart looping (GO:0001947)|lateral mesoderm formation (GO:0048370)|muscle contraction (GO:0006936)|negative regulation of SMAD protein complex assembly (GO:0010991)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron migration (GO:0001764)|outflow tract septum morphogenesis (GO:0003148)|patterning of blood vessels (GO:0001569)|pericardium morphogenesis (GO:0003344)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|pulmonary valve formation (GO:0003193)|pulmonary vein morphogenesis (GO:0060577)|tricuspid valve development (GO:0003175)|visceral motor neuron differentiation (GO:0021524)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|lung(9)|prostate(1)|skin(1)|stomach(1)	18						GTAGGCGTAGCGGTACCTCTT	0.572																																						ENST00000408931.3																			0				central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|lung(9)|prostate(1)|skin(1)|stomach(1)	18						c.(481-483)cGc>cTc		T-box 20							94	87	89					7																	35288352		2203	4300	6503	SO:0001583	missense	57057					nucleus	DNA binding	g.chr7:35288352C>A	AJ237589	CCDS43568.1	7p14.3	2014-09-17			ENSG00000164532	ENSG00000164532		"T-boxes"	11598	protein-coding gene	gene with protein product		606061				10936053	Standard	NM_001077653		Approved		uc011kas.2	Q9UMR3	OTTHUMG00000099411	ENST00000408931.3:c.482G>T	7.37:g.35288352C>A	ENSP00000386170:p.Arg161Leu						p.R161L	NM_001077653.2|NM_001166220.1	NP_001071121.1|NP_001159692.1	Q9UMR3	TBX20_HUMAN			3	1008	-			161					A4D1Y6|Q000T4|Q0IJ70|Q0VAS1|Q9Y2N5	Missense_Mutation	SNP	ENST00000408931.3	37	c.482G>T	CCDS43568.1	.	.	.	.	.	.	.	.	.	.	C	36	5.675456	0.96764	.	.	ENSG00000164532	ENST00000408931	D	0.90069	-2.61	5.87	5.87	0.94306	p53-like transcription factor, DNA-binding (1);	0.000000	0.85682	D	0.000000	D	0.96562	0.8878	H	0.95574	3.69	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	D	0.96807	0.9594	10	0.87932	D	0	.	20.5827	0.99408	0.0:1.0:0.0:0.0	.	161	Q9UMR3	TBX20_HUMAN	L	161	ENSP00000386170:R161L	ENSP00000386170:R161L	R	-	2	0	TBX20	35254877	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.776000	0.85560	2.941000	0.99782	0.655000	0.94253	CGC		0.572	TBX20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216870.2	NM_020417		16	31	1	0	4.14922e-12	1	4.48033e-12	16	31					A	35288352	C	A	35288352	3	1	435	1	0	0	0	0	1	0	0	0	15653	768	27	5	886	5	TBX20	7	35288352	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	1169733	35288352	123850311	3540	24465											
SEPT7	989	broad.mit.edu	37	chr7	35913364	35913364	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtgcagtgttgtttatactTcattgctccttcaggacatg	7	16	10	8	0	2	0	2	0	0	0	3	1	3	1	1	2	3	4	1	2	2	7			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:35913364T>C	ENST00000435235.1	+	5	764	c.332T>C	c.(331-333)tTc>tCc	p.F111S	SEPT7_ENST00000494488.2_Missense_Mutation_p.F150S|SEPT7_ENST00000399034.2_Missense_Mutation_p.F165S|SEPT7_ENST00000475109.1_3'UTR|SEPT7_ENST00000469679.2_Missense_Mutation_p.F163S|SEPT7_ENST00000399035.3_Missense_Mutation_p.F163S|SEPT7_ENST00000350320.6_Missense_Mutation_p.F163S			Q16181	SEPT7_HUMAN	septin 7	164	Septin-type G.				cilium morphogenesis (GO:0060271)|cytokinesis (GO:0000910)|mitotic nuclear division (GO:0007067)|protein heterooligomerization (GO:0051291)|regulation of embryonic cell shape (GO:0016476)	actin cytoskeleton (GO:0015629)|axoneme (GO:0005930)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|kinetochore (GO:0000776)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|septin complex (GO:0031105)|stress fiber (GO:0001725)	GTP binding (GO:0005525)|identical protein binding (GO:0042802)|structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)	14						TGTTTATACTTCATTGCTCCT	0.383																																						ENST00000494488.2																			0				central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)	14						c.(448-450)tTc>tCc		septin 7							104	95	98					7																	35913364		1913	4124	6037	SO:0001583	missense	989				cilium morphogenesis|cytokinesis|mitosis|protein heterooligomerization|regulation of embryonic cell shape	cilium axoneme|cleavage furrow|condensed chromosome kinetochore|midbody|nucleus|septin complex|spindle|stress fiber	GTP binding|protein binding|structural molecule activity	g.chr7:35913364T>C	S72008	CCDS75582.1	7p14.2	2013-01-21	2005-01-11	2005-01-12	ENSG00000122545	ENSG00000122545		"Septins"	1717	protein-coding gene	gene with protein product		603151	"CDC10 cell division cycle 10 homolog (S. cerevisiae)"	CDC10		8037772	Standard	NM_001788		Approved	CDC3, SEPT7A	uc011kau.2	Q16181	OTTHUMG00000155063	ENST00000435235.1:c.332T>C	7.37:g.35913364T>C	ENSP00000413507:p.Phe111Ser					SEPT7_ENST00000399034.2_Missense_Mutation_p.F165S|SEPT7_ENST00000350320.6_Missense_Mutation_p.F163S|SEPT7_ENST00000435235.1_Missense_Mutation_p.F111S|SEPT7_ENST00000469679.2_Missense_Mutation_p.F163S|SEPT7_ENST00000399035.3_Missense_Mutation_p.F163S|SEPT7_ENST00000475109.1_3'UTR	p.F150S			Q16181	SEPT7_HUMAN			5	449	+			164					Q52M76|Q6NX50	Missense_Mutation	SNP	ENST00000435235.1	37	c.449T>C		.	.	.	.	.	.	.	.	.	.	T	27.3	4.819155	0.90873	.	.	ENSG00000122545	ENST00000435235;ENST00000399034;ENST00000350320;ENST00000469679;ENST00000399035;ENST00000537785;ENST00000493670;ENST00000494488	T;T;T;T;T;T	0.80123	-1.34;1.36;1.36;1.36;1.36;1.36	5.09	5.09	0.68999	.	0.000000	0.85682	U	0.000000	D	0.93520	0.7932	H	0.98111	4.15	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.95840	0.8865	10	0.87932	D	0	.	15.2116	0.73227	0.0:0.0:0.0:1.0	.	109;163;164	B4DNE4;E7EPK1;Q16181	.;.;SEPT7_HUMAN	S	111;165;163;163;163;109;111;150	ENSP00000413507:F111S;ENSP00000381992:F165S;ENSP00000344868:F163S;ENSP00000444501:F163S;ENSP00000381993:F163S;ENSP00000438395:F150S	ENSP00000344868:F163S	F	+	2	0	SEPT7	35879889	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.037000	0.88933	2.067000	0.61834	0.524000	0.50904	TTC		0.383	SEPT7-001	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000338285.1	NM_001788		33	125	0	0	0	1	0	33	125					C	35913364	T	C	35913364	3	2	435	1	0	0	0	0	1	0	0	0	14069	1783	62	4	507	4	SEPT7	7	35913364	Missense_Mutation	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	625012	35913364	123225299	3541	24466											
ELMO1	9844	broad.mit.edu	37	chr7	37136300	37136300	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cggccaaagggacattcatgCttgtcttctcgactactgtt	8	13	9	11	2	3	0	1	0	2	0	4	2	3	1	1	2	2	2	1	2	2	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:37136300C>T	ENST00000310758.4	-	15	1871	c.1224G>A	c.(1222-1224)aaG>aaA	p.K408K	ELMO1_ENST00000448602.1_Silent_p.K408K|ELMO1_ENST00000442504.1_Silent_p.K408K|ELMO1_ENST00000341056.3_Silent_p.K110K	NM_001206480.1|NM_014800.10	NP_001193409.1|NP_055615.8	Q92556	ELMO1_HUMAN	engulfment and cell motility 1	408	ELMO. {ECO:0000255|PROSITE- ProRule:PRU00664}.				actin cytoskeleton organization (GO:0030036)|apoptotic process (GO:0006915)|cellular component movement (GO:0006928)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|phagocytosis, engulfment (GO:0006911)|Rac protein signal transduction (GO:0016601)|regulation of defense response to virus by virus (GO:0050690)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	SH3 domain binding (GO:0017124)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(28)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	58						GACATTCATGCTTGTCTTCTC	0.413																																						ENST00000310758.4																			0				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(28)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	58						c.(1222-1224)aaG>aaA		engulfment and cell motility 1							184	148	160					7																	37136300		2203	4300	6503	SO:0001819	synonymous_variant	9844				actin cytoskeleton organization|apoptosis|cellular component movement|phagocytosis, engulfment|Rac protein signal transduction|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|plasma membrane	SH3 domain binding	g.chr7:37136300C>T	AF398885	CCDS5449.1, CCDS5450.1	7p14.1	2012-07-10	2006-01-20		ENSG00000155849	ENSG00000155849		"Engulfment and cell motility proteins"	16286	protein-coding gene	gene with protein product		606420	"engulfment and cell motility 1 (ced-12 homolog, C. elegans)"			11595183	Standard	NM_001039459		Approved	KIAA0281, CED12, ELMO-1, CED-12	uc003tfk.2	Q92556	OTTHUMG00000023701	ENST00000310758.4:c.1224G>A	7.37:g.37136300C>T						ELMO1_ENST00000448602.1_Silent_p.K408K|ELMO1_ENST00000341056.3_Silent_p.K110K|ELMO1_ENST00000442504.1_Silent_p.K408K	p.K408K	NM_001206480.1|NM_014800.10	NP_001193409.1|NP_055615.8	Q92556	ELMO1_HUMAN			15	1871	-			408			ELMO.		A4D1X6|Q29R79|Q6ZTJ0|Q96PB0|Q9H0I1	Silent	SNP	ENST00000310758.4	37	c.1224G>A	CCDS5449.1	.	.	.	.	.	.	.	.	.	.	C	9.772	1.173045	0.21704	.	.	ENSG00000155849	ENST00000433246	.	.	.	4.96	3.11	0.35812	.	.	.	.	.	T	0.58652	0.2137	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.52711	-0.8539	4	.	.	.	.	9.1842	0.37160	0.0:0.7721:0.0:0.2279	.	.	.	.	N	188	.	.	S	-	2	0	ELMO1	37102825	1.000000	0.71417	0.998000	0.56505	0.990000	0.78478	0.887000	0.28254	0.586000	0.29626	0.563000	0.77884	AGC		0.413	ELMO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219830.4	NM_130442		33	58	0	0	0	1	0	33	58					T	37136300	C	T	37136300	2	4	435	1	0	0	0	0	0	0	0	1	5065	796	28	3		3	ELMO1	7	37136300	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	1222936	37136300	122002363	3542	24467											
GPR141	353345	broad.mit.edu	37	chr7	37780645	37780645	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gctacgccactctttactatCccaccaggagttctgggctc	7	11	8	15	1	2	0	0	0	2	0	4	1	3	1	3	2	2	3	3	2	3	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:37780645C>T	ENST00000447769.1	+	4	939	c.650C>T	c.(649-651)tCc>tTc	p.S217F	GPR141_ENST00000334425.1_Missense_Mutation_p.S217F|EPDR1_ENST00000476620.1_Intron|GPR141_ENST00000461610.1_Intron			Q7Z602	GP141_HUMAN	G protein-coupled receptor 141	217						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(13)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						TCTTTACTATCCCACCAGGAG	0.413																																						ENST00000447769.1																			0				NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(13)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(649-651)tCc>tTc		G protein-coupled receptor 141							184	177	179					7																	37780645		2203	4300	6503	SO:0001583	missense	353345					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr7:37780645C>T	AY288420	CCDS5451.1	7p14.1	2012-08-21			ENSG00000187037	ENSG00000187037		"GPCR / Class A : Orphans"	19997	protein-coding gene	gene with protein product		609045				12679517, 14623098	Standard	NM_181791		Approved	PGR13	uc003tfm.1	Q7Z602	OTTHUMG00000102105	ENST00000447769.1:c.650C>T	7.37:g.37780645C>T	ENSP00000390410:p.Ser217Phe					GPR141_ENST00000461610.1_Intron|GPR141_ENST00000334425.1_Missense_Mutation_p.S217F|EPDR1_ENST00000476620.1_Intron	p.S217F			Q7Z602	GP141_HUMAN			4	939	+			217					A4D1X7|Q0VAR5|Q86SP3	Missense_Mutation	SNP	ENST00000447769.1	37	c.650C>T	CCDS5451.1	.	.	.	.	.	.	.	.	.	.	C	12.67	2.008932	0.35415	.	.	ENSG00000187037	ENST00000447769;ENST00000334425	T;T	0.38401	1.14;1.14	4.74	3.85	0.44370	GPCR, rhodopsin-like superfamily (1);	0.133847	0.52532	D	0.000079	T	0.29716	0.0742	L	0.54323	1.7	0.80722	D	1	P	0.36354	0.549	B	0.36845	0.234	T	0.17623	-1.0363	10	0.62326	D	0.03	-18.5075	3.8371	0.08899	0.172:0.5742:0.1659:0.0878	.	217	Q7Z602	GP141_HUMAN	F	217	ENSP00000390410:S217F;ENSP00000334540:S217F	ENSP00000334540:S217F	S	+	2	0	GPR141	37747170	1.000000	0.71417	0.957000	0.39632	0.904000	0.53231	2.466000	0.45084	1.351000	0.45789	0.655000	0.94253	TCC		0.413	GPR141-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219943.2	NM_181791		45	88	0	0	0	1	0	45	88					T	37780645	C	T	37780645	3	4	435	1	0	0	0	0	1	0	0	0	6649	855	30	3	652	3	GPR141	7	37780645	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	644345	37780645	121358018	3543	24468											
EPDR1	54749	broad.mit.edu	37	chr7	37988562	37988562	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cctcttgacattcctcaaaaCtccacctttgaagaccagta	12	11	4	14	0	2	3	1	2	1	1	4	3	4	3	5	0	1	1	5	0	4	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:37988562C>T	ENST00000199448.4	+	2	769	c.390C>T	c.(388-390)aaC>aaT	p.N130N	EPDR1_ENST00000476620.1_Silent_p.N28N|EPDR1_ENST00000423717.1_Intron|EPDR1_ENST00000559325.1_Silent_p.N250N|EPDR1_ENST00000425345.1_Silent_p.N69N	NM_017549.4	NP_060019.2	Q9UM22	EPDR1_HUMAN	ependymin related 1	130					cell-matrix adhesion (GO:0007160)	extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	calcium ion binding (GO:0005509)			breast(1)|endometrium(1)|large_intestine(2)|lung(9)|ovary(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	22						TTCCTCAAAACTCCACCTTTG	0.512																																						ENST00000199448.4																			0				breast(1)|endometrium(1)|large_intestine(2)|lung(9)|ovary(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	22						c.(388-390)aaC>aaT		ependymin related 1							122	112	116					7																	37988562		2203	4300	6503	SO:0001819	synonymous_variant	54749				cell-matrix adhesion	extracellular region	calcium ion binding	g.chr7:37988562C>T	BC018299	CCDS5454.1, CCDS5454.2, CCDS59051.1, CCDS59052.1	7p14.1	2013-07-31	2013-07-31		ENSG00000086289	ENSG00000086289			17572	protein-coding gene	gene with protein product			"ependymin related protein 1 (zebrafish)"			11749721, 11248421	Standard	NM_001242946		Approved	MERP-1, MERP1, UCC1, EPDR	uc003tfp.4	Q9UM22	OTTHUMG00000102187	ENST00000199448.4:c.390C>T	7.37:g.37988562C>T						EPDR1_ENST00000559325.1_Silent_p.N250N|EPDR1_ENST00000423717.1_Intron|EPDR1_ENST00000425345.1_Silent_p.N69N|EPDR1_ENST00000476620.1_Silent_p.N28N	p.N130N	NM_017549.4	NP_060019.2	Q9UM22	EPDR1_HUMAN			2	769	+			130					A8K4C0|C9JYS3|Q06BL0|Q99M77	Silent	SNP	ENST00000199448.4	37	c.390C>T	CCDS5454.2																																																																																				0.512	EPDR1-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000220037.3	NM_017549		18	39	0	0	0	1	0	18	39					T	37988562	C	T	37988562	2	4	435	1	0	0	0	0	0	0	0	1	5163	564	20	3		3	EPDR1	7	37988562	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	207917	37988562	121150101	3544	24469											
VPS41	27072	broad.mit.edu	37	chr7	38791805	38791805	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgggcaatgggtactgtctcGgagaaagggaagtaagtttg	11	10	16	4	1	1	1	0	0	1	1	2	3	1	2	0	4	1	4	0	4	5	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:38791805G>A	ENST00000310301.4	-	22	1951	c.1897C>T	c.(1897-1899)Cga>Tga	p.R633*	VPS41_ENST00000395969.2_Nonsense_Mutation_p.R608*	NM_014396.3	NP_055211.2	P49754	VPS41_HUMAN	vacuolar protein sorting 41 homolog (S. cerevisiae)	633					Golgi vesicle transport (GO:0048193)|intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	cytosol (GO:0005829)|early endosome (GO:0005769)|Golgi-associated vesicle (GO:0005798)|HOPS complex (GO:0030897)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)	zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(5)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	44						GTACTGTCTCGGAGAAAGGGA	0.433																																						ENST00000310301.4																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(5)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	44						c.(1897-1899)Cga>Tga		vacuolar protein sorting 41 homolog (S. cerevisiae)							236	217	223					7																	38791805		2203	4300	6503	SO:0001587	stop_gained	27072				Golgi vesicle transport|intracellular protein transport|vesicle-mediated transport	cytosol|Golgi-associated vesicle|HOPS complex|membrane fraction	zinc ion binding	g.chr7:38791805G>A	U87309	CCDS5457.1, CCDS5458.2	7p14.1-p13	2009-05-08	2006-12-19		ENSG00000006715	ENSG00000006715			12713	protein-coding gene	gene with protein product		605485	"vacuolar protein sorting 41 (yeast homolog)", "vacuolar protein sorting 41 (yeast)"			9159129	Standard	NM_080631		Approved	HVSP41	uc003tgy.3	P49754	OTTHUMG00000023629	ENST00000310301.4:c.1897C>T	7.37:g.38791805G>A	ENSP00000309457:p.Arg633*					VPS41_ENST00000395969.2_Nonsense_Mutation_p.R608*	p.R633*	NM_014396.3	NP_055211.2	P49754	VPS41_HUMAN			22	1951	-			633					E9PF36|Q86TP8|Q99851|Q99852	Nonsense_Mutation	SNP	ENST00000310301.4	37	c.1897C>T	CCDS5457.1	.	.	.	.	.	.	.	.	.	.	G	40	7.923642	0.98563	.	.	ENSG00000006715	ENST00000310301;ENST00000395969	.	.	.	5.86	5.86	0.93980	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.0746	13.1349	0.59403	0.0:0.0:0.7361:0.2639	.	.	.	.	X	633;608	.	ENSP00000309457:R633X	R	-	1	2	VPS41	38758330	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.656000	0.61483	2.776000	0.95493	0.650000	0.86243	CGA		0.433	VPS41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226986.3			47	60	0	0	0	1	0	47	60					A	38791805	G	A	38791805	4	1	435	1	0	0	0	0	0	1	0	0	17207	1124	39	2	699	2	VPS41	7	38791805	Nonsense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	803243	38791805	120346858	3545	24470											
VPS41	27072	broad.mit.edu	37	chr7	38805233	38805233	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttcatattcccagagtgctgCatttttcccaagaattttct	9	17	5	10	0	2	2	1	0	1	2	4	2	4	2	2	0	2	2	2	0	3	7			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:38805233C>T	ENST00000310301.4	-	16	1330	c.1276G>A	c.(1276-1278)Gca>Aca	p.A426T	VPS41_ENST00000395969.2_Missense_Mutation_p.A401T	NM_014396.3	NP_055211.2	P49754	VPS41_HUMAN	vacuolar protein sorting 41 homolog (S. cerevisiae)	426					Golgi vesicle transport (GO:0048193)|intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	cytosol (GO:0005829)|early endosome (GO:0005769)|Golgi-associated vesicle (GO:0005798)|HOPS complex (GO:0030897)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)	zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(5)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	44						CAGAGTGCTGCATTTTTCCCA	0.318																																						ENST00000310301.4																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(5)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	44						c.(1276-1278)Gca>Aca		vacuolar protein sorting 41 homolog (S. cerevisiae)							64	68	67					7																	38805233		2203	4297	6500	SO:0001583	missense	27072				Golgi vesicle transport|intracellular protein transport|vesicle-mediated transport	cytosol|Golgi-associated vesicle|HOPS complex|membrane fraction	zinc ion binding	g.chr7:38805233C>T	U87309	CCDS5457.1, CCDS5458.2	7p14.1-p13	2009-05-08	2006-12-19		ENSG00000006715	ENSG00000006715			12713	protein-coding gene	gene with protein product		605485	"vacuolar protein sorting 41 (yeast homolog)", "vacuolar protein sorting 41 (yeast)"			9159129	Standard	NM_080631		Approved	HVSP41	uc003tgy.3	P49754	OTTHUMG00000023629	ENST00000310301.4:c.1276G>A	7.37:g.38805233C>T	ENSP00000309457:p.Ala426Thr					VPS41_ENST00000395969.2_Missense_Mutation_p.A401T	p.A426T	NM_014396.3	NP_055211.2	P49754	VPS41_HUMAN			16	1330	-			426					E9PF36|Q86TP8|Q99851|Q99852	Missense_Mutation	SNP	ENST00000310301.4	37	c.1276G>A	CCDS5457.1	.	.	.	.	.	.	.	.	.	.	C	12.61	1.990530	0.35131	.	.	ENSG00000006715	ENST00000310301;ENST00000395969	T;T	0.18960	2.18;2.19	5.47	1.69	0.24217	.	0.202993	0.51477	N	0.000089	T	0.11024	0.0269	N	0.24115	0.695	0.30607	N	0.759857	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.26292	-1.0107	10	0.16420	T	0.52	-5.165	7.0794	0.25223	0.0:0.448:0.0:0.552	.	426;401;426	B2RB94;E9PF36;P49754	.;.;VPS41_HUMAN	T	426;401	ENSP00000309457:A426T;ENSP00000379297:A401T	ENSP00000309457:A426T	A	-	1	0	VPS41	38771758	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	2.501000	0.45389	0.296000	0.22592	0.460000	0.39030	GCA		0.318	VPS41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226986.3			6	36	0	0	0	1	0	6	36					T	38805233	C	T	38805233	3	4	435	1	0	0	0	0	1	0	0	0	17207	710	25	3	1344	3	VPS41	7	38805233	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	13428	38805233	120333430	3546	24471											
C7orf36	57002	broad.mit.edu	37	chr7	39612284	39612284	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggcctatcagtagatgtattAcaacacctcaaacaactata	16	10	5	10	0	2	1	2	0	0	1	2	1	2	1	2	1	4	2	2	1	9	6			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:39612284A>G	ENST00000223273.2	+	3	703	c.660A>G	c.(658-660)ttA>ttG	p.L220L	YAE1D1_ENST00000432096.2_Intron	NM_020192.3	NP_064577.1	Q9NRH1	YAED1_HUMAN	Yae1 domain containing 1	220																	TAGATGTATTACAACACCTCA	0.383																																						ENST00000223273.2																			0											c.(658-660)ttA>ttG		Yae1 domain containing 1							67	67	67					7																	39612284		2203	4300	6503	SO:0001819	synonymous_variant	57002							g.chr7:39612284A>G	AF226046	CCDS5459.1, CCDS64630.1	7p14.1	2011-11-24	2011-11-24	2011-11-24	ENSG00000241127	ENSG00000241127			24857	protein-coding gene	gene with protein product			"chromosome 7 open reading frame 36"	C7orf36		12477932	Standard	NM_020192		Approved	GK003	uc003thc.4	Q9NRH1	OTTHUMG00000128689	ENST00000223273.2:c.660A>G	7.37:g.39612284A>G						YAE1D1_ENST00000432096.2_Intron	p.L220L	NM_020192.3	NP_064577.1	Q9NRH1	CG036_HUMAN			3	703	+			220					A4D1W4|B4DE83|Q6IAF7|Q8WVZ5	Silent	SNP	ENST00000223273.2	37	c.660A>G	CCDS5459.1																																																																																				0.383	YAE1D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250586.1	NM_020192		27	31	0	0	0	1	0	27	31					G	39612284	A	G	39612284	2	3	435	1	0	0	0	0	0	0	0	1	2390	388	14	4		4	C7orf36	7	39612284	Silent	SNP	A	TCGA-XK-AAIW-01A-11D-A41K-08	807051	39612284	119526379	3547	24472											
CDK13	8621	broad.mit.edu	37	chr7	40133805	40133805	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagaccggcctcgaattctGcctcctgaccaacgacctcc	8	7	7	19	3	1	2	0	1	1	1	4	4	3	2	8	1	2	0	8	1	2	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:40133805G>A	ENST00000181839.4	+	14	4370	c.3765G>A	c.(3763-3765)ctG>ctA	p.L1255L	CDK13_ENST00000340829.5_Silent_p.L1195L	NM_003718.4|NM_031267.3	NP_003709.3|NP_112557.2	Q14004	CDK13_HUMAN	cyclin-dependent kinase 13	1255					alternative mRNA splicing, via spliceosome (GO:0000380)|hemopoiesis (GO:0030097)|multicellular organismal development (GO:0007275)|phosphorylation of RNA polymerase II C-terminal domain (GO:0070816)|positive regulation of cell proliferation (GO:0008284)|regulation of mitosis (GO:0007088)|viral process (GO:0016032)	cyclin K-CDK13 complex (GO:0002945)|extracellular space (GO:0005615)|nuclear cyclin-dependent protein kinase holoenzyme complex (GO:0019908)|nuclear speck (GO:0016607)	ATP binding (GO:0005524)|cyclin binding (GO:0030332)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(2)|prostate(2)|skin(5)|stomach(2)|urinary_tract(1)	49						CTCGAATTCTGCCTCCTGACC	0.502																																						ENST00000181839.4																			0				cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(2)|prostate(2)|skin(5)|stomach(2)|urinary_tract(1)	49						c.(3763-3765)ctG>ctA		cyclin-dependent kinase 13							139	125	130					7																	40133805		2203	4300	6503	SO:0001819	synonymous_variant	8621				alternative nuclear mRNA splicing, via spliceosome|hemopoiesis|interspecies interaction between organisms|phosphorylation of RNA polymerase II C-terminal domain|positive regulation of cell proliferation|regulation of mitosis	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity	g.chr7:40133805G>A	M80629	CCDS5461.1, CCDS5462.1	7p14.1	2011-11-08	2009-12-16	2009-12-16	ENSG00000065883	ENSG00000065883		"Cyclin-dependent kinases"	1733	protein-coding gene	gene with protein product	"cholinesterase-related cell division controller"	603309	"cell division cycle 2-like 5 (cholinesterase-related cell division controller)"	CDC2L5		1731328, 19884882	Standard	NM_003718		Approved	CHED, CDC2L, KIAA1791	uc003thh.4	Q14004	OTTHUMG00000023726	ENST00000181839.4:c.3765G>A	7.37:g.40133805G>A						CDK13_ENST00000340829.5_Silent_p.L1195L	p.L1255L	NM_003718.4|NM_031267.3	NP_003709.3|NP_112557.2	Q14004	CDK13_HUMAN			14	4370	+			1255					Q53G78|Q6DKQ9|Q75MH4|Q75MH5|Q96JN4|Q9H4A0|Q9H4A1|Q9UDR4	Silent	SNP	ENST00000181839.4	37	c.3765G>A	CCDS5461.1																																																																																				0.502	CDK13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250726.2	NM_003718		19	39	0	0	0	1	0	19	39					A	40133805	G	A	40133805	2	1	435	1	0	0	0	0	0	0	0	1	3129	1306	46	3		3	CDK13	7	40133805	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	521521	40133805	119004858	3548	24473											
GLI3	2737	broad.mit.edu	37	chr7	42005853	42005853	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gggcaggggcgtcggcggcgGccctcctgtggcagccgcgt	2	5	20	14	6	0	0	0	0	0	0	2	0	1	0	3	7	1	2	3	7	0	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:42005853G>A	ENST00000395925.3	-	15	2902	c.2818C>T	c.(2818-2820)Ccg>Tcg	p.P940S	GLI3_ENST00000479210.1_5'UTR	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN	GLI family zinc finger 3	940					anterior semicircular canal development (GO:0060873)|anterior/posterior pattern specification (GO:0009952)|artery development (GO:0060840)|axon guidance (GO:0007411)|branching involved in ureteric bud morphogenesis (GO:0001658)|camera-type eye morphogenesis (GO:0048593)|cell differentiation involved in kidney development (GO:0061005)|cerebral cortex radial glia guided migration (GO:0021801)|developmental growth (GO:0048589)|embryonic digestive tract development (GO:0048566)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic digit morphogenesis (GO:0042733)|embryonic skeletal system morphogenesis (GO:0048704)|forebrain dorsal/ventral pattern formation (GO:0021798)|forebrain radial glial cell differentiation (GO:0021861)|frontal suture morphogenesis (GO:0060364)|heart development (GO:0007507)|hindgut morphogenesis (GO:0007442)|hippocampus development (GO:0021766)|in utero embryonic development (GO:0001701)|lambdoid suture morphogenesis (GO:0060366)|lateral ganglionic eminence cell proliferation (GO:0022018)|lateral semicircular canal development (GO:0060875)|limb morphogenesis (GO:0035108)|lung development (GO:0030324)|mammary gland specification (GO:0060594)|melanocyte differentiation (GO:0030318)|metanephros development (GO:0001656)|negative regulation of alpha-beta T cell differentiation (GO:0046639)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative thymic T cell selection (GO:0045060)|nose morphogenesis (GO:0043585)|odontogenesis of dentin-containing tooth (GO:0042475)|oligodendrocyte differentiation (GO:0048709)|optic nerve morphogenesis (GO:0021631)|palate development (GO:0060021)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein processing (GO:0016485)|proximal/distal pattern formation (GO:0009954)|response to estrogen (GO:0043627)|sagittal suture morphogenesis (GO:0060367)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)|smoothened signaling pathway involved in spinal cord motor neuron cell fate specification (GO:0021776)|smoothened signaling pathway involved in ventral spinal cord interneuron specification (GO:0021775)|T cell differentiation in thymus (GO:0033077)|thymocyte apoptotic process (GO:0070242)|tongue development (GO:0043586)|transcription, DNA-templated (GO:0006351)|wound healing (GO:0042060)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|primary cilium (GO:0072372)|transcriptional repressor complex (GO:0017053)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|histone acetyltransferase binding (GO:0035035)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.P940T(1)		NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						GTCGGCGGCGGCCCTCCTGTG	0.716									Pallister-Hall syndrome;Greig Cephalopolysyndactyly																													ENST00000395925.3																			1	Substitution - Missense(1)	p.P940T(1)	lung(1)	NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						c.(2818-2820)Ccg>Tcg		GLI family zinc finger 3							11	16	14					7																	42005853		2124	4187	6311	SO:0001583	missense	2737	Pallister-Hall syndrome;Greig Cephalopolysyndactyly	Familial Cancer Database	;	negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis	cilium|cytosol|nucleolus	beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr7:42005853G>A		CCDS5465.1	7p13	2013-01-25	2009-03-05		ENSG00000106571	ENSG00000106571		"Zinc fingers, C2H2-type"	4319	protein-coding gene	gene with protein product	"zinc finger protein GLI3", "oncogene GLI3", "DNA-binding protein"	165240	"Greig cephalopolysyndactyly syndrome", "GLI-Kruppel family member GLI3", "glioma-associated oncogene family zinc finger 3"	GCPS, PHS		2118997	Standard	NM_000168		Approved	PAP-A, PAPA, PAPA1, PAPB, ACLS, PPDIV	uc011kbh.2	P10071	OTTHUMG00000023630	ENST00000395925.3:c.2818C>T	7.37:g.42005853G>A	ENSP00000379258:p.Pro940Ser					GLI3_ENST00000479210.1_5'UTR	p.P940S	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN			15	2902	-			940					A4D1W1|O75219|Q17RW4|Q75MT0|Q75MU9|Q9UDT5|Q9UJ39	Missense_Mutation	SNP	ENST00000395925.3	37	c.2818C>T	CCDS5465.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.123098	0.77436	.	.	ENSG00000106571	ENST00000395925	D	0.95238	-3.65	4.85	4.85	0.62838	.	0.000000	0.85682	D	0.000000	D	0.97272	0.9108	M	0.84326	2.69	0.80722	D	1	D	0.71674	0.998	D	0.70935	0.971	D	0.98050	1.0387	10	0.72032	D	0.01	.	17.9834	0.89148	0.0:0.0:1.0:0.0	.	940	P10071	GLI3_HUMAN	S	940	ENSP00000379258:P940S	ENSP00000379258:P940S	P	-	1	0	GLI3	41972378	1.000000	0.71417	0.062000	0.19696	0.746000	0.42486	7.669000	0.83911	2.214000	0.71695	0.462000	0.41574	CCG		0.716	GLI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250806.3	NM_000168		10	25	0	0	0	1	0	10	25					A	42005853	G	A	42005853	3	1	435	1	0	0	0	0	1	0	0	0	6439	1203	42	3	1928	3	GLI3	7	42005853	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	1872048	42005853	117132810	3549	24474											
HECW1	23072	broad.mit.edu	37	chr7	43483842	43483842	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggagatttccctgagtacCgagcctgagtcagcccaaat	11	8	11	11	1	1	3	1	2	0	1	2	6	2	3	4	1	3	1	4	1	2	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:43483842C>T	ENST00000395891.2	+	11	1676	c.1071C>T	c.(1069-1071)acC>acT	p.T357T	HECW1_ENST00000453890.1_Silent_p.T357T	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1	357					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						CCCTGAGTACCGAGCCTGAGT	0.512																																						ENST00000395891.1																			0				NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						c.(1069-1071)acC>acT		HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1							61	67	65					7																	43483842		2096	4238	6334	SO:0001819	synonymous_variant	23072				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity	g.chr7:43483842C>T	AB048365	CCDS5469.2, CCDS69286.1	7p13	2004-12-13			ENSG00000002746	ENSG00000002746			22195	protein-coding gene	gene with protein product		610384				12690205, 14684739	Standard	XM_005249665		Approved	KIAA0322, NEDL1	uc003tid.1	Q76N89	OTTHUMG00000128917	ENST00000395891.2:c.1071C>T	7.37:g.43483842C>T						HECW1_ENST00000453890.1_Silent_p.T357T	p.T357T	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN			11	1676	+			357					A7E2X0|A8MYS3|B4DH42|O15036|Q9HCC7	Silent	SNP	ENST00000395891.2	37	c.1071C>T	CCDS5469.2																																																																																				0.512	HECW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250893.2	NM_015052		21	23	0	0	0	1	0	21	23					T	43483842	C	T	43483842	2	4	435	1	0	0	0	0	0	0	0	1	7042	639	23	2		2	HECW1	7	43483842	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	1477989	43483842	115654821	3550	24475											
HECW1	23072	broad.mit.edu	37	chr7	43484781	43484781	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caaggcggggaccacagttgCgagggctgtgacgcgtcctg	7	6	17	11	4	0	1	0	1	0	0	1	3	1	2	2	4	1	2	2	4	1	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:43484781C>T	ENST00000395891.2	+	11	2615	c.2010C>T	c.(2008-2010)tgC>tgT	p.C670C	HECW1_ENST00000453890.1_Silent_p.C670C	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1	670	Cys-rich.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						ACCACAGTTGCGAGGGCTGTG	0.682																																						ENST00000395891.1																			0				NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						c.(2008-2010)tgC>tgT		HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1							24	29	27					7																	43484781		2143	4226	6369	SO:0001819	synonymous_variant	23072				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity	g.chr7:43484781C>T	AB048365	CCDS5469.2, CCDS69286.1	7p13	2004-12-13			ENSG00000002746	ENSG00000002746			22195	protein-coding gene	gene with protein product		610384				12690205, 14684739	Standard	XM_005249665		Approved	KIAA0322, NEDL1	uc003tid.1	Q76N89	OTTHUMG00000128917	ENST00000395891.2:c.2010C>T	7.37:g.43484781C>T						HECW1_ENST00000453890.1_Silent_p.C670C	p.C670C	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN			11	2615	+			670			Cys-rich.		A7E2X0|A8MYS3|B4DH42|O15036|Q9HCC7	Silent	SNP	ENST00000395891.2	37	c.2010C>T	CCDS5469.2																																																																																				0.682	HECW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250893.2	NM_015052		7	10	0	0	0	1	0	7	10					T	43484781	C	T	43484781	2	4	435	1	0	0	0	0	0	0	0	1	7042	776	27	1		1	HECW1	7	43484781	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	939	43484781	115653882	3551	24476											
HECW1	23072	broad.mit.edu	37	chr7	43540349	43540349	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatcacgggcttgagaagttGtcctgtgatgcggatctggt	8	12	14	7	2	2	2	1	2	1	1	3	4	3	3	1	3	1	2	1	3	2	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:43540349G>A	ENST00000395891.2	+	20	4094	c.3489G>A	c.(3487-3489)ttG>ttA	p.L1163L	HECW1_ENST00000453890.1_Silent_p.L1129L	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1	1163					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						TTGAGAAGTTGTCCTGTGATG	0.488																																						ENST00000395891.1																			0				NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						c.(3487-3489)ttG>ttA		HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1							209	201	203					7																	43540349		1919	4138	6057	SO:0001819	synonymous_variant	23072				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity	g.chr7:43540349G>A	AB048365	CCDS5469.2, CCDS69286.1	7p13	2004-12-13			ENSG00000002746	ENSG00000002746			22195	protein-coding gene	gene with protein product		610384				12690205, 14684739	Standard	XM_005249665		Approved	KIAA0322, NEDL1	uc003tid.1	Q76N89	OTTHUMG00000128917	ENST00000395891.2:c.3489G>A	7.37:g.43540349G>A						HECW1_ENST00000453890.1_Silent_p.L1129L	p.L1163L	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN			20	4094	+			1163					A7E2X0|A8MYS3|B4DH42|O15036|Q9HCC7	Silent	SNP	ENST00000395891.2	37	c.3489G>A	CCDS5469.2																																																																																				0.488	HECW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250893.2	NM_015052		27	48	0	0	0	1	0	27	48					A	43540349	G	A	43540349	2	1	435	1	0	0	0	0	0	0	0	1	7042	1368	48	3		3	HECW1	7	43540349	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	55568	43540349	115598314	3552	24477											
URGCP	55665	broad.mit.edu	37	chr7	43918563	43918563	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctcagaaaaggaataaatgtCggcagcaaggtcatcagctg	15	7	11	8	1	3	1	3	0	0	1	4	2	3	2	0	3	2	3	0	3	6	1	rs200962522		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:43918563C>T	ENST00000453200.1	-	6	992	c.499G>A	c.(499-501)Gac>Aac	p.D167N	URGCP_ENST00000443736.1_Missense_Mutation_p.D124N|URGCP_ENST00000497914.1_5'UTR|URGCP_ENST00000336086.6_Missense_Mutation_p.D124N|URGCP_ENST00000447717.3_Missense_Mutation_p.D124N|URGCP_ENST00000223341.7_Missense_Mutation_p.D124N|URGCP_ENST00000402306.3_Missense_Mutation_p.D158N|URGCP-MRPS24_ENST00000603700.1_Intron			Q8TCY9	URGCP_HUMAN	upregulator of cell proliferation	167					cell cycle (GO:0007049)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	GTP binding (GO:0005525)			breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|liver(1)|lung(13)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						GAATAAATGTCGGCAGCAAGG	0.557													C|||	1	0.000199681	0	0	5008	,	,		19245	0.001		0	False		,,,				2504	0					ENST00000336086.6																			0				breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|liver(1)|lung(13)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						c.(370-372)Gac>Aac		upregulator of cell proliferation							83	91	88					7																	43918563		2055	4192	6247	SO:0001583	missense	55665				cell cycle	centrosome|nucleus	GTP binding	g.chr7:43918563C>T		CCDS43572.1, CCDS47577.1, CCDS47578.1	7p13	2010-02-17			ENSG00000106608	ENSG00000106608			30890	protein-coding gene	gene with protein product	"up-regulated gene 4"	610337				10819331, 12082552	Standard	NM_017920		Approved	URG4, KIAA1507, FLJ20654, DKFZp666G166, DKFZp686O0457	uc003tiw.3	Q8TCY9	OTTHUMG00000155245	ENST00000453200.1:c.499G>A	7.37:g.43918563C>T	ENSP00000396918:p.Asp167Asn					URGCP_ENST00000447717.3_Missense_Mutation_p.D124N|URGCP_ENST00000443736.1_Missense_Mutation_p.D124N|URGCP_ENST00000453200.1_Missense_Mutation_p.D167N|URGCP_ENST00000402306.3_Missense_Mutation_p.D158N|URGCP_ENST00000497914.1_5'UTR|RP5-1165K10.1_ENST00000603700.1_Intron|URGCP_ENST00000223341.7_Missense_Mutation_p.D124N	p.D124N			Q8TCY9	URGCP_HUMAN			4	2606	-			167					E9PFF6|Q658M4|Q68DH6|Q6MZZ5|Q8WV98|Q9NWR7|Q9P221	Missense_Mutation	SNP	ENST00000453200.1	37	c.370G>A	CCDS47578.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	15.20	2.762287	0.49468	.	.	ENSG00000106608	ENST00000223341;ENST00000336086;ENST00000402306;ENST00000443736;ENST00000453200;ENST00000447717;ENST00000426198	T;T;T;T;T;T;T	0.48201	0.82;0.82;0.82;0.82;0.82;0.82;0.82	5.38	5.38	0.77491	.	.	.	.	.	T	0.64681	0.2620	L	0.61387	1.9	0.35228	D	0.776668	D;D	0.89917	1.0;1.0	D;D	0.71870	0.975;0.975	T	0.68618	-0.5361	9	0.29301	T	0.29	-43.298	16.6204	0.84928	0.0:1.0:0.0:0.0	.	158;167	Q8TCY9-2;Q8TCY9	.;URGCP_HUMAN	N	124;124;158;124;167;124;124	ENSP00000223341:D124N;ENSP00000336872:D124N;ENSP00000384955:D158N;ENSP00000392136:D124N;ENSP00000396918:D167N;ENSP00000402803:D124N;ENSP00000389990:D124N	ENSP00000223341:D124N	D	-	1	0	URGCP	43885088	0.421000	0.25465	0.950000	0.38849	0.506000	0.33950	0.834000	0.27518	2.523000	0.85059	0.655000	0.94253	GAC		0.557	URGCP-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000338995.1	NM_001077664		24	28	0	0	0	1	0	24	28					T	43918563	C	T	43918563	3	4	435	1	0	0	0	0	1	0	0	0	17023	884	31	2	2300	2	URGCP	7	43918563	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	378214	43918563	115220100	3553	24478											
PGAM2	5224	broad.mit.edu	37	chr7	44102514	44102514	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaggttcagctccatgatcGcctggtctgacatccctatg	7	11	10	13	1	2	2	1	2	1	0	5	2	4	2	3	2	1	3	3	2	1	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:44102514G>A	ENST00000297283.3	-	3	668	c.611C>T	c.(610-612)gCg>gTg	p.A204V	AC017116.11_ENST00000445938.1_RNA	NM_000290.3	NP_000281.2	P15259	PGAM2_HUMAN	phosphoglycerate mutase 2 (muscle)	204					carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|response to mercury ion (GO:0046689)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)|striated muscle contraction (GO:0006941)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	2,3-bisphosphoglycerate-dependent phosphoglycerate mutase activity (GO:0046538)|bisphosphoglycerate 2-phosphatase activity (GO:0004083)|bisphosphoglycerate mutase activity (GO:0004082)|cofactor binding (GO:0048037)|phosphoglycerate mutase activity (GO:0004619)			large_intestine(2)|lung(4)|ovary(1)|stomach(1)	8						CTCCATGATCGCCTGGTCTGA	0.547																																						ENST00000297283.3																			0				large_intestine(2)|lung(4)|ovary(1)|stomach(1)	8						c.(610-612)gCg>gTg		phosphoglycerate mutase 2 (muscle)							136	112	120					7																	44102514		2203	4300	6503	SO:0001583	missense	5224				gluconeogenesis|glycolysis|striated muscle contraction	cytosol	2,3-bisphospho-D-glycerate 2-phosphohydrolase activity|bisphosphoglycerate mutase activity	g.chr7:44102514G>A		CCDS34624.1	7p13-p12	2008-11-17			ENSG00000164708	ENSG00000164708	5.4.2.1, 3.1.3.13, 5.4.2.4		8889	protein-coding gene	gene with protein product		612931					Standard	NM_000290		Approved	PGAM-M	uc003tjs.3	P15259	OTTHUMG00000155355	ENST00000297283.3:c.611C>T	7.37:g.44102514G>A	ENSP00000297283:p.Ala204Val						p.A204V	NM_000290.3	NP_000281.2	P15259	PGAM2_HUMAN			3	668	-			204						Missense_Mutation	SNP	ENST00000297283.3	37	c.611C>T	CCDS34624.1	.	.	.	.	.	.	.	.	.	.	G	15.71	2.915293	0.52546	.	.	ENSG00000164708	ENST00000297283	T	0.80653	-1.4	4.82	4.82	0.62117	.	0.000000	0.85682	D	0.000000	D	0.82351	0.5018	M	0.78285	2.405	0.80722	D	1	D	0.61080	0.989	P	0.44561	0.453	D	0.85878	0.1420	10	0.62326	D	0.03	-34.7586	15.8005	0.78450	0.0:0.0:1.0:0.0	.	204	P15259	PGAM2_HUMAN	V	204	ENSP00000297283:A204V	ENSP00000297283:A204V	A	-	2	0	PGAM2	44069039	1.000000	0.71417	1.000000	0.80357	0.788000	0.44548	5.417000	0.66423	2.416000	0.81992	0.456000	0.33151	GCG		0.547	PGAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339614.1			21	24	0	0	0	1	0	21	24					A	44102514	G	A	44102514	3	1	435	1	0	0	0	0	1	0	0	0	11774	1087	38	1	154	1	PGAM2	7	44102514	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	183951	44102514	115036149	3554	24479											
PGAM2	5224	broad.mit.edu	37	chr7	44104760	44104760	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcttctcgtccatcgggggCggcgggatgtcgaaggagcg	5	8	18	10	6	1	0	0	0	1	0	5	3	2	2	1	5	2	1	1	5	1	1	rs202087044		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:44104760C>T	ENST00000297283.3	-	1	426	c.369G>A	c.(367-369)ccG>ccA	p.P123P	AC017116.11_ENST00000445938.1_RNA	NM_000290.3	NP_000281.2	P15259	PGAM2_HUMAN	phosphoglycerate mutase 2 (muscle)	123	Poly-Pro.				carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|response to mercury ion (GO:0046689)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)|striated muscle contraction (GO:0006941)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	2,3-bisphosphoglycerate-dependent phosphoglycerate mutase activity (GO:0046538)|bisphosphoglycerate 2-phosphatase activity (GO:0004083)|bisphosphoglycerate mutase activity (GO:0004082)|cofactor binding (GO:0048037)|phosphoglycerate mutase activity (GO:0004619)			large_intestine(2)|lung(4)|ovary(1)|stomach(1)	8						CCATCGGGGGCGGCGGGATGT	0.632																																						ENST00000297283.3																			0				large_intestine(2)|lung(4)|ovary(1)|stomach(1)	8						c.(367-369)ccG>ccA		phosphoglycerate mutase 2 (muscle)							51	50	50					7																	44104760		2203	4300	6503	SO:0001819	synonymous_variant	5224				gluconeogenesis|glycolysis|striated muscle contraction	cytosol	2,3-bisphospho-D-glycerate 2-phosphohydrolase activity|bisphosphoglycerate mutase activity	g.chr7:44104760C>T		CCDS34624.1	7p13-p12	2008-11-17			ENSG00000164708	ENSG00000164708	5.4.2.1, 3.1.3.13, 5.4.2.4		8889	protein-coding gene	gene with protein product		612931					Standard	NM_000290		Approved	PGAM-M	uc003tjs.3	P15259	OTTHUMG00000155355	ENST00000297283.3:c.369G>A	7.37:g.44104760C>T						AC017116.11_ENST00000445938.1_RNA	p.P123P	NM_000290.3	NP_000281.2	P15259	PGAM2_HUMAN			1	426	-			123			Poly-Pro.			Silent	SNP	ENST00000297283.3	37	c.369G>A	CCDS34624.1																																																																																				0.632	PGAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339614.1			11	18	0	0	0	1	0	11	18					T	44104760	C	T	44104760	2	4	435	1	0	0	0	0	0	0	0	1	11774	755	27	1		1	PGAM2	7	44104760	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	2246	44104760	115033903	3555	24480											
AEBP1	165	broad.mit.edu	37	chr7	44151145	44151145	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aggagtgccccaccatcaccCgcacttacagcctgggcaag	10	5	10	16	1	1	0	1	0	0	0	1	1	1	1	5	2	3	2	5	2	2	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:44151145C>T	ENST00000223357.3	+	15	2061	c.1756C>T	c.(1756-1758)Cgc>Tgc	p.R586C	AEBP1_ENST00000450684.2_Missense_Mutation_p.R161C|MIR4649_ENST00000582839.1_RNA	NM_001129.3	NP_001120.3	Q8IUX7	AEBP1_HUMAN	AE binding protein 1	586	Interaction with MAPK1 and MAPK3. {ECO:0000250}.|Interaction with PTEN. {ECO:0000250}.				cell adhesion (GO:0007155)|muscle organ development (GO:0007517)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	carboxypeptidase activity (GO:0004180)|metallocarboxypeptidase activity (GO:0004181)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(13)|upper_aerodigestive_tract(2)	33						CACCATCACCCGCACTTACAG	0.602																																						ENST00000223357.3																			0				NS(1)|breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(13)|upper_aerodigestive_tract(2)	33						c.(1756-1758)Cgc>Tgc		AE binding protein 1							84	70	75					7																	44151145		2203	4300	6503	SO:0001583	missense	165				cell adhesion|muscle organ development|proteolysis|skeletal system development	cytoplasm|extracellular space|nucleus	DNA binding|metallocarboxypeptidase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr7:44151145C>T	D86479	CCDS5476.1	7p	2008-07-18	2001-11-28		ENSG00000106624	ENSG00000106624			303	protein-coding gene	gene with protein product	"aortic carboxypeptidase-like protein", "adipocyte enhancer binding protein 1"	602981	"AE-binding protein 1"			8920928	Standard	NM_001129		Approved	ACLP	uc003tkb.4	Q8IUX7	OTTHUMG00000023362	ENST00000223357.3:c.1756C>T	7.37:g.44151145C>T	ENSP00000223357:p.Arg586Cys					AEBP1_ENST00000450684.2_Missense_Mutation_p.R161C	p.R586C	NM_001129.3	NP_001120.3	Q8IUX7	AEBP1_HUMAN			15	2061	+			586			Interaction with MAPK1 and MAPK3 (By similarity).|Interaction with PTEN (By similarity).		Q14113|Q59ER7|Q6ZSC7|Q7KZ79	Missense_Mutation	SNP	ENST00000223357.3	37	c.1756C>T	CCDS5476.1	.	.	.	.	.	.	.	.	.	.	C	25.8	4.676505	0.88445	.	.	ENSG00000106624	ENST00000223357;ENST00000450684	T;T	0.13196	2.61;2.61	5.36	5.36	0.76844	Peptidase M14, carboxypeptidase A (2);	0.051865	0.64402	N	0.000001	T	0.46502	0.1396	M	0.88377	2.95	0.58432	D	0.999999	B;D	0.89917	0.175;1.0	B;D	0.81914	0.015;0.995	T	0.55354	-0.8154	10	0.87932	D	0	-30.4662	18.7509	0.91814	0.0:1.0:0.0:0.0	.	161;586	Q8IUX7-2;Q8IUX7	.;AEBP1_HUMAN	C	586;161	ENSP00000223357:R586C;ENSP00000398878:R161C	ENSP00000223357:R586C	R	+	1	0	AEBP1	44117670	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	4.182000	0.58310	2.528000	0.85240	0.549000	0.68633	CGC		0.602	AEBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250993.2	NM_001129		8	14	0	0	0	1	0	8	14					T	44151145	C	T	44151145	3	4	435	1	0	0	0	0	1	0	0	0	349	652	23	2	1814	2	AEBP1	7	44151145	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	46385	44151145	114987518	3556	24481											
POLD2	5425	broad.mit.edu	37	chr7	44154942	44154942	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtgttgccacaaaagtagaCatgcgggcactctgggaaga	12	7	14	8	1	1	2	0	0	1	2	1	3	1	3	1	3	2	3	1	3	4	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:44154942C>T	ENST00000406581.2	-	11	1850	c.1201G>A	c.(1201-1203)Gtc>Atc	p.V401I	POLD2_ENST00000452185.1_Missense_Mutation_p.V401I|POLD2_ENST00000223361.3_Missense_Mutation_p.V387I	NM_001256879.1	NP_001243808.1	P49005	DPOD2_HUMAN	polymerase (DNA directed), delta 2, accessory subunit	401					base-excision repair (GO:0006284)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA strand elongation involved in DNA replication (GO:0006271)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	delta DNA polymerase complex (GO:0043625)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|skin(1)|urinary_tract(1)	12						CAAAAGTAGACATGCGGGCAC	0.532																																						ENST00000406581.2																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|skin(1)|urinary_tract(1)	12						c.(1201-1203)Gtc>Atc		polymerase (DNA directed), delta 2, accessory subunit							87	96	93					7																	44154942		2203	4300	6503	SO:0001583	missense	5425				base-excision repair|DNA strand elongation involved in DNA replication|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	DNA binding|DNA-directed DNA polymerase activity|protein binding	g.chr7:44154942C>T		CCDS5477.1, CCDS75586.1	7p13	2012-05-18	2012-05-18		ENSG00000106628	ENSG00000106628		"DNA polymerases"	9176	protein-coding gene	gene with protein product	"Pol delta B subunit (p50)", "DNA polymerase delta subunit p50"	600815	"polymerase (DNA directed), delta 2, regulatory subunit (50kD)", "polymerase (DNA directed), delta 2, regulatory subunit 50kDa"			8530069	Standard	NM_001127218		Approved		uc003tkf.5	P49005	OTTHUMG00000022909	ENST00000406581.2:c.1201G>A	7.37:g.44154942C>T	ENSP00000386105:p.Val401Ile					POLD2_ENST00000223361.3_Missense_Mutation_p.V387I|POLD2_ENST00000452185.1_Missense_Mutation_p.V401I	p.V401I	NM_001256879.1	NP_001243808.1	P49005	DPOD2_HUMAN			11	1850	-			401					A4D2J4|B2R5S4	Missense_Mutation	SNP	ENST00000406581.2	37	c.1201G>A	CCDS5477.1	.	.	.	.	.	.	.	.	.	.	C	22.2	4.264777	0.80358	.	.	ENSG00000106628	ENST00000406581;ENST00000223361;ENST00000452185	T;T;T	0.30448	1.53;1.56;1.53	5.95	5.95	0.96441	DNA polymerase alpha/epsilon, subunit B (1);	0.000000	0.85682	D	0.000000	T	0.36303	0.0962	L	0.50919	1.6	0.80722	D	1	P;P	0.42908	0.612;0.793	B;B	0.44108	0.441;0.326	T	0.01839	-1.1263	10	0.19590	T	0.45	-13.3314	19.9958	0.97383	0.0:1.0:0.0:0.0	.	401;387	P49005;F8W8R3	DPOD2_HUMAN;.	I	401;387;401	ENSP00000386105:V401I;ENSP00000223361:V387I;ENSP00000395231:V401I	ENSP00000223361:V387I	V	-	1	0	POLD2	44121467	0.999000	0.42202	0.980000	0.43619	0.950000	0.60333	4.132000	0.57977	2.825000	0.97269	0.655000	0.94253	GTC		0.532	POLD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250994.2	NM_001127218		8	56	0	0	0	1	0	8	56					T	44154942	C	T	44154942	3	4	435	1	0	0	0	0	1	0	0	0	12191	478	17	3	216	3	POLD2	7	44154942	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	3797	44154942	114983721	3557	24482											
GCK	2645	broad.mit.edu	37	chr7	44185141	44185141	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	catccacgcccacagtgatgCgcattacgtcctcgctgcgg	7	8	10	16	5	0	1	0	1	0	0	3	1	2	1	3	1	3	2	3	1	1	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:44185141C>T	ENST00000403799.3	-	9	1677	c.1208G>A	c.(1207-1209)cGc>cAc	p.R403H	GCK_ENST00000345378.2_Missense_Mutation_p.R404H|GCK_ENST00000395796.3_Missense_Mutation_p.R402H|GCK_ENST00000437084.1_Missense_Mutation_p.R386H	NM_000162.3	NP_000153.1	P35557	HXK4_HUMAN	glucokinase (hexokinase 4)	403	Hexokinase type-2.				calcium ion import (GO:0070509)|carbohydrate metabolic process (GO:0005975)|cellular glucose homeostasis (GO:0001678)|cellular response to glucose starvation (GO:0042149)|cellular response to insulin stimulus (GO:0032869)|cellular response to leptin stimulus (GO:0044320)|detection of glucose (GO:0051594)|endocrine pancreas development (GO:0031018)|fructose 2,6-bisphosphate metabolic process (GO:0006003)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glucose transport (GO:0015758)|glycogen biosynthetic process (GO:0005978)|glycolytic process (GO:0006096)|hexose transport (GO:0008645)|NADP metabolic process (GO:0006739)|negative regulation of epinephrine secretion (GO:0032811)|negative regulation of gluconeogenesis (GO:0045721)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of glycolytic process (GO:0045821)|positive regulation of insulin secretion (GO:0032024)|positive regulation of phosphorylation (GO:0042327)|regulation of glucose transport (GO:0010827)|regulation of glycolytic process (GO:0006110)|regulation of insulin secretion (GO:0050796)|regulation of potassium ion transport (GO:0043266)|second-messenger-mediated signaling (GO:0019932)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|secretory granule (GO:0030141)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|glucokinase activity (GO:0004340)|glucose binding (GO:0005536)|magnesium ion binding (GO:0000287)			central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	37						CACAGTGATGCGCATTACGTC	0.682																																						ENST00000403799.3																			0				central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	37						c.(1207-1209)cGc>cAc		glucokinase (hexokinase 4)							32	32	32					7																	44185141		2203	4300	6503	SO:0001583	missense	2645				cellular response to insulin stimulus|cellular response to leptin stimulus|detection of glucose|endocrine pancreas development|glucose homeostasis|glucose transport|glycolysis|negative regulation of gluconeogenesis|positive regulation of glycogen biosynthetic process|positive regulation of insulin secretion|regulation of glucose transport|regulation of glycolysis|transmembrane transport	cytosol|nucleoplasm	ATP binding|glucokinase activity|glucose binding|protein binding	g.chr7:44185141C>T	AF041014	CCDS5479.1, CCDS5480.1, CCDS5481.1	7p15.3-p15.1	2008-02-07	2008-02-07		ENSG00000106633	ENSG00000106633	2.7.1.2, 2.7.1.1		4195	protein-coding gene	gene with protein product		138079	"maturity onset diabetes of the young 2"	MODY2		1740341, 1502186	Standard	NM_033507		Approved	HK4	uc003tkk.1	P35557	OTTHUMG00000022903	ENST00000403799.3:c.1208G>A	7.37:g.44185141C>T	ENSP00000384247:p.Arg403His					GCK_ENST00000395796.3_Missense_Mutation_p.R402H|GCK_ENST00000345378.2_Missense_Mutation_p.R404H|GCK_ENST00000437084.1_Missense_Mutation_p.R386H	p.R403H	NM_000162.3	NP_000153.1	P35557	HXK4_HUMAN			9	1677	-			403					A4D2J2|A4D2J3|Q05810	Missense_Mutation	SNP	ENST00000403799.3	37	c.1208G>A	CCDS5479.1	.	.	.	.	.	.	.	.	.	.	C	15.22	2.769554	0.49680	.	.	ENSG00000106633	ENST00000336642;ENST00000403799;ENST00000395796;ENST00000345378;ENST00000437084	D;D;D;D;D	0.96554	-4.05;-4.05;-4.05;-4.05;-4.05	5.57	4.69	0.59074	Hexokinase, C-terminal (1);	0.249453	0.37623	N	0.002016	D	0.92795	0.7709	L	0.43598	1.365	0.43126	D	0.994857	B;B;B;B;B	0.14012	0.005;0.009;0.002;0.002;0.005	B;B;B;B;B	0.08055	0.002;0.003;0.0;0.002;0.002	D	0.89072	0.3470	10	0.33141	T	0.24	-31.478	9.8109	0.40822	0.0:0.7995:0.0:0.2005	.	403;404;402;386;403	P35557;P35557-2;P35557-3;C9JQD1;A7LFL1	HXK4_HUMAN;.;.;.;.	H	87;403;402;404;386	ENSP00000338009:R87H;ENSP00000384247:R403H;ENSP00000379142:R402H;ENSP00000223366:R404H;ENSP00000402840:R386H	ENSP00000338009:R87H	R	-	2	0	GCK	44151666	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	1.709000	0.37909	1.356000	0.45884	0.561000	0.74099	CGC		0.682	GCK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251069.2			12	11	0	0	0	1	0	12	11					T	44185141	C	T	44185141	3	4	435	1	0	0	0	0	1	0	0	0	6293	768	27	1	197	1	GCK	7	44185141	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	30199	44185141	114953522	3558	24483											
NPC1L1	29881	broad.mit.edu	37	chr7	44553152	44553152	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgttgtcagctgtggagactCgggaggggtgatttgggcaa	7	11	18	5	1	1	2	1	1	0	1	2	4	1	3	0	5	1	3	0	5	1	2	rs371572587		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:44553152C>T	ENST00000289547.4	-	20	4029	c.3974G>A	c.(3973-3975)cGa>cAa	p.R1325Q	NPC1L1_ENST00000381160.3_Missense_Mutation_p.R1298Q|NPC1L1_ENST00000546276.1_Missense_Mutation_p.R1252Q	NM_013389.2	NP_037521.2	Q9UHC9	NPCL1_HUMAN	NPC1-like 1	1325					cholesterol biosynthetic process (GO:0006695)|cholesterol transport (GO:0030301)|intestinal cholesterol absorption (GO:0030299)|lipoprotein metabolic process (GO:0042157)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|sterol transport (GO:0015918)	brush border membrane (GO:0031526)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	drug binding (GO:0008144)|hedgehog receptor activity (GO:0008158)|myosin V binding (GO:0031489)|Rab GTPase binding (GO:0017137)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	57					Ezetimibe(DB00973)	TGTGGAGACTCGGGAGGGGTG	0.582																																						ENST00000289547.4																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	57						c.(3973-3975)cGa>cAa		NPC1-like 1	Ezetimibe(DB00973)	C	GLN/ARG,GLN/ARG	0,4406		0,0,2203	118	121	120		3974,3893	-3.6	0	7		120	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	NPC1L1	NM_013389.2,NM_001101648.1	43,43	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign,benign	1325/1360,1298/1333	44553152	1,13005	2203	4300	6503	SO:0001583	missense	29881				cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process	apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane	hedgehog receptor activity|protein binding	g.chr7:44553152C>T		CCDS5491.1, CCDS43575.1, CCDS75587.1	7p13	2012-11-15	2012-11-15		ENSG00000015520	ENSG00000015520			7898	protein-coding gene	gene with protein product		608010	"NPC1 (Niemann-Pick disease, type C1, gene)-like 1"			10783261	Standard	NM_013389		Approved		uc003tlb.3	Q9UHC9	OTTHUMG00000023691	ENST00000289547.4:c.3974G>A	7.37:g.44553152C>T	ENSP00000289547:p.Arg1325Gln					NPC1L1_ENST00000546276.1_Missense_Mutation_p.R1252Q|NPC1L1_ENST00000381160.3_Missense_Mutation_p.R1298Q	p.R1325Q	NM_013389.2	NP_037521.2	Q9UHC9	NPCL1_HUMAN			20	4029	-			1325					A4D2J7|B7ZLE6|D3DVK9|Q17RV5|Q6R3Q4|Q9UHC8	Missense_Mutation	SNP	ENST00000289547.4	37	c.3974G>A	CCDS5491.1	.	.	.	.	.	.	.	.	.	.	C	3.504	-0.101223	0.06967	0.0	1.16E-4	ENSG00000015520	ENST00000289547;ENST00000381160;ENST00000546276	D;D;D	0.92805	-2.99;-3.02;-3.11	2.77	-3.61	0.04556	.	0.865653	0.09787	N	0.755885	T	0.75989	0.3925	N	0.08118	0	0.09310	N	1	B;B;B	0.10296	0.0;0.0;0.003	B;B;B	0.01281	0.0;0.0;0.0	T	0.63462	-0.6632	10	0.17832	T	0.49	-11.9136	1.4579	0.02389	0.1377:0.166:0.2144:0.4819	.	1252;1298;1325	B7ZLE6;Q17RV5;D3DVK9	.;.;.	Q	1325;1298;1252	ENSP00000289547:R1325Q;ENSP00000370552:R1298Q;ENSP00000438033:R1252Q	ENSP00000289547:R1325Q	R	-	2	0	NPC1L1	44519677	0.000000	0.05858	0.000000	0.03702	0.022000	0.10575	-0.675000	0.05227	-0.917000	0.03813	-0.657000	0.03884	CGA		0.582	NPC1L1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251256.1	NM_013389		12	55	0	0	0	1	0	12	55					T	44553152	C	T	44553152	3	4	435	1	0	0	0	0	1	0	0	0	10571	884	31	2	109	2	NPC1L1	7	44553152	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	368011	44553152	114585511	3559	24484											
NPC1L1	29881	broad.mit.edu	37	chr7	44575866	44575866	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agcccctacctcagccatgaAcgtgacctggaacatgccag	11	6	9	15	1	1	2	1	2	0	0	1	3	1	3	6	1	6	0	6	1	3	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:44575866A>G	ENST00000289547.4	-	4	1898	c.1843T>C	c.(1843-1845)Ttc>Ctc	p.F615L	NPC1L1_ENST00000423141.1_Missense_Mutation_p.F615L|NPC1L1_ENST00000381160.3_Missense_Mutation_p.F615L|NPC1L1_ENST00000546276.1_Missense_Mutation_p.F615L	NM_013389.2	NP_037521.2	Q9UHC9	NPCL1_HUMAN	NPC1-like 1	615					cholesterol biosynthetic process (GO:0006695)|cholesterol transport (GO:0030301)|intestinal cholesterol absorption (GO:0030299)|lipoprotein metabolic process (GO:0042157)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|sterol transport (GO:0015918)	brush border membrane (GO:0031526)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	drug binding (GO:0008144)|hedgehog receptor activity (GO:0008158)|myosin V binding (GO:0031489)|Rab GTPase binding (GO:0017137)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	57					Ezetimibe(DB00973)	TCAGCCATGAACGTGACCTGG	0.652																																						ENST00000289547.4																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	57						c.(1843-1845)Ttc>Ctc		NPC1-like 1	Ezetimibe(DB00973)						77	74	75					7																	44575866		2203	4300	6503	SO:0001583	missense	29881				cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process	apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane	hedgehog receptor activity|protein binding	g.chr7:44575866A>G		CCDS5491.1, CCDS43575.1, CCDS75587.1	7p13	2012-11-15	2012-11-15		ENSG00000015520	ENSG00000015520			7898	protein-coding gene	gene with protein product		608010	"NPC1 (Niemann-Pick disease, type C1, gene)-like 1"			10783261	Standard	NM_013389		Approved		uc003tlb.3	Q9UHC9	OTTHUMG00000023691	ENST00000289547.4:c.1843T>C	7.37:g.44575866A>G	ENSP00000289547:p.Phe615Leu					NPC1L1_ENST00000381160.3_Missense_Mutation_p.F615L|NPC1L1_ENST00000423141.1_Missense_Mutation_p.F615L|NPC1L1_ENST00000546276.1_Missense_Mutation_p.F615L	p.F615L	NM_013389.2	NP_037521.2	Q9UHC9	NPCL1_HUMAN			4	1898	-			615					A4D2J7|B7ZLE6|D3DVK9|Q17RV5|Q6R3Q4|Q9UHC8	Missense_Mutation	SNP	ENST00000289547.4	37	c.1843T>C	CCDS5491.1	.	.	.	.	.	.	.	.	.	.	a	22.4	4.288156	0.80803	.	.	ENSG00000015520	ENST00000289547;ENST00000381160;ENST00000546276;ENST00000423141	D;D;D;D	0.91011	-2.77;-2.77;-2.77;-1.89	4.11	4.11	0.48088	.	0.068087	0.64402	D	0.000010	D	0.93044	0.7786	M	0.89534	3.04	0.37952	D	0.932687	P;D;P;D	0.56287	0.948;0.975;0.865;0.967	P;P;P;B	0.49953	0.573;0.627;0.542;0.387	D	0.93844	0.7139	10	0.52906	T	0.07	-32.7613	9.4878	0.38940	1.0:0.0:0.0:0.0	.	615;615;615;615	B7ZLE6;Q9UHC9-3;Q17RV5;D3DVK9	.;.;.;.	L	615	ENSP00000289547:F615L;ENSP00000370552:F615L;ENSP00000438033:F615L;ENSP00000404670:F615L	ENSP00000289547:F615L	F	-	1	0	NPC1L1	44542391	1.000000	0.71417	0.961000	0.40146	0.788000	0.44548	7.090000	0.76916	1.478000	0.48253	0.248000	0.18094	TTC		0.652	NPC1L1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251256.1	NM_013389		8	43	0	0	0	1	0	8	43					G	44575866	A	G	44575866	3	3	435	1	0	0	0	0	1	0	0	0	10571	43	2	4	2304	4	NPC1L1	7	44575866	Missense_Mutation	SNP	A	TCGA-XK-AAIW-01A-11D-A41K-08	22714	44575866	114562797	3560	24485											
NPC1L1	29881	broad.mit.edu	37	chr7	44575991	44575991	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtaattgttgagggagaacGtcatgatcagggcctctgcc	9	10	14	8	1	3	3	2	2	1	1	3	4	3	3	2	3	2	2	2	3	2	3	rs199844547		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:44575991G>A	ENST00000289547.4	-	4	1773	c.1718C>T	c.(1717-1719)aCg>aTg	p.T573M	NPC1L1_ENST00000423141.1_Missense_Mutation_p.T573M|NPC1L1_ENST00000381160.3_Missense_Mutation_p.T573M|NPC1L1_ENST00000546276.1_Missense_Mutation_p.T573M	NM_013389.2	NP_037521.2	Q9UHC9	NPCL1_HUMAN	NPC1-like 1	573					cholesterol biosynthetic process (GO:0006695)|cholesterol transport (GO:0030301)|intestinal cholesterol absorption (GO:0030299)|lipoprotein metabolic process (GO:0042157)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|sterol transport (GO:0015918)	brush border membrane (GO:0031526)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	drug binding (GO:0008144)|hedgehog receptor activity (GO:0008158)|myosin V binding (GO:0031489)|Rab GTPase binding (GO:0017137)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	57					Ezetimibe(DB00973)	GAGGGAGAACGTCATGATCAG	0.602													G|||	1	0.000199681	0	0.0014	5008	,	,		16952	0		0	False		,,,				2504	0					ENST00000289547.4																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	57						c.(1717-1719)aCg>aTg		NPC1-like 1	Ezetimibe(DB00973)						79	82	81					7																	44575991		2203	4300	6503	SO:0001583	missense	29881				cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process	apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane	hedgehog receptor activity|protein binding	g.chr7:44575991G>A		CCDS5491.1, CCDS43575.1, CCDS75587.1	7p13	2012-11-15	2012-11-15		ENSG00000015520	ENSG00000015520			7898	protein-coding gene	gene with protein product		608010	"NPC1 (Niemann-Pick disease, type C1, gene)-like 1"			10783261	Standard	NM_013389		Approved		uc003tlb.3	Q9UHC9	OTTHUMG00000023691	ENST00000289547.4:c.1718C>T	7.37:g.44575991G>A	ENSP00000289547:p.Thr573Met					NPC1L1_ENST00000381160.3_Missense_Mutation_p.T573M|NPC1L1_ENST00000423141.1_Missense_Mutation_p.T573M|NPC1L1_ENST00000546276.1_Missense_Mutation_p.T573M	p.T573M	NM_013389.2	NP_037521.2	Q9UHC9	NPCL1_HUMAN			4	1773	-			573					A4D2J7|B7ZLE6|D3DVK9|Q17RV5|Q6R3Q4|Q9UHC8	Missense_Mutation	SNP	ENST00000289547.4	37	c.1718C>T	CCDS5491.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	g	19.66	3.869795	0.72065	.	.	ENSG00000015520	ENST00000289547;ENST00000381160;ENST00000546276;ENST00000423141	D;D;D;D	0.95690	-3.65;-3.64;-3.78;-2.03	4.25	4.25	0.50352	.	0.000000	0.85682	D	0.000000	D	0.98147	0.9388	M	0.93978	3.48	0.52501	D	0.999956	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.83275	0.991;0.995;0.996;0.983	D	0.99174	1.0865	10	0.72032	D	0.01	-40.1979	14.1509	0.65384	0.0:0.0:1.0:0.0	.	573;573;573;573	B7ZLE6;Q9UHC9-3;Q17RV5;D3DVK9	.;.;.;.	M	573	ENSP00000289547:T573M;ENSP00000370552:T573M;ENSP00000438033:T573M;ENSP00000404670:T573M	ENSP00000289547:T573M	T	-	2	0	NPC1L1	44542516	1.000000	0.71417	1.000000	0.80357	0.736000	0.42039	8.398000	0.90195	1.899000	0.54978	0.298000	0.19748	ACG		0.602	NPC1L1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251256.1	NM_013389		16	28	0	0	0	1	0	16	28					A	44575991	G	A	44575991	3	1	435	1	0	0	0	0	1	0	0	0	10571	1145	40	1	2429	1	NPC1L1	7	44575991	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	125	44575991	114562672	3561	24486											
NPC1L1	29881	broad.mit.edu	37	chr7	44579810	44579810	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcacctgtgatcttgcgggcCggcgtgttggacaggcagga	6	9	16	10	3	2	1	1	1	1	0	2	3	2	3	2	5	1	2	2	5	0	2	rs374049578		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:44579810C>T	ENST00000289547.4	-	2	241	c.186G>A	c.(184-186)ccG>ccA	p.P62P	NPC1L1_ENST00000423141.1_Silent_p.P62P|NPC1L1_ENST00000381160.3_Silent_p.P62P|NPC1L1_ENST00000546276.1_Silent_p.P62P	NM_013389.2	NP_037521.2	Q9UHC9	NPCL1_HUMAN	NPC1-like 1	62					cholesterol biosynthetic process (GO:0006695)|cholesterol transport (GO:0030301)|intestinal cholesterol absorption (GO:0030299)|lipoprotein metabolic process (GO:0042157)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|sterol transport (GO:0015918)	brush border membrane (GO:0031526)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	drug binding (GO:0008144)|hedgehog receptor activity (GO:0008158)|myosin V binding (GO:0031489)|Rab GTPase binding (GO:0017137)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	57					Ezetimibe(DB00973)	TCTTGCGGGCCGGCGTGTTGG	0.592													C|||	1	0.000199681	8e-04	0	5008	,	,		16680	0		0	False		,,,				2504	0					ENST00000289547.4																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	57						c.(184-186)ccG>ccA		NPC1-like 1	Ezetimibe(DB00973)	C	,	0,4406		0,0,2203	65	65	65		186,186	-9.8	0	7		65	1,8599		0,1,4299	no	coding-synonymous,coding-synonymous	NPC1L1	NM_001101648.1,NM_013389.2	,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,	62/1333,62/1360	44579810	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	29881				cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process	apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane	hedgehog receptor activity|protein binding	g.chr7:44579810C>T		CCDS5491.1, CCDS43575.1, CCDS75587.1	7p13	2012-11-15	2012-11-15		ENSG00000015520	ENSG00000015520			7898	protein-coding gene	gene with protein product		608010	"NPC1 (Niemann-Pick disease, type C1, gene)-like 1"			10783261	Standard	NM_013389		Approved		uc003tlb.3	Q9UHC9	OTTHUMG00000023691	ENST00000289547.4:c.186G>A	7.37:g.44579810C>T						NPC1L1_ENST00000381160.3_Silent_p.P62P|NPC1L1_ENST00000423141.1_Silent_p.P62P|NPC1L1_ENST00000546276.1_Silent_p.P62P	p.P62P	NM_013389.2	NP_037521.2	Q9UHC9	NPCL1_HUMAN			2	241	-			62					A4D2J7|B7ZLE6|D3DVK9|Q17RV5|Q6R3Q4|Q9UHC8	Silent	SNP	ENST00000289547.4	37	c.186G>A	CCDS5491.1																																																																																				0.592	NPC1L1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251256.1	NM_013389		7	13	0	0	0	1	0	7	13					T	44579810	C	T	44579810	2	4	435	1	0	0	0	0	0	0	0	1	10571	639	23	2		2	NPC1L1	7	44579810	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	3819	44579810	114558853	3562	24487											
DDX56	54606	broad.mit.edu	37	chr7	44612296	44612296	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gctgcaagtggcttaatatgCgagatggggtccctactacc	9	10	12	10	1	0	1	0	0	0	1	1	2	1	1	2	3	4	3	2	3	5	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:44612296C>T	ENST00000258772.5	-	4	537	c.431G>A	c.(430-432)cGc>cAc	p.R144H	DDX56_ENST00000485367.1_5'UTR|DDX56_ENST00000431640.1_Missense_Mutation_p.R144H	NM_001257189.1|NM_019082.3	NP_001244118.1|NP_061955.1	Q9NY93	DDX56_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 56	144	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				ATP catabolic process (GO:0006200)|rRNA processing (GO:0006364)	membrane (GO:0016020)|nucleolus (GO:0005730)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(5)|upper_aerodigestive_tract(1)	16						GCTTAATATGCGAGATGGGGT	0.502																																						ENST00000258772.5																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(5)|upper_aerodigestive_tract(1)	16						c.(430-432)cGc>cAc		DEAD (Asp-Glu-Ala-Asp) box helicase 56							126	120	122					7																	44612296		2203	4300	6503	SO:0001583	missense	54606				rRNA processing	nucleolus	ATP binding|ATP-dependent RNA helicase activity|identical protein binding|RNA binding	g.chr7:44612296C>T	AJ131712	CCDS5492.1, CCDS59053.1	7p13	2012-02-23	2012-02-23		ENSG00000136271	ENSG00000136271		"DEAD-boxes"	18193	protein-coding gene	gene with protein product	"nucleolar helicase of 61 kDa"	608023	"DEAD (Asp-Glu-Ala-Asp) box polypeptide 56"			10749921	Standard	NM_019082		Approved	NOH61	uc003tlg.4	Q9NY93	OTTHUMG00000129211	ENST00000258772.5:c.431G>A	7.37:g.44612296C>T	ENSP00000258772:p.Arg144His					DDX56_ENST00000431640.1_Missense_Mutation_p.R144H|DDX56_ENST00000485367.1_5'UTR	p.R144H	NM_001257189.1|NM_019082.3	NP_001244118.1|NP_061955.1	Q9NY93	DDX56_HUMAN			4	537	-			144			Helicase ATP-binding.		A4D2K9|C9JV95|Q6IAE2|Q9H9I8	Missense_Mutation	SNP	ENST00000258772.5	37	c.431G>A	CCDS5492.1	.	.	.	.	.	.	.	.	.	.	.	34	5.319276	0.95682	.	.	ENSG00000136271	ENST00000258772;ENST00000431640	T;T	0.54479	0.57;0.57	5.48	5.48	0.80851	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.112230	0.64402	D	0.000015	D	0.82435	0.5036	H	0.97611	4.04	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.72338	0.97;0.977	D	0.88356	0.2984	10	0.87932	D	0	-15.3822	17.2396	0.87009	0.0:1.0:0.0:0.0	.	144;144	C9JV95;Q9NY93	.;DDX56_HUMAN	H	144	ENSP00000258772:R144H;ENSP00000393488:R144H	ENSP00000258772:R144H	R	-	2	0	DDX56	44578821	1.000000	0.71417	0.534000	0.28014	0.913000	0.54294	6.407000	0.73280	2.746000	0.94184	0.655000	0.94253	CGC		0.502	DDX56-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251291.1	NM_019082		36	26	0	0	0	1	0	36	26					T	44612296	C	T	44612296	3	4	435	1	0	0	0	0	1	0	0	0	4374	768	27	1	1256	1	DDX56	7	44612296	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	32486	44612296	114526367	3563	24488											
OGDH	4967	broad.mit.edu	37	chr7	44685060	44685060	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctggtagaagcacagcccaaCgtggacaagctcgtggagga	12	5	14	10	2	0	1	0	0	0	1	1	4	0	4	1	4	4	3	1	4	4	1	rs116191385	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:44685060C>T	ENST00000222673.5	+	3	399	c.357C>T	c.(355-357)aaC>aaT	p.N119N	OGDH_ENST00000439616.2_Intron|OGDH_ENST00000543843.1_Silent_p.N59N|OGDH_ENST00000447398.1_Silent_p.N119N|OGDH_ENST00000443864.2_Silent_p.N119N|OGDH_ENST00000449767.1_Silent_p.N119N|OGDH_ENST00000444676.1_Silent_p.N119N	NM_002541.3	NP_002532.2	Q02218	ODO1_HUMAN	oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide)	119					2-oxoglutarate metabolic process (GO:0006103)|cellular metabolic process (GO:0044237)|cellular nitrogen compound metabolic process (GO:0034641)|cerebellar cortex development (GO:0021695)|generation of precursor metabolites and energy (GO:0006091)|glycolytic process (GO:0006096)|hippocampus development (GO:0021766)|lysine catabolic process (GO:0006554)|NADH metabolic process (GO:0006734)|olfactory bulb mitral cell layer development (GO:0061034)|pyramidal neuron development (GO:0021860)|small molecule metabolic process (GO:0044281)|striatum development (GO:0021756)|succinyl-CoA metabolic process (GO:0006104)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)|thalamus development (GO:0021794)|tricarboxylic acid cycle (GO:0006099)	mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrion (GO:0005739)|oxoglutarate dehydrogenase complex (GO:0045252)	metal ion binding (GO:0046872)|oxoglutarate dehydrogenase (NAD+) activity (GO:0034602)|oxoglutarate dehydrogenase (succinyl-transferring) activity (GO:0004591)|thiamine pyrophosphate binding (GO:0030976)			breast(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	36					Valproic Acid(DB00313)	CACAGCCCAACGTGGACAAGC	0.637													C|||	9	0.00179712	0.0061	0	5008	,	,		18649	0		0.001	False		,,,				2504	0					ENST00000222673.5																			0				breast(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	36						c.(355-357)aaC>aaT		oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide)	NADH(DB00157)	C	,,	13,4393	20.2+/-43.8	0,13,2190	77	69	72		357,357,357	-8.8	0.1	7	dbSNP_133	72	1,8599		0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous	OGDH	NM_001003941.2,NM_001165036.1,NM_002541.3	,,	0,14,6489	TT,TC,CC		0.0116,0.2951,0.1076	,,	119/428,119/1020,119/1024	44685060	14,12992	2203	4300	6503	SO:0001819	synonymous_variant	4967				glycolysis|lysine catabolic process|tricarboxylic acid cycle	mitochondrial matrix|mitochondrial membrane	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding	g.chr7:44685060C>T	D10523	CCDS34627.1, CCDS47580.1, CCDS55107.1	7p13-p11.2	2010-11-23			ENSG00000105953	ENSG00000105953	1.2.4.2		8124	protein-coding gene	gene with protein product		613022				8020988, 1542694	Standard	NM_002541		Approved	E1k	uc003tln.3	Q02218	OTTHUMG00000155304	ENST00000222673.5:c.357C>T	7.37:g.44685060C>T						OGDH_ENST00000439616.2_Intron|OGDH_ENST00000443864.2_Silent_p.N119N|OGDH_ENST00000444676.1_Silent_p.N119N|OGDH_ENST00000447398.1_Silent_p.N119N|OGDH_ENST00000543843.1_Silent_p.N59N|OGDH_ENST00000449767.1_Silent_p.N119N	p.N119N	NM_002541.3	NP_002532.2	Q02218	ODO1_HUMAN			3	399	+			119					B4E2U9|D3DVL0|E9PBM1|Q96DD3|Q9UDX0	Silent	SNP	ENST00000222673.5	37	c.357C>T	CCDS34627.1																																																																																				0.637	OGDH-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000339391.1			13	15	0	0	0	1	0	13	15					T	44685060	C	T	44685060	2	4	435	1	0	0	0	0	0	0	0	1	10839	535	19	1		1	OGDH	7	44685060	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	72764	44685060	114453603	3564	24489											
OGDH	4967	broad.mit.edu	37	chr7	44733588	44733588	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggagcaccttccacaaggaCgtggttgtcgatttggtgag	9	10	14	8	2	0	1	0	1	0	0	2	4	1	3	2	4	1	2	2	4	1	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:44733588C>T	ENST00000222673.5	+	11	1542	c.1500C>T	c.(1498-1500)gaC>gaT	p.D500D	OGDH_ENST00000439616.2_Silent_p.D350D|OGDH_ENST00000543843.1_Silent_p.D451D|OGDH_ENST00000447398.1_Silent_p.D511D|OGDH_ENST00000449767.1_Silent_p.D496D|OGDH_ENST00000444676.1_Silent_p.D515D	NM_002541.3	NP_002532.2	Q02218	ODO1_HUMAN	oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide)	500					2-oxoglutarate metabolic process (GO:0006103)|cellular metabolic process (GO:0044237)|cellular nitrogen compound metabolic process (GO:0034641)|cerebellar cortex development (GO:0021695)|generation of precursor metabolites and energy (GO:0006091)|glycolytic process (GO:0006096)|hippocampus development (GO:0021766)|lysine catabolic process (GO:0006554)|NADH metabolic process (GO:0006734)|olfactory bulb mitral cell layer development (GO:0061034)|pyramidal neuron development (GO:0021860)|small molecule metabolic process (GO:0044281)|striatum development (GO:0021756)|succinyl-CoA metabolic process (GO:0006104)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)|thalamus development (GO:0021794)|tricarboxylic acid cycle (GO:0006099)	mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrion (GO:0005739)|oxoglutarate dehydrogenase complex (GO:0045252)	metal ion binding (GO:0046872)|oxoglutarate dehydrogenase (NAD+) activity (GO:0034602)|oxoglutarate dehydrogenase (succinyl-transferring) activity (GO:0004591)|thiamine pyrophosphate binding (GO:0030976)			breast(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	36					Valproic Acid(DB00313)	TCCACAAGGACGTGGTTGTCG	0.597																																						ENST00000222673.5																			0				breast(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	36						c.(1498-1500)gaC>gaT		oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide)	NADH(DB00157)						129	101	110					7																	44733588		2203	4300	6503	SO:0001819	synonymous_variant	4967				glycolysis|lysine catabolic process|tricarboxylic acid cycle	mitochondrial matrix|mitochondrial membrane	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding	g.chr7:44733588C>T	D10523	CCDS34627.1, CCDS47580.1, CCDS55107.1	7p13-p11.2	2010-11-23			ENSG00000105953	ENSG00000105953	1.2.4.2		8124	protein-coding gene	gene with protein product		613022				8020988, 1542694	Standard	NM_002541		Approved	E1k	uc003tln.3	Q02218	OTTHUMG00000155304	ENST00000222673.5:c.1500C>T	7.37:g.44733588C>T						OGDH_ENST00000439616.2_Silent_p.D350D|OGDH_ENST00000444676.1_Silent_p.D515D|OGDH_ENST00000447398.1_Silent_p.D511D|OGDH_ENST00000543843.1_Silent_p.D451D|OGDH_ENST00000449767.1_Silent_p.D496D	p.D500D	NM_002541.3	NP_002532.2	Q02218	ODO1_HUMAN			11	1542	+			500					B4E2U9|D3DVL0|E9PBM1|Q96DD3|Q9UDX0	Silent	SNP	ENST00000222673.5	37	c.1500C>T	CCDS34627.1																																																																																				0.597	OGDH-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000339391.1			6	7	0	0	0	1	0	6	7					T	44733588	C	T	44733588	2	4	435	1	0	0	0	0	0	0	0	1	10839	535	19	1		1	OGDH	7	44733588	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	48528	44733588	114405075	3565	24490											
ZMIZ2	83637	broad.mit.edu	37	chr7	44796659	44796659	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagtgcctgggacagcaggcGtttgctgaaggcggcgccaa	8	6	16	11	3	0	1	0	1	0	0	0	2	0	2	2	4	3	3	2	4	2	1	rs200981133		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:44796659G>A	ENST00000309315.4	+	4	402	c.279G>A	c.(277-279)gcG>gcA	p.A93A	ZMIZ2_ENST00000441627.1_Silent_p.A93A|ZMIZ2_ENST00000265346.7_Silent_p.A93A|ZMIZ2_ENST00000433667.1_Silent_p.A61A|ZMIZ2_ENST00000413916.1_Silent_p.A61A	NM_031449.3	NP_113637.3	Q8NF64	ZMIZ2_HUMAN	zinc finger, MIZ-type containing 2	93	Gly-rich.				positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	mitochondrion (GO:0005739)|nuclear replication fork (GO:0043596)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|zinc ion binding (GO:0008270)	p.A93A(1)		breast(3)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						GACAGCAGGCGTTTGCTGAAG	0.677													G|||	1	0.000199681	0	0	5008	,	,		16642	0		0.001	False		,,,				2504	0				NSCLC(20;604 852 1948 16908 50522)	ENST00000309315.4																			1	Substitution - coding silent(1)	p.A93A(1)	large_intestine(1)	breast(3)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						c.(277-279)gcG>gcA		zinc finger, MIZ-type containing 2		G	,	0,4032		0,0,2016	40	45	44		279,279	-9.8	0.1	7		44	1,8313		0,1,4156	no	coding-synonymous,coding-synonymous	ZMIZ2	NM_031449.3,NM_174929.2	,	0,1,6172	AA,AG,GG		0.012,0.0,0.0081	,	93/921,93/895	44796659	1,12345	2016	4157	6173	SO:0001819	synonymous_variant	83637				positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear replication fork	ligand-dependent nuclear receptor transcription coactivator activity|protein binding|zinc ion binding	g.chr7:44796659G>A	AK090415	CCDS43576.1, CCDS43577.1, CCDS75591.1	7p13	2009-11-06			ENSG00000122515	ENSG00000122515		"Zinc fingers, MIZ-type"	22229	protein-coding gene	gene with protein product		611196					Standard	XM_005249866		Approved	KIAA1886, hZIMP7, ZIMP7, DKFZp761I2123, NET27	uc003tlr.3	Q8NF64	OTTHUMG00000155817	ENST00000309315.4:c.279G>A	7.37:g.44796659G>A						ZMIZ2_ENST00000433667.1_Silent_p.A61A|ZMIZ2_ENST00000441627.1_Silent_p.A93A|ZMIZ2_ENST00000413916.1_Silent_p.A61A|ZMIZ2_ENST00000265346.7_Silent_p.A93A	p.A93A	NM_031449.3	NP_113637.3	Q8NF64	ZMIZ2_HUMAN			4	402	+			93			Gly-rich.		A4D2K7|D3DVL1|O94790|Q0VGB4|Q659A8|Q6JKL5|Q8WTX8|Q96Q01|Q9BQH7	Silent	SNP	ENST00000309315.4	37	c.279G>A	CCDS43576.1																																																																																				0.677	ZMIZ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341790.1	NM_031449		6	35	0	0	0	1	0	6	35					A	44796659	G	A	44796659	2	1	435	1	0	0	0	0	0	0	0	1	17694	1132	40	1		1	ZMIZ2	7	44796659	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	63071	44796659	114342004	3566	24491											
ZMIZ2	83637	broad.mit.edu	37	chr7	44799758	44799758	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tctctcccgcagcccacagaGcagttcaacgggcagggcgc	8	5	12	16	3	2	1	1	0	1	1	4	1	3	1	2	2	3	4	2	2	1	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:44799758G>A	ENST00000309315.4	+	8	1125	c.1002G>A	c.(1000-1002)gaG>gaA	p.E334E	ZMIZ2_ENST00000441627.1_Silent_p.E334E|ZMIZ2_ENST00000265346.7_Intron|ZMIZ2_ENST00000433667.1_Silent_p.E302E|ZMIZ2_ENST00000413916.1_Intron	NM_031449.3	NP_113637.3	Q8NF64	ZMIZ2_HUMAN	zinc finger, MIZ-type containing 2	334	Pro-rich.				positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	mitochondrion (GO:0005739)|nuclear replication fork (GO:0043596)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|zinc ion binding (GO:0008270)			breast(3)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						AGCCCACAGAGCAGTTCAACG	0.682																																					NSCLC(20;604 852 1948 16908 50522)	ENST00000309315.4																			0				breast(3)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						c.(1000-1002)gaG>gaA		zinc finger, MIZ-type containing 2							29	36	34					7																	44799758		1997	4165	6162	SO:0001819	synonymous_variant	83637				positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear replication fork	ligand-dependent nuclear receptor transcription coactivator activity|protein binding|zinc ion binding	g.chr7:44799758G>A	AK090415	CCDS43576.1, CCDS43577.1, CCDS75591.1	7p13	2009-11-06			ENSG00000122515	ENSG00000122515		"Zinc fingers, MIZ-type"	22229	protein-coding gene	gene with protein product		611196					Standard	XM_005249866		Approved	KIAA1886, hZIMP7, ZIMP7, DKFZp761I2123, NET27	uc003tlr.3	Q8NF64	OTTHUMG00000155817	ENST00000309315.4:c.1002G>A	7.37:g.44799758G>A						ZMIZ2_ENST00000433667.1_Silent_p.E302E|ZMIZ2_ENST00000441627.1_Silent_p.E334E|ZMIZ2_ENST00000413916.1_Intron|ZMIZ2_ENST00000265346.7_Intron	p.E334E	NM_031449.3	NP_113637.3	Q8NF64	ZMIZ2_HUMAN			8	1125	+			334			Pro-rich.		A4D2K7|D3DVL1|O94790|Q0VGB4|Q659A8|Q6JKL5|Q8WTX8|Q96Q01|Q9BQH7	Silent	SNP	ENST00000309315.4	37	c.1002G>A	CCDS43576.1																																																																																				0.682	ZMIZ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341790.1	NM_031449		13	18	0	0	0	1	0	13	18					A	44799758	G	A	44799758	2	1	435	1	0	0	0	0	0	0	0	1	17694	962	34	3		3	ZMIZ2	7	44799758	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	3099	44799758	114338905	3567	24492											
ZMIZ2	83637	broad.mit.edu	37	chr7	44800044	44800044	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctacccgttccatcccgggCtatcccagttccccactgcc	5	9	6	21	2	0	0	0	0	0	0	4	0	4	0	8	1	2	3	8	1	2	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:44800044C>T	ENST00000309315.4	+	9	1215	c.1092C>T	c.(1090-1092)ggC>ggT	p.G364G	ZMIZ2_ENST00000441627.1_Silent_p.G364G|ZMIZ2_ENST00000265346.7_Silent_p.G338G|ZMIZ2_ENST00000433667.1_Silent_p.G332G|ZMIZ2_ENST00000413916.1_Silent_p.G306G	NM_031449.3	NP_113637.3	Q8NF64	ZMIZ2_HUMAN	zinc finger, MIZ-type containing 2	364	Pro-rich.				positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	mitochondrion (GO:0005739)|nuclear replication fork (GO:0043596)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|zinc ion binding (GO:0008270)			breast(3)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						CCATCCCGGGCTATCCCAGTT	0.597																																					NSCLC(20;604 852 1948 16908 50522)	ENST00000309315.4																			0				breast(3)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						c.(1090-1092)ggC>ggT		zinc finger, MIZ-type containing 2							117	131	126					7																	44800044		2113	4239	6352	SO:0001819	synonymous_variant	83637				positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear replication fork	ligand-dependent nuclear receptor transcription coactivator activity|protein binding|zinc ion binding	g.chr7:44800044C>T	AK090415	CCDS43576.1, CCDS43577.1, CCDS75591.1	7p13	2009-11-06			ENSG00000122515	ENSG00000122515		"Zinc fingers, MIZ-type"	22229	protein-coding gene	gene with protein product		611196					Standard	XM_005249866		Approved	KIAA1886, hZIMP7, ZIMP7, DKFZp761I2123, NET27	uc003tlr.3	Q8NF64	OTTHUMG00000155817	ENST00000309315.4:c.1092C>T	7.37:g.44800044C>T						ZMIZ2_ENST00000433667.1_Silent_p.G332G|ZMIZ2_ENST00000441627.1_Silent_p.G364G|ZMIZ2_ENST00000413916.1_Silent_p.G306G|ZMIZ2_ENST00000265346.7_Silent_p.G338G	p.G364G	NM_031449.3	NP_113637.3	Q8NF64	ZMIZ2_HUMAN			9	1215	+			364			Pro-rich.		A4D2K7|D3DVL1|O94790|Q0VGB4|Q659A8|Q6JKL5|Q8WTX8|Q96Q01|Q9BQH7	Silent	SNP	ENST00000309315.4	37	c.1092C>T	CCDS43576.1																																																																																				0.597	ZMIZ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341790.1	NM_031449		10	24	0	0	0	1	0	10	24					T	44800044	C	T	44800044	2	4	435	1	0	0	0	0	0	0	0	1	17694	784	28	3		3	ZMIZ2	7	44800044	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	286	44800044	114338619	3568	24493											
CCM2	83605	broad.mit.edu	37	chr7	45077977	45077977	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgttgtcattgcctgagcgCgtcgagccagacagactgct	7	10	13	11	3	1	3	1	1	0	2	2	4	1	3	2	0	4	2	2	0	0	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:45077977C>T	ENST00000258781.6	+	2	305	c.156C>T	c.(154-156)cgC>cgT	p.R52R	CCM2_ENST00000544363.1_Silent_p.R52R|CCM2_ENST00000381112.3_Silent_p.R73R|CCM2_ENST00000461377.1_3'UTR|CCM2_ENST00000541586.1_Intron|CCM2_ENST00000475551.1_Silent_p.R46R|CCM2_ENST00000474617.1_Silent_p.R46R	NM_031443.3	NP_113631.1	Q9BSQ5	CCM2_HUMAN	cerebral cavernous malformation 2	52					blood vessel endothelial cell differentiation (GO:0060837)|cell-cell junction organization (GO:0045216)|endothelial cell development (GO:0001885)|endothelial tube morphogenesis (GO:0061154)|in utero embryonic development (GO:0001701)|inner ear development (GO:0048839)|integrin-mediated signaling pathway (GO:0007229)|multicellular organism growth (GO:0035264)|pericardium development (GO:0060039)|stress-activated MAPK cascade (GO:0051403)|vasculogenesis (GO:0001570)|venous blood vessel morphogenesis (GO:0048845)	cytoplasm (GO:0005737)|protein complex (GO:0043234)				NS(1)|endometrium(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19						TGCCTGAGCGCGTCGAGCCAG	0.517																																						ENST00000475551.1																			0				NS(1)|endometrium(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19						c.(136-138)cgC>cgT		cerebral cavernous malformation 2							123	113	116					7																	45077977		2203	4300	6503	SO:0001819	synonymous_variant	83605				endothelial tube morphogenesis|integrin-mediated signaling pathway|stress-activated MAPK cascade|vasculogenesis	cytoplasm	protein binding	g.chr7:45077977C>T	BC004903	CCDS5500.1, CCDS34630.1, CCDS55108.1, CCDS55109.1	7p13	2014-09-17	2004-02-13	2004-02-18	ENSG00000136280	ENSG00000136280			21708	protein-coding gene	gene with protein product	"malcavernin"	607929	"chromosome 7 open reading frame 22"	C7orf22		9811928	Standard	NM_001029835		Approved	MGC4607	uc003tms.3	Q9BSQ5	OTTHUMG00000129246	ENST00000258781.6:c.156C>T	7.37:g.45077977C>T						CCM2_ENST00000258781.6_Silent_p.R52R|CCM2_ENST00000544363.1_Silent_p.R52R|CCM2_ENST00000541586.1_Intron|CCM2_ENST00000474617.1_Silent_p.R46R|CCM2_ENST00000381112.3_Silent_p.R73R|CCM2_ENST00000461377.1_3'UTR	p.R46R			Q9BSQ5	CCM2_HUMAN			2	898	+			52					A4D2L4|B3KUV0|D3DVL4|E9PDJ3|F5H0E1|F5H551|Q71RE5|Q8TAT4	Silent	SNP	ENST00000258781.6	37	c.138C>T	CCDS5500.1																																																																																				0.517	CCM2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000251348.1	NM_031443		18	23	0	0	0	1	0	18	23					T	45077977	C	T	45077977	2	4	435	1	0	0	0	0	0	0	0	1	2908	755	27	1		1	CCM2	7	45077977	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	277933	45077977	114060686	3569	24494											
RAMP3	10268	broad.mit.edu	37	chr7	45216944	45216944	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	aggcggctgcaacgagacagGcatgttggagaggctgcccc	9	5	16	11	2	0	2	0	0	0	2	0	4	0	2	2	5	3	5	2	5	1	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:45216944G>A	ENST00000242249.4	+	2	133	c.95G>A	c.(94-96)gGc>gAc	p.G32D	RAMP3_ENST00000481345.1_Missense_Mutation_p.G32D|RAMP3_ENST00000496212.1_Missense_Mutation_p.G32D	NM_005856.2	NP_005847.1	O60896	RAMP3_HUMAN	receptor (G protein-coupled) activity modifying protein 3	32					calcium ion transport (GO:0006816)|cellular response to estradiol stimulus (GO:0071392)|G-protein coupled receptor signaling pathway involved in heart process (GO:0086103)|intracellular protein transport (GO:0006886)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of receptor recycling (GO:0001921)|protein localization to plasma membrane (GO:0072659)|protein transport (GO:0015031)|receptor internalization (GO:0031623)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	coreceptor activity (GO:0015026)|protein transporter activity (GO:0008565)|receptor activity (GO:0004872)			breast(1)|endometrium(1)|large_intestine(4)|lung(4)|stomach(1)	11					Pramlintide(DB01278)	AACGAGACAGGCATGTTGGAG	0.587																																						ENST00000242249.4																			0				breast(1)|endometrium(1)|large_intestine(4)|lung(4)|stomach(1)	11						c.(94-96)gGc>gAc		receptor (G protein-coupled) activity modifying protein 3	Pramlintide(DB01278)						155	123	134					7																	45216944		2203	4300	6503	SO:0001583	missense	10268				intracellular protein transport|receptor-mediated endocytosis|regulation of G-protein coupled receptor protein signaling pathway	integral to plasma membrane|lysosome	protein transporter activity	g.chr7:45216944G>A	AJ001016	CCDS5503.1	7p13-p12	2006-11-21	2006-11-21		ENSG00000122679	ENSG00000122679		"Receptor (G protein-coupled) activity modifying proteins"	9845	protein-coding gene	gene with protein product		605155	"receptor activity modifying protein 3", "receptor (calcitonin) activity modifying protein 3"				Standard	NM_005856		Approved		uc003tnb.3	O60896	OTTHUMG00000023729	ENST00000242249.4:c.95G>A	7.37:g.45216944G>A	ENSP00000242249:p.Gly32Asp					RAMP3_ENST00000481345.1_Missense_Mutation_p.G32D|RAMP3_ENST00000496212.1_Missense_Mutation_p.G32D	p.G32D	NM_005856.2	NP_005847.1	O60896	RAMP3_HUMAN			2	133	+			32					Q7Z2Y1	Missense_Mutation	SNP	ENST00000242249.4	37	c.95G>A	CCDS5503.1	.	.	.	.	.	.	.	.	.	.	G	2.667	-0.278447	0.05679	.	.	ENSG00000122679	ENST00000242249;ENST00000481345;ENST00000496212	T;T;T	0.22134	1.98;1.98;1.97	4.24	3.25	0.37280	.	0.381374	0.27147	N	0.020703	T	0.10252	0.0251	L	0.29908	0.895	0.09310	N	1	P	0.35363	0.497	B	0.25614	0.062	T	0.19910	-1.0291	10	0.11485	T	0.65	-10.0717	7.7181	0.28717	0.0:0.0:0.6728:0.3272	.	32	O60896	RAMP3_HUMAN	D	32	ENSP00000242249:G32D;ENSP00000419012:G32D;ENSP00000418460:G32D	ENSP00000242249:G32D	G	+	2	0	RAMP3	45183469	0.832000	0.29368	0.069000	0.20011	0.005000	0.04900	1.593000	0.36686	1.906000	0.55180	0.561000	0.74099	GGC		0.587	RAMP3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000251343.1	NM_005856		8	21	0	0	0	1	0	8	21					A	45216944	G	A	45216944	3	1	435	1	0	0	0	0	1	0	0	0	13023	1203	42	3	101	3	RAMP3	7	45216944	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	138967	45216944	113921719	3570	24495											
IGFBP1	3484	broad.mit.edu	37	chr7	45932601	45932601	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggcgggactctgctggtgcGtctacccttggaatgggaag	7	9	16	9	2	2	0	0	0	2	0	2	3	2	3	1	5	3	1	1	5	3	2	rs370766303		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:45932601G>A	ENST00000275525.3	+	4	987	c.691G>A	c.(691-693)Gtc>Atc	p.V231I	IGFBP1_ENST00000457280.1_Missense_Mutation_p.V229I|IGFBP1_ENST00000468955.1_Missense_Mutation_p.V188I	NM_000596.2	NP_000587.1	P08833	IBP1_HUMAN	insulin-like growth factor binding protein 1	231	Thyroglobulin type-1. {ECO:0000255|PROSITE-ProRule:PRU00500}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|insulin receptor signaling pathway (GO:0008286)|positive regulation of cell growth (GO:0030307)|signal transduction (GO:0007165)|tissue regeneration (GO:0042246)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	insulin-like growth factor binding (GO:0005520)			large_intestine(2)|lung(4)	6						CTGCTGGTGCGTCTACCCTTG	0.498																																						ENST00000275525.3																			0				large_intestine(2)|lung(4)	6						c.(691-693)Gtc>Atc		insulin-like growth factor binding protein 1		G	ILE/VAL	0,4406		0,0,2203	82	77	79		691	5.7	1	7		79	2,8598	1.2+/-3.3	0,2,4298	no	missense	IGFBP1	NM_000596.2	29	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	probably-damaging	231/260	45932601	2,13004	2203	4300	6503	SO:0001583	missense	3484					extracellular space	insulin-like growth factor binding	g.chr7:45932601G>A		CCDS5504.1	7p12.3	2014-09-16			ENSG00000146678	ENSG00000146678			5469	protein-coding gene	gene with protein product	"placental protein 12", "amniotic fluid binding protein", "alpha-pregnancy-associated endometrial globulin", "growth hormone independent-binding protein", "binding protein-28", "binding protein-26", "binding protein-25", "IGF-binding protein 1"	146730		IBP1		2461294	Standard	NM_000596		Approved	IGF-BP25, AFBP, hIGFBP-1, PP12	uc003tnp.3	P08833	OTTHUMG00000152343	ENST00000275525.3:c.691G>A	7.37:g.45932601G>A	ENSP00000275525:p.Val231Ile					IGFBP1_ENST00000468955.1_Missense_Mutation_p.V188I|IGFBP1_ENST00000457280.1_Missense_Mutation_p.V229I	p.V231I	NM_000596.2	NP_000587.1	P08833	IBP1_HUMAN			4	987	+			231			Thyroglobulin type-1.		A4D2F4|D3DVL9|Q8IYP5	Missense_Mutation	SNP	ENST00000275525.3	37	c.691G>A	CCDS5504.1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.445195	0.83993	0.0	2.33E-4	ENSG00000146678	ENST00000275525;ENST00000457280;ENST00000468955	T;T;T	0.79352	-1.26;-1.26;-1.26	5.74	5.74	0.90152	Thyroglobulin type-1 (6);	0.000000	0.85682	D	0.000000	D	0.90703	0.7083	M	0.90870	3.155	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.998;0.999;0.998	D	0.92266	0.5821	10	0.87932	D	0	-39.8399	17.3914	0.87432	0.0:0.0:1.0:0.0	.	188;231;229	C9J6H2;P08833;C9JXF9	.;IBP1_HUMAN;.	I	231;229;188	ENSP00000275525:V231I;ENSP00000413511:V229I;ENSP00000417069:V188I	ENSP00000275525:V231I	V	+	1	0	IGFBP1	45899126	1.000000	0.71417	0.987000	0.45799	0.469000	0.32828	8.101000	0.89546	2.710000	0.92621	0.591000	0.81541	GTC		0.498	IGFBP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251355.2	NM_000596		21	30	0	0	0	1	0	21	30					A	45932601	G	A	45932601	3	1	435	1	0	0	0	0	1	0	0	0	7578	1145	40	1	705	1	IGFBP1	7	45932601	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	715657	45932601	113206062	3571	24496											
TNS3	64759	broad.mit.edu	37	chr7	47344500	47344500	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aaaagcctgctgaaaggaggGcgtcgaggacgcatcagccc	12	4	14	11	3	1	1	1	1	0	0	2	4	1	3	2	3	3	2	2	3	3	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:47344500G>C	ENST00000398879.1	-	21	3118	c.2752C>G	c.(2752-2754)Ccc>Gcc	p.P918A	TNS3_ENST00000355730.3_Missense_Mutation_p.P678A|TNS3_ENST00000311160.9_Missense_Mutation_p.P918A			Q68CZ2	TENS3_HUMAN	tensin 3	918					cell migration (GO:0016477)|lung alveolus development (GO:0048286)|positive regulation of cell proliferation (GO:0008284)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)				NS(1)|autonomic_ganglia(1)|breast(17)|endometrium(5)|kidney(4)|large_intestine(7)|liver(1)|lung(16)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	64						TGAAAGGAGGGCGTCGAGGAC	0.572																																						ENST00000398879.1																			0				NS(1)|autonomic_ganglia(1)|breast(17)|endometrium(5)|kidney(4)|large_intestine(7)|liver(1)|lung(16)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	64						c.(2752-2754)Ccc>Gcc		tensin 3							69	78	75					7																	47344500		2116	4248	6364	SO:0001583	missense	64759					focal adhesion	protein binding	g.chr7:47344500G>C	AF378756	CCDS5506.2	7p12.3	2013-02-14	2005-05-13	2005-05-13	ENSG00000136205	ENSG00000136205		"SH2 domain containing"	21616	protein-coding gene	gene with protein product	"tumor endothelial marker 6"	606825	"tensin-like SH2 domain-containing 1"	TENS1		11559528	Standard	NM_022748		Approved	TEM6, H_NH0549I23.2, FLJ13732	uc003tnw.3	Q68CZ2	OTTHUMG00000074075	ENST00000398879.1:c.2752C>G	7.37:g.47344500G>C	ENSP00000381854:p.Pro918Ala					TNS3_ENST00000311160.9_Missense_Mutation_p.P918A|TNS3_ENST00000355730.3_Missense_Mutation_p.P678A	p.P918A			Q68CZ2	TENS3_HUMAN			21	3118	-			918					B2RNV1|Q6IPQ2|Q8IZW7|Q8NAD0|Q96PE0|Q96S48	Missense_Mutation	SNP	ENST00000398879.1	37	c.2752C>G	CCDS5506.2	.	.	.	.	.	.	.	.	.	.	G	3.072	-0.190979	0.06299	.	.	ENSG00000136205	ENST00000311160;ENST00000538633;ENST00000398879;ENST00000355730;ENST00000545849;ENST00000457718	D;D;D;D	0.93712	-2.81;-2.81;-3.27;-2.97	5.7	1.77	0.24775	.	0.390514	0.26227	N	0.025589	D	0.84897	0.5574	L	0.36672	1.1	0.25087	N	0.990889	P	0.34864	0.473	B	0.28553	0.091	T	0.75986	-0.3124	10	0.49607	T	0.09	-13.1487	2.5985	0.04860	0.1631:0.1465:0.5391:0.1514	.	918	Q68CZ2	TENS3_HUMAN	A	918;1028;918;678;374;1021	ENSP00000312143:P918A;ENSP00000381854:P918A;ENSP00000347968:P678A;ENSP00000414358:P1021A	ENSP00000312143:P918A	P	-	1	0	TNS3	47311025	0.992000	0.36948	0.005000	0.12908	0.002000	0.02628	2.265000	0.43311	0.042000	0.15717	-0.895000	0.02911	CCC		0.572	TNS3-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157253.1	NM_022748		7	14	0	0	0	1	0	7	14					C	47344500	G	C	47344500	3	2	435	1	0	0	0	0	1	0	0	0	16341	1203	42	5	1629	5	TNS3	7	47344500	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	1411899	47344500	111794163	3572	24497											
PKD1L1	168507	broad.mit.edu	37	chr7	47835606	47835606	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtgattctcaaccatctcaGcctcttccaactttggtgtt	7	15	6	13	1	3	1	2	1	3	0	6	1	4	1	3	1	3	1	3	1	2	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:47835606G>A	ENST00000289672.2	-	55	8386	c.8336C>T	c.(8335-8337)gCt>gTt	p.A2779V	C7orf69_ENST00000258776.4_Intron|C7orf69_ENST00000418326.2_Intron	NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	2779					detection of mechanical stimulus (GO:0050982)|detection of nodal flow (GO:0003127)|left/right axis specification (GO:0070986)|single organismal cell-cell adhesion (GO:0016337)	calcium channel complex (GO:0034704)|cilium (GO:0005929)|membrane (GO:0016020)|nonmotile primary cilium (GO:0031513)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)		BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						AACCATCTCAGCCTCTTCCAA	0.398																																						ENST00000289672.2																		BBS9/PKD1L1(2)	0				NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						c.(8335-8337)gCt>gTt		polycystic kidney disease 1 like 1							196	181	186					7																	47835606		2203	4300	6503	SO:0001583	missense	168507				cell-cell adhesion	integral to membrane		g.chr7:47835606G>A	AB061683	CCDS34633.1	7p12.3	2008-07-18			ENSG00000158683	ENSG00000158683			18053	protein-coding gene	gene with protein product	"polycystin-1L1"	609721				11863367	Standard	NM_138295		Approved	PRO19563	uc003tny.2	Q8TDX9	OTTHUMG00000155649	ENST00000289672.2:c.8336C>T	7.37:g.47835606G>A	ENSP00000289672:p.Ala2779Val					C7orf69_ENST00000258776.4_Intron|C7orf69_ENST00000418326.2_Intron	p.A2779V	NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN			55	8386	-			2779					Q6UWK1	Missense_Mutation	SNP	ENST00000289672.2	37	c.8336C>T	CCDS34633.1	.	.	.	.	.	.	.	.	.	.	G	9.918	1.211362	0.22289	.	.	ENSG00000158683	ENST00000289672	T	0.18960	2.18	5.42	-0.134	0.13481	.	2.109790	0.02921	U	0.138002	T	0.13927	0.0337	N	0.19112	0.55	0.09310	N	1	B	0.19331	0.035	B	0.14023	0.01	T	0.24548	-1.0157	10	0.37606	T	0.19	-1.86	5.3627	0.16098	0.2626:0.2142:0.5232:0.0	.	2779	Q8TDX9	PK1L1_HUMAN	V	2779	ENSP00000289672:A2779V	ENSP00000289672:A2779V	A	-	2	0	PKD1L1	47802131	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.257000	0.08745	0.259000	0.21709	-0.145000	0.13849	GCT		0.398	PKD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340974.1	NM_138295		11	61	0	0	0	1	0	11	61					A	47835606	G	A	47835606	3	1	435	1	0	0	0	0	1	0	0	0	11964	971	34	3	225	3	PKD1L1	7	47835606	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	491106	47835606	111303057	3573	24498											
PKD1L1	168507	broad.mit.edu	37	chr7	47955158	47955158	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctgcttctttgtaggtggAcatatccaactgaaaatgta	11	14	8	8	0	2	1	0	1	2	0	3	2	3	2	1	2	2	3	1	2	6	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:47955158A>G	ENST00000289672.2	-	8	1149	c.1099T>C	c.(1099-1101)Tcc>Ccc	p.S367P		NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	367					detection of mechanical stimulus (GO:0050982)|detection of nodal flow (GO:0003127)|left/right axis specification (GO:0070986)|single organismal cell-cell adhesion (GO:0016337)	calcium channel complex (GO:0034704)|cilium (GO:0005929)|membrane (GO:0016020)|nonmotile primary cilium (GO:0031513)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)	p.S367P(1)	BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						TTGTAGGTGGACATAtccaac	0.333																																						ENST00000289672.2																		BBS9/PKD1L1(2)	1	Substitution - Missense(1)	p.S367P(1)	large_intestine(1)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						c.(1099-1101)Tcc>Ccc		polycystic kidney disease 1 like 1							94	90	91					7																	47955158		2203	4300	6503	SO:0001583	missense	168507				cell-cell adhesion	integral to membrane		g.chr7:47955158A>G	AB061683	CCDS34633.1	7p12.3	2008-07-18			ENSG00000158683	ENSG00000158683			18053	protein-coding gene	gene with protein product	"polycystin-1L1"	609721				11863367	Standard	NM_138295		Approved	PRO19563	uc003tny.2	Q8TDX9	OTTHUMG00000155649	ENST00000289672.2:c.1099T>C	7.37:g.47955158A>G	ENSP00000289672:p.Ser367Pro						p.S367P	NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN			8	1149	-			367					Q6UWK1	Missense_Mutation	SNP	ENST00000289672.2	37	c.1099T>C	CCDS34633.1	.	.	.	.	.	.	.	.	.	.	A	0.740	-0.776807	0.02929	.	.	ENSG00000158683	ENST00000289672	T	0.23950	1.88	0.391	0.391	0.16282	.	28.248200	0.00447	U	0.000084	T	0.10294	0.0252	N	0.08118	0	0.09310	N	1	P	0.42993	0.797	B	0.25884	0.064	T	0.20538	-1.0272	9	0.32370	T	0.25	.	.	.	.	.	367	Q8TDX9	PK1L1_HUMAN	P	367	ENSP00000289672:S367P	ENSP00000289672:S367P	S	-	1	0	PKD1L1	47921683	0.004000	0.15560	0.003000	0.11579	0.003000	0.03518	0.349000	0.20055	0.383000	0.24910	0.378000	0.23410	TCC		0.333	PKD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340974.1	NM_138295		10	44	0	0	0	1	0	10	44					G	47955158	A	G	47955158	3	3	435	1	0	0	0	0	1	0	0	0	11964	275	10	4	7650	4	PKD1L1	7	47955158	Missense_Mutation	SNP	A	TCGA-XK-AAIW-01A-11D-A41K-08	119552	47955158	111183505	3574	24499											
PKD1L1	168507	broad.mit.edu	37	chr7	47955197	47955197	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	taaaagatgaaaaaaaatacCtataaaagcaaaaagaagaa	28	5	5	3	0	0	4	0	1	0	3	0	4	0	4	1	0	2	1	1	0	14	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:47955197C>A	ENST00000289672.2	-	8	1111		c.e8-1			NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1						detection of mechanical stimulus (GO:0050982)|detection of nodal flow (GO:0003127)|left/right axis specification (GO:0070986)|single organismal cell-cell adhesion (GO:0016337)	calcium channel complex (GO:0034704)|cilium (GO:0005929)|membrane (GO:0016020)|nonmotile primary cilium (GO:0031513)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)		BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						aaaaaaatacctataaaagca	0.274																																						ENST00000289672.2																		BBS9/PKD1L1(2)	0				NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						c.e8-1		polycystic kidney disease 1 like 1							39	39	39					7																	47955197		2203	4300	6503	SO:0001630	splice_region_variant	168507				cell-cell adhesion	integral to membrane		g.chr7:47955197C>A	AB061683	CCDS34633.1	7p12.3	2008-07-18			ENSG00000158683	ENSG00000158683			18053	protein-coding gene	gene with protein product	"polycystin-1L1"	609721				11863367	Standard	NM_138295		Approved	PRO19563	uc003tny.2	Q8TDX9	OTTHUMG00000155649	ENST00000289672.2:c.1061-1G>T	7.37:g.47955197C>A								NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN			8	1111	-								Q6UWK1	Splice_Site	SNP	ENST00000289672.2	37		CCDS34633.1																																																																																				0.274	PKD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340974.1	NM_138295	Intron	7	18	1	0	5.18039e-06	1	5.37127e-06	7	18					A	47955197	C	A	47955197	5	1	435	1	0	0	0	0	0	0	1	0	11964	695	24	5	7689	5	PKD1L1	7	47955197	Splice_Site	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	39	47955197	111183466	3575	24500											
PKD1L1	168507	broad.mit.edu	37	chr7	47988033	47988033	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgttctgggctgcctcctcgGccatgtcctgtgcaagctgg	3	12	13	13	1	1	0	0	0	1	0	4	0	3	0	4	3	3	4	4	3	1	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:47988033G>A	ENST00000289672.2	-	1	55	c.5C>T	c.(4-6)gCc>gTc	p.A2V		NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	2					detection of mechanical stimulus (GO:0050982)|detection of nodal flow (GO:0003127)|left/right axis specification (GO:0070986)|single organismal cell-cell adhesion (GO:0016337)	calcium channel complex (GO:0034704)|cilium (GO:0005929)|membrane (GO:0016020)|nonmotile primary cilium (GO:0031513)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)		BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						TGCCTCCTCGGCCATGTCCTG	0.453																																						ENST00000289672.2																		BBS9/PKD1L1(2)	0				NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						c.(4-6)gCc>gTc		polycystic kidney disease 1 like 1							96	91	92					7																	47988033		2203	4300	6503	SO:0001583	missense	168507				cell-cell adhesion	integral to membrane		g.chr7:47988033G>A	AB061683	CCDS34633.1	7p12.3	2008-07-18			ENSG00000158683	ENSG00000158683			18053	protein-coding gene	gene with protein product	"polycystin-1L1"	609721				11863367	Standard	NM_138295		Approved	PRO19563	uc003tny.2	Q8TDX9	OTTHUMG00000155649	ENST00000289672.2:c.5C>T	7.37:g.47988033G>A	ENSP00000289672:p.Ala2Val						p.A2V	NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN			1	55	-			2					Q6UWK1	Missense_Mutation	SNP	ENST00000289672.2	37	c.5C>T	CCDS34633.1	.	.	.	.	.	.	.	.	.	.	G	9.026	0.986036	0.18889	.	.	ENSG00000158683	ENST00000289672	T	0.23552	1.9	2.32	0.292	0.15737	.	.	.	.	.	T	0.11024	0.0269	N	0.08118	0	0.09310	N	1	B	0.15719	0.014	B	0.08055	0.003	T	0.25222	-1.0138	9	0.46703	T	0.11	-1.8593	3.7727	0.08647	0.1584:0.2527:0.5888:0.0	.	2	Q8TDX9	PK1L1_HUMAN	V	2	ENSP00000289672:A2V	ENSP00000289672:A2V	A	-	2	0	PKD1L1	47954558	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-0.347000	0.07750	0.053000	0.16036	0.467000	0.42956	GCC		0.453	PKD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340974.1	NM_138295		19	23	0	0	0	1	0	19	23					A	47988033	G	A	47988033	3	1	435	1	0	0	0	0	1	0	0	0	11964	1203	42	3	8772	3	PKD1L1	7	47988033	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	32836	47988033	111150630	3576	24501											
C7orf57	136288	broad.mit.edu	37	chr7	48086204	48086205	+	Frame_Shift_Ins	INS	-	-	A																															ctgaggaacttgaaaaggagINSaaaaaaaaggtgacgggagc																										TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:48086204_48086205insA	ENST00000348904.3	+	5	710_711	c.498_499insA	c.(499-501)aaafs	p.K167fs	C7orf57_ENST00000539619.1_Frame_Shift_Ins_p.K167fs|C7orf57_ENST00000430738.1_Frame_Shift_Ins_p.K212fs|C7orf57_ENST00000420324.1_Frame_Shift_Ins_p.K212fs|C7orf57_ENST00000435376.1_Frame_Shift_Ins_p.K45fs	NM_001100159.2	NP_001093629.1	Q8NEG2	CG057_HUMAN	chromosome 7 open reading frame 57	167										breast(1)|endometrium(2)|large_intestine(1)|lung(4)|ovary(1)	9						TTGAAAAGGAGAAAAAAAAGGT	0.495																																						ENST00000348904.3																			0				breast(1)|endometrium(2)|large_intestine(1)|lung(4)|ovary(1)	9						c.(496-501)gaaaaafs		chromosome 7 open reading frame 57																																				SO:0001589	frameshift_variant	136288							g.chr7:48086204_48086205insA	BC031107	CCDS47583.1, CCDS59054.1, CCDS75594.1	7p12.3	2011-11-25			ENSG00000164746	ENSG00000164746			22247	protein-coding gene	gene with protein product							Standard	NM_001100159		Approved		uc003toh.5	Q8NEG2	OTTHUMG00000155808	ENST00000348904.3:c.506dupA	7.37:g.48086212_48086212dupA	ENSP00000335500:p.Lys167fs					C7orf57_ENST00000435376.1_Frame_Shift_Ins_p.EK44fs|C7orf57_ENST00000430738.1_Frame_Shift_Ins_p.EK211fs|C7orf57_ENST00000539619.1_Frame_Shift_Ins_p.EK166fs|C7orf57_ENST00000420324.1_Frame_Shift_Ins_p.EK211fs	p.EK166fs	NM_001100159.2	NP_001093629.1	Q8NEG2	CG057_HUMAN			5	710_711	+			166					C9JBJ8	Frame_Shift_Ins	INS	ENST00000348904.3	37	c.498_499insA	CCDS47583.1																																																																																				0.495	C7orf57-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341745.1	NM_001100159		6	8						6	8	---	---	---	---	A	48086205	-	A	48086204	7	5	435	1	0	1	1	0	0	0	0	0	2404	933	33	0	512	0	C7orf57	7	48086204	Frame_Shift_Ins	INS	-	TCGA-XK-AAIW-01A-11D-A41K-08	98171	48086204	111052459	3577	24502											
UPP1	7378	broad.mit.edu	37	chr7	48147888	48147888	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agccctcgcaatgtgctcagCgagtaccagcagaggccgca	10	5	12	14	3	1	1	1	0	0	1	2	2	1	1	3	1	5	5	3	1	2	1	rs2230763	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:48147888C>T	ENST00000331803.4	+	10	1490	c.867C>T	c.(865-867)agC>agT	p.S289S	UPP1_ENST00000395564.4_Silent_p.S289S|UPP1_ENST00000429491.2_Silent_p.S152S|UPP1_ENST00000341253.4_Silent_p.S289S|UPP1_ENST00000482015.1_3'UTR			Q16831	UPP1_HUMAN	uridine phosphorylase 1	289					cellular response to glucose starvation (GO:0042149)|nucleobase-containing compound metabolic process (GO:0006139)|nucleobase-containing small molecule metabolic process (GO:0055086)|nucleotide catabolic process (GO:0009166)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|pyrimidine nucleoside salvage (GO:0043097)|small molecule metabolic process (GO:0044281)|UMP salvage (GO:0044206)|uridine metabolic process (GO:0046108)	cytosol (GO:0005829)	uridine phosphorylase activity (GO:0004850)			breast(1)|endometrium(2)|large_intestine(1)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	18					Fluorouracil(DB00544)	ATGTGCTCAGCGAGTACCAGC	0.602													C|||	6	0.00119808	0.0045	0	5008	,	,		17698	0		0	False		,,,				2504	0					ENST00000331803.4																			0				breast(1)|endometrium(2)|large_intestine(1)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	18						c.(865-867)agC>agT		uridine phosphorylase 1		C	,	9,4397	15.5+/-35.6	0,9,2194	73	72	72		867,867	-8.2	0	7	dbSNP_98	72	1,8599		0,1,4299	no	coding-synonymous,coding-synonymous	UPP1	NM_003364.2,NM_181597.1	,	0,10,6493	TT,TC,CC		0.0116,0.2043,0.0769	,	289/311,289/311	48147888	10,12996	2203	4300	6503	SO:0001819	synonymous_variant	7378				nucleotide catabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process|pyrimidine nucleoside salvage	cytosol	uridine phosphorylase activity	g.chr7:48147888C>T	AK096167	CCDS5507.1	7p12.3	2012-10-02	2003-08-28	2003-08-29	ENSG00000183696	ENSG00000183696	2.4.2.3		12576	protein-coding gene	gene with protein product		191730	"uridine phosphorylase"	UP		752472, 11807789	Standard	NM_003364		Approved	UPASE, UPP, UDRPASE	uc003toj.3	Q16831	OTTHUMG00000129253	ENST00000331803.4:c.867C>T	7.37:g.48147888C>T						UPP1_ENST00000341253.4_Silent_p.S289S|UPP1_ENST00000395564.4_Silent_p.S289S|UPP1_ENST00000482015.1_3'UTR|UPP1_ENST00000429491.2_Silent_p.S152S	p.S289S			Q16831	UPP1_HUMAN			10	1490	+			289					D3DVM4|Q15362	Silent	SNP	ENST00000331803.4	37	c.867C>T	CCDS5507.1																																																																																				0.602	UPP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251360.1	NM_003364		18	24	0	0	0	1	0	18	24					T	48147888	C	T	48147888	2	4	435	1	0	0	0	0	0	0	0	1	17009	767	27	1		1	UPP1	7	48147888	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	61684	48147888	110990775	3578	24503											
ABCA13	154664	broad.mit.edu	37	chr7	48314266	48314266	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaaggtaacttctgtcatgcGtacccttaagaaggcagaca	13	9	10	9	1	2	2	1	0	1	2	2	3	2	2	1	2	3	3	1	2	5	4	rs566240276		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:48314266G>A	ENST00000435803.1	+	17	5027	c.5003G>A	c.(5002-5004)cGt>cAt	p.R1668H		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	1668					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)	p.R1668H(1)|p.R1613H(1)		breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						TCTGTCATGCGTACCCTTAAG	0.388													G|||	1	0.000199681	0	0	5008	,	,		22705	0		0.001	False		,,,				2504	0					ENST00000435803.1																			2	Substitution - Missense(2)	p.R1668H(1)|p.R1613H(1)	endometrium(2)	breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						c.(5002-5004)cGt>cAt		ATP-binding cassette, sub-family A (ABC1), member 13							160	152	155					7																	48314266		1911	4117	6028	SO:0001583	missense	154664				transport	integral to membrane	ATP binding|ATPase activity	g.chr7:48314266G>A	AY204751	CCDS47584.1	7p12.3	2012-03-14			ENSG00000179869	ENSG00000179869		"ATP binding cassette transporters / subfamily A"	14638	protein-coding gene	gene with protein product		607807				12697998	Standard	NM_152701		Approved	FLJ33876, FLJ33951	uc003toq.2	Q86UQ4	OTTHUMG00000155840	ENST00000435803.1:c.5003G>A	7.37:g.48314266G>A	ENSP00000411096:p.Arg1668His						p.R1668H	NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN			17	5027	+			1668					K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Missense_Mutation	SNP	ENST00000435803.1	37	c.5003G>A	CCDS47584.1	.	.	.	.	.	.	.	.	.	.	G	0.029	-1.347516	0.01266	.	.	ENSG00000179869	ENST00000435803	D	0.85088	-1.94	5.58	-8.31	0.01001	.	0.872659	0.09787	N	0.755903	T	0.64382	0.2593	N	0.08118	0	0.31851	N	0.622211	B	0.15719	0.014	B	0.08055	0.003	T	0.48068	-0.9067	9	.	.	.	.	12.4639	0.55747	0.7471:0.0:0.1605:0.0924	.	1668	Q86UQ4	ABCAD_HUMAN	H	1668	ENSP00000411096:R1668H	.	R	+	2	0	ABCA13	48284812	0.000000	0.05858	0.000000	0.03702	0.183000	0.23260	-0.393000	0.07305	-1.747000	0.01333	-0.251000	0.11542	CGT		0.388	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341964.2	NM_152701		44	60	0	0	0	1	0	44	60					A	48314266	G	A	48314266	3	1	435	1	0	0	0	0	1	0	0	0	31	1145	40	1	4898	1	ABCA13	7	48314266	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	166378	48314266	110824397	3579	24504											
ABCA13	154664	broad.mit.edu	37	chr7	48619871	48619871	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcaggcgtgctcattggctaCtgtccccagcaggatgccct	6	9	12	14	1	1	0	1	0	0	0	2	1	2	1	3	3	4	4	3	3	1	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:48619871C>A	ENST00000435803.1	+	56	14430	c.14406C>A	c.(14404-14406)taC>taA	p.Y4802*	ABCA13_ENST00000544596.1_Nonsense_Mutation_p.Y532*	NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	4802	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						TCATTGGCTACTGTCCCCAGC	0.567																																						ENST00000435803.1																			0				breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						c.(14404-14406)taC>taA		ATP-binding cassette, sub-family A (ABC1), member 13							29	32	31					7																	48619871		1962	4153	6115	SO:0001587	stop_gained	154664				transport	integral to membrane	ATP binding|ATPase activity	g.chr7:48619871C>A	AY204751	CCDS47584.1	7p12.3	2012-03-14			ENSG00000179869	ENSG00000179869		"ATP binding cassette transporters / subfamily A"	14638	protein-coding gene	gene with protein product		607807				12697998	Standard	NM_152701		Approved	FLJ33876, FLJ33951	uc003toq.2	Q86UQ4	OTTHUMG00000155840	ENST00000435803.1:c.14406C>A	7.37:g.48619871C>A	ENSP00000411096:p.Tyr4802*					ABCA13_ENST00000544596.1_Nonsense_Mutation_p.Y532*	p.Y4802*	NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN			56	14430	+			4802			ABC transporter 2.		K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Nonsense_Mutation	SNP	ENST00000435803.1	37	c.14406C>A	CCDS47584.1	.	.	.	.	.	.	.	.	.	.	C	55	23.545656	0.99955	.	.	ENSG00000179869	ENST00000435803;ENST00000411975;ENST00000544596	.	.	.	5.0	4.11	0.48088	.	0.000000	0.42964	D	0.000624	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	8.3387	0.32230	0.0:0.8943:0.0:0.1057	.	.	.	.	X	4802;575;532	.	ENSP00000391042:Y575X	Y	+	3	2	ABCA13	48590417	1.000000	0.71417	1.000000	0.80357	0.474000	0.32979	2.030000	0.41108	2.318000	0.78349	0.637000	0.83480	TAC		0.567	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341964.2	NM_152701		11	8	1	0	2.80697e-09	1	2.97546e-09	11	8					A	48619871	C	A	48619871	4	1	435	1	0	0	0	0	0	1	0	0	31	576	20	5	14457	5	ABCA13	7	48619871	Nonsense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	305605	48619871	110518792	3580	24505											
IKZF1	10320	broad.mit.edu	37	chr7	50467923	50467923	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagttggtgccctcggagcgCgaggcgtccccgagcaacag	8	5	15	13	5	0	0	0	0	0	0	2	3	1	1	3	3	4	2	3	3	2	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:50467923C>T	ENST00000331340.3	+	8	1313	c.1158C>T	c.(1156-1158)cgC>cgT	p.R386R	IKZF1_ENST00000438033.1_Silent_p.R299R|IKZF1_ENST00000343574.5_Silent_p.R299R|IKZF1_ENST00000349824.4_Silent_p.R243R|IKZF1_ENST00000440768.2_3'UTR|IKZF1_ENST00000346667.4_Silent_p.R156R|IKZF1_ENST00000359197.5_Silent_p.R344R|IKZF1_ENST00000439701.1_Silent_p.R344R|IKZF1_ENST00000357364.4_Silent_p.R299R	NM_001220769.1|NM_001220772.1|NM_001220773.1|NM_001220775.1|NM_006060.4	NP_001207698.1|NP_001207701.1|NP_001207702.1|NP_001207704.1|NP_006051.1	Q13422	IKZF1_HUMAN	IKAROS family zinc finger 1 (Ikaros)	386					B cell differentiation (GO:0030183)|cell cycle (GO:0007049)|chromatin modification (GO:0016568)|forebrain development (GO:0030900)|lymph node development (GO:0048535)|mesoderm development (GO:0007498)|natural killer cell differentiation (GO:0001779)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Peyer's patch development (GO:0048541)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of neutrophil differentiation (GO:0045660)|positive regulation of NK T cell differentiation (GO:0051138)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|retina development in camera-type eye (GO:0060041)|T cell differentiation (GO:0030217)|thymus development (GO:0048538)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.?(28)		haematopoietic_and_lymphoid_tissue(275)|lung(1)	276	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;7.29e-10)|all_hematologic(4;4.8e-07)				CCTCGGAGCGCGAGGCGTCCC	0.672			"D,T"	BCL6	"ALL, DLBCL"																																	ENST00000331340.3				"Rec,Dom"	yes		7	7p12.2	10320	"D,T"	IKAROS family zinc finger 1			L	BCL6		"ALL, DLBCL"		28	Unknown(28)	p.?(28)	haematopoietic_and_lymphoid_tissue(28)	haematopoietic_and_lymphoid_tissue(275)|lung(1)	276						c.(1156-1158)cgC>cgT		IKAROS family zinc finger 1 (Ikaros)							18	23	21					7																	50467923		2105	4213	6318	SO:0001819	synonymous_variant	10320				cell cycle|chromatin modification|mesoderm development	cytoplasm|nucleus	zinc ion binding	g.chr7:50467923C>T	U40462	CCDS59055.1, CCDS69299.1, CCDS75596.1, CCDS75597.1	7p12.2	2014-06-12	2006-08-25	2006-08-25	ENSG00000185811	ENSG00000185811		"Zinc fingers, C2H2-type", "IKAROS zinc fingers"	13176	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 92"	603023	"zinc finger protein, subfamily 1A, 1 (Ikaros)"	ZNFN1A1		1439790, 7935426	Standard	NM_006060		Approved	hIk-1, LyF-1, Hs.54452, IKAROS, PPP1R92	uc003tow.4	Q13422	OTTHUMG00000155907	ENST00000331340.3:c.1158C>T	7.37:g.50467923C>T						IKZF1_ENST00000349824.4_Silent_p.R243R|IKZF1_ENST00000359197.5_Silent_p.R344R|IKZF1_ENST00000440768.2_3'UTR|IKZF1_ENST00000357364.4_Silent_p.R299R|IKZF1_ENST00000343574.5_Silent_p.R299R|IKZF1_ENST00000346667.4_Silent_p.R156R|IKZF1_ENST00000439701.1_Silent_p.R344R|IKZF1_ENST00000438033.1_Silent_p.R299R	p.R386R	NM_001220769.1|NM_001220772.1|NM_001220773.1|NM_001220775.1|NM_006060.4	NP_001207698.1|NP_001207701.1|NP_001207702.1|NP_001207704.1|NP_006051.1	Q13422	IKZF1_HUMAN			8	1313	+	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;7.29e-10)|all_hematologic(4;4.8e-07)	386					A4D260|B4E0Z1|D3DVM5|O00598|Q53XL2|Q69BM4|Q8WVA3	Silent	SNP	ENST00000331340.3	37	c.1158C>T																																																																																					0.672	IKZF1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000342242.1	NM_006060		4	4	0	0	0	1	0	4	4					T	50467923	C	T	50467923	2	4	435	1	0	0	0	0	0	0	0	1	7614	755	27	1		1	IKZF1	7	50467923	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	1848052	50467923	108670740	3581	24506											
FIGNL1	63979	broad.mit.edu	37	chr7	50514009	50514009	+	Frame_Shift_Del	DEL	T	T	-																															atctactagctcctagagacTtttttacaccaccatatgaa																										TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:50514009delT	ENST00000419119.1	-	2	2530	c.977delA	c.(976-978)aagfs	p.K326fs	FIGNL1_ENST00000356889.4_Frame_Shift_Del_p.K326fs|FIGNL1_ENST00000395556.2_Frame_Shift_Del_p.K326fs|FIGNL1_ENST00000433017.1_Frame_Shift_Del_p.K326fs			Q6PIW4	FIGL1_HUMAN	fidgetin-like 1	326	Necessary and sufficient for interaction with RAD51.				ATP metabolic process (GO:0046034)|cellular response to ionizing radiation (GO:0071479)|negative regulation of apoptotic process (GO:0043066)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|osteoblast differentiation (GO:0001649)|osteoblast proliferation (GO:0033687)|regulation of cell cycle (GO:0051726)|regulation of double-strand break repair via homologous recombination (GO:0010569)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear chromosome (GO:0000228)|nucleus (GO:0005634)	ATP binding (GO:0005524)|hydrolase activity (GO:0016787)|magnesium ion binding (GO:0000287)			endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(3)|prostate(3)|upper_aerodigestive_tract(1)	29	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;3.73e-08)|all_hematologic(4;7.51e-06)				TCCTAGAGACTTTTTTACACC	0.433																																						ENST00000419119.1																			0				endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(3)|prostate(3)|upper_aerodigestive_tract(1)	29						c.(976-978)agfs		fidgetin-like 1							85	85	85					7																	50514009		2203	4300	6503	SO:0001589	frameshift_variant	63979				ATP metabolic process|negative regulation of apoptosis|osteoblast differentiation|osteoblast proliferation|regulation of cell cycle	cytoplasm|nucleus	ATP binding|magnesium ion binding|nucleoside-triphosphatase activity	g.chr7:50514009delT	AK023142	CCDS5510.1	7p12.2	2010-04-21			ENSG00000132436	ENSG00000132436		"ATPases / AAA-type"	13286	protein-coding gene	gene with protein product		615383					Standard	XM_005271783		Approved		uc003tpc.3	Q6PIW4	OTTHUMG00000022866	ENST00000419119.1:c.977delA	7.37:g.50514009delT	ENSP00000410811:p.Lys326fs					FIGNL1_ENST00000356889.4_Frame_Shift_Del_p.K326fs|FIGNL1_ENST00000433017.1_Frame_Shift_Del_p.K326fs|FIGNL1_ENST00000395556.2_Frame_Shift_Del_p.K326fs	p.K326fs			Q6PIW4	FIGL1_HUMAN			2	2530	-	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;3.73e-08)|all_hematologic(4;7.51e-06)	326					D3DVM6|Q86V18|Q8ND59|Q9H8P1|Q9H917	Frame_Shift_Del	DEL	ENST00000419119.1	37	c.977delA	CCDS5510.1																																																																																				0.433	FIGNL1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342579.1	NM_001042762		23	42						23	42	---	---	---	---	-	50514009	T	-	50514009	7	5	435	1	0	1	0	1	0	0	0	0	5892	1609	56	0	1051	0	FIGNL1	7	50514009	Frame_Shift_Del	DEL	T	TCGA-XK-AAIW-01A-11D-A41K-08	46086	50514009	108624654	3582	24507											
COBL	23242	broad.mit.edu	37	chr7	51152950	51152950	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tggctgtggtggagggggagCtggcgctcgccgcttcttct	2	11	18	10	3	2	0	0	0	2	0	3	2	2	2	1	6	1	4	1	6	0	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:51152950C>T	ENST00000265136.7	-	7	1174	c.1009G>A	c.(1009-1011)Gct>Act	p.A337T	COBL_ENST00000395542.2_Missense_Mutation_p.A362T|COBL_ENST00000395540.2_Missense_Mutation_p.A337T|COBL_ENST00000441453.1_Missense_Mutation_p.A337T	NM_015198.3	NP_056013.2	O75128	COBL_HUMAN	cordon-bleu WH2 repeat protein	337	Pro-rich.				actin filament network formation (GO:0051639)|actin filament polymerization (GO:0030041)|collateral sprouting in absence of injury (GO:0048669)|digestive tract development (GO:0048565)|embryonic axis specification (GO:0000578)|floor plate development (GO:0033504)|liver development (GO:0001889)|neural tube closure (GO:0001843)|notochord development (GO:0030903)|positive regulation of dendrite development (GO:1900006)|somite specification (GO:0001757)	actin filament (GO:0005884)|axon (GO:0030424)|axonal growth cone (GO:0044295)|cell cortex (GO:0005938)|dendrite (GO:0030425)|dendritic growth cone (GO:0044294)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	actin monomer binding (GO:0003785)			NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Glioma(55;0.08)					GGAGGGGGAGCTGGCGCTCGC	0.517																																					NSCLC(189;2119 2138 12223 30818 34679)	ENST00000395542.2																			0				NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	65						c.(1084-1086)Gct>Act		cordon-bleu WH2 repeat protein							140	106	117					7																	51152950		2203	4300	6503	SO:0001583	missense	23242							g.chr7:51152950C>T	AB014533	CCDS34637.1, CCDS75601.1, CCDS75602.1	7p12.2-p12.1	2012-12-07	2012-12-07		ENSG00000106078	ENSG00000106078			22199	protein-coding gene	gene with protein product		610317	"cordon-bleu homolog (mouse)"				Standard	NM_015198		Approved	KIAA0633	uc003tpr.4	O75128	OTTHUMG00000155999	ENST00000265136.7:c.1009G>A	7.37:g.51152950C>T	ENSP00000265136:p.Ala337Thr					COBL_ENST00000395540.2_Missense_Mutation_p.A337T|COBL_ENST00000265136.7_Missense_Mutation_p.A337T|COBL_ENST00000441453.1_Missense_Mutation_p.A337T	p.A362T			O75128	COBL_HUMAN			8	1268	-	Glioma(55;0.08)		302					A4D257|A7E2B0|B7ZLW9|B9EGF8|Q2T9J3|Q504Y4|Q86XA7|Q8N304|Q8TCM1	Missense_Mutation	SNP	ENST00000265136.7	37	c.1084G>A	CCDS34637.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	28.6|28.6	4.931650|4.931650	0.92389|0.92389	.|.	.|.	ENSG00000106078|ENSG00000106078	ENST00000265136;ENST00000445054;ENST00000431948;ENST00000395542;ENST00000395540;ENST00000441453|ENST00000452534	T;T;T;T;T;T|.	0.53857|.	0.6;0.6;0.6;0.6;0.6;0.6|.	5.46|5.46	5.46|5.46	0.80206|0.80206	Cordon-bleu domain (1);|.	0.331422|.	0.22030|.	N|.	0.065618|.	T|T	0.60612|0.60612	0.2282|0.2282	L|L	0.40543|0.40543	1.245|1.245	0.35046|0.35046	D|D	0.760226|0.760226	D;P;D;D;D|.	0.76494|.	0.999;0.893;0.999;0.993;0.999|.	D;P;D;D;D|.	0.70487|.	0.964;0.462;0.935;0.915;0.969|.	T|T	0.66023|0.66023	-0.6026|-0.6026	10|5	0.32370|.	T|.	0.25|.	.|.	16.8034|16.8034	0.85619|0.85619	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	337;337;337;337;362|.	O75128-3;O75128-5;O75128-7;O75128;O75128-2|.	.;.;.;COBL_HUMAN;.|.	T|N	337;229;165;362;337;337|255	ENSP00000265136:A337T;ENSP00000401204:A229T;ENSP00000413498:A165T;ENSP00000378912:A362T;ENSP00000378910:A337T;ENSP00000399500:A337T|.	ENSP00000265136:A337T|.	A|S	-|-	1|2	0|0	COBL|COBL	51120444|51120444	0.811000|0.811000	0.29063|0.29063	0.997000|0.997000	0.53966|0.53966	0.915000|0.915000	0.54546|0.54546	2.051000|2.051000	0.41307|0.41307	2.542000|2.542000	0.85734|0.85734	0.655000|0.655000	0.94253|0.94253	GCT|AGC		0.517	COBL-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000342682.1	NM_015198		10	29	0	0	0	1	0	10	29					T	51152950	C	T	51152950	3	4	435	1	0	0	0	0	1	0	0	0	3653	797	28	3	2804	3	COBL	7	51152950	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	638941	51152950	107985713	3583	24508											
POM121L12	285877	broad.mit.edu	37	chr7	53103572	53103572	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcagtacttccagtgggggCgcccggtgcccagcacccac	6	7	12	16	2	1	0	1	0	0	0	2	0	2	0	4	3	3	2	4	3	1	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:53103572C>T	ENST00000408890.4	+	1	224	c.208C>T	c.(208-210)Cgc>Tgc	p.R70C		NM_182595.3	NP_872401.3	Q8N7R1	P1L12_HUMAN	POM121 transmembrane nucleoporin-like 12	70								p.R70S(1)		endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						CCAGTGGGGGCGCCCGGTGCC	0.706																																						ENST00000408890.4																			1	Substitution - Missense(1)	p.R70S(1)	lung(1)	endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						c.(208-210)Cgc>Tgc		POM121 transmembrane nucleoporin-like 12							23	27	26					7																	53103572		1915	4134	6049	SO:0001583	missense	285877							g.chr7:53103572C>T		CCDS43584.1	7p12.1	2012-03-13	2012-03-13		ENSG00000221900	ENSG00000221900			25369	protein-coding gene	gene with protein product			"POM121 membrane glycoprotein-like 12"				Standard	NM_182595		Approved	DKFZp564N2472	uc003tpz.3	Q8N7R1	OTTHUMG00000155995	ENST00000408890.4:c.208C>T	7.37:g.53103572C>T	ENSP00000386133:p.Arg70Cys						p.R70C	NM_182595.3	NP_872401.3	Q8N7R1	P1L12_HUMAN			1	224	+			70					Q8NDI9	Missense_Mutation	SNP	ENST00000408890.4	37	c.208C>T	CCDS43584.1	.	.	.	.	.	.	.	.	.	.	c	10.72	1.428405	0.25726	.	.	ENSG00000221900	ENST00000408890	T	0.25085	1.82	1.53	-3.06	0.05379	.	.	.	.	.	T	0.09862	0.0242	N	0.08118	0	0.09310	N	1	B	0.09022	0.002	B	0.01281	0.0	T	0.21177	-1.0253	9	0.72032	D	0.01	.	0.6951	0.00897	0.1694:0.3099:0.1684:0.3522	.	70	Q8N7R1	P1L12_HUMAN	C	70	ENSP00000386133:R70C	ENSP00000386133:R70C	R	+	1	0	POM121L12	53071066	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.303000	0.08210	-1.909000	0.01085	-1.924000	0.00514	CGC		0.706	POM121L12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342656.1	NM_182595		13	21	0	0	0	1	0	13	21					T	53103572	C	T	53103572	3	4	435	1	0	0	0	0	1	0	0	0	12241	768	27	1	210	1	POM121L12	7	53103572	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	1950622	53103572	106035091	3584	24509											
EGFR	1956	broad.mit.edu	37	chr7	55221778	55221778	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atgctctacaaccccaccacGtaccagatggatgtgaaccc	12	7	7	15	1	1	2	0	1	1	1	1	3	1	3	5	1	5	2	5	1	4	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:55221778G>A	ENST00000275493.2	+	7	999	c.822G>A	c.(820-822)acG>acA	p.T274T	EGFR_ENST00000454757.2_Silent_p.T221T|EGFR_ENST00000344576.2_Silent_p.T274T|EGFR_ENST00000342916.3_Silent_p.T274T|EGFR_ENST00000455089.1_Silent_p.T229T|EGFR_ENST00000442591.1_Silent_p.T274T|EGFR_ENST00000420316.2_Silent_p.T274T	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	274			Missing (variant EGFR vIII; found in a lung cancer sample; somatic mutation; induces lung cancer when exogenously expressed). {ECO:0000269|PubMed:16672372}.		activation of phospholipase A2 activity by calcium-mediated signaling (GO:0043006)|activation of phospholipase C activity (GO:0007202)|alkanesulfonate metabolic process (GO:0019694)|astrocyte activation (GO:0048143)|axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular response to amino acid stimulus (GO:0071230)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to drug (GO:0035690)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to estradiol stimulus (GO:0071392)|cellular response to mechanical stimulus (GO:0071260)|cerebral cortex cell migration (GO:0021795)|circadian rhythm (GO:0007623)|digestive tract morphogenesis (GO:0048546)|diterpenoid metabolic process (GO:0016101)|embryonic placenta development (GO:0001892)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hair follicle development (GO:0001942)|hydrogen peroxide metabolic process (GO:0042743)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|liver development (GO:0001889)|lung development (GO:0030324)|magnesium ion homeostasis (GO:0010960)|MAPK cascade (GO:0000165)|morphogenesis of an epithelial fold (GO:0060571)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein catabolic process (GO:0042177)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|polysaccharide metabolic process (GO:0005976)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of DNA repair (GO:0045739)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasoconstriction (GO:0045907)|positive regulation of vasodilation (GO:0045909)|protein autophosphorylation (GO:0046777)|protein insertion into membrane (GO:0051205)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to calcium ion (GO:0051592)|response to cobalamin (GO:0033590)|response to hydroxyisoflavone (GO:0033594)|response to osmotic stress (GO:0006970)|response to oxidative stress (GO:0006979)|response to stress (GO:0006950)|response to UV-A (GO:0070141)|salivary gland morphogenesis (GO:0007435)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|tongue development (GO:0043586)|translation (GO:0006412)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|Shc-EGFR complex (GO:0070435)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|epidermal growth factor-activated receptor activity (GO:0005006)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)|ubiquitin protein ligase binding (GO:0031625)			NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Afatinib(DB08916)|Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)|Vandetanib(DB05294)	ACCCCACCACGTACCAGATGG	0.592		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																												ENST00000275493.2		8	yes	Dom	yes	Familial lung cancer	7	7p12.3-p12.1	1956	"A, O, Mis"	"epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)"			"E, O"		NSCLC	"glioma, NSCLC"		0				NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110						c.(820-822)acG>acA		epidermal growth factor receptor	Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)						197	156	170					7																	55221778		2203	4300	6503	SO:0001819	synonymous_variant	1956	Lung Cancer, Familial Clustering of	Familial Cancer Database	incl. Hereditary Lung cancer, Hereditary Non-Small Cell Lung cancer	activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	g.chr7:55221778G>A		CCDS5514.1, CCDS5515.1, CCDS5516.1, CCDS47587.1	7p12	2014-09-17	2010-06-25		ENSG00000146648	ENSG00000146648			3236	protein-coding gene	gene with protein product	"erythroblastic leukemia viral (v-erb-b) oncogene homolog (avian)"	131550	"epidermal growth factor receptor (avian erythroblastic leukemia viral (v-erb-b) oncogene homolog)"	ERBB		1505215	Standard	NM_201282		Approved	ERBB1	uc003tqk.3	P00533	OTTHUMG00000023661	ENST00000275493.2:c.822G>A	7.37:g.55221778G>A		TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)				EGFR_ENST00000454757.2_Silent_p.T221T|EGFR_ENST00000420316.2_Silent_p.T274T|EGFR_ENST00000442591.1_Silent_p.T274T|EGFR_ENST00000455089.1_Silent_p.T229T|EGFR_ENST00000344576.2_Silent_p.T274T|EGFR_ENST00000342916.3_Silent_p.T274T	p.T274T	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		7	999	+	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		274					O00688|O00732|P06268|Q14225|Q68GS5|Q92795|Q9BZS2|Q9GZX1|Q9H2C9|Q9H3C9|Q9UMD7|Q9UMD8|Q9UMG5	Silent	SNP	ENST00000275493.2	37	c.822G>A	CCDS5514.1																																																																																				0.592	EGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251456.2	NM_005228		22	22	0	0	0	1	0	22	22					A	55221778	G	A	55221778	2	1	435	1	0	0	0	0	0	0	0	1	4967	1132	40	1		1	EGFR	7	55221778	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	2118206	55221778	103916885	3585	24510											
SEPT14	346288	broad.mit.edu	37	chr7	55929685	55929685	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcatagccattgttctttctGccatgctacactaaaagagc	11	12	7	11	0	2	1	0	0	2	1	2	1	2	1	2	0	5	3	2	0	4	6			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:55929685G>A	ENST00000388975.3	-	2	121	c.5C>T	c.(4-6)gCa>gTa	p.A2V	SEPT14_ENST00000477628.1_5'UTR	NM_207366.2	NP_997249.2	Q6ZU15	SEP14_HUMAN	septin 14	2					cell cycle (GO:0007049)|cell division (GO:0051301)	septin complex (GO:0031105)	GTP binding (GO:0005525)			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(15)|skin(2)	23	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			TGTTCTTTCTGCCATGCTACA	0.289																																						ENST00000388975.3																			0				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(15)|skin(2)	23						c.(4-6)gCa>gTa		septin 14							56	48	50					7																	55929685		1806	4063	5869	SO:0001583	missense	346288				cell cycle|cell division	septin complex	GTP binding|protein binding	g.chr7:55929685G>A	AK126048	CCDS5519.2	7p11.2	2013-01-21			ENSG00000154997	ENSG00000154997		"Septins"	33280	protein-coding gene	gene with protein product		612140					Standard	NM_207366		Approved	FLJ44060	uc003tqz.2	Q6ZU15	OTTHUMG00000129341	ENST00000388975.3:c.5C>T	7.37:g.55929685G>A	ENSP00000373627:p.Ala2Val					SEPT14_ENST00000477628.1_5'UTR	p.A2V	NM_207366.2	NP_997249.2	Q6ZU15	SEP14_HUMAN	Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)		2	121	-	Breast(14;0.214)		2					A6NCC2|B4DXD6	Missense_Mutation	SNP	ENST00000388975.3	37	c.5C>T	CCDS5519.2	.	.	.	.	.	.	.	.	.	.	g	14.23	2.471928	0.43942	.	.	ENSG00000154997	ENST00000388975	T	0.52057	0.68	2.3	1.37	0.22104	.	.	.	.	.	T	0.36663	0.0975	L	0.29908	0.895	0.23533	N	0.997473	P	0.50443	0.935	P	0.45753	0.492	T	0.18461	-1.0336	9	0.72032	D	0.01	.	6.0519	0.19790	0.0:0.0:0.6947:0.3053	.	2	Q6ZU15	SEP14_HUMAN	V	2	ENSP00000373627:A2V	ENSP00000373627:A2V	A	-	2	0	SEPT14	55897179	1.000000	0.71417	0.983000	0.44433	0.159000	0.22180	0.633000	0.24598	0.481000	0.27557	0.467000	0.42956	GCA		0.289	SEPT14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251489.2	NM_207366		3	11	0	0	0	1	0	3	11					A	55929685	G	A	55929685	3	1	435	1	0	0	0	0	1	0	0	0	14063	1319	46	3	1329	3	SEPT14	7	55929685	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	707907	55929685	103208978	3586	24511											
SUMF2	5260	broad.mit.edu	37	chr7	56146174	56146174	+	IGR	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cgacacagctgatggctctgCcaatcaccgggcccgggtca	8	6	12	15	3	3	1	2	1	1	0	3	2	3	1	3	3	2	2	3	3	1	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:56146174C>T	ENST00000297373.2	-	0	1431				SUMF2_ENST00000437307.2_Missense_Mutation_p.A196V|SUMF2_ENST00000413756.1_Missense_Mutation_p.A265V|SUMF2_ENST00000395435.2_Missense_Mutation_p.A200V|SUMF2_ENST00000395436.2_Missense_Mutation_p.A269V|SUMF2_ENST00000275607.9_Missense_Mutation_p.A177V|SUMF2_ENST00000342190.6_Intron|SUMF2_ENST00000434526.2_Missense_Mutation_p.A284V	NM_001258460.1|NM_006213.4	NP_001245389.1|NP_006204.1	Q16816	PHKG1_HUMAN	phosphorylase kinase, gamma 1 (muscle)						carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|glycogen catabolic process (GO:0005980)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|phosphorylase kinase complex (GO:0005964)	ATP binding (GO:0005524)|phosphorylase kinase activity (GO:0004689)|tau-protein kinase activity (GO:0050321)			endometrium(1)|large_intestine(1)|lung(5)	7	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			GATGGCTCTGCCAATCACCGG	0.647																																					Melanoma(184;580 2064 5329 24177 35303)	ENST00000434526.2																			0				breast(2)|endometrium(2)|large_intestine(1)|lung(6)|ovary(2)|skin(1)	14						c.(850-852)gCc>gTc		sulfatase modifying factor 2							36	32	33					7																	56146174		2203	4299	6502	SO:0001628	intergenic_variant	25870					endoplasmic reticulum lumen	metal ion binding	g.chr7:56146174C>T	X80590	CCDS5525.1, CCDS59057.1	7p11.2	2009-07-10			ENSG00000164776	ENSG00000164776	2.7.11.19		8930	protein-coding gene	gene with protein product		172470		PHKG		8530014	Standard	NM_001258459		Approved		uc011kdb.2	Q16816	OTTHUMG00000023869		7.37:g.56146174C>T						SUMF2_ENST00000395435.2_Missense_Mutation_p.A200V|SUMF2_ENST00000395436.2_Missense_Mutation_p.A269V|SUMF2_ENST00000275607.9_Missense_Mutation_p.A177V|SUMF2_ENST00000342190.6_Intron|SUMF2_ENST00000437307.2_Missense_Mutation_p.A196V|SUMF2_ENST00000413756.1_Missense_Mutation_p.A265V	p.A284V	NM_001042469.1|NM_015411.2	NP_001035934.2|NP_056226.2	Q8NBJ7	SUMF2_HUMAN	Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)		8	882	+	Breast(14;0.214)		265					B7Z1D0|F5H2S1|Q75LP5	Missense_Mutation	SNP	ENST00000297373.2	37	c.851C>T	CCDS5525.1	.	.	.	.	.	.	.	.	.	.	C	35	5.482964	0.96307	.	.	ENSG00000129103	ENST00000395436;ENST00000434526;ENST00000275607;ENST00000395435;ENST00000413952;ENST00000437307;ENST00000413756;ENST00000451338	D;D;D;D;D;D;D;D	0.94138	-3.36;-3.36;-3.36;-3.36;-3.36;-3.36;-3.36;-3.36	5.08	5.08	0.68730	C-type lectin fold (1);Formylglycine-generating sulphatase enzyme domain (2);	.	.	.	.	D	0.94525	0.8237	L	0.33485	1.01	0.58432	D	0.999994	D;D;D;D	0.89917	1.0;0.995;0.988;0.997	D;P;P;D	0.75020	0.985;0.834;0.784;0.93	D	0.94800	0.7970	9	0.52906	T	0.07	.	17.8397	0.88712	0.0:1.0:0.0:0.0	.	181;269;287;265	Q8NBJ7-5;A8MXB9;E7EMF9;Q8NBJ7	.;.;.;SUMF2_HUMAN	V	269;284;177;200;287;196;265;282	ENSP00000378824:A269V;ENSP00000400922:A284V;ENSP00000275607:A177V;ENSP00000378823:A200V;ENSP00000414434:A287V;ENSP00000415989:A196V;ENSP00000406445:A265V;ENSP00000410796:A282V	ENSP00000275607:A177V	A	+	2	0	SUMF2	56113668	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.298000	0.78815	2.517000	0.84864	0.655000	0.94253	GCC		0.647	PHKG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251587.1	NM_006213		6	14	0	0	0	1	0	6	14					T	56146174	C	T	56146174	1	4	435	0	1	0	0	0	0	0	0	0	15383	739	26	3		3	SUMF2	7	56146174	IGR	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	216489	56146174	102992489	3587	24512											
CHCHD2	51142	broad.mit.edu	37	chr7	56172109	56172109	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caactgcagatgggggtgccGctgctggtggctgagcgact	6	8	17	10	2	0	2	0	1	0	1	0	3	0	2	1	4	5	4	1	4	1	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:56172109G>A	ENST00000395422.3	-	2	272	c.110C>T	c.(109-111)gCg>gTg	p.A37V		NM_016139.2	NP_057223.1	Q9Y6H1	CHCH2_HUMAN	coiled-coil-helix-coiled-coil-helix domain containing 2	37						mitochondrion (GO:0005739)				endometrium(1)|large_intestine(1)|lung(3)	5	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			TGGGGGTGCCGCTGCTGGTGG	0.607																																						ENST00000395422.3																			0				endometrium(1)|large_intestine(1)|lung(3)	5						c.(109-111)gCg>gTg		coiled-coil-helix-coiled-coil-helix domain containing 2							12	15	14					7																	56172109		2190	4293	6483	SO:0001583	missense	51142					mitochondrion		g.chr7:56172109G>A	AF078845	CCDS5526.1	7p11.2	2014-07-14	2004-01-19	2004-01-21	ENSG00000106153	ENSG00000106153		"Coiled-coil-helix-coiled-coil-helix domain containing"	21645	protein-coding gene	gene with protein product			"chromosome 7 open reading frame 17"	C7orf17		23303788	Standard	NM_016139		Approved		uc003tsa.3	Q9Y6H1	OTTHUMG00000129429	ENST00000395422.3:c.110C>T	7.37:g.56172109G>A	ENSP00000378812:p.Ala37Val						p.A37V	NM_016139.2	NP_057223.1	Q9Y6H1	CHCH2_HUMAN	Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)		2	272	-	Breast(14;0.214)		37					Q498C3|Q6NZ50	Missense_Mutation	SNP	ENST00000395422.3	37	c.110C>T	CCDS5526.1	.	.	.	.	.	.	.	.	.	.	G	11.76	1.733277	0.30684	.	.	ENSG00000106153	ENST00000395422	T	0.50548	0.74	5.09	2.18	0.27775	.	0.655287	0.15006	N	0.285839	T	0.44871	0.1314	M	0.78049	2.395	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.38499	-0.9658	10	0.18710	T	0.47	.	9.1435	0.36919	0.2481:0.0:0.7519:0.0	.	37	Q9Y6H1	CHCH2_HUMAN	V	37	ENSP00000378812:A37V	ENSP00000378812:A37V	A	-	2	0	CHCHD2	56139603	0.184000	0.23200	0.004000	0.12327	0.958000	0.62258	1.223000	0.32527	0.272000	0.22027	0.655000	0.94253	GCG		0.607	CHCHD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251589.1	NM_016139		9	19	0	0	0	1	0	9	19					A	56172109	G	A	56172109	3	1	435	1	0	0	0	0	1	0	0	0	3316	1087	38	1	357	1	CHCHD2	7	56172109	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	25935	56172109	102966554	3588	24513											
ZNF479	90827	broad.mit.edu	37	chr7	57188283	57188283	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggttagtaagtgctgaggagCgcctaaaggcttggccacat	10	9	14	8	1	0	1	0	1	0	0	0	2	0	2	2	4	2	4	2	4	4	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:57188283C>T	ENST00000331162.4	-	5	1109	c.839G>A	c.(838-840)cGc>cAc	p.R280H		NM_033273.1	NP_150376.1	Q96JC4	ZN479_HUMAN	zinc finger protein 479	280					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(53)|ovary(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	84			GBM - Glioblastoma multiforme(1;9.18e-12)			TGCTGAGGAGCGCCTAAAGGC	0.463																																						ENST00000331162.4																			0				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(53)|ovary(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	84						c.(838-840)cGc>cAc		zinc finger protein 479							35	36	36					7																	57188283		2087	4228	6315	SO:0001583	missense	90827				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:57188283C>T	AF277624	CCDS43590.1	7p11.2	2013-01-08			ENSG00000185177	ENSG00000185177		"Zinc fingers, C2H2-type", "-"	23258	protein-coding gene	gene with protein product						11410164	Standard	NM_033273		Approved	KR19	uc010kzo.3	Q96JC4	OTTHUMG00000156682	ENST00000331162.4:c.839G>A	7.37:g.57188283C>T	ENSP00000333776:p.Arg280His						p.R280H	NM_033273.1	NP_150376.1	Q96JC4	ZN479_HUMAN	GBM - Glioblastoma multiforme(1;9.18e-12)		5	1109	-			280						Missense_Mutation	SNP	ENST00000331162.4	37	c.839G>A	CCDS43590.1	.	.	.	.	.	.	.	.	.	.	a	0.013	-1.638305	0.00799	.	.	ENSG00000185177	ENST00000331162	T	0.36340	1.26	1.01	-2.03	0.07365	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.16428	0.0395	N	0.12471	0.22	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.21177	-1.0253	9	0.20519	T	0.43	.	5.8017	0.18417	0.0:0.4092:0.0:0.5908	.	280	Q96JC4	ZN479_HUMAN	H	280	ENSP00000333776:R280H	ENSP00000333776:R280H	R	-	2	0	ZNF479	57192225	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	-3.090000	0.00609	-1.769000	0.01297	-1.780000	0.00649	CGC		0.463	ZNF479-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345302.1	XM_291202		24	32	0	0	0	1	0	24	32					T	57188283	C	T	57188283	3	4	435	1	0	0	0	0	1	0	0	0	17930	768	27	1	739	1	ZNF479	7	57188283	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	1016174	57188283	101950380	3589	24514											
ZNF716	441234	broad.mit.edu	37	chr7	57522854	57522854	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagaatataaagagaaatgAgatggtagccaaacacccag	19	5	9	8	0	0	3	0	1	0	3	0	5	0	3	3	1	2	1	3	1	7	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:57522854A>G	ENST00000420713.1	+	3	354	c.242A>G	c.(241-243)gAg>gGg	p.E81G		NM_001159279.1	NP_001152751.1	A6NP11	ZN716_HUMAN	zinc finger protein 716	81	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|kidney(1)|lung(20)|ovary(2)	24						AAGAGAAATGAGATGGTAGCC	0.413																																						ENST00000420713.1																			0				breast(1)|kidney(1)|lung(20)|ovary(2)	24						c.(241-243)gAg>gGg		zinc finger protein 716							94	75	81					7																	57522854		692	1591	2283	SO:0001583	missense	441234							g.chr7:57522854A>G	AK131575	CCDS55112.1	7p11.1	2013-01-08			ENSG00000182111	ENSG00000182111		"Zinc fingers, C2H2-type", "-"	32458	protein-coding gene	gene with protein product							Standard	NM_001159279		Approved	FLJ46189	uc011kdi.1	A6NP11	OTTHUMG00000156689	ENST00000420713.1:c.242A>G	7.37:g.57522854A>G	ENSP00000394248:p.Glu81Gly						p.E81G	NM_001159279.1	NP_001152751.1					3	354	+									Missense_Mutation	SNP	ENST00000420713.1	37	c.242A>G	CCDS55112.1	.	.	.	.	.	.	.	.	.	.	A	13.38	2.218444	0.39201	.	.	ENSG00000182111	ENST00000420713;ENST00000418732	T	0.05996	3.36	0.793	0.793	0.18632	Krueppel-associated box (1);	.	.	.	.	T	0.03651	0.0104	N	0.17674	0.51	0.23712	N	0.99705	B	0.33694	0.421	B	0.30646	0.118	T	0.42327	-0.9458	9	0.40728	T	0.16	.	3.8266	0.08856	1.0:0.0:0.0:0.0	.	69	A6NP11	ZN716_HUMAN	G	81;69	ENSP00000394248:E81G	ENSP00000387687:E69G	E	+	2	0	ZNF716	57526796	0.001000	0.12720	0.718000	0.30602	0.720000	0.41350	0.472000	0.22116	0.243000	0.21327	0.240000	0.17902	GAG		0.413	ZNF716-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345309.1	NM_001159279		21	49	0	0	0	1	0	21	49					G	57522854	A	G	57522854	3	3	435	1	0	0	0	0	1	0	0	0	18116	304	11	4	252	4	ZNF716	7	57522854	Missense_Mutation	SNP	A	TCGA-XK-AAIW-01A-11D-A41K-08	334571	57522854	101615809	3590	24515											
ZNF679	168417	broad.mit.edu	37	chr7	63726748	63726748	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ctacagatgtgaggaatgtgGcaaagcttttacctggtcct	10	12	11	8	0	0	2	0	1	0	1	1	3	1	3	2	3	3	2	2	3	4	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:63726748G>A	ENST00000421025.1	+	5	1006	c.737G>A	c.(736-738)gGc>gAc	p.G246D	ZNF679_ENST00000255746.4_Missense_Mutation_p.G246D	NM_001159524.1|NM_153363.2	NP_001152996.1|NP_699194.2	Q8IYX0	ZN679_HUMAN	zinc finger protein 679	246					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(2)|kidney(3)|lung(11)|skin(1)|stomach(1)	18						GAGGAATGTGGCAAAGCTTTT	0.428																																						ENST00000421025.1																			0				endometrium(2)|kidney(3)|lung(11)|skin(1)|stomach(1)	18						c.(736-738)gGc>gAc		zinc finger protein 679							33	35	35					7																	63726748		692	1591	2283	SO:0001583	missense	168417				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:63726748G>A	BC033523	CCDS47592.1	7q11.21	2013-01-08			ENSG00000197123	ENSG00000197123		"Zinc fingers, C2H2-type", "-"	28650	protein-coding gene	gene with protein product	"hypothetical protein MGC42415"					12477932	Standard	NM_153363		Approved	MGC42415	uc003tsx.3	Q8IYX0	OTTHUMG00000156486	ENST00000421025.1:c.737G>A	7.37:g.63726748G>A	ENSP00000416809:p.Gly246Asp					ZNF679_ENST00000255746.4_Missense_Mutation_p.G246D	p.G246D	NM_001159524.1|NM_153363.2	NP_001152996.1|NP_699194.2	Q8IYX0	ZN679_HUMAN			5	1006	+			246						Missense_Mutation	SNP	ENST00000421025.1	37	c.737G>A	CCDS47592.1	.	.	.	.	.	.	.	.	.	.	G	17.20	3.329841	0.60743	.	.	ENSG00000197123	ENST00000421025;ENST00000255746	T;T	0.01430	4.9;4.9	0.81	0.81	0.18732	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.02047	0.0064	L	0.31476	0.935	0.31148	N	0.705862	D	0.63046	0.992	P	0.51170	0.661	T	0.49244	-0.8960	9	0.62326	D	0.03	.	6.9761	0.24677	0.0:0.0:1.0:0.0	.	246	Q8IYX0	ZN679_HUMAN	D	246	ENSP00000416809:G246D;ENSP00000255746:G246D	ENSP00000255746:G246D	G	+	2	0	ZNF679	63364183	1.000000	0.71417	0.787000	0.31911	0.789000	0.44602	2.272000	0.43373	0.181000	0.19994	0.184000	0.17185	GGC		0.428	ZNF679-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344317.2	NM_153363		14	28	0	0	0	1	0	14	28					A	63726748	G	A	63726748	3	1	435	1	0	0	0	0	1	0	0	0	18083	1203	42	3	751	3	ZNF679	7	63726748	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	6203894	63726748	95411915	3591	24516											
ZNF107	51427	broad.mit.edu	37	chr7	64168355	64168355	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ctacaaatgtgaagaacatgGcaaagtttttaaccagtcct	15	11	7	8	0	0	2	0	1	0	1	1	2	1	2	2	1	3	2	2	1	6	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:64168355G>A	ENST00000395391.1	+	4	3048	c.1673G>A	c.(1672-1674)gGc>gAc	p.G558D	ZNF107_ENST00000344930.3_Missense_Mutation_p.G558D|ZNF107_ENST00000423627.1_Missense_Mutation_p.G558D			Q9UII5	ZN107_HUMAN	zinc finger protein 107	558					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(18)|ovary(1)|stomach(1)	37		Lung NSC(55;0.00948)|all_lung(88;0.0249)				GAAGAACATGGCAAAGTTTTT	0.348																																						ENST00000395391.1																			0				breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(18)|ovary(1)|stomach(1)	37						c.(1672-1674)gGc>gAc		zinc finger protein 107							42	47	45					7																	64168355		2201	4296	6497	SO:0001583	missense	51427				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:64168355G>A	AB027251	CCDS5527.1, CCDS75605.1, CCDS75606.1	7q11.2	2013-01-08	2007-06-26			ENSG00000196247		"Zinc fingers, C2H2-type"	12887	protein-coding gene	gene with protein product		603989	"zinc finger protein 588", "zinc finger protein 107 (Y8)"	ZNF588		8467795	Standard	NM_016220		Approved	ZFD25, smap-7	uc003tte.3	Q9UII5		ENST00000395391.1:c.1673G>A	7.37:g.64168355G>A	ENSP00000378789:p.Gly558Asp					ZNF107_ENST00000344930.3_Missense_Mutation_p.G558D|ZNF107_ENST00000423627.1_Missense_Mutation_p.G558D	p.G558D			Q9UII5	ZN107_HUMAN			4	3048	+		Lung NSC(55;0.00948)|all_lung(88;0.0249)	558						Missense_Mutation	SNP	ENST00000395391.1	37	c.1673G>A	CCDS5527.1	.	.	.	.	.	.	.	.	.	.	.	16.44	3.123694	0.56613	.	.	ENSG00000196247	ENST00000344930;ENST00000423627;ENST00000395391	T;T;T	0.01015	5.44;5.44;5.44	1.27	1.27	0.21489	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.02970	0.0088	L	0.55834	1.745	0.34560	D	0.712307	D	0.89917	1.0	D	0.83275	0.996	T	0.53436	-0.8439	8	.	.	.	.	7.9559	0.30042	0.0:0.0:1.0:0.0	.	558	Q9UII5	ZN107_HUMAN	D	558	ENSP00000343443:G558D;ENSP00000400037:G558D;ENSP00000378789:G558D	.	G	+	2	0	ZNF107	63805790	0.998000	0.40836	0.027000	0.17364	0.215000	0.24574	2.729000	0.47327	0.635000	0.30488	0.313000	0.20887	GGC		0.348	ZNF107-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251593.1	NM_016220		36	52	0	0	0	1	0	36	52					A	64168355	G	A	64168355	3	1	435	1	0	0	0	0	1	0	0	0	17712	1203	42	3	1679	3	ZNF107	7	64168355	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	441607	64168355	94970308	3592	24517											
ZNF92	168374	broad.mit.edu	37	chr7	64864737	64864737	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctgcaaacatgaatgtggCagagcctttaacaaatcctc	13	9	7	12	0	0	2	0	1	0	1	2	2	1	2	3	1	4	2	3	1	4	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:64864737C>T	ENST00000328747.7	+	4	1909	c.1710C>T	c.(1708-1710)ggC>ggT	p.G570G	ZNF92_ENST00000357512.2_Silent_p.G538G|ZNF92_ENST00000450302.2_Silent_p.G501G|ZNF92_ENST00000431504.1_Silent_p.G494G	NM_152626.2	NP_689839.1	Q03936	ZNF92_HUMAN	zinc finger protein 92	570					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|large_intestine(3)|lung(4)|pancreas(1)|skin(1)|stomach(1)	13		Lung NSC(55;0.159)				ATGAATGTGGCAGAGCCTTTA	0.328																																						ENST00000328747.7																			0				breast(2)|endometrium(1)|large_intestine(3)|lung(4)|pancreas(1)|skin(1)|stomach(1)	13						c.(1708-1710)ggC>ggT		zinc finger protein 92							44	50	48					7																	64864737		2200	4297	6497	SO:0001819	synonymous_variant	168374					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr7:64864737C>T	M61872	CCDS34646.1, CCDS47596.1, CCDS75608.1, CCDS75609.1	7q11.21	2013-01-08	2006-05-12		ENSG00000146757	ENSG00000146757		"Zinc fingers, C2H2-type", "-"	13168	protein-coding gene	gene with protein product		603974	"zinc finger protein 92 (HTF12)"			8467795	Standard	NM_001287533		Approved	HPF12, TF12	uc003ttz.3	Q03936	OTTHUMG00000156557	ENST00000328747.7:c.1710C>T	7.37:g.64864737C>T						ZNF92_ENST00000431504.1_Silent_p.G494G|ZNF92_ENST00000357512.2_Silent_p.G538G|ZNF92_ENST00000450302.2_Silent_p.G501G	p.G570G	NM_152626.2	NP_689839.1	Q03936	ZNF92_HUMAN			4	1909	+		Lung NSC(55;0.159)	570					A6NNF9|Q8N492|Q8NB35	Silent	SNP	ENST00000328747.7	37	c.1710C>T	CCDS34646.1																																																																																				0.328	ZNF92-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000344589.2	NM_152626		26	51	0	0	0	1	0	26	51					T	64864737	C	T	64864737	2	4	435	1	0	0	0	0	0	0	0	1	18198	697	25	3		3	ZNF92	7	64864737	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	696382	64864737	94273926	3593	24518											
SBDS	51119	broad.mit.edu	37	chr7	66458255	66458255	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaatagtggatgtccttcatGgctctctcaataaggatcac	11	12	9	9	0	4	0	3	0	1	0	6	3	5	2	1	3	0	1	1	3	4	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:66458255G>T	ENST00000246868.2	-	3	591	c.408C>A	c.(406-408)gcC>gcA	p.A136A		NM_016038.2	NP_057122.2	Q9Y3A5	SBDS_HUMAN	Shwachman-Bodian-Diamond syndrome	136					bone marrow development (GO:0048539)|bone mineralization (GO:0030282)|cell proliferation (GO:0008283)|inner cell mass cell proliferation (GO:0001833)|leukocyte chemotaxis (GO:0030595)|mature ribosome assembly (GO:0042256)|mitotic spindle stabilization (GO:0043148)|ribosomal large subunit biogenesis (GO:0042273)|rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|spindle pole (GO:0000922)	microtubule binding (GO:0008017)|poly(A) RNA binding (GO:0044822)|ribosome binding (GO:0043022)|rRNA binding (GO:0019843)			cervix(1)|endometrium(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	7						TGTCCTTCATGGCTCTCTCAA	0.413			Gene Conversion			"AML, MDS"			Shwachman-Diamond syndrome																													ENST00000246868.2			yes	Rec		Schwachman-Diamond syndrome	7	7q11	51119	Gene Conversion	Shwachman-Bodian-Diamond syndrome protein			L		"AML, MDS"			0				cervix(1)|endometrium(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	7						c.(406-408)gcC>gcA		Shwachman-Bodian-Diamond syndrome							293	263	273					7																	66458255		2203	4300	6503	SO:0001819	synonymous_variant	51119	Shwachman-Diamond syndrome	Familial Cancer Database	Shwachman syndrome, Shwachman-Bodian syndrome, Congenital Lipomatosis of the Pancreas	bone marrow development|bone mineralization|leukocyte chemotaxis|mature ribosome assembly|mitotic spindle stabilization|positive regulation of translation|ribosomal large subunit biogenesis|rRNA processing	cytoplasm|nucleolus|nucleoplasm|spindle pole	microtubule binding|ribosome binding|rRNA binding	g.chr7:66458255G>T	AF151855	CCDS5537.1	7q11.22	2014-09-17			ENSG00000126524	ENSG00000126524			19440	protein-coding gene	gene with protein product		607444				12496757	Standard	NM_016038		Approved	CGI-97, FLJ10917, SDS, SWDS	uc003tvm.1	Q9Y3A5	OTTHUMG00000023165	ENST00000246868.2:c.408C>A	7.37:g.66458255G>T							p.A136A	NM_016038.2	NP_057122.2	Q9Y3A5	SBDS_HUMAN			3	591	-			136					A8K0P4|Q96FX0|Q9NV53	Silent	SNP	ENST00000246868.2	37	c.408C>A	CCDS5537.1																																																																																				0.413	SBDS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251746.2	NM_016038		67	123	1	0	1.93348e-29	1	2.16538e-29	67	123					T	66458255	G	T	66458255	2	4	435	1	0	0	0	0	0	0	0	1	13857	1335	47	5		5	SBDS	7	66458255	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	1593518	66458255	92680408	3594	24519											
TYW1	55253	broad.mit.edu	37	chr7	66479425	66479425	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctaccaactgaaagtgcagaGtggttctgcaaatggttaga	13	10	11	7	0	1	3	0	1	1	2	1	3	1	3	1	2	4	4	1	2	5	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:66479425G>A	ENST00000359626.5	+	5	611	c.447G>A	c.(445-447)gaG>gaA	p.E149E		NM_018264.2	NP_060734.2	Q9NV66	TYW1_HUMAN	tRNA-yW synthesizing protein 1 homolog (S. cerevisiae)	149	Flavodoxin-like. {ECO:0000255|PROSITE- ProRule:PRU00088}.				tRNA processing (GO:0008033)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|FMN binding (GO:0010181)|iron ion binding (GO:0005506)|lyase activity (GO:0016829)|oxidoreductase activity (GO:0016491)			breast(1)|endometrium(8)|kidney(10)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(3)|stomach(2)|urinary_tract(2)	46		Lung NSC(55;0.0846)|all_lung(88;0.183)				AAAGTGCAGAGTGGTTCTGCA	0.428																																						ENST00000359626.5																			0				breast(1)|endometrium(8)|kidney(10)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(3)|stomach(2)|urinary_tract(2)	46						c.(445-447)gaG>gaA		tRNA-yW synthesizing protein 1 homolog (S. cerevisiae)							169	145	153					7																	66479425		2203	4299	6502	SO:0001819	synonymous_variant	55253				tRNA processing		4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity	g.chr7:66479425G>A	AK001762	CCDS5538.1	7q11.21	2007-11-29	2007-11-29	2007-11-29	ENSG00000198874	ENSG00000198874			25598	protein-coding gene	gene with protein product	"tRNA-yW synthesizing protein 1 homolog A (S. cerevisiae)"	611243	"radical S-adenosyl methionine and flavodoxin domains 1"	RSAFD1		16162496, 17150819	Standard	NM_018264		Approved	FLJ10900, MGC23001, MGC60291, YPL207W, TYW1A	uc003tvn.4	Q9NV66	OTTHUMG00000129723	ENST00000359626.5:c.447G>A	7.37:g.66479425G>A							p.E149E	NM_018264.2	NP_060734.2	Q9NV66	TYW1_HUMAN			5	611	+		Lung NSC(55;0.0846)|all_lung(88;0.183)	149			Flavodoxin-like.		Q6PJG8|Q75MG8|Q75MN3|Q86V12|Q8IVS7|Q9H9C4	Silent	SNP	ENST00000359626.5	37	c.447G>A	CCDS5538.1																																																																																				0.428	TYW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251932.2	NM_018264		55	64	0	0	0	1	0	55	64					A	66479425	G	A	66479425	2	1	435	1	0	0	0	0	0	0	0	1	16815	1020	36	3		3	TYW1	7	66479425	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	21170	66479425	92659238	3595	24520											
TYW1	55253	broad.mit.edu	37	chr7	66482879	66482879	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtggctctggatgcttggcGcgcatcgtgtgatgagtcga	6	11	16	8	4	1	2	0	2	1	0	3	4	1	3	0	3	1	3	0	3	0	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:66482879G>A	ENST00000359626.5	+	6	774	c.610G>A	c.(610-612)Gcg>Acg	p.A204T		NM_018264.2	NP_060734.2	Q9NV66	TYW1_HUMAN	tRNA-yW synthesizing protein 1 homolog (S. cerevisiae)	204	Flavodoxin-like. {ECO:0000255|PROSITE- ProRule:PRU00088}.				tRNA processing (GO:0008033)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|FMN binding (GO:0010181)|iron ion binding (GO:0005506)|lyase activity (GO:0016829)|oxidoreductase activity (GO:0016491)			breast(1)|endometrium(8)|kidney(10)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(3)|stomach(2)|urinary_tract(2)	46		Lung NSC(55;0.0846)|all_lung(88;0.183)				GATGCTTGGCGCGCATCGTGT	0.507																																						ENST00000359626.5																			0				breast(1)|endometrium(8)|kidney(10)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(3)|stomach(2)|urinary_tract(2)	46						c.(610-612)Gcg>Acg		tRNA-yW synthesizing protein 1 homolog (S. cerevisiae)							85	77	80					7																	66482879		2203	4300	6503	SO:0001583	missense	55253				tRNA processing		4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity	g.chr7:66482879G>A	AK001762	CCDS5538.1	7q11.21	2007-11-29	2007-11-29	2007-11-29	ENSG00000198874	ENSG00000198874			25598	protein-coding gene	gene with protein product	"tRNA-yW synthesizing protein 1 homolog A (S. cerevisiae)"	611243	"radical S-adenosyl methionine and flavodoxin domains 1"	RSAFD1		16162496, 17150819	Standard	NM_018264		Approved	FLJ10900, MGC23001, MGC60291, YPL207W, TYW1A	uc003tvn.4	Q9NV66	OTTHUMG00000129723	ENST00000359626.5:c.610G>A	7.37:g.66482879G>A	ENSP00000352645:p.Ala204Thr						p.A204T	NM_018264.2	NP_060734.2	Q9NV66	TYW1_HUMAN			6	774	+		Lung NSC(55;0.0846)|all_lung(88;0.183)	204			Flavodoxin-like.		Q6PJG8|Q75MG8|Q75MN3|Q86V12|Q8IVS7|Q9H9C4	Missense_Mutation	SNP	ENST00000359626.5	37	c.610G>A	CCDS5538.1	.	.	.	.	.	.	.	.	.	.	G	18.89	3.720533	0.68959	.	.	ENSG00000198874	ENST00000359626	T	0.68331	-0.32	4.03	4.03	0.46877	Flavodoxin/nitric oxide synthase (2);	0.067624	0.56097	U	0.000021	D	0.84293	0.5440	H	0.97415	4	0.80722	D	1	D	0.63880	0.993	P	0.54629	0.757	D	0.89976	0.4097	10	0.72032	D	0.01	.	14.0157	0.64523	0.0:0.0:1.0:0.0	.	204	Q9NV66	TYW1_HUMAN	T	204	ENSP00000352645:A204T	ENSP00000352645:A204T	A	+	1	0	TYW1	66120314	1.000000	0.71417	0.052000	0.19188	0.119000	0.20118	8.803000	0.91915	2.254000	0.74563	0.313000	0.20887	GCG		0.507	TYW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251932.2	NM_018264		27	33	0	0	0	1	0	27	33					A	66482879	G	A	66482879	3	1	435	1	0	0	0	0	1	0	0	0	16815	1087	38	1	632	1	TYW1	7	66482879	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	3454	66482879	92655784	3596	24521											
STAG3L4	64940	broad.mit.edu	37	chr7	66774022	66774022	+	RNA	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	attggtctgtcggtgccagtAcatcctcctccatgatgact	7	13	9	12	1	1	2	0	2	1	0	5	2	4	2	4	2	2	1	4	2	1	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:66774022A>G	ENST00000416602.2	+	0	463					NR_040586.1		Q8TBR4	ST3L4_HUMAN	stromal antigen 3-like 4 (pseudogene)											endometrium(2)|lung(5)	7		Lung NSC(55;0.0839)|all_lung(88;0.181)				CGGTGCCAGTACATCCTCCTC	0.547																																						ENST00000416602.2																			0				endometrium(2)|lung(5)	7															156	157	157					7																	66774022		2203	4300	6503			0							g.chr7:66774022A>G			7q11.21	2013-06-26	2013-06-26		ENSG00000106610	ENSG00000106610			33887	pseudogene	pseudogene			"stromal antigen 3-like 4"				Standard	NR_040585		Approved	FLJ13195, STAG3L4P	uc010laj.3	Q8TBR4	OTTHUMG00000156920		7.37:g.66774022A>G								NR_040586.1		Q8TBR4	STG34_HUMAN			0	463	+		Lung NSC(55;0.0839)|all_lung(88;0.181)						Q9H8W0	RNA	SNP	ENST00000416602.2	37			.	.	.	.	.	.	.	.	.	.	a	6.346	0.431944	0.12045	.	.	ENSG00000106610	ENST00000416602;ENST00000437742	.	.	.	0.0465	0.0465	0.14256	STAG (1);	0.283898	0.26082	N	0.026444	T	0.62588	0.2440	.	.	.	.	.	.	D	0.76494	0.999	D	0.77557	0.99	T	0.64980	-0.6279	7	0.52906	T	0.07	.	4.565	0.12180	0.9994:0.0:6.0E-4:0.0	.	63	Q8TBR4	STG34_HUMAN	C	63	.	ENSP00000408597:Y63C	Y	+	2	0	STAG3L4	66411457	1.000000	0.71417	0.161000	0.22692	0.163000	0.22366	5.919000	0.70005	0.115000	0.18071	0.113000	0.15668	TAC		0.547	STAG3L4-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000346611.1	NM_022906		25	36	0	0	0	1	0	25	36					G	66774022	A	G	66774022	1	3	435	0	1	0	0	0	0	0	0	0	15246	391	14	4		4	STAG3L4	7	66774022	RNA	SNP	A	TCGA-XK-AAIW-01A-11D-A41K-08	291143	66774022	92364641	3597	24522											
AUTS2	26053	broad.mit.edu	37	chr7	70255719	70255719	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctccactccgtgcaccccGcctccctcgacggacacctc	5	6	8	22	4	0	0	0	0	0	0	5	2	3	1	7	2	1	2	7	2	0	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:70255719G>A	ENST00000342771.4	+	19	3838	c.3517G>A	c.(3517-3519)Gcc>Acc	p.A1173T	AUTS2_ENST00000406775.2_Missense_Mutation_p.A1149T	NM_015570.2	NP_056385.1	Q8WXX7	AUTS2_HUMAN	autism susceptibility candidate 2	1173	His-rich.									breast(2)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	50		all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093)		LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186)		CGTGCACCCCGCCTCCCTCGA	0.697																																						ENST00000342771.4																			0				breast(2)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	50						c.(3517-3519)Gcc>Acc		autism susceptibility candidate 2							42	51	48					7																	70255719		2202	4300	6502	SO:0001583	missense	26053							g.chr7:70255719G>A	AF326917	CCDS5539.1, CCDS47601.1, CCDS47602.1	7q11.22	2014-01-06			ENSG00000158321	ENSG00000158321			14262	protein-coding gene	gene with protein product		607270				12160723	Standard	XM_005250257		Approved	KIAA0442, FBRSL2	uc003tvw.4	Q8WXX7	OTTHUMG00000023865	ENST00000342771.4:c.3517G>A	7.37:g.70255719G>A	ENSP00000344087:p.Ala1173Thr					AUTS2_ENST00000406775.2_Missense_Mutation_p.A1149T	p.A1173T	NM_015570.2	NP_056385.1	Q8WXX7	AUTS2_HUMAN		LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186)	19	3838	+		all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093)	1173			His-rich.		A4D1Y9|L7QET3|L7QF75|Q5D049|Q6PJU5|Q9Y4F2	Missense_Mutation	SNP	ENST00000342771.4	37	c.3517G>A	CCDS5539.1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.460321	0.84317	.	.	ENSG00000158321	ENST00000406775;ENST00000342771	T;T	0.31510	1.49;1.49	5.15	4.26	0.50523	.	0.217711	0.47455	D	0.000221	T	0.33147	0.0853	L	0.46157	1.445	0.80722	D	1	D;D;D	0.71674	0.987;0.998;0.995	P;P;P	0.47915	0.56;0.561;0.561	T	0.04855	-1.0922	9	.	.	.	-20.2571	14.022	0.64560	0.0747:0.0:0.9252:0.0	.	625;1149;1173	B4DLG0;Q8WXX7-2;Q8WXX7	.;.;AUTS2_HUMAN	T	1149;1173	ENSP00000385263:A1149T;ENSP00000344087:A1173T	.	A	+	1	0	AUTS2	69893655	0.998000	0.40836	0.997000	0.53966	0.987000	0.75469	2.610000	0.46325	2.404000	0.81709	0.655000	0.94253	GCC		0.697	AUTS2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251971.2			6	8	0	0	0	1	0	6	8					A	70255719	G	A	70255719	3	1	435	1	0	0	0	0	1	0	0	0	1225	1087	38	1	3736	1	AUTS2	7	70255719	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	3481697	70255719	88882944	3598	24523											
WBSCR17	64409	broad.mit.edu	37	chr7	71135078	71135078	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	aatgagaagatacaataataCcgttgcttacggggaggtaa	16	9	11	5	2	0	2	0	1	0	2	0	4	0	3	1	3	4	3	1	3	8	6			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:71135078C>T	ENST00000333538.5	+	8	2022	c.1388C>T	c.(1387-1389)aCc>aTc	p.T463I	WBSCR17_ENST00000498380.2_3'UTR	NM_022479.1	NP_071924.1	Q6IS24	GLTL3_HUMAN	Williams-Beuren syndrome chromosome region 17	463					protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	100		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)				TACAATAATACCGTTGCTTAC	0.433																																						ENST00000333538.5																			0				NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	100						c.(1387-1389)aCc>aTc		Williams-Beuren syndrome chromosome region 17							206	200	202					7																	71135078		2203	4300	6503	SO:0001583	missense	64409					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr7:71135078C>T	AF410457	CCDS5540.1	7q11.23	2014-03-13			ENSG00000185274	ENSG00000185274		"Glycosyltransferase family 2 domain containing"	16347	protein-coding gene	gene with protein product	"polypeptide N-acetylgalactosaminyltransferase-like 3", "polypeptide GalNAc transferase 3"	615137				12073013, 15744064, 22787146	Standard	NM_022479		Approved	GALNTL3, GalNAc-T5L	uc003tvy.4	Q6IS24	OTTHUMG00000129783	ENST00000333538.5:c.1388C>T	7.37:g.71135078C>T	ENSP00000329654:p.Thr463Ile					WBSCR17_ENST00000498380.2_3'UTR	p.T463I	NM_022479.1	NP_071924.1	Q6IS24	GLTL3_HUMAN			8	2022	+		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)	463					Q8NFV9|Q9NTA8	Missense_Mutation	SNP	ENST00000333538.5	37	c.1388C>T	CCDS5540.1	.	.	.	.	.	.	.	.	.	.	C	6.677	0.493546	0.12702	.	.	ENSG00000185274	ENST00000333538	T	0.30981	1.51	4.85	4.85	0.62838	Ricin B-related lectin (1);	0.314136	0.33110	N	0.005262	T	0.18882	0.0453	N	0.03304	-0.355	0.54753	D	0.999982	P	0.51147	0.942	P	0.50352	0.638	T	0.06661	-1.0814	10	0.19590	T	0.45	.	10.5677	0.45181	0.0:0.9112:0.0:0.0888	.	463	Q6IS24	GLTL3_HUMAN	I	463	ENSP00000329654:T463I	ENSP00000329654:T463I	T	+	2	0	WBSCR17	70773014	1.000000	0.71417	0.824000	0.32777	0.723000	0.41478	4.982000	0.63825	2.238000	0.73509	0.591000	0.81541	ACC		0.433	WBSCR17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252006.1	NM_022479		55	81	0	0	0	1	0	55	81					T	71135078	C	T	71135078	3	4	435	1	0	0	0	0	1	0	0	0	17261	507	18	3	1418	3	WBSCR17	7	71135078	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	879359	71135078	88003585	3599	24524											
TYW1B	441250	broad.mit.edu	37	chr7	72040531	72040531	+	RNA	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctttctctgatgtcttgtGtccttgggatcaaagcttct	5	19	8	9	0	5	1	1	1	4	0	7	2	6	2	1	1	1	1	1	1	1	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:72040531G>A	ENST00000435769.2	-	0	2082				TYW1B_ENST00000438125.1_RNA|TYW1B_ENST00000343721.5_RNA			Q6NUM6	TYW1B_HUMAN	tRNA-yW synthesizing protein 1 homolog B (S. cerevisiae)						tRNA processing (GO:0008033)		4 iron, 4 sulfur cluster binding (GO:0051539)|FMN binding (GO:0010181)|iron ion binding (GO:0005506)|lyase activity (GO:0016829)|oxidoreductase activity (GO:0016491)										GATGTCTTGTGTCCTTGGGAT	0.408																																						ENST00000438125.1																			0													tRNA-yW synthesizing protein 1 homolog B (S. cerevisiae)							223	168	185					7																	72040531		692	1591	2283			441250				tRNA processing		4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity	g.chr7:72040531G>A	BC068520	CCDS69309.1	7q11.23	2011-08-11	2009-07-28		ENSG00000254184	ENSG00000277149			33908	protein-coding gene	gene with protein product	"radical S-adenosyl methionine and flavodoxin domains 1", "non-protein coding RNA 69", "long intergenic non-protein coding RNA 69"		"tRNA-yW synthesizing protein 1 homolog B (non-protein coding)"				Standard	NM_001145440		Approved	RSAFD2, MGC87315, NCRNA00069, LINC00069	uc011kej.2	Q6NUM6	OTTHUMG00000157067		7.37:g.72040531G>A										Q6NUM6	TYW1B_HUMAN			0	1399	-								A6NG09|B4DFY2|Q3KQX2	RNA	SNP	ENST00000435769.2	37																																																																																						0.408	TYW1B-001	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000347346.2	NM_001145440		18	36	0	0	0	1	0	18	36					A	72040531	G	A	72040531	1	1	435	0	1	0	0	0	0	0	0	0	16816	1368	48	3		3	TYW1B	7	72040531	RNA	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	905453	72040531	87098132	3600	24525											
TYW1B	441250	broad.mit.edu	37	chr7	72267429	72267429	+	RNA	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggtaccttttctttcttcaCgtgatccataattttgccca	7	18	5	11	1	3	1	1	1	2	0	4	1	4	1	3	1	2	1	3	1	2	8			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:72267429C>T	ENST00000435769.2	-	0	954				TYW1B_ENST00000438125.1_RNA|TYW1B_ENST00000438904.2_RNA			Q6NUM6	TYW1B_HUMAN	tRNA-yW synthesizing protein 1 homolog B (S. cerevisiae)						tRNA processing (GO:0008033)		4 iron, 4 sulfur cluster binding (GO:0051539)|FMN binding (GO:0010181)|iron ion binding (GO:0005506)|lyase activity (GO:0016829)|oxidoreductase activity (GO:0016491)										TCTTTCTTCACGTGATCCATA	0.413																																						ENST00000438125.1																			0													tRNA-yW synthesizing protein 1 homolog B (S. cerevisiae)							275	226	241					7																	72267429		692	1591	2283			441250				tRNA processing		4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity	g.chr7:72267429C>T	BC068520	CCDS69309.1	7q11.23	2011-08-11	2009-07-28		ENSG00000254184	ENSG00000277149			33908	protein-coding gene	gene with protein product	"radical S-adenosyl methionine and flavodoxin domains 1", "non-protein coding RNA 69", "long intergenic non-protein coding RNA 69"		"tRNA-yW synthesizing protein 1 homolog B (non-protein coding)"				Standard	NM_001145440		Approved	RSAFD2, MGC87315, NCRNA00069, LINC00069	uc011kej.2	Q6NUM6	OTTHUMG00000157067		7.37:g.72267429C>T										Q6NUM6	TYW1B_HUMAN			0	444	-								A6NG09|B4DFY2|Q3KQX2	RNA	SNP	ENST00000435769.2	37																																																																																						0.413	TYW1B-001	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000347346.2	NM_001145440		19	45	0	0	0	1	0	19	45					T	72267429	C	T	72267429	1	4	435	0	1	0	0	0	0	0	0	0	16816	536	19	1		1	TYW1B	7	72267429	RNA	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	226898	72267429	86871234	3601	24526											
NSUN5	55695	broad.mit.edu	37	chr7	72718231	72718231	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttctcgccatctcacccgaGccactgcaggaaggatccag	9	8	9	15	2	2	0	1	0	2	0	5	3	3	2	4	2	2	1	4	2	1	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:72718231G>A	ENST00000252594.6	-	7	945	c.930C>T	c.(928-930)ggC>ggT	p.G310G	NSUN5_ENST00000438747.2_Silent_p.G310G|NSUN5_ENST00000310326.8_Silent_p.G310G|NSUN5_ENST00000428206.1_Silent_p.G272G			Q96P11	NSUN5_HUMAN	NOP2/Sun domain family, member 5	310					rRNA processing (GO:0006364)	nucleolus (GO:0005730)|nucleus (GO:0005634)	methyltransferase activity (GO:0008168)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(3)|large_intestine(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	8		Lung NSC(55;0.163)				TCTCACCCGAGCCACTGCAGG	0.567																																						ENST00000428206.1																			0				breast(1)|endometrium(3)|large_intestine(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	8						c.(814-816)ggC>ggT		NOP2/Sun domain family, member 5							39	34	36					7																	72718231		2203	4300	6503	SO:0001819	synonymous_variant	55695						methyltransferase activity	g.chr7:72718231G>A	AF420249	CCDS5546.1, CCDS5547.1, CCDS55118.1, CCDS55119.1	7q11.23	2010-04-08	2009-11-23	2005-01-14	ENSG00000130305	ENSG00000130305		"NOP2/Sun domain containing"	16385	protein-coding gene	gene with protein product	"NOP2/Sun domain family, member 5A"	615732	"Williams Beuren syndrome chromosome region 20A", "NOL1/NOP2/Sun domain family, member 5"	WBSCR20, WBSCR20A		11978965, 12073013	Standard	NM_148956		Approved	NOL1R, p120, (NOL1), FLJ10267, NSUN5A, Ynl022cL	uc011kev.2	Q96P11	OTTHUMG00000129869	ENST00000252594.6:c.930C>T	7.37:g.72718231G>A						NSUN5_ENST00000438747.2_Silent_p.G310G|NSUN5_ENST00000252594.6_Silent_p.G310G|NSUN5_ENST00000310326.8_Silent_p.G310G	p.G272G	NM_001168348.1	NP_001161820.1	Q96P11	NSUN5_HUMAN			7	829	-		Lung NSC(55;0.163)	310					B3KX04|B4DP79|G3V0G9|Q6ZUI8|Q96HT9|Q9NW70	Silent	SNP	ENST00000252594.6	37	c.816C>T	CCDS5547.1																																																																																				0.567	NSUN5-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000252113.1	NM_148956		8	8	0	0	0	1	0	8	8					A	72718231	G	A	72718231	2	1	435	1	0	0	0	0	0	0	0	1	10681	958	34	3		3	NSUN5	7	72718231	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	450802	72718231	86420432	3602	24527											
FZD9	8326	broad.mit.edu	37	chr7	72849210	72849210	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcggtggccggagcgcagagCgtggcctgtgaccaggaggc	6	4	20	11	4	0	2	0	1	0	1	0	4	0	4	3	6	2	1	3	6	0	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:72849210C>T	ENST00000344575.3	+	1	1102	c.873C>T	c.(871-873)agC>agT	p.S291S		NM_003508.2	NP_003499.1	O00144	FZD9_HUMAN	frizzled class receptor 9	291					B cell differentiation (GO:0030183)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|gonad development (GO:0008406)|learning or memory (GO:0007611)|nervous system development (GO:0007399)|neuroblast proliferation (GO:0007405)|vasculature development (GO:0001944)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(4)|prostate(2)|skin(1)	14		Lung NSC(55;0.0659)|all_lung(88;0.152)				GAGCGCAGAGCGTGGCCTGTG	0.637																																					Pancreas(144;909 1878 36867 38226 39554)	ENST00000344575.3																			0				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(4)|prostate(2)|skin(1)	14						c.(871-873)agC>agT		frizzled family receptor 9							107	100	102					7																	72849210		2203	4300	6503	SO:0001819	synonymous_variant	8326				B cell differentiation|brain development|canonical Wnt receptor signaling pathway|embryo development|gonad development|neuroblast proliferation|vasculature development	cell surface|filopodium membrane|integral to membrane|perinuclear region of cytoplasm	G-protein coupled receptor activity|PDZ domain binding|protein heterodimerization activity|protein homodimerization activity|Wnt receptor activity|Wnt-protein binding	g.chr7:72849210C>T	U82169	CCDS5548.1	7q11.23	2014-01-29	2014-01-29		ENSG00000188763	ENSG00000188763		"GPCR / Class F : Frizzled receptors", "CD molecules"	4047	protein-coding gene	gene with protein product		601766	"frizzled (Drosophila) homolog 9", "frizzled homolog 9 (Drosophila)", "frizzled 9, seven transmembrane spanning receptor", "frizzled family receptor 9"			9147651, 10198163	Standard	NM_003508		Approved	FZD3, CD349	uc003tyb.3	O00144	OTTHUMG00000023051	ENST00000344575.3:c.873C>T	7.37:g.72849210C>T							p.S291S	NM_003508.2	NP_003499.1	O00144	FZD9_HUMAN			1	1102	+		Lung NSC(55;0.0659)|all_lung(88;0.152)	291						Silent	SNP	ENST00000344575.3	37	c.873C>T	CCDS5548.1																																																																																				0.637	FZD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252120.1			22	56	0	0	0	1	0	22	56					T	72849210	C	T	72849210	2	4	435	1	0	0	0	0	0	0	0	1	6137	767	27	1		1	FZD9	7	72849210	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	130979	72849210	86289453	3603	24528											
FZD9	8326	broad.mit.edu	37	chr7	72849639	72849639	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcaagatcatgaagacgggCggcaccaacacagagaagct	15	3	12	11	3	1	4	1	1	0	3	1	5	1	4	1	2	2	3	1	2	4	0	rs199498649	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:72849639C>T	ENST00000344575.3	+	1	1531	c.1302C>T	c.(1300-1302)ggC>ggT	p.G434G		NM_003508.2	NP_003499.1	O00144	FZD9_HUMAN	frizzled class receptor 9	434					B cell differentiation (GO:0030183)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|gonad development (GO:0008406)|learning or memory (GO:0007611)|nervous system development (GO:0007399)|neuroblast proliferation (GO:0007405)|vasculature development (GO:0001944)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(4)|prostate(2)|skin(1)	14		Lung NSC(55;0.0659)|all_lung(88;0.152)				TGAAGACGGGCGGCACCAACA	0.587													C|||	2	0.000399361	0	0	5008	,	,		17391	0.002		0	False		,,,				2504	0				Pancreas(144;909 1878 36867 38226 39554)	ENST00000344575.3																			0				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(4)|prostate(2)|skin(1)	14						c.(1300-1302)ggC>ggT		frizzled family receptor 9							57	59	58					7																	72849639		2202	4300	6502	SO:0001819	synonymous_variant	8326				B cell differentiation|brain development|canonical Wnt receptor signaling pathway|embryo development|gonad development|neuroblast proliferation|vasculature development	cell surface|filopodium membrane|integral to membrane|perinuclear region of cytoplasm	G-protein coupled receptor activity|PDZ domain binding|protein heterodimerization activity|protein homodimerization activity|Wnt receptor activity|Wnt-protein binding	g.chr7:72849639C>T	U82169	CCDS5548.1	7q11.23	2014-01-29	2014-01-29		ENSG00000188763	ENSG00000188763		"GPCR / Class F : Frizzled receptors", "CD molecules"	4047	protein-coding gene	gene with protein product		601766	"frizzled (Drosophila) homolog 9", "frizzled homolog 9 (Drosophila)", "frizzled 9, seven transmembrane spanning receptor", "frizzled family receptor 9"			9147651, 10198163	Standard	NM_003508		Approved	FZD3, CD349	uc003tyb.3	O00144	OTTHUMG00000023051	ENST00000344575.3:c.1302C>T	7.37:g.72849639C>T							p.G434G	NM_003508.2	NP_003499.1	O00144	FZD9_HUMAN			1	1531	+		Lung NSC(55;0.0659)|all_lung(88;0.152)	434						Silent	SNP	ENST00000344575.3	37	c.1302C>T	CCDS5548.1																																																																																				0.587	FZD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252120.1			3	19	0	0	0	1	0	3	19					T	72849639	C	T	72849639	2	4	435	1	0	0	0	0	0	0	0	1	6137	755	27	1		1	FZD9	7	72849639	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	429	72849639	86289024	3604	24529											
BAZ1B	9031	broad.mit.edu	37	chr7	72883849	72883849	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atatacagatatactcactgCgaggacagtaatcctcatca	15	10	6	10	1	3	1	3	0	0	1	4	3	4	2	1	1	3	1	1	1	5	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:72883849C>T	ENST00000339594.4	-	9	3202	c.2864G>A	c.(2863-2865)cGc>cAc	p.R955H	BAZ1B_ENST00000404251.1_Missense_Mutation_p.R955H	NM_032408.3	NP_115784.1	Q9UIG0	BAZ1B_HUMAN	bromodomain adjacent to zinc finger domain, 1B	955					cellular response to DNA damage stimulus (GO:0006974)|chromatin assembly or disassembly (GO:0006333)|chromatin-mediated maintenance of transcription (GO:0048096)|double-strand break repair (GO:0006302)|heart morphogenesis (GO:0003007)|histone phosphorylation (GO:0016572)|peptidyl-tyrosine phosphorylation (GO:0018108)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	condensed chromosome (GO:0000793)|nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|histone kinase activity (GO:0035173)|lysine-acetylated histone binding (GO:0070577)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)|vitamin D receptor activator activity (GO:0071884)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(5)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Lung NSC(55;0.0659)|all_lung(88;0.152)				ATACTCACTGCGAGGACAGTA	0.423																																					Esophageal Squamous(112;1167 1561 21085 43672 48228)	ENST00000339594.4																			0				NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(5)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						c.(2863-2865)cGc>cAc		bromodomain adjacent to zinc finger domain, 1B							175	144	154					7																	72883849		2203	4300	6503	SO:0001583	missense	9031				ATP-dependent chromatin remodeling|chromatin-mediated maintenance of transcription|DNA replication-dependent nucleosome disassembly|double-strand break repair|heart morphogenesis|transcription, DNA-dependent	WINAC complex	ATP binding|chromatin binding|histone acetyl-lysine binding|histone kinase activity|non-membrane spanning protein tyrosine kinase activity|protein complex scaffold|vitamin D receptor activator activity|vitamin D receptor binding|zinc ion binding	g.chr7:72883849C>T	AF084479	CCDS5549.1	7q11.23	2013-01-28			ENSG00000009954	ENSG00000009954		"Zinc fingers, PHD-type"	961	protein-coding gene	gene with protein product	"Williams-Beuren syndrome chromosome region 9", "Williams-Beuren syndrome chromosome region 10", "transcription factor WSTF"	605681		WBSCR9, WBSCR10		9858827, 9828126	Standard	NM_032408		Approved	WSTF	uc003tyc.3	Q9UIG0	OTTHUMG00000023847	ENST00000339594.4:c.2864G>A	7.37:g.72883849C>T	ENSP00000342434:p.Arg955His					BAZ1B_ENST00000404251.1_Missense_Mutation_p.R955H	p.R955H	NM_032408.3	NP_115784.1	Q9UIG0	BAZ1B_HUMAN			9	3202	-		Lung NSC(55;0.0659)|all_lung(88;0.152)	955					B9EGK3|D3DXE9|O95039|O95247|O95277|Q6P1K4|Q86UJ6	Missense_Mutation	SNP	ENST00000339594.4	37	c.2864G>A	CCDS5549.1	.	.	.	.	.	.	.	.	.	.	C	15.30	2.793039	0.50102	.	.	ENSG00000009954	ENST00000339594;ENST00000404251	T;T	0.58940	0.3;0.3	5.21	5.21	0.72293	.	0.296894	0.34025	N	0.004322	T	0.45377	0.1339	N	0.14661	0.345	0.23232	N	0.998078	D	0.56287	0.975	P	0.45232	0.474	T	0.45731	-0.9241	10	0.46703	T	0.11	-7.2978	15.6236	0.76829	0.0:1.0:0.0:0.0	.	955	Q9UIG0	BAZ1B_HUMAN	H	955	ENSP00000342434:R955H;ENSP00000385442:R955H	ENSP00000342434:R955H	R	-	2	0	BAZ1B	72521785	0.914000	0.31030	0.822000	0.32727	0.922000	0.55478	1.310000	0.33551	2.723000	0.93209	0.655000	0.94253	CGC		0.423	BAZ1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252123.4	NM_032408		10	40	0	0	0	1	0	10	40					T	72883849	C	T	72883849	3	4	435	1	0	0	0	0	1	0	0	0	1330	768	27	1	1631	1	BAZ1B	7	72883849	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	34210	72883849	86254814	3605	24530											
BAZ1B	9031	broad.mit.edu	37	chr7	72903642	72903642	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagctcgtaatgcattatgcCgtataaagtatcgaactatc	13	12	7	9	3	0	0	0	0	0	0	3	1	0	0	1	0	4	5	1	0	8	6			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:72903642C>T	ENST00000339594.4	-	6	1111	c.773G>A	c.(772-774)cGg>cAg	p.R258Q	BAZ1B_ENST00000404251.1_Missense_Mutation_p.R258Q	NM_032408.3	NP_115784.1	Q9UIG0	BAZ1B_HUMAN	bromodomain adjacent to zinc finger domain, 1B	258	Mediates the tyrosine-protein kinase activity.				cellular response to DNA damage stimulus (GO:0006974)|chromatin assembly or disassembly (GO:0006333)|chromatin-mediated maintenance of transcription (GO:0048096)|double-strand break repair (GO:0006302)|heart morphogenesis (GO:0003007)|histone phosphorylation (GO:0016572)|peptidyl-tyrosine phosphorylation (GO:0018108)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	condensed chromosome (GO:0000793)|nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|histone kinase activity (GO:0035173)|lysine-acetylated histone binding (GO:0070577)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)|vitamin D receptor activator activity (GO:0071884)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(5)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Lung NSC(55;0.0659)|all_lung(88;0.152)				TGCATTATGCCGTATAAAGTA	0.423																																					Esophageal Squamous(112;1167 1561 21085 43672 48228)	ENST00000339594.4																			0				NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(5)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						c.(772-774)cGg>cAg		bromodomain adjacent to zinc finger domain, 1B							165	147	153					7																	72903642		2203	4300	6503	SO:0001583	missense	9031				ATP-dependent chromatin remodeling|chromatin-mediated maintenance of transcription|DNA replication-dependent nucleosome disassembly|double-strand break repair|heart morphogenesis|transcription, DNA-dependent	WINAC complex	ATP binding|chromatin binding|histone acetyl-lysine binding|histone kinase activity|non-membrane spanning protein tyrosine kinase activity|protein complex scaffold|vitamin D receptor activator activity|vitamin D receptor binding|zinc ion binding	g.chr7:72903642C>T	AF084479	CCDS5549.1	7q11.23	2013-01-28			ENSG00000009954	ENSG00000009954		"Zinc fingers, PHD-type"	961	protein-coding gene	gene with protein product	"Williams-Beuren syndrome chromosome region 9", "Williams-Beuren syndrome chromosome region 10", "transcription factor WSTF"	605681		WBSCR9, WBSCR10		9858827, 9828126	Standard	NM_032408		Approved	WSTF	uc003tyc.3	Q9UIG0	OTTHUMG00000023847	ENST00000339594.4:c.773G>A	7.37:g.72903642C>T	ENSP00000342434:p.Arg258Gln					BAZ1B_ENST00000404251.1_Missense_Mutation_p.R258Q	p.R258Q	NM_032408.3	NP_115784.1	Q9UIG0	BAZ1B_HUMAN			6	1111	-		Lung NSC(55;0.0659)|all_lung(88;0.152)	258			Mediates the tyrosine-protein kinase activity.		B9EGK3|D3DXE9|O95039|O95247|O95277|Q6P1K4|Q86UJ6	Missense_Mutation	SNP	ENST00000339594.4	37	c.773G>A	CCDS5549.1	.	.	.	.	.	.	.	.	.	.	C	36	5.974527	0.97162	.	.	ENSG00000009954	ENST00000339594;ENST00000404251	T;T	0.74209	-0.82;-0.82	5.88	5.88	0.94601	.	0.000000	0.85682	D	0.000000	T	0.81997	0.4941	L	0.36672	1.1	0.58432	D	0.999999	D	0.89917	1.0	D	0.79108	0.992	T	0.82752	-0.0302	10	0.72032	D	0.01	-17.8904	19.2257	0.93817	0.0:1.0:0.0:0.0	.	258	Q9UIG0	BAZ1B_HUMAN	Q	258	ENSP00000342434:R258Q;ENSP00000385442:R258Q	ENSP00000342434:R258Q	R	-	2	0	BAZ1B	72541578	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.231000	0.78106	2.790000	0.95986	0.655000	0.94253	CGG		0.423	BAZ1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252123.4	NM_032408		29	58	0	0	0	1	0	29	58					T	72903642	C	T	72903642	3	4	435	1	0	0	0	0	1	0	0	0	1330	652	23	2	3734	2	BAZ1B	7	72903642	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	19793	72903642	86235021	3606	24531											
MLXIPL	51085	broad.mit.edu	37	chr7	73010560	73010560	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagcttgatgttgaagcgccGcttctgctccgcggagatgt	6	11	13	11	4	1	3	0	2	1	1	2	4	2	3	2	1	3	4	2	1	1	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:73010560G>A	ENST00000313375.3	-	13	2028	c.1981C>T	c.(1981-1983)Cgg>Tgg	p.R661W	MLXIPL_ENST00000354613.1_Missense_Mutation_p.R659W|MLXIPL_ENST00000395189.1_Missense_Mutation_p.R568W|MLXIPL_ENST00000429400.2_Missense_Mutation_p.R661W|MLXIPL_ENST00000414749.2_Missense_Mutation_p.R659W|MLXIPL_ENST00000434326.1_Missense_Mutation_p.R567W	NM_032951.2|NM_032953.2	NP_116569.1|NP_116571.1	Q9NP71	MLXPL_HUMAN	MLX interacting protein-like	661	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				anatomical structure morphogenesis (GO:0009653)|energy reserve metabolic process (GO:0006112)|fatty acid homeostasis (GO:0055089)|glucose homeostasis (GO:0042593)|glucose mediated signaling pathway (GO:0010255)|intracellular signal transduction (GO:0035556)|negative regulation of cell cycle arrest (GO:0071157)|negative regulation of oxidative phosphorylation (GO:0090324)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cellular metabolic process (GO:0031325)|positive regulation of fatty acid biosynthetic process (GO:0045723)|positive regulation of glycolytic process (GO:0045821)|positive regulation of lipid biosynthetic process (GO:0046889)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of energy homeostasis (GO:2000505)|regulation of fatty acid biosynthetic process (GO:0042304)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|triglyceride homeostasis (GO:0070328)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	carbohydrate response element binding (GO:0035538)|DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			cervix(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	13		Lung NSC(55;0.0659)|all_lung(88;0.152)				TTGAAGCGCCGCTTCTGCTCC	0.647																																						ENST00000313375.3																			0				cervix(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	13						c.(1981-1983)Cgg>Tgg		MLX interacting protein-like							85	84	84					7																	73010560		2203	4300	6503	SO:0001583	missense	51085				anatomical structure morphogenesis|energy reserve metabolic process|glucose mediated signaling pathway|intracellular protein kinase cascade|negative regulation of cell cycle arrest|negative regulation of oxidative phosphorylation|negative regulation of peptidyl-serine phosphorylation|positive regulation of cell proliferation|positive regulation of fatty acid biosynthetic process|positive regulation of glycolysis|positive regulation of transcription from RNA polymerase II promoter|triglyceride homeostasis	cytosol|transcription factor complex	carbohydrate response element binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding	g.chr7:73010560G>A	AK055029	CCDS5553.1, CCDS5554.1, CCDS47605.1, CCDS47606.1	7q11.23	2013-05-21	2005-10-31	2005-10-31	ENSG00000009950	ENSG00000009950			12744	protein-coding gene	gene with protein product	"carbohydrate response element binding protein"	605678	"Williams Beuren syndrome chromosome region 14"	WBSCR14		9860302	Standard	XM_005250399		Approved	WS-bHLH, MIO, CHREBP, MONDOB, bHLHd14	uc003tyn.1	Q9NP71	OTTHUMG00000129995	ENST00000313375.3:c.1981C>T	7.37:g.73010560G>A	ENSP00000320886:p.Arg661Trp					MLXIPL_ENST00000395189.1_Missense_Mutation_p.R568W|MLXIPL_ENST00000429400.2_Missense_Mutation_p.R661W|MLXIPL_ENST00000354613.1_Missense_Mutation_p.R659W|MLXIPL_ENST00000434326.1_Missense_Mutation_p.R567W|MLXIPL_ENST00000414749.2_Missense_Mutation_p.R659W	p.R661W	NM_032951.2|NM_032953.2	NP_116569.1|NP_116571.1	Q9NP71	WBS14_HUMAN			13	2028	-		Lung NSC(55;0.0659)|all_lung(88;0.152)	661					C5HU02|C5HU03|C5HU04|Q96E48|Q9BY03|Q9BY04|Q9BY05|Q9BY06|Q9Y2P3	Missense_Mutation	SNP	ENST00000313375.3	37	c.1981C>T	CCDS5553.1	.	.	.	.	.	.	.	.	.	.	G	17.07	3.294661	0.60086	.	.	ENSG00000009950	ENST00000414749;ENST00000429400;ENST00000313375;ENST00000354613;ENST00000395189;ENST00000434326	D;D;D;D;D;D	0.99771	-6.53;-6.71;-6.53;-6.71;-6.53;-6.53	5.38	2.46	0.29980	.	0.000000	0.64402	D	0.000001	D	0.99782	0.9909	M	0.92738	3.34	0.40120	D	0.976593	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;1.0;0.999;1.0;1.0	D	0.98183	1.0458	10	0.87932	D	0	-25.9854	12.6308	0.56657	0.0:0.0:0.5681:0.4319	.	568;661;661;659;659	Q9NP71-6;Q9NP71;Q9NP71-2;Q9NP71-3;Q9NP71-4	.;MLXPL_HUMAN;.;.;.	W	659;661;661;659;568;567	ENSP00000412330:R659W;ENSP00000406296:R661W;ENSP00000320886:R661W;ENSP00000346629:R659W;ENSP00000378616:R568W;ENSP00000392636:R567W	ENSP00000320886:R661W	R	-	1	2	MLXIPL	72648496	1.000000	0.71417	0.998000	0.56505	0.602000	0.36980	0.830000	0.27462	0.207000	0.20607	0.558000	0.71614	CGG		0.647	MLXIPL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252262.1	NM_032951		32	61	0	0	0	1	0	32	61					A	73010560	G	A	73010560	3	1	435	1	0	0	0	0	1	0	0	0	9637	1086	38	1	597	1	MLXIPL	7	73010560	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	106918	73010560	86128103	3607	24532											
DNAJC30	84277	broad.mit.edu	37	chr7	73097608	73097608	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgccgagcagatcatacagcGccgtgcgcgaatacgagcag	11	4	13	13	7	1	1	1	0	0	1	1	4	1	1	2	0	6	2	2	0	3	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:73097608G>A	ENST00000395176.2	-	1	175	c.146C>T	c.(145-147)gCg>gTg	p.A49V	WBSCR22_ENST00000423497.1_5'Flank|WBSCR22_ENST00000265758.2_5'Flank|WBSCR22_ENST00000464615.1_3'UTR|WBSCR22_ENST00000423166.2_5'Flank	NM_032317.2	NP_115693.2	Q96LL9	DJC30_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 30	49	J. {ECO:0000255|PROSITE- ProRule:PRU00286}.					mitochondrion (GO:0005739)				kidney(1)|large_intestine(2)|lung(1)	4						ATCATACAGCGCCGTGCGCGA	0.612																																						ENST00000395176.2																			0				kidney(1)|large_intestine(2)|lung(1)	4						c.(145-147)gCg>gTg		DnaJ (Hsp40) homolog, subfamily C, member 30							90	103	99					7																	73097608		2200	4294	6494	SO:0001583	missense	84277				protein folding		heat shock protein binding|unfolded protein binding	g.chr7:73097608G>A	AF412025	CCDS5556.1	7q11.23	2011-09-02	2008-06-17	2008-06-17	ENSG00000176410	ENSG00000176410		"Heat shock proteins / DNAJ (HSP40)"	16410	protein-coding gene	gene with protein product			"Williams Beuren syndrome chromosome region 18"	WBSCR18		12073013	Standard	NM_032317		Approved		uc003tys.1	Q96LL9	OTTHUMG00000023290	ENST00000395176.2:c.146C>T	7.37:g.73097608G>A	ENSP00000378605:p.Ala49Val					WBSCR22_ENST00000464615.1_3'UTR	p.A49V	NM_032317.2	NP_115693.2	Q96LL9	DJC30_HUMAN			1	175	-			49			J.		Q9BSG8	Missense_Mutation	SNP	ENST00000395176.2	37	c.146C>T	CCDS5556.1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.347055	0.82022	.	.	ENSG00000176410	ENST00000395176;ENST00000539255	T	0.73363	-0.74	5.26	3.41	0.39046	Heat shock protein DnaJ, N-terminal (4);	0.293194	0.25117	N	0.033006	T	0.77785	0.4182	L	0.32530	0.975	0.80722	D	1	D	0.89917	1.0	D	0.78314	0.991	T	0.75196	-0.3403	10	0.39692	T	0.17	-9.2903	12.2567	0.54627	0.0:0.0:0.6916:0.3084	.	49	Q96LL9	DJC30_HUMAN	V	49;46	ENSP00000378605:A49V	ENSP00000378605:A49V	A	-	2	0	DNAJC30	72735544	0.999000	0.42202	0.999000	0.59377	0.463000	0.32649	2.205000	0.42770	0.741000	0.32674	0.655000	0.94253	GCG		0.612	DNAJC30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252304.2			5	88	0	0	0	1	0	5	88					A	73097608	G	A	73097608	3	1	435	1	0	0	0	0	1	0	0	0	4648	1087	38	1	538	1	DNAJC30	7	73097608	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	87048	73097608	86041055	3608	24533											
STX1A	6804	broad.mit.edu	37	chr7	73123392	73123392	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cacctgctcaaagaactcatCcatgaagcggtctcggtcca	11	8	8	14	2	3	2	2	1	1	1	6	2	5	2	3	2	3	1	3	2	3	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:73123392C>T	ENST00000222812.3	-	2	117	c.91G>A	c.(91-93)Gat>Aat	p.D31N	STX1A_ENST00000395154.3_Missense_Mutation_p.D31N|MIR4284_ENST00000578924.1_RNA|STX1A_ENST00000395155.3_Missense_Mutation_p.D31N|STX1A_ENST00000395156.3_Missense_Mutation_p.D31N	NM_004603.3	NP_004594.1	Q16623	STX1A_HUMAN	syntaxin 1A (brain)	31					calcium ion-dependent exocytosis (GO:0017156)|cellular protein metabolic process (GO:0044267)|energy reserve metabolic process (GO:0006112)|glutamate secretion (GO:0014047)|intracellular protein transport (GO:0006886)|neurotransmitter secretion (GO:0007269)|positive regulation of exocytosis (GO:0045921)|positive regulation of neurotransmitter secretion (GO:0001956)|regulation of insulin secretion (GO:0050796)|response to gravity (GO:0009629)|secretion by cell (GO:0032940)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|synaptic vesicle docking involved in exocytosis (GO:0016081)	actomyosin (GO:0042641)|cell junction (GO:0030054)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)|SNARE complex (GO:0031201)|synaptic vesicle membrane (GO:0030672)|synaptobrevin 2-SNAP-25-syntaxin-1a complex (GO:0070044)|synaptobrevin 2-SNAP-25-syntaxin-1a-complexin I complex (GO:0070032)|synaptobrevin 2-SNAP-25-syntaxin-1a-complexin II complex (GO:0070033)	calcium channel inhibitor activity (GO:0019855)			large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	5		Lung NSC(55;0.0908)|all_lung(88;0.198)				AAGAACTCATCCATGAAGCGG	0.587																																						ENST00000222812.3																			0				large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	5						c.(91-93)Gat>Aat		syntaxin 1A (brain)							220	179	193					7																	73123392		2203	4300	6503	SO:0001583	missense	6804				energy reserve metabolic process|glutamate secretion|intracellular protein transport|regulation of insulin secretion	cell junction|extracellular region|integral to membrane|neuron projection|synaptic vesicle membrane|synaptosome	SNAP receptor activity	g.chr7:73123392C>T		CCDS34655.1, CCDS55120.1	7q11.2	2008-07-18			ENSG00000106089	ENSG00000106089			11433	protein-coding gene	gene with protein product		186590		STX1		1321498	Standard	NM_001165903		Approved	HPC-1, p35-1	uc003tyx.3	Q16623	OTTHUMG00000137422	ENST00000222812.3:c.91G>A	7.37:g.73123392C>T	ENSP00000222812:p.Asp31Asn					STX1A_ENST00000395156.3_Missense_Mutation_p.D31N|STX1A_ENST00000395154.3_Missense_Mutation_p.D31N|STX1A_ENST00000395155.3_Missense_Mutation_p.D31N	p.D31N	NM_004603.3	NP_004594.1	Q16623	STX1A_HUMAN			2	117	-		Lung NSC(55;0.0908)|all_lung(88;0.198)	31					O15447|O15448|Q12936|Q75MD9|Q7Z5K3|Q9BPZ6	Missense_Mutation	SNP	ENST00000222812.3	37	c.91G>A	CCDS34655.1	.	.	.	.	.	.	.	.	.	.	C	19.88	3.908336	0.72868	.	.	ENSG00000106089	ENST00000428377;ENST00000222812;ENST00000395156;ENST00000395154;ENST00000395155	T;T;T;T	0.22336	1.96;1.96;1.96;1.96	4.87	4.87	0.63330	t-SNARE (1);Syntaxin, N-terminal (2);	0.162857	0.52532	D	0.000079	T	0.25680	0.0625	M	0.64404	1.975	0.80722	D	1	B;B;B	0.27700	0.186;0.075;0.034	B;B;B	0.27715	0.082;0.049;0.027	T	0.04855	-1.0922	10	0.51188	T	0.08	-31.3071	15.5246	0.75894	0.0:1.0:0.0:0.0	.	31;31;31	Q7Z5K3;Q16623-3;Q16623	.;.;STX1A_HUMAN	N	31	ENSP00000222812:D31N;ENSP00000378585:D31N;ENSP00000378583:D31N;ENSP00000378584:D31N	ENSP00000222812:D31N	D	-	1	0	STX1A	72761328	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.847000	0.69451	2.258000	0.74832	0.561000	0.74099	GAT		0.587	STX1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268422.1	NM_004603		47	55	0	0	0	1	0	47	55					T	73123392	C	T	73123392	3	4	435	1	0	0	0	0	1	0	0	0	15342	855	30	3	811	3	STX1A	7	73123392	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	25784	73123392	86015271	3609	24534											
ABHD11	83451	broad.mit.edu	37	chr7	73151925	73151925	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcagcatggctgtctttccTcccatgctgtggccaacgac	7	10	10	14	1	1	0	0	0	1	0	3	1	3	0	3	2	4	4	3	2	1	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:73151925T>C	ENST00000222800.3	-	3	498	c.429A>G	c.(427-429)ggA>ggG	p.G143G	LINC00035_ENST00000427153.1_RNA|ABHD11_ENST00000395147.4_Silent_p.G143G|ABHD11_ENST00000458339.1_Silent_p.G143G|ABHD11_ENST00000468998.1_5'Flank|ABHD11_ENST00000437775.2_Silent_p.G136G	NM_148912.2	NP_683710.1	Q8NFV4	ABHDB_HUMAN	abhydrolase domain containing 11	143						mitochondrion (GO:0005739)	hydrolase activity (GO:0016787)			breast(1)|endometrium(1)|large_intestine(1)|lung(1)	4		Lung NSC(55;0.0908)|all_lung(88;0.198)				CTGTCTTTCCTCCCATGCTGT	0.622																																						ENST00000222800.3																			0				breast(1)|endometrium(1)|large_intestine(1)|lung(1)	4						c.(427-429)ggA>ggG		abhydrolase domain containing 11							46	38	41					7																	73151925		2203	4300	6503	SO:0001819	synonymous_variant	83451						hydrolase activity	g.chr7:73151925T>C	AF217971	CCDS5558.1, CCDS47607.1, CCDS47608.1, CCDS75615.1	7q11.23	2010-08-05	2005-01-24	2005-01-27	ENSG00000106077	ENSG00000106077		"Abhydrolase domain containing"	16407	protein-coding gene	gene with protein product			"Williams Beuren syndrome chromosome region 21"	WBSCR21		12073013	Standard	NR_026910		Approved	PP1226	uc003tzb.3	Q8NFV4	OTTHUMG00000130029	ENST00000222800.3:c.429A>G	7.37:g.73151925T>C						ABHD11_ENST00000437775.2_Silent_p.G136G|ABHD11_ENST00000458339.1_Silent_p.G143G|ABHD11_ENST00000395147.4_Silent_p.G143G	p.G143G	NM_148912.2	NP_683710.1	Q8NFV4	ABHDB_HUMAN			3	498	-		Lung NSC(55;0.0908)|all_lung(88;0.198)	143					H7BYM8|Q6PJU0|Q8N722|Q8N723|Q8NFV2|Q8NFV3|Q9HBS8	Silent	SNP	ENST00000222800.3	37	c.429A>G	CCDS5558.1																																																																																				0.622	ABHD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252306.1			5	14	0	0	0	1	0	5	14					C	73151925	T	C	73151925	2	2	435	1	0	0	0	0	0	0	0	1	75	1538	54	4		4	ABHD11	7	73151925	Silent	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	28533	73151925	85986738	3610	24535											
ELN	2006	broad.mit.edu	37	chr7	73474488	73474488	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	agctgcagcaaaatccgctgCcaaggtggctgccaaagccc	11	5	11	14	1	0	0	0	0	0	0	1	0	1	0	4	2	6	5	4	2	4	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:73474488C>T	ENST00000252034.7	+	24	1994	c.1595C>T	c.(1594-1596)gCc>gTc	p.A532V	ELN_ENST00000429192.1_Missense_Mutation_p.A518V|ELN_ENST00000458204.1_Missense_Mutation_p.A522V|ELN_ENST00000414324.1_Missense_Mutation_p.A508V|CTB-51J22.1_ENST00000435932.1_RNA|ELN_ENST00000358929.4_Missense_Mutation_p.A567V|ELN_ENST00000380584.4_Intron|ELN_ENST00000380575.4_Missense_Mutation_p.A503V|ELN_ENST00000357036.5_Missense_Mutation_p.A537V|ELN_ENST00000445912.1_Missense_Mutation_p.A532V|ELN_ENST00000380553.4_Missense_Mutation_p.A396V|ELN_ENST00000320399.6_Missense_Mutation_p.A532V|ELN_ENST00000380562.4_Missense_Mutation_p.A538V|ELN_ENST00000380576.5_Missense_Mutation_p.A513V|ELN_ENST00000320492.7_Missense_Mutation_p.A451V	NM_000501.2|NM_001278915.1	NP_000492.2|NP_001265844.1	P15502	ELN_HUMAN	elastin	0	Ala-rich.				blood circulation (GO:0008015)|blood vessel remodeling (GO:0001974)|cell proliferation (GO:0008283)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|organ morphogenesis (GO:0009887)|regulation of actin filament polymerization (GO:0030833)|respiratory gaseous exchange (GO:0007585)|skeletal muscle tissue development (GO:0007519)|stress fiber assembly (GO:0043149)	elastic fiber (GO:0071953)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix binding (GO:0050840)|extracellular matrix constituent conferring elasticity (GO:0030023)|extracellular matrix structural constituent (GO:0005201)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(4)|pancreas(2)|prostate(1)|skin(2)|stomach(1)	32		Lung NSC(55;0.159)				AAATCCGCTGCCAAGGTGGCT	0.627			T	PAX5	B-ALL		"Supravalvular Aortic Stenosis, Cutis laxa , Williams-Beuren Syndrome"																															ENST00000252034.7				Dom	yes		7	7q11.23	2006	T	elastin	yes	"Supravalvular Aortic Stenosis, Cutis laxa , Williams-Beuren Syndrome"	L	PAX5		B-ALL		0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(4)|pancreas(2)|prostate(1)|skin(2)|stomach(1)	32						c.(1594-1596)gCc>gTc		elastin	Rofecoxib(DB00533)						79	86	83					7																	73474488		2203	4300	6503	SO:0001583	missense	2006				blood circulation|cell proliferation|organ morphogenesis|respiratory gaseous exchange	proteinaceous extracellular matrix	extracellular matrix constituent conferring elasticity|protein binding	g.chr7:73474488C>T		CCDS5562.2, CCDS43598.1, CCDS43599.1, CCDS47611.1, CCDS47612.1, CCDS64673.1, CCDS64674.1, CCDS64675.1, CCDS64676.1, CCDS64677.1, CCDS64678.1, CCDS75616.1, CCDS75617.1	7q11.1-q21.1	2008-08-01	2008-08-01		ENSG00000049540	ENSG00000049540			3327	protein-coding gene	gene with protein product	"tropoelastin", "supravalvular aortic stenosis", "Williams-Beuren syndrome"	130160				8096434	Standard	NM_001278939		Approved	WBS, WS, SVAS	uc003tzn.3	P15502	OTTHUMG00000150229	ENST00000252034.7:c.1595C>T	7.37:g.73474488C>T	ENSP00000252034:p.Ala532Val					CTB-51J22.1_ENST00000435932.1_RNA|ELN_ENST00000458204.1_Missense_Mutation_p.A522V|ELN_ENST00000380562.4_Missense_Mutation_p.A538V|ELN_ENST00000380553.4_Missense_Mutation_p.A396V|ELN_ENST00000320492.7_Missense_Mutation_p.A451V|ELN_ENST00000380576.5_Missense_Mutation_p.A513V|ELN_ENST00000414324.1_Missense_Mutation_p.A508V|ELN_ENST00000429192.1_Missense_Mutation_p.A518V|ELN_ENST00000358929.4_Missense_Mutation_p.A567V|ELN_ENST00000357036.5_Missense_Mutation_p.A537V|ELN_ENST00000320399.6_Missense_Mutation_p.A532V|ELN_ENST00000445912.1_Missense_Mutation_p.A532V|ELN_ENST00000380584.4_Intron|ELN_ENST00000380575.4_Missense_Mutation_p.A503V	p.A532V	NM_000501.2	NP_000492.2	P15502	ELN_HUMAN			24	1994	+		Lung NSC(55;0.159)	561			Ala-rich.		B3KTS6|O15336|O15337|Q14233|Q14234|Q14235|Q14238|Q6P0L4|Q6ZWJ6|Q75MU5|Q7Z316|Q7Z3F5|Q9UMF5	Missense_Mutation	SNP	ENST00000252034.7	37	c.1595C>T	CCDS5562.2	.	.	.	.	.	.	.	.	.	.	C	16.90	3.250350	0.59212	.	.	ENSG00000049540	ENST00000445912;ENST00000252034;ENST00000358929;ENST00000320492;ENST00000414324;ENST00000380562;ENST00000380575;ENST00000458204;ENST00000357036;ENST00000429192;ENST00000442462;ENST00000380553;ENST00000380576;ENST00000320399	T;T;T;T;T;T;T;T;T;T;T;T;T	0.38887	1.17;1.14;1.3;1.28;1.16;1.22;1.37;1.14;1.11;1.19;1.2;1.16;1.16	4.41	3.52	0.40303	.	.	.	.	.	T	0.29652	0.0740	.	.	.	0.25279	N	0.989458	B;B;B;B;B;B;B;B;P;P;B;B	0.35745	0.27;0.27;0.27;0.27;0.27;0.27;0.27;0.27;0.518;0.518;0.27;0.27	B;B;B;B;B;B;B;B;B;B;B;B	0.32533	0.147;0.147;0.147;0.147;0.147;0.147;0.147;0.147;0.147;0.147;0.147;0.147	T	0.16748	-1.0392	8	0.66056	D	0.02	-13.5405	7.7082	0.28663	0.0:0.8876:0.0:0.1124	.	532;451;508;522;538;503;518;537;513;396;443;532	E7ENM0;G5E950;G3V0G6;E7EN65;P15502-1;P15502-7;P15502-12;P15502-5;P15502-13;P15502-11;B3KRT8;P15502-2	.;.;.;.;.;.;.;.;.;.;.;.	V	532;532;567;451;508;538;503;522;537;518;471;396;513;532	ENSP00000389857:A532V;ENSP00000252034:A532V;ENSP00000351807:A567V;ENSP00000315607:A451V;ENSP00000392575:A508V;ENSP00000369936:A538V;ENSP00000369949:A503V;ENSP00000403162:A522V;ENSP00000349540:A537V;ENSP00000391129:A518V;ENSP00000369926:A396V;ENSP00000369950:A513V;ENSP00000313565:A532V	ENSP00000252034:A532V	A	+	2	0	ELN	73112424	0.397000	0.25270	0.760000	0.31359	0.293000	0.27360	1.368000	0.34216	2.474000	0.83562	0.644000	0.83932	GCC		0.627	ELN-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000316913.1	NM_000501		26	31	0	0	0	1	0	26	31					T	73474488	C	T	73474488	3	4	435	1	0	0	0	0	1	0	0	0	5071	739	26	3	1704	3	ELN	7	73474488	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	322563	73474488	85664175	3611	24536											
LIMK1	3984	broad.mit.edu	37	chr7	73511051	73511051	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gcccgctatggcgagtcctgCcatgggtgctctgagcaaat	7	9	13	12	2	1	1	0	1	1	0	2	2	2	1	3	2	3	3	3	2	2	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:73511051C>T	ENST00000336180.2	+	3	303	c.252C>T	c.(250-252)tgC>tgT	p.C84C	LIMK1_ENST00000418310.1_Silent_p.C114C|LIMK1_ENST00000538333.3_Silent_p.C50C|LIMK1_ENST00000491052.1_3'UTR	NM_002314.3	NP_002305.1	P53667	LIMK1_HUMAN	LIM domain kinase 1	84	LIM zinc-binding 2. {ECO:0000255|PROSITE- ProRule:PRU00125}.				actin cytoskeleton organization (GO:0030036)|axon guidance (GO:0007411)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|negative regulation of ubiquitin-protein transferase activity (GO:0051444)|nervous system development (GO:0007399)|positive regulation of actin filament bundle assembly (GO:0032233)|positive regulation of axon extension (GO:0045773)|positive regulation of stress fiber assembly (GO:0051496)|protein phosphorylation (GO:0006468)|Rho protein signal transduction (GO:0007266)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|neuron projection (GO:0043005)|nucleus (GO:0005634)	ATP binding (GO:0005524)|heat shock protein binding (GO:0031072)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	21		Lung NSC(55;0.137)			Dabrafenib(DB08912)	GCGAGTCCTGCCATGGGTGCT	0.592																																						ENST00000418310.1																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	21						c.(340-342)tgC>tgT		LIM domain kinase 1							78	75	76					7																	73511051		2203	4300	6503	SO:0001819	synonymous_variant	3984				actin cytoskeleton organization|axon guidance|negative regulation of ubiquitin-protein ligase activity|positive regulation of actin filament bundle assembly|positive regulation of axon extension|Rho protein signal transduction	cytosol|growth cone|nucleus	ATP binding|heat shock protein binding|protein serine/threonine kinase activity|zinc ion binding	g.chr7:73511051C>T	D26309	CCDS5563.1, CCDS56491.1	7q11.23	2005-01-21			ENSG00000106683	ENSG00000106683			6613	protein-coding gene	gene with protein product		601329				8673124, 8812460	Standard	NM_002314		Approved	LIMK	uc003uaa.2	P53667	OTTHUMG00000023448	ENST00000336180.2:c.252C>T	7.37:g.73511051C>T						LIMK1_ENST00000538333.3_Silent_p.C50C|LIMK1_ENST00000491052.1_3'UTR|LIMK1_ENST00000336180.2_Silent_p.C84C	p.C114C			P53667	LIMK1_HUMAN			3	444	+		Lung NSC(55;0.137)	84			LIM zinc-binding 2.		B7Z6I8|D3DXF4|D3DXF5|O15283|Q15820|Q15821|Q75MU3|Q9Y5Q1	Silent	SNP	ENST00000336180.2	37	c.342C>T	CCDS5563.1																																																																																				0.592	LIMK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252335.2	NM_002314		12	26	0	0	0	1	0	12	26					T	73511051	C	T	73511051	2	4	435	1	0	0	0	0	0	0	0	1	8801	747	26	3		3	LIMK1	7	73511051	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	36563	73511051	85627612	3612	24537											
CLIP2	7461	broad.mit.edu	37	chr7	73795146	73795146	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctttttgcagatgattgagtCgaatgacatttcagaggaga	12	13	11	5	1	1	6	1	3	0	3	2	8	1	6	0	1	1	1	0	1	1	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:73795146C>T	ENST00000395060.1	+	10	2432	c.2432C>T	c.(2431-2433)tCg>tTg	p.S811L	CLIP2_ENST00000361545.5_Missense_Mutation_p.S776L|CLIP2_ENST00000223398.6_Missense_Mutation_p.S811L			Q9UDT6	CLIP2_HUMAN	CAP-GLY domain containing linker protein 2	811						cytoplasmic microtubule (GO:0005881)|microtubule associated complex (GO:0005875)|microtubule plus-end (GO:0035371)				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|pancreas(1)|prostate(2)|skin(3)	30						ATGATTGAGTCGAATGACATT	0.607																																						ENST00000223398.6																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|pancreas(1)|prostate(2)|skin(3)	30						c.(2431-2433)tCg>tTg		CAP-GLY domain containing linker protein 2							105	108	107					7																	73795146		2203	4300	6503	SO:0001583	missense	7461					microtubule associated complex		g.chr7:73795146C>T	AB006629	CCDS5569.1, CCDS5570.1	7q11.23	2008-06-12	2007-01-04	2007-01-04	ENSG00000106665	ENSG00000106665			2586	protein-coding gene	gene with protein product		603432	"cytoplasmic linker 2", "Williams-Beuren syndrome chromosome region 3"	WBSCR4, CYLN2, WBSCR3		8812460, 9799601	Standard	NM_003388		Approved	CLIP-115, KIAA0291, WSCR4, CLIP, WSCR3	uc003uam.3	Q9UDT6	OTTHUMG00000022980	ENST00000395060.1:c.2432C>T	7.37:g.73795146C>T	ENSP00000378500:p.Ser811Leu					CLIP2_ENST00000395060.1_Missense_Mutation_p.S811L|CLIP2_ENST00000361545.5_Missense_Mutation_p.S776L	p.S811L	NM_003388.4	NP_003379.3	Q9UDT6	CLIP2_HUMAN			11	2759	+			811					O14527|O43611	Missense_Mutation	SNP	ENST00000395060.1	37	c.2432C>T	CCDS5569.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	7.212|7.212	0.595715|0.595715	0.13875|0.13875	.|.	.|.	ENSG00000106665|ENSG00000106665	ENST00000493166|ENST00000539676;ENST00000223398;ENST00000361545;ENST00000395060	.|T;T;T	.|0.59364	.|0.27;0.28;0.27	4.44|4.44	4.44|4.44	0.53790|0.53790	.|.	.|0.646604	.|0.15298	.|N	.|0.269780	.|T	.|0.33673	.|0.0871	N|N	0.24115|0.24115	0.695|0.695	0.09310|0.09310	N|N	1|1	.|P;P;P	.|0.39737	.|0.645;0.685;0.557	.|B;B;B	.|0.25614	.|0.062;0.062;0.041	.|T	.|0.20306	.|-1.0279	.|10	.|0.06236	.|T	.|0.91	-6.8122|-6.8122	13.9888|13.9888	0.64353|0.64353	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|776;776;811	.|A7E2F7;Q9UDT6-2;Q9UDT6	.|.;.;CLIP2_HUMAN	X|L	47|811;811;776;811	.|ENSP00000223398:S811L;ENSP00000355151:S776L;ENSP00000378500:S811L	.|ENSP00000223398:S811L	R|S	+|+	1|2	2|0	CLIP2|CLIP2	73433082|73433082	0.996000|0.996000	0.38824|0.38824	0.177000|0.177000	0.23020|0.23020	0.359000|0.359000	0.29487|0.29487	3.997000|3.997000	0.57016|0.57016	2.310000|2.310000	0.77875|0.77875	0.644000|0.644000	0.83932|0.83932	CGA|TCG		0.607	CLIP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252556.1	NM_003388		55	76	0	0	0	1	0	55	76					T	73795146	C	T	73795146	3	4	435	1	0	0	0	0	1	0	0	0	3533	893	31	2	2470	2	CLIP2	7	73795146	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	284095	73795146	85343517	3613	24538											
CLIP2	7461	broad.mit.edu	37	chr7	73811444	73811444	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgttgctgctggaggccaatCgtcactccccagggccggag	6	8	14	13	2	1	0	1	0	0	0	3	2	2	2	4	4	2	3	4	4	1	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:73811444C>T	ENST00000395060.1	+	13	2761	c.2761C>T	c.(2761-2763)Cgt>Tgt	p.R921C	CLIP2_ENST00000361545.5_Missense_Mutation_p.R886C|CLIP2_ENST00000223398.6_Missense_Mutation_p.R921C			Q9UDT6	CLIP2_HUMAN	CAP-GLY domain containing linker protein 2	921						cytoplasmic microtubule (GO:0005881)|microtubule associated complex (GO:0005875)|microtubule plus-end (GO:0035371)				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|pancreas(1)|prostate(2)|skin(3)	30						GGAGGCCAATCGTCACTCCCC	0.642																																						ENST00000223398.6																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|pancreas(1)|prostate(2)|skin(3)	30						c.(2761-2763)Cgt>Tgt		CAP-GLY domain containing linker protein 2							99	89	92					7																	73811444		2203	4300	6503	SO:0001583	missense	7461					microtubule associated complex		g.chr7:73811444C>T	AB006629	CCDS5569.1, CCDS5570.1	7q11.23	2008-06-12	2007-01-04	2007-01-04	ENSG00000106665	ENSG00000106665			2586	protein-coding gene	gene with protein product		603432	"cytoplasmic linker 2", "Williams-Beuren syndrome chromosome region 3"	WBSCR4, CYLN2, WBSCR3		8812460, 9799601	Standard	NM_003388		Approved	CLIP-115, KIAA0291, WSCR4, CLIP, WSCR3	uc003uam.3	Q9UDT6	OTTHUMG00000022980	ENST00000395060.1:c.2761C>T	7.37:g.73811444C>T	ENSP00000378500:p.Arg921Cys					CLIP2_ENST00000395060.1_Missense_Mutation_p.R921C|CLIP2_ENST00000361545.5_Missense_Mutation_p.R886C	p.R921C	NM_003388.4	NP_003379.3	Q9UDT6	CLIP2_HUMAN			14	3088	+			921					O14527|O43611	Missense_Mutation	SNP	ENST00000395060.1	37	c.2761C>T	CCDS5569.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.294985	0.81025	.	.	ENSG00000106665	ENST00000539676;ENST00000223398;ENST00000361545;ENST00000395060	T;D;T	0.84660	0.14;-1.88;0.14	4.54	4.54	0.55810	.	0.000000	0.85682	D	0.000000	D	0.87176	0.6112	N	0.24115	0.695	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.996	D	0.89318	0.3638	10	0.72032	D	0.01	-21.019	15.8489	0.78912	0.0:1.0:0.0:0.0	.	886;921	Q9UDT6-2;Q9UDT6	.;CLIP2_HUMAN	C	921;921;886;921	ENSP00000223398:R921C;ENSP00000355151:R886C;ENSP00000378500:R921C	ENSP00000223398:R921C	R	+	1	0	CLIP2	73449380	1.000000	0.71417	0.997000	0.53966	0.701000	0.40568	7.044000	0.76578	2.081000	0.62600	0.561000	0.74099	CGT		0.642	CLIP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252556.1	NM_003388		9	27	0	0	0	1	0	9	27					T	73811444	C	T	73811444	3	4	435	1	0	0	0	0	1	0	0	0	3533	884	31	2	2811	2	CLIP2	7	73811444	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	16298	73811444	85327219	3614	24539											
GTF2IRD1	9569	broad.mit.edu	37	chr7	73927219	73927219	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtcgccgtgcacgatgagagCgcctttgtggtgggcacaga	7	8	16	10	4	0	2	0	1	0	2	1	4	0	2	2	2	2	2	2	2	0	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:73927219C>T	ENST00000265755.3	+	3	576	c.183C>T	c.(181-183)agC>agT	p.S61S	GTF2IRD1_ENST00000476977.1_Silent_p.S61S|GTF2IRD1_ENST00000424337.2_Silent_p.S61S|GTF2IRD1_ENST00000489094.1_3'UTR|GTF2IRD1_ENST00000455841.2_Silent_p.S61S	NM_005685.3|NM_016328.2	NP_005676.3|NP_057412.1	Q9UHL9	GT2D1_HUMAN	GTF2I repeat domain containing 1	61					multicellular organismal development (GO:0007275)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)|transition between slow and fast fiber (GO:0014886)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(19)|ovary(6)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						ACGATGAGAGCGCCTTTGTGG	0.612																																						ENST00000476977.1																			0				NS(1)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(19)|ovary(6)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						c.(181-183)agC>agT		GTF2I repeat domain containing 1							102	87	92					7																	73927219		2203	4300	6503	SO:0001819	synonymous_variant	9569					nucleus	DNA binding|protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity	g.chr7:73927219C>T	AF151354	CCDS5571.1, CCDS47613.1, CCDS56492.1	7q11.23	2008-04-18	2002-01-14		ENSG00000006704	ENSG00000006704			4661	protein-coding gene	gene with protein product	"binding factor for early enhancer"	604318	"GTF2I repeat domain-containing 1"	WBSCR11		9774679, 10198167	Standard	NM_016328		Approved	MusTRD1, RBAP2, GTF3, WBSCR12, BEN, Cream1	uc010lbq.3	Q9UHL9	OTTHUMG00000023782	ENST00000265755.3:c.183C>T	7.37:g.73927219C>T						GTF2IRD1_ENST00000489094.1_3'UTR|GTF2IRD1_ENST00000424337.2_Silent_p.S61S|GTF2IRD1_ENST00000455841.2_Silent_p.S61S|GTF2IRD1_ENST00000265755.3_Silent_p.S61S	p.S61S			Q9UHL9	GT2D1_HUMAN			3	1874	+			61					O95444|Q6DSU6|Q75MX7|Q86UM3|Q8WVC4|Q9UHK8|Q9UI91	Silent	SNP	ENST00000265755.3	37	c.183C>T	CCDS5571.1																																																																																				0.612	GTF2IRD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252654.2	NM_016328		18	27	0	0	0	1	0	18	27					T	73927219	C	T	73927219	2	4	435	1	0	0	0	0	0	0	0	1	6868	767	27	1		1	GTF2IRD1	7	73927219	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	115775	73927219	85211444	3615	24540											
GTF2IRD1	9569	broad.mit.edu	37	chr7	73953041	73953041	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gagctgggcgggctgaggccGatcaaaattgagccagagga	11	5	17	8	2	1	3	1	2	0	1	1	6	1	4	2	4	2	2	2	4	2	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:73953041G>A	ENST00000265755.3	+	13	1872	c.1479G>A	c.(1477-1479)ccG>ccA	p.P493P	GTF2IRD1_ENST00000476977.1_Silent_p.P493P|GTF2IRD1_ENST00000424337.2_Silent_p.P493P|GTF2IRD1_ENST00000489094.1_3'UTR|GTF2IRD1_ENST00000455841.2_Silent_p.P525P	NM_005685.3|NM_016328.2	NP_005676.3|NP_057412.1	Q9UHL9	GT2D1_HUMAN	GTF2I repeat domain containing 1	493					multicellular organismal development (GO:0007275)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)|transition between slow and fast fiber (GO:0014886)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(19)|ovary(6)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						GGCTGAGGCCGATCAAAATTG	0.582																																						ENST00000476977.1																			0				NS(1)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(19)|ovary(6)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						c.(1477-1479)ccG>ccA		GTF2I repeat domain containing 1							71	71	71					7																	73953041		2203	4300	6503	SO:0001819	synonymous_variant	9569					nucleus	DNA binding|protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity	g.chr7:73953041G>A	AF151354	CCDS5571.1, CCDS47613.1, CCDS56492.1	7q11.23	2008-04-18	2002-01-14		ENSG00000006704	ENSG00000006704			4661	protein-coding gene	gene with protein product	"binding factor for early enhancer"	604318	"GTF2I repeat domain-containing 1"	WBSCR11		9774679, 10198167	Standard	NM_016328		Approved	MusTRD1, RBAP2, GTF3, WBSCR12, BEN, Cream1	uc010lbq.3	Q9UHL9	OTTHUMG00000023782	ENST00000265755.3:c.1479G>A	7.37:g.73953041G>A						GTF2IRD1_ENST00000489094.1_3'UTR|GTF2IRD1_ENST00000424337.2_Silent_p.P493P|GTF2IRD1_ENST00000455841.2_Silent_p.P525P|GTF2IRD1_ENST00000265755.3_Silent_p.P493P	p.P493P			Q9UHL9	GT2D1_HUMAN			13	3170	+			493					O95444|Q6DSU6|Q75MX7|Q86UM3|Q8WVC4|Q9UHK8|Q9UI91	Silent	SNP	ENST00000265755.3	37	c.1479G>A	CCDS5571.1																																																																																				0.582	GTF2IRD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252654.2	NM_016328		20	31	0	0	0	1	0	20	31					A	73953041	G	A	73953041	2	1	435	1	0	0	0	0	0	0	0	1	6868	1045	37	2		2	GTF2IRD1	7	73953041	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	25822	73953041	85185622	3616	24541											
HIP1	3092	broad.mit.edu	37	chr7	75186962	75186962	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctcgtcccactcaccttcCgctggccctggtcactgatg	4	11	8	18	2	2	1	2	1	0	0	6	1	5	1	5	2	0	1	5	2	0	1	rs201661283		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:75186962C>T	ENST00000336926.6	-	16	1603	c.1577G>A	c.(1576-1578)cGg>cAg	p.R526Q	HIP1_ENST00000434438.2_Missense_Mutation_p.R526Q	NM_005338.5	NP_005329.3	O00291	HIP1_HUMAN	huntingtin interacting protein 1	526					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cell differentiation (GO:0030154)|clathrin coat assembly (GO:0048268)|endocytosis (GO:0006897)|positive regulation of receptor-mediated endocytosis (GO:0048260)|regulation of apoptotic process (GO:0042981)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	clathrin-coated vesicle (GO:0030136)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)	clathrin binding (GO:0030276)|phosphatidylinositol binding (GO:0035091)|structural constituent of cytoskeleton (GO:0005200)			breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						ACTCACCTTCCGCTGGCCCTG	0.582			T	PDGFRB	CMML																																	ENST00000336926.6				Dom	yes		7	7q11.23	3092	T	huntingtin interacting protein 1			L	PDGFRB		CMML		0				breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						c.(1576-1578)cGg>cAg		huntingtin interacting protein 1		C	GLN/ARG	0,4406		0,0,2203	154	149	150		1577	1.9	1	7		150	1,8599	1.2+/-3.3	0,1,4299	yes	missense	HIP1	NM_005338.5	43	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	526/1038	75186962	1,13005	2203	4300	6503	SO:0001583	missense	3092				activation of caspase activity|cell differentiation|clathrin coat assembly|endocytosis|induction of apoptosis|positive regulation of receptor-mediated endocytosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	clathrin coated vesicle membrane|cytoskeleton|Golgi apparatus|membrane fraction|nucleus	actin binding|clathrin binding|phosphatidylinositol binding|structural constituent of cytoskeleton	g.chr7:75186962C>T	AF052288	CCDS34669.1, CCDS59060.1	7q11.23	2008-07-18			ENSG00000127946	ENSG00000127946			4913	protein-coding gene	gene with protein product		601767				9140394, 9147654	Standard	NM_005338		Approved	ILWEQ	uc003uds.2	O00291	OTTHUMG00000156050	ENST00000336926.6:c.1577G>A	7.37:g.75186962C>T	ENSP00000336747:p.Arg526Gln					HIP1_ENST00000434438.2_Missense_Mutation_p.R526Q	p.R526Q	NM_005338.5	NP_005329.3	O00291	HIP1_HUMAN			16	1603	-			526					B4E3I7|E7ES17|O00328|Q2TB58|Q8TDL4	Missense_Mutation	SNP	ENST00000336926.6	37	c.1577G>A	CCDS34669.1	.	.	.	.	.	.	.	.	.	.	C	13.10	2.136544	0.37728	0.0	1.16E-4	ENSG00000127946	ENST00000336926;ENST00000434438	T;T	0.14766	2.71;2.48	4.75	1.86	0.25419	.	0.310567	0.32578	N	0.005909	T	0.07007	0.0178	N	0.20685	0.6	0.23758	N	0.996926	B;B	0.19200	0.016;0.034	B;B	0.04013	0.001;0.001	T	0.37454	-0.9705	10	0.20519	T	0.43	-2.7441	6.6102	0.22747	0.1427:0.6994:0.0:0.158	.	526;526	E7ES17;O00291	.;HIP1_HUMAN	Q	526	ENSP00000336747:R526Q;ENSP00000410300:R526Q	ENSP00000336747:R526Q	R	-	2	0	HIP1	75024898	0.998000	0.40836	1.000000	0.80357	0.946000	0.59487	0.603000	0.24149	0.408000	0.25621	0.585000	0.79938	CGG		0.582	HIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342863.2	NM_005338		18	96	0	0	0	1	0	18	96					T	75186962	C	T	75186962	3	4	435	1	0	0	0	0	1	0	0	0	7114	652	23	2	1600	2	HIP1	7	75186962	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	1233921	75186962	83951701	3617	24542											
RHBDD2	57414	broad.mit.edu	37	chr7	75511511	75511511	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgtggctcattccccagacCtctttcctcagtaatgtctg	6	14	7	14	1	4	1	2	0	2	1	7	1	6	1	4	1	0	2	4	1	1	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:75511511C>A	ENST00000006777.6	+	2	678	c.543C>A	c.(541-543)acC>acA	p.T181T	RHBDD2_ENST00000468304.1_Intron|RHBDD2_ENST00000318622.4_Silent_p.T40T|RHBDD2_ENST00000428119.1_Silent_p.T40T	NM_001040456.1	NP_001035546.1	Q6NTF9	RHBD2_HUMAN	rhomboid domain containing 2	181						Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	serine-type endopeptidase activity (GO:0004252)			kidney(1)|lung(4)|prostate(1)	6						TTCCCCAGACCTCTTTCCTCA	0.587																																						ENST00000318622.4																			0				kidney(1)|lung(4)|prostate(1)	6						c.(118-120)acC>acA		rhomboid domain containing 2							42	43	43					7																	75511511		2069	4208	6277	SO:0001819	synonymous_variant	57414					integral to membrane	serine-type endopeptidase activity	g.chr7:75511511C>A	AF226732	CCDS43602.1, CCDS43603.1	7q11	2008-09-04	2006-02-22	2006-02-22	ENSG00000005486	ENSG00000005486			23082	protein-coding gene	gene with protein product		615203	"rhomboid, veinlet-like 7 (Drosophila)"	RHBDL7		12838346	Standard	XM_005250511		Approved	NPD007	uc003udw.1	Q6NTF9	OTTHUMG00000156435	ENST00000006777.6:c.543C>A	7.37:g.75511511C>A						RHBDD2_ENST00000006777.6_Silent_p.T181T|RHBDD2_ENST00000468304.1_Intron|RHBDD2_ENST00000428119.1_Silent_p.T40T	p.T40T	NM_001040457.1	NP_001035547.1	Q6NTF9	RHBD2_HUMAN			3	749	+			181					Q7L534|Q9H5W6|Q9HBK7|Q9UDT2	Silent	SNP	ENST00000006777.6	37	c.120C>A	CCDS43602.1																																																																																				0.587	RHBDD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344176.1	NM_020684		13	22	1	0	5.01169e-05	1	5.15048e-05	13	22					A	75511511	C	A	75511511	2	1	435	1	0	0	0	0	0	0	0	1	13317	668	24	5		5	RHBDD2	7	75511511	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	324549	75511511	83627152	3618	24543											
RHBDD2	57414	broad.mit.edu	37	chr7	75517369	75517369	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaccctcacctgtccccaaGccaccctgtgtcccagacgc	7	6	6	22	1	1	1	1	0	0	1	3	1	3	1	8	0	1	0	8	0	1	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:75517369G>T	ENST00000006777.6	+	4	932	c.797G>T	c.(796-798)aGc>aTc	p.S266I	RHBDD2_ENST00000468304.1_3'UTR|RHBDD2_ENST00000318622.4_Missense_Mutation_p.S125I|RHBDD2_ENST00000428119.1_Missense_Mutation_p.S125I	NM_001040456.1	NP_001035546.1	Q6NTF9	RHBD2_HUMAN	rhomboid domain containing 2	266						Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	serine-type endopeptidase activity (GO:0004252)			kidney(1)|lung(4)|prostate(1)	6						CTGTCCCCAAGCCACCCTGTG	0.632																																						ENST00000318622.4																			0				kidney(1)|lung(4)|prostate(1)	6						c.(373-375)aGc>aTc		rhomboid domain containing 2							74	91	85					7																	75517369		2129	4225	6354	SO:0001583	missense	57414					integral to membrane	serine-type endopeptidase activity	g.chr7:75517369G>T	AF226732	CCDS43602.1, CCDS43603.1	7q11	2008-09-04	2006-02-22	2006-02-22	ENSG00000005486	ENSG00000005486			23082	protein-coding gene	gene with protein product		615203	"rhomboid, veinlet-like 7 (Drosophila)"	RHBDL7		12838346	Standard	XM_005250511		Approved	NPD007	uc003udw.1	Q6NTF9	OTTHUMG00000156435	ENST00000006777.6:c.797G>T	7.37:g.75517369G>T	ENSP00000006777:p.Ser266Ile					RHBDD2_ENST00000006777.6_Missense_Mutation_p.S266I|RHBDD2_ENST00000468304.1_3'UTR|RHBDD2_ENST00000428119.1_Missense_Mutation_p.S125I	p.S125I	NM_001040457.1	NP_001035547.1	Q6NTF9	RHBD2_HUMAN			5	1003	+			266					Q7L534|Q9H5W6|Q9HBK7|Q9UDT2	Missense_Mutation	SNP	ENST00000006777.6	37	c.374G>T	CCDS43602.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	3.160|3.160	-0.172262|-0.172262	0.06421|0.06421	.|.	.|.	ENSG00000005486|ENSG00000005486	ENST00000413229|ENST00000006777;ENST00000318622;ENST00000428119	.|T	.|0.34472	.|1.36	5.29|5.29	-4.82|-4.82	0.03171|0.03171	.|.	.|1.457470	.|0.03401	.|N	.|0.203378	T|T	0.21427|0.21427	0.0516|0.0516	N|N	0.14661|0.14661	0.345|0.345	0.09310|0.09310	N|N	1|1	.|B	.|0.23735	.|0.09	.|B	.|0.25759	.|0.063	T|T	0.19128|0.19128	-1.0315|-1.0315	6|10	0.28530|0.30078	T|T	0.3|0.28	-4.3984|-4.3984	8.7288|8.7288	0.34485|0.34485	0.5015:0.2185:0.2801:0.0|0.5015:0.2185:0.2801:0.0	.|.	.|266	.|Q6NTF9	.|RHBD2_HUMAN	N|I	310|266;125;125	.|ENSP00000006777:S266I	ENSP00000407074:K310N|ENSP00000006777:S266I	K|S	+|+	3|2	2|0	RHBDD2|RHBDD2	75355305|75355305	0.005000|0.005000	0.15991|0.15991	0.000000|0.000000	0.03702|0.03702	0.006000|0.006000	0.05464|0.05464	0.169000|0.169000	0.16641|0.16641	-1.092000|-1.092000	0.03062|0.03062	-1.731000|-1.731000	0.00696|0.00696	AAG|AGC		0.632	RHBDD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344176.1	NM_020684		27	45	1	0	1.5548e-18	1	1.71633e-18	27	45					T	75517369	G	T	75517369	3	4	435	1	0	0	0	0	1	0	0	0	13317	971	34	5	811	5	RHBDD2	7	75517369	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	5858	75517369	83621294	3619	24544											
POR	5447	broad.mit.edu	37	chr7	75609690	75609690	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctgccagagatcgacaacGccctggtggttttctgcatg	7	10	12	12	2	1	1	0	0	1	1	2	3	1	1	3	2	3	2	3	2	1	2	rs201365892		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:75609690G>A	ENST00000461988.1	+	5	505	c.400G>A	c.(400-402)Gcc>Acc	p.A134T	POR_ENST00000439269.1_5'Flank|POR_ENST00000545601.1_5'UTR|POR_ENST00000450476.1_5'Flank|POR_ENST00000394893.1_Missense_Mutation_p.A134T|POR_ENST00000419840.1_5'UTR	NM_000941.2	NP_000932.3	P16435	NCPR_HUMAN	P450 (cytochrome) oxidoreductase	131	Flavodoxin-like. {ECO:0000255|PROSITE- ProRule:PRU00088}.				carnitine metabolic process (GO:0009437)|cellular organofluorine metabolic process (GO:0090346)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to peptide hormone stimulus (GO:0071375)|demethylation (GO:0070988)|fatty acid oxidation (GO:0019395)|flavonoid metabolic process (GO:0009812)|internal peptidyl-lysine acetylation (GO:0018393)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of lipase activity (GO:0060192)|nitrate catabolic process (GO:0043602)|nitric oxide catabolic process (GO:0046210)|oxidation-reduction process (GO:0055114)|positive regulation of cholesterol biosynthetic process (GO:0045542)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of monooxygenase activity (GO:0032770)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of steroid hormone biosynthetic process (GO:0090031)|regulation of growth plate cartilage chondrocyte proliferation (GO:0003420)|response to drug (GO:0042493)|response to nutrient (GO:0007584)	endoplasmic reticulum (GO:0005783)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrion (GO:0005739)	cytochrome-b5 reductase activity, acting on NAD(P)H (GO:0004128)|electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|FMN binding (GO:0010181)|hydrolase activity (GO:0016787)|iron ion binding (GO:0005506)|iron-cytochrome-c reductase activity (GO:0047726)|NADP binding (GO:0050661)|NADPH-hemoprotein reductase activity (GO:0003958)|nitric oxide dioxygenase activity (GO:0008941)			central_nervous_system(1)|endometrium(2)|kidney(2)|lung(3)|ovary(1)	9					Benzphetamine(DB00865)|Daunorubicin(DB00694)|Doxorubicin(DB00997)|Ethylmorphine(DB01466)|Flavin adenine dinucleotide(DB03147)|Lipoic Acid(DB00166)|Mitomycin(DB00305)|Nilutamide(DB00665)|Nitrofurantoin(DB00698)	GATCGACAACGCCCTGGTGGT	0.617																																						ENST00000394893.1																			0				central_nervous_system(1)|endometrium(2)|kidney(2)|lung(3)|ovary(1)	9						c.(400-402)Gcc>Acc		P450 (cytochrome) oxidoreductase	Benzphetamine(DB00865)|Daunorubicin(DB00694)|Lipoic Acid(DB00166)|Menadione(DB00170)|Methoxyflurane(DB01028)|Mitomycin(DB00305)|Nilutamide(DB00665)	G	THR/ALA	1,4109		0,1,2054	59	67	64		400	-7.7	0	7		64	1,8377		0,1,4188	yes	missense	POR	NM_000941.2	58	0,2,6242	AA,AG,GG		0.0119,0.0243,0.016	benign	134/681	75609690	2,12486	2055	4189	6244	SO:0001583	missense	5447				cellular organofluorine metabolic process|positive regulation of monooxygenase activity	endoplasmic reticulum membrane	iron ion binding|NADPH-hemoprotein reductase activity	g.chr7:75609690G>A	AF258341	CCDS5579.1	7q11.2	2006-12-05			ENSG00000127948	ENSG00000127948			9208	protein-coding gene	gene with protein product		124015				2516426	Standard	NM_000941		Approved	CYPOR, FLJ26468	uc003udy.3	P16435	OTTHUMG00000130413	ENST00000461988.1:c.400G>A	7.37:g.75609690G>A	ENSP00000419970:p.Ala134Thr					POR_ENST00000419840.1_5'UTR|POR_ENST00000461988.1_Missense_Mutation_p.A134T|POR_ENST00000545601.1_5'UTR	p.A134T			P16435	NCPR_HUMAN			5	420	+			131			Flavodoxin-like.		Q16455|Q197M5|Q8N181|Q9H3M8|Q9UDT3	Missense_Mutation	SNP	ENST00000461988.1	37	c.400G>A	CCDS5579.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.02|12.02	1.811144|1.811144	0.32053|0.32053	2.43E-4|2.43E-4	1.19E-4|1.19E-4	ENSG00000127948|ENSG00000127948	ENST00000453773;ENST00000439963;ENST00000461988;ENST00000394893;ENST00000412521;ENST00000414186;ENST00000432753;ENST00000426184|ENST00000447222	T;T;T;T;T;T;T;T|.	0.73897|.	-0.79;-0.7;-0.7;-0.7;-0.7;-0.7;-0.7;-0.7|.	4.81|4.81	-7.67|-7.67	0.01272|0.01272	.|.	0.398015|.	0.31188|.	N|.	0.008098|.	T|T	0.42177|0.42177	0.1191|0.1191	N|N	0.16708|0.16708	0.43|0.43	0.80722|0.80722	D|D	1|1	B|.	0.22414|.	0.069|.	B|.	0.19148|.	0.024|.	T|T	0.42965|0.42965	-0.9420|-0.9420	10|5	0.35671|.	T|.	0.21|.	-30.0024|-30.0024	15.8415|15.8415	0.78848|0.78848	0.0873:0.0:0.7383:0.1745|0.0873:0.0:0.7383:0.1745	.|.	140|.	Q59ED7|.	.|.	T|H	134;134;134;134;134;134;134;87|106	ENSP00000395813:A134T;ENSP00000390540:A134T;ENSP00000419970:A134T;ENSP00000378355:A134T;ENSP00000409238:A134T;ENSP00000399327:A134T;ENSP00000389409:A134T;ENSP00000400964:A87T|.	ENSP00000378355:A134T|.	A|R	+|+	1|2	0|0	POR|POR	75447626|75447626	1.000000|1.000000	0.71417|0.71417	0.008000|0.008000	0.14137|0.14137	0.097000|0.097000	0.18754|0.18754	1.751000|1.751000	0.38339|0.38339	-1.037000|-1.037000	0.03283|0.03283	-0.268000|-0.268000	0.10319|0.10319	GCC|CGC		0.617	POR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252796.7	NM_000941		23	23	0	0	0	1	0	23	23					A	75609690	G	A	75609690	3	1	435	1	0	0	0	0	1	0	0	0	12257	1087	38	1	414	1	POR	7	75609690	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	92321	75609690	83528973	3620	24545											
TMEM120A	83862	broad.mit.edu	37	chr7	75621505	75621505	+	RNA	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccatgtcaaagaagaggcCttggcgctctttcatctggt	8	12	10	11	1	4	2	2	0	2	2	5	2	5	2	2	3	0	1	2	3	2	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:75621505C>A	ENST00000338761.4	-	0	362				TMEM120A_ENST00000493111.2_RNA			Q9BXJ8	T120A_HUMAN	transmembrane protein 120A							integral component of membrane (GO:0016021)											AAGAAGAGGCCTTGGCGCTCT	0.612																																						ENST00000338761.4																			0													transmembrane protein 120A							69	75	73					7																	75621505		1916	4113	6029			83862					integral to membrane		g.chr7:75621505C>A	AF327923	CCDS64688.1	7q11.23	2009-11-06			ENSG00000189077	ENSG00000189077			21697	protein-coding gene	gene with protein product							Standard	NM_031925		Approved	TMPIT, NET29	uc003ued.3	Q9BXJ8	OTTHUMG00000156620		7.37:g.75621505C>A						TMEM120A_ENST00000493111.2_RNA				Q9BXJ8	T120A_HUMAN			0	362	-								Q86TE9|Q8N6P1	RNA	SNP	ENST00000338761.4	37																																																																																						0.612	TMEM120A-001	KNOWN	basic	processed_transcript	polymorphic_pseudogene	OTTHUMT00000344834.4	NM_031925		31	27	1	0	6.00712e-18	1	6.62549e-18	31	27					A	75621505	C	A	75621505	1	1	435	0	1	0	0	0	0	0	0	0	16030	681	24	5		5	TMEM120A	7	75621505	RNA	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	11815	75621505	83517158	3621	24546											
STYXL1	51657	broad.mit.edu	37	chr7	75630243	75630243	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttactatgcatgaggtaggCtatgatggcggcacaactgc	10	10	13	8	1	0	2	0	2	0	0	0	2	0	2	0	4	4	5	0	4	5	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:75630243C>A	ENST00000248600.1	-	8	1117	c.775G>T	c.(775-777)Gcc>Tcc	p.A259S	STYXL1_ENST00000451157.1_Missense_Mutation_p.A259S|STYXL1_ENST00000431581.1_Missense_Mutation_p.A259S|STYXL1_ENST00000360591.3_3'UTR|STYXL1_ENST00000340062.5_Missense_Mutation_p.A163S|STYXL1_ENST00000359697.3_Missense_Mutation_p.A259S	NM_016086.2	NP_057170.1	Q9Y6J8	STYL1_HUMAN	serine/threonine/tyrosine interacting-like 1	259	Tyrosine-protein phosphatase.				intracellular signal transduction (GO:0035556)|protein dephosphorylation (GO:0006470)		protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(1)	10						ATGAGGTAGGCTATGATGGCG	0.567																																						ENST00000451157.1																			0				endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(1)	10						c.(775-777)Gcc>Tcc		serine/threonine/tyrosine interacting-like 1							153	128	136					7																	75630243		2203	4300	6503	SO:0001583	missense	51657				intracellular signal transduction|protein dephosphorylation	intracellular	protein binding|protein tyrosine/serine/threonine phosphatase activity	g.chr7:75630243C>A	AF069762	CCDS5580.1	7q11.23	2011-06-09	2005-09-22	2005-09-22	ENSG00000127952	ENSG00000127952		"Protein tyrosine phosphatases / Class I Cys-based PTPs : MAP kinase phosphatases"	18165	protein-coding gene	gene with protein product			"dual specificity phosphatase 24 (putative)"	DUSP24		9757831	Standard	NM_016086		Approved	MK-STYX	uc003uel.3	Q9Y6J8	OTTHUMG00000130459	ENST00000248600.1:c.775G>T	7.37:g.75630243C>A	ENSP00000248600:p.Ala259Ser					STYXL1_ENST00000431581.1_Missense_Mutation_p.A259S|STYXL1_ENST00000360591.3_3'UTR|STYXL1_ENST00000359697.3_Missense_Mutation_p.A259S|STYXL1_ENST00000340062.5_Missense_Mutation_p.A163S|STYXL1_ENST00000248600.1_Missense_Mutation_p.A259S	p.A259S			Q9Y6J8	STYL1_HUMAN			8	944	-			259			Tyrosine-protein phosphatase.		Q9UBP1|Q9UK06|Q9UK07|Q9UKG2|Q9UKG3	Missense_Mutation	SNP	ENST00000248600.1	37	c.775G>T	CCDS5580.1	.	.	.	.	.	.	.	.	.	.	C	16.62	3.173450	0.57584	.	.	ENSG00000127952	ENST00000248600;ENST00000359697;ENST00000340062;ENST00000431581;ENST00000451157	T;T;T;T;T	0.66815	-0.23;-0.23;-0.23;-0.23;-0.23	4.72	4.72	0.59763	Dual specificity phosphatase, catalytic domain (1);Dual specificity phosphatase, subgroup, catalytic domain (2);	.	.	.	.	T	0.81494	0.4834	M	0.81614	2.55	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.996;0.996;0.998;0.998	D	0.83697	0.0180	9	0.62326	D	0.03	.	13.543	0.61686	0.0:1.0:0.0:0.0	.	259;163;259;163	C9J4H0;Q9Y6J8-4;Q9Y6J8;Q7Z3H6	.;.;STYL1_HUMAN;.	S	259;259;163;259;259	ENSP00000248600:A259S;ENSP00000352726:A259S;ENSP00000343383:A163S;ENSP00000392221:A259S;ENSP00000411812:A259S	ENSP00000248600:A259S	A	-	1	0	STYXL1	75468179	0.998000	0.40836	0.977000	0.42913	0.169000	0.22640	4.842000	0.62831	2.344000	0.79699	0.555000	0.69702	GCC		0.567	STYXL1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344825.1	NM_016086		20	36	1	0	2.52088e-20	1	2.79422e-20	20	36					A	75630243	C	A	75630243	3	1	435	1	0	0	0	0	1	0	0	0	15360	797	28	5	174	5	STYXL1	7	75630243	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	8738	75630243	83508420	3622	24547											
MDH2	4191	broad.mit.edu	37	chr7	75686750	75686750	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacctcggacctgaacagctGcctgactgcctgaaaggttg	9	9	11	12	1	0	3	0	3	0	0	1	4	0	4	4	2	5	2	4	2	3	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:75686750G>A	ENST00000315758.5	+	3	352	c.258G>A	c.(256-258)ctG>ctA	p.L86L	MDH2_ENST00000432020.2_Silent_p.L86L|MDH2_ENST00000443006.1_5'UTR|MDH2_ENST00000490105.1_3'UTR	NM_005918.2	NP_005909.2	P40926	MDHM_HUMAN	malate dehydrogenase 2, NAD (mitochondrial)	86					carbohydrate metabolic process (GO:0005975)|cellular carbohydrate metabolic process (GO:0044262)|cellular metabolic process (GO:0044237)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|internal protein amino acid acetylation (GO:0006475)|malate metabolic process (GO:0006108)|NADH metabolic process (GO:0006734)|oxaloacetate metabolic process (GO:0006107)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	L-malate dehydrogenase activity (GO:0030060)|malate dehydrogenase (NADP+) activity (GO:0046554)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)|skin(2)	14						CTGAACAGCTGCCTGACTGCC	0.522																																						ENST00000315758.5																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)|skin(2)	14						c.(256-258)ctG>ctA		malate dehydrogenase 2, NAD (mitochondrial)	NADH(DB00157)						129	113	119					7																	75686750		2203	4300	6503	SO:0001819	synonymous_variant	4191				gluconeogenesis|malate metabolic process|tricarboxylic acid cycle	mitochondrial matrix|nucleus|plasma membrane	binding|L-malate dehydrogenase activity	g.chr7:75686750G>A		CCDS5581.1, CCDS64691.1, CCDS75622.1	7q11.23	2013-09-20			ENSG00000146701	ENSG00000146701	1.1.1.37		6971	protein-coding gene	gene with protein product		154100					Standard	NM_005918		Approved		uc003ueo.3	P40926	OTTHUMG00000023827	ENST00000315758.5:c.258G>A	7.37:g.75686750G>A						MDH2_ENST00000432020.2_Silent_p.L86L|MDH2_ENST00000490105.1_3'UTR|MDH2_ENST00000443006.1_5'UTR	p.L86L	NM_005918.2	NP_005909.2	P40926	MDHM_HUMAN			3	352	+			86					A8K414|B2RE78|B4DE44|E9PDB2|O43682	Silent	SNP	ENST00000315758.5	37	c.258G>A	CCDS5581.1																																																																																				0.522	MDH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252851.1			18	39	0	0	0	1	0	18	39					A	75686750	G	A	75686750	2	1	435	1	0	0	0	0	0	0	0	1	9410	1306	46	3		3	MDH2	7	75686750	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	56507	75686750	83451913	3623	24548											
ZP3	7784	broad.mit.edu	37	chr7	76054468	76054468	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcaaagacctttttggcaccGggaagctcatcagggctgct	9	9	12	11	1	2	1	2	0	0	1	2	2	2	2	2	3	2	5	2	3	2	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:76054468G>A	ENST00000394857.3	+	1	245	c.187G>A	c.(187-189)Ggg>Agg	p.G63R	ZP3_ENST00000336517.4_Missense_Mutation_p.G12R	NM_001110354.1	NP_001103824.1	P21754	ZP3_HUMAN	zona pellucida glycoprotein 3 (sperm receptor)	63	ZP. {ECO:0000255|PROSITE- ProRule:PRU00375}.				binding of sperm to zona pellucida (GO:0007339)|blastocyst formation (GO:0001825)|calcium ion transmembrane transport (GO:0070588)|egg coat formation (GO:0035803)|humoral immune response mediated by circulating immunoglobulin (GO:0002455)|intracellular protein transport (GO:0006886)|intracellular signal transduction (GO:0035556)|manganese ion transmembrane transport (GO:0071421)|manganese ion transport (GO:0006828)|multicellular organism reproduction (GO:0032504)|negative regulation of binding of sperm to zona pellucida (GO:2000360)|negative regulation of transcription, DNA-templated (GO:0045892)|oocyte development (GO:0048599)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of acrosomal vesicle exocytosis (GO:2000368)|positive regulation of acrosome reaction (GO:2000344)|positive regulation of antral ovarian follicle growth (GO:2000388)|positive regulation of calcium ion import (GO:0090280)|positive regulation of humoral immune response (GO:0002922)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of ovarian follicle development (GO:2000386)|positive regulation of phosphatidylinositol biosynthetic process (GO:0010513)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type IV hypersensitivity (GO:0001809)|protein kinase C signaling (GO:0070528)|single fertilization (GO:0007338)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|multivesicular body (GO:0005771)|outer acrosomal membrane (GO:0002081)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)|secretory granule (GO:0030141)	acrosin binding (GO:0032190)|carbohydrate binding (GO:0030246)|manganese ion transmembrane transporter activity (GO:0005384)|signal transducer activity (GO:0004871)|store-operated calcium channel activity (GO:0015279)			endometrium(1)|large_intestine(3)|lung(2)|skin(1)	7						TTTTGGCACCGGGAAGCTCAT	0.587																																						ENST00000336517.4																			0				endometrium(1)|large_intestine(3)|lung(2)|skin(1)	7						c.(34-36)Ggg>Agg		zona pellucida glycoprotein 3 (sperm receptor)							69	54	59					7																	76054468		2203	4300	6503	SO:0001583	missense	7784				binding of sperm to zona pellucida|blastocyst formation|egg coat formation|humoral immune response mediated by circulating immunoglobulin|intracellular protein transport|negative regulation of binding of sperm to zona pellucida|negative regulation of transcription, DNA-dependent|oocyte development|phosphatidylinositol-mediated signaling|positive regulation of acrosomal vesicle exocytosis|positive regulation of acrosome reaction|positive regulation of antral ovarian follicle growth|positive regulation of calcium ion import|positive regulation of calcium ion transport via store-operated calcium channel activity|positive regulation of humoral immune response|positive regulation of interferon-gamma production|positive regulation of interleukin-4 production|positive regulation of leukocyte migration|positive regulation of ovarian follicle development|positive regulation of phosphatidylinositol biosynthetic process|positive regulation of protein kinase activity|positive regulation of protein kinase B signaling cascade|positive regulation of T cell proliferation|positive regulation of transcription, DNA-dependent|positive regulation of type IV hypersensitivity|protein kinase C signaling cascade	endoplasmic reticulum|extracellular space|Golgi apparatus|integral to membrane|multivesicular body|outer acrosomal membrane|perinuclear region of cytoplasm|plasma membrane|proteinaceous extracellular matrix	acrosin binding|manganese ion transmembrane transporter activity|receptor activity|sugar binding	g.chr7:76054468G>A	M60504	CCDS5586.1, CCDS47618.1	7q11.23	2014-07-04	2002-09-17	2002-09-20	ENSG00000188372	ENSG00000188372		"Zona pellucida glycoproteins"	13189	protein-coding gene	gene with protein product		182889	"zona pellucida glycoprotein 3A (sperm receptor)"	ZP3A, ZP3B		1478648	Standard	NM_007155		Approved	ZP3-424, ZP3-372, ZPC	uc003ufd.4	P21754	OTTHUMG00000130575	ENST00000394857.3:c.187G>A	7.37:g.76054468G>A	ENSP00000378326:p.Gly63Arg					ZP3_ENST00000394857.3_Missense_Mutation_p.G63R	p.G12R	NM_007155.5	NP_009086.4	P21754	ZP3_HUMAN			2	380	+			63					Q06633|Q29RW0	Missense_Mutation	SNP	ENST00000394857.3	37	c.34G>A	CCDS47618.1	.	.	.	.	.	.	.	.	.	.	G	13.16	2.154111	0.38021	.	.	ENSG00000188372	ENST00000336517;ENST00000394857;ENST00000544121	D;D	0.83914	-1.78;-1.78	5.06	4.19	0.49359	Zona pellucida sperm-binding protein (3);	0.000000	0.85682	D	0.000000	D	0.85656	0.5747	M	0.92026	3.265	0.80722	D	1	B	0.24317	0.101	B	0.24394	0.053	D	0.85271	0.1056	10	0.72032	D	0.01	-46.8942	11.5265	0.50582	0.0873:0.0:0.9127:0.0	.	63	P21754	ZP3_HUMAN	R	12;63;63	ENSP00000337310:G12R;ENSP00000378326:G63R	ENSP00000337310:G12R	G	+	1	0	ZP3	75892404	1.000000	0.71417	0.925000	0.36789	0.030000	0.12068	4.499000	0.60380	1.375000	0.46248	-0.444000	0.05651	GGG		0.587	ZP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253004.1			9	12	0	0	0	1	0	9	12					A	76054468	G	A	76054468	3	1	435	1	0	0	0	0	1	0	0	0	18214	1116	39	2	189	2	ZP3	7	76054468	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	367718	76054468	83084195	3624	24549											
CCDC146	57639	broad.mit.edu	37	chr7	76888316	76888316	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcgtttctttactaggatgAagtggcccaccatcaaacca	11	12	7	11	1	2	1	1	1	1	0	3	2	2	2	3	2	2	1	3	2	4	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:76888316A>G	ENST00000285871.4	+	7	816	c.689A>G	c.(688-690)gAa>gGa	p.E230G	AC073635.5_ENST00000476561.2_RNA|CCDC146_ENST00000431197.1_5'UTR	NM_020879.2	NP_065930.2	Q8IYE0	CC146_HUMAN	coiled-coil domain containing 146	230										breast(3)|central_nervous_system(3)|endometrium(1)|kidney(4)|large_intestine(7)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	34		all_cancers(73;0.128)|all_lung(88;0.0986)|all_epithelial(88;0.163)|Myeloproliferative disorder(862;0.205)				TACTAGGATGAAGTGGCCCAC	0.318																																						ENST00000285871.4																			0				breast(3)|central_nervous_system(3)|endometrium(1)|kidney(4)|large_intestine(7)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	34						c.(688-690)gAa>gGa		coiled-coil domain containing 146							90	84	86					7																	76888316		2203	4300	6503	SO:0001583	missense	57639							g.chr7:76888316A>G	BC029458	CCDS34671.1	7q11.23	2011-09-07			ENSG00000135205	ENSG00000135205			29296	protein-coding gene	gene with protein product						10819331	Standard	NM_020879		Approved	KIAA1505	uc003uga.3	Q8IYE0	OTTHUMG00000162595	ENST00000285871.4:c.689A>G	7.37:g.76888316A>G	ENSP00000285871:p.Glu230Gly					CCDC146_ENST00000431197.1_5'UTR	p.E230G	NM_020879.2	NP_065930.2	Q8IYE0	CC146_HUMAN			7	816	+		all_cancers(73;0.128)|all_lung(88;0.0986)|all_epithelial(88;0.163)|Myeloproliferative disorder(862;0.205)	230					A8K8X6|Q9P223	Missense_Mutation	SNP	ENST00000285871.4	37	c.689A>G	CCDS34671.1	.	.	.	.	.	.	.	.	.	.	A	21.5	4.155078	0.78114	.	.	ENSG00000135205	ENST00000285871	T	0.29142	1.58	5.6	5.6	0.85130	.	0.231995	0.43579	D	0.000550	T	0.45054	0.1323	M	0.62723	1.935	0.80722	D	1	D	0.57257	0.979	P	0.54815	0.761	T	0.39121	-0.9629	10	0.49607	T	0.09	-7.7218	13.2934	0.60284	1.0:0.0:0.0:0.0	.	230	Q8IYE0	CC146_HUMAN	G	230	ENSP00000285871:E230G	ENSP00000285871:E230G	E	+	2	0	AC007000.1	76726252	1.000000	0.71417	0.999000	0.59377	0.712000	0.41017	5.600000	0.67599	2.121000	0.65114	0.460000	0.39030	GAA		0.318	CCDC146-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341449.1	NM_020879		3	46	0	0	0	1	0	3	46					G	76888316	A	G	76888316	3	3	435	1	0	0	0	0	1	0	0	0	2780	246	9	4	711	4	CCDC146	7	76888316	Missense_Mutation	SNP	A	TCGA-XK-AAIW-01A-11D-A41K-08	833848	76888316	82250347	3625	24550											
MAGI2	9863	broad.mit.edu	37	chr7	77764474	77764474	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccacttttagttttgcacaGcgatctgcaggactcccatc	8	12	7	14	1	1	0	0	0	1	0	3	2	2	1	2	1	3	3	2	1	1	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:77764474G>T	ENST00000354212.4	-	17	3148	c.2895C>A	c.(2893-2895)cgC>cgA	p.R965R	MAGI2_ENST00000419488.1_Silent_p.R951R|MAGI2_ENST00000522391.1_Silent_p.R965R	NM_012301.3	NP_036433.2	Q86UL8	MAGI2_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 2	965	PDZ 5. {ECO:0000255|PROSITE- ProRule:PRU00143}.				cellular response to nerve growth factor stimulus (GO:1990090)|cytoplasmic transport (GO:0016482)|glomerular visceral epithelial cell development (GO:0072015)|mitotic cell cycle arrest (GO:0071850)|negative regulation of activin receptor signaling pathway (GO:0032926)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein kinase B signaling (GO:0051898)|nerve growth factor signaling pathway (GO:0038180)|planar cell polarity pathway involved in axis elongation (GO:0003402)|positive regulation of neuron projection development (GO:0010976)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of receptor internalization (GO:0002092)|protein heterooligomerization (GO:0051291)|receptor clustering (GO:0043113)|SMAD protein signal transduction (GO:0060395)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|late endosome (GO:0005770)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|protein complex (GO:0043234)|slit diaphragm (GO:0036057)|synapse (GO:0045202)|tight junction (GO:0005923)	beta-1 adrenergic receptor binding (GO:0031697)|phosphatase binding (GO:0019902)|receptor signaling complex scaffold activity (GO:0030159)|signal transducer activity (GO:0004871)|SMAD binding (GO:0046332)|type II activin receptor binding (GO:0070699)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				GTTTTGCACAGCGATCTGCAG	0.473																																						ENST00000354212.4																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84						c.(2893-2895)cgC>cgA		membrane associated guanylate kinase, WW and PDZ domain containing 2							190	165	173					7																	77764474		2203	4300	6503	SO:0001819	synonymous_variant	9863					cell junction|synapse|synaptosome	phosphatase binding	g.chr7:77764474G>T	AB014605	CCDS5594.1, CCDS75623.1	7q21	2005-08-09			ENSG00000187391	ENSG00000187391			18957	protein-coding gene	gene with protein product		606382				10681527, 9734811	Standard	XM_005250725		Approved	AIP1, ARIP1, KIAA0705, ACVRIP1, MAGI-2	uc003ugx.3	Q86UL8	OTTHUMG00000130697	ENST00000354212.4:c.2895C>A	7.37:g.77764474G>T						MAGI2_ENST00000419488.1_Silent_p.R951R|MAGI2_ENST00000522391.1_Silent_p.R965R	p.R965R	NM_012301.3	NP_036433.2	Q86UL8	MAGI2_HUMAN			17	3148	-		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)	965			PDZ 5.		A4D1C1|A7E2C3|O60434|O60510|Q86UI7|Q9NP44|Q9UDQ5|Q9UDU1	Silent	SNP	ENST00000354212.4	37	c.2895C>A	CCDS5594.1																																																																																				0.473	MAGI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253197.3	NM_012301		25	56	1	0	3.73808e-20	1	4.14251e-20	25	56					T	77764474	G	T	77764474	2	4	435	1	0	0	0	0	0	0	0	1	9191	958	34	5		5	MAGI2	7	77764474	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	876158	77764474	81374189	3626	24551											
CD36	948	broad.mit.edu	37	chr7	80292376	80292376	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acttattaacaagtcaaaatCttctatgttccaagtcagaa	16	13	4	8	0	4	1	2	0	2	1	5	1	5	1	1	0	1	1	1	0	8	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:80292376C>T	ENST00000435819.1	+	9	1184	c.500C>T	c.(499-501)tCt>tTt	p.S167F	CD36_ENST00000433696.2_Missense_Mutation_p.S167F|CD36_ENST00000394788.3_Missense_Mutation_p.S167F|CD36_ENST00000534394.1_Missense_Mutation_p.S91F|CD36_ENST00000432207.1_Missense_Mutation_p.S167F|CD36_ENST00000544133.1_Missense_Mutation_p.S167F|CD36_ENST00000309881.7_Missense_Mutation_p.S167F|CD36_ENST00000538969.1_Intron|CD36_ENST00000447544.2_Missense_Mutation_p.S167F			P16671	CD36_HUMAN	CD36 molecule (thrombospondin receptor)	167					antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic cell clearance (GO:0043277)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|cellular lipid metabolic process (GO:0044255)|cellular response to bacterial lipopeptide (GO:0071221)|cellular response to hydroperoxide (GO:0071447)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to lipoteichoic acid (GO:0071223)|cGMP-mediated signaling (GO:0019934)|cholesterol transport (GO:0030301)|defense response to Gram-positive bacterium (GO:0050830)|innate immune response (GO:0045087)|lipid metabolic process (GO:0006629)|lipid storage (GO:0019915)|lipoprotein transport (GO:0042953)|long-chain fatty acid import (GO:0044539)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle mediated signaling (GO:0055096)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of transcription factor import into nucleus (GO:0042992)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nitric oxide mediated signal transduction (GO:0007263)|phagocytosis, recognition (GO:0006910)|plasma lipoprotein particle clearance (GO:0034381)|plasma membrane long-chain fatty acid transport (GO:0015911)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of blood coagulation (GO:0030194)|positive regulation of blood microparticle formation (GO:2000334)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of macrophage cytokine production (GO:0060907)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phagocytosis, engulfment (GO:0060100)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of removal of superoxide radicals (GO:2000121)|response to stilbenoid (GO:0035634)|small molecule metabolic process (GO:0044281)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)	cell surface (GO:0009986)|endocytic vesicle membrane (GO:0030666)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|membrane raft (GO:0045121)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)|platelet alpha granule membrane (GO:0031092)	high-density lipoprotein particle binding (GO:0008035)|lipid binding (GO:0008289)|lipoprotein particle binding (GO:0071813)|lipoteichoic acid receptor activity (GO:0070892)|low-density lipoprotein particle binding (GO:0030169)|low-density lipoprotein receptor activity (GO:0005041)|thrombospondin receptor activity (GO:0070053)|transforming growth factor beta binding (GO:0050431)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(10)|large_intestine(1)|lung(6)|ovary(1)	21						AAGTCAAAATCTTCTATGTTC	0.368																																						ENST00000435819.1																			0				breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(10)|large_intestine(1)|lung(6)|ovary(1)	21						c.(499-501)tCt>tTt		CD36 molecule (thrombospondin receptor)							150	143	145					7																	80292376		2203	4300	6503	SO:0001583	missense	948				cell adhesion|cGMP-mediated signaling|cholesterol transport|lipid metabolic process|lipid storage|lipoprotein transport|low-density lipoprotein particle clearance|nitric oxide mediated signal transduction|plasma membrane long-chain fatty acid transport|platelet activation|platelet degranulation|positive regulation of cell-matrix adhesion|positive regulation of macrophage derived foam cell differentiation	integral to plasma membrane|membrane fraction|platelet alpha granule membrane	lipid binding|low-density lipoprotein receptor activity|thrombospondin receptor activity|transforming growth factor beta binding	g.chr7:80292376C>T	Z32770	CCDS34673.1	7q11.2	2010-02-26	2006-03-28		ENSG00000135218	ENSG00000135218		"CD molecules"	1663	protein-coding gene	gene with protein product		173510	"CD36 antigen (collagen type I receptor, thrombospondin receptor)"			7503937	Standard	NM_001001548		Approved	SCARB3, GPIV, FAT, GP4, GP3B	uc003uhg.4	P16671	OTTHUMG00000155383	ENST00000435819.1:c.500C>T	7.37:g.80292376C>T	ENSP00000399421:p.Ser167Phe					CD36_ENST00000538969.1_Intron|CD36_ENST00000433696.2_Missense_Mutation_p.S167F|CD36_ENST00000447544.2_Missense_Mutation_p.S167F|CD36_ENST00000309881.7_Missense_Mutation_p.S167F|CD36_ENST00000432207.1_Missense_Mutation_p.S167F|CD36_ENST00000534394.1_Missense_Mutation_p.S91F|CD36_ENST00000544133.1_Missense_Mutation_p.S167F|CD36_ENST00000394788.3_Missense_Mutation_p.S167F	p.S167F			P16671	CD36_HUMAN			9	1184	+			167					D9IX66|D9IX67|D9IX68|D9IX69|Q13966|Q16093|Q8TCV7|Q9BPZ8|Q9BQC2|Q9BZM8|Q9BZN3|Q9BZN4|Q9BZN5	Missense_Mutation	SNP	ENST00000435819.1	37	c.500C>T	CCDS34673.1	.	.	.	.	.	.	.	.	.	.	C	24.7	4.560849	0.86335	.	.	ENSG00000135218	ENST00000435819;ENST00000309881;ENST00000534394;ENST00000394788;ENST00000447544;ENST00000432207;ENST00000413265;ENST00000419819;ENST00000544133;ENST00000433696	T;T;T;T;T;T;T;T;T;T	0.73363	-0.74;-0.74;-0.74;-0.74;-0.74;-0.74;-0.74;-0.74;-0.74;-0.74	5.06	5.06	0.68205	.	0.159405	0.53938	D	0.000053	D	0.87006	0.6070	M	0.86028	2.79	0.58432	D	0.999999	D	0.57257	0.979	D	0.65140	0.932	D	0.88400	0.3014	9	.	.	.	-26.2671	18.0879	0.89463	0.0:1.0:0.0:0.0	.	167	P16671	CD36_HUMAN	F	167;167;91;167;167;167;167;167;167;167	ENSP00000399421:S167F;ENSP00000308165:S167F;ENSP00000431296:S91F;ENSP00000378268:S167F;ENSP00000415743:S167F;ENSP00000411411:S167F;ENSP00000407690:S167F;ENSP00000392298:S167F;ENSP00000441956:S167F;ENSP00000401863:S167F	.	S	+	2	0	CD36	80130312	0.994000	0.37717	0.999000	0.59377	0.984000	0.73092	3.436000	0.52856	2.349000	0.79799	0.644000	0.83932	TCT		0.368	CD36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339767.6	NM_001001547		42	57	0	0	0	1	0	42	57					T	80292376	C	T	80292376	3	4	435	1	0	0	0	0	1	0	0	0	3007	913	32	3	514	3	CD36	7	80292376	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	2527902	80292376	78846287	3627	24552											
SEMA3C	10512	broad.mit.edu	37	chr7	80433528	80433528	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tagcatcatttggatcagtaCcatctgggatgacatgtgca	11	12	10	8	0	3	1	2	1	1	0	3	3	3	3	1	2	3	3	1	2	2	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:80433528C>T	ENST00000265361.3	-	8	1256	c.695G>A	c.(694-696)gGt>gAt	p.G232D	SEMA3C_ENST00000544525.1_Missense_Mutation_p.G250D|SEMA3C_ENST00000536800.1_Missense_Mutation_p.G84D|SEMA3C_ENST00000419255.2_Missense_Mutation_p.G232D	NM_006379.3	NP_006370.1	Q99985	SEM3C_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3C	232	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|blood vessel remodeling (GO:0001974)|cardiac right ventricle morphogenesis (GO:0003215)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|immune response (GO:0006955)|limb bud formation (GO:0060174)|neural crest cell migration (GO:0001755)|neural tube development (GO:0021915)|outflow tract morphogenesis (GO:0003151)|post-embryonic development (GO:0009791)|pulmonary myocardium development (GO:0003350)|response to drug (GO:0042493)|somitogenesis (GO:0001756)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	receptor activity (GO:0004872)			NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						TGGATCAGTACCATCTGGGAT	0.358																																						ENST00000265361.3																			0				NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						c.(694-696)gGt>gAt		sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3C							142	131	135					7																	80433528		2203	4300	6503	SO:0001583	missense	10512				immune response|response to drug	membrane	receptor activity	g.chr7:80433528C>T	AB000220	CCDS5596.1	7q21-q31	2013-01-11			ENSG00000075223	ENSG00000075223		"Semaphorins", "Immunoglobulin superfamily / I-set domain containing"	10725	protein-coding gene	gene with protein product		602645		SEMAE		7748561, 9168980	Standard	NM_006379		Approved	SemE	uc003uhj.3	Q99985	OTTHUMG00000023447	ENST00000265361.3:c.695G>A	7.37:g.80433528C>T	ENSP00000265361:p.Gly232Asp					SEMA3C_ENST00000544525.1_Missense_Mutation_p.G250D|SEMA3C_ENST00000536800.1_Missense_Mutation_p.G84D|SEMA3C_ENST00000419255.2_Missense_Mutation_p.G232D	p.G232D	NM_006379.3	NP_006370.1	Q99985	SEM3C_HUMAN			8	1256	-			232			Sema.		B4DRL8	Missense_Mutation	SNP	ENST00000265361.3	37	c.695G>A	CCDS5596.1	.	.	.	.	.	.	.	.	.	.	C	28.9	4.961347	0.92791	.	.	ENSG00000075223	ENST00000265361;ENST00000419255;ENST00000544525;ENST00000536800	T;T;T;T	0.21734	1.99;1.99;1.99;1.99	5.71	5.71	0.89125	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.000000	0.85682	D	0.000000	T	0.40171	0.1106	L	0.39245	1.2	0.80722	D	1	P;D;D	0.63046	0.902;0.992;0.988	B;D;D	0.67231	0.439;0.917;0.95	T	0.09640	-1.0665	10	0.72032	D	0.01	.	19.8695	0.96845	0.0:1.0:0.0:0.0	.	84;250;232	B4DRL8;F5H1Z7;Q99985	.;.;SEM3C_HUMAN	D	232;232;250;84	ENSP00000265361:G232D;ENSP00000411193:G232D;ENSP00000445649:G250D;ENSP00000438258:G84D	ENSP00000265361:G232D	G	-	2	0	SEMA3C	80271464	1.000000	0.71417	1.000000	0.80357	0.917000	0.54804	7.794000	0.85869	2.684000	0.91462	0.650000	0.86243	GGT		0.358	SEMA3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253279.1	NM_006379		23	30	0	0	0	1	0	23	30					T	80433528	C	T	80433528	3	4	435	1	0	0	0	0	1	0	0	0	14026	507	18	3	1604	3	SEMA3C	7	80433528	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	141152	80433528	78705135	3628	24553											
HGF	3082	broad.mit.edu	37	chr7	81381467	81381467	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgaggaatgtcacagacttcGtagcgtacctctggattgct	9	12	11	9	2	2	2	1	1	1	1	3	4	2	4	1	2	3	3	1	2	3	4	rs143891160		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:81381467G>A	ENST00000222390.5	-	5	820	c.594C>T	c.(592-594)taC>taT	p.Y198Y	HGF_ENST00000457544.2_Silent_p.Y193Y|HGF_ENST00000453411.1_Silent_p.Y193Y|HGF_ENST00000444829.2_Silent_p.Y198Y|HGF_ENST00000423064.2_Silent_p.Y198Y	NM_000601.4	NP_000592.3	P14210	HGF_HUMAN	hepatocyte growth factor (hepapoietin A; scatter factor)	198	Kringle 1. {ECO:0000255|PROSITE- ProRule:PRU00121}.				activation of MAPK activity (GO:0000187)|blood coagulation (GO:0007596)|cell chemotaxis (GO:0060326)|cellular response to hepatocyte growth factor stimulus (GO:0035729)|epithelial to mesenchymal transition (GO:0001837)|hepatocyte growth factor receptor signaling pathway (GO:0048012)|hyaluronan metabolic process (GO:0030212)|liver development (GO:0001889)|mitotic nuclear division (GO:0007067)|myoblast proliferation (GO:0051450)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of hydrogen peroxide-mediated programmed cell death (GO:1901299)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|organ regeneration (GO:0031100)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive chemotaxis (GO:0050918)|positive regulation of cell migration (GO:0030335)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling (GO:0060665)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|platelet alpha granule lumen (GO:0031093)	catalytic activity (GO:0003824)|chemoattractant activity (GO:0042056)|growth factor activity (GO:0008083)|identical protein binding (GO:0042802)			NS(2)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(41)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	75						CACAGACTTCGTAGCGTACCT	0.468																																						ENST00000222390.5																			0				NS(2)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(41)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	75						c.(592-594)taC>taT		hepatocyte growth factor (hepapoietin A; scatter factor)		G	,,,,	0,4406		0,0,2203	148	127	134		594,594,579,579,594	5.1	1	7	dbSNP_134	134	2,8596	2.2+/-6.3	0,2,4297	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	HGF	NM_000601.4,NM_001010931.1,NM_001010932.1,NM_001010933.1,NM_001010934.1	,,,,	0,2,6500	AA,AG,GG		0.0233,0.0,0.0154	,,,,	198/729,198/291,193/724,193/286,198/211	81381467	2,13002	2203	4299	6502	SO:0001819	synonymous_variant	3082				epithelial to mesenchymal transition|mitosis|platelet activation|platelet degranulation|proteolysis|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling	platelet alpha granule lumen	growth factor activity|serine-type endopeptidase activity	g.chr7:81381467G>A		CCDS5597.1, CCDS47626.1, CCDS47627.1, CCDS47628.1, CCDS47629.1	7q21.1	2009-09-11			ENSG00000019991	ENSG00000019991			4893	protein-coding gene	gene with protein product	"hepatopoietin A", "fibroblast-derived tumor cytotoxic factor", "scatter factor", "lung fibroblast-derived mitogen"	142409	"deafness, autosomal recessive 39"	DFNB39		1837206, 19576567	Standard	XM_006715956		Approved	SF, F-TCF, HGFB, HPTA	uc003uhl.3	P14210	OTTHUMG00000023804	ENST00000222390.5:c.594C>T	7.37:g.81381467G>A						HGF_ENST00000453411.1_Silent_p.Y193Y|HGF_ENST00000457544.2_Silent_p.Y193Y|HGF_ENST00000444829.2_Silent_p.Y198Y|HGF_ENST00000423064.2_Silent_p.Y198Y	p.Y198Y	NM_000601.4	NP_000592.3	P14210	HGF_HUMAN			5	820	-			198			Kringle 1.		A1L3U6|Q02935|Q13494|Q14519|Q3KRB2|Q8TCE2|Q9BYL9|Q9BYM0|Q9UDU6	Silent	SNP	ENST00000222390.5	37	c.594C>T	CCDS5597.1																																																																																				0.468	HGF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253315.2	NM_000601		18	38	0	0	0	1	0	18	38					A	81381467	G	A	81381467	2	1	435	1	0	0	0	0	0	0	0	1	7085	1140	40	1		1	HGF	7	81381467	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	947939	81381467	77757196	3629	24554											
CACNA2D1	781	broad.mit.edu	37	chr7	81626555	81626555	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccaatgttactggctcctgAgatttggggttctacacaga	9	13	10	9	0	1	2	0	1	1	2	3	3	3	2	2	3	2	3	2	3	3	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:81626555A>T	ENST00000356253.5	-	20	1914	c.1659T>A	c.(1657-1659)tcT>tcA	p.S553S	CACNA2D1_ENST00000356860.3_Silent_p.S534S			P54289	CA2D1_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 1	553	Cache.				calcium ion transport (GO:0006816)|regulation of calcium ion transport (GO:0051924)	extracellular vesicular exosome (GO:0070062)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)|voltage-gated calcium channel complex (GO:0005891)	metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	81					Amlodipine(DB00381)|Cyclandelate(DB04838)|Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)	CTGGCTCCTGAGATTTGGGGT	0.343																																						ENST00000356860.3																			0				breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	81						c.(1600-1602)tcT>tcA		calcium channel, voltage-dependent, alpha 2/delta subunit 1	Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)						161	160	160					7																	81626555		2203	4300	6503	SO:0001819	synonymous_variant	781					voltage-gated calcium channel complex	metal ion binding	g.chr7:81626555A>T	M76559	CCDS5598.1	7q21-q22	2014-09-17			ENSG00000153956	ENSG00000153956		"Calcium channel subunits"	1399	protein-coding gene	gene with protein product		114204	"long intergenic non-protein coding RNA 1112"	CACNL2A, CACNA2, MHS3, LINC01112		8188232	Standard	XM_005250570		Approved	lncRNA-N3	uc003uhr.1	P54289	OTTHUMG00000023622	ENST00000356253.5:c.1659T>A	7.37:g.81626555A>T						CACNA2D1_ENST00000356253.5_Silent_p.S553S	p.S534S	NM_000722.2	NP_000713.2	P54289	CA2D1_HUMAN			19	1940	-			553			Cache.		Q17R45|Q9UD80|Q9UD81|Q9UD82	Silent	SNP	ENST00000356253.5	37	c.1602T>A																																																																																					0.343	CACNA2D1-201	KNOWN	basic	protein_coding	protein_coding				37	54	0	0	0	1	0	37	54					T	81626555	A	T	81626555	2	4	435	1	0	0	0	0	0	0	0	1	2548	291	11	5		5	CACNA2D1	7	81626555	Silent	SNP	A	TCGA-XK-AAIW-01A-11D-A41K-08	245088	81626555	77512108	3630	24555											
PCLO	27445	broad.mit.edu	37	chr7	82544757	82544757	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	actgcttttgataaagtatgGctgctggcagttgttttgct	7	17	11	6	0	0	1	0	1	0	0	0	1	0	1	0	2	3	8	0	2	3	7			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:82544757G>A	ENST00000333891.9	-	7	12882	c.12545C>T	c.(12544-12546)gCc>gTc	p.A4182V	PCLO_ENST00000437081.1_Missense_Mutation_p.A902V|PCLO_ENST00000423517.2_Missense_Mutation_p.A4182V	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein											breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						ATAAAGTATGGCTGCTGGCAG	0.363																																						ENST00000423517.2																			0				breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						c.(12544-12546)gCc>gTc		piccolo presynaptic cytomatrix protein							93	88	89					7																	82544757		1876	4111	5987	SO:0001583	missense	27445				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	g.chr7:82544757G>A	AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"aczonin"	604918	"piccolo (presynaptic cytomatrix protein)"			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.12545C>T	7.37:g.82544757G>A	ENSP00000334319:p.Ala4182Val					PCLO_ENST00000333891.8_Missense_Mutation_p.A4182V|PCLO_ENST00000437081.1_Missense_Mutation_p.A902V	p.A4182V	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN			7	12882	-			4113						Missense_Mutation	SNP	ENST00000333891.9	37	c.12545C>T	CCDS47630.1	.	.	.	.	.	.	.	.	.	.	G	19.89	3.910828	0.72983	.	.	ENSG00000186472	ENST00000333891;ENST00000423517;ENST00000437081	T;T	0.38560	1.13;1.15	5.49	5.49	0.81192	.	.	.	.	.	T	0.65913	0.2737	M	0.71036	2.16	0.58432	D	0.999995	D;D;D	0.89917	0.996;1.0;1.0	P;D;D	0.74674	0.877;0.984;0.984	T	0.68507	-0.5390	9	0.87932	D	0	.	19.4366	0.94798	0.0:0.0:1.0:0.0	.	4113;4182;4182	Q9Y6V0;Q9Y6V0-5;Q9Y6V0-6	PCLO_HUMAN;.;.	V	4182;4182;902	ENSP00000334319:A4182V;ENSP00000388393:A4182V	ENSP00000334319:A4182V	A	-	2	0	PCLO	82382693	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	9.865000	0.99609	2.592000	0.87571	0.454000	0.30748	GCC		0.363	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510		5	54	0	0	0	1	0	5	54					A	82544757	G	A	82544757	3	1	435	1	0	0	0	0	1	0	0	0	11583	1203	42	3	2976	3	PCLO	7	82544757	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	918202	82544757	76593906	3631	24556											
PCLO	27445	broad.mit.edu	37	chr7	82582023	82582023	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttttcacatccattgtagaaGcagaaagatcaatacattta	16	13	5	7	0	2	3	2	0	0	3	3	3	3	3	1	0	2	2	1	0	6	7			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:82582023G>T	ENST00000333891.9	-	5	8583	c.8246C>A	c.(8245-8247)gCt>gAt	p.A2749D	PCLO_ENST00000437081.1_5'Flank|PCLO_ENST00000423517.2_Missense_Mutation_p.A2749D	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein											breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						CATTGTAGAAGCAGAAAGATC	0.343																																						ENST00000423517.2																			0				breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						c.(8245-8247)gCt>gAt		piccolo presynaptic cytomatrix protein							76	74	74					7																	82582023		1883	4115	5998	SO:0001583	missense	27445				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	g.chr7:82582023G>T	AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"aczonin"	604918	"piccolo (presynaptic cytomatrix protein)"			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.8246C>A	7.37:g.82582023G>T	ENSP00000334319:p.Ala2749Asp					PCLO_ENST00000333891.8_Missense_Mutation_p.A2749D	p.A2749D	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN			5	8583	-			2680						Missense_Mutation	SNP	ENST00000333891.9	37	c.8246C>A	CCDS47630.1	.	.	.	.	.	.	.	.	.	.	G	8.910	0.958378	0.18507	.	.	ENSG00000186472	ENST00000431819;ENST00000333891;ENST00000423517	T;T	0.19669	2.13;2.15	5.54	3.68	0.42216	.	.	.	.	.	T	0.21761	0.0524	L	0.54323	1.7	0.80722	D	1	B;B	0.17667	0.023;0.023	B;B	0.16722	0.016;0.016	T	0.05886	-1.0858	9	0.87932	D	0	.	10.836	0.46688	0.069:0.0:0.8019:0.1291	.	2749;2749	Q9Y6V0-5;Q9Y6V0-6	.;.	D	2680;2749;2749	ENSP00000334319:A2749D;ENSP00000388393:A2749D	ENSP00000334319:A2749D	A	-	2	0	PCLO	82419959	1.000000	0.71417	0.862000	0.33874	0.729000	0.41735	7.605000	0.82844	1.289000	0.44618	0.655000	0.94253	GCT		0.343	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510		6	47	1	0	0.0215528	1	0.0217053	6	47					T	82582023	G	T	82582023	3	4	435	1	0	0	0	0	1	0	0	0	11583	971	34	5	7283	5	PCLO	7	82582023	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	37266	82582023	76556640	3632	24557											
PCLO	27445	broad.mit.edu	37	chr7	82582879	82582879	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acttctcagaacagctgtggTctctagagtagtaacagcat	12	11	9	9	0	2	2	1	0	2	2	4	2	2	2	0	1	4	4	0	1	4	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:82582879T>C	ENST00000333891.9	-	5	7727	c.7390A>G	c.(7390-7392)Acc>Gcc	p.T2464A	PCLO_ENST00000437081.1_5'Flank|PCLO_ENST00000423517.2_Missense_Mutation_p.T2464A	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein											breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						ACAGCTGTGGTCTCTAGAGTA	0.408																																						ENST00000423517.2																			0				breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						c.(7390-7392)Acc>Gcc		piccolo presynaptic cytomatrix protein							105	106	105					7																	82582879		1940	4141	6081	SO:0001583	missense	27445				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	g.chr7:82582879T>C	AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"aczonin"	604918	"piccolo (presynaptic cytomatrix protein)"			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.7390A>G	7.37:g.82582879T>C	ENSP00000334319:p.Thr2464Ala					PCLO_ENST00000333891.8_Missense_Mutation_p.T2464A	p.T2464A	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN			5	7727	-			2395			Pro-rich.			Missense_Mutation	SNP	ENST00000333891.9	37	c.7390A>G	CCDS47630.1	.	.	.	.	.	.	.	.	.	.	T	12.42	1.933400	0.34096	.	.	ENSG00000186472	ENST00000431819;ENST00000333891;ENST00000423517	T;T	0.14516	2.5;2.5	4.52	-0.728	0.11162	.	.	.	.	.	T	0.03263	0.0095	N	0.00436	-1.5	0.09310	N	0.999998	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.39210	-0.9625	9	0.87932	D	0	.	5.2039	0.15279	0.1834:0.5376:0.0:0.279	.	2464;2464	Q9Y6V0-5;Q9Y6V0-6	.;.	A	2395;2464;2464	ENSP00000334319:T2464A;ENSP00000388393:T2464A	ENSP00000334319:T2464A	T	-	1	0	PCLO	82420815	0.884000	0.30299	0.707000	0.30419	0.685000	0.39939	0.692000	0.25482	-0.094000	0.12374	0.397000	0.26171	ACC		0.408	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510		12	11	0	0	0	1	0	12	11					C	82582879	T	C	82582879	3	2	435	1	0	0	0	0	1	0	0	0	11583	1667	58	4	8139	4	PCLO	7	82582879	Missense_Mutation	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	856	82582879	76555784	3633	24558											
PCLO	27445	broad.mit.edu	37	chr7	82584469	82584469	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cacttcatctcgttcatttgCagctggaaaagctttgtatt	9	16	7	9	1	3	0	2	0	1	0	4	1	3	1	0	1	3	5	0	1	3	6			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:82584469C>T	ENST00000333891.9	-	5	6137	c.5800G>A	c.(5800-5802)Gca>Aca	p.A1934T	PCLO_ENST00000423517.2_Missense_Mutation_p.A1934T	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein											breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						CGTTCATTTGCAGCTGGAAAA	0.358																																						ENST00000423517.2																			0				breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						c.(5800-5802)Gca>Aca		piccolo presynaptic cytomatrix protein							59	57	57					7																	82584469		1856	4084	5940	SO:0001583	missense	27445				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	g.chr7:82584469C>T	AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"aczonin"	604918	"piccolo (presynaptic cytomatrix protein)"			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.5800G>A	7.37:g.82584469C>T	ENSP00000334319:p.Ala1934Thr					PCLO_ENST00000333891.8_Missense_Mutation_p.A1934T	p.A1934T	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN			5	6137	-			1865						Missense_Mutation	SNP	ENST00000333891.9	37	c.5800G>A	CCDS47630.1	.	.	.	.	.	.	.	.	.	.	C	6.222	0.409132	0.11812	.	.	ENSG00000186472	ENST00000431819;ENST00000333891;ENST00000423517	T;T	0.16196	2.36;2.36	4.86	2.97	0.34412	.	.	.	.	.	T	0.12305	0.0299	L	0.34521	1.04	0.42293	D	0.992145	B;B	0.10296	0.003;0.003	B;B	0.11329	0.006;0.006	T	0.08411	-1.0723	9	0.87932	D	0	.	5.9686	0.19338	0.2035:0.6013:0.1181:0.0771	.	1934;1934	Q9Y6V0-5;Q9Y6V0-6	.;.	T	1865;1934;1934	ENSP00000334319:A1934T;ENSP00000388393:A1934T	ENSP00000334319:A1934T	A	-	1	0	PCLO	82422405	0.000000	0.05858	1.000000	0.80357	0.853000	0.48598	-1.504000	0.02275	1.275000	0.44379	0.655000	0.94253	GCA		0.358	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510		6	27	0	0	0	1	0	6	27					T	82584469	C	T	82584469	3	4	435	1	0	0	0	0	1	0	0	0	11583	710	25	3	9729	3	PCLO	7	82584469	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	1590	82584469	76554194	3634	24559											
PCLO	27445	broad.mit.edu	37	chr7	82585993	82585993	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgacttttcatcagcaagtgTacttgcttgagcttccaaaa	11	14	7	9	0	2	2	2	2	0	0	3	2	3	2	1	0	4	4	1	0	4	6	rs371527843		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:82585993T>C	ENST00000333891.9	-	5	4613	c.4276A>G	c.(4276-4278)Aca>Gca	p.T1426A	PCLO_ENST00000423517.2_Missense_Mutation_p.T1426A	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein											breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TCAGCAAGTGTACTTGCTTGA	0.403																																						ENST00000423517.2																			0				breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						c.(4276-4278)Aca>Gca		piccolo presynaptic cytomatrix protein		T	ALA/THR,ALA/THR	0,3654		0,0,1827	132	120	124		4276,4276	3	1	7		124	1,8155		0,1,4077	no	missense,missense	PCLO	NM_033026.5,NM_014510.2	58,58	0,1,5904	CC,CT,TT		0.0123,0.0,0.0085	benign,benign	1426/5143,1426/4936	82585993	1,11809	1827	4078	5905	SO:0001583	missense	27445				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	g.chr7:82585993T>C	AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"aczonin"	604918	"piccolo (presynaptic cytomatrix protein)"			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.4276A>G	7.37:g.82585993T>C	ENSP00000334319:p.Thr1426Ala					PCLO_ENST00000333891.8_Missense_Mutation_p.T1426A	p.T1426A	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN			5	4613	-			1357						Missense_Mutation	SNP	ENST00000333891.9	37	c.4276A>G	CCDS47630.1	.	.	.	.	.	.	.	.	.	.	T	9.452	1.090889	0.20471	0.0	1.23E-4	ENSG00000186472	ENST00000431819;ENST00000333891;ENST00000423517	T;T	0.16324	2.35;2.35	5.62	2.98	0.34508	.	.	.	.	.	T	0.13970	0.0338	L	0.43152	1.355	0.58432	D	0.999999	B;B	0.14438	0.01;0.01	B;B	0.13407	0.009;0.009	T	0.06698	-1.0812	9	0.87932	D	0	.	5.9953	0.19491	0.1322:0.1444:0.0:0.7233	.	1426;1426	Q9Y6V0-5;Q9Y6V0-6	.;.	A	1357;1426;1426	ENSP00000334319:T1426A;ENSP00000388393:T1426A	ENSP00000334319:T1426A	T	-	1	0	PCLO	82423929	1.000000	0.71417	0.965000	0.40720	0.758000	0.43043	2.407000	0.44565	0.971000	0.38288	0.533000	0.62120	ACA		0.403	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510		23	17	0	0	0	1	0	23	17					C	82585993	T	C	82585993	3	2	435	1	0	0	0	0	1	0	0	0	11583	1638	57	4	11253	4	PCLO	7	82585993	Missense_Mutation	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	1524	82585993	76552670	3635	24560											
PCLO	27445	broad.mit.edu	37	chr7	82595421	82595421	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtggctttttttcttcagaaCgtatcttttcttcttcaggg	5	20	8	8	1	6	1	2	0	4	1	6	1	6	1	0	2	1	2	0	2	2	9			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:82595421C>T	ENST00000333891.9	-	4	4020	c.3683G>A	c.(3682-3684)cGt>cAt	p.R1228H	PCLO_ENST00000423517.2_Missense_Mutation_p.R1228H	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein											breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TTCTTCAGAACGTATCTTTTC	0.393																																						ENST00000423517.2																			0				breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						c.(3682-3684)cGt>cAt		piccolo presynaptic cytomatrix protein							204	196	199					7																	82595421		1799	4068	5867	SO:0001583	missense	27445				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	g.chr7:82595421C>T	AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"aczonin"	604918	"piccolo (presynaptic cytomatrix protein)"			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.3683G>A	7.37:g.82595421C>T	ENSP00000334319:p.Arg1228His					PCLO_ENST00000333891.8_Missense_Mutation_p.R1228H	p.R1228H	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN			4	4020	-			1167						Missense_Mutation	SNP	ENST00000333891.9	37	c.3683G>A	CCDS47630.1	.	.	.	.	.	.	.	.	.	.	C	8.200	0.797882	0.16327	.	.	ENSG00000186472	ENST00000431819;ENST00000333891;ENST00000423517	T;T	0.16196	2.36;2.36	3.47	-4.28	0.03732	.	.	.	.	.	T	0.06234	0.0161	N	0.08118	0	0.09310	N	1	P;P	0.44044	0.825;0.825	B;B	0.33890	0.172;0.172	T	0.29549	-1.0008	9	0.87932	D	0	.	7.5442	0.27757	0.2406:0.4558:0.3036:0.0	.	1228;1228	Q9Y6V0-5;Q9Y6V0-6	.;.	H	1167;1228;1228	ENSP00000334319:R1228H;ENSP00000388393:R1228H	ENSP00000334319:R1228H	R	-	2	0	PCLO	82433357	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.424000	0.07025	-1.023000	0.03342	-0.165000	0.13383	CGT		0.393	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510		65	80	0	0	0	1	0	65	80					T	82595421	C	T	82595421	3	4	435	1	0	0	0	0	1	0	0	0	11583	536	19	1	11850	1	PCLO	7	82595421	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	9428	82595421	76543242	3636	24561											
PCLO	27445	broad.mit.edu	37	chr7	82764162	82764162	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attcagactgaaacgccttgActgctcctgaggctttgggg	8	11	12	10	1	1	4	1	3	0	1	2	4	2	4	2	3	2	2	2	3	1	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:82764162A>G	ENST00000333891.9	-	3	3041	c.2704T>C	c.(2704-2706)Tca>Cca	p.S902P	PCLO_ENST00000423517.2_Missense_Mutation_p.S902P	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein											breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						AAACGCCTTGACTGCTCCTGA	0.547																																						ENST00000423517.2																			0				breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						c.(2704-2706)Tca>Cca		piccolo presynaptic cytomatrix protein							158	156	157					7																	82764162		1967	4158	6125	SO:0001583	missense	27445				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	g.chr7:82764162A>G	AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"aczonin"	604918	"piccolo (presynaptic cytomatrix protein)"			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.2704T>C	7.37:g.82764162A>G	ENSP00000334319:p.Ser902Pro					PCLO_ENST00000333891.8_Missense_Mutation_p.S902P	p.S902P	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN			3	3041	-			848			Pro-rich.			Missense_Mutation	SNP	ENST00000333891.9	37	c.2704T>C	CCDS47630.1	.	.	.	.	.	.	.	.	.	.	A	10.75	1.438432	0.25900	.	.	ENSG00000186472	ENST00000431819;ENST00000333891;ENST00000423517	T;T	0.17213	2.29;2.29	5.97	2.11	0.27256	.	.	.	.	.	T	0.15392	0.0371	M	0.63428	1.95	0.80722	D	1	B;B	0.06786	0.001;0.001	B;B	0.12156	0.004;0.007	T	0.14643	-1.0465	9	0.87932	D	0	.	2.0508	0.03571	0.5942:0.1372:0.1376:0.131	.	902;902	Q9Y6V0-5;Q9Y6V0-6	.;.	P	848;902;902	ENSP00000334319:S902P;ENSP00000388393:S902P	ENSP00000334319:S902P	S	-	1	0	PCLO	82602098	0.004000	0.15560	0.985000	0.45067	0.975000	0.68041	0.115000	0.15540	0.500000	0.27991	0.533000	0.62120	TCA		0.547	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510		41	81	0	0	0	1	0	41	81					G	82764162	A	G	82764162	3	3	435	1	0	0	0	0	1	0	0	0	11583	275	10	4	12833	4	PCLO	7	82764162	Missense_Mutation	SNP	A	TCGA-XK-AAIW-01A-11D-A41K-08	168741	82764162	76374501	3637	24562											
SEMA3E	9723	broad.mit.edu	37	chr7	82997121	82997121	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	taccatggttttgctccctgCgagatgctactctgagcagg	7	12	11	11	1	1	2	0	1	1	1	2	3	2	2	2	2	6	4	2	2	2	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:82997121C>T	ENST00000307792.3	-	17	2576	c.2109G>A	c.(2107-2109)tcG>tcA	p.S703S	SEMA3E_ENST00000427262.1_Silent_p.S643S	NM_012431.2	NP_036563.1	O15041	SEM3E_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E	703					axon guidance (GO:0007411)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell-matrix adhesion (GO:0001953)|patterning of blood vessels (GO:0001569)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of cell shape (GO:0008360)|semaphorin-plexin signaling pathway (GO:0071526)|sprouting angiogenesis (GO:0002040)|synapse organization (GO:0050808)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)	receptor activity (GO:0004872)			breast(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(19)|ovary(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	51		Medulloblastoma(109;0.109)				TTGCTCCCTGCGAGATGCTAC	0.478																																						ENST00000307792.3																			0				breast(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(19)|ovary(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	51						c.(2107-2109)tcG>tcA		sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E							138	122	127					7																	82997121		2203	4300	6503	SO:0001819	synonymous_variant	9723				axon guidance	extracellular space|membrane	receptor activity	g.chr7:82997121C>T	AB002329	CCDS34674.1, CCDS55121.1	7q21.11	2013-01-11			ENSG00000170381	ENSG00000170381		"Semaphorins", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	10727	protein-coding gene	gene with protein product	"M-sema H"	608166		SEMAH		9205841, 9515811	Standard	NM_012431		Approved	M-SemaK, KIAA0331, coll-5	uc003uhy.2	O15041	OTTHUMG00000154693	ENST00000307792.3:c.2109G>A	7.37:g.82997121C>T						SEMA3E_ENST00000427262.1_Silent_p.S643S	p.S703S	NM_012431.2	NP_036563.1	O15041	SEM3E_HUMAN			17	2576	-		Medulloblastoma(109;0.109)	703					B4E1P1|Q75M94|Q75M97	Silent	SNP	ENST00000307792.3	37	c.2109G>A	CCDS34674.1																																																																																				0.478	SEMA3E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336606.1	NM_012431		41	65	0	0	0	1	0	41	65					T	82997121	C	T	82997121	2	4	435	1	0	0	0	0	0	0	0	1	14028	755	27	1		1	SEMA3E	7	82997121	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	232959	82997121	76141542	3638	24563											
SEMA3D	223117	broad.mit.edu	37	chr7	84628868	84628868	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggccccccttgtttctctgtCtccgcttctccctgtgccac	1	14	7	19	1	3	0	0	0	3	0	6	0	3	0	6	1	1	2	6	1	0	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:84628868C>A	ENST00000284136.6	-	17	2265	c.2222G>T	c.(2221-2223)aGa>aTa	p.R741I	SEMA3D_ENST00000484038.1_5'UTR	NM_152754.2	NP_689967.2	O95025	SEM3D_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3D	741	Arg/Lys-rich (basic).				cell differentiation (GO:0030154)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|membrane (GO:0016020)	receptor activity (GO:0004872)			NS(1)|breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(19)|lung(29)|ovary(3)|pancreas(1)|prostate(4)|skin(2)	73						GTTTCTCTGTCTCCGCTTCTC	0.502																																					Ovarian(63;442 1191 17318 29975 31528)	ENST00000284136.6																			0				NS(1)|breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(19)|lung(29)|ovary(3)|pancreas(1)|prostate(4)|skin(2)	73						c.(2221-2223)aGa>aTa		sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3D							170	143	152					7																	84628868		2203	4300	6503	SO:0001583	missense	223117				cell differentiation|nervous system development	extracellular region|membrane	receptor activity	g.chr7:84628868C>A	BC029590	CCDS34676.1	7q21.11	2013-01-11			ENSG00000153993	ENSG00000153993		"Semaphorins", "Immunoglobulin superfamily / V-set domain containing"	10726	protein-coding gene	gene with protein product		609907					Standard	NM_152754		Approved	coll-2, Sema-Z2	uc003uic.3	O95025	OTTHUMG00000154569	ENST00000284136.6:c.2222G>T	7.37:g.84628868C>A	ENSP00000284136:p.Arg741Ile					SEMA3D_ENST00000484038.1_5'UTR	p.R741I	NM_152754.2	NP_689967.2	O95025	SEM3D_HUMAN			17	2265	-			741			Arg/Lys-rich (basic).		A6NK46|Q6UW77|Q8NCQ1	Missense_Mutation	SNP	ENST00000284136.6	37	c.2222G>T	CCDS34676.1	.	.	.	.	.	.	.	.	.	.	C	17.07	3.295423	0.60086	.	.	ENSG00000153993	ENST00000284136	T	0.33438	1.41	5.93	5.04	0.67666	.	0.357993	0.27851	N	0.017588	T	0.48040	0.1478	L	0.43152	1.355	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.36866	-0.9730	10	0.56958	D	0.05	.	15.5263	0.75910	0.0:0.9328:0.0:0.0672	.	741	O95025	SEM3D_HUMAN	I	741	ENSP00000284136:R741I	ENSP00000284136:R741I	R	-	2	0	SEMA3D	84466804	0.997000	0.39634	1.000000	0.80357	0.992000	0.81027	2.854000	0.48325	2.814000	0.96858	0.655000	0.94253	AGA		0.502	SEMA3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336084.2	NM_152754		8	62	1	0	0.000157383	1	0.000161063	8	62					A	84628868	C	A	84628868	3	1	435	1	0	0	0	0	1	0	0	0	14027	913	32	5	115	5	SEMA3D	7	84628868	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	1631747	84628868	74509795	3639	24564											
SEMA3D	223117	broad.mit.edu	37	chr7	84644455	84644455	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctggcaagacaacagtctgcGcaagctttcccataagtgtc	11	9	9	12	1	1	1	0	0	1	1	3	1	2	1	1	1	3	3	1	1	4	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:84644455G>A	ENST00000284136.6	-	14	1666	c.1623C>T	c.(1621-1623)tgC>tgT	p.C541C	SEMA3D_ENST00000484038.1_5'UTR	NM_152754.2	NP_689967.2	O95025	SEM3D_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3D	541	PSI.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|membrane (GO:0016020)	receptor activity (GO:0004872)			NS(1)|breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(19)|lung(29)|ovary(3)|pancreas(1)|prostate(4)|skin(2)	73						AACAGTCTGCGCAAGCTTTCC	0.478																																					Ovarian(63;442 1191 17318 29975 31528)	ENST00000284136.6																			0				NS(1)|breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(19)|lung(29)|ovary(3)|pancreas(1)|prostate(4)|skin(2)	73						c.(1621-1623)tgC>tgT		sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3D							140	128	132					7																	84644455		2203	4300	6503	SO:0001819	synonymous_variant	223117				cell differentiation|nervous system development	extracellular region|membrane	receptor activity	g.chr7:84644455G>A	BC029590	CCDS34676.1	7q21.11	2013-01-11			ENSG00000153993	ENSG00000153993		"Semaphorins", "Immunoglobulin superfamily / V-set domain containing"	10726	protein-coding gene	gene with protein product		609907					Standard	NM_152754		Approved	coll-2, Sema-Z2	uc003uic.3	O95025	OTTHUMG00000154569	ENST00000284136.6:c.1623C>T	7.37:g.84644455G>A						SEMA3D_ENST00000484038.1_5'UTR	p.C541C	NM_152754.2	NP_689967.2	O95025	SEM3D_HUMAN			14	1666	-			541			PSI.		A6NK46|Q6UW77|Q8NCQ1	Silent	SNP	ENST00000284136.6	37	c.1623C>T	CCDS34676.1																																																																																				0.478	SEMA3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336084.2	NM_152754		26	38	0	0	0	1	0	26	38					A	84644455	G	A	84644455	2	1	435	1	0	0	0	0	0	0	0	1	14027	1079	38	1		1	SEMA3D	7	84644455	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	15587	84644455	74494208	3640	24565											
SEMA3D	223117	broad.mit.edu	37	chr7	84694864	84694864	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gctgttccagagtagaggtaCtcatctgagagggagaaaaa	14	8	13	6	0	2	4	1	1	1	4	3	6	3	4	1	2	1	4	1	2	4	3	rs370398304		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:84694864C>T	ENST00000284136.6	-	6	637	c.594G>A	c.(592-594)gaG>gaA	p.E198E	SEMA3D_ENST00000444867.1_Silent_p.E198E	NM_152754.2	NP_689967.2	O95025	SEM3D_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3D	198	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|membrane (GO:0016020)	receptor activity (GO:0004872)			NS(1)|breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(19)|lung(29)|ovary(3)|pancreas(1)|prostate(4)|skin(2)	73						AGTAGAGGTACTCATCTGAGA	0.413																																					Ovarian(63;442 1191 17318 29975 31528)	ENST00000284136.6																			0				NS(1)|breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(19)|lung(29)|ovary(3)|pancreas(1)|prostate(4)|skin(2)	73						c.(592-594)gaG>gaA		sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3D		C		0,4406		0,0,2203	101	91	94		594	3.1	1	7		94	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	SEMA3D	NM_152754.2		0,2,6501	TT,TC,CC		0.0233,0.0,0.0154		198/778	84694864	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	223117				cell differentiation|nervous system development	extracellular region|membrane	receptor activity	g.chr7:84694864C>T	BC029590	CCDS34676.1	7q21.11	2013-01-11			ENSG00000153993	ENSG00000153993		"Semaphorins", "Immunoglobulin superfamily / V-set domain containing"	10726	protein-coding gene	gene with protein product		609907					Standard	NM_152754		Approved	coll-2, Sema-Z2	uc003uic.3	O95025	OTTHUMG00000154569	ENST00000284136.6:c.594G>A	7.37:g.84694864C>T						SEMA3D_ENST00000444867.1_Silent_p.E198E	p.E198E	NM_152754.2	NP_689967.2	O95025	SEM3D_HUMAN			6	637	-			198			Sema.		A6NK46|Q6UW77|Q8NCQ1	Silent	SNP	ENST00000284136.6	37	c.594G>A	CCDS34676.1																																																																																				0.413	SEMA3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336084.2	NM_152754		14	30	0	0	0	1	0	14	30					T	84694864	C	T	84694864	2	4	435	1	0	0	0	0	0	0	0	1	14027	564	20	3		3	SEMA3D	7	84694864	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	50409	84694864	74443799	3641	24566											
SEMA3D	223117	broad.mit.edu	37	chr7	84751069	84751069	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atatttacctttgtaggttaGcttgagtcttggaatatttt	9	20	8	4	0	1	1	0	1	1	0	1	2	1	2	1	2	2	3	1	2	6	11			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:84751069G>A	ENST00000284136.6	-	1	182	c.139C>T	c.(139-141)Cta>Tta	p.L47L	SEMA3D_ENST00000444867.1_Silent_p.L47L	NM_152754.2	NP_689967.2	O95025	SEM3D_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3D	47	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|membrane (GO:0016020)	receptor activity (GO:0004872)			NS(1)|breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(19)|lung(29)|ovary(3)|pancreas(1)|prostate(4)|skin(2)	73						TTGTAGGTTAGCTTGAGTCTT	0.299																																					Ovarian(63;442 1191 17318 29975 31528)	ENST00000284136.6																			0				NS(1)|breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(19)|lung(29)|ovary(3)|pancreas(1)|prostate(4)|skin(2)	73						c.(139-141)Cta>Tta		sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3D							66	67	67					7																	84751069		2203	4300	6503	SO:0001819	synonymous_variant	223117				cell differentiation|nervous system development	extracellular region|membrane	receptor activity	g.chr7:84751069G>A	BC029590	CCDS34676.1	7q21.11	2013-01-11			ENSG00000153993	ENSG00000153993		"Semaphorins", "Immunoglobulin superfamily / V-set domain containing"	10726	protein-coding gene	gene with protein product		609907					Standard	NM_152754		Approved	coll-2, Sema-Z2	uc003uic.3	O95025	OTTHUMG00000154569	ENST00000284136.6:c.139C>T	7.37:g.84751069G>A						SEMA3D_ENST00000444867.1_Silent_p.L47L	p.L47L	NM_152754.2	NP_689967.2	O95025	SEM3D_HUMAN			1	182	-			47			Sema.		A6NK46|Q6UW77|Q8NCQ1	Silent	SNP	ENST00000284136.6	37	c.139C>T	CCDS34676.1																																																																																				0.299	SEMA3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336084.2	NM_152754		13	23	0	0	0	1	0	13	23					A	84751069	G	A	84751069	2	1	435	1	0	0	0	0	0	0	0	1	14027	962	34	3		3	SEMA3D	7	84751069	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	56205	84751069	74387594	3642	24567											
GRM3	2913	broad.mit.edu	37	chr7	86415812	86415812	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggccttcgagcaggaagcccGcctgcgcaacatctgcatcg	8	6	12	15	4	1	0	0	0	1	0	3	2	1	1	3	2	5	3	3	2	2	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:86415812G>A	ENST00000361669.2	+	3	1803	c.704G>A	c.(703-705)cGc>cAc	p.R235H	GRM3_ENST00000546348.1_Intron|AC005009.2_ENST00000452471.1_RNA|GRM3_ENST00000439827.1_Missense_Mutation_p.R235H|AC005009.2_ENST00000418031.1_RNA|GRM3_ENST00000394720.2_Missense_Mutation_p.R233H|GRM3_ENST00000536043.1_Missense_Mutation_p.R107H	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3	235					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|negative regulation of adenylate cyclase activity (GO:0007194)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)	astrocyte projection (GO:0097449)|axon (GO:0030424)|dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	calcium channel regulator activity (GO:0005246)|G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group II metabotropic glutamate receptor activity (GO:0001641)			NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)					CAGGAAGCCCGCCTGCGCAAC	0.597																																					GBM(52;969 1098 3139 52280)	ENST00000361669.2																			0				NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109						c.(703-705)cGc>cAc		glutamate receptor, metabotropic 3	Acamprosate(DB00659)|Nicotine(DB00184)						55	52	53					7																	86415812		2203	4300	6503	SO:0001583	missense	0				synaptic transmission	integral to plasma membrane		g.chr7:86415812G>A		CCDS5600.1	7q21.1-q21.2	2012-08-29			ENSG00000198822	ENSG00000198822		"GPCR / Class C : Glutamate receptors, metabotropic", "Glutamate receptors"	4595	protein-coding gene	gene with protein product		601115				8824806	Standard	NM_000840		Approved	GPRC1C, mGlu3, MGLUR3	uc003uid.3	Q14832	OTTHUMG00000022884	ENST00000361669.2:c.704G>A	7.37:g.86415812G>A	ENSP00000355316:p.Arg235His					GRM3_ENST00000394720.2_Missense_Mutation_p.R233H|AC005009.2_ENST00000452471.1_RNA|GRM3_ENST00000546348.1_Intron|AC005009.2_ENST00000418031.1_RNA|GRM3_ENST00000536043.1_Missense_Mutation_p.R107H|GRM3_ENST00000439827.1_Missense_Mutation_p.R235H	p.R235H	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN			3	1803	+	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)		235					Q2PNZ6|Q75MV4|Q75N17|Q86YG6|Q8TBH9	Missense_Mutation	SNP	ENST00000361669.2	37	c.704G>A	CCDS5600.1	.	.	.	.	.	.	.	.	.	.	G	25.3	4.619381	0.87460	.	.	ENSG00000198822	ENST00000361669;ENST00000454217;ENST00000536043;ENST00000439827;ENST00000394720	D;D;D;D;D	0.84146	-1.81;-1.81;-1.81;-1.81;-1.81	5.72	4.83	0.62350	Extracellular ligand-binding receptor (1);	0.051376	0.85682	D	0.000000	D	0.93223	0.7841	M	0.88775	2.98	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;P;D	0.75020	0.975;0.907;0.985	D	0.94386	0.7609	10	0.72032	D	0.01	.	15.8198	0.78631	0.0:0.1361:0.8639:0.0	.	107;235;235	F5GYZ2;G5E9K2;Q14832	.;.;GRM3_HUMAN	H	235;107;107;235;233	ENSP00000355316:R235H;ENSP00000405427:R107H;ENSP00000441407:R107H;ENSP00000398767:R235H;ENSP00000378209:R233H	ENSP00000355316:R235H	R	+	2	0	GRM3	86253748	1.000000	0.71417	0.370000	0.25965	0.990000	0.78478	9.756000	0.98918	1.400000	0.46741	0.655000	0.94253	CGC		0.597	GRM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253362.2			9	14	0	0	0	1	0	9	14					A	86415812	G	A	86415812	3	1	435	1	0	0	0	0	1	0	0	0	6798	1087	38	1	710	1	GRM3	7	86415812	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	1664743	86415812	72722851	3643	24568											
KIAA1324L	222223	broad.mit.edu	37	chr7	86541553	86541553	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aagcagtcactatagcaaacCgaatggtcctttgattaaag	15	10	8	8	1	1	1	1	1	0	0	2	2	2	1	2	1	3	2	2	1	7	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:86541553C>T	ENST00000450689.2	-	15	2189	c.2004G>A	c.(2002-2004)tcG>tcA	p.S668S	KIAA1324L_ENST00000416314.1_Silent_p.S501S|KIAA1324L_ENST00000490995.1_5'Flank|KIAA1324L_ENST00000297222.6_Silent_p.S428S|KIAA1324L_ENST00000444627.1_Intron	NM_001142749.2	NP_001136221.1	A8MWY0	K132L_HUMAN	KIAA1324-like	668						integral component of membrane (GO:0016021)				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(14)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44	Esophageal squamous(14;0.0058)					TATAGCAAACCGAATGGTCCT	0.338																																						ENST00000450689.2																			0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(14)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44						c.(2002-2004)tcG>tcA		KIAA1324-like							86	90	89					7																	86541553		2203	4300	6503	SO:0001819	synonymous_variant	222223					integral to membrane		g.chr7:86541553C>T	AK055902	CCDS34677.1, CCDS47632.1, CCDS34677.2	7q21.12	2008-09-18			ENSG00000164659	ENSG00000164659			21945	protein-coding gene	gene with protein product	"EIG121-like"	614048					Standard	NM_001142749		Approved	FLJ31340, EIG121L	uc011kha.2	A8MWY0	OTTHUMG00000153995	ENST00000450689.2:c.2004G>A	7.37:g.86541553C>T						KIAA1324L_ENST00000416314.1_Silent_p.S501S|KIAA1324L_ENST00000297222.6_Silent_p.S428S|KIAA1324L_ENST00000444627.1_Intron	p.S668S	NM_001142749.2	NP_001136221.1	A8MWY0	K132L_HUMAN			15	2189	-	Esophageal squamous(14;0.0058)		668					A4D1C9|B4DJV3|Q17RI6|Q96DP2	Silent	SNP	ENST00000450689.2	37	c.2004G>A	CCDS47632.1	.	.	.	.	.	.	.	.	.	.	C	5.628	0.300502	0.10678	.	.	ENSG00000164659	ENST00000423294	.	.	.	6.02	-8.99	0.00751	.	.	.	.	.	T	0.34803	0.0910	.	.	.	0.39134	D	0.961905	.	.	.	.	.	.	T	0.41052	-0.9530	4	.	.	.	.	2.919	0.05762	0.2258:0.3731:0.2547:0.1464	.	.	.	.	S	629	.	.	G	-	1	0	KIAA1324L	86379489	0.004000	0.15560	0.245000	0.24217	0.833000	0.47200	-0.292000	0.08332	-1.572000	0.01661	-0.781000	0.03364	GGT		0.338	KIAA1324L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333372.3	NM_152748		44	89	0	0	0	1	0	44	89					T	86541553	C	T	86541553	2	4	435	1	0	0	0	0	0	0	0	1	8224	639	23	2		2	KIAA1324L	7	86541553	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	125741	86541553	72597110	3644	24569											
CROT	54677	broad.mit.edu	37	chr7	86991077	86991077	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttcataaagttggaaatacTcctctagatatgaatcaatt	15	14	6	6	0	3	2	2	1	1	1	4	3	4	3	1	1	1	2	1	1	8	7			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:86991077T>A	ENST00000331536.3	+	6	641	c.456T>A	c.(454-456)acT>acA	p.T152T	CROT_ENST00000419147.2_Silent_p.T180T|CROT_ENST00000442291.1_Silent_p.T152T	NM_021151.3	NP_066974.2	Q9UKG9	OCTC_HUMAN	carnitine O-octanoyltransferase	152					carnitine metabolic process (GO:0009437)|cellular lipid metabolic process (GO:0044255)|coenzyme A metabolic process (GO:0015936)|fatty acid beta-oxidation (GO:0006635)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|fatty acid metabolic process (GO:0006631)|fatty acid transport (GO:0015908)|generation of precursor metabolites and energy (GO:0006091)|medium-chain fatty acid metabolic process (GO:0051791)|small molecule metabolic process (GO:0044281)	intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	carnitine O-octanoyltransferase activity (GO:0008458)|receptor binding (GO:0005102)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)				L-Carnitine(DB00583)	TTGGAAATACTCCTCTAGATA	0.313																																						ENST00000331536.3																			0				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						c.(454-456)acT>acA		carnitine O-octanoyltransferase	L-Carnitine(DB00583)						79	91	87					7																	86991077		2203	4300	6503	SO:0001819	synonymous_variant	54677				fatty acid beta-oxidation using acyl-CoA oxidase|generation of precursor metabolites and energy|transport	peroxisomal matrix	carnitine O-octanoyltransferase activity	g.chr7:86991077T>A		CCDS5604.1, CCDS47634.1, CCDS59062.1	7q21.1	2010-02-26			ENSG00000005469	ENSG00000005469			2366	protein-coding gene	gene with protein product		606090				10486279	Standard	NM_021151		Approved	COT	uc003uit.3	Q9UKG9	OTTHUMG00000023653	ENST00000331536.3:c.456T>A	7.37:g.86991077T>A						CROT_ENST00000419147.2_Silent_p.T180T|CROT_ENST00000442291.1_Silent_p.T152T	p.T152T	NM_021151.3	NP_066974.2	Q9UKG9	OCTC_HUMAN			6	641	+	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)		152					A4D1D6|E7EQF2|Q86V17|Q8IUW9|Q9Y6I2	Silent	SNP	ENST00000331536.3	37	c.456T>A	CCDS5604.1																																																																																				0.313	CROT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253485.1	NM_021151		45	61	0	0	0	1	0	45	61					A	86991077	T	A	86991077	2	1	435	1	0	0	0	0	0	0	0	1	3894	1538	54	5		5	CROT	7	86991077	Silent	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	449524	86991077	72147586	3645	24570											
ABCB4	5244	broad.mit.edu	37	chr7	87080982	87080982	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gtcctagaatagggctgatgGccattatcacaagggtgagc	11	9	13	8	0	1	3	1	2	0	1	2	3	2	3	2	3	1	1	2	3	5	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:87080982G>A	ENST00000265723.4	-	7	776	c.665C>T	c.(664-666)gCc>gTc	p.A222V	ABCB4_ENST00000545634.1_Missense_Mutation_p.A222V|ABCB4_ENST00000453593.1_Missense_Mutation_p.A222V|ABCB4_ENST00000358400.3_Missense_Mutation_p.A222V|ABCB4_ENST00000359206.3_Missense_Mutation_p.A222V	NM_000443.3|NM_018849.2	NP_000434.1|NP_061337.1	P21439	MDR3_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 4	222	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				cellular lipid metabolic process (GO:0044255)|lipid metabolic process (GO:0006629)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intercellular canaliculus (GO:0046581)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|xenobiotic-transporting ATPase activity (GO:0008559)			breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)				Colchicine(DB01394)|Etravirine(DB06414)|Silodosin(DB06207)	AGGGCTGATGGCCATTATCAC	0.458																																						ENST00000265723.4																			0				breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77						c.(664-666)gCc>gTc		ATP-binding cassette, sub-family B (MDR/TAP), member 4							148	127	134					7																	87080982		2203	4300	6503	SO:0001583	missense	5244				cellular lipid metabolic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|xenobiotic-transporting ATPase activity	g.chr7:87080982G>A	M23234	CCDS5605.1, CCDS5606.1, CCDS5607.1	7q21	2012-03-14			ENSG00000005471	ENSG00000005471		"ATP binding cassette transporters / subfamily B"	45	protein-coding gene	gene with protein product		171060		PGY3, MDR3		2892668, 11313316	Standard	NM_018850		Approved	MDR2, PFIC-3, GBD1	uc003uiv.1	P21439	OTTHUMG00000023396	ENST00000265723.4:c.665C>T	7.37:g.87080982G>A	ENSP00000265723:p.Ala222Val					ABCB4_ENST00000359206.3_Missense_Mutation_p.A222V|ABCB4_ENST00000358400.3_Missense_Mutation_p.A222V|ABCB4_ENST00000453593.1_Missense_Mutation_p.A222V|ABCB4_ENST00000545634.1_Missense_Mutation_p.A222V	p.A222V	NM_000443.3|NM_018849.2	NP_000434.1|NP_061337.1	P21439	MDR3_HUMAN			7	776	-	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)		222			ABC transmembrane type-1 1.		A0A2V7|A4D1D3|A4D1D4|A4D1D5|D6W5P3|D6W5P4|Q14813	Missense_Mutation	SNP	ENST00000265723.4	37	c.665C>T	CCDS5606.1	.	.	.	.	.	.	.	.	.	.	G	29.8	5.038856	0.93630	.	.	ENSG00000005471	ENST00000359206;ENST00000358400;ENST00000265723;ENST00000453593;ENST00000545634	D;D;D;D;D	0.90504	-2.68;-2.68;-2.68;-2.68;-2.68	5.95	5.07	0.68467	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.048720	0.85682	N	0.000000	D	0.94473	0.8221	M	0.77486	2.375	0.80722	D	1	P;D;D	0.59357	0.661;0.981;0.985	P;P;D	0.63113	0.45;0.856;0.911	D	0.94469	0.7683	10	0.51188	T	0.08	-6.5554	15.0152	0.71578	0.0676:0.0:0.9324:0.0	.	222;222;222	A4D1D5;P21439-2;P21439	.;.;MDR3_HUMAN	V	222	ENSP00000352135:A222V;ENSP00000351172:A222V;ENSP00000265723:A222V;ENSP00000392983:A222V;ENSP00000437465:A222V	ENSP00000265723:A222V	A	-	2	0	ABCB4	86918918	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.794000	0.99096	1.536000	0.49237	0.655000	0.94253	GCC		0.458	ABCB4-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000336083.1	NM_000443		10	43	0	0	0	1	0	10	43					A	87080982	G	A	87080982	3	1	435	1	0	0	0	0	1	0	0	0	43	1203	42	3	3283	3	ABCB4	7	87080982	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	89905	87080982	72057681	3646	24571											
ABCB1	5243	broad.mit.edu	37	chr7	87133634	87133634	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgtgccagcagctgctgatgCgtgccatgctccttgactct	5	12	11	13	1	1	2	0	2	1	0	2	2	2	2	3	0	7	4	3	0	0	1	rs149482536	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:87133634C>A	ENST00000265724.3	-	29	4185	c.3768G>T	c.(3766-3768)acG>acT	p.T1256T	ABCB1_ENST00000543898.1_Silent_p.T1192T|ABCB1_ENST00000488737.2_5'UTR	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 1	1256	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				drug transmembrane transport (GO:0006855)|G2/M transition of mitotic cell cycle (GO:0000086)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|stem cell proliferation (GO:0072089)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)|xenobiotic-transporting ATPase activity (GO:0008559)			NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111	Esophageal squamous(14;0.00164)				Acebutolol(DB01193)|Acetaminophen(DB00316)|Acetylsalicylic acid(DB00945)|Adenosine triphosphate(DB00171)|ado-trastuzumab emtansine(DB05773)|Afatinib(DB08916)|Albendazole(DB00518)|Alfentanil(DB00802)|Alitretinoin(DB00523)|Amantadine(DB00915)|Aminohippurate(DB00345)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amprenavir(DB00701)|Amsacrine(DB00276)|Apixaban(DB06605)|Arsenic trioxide(DB01169)|Astemizole(DB00637)|Atazanavir(DB01072)|Atenolol(DB00335)|Atorvastatin(DB01076)|Axitinib(DB06626)|Azelastine(DB00972)|Azithromycin(DB00207)|Benzocaine(DB01086)|Bepridil(DB01244)|Betamethasone(DB00443)|Biperiden(DB00810)|Boceprevir(DB08873)|Bosutinib(DB06616)|Brentuximab vedotin(DB08870)|Bromocriptine(DB01200)|Buprenorphine(DB00921)|Buspirone(DB00490)|Cabazitaxel(DB06772)|Caffeine(DB00201)|Canagliflozin(DB08907)|Candesartan(DB00796)|Captopril(DB01197)|Carbamazepine(DB00564)|Carfilzomib(DB08889)|Carvedilol(DB01136)|Caspofungin(DB00520)|Chloroquine(DB00608)|Chlorpromazine(DB00477)|Chlorpropamide(DB00672)|Chlorprothixene(DB01239)|Cilazapril(DB01340)|Cimetidine(DB00501)|Ciprofloxacin(DB00537)|Cisplatin(DB00515)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Clofazimine(DB00845)|Clomifene(DB00882)|Clomipramine(DB01242)|Clonidine(DB00575)|Clopidogrel(DB00758)|Clotrimazole(DB00257)|Clozapine(DB00363)|Colchicine(DB01394)|Conjugated Estrogens(DB00286)|Crizotinib(DB08865)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dabigatran etexilate(DB06695)|Dabrafenib(DB08912)|Dactinomycin(DB00970)|Dapagliflozin(DB06292)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Debrisoquin(DB04840)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexamethasone(DB01234)|Dextromethorphan(DB00514)|Diazepam(DB00829)|Diclofenac(DB00586)|Diethylstilbestrol(DB00255)|Digitoxin(DB01396)|Digoxin(DB00390)|Dihydroergotamine(DB00320)|Diltiazem(DB00343)|Dipyridamole(DB00975)|Docetaxel(DB01248)|Domperidone(DB01184)|Doxazosin(DB00590)|Doxepin(DB01142)|Doxorubicin(DB00997)|Dronabinol(DB00470)|Dronedarone(DB04855)|Eletriptan(DB00216)|Enalapril(DB00584)|Enzalutamide(DB08899)|Epinastine(DB00751)|Ergonovine(DB01253)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estrone(DB00655)|Ethinyl Estradiol(DB00977)|Etoposide(DB00773)|Etravirine(DB06414)|Ezetimibe(DB00973)|Felodipine(DB01023)|Fentanyl(DB00813)|Fesoterodine(DB06702)|Fexofenadine(DB00950)|Fidaxomicin(DB08874)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flupentixol(DB00875)|Fluphenazine(DB00623)|Flurazepam(DB00690)|Fluticasone furoate(DB08906)|Fluvoxamine(DB00176)|Gefitinib(DB00317)|Gemcitabine(DB00441)|Glyburide(DB01016)|Gramicidin D(DB00027)|Haloperidol(DB00502)|Hydrocortisone(DB00741)|Ibuprofen(DB01050)|Imatinib(DB00619)|Imipramine(DB00458)|Indacaterol(DB05039)|Indinavir(DB00224)|Indomethacin(DB00328)|Irinotecan(DB00762)|Itraconazole(DB01167)|Ivacaftor(DB08820)|Ivermectin(DB00602)|Ketamine(DB01221)|Ketazolam(DB01587)|Ketoconazole(DB01026)|Lamivudine(DB00709)|Lamotrigine(DB00555)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Lenalidomide(DB00480)|Levetiracetam(DB01202)|Levofloxacin(DB01137)|Levomilnacipran(DB08918)|Levothyroxine(DB00451)|Lidocaine(DB00281)|Linagliptin(DB08882)|Liothyronine(DB00279)|Liotrix(DB01583)|Lisinopril(DB00722)|Lomitapide(DB08827)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Losartan(DB00678)|Lovastatin(DB00227)|Mannitol(DB00742)|Maprotiline(DB00934)|Mebendazole(DB00643)|Mefloquine(DB00358)|Megestrol acetate(DB00351)|Meprobamate(DB00371)|Methadone(DB00333)|Methotrexate(DB00563)|Methylprednisolone(DB00959)|Metoprolol(DB00264)|Miconazole(DB01110)|Midazolam(DB00683)|Mifepristone(DB00834)|Mirabegron(DB08893)|Mitomycin(DB00305)|Mitoxantrone(DB01204)|Morphine(DB00295)|Mycophenolate mofetil(DB00688)|Nadolol(DB01203)|Naloxone(DB01183)|Naltrexone(DB00704)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Neostigmine(DB01400)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nisoldipine(DB00401)|Nitrazepam(DB01595)|Nitrendipine(DB01054)|Nizatidine(DB00585)|Norethindrone(DB00717)|Olanzapine(DB00334)|Omeprazole(DB00338)|Paclitaxel(DB01229)|Pantoprazole(DB00213)|Paroxetine(DB00715)|Pazopanib(DB06589)|Perindopril(DB00790)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Pimozide(DB01100)|Pitavastatin(DB08860)|Pomalidomide(DB08910)|Ponatinib(DB08901)|Posaconazole(DB01263)|Pravastatin(DB00175)|Prazosin(DB00457)|Prednisolone(DB00860)|Prednisone(DB00635)|Probenecid(DB01032)|Progesterone(DB00396)|Promethazine(DB01069)|Propafenone(DB01182)|Propranolol(DB00571)|Protriptyline(DB00344)|Quetiapine(DB01224)|Quinacrine(DB01103)|Quinidine(DB00908)|Quinine(DB00468)|Ranitidine(DB00863)|Reboxetine(DB00234)|Regorafenib(DB08896)|Reserpine(DB00206)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Risperidone(DB00734)|Ritonavir(DB00503)|Rivaroxaban(DB06228)|Roxithromycin(DB00778)|Salicylic acid(DB00936)|Saquinavir(DB01232)|Scopolamine(DB00747)|Selegiline(DB01037)|Sertraline(DB01104)|Silodosin(DB06207)|SIMEPREVIR(DB06290)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sitagliptin(DB01261)|SOFOSBUVIR(DB08934)|Sorafenib(DB00398)|Sparfloxacin(DB01208)|Spironolactone(DB00421)|Streptozocin(DB00428)|Sulfinpyrazone(DB01138)|Sumatriptan(DB00669)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tamoxifen(DB00675)|Telaprevir(DB05521)|Telmisartan(DB00966)|Temsirolimus(DB06287)|Terazosin(DB01162)|Testosterone(DB00624)|Ticagrelor(DB08816)|Timolol(DB00373)|Tolvaptan(DB06212)|Topotecan(DB01030)|Toremifene(DB00539)|Trazodone(DB00656)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Trimethoprim(DB00440)|Trimipramine(DB00726)|Troleandomycin(DB01361)|Vecuronium(DB01339)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)|Vinorelbine(DB00361)|Vismodegib(DB08828)|Voacamine(DB04877)|Zidovudine(DB00495)	GCTGCTGATGCGTGCCATGCT	0.493																																						ENST00000265724.3																			0				NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111						c.(3766-3768)acG>acT		ATP-binding cassette, sub-family B (MDR/TAP), member 1	Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570)						160	146	151					7																	87133634		2203	4300	6503	SO:0001819	synonymous_variant	5243				G2/M transition of mitotic cell cycle|stem cell proliferation	apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction	ATP binding|protein binding|xenobiotic-transporting ATPase activity	g.chr7:87133634C>A	M14758	CCDS5608.1	7q21.12	2012-03-14	2004-05-12		ENSG00000085563	ENSG00000085563		"CD molecules", "ATP binding cassette transporters / subfamily B"	40	protein-coding gene	gene with protein product	"multidrug resistance protein 1"	171050	"colchicin sensitivity"	PGY1, MDR1, CLCS		3027054	Standard	NM_000927		Approved	P-gp, CD243, GP170, ABC20	uc003uiz.2	P08183	OTTHUMG00000023393	ENST00000265724.3:c.3768G>T	7.37:g.87133634C>A						ABCB1_ENST00000488737.2_5'UTR|ABCB1_ENST00000543898.1_Silent_p.T1192T	p.T1256T	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN			29	4185	-	Esophageal squamous(14;0.00164)		1256			ABC transporter 2.		A8K294|B5AK60|Q12755|Q14812	Silent	SNP	ENST00000265724.3	37	c.3768G>T	CCDS5608.1																																																																																				0.493	ABCB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335444.2	NM_000927		28	44	1	0	9.93527e-08	1	1.04484e-07	28	44					A	87133634	C	A	87133634	2	1	435	1	0	0	0	0	0	0	0	1	40	755	27	5		5	ABCB1	7	87133634	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	52652	87133634	72005029	3647	24572											
ABCB1	5243	broad.mit.edu	37	chr7	87138668	87138668	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctcttcctgtgacaccacccGgctgttgtctccataggcaa	7	11	8	15	1	2	1	0	1	2	0	4	1	3	1	4	2	0	3	4	2	2	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:87138668G>A	ENST00000265724.3	-	27	3829	c.3412C>T	c.(3412-3414)Cgg>Tgg	p.R1138W	ABCB1_ENST00000543898.1_Missense_Mutation_p.R1074W|ABCB1_ENST00000488737.2_5'UTR	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 1	1138	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				drug transmembrane transport (GO:0006855)|G2/M transition of mitotic cell cycle (GO:0000086)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|stem cell proliferation (GO:0072089)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)|xenobiotic-transporting ATPase activity (GO:0008559)			NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111	Esophageal squamous(14;0.00164)				Acebutolol(DB01193)|Acetaminophen(DB00316)|Acetylsalicylic acid(DB00945)|Adenosine triphosphate(DB00171)|ado-trastuzumab emtansine(DB05773)|Afatinib(DB08916)|Albendazole(DB00518)|Alfentanil(DB00802)|Alitretinoin(DB00523)|Amantadine(DB00915)|Aminohippurate(DB00345)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amprenavir(DB00701)|Amsacrine(DB00276)|Apixaban(DB06605)|Arsenic trioxide(DB01169)|Astemizole(DB00637)|Atazanavir(DB01072)|Atenolol(DB00335)|Atorvastatin(DB01076)|Axitinib(DB06626)|Azelastine(DB00972)|Azithromycin(DB00207)|Benzocaine(DB01086)|Bepridil(DB01244)|Betamethasone(DB00443)|Biperiden(DB00810)|Boceprevir(DB08873)|Bosutinib(DB06616)|Brentuximab vedotin(DB08870)|Bromocriptine(DB01200)|Buprenorphine(DB00921)|Buspirone(DB00490)|Cabazitaxel(DB06772)|Caffeine(DB00201)|Canagliflozin(DB08907)|Candesartan(DB00796)|Captopril(DB01197)|Carbamazepine(DB00564)|Carfilzomib(DB08889)|Carvedilol(DB01136)|Caspofungin(DB00520)|Chloroquine(DB00608)|Chlorpromazine(DB00477)|Chlorpropamide(DB00672)|Chlorprothixene(DB01239)|Cilazapril(DB01340)|Cimetidine(DB00501)|Ciprofloxacin(DB00537)|Cisplatin(DB00515)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Clofazimine(DB00845)|Clomifene(DB00882)|Clomipramine(DB01242)|Clonidine(DB00575)|Clopidogrel(DB00758)|Clotrimazole(DB00257)|Clozapine(DB00363)|Colchicine(DB01394)|Conjugated Estrogens(DB00286)|Crizotinib(DB08865)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dabigatran etexilate(DB06695)|Dabrafenib(DB08912)|Dactinomycin(DB00970)|Dapagliflozin(DB06292)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Debrisoquin(DB04840)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexamethasone(DB01234)|Dextromethorphan(DB00514)|Diazepam(DB00829)|Diclofenac(DB00586)|Diethylstilbestrol(DB00255)|Digitoxin(DB01396)|Digoxin(DB00390)|Dihydroergotamine(DB00320)|Diltiazem(DB00343)|Dipyridamole(DB00975)|Docetaxel(DB01248)|Domperidone(DB01184)|Doxazosin(DB00590)|Doxepin(DB01142)|Doxorubicin(DB00997)|Dronabinol(DB00470)|Dronedarone(DB04855)|Eletriptan(DB00216)|Enalapril(DB00584)|Enzalutamide(DB08899)|Epinastine(DB00751)|Ergonovine(DB01253)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estrone(DB00655)|Ethinyl Estradiol(DB00977)|Etoposide(DB00773)|Etravirine(DB06414)|Ezetimibe(DB00973)|Felodipine(DB01023)|Fentanyl(DB00813)|Fesoterodine(DB06702)|Fexofenadine(DB00950)|Fidaxomicin(DB08874)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flupentixol(DB00875)|Fluphenazine(DB00623)|Flurazepam(DB00690)|Fluticasone furoate(DB08906)|Fluvoxamine(DB00176)|Gefitinib(DB00317)|Gemcitabine(DB00441)|Glyburide(DB01016)|Gramicidin D(DB00027)|Haloperidol(DB00502)|Hydrocortisone(DB00741)|Ibuprofen(DB01050)|Imatinib(DB00619)|Imipramine(DB00458)|Indacaterol(DB05039)|Indinavir(DB00224)|Indomethacin(DB00328)|Irinotecan(DB00762)|Itraconazole(DB01167)|Ivacaftor(DB08820)|Ivermectin(DB00602)|Ketamine(DB01221)|Ketazolam(DB01587)|Ketoconazole(DB01026)|Lamivudine(DB00709)|Lamotrigine(DB00555)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Lenalidomide(DB00480)|Levetiracetam(DB01202)|Levofloxacin(DB01137)|Levomilnacipran(DB08918)|Levothyroxine(DB00451)|Lidocaine(DB00281)|Linagliptin(DB08882)|Liothyronine(DB00279)|Liotrix(DB01583)|Lisinopril(DB00722)|Lomitapide(DB08827)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Losartan(DB00678)|Lovastatin(DB00227)|Mannitol(DB00742)|Maprotiline(DB00934)|Mebendazole(DB00643)|Mefloquine(DB00358)|Megestrol acetate(DB00351)|Meprobamate(DB00371)|Methadone(DB00333)|Methotrexate(DB00563)|Methylprednisolone(DB00959)|Metoprolol(DB00264)|Miconazole(DB01110)|Midazolam(DB00683)|Mifepristone(DB00834)|Mirabegron(DB08893)|Mitomycin(DB00305)|Mitoxantrone(DB01204)|Morphine(DB00295)|Mycophenolate mofetil(DB00688)|Nadolol(DB01203)|Naloxone(DB01183)|Naltrexone(DB00704)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Neostigmine(DB01400)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nisoldipine(DB00401)|Nitrazepam(DB01595)|Nitrendipine(DB01054)|Nizatidine(DB00585)|Norethindrone(DB00717)|Olanzapine(DB00334)|Omeprazole(DB00338)|Paclitaxel(DB01229)|Pantoprazole(DB00213)|Paroxetine(DB00715)|Pazopanib(DB06589)|Perindopril(DB00790)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Pimozide(DB01100)|Pitavastatin(DB08860)|Pomalidomide(DB08910)|Ponatinib(DB08901)|Posaconazole(DB01263)|Pravastatin(DB00175)|Prazosin(DB00457)|Prednisolone(DB00860)|Prednisone(DB00635)|Probenecid(DB01032)|Progesterone(DB00396)|Promethazine(DB01069)|Propafenone(DB01182)|Propranolol(DB00571)|Protriptyline(DB00344)|Quetiapine(DB01224)|Quinacrine(DB01103)|Quinidine(DB00908)|Quinine(DB00468)|Ranitidine(DB00863)|Reboxetine(DB00234)|Regorafenib(DB08896)|Reserpine(DB00206)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Risperidone(DB00734)|Ritonavir(DB00503)|Rivaroxaban(DB06228)|Roxithromycin(DB00778)|Salicylic acid(DB00936)|Saquinavir(DB01232)|Scopolamine(DB00747)|Selegiline(DB01037)|Sertraline(DB01104)|Silodosin(DB06207)|SIMEPREVIR(DB06290)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sitagliptin(DB01261)|SOFOSBUVIR(DB08934)|Sorafenib(DB00398)|Sparfloxacin(DB01208)|Spironolactone(DB00421)|Streptozocin(DB00428)|Sulfinpyrazone(DB01138)|Sumatriptan(DB00669)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tamoxifen(DB00675)|Telaprevir(DB05521)|Telmisartan(DB00966)|Temsirolimus(DB06287)|Terazosin(DB01162)|Testosterone(DB00624)|Ticagrelor(DB08816)|Timolol(DB00373)|Tolvaptan(DB06212)|Topotecan(DB01030)|Toremifene(DB00539)|Trazodone(DB00656)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Trimethoprim(DB00440)|Trimipramine(DB00726)|Troleandomycin(DB01361)|Vecuronium(DB01339)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)|Vinorelbine(DB00361)|Vismodegib(DB08828)|Voacamine(DB04877)|Zidovudine(DB00495)	GACACCACCCGGCTGTTGTCT	0.512																																						ENST00000265724.3																			0				NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111						c.(3412-3414)Cgg>Tgg		ATP-binding cassette, sub-family B (MDR/TAP), member 1	Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570)						160	145	150					7																	87138668		2203	4300	6503	SO:0001583	missense	5243				G2/M transition of mitotic cell cycle|stem cell proliferation	apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction	ATP binding|protein binding|xenobiotic-transporting ATPase activity	g.chr7:87138668G>A	M14758	CCDS5608.1	7q21.12	2012-03-14	2004-05-12		ENSG00000085563	ENSG00000085563		"CD molecules", "ATP binding cassette transporters / subfamily B"	40	protein-coding gene	gene with protein product	"multidrug resistance protein 1"	171050	"colchicin sensitivity"	PGY1, MDR1, CLCS		3027054	Standard	NM_000927		Approved	P-gp, CD243, GP170, ABC20	uc003uiz.2	P08183	OTTHUMG00000023393	ENST00000265724.3:c.3412C>T	7.37:g.87138668G>A	ENSP00000265724:p.Arg1138Trp					ABCB1_ENST00000488737.2_5'UTR|ABCB1_ENST00000543898.1_Missense_Mutation_p.R1074W	p.R1138W	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN			27	3829	-	Esophageal squamous(14;0.00164)		1138			ABC transporter 2.		A8K294|B5AK60|Q12755|Q14812	Missense_Mutation	SNP	ENST00000265724.3	37	c.3412C>T	CCDS5608.1	.	.	.	.	.	.	.	.	.	.	G	16.77	3.214255	0.58452	.	.	ENSG00000085563	ENST00000543174;ENST00000265724;ENST00000543898	D;D	0.88975	-2.45;-2.45	6.06	5.13	0.70059	ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.052964	0.64402	D	0.000001	D	0.90324	0.6973	L	0.59967	1.855	0.80722	D	1	D;P	0.54964	0.969;0.835	P;B	0.52758	0.708;0.186	D	0.90760	0.4664	10	0.87932	D	0	-11.022	13.2406	0.59995	0.0:0.0:0.7281:0.2719	.	1074;1138	B5AK60;P08183	.;MDR1_HUMAN	W	919;1138;1074	ENSP00000265724:R1138W;ENSP00000444095:R1074W	ENSP00000265724:R1138W	R	-	1	2	ABCB1	86976604	1.000000	0.71417	1.000000	0.80357	0.851000	0.48451	1.212000	0.32394	2.871000	0.98454	0.655000	0.94253	CGG		0.512	ABCB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335444.2	NM_000927		32	63	0	0	0	1	0	32	63					A	87138668	G	A	87138668	3	1	435	1	0	0	0	0	1	0	0	0	40	1115	39	2	442	2	ABCB1	7	87138668	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	5034	87138668	71999995	3648	24573											
ABCB1	5243	broad.mit.edu	37	chr7	87179861	87179861	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttaatattatctggtttgtGcccactcttcgaatagctgt	8	17	7	9	1	2	0	0	0	2	0	3	1	2	0	1	1	2	2	1	1	5	6			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:87179861G>A	ENST00000265724.3	-	12	1564	c.1147C>T	c.(1147-1149)Cac>Tac	p.H383Y	ABCB1_ENST00000543898.1_Missense_Mutation_p.H319Y	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 1	383					drug transmembrane transport (GO:0006855)|G2/M transition of mitotic cell cycle (GO:0000086)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|stem cell proliferation (GO:0072089)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)|xenobiotic-transporting ATPase activity (GO:0008559)			NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111	Esophageal squamous(14;0.00164)				Acebutolol(DB01193)|Acetaminophen(DB00316)|Acetylsalicylic acid(DB00945)|Adenosine triphosphate(DB00171)|ado-trastuzumab emtansine(DB05773)|Afatinib(DB08916)|Albendazole(DB00518)|Alfentanil(DB00802)|Alitretinoin(DB00523)|Amantadine(DB00915)|Aminohippurate(DB00345)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amprenavir(DB00701)|Amsacrine(DB00276)|Apixaban(DB06605)|Arsenic trioxide(DB01169)|Astemizole(DB00637)|Atazanavir(DB01072)|Atenolol(DB00335)|Atorvastatin(DB01076)|Axitinib(DB06626)|Azelastine(DB00972)|Azithromycin(DB00207)|Benzocaine(DB01086)|Bepridil(DB01244)|Betamethasone(DB00443)|Biperiden(DB00810)|Boceprevir(DB08873)|Bosutinib(DB06616)|Brentuximab vedotin(DB08870)|Bromocriptine(DB01200)|Buprenorphine(DB00921)|Buspirone(DB00490)|Cabazitaxel(DB06772)|Caffeine(DB00201)|Canagliflozin(DB08907)|Candesartan(DB00796)|Captopril(DB01197)|Carbamazepine(DB00564)|Carfilzomib(DB08889)|Carvedilol(DB01136)|Caspofungin(DB00520)|Chloroquine(DB00608)|Chlorpromazine(DB00477)|Chlorpropamide(DB00672)|Chlorprothixene(DB01239)|Cilazapril(DB01340)|Cimetidine(DB00501)|Ciprofloxacin(DB00537)|Cisplatin(DB00515)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Clofazimine(DB00845)|Clomifene(DB00882)|Clomipramine(DB01242)|Clonidine(DB00575)|Clopidogrel(DB00758)|Clotrimazole(DB00257)|Clozapine(DB00363)|Colchicine(DB01394)|Conjugated Estrogens(DB00286)|Crizotinib(DB08865)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dabigatran etexilate(DB06695)|Dabrafenib(DB08912)|Dactinomycin(DB00970)|Dapagliflozin(DB06292)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Debrisoquin(DB04840)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexamethasone(DB01234)|Dextromethorphan(DB00514)|Diazepam(DB00829)|Diclofenac(DB00586)|Diethylstilbestrol(DB00255)|Digitoxin(DB01396)|Digoxin(DB00390)|Dihydroergotamine(DB00320)|Diltiazem(DB00343)|Dipyridamole(DB00975)|Docetaxel(DB01248)|Domperidone(DB01184)|Doxazosin(DB00590)|Doxepin(DB01142)|Doxorubicin(DB00997)|Dronabinol(DB00470)|Dronedarone(DB04855)|Eletriptan(DB00216)|Enalapril(DB00584)|Enzalutamide(DB08899)|Epinastine(DB00751)|Ergonovine(DB01253)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estrone(DB00655)|Ethinyl Estradiol(DB00977)|Etoposide(DB00773)|Etravirine(DB06414)|Ezetimibe(DB00973)|Felodipine(DB01023)|Fentanyl(DB00813)|Fesoterodine(DB06702)|Fexofenadine(DB00950)|Fidaxomicin(DB08874)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flupentixol(DB00875)|Fluphenazine(DB00623)|Flurazepam(DB00690)|Fluticasone furoate(DB08906)|Fluvoxamine(DB00176)|Gefitinib(DB00317)|Gemcitabine(DB00441)|Glyburide(DB01016)|Gramicidin D(DB00027)|Haloperidol(DB00502)|Hydrocortisone(DB00741)|Ibuprofen(DB01050)|Imatinib(DB00619)|Imipramine(DB00458)|Indacaterol(DB05039)|Indinavir(DB00224)|Indomethacin(DB00328)|Irinotecan(DB00762)|Itraconazole(DB01167)|Ivacaftor(DB08820)|Ivermectin(DB00602)|Ketamine(DB01221)|Ketazolam(DB01587)|Ketoconazole(DB01026)|Lamivudine(DB00709)|Lamotrigine(DB00555)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Lenalidomide(DB00480)|Levetiracetam(DB01202)|Levofloxacin(DB01137)|Levomilnacipran(DB08918)|Levothyroxine(DB00451)|Lidocaine(DB00281)|Linagliptin(DB08882)|Liothyronine(DB00279)|Liotrix(DB01583)|Lisinopril(DB00722)|Lomitapide(DB08827)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Losartan(DB00678)|Lovastatin(DB00227)|Mannitol(DB00742)|Maprotiline(DB00934)|Mebendazole(DB00643)|Mefloquine(DB00358)|Megestrol acetate(DB00351)|Meprobamate(DB00371)|Methadone(DB00333)|Methotrexate(DB00563)|Methylprednisolone(DB00959)|Metoprolol(DB00264)|Miconazole(DB01110)|Midazolam(DB00683)|Mifepristone(DB00834)|Mirabegron(DB08893)|Mitomycin(DB00305)|Mitoxantrone(DB01204)|Morphine(DB00295)|Mycophenolate mofetil(DB00688)|Nadolol(DB01203)|Naloxone(DB01183)|Naltrexone(DB00704)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Neostigmine(DB01400)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nisoldipine(DB00401)|Nitrazepam(DB01595)|Nitrendipine(DB01054)|Nizatidine(DB00585)|Norethindrone(DB00717)|Olanzapine(DB00334)|Omeprazole(DB00338)|Paclitaxel(DB01229)|Pantoprazole(DB00213)|Paroxetine(DB00715)|Pazopanib(DB06589)|Perindopril(DB00790)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Pimozide(DB01100)|Pitavastatin(DB08860)|Pomalidomide(DB08910)|Ponatinib(DB08901)|Posaconazole(DB01263)|Pravastatin(DB00175)|Prazosin(DB00457)|Prednisolone(DB00860)|Prednisone(DB00635)|Probenecid(DB01032)|Progesterone(DB00396)|Promethazine(DB01069)|Propafenone(DB01182)|Propranolol(DB00571)|Protriptyline(DB00344)|Quetiapine(DB01224)|Quinacrine(DB01103)|Quinidine(DB00908)|Quinine(DB00468)|Ranitidine(DB00863)|Reboxetine(DB00234)|Regorafenib(DB08896)|Reserpine(DB00206)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Risperidone(DB00734)|Ritonavir(DB00503)|Rivaroxaban(DB06228)|Roxithromycin(DB00778)|Salicylic acid(DB00936)|Saquinavir(DB01232)|Scopolamine(DB00747)|Selegiline(DB01037)|Sertraline(DB01104)|Silodosin(DB06207)|SIMEPREVIR(DB06290)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sitagliptin(DB01261)|SOFOSBUVIR(DB08934)|Sorafenib(DB00398)|Sparfloxacin(DB01208)|Spironolactone(DB00421)|Streptozocin(DB00428)|Sulfinpyrazone(DB01138)|Sumatriptan(DB00669)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tamoxifen(DB00675)|Telaprevir(DB05521)|Telmisartan(DB00966)|Temsirolimus(DB06287)|Terazosin(DB01162)|Testosterone(DB00624)|Ticagrelor(DB08816)|Timolol(DB00373)|Tolvaptan(DB06212)|Topotecan(DB01030)|Toremifene(DB00539)|Trazodone(DB00656)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Trimethoprim(DB00440)|Trimipramine(DB00726)|Troleandomycin(DB01361)|Vecuronium(DB01339)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)|Vinorelbine(DB00361)|Vismodegib(DB08828)|Voacamine(DB04877)|Zidovudine(DB00495)	TCTGGTTTGTGCCCACTCTTC	0.323																																						ENST00000265724.3																			0				NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111						c.(1147-1149)Cac>Tac		ATP-binding cassette, sub-family B (MDR/TAP), member 1	Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570)						100	96	97					7																	87179861		2203	4299	6502	SO:0001583	missense	5243				G2/M transition of mitotic cell cycle|stem cell proliferation	apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction	ATP binding|protein binding|xenobiotic-transporting ATPase activity	g.chr7:87179861G>A	M14758	CCDS5608.1	7q21.12	2012-03-14	2004-05-12		ENSG00000085563	ENSG00000085563		"CD molecules", "ATP binding cassette transporters / subfamily B"	40	protein-coding gene	gene with protein product	"multidrug resistance protein 1"	171050	"colchicin sensitivity"	PGY1, MDR1, CLCS		3027054	Standard	NM_000927		Approved	P-gp, CD243, GP170, ABC20	uc003uiz.2	P08183	OTTHUMG00000023393	ENST00000265724.3:c.1147C>T	7.37:g.87179861G>A	ENSP00000265724:p.His383Tyr					ABCB1_ENST00000543898.1_Missense_Mutation_p.H319Y	p.H383Y	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN			12	1564	-	Esophageal squamous(14;0.00164)		383					A8K294|B5AK60|Q12755|Q14812	Missense_Mutation	SNP	ENST00000265724.3	37	c.1147C>T	CCDS5608.1	.	.	.	.	.	.	.	.	.	.	G	2.471	-0.321867	0.05386	.	.	ENSG00000085563	ENST00000543174;ENST00000265724;ENST00000543898	D;D	0.90133	-2.62;-2.62	5.98	4.17	0.49024	.	0.275476	0.42821	N	0.000645	T	0.75309	0.3832	N	0.04724	-0.175	0.31233	N	0.696108	B;B	0.06786	0.0;0.001	B;B	0.08055	0.002;0.003	T	0.65080	-0.6255	10	0.02654	T	1	-9.4818	10.1965	0.43058	0.2464:0.0:0.7536:0.0	.	319;383	B5AK60;P08183	.;MDR1_HUMAN	Y	164;383;319	ENSP00000265724:H383Y;ENSP00000444095:H319Y	ENSP00000265724:H383Y	H	-	1	0	ABCB1	87017797	0.075000	0.21258	0.993000	0.49108	0.964000	0.63967	0.574000	0.23714	1.531000	0.49152	0.563000	0.77884	CAC		0.323	ABCB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335444.2	NM_000927		14	94	0	0	0	1	0	14	94					A	87179861	G	A	87179861	3	1	435	1	0	0	0	0	1	0	0	0	40	1319	46	3	2767	3	ABCB1	7	87179861	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	41193	87179861	71958802	3649	24574											
ABCB1	5243	broad.mit.edu	37	chr7	87196170	87196170	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctatctcctgtcgcattataGcatgaaaaaactgttttcta	12	15	5	9	1	2	1	0	1	2	0	4	1	2	1	1	0	2	3	1	0	7	6			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:87196170G>T	ENST00000265724.3	-	7	878	c.461C>A	c.(460-462)gCt>gAt	p.A154D	ABCB1_ENST00000543898.1_Intron	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 1	154	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				drug transmembrane transport (GO:0006855)|G2/M transition of mitotic cell cycle (GO:0000086)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|stem cell proliferation (GO:0072089)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)|xenobiotic-transporting ATPase activity (GO:0008559)			NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111	Esophageal squamous(14;0.00164)				Acebutolol(DB01193)|Acetaminophen(DB00316)|Acetylsalicylic acid(DB00945)|Adenosine triphosphate(DB00171)|ado-trastuzumab emtansine(DB05773)|Afatinib(DB08916)|Albendazole(DB00518)|Alfentanil(DB00802)|Alitretinoin(DB00523)|Amantadine(DB00915)|Aminohippurate(DB00345)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amprenavir(DB00701)|Amsacrine(DB00276)|Apixaban(DB06605)|Arsenic trioxide(DB01169)|Astemizole(DB00637)|Atazanavir(DB01072)|Atenolol(DB00335)|Atorvastatin(DB01076)|Axitinib(DB06626)|Azelastine(DB00972)|Azithromycin(DB00207)|Benzocaine(DB01086)|Bepridil(DB01244)|Betamethasone(DB00443)|Biperiden(DB00810)|Boceprevir(DB08873)|Bosutinib(DB06616)|Brentuximab vedotin(DB08870)|Bromocriptine(DB01200)|Buprenorphine(DB00921)|Buspirone(DB00490)|Cabazitaxel(DB06772)|Caffeine(DB00201)|Canagliflozin(DB08907)|Candesartan(DB00796)|Captopril(DB01197)|Carbamazepine(DB00564)|Carfilzomib(DB08889)|Carvedilol(DB01136)|Caspofungin(DB00520)|Chloroquine(DB00608)|Chlorpromazine(DB00477)|Chlorpropamide(DB00672)|Chlorprothixene(DB01239)|Cilazapril(DB01340)|Cimetidine(DB00501)|Ciprofloxacin(DB00537)|Cisplatin(DB00515)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Clofazimine(DB00845)|Clomifene(DB00882)|Clomipramine(DB01242)|Clonidine(DB00575)|Clopidogrel(DB00758)|Clotrimazole(DB00257)|Clozapine(DB00363)|Colchicine(DB01394)|Conjugated Estrogens(DB00286)|Crizotinib(DB08865)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dabigatran etexilate(DB06695)|Dabrafenib(DB08912)|Dactinomycin(DB00970)|Dapagliflozin(DB06292)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Debrisoquin(DB04840)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexamethasone(DB01234)|Dextromethorphan(DB00514)|Diazepam(DB00829)|Diclofenac(DB00586)|Diethylstilbestrol(DB00255)|Digitoxin(DB01396)|Digoxin(DB00390)|Dihydroergotamine(DB00320)|Diltiazem(DB00343)|Dipyridamole(DB00975)|Docetaxel(DB01248)|Domperidone(DB01184)|Doxazosin(DB00590)|Doxepin(DB01142)|Doxorubicin(DB00997)|Dronabinol(DB00470)|Dronedarone(DB04855)|Eletriptan(DB00216)|Enalapril(DB00584)|Enzalutamide(DB08899)|Epinastine(DB00751)|Ergonovine(DB01253)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estrone(DB00655)|Ethinyl Estradiol(DB00977)|Etoposide(DB00773)|Etravirine(DB06414)|Ezetimibe(DB00973)|Felodipine(DB01023)|Fentanyl(DB00813)|Fesoterodine(DB06702)|Fexofenadine(DB00950)|Fidaxomicin(DB08874)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flupentixol(DB00875)|Fluphenazine(DB00623)|Flurazepam(DB00690)|Fluticasone furoate(DB08906)|Fluvoxamine(DB00176)|Gefitinib(DB00317)|Gemcitabine(DB00441)|Glyburide(DB01016)|Gramicidin D(DB00027)|Haloperidol(DB00502)|Hydrocortisone(DB00741)|Ibuprofen(DB01050)|Imatinib(DB00619)|Imipramine(DB00458)|Indacaterol(DB05039)|Indinavir(DB00224)|Indomethacin(DB00328)|Irinotecan(DB00762)|Itraconazole(DB01167)|Ivacaftor(DB08820)|Ivermectin(DB00602)|Ketamine(DB01221)|Ketazolam(DB01587)|Ketoconazole(DB01026)|Lamivudine(DB00709)|Lamotrigine(DB00555)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Lenalidomide(DB00480)|Levetiracetam(DB01202)|Levofloxacin(DB01137)|Levomilnacipran(DB08918)|Levothyroxine(DB00451)|Lidocaine(DB00281)|Linagliptin(DB08882)|Liothyronine(DB00279)|Liotrix(DB01583)|Lisinopril(DB00722)|Lomitapide(DB08827)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Losartan(DB00678)|Lovastatin(DB00227)|Mannitol(DB00742)|Maprotiline(DB00934)|Mebendazole(DB00643)|Mefloquine(DB00358)|Megestrol acetate(DB00351)|Meprobamate(DB00371)|Methadone(DB00333)|Methotrexate(DB00563)|Methylprednisolone(DB00959)|Metoprolol(DB00264)|Miconazole(DB01110)|Midazolam(DB00683)|Mifepristone(DB00834)|Mirabegron(DB08893)|Mitomycin(DB00305)|Mitoxantrone(DB01204)|Morphine(DB00295)|Mycophenolate mofetil(DB00688)|Nadolol(DB01203)|Naloxone(DB01183)|Naltrexone(DB00704)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Neostigmine(DB01400)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nisoldipine(DB00401)|Nitrazepam(DB01595)|Nitrendipine(DB01054)|Nizatidine(DB00585)|Norethindrone(DB00717)|Olanzapine(DB00334)|Omeprazole(DB00338)|Paclitaxel(DB01229)|Pantoprazole(DB00213)|Paroxetine(DB00715)|Pazopanib(DB06589)|Perindopril(DB00790)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Pimozide(DB01100)|Pitavastatin(DB08860)|Pomalidomide(DB08910)|Ponatinib(DB08901)|Posaconazole(DB01263)|Pravastatin(DB00175)|Prazosin(DB00457)|Prednisolone(DB00860)|Prednisone(DB00635)|Probenecid(DB01032)|Progesterone(DB00396)|Promethazine(DB01069)|Propafenone(DB01182)|Propranolol(DB00571)|Protriptyline(DB00344)|Quetiapine(DB01224)|Quinacrine(DB01103)|Quinidine(DB00908)|Quinine(DB00468)|Ranitidine(DB00863)|Reboxetine(DB00234)|Regorafenib(DB08896)|Reserpine(DB00206)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Risperidone(DB00734)|Ritonavir(DB00503)|Rivaroxaban(DB06228)|Roxithromycin(DB00778)|Salicylic acid(DB00936)|Saquinavir(DB01232)|Scopolamine(DB00747)|Selegiline(DB01037)|Sertraline(DB01104)|Silodosin(DB06207)|SIMEPREVIR(DB06290)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sitagliptin(DB01261)|SOFOSBUVIR(DB08934)|Sorafenib(DB00398)|Sparfloxacin(DB01208)|Spironolactone(DB00421)|Streptozocin(DB00428)|Sulfinpyrazone(DB01138)|Sumatriptan(DB00669)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tamoxifen(DB00675)|Telaprevir(DB05521)|Telmisartan(DB00966)|Temsirolimus(DB06287)|Terazosin(DB01162)|Testosterone(DB00624)|Ticagrelor(DB08816)|Timolol(DB00373)|Tolvaptan(DB06212)|Topotecan(DB01030)|Toremifene(DB00539)|Trazodone(DB00656)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Trimethoprim(DB00440)|Trimipramine(DB00726)|Troleandomycin(DB01361)|Vecuronium(DB01339)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)|Vinorelbine(DB00361)|Vismodegib(DB08828)|Voacamine(DB04877)|Zidovudine(DB00495)	TCGCATTATAGCATGAAAAAA	0.423																																						ENST00000265724.3																			0				NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111						c.(460-462)gCt>gAt		ATP-binding cassette, sub-family B (MDR/TAP), member 1	Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570)						134	138	137					7																	87196170		2203	4300	6503	SO:0001583	missense	5243				G2/M transition of mitotic cell cycle|stem cell proliferation	apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction	ATP binding|protein binding|xenobiotic-transporting ATPase activity	g.chr7:87196170G>T	M14758	CCDS5608.1	7q21.12	2012-03-14	2004-05-12		ENSG00000085563	ENSG00000085563		"CD molecules", "ATP binding cassette transporters / subfamily B"	40	protein-coding gene	gene with protein product	"multidrug resistance protein 1"	171050	"colchicin sensitivity"	PGY1, MDR1, CLCS		3027054	Standard	NM_000927		Approved	P-gp, CD243, GP170, ABC20	uc003uiz.2	P08183	OTTHUMG00000023393	ENST00000265724.3:c.461C>A	7.37:g.87196170G>T	ENSP00000265724:p.Ala154Asp					ABCB1_ENST00000543898.1_Intron	p.A154D	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN			7	878	-	Esophageal squamous(14;0.00164)		154			ABC transmembrane type-1 1.		A8K294|B5AK60|Q12755|Q14812	Missense_Mutation	SNP	ENST00000265724.3	37	c.461C>A	CCDS5608.1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.258599	0.80246	.	.	ENSG00000085563	ENST00000265724	D	0.90676	-2.71	5.91	5.91	0.95273	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.494167	0.23537	N	0.047108	D	0.96430	0.8835	H	0.95679	3.705	0.80722	D	1	D	0.60575	0.988	P	0.56823	0.807	D	0.96750	0.9553	10	0.62326	D	0.03	-6.7113	20.2963	0.98556	0.0:0.0:1.0:0.0	.	154	P08183	MDR1_HUMAN	D	154	ENSP00000265724:A154D	ENSP00000265724:A154D	A	-	2	0	ABCB1	87034106	0.938000	0.31826	0.967000	0.41034	0.928000	0.56348	5.291000	0.65667	2.813000	0.96785	0.655000	0.94253	GCT		0.423	ABCB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335444.2	NM_000927		22	44	1	0	5.45024e-15	1	5.96122e-15	22	44					T	87196170	G	T	87196170	3	4	435	1	0	0	0	0	1	0	0	0	40	971	34	5	3473	5	ABCB1	7	87196170	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	16309	87196170	71942493	3650	24575											
ADAM22	53616	broad.mit.edu	37	chr7	87757933	87757933	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acagcttcgtcgatatcctcGtaatgtagaagaagaaacca	15	9	8	9	3	0	3	0	0	0	3	4	4	1	3	2	0	2	3	2	0	6	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:87757933G>A	ENST00000265727.7	+	9	774	c.695G>A	c.(694-696)cGt>cAt	p.R232H	ADAM22_ENST00000315984.7_Missense_Mutation_p.R232H|ADAM22_ENST00000439864.1_Missense_Mutation_p.R232H|ADAM22_ENST00000398204.4_Missense_Mutation_p.R232H|ADAM22_ENST00000398209.3_Missense_Mutation_p.R232H|ADAM22_ENST00000398201.4_Missense_Mutation_p.R232H			Q9P0K1	ADA22_HUMAN	ADAM metallopeptidase domain 22	232					adult locomotory behavior (GO:0008344)|cell adhesion (GO:0007155)|central nervous system development (GO:0007417)|myelination in peripheral nervous system (GO:0022011)|negative regulation of cell adhesion (GO:0007162)	integral component of membrane (GO:0016021)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			endometrium(7)|kidney(4)|large_intestine(7)|liver(2)|lung(20)|ovary(6)|prostate(4)|skin(3)	53	Esophageal squamous(14;0.00202)		STAD - Stomach adenocarcinoma(171;0.215)			CGATATCCTCGTAATGTAGAA	0.393																																						ENST00000398204.4																			0				endometrium(7)|kidney(4)|large_intestine(7)|liver(2)|lung(20)|ovary(6)|prostate(4)|skin(3)	53						c.(694-696)cGt>cAt		ADAM metallopeptidase domain 22							219	200	206					7																	87757933		1894	4108	6002	SO:0001583	missense	53616				cell adhesion|central nervous system development|negative regulation of cell adhesion|proteolysis	integral to membrane	integrin binding|metalloendopeptidase activity|protein binding|receptor activity|zinc ion binding	g.chr7:87757933G>A	AB009671	CCDS43608.1, CCDS43609.1, CCDS43610.1, CCDS47637.1	7q21	2008-07-18	2005-08-18		ENSG00000008277	ENSG00000008277		"ADAM metallopeptidase domain containing"	201	protein-coding gene	gene with protein product	"metalloproteinase-like, disintegrin-like, and cysteine-rich protein 2"	603709	"a disintegrin and metalloproteinase domain 22"			9693107, 10524237	Standard	NM_021723		Approved	MDC2	uc003ujn.3	Q9P0K1	OTTHUMG00000137417	ENST00000265727.7:c.695G>A	7.37:g.87757933G>A	ENSP00000265727:p.Arg232His					ADAM22_ENST00000315984.7_Missense_Mutation_p.R232H|ADAM22_ENST00000398201.4_Missense_Mutation_p.R232H|ADAM22_ENST00000439864.1_Missense_Mutation_p.R232H|ADAM22_ENST00000265727.7_Missense_Mutation_p.R232H|ADAM22_ENST00000398209.3_Missense_Mutation_p.R232H	p.R232H	NM_016351.4|NM_021723.3	NP_057435.2|NP_068369.1	Q9P0K1	ADA22_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)		9	1018	+	Esophageal squamous(14;0.00202)		232					O75075|O75076|Q9P0K2|Q9UIA1|Q9UKK2	Missense_Mutation	SNP	ENST00000265727.7	37	c.695G>A	CCDS47637.1	.	.	.	.	.	.	.	.	.	.	G	16.91	3.251870	0.59212	.	.	ENSG00000008277	ENST00000398204;ENST00000439864;ENST00000398201;ENST00000265727;ENST00000315984;ENST00000398209;ENST00000398203	T;T;T;T;T;T;T	0.08370	3.96;3.1;3.99;4.0;4.06;4.04;4.01	5.1	5.1	0.69264	.	0.115906	0.64402	D	0.000012	T	0.07052	0.0179	L	0.29908	0.895	0.80722	D	1	B;P;B;B;P;B	0.43826	0.111;0.467;0.111;0.193;0.818;0.111	B;B;B;B;B;B	0.36808	0.041;0.233;0.041;0.09;0.176;0.051	T	0.19614	-1.0300	10	0.59425	D	0.04	.	12.9066	0.58156	0.0783:0.0:0.9217:0.0	.	284;232;232;232;232;232	E9PBH5;Q9P0K1-5;Q9P0K1;Q9P0K1-2;E7EPF1;D6W5P7	.;.;ADA22_HUMAN;.;.;.	H	232;232;232;232;232;232;199	ENSP00000381262:R232H;ENSP00000391334:R232H;ENSP00000381260:R232H;ENSP00000265727:R232H;ENSP00000315900:R232H;ENSP00000381267:R232H;ENSP00000381261:R199H	ENSP00000265727:R232H	R	+	2	0	ADAM22	87595869	1.000000	0.71417	0.999000	0.59377	0.991000	0.79684	4.973000	0.63763	2.372000	0.80975	0.655000	0.94253	CGT		0.393	ADAM22-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000268370.2	NM_021723		28	51	0	0	0	1	0	28	51					A	87757933	G	A	87757933	3	1	435	1	0	0	0	0	1	0	0	0	244	1145	40	1	729	1	ADAM22	7	87757933	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	561763	87757933	71380730	3651	24576											
ADAM22	53616	broad.mit.edu	37	chr7	87816006	87816006	+	Intron	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tgaataaaaacactgaaggaCcatactttaggtattttata	17	13	6	5	0	0	2	0	2	0	0	0	3	0	3	1	2	2	1	1	2	10	8			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:87816006C>T	ENST00000265727.7	+	29	2655				ADAM22_ENST00000315984.7_Missense_Mutation_p.P849S|ADAM22_ENST00000398204.4_Intron|ADAM22_ENST00000398209.3_Missense_Mutation_p.P849S			Q9P0K1	ADA22_HUMAN	ADAM metallopeptidase domain 22						adult locomotory behavior (GO:0008344)|cell adhesion (GO:0007155)|central nervous system development (GO:0007417)|myelination in peripheral nervous system (GO:0022011)|negative regulation of cell adhesion (GO:0007162)	integral component of membrane (GO:0016021)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			endometrium(7)|kidney(4)|large_intestine(7)|liver(2)|lung(20)|ovary(6)|prostate(4)|skin(3)	53	Esophageal squamous(14;0.00202)		STAD - Stomach adenocarcinoma(171;0.215)			CACTGAAGGACCATACTTTAG	0.353																																						ENST00000398209.3																			0				endometrium(7)|kidney(4)|large_intestine(7)|liver(2)|lung(20)|ovary(6)|prostate(4)|skin(3)	53						c.(2545-2547)Cca>Tca		ADAM metallopeptidase domain 22							104	100	101					7																	87816006		1814	4065	5879	SO:0001627	intron_variant	53616				cell adhesion|central nervous system development|negative regulation of cell adhesion|proteolysis	integral to membrane	integrin binding|metalloendopeptidase activity|protein binding|receptor activity|zinc ion binding	g.chr7:87816006C>T	AB009671	CCDS43608.1, CCDS43609.1, CCDS43610.1, CCDS47637.1	7q21	2008-07-18	2005-08-18		ENSG00000008277	ENSG00000008277		"ADAM metallopeptidase domain containing"	201	protein-coding gene	gene with protein product	"metalloproteinase-like, disintegrin-like, and cysteine-rich protein 2"	603709	"a disintegrin and metalloproteinase domain 22"			9693107, 10524237	Standard	NM_021723		Approved	MDC2	uc003ujn.3	Q9P0K1	OTTHUMG00000137417	ENST00000265727.7:c.2576+4667C>T	7.37:g.87816006C>T						ADAM22_ENST00000315984.7_Missense_Mutation_p.P849S|ADAM22_ENST00000265727.7_Intron|ADAM22_ENST00000398204.4_Intron	p.P849S	NM_021722.4	NP_068368.2	Q9P0K1	ADA22_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)		29	2591	+	Esophageal squamous(14;0.00202)		859					O75075|O75076|Q9P0K2|Q9UIA1|Q9UKK2	Missense_Mutation	SNP	ENST00000265727.7	37	c.2545C>T	CCDS47637.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.50|14.50	2.553578|2.553578	0.45487|0.45487	.|.	.|.	ENSG00000008277|ENSG00000008277	ENST00000315984;ENST00000398209;ENST00000426930|ENST00000413139	T;T;T|.	0.45276|.	4.54;4.54;0.9|.	5.56|5.56	5.56|5.56	0.83823|0.83823	.|.	.|.	.|.	.|.	.|.	T|T	0.43233|0.43233	0.1238|0.1238	N|N	0.19112|0.19112	0.55|0.55	0.29616|0.29616	N|N	0.846609|0.846609	D|.	0.71674|.	0.998|.	D|.	0.72625|.	0.978|.	T|T	0.35847|0.35847	-0.9772|-0.9772	9|5	0.66056|.	D|.	0.02|.	.|.	18.062|18.062	0.89380|0.89380	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	849|.	Q9P0K1-2|.	.|.	S|I	849;849;280|213	ENSP00000315900:P849S;ENSP00000381267:P849S;ENSP00000396233:P280S|.	ENSP00000315900:P849S|.	P|T	+|+	1|2	0|0	ADAM22|ADAM22	87653942|87653942	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	5.521000|5.521000	0.67086|0.67086	2.773000|2.773000	0.95371|0.95371	0.655000|0.655000	0.94253|0.94253	CCA|ACC		0.353	ADAM22-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000268370.2	NM_021723		38	78	0	0	0	1	0	38	78					T	87816006	C	T	87816006	1	4	435	0	1	0	0	0	0	0	0	0	244	507	18	3		3	ADAM22	7	87816006	Intron	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	58073	87816006	71322657	3652	24577											
SRI	6717	broad.mit.edu	37	chr7	87846500	87846500	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caattcatcagcatctatctGcccatccttttgaaaaaaaa	15	12	3	11	0	4	1	2	1	2	0	5	1	5	1	2	0	2	1	2	0	6	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:87846500G>A	ENST00000265729.2	-	3	194	c.142C>T	c.(142-144)Cag>Tag	p.Q48*	SRI_ENST00000431660.1_Nonsense_Mutation_p.Q33*|CTB-167B5.1_ENST00000520993.1_RNA|SRI_ENST00000419179.1_Nonsense_Mutation_p.Q48*|SRI_ENST00000490437.1_Nonsense_Mutation_p.Q5*|AC003991.3_ENST00000594469.1_RNA|SRI_ENST00000394641.3_Nonsense_Mutation_p.Q33*	NM_003130.3	NP_003121.1	P30626	SORCN_HUMAN	sorcin	48	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.				action potential (GO:0001508)|calcium ion transport (GO:0006816)|cytoplasmic sequestering of transcription factor (GO:0042994)|heart development (GO:0007507)|intracellular sequestering of iron ion (GO:0006880)|muscle organ development (GO:0007517)|negative regulation of heart rate (GO:0010459)|negative regulation of ryanodine-sensitive calcium-release channel activity (GO:0060315)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0035774)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|proteolysis (GO:0006508)|regulation of calcium ion transport (GO:0051924)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cell communication by electrical coupling (GO:0010649)|regulation of cell communication by electrical coupling involved in cardiac conduction (GO:1901844)|regulation of heart contraction (GO:0008016)|regulation of high voltage-gated calcium channel activity (GO:1901841)|regulation of relaxation of muscle (GO:1901077)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of striated muscle contraction (GO:0006942)|signal transduction (GO:0007165)|transport (GO:0006810)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)|Z disc (GO:0030018)	calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|ion channel binding (GO:0044325)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|receptor binding (GO:0005102)			large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	5	Esophageal squamous(14;0.00202)					GCATCTATCTGCCCATCCTTT	0.353																																						ENST00000265729.2																			0				large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	5						c.(142-144)Cag>Tag		sorcin							113	106	109					7																	87846500		2203	4300	6503	SO:0001587	stop_gained	6717				heart development|intracellular sequestering of iron ion|muscle organ development|regulation of action potential|regulation of heart contraction|regulation of striated muscle contraction|signal transduction	sarcoplasmic reticulum membrane	calcium channel regulator activity|calcium ion binding|receptor binding	g.chr7:87846500G>A	M32886	CCDS5612.1, CCDS47638.1, CCDS59063.1	7q21.1	2014-09-17			ENSG00000075142	ENSG00000075142		"EF-hand domain containing"	11292	protein-coding gene	gene with protein product		182520				2901906	Standard	NM_001256891		Approved		uc003ujq.2	P30626	OTTHUMG00000157267	ENST00000265729.2:c.142C>T	7.37:g.87846500G>A	ENSP00000265729:p.Gln48*					SRI_ENST00000431660.1_Nonsense_Mutation_p.Q33*|CTB-167B5.1_ENST00000520993.1_RNA|SRI_ENST00000394641.3_Nonsense_Mutation_p.Q33*|SRI_ENST00000490437.1_Nonsense_Mutation_p.Q5*|SRI_ENST00000419179.1_Nonsense_Mutation_p.Q48*	p.Q48*	NM_003130.3	NP_003121.1	P30626	SORCN_HUMAN			3	194	-	Esophageal squamous(14;0.00202)		48			EF-hand 1.		A8MTH6|B4DKK2|D6W5Q0	Nonsense_Mutation	SNP	ENST00000265729.2	37	c.142C>T	CCDS5612.1	.	.	.	.	.	.	.	.	.	.	G	36	5.629469	0.96671	.	.	ENSG00000075142	ENST00000265729;ENST00000419179;ENST00000490437;ENST00000394641;ENST00000431660	.	.	.	5.68	5.68	0.88126	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.49607	T	0.09	.	19.7685	0.96352	0.0:0.0:1.0:0.0	.	.	.	.	X	48;48;5;33;33	.	ENSP00000265729:Q48X	Q	-	1	0	SRI	87684436	1.000000	0.71417	0.996000	0.52242	0.918000	0.54935	6.270000	0.72563	2.677000	0.91161	0.650000	0.86243	CAG		0.353	SRI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253680.1	NM_003130		20	36	0	0	0	1	0	20	36					A	87846500	G	A	87846500	4	1	435	1	0	0	0	0	0	1	0	0	15148	1328	46	3	478	3	SRI	7	87846500	Nonsense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	30494	87846500	71292163	3653	24578											
ZNF804B	219578	broad.mit.edu	37	chr7	88965976	88965976	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgcttccttaagttctcataGcagtcacctccctattgctc	7	15	5	14	0	2	0	2	0	1	0	6	0	4	0	3	0	3	4	3	0	3	6			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:88965976G>A	ENST00000333190.4	+	4	4289	c.3680G>A	c.(3679-3681)aGc>aAc	p.S1227N		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	1227							metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			AGTTCTCATAGCAGTCACCTC	0.473										HNSCC(36;0.09)																												ENST00000333190.4																			0				NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144						c.(3679-3681)aGc>aAc		zinc finger protein 804B							208	178	188					7																	88965976		2203	4300	6503	SO:0001583	missense	219578					intracellular	zinc ion binding	g.chr7:88965976G>A	AK056672	CCDS5613.1	7q21.13	2012-10-05	2006-12-18		ENSG00000182348	ENSG00000182348			21958	protein-coding gene	gene with protein product			"zinc finger 804B"				Standard	NM_181646		Approved	FLJ32110	uc011khi.2	A4D1E1	OTTHUMG00000131037	ENST00000333190.4:c.3680G>A	7.37:g.88965976G>A	ENSP00000329638:p.Ser1227Asn	HNSCC(36;0.09)					p.S1227N	NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	STAD - Stomach adenocarcinoma(171;0.0513)		4	4289	+	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		1227					B2RTV2|Q7Z714|Q96MN7	Missense_Mutation	SNP	ENST00000333190.4	37	c.3680G>A	CCDS5613.1	.	.	.	.	.	.	.	.	.	.	G	0.008	-1.880266	0.00537	.	.	ENSG00000182348	ENST00000333190	T	0.05139	3.49	4.84	2.0	0.26442	.	0.649781	0.15679	N	0.249987	T	0.05318	0.0141	L	0.36672	1.1	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.43686	-0.9376	10	0.20519	T	0.43	-0.7477	8.4917	0.33104	0.205:0.1137:0.6813:0.0	.	1227	A4D1E1	Z804B_HUMAN	N	1227	ENSP00000329638:S1227N	ENSP00000329638:S1227N	S	+	2	0	ZNF804B	88803912	0.002000	0.14202	0.425000	0.26659	0.147000	0.21601	1.451000	0.35145	0.060000	0.16281	-0.797000	0.03246	AGC		0.473	ZNF804B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253683.2	NM_181646		23	47	0	0	0	1	0	23	47					A	88965976	G	A	88965976	3	1	435	1	0	0	0	0	1	0	0	0	18168	971	34	3	3694	3	ZNF804B	7	88965976	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	1119476	88965976	70172687	3654	24579											
GTPBP10	85865	broad.mit.edu	37	chr7	90006927	90006927	+	Splice_Site	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aactagacaactactttttgTtgtaagtcatatgtatacta	14	16	5	6	0	1	1	1	0	0	1	1	1	1	1	0	0	4	3	0	0	9	10			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:90006927T>A	ENST00000222511.6	+	7	764	c.698T>A	c.(697-699)gTt>gAt	p.V233D	GTPBP10_ENST00000257659.8_Splice_Site_p.V154D	NM_033107.3	NP_149098.2	A4D1E9	GTPBA_HUMAN	GTP-binding protein 10 (putative)	233	OBG-type G. {ECO:0000255|PROSITE- ProRule:PRU01047}.				ribosome biogenesis (GO:0042254)	chromosome (GO:0005694)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|magnesium ion binding (GO:0000287)|poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(2)|large_intestine(3)|lung(4)	10						CTACTTTTTGTTGTAAGTCAT	0.303																																						ENST00000222511.6																			0				endometrium(1)|kidney(2)|large_intestine(3)|lung(4)	10						c.e7+1		GTP-binding protein 10 (putative)							68	69	69					7																	90006927		2203	4295	6498	SO:0001630	splice_region_variant	85865				ribosome biogenesis	chromosome|nucleolus	GTP binding|GTPase activity|magnesium ion binding	g.chr7:90006927T>A		CCDS5617.1, CCDS43614.1	7q21.13	2006-08-15			ENSG00000105793	ENSG00000105793			25106	protein-coding gene	gene with protein product		610920				12477932	Standard	NM_001042717		Approved	DKFZP686A10121, FLJ38242	uc003ukm.2	A4D1E9	OTTHUMG00000023655	ENST00000222511.6:c.699+1T>A	7.37:g.90006927T>A						GTPBP10_ENST00000257659.8_Splice_Site_p.V154_splice	p.V233_splice	NM_033107.3	NP_149098.2	A4D1E9	GTPBA_HUMAN			7	764	+			233					B4DFY6|Q3B7A6|Q5H9V2|Q8IXG8|Q8N982|Q8WU16|Q9BSP1|Q9Y6T6	Splice_Site	SNP	ENST00000222511.6	37	c.699_splice	CCDS5617.1	.	.	.	.	.	.	.	.	.	.	T	26.5	4.746300	0.89663	.	.	ENSG00000105793	ENST00000257659;ENST00000222511;ENST00000417207	T;T;T	0.36340	1.26;1.26;1.26	5.89	5.89	0.94794	GTP1/OBG (1);GTP-binding domain, HSR1-related (1);	0.056132	0.64402	D	0.000001	T	0.75133	0.3808	H	0.97918	4.105	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.91635	0.999;0.991	D	0.85132	0.0975	9	.	.	.	-23.1492	16.2915	0.82755	0.0:0.0:0.0:1.0	.	154;233	A4D1E9-2;A4D1E9	.;GTPBA_HUMAN	D	154;233;160	ENSP00000257659:V154D;ENSP00000222511:V233D;ENSP00000416596:V160D	.	V	+	2	0	GTPBP10	89844863	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	7.555000	0.82223	2.248000	0.74166	0.528000	0.53228	GTT		0.303	GTPBP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059976.3	NM_033107	Missense_Mutation	40	44	0	0	0	1	0	40	44					A	90006927	T	A	90006927	5	1	435	1	0	0	0	0	0	0	1	0	6879	1739	60	5	724	5	GTPBP10	7	90006927	Splice_Site	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	1040951	90006927	69131736	3655	24580											
CDK14	5218	broad.mit.edu	37	chr7	90356036	90356036	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gctaatcaagtaaagagggtGcattctgagaacaatgcttg	14	10	11	6	0	2	2	1	1	1	2	2	3	2	2	0	1	3	4	0	1	6	4	rs374078260		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:90356036G>A	ENST00000380050.3	+	3	410	c.279G>A	c.(277-279)gtG>gtA	p.V93V	CDK14_ENST00000406263.1_Silent_p.V47V|CDK14_ENST00000436577.2_5'UTR|CDK14_ENST00000265741.3_Silent_p.V75V			O94921	CDK14_HUMAN	cyclin-dependent kinase 14	93					cell division (GO:0051301)|G2/M transition of mitotic cell cycle (GO:0000086)|regulation of canonical Wnt signaling pathway (GO:0060828)|regulation of cell cycle (GO:0051726)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|cytoplasmic cyclin-dependent protein kinase holoenzyme complex (GO:0000308)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cyclin binding (GO:0030332)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)			breast(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(1)|lung(12)|ovary(1)|skin(4)	32						TAAAGAGGGTGCATTCTGAGA	0.468																																					GBM(83;1228 1256 8311 16577 31299)	ENST00000406263.1																			0				breast(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(1)|lung(12)|ovary(1)|skin(4)	32						c.(139-141)gtG>gtA		cyclin-dependent kinase 14		G		0,4406		0,0,2203	127	111	117		225	-3.2	1	7		117	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	CDK14	NM_012395.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		75/452	90356036	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	5218				cell division|G2/M transition of mitotic cell cycle|regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	cytoplasmic cyclin-dependent protein kinase holoenzyme complex|nucleus|plasma membrane	ATP binding|cyclin binding|cyclin-dependent protein kinase activity	g.chr7:90356036G>A		CCDS5619.1, CCDS75626.1, CCDS75627.1, CCDS75628.1	7q21-q22	2011-11-08	2009-12-16	2009-12-16	ENSG00000058091	ENSG00000058091		"Cyclin-dependent kinases"	8883	protein-coding gene	gene with protein product		610679	"PFTAIRE protein kinase 1"	PFTK1		9202329, 11313143, 19884882	Standard	XM_005250436		Approved	PFTAIRE1	uc003ukz.1	O94921	OTTHUMG00000023649	ENST00000380050.3:c.279G>A	7.37:g.90356036G>A						CDK14_ENST00000436577.2_5'UTR|CDK14_ENST00000265741.3_Silent_p.V75V|CDK14_ENST00000380050.3_Silent_p.V93V	p.V47V			O94921	CDK14_HUMAN			2	583	+			93					A4D1E6|A6NK51|A8WFP6|B4DHG5|B4DNM2|Q75N06|Q75N22|Q8N764|Q9H3D7|Q9UDR0	Silent	SNP	ENST00000380050.3	37	c.141G>A																																																																																					0.468	CDK14-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000059970.5	NM_012395		25	34	0	0	0	1	0	25	34					A	90356036	G	A	90356036	2	1	435	1	0	0	0	0	0	0	0	1	3130	1306	46	3		3	CDK14	7	90356036	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	349109	90356036	68782627	3656	24581											
FZD1	8321	broad.mit.edu	37	chr7	90895851	90895851	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtgccagccaccatcgtcatCgcctgctacttctacgagca	8	9	8	16	3	2	0	1	0	1	0	4	1	2	0	4	0	6	2	4	0	2	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:90895851C>T	ENST00000287934.2	+	1	2069	c.1656C>T	c.(1654-1656)atC>atT	p.I552I		NM_003505.1	NP_003496.1	Q9UP38	FZD1_HUMAN	frizzled class receptor 1	552					autocrine signaling (GO:0035425)|axonogenesis (GO:0007409)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in mesenchymal stem cell differentiation (GO:0044338)|canonical Wnt signaling pathway involved in osteoblast differentiation (GO:0044339)|cell-cell signaling (GO:0007267)|epithelial cell differentiation (GO:0030855)|G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:0007199)|gonad development (GO:0008406)|hard palate development (GO:0060022)|lung alveolus development (GO:0048286)|membranous septum morphogenesis (GO:0003149)|muscular septum morphogenesis (GO:0003150)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catenin import into nucleus (GO:0035414)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron differentiation (GO:0030182)|outflow tract morphogenesis (GO:0003151)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription, DNA-templated (GO:0045893)|response to drug (GO:0042493)|vasculature development (GO:0001944)|Wnt signaling pathway, calcium modulating pathway (GO:0007223)	apical part of cell (GO:0045177)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|neuron projection membrane (GO:0032589)|plasma membrane (GO:0005886)	frizzled binding (GO:0005109)|G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|receptor binding (GO:0005102)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24	all_cancers(62;3.1e-10)|all_epithelial(64;1.66e-08)|Breast(17;0.000635)|Lung NSC(181;0.153)|all_lung(186;0.154)|all_hematologic(106;0.215)		STAD - Stomach adenocarcinoma(171;0.0134)			CCATCGTCATCGCCTGCTACT	0.607																																						ENST00000287934.2																			0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						c.(1654-1656)atC>atT		frizzled family receptor 1							87	67	74					7																	90895851		2203	4300	6503	SO:0001819	synonymous_variant	8321				autocrine signaling|axonogenesis|brain development|canonical Wnt receptor signaling pathway involved in mesenchymal stem cell differentiation|canonical Wnt receptor signaling pathway involved in osteoblast differentiation|embryo development|epithelial cell differentiation|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|lung alveolus development|negative regulation of BMP signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to drug|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway	apical part of cell|cell surface|cytoplasm|integral to membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|receptor binding|Wnt receptor activity|Wnt-protein binding	g.chr7:90895851C>T	AB017363	CCDS5620.1	7q21	2014-01-29	2014-01-29		ENSG00000157240	ENSG00000157240		"GPCR / Class F : Frizzled receptors"	4038	protein-coding gene	gene with protein product	"Wnt receptor", "frizzled, Drosophila, homolog of, 1"	603408	"frizzled (Drosophila) homolog 1", "frizzled homolog 1 (Drosophila)", "frizzled 1, seven transmembrane spanning receptor", "frizzled family receptor 1"			9813155	Standard	NM_003505		Approved	DKFZp564G072	uc003ula.3	Q9UP38	OTTHUMG00000023046	ENST00000287934.2:c.1656C>T	7.37:g.90895851C>T							p.I552I	NM_003505.1	NP_003496.1	Q9UP38	FZD1_HUMAN	STAD - Stomach adenocarcinoma(171;0.0134)		1	2069	+	all_cancers(62;3.1e-10)|all_epithelial(64;1.66e-08)|Breast(17;0.000635)|Lung NSC(181;0.153)|all_lung(186;0.154)|all_hematologic(106;0.215)		552					A4D1E8|O94815|Q549T8	Silent	SNP	ENST00000287934.2	37	c.1656C>T	CCDS5620.1																																																																																				0.607	FZD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059367.2	NM_003505		19	25	0	0	0	1	0	19	25					T	90895851	C	T	90895851	2	4	435	1	0	0	0	0	0	0	0	1	6128	874	31	2		2	FZD1	7	90895851	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	539815	90895851	68242812	3657	24582											
AKAP9	10142	broad.mit.edu	37	chr7	91630560	91630560	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctggatgagatgtatgggcaGcagatagtgcaaatgaaaca	15	8	13	5	0	0	3	0	2	0	2	0	5	0	4	0	2	3	4	0	2	4	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:91630560G>T	ENST00000359028.2	+	9	1590	c.1365G>T	c.(1363-1365)caG>caT	p.Q455H	AKAP9_ENST00000356239.3_Missense_Mutation_p.Q443H|AKAP9_ENST00000358100.2_Missense_Mutation_p.Q455H			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	455	Glu-rich.				G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|Sertoli cell development (GO:0060009)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)|synaptic transmission (GO:0007268)|transport (GO:0006810)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|pericentriolar material (GO:0000242)|voltage-gated potassium channel complex (GO:0008076)	ion channel binding (GO:0044325)|protein complex scaffold (GO:0032947)|receptor binding (GO:0005102)			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			TGTATGGGCAGCAGATAGTGC	0.408			T	BRAF	papillary thyroid																																	ENST00000359028.2				Dom	yes		7	7q21-q22	10142	T	A kinase (PRKA) anchor protein (yotiao) 9			E	BRAF		papillary thyroid		0				NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155						c.(1363-1365)caG>caT		A kinase (PRKA) anchor protein 9							107	114	112					7																	91630560		2203	4298	6501	SO:0001583	missense	10142				G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding	g.chr7:91630560G>T	AF091711	CCDS5622.1	7q21-q22	2014-09-17	2013-09-25		ENSG00000127914	ENSG00000127914		"A-kinase anchor proteins", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	379	protein-coding gene	gene with protein product	"A-kinase anchoring protein 450", "AKAP9-BRAF fusion protein", "AKAP120-like protein", "centrosome- and golgi-localized protein kinase N-associated protein", "protein kinase A anchoring protein 9", "A-kinase anchor protein, 350kDa", "protein phosphatase 1, regulatory subunit 45", "yotiao"	604001				9482789, 10390370, 24475373	Standard	NM_147185		Approved	KIAA0803, AKAP350, AKAP450, CG-NAP, YOTIAO, HYPERION, PRKA9, MU-RMS-40.16A, PPP1R45, LQT11	uc003ulg.3	Q99996	OTTHUMG00000131127	ENST00000359028.2:c.1365G>T	7.37:g.91630560G>T	ENSP00000351922:p.Gln455His					AKAP9_ENST00000358100.2_Missense_Mutation_p.Q455H|AKAP9_ENST00000356239.3_Missense_Mutation_p.Q443H	p.Q455H			Q99996	AKAP9_HUMAN	STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)		9	1590	+	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		455			Glu-rich.		A4D1F0|A4D1F2|A4D1F4|O14869|O43355|O94895|Q75N20|Q9UQH3|Q9UQQ4|Q9Y6B8|Q9Y6Y2	Missense_Mutation	SNP	ENST00000359028.2	37	c.1365G>T		.	.	.	.	.	.	.	.	.	.	G	12.37	1.918653	0.33908	.	.	ENSG00000127914	ENST00000356239;ENST00000359028;ENST00000358100;ENST00000413120;ENST00000394565	T;T;T	0.05649	3.43;3.43;3.41	5.41	3.62	0.41486	.	0.188686	0.26255	N	0.025435	T	0.16557	0.0398	L	0.50333	1.59	0.45097	D	0.998115	D;D;D;D	0.89917	0.998;0.999;1.0;1.0	D;D;D;D	0.70935	0.936;0.971;0.961;0.939	T	0.00307	-1.1830	10	0.87932	D	0	.	9.4189	0.38539	0.2173:0.0:0.7827:0.0	.	455;443;443;455	Q99996;Q99996-2;Q99996-3;A4D1E4	AKAP9_HUMAN;.;.;.	H	443;455;455;455;455	ENSP00000348573:Q443H;ENSP00000351922:Q455H;ENSP00000350813:Q455H	ENSP00000348573:Q443H	Q	+	3	2	AKAP9	91468496	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.781000	0.62389	0.771000	0.33359	0.650000	0.86243	CAG		0.408	AKAP9-202	KNOWN	basic	protein_coding	protein_coding		NM_005751		14	67	1	0	1.3612e-06	1	1.41782e-06	14	67					T	91630560	G	T	91630560	3	4	435	1	0	0	0	0	1	0	0	0	459	962	34	5	1359	5	AKAP9	7	91630560	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	734709	91630560	67508103	3658	24583											
AKAP9	10142	broad.mit.edu	37	chr7	91670089	91670089	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	caggaacttgtacgacaataCcaagaacatcaacaggcaac	18	5	7	11	1	1	1	1	0	0	1	1	3	1	2	1	2	6	2	1	2	8	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:91670089C>T	ENST00000359028.2	+	19	5055	c.4830C>T	c.(4828-4830)taC>taT	p.Y1610Y	AKAP9_ENST00000356239.3_Silent_p.Y1598Y|AKAP9_ENST00000358100.2_Silent_p.Y1610Y			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	1610					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|Sertoli cell development (GO:0060009)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)|synaptic transmission (GO:0007268)|transport (GO:0006810)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|pericentriolar material (GO:0000242)|voltage-gated potassium channel complex (GO:0008076)	ion channel binding (GO:0044325)|protein complex scaffold (GO:0032947)|receptor binding (GO:0005102)			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			TACGACAATACCAAGAACATC	0.413			T	BRAF	papillary thyroid																																	ENST00000359028.2				Dom	yes		7	7q21-q22	10142	T	A kinase (PRKA) anchor protein (yotiao) 9			E	BRAF		papillary thyroid		0				NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155						c.(4828-4830)taC>taT		A kinase (PRKA) anchor protein 9							132	116	122					7																	91670089		2203	4300	6503	SO:0001819	synonymous_variant	10142				G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding	g.chr7:91670089C>T	AF091711	CCDS5622.1	7q21-q22	2014-09-17	2013-09-25		ENSG00000127914	ENSG00000127914		"A-kinase anchor proteins", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	379	protein-coding gene	gene with protein product	"A-kinase anchoring protein 450", "AKAP9-BRAF fusion protein", "AKAP120-like protein", "centrosome- and golgi-localized protein kinase N-associated protein", "protein kinase A anchoring protein 9", "A-kinase anchor protein, 350kDa", "protein phosphatase 1, regulatory subunit 45", "yotiao"	604001				9482789, 10390370, 24475373	Standard	NM_147185		Approved	KIAA0803, AKAP350, AKAP450, CG-NAP, YOTIAO, HYPERION, PRKA9, MU-RMS-40.16A, PPP1R45, LQT11	uc003ulg.3	Q99996	OTTHUMG00000131127	ENST00000359028.2:c.4830C>T	7.37:g.91670089C>T						AKAP9_ENST00000358100.2_Silent_p.Y1610Y|AKAP9_ENST00000356239.3_Silent_p.Y1598Y	p.Y1610Y			Q99996	AKAP9_HUMAN	STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)		19	5055	+	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		1610					A4D1F0|A4D1F2|A4D1F4|O14869|O43355|O94895|Q75N20|Q9UQH3|Q9UQQ4|Q9Y6B8|Q9Y6Y2	Silent	SNP	ENST00000359028.2	37	c.4830C>T																																																																																					0.413	AKAP9-202	KNOWN	basic	protein_coding	protein_coding		NM_005751		9	25	0	0	0	1	0	9	25					T	91670089	C	T	91670089	2	4	435	1	0	0	0	0	0	0	0	1	459	518	18	3		3	AKAP9	7	91670089	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	39529	91670089	67468574	3659	24584											
AKAP9	10142	broad.mit.edu	37	chr7	91708964	91708964	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaggttgctacaacttgagaGcactgttagtgcaaaggact	13	10	11	7	0	0	1	0	1	0	1	0	3	0	2	0	2	5	5	0	2	5	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:91708964G>A	ENST00000359028.2	+	32	7778	c.7553G>A	c.(7552-7554)aGc>aAc	p.S2518N	AKAP9_ENST00000356239.3_Missense_Mutation_p.S2506N|AKAP9_ENST00000358100.2_Missense_Mutation_p.S2518N			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	2518	Glu-rich.				G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|Sertoli cell development (GO:0060009)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)|synaptic transmission (GO:0007268)|transport (GO:0006810)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|pericentriolar material (GO:0000242)|voltage-gated potassium channel complex (GO:0008076)	ion channel binding (GO:0044325)|protein complex scaffold (GO:0032947)|receptor binding (GO:0005102)			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			CAACTTGAGAGCACTGTTAGT	0.348			T	BRAF	papillary thyroid																																	ENST00000359028.2				Dom	yes		7	7q21-q22	10142	T	A kinase (PRKA) anchor protein (yotiao) 9			E	BRAF		papillary thyroid		0				NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155						c.(7552-7554)aGc>aAc		A kinase (PRKA) anchor protein 9							50	50	50					7																	91708964		2203	4300	6503	SO:0001583	missense	10142				G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding	g.chr7:91708964G>A	AF091711	CCDS5622.1	7q21-q22	2014-09-17	2013-09-25		ENSG00000127914	ENSG00000127914		"A-kinase anchor proteins", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	379	protein-coding gene	gene with protein product	"A-kinase anchoring protein 450", "AKAP9-BRAF fusion protein", "AKAP120-like protein", "centrosome- and golgi-localized protein kinase N-associated protein", "protein kinase A anchoring protein 9", "A-kinase anchor protein, 350kDa", "protein phosphatase 1, regulatory subunit 45", "yotiao"	604001				9482789, 10390370, 24475373	Standard	NM_147185		Approved	KIAA0803, AKAP350, AKAP450, CG-NAP, YOTIAO, HYPERION, PRKA9, MU-RMS-40.16A, PPP1R45, LQT11	uc003ulg.3	Q99996	OTTHUMG00000131127	ENST00000359028.2:c.7553G>A	7.37:g.91708964G>A	ENSP00000351922:p.Ser2518Asn					AKAP9_ENST00000358100.2_Missense_Mutation_p.S2518N|AKAP9_ENST00000356239.3_Missense_Mutation_p.S2506N	p.S2518N			Q99996	AKAP9_HUMAN	STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)		32	7778	+	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		2518			Glu-rich.		A4D1F0|A4D1F2|A4D1F4|O14869|O43355|O94895|Q75N20|Q9UQH3|Q9UQQ4|Q9Y6B8|Q9Y6Y2	Missense_Mutation	SNP	ENST00000359028.2	37	c.7553G>A		.	.	.	.	.	.	.	.	.	.	G	6.279	0.419653	0.11928	.	.	ENSG00000127914	ENST00000356239;ENST00000359028;ENST00000358100;ENST00000413120;ENST00000394534	T;T;T;T	0.03496	4.0;4.0;4.0;3.91	4.09	1.34	0.21922	.	0.555566	0.15434	N	0.262521	T	0.02193	0.0068	L	0.27053	0.805	0.09310	N	1	B;B;B;B	0.06786	0.001;0.0;0.001;0.001	B;B;B;B	0.06405	0.002;0.001;0.002;0.002	T	0.47005	-0.9150	10	0.18710	T	0.47	.	1.0283	0.01533	0.3637:0.1612:0.3291:0.146	.	2510;2518;2506;2498	Q99996-6;Q99996;Q99996-2;Q99996-3	.;AKAP9_HUMAN;.;.	N	2506;2518;2518;2510;352	ENSP00000348573:S2506N;ENSP00000351922:S2518N;ENSP00000350813:S2518N;ENSP00000378042:S352N	ENSP00000348573:S2506N	S	+	2	0	AKAP9	91546900	0.002000	0.14202	0.996000	0.52242	0.977000	0.68977	-0.132000	0.10467	0.305000	0.22832	0.591000	0.81541	AGC		0.348	AKAP9-202	KNOWN	basic	protein_coding	protein_coding		NM_005751		10	27	0	0	0	1	0	10	27					A	91708964	G	A	91708964	3	1	435	1	0	0	0	0	1	0	0	0	459	971	34	3	7639	3	AKAP9	7	91708964	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	38875	91708964	67429699	3660	24585											
AKAP9	10142	broad.mit.edu	37	chr7	91709345	91709345	+	Frame_Shift_Del	DEL	A	A	-																															agaacaagtagaaattgcagAaaaaaatgttttagaaaaag																										TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:91709345delA	ENST00000359028.2	+	32	8159	c.7934delA	c.(7933-7935)gaafs	p.E2645fs	AKAP9_ENST00000356239.3_Frame_Shift_Del_p.E2633fs|AKAP9_ENST00000358100.2_Frame_Shift_Del_p.E2645fs			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	2645	Glu-rich.				G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|Sertoli cell development (GO:0060009)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)|synaptic transmission (GO:0007268)|transport (GO:0006810)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|pericentriolar material (GO:0000242)|voltage-gated potassium channel complex (GO:0008076)	ion channel binding (GO:0044325)|protein complex scaffold (GO:0032947)|receptor binding (GO:0005102)			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			GAAATTGCAGAAAAAAATGTT	0.323			T	BRAF	papillary thyroid																																	ENST00000359028.2				Dom	yes		7	7q21-q22	10142	T	A kinase (PRKA) anchor protein (yotiao) 9			E	BRAF		papillary thyroid		0				NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155						c.(7933-7935)gafs		A kinase (PRKA) anchor protein 9							35	39	37					7																	91709345		2185	4289	6474	SO:0001589	frameshift_variant	10142				G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding	g.chr7:91709345delA	AF091711	CCDS5622.1	7q21-q22	2014-09-17	2013-09-25		ENSG00000127914	ENSG00000127914		"A-kinase anchor proteins", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	379	protein-coding gene	gene with protein product	"A-kinase anchoring protein 450", "AKAP9-BRAF fusion protein", "AKAP120-like protein", "centrosome- and golgi-localized protein kinase N-associated protein", "protein kinase A anchoring protein 9", "A-kinase anchor protein, 350kDa", "protein phosphatase 1, regulatory subunit 45", "yotiao"	604001				9482789, 10390370, 24475373	Standard	NM_147185		Approved	KIAA0803, AKAP350, AKAP450, CG-NAP, YOTIAO, HYPERION, PRKA9, MU-RMS-40.16A, PPP1R45, LQT11	uc003ulg.3	Q99996	OTTHUMG00000131127	ENST00000359028.2:c.7934delA	7.37:g.91709345delA	ENSP00000351922:p.Glu2645fs					AKAP9_ENST00000356239.3_Frame_Shift_Del_p.E2633fs|AKAP9_ENST00000358100.2_Frame_Shift_Del_p.E2645fs	p.E2645fs			Q99996	AKAP9_HUMAN	STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)		32	8159	+	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		2645			Glu-rich.		A4D1F0|A4D1F2|A4D1F4|O14869|O43355|O94895|Q75N20|Q9UQH3|Q9UQQ4|Q9Y6B8|Q9Y6Y2	Frame_Shift_Del	DEL	ENST00000359028.2	37	c.7934delA																																																																																					0.323	AKAP9-202	KNOWN	basic	protein_coding	protein_coding		NM_005751		20	36						20	36	---	---	---	---	-	91709345	A	-	91709345	7	5	435	1	0	1	0	1	0	0	0	0	459	246	9	0	8020	0	AKAP9	7	91709345	Frame_Shift_Del	DEL	A	TCGA-XK-AAIW-01A-11D-A41K-08	381	91709345	67429318	3661	24586											
PEX1	5189	broad.mit.edu	37	chr7	92134102	92134102	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgtgctcatgttccgggacaGcaggcagtccagcaatgagg	9	8	14	10	1	1	1	1	1	0	0	3	2	3	2	2	3	3	5	2	3	1	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:92134102G>T	ENST00000248633.4	-	12	2110	c.2015C>A	c.(2014-2016)gCt>gAt	p.A672D	PEX1_ENST00000438045.1_Missense_Mutation_p.A350D|PEX1_ENST00000541751.1_Missense_Mutation_p.A89D|PEX1_ENST00000428214.1_Intron	NM_000466.2	NP_000457.1	O43933	PEX1_HUMAN	peroxisomal biogenesis factor 1	672			Missing (in PBD1A and PBD1B). {ECO:0000269|PubMed:9539740}.		ATP catabolic process (GO:0006200)|microtubule-based peroxisome localization (GO:0060152)|peroxisome organization (GO:0007031)|protein import into peroxisome matrix (GO:0016558)|protein targeting to peroxisome (GO:0006625)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41	all_cancers(62;9.35e-11)|all_epithelial(64;4.59e-10)|Breast(17;0.00201)|all_lung(186;0.0438)|Lung NSC(181;0.0592)	Breast(660;0.000932)|all_neural(109;0.00391)|Myeloproliferative disorder(862;0.0122)|Ovarian(593;0.023)|Medulloblastoma(109;0.123)	GBM - Glioblastoma multiforme(5;4.06e-06)|STAD - Stomach adenocarcinoma(4;4.51e-05)|all cancers(6;5.32e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23)			TTCCGGGACAGCAGGCAGTCC	0.522																																						ENST00000248633.4																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						c.(2014-2016)gCt>gAt		peroxisomal biogenesis factor 1							158	140	146					7																	92134102		2203	4300	6503	SO:0001583	missense	5189				microtubule-based peroxisome localization|protein import into peroxisome matrix	cytosol|nucleus|peroxisomal membrane	ATP binding|ATPase activity, coupled|protein C-terminus binding|protein complex binding	g.chr7:92134102G>T	AF026086	CCDS5627.1, CCDS64710.1	7q21.2	2010-04-21	2008-08-26		ENSG00000127980	ENSG00000127980		"ATPases / AAA-type"	8850	protein-coding gene	gene with protein product		602136	"peroxisome biogenesis factor 1", "Zellweger syndrome 1", "Zellweger syndrome"	ZWS1, ZWS		9398848	Standard	NM_001282677		Approved		uc003uly.3	O43933	OTTHUMG00000023926	ENST00000248633.4:c.2015C>A	7.37:g.92134102G>T	ENSP00000248633:p.Ala672Asp					PEX1_ENST00000428214.1_Intron|PEX1_ENST00000541751.1_Missense_Mutation_p.A89D|PEX1_ENST00000438045.1_Missense_Mutation_p.A350D	p.A672D	NM_000466.2	NP_000457.1	O43933	PEX1_HUMAN	GBM - Glioblastoma multiforme(5;4.06e-06)|STAD - Stomach adenocarcinoma(4;4.51e-05)|all cancers(6;5.32e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23)		12	2110	-	all_cancers(62;9.35e-11)|all_epithelial(64;4.59e-10)|Breast(17;0.00201)|all_lung(186;0.0438)|Lung NSC(181;0.0592)	Breast(660;0.000932)|all_neural(109;0.00391)|Myeloproliferative disorder(862;0.0122)|Ovarian(593;0.023)|Medulloblastoma(109;0.123)	672		Missing (in NALD).			A4D1G3|A8KA90|B4DIM7|E9PE75|Q96S71|Q96S72|Q96S73|Q99994	Missense_Mutation	SNP	ENST00000248633.4	37	c.2015C>A	CCDS5627.1	.	.	.	.	.	.	.	.	.	.	G	16.18	3.049675	0.55218	.	.	ENSG00000127980	ENST00000438045;ENST00000248633;ENST00000541751	D;D;D	0.82081	-1.57;-1.57;-1.57	5.35	2.51	0.30379	ATPase, AAA-type, core (1);ATPase, AAA+ type, core (1);	0.432805	0.29335	N	0.012443	T	0.67915	0.2944	N	0.11698	0.16	0.09310	N	1	B;B	0.32010	0.195;0.351	B;B	0.35182	0.124;0.197	T	0.60052	-0.7338	10	0.52906	T	0.07	-0.8808	7.9101	0.29785	0.1388:0.2577:0.6035:0.0	.	350;672	E9PE75;O43933	.;PEX1_HUMAN	D	350;672;89	ENSP00000410438:A350D;ENSP00000248633:A672D;ENSP00000438637:A89D	ENSP00000248633:A672D	A	-	2	0	PEX1	91972038	0.245000	0.23899	0.001000	0.08648	0.406000	0.30931	3.086000	0.50159	0.367000	0.24454	0.561000	0.74099	GCT		0.522	PEX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254066.3	NM_000466		28	48	1	0	2.48779e-11	1	2.67617e-11	28	48					T	92134102	G	T	92134102	3	4	435	1	0	0	0	0	1	0	0	0	11735	971	34	5	1888	5	PEX1	7	92134102	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	424757	92134102	67004561	3662	24587											
PEX1	5189	broad.mit.edu	37	chr7	92147233	92147233	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggtctcttccataactatgaAgttttttatattcagcatca	11	17	5	8	0	3	1	2	1	1	0	5	1	4	1	1	1	2	2	1	1	5	8			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:92147233A>T	ENST00000248633.4	-	5	691	c.596T>A	c.(595-597)cTt>cAt	p.L199H	PEX1_ENST00000438045.1_Intron|PEX1_ENST00000541751.1_5'Flank|PEX1_ENST00000428214.1_Missense_Mutation_p.L199H	NM_000466.2	NP_000457.1	O43933	PEX1_HUMAN	peroxisomal biogenesis factor 1	199					ATP catabolic process (GO:0006200)|microtubule-based peroxisome localization (GO:0060152)|peroxisome organization (GO:0007031)|protein import into peroxisome matrix (GO:0016558)|protein targeting to peroxisome (GO:0006625)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41	all_cancers(62;9.35e-11)|all_epithelial(64;4.59e-10)|Breast(17;0.00201)|all_lung(186;0.0438)|Lung NSC(181;0.0592)	Breast(660;0.000932)|all_neural(109;0.00391)|Myeloproliferative disorder(862;0.0122)|Ovarian(593;0.023)|Medulloblastoma(109;0.123)	GBM - Glioblastoma multiforme(5;4.06e-06)|STAD - Stomach adenocarcinoma(4;4.51e-05)|all cancers(6;5.32e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23)			ATAACTATGAAGTTTTTTATA	0.383																																						ENST00000248633.4																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						c.(595-597)cTt>cAt		peroxisomal biogenesis factor 1							79	79	79					7																	92147233		2193	4295	6488	SO:0001583	missense	5189				microtubule-based peroxisome localization|protein import into peroxisome matrix	cytosol|nucleus|peroxisomal membrane	ATP binding|ATPase activity, coupled|protein C-terminus binding|protein complex binding	g.chr7:92147233A>T	AF026086	CCDS5627.1, CCDS64710.1	7q21.2	2010-04-21	2008-08-26		ENSG00000127980	ENSG00000127980		"ATPases / AAA-type"	8850	protein-coding gene	gene with protein product		602136	"peroxisome biogenesis factor 1", "Zellweger syndrome 1", "Zellweger syndrome"	ZWS1, ZWS		9398848	Standard	NM_001282677		Approved		uc003uly.3	O43933	OTTHUMG00000023926	ENST00000248633.4:c.596T>A	7.37:g.92147233A>T	ENSP00000248633:p.Leu199His					PEX1_ENST00000428214.1_Missense_Mutation_p.L199H|PEX1_ENST00000438045.1_Intron	p.L199H	NM_000466.2	NP_000457.1	O43933	PEX1_HUMAN	GBM - Glioblastoma multiforme(5;4.06e-06)|STAD - Stomach adenocarcinoma(4;4.51e-05)|all cancers(6;5.32e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23)		5	691	-	all_cancers(62;9.35e-11)|all_epithelial(64;4.59e-10)|Breast(17;0.00201)|all_lung(186;0.0438)|Lung NSC(181;0.0592)	Breast(660;0.000932)|all_neural(109;0.00391)|Myeloproliferative disorder(862;0.0122)|Ovarian(593;0.023)|Medulloblastoma(109;0.123)	199					A4D1G3|A8KA90|B4DIM7|E9PE75|Q96S71|Q96S72|Q96S73|Q99994	Missense_Mutation	SNP	ENST00000248633.4	37	c.596T>A	CCDS5627.1	.	.	.	.	.	.	.	.	.	.	A	1.547	-0.540324	0.04053	.	.	ENSG00000127980	ENST00000248633;ENST00000428214;ENST00000545192	D;D	0.95171	-3.57;-3.63	5.22	2.66	0.31614	.	0.786255	0.11756	N	0.532629	D	0.86703	0.5996	N	0.14661	0.345	0.19775	N	0.999954	B	0.29805	0.257	B	0.27380	0.079	T	0.75852	-0.3171	10	0.30854	T	0.27	-1.0277	7.4801	0.27400	0.795:0.0:0.0704:0.1346	.	199	O43933	PEX1_HUMAN	H	199	ENSP00000248633:L199H;ENSP00000394413:L199H	ENSP00000248633:L199H	L	-	2	0	PEX1	91985169	0.003000	0.15002	0.001000	0.08648	0.009000	0.06853	1.385000	0.34408	0.360000	0.24265	0.454000	0.30748	CTT		0.383	PEX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254066.3	NM_000466		17	21	0	0	0	1	0	17	21					T	92147233	A	T	92147233	3	4	435	1	0	0	0	0	1	0	0	0	11735	72	3	5	3335	5	PEX1	7	92147233	Missense_Mutation	SNP	A	TCGA-XK-AAIW-01A-11D-A41K-08	13131	92147233	66991430	3663	24588											
C7orf64	84060	broad.mit.edu	37	chr7	92163971	92163971	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagaaaccatcataaaacaaTggggcattataaccacaatg	19	8	6	8	0	1	1	1	0	0	1	1	1	1	1	2	2	3	1	2	2	8	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:92163971T>C	ENST00000265732.5	+	4	745	c.704T>C	c.(703-705)aTg>aCg	p.M235T	RBM48_ENST00000481551.1_Missense_Mutation_p.M235T	NM_032120.2	NP_115496.2	Q5RL73	RBM48_HUMAN	RNA binding motif protein 48	235						nucleus (GO:0005634)	RNA binding (GO:0003723)										CATAAAACAATGGGGCATTAT	0.428																																						ENST00000481551.1																			0											c.(703-705)aTg>aCg		RNA binding motif protein 48							112	98	102					7																	92163971		1897	4110	6007	SO:0001583	missense	84060						nucleotide binding	g.chr7:92163971T>C	AL136619	CCDS43615.1	7q21.2	2013-02-12	2011-12-09	2011-12-09	ENSG00000127993	ENSG00000127993		"RNA binding motif (RRM) containing"	21785	protein-coding gene	gene with protein product			"chromosome 7 open reading frame 64"	C7orf64			Standard	NM_032120		Approved	DKFZp564O0523, HSPC304	uc003ulz.3	Q5RL73	OTTHUMG00000159535	ENST00000265732.5:c.704T>C	7.37:g.92163971T>C	ENSP00000265732:p.Met235Thr					RBM48_ENST00000265732.5_Missense_Mutation_p.M235T	p.M235T			Q5RL73	CG064_HUMAN			4	745	+			235					B7Z2K5|B7ZL51|Q5H9T2|Q8IYW7|Q96NS0|Q9H0V7	Missense_Mutation	SNP	ENST00000265732.5	37	c.704T>C	CCDS43615.1	.	.	.	.	.	.	.	.	.	.	T	5.056	0.196021	0.09599	.	.	ENSG00000127993	ENST00000265732;ENST00000481551;ENST00000450580	.	.	.	5.19	0.0465	0.14256	.	1.953000	0.01750	N	0.029843	T	0.33000	0.0848	L	0.48362	1.52	0.09310	N	1	B;B	0.15473	0.005;0.013	B;B	0.14023	0.007;0.01	T	0.04579	-1.0941	9	0.24483	T	0.36	-6.2564	0.9592	0.01392	0.1571:0.2959:0.1631:0.3839	.	235;235	B7Z2K5;Q5RL73	.;CG064_HUMAN	T	235	.	ENSP00000265732:M235T	M	+	2	0	C7orf64	92001907	0.000000	0.05858	0.000000	0.03702	0.038000	0.13279	0.116000	0.15561	-0.123000	0.11745	0.482000	0.46254	ATG		0.428	RBM48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356076.1	NM_032120		21	34	0	0	0	1	0	21	34					C	92163971	T	C	92163971	3	2	435	1	0	0	0	0	1	0	0	0	2410	1464	51	4	718	4	C7orf64	7	92163971	Missense_Mutation	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	16738	92163971	66974692	3664	24589											
SAMD9L	219285	broad.mit.edu	37	chr7	92763742	92763742	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctttctctctgccataaatGtggttctagaggtttatatg	8	18	8	7	0	4	1	0	0	4	1	5	1	4	1	1	2	1	2	1	2	5	7			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:92763742G>A	ENST00000318238.4	-	5	2759	c.1543C>T	c.(1543-1545)Cat>Tat	p.H515Y	SAMD9L_ENST00000437805.1_Missense_Mutation_p.H515Y|SAMD9L_ENST00000411955.1_Missense_Mutation_p.H515Y	NM_152703.2	NP_689916.2	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like	515					common myeloid progenitor cell proliferation (GO:0035726)|endosomal vesicle fusion (GO:0034058)|hematopoietic progenitor cell differentiation (GO:0002244)|regulation of protein catabolic process (GO:0042176)|spleen development (GO:0048536)|stem cell division (GO:0017145)	early endosome (GO:0005769)				central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			TGCCATAAATGTGGTTCTAGA	0.373																																						ENST00000318238.4																			0				central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88						c.(1543-1545)Cat>Tat		sterile alpha motif domain containing 9-like							76	81	79					7																	92763742		2203	4300	6503	SO:0001583	missense	219285							g.chr7:92763742G>A	AB095926	CCDS34681.1	7q21.2	2013-01-10		2005-04-26	ENSG00000177409	ENSG00000177409		"Sterile alpha motif (SAM) domain containing"	1349	protein-coding gene	gene with protein product		611170	"chromosome 7 open reading frame 6"	C7orf6			Standard	NM_152703		Approved	KIAA2005, FLJ39885	uc003umh.1	Q8IVG5	OTTHUMG00000155807	ENST00000318238.4:c.1543C>T	7.37:g.92763742G>A	ENSP00000326247:p.His515Tyr					SAMD9L_ENST00000437805.1_Missense_Mutation_p.H515Y|SAMD9L_ENST00000411955.1_Missense_Mutation_p.H515Y	p.H515Y	NM_152703.2	NP_689916.2	Q8IVG5	SAM9L_HUMAN	STAD - Stomach adenocarcinoma(171;0.000302)		5	2759	-	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		515					A0JP23|A0JP24|A0PJG8|A4D1G8|D6W5Q6|Q2TV71|Q2TV75|Q2UZV8|Q8IWI4|Q8N3L9|Q8N875	Missense_Mutation	SNP	ENST00000318238.4	37	c.1543C>T	CCDS34681.1	.	.	.	.	.	.	.	.	.	.	G	0.060	-1.226061	0.01518	.	.	ENSG00000177409	ENST00000318238;ENST00000411955;ENST00000437805	T;T;T	0.09723	2.95;2.95;2.95	4.59	1.58	0.23477	.	0.598969	0.15708	N	0.248576	T	0.06735	0.0172	L	0.51422	1.61	0.09310	N	1	P	0.42296	0.775	B	0.37198	0.243	T	0.13442	-1.0509	10	0.07644	T	0.81	-15.1448	3.1187	0.06383	0.0905:0.1293:0.3156:0.4646	.	515	Q8IVG5	SAM9L_HUMAN	Y	515	ENSP00000326247:H515Y;ENSP00000405760:H515Y;ENSP00000408796:H515Y	ENSP00000326247:H515Y	H	-	1	0	SAMD9L	92601678	0.000000	0.05858	0.413000	0.26509	0.409000	0.31022	-0.369000	0.07533	1.123000	0.41961	0.460000	0.39030	CAT		0.373	SAMD9L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341730.1	NM_152703		40	41	0	0	0	1	0	40	41					A	92763742	G	A	92763742	3	1	435	1	0	0	0	0	1	0	0	0	13827	1377	48	3	3215	3	SAMD9L	7	92763742	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	599771	92763742	66374921	3665	24590											
HEPACAM2	253012	broad.mit.edu	37	chr7	92848481	92848481	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccctgaatgttgaccttcacGatgtaattgccttcatcagg	9	13	8	11	1	3	2	3	2	0	0	3	3	3	2	3	1	1	2	3	1	2	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:92848481G>A	ENST00000394468.2	-	2	440	c.363C>T	c.(361-363)atC>atT	p.I121I	HEPACAM2_ENST00000440868.1_Silent_p.I109I|HEPACAM2_ENST00000341723.4_Silent_p.I109I|HEPACAM2_ENST00000453812.2_Silent_p.I144I	NM_001039372.1	NP_001034461.1	A8MVW5	HECA2_HUMAN	HEPACAM family member 2	121					centrosome organization (GO:0051297)|mitotic nuclear division (GO:0007067)	centrosome (GO:0005813)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|midbody (GO:0030496)|spindle (GO:0005819)				breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(4)|skin(1)	28						TGACCTTCACGATGTAATTGC	0.483																																						ENST00000394468.2																			0				breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(4)|skin(1)	28						c.(361-363)atC>atT		HEPACAM family member 2							143	117	126					7																	92848481		2203	4300	6503	SO:0001819	synonymous_variant	253012					integral to membrane		g.chr7:92848481G>A	AK096002	CCDS5629.1, CCDS43616.1, CCDS75631.1, CCDS75632.1	7q21.3	2013-01-29	2008-07-11		ENSG00000188175	ENSG00000188175		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	27364	protein-coding gene	gene with protein product		614133				12975309	Standard	NM_001288804		Approved	FLJ38683	uc003umm.3	A8MVW5	OTTHUMG00000131732	ENST00000394468.2:c.363C>T	7.37:g.92848481G>A						HEPACAM2_ENST00000453812.2_Silent_p.I144I|HEPACAM2_ENST00000440868.1_Silent_p.I109I|HEPACAM2_ENST00000341723.4_Silent_p.I109I	p.I121I	NM_001039372.1	NP_001034461.1	A8MVW5	HECA2_HUMAN			2	440	-			121					B3KTT4|B4DPJ1|B9EG93|E9PDV5|Q6UXI0	Silent	SNP	ENST00000394468.2	37	c.363C>T	CCDS43616.1																																																																																				0.483	HEPACAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254651.1	NM_198151		19	46	0	0	0	1	0	19	46					A	92848481	G	A	92848481	2	1	435	1	0	0	0	0	0	0	0	1	7053	1048	37	2		2	HEPACAM2	7	92848481	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	84739	92848481	66290182	3666	24591											
HEPACAM2	253012	broad.mit.edu	37	chr7	92848530	92848530	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtgggttgataagcagagatGcattgggtggcatcatggtg	9	11	17	4	0	1	2	1	1	0	1	1	3	1	2	0	4	2	4	0	4	1	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:92848530G>A	ENST00000394468.2	-	2	391	c.314C>T	c.(313-315)gCa>gTa	p.A105V	HEPACAM2_ENST00000440868.1_Missense_Mutation_p.A93V|HEPACAM2_ENST00000341723.4_Missense_Mutation_p.A93V|HEPACAM2_ENST00000453812.2_Missense_Mutation_p.A128V	NM_001039372.1	NP_001034461.1	A8MVW5	HECA2_HUMAN	HEPACAM family member 2	105					centrosome organization (GO:0051297)|mitotic nuclear division (GO:0007067)	centrosome (GO:0005813)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|midbody (GO:0030496)|spindle (GO:0005819)				breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(4)|skin(1)	28						AAGCAGAGATGCATTGGGTGG	0.458																																						ENST00000394468.2																			0				breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(4)|skin(1)	28						c.(313-315)gCa>gTa		HEPACAM family member 2							157	138	144					7																	92848530		2203	4300	6503	SO:0001583	missense	253012					integral to membrane		g.chr7:92848530G>A	AK096002	CCDS5629.1, CCDS43616.1, CCDS75631.1, CCDS75632.1	7q21.3	2013-01-29	2008-07-11		ENSG00000188175	ENSG00000188175		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	27364	protein-coding gene	gene with protein product		614133				12975309	Standard	NM_001288804		Approved	FLJ38683	uc003umm.3	A8MVW5	OTTHUMG00000131732	ENST00000394468.2:c.314C>T	7.37:g.92848530G>A	ENSP00000377980:p.Ala105Val					HEPACAM2_ENST00000453812.2_Missense_Mutation_p.A128V|HEPACAM2_ENST00000440868.1_Missense_Mutation_p.A93V|HEPACAM2_ENST00000341723.4_Missense_Mutation_p.A93V	p.A105V	NM_001039372.1	NP_001034461.1	A8MVW5	HECA2_HUMAN			2	391	-			105					B3KTT4|B4DPJ1|B9EG93|E9PDV5|Q6UXI0	Missense_Mutation	SNP	ENST00000394468.2	37	c.314C>T	CCDS43616.1	.	.	.	.	.	.	.	.	.	.	G	19.31	3.802930	0.70682	.	.	ENSG00000188175	ENST00000394468;ENST00000341723;ENST00000440868;ENST00000453812	T;T;T;T	0.64803	-0.12;-0.12;-0.12;-0.12	5.72	5.72	0.89469	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like fold (1);	0.102434	0.64402	D	0.000003	T	0.55986	0.1955	L	0.27053	0.805	0.46416	D	0.999035	P;P;P;P	0.49447	0.924;0.775;0.924;0.778	B;B;B;B	0.43701	0.402;0.428;0.38;0.262	T	0.55186	-0.8180	10	0.38643	T	0.18	-20.5258	20.269	0.98464	0.0:0.0:1.0:0.0	.	128;93;105;93	E9PDV5;C9JN07;A8MVW5;A8MVW5-2	.;.;HECA2_HUMAN;.	V	105;93;93;128	ENSP00000377980:A105V;ENSP00000340532:A93V;ENSP00000389592:A93V;ENSP00000390204:A128V	ENSP00000340532:A93V	A	-	2	0	HEPACAM2	92686466	1.000000	0.71417	0.976000	0.42696	0.799000	0.45148	5.652000	0.67959	2.878000	0.98634	0.650000	0.86243	GCA		0.458	HEPACAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254651.1	NM_198151		4	53	0	0	0	1	0	4	53					A	92848530	G	A	92848530	3	1	435	1	0	0	0	0	1	0	0	0	7053	1319	46	3	1110	3	HEPACAM2	7	92848530	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	49	92848530	66290133	3667	24592											
CCDC132	55610	broad.mit.edu	37	chr7	92935164	92935164	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttaaattcatggaacagtctCgctccccatcagtttcacct	10	13	5	13	1	4	0	3	0	1	0	6	1	5	1	3	1	1	2	3	1	3	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:92935164C>T	ENST00000305866.5	+	18	1605	c.1477C>T	c.(1477-1479)Cgc>Tgc	p.R493C	CCDC132_ENST00000544910.1_Missense_Mutation_p.R463C|CCDC132_ENST00000317751.6_Missense_Mutation_p.R224C|CCDC132_ENST00000535481.1_Missense_Mutation_p.R213C|CCDC132_ENST00000541136.1_Missense_Mutation_p.R304C	NM_017667.3	NP_060137.2	Q96JG6	CC132_HUMAN	coiled-coil domain containing 132	493						extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)				endometrium(1)|large_intestine(2)|lung(5)	8	all_cancers(62;2.64e-11)|all_epithelial(64;1.4e-10)|Breast(17;0.000675)|Lung NSC(181;0.0618)|all_lung(186;0.0837)		STAD - Stomach adenocarcinoma(171;0.000302)			GGAACAGTCTCGCTCCCCATC	0.378																																						ENST00000544910.1																			0				endometrium(1)|large_intestine(2)|lung(5)	8						c.(1387-1389)Cgc>Tgc		coiled-coil domain containing 132							91	84	86					7																	92935164		1859	4096	5955	SO:0001583	missense	55610							g.chr7:92935164C>T	AL833112, AK055965, AL832393	CCDS5630.1, CCDS43617.1, CCDS59065.1	7q21.3	2007-07-23			ENSG00000004766	ENSG00000004766			25956	protein-coding gene	gene with protein product						11347906	Standard	NM_024553		Approved	KIAA1861, FLJ20097, DKFZp313I2429	uc003umo.4	Q96JG6	OTTHUMG00000131733	ENST00000305866.5:c.1477C>T	7.37:g.92935164C>T	ENSP00000307666:p.Arg493Cys					CCDC132_ENST00000541136.1_Missense_Mutation_p.R304C|CCDC132_ENST00000535481.1_Missense_Mutation_p.R213C|CCDC132_ENST00000317751.6_Missense_Mutation_p.R224C|CCDC132_ENST00000305866.5_Missense_Mutation_p.R493C	p.R463C	NM_001257998.1	NP_001244927.1	Q96JG6	CC132_HUMAN	STAD - Stomach adenocarcinoma(171;0.000302)		19	1607	+	all_cancers(62;2.64e-11)|all_epithelial(64;1.4e-10)|Breast(17;0.000675)|Lung NSC(181;0.0618)|all_lung(186;0.0837)		493					B3KX22|D1MQ00|F5H5U7|Q75N07|Q8WVK3|Q9H5C6	Missense_Mutation	SNP	ENST00000305866.5	37	c.1387C>T	CCDS43617.1	.	.	.	.	.	.	.	.	.	.	C	33	5.215140	0.95104	.	.	ENSG00000004766	ENST00000305866;ENST00000544910;ENST00000541136;ENST00000535481;ENST00000317751	T	0.49139	0.79	5.6	5.6	0.85130	.	0.000000	0.85682	D	0.000000	T	0.66607	0.2806	L	0.53249	1.67	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.79108	0.982;0.992;0.982	T	0.65438	-0.6168	10	0.56958	D	0.05	-12.6323	19.9947	0.97381	0.0:1.0:0.0:0.0	.	213;463;493	B4DS55;F5H5U7;Q96JG6	.;.;CC132_HUMAN	C	493;463;304;213;224	ENSP00000325582:R224C	ENSP00000307666:R493C	R	+	1	0	CCDC132	92773100	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	5.441000	0.66569	2.794000	0.96219	0.650000	0.86243	CGC		0.378	CCDC132-019	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341687.1	NM_017667		25	32	0	0	0	1	0	25	32					T	92935164	C	T	92935164	3	4	435	1	0	0	0	0	1	0	0	0	2767	884	31	2	1589	2	CCDC132	7	92935164	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	86634	92935164	66203499	3668	24593											
CCDC132	55610	broad.mit.edu	37	chr7	92970798	92970798	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagaaagaaaggagaaggtGccaagtccacacctcagtca	17	4	11	9	0	2	3	2	0	0	3	3	5	3	3	3	2	1	0	3	2	5	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:92970798G>A	ENST00000305866.5	+	23	2246	c.2118G>A	c.(2116-2118)gtG>gtA	p.V706V	CCDC132_ENST00000544910.1_Silent_p.V676V|CCDC132_ENST00000474412.1_3'UTR|CCDC132_ENST00000535481.1_Silent_p.V426V|CCDC132_ENST00000541136.1_Silent_p.V517V	NM_017667.3	NP_060137.2	Q96JG6	CC132_HUMAN	coiled-coil domain containing 132	706						extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)				endometrium(1)|large_intestine(2)|lung(5)	8	all_cancers(62;2.64e-11)|all_epithelial(64;1.4e-10)|Breast(17;0.000675)|Lung NSC(181;0.0618)|all_lung(186;0.0837)		STAD - Stomach adenocarcinoma(171;0.000302)			AGGAGAAGGTGCCAAGTCCAC	0.448																																						ENST00000544910.1																			0				endometrium(1)|large_intestine(2)|lung(5)	8						c.(2026-2028)gtG>gtA		coiled-coil domain containing 132							130	137	135					7																	92970798		1993	4172	6165	SO:0001819	synonymous_variant	55610							g.chr7:92970798G>A	AL833112, AK055965, AL832393	CCDS5630.1, CCDS43617.1, CCDS59065.1	7q21.3	2007-07-23			ENSG00000004766	ENSG00000004766			25956	protein-coding gene	gene with protein product						11347906	Standard	NM_024553		Approved	KIAA1861, FLJ20097, DKFZp313I2429	uc003umo.4	Q96JG6	OTTHUMG00000131733	ENST00000305866.5:c.2118G>A	7.37:g.92970798G>A						CCDC132_ENST00000541136.1_Silent_p.V517V|CCDC132_ENST00000535481.1_Silent_p.V426V|CCDC132_ENST00000305866.5_Silent_p.V706V|CCDC132_ENST00000474412.1_3'UTR	p.V676V	NM_001257998.1	NP_001244927.1	Q96JG6	CC132_HUMAN	STAD - Stomach adenocarcinoma(171;0.000302)		24	2248	+	all_cancers(62;2.64e-11)|all_epithelial(64;1.4e-10)|Breast(17;0.000675)|Lung NSC(181;0.0618)|all_lung(186;0.0837)		706					B3KX22|D1MQ00|F5H5U7|Q75N07|Q8WVK3|Q9H5C6	Silent	SNP	ENST00000305866.5	37	c.2028G>A	CCDS43617.1																																																																																				0.448	CCDC132-019	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341687.1	NM_017667		7	44	0	0	0	1	0	7	44					A	92970798	G	A	92970798	2	1	435	1	0	0	0	0	0	0	0	1	2767	1306	46	3		3	CCDC132	7	92970798	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	35634	92970798	66167865	3669	24594											
CALCR	799	broad.mit.edu	37	chr7	93073027	93073027	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	catccagaaatagttgcaggCcatcatgtactggtggaaaa	14	9	10	8	0	1	1	1	0	0	1	2	2	2	2	2	3	2	3	2	3	5	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:93073027C>T	ENST00000394441.1	-	8	1006	c.691G>A	c.(691-693)Gcc>Acc	p.A231T	CALCR_ENST00000426151.1_Missense_Mutation_p.A231T|CALCR_ENST00000359558.2_Missense_Mutation_p.A265T|CALCR_ENST00000421592.1_Missense_Mutation_p.A247T|CALCR_ENST00000360249.4_Missense_Mutation_p.A247T	NM_001164738.1	NP_001158210.1	P30988	CALCR_HUMAN	calcitonin receptor	265					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|protein localization to plasma membrane (GO:0072659)|protein transport (GO:0015031)|receptor internalization (GO:0031623)|response to glucocorticoid (GO:0051384)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcitonin binding (GO:0032841)|calcitonin receptor activity (GO:0004948)|protein transporter activity (GO:0008565)|receptor activity (GO:0004872)	p.A231P(1)|p.A265P(1)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(3)	45	all_cancers(62;3.18e-12)|all_epithelial(64;1.34e-11)|Breast(17;0.000675)|Lung NSC(181;0.207)		STAD - Stomach adenocarcinoma(171;0.000244)		Pramlintide(DB01278)|Salmon Calcitonin(DB00017)	TAGTTGCAGGCCATCATGTAC	0.443																																						ENST00000359558.2																			2	Substitution - Missense(2)	p.A231P(1)|p.A265P(1)	large_intestine(2)	NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(3)	45						c.(793-795)Gcc>Acc		calcitonin receptor	Salmon Calcitonin(DB00017)						136	126	130					7																	93073027		2203	4300	6503	SO:0001583	missense	799				activation of adenylate cyclase activity by G-protein signaling pathway|elevation of cytosolic calcium ion concentration|positive regulation of adenylate cyclase activity|response to glucocorticoid stimulus	integral to plasma membrane	calcitonin binding|calcitonin receptor activity|protein binding	g.chr7:93073027C>T	L00587	CCDS5631.1, CCDS55125.1	7q21.3	2012-08-10			ENSG00000004948	ENSG00000004948		"GPCR / Class B : Calcitonin receptors"	1440	protein-coding gene	gene with protein product		114131				1331173	Standard	NM_001742		Approved	CTR	uc003umw.2	P30988	OTTHUMG00000023599	ENST00000394441.1:c.691G>A	7.37:g.93073027C>T	ENSP00000377959:p.Ala231Thr					CALCR_ENST00000421592.1_Missense_Mutation_p.A247T|CALCR_ENST00000426151.1_Missense_Mutation_p.A231T|CALCR_ENST00000360249.4_Missense_Mutation_p.A247T|CALCR_ENST00000394441.1_Missense_Mutation_p.A231T	p.A265T	NM_001164737.1	NP_001158209.1	P30988	CALCR_HUMAN	STAD - Stomach adenocarcinoma(171;0.000244)		11	1092	-	all_cancers(62;3.18e-12)|all_epithelial(64;1.34e-11)|Breast(17;0.000675)|Lung NSC(181;0.207)		247					A4D1G6|F5H605|O14585|Q13941|Q5ZGL8|Q659U6|Q6DJU8|Q6T712	Missense_Mutation	SNP	ENST00000394441.1	37	c.793G>A	CCDS5631.1	.	.	.	.	.	.	.	.	.	.	C	9.336	1.061789	0.19987	.	.	ENSG00000004948	ENST00000359558;ENST00000360249;ENST00000421592;ENST00000394441;ENST00000426151	T;T;T;T;T	0.45276	0.9;0.9;0.9;0.9;0.9	4.94	-5.07	0.02938	.	.	.	.	.	T	0.22859	0.0552	N	0.03983	-0.305	0.28679	N	0.905198	B;B	0.18166	0.026;0.002	B;B	0.16289	0.015;0.007	T	0.03555	-1.1025	9	0.51188	T	0.08	.	20.1708	0.98159	0.778:0.222:0.0:0.0	.	265;231	F5H605;A4D1G6	.;.	T	265;247;247;231;231	ENSP00000352561:A265T;ENSP00000353385:A247T;ENSP00000399552:A247T;ENSP00000377959:A231T;ENSP00000389295:A231T	ENSP00000352561:A265T	A	-	1	0	CALCR	92910963	0.999000	0.42202	0.209000	0.23619	0.967000	0.64934	0.900000	0.28431	-1.144000	0.02862	-1.404000	0.01136	GCC		0.443	CALCR-002	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254661.2	NM_001742		24	41	0	0	0	1	0	24	41					T	93073027	C	T	93073027	3	4	435	1	0	0	0	0	1	0	0	0	2579	739	26	3	757	3	CALCR	7	93073027	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	102229	93073027	66065636	3670	24595											
COL1A2	1278	broad.mit.edu	37	chr7	94039099	94039099	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cggtattcctggccctgttgGtgctgccggtgctactggtg	2	13	15	11	2	0	0	0	0	0	0	1	0	1	0	3	5	4	4	3	5	2	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:94039099G>A	ENST00000297268.6	+	19	1472	c.1001G>A	c.(1000-1002)gGt>gAt	p.G334D		NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	collagen, type I, alpha 2	334			G -> C (in OI2).		blood coagulation (GO:0007596)|blood vessel development (GO:0001568)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|leukocyte migration (GO:0050900)|odontogenesis (GO:0042476)|platelet activation (GO:0030168)|protein heterotrimerization (GO:0070208)|regulation of blood pressure (GO:0008217)|Rho protein signal transduction (GO:0007266)|skeletal system development (GO:0001501)|skin morphogenesis (GO:0043589)|transforming growth factor beta receptor signaling pathway (GO:0007179)	collagen type I trimer (GO:0005584)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	extracellular matrix structural constituent (GO:0005201)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|protein binding, bridging (GO:0030674)		COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	GGCCCTGTTGGTGCTGCCGGT	0.567										HNSCC(75;0.22)																												ENST00000297268.6																		COL1A2/PLAG1(3)	0				NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115						c.(1000-1002)gGt>gAt		collagen, type I, alpha 2	Collagenase(DB00048)						108	103	105					7																	94039099		2203	4300	6503	SO:0001583	missense	1278				axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging	g.chr7:94039099G>A	Z74616	CCDS34682.1	7q21.3	2014-09-17	2002-02-13		ENSG00000164692	ENSG00000164692		"Collagens"	2198	protein-coding gene	gene with protein product	"alpha 2(I)-collagen", "alpha-2 collagen type I", "type I procollagen", "collagen I, alpha-2 polypeptide", "collagen of skin, tendon and bone, alpha-2 chain"	120160	"osteogenesis imperfecta type IV"	OI4		3857213, 2897363	Standard	NM_000089		Approved		uc003ung.1	P08123	OTTHUMG00000148675	ENST00000297268.6:c.1001G>A	7.37:g.94039099G>A	ENSP00000297268:p.Gly334Asp	HNSCC(75;0.22)					p.G334D	NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	STAD - Stomach adenocarcinoma(171;0.0031)		19	1472	+	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		334		G -> C (in OI2A).			P02464|Q13897|Q13997|Q13998|Q14038|Q14057|Q15177|Q15947|Q16480|Q16511|Q7Z5S6|Q9UEB6|Q9UEF9|Q9UM83|Q9UMI1|Q9UML5|Q9UMM6|Q9UPH0	Missense_Mutation	SNP	ENST00000297268.6	37	c.1001G>A	CCDS34682.1	.	.	.	.	.	.	.	.	.	.	G	20.5	3.995449	0.74703	.	.	ENSG00000164692	ENST00000297268;ENST00000545487	D	0.99176	-5.52	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	D	0.99667	0.9876	H	0.98769	4.325	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.97427	1.0013	10	0.87932	D	0	.	19.966	0.97266	0.0:0.0:1.0:0.0	.	334	P08123	CO1A2_HUMAN	D	334;335	ENSP00000297268:G334D	ENSP00000297268:G334D	G	+	2	0	COL1A2	93877035	1.000000	0.71417	0.996000	0.52242	0.530000	0.34684	9.411000	0.97342	2.802000	0.96397	0.655000	0.94253	GGT		0.567	COL1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309045.2	NM_000089		10	20	0	0	0	1	0	10	20					A	94039099	G	A	94039099	3	1	435	1	0	0	0	0	1	0	0	0	3678	1261	44	3	1075	3	COL1A2	7	94039099	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	966072	94039099	65099564	3671	24596											
COL1A2	1278	broad.mit.edu	37	chr7	94050332	94050332	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcatttagggtccaaatggTccccccggtcctgctggaag	7	10	12	12	1	0	0	0	0	0	0	3	1	3	1	5	4	2	2	5	4	3	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:94050332T>C	ENST00000297268.6	+	38	2778	c.2307T>C	c.(2305-2307)ggT>ggC	p.G769G		NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	collagen, type I, alpha 2	769			Missing (in OI2). {ECO:0000269|PubMed:1339453}.		blood coagulation (GO:0007596)|blood vessel development (GO:0001568)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|leukocyte migration (GO:0050900)|odontogenesis (GO:0042476)|platelet activation (GO:0030168)|protein heterotrimerization (GO:0070208)|regulation of blood pressure (GO:0008217)|Rho protein signal transduction (GO:0007266)|skeletal system development (GO:0001501)|skin morphogenesis (GO:0043589)|transforming growth factor beta receptor signaling pathway (GO:0007179)	collagen type I trimer (GO:0005584)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	extracellular matrix structural constituent (GO:0005201)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|protein binding, bridging (GO:0030674)		COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	GTCCAAATGGTCCCCCCGGTC	0.453										HNSCC(75;0.22)																												ENST00000297268.6																		COL1A2/PLAG1(3)	0				NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115						c.(2305-2307)ggT>ggC		collagen, type I, alpha 2	Collagenase(DB00048)						152	141	144					7																	94050332		2203	4300	6503	SO:0001819	synonymous_variant	1278				axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging	g.chr7:94050332T>C	Z74616	CCDS34682.1	7q21.3	2014-09-17	2002-02-13		ENSG00000164692	ENSG00000164692		"Collagens"	2198	protein-coding gene	gene with protein product	"alpha 2(I)-collagen", "alpha-2 collagen type I", "type I procollagen", "collagen I, alpha-2 polypeptide", "collagen of skin, tendon and bone, alpha-2 chain"	120160	"osteogenesis imperfecta type IV"	OI4		3857213, 2897363	Standard	NM_000089		Approved		uc003ung.1	P08123	OTTHUMG00000148675	ENST00000297268.6:c.2307T>C	7.37:g.94050332T>C		HNSCC(75;0.22)					p.G769G	NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	STAD - Stomach adenocarcinoma(171;0.0031)		38	2778	+	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		769		Missing (in OI2A).			P02464|Q13897|Q13997|Q13998|Q14038|Q14057|Q15177|Q15947|Q16480|Q16511|Q7Z5S6|Q9UEB6|Q9UEF9|Q9UM83|Q9UMI1|Q9UML5|Q9UMM6|Q9UPH0	Silent	SNP	ENST00000297268.6	37	c.2307T>C	CCDS34682.1																																																																																				0.453	COL1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309045.2	NM_000089		14	35	0	0	0	1	0	14	35					C	94050332	T	C	94050332	2	2	435	1	0	0	0	0	0	0	0	1	3678	1654	58	4		4	COL1A2	7	94050332	Silent	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	11233	94050332	65088331	3672	24597											
PPP1R9A	55607	broad.mit.edu	37	chr7	94750100	94750100	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cttgaaaagctgggaatattCgtcaagacagtaacagaagg	16	8	11	6	1	1	3	1	1	0	2	2	4	1	4	0	2	2	2	0	2	7	4	rs12216695		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:94750100C>T	ENST00000433881.1	+	4	2137	c.1605C>T	c.(1603-1605)ttC>ttT	p.F535F	PPP1R9A_ENST00000340694.4_Silent_p.F535F|PPP1R9A_ENST00000456331.2_Silent_p.F535F|PPP1R9A_ENST00000424654.1_Silent_p.F535F|PPP1R9A_ENST00000433360.1_Silent_p.F535F|PPP1R9A_ENST00000289495.5_Silent_p.F535F			Q9ULJ8	NEB1_HUMAN	protein phosphatase 1, regulatory subunit 9A	535	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				actin filament organization (GO:0007015)|calcium-mediated signaling (GO:0019722)|neuron projection development (GO:0031175)	cell junction (GO:0030054)|cortical actin cytoskeleton (GO:0030864)|dendritic spine (GO:0043197)|filopodium (GO:0030175)|growth cone (GO:0030426)|synapse (GO:0045202)				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(11)|liver(2)|lung(22)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(8)|urinary_tract(5)	71	all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09)		STAD - Stomach adenocarcinoma(171;0.0031)			TGGGAATATTCGTCAAGACAG	0.398										HNSCC(28;0.073)																												ENST00000289495.5																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(11)|liver(2)|lung(22)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(8)|urinary_tract(5)	71						c.(1603-1605)ttC>ttT		protein phosphatase 1, regulatory subunit 9A							158	152	154					7																	94750100		2203	4300	6503	SO:0001819	synonymous_variant	55607					cell junction|synapse|synaptosome	actin binding	g.chr7:94750100C>T	AB033048	CCDS34683.1, CCDS55127.1, CCDS55128.1	7q21.3	2013-01-10	2011-10-04		ENSG00000158528	ENSG00000158528		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "Sterile alpha motif (SAM) domain containing"	14946	protein-coding gene	gene with protein product		602468	"protein phosphatase 1, regulatory (inhibitor) subunit 9A"			10574462	Standard	NM_001166160		Approved	Neurabin-I, KIAA1222, FLJ20068	uc010lfj.3	Q9ULJ8	OTTHUMG00000155566	ENST00000433881.1:c.1605C>T	7.37:g.94750100C>T		HNSCC(28;0.073)				PPP1R9A_ENST00000340694.4_Silent_p.F535F|PPP1R9A_ENST00000456331.2_Silent_p.F535F|PPP1R9A_ENST00000424654.1_Silent_p.F535F|PPP1R9A_ENST00000433881.1_Silent_p.F535F|PPP1R9A_ENST00000433360.1_Silent_p.F535F	p.F535F	NM_001166161.1	NP_001159633.1	Q9ULJ8	NEB1_HUMAN	STAD - Stomach adenocarcinoma(171;0.0031)		3	1821	+	all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09)		535			PDZ.		A1L494|B2RWQ1|E9PCA0|E9PCK6|E9PDX1|F8W7J9|O76059|Q9NXT2	Silent	SNP	ENST00000433881.1	37	c.1605C>T	CCDS34683.1																																																																																				0.398	PPP1R9A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340662.1	NM_001166160		42	66	0	0	0	1	0	42	66					T	94750100	C	T	94750100	2	4	435	1	0	0	0	0	0	0	0	1	12378	883	31	2		2	PPP1R9A	7	94750100	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	699768	94750100	64388563	3673	24598											
PPP1R9A	55607	broad.mit.edu	37	chr7	94855316	94855316	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agaagaagatgaggtaggacCtgtccttcctggcagcgaca	12	7	13	9	1	0	4	0	1	0	3	2	6	2	5	3	3	1	2	3	3	3	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:94855316C>A	ENST00000433881.1	+	7	2466	c.1934C>A	c.(1933-1935)cCt>cAt	p.P645H	PPP1R9A_ENST00000340694.4_Missense_Mutation_p.P645H|PPP1R9A_ENST00000456331.2_Missense_Mutation_p.P645H|PPP1R9A_ENST00000424654.1_Missense_Mutation_p.P645H|PPP1R9A_ENST00000433360.1_Missense_Mutation_p.P667H|PPP1R9A_ENST00000289495.5_Missense_Mutation_p.P645H			Q9ULJ8	NEB1_HUMAN	protein phosphatase 1, regulatory subunit 9A	645	Interacts with TGN38. {ECO:0000250}.				actin filament organization (GO:0007015)|calcium-mediated signaling (GO:0019722)|neuron projection development (GO:0031175)	cell junction (GO:0030054)|cortical actin cytoskeleton (GO:0030864)|dendritic spine (GO:0043197)|filopodium (GO:0030175)|growth cone (GO:0030426)|synapse (GO:0045202)				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(11)|liver(2)|lung(22)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(8)|urinary_tract(5)	71	all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09)		STAD - Stomach adenocarcinoma(171;0.0031)			GAGGTAGGACCTGTCCTTCCT	0.498										HNSCC(28;0.073)																												ENST00000289495.5																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(11)|liver(2)|lung(22)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(8)|urinary_tract(5)	71						c.(1933-1935)cCt>cAt		protein phosphatase 1, regulatory subunit 9A							131	111	118					7																	94855316		2203	4300	6503	SO:0001583	missense	55607					cell junction|synapse|synaptosome	actin binding	g.chr7:94855316C>A	AB033048	CCDS34683.1, CCDS55127.1, CCDS55128.1	7q21.3	2013-01-10	2011-10-04		ENSG00000158528	ENSG00000158528		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "Sterile alpha motif (SAM) domain containing"	14946	protein-coding gene	gene with protein product		602468	"protein phosphatase 1, regulatory (inhibitor) subunit 9A"			10574462	Standard	NM_001166160		Approved	Neurabin-I, KIAA1222, FLJ20068	uc010lfj.3	Q9ULJ8	OTTHUMG00000155566	ENST00000433881.1:c.1934C>A	7.37:g.94855316C>A	ENSP00000398870:p.Pro645His	HNSCC(28;0.073)				PPP1R9A_ENST00000340694.4_Missense_Mutation_p.P645H|PPP1R9A_ENST00000456331.2_Missense_Mutation_p.P645H|PPP1R9A_ENST00000424654.1_Missense_Mutation_p.P645H|PPP1R9A_ENST00000433881.1_Missense_Mutation_p.P645H|PPP1R9A_ENST00000433360.1_Missense_Mutation_p.P667H	p.P645H	NM_001166161.1	NP_001159633.1	Q9ULJ8	NEB1_HUMAN	STAD - Stomach adenocarcinoma(171;0.0031)		6	2150	+	all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09)		645			Interacts with TGN38 (By similarity).		A1L494|B2RWQ1|E9PCA0|E9PCK6|E9PDX1|F8W7J9|O76059|Q9NXT2	Missense_Mutation	SNP	ENST00000433881.1	37	c.1934C>A	CCDS34683.1	.	.	.	.	.	.	.	.	.	.	C	12.96	2.095929	0.36952	.	.	ENSG00000158528	ENST00000433360;ENST00000340694;ENST00000424654;ENST00000433881;ENST00000289495;ENST00000456331	T;T;T;T;T;T	0.16073	2.39;2.4;2.38;2.4;2.37;2.38	5.12	5.12	0.69794	.	0.168440	0.52532	D	0.000063	T	0.39462	0.1079	L	0.54323	1.7	0.47341	D	0.999397	D;D;D;D;D	0.89917	0.994;0.997;0.998;1.0;0.997	D;D;D;D;P	0.74023	0.912;0.975;0.982;0.98;0.783	T	0.07751	-1.0756	10	0.72032	D	0.01	.	19.1381	0.93436	0.0:1.0:0.0:0.0	.	645;645;667;645;645	B7ZLX4;F8W7J9;E9PDX1;E9PCK6;Q9ULJ8	.;.;.;.;NEB1_HUMAN	H	667;645;645;645;645;645	ENSP00000405514:P667H;ENSP00000344524:P645H;ENSP00000411342:P645H;ENSP00000398870:P645H;ENSP00000289495:P645H;ENSP00000402893:P645H	ENSP00000289495:P645H	P	+	2	0	PPP1R9A	94693252	0.999000	0.42202	0.368000	0.25939	0.108000	0.19459	4.812000	0.62613	2.836000	0.97738	0.655000	0.94253	CCT		0.498	PPP1R9A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340662.1	NM_001166160		16	29	1	0	2.23348e-06	1	2.32236e-06	16	29					A	94855316	C	A	94855316	3	1	435	1	0	0	0	0	1	0	0	0	12378	681	24	5	2026	5	PPP1R9A	7	94855316	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	105216	94855316	64283347	3674	24599											
SLC25A13	10165	broad.mit.edu	37	chr7	95775911	95775911	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggtcccgcacgacagacagaGcactgactcgaggaccagtg	11	4	13	13	3	0	3	0	1	0	2	2	6	1	4	2	2	1	2	2	2	0	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:95775911G>T	ENST00000265631.5	-	14	1545	c.1409C>A	c.(1408-1410)gCt>gAt	p.A470D	SLC25A13_ENST00000542654.1_Missense_Mutation_p.A362D|SLC25A13_ENST00000416240.2_Missense_Mutation_p.A471D			Q9UJS0	CMC2_HUMAN	solute carrier family 25 (aspartate/glutamate carrier), member 13	470					aspartate transport (GO:0015810)|ATP biosynthetic process (GO:0006754)|carbohydrate metabolic process (GO:0005975)|cellular respiration (GO:0045333)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|L-glutamate transport (GO:0015813)|malate-aspartate shuttle (GO:0043490)|response to calcium ion (GO:0051592)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)|L-aspartate transmembrane transporter activity (GO:0015183)|L-glutamate transmembrane transporter activity (GO:0005313)|transporter activity (GO:0005215)			breast(4)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(8)|liver(2)|lung(14)|prostate(1)|skin(4)	42	all_cancers(62;7.75e-08)|all_epithelial(64;1.16e-07)		STAD - Stomach adenocarcinoma(171;0.194)		L-Aspartic Acid(DB00128)	GACAGACAGAGCACTGACTCG	0.433																																						ENST00000416240.2																			0				breast(4)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(8)|liver(2)|lung(14)|prostate(1)|skin(4)	42						c.(1411-1413)gCt>gAt		solute carrier family 25 (aspartate/glutamate carrier), member 13	L-Aspartic Acid(DB00128)						123	141	135					7																	95775911		2203	4300	6503	SO:0001583	missense	10165				ATP biosynthetic process|gluconeogenesis|malate-aspartate shuttle|response to calcium ion	integral to plasma membrane|mitochondrial inner membrane	calcium ion binding|L-aspartate transmembrane transporter activity|L-glutamate transmembrane transporter activity	g.chr7:95775911G>T	AF118838	CCDS5645.1, CCDS55130.1	7q21.3	2013-05-22	2012-03-29		ENSG00000004864	ENSG00000004864		"Solute carriers", "EF-hand domain containing"	10983	protein-coding gene	gene with protein product	"mitochondrial aspartate glutamate carrier 2"	603859	"solute carrier family 25, member 13 (citrin)"	CTLN2		10369257	Standard	NM_014251		Approved	CITRIN, ARALAR2	uc003uog.4	Q9UJS0	OTTHUMG00000023074	ENST00000265631.5:c.1409C>A	7.37:g.95775911G>T	ENSP00000265631:p.Ala470Asp					SLC25A13_ENST00000542654.1_Missense_Mutation_p.A362D|SLC25A13_ENST00000265631.5_Missense_Mutation_p.A470D	p.A471D	NM_001160210.1|NM_014251.2	NP_001153682.1|NP_055066.1	Q9UJS0	CMC2_HUMAN	STAD - Stomach adenocarcinoma(171;0.194)		14	1602	-	all_cancers(62;7.75e-08)|all_epithelial(64;1.16e-07)		470					O14566|O14575|Q546F9|Q9NZW1|Q9UNI7	Missense_Mutation	SNP	ENST00000265631.5	37	c.1412C>A	CCDS5645.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.990786	0.74589	.	.	ENSG00000004864	ENST00000265631;ENST00000416240;ENST00000542654	T;T;T	0.79845	-1.31;-1.31;-1.31	4.63	4.63	0.57726	Mitochondrial carrier domain (2);	0.000000	0.85682	D	0.000000	D	0.93344	0.7878	H	0.96805	3.885	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.998;0.999;0.999	D	0.95491	0.8569	10	0.87932	D	0	-14.0578	18.0706	0.89405	0.0:0.0:1.0:0.0	.	362;471;470	F5GX33;Q546F9;Q9UJS0	.;.;CMC2_HUMAN	D	470;471;362	ENSP00000265631:A470D;ENSP00000400101:A471D;ENSP00000440484:A362D	ENSP00000265631:A470D	A	-	2	0	SLC25A13	95613847	1.000000	0.71417	0.944000	0.38274	0.222000	0.24845	9.657000	0.98554	2.575000	0.86900	0.655000	0.94253	GCT		0.433	SLC25A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059395.2	NM_014251		54	80	1	0	3.07002e-29	1	3.43787e-29	54	80					T	95775911	G	T	95775911	3	4	435	1	0	0	0	0	1	0	0	0	14475	971	34	5	638	5	SLC25A13	7	95775911	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	920595	95775911	63362752	3675	24600											
ACN9	57001	broad.mit.edu	37	chr7	96747188	96747188	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttggttctgacgaggcacaGcgtttcttgcaagaatggga	9	11	14	7	2	2	2	0	1	2	1	2	4	2	3	0	3	2	5	0	3	2	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:96747188G>T	ENST00000360382.4	+	1	154	c.153G>T	c.(151-153)caG>caT	p.Q51H	ACN9_ENST00000432641.2_Missense_Mutation_p.Q51H					ACN9 homolog (S. cerevisiae)											large_intestine(1)|lung(4)|ovary(1)|skin(1)|urinary_tract(3)	10	all_cancers(62;2.54e-08)|all_epithelial(64;2.24e-08)|Esophageal squamous(72;0.00507)|all_lung(186;0.154)|Lung NSC(181;0.159)					ACGAGGCACAGCGTTTCTTGC	0.552																																						ENST00000432641.2																			0				large_intestine(1)|lung(4)|ovary(1)|skin(1)|urinary_tract(3)	10						c.(151-153)caG>caT		ACN9 homolog (S. cerevisiae)							121	106	111					7																	96747188		2203	4300	6503	SO:0001583	missense	57001				regulation of gluconeogenesis	mitochondrial intermembrane space		g.chr7:96747188G>T	BC028409	CCDS5648.1	7q22.1	2006-02-09			ENSG00000196636	ENSG00000196636			21752	protein-coding gene	gene with protein product		615773					Standard	NM_020186		Approved	DC11	uc003uoo.4	Q9NRP4	OTTHUMG00000154064	ENST00000360382.4:c.153G>T	7.37:g.96747188G>T	ENSP00000353548:p.Gln51His					ACN9_ENST00000360382.4_Missense_Mutation_p.Q51H	p.Q51H	NM_020186.2	NP_064571.1	Q9NRP4	ACN9_HUMAN			1	1287	+	all_cancers(62;2.54e-08)|all_epithelial(64;2.24e-08)|Esophageal squamous(72;0.00507)|all_lung(186;0.154)|Lung NSC(181;0.159)		51						Missense_Mutation	SNP	ENST00000360382.4	37	c.153G>T		.	.	.	.	.	.	.	.	.	.	G	19.70	3.877086	0.72180	.	.	ENSG00000196636	ENST00000432641;ENST00000360382	.	.	.	4.97	4.09	0.47781	.	0.524987	0.19898	N	0.103587	T	0.64216	0.2578	M	0.70275	2.135	0.43824	D	0.99639	P	0.42941	0.794	P	0.49140	0.601	T	0.65018	-0.6270	9	0.45353	T	0.12	-3.5179	11.0192	0.47707	0.0882:0.0:0.9118:0.0	.	51	Q9NRP4	ACN9_HUMAN	H	51	.	ENSP00000353548:Q51H	Q	+	3	2	ACN9	96585124	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	2.364000	0.44187	1.472000	0.48140	0.655000	0.94253	CAG		0.552	ACN9-002	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000333686.3	NM_020186		33	31	1	0	1.02151e-06	1	1.06508e-06	33	31					T	96747188	G	T	96747188	3	4	435	1	0	0	0	0	1	0	0	0	145	962	34	5	155	5	ACN9	7	96747188	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	971277	96747188	62391475	3676	24601											
ACN9	57001	broad.mit.edu	37	chr7	96810494	96810494	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acaaaacccaataggcaattTagtatttctgagtctatgaa	16	12	6	7	0	2	2	0	2	2	0	2	2	2	2	1	1	1	2	1	1	9	6			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:96810494T>C	ENST00000432641.2	+	2	1479	c.345T>C	c.(343-345)ttT>ttC	p.F115F	ACN9_ENST00000479853.1_3'UTR|ACN9_ENST00000360382.4_3'UTR	NM_020186.2	NP_064571.1			ACN9 homolog (S. cerevisiae)											large_intestine(1)|lung(4)|ovary(1)|skin(1)|urinary_tract(3)	10	all_cancers(62;2.54e-08)|all_epithelial(64;2.24e-08)|Esophageal squamous(72;0.00507)|all_lung(186;0.154)|Lung NSC(181;0.159)					ATAGGCAATTTAGTATTTCTG	0.358																																						ENST00000432641.2																			0				large_intestine(1)|lung(4)|ovary(1)|skin(1)|urinary_tract(3)	10						c.(343-345)ttT>ttC		ACN9 homolog (S. cerevisiae)							46	49	48					7																	96810494		2202	4300	6502	SO:0001819	synonymous_variant	57001				regulation of gluconeogenesis	mitochondrial intermembrane space		g.chr7:96810494T>C	BC028409	CCDS5648.1	7q22.1	2006-02-09			ENSG00000196636	ENSG00000196636			21752	protein-coding gene	gene with protein product		615773					Standard	NM_020186		Approved	DC11	uc003uoo.4	Q9NRP4	OTTHUMG00000154064	ENST00000432641.2:c.345T>C	7.37:g.96810494T>C						ACN9_ENST00000479853.1_3'UTR|ACN9_ENST00000360382.4_3'UTR	p.F115F	NM_020186.2	NP_064571.1	Q9NRP4	ACN9_HUMAN			2	1479	+	all_cancers(62;2.54e-08)|all_epithelial(64;2.24e-08)|Esophageal squamous(72;0.00507)|all_lung(186;0.154)|Lung NSC(181;0.159)		115						Silent	SNP	ENST00000432641.2	37	c.345T>C	CCDS5648.1																																																																																				0.358	ACN9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333685.3	NM_020186		9	21	0	0	0	1	0	9	21					C	96810494	T	C	96810494	2	2	435	1	0	0	0	0	0	0	0	1	145	1751	61	4		4	ACN9	7	96810494	Silent	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	63306	96810494	62328169	3677	24602											
TAC1	6863	broad.mit.edu	37	chr7	97363108	97363108	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	caagcctcagcagttctttgGattaatgggcaaacgggatg	11	10	12	8	1	2	0	1	0	1	0	2	2	2	2	1	3	3	3	1	3	3	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:97363108G>A	ENST00000319273.5	+	3	494	c.197G>A	c.(196-198)gGa>gAa	p.G66E	TAC1_ENST00000350485.4_Missense_Mutation_p.G66E|TAC1_ENST00000346867.4_Missense_Mutation_p.G66E	NM_003182.2	NP_003173.1	P20366	TKN1_HUMAN	tachykinin, precursor 1	66					associative learning (GO:0008306)|cell-cell signaling (GO:0007267)|detection of abiotic stimulus (GO:0009582)|inflammatory response (GO:0006954)|insemination (GO:0007320)|long-term memory (GO:0007616)|negative regulation of heart rate (GO:0010459)|neuropeptide signaling pathway (GO:0007218)|positive regulation of action potential (GO:0045760)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of corticosterone secretion (GO:2000854)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of lymphocyte proliferation (GO:0050671)|positive regulation of ossification (GO:0045778)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of saliva secretion (GO:0046878)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of synaptic transmission, cholinergic (GO:0032224)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|regulation of blood pressure (GO:0008217)|response to hormone (GO:0009725)|response to lipopolysaccharide (GO:0032496)|response to morphine (GO:0043278)|response to pain (GO:0048265)|sensory perception of pain (GO:0019233)|synaptic transmission (GO:0007268)|tachykinin receptor signaling pathway (GO:0007217)	axon (GO:0030424)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)				large_intestine(4)|lung(6)|urinary_tract(1)	11	all_cancers(62;3.95e-09)|all_epithelial(64;1.1e-09)|Esophageal squamous(72;0.00448)|Lung NSC(181;0.0358)|all_lung(186;0.0384)					CAGTTCTTTGGATTAATGGGC	0.587																																						ENST00000319273.5																			0				large_intestine(4)|lung(6)|urinary_tract(1)	11						c.(196-198)gGa>gAa		tachykinin, precursor 1	Bacitracin(DB00626)						95	84	88					7																	97363108		2203	4300	6503	SO:0001583	missense	6863				detection of abiotic stimulus|elevation of cytosolic calcium ion concentration|insemination|neuropeptide signaling pathway|synaptic transmission|tachykinin receptor signaling pathway	extracellular space		g.chr7:97363108G>A	M68907	CCDS5649.1, CCDS5650.1, CCDS5651.1	7q21-q22	2013-02-26	2008-01-17		ENSG00000006128	ENSG00000006128		"Endogenous ligands"	11517	protein-coding gene	gene with protein product	"substance K", "substance P", "neurokinin 1", "neurokinin 2", "neuromedin L", "neurokinin alpha", "neuropeptide K", "neuropeptide gamma", "preprotachykinin"	162320	"tachykinin, precursor 1 (substance K, substance P, neurokinin 1, neurokinin 2, neuromedin L, neurokinin alpha, neuropeptide K, neuropeptide gamma)"	TAC2, NKNA		1708336	Standard	NM_003182		Approved	NPK	uc003uop.4	P20366	OTTHUMG00000154069	ENST00000319273.5:c.197G>A	7.37:g.97363108G>A	ENSP00000321106:p.Gly66Glu					TAC1_ENST00000350485.4_Missense_Mutation_p.G66E|TAC1_ENST00000346867.4_Missense_Mutation_p.G66E	p.G66E	NM_003182.2	NP_003173.1	P20366	TKN1_HUMAN			3	494	+	all_cancers(62;3.95e-09)|all_epithelial(64;1.1e-09)|Esophageal squamous(72;0.00448)|Lung NSC(181;0.0358)|all_lung(186;0.0384)		66					O60600|O60601|Q00072|Q53GH4|Q549V0|Q549V1|Q549V2|Q6FHM1	Missense_Mutation	SNP	ENST00000319273.5	37	c.197G>A	CCDS5649.1	.	.	.	.	.	.	.	.	.	.	G	25.6	4.650649	0.87958	.	.	ENSG00000006128	ENST00000319273;ENST00000350485;ENST00000346867	.	.	.	5.26	5.26	0.73747	Tachykinin/Neurokinin-like, conserved site (1);Tachykinin (1);	0.000000	0.85682	D	0.000000	T	0.77280	0.4107	M	0.64404	1.975	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.998;1.0;0.999;0.999	T	0.79174	-0.1912	9	0.87932	D	0	-14.4924	16.7358	0.85446	0.0:0.0:1.0:0.0	.	66;66;66;66	P20366-4;P20366-3;P20366-2;P20366	.;.;.;TKN1_HUMAN	E	66	.	ENSP00000321106:G66E	G	+	2	0	TAC1	97201044	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.284000	0.72652	2.626000	0.88956	0.561000	0.74099	GGA		0.587	TAC1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333696.1	NM_003182		35	60	0	0	0	1	0	35	60					A	97363108	G	A	97363108	3	1	435	1	0	0	0	0	1	0	0	0	15495	1174	41	3	203	3	TAC1	7	97363108	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	552614	97363108	61775555	3678	24603											
LMTK2	22853	broad.mit.edu	37	chr7	97821546	97821546	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctgaactgtcccagctcaCggcgctcaggagcgttgaac	8	7	11	15	3	2	2	2	2	0	0	3	3	3	3	2	2	4	3	2	2	2	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:97821546C>T	ENST00000297293.5	+	11	2062	c.1769C>T	c.(1768-1770)aCg>aTg	p.T590M		NM_014916.3	NP_055731.2	Q8IWU2	LMTK2_HUMAN	lemur tyrosine kinase 2	590					early endosome to late endosome transport (GO:0045022)|endocytic recycling (GO:0032456)|negative regulation of catalytic activity (GO:0043086)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|receptor recycling (GO:0001881)|transferrin transport (GO:0033572)	early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)	ATP binding (GO:0005524)|myosin VI binding (GO:0070853)|protein phosphatase inhibitor activity (GO:0004864)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3)	59	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)					TCCCAGCTCACGGCGCTCAGG	0.512																																						ENST00000297293.5																			0				NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3)	59						c.(1768-1770)aCg>aTg		lemur tyrosine kinase 2							53	52	52					7																	97821546		2203	4300	6503	SO:0001583	missense	22853				early endosome to late endosome transport|endocytic recycling|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation|receptor recycling|transferrin transport	early endosome|Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|recycling endosome	ATP binding|myosin VI binding|protein phosphatase inhibitor activity|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr7:97821546C>T	AB029002	CCDS5654.1	7q22.1	2014-06-12			ENSG00000164715	ENSG00000164715			17880	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 100"	610989				15005709	Standard	NM_014916		Approved	KIAA1079, KPI2, KPI-2, cprk, LMR2, BREK, AATYK2, PPP1R100	uc003upd.2	Q8IWU2	OTTHUMG00000154256	ENST00000297293.5:c.1769C>T	7.37:g.97821546C>T	ENSP00000297293:p.Thr590Met						p.T590M	NM_014916.3	NP_055731.2	Q8IWU2	LMTK2_HUMAN			11	2062	+	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)		590					A4D272|Q75MG7|Q9UPS3	Missense_Mutation	SNP	ENST00000297293.5	37	c.1769C>T	CCDS5654.1	.	.	.	.	.	.	.	.	.	.	C	9.333	1.060971	0.19987	.	.	ENSG00000164715	ENST00000297293	T	0.76839	-1.05	6.09	0.211	0.15236	.	1.049210	0.07368	N	0.885278	T	0.50205	0.1602	N	0.02011	-0.69	0.09310	N	1	B	0.17852	0.024	B	0.04013	0.001	T	0.37361	-0.9709	10	0.39692	T	0.17	.	5.6854	0.17801	0.1286:0.3842:0.0:0.4871	.	590	Q8IWU2	LMTK2_HUMAN	M	590	ENSP00000297293:T590M	ENSP00000297293:T590M	T	+	2	0	LMTK2	97659482	0.016000	0.18221	0.000000	0.03702	0.001000	0.01503	0.955000	0.29188	0.015000	0.14971	-0.140000	0.14226	ACG		0.512	LMTK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334560.1	NM_014916		4	31	0	0	0	1	0	4	31					T	97821546	C	T	97821546	3	4	435	1	0	0	0	0	1	0	0	0	8859	536	19	1	1811	1	LMTK2	7	97821546	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	458438	97821546	61317117	3679	24604											
TECPR1	25851	broad.mit.edu	37	chr7	97852477	97852477	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcccactggtcaccagcttgCattttctgtacagtggagag	8	11	11	11	0	2	1	1	0	1	1	2	2	2	1	2	2	3	3	2	2	1	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:97852477C>T	ENST00000447648.2	-	21	3052	c.2753G>A	c.(2752-2754)tGc>tAc	p.C918Y	TECPR1_ENST00000379795.3_Missense_Mutation_p.C920Y|TECPR1_ENST00000479975.1_5'UTR			Q7Z6L1	TCPR1_HUMAN	tectonin beta-propeller repeat containing 1	918					autophagic vacuole fusion (GO:0000046)|autophagy (GO:0006914)	autophagic vacuole membrane (GO:0000421)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	phosphatidylinositol-3-phosphate binding (GO:0032266)			central_nervous_system(2)|endometrium(8)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						CACCAGCTTGCATTTTCTGTA	0.667																																						ENST00000447648.2																			0				central_nervous_system(2)|endometrium(8)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						c.(2752-2754)tGc>tAc		tectonin beta-propeller repeat containing 1							20	26	24					7																	97852477		1984	4152	6136	SO:0001583	missense	25851					integral to membrane	protein binding	g.chr7:97852477C>T		CCDS47648.1	7q21.3	2009-01-30			ENSG00000205356	ENSG00000205356			22214	protein-coding gene	gene with protein product		614781					Standard	NM_015395		Approved	DKFZP434B0335, FLJ23419, FLJ90593, KIAA1358	uc003upg.4	Q7Z6L1	OTTHUMG00000154273	ENST00000447648.2:c.2753G>A	7.37:g.97852477C>T	ENSP00000404923:p.Cys918Tyr					TECPR1_ENST00000379795.3_Missense_Mutation_p.C920Y|TECPR1_ENST00000479975.1_5'UTR	p.C918Y			Q7Z6L1	TCPR1_HUMAN			21	3052	-			918					A8KAD1|B3KPZ1|C9J024|F5GX57|Q96EB0|Q9P2I9|Q9UFR6	Missense_Mutation	SNP	ENST00000447648.2	37	c.2753G>A	CCDS47648.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.389830	0.82902	.	.	ENSG00000205356	ENST00000447648;ENST00000379795	T;T	0.35048	1.34;1.33	4.91	4.91	0.64330	Ferlin/Peroxisome membrane (1);	0.046649	0.85682	D	0.000000	T	0.56775	0.2008	M	0.68593	2.085	0.80722	D	1	D	0.76494	0.999	P	0.62740	0.906	T	0.59413	-0.7459	10	0.59425	D	0.04	-44.2797	17.2685	0.87093	0.0:1.0:0.0:0.0	.	918	Q7Z6L1	TCPR1_HUMAN	Y	918;920	ENSP00000404923:C918Y;ENSP00000369121:C920Y	ENSP00000369121:C920Y	C	-	2	0	TECPR1	97690413	1.000000	0.71417	0.998000	0.56505	0.772000	0.43724	7.109000	0.77062	2.561000	0.86390	0.561000	0.74099	TGC		0.667	TECPR1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000334661.1	NM_015395		5	2	0	0	0	1	0	5	2					T	97852477	C	T	97852477	3	4	435	1	0	0	0	0	1	0	0	0	15740	710	25	3	768	3	TECPR1	7	97852477	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	30931	97852477	61286186	3680	24605											
BAIAP2L1	55971	broad.mit.edu	37	chr7	97933678	97933678	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacggtgctgatgcttctcaCtggtgtggggctcaaaccca	7	10	12	12	1	2	1	2	1	1	0	3	1	2	1	1	4	3	3	1	4	1	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:97933678C>T	ENST00000005260.8	-	12	1467	c.1252G>A	c.(1252-1254)Gtg>Atg	p.V418M		NM_018842.4	NP_061330.2	Q9UHR4	BI2L1_HUMAN	BAI1-associated protein 2-like 1	418					filopodium assembly (GO:0046847)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of actin filament polymerization (GO:0030838)|response to bacterium (GO:0009617)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	proline-rich region binding (GO:0070064)			NS(1)|breast(1)|cervix(1)|endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)	23	all_cancers(62;4.34e-10)|all_epithelial(64;5e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0113)|all_lung(186;0.0126)		STAD - Stomach adenocarcinoma(171;0.215)			ATGCTTCTCACTGGTGTGGGG	0.527																																						ENST00000005260.8																			0				NS(1)|breast(1)|cervix(1)|endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)	23						c.(1252-1254)Gtg>Atg		BAI1-associated protein 2-like 1							98	82	88					7																	97933678		2203	4300	6503	SO:0001583	missense	55971				filopodium assembly|positive regulation of actin cytoskeleton reorganization|positive regulation of actin filament polymerization|response to bacterium|signal transduction	cell junction|cytoskeleton|cytosol|nucleus	actin binding|cytoskeletal adaptor activity|proline-rich region binding|SH3 domain binding	g.chr7:97933678C>T	AF119666	CCDS34687.1	7q22.1	2012-10-04			ENSG00000006453	ENSG00000006453			21649	protein-coding gene	gene with protein product		611877					Standard	NM_018842		Approved	IRTKS	uc003upj.3	Q9UHR4	OTTHUMG00000165117	ENST00000005260.8:c.1252G>A	7.37:g.97933678C>T	ENSP00000005260:p.Val418Met						p.V418M	NM_018842.4	NP_061330.2	Q9UHR4	BI2L1_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)		12	1467	-	all_cancers(62;4.34e-10)|all_epithelial(64;5e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0113)|all_lung(186;0.0126)		418					A4D268|Q75L21|Q75L22|Q96CV4|Q9H5F5|Q9Y2M8	Missense_Mutation	SNP	ENST00000005260.8	37	c.1252G>A	CCDS34687.1	.	.	.	.	.	.	.	.	.	.	C	5.846	0.340319	0.11069	.	.	ENSG00000006453	ENST00000005260	T	0.22539	1.95	5.75	3.96	0.45880	.	0.513155	0.22624	N	0.057664	T	0.29524	0.0736	L	0.51422	1.61	0.29806	N	0.832004	D	0.59767	0.986	P	0.55667	0.781	T	0.07888	-1.0749	10	0.34782	T	0.22	-22.7531	9.4553	0.38751	0.0:0.8371:0.0:0.1629	.	418	Q9UHR4	BI2L1_HUMAN	M	418	ENSP00000005260:V418M	ENSP00000005260:V418M	V	-	1	0	AC093799.1	97771614	0.008000	0.16893	0.158000	0.22627	0.056000	0.15407	0.203000	0.17315	1.434000	0.47414	-0.133000	0.14855	GTG		0.527	BAIAP2L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334681.1	NM_018842		12	13	0	0	0	1	0	12	13					T	97933678	C	T	97933678	3	4	435	1	0	0	0	0	1	0	0	0	1302	565	20	3	295	3	BAIAP2L1	7	97933678	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	81201	97933678	61204985	3681	24606											
TRRAP	8295	broad.mit.edu	37	chr7	98519495	98519495	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gagtcgcagaagctgcactaCgttgtgaccgaggttcaggg	9	8	15	9	3	1	2	1	1	0	1	2	4	1	2	1	2	3	5	1	2	2	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:98519495C>T	ENST00000359863.4	+	21	2951	c.2742C>T	c.(2740-2742)taC>taT	p.Y914Y	TRRAP_ENST00000446306.3_Silent_p.Y913Y|TRRAP_ENST00000355540.3_Silent_p.Y914Y	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	914					chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone deubiquitination (GO:0016578)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|mitotic cell cycle checkpoint (GO:0007093)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PCAF complex (GO:0000125)|STAGA complex (GO:0030914)|Swr1 complex (GO:0000812)|transcription factor TFTC complex (GO:0033276)	phosphotransferase activity, alcohol group as acceptor (GO:0016773)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			AGCTGCACTACGTTGTGACCG	0.557																																						ENST00000359863.4																			0				NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176						c.(2740-2742)taC>taT		transformation/transcription domain-associated protein							171	139	150					7																	98519495		2203	4300	6503	SO:0001819	synonymous_variant	8295				histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity	g.chr7:98519495C>T	AF076974	CCDS5659.1, CCDS59066.1	7q21.2-q22.1	2010-06-22			ENSG00000196367	ENSG00000196367			12347	protein-coding gene	gene with protein product		603015				9708738, 9885574	Standard	NM_003496		Approved	TR-AP, PAF400, Tra1	uc003upp.3	Q9Y4A5	OTTHUMG00000150403	ENST00000359863.4:c.2742C>T	7.37:g.98519495C>T						TRRAP_ENST00000355540.3_Silent_p.Y914Y|TRRAP_ENST00000446306.3_Silent_p.Y913Y	p.Y914Y	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)		21	2951	+	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		914					A4D265|O75218|Q9Y631|Q9Y6H4	Silent	SNP	ENST00000359863.4	37	c.2742C>T	CCDS59066.1	.	.	.	.	.	.	.	.	.	.	C	8.751	0.921276	0.17982	.	.	ENSG00000196367	ENST00000456197	.	.	.	5.94	-5.37	0.02681	.	.	.	.	.	T	0.63733	0.2536	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.65606	-0.6127	4	.	.	.	.	15.654	0.77118	0.0:0.568:0.0:0.432	.	.	.	.	M	629	.	.	T	+	2	0	TRRAP	98357431	0.019000	0.18553	0.919000	0.36401	0.868000	0.49771	-0.870000	0.04228	-0.870000	0.04047	-0.455000	0.05494	ACG		0.557	TRRAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317978.1	NM_003496		26	48	0	0	0	1	0	26	48					T	98519495	C	T	98519495	2	4	435	1	0	0	0	0	0	0	0	1	16598	547	19	1		1	TRRAP	7	98519495	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	585817	98519495	60619168	3682	24607											
TRRAP	8295	broad.mit.edu	37	chr7	98558974	98558974	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctccagtccccagccatcCtcagtagcttcaaacctctg	8	10	5	18	0	3	0	2	0	1	0	7	0	7	0	7	0	3	2	7	0	2	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:98558974C>A	ENST00000359863.4	+	45	6768	c.6559C>A	c.(6559-6561)Ctc>Atc	p.L2187I	TRRAP_ENST00000446306.3_Missense_Mutation_p.L2168I|TRRAP_ENST00000355540.3_Missense_Mutation_p.L2169I	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	2187	Interaction with TP53.				chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone deubiquitination (GO:0016578)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|mitotic cell cycle checkpoint (GO:0007093)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PCAF complex (GO:0000125)|STAGA complex (GO:0030914)|Swr1 complex (GO:0000812)|transcription factor TFTC complex (GO:0033276)	phosphotransferase activity, alcohol group as acceptor (GO:0016773)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			CCCAGCCATCCTCAGTAGCTT	0.552																																						ENST00000359863.4																			0				NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176						c.(6559-6561)Ctc>Atc		transformation/transcription domain-associated protein							137	130	132					7																	98558974		2203	4300	6503	SO:0001583	missense	8295				histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity	g.chr7:98558974C>A	AF076974	CCDS5659.1, CCDS59066.1	7q21.2-q22.1	2010-06-22			ENSG00000196367	ENSG00000196367			12347	protein-coding gene	gene with protein product		603015				9708738, 9885574	Standard	NM_003496		Approved	TR-AP, PAF400, Tra1	uc003upp.3	Q9Y4A5	OTTHUMG00000150403	ENST00000359863.4:c.6559C>A	7.37:g.98558974C>A	ENSP00000352925:p.Leu2187Ile					TRRAP_ENST00000355540.3_Missense_Mutation_p.L2169I|TRRAP_ENST00000446306.3_Missense_Mutation_p.L2168I	p.L2187I	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)		45	6768	+	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		2187			Interaction with TP53.		A4D265|O75218|Q9Y631|Q9Y6H4	Missense_Mutation	SNP	ENST00000359863.4	37	c.6559C>A	CCDS59066.1	.	.	.	.	.	.	.	.	.	.	C	18.06	3.540264	0.65085	.	.	ENSG00000196367	ENST00000359863;ENST00000355540;ENST00000446306	T;T	0.66280	-0.2;-0.2	5.28	5.28	0.74379	Armadillo-like helical (1);	0.000000	0.85682	D	0.000000	T	0.64757	0.2627	L	0.49350	1.555	0.80722	D	1	P;B;P	0.45474	0.859;0.257;0.618	P;B;B	0.46253	0.509;0.077;0.222	T	0.63166	-0.6698	10	0.35671	T	0.21	.	19.2552	0.93943	0.0:1.0:0.0:0.0	.	2169;1908;2187	Q9Y4A5-2;Q59FH1;Q9Y4A5	.;.;TRRAP_HUMAN	I	2187;2169;2167	ENSP00000352925:L2187I;ENSP00000347733:L2169I	ENSP00000347733:L2169I	L	+	1	0	TRRAP	98396910	1.000000	0.71417	1.000000	0.80357	0.477000	0.33069	4.819000	0.62664	2.615000	0.88500	0.655000	0.94253	CTC		0.552	TRRAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317978.1	NM_003496		37	41	1	0	2.32173e-10	1	2.48086e-10	37	41					A	98558974	C	A	98558974	3	1	435	1	0	0	0	0	1	0	0	0	16598	681	24	5	6675	5	TRRAP	7	98558974	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	39479	98558974	60579689	3683	24608											
TRRAP	8295	broad.mit.edu	37	chr7	98565172	98565172	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctgcctttctctctgggctgCgctgtgcccagccactcatc	3	12	9	17	1	3	0	1	0	2	0	5	0	3	0	3	1	4	2	3	1	0	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:98565172C>T	ENST00000359863.4	+	50	7551	c.7342C>T	c.(7342-7344)Cgc>Tgc	p.R2448C	TRRAP_ENST00000446306.3_Missense_Mutation_p.R2430C|TRRAP_ENST00000355540.3_Missense_Mutation_p.R2430C	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	2448					chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone deubiquitination (GO:0016578)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|mitotic cell cycle checkpoint (GO:0007093)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PCAF complex (GO:0000125)|STAGA complex (GO:0030914)|Swr1 complex (GO:0000812)|transcription factor TFTC complex (GO:0033276)	phosphotransferase activity, alcohol group as acceptor (GO:0016773)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			CTCTGGGCTGCGCTGTGCCCA	0.542																																						ENST00000359863.4																			0				NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176						c.(7342-7344)Cgc>Tgc		transformation/transcription domain-associated protein							81	73	76					7																	98565172		2203	4300	6503	SO:0001583	missense	8295				histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity	g.chr7:98565172C>T	AF076974	CCDS5659.1, CCDS59066.1	7q21.2-q22.1	2010-06-22			ENSG00000196367	ENSG00000196367			12347	protein-coding gene	gene with protein product		603015				9708738, 9885574	Standard	NM_003496		Approved	TR-AP, PAF400, Tra1	uc003upp.3	Q9Y4A5	OTTHUMG00000150403	ENST00000359863.4:c.7342C>T	7.37:g.98565172C>T	ENSP00000352925:p.Arg2448Cys					TRRAP_ENST00000355540.3_Missense_Mutation_p.R2430C|TRRAP_ENST00000446306.3_Missense_Mutation_p.R2430C	p.R2448C	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)		50	7551	+	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		2448					A4D265|O75218|Q9Y631|Q9Y6H4	Missense_Mutation	SNP	ENST00000359863.4	37	c.7342C>T	CCDS59066.1	.	.	.	.	.	.	.	.	.	.	C	23.7	4.443112	0.83993	.	.	ENSG00000196367	ENST00000359863;ENST00000355540;ENST00000446306	T;T	0.04603	3.59;3.6	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.22859	0.0552	M	0.71206	2.165	0.80722	D	1	D;P;P	0.89917	1.0;0.855;0.928	D;B;B	0.71414	0.973;0.108;0.146	T	0.00002	-1.2624	10	0.49607	T	0.09	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	2430;2169;2448	Q9Y4A5-2;Q59FH1;Q9Y4A5	.;.;TRRAP_HUMAN	C	2448;2430;2429	ENSP00000352925:R2448C;ENSP00000347733:R2430C	ENSP00000347733:R2430C	R	+	1	0	TRRAP	98403108	1.000000	0.71417	0.998000	0.56505	0.865000	0.49528	7.818000	0.86416	2.941000	0.99782	0.655000	0.94253	CGC		0.542	TRRAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317978.1	NM_003496		27	44	0	0	0	1	0	27	44					T	98565172	C	T	98565172	3	4	435	1	0	0	0	0	1	0	0	0	16598	768	27	1	7478	1	TRRAP	7	98565172	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	6198	98565172	60573491	3684	24609											
SMURF1	57154	broad.mit.edu	37	chr7	98633252	98633252	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcttgccagaaccaccgcaCgatgttgctgtcggccacac	8	7	10	16	4	0	1	0	0	0	1	1	2	0	1	4	1	3	4	4	1	1	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:98633252C>T	ENST00000361125.1	-	17	2294	c.1975G>A	c.(1975-1977)Gtg>Atg	p.V659M	SMURF1_ENST00000361368.2_Missense_Mutation_p.V633M|AC004893.11_ENST00000468960.2_RNA|AC004893.11_ENST00000360902.1_RNA	NM_020429.2	NP_065162.1	Q9HCE7	SMUF1_HUMAN	SMAD specific E3 ubiquitin protein ligase 1	659	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				BMP signaling pathway (GO:0030509)|cell differentiation (GO:0030154)|ectoderm development (GO:0007398)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of ossification (GO:0030279)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein export from nucleus (GO:0006611)|protein localization to cell surface (GO:0034394)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|receptor catabolic process (GO:0032801)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent SMAD protein catabolic process (GO:0030579)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|neuronal cell body (GO:0043025)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	activin binding (GO:0048185)|I-SMAD binding (GO:0070411)|ligase activity (GO:0016874)|R-SMAD binding (GO:0070412)|ubiquitin-protein transferase activity (GO:0004842)			endometrium(3)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|urinary_tract(1)	25	all_cancers(62;1.05e-08)|all_epithelial(64;4.34e-09)|Lung NSC(181;0.00902)|all_lung(186;0.0145)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)|Lung(104;0.224)			AACCACCGCACGATGTTGCTG	0.577																																						ENST00000361125.1																			0				endometrium(3)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|urinary_tract(1)	25						c.(1975-1977)Gtg>Atg		SMAD specific E3 ubiquitin protein ligase 1							119	106	110					7																	98633252		2203	4300	6503	SO:0001583	missense	57154				BMP signaling pathway|cell differentiation|ectoderm development|negative regulation of BMP signaling pathway|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of protein ubiquitination|proteasomal ubiquitin-dependent protein catabolic process|protein export from nucleus|protein localization at cell surface|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|receptor catabolic process|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent SMAD protein catabolic process	cytosol|plasma membrane	activin binding|I-SMAD binding|R-SMAD binding|ubiquitin-protein ligase activity	g.chr7:98633252C>T	AB046845	CCDS34689.1, CCDS34690.1	7q21.1-q31.1	2004-07-29			ENSG00000198742	ENSG00000198742			16807	protein-coding gene	gene with protein product		605568				10458166	Standard	NM_020429		Approved	KIAA1625	uc003upu.2	Q9HCE7	OTTHUMG00000150272	ENST00000361125.1:c.1975G>A	7.37:g.98633252C>T	ENSP00000354621:p.Val659Met					AC004893.11_ENST00000360902.1_RNA|SMURF1_ENST00000361368.2_Missense_Mutation_p.V633M|AC004893.11_ENST00000468960.2_RNA	p.V659M	NM_020429.2	NP_065162.1	Q9HCE7	SMUF1_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)|Lung(104;0.224)		17	2294	-	all_cancers(62;1.05e-08)|all_epithelial(64;4.34e-09)|Lung NSC(181;0.00902)|all_lung(186;0.0145)|Esophageal squamous(72;0.0274)		659			HECT.		A4D279|B7ZMB6|B9EGV3|O75853|Q547Q3|Q9UJT8	Missense_Mutation	SNP	ENST00000361125.1	37	c.1975G>A	CCDS34690.1	.	.	.	.	.	.	.	.	.	.	C	34	5.310098	0.95629	.	.	ENSG00000198742	ENST00000361368;ENST00000361125	T;T	0.61392	0.11;0.11	5.37	5.37	0.77165	HECT (4);	0.000000	0.85682	D	0.000000	T	0.80737	0.4680	M	0.88775	2.98	0.80722	D	1	D;D;D	0.89917	1.0;0.998;1.0	D;D;D	0.72625	0.962;0.964;0.978	D	0.84449	0.0587	10	0.87932	D	0	.	19.1035	0.93283	0.0:1.0:0.0:0.0	.	633;659;633	Q9HCE7-2;Q9HCE7;B9EGV3	.;SMUF1_HUMAN;.	M	633;659	ENSP00000355326:V633M;ENSP00000354621:V659M	ENSP00000354621:V659M	V	-	1	0	SMURF1	98471188	1.000000	0.71417	0.960000	0.40013	0.995000	0.86356	7.792000	0.85828	2.535000	0.85469	0.655000	0.94253	GTG		0.577	SMURF1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000335001.2	NM_020429		15	20	0	0	0	1	0	15	20					T	98633252	C	T	98633252	3	4	435	1	0	0	0	0	1	0	0	0	14819	536	19	1	310	1	SMURF1	7	98633252	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	68080	98633252	60505411	3685	24610											
SMURF1	57154	broad.mit.edu	37	chr7	98634699	98634699	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caggcacatacctccagttcCttctggtcaaaaggcttcag	10	10	8	13	0	3	0	2	0	1	0	5	0	5	0	3	3	1	3	3	3	3	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:98634699C>T	ENST00000361125.1	-	16	2197	c.1878G>A	c.(1876-1878)aaG>aaA	p.K626K	SMURF1_ENST00000361368.2_Silent_p.K600K|AC004893.11_ENST00000468960.2_RNA|AC004893.11_ENST00000360902.1_RNA	NM_020429.2	NP_065162.1	Q9HCE7	SMUF1_HUMAN	SMAD specific E3 ubiquitin protein ligase 1	626	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				BMP signaling pathway (GO:0030509)|cell differentiation (GO:0030154)|ectoderm development (GO:0007398)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of ossification (GO:0030279)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein export from nucleus (GO:0006611)|protein localization to cell surface (GO:0034394)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|receptor catabolic process (GO:0032801)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent SMAD protein catabolic process (GO:0030579)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|neuronal cell body (GO:0043025)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	activin binding (GO:0048185)|I-SMAD binding (GO:0070411)|ligase activity (GO:0016874)|R-SMAD binding (GO:0070412)|ubiquitin-protein transferase activity (GO:0004842)			endometrium(3)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|urinary_tract(1)	25	all_cancers(62;1.05e-08)|all_epithelial(64;4.34e-09)|Lung NSC(181;0.00902)|all_lung(186;0.0145)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)|Lung(104;0.224)			CCTCCAGTTCCTTCTGGTCAA	0.552											OREG0018188	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000361125.1																			0				endometrium(3)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|urinary_tract(1)	25						c.(1876-1878)aaG>aaA		SMAD specific E3 ubiquitin protein ligase 1							134	122	126					7																	98634699		2203	4300	6503	SO:0001819	synonymous_variant	57154				BMP signaling pathway|cell differentiation|ectoderm development|negative regulation of BMP signaling pathway|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of protein ubiquitination|proteasomal ubiquitin-dependent protein catabolic process|protein export from nucleus|protein localization at cell surface|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|receptor catabolic process|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent SMAD protein catabolic process	cytosol|plasma membrane	activin binding|I-SMAD binding|R-SMAD binding|ubiquitin-protein ligase activity	g.chr7:98634699C>T	AB046845	CCDS34689.1, CCDS34690.1	7q21.1-q31.1	2004-07-29			ENSG00000198742	ENSG00000198742			16807	protein-coding gene	gene with protein product		605568				10458166	Standard	NM_020429		Approved	KIAA1625	uc003upu.2	Q9HCE7	OTTHUMG00000150272	ENST00000361125.1:c.1878G>A	7.37:g.98634699C>T			OREG0018188	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1337	SMURF1_ENST00000361368.2_Silent_p.K600K|AC004893.11_ENST00000468960.2_RNA	p.K626K	NM_020429.2	NP_065162.1	Q9HCE7	SMUF1_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)|Lung(104;0.224)		16	2197	-	all_cancers(62;1.05e-08)|all_epithelial(64;4.34e-09)|Lung NSC(181;0.00902)|all_lung(186;0.0145)|Esophageal squamous(72;0.0274)		626			HECT.		A4D279|B7ZMB6|B9EGV3|O75853|Q547Q3|Q9UJT8	Silent	SNP	ENST00000361125.1	37	c.1878G>A	CCDS34690.1																																																																																				0.552	SMURF1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000335001.2	NM_020429		25	51	0	0	0	1	0	25	51					T	98634699	C	T	98634699	2	4	435	1	0	0	0	0	0	0	0	1	14819	680	24	3		3	SMURF1	7	98634699	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	1447	98634699	60503964	3686	24611											
ZNF789	285989	broad.mit.edu	37	chr7	99084395	99084395	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccttcaatcaaagatctttgCttttggggcatgagcgaatt	10	14	9	8	1	3	2	2	1	1	1	3	3	3	2	1	2	2	2	1	2	3	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:99084395C>A	ENST00000331410.5	+	5	832	c.562C>A	c.(562-564)Ctt>Att	p.L188I	ZNF789_ENST00000494186.1_Intron|ZNF789_ENST00000448667.1_3'UTR|ZNF789_ENST00000493485.1_Intron	NM_213603.2	NP_998768.2	Q5FWF6	ZN789_HUMAN	zinc finger protein 789	188					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|kidney(2)|large_intestine(4)|lung(2)|ovary(1)	11	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)					AAGATCTTTGCTTTTGGGGCA	0.418																																						ENST00000331410.5																			0				endometrium(2)|kidney(2)|large_intestine(4)|lung(2)|ovary(1)	11						c.(562-564)Ctt>Att		zinc finger protein 789							106	102	103					7																	99084395		2203	4300	6503	SO:0001583	missense	285989				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:99084395C>A	AK093141	CCDS34693.1, CCDS34694.1	7q22.1	2013-01-08			ENSG00000198556	ENSG00000198556		"Zinc fingers, C2H2-type", "-"	27801	protein-coding gene	gene with protein product						12477932	Standard	XM_005250281		Approved		uc003uqq.1	Q5FWF6	OTTHUMG00000154601	ENST00000331410.5:c.562C>A	7.37:g.99084395C>A	ENSP00000331927:p.Leu188Ile					ZNF789_ENST00000448667.1_3'UTR|ZNF789_ENST00000494186.1_Intron|ZNF789_ENST00000493485.1_Intron	p.L188I	NM_213603.2	NP_998768.2	Q5FWF6	ZN789_HUMAN			5	832	+	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)		188					A4D282|A6NH61|Q6ZMZ9	Missense_Mutation	SNP	ENST00000331410.5	37	c.562C>A	CCDS34693.1	.	.	.	.	.	.	.	.	.	.	C	11.99	1.803529	0.31869	.	.	ENSG00000198556	ENST00000331410	T	0.27104	1.69	3.34	-0.764	0.11027	.	.	.	.	.	T	0.29882	0.0747	M	0.86268	2.805	0.09310	N	0.999999	P	0.37061	0.58	B	0.34536	0.185	T	0.18650	-1.0330	9	0.72032	D	0.01	.	8.1154	0.30940	0.0:0.6282:0.0:0.3718	.	188	Q5FWF6	ZN789_HUMAN	I	188	ENSP00000331927:L188I	ENSP00000331927:L188I	L	+	1	0	ZNF789	98922331	0.000000	0.05858	0.000000	0.03702	0.263000	0.26337	-1.666000	0.01963	-0.335000	0.08451	0.650000	0.86243	CTT		0.418	ZNF789-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336266.1	NM_213603		46	45	1	0	4.44401e-20	1	4.92268e-20	46	45					A	99084395	C	A	99084395	3	1	435	1	0	0	0	0	1	0	0	0	18157	797	28	5	618	5	ZNF789	7	99084395	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	449696	99084395	60054268	3687	24612											
ZNF789	285989	broad.mit.edu	37	chr7	99084663	99084663	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtatcttgttgaacataagaGgattcacaccaaagaaaaac	18	9	7	7	0	2	3	1	1	1	2	2	4	2	4	1	1	2	2	1	1	6	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:99084663G>T	ENST00000331410.5	+	5	1100	c.830G>T	c.(829-831)aGg>aTg	p.R277M	ZNF789_ENST00000494186.1_Intron|ZNF789_ENST00000493485.1_Intron	NM_213603.2	NP_998768.2	Q5FWF6	ZN789_HUMAN	zinc finger protein 789	277					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|kidney(2)|large_intestine(4)|lung(2)|ovary(1)	11	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)					GAACATAAGAGGATTCACACC	0.398																																						ENST00000331410.5																			0				endometrium(2)|kidney(2)|large_intestine(4)|lung(2)|ovary(1)	11						c.(829-831)aGg>aTg		zinc finger protein 789							72	76	75					7																	99084663		2203	4300	6503	SO:0001583	missense	285989				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:99084663G>T	AK093141	CCDS34693.1, CCDS34694.1	7q22.1	2013-01-08			ENSG00000198556	ENSG00000198556		"Zinc fingers, C2H2-type", "-"	27801	protein-coding gene	gene with protein product						12477932	Standard	XM_005250281		Approved		uc003uqq.1	Q5FWF6	OTTHUMG00000154601	ENST00000331410.5:c.830G>T	7.37:g.99084663G>T	ENSP00000331927:p.Arg277Met					ZNF789_ENST00000494186.1_Intron|ZNF789_ENST00000493485.1_Intron	p.R277M	NM_213603.2	NP_998768.2	Q5FWF6	ZN789_HUMAN			5	1100	+	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)		277					A4D282|A6NH61|Q6ZMZ9	Missense_Mutation	SNP	ENST00000331410.5	37	c.830G>T	CCDS34693.1	.	.	.	.	.	.	.	.	.	.	G	14.31	2.498614	0.44455	.	.	ENSG00000198556	ENST00000331410	T	0.25579	1.79	2.4	2.4	0.29515	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.47764	0.1463	M	0.78456	2.415	0.58432	D	0.999999	D	0.89917	1.0	D	0.70716	0.97	T	0.53704	-0.8401	9	0.72032	D	0.01	.	10.9586	0.47372	0.0:0.0:1.0:0.0	.	277	Q5FWF6	ZN789_HUMAN	M	277	ENSP00000331927:R277M	ENSP00000331927:R277M	R	+	2	0	ZNF789	98922599	0.002000	0.14202	0.019000	0.16419	0.718000	0.41266	1.162000	0.31786	1.678000	0.50952	0.557000	0.71058	AGG		0.398	ZNF789-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336266.1	NM_213603		24	27	1	0	6.44725e-10	1	6.8705e-10	24	27					T	99084663	G	T	99084663	3	4	435	1	0	0	0	0	1	0	0	0	18157	1000	35	5	886	5	ZNF789	7	99084663	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	268	99084663	60054000	3688	24613											
ZKSCAN5	23660	broad.mit.edu	37	chr7	99110082	99110082	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttgtggttgttagattgttGcctgccctgatgtgcttcct	3	18	12	8	0	0	2	0	1	0	1	1	2	1	2	3	1	3	5	3	1	1	6			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:99110082G>A	ENST00000394170.2	+	3	672	c.421G>A	c.(421-423)Gcc>Acc	p.A141T	ZKSCAN5_ENST00000326775.5_Missense_Mutation_p.A141T|ZKSCAN5_ENST00000451158.1_Missense_Mutation_p.A141T	NM_014569.3	NP_055384.1	Q9Y2L8	ZKSC5_HUMAN	zinc finger with KRAB and SCAN domains 5	141					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(3)|endometrium(1)|kidney(1)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	21	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)					TTAGATTGTTGCCTGCCCTGA	0.522																																						ENST00000394170.2																			0				breast(3)|endometrium(1)|kidney(1)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	21						c.(421-423)Gcc>Acc		zinc finger with KRAB and SCAN domains 5							263	220	235					7																	99110082		2203	4300	6503	SO:0001583	missense	23660				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr7:99110082G>A	AF170025	CCDS5667.1	7q22	2013-01-09	2007-02-20	2007-02-20	ENSG00000196652	ENSG00000196652		"Zinc fingers, C2H2-type", "-", "-", "-"	12867	protein-coding gene	gene with protein product		611272	"zinc finger protein homologous to Zfp95 in mouse", "zinc finger protein 95 homolog (mouse)"	ZFP95		10585779	Standard	NM_014569		Approved	ZNF914, ZSCAN37	uc003uqv.3	Q9Y2L8	OTTHUMG00000156749	ENST00000394170.2:c.421G>A	7.37:g.99110082G>A	ENSP00000377725:p.Ala141Thr					ZKSCAN5_ENST00000326775.5_Missense_Mutation_p.A141T|ZKSCAN5_ENST00000451158.1_Missense_Mutation_p.A141T	p.A141T	NM_014569.3	NP_055384.1	Q9Y2L8	ZKSC5_HUMAN			3	672	+	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)		141					A4D280|D6W5S9	Missense_Mutation	SNP	ENST00000394170.2	37	c.421G>A	CCDS5667.1	.	.	.	.	.	.	.	.	.	.	G	5.663	0.306975	0.10733	.	.	ENSG00000196652	ENST00000537357;ENST00000326775;ENST00000451158;ENST00000394170	T;T;T	0.05199	3.48;3.48;3.48	4.95	3.12	0.35913	Transcription regulator SCAN (1);	0.744678	0.11913	N	0.517444	T	0.03348	0.0097	N	0.08118	0	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.08055	0.003;0.003	T	0.46498	-0.9187	10	0.22109	T	0.4	.	7.1579	0.25647	0.2051:0.0:0.7949:0.0	.	141;141	Q8N718;Q9Y2L8	.;ZKSC5_HUMAN	T	141	ENSP00000322872:A141T;ENSP00000392104:A141T;ENSP00000377725:A141T	ENSP00000322872:A141T	A	+	1	0	ZKSCAN5	98948018	0.852000	0.29690	0.033000	0.17914	0.139000	0.21198	1.090000	0.30902	0.798000	0.33994	0.650000	0.86243	GCC		0.522	ZKSCAN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345597.1	NM_014569		35	50	0	0	0	1	0	35	50					A	99110082	G	A	99110082	3	1	435	1	0	0	0	0	1	0	0	0	17687	1319	46	3	427	3	ZKSCAN5	7	99110082	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	25419	99110082	60028581	3689	24614											
ZKSCAN5	23660	broad.mit.edu	37	chr7	99129371	99129371	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggggaaatcttttttcagtaCgttagcctaattgaacatca	12	14	8	7	1	3	1	2	1	1	0	3	2	3	2	1	2	3	2	1	2	5	7	rs372286821		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:99129371C>T	ENST00000394170.2	+	7	2270	c.2019C>T	c.(2017-2019)taC>taT	p.Y673Y	ZKSCAN5_ENST00000326775.5_Silent_p.Y673Y|ZKSCAN5_ENST00000451158.1_Silent_p.Y673Y	NM_014569.3	NP_055384.1	Q9Y2L8	ZKSC5_HUMAN	zinc finger with KRAB and SCAN domains 5	673					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(3)|endometrium(1)|kidney(1)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	21	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)					TTTTTCAGTACGTTAGCCTAA	0.458																																						ENST00000394170.2																			0				breast(3)|endometrium(1)|kidney(1)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	21						c.(2017-2019)taC>taT		zinc finger with KRAB and SCAN domains 5		C	,	0,4406		0,0,2203	135	123	127		2019,2019	-6.6	0.6	7		127	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	ZKSCAN5	NM_014569.3,NM_145102.2	,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,	673/840,673/840	99129371	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	23660				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr7:99129371C>T	AF170025	CCDS5667.1	7q22	2013-01-09	2007-02-20	2007-02-20	ENSG00000196652	ENSG00000196652		"Zinc fingers, C2H2-type", "-", "-", "-"	12867	protein-coding gene	gene with protein product		611272	"zinc finger protein homologous to Zfp95 in mouse", "zinc finger protein 95 homolog (mouse)"	ZFP95		10585779	Standard	NM_014569		Approved	ZNF914, ZSCAN37	uc003uqv.3	Q9Y2L8	OTTHUMG00000156749	ENST00000394170.2:c.2019C>T	7.37:g.99129371C>T						ZKSCAN5_ENST00000326775.5_Silent_p.Y673Y|ZKSCAN5_ENST00000451158.1_Silent_p.Y673Y	p.Y673Y	NM_014569.3	NP_055384.1	Q9Y2L8	ZKSC5_HUMAN			7	2270	+	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)		673					A4D280|D6W5S9	Silent	SNP	ENST00000394170.2	37	c.2019C>T	CCDS5667.1																																																																																				0.458	ZKSCAN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345597.1	NM_014569		7	101	0	0	0	1	0	7	101					T	99129371	C	T	99129371	2	4	435	1	0	0	0	0	0	0	0	1	17687	547	19	1		1	ZKSCAN5	7	99129371	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	19289	99129371	60009292	3690	24615											
ZNF655	79027	broad.mit.edu	37	chr7	99170592	99170592	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gataaatcctgtagtccaagCtcaggcataattcagcataa	15	10	7	9	0	2	0	2	0	0	0	4	1	4	0	2	1	2	4	2	1	6	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:99170592C>A	ENST00000394163.2	+	3	1044	c.861C>A	c.(859-861)agC>agA	p.S287R	GS1-259H13.10_ENST00000486324.1_Intron|ZNF655_ENST00000252713.4_Missense_Mutation_p.S287R|ZNF655_ENST00000424881.1_Missense_Mutation_p.S322R|ZNF655_ENST00000493277.1_Missense_Mutation_p.S322R|ZNF655_ENST00000425063.1_3'UTR|ZNF655_ENST00000419215.2_3'UTR|GS1-259H13.10_ENST00000455905.1_Intron	NM_001009960.1|NM_138494.2	NP_001009960.1|NP_612503.1	Q8N720	ZN655_HUMAN	zinc finger protein 655	287					negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	16	all_epithelial(64;3.19e-09)|Lung NSC(181;0.0066)|all_lung(186;0.011)|Esophageal squamous(72;0.0166)					GTAGTCCAAGCTCAGGCATAA	0.388																																						ENST00000424881.1																			0				NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	16						c.(964-966)agC>agA		zinc finger protein 655							69	69	69					7																	99170592		2202	4298	6500	SO:0001583	missense	79027				G1 phase|regulation of mitotic cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding|zinc ion binding	g.chr7:99170592C>A	AY099353	CCDS5669.1, CCDS5670.1, CCDS34695.1, CCDS47655.1	7q22.1	2013-01-08			ENSG00000197343	ENSG00000197343		"Zinc fingers, C2H2-type", "-"	30899	protein-coding gene	gene with protein product						11179890, 15558030	Standard	NM_001083956		Approved	VIK-1, VIK	uc010lgc.3	Q8N720	OTTHUMG00000156637	ENST00000394163.2:c.861C>A	7.37:g.99170592C>A	ENSP00000377718:p.Ser287Arg					ZNF655_ENST00000394163.2_Missense_Mutation_p.S287R|ZNF655_ENST00000425063.1_3'UTR|ZNF655_ENST00000493277.1_Missense_Mutation_p.S322R|ZNF655_ENST00000419215.2_3'UTR|ZNF655_ENST00000252713.4_Missense_Mutation_p.S287R	p.S322R	NM_001083956.1|NM_001085368.1	NP_001077425.1|NP_001078837.1	Q8N720	ZN655_HUMAN			4	1186	+	all_epithelial(64;3.19e-09)|Lung NSC(181;0.0066)|all_lung(186;0.011)|Esophageal squamous(72;0.0166)		287					A4D291|A6NGD3|B4E3M4|B7Z9Q9|D6W5T4|Q8IV00|Q8TA89|Q96EZ3|Q9BQ85	Missense_Mutation	SNP	ENST00000394163.2	37	c.966C>A	CCDS5669.1	.	.	.	.	.	.	.	.	.	.	C	10.39	1.336206	0.24253	.	.	ENSG00000197343	ENST00000252713;ENST00000493277;ENST00000424881;ENST00000394163	T;T;T;T	0.15603	2.41;2.41;2.41;2.41	5.06	2.1	0.27182	.	0.000000	0.52532	D	0.000064	T	0.08088	0.0202	N	0.17312	0.475	0.80722	D	1	B;B	0.29508	0.246;0.159	B;B	0.29663	0.105;0.049	T	0.32929	-0.9888	10	0.21540	T	0.41	-2.1574	4.5069	0.11893	0.1728:0.6252:0.0:0.202	.	322;287	Q8N720-3;Q8N720	.;ZN655_HUMAN	R	287;322;322;287	ENSP00000252713:S287R;ENSP00000419135:S322R;ENSP00000393876:S322R;ENSP00000377718:S287R	ENSP00000252713:S287R	S	+	3	2	ZNF655	99008528	0.000000	0.05858	1.000000	0.80357	0.931000	0.56810	-1.333000	0.02667	0.310000	0.22990	-0.355000	0.07637	AGC		0.388	ZNF655-009	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000344929.1	NM_138494		24	41	1	0	4.47668e-21	1	4.96907e-21	24	41					A	99170592	C	A	99170592	3	1	435	1	0	0	0	0	1	0	0	0	18065	796	28	5	1398	5	ZNF655	7	99170592	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	41221	99170592	59968071	3691	24616											
ZNF655	79027	broad.mit.edu	37	chr7	99171035	99171035	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aatgcataggaaagagaaatCgtatgaatgtaatgagtatg	18	10	11	2	1	0	3	0	2	0	1	1	5	0	4	0	1	1	4	0	1	8	4	rs553236171		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:99171035C>T	ENST00000394163.2	+	3	1487	c.1304C>T	c.(1303-1305)tCg>tTg	p.S435L	GS1-259H13.10_ENST00000486324.1_Intron|ZNF655_ENST00000252713.4_Missense_Mutation_p.S435L|ZNF655_ENST00000424881.1_Missense_Mutation_p.S470L|ZNF655_ENST00000493277.1_Missense_Mutation_p.S470L|ZNF655_ENST00000425063.1_3'UTR|ZNF655_ENST00000419215.2_3'UTR|GS1-259H13.10_ENST00000455905.1_Intron	NM_001009960.1|NM_138494.2	NP_001009960.1|NP_612503.1	Q8N720	ZN655_HUMAN	zinc finger protein 655	435					negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	16	all_epithelial(64;3.19e-09)|Lung NSC(181;0.0066)|all_lung(186;0.011)|Esophageal squamous(72;0.0166)					AAAGAGAAATCGTATGAATGT	0.398													C|||	1	0.000199681	8e-04	0	5008	,	,		23739	0		0	False		,,,				2504	0					ENST00000424881.1																			0				NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	16						c.(1408-1410)tCg>tTg		zinc finger protein 655							122	119	120					7																	99171035		2203	4300	6503	SO:0001583	missense	79027				G1 phase|regulation of mitotic cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding|zinc ion binding	g.chr7:99171035C>T	AY099353	CCDS5669.1, CCDS5670.1, CCDS34695.1, CCDS47655.1	7q22.1	2013-01-08			ENSG00000197343	ENSG00000197343		"Zinc fingers, C2H2-type", "-"	30899	protein-coding gene	gene with protein product						11179890, 15558030	Standard	NM_001083956		Approved	VIK-1, VIK	uc010lgc.3	Q8N720	OTTHUMG00000156637	ENST00000394163.2:c.1304C>T	7.37:g.99171035C>T	ENSP00000377718:p.Ser435Leu					ZNF655_ENST00000394163.2_Missense_Mutation_p.S435L|ZNF655_ENST00000425063.1_3'UTR|ZNF655_ENST00000493277.1_Missense_Mutation_p.S470L|ZNF655_ENST00000419215.2_3'UTR|ZNF655_ENST00000252713.4_Missense_Mutation_p.S435L	p.S470L	NM_001083956.1|NM_001085368.1	NP_001077425.1|NP_001078837.1	Q8N720	ZN655_HUMAN			4	1629	+	all_epithelial(64;3.19e-09)|Lung NSC(181;0.0066)|all_lung(186;0.011)|Esophageal squamous(72;0.0166)		435					A4D291|A6NGD3|B4E3M4|B7Z9Q9|D6W5T4|Q8IV00|Q8TA89|Q96EZ3|Q9BQ85	Missense_Mutation	SNP	ENST00000394163.2	37	c.1409C>T	CCDS5669.1	.	.	.	.	.	.	.	.	.	.	C	13.22	2.172947	0.38413	.	.	ENSG00000197343	ENST00000252713;ENST00000493277;ENST00000424881;ENST00000394163	T;T;T;T	0.26810	1.71;1.71;1.71;1.71	4.28	3.38	0.38709	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.425559	0.17544	N	0.170408	T	0.16128	0.0388	N	0.19112	0.55	0.80722	D	1	B;B	0.19445	0.036;0.021	B;B	0.14023	0.01;0.003	T	0.06881	-1.0802	10	0.62326	D	0.03	0.1822	9.4671	0.38820	0.0:0.8937:0.0:0.1063	.	470;435	Q8N720-3;Q8N720	.;ZN655_HUMAN	L	435;470;470;435	ENSP00000252713:S435L;ENSP00000419135:S470L;ENSP00000393876:S470L;ENSP00000377718:S435L	ENSP00000252713:S435L	S	+	2	0	ZNF655	99008971	0.728000	0.28080	0.418000	0.26571	0.350000	0.29205	2.496000	0.45346	2.336000	0.79503	0.561000	0.74099	TCG		0.398	ZNF655-009	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000344929.1	NM_138494		25	42	0	0	0	1	0	25	42					T	99171035	C	T	99171035	3	4	435	1	0	0	0	0	1	0	0	0	18065	893	31	2	1841	2	ZNF655	7	99171035	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	443	99171035	59967628	3692	24617											
AZGP1	563	broad.mit.edu	37	chr7	99565869	99565869	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	taagccttggcccgctgcacGtagactggttctgcctccca	6	10	10	15	2	1	1	0	0	1	1	2	1	2	1	4	2	3	4	4	2	2	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:99565869G>A	ENST00000292401.4	-	3	658	c.522C>T	c.(520-522)taC>taT	p.Y174Y	AZGP1_ENST00000483612.1_5'Flank|AZGP1_ENST00000411734.1_Silent_p.Y171Y	NM_001185.3	NP_001176.1	P25311	ZA2G_HUMAN	alpha-2-glycoprotein 1, zinc-binding	174					antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cell adhesion (GO:0007155)|detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|protein transmembrane transport (GO:0071806)|retina homeostasis (GO:0001895)|RNA phosphodiester bond hydrolysis (GO:0090501)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|MHC class I protein complex (GO:0042612)|nucleus (GO:0005634)	glycoprotein binding (GO:0001948)|peptide antigen binding (GO:0042605)|protein transmembrane transporter activity (GO:0008320)|ribonuclease activity (GO:0004540)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|stomach(1)	16	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)					CCCGCTGCACGTAGACTGGTT	0.532																																						ENST00000411734.1																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|stomach(1)	16						c.(511-513)taC>taT		alpha-2-glycoprotein 1, zinc-binding							110	108	108					7																	99565869		2203	4300	6503	SO:0001819	synonymous_variant	563				antigen processing and presentation|cell adhesion|immune response|lipid catabolic process|negative regulation of cell proliferation	extracellular region|MHC class I protein complex	fatty acid binding|protein transmembrane transporter activity|ribonuclease activity	g.chr7:99565869G>A	BC005306	CCDS5680.1	7q22.1	2013-01-11	2006-11-07		ENSG00000160862	ENSG00000160862		"Immunoglobulin superfamily / C1-set domain containing"	910	protein-coding gene	gene with protein product		194460	"alpha-2-glycoprotein 1, zinc"			2049092	Standard	NM_001185		Approved	ZA2G, ZAG	uc003ush.3	P25311	OTTHUMG00000023066	ENST00000292401.4:c.522C>T	7.37:g.99565869G>A						AZGP1_ENST00000292401.4_Silent_p.Y174Y	p.Y171Y			P25311	ZA2G_HUMAN			3	518	-	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)		174					D6W5T8|O60386|Q5XKQ4|Q8N4N0	Silent	SNP	ENST00000292401.4	37	c.513C>T	CCDS5680.1																																																																																				0.532	AZGP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059387.4	NM_001185		43	38	0	0	0	1	0	43	38					A	99565869	G	A	99565869	2	1	435	1	0	0	0	0	0	0	0	1	1239	1140	40	1		1	AZGP1	7	99565869	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	394834	99565869	59572794	3693	24618											
AZGP1	563	broad.mit.edu	37	chr7	99569532	99569532	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctttactgttgtatctaaaGaactggaggtcattgagtga	11	15	10	5	0	3	3	1	2	2	1	3	4	3	4	0	2	2	2	0	2	5	6	rs371816790		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:99569532G>T	ENST00000292401.4	-	2	310	c.174C>A	c.(172-174)ttC>ttA	p.F58L	AZGP1_ENST00000411734.1_Missense_Mutation_p.F55L	NM_001185.3	NP_001176.1	P25311	ZA2G_HUMAN	alpha-2-glycoprotein 1, zinc-binding	58					antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cell adhesion (GO:0007155)|detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|protein transmembrane transport (GO:0071806)|retina homeostasis (GO:0001895)|RNA phosphodiester bond hydrolysis (GO:0090501)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|MHC class I protein complex (GO:0042612)|nucleus (GO:0005634)	glycoprotein binding (GO:0001948)|peptide antigen binding (GO:0042605)|protein transmembrane transporter activity (GO:0008320)|ribonuclease activity (GO:0004540)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|stomach(1)	16	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)					TGTATCTAAAGAACTGGAGGT	0.512																																						ENST00000411734.1																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|stomach(1)	16						c.(163-165)ttC>ttA		alpha-2-glycoprotein 1, zinc-binding							112	107	109					7																	99569532		2203	4300	6503	SO:0001583	missense	563				antigen processing and presentation|cell adhesion|immune response|lipid catabolic process|negative regulation of cell proliferation	extracellular region|MHC class I protein complex	fatty acid binding|protein transmembrane transporter activity|ribonuclease activity	g.chr7:99569532G>T	BC005306	CCDS5680.1	7q22.1	2013-01-11	2006-11-07		ENSG00000160862	ENSG00000160862		"Immunoglobulin superfamily / C1-set domain containing"	910	protein-coding gene	gene with protein product		194460	"alpha-2-glycoprotein 1, zinc"			2049092	Standard	NM_001185		Approved	ZA2G, ZAG	uc003ush.3	P25311	OTTHUMG00000023066	ENST00000292401.4:c.174C>A	7.37:g.99569532G>T	ENSP00000292401:p.Phe58Leu					AZGP1_ENST00000292401.4_Missense_Mutation_p.F58L	p.F55L			P25311	ZA2G_HUMAN			2	170	-	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)		58					D6W5T8|O60386|Q5XKQ4|Q8N4N0	Missense_Mutation	SNP	ENST00000292401.4	37	c.165C>A	CCDS5680.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.64|13.64	2.297657|2.297657	0.40694|0.40694	.|.	.|.	ENSG00000160862|ENSG00000160862	ENST00000292401;ENST00000411734|ENST00000419575	T;T|.	0.01295|.	5.04;5.04|.	1.51|1.51	1.51|1.51	0.23008|0.23008	MHC class I, alpha chain, alpha1/alpha2 (1);MHC classes I/II-like antigen recognition protein (1);MHC class I-like antigen recognition (1);|.	0.000000|.	0.33650|.	U|.	0.004696|.	T|T	0.62454|0.62454	0.2429|0.2429	M|M	0.89658|0.89658	3.05|3.05	0.09310|0.09310	N|N	1|1	D|.	0.89917|.	1.0|.	D|.	0.91635|.	0.999|.	T|T	0.54925|0.54925	-0.8220|-0.8220	10|5	0.87932|.	D|.	0|.	.|.	6.4356|6.4356	0.21821|0.21821	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	58|.	P25311|.	ZA2G_HUMAN|.	L|Y	58;55|29	ENSP00000292401:F58L;ENSP00000396093:F55L|.	ENSP00000292401:F58L|.	F|S	-|-	3|2	2|0	AZGP1|AZGP1	99407468|99407468	0.930000|0.930000	0.31532|0.31532	0.056000|0.056000	0.19401|0.19401	0.003000|0.003000	0.03518|0.03518	0.791000|0.791000	0.26915|0.26915	1.130000|1.130000	0.42092|0.42092	0.313000|0.313000	0.20887|0.20887	TTC|TCT		0.512	AZGP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059387.4	NM_001185		22	29	1	0	8.04996e-18	1	8.87193e-18	22	29					T	99569532	G	T	99569532	3	4	435	1	0	0	0	0	1	0	0	0	1239	933	33	5	734	5	AZGP1	7	99569532	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	3663	99569532	59569131	3694	24619											
ZSCAN21	7589	broad.mit.edu	37	chr7	99654769	99654769	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cctggagatgttccgccagcGcttcaggcagtttgggtacc	6	10	13	12	2	1	1	1	0	0	1	2	2	2	1	4	3	2	5	4	3	1	4	rs201880150		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:99654769G>A	ENST00000292450.4	+	2	304	c.140G>A	c.(139-141)cGc>cAc	p.R47H	ZSCAN21_ENST00000477297.1_3'UTR|ZSCAN21_ENST00000456748.2_Missense_Mutation_p.R47H|ZSCAN21_ENST00000543588.1_Missense_Mutation_p.R47H	NM_145914.2	NP_666019.1	Q9Y5A6	ZSC21_HUMAN	zinc finger and SCAN domain containing 21	47	SCAN box. {ECO:0000255|PROSITE- ProRule:PRU00187}.				positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|skin(1)	21	Lung NSC(181;0.0211)|all_lung(186;0.0323)|Esophageal squamous(72;0.0439)		STAD - Stomach adenocarcinoma(171;0.129)			TTCCGCCAGCGCTTCAGGCAG	0.597																																						ENST00000292450.4																			0				breast(1)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|skin(1)	21						c.(139-141)cGc>cAc		zinc finger and SCAN domain containing 21							95	96	95					7																	99654769		2203	4300	6503	SO:0001583	missense	7589				positive regulation of transcription, DNA-dependent|viral reproduction	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr7:99654769G>A	AL136865	CCDS5681.1	7q11.1	2013-01-08	2006-10-06	2006-10-06	ENSG00000166529	ENSG00000166529		"-", "Zinc fingers, C2H2-type"	13104	protein-coding gene	gene with protein product		601261	"zinc finger protein 38 (KOX 25)", "zinc finger protein 38"	ZNF38		2288909, 2014798	Standard	NM_145914		Approved	DKFZp434L134, NY-REN-21, Zipro1	uc003uso.3	Q9Y5A6	OTTHUMG00000154583	ENST00000292450.4:c.140G>A	7.37:g.99654769G>A	ENSP00000292450:p.Arg47His					ZSCAN21_ENST00000543588.1_Missense_Mutation_p.R47H|ZSCAN21_ENST00000456748.2_Missense_Mutation_p.R47H|ZSCAN21_ENST00000477297.1_3'UTR	p.R47H	NM_145914.2	NP_666019.1	Q9Y5A6	ZSC21_HUMAN	STAD - Stomach adenocarcinoma(171;0.129)		2	304	+	Lung NSC(181;0.0211)|all_lung(186;0.0323)|Esophageal squamous(72;0.0439)		47			SCAN box.		A4D2A6|D6W5T9|Q9H0B5	Missense_Mutation	SNP	ENST00000292450.4	37	c.140G>A	CCDS5681.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.977466	0.74360	.	.	ENSG00000166529	ENST00000543588;ENST00000292450;ENST00000456748;ENST00000438937;ENST00000379635	T;T;T;T	0.04809	3.55;3.55;3.55;3.55	4.91	4.91	0.64330	Retrovirus capsid, C-terminal (1);Transcription regulator SCAN (3);	0.000000	0.40144	N	0.001161	T	0.13670	0.0331	L	0.50333	1.59	0.39636	D	0.970254	D;D	0.65815	0.995;0.983	P;P	0.60886	0.88;0.787	T	0.00235	-1.1892	10	0.56958	D	0.05	.	13.7845	0.63102	0.0:0.0:1.0:0.0	.	47;47	Q9Y5A6;G3V1M0	ZSC21_HUMAN;.	H	47	ENSP00000441212:R47H;ENSP00000292450:R47H;ENSP00000390960:R47H;ENSP00000404207:R47H	ENSP00000292450:R47H	R	+	2	0	ZSCAN21	99492705	1.000000	0.71417	1.000000	0.80357	0.891000	0.51852	2.584000	0.46102	2.721000	0.93114	0.655000	0.94253	CGC		0.597	ZSCAN21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336166.1	NM_145914		34	52	0	0	0	1	0	34	52					A	99654769	G	A	99654769	3	1	435	1	0	0	0	0	1	0	0	0	18230	1087	38	1	142	1	ZSCAN21	7	99654769	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	85237	99654769	59483894	3695	24620											
ZNF3	7551	broad.mit.edu	37	chr7	99668884	99668884	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gatggcgaacaagagccgagCtgtacctgaaggctttccca	11	7	12	11	2	0	2	0	1	0	1	1	5	1	2	3	2	4	3	3	2	4	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:99668884C>T	ENST00000424697.1	-	6	1529	c.1223G>A	c.(1222-1224)aGc>aAc	p.S408N	ZNF3_ENST00000413658.2_Intron|ZNF3_ENST00000303915.6_Missense_Mutation_p.S408N|ZNF3_ENST00000299667.4_Missense_Mutation_p.S408N	NM_001278284.1|NM_001278287.1|NM_001278290.1|NM_001278291.1|NM_001278292.1|NM_032924.3	NP_001265213.1|NP_001265216.1|NP_001265219.1|NP_001265220.1|NP_001265221.1|NP_116313.3	P17036	ZNF3_HUMAN	zinc finger protein 3	408					cell differentiation (GO:0030154)|leukocyte activation (GO:0045321)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(8)|ovary(1)|skin(2)	25	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)	Ovarian(593;2.06e-05)|Myeloproliferative disorder(862;0.0122)|Breast(660;0.029)	STAD - Stomach adenocarcinoma(171;0.129)			AAGAGCCGAGCTGTACCTGAA	0.483																																						ENST00000303915.6																			0				NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(8)|ovary(1)|skin(2)	25						c.(1222-1224)aGc>aAc		zinc finger protein 3							99	108	105					7																	99668884		2188	4295	6483	SO:0001583	missense	7551				cell differentiation|leukocyte activation|multicellular organismal development	nucleus	DNA binding|identical protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr7:99668884C>T	AF027136	CCDS43618.1, CCDS43619.1	7q22.1	2013-01-08	2006-05-05					"Zinc fingers, C2H2-type", "-"	13089	protein-coding gene	gene with protein product		194510	"zinc finger protein 3 (A8-51)"				Standard	NM_032924		Approved	A8-51, KOX25, PP838, FLJ20216, HF.12, Zfp113	uc003usr.4	P17036		ENST00000424697.1:c.1223G>A	7.37:g.99668884C>T	ENSP00000415358:p.Ser408Asn					ZNF3_ENST00000424697.1_Missense_Mutation_p.S408N|ZNF3_ENST00000299667.4_Missense_Mutation_p.S408N|ZNF3_ENST00000413658.2_Intron	p.S408N			P17036	ZNF3_HUMAN	STAD - Stomach adenocarcinoma(171;0.129)		5	2190	-	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)	Ovarian(593;2.06e-05)|Myeloproliferative disorder(862;0.0122)|Breast(660;0.029)	408					D6W5U0|P13683|Q9HBR4|Q9NNX8|Q9NXJ1|Q9UC15|Q9UC16	Missense_Mutation	SNP	ENST00000424697.1	37	c.1223G>A	CCDS43619.1	.	.	.	.	.	.	.	.	.	.	C	5.210	0.224238	0.09863	.	.	ENSG00000166526	ENST00000424697;ENST00000303915;ENST00000299667	T;T;T	0.37235	1.21;1.21;1.21	4.48	4.48	0.54585	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.64402	D	0.000011	T	0.35248	0.0925	L	0.27944	0.81	0.09310	N	1	P;B	0.51791	0.948;0.013	P;B	0.51324	0.666;0.008	T	0.14531	-1.0469	10	0.24483	T	0.36	-8.3609	15.0558	0.71912	0.0:1.0:0.0:0.0	.	391;408	B3KRP4;P17036	.;ZNF3_HUMAN	N	408	ENSP00000415358:S408N;ENSP00000306372:S408N;ENSP00000299667:S408N	ENSP00000299667:S408N	S	-	2	0	ZNF3	99506820	0.000000	0.05858	0.999000	0.59377	0.613000	0.37349	0.031000	0.13710	2.498000	0.84270	0.655000	0.94253	AGC		0.483	ZNF3-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336247.3	NM_017715		10	67	0	0	0	1	0	10	67					T	99668884	C	T	99668884	3	4	435	1	0	0	0	0	1	0	0	0	17826	797	28	3	250	3	ZNF3	7	99668884	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	14115	99668884	59469779	3696	24621											
ZNF3	7551	broad.mit.edu	37	chr7	99669204	99669204	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ccagtgtggattctctgatgGtgggtgagggtggagctcca	6	11	17	7	0	1	2	0	2	1	0	3	4	2	4	2	5	1	1	2	5	0	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:99669204G>A	ENST00000424697.1	-	6	1209	c.903C>T	c.(901-903)caC>caT	p.H301H	ZNF3_ENST00000413658.2_Intron|ZNF3_ENST00000303915.6_Silent_p.H301H|ZNF3_ENST00000299667.4_Silent_p.H301H	NM_001278284.1|NM_001278287.1|NM_001278290.1|NM_001278291.1|NM_001278292.1|NM_032924.3	NP_001265213.1|NP_001265216.1|NP_001265219.1|NP_001265220.1|NP_001265221.1|NP_116313.3	P17036	ZNF3_HUMAN	zinc finger protein 3	301					cell differentiation (GO:0030154)|leukocyte activation (GO:0045321)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(8)|ovary(1)|skin(2)	25	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)	Ovarian(593;2.06e-05)|Myeloproliferative disorder(862;0.0122)|Breast(660;0.029)	STAD - Stomach adenocarcinoma(171;0.129)			TTCTCTGATGGTGGGTGAGGG	0.532																																						ENST00000303915.6																			0				NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(8)|ovary(1)|skin(2)	25						c.(901-903)caC>caT		zinc finger protein 3							50	55	54					7																	99669204		2200	4299	6499	SO:0001819	synonymous_variant	7551				cell differentiation|leukocyte activation|multicellular organismal development	nucleus	DNA binding|identical protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr7:99669204G>A	AF027136	CCDS43618.1, CCDS43619.1	7q22.1	2013-01-08	2006-05-05					"Zinc fingers, C2H2-type", "-"	13089	protein-coding gene	gene with protein product		194510	"zinc finger protein 3 (A8-51)"				Standard	NM_032924		Approved	A8-51, KOX25, PP838, FLJ20216, HF.12, Zfp113	uc003usr.4	P17036		ENST00000424697.1:c.903C>T	7.37:g.99669204G>A						ZNF3_ENST00000424697.1_Silent_p.H301H|ZNF3_ENST00000299667.4_Silent_p.H301H|ZNF3_ENST00000413658.2_Intron	p.H301H			P17036	ZNF3_HUMAN	STAD - Stomach adenocarcinoma(171;0.129)		5	1870	-	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)	Ovarian(593;2.06e-05)|Myeloproliferative disorder(862;0.0122)|Breast(660;0.029)	301					D6W5U0|P13683|Q9HBR4|Q9NNX8|Q9NXJ1|Q9UC15|Q9UC16	Silent	SNP	ENST00000424697.1	37	c.903C>T	CCDS43619.1																																																																																				0.532	ZNF3-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336247.3	NM_017715		14	34	0	0	0	1	0	14	34					A	99669204	G	A	99669204	2	1	435	1	0	0	0	0	0	0	0	1	17826	1252	44	3		3	ZNF3	7	99669204	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	320	99669204	59469459	3697	24622											
ZNF3	7551	broad.mit.edu	37	chr7	99672820	99672820	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tatagaggtccctctgagcaGgttccaaacgcttccactcc	9	10	8	14	1	1	2	0	1	1	1	5	2	5	2	4	2	2	3	4	2	3	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:99672820G>T	ENST00000424697.1	-	5	515	c.209C>A	c.(208-210)cCt>cAt	p.P70H	ZNF3_ENST00000413658.2_Missense_Mutation_p.P70H|ZNF3_ENST00000303915.6_Missense_Mutation_p.P70H|ZNF3_ENST00000299667.4_Missense_Mutation_p.P70H	NM_001278284.1|NM_001278287.1|NM_001278290.1|NM_001278291.1|NM_001278292.1|NM_032924.3	NP_001265213.1|NP_001265216.1|NP_001265219.1|NP_001265220.1|NP_001265221.1|NP_116313.3	P17036	ZNF3_HUMAN	zinc finger protein 3	70	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				cell differentiation (GO:0030154)|leukocyte activation (GO:0045321)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(8)|ovary(1)|skin(2)	25	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)	Ovarian(593;2.06e-05)|Myeloproliferative disorder(862;0.0122)|Breast(660;0.029)	STAD - Stomach adenocarcinoma(171;0.129)			CCTCTGAGCAGGTTCCAAACG	0.488																																						ENST00000303915.6																			0				NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(8)|ovary(1)|skin(2)	25						c.(208-210)cCt>cAt		zinc finger protein 3							150	152	152					7																	99672820		2188	4295	6483	SO:0001583	missense	7551				cell differentiation|leukocyte activation|multicellular organismal development	nucleus	DNA binding|identical protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr7:99672820G>T	AF027136	CCDS43618.1, CCDS43619.1	7q22.1	2013-01-08	2006-05-05					"Zinc fingers, C2H2-type", "-"	13089	protein-coding gene	gene with protein product		194510	"zinc finger protein 3 (A8-51)"				Standard	NM_032924		Approved	A8-51, KOX25, PP838, FLJ20216, HF.12, Zfp113	uc003usr.4	P17036		ENST00000424697.1:c.209C>A	7.37:g.99672820G>T	ENSP00000415358:p.Pro70His					ZNF3_ENST00000424697.1_Missense_Mutation_p.P70H|ZNF3_ENST00000299667.4_Missense_Mutation_p.P70H|ZNF3_ENST00000413658.2_Missense_Mutation_p.P70H	p.P70H			P17036	ZNF3_HUMAN	STAD - Stomach adenocarcinoma(171;0.129)		4	1176	-	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)	Ovarian(593;2.06e-05)|Myeloproliferative disorder(862;0.0122)|Breast(660;0.029)	70			KRAB.		D6W5U0|P13683|Q9HBR4|Q9NNX8|Q9NXJ1|Q9UC15|Q9UC16	Missense_Mutation	SNP	ENST00000424697.1	37	c.209C>A	CCDS43619.1	.	.	.	.	.	.	.	.	.	.	G	17.75	3.467182	0.63625	.	.	ENSG00000166526	ENST00000413658;ENST00000424697;ENST00000303915;ENST00000299667;ENST00000412947;ENST00000449785;ENST00000428683;ENST00000441298;ENST00000415068	T;T;T;T;T;T;T;T;T	0.02579	4.24;4.24;4.24;4.24;4.24;4.24;4.24;4.24;4.24	5.08	3.29	0.37713	Krueppel-associated box (4);	0.143046	0.32703	N	0.005747	T	0.10852	0.0265	M	0.76727	2.345	0.34306	D	0.684927	D;D;D	0.89917	0.999;0.996;1.0	D;D;D	0.72075	0.966;0.924;0.976	T	0.07888	-1.0749	10	0.52906	T	0.07	-8.8245	6.1279	0.20189	0.0938:0.0:0.7203:0.1859	.	53;70;70	B3KRP4;P17036;P17036-2	.;ZNF3_HUMAN;.	H	70;70;70;70;34;70;70;34;70	ENSP00000399951:P70H;ENSP00000415358:P70H;ENSP00000306372:P70H;ENSP00000299667:P70H;ENSP00000416088:P34H;ENSP00000405970:P70H;ENSP00000388042:P70H;ENSP00000394113:P34H;ENSP00000416686:P70H	ENSP00000299667:P70H	P	-	2	0	ZNF3	99510756	0.003000	0.15002	0.993000	0.49108	0.993000	0.82548	0.634000	0.24614	0.735000	0.32537	-0.133000	0.14855	CCT		0.488	ZNF3-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336247.3	NM_017715		24	96	1	0	9.90768e-06	1	1.02613e-05	24	96					T	99672820	G	T	99672820	3	4	435	1	0	0	0	0	1	0	0	0	17826	1000	35	5	1268	5	ZNF3	7	99672820	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	3616	99672820	59465843	3698	24623											
AP4M1	9179	broad.mit.edu	37	chr7	99702674	99702674	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctctcctccgacagagatgcGcattggcttgacggaagagt	9	9	12	11	3	1	3	0	1	1	2	3	6	2	4	2	2	1	2	2	2	1	2	rs371712994		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:99702674G>A	ENST00000359593.4	+	9	838	c.680G>A	c.(679-681)cGc>cAc	p.R227H	AP4M1_ENST00000429084.1_Missense_Mutation_p.R234H|AP4M1_ENST00000421755.1_Missense_Mutation_p.R227H|AP4M1_ENST00000422582.1_Missense_Mutation_p.R99H	NM_004722.3	NP_004713.2	O00189	AP4M1_HUMAN	adaptor-related protein complex 4, mu 1 subunit	227	MHD. {ECO:0000255|PROSITE- ProRule:PRU00404}.				Golgi to endosome transport (GO:0006895)|intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	AP-type membrane coat adaptor complex (GO:0030119)|clathrin adaptor complex (GO:0030131)|coated pit (GO:0005905)|extracellular vesicular exosome (GO:0070062)|Golgi trans cisterna (GO:0000138)|trans-Golgi network (GO:0005802)	transporter activity (GO:0005215)			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)	17	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					ACAGAGATGCGCATTGGCTTG	0.542																																					Pancreas(174;1182 2812 29595 49511)	ENST00000429084.1																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)	17						c.(700-702)cGc>cAc		adaptor-related protein complex 4, mu 1 subunit		G	HIS/ARG	0,4406		0,0,2203	127	121	123		680	3.9	1	7		123	1,8599	1.2+/-3.3	0,1,4299	no	missense	AP4M1	NM_004722.3	29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	227/454	99702674	1,13005	2203	4300	6503	SO:0001583	missense	9179				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|coated pit|Golgi trans cisterna	transporter activity	g.chr7:99702674G>A	Y08387	CCDS5685.1	7q22.1	2012-06-29			ENSG00000221838	ENSG00000221838			574	protein-coding gene	gene with protein product	"mu-adaptin-related protein-2", "mu subunit of AP-4", "AP-4 adapter complex mu subunit", "adaptor-related protein complex AP-4 mu4 subunit"	602296				9013859, 10066790, 21620353	Standard	NM_004722		Approved	MU-ARP2, MU-4, SPG50	uc003utb.4	O00189	OTTHUMG00000154722	ENST00000359593.4:c.680G>A	7.37:g.99702674G>A	ENSP00000352603:p.Arg227His					AP4M1_ENST00000422582.1_Missense_Mutation_p.R99H|AP4M1_ENST00000359593.4_Missense_Mutation_p.R227H|AP4M1_ENST00000421755.1_Missense_Mutation_p.R227H	p.R234H			O00189	AP4M1_HUMAN			9	859	+	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		227			MHD.		D6W5U1|Q8WV65|Q9UHK9	Missense_Mutation	SNP	ENST00000359593.4	37	c.701G>A	CCDS5685.1	.	.	.	.	.	.	.	.	.	.	G	14.80	2.644440	0.47258	0.0	1.16E-4	ENSG00000221838	ENST00000438383;ENST00000429084;ENST00000359593;ENST00000439416;ENST00000421755;ENST00000422582	T;T;T;T;T;T	0.20881	2.04;2.04;2.04;2.04;2.04;2.04	4.77	3.89	0.44902	Clathrin adaptor, mu subunit, C-terminal (3);	0.166270	0.50627	D	0.000118	T	0.35799	0.0944	M	0.69358	2.11	0.40268	D	0.97825	D;P;B;B	0.63880	0.993;0.532;0.307;0.109	P;B;B;B	0.56612	0.802;0.213;0.13;0.13	T	0.25187	-1.0139	10	0.87932	D	0	-7.516	10.5211	0.44920	0.0936:0.0:0.9064:0.0	.	183;179;234;227	C9JMG3;B4DKN7;C9JC87;O00189	.;.;.;AP4M1_HUMAN	H	159;234;227;183;227;99	ENSP00000401613:R159H;ENSP00000403663:R234H;ENSP00000352603:R227H;ENSP00000414286:R183H;ENSP00000412185:R227H;ENSP00000406676:R99H	ENSP00000352603:R227H	R	+	2	0	AP4M1	99540610	1.000000	0.71417	1.000000	0.80357	0.823000	0.46562	4.497000	0.60367	1.238000	0.43771	0.561000	0.74099	CGC		0.542	AP4M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336772.4	NM_004722		9	33	0	0	0	1	0	9	33					A	99702674	G	A	99702674	3	1	435	1	0	0	0	0	1	0	0	0	753	1087	38	1	714	1	AP4M1	7	99702674	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	29854	99702674	59435989	3699	24624											
AP4M1	9179	broad.mit.edu	37	chr7	99704333	99704333	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ccatgggctctccacctcggCctctcctctggggctgggcc	2	9	12	18	1	3	0	0	0	3	0	6	0	3	0	6	5	0	2	6	5	0	0	rs573143488		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:99704333C>T	ENST00000359593.4	+	15	1348	c.1190C>T	c.(1189-1191)gCc>gTc	p.A397V	AP4M1_ENST00000429084.1_Missense_Mutation_p.A404V|AP4M1_ENST00000421755.1_Missense_Mutation_p.A397V|AP4M1_ENST00000422582.1_Missense_Mutation_p.A269V	NM_004722.3	NP_004713.2	O00189	AP4M1_HUMAN	adaptor-related protein complex 4, mu 1 subunit	397	MHD. {ECO:0000255|PROSITE- ProRule:PRU00404}.				Golgi to endosome transport (GO:0006895)|intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	AP-type membrane coat adaptor complex (GO:0030119)|clathrin adaptor complex (GO:0030131)|coated pit (GO:0005905)|extracellular vesicular exosome (GO:0070062)|Golgi trans cisterna (GO:0000138)|trans-Golgi network (GO:0005802)	transporter activity (GO:0005215)			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)	17	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					TCCACCTCGGCCTCTCCTCTG	0.672													C|||	1	0.000199681	0	0.0014	5008	,	,		13303	0		0	False		,,,				2504	0				Pancreas(174;1182 2812 29595 49511)	ENST00000429084.1																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)	17						c.(1210-1212)gCc>gTc		adaptor-related protein complex 4, mu 1 subunit							46	47	46					7																	99704333		2203	4300	6503	SO:0001583	missense	9179				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|coated pit|Golgi trans cisterna	transporter activity	g.chr7:99704333C>T	Y08387	CCDS5685.1	7q22.1	2012-06-29			ENSG00000221838	ENSG00000221838			574	protein-coding gene	gene with protein product	"mu-adaptin-related protein-2", "mu subunit of AP-4", "AP-4 adapter complex mu subunit", "adaptor-related protein complex AP-4 mu4 subunit"	602296				9013859, 10066790, 21620353	Standard	NM_004722		Approved	MU-ARP2, MU-4, SPG50	uc003utb.4	O00189	OTTHUMG00000154722	ENST00000359593.4:c.1190C>T	7.37:g.99704333C>T	ENSP00000352603:p.Ala397Val					AP4M1_ENST00000422582.1_Missense_Mutation_p.A269V|AP4M1_ENST00000359593.4_Missense_Mutation_p.A397V|AP4M1_ENST00000421755.1_Missense_Mutation_p.A397V	p.A404V			O00189	AP4M1_HUMAN			15	1369	+	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		397			MHD.		D6W5U1|Q8WV65|Q9UHK9	Missense_Mutation	SNP	ENST00000359593.4	37	c.1211C>T	CCDS5685.1	.	.	.	.	.	.	.	.	.	.	C	18.58	3.654718	0.67472	.	.	ENSG00000221838	ENST00000429084;ENST00000359593;ENST00000421755;ENST00000422582	T;T;T;T	0.77750	-1.12;-1.12;-1.12;-1.12	4.73	4.73	0.59995	Clathrin adaptor, mu subunit, C-terminal (3);	0.000000	0.85682	D	0.000000	T	0.73473	0.3591	L	0.59436	1.845	0.54753	D	0.999987	B;P;P	0.43826	0.316;0.666;0.818	B;B;B	0.39465	0.203;0.3;0.3	T	0.77627	-0.2517	10	0.59425	D	0.04	-5.4331	13.0438	0.58915	0.0:1.0:0.0:0.0	.	349;404;397	B4DKN7;C9JC87;O00189	.;.;AP4M1_HUMAN	V	404;397;397;269	ENSP00000403663:A404V;ENSP00000352603:A397V;ENSP00000412185:A397V;ENSP00000406676:A269V	ENSP00000352603:A397V	A	+	2	0	AP4M1	99542269	0.959000	0.32827	0.455000	0.27031	0.731000	0.41821	3.219000	0.51200	2.451000	0.82905	0.561000	0.74099	GCC		0.672	AP4M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336772.4	NM_004722		20	22	0	0	0	1	0	20	22					T	99704333	C	T	99704333	3	4	435	1	0	0	0	0	1	0	0	0	753	739	26	3	1248	3	AP4M1	7	99704333	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	1659	99704333	59434330	3700	24625											
CNPY4	245812	broad.mit.edu	37	chr7	99722481	99722481	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	aagatgaccaagacaggaagCcaccccaaacttgaccgaga	17	3	9	12	1	0	5	0	2	0	3	0	7	0	6	5	1	2	0	5	1	4	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:99722481C>T	ENST00000262932.3	+	6	849	c.717C>T	c.(715-717)agC>agT	p.S239S	CNPY4_ENST00000480692.1_3'UTR|RP11-506M12.1_ENST00000494221.1_RNA|MBLAC1_ENST00000398075.2_5'Flank	NM_152755.1	NP_689968.1	Q8N129	CNPY4_HUMAN	canopy FGF signaling regulator 4	239						extracellular region (GO:0005576)				breast(2)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	7	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					AGACAGGAAGCCACCCCAAAC	0.557																																						ENST00000262932.3																			0				breast(2)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	7						c.(715-717)agC>agT		canopy FGF signaling regulator 4							167	153	158					7																	99722481		2203	4300	6503	SO:0001819	synonymous_variant	245812					extracellular region		g.chr7:99722481C>T	AK075537	CCDS34701.1	7q22.1	2013-07-23	2013-07-23		ENSG00000166997	ENSG00000166997			28631	protein-coding gene	gene with protein product	"protein associated with TLR4"	610047	"canopy 4 homolog (zebrafish)"			12975309	Standard	NM_152755		Approved	MGC40499, PRAT4B	uc003uto.3	Q8N129	OTTHUMG00000154817	ENST00000262932.3:c.717C>T	7.37:g.99722481C>T						CNPY4_ENST00000480692.1_3'UTR|RP11-506M12.1_ENST00000494221.1_RNA	p.S239S	NM_152755.1	NP_689968.1	Q8N129	CNPY4_HUMAN			6	849	+	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		239					Q8WUN9	Silent	SNP	ENST00000262932.3	37	c.717C>T	CCDS34701.1																																																																																				0.557	CNPY4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337224.4	NM_152755		8	46	0	0	0	1	0	8	46					T	99722481	C	T	99722481	2	4	435	1	0	0	0	0	0	0	0	1	3630	738	26	3		3	CNPY4	7	99722481	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	18148	99722481	59416182	3701	24626											
STAG3	10734	broad.mit.edu	37	chr7	99779743	99779743	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctttgttagctgatgaagaCactgactttgaagacagctt	11	14	9	7	0	1	6	0	4	1	2	1	6	1	6	0	0	2	3	0	0	3	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:99779743C>T	ENST00000426455.1	+	3	554	c.147C>T	c.(145-147)gaC>gaT	p.D49D	STAG3_ENST00000394018.2_Silent_p.D49D|STAG3_ENST00000317296.5_Silent_p.D49D	NM_001282716.1	NP_001269645.1	Q9UJ98	STAG3_HUMAN	stromal antigen 3	49					chromosome segregation (GO:0007059)|synaptonemal complex assembly (GO:0007130)	chromosome, centromeric region (GO:0000775)|extracellular space (GO:0005615)|lateral element (GO:0000800)|male germ cell nucleus (GO:0001673)|meiotic cohesin complex (GO:0030893)|nuclear meiotic cohesin complex (GO:0034991)|nucleolus (GO:0005730)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)|transverse filament (GO:0000802)				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(11)|lung(30)|ovary(5)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	66	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CTGATGAAGACACTGACTTTG	0.393																																						ENST00000426455.1																			0				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(11)|lung(30)|ovary(5)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	66						c.(145-147)gaC>gaT		stromal antigen 3							124	115	118					7																	99779743		2203	4300	6503	SO:0001819	synonymous_variant	10734				chromosome segregation|synaptonemal complex assembly	chromosome, centromeric region|meiotic cohesin complex|synaptonemal complex	binding	g.chr7:99779743C>T	AJ007798	CCDS34703.1, CCDS64730.1, CCDS75642.1	7q22	2008-02-01			ENSG00000066923	ENSG00000066923			11356	protein-coding gene	gene with protein product		608489				10698974	Standard	XM_005250116		Approved		uc003utx.1	Q9UJ98	OTTHUMG00000155183	ENST00000426455.1:c.147C>T	7.37:g.99779743C>T						STAG3_ENST00000394018.2_Silent_p.D49D|STAG3_ENST00000317296.5_Silent_p.D49D	p.D49D			Q9UJ98	STAG3_HUMAN			3	554	+	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		49					A6H8Z1|B4DZ10|D6W5U8|H7BYK9|Q8NDP3	Silent	SNP	ENST00000426455.1	37	c.147C>T	CCDS34703.1																																																																																				0.393	STAG3-004	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000338734.2	NM_012447		31	23	0	0	0	1	0	31	23					T	99779743	C	T	99779743	2	4	435	1	0	0	0	0	0	0	0	1	15243	477	17	3		3	STAG3	7	99779743	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	57262	99779743	59358920	3702	24627											
PILRB	29990	broad.mit.edu	37	chr7	99956438	99956438	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acccctgggagttagccataGttcccaacgtgagaatatcc	11	9	9	12	1	0	1	0	1	0	1	2	3	2	2	5	1	2	2	5	1	5	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:99956438G>A	ENST00000452089.1	+	7	1249	c.190G>A	c.(190-192)Gtt>Att	p.V64I	PILRB_ENST00000444073.1_Missense_Mutation_p.V64I|STAG3L5P-PVRIG2P-PILRB_ENST00000310771.4_RNA|PILRB_ENST00000448382.1_Intron|PILRB_ENST00000609309.1_Missense_Mutation_p.V64I|PILRB_ENST00000610247.1_Missense_Mutation_p.V64I			Q9UKJ0	PILRB_HUMAN	paired immunoglobin-like type 2 receptor beta	64	Ig-like V-type.			IVPN -> TAPD (in Ref. 2; CAC19193). {ECO:0000305}.	activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of plasma membrane (GO:0005887)				endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	13	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GTTAGCCATAGTTCCCAACGT	0.532																																						ENST00000310771.4																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	13						c.(190-192)Gtt>Att		paired immunoglobin-like type 2 receptor beta							69	70	70					7																	99956438		2194	4267	6461	SO:0001583	missense	29990				activation of transmembrane receptor protein tyrosine kinase activity	integral to plasma membrane	protein binding|receptor activity	g.chr7:99956438G>A	AF161081, AJ400845	CCDS43622.1	7q22.1	2014-05-16			ENSG00000121716	ENSG00000121716		"Immunoglobulin superfamily / V-set domain containing"	18297	protein-coding gene	gene with protein product		605342				10660620	Standard	NM_178238		Approved	FDFACT1, FDFACT2	uc022ail.1	Q9UKJ0	OTTHUMG00000155363	ENST00000452089.1:c.190G>A	7.37:g.99956438G>A	ENSP00000391748:p.Val64Ile					PILRB_ENST00000444073.1_Missense_Mutation_p.V64I|PILRB_ENST00000452089.1_Missense_Mutation_p.V64I|PILRB_ENST00000444874.1_Intron|PILRB_ENST00000448382.1_Intron	p.V64I			Q9UKJ0	PILRB_HUMAN			16	2686	+	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		64	IVPN -> TAPD (in Ref. 2; CAC19193).		Ig-like V-type.		Q69YF9|Q9HBS0	Missense_Mutation	SNP	ENST00000452089.1	37	c.190G>A	CCDS43622.1	.	.	.	.	.	.	.	.	.	.	G	3.199	-0.164215	0.06502	.	.	ENSG00000121716	ENST00000310771;ENST00000420688;ENST00000452089;ENST00000457519;ENST00000443526;ENST00000419749;ENST00000422808;ENST00000444073;ENST00000413850;ENST00000438231	T;T;T;T;T;T;T;T	0.21734	1.99;1.99;1.99;1.99;1.99;1.99;1.99;1.99	2.32	-1.13	0.09775	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	1.507400	0.04113	N	0.315070	T	0.11367	0.0277	N	0.14661	0.345	0.09310	N	1	B	0.24368	0.102	B	0.17979	0.02	T	0.24835	-1.0149	9	.	.	.	.	5.4847	0.16743	0.4865:0.0:0.5135:0.0	.	64	Q9UKJ0	PILRB_HUMAN	I	64;64;64;64;64;64;64;64;169;64	ENSP00000311153:V64I;ENSP00000391748:V64I;ENSP00000411261:V64I;ENSP00000403757:V64I;ENSP00000404321:V64I;ENSP00000389856:V64I;ENSP00000410764:V64I;ENSP00000408425:V64I	.	V	+	1	0	PILRB	99794374	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.254000	0.08781	-0.533000	0.06323	-0.335000	0.08231	GTT		0.532	PILRB-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339923.2	NM_178238		24	38	0	0	0	1	0	24	38					A	99956438	G	A	99956438	3	1	435	1	0	0	0	0	1	0	0	0	11926	1029	36	3	196	3	PILRB	7	99956438	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	176695	99956438	59182225	3703	24628											
PILRA	29992	broad.mit.edu	37	chr7	99971888	99971888	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcacaaggattatgtgaacCggctctttctgaactggaca	11	12	9	9	1	3	2	1	2	2	0	3	4	3	4	1	3	2	1	1	3	4	3	rs369623040		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:99971888C>T	ENST00000198536.2	+	2	498	c.286C>T	c.(286-288)Cgg>Tgg	p.R96W	PILRA_ENST00000350573.2_Missense_Mutation_p.R96W|PILRA_ENST00000453419.1_Missense_Mutation_p.R96W|PILRA_ENST00000394000.2_Missense_Mutation_p.R96W|PILRA_ENST00000474013.1_3'UTR	NM_013439.2	NP_038467.2	Q9UKJ1	PILRA_HUMAN	paired immunoglobin-like type 2 receptor alpha	96	Ig-like V-type.				signal transduction (GO:0007165)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|pancreas(1)|skin(1)|urinary_tract(1)	15	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					TTATGTGAACCGGCTCTTTCT	0.547																																						ENST00000198536.2																			0				endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|pancreas(1)|skin(1)|urinary_tract(1)	15						c.(286-288)Cgg>Tgg		paired immunoglobin-like type 2 receptor alpha		C	TRP/ARG,TRP/ARG,TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	96	105	102		286,286,286	3.4	0	7		102	0,8600		0,0,4300	no	missense,missense,missense	PILRA	NM_013439.2,NM_178272.1,NM_178273.1	101,101,101	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	possibly-damaging,possibly-damaging,possibly-damaging	96/304,96/231,96/176	99971888	1,13005	2203	4300	6503	SO:0001583	missense	29992				interspecies interaction between organisms	extracellular region|integral to membrane|plasma membrane	protein binding|receptor activity	g.chr7:99971888C>T	AF161080	CCDS5691.1, CCDS5692.1, CCDS47660.1	7q22.1	2013-01-11			ENSG00000085514	ENSG00000085514		"Immunoglobulin superfamily / V-set domain containing"	20396	protein-coding gene	gene with protein product		605341				10660620	Standard	NM_178272		Approved	FDF03	uc003uuo.1	Q9UKJ1	OTTHUMG00000155248	ENST00000198536.2:c.286C>T	7.37:g.99971888C>T	ENSP00000198536:p.Arg96Trp					PILRA_ENST00000394000.2_Missense_Mutation_p.R96W|PILRA_ENST00000453419.1_Missense_Mutation_p.R96W|PILRA_ENST00000474013.1_3'UTR|PILRA_ENST00000350573.2_Missense_Mutation_p.R96W	p.R96W	NM_013439.2	NP_038467.2	Q9UKJ1	PILRA_HUMAN			2	498	+	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		96			Ig-like V-type.		Q8NHI1	Missense_Mutation	SNP	ENST00000198536.2	37	c.286C>T	CCDS5691.1	.	.	.	.	.	.	.	.	.	.	C	16.35	3.098942	0.56183	2.27E-4	0.0	ENSG00000085514	ENST00000432297;ENST00000198536;ENST00000453419;ENST00000394000;ENST00000350573	T;T;T;T;T	0.37411	1.2;1.2;1.2;1.2;1.2	3.38	3.38	0.38709	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.41294	D	0.000909	T	0.44222	0.1283	L	0.60067	1.865	0.09310	N	1	D;P;P;P;B	0.59357	0.985;0.917;0.898;0.894;0.254	P;P;B;B;B	0.54060	0.741;0.467;0.337;0.347;0.034	T	0.23691	-1.0181	9	.	.	.	.	10.5254	0.44945	0.0:1.0:0.0:0.0	.	96;96;96;96;96	C9JJ79;C9JGG1;Q9UKJ1-4;Q9UKJ1-3;Q9UKJ1	.;.;.;.;PILRA_HUMAN	W	96	ENSP00000415111:R96W;ENSP00000198536:R96W;ENSP00000390026:R96W;ENSP00000377569:R96W;ENSP00000340109:R96W	.	R	+	1	2	PILRA	99809824	0.044000	0.20184	0.048000	0.18961	0.003000	0.03518	1.676000	0.37565	2.205000	0.71048	0.313000	0.20887	CGG		0.547	PILRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339016.1	NM_013439		31	72	0	0	0	1	0	31	72					T	99971888	C	T	99971888	3	4	435	1	0	0	0	0	1	0	0	0	11925	643	23	2	292	2	PILRA	7	99971888	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	15450	99971888	59166775	3704	24629											
PILRA	29992	broad.mit.edu	37	chr7	99971947	99971947	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttcctcaggatctccaacctGcagaagcaggaccagtctgt	10	9	9	13	0	3	1	1	0	2	1	5	3	4	3	4	2	3	2	4	2	2	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:99971947G>A	ENST00000198536.2	+	2	557	c.345G>A	c.(343-345)ctG>ctA	p.L115L	PILRA_ENST00000350573.2_Silent_p.L115L|PILRA_ENST00000453419.1_Silent_p.L115L|PILRA_ENST00000394000.2_Silent_p.L115L|PILRA_ENST00000474013.1_3'UTR	NM_013439.2	NP_038467.2	Q9UKJ1	PILRA_HUMAN	paired immunoglobin-like type 2 receptor alpha	115	Ig-like V-type.				signal transduction (GO:0007165)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.L115L(1)		endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|pancreas(1)|skin(1)|urinary_tract(1)	15	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					TCTCCAACCTGCAGAAGCAGG	0.557																																						ENST00000198536.2																			1	Substitution - coding silent(1)	p.L115L(1)	lung(1)	endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|pancreas(1)|skin(1)|urinary_tract(1)	15						c.(343-345)ctG>ctA		paired immunoglobin-like type 2 receptor alpha							105	106	106					7																	99971947		2203	4300	6503	SO:0001819	synonymous_variant	29992				interspecies interaction between organisms	extracellular region|integral to membrane|plasma membrane	protein binding|receptor activity	g.chr7:99971947G>A	AF161080	CCDS5691.1, CCDS5692.1, CCDS47660.1	7q22.1	2013-01-11			ENSG00000085514	ENSG00000085514		"Immunoglobulin superfamily / V-set domain containing"	20396	protein-coding gene	gene with protein product		605341				10660620	Standard	NM_178272		Approved	FDF03	uc003uuo.1	Q9UKJ1	OTTHUMG00000155248	ENST00000198536.2:c.345G>A	7.37:g.99971947G>A						PILRA_ENST00000394000.2_Silent_p.L115L|PILRA_ENST00000453419.1_Silent_p.L115L|PILRA_ENST00000474013.1_3'UTR|PILRA_ENST00000350573.2_Silent_p.L115L	p.L115L	NM_013439.2	NP_038467.2	Q9UKJ1	PILRA_HUMAN			2	557	+	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		115			Ig-like V-type.		Q8NHI1	Silent	SNP	ENST00000198536.2	37	c.345G>A	CCDS5691.1																																																																																				0.557	PILRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339016.1	NM_013439		53	58	0	0	0	1	0	53	58					A	99971947	G	A	99971947	2	1	435	1	0	0	0	0	0	0	0	1	11925	1306	46	3		3	PILRA	7	99971947	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	59	99971947	59166716	3705	24630											
ZCWPW1	55063	broad.mit.edu	37	chr7	99998653	99998653	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagctacttcccaaacagcGccacggggaagtcctcgcca	10	5	9	17	3	0	0	0	0	0	0	3	1	2	1	5	2	4	1	5	2	3	2	rs200988509		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:99998653G>A	ENST00000398027.2	-	18	2178	c.1931C>T	c.(1930-1932)gCg>gTg	p.A644V	ZCWPW1_ENST00000360951.4_3'UTR|ZCWPW1_ENST00000324725.6_Missense_Mutation_p.A473V|ZCWPW1_ENST00000490721.1_Missense_Mutation_p.A473V	NM_017984.4	NP_060454.3	Q9H0M4	ZCPW1_HUMAN	zinc finger, CW type with PWWP domain 1	644							zinc ion binding (GO:0008270)			breast(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)	16	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CCCAAACAGCGCCACGGGGAA	0.592																																						ENST00000398027.2																			0				breast(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)	16						c.(1930-1932)gCg>gTg		zinc finger, CW type with PWWP domain 1							43	46	45					7																	99998653		2067	4199	6266	SO:0001583	missense	55063						zinc ion binding	g.chr7:99998653G>A	AK000919	CCDS43623.1, CCDS59067.1	7q22.1	2012-02-10	2004-11-03		ENSG00000078487	ENSG00000078487			23486	protein-coding gene	gene with protein product			"zinc finger, CW-type with PWWP domain 1"			11230166, 14607086, 20826339	Standard	NM_017984		Approved	FLJ10057, DKFZp434N0510, ZCW1	uc003uut.4	Q9H0M4	OTTHUMG00000159537	ENST00000398027.2:c.1931C>T	7.37:g.99998653G>A	ENSP00000381109:p.Ala644Val					ZCWPW1_ENST00000490721.1_Missense_Mutation_p.A473V|ZCWPW1_ENST00000360951.4_3'UTR|ZCWPW1_ENST00000324725.6_Missense_Mutation_p.A473V	p.A644V	NM_017984.4	NP_060454.3	Q9H0M4	ZCPW1_HUMAN			18	2178	-	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		644					A8MVF5|B4DUQ2|Q8NA98|Q9BUD0|Q9NWF7	Missense_Mutation	SNP	ENST00000398027.2	37	c.1931C>T	CCDS43623.1	.	.	.	.	.	.	.	.	.	.	G	12.54	1.967644	0.34754	.	.	ENSG00000078487	ENST00000398027;ENST00000490721;ENST00000324725	T;T;T	0.58797	0.51;0.31;0.31	4.77	-0.336	0.12658	.	.	.	.	.	T	0.36524	0.0970	L	0.36672	1.1	0.09310	N	1	P;P;B	0.52842	0.956;0.956;0.168	B;B;B	0.39299	0.296;0.296;0.027	T	0.27502	-1.0072	8	.	.	.	2.8389	0.7606	0.01006	0.283:0.1654:0.3816:0.17	.	605;644;473	B4DXS7;Q9H0M4;Q9H0M4-4	.;ZCPW1_HUMAN;.	V	644;473;473	ENSP00000381109:A644V;ENSP00000419187:A473V;ENSP00000314880:A473V	.	A	-	2	0	ZCWPW1	99836589	0.002000	0.14202	0.000000	0.03702	0.000000	0.00434	0.301000	0.19174	0.031000	0.15407	-0.176000	0.13171	GCG		0.592	ZCWPW1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356083.1	NM_017984		11	12	0	0	0	1	0	11	12					A	99998653	G	A	99998653	3	1	435	1	0	0	0	0	1	0	0	0	17594	1087	38	1	19	1	ZCWPW1	7	99998653	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	26706	99998653	59140010	3706	24631											
ZCWPW1	55063	broad.mit.edu	37	chr7	99998766	99998766	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccaggtcactggaggcttcGtcctcaagggggacacttcc	7	9	12	13	1	2	0	2	0	0	0	6	2	5	2	3	5	0	1	3	5	1	2	rs183111731		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:99998766G>A	ENST00000398027.2	-	18	2065	c.1818C>T	c.(1816-1818)gaC>gaT	p.D606D	ZCWPW1_ENST00000360951.4_3'UTR|ZCWPW1_ENST00000324725.6_Silent_p.D435D|ZCWPW1_ENST00000490721.1_Silent_p.D435D	NM_017984.4	NP_060454.3	Q9H0M4	ZCPW1_HUMAN	zinc finger, CW type with PWWP domain 1	606							zinc ion binding (GO:0008270)	p.D606D(1)		breast(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)	16	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					TGGAGGCTTCGTCCTCAAGGG	0.622													g|||	1	0.000199681	0	0	5008	,	,		16743	0		0.001	False		,,,				2504	0					ENST00000398027.2																			1	Substitution - coding silent(1)	p.D606D(1)	large_intestine(1)	breast(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)	16						c.(1816-1818)gaC>gaT		zinc finger, CW type with PWWP domain 1							48	50	49					7																	99998766		1983	4167	6150	SO:0001819	synonymous_variant	55063						zinc ion binding	g.chr7:99998766G>A	AK000919	CCDS43623.1, CCDS59067.1	7q22.1	2012-02-10	2004-11-03		ENSG00000078487	ENSG00000078487			23486	protein-coding gene	gene with protein product			"zinc finger, CW-type with PWWP domain 1"			11230166, 14607086, 20826339	Standard	NM_017984		Approved	FLJ10057, DKFZp434N0510, ZCW1	uc003uut.4	Q9H0M4	OTTHUMG00000159537	ENST00000398027.2:c.1818C>T	7.37:g.99998766G>A						ZCWPW1_ENST00000490721.1_Silent_p.D435D|ZCWPW1_ENST00000360951.4_3'UTR|ZCWPW1_ENST00000324725.6_Silent_p.D435D	p.D606D	NM_017984.4	NP_060454.3	Q9H0M4	ZCPW1_HUMAN			18	2065	-	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		606					A8MVF5|B4DUQ2|Q8NA98|Q9BUD0|Q9NWF7	Silent	SNP	ENST00000398027.2	37	c.1818C>T	CCDS43623.1																																																																																				0.622	ZCWPW1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356083.1	NM_017984		9	24	0	0	0	1	0	9	24					A	99998766	G	A	99998766	2	1	435	1	0	0	0	0	0	0	0	1	17594	1136	40	1		1	ZCWPW1	7	99998766	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	113	99998766	59139897	3707	24632											
ZCWPW1	55063	broad.mit.edu	37	chr7	99999658	99999658	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ctgctgtgcctgcatcacccCcaagccctagccgtgaggga	7	7	11	16	1	1	1	1	1	0	0	1	2	1	2	5	1	5	2	5	1	2	1	rs374199507		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:99999658C>T	ENST00000398027.2	-	17	1725	c.1478G>A	c.(1477-1479)gGg>gAg	p.G493E	ZCWPW1_ENST00000360951.4_Intron|ZCWPW1_ENST00000324725.6_Intron|ZCWPW1_ENST00000490721.1_Intron	NM_017984.4	NP_060454.3	Q9H0M4	ZCPW1_HUMAN	zinc finger, CW type with PWWP domain 1	493							zinc ion binding (GO:0008270)			breast(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)	16	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					TGCATCACCCCCAAGCCCTAG	0.542																																						ENST00000398027.2																			0				breast(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)	16						c.(1477-1479)gGg>gAg		zinc finger, CW type with PWWP domain 1		C	GLU/GLY	1,3999		0,1,1999	132	127	129		1478	2.9	0	7		129	0,8340		0,0,4170	no	missense	ZCWPW1	NM_017984.3	98	0,1,6169	TT,TC,CC		0.0,0.025,0.0081	possibly-damaging	493/649	99999658	1,12339	2000	4170	6170	SO:0001583	missense	55063						zinc ion binding	g.chr7:99999658C>T	AK000919	CCDS43623.1, CCDS59067.1	7q22.1	2012-02-10	2004-11-03		ENSG00000078487	ENSG00000078487			23486	protein-coding gene	gene with protein product			"zinc finger, CW-type with PWWP domain 1"			11230166, 14607086, 20826339	Standard	NM_017984		Approved	FLJ10057, DKFZp434N0510, ZCW1	uc003uut.4	Q9H0M4	OTTHUMG00000159537	ENST00000398027.2:c.1478G>A	7.37:g.99999658C>T	ENSP00000381109:p.Gly493Glu					ZCWPW1_ENST00000490721.1_Intron|ZCWPW1_ENST00000360951.4_Intron|ZCWPW1_ENST00000324725.6_Intron	p.G493E	NM_017984.4	NP_060454.3	Q9H0M4	ZCPW1_HUMAN			17	1725	-	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		493					A8MVF5|B4DUQ2|Q8NA98|Q9BUD0|Q9NWF7	Missense_Mutation	SNP	ENST00000398027.2	37	c.1478G>A	CCDS43623.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.63|11.63	1.694531|1.694531	0.30052|0.30052	2.5E-4|2.5E-4	0.0|0.0	ENSG00000078487|ENSG00000233389	ENST00000398027|ENST00000449355	T|.	0.44881|.	0.91|.	4.71|4.71	2.89|2.89	0.33648|0.33648	.|.	.|.	.|.	.|.	.|.	T|T	0.34193|0.34193	0.0889|0.0889	L|L	0.36672|0.36672	1.1|1.1	0.09310|0.09310	N|N	0.999999|0.999999	B;B|.	0.21225|.	0.053;0.053|.	B;B|.	0.20184|.	0.028;0.028|.	T|T	0.20338|0.20338	-1.0278|-1.0278	8|5	.|.	.|.	.|.	12.5917|12.5917	7.0838|7.0838	0.25245|0.25245	0.0:0.7949:0.0:0.2051|0.0:0.7949:0.0:0.2051	.|.	454;493|.	B4DXS7;Q9H0M4|.	.;ZCPW1_HUMAN|.	E|S	493|126	ENSP00000381109:G493E|.	.|.	G|P	-|+	2|1	0|0	ZCWPW1|AC005071.3	99837594|99837594	0.001000|0.001000	0.12720|0.12720	0.002000|0.002000	0.10522|0.10522	0.010000|0.010000	0.07245|0.07245	0.495000|0.495000	0.22483|0.22483	0.695000|0.695000	0.31675|0.31675	0.655000|0.655000	0.94253|0.94253	GGG|CCA		0.542	ZCWPW1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356083.1	NM_017984		4	110	0	0	0	1	0	4	110					T	99999658	C	T	99999658	3	4	435	1	0	0	0	0	1	0	0	0	17594	623	22	3	476	3	ZCWPW1	7	99999658	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	892	99999658	59139005	3708	24633											
C7orf51	222950	broad.mit.edu	37	chr7	100086757	100086757	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcggcggtcaaggtgaccacGcactctgtcctgccagctgg	6	8	13	14	3	2	1	1	1	1	0	4	1	3	1	3	4	2	2	3	4	1	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:100086757G>A	ENST00000300179.2	+	4	1572	c.1413G>A	c.(1411-1413)acG>acA	p.T471T	NYAP1_ENST00000423930.1_Silent_p.T471T|NYAP1_ENST00000454988.1_Silent_p.T414T	NM_173564.2	NP_775835.2	Q6ZVC0	NYAP1_HUMAN	neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 1	471					neuron projection morphogenesis (GO:0048812)|phosphatidylinositol 3-kinase signaling (GO:0014065)												AGGTGACCACGCACTCTGTCC	0.672																																						ENST00000423930.1																			0											c.(1411-1413)acG>acA		neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 1							36	37	37					7																	100086757		2202	4299	6501	SO:0001819	synonymous_variant	222950							g.chr7:100086757G>A	AK094857	CCDS5696.1	7q22.1	2011-11-30	2011-11-30	2011-11-30	ENSG00000166924	ENSG00000166924			22009	protein-coding gene	gene with protein product		615477	"chromosome 7 open reading frame 51", "KIAA1486-like"	C7orf51, KIAA1486L		21946561	Standard	NM_173564		Approved	FLJ37538	uc003uvd.2	Q6ZVC0	OTTHUMG00000155290	ENST00000300179.2:c.1413G>A	7.37:g.100086757G>A						NYAP1_ENST00000300179.2_Silent_p.T471T|NYAP1_ENST00000454988.1_Silent_p.T414T	p.T471T			Q6ZVC0	CG051_HUMAN			4	1572	+			471					Q6U9Y3|Q8N1V0	Silent	SNP	ENST00000300179.2	37	c.1413G>A	CCDS5696.1																																																																																				0.672	NYAP1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000339335.2	NM_173564		4	7	0	0	0	1	0	4	7					A	100086757	G	A	100086757	2	1	435	1	0	0	0	0	0	0	0	1	2400	1074	38	1		1	C7orf51	7	100086757	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	87099	100086757	59051906	3709	24634											
C7orf51	222950	broad.mit.edu	37	chr7	100087214	100087214	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggaagaagaggaggtgggcGccgcgacatttggggcaggc	10	4	20	7	3	0	2	0	0	0	2	0	5	0	4	1	7	0	1	1	7	2	1	rs137910126		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:100087214G>A	ENST00000300179.2	+	4	2029	c.1870G>A	c.(1870-1872)Gcc>Acc	p.A624T	NYAP1_ENST00000423930.1_Missense_Mutation_p.A624T|NYAP1_ENST00000454988.1_Missense_Mutation_p.A567T	NM_173564.2	NP_775835.2	Q6ZVC0	NYAP1_HUMAN	neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 1	624					neuron projection morphogenesis (GO:0048812)|phosphatidylinositol 3-kinase signaling (GO:0014065)												GGAGGTGGGCGCCGCGACATT	0.632																																						ENST00000423930.1																			0											c.(1870-1872)Gcc>Acc		neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 1							34	35	35					7																	100087214		2201	4299	6500	SO:0001583	missense	222950							g.chr7:100087214G>A	AK094857	CCDS5696.1	7q22.1	2011-11-30	2011-11-30	2011-11-30	ENSG00000166924	ENSG00000166924			22009	protein-coding gene	gene with protein product		615477	"chromosome 7 open reading frame 51", "KIAA1486-like"	C7orf51, KIAA1486L		21946561	Standard	NM_173564		Approved	FLJ37538	uc003uvd.2	Q6ZVC0	OTTHUMG00000155290	ENST00000300179.2:c.1870G>A	7.37:g.100087214G>A	ENSP00000300179:p.Ala624Thr					NYAP1_ENST00000300179.2_Missense_Mutation_p.A624T|NYAP1_ENST00000454988.1_Missense_Mutation_p.A567T	p.A624T			Q6ZVC0	CG051_HUMAN			4	2029	+			624					Q6U9Y3|Q8N1V0	Missense_Mutation	SNP	ENST00000300179.2	37	c.1870G>A	CCDS5696.1	.	.	.	.	.	.	.	.	.	.	g	0.033	-1.324332	0.01309	.	.	ENSG00000166924	ENST00000300179;ENST00000423930;ENST00000454988	T;T;T	0.31510	1.49;1.49;1.49	5.42	2.2	0.27929	.	0.294355	0.24419	N	0.038691	T	0.09730	0.0239	N	0.04203	-0.255	0.09310	N	1	B;B	0.19706	0.038;0.038	B;B	0.10450	0.005;0.005	T	0.35525	-0.9785	10	0.02654	T	1	-11.289	5.358	0.16071	0.1924:0.0:0.6414:0.1662	.	567;624	C9JS30;Q6ZVC0	.;CG051_HUMAN	T	624;624;567	ENSP00000300179:A624T;ENSP00000411861:A624T;ENSP00000394424:A567T	ENSP00000300179:A624T	A	+	1	0	C7orf51	99925150	0.029000	0.19370	0.239000	0.24122	0.073000	0.16967	0.452000	0.21795	0.676000	0.31285	-0.217000	0.12591	GCC		0.632	NYAP1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000339335.2	NM_173564		15	32	0	0	0	1	0	15	32					A	100087214	G	A	100087214	3	1	435	1	0	0	0	0	1	0	0	0	2400	1087	38	1	1880	1	C7orf51	7	100087214	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	457	100087214	59051449	3710	24635											
MOSPD3	64598	broad.mit.edu	37	chr7	100212493	100212493	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tgagtcttgtttctcagaccCccgccagcaactggccacca	8	9	8	16	1	2	2	1	1	2	1	3	2	2	2	5	1	2	2	5	1	1	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:100212493C>T	ENST00000393950.2	+	4	797	c.515C>T	c.(514-516)cCc>cTc	p.P172L	MOSPD3_ENST00000424091.2_Missense_Mutation_p.P162L|MOSPD3_ENST00000223054.4_Missense_Mutation_p.P172L|MOSPD3_ENST00000379527.2_Missense_Mutation_p.P172L	NM_023948.4	NP_076438.1	O75425	MSPD3_HUMAN	motile sperm domain containing 3	172					heart development (GO:0007507)	integral component of membrane (GO:0016021)	structural molecule activity (GO:0005198)			breast(1)|kidney(3)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	16	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					TTCTCAGACCCCCGCCAGCAA	0.587																																						ENST00000393950.2																			0				breast(1)|kidney(3)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	16						c.(514-516)cCc>cTc		motile sperm domain containing 3							38	43	41					7																	100212493		2202	4300	6502	SO:0001583	missense	64598					integral to membrane	structural molecule activity	g.chr7:100212493C>T	BC011653	CCDS5701.1, CCDS47662.1	7q22	2009-11-06			ENSG00000106330	ENSG00000106330			25078	protein-coding gene	gene with protein product		609125				15533722	Standard	XM_005250531		Approved	CDS3, NET30	uc003uvs.3	O75425	OTTHUMG00000159599	ENST00000393950.2:c.515C>T	7.37:g.100212493C>T	ENSP00000377522:p.Pro172Leu					MOSPD3_ENST00000424091.2_Missense_Mutation_p.P162L|MOSPD3_ENST00000379527.2_Missense_Mutation_p.P172L|MOSPD3_ENST00000223054.4_Missense_Mutation_p.P172L	p.P172L	NM_023948.4	NP_076438.1	O75425	MSPD3_HUMAN			4	797	+	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)		172					A4D2D1|A6NG17|C9JE89|D6W5W1|O75423|O75424	Missense_Mutation	SNP	ENST00000393950.2	37	c.515C>T	CCDS5701.1	.	.	.	.	.	.	.	.	.	.	C	15.31	2.796072	0.50208	.	.	ENSG00000106330	ENST00000223054;ENST00000493970;ENST00000379527;ENST00000393950;ENST00000424091;ENST00000393953	.	.	.	3.9	3.01	0.34805	.	0.849644	0.10129	N	0.712242	T	0.23611	0.0571	N	0.08118	0	0.18873	N	0.999986	B;B	0.13594	0.008;0.001	B;B	0.14578	0.011;0.002	T	0.16600	-1.0397	9	0.31617	T	0.26	-0.1767	9.6628	0.39965	0.0:0.7881:0.2119:0.0	.	162;172	C9JE89;O75425	.;MSPD3_HUMAN	L	172;172;172;172;162;158	.	ENSP00000223054:P172L	P	+	2	0	MOSPD3	100050429	0.023000	0.18921	0.056000	0.19401	0.825000	0.46686	1.181000	0.32017	1.218000	0.43458	0.563000	0.77884	CCC		0.587	MOSPD3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356395.1	NM_023948		11	19	0	0	0	1	0	11	19					T	100212493	C	T	100212493	3	4	435	1	0	0	0	0	1	0	0	0	9717	623	22	3	529	3	MOSPD3	7	100212493	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	125279	100212493	58926170	3711	24636											
GNB2	2783	broad.mit.edu	37	chr7	100274182	100274182	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccgaaaagcatgtggggacTcaacactgacccaggtgagg	12	5	13	11	1	1	2	1	2	0	0	1	4	1	3	2	4	2	1	2	4	3	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:100274182T>C	ENST00000303210.4	+	3	564	c.82T>C	c.(82-84)Tca>Cca	p.S28P	GNB2_ENST00000424361.1_5'UTR|GNB2_ENST00000393924.1_Missense_Mutation_p.S28P|GNB2_ENST00000436220.1_5'UTR|GNB2_ENST00000427895.1_Intron|GNB2_ENST00000419828.1_Intron|GNB2_ENST00000393926.1_Missense_Mutation_p.S28P	NM_005273.3	NP_005264.2	P62879	GBB2_HUMAN	guanine nucleotide binding protein (G protein), beta polypeptide 2	28					cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|G-protein coupled receptor signaling pathway (GO:0007186)|GTP catabolic process (GO:0006184)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cell body (GO:0044297)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|vesicle (GO:0031982)	calcium channel regulator activity (GO:0005246)|GTPase activity (GO:0003924)|GTPase binding (GO:0051020)|protein complex binding (GO:0032403)|signal transducer activity (GO:0004871)			endometrium(1)|lung(3)|ovary(2)|prostate(1)	7	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)	Ovarian(593;0.238)				ATGTGGGGACTCAACACTGAC	0.587																																						ENST00000303210.4																			0				endometrium(1)|lung(3)|ovary(2)|prostate(1)	7						c.(82-84)Tca>Cca		guanine nucleotide binding protein (G protein), beta polypeptide 2							260	143	182					7																	100274182		2203	4300	6503	SO:0001583	missense	2783				cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|synaptic transmission	perinuclear region of cytoplasm|plasma membrane	GTPase activity|GTPase binding|signal transducer activity	g.chr7:100274182T>C	M16514	CCDS5703.1	7q21.3-q22.1	2013-01-10			ENSG00000172354	ENSG00000172354		"WD repeat domain containing"	4398	protein-coding gene	gene with protein product	"G protein, beta-2 subunit", "guanine nucleotide-binding protein G(I)/G(S)/G(T) beta subunit 2", "signal-transducing guanine nucleotide-binding regulatory protein beta subunit", "transducin beta chain 2"	139390				9799793	Standard	NM_005273		Approved		uc003uwb.3	P62879	OTTHUMG00000137419	ENST00000303210.4:c.82T>C	7.37:g.100274182T>C	ENSP00000305260:p.Ser28Pro					GNB2_ENST00000424361.1_5'UTR|GNB2_ENST00000393924.1_Missense_Mutation_p.S28P|GNB2_ENST00000419828.1_Intron|GNB2_ENST00000436220.1_5'UTR|GNB2_ENST00000393926.1_Missense_Mutation_p.S28P|GNB2_ENST00000427895.1_Intron	p.S28P	NM_005273.3	NP_005264.2	P62879	GBB2_HUMAN			3	564	+	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)	Ovarian(593;0.238)	28					B3KPU1|P11016|P54312	Missense_Mutation	SNP	ENST00000303210.4	37	c.82T>C	CCDS5703.1	.	.	.	.	.	.	.	.	.	.	.	15.43	2.830186	0.50845	.	.	ENSG00000172354	ENST00000303210;ENST00000451587;ENST00000393926;ENST00000431068;ENST00000412215;ENST00000393924	T;T;T;T;T;T	0.01335	5.0;5.0;5.0;5.0;5.0;5.0	4.42	3.25	0.37280	WD40 repeat-like-containing domain (1);	0.171896	0.40554	N	0.001073	T	0.01421	0.0046	L	0.40543	1.245	0.45690	D	0.998605	B	0.27700	0.186	B	0.27262	0.078	T	0.60475	-0.7256	10	0.33940	T	0.23	-1.5947	5.0331	0.14421	0.1848:0.0:0.1923:0.6228	.	28	P62879	GBB2_HUMAN	P	28	ENSP00000305260:S28P;ENSP00000399904:S28P;ENSP00000377503:S28P;ENSP00000390077:S28P;ENSP00000413219:S28P;ENSP00000377501:S28P	ENSP00000305260:S28P	S	+	1	0	GNB2	100112118	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	2.555000	0.45854	0.713000	0.32060	0.459000	0.35465	TCA		0.587	GNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268391.2	NM_005273		26	33	0	0	0	1	0	26	33					C	100274182	T	C	100274182	3	2	435	1	0	0	0	0	1	0	0	0	6517	1551	54	4	88	4	GNB2	7	100274182	Missense_Mutation	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	61689	100274182	58864481	3712	24637											
GIGYF1	64599	broad.mit.edu	37	chr7	100279357	100279357	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gctggtcagtagtcatccacGctctcgatctcaccagaaga	10	9	9	13	2	4	2	3	0	2	2	7	3	5	2	2	1	0	3	2	1	2	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:100279357G>A	ENST00000275732.5	-	24	4302	c.3093C>T	c.(3091-3093)agC>agT	p.S1031S		NM_022574.4	NP_072096.2	O75420	PERQ1_HUMAN	GRB10 interacting GYF protein 1	1031					insulin-like growth factor receptor signaling pathway (GO:0048009)					central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)					AGTCATCCACGCTCTCGATCT	0.677																																						ENST00000275732.5																			0				central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23						c.(3091-3093)agC>agT		GRB10 interacting GYF protein 1							38	39	38					7																	100279357		2202	4300	6502	SO:0001819	synonymous_variant	64599							g.chr7:100279357G>A	AF053356	CCDS34708.1	7q22	2008-02-11	2008-02-11	2008-02-11	ENSG00000146830	ENSG00000146830			9126	protein-coding gene	gene with protein product	"GYF domain containing 1"	612064	"PERQ amino acid rich, with GYF domain 1"	PERQ1		9799793, 12771153	Standard	NM_022574		Approved	GYF1	uc003uwg.1	O75420	OTTHUMG00000157036	ENST00000275732.5:c.3093C>T	7.37:g.100279357G>A							p.S1031S	NM_022574.4	NP_072096.2	O75420	PERQ1_HUMAN			24	4302	-	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)		1031					Q6Y7W7|Q8WZ38	Silent	SNP	ENST00000275732.5	37	c.3093C>T	CCDS34708.1																																																																																				0.677	GIGYF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347205.2	NM_022574		8	10	0	0	0	1	0	8	10					A	100279357	G	A	100279357	2	1	435	1	0	0	0	0	0	0	0	1	6377	1078	38	1		1	GIGYF1	7	100279357	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	5175	100279357	58859306	3713	24638											
GIGYF1	64599	broad.mit.edu	37	chr7	100281031	100281031	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cttgcgttcctcttcctcccGcttcgccctgagctccactt	2	14	6	19	3	1	1	0	1	1	0	6	1	5	1	5	0	2	3	5	0	0	5	rs566533404		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:100281031G>A	ENST00000275732.5	-	18	3298	c.2089C>T	c.(2089-2091)Cgg>Tgg	p.R697W	GIGYF1_ENST00000471340.2_5'Flank	NM_022574.4	NP_072096.2	O75420	PERQ1_HUMAN	GRB10 interacting GYF protein 1	697					insulin-like growth factor receptor signaling pathway (GO:0048009)					central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)					TCTTCCTCCCGCTTCGCCCTG	0.657																																						ENST00000275732.5																			0				central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23						c.(2089-2091)Cgg>Tgg		GRB10 interacting GYF protein 1							113	127	122					7																	100281031		2203	4300	6503	SO:0001583	missense	64599							g.chr7:100281031G>A	AF053356	CCDS34708.1	7q22	2008-02-11	2008-02-11	2008-02-11	ENSG00000146830	ENSG00000146830			9126	protein-coding gene	gene with protein product	"GYF domain containing 1"	612064	"PERQ amino acid rich, with GYF domain 1"	PERQ1		9799793, 12771153	Standard	NM_022574		Approved	GYF1	uc003uwg.1	O75420	OTTHUMG00000157036	ENST00000275732.5:c.2089C>T	7.37:g.100281031G>A	ENSP00000275732:p.Arg697Trp						p.R697W	NM_022574.4	NP_072096.2	O75420	PERQ1_HUMAN			18	3298	-	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)		697					Q6Y7W7|Q8WZ38	Missense_Mutation	SNP	ENST00000275732.5	37	c.2089C>T	CCDS34708.1	.	.	.	.	.	.	.	.	.	.	.	15.77	2.932924	0.52866	.	.	ENSG00000146830	ENST00000539430;ENST00000275732	T	0.65364	-0.15	4.05	4.05	0.47172	.	0.432490	0.20175	N	0.097657	T	0.71567	0.3355	L	0.54323	1.7	0.53688	D	0.999976	D	0.89917	1.0	D	0.77557	0.99	T	0.72197	-0.4363	10	0.59425	D	0.04	-29.1935	9.0776	0.36531	0.0:0.0:0.7811:0.2189	.	697	O75420	PERQ1_HUMAN	W	416;697	ENSP00000275732:R697W	ENSP00000275732:R697W	R	-	1	2	GIGYF1	100118967	1.000000	0.71417	1.000000	0.80357	0.704000	0.40688	2.500000	0.45381	2.090000	0.63153	0.313000	0.20887	CGG		0.657	GIGYF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347205.2	NM_022574		79	92	0	0	0	1	0	79	92					A	100281031	G	A	100281031	3	1	435	1	0	0	0	0	1	0	0	0	6377	1086	38	1	1046	1	GIGYF1	7	100281031	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	1674	100281031	58857632	3714	24639											
GIGYF1	64599	broad.mit.edu	37	chr7	100282479	100282479	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtgaactgctcctcctccaaGgagctgtcctgcagggaggc	7	8	13	13	0	0	1	0	1	0	0	4	3	4	3	4	3	4	3	4	3	2	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:100282479G>A	ENST00000275732.5	-	12	2538	c.1329C>T	c.(1327-1329)tcC>tcT	p.S443S	GIGYF1_ENST00000471340.2_5'UTR	NM_022574.4	NP_072096.2	O75420	PERQ1_HUMAN	GRB10 interacting GYF protein 1	443					insulin-like growth factor receptor signaling pathway (GO:0048009)					central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)					CCTCCTCCAAGGAGCTGTCCT	0.632																																						ENST00000275732.5																			0				central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23						c.(1327-1329)tcC>tcT		GRB10 interacting GYF protein 1							15	16	16					7																	100282479		2192	4279	6471	SO:0001819	synonymous_variant	64599							g.chr7:100282479G>A	AF053356	CCDS34708.1	7q22	2008-02-11	2008-02-11	2008-02-11	ENSG00000146830	ENSG00000146830			9126	protein-coding gene	gene with protein product	"GYF domain containing 1"	612064	"PERQ amino acid rich, with GYF domain 1"	PERQ1		9799793, 12771153	Standard	NM_022574		Approved	GYF1	uc003uwg.1	O75420	OTTHUMG00000157036	ENST00000275732.5:c.1329C>T	7.37:g.100282479G>A						GIGYF1_ENST00000471340.2_5'UTR	p.S443S	NM_022574.4	NP_072096.2	O75420	PERQ1_HUMAN			12	2538	-	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)		443					Q6Y7W7|Q8WZ38	Silent	SNP	ENST00000275732.5	37	c.1329C>T	CCDS34708.1																																																																																				0.632	GIGYF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347205.2	NM_022574		7	5	0	0	0	1	0	7	5					A	100282479	G	A	100282479	2	1	435	1	0	0	0	0	0	0	0	1	6377	987	35	3		3	GIGYF1	7	100282479	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	1448	100282479	58856184	3715	24640											
ZAN	7455	broad.mit.edu	37	chr7	100334249	100334249	+	RNA	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cccccggggggtaccctaacGgaggtgaggggctatggttt	6	8	17	10	2	0	1	0	1	0	0	0	2	0	2	3	8	2	3	3	8	3	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:100334249G>A	ENST00000348028.3	+	0	415				ZAN_ENST00000421100.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000542585.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000538115.1_RNA			Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida (GO:0007339)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.G84R(1)		NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			GTACCCTAACGGAGGTGAGGG	0.657																																						ENST00000542585.1																			1	Substitution - Missense(1)	p.G84R(1)	pancreas(1)	NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139								zonadhesin (gene/pseudogene)							32	32	32					7																	100334249		1796	3856	5652			7455				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane		g.chr7:100334249G>A	U83191		7q22.1	2013-10-10	2013-10-10		ENSG00000146839	ENSG00000146839			12857	protein-coding gene	gene with protein product		602372	"zonadhesin"			9799793, 17033959	Standard	NM_003386		Approved		uc003uwk.3	Q9Y493	OTTHUMG00000157037		7.37:g.100334249G>A						ZAN_ENST00000421100.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000427578.1_RNA		NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	STAD - Stomach adenocarcinoma(171;0.19)		0	398	+	Lung NSC(181;0.041)|all_lung(186;0.0581)							A0FKC8|D6W5W4|O00218|Q96L85|Q96L86|Q96L87|Q96L88|Q96L89|Q96L90|Q9BXN9|Q9BZ83|Q9BZ84|Q9BZ85|Q9BZ86|Q9BZ87|Q9BZ88	RNA	SNP	ENST00000348028.3	37			.	.	.	.	.	.	.	.	.	.	G	13.93	2.384316	0.42308	.	.	ENSG00000146839	ENST00000546292;ENST00000538115;ENST00000542585	T;T;T	0.02682	4.2;4.2;4.2	4.55	3.64	0.41730	Concanavalin A-like lectin/glucanase (1);MAM domain (3);	0.533294	0.14215	N	0.333773	T	0.11623	0.0283	M	0.66560	2.04	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.76071	0.978;0.987	T	0.01042	-1.1471	10	0.87932	D	0	.	8.3291	0.32175	0.1193:0.0:0.8807:0.0	.	84;84	F5H0T8;Q9Y493	.;ZAN_HUMAN	R	84	ENSP00000445943:G84R;ENSP00000445091:G84R;ENSP00000444427:G84R	ENSP00000423579:G84R	G	+	1	0	ZAN	100172185	0.971000	0.33674	0.808000	0.32385	0.015000	0.08874	1.738000	0.38207	1.172000	0.42781	0.561000	0.74099	GGA		0.657	ZAN-006	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000347214.1	NM_003386		25	37	0	0	0	1	0	25	37					A	100334249	G	A	100334249	1	1	435	0	1	0	0	0	0	0	0	0	17510	1117	39	2		2	ZAN	7	100334249	RNA	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	51770	100334249	58804414	3716	24641											
ZAN	7455	broad.mit.edu	37	chr7	100350261	100350261	+	RNA	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctctacagaaaaactcaccAtccccatggaaaaacccacc	16	6	3	16	0	2	1	1	0	1	1	4	2	3	2	5	1	3	0	5	1	5	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:100350261A>G	ENST00000348028.3	+	0	2698				ZAN_ENST00000421100.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000542585.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000538115.1_RNA			Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida (GO:0007339)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			AAAACTCACCATCCCCATGGA	0.488																																						ENST00000542585.1																			0				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139								zonadhesin (gene/pseudogene)							274	311	300					7																	100350261		1877	4121	5998			7455				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane		g.chr7:100350261A>G	U83191		7q22.1	2013-10-10	2013-10-10		ENSG00000146839	ENSG00000146839			12857	protein-coding gene	gene with protein product		602372	"zonadhesin"			9799793, 17033959	Standard	NM_003386		Approved		uc003uwk.3	Q9Y493	OTTHUMG00000157037		7.37:g.100350261A>G						ZAN_ENST00000421100.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000427578.1_RNA		NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	STAD - Stomach adenocarcinoma(171;0.19)		0	2681	+	Lung NSC(181;0.041)|all_lung(186;0.0581)							A0FKC8|D6W5W4|O00218|Q96L85|Q96L86|Q96L87|Q96L88|Q96L89|Q96L90|Q9BXN9|Q9BZ83|Q9BZ84|Q9BZ85|Q9BZ86|Q9BZ87|Q9BZ88	RNA	SNP	ENST00000348028.3	37			.	.	.	.	.	.	.	.	.	.	a	6.421	0.445713	0.12164	.	.	ENSG00000146839	ENST00000546292;ENST00000538115;ENST00000542585	T;T;T	0.62364	0.03;0.03;0.03	3.14	-6.29	0.02013	.	.	.	.	.	T	0.34164	0.0888	N	0.12182	0.205	0.18873	N	0.999986	B;B	0.28713	0.22;0.04	B;B	0.25140	0.058;0.023	T	0.18116	-1.0347	9	0.42905	T	0.14	.	4.989	0.14205	0.2926:0.0:0.4529:0.2544	.	845;845	F5H0T8;Q9Y493	.;ZAN_HUMAN	V	845	ENSP00000445943:I845V;ENSP00000445091:I845V;ENSP00000444427:I845V	ENSP00000423579:I845V	I	+	1	0	ZAN	100188197	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-3.798000	0.00363	-1.448000	0.01941	-1.389000	0.01157	ATC		0.488	ZAN-006	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000347214.1	NM_003386		6	95	0	0	0	1	0	6	95					G	100350261	A	G	100350261	1	3	435	0	1	0	0	0	0	0	0	0	17510	217	8	4		4	ZAN	7	100350261	RNA	SNP	A	TCGA-XK-AAIW-01A-11D-A41K-08	16012	100350261	58788402	3717	24642											
ZAN	7455	broad.mit.edu	37	chr7	100367552	100367552	+	RNA	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gctgccaggagaacagcatgGcagacgcctggaacaagaac	14	3	13	11	1	0	3	0	0	0	3	0	5	0	4	2	3	5	3	2	3	4	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:100367552G>A	ENST00000348028.3	+	0	5368				ZAN_ENST00000421100.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000542585.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000538115.1_RNA			Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida (GO:0007339)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			GAACAGCATGGCAGACGCCTG	0.542																																						ENST00000542585.1																			0				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139								zonadhesin (gene/pseudogene)							88	87	88					7																	100367552		1922	4120	6042			7455				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane		g.chr7:100367552G>A	U83191		7q22.1	2013-10-10	2013-10-10		ENSG00000146839	ENSG00000146839			12857	protein-coding gene	gene with protein product		602372	"zonadhesin"			9799793, 17033959	Standard	NM_003386		Approved		uc003uwk.3	Q9Y493	OTTHUMG00000157037		7.37:g.100367552G>A						ZAN_ENST00000421100.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000427578.1_RNA		NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	STAD - Stomach adenocarcinoma(171;0.19)		0	5351	+	Lung NSC(181;0.041)|all_lung(186;0.0581)							A0FKC8|D6W5W4|O00218|Q96L85|Q96L86|Q96L87|Q96L88|Q96L89|Q96L90|Q9BXN9|Q9BZ83|Q9BZ84|Q9BZ85|Q9BZ86|Q9BZ87|Q9BZ88	RNA	SNP	ENST00000348028.3	37			.	.	.	.	.	.	.	.	.	.	G	12.06	1.823883	0.32237	.	.	ENSG00000146839	ENST00000546292;ENST00000538115;ENST00000542585;ENST00000546213	T;T;T;T	0.24350	2.4;2.39;2.38;1.86	3.5	-1.95	0.07548	von Willebrand factor, type D domain (1);Uncharacterised domain, cysteine-rich (1);	1.023590	0.07854	N	0.965175	T	0.13372	0.0324	N	0.17674	0.51	0.09310	N	1	B;B	0.21520	0.046;0.057	B;B	0.18561	0.013;0.022	T	0.29671	-1.0004	10	0.36615	T	0.2	.	3.5451	0.07826	0.4668:0.0:0.3527:0.1805	.	1735;1735	F5H0T8;Q9Y493	.;ZAN_HUMAN	T	1735;1735;1735;312	ENSP00000445943:A1735T;ENSP00000445091:A1735T;ENSP00000444427:A1735T;ENSP00000441117:A312T	ENSP00000423579:A1735T	A	+	1	0	ZAN	100205488	0.000000	0.05858	0.000000	0.03702	0.016000	0.09150	-0.251000	0.08818	-0.440000	0.07211	-0.291000	0.09656	GCA		0.542	ZAN-006	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000347214.1	NM_003386		2	1	0	0	0	1	0	2	1					A	100367552	G	A	100367552	1	1	435	0	1	0	0	0	0	0	0	0	17510	1203	42	3		3	ZAN	7	100367552	RNA	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	17291	100367552	58771111	3718	24643											
ZAN	7455	broad.mit.edu	37	chr7	100373052	100373052	+	RNA	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttgtcctggtgaaagtgtGccaccccgccatggccttgc	5	11	11	14	1	1	1	0	1	1	0	2	1	2	1	6	2	2	0	6	2	1	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:100373052G>A	ENST00000348028.3	+	0	6046				ZAN_ENST00000421100.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000542585.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000538115.1_RNA			Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida (GO:0007339)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			GTGAAAGTGTGCCACCCCGCC	0.552																																						ENST00000542585.1																			0				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139								zonadhesin (gene/pseudogene)							63	63	63					7																	100373052		2028	4166	6194			7455				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane		g.chr7:100373052G>A	U83191		7q22.1	2013-10-10	2013-10-10		ENSG00000146839	ENSG00000146839			12857	protein-coding gene	gene with protein product		602372	"zonadhesin"			9799793, 17033959	Standard	NM_003386		Approved		uc003uwk.3	Q9Y493	OTTHUMG00000157037		7.37:g.100373052G>A						ZAN_ENST00000421100.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000427578.1_RNA		NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	STAD - Stomach adenocarcinoma(171;0.19)		0	6027	+	Lung NSC(181;0.041)|all_lung(186;0.0581)							A0FKC8|D6W5W4|O00218|Q96L85|Q96L86|Q96L87|Q96L88|Q96L89|Q96L90|Q9BXN9|Q9BZ83|Q9BZ84|Q9BZ85|Q9BZ86|Q9BZ87|Q9BZ88	RNA	SNP	ENST00000348028.3	37			.	.	.	.	.	.	.	.	.	.	G	15.57	2.873067	0.51695	.	.	ENSG00000146839	ENST00000546292;ENST00000538115;ENST00000542585;ENST00000546213	T;T;T;T	0.63255	-0.03;-0.03;-0.03;-0.03	4.26	4.26	0.50523	von Willebrand factor, type D domain (3);	0.000000	0.47852	D	0.000201	T	0.76983	0.4064	.	.	.	0.36801	D	0.885346	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	T	0.81980	-0.0684	9	0.54805	T	0.06	.	12.8735	0.57978	0.0:0.0:1.0:0.0	.	471;1960;1961	F5GX59;F5H0T8;Q9Y493	.;.;ZAN_HUMAN	Y	1960;1960;1960;471	ENSP00000445943:C1960Y;ENSP00000445091:C1960Y;ENSP00000444427:C1960Y;ENSP00000441117:C471Y	ENSP00000445091:C1960Y	C	+	2	0	ZAN	100210988	1.000000	0.71417	0.936000	0.37596	0.310000	0.27922	7.210000	0.77924	2.303000	0.77524	0.462000	0.41574	TGC		0.552	ZAN-006	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000347214.1	NM_003386		15	15	0	0	0	1	0	15	15					A	100373052	G	A	100373052	1	1	435	0	1	0	0	0	0	0	0	0	17510	1319	46	3		3	ZAN	7	100373052	RNA	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	5500	100373052	58765611	3719	24644											
ZAN	7455	broad.mit.edu	37	chr7	100373386	100373386	+	RNA	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agcattgttaacatcaagatCggggtgcaagtcaagtttga	13	11	11	6	1	2	2	2	1	0	1	3	2	2	2	0	2	3	4	0	2	4	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:100373386C>T	ENST00000348028.3	+	0	6287				ZAN_ENST00000421100.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000542585.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000538115.1_RNA			Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida (GO:0007339)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			ACATCAAGATCGGGGTGCAAG	0.493																																						ENST00000542585.1																			0				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139								zonadhesin (gene/pseudogene)							105	102	103					7																	100373386		2069	4211	6280			7455				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane		g.chr7:100373386C>T	U83191		7q22.1	2013-10-10	2013-10-10		ENSG00000146839	ENSG00000146839			12857	protein-coding gene	gene with protein product		602372	"zonadhesin"			9799793, 17033959	Standard	NM_003386		Approved		uc003uwk.3	Q9Y493	OTTHUMG00000157037		7.37:g.100373386C>T						ZAN_ENST00000421100.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000427578.1_RNA		NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	STAD - Stomach adenocarcinoma(171;0.19)		0	6268	+	Lung NSC(181;0.041)|all_lung(186;0.0581)							A0FKC8|D6W5W4|O00218|Q96L85|Q96L86|Q96L87|Q96L88|Q96L89|Q96L90|Q9BXN9|Q9BZ83|Q9BZ84|Q9BZ85|Q9BZ86|Q9BZ87|Q9BZ88	RNA	SNP	ENST00000348028.3	37																																																																																						0.493	ZAN-006	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000347214.1	NM_003386		18	23	0	0	0	1	0	18	23					T	100373386	C	T	100373386	1	4	435	0	1	0	0	0	0	0	0	0	17510	874	31	2		2	ZAN	7	100373386	RNA	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	334	100373386	58765277	3720	24645											
ZAN	7455	broad.mit.edu	37	chr7	100392853	100392853	+	RNA	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agaacccctgtcagaatgacGggcagtgtcgggagcaggga	11	5	16	9	2	1	3	1	1	0	2	2	5	1	5	2	3	2	2	2	3	2	0	rs369009637		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:100392853G>A	ENST00000348028.3	+	0	8052				ZAN_ENST00000421100.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000542585.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000538115.1_RNA			Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida (GO:0007339)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			TCAGAATGACGGGCAGTGTCG	0.627																																						ENST00000542585.1																			0				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139								zonadhesin (gene/pseudogene)							30	33	32					7																	100392853		1966	4139	6105			7455				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane		g.chr7:100392853G>A	U83191		7q22.1	2013-10-10	2013-10-10		ENSG00000146839	ENSG00000146839			12857	protein-coding gene	gene with protein product		602372	"zonadhesin"			9799793, 17033959	Standard	NM_003386		Approved		uc003uwk.3	Q9Y493	OTTHUMG00000157037		7.37:g.100392853G>A						ZAN_ENST00000421100.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000427578.1_RNA		NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	STAD - Stomach adenocarcinoma(171;0.19)		0	8371	+	Lung NSC(181;0.041)|all_lung(186;0.0581)							A0FKC8|D6W5W4|O00218|Q96L85|Q96L86|Q96L87|Q96L88|Q96L89|Q96L90|Q9BXN9|Q9BZ83|Q9BZ84|Q9BZ85|Q9BZ86|Q9BZ87|Q9BZ88	RNA	SNP	ENST00000348028.3	37			.	.	.	.	.	.	.	.	.	.	G	17.45	3.393691	0.62066	.	.	ENSG00000146839	ENST00000546292;ENST00000546213	T;D	0.97480	0.58;-4.4	4.59	4.59	0.56863	EGF (1);Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.37955	N	0.001873	D	0.97971	0.9332	.	.	.	0.31234	N	0.696025	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.96443	0.9328	9	0.42905	T	0.14	.	13.6166	0.62112	0.0:0.0:1.0:0.0	.	1092;2629;2721	F5GX59;F5H0T8;Q9Y493	.;.;ZAN_HUMAN	R	2629;1092	ENSP00000445943:G2629R;ENSP00000441117:G1092R	ENSP00000441117:G1092R	G	+	1	0	ZAN	100230789	1.000000	0.71417	0.700000	0.30305	0.416000	0.31233	4.714000	0.61902	2.491000	0.84063	0.655000	0.94253	GGG		0.627	ZAN-006	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000347214.1	NM_003386		6	14	0	0	0	1	0	6	14					A	100392853	G	A	100392853	1	1	435	0	1	0	0	0	0	0	0	0	17510	1116	39	2		2	ZAN	7	100392853	RNA	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	19467	100392853	58745810	3721	24646											
SLC12A9	56996	broad.mit.edu	37	chr7	100463550	100463550	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgtggccacggtggccgacGccctcaagatgaacaagaat	12	6	12	11	3	1	3	1	1	0	2	1	4	1	3	3	3	1	0	3	3	4	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:100463550G>A	ENST00000354161.3	+	14	2193	c.2068G>A	c.(2068-2070)Gcc>Acc	p.A690T	TRIP6_ENST00000200457.4_5'Flank	NM_020246.3	NP_064631.2	Q9BXP2	S12A9_HUMAN	solute carrier family 12, member 9	690					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cation:chloride symporter activity (GO:0015377)			breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(20)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	41	Lung NSC(181;0.041)|all_lung(186;0.0581)					GGTGGCCGACGCCCTCAAGAT	0.701																																						ENST00000354161.3																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(20)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	41						c.(2068-2070)Gcc>Acc		solute carrier family 12, member 9							31	38	36					7																	100463550		2202	4295	6497	SO:0001583	missense	56996					integral to membrane|plasma membrane	cation:chloride symporter activity	g.chr7:100463550G>A	AF284422	CCDS5707.1, CCDS59068.1, CCDS59069.1	7q22	2013-07-18	2013-07-18		ENSG00000146828	ENSG00000146828		"Solute carriers"	17435	protein-coding gene	gene with protein product	"cation-chloride cotransporter-interacting protein"					10871601, 11239002	Standard	NM_020246		Approved	CIP1	uc003uwp.4	Q9BXP2	OTTHUMG00000156045	ENST00000354161.3:c.2068G>A	7.37:g.100463550G>A	ENSP00000275730:p.Ala690Thr						p.A690T	NM_020246.3	NP_064631.2	Q9BXP2	S12A9_HUMAN			14	2193	+	Lung NSC(181;0.041)|all_lung(186;0.0581)		690					B7Z740|D6W5X0|D6W5X2|F5H8C2|Q9BWL2|Q9BXP1|Q9BYI0|Q9NQR5	Missense_Mutation	SNP	ENST00000354161.3	37	c.2068G>A	CCDS5707.1	.	.	.	.	.	.	.	.	.	.	G	17.25	3.341774	0.61073	.	.	ENSG00000146828	ENST00000354161;ENST00000539308	D	0.91945	-2.94	5.44	5.44	0.79542	.	0.175887	0.48286	D	0.000181	D	0.88926	0.6570	L	0.58428	1.81	0.80722	D	1	P	0.39352	0.669	B	0.34346	0.18	D	0.87137	0.2200	10	0.15499	T	0.54	.	16.7552	0.85497	0.0:0.0:1.0:0.0	.	690	Q9BXP2	S12A9_HUMAN	T	690;316	ENSP00000275730:A690T	ENSP00000275730:A690T	A	+	1	0	SLC12A9	100301486	1.000000	0.71417	0.966000	0.40874	0.955000	0.61496	9.853000	0.99521	2.564000	0.86499	0.555000	0.69702	GCC		0.701	SLC12A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342837.1	NM_020246		28	26	0	0	0	1	0	28	26					A	100463550	G	A	100463550	3	1	435	1	0	0	0	0	1	0	0	0	14390	1087	38	1	2118	1	SLC12A9	7	100463550	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	70697	100463550	58675113	3722	24647											
SRRT	51593	broad.mit.edu	37	chr7	100483353	100483353	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtacccaggctttatgcgggTggcgctctcagagccccagc	6	8	13	14	2	1	1	1	0	1	1	2	1	1	1	3	3	4	3	3	3	2	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:100483353T>C	ENST00000347433.4	+	11	1507	c.1349T>C	c.(1348-1350)gTg>gCg	p.V450A	SRRT_ENST00000388793.4_Missense_Mutation_p.V449A|SRRT_ENST00000432932.1_Missense_Mutation_p.V449A|SRRT_ENST00000457580.2_Missense_Mutation_p.V450A			Q9BXP5	SRRT_HUMAN	serrate, RNA effector molecule	450					cell proliferation (GO:0008283)|neuronal stem cell maintenance (GO:0097150)|primary miRNA processing (GO:0031053)|regulation of transcription, DNA-templated (GO:0006355)|response to arsenic-containing substance (GO:0046685)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						TTTATGCGGGTGGCGCTCTCA	0.547																																						ENST00000388793.4																			0				breast(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						c.(1345-1347)gTg>gCg		serrate RNA effector molecule homolog (Arabidopsis)							84	74	77					7																	100483353		2203	4300	6503	SO:0001583	missense	51593				cell proliferation|primary miRNA processing|response to arsenic-containing substance	cytoplasm|nucleoplasm	protein binding	g.chr7:100483353T>C		CCDS34709.1, CCDS47665.1, CCDS47666.1, CCDS47667.1	7q21	2014-04-14	2014-04-14		ENSG00000087087	ENSG00000087087			24101	protein-coding gene	gene with protein product	"arsenite resistance protein"	614469	"serrate RNA effector molecule homolog (Arabidopsis)"			11239002, 11230166	Standard	NM_015908		Approved	Asr2, serrate, ARS2	uc003uwy.2	Q9BXP5	OTTHUMG00000157031	ENST00000347433.4:c.1349T>C	7.37:g.100483353T>C	ENSP00000314491:p.Val450Ala					SRRT_ENST00000347433.4_Missense_Mutation_p.V450A|SRRT_ENST00000457580.2_Missense_Mutation_p.V450A|SRRT_ENST00000432932.1_Missense_Mutation_p.V449A	p.V449A	NM_001128852.1|NM_015908.5	NP_001122324.1|NP_056992.4	Q9BXP5	SRRT_HUMAN			11	1566	+			450					A4D2E5|A4D2E6|A6NK22|B4DJL4|B4DZA6|O95808|Q32MI4|Q6NT74|Q8TDQ5|Q9BWP6|Q9BXP4|Q9Y4S4	Missense_Mutation	SNP	ENST00000347433.4	37	c.1346T>C	CCDS34709.1	.	.	.	.	.	.	.	.	.	.	t	28.1	4.893565	0.91889	.	.	ENSG00000087087	ENST00000457580;ENST00000388793;ENST00000432932;ENST00000347433;ENST00000448764	T;T;T;T	0.51325	0.71;0.71;0.71;0.71	5.0	5.0	0.66597	.	0.000000	0.85682	D	0.000000	T	0.66626	0.2808	M	0.75085	2.285	0.80722	D	1	P;D;D;D	0.61697	0.663;0.99;0.99;0.984	B;D;D;D	0.73380	0.257;0.98;0.98;0.956	T	0.69351	-0.5168	10	0.54805	T	0.06	.	12.7202	0.57137	0.0:0.0:0.0:1.0	.	449;449;450;450	Q9BXP5-3;Q9BXP5-4;Q9BXP5-2;Q9BXP5	.;.;.;SRRT_HUMAN	A	450;449;449;450;80	ENSP00000416553:V450A;ENSP00000373445:V449A;ENSP00000391852:V449A;ENSP00000314491:V450A	ENSP00000314491:V450A	V	+	2	0	SRRT	100321289	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	5.213000	0.65230	2.098000	0.63641	0.524000	0.50904	GTG		0.547	SRRT-004	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000347168.1	NM_015908		6	10	0	0	0	1	0	6	10					C	100483353	T	C	100483353	3	2	435	1	0	0	0	0	1	0	0	0	15171	1696	59	4	1387	4	SRRT	7	100483353	Missense_Mutation	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	19803	100483353	58655310	3723	24648											
MUC17	140453	broad.mit.edu	37	chr7	100678675	100678675	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acacctgctgaaggtaccagCatgccaacctcaacttatag	13	8	7	13	0	1	1	1	1	0	0	1	1	1	1	4	1	6	3	4	1	6	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:100678675C>T	ENST00000306151.4	+	3	4042	c.3978C>T	c.(3976-3978)agC>agT	p.S1326S		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1326	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					AAGGTACCAGCATGCCAACCT	0.453																																						ENST00000306151.4																			0				NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343						c.(3976-3978)agC>agT		mucin 17, cell surface associated							246	235	239					7																	100678675		2203	4298	6501	SO:0001819	synonymous_variant	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100678675C>T	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"Mucins"	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.3978C>T	7.37:g.100678675C>T							p.S1326S	NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN			3	4042	+	Lung NSC(181;0.136)|all_lung(186;0.182)		1326			59 X approximate tandem repeats.|Ser-rich.		O14761|Q685J2|Q8TDH7	Silent	SNP	ENST00000306151.4	37	c.3978C>T	CCDS34711.1																																																																																				0.453	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		71	117	0	0	0	1	0	71	117					T	100678675	C	T	100678675	2	4	435	1	0	0	0	0	0	0	0	1	9974	709	25	3		3	MUC17	7	100678675	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	195322	100678675	58459988	3724	24649											
MUC17	140453	broad.mit.edu	37	chr7	100679721	100679721	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cagttcatctcctacacctgCtgaaggtaccagcatgccaa	11	9	7	14	0	2	1	1	1	1	0	3	1	2	1	4	1	5	4	4	1	4	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:100679721C>T	ENST00000306151.4	+	3	5088	c.5024C>T	c.(5023-5025)gCt>gTt	p.A1675V		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1675	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CCTACACCTGCTGAAGGTACC	0.493																																						ENST00000306151.4																			0				NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343						c.(5023-5025)gCt>gTt		mucin 17, cell surface associated							208	219	215					7																	100679721		2203	4300	6503	SO:0001583	missense	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100679721C>T	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"Mucins"	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.5024C>T	7.37:g.100679721C>T	ENSP00000302716:p.Ala1675Val						p.A1675V	NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN			3	5088	+	Lung NSC(181;0.136)|all_lung(186;0.182)		1675			59 X approximate tandem repeats.|Ser-rich.		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	c.5024C>T	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	C	5.644	0.303412	0.10678	.	.	ENSG00000169876	ENST00000306151	T	0.01629	4.72	0.932	0.932	0.19466	.	.	.	.	.	T	0.01061	0.0035	N	0.14661	0.345	0.09310	N	1	D	0.55385	0.971	B	0.39094	0.29	T	0.52351	-0.8587	9	0.21540	T	0.41	.	5.3368	0.15961	0.0:1.0:0.0:0.0	.	1675	Q685J3	MUC17_HUMAN	V	1675	ENSP00000302716:A1675V	ENSP00000302716:A1675V	A	+	2	0	MUC17	100466441	0.000000	0.05858	0.004000	0.12327	0.005000	0.04900	0.181000	0.16880	0.857000	0.35407	0.134000	0.15878	GCT		0.493	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		90	144	0	0	0	1	0	90	144					T	100679721	C	T	100679721	3	4	435	1	0	0	0	0	1	0	0	0	9974	797	28	3	5034	3	MUC17	7	100679721	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	1046	100679721	58458942	3725	24650											
MUC17	140453	broad.mit.edu	37	chr7	100683688	100683688	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtatgtctgtcagcaccatGccggtggccagttctgaggc	7	10	13	11	1	3	1	1	1	2	0	3	1	3	1	3	3	2	3	3	3	1	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:100683688G>A	ENST00000306151.4	+	3	9055	c.8991G>A	c.(8989-8991)atG>atA	p.M2997I		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	2997	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					TCAGCACCATGCCGGTGGCCA	0.502																																						ENST00000306151.4																			0				NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343						c.(8989-8991)atG>atA		mucin 17, cell surface associated							251	263	259					7																	100683688		2203	4300	6503	SO:0001583	missense	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100683688G>A	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"Mucins"	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.8991G>A	7.37:g.100683688G>A	ENSP00000302716:p.Met2997Ile						p.M2997I	NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN			3	9055	+	Lung NSC(181;0.136)|all_lung(186;0.182)		2997			59 X approximate tandem repeats.|Ser-rich.		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	c.8991G>A	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	G	0.007	-1.959225	0.00465	.	.	ENSG00000169876	ENST00000306151	T	0.01787	4.64	.	.	.	.	.	.	.	.	T	0.00754	0.0025	N	0.03608	-0.345	0.09310	N	1	B	0.26512	0.151	B	0.17098	0.017	T	0.45264	-0.9273	7	0.33940	T	0.23	.	.	.	.	.	2997	Q685J3	MUC17_HUMAN	I	2997	ENSP00000302716:M2997I	ENSP00000302716:M2997I	M	+	3	0	MUC17	100470408	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	-1.967000	0.01508	-1.505000	0.01807	-1.490000	0.00973	ATG		0.502	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		113	134	0	0	0	1	0	113	134					A	100683688	G	A	100683688	3	1	435	1	0	0	0	0	1	0	0	0	9974	1319	46	3	9001	3	MUC17	7	100683688	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	3967	100683688	58454975	3726	24651											
MUC17	140453	broad.mit.edu	37	chr7	100685810	100685810	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctatgcctgtcagcaccacaCgtgtgaccagctctgagggt	8	9	11	13	1	2	2	1	2	1	0	2	2	2	2	3	1	3	2	3	1	1	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:100685810C>T	ENST00000306151.4	+	3	11177	c.11113C>T	c.(11113-11115)Cgt>Tgt	p.R3705C		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	3705	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CAGCACCACACGTGTGACCAG	0.502																																						ENST00000306151.4																			0				NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343						c.(11113-11115)Cgt>Tgt		mucin 17, cell surface associated							225	209	214					7																	100685810		2203	4300	6503	SO:0001583	missense	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100685810C>T	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"Mucins"	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.11113C>T	7.37:g.100685810C>T	ENSP00000302716:p.Arg3705Cys						p.R3705C	NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN			3	11177	+	Lung NSC(181;0.136)|all_lung(186;0.182)		3705			59 X approximate tandem repeats.|Ser-rich.		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	c.11113C>T	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	t	6.741	0.505582	0.12822	.	.	ENSG00000169876	ENST00000306151	T	0.03496	3.91	2.12	-1.73	0.08081	.	.	.	.	.	T	0.04003	0.0112	N	0.08118	0	0.09310	N	1	D	0.67145	0.996	D	0.66351	0.943	T	0.35425	-0.9789	9	0.36615	T	0.2	.	2.3315	0.04237	0.2356:0.4415:0.0:0.3229	.	3705	Q685J3	MUC17_HUMAN	C	3705	ENSP00000302716:R3705C	ENSP00000302716:R3705C	R	+	1	0	MUC17	100472530	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-6.541000	0.00062	-0.671000	0.05274	-0.521000	0.04368	CGT		0.502	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		24	93	0	0	0	1	0	24	93					T	100685810	C	T	100685810	3	4	435	1	0	0	0	0	1	0	0	0	9974	536	19	1	11123	1	MUC17	7	100685810	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	2122	100685810	58452853	3727	24652											
SERPINE1	5054	broad.mit.edu	37	chr7	100779042	100779042	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcgctgcagaaagtgaagatCgaggtgaacgagagtggcac	13	5	16	7	3	0	5	0	2	0	3	1	7	0	5	0	2	2	3	0	2	3	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:100779042C>T	ENST00000223095.4	+	7	1204	c.1047C>T	c.(1045-1047)atC>atT	p.I349I	SERPINE1_ENST00000445463.2_Silent_p.I334I	NM_000602.4	NP_000593.1	P05121	PAI1_HUMAN	serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1	349					angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cellular response to lipopolysaccharide (GO:0071222)|chronological cell aging (GO:0001300)|defense response to Gram-negative bacterium (GO:0050829)|extracellular matrix organization (GO:0030198)|fibrinolysis (GO:0042730)|gene expression (GO:0010467)|negative regulation of blood coagulation (GO:0030195)|negative regulation of cell adhesion mediated by integrin (GO:0033629)|negative regulation of cell migration (GO:0030336)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of fibrinolysis (GO:0051918)|negative regulation of plasminogen activation (GO:0010757)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of smooth muscle cell-matrix adhesion (GO:2000098)|negative regulation of vascular wound healing (GO:0061044)|negative regulation of wound healing (GO:0061045)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood coagulation (GO:0030194)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of leukotriene production involved in inflammatory response (GO:0035491)|positive regulation of monocyte chemotaxis (GO:0090026)|positive regulation of receptor-mediated endocytosis (GO:0048260)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell proliferation (GO:0042127)|regulation of receptor activity (GO:0010469)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	protease binding (GO:0002020)|serine-type endopeptidase inhibitor activity (GO:0004867)			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(3)	20	Lung NSC(181;0.136)|all_lung(186;0.182)				Alteplase(DB00009)|Anistreplase(DB00029)|Drotrecogin alfa(DB00055)|Reteplase(DB00015)|Tenecteplase(DB00031)|Urokinase(DB00013)	AAGTGAAGATCGAGGTGAACG	0.577																																						ENST00000223095.4																			0				central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(3)	20						c.(1045-1047)atC>atT		serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1	Atorvastatin(DB01076)|Dimethyl sulfoxide(DB01093)|Drotrecogin alfa(DB00055)|Simvastatin(DB00641)|Tenecteplase(DB00031)|Troglitazone(DB00197)|Urokinase(DB00013)						89	80	83					7																	100779042		2203	4300	6503	SO:0001819	synonymous_variant	5054				angiogenesis|cellular response to chemical stimulus|cellular response to lipopolysaccharide|chronological cell aging|defense response to Gram-negative bacterium|fibrinolysis|negative regulation of apoptosis|negative regulation of cell adhesion mediated by integrin|negative regulation of fibrinolysis|negative regulation of plasminogen activation|negative regulation of smooth muscle cell migration|negative regulation of smooth muscle cell-matrix adhesion|negative regulation of vascular wound healing|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of interleukin-8 production|positive regulation of leukotriene production involved in inflammatory response|positive regulation of monocyte chemotaxis|positive regulation of receptor-mediated endocytosis|regulation of receptor activity	extracellular matrix|extracellular space|plasma membrane|platelet alpha granule lumen	protease binding|serine-type endopeptidase inhibitor activity	g.chr7:100779042C>T	M16006	CCDS5711.1	7q22.1	2014-02-18	2005-08-18		ENSG00000106366	ENSG00000106366		"Serine (or cysteine) peptidase inhibitors"	8583	protein-coding gene	gene with protein product	"plasminogen activator inhibitor, type I"	173360	"serine (or cysteine) proteinase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1"	PLANH1, PAI1		3097076, 2891140, 24172014	Standard	NM_000602		Approved	PAI	uc003uxt.4	P05121	OTTHUMG00000157107	ENST00000223095.4:c.1047C>T	7.37:g.100779042C>T						SERPINE1_ENST00000445463.2_Silent_p.I334I	p.I349I	NM_000602.4	NP_000593.1	P05121	PAI1_HUMAN			7	1204	+	Lung NSC(181;0.136)|all_lung(186;0.182)		349					B7Z4S0|F8WD53	Silent	SNP	ENST00000223095.4	37	c.1047C>T	CCDS5711.1																																																																																				0.577	SERPINE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347458.1	NM_000602		10	25	0	0	0	1	0	10	25					T	100779042	C	T	100779042	2	4	435	1	0	0	0	0	0	0	0	1	14111	874	31	2		2	SERPINE1	7	100779042	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	93232	100779042	58359621	3728	24653											
MOGAT3	346606	broad.mit.edu	37	chr7	100839365	100839365	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gggtggaggcgctgggggacGgggatggggcggcccactgc	4	4	24	9	3	0	0	0	0	0	0	0	3	0	3	1	10	1	1	1	10	0	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:100839365G>A	ENST00000223114.4	-	7	1054	c.888C>T	c.(886-888)ccC>ccT	p.P296P	MOGAT3_ENST00000440203.2_Missense_Mutation_p.P325L|MOGAT3_ENST00000379423.3_Missense_Mutation_p.R229C	NM_178176.2	NP_835470.1	Q86VF5	MOGT3_HUMAN	monoacylglycerol O-acyltransferase 3	296					glycerol metabolic process (GO:0006071)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	2-acylglycerol O-acyltransferase activity (GO:0003846)|diacylglycerol O-acyltransferase activity (GO:0004144)			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(10)|ovary(3)	22	Lung NSC(181;0.168)|all_lung(186;0.215)					GCTGGGGGACGGGGATGGGGC	0.672																																						ENST00000440203.2																			0				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(10)|ovary(3)	22						c.(973-975)cCg>cTg		monoacylglycerol O-acyltransferase 3							23	24	24					7																	100839365		2200	4299	6499	SO:0001819	synonymous_variant	346606				glycerol metabolic process|lipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	2-acylglycerol O-acyltransferase activity|diacylglycerol O-acyltransferase activity	g.chr7:100839365G>A	AY229854	CCDS5714.1, CCDS75643.1	7q22	2012-09-06			ENSG00000106384	ENSG00000106384	2.3.1.20, 2.3.1.22		23249	protein-coding gene	gene with protein product		610184				12618427, 14970677	Standard	XM_005250309		Approved	DC7, MGAT3	uc003uyc.3	Q86VF5	OTTHUMG00000023328	ENST00000223114.4:c.888C>T	7.37:g.100839365G>A						MOGAT3_ENST00000379423.3_Missense_Mutation_p.R229C|MOGAT3_ENST00000223114.4_Silent_p.P296P	p.P325L			Q86VF5	MOGT3_HUMAN			6	1031	-	Lung NSC(181;0.168)|all_lung(186;0.215)		0					Q496A6|Q496A7|Q496A8|Q9UDW7	Missense_Mutation	SNP	ENST00000223114.4	37	c.974C>T	CCDS5714.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	0.090|0.090	-1.168516|-1.168516	0.01660|0.01660	.|.	.|.	ENSG00000106384|ENSG00000106384	ENST00000440203|ENST00000379423	T|T	0.26660|0.31769	1.72|1.48	5.01|5.01	-8.43|-8.43	0.00953|0.00953	.|.	1.113110|.	0.06671|.	N|.	0.766276|.	T|T	0.18759|0.18759	0.0450|0.0450	.|.	.|.	.|.	0.19945|0.19945	N|N	0.999944|0.999944	.|B	.|0.02656	.|0.0	.|B	.|0.01281	.|0.0	T|T	0.29458|0.29458	-1.0011|-1.0011	7|8	0.44086|0.87932	T|D	0.13|0	-25.7954|-25.7954	6.2909|6.2909	0.21059|0.21059	0.3673:0.1912:0.381:0.0605|0.3673:0.1912:0.381:0.0605	.|.	.|229	.|Q86VF5-2	.|.	L|C	325|229	ENSP00000403756:P325L|ENSP00000368734:R229C	ENSP00000403756:P325L|ENSP00000368734:R229C	P|R	-|-	2|1	0|0	MOGAT3|MOGAT3	100626085|100626085	0.000000|0.000000	0.05858|0.05858	0.008000|0.008000	0.14137|0.14137	0.074000|0.074000	0.17049|0.17049	-10.653000|-10.653000	0.00005|0.00005	-3.319000|-3.319000	0.00188|0.00188	-4.341000|-4.341000	0.00007|0.00007	CCG|CGT		0.672	MOGAT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059649.3	NM_178176		8	8	0	0	0	1	0	8	8					A	100839365	G	A	100839365	2	1	435	1	0	0	0	0	0	0	0	1	9696	1103	39	2		2	MOGAT3	7	100839365	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	60323	100839365	58299298	3729	24654											
PLOD3	8985	broad.mit.edu	37	chr7	100859203	100859203	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ccctaccctcagtcctgggtCcaggtagagccgtgtgtaga	7	9	12	13	1	1	2	1	0	0	2	3	2	3	2	5	2	2	2	5	2	3	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:100859203C>T	ENST00000223127.3	-	5	999	c.601G>A	c.(601-603)Gac>Aac	p.D201N	ZNHIT1_ENST00000305105.2_5'Flank	NM_001084.4	NP_001075.1	O60568	PLOD3_HUMAN	procollagen-lysine, 2-oxoglutarate 5-dioxygenase 3	201					basement membrane assembly (GO:0070831)|cellular protein modification process (GO:0006464)|cellular response to hormone stimulus (GO:0032870)|collagen fibril organization (GO:0030199)|endothelial cell morphogenesis (GO:0001886)|epidermis morphogenesis (GO:0048730)|extracellular matrix organization (GO:0030198)|in utero embryonic development (GO:0001701)|lung morphogenesis (GO:0060425)|neural tube development (GO:0021915)|protein localization (GO:0008104)|vasodilation (GO:0042311)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|procollagen galactosyltransferase activity (GO:0050211)|procollagen glucosyltransferase activity (GO:0033823)|procollagen-lysine 5-dioxygenase activity (GO:0008475)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	31	Lung NSC(181;0.168)|all_lung(186;0.215)				Succinic acid(DB00139)|Vitamin C(DB00126)	AGTCCTGGGTCCAGGTAGAGC	0.587																																						ENST00000223127.3																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	31						c.(601-603)Gac>Aac		procollagen-lysine, 2-oxoglutarate 5-dioxygenase 3	Succinic acid(DB00139)|Vitamin C(DB00126)						115	104	108					7																	100859203		2203	4300	6503	SO:0001583	missense	8985				protein modification process	rough endoplasmic reticulum membrane	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein binding	g.chr7:100859203C>T	AF046889	CCDS5715.1	7q22.1	2011-08-24			ENSG00000106397	ENSG00000106397	1.14.11.4		9083	protein-coding gene	gene with protein product	"lysyl hydroxlase 3"	603066				9724729, 9582318	Standard	NM_001084		Approved	LH3	uc003uyd.3	O60568	OTTHUMG00000157111	ENST00000223127.3:c.601G>A	7.37:g.100859203C>T	ENSP00000223127:p.Asp201Asn						p.D201N	NM_001084.4	NP_001075.1	O60568	PLOD3_HUMAN			5	999	-	Lung NSC(181;0.168)|all_lung(186;0.215)		201					B2R6W6|Q540C3	Missense_Mutation	SNP	ENST00000223127.3	37	c.601G>A	CCDS5715.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	22.6|22.6	4.312017|4.312017	0.81358|0.81358	.|.	.|.	ENSG00000106397|ENSG00000106397	ENST00000223127;ENST00000541462|ENST00000421736	T|.	0.32753|.	1.44|.	5.09|5.09	4.2|4.2	0.49525|0.49525	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.62441|.	0.2428|.	M|M	0.64404|0.64404	1.975|1.975	0.58432|0.58432	D|D	0.999998|0.999998	D|.	0.54964|.	0.969|.	P|.	0.48770|.	0.589|.	T|.	0.60383|.	-0.7274|.	10|.	0.42905|.	T|.	0.14|.	-7.0308|-7.0308	9.297|9.297	0.37822|0.37822	0.0:0.9003:0.0:0.0997|0.0:0.9003:0.0:0.0997	.|.	201|.	O60568|.	PLOD3_HUMAN|.	N|X	201;105|33	ENSP00000223127:D201N|.	ENSP00000223127:D201N|.	D|W	-|-	1|3	0|0	PLOD3|PLOD3	100645923|100645923	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.958000|0.958000	0.62258|0.62258	7.208000|7.208000	0.77907|0.77907	1.134000|1.134000	0.42165|0.42165	0.561000|0.561000	0.74099|0.74099	GAC|TGG		0.587	PLOD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347470.1			10	19	0	0	0	1	0	10	19					T	100859203	C	T	100859203	3	4	435	1	0	0	0	0	1	0	0	0	12103	855	30	3	1675	3	PLOD3	7	100859203	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	19838	100859203	58279460	3730	24655											
EMID2	136227	broad.mit.edu	37	chr7	101063367	101063367	+	RNA	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccggtggccggggccctgcGccaacctcgtaaggtaaagg	7	5	16	13	4	0	0	0	0	0	0	1	0	0	0	5	6	2	2	5	6	4	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:101063367G>A	ENST00000397927.3	+	0	481				COL26A1_ENST00000313669.7_RNA|COL26A1_ENST00000528707.1_RNA	NM_001278563.1	NP_001265492.1	Q96A83	COQA1_HUMAN	collagen, type XXVI, alpha 1						collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)											GGGGCCCTGCGCCAACCTCGT	0.652																																						ENST00000313669.7																			0													collagen, type XXVI, alpha 1							30	39	36					7																	101063367		1993	4158	6151			136227							g.chr7:101063367G>A	AJ416091	CCDS64739.1	7q22.1	2013-01-16	2013-01-16	2013-01-16	ENSG00000160963	ENSG00000160963		"Collagens", "EMI domain containing"	18038	protein-coding gene	gene with protein product	"Emu2 gene"	608927	"EMI domain containing 2"	EMID2		12221002, 12145293	Standard	NM_001278563		Approved	Emu2, EMI6	uc003uyo.1	Q96A83	OTTHUMG00000150033		7.37:g.101063367G>A						COL26A1_ENST00000528707.1_RNA|COL26A1_ENST00000397927.3_RNA		NM_133457.2	NP_597714.2					0	460	+								Q32M90	RNA	SNP	ENST00000397927.3	37			.	.	.	.	.	.	.	.	.	.	G	11.35	1.613759	0.28712	.	.	ENSG00000160963	ENST00000313669	T	0.41400	1.0	4.95	2.78	0.32641	EMI domain (2);	0.447993	0.16437	N	0.214471	T	0.20740	0.0499	N	0.05031	-0.125	0.19945	N	0.999948	B;B	0.22211	0.066;0.066	B;B	0.17722	0.019;0.019	T	0.15435	-1.0437	10	0.35671	T	0.21	.	9.1777	0.37123	0.1937:0.0:0.8063:0.0	.	90;90	Q96A83;C9JPW4	EMID2_HUMAN;.	T	90	ENSP00000318234:A90T	ENSP00000318234:A90T	A	+	1	0	EMID2	100850087	0.954000	0.32549	0.927000	0.36925	0.954000	0.61252	1.556000	0.36288	0.986000	0.38683	0.558000	0.71614	GCC		0.652	COL26A1-002	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000315898.2	NM_133457		20	31	0	0	0	1	0	20	31					A	101063367	G	A	101063367	1	1	435	0	1	0	0	0	0	0	0	0	5092	1087	38	1		1	EMID2	7	101063367	RNA	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	204164	101063367	58075296	3731	24656											
CUX1	1523	broad.mit.edu	37	chr7	101926360	101926360	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cgagaatgacaacggggctgCggctggtgacttgtggcagt	8	8	17	8	3	0	3	0	2	0	1	0	4	0	3	0	5	2	3	0	5	2	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:101926360C>T	ENST00000437600.4	+	23	2361	c.2009C>T	c.(2008-2010)gCg>gTg	p.A670V	CUX1_ENST00000292538.4_Missense_Mutation_p.A672V|CUX1_ENST00000393824.3_Missense_Mutation_p.A633V|CUX1_ENST00000560541.1_3'UTR|SH2B2_ENST00000536178.1_5'Flank|CUX1_ENST00000547394.2_Missense_Mutation_p.A656V|CUX1_ENST00000425244.2_Missense_Mutation_p.A626V	NM_181500.2	NP_852477.1	P39880	CUX1_HUMAN	cut-like homeobox 1	0					auditory receptor cell differentiation (GO:0042491)|kidney development (GO:0001822)|lung development (GO:0030324)|multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of dendrite morphogenesis (GO:0050775)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|retrograde transport, vesicle recycling within Golgi (GO:0000301)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi membrane (GO:0000139)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding (GO:0043565)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						AACGGGGCTGCGGCTGGTGAC	0.622																																						ENST00000437600.4																			0				breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						c.(2008-2010)gCg>gTg		cut-like homeobox 1							89	76	80					7																	101926360		2203	4300	6503	SO:0001583	missense	1523				negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:101926360C>T	M74099	CCDS5720.1, CCDS5721.1, CCDS47672.1, CCDS56498.1, CCDS56499.1, CCDS56500.1, CCDS59071.1	7q22.1	2012-10-03	2007-11-07	2007-11-07	ENSG00000257923	ENSG00000257923		"Homeoboxes / CUT class"	2557	protein-coding gene	gene with protein product	"golgi integral membrane protein 6"	116896	"cut (Drosophila)-like 1 (CCAAT displacement protein)", "cut-like 1, CCAAT displacement protein (Drosophila)"	CUTL1		8468066, 9799793, 15004235	Standard	NM_001202543		Approved	CDP, CDP1, CUX, CUT, Clox, CDP/Cut, CDP/Cux, Cux/CDP, CASP, GOLIM6	uc003uyx.4	P39880	OTTHUMG00000157129	ENST00000437600.4:c.2009C>T	7.37:g.101926360C>T	ENSP00000414091:p.Ala670Val					CUX1_ENST00000560541.1_3'UTR|CUX1_ENST00000547394.2_Missense_Mutation_p.A656V|CUX1_ENST00000393824.3_Missense_Mutation_p.A633V|CUX1_ENST00000292538.4_Missense_Mutation_p.A672V|CUX1_ENST00000425244.2_Missense_Mutation_p.A626V	p.A670V	NM_181500.2	NP_852477.1	P39880	CUX1_HUMAN			23	2361	+			0					B3KV79|J3KQV9|Q6NYH4|Q75LE5|Q75MT2|Q75MT3|Q86UJ7|Q9UEV5	Missense_Mutation	SNP	ENST00000437600.4	37	c.2009C>T	CCDS47672.1	.	.	.	.	.	.	.	.	.	.	C	12.78	2.039815	0.35989	.	.	ENSG00000257923	ENST00000292538;ENST00000547394;ENST00000425244;ENST00000437600	T;T;T;T	0.29655	1.56;1.56;1.56;1.56	2.66	1.72	0.24424	.	.	.	.	.	T	0.26593	0.0650	N	0.14661	0.345	0.09310	N	1	D;D;D;B;D	0.71674	0.997;0.997;0.998;0.354;0.993	P;P;P;B;P	0.56612	0.689;0.689;0.802;0.061;0.561	T	0.11542	-1.0583	9	0.30854	T	0.27	.	7.2608	0.26201	0.0:0.7235:0.2765:0.0	.	633;626;656;670;672	B4DZZ2;B3KV79;G3V1Z6;Q13948-2;Q13948	.;.;.;.;CASP_HUMAN	V	672;656;626;670	ENSP00000292538:A672V;ENSP00000449371:A656V;ENSP00000409745:A626V;ENSP00000414091:A670V	ENSP00000292538:A672V	A	+	2	0	CUX1	101713080	0.098000	0.21812	0.007000	0.13788	0.120000	0.20174	0.905000	0.28504	0.654000	0.30846	0.561000	0.74099	GCG		0.622	CUX1-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000347534.3	NM_001913		5	9	0	0	0	1	0	5	9					T	101926360	C	T	101926360	3	4	435	1	0	0	0	0	1	0	0	0	4064	768	27	1	5475	1	CUX1	7	101926360	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	862993	101926360	57212303	3732	24657											
SH2B2	10603	broad.mit.edu	37	chr7	101960818	101960818	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cacctgcgcctgtccctgaaCggccacggccagtgtcacgt	6	7	11	17	4	1	1	1	1	0	0	2	1	2	1	5	2	2	0	5	2	1	0	rs371577042		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:101960818C>T	ENST00000536178.1	+	9	1578	c.1533C>T	c.(1531-1533)aaC>aaT	p.N511N	SH2B2_ENST00000306803.8_Silent_p.N471N			O14492	SH2B2_HUMAN	SH2B adaptor protein 2	472	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191, ECO:0000305}.				actin cytoskeleton organization (GO:0030036)|antigen receptor-mediated signaling pathway (GO:0050851)|B-1 B cell homeostasis (GO:0001922)|blood coagulation (GO:0007596)|brown fat cell differentiation (GO:0050873)|cytokine-mediated signaling pathway (GO:0019221)|insulin receptor signaling pathway (GO:0008286)|intracellular signal transduction (GO:0035556)|nervous system development (GO:0007399)|regulation of JAK-STAT cascade (GO:0046425)|regulation of metabolic process (GO:0019222)|regulation of Ras protein signal transduction (GO:0046578)|signal transduction (GO:0007165)	actin filament (GO:0005884)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|stress fiber (GO:0001725)	JAK pathway signal transduction adaptor activity (GO:0008269)|SH3/SH2 adaptor activity (GO:0005070)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)	9						TGTCCCTGAACGGCCACGGCC	0.637																																						ENST00000536178.1																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)	9						c.(1531-1533)aaC>aaT		SH2B adaptor protein 2		C		0,4318		0,0,2159	62	68	66		1296	-2.9	1	7		66	1,8501		0,1,4250	no	coding-synonymous	SH2B2	NM_020979.3		0,1,6409	TT,TC,CC		0.0118,0.0,0.0078		432/593	101960818	1,12819	2159	4251	6410	SO:0001819	synonymous_variant	10603				blood coagulation|insulin receptor signaling pathway|intracellular signal transduction	cytosol|plasma membrane	JAK pathway signal transduction adaptor activity|SH3/SH2 adaptor activity|signal transducer activity	g.chr7:101960818C>T	AB000520		7q22.1	2013-02-14			ENSG00000160999	ENSG00000160999		"Pleckstrin homology (PH) domain containing", "SH2 domain containing"	17381	protein-coding gene	gene with protein product	"adaptor protein with pleckstrin homology and src"	605300				9233773	Standard	XM_005276976		Approved	APS	uc011kko.2	O14492	OTTHUMG00000150652	ENST00000536178.1:c.1533C>T	7.37:g.101960818C>T						SH2B2_ENST00000306803.8_Silent_p.N471N	p.N511N			O14492	SH2B2_HUMAN			9	1578	+			472			SH2.		A6ND74	Silent	SNP	ENST00000536178.1	37	c.1533C>T		.	.	.	.	.	.	.	.	.	.	.	9.967	1.224457	0.22457	0.0	1.18E-4	ENSG00000160999	ENST00000432527	.	.	.	4.57	-2.92	0.05615	.	.	.	.	.	T	0.48714	0.1515	.	.	.	0.30974	N	0.7227589999999999	.	.	.	.	.	.	T	0.56631	-0.7947	3	.	.	.	-26.3054	12.5741	0.56354	0.0:0.292:0.0:0.708	.	.	.	.	M	77	.	.	T	+	2	0	SH2B2	101747538	0.001000	0.12720	0.977000	0.42913	0.995000	0.86356	-1.728000	0.01858	-0.623000	0.05618	-0.119000	0.15052	ACG		0.637	SH2B2-202	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_020979		22	38	0	0	0	1	0	22	38					T	101960818	C	T	101960818	2	4	435	1	0	0	0	0	0	0	0	1	14228	535	19	1		1	SH2B2	7	101960818	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	34458	101960818	57177845	3733	24658											
ORAI2	80228	broad.mit.edu	37	chr7	102087259	102087259	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctggatcaagttcctcccCgtggatgcccggcgccagcc	5	8	12	16	3	1	0	1	0	0	0	3	2	3	2	6	3	3	2	6	3	1	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:102087259C>T	ENST00000356387.2	+	4	760	c.525C>T	c.(523-525)ccC>ccT	p.P175P	ORAI2_ENST00000488996.1_3'UTR|ORAI2_ENST00000473939.1_Silent_p.P175P|ORAI2_ENST00000403646.3_Silent_p.P175P|ORAI2_ENST00000478730.2_Silent_p.P175P	NM_001126340.1|NM_001271818.1|NM_001271819.1|NM_032831.3	NP_001119812.1|NP_001258747.1|NP_001258748.1|NP_116220.1	Q96SN7	ORAI2_HUMAN	ORAI calcium release-activated calcium modulator 2	175						growth cone (GO:0030426)|integral component of membrane (GO:0016021)				autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(1)|lung(4)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	15						AGTTCCTCCCCGTGGATGCCC	0.682																																						ENST00000356387.2																			0				autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(1)|lung(4)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	15						c.(523-525)ccC>ccT		ORAI calcium release-activated calcium modulator 2							98	103	101					7																	102087259		2203	4300	6503	SO:0001819	synonymous_variant	80228					integral to membrane	protein binding	g.chr7:102087259C>T	AF258552	CCDS5722.1	7q22.1	2007-08-14	2007-08-14	2007-08-14	ENSG00000160991	ENSG00000160991		"ORAI calcium release-activated calcium modulators"	21667	protein-coding gene	gene with protein product	"CAP-binding protein complex interacting protein 2"	610929	"chromosome 7 open reading frame 19", "transmembrane protein 142B"	C7orf19, TMEM142B		16582901	Standard	NM_001126340		Approved	CBCIP2, FLJ12474, FLJ14733, H_NH0514P08.8	uc003uzj.3	Q96SN7	OTTHUMG00000157722	ENST00000356387.2:c.525C>T	7.37:g.102087259C>T						ORAI2_ENST00000478730.1_Silent_p.P175P|ORAI2_ENST00000403646.3_Silent_p.P175P|ORAI2_ENST00000473939.1_Silent_p.P175P|ORAI2_ENST00000488996.1_3'UTR	p.P175P	NM_001126340.1|NM_001271818.1|NM_001271819.1|NM_032831.3	NP_001119812.1|NP_001258747.1|NP_001258748.1|NP_116220.1	Q96SN7	ORAI2_HUMAN			4	760	+			175					Q6IA68|Q8WY94|Q9H9Y3	Silent	SNP	ENST00000356387.2	37	c.525C>T	CCDS5722.1																																																																																				0.682	ORAI2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349509.2	NM_032831		12	59	0	0	0	1	0	12	59					T	102087259	C	T	102087259	2	4	435	1	0	0	0	0	0	0	0	1	11258	639	23	2		2	ORAI2	7	102087259	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	126441	102087259	57051404	3734	24659											
ALKBH4	54784	broad.mit.edu	37	chr7	102098266	102098266	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggggtcaatggcagagccccGctcggggcagtagtccaggt	7	6	17	11	2	1	1	1	0	0	1	3	1	2	1	3	6	1	4	3	6	2	1	rs372884323		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:102098266G>A	ENST00000292566.3	-	3	523	c.484C>T	c.(484-486)Cgg>Tgg	p.R162W		NM_017621.3	NP_060091.1	Q9NXW9	ALKB4_HUMAN	alkB, alkylation repair homolog 4 (E. coli)	162					actomyosin structure organization (GO:0031032)|cleavage furrow ingression (GO:0036090)|protein demethylation (GO:0006482)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	contractile ring (GO:0070938)|cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleus (GO:0005634)	actin binding (GO:0003779)|demethylase activity (GO:0032451)|metal ion binding (GO:0046872)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)			kidney(1)|lung(5)|skin(2)	8						GCAGAGCCCCGCTCGGGGCAG	0.701													G|||	1	0.000199681	0	0	5008	,	,		14501	0.001		0	False		,,,				2504	0					ENST00000292566.3																			0				kidney(1)|lung(5)|skin(2)	8						c.(484-486)Cgg>Tgg		alkB, alkylation repair homolog 4 (E. coli)		G	TRP/ARG	0,4396		0,0,2198	15	16	16		484	1.8	0.4	7		16	1,8567		0,1,4283	no	missense	ALKBH4	NM_017621.3	101	0,1,6481	AA,AG,GG		0.0117,0.0,0.0077	probably-damaging	162/303	102098266	1,12963	2198	4284	6482	SO:0001583	missense	54784					cytoplasm|nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr7:102098266G>A	BC017096	CCDS5723.1	7q22.1	2006-02-09			ENSG00000160993	ENSG00000160993		"Alkylation repair homologs"	21900	protein-coding gene	gene with protein product		613302					Standard	NM_017621		Approved	FLJ20013	uc003uzl.3	Q9NXW9	OTTHUMG00000157720	ENST00000292566.3:c.484C>T	7.37:g.102098266G>A	ENSP00000292566:p.Arg162Trp						p.R162W	NM_017621.3	NP_060091.1	Q9NXW9	ALKB4_HUMAN			3	523	-			162					Q53H92|Q9H6A4	Missense_Mutation	SNP	ENST00000292566.3	37	c.484C>T	CCDS5723.1	.	.	.	.	.	.	.	.	.	.	G	15.48	2.847517	0.51164	0.0	1.17E-4	ENSG00000160993	ENST00000292566	T	0.14391	2.51	4.56	1.79	0.24919	Oxoglutarate/iron-dependent oxygenase (1);	0.000000	0.85682	D	0.000000	T	0.35335	0.0928	M	0.88105	2.93	0.58432	D	0.99999	D	0.89917	1.0	D	0.97110	1.0	T	0.05022	-1.0911	10	0.87932	D	0	-10.2001	3.6789	0.08302	0.2693:0.0:0.4749:0.2558	.	162	Q9NXW9	ALKB4_HUMAN	W	162	ENSP00000292566:R162W	ENSP00000292566:R162W	R	-	1	2	ALKBH4	101885271	1.000000	0.71417	0.370000	0.25965	0.714000	0.41099	1.457000	0.35212	0.189000	0.20188	-0.258000	0.10820	CGG		0.701	ALKBH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349503.1	NM_017621		10	12	0	0	0	1	0	10	12					A	102098266	G	A	102098266	3	1	435	1	0	0	0	0	1	0	0	0	529	1086	38	1	428	1	ALKBH4	7	102098266	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	11007	102098266	57040397	3735	24660											
ALKBH4	54784	broad.mit.edu	37	chr7	102100195	102100195	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagccctcaaagtcagactcCtctgtgcccacggcccagcc	8	6	8	19	1	3	1	2	0	1	1	4	1	4	1	5	1	3	0	5	1	1	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:102100195C>T	ENST00000292566.3	-	2	216	c.177G>A	c.(175-177)gaG>gaA	p.E59E		NM_017621.3	NP_060091.1	Q9NXW9	ALKB4_HUMAN	alkB, alkylation repair homolog 4 (E. coli)	59					actomyosin structure organization (GO:0031032)|cleavage furrow ingression (GO:0036090)|protein demethylation (GO:0006482)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	contractile ring (GO:0070938)|cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleus (GO:0005634)	actin binding (GO:0003779)|demethylase activity (GO:0032451)|metal ion binding (GO:0046872)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)			kidney(1)|lung(5)|skin(2)	8						AGTCAGACTCCTCTGTGCCCA	0.577																																						ENST00000292566.3																			0				kidney(1)|lung(5)|skin(2)	8						c.(175-177)gaG>gaA		alkB, alkylation repair homolog 4 (E. coli)							81	76	78					7																	102100195		2203	4300	6503	SO:0001819	synonymous_variant	54784					cytoplasm|nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr7:102100195C>T	BC017096	CCDS5723.1	7q22.1	2006-02-09			ENSG00000160993	ENSG00000160993		"Alkylation repair homologs"	21900	protein-coding gene	gene with protein product		613302					Standard	NM_017621		Approved	FLJ20013	uc003uzl.3	Q9NXW9	OTTHUMG00000157720	ENST00000292566.3:c.177G>A	7.37:g.102100195C>T							p.E59E	NM_017621.3	NP_060091.1	Q9NXW9	ALKB4_HUMAN			2	216	-			59					Q53H92|Q9H6A4	Silent	SNP	ENST00000292566.3	37	c.177G>A	CCDS5723.1																																																																																				0.577	ALKBH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349503.1	NM_017621		13	30	0	0	0	1	0	13	30					T	102100195	C	T	102100195	2	4	435	1	0	0	0	0	0	0	0	1	529	680	24	3		3	ALKBH4	7	102100195	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	1929	102100195	57038468	3736	24661											
LRWD1	222229	broad.mit.edu	37	chr7	102106412	102106412	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acctgcgtgtcctccgctgcGccaacaaccagctgggggat	7	7	12	15	3	0	0	0	0	0	0	2	1	2	1	5	2	5	2	5	2	2	0	rs139115115		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:102106412G>A	ENST00000292616.5	+	2	381	c.229G>A	c.(229-231)Gcc>Acc	p.A77T	ALKBH4_ENST00000292566.3_5'Flank|MIR5090_ENST00000582533.1_RNA	NM_152892.1	NP_690852.1	Q9UFC0	LRWD1_HUMAN	leucine-rich repeats and WD repeat domain containing 1	77					chromatin modification (GO:0016568)|chromatin organization (GO:0006325)|DNA replication initiation (GO:0006270)|establishment of protein localization to chromatin (GO:0071169)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nuclear origin of replication recognition complex (GO:0005664)|nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)|telomeric heterochromatin (GO:0031933)	chromatin binding (GO:0003682)|methyl-CpG binding (GO:0008327)|methylated histone binding (GO:0035064)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|skin(1)|stomach(2)	20						CCTCCGCTGCGCCAACAACCA	0.632													G|||	1	0.000199681	0	0	5008	,	,		19359	0		0.001	False		,,,				2504	0					ENST00000292616.5																			0				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|skin(1)|stomach(2)	20						c.(229-231)Gcc>Acc		leucine-rich repeats and WD repeat domain containing 1		G	THR/ALA	0,4406		0,0,2203	47	47	47		229	1	0.3	7	dbSNP_134	47	1,8599	1.2+/-3.3	0,1,4299	no	missense	LRWD1	NM_152892.1	58	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	77/648	102106412	1,13005	2203	4300	6503	SO:0001583	missense	222229				chromatin modification|DNA-dependent DNA replication initiation|establishment of protein localization to chromatin|G1 phase of mitotic cell cycle	centromeric heterochromatin|nuclear origin of replication recognition complex|telomeric heterochromatin	chromatin binding|methyl-CpG binding|methylated histone residue binding	g.chr7:102106412G>A	AL133057	CCDS34715.1	7q22.1	2013-01-10			ENSG00000161036	ENSG00000161036		"WD repeat domain containing"	21769	protein-coding gene	gene with protein product	"origin recognition complex associated", "centromere protein 33"	615167				20932478, 20850016, 20180869	Standard	NM_152892		Approved	DKFZp434K1815, ORCA, CENP-33	uc003uzn.3	Q9UFC0	OTTHUMG00000157718	ENST00000292616.5:c.229G>A	7.37:g.102106412G>A	ENSP00000292616:p.Ala77Thr						p.A77T	NM_152892.1	NP_690852.1	Q9UFC0	LRWD1_HUMAN			2	381	+			77					A8K4K2|B2R9G2|Q8N0T9|Q8WV43|Q96GJ2	Missense_Mutation	SNP	ENST00000292616.5	37	c.229G>A	CCDS34715.1	.	.	.	.	.	.	.	.	.	.	G	8.154	0.788012	0.16258	0.0	1.16E-4	ENSG00000161036	ENST00000292616	T	0.56941	0.43	5.19	1.01	0.19927	.	0.552734	0.20764	N	0.086110	T	0.28599	0.0708	N	0.19112	0.55	0.26541	N	0.974076	B	0.11235	0.004	B	0.06405	0.002	T	0.10520	-1.0626	10	0.16896	T	0.51	-26.7686	4.769	0.13146	0.2249:0.0:0.4959:0.2792	.	77	Q9UFC0	LRWD1_HUMAN	T	77	ENSP00000292616:A77T	ENSP00000292616:A77T	A	+	1	0	LRWD1	101893417	0.010000	0.17322	0.279000	0.24732	0.924000	0.55760	0.289000	0.18957	0.542000	0.28846	0.561000	0.74099	GCC		0.632	LRWD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349493.1	NM_152892		3	20	0	0	0	1	0	3	20					A	102106412	G	A	102106412	3	1	435	1	0	0	0	0	1	0	0	0	9047	1087	38	1	235	1	LRWD1	7	102106412	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	6217	102106412	57032251	3737	24662											
FBXL13	222235	broad.mit.edu	37	chr7	102453883	102453883	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgttgtcaagctctgtaacaGggtttccttccctatcatag	8	15	8	10	0	3	0	2	0	1	0	5	0	5	0	2	1	2	4	2	1	4	6			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:102453883G>T	ENST00000313221.4	-	20	2540	c.2114C>A	c.(2113-2115)cCt>cAt	p.P705H	FBXL13_ENST00000379308.3_Missense_Mutation_p.P660H|FBXL13_ENST00000393772.2_Missense_Mutation_p.P677H|FBXL13_ENST00000379305.3_Missense_Mutation_p.P677H|FBXL13_ENST00000455112.2_Missense_Mutation_p.P660H|FBXL13_ENST00000379306.3_Missense_Mutation_p.P423H|FBXL13_ENST00000456695.1_Missense_Mutation_p.P423H|FBXL13_ENST00000436908.1_Missense_Mutation_p.P705H	NM_145032.3	NP_659469.3	Q8NEE6	FXL13_HUMAN	F-box and leucine-rich repeat protein 13	705										NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|skin(3)|stomach(1)	27						CTCTGTAACAGGGTTTCCTTC	0.428																																						ENST00000393772.2																			0				NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|skin(3)|stomach(1)	27						c.(2029-2031)cCt>cAt		F-box and leucine-rich repeat protein 13							303	259	274					7																	102453883		2203	4300	6503	SO:0001583	missense	222235							g.chr7:102453883G>T	BC031285	CCDS5726.1, CCDS47678.1, CCDS75649.1	7q22.1	2014-07-18			ENSG00000161040	ENSG00000161040		"F-boxes / Leucine-rich repeats"	21658	protein-coding gene	gene with protein product		609080					Standard	NM_145032		Approved	MGC21636, Fbl13	uc003vaq.2	Q8NEE6	OTTHUMG00000157224	ENST00000313221.4:c.2114C>A	7.37:g.102453883G>T	ENSP00000321927:p.Pro705His					FBXL13_ENST00000456695.1_Missense_Mutation_p.P423H|FBXL13_ENST00000455112.2_Missense_Mutation_p.P660H|FBXL13_ENST00000436908.1_Missense_Mutation_p.P705H|FBXL13_ENST00000379305.3_Missense_Mutation_p.P677H|FBXL13_ENST00000379306.3_Missense_Mutation_p.P423H|FBXL13_ENST00000379308.3_Missense_Mutation_p.P660H|FBXL13_ENST00000313221.4_Missense_Mutation_p.P705H	p.P677H			Q8NEE6	FXL13_HUMAN			19	2456	-			705					C9J565|C9J566|Q6UVW7|Q6UVW8|Q75MN5|Q86UJ5|Q8N7Y4|Q8TCL2|Q8WUF9|Q8WUG0	Missense_Mutation	SNP	ENST00000313221.4	37	c.2030C>A	CCDS5726.1	.	.	.	.	.	.	.	.	.	.	G	15.39	2.820005	0.50633	.	.	ENSG00000161040	ENST00000393772;ENST00000379308;ENST00000379306;ENST00000349747;ENST00000379305;ENST00000436908;ENST00000313221;ENST00000456695;ENST00000455112	T;T;T;T;T;T;T;T	0.09630	3.13;3.05;2.96;3.13;3.22;3.22;2.96;3.05	5.79	-1.09	0.09904	.	0.942056	0.08835	N	0.886664	T	0.15652	0.0377	L	0.57536	1.79	0.09310	N	1	D;P;D;D	0.61080	0.969;0.799;0.989;0.98	P;P;P;P	0.53313	0.634;0.545;0.723;0.635	T	0.18209	-1.0344	10	0.72032	D	0.01	.	1.9713	0.03406	0.2948:0.2362:0.3595:0.1095	.	660;423;677;705	Q8NEE6-3;Q8NEE6-4;Q8NEE6-2;Q8NEE6	.;.;.;FXL13_HUMAN	H	677;660;423;426;677;705;705;423;660	ENSP00000377367:P677H;ENSP00000368610:P660H;ENSP00000368608:P423H;ENSP00000368607:P677H;ENSP00000388608:P705H;ENSP00000321927:P705H;ENSP00000409716:P423H;ENSP00000391550:P660H	ENSP00000321927:P705H	P	-	2	0	FBXL13	102241119	0.344000	0.24827	0.000000	0.03702	0.004000	0.04260	0.081000	0.14823	-0.120000	0.11809	-0.195000	0.12781	CCT		0.428	FBXL13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348001.1	NM_145032		43	65	1	0	2.40228e-13	1	2.60856e-13	43	65					T	102453883	G	T	102453883	3	4	435	1	0	0	0	0	1	0	0	0	5709	1000	35	5	97	5	FBXL13	7	102453883	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	347471	102453883	56684780	3738	24663											
RELN	5649	broad.mit.edu	37	chr7	103126834	103126834	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atctttaatataactgggaaGgtcgtgactgaaaacagagc	15	10	10	6	1	1	3	0	2	1	1	2	4	1	4	0	2	3	0	0	2	6	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:103126834G>T	ENST00000428762.1	-	61	9952	c.9793C>A	c.(9793-9795)Ctt>Att	p.L3265I	RELN_ENST00000473945.1_5'Flank|RELN_ENST00000424685.2_Missense_Mutation_p.L3265I|CTB-107G13.1_ENST00000422488.1_RNA|RELN_ENST00000343529.5_Missense_Mutation_p.L3265I|RN7SKP86_ENST00000410454.1_RNA	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	3265					associative learning (GO:0008306)|axon guidance (GO:0007411)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|central nervous system development (GO:0007417)|cerebral cortex tangential migration (GO:0021800)|dendrite development (GO:0016358)|glial cell differentiation (GO:0010001)|hippocampus development (GO:0021766)|lateral motor column neuron migration (GO:0097477)|layer formation in cerebral cortex (GO:0021819)|long-term memory (GO:0007616)|N-methyl-D-aspartate receptor clustering (GO:0097114)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of lateral motor column neuron migration (GO:1902078)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of TOR signaling (GO:0032008)|postsynaptic density protein 95 clustering (GO:0097119)|receptor localization to synapse (GO:0097120)|reelin-mediated signaling pathway (GO:0038026)|regulation of behavior (GO:0050795)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of synaptic transmission (GO:0050804)|response to pain (GO:0048265)|spinal cord patterning (GO:0021511)|ventral spinal cord development (GO:0021517)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	lipoprotein particle receptor binding (GO:0070325)|metal ion binding (GO:0046872)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|serine-type peptidase activity (GO:0008236)|very-low-density lipoprotein particle receptor binding (GO:0070326)	p.L3265F(1)		NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		TAACTGGGAAGGTCGTGACTG	0.448																																					NSCLC(146;835 1944 15585 22231 52158)	ENST00000428762.1																			1	Substitution - Missense(1)	p.L3265F(1)	central_nervous_system(1)	NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227						c.(9793-9795)Ctt>Att		reelin							53	54	53					7																	103126834		2203	4300	6503	SO:0001583	missense	5649				axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity	g.chr7:103126834G>T		CCDS34722.1, CCDS47680.1	7q22	2008-07-18			ENSG00000189056	ENSG00000189056			9957	protein-coding gene	gene with protein product		600514				9049633	Standard	NM_005045		Approved	RL, PRO1598	uc010liz.3	P78509	OTTHUMG00000157247	ENST00000428762.1:c.9793C>A	7.37:g.103126834G>T	ENSP00000392423:p.Leu3265Ile					RELN_ENST00000343529.5_Missense_Mutation_p.L3265I|RELN_ENST00000424685.2_Missense_Mutation_p.L3265I|CTB-107G13.1_ENST00000422488.1_RNA	p.L3265I	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN		COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)	61	9952	-			3265					A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Missense_Mutation	SNP	ENST00000428762.1	37	c.9793C>A	CCDS47680.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.067219	0.76301	.	.	ENSG00000189056	ENST00000428762;ENST00000343529;ENST00000424685;ENST00000424828;ENST00000448171	T;T;T	0.29142	1.58;1.58;1.58	5.86	4.97	0.65823	.	0.071230	0.64402	D	0.000019	T	0.34716	0.0907	M	0.69823	2.125	0.53688	D	0.999978	P;B	0.37083	0.581;0.228	B;B	0.31751	0.135;0.071	T	0.33007	-0.9885	10	0.72032	D	0.01	.	16.343	0.83101	0.0:0.0:0.8668:0.1332	.	3265;3265	P78509-2;P78509	.;RELN_HUMAN	I	3265;3265;3265;782;3265	ENSP00000392423:L3265I;ENSP00000345694:L3265I;ENSP00000388446:L3265I	ENSP00000345694:L3265I	L	-	1	0	RELN	102914070	1.000000	0.71417	0.999000	0.59377	0.642000	0.38348	6.437000	0.73421	1.464000	0.47987	-0.181000	0.13052	CTT		0.448	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348148.1	NM_005045		16	34	1	0	1.02788e-11	1	1.10723e-11	16	34					T	103126834	G	T	103126834	3	4	435	1	0	0	0	0	1	0	0	0	13220	1000	35	5	609	5	RELN	7	103126834	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	672951	103126834	56011829	3739	24664											
RELN	5649	broad.mit.edu	37	chr7	103131217	103131217	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ggaactggaaaggggagcagCcaatgctgttagaagaggaa	15	5	16	5	0	0	2	0	0	0	2	0	6	0	6	1	5	4	3	1	5	6	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:103131217C>T	ENST00000428762.1	-	59	9662	c.9503G>A	c.(9502-9504)gGc>gAc	p.G3168D	RELN_ENST00000424685.2_Missense_Mutation_p.G3168D|CTB-107G13.1_ENST00000422488.1_RNA|RELN_ENST00000343529.5_Missense_Mutation_p.G3168D	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	3168					associative learning (GO:0008306)|axon guidance (GO:0007411)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|central nervous system development (GO:0007417)|cerebral cortex tangential migration (GO:0021800)|dendrite development (GO:0016358)|glial cell differentiation (GO:0010001)|hippocampus development (GO:0021766)|lateral motor column neuron migration (GO:0097477)|layer formation in cerebral cortex (GO:0021819)|long-term memory (GO:0007616)|N-methyl-D-aspartate receptor clustering (GO:0097114)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of lateral motor column neuron migration (GO:1902078)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of TOR signaling (GO:0032008)|postsynaptic density protein 95 clustering (GO:0097119)|receptor localization to synapse (GO:0097120)|reelin-mediated signaling pathway (GO:0038026)|regulation of behavior (GO:0050795)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of synaptic transmission (GO:0050804)|response to pain (GO:0048265)|spinal cord patterning (GO:0021511)|ventral spinal cord development (GO:0021517)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	lipoprotein particle receptor binding (GO:0070325)|metal ion binding (GO:0046872)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|serine-type peptidase activity (GO:0008236)|very-low-density lipoprotein particle receptor binding (GO:0070326)			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		AGGGGAGCAGCCAATGCTGTT	0.488																																					NSCLC(146;835 1944 15585 22231 52158)	ENST00000428762.1																			0				NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227						c.(9502-9504)gGc>gAc		reelin							112	103	106					7																	103131217		2203	4300	6503	SO:0001583	missense	5649				axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity	g.chr7:103131217C>T		CCDS34722.1, CCDS47680.1	7q22	2008-07-18			ENSG00000189056	ENSG00000189056			9957	protein-coding gene	gene with protein product		600514				9049633	Standard	NM_005045		Approved	RL, PRO1598	uc010liz.3	P78509	OTTHUMG00000157247	ENST00000428762.1:c.9503G>A	7.37:g.103131217C>T	ENSP00000392423:p.Gly3168Asp					RELN_ENST00000343529.5_Missense_Mutation_p.G3168D|RELN_ENST00000424685.2_Missense_Mutation_p.G3168D|CTB-107G13.1_ENST00000422488.1_RNA	p.G3168D	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN		COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)	59	9662	-			3168					A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Missense_Mutation	SNP	ENST00000428762.1	37	c.9503G>A	CCDS47680.1	.	.	.	.	.	.	.	.	.	.	C	25.7	4.661716	0.88154	.	.	ENSG00000189056	ENST00000428762;ENST00000343529;ENST00000424685;ENST00000424828;ENST00000448171	T;T;T	0.21932	1.98;1.98;1.98	5.74	5.74	0.90152	.	0.000000	0.85682	D	0.000000	T	0.23054	0.0557	N	0.17082	0.46	0.80722	D	1	P;P	0.36909	0.542;0.573	P;P	0.45794	0.493;0.464	T	0.03364	-1.1044	10	0.30078	T	0.28	.	19.918	0.97070	0.0:1.0:0.0:0.0	.	3168;3168	P78509-2;P78509	.;RELN_HUMAN	D	3168;3168;3168;685;3168	ENSP00000392423:G3168D;ENSP00000345694:G3168D;ENSP00000388446:G3168D	ENSP00000345694:G3168D	G	-	2	0	RELN	102918453	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	7.280000	0.78610	2.706000	0.92434	0.650000	0.86243	GGC		0.488	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348148.1	NM_005045		30	33	0	0	0	1	0	30	33					T	103131217	C	T	103131217	3	4	435	1	0	0	0	0	1	0	0	0	13220	739	26	3	907	3	RELN	7	103131217	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	4383	103131217	56007446	3740	24665											
RELN	5649	broad.mit.edu	37	chr7	103143553	103143553	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gctgagaaacacttccagagCattttgggtcagcaggcaag	12	8	12	9	0	1	2	1	1	0	2	2	3	2	2	1	2	3	4	1	2	2	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:103143553C>T	ENST00000428762.1	-	52	8558	c.8399G>A	c.(8398-8400)tGc>tAc	p.C2800Y	RELN_ENST00000424685.2_Missense_Mutation_p.C2800Y|CTB-107G13.1_ENST00000422488.1_RNA|RELN_ENST00000343529.5_Missense_Mutation_p.C2800Y	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	2800					associative learning (GO:0008306)|axon guidance (GO:0007411)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|central nervous system development (GO:0007417)|cerebral cortex tangential migration (GO:0021800)|dendrite development (GO:0016358)|glial cell differentiation (GO:0010001)|hippocampus development (GO:0021766)|lateral motor column neuron migration (GO:0097477)|layer formation in cerebral cortex (GO:0021819)|long-term memory (GO:0007616)|N-methyl-D-aspartate receptor clustering (GO:0097114)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of lateral motor column neuron migration (GO:1902078)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of TOR signaling (GO:0032008)|postsynaptic density protein 95 clustering (GO:0097119)|receptor localization to synapse (GO:0097120)|reelin-mediated signaling pathway (GO:0038026)|regulation of behavior (GO:0050795)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of synaptic transmission (GO:0050804)|response to pain (GO:0048265)|spinal cord patterning (GO:0021511)|ventral spinal cord development (GO:0021517)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	lipoprotein particle receptor binding (GO:0070325)|metal ion binding (GO:0046872)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|serine-type peptidase activity (GO:0008236)|very-low-density lipoprotein particle receptor binding (GO:0070326)			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		ACTTCCAGAGCATTTTGGGTC	0.433																																					NSCLC(146;835 1944 15585 22231 52158)	ENST00000428762.1																			0				NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227						c.(8398-8400)tGc>tAc		reelin							87	83	84					7																	103143553		2203	4300	6503	SO:0001583	missense	5649				axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity	g.chr7:103143553C>T		CCDS34722.1, CCDS47680.1	7q22	2008-07-18			ENSG00000189056	ENSG00000189056			9957	protein-coding gene	gene with protein product		600514				9049633	Standard	NM_005045		Approved	RL, PRO1598	uc010liz.3	P78509	OTTHUMG00000157247	ENST00000428762.1:c.8399G>A	7.37:g.103143553C>T	ENSP00000392423:p.Cys2800Tyr					RELN_ENST00000343529.5_Missense_Mutation_p.C2800Y|RELN_ENST00000424685.2_Missense_Mutation_p.C2800Y|CTB-107G13.1_ENST00000422488.1_RNA	p.C2800Y	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN		COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)	52	8558	-			2800					A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Missense_Mutation	SNP	ENST00000428762.1	37	c.8399G>A	CCDS47680.1	.	.	.	.	.	.	.	.	.	.	C	23.8	4.456712	0.84317	.	.	ENSG00000189056	ENST00000428762;ENST00000343529;ENST00000424685;ENST00000424828;ENST00000448171	T;T;T	0.33216	1.42;1.42;1.42	5.13	5.13	0.70059	Neuraminidase (3);	0.157203	0.56097	D	0.000030	T	0.57036	0.2026	M	0.69523	2.12	0.80722	D	1	D;D	0.76494	0.999;0.989	D;P	0.87578	0.998;0.884	T	0.59600	-0.7424	10	0.56958	D	0.05	.	18.5938	0.91223	0.0:1.0:0.0:0.0	.	2800;2800	P78509-2;P78509	.;RELN_HUMAN	Y	2800;2800;2800;317;2800	ENSP00000392423:C2800Y;ENSP00000345694:C2800Y;ENSP00000388446:C2800Y	ENSP00000345694:C2800Y	C	-	2	0	RELN	102930789	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.155000	0.77445	2.375000	0.81037	0.655000	0.94253	TGC		0.433	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348148.1	NM_005045		7	55	0	0	0	1	0	7	55					T	103143553	C	T	103143553	3	4	435	1	0	0	0	0	1	0	0	0	13220	710	25	3	2039	3	RELN	7	103143553	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	12336	103143553	55995110	3741	24666											
RELN	5649	broad.mit.edu	37	chr7	103191624	103191624	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggagcataaagagctgacGtggctgctgctgtggtagca	9	9	16	7	1	0	2	0	1	0	1	0	3	0	3	0	3	5	7	0	3	3	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:103191624G>A	ENST00000428762.1	-	41	6351	c.6192C>T	c.(6190-6192)caC>caT	p.H2064H	RELN_ENST00000424685.2_Silent_p.H2064H|RELN_ENST00000343529.5_Silent_p.H2064H	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	2064					associative learning (GO:0008306)|axon guidance (GO:0007411)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|central nervous system development (GO:0007417)|cerebral cortex tangential migration (GO:0021800)|dendrite development (GO:0016358)|glial cell differentiation (GO:0010001)|hippocampus development (GO:0021766)|lateral motor column neuron migration (GO:0097477)|layer formation in cerebral cortex (GO:0021819)|long-term memory (GO:0007616)|N-methyl-D-aspartate receptor clustering (GO:0097114)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of lateral motor column neuron migration (GO:1902078)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of TOR signaling (GO:0032008)|postsynaptic density protein 95 clustering (GO:0097119)|receptor localization to synapse (GO:0097120)|reelin-mediated signaling pathway (GO:0038026)|regulation of behavior (GO:0050795)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of synaptic transmission (GO:0050804)|response to pain (GO:0048265)|spinal cord patterning (GO:0021511)|ventral spinal cord development (GO:0021517)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	lipoprotein particle receptor binding (GO:0070325)|metal ion binding (GO:0046872)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|serine-type peptidase activity (GO:0008236)|very-low-density lipoprotein particle receptor binding (GO:0070326)			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		AAGAGCTGACGTGGCTGCTGC	0.602																																					NSCLC(146;835 1944 15585 22231 52158)	ENST00000424685.2																			0				NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227						c.(6190-6192)caC>caT		reelin							76	56	63					7																	103191624		2203	4300	6503	SO:0001819	synonymous_variant	5649				axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity	g.chr7:103191624G>A		CCDS34722.1, CCDS47680.1	7q22	2008-07-18			ENSG00000189056	ENSG00000189056			9957	protein-coding gene	gene with protein product		600514				9049633	Standard	NM_005045		Approved	RL, PRO1598	uc010liz.3	P78509	OTTHUMG00000157247	ENST00000428762.1:c.6192C>T	7.37:g.103191624G>A						RELN_ENST00000343529.5_Silent_p.H2064H|RELN_ENST00000428762.1_Silent_p.H2064H	p.H2064H			P78509	RELN_HUMAN		COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)	41	6351	-			2064					A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Silent	SNP	ENST00000428762.1	37	c.6192C>T	CCDS47680.1																																																																																				0.602	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348148.1	NM_005045		12	17	0	0	0	1	0	12	17					A	103191624	G	A	103191624	2	1	435	1	0	0	0	0	0	0	0	1	13220	1136	40	1		1	RELN	7	103191624	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	48071	103191624	55947039	3742	24667											
RELN	5649	broad.mit.edu	37	chr7	103191670	103191670	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagcagaaggtgccaggtcGccccgaagtcccttgaaaat	11	6	12	12	2	0	2	0	1	0	1	2	3	1	2	4	2	2	2	4	2	4	1	rs374232523		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:103191670G>A	ENST00000428762.1	-	41	6305	c.6146C>T	c.(6145-6147)gCg>gTg	p.A2049V	RELN_ENST00000424685.2_Missense_Mutation_p.A2049V|RELN_ENST00000343529.5_Missense_Mutation_p.A2049V	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	2049					associative learning (GO:0008306)|axon guidance (GO:0007411)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|central nervous system development (GO:0007417)|cerebral cortex tangential migration (GO:0021800)|dendrite development (GO:0016358)|glial cell differentiation (GO:0010001)|hippocampus development (GO:0021766)|lateral motor column neuron migration (GO:0097477)|layer formation in cerebral cortex (GO:0021819)|long-term memory (GO:0007616)|N-methyl-D-aspartate receptor clustering (GO:0097114)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of lateral motor column neuron migration (GO:1902078)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of TOR signaling (GO:0032008)|postsynaptic density protein 95 clustering (GO:0097119)|receptor localization to synapse (GO:0097120)|reelin-mediated signaling pathway (GO:0038026)|regulation of behavior (GO:0050795)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of synaptic transmission (GO:0050804)|response to pain (GO:0048265)|spinal cord patterning (GO:0021511)|ventral spinal cord development (GO:0021517)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	lipoprotein particle receptor binding (GO:0070325)|metal ion binding (GO:0046872)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|serine-type peptidase activity (GO:0008236)|very-low-density lipoprotein particle receptor binding (GO:0070326)	p.A2049V(1)		NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		GTGCCAGGTCGCCCCGAAGTC	0.547													G|||	1	0.000199681	8e-04	0	5008	,	,		15683	0		0	False		,,,				2504	0				NSCLC(146;835 1944 15585 22231 52158)	ENST00000424685.2																			1	Substitution - Missense(1)	p.A2049V(1)	large_intestine(1)	NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227						c.(6145-6147)gCg>gTg		reelin		G	VAL/ALA,VAL/ALA	1,4405	2.1+/-5.4	0,1,2202	70	56	61		6146,6146	5.7	1	7		61	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	RELN	NM_005045.3,NM_173054.2	64,64	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	probably-damaging,probably-damaging	2049/3461,2049/3459	103191670	2,13004	2203	4300	6503	SO:0001583	missense	5649				axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity	g.chr7:103191670G>A		CCDS34722.1, CCDS47680.1	7q22	2008-07-18			ENSG00000189056	ENSG00000189056			9957	protein-coding gene	gene with protein product		600514				9049633	Standard	NM_005045		Approved	RL, PRO1598	uc010liz.3	P78509	OTTHUMG00000157247	ENST00000428762.1:c.6146C>T	7.37:g.103191670G>A	ENSP00000392423:p.Ala2049Val					RELN_ENST00000343529.5_Missense_Mutation_p.A2049V|RELN_ENST00000428762.1_Missense_Mutation_p.A2049V	p.A2049V			P78509	RELN_HUMAN		COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)	41	6305	-			2049					A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Missense_Mutation	SNP	ENST00000428762.1	37	c.6146C>T	CCDS47680.1	.	.	.	.	.	.	.	.	.	.	G	27.0	4.791303	0.90367	2.27E-4	1.16E-4	ENSG00000189056	ENST00000428762;ENST00000343529;ENST00000424685;ENST00000448171	T;T;T	0.23348	1.91;1.91;1.91	5.7	5.7	0.88788	Neuraminidase (1);	0.000000	0.85682	D	0.000000	T	0.36496	0.0969	N	0.20401	0.57	0.80722	D	1	P;D	0.76494	0.946;0.999	B;P	0.61874	0.2;0.895	T	0.15065	-1.0450	10	0.54805	T	0.06	.	19.8383	0.96670	0.0:0.0:1.0:0.0	.	2049;2049	P78509-2;P78509	.;RELN_HUMAN	V	2049	ENSP00000392423:A2049V;ENSP00000345694:A2049V;ENSP00000388446:A2049V	ENSP00000345694:A2049V	A	-	2	0	RELN	102978906	1.000000	0.71417	0.993000	0.49108	0.992000	0.81027	9.081000	0.94049	2.683000	0.91414	0.650000	0.86243	GCG		0.547	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348148.1	NM_005045		9	15	0	0	0	1	0	9	15					A	103191670	G	A	103191670	3	1	435	1	0	0	0	0	1	0	0	0	13220	1087	38	1	4336	1	RELN	7	103191670	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	46	103191670	55946993	3743	24668											
RELN	5649	broad.mit.edu	37	chr7	103244918	103244918	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ctctggctccagcggaaacgGgtagcactggacctagaaac	11	6	12	12	2	1	1	0	0	1	1	2	3	2	3	2	4	4	3	2	4	4	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:103244918G>A	ENST00000428762.1	-	23	3180	c.3021C>T	c.(3019-3021)acC>acT	p.T1007T	RELN_ENST00000424685.2_Silent_p.T1007T|RELN_ENST00000343529.5_Silent_p.T1007T	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	1007					associative learning (GO:0008306)|axon guidance (GO:0007411)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|central nervous system development (GO:0007417)|cerebral cortex tangential migration (GO:0021800)|dendrite development (GO:0016358)|glial cell differentiation (GO:0010001)|hippocampus development (GO:0021766)|lateral motor column neuron migration (GO:0097477)|layer formation in cerebral cortex (GO:0021819)|long-term memory (GO:0007616)|N-methyl-D-aspartate receptor clustering (GO:0097114)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of lateral motor column neuron migration (GO:1902078)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of TOR signaling (GO:0032008)|postsynaptic density protein 95 clustering (GO:0097119)|receptor localization to synapse (GO:0097120)|reelin-mediated signaling pathway (GO:0038026)|regulation of behavior (GO:0050795)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of synaptic transmission (GO:0050804)|response to pain (GO:0048265)|spinal cord patterning (GO:0021511)|ventral spinal cord development (GO:0021517)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	lipoprotein particle receptor binding (GO:0070325)|metal ion binding (GO:0046872)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|serine-type peptidase activity (GO:0008236)|very-low-density lipoprotein particle receptor binding (GO:0070326)			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		AGCGGAAACGGGTAGCACTGG	0.483																																					NSCLC(146;835 1944 15585 22231 52158)	ENST00000424685.2																			0				NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227						c.(3019-3021)acC>acT		reelin							116	95	102					7																	103244918		2203	4300	6503	SO:0001819	synonymous_variant	5649				axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity	g.chr7:103244918G>A		CCDS34722.1, CCDS47680.1	7q22	2008-07-18			ENSG00000189056	ENSG00000189056			9957	protein-coding gene	gene with protein product		600514				9049633	Standard	NM_005045		Approved	RL, PRO1598	uc010liz.3	P78509	OTTHUMG00000157247	ENST00000428762.1:c.3021C>T	7.37:g.103244918G>A						RELN_ENST00000343529.5_Silent_p.T1007T|RELN_ENST00000428762.1_Silent_p.T1007T	p.T1007T			P78509	RELN_HUMAN		COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)	23	3180	-			1007					A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Silent	SNP	ENST00000428762.1	37	c.3021C>T	CCDS47680.1																																																																																				0.483	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348148.1	NM_005045		24	29	0	0	0	1	0	24	29					A	103244918	G	A	103244918	2	1	435	1	0	0	0	0	0	0	0	1	13220	1219	43	3		3	RELN	7	103244918	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	53248	103244918	55893745	3744	24669											
RELN	5649	broad.mit.edu	37	chr7	103322655	103322655	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtggtggcaaaattgaactcGctgccttcatttccatggaa	10	12	10	9	1	1	1	1	1	0	0	3	2	2	2	2	3	2	2	2	3	4	3	rs199686580		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:103322655G>A	ENST00000428762.1	-	11	1356	c.1197C>T	c.(1195-1197)agC>agT	p.S399S	RELN_ENST00000424685.2_Silent_p.S399S|RELN_ENST00000343529.5_Silent_p.S399S	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	399					associative learning (GO:0008306)|axon guidance (GO:0007411)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|central nervous system development (GO:0007417)|cerebral cortex tangential migration (GO:0021800)|dendrite development (GO:0016358)|glial cell differentiation (GO:0010001)|hippocampus development (GO:0021766)|lateral motor column neuron migration (GO:0097477)|layer formation in cerebral cortex (GO:0021819)|long-term memory (GO:0007616)|N-methyl-D-aspartate receptor clustering (GO:0097114)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of lateral motor column neuron migration (GO:1902078)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of TOR signaling (GO:0032008)|postsynaptic density protein 95 clustering (GO:0097119)|receptor localization to synapse (GO:0097120)|reelin-mediated signaling pathway (GO:0038026)|regulation of behavior (GO:0050795)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of synaptic transmission (GO:0050804)|response to pain (GO:0048265)|spinal cord patterning (GO:0021511)|ventral spinal cord development (GO:0021517)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	lipoprotein particle receptor binding (GO:0070325)|metal ion binding (GO:0046872)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|serine-type peptidase activity (GO:0008236)|very-low-density lipoprotein particle receptor binding (GO:0070326)			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		AATTGAACTCGCTGCCTTCAT	0.448																																					NSCLC(146;835 1944 15585 22231 52158)	ENST00000424685.2																			0				NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227						c.(1195-1197)agC>agT		reelin							148	139	142					7																	103322655		2203	4300	6503	SO:0001819	synonymous_variant	5649				axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity	g.chr7:103322655G>A		CCDS34722.1, CCDS47680.1	7q22	2008-07-18			ENSG00000189056	ENSG00000189056			9957	protein-coding gene	gene with protein product		600514				9049633	Standard	NM_005045		Approved	RL, PRO1598	uc010liz.3	P78509	OTTHUMG00000157247	ENST00000428762.1:c.1197C>T	7.37:g.103322655G>A						RELN_ENST00000343529.5_Silent_p.S399S|RELN_ENST00000428762.1_Silent_p.S399S	p.S399S			P78509	RELN_HUMAN		COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)	11	1356	-			399					A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Silent	SNP	ENST00000428762.1	37	c.1197C>T	CCDS47680.1																																																																																				0.448	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348148.1	NM_005045		27	46	0	0	0	1	0	27	46					A	103322655	G	A	103322655	2	1	435	1	0	0	0	0	0	0	0	1	13220	1078	38	1		1	RELN	7	103322655	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	77737	103322655	55816008	3745	24670											
RELN	5649	broad.mit.edu	37	chr7	103338506	103338506	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggcgtcctcaggaaggtagaGgatatggatgattgtgctga	10	10	16	5	1	1	3	1	2	0	1	2	6	2	6	1	5	1	2	1	5	3	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:103338506G>T	ENST00000428762.1	-	10	1096	c.937C>A	c.(937-939)Ctc>Atc	p.L313I	RELN_ENST00000424685.2_Missense_Mutation_p.L313I|RELN_ENST00000343529.5_Missense_Mutation_p.L313I	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	313					associative learning (GO:0008306)|axon guidance (GO:0007411)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|central nervous system development (GO:0007417)|cerebral cortex tangential migration (GO:0021800)|dendrite development (GO:0016358)|glial cell differentiation (GO:0010001)|hippocampus development (GO:0021766)|lateral motor column neuron migration (GO:0097477)|layer formation in cerebral cortex (GO:0021819)|long-term memory (GO:0007616)|N-methyl-D-aspartate receptor clustering (GO:0097114)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of lateral motor column neuron migration (GO:1902078)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of TOR signaling (GO:0032008)|postsynaptic density protein 95 clustering (GO:0097119)|receptor localization to synapse (GO:0097120)|reelin-mediated signaling pathway (GO:0038026)|regulation of behavior (GO:0050795)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of synaptic transmission (GO:0050804)|response to pain (GO:0048265)|spinal cord patterning (GO:0021511)|ventral spinal cord development (GO:0021517)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	lipoprotein particle receptor binding (GO:0070325)|metal ion binding (GO:0046872)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|serine-type peptidase activity (GO:0008236)|very-low-density lipoprotein particle receptor binding (GO:0070326)			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		GGAAGGTAGAGGATATGGATG	0.448																																					NSCLC(146;835 1944 15585 22231 52158)	ENST00000424685.2																			0				NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227						c.(937-939)Ctc>Atc		reelin							189	181	184					7																	103338506		2203	4300	6503	SO:0001583	missense	5649				axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity	g.chr7:103338506G>T		CCDS34722.1, CCDS47680.1	7q22	2008-07-18			ENSG00000189056	ENSG00000189056			9957	protein-coding gene	gene with protein product		600514				9049633	Standard	NM_005045		Approved	RL, PRO1598	uc010liz.3	P78509	OTTHUMG00000157247	ENST00000428762.1:c.937C>A	7.37:g.103338506G>T	ENSP00000392423:p.Leu313Ile					RELN_ENST00000343529.5_Missense_Mutation_p.L313I|RELN_ENST00000428762.1_Missense_Mutation_p.L313I	p.L313I			P78509	RELN_HUMAN		COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)	10	1096	-			313					A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Missense_Mutation	SNP	ENST00000428762.1	37	c.937C>A	CCDS47680.1	.	.	.	.	.	.	.	.	.	.	g	12.77	2.036739	0.35893	.	.	ENSG00000189056	ENST00000428762;ENST00000343529;ENST00000424685;ENST00000448171	T;T;T	0.26810	1.71;1.71;1.71	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	T	0.14787	0.0357	N	0.20401	0.57	0.39424	D	0.966973	B;B	0.14805	0.011;0.007	B;B	0.13407	0.009;0.004	T	0.18713	-1.0328	10	0.27082	T	0.32	.	6.5145	0.22240	0.1057:0.0:0.717:0.1773	.	313;313	P78509-2;P78509	.;RELN_HUMAN	I	313	ENSP00000392423:L313I;ENSP00000345694:L313I;ENSP00000388446:L313I	ENSP00000345694:L313I	L	-	1	0	RELN	103125742	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	2.220000	0.42908	2.891000	0.99171	0.651000	0.88453	CTC		0.448	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348148.1	NM_005045		39	65	1	0	4.0492e-12	1	4.37372e-12	39	65					T	103338506	G	T	103338506	3	4	435	1	0	0	0	0	1	0	0	0	13220	1000	35	5	9669	5	RELN	7	103338506	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	15851	103338506	55800157	3746	24671											
MLL5	55904	broad.mit.edu	37	chr7	104742610	104742610	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgaagttccagcacttaataAatgtcctaccaagtacccca	14	10	5	12	0	0	1	0	1	0	0	2	1	2	1	5	0	3	3	5	0	7	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:104742610A>C	ENST00000311117.3	+	17	2710	c.2165A>C	c.(2164-2166)aAa>aCa	p.K722T	CTB-152G17.6_ENST00000607968.1_RNA|KMT2E_ENST00000334877.4_Missense_Mutation_p.K722T|KMT2E_ENST00000334914.7_5'UTR|KMT2E_ENST00000257745.4_Missense_Mutation_p.K722T	NM_182931.2	NP_891847.1	Q8IZD2	KMT2E_HUMAN	lysine (K)-specific methyltransferase 2E	722					cell cycle arrest (GO:0007050)|cellular response to retinoic acid (GO:0071300)|DNA methylation (GO:0006306)|erythrocyte differentiation (GO:0030218)|histone H3-K4 methylation (GO:0051568)|neutrophil activation (GO:0042119)|neutrophil mediated immunity (GO:0002446)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of transcription, DNA-templated (GO:0045893)|retinoic acid receptor signaling pathway (GO:0048384)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|MLL5-L complex (GO:0070688)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)										GCACTTAATAAATGTCCTACC	0.289																																						ENST00000334877.4																			0											c.(2164-2166)aAa>aCa		lysine (K)-specific methyltransferase 2E							65	70	68					7																	104742610		2202	4298	6500	SO:0001583	missense	55904							g.chr7:104742610A>C	AF067804	CCDS34723.1	7q22.1	2013-05-09	2013-05-09	2013-05-09	ENSG00000005483	ENSG00000005483		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	18541	protein-coding gene	gene with protein product		608444	"myeloid/lymphoid or mixed-lineage leukemia 5 (trithorax homolog, Drosophila)"	MLL5		9218106, 7672722	Standard	XM_005250493		Approved	HDCMC04P		Q8IZD2	OTTHUMG00000157403	ENST00000311117.3:c.2165A>C	7.37:g.104742610A>C	ENSP00000312379:p.Lys722Thr					KMT2E_ENST00000334914.7_5'UTR|KMT2E_ENST00000311117.3_Missense_Mutation_p.K722T|KMT2E_ENST00000257745.4_Missense_Mutation_p.K722T	p.K722T							17	2699	+								B6ZDE4|B6ZDM3|M4K8J3|Q6P5Y2|Q6PKG4|Q6T316|Q86TI3|Q86W12|Q86WG0|Q86WL2|Q8IV78|Q8IWR5|Q8NFF8|Q9NWE7	Missense_Mutation	SNP	ENST00000311117.3	37	c.2165A>C	CCDS34723.1	.	.	.	.	.	.	.	.	.	.	A	12.88	2.069413	0.36470	.	.	ENSG00000005483	ENST00000311117;ENST00000393656;ENST00000334877;ENST00000351043;ENST00000257745	D;D;D	0.92249	-3.0;-2.61;-3.0	5.75	5.75	0.90469	.	0.146398	0.52532	D	0.000071	D	0.92368	0.7578	L	0.33485	1.01	0.80722	D	1	D	0.76494	0.999	P	0.60012	0.867	D	0.91301	0.5067	10	0.30078	T	0.28	.	16.0663	0.80878	1.0:0.0:0.0:0.0	.	722	Q8IZD2	MLL5_HUMAN	T	722;722;722;642;722	ENSP00000312379:K722T;ENSP00000335599:K722T;ENSP00000257745:K722T	ENSP00000257745:K722T	K	+	2	0	MLL5	104529846	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.915000	0.63355	2.201000	0.70794	0.533000	0.62120	AAA		0.289	KMT2E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348697.1			19	42	0	0	0	1	0	19	42					C	104742610	A	C	104742610	3	2	435	1	0	0	0	0	1	0	0	0	9624	14	1	5	2223	5	MLL5	7	104742610	Missense_Mutation	SNP	A	TCGA-XK-AAIW-01A-11D-A41K-08	1404104	104742610	54396053	3747	24672											
MLL5	55904	broad.mit.edu	37	chr7	104751018	104751018	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ccccagttgcaagctaagggCccagtcccttctttcagtga	8	10	9	14	0	2	1	1	1	1	0	3	1	3	1	4	1	2	3	4	1	2	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:104751018C>T	ENST00000311117.3	+	25	4484	c.3939C>T	c.(3937-3939)ggC>ggT	p.G1313G	SRPK2_ENST00000493638.1_5'Flank|KMT2E_ENST00000334877.4_Intron|KMT2E_ENST00000334914.7_Silent_p.G368G|KMT2E_ENST00000257745.4_Silent_p.G1313G	NM_182931.2	NP_891847.1	Q8IZD2	KMT2E_HUMAN	lysine (K)-specific methyltransferase 2E	1313					cell cycle arrest (GO:0007050)|cellular response to retinoic acid (GO:0071300)|DNA methylation (GO:0006306)|erythrocyte differentiation (GO:0030218)|histone H3-K4 methylation (GO:0051568)|neutrophil activation (GO:0042119)|neutrophil mediated immunity (GO:0002446)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of transcription, DNA-templated (GO:0045893)|retinoic acid receptor signaling pathway (GO:0048384)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|MLL5-L complex (GO:0070688)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)										AAGCTAAGGGCCCAGTCCCTT	0.413																																						ENST00000311117.3																			0											c.(3937-3939)ggC>ggT		lysine (K)-specific methyltransferase 2E							158	155	156					7																	104751018		2203	4300	6503	SO:0001819	synonymous_variant	55904							g.chr7:104751018C>T	AF067804	CCDS34723.1	7q22.1	2013-05-09	2013-05-09	2013-05-09	ENSG00000005483	ENSG00000005483		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	18541	protein-coding gene	gene with protein product		608444	"myeloid/lymphoid or mixed-lineage leukemia 5 (trithorax homolog, Drosophila)"	MLL5		9218106, 7672722	Standard	XM_005250493		Approved	HDCMC04P		Q8IZD2	OTTHUMG00000157403	ENST00000311117.3:c.3939C>T	7.37:g.104751018C>T						KMT2E_ENST00000334914.7_Silent_p.G368G|KMT2E_ENST00000334877.4_Intron|KMT2E_ENST00000257745.4_Silent_p.G1313G	p.G1313G	NM_182931.2	NP_891847.1					25	4484	+								B6ZDE4|B6ZDM3|M4K8J3|Q6P5Y2|Q6PKG4|Q6T316|Q86TI3|Q86W12|Q86WG0|Q86WL2|Q8IV78|Q8IWR5|Q8NFF8|Q9NWE7	Silent	SNP	ENST00000311117.3	37	c.3939C>T	CCDS34723.1																																																																																				0.413	KMT2E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348697.1			34	46	0	0	0	1	0	34	46					T	104751018	C	T	104751018	2	4	435	1	0	0	0	0	0	0	0	1	9624	726	26	3		3	MLL5	7	104751018	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	8408	104751018	54387645	3748	24673											
PUS7	54517	broad.mit.edu	37	chr7	105146679	105146679	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agtcattcaaatggctgatcCgtccatcttttcctatttca	9	16	5	11	1	4	1	3	1	1	0	7	1	7	1	3	1	0	1	3	1	2	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:105146679C>T	ENST00000356362.2	-	3	654	c.440G>A	c.(439-441)cGg>cAg	p.R147Q	PUS7_ENST00000469408.1_Missense_Mutation_p.R147Q	NM_019042.3	NP_061915.2	Q96PZ0	PUS7_HUMAN	pseudouridylate synthase 7 (putative)	147					pseudouridine synthesis (GO:0001522)|tRNA processing (GO:0008033)		enzyme binding (GO:0019899)|poly(A) RNA binding (GO:0044822)|pseudouridine synthase activity (GO:0009982)			breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(8)|pancreas(1)|skin(1)	23						ATGGCTGATCCGTCCATCTTT	0.353																																					Colon(138;2387 3051 17860)	ENST00000356362.2																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(8)|pancreas(1)|skin(1)	23						c.(439-441)cGg>cAg		pseudouridylate synthase 7 homolog (S. cerevisiae)							70	69	69					7																	105146679		2203	4300	6503	SO:0001583	missense	54517				pseudouridine synthesis|tRNA processing		pseudouridine synthase activity|RNA binding	g.chr7:105146679C>T	AK128629	CCDS34725.1	7q22.3	2014-02-14	2014-02-14		ENSG00000091127	ENSG00000091127			26033	protein-coding gene	gene with protein product			"pseudouridylate synthase 7 homolog (S. cerevisiae)"			11572484	Standard	NM_019042		Approved	FLJ20485	uc003vcx.3	Q96PZ0	OTTHUMG00000157399	ENST00000356362.2:c.440G>A	7.37:g.105146679C>T	ENSP00000348722:p.Arg147Gln					PUS7_ENST00000469408.1_Missense_Mutation_p.R147Q	p.R147Q	NM_019042.3	NP_061915.2	Q96PZ0	PUS7_HUMAN			3	654	-			147					Q75MG4|Q9NX19	Missense_Mutation	SNP	ENST00000356362.2	37	c.440G>A	CCDS34725.1	.	.	.	.	.	.	.	.	.	.	C	9.452	1.090726	0.20471	.	.	ENSG00000091127	ENST00000356362;ENST00000544995;ENST00000469408	T;T	0.40756	1.02;1.02	5.55	0.136	0.14780	Pseudouridine synthase, catalytic domain (1);	0.300009	0.33938	N	0.004406	T	0.23210	0.0561	N	0.19112	0.55	0.09310	N	1	B;B	0.12013	0.005;0.001	B;B	0.06405	0.002;0.002	T	0.15407	-1.0438	10	0.26408	T	0.33	-4.1078	9.2031	0.37272	0.0:0.5141:0.0:0.4859	.	147;147	B3KY42;Q96PZ0	.;PUS7_HUMAN	Q	147	ENSP00000348722:R147Q;ENSP00000417402:R147Q	ENSP00000348722:R147Q	R	-	2	0	PUS7	104933915	0.009000	0.17119	0.001000	0.08648	0.998000	0.95712	0.374000	0.20501	-0.188000	0.10499	0.563000	0.77884	CGG		0.353	PUS7-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348681.1	NM_019042		20	33	0	0	0	1	0	20	33					T	105146679	C	T	105146679	3	4	435	1	0	0	0	0	1	0	0	0	12833	652	23	2	1601	2	PUS7	7	105146679	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	395661	105146679	53991984	3749	24674											
PUS7	54517	broad.mit.edu	37	chr7	105148785	105148785	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gacagtgtcaggaggccgagGcacgtcttcactgatggaca	10	7	14	10	2	3	1	2	1	1	0	3	5	3	3	1	4	0	1	1	4	0	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:105148785G>A	ENST00000356362.2	-	2	389	c.175C>T	c.(175-177)Cct>Tct	p.P59S	PUS7_ENST00000469408.1_Missense_Mutation_p.P59S	NM_019042.3	NP_061915.2	Q96PZ0	PUS7_HUMAN	pseudouridylate synthase 7 (putative)	59					pseudouridine synthesis (GO:0001522)|tRNA processing (GO:0008033)		enzyme binding (GO:0019899)|poly(A) RNA binding (GO:0044822)|pseudouridine synthase activity (GO:0009982)			breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(8)|pancreas(1)|skin(1)	23						GGAGGCCGAGGCACGTCTTCA	0.478																																					Colon(138;2387 3051 17860)	ENST00000356362.2																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(8)|pancreas(1)|skin(1)	23						c.(175-177)Cct>Tct		pseudouridylate synthase 7 homolog (S. cerevisiae)							242	209	220					7																	105148785		2203	4300	6503	SO:0001583	missense	54517				pseudouridine synthesis|tRNA processing		pseudouridine synthase activity|RNA binding	g.chr7:105148785G>A	AK128629	CCDS34725.1	7q22.3	2014-02-14	2014-02-14		ENSG00000091127	ENSG00000091127			26033	protein-coding gene	gene with protein product			"pseudouridylate synthase 7 homolog (S. cerevisiae)"			11572484	Standard	NM_019042		Approved	FLJ20485	uc003vcx.3	Q96PZ0	OTTHUMG00000157399	ENST00000356362.2:c.175C>T	7.37:g.105148785G>A	ENSP00000348722:p.Pro59Ser					PUS7_ENST00000469408.1_Missense_Mutation_p.P59S	p.P59S	NM_019042.3	NP_061915.2	Q96PZ0	PUS7_HUMAN			2	389	-			59					Q75MG4|Q9NX19	Missense_Mutation	SNP	ENST00000356362.2	37	c.175C>T	CCDS34725.1	.	.	.	.	.	.	.	.	.	.	G	9.435	1.086630	0.20390	.	.	ENSG00000091127	ENST00000356362;ENST00000544995;ENST00000469408	T;T	0.40756	1.02;1.02	5.71	4.75	0.60458	.	0.466770	0.20225	N	0.096620	T	0.31765	0.0807	L	0.40543	1.245	0.09310	N	1	B;B	0.20671	0.047;0.047	B;B	0.19148	0.024;0.024	T	0.12167	-1.0558	10	0.10902	T	0.67	-3.7526	12.9595	0.58449	0.0:0.0:0.7933:0.2067	.	59;59	B3KY42;Q96PZ0	.;PUS7_HUMAN	S	59	ENSP00000348722:P59S;ENSP00000417402:P59S	ENSP00000348722:P59S	P	-	1	0	PUS7	104936021	0.459000	0.25768	0.107000	0.21349	0.040000	0.13550	1.788000	0.38714	2.691000	0.91804	0.561000	0.74099	CCT		0.478	PUS7-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348681.1	NM_019042		41	65	0	0	0	1	0	41	65					A	105148785	G	A	105148785	3	1	435	1	0	0	0	0	1	0	0	0	12833	1203	42	3	1870	3	PUS7	7	105148785	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	2106	105148785	53989878	3750	24675											
SLC26A3	1811	broad.mit.edu	37	chr7	107423293	107423293	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gctagaacgacaatcagcacGatgatggcaccaataagccc	15	5	9	12	2	1	2	1	1	0	1	1	4	1	2	2	1	3	3	2	1	5	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:107423293G>A	ENST00000340010.5	-	11	1444	c.1260C>T	c.(1258-1260)atC>atT	p.I420I	SLC26A3_ENST00000422236.2_Silent_p.I385I	NM_000111.2	NP_000102.1	P40879	S26A3_HUMAN	solute carrier family 26 (anion exchanger), member 3	420					anion transport (GO:0006820)|cellular response to cAMP (GO:0071320)|excretion (GO:0007588)|intracellular pH elevation (GO:0051454)|ion transport (GO:0006811)|membrane hyperpolarization (GO:0060081)|regulation of RNA biosynthetic process (GO:2001141)|regulation of transcription, DNA-templated (GO:0006355)|sperm capacitation (GO:0048240)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|sperm midpiece (GO:0097225)	anion:anion antiporter activity (GO:0015301)|bicarbonate transmembrane transporter activity (GO:0015106)|chloride transmembrane transporter activity (GO:0015108)|secondary active sulfate transmembrane transporter activity (GO:0008271)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription cofactor activity (GO:0003712)|transporter activity (GO:0005215)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(18)|ovary(4)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	46						CAATCAGCACGATGATGGCAC	0.418																																						ENST00000340010.5																			0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(18)|ovary(4)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	46						c.(1258-1260)atC>atT		solute carrier family 26 (anion exchanger), member 3							84	81	82					7																	107423293		2203	4300	6503	SO:0001819	synonymous_variant	1811				excretion	integral to membrane|membrane fraction	inorganic anion exchanger activity|secondary active sulfate transmembrane transporter activity|sequence-specific DNA binding transcription factor activity|transcription cofactor activity	g.chr7:107423293G>A	L02785	CCDS5748.1	7q31	2014-09-17	2013-07-18		ENSG00000091138	ENSG00000091138		"Solute carriers"	3018	protein-coding gene	gene with protein product		126650	"congenital chloride diarrhea", "solute carrier family 26, member 3"	DRA, CLD		8020951, 11087667	Standard	NM_000111		Approved		uc003ver.2	P40879	OTTHUMG00000154812	ENST00000340010.5:c.1260C>T	7.37:g.107423293G>A						SLC26A3_ENST00000422236.2_Silent_p.I385I	p.I420I	NM_000111.2	NP_000102.1	P40879	S26A3_HUMAN			11	1444	-			420						Silent	SNP	ENST00000340010.5	37	c.1260C>T	CCDS5748.1																																																																																				0.418	SLC26A3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337190.1	NM_000111		12	24	0	0	0	1	0	12	24					A	107423293	G	A	107423293	2	1	435	1	0	0	0	0	0	0	0	1	14518	1048	37	2		2	SLC26A3	7	107423293	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	2274508	107423293	51715370	3751	24676											
DLD	1738	broad.mit.edu	37	chr7	107545875	107545875	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgctacgaaagctgatggcGgcactcaggttattgataca	11	10	11	9	2	1	2	1	2	0	0	1	3	1	2	0	3	4	4	0	3	4	4	rs567286177		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:107545875G>A	ENST00000205402.5	+	7	789	c.508G>A	c.(508-510)Ggc>Agc	p.G170S	DLD_ENST00000537148.1_Missense_Mutation_p.G71S|DLD_ENST00000440410.1_Missense_Mutation_p.G147S|DLD_ENST00000437604.2_Intron	NM_000108.3	NP_000099.2	P09622	DLDH_HUMAN	dihydrolipoamide dehydrogenase	170					branched-chain amino acid catabolic process (GO:0009083)|cell redox homeostasis (GO:0045454)|cellular metabolic process (GO:0044237)|cellular nitrogen compound metabolic process (GO:0034641)|gastrulation (GO:0007369)|lysine catabolic process (GO:0006554)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|proteolysis (GO:0006508)|pyruvate metabolic process (GO:0006090)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|regulation of membrane potential (GO:0042391)|small molecule metabolic process (GO:0044281)|sperm capacitation (GO:0048240)|tricarboxylic acid cycle (GO:0006099)	acrosomal matrix (GO:0043159)|cilium (GO:0005929)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	dihydrolipoyl dehydrogenase activity (GO:0004148)|flavin adenine dinucleotide binding (GO:0050660)			NS(1)|breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(1)|lung(10)|prostate(1)	20					Flavin adenine dinucleotide(DB03147)	AGCTGATGGCGGCACTCAGGT	0.358													G|||	1	0.000199681	0	0	5008	,	,		16017	0		0	False		,,,				2504	0.001					ENST00000205402.5																			0				NS(1)|breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(1)|lung(10)|prostate(1)	20						c.(508-510)Ggc>Agc		dihydrolipoamide dehydrogenase	NADH(DB00157)						111	108	109					7																	107545875		2203	4300	6503	SO:0001583	missense	1738				branched chain family amino acid catabolic process|cell redox homeostasis|lysine catabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate|tricarboxylic acid cycle	mitochondrial matrix	dihydrolipoyl dehydrogenase activity	g.chr7:107545875G>A	AB209703	CCDS5749.1	7q31-q32	2006-05-22	2006-05-22		ENSG00000091140	ENSG00000091140	1.8.1.4		2898	protein-coding gene	gene with protein product	"E3 component of pyruvate dehydrogenase complex, 2-oxo-glutarate complex, branched chain keto acid dehydrogenase complex"	238331	"dihydrolipoamide dehydrogenase (E3 component of pyruvate dehydrogenase complex, 2-oxo-glutarate complex, branched chain keto acid dehydrogenase complex)"	LAD, GCSL			Standard	NM_000108		Approved	DLDH	uc003vet.3	P09622	OTTHUMG00000154813	ENST00000205402.5:c.508G>A	7.37:g.107545875G>A	ENSP00000205402:p.Gly170Ser					DLD_ENST00000537148.1_Missense_Mutation_p.G71S|DLD_ENST00000437604.2_Intron|DLD_ENST00000440410.1_Missense_Mutation_p.G147S	p.G170S	NM_000108.3	NP_000099.2	P09622	DLDH_HUMAN			7	789	+			170					B2R5X0|B4DHG0|B4DT69|Q14131|Q14167|Q59EV8|Q8WTS4	Missense_Mutation	SNP	ENST00000205402.5	37	c.508G>A	CCDS5749.1	.	.	.	.	.	.	.	.	.	.	G	10.63	1.404487	0.25378	.	.	ENSG00000091140	ENST00000205402;ENST00000417551;ENST00000537148;ENST00000440410;ENST00000539590	T;T;T;T	0.42900	0.96;0.96;0.96;0.96	5.88	0.655	0.17839	Pyridine nucleotide-disulphide oxidoreductase, FAD/NAD(P)-binding domain (1);	0.075781	0.85682	N	0.000000	T	0.16214	0.0390	N	0.03983	-0.305	0.32584	N	0.528065	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.0	T	0.28073	-1.0055	10	0.12103	T	0.63	-11.9932	9.5901	0.39541	0.7364:0.0:0.2636:0.0	.	147;170	E9PEX6;P09622	.;DLDH_HUMAN	S	170;170;71;147;120	ENSP00000205402:G170S;ENSP00000390667:G170S;ENSP00000442399:G71S;ENSP00000417016:G147S	ENSP00000205402:G170S	G	+	1	0	DLD	107333111	1.000000	0.71417	0.995000	0.50966	0.551000	0.35334	2.923000	0.48868	-0.066000	0.12998	-0.423000	0.05987	GGC		0.358	DLD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337194.3	NM_000108		44	62	0	0	0	1	0	44	62					A	107545875	G	A	107545875	3	1	435	1	0	0	0	0	1	0	0	0	4551	1116	39	2	534	2	DLD	7	107545875	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	122582	107545875	51592788	3752	24677											
DLD	1738	broad.mit.edu	37	chr7	107546746	107546746	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aatagtgtcatctacaggtgCtttatctttaaaaaaagttc	14	15	6	6	0	3	0	1	0	2	0	4	0	3	0	0	1	2	2	0	1	8	7			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:107546746C>T	ENST00000205402.5	+	8	898	c.617C>T	c.(616-618)gCt>gTt	p.A206V	DLD_ENST00000537148.1_Missense_Mutation_p.A107V|DLD_ENST00000440410.1_Missense_Mutation_p.A183V|DLD_ENST00000437604.2_Missense_Mutation_p.A158V	NM_000108.3	NP_000099.2	P09622	DLDH_HUMAN	dihydrolipoamide dehydrogenase	206					branched-chain amino acid catabolic process (GO:0009083)|cell redox homeostasis (GO:0045454)|cellular metabolic process (GO:0044237)|cellular nitrogen compound metabolic process (GO:0034641)|gastrulation (GO:0007369)|lysine catabolic process (GO:0006554)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|proteolysis (GO:0006508)|pyruvate metabolic process (GO:0006090)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|regulation of membrane potential (GO:0042391)|small molecule metabolic process (GO:0044281)|sperm capacitation (GO:0048240)|tricarboxylic acid cycle (GO:0006099)	acrosomal matrix (GO:0043159)|cilium (GO:0005929)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	dihydrolipoyl dehydrogenase activity (GO:0004148)|flavin adenine dinucleotide binding (GO:0050660)			NS(1)|breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(1)|lung(10)|prostate(1)	20					Flavin adenine dinucleotide(DB03147)	TCTACAGGTGCTTTATCTTTA	0.333																																						ENST00000205402.5																			0				NS(1)|breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(1)|lung(10)|prostate(1)	20						c.(616-618)gCt>gTt		dihydrolipoamide dehydrogenase	NADH(DB00157)						126	132	130					7																	107546746		2203	4300	6503	SO:0001583	missense	1738				branched chain family amino acid catabolic process|cell redox homeostasis|lysine catabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate|tricarboxylic acid cycle	mitochondrial matrix	dihydrolipoyl dehydrogenase activity	g.chr7:107546746C>T	AB209703	CCDS5749.1	7q31-q32	2006-05-22	2006-05-22		ENSG00000091140	ENSG00000091140	1.8.1.4		2898	protein-coding gene	gene with protein product	"E3 component of pyruvate dehydrogenase complex, 2-oxo-glutarate complex, branched chain keto acid dehydrogenase complex"	238331	"dihydrolipoamide dehydrogenase (E3 component of pyruvate dehydrogenase complex, 2-oxo-glutarate complex, branched chain keto acid dehydrogenase complex)"	LAD, GCSL			Standard	NM_000108		Approved	DLDH	uc003vet.3	P09622	OTTHUMG00000154813	ENST00000205402.5:c.617C>T	7.37:g.107546746C>T	ENSP00000205402:p.Ala206Val					DLD_ENST00000537148.1_Missense_Mutation_p.A107V|DLD_ENST00000437604.2_Missense_Mutation_p.A158V|DLD_ENST00000440410.1_Missense_Mutation_p.A183V	p.A206V	NM_000108.3	NP_000099.2	P09622	DLDH_HUMAN			8	898	+			206					B2R5X0|B4DHG0|B4DT69|Q14131|Q14167|Q59EV8|Q8WTS4	Missense_Mutation	SNP	ENST00000205402.5	37	c.617C>T	CCDS5749.1	.	.	.	.	.	.	.	.	.	.	C	34	5.408367	0.96051	.	.	ENSG00000091140	ENST00000205402;ENST00000417551;ENST00000537148;ENST00000440410;ENST00000437604;ENST00000539590	T;T;T;T;T	0.45276	0.9;0.9;0.9;0.9;0.9	5.75	5.75	0.90469	Pyridine nucleotide-disulphide oxidoreductase, FAD/NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	T	0.70202	0.3197	M	0.82716	2.605	0.80722	D	1	D;D;D	0.89917	0.999;0.999;1.0	D;D;D	0.85130	0.989;0.997;0.983	T	0.72773	-0.4192	10	0.87932	D	0	-14.4777	20.312	0.98644	0.0:1.0:0.0:0.0	.	183;158;206	E9PEX6;B4DT69;P09622	.;.;DLDH_HUMAN	V	206;206;107;183;158;156	ENSP00000205402:A206V;ENSP00000390667:A206V;ENSP00000442399:A107V;ENSP00000417016:A183V;ENSP00000387542:A158V	ENSP00000205402:A206V	A	+	2	0	DLD	107333982	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.201000	0.77847	2.866000	0.98385	0.650000	0.86243	GCT		0.333	DLD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337194.3	NM_000108		8	24	0	0	0	1	0	8	24					T	107546746	C	T	107546746	3	4	435	1	0	0	0	0	1	0	0	0	4551	797	28	3	647	3	DLD	7	107546746	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	871	107546746	51591917	3753	24678											
LAMB1	3912	broad.mit.edu	37	chr7	107602081	107602081	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tggttggaatccttccaggtCgctgcactgtgatgacagct	7	12	12	10	1	0	2	0	2	0	0	3	3	2	3	2	3	2	4	2	3	1	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:107602081C>T	ENST00000222399.6	-	16	2128	c.1898G>A	c.(1897-1899)cGa>cAa	p.R633Q	LAMB1_ENST00000393561.1_Missense_Mutation_p.R657Q|LAMB1_ENST00000393560.1_Missense_Mutation_p.R633Q	NM_002291.2	NP_002282.2	P07942	LAMB1_HUMAN	laminin, beta 1	633	Laminin IV type B. {ECO:0000255|PROSITE- ProRule:PRU00462}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|embryo implantation (GO:0007566)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of cell adhesion (GO:0007162)|neuron projection development (GO:0031175)|neuronal-glial interaction involved in cerebral cortex radial glia guided migration (GO:0021812)|odontogenesis (GO:0042476)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell proliferation (GO:0050679)|substrate adhesion-dependent cell spreading (GO:0034446)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-2 complex (GO:0005607)|laminin-8 complex (GO:0043257)|perinuclear region of cytoplasm (GO:0048471)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)|structural molecule activity (GO:0005198)			NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)	82						CCTTCCAGGTCGCTGCACTGT	0.478																																						ENST00000393561.1																			0				NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)	82						c.(1969-1971)cGa>cAa		laminin, beta 1	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						129	110	117					7																	107602081		2203	4300	6503	SO:0001583	missense	3912				axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm	extracellular matrix structural constituent	g.chr7:107602081C>T	M61916	CCDS5750.1	7q22	2013-03-01			ENSG00000091136	ENSG00000091136		"Laminins"	6486	protein-coding gene	gene with protein product		150240	"cutis laxa with marfanoid phenotype"	CLM		2563160, 2704655, 1864606	Standard	NM_002291		Approved		uc003vew.2	P07942	OTTHUMG00000149966	ENST00000222399.6:c.1898G>A	7.37:g.107602081C>T	ENSP00000222399:p.Arg633Gln					LAMB1_ENST00000222399.6_Missense_Mutation_p.R633Q|LAMB1_ENST00000393560.1_Missense_Mutation_p.R633Q	p.R657Q			P07942	LAMB1_HUMAN			14	2154	-			633			Laminin IV type B.		Q14D91	Missense_Mutation	SNP	ENST00000222399.6	37	c.1970G>A	CCDS5750.1	.	.	.	.	.	.	.	.	.	.	C	28.1	4.893243	0.91889	.	.	ENSG00000091136	ENST00000393561;ENST00000222399;ENST00000393560	T;T;T	0.39406	1.34;1.35;1.08	5.35	5.35	0.76521	Laminin IV (1);	.	.	.	.	T	0.67449	0.2894	M	0.81179	2.53	0.80722	D	1	D;P;D	0.89917	1.0;0.881;1.0	D;B;D	0.69307	0.922;0.221;0.963	T	0.71034	-0.4709	9	0.59425	D	0.04	.	19.0628	0.93100	0.0:1.0:0.0:0.0	.	633;633;657	E7EPA6;P07942;G3XAI2	.;LAMB1_HUMAN;.	Q	657;633;633	ENSP00000377191:R657Q;ENSP00000222399:R633Q;ENSP00000377190:R633Q	ENSP00000222399:R633Q	R	-	2	0	LAMB1	107389317	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.487000	0.81328	2.499000	0.84300	0.467000	0.42956	CGA		0.478	LAMB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314584.1	NM_002291		22	35	0	0	0	1	0	22	35					T	107602081	C	T	107602081	3	4	435	1	0	0	0	0	1	0	0	0	8610	884	31	2	3538	2	LAMB1	7	107602081	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	55335	107602081	51536582	3754	24679											
LAMB1	3912	broad.mit.edu	37	chr7	107605029	107605029	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggcttcctccgcttcatagaGgtagtgatccagggtggcaa	8	10	13	10	1	1	2	1	1	0	1	4	2	4	2	3	4	0	4	3	4	3	4	rs534982664		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:107605029G>A	ENST00000222399.6	-	14	1896	c.1666C>T	c.(1666-1668)Ctc>Ttc	p.L556F	LAMB1_ENST00000393561.1_Missense_Mutation_p.L580F|LAMB1_ENST00000393560.1_Missense_Mutation_p.L556F	NM_002291.2	NP_002282.2	P07942	LAMB1_HUMAN	laminin, beta 1	556	Laminin IV type B. {ECO:0000255|PROSITE- ProRule:PRU00462}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|embryo implantation (GO:0007566)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of cell adhesion (GO:0007162)|neuron projection development (GO:0031175)|neuronal-glial interaction involved in cerebral cortex radial glia guided migration (GO:0021812)|odontogenesis (GO:0042476)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell proliferation (GO:0050679)|substrate adhesion-dependent cell spreading (GO:0034446)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-2 complex (GO:0005607)|laminin-8 complex (GO:0043257)|perinuclear region of cytoplasm (GO:0048471)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)|structural molecule activity (GO:0005198)			NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)	82						GCTTCATAGAGGTAGTGATCC	0.537																																						ENST00000393561.1																			0				NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)	82						c.(1738-1740)Ctc>Ttc		laminin, beta 1	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						184	161	169					7																	107605029		2203	4300	6503	SO:0001583	missense	3912				axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm	extracellular matrix structural constituent	g.chr7:107605029G>A	M61916	CCDS5750.1	7q22	2013-03-01			ENSG00000091136	ENSG00000091136		"Laminins"	6486	protein-coding gene	gene with protein product		150240	"cutis laxa with marfanoid phenotype"	CLM		2563160, 2704655, 1864606	Standard	NM_002291		Approved		uc003vew.2	P07942	OTTHUMG00000149966	ENST00000222399.6:c.1666C>T	7.37:g.107605029G>A	ENSP00000222399:p.Leu556Phe					LAMB1_ENST00000222399.6_Missense_Mutation_p.L556F|LAMB1_ENST00000393560.1_Missense_Mutation_p.L556F	p.L580F			P07942	LAMB1_HUMAN			12	1922	-			556			Laminin IV type B.		Q14D91	Missense_Mutation	SNP	ENST00000222399.6	37	c.1738C>T	CCDS5750.1	.	.	.	.	.	.	.	.	.	.	G	13.64	2.296782	0.40594	.	.	ENSG00000091136	ENST00000393561;ENST00000222399;ENST00000393560	T;T;T	0.39592	1.39;1.39;1.07	4.64	2.29	0.28610	Laminin IV (1);	.	.	.	.	T	0.28134	0.0694	L	0.38175	1.15	0.25377	N	0.988648	B;B;B	0.31383	0.068;0.132;0.321	B;B;B	0.26310	0.021;0.057;0.068	T	0.14227	-1.0480	9	0.26408	T	0.33	.	7.0237	0.24928	0.0:0.08:0.3234:0.5966	.	556;556;580	E7EPA6;P07942;G3XAI2	.;LAMB1_HUMAN;.	F	580;556;556	ENSP00000377191:L580F;ENSP00000222399:L556F;ENSP00000377190:L556F	ENSP00000222399:L556F	L	-	1	0	LAMB1	107392265	1.000000	0.71417	1.000000	0.80357	0.853000	0.48598	0.682000	0.25335	0.197000	0.20387	0.563000	0.77884	CTC		0.537	LAMB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314584.1	NM_002291		30	61	0	0	0	1	0	30	61					A	107605029	G	A	107605029	3	1	435	1	0	0	0	0	1	0	0	0	8610	1000	35	3	3778	3	LAMB1	7	107605029	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	2948	107605029	51533634	3755	24680											
LAMB4	22798	broad.mit.edu	37	chr7	107671300	107671300	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagattcagcctgaactttcGcattgacagcgtggtcttga	9	12	10	10	2	2	4	1	3	1	1	3	4	2	4	1	1	3	1	1	1	1	4	rs145266740	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:107671300G>A	ENST00000388781.3	-	32	5026	c.4943C>T	c.(4942-4944)gCg>gTg	p.A1648V	LAMB4_ENST00000483484.1_Intron|LAMB4_ENST00000205386.4_Missense_Mutation_p.A1648V|LAMB4_ENST00000388780.3_Missense_Mutation_p.A1648V	NM_007356.2	NP_031382.2	A4D0S4	LAMB4_HUMAN	laminin, beta 4	1648	Domain I.				cell adhesion (GO:0007155)	basement membrane (GO:0005604)				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						CTGAACTTTCGCATTGACAGC	0.517													G|||	3	0.000599042	0.0023	0	5008	,	,		16131	0		0	False		,,,				2504	0					ENST00000388781.3																			0				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						c.(4942-4944)gCg>gTg		laminin, beta 4		G	VAL/ALA	10,4396	16.8+/-37.8	0,10,2193	268	210	229		4943	-3.4	0	7	dbSNP_134	229	2,8598	1.2+/-3.3	0,2,4298	yes	missense	LAMB4	NM_007356.2	64	0,12,6491	AA,AG,GG		0.0233,0.227,0.0923	benign	1648/1762	107671300	12,12994	2203	4300	6503	SO:0001583	missense	22798				cell adhesion	basement membrane		g.chr7:107671300G>A	AF028816	CCDS34732.1	7q31	2013-03-01			ENSG00000091128	ENSG00000091128		"Laminins"	6491	protein-coding gene	gene with protein product							Standard	NM_007356		Approved		uc010ljo.1	A4D0S4	OTTHUMG00000154874	ENST00000388781.3:c.4943C>T	7.37:g.107671300G>A	ENSP00000373433:p.Ala1648Val					LAMB4_ENST00000205386.4_Missense_Mutation_p.A1648V|LAMB4_ENST00000483484.1_Intron|LAMB4_ENST00000388780.3_Missense_Mutation_p.A1648V	p.A1648V	NM_007356.2	NP_031382.2	A4D0S4	LAMB4_HUMAN			32	5026	-			1648			Domain I.		A5PKU6|B2RTT3|B5MEB9|Q86TP7|Q86XN2|Q8NBX5	Missense_Mutation	SNP	ENST00000388781.3	37	c.4943C>T	CCDS34732.1	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	G	1.022	-0.684606	0.03353	0.00227	2.33E-4	ENSG00000091128	ENST00000205386;ENST00000388781;ENST00000422975;ENST00000388780	T;T;T;T	0.79554	1.29;1.29;-1.28;1.32	5.32	-3.44	0.04796	.	0.965279	0.08491	N	0.938002	T	0.55130	0.1901	N	0.03608	-0.345	0.09310	N	0.999991	B;B	0.18741	0.03;0.0	B;B	0.23574	0.047;0.0	T	0.50668	-0.8801	10	0.02654	T	1	.	12.4115	0.55469	0.3901:0.0:0.6099:0.0	.	1648;1648	A4D0S4-3;A4D0S4	.;LAMB4_HUMAN	V	1648;1648;674;1648	ENSP00000205386:A1648V;ENSP00000373433:A1648V;ENSP00000416562:A674V;ENSP00000373432:A1648V	ENSP00000205386:A1648V	A	-	2	0	LAMB4	107458536	0.000000	0.05858	0.000000	0.03702	0.027000	0.11550	-0.285000	0.08410	-0.972000	0.03559	-1.336000	0.01259	GCG		0.517	LAMB4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337442.1	XM_209857		55	70	0	0	0	1	0	55	70					A	107671300	G	A	107671300	3	1	435	1	0	0	0	0	1	0	0	0	8613	1087	38	1	354	1	LAMB4	7	107671300	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	66271	107671300	51467363	3756	24681											
LAMB4	22798	broad.mit.edu	37	chr7	107756561	107756561	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	caccagtggtgggatgacagGcacccctgttgcagtcatct	8	9	12	12	0	2	1	1	1	1	0	2	2	2	2	3	3	1	3	3	3	0	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:107756561G>A	ENST00000388781.3	-	3	163	c.80C>T	c.(79-81)gCc>gTc	p.A27V	LAMB4_ENST00000205386.4_Missense_Mutation_p.A27V|LAMB4_ENST00000414450.2_Missense_Mutation_p.A27V|LAMB4_ENST00000388780.3_Missense_Mutation_p.A27V|LAMB4_ENST00000418464.1_Missense_Mutation_p.A27V	NM_007356.2	NP_031382.2	A4D0S4	LAMB4_HUMAN	laminin, beta 4	27	Laminin N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00466}.				cell adhesion (GO:0007155)	basement membrane (GO:0005604)				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						GGGATGACAGGCACCCCTGTT	0.532																																						ENST00000388781.3																			0				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						c.(79-81)gCc>gTc		laminin, beta 4							129	121	124					7																	107756561		2203	4300	6503	SO:0001583	missense	22798				cell adhesion	basement membrane		g.chr7:107756561G>A	AF028816	CCDS34732.1	7q31	2013-03-01			ENSG00000091128	ENSG00000091128		"Laminins"	6491	protein-coding gene	gene with protein product							Standard	NM_007356		Approved		uc010ljo.1	A4D0S4	OTTHUMG00000154874	ENST00000388781.3:c.80C>T	7.37:g.107756561G>A	ENSP00000373433:p.Ala27Val					LAMB4_ENST00000205386.4_Missense_Mutation_p.A27V|LAMB4_ENST00000414450.2_Missense_Mutation_p.A27V|LAMB4_ENST00000388780.3_Missense_Mutation_p.A27V	p.A27V	NM_007356.2	NP_031382.2	A4D0S4	LAMB4_HUMAN			3	163	-			27			Laminin N-terminal.		A5PKU6|B2RTT3|B5MEB9|Q86TP7|Q86XN2|Q8NBX5	Missense_Mutation	SNP	ENST00000388781.3	37	c.80C>T	CCDS34732.1	.	.	.	.	.	.	.	.	.	.	G	16.07	3.019485	0.54576	.	.	ENSG00000091128	ENST00000205386;ENST00000388781;ENST00000388780;ENST00000418464;ENST00000414450	T;T;T;T;T	0.34072	1.39;1.39;1.41;1.38;1.43	5.69	2.45	0.29901	Laminin, N-terminal (2);	0.283972	0.24786	N	0.035604	T	0.29588	0.0738	L	0.42245	1.32	0.24129	N	0.995771	B	0.15473	0.013	B	0.12156	0.007	T	0.28106	-1.0054	10	0.62326	D	0.03	.	10.3294	0.43814	0.0733:0.2464:0.6803:0.0	.	27	A4D0S4	LAMB4_HUMAN	V	27	ENSP00000205386:A27V;ENSP00000373433:A27V;ENSP00000373432:A27V;ENSP00000402353:A27V;ENSP00000402265:A27V	ENSP00000205386:A27V	A	-	2	0	LAMB4	107543797	0.115000	0.22152	0.368000	0.25939	0.246000	0.25737	0.385000	0.20685	0.619000	0.30197	0.655000	0.94253	GCC		0.532	LAMB4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337442.1	XM_209857		30	46	0	0	0	1	0	30	46					A	107756561	G	A	107756561	3	1	435	1	0	0	0	0	1	0	0	0	8613	1203	42	3	5333	3	LAMB4	7	107756561	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	85261	107756561	51382102	3757	24682											
NRCAM	4897	broad.mit.edu	37	chr7	107820829	107820829	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatctttttctcaatgtgacGtctgtttcttttagatgaac	8	19	7	7	1	4	3	1	2	4	1	5	4	4	3	0	0	1	1	0	0	3	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:107820829G>A	ENST00000425651.2	-	22	2688	c.2689C>T	c.(2689-2691)Cgt>Tgt	p.R897C	NRCAM_ENST00000379028.3_Missense_Mutation_p.R897C|NRCAM_ENST00000413765.2_Missense_Mutation_p.R878C|NRCAM_ENST00000379024.4_Missense_Mutation_p.R878C|NRCAM_ENST00000379022.4_Missense_Mutation_p.R897C|NRCAM_ENST00000351718.4_Missense_Mutation_p.R881C	NM_001037132.2	NP_001032209.1	Q92823	NRCAM_HUMAN	neuronal cell adhesion molecule	897	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|axonogenesis (GO:0007409)|central nervous system development (GO:0007417)|clustering of voltage-gated sodium channels (GO:0045162)|heterotypic cell-cell adhesion (GO:0034113)|neuron migration (GO:0001764)|neuronal action potential propagation (GO:0019227)|positive regulation of neuron differentiation (GO:0045666)|protein localization (GO:0008104)|regulation of axon extension (GO:0030516)|retinal ganglion cell axon guidance (GO:0031290)|single organismal cell-cell adhesion (GO:0016337)|synapse assembly (GO:0007416)	axon initial segment (GO:0043194)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)	ankyrin binding (GO:0030506)			breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(1)|lung(36)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	65						TCAATGTGACGTCTGTTTCTT	0.448																																						ENST00000379028.3																			0				breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(1)|lung(36)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	65						c.(2689-2691)Cgt>Tgt		neuronal cell adhesion molecule							87	78	81					7																	107820829		2203	4300	6503	SO:0001583	missense	4897				angiogenesis|axon guidance|axonal fasciculation|cell-cell adhesion|central nervous system development|clustering of voltage-gated sodium channels|neuron migration|positive regulation of neuron differentiation|regulation of axon extension|synapse assembly	external side of plasma membrane|integral to plasma membrane	ankyrin binding	g.chr7:107820829G>A		CCDS5751.1, CCDS47686.1, CCDS55153.1, CCDS75652.1	7q31	2013-02-11			ENSG00000091129	ENSG00000091129		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	7994	protein-coding gene	gene with protein product	"NgCAM-related cell adhesion molecule"	601581				8812479	Standard	NM_001037132		Approved	KIAA0343, Bravo	uc022aka.1	Q92823	OTTHUMG00000154973	ENST00000425651.2:c.2689C>T	7.37:g.107820829G>A	ENSP00000401244:p.Arg897Cys					NRCAM_ENST00000413765.2_Missense_Mutation_p.R878C|NRCAM_ENST00000379022.4_Missense_Mutation_p.R897C|NRCAM_ENST00000425651.2_Missense_Mutation_p.R897C|NRCAM_ENST00000351718.4_Missense_Mutation_p.R881C|NRCAM_ENST00000379024.4_Missense_Mutation_p.R878C	p.R897C			Q92823	NRCAM_HUMAN			25	3159	-			897			Fibronectin type-III 3.		A4D0S3|E9PDA4|O15051|O15179|Q14BM2|Q9UHI3|Q9UHI4	Missense_Mutation	SNP	ENST00000425651.2	37	c.2689C>T	CCDS47686.1	.	.	.	.	.	.	.	.	.	.	G	14.34	2.507050	0.44558	.	.	ENSG00000091129	ENST00000379032;ENST00000379028;ENST00000413765;ENST00000537765;ENST00000351718;ENST00000379024;ENST00000425651;ENST00000379022	T;T;T;T;T;T	0.60920	0.15;0.44;0.16;0.21;0.15;0.19	5.88	5.88	0.94601	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.307373	0.37393	N	0.002104	T	0.68550	0.3013	L	0.46885	1.475	0.35584	D	0.806501	D;D;P;D;D	0.76494	0.997;0.999;0.947;0.999;0.999	P;D;D;P;D	0.68765	0.901;0.96;0.944;0.849;0.951	T	0.75334	-0.3354	10	0.62326	D	0.03	.	13.6392	0.62239	0.0:0.0:0.7296:0.2703	.	897;878;878;881;897	Q92823-5;Q92823-3;E9PDA4;Q92823-4;Q92823	.;.;.;.;NRCAM_HUMAN	C	897;897;878;897;881;878;897;897	ENSP00000368314:R897C;ENSP00000407858:R878C;ENSP00000325269:R881C;ENSP00000368310:R878C;ENSP00000401244:R897C;ENSP00000368308:R897C	ENSP00000325269:R881C	R	-	1	0	NRCAM	107608065	0.799000	0.28903	0.885000	0.34714	0.474000	0.32979	2.611000	0.46334	2.792000	0.96026	0.557000	0.71058	CGT		0.448	NRCAM-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337942.2	NM_001037132		5	41	0	0	0	1	0	5	41					A	107820829	G	A	107820829	3	1	435	1	0	0	0	0	1	0	0	0	10644	1145	40	1	1291	1	NRCAM	7	107820829	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	64268	107820829	51317834	3758	24683											
NRCAM	4897	broad.mit.edu	37	chr7	107834557	107834557	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcactttgcattcaaaggaCaccatgctccctctttgcac	9	13	5	14	0	3	0	2	0	1	0	4	1	4	1	2	1	3	3	2	1	1	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:107834557C>T	ENST00000425651.2	-	14	1688	c.1689G>A	c.(1687-1689)gtG>gtA	p.V563V	NRCAM_ENST00000379028.3_Silent_p.V563V|NRCAM_ENST00000413765.2_Silent_p.V544V|NRCAM_ENST00000379024.4_Silent_p.V544V|NRCAM_ENST00000379022.4_Silent_p.V563V|NRCAM_ENST00000351718.4_Silent_p.V557V	NM_001037132.2	NP_001032209.1	Q92823	NRCAM_HUMAN	neuronal cell adhesion molecule	563	Ig-like 6.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|axonogenesis (GO:0007409)|central nervous system development (GO:0007417)|clustering of voltage-gated sodium channels (GO:0045162)|heterotypic cell-cell adhesion (GO:0034113)|neuron migration (GO:0001764)|neuronal action potential propagation (GO:0019227)|positive regulation of neuron differentiation (GO:0045666)|protein localization (GO:0008104)|regulation of axon extension (GO:0030516)|retinal ganglion cell axon guidance (GO:0031290)|single organismal cell-cell adhesion (GO:0016337)|synapse assembly (GO:0007416)	axon initial segment (GO:0043194)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)	ankyrin binding (GO:0030506)			breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(1)|lung(36)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	65						ATTCAAAGGACACCATGCTCC	0.453																																						ENST00000379028.3																			0				breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(1)|lung(36)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	65						c.(1687-1689)gtG>gtA		neuronal cell adhesion molecule							205	144	165					7																	107834557		2203	4300	6503	SO:0001819	synonymous_variant	4897				angiogenesis|axon guidance|axonal fasciculation|cell-cell adhesion|central nervous system development|clustering of voltage-gated sodium channels|neuron migration|positive regulation of neuron differentiation|regulation of axon extension|synapse assembly	external side of plasma membrane|integral to plasma membrane	ankyrin binding	g.chr7:107834557C>T		CCDS5751.1, CCDS47686.1, CCDS55153.1, CCDS75652.1	7q31	2013-02-11			ENSG00000091129	ENSG00000091129		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	7994	protein-coding gene	gene with protein product	"NgCAM-related cell adhesion molecule"	601581				8812479	Standard	NM_001037132		Approved	KIAA0343, Bravo	uc022aka.1	Q92823	OTTHUMG00000154973	ENST00000425651.2:c.1689G>A	7.37:g.107834557C>T						NRCAM_ENST00000413765.2_Silent_p.V544V|NRCAM_ENST00000379022.4_Silent_p.V563V|NRCAM_ENST00000425651.2_Silent_p.V563V|NRCAM_ENST00000351718.4_Silent_p.V557V|NRCAM_ENST00000379024.4_Silent_p.V544V	p.V563V			Q92823	NRCAM_HUMAN			17	2159	-			563			Ig-like 6.		A4D0S3|E9PDA4|O15051|O15179|Q14BM2|Q9UHI3|Q9UHI4	Silent	SNP	ENST00000425651.2	37	c.1689G>A	CCDS47686.1																																																																																				0.453	NRCAM-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337942.2	NM_001037132		32	57	0	0	0	1	0	32	57					T	107834557	C	T	107834557	2	4	435	1	0	0	0	0	0	0	0	1	10644	465	17	3		3	NRCAM	7	107834557	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	13728	107834557	51304106	3759	24684											
PNPLA8	50640	broad.mit.edu	37	chr7	108155563	108155563	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggcttaaattgagctaaacGtgaaatcatttcattttgat	13	16	7	5	1	2	3	2	3	0	0	2	3	2	3	0	1	2	2	0	1	5	6			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:108155563G>A	ENST00000422087.1	-	4	779	c.373C>T	c.(373-375)Cgt>Tgt	p.R125C	PNPLA8_ENST00000453144.1_Missense_Mutation_p.R25C|PNPLA8_ENST00000257694.8_Missense_Mutation_p.R125C|PNPLA8_ENST00000388728.5_Missense_Mutation_p.R125C|PNPLA8_ENST00000436062.1_Missense_Mutation_p.R125C|PNPLA8_ENST00000483879.1_Intron|PNPLA8_ENST00000426128.2_Missense_Mutation_p.R125C	NM_015723.3	NP_056538.1	Q9NP80	PLPL8_HUMAN	patatin-like phospholipase domain containing 8	125					arachidonic acid metabolic process (GO:0019369)|arachidonic acid secretion (GO:0050482)|cell death (GO:0008219)|fatty acid metabolic process (GO:0006631)|glycerophospholipid biosynthetic process (GO:0046474)|linoleic acid metabolic process (GO:0043651)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylcholine catabolic process (GO:0034638)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylethanolamine catabolic process (GO:0046338)|phospholipid metabolic process (GO:0006644)|prostaglandin biosynthetic process (GO:0001516)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|calcium-independent phospholipase A2 activity (GO:0047499)|lysophospholipase activity (GO:0004622)			breast(5)|endometrium(1)|kidney(3)|large_intestine(5)|lung(12)|upper_aerodigestive_tract(3)	29						TGAGCTAAACGTGAAATCATT	0.338																																						ENST00000426128.2																			0				breast(5)|endometrium(1)|kidney(3)|large_intestine(5)|lung(12)|upper_aerodigestive_tract(3)	29						c.(373-375)Cgt>Tgt		patatin-like phospholipase domain containing 8							56	60	58					7																	108155563		2203	4299	6502	SO:0001583	missense	50640				fatty acid metabolic process|lipid catabolic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|membrane fraction|perinuclear region of cytoplasm|peroxisomal membrane	ATP binding|calcium-independent phospholipase A2 activity|lysophospholipase activity	g.chr7:108155563G>A	AF217519	CCDS34733.1, CCDS59075.1, CCDS59508.1	7q31	2012-07-31			ENSG00000135241	ENSG00000135241		"Patatin-like phospholipase domain containing"	28900	protein-coding gene	gene with protein product		612123				10744668, 10833412, 16799181, 19029121	Standard	NM_015723		Approved	IPLA2G, IPLA2-2, iPLA2gamma	uc003vfj.2	Q9NP80	OTTHUMG00000154870	ENST00000422087.1:c.373C>T	7.37:g.108155563G>A	ENSP00000410804:p.Arg125Cys					PNPLA8_ENST00000453144.1_Missense_Mutation_p.R25C|PNPLA8_ENST00000388728.5_Missense_Mutation_p.R125C|PNPLA8_ENST00000483879.1_Intron|PNPLA8_ENST00000422087.1_Missense_Mutation_p.R125C|PNPLA8_ENST00000436062.1_Missense_Mutation_p.R125C|PNPLA8_ENST00000257694.8_Missense_Mutation_p.R125C	p.R125C	NM_001256009.1	NP_001242938.1	Q9NP80	PLPL8_HUMAN			2	498	-			125					A4D0S1|C9JZI4|O95035|Q8N3I3|Q9H7T5|Q9NR17|Q9NUN2|Q9NZ79	Missense_Mutation	SNP	ENST00000422087.1	37	c.373C>T	CCDS34733.1	.	.	.	.	.	.	.	.	.	.	G	13.84	2.356068	0.41700	.	.	ENSG00000135241	ENST00000426128;ENST00000257694;ENST00000388728;ENST00000422087;ENST00000453144;ENST00000436062;ENST00000453085;ENST00000427008	D;D;D;D;D;D;D	0.98777	-3.97;-5.13;-3.96;-5.13;-5.05;-5.13;-5.04	5.78	4.91	0.64330	.	0.172969	0.51477	N	0.000085	D	0.97368	0.9139	M	0.63843	1.955	0.53005	D	0.999961	B	0.21225	0.053	B	0.16289	0.015	D	0.95906	0.8919	10	0.62326	D	0.03	.	14.8785	0.70513	0.0688:0.0:0.9311:0.0	.	125	Q9NP80	PLPL8_HUMAN	C	125;125;125;125;25;125;25;125	ENSP00000394988:R125C;ENSP00000257694:R125C;ENSP00000373380:R125C;ENSP00000410804:R125C;ENSP00000387789:R25C;ENSP00000406779:R125C;ENSP00000402274:R25C	ENSP00000257694:R125C	R	-	1	0	PNPLA8	107942799	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	3.950000	0.56676	1.457000	0.47850	0.591000	0.81541	CGT		0.338	PNPLA8-002	NOVEL	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337475.1	NM_015723		28	43	0	0	0	1	0	28	43					A	108155563	G	A	108155563	3	1	435	1	0	0	0	0	1	0	0	0	12171	1145	40	1	2011	1	PNPLA8	7	108155563	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	321006	108155563	50983100	3760	24685											
DOCK4	9732	broad.mit.edu	37	chr7	111386472	111386472	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatattctttgacaaagaatGcctagtaagggaaaggagaa	17	10	10	4	0	1	3	0	1	1	2	1	5	1	4	1	2	1	1	1	2	8	6			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:111386472G>A	ENST00000437633.1	-	43	4824	c.4568C>T	c.(4567-4569)gCa>gTa	p.A1523V	DOCK4_ENST00000494651.2_Splice_Site_p.A406V|DOCK4_ENST00000428084.1_Splice_Site_p.A1532V	NM_014705.3	NP_055520.3	Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4	1523	DHR-2.				cell chemotaxis (GO:0060326)|positive regulation of Rac GTPase activity (GO:0032855)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)|stereocilium (GO:0032420)|stereocilium bundle (GO:0032421)	guanyl-nucleotide exchange factor activity (GO:0005085)|PDZ domain binding (GO:0030165)|Rac GTPase activator activity (GO:0030675)|Rac GTPase binding (GO:0048365)|receptor tyrosine kinase binding (GO:0030971)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72		Acute lymphoblastic leukemia(1;0.0441)				GACAAAGAATGCCTAGTAAGG	0.413																																						ENST00000428084.1																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72						c.e44-1		dedicator of cytokinesis 4							71	66	68					7																	111386472		1861	4104	5965	SO:0001630	splice_region_variant	9732				cell chemotaxis	cytosol|endomembrane system|membrane|stereocilium	GTP binding|guanyl-nucleotide exchange factor activity|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|receptor tyrosine kinase binding|SH3 domain binding	g.chr7:111386472G>A		CCDS47688.1	7q31.1	2007-08-07			ENSG00000128512	ENSG00000128512			19192	protein-coding gene	gene with protein product		607679				12432077, 12628187	Standard	XM_006716188		Approved	FLJ34238, KIAA0716	uc003vfx.3	Q8N1I0	OTTHUMG00000155077	ENST00000437633.1:c.4567-1C>T	7.37:g.111386472G>A						DOCK4_ENST00000437633.1_Splice_Site_p.A1523_splice|DOCK4_ENST00000494651.2_Splice_Site_p.A406_splice	p.A1532_splice			Q8N1I0	DOCK4_HUMAN			44	4867	-		Acute lymphoblastic leukemia(1;0.0441)	1523			DHR-2.		O14584|O94824|Q8NB45	Splice_Site	SNP	ENST00000437633.1	37	c.4593_splice	CCDS47688.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	29.9|29.9	5.047449|5.047449	0.93740|0.93740	.|.	.|.	ENSG00000128512|ENSG00000128512	ENST00000352877;ENST00000428084;ENST00000494651;ENST00000437633;ENST00000342288|ENST00000423057;ENST00000445943	T;T;T|.	0.15017|.	2.46;2.46;2.46|.	4.95|4.95	4.95|4.95	0.65309|0.65309	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.71829|0.71829	0.3386|0.3386	L|L	0.57536|0.57536	1.79|1.79	0.80722|0.80722	D|D	1|1	P;P;D;D;D|.	0.71674|.	0.938;0.924;0.998;0.998;0.997|.	P;P;D;D;D|.	0.70935|.	0.874;0.747;0.971;0.951;0.919|.	T|T	0.69705|0.69705	-0.5073|-0.5073	10|5	0.87932|.	D|.	0|.	.|.	18.375|18.375	0.90432|0.90432	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	430;406;1568;1523;1532|.	B7Z2K9;F5GXW1;Q149N5;Q8N1I0;Q8N1I0-2|.	.;.;.;DOCK4_HUMAN;.|.	V|Y	1511;1532;406;1523;1520|984;1556	ENSP00000410746:A1532V;ENSP00000440944:A406V;ENSP00000404179:A1523V|.	ENSP00000345432:A1520V|.	A|H	-|-	2|1	0|0	DOCK4|DOCK4	111173708|111173708	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.975000|0.975000	0.68041|0.68041	9.578000|9.578000	0.98200|0.98200	2.563000|2.563000	0.86464|0.86464	0.650000|0.650000	0.86243|0.86243	GCA|CAT		0.413	DOCK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338369.4	NM_014705	Missense_Mutation	4	9	0	0	0	1	0	4	9					A	111386472	G	A	111386472	5	1	435	1	0	0	0	0	0	0	1	0	4689	1333	46	3	1372	3	DOCK4	7	111386472	Splice_Site	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	3230909	111386472	47752191	3761	24686											
DOCK4	9732	broad.mit.edu	37	chr7	111387340	111387340	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tacctcttgatacctggaaaCgccaccattaactgcagcat	12	10	6	13	1	1	1	0	1	1	0	1	2	1	2	4	1	6	2	4	1	4	4	rs199527812		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:111387340C>T	ENST00000437633.1	-	42	4805	c.4549G>A	c.(4549-4551)Gtt>Att	p.V1517I	DOCK4_ENST00000494651.2_Missense_Mutation_p.V400I|DOCK4_ENST00000428084.1_Missense_Mutation_p.V1526I	NM_014705.3	NP_055520.3	Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4	1517	DHR-2.				cell chemotaxis (GO:0060326)|positive regulation of Rac GTPase activity (GO:0032855)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)|stereocilium (GO:0032420)|stereocilium bundle (GO:0032421)	guanyl-nucleotide exchange factor activity (GO:0005085)|PDZ domain binding (GO:0030165)|Rac GTPase activator activity (GO:0030675)|Rac GTPase binding (GO:0048365)|receptor tyrosine kinase binding (GO:0030971)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72		Acute lymphoblastic leukemia(1;0.0441)				TACCTGGAAACGCCACCATTA	0.383																																						ENST00000428084.1																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72						c.(4576-4578)Gtt>Att		dedicator of cytokinesis 4		C	ILE/VAL	0,3968		0,0,1984	98	94	95		4549	5.3	0.9	7		95	1,8351		0,1,4175	yes	missense	DOCK4	NM_014705.3	29	0,1,6159	TT,TC,CC		0.012,0.0,0.0081	benign	1517/1967	111387340	1,12319	1984	4176	6160	SO:0001583	missense	9732				cell chemotaxis	cytosol|endomembrane system|membrane|stereocilium	GTP binding|guanyl-nucleotide exchange factor activity|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|receptor tyrosine kinase binding|SH3 domain binding	g.chr7:111387340C>T		CCDS47688.1	7q31.1	2007-08-07			ENSG00000128512	ENSG00000128512			19192	protein-coding gene	gene with protein product		607679				12432077, 12628187	Standard	XM_006716188		Approved	FLJ34238, KIAA0716	uc003vfx.3	Q8N1I0	OTTHUMG00000155077	ENST00000437633.1:c.4549G>A	7.37:g.111387340C>T	ENSP00000404179:p.Val1517Ile					DOCK4_ENST00000437633.1_Missense_Mutation_p.V1517I|DOCK4_ENST00000494651.2_Missense_Mutation_p.V400I	p.V1526I			Q8N1I0	DOCK4_HUMAN			43	4848	-		Acute lymphoblastic leukemia(1;0.0441)	1517			DHR-2.		O14584|O94824|Q8NB45	Missense_Mutation	SNP	ENST00000437633.1	37	c.4576G>A	CCDS47688.1	.	.	.	.	.	.	.	.	.	.	C	5.021	0.189594	0.09547	0.0	1.2E-4	ENSG00000128512	ENST00000352877;ENST00000428084;ENST00000494651;ENST00000437633;ENST00000342288	T;T;T	0.18174	2.23;2.23;2.23	5.27	5.27	0.74061	.	0.061432	0.64402	D	0.000003	T	0.06325	0.0163	N	0.01015	-1.05	0.41016	D	0.985042	B;B;B;B;B	0.18610	0.016;0.024;0.029;0.029;0.024	B;B;B;B;B	0.23150	0.008;0.007;0.044;0.02;0.005	T	0.27536	-1.0071	10	0.02654	T	1	.	19.0847	0.93198	0.0:1.0:0.0:0.0	.	424;400;1562;1517;1526	B7Z2K9;F5GXW1;Q149N5;Q8N1I0;Q8N1I0-2	.;.;.;DOCK4_HUMAN;.	I	1505;1526;400;1517;1514	ENSP00000410746:V1526I;ENSP00000440944:V400I;ENSP00000404179:V1517I	ENSP00000345432:V1514I	V	-	1	0	DOCK4	111174576	0.998000	0.40836	0.861000	0.33841	0.940000	0.58332	3.216000	0.51176	2.748000	0.94277	0.655000	0.94253	GTT		0.383	DOCK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338369.4	NM_014705		7	14	0	0	0	1	0	7	14					T	111387340	C	T	111387340	3	4	435	1	0	0	0	0	1	0	0	0	4689	536	19	1	1395	1	DOCK4	7	111387340	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	868	111387340	47751323	3762	24687											
DOCK4	9732	broad.mit.edu	37	chr7	111400346	111400346	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tggaaggcttccagcctctcGtagtcatgccctcgacacac	8	9	9	15	2	2	0	1	0	1	0	5	2	3	1	3	2	2	2	3	2	2	2	rs137868719		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:111400346G>A	ENST00000437633.1	-	39	4282	c.4026C>T	c.(4024-4026)taC>taT	p.Y1342Y	DOCK4_ENST00000494651.2_Silent_p.Y225Y|DOCK4_ENST00000428084.1_Silent_p.Y1351Y	NM_014705.3	NP_055520.3	Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4	1342	DHR-2.				cell chemotaxis (GO:0060326)|positive regulation of Rac GTPase activity (GO:0032855)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)|stereocilium (GO:0032420)|stereocilium bundle (GO:0032421)	guanyl-nucleotide exchange factor activity (GO:0005085)|PDZ domain binding (GO:0030165)|Rac GTPase activator activity (GO:0030675)|Rac GTPase binding (GO:0048365)|receptor tyrosine kinase binding (GO:0030971)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72		Acute lymphoblastic leukemia(1;0.0441)				CCAGCCTCTCGTAGTCATGCC	0.493													G|||	1	0.000199681	8e-04	0	5008	,	,		20615	0		0	False		,,,				2504	0					ENST00000428084.1																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72						c.(4051-4053)taC>taT		dedicator of cytokinesis 4							149	151	151					7																	111400346		2058	4205	6263	SO:0001819	synonymous_variant	9732				cell chemotaxis	cytosol|endomembrane system|membrane|stereocilium	GTP binding|guanyl-nucleotide exchange factor activity|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|receptor tyrosine kinase binding|SH3 domain binding	g.chr7:111400346G>A		CCDS47688.1	7q31.1	2007-08-07			ENSG00000128512	ENSG00000128512			19192	protein-coding gene	gene with protein product		607679				12432077, 12628187	Standard	XM_006716188		Approved	FLJ34238, KIAA0716	uc003vfx.3	Q8N1I0	OTTHUMG00000155077	ENST00000437633.1:c.4026C>T	7.37:g.111400346G>A						DOCK4_ENST00000437633.1_Silent_p.Y1342Y|DOCK4_ENST00000494651.2_Silent_p.Y225Y	p.Y1351Y			Q8N1I0	DOCK4_HUMAN			40	4325	-		Acute lymphoblastic leukemia(1;0.0441)	1342			DHR-2.		O14584|O94824|Q8NB45	Silent	SNP	ENST00000437633.1	37	c.4053C>T	CCDS47688.1	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	G	9.818	1.185103	0.21870	.	.	ENSG00000128512	ENST00000423057;ENST00000445943	.	.	.	4.72	-6.33	0.01988	.	.	.	.	.	T	0.62575	0.2439	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.65384	-0.6181	4	.	.	.	.	14.9586	0.71138	0.8313:0.0:0.1687:0.0	.	.	.	.	M	803;1375	.	.	T	-	2	0	DOCK4	111187582	0.978000	0.34361	0.907000	0.35723	0.992000	0.81027	0.232000	0.17891	-1.146000	0.02854	-0.423000	0.05987	ACG		0.493	DOCK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338369.4	NM_014705		4	115	0	0	0	1	0	4	115					A	111400346	G	A	111400346	2	1	435	1	0	0	0	0	0	0	0	1	4689	1140	40	1		1	DOCK4	7	111400346	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	13006	111400346	47738317	3763	24688											
DOCK4	9732	broad.mit.edu	37	chr7	111617288	111617288	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ttcatctggacaaagaggtgGtgactgctggcctgcaccgg	8	9	14	10	1	2	2	1	1	1	1	2	3	2	3	2	5	2	2	2	5	1	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:111617288G>A	ENST00000437633.1	-	8	856	c.600C>T	c.(598-600)caC>caT	p.H200H	DOCK4_ENST00000428084.1_Silent_p.H200H|DOCK4_ENST00000476846.1_5'UTR	NM_014705.3	NP_055520.3	Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4	200					cell chemotaxis (GO:0060326)|positive regulation of Rac GTPase activity (GO:0032855)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)|stereocilium (GO:0032420)|stereocilium bundle (GO:0032421)	guanyl-nucleotide exchange factor activity (GO:0005085)|PDZ domain binding (GO:0030165)|Rac GTPase activator activity (GO:0030675)|Rac GTPase binding (GO:0048365)|receptor tyrosine kinase binding (GO:0030971)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72		Acute lymphoblastic leukemia(1;0.0441)				CAAAGAGGTGGTGACTGCTGG	0.502																																						ENST00000428084.1																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72						c.(598-600)caC>caT		dedicator of cytokinesis 4							78	79	79					7																	111617288		1984	4164	6148	SO:0001819	synonymous_variant	9732				cell chemotaxis	cytosol|endomembrane system|membrane|stereocilium	GTP binding|guanyl-nucleotide exchange factor activity|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|receptor tyrosine kinase binding|SH3 domain binding	g.chr7:111617288G>A		CCDS47688.1	7q31.1	2007-08-07			ENSG00000128512	ENSG00000128512			19192	protein-coding gene	gene with protein product		607679				12432077, 12628187	Standard	XM_006716188		Approved	FLJ34238, KIAA0716	uc003vfx.3	Q8N1I0	OTTHUMG00000155077	ENST00000437633.1:c.600C>T	7.37:g.111617288G>A						DOCK4_ENST00000476846.1_5'UTR|DOCK4_ENST00000437633.1_Silent_p.H200H	p.H200H			Q8N1I0	DOCK4_HUMAN			8	872	-		Acute lymphoblastic leukemia(1;0.0441)	200					O14584|O94824|Q8NB45	Silent	SNP	ENST00000437633.1	37	c.600C>T	CCDS47688.1	.	.	.	.	.	.	.	.	.	.	G	9.407	1.079398	0.20227	.	.	ENSG00000128512	ENST00000445943	.	.	.	5.43	3.36	0.38483	.	.	.	.	.	T	0.58133	0.2101	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.51841	-0.8654	4	.	.	.	.	8.3394	0.32235	0.2777:0.0:0.7223:0.0	.	.	.	.	I	188	.	.	T	-	2	0	DOCK4	111404524	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	1.724000	0.38064	0.578000	0.29487	0.563000	0.77884	ACC		0.502	DOCK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338369.4	NM_014705		7	9	0	0	0	1	0	7	9					A	111617288	G	A	111617288	2	1	435	1	0	0	0	0	0	0	0	1	4689	1252	44	3		3	DOCK4	7	111617288	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	216942	111617288	47521375	3764	24689											
IFRD1	3475	broad.mit.edu	37	chr7	112098937	112098937	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	taagagtgatgagcaacgtgCagctgcagcgttagcatctg	11	9	13	8	2	1	3	0	2	1	1	1	3	1	3	0	0	7	6	0	0	3	2	rs11542463		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:112098937C>T	ENST00000403825.3	+	5	692	c.431C>T	c.(430-432)gCa>gTa	p.A144V	IFRD1_ENST00000486688.1_3'UTR|IFRD1_ENST00000005558.4_Missense_Mutation_p.A144V|IFRD1_ENST00000535603.1_Missense_Mutation_p.A94V	NM_001550.3	NP_001541.2	O00458	IFRD1_HUMAN	interferon-related developmental regulator 1	144	Poly-Ala.				adult somatic muscle development (GO:0007527)|multicellular organismal development (GO:0007275)|myoblast fate determination (GO:0007518)	nucleus (GO:0005634)				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(5)|urinary_tract(1)	15						GAGCAACGTGCAGCTGCAGCG	0.388																																						ENST00000403825.3																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(5)|urinary_tract(1)	15						c.(430-432)gCa>gTa		interferon-related developmental regulator 1							96	94	95					7																	112098937		2203	4300	6503	SO:0001583	missense	3475				multicellular organismal development|myoblast cell fate determination		binding	g.chr7:112098937C>T	Y10313	CCDS34736.1, CCDS56504.1	7q31.1	2005-10-17			ENSG00000006652	ENSG00000006652			5456	protein-coding gene	gene with protein product		603502				9722946	Standard	NM_001550		Approved	PC4, TIS7	uc003vgh.3	O00458	OTTHUMG00000155124	ENST00000403825.3:c.431C>T	7.37:g.112098937C>T	ENSP00000384477:p.Ala144Val					IFRD1_ENST00000005558.4_Missense_Mutation_p.A144V|IFRD1_ENST00000535603.1_Missense_Mutation_p.A94V|IFRD1_ENST00000486688.1_3'UTR	p.A144V	NM_001550.3	NP_001541.2	O00458	IFRD1_HUMAN			5	692	+			144			Poly-Ala.		B7Z5G1|O75234|Q5U013|Q9BVE4	Missense_Mutation	SNP	ENST00000403825.3	37	c.431C>T	CCDS34736.1	.	.	.	.	.	.	.	.	.	.	C	17.50	3.404625	0.62288	.	.	ENSG00000006652	ENST00000005558;ENST00000403825;ENST00000476927;ENST00000440625;ENST00000535603	T;T;T;T;T	0.68479	-0.26;-0.26;-0.33;1.21;-0.26	5.48	5.48	0.80851	Interferon-related developmental regulator, N-terminal (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.044969	0.85682	D	0.000000	T	0.58566	0.2131	L	0.38175	1.15	0.80722	D	1	B	0.25048	0.117	B	0.31016	0.123	T	0.55127	-0.8189	10	0.37606	T	0.19	-14.2747	12.9902	0.58614	0.0:0.9256:0.0:0.0744	rs11542463	144	O00458	IFRD1_HUMAN	V	144;144;94;94;94	ENSP00000005558:A144V;ENSP00000384477:A144V;ENSP00000437250:A94V;ENSP00000402177:A94V;ENSP00000439188:A94V	ENSP00000005558:A144V	A	+	2	0	IFRD1	111886173	1.000000	0.71417	0.883000	0.34634	0.819000	0.46315	5.782000	0.68973	2.733000	0.93635	0.591000	0.81541	GCA		0.388	IFRD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338700.1	NM_001550		6	38	0	0	0	1	0	6	38					T	112098937	C	T	112098937	3	4	435	1	0	0	0	0	1	0	0	0	7553	710	25	3	449	3	IFRD1	7	112098937	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	481649	112098937	47039726	3765	24690											
TMEM168	64418	broad.mit.edu	37	chr7	112412892	112412892	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cactgtaatacaaaatatacGtatcatgtctgggtccatcc	13	12	6	10	1	2	0	1	0	1	0	4	0	4	0	2	1	2	2	2	1	7	5	rs150249344	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:112412892G>A	ENST00000312814.6	-	4	2050	c.1490C>T	c.(1489-1491)aCg>aTg	p.T497M	TMEM168_ENST00000480969.1_5'Flank|TMEM168_ENST00000454074.1_Missense_Mutation_p.T497M	NM_022484.4	NP_071929.3	Q9H0V1	TM168_HUMAN	transmembrane protein 168	497						integral component of membrane (GO:0016021)|transport vesicle (GO:0030133)				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|stomach(1)	32						CAAAATATACGTATCATGTCT	0.438													G|||	2	0.000399361	0.0015	0	5008	,	,		18883	0		0	False		,,,				2504	0					ENST00000312814.5																			0				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|stomach(1)	32						c.(1489-1491)aCg>aTg		transmembrane protein 168		G	MET/THR	4,4402	8.1+/-20.4	0,4,2199	120	100	107		1490	5	0.9	7	dbSNP_134	107	0,8600		0,0,4300	yes	missense	TMEM168	NM_022484.4	81	0,4,6499	AA,AG,GG		0.0,0.0908,0.0308	probably-damaging	497/698	112412892	4,13002	2203	4300	6503	SO:0001583	missense	64418					integral to membrane|transport vesicle		g.chr7:112412892G>A		CCDS5757.1	7q31.32	2006-08-08			ENSG00000146802	ENSG00000146802			25826	protein-coding gene	gene with protein product						12477932	Standard	XM_005250527		Approved	DKFZp564C012,FLJ13576	uc003vgn.3	Q9H0V1	OTTHUMG00000155188	ENST00000312814.6:c.1490C>T	7.37:g.112412892G>A	ENSP00000323068:p.Thr497Met					TMEM168_ENST00000454074.1_Missense_Mutation_p.T497M	p.T497M	NM_022484.4	NP_071929.3	Q9H0V1	TM168_HUMAN			4	2050	-			497					A4D0T9|B4DDS0|Q8NEK4|Q9H8J2	Missense_Mutation	SNP	ENST00000312814.6	37	c.1490C>T	CCDS5757.1	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	G	24.8	4.575666	0.86645	9.08E-4	0.0	ENSG00000146802	ENST00000312814;ENST00000454074;ENST00000447395;ENST00000449743	.	.	.	5.92	5.04	0.67666	.	0.000000	0.85682	D	0.000000	T	0.51719	0.1691	L	0.59436	1.845	0.80722	D	1	P	0.38020	0.615	B	0.28638	0.092	T	0.58758	-0.7580	9	0.87932	D	0	-1.0148	15.3031	0.73969	0.0672:0.0:0.9328:0.0	.	497	Q9H0V1	TM168_HUMAN	M	497;497;113;113	.	ENSP00000323068:T497M	T	-	2	0	TMEM168	112200128	1.000000	0.71417	0.925000	0.36789	0.972000	0.66771	9.869000	0.99810	1.513000	0.48852	0.655000	0.94253	ACG		0.438	TMEM168-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338696.4	NM_022484		28	32	0	0	0	1	0	28	32					A	112412892	G	A	112412892	3	1	435	1	0	0	0	0	1	0	0	0	16080	1145	40	1	611	1	TMEM168	7	112412892	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	313955	112412892	46725771	3766	24691											
TMEM168	64418	broad.mit.edu	37	chr7	112423833	112423833	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgaaatcaagcaaaaatggcGcatccctttggatgccatga	14	9	9	9	1	1	2	1	2	0	0	2	3	2	3	2	2	2	2	2	2	4	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:112423833G>A	ENST00000312814.6	-	2	1608	c.1048C>T	c.(1048-1050)Cgc>Tgc	p.R350C	TMEM168_ENST00000454074.1_Missense_Mutation_p.R350C	NM_022484.4	NP_071929.3	Q9H0V1	TM168_HUMAN	transmembrane protein 168	350						integral component of membrane (GO:0016021)|transport vesicle (GO:0030133)				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|stomach(1)	32						CAAAAATGGCGCATCCCTTTG	0.403																																						ENST00000312814.5																			0				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|stomach(1)	32						c.(1048-1050)Cgc>Tgc		transmembrane protein 168							149	152	151					7																	112423833		2203	4300	6503	SO:0001583	missense	64418					integral to membrane|transport vesicle		g.chr7:112423833G>A		CCDS5757.1	7q31.32	2006-08-08			ENSG00000146802	ENSG00000146802			25826	protein-coding gene	gene with protein product						12477932	Standard	XM_005250527		Approved	DKFZp564C012,FLJ13576	uc003vgn.3	Q9H0V1	OTTHUMG00000155188	ENST00000312814.6:c.1048C>T	7.37:g.112423833G>A	ENSP00000323068:p.Arg350Cys					TMEM168_ENST00000454074.1_Missense_Mutation_p.R350C	p.R350C	NM_022484.4	NP_071929.3	Q9H0V1	TM168_HUMAN			2	1608	-			350					A4D0T9|B4DDS0|Q8NEK4|Q9H8J2	Missense_Mutation	SNP	ENST00000312814.6	37	c.1048C>T	CCDS5757.1	.	.	.	.	.	.	.	.	.	.	G	17.13	3.309934	0.60414	.	.	ENSG00000146802	ENST00000312814;ENST00000454074;ENST00000441474	.	.	.	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	T	0.79251	0.4414	L	0.61218	1.895	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.78846	-0.2043	9	0.87932	D	0	-19.8485	20.6593	0.99626	0.0:0.0:1.0:0.0	.	350	Q9H0V1	TM168_HUMAN	C	350;350;2	.	ENSP00000323068:R350C	R	-	1	0	TMEM168	112211069	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.332000	0.65911	2.885000	0.99019	0.655000	0.94253	CGC		0.403	TMEM168-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338696.4	NM_022484		51	75	0	0	0	1	0	51	75					A	112423833	G	A	112423833	3	1	435	1	0	0	0	0	1	0	0	0	16080	1087	38	1	1061	1	TMEM168	7	112423833	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	10941	112423833	46714830	3767	24692											
TMEM168	64418	broad.mit.edu	37	chr7	112424649	112424649	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atagtaatagagtatgctggCgattccaagaacaaaaagac	18	8	9	6	1	0	3	0	0	0	3	1	4	1	3	1	1	2	3	1	1	8	5	rs374434489		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:112424649C>T	ENST00000312814.6	-	2	792	c.232G>A	c.(232-234)Gcc>Acc	p.A78T	TMEM168_ENST00000454074.1_Missense_Mutation_p.A78T	NM_022484.4	NP_071929.3	Q9H0V1	TM168_HUMAN	transmembrane protein 168	78						integral component of membrane (GO:0016021)|transport vesicle (GO:0030133)				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|stomach(1)	32						AGTATGCTGGCGATTCCAAGA	0.343																																						ENST00000312814.5																			0				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|stomach(1)	32						c.(232-234)Gcc>Acc		transmembrane protein 168		C	THR/ALA	0,4406		0,0,2203	58	60	59		232	5.8	1	7		59	1,8599	1.2+/-3.3	0,1,4299	no	missense	TMEM168	NM_022484.4	58	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	78/698	112424649	1,13005	2203	4300	6503	SO:0001583	missense	64418					integral to membrane|transport vesicle		g.chr7:112424649C>T		CCDS5757.1	7q31.32	2006-08-08			ENSG00000146802	ENSG00000146802			25826	protein-coding gene	gene with protein product						12477932	Standard	XM_005250527		Approved	DKFZp564C012,FLJ13576	uc003vgn.3	Q9H0V1	OTTHUMG00000155188	ENST00000312814.6:c.232G>A	7.37:g.112424649C>T	ENSP00000323068:p.Ala78Thr					TMEM168_ENST00000454074.1_Missense_Mutation_p.A78T	p.A78T	NM_022484.4	NP_071929.3	Q9H0V1	TM168_HUMAN			2	792	-			78					A4D0T9|B4DDS0|Q8NEK4|Q9H8J2	Missense_Mutation	SNP	ENST00000312814.6	37	c.232G>A	CCDS5757.1	.	.	.	.	.	.	.	.	.	.	C	25.8	4.677328	0.88445	0.0	1.16E-4	ENSG00000146802	ENST00000312814;ENST00000454074	.	.	.	5.84	5.84	0.93424	.	0.000000	0.85682	D	0.000000	T	0.78233	0.4251	L	0.58101	1.795	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.78086	-0.2341	9	0.66056	D	0.02	-25.724	20.1535	0.98095	0.0:1.0:0.0:0.0	.	78	Q9H0V1	TM168_HUMAN	T	78	.	ENSP00000323068:A78T	A	-	1	0	TMEM168	112211885	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.818000	0.86416	2.764000	0.94973	0.650000	0.86243	GCC		0.343	TMEM168-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338696.4	NM_022484		23	40	0	0	0	1	0	23	40					T	112424649	C	T	112424649	3	4	435	1	0	0	0	0	1	0	0	0	16080	768	27	1	1877	1	TMEM168	7	112424649	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	816	112424649	46714014	3768	24693											
C7orf60	154743	broad.mit.edu	37	chr7	112462157	112462157	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tccagcttttcatcatcataGcatgacggttctgatgggag	9	13	10	9	1	4	2	3	2	1	0	5	3	5	3	1	2	2	3	1	2	1	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:112462157G>A	ENST00000297145.4	-	5	1025	c.860C>T	c.(859-861)gCt>gTt	p.A287V	C7orf60_ENST00000485446.1_5'Flank	NM_152556.2	NP_689769.2	Q1RMZ1	BMT2_HUMAN	chromosome 7 open reading frame 60	287							rRNA (adenine) methyltransferase activity (GO:0016433)			breast(1)|endometrium(2)|lung(7)|ovary(3)|prostate(2)|skin(1)|urinary_tract(1)	17						CATCATCATAGCATGACGGTT	0.398																																						ENST00000297145.4																			0				breast(1)|endometrium(2)|lung(7)|ovary(3)|prostate(2)|skin(1)|urinary_tract(1)	17						c.(859-861)gCt>gTt		chromosome 7 open reading frame 60							119	108	112					7																	112462157		1864	4110	5974	SO:0001583	missense	154743							g.chr7:112462157G>A		CCDS43634.1	7q31.1	2011-01-11	2008-06-19		ENSG00000164603	ENSG00000164603			26475	protein-coding gene	gene with protein product	"hypothetical protein FLJ31818"						Standard	NM_152556		Approved	DKFZp762M126, FLJ31818	uc003vgo.1	Q1RMZ1	OTTHUMG00000155233	ENST00000297145.4:c.860C>T	7.37:g.112462157G>A	ENSP00000297145:p.Ala287Val						p.A287V	NM_152556.2	NP_689769.2	Q1RMZ1	CG060_HUMAN			5	1025	-			287					Q8N3D0|Q96MV7	Missense_Mutation	SNP	ENST00000297145.4	37	c.860C>T	CCDS43634.1	.	.	.	.	.	.	.	.	.	.	G	24.7	4.562224	0.86335	.	.	ENSG00000164603	ENST00000297145;ENST00000432572;ENST00000358032	.	.	.	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	D	0.84005	0.5377	M	0.81497	2.545	0.80722	D	1	D;D	0.76494	0.999;0.959	D;P	0.83275	0.996;0.716	D	0.84882	0.0831	9	0.87932	D	0	-11.6085	20.327	0.98704	0.0:0.0:1.0:0.0	.	234;287	B4DST1;Q1RMZ1	.;CG060_HUMAN	V	287;269;234	.	ENSP00000297145:A287V	A	-	2	0	C7orf60	112249393	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.794000	0.96219	0.650000	0.86243	GCT		0.398	C7orf60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338923.1	NM_152556		12	77	0	0	0	1	0	12	77					A	112462157	G	A	112462157	3	1	435	1	0	0	0	0	1	0	0	0	2407	971	34	3	361	3	C7orf60	7	112462157	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	37508	112462157	46676506	3769	24694											
PPP1R3A	5506	broad.mit.edu	37	chr7	113519717	113519717	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atcccaaatcttttacttcaAtatttttagctcctccttca	10	18	1	12	0	3	0	2	0	1	0	6	0	6	0	3	0	2	1	3	0	5	8			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:113519717A>G	ENST00000284601.3	-	4	1498	c.1430T>C	c.(1429-1431)aTt>aCt	p.I477T		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	477					glycogen metabolic process (GO:0005977)	integral component of membrane (GO:0016021)				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						TTTTACTTCAATATTTTTAGC	0.393																																						ENST00000284601.3																			0				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						c.(1429-1431)aTt>aCt		protein phosphatase 1, regulatory subunit 3A							53	53	53					7																	113519717		2203	4298	6501	SO:0001583	missense	5506				glycogen metabolic process	integral to membrane		g.chr7:113519717A>G	AF024578	CCDS5759.1	7q31.1	2012-04-17	2011-10-04	2001-07-02	ENSG00000154415	ENSG00000154415	3.1.3.16	"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	9291	protein-coding gene	gene with protein product	"glycogen-associated regulatory subunit of protein phosphatase-1", "protein phosphatase 1 regulatory subunit GM"	600917	"protein phosphatase 1, regulatory (inhibitor) subunit 3A (glycogen and sarcoplasmic reticulum binding subunit, skeletal muscle)", "protein phosphatase 1, regulatory (inhibitor) subunit 3A"	PPP1R3		7926294	Standard	NM_002711		Approved	GM	uc010ljy.1	Q16821	OTTHUMG00000156944	ENST00000284601.3:c.1430T>C	7.37:g.113519717A>G	ENSP00000284601:p.Ile477Thr						p.I477T	NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN			4	1498	-			477					A0AVQ2|A4D0T6|O43476|Q75LN8|Q7KYM8|Q86UI6	Missense_Mutation	SNP	ENST00000284601.3	37	c.1430T>C	CCDS5759.1	.	.	.	.	.	.	.	.	.	.	A	1.997	-0.430279	0.04701	.	.	ENSG00000154415	ENST00000284601;ENST00000449795	T;T	0.35048	2.32;1.33	5.49	-4.64	0.03349	.	0.977301	0.08381	N	0.954547	T	0.22003	0.0530	L	0.34521	1.04	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.23368	-1.0190	10	0.31617	T	0.26	-1.3991	6.2737	0.20969	0.3824:0.2535:0.3641:0.0	.	477	Q16821	PPR3A_HUMAN	T	477;156	ENSP00000284601:I477T;ENSP00000401278:I156T	ENSP00000284601:I477T	I	-	2	0	PPP1R3A	113306953	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.376000	0.07465	-1.027000	0.03325	-0.899000	0.02877	ATT		0.393	PPP1R3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346724.1	NM_002711		33	45	0	0	0	1	0	33	45					G	113519717	A	G	113519717	3	3	435	1	0	0	0	0	1	0	0	0	12371	101	4	4	1942	4	PPP1R3A	7	113519717	Missense_Mutation	SNP	A	TCGA-XK-AAIW-01A-11D-A41K-08	1057560	113519717	45618946	3770	24695											
PPP1R3A	5506	broad.mit.edu	37	chr7	113519788	113519788	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgatctgaagaggggcaaggTatttgcactgtgccattgcc	9	11	13	8	0	1	3	0	2	1	1	1	3	1	3	2	3	3	3	2	3	3	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:113519788T>C	ENST00000284601.3	-	4	1427	c.1359A>G	c.(1357-1359)atA>atG	p.I453M		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	453					glycogen metabolic process (GO:0005977)	integral component of membrane (GO:0016021)				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						AGGGGCAAGGTATTTGCACTG	0.393																																						ENST00000284601.3																			0				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						c.(1357-1359)atA>atG		protein phosphatase 1, regulatory subunit 3A							99	90	93					7																	113519788		2203	4299	6502	SO:0001583	missense	5506				glycogen metabolic process	integral to membrane		g.chr7:113519788T>C	AF024578	CCDS5759.1	7q31.1	2012-04-17	2011-10-04	2001-07-02	ENSG00000154415	ENSG00000154415	3.1.3.16	"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	9291	protein-coding gene	gene with protein product	"glycogen-associated regulatory subunit of protein phosphatase-1", "protein phosphatase 1 regulatory subunit GM"	600917	"protein phosphatase 1, regulatory (inhibitor) subunit 3A (glycogen and sarcoplasmic reticulum binding subunit, skeletal muscle)", "protein phosphatase 1, regulatory (inhibitor) subunit 3A"	PPP1R3		7926294	Standard	NM_002711		Approved	GM	uc010ljy.1	Q16821	OTTHUMG00000156944	ENST00000284601.3:c.1359A>G	7.37:g.113519788T>C	ENSP00000284601:p.Ile453Met						p.I453M	NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN			4	1427	-			453					A0AVQ2|A4D0T6|O43476|Q75LN8|Q7KYM8|Q86UI6	Missense_Mutation	SNP	ENST00000284601.3	37	c.1359A>G	CCDS5759.1	.	.	.	.	.	.	.	.	.	.	T	7.729	0.698828	0.15106	.	.	ENSG00000154415	ENST00000284601;ENST00000449795	T;T	0.35973	2.23;1.28	5.4	1.44	0.22558	.	1.097360	0.06912	N	0.807836	T	0.22589	0.0545	N	0.25144	0.715	0.09310	N	1	B	0.22346	0.068	B	0.15870	0.014	T	0.22941	-1.0202	10	0.38643	T	0.18	-1.837	4.4233	0.11492	0.1399:0.2329:0.0:0.6272	.	453	Q16821	PPR3A_HUMAN	M	453;132	ENSP00000284601:I453M;ENSP00000401278:I132M	ENSP00000284601:I453M	I	-	3	3	PPP1R3A	113307024	0.000000	0.05858	0.001000	0.08648	0.058000	0.15608	0.218000	0.17622	0.898000	0.36418	0.459000	0.35465	ATA		0.393	PPP1R3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346724.1	NM_002711		30	54	0	0	0	1	0	30	54					C	113519788	T	C	113519788	3	2	435	1	0	0	0	0	1	0	0	0	12371	1628	57	4	2013	4	PPP1R3A	7	113519788	Missense_Mutation	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	71	113519788	45618875	3771	24696											
MDFIC	29969	broad.mit.edu	37	chr7	114655765	114655765	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gttgtgtccactgtatcctgGcttgcttgttctgcgaattc	4	17	10	10	1	1	0	0	0	1	0	4	1	3	0	2	1	2	5	2	1	2	6			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:114655765G>T	ENST00000393486.1	+	5	1107	c.517G>T	c.(517-519)Gct>Tct	p.A173S	MDFIC_ENST00000257724.3_Missense_Mutation_p.A282S	NM_001166345.1|NM_199072.4	NP_001159817.1|NP_951038.1			MyoD family inhibitor domain containing											breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)	8						CTGTATCCTGGCTTGCTTGTT	0.453																																						ENST00000393486.1																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)	8						c.(517-519)Gct>Tct		MyoD family inhibitor domain containing							416	401	406					7																	114655765		2203	4300	6503	SO:0001583	missense	29969				activation of JUN kinase activity|interspecies interaction between organisms|negative regulation of protein import into nucleus|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|positive regulation of viral transcription|regulation of Wnt receptor signaling pathway|transcription, DNA-dependent	cytoplasm|nucleolus|nucleus	cyclin binding|Tat protein binding	g.chr7:114655765G>T	AF054589	CCDS34737.1, CCDS55155.1	7q31.1-q31.2	2006-01-11			ENSG00000135272	ENSG00000135272			28870	protein-coding gene	gene with protein product		614511				10671520	Standard	NM_199072		Approved	HIC	uc003vhf.3	Q9P1T7	OTTHUMG00000023647	ENST00000393486.1:c.517G>T	7.37:g.114655765G>T	ENSP00000377126:p.Ala173Ser					MDFIC_ENST00000257724.3_Missense_Mutation_p.A282S	p.A173S	NM_001166345.1|NM_199072.4	NP_001159817.1|NP_951038.1	Q9P1T7	MDFIC_HUMAN			5	1107	+			173			Cys-rich.			Missense_Mutation	SNP	ENST00000393486.1	37	c.517G>T	CCDS55155.1	.	.	.	.	.	.	.	.	.	.	G	26.7	4.762939	0.89932	.	.	ENSG00000135272	ENST00000257724;ENST00000393486;ENST00000498196	.	.	.	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	T	0.75953	0.3920	L	0.54908	1.71	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.67894	-0.5552	9	0.20519	T	0.43	-10.894	20.3931	0.98965	0.0:0.0:1.0:0.0	.	173	Q9P1T7	MDFIC_HUMAN	S	282;173;118	.	ENSP00000257724:A282S	A	+	1	0	MDFIC	114443001	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	9.476000	0.97823	2.824000	0.97209	0.655000	0.94253	GCT		0.453	MDFIC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059968.4	NM_199072		80	135	1	0	2.09077e-21	1	2.32225e-21	80	135					T	114655765	G	T	114655765	3	4	435	1	0	0	0	0	1	0	0	0	9405	1203	42	5	904	5	MDFIC	7	114655765	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	1135977	114655765	44482898	3772	24697											
MET	4233	broad.mit.edu	37	chr7	116395427	116395427	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aggttttcccaaatagtgcaCcccttgaaggagggacaagg	12	8	12	9	0	0	1	0	1	0	0	1	3	1	3	3	4	1	2	3	4	4	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:116395427C>T	ENST00000318493.6	+	6	1907	c.1720C>T	c.(1720-1722)Ccc>Tcc	p.P574S	MET_ENST00000436117.2_Missense_Mutation_p.P574S|MET_ENST00000495962.1_3'UTR|MET_ENST00000397752.3_Missense_Mutation_p.P574S			Q9NWH9	SLTM_HUMAN	MET proto-oncogene, receptor tyrosine kinase	0	Arg/Glu-rich.				apoptotic process (GO:0006915)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3)	233	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)			AAATAGTGCACCCCTTGAAGG	0.343			Mis		"papillary renal, head-neck squamous cell "	papillary renal			Hereditary Papillary Renal Carcinoma (type 1)																													ENST00000397752.3				Dom	yes	Familial Papillary Renal Cancer	7	7q31	4233	Mis	met proto-oncogene (hepatocyte growth factor receptor)			E		papillary renal	"papillary renal, head-neck squamous cell "		0				NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3)	233						c.(1720-1722)Ccc>Tcc		met proto-oncogene							84	78	80					7																	116395427		1799	4077	5876	SO:0001583	missense	0	Hereditary Papillary Renal Carcinoma (type 1)	Familial Cancer Database	HPRC, Hereditary Papillary Renal Cell Cancer	axon guidance|cell proliferation	basal plasma membrane|integral to plasma membrane	ATP binding|hepatocyte growth factor receptor activity|protein binding	g.chr7:116395427C>T	M35073	CCDS43636.1, CCDS47689.1	7q31	2014-09-17	2014-06-26		ENSG00000105976	ENSG00000105976	2.7.10.1		7029	protein-coding gene	gene with protein product	"hepatocyte growth factor receptor"	164860	"met proto-oncogene"			1846706, 1611909	Standard	NM_001127500		Approved	HGFR, RCCP2	uc010lkh.3	P08581	OTTHUMG00000023299	ENST00000318493.6:c.1720C>T	7.37:g.116395427C>T	ENSP00000317272:p.Pro574Ser					MET_ENST00000495962.1_3'UTR|MET_ENST00000318493.6_Missense_Mutation_p.P574S|MET_ENST00000436117.2_Missense_Mutation_p.P574S	p.P574S	NM_000245.2|NM_001127500.1	NP_000236.2|NP_001120972.1	P08581	MET_HUMAN	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)		6	1920	+	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	574			IPT/TIG 1.		A8K5V8|B2RTX3|Q2VPK7|Q52MB3|Q658J7|Q6ZNF2|Q86TK6|Q9H7C3|Q9H8U9	Missense_Mutation	SNP	ENST00000318493.6	37	c.1720C>T	CCDS47689.1	.	.	.	.	.	.	.	.	.	.	C	16.49	3.136667	0.56936	.	.	ENSG00000105976	ENST00000397752;ENST00000318493;ENST00000436117	T;T;T	0.76060	-0.99;-0.99;-0.99	5.93	5.93	0.95920	Cell surface receptor IPT/TIG (2);Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.86748	0.6007	M	0.80982	2.52	0.80722	D	1	D;D;D;D;D;D;D;D	0.76494	0.995;0.999;0.999;0.999;0.999;0.999;0.998;0.995	P;D;D;D;D;D;D;P	0.83275	0.85;0.996;0.979;0.989;0.986;0.989;0.939;0.874	D	0.87565	0.2474	10	0.72032	D	0.01	.	15.9036	0.79403	0.1357:0.8643:0.0:0.0	.	574;574;574;574;546;574;574;574	B5A929;E7EQ94;B5A930;B5A934;B5A936;B5A937;P08581-2;P08581	.;.;.;.;.;.;.;MET_HUMAN	S	574	ENSP00000380860:P574S;ENSP00000317272:P574S;ENSP00000410980:P574S	ENSP00000317272:P574S	P	+	1	0	MET	116182663	1.000000	0.71417	1.000000	0.80357	0.320000	0.28249	3.763000	0.55257	2.826000	0.97356	0.655000	0.94253	CCC		0.343	MET-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059620.3			34	37	0	0	0	1	0	34	37					T	116395427	C	T	116395427	3	4	435	1	0	0	0	0	1	0	0	0	9485	507	18	3	1738	3	MET	7	116395427	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	1739662	116395427	42743236	3773	24698											
WNT2	7472	broad.mit.edu	37	chr7	116955208	116955208	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctttgcatccacaaatgcgcGggcaaatttgatcccatagt	11	11	8	11	2	0	1	0	1	0	0	2	1	2	1	2	1	2	2	2	1	3	3	rs149362965		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:116955208G>A	ENST00000265441.3	-	3	804	c.505C>T	c.(505-507)Cgc>Tgc	p.R169C	AC002465.2_ENST00000436097.1_RNA	NM_003391.2	NP_003382.1	P09544	WNT2_HUMAN	wingless-type MMTV integration site family member 2	169					atrial cardiac muscle tissue morphogenesis (GO:0055009)|canonical Wnt signaling pathway (GO:0060070)|cardiac epithelial to mesenchymal transition (GO:0060317)|cell fate commitment (GO:0045165)|cell-cell signaling (GO:0007267)|cellular response to retinoic acid (GO:0071300)|cellular response to transforming growth factor beta stimulus (GO:0071560)|iris morphogenesis (GO:0061072)|labyrinthine layer blood vessel development (GO:0060716)|lens development in camera-type eye (GO:0002088)|lung development (GO:0030324)|lung induction (GO:0060492)|mammary gland epithelium development (GO:0061180)|neuron differentiation (GO:0030182)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of epithelial cell proliferation involved in lung morphogenesis (GO:0060501)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	cytokine activity (GO:0005125)|frizzled binding (GO:0005109)|receptor agonist activity (GO:0048018)	p.R169C(1)		breast(2)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|ovary(3)|prostate(1)|skin(2)	31	all_epithelial(6;2.24e-06)|Lung NSC(10;0.000936)|all_lung(10;0.00109)		STAD - Stomach adenocarcinoma(10;0.000512)	LUSC - Lung squamous cell carcinoma(290;0.133)		ACAAATGCGCGGGCAAATTTG	0.478																																						ENST00000265441.3																			1	Substitution - Missense(1)	p.R169C(1)	skin(1)	breast(2)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|ovary(3)|prostate(1)|skin(2)	31						c.(505-507)Cgc>Tgc		wingless-type MMTV integration site family member 2							144	131	135					7																	116955208		2203	4300	6503	SO:0001583	missense	7472				atrial cardiac muscle tissue morphogenesis|canonical Wnt receptor signaling pathway|cardiac epithelial to mesenchymal transition|cellular response to retinoic acid|cellular response to transforming growth factor beta stimulus|dorsal/ventral axis specification|iris morphogenesis|labyrinthine layer blood vessel development|lens development in camera-type eye|lung induction|mammary gland epithelium development|neuron differentiation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of fibroblast proliferation|positive regulation of mesenchymal cell proliferation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|Wnt receptor signaling pathway, calcium modulating pathway	cytoplasm|extracellular space|proteinaceous extracellular matrix	cytokine activity|frizzled binding|frizzled-2 binding|signal transducer activity	g.chr7:116955208G>A	X07876	CCDS5771.1	7q31	2013-02-28			ENSG00000105989	ENSG00000105989		"Wingless-type MMTV integration sites", "Endogenous ligands"	12780	protein-coding gene	gene with protein product	"secreted growth factor"	147870		INT1L1		2971536	Standard	NM_003391		Approved	IRP	uc003viz.3	P09544	OTTHUMG00000023428	ENST00000265441.3:c.505C>T	7.37:g.116955208G>A	ENSP00000265441:p.Arg169Cys					AC002465.2_ENST00000436097.1_RNA	p.R169C	NM_003391.2	NP_003382.1	P09544	WNT2_HUMAN	STAD - Stomach adenocarcinoma(10;0.000512)	LUSC - Lung squamous cell carcinoma(290;0.133)	3	804	-	all_epithelial(6;2.24e-06)|Lung NSC(10;0.000936)|all_lung(10;0.00109)		169					A4D0V1|Q75N05|Q9UDP9	Missense_Mutation	SNP	ENST00000265441.3	37	c.505C>T	CCDS5771.1	.	.	.	.	.	.	.	.	.	.	G	15.73	2.918456	0.52546	.	.	ENSG00000105989	ENST00000265441	T	0.79033	-1.23	5.65	4.77	0.60923	.	0.059928	0.64402	D	0.000002	D	0.89928	0.6857	H	0.95470	3.675	0.53005	D	0.999968	D;D	0.76494	0.999;0.999	D;D	0.67725	0.953;0.953	D	0.91402	0.5144	10	0.87932	D	0	.	9.7806	0.40645	0.0:0.118:0.5005:0.3815	.	169;169	A4D0V1;P09544	.;WNT2_HUMAN	C	169	ENSP00000265441:R169C	ENSP00000265441:R169C	R	-	1	0	WNT2	116742444	1.000000	0.71417	0.998000	0.56505	0.923000	0.55619	1.711000	0.37930	1.510000	0.48803	0.655000	0.94253	CGC		0.478	WNT2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059749.3	NM_003391		35	53	0	0	0	1	0	35	53					A	116955208	G	A	116955208	3	1	435	1	0	0	0	0	1	0	0	0	17383	1116	39	2	589	2	WNT2	7	116955208	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	559781	116955208	42183455	3774	24699											
CFTR	1080	broad.mit.edu	37	chr7	117182148	117182148	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagtgatggagaatgtaacaGccttctgggaggaggtcaga	12	9	15	5	0	2	3	1	1	1	2	2	6	2	5	1	4	2	1	1	4	3	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:117182148G>A	ENST00000003084.6	+	9	1327	c.1195G>A	c.(1195-1197)Gcc>Acc	p.A399T	CFTR_ENST00000454343.1_Missense_Mutation_p.A399T	NM_000492.3	NP_000483.3	P13569	CFTR_HUMAN	cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)	399					cellular response to cAMP (GO:0071320)|cellular response to hormone stimulus (GO:0032870)|chloride transmembrane transport (GO:1902476)|cholesterol biosynthetic process (GO:0006695)|cholesterol transport (GO:0030301)|intracellular pH elevation (GO:0051454)|iodide transport (GO:0015705)|lung development (GO:0030324)|membrane hyperpolarization (GO:0060081)|positive regulation of vasodilation (GO:0045909)|positive regulation of voltage-gated chloride channel activity (GO:1902943)|respiratory gaseous exchange (GO:0007585)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to peptide hormone (GO:0043434)|sperm capacitation (GO:0048240)|transepithelial chloride transport (GO:0030321)|transmembrane transport (GO:0055085)|transport (GO:0006810)|vasodilation (GO:0042311)|water transport (GO:0006833)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|chloride channel complex (GO:0034707)|cytoplasmic vesicle membrane (GO:0030659)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|microvillus (GO:0005902)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	ATP binding (GO:0005524)|ATP-binding and phosphorylation-dependent chloride channel activity (GO:0005224)|bicarbonate transmembrane transporter activity (GO:0015106)|channel-conductance-controlling ATPase activity (GO:0005260)|chloride channel activity (GO:0005254)|chloride channel inhibitor activity (GO:0019869)|chloride transmembrane transporter activity (GO:0015108)|enzyme binding (GO:0019899)|PDZ domain binding (GO:0030165)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Crofelemer(DB04941)|Glyburide(DB01016)|Ibuprofen(DB01050)|Ivacaftor(DB08820)	GAATGTAACAGCCTTCTGGGA	0.318									Cystic Fibrosis																													ENST00000003084.6																			0				NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69						c.(1195-1197)Gcc>Acc		cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)	Bumetanide(DB00887)|Glibenclamide(DB01016)						44	44	44					7																	117182148		2202	4296	6498	SO:0001583	missense	1080	Cystic Fibrosis	Familial Cancer Database	CF	respiratory gaseous exchange	apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane	ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding|PDZ domain binding	g.chr7:117182148G>A	M28668	CCDS5773.1	7q31-q32	2014-09-17	2006-09-18		ENSG00000001626	ENSG00000001626		"Ion channels / Chloride channels : Cystic fibrosis transmembrane conductance regulators", "ATP binding cassette transporters / subfamily C"	1884	protein-coding gene	gene with protein product	"ATP-binding cassette sub-family C, member 7"	602421	"cystic fibrosis transmembrane conductance regulator, ATP-binding cassette (sub-family C, member 7)"	CF, ABCC7		2772657	Standard	XM_006715842		Approved	MRP7, ABC35, TNR-CFTR, dJ760C5.1, CFTR/MRP	uc003vjd.3	P13569	OTTHUMG00000023076	ENST00000003084.6:c.1195G>A	7.37:g.117182148G>A	ENSP00000003084:p.Ala399Thr					CFTR_ENST00000454343.1_Missense_Mutation_p.A399T	p.A399T	NM_000492.3	NP_000483.3	P13569	CFTR_HUMAN	STAD - Stomach adenocarcinoma(10;0.000534)		9	1327	+	Lung NSC(10;0.00148)|all_lung(10;0.00171)		399					Q20BG8|Q20BH2|Q2I0A1|Q2I102	Missense_Mutation	SNP	ENST00000003084.6	37	c.1195G>A	CCDS5773.1	.	.	.	.	.	.	.	.	.	.	G	33	5.227930	0.95173	.	.	ENSG00000001626	ENST00000003084;ENST00000454343;ENST00000426809	D;D;D	0.92595	-3.01;-2.84;-3.07	5.62	5.62	0.85841	ABC transporter, transmembrane domain, type 1 (1);	0.000000	0.85682	D	0.000000	D	0.95652	0.8586	M	0.87381	2.88	0.52501	D	0.999951	D	0.57571	0.98	P	0.54856	0.762	D	0.94746	0.7923	10	0.40728	T	0.16	-13.5276	20.0205	0.97499	0.0:0.0:1.0:0.0	.	399	P13569	CFTR_HUMAN	T	399;399;369	ENSP00000003084:A399T;ENSP00000403677:A399T;ENSP00000389119:A369T	ENSP00000003084:A399T	A	+	1	0	CFTR	116969384	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.820000	0.92003	2.801000	0.96364	0.650000	0.86243	GCC		0.318	CFTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059397.3	NM_000492		20	27	0	0	0	1	0	20	27					A	117182148	G	A	117182148	3	1	435	1	0	0	0	0	1	0	0	0	3294	971	34	3	1229	3	CFTR	7	117182148	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	226940	117182148	41956515	3775	24700											
CFTR	1080	broad.mit.edu	37	chr7	117232500	117232500	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtgatcagcactggccccaCgcttcaggcacgaaggaggc	9	5	13	14	3	2	1	2	1	0	0	2	3	2	2	2	4	1	3	2	4	1	1	rs397508359		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:117232500C>T	ENST00000003084.6	+	14	2411	c.2279C>T	c.(2278-2280)aCg>aTg	p.T760M	CFTR_ENST00000454343.1_Missense_Mutation_p.T699M	NM_000492.3	NP_000483.3	P13569	CFTR_HUMAN	cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)	760					cellular response to cAMP (GO:0071320)|cellular response to hormone stimulus (GO:0032870)|chloride transmembrane transport (GO:1902476)|cholesterol biosynthetic process (GO:0006695)|cholesterol transport (GO:0030301)|intracellular pH elevation (GO:0051454)|iodide transport (GO:0015705)|lung development (GO:0030324)|membrane hyperpolarization (GO:0060081)|positive regulation of vasodilation (GO:0045909)|positive regulation of voltage-gated chloride channel activity (GO:1902943)|respiratory gaseous exchange (GO:0007585)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to peptide hormone (GO:0043434)|sperm capacitation (GO:0048240)|transepithelial chloride transport (GO:0030321)|transmembrane transport (GO:0055085)|transport (GO:0006810)|vasodilation (GO:0042311)|water transport (GO:0006833)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|chloride channel complex (GO:0034707)|cytoplasmic vesicle membrane (GO:0030659)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|microvillus (GO:0005902)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	ATP binding (GO:0005524)|ATP-binding and phosphorylation-dependent chloride channel activity (GO:0005224)|bicarbonate transmembrane transporter activity (GO:0015106)|channel-conductance-controlling ATPase activity (GO:0005260)|chloride channel activity (GO:0005254)|chloride channel inhibitor activity (GO:0019869)|chloride transmembrane transporter activity (GO:0015108)|enzyme binding (GO:0019899)|PDZ domain binding (GO:0030165)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Crofelemer(DB04941)|Glyburide(DB01016)|Ibuprofen(DB01050)|Ivacaftor(DB08820)	ACTGGCCCCACGCTTCAGGCA	0.517									Cystic Fibrosis																													ENST00000003084.6																			0				NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69	GRCh37	CM993863	CFTR	M		c.(2278-2280)aCg>aTg		cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)	Bumetanide(DB00887)|Glibenclamide(DB01016)						82	60	68					7																	117232500		2203	4300	6503	SO:0001583	missense	1080	Cystic Fibrosis	Familial Cancer Database	CF	respiratory gaseous exchange	apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane	ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding|PDZ domain binding	g.chr7:117232500C>T	M28668	CCDS5773.1	7q31-q32	2014-09-17	2006-09-18		ENSG00000001626	ENSG00000001626		"Ion channels / Chloride channels : Cystic fibrosis transmembrane conductance regulators", "ATP binding cassette transporters / subfamily C"	1884	protein-coding gene	gene with protein product	"ATP-binding cassette sub-family C, member 7"	602421	"cystic fibrosis transmembrane conductance regulator, ATP-binding cassette (sub-family C, member 7)"	CF, ABCC7		2772657	Standard	XM_006715842		Approved	MRP7, ABC35, TNR-CFTR, dJ760C5.1, CFTR/MRP	uc003vjd.3	P13569	OTTHUMG00000023076	ENST00000003084.6:c.2279C>T	7.37:g.117232500C>T	ENSP00000003084:p.Thr760Met					CFTR_ENST00000454343.1_Missense_Mutation_p.T699M	p.T760M	NM_000492.3	NP_000483.3	P13569	CFTR_HUMAN	STAD - Stomach adenocarcinoma(10;0.000534)		14	2411	+	Lung NSC(10;0.00148)|all_lung(10;0.00171)		760					Q20BG8|Q20BH2|Q2I0A1|Q2I102	Missense_Mutation	SNP	ENST00000003084.6	37	c.2279C>T	CCDS5773.1	.	.	.	.	.	.	.	.	.	.	C	2.042	-0.419846	0.04734	.	.	ENSG00000001626	ENST00000003084;ENST00000454343;ENST00000426809	D;D;D	0.95482	-3.72;-3.72;-3.72	5.35	1.47	0.22746	.	0.602886	0.19562	N	0.111301	D	0.89942	0.6861	L	0.35593	1.075	0.19575	N	0.999965	B	0.15719	0.014	B	0.13407	0.009	T	0.76729	-0.2852	10	0.18276	T	0.48	-2.6773	9.9512	0.41640	0.0:0.6339:0.0:0.3661	.	760	P13569	CFTR_HUMAN	M	760;699;730	ENSP00000003084:T760M;ENSP00000403677:T699M;ENSP00000389119:T730M	ENSP00000003084:T760M	T	+	2	0	CFTR	117019736	0.000000	0.05858	0.160000	0.22671	0.019000	0.09904	0.410000	0.21098	0.320000	0.23234	-0.222000	0.12452	ACG		0.517	CFTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059397.3	NM_000492		9	8	0	0	0	1	0	9	8					T	117232500	C	T	117232500	3	4	435	1	0	0	0	0	1	0	0	0	3294	536	19	1	2333	1	CFTR	7	117232500	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	50352	117232500	41906163	3776	24701											
CTTNBP2	83992	broad.mit.edu	37	chr7	117368258	117368258	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagttaagctgacgccagaCggacagagcccagtcgacaa	13	4	13	11	3	0	3	0	1	0	2	1	6	0	5	2	2	2	2	2	2	2	1	rs376821321		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:117368258C>T	ENST00000160373.3	-	17	4031	c.3940G>A	c.(3940-3942)Gtc>Atc	p.V1314I		NM_033427.2	NP_219499.1	Q8WZ74	CTTB2_HUMAN	cortactin binding protein 2	1314					brain development (GO:0007420)	cell projection (GO:0042995)|synaptic vesicle (GO:0008021)				breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83	Lung NSC(10;0.0018)|all_lung(10;0.002)			LUSC - Lung squamous cell carcinoma(290;0.133)		TGACGCCAGACGGACAGAGCC	0.572													C|||	1	0.000199681	0	0	5008	,	,		16438	0		0	False		,,,				2504	0.001					ENST00000160373.3																			0				breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83						c.(3940-3942)Gtc>Atc		cortactin binding protein 2		C	ILE/VAL	0,4406		0,0,2203	105	113	111		3940	5.4	1	7		111	1,8599	1.2+/-3.3	0,1,4299	no	missense	CTTNBP2	NM_033427.2	29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	1314/1664	117368258	1,13005	2203	4300	6503	SO:0001583	missense	83992							g.chr7:117368258C>T		CCDS5774.1	7q31	2013-01-10	2004-06-08	2004-06-09	ENSG00000077063	ENSG00000077063		"Ankyrin repeat domain containing"	15679	protein-coding gene	gene with protein product		609772	"cortactin binding protein 2"	CORTBP2, C7orf8		11707066	Standard	XM_005250635		Approved	KIAA1758, Orf4	uc003vjf.3	Q8WZ74	OTTHUMG00000022880	ENST00000160373.3:c.3940G>A	7.37:g.117368258C>T	ENSP00000160373:p.Val1314Ile						p.V1314I	NM_033427.2	NP_219499.1	Q8WZ74	CTTB2_HUMAN		LUSC - Lung squamous cell carcinoma(290;0.133)	17	4031	-	Lung NSC(10;0.0018)|all_lung(10;0.002)		1314					O43389|Q7LG11|Q9C0A5	Missense_Mutation	SNP	ENST00000160373.3	37	c.3940G>A	CCDS5774.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	31|31	5.093185|5.093185	0.94149|0.94149	0.0|0.0	1.16E-4|1.16E-4	ENSG00000077063|ENSG00000077063	ENST00000446636|ENST00000160373	.|D	.|0.91011	.|-2.77	5.43|5.43	5.43|5.43	0.79202|0.79202	.|.	.|0.110120	.|0.64402	.|D	.|0.000009	D|D	0.95950|0.95950	0.8681|0.8681	M|M	0.86502|0.86502	2.82|2.82	0.58432|0.58432	D|D	0.999991|0.999991	.|D	.|0.89917	.|1.0	.|D	.|0.77557	.|0.99	D|D	0.95058|0.95058	0.8193|0.8193	5|10	.|0.40728	.|T	.|0.16	-0.4105|-0.4105	19.5983|19.5983	0.95549|0.95549	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|1314	.|Q8WZ74	.|CTTB2_HUMAN	H|I	801|1314	.|ENSP00000160373:V1314I	.|ENSP00000160373:V1314I	R|V	-|-	2|1	0|0	CTTNBP2|CTTNBP2	117155494|117155494	1.000000|1.000000	0.71417|0.71417	0.996000|0.996000	0.52242|0.52242	0.920000|0.920000	0.55202|0.55202	5.334000|5.334000	0.65923|0.65923	2.704000|2.704000	0.92352|0.92352	0.650000|0.650000	0.86243|0.86243	CGT|GTC		0.572	CTTNBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059201.4	NM_033427		13	60	0	0	0	1	0	13	60					T	117368258	C	T	117368258	3	4	435	1	0	0	0	0	1	0	0	0	4045	536	19	1	1079	1	CTTNBP2	7	117368258	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	135758	117368258	41770405	3777	24702											
PTPRZ1	5803	broad.mit.edu	37	chr7	121651338	121651338	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acggtcaacgtggtatactcGcagacaacccaaccggtata	13	7	9	12	4	1	1	1	0	0	1	2	1	1	1	2	3	4	3	2	3	7	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:121651338G>A	ENST00000393386.2	+	12	2649	c.2238G>A	c.(2236-2238)tcG>tcA	p.S746S	PTPRZ1_ENST00000483028.1_3'UTR|PTPRZ1_ENST00000449182.1_Silent_p.S746S	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	746					axonogenesis (GO:0007409)|central nervous system development (GO:0007417)|hematopoietic progenitor cell differentiation (GO:0002244)|learning or memory (GO:0007611)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of oligodendrocyte progenitor proliferation (GO:0070445)	integral component of plasma membrane (GO:0005887)|perineuronal net (GO:0072534)|proteinaceous extracellular matrix (GO:0005578)	protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						TGGTATACTCGCAGACAACCC	0.473																																						ENST00000393386.2																			0				NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						c.(2236-2238)tcG>tcA		protein tyrosine phosphatase, receptor-type, Z polypeptide 1							159	144	149					7																	121651338		2203	4300	6503	SO:0001819	synonymous_variant	5803				central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity	g.chr7:121651338G>A	M93426	CCDS34740.1, CCDS56505.1	7q31.3	2013-02-11			ENSG00000106278	ENSG00000106278		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Fibronectin type III domain containing"	9685	protein-coding gene	gene with protein product		176891		PTPZ, PTPRZ		7736789, 8387522	Standard	NM_001206838		Approved	PTP18, RPTPB, phosphacan	uc003vjy.3	P23471	OTTHUMG00000157057	ENST00000393386.2:c.2238G>A	7.37:g.121651338G>A						PTPRZ1_ENST00000483028.1_3'UTR|PTPRZ1_ENST00000449182.1_Silent_p.S746S	p.S746S	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN			12	2649	+			746					A4D0W5|C9JFM0|O76043|Q9UDR6	Silent	SNP	ENST00000393386.2	37	c.2238G>A	CCDS34740.1																																																																																				0.473	PTPRZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347288.1	NM_002851		4	58	0	0	0	1	0	4	58					A	121651338	G	A	121651338	2	1	435	1	0	0	0	0	0	0	0	1	12814	1074	38	1		1	PTPRZ1	7	121651338	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	4283080	121651338	37487325	3778	24703											
PTPRZ1	5803	broad.mit.edu	37	chr7	121652880	121652880	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tctgcttcacttcaaggtttGaccatttcctatgcaagtga	9	15	7	10	0	3	2	2	2	1	0	4	2	4	2	2	1	2	3	2	1	3	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:121652880G>A	ENST00000393386.2	+	12	4191	c.3780G>A	c.(3778-3780)ttG>ttA	p.L1260L	PTPRZ1_ENST00000483028.1_3'UTR|PTPRZ1_ENST00000449182.1_Intron	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	1260					axonogenesis (GO:0007409)|central nervous system development (GO:0007417)|hematopoietic progenitor cell differentiation (GO:0002244)|learning or memory (GO:0007611)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of oligodendrocyte progenitor proliferation (GO:0070445)	integral component of plasma membrane (GO:0005887)|perineuronal net (GO:0072534)|proteinaceous extracellular matrix (GO:0005578)	protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						TTCAAGGTTTGACCATTTCCT	0.393																																						ENST00000393386.2																			0				NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						c.(3778-3780)ttG>ttA		protein tyrosine phosphatase, receptor-type, Z polypeptide 1							111	111	111					7																	121652880		2203	4300	6503	SO:0001819	synonymous_variant	5803				central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity	g.chr7:121652880G>A	M93426	CCDS34740.1, CCDS56505.1	7q31.3	2013-02-11			ENSG00000106278	ENSG00000106278		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Fibronectin type III domain containing"	9685	protein-coding gene	gene with protein product		176891		PTPZ, PTPRZ		7736789, 8387522	Standard	NM_001206838		Approved	PTP18, RPTPB, phosphacan	uc003vjy.3	P23471	OTTHUMG00000157057	ENST00000393386.2:c.3780G>A	7.37:g.121652880G>A						PTPRZ1_ENST00000483028.1_3'UTR|PTPRZ1_ENST00000449182.1_Intron	p.L1260L	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN			12	4191	+			1260					A4D0W5|C9JFM0|O76043|Q9UDR6	Silent	SNP	ENST00000393386.2	37	c.3780G>A	CCDS34740.1																																																																																				0.393	PTPRZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347288.1	NM_002851		30	60	0	0	0	1	0	30	60					A	121652880	G	A	121652880	2	1	435	1	0	0	0	0	0	0	0	1	12814	1281	45	3		3	PTPRZ1	7	121652880	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	1542	121652880	37485783	3779	24704											
AASS	10157	broad.mit.edu	37	chr7	121773658	121773658	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttgatgtgcttgggagctagCggggcccttctctcccaggc	4	11	14	12	1	1	1	0	1	1	0	3	2	2	2	2	4	3	2	2	4	1	4	rs150573609	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:121773658C>T	ENST00000393376.1	-	1	218	c.123G>A	c.(121-123)ccG>ccA	p.P41P	AASS_ENST00000417368.2_Silent_p.P41P|AASS_ENST00000473553.1_Intron			Q9UDR5	AASS_HUMAN	aminoadipate-semialdehyde synthase	41	Lysine-ketoglutarate reductase.				cellular nitrogen compound metabolic process (GO:0034641)|L-lysine catabolic process to acetyl-CoA via saccharopine (GO:0033512)|lysine catabolic process (GO:0006554)|protein tetramerization (GO:0051262)|small molecule metabolic process (GO:0044281)	intracellular membrane-bounded organelle (GO:0043231)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity (GO:0047131)|saccharopine dehydrogenase (NADP+, L-lysine-forming) activity (GO:0047130)			autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(6)|large_intestine(12)|lung(27)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	54						TGGGAGCTAGCGGGGCCCTTC	0.567													A|||	2	0.000399361	0	0	5008	,	,		16377	0		0	False		,,,				2504	0.002					ENST00000393376.1																			0				autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(6)|large_intestine(12)|lung(27)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	54						c.(121-123)ccG>ccA		aminoadipate-semialdehyde synthase	L-Glutamic Acid(DB00142)|NADH(DB00157)	A		0,4406		0,0,2203	110	97	101		123	-10.6	0	7	dbSNP_134	101	2,8598		0,2,4298	no	coding-synonymous	AASS	NM_005763.3		0,2,6501	TT,TC,CC		0.0233,0.0,0.0154		41/927	121773658	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	10157				protein tetramerization	mitochondrial matrix	binding|saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity|saccharopine dehydrogenase (NADP+, L-lysine-forming) activity	g.chr7:121773658C>T	AF229180	CCDS5783.1	7q31.3	2010-12-14			ENSG00000008311	ENSG00000008311			17366	protein-coding gene	gene with protein product		605113				10775527	Standard	NM_005763		Approved	LORSDH, LKRSDH	uc003vkb.3	Q9UDR5	OTTHUMG00000157058	ENST00000393376.1:c.123G>A	7.37:g.121773658C>T						AASS_ENST00000417368.2_Silent_p.P41P|AASS_ENST00000473553.1_Intron	p.P41P			Q9UDR5	AASS_HUMAN			1	218	-			41			Lysine-ketoglutarate reductase.		O95462	Silent	SNP	ENST00000393376.1	37	c.123G>A	CCDS5783.1																																																																																				0.567	AASS-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347300.1	NM_005763		15	17	0	0	0	1	0	15	17					T	121773658	C	T	121773658	2	4	435	1	0	0	0	0	0	0	0	1	24	755	27	1		1	AASS	7	121773658	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	120778	121773658	37365005	3780	24705											
FEZF1	389549	broad.mit.edu	37	chr7	121943235	121943235	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agacagatgaacacacctgcGtgtgaatgatcttgtgcctg	11	10	11	9	1	1	5	0	3	1	2	1	5	1	5	2	0	3	0	2	0	2	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:121943235G>A	ENST00000442488.2	-	2	999	c.932C>T	c.(931-933)aCg>aTg	p.T311M	FEZF1_ENST00000331178.4_Missense_Mutation_p.T307M|FEZF1_ENST00000427185.2_Missense_Mutation_p.T261M|FEZF1-AS1_ENST00000428449.1_RNA|FEZF1-AS1_ENST00000437317.1_RNA	NM_001024613.2|NM_001160264.1	NP_001019784.2|NP_001153736.1	A0PJY2	FEZF1_HUMAN	FEZ family zinc finger 1	311					axon guidance (GO:0007411)|forebrain anterior/posterior pattern specification (GO:0021797)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|olfactory bulb development (GO:0021772)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)			breast(1)|large_intestine(3)|lung(18)|ovary(2)|prostate(1)	25						ACACACCTGCGTGTGAATGAT	0.463																																						ENST00000442488.2																			0				breast(1)|large_intestine(3)|lung(18)|ovary(2)|prostate(1)	25						c.(931-933)aCg>aTg		FEZ family zinc finger 1							143	136	138					7																	121943235		2203	4300	6503	SO:0001583	missense	389549				cell differentiation|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:121943235G>A	AY726588	CCDS34741.1, CCDS34741.2, CCDS55157.1	7q31.32	2013-01-08	2006-08-15	2006-08-15	ENSG00000128610	ENSG00000128610		"Zinc fingers, C2H2-type"	22788	protein-coding gene	gene with protein product		613301	"zinc finger protein 312B"	ZNF312B			Standard	NM_001024613		Approved		uc003vkd.3	A0PJY2	OTTHUMG00000157091	ENST00000442488.2:c.932C>T	7.37:g.121943235G>A	ENSP00000411145:p.Thr311Met					FEZF1_ENST00000427185.2_Missense_Mutation_p.T261M|FEZF1_ENST00000331178.4_Missense_Mutation_p.T307M	p.T311M	NM_001024613.2|NM_001160264.1	NP_001019784.2|NP_001153736.1	A0PJY2	FEZF1_HUMAN			2	999	-			311					A0PJY3|A4D0W3|B4DUP9|B7ZM98	Missense_Mutation	SNP	ENST00000442488.2	37	c.932C>T	CCDS34741.2	.	.	.	.	.	.	.	.	.	.	G	29.0	4.965809	0.92855	.	.	ENSG00000128610	ENST00000442488;ENST00000331178;ENST00000427185	T;T;T	0.26373	1.74;1.74;1.74	5.23	5.23	0.72850	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.54191	0.1843	M	0.76574	2.34	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.57774	-0.7753	10	0.87932	D	0	-18.979	19.2154	0.93776	0.0:0.0:1.0:0.0	.	311;261	A0PJY2;A0PJY2-2	FEZF1_HUMAN;.	M	311;307;261	ENSP00000411145:T311M;ENSP00000332777:T307M;ENSP00000392727:T261M	ENSP00000332777:T307M	T	-	2	0	FEZF1	121730471	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.758000	0.98927	2.602000	0.87976	0.650000	0.86243	ACG		0.463	FEZF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347410.1	NM_001024613		32	44	0	0	0	1	0	32	44					A	121943235	G	A	121943235	3	1	435	1	0	0	0	0	1	0	0	0	5825	1145	40	1	507	1	FEZF1	7	121943235	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	169577	121943235	37195428	3781	24706											
RNF133	168433	broad.mit.edu	37	chr7	122338099	122338099	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acatttgcaaatggggcatgTcccatggggtaaaatccagg	12	9	12	8	0	0	0	0	0	0	0	2	0	2	0	2	5	1	3	2	5	3	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:122338099T>C	ENST00000340112.2	-	1	1111	c.874A>G	c.(874-876)Aca>Gca	p.T292A	CADPS2_ENST00000412584.2_Intron|CADPS2_ENST00000334010.7_Intron|CADPS2_ENST00000313070.7_Intron|CADPS2_ENST00000449022.2_Intron	NM_139175.1	NP_631914.1	Q8WVZ7	RN133_HUMAN	ring finger protein 133	292					protein autoubiquitination (GO:0051865)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	21						ATGGGGCATGTCCCATGGGGT	0.373																																					Colon(198;1778 2057 7449 19869 45985)	ENST00000340112.2																			0				NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	21						c.(874-876)Aca>Gca		ring finger protein 133							81	81	81					7																	122338099		2203	4299	6502	SO:0001583	missense	168433					endoplasmic reticulum membrane|integral to membrane	ligase activity|zinc ion binding	g.chr7:122338099T>C	AF447589	CCDS5784.1	7q31.33	2013-01-09			ENSG00000188050	ENSG00000188050		"RING-type (C3HC4) zinc fingers"	21154	protein-coding gene	gene with protein product							Standard	NM_139175		Approved		uc003vkj.1	Q8WVZ7	OTTHUMG00000157092	ENST00000340112.2:c.874A>G	7.37:g.122338099T>C	ENSP00000344489:p.Thr292Ala					CADPS2_ENST00000334010.7_Intron|CADPS2_ENST00000313070.7_Intron|CADPS2_ENST00000412584.2_Intron|CADPS2_ENST00000449022.2_Intron	p.T292A	NM_139175.1	NP_631914.1	Q8WVZ7	RN133_HUMAN			1	1111	-			292					A4D0W2|Q8N7G7	Missense_Mutation	SNP	ENST00000340112.2	37	c.874A>G	CCDS5784.1	.	.	.	.	.	.	.	.	.	.	T	19.62	3.860952	0.71949	.	.	ENSG00000188050	ENST00000340112	T	0.45668	0.89	5.53	5.53	0.82687	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);Zinc finger, RING-H2-type (1);	0.000000	0.64402	U	0.000001	T	0.57710	0.2072	L	0.48935	1.535	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.60286	-0.7293	10	0.72032	D	0.01	.	13.8971	0.63778	0.0:0.0:0.0:1.0	.	292	Q8WVZ7	RN133_HUMAN	A	292	ENSP00000344489:T292A	ENSP00000344489:T292A	T	-	1	0	RNF133	122125335	1.000000	0.71417	1.000000	0.80357	0.852000	0.48524	6.653000	0.74382	2.099000	0.63709	0.402000	0.26972	ACA		0.373	RNF133-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347413.1	NM_139175		34	45	0	0	0	1	0	34	45					C	122338099	T	C	122338099	3	2	435	1	0	0	0	0	1	0	0	0	13439	1667	58	4	260	4	RNF133	7	122338099	Missense_Mutation	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	394864	122338099	36800564	3782	24707											
SLC13A1	6561	broad.mit.edu	37	chr7	122755608	122755608	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttactcatagcaggagcccaCgaagggtaagtgtagaggtc	12	8	13	8	1	1	1	1	0	0	1	2	3	1	2	1	3	3	3	1	3	5	4	rs150844958		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:122755608C>T	ENST00000194130.2	-	15	1791	c.1752G>A	c.(1750-1752)tcG>tcA	p.S584S	SLC13A1_ENST00000539873.1_3'UTR	NM_022444.3	NP_071889.2	Q9BZW2	S13A1_HUMAN	solute carrier family 13 (sodium/sulfate symporter), member 1	584					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium:sulfate symporter activity (GO:0015382)	p.S584S(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	45					Succinic acid(DB00139)	CAGGAGCCCACGAAGGGTAAG	0.403																																						ENST00000194130.2																			1	Substitution - coding silent(1)	p.S584S(1)	lung(1)	breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	45						c.(1750-1752)tcG>tcA		solute carrier family 13 (sodium/sulfate symporter), member 1	Succinic acid(DB00139)	C		1,4405	2.1+/-5.4	0,1,2202	174	137	149		1752	-4	1	7	dbSNP_134	149	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	SLC13A1	NM_022444.3		0,3,6500	TT,TC,CC		0.0233,0.0227,0.0231		584/596	122755608	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	6561					integral to membrane|plasma membrane	sodium:sulfate symporter activity	g.chr7:122755608C>T		CCDS5786.1	7q31.32	2013-07-18	2013-07-18		ENSG00000081800	ENSG00000081800		"Solute carriers"	10916	protein-coding gene	gene with protein product		606193	"solute carrier family 13 (sodium/sulphate symporters), member 1"			11161786	Standard	NM_022444		Approved	NaSi-1, NAS1	uc003vkm.3	Q9BZW2	OTTHUMG00000157087	ENST00000194130.2:c.1752G>A	7.37:g.122755608C>T						SLC13A1_ENST00000539873.1_3'UTR	p.S584S	NM_022444.3	NP_071889.2	Q9BZW2	S13A1_HUMAN			15	1791	-			584					Q9H5Z0	Silent	SNP	ENST00000194130.2	37	c.1752G>A	CCDS5786.1																																																																																				0.403	SLC13A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347404.1	NM_022444		18	26	0	0	0	1	0	18	26					T	122755608	C	T	122755608	2	4	435	1	0	0	0	0	0	0	0	1	14391	523	19	1		1	SLC13A1	7	122755608	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	417509	122755608	36383055	3783	24708											
NDUFA5	4698	broad.mit.edu	37	chr7	123190561	123190561	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcttctcatttgtaatctgtTctgtatactttctatatgct	7	21	5	8	0	4	0	1	0	4	0	5	0	4	0	0	0	2	5	0	0	5	9			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:123190561T>G	ENST00000355749.2	-	3	605	c.146A>C	c.(145-147)gAa>gCa	p.E49A	NDUFA5_ENST00000471770.1_Missense_Mutation_p.E49A|NDUFA5_ENST00000467117.1_5'UTR	NM_001282419.1|NM_005000.2	NP_001269348.1|NP_004991.1	Q16718	NDUA5_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 5	49					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)			large_intestine(1)|urinary_tract(1)	2						TGTAATCTGTTCTGTATACTT	0.333																																						ENST00000471770.1																			0				large_intestine(1)|urinary_tract(1)	2						c.(145-147)gAa>gCa		NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 5	NADH(DB00157)						109	117	114					7																	123190561		2203	4299	6502	SO:0001583	missense	4698				mitochondrial electron transport, NADH to ubiquinone|transport	mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity	g.chr7:123190561T>G		CCDS5788.1, CCDS64760.1, CCDS75655.1, CCDS75656.1	7q31.33	2013-06-19	2013-06-19		ENSG00000128609	ENSG00000128609		"Mitochondrial respiratory chain complex / Complex I"	7688	protein-coding gene	gene with protein product	"complex I 13kDa subunit B", "ubiquinone reductase", "type I dehydrogenase", "NADH-ubiquinone oxidoreductase 13 kDa-B subunit"	601677	"NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 5 (13kD, B13)", "NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 5, 13kDa"			9763677, 9021153	Standard	XM_005250371		Approved	B13, NUFM, CI-13KD-B, UQOR13, CI-13kB	uc003vks.3	Q16718	OTTHUMG00000157348	ENST00000355749.2:c.146A>C	7.37:g.123190561T>G	ENSP00000347988:p.Glu49Ala					NDUFA5_ENST00000355749.2_Missense_Mutation_p.E49A|NDUFA5_ENST00000467117.1_5'UTR	p.E49A			Q16718	NDUA5_HUMAN			3	280	-			49					B2RD98|Q5H9R2|Q6IRX7	Missense_Mutation	SNP	ENST00000355749.2	37	c.146A>C	CCDS5788.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	26.4|26.4	4.732605|4.732605	0.89482|0.89482	.|.	.|.	ENSG00000128609|ENSG00000128609	ENST00000471770;ENST00000355749;ENST00000470123|ENST00000378795	.|.	.|.	.|.	5.54|5.54	5.54|5.54	0.83059|0.83059	.|.	.|.	.|.	.|.	.|.	D|D	0.86268|0.86268	0.5892|0.5892	H|H	0.94222|0.94222	3.51|3.51	0.80722|0.80722	D|D	1|1	D|.	0.76494|.	0.999|.	D|.	0.69479|.	0.964|.	D|D	0.90091|0.90091	0.4177|0.4177	8|5	0.87932|.	D|.	0|.	.|.	14.9406|14.9406	0.70992|0.70992	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	49|.	Q16718|.	NDUA5_HUMAN|.	A|S	49;49;59|44	.|.	ENSP00000347988:E49A|.	E|R	-|-	2|3	0|2	NDUFA5|NDUFA5	122977797|122977797	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.992000|0.992000	0.81027|0.81027	6.095000|6.095000	0.71439|0.71439	2.220000|2.220000	0.72140|0.72140	0.533000|0.533000	0.62120|0.62120	GAA|AGA		0.333	NDUFA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348533.1	NM_005000		4	119	0	0	0	1	0	4	119					G	123190561	T	G	123190561	3	3	435	1	0	0	0	0	1	0	0	0	10268	1783	62	5	216	5	NDUFA5	7	123190561	Missense_Mutation	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	434953	123190561	35948102	3784	24709											
SPAM1	6677	broad.mit.edu	37	chr7	123594143	123594143	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aggtctattgaattggttcaGcaacaaaatgtacaacttag	15	12	8	6	0	2	1	1	1	1	0	2	1	2	1	0	2	4	3	0	2	8	6			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:123594143G>A	ENST00000439500.1	+	4	1132	c.519G>A	c.(517-519)caG>caA	p.Q173Q	SPAM1_ENST00000340011.5_Silent_p.Q173Q|SPAM1_ENST00000402183.2_Silent_p.Q173Q|SPAM1_ENST00000223028.7_Silent_p.Q173Q|SPAM1_ENST00000460182.1_Silent_p.Q173Q	NM_001174045.1|NM_001174046.1	NP_001167516.1|NP_001167517.1	P38567	HYALP_HUMAN	sperm adhesion molecule 1 (PH-20 hyaluronidase, zona pellucida binding)	173					binding of sperm to zona pellucida (GO:0007339)|carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|fusion of sperm to egg plasma membrane (GO:0007342)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)	hyalurononglucosaminidase activity (GO:0004415)			breast(1)|cervix(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(23)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						AATTGGTTCAGCAACAAAATG	0.403																																						ENST00000340011.5																			0				breast(1)|cervix(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(23)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						c.(517-519)caG>caA		sperm adhesion molecule 1 (PH-20 hyaluronidase, zona pellucida binding)	Hyaluronidase(DB00070)						63	65	64					7																	123594143		2202	4299	6501	SO:0001819	synonymous_variant	0				binding of sperm to zona pellucida|carbohydrate metabolic process|cell adhesion|fusion of sperm to egg plasma membrane	anchored to membrane|plasma membrane	hyalurononglucosaminidase activity	g.chr7:123594143G>A	L13781	CCDS5790.1, CCDS5791.1	7q31	2008-05-02			ENSG00000106304	ENSG00000106304			11217	protein-coding gene	gene with protein product		600930				8282124, 8575780	Standard	NM_153189		Approved	HYAL5, PH-20, SPAG15	uc003vle.3	P38567	OTTHUMG00000157284	ENST00000439500.1:c.519G>A	7.37:g.123594143G>A						SPAM1_ENST00000223028.7_Silent_p.Q173Q|SPAM1_ENST00000439500.1_Silent_p.Q173Q|SPAM1_ENST00000460182.1_Silent_p.Q173Q|SPAM1_ENST00000402183.2_Silent_p.Q173Q	p.Q173Q	NM_003117.4	NP_003108.2	P38567	HYALP_HUMAN			3	876	+			173					Q8TC30	Silent	SNP	ENST00000439500.1	37	c.519G>A	CCDS5791.1																																																																																				0.403	SPAM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000348309.1			21	30	0	0	0	1	0	21	30					A	123594143	G	A	123594143	2	1	435	1	0	0	0	0	0	0	0	1	14986	962	34	3		3	SPAM1	7	123594143	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	403582	123594143	35544520	3785	24710											
SPAM1	6677	broad.mit.edu	37	chr7	123595095	123595095	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gaaactgttgctctgggtgcTtctggaattgtaatatgggg	8	14	14	5	0	2	0	0	0	2	0	2	2	2	1	0	4	3	4	0	4	4	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:123595095T>C	ENST00000439500.1	+	5	1612	c.999T>C	c.(997-999)gcT>gcC	p.A333A	SPAM1_ENST00000340011.5_Silent_p.A333A|SPAM1_ENST00000402183.2_Silent_p.A333A|SPAM1_ENST00000223028.7_Silent_p.A333A|SPAM1_ENST00000460182.1_Silent_p.A333A	NM_001174045.1|NM_001174046.1	NP_001167516.1|NP_001167517.1	P38567	HYALP_HUMAN	sperm adhesion molecule 1 (PH-20 hyaluronidase, zona pellucida binding)	333					binding of sperm to zona pellucida (GO:0007339)|carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|fusion of sperm to egg plasma membrane (GO:0007342)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)	hyalurononglucosaminidase activity (GO:0004415)			breast(1)|cervix(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(23)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						CTCTGGGTGCTTCTGGAATTG	0.348																																						ENST00000340011.5																			0				breast(1)|cervix(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(23)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						c.(997-999)gcT>gcC		sperm adhesion molecule 1 (PH-20 hyaluronidase, zona pellucida binding)	Hyaluronidase(DB00070)						218	216	217					7																	123595095		2203	4300	6503	SO:0001819	synonymous_variant	0				binding of sperm to zona pellucida|carbohydrate metabolic process|cell adhesion|fusion of sperm to egg plasma membrane	anchored to membrane|plasma membrane	hyalurononglucosaminidase activity	g.chr7:123595095T>C	L13781	CCDS5790.1, CCDS5791.1	7q31	2008-05-02			ENSG00000106304	ENSG00000106304			11217	protein-coding gene	gene with protein product		600930				8282124, 8575780	Standard	NM_153189		Approved	HYAL5, PH-20, SPAG15	uc003vle.3	P38567	OTTHUMG00000157284	ENST00000439500.1:c.999T>C	7.37:g.123595095T>C						SPAM1_ENST00000223028.7_Silent_p.A333A|SPAM1_ENST00000439500.1_Silent_p.A333A|SPAM1_ENST00000460182.1_Silent_p.A333A|SPAM1_ENST00000402183.2_Silent_p.A333A	p.A333A	NM_003117.4	NP_003108.2	P38567	HYALP_HUMAN			4	1356	+			333					Q8TC30	Silent	SNP	ENST00000439500.1	37	c.999T>C	CCDS5791.1																																																																																				0.348	SPAM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000348309.1			42	82	0	0	0	1	0	42	82					C	123595095	T	C	123595095	2	2	435	1	0	0	0	0	0	0	0	1	14986	1596	56	4		4	SPAM1	7	123595095	Silent	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	952	123595095	35543568	3786	24711											
GPR37	2861	broad.mit.edu	37	chr7	124404888	124404888	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctgccgcggcgctggatcActgtaggtgcacagctctcc	5	8	12	16	3	2	0	1	0	1	0	3	1	2	1	3	3	3	4	3	3	1	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:124404888A>G	ENST00000303921.2	-	1	793	c.143T>C	c.(142-144)gTg>gCg	p.V48A		NM_005302.3	NP_005293.1	O15354	GPR37_HUMAN	G protein-coupled receptor 37 (endothelin receptor type B-like)	48					dopamine biosynthetic process (GO:0042416)|G-protein coupled receptor signaling pathway (GO:0007186)|locomotion involved in locomotory behavior (GO:0031987)|positive regulation of dopamine metabolic process (GO:0045964)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|ubiquitin ligase complex (GO:0000151)	G-protein coupled receptor activity (GO:0004930)|heat shock protein binding (GO:0031072)|Hsp70 protein binding (GO:0030544)|ubiquitin protein ligase binding (GO:0031625)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(11)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						GCGCTGGATCACTGTAGGTGC	0.632																																						ENST00000303921.2																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(11)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(142-144)gTg>gCg		G protein-coupled receptor 37 (endothelin receptor type B-like)							26	29	28					7																	124404888		2203	4300	6503	SO:0001583	missense	2861					endoplasmic reticulum membrane|integral to plasma membrane	G-protein coupled receptor activity	g.chr7:124404888A>G		CCDS5792.1	7q31	2012-08-21			ENSG00000170775	ENSG00000170775		"GPCR / Class A : Orphans"	4494	protein-coding gene	gene with protein product		602583				9339362	Standard	NM_005302		Approved	EDNRBL, hET(B)R-LP, PAELR	uc003vli.4	O15354	OTTHUMG00000157197	ENST00000303921.2:c.143T>C	7.37:g.124404888A>G	ENSP00000306449:p.Val48Ala						p.V48A	NM_005302.2	NP_005293.1	O15354	GPR37_HUMAN			1	793	-			48					A4D0Y6|O00348|O14768|Q8TD39	Missense_Mutation	SNP	ENST00000303921.2	37	c.143T>C	CCDS5792.1	.	.	.	.	.	.	.	.	.	.	A	9.047	0.991204	0.18966	.	.	ENSG00000170775	ENST00000303921	T	0.07567	3.18	5.31	1.37	0.22104	.	1.268090	0.05645	N	0.584067	T	0.05914	0.0154	N	0.08118	0	0.20926	N	0.999825	B	0.11235	0.004	B	0.06405	0.002	T	0.44081	-0.9351	10	0.59425	D	0.04	-1.7881	10.7143	0.46002	0.5141:0.4859:0.0:0.0	.	48	O15354	GPR37_HUMAN	A	48	ENSP00000306449:V48A	ENSP00000306449:V48A	V	-	2	0	GPR37	124192124	0.000000	0.05858	0.364000	0.25888	0.093000	0.18481	-0.175000	0.09825	0.073000	0.16731	0.533000	0.62120	GTG		0.632	GPR37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347873.1	NM_005302		5	15	0	0	0	1	0	5	15					G	124404888	A	G	124404888	3	3	435	1	0	0	0	0	1	0	0	0	6691	159	6	4	1706	4	GPR37	7	124404888	Missense_Mutation	SNP	A	TCGA-XK-AAIW-01A-11D-A41K-08	809793	124404888	34733775	3787	24712											
GRM8	2918	broad.mit.edu	37	chr7	126746587	126746587	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgggtgaaggcctccacaccGctctcaccatagttcccctc	7	9	8	17	1	1	1	1	1	1	0	5	1	3	1	6	2	0	2	6	2	2	2	rs146491203		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:126746587G>A	ENST00000339582.2	-	3	1498	c.690C>T	c.(688-690)agC>agT	p.S230S	GRM8_ENST00000405249.1_Silent_p.S230S|GRM8_ENST00000358373.3_Silent_p.S230S|GRM8_ENST00000444921.2_Silent_p.S230S|GRM8_ENST00000480995.1_5'UTR			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	230					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|negative regulation of cAMP biosynthetic process (GO:0030818)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of smell (GO:0007608)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)				CCTCCACACCGCTCTCACCAT	0.502										HNSCC(24;0.065)			G|||	1	0.000199681	0	0	5008	,	,		19595	0		0	False		,,,				2504	0.001					ENST00000339582.2																			0				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125						c.(688-690)agC>agT		glutamate receptor, metabotropic 8	L-Glutamic Acid(DB00142)	G	,	0,4406		0,0,2203	120	100	107		690,690	-6.6	1	7	dbSNP_134	107	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	GRM8	NM_000845.2,NM_001127323.1	,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,	230/909,230/909	126746587	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0				negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane		g.chr7:126746587G>A		CCDS5794.1, CCDS47696.1	7q31.3-q32.1	2012-08-29			ENSG00000179603	ENSG00000179603		"GPCR / Class C : Glutamate receptors, metabotropic", "Glutamate receptors"	4600	protein-coding gene	gene with protein product		601116				8824806	Standard	NM_000845		Approved	GLUR8, GPRC1H, mGlu8, MGLUR8	uc003vlr.2	O00222	OTTHUMG00000022888	ENST00000339582.2:c.690C>T	7.37:g.126746587G>A		HNSCC(24;0.065)				GRM8_ENST00000358373.3_Silent_p.S230S|GRM8_ENST00000444921.2_Silent_p.S230S|GRM8_ENST00000405249.1_Silent_p.S230S|GRM8_ENST00000480995.1_5'UTR	p.S230S			O00222	GRM8_HUMAN			3	1498	-		Prostate(267;0.186)	230					A4D0Y3|B0FZ74|B0M0L0|O15493|O95945|O95946|Q3MIV9|Q52M02|Q6J165	Silent	SNP	ENST00000339582.2	37	c.690C>T	CCDS5794.1																																																																																				0.502	GRM8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059209.4			7	14	0	0	0	1	0	7	14					A	126746587	G	A	126746587	2	1	435	1	0	0	0	0	0	0	0	1	6803	1078	38	1		1	GRM8	7	126746587	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	2341699	126746587	32392076	3788	24713											
GRM8	2918	broad.mit.edu	37	chr7	126882824	126882824	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctatgacgccagaaatcttGtcgggcttggtgaaaatggg	10	10	13	8	2	1	3	0	2	1	1	2	3	1	3	2	3	0	1	2	3	4	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:126882824G>A	ENST00000339582.2	-	2	1243	c.435C>T	c.(433-435)gaC>gaT	p.D145D	GRM8_ENST00000405249.1_Silent_p.D145D|GRM8_ENST00000358373.3_Silent_p.D145D|GRM8_ENST00000444921.2_Silent_p.D145D			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	145					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|negative regulation of cAMP biosynthetic process (GO:0030818)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of smell (GO:0007608)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)				CAGAAATCTTGTCGGGCTTGG	0.443										HNSCC(24;0.065)																												ENST00000339582.2																			0				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125						c.(433-435)gaC>gaT		glutamate receptor, metabotropic 8	L-Glutamic Acid(DB00142)						163	134	144					7																	126882824		2203	4300	6503	SO:0001819	synonymous_variant	0				negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane		g.chr7:126882824G>A		CCDS5794.1, CCDS47696.1	7q31.3-q32.1	2012-08-29			ENSG00000179603	ENSG00000179603		"GPCR / Class C : Glutamate receptors, metabotropic", "Glutamate receptors"	4600	protein-coding gene	gene with protein product		601116				8824806	Standard	NM_000845		Approved	GLUR8, GPRC1H, mGlu8, MGLUR8	uc003vlr.2	O00222	OTTHUMG00000022888	ENST00000339582.2:c.435C>T	7.37:g.126882824G>A		HNSCC(24;0.065)				GRM8_ENST00000358373.3_Silent_p.D145D|GRM8_ENST00000444921.2_Silent_p.D145D|GRM8_ENST00000405249.1_Silent_p.D145D	p.D145D			O00222	GRM8_HUMAN			2	1243	-		Prostate(267;0.186)	145					A4D0Y3|B0FZ74|B0M0L0|O15493|O95945|O95946|Q3MIV9|Q52M02|Q6J165	Silent	SNP	ENST00000339582.2	37	c.435C>T	CCDS5794.1																																																																																				0.443	GRM8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059209.4			27	39	0	0	0	1	0	27	39					A	126882824	G	A	126882824	2	1	435	1	0	0	0	0	0	0	0	1	6803	1368	48	3		3	GRM8	7	126882824	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	136237	126882824	32255839	3789	24714											
FSCN3	29999	broad.mit.edu	37	chr7	127235682	127235682	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acagccccatccaccgctgcTatgcccgggctgaccccact	7	6	8	20	2	0	1	0	1	0	0	1	1	1	1	7	1	3	3	7	1	1	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:127235682T>C	ENST00000265825.5	+	2	685	c.466T>C	c.(466-468)Tat>Cat	p.Y156H	GCC1_ENST00000497650.1_5'Flank|FSCN3_ENST00000420086.2_Missense_Mutation_p.Y22H	NM_020369.2	NP_065102.1	Q9NQT6	FSCN3_HUMAN	fascin actin-bundling protein 3, testicular	156						actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				endometrium(2)|large_intestine(3)|liver(2)|lung(17)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30						CCACCGCTGCTATGCCCGGGC	0.607																																						ENST00000265825.5																			0				endometrium(2)|large_intestine(3)|liver(2)|lung(17)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30						c.(466-468)Tat>Cat		fascin homolog 3, actin-bundling protein, testicular (Strongylocentrotus purpuratus)							102	85	91					7																	127235682		2203	4300	6503	SO:0001583	missense	29999					actin cytoskeleton|cytoplasm	actin filament binding|protein binding, bridging	g.chr7:127235682T>C		CCDS34746.1	7q31.3	2014-02-03	2014-02-03		ENSG00000106328	ENSG00000106328		"Fascins"	3961	protein-coding gene	gene with protein product		615800	"fascin (Strongylocentrotus purpuratus) homolog 3 (actin-bundling protein, testicular)", "fascin homolog 3, actin-bundling protein, testicular (Strongylocentrotus purpuratus)"			11925108	Standard	NM_020369		Approved		uc003vmd.2	Q9NQT6	OTTHUMG00000022935	ENST00000265825.5:c.466T>C	7.37:g.127235682T>C	ENSP00000265825:p.Tyr156His					FSCN3_ENST00000420086.2_Missense_Mutation_p.Y22H	p.Y156H	NM_020369.2	NP_065102.1	Q9NQT6	FSCN3_HUMAN			2	685	+			156					A4D0Z2|A6NLL7|B2RA62|B4DU68	Missense_Mutation	SNP	ENST00000265825.5	37	c.466T>C	CCDS34746.1	.	.	.	.	.	.	.	.	.	.	T	21.7	4.193425	0.78902	.	.	ENSG00000106328	ENST00000265825;ENST00000420086	T;T	0.63913	0.6;-0.07	5.58	5.58	0.84498	Actin cross-linking (1);	0.111366	0.40908	D	0.000990	T	0.77082	0.4078	M	0.69823	2.125	0.39201	D	0.963136	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.81015	-0.1124	10	0.87932	D	0	-34.0856	12.4349	0.55595	0.0:0.0:0.0:1.0	.	22;156	B4DU68;Q9NQT6	.;FSCN3_HUMAN	H	156;22	ENSP00000265825:Y156H;ENSP00000412243:Y22H	ENSP00000265825:Y156H	Y	+	1	0	FSCN3	127022918	1.000000	0.71417	0.998000	0.56505	0.967000	0.64934	4.908000	0.63307	2.250000	0.74265	0.528000	0.53228	TAT		0.607	FSCN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059256.2	NM_020369		14	23	0	0	0	1	0	14	23					C	127235682	T	C	127235682	3	2	435	1	0	0	0	0	1	0	0	0	6069	1522	53	4	472	4	FSCN3	7	127235682	Missense_Mutation	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	352858	127235682	31902981	3790	24715											
FSCN3	29999	broad.mit.edu	37	chr7	127236393	127236393	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cctctgcagatggtgaggtgCgtgctgcttctgagcgctta	5	12	14	10	2	2	3	0	2	2	1	2	3	2	3	1	2	5	4	1	2	1	2	rs148605578		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:127236393C>T	ENST00000265825.5	+	3	1072	c.853C>T	c.(853-855)Cgt>Tgt	p.R285C	GCC1_ENST00000497650.1_5'Flank|FSCN3_ENST00000420086.2_Missense_Mutation_p.R151C	NM_020369.2	NP_065102.1	Q9NQT6	FSCN3_HUMAN	fascin actin-bundling protein 3, testicular	285						actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)		p.R285C(2)		endometrium(2)|large_intestine(3)|liver(2)|lung(17)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30						TGGTGAGGTGCGTGCTGCTTC	0.552																																						ENST00000265825.5																			2	Substitution - Missense(2)	p.R285C(2)	large_intestine(1)|endometrium(1)	endometrium(2)|large_intestine(3)|liver(2)|lung(17)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30						c.(853-855)Cgt>Tgt		fascin homolog 3, actin-bundling protein, testicular (Strongylocentrotus purpuratus)		C	CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	242	209	220		853	2.7	0.2	7	dbSNP_134	220	0,8600		0,0,4300	no	missense	FSCN3	NM_020369.2	180	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign	285/499	127236393	1,13005	2203	4300	6503	SO:0001583	missense	29999					actin cytoskeleton|cytoplasm	actin filament binding|protein binding, bridging	g.chr7:127236393C>T		CCDS34746.1	7q31.3	2014-02-03	2014-02-03		ENSG00000106328	ENSG00000106328		"Fascins"	3961	protein-coding gene	gene with protein product		615800	"fascin (Strongylocentrotus purpuratus) homolog 3 (actin-bundling protein, testicular)", "fascin homolog 3, actin-bundling protein, testicular (Strongylocentrotus purpuratus)"			11925108	Standard	NM_020369		Approved		uc003vmd.2	Q9NQT6	OTTHUMG00000022935	ENST00000265825.5:c.853C>T	7.37:g.127236393C>T	ENSP00000265825:p.Arg285Cys					FSCN3_ENST00000420086.2_Missense_Mutation_p.R151C	p.R285C	NM_020369.2	NP_065102.1	Q9NQT6	FSCN3_HUMAN			3	1072	+			285					A4D0Z2|A6NLL7|B2RA62|B4DU68	Missense_Mutation	SNP	ENST00000265825.5	37	c.853C>T	CCDS34746.1	.	.	.	.	.	.	.	.	.	.	C	2.163	-0.391742	0.04932	2.27E-4	0.0	ENSG00000106328	ENST00000265825;ENST00000420086	T;T	0.43688	1.54;0.94	5.46	2.7	0.31948	Fascin domain (1);Actin cross-linking (1);	0.606401	0.16719	N	0.202340	T	0.11495	0.0280	N	0.00308	-1.67	0.09310	N	0.999999	B;B	0.14012	0.009;0.0	B;B	0.12156	0.007;0.0	T	0.27468	-1.0073	10	0.27785	T	0.31	-34.8419	7.4384	0.27169	0.0:0.1632:0.0:0.8368	.	151;285	B4DU68;Q9NQT6	.;FSCN3_HUMAN	C	285;151	ENSP00000265825:R285C;ENSP00000412243:R151C	ENSP00000265825:R285C	R	+	1	0	FSCN3	127023629	0.002000	0.14202	0.162000	0.22713	0.027000	0.11550	0.424000	0.21330	0.399000	0.25367	-0.794000	0.03295	CGT		0.552	FSCN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059256.2	NM_020369		55	87	0	0	0	1	0	55	87					T	127236393	C	T	127236393	3	4	435	1	0	0	0	0	1	0	0	0	6069	768	27	1	863	1	FSCN3	7	127236393	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	711	127236393	31902270	3791	24716											
LEP	3952	broad.mit.edu	37	chr7	127894591	127894591	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	accagtatgccttccagaaaCgtgatccaaatatccaacga	15	8	6	12	2	0	2	0	1	0	1	3	3	3	2	5	0	3	1	5	0	5	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:127894591C>T	ENST00000308868.4	+	3	330	c.279C>T	c.(277-279)aaC>aaT	p.N93N		NM_000230.2	NP_000221.1	P41159	LEP_HUMAN	leptin	93					adipose tissue development (GO:0060612)|adult feeding behavior (GO:0008343)|bile acid metabolic process (GO:0008206)|bone mineralization involved in bone maturation (GO:0035630)|cellular response to L-ascorbic acid (GO:0071298)|cellular response to retinoic acid (GO:0071300)|central nervous system neuron development (GO:0021954)|cholesterol metabolic process (GO:0008203)|circadian rhythm (GO:0007623)|eating behavior (GO:0042755)|energy reserve metabolic process (GO:0006112)|fatty acid beta-oxidation (GO:0006635)|female pregnancy (GO:0007565)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glycerol biosynthetic process (GO:0006114)|hormone metabolic process (GO:0042445)|insulin secretion (GO:0030073)|leptin-mediated signaling pathway (GO:0033210)|leukocyte tethering or rolling (GO:0050901)|negative regulation of apoptotic process (GO:0043066)|negative regulation of appetite (GO:0032099)|negative regulation of cartilage development (GO:0061037)|negative regulation of glucagon secretion (GO:0070093)|negative regulation of glutamine transport (GO:2000486)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of vasoconstriction (GO:0045906)|ovulation from ovarian follicle (GO:0001542)|placenta development (GO:0001890)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokine production (GO:0001819)|positive regulation of developmental growth (GO:0048639)|positive regulation of follicle-stimulating hormone secretion (GO:0046881)|positive regulation of hepatic stellate cell activation (GO:2000491)|positive regulation of insulin receptor signaling pathway (GO:0046628)|positive regulation of ion transport (GO:0043270)|positive regulation of luteinizing hormone secretion (GO:0033686)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of myeloid cell differentiation (GO:0045639)|positive regulation of STAT protein import into nucleus (GO:2000366)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|regulation of blood pressure (GO:0008217)|regulation of fat cell differentiation (GO:0045598)|regulation of gluconeogenesis (GO:0006111)|regulation of insulin secretion (GO:0050796)|regulation of intestinal cholesterol absorption (GO:0030300)|regulation of lipoprotein lipid oxidation (GO:0060587)|regulation of steroid biosynthetic process (GO:0050810)|response to dietary excess (GO:0002021)|response to hypoxia (GO:0001666)|response to insulin (GO:0032868)|response to vitamin E (GO:0033197)|tyrosine phosphorylation of STAT protein (GO:0007260)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)				endometrium(1)|large_intestine(2)|lung(5)	8						CTTCCAGAAACGTGATCCAAA	0.547																																						ENST00000308868.4																			0				endometrium(1)|large_intestine(2)|lung(5)	8						c.(277-279)aaC>aaT		leptin							144	135	138					7																	127894591		2203	4300	6503	SO:0001819	synonymous_variant	3952				adult feeding behavior|energy reserve metabolic process|negative regulation of appetite|placenta development|positive regulation of developmental growth	extracellular space		g.chr7:127894591C>T		CCDS5800.1	7q31	2008-03-06	2008-03-06		ENSG00000174697	ENSG00000174697			6553	protein-coding gene	gene with protein product		164160	"leptin (murine obesity homolog)", "leptin (obesity homolog, mouse)"	OBS, OB		1686014, 16932309	Standard	NM_000230		Approved		uc003vml.2	P41159	OTTHUMG00000157564	ENST00000308868.4:c.279C>T	7.37:g.127894591C>T							p.N93N	NM_000230.2	NP_000221.1	P41159	LEP_HUMAN			3	330	+			93					O15158|Q56A88	Silent	SNP	ENST00000308868.4	37	c.279C>T	CCDS5800.1																																																																																				0.547	LEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349174.1			13	55	0	0	0	1	0	13	55					T	127894591	C	T	127894591	2	4	435	1	0	0	0	0	0	0	0	1	8727	535	19	1		1	LEP	7	127894591	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	658198	127894591	31244072	3792	24717											
RBM28	55131	broad.mit.edu	37	chr7	127979741	127979741	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttttcttggcaacagtcaCgttgatcttgcaaccttcaa	9	16	6	10	1	4	1	2	1	2	0	4	1	4	1	1	1	3	3	1	1	3	7			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:127979741C>T	ENST00000223073.2	-	2	337	c.223G>A	c.(223-225)Gtg>Atg	p.V75M	RBM28_ENST00000415472.2_Intron	NM_018077.2	NP_060547.2	Q9NW13	RBM28_HUMAN	RNA binding motif protein 28	75	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleolus (GO:0005730)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|kidney(7)|large_intestine(3)|lung(8)|ovary(2)	21						GCAACAGTCACGTTGATCTTG	0.438																																						ENST00000223073.1																			0				breast(1)|kidney(7)|large_intestine(3)|lung(8)|ovary(2)	21						c.(223-225)Gtg>Atg		RNA binding motif protein 28							170	166	168					7																	127979741		2203	4300	6503	SO:0001583	missense	55131				mRNA processing|RNA splicing	Golgi apparatus|nucleolus|spliceosomal complex	nucleotide binding|RNA binding	g.chr7:127979741C>T	AK001239	CCDS5801.1, CCDS55159.1	7q32.2	2013-02-12			ENSG00000106344	ENSG00000106344		"RNA binding motif (RRM) containing"	21863	protein-coding gene	gene with protein product		612074					Standard	NM_018077		Approved	FLJ10377	uc003vmp.2	Q9NW13	OTTHUMG00000157711	ENST00000223073.2:c.223G>A	7.37:g.127979741C>T	ENSP00000223073:p.Val75Met					RBM28_ENST00000415472.2_Intron	p.V75M	NM_018077.2	NP_060547.2	Q9NW13	RBM28_HUMAN			2	337	-			75			RRM 1.		A4D100|B4DU52|E9PDD9|Q53H65|Q96CV3	Missense_Mutation	SNP	ENST00000223073.2	37	c.223G>A	CCDS5801.1	.	.	.	.	.	.	.	.	.	.	C	14.37	2.515017	0.44763	.	.	ENSG00000106344	ENST00000223073;ENST00000478061;ENST00000459726	T;T;T	0.58210	0.35;2.72;2.72	5.85	3.06	0.35304	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (2);	0.116872	0.56097	D	0.000025	T	0.55561	0.1928	M	0.90759	3.145	0.80722	D	1	B	0.24258	0.1	B	0.21151	0.033	T	0.55471	-0.8136	10	0.87932	D	0	-6.646	6.1328	0.20215	0.1399:0.6515:0.1348:0.0738	.	75	Q9NW13	RBM28_HUMAN	M	75;75;109	ENSP00000223073:V75M;ENSP00000418071:V75M;ENSP00000420503:V109M	ENSP00000223073:V75M	V	-	1	0	RBM28	127766977	0.564000	0.26602	0.048000	0.18961	0.604000	0.37047	1.199000	0.32235	0.379000	0.24794	-0.156000	0.13503	GTG		0.438	RBM28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349442.2	NM_018077		30	60	0	0	0	1	0	30	60					T	127979741	C	T	127979741	3	4	435	1	0	0	0	0	1	0	0	0	13128	536	19	1	2128	1	RBM28	7	127979741	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	85150	127979741	31158922	3793	24718											
CALU	813	broad.mit.edu	37	chr7	128407537	128407537	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtacagccatgatgggaataCtgatgagccagaatgggtaa	14	8	13	6	0	0	4	0	3	0	1	0	5	0	5	2	2	4	2	2	2	5	3	rs150941182		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:128407537C>T	ENST00000249364.4	+	6	773	c.671C>T	c.(670-672)aCt>aTt	p.T224I	CALU_ENST00000535011.2_Intron|CALU_ENST00000542996.2_Missense_Mutation_p.T232I|CALU_ENST00000538546.1_Missense_Mutation_p.T73I|CALU_ENST00000479257.1_Missense_Mutation_p.T232I|CALU_ENST00000449187.2_Missense_Mutation_p.T224I|CALU_ENST00000535623.1_3'UTR	NM_001219.4	NP_001210.1	O43852	CALU_HUMAN	calumenin	224					blood coagulation (GO:0007596)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|sarcoplasmic reticulum (GO:0016529)	calcium ion binding (GO:0005509)			kidney(2)|large_intestine(3)|lung(5)	10						GATGGGAATACTGATGAGCCA	0.463													C|||	1	0.000199681	8e-04	0	5008	,	,		22896	0		0	False		,,,				2504	0					ENST00000542996.2																			0				kidney(2)|large_intestine(3)|lung(5)	10						c.(694-696)aCt>aTt		calumenin							177	167	170					7																	128407537		2203	4300	6503	SO:0001583	missense	813				platelet activation|platelet degranulation	extracellular region|Golgi apparatus|melanosome|sarcoplasmic reticulum lumen	calcium ion binding|protein binding	g.chr7:128407537C>T	AF013759	CCDS5805.1, CCDS47703.1, CCDS56506.1, CCDS56507.1, CCDS56508.1	7q32	2013-01-10			ENSG00000128595	ENSG00000128595		"EF-hand domain containing"	1458	protein-coding gene	gene with protein product		603420				9598325	Standard	NM_001219		Approved		uc003vnq.3	O43852	OTTHUMG00000158274	ENST00000249364.4:c.671C>T	7.37:g.128407537C>T	ENSP00000249364:p.Thr224Ile					CALU_ENST00000449187.2_Missense_Mutation_p.T224I|CALU_ENST00000535011.2_Intron|CALU_ENST00000538546.1_Missense_Mutation_p.T73I|CALU_ENST00000535623.1_3'UTR|CALU_ENST00000249364.4_Missense_Mutation_p.T224I|CALU_ENST00000479257.1_Missense_Mutation_p.T232I	p.T232I	NM_001199672.1	NP_001186601.1	O43852	CALU_HUMAN			7	1638	+			224			EF-hand 5.		B3KPG9|D6QS48|D6QS49|D6QS50|D6QS51|D6QS52|D6QS53|D6QS54|D6QS55|D6QS56|D6QS57|D6QS58|D6QS59|F5H1Q9|F5H879|O60456|Q6FHB9|Q96RL3|Q9NR43	Missense_Mutation	SNP	ENST00000249364.4	37	c.695C>T	CCDS5805.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	14.30	2.494960	0.44352	.	.	ENSG00000128595	ENST00000542996;ENST00000538394;ENST00000538546;ENST00000249364;ENST00000449187;ENST00000479257	T;T;T;T;T	0.54479	0.57;0.57;0.57;0.57;0.57	5.44	5.44	0.79542	EF-hand-like domain (1);	0.218354	0.47455	D	0.000229	T	0.40979	0.1139	N	0.17723	0.515	0.26854	N	0.968108	B;B	0.19331	0.035;0.003	B;B	0.17098	0.014;0.017	T	0.35919	-0.9769	10	0.48119	T	0.1	-2.9215	16.762	0.85514	0.0:1.0:0.0:0.0	.	232;224	D6QS48;O43852	.;CALU_HUMAN	I	232;224;73;224;224;232	ENSP00000438248:T232I;ENSP00000438994:T73I;ENSP00000249364:T224I;ENSP00000408838:T224I;ENSP00000420381:T232I	ENSP00000249364:T224I	T	+	2	0	CALU	128194773	0.110000	0.22057	1.000000	0.80357	0.964000	0.63967	2.608000	0.46308	2.561000	0.86390	0.563000	0.77884	ACT		0.463	CALU-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350533.1	NM_001219		23	35	0	0	0	1	0	23	35					T	128407537	C	T	128407537	3	4	435	1	0	0	0	0	1	0	0	0	2594	565	20	3	887	3	CALU	7	128407537	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	427796	128407537	30731126	3794	24719											
OPN1SW	611	broad.mit.edu	37	chr7	128412651	128412651	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acttctgttttctgggagctGcatgtgtcggattcatctgt	5	17	11	8	1	4	0	1	0	3	0	5	2	4	2	0	2	2	3	0	2	0	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:128412651G>C	ENST00000249389.2	-	5	989	c.990C>G	c.(988-990)tgC>tgG	p.C330W		NM_001708.2	NP_001699.1	P03999	OPSB_HUMAN	opsin 1 (cone pigments), short-wave-sensitive	330					phototransduction (GO:0007602)|phototransduction, visible light (GO:0007603)|protein-chromophore linkage (GO:0018298)|retinoid metabolic process (GO:0001523)|signal transduction (GO:0007165)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|photoreceptor outer segment membrane (GO:0042622)	G-protein coupled receptor activity (GO:0004930)|photoreceptor activity (GO:0009881)|receptor activity (GO:0004872)			NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|stomach(1)	19						TCTGGGAGCTGCATGTGTCGG	0.458																																						ENST00000249389.2																			0				NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|stomach(1)	19						c.(988-990)tgC>tgG		opsin 1 (cone pigments), short-wave-sensitive							207	179	188					7																	128412651		2203	4300	6503	SO:0001583	missense	611				phototransduction|protein-chromophore linkage|visual perception	integral to plasma membrane	G-protein coupled receptor activity|photoreceptor activity	g.chr7:128412651G>C	U53874	CCDS5806.1	7q31.3-q32	2013-01-08	2008-04-16		ENSG00000128617	ENSG00000128617		"GPCR / Class A : Opsin receptors"	1012	protein-coding gene	gene with protein product	"color blindness, tritan", "blue-sensitive opsin"	613522	"blue cone photoreceptor pigment"	BCP		2937147, 8270261	Standard	NM_001708		Approved	BOP, CBT	uc003vnt.4	P03999	OTTHUMG00000158311	ENST00000249389.2:c.990C>G	7.37:g.128412651G>C	ENSP00000249389:p.Cys330Trp						p.C330W	NM_001708.2	NP_001699.1	P03999	OPSB_HUMAN			5	989	-			330					Q13877	Missense_Mutation	SNP	ENST00000249389.2	37	c.990C>G	CCDS5806.1	.	.	.	.	.	.	.	.	.	.	G	8.722	0.914544	0.17907	.	.	ENSG00000128617	ENST00000249389	T	0.36878	1.23	5.7	3.36	0.38483	.	1.225170	0.05573	N	0.571450	T	0.23249	0.0562	N	0.08118	0	0.35771	D	0.82089	B	0.12630	0.006	B	0.06405	0.002	T	0.08806	-1.0704	10	0.87932	D	0	.	8.7346	0.34521	0.236:0.0:0.764:0.0	.	330	P03999	OPSB_HUMAN	W	330	ENSP00000249389:C330W	ENSP00000249389:C330W	C	-	3	2	OPN1SW	128199887	1.000000	0.71417	0.797000	0.32132	0.171000	0.22731	3.122000	0.50446	0.427000	0.26145	0.650000	0.86243	TGC		0.458	OPN1SW-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350655.1	NM_001708		5	50	0	0	0	1	0	5	50					C	128412651	G	C	128412651	3	2	435	1	0	0	0	0	1	0	0	0	10880	1311	46	5	60	5	OPN1SW	7	128412651	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	5114	128412651	30726012	3795	24720											
CCDC136	64753	broad.mit.edu	37	chr7	128451905	128451905	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctgcaggtgatgtatgacGccggtcaggcgaagcaggag	9	6	16	10	3	1	2	1	2	0	0	1	4	1	3	2	4	2	3	2	4	2	1	rs368143350		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:128451905G>A	ENST00000297788.4	+	13	2447	c.2080G>A	c.(2080-2082)Gcc>Acc	p.A694T	CCDC136_ENST00000378685.4_Intron|CCDC136_ENST00000487361.1_Intron|CCDC136_ENST00000464832.1_Intron	NM_022742.4	NP_073579	Q96JN2	CC136_HUMAN	coiled-coil domain containing 136	694						integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)				breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)	24						GATGTATGACGCCGGTCAGGC	0.582													G|||	1	0.000199681	8e-04	0	5008	,	,		19900	0		0	False		,,,				2504	0					ENST00000297788.4																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)	24						c.(2080-2082)Gcc>Acc		coiled-coil domain containing 136		G	,THR/ALA	2,3896		0,2,1947	47	48	48		,2080	-8.9	0	7		48	0,8294		0,0,4147	no	intron,missense	CCDC136	NM_001201372.1,NM_022742.4	,58	0,2,6094	AA,AG,GG		0.0,0.0513,0.0164	,benign	,694/1155	128451905	2,12190	1949	4147	6096	SO:0001583	missense	64753					integral to membrane	protein binding	g.chr7:128451905G>A		CCDS47704.1, CCDS56510.1	7q33	2007-08-01			ENSG00000128596	ENSG00000128596			22225	protein-coding gene	gene with protein product		611902				15112360	Standard	NM_022742		Approved	KIAA1793, NAG6, DKFZP434G156	uc003vnv.2	Q96JN2	OTTHUMG00000158310	ENST00000297788.4:c.2080G>A	7.37:g.128451905G>A	ENSP00000297788:p.Ala694Thr					CCDC136_ENST00000464832.1_Intron|CCDC136_ENST00000487361.1_Intron|CCDC136_ENST00000378685.4_Intron	p.A694T	NM_022742.4	NP_073579.4	Q96JN2	CC136_HUMAN			13	2447	+			694					A4D1K1|A7MCY7|A8MYA7|Q6ZVK7|Q9H8M3|Q9UFE1	Missense_Mutation	SNP	ENST00000297788.4	37	c.2080G>A	CCDS47704.1	.	.	.	.	.	.	.	.	.	.	G	11.40	1.627129	0.28978	5.13E-4	0.0	ENSG00000128596	ENST00000297788;ENST00000397697;ENST00000320524;ENST00000464672	T;T	0.49139	0.79;0.79	6.07	-8.92	0.00774	.	1.428410	0.04058	N	0.305857	T	0.28732	0.0712	L	0.39633	1.23	0.09310	N	1	B;B;B	0.23891	0.093;0.093;0.093	B;B;B	0.14578	0.011;0.011;0.011	T	0.09574	-1.0668	10	0.12430	T	0.62	1.4123	5.5715	0.17200	0.474:0.0:0.2322:0.2938	.	694;694;694	Q96JN2-4;Q96JN2-2;Q96JN2	.;.;CC136_HUMAN	T	694;694;694;285	ENSP00000297788:A694T;ENSP00000417991:A285T	ENSP00000297788:A694T	A	+	1	0	CCDC136	128239141	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.744000	0.04839	-1.879000	0.01126	-0.302000	0.09304	GCC		0.582	CCDC136-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000350641.1	NM_022742		15	26	0	0	0	1	0	15	26					A	128451905	G	A	128451905	3	1	435	1	0	0	0	0	1	0	0	0	2770	1087	38	1	2130	1	CCDC136	7	128451905	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	39254	128451905	30686758	3796	24721											
FLNC	2318	broad.mit.edu	37	chr7	128470942	128470942	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagccagaagcgcatgtaccGcaagttccatccgcgcccca	10	5	9	17	4	0	1	0	0	0	1	2	1	2	1	6	0	3	4	6	0	3	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:128470942G>A	ENST00000325888.8	+	1	512	c.251G>A	c.(250-252)cGc>cAc	p.R84H	FLNC_ENST00000346177.6_Missense_Mutation_p.R84H	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	84	Actin-binding.|CH 1. {ECO:0000255|PROSITE- ProRule:PRU00044}.				cell junction assembly (GO:0034329)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|cytoskeletal protein binding (GO:0008092)			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						CGCATGTACCGCAAGTTCCAT	0.637																																						ENST00000325888.8																			0				biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						c.(250-252)cGc>cAc		filamin C, gamma							58	60	60					7																	128470942		2203	4300	6503	SO:0001583	missense	2318				cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding	g.chr7:128470942G>A	AB208865	CCDS43644.1, CCDS47705.1	7q32-q35	2014-09-17	2009-07-23		ENSG00000128591	ENSG00000128591			3756	protein-coding gene	gene with protein product	"actin binding protein 280"	102565	"filamin C, gamma (actin binding protein 280)"	FLN2		7689010, 8088838	Standard	NM_001458		Approved	ABP-280, ABPL	uc003vnz.4	Q14315	OTTHUMG00000023627	ENST00000325888.8:c.251G>A	7.37:g.128470942G>A	ENSP00000327145:p.Arg84His					FLNC_ENST00000346177.6_Missense_Mutation_p.R84H	p.R84H	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN			1	512	+			84			Actin-binding.|CH 1.		B2ZZ88|O95303|Q07985|Q9NS12|Q9NYE5|Q9UMR8|Q9Y503	Missense_Mutation	SNP	ENST00000325888.8	37	c.251G>A	CCDS43644.1	.	.	.	.	.	.	.	.	.	.	G	25.5	4.646362	0.87958	.	.	ENSG00000128591	ENST00000325888;ENST00000346177	D;D	0.95137	-3.62;-3.62	4.49	4.49	0.54785	Calponin homology domain (5);	0.000000	0.85682	D	0.000000	D	0.95153	0.8429	M	0.64080	1.96	0.53005	D	0.999965	D;B	0.63880	0.993;0.058	P;B	0.52672	0.706;0.017	D	0.95618	0.8678	10	0.66056	D	0.02	.	16.1083	0.81241	0.0:0.0:1.0:0.0	.	84;84	Q14315-2;Q14315	.;FLNC_HUMAN	H	84	ENSP00000327145:R84H;ENSP00000344002:R84H	ENSP00000327145:R84H	R	+	2	0	FLNC	128258178	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.920000	0.87521	2.208000	0.71279	0.561000	0.74099	CGC		0.637	FLNC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059948.3			14	13	0	0	0	1	0	14	13					A	128470942	G	A	128470942	3	1	435	1	0	0	0	0	1	0	0	0	5935	1087	38	1	253	1	FLNC	7	128470942	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	19037	128470942	30667721	3797	24722											
FLNC	2318	broad.mit.edu	37	chr7	128478072	128478072	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcccaacaatgacaaggatcGcacctatgctgtctcctatg	11	10	7	13	1	1	1	0	1	1	0	4	2	2	2	3	1	2	2	3	1	5	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:128478072G>A	ENST00000325888.8	+	6	1262	c.1001G>A	c.(1000-1002)cGc>cAc	p.R334H	FLNC_ENST00000346177.6_Missense_Mutation_p.R334H	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	334					cell junction assembly (GO:0034329)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|cytoskeletal protein binding (GO:0008092)			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						GACAAGGATCGCACCTATGCT	0.542																																						ENST00000325888.8																			0				biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						c.(1000-1002)cGc>cAc		filamin C, gamma							134	145	142					7																	128478072		2096	4218	6314	SO:0001583	missense	2318				cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding	g.chr7:128478072G>A	AB208865	CCDS43644.1, CCDS47705.1	7q32-q35	2014-09-17	2009-07-23		ENSG00000128591	ENSG00000128591			3756	protein-coding gene	gene with protein product	"actin binding protein 280"	102565	"filamin C, gamma (actin binding protein 280)"	FLN2		7689010, 8088838	Standard	NM_001458		Approved	ABP-280, ABPL	uc003vnz.4	Q14315	OTTHUMG00000023627	ENST00000325888.8:c.1001G>A	7.37:g.128478072G>A	ENSP00000327145:p.Arg334His					FLNC_ENST00000346177.6_Missense_Mutation_p.R334H	p.R334H	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN			6	1262	+			334					B2ZZ88|O95303|Q07985|Q9NS12|Q9NYE5|Q9UMR8|Q9Y503	Missense_Mutation	SNP	ENST00000325888.8	37	c.1001G>A	CCDS43644.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.383845	0.82792	.	.	ENSG00000128591	ENST00000325888;ENST00000346177	T;T	0.63096	-0.02;-0.02	5.64	5.64	0.86602	Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.057271	0.64402	D	0.000006	T	0.73900	0.3646	L	0.61218	1.895	0.41718	D	0.989499	D;D	0.76494	0.999;0.997	D;D	0.66497	0.944;0.938	T	0.76027	-0.3109	10	0.66056	D	0.02	.	11.9853	0.53145	0.0875:0.0:0.9125:0.0	.	334;334	Q14315-2;Q14315	.;FLNC_HUMAN	H	334	ENSP00000327145:R334H;ENSP00000344002:R334H	ENSP00000327145:R334H	R	+	2	0	FLNC	128265308	0.827000	0.29292	0.998000	0.56505	0.749000	0.42624	3.226000	0.51254	2.651000	0.90000	0.655000	0.94253	CGC		0.542	FLNC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059948.3			28	46	0	0	0	1	0	28	46					A	128478072	G	A	128478072	3	1	435	1	0	0	0	0	1	0	0	0	5935	1087	38	1	1023	1	FLNC	7	128478072	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	7130	128478072	30660591	3798	24723											
FLNC	2318	broad.mit.edu	37	chr7	128480708	128480708	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggtgaccatcacgtggggCggctacgccatccctcgcag	6	7	14	14	4	1	1	1	1	0	0	3	1	2	1	3	4	1	2	3	4	1	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:128480708C>T	ENST00000325888.8	+	10	1917	c.1656C>T	c.(1654-1656)ggC>ggT	p.G552G	FLNC_ENST00000346177.6_Silent_p.G552G	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	552					cell junction assembly (GO:0034329)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|cytoskeletal protein binding (GO:0008092)			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						TCACGTGGGGCGGCTACGCCA	0.642																																						ENST00000325888.8																			0				biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						c.(1654-1656)ggC>ggT		filamin C, gamma							153	172	166					7																	128480708		2142	4236	6378	SO:0001819	synonymous_variant	2318				cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding	g.chr7:128480708C>T	AB208865	CCDS43644.1, CCDS47705.1	7q32-q35	2014-09-17	2009-07-23		ENSG00000128591	ENSG00000128591			3756	protein-coding gene	gene with protein product	"actin binding protein 280"	102565	"filamin C, gamma (actin binding protein 280)"	FLN2		7689010, 8088838	Standard	NM_001458		Approved	ABP-280, ABPL	uc003vnz.4	Q14315	OTTHUMG00000023627	ENST00000325888.8:c.1656C>T	7.37:g.128480708C>T						FLNC_ENST00000346177.6_Silent_p.G552G	p.G552G	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN			10	1917	+			552					B2ZZ88|O95303|Q07985|Q9NS12|Q9NYE5|Q9UMR8|Q9Y503	Silent	SNP	ENST00000325888.8	37	c.1656C>T	CCDS43644.1																																																																																				0.642	FLNC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059948.3			36	51	0	0	0	1	0	36	51					T	128480708	C	T	128480708	2	4	435	1	0	0	0	0	0	0	0	1	5935	755	27	1		1	FLNC	7	128480708	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	2636	128480708	30657955	3799	24724											
FLNC	2318	broad.mit.edu	37	chr7	128485188	128485188	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agccctgccttccctggcacCtacaccattaccatcaagta	10	9	5	17	0	1	0	1	0	0	0	2	0	2	0	6	1	4	2	6	1	4	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:128485188C>A	ENST00000325888.8	+	21	3930	c.3669C>A	c.(3667-3669)acC>acA	p.T1223T	FLNC_ENST00000346177.6_Silent_p.T1223T	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	1223					cell junction assembly (GO:0034329)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|cytoskeletal protein binding (GO:0008092)			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						TCCCTGGCACCTACACCATTA	0.597																																						ENST00000325888.8																			0				biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						c.(3667-3669)acC>acA		filamin C, gamma							67	79	75					7																	128485188		2185	4272	6457	SO:0001819	synonymous_variant	2318				cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding	g.chr7:128485188C>A	AB208865	CCDS43644.1, CCDS47705.1	7q32-q35	2014-09-17	2009-07-23		ENSG00000128591	ENSG00000128591			3756	protein-coding gene	gene with protein product	"actin binding protein 280"	102565	"filamin C, gamma (actin binding protein 280)"	FLN2		7689010, 8088838	Standard	NM_001458		Approved	ABP-280, ABPL	uc003vnz.4	Q14315	OTTHUMG00000023627	ENST00000325888.8:c.3669C>A	7.37:g.128485188C>A						FLNC_ENST00000346177.6_Silent_p.T1223T	p.T1223T	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN			21	3930	+			1223					B2ZZ88|O95303|Q07985|Q9NS12|Q9NYE5|Q9UMR8|Q9Y503	Silent	SNP	ENST00000325888.8	37	c.3669C>A	CCDS43644.1																																																																																				0.597	FLNC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059948.3			7	21	1	0	0.000274275	1	0.000279654	7	21					A	128485188	C	A	128485188	2	1	435	1	0	0	0	0	0	0	0	1	5935	668	24	5		5	FLNC	7	128485188	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	4480	128485188	30653475	3800	24725											
FLNC	2318	broad.mit.edu	37	chr7	128491585	128491585	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aacaaggatggcacctgcacCgtgtcctatctgccgactgc	9	8	10	14	2	1	0	0	0	1	0	2	2	2	1	4	2	4	2	4	2	3	1	rs369449907		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:128491585C>T	ENST00000325888.8	+	35	6006	c.5745C>T	c.(5743-5745)acC>acT	p.T1915T	RP11-309L24.2_ENST00000469965.1_RNA|FLNC_ENST00000346177.6_Silent_p.T1882T	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	1915					cell junction assembly (GO:0034329)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|cytoskeletal protein binding (GO:0008092)			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						GCACCTGCACCGTGTCCTATC	0.597																																						ENST00000325888.8																			0				biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						c.(5743-5745)acC>acT		filamin C, gamma							93	110	104					7																	128491585		2203	4300	6503	SO:0001819	synonymous_variant	2318				cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding	g.chr7:128491585C>T	AB208865	CCDS43644.1, CCDS47705.1	7q32-q35	2014-09-17	2009-07-23		ENSG00000128591	ENSG00000128591			3756	protein-coding gene	gene with protein product	"actin binding protein 280"	102565	"filamin C, gamma (actin binding protein 280)"	FLN2		7689010, 8088838	Standard	NM_001458		Approved	ABP-280, ABPL	uc003vnz.4	Q14315	OTTHUMG00000023627	ENST00000325888.8:c.5745C>T	7.37:g.128491585C>T						RP11-309L24.2_ENST00000469965.1_RNA|FLNC_ENST00000346177.6_Silent_p.T1882T	p.T1915T	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN			35	6006	+			1915					B2ZZ88|O95303|Q07985|Q9NS12|Q9NYE5|Q9UMR8|Q9Y503	Silent	SNP	ENST00000325888.8	37	c.5745C>T	CCDS43644.1																																																																																				0.597	FLNC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059948.3			20	29	0	0	0	1	0	20	29					T	128491585	C	T	128491585	2	4	435	1	0	0	0	0	0	0	0	1	5935	639	23	2		2	FLNC	7	128491585	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	6397	128491585	30647078	3801	24726											
FLNC	2318	broad.mit.edu	37	chr7	128495288	128495288	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccatcaagttcaatgatgagCacatcccagacagccccttt	12	9	6	14	0	2	3	2	2	0	1	3	3	3	3	4	0	2	2	4	0	2	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:128495288C>T	ENST00000325888.8	+	43	7432	c.7171C>T	c.(7171-7173)Cac>Tac	p.H2391Y	RP11-309L24.2_ENST00000469965.1_RNA|FLNC_ENST00000346177.6_Missense_Mutation_p.H2358Y	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	2391					cell junction assembly (GO:0034329)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|cytoskeletal protein binding (GO:0008092)			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						CAATGATGAGCACATCCCAGA	0.622																																						ENST00000325888.8																			0				biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						c.(7171-7173)Cac>Tac		filamin C, gamma							88	98	95					7																	128495288		2192	4299	6491	SO:0001583	missense	2318				cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding	g.chr7:128495288C>T	AB208865	CCDS43644.1, CCDS47705.1	7q32-q35	2014-09-17	2009-07-23		ENSG00000128591	ENSG00000128591			3756	protein-coding gene	gene with protein product	"actin binding protein 280"	102565	"filamin C, gamma (actin binding protein 280)"	FLN2		7689010, 8088838	Standard	NM_001458		Approved	ABP-280, ABPL	uc003vnz.4	Q14315	OTTHUMG00000023627	ENST00000325888.8:c.7171C>T	7.37:g.128495288C>T	ENSP00000327145:p.His2391Tyr					RP11-309L24.2_ENST00000469965.1_RNA|FLNC_ENST00000346177.6_Missense_Mutation_p.H2358Y	p.H2391Y	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN			43	7432	+			2391					B2ZZ88|O95303|Q07985|Q9NS12|Q9NYE5|Q9UMR8|Q9Y503	Missense_Mutation	SNP	ENST00000325888.8	37	c.7171C>T	CCDS43644.1	.	.	.	.	.	.	.	.	.	.	C	24.7	4.556873	0.86231	.	.	ENSG00000128591	ENST00000325888;ENST00000346177	D;D	0.86297	-2.1;-2.1	5.29	5.29	0.74685	Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.95411	0.8510	H	0.95950	3.745	0.54753	D	0.999981	D;D	0.89917	0.998;1.0	D;D	0.75020	0.948;0.985	D	0.96590	0.9437	10	0.87932	D	0	.	14.6438	0.68745	0.1461:0.8539:0.0:0.0	.	2358;2391	Q14315-2;Q14315	.;FLNC_HUMAN	Y	2391;2358	ENSP00000327145:H2391Y;ENSP00000344002:H2358Y	ENSP00000327145:H2391Y	H	+	1	0	FLNC	128282524	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.747000	0.85070	2.470000	0.83445	0.462000	0.41574	CAC		0.622	FLNC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059948.3			38	53	0	0	0	1	0	38	53					T	128495288	C	T	128495288	3	4	435	1	0	0	0	0	1	0	0	0	5935	710	25	3	7341	3	FLNC	7	128495288	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	3703	128495288	30643375	3802	24727											
IRF5	3663	broad.mit.edu	37	chr7	128587975	128587975	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	catccccagtgacaagcagcGcttctacacgaaccagctgc	11	6	8	16	2	1	1	0	1	1	0	2	2	2	1	3	0	6	3	3	0	3	2	rs368255860		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:128587975G>A	ENST00000402030.2	+	7	1004	c.932G>A	c.(931-933)cGc>cAc	p.R311H	IRF5_ENST00000473745.1_Missense_Mutation_p.R311H|IRF5_ENST00000477535.1_Missense_Mutation_p.R225H|IRF5_ENST00000249375.4_Missense_Mutation_p.R311H|IRF5_ENST00000357234.5_Missense_Mutation_p.R327H	NM_001098629.1|NM_001098630.1	NP_001092099.1|NP_001092100.1	Q13568	IRF5_HUMAN	interferon regulatory factor 5	311					cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of apoptotic process (GO:0043065)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to muramyl dipeptide (GO:0032495)|response to peptidoglycan (GO:0032494)|transcription, DNA-templated (GO:0006351)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	regulatory region DNA binding (GO:0000975)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(1)|prostate(1)	15						GACAAGCAGCGCTTCTACACG	0.622																																						ENST00000402030.2																			0				breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(1)|prostate(1)	15						c.(931-933)cGc>cAc		interferon regulatory factor 5		G	HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	58	61	60		932,980,932,674,932	5.1	1	7		60	0,8600		0,0,4300	no	missense,missense,missense,missense,missense	IRF5	NM_001098627.2,NM_001098629.1,NM_001098630.1,NM_001242452.1,NM_032643.3	29,29,29,29,29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	311/499,327/515,311/499,225/413,311/499	128587975	1,13005	2203	4300	6503	SO:0001583	missense	3663				interferon-gamma-mediated signaling pathway|type I interferon-mediated signaling pathway	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:128587975G>A		CCDS5808.1, CCDS43645.1, CCDS56512.1	7q32	2008-07-18			ENSG00000128604	ENSG00000128604			6120	protein-coding gene	gene with protein product		607218					Standard	XM_005250317		Approved		uc003vog.3	Q13568	OTTHUMG00000158410	ENST00000402030.2:c.932G>A	7.37:g.128587975G>A	ENSP00000385352:p.Arg311His					IRF5_ENST00000477535.1_Missense_Mutation_p.R225H|IRF5_ENST00000357234.5_Missense_Mutation_p.R327H|IRF5_ENST00000249375.4_Missense_Mutation_p.R311H|IRF5_ENST00000473745.1_Missense_Mutation_p.R311H	p.R311H	NM_001098629.1|NM_001098630.1	NP_001092099.1|NP_001092100.1	Q13568	IRF5_HUMAN			7	1004	+			311					A4D1J8|A8DUA8|A8DUA9|E7EQ16|E7EW54|Q1A7B4|Q64GA9|Q64GB1|Q64GB2|Q6RCM8|Q9BQF0	Missense_Mutation	SNP	ENST00000402030.2	37	c.932G>A	CCDS5808.1	.	.	.	.	.	.	.	.	.	.	G	24.7	4.563988	0.86335	2.27E-4	0.0	ENSG00000128604	ENST00000357234;ENST00000477535;ENST00000402030;ENST00000249375;ENST00000473745;ENST00000412326	D;D;D;D;D	0.95622	-3.76;-3.76;-3.76;-3.76;-3.76	5.14	5.14	0.70334	SMAD domain-like (1);SMAD/FHA domain (1);Interferon regulatory factor-3 (1);	0.187711	0.38436	N	0.001688	D	0.97294	0.9115	M	0.84326	2.69	0.45762	D	0.998652	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.78314	0.975;0.991;0.989	D	0.97217	0.9875	10	0.72032	D	0.01	-19.0372	10.0059	0.41957	0.0928:0.0:0.9072:0.0	.	225;311;327	E7EW54;Q13568;Q13568-2	.;IRF5_HUMAN;.	H	327;225;311;311;311;301	ENSP00000349770:R327H;ENSP00000419950:R225H;ENSP00000385352:R311H;ENSP00000249375:R311H;ENSP00000419149:R311H	ENSP00000249375:R311H	R	+	2	0	IRF5	128375211	0.152000	0.22762	1.000000	0.80357	0.997000	0.91878	1.916000	0.39986	2.560000	0.86352	0.561000	0.74099	CGC		0.622	IRF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350934.1	NM_001098627		14	26	0	0	0	1	0	14	26					A	128587975	G	A	128587975	3	1	435	1	0	0	0	0	1	0	0	0	7833	1087	38	1	1002	1	IRF5	7	128587975	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	92687	128587975	30550688	3803	24728											
NRF1	4899	broad.mit.edu	37	chr7	129357154	129357154	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcggtggcatcgttggcagaGgccgcagtggcagcttctca	6	8	16	11	3	1	1	1	0	1	1	3	1	1	1	1	5	1	6	1	5	0	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:129357154G>T	ENST00000393232.1	+	9	1278	c.1161G>T	c.(1159-1161)gaG>gaT	p.E387D	NRF1_ENST00000393231.3_Missense_Mutation_p.E387D|NRF1_ENST00000311967.2_Missense_Mutation_p.E387D|NRF1_ENST00000223190.4_Missense_Mutation_p.E387D|NRF1_ENST00000393230.2_Missense_Mutation_p.E387D|NRF1_ENST00000353868.4_Missense_Mutation_p.E321D|NRF1_ENST00000539636.1_Missense_Mutation_p.E226D	NM_005011.3	NP_005002.3	Q16656	NRF1_HUMAN	nuclear respiratory factor 1	387	Required for transcriptional activation.				cellular lipid metabolic process (GO:0044255)|generation of precursor metabolites and energy (GO:0006091)|mitochondrion organization (GO:0007005)|organ regeneration (GO:0031100)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to electrical stimulus (GO:0051602)|response to estradiol (GO:0032355)|response to folic acid (GO:0051593)|response to hypoxia (GO:0001666)|response to lipopolysaccharide (GO:0032496)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			breast(2)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)	24						CGTTGGCAGAGGCCGCAGTGG	0.567																																						ENST00000393232.1																			0				breast(2)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)	24						c.(1159-1161)gaG>gaT		nuclear respiratory factor 1							75	67	70					7																	129357154		2203	4300	6503	SO:0001583	missense	4899				generation of precursor metabolites and energy|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding	g.chr7:129357154G>T	L22454	CCDS5813.2	7q32	2008-07-18			ENSG00000106459	ENSG00000106459			7996	protein-coding gene	gene with protein product	"alpha palindromic-binding protein"	600879				2584221	Standard	NM_005011		Approved	EWG, ALPHA-PAL	uc003voz.3	Q16656	OTTHUMG00000143736	ENST00000393232.1:c.1161G>T	7.37:g.129357154G>T	ENSP00000376924:p.Glu387Asp					NRF1_ENST00000311967.2_Missense_Mutation_p.E387D|NRF1_ENST00000353868.4_Missense_Mutation_p.E321D|NRF1_ENST00000393231.3_Missense_Mutation_p.E387D|NRF1_ENST00000539636.1_Missense_Mutation_p.E226D|NRF1_ENST00000393230.2_Missense_Mutation_p.E387D|NRF1_ENST00000223190.4_Missense_Mutation_p.E387D	p.E387D	NM_005011.3	NP_005002.3	Q16656	NRF1_HUMAN			9	1278	+			387			Required for transcriptional activation.		A8K4C6|B4DDV6|Q15305|Q96AN2	Missense_Mutation	SNP	ENST00000393232.1	37	c.1161G>T	CCDS5813.2	.	.	.	.	.	.	.	.	.	.	G	14.61	2.587373	0.46110	.	.	ENSG00000106459	ENST00000393232;ENST00000353868;ENST00000539636;ENST00000223190;ENST00000311967;ENST00000393230;ENST00000393231	.	.	.	5.53	3.69	0.42338	.	0.089268	0.85682	D	0.000000	T	0.38639	0.1048	N	0.20685	0.6	0.53688	D	0.999977	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.11036	-1.0604	9	0.30078	T	0.28	-3.4406	8.8483	0.35184	0.3005:0.0:0.6995:0.0	.	387;387	Q96AN2;Q16656	.;NRF1_HUMAN	D	387;321;226;387;387;387;387	.	ENSP00000223190:E387D	E	+	3	2	NRF1	129144390	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	0.745000	0.26259	0.685000	0.31468	0.650000	0.86243	GAG		0.567	NRF1-203	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000289813.1	NM_001040110		7	19	1	0	0.00307968	1	0.00311927	7	19					T	129357154	G	T	129357154	3	4	435	1	0	0	0	0	1	0	0	0	10646	991	35	5	1191	5	NRF1	7	129357154	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	769179	129357154	29781509	3804	24729											
KLHDC10	23008	broad.mit.edu	37	chr7	129769308	129769308	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgtgggggctataatggagaGgtgatcctgggagatatctg	9	11	17	4	0	1	3	0	1	1	2	2	5	2	3	1	5	0	1	1	5	3	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:129769308G>T	ENST00000335420.5	+	9	1145	c.1011G>T	c.(1009-1011)gaG>gaT	p.E337D		NM_014997.3	NP_055812.1	Q6PID8	KLD10_HUMAN	kelch domain containing 10	337						cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|liver(2)|lung(10)|prostate(1)	17						ATAATGGAGAGGTGATCCTGG	0.433																																						ENST00000335420.5																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|liver(2)|lung(10)|prostate(1)	17						c.(1009-1011)gaG>gaT		kelch domain containing 10							138	133	135					7																	129769308		2203	4300	6503	SO:0001583	missense	23008							g.chr7:129769308G>T		CCDS5815.1	7q32.2	2008-08-20			ENSG00000128607	ENSG00000128607			22194	protein-coding gene	gene with protein product	"scruin like at the midline homolog (Drosophila)"	615152					Standard	NM_014997		Approved	KIAA0265, slim	uc003vpj.2	Q6PID8	OTTHUMG00000157654	ENST00000335420.5:c.1011G>T	7.37:g.129769308G>T	ENSP00000334140:p.Glu337Asp						p.E337D	NM_014997.3	NP_055812.1	Q6PID8	KLD10_HUMAN			9	1145	+			337					Q86Y99|Q92554	Missense_Mutation	SNP	ENST00000335420.5	37	c.1011G>T	CCDS5815.1	.	.	.	.	.	.	.	.	.	.	G	11.63	1.695079	0.30052	.	.	ENSG00000128607	ENST00000335420	T	0.60920	0.15	5.43	1.43	0.22495	Galactose oxidase, beta-propeller (1);	0.094686	0.64402	D	0.000001	T	0.42404	0.1201	L	0.31065	0.9	0.46149	D	0.998894	P;B;D	0.53619	0.662;0.255;0.961	B;B;P	0.45753	0.301;0.144;0.492	T	0.23332	-1.0191	10	0.11794	T	0.64	-21.1701	9.682	0.40076	0.5785:0.0:0.4215:0.0	.	186;194;337	Q96G43;Q6PID8-2;Q6PID8	.;.;KLD10_HUMAN	D	337	ENSP00000334140:E337D	ENSP00000334140:E337D	E	+	3	2	KLHDC10	129556544	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	2.017000	0.40981	0.055000	0.16094	-0.218000	0.12543	GAG		0.433	KLHDC10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349347.2			38	66	1	0	2.2871e-25	1	2.55332e-25	38	66					T	129769308	G	T	129769308	3	4	435	1	0	0	0	0	1	0	0	0	8355	991	35	5	1045	5	KLHDC10	7	129769308	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	412154	129769308	29369355	3805	24730											
CPA2	1358	broad.mit.edu	37	chr7	129919385	129919385	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gttgaagtgaaatccatagtGgacttcatcaagagtcatgg	13	11	11	6	0	3	3	3	2	0	1	4	4	4	4	1	2	0	1	1	2	4	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:129919385G>T	ENST00000222481.4	+	9	925	c.870G>T	c.(868-870)gtG>gtT	p.V290V		NM_001869.2	NP_001860.2	P48052	CBPA2_HUMAN	carboxypeptidase A2 (pancreatic)	290					protein catabolic process in the vacuole (GO:0007039)	extracellular region (GO:0005576)	carboxypeptidase activity (GO:0004180)|metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	Melanoma(18;0.0435)					AATCCATAGTGGACTTCATCA	0.493																																						ENST00000222481.4																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						c.(868-870)gtG>gtT		carboxypeptidase A2 (pancreatic)							119	109	112					7																	129919385		2203	4300	6503	SO:0001819	synonymous_variant	1358				proteolysis|vacuolar protein catabolic process	extracellular region|vacuole	metallocarboxypeptidase activity|zinc ion binding	g.chr7:129919385G>T	U19977	CCDS5817.2	7q32	2012-02-10			ENSG00000158516	ENSG00000158516	3.4.17.15		2297	protein-coding gene	gene with protein product		600688				7896805, 10860668	Standard	NM_001869		Approved		uc003vpq.3	P48052	OTTHUMG00000157019	ENST00000222481.4:c.870G>T	7.37:g.129919385G>T							p.V290V	NM_001869.2	NP_001860.2	P48052	CBPA2_HUMAN			9	925	+	Melanoma(18;0.0435)		290					A4D1M4|C9JIK1|Q53XS1|Q96A12|Q96QN3|Q9UCF1	Silent	SNP	ENST00000222481.4	37	c.870G>T	CCDS5817.2																																																																																				0.493	CPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347124.2	NM_001869		30	51	1	0	3.99451e-17	1	4.39387e-17	30	51					T	129919385	G	T	129919385	2	4	435	1	0	0	0	0	0	0	0	1	3790	1335	47	5		5	CPA2	7	129919385	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	150077	129919385	29219278	3806	24731											
CPA2	1358	broad.mit.edu	37	chr7	129929484	129929484	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgaactgagagacacagggcGctacggcttcctcttgccag	9	8	12	12	2	1	3	0	2	1	1	2	4	2	3	2	2	3	2	2	2	2	3	rs146602328	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:129929484G>A	ENST00000222481.4	+	11	1212	c.1157G>A	c.(1156-1158)cGc>cAc	p.R386H		NM_001869.2	NP_001860.2	P48052	CBPA2_HUMAN	carboxypeptidase A2 (pancreatic)	386					protein catabolic process in the vacuole (GO:0007039)	extracellular region (GO:0005576)	carboxypeptidase activity (GO:0004180)|metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	Melanoma(18;0.0435)					GACACAGGGCGCTACGGCTTC	0.542													G|||	6	0.00119808	0.0045	0	5008	,	,		18328	0		0	False		,,,				2504	0					ENST00000222481.4																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						c.(1156-1158)cGc>cAc		carboxypeptidase A2 (pancreatic)		G	HIS/ARG	27,4379	33.5+/-64.1	0,27,2176	136	119	124		1157	0.1	0	7	dbSNP_134	124	2,8598	2.2+/-6.3	0,2,4298	yes	missense	CPA2	NM_001869.2	29	0,29,6474	AA,AG,GG		0.0233,0.6128,0.223	benign	386/420	129929484	29,12977	2203	4300	6503	SO:0001583	missense	1358				proteolysis|vacuolar protein catabolic process	extracellular region|vacuole	metallocarboxypeptidase activity|zinc ion binding	g.chr7:129929484G>A	U19977	CCDS5817.2	7q32	2012-02-10			ENSG00000158516	ENSG00000158516	3.4.17.15		2297	protein-coding gene	gene with protein product		600688				7896805, 10860668	Standard	NM_001869		Approved		uc003vpq.3	P48052	OTTHUMG00000157019	ENST00000222481.4:c.1157G>A	7.37:g.129929484G>A	ENSP00000222481:p.Arg386His						p.R386H	NM_001869.2	NP_001860.2	P48052	CBPA2_HUMAN			11	1212	+	Melanoma(18;0.0435)		386					A4D1M4|C9JIK1|Q53XS1|Q96A12|Q96QN3|Q9UCF1	Missense_Mutation	SNP	ENST00000222481.4	37	c.1157G>A	CCDS5817.2	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	G	11.33	1.606654	0.28623	0.006128	2.33E-4	ENSG00000158516	ENST00000222481	T	0.11063	2.81	5.13	0.0599	0.14334	Peptidase M14, carboxypeptidase A (2);	0.952399	0.08703	N	0.906084	T	0.07098	0.0180	L	0.53561	1.675	0.31627	N	0.649525	B	0.12630	0.006	B	0.11329	0.006	T	0.28870	-1.0030	10	0.32370	T	0.25	.	4.8562	0.13561	0.2129:0.0:0.5308:0.2563	.	386	P48052	CBPA2_HUMAN	H	386	ENSP00000222481:R386H	ENSP00000222481:R386H	R	+	2	0	CPA2	129716720	0.002000	0.14202	0.003000	0.11579	0.614000	0.37383	0.649000	0.24843	-0.304000	0.08843	0.561000	0.74099	CGC		0.542	CPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347124.2	NM_001869		17	38	0	0	0	1	0	17	38					A	129929484	G	A	129929484	3	1	435	1	0	0	0	0	1	0	0	0	3790	1087	38	1	1199	1	CPA2	7	129929484	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	10099	129929484	29209179	3807	24732											
COPG2	26958	broad.mit.edu	37	chr7	130297071	130297071	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gcttcttgggcttcattgatCcagcgcttaaccacatcata	9	13	7	12	1	3	1	2	1	1	0	4	1	4	1	2	1	2	3	2	1	2	6			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:130297071C>T	ENST00000445977.2	-	8	620	c.531G>A	c.(529-531)tgG>tgA	p.W177*				Q9UBF2	COPG2_HUMAN	coatomer protein complex, subunit gamma 2	177					intra-Golgi vesicle-mediated transport (GO:0006891)|intracellular protein transport (GO:0006886)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	COPI vesicle coat (GO:0030126)	structural molecule activity (GO:0005198)			large_intestine(1)	1	Melanoma(18;0.0435)					CTTCATTGATCCAGCGCTTAA	0.353																																						ENST00000445977.2																			0				large_intestine(1)	1						c.(529-531)tgG>tgA		coatomer protein complex, subunit gamma 2							151	131	137					7																	130297071		1896	4124	6020	SO:0001587	stop_gained	26958				intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat	protein binding|structural molecule activity	g.chr7:130297071C>T	AF157833	CCDS75662.1	7q32	2010-06-22			ENSG00000158623	ENSG00000158623			2237	protein-coding gene	gene with protein product	"coat protein, nonclathrin, gamma-2-cop"	604355				10556286, 10995575	Standard	NM_001290033		Approved	2-COP	uc003vqh.1	Q9UBF2	OTTHUMG00000155364	ENST00000445977.2:c.531G>A	7.37:g.130297071C>T	ENSP00000393912:p.Trp177*						p.W177*			Q9UBF2	COPG2_HUMAN			8	620	-	Melanoma(18;0.0435)		177					A6NH74|Q2NLA0|Q54AC3|Q8WVW8	Nonsense_Mutation	SNP	ENST00000445977.2	37	c.531G>A		.	.	.	.	.	.	.	.	.	.	C	31	5.064402	0.93898	.	.	ENSG00000158623	ENST00000445977;ENST00000330992	.	.	.	5.58	5.58	0.84498	.	0.000000	0.85682	U	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	18.1349	0.89616	0.0:1.0:0.0:0.0	.	.	.	.	X	177	.	ENSP00000331218:W177X	W	-	3	0	COPG2	129947608	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.553000	0.82203	2.634000	0.89283	0.561000	0.74099	TGG		0.353	COPG2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_012133		8	30	0	0	0	1	0	8	30					T	130297071	C	T	130297071	4	4	435	1	0	0	0	0	0	1	0	0	3732	856	30	3	699	3	COPG2	7	130297071	Nonsense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	367587	130297071	28841592	3808	24733											
PLXNA4	91584	broad.mit.edu	37	chr7	131866933	131866933	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggtgggtcccccatacggCgatgggtgtgtttccactga	6	10	14	11	2	0	1	0	1	0	0	2	2	2	1	3	4	1	1	3	4	1	2	rs201451359		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:131866933C>T	ENST00000359827.3	-	17	4137	c.3175G>A	c.(3175-3177)Gcc>Acc	p.A1059T	PLXNA4_ENST00000321063.4_Missense_Mutation_p.A1059T			Q9HCM2	PLXA4_HUMAN	plexin A4	1059	IPT/TIG 3.				anterior commissure morphogenesis (GO:0021960)|axon guidance (GO:0007411)|chemorepulsion of branchiomotor axon (GO:0021793)|facial nerve structural organization (GO:0021612)|glossopharyngeal nerve morphogenesis (GO:0021615)|postganglionic parasympathetic nervous system development (GO:0021784)|regulation of axon extension involved in axon guidance (GO:0048841)|regulation of negative chemotaxis (GO:0050923)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|sympathetic nervous system development (GO:0048485)|trigeminal nerve structural organization (GO:0021637)|vagus nerve morphogenesis (GO:0021644)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)	p.A1059T(4)		NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						CCCCATACGGCGATGGGTGTG	0.507																																						ENST00000359827.3																			4	Substitution - Missense(4)	p.A1059T(4)	large_intestine(2)|lung(2)	NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						c.(3175-3177)Gcc>Acc		plexin A4		C	THR/ALA	0,3896		0,0,1948	121	124	123		3175	4.6	0.9	7		123	2,8296		0,2,4147	yes	missense	PLXNA4	NM_020911.1	58	0,2,6095	TT,TC,CC		0.0241,0.0,0.0164	benign	1059/1895	131866933	2,12192	1948	4149	6097	SO:0001583	missense	91584					integral to membrane|intracellular|plasma membrane		g.chr7:131866933C>T	AB046770, AK123428	CCDS5826.1, CCDS43646.1, CCDS43647.1	7q32.3	2007-09-26	2007-09-26	2007-09-26	ENSG00000221866	ENSG00000221866		"Plexins"	9102	protein-coding gene	gene with protein product		604280	"plexin A4, A", "plexin A4, B"	PLXNA4A, PLXNA4B			Standard	NM_181775		Approved	KIAA1550, DKFZp434G0625PRO34003, FAYV2820	uc003vra.4	Q9HCM2	OTTHUMG00000155108	ENST00000359827.3:c.3175G>A	7.37:g.131866933C>T	ENSP00000352882:p.Ala1059Thr					PLXNA4_ENST00000321063.4_Missense_Mutation_p.A1059T	p.A1059T			Q9HCM2	PLXA4_HUMAN			17	4137	-			1059			IPT/TIG 3.		A4D1N6|E9PAM2|Q6UWC6|Q6ZW89|Q8N969|Q8ND00|Q8NEN3|Q9NTD4	Missense_Mutation	SNP	ENST00000359827.3	37	c.3175G>A	CCDS43646.1	.	.	.	.	.	.	.	.	.	.	C	0.394	-0.922126	0.02396	0.0	2.41E-4	ENSG00000221866	ENST00000321063;ENST00000359827	T;T	0.66638	-0.22;-0.22	5.43	4.56	0.56223	Cell surface receptor IPT/TIG (2);Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.290065	0.38272	N	0.001757	T	0.21145	0.0509	N	0.00151	-1.98	0.32288	N	0.566674	B	0.02656	0.0	B	0.04013	0.001	T	0.36311	-0.9753	10	0.02654	T	1	.	6.4352	0.21819	0.1474:0.7029:0.0:0.1497	.	1059	Q9HCM2	PLXA4_HUMAN	T	1059	ENSP00000323194:A1059T;ENSP00000352882:A1059T	ENSP00000323194:A1059T	A	-	1	0	PLXNA4	131517473	0.079000	0.21365	0.920000	0.36463	0.179000	0.23085	0.642000	0.24735	1.304000	0.44892	0.561000	0.74099	GCC		0.507	PLXNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338422.2	NM_181775		12	26	0	0	0	1	0	12	26					T	131866933	C	T	131866933	3	4	435	1	0	0	0	0	1	0	0	0	12122	768	27	1	2573	1	PLXNA4	7	131866933	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	1569862	131866933	27271730	3809	24734											
EXOC4	60412	broad.mit.edu	37	chr7	133580444	133580444	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caattcctcaacatggtgtgCgtgaagctccaggagtacaa	12	9	10	10	1	1	1	1	1	0	0	3	2	3	2	2	2	4	2	2	2	5	2	rs34995232		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:133580444C>T	ENST00000253861.4	+	12	1856	c.1827C>T	c.(1825-1827)tgC>tgT	p.C609C	EXOC4_ENST00000539845.1_Silent_p.C508C|EXOC4_ENST00000460346.1_3'UTR|EXOC4_ENST00000545148.1_Silent_p.C219C	NM_021807.3	NP_068579.3	Q96A65	EXOC4_HUMAN	exocyst complex component 4	609					cellular protein metabolic process (GO:0044267)|membrane organization (GO:0061024)|protein transport (GO:0015031)|vesicle docking involved in exocytosis (GO:0006904)	cytoplasm (GO:0005737)|exocyst (GO:0000145)|growth cone membrane (GO:0032584)|membrane (GO:0016020)|myelin sheath abaxonal region (GO:0035748)|plasma membrane (GO:0005886)	protein N-terminus binding (GO:0047485)			NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(16)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	50		Esophageal squamous(399;0.129)				ACATGGTGTGCGTGAAGCTCC	0.473																																						ENST00000253861.4																			0				NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(16)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	50						c.(1825-1827)tgC>tgT		exocyst complex component 4							178	147	157					7																	133580444		2203	4300	6503	SO:0001819	synonymous_variant	60412				vesicle docking involved in exocytosis	exocyst	protein N-terminus binding	g.chr7:133580444C>T	AL831989	CCDS5829.1, CCDS43648.1	7q31	2013-01-22	2005-11-01	2005-11-01	ENSG00000131558	ENSG00000131558			30389	protein-coding gene	gene with protein product		608185	"SEC8-like 1 (S. cerevisiae)"	SEC8L1		11214970, 12687004	Standard	XM_005250523		Approved	KIAA1699, MGC27170, SEC8, Sec8p	uc003vrk.3	Q96A65	OTTHUMG00000155259	ENST00000253861.4:c.1827C>T	7.37:g.133580444C>T						EXOC4_ENST00000460346.1_3'UTR|EXOC4_ENST00000545148.1_Silent_p.C219C|EXOC4_ENST00000539845.1_Silent_p.C508C	p.C609C	NM_021807.3	NP_068579.3	Q96A65	EXOC4_HUMAN			12	1856	+		Esophageal squamous(399;0.129)	609					E9PED2|Q541U8|Q9C0G4|Q9H9K0|Q9P102	Silent	SNP	ENST00000253861.4	37	c.1827C>T	CCDS5829.1																																																																																				0.473	EXOC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339182.1	NM_021807		9	52	0	0	0	1	0	9	52					T	133580444	C	T	133580444	2	4	435	1	0	0	0	0	0	0	0	1	5306	776	27	1		1	EXOC4	7	133580444	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	1713511	133580444	25558219	3810	24735											
LRGUK	136332	broad.mit.edu	37	chr7	133932327	133932327	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaaagagattctatacacaGacagcacgaggcagcccggc	14	4	12	11	2	1	2	0	0	1	2	1	5	1	3	1	3	3	2	1	3	3	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:133932327G>T	ENST00000285928.2	+	17	2072	c.2003G>T	c.(2002-2004)aGa>aTa	p.R668I		NM_144648.1	NP_653249.1	Q96M69	LRGUK_HUMAN	leucine-rich repeats and guanylate kinase domain containing	668						cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|kinase activity (GO:0016301)			breast(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	49						TCTATACACAGACAGCACGAG	0.373																																						ENST00000285928.2																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	49						c.(2002-2004)aGa>aTa		leucine-rich repeats and guanylate kinase domain containing							83	83	83					7																	133932327		2203	4300	6503	SO:0001583	missense	136332						ATP binding|kinase activity	g.chr7:133932327G>T	AK057348	CCDS5830.1	7q33	2006-10-27			ENSG00000155530	ENSG00000155530			21964	protein-coding gene	gene with protein product							Standard	NM_144648		Approved	FLJ32786	uc003vrm.1	Q96M69	OTTHUMG00000155320	ENST00000285928.2:c.2003G>T	7.37:g.133932327G>T	ENSP00000285928:p.Arg668Ile						p.R668I	NM_144648.1	NP_653249.1	Q96M69	LRGUK_HUMAN			17	2072	+			668					Q2M3I1	Missense_Mutation	SNP	ENST00000285928.2	37	c.2003G>T	CCDS5830.1	.	.	.	.	.	.	.	.	.	.	G	14.82	2.650751	0.47362	.	.	ENSG00000155530	ENST00000285928	T	0.51574	0.7	5.83	3.72	0.42706	.	0.118458	0.56097	D	0.000033	T	0.64294	0.2585	M	0.71581	2.175	0.50632	D	0.999888	D	0.89917	1.0	D	0.73380	0.98	T	0.67906	-0.5549	10	0.87932	D	0	-18.8843	10.8126	0.46555	0.1723:0.0:0.8277:0.0	.	668	Q96M69	LRGUK_HUMAN	I	668	ENSP00000285928:R668I	ENSP00000285928:R668I	R	+	2	0	LRGUK	133582867	1.000000	0.71417	0.981000	0.43875	0.193000	0.23685	2.364000	0.44187	1.476000	0.48215	0.655000	0.94253	AGA		0.373	LRGUK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339442.1	NM_144648		7	17	1	0	3.86212e-05	1	3.97146e-05	7	17					T	133932327	G	T	133932327	3	4	435	1	0	0	0	0	1	0	0	0	8943	942	33	5	2069	5	LRGUK	7	133932327	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	351883	133932327	25206336	3811	24736											
WDR91	29062	broad.mit.edu	37	chr7	134889022	134889022	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggcaggacttgtgcttacctGaccaccgaaggactctttct	8	11	10	12	1	2	1	0	1	2	0	2	4	2	3	3	3	2	2	3	3	2	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:134889022G>A	ENST00000354475.4	-	6	920	c.889C>T	c.(889-891)Cag>Tag	p.Q297*	WDR91_ENST00000485942.1_5'UTR|AC009542.2_ENST00000595902.1_RNA|WDR91_ENST00000344400.5_Nonsense_Mutation_p.Q297*|WDR91_ENST00000423565.1_Nonsense_Mutation_p.Q262*	NM_014149.3	NP_054868.3	A4D1P6	WDR91_HUMAN	WD repeat domain 91	297										breast(3)|endometrium(2)|kidney(2)|large_intestine(12)|lung(14)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	40						GTGCTTACCTGACCACCGAAG	0.577																																						ENST00000354475.4																			0				breast(3)|endometrium(2)|kidney(2)|large_intestine(12)|lung(14)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	40						c.(889-891)Cag>Tag		WD repeat domain 91							49	49	49					7																	134889022		2203	4300	6503	SO:0001587	stop_gained	29062							g.chr7:134889022G>A	AF161534	CCDS34758.1	7q33	2013-01-09			ENSG00000105875	ENSG00000105875		"WD repeat domain containing"	24997	protein-coding gene	gene with protein product						11042152, 11230166	Standard	NM_014149		Approved	HSPC049	uc003vsp.2	A4D1P6	OTTHUMG00000155414	ENST00000354475.4:c.889C>T	7.37:g.134889022G>A	ENSP00000346466:p.Gln297*					WDR91_ENST00000423565.1_Nonsense_Mutation_p.Q262*|WDR91_ENST00000485942.1_5'UTR|WDR91_ENST00000344400.5_Nonsense_Mutation_p.Q297*	p.Q297*	NM_014149.3	NP_054868.3	A4D1P6	WDR91_HUMAN			6	920	-			297					A6NK54|C9JMI4|Q6FI65|Q6MZQ1|Q6P4I1|Q96AE5|Q96G63|Q9H062|Q9H9B6|Q9NVG7|Q9NZY6	Nonsense_Mutation	SNP	ENST00000354475.4	37	c.889C>T	CCDS34758.1	.	.	.	.	.	.	.	.	.	.	G	24.9	4.583254	0.86748	.	.	ENSG00000105875	ENST00000344400;ENST00000354475;ENST00000423565	.	.	.	5.4	5.4	0.78164	.	0.158059	0.64402	D	0.000019	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06365	T	0.9	-8.5019	16.9779	0.86319	0.0:0.0:1.0:0.0	.	.	.	.	X	297;297;262	.	ENSP00000340877:Q297X	Q	-	1	0	WDR91	134539562	1.000000	0.71417	0.941000	0.38009	0.162000	0.22319	5.980000	0.70516	2.548000	0.85928	0.655000	0.94253	CAG		0.577	WDR91-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340019.1	NM_014149		10	16	0	0	0	1	0	10	16					A	134889022	G	A	134889022	4	1	435	1	0	0	0	0	0	1	0	0	17335	1299	45	3	1394	3	WDR91	7	134889022	Nonsense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	956695	134889022	24249641	3812	24737											
NUP205	23165	broad.mit.edu	37	chr7	135282805	135282805	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ccattgactcgggccttttgCcagcttattagtactctggt	6	15	9	11	1	1	1	0	1	1	0	2	1	1	1	3	2	3	2	3	2	3	6			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:135282805C>T	ENST00000285968.6	+	15	2150	c.2124C>T	c.(2122-2124)tgC>tgT	p.C708C	NUP205_ENST00000440390.2_3'UTR	NM_015135.2	NP_055950	Q92621	NU205_HUMAN	nucleoporin 205kDa	708					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|nucleocytoplasmic transport (GO:0006913)|protein import into nucleus, docking (GO:0000059)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)	structural constituent of nuclear pore (GO:0017056)			breast(4)|central_nervous_system(2)|endometrium(9)|kidney(7)|large_intestine(17)|liver(4)|lung(36)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	93						GGGCCTTTTGCCAGCTTATTA	0.423																																						ENST00000285968.6																			0				breast(4)|central_nervous_system(2)|endometrium(9)|kidney(7)|large_intestine(17)|liver(4)|lung(36)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	93						c.(2122-2124)tgC>tgT		nucleoporin 205kDa							192	208	202					7																	135282805		2203	4300	6503	SO:0001819	synonymous_variant	23165				carbohydrate metabolic process|glucose transport|mRNA transport|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding	g.chr7:135282805C>T	D86978	CCDS34759.1	7q31.32	2007-03-26	2004-01-06	2004-01-07	ENSG00000155561	ENSG00000155561			18658	protein-coding gene	gene with protein product		614352	"chromosome 7 open reading frame 14"	C7orf14		9039502, 9348540	Standard	NM_015135		Approved	KIAA0225	uc003vsw.3	Q92621	OTTHUMG00000155497	ENST00000285968.6:c.2124C>T	7.37:g.135282805C>T						NUP205_ENST00000440390.2_3'UTR	p.C708C	NM_015135.2	NP_055950.1	Q92621	NU205_HUMAN			15	2150	+			708					A6H8X3|Q86YC1	Silent	SNP	ENST00000285968.6	37	c.2124C>T	CCDS34759.1																																																																																				0.423	NUP205-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340358.1			103	122	0	0	0	1	0	103	122					T	135282805	C	T	135282805	2	4	435	1	0	0	0	0	0	0	0	1	10759	747	26	3		3	NUP205	7	135282805	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	393783	135282805	23855858	3813	24738											
NUP205	23165	broad.mit.edu	37	chr7	135312833	135312833	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tcatcctcacatctagtatgGcccagcacttgcaggcagca	10	9	8	14	0	3	0	2	0	1	0	4	0	4	0	2	2	3	5	2	2	2	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:135312833G>A	ENST00000285968.6	+	34	4932	c.4906G>A	c.(4906-4908)Gcc>Acc	p.A1636T		NM_015135.2	NP_055950	Q92621	NU205_HUMAN	nucleoporin 205kDa	1636					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|nucleocytoplasmic transport (GO:0006913)|protein import into nucleus, docking (GO:0000059)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)	structural constituent of nuclear pore (GO:0017056)			breast(4)|central_nervous_system(2)|endometrium(9)|kidney(7)|large_intestine(17)|liver(4)|lung(36)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	93						ATCTAGTATGGCCCAGCACTT	0.502																																						ENST00000285968.6																			0				breast(4)|central_nervous_system(2)|endometrium(9)|kidney(7)|large_intestine(17)|liver(4)|lung(36)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	93						c.(4906-4908)Gcc>Acc		nucleoporin 205kDa							152	142	145					7																	135312833		2203	4300	6503	SO:0001583	missense	23165				carbohydrate metabolic process|glucose transport|mRNA transport|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding	g.chr7:135312833G>A	D86978	CCDS34759.1	7q31.32	2007-03-26	2004-01-06	2004-01-07	ENSG00000155561	ENSG00000155561			18658	protein-coding gene	gene with protein product		614352	"chromosome 7 open reading frame 14"	C7orf14		9039502, 9348540	Standard	NM_015135		Approved	KIAA0225	uc003vsw.3	Q92621	OTTHUMG00000155497	ENST00000285968.6:c.4906G>A	7.37:g.135312833G>A	ENSP00000285968:p.Ala1636Thr						p.A1636T	NM_015135.2	NP_055950.1	Q92621	NU205_HUMAN			34	4932	+			1636					A6H8X3|Q86YC1	Missense_Mutation	SNP	ENST00000285968.6	37	c.4906G>A	CCDS34759.1	.	.	.	.	.	.	.	.	.	.	G	10.90	1.481259	0.26598	.	.	ENSG00000155561	ENST00000285968	T	0.27890	1.64	5.84	4.94	0.65067	.	0.200452	0.52532	D	0.000061	T	0.22322	0.0538	N	0.24115	0.695	0.80722	D	1	B	0.15141	0.012	B	0.21917	0.037	T	0.04360	-1.0957	10	0.12766	T	0.61	-2.5042	15.9052	0.79423	0.0:0.0:0.8598:0.1402	.	1636	Q92621	NU205_HUMAN	T	1636	ENSP00000285968:A1636T	ENSP00000285968:A1636T	A	+	1	0	NUP205	134963373	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.797000	0.55514	1.411000	0.46957	0.650000	0.86243	GCC		0.502	NUP205-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340358.1			40	48	0	0	0	1	0	40	48					A	135312833	G	A	135312833	3	1	435	1	0	0	0	0	1	0	0	0	10759	1203	42	3	5040	3	NUP205	7	135312833	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	30028	135312833	23825830	3814	24739											
SLC13A4	26266	broad.mit.edu	37	chr7	135392945	135392945	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttctccacggcagccgccacGcagatgacccccaccagcag	9	4	9	19	3	1	2	0	1	1	1	2	2	1	2	6	1	2	3	6	1	0	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:135392945G>A	ENST00000354042.4	-	3	971	c.282C>T	c.(280-282)tgC>tgT	p.C94C		NM_012450.2	NP_036582.2	Q9UKG4	S13A4_HUMAN	solute carrier family 13 (sodium/sulfate symporter), member 4	94					sodium ion transmembrane transport (GO:0035725)|sulfate transport (GO:0008272)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	sodium:sulfate symporter activity (GO:0015382)			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(7)|skin(1)|upper_aerodigestive_tract(2)	24						CAGCCGCCACGCAGATGACCC	0.607																																						ENST00000354042.4																			0				breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(7)|skin(1)|upper_aerodigestive_tract(2)	24						c.(280-282)tgC>tgT		solute carrier family 13 (sodium/sulfate symporter), member 4							96	98	97					7																	135392945		2203	4300	6503	SO:0001819	synonymous_variant	26266					integral to plasma membrane	sodium:sulfate symporter activity	g.chr7:135392945G>A	AF169301	CCDS5840.1	7q33	2013-07-18	2013-07-18		ENSG00000164707	ENSG00000164707		"Solute carriers"	15827	protein-coding gene	gene with protein product	"sulphate transporter 1"	604309	"solute carrier family 13 (sodium/sulphate symporters), member 4"			10535998	Standard	NM_012450		Approved	SUT-1, SUT1	uc003vta.3	Q9UKG4	OTTHUMG00000155539	ENST00000354042.4:c.282C>T	7.37:g.135392945G>A						AC091736.10_ENST00000378428.3_RNA	p.C94C	NM_012450.2	NP_036582.2	Q9UKG4	S13A4_HUMAN			3	971	-			94					A4D1Q4|Q8N631	Silent	SNP	ENST00000354042.4	37	c.282C>T	CCDS5840.1																																																																																				0.607	SLC13A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340558.1	NM_012450		45	61	0	0	0	1	0	45	61					A	135392945	G	A	135392945	2	1	435	1	0	0	0	0	0	0	0	1	14394	1079	38	1		1	SLC13A4	7	135392945	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	80112	135392945	23745718	3815	24740											
CHRM2	1129	broad.mit.edu	37	chr7	136700842	136700842	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aatgtcatggtgctcattaaCaccttttgtgcaccttgcat	9	15	7	10	0	2	0	2	0	0	0	2	0	2	0	2	1	4	3	2	1	2	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:136700842C>T	ENST00000445907.2	+	3	1758	c.1230C>T	c.(1228-1230)aaC>aaT	p.N410N	CHRM2_ENST00000401861.1_Silent_p.N410N|hsa-mir-490_ENST00000593789.1_RNA|hsa-mir-490_ENST00000425981.2_RNA|hsa-mir-490_ENST00000586239.1_RNA|hsa-mir-490_ENST00000597642.1_RNA|CHRM2_ENST00000402486.3_Silent_p.N410N|CHRM2_ENST00000453373.1_Silent_p.N410N|CHRM2_ENST00000397608.3_Silent_p.N410N|hsa-mir-490_ENST00000439694.1_RNA|CHRM2_ENST00000320658.5_Silent_p.N410N|hsa-mir-490_ENST00000592183.1_RNA|hsa-mir-490_ENST00000598184.1_RNA	NM_001006627.1|NM_001006629.1	NP_001006628.1|NP_001006630.1	P08172	ACM2_HUMAN	cholinergic receptor, muscarinic 2	410					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|nervous system development (GO:0007399)|phospholipase C-activating G-protein coupled acetylcholine receptor signaling pathway (GO:0007207)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|regulation of heart contraction (GO:0008016)|response to virus (GO:0009615)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	G-protein coupled acetylcholine receptor activity (GO:0016907)			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(13)|liver(1)|lung(29)|ovary(4)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	68					Aclidinium(DB08897)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Anisotropine Methylbromide(DB00517)|Aripiprazole(DB01238)|Atropine(DB00572)|Bethanechol(DB01019)|Brompheniramine(DB00835)|Carbachol(DB00411)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Cocaine(DB00907)|Cryptenamine(DB00785)|Cyproheptadine(DB00434)|Darifenacin(DB00496)|Desipramine(DB01151)|Dicyclomine(DB00804)|Dimetindene(DB08801)|Diphenidol(DB01231)|Disopyramide(DB00280)|Doxacurium chloride(DB01135)|Doxepin(DB01142)|Ethopropazine(DB00392)|Fesoterodine(DB06702)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Glycopyrrolate(DB00986)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Imipramine(DB00458)|Ipratropium bromide(DB00332)|Ketamine(DB01221)|Loxapine(DB00408)|Maprotiline(DB00934)|Methotrimeprazine(DB01403)|Methylscopolamine bromide(DB00462)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Nicardipine(DB00622)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pancuronium(DB01337)|Paroxetine(DB00715)|Pethidine(DB00454)|Pilocarpine(DB01085)|Pipecuronium(DB01338)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Rocuronium(DB00728)|Scopolamine(DB00747)|Solifenacin(DB01591)|Succinylcholine(DB00202)|Tiotropium(DB01409)|Tolterodine(DB01036)|Triflupromazine(DB00508)|Trihexyphenidyl(DB00376)|Trimipramine(DB00726)|Tropicamide(DB00809)|Ziprasidone(DB00246)	TGCTCATTAACACCTTTTGTG	0.473																																						ENST00000445907.2																			0				central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(13)|liver(1)|lung(29)|ovary(4)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	68						c.(1228-1230)aaC>aaT		cholinergic receptor, muscarinic 2	Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Carbachol(DB00411)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Desipramine(DB01151)|Diphenidol(DB01231)|Doxacurium chloride(DB01135)|Doxacurium(DB01334)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Ipratropium(DB00332)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pilocarpine(DB01085)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Rocuronium(DB00728)|Thiethylperazine(DB00372)|Tolterodine(DB01036)|Tridihexethyl(DB00505)|Triflupromazine(DB00508)						255	207	223					7																	136700842		2203	4300	6503	SO:0001819	synonymous_variant	1129				activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|nervous system development|regulation of heart contraction|response to virus	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|protein binding	g.chr7:136700842C>T		CCDS5843.1	7q35-q36	2014-09-17			ENSG00000181072	ENSG00000181072		"Cholinergic receptors", "GPCR / Class A : Cholinergic receptors, muscarinic"	1951	protein-coding gene	gene with protein product	"acetylcholine receptor, muscarinic 2"	118493					Standard	NM_000739		Approved		uc003vtl.1	P08172	OTTHUMG00000155658	ENST00000445907.2:c.1230C>T	7.37:g.136700842C>T						AC009264.1_ENST00000586239.1_RNA|AC009264.1_ENST00000597642.1_RNA|AC009264.1_ENST00000592183.1_RNA|AC009264.1_ENST00000425981.2_RNA|CHRM2_ENST00000402486.3_Silent_p.N410N|AC009264.1_ENST00000598184.1_RNA|CHRM2_ENST00000397608.3_Silent_p.N410N|CHRM2_ENST00000401861.1_Silent_p.N410N|AC009264.1_ENST00000593789.1_RNA|AC009264.1_ENST00000439694.1_RNA|CHRM2_ENST00000320658.5_Silent_p.N410N|CHRM2_ENST00000453373.1_Silent_p.N410N	p.N410N	NM_001006627.1|NM_001006629.1	NP_001006628.1|NP_001006630.1	P08172	ACM2_HUMAN			3	1758	+			410					Q4VBK6|Q9P1X9	Silent	SNP	ENST00000445907.2	37	c.1230C>T	CCDS5843.1																																																																																				0.473	CHRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341010.1			4	106	0	0	0	1	0	4	106					T	136700842	C	T	136700842	2	4	435	1	0	0	0	0	0	0	0	1	3377	477	17	3		3	CHRM2	7	136700842	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	1307897	136700842	22437821	3816	24741											
PTN	5764	broad.mit.edu	37	chr7	136939648	136939648	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ttcagcagtatccacagctgCcagtatgaaaatgaatgcca	14	9	8	10	0	1	2	1	2	0	0	2	2	2	2	3	0	4	4	3	0	5	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:136939648C>T	ENST00000348225.2	-	2	500	c.73G>A	c.(73-75)Gca>Aca	p.A25T	PTN_ENST00000393083.2_Missense_Mutation_p.A25T	NM_002825.5	NP_002816.1	P21246	PTN_HUMAN	pleiotrophin	25					bone mineralization (GO:0030282)|learning (GO:0007612)|negative regulation of catalytic activity (GO:0043086)|nervous system development (GO:0007399)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)	heparin binding (GO:0008201)|protein phosphatase inhibitor activity (GO:0004864)			NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	23						TCCACAGCTGCCAGTATGAAA	0.443																																						ENST00000348225.2																			0				NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	23						c.(73-75)Gca>Aca		pleiotrophin							80	79	79					7																	136939648		2203	4300	6503	SO:0001583	missense	5764				nervous system development|positive regulation of cell division|positive regulation of cell proliferation|transmembrane receptor protein tyrosine phosphatase signaling pathway	endoplasmic reticulum|extracellular space	growth factor activity|heparin binding|protein phosphatase inhibitor activity	g.chr7:136939648C>T	M57399	CCDS5844.1	7q33	2014-01-30	2008-07-31		ENSG00000105894	ENSG00000105894		"Endogenous ligands"	9630	protein-coding gene	gene with protein product	"heparin binding growth factor 8"	162095	"neurite growth-promoting factor 1"	NEGF1		1457401, 1768439	Standard	NM_002825		Approved	HBNF, HBGF8	uc003vtq.2	P21246	OTTHUMG00000155709	ENST00000348225.2:c.73G>A	7.37:g.136939648C>T	ENSP00000341170:p.Ala25Thr					PTN_ENST00000393083.2_Missense_Mutation_p.A25T	p.A25T	NM_002825.5	NP_002816.1	P21246	PTN_HUMAN			2	500	-			25					Q5U0B0|Q6ICQ5|Q9UCC6	Missense_Mutation	SNP	ENST00000348225.2	37	c.73G>A	CCDS5844.1	.	.	.	.	.	.	.	.	.	.	C	18.95	3.732146	0.69189	.	.	ENSG00000105894	ENST00000348225;ENST00000393083	.	.	.	5.36	5.36	0.76844	.	0.437392	0.27393	N	0.019577	T	0.53400	0.1794	N	0.08118	0	0.43462	D	0.995666	D;D	0.63880	0.993;0.98	D;P	0.70935	0.971;0.811	T	0.58601	-0.7608	9	0.34782	T	0.22	-8.9768	17.2654	0.87085	0.0:1.0:0.0:0.0	.	25;25	C9JR52;P21246	.;PTN_HUMAN	T	25	.	ENSP00000341170:A25T	A	-	1	0	PTN	136590188	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.167000	0.50793	2.487000	0.83934	0.650000	0.86243	GCA		0.443	PTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341339.1	NM_002825		24	55	0	0	0	1	0	24	55					T	136939648	C	T	136939648	3	4	435	1	0	0	0	0	1	0	0	0	12768	739	26	3	449	3	PTN	7	136939648	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	238806	136939648	22199015	3817	24742											
DGKI	9162	broad.mit.edu	37	chr7	137363356	137363356	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtagcagaggtctcccgagaCgttggtctccagccacaggt	8	8	13	12	2	2	2	0	0	2	2	4	3	2	2	3	3	2	3	3	3	1	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:137363356C>T	ENST00000288490.5	-	3	553	c.553G>A	c.(553-555)Gtc>Atc	p.V185I	DGKI_ENST00000424189.2_Missense_Mutation_p.V185I|DGKI_ENST00000446122.1_Missense_Mutation_p.V185I|DGKI_ENST00000453654.2_5'UTR	NM_004717.2	NP_004708.1	O75912	DGKI_HUMAN	diacylglycerol kinase, iota	185					blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|positive regulation of Ras protein signal transduction (GO:0046579)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of Rap GTPase activity (GO:0032317)	cytoplasm (GO:0005737)|guanyl-nucleotide exchange factor complex (GO:0032045)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|GTPase inhibitor activity (GO:0005095)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(46)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	84						TCTCCCGAGACGTTGGTCTCC	0.507																																						ENST00000424189.2																			0				breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(46)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	84						c.(553-555)Gtc>Atc		diacylglycerol kinase, iota							167	154	158					7																	137363356		2203	4300	6503	SO:0001583	missense	9162				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding	g.chr7:137363356C>T	AF061936	CCDS5845.1	7q32.3-q33	2013-01-10			ENSG00000157680	ENSG00000157680		"Ankyrin repeat domain containing"	2855	protein-coding gene	gene with protein product		604072				9830018	Standard	NM_004717		Approved	DGK-IOTA	uc003vtt.3	O75912	OTTHUMG00000155697	ENST00000288490.5:c.553G>A	7.37:g.137363356C>T	ENSP00000288490:p.Val185Ile					DGKI_ENST00000288490.5_Missense_Mutation_p.V185I|DGKI_ENST00000446122.1_Missense_Mutation_p.V185I|DGKI_ENST00000453654.1_5'UTR	p.V185I			O75912	DGKI_HUMAN			3	782	-			185					A4D1Q9|Q9NZ49	Missense_Mutation	SNP	ENST00000288490.5	37	c.553G>A	CCDS5845.1	.	.	.	.	.	.	.	.	.	.	C	17.90	3.502600	0.64298	.	.	ENSG00000157680	ENST00000540376;ENST00000424189;ENST00000288490;ENST00000446122	D;D	0.84660	-1.88;-1.88	5.41	5.41	0.78517	Protein kinase C-like, phorbol ester/diacylglycerol binding (1);	0.112824	0.64402	D	0.000008	T	0.79667	0.4485	L	0.54323	1.7	0.35774	D	0.821112	P	0.37525	0.598	B	0.22601	0.04	T	0.82756	-0.0300	10	0.26408	T	0.33	.	17.9582	0.89076	0.0:1.0:0.0:0.0	.	185	O75912	DGKI_HUMAN	I	133;185;185;185	ENSP00000288490:V185I;ENSP00000399131:V185I	ENSP00000288490:V185I	V	-	1	0	DGKI	137013896	1.000000	0.71417	1.000000	0.80357	0.930000	0.56654	3.667000	0.54547	2.534000	0.85438	0.467000	0.42956	GTC		0.507	DGKI-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341286.3	NM_004717		61	81	0	0	0	1	0	61	81					T	137363356	C	T	137363356	3	4	435	1	0	0	0	0	1	0	0	0	4471	536	19	1	2772	1	DGKI	7	137363356	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	423708	137363356	21775307	3818	24743											
SVOPL	136306	broad.mit.edu	37	chr7	138305867	138305867	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatccccaaagcgcgcatcGtggtggggtagacctgcagg	8	6	14	13	3	0	1	0	0	0	1	2	1	1	1	4	4	2	3	4	4	2	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:138305867G>A	ENST00000419765.3	-	13	1310	c.1277C>T	c.(1276-1278)aCg>aTg	p.T426M	SVOPL_ENST00000436657.1_Missense_Mutation_p.T274M|SVOPL_ENST00000463557.1_Intron|SVOPL_ENST00000421622.1_Missense_Mutation_p.T306M|SVOPL_ENST00000288513.5_Missense_Mutation_p.T274M	NM_001139456.1	NP_001132928.1	Q8N434	SVOPL_HUMAN	SVOP-like	426						integral component of membrane (GO:0016021)	transmembrane transporter activity (GO:0022857)			NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	19						AGCGCGCATCGTGGTGGGGTA	0.597																																						ENST00000421622.1																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	19						c.(916-918)aCg>aTg		SVOP-like							58	45	50					7																	138305867		2203	4300	6503	SO:0001583	missense	136306					integral to membrane	transmembrane transporter activity	g.chr7:138305867G>A	BC036796	CCDS5848.1, CCDS47721.1	7q34	2011-07-12	2007-04-04		ENSG00000157703	ENSG00000157703			27034	protein-coding gene	gene with protein product		611700	"SV2 related protein homolog (rat)-like"				Standard	NM_001139456		Approved	MGC46715	uc011kqh.2	Q8N434	OTTHUMG00000155870	ENST00000419765.3:c.1277C>T	7.37:g.138305867G>A	ENSP00000405482:p.Thr426Met					SVOPL_ENST00000288513.5_Missense_Mutation_p.T274M|SVOPL_ENST00000463557.1_Intron|SVOPL_ENST00000419765.3_Missense_Mutation_p.T426M|SVOPL_ENST00000436657.1_Missense_Mutation_p.T274M	p.T306M			Q8N434	SVOPL_HUMAN			10	1125	-			426						Missense_Mutation	SNP	ENST00000419765.3	37	c.917C>T	CCDS47721.1	.	.	.	.	.	.	.	.	.	.	G	7.070	0.568152	0.13560	.	.	ENSG00000157703	ENST00000288513;ENST00000421622;ENST00000436657;ENST00000419765	T;T;T;T	0.59224	0.28;0.28;0.28;0.28	5.32	4.44	0.53790	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.899902	0.09868	N	0.745250	T	0.44138	0.1279	N	0.21282	0.65	0.09310	N	1	B;B	0.15473	0.003;0.013	B;B	0.11329	0.003;0.006	T	0.29912	-0.9996	10	0.33141	T	0.24	-3.3998	10.1323	0.42687	0.1524:0.0:0.8476:0.0	.	426;274	Q8N434;Q8N434-2	SVOPL_HUMAN;.	M	274;306;274;426	ENSP00000288513:T274M;ENSP00000412830:T306M;ENSP00000417018:T274M;ENSP00000405482:T426M	ENSP00000288513:T274M	T	-	2	0	SVOPL	137956407	0.103000	0.21917	0.040000	0.18447	0.546000	0.35178	2.773000	0.47686	1.245000	0.43885	0.650000	0.86243	ACG		0.597	SVOPL-005	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342092.4	NM_174959		5	21	0	0	0	1	0	5	21					A	138305867	G	A	138305867	3	1	435	1	0	0	0	0	1	0	0	0	15421	1145	40	1	213	1	SVOPL	7	138305867	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	942511	138305867	20832796	3819	24744											
SVOPL	136306	broad.mit.edu	37	chr7	138312093	138312093	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gaagcaattaaacagaaaatAccttgaagtgcaaatgttga	19	9	8	5	0	0	3	0	2	0	1	0	4	0	3	1	0	4	3	1	0	9	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:138312093A>G	ENST00000419765.3	-	11	1215		c.e11+1		SVOPL_ENST00000436657.1_Splice_Site|SNORA40_ENST00000516379.1_RNA|SVOPL_ENST00000463557.1_Splice_Site|SVOPL_ENST00000421622.1_Splice_Site|SVOPL_ENST00000288513.5_Splice_Site	NM_001139456.1	NP_001132928.1	Q8N434	SVOPL_HUMAN	SVOP-like							integral component of membrane (GO:0016021)	transmembrane transporter activity (GO:0022857)			NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	19						AACAGAAAATACCTTGAAGTG	0.433																																						ENST00000421622.1																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	19						c.e8+1		SVOP-like							84	77	79					7																	138312093		2203	4300	6503	SO:0001630	splice_region_variant	136306					integral to membrane	transmembrane transporter activity	g.chr7:138312093A>G	BC036796	CCDS5848.1, CCDS47721.1	7q34	2011-07-12	2007-04-04		ENSG00000157703	ENSG00000157703			27034	protein-coding gene	gene with protein product		611700	"SV2 related protein homolog (rat)-like"				Standard	NM_001139456		Approved	MGC46715	uc011kqh.2	Q8N434	OTTHUMG00000155870	ENST00000419765.3:c.1181+1T>C	7.37:g.138312093A>G						SVOPL_ENST00000288513.5_Splice_Site|SVOPL_ENST00000463557.1_Splice_Site|SVOPL_ENST00000419765.3_Splice_Site|SVOPL_ENST00000436657.1_Splice_Site				Q8N434	SVOPL_HUMAN			8	1030	-									Splice_Site	SNP	ENST00000419765.3	37		CCDS47721.1	.	.	.	.	.	.	.	.	.	.	A	18.45	3.626669	0.66901	.	.	ENSG00000157703	ENST00000288513;ENST00000421622;ENST00000436657;ENST00000419765	.	.	.	5.61	5.61	0.85477	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.8094	0.78547	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SVOPL	137962633	1.000000	0.71417	0.998000	0.56505	0.932000	0.56968	6.125000	0.71627	2.141000	0.66446	0.533000	0.62120	.		0.433	SVOPL-005	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342092.4	NM_174959	Intron	17	25	0	0	0	1	0	17	25					G	138312093	A	G	138312093	5	3	435	1	0	0	0	0	0	0	1	0	15421	405	14	4	315	4	SVOPL	7	138312093	Splice_Site	SNP	A	TCGA-XK-AAIW-01A-11D-A41K-08	6226	138312093	20826570	3820	24745											
SVOPL	136306	broad.mit.edu	37	chr7	138314816	138314816	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatgacccagatctgtaatgTggtccgtaaatatttagcat	12	14	8	7	1	1	2	0	1	1	1	2	2	2	2	2	1	1	3	2	1	6	6			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:138314816T>C	ENST00000419765.3	-	9	874	c.841A>G	c.(841-843)Aca>Gca	p.T281A	SVOPL_ENST00000436657.1_Missense_Mutation_p.T129A|SVOPL_ENST00000463557.1_5'Flank|SVOPL_ENST00000421622.1_Missense_Mutation_p.T161A|SVOPL_ENST00000288513.5_Missense_Mutation_p.T129A	NM_001139456.1	NP_001132928.1	Q8N434	SVOPL_HUMAN	SVOP-like	281						integral component of membrane (GO:0016021)	transmembrane transporter activity (GO:0022857)			NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	19						ATCTGTAATGTGGTCCGTAAA	0.373																																						ENST00000421622.1																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	19						c.(481-483)Aca>Gca		SVOP-like							200	172	181					7																	138314816		2203	4300	6503	SO:0001583	missense	136306					integral to membrane	transmembrane transporter activity	g.chr7:138314816T>C	BC036796	CCDS5848.1, CCDS47721.1	7q34	2011-07-12	2007-04-04		ENSG00000157703	ENSG00000157703			27034	protein-coding gene	gene with protein product		611700	"SV2 related protein homolog (rat)-like"				Standard	NM_001139456		Approved	MGC46715	uc011kqh.2	Q8N434	OTTHUMG00000155870	ENST00000419765.3:c.841A>G	7.37:g.138314816T>C	ENSP00000405482:p.Thr281Ala					SVOPL_ENST00000288513.5_Missense_Mutation_p.T129A|SVOPL_ENST00000419765.3_Missense_Mutation_p.T281A|SVOPL_ENST00000436657.1_Missense_Mutation_p.T129A	p.T161A			Q8N434	SVOPL_HUMAN			6	689	-			281						Missense_Mutation	SNP	ENST00000419765.3	37	c.481A>G	CCDS47721.1	.	.	.	.	.	.	.	.	.	.	T	18.96	3.734056	0.69189	.	.	ENSG00000157703	ENST00000288513;ENST00000421622;ENST00000436657;ENST00000419765	T;T;T;T	0.59224	0.28;0.28;0.28;0.28	5.43	5.43	0.79202	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.048099	0.85682	D	0.000000	T	0.57873	0.2083	M	0.74389	2.26	0.36879	D	0.88932	P;P	0.39022	0.515;0.655	B;B	0.38264	0.266;0.269	T	0.70212	-0.4934	10	0.87932	D	0	-17.7225	10.8281	0.46645	0.1408:0.0:0.0:0.8591	.	281;129	Q8N434;Q8N434-2	SVOPL_HUMAN;.	A	129;161;129;281	ENSP00000288513:T129A;ENSP00000412830:T161A;ENSP00000417018:T129A;ENSP00000405482:T281A	ENSP00000288513:T129A	T	-	1	0	SVOPL	137965356	1.000000	0.71417	0.995000	0.50966	0.873000	0.50193	3.452000	0.52971	2.277000	0.76020	0.528000	0.53228	ACA		0.373	SVOPL-005	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342092.4	NM_174959		33	41	0	0	0	1	0	33	41					C	138314816	T	C	138314816	3	2	435	1	0	0	0	0	1	0	0	0	15421	1696	59	4	665	4	SVOPL	7	138314816	Missense_Mutation	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	2723	138314816	20823847	3821	24746											
ATP6V0A4	50617	broad.mit.edu	37	chr7	138455972	138455972	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgtgacaaacacatctcctcGcttcgaaacacagacaccat	14	8	5	14	2	1	2	0	1	1	1	4	3	1	2	2	0	2	1	2	0	2	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:138455972G>A	ENST00000310018.2	-	3	303	c.21C>T	c.(19-21)agC>agT	p.S7S	ATP6V0A4_ENST00000393054.1_Silent_p.S7S|ATP6V0A4_ENST00000353492.4_Silent_p.S7S|ATP6V0A4_ENST00000483139.1_5'UTR	NM_020632.2|NM_130840.2	NP_065683.2|NP_570855.2	Q9HBG4	VPP4_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit a4	7					ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|excretion (GO:0007588)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|ossification (GO:0001503)|phagosome maturation (GO:0090382)|proton transport (GO:0015992)|regulation of pH (GO:0006885)|sensory perception of sound (GO:0007605)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)|vacuolar proton-transporting V-type ATPase, V0 domain (GO:0000220)	ATPase binding (GO:0051117)|hydrogen ion transmembrane transporter activity (GO:0015078)			NS(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						ACATCTCCTCGCTTCGAAACA	0.438																																						ENST00000310018.2																			0				NS(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						c.(19-21)agC>agT		ATPase, H+ transporting, lysosomal V0 subunit a4							152	149	150					7																	138455972		2203	4300	6503	SO:0001819	synonymous_variant	50617				cellular iron ion homeostasis|excretion|insulin receptor signaling pathway|ossification|regulation of pH|sensory perception of sound|transferrin transport	apical plasma membrane|brush border membrane|endosome membrane|integral to membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	ATPase binding|hydrogen ion transmembrane transporter activity	g.chr7:138455972G>A	AF245517	CCDS5849.1	7q34	2011-06-09	2006-01-20	2002-05-10	ENSG00000105929	ENSG00000105929		"ATPases / V-type"	866	protein-coding gene	gene with protein product		605239	"ATPase, H+ transporting, lysosomal (vacuolar proton pump) non-catalytic accessory protein 1B", "ATPase, H+ transporting, lysosomal V0 subunit a isoform 4", "ATPase, H+ transporting, lysosomal V0 subunit A4"	ATP6N1B, ATP6N2, RTA1C		10577919, 10973252	Standard	XM_005250393		Approved	RDRTA2, VPP2, RTADR, a4, Vph1, Stv1	uc003vuf.3	Q9HBG4	OTTHUMG00000157122	ENST00000310018.2:c.21C>T	7.37:g.138455972G>A						ATP6V0A4_ENST00000483139.1_5'UTR|ATP6V0A4_ENST00000393054.1_Silent_p.S7S|ATP6V0A4_ENST00000353492.4_Silent_p.S7S	p.S7S	NM_020632.2|NM_130840.2	NP_065683.2|NP_570855.2	Q9HBG4	VPP4_HUMAN			3	303	-			7					A4D1R4|A8KA80|Q32M47	Silent	SNP	ENST00000310018.2	37	c.21C>T	CCDS5849.1																																																																																				0.438	ATP6V0A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347514.1	NM_020632		57	81	0	0	0	1	0	57	81					A	138455972	G	A	138455972	2	1	435	1	0	0	0	0	0	0	0	1	1170	1078	38	1		1	ATP6V0A4	7	138455972	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	141156	138455972	20682691	3822	24747											
ZC3HAV1	56829	broad.mit.edu	37	chr7	138732578	138732578	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	aatttttgtgggaatagatgGcatcttttgcaaagtaaatt	13	16	9	3	0	1	1	0	0	1	1	1	2	1	2	0	2	1	3	0	2	6	7			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:138732578G>A	ENST00000242351.5	-	13	2787	c.2471C>T	c.(2470-2472)gCc>gTc	p.A824V	ZC3HAV1_ENST00000464606.1_Missense_Mutation_p.A946V	NM_020119.3	NP_064504.2	Q7Z2W4	ZCCHV_HUMAN	zinc finger CCCH-type, antiviral 1	824	PARP catalytic. {ECO:0000255|PROSITE- ProRule:PRU00397}.				defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of viral genome replication (GO:0045071)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of mRNA catabolic process (GO:0061014)|positive regulation of RIG-I signaling pathway (GO:1900246)|response to virus (GO:0009615)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|NAD+ ADP-ribosyltransferase activity (GO:0003950)|poly(A) RNA binding (GO:0044822)			cervix(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|prostate(4)|skin(1)	37						GGAATAGATGGCATCTTTTGC	0.318																																						ENST00000242351.5																			0				cervix(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|prostate(4)|skin(1)	37						c.(2470-2472)gCc>gTc		zinc finger CCCH-type, antiviral 1							75	78	77					7																	138732578		2203	4300	6503	SO:0001583	missense	56829				response to virus	cytoplasm|nucleus	NAD+ ADP-ribosyltransferase activity|RNA binding|zinc ion binding	g.chr7:138732578G>A	BX571742	CCDS5851.1, CCDS55171.1	7q34	2012-07-05			ENSG00000105939	ENSG00000105939		"Zinc fingers, CCCH-type domain containing", "Poly (ADP-ribose) polymerases"	23721	protein-coding gene	gene with protein product	"zinc finger antiviral protein", " CCCH-type zinc finger antiviral protein"	607312				12215647, 12851707	Standard	NM_024625		Approved	ZAP, FLB6421, FLJ13288, MGC48898, ZC3HDC2, ZC3H2, PARP13	uc003vun.3	Q7Z2W4	OTTHUMG00000157471	ENST00000242351.5:c.2471C>T	7.37:g.138732578G>A	ENSP00000242351:p.Ala824Val					ZC3HAV1_ENST00000464606.1_Missense_Mutation_p.A946V	p.A824V	NM_020119.3	NP_064504.2	Q7Z2W4	ZCCHV_HUMAN			13	2787	-			824			PARP catalytic.		A4D1R2|A4D1S4|Q8IW57|Q8TAJ3|Q96N79|Q9H8R9|Q9P0Y7	Missense_Mutation	SNP	ENST00000242351.5	37	c.2471C>T	CCDS5851.1	.	.	.	.	.	.	.	.	.	.	G	24.3	4.512280	0.85389	.	.	ENSG00000105939	ENST00000242351;ENST00000464606	T;T	0.15139	2.45;2.45	5.23	4.34	0.51931	Poly(ADP-ribose) polymerase, catalytic domain (2);	0.260027	0.27429	N	0.019406	T	0.43942	0.1270	M	0.84511	2.7	0.80722	D	1	D	0.76494	0.999	D	0.66084	0.941	T	0.52177	-0.8610	10	0.87932	D	0	.	13.5062	0.61485	0.0:0.1578:0.8422:0.0	.	824	Q7Z2W4	ZCCHV_HUMAN	V	824;946	ENSP00000242351:A824V;ENSP00000418385:A946V	ENSP00000242351:A824V	A	-	2	0	ZC3HAV1	138383118	1.000000	0.71417	0.493000	0.27502	0.980000	0.70556	8.178000	0.89690	1.404000	0.46819	0.555000	0.69702	GCC		0.318	ZC3HAV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348915.1	NM_020119		23	41	0	0	0	1	0	23	41					A	138732578	G	A	138732578	3	1	435	1	0	0	0	0	1	0	0	0	17572	1203	42	3	241	3	ZC3HAV1	7	138732578	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	276606	138732578	20406085	3823	24748											
ZC3HAV1	56829	broad.mit.edu	37	chr7	138749722	138749722	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tccaggtatgaagagtcgacGtttgaatttttccgtttgtc	8	16	10	7	3	0	3	0	2	0	1	4	4	2	3	2	1	0	3	2	1	3	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:138749722G>A	ENST00000242351.5	-	8	2212	c.1896C>T	c.(1894-1896)aaC>aaT	p.N632N	ZC3HAV1_ENST00000471652.1_Silent_p.N632N|ZC3HAV1_ENST00000464606.1_Silent_p.N754N	NM_020119.3	NP_064504.2	Q7Z2W4	ZCCHV_HUMAN	zinc finger CCCH-type, antiviral 1	632	WWE. {ECO:0000255|PROSITE- ProRule:PRU00248}.				defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of viral genome replication (GO:0045071)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of mRNA catabolic process (GO:0061014)|positive regulation of RIG-I signaling pathway (GO:1900246)|response to virus (GO:0009615)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|NAD+ ADP-ribosyltransferase activity (GO:0003950)|poly(A) RNA binding (GO:0044822)			cervix(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|prostate(4)|skin(1)	37						AAGAGTCGACGTTTGAATTTT	0.413																																						ENST00000242351.5																			0				cervix(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|prostate(4)|skin(1)	37						c.(1894-1896)aaC>aaT		zinc finger CCCH-type, antiviral 1							100	99	99					7																	138749722		2203	4300	6503	SO:0001819	synonymous_variant	56829				response to virus	cytoplasm|nucleus	NAD+ ADP-ribosyltransferase activity|RNA binding|zinc ion binding	g.chr7:138749722G>A	BX571742	CCDS5851.1, CCDS55171.1	7q34	2012-07-05			ENSG00000105939	ENSG00000105939		"Zinc fingers, CCCH-type domain containing", "Poly (ADP-ribose) polymerases"	23721	protein-coding gene	gene with protein product	"zinc finger antiviral protein", " CCCH-type zinc finger antiviral protein"	607312				12215647, 12851707	Standard	NM_024625		Approved	ZAP, FLB6421, FLJ13288, MGC48898, ZC3HDC2, ZC3H2, PARP13	uc003vun.3	Q7Z2W4	OTTHUMG00000157471	ENST00000242351.5:c.1896C>T	7.37:g.138749722G>A						ZC3HAV1_ENST00000464606.1_Silent_p.N754N|ZC3HAV1_ENST00000471652.1_Silent_p.N632N	p.N632N	NM_020119.3	NP_064504.2	Q7Z2W4	ZCCHV_HUMAN			8	2212	-			632			WWE.		A4D1R2|A4D1S4|Q8IW57|Q8TAJ3|Q96N79|Q9H8R9|Q9P0Y7	Silent	SNP	ENST00000242351.5	37	c.1896C>T	CCDS5851.1	.	.	.	.	.	.	.	.	.	.	G	3.448	-0.112633	0.06881	.	.	ENSG00000105939	ENST00000460845	.	.	.	4.32	-1.43	0.08884	.	.	.	.	.	T	0.21227	0.0511	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.27226	-1.0080	4	.	.	.	.	3.2415	0.06782	0.3116:0.0:0.28:0.4084	.	.	.	.	C	197	.	.	R	-	1	0	ZC3HAV1	138400262	0.000000	0.05858	0.000000	0.03702	0.024000	0.10985	0.045000	0.14013	-0.080000	0.12685	0.644000	0.83932	CGT		0.413	ZC3HAV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348915.1	NM_020119		28	21	0	0	0	1	0	28	21					A	138749722	G	A	138749722	2	1	435	1	0	0	0	0	0	0	0	1	17572	1136	40	1		1	ZC3HAV1	7	138749722	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	17144	138749722	20388941	3824	24749											
UBN2	254048	broad.mit.edu	37	chr7	138936733	138936733	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccgtaaacaccggaaggatcGgctacaagatttaattgata	15	9	9	8	3	0	2	0	1	0	1	1	4	0	4	2	3	2	2	2	3	7	6			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:138936733G>T	ENST00000473989.3	+	3	593	c.593G>T	c.(592-594)cGg>cTg	p.R198L	UBN2_ENST00000288561.8_Missense_Mutation_p.R115L	NM_173569.3	NP_775840.3	Q6ZU65	UBN2_HUMAN	ubinuclein 2	198						extracellular space (GO:0005615)|nucleus (GO:0005634)				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	42						CGGAAGGATCGGCTACAAGAT	0.383																																						ENST00000288561.8																			0				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	42						c.(343-345)cGg>cTg		ubinuclein 2							113	113	113					7																	138936733		1835	4083	5918	SO:0001583	missense	254048							g.chr7:138936733G>T	AK098644	CCDS43655.1, CCDS43655.2	7q34	2008-12-08			ENSG00000157741	ENSG00000157741			21931	protein-coding gene	gene with protein product		613841				19029251	Standard	NM_173569		Approved	FLJ25778, KIAA2030	uc011kqr.2	Q6ZU65	OTTHUMG00000157623	ENST00000473989.3:c.593G>T	7.37:g.138936733G>T	ENSP00000418648:p.Arg198Leu					UBN2_ENST00000473989.2_Missense_Mutation_p.R198L	p.R115L	NM_173569.3	NP_775840.3	Q6ZU65	UBN2_HUMAN			3	593	+			198			Pro-rich.		A4D1S2|Q2YDY4|Q6P1K0|Q86XN9|Q8N7D1	Missense_Mutation	SNP	ENST00000473989.3	37	c.344G>T	CCDS43655.2	.	.	.	.	.	.	.	.	.	.	G	28.0	4.884976	0.91814	.	.	ENSG00000157741	ENST00000486663;ENST00000473989;ENST00000288561	T;T	0.41400	1.03;1.0	5.14	4.26	0.50523	.	0.000000	0.85682	D	0.000000	T	0.45216	0.1331	M	0.71206	2.165	0.58432	D	0.999995	B	0.21225	0.053	B	0.17722	0.019	T	0.49263	-0.8958	10	0.72032	D	0.01	-9.4018	15.2875	0.73838	0.0:0.0:0.8591:0.1409	.	198	Q6ZU65	UBN2_HUMAN	L	21;198;115	ENSP00000418648:R198L;ENSP00000288561:R115L	ENSP00000288561:R115L	R	+	2	0	UBN2	138587273	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	8.852000	0.92215	1.392000	0.46585	0.655000	0.94253	CGG		0.383	UBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349272.3	NM_173569		32	33	1	0	2.87052e-16	1	3.15041e-16	32	33					T	138936733	G	T	138936733	3	4	435	1	0	0	0	0	1	0	0	0	16890	1116	39	5	603	5	UBN2	7	138936733	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	187011	138936733	20201930	3825	24750											
HIPK2	28996	broad.mit.edu	37	chr7	139257921	139257921	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgaggccaccaggtgggccaCggtgccggtggagcccaggg	6	3	19	13	3	0	0	0	0	0	0	0	2	0	1	5	7	2	0	5	7	0	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:139257921C>T	ENST00000406875.3	-	15	3443	c.3349G>A	c.(3349-3351)Gtg>Atg	p.V1117M	HIPK2_ENST00000428878.2_Missense_Mutation_p.V1090M	NM_022740.4	NP_073577.3	Q9H2X6	HIPK2_HUMAN	homeodomain interacting protein kinase 2	1117	Autoinhibitory domain (AID).				adult walking behavior (GO:0007628)|anterior/posterior pattern specification (GO:0009952)|cellular response to hypoxia (GO:0071456)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|erythrocyte differentiation (GO:0030218)|eye development (GO:0001654)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|iris morphogenesis (GO:0061072)|lens induction in camera-type eye (GO:0060235)|modulation by virus of host morphology or physiology (GO:0019048)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron differentiation (GO:0030182)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|PML body organization (GO:0030578)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA binding (GO:0043388)|positive regulation of JNK cascade (GO:0046330)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|protein phosphorylation (GO:0006468)|regulation of cell cycle (GO:0051726)|retina layer formation (GO:0010842)|SMAD protein signal transduction (GO:0060395)|smoothened signaling pathway (GO:0007224)|transforming growth factor beta receptor signaling pathway (GO:0007179)|voluntary musculoskeletal movement (GO:0050882)	cytoplasm (GO:0005737)|nuclear body (GO:0016604)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II transcription coactivator activity (GO:0001105)|SMAD binding (GO:0046332)|transcription corepressor activity (GO:0003714)|virion binding (GO:0046790)			breast(4)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Melanoma(164;0.205)					AGGTGGGCCACGGTGCCGGTG	0.726																																						ENST00000406875.3																			0				breast(4)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						c.(3349-3351)Gtg>Atg		homeodomain interacting protein kinase 2							21	26	24					7																	139257921		2059	4176	6235	SO:0001583	missense	28996				apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|negative regulation of BMP signaling pathway|positive regulation of JNK cascade|positive regulation of transforming growth factor beta receptor signaling pathway|SMAD protein signal transduction|transcription, DNA-dependent|virus-host interaction	centrosome|nuclear membrane|PML body	ATP binding|protein serine/threonine kinase activity|SMAD binding|transcription corepressor activity|virion binding	g.chr7:139257921C>T	AF208291	CCDS75666.1, CCDS75667.1	7q32-q34	2004-01-29	2001-11-29		ENSG00000064393	ENSG00000064393			14402	protein-coding gene	gene with protein product		606868	"homeodomain-interacting protein kinase 2"			11120354	Standard	NM_001113239		Approved		uc003vvf.4	Q9H2X6	OTTHUMG00000157704	ENST00000406875.3:c.3349G>A	7.37:g.139257921C>T	ENSP00000385571:p.Val1117Met					HIPK2_ENST00000428878.2_Missense_Mutation_p.V1090M	p.V1117M	NM_022740.4	NP_073577.3	Q9H2X6	HIPK2_HUMAN			15	3443	-	Melanoma(164;0.205)		1117			Autoinhibitory domain (AID).		Q75MR7|Q8WWI4|Q9H2Y1	Missense_Mutation	SNP	ENST00000406875.3	37	c.3349G>A		.	.	.	.	.	.	.	.	.	.	C	17.65	3.442693	0.63067	.	.	ENSG00000064393	ENST00000406875;ENST00000428878	T;T	0.57752	0.38;0.38	5.38	5.38	0.77491	.	.	.	.	.	T	0.72708	0.3494	.	.	.	0.51482	D	0.999929	D;D	0.89917	0.999;1.0	D;D	0.69479	0.921;0.964	T	0.73161	-0.4070	8	0.46703	T	0.11	.	19.134	0.93418	0.0:1.0:0.0:0.0	.	1117;1090	Q9H2X6;Q9H2X6-3	HIPK2_HUMAN;.	M	1117;1090	ENSP00000385571:V1117M;ENSP00000413724:V1090M	ENSP00000385571:V1117M	V	-	1	0	HIPK2	138908461	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.408000	0.52651	2.532000	0.85374	0.655000	0.94253	GTG		0.726	HIPK2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000349430.3	NM_022740		15	11	0	0	0	1	0	15	11					T	139257921	C	T	139257921	3	4	435	1	0	0	0	0	1	0	0	0	7117	536	19	1	251	1	HIPK2	7	139257921	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	321188	139257921	19880742	3826	24751											
HIPK2	28996	broad.mit.edu	37	chr7	139257950	139257950	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tggagcccagggccgccggcGcagtgtaggtgtagaggtgg	6	6	20	9	3	0	1	0	0	0	1	0	2	0	2	3	6	1	3	3	6	2	2	rs375558560		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:139257950G>A	ENST00000406875.3	-	15	3414	c.3320C>T	c.(3319-3321)gCg>gTg	p.A1107V	HIPK2_ENST00000428878.2_Missense_Mutation_p.A1080V	NM_022740.4	NP_073577.3	Q9H2X6	HIPK2_HUMAN	homeodomain interacting protein kinase 2	1107	Autoinhibitory domain (AID).				adult walking behavior (GO:0007628)|anterior/posterior pattern specification (GO:0009952)|cellular response to hypoxia (GO:0071456)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|erythrocyte differentiation (GO:0030218)|eye development (GO:0001654)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|iris morphogenesis (GO:0061072)|lens induction in camera-type eye (GO:0060235)|modulation by virus of host morphology or physiology (GO:0019048)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron differentiation (GO:0030182)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|PML body organization (GO:0030578)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA binding (GO:0043388)|positive regulation of JNK cascade (GO:0046330)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|protein phosphorylation (GO:0006468)|regulation of cell cycle (GO:0051726)|retina layer formation (GO:0010842)|SMAD protein signal transduction (GO:0060395)|smoothened signaling pathway (GO:0007224)|transforming growth factor beta receptor signaling pathway (GO:0007179)|voluntary musculoskeletal movement (GO:0050882)	cytoplasm (GO:0005737)|nuclear body (GO:0016604)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II transcription coactivator activity (GO:0001105)|SMAD binding (GO:0046332)|transcription corepressor activity (GO:0003714)|virion binding (GO:0046790)			breast(4)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Melanoma(164;0.205)					GGCCGCCGGCGCAGTGTAGGT	0.721																																						ENST00000406875.3																			0				breast(4)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						c.(3319-3321)gCg>gTg		homeodomain interacting protein kinase 2		G	VAL/ALA,VAL/ALA	0,4080		0,0,2040	27	33	31		2189,2270	5.4	0.9	7		31	1,8321		0,1,4160	no	missense,missense	HIPK2	NM_001113239.2,NM_022740.4	64,64	0,1,6200	AA,AG,GG		0.012,0.0,0.0081	benign,benign	730/822,757/849	139257950	1,12401	2040	4161	6201	SO:0001583	missense	28996				apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|negative regulation of BMP signaling pathway|positive regulation of JNK cascade|positive regulation of transforming growth factor beta receptor signaling pathway|SMAD protein signal transduction|transcription, DNA-dependent|virus-host interaction	centrosome|nuclear membrane|PML body	ATP binding|protein serine/threonine kinase activity|SMAD binding|transcription corepressor activity|virion binding	g.chr7:139257950G>A	AF208291	CCDS75666.1, CCDS75667.1	7q32-q34	2004-01-29	2001-11-29		ENSG00000064393	ENSG00000064393			14402	protein-coding gene	gene with protein product		606868	"homeodomain-interacting protein kinase 2"			11120354	Standard	NM_001113239		Approved		uc003vvf.4	Q9H2X6	OTTHUMG00000157704	ENST00000406875.3:c.3320C>T	7.37:g.139257950G>A	ENSP00000385571:p.Ala1107Val					HIPK2_ENST00000428878.2_Missense_Mutation_p.A1080V	p.A1107V	NM_022740.4	NP_073577.3	Q9H2X6	HIPK2_HUMAN			15	3414	-	Melanoma(164;0.205)		1107			Autoinhibitory domain (AID).		Q75MR7|Q8WWI4|Q9H2Y1	Missense_Mutation	SNP	ENST00000406875.3	37	c.3320C>T		.	.	.	.	.	.	.	.	.	.	G	18.69	3.678197	0.68042	0.0	1.2E-4	ENSG00000064393	ENST00000406875;ENST00000428878	T;T	0.56611	0.47;0.45	5.38	5.38	0.77491	.	.	.	.	.	T	0.51007	0.1649	.	.	.	0.50039	D	0.999849	B;B	0.31054	0.203;0.306	B;B	0.31337	0.06;0.128	T	0.53337	-0.8453	8	0.62326	D	0.03	.	19.134	0.93418	0.0:0.0:1.0:0.0	.	1107;1080	Q9H2X6;Q9H2X6-3	HIPK2_HUMAN;.	V	1107;1080	ENSP00000385571:A1107V;ENSP00000413724:A1080V	ENSP00000385571:A1107V	A	-	2	0	HIPK2	138908490	1.000000	0.71417	0.943000	0.38184	0.810000	0.45777	8.998000	0.93550	2.532000	0.85374	0.655000	0.94253	GCG		0.721	HIPK2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000349430.3	NM_022740		22	16	0	0	0	1	0	22	16					A	139257950	G	A	139257950	3	1	435	1	0	0	0	0	1	0	0	0	7117	1087	38	1	280	1	HIPK2	7	139257950	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	29	139257950	19880713	3827	24752											
HIPK2	28996	broad.mit.edu	37	chr7	139258061	139258061	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgttgtgcgggaaggagtacGgagcctgggccatggtggga	7	8	20	6	2	0	0	0	0	0	0	0	4	0	4	2	6	3	2	2	6	2	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:139258061G>A	ENST00000406875.3	-	15	3303	c.3209C>T	c.(3208-3210)cCg>cTg	p.P1070L	HIPK2_ENST00000428878.2_Missense_Mutation_p.P1043L	NM_022740.4	NP_073577.3	Q9H2X6	HIPK2_HUMAN	homeodomain interacting protein kinase 2	1070	Autoinhibitory domain (AID).				adult walking behavior (GO:0007628)|anterior/posterior pattern specification (GO:0009952)|cellular response to hypoxia (GO:0071456)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|erythrocyte differentiation (GO:0030218)|eye development (GO:0001654)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|iris morphogenesis (GO:0061072)|lens induction in camera-type eye (GO:0060235)|modulation by virus of host morphology or physiology (GO:0019048)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron differentiation (GO:0030182)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|PML body organization (GO:0030578)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA binding (GO:0043388)|positive regulation of JNK cascade (GO:0046330)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|protein phosphorylation (GO:0006468)|regulation of cell cycle (GO:0051726)|retina layer formation (GO:0010842)|SMAD protein signal transduction (GO:0060395)|smoothened signaling pathway (GO:0007224)|transforming growth factor beta receptor signaling pathway (GO:0007179)|voluntary musculoskeletal movement (GO:0050882)	cytoplasm (GO:0005737)|nuclear body (GO:0016604)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II transcription coactivator activity (GO:0001105)|SMAD binding (GO:0046332)|transcription corepressor activity (GO:0003714)|virion binding (GO:0046790)			breast(4)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Melanoma(164;0.205)					GAAGGAGTACGGAGCCTGGGC	0.687																																						ENST00000406875.3																			0				breast(4)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						c.(3208-3210)cCg>cTg		homeodomain interacting protein kinase 2							86	106	100					7																	139258061		2180	4278	6458	SO:0001583	missense	28996				apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|negative regulation of BMP signaling pathway|positive regulation of JNK cascade|positive regulation of transforming growth factor beta receptor signaling pathway|SMAD protein signal transduction|transcription, DNA-dependent|virus-host interaction	centrosome|nuclear membrane|PML body	ATP binding|protein serine/threonine kinase activity|SMAD binding|transcription corepressor activity|virion binding	g.chr7:139258061G>A	AF208291	CCDS75666.1, CCDS75667.1	7q32-q34	2004-01-29	2001-11-29		ENSG00000064393	ENSG00000064393			14402	protein-coding gene	gene with protein product		606868	"homeodomain-interacting protein kinase 2"			11120354	Standard	NM_001113239		Approved		uc003vvf.4	Q9H2X6	OTTHUMG00000157704	ENST00000406875.3:c.3209C>T	7.37:g.139258061G>A	ENSP00000385571:p.Pro1070Leu					HIPK2_ENST00000428878.2_Missense_Mutation_p.P1043L	p.P1070L	NM_022740.4	NP_073577.3	Q9H2X6	HIPK2_HUMAN			15	3303	-	Melanoma(164;0.205)		1070			Autoinhibitory domain (AID).		Q75MR7|Q8WWI4|Q9H2Y1	Missense_Mutation	SNP	ENST00000406875.3	37	c.3209C>T		.	.	.	.	.	.	.	.	.	.	G	15.13	2.743449	0.49151	.	.	ENSG00000064393	ENST00000406875;ENST00000428878	T;T	0.55052	0.54;0.56	4.86	4.86	0.63082	.	.	.	.	.	T	0.45935	0.1367	.	.	.	0.80722	D	1	P;P	0.47106	0.824;0.89	B;B	0.35312	0.098;0.2	T	0.57940	-0.7724	8	0.87932	D	0	.	18.1688	0.89737	0.0:0.0:1.0:0.0	.	1070;1043	Q9H2X6;Q9H2X6-3	HIPK2_HUMAN;.	L	1070;1043	ENSP00000385571:P1070L;ENSP00000413724:P1043L	ENSP00000385571:P1070L	P	-	2	0	HIPK2	138908601	1.000000	0.71417	0.560000	0.28344	0.880000	0.50808	6.954000	0.76001	2.532000	0.85374	0.655000	0.94253	CCG		0.687	HIPK2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000349430.3	NM_022740		23	53	0	0	0	1	0	23	53					A	139258061	G	A	139258061	3	1	435	1	0	0	0	0	1	0	0	0	7117	1116	39	2	391	2	HIPK2	7	139258061	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	111	139258061	19880602	3828	24753											
TBXAS1	6916	broad.mit.edu	37	chr7	139529239	139529239	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtgaatggccccatggtgaCggtggccctgtcagtggctc	6	9	15	11	1	1	2	1	2	0	0	2	2	1	2	3	5	0	1	3	5	1	0	rs61733586	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:139529239C>T	ENST00000455353.1	+	1	187	c.50C>T	c.(49-51)aCg>aTg	p.T17M	TBXAS1_ENST00000263552.6_Missense_Mutation_p.T18M|TBXAS1_ENST00000411653.1_Missense_Mutation_p.T17M|TBXAS1_ENST00000539806.1_Missense_Mutation_p.T18M|TBXAS1_ENST00000416849.2_Missense_Mutation_p.T18M|TBXAS1_ENST00000425687.1_Intron|TBXAS1_ENST00000462275.1_3'UTR|TBXAS1_ENST00000414508.2_Missense_Mutation_p.T18M|TBXAS1_ENST00000458722.1_Missense_Mutation_p.T17M|TBXAS1_ENST00000448866.1_Missense_Mutation_p.T17M|TBXAS1_ENST00000436047.2_Missense_Mutation_p.T18M|TBXAS1_ENST00000336425.5_Missense_Mutation_p.T17M			P24557	THAS_HUMAN	thromboxane A synthase 1 (platelet)	17					arachidonic acid metabolic process (GO:0019369)|cellular chloride ion homeostasis (GO:0030644)|cyclooxygenase pathway (GO:0019371)|icosanoid metabolic process (GO:0006690)|positive regulation of vasoconstriction (GO:0045907)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen (GO:0016705)|thromboxane-A synthase activity (GO:0004796)			breast(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	28	Melanoma(164;0.0142)				Ridogrel(DB01207)|Sulfasalazine(DB00795)	CCCATGGTGACGGTGGCCCTG	0.572																																						ENST00000263552.6																			0				breast(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	28						c.(52-54)aCg>aTg		thromboxane A synthase 1 (platelet)		C	MET/THR,MET/THR,MET/THR,,MET/THR	7,4399	12.9+/-30.5	0,7,2196	72	64	66		53,53,53,,53	2.4	0.4	7	dbSNP_129	66	0,8600		0,0,4300	yes	missense,missense,missense,intron,missense	TBXAS1	NM_001061.4,NM_001130966.2,NM_001166253.1,NM_001166254.1,NM_030984.3	81,81,81,,81	0,7,6496	TT,TC,CC		0.0,0.1589,0.0538	benign,benign,benign,,benign	18/535,18/535,18/581,,18/461	139529239	7,12999	2203	4300	6503	SO:0001583	missense	6916				hormone biosynthetic process|prostaglandin biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|thromboxane-A synthase activity	g.chr7:139529239C>T	L36085	CCDS5855.1, CCDS5856.1, CCDS55174.1, CCDS55175.1	7q34-q35	2014-09-17	2008-07-31		ENSG00000059377	ENSG00000059377	5.3.99.5	"Cytochrome P450s"	11609	protein-coding gene	gene with protein product	"cytochrome P450, family 5, subfamily A, polypeptide 1"	274180	"thromboxane A synthase 1 (platelet, cytochrome P450, subfamily V)"			1714723, 8964509	Standard	NM_001061		Approved	CYP5, CYP5A1, THAS, TXS, TXAS, TS	uc011kqv.2	P24557	OTTHUMG00000157302	ENST00000455353.1:c.50C>T	7.37:g.139529239C>T	ENSP00000391567:p.Thr17Met					TBXAS1_ENST00000411653.1_Missense_Mutation_p.T17M|TBXAS1_ENST00000425687.1_Intron|TBXAS1_ENST00000539806.1_Missense_Mutation_p.T18M|TBXAS1_ENST00000436047.2_Missense_Mutation_p.T18M|TBXAS1_ENST00000458722.1_Missense_Mutation_p.T17M|TBXAS1_ENST00000414508.2_Missense_Mutation_p.T18M|TBXAS1_ENST00000336425.5_Missense_Mutation_p.T17M|TBXAS1_ENST00000462275.1_3'UTR|TBXAS1_ENST00000455353.1_Missense_Mutation_p.T17M|TBXAS1_ENST00000448866.1_Missense_Mutation_p.T17M|TBXAS1_ENST00000416849.2_Missense_Mutation_p.T18M	p.T18M	NM_001130966.2	NP_001124438.1	P24557	THAS_HUMAN			5	591	+	Melanoma(164;0.0142)		17					B4DJG6|E7EMU9|E7EP08|E7ESB5|O14987|Q16843|Q16844|Q8IUN1|Q96CN2|Q9GZW4|Q9HD77|Q9HD78|Q9HD79|Q9HD80|Q9HD81|Q9HD82|Q9HD83|Q9HD84	Missense_Mutation	SNP	ENST00000455353.1	37	c.53C>T		.	.	.	.	.	.	.	.	.	.	C	5.672	0.308614	0.10733	0.001589	0.0	ENSG00000059377	ENST00000263552;ENST00000438104;ENST00000336425;ENST00000416849;ENST00000436047;ENST00000414508;ENST00000448866;ENST00000455353;ENST00000458722;ENST00000411653;ENST00000539806	T;T;T;T;T;T;T;T;T;T;T	0.34667	1.35;1.35;1.35;1.35;1.35;1.35;1.35;1.35;1.35;1.35;1.35	5.17	2.41	0.29592	.	0.181999	0.46758	N	0.000278	T	0.15219	0.0367	N	0.14661	0.345	0.29217	N	0.87416	P;B;B;B;B;B	0.41848	0.763;0.05;0.009;0.081;0.25;0.25	B;B;B;B;B;B	0.28638	0.092;0.01;0.003;0.013;0.064;0.064	T	0.10042	-1.0647	10	0.46703	T	0.11	.	7.5495	0.27788	0.0:0.7349:0.0:0.2651	rs61733586	18;18;18;18;18;17	B7Z6W1;E7EP08;B4E0M5;E7EMU9;Q53F23;P24557	.;.;.;.;.;THAS_HUMAN	M	18;17;17;18;18;18;17;17;17;17;18	ENSP00000263552:T18M;ENSP00000388612:T17M;ENSP00000338087:T17M;ENSP00000389414:T18M;ENSP00000392361:T18M;ENSP00000392702:T18M;ENSP00000402536:T17M;ENSP00000391567:T17M;ENSP00000411274:T17M;ENSP00000411326:T17M;ENSP00000444626:T18M	ENSP00000263552:T18M	T	+	2	0	TBXAS1	139175708	0.175000	0.23083	0.362000	0.25862	0.167000	0.22549	0.399000	0.20916	0.344000	0.23847	-0.827000	0.03088	ACG		0.572	TBXAS1-008	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000348380.1			13	9	0	0	0	1	0	13	9					T	139529239	C	T	139529239	3	4	435	1	0	0	0	0	1	0	0	0	15661	536	19	1	55	1	TBXAS1	7	139529239	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	271178	139529239	19609424	3829	24754											
PARP12	64761	broad.mit.edu	37	chr7	139724415	139724415	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcaggatggagggtgtgaccGagggcttggaggaggtggtg	7	7	23	4	1	0	1	0	1	0	0	0	6	0	5	1	8	0	2	1	8	0	1	rs373376223		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:139724415G>A	ENST00000263549.3	-	12	2924	c.2051C>T	c.(2050-2052)tCg>tTg	p.S684L		NM_022750.2	NP_073587.1	Q9H0J9	PAR12_HUMAN	poly (ADP-ribose) polymerase family, member 12	684	PARP catalytic. {ECO:0000255|PROSITE- ProRule:PRU00397}.					nucleus (GO:0005634)	metal ion binding (GO:0046872)|NAD+ ADP-ribosyltransferase activity (GO:0003950)|poly(A) RNA binding (GO:0044822)			endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(1)	19	Melanoma(164;0.0142)					GGGTGTGACCGAGGGCTTGGA	0.562																																						ENST00000263549.3																			0				endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(1)	19						c.(2050-2052)tCg>tTg		poly (ADP-ribose) polymerase family, member 12		G	LEU/SER	0,4406		0,0,2203	147	117	127		2051	-0.6	0	7		127	1,8599	1.2+/-3.3	0,1,4299	no	missense	PARP12	NM_022750.2	145	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	684/702	139724415	1,13005	2203	4300	6503	SO:0001583	missense	64761					nucleus	NAD+ ADP-ribosyltransferase activity|nucleic acid binding|zinc ion binding	g.chr7:139724415G>A	AL136766	CCDS5857.1	7q34	2014-01-28	2005-06-02	2005-06-02	ENSG00000059378	ENSG00000059378		"Zinc fingers, CCCH-type domain containing", "Poly (ADP-ribose) polymerases"	21919	protein-coding gene	gene with protein product		612481	"zinc finger CCCH-type domain containing 1"	ZC3HDC1		11230166, 12851707	Standard	NM_022750		Approved	FLJ22693, PARP-12, ZC3H1	uc003vvl.1	Q9H0J9	OTTHUMG00000157315	ENST00000263549.3:c.2051C>T	7.37:g.139724415G>A	ENSP00000263549:p.Ser684Leu						p.S684L	NM_022750.2	NP_073587.1	Q9H0J9	PAR12_HUMAN			12	2924	-	Melanoma(164;0.0142)		684			PARP catalytic.		Q9H610|Q9NP36|Q9NTI3	Missense_Mutation	SNP	ENST00000263549.3	37	c.2051C>T	CCDS5857.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	10.55|10.55	1.380375|1.380375	0.24944|0.24944	0.0|0.0	1.16E-4|1.16E-4	ENSG00000059378|ENSG00000059378	ENST00000541746|ENST00000263549	.|T	.|0.06528	.|3.29	4.67|4.67	-0.586|-0.586	0.11694|0.11694	.|Poly(ADP-ribose) polymerase, catalytic domain (1);	.|2.661690	.|0.01447	.|N	.|0.015335	T|T	0.04588|0.04588	0.0125|0.0125	N|N	0.17082|0.17082	0.46|0.46	0.09310|0.09310	N|N	1|1	.|B	.|0.13145	.|0.007	.|B	.|0.06405	.|0.002	T|T	0.37641|0.37641	-0.9697|-0.9697	6|10	0.42905|0.28530	T|T	0.14|0.3	.|.	4.5723|4.5723	0.12216|0.12216	0.425:0.0:0.4305:0.1445|0.425:0.0:0.4305:0.1445	.|.	.|684	.|Q9H0J9	.|PAR12_HUMAN	W|L	68|684	.|ENSP00000263549:S684L	ENSP00000445106:R68W|ENSP00000263549:S684L	R|S	-|-	1|2	2|0	PARP12|PARP12	139370884|139370884	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.036000|0.036000	0.12997|0.12997	-1.087000|-1.087000	0.03383|0.03383	-0.372000|-0.372000	0.07992|0.07992	0.655000|0.655000	0.94253|0.94253	CGG|TCG		0.562	PARP12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348413.1	NM_022750		4	24	0	0	0	1	0	4	24					A	139724415	G	A	139724415	3	1	435	1	0	0	0	0	1	0	0	0	11457	1059	37	2	58	2	PARP12	7	139724415	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	195176	139724415	19414248	3830	24755											
PARP12	64761	broad.mit.edu	37	chr7	139724618	139724618	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agcacccgggccaggaacatCgtgtgggtctgcgtgtcgga	7	7	16	11	4	1	0	0	0	1	0	3	2	1	2	2	4	3	1	2	4	1	0	rs375746909		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:139724618C>T	ENST00000263549.3	-	12	2721	c.1848G>A	c.(1846-1848)acG>acA	p.T616T		NM_022750.2	NP_073587.1	Q9H0J9	PAR12_HUMAN	poly (ADP-ribose) polymerase family, member 12	616	PARP catalytic. {ECO:0000255|PROSITE- ProRule:PRU00397}.					nucleus (GO:0005634)	metal ion binding (GO:0046872)|NAD+ ADP-ribosyltransferase activity (GO:0003950)|poly(A) RNA binding (GO:0044822)	p.T616T(1)		endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(1)	19	Melanoma(164;0.0142)					CCAGGAACATCGTGTGGGTCT	0.597																																						ENST00000263549.3																			1	Substitution - coding silent(1)	p.T616T(1)	skin(1)	endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(1)	19						c.(1846-1848)acG>acA		poly (ADP-ribose) polymerase family, member 12		T		1,4405	2.1+/-5.4	0,1,2202	82	66	71		1848	-10.4	0	7		71	0,8600		0,0,4300	no	coding-synonymous	PARP12	NM_022750.2		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		616/702	139724618	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	64761					nucleus	NAD+ ADP-ribosyltransferase activity|nucleic acid binding|zinc ion binding	g.chr7:139724618C>T	AL136766	CCDS5857.1	7q34	2014-01-28	2005-06-02	2005-06-02	ENSG00000059378	ENSG00000059378		"Zinc fingers, CCCH-type domain containing", "Poly (ADP-ribose) polymerases"	21919	protein-coding gene	gene with protein product		612481	"zinc finger CCCH-type domain containing 1"	ZC3HDC1		11230166, 12851707	Standard	NM_022750		Approved	FLJ22693, PARP-12, ZC3H1	uc003vvl.1	Q9H0J9	OTTHUMG00000157315	ENST00000263549.3:c.1848G>A	7.37:g.139724618C>T							p.T616T	NM_022750.2	NP_073587.1	Q9H0J9	PAR12_HUMAN			12	2721	-	Melanoma(164;0.0142)		616			PARP catalytic.		Q9H610|Q9NP36|Q9NTI3	Silent	SNP	ENST00000263549.3	37	c.1848G>A	CCDS5857.1																																																																																				0.597	PARP12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348413.1	NM_022750		13	18	0	0	0	1	0	13	18					T	139724618	C	T	139724618	2	4	435	1	0	0	0	0	0	0	0	1	11457	871	31	2		2	PARP12	7	139724618	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	203	139724618	19414045	3831	24756											
JHDM1D	80853	broad.mit.edu	37	chr7	139838977	139838977	+	Frame_Shift_Del	DEL	C	C	-																															gtcaacagcatgatgttcttCtactccaacacagctaagac																										TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:139838977delC	ENST00000397560.2	-	2	305	c.208delG	c.(208-210)gaafs	p.E71fs	JHDM1D_ENST00000006967.5_Frame_Shift_Del_p.E71fs	NM_030647.1	NP_085150.1	Q6ZMT4	KDM7A_HUMAN		71					histone H3-K27 demethylation (GO:0071557)|histone H3-K36 demethylation (GO:0070544)|histone H3-K9 demethylation (GO:0033169)|histone H4-K20 demethylation (GO:0035574)|midbrain development (GO:0030901)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|nucleus (GO:0005634)	histone demethylase activity (H3-K27 specific) (GO:0071558)|histone demethylase activity (H3-K36 specific) (GO:0051864)|histone demethylase activity (H3-K9 specific) (GO:0032454)|histone demethylase activity (H4-K20 specific) (GO:0035575)|iron ion binding (GO:0005506)|methylated histone binding (GO:0035064)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|zinc ion binding (GO:0008270)			central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1)	22	Melanoma(164;0.0142)					TGATGTTCTTCTACTCCAACA	0.363																																						ENST00000397560.2																			0				central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1)	22						c.(208-210)aafs									139	130	133					7																	139838977		1932	4143	6075	SO:0001589	frameshift_variant	0				midbrain development|transcription, DNA-dependent	nucleolus	histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding	g.chr7:139838977delC																												ENST00000397560.2:c.208delG	7.37:g.139838977delC	ENSP00000380692:p.Glu71fs					JHDM1D_ENST00000006967.5_Frame_Shift_Del_p.E71fs	p.E71fs	NM_030647.1	NP_085150.1	Q6ZMT4	KDM7_HUMAN			2	305	-	Melanoma(164;0.0142)		71					A4D1S9|C9JJH9|C9JQU2|Q6MZL8|Q9C0E5	Frame_Shift_Del	DEL	ENST00000397560.2	37	c.208delG	CCDS43658.1																																																																																				0.363	JHDM1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348460.1			38	85						38	85	---	---	---	---	-	139838977	C	-	139838977	7	5	435	1	0	1	0	1	0	0	0	0	7948	922	32	0	2693	0	JHDM1D	7	139838977	Frame_Shift_Del	DEL	C	TCGA-XK-AAIW-01A-11D-A41K-08	114359	139838977	19299686	3832	24757											
RAB19	401409	broad.mit.edu	37	chr7	140111851	140111851	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctgcaaatgtggtcattatgCtgattggtatggcatttttg	8	17	11	5	0	1	1	1	1	0	0	1	1	1	1	0	3	2	4	0	3	3	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:140111851C>A	ENST00000356407.3	+	2	447	c.379C>A	c.(379-381)Ctg>Atg	p.L127M	RAB19_ENST00000275874.5_Missense_Mutation_p.L174M|RAB19_ENST00000537763.1_Missense_Mutation_p.L127M			A4D1S5	RAB19_HUMAN	RAB19, member RAS oncogene family	127					protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)			breast(3)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)	9	Melanoma(164;0.0142)					GGTCATTATGCTGATTGGTAT	0.428																																						ENST00000275874.5																			0				breast(3)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)	9						c.(520-522)Ctg>Atg		RAB19, member RAS oncogene family							183	164	170					7																	140111851		2203	4300	6503	SO:0001583	missense	401409				protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding	g.chr7:140111851C>A		CCDS34762.1, CCDS34762.2	7q34	2014-05-09			ENSG00000146955	ENSG00000146955		"RAB, member RAS oncogene"	19982	protein-coding gene	gene with protein product							Standard	NM_001008749		Approved	RAB19B	uc010lni.2	A4D1S5	OTTHUMG00000157410	ENST00000356407.3:c.379C>A	7.37:g.140111851C>A	ENSP00000348778:p.Leu127Met					RAB19_ENST00000356407.3_Missense_Mutation_p.L127M|RAB19_ENST00000537763.1_Missense_Mutation_p.L127M	p.L174M			A4D1S5	RAB19_HUMAN			4	718	+	Melanoma(164;0.0142)		127					A4D1S6|B2RTS6|B5MDR2|Q9UL27	Missense_Mutation	SNP	ENST00000356407.3	37	c.520C>A	CCDS34762.2	.	.	.	.	.	.	.	.	.	.	C	12.58	1.981893	0.34942	.	.	ENSG00000146955	ENST00000495590;ENST00000275874;ENST00000537763;ENST00000356407	D;D;D;D	0.85411	-1.98;-1.98;-1.98;-1.98	5.56	4.68	0.58851	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.92645	0.7663	M	0.90705	3.14	0.58432	D	0.999998	D	0.89917	1.0	D	0.81914	0.995	D	0.93048	0.6463	10	0.87932	D	0	.	9.8847	0.41255	0.0:0.827:0.0:0.173	.	127	A4D1S5	RAB19_HUMAN	M	127;174;127;127	ENSP00000420782:L127M;ENSP00000275874:L174M;ENSP00000440167:L127M;ENSP00000348778:L127M	ENSP00000275874:L174M	L	+	1	2	RAB19	139758320	1.000000	0.71417	1.000000	0.80357	0.046000	0.14306	3.015000	0.49599	1.340000	0.45581	0.543000	0.68304	CTG		0.428	RAB19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348740.1			46	101	1	0	7.77092e-38	1	8.72875e-38	46	101					A	140111851	C	A	140111851	3	1	435	1	0	0	0	0	1	0	0	0	12904	796	28	5	385	5	RAB19	7	140111851	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	272874	140111851	19026812	3833	24758											
DENND2A	27147	broad.mit.edu	37	chr7	140301970	140301970	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcctctccaccgtagaggaCggcagataatcctcctgtcc	8	9	8	16	2	1	2	0	0	1	2	6	3	5	3	6	2	0	2	6	2	2	2	rs201482531		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:140301970C>T	ENST00000275884.6	-	2	645	c.228G>A	c.(226-228)ccG>ccA	p.P76P	DENND2A_ENST00000537639.1_Silent_p.P76P|DENND2A_ENST00000492720.1_Silent_p.P76P|DENND2A_ENST00000496613.1_Silent_p.P76P			Q9ULE3	DEN2A_HUMAN	DENN/MADD domain containing 2A	76					positive regulation of Rab GTPase activity (GO:0032851)|protein transport (GO:0015031)|retrograde transport, endosome to Golgi (GO:0042147)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(22)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49	Melanoma(164;0.00956)					CCGTAGAGGACGGCAGATAAT	0.532													C|||	1	0.000199681	8e-04	0	5008	,	,		20758	0		0	False		,,,				2504	0					ENST00000275884.6																			0				breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(22)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49						c.(226-228)ccG>ccA		DENN/MADD domain containing 2A							164	159	160					7																	140301970		1991	4177	6168	SO:0001819	synonymous_variant	27147							g.chr7:140301970C>T	AB033103	CCDS43659.1	7q34	2012-10-03	2005-08-17	2005-08-17	ENSG00000146966	ENSG00000146966		"DENN/MADD domain containing"	22212	protein-coding gene	gene with protein product			"KIAA1277"	KIAA1277			Standard	NM_015689		Approved	FAM31D	uc010lnj.3	Q9ULE3	OTTHUMG00000157411	ENST00000275884.6:c.228G>A	7.37:g.140301970C>T						DENND2A_ENST00000537639.1_Silent_p.P76P|DENND2A_ENST00000492720.1_Silent_p.P76P|DENND2A_ENST00000496613.1_Silent_p.P76P	p.P76P			Q9ULE3	DEN2A_HUMAN			2	645	-	Melanoma(164;0.00956)		76					C9JUI3|Q1RMD5|Q86XY0	Silent	SNP	ENST00000275884.6	37	c.228G>A	CCDS43659.1																																																																																				0.532	DENND2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348742.1	NM_015689		15	71	0	0	0	1	0	15	71					T	140301970	C	T	140301970	2	4	435	1	0	0	0	0	0	0	0	1	4429	523	19	1		1	DENND2A	7	140301970	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	190119	140301970	18836693	3834	24759											
ADCK2	90956	broad.mit.edu	37	chr7	140373595	140373595	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggccagtgggccagcacccgGcgcgatctgttttcggaggc	5	7	16	13	4	1	0	0	0	1	0	2	2	1	1	3	5	1	2	3	5	0	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:140373595G>A	ENST00000072869.4	+	1	643	c.465G>A	c.(463-465)cgG>cgA	p.R155R	ADCK2_ENST00000476491.1_Silent_p.R155R	NM_052853.3	NP_443085.2	Q7Z695	ADCK2_HUMAN	aarF domain containing kinase 2	155						integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			cervix(1)|kidney(2)|large_intestine(2)|lung(5)|prostate(1)|skin(4)	15	Melanoma(164;0.00956)					CCAGCACCCGGCGCGATCTGT	0.617																																						ENST00000072869.4																			0				cervix(1)|kidney(2)|large_intestine(2)|lung(5)|prostate(1)|skin(4)	15						c.(463-465)cgG>cgA		aarF domain containing kinase 2							51	58	56					7																	140373595		2203	4300	6503	SO:0001819	synonymous_variant	90956					integral to membrane	ATP binding|protein serine/threonine kinase activity	g.chr7:140373595G>A	AF131745	CCDS5861.1	7q34	2003-07-21			ENSG00000133597	ENSG00000133597			19039	protein-coding gene	gene with protein product							Standard	NM_052853		Approved	MGC20727	uc003vvy.1	Q7Z695	OTTHUMG00000157409	ENST00000072869.4:c.465G>A	7.37:g.140373595G>A						ADCK2_ENST00000476491.1_Silent_p.R155R	p.R155R	NM_052853.3	NP_443085.2	Q7Z695	ADCK2_HUMAN			1	643	+	Melanoma(164;0.00956)		155					Q96CN6|Q9Y6T5	Silent	SNP	ENST00000072869.4	37	c.465G>A	CCDS5861.1																																																																																				0.617	ADCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348734.1	NM_052853		21	42	0	0	0	1	0	21	42					A	140373595	G	A	140373595	2	1	435	1	0	0	0	0	0	0	0	1	289	1190	42	3		3	ADCK2	7	140373595	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	71625	140373595	18765068	3835	24760											
WEE2	494551	broad.mit.edu	37	chr7	141427171	141427171	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggccagaaatacagttctccGgccttccctgggaaaaacag	12	7	10	12	1	1	1	0	0	1	1	3	2	2	2	4	3	2	1	4	3	4	3	rs184712220		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:141427171G>A	ENST00000397541.2	+	10	1866	c.1460G>A	c.(1459-1461)cGg>cAg	p.R487Q	WEE2-AS1_ENST00000459753.1_RNA|WEE2-AS1_ENST00000465110.1_RNA|WEE2-AS1_ENST00000495800.1_RNA|WEE2-AS1_ENST00000488785.1_RNA|RNU1-82P_ENST00000390851.1_RNA|WEE2-AS1_ENST00000471512.1_RNA|WEE2-AS1_ENST00000484172.1_RNA|WEE2-AS1_ENST00000486906.1_RNA|WEE2-AS1_ENST00000478332.1_RNA|WEE2-AS1_ENST00000462383.1_RNA	NM_001105558.1	NP_001099028.1	P0C1S8	WEE2_HUMAN	WEE1 homolog 2 (S. pombe)	487					female meiotic division (GO:0007143)|female pronucleus assembly (GO:0035038)|mitotic nuclear division (GO:0007067)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of oocyte maturation (GO:1900194)|regulation of meiosis I (GO:0060631)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(2)|stomach(1)	31	Melanoma(164;0.0171)					ACAGTTCTCCGGCCTTCCCTG	0.473													G|||	1	0.000199681	8e-04	0	5008	,	,		17750	0		0	False		,,,				2504	0					ENST00000397541.2																			0				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(2)|stomach(1)	31						c.(1459-1461)cGg>cAg		WEE1 homolog 2 (S. pombe)		G	GLN/ARG	1,3703		0,1,1851	119	118	118		1460	5.6	0.7	7		118	0,8192		0,0,4096	no	missense	WEE2	NM_001105558.1	43	0,1,5947	AA,AG,GG		0.0,0.027,0.0084	benign	487/568	141427171	1,11895	1852	4096	5948	SO:0001583	missense	494551				egg activation|female meiosis|female pronucleus assembly|meiotic metaphase II|meiotic prophase I|mitosis|negative regulation of oocyte development|regulation of meiosis I	centrosome|nucleus	ATP binding|magnesium ion binding|non-membrane spanning protein tyrosine kinase activity|protein serine/threonine kinase activity	g.chr7:141427171G>A	AK131218	CCDS43660.1	7q32	2008-07-02			ENSG00000214102	ENSG00000214102			19684	protein-coding gene	gene with protein product		614084					Standard	NM_001105558		Approved	FLJ16107	uc003vwn.2	P0C1S8	OTTHUMG00000157536	ENST00000397541.2:c.1460G>A	7.37:g.141427171G>A	ENSP00000380675:p.Arg487Gln					WEE2-AS1_ENST00000488785.1_RNA	p.R487Q	NM_001105558.1	NP_001099028.1	P0C1S8	WEE2_HUMAN			10	1866	+	Melanoma(164;0.0171)		487						Missense_Mutation	SNP	ENST00000397541.2	37	c.1460G>A	CCDS43660.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	11.87	1.768079	0.31320	2.7E-4	0.0	ENSG00000214102	ENST00000397541	T	0.39406	1.08	5.6	5.6	0.85130	Protein kinase-like domain (1);	0.269957	0.29972	U	0.010737	T	0.41789	0.1174	M	0.64997	1.995	0.30742	N	0.746093	B	0.26041	0.14	B	0.17433	0.018	T	0.42361	-0.9456	10	0.11794	T	0.64	.	19.9823	0.97331	0.0:0.0:1.0:0.0	.	487	P0C1S8	WEE2_HUMAN	Q	487	ENSP00000380675:R487Q	ENSP00000380675:R487Q	R	+	2	0	WEE2	141073640	0.998000	0.40836	0.713000	0.30519	0.072000	0.16883	8.097000	0.89539	2.788000	0.95919	0.650000	0.86243	CGG		0.473	WEE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349091.1	NM_001105558		55	72	0	0	0	1	0	55	72					A	141427171	G	A	141427171	3	1	435	1	0	0	0	0	1	0	0	0	17342	1116	39	2	1498	2	WEE2	7	141427171	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	1053576	141427171	17711492	3836	24761											
TAS2R5	54429	broad.mit.edu	37	chr7	141490986	141490986	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tctctcatattgatcatgggGattcctagggtgaagcagac	10	12	11	8	0	3	3	2	2	1	1	5	4	4	4	1	3	1	1	1	3	3	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:141490986G>A	ENST00000247883.4	+	1	970	c.825G>A	c.(823-825)ggG>ggA	p.G275G		NM_018980.2	NP_061853.1	Q9NYW4	TA2R5_HUMAN	taste receptor, type 2, member 5	275					chemosensory behavior (GO:0007635)|detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|sensory perception of taste (GO:0050909)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)|taste receptor activity (GO:0008527)			breast(1)|endometrium(1)|large_intestine(4)|lung(2)|skin(1)	9	Melanoma(164;0.0171)					TGATCATGGGGATTCCTAGGG	0.498																																						ENST00000247883.4																			0				breast(1)|endometrium(1)|large_intestine(4)|lung(2)|skin(1)	9						c.(823-825)ggG>ggA		taste receptor, type 2, member 5							131	132	132					7																	141490986		2203	4300	6503	SO:0001819	synonymous_variant	54429				chemosensory behavior|sensory perception of taste		taste receptor activity	g.chr7:141490986G>A	AF227132	CCDS5869.1	7q31.3-q32	2012-08-22			ENSG00000127366	ENSG00000127366		"Taste receptors / Type 2", "GPCR / Unclassified : Taste receptors"	14912	protein-coding gene	gene with protein product		605062					Standard	NM_018980		Approved	T2R5	uc003vwr.1	Q9NYW4	OTTHUMG00000157632	ENST00000247883.4:c.825G>A	7.37:g.141490986G>A							p.G275G	NM_018980.2	NP_061853.1	Q9NYW4	TA2R5_HUMAN			1	970	+	Melanoma(164;0.0171)		275					Q645W0|Q75MV7	Silent	SNP	ENST00000247883.4	37	c.825G>A	CCDS5869.1																																																																																				0.498	TAS2R5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349283.1			26	64	0	0	0	1	0	26	64					A	141490986	G	A	141490986	2	1	435	1	0	0	0	0	0	0	0	1	15580	1161	41	3		3	TAS2R5	7	141490986	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	63815	141490986	17647677	3837	24762											
OR9A4	130075	broad.mit.edu	37	chr7	141619474	141619474	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tgaaacccaagcaaacgcagGcagctgattacaattgggta	15	7	10	9	1	0	2	0	2	0	0	0	2	0	2	1	2	5	5	1	2	6	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:141619474G>A	ENST00000548136.1	+	1	858	c.799G>A	c.(799-801)Gca>Aca	p.A267T	MGAM_ENST00000497554.1_Intron	NM_001001656.1	NP_001001656.1	Q8NGU2	OR9A4_HUMAN	olfactory receptor, family 9, subfamily A, member 4	267						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(2)|large_intestine(9)|lung(7)|prostate(1)|skin(2)	22	Melanoma(164;0.0171)					GCAAACGCAGGCAGCTGATTA	0.483																																						ENST00000548136.1																			0				NS(1)|endometrium(2)|large_intestine(9)|lung(7)|prostate(1)|skin(2)	22						c.(799-801)Gca>Aca		olfactory receptor, family 9, subfamily A, member 4							74	78	77					7																	141619474		2202	4300	6502	SO:0001583	missense	130075				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr7:141619474G>A		CCDS43661.1	7q34	2012-10-03			ENSG00000258083	ENSG00000258083		"GPCR / Class A : Olfactory receptors"	15095	protein-coding gene	gene with protein product							Standard	NM_001001656		Approved		uc003vwu.1	Q8NGU2	OTTHUMG00000158370	ENST00000548136.1:c.799G>A	7.37:g.141619474G>A	ENSP00000448789:p.Ala267Thr					MGAM_ENST00000497554.1_Intron	p.A267T	NM_001001656.1	NP_001001656.1	Q8NGU2	OR9A4_HUMAN			1	858	+	Melanoma(164;0.0171)		267					B9EGV6|Q6IFI4	Missense_Mutation	SNP	ENST00000548136.1	37	c.799G>A	CCDS43661.1	.	.	.	.	.	.	.	.	.	.	G	10.66	1.413630	0.25465	.	.	ENSG00000258083	ENST00000548136	T	0.00145	8.67	3.8	3.8	0.43715	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00144	0.0004	L	0.41710	1.295	0.09310	N	1	B	0.21452	0.056	B	0.29267	0.1	T	0.12889	-1.0530	9	0.18276	T	0.48	-8.9754	7.4075	0.27000	0.1188:0.0:0.8812:0.0	.	267	Q8NGU2	OR9A4_HUMAN	T	267	ENSP00000448789:A267T	ENSP00000386148:A267T	A	+	1	0	OR9A4	141265943	0.000000	0.05858	0.907000	0.35723	0.085000	0.17905	-0.402000	0.07223	2.121000	0.65114	0.655000	0.94253	GCA		0.483	OR9A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350806.3	NM_001001656		20	29	0	0	0	1	0	20	29					A	141619474	G	A	141619474	3	1	435	1	0	0	0	0	1	0	0	0	11249	1203	42	3	801	3	OR9A4	7	141619474	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	128488	141619474	17519189	3838	24763											
MGAM	8972	broad.mit.edu	37	chr7	141750044	141750044	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctcactttcagatactgtggCcaataaagtgtatcttttat	11	16	6	8	0	3	1	2	0	1	1	3	1	3	1	1	1	1	1	1	1	6	6			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:141750044C>T	ENST00000549489.2	+	23	2692	c.2597C>T	c.(2596-2598)gCc>gTc	p.A866V	MGAM_ENST00000475668.2_Missense_Mutation_p.A866V	NM_004668.2	NP_004659.2	O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	866	Maltase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	GATACTGTGGCCAATAAAGTG	0.423																																						ENST00000475668.2																			0				cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13						c.(2596-2598)gCc>gTc		maltase-glucoamylase (alpha-glucosidase)	Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)						301	277	284					7																	141750044		1886	4117	6003	SO:0001583	missense	8972				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity	g.chr7:141750044C>T	AF016833	CCDS47727.1	7q34	2012-10-03			ENSG00000257335	ENSG00000257335			7043	protein-coding gene	gene with protein product		154360				9446624	Standard	NM_004668		Approved	MGA	uc003vwy.3	O43451	OTTHUMG00000158395	ENST00000549489.2:c.2597C>T	7.37:g.141750044C>T	ENSP00000447378:p.Ala866Val					MGAM_ENST00000549489.2_Missense_Mutation_p.A866V	p.A866V			O43451	MGA_HUMAN			23	2651	+	Melanoma(164;0.0272)		866			Maltase.		Q0VAX6|Q75ME7|Q86UM5	Missense_Mutation	SNP	ENST00000549489.2	37	c.2597C>T	CCDS47727.1	.	.	.	.	.	.	.	.	.	.	C	12.12	1.843892	0.32606	.	.	ENSG00000257335	ENST00000549489;ENST00000475668;ENST00000548812	D	0.89343	-2.5	5.38	3.51	0.40186	.	0.558091	0.16242	N	0.223090	D	0.82898	0.5137	L	0.43152	1.355	0.09310	N	1	B	0.19817	0.039	B	0.12156	0.007	T	0.73739	-0.3888	10	0.52906	T	0.07	.	7.3244	0.26547	0.3495:0.5689:0.0:0.0816	.	866	O43451	MGA_HUMAN	V	866;866;743	ENSP00000447378:A866V	ENSP00000316431:A743V	A	+	2	0	MGAM	141396513	0.226000	0.23696	0.377000	0.26055	0.808000	0.45660	0.450000	0.21762	1.280000	0.44463	0.563000	0.77884	GCC		0.423	MGAM-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000351244.3			18	54	0	0	0	1	0	18	54					T	141750044	C	T	141750044	3	4	435	1	0	0	0	0	1	0	0	0	9541	739	26	3	2683	3	MGAM	7	141750044	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	130570	141750044	17388619	3839	24764											
TRYX3	136541	broad.mit.edu	37	chr7	141954939	141954939	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gtattttcagagatagtttgGtagggcaggttggctaattt	9	16	13	3	0	1	1	1	0	0	1	1	2	1	1	0	4	0	6	0	4	4	9			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:141954939G>A	ENST00000552471.1	-	3	691	c.372C>T	c.(370-372)taC>taT	p.Y124Y	PRSS58_ENST00000547058.2_Silent_p.Y124Y			Q8IYP2	PRS58_HUMAN	protease, serine, 58	124	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)			kidney(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(2)|skin(2)	19						AGATAGTTTGGTAGGGCAGGT	0.403																																						ENST00000552471.1																			0				kidney(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(2)|skin(2)	19						c.(370-372)taC>taT		protease, serine, 58							256	231	240					7																	141954939		2203	4300	6503	SO:0001819	synonymous_variant	136541				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr7:141954939G>A		CCDS5871.1	7q34	2012-10-03			ENSG00000258223	ENSG00000258223	3.4.21.4	"Serine peptidases / Serine peptidases"	39125	protein-coding gene	gene with protein product	"trypsin X3"						Standard	NM_001001317		Approved	TRYX3	uc003vxc.4	Q8IYP2	OTTHUMG00000158565	ENST00000552471.1:c.372C>T	7.37:g.141954939G>A						PRSS58_ENST00000547058.2_Silent_p.Y124Y	p.Y124Y			Q8IYP2	PRS58_HUMAN			3	691	-			124			Peptidase S1.		B3KVJ6|D3DXD2	Silent	SNP	ENST00000552471.1	37	c.372C>T	CCDS5871.1																																																																																				0.403	PRSS58-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351328.2	NM_001001317		29	97	0	0	0	1	0	29	97					A	141954939	G	A	141954939	2	1	435	1	0	0	0	0	0	0	0	1	16601	1256	44	3		3	TRYX3	7	141954939	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	204895	141954939	17183724	3840	24765											
PRSS1	5644	broad.mit.edu	37	chr7	142459692	142459692	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggaatgagcagttcatcaatGcagccaagatcatccgccac	13	7	9	12	1	3	2	3	1	0	1	4	3	4	3	3	1	3	3	3	1	3	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:142459692G>A	ENST00000311737.7	+	3	274	c.268G>A	c.(268-270)Gca>Aca	p.A90T	PRSS1_ENST00000486171.1_Missense_Mutation_p.A104T	NM_002769.4	NP_002760.1	P07477	TRY1_HUMAN	protease, serine, 1 (trypsin 1)	90	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				cobalamin metabolic process (GO:0009235)|digestion (GO:0007586)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(24)|prostate(2)	38	Melanoma(164;0.047)	all_cancers(3;2.14e-49)|Acute lymphoblastic leukemia(3;7.3e-185)|all_hematologic(3;1.1e-165)	all cancers(2;0.000126)|Colorectal(2;0.000157)|Epithelial(2;0.000191)|COAD - Colon adenocarcinoma(2;0.00189)		Aprotinin(DB06692)	GTTCATCAATGCAGCCAAGAT	0.537																																						ENST00000486171.1																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(24)|prostate(2)	38						c.(310-312)Gca>Aca		protease, serine, 1 (trypsin 1)							235	219	224					7																	142459692		2203	4300	6503	SO:0001583	missense	5644				digestion|proteolysis	extracellular space	metal ion binding|protein binding|serine-type endopeptidase activity	g.chr7:142459692G>A	M22612	CCDS5872.1	7q34	2012-10-02			ENSG00000204983	ENSG00000204983	3.4.21.4	"Serine peptidases / Serine peptidases"	9475	protein-coding gene	gene with protein product		276000		TRY1			Standard	NM_002769		Approved		uc003wak.2	P07477	OTTHUMG00000158923	ENST00000311737.7:c.268G>A	7.37:g.142459692G>A	ENSP00000308720:p.Ala90Thr					PRSS1_ENST00000311737.7_Missense_Mutation_p.A90T	p.A104T			P07477	TRY1_HUMAN	all cancers(2;0.000126)|Colorectal(2;0.000157)|Epithelial(2;0.000191)|COAD - Colon adenocarcinoma(2;0.00189)		4	327	+	Melanoma(164;0.047)	all_cancers(3;2.14e-49)|Acute lymphoblastic leukemia(3;7.3e-185)|all_hematologic(3;1.1e-165)	90		L -> P (in PCTT).	Peptidase S1.		A1A509|A6NJ71|B2R5I5|Q5NV57|Q7M4N3|Q7M4N4|Q92955|Q9HAN4|Q9HAN5|Q9HAN6|Q9HAN7	Missense_Mutation	SNP	ENST00000311737.7	37	c.310G>A	CCDS5872.1	.	.	.	.	.	.	.	.	.	.	G	1.085	-0.665869	0.03428	.	.	ENSG00000204983	ENST00000486171;ENST00000311737;ENST00000529243;ENST00000492062	D;D;D	0.92965	-3.14;-3.14;-1.52	3.28	-6.56	0.01848	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.453511	0.27604	N	0.018628	D	0.86594	0.5970	L	0.38953	1.18	0.09310	N	1	P;B	0.35600	0.511;0.359	B;B	0.43123	0.409;0.319	T	0.79045	-0.1964	10	0.36615	T	0.2	.	10.8918	0.47000	0.0823:0.0:0.1684:0.7493	.	104;90	E7EQ64;P07477	.;TRY1_HUMAN	T	104;90;80;40	ENSP00000417854:A104T;ENSP00000308720:A90T;ENSP00000419912:A40T	ENSP00000308720:A90T	A	+	1	0	PRSS1	142139266	0.001000	0.12720	0.000000	0.03702	0.050000	0.14768	-0.097000	0.11042	-2.633000	0.00433	-0.779000	0.03376	GCA		0.537	PRSS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352538.2			56	63	0	0	0	1	0	56	63					A	142459692	G	A	142459692	3	1	435	1	0	0	0	0	1	0	0	0	12614	1319	46	3	278	3	PRSS1	7	142459692	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	504753	142459692	16678971	3841	24766											
EPHB6	2051	broad.mit.edu	37	chr7	142562205	142562205	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctacgtggccttccaggacaCgggggcctgcctggccctgg	4	7	15	15	2	0	0	0	0	0	0	1	1	1	1	5	6	2	0	5	6	1	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:142562205C>T	ENST00000392957.2	+	7	1434	c.647C>T	c.(646-648)aCg>aTg	p.T216M	EPHB6_ENST00000411471.2_Intron|EPHB6_ENST00000442129.1_Missense_Mutation_p.T216M	NM_004445.3	NP_004436.3	O15197	EPHB6_HUMAN	EPH receptor B6	216	Eph LBD. {ECO:0000255|PROSITE- ProRule:PRU00883}.					extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|receptor activity (GO:0004872)	p.T201M(1)		NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	87	Melanoma(164;0.059)					TTCCAGGACACGGGGGCCTGC	0.657																																						ENST00000392957.2																			1	Substitution - Missense(1)	p.T201M(1)	lung(1)	NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	87						c.(646-648)aCg>aTg		EPH receptor B6							71	85	80					7																	142562205		2198	4288	6486	SO:0001583	missense	0					extracellular region|integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr7:142562205C>T	D83492	CCDS5873.2, CCDS75672.1	7q33-q35	2013-02-11	2004-10-28		ENSG00000106123	ENSG00000106123		"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3396	protein-coding gene	gene with protein product		602757	"EphB6"				Standard	XM_006715881		Approved	HEP	uc011kst.2	O15197	OTTHUMG00000155707	ENST00000392957.2:c.647C>T	7.37:g.142562205C>T	ENSP00000376684:p.Thr216Met					EPHB6_ENST00000442129.1_Missense_Mutation_p.T216M|EPHB6_ENST00000411471.2_Intron	p.T216M	NM_004445.3	NP_004436.2	O15197	EPHB6_HUMAN			7	1434	+	Melanoma(164;0.059)		216					A4D2I7|A8CDT5|D3DXD3|Q2TB23|Q2TB24	Missense_Mutation	SNP	ENST00000392957.2	37	c.647C>T	CCDS5873.2	.	.	.	.	.	.	.	.	.	.	C	17.07	3.295824	0.60086	.	.	ENSG00000106123	ENST00000392957;ENST00000442129	T;T	0.03745	3.82;3.82	6.08	5.2	0.72013	Tyrosine-protein kinase, receptor class V, conserved site (1);Ephrin receptor, ligand binding (2);Galactose-binding domain-like (1);	0.000000	0.48286	D	0.000181	T	0.08758	0.0217	L	0.28192	0.835	0.58432	D	0.999998	D	0.89917	1.0	D	0.69479	0.964	T	0.17623	-1.0363	10	0.72032	D	0.01	.	10.428	0.44389	0.0:0.8537:0.0:0.1463	.	216	O15197	EPHB6_HUMAN	M	216	ENSP00000376684:T216M;ENSP00000410789:T216M	ENSP00000376684:T216M	T	+	2	0	EPHB6	142272327	0.002000	0.14202	0.862000	0.33874	0.983000	0.72400	0.351000	0.20096	1.591000	0.50007	0.655000	0.94253	ACG		0.657	EPHB6-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341329.1			55	41	0	0	0	1	0	55	41					T	142562205	C	T	142562205	3	4	435	1	0	0	0	0	1	0	0	0	5178	536	19	1	657	1	EPHB6	7	142562205	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	102513	142562205	16576458	3842	24767											
EPHB6	2051	broad.mit.edu	37	chr7	142562420	142562420	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cccccaggctgcactgcaacGgggagggcaagtggatggta	9	5	16	11	1	0	0	0	0	0	0	0	2	0	2	2	6	3	5	2	6	3	1	rs201782375		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:142562420G>A	ENST00000392957.2	+	7	1649	c.862G>A	c.(862-864)Ggg>Agg	p.G288R	EPHB6_ENST00000411471.2_Intron|EPHB6_ENST00000442129.1_Missense_Mutation_p.G288R	NM_004445.3	NP_004436.3	O15197	EPHB6_HUMAN	EPH receptor B6	288	Cys-rich.					extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|receptor activity (GO:0004872)			NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	87	Melanoma(164;0.059)					GCACTGCAACGGGGAGGGCAA	0.667																																						ENST00000392957.2																			0				NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	87						c.(862-864)Ggg>Agg		EPH receptor B6		G	ARG/GLY	2,4302		0,2,2150	37	45	42		862	5	0.8	7		42	3,8449		0,3,4223	yes	missense	EPHB6	NM_004445.3	125	0,5,6373	AA,AG,GG		0.0355,0.0465,0.0392	probably-damaging	288/1022	142562420	5,12751	2152	4226	6378	SO:0001583	missense	0					extracellular region|integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr7:142562420G>A	D83492	CCDS5873.2, CCDS75672.1	7q33-q35	2013-02-11	2004-10-28		ENSG00000106123	ENSG00000106123		"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3396	protein-coding gene	gene with protein product		602757	"EphB6"				Standard	XM_006715881		Approved	HEP	uc011kst.2	O15197	OTTHUMG00000155707	ENST00000392957.2:c.862G>A	7.37:g.142562420G>A	ENSP00000376684:p.Gly288Arg					EPHB6_ENST00000442129.1_Missense_Mutation_p.G288R|EPHB6_ENST00000411471.2_Intron	p.G288R	NM_004445.3	NP_004436.2	O15197	EPHB6_HUMAN			7	1649	+	Melanoma(164;0.059)		288			Cys-rich.		A4D2I7|A8CDT5|D3DXD3|Q2TB23|Q2TB24	Missense_Mutation	SNP	ENST00000392957.2	37	c.862G>A	CCDS5873.2	.	.	.	.	.	.	.	.	.	.	G	22.2	4.257209	0.80246	4.65E-4	3.55E-4	ENSG00000106123	ENST00000392957;ENST00000442129	T;T	0.70749	-0.51;-0.51	5.04	5.04	0.67666	Tyrosine-protein kinase, receptor class V, conserved site (1);	0.134612	0.34200	N	0.004170	D	0.82314	0.5010	M	0.61703	1.905	0.80722	D	1	D	0.89917	1.0	D	0.72075	0.976	D	0.84068	0.0378	10	0.87932	D	0	.	17.5428	0.87853	0.0:0.0:1.0:0.0	.	288	O15197	EPHB6_HUMAN	R	288	ENSP00000376684:G288R;ENSP00000410789:G288R	ENSP00000376684:G288R	G	+	1	0	EPHB6	142272542	1.000000	0.71417	0.814000	0.32528	0.616000	0.37450	7.856000	0.86956	2.606000	0.88127	0.561000	0.74099	GGG		0.667	EPHB6-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341329.1			34	39	0	0	0	1	0	34	39					A	142562420	G	A	142562420	3	1	435	1	0	0	0	0	1	0	0	0	5178	1116	39	2	872	2	EPHB6	7	142562420	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	215	142562420	16576243	3843	24768											
EPHB6	2051	broad.mit.edu	37	chr7	142562446	142562446	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggcaagtggatggtagctgtCgggggctgccgctgccagcc	5	7	18	11	2	0	0	0	0	0	0	1	1	0	1	3	5	4	5	3	5	2	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:142562446C>T	ENST00000392957.2	+	7	1675	c.888C>T	c.(886-888)gtC>gtT	p.V296V	EPHB6_ENST00000411471.2_Silent_p.V19V|EPHB6_ENST00000442129.1_Silent_p.V296V	NM_004445.3	NP_004436.3	O15197	EPHB6_HUMAN	EPH receptor B6	296	Cys-rich.					extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|receptor activity (GO:0004872)			NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	87	Melanoma(164;0.059)					TGGTAGCTGTCGGGGGCTGCC	0.662																																						ENST00000392957.2																			0				NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	87						c.(886-888)gtC>gtT		EPH receptor B6							32	40	37					7																	142562446		2095	4163	6258	SO:0001819	synonymous_variant	0					extracellular region|integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr7:142562446C>T	D83492	CCDS5873.2, CCDS75672.1	7q33-q35	2013-02-11	2004-10-28		ENSG00000106123	ENSG00000106123		"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3396	protein-coding gene	gene with protein product		602757	"EphB6"				Standard	XM_006715881		Approved	HEP	uc011kst.2	O15197	OTTHUMG00000155707	ENST00000392957.2:c.888C>T	7.37:g.142562446C>T						EPHB6_ENST00000442129.1_Silent_p.V296V|EPHB6_ENST00000411471.2_Silent_p.V19V	p.V296V	NM_004445.3	NP_004436.2	O15197	EPHB6_HUMAN			7	1675	+	Melanoma(164;0.059)		296			Cys-rich.		A4D2I7|A8CDT5|D3DXD3|Q2TB23|Q2TB24	Silent	SNP	ENST00000392957.2	37	c.888C>T	CCDS5873.2																																																																																				0.662	EPHB6-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341329.1			22	42	0	0	0	1	0	22	42					T	142562446	C	T	142562446	2	4	435	1	0	0	0	0	0	0	0	1	5178	871	31	2		2	EPHB6	7	142562446	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	26	142562446	16576217	3844	24769											
EPHB6	2051	broad.mit.edu	37	chr7	142564789	142564789	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gctgccggccacggcccctaCgggggcaaagtctatttcca	7	7	12	15	3	1	0	0	0	1	0	2	0	2	0	5	4	2	2	5	4	3	3	rs374579925		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:142564789C>T	ENST00000392957.2	+	11	2500	c.1713C>T	c.(1711-1713)taC>taT	p.Y571Y	EPHB6_ENST00000411471.2_Silent_p.Y294Y|EPHB6_ENST00000442129.1_Silent_p.Y571Y	NM_004445.3	NP_004436.3	O15197	EPHB6_HUMAN	EPH receptor B6	571	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.					extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|receptor activity (GO:0004872)			NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	87	Melanoma(164;0.059)					ACGGCCCCTACGGGGGCAAAG	0.637																																						ENST00000392957.2																			0				NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	87						c.(1711-1713)taC>taT		EPH receptor B6		C		1,4405	2.1+/-5.4	0,1,2202	41	43	42		1713	-9.5	0.6	7		42	0,8600		0,0,4300	no	coding-synonymous	EPHB6	NM_004445.3		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		571/1022	142564789	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0					extracellular region|integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr7:142564789C>T	D83492	CCDS5873.2, CCDS75672.1	7q33-q35	2013-02-11	2004-10-28		ENSG00000106123	ENSG00000106123		"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3396	protein-coding gene	gene with protein product		602757	"EphB6"				Standard	XM_006715881		Approved	HEP	uc011kst.2	O15197	OTTHUMG00000155707	ENST00000392957.2:c.1713C>T	7.37:g.142564789C>T						EPHB6_ENST00000442129.1_Silent_p.Y571Y|EPHB6_ENST00000411471.2_Silent_p.Y294Y	p.Y571Y	NM_004445.3	NP_004436.2	O15197	EPHB6_HUMAN			11	2500	+	Melanoma(164;0.059)		571			Fibronectin type-III 2.		A4D2I7|A8CDT5|D3DXD3|Q2TB23|Q2TB24	Silent	SNP	ENST00000392957.2	37	c.1713C>T	CCDS5873.2																																																																																				0.637	EPHB6-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341329.1			17	24	0	0	0	1	0	17	24					T	142564789	C	T	142564789	2	4	435	1	0	0	0	0	0	0	0	1	5178	547	19	1		1	EPHB6	7	142564789	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	2343	142564789	16573874	3845	24770											
EPHB6	2051	broad.mit.edu	37	chr7	142568000	142568000	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tagagcaggagttccggctgCccccgcctccaggctgtcct	5	8	12	16	2	0	1	0	0	0	1	3	2	3	2	6	3	2	4	6	3	1	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:142568000C>T	ENST00000392957.2	+	18	3428	c.2641C>T	c.(2641-2643)Ccc>Tcc	p.P881S	EPHB6_ENST00000411471.2_Missense_Mutation_p.P604S|EPHB6_ENST00000476059.1_3'UTR|EPHB6_ENST00000442129.1_Missense_Mutation_p.P881S	NM_004445.3	NP_004436.3	O15197	EPHB6_HUMAN	EPH receptor B6	881	Poly-Pro.|Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.					extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|receptor activity (GO:0004872)			NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	87	Melanoma(164;0.059)					GTTCCGGCTGCCCCCGCCTCC	0.537																																						ENST00000392957.2																			0				NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	87						c.(2641-2643)Ccc>Tcc		EPH receptor B6							148	177	167					7																	142568000		2203	4300	6503	SO:0001583	missense	0					extracellular region|integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr7:142568000C>T	D83492	CCDS5873.2, CCDS75672.1	7q33-q35	2013-02-11	2004-10-28		ENSG00000106123	ENSG00000106123		"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3396	protein-coding gene	gene with protein product		602757	"EphB6"				Standard	XM_006715881		Approved	HEP	uc011kst.2	O15197	OTTHUMG00000155707	ENST00000392957.2:c.2641C>T	7.37:g.142568000C>T	ENSP00000376684:p.Pro881Ser					EPHB6_ENST00000476059.1_3'UTR|EPHB6_ENST00000442129.1_Missense_Mutation_p.P881S|EPHB6_ENST00000411471.2_Missense_Mutation_p.P604S	p.P881S	NM_004445.3	NP_004436.2	O15197	EPHB6_HUMAN			18	3428	+	Melanoma(164;0.059)		881			Poly-Pro.|Protein kinase.		A4D2I7|A8CDT5|D3DXD3|Q2TB23|Q2TB24	Missense_Mutation	SNP	ENST00000392957.2	37	c.2641C>T	CCDS5873.2	.	.	.	.	.	.	.	.	.	.	C	29.3	4.991288	0.93106	.	.	ENSG00000106123	ENST00000392957;ENST00000442129;ENST00000411471	D;D;D	0.82711	-1.64;-1.64;-1.64	5.58	5.58	0.84498	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.47852	D	0.000213	D	0.90872	0.7132	M	0.70903	2.155	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.997	D	0.91475	0.5200	10	0.87932	D	0	.	18.554	0.91077	0.0:1.0:0.0:0.0	.	881;604	O15197;O15197-2	EPHB6_HUMAN;.	S	881;881;604	ENSP00000376684:P881S;ENSP00000410789:P881S;ENSP00000409061:P604S	ENSP00000376684:P881S	P	+	1	0	EPHB6	142278122	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.629000	0.83207	2.606000	0.88127	0.655000	0.94253	CCC		0.537	EPHB6-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341329.1			65	103	0	0	0	1	0	65	103					T	142568000	C	T	142568000	3	4	435	1	0	0	0	0	1	0	0	0	5178	739	26	3	2695	3	EPHB6	7	142568000	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	3211	142568000	16570663	3846	24771											
TRPV5	56302	broad.mit.edu	37	chr7	142605796	142605796	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgactgctgctctgggacgCggtccgggacagggaggaag	7	6	19	9	3	1	1	0	1	1	0	2	5	2	5	1	5	2	2	1	5	1	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:142605796C>T	ENST00000265310.1	-	15	2422	c.2074G>A	c.(2074-2076)Gcg>Acg	p.A692T		NM_019841.4	NP_062815.2	Q9NQA5	TRPV5_HUMAN	transient receptor potential cation channel, subfamily V, member 5	692					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|ion transmembrane transport (GO:0034220)|protein tetramerization (GO:0051262)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(14)|lung(32)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	67	Melanoma(164;0.059)					CTCTGGGACGCGGTCCGGGAC	0.582																																						ENST00000265310.1																			0				NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(14)|lung(32)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	67						c.(2074-2076)Gcg>Acg		transient receptor potential cation channel, subfamily V, member 5							81	77	78					7																	142605796		2203	4300	6503	SO:0001583	missense	56302				protein tetramerization	apical plasma membrane|integral to plasma membrane	calcium channel activity	g.chr7:142605796C>T	AJ271207	CCDS5875.1	7q34	2013-01-10	2002-01-29	2002-02-01	ENSG00000127412	ENSG00000127412		"Voltage-gated ion channels / Transient receptor potential cation channels", "Ankyrin repeat domain containing"	3145	protein-coding gene	gene with protein product		606679	"epithelial calcium channel 1"	ECAC1		10944439, 10945469, 16382100	Standard	NM_019841		Approved	CaT2	uc003wby.1	Q9NQA5	OTTHUMG00000157157	ENST00000265310.1:c.2074G>A	7.37:g.142605796C>T	ENSP00000265310:p.Ala692Thr						p.A692T	NM_019841.4	NP_062815.2	Q9NQA5	TRPV5_HUMAN			15	2422	-	Melanoma(164;0.059)		692					A4D2H7|E9PBZ6|Q8N4C1|Q8NDW5|Q8NDX7|Q8NDX8|Q96PM6	Missense_Mutation	SNP	ENST00000265310.1	37	c.2074G>A	CCDS5875.1	.	.	.	.	.	.	.	.	.	.	C	3.849	-0.032164	0.07543	.	.	ENSG00000127412	ENST00000265310;ENST00000439304	T;T	0.77620	-1.11;-1.06	4.99	3.84	0.44239	.	0.633246	0.16506	N	0.211430	T	0.35219	0.0924	N	0.00151	-1.98	0.80722	D	1	B	0.09022	0.002	B	0.01281	0.0	T	0.47509	-0.9112	10	0.02654	T	1	-14.6655	8.5823	0.33637	0.0:0.087:0.0:0.913	.	692	Q9NQA5	TRPV5_HUMAN	T	692;637	ENSP00000265310:A692T;ENSP00000406361:A637T	ENSP00000265310:A692T	A	-	1	0	TRPV5	142315918	1.000000	0.71417	0.994000	0.49952	0.715000	0.41141	2.727000	0.47311	0.951000	0.37770	-0.238000	0.12139	GCG		0.582	TRPV5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347660.1	NM_019841		22	24	0	0	0	1	0	22	24					T	142605796	C	T	142605796	3	4	435	1	0	0	0	0	1	0	0	0	16596	768	27	1	119	1	TRPV5	7	142605796	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	37796	142605796	16532867	3847	24772											
TRPV5	56302	broad.mit.edu	37	chr7	142606707	142606707	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cgcacccacagatcccggagCgaggccacaggcagcgaggc	10	1	14	16	4	0	1	0	0	0	1	1	4	1	2	3	4	2	2	3	4	0	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:142606707C>T	ENST00000265310.1	-	14	2192	c.1844G>A	c.(1843-1845)cGc>cAc	p.R615H		NM_019841.4	NP_062815.2	Q9NQA5	TRPV5_HUMAN	transient receptor potential cation channel, subfamily V, member 5	615					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|ion transmembrane transport (GO:0034220)|protein tetramerization (GO:0051262)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(14)|lung(32)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	67	Melanoma(164;0.059)					GATCCCGGAGCGAGGCCACAG	0.597																																						ENST00000265310.1																			0				NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(14)|lung(32)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	67						c.(1843-1845)cGc>cAc		transient receptor potential cation channel, subfamily V, member 5							78	69	72					7																	142606707		2203	4300	6503	SO:0001583	missense	56302				protein tetramerization	apical plasma membrane|integral to plasma membrane	calcium channel activity	g.chr7:142606707C>T	AJ271207	CCDS5875.1	7q34	2013-01-10	2002-01-29	2002-02-01	ENSG00000127412	ENSG00000127412		"Voltage-gated ion channels / Transient receptor potential cation channels", "Ankyrin repeat domain containing"	3145	protein-coding gene	gene with protein product		606679	"epithelial calcium channel 1"	ECAC1		10944439, 10945469, 16382100	Standard	NM_019841		Approved	CaT2	uc003wby.1	Q9NQA5	OTTHUMG00000157157	ENST00000265310.1:c.1844G>A	7.37:g.142606707C>T	ENSP00000265310:p.Arg615His						p.R615H	NM_019841.4	NP_062815.2	Q9NQA5	TRPV5_HUMAN			14	2192	-	Melanoma(164;0.059)		615					A4D2H7|E9PBZ6|Q8N4C1|Q8NDW5|Q8NDX7|Q8NDX8|Q96PM6	Missense_Mutation	SNP	ENST00000265310.1	37	c.1844G>A	CCDS5875.1	.	.	.	.	.	.	.	.	.	.	C	34	5.408297	0.96051	.	.	ENSG00000127412	ENST00000265310;ENST00000439304	D;D	0.82526	-1.56;-1.62	4.79	4.79	0.61399	.	0.000000	0.85682	D	0.000000	D	0.91164	0.7217	M	0.83384	2.64	0.80722	D	1	D	0.89917	1.0	D	0.67382	0.951	D	0.92147	0.5725	10	0.66056	D	0.02	-14.5709	17.3777	0.87397	0.0:1.0:0.0:0.0	.	615	Q9NQA5	TRPV5_HUMAN	H	615;560	ENSP00000265310:R615H;ENSP00000406361:R560H	ENSP00000265310:R615H	R	-	2	0	TRPV5	142316829	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	2.755000	0.47540	2.672000	0.90937	0.655000	0.94253	CGC		0.597	TRPV5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347660.1	NM_019841		12	17	0	0	0	1	0	12	17					T	142606707	C	T	142606707	3	4	435	1	0	0	0	0	1	0	0	0	16596	768	27	1	353	1	TRPV5	7	142606707	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	911	142606707	16531956	3848	24773											
KEL	3792	broad.mit.edu	37	chr7	142643378	142643378	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aacgtgcctgtctcctccacGcacttcatccatcgtgggcg	6	10	9	16	4	2	0	1	0	1	0	6	0	4	0	4	1	2	1	4	1	1	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:142643378G>A	ENST00000355265.2	-	11	1704	c.1230C>T	c.(1228-1230)tgC>tgT	p.C410C	KEL_ENST00000479768.2_5'UTR	NM_000420.2	NP_000411.1	P23276	KELL_HUMAN	Kell blood group, metallo-endopeptidase	410					vasoconstriction (GO:0042310)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60	Melanoma(164;0.059)					TCTCCTCCACGCACTTCATCC	0.567																																						ENST00000355265.2																			0				central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60						c.(1228-1230)tgC>tgT		Kell blood group, metallo-endopeptidase							84	71	75					7																	142643378		2203	4300	6503	SO:0001819	synonymous_variant	3792				proteolysis|vasoconstriction	integral to membrane|plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding	g.chr7:142643378G>A	BC003135	CCDS34766.1	7q33	2014-07-19	2006-10-10		ENSG00000197993	ENSG00000197993		"CD molecules", "Blood group antigens"	6308	protein-coding gene	gene with protein product		613883	"Kell blood group", "Kell blood group, metalloendopeptidase"			1712490, 7683930	Standard	NM_000420		Approved	ECE3, CD238	uc003wcb.3	P23276	OTTHUMG00000157159	ENST00000355265.2:c.1230C>T	7.37:g.142643378G>A						KEL_ENST00000479768.2_5'UTR	p.C410C	NM_000420.2	NP_000411.1	P23276	KELL_HUMAN			11	1704	-	Melanoma(164;0.059)		410					B2RBV4|Q96RS8|Q99885	Silent	SNP	ENST00000355265.2	37	c.1230C>T	CCDS34766.1																																																																																				0.567	KEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347671.2	NM_000420		5	7	0	0	0	1	0	5	7					A	142643378	G	A	142643378	2	1	435	1	0	0	0	0	0	0	0	1	8142	1079	38	1		1	KEL	7	142643378	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	36671	142643378	16495285	3849	24774											
PIP	5304	broad.mit.edu	37	chr7	142836256	142836256	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	atgtgacgacaatccaaaaaCcttctactgggacttttaca	14	11	6	10	1	1	1	0	1	1	0	2	3	2	2	2	1	3	0	2	1	5	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:142836256C>T	ENST00000291009.3	+	3	330	c.290C>T	c.(289-291)aCc>aTc	p.T97I		NM_002652.2	NP_002643.1	P12273	PIP_HUMAN	prolactin-induced protein	97					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|negative regulation of T cell apoptotic process (GO:0070233)|positive regulation of gene expression (GO:0010628)|proteolysis (GO:0006508)|regulation of immune system process (GO:0002682)|retina homeostasis (GO:0001895)	apical plasma membrane (GO:0016324)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	actin binding (GO:0003779)|aspartic-type endopeptidase activity (GO:0004190)|glycoprotein binding (GO:0001948)|IgG binding (GO:0019864)|protein dimerization activity (GO:0046983)			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|skin(1)	18	Melanoma(164;0.059)	Ovarian(593;2.82e-05)|Breast(660;0.012)		BRCA - Breast invasive adenocarcinoma(188;0.0026)|LUSC - Lung squamous cell carcinoma(290;0.0733)|Lung(243;0.08)		AATCCAAAAACCTTCTACTGG	0.438																																						ENST00000291009.3																			0				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|skin(1)	18						c.(289-291)aCc>aTc		prolactin-induced protein							116	104	108					7																	142836256		2203	4299	6502	SO:0001583	missense	5304					extracellular region	actin binding	g.chr7:142836256C>T		CCDS34768.1	7q34	2013-09-19			ENSG00000159763	ENSG00000159763			8993	protein-coding gene	gene with protein product	"prolactin-inducible protein"	176720				2727805, 1955075	Standard	NM_002652		Approved	GCDFP-15, GCDFP15, GPIP4	uc003wcf.1	P12273	OTTHUMG00000152635	ENST00000291009.3:c.290C>T	7.37:g.142836256C>T	ENSP00000291009:p.Thr97Ile						p.T97I	NM_002652.2	NP_002643.1	P12273	PIP_HUMAN		BRCA - Breast invasive adenocarcinoma(188;0.0026)|LUSC - Lung squamous cell carcinoma(290;0.0733)|Lung(243;0.08)	3	330	+	Melanoma(164;0.059)	Ovarian(593;2.82e-05)|Breast(660;0.012)	97					A0A963|A0A9C3|A0A9F3|A4D2I1	Missense_Mutation	SNP	ENST00000291009.3	37	c.290C>T	CCDS34768.1	.	.	.	.	.	.	.	.	.	.	C	13.73	2.324256	0.41197	.	.	ENSG00000159763	ENST00000291009	T	0.17054	2.3	4.84	-4.37	0.03633	.	0.486571	0.19124	N	0.122110	T	0.27629	0.0679	M	0.61703	1.905	0.09310	N	1	D	0.71674	0.998	D	0.63033	0.91	T	0.06734	-1.0810	10	0.54805	T	0.06	.	9.5971	0.39580	0.3477:0.1982:0.4542:0.0	.	97	P12273	PIP_HUMAN	I	97	ENSP00000291009:T97I	ENSP00000291009:T97I	T	+	2	0	PIP	142546378	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.053000	0.01400	-0.568000	0.06038	-0.974000	0.02594	ACC		0.438	PIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327089.1	NM_002652		22	86	0	0	0	1	0	22	86					T	142836256	C	T	142836256	3	4	435	1	0	0	0	0	1	0	0	0	11935	507	18	3	300	3	PIP	7	142836256	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	192878	142836256	16302407	3850	24775											
CLCN1	1180	broad.mit.edu	37	chr7	143018815	143018815	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaacgcttttaggctctggAatccccgaaatgaagacaat	13	10	8	10	2	2	2	1	1	1	1	3	4	3	3	2	2	1	2	2	2	6	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:143018815A>G	ENST00000343257.2	+	5	657	c.570A>G	c.(568-570)ggA>ggG	p.G190G	CLCN1_ENST00000495612.1_3'UTR	NM_000083.2	NP_000074	P35523	CLCN1_HUMAN	chloride channel, voltage-sensitive 1	190					chloride transmembrane transport (GO:1902476)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|neuronal action potential propagation (GO:0019227)|regulation of anion transport (GO:0044070)|transmembrane transport (GO:0055085)|transport (GO:0006810)	chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)	adenyl nucleotide binding (GO:0030554)|chloride channel activity (GO:0005254)|voltage-gated chloride channel activity (GO:0005247)			breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	58	Melanoma(164;0.205)					TAGGCTCTGGAATCCCCGAAA	0.498																																						ENST00000343257.2																			0				breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	58						c.(568-570)ggA>ggG		chloride channel, voltage-sensitive 1							95	84	87					7																	143018815		2203	4300	6503	SO:0001819	synonymous_variant	1180				muscle contraction	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity	g.chr7:143018815A>G	Z25884	CCDS5881.1	7q12	2012-09-26	2012-02-23		ENSG00000188037	ENSG00000188037		"Ion channels / Chloride channels : Voltage-sensitive"	2019	protein-coding gene	gene with protein product	"Thomsen disease, autosomal dominant"	118425	"chloride channel 1, skeletal muscle"			1379744	Standard	NM_000083		Approved	CLC1, ClC-1	uc003wcr.1	P35523	OTTHUMG00000152695	ENST00000343257.2:c.570A>G	7.37:g.143018815A>G						CLCN1_ENST00000495612.1_3'UTR	p.G190G	NM_000083.2	NP_000074.2	P35523	CLCN1_HUMAN			5	657	+	Melanoma(164;0.205)		190					A4D2H5|Q2M202	Silent	SNP	ENST00000343257.2	37	c.570A>G	CCDS5881.1																																																																																				0.498	CLCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327420.1	NM_000083		9	53	0	0	0	1	0	9	53					G	143018815	A	G	143018815	2	3	435	1	0	0	0	0	0	0	0	1	3462	233	9	4		4	CLCN1	7	143018815	Silent	SNP	A	TCGA-XK-AAIW-01A-11D-A41K-08	182559	143018815	16119848	3851	24776											
ZYX	7791	broad.mit.edu	37	chr7	143085619	143085619	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	catcaacccctggcccgggcGcagccagccgtccgcgctct	5	5	11	20	5	2	0	1	0	1	0	3	0	3	0	6	2	3	2	6	2	1	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:143085619G>A	ENST00000322764.5	+	7	1527	c.1182G>A	c.(1180-1182)gcG>gcA	p.A394A	ZYX_ENST00000449423.2_Silent_p.A307A|ZYX_ENST00000392910.2_Silent_p.A237A|EPHA1_ENST00000458129.1_5'Flank	NM_001010972.1|NM_003461.4	NP_001010972.1|NP_003452.1	Q15942	ZYX_HUMAN	zyxin	394	LIM zinc-binding 1. {ECO:0000255|PROSITE- ProRule:PRU00125}.				cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|cell-matrix adhesion (GO:0007160)|integrin-mediated signaling pathway (GO:0007229)|regulation of inflammatory response (GO:0050727)|signal transduction (GO:0007165)|stress fiber assembly (GO:0043149)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(8)|pancreas(1)	17	Melanoma(164;0.205)					TGGCCCGGGCGCAGCCAGCCG	0.617																																						ENST00000322764.5																			0				breast(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(8)|pancreas(1)	17						c.(1180-1182)gcG>gcA		zyxin							43	53	50					7																	143085619		2203	4299	6502	SO:0001819	synonymous_variant	7791				cell adhesion|cell-cell signaling|interspecies interaction between organisms|signal transduction	cell-cell adherens junction|cytoplasm|focal adhesion|integral to plasma membrane|nucleus|stress fiber	protein binding|zinc ion binding	g.chr7:143085619G>A	X95735	CCDS5883.1	7q32	2010-02-26			ENSG00000159840	ENSG00000159840			13200	protein-coding gene	gene with protein product		602002				8917469, 8940160	Standard	XM_005250052		Approved		uc003wcx.3	Q15942	OTTHUMG00000023822	ENST00000322764.5:c.1182G>A	7.37:g.143085619G>A						ZYX_ENST00000392910.2_Silent_p.A237A|ZYX_ENST00000449423.2_Silent_p.A307A	p.A394A	NM_001010972.1|NM_003461.4	NP_001010972.1|NP_003452.1	Q15942	ZYX_HUMAN			7	1527	+	Melanoma(164;0.205)		394			LIM zinc-binding 1.		A4D2G6|Q6I9S4	Silent	SNP	ENST00000322764.5	37	c.1182G>A	CCDS5883.1																																																																																				0.617	ZYX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000156296.2	NM_003461		21	20	0	0	0	1	0	21	20					A	143085619	G	A	143085619	2	1	435	1	0	0	0	0	0	0	0	1	18251	1074	38	1		1	ZYX	7	143085619	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	66804	143085619	16053044	3852	24777											
EPHA1	2041	broad.mit.edu	37	chr7	143091383	143091383	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acatcgctggctgtggtgaaGatccgatgggcaatggcttc	8	10	14	9	2	0	2	0	1	0	1	3	3	1	2	1	4	0	4	1	4	2	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:143091383G>T	ENST00000275815.3	-	15	2492	c.2406C>A	c.(2404-2406)atC>atA	p.I802I	EPHA1_ENST00000458129.1_5'Flank	NM_005232.4	NP_005223.4	P21709	EPHA1_HUMAN	EPH receptor A1	802	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of Rho GTPase activity (GO:0032862)|angiogenesis (GO:0001525)|cell surface receptor signaling pathway (GO:0007166)|negative regulation of cell migration (GO:0030336)|negative regulation of protein kinase activity (GO:0006469)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of stress fiber assembly (GO:0051496)|protein autophosphorylation (GO:0046777)|regulation of Rac GTPase activity (GO:0032314)|substrate adhesion-dependent cell spreading (GO:0034446)	integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|transmembrane-ephrin receptor activity (GO:0005005)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(21)|ovary(4)|skin(1)|stomach(1)|urinary_tract(3)	51	Melanoma(164;0.205)	Myeloproliferative disorder(862;0.0255)				CTGTGGTGAAGATCCGATGGG	0.547																																						ENST00000275815.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(21)|ovary(4)|skin(1)|stomach(1)|urinary_tract(3)	51						c.(2404-2406)atC>atA		EPH receptor A1							156	130	139					7																	143091383		2203	4300	6503	SO:0001819	synonymous_variant	2041					integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr7:143091383G>T	M18391	CCDS5884.1	7q32-q36	2013-02-11	2004-10-28		ENSG00000146904	ENSG00000146904	2.7.10.1	"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3385	protein-coding gene	gene with protein product		179610	"EphA1"	EPHT, EPHT1		9267020	Standard	NM_005232		Approved	EPH	uc003wcz.3	P21709	OTTHUMG00000155894	ENST00000275815.3:c.2406C>A	7.37:g.143091383G>T							p.I802I	NM_005232.4	NP_005223.4	P21709	EPHA1_HUMAN			15	2492	-	Melanoma(164;0.205)	Myeloproliferative disorder(862;0.0255)	802			Protein kinase.		A1L3V3|B5A966|B5A967|Q15405	Silent	SNP	ENST00000275815.3	37	c.2406C>A	CCDS5884.1																																																																																				0.547	EPHA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342154.1			16	27	1	0	1.02788e-11	1	1.10723e-11	16	27					T	143091383	G	T	143091383	2	4	435	1	0	0	0	0	0	0	0	1	5165	932	33	5		5	EPHA1	7	143091383	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	5764	143091383	16047280	3853	24778											
EPHA1	2041	broad.mit.edu	37	chr7	143095461	143095461	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caggttcgccccagggcttcGgggccgggaccccgcccagg	4	4	16	17	4	0	0	0	0	0	0	2	1	0	1	6	6	0	2	6	6	0	2	rs201944531		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:143095461G>A	ENST00000275815.3	-	7	1503	c.1417C>T	c.(1417-1419)Cga>Tga	p.R473*		NM_005232.4	NP_005223.4	P21709	EPHA1_HUMAN	EPH receptor A1	473	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				activation of Rho GTPase activity (GO:0032862)|angiogenesis (GO:0001525)|cell surface receptor signaling pathway (GO:0007166)|negative regulation of cell migration (GO:0030336)|negative regulation of protein kinase activity (GO:0006469)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of stress fiber assembly (GO:0051496)|protein autophosphorylation (GO:0046777)|regulation of Rac GTPase activity (GO:0032314)|substrate adhesion-dependent cell spreading (GO:0034446)	integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|transmembrane-ephrin receptor activity (GO:0005005)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(21)|ovary(4)|skin(1)|stomach(1)|urinary_tract(3)	51	Melanoma(164;0.205)	Myeloproliferative disorder(862;0.0255)				CCAGGGCTTCGGGGCCGGGAC	0.607																																						ENST00000275815.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(21)|ovary(4)|skin(1)|stomach(1)|urinary_tract(3)	51						c.(1417-1419)Cga>Tga		EPH receptor A1							48	50	49					7																	143095461		2203	4300	6503	SO:0001587	stop_gained	2041					integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr7:143095461G>A	M18391	CCDS5884.1	7q32-q36	2013-02-11	2004-10-28		ENSG00000146904	ENSG00000146904	2.7.10.1	"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3385	protein-coding gene	gene with protein product		179610	"EphA1"	EPHT, EPHT1		9267020	Standard	NM_005232		Approved	EPH	uc003wcz.3	P21709	OTTHUMG00000155894	ENST00000275815.3:c.1417C>T	7.37:g.143095461G>A	ENSP00000275815:p.Arg473*						p.R473*	NM_005232.4	NP_005223.4	P21709	EPHA1_HUMAN			7	1503	-	Melanoma(164;0.205)	Myeloproliferative disorder(862;0.0255)	473			Fibronectin type-III 2.		A1L3V3|B5A966|B5A967|Q15405	Nonsense_Mutation	SNP	ENST00000275815.3	37	c.1417C>T	CCDS5884.1	.	.	.	.	.	.	.	.	.	.	G	33	5.263753	0.95399	.	.	ENSG00000146904	ENST00000275815	.	.	.	4.98	4.98	0.66077	.	0.108387	0.41605	D	0.000846	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.1095	0.65113	0.0:0.0:1.0:0.0	.	.	.	.	X	473	.	ENSP00000275815:R473X	R	-	1	2	EPHA1	142805583	0.961000	0.32948	0.040000	0.18447	0.147000	0.21601	2.084000	0.41625	2.461000	0.83175	0.655000	0.94253	CGA		0.607	EPHA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342154.1			17	22	0	0	0	1	0	17	22					A	143095461	G	A	143095461	4	1	435	1	0	0	0	0	0	1	0	0	5165	1124	39	2	1561	2	EPHA1	7	143095461	Nonsense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	4078	143095461	16043202	3854	24779											
EPHA1	2041	broad.mit.edu	37	chr7	143096356	143096356	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	accccctggactcacctgtgCatgccacctgggggccctcc	5	7	10	19	0	1	0	1	0	0	0	2	1	2	1	7	3	2	1	7	3	0	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:143096356C>T	ENST00000275815.3	-	5	1072	c.986G>A	c.(985-987)tGc>tAc	p.C329Y		NM_005232.4	NP_005223.4	P21709	EPHA1_HUMAN	EPH receptor A1	329	Cys-rich.				activation of Rho GTPase activity (GO:0032862)|angiogenesis (GO:0001525)|cell surface receptor signaling pathway (GO:0007166)|negative regulation of cell migration (GO:0030336)|negative regulation of protein kinase activity (GO:0006469)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of stress fiber assembly (GO:0051496)|protein autophosphorylation (GO:0046777)|regulation of Rac GTPase activity (GO:0032314)|substrate adhesion-dependent cell spreading (GO:0034446)	integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|transmembrane-ephrin receptor activity (GO:0005005)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(21)|ovary(4)|skin(1)|stomach(1)|urinary_tract(3)	51	Melanoma(164;0.205)	Myeloproliferative disorder(862;0.0255)				CTCACCTGTGCATGCCACCTG	0.617																																						ENST00000275815.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(21)|ovary(4)|skin(1)|stomach(1)|urinary_tract(3)	51						c.(985-987)tGc>tAc		EPH receptor A1							40	48	45					7																	143096356		2202	4299	6501	SO:0001583	missense	2041					integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr7:143096356C>T	M18391	CCDS5884.1	7q32-q36	2013-02-11	2004-10-28		ENSG00000146904	ENSG00000146904	2.7.10.1	"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3385	protein-coding gene	gene with protein product		179610	"EphA1"	EPHT, EPHT1		9267020	Standard	NM_005232		Approved	EPH	uc003wcz.3	P21709	OTTHUMG00000155894	ENST00000275815.3:c.986G>A	7.37:g.143096356C>T	ENSP00000275815:p.Cys329Tyr						p.C329Y	NM_005232.4	NP_005223.4	P21709	EPHA1_HUMAN			5	1072	-	Melanoma(164;0.205)	Myeloproliferative disorder(862;0.0255)	329			Cys-rich.		A1L3V3|B5A966|B5A967|Q15405	Missense_Mutation	SNP	ENST00000275815.3	37	c.986G>A	CCDS5884.1	.	.	.	.	.	.	.	.	.	.	C	26.5	4.742601	0.89573	.	.	ENSG00000146904	ENST00000275815	D	0.96265	-3.96	5.2	5.2	0.72013	Growth factor, receptor (1);	0.088409	0.50627	D	0.000117	D	0.98670	0.9554	M	0.93420	3.415	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.99509	1.0955	10	0.87932	D	0	.	18.9349	0.92582	0.0:1.0:0.0:0.0	.	329	P21709	EPHA1_HUMAN	Y	329	ENSP00000275815:C329Y	ENSP00000275815:C329Y	C	-	2	0	EPHA1	142806478	1.000000	0.71417	0.995000	0.50966	0.994000	0.84299	7.084000	0.76866	2.698000	0.92095	0.650000	0.86243	TGC		0.617	EPHA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342154.1			15	25	0	0	0	1	0	15	25					T	143096356	C	T	143096356	3	4	435	1	0	0	0	0	1	0	0	0	5165	710	25	3	2000	3	EPHA1	7	143096356	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	895	143096356	16042307	3855	24780											
EPHA1	2041	broad.mit.edu	37	chr7	143096397	143096397	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccgggagctctgtaatggccGctctcacaggtacagatggt	8	9	13	11	2	2	1	1	0	2	1	3	2	2	2	2	4	2	4	2	4	2	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:143096397G>A	ENST00000275815.3	-	5	1031	c.945C>T	c.(943-945)agC>agT	p.S315S		NM_005232.4	NP_005223.4	P21709	EPHA1_HUMAN	EPH receptor A1	315	Cys-rich.				activation of Rho GTPase activity (GO:0032862)|angiogenesis (GO:0001525)|cell surface receptor signaling pathway (GO:0007166)|negative regulation of cell migration (GO:0030336)|negative regulation of protein kinase activity (GO:0006469)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of stress fiber assembly (GO:0051496)|protein autophosphorylation (GO:0046777)|regulation of Rac GTPase activity (GO:0032314)|substrate adhesion-dependent cell spreading (GO:0034446)	integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|transmembrane-ephrin receptor activity (GO:0005005)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(21)|ovary(4)|skin(1)|stomach(1)|urinary_tract(3)	51	Melanoma(164;0.205)	Myeloproliferative disorder(862;0.0255)				TGTAATGGCCGCTCTCACAGG	0.652																																						ENST00000275815.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(21)|ovary(4)|skin(1)|stomach(1)|urinary_tract(3)	51						c.(943-945)agC>agT		EPH receptor A1							39	44	42					7																	143096397		2203	4300	6503	SO:0001819	synonymous_variant	2041					integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr7:143096397G>A	M18391	CCDS5884.1	7q32-q36	2013-02-11	2004-10-28		ENSG00000146904	ENSG00000146904	2.7.10.1	"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3385	protein-coding gene	gene with protein product		179610	"EphA1"	EPHT, EPHT1		9267020	Standard	NM_005232		Approved	EPH	uc003wcz.3	P21709	OTTHUMG00000155894	ENST00000275815.3:c.945C>T	7.37:g.143096397G>A							p.S315S	NM_005232.4	NP_005223.4	P21709	EPHA1_HUMAN			5	1031	-	Melanoma(164;0.205)	Myeloproliferative disorder(862;0.0255)	315			Cys-rich.		A1L3V3|B5A966|B5A967|Q15405	Silent	SNP	ENST00000275815.3	37	c.945C>T	CCDS5884.1																																																																																				0.652	EPHA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342154.1			9	19	0	0	0	1	0	9	19					A	143096397	G	A	143096397	2	1	435	1	0	0	0	0	0	0	0	1	5165	1078	38	1		1	EPHA1	7	143096397	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	41	143096397	16042266	3856	24781											
EPHA1	2041	broad.mit.edu	37	chr7	143096842	143096842	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	catcagggctgcagtgcatgCggggtgcacctgagggcctg	6	7	17	11	1	1	1	1	1	0	0	1	1	1	1	2	4	4	4	2	4	0	0	rs200235266		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:143096842C>T	ENST00000275815.3	-	4	823	c.737G>A	c.(736-738)cGc>cAc	p.R246H		NM_005232.4	NP_005223.4	P21709	EPHA1_HUMAN	EPH receptor A1	246	Cys-rich.				activation of Rho GTPase activity (GO:0032862)|angiogenesis (GO:0001525)|cell surface receptor signaling pathway (GO:0007166)|negative regulation of cell migration (GO:0030336)|negative regulation of protein kinase activity (GO:0006469)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of stress fiber assembly (GO:0051496)|protein autophosphorylation (GO:0046777)|regulation of Rac GTPase activity (GO:0032314)|substrate adhesion-dependent cell spreading (GO:0034446)	integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|transmembrane-ephrin receptor activity (GO:0005005)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(21)|ovary(4)|skin(1)|stomach(1)|urinary_tract(3)	51	Melanoma(164;0.205)	Myeloproliferative disorder(862;0.0255)				GCAGTGCATGCGGGGTGCACC	0.667																																						ENST00000275815.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(21)|ovary(4)|skin(1)|stomach(1)|urinary_tract(3)	51						c.(736-738)cGc>cAc		EPH receptor A1							33	35	34					7																	143096842		2203	4300	6503	SO:0001583	missense	2041					integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr7:143096842C>T	M18391	CCDS5884.1	7q32-q36	2013-02-11	2004-10-28		ENSG00000146904	ENSG00000146904	2.7.10.1	"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3385	protein-coding gene	gene with protein product		179610	"EphA1"	EPHT, EPHT1		9267020	Standard	NM_005232		Approved	EPH	uc003wcz.3	P21709	OTTHUMG00000155894	ENST00000275815.3:c.737G>A	7.37:g.143096842C>T	ENSP00000275815:p.Arg246His						p.R246H	NM_005232.4	NP_005223.4	P21709	EPHA1_HUMAN			4	823	-	Melanoma(164;0.205)	Myeloproliferative disorder(862;0.0255)	246			Cys-rich.		A1L3V3|B5A966|B5A967|Q15405	Missense_Mutation	SNP	ENST00000275815.3	37	c.737G>A	CCDS5884.1	.	.	.	.	.	.	.	.	.	.	C	18.78	3.697586	0.68386	.	.	ENSG00000146904	ENST00000275815	T	0.73897	-0.79	5.22	4.33	0.51752	.	0.128515	0.32836	N	0.005583	T	0.69646	0.3134	M	0.86651	2.83	0.09310	N	1	P	0.46395	0.877	B	0.29598	0.104	T	0.71364	-0.4615	10	0.87932	D	0	.	8.3986	0.32572	0.0:0.7678:0.0:0.2322	.	246	P21709	EPHA1_HUMAN	H	246	ENSP00000275815:R246H	ENSP00000275815:R246H	R	-	2	0	EPHA1	142806964	0.001000	0.12720	0.908000	0.35775	0.873000	0.50193	0.413000	0.21148	1.406000	0.46857	0.655000	0.94253	CGC		0.667	EPHA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342154.1			9	18	0	0	0	1	0	9	18					T	143096842	C	T	143096842	3	4	435	1	0	0	0	0	1	0	0	0	5165	768	27	1	2253	1	EPHA1	7	143096842	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	445	143096842	16041821	3857	24782											
EPHA1	2041	broad.mit.edu	37	chr7	143097138	143097138	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aagctctggtctgcagccacCgtggttacctgggtagaagg	8	9	14	10	1	2	1	0	0	2	1	2	1	2	1	3	4	4	4	3	4	4	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:143097138C>T	ENST00000275815.3	-	4	527	c.441G>A	c.(439-441)acG>acA	p.T147T		NM_005232.4	NP_005223.4	P21709	EPHA1_HUMAN	EPH receptor A1	147	Eph LBD. {ECO:0000255|PROSITE- ProRule:PRU00883}.				activation of Rho GTPase activity (GO:0032862)|angiogenesis (GO:0001525)|cell surface receptor signaling pathway (GO:0007166)|negative regulation of cell migration (GO:0030336)|negative regulation of protein kinase activity (GO:0006469)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of stress fiber assembly (GO:0051496)|protein autophosphorylation (GO:0046777)|regulation of Rac GTPase activity (GO:0032314)|substrate adhesion-dependent cell spreading (GO:0034446)	integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|transmembrane-ephrin receptor activity (GO:0005005)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(21)|ovary(4)|skin(1)|stomach(1)|urinary_tract(3)	51	Melanoma(164;0.205)	Myeloproliferative disorder(862;0.0255)				CTGCAGCCACCGTGGTTACCT	0.552																																						ENST00000275815.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(21)|ovary(4)|skin(1)|stomach(1)|urinary_tract(3)	51						c.(439-441)acG>acA		EPH receptor A1							28	30	30					7																	143097138		2201	4296	6497	SO:0001819	synonymous_variant	2041					integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr7:143097138C>T	M18391	CCDS5884.1	7q32-q36	2013-02-11	2004-10-28		ENSG00000146904	ENSG00000146904	2.7.10.1	"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3385	protein-coding gene	gene with protein product		179610	"EphA1"	EPHT, EPHT1		9267020	Standard	NM_005232		Approved	EPH	uc003wcz.3	P21709	OTTHUMG00000155894	ENST00000275815.3:c.441G>A	7.37:g.143097138C>T							p.T147T	NM_005232.4	NP_005223.4	P21709	EPHA1_HUMAN			4	527	-	Melanoma(164;0.205)	Myeloproliferative disorder(862;0.0255)	147					A1L3V3|B5A966|B5A967|Q15405	Silent	SNP	ENST00000275815.3	37	c.441G>A	CCDS5884.1																																																																																				0.552	EPHA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342154.1			9	11	0	0	0	1	0	9	11					T	143097138	C	T	143097138	2	4	435	1	0	0	0	0	0	0	0	1	5165	639	23	2		2	EPHA1	7	143097138	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	296	143097138	16041525	3858	24783											
OR2F2	135948	broad.mit.edu	37	chr7	143633212	143633212	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttatagtctaaggaataaagAggtgaagggggcctggcata	14	9	14	4	0	1	2	0	1	1	1	1	3	1	3	1	5	0	1	1	5	8	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:143633212A>G	ENST00000408955.2	+	1	954	c.887A>G	c.(886-888)gAg>gGg	p.E296G		NM_001004685.1	NP_001004685.1	O95006	OR2F2_HUMAN	olfactory receptor, family 2, subfamily F, member 2	296						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(19)|ovary(3)|skin(2)|stomach(1)|urinary_tract(1)	32	Melanoma(164;0.0903)					AGGAATAAAGAGGTGAAGGGG	0.433																																						ENST00000408955.2																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(19)|ovary(3)|skin(2)|stomach(1)|urinary_tract(1)	32						c.(886-888)gAg>gGg		olfactory receptor, family 2, subfamily F, member 2							61	61	61					7																	143633212		2052	4254	6306	SO:0001583	missense	135948				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr7:143633212A>G		CCDS43666.1	7q33-q35	2012-08-09			ENSG00000221910	ENSG00000221910		"GPCR / Class A : Olfactory receptors"	8247	protein-coding gene	gene with protein product							Standard	NM_001004685		Approved	OR7-1	uc011ktv.2	O95006	OTTHUMG00000157768	ENST00000408955.2:c.887A>G	7.37:g.143633212A>G	ENSP00000386222:p.Glu296Gly						p.E296G	NM_001004685.1	NP_001004685.1	O95006	OR2F2_HUMAN			1	954	+	Melanoma(164;0.0903)		296					A4D2G0|Q6IFP8	Missense_Mutation	SNP	ENST00000408955.2	37	c.887A>G	CCDS43666.1	.	.	.	.	.	.	.	.	.	.	A	14.17	2.454721	0.43634	.	.	ENSG00000221910	ENST00000408955	T	0.40225	1.04	3.78	3.78	0.43462	.	0.133844	0.33834	N	0.004503	T	0.49626	0.1568	M	0.84156	2.68	0.31511	N	0.663543	P	0.42078	0.77	B	0.43575	0.424	T	0.65319	-0.6197	10	0.87932	D	0	-14.8506	10.7947	0.46453	1.0:0.0:0.0:0.0	.	296	O95006	OR2F2_HUMAN	G	296	ENSP00000386222:E296G	ENSP00000386222:E296G	E	+	2	0	OR2F2	143264145	1.000000	0.71417	1.000000	0.80357	0.689000	0.40095	4.376000	0.59556	1.715000	0.51383	0.402000	0.26972	GAG		0.433	OR2F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349570.1			21	34	0	0	0	1	0	21	34					G	143633212	A	G	143633212	3	3	435	1	0	0	0	0	1	0	0	0	10997	304	11	4	889	4	OR2F2	7	143633212	Missense_Mutation	SNP	A	TCGA-XK-AAIW-01A-11D-A41K-08	536074	143633212	15505451	3859	24784											
OR2A12	346525	broad.mit.edu	37	chr7	143793006	143793006	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtcaagccattctcaagaacGgaggaagatcctttccctgt	11	10	9	11	1	2	2	2	0	1	2	5	4	4	4	3	2	2	0	3	2	4	2	rs373620683		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:143793006G>A	ENST00000408949.2	+	1	866	c.806G>A	c.(805-807)cGg>cAg	p.R269Q		NM_001004135.1	NP_001004135.1	Q8NGT7	O2A12_HUMAN	olfactory receptor, family 2, subfamily A, member 12	269						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)	25	Melanoma(164;0.0783)					TCTCAAGAACGGAGGAAGATC	0.527																																						ENST00000408949.2																			0				breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)	25						c.(805-807)cGg>cAg		olfactory receptor, family 2, subfamily A, member 12		A	GLN/ARG	0,3816		0,0,1908	194	186	188		806	4.3	0	7		188	1,8275		0,1,4137	no	missense	OR2A12	NM_001004135.1	43	0,1,6045	AA,AG,GG		0.0121,0.0,0.0083	benign	269/311	143793006	1,12091	1908	4138	6046	SO:0001583	missense	346525				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr7:143793006G>A		CCDS43670.1	7q35	2013-09-20	2002-11-13	2002-11-13	ENSG00000221858	ENSG00000221858		"GPCR / Class A : Olfactory receptors"	15082	protein-coding gene	gene with protein product			"olfactory receptor, family 2, subfamily A, member 12 pseudogene"	OR2A12P			Standard	NM_001004135		Approved		uc011kty.2	Q8NGT7	OTTHUMG00000157996	ENST00000408949.2:c.806G>A	7.37:g.143793006G>A	ENSP00000386174:p.Arg269Gln						p.R269Q	NM_001004135.1	NP_001004135.1	Q8NGT7	O2A12_HUMAN			1	866	+	Melanoma(164;0.0783)		269					Q6IF43	Missense_Mutation	SNP	ENST00000408949.2	37	c.806G>A	CCDS43670.1	.	.	.	.	.	.	.	.	.	.	A	0.028	-1.353001	0.01256	0.0	1.21E-4	ENSG00000221858	ENST00000408949	T	0.00044	8.83	4.33	4.33	0.51752	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00039	0.0001	N	0.00656	-1.285	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.17107	-1.0380	9	0.02654	T	1	-8.4336	5.8903	0.18909	0.7909:0.0:0.2091:0.0	.	269	Q8NGT7	O2A12_HUMAN	Q	269	ENSP00000386174:R269Q	ENSP00000386174:R269Q	R	+	2	0	OR2A12	143423939	0.000000	0.05858	0.044000	0.18714	0.620000	0.37586	0.013000	0.13310	0.703000	0.31848	-0.471000	0.05019	CGG		0.527	OR2A12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349969.1			83	139	0	0	0	1	0	83	139					A	143793006	G	A	143793006	3	1	435	1	0	0	0	0	1	0	0	0	10975	1116	39	2	808	2	OR2A12	7	143793006	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	159794	143793006	15345657	3860	24785											
ARHGEF5	7984	broad.mit.edu	37	chr7	144060434	144060434	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	agtcaagggctcttgcatccCcaggaggtccaagttctgga	9	9	12	11	0	3	0	1	0	2	0	5	2	5	2	3	4	1	3	3	4	2	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:144060434C>A	ENST00000056217.5	+	2	846	c.672C>A	c.(670-672)ccC>ccA	p.P224P	ARHGEF5_ENST00000471847.2_5'Flank	NM_005435.3	NP_005426.2	Q12774	ARHG5_HUMAN	Rho guanine nucleotide exchange factor (GEF) 5	224					actin cytoskeleton organization (GO:0030036)|intracellular signal transduction (GO:0035556)|myeloid dendritic cell chemotaxis (GO:0002408)|positive regulation of podosome assembly (GO:0071803)|regulation of Rho GTPase activity (GO:0032319)		GTP binding (GO:0005525)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|endometrium(6)|kidney(8)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	Melanoma(164;0.14)					TCTTGCATCCCCAGGAGGTCC	0.572																																						ENST00000056217.5																			0				breast(1)|endometrium(6)|kidney(8)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						c.(670-672)ccC>ccA		Rho guanine nucleotide exchange factor (GEF) 5							102	114	110					7																	144060434		2171	4266	6437	SO:0001819	synonymous_variant	7984				intracellular signal transduction|regulation of Rho protein signal transduction	intracellular	GTP binding|protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr7:144060434C>A	U02082	CCDS34771.1	7q35	2012-09-20			ENSG00000050327	ENSG00000050327		"Rho guanine nucleotide exchange factors"	13209	protein-coding gene	gene with protein product	"transforming immortalized mammary oncogene", "guanine nucleotide regulatory protein TIM"	600888				8134109, 7656213	Standard	NM_005435		Approved	TIM, TIM1, GEF5, P60	uc003wel.3	Q12774	OTTHUMG00000158004	ENST00000056217.5:c.672C>A	7.37:g.144060434C>A							p.P224P	NM_005435.3	NP_005426.2	Q12774	ARHG5_HUMAN			2	846	+	Melanoma(164;0.14)		224					A6NNJ2|Q6ZML7	Silent	SNP	ENST00000056217.5	37	c.672C>A	CCDS34771.1																																																																																				0.572	ARHGEF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349981.1	NM_005435		47	180	1	0	3.56336e-21	1	3.95573e-21	47	180					A	144060434	C	A	144060434	2	1	435	1	0	0	0	0	0	0	0	1	909	610	22	5		5	ARHGEF5	7	144060434	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	267428	144060434	15078229	3861	24786											
ARHGEF5	7984	broad.mit.edu	37	chr7	144070324	144070324	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ataacaatgtccagagtatgCgacggacagaggaactaatc	16	7	10	8	2	0	2	0	0	0	2	2	5	1	4	1	2	3	1	1	2	5	3	rs150657398	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:144070324C>T	ENST00000056217.5	+	10	4261	c.4087C>T	c.(4087-4089)Cga>Tga	p.R1363*	ARHGEF5_ENST00000471847.2_Nonsense_Mutation_p.R285*	NM_005435.3	NP_005426.2	Q12774	ARHG5_HUMAN	Rho guanine nucleotide exchange factor (GEF) 5	1363					actin cytoskeleton organization (GO:0030036)|intracellular signal transduction (GO:0035556)|myeloid dendritic cell chemotaxis (GO:0002408)|positive regulation of podosome assembly (GO:0071803)|regulation of Rho GTPase activity (GO:0032319)		GTP binding (GO:0005525)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|endometrium(6)|kidney(8)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	Melanoma(164;0.14)					CCAGAGTATGCGACGGACAGA	0.522																																						ENST00000056217.5																			0				breast(1)|endometrium(6)|kidney(8)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						c.(4087-4089)Cga>Tga		Rho guanine nucleotide exchange factor (GEF) 5							123	113	117					7																	144070324		2068	4097	6165	SO:0001587	stop_gained	7984				intracellular signal transduction|regulation of Rho protein signal transduction	intracellular	GTP binding|protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr7:144070324C>T	U02082	CCDS34771.1	7q35	2012-09-20			ENSG00000050327	ENSG00000050327		"Rho guanine nucleotide exchange factors"	13209	protein-coding gene	gene with protein product	"transforming immortalized mammary oncogene", "guanine nucleotide regulatory protein TIM"	600888				8134109, 7656213	Standard	NM_005435		Approved	TIM, TIM1, GEF5, P60	uc003wel.3	Q12774	OTTHUMG00000158004	ENST00000056217.5:c.4087C>T	7.37:g.144070324C>T	ENSP00000056217:p.Arg1363*					ARHGEF5_ENST00000471847.2_Nonsense_Mutation_p.R285*	p.R1363*	NM_005435.3	NP_005426.2	Q12774	ARHG5_HUMAN			10	4261	+	Melanoma(164;0.14)		1363					A6NNJ2|Q6ZML7	Nonsense_Mutation	SNP	ENST00000056217.5	37	c.4087C>T	CCDS34771.1	.	.	.	.	.	.	.	.	.	.	C	43	9.918621	0.99295	.	.	ENSG00000050327	ENST00000056217;ENST00000344879;ENST00000471847	.	.	.	4.54	4.54	0.55810	.	0.149974	0.45606	D	0.000356	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-9.5765	9.9605	0.41693	0.2022:0.7977:0.0:0.0	.	.	.	.	X	1363;218;285	.	ENSP00000056217:R1363X	R	+	1	2	ARHGEF5	143701257	1.000000	0.71417	0.997000	0.53966	0.377000	0.30045	6.274000	0.72587	2.344000	0.79699	0.655000	0.94253	CGA		0.522	ARHGEF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349981.1	NM_005435		28	56	0	0	0	1	0	28	56					T	144070324	C	T	144070324	4	4	435	1	0	0	0	0	0	1	0	0	909	760	27	1	4121	1	ARHGEF5	7	144070324	Nonsense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	9890	144070324	15068339	3862	24787											
CNTNAP2	26047	broad.mit.edu	37	chr7	147092700	147092700	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cccatttcttctgtttcacaGgttttctgaaccagatgaat	9	16	6	10	0	4	3	1	2	3	1	4	3	4	3	2	1	1	2	2	1	2	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:147092700G>T	ENST00000361727.3	+	10	2014		c.e10-1			NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2						adult behavior (GO:0030534)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cellular protein localization (GO:0034613)|cerebral cortex development (GO:0021987)|clustering of voltage-gated potassium channels (GO:0045163)|learning (GO:0007612)|limbic system development (GO:0021761)|neuron projection development (GO:0031175)|neuron recognition (GO:0008038)|protein localization to juxtaparanode region of axon (GO:0071205)|social behavior (GO:0035176)|striatum development (GO:0021756)|superior temporal gyrus development (GO:0071109)|thalamus development (GO:0021794)|transmission of nerve impulse (GO:0019226)|vocalization behavior (GO:0071625)	axolemma (GO:0030673)|axon (GO:0030424)|cell surface (GO:0009986)|dendrite (GO:0030425)|early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|juxtaparanode region of axon (GO:0044224)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|voltage-gated potassium channel complex (GO:0008076)	enzyme binding (GO:0019899)			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			CTGTTTCACAGGTTTTCTGAA	0.408										HNSCC(39;0.1)																												ENST00000361727.3																			0				NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188						c.e10-1		contactin associated protein-like 2							142	135	137					7																	147092700		2203	4299	6502	SO:0001630	splice_region_variant	26047				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding	g.chr7:147092700G>T	AF193613	CCDS5889.1	7q35	2008-02-04			ENSG00000174469	ENSG00000174469			13830	protein-coding gene	gene with protein product		604569				10624965, 10048485	Standard	NM_014141		Approved	Caspr2, KIAA0868, NRXN4	uc003weu.2	Q9UHC6	OTTHUMG00000152743	ENST00000361727.3:c.1499-1G>T	7.37:g.147092700G>T		HNSCC(39;0.1)						NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0319)		10	2014	+	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)						D3DWG2|Q14DG2|Q52LV1|Q5H9Q7|Q9UQ12	Splice_Site	SNP	ENST00000361727.3	37		CCDS5889.1	.	.	.	.	.	.	.	.	.	.	G	23.5	4.421309	0.83559	.	.	ENSG00000174469	ENST00000361727	.	.	.	5.26	5.26	0.73747	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.4777	0.87664	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CNTNAP2	146723633	1.000000	0.71417	0.999000	0.59377	0.934000	0.57294	8.381000	0.90152	2.471000	0.83476	0.585000	0.79938	.		0.408	CNTNAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327668.1		Intron	17	98	1	0	1.15088e-07	1	1.20771e-07	17	98					T	147092700	G	T	147092700	5	4	435	1	0	0	0	0	0	0	1	0	3647	1014	35	5	1536	5	CNTNAP2	7	147092700	Splice_Site	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	3022376	147092700	12045963	3863	24788											
CUL1	8454	broad.mit.edu	37	chr7	148427245	148427245	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cccggagccagaacccccacGgcctgaagcagattggcctg	9	4	12	16	2	0	3	0	1	0	2	0	4	0	4	6	3	3	1	6	3	2	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:148427245G>A	ENST00000325222.4	+	2	310	c.31G>A	c.(31-33)Ggc>Agc	p.G11S	CUL1_ENST00000409469.1_Missense_Mutation_p.G11S|CUL1_ENST00000602748.1_Missense_Mutation_p.G11S|AC005229.1_ENST00000578165.1_RNA	NM_003592.2	NP_003583.2	Q13616	CUL1_HUMAN	cullin 1	11					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|intrinsic apoptotic signaling pathway (GO:0097193)|mitotic cell cycle (GO:0000278)|negative regulation of cell proliferation (GO:0008285)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein monoubiquitination (GO:0006513)|protein ubiquitination (GO:0016567)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|viral process (GO:0016032)	cullin-RING ubiquitin ligase complex (GO:0031461)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|Parkin-FBXW7-Cul1 ubiquitin ligase complex (GO:1990452)|SCF ubiquitin ligase complex (GO:0019005)				breast(2)|central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(10)|liver(2)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	40	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00291)			GAACCCCCACGGCCTGAAGCA	0.532																																						ENST00000325222.4																			0				breast(2)|central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(10)|liver(2)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	40						c.(31-33)Ggc>Agc		cullin 1							108	103	105					7																	148427245		2203	4300	6503	SO:0001583	missense	8454				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell cycle arrest|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein ubiquitination|S phase of mitotic cell cycle|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	cytosol|nucleoplasm|SCF ubiquitin ligase complex	ubiquitin protein ligase binding	g.chr7:148427245G>A	U58087	CCDS34772.1	7q36.1	2011-05-24			ENSG00000055130	ENSG00000055130			2551	protein-coding gene	gene with protein product		603134				8681378	Standard	NM_003592		Approved		uc003wey.3	Q13616	OTTHUMG00000152776	ENST00000325222.4:c.31G>A	7.37:g.148427245G>A	ENSP00000326804:p.Gly11Ser					CUL1_ENST00000602748.1_Missense_Mutation_p.G11S|CUL1_ENST00000409469.1_Missense_Mutation_p.G11S	p.G11S	NM_003592.2	NP_003583.2	Q13616	CUL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00291)		2	310	+	Melanoma(164;0.15)		11					D3DWG3|O60719|Q08AL6|Q8IYW1	Missense_Mutation	SNP	ENST00000325222.4	37	c.31G>A	CCDS34772.1	.	.	.	.	.	.	.	.	.	.	G	26.6	4.754322	0.89843	.	.	ENSG00000055130	ENST00000409469;ENST00000325222;ENST00000433865	T;T	0.74209	-0.82;-0.82	5.79	5.79	0.91817	.	0.048888	0.85682	D	0.000000	T	0.61375	0.2342	N	0.26130	0.795	0.80722	D	1	B	0.29508	0.246	B	0.18871	0.023	T	0.59343	-0.7472	10	0.09843	T	0.71	-20.0358	20.0155	0.97477	0.0:0.0:1.0:0.0	.	11	Q13616	CUL1_HUMAN	S	11	ENSP00000387160:G11S;ENSP00000326804:G11S	ENSP00000326804:G11S	G	+	1	0	CUL1	148058178	1.000000	0.71417	0.995000	0.50966	0.975000	0.68041	9.507000	0.97996	2.742000	0.94016	0.591000	0.81541	GGC		0.532	CUL1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467785.1	NM_003592		32	37	0	0	0	1	0	32	37					A	148427245	G	A	148427245	3	1	435	1	0	0	0	0	1	0	0	0	4054	1116	39	2	33	2	CUL1	7	148427245	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	1334545	148427245	10711418	3864	24789											
CUL1	8454	broad.mit.edu	37	chr7	148457470	148457470	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgcatttgcaaagggccctaCgttaacagtgtataaagaat	14	11	9	7	1	0	1	0	0	0	1	0	1	0	1	1	1	4	4	1	1	7	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:148457470C>T	ENST00000325222.4	+	7	950	c.671C>T	c.(670-672)aCg>aTg	p.T224M	CUL1_ENST00000409469.1_Missense_Mutation_p.T224M|CUL1_ENST00000602748.1_Missense_Mutation_p.T224M	NM_003592.2	NP_003583.2	Q13616	CUL1_HUMAN	cullin 1	224					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|intrinsic apoptotic signaling pathway (GO:0097193)|mitotic cell cycle (GO:0000278)|negative regulation of cell proliferation (GO:0008285)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein monoubiquitination (GO:0006513)|protein ubiquitination (GO:0016567)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|viral process (GO:0016032)	cullin-RING ubiquitin ligase complex (GO:0031461)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|Parkin-FBXW7-Cul1 ubiquitin ligase complex (GO:1990452)|SCF ubiquitin ligase complex (GO:0019005)				breast(2)|central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(10)|liver(2)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	40	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00291)			AAGGGCCCTACGTTAACAGTG	0.358																																						ENST00000325222.4																			0				breast(2)|central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(10)|liver(2)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	40						c.(670-672)aCg>aTg		cullin 1							123	140	134					7																	148457470		2203	4300	6503	SO:0001583	missense	8454				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell cycle arrest|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein ubiquitination|S phase of mitotic cell cycle|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	cytosol|nucleoplasm|SCF ubiquitin ligase complex	ubiquitin protein ligase binding	g.chr7:148457470C>T	U58087	CCDS34772.1	7q36.1	2011-05-24			ENSG00000055130	ENSG00000055130			2551	protein-coding gene	gene with protein product		603134				8681378	Standard	NM_003592		Approved		uc003wey.3	Q13616	OTTHUMG00000152776	ENST00000325222.4:c.671C>T	7.37:g.148457470C>T	ENSP00000326804:p.Thr224Met					CUL1_ENST00000602748.1_Missense_Mutation_p.T224M|CUL1_ENST00000409469.1_Missense_Mutation_p.T224M	p.T224M	NM_003592.2	NP_003583.2	Q13616	CUL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00291)		7	950	+	Melanoma(164;0.15)		224					D3DWG3|O60719|Q08AL6|Q8IYW1	Missense_Mutation	SNP	ENST00000325222.4	37	c.671C>T	CCDS34772.1	.	.	.	.	.	.	.	.	.	.	C	16.71	3.199135	0.58126	.	.	ENSG00000055130	ENST00000409469;ENST00000325222;ENST00000543583;ENST00000433865	T;T	0.74526	-0.85;-0.85	4.84	4.84	0.62591	Cullin, N-terminal (1);Cullin repeat-like-containing domain (1);	0.047325	0.85682	D	0.000000	T	0.66607	0.2806	L	0.39467	1.215	0.80722	D	1	B	0.31153	0.31	B	0.24269	0.052	T	0.68307	-0.5443	10	0.52906	T	0.07	-12.7386	17.2933	0.87163	0.0:1.0:0.0:0.0	.	224	Q13616	CUL1_HUMAN	M	224;224;182;151	ENSP00000387160:T224M;ENSP00000326804:T224M	ENSP00000326804:T224M	T	+	2	0	CUL1	148088403	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.142000	0.77339	2.377000	0.81083	0.585000	0.79938	ACG		0.358	CUL1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467785.1	NM_003592		45	77	0	0	0	1	0	45	77					T	148457470	C	T	148457470	3	4	435	1	0	0	0	0	1	0	0	0	4054	536	19	1	693	1	CUL1	7	148457470	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	30225	148457470	10681193	3865	24790											
ZNF777	27153	broad.mit.edu	37	chr7	149129128	149129128	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggcgtgcggccgctcgcgCgagtgcacgcggcagtggtt	4	6	18	13	8	0	0	0	0	0	0	1	1	0	0	1	4	2	4	1	4	0	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:149129128C>T	ENST00000247930.4	-	6	2558	c.2235G>A	c.(2233-2235)tcG>tcA	p.S745S		NM_015694.2	NP_056509.2	Q9ULD5	ZN777_HUMAN	zinc finger protein 777	745					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			large_intestine(5)|lung(17)|ovary(1)|skin(2)|urinary_tract(1)	26	Melanoma(164;0.165)		OV - Ovarian serous cystadenocarcinoma(82;0.00358)			GCCGCTCGCGCGAGTGCACGC	0.672																																						ENST00000247930.4																			0				large_intestine(5)|lung(17)|ovary(1)|skin(2)|urinary_tract(1)	26						c.(2233-2235)tcG>tcA		zinc finger protein 777							43	51	48					7																	149129128		2203	4299	6502	SO:0001819	synonymous_variant	27153				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:149129128C>T	AB033111	CCDS43675.1	7q36.1	2013-01-08			ENSG00000196453	ENSG00000196453		"Zinc fingers, C2H2-type", "-"	22213	protein-coding gene	gene with protein product							Standard	NM_015694		Approved	KIAA1285	uc003wfv.3	Q9ULD5	OTTHUMG00000158967	ENST00000247930.4:c.2235G>A	7.37:g.149129128C>T							p.S745S	NM_015694.2	NP_056509.2	Q9ULD5	ZN777_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00358)		6	2558	-	Melanoma(164;0.165)		745					Q8N2R2|Q8N659	Silent	SNP	ENST00000247930.4	37	c.2235G>A	CCDS43675.1																																																																																				0.672	ZNF777-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352708.1	NM_015694		31	42	0	0	0	1	0	31	42					T	149129128	C	T	149129128	2	4	435	1	0	0	0	0	0	0	0	1	18147	755	27	1		1	ZNF777	7	149129128	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	671658	149129128	10009535	3866	24791											
ZNF746	155061	broad.mit.edu	37	chr7	149174839	149174839	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tctggggcgggaactgggggCcccgagcctaggaaagggag	8	4	20	9	2	1	0	0	0	1	0	1	4	1	3	3	7	2	0	3	7	3	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:149174839C>T	ENST00000340622.3	-	5	808	c.528G>A	c.(526-528)ggG>ggA	p.G176G	ZNF746_ENST00000458143.2_Silent_p.G176G			Q6NUN9	ZN746_HUMAN	zinc finger protein 746	176					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of neuron death (GO:1901216)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34	Melanoma(164;0.165)		OV - Ovarian serous cystadenocarcinoma(82;0.00358)			GAACTGGGGGCCCCGAGCCTA	0.657																																						ENST00000340622.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						c.(526-528)ggG>ggA		zinc finger protein 746							15	18	17					7																	149174839		2203	4299	6502	SO:0001819	synonymous_variant	155061				negative regulation of transcription, DNA-dependent|neuron death|regulation of cell death|transcription, DNA-dependent	cytoplasm|nucleus	transcription regulatory region DNA binding|ubiquitin protein ligase binding|zinc ion binding	g.chr7:149174839C>T	AK055975	CCDS5897.1, CCDS55180.1	7q36.1	2013-01-08			ENSG00000181220	ENSG00000181220		"Zinc fingers, C2H2-type", "-"	21948	protein-coding gene	gene with protein product		613914					Standard	NM_152557		Approved	FLJ31413	uc010lpi.2	Q6NUN9	OTTHUMG00000158972	ENST00000340622.3:c.528G>A	7.37:g.149174839C>T						ZNF746_ENST00000458143.2_Silent_p.G176G	p.G176G			Q6NUN9	ZN746_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00358)		5	808	-	Melanoma(164;0.165)		176					A8K6Z9|Q6ZRF9	Silent	SNP	ENST00000340622.3	37	c.528G>A	CCDS5897.1																																																																																				0.657	ZNF746-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000352730.1	NM_152557		11	13	0	0	0	1	0	11	13					T	149174839	C	T	149174839	2	4	435	1	0	0	0	0	0	0	0	1	18126	726	26	3		3	ZNF746	7	149174839	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	45711	149174839	9963824	3867	24792											
KRBA1	84626	broad.mit.edu	37	chr7	149416750	149416750	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atgcgggagaactacgagacGctggtctctgtgggtaagga	10	8	16	7	3	1	2	0	0	1	2	2	5	1	3	0	4	3	2	0	4	3	2	rs555803380		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:149416750G>A	ENST00000485033.2	+	1	21	c.21G>A	c.(19-21)acG>acA	p.T7T	KRBA1_ENST00000479560.1_3'UTR|KRBA1_ENST00000255992.10_Silent_p.T7T|KRBA1_ENST00000319551.8_Silent_p.T7T			A5PL33	KRBA1_HUMAN	KRAB-A domain containing 1	7										breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(17)|ovary(1)|prostate(1)	27	Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			ACTACGAGACGCTGGTCTCTG	0.657													G|||	1	0.000199681	0	0	5008	,	,		16162	0		0	False		,,,				2504	0.001					ENST00000255992.10																			0				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(17)|ovary(1)|prostate(1)	27						c.(19-21)acG>acA		KRAB-A domain containing 1							46	59	54					7																	149416750		2130	4257	6387	SO:0001819	synonymous_variant	84626							g.chr7:149416750G>A	AB058765	CCDS75674.1	7q36	2014-02-12	2006-08-15		ENSG00000133619	ENSG00000133619		"-"	22228	protein-coding gene	gene with protein product			"KRAB A domain containing 1"				Standard	NM_001290187		Approved	KIAA1862	uc003wfz.3	A5PL33	OTTHUMG00000157886	ENST00000485033.2:c.21G>A	7.37:g.149416750G>A						KRBA1_ENST00000319551.8_Silent_p.T7T|KRBA1_ENST00000485033.2_Silent_p.T7T|KRBA1_ENST00000479560.1_3'UTR	p.T7T	NM_032534.2	NP_115923.2	A5PL33	KRBA1_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00625)		2	420	+	Melanoma(164;0.165)|Ovarian(565;0.177)		7					A7E2F5|E7ENE9|Q8N4X0|Q96JG5	Silent	SNP	ENST00000485033.2	37	c.21G>A																																																																																					0.657	KRBA1-004	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000349841.3	NM_032534		14	14	0	0	0	1	0	14	14					A	149416750	G	A	149416750	2	1	435	1	0	0	0	0	0	0	0	1	8439	1074	38	1		1	KRBA1	7	149416750	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	241911	149416750	9721913	3868	24793											
KRBA1	84626	broad.mit.edu	37	chr7	149430775	149430775	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagagggaccgctcgccgggCacgtccgctgcctccagacg	6	4	14	17	6	0	2	0	0	0	2	3	3	2	3	5	2	1	3	5	2	0	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:149430775C>T	ENST00000485033.2	+	15	2549	c.2549C>T	c.(2548-2550)gCa>gTa	p.A850V	KRBA1_ENST00000479560.1_3'UTR|KRBA1_ENST00000255992.10_Missense_Mutation_p.A910V|KRBA1_ENST00000319551.8_Missense_Mutation_p.A850V			A5PL33	KRBA1_HUMAN	KRAB-A domain containing 1	911										breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(17)|ovary(1)|prostate(1)	27	Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			GCTCGCCGGGCACGTCCGCTG	0.662																																						ENST00000255992.10																			0				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(17)|ovary(1)|prostate(1)	27						c.(2728-2730)gCa>gTa		KRAB-A domain containing 1							11	14	13					7																	149430775		2174	4257	6431	SO:0001583	missense	84626							g.chr7:149430775C>T	AB058765	CCDS75674.1	7q36	2014-02-12	2006-08-15		ENSG00000133619	ENSG00000133619		"-"	22228	protein-coding gene	gene with protein product			"KRAB A domain containing 1"				Standard	NM_001290187		Approved	KIAA1862	uc003wfz.3	A5PL33	OTTHUMG00000157886	ENST00000485033.2:c.2549C>T	7.37:g.149430775C>T	ENSP00000420112:p.Ala850Val					KRBA1_ENST00000319551.8_Missense_Mutation_p.A850V|KRBA1_ENST00000485033.2_Missense_Mutation_p.A850V|KRBA1_ENST00000479560.1_3'UTR	p.A910V	NM_032534.2	NP_115923.2	A5PL33	KRBA1_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00625)		18	3128	+	Melanoma(164;0.165)|Ovarian(565;0.177)		911					A7E2F5|E7ENE9|Q8N4X0|Q96JG5	Missense_Mutation	SNP	ENST00000485033.2	37	c.2729C>T		.	.	.	.	.	.	.	.	.	.	C	5.408	0.260383	0.10239	.	.	ENSG00000133619	ENST00000255992;ENST00000319551;ENST00000485033	T;T;T	0.23552	1.9;1.92;1.92	4.82	1.14	0.20703	.	0.409237	0.18092	N	0.151945	T	0.09905	0.0243	.	.	.	0.09310	N	1	B;B	0.09022	0.002;0.002	B;B	0.06405	0.002;0.002	T	0.37526	-0.9702	9	0.07990	T	0.79	-2.6551	6.177	0.20449	0.0:0.3643:0.0:0.6357	.	850;911	E7ENE9;A5PL33	.;KRBA1_HUMAN	V	910;850;850	ENSP00000255992:A910V;ENSP00000317165:A850V;ENSP00000420112:A850V	ENSP00000255992:A910V	A	+	2	0	KRBA1	149061708	0.037000	0.19845	0.001000	0.08648	0.001000	0.01503	0.171000	0.16685	-0.037000	0.13646	-0.320000	0.08662	GCA		0.662	KRBA1-004	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000349841.3	NM_032534		4	4	0	0	0	1	0	4	4					T	149430775	C	T	149430775	3	4	435	1	0	0	0	0	1	0	0	0	8439	710	25	3	2793	3	KRBA1	7	149430775	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	14025	149430775	9707888	3869	24794											
ZNF467	168544	broad.mit.edu	37	chr7	149461873	149461873	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gggccgcaagggcggcgtccGgggccgcgtgggcggcttcg	2	4	22	13	8	0	0	0	0	0	0	2	0	1	0	3	7	0	2	3	7	1	1	rs575548240	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:149461873G>A	ENST00000302017.3	-	5	2131	c.1718C>T	c.(1717-1719)cCg>cTg	p.P573L	ZNF467_ENST00000484747.1_Intron	NM_207336.1	NP_997219.1	Q7Z7K2	ZN467_HUMAN	zinc finger protein 467	573					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|kidney(1)|large_intestine(2)|liver(1)|lung(7)|urinary_tract(1)	13	Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			GGCGGCGTCCGGGGCCGCGTG	0.706													G|||	6	0.00119808	0	0	5008	,	,		10727	0.006		0	False		,,,				2504	0					ENST00000302017.3																			0				central_nervous_system(1)|kidney(1)|large_intestine(2)|liver(1)|lung(7)|urinary_tract(1)	13						c.(1717-1719)cCg>cTg		zinc finger protein 467							12	14	13					7																	149461873		2007	4130	6137	SO:0001583	missense	168544				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:149461873G>A	BC029296	CCDS5899.1	7q36.1	2013-01-08			ENSG00000181444	ENSG00000181444		"Zinc fingers, C2H2-type"	23154	protein-coding gene	gene with protein product		614040				12426389	Standard	NM_207336		Approved	EZI, Zfp467	uc003wgd.2	Q7Z7K2	OTTHUMG00000157883	ENST00000302017.3:c.1718C>T	7.37:g.149461873G>A	ENSP00000304769:p.Pro573Leu					ZNF467_ENST00000484747.1_Intron	p.P573L	NM_207336.1	NP_997219.1	Q7Z7K2	ZN467_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00625)		5	2131	-	Melanoma(164;0.165)|Ovarian(565;0.177)		573						Missense_Mutation	SNP	ENST00000302017.3	37	c.1718C>T	CCDS5899.1	.	.	.	.	.	.	.	.	.	.	G	4.093	0.015249	0.07959	.	.	ENSG00000181444	ENST00000302017	T	0.08193	3.12	3.96	2.97	0.34412	.	1.765670	0.04033	N	0.301894	T	0.06554	0.0168	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.14699	-1.0463	10	0.41790	T	0.15	-10.9533	7.6519	0.28352	0.1066:0.1723:0.721:0.0	.	573	Q7Z7K2	ZN467_HUMAN	L	573	ENSP00000304769:P573L	ENSP00000304769:P573L	P	-	2	0	ZNF467	149092806	0.029000	0.19370	0.007000	0.13788	0.027000	0.11550	1.473000	0.35387	2.068000	0.61886	0.457000	0.33378	CCG		0.706	ZNF467-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349833.1	NM_207336		10	13	0	0	0	1	0	10	13					A	149461873	G	A	149461873	3	1	435	1	0	0	0	0	1	0	0	0	17924	1116	39	2	73	2	ZNF467	7	149461873	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	31098	149461873	9676790	3870	24795											
ZNF467	168544	broad.mit.edu	37	chr7	149462733	149462733	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgcgctggtgccgaatcaaGtgcgtcttcttgcgaaagcg	8	10	13	10	5	3	0	1	0	2	0	3	2	3	0	1	1	5	1	1	1	3	2	rs3194380		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:149462733G>A	ENST00000302017.3	-	5	1271	c.858C>T	c.(856-858)caC>caT	p.H286H	ZNF467_ENST00000484747.1_Intron	NM_207336.1	NP_997219.1	Q7Z7K2	ZN467_HUMAN	zinc finger protein 467	286					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|kidney(1)|large_intestine(2)|liver(1)|lung(7)|urinary_tract(1)	13	Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			GCCGAATCAAGTGCGTCTTCT	0.622																																						ENST00000302017.3																			0				central_nervous_system(1)|kidney(1)|large_intestine(2)|liver(1)|lung(7)|urinary_tract(1)	13						c.(856-858)caC>caT		zinc finger protein 467							39	24	29					7																	149462733		2203	4299	6502	SO:0001819	synonymous_variant	168544				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:149462733G>A	BC029296	CCDS5899.1	7q36.1	2013-01-08			ENSG00000181444	ENSG00000181444		"Zinc fingers, C2H2-type"	23154	protein-coding gene	gene with protein product		614040				12426389	Standard	NM_207336		Approved	EZI, Zfp467	uc003wgd.2	Q7Z7K2	OTTHUMG00000157883	ENST00000302017.3:c.858C>T	7.37:g.149462733G>A						ZNF467_ENST00000484747.1_Intron	p.H286H	NM_207336.1	NP_997219.1	Q7Z7K2	ZN467_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00625)		5	1271	-	Melanoma(164;0.165)|Ovarian(565;0.177)		286						Silent	SNP	ENST00000302017.3	37	c.858C>T	CCDS5899.1																																																																																				0.622	ZNF467-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349833.1	NM_207336		5	6	0	0	0	1	0	5	6					A	149462733	G	A	149462733	2	1	435	1	0	0	0	0	0	0	0	1	17924	1020	36	3		3	ZNF467	7	149462733	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	860	149462733	9675930	3871	24796											
SSPO	23145	broad.mit.edu	37	chr7	149477549	149477549	+	RNA	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gtacccggtgacaccgtgcgCcagctgtgtaacccctggtg	6	8	13	14	3	0	1	0	1	0	0	0	1	0	1	5	2	4	3	5	2	2	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:149477549C>T	ENST00000378016.2	+	0	1620							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion (GO:0007155)	extracellular space (GO:0005615)	peptidase inhibitor activity (GO:0030414)					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			ACACCGTGCGCCAGCTGTGTA	0.642																																						ENST00000378016.2																			0													SCO-spondin							31	37	35					7																	149477549		2128	4237	6365			23145				cell adhesion	extracellular space	peptidase inhibitor activity	g.chr7:149477549C>T	AK093431		7q36.1	2013-08-07	2013-08-06		ENSG00000197558	ENSG00000197558			21998	protein-coding gene	gene with protein product	"subcommissural organ spondin", "SCO protein, thrombospondin domain containing"		"SCO-spondin homolog (Bos taurus)"			8743952, 11008217	Standard	NM_198455		Approved	SCO-spondin, KIAA0543, FLJ36112	uc010lpk.3	A2VEC9	OTTHUMG00000157884		7.37:g.149477549C>T										A2VEC9	SSPO_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00625)		0	1620	+	Melanoma(164;0.165)|Ovarian(565;0.177)							Q76B61	RNA	SNP	ENST00000378016.2	37																																																																																						0.642	SSPO-202	KNOWN	basic	processed_transcript	processed_transcript				9	12	0	0	0	1	0	9	12					T	149477549	C	T	149477549	1	4	435	0	1	0	0	0	0	0	0	0	15188	726	26	3		3	SSPO	7	149477549	RNA	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	14816	149477549	9661114	3872	24797											
SSPO	23145	broad.mit.edu	37	chr7	149482663	149482663	+	RNA	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cccactatgtgacatttgacGgactggccttcacctatcct	8	12	7	14	1	1	2	1	2	0	0	2	3	2	3	4	2	0	0	4	2	2	4	rs561226364		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:149482663G>A	ENST00000378016.2	+	0	3079							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion (GO:0007155)	extracellular space (GO:0005615)	peptidase inhibitor activity (GO:0030414)					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			GACATTTGACGGACTGGCCTT	0.662																																						ENST00000378016.2																			0													SCO-spondin							24	28	27					7																	149482663		2013	4156	6169			23145				cell adhesion	extracellular space	peptidase inhibitor activity	g.chr7:149482663G>A	AK093431		7q36.1	2013-08-07	2013-08-06		ENSG00000197558	ENSG00000197558			21998	protein-coding gene	gene with protein product	"subcommissural organ spondin", "SCO protein, thrombospondin domain containing"		"SCO-spondin homolog (Bos taurus)"			8743952, 11008217	Standard	NM_198455		Approved	SCO-spondin, KIAA0543, FLJ36112	uc010lpk.3	A2VEC9	OTTHUMG00000157884		7.37:g.149482663G>A										A2VEC9	SSPO_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00625)		0	3079	+	Melanoma(164;0.165)|Ovarian(565;0.177)							Q76B61	RNA	SNP	ENST00000378016.2	37																																																																																						0.662	SSPO-202	KNOWN	basic	processed_transcript	processed_transcript				4	7	0	0	0	1	0	4	7					A	149482663	G	A	149482663	1	1	435	0	1	0	0	0	0	0	0	0	15188	1117	39	2		2	SSPO	7	149482663	RNA	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	5114	149482663	9656000	3873	24798											
SSPO	23145	broad.mit.edu	37	chr7	149485513	149485513	+	RNA	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggtggcactgccaggtggtgGcctgtgtggagggctgcttc	3	10	19	9	0	0	0	0	0	0	0	1	1	0	1	2	7	2	3	2	7	0	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:149485513G>A	ENST00000378016.2	+	0	3919							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion (GO:0007155)	extracellular space (GO:0005615)	peptidase inhibitor activity (GO:0030414)					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CCAGGTGGTGGCCTGTGTGGA	0.657																																						ENST00000378016.2																			0													SCO-spondin							36	45	42					7																	149485513		2116	4211	6327			23145				cell adhesion	extracellular space	peptidase inhibitor activity	g.chr7:149485513G>A	AK093431		7q36.1	2013-08-07	2013-08-06		ENSG00000197558	ENSG00000197558			21998	protein-coding gene	gene with protein product	"subcommissural organ spondin", "SCO protein, thrombospondin domain containing"		"SCO-spondin homolog (Bos taurus)"			8743952, 11008217	Standard	NM_198455		Approved	SCO-spondin, KIAA0543, FLJ36112	uc010lpk.3	A2VEC9	OTTHUMG00000157884		7.37:g.149485513G>A										A2VEC9	SSPO_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00625)		0	3919	+	Melanoma(164;0.165)|Ovarian(565;0.177)							Q76B61	RNA	SNP	ENST00000378016.2	37																																																																																						0.657	SSPO-202	KNOWN	basic	processed_transcript	processed_transcript				6	10	0	0	0	1	0	6	10					A	149485513	G	A	149485513	1	1	435	0	1	0	0	0	0	0	0	0	15188	1203	42	3		3	SSPO	7	149485513	RNA	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	2850	149485513	9653150	3874	24799											
SSPO	23145	broad.mit.edu	37	chr7	149486411	149486411	+	RNA	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctggcctgtgccgatggaCgctgcctgccgccggccctg	2	8	15	16	4	0	0	0	0	0	0	0	2	0	1	6	3	4	2	6	3	0	0	rs372779510		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:149486411C>T	ENST00000378016.2	+	0	4387							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion (GO:0007155)	extracellular space (GO:0005615)	peptidase inhibitor activity (GO:0030414)					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			TGCCGATGGACGCTGCCTGCC	0.682																																						ENST00000378016.2																			0													SCO-spondin		C		0,4400		0,0,2200	21	25	23		4391	2.7	0.6	7		23	1,8583		0,1,4291	no	coding-notMod3	SSPO	NM_198455.2		0,1,6491	TT,TC,CC		0.0116,0.0,0.0077			149486411	1,12983	2200	4292	6492			23145				cell adhesion	extracellular space	peptidase inhibitor activity	g.chr7:149486411C>T	AK093431		7q36.1	2013-08-07	2013-08-06		ENSG00000197558	ENSG00000197558			21998	protein-coding gene	gene with protein product	"subcommissural organ spondin", "SCO protein, thrombospondin domain containing"		"SCO-spondin homolog (Bos taurus)"			8743952, 11008217	Standard	NM_198455		Approved	SCO-spondin, KIAA0543, FLJ36112	uc010lpk.3	A2VEC9	OTTHUMG00000157884		7.37:g.149486411C>T										A2VEC9	SSPO_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00625)		0	4387	+	Melanoma(164;0.165)|Ovarian(565;0.177)							Q76B61	RNA	SNP	ENST00000378016.2	37																																																																																						0.682	SSPO-202	KNOWN	basic	processed_transcript	processed_transcript				8	16	0	0	0	1	0	8	16					T	149486411	C	T	149486411	1	4	435	0	1	0	0	0	0	0	0	0	15188	536	19	1		1	SSPO	7	149486411	RNA	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	898	149486411	9652252	3875	24800											
SSPO	23145	broad.mit.edu	37	chr7	149500345	149500345	+	RNA	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gggccgtgtgtatgtgagtgCcgatctgtgccagaaggggc	6	9	18	8	2	1	2	0	1	1	1	1	3	1	2	3	3	2	1	3	3	2	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:149500345C>T	ENST00000378016.2	+	0	7871							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion (GO:0007155)	extracellular space (GO:0005615)	peptidase inhibitor activity (GO:0030414)					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			TATGTGAGTGCCGATCTGTGC	0.652																																						ENST00000378016.2																			0													SCO-spondin							48	58	54					7																	149500345		2156	4258	6414			23145				cell adhesion	extracellular space	peptidase inhibitor activity	g.chr7:149500345C>T	AK093431		7q36.1	2013-08-07	2013-08-06		ENSG00000197558	ENSG00000197558			21998	protein-coding gene	gene with protein product	"subcommissural organ spondin", "SCO protein, thrombospondin domain containing"		"SCO-spondin homolog (Bos taurus)"			8743952, 11008217	Standard	NM_198455		Approved	SCO-spondin, KIAA0543, FLJ36112	uc010lpk.3	A2VEC9	OTTHUMG00000157884		7.37:g.149500345C>T										A2VEC9	SSPO_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00625)		0	7871	+	Melanoma(164;0.165)|Ovarian(565;0.177)							Q76B61	RNA	SNP	ENST00000378016.2	37																																																																																						0.652	SSPO-202	KNOWN	basic	processed_transcript	processed_transcript				4	6	0	0	0	1	0	4	6					T	149500345	C	T	149500345	1	4	435	0	1	0	0	0	0	0	0	0	15188	739	26	3		3	SSPO	7	149500345	RNA	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	13934	149500345	9638318	3876	24801											
ZNF862	643641	broad.mit.edu	37	chr7	149558272	149558272	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atgggtacttcgagaccatcGtttctgccctggatgagctg	7	12	12	10	2	1	2	0	1	1	1	3	4	1	3	2	2	3	3	2	2	1	3	rs373741766		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:149558272G>A	ENST00000223210.4	+	7	2268	c.2023G>A	c.(2023-2025)Gtt>Att	p.V675I	RP4-751H13.7_ENST00000608963.1_RNA	NM_001099220.1	NP_001092690.1	O60290	ZN862_HUMAN	zinc finger protein 862	675					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|skin(1)	34						CGAGACCATCGTTTCTGCCCT	0.572																																						ENST00000223210.4																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|skin(1)	34						c.(2023-2025)Gtt>Att		zinc finger protein 862		G	ILE/VAL	0,4146		0,0,2073	28	30	29		2023	-1.6	0.5	7		29	1,8411		0,1,4205	no	missense	ZNF862	NM_001099220.1	29	0,1,6278	AA,AG,GG		0.0119,0.0,0.0080	benign	675/1170	149558272	1,12557	2073	4206	6279	SO:0001583	missense	643641				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|nucleic acid binding|protein dimerization activity	g.chr7:149558272G>A	AB011115	CCDS47741.1	7q36.1	2013-01-11			ENSG00000106479	ENSG00000106479		"Zinc fingers, C2H2-type", "-"	34519	protein-coding gene	gene with protein product							Standard	NM_001099220		Approved		uc010lpn.3	O60290	OTTHUMG00000158093	ENST00000223210.4:c.2023G>A	7.37:g.149558272G>A	ENSP00000223210:p.Val675Ile						p.V675I	NM_001099220.1	NP_001092690.1	O60290	ZN862_HUMAN			7	2268	+			675					A0AUL8	Missense_Mutation	SNP	ENST00000223210.4	37	c.2023G>A	CCDS47741.1	.	.	.	.	.	.	.	.	.	.	G	0.085	-1.176528	0.01646	0.0	1.19E-4	ENSG00000106479	ENST00000223210	T	0.20598	2.06	5.17	-1.57	0.08506	Ribonuclease H-like (1);	0.507014	0.17932	N	0.157126	T	0.04003	0.0112	N	0.00347	-1.61	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.43212	-0.9405	10	0.10902	T	0.67	-24.9884	9.3868	0.38347	0.4829:0.0:0.5171:0.0	.	675	O60290	ZN862_HUMAN	I	675	ENSP00000223210:V675I	ENSP00000223210:V675I	V	+	1	0	ZNF862	149189205	0.001000	0.12720	0.486000	0.27416	0.948000	0.59901	-0.698000	0.05092	-0.578000	0.05959	-0.150000	0.13652	GTT		0.572	ZNF862-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350165.1	NM_001099220		8	15	0	0	0	1	0	8	15					A	149558272	G	A	149558272	3	1	435	1	0	0	0	0	1	0	0	0	18192	1145	40	1	2049	1	ZNF862	7	149558272	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	57927	149558272	9580391	3877	24802											
ZNF862	643641	broad.mit.edu	37	chr7	149558856	149558856	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtgctgattacagaggtgaaCgccacgctgggccgcgccta	8	7	14	12	4	0	3	0	2	0	1	0	3	0	3	3	2	3	2	3	2	3	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:149558856C>T	ENST00000223210.4	+	7	2852	c.2607C>T	c.(2605-2607)aaC>aaT	p.N869N	RP4-751H13.7_ENST00000608963.1_RNA	NM_001099220.1	NP_001092690.1	O60290	ZN862_HUMAN	zinc finger protein 862	869					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|skin(1)	34						CAGAGGTGAACGCCACGCTGG	0.587																																						ENST00000223210.4																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|skin(1)	34						c.(2605-2607)aaC>aaT		zinc finger protein 862							31	34	33					7																	149558856		2125	4227	6352	SO:0001819	synonymous_variant	643641				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|nucleic acid binding|protein dimerization activity	g.chr7:149558856C>T	AB011115	CCDS47741.1	7q36.1	2013-01-11			ENSG00000106479	ENSG00000106479		"Zinc fingers, C2H2-type", "-"	34519	protein-coding gene	gene with protein product							Standard	NM_001099220		Approved		uc010lpn.3	O60290	OTTHUMG00000158093	ENST00000223210.4:c.2607C>T	7.37:g.149558856C>T							p.N869N	NM_001099220.1	NP_001092690.1	O60290	ZN862_HUMAN			7	2852	+			869					A0AUL8	Silent	SNP	ENST00000223210.4	37	c.2607C>T	CCDS47741.1																																																																																				0.587	ZNF862-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350165.1	NM_001099220		9	5	0	0	0	1	0	9	5					T	149558856	C	T	149558856	2	4	435	1	0	0	0	0	0	0	0	1	18192	535	19	1		1	ZNF862	7	149558856	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	584	149558856	9579807	3878	24803											
LRRC61	65999	broad.mit.edu	37	chr7	150034640	150034640	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caggacacactgcaggagtgCtgggacctggaccgccaggc	9	4	15	13	1	0	0	0	0	0	0	0	4	0	4	3	5	2	2	3	5	0	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:150034640C>A	ENST00000359623.4	+	3	1278	c.690C>A	c.(688-690)tgC>tgA	p.C230*	LRRC61_ENST00000323078.7_Nonsense_Mutation_p.C230*|LRRC61_ENST00000493307.1_Nonsense_Mutation_p.C230*	NM_001142928.1	NP_001136400.1	Q9BV99	LRC61_HUMAN	leucine rich repeat containing 61	230										endometrium(2)|large_intestine(1)|skin(1)|upper_aerodigestive_tract(1)	5			OV - Ovarian serous cystadenocarcinoma(82;0.011)			TGCAGGAGTGCTGGGACCTGG	0.677																																						ENST00000359623.4																			0				endometrium(2)|large_intestine(1)|skin(1)|upper_aerodigestive_tract(1)	5						c.(688-690)tgC>tgA		leucine rich repeat containing 61							14	16	15					7																	150034640		2194	4290	6484	SO:0001587	stop_gained	65999							g.chr7:150034640C>A	BC001354	CCDS5901.1	7q31-q35	2006-02-07			ENSG00000127399	ENSG00000127399			21704	protein-coding gene	gene with protein product							Standard	NM_023942		Approved	MGC3036, FLJ31392, HSPC295	uc003wgv.4	Q9BV99	OTTHUMG00000158326	ENST00000359623.4:c.690C>A	7.37:g.150034640C>A	ENSP00000352642:p.Cys230*					LRRC61_ENST00000323078.7_Nonsense_Mutation_p.C230*|LRRC61_ENST00000493307.1_Nonsense_Mutation_p.C230*	p.C230*	NM_001142928.1	NP_001136400.1	Q9BV99	LRC61_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.011)		3	1278	+			230					B3KUW0|D3DWY8	Nonsense_Mutation	SNP	ENST00000359623.4	37	c.690C>A	CCDS5901.1	.	.	.	.	.	.	.	.	.	.	C	38	6.816315	0.97861	.	.	ENSG00000127399	ENST00000323078;ENST00000359623;ENST00000493307	.	.	.	3.97	2.1	0.27182	.	0.069211	0.64402	U	0.000013	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-21.2326	8.251	0.31717	0.0:0.7925:0.0:0.2075	.	.	.	.	X	230	.	ENSP00000339047:C230X	C	+	3	2	LRRC61	149665573	0.118000	0.22208	0.537000	0.28052	0.693000	0.40251	0.249000	0.18216	0.904000	0.36572	0.306000	0.20318	TGC		0.677	LRRC61-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350696.1	NM_023942		10	13	1	0	0.00621372	1	0.00628055	10	13					A	150034640	C	A	150034640	4	1	435	1	0	0	0	0	0	1	0	0	9017	805	28	5	692	5	LRRC61	7	150034640	Nonsense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	475784	150034640	9104023	3879	24804											
RARRES2	5919	broad.mit.edu	37	chr7	150036112	150036112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctatggggcagtggaccaacCggcccagaactttgtcctca	9	8	11	13	1	1	1	1	0	0	1	2	2	2	2	4	4	2	1	4	4	3	2	rs369499714		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:150036112C>T	ENST00000466675.1	-	3	1371	c.338G>A	c.(337-339)cGg>cAg	p.R113Q	RP4-584D14.7_ENST00000563946.1_RNA|RARRES2_ENST00000223271.3_Missense_Mutation_p.R113Q|RARRES2_ENST00000482669.1_Missense_Mutation_p.R113Q			Q99969	RARR2_HUMAN	retinoic acid receptor responder (tazarotene induced) 2	113					brown fat cell differentiation (GO:0050873)|chemotaxis (GO:0006935)|embryonic digestive tract development (GO:0048566)|in utero embryonic development (GO:0001701)|inflammatory response (GO:0006954)|positive regulation of chemotaxis (GO:0050921)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of glucose import in response to insulin stimulus (GO:2001275)|positive regulation of macrophage chemotaxis (GO:0010759)|positive regulation of protein phosphorylation (GO:0001934)|regulation of lipid catabolic process (GO:0050994)|retinoid metabolic process (GO:0001523)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	receptor binding (GO:0005102)			endometrium(1)|large_intestine(1)|lung(1)|pancreas(1)|skin(1)	5			OV - Ovarian serous cystadenocarcinoma(82;0.011)			GTGGACCAACCGGCCCAGAAC	0.597																																						ENST00000466675.1																			0				endometrium(1)|large_intestine(1)|lung(1)|pancreas(1)|skin(1)	5						c.(337-339)cGg>cAg		retinoic acid receptor responder (tazarotene induced) 2		C	GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	128	116	120		338	3.1	1	7		120	1,8599	1.2+/-3.3	0,1,4299	no	missense	RARRES2	NM_002889.3	43	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	possibly-damaging	113/164	150036112	2,13004	2203	4300	6503	SO:0001583	missense	0				embryonic digestive tract development|in utero embryonic development|positive regulation of macrophage chemotaxis|retinoid metabolic process	extracellular matrix	receptor binding	g.chr7:150036112C>T	U77594	CCDS5902.1	7q36.1	2013-02-25			ENSG00000106538	ENSG00000106538		"Endogenous ligands"	9868	protein-coding gene	gene with protein product	"chemerin"	601973				9270552, 17767914	Standard	NM_002889		Approved	TIG2, HP10433	uc003wha.3	Q99969	OTTHUMG00000158325	ENST00000466675.1:c.338G>A	7.37:g.150036112C>T	ENSP00000418009:p.Arg113Gln					RARRES2_ENST00000482669.1_Missense_Mutation_p.R113Q|RARRES2_ENST00000223271.3_Missense_Mutation_p.R113Q	p.R113Q			Q99969	RARR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.011)		3	1371	-			113					Q7LE02	Missense_Mutation	SNP	ENST00000466675.1	37	c.338G>A	CCDS5902.1	.	.	.	.	.	.	.	.	.	.	C	9.348	1.064705	0.20067	2.27E-4	1.16E-4	ENSG00000106538	ENST00000223271;ENST00000467793;ENST00000466675;ENST00000482669	.	.	.	4.04	3.06	0.35304	.	0.343063	0.20824	N	0.085013	T	0.19725	0.0474	L	0.41824	1.3	0.30553	N	0.765297	P	0.38745	0.645	B	0.19946	0.027	T	0.17258	-1.0375	9	0.41790	T	0.15	-41.824	5.9216	0.19086	0.0:0.8528:0.0:0.1472	.	113	Q99969	RARR2_HUMAN	Q	113	.	ENSP00000223271:R113Q	R	-	2	0	RARRES2	149667045	0.999000	0.42202	1.000000	0.80357	0.064000	0.16182	1.390000	0.34464	2.109000	0.64355	0.306000	0.20318	CGG		0.597	RARRES2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350693.1			27	57	0	0	0	1	0	27	57					T	150036112	C	T	150036112	3	4	435	1	0	0	0	0	1	0	0	0	13056	652	23	2	161	2	RARRES2	7	150036112	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	1472	150036112	9102551	3880	24805											
REPIN1	29803	broad.mit.edu	37	chr7	150069766	150069766	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctacctggcggcgcaccggcGcatccacaccggcgagaagc	8	3	13	17	6	0	1	0	0	0	1	1	2	1	1	4	4	2	2	4	4	2	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:150069766G>A	ENST00000425389.2	+	1	1514	c.1436G>A	c.(1435-1437)cGc>cAc	p.R479H	REPIN1_ENST00000479668.1_3'UTR|REPIN1_ENST00000397281.2_Missense_Mutation_p.R479H|REPIN1_ENST00000540729.1_Missense_Mutation_p.R479H|REPIN1_ENST00000489432.2_Missense_Mutation_p.R536H|RP4-584D14.5_ENST00000488310.1_RNA|REPIN1_ENST00000444957.1_Missense_Mutation_p.R479H	NM_014374.3	NP_055189.2	Q9BWE0	REPI1_HUMAN	replication initiator 1	479					DNA replication (GO:0006260)|regulation of fatty acid transport (GO:2000191)|regulation of glucose import in response to insulin stimulus (GO:2001273)	cytosolic ribosome (GO:0022626)|lipid particle (GO:0005811)|nuclear membrane (GO:0031965)|nuclear origin of replication recognition complex (GO:0005664)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			cervix(2)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	14	Ovarian(565;0.183)|Melanoma(164;0.226)		OV - Ovarian serous cystadenocarcinoma(82;0.011)			GCGCACCGGCGCATCCACACC	0.701																																						ENST00000397281.2																			0				cervix(2)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	14						c.(1435-1437)cGc>cAc		replication initiator 1							32	39	37					7																	150069766		2198	4298	6496	SO:0001583	missense	29803				DNA replication	nuclear origin of replication recognition complex	DNA binding|zinc ion binding	g.chr7:150069766G>A	AF201303	CCDS43677.1, CCDS47745.1	7q36.1	2013-01-08	2003-08-07	2003-08-08				"Zinc fingers, C2H2-type"	17922	protein-coding gene	gene with protein product	"replication initiation region protein (60kD)", "zinc finger protein AP4", "zinc finger protein 464 (RIP60)"		"zinc finger protein 464 (RIP60)"	ZNF464		10606657	Standard	NM_013400		Approved	RIP60, AP4, H_DJ0584D14.12, Zfp464	uc010lpr.1	Q9BWE0		ENST00000425389.2:c.1436G>A	7.37:g.150069766G>A	ENSP00000388287:p.Arg479His					REPIN1_ENST00000489432.2_Missense_Mutation_p.R536H|REPIN1_ENST00000479668.1_3'UTR|REPIN1_ENST00000444957.1_Missense_Mutation_p.R479H|REPIN1_ENST00000540729.1_Missense_Mutation_p.R479H|REPIN1_ENST00000425389.2_Missense_Mutation_p.R479H	p.R479H	NM_013400.3	NP_037532.2	Q9BWE0	REPI1_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.011)		4	1925	+	Ovarian(565;0.183)|Melanoma(164;0.226)		479					C9J3L7|D3DWZ1|Q7LE03|Q9BUZ6|Q9NZH2|Q9UMP5	Missense_Mutation	SNP	ENST00000425389.2	37	c.1436G>A	CCDS43677.1	.	.	.	.	.	.	.	.	.	.	G	17.22	3.335155	0.60853	.	.	ENSG00000214022	ENST00000540729;ENST00000397281;ENST00000444957;ENST00000489432;ENST00000425389	T;T;T;T;T	0.02446	4.29;4.29;4.29;4.29;4.29	4.11	4.11	0.48088	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.14743	0.0356	M	0.87269	2.87	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.977;0.997	T	0.00064	-1.2150	9	0.87932	D	0	-26.776	7.6633	0.28415	0.1137:0.0:0.8863:0.0	.	536;479	C9J3L7;Q9BWE0	.;REPI1_HUMAN	H	479;479;479;536;479	ENSP00000445016:R479H;ENSP00000380451:R479H;ENSP00000407714:R479H;ENSP00000417291:R536H;ENSP00000388287:R479H	ENSP00000380451:R479H	R	+	2	0	REPIN1	149700699	0.996000	0.38824	1.000000	0.80357	0.994000	0.84299	2.371000	0.44248	2.142000	0.66516	0.462000	0.41574	CGC		0.701	REPIN1-018	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000376940.1	NM_014374		20	27	0	0	0	1	0	20	27					A	150069766	G	A	150069766	3	1	435	1	0	0	0	0	1	0	0	0	13227	1087	38	1	1613	1	REPIN1	7	150069766	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	33654	150069766	9068897	3881	24806											
REPIN1	29803	broad.mit.edu	37	chr7	150069895	150069895	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgcctgtcccgactgcgaccGcagcttcagccagaagtcca	8	6	10	17	4	1	1	1	0	0	1	3	3	3	1	5	0	3	2	5	0	1	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:150069895G>A	ENST00000425389.2	+	1	1643	c.1565G>A	c.(1564-1566)cGc>cAc	p.R522H	REPIN1_ENST00000479668.1_3'UTR|REPIN1_ENST00000397281.2_Missense_Mutation_p.R522H|REPIN1_ENST00000540729.1_Missense_Mutation_p.R522H|REPIN1_ENST00000489432.2_Missense_Mutation_p.R579H|RP4-584D14.5_ENST00000488310.1_RNA|REPIN1_ENST00000444957.1_Missense_Mutation_p.R522H	NM_014374.3	NP_055189.2	Q9BWE0	REPI1_HUMAN	replication initiator 1	522					DNA replication (GO:0006260)|regulation of fatty acid transport (GO:2000191)|regulation of glucose import in response to insulin stimulus (GO:2001273)	cytosolic ribosome (GO:0022626)|lipid particle (GO:0005811)|nuclear membrane (GO:0031965)|nuclear origin of replication recognition complex (GO:0005664)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			cervix(2)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	14	Ovarian(565;0.183)|Melanoma(164;0.226)		OV - Ovarian serous cystadenocarcinoma(82;0.011)			GACTGCGACCGCAGCTTCAGC	0.657																																						ENST00000397281.2																			0				cervix(2)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	14						c.(1564-1566)cGc>cAc		replication initiator 1							45	52	50					7																	150069895		2199	4299	6498	SO:0001583	missense	29803				DNA replication	nuclear origin of replication recognition complex	DNA binding|zinc ion binding	g.chr7:150069895G>A	AF201303	CCDS43677.1, CCDS47745.1	7q36.1	2013-01-08	2003-08-07	2003-08-08				"Zinc fingers, C2H2-type"	17922	protein-coding gene	gene with protein product	"replication initiation region protein (60kD)", "zinc finger protein AP4", "zinc finger protein 464 (RIP60)"		"zinc finger protein 464 (RIP60)"	ZNF464		10606657	Standard	NM_013400		Approved	RIP60, AP4, H_DJ0584D14.12, Zfp464	uc010lpr.1	Q9BWE0		ENST00000425389.2:c.1565G>A	7.37:g.150069895G>A	ENSP00000388287:p.Arg522His					REPIN1_ENST00000489432.2_Missense_Mutation_p.R579H|REPIN1_ENST00000479668.1_3'UTR|REPIN1_ENST00000444957.1_Missense_Mutation_p.R522H|REPIN1_ENST00000540729.1_Missense_Mutation_p.R522H|REPIN1_ENST00000425389.2_Missense_Mutation_p.R522H	p.R522H	NM_013400.3	NP_037532.2	Q9BWE0	REPI1_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.011)		4	2054	+	Ovarian(565;0.183)|Melanoma(164;0.226)		522					C9J3L7|D3DWZ1|Q7LE03|Q9BUZ6|Q9NZH2|Q9UMP5	Missense_Mutation	SNP	ENST00000425389.2	37	c.1565G>A	CCDS43677.1	.	.	.	.	.	.	.	.	.	.	G	17.61	3.432131	0.62844	.	.	ENSG00000214022	ENST00000540729;ENST00000397281;ENST00000444957;ENST00000489432;ENST00000425389	T;T;T;T;T	0.19669	2.13;2.13;2.13;2.13;2.13	3.95	3.95	0.45737	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.39963	0.1098	M	0.73372	2.23	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.71414	0.96;0.973	T	0.26467	-1.0102	9	0.87932	D	0	-22.6129	7.3806	0.26854	0.1168:0.0:0.8832:0.0	.	579;522	C9J3L7;Q9BWE0	.;REPI1_HUMAN	H	522;522;522;579;522	ENSP00000445016:R522H;ENSP00000380451:R522H;ENSP00000407714:R522H;ENSP00000417291:R579H;ENSP00000388287:R522H	ENSP00000380451:R522H	R	+	2	0	REPIN1	149700828	0.000000	0.05858	1.000000	0.80357	0.994000	0.84299	1.061000	0.30542	2.059000	0.61396	0.563000	0.77884	CGC		0.657	REPIN1-018	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000376940.1	NM_014374		16	25	0	0	0	1	0	16	25					A	150069895	G	A	150069895	3	1	435	1	0	0	0	0	1	0	0	0	13227	1087	38	1	1742	1	REPIN1	7	150069895	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	129	150069895	9068768	3882	24807											
ZNF775	285971	broad.mit.edu	37	chr7	150093913	150093913	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atgcctggactgcgggaagaGgttcagctggtggtcgtccc	6	9	16	10	2	1	1	1	0	0	1	3	3	2	3	2	5	3	2	2	5	1	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:150093913G>A	ENST00000329630.5	+	3	451	c.344G>A	c.(343-345)aGg>aAg	p.R115K		NM_173680.3	NP_775951.2	Q96BV0	ZN775_HUMAN	zinc finger protein 775	115					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(7)|skin(1)	11	Ovarian(565;0.183)|Melanoma(164;0.226)		OV - Ovarian serous cystadenocarcinoma(82;0.0173)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TGCGGGAAGAGGTTCAGCTGG	0.682																																						ENST00000329630.5																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(7)|skin(1)	11						c.(343-345)aGg>aAg		zinc finger protein 775							13	17	15					7																	150093913		2158	4282	6440	SO:0001583	missense	285971				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:150093913G>A	BC038111	CCDS43678.1	7q36.1	2013-01-08			ENSG00000196456	ENSG00000196456		"Zinc fingers, C2H2-type"	28501	protein-coding gene	gene with protein product						12477932	Standard	NM_173680		Approved	MGC33584	uc003whf.1	Q96BV0	OTTHUMG00000158324	ENST00000329630.5:c.344G>A	7.37:g.150093913G>A	ENSP00000330838:p.Arg115Lys						p.R115K	NM_173680.3	NP_775951.2	Q96BV0	ZN775_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0173)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	3	451	+	Ovarian(565;0.183)|Melanoma(164;0.226)		115					Q8IY24	Missense_Mutation	SNP	ENST00000329630.5	37	c.344G>A	CCDS43678.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.067475	0.76301	.	.	ENSG00000196456	ENST00000478789;ENST00000329630;ENST00000490973	T;T;T	0.15372	2.43;3.09;3.25	4.34	4.34	0.51931	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.19005	0.0456	N	0.24115	0.695	0.23988	N	0.996256	P	0.51933	0.949	P	0.49799	0.622	T	0.08889	-1.0700	9	0.45353	T	0.12	.	14.3781	0.66892	0.0:0.0:1.0:0.0	.	115	Q96BV0	ZN775_HUMAN	K	115	ENSP00000419336:R115K;ENSP00000330838:R115K;ENSP00000417483:R115K	ENSP00000330838:R115K	R	+	2	0	ZNF775	149724846	0.887000	0.30362	1.000000	0.80357	0.993000	0.82548	3.237000	0.51344	2.250000	0.74265	0.555000	0.69702	AGG		0.682	ZNF775-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350679.1	NM_173680		8	4	0	0	0	1	0	8	4					A	150093913	G	A	150093913	3	1	435	1	0	0	0	0	1	0	0	0	18145	1000	35	3	350	3	ZNF775	7	150093913	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	24018	150093913	9044750	3883	24808											
ZNF775	285971	broad.mit.edu	37	chr7	150094021	150094021	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagccagaagccgaacctggCgcgccaccagcggcaccaca	11	1	11	18	4	0	1	0	0	0	1	0	2	0	1	6	2	4	1	6	2	2	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:150094021C>T	ENST00000329630.5	+	3	559	c.452C>T	c.(451-453)gCg>gTg	p.A151V		NM_173680.3	NP_775951.2	Q96BV0	ZN775_HUMAN	zinc finger protein 775	151					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(7)|skin(1)	11	Ovarian(565;0.183)|Melanoma(164;0.226)		OV - Ovarian serous cystadenocarcinoma(82;0.0173)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CCGAACCTGGCGCGCCACCAG	0.672																																						ENST00000329630.5																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(7)|skin(1)	11						c.(451-453)gCg>gTg		zinc finger protein 775							15	20	18					7																	150094021		2186	4292	6478	SO:0001583	missense	285971				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:150094021C>T	BC038111	CCDS43678.1	7q36.1	2013-01-08			ENSG00000196456	ENSG00000196456		"Zinc fingers, C2H2-type"	28501	protein-coding gene	gene with protein product						12477932	Standard	NM_173680		Approved	MGC33584	uc003whf.1	Q96BV0	OTTHUMG00000158324	ENST00000329630.5:c.452C>T	7.37:g.150094021C>T	ENSP00000330838:p.Ala151Val						p.A151V	NM_173680.3	NP_775951.2	Q96BV0	ZN775_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0173)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	3	559	+	Ovarian(565;0.183)|Melanoma(164;0.226)		151					Q8IY24	Missense_Mutation	SNP	ENST00000329630.5	37	c.452C>T	CCDS43678.1	.	.	.	.	.	.	.	.	.	.	C	4.792	0.147197	0.09134	.	.	ENSG00000196456	ENST00000329630;ENST00000490973	T;T	0.16897	2.31;2.31	4.73	0.54	0.17163	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.07773	0.0195	N	0.11131	0.1	0.20196	N	0.999926	B	0.11235	0.004	B	0.15870	0.014	T	0.41770	-0.9490	8	.	.	.	.	6.5248	0.22295	0.0:0.4209:0.0:0.5791	.	151	Q96BV0	ZN775_HUMAN	V	151	ENSP00000330838:A151V;ENSP00000417483:A151V	.	A	+	2	0	ZNF775	149724954	0.000000	0.05858	0.995000	0.50966	0.991000	0.79684	-0.322000	0.08007	0.221000	0.20879	0.555000	0.69702	GCG		0.672	ZNF775-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350679.1	NM_173680		7	10	0	0	0	1	0	7	10					T	150094021	C	T	150094021	3	4	435	1	0	0	0	0	1	0	0	0	18145	768	27	1	458	1	ZNF775	7	150094021	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	108	150094021	9044642	3884	24809											
ZNF775	285971	broad.mit.edu	37	chr7	150095097	150095097	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgtgtcccgcctgcggccgcGgcttcagccagaagcagcac	6	6	13	16	4	1	1	1	0	0	1	2	1	2	1	4	2	4	3	4	2	1	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:150095097G>A	ENST00000329630.5	+	3	1635	c.1528G>A	c.(1528-1530)Ggc>Agc	p.G510S		NM_173680.3	NP_775951.2	Q96BV0	ZN775_HUMAN	zinc finger protein 775	510					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(7)|skin(1)	11	Ovarian(565;0.183)|Melanoma(164;0.226)		OV - Ovarian serous cystadenocarcinoma(82;0.0173)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CTGCGGCCGCGGCTTCAGCCA	0.721																																						ENST00000329630.5																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(7)|skin(1)	11						c.(1528-1530)Ggc>Agc		zinc finger protein 775							6	8	7					7																	150095097		2099	4156	6255	SO:0001583	missense	285971				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:150095097G>A	BC038111	CCDS43678.1	7q36.1	2013-01-08			ENSG00000196456	ENSG00000196456		"Zinc fingers, C2H2-type"	28501	protein-coding gene	gene with protein product						12477932	Standard	NM_173680		Approved	MGC33584	uc003whf.1	Q96BV0	OTTHUMG00000158324	ENST00000329630.5:c.1528G>A	7.37:g.150095097G>A	ENSP00000330838:p.Gly510Ser						p.G510S	NM_173680.3	NP_775951.2	Q96BV0	ZN775_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0173)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	3	1635	+	Ovarian(565;0.183)|Melanoma(164;0.226)		510					Q8IY24	Missense_Mutation	SNP	ENST00000329630.5	37	c.1528G>A	CCDS43678.1	.	.	.	.	.	.	.	.	.	.	G	15.32	2.798217	0.50208	.	.	ENSG00000196456	ENST00000329630	T	0.16324	2.35	4.22	4.22	0.49857	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.06142	0.0159	N	0.02247	-0.625	0.27085	N	0.962995	P	0.48834	0.916	B	0.39379	0.298	T	0.06409	-1.0828	8	.	.	.	.	7.8567	0.29487	0.1104:0.0:0.8896:0.0	.	510	Q96BV0	ZN775_HUMAN	S	510	ENSP00000330838:G510S	.	G	+	1	0	ZNF775	149726030	0.000000	0.05858	1.000000	0.80357	0.943000	0.58893	-0.293000	0.08320	2.190000	0.69967	0.563000	0.77884	GGC		0.721	ZNF775-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350679.1	NM_173680		4	5	0	0	0	1	0	4	5					A	150095097	G	A	150095097	3	1	435	1	0	0	0	0	1	0	0	0	18145	1116	39	2	1534	2	ZNF775	7	150095097	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	1076	150095097	9043566	3885	24810											
GIMAP6	474344	broad.mit.edu	37	chr7	150324914	150324914	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	accaggcacgtcctcagagcCttggccctggcttacttgcc	6	9	10	16	1	1	1	1	0	0	1	2	1	2	1	5	3	3	2	5	3	1	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:150324914C>A	ENST00000328902.5	-	3	988	c.772G>T	c.(772-774)Ggc>Tgc	p.G258C	GIMAP6_ENST00000493969.1_3'UTR	NM_001244072.1|NM_024711.5	NP_001231001.1|NP_078987.3	Q6P9H5	GIMA6_HUMAN	GTPase, IMAP family member 6	258						cytosol (GO:0005829)	GTP binding (GO:0005525)			endometrium(4)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	29			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TCCTCAGAGCCTTGGCCCTGG	0.517																																						ENST00000328902.5																			0				endometrium(4)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	29						c.(772-774)Ggc>Tgc		GTPase, IMAP family member 6							138	113	121					7																	150324914		2203	4300	6503	SO:0001583	missense	474344						GTP binding	g.chr7:150324914C>A	AK026343	CCDS34778.1, CCDS59087.1, CCDS75676.1	7q36.1	2014-04-04			ENSG00000133561	ENSG00000133561		"GTPases, IMAP"	21918	protein-coding gene	gene with protein product	"immune-associated nucleotide-binding protein 6"					15474311	Standard	NM_001244072		Approved	FLJ22690, IAN6	uc022apv.1	Q6P9H5	OTTHUMG00000159137	ENST00000328902.5:c.772G>T	7.37:g.150324914C>A	ENSP00000330374:p.Gly258Cys					GIMAP6_ENST00000493969.1_3'UTR	p.G258C	NM_001244072.1|NM_024711.5	NP_001231001.1|NP_078987.3	Q6P9H5	GIMA6_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	3	988	-			258					C9J7B6|D3DWZ4|Q5ZPR6|Q9H612	Missense_Mutation	SNP	ENST00000328902.5	37	c.772G>T	CCDS34778.1	.	.	.	.	.	.	.	.	.	.	C	14.87	2.665683	0.47677	.	.	ENSG00000133561	ENST00000328902;ENST00000392862	T	0.06294	3.32	4.17	2.33	0.28932	.	0.590909	0.15353	N	0.266862	T	0.10637	0.0260	L	0.27053	0.805	0.09310	N	1	D;D	0.89917	0.995;1.0	P;D	0.67382	0.662;0.951	T	0.17018	-1.0383	10	0.54805	T	0.06	.	5.5203	0.16929	0.0:0.685:0.2031:0.1119	.	258;178	Q6P9H5;Q6P9H5-2	GIMA6_HUMAN;.	C	258;319	ENSP00000330374:G258C	ENSP00000330374:G258C	G	-	1	0	GIMAP6	149955847	0.000000	0.05858	0.001000	0.08648	0.007000	0.05969	0.271000	0.18626	0.400000	0.25396	0.655000	0.94253	GGC		0.517	GIMAP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353457.1	NM_024711		30	51	1	0	9.78306e-22	1	1.08721e-21	30	51					A	150324914	C	A	150324914	3	1	435	1	0	0	0	0	1	0	0	0	6383	681	24	5	110	5	GIMAP6	7	150324914	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	229817	150324914	8813749	3886	24811											
KCNH2	3757	broad.mit.edu	37	chr7	150643989	150643989	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gaaagcgagtccaaggtgagGgtggggagggggctgacggg	9	4	23	5	2	0	2	0	2	0	0	1	5	1	3	1	7	1	1	1	7	2	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:150643989G>A	ENST00000262186.5	-	14	3707	c.3306C>T	c.(3304-3306)acC>acT	p.T1102T	KCNH2_ENST00000330883.4_Silent_p.T762T|KCNH2_ENST00000392968.2_Silent_p.T1006T	NM_000238.3	NP_000229.1	Q12809	KCNH2_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 2	1102					cardiac muscle contraction (GO:0060048)|cellular response to drug (GO:0035690)|membrane depolarization during action potential (GO:0086010)|membrane repolarization during action potential (GO:0086011)|membrane repolarization during cardiac muscle cell action potential (GO:0086013)|negative regulation of potassium ion export (GO:1902303)|negative regulation of potassium ion transmembrane transport (GO:1901380)|positive regulation of potassium ion transmembrane transport (GO:1901381)|potassium ion export (GO:0071435)|potassium ion homeostasis (GO:0055075)|potassium ion transmembrane transport (GO:0071805)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of heart rate by hormone (GO:0003064)|regulation of membrane potential (GO:0042391)|regulation of membrane repolarization (GO:0060306)|regulation of potassium ion transmembrane transport (GO:1901379)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|synaptic transmission (GO:0007268)|ventricular cardiac muscle cell action potential (GO:0086005)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|identical protein binding (GO:0042802)|inward rectifier potassium channel activity (GO:0005242)|phosphorelay sensor kinase activity (GO:0000155)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization (GO:1902282)			NS(1)|cervix(1)|endometrium(10)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	42	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Alfuzosin(DB00346)|Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Cisapride(DB00604)|Dofetilide(DB00204)|Doxazosin(DB00590)|Doxepin(DB01142)|Dronedarone(DB04855)|Halofantrine(DB01218)|Ibutilide(DB00308)|Imipramine(DB00458)|Miconazole(DB01110)|Pimozide(DB01100)|Prazosin(DB00457)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terazosin(DB01162)|Thioridazine(DB00679)|Verapamil(DB00661)	CCAAGGTGAGGGTGGGGAGGG	0.652																																					GBM(137;110 1844 13671 20123 45161)	ENST00000392968.2																			0				NS(1)|cervix(1)|endometrium(10)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	42						c.(3016-3018)acC>acT		potassium voltage-gated channel, subfamily H (eag-related), member 2	Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Cisapride(DB00604)|Dofetilide(DB00204)|Halofantrine(DB01218)|Ibutilide(DB00308)|Pimozide(DB01100)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terfenadine(DB00342)|Verapamil(DB00661)						59	54	56					7																	150643989		2203	4300	6503	SO:0001819	synonymous_variant	3757				blood circulation|muscle contraction|regulation of heart contraction|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|two-component sensor activity	g.chr7:150643989G>A	U04270	CCDS5910.1, CCDS5911.1	7q36.1	2014-09-17			ENSG00000055118	ENSG00000055118		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6251	protein-coding gene	gene with protein product		152427		LQT2		18616963, 7842012, 8159766, 16382104	Standard	NM_000238		Approved	Kv11.1, HERG, erg1	uc003wic.3	Q12809	OTTHUMG00000158341	ENST00000262186.5:c.3306C>T	7.37:g.150643989G>A						KCNH2_ENST00000330883.4_Silent_p.T762T|KCNH2_ENST00000262186.5_Silent_p.T1102T	p.T1006T			Q12809	KCNH2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	12	4138	-	all_neural(206;0.219)		1102					A5H1P7|C4PFH9|D3DX04|O75418|O75680|Q708S9|Q9BT72|Q9BUT7|Q9H3P0	Silent	SNP	ENST00000262186.5	37	c.3018C>T	CCDS5910.1	.	.	.	.	.	.	.	.	.	.	G	8.518	0.868032	0.17250	.	.	ENSG00000055118	ENST00000350328	.	.	.	4.89	-2.62	0.06152	.	.	.	.	.	T	0.36853	0.0982	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.17410	-1.0370	5	0.16420	T	0.52	.	5.6583	0.17654	0.5257:0.0:0.3394:0.1349	.	.	.	.	S	379	.	ENSP00000309393:P379S	P	-	1	0	KCNH2	150274922	0.015000	0.18098	0.990000	0.47175	0.698000	0.40448	-1.008000	0.03663	-0.338000	0.08413	-0.439000	0.05793	CCT		0.652	KCNH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350741.2	NM_000238		27	36	0	0	0	1	0	27	36					A	150643989	G	A	150643989	2	1	435	1	0	0	0	0	0	0	0	1	8032	1219	43	3		3	KCNH2	7	150643989	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	319075	150643989	8494674	3887	24812											
KCNH2	3757	broad.mit.edu	37	chr7	150654454	150654454	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atctcacggtcactggtgggCgaagccaagaaggggtcgcc	9	6	15	11	3	2	1	2	0	1	1	4	2	2	1	2	5	1	0	2	5	3	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:150654454C>T	ENST00000262186.5	-	5	1454	c.1053G>A	c.(1051-1053)tcG>tcA	p.S351S	KCNH2_ENST00000330883.4_5'Flank|KCNH2_ENST00000430723.3_Silent_p.S351S|KCNH2_ENST00000392968.2_Silent_p.S255S	NM_000238.3	NP_000229.1	Q12809	KCNH2_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 2	351					cardiac muscle contraction (GO:0060048)|cellular response to drug (GO:0035690)|membrane depolarization during action potential (GO:0086010)|membrane repolarization during action potential (GO:0086011)|membrane repolarization during cardiac muscle cell action potential (GO:0086013)|negative regulation of potassium ion export (GO:1902303)|negative regulation of potassium ion transmembrane transport (GO:1901380)|positive regulation of potassium ion transmembrane transport (GO:1901381)|potassium ion export (GO:0071435)|potassium ion homeostasis (GO:0055075)|potassium ion transmembrane transport (GO:0071805)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of heart rate by hormone (GO:0003064)|regulation of membrane potential (GO:0042391)|regulation of membrane repolarization (GO:0060306)|regulation of potassium ion transmembrane transport (GO:1901379)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|synaptic transmission (GO:0007268)|ventricular cardiac muscle cell action potential (GO:0086005)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|identical protein binding (GO:0042802)|inward rectifier potassium channel activity (GO:0005242)|phosphorelay sensor kinase activity (GO:0000155)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization (GO:1902282)			NS(1)|cervix(1)|endometrium(10)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	42	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Alfuzosin(DB00346)|Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Cisapride(DB00604)|Dofetilide(DB00204)|Doxazosin(DB00590)|Doxepin(DB01142)|Dronedarone(DB04855)|Halofantrine(DB01218)|Ibutilide(DB00308)|Imipramine(DB00458)|Miconazole(DB01110)|Pimozide(DB01100)|Prazosin(DB00457)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terazosin(DB01162)|Thioridazine(DB00679)|Verapamil(DB00661)	CACTGGTGGGCGAAGCCAAGA	0.587																																					GBM(137;110 1844 13671 20123 45161)	ENST00000392968.2																			0				NS(1)|cervix(1)|endometrium(10)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	42						c.(763-765)tcG>tcA		potassium voltage-gated channel, subfamily H (eag-related), member 2	Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Cisapride(DB00604)|Dofetilide(DB00204)|Halofantrine(DB01218)|Ibutilide(DB00308)|Pimozide(DB01100)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terfenadine(DB00342)|Verapamil(DB00661)						114	88	97					7																	150654454		2203	4300	6503	SO:0001819	synonymous_variant	3757				blood circulation|muscle contraction|regulation of heart contraction|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|two-component sensor activity	g.chr7:150654454C>T	U04270	CCDS5910.1, CCDS5911.1	7q36.1	2014-09-17			ENSG00000055118	ENSG00000055118		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6251	protein-coding gene	gene with protein product		152427		LQT2		18616963, 7842012, 8159766, 16382104	Standard	NM_000238		Approved	Kv11.1, HERG, erg1	uc003wic.3	Q12809	OTTHUMG00000158341	ENST00000262186.5:c.1053G>A	7.37:g.150654454C>T						KCNH2_ENST00000262186.5_Silent_p.S351S|KCNH2_ENST00000430723.3_Silent_p.S351S	p.S255S			Q12809	KCNH2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	3	1885	-	all_neural(206;0.219)		351					A5H1P7|C4PFH9|D3DX04|O75418|O75680|Q708S9|Q9BT72|Q9BUT7|Q9H3P0	Silent	SNP	ENST00000262186.5	37	c.765G>A	CCDS5910.1																																																																																				0.587	KCNH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350741.2	NM_000238		5	8	0	0	0	1	0	5	8					T	150654454	C	T	150654454	2	4	435	1	0	0	0	0	0	0	0	1	8032	755	27	1		1	KCNH2	7	150654454	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	10465	150654454	8484209	3888	24813											
NOS3	4846	broad.mit.edu	37	chr7	150704235	150704235	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cgggcatacccccacttctgCgcctttgctcgtgccgtgga	4	10	11	16	4	1	0	0	0	1	0	2	1	1	1	4	2	4	2	4	2	1	3	rs370017827		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:150704235C>T	ENST00000297494.3	+	17	2340	c.1983C>T	c.(1981-1983)tgC>tgT	p.C661C	NOS3_ENST00000461406.1_Silent_p.C455C	NM_000603.4	NP_000594.2	P60323	NANO3_HUMAN	nitric oxide synthase 3 (endothelial cell)	0					germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic signaling pathway (GO:2001234)|oogenesis (GO:0048477)|regulation of cell cycle (GO:0051726)|regulation of translation (GO:0006417)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytoplasmic stress granule (GO:0010494)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			NS(3)|breast(3)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(11)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	50	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CCCACTTCTGCGCCTTTGCTC	0.692																																						ENST00000297494.3																			0				NS(3)|breast(3)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(11)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						c.(1981-1983)tgC>tgT		nitric oxide synthase 3 (endothelial cell)	L-Arginine(DB00125)|L-Citrulline(DB00155)|Rosuvastatin(DB01098)|Tetrahydrobiopterin(DB00360)	C		1,4405	2.1+/-5.4	0,1,2202	94	97	96		1983	-4.5	1	7		96	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	NOS3	NM_000603.4		0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154		661/1204	150704235	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	4846				anti-apoptosis|arginine catabolic process|blood vessel remodeling|endothelial cell migration|mitochondrion organization|negative regulation of muscle hyperplasia|negative regulation of platelet activation|nitric oxide biosynthetic process|platelet activation|positive regulation of angiogenesis|positive regulation of guanylate cyclase activity|positive regulation of vasodilation|regulation of blood vessel size|regulation of nitric-oxide synthase activity|regulation of systemic arterial blood pressure by endothelin|response to fluid shear stress|response to heat|smooth muscle hyperplasia	caveola|cytoskeleton|cytosol|Golgi membrane	actin monomer binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding	g.chr7:150704235C>T		CCDS5912.1, CCDS55182.1, CCDS55183.1	7q36	2007-02-15			ENSG00000164867	ENSG00000164867	1.14.13.39		7876	protein-coding gene	gene with protein product	"endothelial nitric oxide synthase"	163729				1379542	Standard	NM_000603		Approved	ECNOS, eNOS	uc003wif.3	P29474	OTTHUMG00000158343	ENST00000297494.3:c.1983C>T	7.37:g.150704235C>T						NOS3_ENST00000461406.1_Silent_p.C455C	p.C661C	NM_000603.4	NP_000594.2	P29474	NOS3_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	17	2340	+	all_neural(206;0.219)		661			Flavodoxin-like.		Q495E5	Silent	SNP	ENST00000297494.3	37	c.1983C>T	CCDS5912.1																																																																																				0.692	NOS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350750.2	NM_000603		45	76	0	0	0	1	0	45	76					T	150704235	C	T	150704235	2	4	435	1	0	0	0	0	0	0	0	1	10544	776	27	1		1	NOS3	7	150704235	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	49781	150704235	8434428	3889	24814											
ABCB8	11194	broad.mit.edu	37	chr7	150742338	150742338	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaagaaaggcgggctatacGccgagctcatccggaggcag	11	5	15	10	4	1	2	1	1	0	1	2	4	2	3	2	4	2	3	2	4	4	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:150742338G>A	ENST00000297504.6	+	17	2176	c.2110G>A	c.(2110-2112)Gcc>Acc	p.A704T	ABCB8_ENST00000358849.4_Missense_Mutation_p.A687T|ABCB8_ENST00000356058.4_3'UTR|ABCB8_ENST00000542328.1_Missense_Mutation_p.A599T|ABCB8_ENST00000498578.1_Missense_Mutation_p.A662T			Q9NUT2	ABCB8_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 8	704	ABC transporter. {ECO:0000255|PROSITE- ProRule:PRU00434}.				transmembrane transport (GO:0055085)|transport (GO:0006810)	ATP-binding cassette (ABC) transporter complex (GO:0043190)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial envelope (GO:0005740)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	26			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Doxorubicin(DB00997)	CGGGCTATACGCCGAGCTCAT	0.632																																						ENST00000358849.4																			0				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	26						c.(2059-2061)Gcc>Acc		ATP-binding cassette, sub-family B (MDR/TAP), member 8							64	60	61					7																	150742338		2203	4300	6503	SO:0001583	missense	11194					ATP-binding cassette (ABC) transporter complex|integral to membrane|membrane fraction|mitochondrial inner membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr7:150742338G>A	AF047690	CCDS5913.1, CCDS64798.1, CCDS64799.1, CCDS64800.1	7q36.1	2012-05-16			ENSG00000197150	ENSG00000197150		"ATP binding cassette transporters / subfamily B"	49	protein-coding gene	gene with protein product	"mitochondrial ABC protein"	605464				8894702	Standard	NM_001282291		Approved	EST328128, M-ABC1, MABC1	uc003wik.4	Q9NUT2	OTTHUMG00000158686	ENST00000297504.6:c.2110G>A	7.37:g.150742338G>A	ENSP00000297504:p.Ala704Thr					ABCB8_ENST00000297504.6_Missense_Mutation_p.A704T|ABCB8_ENST00000356058.4_3'UTR|ABCB8_ENST00000498578.1_Missense_Mutation_p.A662T|ABCB8_ENST00000542328.1_Missense_Mutation_p.A599T	p.A687T	NM_007188.3	NP_009119.2	Q9NUT2	ABCB8_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	16	2152	+			704			ABC transporter.		A5D8W3|B2RBL8|B3KND2|B4DG02|G3XAP3|O95787|Q53GM0	Missense_Mutation	SNP	ENST00000297504.6	37	c.2059G>A		.	.	.	.	.	.	.	.	.	.	g	5.612	0.297633	0.10622	.	.	ENSG00000197150	ENST00000358849;ENST00000360651;ENST00000297504;ENST00000542328;ENST00000498578	T;T;T;T	0.75589	-0.95;-0.95;-0.95;-0.95	4.4	1.48	0.22813	ABC transporter-like (1);	0.279485	0.33477	N	0.004865	T	0.54806	0.1881	L	0.31294	0.92	0.22389	N	0.999141	B;B;B;B	0.24426	0.103;0.036;0.036;0.061	B;B;B;B	0.24269	0.024;0.016;0.016;0.052	T	0.30621	-0.9972	10	0.21540	T	0.41	-1.7296	4.846	0.13514	0.1041:0.0:0.4937:0.4022	.	599;662;704;687	G3XAP3;A5D8W3;Q9NUT2;Q9NUT2-2	.;.;ABCB8_HUMAN;.	T	687;670;704;599;662	ENSP00000351717:A687T;ENSP00000297504:A704T;ENSP00000438776:A599T;ENSP00000418271:A662T	ENSP00000297504:A704T	A	+	1	0	ABCB8	150373271	0.822000	0.29219	0.191000	0.23289	0.278000	0.26855	1.789000	0.38724	0.538000	0.28769	0.457000	0.33378	GCC		0.632	ABCB8-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000351733.2	NM_007188		18	30	0	0	0	1	0	18	30					A	150742338	G	A	150742338	3	1	435	1	0	0	0	0	1	0	0	0	47	1087	38	1	2121	1	ABCB8	7	150742338	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	38103	150742338	8396325	3890	24815											
SLC4A2	6522	broad.mit.edu	37	chr7	150767909	150767909	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tggaggtgccggtgcctgtgCgtttcctcttcctgctgctg	1	14	14	12	2	1	0	0	0	1	0	3	1	3	1	4	3	5	3	4	3	0	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:150767909C>T	ENST00000485713.1	+	12	2700	c.1660C>T	c.(1660-1662)Cgt>Tgt	p.R554C	SLC4A2_ENST00000413384.2_Missense_Mutation_p.R554C|SLC4A2_ENST00000392826.2_Missense_Mutation_p.R545C|SLC4A2_ENST00000310317.5_Missense_Mutation_p.R472C|SLC4A2_ENST00000461735.1_Missense_Mutation_p.R540C	NM_001199692.1	NP_001186621.1	P04920	B3A2_HUMAN	solute carrier family 4 (anion exchanger), member 2	554					anion transport (GO:0006820)|bicarbonate transport (GO:0015701)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	anion transmembrane transporter activity (GO:0008509)|chloride transmembrane transporter activity (GO:0015108)|inorganic anion exchanger activity (GO:0005452)			NS(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(14)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	33			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GGTGCCTGTGCGTTTCCTCTT	0.632																																						ENST00000485713.1																			0				NS(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(14)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	33						c.(1660-1662)Cgt>Tgt		solute carrier family 4 (anion exchanger), member 2							158	137	144					7																	150767909		2203	4300	6503	SO:0001583	missense	6522				bicarbonate transport	integral to membrane|membrane fraction	inorganic anion exchanger activity	g.chr7:150767909C>T		CCDS5917.1, CCDS56520.1, CCDS56521.1	7q36.1	2013-07-19	2013-07-19		ENSG00000164889	ENSG00000164889		"Solute carriers"	11028	protein-coding gene	gene with protein product	"anion exchanger 2 type a", "anion exchanger 2 type b1", "anion exchanger 2 type b2"	109280	"erythrocyte membrane protein band 3-like 1", "solute carrier family 4, anion exchanger, member 2 (erythrocyte membrane protein band 3-like 1)"	EPB3L1, AE2		8434259	Standard	NM_003040		Approved	HKB3, BND3L, NBND3	uc003wit.4	P04920	OTTHUMG00000158443	ENST00000485713.1:c.1660C>T	7.37:g.150767909C>T	ENSP00000419412:p.Arg554Cys					SLC4A2_ENST00000461735.1_Missense_Mutation_p.R540C|SLC4A2_ENST00000310317.5_Missense_Mutation_p.R472C|SLC4A2_ENST00000413384.2_Missense_Mutation_p.R554C|SLC4A2_ENST00000392826.2_Missense_Mutation_p.R545C	p.R554C	NM_001199692.1	NP_001186621.1	P04920	B3A2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	12	2700	+			554					B2R6T0|B4DIT0|D3DX05|F8W682|Q45EY5|Q969L3	Missense_Mutation	SNP	ENST00000485713.1	37	c.1660C>T	CCDS5917.1	.	.	.	.	.	.	.	.	.	.	C	16.30	3.084031	0.55861	.	.	ENSG00000164889	ENST00000485713;ENST00000413384;ENST00000310317;ENST00000392826;ENST00000461735	T;T;T;T;T	0.78246	-1.16;-1.16;-1.16;-1.16;-1.16	4.75	4.75	0.60458	Bicarbonate transporter, cytoplasmic (2);Phosphotransferase/anion transporter (1);	0.000000	0.85682	D	0.000000	D	0.90714	0.7086	H	0.96142	3.775	0.80722	D	1	D;P;P	0.55385	0.971;0.925;0.939	P;P;P	0.61533	0.89;0.633;0.749	D	0.93494	0.6838	10	0.87932	D	0	.	15.3122	0.74042	0.0:1.0:0.0:0.0	.	545;540;554	F8W682;P04920-2;P04920	.;.;B3A2_HUMAN	C	554;554;472;545;540	ENSP00000419412:R554C;ENSP00000405600:R554C;ENSP00000311402:R472C;ENSP00000376571:R545C;ENSP00000419164:R540C	ENSP00000311402:R472C	R	+	1	0	SLC4A2	150398842	0.985000	0.35326	1.000000	0.80357	0.394000	0.30568	1.163000	0.31798	2.474000	0.83562	0.650000	0.86243	CGT		0.632	SLC4A2-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000351039.1	NM_003040		18	21	0	0	0	1	0	18	21					T	150767909	C	T	150767909	3	4	435	1	0	0	0	0	1	0	0	0	14654	768	27	1	1702	1	SLC4A2	7	150767909	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	25571	150767909	8370754	3891	24816											
GBX1	2636	broad.mit.edu	37	chr7	150845879	150845879	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacctcactgagcttgagggCgtgggcgatctgagagcgct	7	8	15	11	3	2	3	1	3	1	1	2	5	2	3	1	2	2	2	1	2	0	1	rs200609477		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:150845879C>T	ENST00000297537.4	-	2	888	c.889G>A	c.(889-891)Gcc>Acc	p.A297T	GBX1_ENST00000475831.1_5'Flank	NM_001098834.1	NP_001092304.1	Q14549	GBX1_HUMAN	gastrulation brain homeobox 1	297					adult walking behavior (GO:0007628)|neuron fate commitment (GO:0048663)|proprioception (GO:0019230)|regulation of transcription, DNA-templated (GO:0006355)|sensory neuron axon guidance (GO:0097374)|spinal cord motor neuron differentiation (GO:0021522)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			large_intestine(1)|lung(5)|skin(1)	7			OV - Ovarian serous cystadenocarcinoma(82;0.00989)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		AGCTTGAGGGCGTGGGCGATC	0.537																																						ENST00000297537.4																			0				large_intestine(1)|lung(5)|skin(1)	7						c.(889-891)Gcc>Acc		gastrulation brain homeobox 1							72	77	75					7																	150845879		2178	4286	6464	SO:0001583	missense	2636					nuclear chromosome	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:150845879C>T	L11239	CCDS43682.1	7q36.1	2012-03-09	2005-12-22		ENSG00000164900	ENSG00000164900		"Homeoboxes / ANTP class : HOXL subclass"	4185	protein-coding gene	gene with protein product		603354	"gastrulation brain homeo box 1"			7903253	Standard	NM_001098834		Approved		uc011kvg.2	Q14549	OTTHUMG00000158751	ENST00000297537.4:c.889G>A	7.37:g.150845879C>T	ENSP00000297537:p.Ala297Thr						p.A297T	NM_001098834.1	NP_001092304.1	Q14549	GBX1_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00989)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	2	888	-			297						Missense_Mutation	SNP	ENST00000297537.4	37	c.889G>A	CCDS43682.1	.	.	.	.	.	.	.	.	.	.	C	25.4	4.634851	0.87760	.	.	ENSG00000164900	ENST00000297537	D	0.96168	-3.93	4.92	4.92	0.64577	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);Homeobox, conserved site (1);	0.059022	0.64402	D	0.000002	D	0.93291	0.7862	L	0.28776	0.89	0.80722	D	1	P	0.47191	0.891	P	0.48030	0.564	D	0.92155	0.5731	10	0.28530	T	0.3	-22.6198	16.8607	0.86017	0.0:1.0:0.0:0.0	.	297	Q14549	GBX1_HUMAN	T	297	ENSP00000297537:A297T	ENSP00000297537:A297T	A	-	1	0	GBX1	150476812	1.000000	0.71417	0.994000	0.49952	0.988000	0.76386	4.817000	0.62650	2.580000	0.87095	0.655000	0.94253	GCC		0.537	GBX1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352029.1			16	43	0	0	0	1	0	16	43					T	150845879	C	T	150845879	3	4	435	1	0	0	0	0	1	0	0	0	6280	768	27	1	205	1	GBX1	7	150845879	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	77970	150845879	8292784	3892	24817											
CHPF2	54480	broad.mit.edu	37	chr7	150935155	150935155	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tggctcgctgtgcgagcagaGgccccttcccaggtgcgact	5	8	14	14	3	0	1	0	0	0	1	2	3	1	1	3	3	3	3	3	3	0	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:150935155G>T	ENST00000035307.2	+	4	3220	c.1707G>T	c.(1705-1707)gaG>gaT	p.E569D	RP4-548D19.3_ENST00000607902.1_RNA|MIR671_ENST00000390183.1_RNA|CHPF2_ENST00000495645.1_Missense_Mutation_p.E561D	NM_019015.1	NP_061888.1	Q9P2E5	CHPF2_HUMAN	chondroitin polymerizing factor 2	569					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi cisterna membrane (GO:0032580)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	acetylgalactosaminyltransferase activity (GO:0008376)|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity (GO:0050510)			breast(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(4)|prostate(1)|skin(3)	17						TGCGAGCAGAGGCCCCTTCCC	0.627																																						ENST00000035307.2																			0				breast(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(4)|prostate(1)|skin(3)	17						c.(1705-1707)gaG>gaT		chondroitin polymerizing factor 2							35	38	37					7																	150935155		2203	4300	6503	SO:0001583	missense	54480					Golgi cisterna membrane|integral to membrane	N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity	g.chr7:150935155G>T	AB037823	CCDS34779.1, CCDS64803.1	7q36.1	2013-02-19			ENSG00000033100	ENSG00000033100	2.4.1.226	"Beta 3-glycosyltransferases", "Beta 4-glycosyltransferases"	29270	protein-coding gene	gene with protein product		608037				10718198, 12145278, 18316376	Standard	NM_019015		Approved	KIAA1402, ChSy-3, CSGlcA-T	uc003wjr.1	Q9P2E5	OTTHUMG00000157380	ENST00000035307.2:c.1707G>T	7.37:g.150935155G>T	ENSP00000035307:p.Glu569Asp					CHPF2_ENST00000495645.1_Missense_Mutation_p.E561D	p.E569D	NM_019015.1	NP_061888.1	Q9P2E5	CHPF2_HUMAN			4	3220	+			569					B2DBD8|Q6P2I4|Q6UXD2	Missense_Mutation	SNP	ENST00000035307.2	37	c.1707G>T	CCDS34779.1	.	.	.	.	.	.	.	.	.	.	G	10.03	1.239838	0.22711	.	.	ENSG00000033100	ENST00000495645;ENST00000035307;ENST00000377851	T;T	0.16324	2.35;2.35	4.71	3.84	0.44239	.	0.000000	0.85682	D	0.000000	T	0.12561	0.0305	L	0.28740	0.885	0.53688	D	0.999973	B;B	0.23058	0.046;0.079	B;B	0.29524	0.103;0.035	T	0.10474	-1.0628	10	0.17369	T	0.5	-25.1034	10.28	0.43534	0.165:0.0:0.835:0.0	.	569;561	Q9P2E5;G5E9W2	CHPF2_HUMAN;.	D	561;569;569	ENSP00000418914:E561D;ENSP00000035307:E569D	ENSP00000035307:E569D	E	+	3	2	CHPF2	150566088	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	2.164000	0.42387	1.210000	0.43336	-0.225000	0.12378	GAG		0.627	CHPF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348648.2	NM_019015		7	43	1	0	0.00307968	1	0.00311927	7	43					T	150935155	G	T	150935155	3	4	435	1	0	0	0	0	1	0	0	0	3369	991	35	5	1721	5	CHPF2	7	150935155	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	89276	150935155	8203508	3893	24818											
CRYGN	155051	broad.mit.edu	37	chr7	151135186	151135186	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gaactgctggccccggaagtCggggtgattgaagcagaccc	9	6	15	11	2	0	3	0	2	0	1	1	5	0	4	3	4	3	2	3	4	3	1	rs147779621	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:151135186C>T	ENST00000337323.2	-	2	292	c.166G>A	c.(166-168)Gac>Aac	p.D56N	RP4-555L14.4_ENST00000465549.1_RNA|CRYGN_ENST00000476631.1_5'UTR|CRYGN_ENST00000491928.1_Missense_Mutation_p.D56N	NM_144727.1	NP_653328.1	Q8WXF5	CRGN_HUMAN	crystallin, gamma N	56	Beta/gamma crystallin 'Greek key' 2. {ECO:0000255|PROSITE-ProRule:PRU00028}.									central_nervous_system(1)|kidney(1)|large_intestine(1)|liver(1)|lung(4)	8			OV - Ovarian serous cystadenocarcinoma(82;0.00358)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CCCCGGAAGTCGGGGTGATTG	0.607													C|||	3	0.000599042	0.0015	0	5008	,	,		17042	0		0	False		,,,				2504	0.001					ENST00000337323.2																			0				central_nervous_system(1)|kidney(1)|large_intestine(1)|liver(1)|lung(4)	8						c.(166-168)Gac>Aac		crystallin, gamma N		C	ASN/ASP	4,4402	8.1+/-20.4	0,4,2199	67	65	66		166	2.2	0.8	7	dbSNP_134	66	0,8600		0,0,4300	no	missense	CRYGN	NM_144727.1	23	0,4,6499	TT,TC,CC		0.0,0.0908,0.0308	probably-damaging	56/183	151135186	4,13002	2203	4300	6503	SO:0001583	missense	155051							g.chr7:151135186C>T	AF445455	CCDS5926.1	7q36.1	2003-02-25			ENSG00000127377	ENSG00000127377			20458	protein-coding gene	gene with protein product		609603					Standard	NM_144727		Approved		uc003wke.3	Q8WXF5	OTTHUMG00000157353	ENST00000337323.2:c.166G>A	7.37:g.151135186C>T	ENSP00000338613:p.Asp56Asn					RP4-555L14.4_ENST00000465549.1_RNA|CRYGN_ENST00000476631.1_5'UTR	p.D56N	NM_144727.1	NP_653328.1	Q8WXF5	CRGN_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00358)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	2	292	-			56			Beta/gamma crystallin 'Greek key' 2.		Q496G6	Missense_Mutation	SNP	ENST00000337323.2	37	c.166G>A	CCDS5926.1	.	.	.	.	.	.	.	.	.	.	C	5.350	0.249911	0.10130	9.08E-4	0.0	ENSG00000127377	ENST00000337323	T	0.72725	-0.68	5.05	2.23	0.28157	Beta/gamma crystallin (5);Gamma-crystallin-related (1);	0.093973	0.64402	D	0.000001	T	0.38161	0.1030	N	0.08118	0	0.45867	D	0.99872	P;P	0.51351	0.944;0.635	B;B	0.36378	0.223;0.14	T	0.52064	-0.8625	10	0.02654	T	1	.	9.99	0.41865	0.0:0.7729:0.0:0.2271	.	56;56	Q8WXF5-2;Q8WXF5	.;CRGN_HUMAN	N	56	ENSP00000338613:D56N	ENSP00000338613:D56N	D	-	1	0	CRYGN	150766119	0.725000	0.28048	0.756000	0.31282	0.554000	0.35429	1.448000	0.35112	0.532000	0.28657	-0.448000	0.05591	GAC		0.607	CRYGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348553.1			27	18	0	0	0	1	0	27	18					T	151135186	C	T	151135186	3	4	435	1	0	0	0	0	1	0	0	0	3918	884	31	2	394	2	CRYGN	7	151135186	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	200031	151135186	8003477	3894	24819											
MLL3	58508	broad.mit.edu	37	chr7	151836804	151836804	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cctgttggctacttcgtttcGaatgatagtcccgatgtact	7	15	9	10	3	0	1	0	1	0	0	3	3	1	1	2	1	2	4	2	1	4	6			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:151836804G>A	ENST00000262189.6	-	56	14634	c.14416C>T	c.(14416-14418)Cga>Tga	p.R4806*	KMT2C_ENST00000355193.2_Nonsense_Mutation_p.R4863*|KMT2C_ENST00000485655.2_Nonsense_Mutation_p.R11*	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	4806	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										ACTTCGTTTCGAATGATAGTC	0.463																																						ENST00000355193.2																			0											c.(14587-14589)Cga>Tga		lysine (K)-specific methyltransferase 2C							282	213	236					7																	151836804		2203	4300	6503	SO:0001587	stop_gained	58508							g.chr7:151836804G>A	AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	13726	protein-coding gene	gene with protein product		606833	"myeloid/lymphoid or mixed-lineage leukemia 3"	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.14416C>T	7.37:g.151836804G>A	ENSP00000262189:p.Arg4806*					KMT2C_ENST00000262189.6_Nonsense_Mutation_p.R4806*|KMT2C_ENST00000485655.2_Nonsense_Mutation_p.R11*	p.R4863*							57	14805	-								Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Nonsense_Mutation	SNP	ENST00000262189.6	37	c.14587C>T	CCDS5931.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	55|55	24.962231|24.962231	0.99963|0.99963	.|.	.|.	ENSG00000055609|ENSG00000055609	ENST00000262189;ENST00000355193;ENST00000485655;ENST00000424877|ENST00000360104	.|.	.|.	.|.	4.68|4.68	2.88|2.88	0.33553|0.33553	.|.	0.000000|.	0.38272|.	U|.	0.001748|.	.|T	.|0.52917	.|0.1764	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.60682	.|-0.7215	.|3	0.02654|.	T|.	1|.	.|.	10.5217|10.5217	0.44922|0.44922	0.1588:0.0:0.8412:0.0|0.1588:0.0:0.8412:0.0	.|.	.|.	.|.	.|.	X|L	4806;4863;11;1419|2362	.|.	ENSP00000262189:R4806X|.	R|S	-|-	1|2	2|0	MLL3|MLL3	151467737|151467737	1.000000|1.000000	0.71417|0.71417	0.946000|0.946000	0.38457|0.38457	0.465000|0.465000	0.32709|0.32709	5.607000|5.607000	0.67648|0.67648	0.526000|0.526000	0.28541|0.28541	-0.126000|-0.126000	0.14955|0.14955	CGA|TCG		0.463	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3			26	44	0	0	0	1	0	26	44					A	151836804	G	A	151836804	4	1	435	1	0	0	0	0	0	1	0	0	9622	1066	37	2	335	2	MLL3	7	151836804	Nonsense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	701618	151836804	7301859	3895	24820											
MLL3	58508	broad.mit.edu	37	chr7	151860707	151860707	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gctagtatggccagaaataaCtgttgtgtgctgctggtgct	8	13	13	7	0	0	1	0	0	0	1	0	1	0	1	1	2	4	6	1	2	4	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:151860707C>A	ENST00000262189.6	-	43	10173	c.9955G>T	c.(9955-9957)Gtt>Ttt	p.V3319F	KMT2C_ENST00000355193.2_Missense_Mutation_p.V3319F	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	3319	Gln-rich.|Pro-rich.				histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										CCAGAAATAACTGTTGTGTGC	0.562																																						ENST00000355193.2																			0											c.(9955-9957)Gtt>Ttt		lysine (K)-specific methyltransferase 2C							130	113	119					7																	151860707		2203	4300	6503	SO:0001583	missense	58508							g.chr7:151860707C>A	AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	13726	protein-coding gene	gene with protein product		606833	"myeloid/lymphoid or mixed-lineage leukemia 3"	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.9955G>T	7.37:g.151860707C>A	ENSP00000262189:p.Val3319Phe					KMT2C_ENST00000262189.6_Missense_Mutation_p.V3319F	p.V3319F							43	10173	-								Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Missense_Mutation	SNP	ENST00000262189.6	37	c.9955G>T	CCDS5931.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	7.011|7.011	0.556703|0.556703	0.13436|0.13436	.|.	.|.	ENSG00000055609|ENSG00000055609	ENST00000360104|ENST00000262189;ENST00000355193	.|D;D	.|0.84370	.|-1.84;-1.83	5.13|5.13	1.92|1.92	0.25849|0.25849	.|.	.|0.376397	.|0.18594	.|N	.|0.136654	D|D	0.84383|0.84383	0.5460|0.5460	L|L	0.51422|0.51422	1.61|1.61	0.19945|0.19945	N|N	0.999948|0.999948	.|P;B;D	.|0.59767	.|0.468;0.247;0.986	.|B;B;P	.|0.53035	.|0.125;0.079;0.716	T|T	0.74919|0.74919	-0.3500|-0.3500	5|10	.|0.56958	.|D	.|0.05	.|.	8.6038|8.6038	0.33760|0.33760	0.0:0.7087:0.1311:0.1602|0.0:0.7087:0.1311:0.1602	.|.	.|3319;2380;3319	.|Q8NEZ4;Q8NEZ4-2;Q8NEZ4-3	.|MLL3_HUMAN;.;.	I|F	824|3319	.|ENSP00000262189:V3319F;ENSP00000347325:V3319F	.|ENSP00000262189:V3319F	S|V	-|-	2|1	0|0	MLL3|MLL3	151491640|151491640	0.115000|0.115000	0.22152|0.22152	0.098000|0.098000	0.21074|0.21074	0.191000|0.191000	0.23601|0.23601	1.005000|1.005000	0.29834|0.29834	1.161000|1.161000	0.42604|0.42604	-0.140000|-0.140000	0.14226|0.14226	AGT|GTT		0.562	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3			17	22	1	0	1.02788e-11	1	1.10723e-11	17	22					A	151860707	C	A	151860707	3	1	435	1	0	0	0	0	1	0	0	0	9622	565	20	5	4848	5	MLL3	7	151860707	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	23903	151860707	7277956	3896	24821											
MLL3	58508	broad.mit.edu	37	chr7	151874059	151874059	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caccttagaatttggagacaGtacttccgtttttacctcat	10	15	6	10	1	1	2	1	0	0	2	2	3	2	2	3	1	2	2	3	1	4	7			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:151874059G>A	ENST00000262189.6	-	38	8697	c.8479C>T	c.(8479-8481)Ctg>Ttg	p.L2827L	KMT2C_ENST00000355193.2_Silent_p.L2827L	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	2827					histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										TTTGGAGACAGTACTTCCGTT	0.363																																						ENST00000355193.2																			0											c.(8479-8481)Ctg>Ttg		lysine (K)-specific methyltransferase 2C							136	134	134					7																	151874059		2203	4300	6503	SO:0001819	synonymous_variant	58508							g.chr7:151874059G>A	AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	13726	protein-coding gene	gene with protein product		606833	"myeloid/lymphoid or mixed-lineage leukemia 3"	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.8479C>T	7.37:g.151874059G>A						KMT2C_ENST00000262189.6_Silent_p.L2827L	p.L2827L							38	8697	-								Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Silent	SNP	ENST00000262189.6	37	c.8479C>T	CCDS5931.1	.	.	.	.	.	.	.	.	.	.	G	0.005	-2.230322	0.00280	.	.	ENSG00000055609	ENST00000360104	.	.	.	5.58	0.309	0.15820	.	.	.	.	.	T	0.21267	0.0512	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	T	0.23440	-1.0188	4	.	.	.	.	2.2228	0.03977	0.2527:0.0989:0.4516:0.1968	.	.	.	.	I	332	.	.	T	-	2	0	MLL3	151504992	0.000000	0.05858	0.001000	0.08648	0.066000	0.16364	0.014000	0.13333	-0.155000	0.11098	-0.813000	0.03139	ACT		0.363	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3			32	66	0	0	0	1	0	32	66					A	151874059	G	A	151874059	2	1	435	1	0	0	0	0	0	0	0	1	9622	1020	36	3		3	MLL3	7	151874059	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	13352	151874059	7264604	3897	24822											
MLL3	58508	broad.mit.edu	37	chr7	151879308	151879308	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gacccaggtgaaaacacttgCggtgagggtggctgagaagt	11	7	16	7	1	0	3	0	3	0	1	0	5	0	3	1	4	2	1	1	4	3	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:151879308C>T	ENST00000262189.6	-	36	5855	c.5637G>A	c.(5635-5637)ccG>ccA	p.P1879P	KMT2C_ENST00000355193.2_Silent_p.P1879P	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	1879	Pro-rich.				histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										AAAACACTTGCGGTGAGGGTG	0.537																																						ENST00000355193.2																			0											c.(5635-5637)ccG>ccA		lysine (K)-specific methyltransferase 2C							83	86	85					7																	151879308		2203	4300	6503	SO:0001819	synonymous_variant	58508							g.chr7:151879308C>T	AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	13726	protein-coding gene	gene with protein product		606833	"myeloid/lymphoid or mixed-lineage leukemia 3"	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.5637G>A	7.37:g.151879308C>T						KMT2C_ENST00000262189.6_Silent_p.P1879P	p.P1879P							36	5855	-								Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Silent	SNP	ENST00000262189.6	37	c.5637G>A	CCDS5931.1																																																																																				0.537	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3			27	32	0	0	0	1	0	27	32					T	151879308	C	T	151879308	2	4	435	1	0	0	0	0	0	0	0	1	9622	755	27	1		1	MLL3	7	151879308	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	5249	151879308	7259355	3898	24823											
MLL3	58508	broad.mit.edu	37	chr7	151917819	151917819	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgggtataagtcttgggtggGtctaaaattacaaaatccca	13	12	10	6	0	2	0	0	0	2	0	3	0	3	0	1	3	1	1	1	3	7	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:151917819G>A	ENST00000262189.6	-	23	3719	c.3501C>T	c.(3499-3501)gaC>gaT	p.D1167D	KMT2C_ENST00000355193.2_Splice_Site_p.D1167D	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	1167					histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										TCTTGGGTGGGTCTAAAATTA	0.388																																						ENST00000355193.2																			0											c.e23-1		lysine (K)-specific methyltransferase 2C							33	32	32					7																	151917819		2202	4296	6498	SO:0001630	splice_region_variant	58508							g.chr7:151917819G>A	AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	13726	protein-coding gene	gene with protein product		606833	"myeloid/lymphoid or mixed-lineage leukemia 3"	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.3500-1C>T	7.37:g.151917819G>A						KMT2C_ENST00000262189.6_Splice_Site_p.D1167_splice	p.D1167_splice							23	3719	-								Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Splice_Site	SNP	ENST00000262189.6	37	c.3499_splice	CCDS5931.1																																																																																				0.388	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3		Silent	19	21	0	0	0	1	0	19	21					A	151917819	G	A	151917819	5	1	435	1	0	0	0	0	0	0	1	0	9622	1275	44	3	11382	3	MLL3	7	151917819	Splice_Site	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	38511	151917819	7220844	3899	24824											
MLL3	58508	broad.mit.edu	37	chr7	151921189	151921189	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gataagcttgcacaaggagcGcactgtgtgtaattgttctg	10	12	12	7	1	1	0	0	0	1	0	1	2	1	1	0	1	3	5	0	1	3	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:151921189G>A	ENST00000262189.6	-	20	3452	c.3234C>T	c.(3232-3234)tgC>tgT	p.C1078C	KMT2C_ENST00000355193.2_Silent_p.C1078C	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	1078					histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										CACAAGGAGCGCACTGTGTGT	0.438																																						ENST00000355193.2																			0											c.(3232-3234)tgC>tgT		lysine (K)-specific methyltransferase 2C							40	37	38					7																	151921189		2203	4299	6502	SO:0001819	synonymous_variant	58508							g.chr7:151921189G>A	AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	13726	protein-coding gene	gene with protein product		606833	"myeloid/lymphoid or mixed-lineage leukemia 3"	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.3234C>T	7.37:g.151921189G>A						KMT2C_ENST00000262189.6_Silent_p.C1078C	p.C1078C							20	3452	-								Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Silent	SNP	ENST00000262189.6	37	c.3234C>T	CCDS5931.1																																																																																				0.438	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3			8	28	0	0	0	1	0	8	28					A	151921189	G	A	151921189	2	1	435	1	0	0	0	0	0	0	0	1	9622	1079	38	1		1	MLL3	7	151921189	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	3370	151921189	7217474	3900	24825											
ACTR3B	57180	broad.mit.edu	37	chr7	152522194	152522194	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgccccatcgatgtgcggcGcccgctgtataaggtatgag	7	9	13	12	4	0	1	0	1	0	0	1	2	0	1	3	2	2	3	3	2	3	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:152522194G>A	ENST00000256001.8	+	9	1072	c.938G>A	c.(937-939)cGc>cAc	p.R313H	ACTR3B_ENST00000537264.1_Missense_Mutation_p.R225H|ACTR3B_ENST00000397282.2_Missense_Mutation_p.R225H|ACTR3B_ENST00000377776.3_Missense_Mutation_p.R313H	NM_020445.5	NP_065178.1	Q9P1U1	ARP3B_HUMAN	ARP3 actin-related protein 3 homolog B (yeast)	313						cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)			breast(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)	13		all_hematologic(28;0.0592)|Prostate(32;0.191)	OV - Ovarian serous cystadenocarcinoma(82;0.0287)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0434)		GATGTGCGGCGCCCGCTGTAT	0.413																																						ENST00000256001.8																			0				breast(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)	13						c.(937-939)cGc>cAc		ARP3 actin-related protein 3 homolog B (yeast)							85	79	81					7																	152522194		2203	4300	6503	SO:0001583	missense	57180				regulation of actin filament polymerization	cell projection|cytoplasm|cytoskeleton	actin binding|ATP binding	g.chr7:152522194G>A		CCDS5934.1, CCDS34782.1	7q36.1	2010-07-20			ENSG00000133627	ENSG00000133627			17256	protein-coding gene	gene with protein product						10806390	Standard	NM_001040135		Approved	ARP11, ARP3beta	uc003wle.2	Q9P1U1	OTTHUMG00000151463	ENST00000256001.8:c.938G>A	7.37:g.152522194G>A	ENSP00000256001:p.Arg313His					ACTR3B_ENST00000377776.3_Missense_Mutation_p.R313H|ACTR3B_ENST00000537264.1_Missense_Mutation_p.R225H|ACTR3B_ENST00000397282.2_Missense_Mutation_p.R225H	p.R313H	NM_020445.5	NP_065178.1	Q9P1U1	ARP3B_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0287)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0434)	9	1072	+		all_hematologic(28;0.0592)|Prostate(32;0.191)	313					A8MTG1|B4DFW4|Q7Z526|Q96BT2	Missense_Mutation	SNP	ENST00000256001.8	37	c.938G>A	CCDS5934.1	.	.	.	.	.	.	.	.	.	.	G	15.56	2.869548	0.51588	.	.	ENSG00000133627	ENST00000377776;ENST00000256001;ENST00000397282;ENST00000537264	T;T;T;T	0.09163	3.01;3.01;3.01;3.01	3.85	2.97	0.34412	.	0.000000	0.56097	U	0.000026	T	0.43590	0.1254	H	0.96720	3.87	0.42311	D	0.992215	D;D	0.89917	1.0;1.0	D;D	0.75020	0.954;0.985	T	0.57596	-0.7784	10	0.87932	D	0	.	10.7066	0.45958	0.0954:0.0:0.9045:0.0	.	313;313	Q9P1U1-3;Q9P1U1	.;ARP3B_HUMAN	H	313;313;225;225	ENSP00000367007:R313H;ENSP00000256001:R313H;ENSP00000380452:R225H;ENSP00000446157:R225H	ENSP00000256001:R313H	R	+	2	0	ACTR3B	152153127	1.000000	0.71417	0.018000	0.16275	0.674000	0.39518	9.348000	0.97062	0.757000	0.33036	0.491000	0.48974	CGC		0.413	ACTR3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322803.1	NM_020445		9	27	0	0	0	1	0	9	27					A	152522194	G	A	152522194	3	1	435	1	0	0	0	0	1	0	0	0	213	1087	38	1	972	1	ACTR3B	7	152522194	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	601005	152522194	6616469	3901	24826											
DPP6	1804	broad.mit.edu	37	chr7	154143322	154143322	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctggtggggagtaaccctccGcagaggaattggaaaggaat	12	7	15	7	1	0	1	0	0	0	1	1	5	1	5	2	6	1	2	2	6	4	2	rs538182642		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:154143322G>A	ENST00000377770.3	+	2	408	c.267G>A	c.(265-267)ccG>ccA	p.P89P	DPP6_ENST00000404039.1_Silent_p.P25P|DPP6_ENST00000427557.1_Silent_p.P27P|DPP6_ENST00000406326.1_Silent_p.P89P|DPP6_ENST00000496611.1_3'UTR|DPP6_ENST00000332007.3_Silent_p.P27P			P42658	DPP6_HUMAN	dipeptidyl-peptidase 6	89					cell death (GO:0008219)|neuronal action potential (GO:0019228)|positive regulation of potassium ion transmembrane transport (GO:1901381)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	dipeptidyl-peptidase activity (GO:0008239)|serine-type peptidase activity (GO:0008236)			NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	71	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	OV - Ovarian serous cystadenocarcinoma(82;0.0562)			GTAACCCTCCGCAGAGGAATT	0.423													G|||	1	0.000199681	8e-04	0	5008	,	,		17043	0		0	False		,,,				2504	0				NSCLC(125;1384 1783 2490 7422 34254)	ENST00000404039.1																			0				NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	71						c.(73-75)ccG>ccA		dipeptidyl-peptidase 6							133	132	133					7																	154143322		1894	4124	6018	SO:0001819	synonymous_variant	1804				cell death|proteolysis	integral to membrane	dipeptidyl-peptidase activity|serine-type peptidase activity	g.chr7:154143322G>A	M96859	CCDS75682.1, CCDS75683.1, CCDS75684.1	7q36.2	2006-08-07	2006-01-12		ENSG00000130226	ENSG00000130226			3010	protein-coding gene	gene with protein product		126141	"dipeptidylpeptidase VI", "dipeptidylpeptidase 6"			1729689	Standard	XM_006715871		Approved	DPPX	uc003wlk.3	P42658	OTTHUMG00000151511	ENST00000377770.3:c.267G>A	7.37:g.154143322G>A						DPP6_ENST00000332007.3_Silent_p.P27P|DPP6_ENST00000427557.1_Silent_p.P27P|DPP6_ENST00000406326.1_Silent_p.P89P|DPP6_ENST00000496611.1_3'UTR|DPP6_ENST00000377770.3_Silent_p.P89P	p.P25P	NM_001039350.1|NM_001936.3|NM_130797.2	NP_001034439.1|NP_001927.3|NP_570629.2	P42658	DPP6_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0562)		2	662	+	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	89						Silent	SNP	ENST00000377770.3	37	c.75G>A																																																																																					0.423	DPP6-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000322932.1	NM_130797		17	23	0	0	0	1	0	17	23					A	154143322	G	A	154143322	2	1	435	1	0	0	0	0	0	0	0	1	4730	1074	38	1		1	DPP6	7	154143322	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	1621128	154143322	4995341	3902	24827											
PAXIP1	22976	broad.mit.edu	37	chr7	154767949	154767949	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgaggatgataaaatgcttcGtcctttttggttttctctga	8	17	9	7	2	1	2	0	2	1	0	4	4	2	3	1	2	1	2	1	2	2	6	rs117838262	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:154767949G>A	ENST00000404141.1	-	6	685	c.531C>T	c.(529-531)gaC>gaT	p.D177D	PAXIP1_ENST00000473219.1_5'UTR|PAXIP1_ENST00000397192.1_Silent_p.D177D			Q6ZW49	PAXI1_HUMAN	PAX interacting (with transcription-activation domain) protein 1	177	BRCT 2. {ECO:0000255|PROSITE- ProRule:PRU00033}.|Interaction with PAGR1. {ECO:0000250}.				adipose tissue development (GO:0060612)|chorion development (GO:0060717)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|endothelial cell migration (GO:0043542)|histone H3-K4 methylation (GO:0051568)|positive regulation of histone acetylation (GO:0035066)|positive regulation of histone H3-K36 methylation (GO:0000416)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of isotype switching (GO:0045830)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)|response to ionizing radiation (GO:0010212)|transcription, DNA-templated (GO:0006351)|vasculogenesis (GO:0001570)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)				NS(1)|breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	33	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.0296)	UCEC - Uterine corpus endometrioid carcinoma (81;0.178)		AAAATGCTTCGTCCTTTTTGG	0.403													G|||	2	0.000399361	0	0	5008	,	,		19146	0.002		0	False		,,,				2504	0					ENST00000404141.1																			0				NS(1)|breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	33						c.(529-531)gaC>gaT		PAX interacting (with transcription-activation domain) protein 1							80	73	75					7																	154767949		1903	4142	6045	SO:0001819	synonymous_variant	22976				DNA damage response, signal transduction by p53 class mediator|DNA recombination|DNA repair|histone H3-K4 methylation|positive regulation of histone acetylation|positive regulation of histone H3-K36 methylation|positive regulation of histone H3-K4 methylation|positive regulation of isotype switching|positive regulation of protein ubiquitination|positive regulation of transcription initiation from RNA polymerase II promoter|response to ionizing radiation|transcription, DNA-dependent	histone methyltransferase complex|nuclear matrix		g.chr7:154767949G>A	U80735	CCDS47753.1	7q36	2007-07-06	2005-04-05	2005-04-05	ENSG00000157212	ENSG00000157212			8624	protein-coding gene	gene with protein product		608254	"PAX transcription activation domain interacting protein 1 like"	PAXIP1L		9225980	Standard	XM_005249539		Approved	CAGF29, CAGF28, TNRC2, PTIP	uc022aqf.1	Q6ZW49	OTTHUMG00000151322	ENST00000404141.1:c.531C>T	7.37:g.154767949G>A						PAXIP1_ENST00000473219.1_5'UTR|PAXIP1_ENST00000397192.1_Silent_p.D177D	p.D177D			Q6ZW49	PAXI1_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0296)	UCEC - Uterine corpus endometrioid carcinoma (81;0.178)	6	685	-	all_neural(206;0.119)	all_hematologic(28;0.0592)	177			BRCT 2.|Interaction with PA1 (By similarity).		O15404|Q6N099|Q6ZWH9|Q7Z315|Q86UN0|Q8N4P9|Q96HP2	Silent	SNP	ENST00000404141.1	37	c.531C>T	CCDS47753.1																																																																																				0.403	PAXIP1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322223.1	NM_007349		23	23	0	0	0	1	0	23	23					A	154767949	G	A	154767949	2	1	435	1	0	0	0	0	0	0	0	1	11487	1136	40	1		1	PAXIP1	7	154767949	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	624627	154767949	4370714	3903	24828											
HTR5A	3361	broad.mit.edu	37	chr7	154863323	154863323	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggctccaggaagaccaatagCgtctcacccatatccgaagc	12	6	9	14	2	1	1	1	0	1	1	4	3	3	2	4	2	2	1	4	2	5	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:154863323C>T	ENST00000287907.2	+	1	1290	c.714C>T	c.(712-714)agC>agT	p.S238S	HTR5A-AS1_ENST00000543018.1_5'Flank|HTR5A-AS1_ENST00000493904.1_5'Flank|HTR5A-AS1_ENST00000395731.2_5'Flank	NM_024012.3	NP_076917.1	P47898	5HT5A_HUMAN	5-hydroxytryptamine (serotonin) receptor 5A, G protein-coupled	238					cAMP-mediated signaling (GO:0019933)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|hippocampus development (GO:0021766)|response to estradiol (GO:0032355)|serotonin receptor signaling pathway (GO:0007210)	dendrite (GO:0030425)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)	serotonin receptor activity (GO:0004993)			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(3)|stomach(1)	48	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.0238)	UCEC - Uterine corpus endometrioid carcinoma (81;0.171)	Asenapine(DB06216)|Loxapine(DB00408)|Olanzapine(DB00334)	AGACCAATAGCGTCTCACCCA	0.552																																						ENST00000287907.2																			0				NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(3)|stomach(1)	48						c.(712-714)agC>agT		5-hydroxytryptamine (serotonin) receptor 5A, G protein-coupled							71	69	69					7																	154863323		2203	4300	6503	SO:0001819	synonymous_variant	3361					integral to plasma membrane	serotonin receptor activity	g.chr7:154863323C>T		CCDS5936.1	7q36.1	2012-08-08	2012-02-03		ENSG00000157219	ENSG00000157219		"5-HT (serotonin) receptors", "GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"	5300	protein-coding gene	gene with protein product		601305	"5-hydroxytryptamine (serotonin) receptor 5A"			7988681	Standard	NM_024012		Approved	5-HT5A	uc003wlu.2	P47898	OTTHUMG00000151327	ENST00000287907.2:c.714C>T	7.37:g.154863323C>T							p.S238S	NM_024012.3	NP_076917.1	P47898	5HT5A_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0238)	UCEC - Uterine corpus endometrioid carcinoma (81;0.171)	1	1290	+	all_neural(206;0.119)	all_hematologic(28;0.0592)	238					Q2M2D2	Silent	SNP	ENST00000287907.2	37	c.714C>T	CCDS5936.1																																																																																				0.552	HTR5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322240.1	NM_024012		8	18	0	0	0	1	0	8	18					T	154863323	C	T	154863323	2	4	435	1	0	0	0	0	0	0	0	1	7450	767	27	1		1	HTR5A	7	154863323	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	95374	154863323	4275340	3904	24829											
EN2	2020	broad.mit.edu	37	chr7	155255122	155255122	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acaaagaggacaagcggccgCgcacggcctttaccgccgag	11	3	13	14	6	0	1	0	0	0	1	0	3	0	2	4	3	2	1	4	3	3	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:155255122C>T	ENST00000297375.4	+	2	991	c.742C>T	c.(742-744)Cgc>Tgc	p.R248C		NM_001427.3	NP_001418.2	P19622	HME2_HUMAN	engrailed homeobox 2	248					hindbrain development (GO:0030902)|midbrain development (GO:0030901)|multicellular organismal development (GO:0007275)|neuron development (GO:0048666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	membrane (GO:0016020)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			central_nervous_system(1)|large_intestine(1)|lung(2)	4	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.011)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CAAGCGGCCGCGCACGGCCTT	0.607																																						ENST00000297375.4																			0				central_nervous_system(1)|large_intestine(1)|lung(2)	4						c.(742-744)Cgc>Tgc		engrailed homeobox 2							59	68	65					7																	155255122		2203	4300	6503	SO:0001583	missense	2020					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:155255122C>T		CCDS5940.1	7q36.2	2011-06-20	2007-02-15		ENSG00000164778	ENSG00000164778		"Homeoboxes / ANTP class : NKL subclass"	3343	protein-coding gene	gene with protein product		131310					Standard	NM_001427		Approved		uc003wmb.3	P19622	OTTHUMG00000151354	ENST00000297375.4:c.742C>T	7.37:g.155255122C>T	ENSP00000297375:p.Arg248Cys						p.R248C	NM_001427.3	NP_001418.2	P19622	HME2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.011)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	2	991	+	all_neural(206;0.119)	all_hematologic(28;0.0592)	248					A4D252|Q549U3|Q9UD58	Missense_Mutation	SNP	ENST00000297375.4	37	c.742C>T	CCDS5940.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.058254	0.76074	.	.	ENSG00000164778	ENST00000297375	D	0.99186	-5.53	5.2	4.3	0.51218	Homeodomain-related (1);Homeobox engrailed (1);Homeobox (3);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	D	0.99510	0.9825	H	0.96662	3.86	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98164	1.0448	10	0.87932	D	0	-28.6494	13.5321	0.61627	0.2832:0.7168:0.0:0.0	.	248	P19622	HME2_HUMAN	C	248	ENSP00000297375:R248C	ENSP00000297375:R248C	R	+	1	0	EN2	154947883	0.789000	0.28775	0.681000	0.30009	0.980000	0.70556	1.527000	0.35975	1.302000	0.44855	0.655000	0.94253	CGC		0.607	EN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322337.1	NM_001427		8	46	0	0	0	1	0	8	46					T	155255122	C	T	155255122	3	4	435	1	0	0	0	0	1	0	0	0	5110	768	27	1	748	1	EN2	7	155255122	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	391799	155255122	3883541	3905	24830											
RBM33	155435	broad.mit.edu	37	chr7	155534615	155534615	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacccatagcgccgtcacacGtgatagaaatgagcagcagc	13	6	10	12	3	1	3	1	2	0	1	1	3	1	3	2	0	5	2	2	0	4	3	rs148804732		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:155534615G>A	ENST00000401878.3	+	13	2350	c.2152G>A	c.(2152-2154)Gtg>Atg	p.V718M		NM_053043.2	NP_444271.2	Q96EV2	RBM33_HUMAN	RNA binding motif protein 33	718							nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(3)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	27	all_neural(206;0.101)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.011)	UCEC - Uterine corpus endometrioid carcinoma (81;0.2)		GCCGTCACACGTGATAGAAAT	0.577																																						ENST00000401878.3																			0				breast(3)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	27						c.(2152-2154)Gtg>Atg		RNA binding motif protein 33		G	MET/VAL	0,4406		0,0,2203	90	90	90		2152	5.9	0.2	7	dbSNP_134	90	2,8598	2.2+/-6.3	0,2,4298	no	missense	RBM33	NM_053043.2	21	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	probably-damaging	718/1171	155534615	2,13004	2203	4300	6503	SO:0001583	missense	155435						nucleotide binding|RNA binding	g.chr7:155534615G>A	AL832196	CCDS5941.2	7q36.3	2013-02-12			ENSG00000184863	ENSG00000184863		"RNA binding motif (RRM) containing"	27223	protein-coding gene	gene with protein product			"proline rich 8"	PRR8			Standard	NM_053043		Approved	DKFZp686F102, MGC20460, DKFZp434D1319	uc010lqk.1	Q96EV2	OTTHUMG00000150260	ENST00000401878.3:c.2152G>A	7.37:g.155534615G>A	ENSP00000384160:p.Val718Met						p.V718M	NM_053043.2	NP_444271.2	Q96EV2	RBM33_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.011)	UCEC - Uterine corpus endometrioid carcinoma (81;0.2)	13	2350	+	all_neural(206;0.101)	all_hematologic(28;0.0592)	718					A4D244|B5MC24|Q52LF5|Q75LN9|Q75ML5|Q9NSV0	Missense_Mutation	SNP	ENST00000401878.3	37	c.2152G>A	CCDS5941.2	.	.	.	.	.	.	.	.	.	.	G	13.44	2.237947	0.39598	0.0	2.33E-4	ENSG00000184863	ENST00000401878	T	0.48836	0.8	5.88	5.88	0.94601	.	0.099197	0.44285	D	0.000471	T	0.63498	0.2516	L	0.56769	1.78	0.58432	D	0.999998	D;D	0.89917	0.997;1.0	P;D	0.70487	0.754;0.969	T	0.58451	-0.7634	10	0.34782	T	0.22	.	14.9946	0.71421	0.0:0.0:0.8575:0.1425	.	435;718	B4DVQ2;Q96EV2	.;RBM33_HUMAN	M	718	ENSP00000384160:V718M	ENSP00000384160:V718M	V	+	1	0	RBM33	155227376	0.933000	0.31639	0.199000	0.23439	0.013000	0.08279	3.403000	0.52615	2.790000	0.95986	0.591000	0.81541	GTG		0.577	RBM33-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317225.3	NM_001008408		26	33	0	0	0	1	0	26	33					A	155534615	G	A	155534615	3	1	435	1	0	0	0	0	1	0	0	0	13130	1145	40	1	2202	1	RBM33	7	155534615	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	279493	155534615	3604048	3906	24831											
RBM33	155435	broad.mit.edu	37	chr7	155537713	155537713	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaagatagaagaacagaaacGcctaagagaagaaatcctga	22	4	9	6	1	0	7	0	1	0	6	1	8	1	7	2	0	2	0	2	0	8	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:155537713G>A	ENST00000401878.3	+	14	2594	c.2396G>A	c.(2395-2397)cGc>cAc	p.R799H	RBM33_ENST00000341148.3_5'Flank	NM_053043.2	NP_444271.2	Q96EV2	RBM33_HUMAN	RNA binding motif protein 33	799							nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(3)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	27	all_neural(206;0.101)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.011)	UCEC - Uterine corpus endometrioid carcinoma (81;0.2)		GAACAGAAACGCCTAAGAGAA	0.463																																						ENST00000401878.3																			0				breast(3)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	27						c.(2395-2397)cGc>cAc		RNA binding motif protein 33							24	26	25					7																	155537713		2203	4300	6503	SO:0001583	missense	155435						nucleotide binding|RNA binding	g.chr7:155537713G>A	AL832196	CCDS5941.2	7q36.3	2013-02-12			ENSG00000184863	ENSG00000184863		"RNA binding motif (RRM) containing"	27223	protein-coding gene	gene with protein product			"proline rich 8"	PRR8			Standard	NM_053043		Approved	DKFZp686F102, MGC20460, DKFZp434D1319	uc010lqk.1	Q96EV2	OTTHUMG00000150260	ENST00000401878.3:c.2396G>A	7.37:g.155537713G>A	ENSP00000384160:p.Arg799His						p.R799H	NM_053043.2	NP_444271.2	Q96EV2	RBM33_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.011)	UCEC - Uterine corpus endometrioid carcinoma (81;0.2)	14	2594	+	all_neural(206;0.101)	all_hematologic(28;0.0592)	799					A4D244|B5MC24|Q52LF5|Q75LN9|Q75ML5|Q9NSV0	Missense_Mutation	SNP	ENST00000401878.3	37	c.2396G>A	CCDS5941.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	29.1|29.1	4.976190|4.976190	0.92982|0.92982	.|.	.|.	ENSG00000184863|ENSG00000184863	ENST00000392761|ENST00000401878	.|T	.|0.61274	.|0.12	5.95|5.95	5.95|5.95	0.96441|0.96441	.|.	.|0.000000	.|0.64402	.|D	.|0.000002	T|T	0.75997|0.75997	0.3926|0.3926	M|M	0.63843|0.63843	1.955|1.955	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.91635	.|0.999;0.998	T|T	0.75883|0.75883	-0.3160|-0.3160	5|10	.|0.72032	.|D	.|0.01	.|.	20.3931|20.3931	0.98965|0.98965	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|516;799	.|B4DVQ2;Q96EV2	.|.;RBM33_HUMAN	T|H	571|799	.|ENSP00000384160:R799H	.|ENSP00000384160:R799H	A|R	+|+	1|2	0|0	RBM33|RBM33	155230474|155230474	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.982000|0.982000	0.71751|0.71751	9.027000|9.027000	0.93706|0.93706	2.824000|2.824000	0.97209|0.97209	0.655000|0.655000	0.94253|0.94253	GCC|CGC		0.463	RBM33-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317225.3	NM_001008408		3	7	0	0	0	1	0	3	7					A	155537713	G	A	155537713	3	1	435	1	0	0	0	0	1	0	0	0	13130	1087	38	1	2450	1	RBM33	7	155537713	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	3098	155537713	3600950	3907	24832											
RNF32	140545	broad.mit.edu	37	chr7	156437440	156437440	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttgatcccaaaccgccgcCgttgactttgggtaagctga	8	11	10	12	3	1	3	0	3	1	0	2	3	2	3	4	1	2	3	4	1	2	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:156437440C>T	ENST00000405335.1	+	4	672	c.263C>T	c.(262-264)cCg>cTg	p.P88L	RNF32_ENST00000343665.4_Missense_Mutation_p.P88L|RNF32_ENST00000432459.2_Missense_Mutation_p.P88L|RNF32_ENST00000480011.1_3'UTR|RNF32_ENST00000392743.2_Missense_Mutation_p.P88L|RNF32_ENST00000311822.8_Missense_Mutation_p.P88L|RNF32_ENST00000392740.1_Missense_Mutation_p.P88L|RNF32_ENST00000392741.2_Missense_Mutation_p.P88L|RNF32_ENST00000317955.5_Missense_Mutation_p.P88L			Q9H0A6	RNF32_HUMAN	ring finger protein 32	88						aggresome (GO:0016235)|endosome (GO:0005768)	zinc ion binding (GO:0008270)			cervix(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(2)	15	Ovarian(565;0.218)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.00291)	UCEC - Uterine corpus endometrioid carcinoma (81;0.169)		AAACCGCCGCCGTTGACTTTG	0.343																																						ENST00000392741.2																			0				cervix(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(2)	15						c.(262-264)cCg>cTg		ring finger protein 32							64	69	67					7																	156437440		2203	4300	6503	SO:0001583	missense	140545					aggresome|endosome	protein binding|zinc ion binding	g.chr7:156437440C>T		CCDS5944.1	7q36	2013-08-05			ENSG00000105982	ENSG00000105982		"RING-type (C3HC4) zinc fingers"	17118	protein-coding gene	gene with protein product		610241				11890671	Standard	NM_001184996		Approved	FKSG33, HSD15, LMBR2	uc003wmr.3	Q9H0A6	OTTHUMG00000151440	ENST00000405335.1:c.263C>T	7.37:g.156437440C>T	ENSP00000385285:p.Pro88Leu					RNF32_ENST00000343665.4_Missense_Mutation_p.P88L|RNF32_ENST00000311822.8_Missense_Mutation_p.P88L|RNF32_ENST00000432459.2_Missense_Mutation_p.P88L|RNF32_ENST00000317955.5_Missense_Mutation_p.P88L|RNF32_ENST00000405335.1_Missense_Mutation_p.P88L|RNF32_ENST00000392740.1_Missense_Mutation_p.P88L|RNF32_ENST00000480011.1_3'UTR|RNF32_ENST00000392743.2_Missense_Mutation_p.P88L	p.P88L			Q9H0A6	RNF32_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00291)	UCEC - Uterine corpus endometrioid carcinoma (81;0.169)	2	351	+	Ovarian(565;0.218)	all_hematologic(28;0.0592)	88					Q6FIB3|Q6X7T4|Q8N6V8|Q8TDG0|Q96BM5|Q9Y6U1	Missense_Mutation	SNP	ENST00000405335.1	37	c.263C>T	CCDS5944.1	.	.	.	.	.	.	.	.	.	.	C	10.37	1.331851	0.24167	.	.	ENSG00000105982	ENST00000404282;ENST00000432459;ENST00000317955;ENST00000405335;ENST00000311822;ENST00000392743;ENST00000392741;ENST00000343665;ENST00000392740	D;D;D;D;D;D;D;T	0.91686	-2.89;-2.89;-2.89;-2.89;-2.89;-2.89;-2.89;1.78	5.17	4.28	0.50868	.	0.224693	0.46145	D	0.000317	D	0.95326	0.8483	M	0.81341	2.54	0.25656	N	0.986058	D;D;D;D	0.89917	0.999;1.0;1.0;1.0	P;D;D;D	0.75020	0.873;0.985;0.977;0.956	D	0.89625	0.3851	10	0.72032	D	0.01	-10.4956	10.6689	0.45747	0.2614:0.6122:0.1264:0.0	.	88;88;88;88	Q9H0A6-4;G5E940;Q9H0A6-2;Q9H0A6	.;.;.;RNF32_HUMAN	L	88	ENSP00000385815:P88L;ENSP00000405588:P88L;ENSP00000315950:P88L;ENSP00000385285:P88L;ENSP00000308894:P88L;ENSP00000376499:P88L;ENSP00000376497:P88L;ENSP00000341185:P88L	ENSP00000308894:P88L	P	+	2	0	RNF32	156130201	0.376000	0.25098	0.009000	0.14445	0.001000	0.01503	1.937000	0.40193	1.153000	0.42468	-0.181000	0.13052	CCG		0.343	RNF32-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322660.2	NM_030936		27	53	0	0	0	1	0	27	53					T	156437440	C	T	156437440	3	4	435	1	0	0	0	0	1	0	0	0	13488	652	23	2	269	2	RNF32	7	156437440	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	899727	156437440	2701223	3908	24833											
LMBR1	64327	broad.mit.edu	37	chr7	156549095	156549095	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atataaacataccatttagtCgtctctggagtgcttcttcc	10	15	6	10	1	2	0	0	0	2	0	5	1	3	1	2	1	3	1	2	1	5	7			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:156549095C>T	ENST00000353442.5	-	9	985	c.749G>A	c.(748-750)cGa>cAa	p.R250Q	LMBR1_ENST00000354505.4_Missense_Mutation_p.R250Q|LMBR1_ENST00000540390.1_Missense_Mutation_p.R229Q|LMBR1_ENST00000359422.4_Missense_Mutation_p.R98Q	NM_022458.3	NP_071903.2	Q8WVP7	LMBR1_HUMAN	limb development membrane protein 1	250					embryonic digit morphogenesis (GO:0042733)	integral component of membrane (GO:0016021)				breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|skin(1)	18	Ovarian(565;0.218)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.00231)	UCEC - Uterine corpus endometrioid carcinoma (81;0.208)		ACCATTTAGTCGTCTCTGGAG	0.269																																						ENST00000353442.4																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|skin(1)	18						c.(748-750)cGa>cAa		limb development membrane protein 1							69	75	73					7																	156549095		2202	4292	6494	SO:0001583	missense	64327					integral to membrane	receptor activity	g.chr7:156549095C>T	AF107454	CCDS5945.1	7q36.3	2013-08-05	2013-08-05	2005-07-25	ENSG00000105983	ENSG00000105983			13243	protein-coding gene	gene with protein product		605522	"chromosome 7 open reading frame 2", "limb region 1 homolog (mouse)"	C7orf2		10329000, 11090342	Standard	NM_022458		Approved	ACHP, FLJ11665, ZRS	uc003wmw.4	Q8WVP7	OTTHUMG00000151510	ENST00000353442.5:c.749G>A	7.37:g.156549095C>T	ENSP00000326604:p.Arg250Gln					LMBR1_ENST00000359422.4_Missense_Mutation_p.R98Q|LMBR1_ENST00000354505.4_Missense_Mutation_p.R250Q|LMBR1_ENST00000540390.1_Missense_Mutation_p.R229Q	p.R250Q	NM_022458.3	NP_071903.2	Q8WVP7	LMBR1_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00231)	UCEC - Uterine corpus endometrioid carcinoma (81;0.208)	9	985	-	Ovarian(565;0.218)	all_hematologic(28;0.0592)	250					A4D242|Q8N3E3|Q96QZ5|Q9H5N0|Q9HAG9|Q9UDN5|Q9Y6U2	Missense_Mutation	SNP	ENST00000353442.5	37	c.749G>A	CCDS5945.1	.	.	.	.	.	.	.	.	.	.	C	17.62	3.434690	0.62955	.	.	ENSG00000105983	ENST00000353442;ENST00000359422;ENST00000415428;ENST00000354505;ENST00000540390	T;T;T;T;T	0.30182	1.54;1.54;1.54;1.54;1.54	5.53	5.53	0.82687	LMBR1-like membrane protein (1);	0.094092	0.64402	D	0.000001	T	0.30198	0.0757	L	0.52011	1.625	0.44890	D	0.9979	P;P;P	0.47484	0.572;0.896;0.574	B;B;B	0.43123	0.14;0.409;0.086	T	0.06409	-1.0828	10	0.66056	D	0.02	-7.4232	9.7124	0.40254	0.0:0.842:0.0:0.158	.	229;250;250	B7Z633;Q8WVP7-3;Q8WVP7	.;.;LMBR1_HUMAN	Q	250;98;248;250;229	ENSP00000326604:R250Q;ENSP00000352392:R98Q;ENSP00000408256:R248Q;ENSP00000346500:R250Q;ENSP00000445509:R229Q	ENSP00000326604:R250Q	R	-	2	0	LMBR1	156241856	0.999000	0.42202	0.998000	0.56505	0.758000	0.43043	1.812000	0.38952	2.605000	0.88082	0.655000	0.94253	CGA		0.269	LMBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347939.3	NM_022458		25	44	0	0	0	1	0	25	44					T	156549095	C	T	156549095	3	4	435	1	0	0	0	0	1	0	0	0	8840	884	31	2	759	2	LMBR1	7	156549095	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	111655	156549095	2589568	3909	24834											
NOM1	64434	broad.mit.edu	37	chr7	156752697	156752698	+	Frame_Shift_Ins	INS	-	-	A																															tcctcatcttcgacattttgINSaaaaaactgattggaacttt																										TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:156752697_156752698insA	ENST00000275820.3	+	4	1476_1477	c.1461_1462insA	c.(1462-1464)aaafs	p.K488fs	NOM1_ENST00000460332.1_3'UTR	NM_138400.1	NP_612409.1	Q5C9Z4	NOM1_HUMAN	nucleolar protein with MIF4G domain 1	488	MIF4G. {ECO:0000255|PROSITE- ProRule:PRU00698}.					nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(5)|kidney(4)|large_intestine(9)|lung(7)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	31	Ovarian(565;0.218)	all_hematologic(28;0.0749)	OV - Ovarian serous cystadenocarcinoma(82;0.00301)	UCEC - Uterine corpus endometrioid carcinoma (81;0.169)		TCGACATTTTGAAAAAACTGAT	0.391																																						ENST00000275820.3																			0				endometrium(5)|kidney(4)|large_intestine(9)|lung(7)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	31						c.(1459-1464)ttaaaafs		nucleolar protein with MIF4G domain 1																																				SO:0001589	frameshift_variant	64434				RNA metabolic process	nucleolus	protein binding	g.chr7:156752697_156752698insA	AF107455	CCDS34787.1	7q36.3	2014-06-13	2005-03-30	2005-03-30	ENSG00000146909	ENSG00000146909			13244	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 113"	611269	"chromosome 7 open reading frame 3"	C7orf3		10329000	Standard	XM_005249560		Approved	SGD1, PPP1R113	uc003wmy.3	Q5C9Z4	OTTHUMG00000152639	ENST00000275820.3:c.1467dupA	7.37:g.156752703_156752703dupA	ENSP00000275820:p.Lys488fs					NOM1_ENST00000460332.1_3'UTR	p.LK487fs	NM_138400.1	NP_612409.1	Q5C9Z4	NOM1_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00301)	UCEC - Uterine corpus endometrioid carcinoma (81;0.169)	4	1476_1477	+	Ovarian(565;0.218)	all_hematologic(28;0.0749)	487			MIF4G.		Q96I08	Frame_Shift_Ins	INS	ENST00000275820.3	37	c.1461_1462insA	CCDS34787.1																																																																																				0.391	NOM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327098.1	NM_138400		24	43						24	43	---	---	---	---	A	156752698	-	A	156752697	7	5	435	1	0	1	1	0	0	0	0	0	10530	1281	45	0	1475	0	NOM1	7	156752697	Frame_Shift_Ins	INS	-	TCGA-XK-AAIW-01A-11D-A41K-08	203602	156752697	2385966	3910	24835											
NOM1	64434	broad.mit.edu	37	chr7	156754894	156754894	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cctgaagaacaatgacatgcGcaaaattccaggctatgacc	15	7	8	11	1	0	4	0	3	0	1	1	4	1	4	3	1	2	2	3	1	6	2	rs375066764		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:156754894G>A	ENST00000275820.3	+	5	1697	c.1682G>A	c.(1681-1683)cGc>cAc	p.R561H		NM_138400.1	NP_612409.1	Q5C9Z4	NOM1_HUMAN	nucleolar protein with MIF4G domain 1	561						nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.R561H(1)		endometrium(5)|kidney(4)|large_intestine(9)|lung(7)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	31	Ovarian(565;0.218)	all_hematologic(28;0.0749)	OV - Ovarian serous cystadenocarcinoma(82;0.00301)	UCEC - Uterine corpus endometrioid carcinoma (81;0.169)		AATGACATGCGCAAAATTCCA	0.433																																						ENST00000275820.3																			1	Substitution - Missense(1)	p.R561H(1)	prostate(1)	endometrium(5)|kidney(4)|large_intestine(9)|lung(7)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	31						c.(1681-1683)cGc>cAc		nucleolar protein with MIF4G domain 1		G	HIS/ARG	0,4406		0,0,2203	206	205	205		1682	4.5	1	7		205	1,8599	1.2+/-3.3	0,1,4299	no	missense	NOM1	NM_138400.1	29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging	561/861	156754894	1,13005	2203	4300	6503	SO:0001583	missense	64434				RNA metabolic process	nucleolus	protein binding	g.chr7:156754894G>A	AF107455	CCDS34787.1	7q36.3	2014-06-13	2005-03-30	2005-03-30	ENSG00000146909	ENSG00000146909			13244	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 113"	611269	"chromosome 7 open reading frame 3"	C7orf3		10329000	Standard	XM_005249560		Approved	SGD1, PPP1R113	uc003wmy.3	Q5C9Z4	OTTHUMG00000152639	ENST00000275820.3:c.1682G>A	7.37:g.156754894G>A	ENSP00000275820:p.Arg561His						p.R561H	NM_138400.1	NP_612409.1	Q5C9Z4	NOM1_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00301)	UCEC - Uterine corpus endometrioid carcinoma (81;0.169)	5	1697	+	Ovarian(565;0.218)	all_hematologic(28;0.0749)	561					Q96I08	Missense_Mutation	SNP	ENST00000275820.3	37	c.1682G>A	CCDS34787.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.181626	0.78677	0.0	1.16E-4	ENSG00000146909	ENST00000275820	T	0.23348	1.91	4.52	4.52	0.55395	Armadillo-type fold (1);	0.000000	0.85682	U	0.000000	T	0.33585	0.0868	M	0.77616	2.38	0.80722	D	1	P	0.44139	0.827	B	0.38803	0.282	T	0.47182	-0.9137	10	0.66056	D	0.02	-9.3841	17.2978	0.87173	0.0:0.0:1.0:0.0	.	561	Q5C9Z4	NOM1_HUMAN	H	561	ENSP00000275820:R561H	ENSP00000275820:R561H	R	+	2	0	NOM1	156447655	1.000000	0.71417	0.989000	0.46669	0.946000	0.59487	7.238000	0.78173	2.062000	0.61559	0.543000	0.68304	CGC		0.433	NOM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327098.1	NM_138400		50	91	0	0	0	1	0	50	91					A	156754894	G	A	156754894	3	1	435	1	0	0	0	0	1	0	0	0	10530	1087	38	1	1700	1	NOM1	7	156754894	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	2197	156754894	2383769	3911	24836											
MNX1	3110	broad.mit.edu	37	chr7	156798500	156798500	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgtttctccgcttcctgcGccgcctgctctttggccttt	0	17	8	16	3	3	0	0	0	3	0	5	0	4	0	5	1	2	3	5	1	0	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:156798500G>A	ENST00000252971.6	-	3	1220	c.920C>T	c.(919-921)gCg>gTg	p.A307V	MNX1_ENST00000543409.1_Missense_Mutation_p.A95V|MNX1-AS2_ENST00000429228.1_RNA|MNX1_ENST00000469500.1_Intron	NM_005515.3	NP_005506.3	P50219	MNX1_HUMAN	motor neuron and pancreas homeobox 1	307					anatomical structure morphogenesis (GO:0009653)|diaphragm development (GO:0060539)|dorsal/ventral neural tube patterning (GO:0021904)|endocrine pancreas development (GO:0031018)|humoral immune response (GO:0006959)|motor neuron axon guidance (GO:0008045)|nerve development (GO:0021675)|neuron migration (GO:0001764)|post-embryonic development (GO:0009791)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|spinal cord motor neuron cell fate specification (GO:0021520)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|large_intestine(1)|lung(4)|skin(1)	7	Ovarian(565;0.218)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.00301)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CGCTTCCTGCGCCGCCTGCTC	0.687																																						ENST00000252971.6																			0				endometrium(1)|large_intestine(1)|lung(4)|skin(1)	7						c.(919-921)gCg>gTg		motor neuron and pancreas homeobox 1							28	37	34					7																	156798500		2203	4298	6501	SO:0001583	missense	3110				humoral immune response|regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:156798500G>A	AF107457	CCDS34788.1, CCDS55187.1	7q36	2012-03-09	2007-08-09	2007-08-09	ENSG00000130675	ENSG00000130675		"Homeoboxes / ANTP class : HOXL subclass"	4979	protein-coding gene	gene with protein product		142994	"homeo box HB9", "homeobox HB9"	HLXB9		9843207	Standard	NM_001165255		Approved	HB9, HOXHB9, SCRA1	uc003wmz.4	P50219	OTTHUMG00000157181	ENST00000252971.6:c.920C>T	7.37:g.156798500G>A	ENSP00000252971:p.Ala307Val					MNX1_ENST00000543409.1_Missense_Mutation_p.A95V|MNX1_ENST00000469500.1_Intron	p.A307V	NM_005515.3	NP_005506.3	P50219	MNX1_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00301)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	3	1220	-	Ovarian(565;0.218)	all_hematologic(28;0.0592)	307					F5H401|Q9Y648	Missense_Mutation	SNP	ENST00000252971.6	37	c.920C>T	CCDS34788.1	.	.	.	.	.	.	.	.	.	.	G	26.6	4.756747	0.89843	.	.	ENSG00000130675	ENST00000252971;ENST00000543409;ENST00000542972	D;D	0.93426	-2.91;-3.22	4.12	4.12	0.48240	.	0.000000	0.39909	U	0.001227	D	0.88310	0.6402	L	0.54323	1.7	0.46478	D	0.999063	P;P;P	0.46859	0.885;0.885;0.868	B;B;B	0.34301	0.106;0.179;0.127	D	0.87342	0.2332	10	0.39692	T	0.17	-13.6831	10.1851	0.42993	0.0959:0.0:0.9041:0.0	.	143;307;95	Q9UDY3;P50219;F5H401	.;MNX1_HUMAN;.	V	307;95;137	ENSP00000252971:A307V;ENSP00000438552:A95V	ENSP00000252971:A307V	A	-	2	0	MNX1	156491261	1.000000	0.71417	0.998000	0.56505	0.930000	0.56654	7.019000	0.76412	2.000000	0.58554	0.306000	0.20318	GCG		0.687	MNX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347796.3			27	57	0	0	0	1	0	27	57					A	156798500	G	A	156798500	3	1	435	1	0	0	0	0	1	0	0	0	9679	1087	38	1	289	1	MNX1	7	156798500	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	43606	156798500	2340163	3912	24837											
UBE3C	9690	broad.mit.edu	37	chr7	157000543	157000543	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttcgagaagaatatattacaGcatttcagagtattggagtt	14	14	9	4	1	1	3	1	0	0	3	2	5	1	4	0	1	2	3	0	1	6	8			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:157000543G>T	ENST00000348165.5	+	13	2083	c.1723G>T	c.(1723-1725)Gca>Tca	p.A575S		NM_014671.2	NP_055486.2	Q15386	UBE3C_HUMAN	ubiquitin protein ligase E3C	575					protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634)|proteasome complex (GO:0000502)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			central_nervous_system(2)|endometrium(3)|kidney(16)|large_intestine(13)|lung(25)|ovary(2)|prostate(1)|urinary_tract(1)	63		all_hematologic(28;0.0185)|all_epithelial(9;0.0664)	OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)		ATATATTACAGCATTTCAGAG	0.393																																						ENST00000348165.5																			0				central_nervous_system(2)|endometrium(3)|kidney(16)|large_intestine(13)|lung(25)|ovary(2)|prostate(1)|urinary_tract(1)	63						c.(1723-1725)Gca>Tca		ubiquitin protein ligase E3C							111	112	112					7																	157000543		2203	4300	6503	SO:0001583	missense	9690				protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus|proteasome complex	protein binding|ubiquitin-protein ligase activity	g.chr7:157000543G>T	AK127280	CCDS34789.1	7q36.3	2004-05-04			ENSG00000009335	ENSG00000009335			16803	protein-coding gene	gene with protein product		614454				7584026, 11278995	Standard	NM_014671		Approved	KIAA0010, KIAA10	uc010lqs.3	Q15386	OTTHUMG00000157239	ENST00000348165.5:c.1723G>T	7.37:g.157000543G>T	ENSP00000309198:p.Ala575Ser						p.A575S	NM_014671.2	NP_055486.2	Q15386	UBE3C_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)	13	2083	+		all_hematologic(28;0.0185)|all_epithelial(9;0.0664)	575					A4D235|A6NCP3|Q8TC15|Q96CR4|Q9UDU3	Missense_Mutation	SNP	ENST00000348165.5	37	c.1723G>T	CCDS34789.1	.	.	.	.	.	.	.	.	.	.	G	14.99	2.700980	0.48307	.	.	ENSG00000009335	ENST00000348165	T	0.48201	0.82	5.56	5.56	0.83823	.	0.000000	0.85682	D	0.000000	T	0.67363	0.2885	M	0.71581	2.175	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.78314	0.959;0.991	T	0.60777	-0.7196	10	0.16420	T	0.52	-21.1274	19.5257	0.95206	0.0:0.0:1.0:0.0	.	575;575	Q15386;Q15386-2	UBE3C_HUMAN;.	S	575	ENSP00000309198:A575S	ENSP00000309198:A575S	A	+	1	0	UBE3C	156693304	1.000000	0.71417	0.131000	0.22000	0.003000	0.03518	8.834000	0.92094	2.614000	0.88457	0.655000	0.94253	GCA		0.393	UBE3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348108.1	NM_014671		19	28	1	0	1.96292e-10	1	2.09789e-10	19	28					T	157000543	G	T	157000543	3	4	435	1	0	0	0	0	1	0	0	0	16878	971	34	5	1773	5	UBE3C	7	157000543	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	202043	157000543	2138120	3913	24838											
UBE3C	9690	broad.mit.edu	37	chr7	157041158	157041158	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acgtggacattcaccacctcGcctccctagaccctgaggtg	8	8	9	16	2	1	2	1	1	0	1	3	3	2	3	5	2	0	0	5	2	1	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:157041158G>A	ENST00000348165.5	+	19	2938	c.2578G>A	c.(2578-2580)Gcc>Acc	p.A860T		NM_014671.2	NP_055486.2	Q15386	UBE3C_HUMAN	ubiquitin protein ligase E3C	860	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634)|proteasome complex (GO:0000502)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			central_nervous_system(2)|endometrium(3)|kidney(16)|large_intestine(13)|lung(25)|ovary(2)|prostate(1)|urinary_tract(1)	63		all_hematologic(28;0.0185)|all_epithelial(9;0.0664)	OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)		TCACCACCTCGCCTCCCTAGA	0.507																																						ENST00000348165.5																			0				central_nervous_system(2)|endometrium(3)|kidney(16)|large_intestine(13)|lung(25)|ovary(2)|prostate(1)|urinary_tract(1)	63						c.(2578-2580)Gcc>Acc		ubiquitin protein ligase E3C							146	146	146					7																	157041158		2203	4300	6503	SO:0001583	missense	9690				protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus|proteasome complex	protein binding|ubiquitin-protein ligase activity	g.chr7:157041158G>A	AK127280	CCDS34789.1	7q36.3	2004-05-04			ENSG00000009335	ENSG00000009335			16803	protein-coding gene	gene with protein product		614454				7584026, 11278995	Standard	NM_014671		Approved	KIAA0010, KIAA10	uc010lqs.3	Q15386	OTTHUMG00000157239	ENST00000348165.5:c.2578G>A	7.37:g.157041158G>A	ENSP00000309198:p.Ala860Thr						p.A860T	NM_014671.2	NP_055486.2	Q15386	UBE3C_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)	19	2938	+		all_hematologic(28;0.0185)|all_epithelial(9;0.0664)	860			HECT.		A4D235|A6NCP3|Q8TC15|Q96CR4|Q9UDU3	Missense_Mutation	SNP	ENST00000348165.5	37	c.2578G>A	CCDS34789.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.250496	0.80024	.	.	ENSG00000009335	ENST00000348165	T	0.57436	0.4	5.74	5.74	0.90152	HECT (4);	0.046455	0.85682	D	0.000000	T	0.69333	0.3099	M	0.69523	2.12	0.80722	D	1	D;P	0.56968	0.978;0.854	P;P	0.60473	0.875;0.809	T	0.63084	-0.6716	10	0.22109	T	0.4	.	19.9122	0.97029	0.0:0.0:1.0:0.0	.	860;713	Q15386;B4DHJ9	UBE3C_HUMAN;.	T	860	ENSP00000309198:A860T	ENSP00000309198:A860T	A	+	1	0	UBE3C	156733919	1.000000	0.71417	0.950000	0.38849	0.040000	0.13550	9.360000	0.97119	2.702000	0.92279	0.655000	0.94253	GCC		0.507	UBE3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348108.1	NM_014671		10	134	0	0	0	1	0	10	134					A	157041158	G	A	157041158	3	1	435	1	0	0	0	0	1	0	0	0	16878	1087	38	1	2652	1	UBE3C	7	157041158	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	40615	157041158	2097505	3914	24839											
ERICH1	157697	broad.mit.edu	37	chr8	642503	642503	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtgtcatccccgctggaggcGttctcggggctcccacagct	4	9	13	15	3	2	0	1	0	1	0	5	1	4	1	3	4	1	4	3	4	0	1	rs375079153		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:642503G>A	ENST00000262109.7	-	3	356	c.279C>T	c.(277-279)aaC>aaT	p.N93N	ERICH1_ENST00000518277.1_5'UTR|ERICH1_ENST00000522706.1_Intron	NM_207332.1	NP_997215.1	Q86X53	ERIC1_HUMAN	glutamate-rich 1	93										endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|pancreas(1)	20		Colorectal(14;0.158)|Ovarian(12;0.17)|Myeloproliferative disorder(644;0.185)|Hepatocellular(245;0.236)		Epithelial(5;3.29e-14)|BRCA - Breast invasive adenocarcinoma(11;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(5;3.65e-06)|READ - Rectum adenocarcinoma(1;0.0325)		CGCTGGAGGCGTTCTCGGGGC	0.582													G|||	1	0.000199681	0	0	5008	,	,		16496	0		0	False		,,,				2504	0.001					ENST00000262109.7																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|pancreas(1)	20						c.(277-279)aaC>aaT		glutamate-rich 1		G		0,4406		0,0,2203	64	69	67		279	-8.2	0	8		67	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	ERICH1	NM_207332.1		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		93/444	642503	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	157697							g.chr8:642503G>A		CCDS5955.1	8p23.3	2005-09-01			ENSG00000104714	ENSG00000104714			27234	protein-coding gene	gene with protein product							Standard	NM_207332		Approved		uc003wph.3	Q86X53	OTTHUMG00000129163	ENST00000262109.7:c.279C>T	8.37:g.642503G>A						ERICH1_ENST00000518277.1_5'UTR|ERICH1_ENST00000522706.1_Intron	p.N93N	NM_207332.1	NP_997215.1	Q86X53	ERIC1_HUMAN		Epithelial(5;3.29e-14)|BRCA - Breast invasive adenocarcinoma(11;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(5;3.65e-06)|READ - Rectum adenocarcinoma(1;0.0325)	3	356	-		Colorectal(14;0.158)|Ovarian(12;0.17)|Myeloproliferative disorder(644;0.185)|Hepatocellular(245;0.236)	93					A8K2J9|Q9P063	Silent	SNP	ENST00000262109.7	37	c.279C>T	CCDS5955.1																																																																																				0.582	ERICH1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251228.3	NM_207332		20	37	0	0	0	1	0	20	37					A	642503	G	A	642503	2	1	435	1	0	0	0	0	0	0	0	1	5230	1136	40	1		1	ERICH1	8	642503	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08		642503	145721519	3915	24840											
DLGAP2	9228	broad.mit.edu	37	chr8	1496891	1496891	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttccggaagtcggacccagcCgccgctgtgttccgggcaca	6	7	13	15	5	0	0	0	0	0	0	3	2	2	2	5	3	1	3	5	3	1	2	rs569803609	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:1496891C>T	ENST00000421627.2	+	2	166	c.32C>T	c.(31-33)cCg>cTg	p.P11L		NM_004745.3	NP_004736.2	Q9P1A6	DLGP2_HUMAN	discs, large (Drosophila) homolog-associated protein 2	90					neuron-neuron synaptic transmission (GO:0007270)	cell junction (GO:0030054)|neurofilament (GO:0005883)|postsynaptic membrane (GO:0045211)				breast(1)|endometrium(6)|lung(31)|prostate(3)	41		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)		CGGACCCAGCCGCCGCTGTGT	0.706													C|||	6	0.00119808	0	0.0014	5008	,	,		10045	0		0	False		,,,				2504	0.0051					ENST00000421627.2																			0				breast(1)|endometrium(6)|lung(31)|prostate(3)	41						c.(31-33)cCg>cTg		discs, large (Drosophila) homolog-associated protein 2							9	10	9					8																	1496891		1633	3404	5037	SO:0001583	missense	9228				neuron-neuron synaptic transmission	cell junction|neurofilament|postsynaptic density|postsynaptic membrane	protein binding	g.chr8:1496891C>T	AB000275	CCDS47760.1, CCDS75689.1	8p23	2007-12-06	2001-11-28		ENSG00000198010	ENSG00000198010			2906	protein-coding gene	gene with protein product		605438	"discs, large (Drosophila) homolog-associated protein 2"			9286858, 10854099	Standard	NM_004745		Approved	DAP-2	uc003wpl.4	Q9P1A6	OTTHUMG00000163599	ENST00000421627.2:c.32C>T	8.37:g.1496891C>T	ENSP00000400258:p.Pro11Leu						p.P11L	NM_004745.3	NP_004736.2	Q9P1A6	DLGP2_HUMAN		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)	2	166	+		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)	90					A1QCF8|A1QCF9|A5D8Y2|O14488|O14664|Q9P1A7	Missense_Mutation	SNP	ENST00000421627.2	37	c.32C>T	CCDS47760.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.21|11.21	1.571034|1.571034	0.28003|0.28003	.|.	.|.	ENSG00000198010|ENSG00000198010	ENST00000356067;ENST00000421627|ENST00000520901	T|.	0.10477|.	2.87|.	4.83|4.83	4.83|4.83	0.62350|0.62350	.|.	0.466331|.	0.26359|.	N|.	0.024833|.	T|T	0.49898|0.49898	0.1584|0.1584	N|N	0.14661|0.14661	0.345|0.345	0.40803|0.40803	D|D	0.983353|0.983353	B;B|.	0.12013|.	0.003;0.005|.	B;B|.	0.08055|.	0.003;0.003|.	T|T	0.49072|0.49072	-0.8977|-0.8977	10|5	0.44086|.	T|.	0.13|.	-11.0998|-11.0998	17.9068|17.9068	0.88920|0.88920	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	90;90|.	Q9P1A6-2;Q9P1A6|.	.;DLGP2_HUMAN|.	L|C	56;11|28	ENSP00000400258:P11L|.	ENSP00000348366:P56L|.	P|R	+|+	2|1	0|0	DLGAP2|DLGAP2	1484298|1484298	0.971000|0.971000	0.33674|0.33674	0.006000|0.006000	0.13384|0.13384	0.641000|0.641000	0.38312|0.38312	2.565000|2.565000	0.45939|0.45939	2.217000|2.217000	0.71921|0.71921	0.561000|0.561000	0.74099|0.74099	CCG|CGC		0.706	DLGAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374478.1	NM_004745		11	12	0	0	0	1	0	11	12					T	1496891	C	T	1496891	3	4	435	1	0	0	0	0	1	0	0	0	4560	652	23	2	34	2	DLGAP2	8	1496891	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	854388	1496891	144867131	3916	24841											
CLN8	2055	broad.mit.edu	37	chr8	1728597	1728597	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgtcggactggctctgcttaCgctaatcattaatccatatt	9	15	7	10	2	2	0	1	0	1	0	4	1	3	1	1	2	2	3	1	2	4	5	rs138821993	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:1728597C>T	ENST00000331222.4	+	3	972	c.725C>T	c.(724-726)aCg>aTg	p.T242M	CLN8_ENST00000523237.1_3'UTR	NM_018941.3	NP_061764.2	Q9UBY8	CLN8_HUMAN	ceroid-lipofuscinosis, neuronal 8 (epilepsy, progressive with mental retardation)	242	TLC. {ECO:0000255|PROSITE- ProRule:PRU00205}.				adult walking behavior (GO:0007628)|age-dependent response to oxidative stress (GO:0001306)|associative learning (GO:0008306)|cell death (GO:0008219)|cellular protein catabolic process (GO:0044257)|ceramide biosynthetic process (GO:0046513)|ceramide metabolic process (GO:0006672)|cholesterol metabolic process (GO:0008203)|L-glutamate uptake involved in synaptic transmission (GO:0051935)|lipid biosynthetic process (GO:0008610)|lipid transport (GO:0006869)|lysosome organization (GO:0007040)|mitochondrial membrane organization (GO:0007006)|musculoskeletal movement (GO:0050881)|negative regulation of apoptotic process (GO:0043066)|negative regulation of proteolysis (GO:0045861)|negative regulation of transferase activity (GO:0051348)|nervous system development (GO:0007399)|neurofilament cytoskeleton organization (GO:0060052)|neuromuscular process controlling balance (GO:0050885)|neuromuscular process controlling posture (GO:0050884)|phospholipid metabolic process (GO:0006644)|photoreceptor cell maintenance (GO:0045494)|protein catabolic process (GO:0030163)|regulation of cell size (GO:0008361)|retina development in camera-type eye (GO:0060041)|social behavior (GO:0035176)|somatic motor neuron differentiation (GO:0021523)|visual perception (GO:0007601)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)				central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24		Ovarian(12;0.0563)|Colorectal(14;0.0815)|Hepatocellular(245;0.0831)		BRCA - Breast invasive adenocarcinoma(11;7.67e-05)|READ - Rectum adenocarcinoma(644;0.0913)		GCTCTGCTTACGCTAATCATT	0.522													C|||	2	0.000399361	0	0	5008	,	,		16682	0.002		0	False		,,,				2504	0				Pancreas(155;338 1942 6138 10888 50612)	ENST00000331222.4																			0				central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24						c.(724-726)aCg>aTg		ceroid-lipofuscinosis, neuronal 8 (epilepsy, progressive with mental retardation)							204	155	172					8																	1728597		2203	4300	6503	SO:0001583	missense	2055				cell death|ceramide biosynthetic process|cholesterol metabolic process|lipid transport|negative regulation of proteolysis|phospholipid metabolic process	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|integral to membrane		g.chr8:1728597C>T	AF123761	CCDS5956.1	8p23.3	2014-09-17			ENSG00000182372	ENSG00000182372			2079	protein-coding gene	gene with protein product		607837	"chromosome 8 open reading frame 61"	EPMR, C8orf61		10508524	Standard	NM_018941		Approved	FLJ39417	uc003wpo.4	Q9UBY8	OTTHUMG00000090343	ENST00000331222.4:c.725C>T	8.37:g.1728597C>T	ENSP00000328182:p.Thr242Met					CLN8_ENST00000523237.1_3'UTR	p.T242M	NM_018941.3	NP_061764.2	Q9UBY8	CLN8_HUMAN		BRCA - Breast invasive adenocarcinoma(11;7.67e-05)|READ - Rectum adenocarcinoma(644;0.0913)	3	972	+		Ovarian(12;0.0563)|Colorectal(14;0.0815)|Hepatocellular(245;0.0831)	242			TLC.		Q86U71|Q96I95	Missense_Mutation	SNP	ENST00000331222.4	37	c.725C>T	CCDS5956.1	2	9.157509157509158E-4	0	0.0	0	0.0	2	0.0034965034965034965	0	0.0	C	17.38	3.375325	0.61735	.	.	ENSG00000182372	ENST00000331222	D	0.92858	-3.12	5.17	5.17	0.71159	TRAM/LAG1/CLN8 homology domain (3);	0.083761	0.47093	U	0.000245	D	0.95921	0.8672	M	0.76838	2.35	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95013	0.8153	10	0.35671	T	0.21	-15.4057	18.6661	0.91491	0.0:1.0:0.0:0.0	.	242	Q9UBY8	CLN8_HUMAN	M	242	ENSP00000328182:T242M	ENSP00000328182:T242M	T	+	2	0	CLN8	1716004	1.000000	0.71417	0.714000	0.30535	0.003000	0.03518	7.281000	0.78621	2.400000	0.81607	0.650000	0.86243	ACG		0.522	CLN8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206715.2	NM_018941		44	62	0	0	0	1	0	44	62					T	1728597	C	T	1728597	3	4	435	1	0	0	0	0	1	0	0	0	3546	536	19	1	731	1	CLN8	8	1728597	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	231706	1728597	144635425	3917	24842											
ARHGEF10	9639	broad.mit.edu	37	chr8	1857628	1857628	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctggccgtggttgctaacgCgaaaccaagtaagtgatgct	10	9	12	10	3	0	1	0	1	0	0	0	2	0	1	3	2	4	4	3	2	4	3	rs201394769		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:1857628C>T	ENST00000398564.1	+	18	2210	c.2210C>T	c.(2209-2211)gCg>gTg	p.A737V	ARHGEF10_ENST00000262112.6_Missense_Mutation_p.A737V|ARHGEF10_ENST00000518288.1_Missense_Mutation_p.A736V|ARHGEF10_ENST00000520359.1_Missense_Mutation_p.A674V|ARHGEF10_ENST00000349830.3_Missense_Mutation_p.A712V			O15013	ARHGA_HUMAN	Rho guanine nucleotide exchange factor (GEF) 10	737					centrosome duplication (GO:0051298)|myelination in peripheral nervous system (GO:0022011)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of stress fiber assembly (GO:0051496)|spindle assembly involved in mitosis (GO:0090307)	centrosome (GO:0005813)|cytosol (GO:0005829)	kinesin binding (GO:0019894)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			endometrium(3)|large_intestine(11)|lung(11)|prostate(3)|skin(3)|stomach(3)|urinary_tract(1)	35		Colorectal(14;3.46e-05)|Renal(68;0.000518)|Ovarian(12;0.00409)|Myeloproliferative disorder(644;0.0255)|Hepatocellular(245;0.0834)		COAD - Colon adenocarcinoma(149;1.62e-05)|BRCA - Breast invasive adenocarcinoma(11;1.68e-05)|KIRC - Kidney renal clear cell carcinoma(542;0.00361)|READ - Rectum adenocarcinoma(644;0.0718)		GTTGCTAACGCGAAACCAAGT	0.612													C|||	1	0.000199681	0	0.0014	5008	,	,		19030	0		0	False		,,,				2504	0					ENST00000518288.1																			0				endometrium(3)|large_intestine(11)|lung(11)|prostate(3)|skin(3)|stomach(3)|urinary_tract(1)	35						c.(2206-2208)gCg>gTg		Rho guanine nucleotide exchange factor (GEF) 10		C	VAL/ALA	1,4405	2.1+/-5.4	0,1,2202	56	53	54		2135	-1	0	8		54	0,8600		0,0,4300	no	missense	ARHGEF10	NM_014629.2	64	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign	712/1345	1857628	1,13005	2203	4300	6503	SO:0001583	missense	9639				centrosome duplication|myelination in peripheral nervous system|positive regulation of GTP catabolic process|positive regulation of stress fiber assembly|regulation of Rho protein signal transduction|spindle assembly involved in mitosis	centrosome|cytosol|soluble fraction	kinesin binding|Rho guanyl-nucleotide exchange factor activity	g.chr8:1857628C>T	AF009205	CCDS34794.1	8p23	2014-09-17			ENSG00000104728	ENSG00000104728		"Rho guanine nucleotide exchange factors"	14103	protein-coding gene	gene with protein product		608136				9205841, 16896804	Standard	XM_005266039		Approved	KIAA0294, Gef10	uc003wpr.3	O15013	OTTHUMG00000163626	ENST00000398564.1:c.2210C>T	8.37:g.1857628C>T	ENSP00000381571:p.Ala737Val					ARHGEF10_ENST00000349830.3_Missense_Mutation_p.A712V|ARHGEF10_ENST00000398564.1_Missense_Mutation_p.A737V|ARHGEF10_ENST00000520359.1_Missense_Mutation_p.A674V|ARHGEF10_ENST00000262112.6_Missense_Mutation_p.A737V	p.A736V			O15013	ARHGA_HUMAN		COAD - Colon adenocarcinoma(149;1.62e-05)|BRCA - Breast invasive adenocarcinoma(11;1.68e-05)|KIRC - Kidney renal clear cell carcinoma(542;0.00361)|READ - Rectum adenocarcinoma(644;0.0718)	19	2370	+		Colorectal(14;3.46e-05)|Renal(68;0.000518)|Ovarian(12;0.00409)|Myeloproliferative disorder(644;0.0255)|Hepatocellular(245;0.0834)	737					O14665|Q2KHR8|Q68D55|Q8IWD9|Q8IY77	Missense_Mutation	SNP	ENST00000398564.1	37	c.2207C>T		1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	6.166	0.398875	0.11696	2.27E-4	0.0	ENSG00000104728	ENST00000349830;ENST00000520359;ENST00000518288;ENST00000398564;ENST00000262112;ENST00000522435	T;T;T;T;T;T	0.59638	0.27;0.31;0.27;0.27;0.25;0.41	5.07	-1.03	0.10102	.	0.988105	0.08237	N	0.976690	T	0.41442	0.1159	N	0.22421	0.69	0.47905	D	0.999542	B;B;B	0.20671	0.047;0.037;0.005	B;B;B	0.12156	0.004;0.007;0.005	T	0.12268	-1.0554	10	0.32370	T	0.25	-7.7201	10.9716	0.47442	0.0:0.7597:0.0:0.2403	.	737;674;712	O15013;O15013-7;O15013-5	ARHGA_HUMAN;.;.	V	712;674;736;737;737;385	ENSP00000340297:A712V;ENSP00000427909:A674V;ENSP00000431012:A736V;ENSP00000381571:A737V;ENSP00000262112:A737V;ENSP00000427768:A385V	ENSP00000262112:A737V	A	+	2	0	ARHGEF10	1845035	0.003000	0.15002	0.005000	0.12908	0.292000	0.27327	0.141000	0.16076	-0.163000	0.10946	-0.322000	0.08575	GCG		0.612	ARHGEF10-203	KNOWN	basic	protein_coding	protein_coding				11	16	0	0	0	1	0	11	16					T	1857628	C	T	1857628	3	4	435	1	0	0	0	0	1	0	0	0	894	768	27	1	2201	1	ARHGEF10	8	1857628	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	129031	1857628	144506394	3918	24843											
MYOM2	9172	broad.mit.edu	37	chr8	2021562	2021562	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcggcgtcagcgaccacagcGccttcctgtttgtcagaggt	6	9	13	13	4	2	1	2	0	0	1	3	2	3	1	3	2	2	1	3	2	0	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:2021562G>A	ENST00000262113.4	+	10	1243	c.1102G>A	c.(1102-1104)Gcc>Acc	p.A368T	MYOM2_ENST00000523438.1_Intron	NM_003970.2	NP_003961.2	P54296	MYOM2_HUMAN	myomesin 2	368	Ig-like C2-type 2.				muscle contraction (GO:0006936)	M band (GO:0031430)|mitochondrion (GO:0005739)|myosin filament (GO:0032982)	structural constituent of muscle (GO:0008307)			autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		CGACCACAGCGCCTTCCTGTT	0.677																																						ENST00000262113.4																			0				autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104						c.(1102-1104)Gcc>Acc		myomesin 2							40	35	37					8																	2021562		2203	4300	6503	SO:0001583	missense	9172				muscle contraction	myosin filament	structural constituent of muscle	g.chr8:2021562G>A		CCDS5957.1	8p23.3	2014-06-06	2012-10-17		ENSG00000036448	ENSG00000036448		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	7614	protein-coding gene	gene with protein product		603509	"myomesin (M-protein) 2 (165kD)", "myomesin (M-protein) 2, 165kDa"				Standard	XM_006716237		Approved		uc003wpx.4	P54296	OTTHUMG00000129175	ENST00000262113.4:c.1102G>A	8.37:g.2021562G>A	ENSP00000262113:p.Ala368Thr					MYOM2_ENST00000523438.1_Intron	p.A368T	NM_003970.2	NP_003961.2	P54296	MYOM2_HUMAN		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)	10	1243	+		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)	368			Ig-like C2-type 2.		Q7Z3Y2	Missense_Mutation	SNP	ENST00000262113.4	37	c.1102G>A	CCDS5957.1	.	.	.	.	.	.	.	.	.	.	G	27.8	4.866671	0.91511	.	.	ENSG00000036448	ENST00000262113	T	0.70399	-0.48	4.9	4.9	0.64082	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Fibronectin, type III (1);	0.000000	0.85682	D	0.000000	T	0.80297	0.4597	M	0.64997	1.995	0.80722	D	1	D	0.62365	0.991	P	0.61722	0.893	T	0.78303	-0.2256	10	0.30078	T	0.28	.	18.0821	0.89444	0.0:0.0:1.0:0.0	.	368	P54296	MYOM2_HUMAN	T	368	ENSP00000262113:A368T	ENSP00000262113:A368T	A	+	1	0	MYOM2	2008969	1.000000	0.71417	0.992000	0.48379	0.877000	0.50540	9.433000	0.97501	2.237000	0.73441	0.655000	0.94253	GCC		0.677	MYOM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251249.1	NM_003970		16	21	0	0	0	1	0	16	21					A	2021562	G	A	2021562	3	1	435	1	0	0	0	0	1	0	0	0	10092	1087	38	1	1136	1	MYOM2	8	2021562	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	163934	2021562	144342460	3919	24844											
MYOM2	9172	broad.mit.edu	37	chr8	2024280	2024280	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggacttgcagtgccacgacGccaaccgggactacgtcatc	9	7	11	14	4	1	0	1	0	0	0	2	3	1	2	3	2	4	1	3	2	2	2	rs117189614	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:2024280G>A	ENST00000262113.4	+	11	1321	c.1180G>A	c.(1180-1182)Gcc>Acc	p.A394T	MYOM2_ENST00000523438.1_Intron	NM_003970.2	NP_003961.2	P54296	MYOM2_HUMAN	myomesin 2	394	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				muscle contraction (GO:0006936)	M band (GO:0031430)|mitochondrion (GO:0005739)|myosin filament (GO:0032982)	structural constituent of muscle (GO:0008307)			autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		GTGCCACGACGCCAACCGGGA	0.597													G|||	24	0.00479233	0	0.0014	5008	,	,		13903	0.0218		0	False		,,,				2504	0.001					ENST00000262113.4																			0				autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104						c.(1180-1182)Gcc>Acc		myomesin 2		G	THR/ALA	2,4404	4.2+/-10.8	0,2,2201	47	42	44		1180	5.4	0.4	8	dbSNP_132	44	0,8600		0,0,4300	yes	missense	MYOM2	NM_003970.2	58	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	benign	394/1466	2024280	2,13004	2203	4300	6503	SO:0001583	missense	9172				muscle contraction	myosin filament	structural constituent of muscle	g.chr8:2024280G>A		CCDS5957.1	8p23.3	2014-06-06	2012-10-17		ENSG00000036448	ENSG00000036448		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	7614	protein-coding gene	gene with protein product		603509	"myomesin (M-protein) 2 (165kD)", "myomesin (M-protein) 2, 165kDa"				Standard	XM_006716237		Approved		uc003wpx.4	P54296	OTTHUMG00000129175	ENST00000262113.4:c.1180G>A	8.37:g.2024280G>A	ENSP00000262113:p.Ala394Thr					MYOM2_ENST00000523438.1_Intron	p.A394T	NM_003970.2	NP_003961.2	P54296	MYOM2_HUMAN		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)	11	1321	+		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)	394			Fibronectin type-III 1.		Q7Z3Y2	Missense_Mutation	SNP	ENST00000262113.4	37	c.1180G>A	CCDS5957.1	17	0.007783882783882784	0	0.0	1	0.0027624309392265192	16	0.027972027972027972	0	0.0	G	19.28	3.797100	0.70567	4.54E-4	0.0	ENSG00000036448	ENST00000262113	T	0.56611	0.45	5.38	5.38	0.77491	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.135903	0.49916	D	0.000131	T	0.32406	0.0828	L	0.41027	1.25	0.80722	D	1	D	0.56521	0.976	P	0.50896	0.653	T	0.49588	-0.8924	10	0.54805	T	0.06	.	19.1389	0.93439	0.0:0.0:1.0:0.0	.	394	P54296	MYOM2_HUMAN	T	394	ENSP00000262113:A394T	ENSP00000262113:A394T	A	+	1	0	MYOM2	2011687	0.999000	0.42202	0.375000	0.26029	0.359000	0.29487	5.109000	0.64615	2.509000	0.84616	0.655000	0.94253	GCC		0.597	MYOM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251249.1	NM_003970		7	13	0	0	0	1	0	7	13					A	2024280	G	A	2024280	3	1	435	1	0	0	0	0	1	0	0	0	10092	1087	38	1	1218	1	MYOM2	8	2024280	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	2718	2024280	144339742	3920	24845											
MYOM2	9172	broad.mit.edu	37	chr8	2026842	2026842	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtaggaacgaataattgggtGcagtgcaatgatgcaccggt	12	9	14	6	2	0	1	0	1	0	0	0	3	0	2	1	3	4	4	1	3	5	3	rs141170833		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:2026842G>A	ENST00000262113.4	+	12	1431	c.1290G>A	c.(1288-1290)gtG>gtA	p.V430V	MYOM2_ENST00000523438.1_Intron	NM_003970.2	NP_003961.2	P54296	MYOM2_HUMAN	myomesin 2	430	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				muscle contraction (GO:0006936)	M band (GO:0031430)|mitochondrion (GO:0005739)|myosin filament (GO:0032982)	structural constituent of muscle (GO:0008307)			autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		ATAATTGGGTGCAGTGCAATG	0.413																																						ENST00000262113.4																			0				autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104						c.(1288-1290)gtG>gtA		myomesin 2		G		0,4406		0,0,2203	101	112	108		1290	-9.4	0.3	8	dbSNP_134	108	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	MYOM2	NM_003970.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		430/1466	2026842	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	9172				muscle contraction	myosin filament	structural constituent of muscle	g.chr8:2026842G>A		CCDS5957.1	8p23.3	2014-06-06	2012-10-17		ENSG00000036448	ENSG00000036448		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	7614	protein-coding gene	gene with protein product		603509	"myomesin (M-protein) 2 (165kD)", "myomesin (M-protein) 2, 165kDa"				Standard	XM_006716237		Approved		uc003wpx.4	P54296	OTTHUMG00000129175	ENST00000262113.4:c.1290G>A	8.37:g.2026842G>A						MYOM2_ENST00000523438.1_Intron	p.V430V	NM_003970.2	NP_003961.2	P54296	MYOM2_HUMAN		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)	12	1431	+		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)	430			Fibronectin type-III 1.		Q7Z3Y2	Silent	SNP	ENST00000262113.4	37	c.1290G>A	CCDS5957.1																																																																																				0.413	MYOM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251249.1	NM_003970		39	76	0	0	0	1	0	39	76					A	2026842	G	A	2026842	2	1	435	1	0	0	0	0	0	0	0	1	10092	1306	46	3		3	MYOM2	8	2026842	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	2562	2026842	144337180	3921	24846											
MYOM2	9172	broad.mit.edu	37	chr8	2048706	2048706	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctgtgaggtcagggacacGtccttggtcatgctgtggaa	7	12	14	8	1	3	1	2	1	1	0	4	3	4	3	1	4	1	1	1	4	1	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:2048706G>A	ENST00000262113.4	+	20	2622	c.2481G>A	c.(2479-2481)acG>acA	p.T827T	MYOM2_ENST00000523438.1_Silent_p.T252T	NM_003970.2	NP_003961.2	P54296	MYOM2_HUMAN	myomesin 2	827	Fibronectin type-III 5. {ECO:0000255|PROSITE-ProRule:PRU00316}.				muscle contraction (GO:0006936)	M band (GO:0031430)|mitochondrion (GO:0005739)|myosin filament (GO:0032982)	structural constituent of muscle (GO:0008307)			autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		TCAGGGACACGTCCTTGGTCA	0.582																																						ENST00000262113.4																			0				autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104						c.(2479-2481)acG>acA		myomesin 2							118	91	100					8																	2048706		2203	4300	6503	SO:0001819	synonymous_variant	9172				muscle contraction	myosin filament	structural constituent of muscle	g.chr8:2048706G>A		CCDS5957.1	8p23.3	2014-06-06	2012-10-17		ENSG00000036448	ENSG00000036448		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	7614	protein-coding gene	gene with protein product		603509	"myomesin (M-protein) 2 (165kD)", "myomesin (M-protein) 2, 165kDa"				Standard	XM_006716237		Approved		uc003wpx.4	P54296	OTTHUMG00000129175	ENST00000262113.4:c.2481G>A	8.37:g.2048706G>A						MYOM2_ENST00000523438.1_Silent_p.T252T	p.T827T	NM_003970.2	NP_003961.2	P54296	MYOM2_HUMAN		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)	20	2622	+		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)	827			Fibronectin type-III 5.		Q7Z3Y2	Silent	SNP	ENST00000262113.4	37	c.2481G>A	CCDS5957.1																																																																																				0.582	MYOM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251249.1	NM_003970		11	17	0	0	0	1	0	11	17					A	2048706	G	A	2048706	2	1	435	1	0	0	0	0	0	0	0	1	10092	1132	40	1		1	MYOM2	8	2048706	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	21864	2048706	144315316	3922	24847											
MYOM2	9172	broad.mit.edu	37	chr8	2057240	2057240	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttttgataaggggcgggttcGcttctggctccaggctgagc	5	12	15	9	2	1	2	0	2	1	0	3	2	2	2	1	5	1	4	1	5	1	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:2057240G>A	ENST00000262113.4	+	25	3239	c.3098G>A	c.(3097-3099)cGc>cAc	p.R1033H	MYOM2_ENST00000523438.1_Missense_Mutation_p.R458H	NM_003970.2	NP_003961.2	P54296	MYOM2_HUMAN	myomesin 2	1033					muscle contraction (GO:0006936)	M band (GO:0031430)|mitochondrion (GO:0005739)|myosin filament (GO:0032982)	structural constituent of muscle (GO:0008307)	p.R1033H(1)		autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		GGGCGGGTTCGCTTCTGGCTC	0.443																																						ENST00000262113.4																			1	Substitution - Missense(1)	p.R1033H(1)	lung(1)	autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104						c.(3097-3099)cGc>cAc		myomesin 2							81	79	80					8																	2057240		2203	4300	6503	SO:0001583	missense	9172				muscle contraction	myosin filament	structural constituent of muscle	g.chr8:2057240G>A		CCDS5957.1	8p23.3	2014-06-06	2012-10-17		ENSG00000036448	ENSG00000036448		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	7614	protein-coding gene	gene with protein product		603509	"myomesin (M-protein) 2 (165kD)", "myomesin (M-protein) 2, 165kDa"				Standard	XM_006716237		Approved		uc003wpx.4	P54296	OTTHUMG00000129175	ENST00000262113.4:c.3098G>A	8.37:g.2057240G>A	ENSP00000262113:p.Arg1033His					MYOM2_ENST00000523438.1_Missense_Mutation_p.R458H	p.R1033H	NM_003970.2	NP_003961.2	P54296	MYOM2_HUMAN		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)	25	3239	+		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)	1033					Q7Z3Y2	Missense_Mutation	SNP	ENST00000262113.4	37	c.3098G>A	CCDS5957.1	.	.	.	.	.	.	.	.	.	.	g	34	5.353441	0.95830	.	.	ENSG00000036448	ENST00000262113;ENST00000523438	T;T	0.44083	0.93;0.93	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	T	0.69314	0.3097	M	0.81497	2.545	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	T	0.72007	-0.4420	10	0.87932	D	0	.	20.0285	0.97531	0.0:0.0:1.0:0.0	.	1033	P54296	MYOM2_HUMAN	H	1033;458	ENSP00000262113:R1033H;ENSP00000428396:R458H	ENSP00000262113:R1033H	R	+	2	0	MYOM2	2044647	1.000000	0.71417	0.998000	0.56505	0.994000	0.84299	9.512000	0.98008	2.727000	0.93392	0.645000	0.84053	CGC		0.443	MYOM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251249.1	NM_003970		36	33	0	0	0	1	0	36	33					A	2057240	G	A	2057240	3	1	435	1	0	0	0	0	1	0	0	0	10092	1087	38	1	3192	1	MYOM2	8	2057240	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	8534	2057240	144306782	3923	24848											
CSMD1	64478	broad.mit.edu	37	chr8	2830794	2830794	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acccatgtgctggggtccccGgatcaccacagaatccagga	10	6	11	14	1	1	1	1	0	0	1	3	3	3	3	5	4	1	1	5	4	1	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:2830794G>A	ENST00000520002.1	-	58	9326	c.8771C>T	c.(8770-8772)cCg>cTg	p.P2924L	CSMD1_ENST00000602557.1_Missense_Mutation_p.P2924L|CSMD1_ENST00000400186.3_Missense_Mutation_p.P2866L|CSMD1_ENST00000537824.1_Missense_Mutation_p.P2923L|CSMD1_ENST00000602723.1_Missense_Mutation_p.P2866L|CSMD1_ENST00000542608.1_Missense_Mutation_p.P2865L			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	2924	Sushi 22. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		TGGGGTCCCCGGATCACCACA	0.473																																						ENST00000520002.1																			0				breast(20)|large_intestine(5)	25						c.(8770-8772)cCg>cTg		CUB and Sushi multiple domains 1							163	162	162					8																	2830794		1867	4122	5989	SO:0001583	missense	64478					integral to membrane		g.chr8:2830794G>A			8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	14026	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 24"	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.8771C>T	8.37:g.2830794G>A	ENSP00000430733:p.Pro2924Leu					CSMD1_ENST00000400186.3_Missense_Mutation_p.P2866L|CSMD1_ENST00000602723.1_Missense_Mutation_p.P2866L|CSMD1_ENST00000602557.1_Missense_Mutation_p.P2924L|CSMD1_ENST00000537824.1_Missense_Mutation_p.P2923L|CSMD1_ENST00000542608.1_Missense_Mutation_p.P2865L	p.P2924L			Q96PZ7	CSMD1_HUMAN		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)	58	9326	-		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)	2924			Sushi 22.		Q0H0J5|Q96QU9|Q96RM4	Missense_Mutation	SNP	ENST00000520002.1	37	c.8771C>T		.	.	.	.	.	.	.	.	.	.	G	17.16	3.319572	0.60524	.	.	ENSG00000183117	ENST00000400186;ENST00000520002;ENST00000318252;ENST00000537824;ENST00000542608	D;D;D;D	0.84223	-1.82;-1.82;-1.82;-1.82	5.21	5.21	0.72293	Complement control module (2);Sushi/SCR/CCP (3);	0.000000	0.85682	D	0.000000	D	0.89832	0.6829	L	0.56396	1.775	0.80722	D	1	P;D;D	0.56287	0.916;0.975;0.961	B;P;P	0.58130	0.387;0.833;0.66	D	0.90896	0.4765	10	0.87932	D	0	.	18.7778	0.91918	0.0:0.0:1.0:0.0	.	2924;2924;2865	E5RIG2;Q96PZ7;F5H2I8	.;CSMD1_HUMAN;.	L	2866;2924;2785;2923;2865	ENSP00000383047:P2866L;ENSP00000430733:P2924L;ENSP00000441462:P2923L;ENSP00000446243:P2865L	ENSP00000320445:P2785L	P	-	2	0	CSMD1	2818201	1.000000	0.71417	0.510000	0.27712	0.045000	0.14185	9.394000	0.97261	2.423000	0.82170	0.655000	0.94253	CCG		0.473	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000374500.2	NM_033225		37	62	0	0	0	1	0	37	62					A	2830794	G	A	2830794	3	1	435	1	0	0	0	0	1	0	0	0	3944	1116	39	2	1982	2	CSMD1	8	2830794	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	773554	2830794	143533228	3924	24849											
AGPAT5	55326	broad.mit.edu	37	chr8	6605240	6605240	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccacgaataaaggcaactcaCgttgcttttgattgcatgaa	13	11	8	9	2	1	2	1	2	0	0	1	3	1	2	1	1	3	4	1	1	5	5	rs539082371		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:6605240C>T	ENST00000285518.6	+	6	948	c.636C>T	c.(634-636)caC>caT	p.H212H	AGPAT5_ENST00000530716.1_3'UTR|MIR4659B_ENST00000580269.1_RNA	NM_018361.3	NP_060831.2	Q9NUQ2	PLCE_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 5	212					CDP-diacylglycerol biosynthetic process (GO:0016024)|cellular lipid metabolic process (GO:0044255)|glycerophospholipid biosynthetic process (GO:0046474)|hematopoietic progenitor cell differentiation (GO:0002244)|phosphatidic acid biosynthetic process (GO:0006654)|phospholipid biosynthetic process (GO:0008654)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	1-acylglycerol-3-phosphate O-acyltransferase activity (GO:0003841)		AGPAT5/MCPH1(2)	endometrium(2)|kidney(2)|large_intestine(4)|lung(3)	11			STAD - Stomach adenocarcinoma(24;0.0578)	READ - Rectum adenocarcinoma(644;0.156)|COAD - Colon adenocarcinoma(149;0.191)		AGGCAACTCACGTTGCTTTTG	0.403																																						ENST00000285518.6																		AGPAT5/MCPH1(2)	0				endometrium(2)|kidney(2)|large_intestine(4)|lung(3)	11						c.(634-636)caC>caT		1-acylglycerol-3-phosphate O-acyltransferase 5							117	113	114					8																	6605240		2203	4300	6503	SO:0001819	synonymous_variant	55326				phospholipid biosynthetic process	integral to membrane|mitochondrion	1-acylglycerol-3-phosphate O-acyltransferase activity	g.chr8:6605240C>T	AF375789	CCDS34796.1	8p23.1	2013-02-05	2013-02-05		ENSG00000155189	ENSG00000155189	2.3.1.51	"1-acylglycerol-3-phosphate O-acyltransferases"	20886	protein-coding gene	gene with protein product	"lysophosphatidic acid acyltransferase, epsilon"	614796	"1-acylglycerol-3-phosphate O-acyltransferase 5 (lysophosphatidic acid acyltransferase, epsilon)"				Standard	NM_018361		Approved	FLJ11210, LPAAT-e, LPAAT-epsilon	uc003wqo.3	Q9NUQ2	OTTHUMG00000163656	ENST00000285518.6:c.636C>T	8.37:g.6605240C>T						AGPAT5_ENST00000530716.1_3'UTR	p.H212H	NM_018361.3	NP_060831.2	Q9NUQ2	PLCE_HUMAN	STAD - Stomach adenocarcinoma(24;0.0578)	READ - Rectum adenocarcinoma(644;0.156)|COAD - Colon adenocarcinoma(149;0.191)	6	948	+			212					Q8IZ47|Q9BQG4	Silent	SNP	ENST00000285518.6	37	c.636C>T	CCDS34796.1																																																																																				0.403	AGPAT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374684.1	NM_018361		23	42	0	0	0	1	0	23	42					T	6605240	C	T	6605240	2	4	435	1	0	0	0	0	0	0	0	1	390	535	19	1		1	AGPAT5	8	6605240	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	3774446	6605240	139758782	3925	24850											
DEFA4	1669	broad.mit.edu	37	chr8	6794283	6794283	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agcagagcttttatcccatgCaaaggaaatagatatgtcct	14	11	8	8	0	0	2	0	0	0	2	2	3	2	3	2	1	3	3	2	1	5	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:6794283C>T	ENST00000297435.2	-	2	263	c.139G>A	c.(139-141)Gca>Aca	p.A47T		NM_001925.1	NP_001916.1	P12838	DEF4_HUMAN	defensin, alpha 4, corticostatin	47					antibacterial humoral response (GO:0019731)|defense response to fungus (GO:0050832)|innate immune response (GO:0045087)|killing of cells of other organism (GO:0031640)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)				endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|skin(1)	10				COAD - Colon adenocarcinoma(149;0.0572)|READ - Rectum adenocarcinoma(644;0.121)		TTATCCCATGCAAAGGAAATA	0.557																																						ENST00000297435.2																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|skin(1)	10						c.(139-141)Gca>Aca		defensin, alpha 4, corticostatin							90	88	89					8																	6794283		2203	4300	6503	SO:0001583	missense	1669				defense response to bacterium|defense response to fungus|killing of cells of other organism	extracellular space		g.chr8:6794283C>T	X65977	CCDS5961.1	8p23.1	2007-02-20			ENSG00000164821	ENSG00000164821		"Defensins, alpha"	2763	protein-coding gene	gene with protein product		601157		DEF4		8469233	Standard	NM_001925		Approved	HP-4	uc003wqu.1	P12838	OTTHUMG00000090382	ENST00000297435.2:c.139G>A	8.37:g.6794283C>T	ENSP00000297435:p.Ala47Thr						p.A47T	NM_001925.1	NP_001916.1	P12838	DEF4_HUMAN		COAD - Colon adenocarcinoma(149;0.0572)|READ - Rectum adenocarcinoma(644;0.121)	2	263	-			47					Q6EZF8	Missense_Mutation	SNP	ENST00000297435.2	37	c.139G>A	CCDS5961.1	.	.	.	.	.	.	.	.	.	.	.	10.64	1.405785	0.25378	.	.	ENSG00000164821	ENST00000297435	T	0.30448	1.53	1.66	-3.33	0.04958	Defensin propeptide (1);	2.192100	0.02443	N	0.084740	T	0.32285	0.0824	.	.	.	0.09310	N	1	P	0.47034	0.889	P	0.50896	0.653	T	0.21381	-1.0247	9	0.38643	T	0.18	.	2.9331	0.05805	0.2025:0.3283:0.0:0.4692	.	47	P12838	DEF4_HUMAN	T	47	ENSP00000297435:A47T	ENSP00000297435:A47T	A	-	1	0	DEFA4	6781693	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.399000	0.07250	-1.316000	0.02295	-1.142000	0.01873	GCA		0.557	DEFA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206754.1	NM_001925		11	38	0	0	0	1	0	11	38					T	6794283	C	T	6794283	3	4	435	1	0	0	0	0	1	0	0	0	4391	710	25	3	162	3	DEFA4	8	6794283	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	189043	6794283	139569739	3926	24851											
SGK223	157285	broad.mit.edu	37	chr8	8175899	8175899	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgctgcaccagctcgcgcCgaggcccccacagcaggcac	7	3	12	19	3	0	0	0	0	0	0	1	1	0	0	4	2	4	6	4	2	0	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:8175899C>T	ENST00000520004.1	-	6	4250	c.3986G>A	c.(3985-3987)cGg>cAg	p.R1329Q	SGK223_ENST00000330777.4_Missense_Mutation_p.R1329Q			Q86YV5	SG223_HUMAN		1333	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.						ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)										CAGCTCGCGCCGAGGCCCCCA	0.657																																					GBM(34;731 755 10259 33573 33867)	ENST00000520004.1																			0											c.(3985-3987)cGg>cAg									46	50	48					8																	8175899		2020	4170	6190	SO:0001583	missense	0						ATP binding|non-membrane spanning protein tyrosine kinase activity	g.chr8:8175899C>T																												ENST00000520004.1:c.3986G>A	8.37:g.8175899C>T	ENSP00000428054:p.Arg1329Gln					SGK223_ENST00000330777.4_Missense_Mutation_p.R1329Q	p.R1329Q			Q86YV5	SG223_HUMAN			6	4250	-			1329					Q8N3N5	Missense_Mutation	SNP	ENST00000520004.1	37	c.3986G>A	CCDS43706.1	.	.	.	.	.	.	.	.	.	.	C	33	5.252610	0.95336	.	.	ENSG00000182319	ENST00000330777;ENST00000520004	T;T	0.13307	2.6;2.6	4.86	4.86	0.63082	Protein kinase-like domain (1);	0.000000	0.85682	D	0.000000	T	0.34337	0.0894	L	0.52905	1.665	0.58432	D	0.999996	D	0.89917	1.0	D	0.87578	0.998	T	0.02942	-1.1091	10	0.87932	D	0	.	17.5329	0.87819	0.0:1.0:0.0:0.0	.	1329	Q86YV5	SG223_HUMAN	Q	1329	ENSP00000330930:R1329Q;ENSP00000428054:R1329Q	ENSP00000330930:R1329Q	R	-	2	0	AC068353.1	8213309	1.000000	0.71417	1.000000	0.80357	0.809000	0.45718	7.792000	0.85828	2.701000	0.92244	0.462000	0.41574	CGG		0.657	SGK223-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374864.1			23	43	0	0	0	1	0	23	43					T	8175899	C	T	8175899	3	4	435	1	0	0	0	0	1	0	0	0	14210	652	23	2	226	2	SGK223	8	8175899	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	1381616	8175899	138188123	3927	24852											
SGK223	157285	broad.mit.edu	37	chr8	8175954	8175954	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggcctcgccgatgcggatacGcttgatggggtcggcctcca	5	8	15	13	5	0	1	0	1	0	0	3	3	1	2	4	5	2	1	4	5	1	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:8175954G>A	ENST00000520004.1	-	6	4195	c.3931C>T	c.(3931-3933)Cgt>Tgt	p.R1311C	SGK223_ENST00000330777.4_Missense_Mutation_p.R1311C			Q86YV5	SG223_HUMAN		1315	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.						ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)										ATGCGGATACGCTTGATGGGG	0.711																																					GBM(34;731 755 10259 33573 33867)	ENST00000520004.1																			0											c.(3931-3933)Cgt>Tgt									21	25	23					8																	8175954		2040	4175	6215	SO:0001583	missense	0						ATP binding|non-membrane spanning protein tyrosine kinase activity	g.chr8:8175954G>A																												ENST00000520004.1:c.3931C>T	8.37:g.8175954G>A	ENSP00000428054:p.Arg1311Cys					SGK223_ENST00000330777.4_Missense_Mutation_p.R1311C	p.R1311C			Q86YV5	SG223_HUMAN			6	4195	-			1311		R -> H.	Protein kinase.		Q8N3N5	Missense_Mutation	SNP	ENST00000520004.1	37	c.3931C>T	CCDS43706.1	.	.	.	.	.	.	.	.	.	.	G	27.7	4.855557	0.91355	.	.	ENSG00000182319	ENST00000330777;ENST00000520004	D;D	0.94650	-3.48;-3.48	4.86	4.86	0.63082	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.98286	0.9432	H	0.96943	3.91	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99320	1.0906	10	0.87932	D	0	.	17.5329	0.87819	0.0:0.0:1.0:0.0	.	1311	Q86YV5	SG223_HUMAN	C	1311	ENSP00000330930:R1311C;ENSP00000428054:R1311C	ENSP00000330930:R1311C	R	-	1	0	AC068353.1	8213364	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	5.415000	0.66411	2.701000	0.92244	0.462000	0.41574	CGT		0.711	SGK223-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374864.1			21	20	0	0	0	1	0	21	20					A	8175954	G	A	8175954	3	1	435	1	0	0	0	0	1	0	0	0	14210	1087	38	1	281	1	SGK223	8	8175954	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	55	8175954	138188068	3928	24853											
MFHAS1	9258	broad.mit.edu	37	chr8	8747722	8747722	+	Silent	SNP	T	T	C																															catgcggtccatatatttggTaatgatgcatggctagcaat																										TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:8747722T>C	ENST00000276282.6	-	1	3433	c.2847A>G	c.(2845-2847)ttA>ttG	p.L949L		NM_004225.2	NP_004216.2	Q9Y4C4	MFHA1_HUMAN	malignant fibrous histiocytoma amplified sequence 1	949										endometrium(1)|kidney(3)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|stomach(1)	21		Hepatocellular(245;0.217)		COAD - Colon adenocarcinoma(149;0.124)		ATATATTTGGTAATGATGCAT	0.517																																					Melanoma(103;1201 2045 17515 28966)	ENST00000276282.6																			0				endometrium(1)|kidney(3)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|stomach(1)	21						c.(2845-2847)ttA>ttG		malignant fibrous histiocytoma amplified sequence 1							100	96	97					8																	8747722		2203	4300	6503	SO:0001819	synonymous_variant	9258							g.chr8:8747722T>C	AB016816	CCDS34844.1	8p23.1	2014-03-07			ENSG00000147324	ENSG00000147324			16982	protein-coding gene	gene with protein product	"leucine rich repeat containing 65", "malignant fibrous histiocytoma-amplified sequences with leucine-rich tandem repeats 1"	605352				9973190	Standard	NM_004225		Approved	MASL1, LRRC65	uc003wsj.1	Q9Y4C4	OTTHUMG00000163676	ENST00000276282.6:c.2847A>G	8.37:g.8747722T>C							p.L949L	NM_004225.2	NP_004216.2	Q9Y4C4	MFHA1_HUMAN		COAD - Colon adenocarcinoma(149;0.124)	1	3433	-		Hepatocellular(245;0.217)	949					Q96CI0	Silent	SNP	ENST00000276282.6	37	c.2847A>G	CCDS34844.1																																																																																				0.517	MFHAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374724.2	NM_004225		11	53	0	0	0	1	0	11	53					C	8747722	T	C	8747722	2	2	435	1	0	0	0	0	0	0	0	1	9521	1635	57	4		4	MFHAS1	8	8747722	Silent	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	571768	8747722	137616300	3929	24854	116	2									
MFHAS1	9258	broad.mit.edu	37	chr8	8747729	8747729	+	Missense_Mutation	SNP	G	G	A																															tccatatatttggtaatgatGcatggctagcaatggacagg																										TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:8747729G>A	ENST00000276282.6	-	1	3426	c.2840C>T	c.(2839-2841)gCa>gTa	p.A947V		NM_004225.2	NP_004216.2	Q9Y4C4	MFHA1_HUMAN	malignant fibrous histiocytoma amplified sequence 1	947										endometrium(1)|kidney(3)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|stomach(1)	21		Hepatocellular(245;0.217)		COAD - Colon adenocarcinoma(149;0.124)		TGGTAATGATGCATGGCTAGC	0.512																																					Melanoma(103;1201 2045 17515 28966)	ENST00000276282.6																			0				endometrium(1)|kidney(3)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|stomach(1)	21						c.(2839-2841)gCa>gTa		malignant fibrous histiocytoma amplified sequence 1							103	99	101					8																	8747729		2203	4300	6503	SO:0001583	missense	9258							g.chr8:8747729G>A	AB016816	CCDS34844.1	8p23.1	2014-03-07			ENSG00000147324	ENSG00000147324			16982	protein-coding gene	gene with protein product	"leucine rich repeat containing 65", "malignant fibrous histiocytoma-amplified sequences with leucine-rich tandem repeats 1"	605352				9973190	Standard	NM_004225		Approved	MASL1, LRRC65	uc003wsj.1	Q9Y4C4	OTTHUMG00000163676	ENST00000276282.6:c.2840C>T	8.37:g.8747729G>A	ENSP00000276282:p.Ala947Val						p.A947V	NM_004225.2	NP_004216.2	Q9Y4C4	MFHA1_HUMAN		COAD - Colon adenocarcinoma(149;0.124)	1	3426	-		Hepatocellular(245;0.217)	947					Q96CI0	Missense_Mutation	SNP	ENST00000276282.6	37	c.2840C>T	CCDS34844.1	.	.	.	.	.	.	.	.	.	.	G	19.68	3.873685	0.72180	.	.	ENSG00000147324	ENST00000276282	T	0.35973	1.28	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	T	0.52581	0.1743	L	0.51422	1.61	0.80722	D	1	D	0.76494	0.999	D	0.63283	0.913	T	0.29458	-1.0011	10	0.25751	T	0.34	.	19.0006	0.92832	0.0:0.0:1.0:0.0	.	947	Q9Y4C4	MFHA1_HUMAN	V	947	ENSP00000276282:A947V	ENSP00000276282:A947V	A	-	2	0	MFHAS1	8785139	1.000000	0.71417	0.931000	0.37212	0.255000	0.26057	9.377000	0.97184	2.749000	0.94314	0.655000	0.94253	GCA		0.512	MFHAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374724.2	NM_004225		26	42	0	0	0	1	0	26	42					A	8747729	G	A	8747729	3	1	435	1	0	0	0	0	1	0	0	0	9521	1319	46	3	330	3	MFHAS1	8	8747729	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	7	8747729	137616293	3930	24855	116	2									
TNKS	8658	broad.mit.edu	37	chr8	9413926	9413926	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agccccgaggcggccggagtTagcagcacagcaccactggg	9	3	15	14	3	0	0	0	0	0	0	0	2	0	1	4	4	4	4	4	4	1	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:9413926T>C	ENST00000310430.6	+	1	503	c.477T>C	c.(475-477)gtT>gtC	p.V159V	TNKS_ENST00000520408.1_Silent_p.V159V|TNKS_ENST00000522110.1_Silent_p.V159V|RP11-375N15.2_ENST00000607598.1_RNA	NM_003747.2	NP_003738.2	O95271	TNKS1_HUMAN	tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase	159					mitotic nuclear division (GO:0007067)|mitotic spindle organization (GO:0007052)|mRNA transport (GO:0051028)|negative regulation of DNA binding (GO:0043392)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of telomere maintenance via telomerase (GO:0032212)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein ADP-ribosylation (GO:0006471)|protein auto-ADP-ribosylation (GO:0070213)|protein localization to chromosome, telomeric region (GO:0070198)|protein poly-ADP-ribosylation (GO:0070212)|protein polyubiquitination (GO:0000209)|protein transport (GO:0015031)|regulation of telomere maintenance via telomerase (GO:0032210)|spindle assembly (GO:0051225)|Wnt signaling pathway (GO:0016055)	chromosome, centromeric region (GO:0000775)|chromosome, telomeric region (GO:0000781)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nuclear chromosome, telomeric region (GO:0000784)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleus (GO:0005634)|pericentriolar material (GO:0000242)	NAD+ ADP-ribosyltransferase activity (GO:0003950)|zinc ion binding (GO:0008270)			NS(1)|endometrium(10)|kidney(6)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	49				COAD - Colon adenocarcinoma(149;0.0467)		CGGCCGGAGTTAGCAGCACAG	0.647																																						ENST00000310430.6																			0				NS(1)|endometrium(10)|kidney(6)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	49						c.(475-477)gtT>gtC		tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase							69	73	72					8																	9413926		2203	4300	6503	SO:0001819	synonymous_variant	8658				mitotic spindle organization|mRNA transport|negative regulation of DNA binding|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of telomere maintenance via telomerase|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein poly-ADP-ribosylation|protein polyubiquitination|protein transport|spindle assembly|transmembrane transport|Wnt receptor signaling pathway	chromosome, centromeric region|Golgi membrane|microsome|nuclear chromosome, telomeric region|nuclear membrane|nuclear pore|pericentriolar material	NAD+ ADP-ribosyltransferase activity|protein binding|zinc ion binding	g.chr8:9413926T>C	AF082556	CCDS5974.1	8p23.1	2013-01-10			ENSG00000173273	ENSG00000173273		"Poly (ADP-ribose) polymerases", "Sterile alpha motif (SAM) domain containing", "Ankyrin repeat domain containing"	11941	protein-coding gene	gene with protein product		603303				9822378, 10198177	Standard	XM_006716263		Approved	TIN1, TINF1, TNKS1, PARP-5a, PARP5A, pART5	uc003wss.3	O95271	OTTHUMG00000090481	ENST00000310430.6:c.477T>C	8.37:g.9413926T>C						TNKS_ENST00000522110.1_Silent_p.V159V|RP11-375N15.2_ENST00000607598.1_RNA|TNKS_ENST00000520408.1_Silent_p.V159V	p.V159V	NM_003747.2	NP_003738.2	O95271	TNKS1_HUMAN		COAD - Colon adenocarcinoma(149;0.0467)	1	503	+			159					O95272|Q4G0F2	Silent	SNP	ENST00000310430.6	37	c.477T>C	CCDS5974.1																																																																																				0.647	TNKS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206935.1	NM_003747		22	38	0	0	0	1	0	22	38					C	9413926	T	C	9413926	2	2	435	1	0	0	0	0	0	0	0	1	16316	1741	61	4		4	TNKS	8	9413926	Silent	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	666197	9413926	136950096	3931	24856											
TNKS	8658	broad.mit.edu	37	chr8	9588532	9588532	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accacggtgccgatgtccatGccaaagacaaggggtacgtg	11	6	13	11	3	0	1	0	0	0	1	1	2	1	1	4	3	3	1	4	3	3	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:9588532G>A	ENST00000310430.6	+	14	2160	c.2134G>A	c.(2134-2136)Gcc>Acc	p.A712T	TNKS_ENST00000518281.1_Missense_Mutation_p.A475T	NM_003747.2	NP_003738.2	O95271	TNKS1_HUMAN	tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase	712					mitotic nuclear division (GO:0007067)|mitotic spindle organization (GO:0007052)|mRNA transport (GO:0051028)|negative regulation of DNA binding (GO:0043392)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of telomere maintenance via telomerase (GO:0032212)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein ADP-ribosylation (GO:0006471)|protein auto-ADP-ribosylation (GO:0070213)|protein localization to chromosome, telomeric region (GO:0070198)|protein poly-ADP-ribosylation (GO:0070212)|protein polyubiquitination (GO:0000209)|protein transport (GO:0015031)|regulation of telomere maintenance via telomerase (GO:0032210)|spindle assembly (GO:0051225)|Wnt signaling pathway (GO:0016055)	chromosome, centromeric region (GO:0000775)|chromosome, telomeric region (GO:0000781)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nuclear chromosome, telomeric region (GO:0000784)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleus (GO:0005634)|pericentriolar material (GO:0000242)	NAD+ ADP-ribosyltransferase activity (GO:0003950)|zinc ion binding (GO:0008270)			NS(1)|endometrium(10)|kidney(6)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	49				COAD - Colon adenocarcinoma(149;0.0467)		CGATGTCCATGCCAAAGACAA	0.448																																						ENST00000310430.6																			0				NS(1)|endometrium(10)|kidney(6)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	49						c.(2134-2136)Gcc>Acc		tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase							91	77	82					8																	9588532		2203	4300	6503	SO:0001583	missense	8658				mitotic spindle organization|mRNA transport|negative regulation of DNA binding|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of telomere maintenance via telomerase|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein poly-ADP-ribosylation|protein polyubiquitination|protein transport|spindle assembly|transmembrane transport|Wnt receptor signaling pathway	chromosome, centromeric region|Golgi membrane|microsome|nuclear chromosome, telomeric region|nuclear membrane|nuclear pore|pericentriolar material	NAD+ ADP-ribosyltransferase activity|protein binding|zinc ion binding	g.chr8:9588532G>A	AF082556	CCDS5974.1	8p23.1	2013-01-10			ENSG00000173273	ENSG00000173273		"Poly (ADP-ribose) polymerases", "Sterile alpha motif (SAM) domain containing", "Ankyrin repeat domain containing"	11941	protein-coding gene	gene with protein product		603303				9822378, 10198177	Standard	XM_006716263		Approved	TIN1, TINF1, TNKS1, PARP-5a, PARP5A, pART5	uc003wss.3	O95271	OTTHUMG00000090481	ENST00000310430.6:c.2134G>A	8.37:g.9588532G>A	ENSP00000311579:p.Ala712Thr					TNKS_ENST00000518281.1_Missense_Mutation_p.A475T	p.A712T	NM_003747.2	NP_003738.2	O95271	TNKS1_HUMAN		COAD - Colon adenocarcinoma(149;0.0467)	14	2160	+			712					O95272|Q4G0F2	Missense_Mutation	SNP	ENST00000310430.6	37	c.2134G>A	CCDS5974.1	.	.	.	.	.	.	.	.	.	.	G	36	5.858935	0.97036	.	.	ENSG00000173273	ENST00000310430;ENST00000518281	T;T	0.66995	-0.24;-0.24	5.76	5.76	0.90799	Ankyrin repeat-containing domain (3);	0.000000	0.85682	D	0.000000	T	0.80803	0.4693	L	0.58428	1.81	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.80668	-0.1280	10	0.62326	D	0.03	.	19.9738	0.97296	0.0:0.0:1.0:0.0	.	712	O95271	TNKS1_HUMAN	T	712;475	ENSP00000311579:A712T;ENSP00000429890:A475T	ENSP00000311579:A712T	A	+	1	0	TNKS	9625942	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.732000	0.93576	0.655000	0.94253	GCC		0.448	TNKS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206935.1	NM_003747		19	27	0	0	0	1	0	19	27					A	9588532	G	A	9588532	3	1	435	1	0	0	0	0	1	0	0	0	16316	1319	46	3	2188	3	TNKS	8	9588532	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	174606	9588532	136775490	3932	24857											
RP1L1	94137	broad.mit.edu	37	chr8	10469158	10469158	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcttcggtgggggcccaccGccccttgctcaggccgtcca	3	7	14	17	3	1	0	1	0	0	0	3	0	2	0	6	5	1	2	6	5	0	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:10469158G>A	ENST00000382483.3	-	4	2673	c.2450C>T	c.(2449-2451)gCg>gTg	p.A817V		NM_178857.5	NP_849188.4	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	817					cell projection organization (GO:0030030)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|visual perception (GO:0007601)	axoneme (GO:0005930)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|photoreceptor connecting cilium (GO:0032391)|photoreceptor outer segment (GO:0001750)				breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		GGGGCCCACCGCCCCTTGCTC	0.692																																						ENST00000382483.3																			0				breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148						c.(2449-2451)gCg>gTg		retinitis pigmentosa 1-like 1							22	27	25					8																	10469158		1962	4120	6082	SO:0001583	missense	94137				intracellular signal transduction			g.chr8:10469158G>A	AY168346	CCDS43708.1	8p23.1	2011-12-06			ENSG00000183638	ENSG00000183638			15946	protein-coding gene	gene with protein product		608581				12634863	Standard	NM_178857		Approved	DCDC4B	uc003wtc.3	Q8IWN7	OTTHUMG00000163806	ENST00000382483.3:c.2450C>T	8.37:g.10469158G>A	ENSP00000371923:p.Ala817Val						p.A817V	NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN		COAD - Colon adenocarcinoma(149;0.0811)	4	2673	-			817					Q86SQ1|Q8IWN8|Q8IWN9|Q8IWP0|Q8IWP1|Q8IWP2	Missense_Mutation	SNP	ENST00000382483.3	37	c.2450C>T	CCDS43708.1	.	.	.	.	.	.	.	.	.	.	G	11.19	1.566198	0.27915	.	.	ENSG00000183638	ENST00000382483	T	0.04234	3.67	4.68	-3.14	0.05250	.	1.634080	0.04346	N	0.354782	T	0.02156	0.0067	N	0.14661	0.345	0.09310	N	1	B	0.34349	0.45	B	0.18561	0.022	T	0.38607	-0.9653	10	0.34782	T	0.22	0.0881	0.8985	0.01269	0.3156:0.106:0.318:0.2604	.	817	A6NKC6	.	V	817	ENSP00000371923:A817V	ENSP00000371923:A817V	A	-	2	0	RP1L1	10506568	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.075000	0.11431	-0.447000	0.07138	-0.521000	0.04368	GCG		0.692	RP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375673.1			6	16	0	0	0	1	0	6	16					A	10469158	G	A	10469158	3	1	435	1	0	0	0	0	1	0	0	0	13533	1087	38	1	4756	1	RP1L1	8	10469158	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	880626	10469158	135894864	3933	24858											
MTMR9	66036	broad.mit.edu	37	chr8	11163708	11163708	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tatgcttctaggtaattatgCgaagtggtcagccactcact	10	13	9	9	1	3	0	2	0	1	0	3	1	3	0	1	2	3	2	1	2	5	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:11163708C>T	ENST00000221086.3	+	5	1074	c.601C>T	c.(601-603)Cga>Tga	p.R201*	MTMR9_ENST00000526292.1_Nonsense_Mutation_p.R116*	NM_015458.3	NP_056273.2	Q96QG7	MTMR9_HUMAN	myotubularin related protein 9	201	Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}.					cytoplasm (GO:0005737)	enzyme regulator activity (GO:0030234)|phosphatase activity (GO:0016791)			cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|urinary_tract(2)	16			STAD - Stomach adenocarcinoma(15;0.215)	COAD - Colon adenocarcinoma(149;0.0678)		GGTAATTATGCGAAGTGGTCA	0.418																																						ENST00000221086.3																			0				cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|urinary_tract(2)	16						c.(601-603)Cga>Tga		myotubularin related protein 9							63	58	60					8																	11163708		2203	4300	6503	SO:0001587	stop_gained	66036					cytoplasm	phosphatase activity|protein binding	g.chr8:11163708C>T	AJ297823	CCDS5979.1	8p23-p22	2011-06-09	2002-09-05	2002-09-06	ENSG00000104643	ENSG00000104643		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"	14596	protein-coding gene	gene with protein product		606260	"myotubularin related protein 8"	C8orf9, MTMR8		11472061, 11896452, 12890864	Standard	NM_015458		Approved	DKFZp434K171, LIP-STYX	uc003wtm.3	Q96QG7	OTTHUMG00000090647	ENST00000221086.3:c.601C>T	8.37:g.11163708C>T	ENSP00000221086:p.Arg201*					MTMR9_ENST00000526292.1_Nonsense_Mutation_p.R116*	p.R201*	NM_015458.3	NP_056273.2	Q96QG7	MTMR9_HUMAN	STAD - Stomach adenocarcinoma(15;0.215)	COAD - Colon adenocarcinoma(149;0.0678)	5	1074	+			201			Myotubularin phosphatase.		B7Z291|Q52LU3|Q8WW11|Q96QG6|Q9NX50	Nonsense_Mutation	SNP	ENST00000221086.3	37	c.601C>T	CCDS5979.1	.	.	.	.	.	.	.	.	.	.	C	39	7.878624	0.98539	.	.	ENSG00000104643	ENST00000221086;ENST00000526292	.	.	.	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.9437	0.71014	0.1432:0.8568:0.0:0.0	.	.	.	.	X	201;116	.	ENSP00000221086:R201X	R	+	1	2	MTMR9	11201118	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	5.958000	0.70330	2.600000	0.87896	0.563000	0.77884	CGA		0.418	MTMR9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207307.2	NM_015458		5	18	0	0	0	1	0	5	18					T	11163708	C	T	11163708	4	4	435	1	0	0	0	0	0	1	0	0	9950	760	27	1	619	1	MTMR9	8	11163708	Nonsense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	694550	11163708	135200314	3934	24859											
GATA4	2626	broad.mit.edu	37	chr8	11614576	11614576	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtcatctcactacgggcacaGcagctccgtgtcccaggtac	8	8	10	15	2	2	0	2	0	1	0	5	0	4	0	2	2	4	4	2	2	2	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:11614576G>T	ENST00000335135.4	+	6	1688	c.1130G>T	c.(1129-1131)aGc>aTc	p.S377I	GATA4_ENST00000528712.1_Missense_Mutation_p.S171I|GATA4_ENST00000532059.1_Missense_Mutation_p.S378I	NM_002052.3	NP_002043.2	P43694	GATA4_HUMAN	GATA binding protein 4	377			S -> G (in dbSNP:rs3729856).		atrial septum morphogenesis (GO:0060413)|atrial septum primum morphogenesis (GO:0003289)|atrial septum secundum morphogenesis (GO:0003290)|atrioventricular valve morphogenesis (GO:0003181)|blood coagulation (GO:0007596)|BMP signaling pathway (GO:0030509)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle hypertrophy in response to stress (GO:0014898)|cardiac right ventricle morphogenesis (GO:0003215)|cardiac ventricle morphogenesis (GO:0003208)|cell growth involved in cardiac muscle cell development (GO:0061049)|cell-cell signaling (GO:0007267)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to glucose stimulus (GO:0071333)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic foregut morphogenesis (GO:0048617)|embryonic heart tube anterior/posterior pattern specification (GO:0035054)|endocardial cushion development (GO:0003197)|endoderm development (GO:0007492)|endoderm formation (GO:0001706)|epithelial cell fate commitment (GO:0072148)|gastrulation with mouth forming second (GO:0001702)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|intestinal epithelial cell differentiation (GO:0060575)|lung lobe formation (GO:0060464)|male gonad development (GO:0008584)|negative regulation of autophagy (GO:0010507)|positive regulation of angiogenesis (GO:0045766)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cardioblast differentiation (GO:0051891)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of transcription, DNA-templated (GO:0006355)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to mechanical stimulus (GO:0009612)|seminiferous tubule development (GO:0072520)|Sertoli cell differentiation (GO:0060008)|signal transduction involved in regulation of gene expression (GO:0023019)|SMAD protein signal transduction (GO:0060395)|spermatogenesis (GO:0007283)|transcription from RNA polymerase II promoter (GO:0006366)|ventricular cardiac muscle tissue development (GO:0003229)|ventricular septum development (GO:0003281)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	activating transcription factor binding (GO:0033613)|chromatin binding (GO:0003682)|co-SMAD binding (GO:0070410)|DNA binding (GO:0003677)|enhancer sequence-specific DNA binding (GO:0001158)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(10)	13	all_epithelial(15;0.0839)		STAD - Stomach adenocarcinoma(15;0.00225)	COAD - Colon adenocarcinoma(149;0.199)		TACGGGCACAGCAGCTCCGTG	0.652																																						ENST00000335135.4																			0				central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(10)	13						c.(1129-1131)aGc>aTc		GATA binding protein 4							77	59	65					8																	11614576		2203	4300	6503	SO:0001583	missense	2626				atrial septum primum morphogenesis|atrial septum secundum morphogenesis|blood coagulation|cardiac right ventricle morphogenesis|cell-cell signaling|embryonic foregut morphogenesis|embryonic heart tube anterior/posterior pattern formation|endocardial cushion development|endoderm development|heart looping|intestinal epithelial cell differentiation|male gonad development|positive regulation of angiogenesis|positive regulation of cardioblast differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation vascular endothelial growth factor production|response to drug|transcription from RNA polymerase II promoter|ventricular septum development	nucleoplasm	activating transcription factor binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding	g.chr8:11614576G>T	AK097060	CCDS5983.1	8p23.1-p22	2013-01-25	2001-11-28		ENSG00000136574	ENSG00000136574		"GATA zinc finger domain containing"	4173	protein-coding gene	gene with protein product		600576	"GATA-binding protein 4"			7665171	Standard	NM_002052		Approved		uc003wuc.2	P43694	OTTHUMG00000090800	ENST00000335135.4:c.1130G>T	8.37:g.11614576G>T	ENSP00000334458:p.Ser377Ile					GATA4_ENST00000528712.1_Missense_Mutation_p.S171I|GATA4_ENST00000532059.1_Missense_Mutation_p.S378I	p.S377I	NM_002052.3	NP_002043.2	P43694	GATA4_HUMAN	STAD - Stomach adenocarcinoma(15;0.00225)	COAD - Colon adenocarcinoma(149;0.199)	6	1688	+	all_epithelial(15;0.0839)		377		S -> G (in dbSNP:rs3729856).			B7ZKX0|B7ZKZ4|Q3MJ45|Q5IFM8	Missense_Mutation	SNP	ENST00000335135.4	37	c.1130G>T	CCDS5983.1	.	.	.	.	.	.	.	.	.	.	G	13.83	2.355486	0.41700	.	.	ENSG00000136574	ENST00000528712;ENST00000526716;ENST00000335135;ENST00000259090;ENST00000532059	D;D;D;D	0.99014	-5.33;-5.11;-4.72;-4.72	5.83	4.96	0.65561	.	0.470389	0.23169	N	0.051149	D	0.97489	0.9178	L	0.53249	1.67	0.40147	D	0.976905	B;B	0.20671	0.047;0.047	B;B	0.17979	0.02;0.02	D	0.96753	0.9555	10	0.42905	T	0.14	-21.9862	12.9941	0.58635	0.0:0.5232:0.4768:0.0	.	378;377	B7ZKZ4;P43694	.;GATA4_HUMAN	I	171;171;377;376;378	ENSP00000435043:S171I;ENSP00000435347:S171I;ENSP00000334458:S377I;ENSP00000435712:S378I	ENSP00000259090:S376I	S	+	2	0	GATA4	11651985	0.977000	0.34250	0.999000	0.59377	0.601000	0.36947	2.483000	0.45233	1.455000	0.47813	0.655000	0.94253	AGC		0.652	GATA4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000207587.2	NM_002052		20	24	1	0	3.51602e-12	1	3.7986e-12	20	24					T	11614576	G	T	11614576	3	4	435	1	0	0	0	0	1	0	0	0	6256	971	34	5	1148	5	GATA4	8	11614576	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	450868	11614576	134749446	3935	24860											
LONRF1	91694	broad.mit.edu	37	chr8	12594257	12594257	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagacatcgattaattcttcTggaatatcaccataagctaa	15	12	6	8	1	3	1	1	0	2	1	4	4	3	2	1	1	1	1	1	1	5	6			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:12594257T>C	ENST00000398246.3	-	6	1473	c.1404A>G	c.(1402-1404)ccA>ccG	p.P468P	LONRF1_ENST00000530693.1_5'Flank|LONRF1_ENST00000533751.1_Silent_p.P111P	NM_152271.3	NP_689484.3	Q17RB8	LONF1_HUMAN	LON peptidase N-terminal domain and ring finger 1	468							ATP-dependent peptidase activity (GO:0004176)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)|upper_aerodigestive_tract(2)	19				READ - Rectum adenocarcinoma(644;0.236)		TTAATTCTTCTGGAATATCAC	0.313																																						ENST00000398246.3																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)|upper_aerodigestive_tract(2)	19						c.(1402-1404)ccA>ccG		LON peptidase N-terminal domain and ring finger 1							80	75	77					8																	12594257		1816	4069	5885	SO:0001819	synonymous_variant	91694				proteolysis		ATP-dependent peptidase activity|zinc ion binding	g.chr8:12594257T>C	AK074329	CCDS5987.2	8p23.1	2013-01-09			ENSG00000154359	ENSG00000154359		"RING-type (C3HC4) zinc fingers"	26302	protein-coding gene	gene with protein product						18253036	Standard	XM_005273685		Approved	FLJ23749, RNF191	uc003wwd.1	Q17RB8	OTTHUMG00000165475	ENST00000398246.3:c.1404A>G	8.37:g.12594257T>C						LONRF1_ENST00000533751.1_Silent_p.P111P	p.P468P	NM_152271.3	NP_689484.3	Q17RB8	LONF1_HUMAN		READ - Rectum adenocarcinoma(644;0.236)	6	1473	-			468					B4DM29|B4DU84|Q8TEA0|Q9BSV1	Silent	SNP	ENST00000398246.3	37	c.1404A>G	CCDS5987.2																																																																																				0.313	LONRF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251693.2	NM_152271		46	60	0	0	0	1	0	46	60					C	12594257	T	C	12594257	2	2	435	1	0	0	0	0	0	0	0	1	8894	1567	55	4		4	LONRF1	8	12594257	Silent	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	979681	12594257	133769765	3936	24861											
DLC1	10395	broad.mit.edu	37	chr8	12950183	12950183	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agggaaggcgctaagcacacGgccaggttggttggggtcat	9	7	17	8	2	1	0	1	0	0	0	1	1	1	1	1	7	1	4	1	7	2	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:12950183G>A	ENST00000276297.4	-	13	4087	c.3678C>T	c.(3676-3678)gcC>gcT	p.A1226A	DLC1_ENST00000510318.1_5'UTR|DLC1_ENST00000520226.1_Silent_p.A715A|DLC1_ENST00000358919.2_Silent_p.A789A|DLC1_ENST00000512044.2_Silent_p.A823A	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN	DLC1 Rho GTPase activating protein	1226	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				actin cytoskeleton organization (GO:0030036)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|focal adhesion assembly (GO:0048041)|forebrain development (GO:0030900)|heart morphogenesis (GO:0003007)|hindbrain morphogenesis (GO:0021575)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of stress fiber assembly (GO:0051497)|neural tube closure (GO:0001843)|positive regulation of execution phase of apoptosis (GO:1900119)|positive regulation of protein dephosphorylation (GO:0035307)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	lipid binding (GO:0008289)|Rho GTPase activator activity (GO:0005100)|SH2 domain binding (GO:0042169)			NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						CTAAGCACACGGCCAGGTTGG	0.562																																						ENST00000276297.4																			0				NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						c.(3676-3678)gcC>gcT		deleted in liver cancer 1							139	121	127					8																	12950183		2203	4300	6503	SO:0001819	synonymous_variant	10395				actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding	g.chr8:12950183G>A	AF035119	CCDS5989.1, CCDS5990.1, CCDS5991.1, CCDS5991.2, CCDS55201.1	8p22	2014-06-20	2014-06-20		ENSG00000164741	ENSG00000164741		"Rho GTPase activating proteins", "StAR-related lipid transfer (START) domain containing"	2897	protein-coding gene	gene with protein product	"StAR-related lipid transfer (START) domain containing 12"	604258	"deleted in liver cancer 1"			9605766, 11214970	Standard	NM_182643		Approved	HP, ARHGAP7, STARD12, DLC-1, p122-RhoGAP	uc003wwm.2	Q96QB1	OTTHUMG00000090825	ENST00000276297.4:c.3678C>T	8.37:g.12950183G>A						DLC1_ENST00000512044.2_Silent_p.A823A|DLC1_ENST00000520226.1_Silent_p.A715A|DLC1_ENST00000510318.1_5'UTR|DLC1_ENST00000358919.2_Silent_p.A789A	p.A1226A	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN			13	4087	-			1226			Rho-GAP.		B4DR10|B8PTI0|E9PDZ8|E9PF76|E9PGY9|O14868|O43199|Q7Z5R8|Q86UC6|Q9C0E0|Q9H7A2	Silent	SNP	ENST00000276297.4	37	c.3678C>T	CCDS5989.1																																																																																				0.562	DLC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207632.2	NM_182643, NM_006094		8	18	0	0	0	1	0	8	18					A	12950183	G	A	12950183	2	1	435	1	0	0	0	0	0	0	0	1	4550	1103	39	2		2	DLC1	8	12950183	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	355926	12950183	133413839	3937	24862											
DLC1	10395	broad.mit.edu	37	chr8	12957581	12957581	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcctcgtaacagggctgggCgtgctgaccgcgctgctggt	4	9	16	12	4	0	1	0	1	0	0	2	1	1	1	2	3	3	5	2	3	1	1	rs138749997	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:12957581C>T	ENST00000276297.4	-	9	2674	c.2265G>A	c.(2263-2265)acG>acA	p.T755T	DLC1_ENST00000520226.1_Silent_p.T244T|DLC1_ENST00000358919.2_Silent_p.T318T|DLC1_ENST00000512044.2_Silent_p.T352T	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN	DLC1 Rho GTPase activating protein	755	Focal adhesion-targeting (FAT).				actin cytoskeleton organization (GO:0030036)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|focal adhesion assembly (GO:0048041)|forebrain development (GO:0030900)|heart morphogenesis (GO:0003007)|hindbrain morphogenesis (GO:0021575)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of stress fiber assembly (GO:0051497)|neural tube closure (GO:0001843)|positive regulation of execution phase of apoptosis (GO:1900119)|positive regulation of protein dephosphorylation (GO:0035307)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	lipid binding (GO:0008289)|Rho GTPase activator activity (GO:0005100)|SH2 domain binding (GO:0042169)			NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						CAGGGCTGGGCGTGCTGACCG	0.582																																						ENST00000276297.4																			0				NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						c.(2263-2265)acG>acA		deleted in liver cancer 1							55	49	51					8																	12957581		2203	4300	6503	SO:0001819	synonymous_variant	10395				actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding	g.chr8:12957581C>T	AF035119	CCDS5989.1, CCDS5990.1, CCDS5991.1, CCDS5991.2, CCDS55201.1	8p22	2014-06-20	2014-06-20		ENSG00000164741	ENSG00000164741		"Rho GTPase activating proteins", "StAR-related lipid transfer (START) domain containing"	2897	protein-coding gene	gene with protein product	"StAR-related lipid transfer (START) domain containing 12"	604258	"deleted in liver cancer 1"			9605766, 11214970	Standard	NM_182643		Approved	HP, ARHGAP7, STARD12, DLC-1, p122-RhoGAP	uc003wwm.2	Q96QB1	OTTHUMG00000090825	ENST00000276297.4:c.2265G>A	8.37:g.12957581C>T						DLC1_ENST00000512044.2_Silent_p.T352T|DLC1_ENST00000520226.1_Silent_p.T244T|DLC1_ENST00000358919.2_Silent_p.T318T	p.T755T	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN			9	2674	-			755					B4DR10|B8PTI0|E9PDZ8|E9PF76|E9PGY9|O14868|O43199|Q7Z5R8|Q86UC6|Q9C0E0|Q9H7A2	Silent	SNP	ENST00000276297.4	37	c.2265G>A	CCDS5989.1																																																																																				0.582	DLC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207632.2	NM_182643, NM_006094		8	28	0	0	0	1	0	8	28					T	12957581	C	T	12957581	2	4	435	1	0	0	0	0	0	0	0	1	4550	755	27	1		1	DLC1	8	12957581	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	7398	12957581	133406441	3938	24863											
DLC1	10395	broad.mit.edu	37	chr8	13356887	13356887	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aggtttccttcgttgctgagCaattacagcagagttaagca	11	12	10	8	1	0	2	0	1	0	1	2	2	1	2	1	1	5	7	1	1	3	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:13356887C>T	ENST00000276297.4	-	2	1103	c.694G>A	c.(694-696)Gct>Act	p.A232T	DLC1_ENST00000511869.1_Missense_Mutation_p.A232T|DLC1_ENST00000316609.5_Missense_Mutation_p.A232T	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN	DLC1 Rho GTPase activating protein	232					actin cytoskeleton organization (GO:0030036)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|focal adhesion assembly (GO:0048041)|forebrain development (GO:0030900)|heart morphogenesis (GO:0003007)|hindbrain morphogenesis (GO:0021575)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of stress fiber assembly (GO:0051497)|neural tube closure (GO:0001843)|positive regulation of execution phase of apoptosis (GO:1900119)|positive regulation of protein dephosphorylation (GO:0035307)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	lipid binding (GO:0008289)|Rho GTPase activator activity (GO:0005100)|SH2 domain binding (GO:0042169)			NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						CGTTGCTGAGCAATTACAGCA	0.393																																						ENST00000276297.4																			0				NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						c.(694-696)Gct>Act		deleted in liver cancer 1							155	154	154					8																	13356887		2203	4300	6503	SO:0001583	missense	10395				actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding	g.chr8:13356887C>T	AF035119	CCDS5989.1, CCDS5990.1, CCDS5991.1, CCDS5991.2, CCDS55201.1	8p22	2014-06-20	2014-06-20		ENSG00000164741	ENSG00000164741		"Rho GTPase activating proteins", "StAR-related lipid transfer (START) domain containing"	2897	protein-coding gene	gene with protein product	"StAR-related lipid transfer (START) domain containing 12"	604258	"deleted in liver cancer 1"			9605766, 11214970	Standard	NM_182643		Approved	HP, ARHGAP7, STARD12, DLC-1, p122-RhoGAP	uc003wwm.2	Q96QB1	OTTHUMG00000090825	ENST00000276297.4:c.694G>A	8.37:g.13356887C>T	ENSP00000276297:p.Ala232Thr					DLC1_ENST00000316609.5_Missense_Mutation_p.A232T|DLC1_ENST00000511869.1_Missense_Mutation_p.A232T	p.A232T	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN			2	1103	-			232					B4DR10|B8PTI0|E9PDZ8|E9PF76|E9PGY9|O14868|O43199|Q7Z5R8|Q86UC6|Q9C0E0|Q9H7A2	Missense_Mutation	SNP	ENST00000276297.4	37	c.694G>A	CCDS5989.1	.	.	.	.	.	.	.	.	.	.	C	14.77	2.633447	0.47049	.	.	ENSG00000164741	ENST00000276297;ENST00000316609;ENST00000511869	T;T;T	0.20332	3.07;2.08;2.11	4.84	3.94	0.45596	.	0.000000	0.38381	N	0.001719	T	0.23330	0.0564	L	0.27053	0.805	0.27494	N	0.952185	P;D;B	0.55605	0.873;0.972;0.006	B;P;B	0.51806	0.403;0.68;0.008	T	0.04347	-1.0958	10	0.42905	T	0.14	.	13.9491	0.64104	0.0:0.9255:0.0:0.0745	.	232;232;232	E9PF76;Q96QB1-3;Q96QB1	.;.;RHG07_HUMAN	T	232	ENSP00000276297:A232T;ENSP00000321034:A232T;ENSP00000425878:A232T	ENSP00000276297:A232T	A	-	1	0	DLC1	13401258	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	1.985000	0.40668	1.354000	0.45846	0.655000	0.94253	GCT		0.393	DLC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207632.2	NM_182643, NM_006094		62	115	0	0	0	1	0	62	115					T	13356887	C	T	13356887	3	4	435	1	0	0	0	0	1	0	0	0	4550	710	25	3	4045	3	DLC1	8	13356887	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	399306	13356887	133007135	3939	24864											
FGF20	26281	broad.mit.edu	37	chr8	16850729	16850729	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	taagtgccacaaaatacctgCggccagtgtctccatgttta	11	11	8	11	1	1	0	0	0	1	0	2	0	1	0	4	1	3	1	4	1	5	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:16850729C>T	ENST00000180166.5	-	3	636	c.488G>A	c.(487-489)cGc>cAc	p.R163H		NM_019851.2	NP_062825.1	Q9NP95	FGF20_HUMAN	fibroblast growth factor 20	163					cell-cell signaling (GO:0007267)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inner ear receptor cell differentiation (GO:0060113)|insulin receptor signaling pathway (GO:0008286)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|regulation of cardiac muscle cell proliferation (GO:0060043)|signal transduction (GO:0007165)	extracellular region (GO:0005576)				haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)|skin(1)	11				Colorectal(111;0.0511)|COAD - Colon adenocarcinoma(73;0.207)		AAAATACCTGCGGCCAGTGTC	0.428																																						ENST00000180166.5																			0				haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)|skin(1)	11						c.(487-489)cGc>cAc		fibroblast growth factor 20							161	149	153					8																	16850729		2203	4300	6503	SO:0001583	missense	26281				cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway	extracellular region|soluble fraction	growth factor activity	g.chr8:16850729C>T	AB030648	CCDS5998.1	8p22	2008-05-15			ENSG00000078579	ENSG00000078579			3677	protein-coding gene	gene with protein product		605558				10913340	Standard	NM_019851		Approved		uc003wxc.1	Q9NP95	OTTHUMG00000096964	ENST00000180166.5:c.488G>A	8.37:g.16850729C>T	ENSP00000180166:p.Arg163His						p.R163H	NM_019851.2	NP_062825.1	Q9NP95	FGF20_HUMAN		Colorectal(111;0.0511)|COAD - Colon adenocarcinoma(73;0.207)	3	636	-			163					B2RPH5	Missense_Mutation	SNP	ENST00000180166.5	37	c.488G>A	CCDS5998.1	.	.	.	.	.	.	.	.	.	.	C	23.9	4.475694	0.84640	.	.	ENSG00000078579	ENST00000180166	D	0.83163	-1.69	5.85	5.85	0.93711	.	0.232724	0.43919	D	0.000513	D	0.85788	0.5778	M	0.84683	2.71	0.44880	D	0.997897	P	0.48350	0.909	B	0.39027	0.288	D	0.88467	0.3059	10	0.87932	D	0	.	20.5471	0.99284	0.0:1.0:0.0:0.0	.	163	Q9NP95	FGF20_HUMAN	H	163	ENSP00000180166:R163H	ENSP00000180166:R163H	R	-	2	0	FGF20	16895100	0.989000	0.36119	0.999000	0.59377	0.998000	0.95712	6.374000	0.73132	2.941000	0.99782	0.655000	0.94253	CGC		0.428	FGF20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214030.1			8	160	0	0	0	1	0	8	160					T	16850729	C	T	16850729	3	4	435	1	0	0	0	0	1	0	0	0	5849	768	27	1	151	1	FGF20	8	16850729	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	3493842	16850729	129513293	3940	24865											
ZDHHC2	51201	broad.mit.edu	37	chr8	17055160	17055160	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcactgctccgtctgtgataAgtaagagaacctttaacttc	11	13	7	10	1	2	2	1	1	1	1	4	3	3	2	2	0	3	2	2	0	4	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:17055160A>G	ENST00000262096.8	+	5	1138	c.443A>G	c.(442-444)aAa>aGa	p.K148R		NM_016353.4	NP_057437.1	Q9UIJ5	ZDHC2_HUMAN	zinc finger, DHHC-type containing 2	148					protein palmitoylation (GO:0018345)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|recycling endosome membrane (GO:0055038)	palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|large_intestine(3)|lung(1)|pancreas(1)|stomach(1)	8				Colorectal(111;0.0697)|COAD - Colon adenocarcinoma(73;0.244)		GTCTGTGATAAGTAAGAGAAC	0.388																																						ENST00000262096.8																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(1)|pancreas(1)|stomach(1)	8						c.e5+1		zinc finger, DHHC-type containing 2							130	128	128					8																	17055160		1904	4134	6038	SO:0001630	splice_region_variant	51201					integral to membrane	acyltransferase activity|zinc ion binding	g.chr8:17055160A>G	AB023584	CCDS47810.1	8p22	2008-05-15			ENSG00000104219	ENSG00000104219		"Zinc fingers, DHHC-type"	18469	protein-coding gene	gene with protein product						10918388	Standard	NM_016353		Approved	ZNF372	uc003wxe.3	Q9UIJ5	OTTHUMG00000163860	ENST00000262096.8:c.443+1A>G	8.37:g.17055160A>G							p.K148_splice	NM_016353.4	NP_057437.1	Q9UIJ5	ZDHC2_HUMAN		Colorectal(111;0.0697)|COAD - Colon adenocarcinoma(73;0.244)	5	1138	+			148					D3DSP5	Splice_Site	SNP	ENST00000262096.8	37	c.443_splice	CCDS47810.1	.	.	.	.	.	.	.	.	.	.	A	8.511	0.866604	0.17250	.	.	ENSG00000104219	ENST00000262096;ENST00000522184	T;T	0.24908	1.83;1.83	4.3	4.3	0.51218	Zinc finger, DHHC-type, palmitoyltransferase (2);	0.355612	0.29892	N	0.010922	T	0.12390	0.0301	N	0.04320	-0.23	0.42132	D	0.991479	P	0.37914	0.611	B	0.37731	0.257	T	0.18587	-1.0332	10	0.14252	T	0.57	.	13.9188	0.63919	1.0:0.0:0.0:0.0	.	148	Q9UIJ5	ZDHC2_HUMAN	R	148;103	ENSP00000262096:K148R;ENSP00000430317:K103R	ENSP00000262096:K148R	K	+	2	0	ZDHHC2	17099531	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	3.067000	0.50010	1.948000	0.56530	0.377000	0.23210	AAA		0.388	ZDHHC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376014.2	NM_016353	Missense_Mutation	28	47	0	0	0	1	0	28	47					G	17055160	A	G	17055160	5	3	435	1	0	0	0	0	0	0	1	0	17607	86	3	4	461	4	ZDHHC2	8	17055160	Splice_Site	SNP	A	TCGA-XK-AAIW-01A-11D-A41K-08	204431	17055160	129308862	3941	24866											
SLC7A2	6542	broad.mit.edu	37	chr8	17418039	17418039	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgagctttctggtaggattcCtaggtaagtcttcttctctg	6	17	10	8	0	4	1	0	1	4	0	6	2	5	2	1	3	1	3	1	3	3	7			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:17418039C>A	ENST00000494857.1	+	10	1719	c.1501C>A	c.(1501-1503)Cta>Ata	p.L501I	SLC7A2_ENST00000470360.1_Missense_Mutation_p.L540I|SLC7A2_ENST00000004531.10_Missense_Mutation_p.L541I|SLC7A2_ENST00000522656.1_Missense_Mutation_p.L501I|SLC7A2_ENST00000398090.3_Missense_Mutation_p.L540I	NM_001008539.3	NP_001008539.3	P52569	CTR2_HUMAN	solute carrier family 7 (cationic amino acid transporter, y+ system), member 2	501					amino acid transport (GO:0006865)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|macrophage activation (GO:0042116)|nitric oxide biosynthetic process (GO:0006809)|nitric oxide production involved in inflammatory response (GO:0002537)|regulation of inflammatory response (GO:0050727)|regulation of macrophage activation (GO:0043030)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	basic amino acid transmembrane transporter activity (GO:0015174)|high-affinity arginine transmembrane transporter activity (GO:0005289)|L-lysine transmembrane transporter activity (GO:0015189)|L-ornithine transmembrane transporter activity (GO:0000064)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|stomach(1)	25				Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216)	L-Lysine(DB00123)|L-Ornithine(DB00129)	GGTAGGATTCCTAGGTAAGTC	0.507																																						ENST00000470360.1																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|stomach(1)	25						c.(1618-1620)Cta>Ata		solute carrier family 7 (cationic amino acid transporter, y+ system), member 2	L-Lysine(DB00123)|L-Ornithine(DB00129)						132	115	121					8																	17418039		2203	4300	6503	SO:0001583	missense	6542				cellular amino acid metabolic process|ion transport	cytoplasm|integral to plasma membrane|membrane fraction	basic amino acid transmembrane transporter activity	g.chr8:17418039C>A	D29990	CCDS6002.2, CCDS34852.1, CCDS55203.1	8p22	2013-05-22			ENSG00000003989	ENSG00000003989		"Solute carriers"	11060	protein-coding gene	gene with protein product		601872		ATRC2		8954799	Standard	NM_001164771		Approved	CAT-2, HCAT2	uc011kye.2	P52569	OTTHUMG00000130819	ENST00000494857.1:c.1501C>A	8.37:g.17418039C>A	ENSP00000419140:p.Leu501Ile					SLC7A2_ENST00000004531.10_Missense_Mutation_p.L541I|SLC7A2_ENST00000522656.1_Missense_Mutation_p.L501I|SLC7A2_ENST00000398090.3_Missense_Mutation_p.L540I|SLC7A2_ENST00000494857.1_Missense_Mutation_p.L501I	p.L540I			P52569	CTR2_HUMAN		Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216)	11	1735	+			501					B7ZL54|O15291|O15292|Q14CQ6|Q6NSZ7|Q86TC6	Missense_Mutation	SNP	ENST00000494857.1	37	c.1618C>A	CCDS34852.1	.	.	.	.	.	.	.	.	.	.	C	11.97	1.796938	0.31777	.	.	ENSG00000003989	ENST00000494857;ENST00000522656;ENST00000470360;ENST00000004531;ENST00000398090	D;D;D;D;D	0.89196	-2.32;-2.32;-2.48;-2.33;-2.48	5.27	5.27	0.74061	.	0.331055	0.33235	N	0.005124	D	0.85566	0.5726	L	0.54323	1.7	0.46542	D	0.999096	B;B;B	0.33755	0.424;0.016;0.017	B;B;B	0.34093	0.175;0.051;0.02	T	0.83304	-0.0026	10	0.33940	T	0.23	.	12.2107	0.54377	0.0:0.8761:0.0:0.1239	.	541;540;501	P52569-3;P52569-2;P52569	.;.;CTR2_HUMAN	I	501;501;540;541;540	ENSP00000419140:L501I;ENSP00000430464:L501I;ENSP00000419873:L540I;ENSP00000004531:L541I;ENSP00000381164:L540I	ENSP00000004531:L541I	L	+	1	2	SLC7A2	17462331	0.989000	0.36119	0.998000	0.56505	0.666000	0.39218	1.870000	0.39529	2.629000	0.89072	0.655000	0.94253	CTA		0.507	SLC7A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253367.3	NM_003046		9	54	1	0	1.12685e-05	1	1.16601e-05	9	54					A	17418039	C	A	17418039	3	1	435	1	0	0	0	0	1	0	0	0	14697	680	24	5	1796	5	SLC7A2	8	17418039	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	362879	17418039	128945983	3942	24867											
SLC18A1	6570	broad.mit.edu	37	chr8	20036993	20036993	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	taggaaggtgggcacaattgGcactgaaagtcaaagaggac	15	6	14	6	0	1	2	1	1	0	1	1	4	1	4	0	5	0	2	0	5	5	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:20036993G>A	ENST00000276373.5	-	3	393	c.127C>T	c.(127-129)Cca>Tca	p.P43S	SLC18A1_ENST00000437980.1_Missense_Mutation_p.P43S|SLC18A1_ENST00000265808.7_Missense_Mutation_p.P43S|SLC18A1_ENST00000440926.1_Missense_Mutation_p.P43S|SLC18A1_ENST00000519026.1_Missense_Mutation_p.P43S|SLC18A1_ENST00000381608.4_Missense_Mutation_p.P43S	NM_003053.3	NP_003044.1	P54219	VMAT1_HUMAN	solute carrier family 18 (vesicular monoamine transporter), member 1	43					monoamine transport (GO:0015844)|neurotransmitter transport (GO:0006836)|transmembrane transport (GO:0055085)	clathrin-sculpted monoamine transport vesicle membrane (GO:0070083)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	drug transmembrane transporter activity (GO:0015238)|monoamine transmembrane transporter activity (GO:0008504)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	29				Colorectal(74;0.0747)	Ephedra(DB01363)|Methamphetamine(DB01577)|Norepinephrine(DB00368)|Reserpine(DB00206)	GGCACAATTGGCACTGAAAGT	0.507																																						ENST00000440926.1																			0				central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	29						c.(127-129)Cca>Tca		solute carrier family 18 (vesicular monoamine transporter), member 1							81	78	79					8																	20036993		2203	4300	6503	SO:0001583	missense	6570				neurotransmitter transport	clathrin sculpted monoamine transport vesicle membrane|integral to membrane|membrane fraction	drug transmembrane transporter activity|monoamine transmembrane transporter activity	g.chr8:20036993G>A		CCDS6013.1, CCDS47814.1, CCDS47815.1	8p21.3	2013-07-18	2013-07-18		ENSG00000036565	ENSG00000036565		"Solute carriers"	10934	protein-coding gene	gene with protein product		193002		VMAT1, VAT1			Standard	NM_003053		Approved	CGAT	uc003wzm.3	P54219	OTTHUMG00000097017	ENST00000276373.5:c.127C>T	8.37:g.20036993G>A	ENSP00000276373:p.Pro43Ser					SLC18A1_ENST00000519026.1_Missense_Mutation_p.P43S|SLC18A1_ENST00000437980.1_Missense_Mutation_p.P43S|SLC18A1_ENST00000381608.4_Missense_Mutation_p.P43S|SLC18A1_ENST00000276373.5_Missense_Mutation_p.P43S|SLC18A1_ENST00000265808.7_Missense_Mutation_p.P43S	p.P43S	NM_001135691.2	NP_001129163.1	P54219	VMAT1_HUMAN		Colorectal(74;0.0747)	4	597	-			43					E9PDJ5|Q9BRE4	Missense_Mutation	SNP	ENST00000276373.5	37	c.127C>T	CCDS6013.1	.	.	.	.	.	.	.	.	.	.	G	18.49	3.635735	0.67130	.	.	ENSG00000036565	ENST00000265808;ENST00000276373;ENST00000440926;ENST00000437980;ENST00000519026;ENST00000381608;ENST00000522513	D;D;D;D;D;D;D	0.82711	-1.64;-1.64;-1.64;-1.64;-1.64;-1.64;-1.64	5.95	5.95	0.96441	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.049611	0.85682	D	0.000000	D	0.93409	0.7898	M	0.92077	3.27	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.97110	0.964;1.0;0.999	D	0.94293	0.7530	10	0.87932	D	0	-22.6049	17.887	0.88858	0.0:0.0:1.0:0.0	.	43;43;43	E9PB33;E9PDJ5;P54219	.;.;VMAT1_HUMAN	S	43	ENSP00000265808:P43S;ENSP00000276373:P43S;ENSP00000387549:P43S;ENSP00000413361:P43S;ENSP00000429664:P43S;ENSP00000371021:P43S;ENSP00000428999:P43S	ENSP00000265808:P43S	P	-	1	0	SLC18A1	20081273	1.000000	0.71417	1.000000	0.80357	0.065000	0.16274	8.632000	0.90995	2.824000	0.97209	0.655000	0.94253	CCA		0.507	SLC18A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214106.1			19	26	0	0	0	1	0	19	26					A	20036993	G	A	20036993	3	1	435	1	0	0	0	0	1	0	0	0	14425	1203	42	3	1506	3	SLC18A1	8	20036993	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	2618954	20036993	126327029	3943	24868											
XPO7	23039	broad.mit.edu	37	chr8	21860776	21860776	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	catctttgaagactgtaggaAccagtggtctatgtcccgac	10	11	10	10	1	2	2	0	1	2	1	3	4	3	3	2	2	1	1	2	2	4	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:21860776A>G	ENST00000252512.9	+	26	3090	c.2990A>G	c.(2989-2991)aAc>aGc	p.N997S	XPO7_ENST00000433566.4_Missense_Mutation_p.N998S|XPO7_ENST00000434536.1_Missense_Mutation_p.N1006S	NM_015024.4	NP_055839.3	Q9UIA9	XPO7_HUMAN	exportin 7	997					mRNA transport (GO:0051028)|protein export from nucleus (GO:0006611)	cytoplasm (GO:0005737)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	nuclear export signal receptor activity (GO:0005049)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(2)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				Colorectal(74;0.0187)|COAD - Colon adenocarcinoma(73;0.0724)		GACTGTAGGAACCAGTGGTCT	0.478																																						ENST00000434536.1																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(2)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(3016-3018)aAc>aGc		exportin 7							106	99	101					8																	21860776		1940	4153	6093	SO:0001583	missense	23039				mRNA transport|protein export from nucleus|transmembrane transport	cytoplasm|nuclear pore	nuclear export signal receptor activity|protein transporter activity	g.chr8:21860776A>G	AF064729	CCDS47818.1	8p21	2011-04-13	2003-03-11	2003-03-14	ENSG00000130227	ENSG00000130227		"Exportins"	14108	protein-coding gene	gene with protein product		606140	"RAN binding protein 16"	RANBP16		11024021, 9872452	Standard	NM_015024		Approved	KIAA0745	uc003xaa.4	Q9UIA9	OTTHUMG00000163789	ENST00000252512.9:c.2990A>G	8.37:g.21860776A>G	ENSP00000252512:p.Asn997Ser					XPO7_ENST00000252512.9_Missense_Mutation_p.N997S|XPO7_ENST00000433566.4_Missense_Mutation_p.N998S	p.N1006S			Q9UIA9	XPO7_HUMAN		Colorectal(74;0.0187)|COAD - Colon adenocarcinoma(73;0.0724)	26	3119	+			997					O94846|Q6PJK9|Q8NEK7	Missense_Mutation	SNP	ENST00000252512.9	37	c.3017A>G	CCDS47818.1	.	.	.	.	.	.	.	.	.	.	A	19.48	3.835739	0.71373	.	.	ENSG00000130227	ENST00000434536;ENST00000252512;ENST00000433566	T;T;T	0.23552	1.9;1.9;1.9	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	T	0.31765	0.0807	M	0.76170	2.325	0.80722	D	1	P;B;B	0.45986	0.87;0.253;0.253	B;B;B	0.43194	0.411;0.102;0.083	T	0.18524	-1.0334	10	0.10377	T	0.69	-19.1249	15.4546	0.75302	1.0:0.0:0.0:0.0	.	998;1006;997	E7ESC6;E9PEN8;Q9UIA9	.;.;XPO7_HUMAN	S	1006;997;998	ENSP00000404853:N1006S;ENSP00000252512:N997S;ENSP00000410249:N998S	ENSP00000252512:N997S	N	+	2	0	XPO7	21916722	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.307000	0.78920	2.137000	0.66172	0.533000	0.62120	AAC		0.478	XPO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375494.1	NM_015024		4	14	0	0	0	1	0	4	14					G	21860776	A	G	21860776	3	3	435	1	0	0	0	0	1	0	0	0	17446	43	2	4	3144	4	XPO7	8	21860776	Missense_Mutation	SNP	A	TCGA-XK-AAIW-01A-11D-A41K-08	1823783	21860776	124503246	3944	24869											
FAM160B2	64760	broad.mit.edu	37	chr8	21960311	21960311	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	catctcccctcaggctggacCaccagaccctcctccagggc	7	6	8	20	0	2	1	1	0	1	1	5	2	4	2	7	3	0	1	7	3	0	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:21960311C>T	ENST00000289921.7	+	17	2147	c.2101C>T	c.(2101-2103)Cac>Tac	p.H701Y		NM_022749.5	NP_073586.5	Q86V87	F16B2_HUMAN	family with sequence similarity 160, member B2	701										endometrium(2)|kidney(1)|lung(2)|prostate(3)|urinary_tract(1)	9						CAGGCTGGACCACCAGACCCT	0.642																																						ENST00000289921.7																			0				endometrium(2)|kidney(1)|lung(2)|prostate(3)|urinary_tract(1)	9						c.(2101-2103)Cac>Tac		family with sequence similarity 160, member B2							63	67	66					8																	21960311		2068	4223	6291	SO:0001583	missense	64760							g.chr8:21960311C>T	AK025454	CCDS6021.2	8p21.3	2012-11-30	2008-06-05	2008-06-05	ENSG00000158863	ENSG00000158863			16492	protein-coding gene	gene with protein product			"retinoic acid induced 16"	RAI16		22971576, 15626329	Standard	XR_247128		Approved	FLJ21801	uc011kyx.2	Q86V87	OTTHUMG00000097088	ENST00000289921.7:c.2101C>T	8.37:g.21960311C>T	ENSP00000289921:p.His701Tyr						p.H701Y	NM_022749.5	NP_073586.5	Q86V87	F16B2_HUMAN			17	2147	+			701					B2RDQ5|B3KNX1|Q2M211|Q71JB5|Q7L3J6|Q969T0|Q9H6W4	Missense_Mutation	SNP	ENST00000289921.7	37	c.2101C>T	CCDS6021.2	.	.	.	.	.	.	.	.	.	.	C	25.4	4.631495	0.87660	.	.	ENSG00000158863	ENST00000289921;ENST00000356512	T	0.48836	0.8	5.32	5.32	0.75619	.	0.000000	0.85682	D	0.000000	T	0.60625	0.2283	M	0.71036	2.16	0.58432	D	0.999993	P	0.50066	0.931	P	0.52031	0.688	T	0.64114	-0.6483	10	0.56958	D	0.05	-25.4679	16.5074	0.84276	0.0:1.0:0.0:0.0	.	701	Q86V87	F16B2_HUMAN	Y	701;119	ENSP00000289921:H701Y	ENSP00000289921:H701Y	H	+	1	0	FAM160B2	22016256	1.000000	0.71417	1.000000	0.80357	0.773000	0.43773	5.966000	0.70395	2.492000	0.84095	0.561000	0.74099	CAC		0.642	FAM160B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375334.2			15	35	0	0	0	1	0	15	35					T	21960311	C	T	21960311	3	4	435	1	0	0	0	0	1	0	0	0	5471	594	21	3	1966	3	FAM160B2	8	21960311	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	99535	21960311	124403711	3945	24870											
HR	55806	broad.mit.edu	37	chr8	21978589	21978589	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctcactcacactgggcagggCcggagtgacgggggcgaagg	8	4	18	11	3	2	1	2	1	0	0	2	3	2	2	1	6	0	1	1	6	1	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:21978589C>T	ENST00000381418.4	-	10	3836	c.2356G>A	c.(2356-2358)Gcc>Acc	p.A786T	HR_ENST00000312841.8_Missense_Mutation_p.A786T	NM_005144.4	NP_005135.2	O43593	HAIR_HUMAN	hair growth associated	786					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nuclear body (GO:0016604)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|oxidoreductase activity (GO:0016491)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	27		Breast(100;0.000162)|Acute lymphoblastic leukemia(644;0.0775)|Prostate(55;0.116)		KIRC - Kidney renal clear cell carcinoma(542;1.19e-05)|BRCA - Breast invasive adenocarcinoma(99;3.56e-05)|Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1)		CTGGGCAGGGCCGGAGTGACG	0.662																																						ENST00000381418.4																			0				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	27						c.(2356-2358)Gcc>Acc		hair growth associated							41	45	44					8																	21978589		2203	4299	6502	SO:0001583	missense	55806						DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity	g.chr8:21978589C>T	AF039196	CCDS6022.1, CCDS6023.1	8p12	2012-12-07	2012-12-07		ENSG00000168453	ENSG00000168453			5172	protein-coding gene	gene with protein product		602302	"hairless (mouse) homolog", "hairless homolog (mouse)"	ALUNC		10051399, 9463324	Standard	NM_018411		Approved	AU	uc003xas.3	O43593	OTTHUMG00000097089	ENST00000381418.4:c.2356G>A	8.37:g.21978589C>T	ENSP00000370826:p.Ala786Thr					HR_ENST00000312841.8_Missense_Mutation_p.A786T	p.A786T	NM_005144.4	NP_005135.2	O43593	HAIR_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;1.19e-05)|BRCA - Breast invasive adenocarcinoma(99;3.56e-05)|Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1)	10	3836	-		Breast(100;0.000162)|Acute lymphoblastic leukemia(644;0.0775)|Prostate(55;0.116)	786					Q6GS30|Q96H33|Q9NPE1	Missense_Mutation	SNP	ENST00000381418.4	37	c.2356G>A	CCDS6022.1	.	.	.	.	.	.	.	.	.	.	C	18.19	3.569956	0.65765	.	.	ENSG00000168453	ENST00000381418;ENST00000312841;ENST00000517699	T;T;T	0.72394	-0.64;-0.65;0.79	5.07	5.07	0.68467	.	0.000000	0.56097	D	0.000037	T	0.65407	0.2688	N	0.25286	0.73	0.44531	D	0.997482	P;P	0.51351	0.944;0.908	P;P	0.50825	0.651;0.449	T	0.63902	-0.6532	10	0.31617	T	0.26	-13.0146	14.2885	0.66260	0.0:1.0:0.0:0.0	.	786;786	O43593-2;O43593	.;HAIR_HUMAN	T	786;786;9	ENSP00000370826:A786T;ENSP00000326765:A786T;ENSP00000430413:A9T	ENSP00000326765:A786T	A	-	1	0	HR	22034534	0.995000	0.38212	0.923000	0.36655	0.751000	0.42716	3.203000	0.51075	2.499000	0.84300	0.561000	0.74099	GCC		0.662	HR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214213.1			12	31	0	0	0	1	0	12	31					T	21978589	C	T	21978589	3	4	435	1	0	0	0	0	1	0	0	0	7347	739	26	3	1253	3	HR	8	21978589	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	18278	21978589	124385433	3946	24871											
HR	55806	broad.mit.edu	37	chr8	21979159	21979159	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cttggtcctgtgggtgtcgcCattgcaggaaggttgtggag	5	12	17	7	1	0	0	0	0	0	0	2	2	1	2	2	5	1	2	2	5	1	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:21979159C>T	ENST00000381418.4	-	9	3650	c.2170G>A	c.(2170-2172)Ggc>Agc	p.G724S	HR_ENST00000312841.8_Missense_Mutation_p.G724S	NM_005144.4	NP_005135.2	O43593	HAIR_HUMAN	hair growth associated	724					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nuclear body (GO:0016604)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|oxidoreductase activity (GO:0016491)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	27		Breast(100;0.000162)|Acute lymphoblastic leukemia(644;0.0775)|Prostate(55;0.116)		KIRC - Kidney renal clear cell carcinoma(542;1.19e-05)|BRCA - Breast invasive adenocarcinoma(99;3.56e-05)|Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1)		TGGGTGTCGCCATTGCAGGAA	0.562																																						ENST00000381418.4																			0				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	27						c.(2170-2172)Ggc>Agc		hair growth associated							195	182	187					8																	21979159		2203	4300	6503	SO:0001583	missense	55806						DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity	g.chr8:21979159C>T	AF039196	CCDS6022.1, CCDS6023.1	8p12	2012-12-07	2012-12-07		ENSG00000168453	ENSG00000168453			5172	protein-coding gene	gene with protein product		602302	"hairless (mouse) homolog", "hairless homolog (mouse)"	ALUNC		10051399, 9463324	Standard	NM_018411		Approved	AU	uc003xas.3	O43593	OTTHUMG00000097089	ENST00000381418.4:c.2170G>A	8.37:g.21979159C>T	ENSP00000370826:p.Gly724Ser					HR_ENST00000312841.8_Missense_Mutation_p.G724S	p.G724S	NM_005144.4	NP_005135.2	O43593	HAIR_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;1.19e-05)|BRCA - Breast invasive adenocarcinoma(99;3.56e-05)|Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1)	9	3650	-		Breast(100;0.000162)|Acute lymphoblastic leukemia(644;0.0775)|Prostate(55;0.116)	724					Q6GS30|Q96H33|Q9NPE1	Missense_Mutation	SNP	ENST00000381418.4	37	c.2170G>A	CCDS6022.1	.	.	.	.	.	.	.	.	.	.	C	16.87	3.243043	0.58995	.	.	ENSG00000168453	ENST00000381418;ENST00000312841	T;T	0.72051	-0.61;-0.62	5.59	3.8	0.43715	.	0.492235	0.18666	N	0.134583	T	0.57021	0.2025	L	0.36672	1.1	0.21604	N	0.999621	P;P	0.42692	0.787;0.518	B;B	0.38428	0.273;0.141	T	0.44406	-0.9330	10	0.33141	T	0.24	-4.7234	9.0529	0.36387	0.0:0.8298:0.0:0.1702	.	724;724	O43593-2;O43593	.;HAIR_HUMAN	S	724	ENSP00000370826:G724S;ENSP00000326765:G724S	ENSP00000326765:G724S	G	-	1	0	HR	22035104	0.013000	0.17824	0.309000	0.25155	0.952000	0.60782	1.023000	0.30065	0.723000	0.32274	0.561000	0.74099	GGC		0.562	HR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214213.1			32	46	0	0	0	1	0	32	46					T	21979159	C	T	21979159	3	4	435	1	0	0	0	0	1	0	0	0	7347	594	21	3	1443	3	HR	8	21979159	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	570	21979159	124384863	3947	24872											
REEP4	80346	broad.mit.edu	37	chr8	21996508	21996508	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atggtaggcaggggcaggtgCgtcagagatggagcgcaggt	9	6	20	6	2	1	1	1	0	0	1	1	3	1	2	0	7	2	4	0	7	1	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:21996508C>T	ENST00000306306.3	-	6	952	c.484G>A	c.(484-486)Gca>Aca	p.A162T	REEP4_ENST00000523293.1_Missense_Mutation_p.A162T|REEP4_ENST00000334530.5_Intron	NM_025232.2	NP_079508.2	Q9H6H4	REEP4_HUMAN	receptor accessory protein 4	162					mitotic nuclear division (GO:0007067)|mitotic nuclear envelope reassembly (GO:0007084)|nuclear envelope organization (GO:0006998)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|microtubule (GO:0005874)	microtubule binding (GO:0008017)			kidney(1)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	7				Colorectal(74;0.00187)|COAD - Colon adenocarcinoma(73;0.061)|READ - Rectum adenocarcinoma(644;0.0993)		GGGGCAGGTGCGTCAGAGATG	0.692																																						ENST00000306306.3																			0				kidney(1)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	7						c.(484-486)Gca>Aca		receptor accessory protein 4							25	24	24					8																	21996508		2202	4298	6500	SO:0001583	missense	80346					integral to membrane		g.chr8:21996508C>T	BC013048	CCDS6024.1	8p21.3	2008-05-02	2006-02-07	2006-02-07	ENSG00000168476	ENSG00000168476		"Receptor accessory proteins"	26176	protein-coding gene	gene with protein product		609349	"chromosome 8 open reading frame 20"	C8orf20		16271481, 15550249	Standard	NM_025232		Approved	FLJ22246, FLJ22277, PP432	uc003xau.1	Q9H6H4	OTTHUMG00000131491	ENST00000306306.3:c.484G>A	8.37:g.21996508C>T	ENSP00000303482:p.Ala162Thr					REEP4_ENST00000334530.5_Intron|REEP4_ENST00000523293.1_Missense_Mutation_p.A162T	p.A162T	NM_025232.2	NP_079508.2	Q9H6H4	REEP4_HUMAN		Colorectal(74;0.00187)|COAD - Colon adenocarcinoma(73;0.061)|READ - Rectum adenocarcinoma(644;0.0993)	6	952	-			162					D3DSQ9|Q86VL1|Q9H6I5|Q9HBP4	Missense_Mutation	SNP	ENST00000306306.3	37	c.484G>A	CCDS6024.1	.	.	.	.	.	.	.	.	.	.	C	4.691	0.128469	0.08981	.	.	ENSG00000168476	ENST00000306306;ENST00000523293;ENST00000518664	D;D;D	0.87966	-1.64;-2.32;-2.25	4.86	-1.87	0.07737	.	1.393810	0.05295	N	0.521929	T	0.74951	0.3784	N	0.14661	0.345	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.57837	-0.7742	10	0.17369	T	0.5	-14.3631	9.7116	0.40249	0.0:0.4082:0.0:0.5918	.	162	Q9H6H4	REEP4_HUMAN	T	162	ENSP00000303482:A162T;ENSP00000428709:A162T;ENSP00000428160:A162T	ENSP00000303482:A162T	A	-	1	0	REEP4	22052453	0.000000	0.05858	0.001000	0.08648	0.000000	0.00434	0.556000	0.23438	-0.336000	0.08438	-0.150000	0.13652	GCA		0.692	REEP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254337.2	NM_025232		6	5	0	0	0	1	0	6	5					T	21996508	C	T	21996508	3	4	435	1	0	0	0	0	1	0	0	0	13207	768	27	1	301	1	REEP4	8	21996508	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	17349	21996508	124367514	3948	24873											
BMP1	649	broad.mit.edu	37	chr8	22052051	22052051	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagcaaagtctgcatctggcGgatccaggtgtctgagggct	8	9	14	10	1	3	1	0	1	3	0	4	2	4	2	1	4	2	3	1	4	1	0	rs561063512		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:22052051G>A	ENST00000306385.5	+	11	2061	c.1391G>A	c.(1390-1392)cGg>cAg	p.R464Q	BMP1_ENST00000397816.3_Missense_Mutation_p.R464Q|BMP1_ENST00000354870.5_3'UTR|BMP1_ENST00000306349.8_Missense_Mutation_p.R464Q|BMP1_ENST00000397814.3_Missense_Mutation_p.R464Q	NM_006129.4	NP_006120.1	P13497	BMP1_HUMAN	bone morphogenetic protein 1	464	CUB 2. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cartilage condensation (GO:0001502)|cell differentiation (GO:0030154)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|lipoprotein metabolic process (GO:0042157)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)|positive regulation of cartilage development (GO:0061036)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|membrane-bounded vesicle (GO:0031988)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|peptidase activity (GO:0008233)|zinc ion binding (GO:0008270)			breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(3)	30				Colorectal(74;0.00229)|COAD - Colon adenocarcinoma(73;0.0661)|READ - Rectum adenocarcinoma(644;0.11)		TGCATCTGGCGGATCCAGGTG	0.562													G|||	1	0.000199681	0	0	5008	,	,		19278	0		0	False		,,,				2504	0.001					ENST00000306385.5																			0				breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(3)	30						c.(1390-1392)cGg>cAg		bone morphogenetic protein 1							113	102	106					8																	22052051		2203	4300	6503	SO:0001583	missense	649				cartilage condensation|cell differentiation|lipid metabolic process|lipoprotein metabolic process|ossification|positive regulation of cartilage development|proteolysis	extracellular space	calcium ion binding|cytokine activity|growth factor activity|metalloendopeptidase activity|zinc ion binding	g.chr8:22052051G>A		CCDS6026.1, CCDS34856.1	8p21	2013-02-06	2004-08-09		ENSG00000168487	ENSG00000168487	3.4.24.19	"Bone morphogenetic proteins"	1067	protein-coding gene	gene with protein product	"procollagen C-endopeptidase"	112264	"procollagen C-endopeptidase"	PCOLC		2004778	Standard	NM_006129		Approved		uc003xbg.3	P13497	OTTHUMG00000097761	ENST00000306385.5:c.1391G>A	8.37:g.22052051G>A	ENSP00000305714:p.Arg464Gln					BMP1_ENST00000397816.3_Missense_Mutation_p.R464Q|BMP1_ENST00000354870.5_3'UTR|BMP1_ENST00000397814.3_Missense_Mutation_p.R464Q|BMP1_ENST00000306349.8_Missense_Mutation_p.R464Q	p.R464Q	NM_006129.4	NP_006120.1	P13497	BMP1_HUMAN		Colorectal(74;0.00229)|COAD - Colon adenocarcinoma(73;0.0661)|READ - Rectum adenocarcinoma(644;0.11)	11	2061	+			464			CUB 2.		A8K6F5|B2RN46|D3DSR0|Q13292|Q13872|Q14874|Q99421|Q99422|Q99423|Q9UL38	Missense_Mutation	SNP	ENST00000306385.5	37	c.1391G>A	CCDS6026.1	.	.	.	.	.	.	.	.	.	.	G	17.56	3.419360	0.62622	.	.	ENSG00000168487	ENST00000306385;ENST00000397816;ENST00000306349;ENST00000397814	T;T;T;T	0.34667	1.35;1.35;1.35;1.35	5.28	4.4	0.53042	CUB (5);	0.000000	0.35151	U	0.003416	T	0.28001	0.0690	L	0.31578	0.945	0.80722	D	1	P;D;P;P	0.55800	0.699;0.973;0.841;0.788	B;P;B;B	0.49361	0.274;0.608;0.196;0.227	T	0.02491	-1.1151	10	0.16420	T	0.52	.	6.0938	0.20008	0.2523:0.0:0.7477:0.0	.	464;537;464;464	P13497;Q59F71;P13497-2;P13497-6	BMP1_HUMAN;.;.;.	Q	464	ENSP00000305714:R464Q;ENSP00000380917:R464Q;ENSP00000306121:R464Q;ENSP00000380915:R464Q	ENSP00000306121:R464Q	R	+	2	0	BMP1	22107996	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.101000	0.71479	2.450000	0.82876	0.561000	0.74099	CGG		0.562	BMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214995.2	NM_006132		14	31	0	0	0	1	0	14	31					A	22052051	G	A	22052051	3	1	435	1	0	0	0	0	1	0	0	0	1456	1116	39	2	1433	2	BMP1	8	22052051	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	55543	22052051	124311971	3949	24874											
BMP1	649	broad.mit.edu	37	chr8	22053008	22053008	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ctctcggcccaaccgcggggGctgtgagcagcggtgcctca	5	6	15	15	4	2	1	1	1	1	0	3	1	2	1	3	4	4	2	3	4	1	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:22053008G>A	ENST00000306385.5	+	13	2343	c.1673G>A	c.(1672-1674)gGc>gAc	p.G558D	BMP1_ENST00000397816.3_Missense_Mutation_p.G558D|BMP1_ENST00000354870.5_3'UTR|BMP1_ENST00000306349.8_Missense_Mutation_p.G558D|BMP1_ENST00000397814.3_Missense_Mutation_p.G558D	NM_006129.4	NP_006120.1	P13497	BMP1_HUMAN	bone morphogenetic protein 1	558	EGF-like 1; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				cartilage condensation (GO:0001502)|cell differentiation (GO:0030154)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|lipoprotein metabolic process (GO:0042157)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)|positive regulation of cartilage development (GO:0061036)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|membrane-bounded vesicle (GO:0031988)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|peptidase activity (GO:0008233)|zinc ion binding (GO:0008270)			breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(3)	30				Colorectal(74;0.00229)|COAD - Colon adenocarcinoma(73;0.0661)|READ - Rectum adenocarcinoma(644;0.11)		AACCGCGGGGGCTGTGAGCAG	0.642																																						ENST00000306385.5																			0				breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(3)	30						c.(1672-1674)gGc>gAc		bone morphogenetic protein 1							47	47	47					8																	22053008		2203	4300	6503	SO:0001583	missense	649				cartilage condensation|cell differentiation|lipid metabolic process|lipoprotein metabolic process|ossification|positive regulation of cartilage development|proteolysis	extracellular space	calcium ion binding|cytokine activity|growth factor activity|metalloendopeptidase activity|zinc ion binding	g.chr8:22053008G>A		CCDS6026.1, CCDS34856.1	8p21	2013-02-06	2004-08-09		ENSG00000168487	ENSG00000168487	3.4.24.19	"Bone morphogenetic proteins"	1067	protein-coding gene	gene with protein product	"procollagen C-endopeptidase"	112264	"procollagen C-endopeptidase"	PCOLC		2004778	Standard	NM_006129		Approved		uc003xbg.3	P13497	OTTHUMG00000097761	ENST00000306385.5:c.1673G>A	8.37:g.22053008G>A	ENSP00000305714:p.Gly558Asp					BMP1_ENST00000397816.3_Missense_Mutation_p.G558D|BMP1_ENST00000354870.5_3'UTR|BMP1_ENST00000397814.3_Missense_Mutation_p.G558D|BMP1_ENST00000306349.8_Missense_Mutation_p.G558D	p.G558D	NM_006129.4	NP_006120.1	P13497	BMP1_HUMAN		Colorectal(74;0.00229)|COAD - Colon adenocarcinoma(73;0.0661)|READ - Rectum adenocarcinoma(644;0.11)	13	2343	+			558			EGF-like 1; calcium-binding (Potential).		A8K6F5|B2RN46|D3DSR0|Q13292|Q13872|Q14874|Q99421|Q99422|Q99423|Q9UL38	Missense_Mutation	SNP	ENST00000306385.5	37	c.1673G>A	CCDS6026.1	.	.	.	.	.	.	.	.	.	.	G	18.36	3.607074	0.66558	.	.	ENSG00000168487	ENST00000306385;ENST00000397816;ENST00000306349;ENST00000397814	D;D;D;D	0.98192	-4.78;-4.78;-4.78;-4.78	5.19	4.31	0.51392	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.000000	0.37053	U	0.002275	D	0.98096	0.9372	L	0.50847	1.595	0.80722	D	1	P;P;P;D	0.67145	0.737;0.804;0.948;0.996	P;P;P;D	0.66847	0.795;0.507;0.847;0.947	D	0.98290	1.0513	10	0.62326	D	0.03	.	12.2182	0.54418	0.084:0.0:0.916:0.0	.	558;631;558;558	P13497;Q59F71;P13497-2;P13497-6	BMP1_HUMAN;.;.;.	D	558	ENSP00000305714:G558D;ENSP00000380917:G558D;ENSP00000306121:G558D;ENSP00000380915:G558D	ENSP00000306121:G558D	G	+	2	0	BMP1	22108953	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.947000	0.87758	1.183000	0.42943	0.563000	0.77884	GGC		0.642	BMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214995.2	NM_006132		14	28	0	0	0	1	0	14	28					A	22053008	G	A	22053008	3	1	435	1	0	0	0	0	1	0	0	0	1456	1203	42	3	1723	3	BMP1	8	22053008	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	957	22053008	124311014	3950	24875											
PHYHIP	9796	broad.mit.edu	37	chr8	22079190	22079190	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgtacatgcagtagaagtcCgcaaagtagaggttggtgct	11	10	14	6	1	0	2	0	0	0	2	1	2	1	2	1	2	3	7	1	2	5	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:22079190C>T	ENST00000321613.3	-	6	1125	c.669G>A	c.(667-669)gcG>gcA	p.A223A	PHYHIP_ENST00000454243.2_Silent_p.A223A	NM_001099335.1	NP_001092805.1	Q92561	PHYIP_HUMAN	phytanoyl-CoA 2-hydroxylase interacting protein	223										endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|upper_aerodigestive_tract(1)	10				Colorectal(74;0.0152)|COAD - Colon adenocarcinoma(73;0.0629)		AGTAGAAGTCCGCAAAGTAGA	0.662																																						ENST00000454243.2																			0				endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|upper_aerodigestive_tract(1)	10						c.(667-669)gcG>gcA		phytanoyl-CoA 2-hydroxylase interacting protein							17	23	21					8																	22079190		2032	4166	6198	SO:0001819	synonymous_variant	9796							g.chr8:22079190C>T	D87463	CCDS43723.1	8p21.2	2010-02-17	2006-01-09		ENSG00000168490	ENSG00000168490			16865	protein-coding gene	gene with protein product		608511	"phytanoyl-CoA hydroxylase interacting protein", "DYRK1A interacting protein 3"	DYRK1AP3		9039502, 10686344	Standard	NM_014759		Approved	KIAA0273, PAHX-AP	uc003xbj.4	Q92561	OTTHUMG00000163776	ENST00000321613.3:c.669G>A	8.37:g.22079190C>T						PHYHIP_ENST00000321613.3_Silent_p.A223A	p.A223A	NM_014759.3	NP_055574.3	Q92561	PHYIP_HUMAN		Colorectal(74;0.0152)|COAD - Colon adenocarcinoma(73;0.0629)	5	1243	-			223					D3DSR1|Q8N4I9	Silent	SNP	ENST00000321613.3	37	c.669G>A	CCDS43723.1																																																																																				0.662	PHYHIP-002	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000375388.1	NM_014759		3	6	0	0	0	1	0	3	6					T	22079190	C	T	22079190	2	4	435	1	0	0	0	0	0	0	0	1	11866	639	23	2		2	PHYHIP	8	22079190	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	26182	22079190	124284832	3951	24876											
PIWIL2	55124	broad.mit.edu	37	chr8	22137041	22137041	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggggagcacctgcaggcagaGgccatgtatttggaaagcca	11	6	15	9	0	0	1	0	0	0	1	0	3	0	3	3	5	3	4	3	5	2	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:22137041G>T	ENST00000454009.2	+	2	651	c.142G>T	c.(142-144)Ggc>Tgc	p.G48C	PIWIL2_ENST00000521356.1_Missense_Mutation_p.G48C|PIWIL2_ENST00000356766.6_Missense_Mutation_p.G48C	NM_001135721.1	NP_001129193.1	Q8TC59	PIWL2_HUMAN	piwi-like RNA-mediated gene silencing 2	48					DNA methylation involved in gamete generation (GO:0043046)|gene silencing by RNA (GO:0031047)|germ-line stem cell maintenance (GO:0030718)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|oogenesis (GO:0048477)|piRNA metabolic process (GO:0034587)|positive regulation of meiosis I (GO:0060903)|positive regulation of translation (GO:0045727)|RNA 5'-end processing (GO:0000966)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|P granule (GO:0043186)|pi-body (GO:0071546)|polysome (GO:0005844)	mRNA binding (GO:0003729)|piRNA binding (GO:0034584)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(14)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	46				Colorectal(74;0.018)|COAD - Colon adenocarcinoma(73;0.0707)		TGCAGGCAGAGGCCATGTATT	0.577																																						ENST00000356766.6																			0				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(14)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	46						c.(142-144)Ggc>Tgc		piwi-like RNA-mediated gene silencing 2							94	94	94					8																	22137041		2203	4300	6503	SO:0001583	missense	55124				DNA methylation involved in gamete generation|gene silencing by RNA|germ-line stem cell maintenance|multicellular organismal development|oogenesis|piRNA metabolic process|positive regulation of translation|RNA 5'-end processing|spermatogenesis	chromatoid body|pi-body	piRNA binding	g.chr8:22137041G>T	AK001213	CCDS6029.1	8p24	2013-02-15	2013-02-15		ENSG00000197181	ENSG00000197181		"Argonaute/PIWI family"	17644	protein-coding gene	gene with protein product	"Hiwi-like", "cancer/testis antigen 80"	610312	"piwi-like 2 (Drosophila)"			11279525, 12906857	Standard	NM_018068		Approved	HILI, FLJ10351, Mili, CT80	uc003xbn.2	Q8TC59	OTTHUMG00000097767	ENST00000454009.2:c.142G>T	8.37:g.22137041G>T	ENSP00000406956:p.Gly48Cys					PIWIL2_ENST00000521356.1_Missense_Mutation_p.G48C|PIWIL2_ENST00000454009.2_Missense_Mutation_p.G48C	p.G48C	NM_018068.3	NP_060538.2	Q8TC59	PIWL2_HUMAN		Colorectal(74;0.018)|COAD - Colon adenocarcinoma(73;0.0707)	2	290	+			48					A8K4S3|A8K8S5|B0AZN9|B0AZP2|B4DR22|E7ECA4|Q96SW6|Q9NW28	Missense_Mutation	SNP	ENST00000454009.2	37	c.142G>T	CCDS6029.1	.	.	.	.	.	.	.	.	.	.	G	16.49	3.137172	0.56936	.	.	ENSG00000197181	ENST00000356766;ENST00000521356;ENST00000454009	T;T;T	0.06218	3.37;3.33;3.37	5.93	5.07	0.68467	.	0.257841	0.31566	N	0.007423	T	0.12902	0.0313	L	0.27053	0.805	0.44155	D	0.996955	D;D	0.76494	0.999;0.999	D;D	0.66716	0.946;0.946	T	0.03139	-1.1068	10	0.72032	D	0.01	-10.768	11.0594	0.47938	0.0848:0.0:0.9152:0.0	.	48;48	E7ECA4;Q8TC59	.;PIWL2_HUMAN	C	48	ENSP00000349208:G48C;ENSP00000428267:G48C;ENSP00000406956:G48C	ENSP00000349208:G48C	G	+	1	0	PIWIL2	22192986	1.000000	0.71417	1.000000	0.80357	0.602000	0.36980	4.489000	0.60309	1.521000	0.48983	-0.136000	0.14681	GGC		0.577	PIWIL2-003	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000375438.1			5	62	1	0	0.000602214	1	0.000612743	5	62					T	22137041	G	T	22137041	3	4	435	1	0	0	0	0	1	0	0	0	11958	1000	35	5	144	5	PIWIL2	8	22137041	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	57851	22137041	124226981	3952	24877											
PIWIL2	55124	broad.mit.edu	37	chr8	22211821	22211821	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ttgcccatcatgtacggcagGgctgtggcattcctacgcat	7	11	11	12	2	1	0	1	0	0	0	2	0	2	0	2	3	3	5	2	3	2	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:22211821G>A	ENST00000454009.2	+	22	3204	c.2695G>A	c.(2695-2697)Ggc>Agc	p.G899S	PIWIL2_ENST00000521356.1_Intron|PIWIL2_ENST00000356766.6_Missense_Mutation_p.G899S	NM_001135721.1	NP_001129193.1	Q8TC59	PIWL2_HUMAN	piwi-like RNA-mediated gene silencing 2	899	Piwi. {ECO:0000255|PROSITE- ProRule:PRU00150}.				DNA methylation involved in gamete generation (GO:0043046)|gene silencing by RNA (GO:0031047)|germ-line stem cell maintenance (GO:0030718)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|oogenesis (GO:0048477)|piRNA metabolic process (GO:0034587)|positive regulation of meiosis I (GO:0060903)|positive regulation of translation (GO:0045727)|RNA 5'-end processing (GO:0000966)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|P granule (GO:0043186)|pi-body (GO:0071546)|polysome (GO:0005844)	mRNA binding (GO:0003729)|piRNA binding (GO:0034584)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(14)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	46				Colorectal(74;0.018)|COAD - Colon adenocarcinoma(73;0.0707)		TGTACGGCAGGGCTGTGGCAT	0.478																																						ENST00000356766.6																			0				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(14)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	46						c.(2695-2697)Ggc>Agc		piwi-like RNA-mediated gene silencing 2							204	165	178					8																	22211821		2203	4300	6503	SO:0001583	missense	55124				DNA methylation involved in gamete generation|gene silencing by RNA|germ-line stem cell maintenance|multicellular organismal development|oogenesis|piRNA metabolic process|positive regulation of translation|RNA 5'-end processing|spermatogenesis	chromatoid body|pi-body	piRNA binding	g.chr8:22211821G>A	AK001213	CCDS6029.1	8p24	2013-02-15	2013-02-15		ENSG00000197181	ENSG00000197181		"Argonaute/PIWI family"	17644	protein-coding gene	gene with protein product	"Hiwi-like", "cancer/testis antigen 80"	610312	"piwi-like 2 (Drosophila)"			11279525, 12906857	Standard	NM_018068		Approved	HILI, FLJ10351, Mili, CT80	uc003xbn.2	Q8TC59	OTTHUMG00000097767	ENST00000454009.2:c.2695G>A	8.37:g.22211821G>A	ENSP00000406956:p.Gly899Ser					PIWIL2_ENST00000521356.1_Intron|PIWIL2_ENST00000454009.2_Missense_Mutation_p.G899S	p.G899S	NM_018068.3	NP_060538.2	Q8TC59	PIWL2_HUMAN		Colorectal(74;0.018)|COAD - Colon adenocarcinoma(73;0.0707)	22	2843	+			899			Piwi.		A8K4S3|A8K8S5|B0AZN9|B0AZP2|B4DR22|E7ECA4|Q96SW6|Q9NW28	Missense_Mutation	SNP	ENST00000454009.2	37	c.2695G>A	CCDS6029.1	.	.	.	.	.	.	.	.	.	.	G	32	5.116390	0.94385	.	.	ENSG00000197181	ENST00000356766;ENST00000454009	T;T	0.56275	0.47;0.47	4.49	4.49	0.54785	Stem cell self-renewal protein Piwi (3);Ribonuclease H-like (1);	0.000000	0.85682	D	0.000000	T	0.79511	0.4458	M	0.94063	3.49	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.85871	0.1416	10	0.87932	D	0	-21.2404	16.3803	0.83458	0.0:0.0:1.0:0.0	.	899	Q8TC59	PIWL2_HUMAN	S	899	ENSP00000349208:G899S;ENSP00000406956:G899S	ENSP00000349208:G899S	G	+	1	0	PIWIL2	22267766	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.555000	0.98123	2.238000	0.73509	0.556000	0.70494	GGC		0.478	PIWIL2-003	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000375438.1			36	62	0	0	0	1	0	36	62					A	22211821	G	A	22211821	3	1	435	1	0	0	0	0	1	0	0	0	11958	1232	43	3	2777	3	PIWIL2	8	22211821	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	74780	22211821	124152201	3953	24878											
PPP3CC	5533	broad.mit.edu	37	chr8	22355515	22355515	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcttgaatttgtcttgtagtGtgtgctgtatttatggagtt	6	20	12	3	0	1	1	0	1	1	0	1	2	1	2	0	1	1	5	0	1	4	8			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:22355515G>A	ENST00000240139.5	+	4	701	c.374G>A	c.(373-375)tGt>tAt	p.C125Y	PPP3CC_ENST00000397775.3_Splice_Site_p.C125Y|PPP3CC_ENST00000289963.8_Splice_Site_p.C125Y|PPP3CC_ENST00000518852.1_Splice_Site_p.C125Y	NM_005605.4	NP_005596.2	P48454	PP2BC_HUMAN	protein phosphatase 3, catalytic subunit, gamma isozyme	125					apoptotic process (GO:0006915)|intrinsic apoptotic signaling pathway (GO:0097193)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	metal ion binding (GO:0046872)|phosphoprotein phosphatase activity (GO:0004721)			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17		Prostate(55;0.104)		BRCA - Breast invasive adenocarcinoma(99;0.00756)|Colorectal(74;0.0238)|COAD - Colon adenocarcinoma(73;0.0835)		GTCTTGTAGTGTGTGCTGTAT	0.323																																						ENST00000240139.5																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17						c.e4-1		protein phosphatase 3, catalytic subunit, gamma isozyme							136	125	129					8																	22355515		2203	4300	6503	SO:0001630	splice_region_variant	5533				activation of pro-apoptotic gene products|induction of apoptosis by intracellular signals	cytosol	calmodulin binding|metal ion binding|phosphoprotein phosphatase activity	g.chr8:22355515G>A		CCDS34859.1, CCDS59094.1, CCDS59093.1	8p21.3	2010-03-17	2010-03-05		ENSG00000120910	ENSG00000120910	3.1.3.16	"Serine/threonine phosphatases / Protein phosphatase, catalytic subunits"	9316	protein-coding gene	gene with protein product	"calcineurin A gamma", "protein phosphatase 2B, catalytic subunit, gamma isoform"	114107	"protein phosphatase 3 (formerly 2B), catalytic subunit, gamma isoform (calcineurin A gamma)", "protein phosphatase 3 (formerly 2B), catalytic subunit, gamma isoform"			1339277	Standard	NM_005605		Approved	CALNA3, PP2Bgamma	uc011kzi.2	P48454	OTTHUMG00000163802	ENST00000240139.5:c.373-1G>A	8.37:g.22355515G>A						PPP3CC_ENST00000518852.1_Splice_Site_p.C125_splice|PPP3CC_ENST00000397775.3_Splice_Site_p.C125_splice|PPP3CC_ENST00000289963.8_Splice_Site_p.C125_splice	p.C125_splice	NM_005605.4	NP_005596.2	P48454	PP2BC_HUMAN		BRCA - Breast invasive adenocarcinoma(99;0.00756)|Colorectal(74;0.0238)|COAD - Colon adenocarcinoma(73;0.0835)	4	701	+		Prostate(55;0.104)	125					B4DRT5|Q9BSS6|Q9H4M5	Splice_Site	SNP	ENST00000240139.5	37	c.372_splice	CCDS34859.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	23.7|23.7	4.443013|4.443013	0.83993|0.83993	.|.	.|.	ENSG00000120910|ENSG00000120910	ENST00000518852;ENST00000240139;ENST00000289963;ENST00000397775|ENST00000521651	T;T;T;T|.	0.06294|.	3.32;3.32;3.32;3.32|.	5.84|5.84	5.84|5.84	0.93424|0.93424	Serine/threonine-specific protein phosphatase/bis(5-nucleosyl)-tetraphosphatase (2);Metallophosphoesterase domain (1);|.	0.086453|.	0.85682|.	D|.	0.000000|.	D|D	0.91019|0.91019	0.7175|0.7175	H|H	0.98525|0.98525	4.255|4.255	0.80722|0.80722	D|D	1|1	D;D;D;D|.	0.89917|.	1.0;1.0;1.0;1.0|.	D;D;D;D|.	0.91635|.	0.998;0.998;0.999;0.995|.	D|D	0.93981|0.93981	0.7258|0.7258	10|5	0.87932|.	D|.	0|.	-17.7901|-17.7901	18.8935|18.8935	0.92414|0.92414	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	125;125;125;125|.	B4DRT5;P48454-2;P48454;G3V111|.	.;.;PP2BC_HUMAN;.|.	Y|M	125|2	ENSP00000429379:C125Y;ENSP00000240139:C125Y;ENSP00000289963:C125Y;ENSP00000380878:C125Y|.	ENSP00000240139:C125Y|.	C|V	+|+	2|1	0|0	PPP3CC|PPP3CC	22411460|22411460	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.908000|0.908000	0.53690|0.53690	9.415000|9.415000	0.97375|0.97375	2.754000|2.754000	0.94517|0.94517	0.655000|0.655000	0.94253|0.94253	TGT|GTG		0.323	PPP3CC-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000375652.1	NM_005605	Missense_Mutation	13	22	0	0	0	1	0	13	22					A	22355515	G	A	22355515	5	1	435	1	0	0	0	0	0	0	1	0	12399	1391	48	3	388	3	PPP3CC	8	22355515	Splice_Site	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	143694	22355515	124008507	3954	24879											
PPP3CC	5533	broad.mit.edu	37	chr8	22398279	22398279	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcagcacactcacatgctgcGcacaggagcgaccaagggaa	13	4	11	13	2	2	0	2	0	0	0	2	3	2	2	1	2	4	3	1	2	2	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:22398279G>A	ENST00000240139.5	+	14	1830	c.1503G>A	c.(1501-1503)gcG>gcA	p.A501A	RP11-582J16.4_ENST00000514980.1_RNA|PPP3CC_ENST00000397775.3_Silent_p.A510A|PPP3CC_ENST00000289963.8_Silent_p.A491A	NM_005605.4	NP_005596.2	P48454	PP2BC_HUMAN	protein phosphatase 3, catalytic subunit, gamma isozyme	501			A -> V (in dbSNP:rs28764007).		apoptotic process (GO:0006915)|intrinsic apoptotic signaling pathway (GO:0097193)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	metal ion binding (GO:0046872)|phosphoprotein phosphatase activity (GO:0004721)			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17		Prostate(55;0.104)		BRCA - Breast invasive adenocarcinoma(99;0.00756)|Colorectal(74;0.0238)|COAD - Colon adenocarcinoma(73;0.0835)		CACATGCTGCGCACAGGAGCG	0.473																																						ENST00000240139.5																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17						c.(1501-1503)gcG>gcA		protein phosphatase 3, catalytic subunit, gamma isozyme							55	51	52					8																	22398279		2203	4300	6503	SO:0001819	synonymous_variant	5533				activation of pro-apoptotic gene products|induction of apoptosis by intracellular signals	cytosol	calmodulin binding|metal ion binding|phosphoprotein phosphatase activity	g.chr8:22398279G>A		CCDS34859.1, CCDS59094.1, CCDS59093.1	8p21.3	2010-03-17	2010-03-05		ENSG00000120910	ENSG00000120910	3.1.3.16	"Serine/threonine phosphatases / Protein phosphatase, catalytic subunits"	9316	protein-coding gene	gene with protein product	"calcineurin A gamma", "protein phosphatase 2B, catalytic subunit, gamma isoform"	114107	"protein phosphatase 3 (formerly 2B), catalytic subunit, gamma isoform (calcineurin A gamma)", "protein phosphatase 3 (formerly 2B), catalytic subunit, gamma isoform"			1339277	Standard	NM_005605		Approved	CALNA3, PP2Bgamma	uc011kzi.2	P48454	OTTHUMG00000163802	ENST00000240139.5:c.1503G>A	8.37:g.22398279G>A						PPP3CC_ENST00000397775.3_Silent_p.A510A|PPP3CC_ENST00000289963.8_Silent_p.A491A	p.A501A	NM_005605.4	NP_005596.2	P48454	PP2BC_HUMAN		BRCA - Breast invasive adenocarcinoma(99;0.00756)|Colorectal(74;0.0238)|COAD - Colon adenocarcinoma(73;0.0835)	14	1830	+		Prostate(55;0.104)	501		A -> V (in dbSNP:rs28764007).			B4DRT5|Q9BSS6|Q9H4M5	Silent	SNP	ENST00000240139.5	37	c.1503G>A	CCDS34859.1																																																																																				0.473	PPP3CC-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000375652.1	NM_005605		12	15	0	0	0	1	0	12	15					A	22398279	G	A	22398279	2	1	435	1	0	0	0	0	0	0	0	1	12399	1074	38	1		1	PPP3CC	8	22398279	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	42764	22398279	123965743	3955	24880											
C8orf58	541565	broad.mit.edu	37	chr8	22458719	22458719	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaggtgttggagcggtcccGccggctcccaacagctccca	6	6	14	15	3	0	0	0	0	0	0	3	2	3	2	4	5	3	3	4	5	1	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:22458719G>A	ENST00000289989.5	+	2	439	c.365G>A	c.(364-366)cGc>cAc	p.R122H	C8orf58_ENST00000409586.3_Missense_Mutation_p.R122H|C8orf58_ENST00000453427.2_3'UTR			Q8NAV2	CH058_HUMAN	chromosome 8 open reading frame 58	122										endometrium(1)|lung(1)|ovary(1)|skin(1)	4		Prostate(55;0.0421)|Breast(100;0.102)|all_epithelial(46;0.142)		BRCA - Breast invasive adenocarcinoma(99;0.00563)|Colorectal(74;0.0145)|COAD - Colon adenocarcinoma(73;0.0608)		GAGCGGTCCCGCCGGCTCCCA	0.657																																						ENST00000409586.3																			0				endometrium(1)|lung(1)|ovary(1)|skin(1)	4						c.(364-366)cGc>cAc		chromosome 8 open reading frame 58							12	13	13					8																	22458719		2179	4284	6463	SO:0001583	missense	541565							g.chr8:22458719G>A	BC012750	CCDS34862.1, CCDS56527.1, CCDS75708.1	8p21.3	2010-08-17			ENSG00000241852	ENSG00000241852			32233	protein-coding gene	gene with protein product							Standard	NM_001013842		Approved	FLJ34715	uc003xce.3	Q8NAV2	OTTHUMG00000154160	ENST00000289989.5:c.365G>A	8.37:g.22458719G>A	ENSP00000289989:p.Arg122His					C8orf58_ENST00000453427.2_3'UTR|C8orf58_ENST00000289989.5_Missense_Mutation_p.R122H	p.R122H	NM_001013842.2|NM_001198827.1|NM_173686.2	NP_001013864.1|NP_001185756.1|NP_775957.2	Q8NAV2	CH058_HUMAN		BRCA - Breast invasive adenocarcinoma(99;0.00563)|Colorectal(74;0.0145)|COAD - Colon adenocarcinoma(73;0.0608)	2	485	+		Prostate(55;0.0421)|Breast(100;0.102)|all_epithelial(46;0.142)	122					B4DI44	Missense_Mutation	SNP	ENST00000289989.5	37	c.365G>A	CCDS34862.1	.	.	.	.	.	.	.	.	.	.	g	11.47	1.648759	0.29336	.	.	ENSG00000248235;ENSG00000241852;ENSG00000241852;ENSG00000241852	ENST00000450780;ENST00000409586;ENST00000289989;ENST00000381191	.	.	.	3.99	-5.26	0.02772	.	1.073720	0.07275	N	0.869796	T	0.25082	0.0609	N	0.17674	0.51	0.09310	N	1	B;B;B	0.06786	0.001;0.001;0.001	B;B;B	0.04013	0.001;0.001;0.001	T	0.23261	-1.0193	9	0.29301	T	0.29	-0.1955	10.8644	0.46847	0.5794:0.0:0.4206:0.0	.	122;50;122	Q8NAV2-2;E7EQH9;Q8NAV2	.;.;CH058_HUMAN	H	191;122;122;50	.	ENSP00000399696:R191H	R	+	2	0	AC037459.4;C8orf58	22514664	0.000000	0.05858	0.000000	0.03702	0.033000	0.12548	-0.270000	0.08584	-1.437000	0.01967	-0.539000	0.04255	CGC		0.657	C8orf58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334183.1	NM_001013842		6	8	0	0	0	1	0	6	8					A	22458719	G	A	22458719	3	1	435	1	0	0	0	0	1	0	0	0	2433	1087	38	1	371	1	C8orf58	8	22458719	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	60440	22458719	123905303	3956	24881											
KIAA1967	57805	broad.mit.edu	37	chr8	22465543	22465543	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cacctgaacagatttcctgcCcggggccctcatggacggtt	7	9	11	14	2	1	2	1	1	0	1	2	3	2	3	4	4	2	1	4	4	1	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:22465543C>T	ENST00000308511.4	+	7	798	c.549C>T	c.(547-549)gcC>gcT	p.A183A	CCAR2_ENST00000389279.3_Silent_p.A183A|CCAR2_ENST00000520861.1_5'UTR			Q8N163	CCAR2_HUMAN	cell cycle and apoptosis regulator 2	183					cell cycle (GO:0007049)|cellular response to DNA damage stimulus (GO:0006974)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|mRNA processing (GO:0006397)|negative regulation of catalytic activity (GO:0043086)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902230)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA damage checkpoint (GO:2000003)|regulation of circadian rhythm (GO:0042752)|regulation of DNA-templated transcription, elongation (GO:0032784)|regulation of protein stability (GO:0031647)|response to UV (GO:0009411)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|DBIRD complex (GO:0044609)|mitochondrial matrix (GO:0005759)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|poly(A) RNA binding (GO:0044822)|RNA polymerase II core binding (GO:0000993)										GATTTCCTGCCCGGGGCCCTC	0.463																																						ENST00000308511.4																			0				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(3)|ovary(1)|skin(5)	25						c.(547-549)gcC>gcT									162	180	174					8																	22465543		2203	4300	6503	SO:0001819	synonymous_variant	0				apoptosis|positive regulation of apoptosis	mitochondrial matrix|nucleus	enzyme binding|enzyme inhibitor activity	g.chr8:22465543C>T	AL834351	CCDS34863.1	8p22	2013-08-22	2013-08-22	2013-08-22		ENSG00000158941			23360	protein-coding gene	gene with protein product	"deleted in breast cancer"	607359	"KIAA1967"	KIAA1967		12370419	Standard	NM_021174		Approved	DBC-1, DBC1, NET35	uc003xci.3	Q8N163		ENST00000308511.4:c.549C>T	8.37:g.22465543C>T						KIAA1967_ENST00000389279.3_Silent_p.A183A|KIAA1967_ENST00000520861.1_5'UTR	p.A183A			Q8N163	K1967_HUMAN		BRCA - Breast invasive adenocarcinoma(99;0.00593)|Colorectal(74;0.0157)|COAD - Colon adenocarcinoma(73;0.064)	7	798	+		Prostate(55;0.0421)|Breast(100;0.102)|all_epithelial(46;0.142)	183					A6NL03|B2RB79|D3DSR6|Q6P0Q9|Q8N3G7|Q8N8M1|Q8TF34|Q9H9Q9|Q9HD12|Q9NT55	Silent	SNP	ENST00000308511.4	37	c.549C>T	CCDS34863.1	.	.	.	.	.	.	.	.	.	.	C	11.37	1.618859	0.28801	.	.	ENSG00000158941	ENST00000518989	.	.	.	5.82	-1.92	0.07618	.	.	.	.	.	T	0.50871	0.1641	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.45041	-0.9288	4	.	.	.	-14.8312	6.6853	0.23142	0.0:0.4187:0.1369:0.4444	.	.	.	.	S	136	.	.	P	+	1	0	KIAA1967	22521488	0.989000	0.36119	0.997000	0.53966	0.995000	0.86356	-0.098000	0.11024	-0.098000	0.12285	-0.302000	0.09304	CCG		0.463	CCAR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375865.1	NM_021174		73	140	0	0	0	1	0	73	140					T	22465543	C	T	22465543	2	4	435	1	0	0	0	0	0	0	0	1	8265	610	22	3		3	KIAA1967	8	22465543	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	6824	22465543	123898479	3957	24882											
KIAA1967	57805	broad.mit.edu	37	chr8	22472943	22472943	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttttgccatgtgcaggtggcGctttgccgagtttcagtacc	5	14	12	10	2	1	0	1	0	0	0	1	1	1	0	3	2	4	4	3	2	1	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:22472943G>A	ENST00000308511.4	+	12	1460	c.1211G>A	c.(1210-1212)cGc>cAc	p.R404H	CCAR2_ENST00000389279.3_Missense_Mutation_p.R404H|CCAR2_ENST00000520861.1_Missense_Mutation_p.R79H|RP11-582J16.5_ENST00000521025.1_RNA			Q8N163	CCAR2_HUMAN	cell cycle and apoptosis regulator 2	404					cell cycle (GO:0007049)|cellular response to DNA damage stimulus (GO:0006974)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|mRNA processing (GO:0006397)|negative regulation of catalytic activity (GO:0043086)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902230)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA damage checkpoint (GO:2000003)|regulation of circadian rhythm (GO:0042752)|regulation of DNA-templated transcription, elongation (GO:0032784)|regulation of protein stability (GO:0031647)|response to UV (GO:0009411)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|DBIRD complex (GO:0044609)|mitochondrial matrix (GO:0005759)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|poly(A) RNA binding (GO:0044822)|RNA polymerase II core binding (GO:0000993)										TGCAGGTGGCGCTTTGCCGAG	0.567																																						ENST00000308511.4																			0				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(3)|ovary(1)|skin(5)	25						c.(1210-1212)cGc>cAc									72	81	78					8																	22472943		2203	4300	6503	SO:0001583	missense	0				apoptosis|positive regulation of apoptosis	mitochondrial matrix|nucleus	enzyme binding|enzyme inhibitor activity	g.chr8:22472943G>A	AL834351	CCDS34863.1	8p22	2013-08-22	2013-08-22	2013-08-22		ENSG00000158941			23360	protein-coding gene	gene with protein product	"deleted in breast cancer"	607359	"KIAA1967"	KIAA1967		12370419	Standard	NM_021174		Approved	DBC-1, DBC1, NET35	uc003xci.3	Q8N163		ENST00000308511.4:c.1211G>A	8.37:g.22472943G>A	ENSP00000310670:p.Arg404His					KIAA1967_ENST00000389279.3_Missense_Mutation_p.R404H|RP11-582J16.5_ENST00000521025.1_RNA|KIAA1967_ENST00000520861.1_Missense_Mutation_p.R79H	p.R404H			Q8N163	K1967_HUMAN		BRCA - Breast invasive adenocarcinoma(99;0.00593)|Colorectal(74;0.0157)|COAD - Colon adenocarcinoma(73;0.064)	12	1460	+		Prostate(55;0.0421)|Breast(100;0.102)|all_epithelial(46;0.142)	404					A6NL03|B2RB79|D3DSR6|Q6P0Q9|Q8N3G7|Q8N8M1|Q8TF34|Q9H9Q9|Q9HD12|Q9NT55	Missense_Mutation	SNP	ENST00000308511.4	37	c.1211G>A	CCDS34863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	34|34	5.291890|5.291890	0.95546|0.95546	.|.	.|.	ENSG00000158941|ENSG00000158941	ENST00000520738|ENST00000308511;ENST00000389279;ENST00000520861;ENST00000522599	.|T;T;T;T	.|0.51071	.|0.72;0.72;0.72;0.72	5.38|5.38	5.38|5.38	0.77491|0.77491	.|.	.|0.090044	.|0.45126	.|D	.|0.000390	T|T	0.65873|0.65873	0.2733|0.2733	L|L	0.58510|0.58510	1.815|1.815	0.54753|0.54753	D|D	0.99998|0.99998	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.91635	.|0.996;0.999	T|T	0.65841|0.65841	-0.6070|-0.6070	5|10	.|0.59425	.|D	.|0.04	-16.3802|-16.3802	16.6817|16.6817	0.85294|0.85294	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|79;404	.|G3V119;Q8N163	.|.;K1967_HUMAN	T|H	96|404;404;79;222	.|ENSP00000310670:R404H;ENSP00000373930:R404H;ENSP00000429773:R79H;ENSP00000429739:R222H	.|ENSP00000310670:R404H	A|R	+|+	1|2	0|0	KIAA1967|KIAA1967	22528888|22528888	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.967000|0.967000	0.64934|0.64934	8.890000|8.890000	0.92477|0.92477	2.793000|2.793000	0.96121|0.96121	0.655000|0.655000	0.94253|0.94253	GCT|CGC		0.567	CCAR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375865.1	NM_021174		29	68	0	0	0	1	0	29	68					A	22472943	G	A	22472943	3	1	435	1	0	0	0	0	1	0	0	0	8265	1087	38	1	1253	1	KIAA1967	8	22472943	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	7400	22472943	123891079	3958	24883											
BIN3	55909	broad.mit.edu	37	chr8	22481548	22481548	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagtcctcccgcacaggccgCagctcctctcgtgcctaggg	6	7	11	17	3	1	0	0	0	1	0	5	0	4	0	5	2	2	3	5	2	2	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:22481548C>T	ENST00000276416.6	-	8	563	c.495G>A	c.(493-495)ctG>ctA	p.L165L	BIN3_ENST00000399977.4_Silent_p.L117L|BIN3_ENST00000519513.1_Silent_p.L111L|BIN3_ENST00000519335.1_5'UTR	NM_018688.4	NP_061158.1	Q9NQY0	BIN3_HUMAN	bridging integrator 3	165	BAR. {ECO:0000255|PROSITE- ProRule:PRU00361}.				actin filament organization (GO:0007015)|barrier septum assembly (GO:0000917)|cytokinesis (GO:0000910)|myoblast migration involved in skeletal muscle regeneration (GO:0014839)|protein localization (GO:0008104)|regulation of lamellipodium assembly (GO:0010591)|skeletal muscle fiber development (GO:0048741)|unidimensional cell growth (GO:0009826)	actin filament (GO:0005884)|cytoplasm (GO:0005737)	cytoskeletal adaptor activity (GO:0008093)			kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	9		Prostate(55;0.0424)|Breast(100;0.102)|all_epithelial(46;0.143)		BRCA - Breast invasive adenocarcinoma(99;0.00664)|Colorectal(74;0.0189)|COAD - Colon adenocarcinoma(73;0.0727)		GCACAGGCCGCAGCTCCTCTC	0.617																																						ENST00000276416.6																			0				kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	9						c.(493-495)ctG>ctA		bridging integrator 3							29	35	33					8																	22481548		2022	4171	6193	SO:0001819	synonymous_variant	55909				actin filament organization|barrier septum formation|cell cycle|protein localization|unidimensional cell growth	cytoplasm|cytoskeleton	cytoskeletal adaptor activity	g.chr8:22481548C>T		CCDS47825.1	8p21.2	2008-07-04			ENSG00000147439	ENSG00000147439			1054	protein-coding gene	gene with protein product		606396				16524918	Standard	NM_018688		Approved		uc003xcl.3	Q9NQY0	OTTHUMG00000163844	ENST00000276416.6:c.495G>A	8.37:g.22481548C>T						BIN3_ENST00000399977.4_Silent_p.L117L|BIN3_ENST00000519335.1_5'UTR|BIN3_ENST00000519513.1_Silent_p.L111L	p.L165L	NM_018688.4	NP_061158.1	Q9NQY0	BIN3_HUMAN		BRCA - Breast invasive adenocarcinoma(99;0.00664)|Colorectal(74;0.0189)|COAD - Colon adenocarcinoma(73;0.0727)	8	563	-		Prostate(55;0.0424)|Breast(100;0.102)|all_epithelial(46;0.143)	165			BAR.		Q9BVG2|Q9NVY9	Silent	SNP	ENST00000276416.6	37	c.495G>A	CCDS47825.1																																																																																				0.617	BIN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375895.1			13	14	0	0	0	1	0	13	14					T	22481548	C	T	22481548	2	4	435	1	0	0	0	0	0	0	0	1	1434	697	25	3		3	BIN3	8	22481548	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	8605	22481548	123882474	3959	24884											
PEBP4	157310	broad.mit.edu	37	chr8	22584731	22584731	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttccctttcttcaggtcggcGccctgaaagaagagacaagc	10	9	10	12	2	2	3	1	1	1	2	4	4	3	3	2	2	1	0	2	2	3	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:22584731G>A	ENST00000256404.6	-	5	451	c.360C>T	c.(358-360)ggC>ggT	p.G120G	RP11-459E5.1_ENST00000523627.1_RNA	NM_144962.2	NP_659399.2	Q96S96	PEBP4_HUMAN	phosphatidylethanolamine-binding protein 4	120						extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)		p.G120G(1)		breast(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)|stomach(2)	10		Prostate(55;0.0453)|Breast(100;0.103)		Colorectal(74;0.0434)|COAD - Colon adenocarcinoma(73;0.124)		TCAGGTCGGCGCCCTGAAAGA	0.572																																						ENST00000256404.6																			1	Substitution - coding silent(1)	p.G120G(1)	large_intestine(1)	breast(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)|stomach(2)	10						c.(358-360)ggC>ggT		phosphatidylethanolamine-binding protein 4							53	60	58					8																	22584731		1990	4147	6137	SO:0001819	synonymous_variant	157310					lysosome		g.chr8:22584731G>A	BC020779	CCDS43724.1	8p21.3	2009-08-13			ENSG00000134020	ENSG00000134020			28319	protein-coding gene	gene with protein product	"cousin-of-RKIP 1 protein"	612473				15302887, 16865237	Standard	NM_144962		Approved	MGC22776, CORK1, hPEBP4	uc003xcn.1	Q96S96	OTTHUMG00000163749	ENST00000256404.6:c.360C>T	8.37:g.22584731G>A						RP11-459E5.1_ENST00000523627.1_RNA	p.G120G	NM_144962.2	NP_659399.2	Q96S96	PEBP4_HUMAN		Colorectal(74;0.0434)|COAD - Colon adenocarcinoma(73;0.124)	5	451	-		Prostate(55;0.0453)|Breast(100;0.103)	120					Q5EVA1|Q8WW74	Silent	SNP	ENST00000256404.6	37	c.360C>T	CCDS43724.1																																																																																				0.572	PEBP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375141.2	NM_144962		10	6	0	0	0	1	0	10	6					A	22584731	G	A	22584731	2	1	435	1	0	0	0	0	0	0	0	1	11714	1074	38	1		1	PEBP4	8	22584731	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	103183	22584731	123779291	3960	24885											
RHOBTB2	23221	broad.mit.edu	37	chr8	22862091	22862091	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagtaccagctgctggccacGcatgtgcccacagtatgggc	8	7	12	14	1	0	0	0	0	0	0	0	0	0	0	3	2	4	5	3	2	2	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:22862091G>A	ENST00000251822.6	+	2	681	c.144G>A	c.(142-144)acG>acA	p.T48T	RHOBTB2_ENST00000522948.1_Silent_p.T55T|RHOBTB2_ENST00000519685.1_Silent_p.T70T|RP11-875O11.1_ENST00000523884.1_RNA|RHOBTB2_ENST00000523918.1_3'UTR|RP11-875O11.1_ENST00000502083.2_RNA	NM_015178.2	NP_055993.2	Q9BYZ6	RHBT2_HUMAN	Rho-related BTB domain containing 2	48	Rho-like.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	31		Prostate(55;0.0513)|Breast(100;0.214)		Colorectal(74;0.0157)|COAD - Colon adenocarcinoma(73;0.064)		TGCTGGCCACGCATGTGCCCA	0.617											OREG0018628	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000251822.6																			0				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	31						c.(142-144)acG>acA		Rho-related BTB domain containing 2							81	67	72					8																	22862091		2203	4300	6503	SO:0001819	synonymous_variant	23221				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding	g.chr8:22862091G>A	AF315385	CCDS6034.1, CCDS55210.1, CCDS55211.1	8p21.2	2013-01-08			ENSG00000008853	ENSG00000008853		"BTB/POZ domain containing"	18756	protein-coding gene	gene with protein product		607352				11222756	Standard	NM_001160036		Approved	KIAA0717, DBC2	uc011kzp.1	Q9BYZ6	OTTHUMG00000097827	ENST00000251822.6:c.144G>A	8.37:g.22862091G>A			OREG0018628	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	759	RHOBTB2_ENST00000519685.1_Silent_p.T70T|RHOBTB2_ENST00000522948.1_Silent_p.T55T|RHOBTB2_ENST00000523918.1_3'UTR|RP11-875O11.1_ENST00000523884.1_RNA	p.T48T	NM_015178.2	NP_055993.2	Q9BYZ6	RHBT2_HUMAN		Colorectal(74;0.0157)|COAD - Colon adenocarcinoma(73;0.064)	2	681	+		Prostate(55;0.0513)|Breast(100;0.214)	48			Rho-like.		A8K9Z8|D3DSR8|E9PBU2|E9PEI7|O94825|Q8N4A8|Q9BZK6	Silent	SNP	ENST00000251822.6	37	c.144G>A	CCDS6034.1																																																																																				0.617	RHOBTB2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000215101.2			7	15	0	0	0	1	0	7	15					A	22862091	G	A	22862091	2	1	435	1	0	0	0	0	0	0	0	1	13334	1074	38	1		1	RHOBTB2	8	22862091	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	277360	22862091	123501931	3961	24886											
RHOBTB2	23221	broad.mit.edu	37	chr8	22872264	22872264	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atggtggacatcgatggggaCgtccttgtgttcctggaact	7	12	14	8	2	0	0	0	0	0	0	3	4	2	3	2	5	1	1	2	5	1	2	rs561833683		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:22872264C>T	ENST00000251822.6	+	8	2370	c.1833C>T	c.(1831-1833)gaC>gaT	p.D611D	RHOBTB2_ENST00000522948.1_Silent_p.D618D|RHOBTB2_ENST00000519685.1_Silent_p.D633D|RP11-875O11.1_ENST00000502083.2_RNA	NM_015178.2	NP_055993.2	Q9BYZ6	RHBT2_HUMAN	Rho-related BTB domain containing 2	611					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	31		Prostate(55;0.0513)|Breast(100;0.214)		Colorectal(74;0.0157)|COAD - Colon adenocarcinoma(73;0.064)		TCGATGGGGACGTCCTTGTGT	0.547											OREG0018629	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C|||	1	0.000199681	0	0	5008	,	,		20793	0		0	False		,,,				2504	0.001					ENST00000251822.6																			0				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	31						c.(1831-1833)gaC>gaT		Rho-related BTB domain containing 2							198	139	159					8																	22872264		2203	4300	6503	SO:0001819	synonymous_variant	23221				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding	g.chr8:22872264C>T	AF315385	CCDS6034.1, CCDS55210.1, CCDS55211.1	8p21.2	2013-01-08			ENSG00000008853	ENSG00000008853		"BTB/POZ domain containing"	18756	protein-coding gene	gene with protein product		607352				11222756	Standard	NM_001160036		Approved	KIAA0717, DBC2	uc011kzp.1	Q9BYZ6	OTTHUMG00000097827	ENST00000251822.6:c.1833C>T	8.37:g.22872264C>T			OREG0018629	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	759	RP11-875O11.1_ENST00000502083.2_RNA|RHOBTB2_ENST00000519685.1_Silent_p.D633D|RHOBTB2_ENST00000522948.1_Silent_p.D618D	p.D611D	NM_015178.2	NP_055993.2	Q9BYZ6	RHBT2_HUMAN		Colorectal(74;0.0157)|COAD - Colon adenocarcinoma(73;0.064)	8	2370	+		Prostate(55;0.0513)|Breast(100;0.214)	611					A8K9Z8|D3DSR8|E9PBU2|E9PEI7|O94825|Q8N4A8|Q9BZK6	Silent	SNP	ENST00000251822.6	37	c.1833C>T	CCDS6034.1																																																																																				0.547	RHOBTB2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000215101.2			8	8	0	0	0	1	0	8	8					T	22872264	C	T	22872264	2	4	435	1	0	0	0	0	0	0	0	1	13334	535	19	1		1	RHOBTB2	8	22872264	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	10173	22872264	123491758	3962	24887											
TNFRSF10C	8794	broad.mit.edu	37	chr8	22974492	22974492	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctcttctcattacctctcatGcaccatcgtagggatcatag	9	13	6	13	1	4	0	3	0	3	0	7	1	4	1	2	1	2	2	2	1	3	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:22974492G>A	ENST00000356864.3	+	5	1260	c.728G>A	c.(727-729)tGc>tAc	p.C243Y	TNFRSF10C_ENST00000540813.1_Missense_Mutation_p.C141Y	NM_003841.3	NP_003832	O14798	TR10C_HUMAN	tumor necrosis factor receptor superfamily, member 10c, decoy without an intracellular domain	243					apoptotic process (GO:0006915)|signal transduction (GO:0007165)	anchored component of membrane (GO:0031225)|integral component of plasma membrane (GO:0005887)	transmembrane signaling receptor activity (GO:0004888)			endometrium(1)|large_intestine(6)|lung(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	15		Prostate(55;0.0421)|Breast(100;0.067)		Colorectal(74;0.0147)|COAD - Colon adenocarcinoma(73;0.0612)		TACCTCTCATGCACCATCGTA	0.493																																						ENST00000356864.3																			0				endometrium(1)|large_intestine(6)|lung(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	15						c.(727-729)tGc>tAc		tumor necrosis factor receptor superfamily, member 10c, decoy without an intracellular domain							146	155	152					8																	22974492		2203	4300	6503	SO:0001583	missense	8794				apoptosis	anchored to membrane|integral to plasma membrane	TRAIL binding|transmembrane receptor activity	g.chr8:22974492G>A	AF012536	CCDS6037.1	8p22-p21	2006-02-22			ENSG00000173535	ENSG00000173535		"Tumor necrosis factor receptor superfamily", "CD molecules"	11906	protein-coding gene	gene with protein product		603613				9314565, 9325248	Standard	NM_003841		Approved	DcR1, TRAILR3, LIT, TRID, CD263	uc003xcy.3	O14798	OTTHUMG00000097844	ENST00000356864.3:c.728G>A	8.37:g.22974492G>A	ENSP00000349324:p.Cys243Tyr					TNFRSF10C_ENST00000540813.1_Missense_Mutation_p.C141Y	p.C243Y	NM_003841.3	NP_003832.2	O14798	TR10C_HUMAN		Colorectal(74;0.0147)|COAD - Colon adenocarcinoma(73;0.0612)	5	1260	+		Prostate(55;0.0421)|Breast(100;0.067)	243					O14755|Q08AS6|Q6FH98|Q6UXM5	Missense_Mutation	SNP	ENST00000356864.3	37	c.728G>A	CCDS6037.1	.	.	.	.	.	.	.	.	.	.	G	0.171	-1.071034	0.01918	.	.	ENSG00000173535	ENST00000356864;ENST00000540813;ENST00000544885	T;T	0.63096	-0.02;1.17	0.235	0.235	0.15431	.	7739.210000	0.00166	U	0.000002	T	0.60753	0.2293	N	0.14661	0.345	0.09310	N	1	P	0.51240	0.943	P	0.58013	0.831	T	0.53830	-0.8383	9	0.87932	D	0	.	.	.	.	.	243	O14798	TR10C_HUMAN	Y	243;141;243	ENSP00000349324:C243Y;ENSP00000437612:C141Y	ENSP00000349324:C243Y	C	+	2	0	TNFRSF10C	23030437	0.000000	0.05858	0.006000	0.13384	0.006000	0.05464	0.156000	0.16382	0.308000	0.22923	0.313000	0.20887	TGC		0.493	TNFRSF10C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215134.3			38	83	0	0	0	1	0	38	83					A	22974492	G	A	22974492	3	1	435	1	0	0	0	0	1	0	0	0	16279	1319	46	3	746	3	TNFRSF10C	8	22974492	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	102228	22974492	123389530	3963	24888											
LOXL2	4017	broad.mit.edu	37	chr8	23177435	23177435	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgaatcccaggcccagctggCggcagaccaccatggcctcc	8	4	11	18	2	0	1	0	0	0	1	2	2	2	1	6	4	1	2	6	4	1	0	rs371856463		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:23177435C>T	ENST00000389131.3	-	8	1802	c.1433G>A	c.(1432-1434)cGc>cAc	p.R478H		NM_002318.2	NP_002309.1	Q9Y4K0	LOXL2_HUMAN	lysyl oxidase-like 2	478	SRCR 4. {ECO:0000255|PROSITE- ProRule:PRU00196}.				aging (GO:0007568)|cell adhesion (GO:0007155)|cellular protein modification process (GO:0006464)|collagen fibril organization (GO:0030199)|endothelial cell migration (GO:0043542)|endothelial cell proliferation (GO:0001935)|epithelial to mesenchymal transition (GO:0001837)|histone modification (GO:0016570)|negative regulation of transcription, DNA-templated (GO:0045892)|oxidation-reduction process (GO:0055114)|positive regulation of chondrocyte differentiation (GO:0032332)|protein deamination (GO:0018277)|response to copper ion (GO:0046688)|response to hypoxia (GO:0001666)|sprouting angiogenesis (GO:0002040)|transcription, DNA-templated (GO:0006351)	basement membrane (GO:0005604)|chromosome (GO:0005694)|extracellular space (GO:0005615)|membrane (GO:0016020)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|electron carrier activity (GO:0009055)|methylated histone binding (GO:0035064)|oligosaccharide binding (GO:0070492)|protein-lysine 6-oxidase activity (GO:0004720)|scavenger receptor activity (GO:0005044)|transcription corepressor activity (GO:0003714)			breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(5)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(55;0.0453)|Breast(100;0.143)		Colorectal(74;0.0288)|COAD - Colon adenocarcinoma(73;0.096)		GCCCAGCTGGCGGCAGACCAC	0.642																																						ENST00000389131.3																			0				breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(5)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						c.(1432-1434)cGc>cAc		lysyl oxidase-like 2		C	HIS/ARG	0,4406		0,0,2203	104	88	94		1433	5.1	1	8		94	2,8598	2.2+/-6.3	0,2,4298	no	missense	LOXL2	NM_002318.2	29	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	probably-damaging	478/775	23177435	2,13004	2203	4300	6503	SO:0001583	missense	4017				aging|cell adhesion|protein modification process	extracellular space|membrane	copper ion binding|electron carrier activity|oxidoreductase activity, acting on the CH-NH2 group of donors, oxygen as acceptor|scavenger receptor activity	g.chr8:23177435C>T	U89942	CCDS34864.1	8p21.3	2008-05-15				ENSG00000134013			6666	protein-coding gene	gene with protein product		606663				9722957	Standard	NM_002318		Approved	WS9-14	uc003xdh.1	Q9Y4K0		ENST00000389131.3:c.1433G>A	8.37:g.23177435C>T	ENSP00000373783:p.Arg478His						p.R478H	NM_002318.2	NP_002309.1	Q9Y4K0	LOXL2_HUMAN		Colorectal(74;0.0288)|COAD - Colon adenocarcinoma(73;0.096)	8	1802	-		Prostate(55;0.0453)|Breast(100;0.143)	478			SRCR 4.		B2R5Q0|Q53HV3|Q9BW70|Q9Y5Y8	Missense_Mutation	SNP	ENST00000389131.3	37	c.1433G>A	CCDS34864.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	35|35	5.569787|5.569787	0.96540|0.96540	0.0|0.0	2.33E-4|2.33E-4	ENSG00000134013|ENSG00000134013	ENST00000520349|ENST00000389131	.|T	.|0.42900	.|0.96	5.12|5.12	5.12|5.12	0.69794|0.69794	.|Speract/scavenger receptor (2);Speract/scavenger receptor-related (2);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.71728|0.71728	0.3374|0.3374	M|M	0.90595|0.90595	3.13|3.13	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.97110	.|1.0;1.0	T|T	0.78623|0.78623	-0.2132|-0.2132	5|10	.|0.87932	.|D	.|0	.|.	17.5083|17.5083	0.87753|0.87753	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|478;478	.|B2R5Q0;Q9Y4K0	.|.;LOXL2_HUMAN	T|H	195|478	.|ENSP00000373783:R478H	.|ENSP00000373783:R478H	A|R	-|-	1|2	0|0	LOXL2|LOXL2	23233380|23233380	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	7.768000|7.768000	0.85345|0.85345	2.518000|2.518000	0.84900|0.84900	0.650000|0.650000	0.86243|0.86243	GCC|CGC		0.642	LOXL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375603.1			12	17	0	0	0	1	0	12	17					T	23177435	C	T	23177435	3	4	435	1	0	0	0	0	1	0	0	0	8900	768	27	1	919	1	LOXL2	8	23177435	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	202943	23177435	123186587	3964	24889											
LOXL2	4017	broad.mit.edu	37	chr8	23225613	23225613	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tggatggagaagtcgtcatcGcacacggtgccccactggcc	8	7	13	13	3	1	1	1	0	0	1	3	3	1	2	3	4	1	1	3	4	1	0	rs137863437		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:23225613G>A	ENST00000389131.3	-	2	621	c.252C>T	c.(250-252)tgC>tgT	p.C84C	RP11-177H13.2_ENST00000519692.1_RNA	NM_002318.2	NP_002309.1	Q9Y4K0	LOXL2_HUMAN	lysyl oxidase-like 2	84	SRCR 1. {ECO:0000255|PROSITE- ProRule:PRU00196}.				aging (GO:0007568)|cell adhesion (GO:0007155)|cellular protein modification process (GO:0006464)|collagen fibril organization (GO:0030199)|endothelial cell migration (GO:0043542)|endothelial cell proliferation (GO:0001935)|epithelial to mesenchymal transition (GO:0001837)|histone modification (GO:0016570)|negative regulation of transcription, DNA-templated (GO:0045892)|oxidation-reduction process (GO:0055114)|positive regulation of chondrocyte differentiation (GO:0032332)|protein deamination (GO:0018277)|response to copper ion (GO:0046688)|response to hypoxia (GO:0001666)|sprouting angiogenesis (GO:0002040)|transcription, DNA-templated (GO:0006351)	basement membrane (GO:0005604)|chromosome (GO:0005694)|extracellular space (GO:0005615)|membrane (GO:0016020)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|electron carrier activity (GO:0009055)|methylated histone binding (GO:0035064)|oligosaccharide binding (GO:0070492)|protein-lysine 6-oxidase activity (GO:0004720)|scavenger receptor activity (GO:0005044)|transcription corepressor activity (GO:0003714)			breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(5)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(55;0.0453)|Breast(100;0.143)		Colorectal(74;0.0288)|COAD - Colon adenocarcinoma(73;0.096)		AGTCGTCATCGCACACGGTGC	0.647													G|||	1	0.000199681	0	0	5008	,	,		18572	0		0	False		,,,				2504	0.001					ENST00000389131.3																			0				breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(5)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						c.(250-252)tgC>tgT		lysyl oxidase-like 2		G		0,4406		0,0,2203	97	74	82		252	-1.7	0.7	8	dbSNP_134	82	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	LOXL2	NM_002318.2		0,2,6501	AA,AG,GG		0.0233,0.0,0.0154		84/775	23225613	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	4017				aging|cell adhesion|protein modification process	extracellular space|membrane	copper ion binding|electron carrier activity|oxidoreductase activity, acting on the CH-NH2 group of donors, oxygen as acceptor|scavenger receptor activity	g.chr8:23225613G>A	U89942	CCDS34864.1	8p21.3	2008-05-15				ENSG00000134013			6666	protein-coding gene	gene with protein product		606663				9722957	Standard	NM_002318		Approved	WS9-14	uc003xdh.1	Q9Y4K0		ENST00000389131.3:c.252C>T	8.37:g.23225613G>A							p.C84C	NM_002318.2	NP_002309.1	Q9Y4K0	LOXL2_HUMAN		Colorectal(74;0.0288)|COAD - Colon adenocarcinoma(73;0.096)	2	621	-		Prostate(55;0.0453)|Breast(100;0.143)	84			SRCR 1.		B2R5Q0|Q53HV3|Q9BW70|Q9Y5Y8	Silent	SNP	ENST00000389131.3	37	c.252C>T	CCDS34864.1																																																																																				0.647	LOXL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375603.1			18	34	0	0	0	1	0	18	34					A	23225613	G	A	23225613	2	1	435	1	0	0	0	0	0	0	0	1	8900	1079	38	1		1	LOXL2	8	23225613	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	48178	23225613	123138409	3965	24890											
ENTPD4	9583	broad.mit.edu	37	chr8	23290518	23290518	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccgagctgctccggggagtgCgcctgtggatgcgccgcagc	4	6	17	14	5	0	0	0	0	0	0	1	3	1	2	4	3	5	3	4	3	0	0	rs200186299	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:23290518C>T	ENST00000358689.4	-	13	2007	c.1772G>A	c.(1771-1773)cGc>cAc	p.R591H	ENTPD4_ENST00000521321.1_Intron|ENTPD4_ENST00000356206.6_Intron|ENTPD4_ENST00000417069.2_Missense_Mutation_p.R583H	NM_001128930.2|NM_004901.4	NP_001122402.1|NP_004892.1	Q9Y227	ENTP4_HUMAN	ectonucleoside triphosphate diphosphohydrolase 4	591					UDP catabolic process (GO:0006256)	cytoplasmic vesicle (GO:0031410)|integral component of Golgi membrane (GO:0030173)|intracellular membrane-bounded organelle (GO:0043231)	uridine-diphosphatase activity (GO:0045134)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	25		Prostate(55;0.114)		Colorectal(74;0.0161)|COAD - Colon adenocarcinoma(73;0.0649)		CCGGGGAGTGCGCCTGTGGAT	0.647													C|||	7	0.00139776	0	0	5008	,	,		12526	0.006		0	False		,,,				2504	0.001					ENST00000358689.4																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	25						c.(1771-1773)cGc>cAc		ectonucleoside triphosphate diphosphohydrolase 4		C	HIS/ARG,HIS/ARG	2,4404	4.2+/-10.8	0,2,2201	35	38	37		1748,1772	5.7	0	8		37	2,8598	2.2+/-6.3	0,2,4298	yes	missense,missense	ENTPD4	NM_001128930.2,NM_004901.4	29,29	0,4,6499	TT,TC,CC		0.0233,0.0454,0.0308	probably-damaging,probably-damaging	583/609,591/617	23290518	4,13002	2203	4300	6503	SO:0001583	missense	9583				UDP catabolic process	autophagic vacuole membrane|cytoplasmic vesicle|integral to Golgi membrane	uridine-diphosphatase activity	g.chr8:23290518C>T	AJ131358	CCDS6041.1, CCDS47827.1	8p21.3	2014-05-16	2004-09-22	2004-09-22	ENSG00000197217	ENSG00000197217			14573	protein-coding gene	gene with protein product		607577	"lysosomal apyrase-like 1"	LYSAL1		10393803, 9205841	Standard	NM_001128930		Approved	LALP70, LAP70, KIAA0392, NTPDase-4, UDPase	uc003xdl.3	Q9Y227	OTTHUMG00000097852	ENST00000358689.4:c.1772G>A	8.37:g.23290518C>T	ENSP00000351520:p.Arg591His					ENTPD4_ENST00000521321.1_Intron|ENTPD4_ENST00000417069.2_Missense_Mutation_p.R583H|ENTPD4_ENST00000356206.6_Intron	p.R591H	NM_001128930.2|NM_004901.4	NP_001122402.1|NP_004892.1	Q9Y227	ENTP4_HUMAN		Colorectal(74;0.0161)|COAD - Colon adenocarcinoma(73;0.0649)	13	2007	-		Prostate(55;0.114)	591					D3DSS3|O15092	Missense_Mutation	SNP	ENST00000358689.4	37	c.1772G>A	CCDS6041.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	36	5.644293	0.96704	4.54E-4	2.33E-4	ENSG00000197217	ENST00000358689;ENST00000417069	T;T	0.17213	2.3;2.29	5.68	5.68	0.88126	.	0.404849	0.26103	N	0.026331	T	0.43634	0.1256	M	0.72894	2.215	0.80722	D	1	D;D	0.89917	1.0;0.968	D;P	0.75020	0.985;0.717	T	0.25537	-1.0129	10	0.72032	D	0.01	-4.8996	18.3625	0.90379	0.0:1.0:0.0:0.0	.	583;591	Q9Y227-2;Q9Y227	.;ENTP4_HUMAN	H	591;583	ENSP00000351520:R591H;ENSP00000408573:R583H	ENSP00000351520:R591H	R	-	2	0	ENTPD4	23346463	0.996000	0.38824	0.018000	0.16275	0.127000	0.20565	5.999000	0.70665	2.687000	0.91594	0.563000	0.77884	CGC		0.647	ENTPD4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000215142.1	NM_004901		8	8	0	0	0	1	0	8	8					T	23290518	C	T	23290518	3	4	435	1	0	0	0	0	1	0	0	0	5141	768	27	1	82	1	ENTPD4	8	23290518	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	64905	23290518	123073504	3966	24891											
ENTPD4	9583	broad.mit.edu	37	chr8	23297339	23297339	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttgccaccaaacccaagaaaCgtggccacatagactcgata	15	6	7	13	2	0	2	0	0	0	2	1	3	0	2	4	1	3	0	4	1	5	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:23297339C>T	ENST00000358689.4	-	9	1207	c.972G>A	c.(970-972)acG>acA	p.T324T	ENTPD4_ENST00000521321.1_5'Flank|ENTPD4_ENST00000356206.6_Silent_p.T316T|ENTPD4_ENST00000417069.2_Silent_p.T316T	NM_001128930.2|NM_004901.4	NP_001122402.1|NP_004892.1	Q9Y227	ENTP4_HUMAN	ectonucleoside triphosphate diphosphohydrolase 4	324					UDP catabolic process (GO:0006256)	cytoplasmic vesicle (GO:0031410)|integral component of Golgi membrane (GO:0030173)|intracellular membrane-bounded organelle (GO:0043231)	uridine-diphosphatase activity (GO:0045134)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	25		Prostate(55;0.114)		Colorectal(74;0.0161)|COAD - Colon adenocarcinoma(73;0.0649)		ACCCAAGAAACGTGGCCACAT	0.423																																						ENST00000358689.4																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	25						c.(970-972)acG>acA		ectonucleoside triphosphate diphosphohydrolase 4							187	163	171					8																	23297339		2203	4300	6503	SO:0001819	synonymous_variant	9583				UDP catabolic process	autophagic vacuole membrane|cytoplasmic vesicle|integral to Golgi membrane	uridine-diphosphatase activity	g.chr8:23297339C>T	AJ131358	CCDS6041.1, CCDS47827.1	8p21.3	2014-05-16	2004-09-22	2004-09-22	ENSG00000197217	ENSG00000197217			14573	protein-coding gene	gene with protein product		607577	"lysosomal apyrase-like 1"	LYSAL1		10393803, 9205841	Standard	NM_001128930		Approved	LALP70, LAP70, KIAA0392, NTPDase-4, UDPase	uc003xdl.3	Q9Y227	OTTHUMG00000097852	ENST00000358689.4:c.972G>A	8.37:g.23297339C>T						ENTPD4_ENST00000417069.2_Silent_p.T316T|ENTPD4_ENST00000356206.6_Silent_p.T316T	p.T324T	NM_001128930.2|NM_004901.4	NP_001122402.1|NP_004892.1	Q9Y227	ENTP4_HUMAN		Colorectal(74;0.0161)|COAD - Colon adenocarcinoma(73;0.0649)	9	1207	-		Prostate(55;0.114)	324					D3DSS3|O15092	Silent	SNP	ENST00000358689.4	37	c.972G>A	CCDS6041.1																																																																																				0.423	ENTPD4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000215142.1	NM_004901		26	35	0	0	0	1	0	26	35					T	23297339	C	T	23297339	2	4	435	1	0	0	0	0	0	0	0	1	5141	523	19	1		1	ENTPD4	8	23297339	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	6821	23297339	123066683	3967	24892											
SLC25A37	51312	broad.mit.edu	37	chr8	23423701	23423701	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcaagaaaatcatgcggacCgaaggcttctggaggccctt	11	8	11	11	2	3	1	2	0	1	1	3	4	3	3	2	4	1	1	2	4	4	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:23423701C>T	ENST00000519973.1	+	2	489	c.291C>T	c.(289-291)acC>acT	p.T97T	SLC25A37_ENST00000517923.1_3'UTR	NM_016612.2	NP_057696.2	Q9NYZ2	MFRN1_HUMAN	solute carrier family 25 (mitochondrial iron transporter), member 37	97					iron ion homeostasis (GO:0055072)|mitochondrial iron ion transport (GO:0048250)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)	iron ion transmembrane transporter activity (GO:0005381)			NS(1)|endometrium(3)|large_intestine(2)|lung(8)|urinary_tract(1)	15		Prostate(55;0.114)		Colorectal(74;0.0198)|COAD - Colon adenocarcinoma(73;0.0751)		TCATGCGGACCGAAGGCTTCT	0.532																																						ENST00000519973.1																			0				NS(1)|endometrium(3)|large_intestine(2)|lung(8)|urinary_tract(1)	15						c.(289-291)acC>acT		solute carrier family 25 (mitochondrial iron transporter), member 37							56	53	54					8																	23423701		1890	4110	6000	SO:0001819	synonymous_variant	51312				ion transport|iron ion homeostasis	integral to membrane|mitochondrial inner membrane		g.chr8:23423701C>T	AF495725	CCDS47828.1	8p21.2	2013-05-22	2012-03-29		ENSG00000147454	ENSG00000147454		"Solute carriers"	29786	protein-coding gene	gene with protein product	"mitoferrin"	610387	"solute carrier family 25, member 37"			16511496	Standard	XM_006716352		Approved	MSCP, MFRN, MFRN1	uc003xdo.3	Q9NYZ2	OTTHUMG00000163865	ENST00000519973.1:c.291C>T	8.37:g.23423701C>T						SLC25A37_ENST00000517923.1_3'UTR	p.T97T	NM_016612.2	NP_057696.2	Q9NYZ2	MFRN1_HUMAN		Colorectal(74;0.0198)|COAD - Colon adenocarcinoma(73;0.0751)	2	489	+		Prostate(55;0.114)	97					A2RU93|Q53FT7|Q69YJ8|Q969S1|Q9P0J2	Silent	SNP	ENST00000519973.1	37	c.291C>T	CCDS47828.1																																																																																				0.532	SLC25A37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376039.1	NM_016612		16	21	0	0	0	1	0	16	21					T	23423701	C	T	23423701	2	4	435	1	0	0	0	0	0	0	0	1	14501	639	23	2		2	SLC25A37	8	23423701	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	126362	23423701	122940321	3968	24893											
SLC25A37	51312	broad.mit.edu	37	chr8	23423843	23423843	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accaaggaaacagccacctaGccaacggtattttgaaagcg	15	6	9	11	2	0	1	0	1	0	0	0	2	0	2	4	2	5	1	4	2	6	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:23423843G>A	ENST00000519973.1	+	2	631	c.433G>A	c.(433-435)Gcc>Acc	p.A145T	SLC25A37_ENST00000517923.1_3'UTR	NM_016612.2	NP_057696.2	Q9NYZ2	MFRN1_HUMAN	solute carrier family 25 (mitochondrial iron transporter), member 37	145					iron ion homeostasis (GO:0055072)|mitochondrial iron ion transport (GO:0048250)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)	iron ion transmembrane transporter activity (GO:0005381)			NS(1)|endometrium(3)|large_intestine(2)|lung(8)|urinary_tract(1)	15		Prostate(55;0.114)		Colorectal(74;0.0198)|COAD - Colon adenocarcinoma(73;0.0751)		CAGCCACCTAGCCAACGGTAT	0.507																																						ENST00000519973.1																			0				NS(1)|endometrium(3)|large_intestine(2)|lung(8)|urinary_tract(1)	15						c.(433-435)Gcc>Acc		solute carrier family 25 (mitochondrial iron transporter), member 37							77	76	76					8																	23423843		1959	4145	6104	SO:0001583	missense	51312				ion transport|iron ion homeostasis	integral to membrane|mitochondrial inner membrane		g.chr8:23423843G>A	AF495725	CCDS47828.1	8p21.2	2013-05-22	2012-03-29		ENSG00000147454	ENSG00000147454		"Solute carriers"	29786	protein-coding gene	gene with protein product	"mitoferrin"	610387	"solute carrier family 25, member 37"			16511496	Standard	XM_006716352		Approved	MSCP, MFRN, MFRN1	uc003xdo.3	Q9NYZ2	OTTHUMG00000163865	ENST00000519973.1:c.433G>A	8.37:g.23423843G>A	ENSP00000429200:p.Ala145Thr					SLC25A37_ENST00000517923.1_3'UTR	p.A145T	NM_016612.2	NP_057696.2	Q9NYZ2	MFRN1_HUMAN		Colorectal(74;0.0198)|COAD - Colon adenocarcinoma(73;0.0751)	2	631	+		Prostate(55;0.114)	145					A2RU93|Q53FT7|Q69YJ8|Q969S1|Q9P0J2	Missense_Mutation	SNP	ENST00000519973.1	37	c.433G>A	CCDS47828.1	.	.	.	.	.	.	.	.	.	.	G	33	5.236609	0.95240	.	.	ENSG00000147454	ENST00000519973;ENST00000523930	T;T	0.79749	-1.3;-1.18	5.63	5.63	0.86233	Mitochondrial carrier domain (2);	0.000000	0.85682	D	0.000000	D	0.88153	0.6360	M	0.64997	1.995	0.80722	D	1	D;D	0.69078	0.974;0.997	P;D	0.69142	0.877;0.962	D	0.87641	0.2522	10	0.49607	T	0.09	-2.548	18.2734	0.90076	0.0:0.0:1.0:0.0	.	145;145	Q9NYZ2;Q9NYZ2-2	MFRN1_HUMAN;.	T	145;126	ENSP00000429200:A145T;ENSP00000428066:A126T	ENSP00000290075:A145T	A	+	1	0	SLC25A37	23479788	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.447000	0.97595	2.652000	0.90054	0.655000	0.94253	GCC		0.507	SLC25A37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376039.1	NM_016612		4	14	0	0	0	1	0	4	14					A	23423843	G	A	23423843	3	1	435	1	0	0	0	0	1	0	0	0	14501	971	34	3	439	3	SLC25A37	8	23423843	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	142	23423843	122940179	3969	24894											
SLC25A37	51312	broad.mit.edu	37	chr8	23429210	23429210	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgggtatggccaatgccttcCggacggtgtaccagctcaac	8	8	12	13	3	1	0	1	0	0	0	2	1	2	1	4	4	4	3	4	4	4	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:23429210C>T	ENST00000519973.1	+	4	1057	c.859C>T	c.(859-861)Cgg>Tgg	p.R287W	FP15737_ENST00000399967.3_5'Flank	NM_016612.2	NP_057696.2	Q9NYZ2	MFRN1_HUMAN	solute carrier family 25 (mitochondrial iron transporter), member 37	287					iron ion homeostasis (GO:0055072)|mitochondrial iron ion transport (GO:0048250)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)	iron ion transmembrane transporter activity (GO:0005381)			NS(1)|endometrium(3)|large_intestine(2)|lung(8)|urinary_tract(1)	15		Prostate(55;0.114)		Colorectal(74;0.0198)|COAD - Colon adenocarcinoma(73;0.0751)		CAATGCCTTCCGGACGGTGTA	0.607																																						ENST00000519973.1																			0				NS(1)|endometrium(3)|large_intestine(2)|lung(8)|urinary_tract(1)	15						c.(859-861)Cgg>Tgg		solute carrier family 25 (mitochondrial iron transporter), member 37							31	34	33					8																	23429210		1971	4138	6109	SO:0001583	missense	51312				ion transport|iron ion homeostasis	integral to membrane|mitochondrial inner membrane		g.chr8:23429210C>T	AF495725	CCDS47828.1	8p21.2	2013-05-22	2012-03-29		ENSG00000147454	ENSG00000147454		"Solute carriers"	29786	protein-coding gene	gene with protein product	"mitoferrin"	610387	"solute carrier family 25, member 37"			16511496	Standard	XM_006716352		Approved	MSCP, MFRN, MFRN1	uc003xdo.3	Q9NYZ2	OTTHUMG00000163865	ENST00000519973.1:c.859C>T	8.37:g.23429210C>T	ENSP00000429200:p.Arg287Trp						p.R287W	NM_016612.2	NP_057696.2	Q9NYZ2	MFRN1_HUMAN		Colorectal(74;0.0198)|COAD - Colon adenocarcinoma(73;0.0751)	4	1057	+		Prostate(55;0.114)	287					A2RU93|Q53FT7|Q69YJ8|Q969S1|Q9P0J2	Missense_Mutation	SNP	ENST00000519973.1	37	c.859C>T	CCDS47828.1	.	.	.	.	.	.	.	.	.	.	C	18.78	3.696408	0.68386	.	.	ENSG00000147454	ENST00000519973	T	0.80909	-1.43	5.8	4.92	0.64577	Mitochondrial carrier domain (2);	0.051108	0.85682	D	0.000000	D	0.91188	0.7224	M	0.91196	3.185	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	D	0.92845	0.6292	10	0.87932	D	0	-9.8826	13.573	0.61858	0.2817:0.7183:0.0:0.0	.	287	Q9NYZ2	MFRN1_HUMAN	W	287	ENSP00000429200:R287W	ENSP00000429200:R287W	R	+	1	2	SLC25A37	23485155	0.998000	0.40836	1.000000	0.80357	0.993000	0.82548	0.615000	0.24329	1.436000	0.47453	0.650000	0.86243	CGG		0.607	SLC25A37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376039.1	NM_016612		14	21	0	0	0	1	0	14	21					T	23429210	C	T	23429210	3	4	435	1	0	0	0	0	1	0	0	0	14501	643	23	2	873	2	SLC25A37	8	23429210	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	5367	23429210	122934812	3970	24895											
ADAM28	10863	broad.mit.edu	37	chr8	24208809	24208809	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaccccagatggtaaaggctGttcaaccccaagaggtgaac	14	6	10	11	0	1	3	1	1	0	2	1	3	1	3	4	3	3	3	4	3	6	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:24208809G>A	ENST00000265769.4	+	20	2274	c.2164G>A	c.(2164-2166)Gtt>Att	p.V722I	RP11-624C23.1_ENST00000523578.1_RNA|RP11-624C23.1_ENST00000518988.1_RNA|RP11-624C23.1_ENST00000523700.1_RNA|ADAM28_ENST00000397649.3_Missense_Mutation_p.C470Y|RP11-624C23.1_ENST00000519689.1_RNA	NM_014265.4	NP_055080.2	Q9UKQ2	ADA28_HUMAN	ADAM metallopeptidase domain 28	722					spermatogenesis (GO:0007283)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Prostate(55;0.0959)		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)		GGTAAAGGCTGTTCAACCCCA	0.453																																					NSCLC(193;488 2149 22258 34798 40734)	ENST00000265769.4																			0				central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						c.(2164-2166)Gtt>Att		ADAM metallopeptidase domain 28							142	131	135					8																	24208809		2203	4300	6503	SO:0001583	missense	10863				proteolysis|spermatogenesis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|zinc ion binding	g.chr8:24208809G>A	AJ242015	CCDS34865.1, CCDS47830.1	8p21.2	2005-11-29	2005-08-18		ENSG00000042980	ENSG00000042980		"ADAM metallopeptidase domain containing"	206	protein-coding gene	gene with protein product		606188	"a disintegrin and metalloproteinase domain 28"				Standard	XM_005273378		Approved	eMDCII, MDC-Lm, MDC-Ls, ADAM23	uc003xdy.3	Q9UKQ2	OTTHUMG00000163780	ENST00000265769.4:c.2164G>A	8.37:g.24208809G>A	ENSP00000265769:p.Val722Ile					RP11-624C23.1_ENST00000519689.1_RNA|ADAM28_ENST00000397649.3_Missense_Mutation_p.C470Y|RP11-624C23.1_ENST00000518988.1_RNA|RP11-624C23.1_ENST00000523578.1_RNA|RP11-624C23.1_ENST00000523700.1_RNA	p.V722I	NM_014265.4	NP_055080.2	Q9UKQ2	ADA28_HUMAN		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)	20	2274	+		Prostate(55;0.0959)	722					B2RMV5|Q9Y339|Q9Y3S0	Missense_Mutation	SNP	ENST00000265769.4	37	c.2164G>A	CCDS34865.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	10.36|10.36	1.328077|1.328077	0.24080|0.24080	.|.	.|.	ENSG00000042980|ENSG00000042980	ENST00000397649;ENST00000521629;ENST00000518326|ENST00000265769	T|T	0.01787|0.01527	4.64|4.8	4.46|4.46	0.542|0.542	0.17174|0.17174	.|.	.|.	.|.	.|.	.|.	T|T	0.01387|0.01387	0.0045|0.0045	N|N	0.24115|0.24115	0.695|0.695	0.09310|0.09310	N|N	1|1	.|B;B	.|0.06786	.|0.001;0.001	.|B;B	.|0.08055	.|0.003;0.003	T|T	0.47674|0.47674	-0.9099|-0.9099	7|9	0.87932|0.30854	D|T	0|0.27	.|.	5.1749|5.1749	0.15129|0.15129	0.1831:0.3221:0.4948:0.0|0.1831:0.3221:0.4948:0.0	.|.	.|722;722	.|B2RMV5;Q9UKQ2	.|.;ADA28_HUMAN	Y|I	470;354;147|722	ENSP00000380770:C470Y|ENSP00000265769:V722I	ENSP00000380770:C470Y|ENSP00000265769:V722I	C|V	+|+	2|1	0|0	ADAM28|ADAM28	24264754|24264754	0.000000|0.000000	0.05858|0.05858	0.005000|0.005000	0.12908|0.12908	0.445000|0.445000	0.32107|0.32107	0.084000|0.084000	0.14891|0.14891	0.086000|0.086000	0.17137|0.17137	0.558000|0.558000	0.71614|0.71614	TGT|GTT		0.453	ADAM28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375441.2	NM_021778		18	27	0	0	0	1	0	18	27					A	24208809	G	A	24208809	3	1	435	1	0	0	0	0	1	0	0	0	246	1377	48	3	2298	3	ADAM28	8	24208809	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	779599	24208809	122155213	3971	24896											
ADAM7	8756	broad.mit.edu	37	chr8	24350743	24350743	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	caaaatgtggagagggaatgGtaagacaaaagccctttgtt	15	9	12	5	0	0	2	0	0	0	2	0	4	0	3	1	3	1	2	1	3	6	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:24350743G>A	ENST00000175238.6	+	16	1925		c.e16+1		ADAM7_ENST00000520720.1_Splice_Site|RP11-624C23.1_ENST00000523578.1_RNA|RP11-561E1.1_ENST00000519364.1_RNA|RP11-624C23.1_ENST00000519689.1_RNA|ADAM7_ENST00000380789.1_Splice_Site	NM_003817.3	NP_003808.2	Q9H2U9	ADAM7_HUMAN	ADAM metallopeptidase domain 7							integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(24)|ovary(1)|skin(15)	64		Prostate(55;0.0181)		Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182)		AGAGGGAATGGTAAGACAAAA	0.358																																						ENST00000175238.6																			0				NS(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(24)|ovary(1)|skin(15)	64						c.e16+1		ADAM metallopeptidase domain 7							68	68	68					8																	24350743		2203	4299	6502	SO:0001630	splice_region_variant	8756				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding	g.chr8:24350743G>A	AF090327	CCDS6045.1	8p21.2	2005-08-18	2005-08-18		ENSG00000069206	ENSG00000069206		"ADAM metallopeptidase domain containing"	214	protein-coding gene	gene with protein product		607310	"a disintegrin and metalloproteinase domain 7"				Standard	NM_003817		Approved	GP-83, EAPI	uc003xeb.3	Q9H2U9	OTTHUMG00000097859	ENST00000175238.6:c.1842+1G>A	8.37:g.24350743G>A						ADAM7_ENST00000380789.1_Splice_Site|RP11-624C23.1_ENST00000519689.1_RNA|ADAM7_ENST00000520720.1_Splice_Site|RP11-561E1.1_ENST00000519364.1_RNA|RP11-624C23.1_ENST00000523578.1_RNA		NM_003817.3	NP_003808.2	Q9H2U9	ADAM7_HUMAN		Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182)	16	1925	+		Prostate(55;0.0181)						A8K8X7|O75959|Q6PEJ6	Splice_Site	SNP	ENST00000175238.6	37		CCDS6045.1	.	.	.	.	.	.	.	.	.	.	G	14.22	2.471626	0.43942	.	.	ENSG00000069206	ENST00000175238;ENST00000380789;ENST00000520720;ENST00000335595	.	.	.	5.64	5.64	0.86602	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.2021	0.86908	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ADAM7	24406633	1.000000	0.71417	1.000000	0.80357	0.316000	0.28119	6.716000	0.74702	2.676000	0.91093	0.557000	0.71058	.		0.358	ADAM7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215150.1	NM_003817	Intron	13	29	0	0	0	1	0	13	29					A	24350743	G	A	24350743	5	1	435	1	0	0	0	0	0	0	1	0	251	1275	44	3	1905	3	ADAM7	8	24350743	Splice_Site	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	141934	24350743	122013279	3972	24897											
DOCK5	80005	broad.mit.edu	37	chr8	25216578	25216578	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaaccagacaagacatcatcGtaagttgcctttactggtcc	13	10	7	11	1	1	2	1	0	0	2	3	2	2	2	3	1	3	2	3	1	4	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:25216578G>A	ENST00000276440.7	+	28	2993		c.e28+1			NM_024940.6	NP_079216.4	Q9H7D0	DOCK5_HUMAN	dedicator of cytokinesis 5						positive regulation of GTPase activity (GO:0043547)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)		AGACATCATCGTAAGTTGCCT	0.458																																					Pancreas(145;34 1887 3271 10937 30165)	ENST00000276440.7																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72						c.e28+1		dedicator of cytokinesis 5							238	209	219					8																	25216578		2203	4300	6503	SO:0001630	splice_region_variant	80005					cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	g.chr8:25216578G>A		CCDS6047.1	8p21.2	2009-04-17			ENSG00000147459	ENSG00000147459			23476	protein-coding gene	gene with protein product						12432077	Standard	NM_024940		Approved	FLJ21034	uc003xeg.3	Q9H7D0	OTTHUMG00000131991	ENST00000276440.7:c.2949+1G>A	8.37:g.25216578G>A								NM_024940.6	NP_079216.4	Q9H7D0	DOCK5_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)	28	2993	+		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)						B2RNY0|Q5XKD5|Q6AI11|Q6PJS6|Q6ZTS6	Splice_Site	SNP	ENST00000276440.7	37		CCDS6047.1	.	.	.	.	.	.	.	.	.	.	G	25.5	4.643231	0.87859	.	.	ENSG00000147459	ENST00000276440;ENST00000444569	.	.	.	5.96	5.96	0.96718	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.9958	0.97383	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	DOCK5	25272495	1.000000	0.71417	0.977000	0.42913	0.883000	0.51084	9.845000	0.99498	2.826000	0.97356	0.655000	0.94253	.		0.458	DOCK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254955.2	NM_024940	Intron	12	64	0	0	0	1	0	12	64					A	25216578	G	A	25216578	5	1	435	1	0	0	0	0	0	0	1	0	4690	1159	40	1	3060	1	DOCK5	8	25216578	Splice_Site	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	865835	25216578	121147444	3973	24898											
DOCK5	80005	broad.mit.edu	37	chr8	25220641	25220641	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaaagattggatggtgatgAatatgactcaaaacaggtga	16	9	11	5	0	1	5	1	4	0	1	1	6	1	6	1	3	1	0	1	3	5	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:25220641A>G	ENST00000276440.7	+	29	3072	c.3028A>G	c.(3028-3030)Aat>Gat	p.N1010D		NM_024940.6	NP_079216.4	Q9H7D0	DOCK5_HUMAN	dedicator of cytokinesis 5	1010					positive regulation of GTPase activity (GO:0043547)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)		GATGGTGATGAATATGACTCA	0.448																																					Pancreas(145;34 1887 3271 10937 30165)	ENST00000276440.7																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72						c.(3028-3030)Aat>Gat		dedicator of cytokinesis 5							135	134	134					8																	25220641		2203	4300	6503	SO:0001583	missense	80005					cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	g.chr8:25220641A>G		CCDS6047.1	8p21.2	2009-04-17			ENSG00000147459	ENSG00000147459			23476	protein-coding gene	gene with protein product						12432077	Standard	NM_024940		Approved	FLJ21034	uc003xeg.3	Q9H7D0	OTTHUMG00000131991	ENST00000276440.7:c.3028A>G	8.37:g.25220641A>G	ENSP00000276440:p.Asn1010Asp						p.N1010D	NM_024940.6	NP_079216.4	Q9H7D0	DOCK5_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)	29	3072	+		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)	1010					B2RNY0|Q5XKD5|Q6AI11|Q6PJS6|Q6ZTS6	Missense_Mutation	SNP	ENST00000276440.7	37	c.3028A>G	CCDS6047.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	18.88|18.88	3.717185|3.717185	0.68844|0.68844	.|.	.|.	ENSG00000147459|ENSG00000147459	ENST00000444569|ENST00000276440	.|T	.|0.41400	.|1.0	5.85|5.85	5.85|5.85	0.93711|0.93711	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.47229|0.47229	0.1434|0.1434	M|M	0.72479|0.72479	2.2|2.2	0.80722|0.80722	D|D	1|1	.|B;P;B	.|0.36647	.|0.389;0.563;0.389	.|B;B;B	.|0.37451	.|0.25;0.171;0.25	T|T	0.48790|0.48790	-0.9004|-0.9004	5|10	.|0.48119	.|T	.|0.1	.|.	16.2291|16.2291	0.82321|0.82321	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|1000;785;1010	.|D3DSS6;Q68DL4;Q9H7D0	.|.;.;DOCK5_HUMAN	G|D	781|1010	.|ENSP00000276440:N1010D	.|ENSP00000276440:N1010D	E|N	+|+	2|1	0|0	DOCK5|DOCK5	25276558|25276558	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.884000|0.884000	0.51177|0.51177	9.281000|9.281000	0.95811|0.95811	2.238000|2.238000	0.73509|0.73509	0.528000|0.528000	0.53228|0.53228	GAA|AAT		0.448	DOCK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254955.2	NM_024940		24	53	0	0	0	1	0	24	53					G	25220641	A	G	25220641	3	3	435	1	0	0	0	0	1	0	0	0	4690	246	9	4	3142	4	DOCK5	8	25220641	Missense_Mutation	SNP	A	TCGA-XK-AAIW-01A-11D-A41K-08	4063	25220641	121143381	3974	24899											
CDCA2	157313	broad.mit.edu	37	chr8	25365068	25365068	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gatccagaaaacagccagggCcctgctgctggttcttccga	9	8	11	13	1	1	1	0	0	1	1	3	3	3	1	4	2	4	3	4	2	2	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:25365068C>T	ENST00000330560.3	+	15	3363	c.2886C>T	c.(2884-2886)ggC>ggT	p.G962G	CDCA2_ENST00000521098.2_3'UTR|CDCA2_ENST00000380665.3_Silent_p.G947G	NM_152562.2	NP_689775.2	Q69YH5	CDCA2_HUMAN	cell division cycle associated 2	962					mitotic nuclear division (GO:0007067)|positive regulation of protein dephosphorylation (GO:0035307)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(3)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(7)|lung(10)|ovary(1)|prostate(3)	35		all_cancers(63;0.0378)|Ovarian(32;0.000878)|all_epithelial(46;0.0162)|Breast(100;0.0164)|Prostate(55;0.191)		UCEC - Uterine corpus endometrioid carcinoma (27;0.022)|Epithelial(17;1.37e-11)|Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0443)		ACAGCCAGGGCCCTGCTGCTG	0.478																																						ENST00000330560.3																			0				breast(3)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(7)|lung(10)|ovary(1)|prostate(3)	35						c.(2884-2886)ggC>ggT		cell division cycle associated 2							172	192	185					8																	25365068		2203	4300	6503	SO:0001819	synonymous_variant	157313				cell division|mitosis	cytoplasm|nucleus		g.chr8:25365068C>T	BG354575	CCDS6049.1	8p21.2	2014-06-12			ENSG00000184661	ENSG00000184661			14623	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 81"					12188893, 16492807	Standard	NM_152562		Approved	Repo-Man, PPP1R81	uc003xep.1	Q69YH5	OTTHUMG00000099429	ENST00000330560.3:c.2886C>T	8.37:g.25365068C>T						CDCA2_ENST00000521098.2_3'UTR|CDCA2_ENST00000380665.3_Silent_p.G947G	p.G962G	NM_152562.2	NP_689775.2	Q69YH5	CDCA2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.022)|Epithelial(17;1.37e-11)|Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0443)	15	3363	+		all_cancers(63;0.0378)|Ovarian(32;0.000878)|all_epithelial(46;0.0162)|Breast(100;0.0164)|Prostate(55;0.191)	962					Q3SX74|Q4G0W0|Q5RKN0|Q69YI4|Q6P464|Q8N7C1	Silent	SNP	ENST00000330560.3	37	c.2886C>T	CCDS6049.1																																																																																				0.478	CDCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216891.3	NM_152562		87	136	0	0	0	1	0	87	136					T	25365068	C	T	25365068	2	4	435	1	0	0	0	0	0	0	0	1	3086	726	26	3		3	CDCA2	8	25365068	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	144427	25365068	120998954	3975	24900											
EBF2	64641	broad.mit.edu	37	chr8	25716010	25716010	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagagatgctgcttgtgttGcggatgtacccttggcaaca	8	11	14	8	1	0	1	0	0	0	1	0	4	0	3	1	3	5	5	1	3	2	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:25716010G>A	ENST00000520164.1	-	14	1890	c.1353C>T	c.(1351-1353)cgC>cgT	p.R451R	EBF2_ENST00000535548.1_Silent_p.R182R|EBF2_ENST00000408929.3_Silent_p.R303R	NM_022659.3	NP_073150.2	Q9HAK2	COE2_HUMAN	early B-cell factor 2	451					adipose tissue development (GO:0060612)|brown fat cell differentiation (GO:0050873)|cell fate determination (GO:0001709)|positive regulation of chromatin binding (GO:0035563)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|kidney(2)|large_intestine(3)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	39		all_cancers(63;0.0989)|Ovarian(32;2.74e-05)|all_epithelial(46;0.0608)|Prostate(55;0.0845)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0277)|Epithelial(17;3.29e-10)|Colorectal(74;0.00383)|COAD - Colon adenocarcinoma(73;0.00738)		TGCTTGTGTTGCGGATGTACC	0.522																																					Esophageal Squamous(166;1018 1046 3854 8328 13429 13634 14071 26624 32918)	ENST00000520164.1																			0				endometrium(3)|kidney(2)|large_intestine(3)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	39						c.(1351-1353)cgC>cgT		early B-cell factor 2							120	120	120					8																	25716010		2044	4193	6237	SO:0001819	synonymous_variant	64641				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding	g.chr8:25716010G>A	AK021562, AK001144	CCDS43726.1	8p21.1	2007-07-26			ENSG00000221818	ENSG00000221818			19090	protein-coding gene	gene with protein product		609934				9151732	Standard	NM_022659		Approved	FLJ11500, COE2	uc003xes.2	Q9HAK2	OTTHUMG00000163838	ENST00000520164.1:c.1353C>T	8.37:g.25716010G>A						EBF2_ENST00000408929.3_Silent_p.R303R|EBF2_ENST00000535548.1_Silent_p.R182R	p.R451R	NM_022659.3	NP_073150.2	Q9HAK2	COE2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0277)|Epithelial(17;3.29e-10)|Colorectal(74;0.00383)|COAD - Colon adenocarcinoma(73;0.00738)	14	1890	-		all_cancers(63;0.0989)|Ovarian(32;2.74e-05)|all_epithelial(46;0.0608)|Prostate(55;0.0845)	451					A0PJM4|A6NMF7|F5H645|Q66VZ3|Q6DK36|Q6IS86|Q6ISA4	Silent	SNP	ENST00000520164.1	37	c.1353C>T	CCDS43726.1																																																																																				0.522	EBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375886.2	NM_022659		22	24	0	0	0	1	0	22	24					A	25716010	G	A	25716010	2	1	435	1	0	0	0	0	0	0	0	1	4881	1306	46	3		3	EBF2	8	25716010	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	350942	25716010	120648012	3976	24901											
PPP2R2A	5520	broad.mit.edu	37	chr8	26212039	26212039	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtttacagcaccttccagaGccatgaaccagagtttgact	11	11	8	11	0	0	4	0	2	0	2	1	4	1	4	4	0	4	3	4	0	2	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:26212039G>A	ENST00000380737.3	+	4	565	c.236G>A	c.(235-237)aGc>aAc	p.S79N	PPP2R2A_ENST00000315985.7_Missense_Mutation_p.S89N	NM_002717.3	NP_002708.1	P63151	2ABA_HUMAN	protein phosphatase 2, regulatory subunit B, alpha	79					G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope reassembly (GO:0007084)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|protein dephosphorylation (GO:0006470)|regulation of catalytic activity (GO:0050790)|response to morphine (GO:0043278)|RNA metabolic process (GO:0016070)|signal transduction (GO:0007165)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|protein phosphatase type 2A complex (GO:0000159)	protein phosphatase type 2A regulator activity (GO:0008601)|protein serine/threonine phosphatase activity (GO:0004722)			kidney(1)|large_intestine(2)|ovary(1)	4		all_cancers(63;0.086)|Ovarian(32;2.61e-05)|all_epithelial(46;0.0514)|Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.000754)|Epithelial(17;3.02e-15)|all cancers(2;1.52e-13)|OV - Ovarian serous cystadenocarcinoma(2;1.89e-10)|Colorectal(74;0.155)		ACCTTCCAGAGCCATGAACCA	0.323																																						ENST00000380737.3																			0				kidney(1)|large_intestine(2)|ovary(1)	4						c.(235-237)aGc>aAc		protein phosphatase 2, regulatory subunit B, alpha							95	97	96					8																	26212039		2203	4300	6503	SO:0001583	missense	5520							g.chr8:26212039G>A	M64929	CCDS34867.1, CCDS55213.1	8p21.2	2013-01-10	2010-04-14		ENSG00000221914	ENSG00000221914	3.1.3.16	"Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits", "WD repeat domain containing"	9304	protein-coding gene	gene with protein product	"PP2A subunit B isoform alpha"	604941	"protein phosphatase 2 (formerly 2A), regulatory subunit B (PR 52), alpha isoform", "protein phosphatase 2 (formerly 2A), regulatory subunit B, alpha isoform"			1849734	Standard	NM_001177591		Approved	PR52A, PR55A, B55A		P63151	OTTHUMG00000163850	ENST00000380737.3:c.236G>A	8.37:g.26212039G>A	ENSP00000370113:p.Ser79Asn					PPP2R2A_ENST00000315985.7_Missense_Mutation_p.S89N	p.S79N	NM_002717.3	NP_002708.1				UCEC - Uterine corpus endometrioid carcinoma (27;0.000754)|Epithelial(17;3.02e-15)|all cancers(2;1.52e-13)|OV - Ovarian serous cystadenocarcinoma(2;1.89e-10)|Colorectal(74;0.155)	4	565	+		all_cancers(63;0.086)|Ovarian(32;2.61e-05)|all_epithelial(46;0.0514)|Prostate(55;0.157)						B2RBU8|B4E1T7|P50409|Q00007	Missense_Mutation	SNP	ENST00000380737.3	37	c.236G>A	CCDS34867.1	.	.	.	.	.	.	.	.	.	.	G	35	5.422974	0.96111	.	.	ENSG00000221914	ENST00000380737;ENST00000315985	T;T	0.29655	1.56;1.56	5.98	5.98	0.97165	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	U	0.000000	T	0.68613	0.3020	M	0.94063	3.49	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79784	0.993;0.993	T	0.75858	-0.3169	10	0.87932	D	0	-12.7173	20.4434	0.99119	0.0:0.0:1.0:0.0	.	89;79	B4E1T7;P63151	.;2ABA_HUMAN	N	79;89	ENSP00000370113:S79N;ENSP00000325074:S89N	ENSP00000325074:S89N	S	+	2	0	PPP2R2A	26267956	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.869000	0.99810	2.838000	0.97847	0.655000	0.94253	AGC		0.323	PPP2R2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375954.2	NM_002717		4	73	0	0	0	1	0	4	73					A	26212039	G	A	26212039	3	1	435	1	0	0	0	0	1	0	0	0	12384	971	34	3	291	3	PPP2R2A	8	26212039	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	496029	26212039	120151983	3977	24902											
PPP2R2A	5520	broad.mit.edu	37	chr8	26227725	26227725	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aagcgagacataaccctagaAgcatcgcgggaaaacaataa	19	4	9	9	3	0	2	0	0	0	2	1	4	0	3	1	1	4	1	1	1	8	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:26227725A>G	ENST00000380737.3	+	10	1469	c.1140A>G	c.(1138-1140)gaA>gaG	p.E380E	PPP2R2A_ENST00000315985.7_Silent_p.E390E	NM_002717.3	NP_002708.1	P63151	2ABA_HUMAN	protein phosphatase 2, regulatory subunit B, alpha	380					G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope reassembly (GO:0007084)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|protein dephosphorylation (GO:0006470)|regulation of catalytic activity (GO:0050790)|response to morphine (GO:0043278)|RNA metabolic process (GO:0016070)|signal transduction (GO:0007165)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|protein phosphatase type 2A complex (GO:0000159)	protein phosphatase type 2A regulator activity (GO:0008601)|protein serine/threonine phosphatase activity (GO:0004722)			kidney(1)|large_intestine(2)|ovary(1)	4		all_cancers(63;0.086)|Ovarian(32;2.61e-05)|all_epithelial(46;0.0514)|Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.000754)|Epithelial(17;3.02e-15)|all cancers(2;1.52e-13)|OV - Ovarian serous cystadenocarcinoma(2;1.89e-10)|Colorectal(74;0.155)		TAACCCTAGAAGCATCGCGGG	0.423																																						ENST00000380737.3																			0				kidney(1)|large_intestine(2)|ovary(1)	4						c.(1138-1140)gaA>gaG		protein phosphatase 2, regulatory subunit B, alpha							82	77	79					8																	26227725		2203	4300	6503	SO:0001819	synonymous_variant	5520							g.chr8:26227725A>G	M64929	CCDS34867.1, CCDS55213.1	8p21.2	2013-01-10	2010-04-14		ENSG00000221914	ENSG00000221914	3.1.3.16	"Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits", "WD repeat domain containing"	9304	protein-coding gene	gene with protein product	"PP2A subunit B isoform alpha"	604941	"protein phosphatase 2 (formerly 2A), regulatory subunit B (PR 52), alpha isoform", "protein phosphatase 2 (formerly 2A), regulatory subunit B, alpha isoform"			1849734	Standard	NM_001177591		Approved	PR52A, PR55A, B55A		P63151	OTTHUMG00000163850	ENST00000380737.3:c.1140A>G	8.37:g.26227725A>G						PPP2R2A_ENST00000315985.7_Silent_p.E390E	p.E380E	NM_002717.3	NP_002708.1				UCEC - Uterine corpus endometrioid carcinoma (27;0.000754)|Epithelial(17;3.02e-15)|all cancers(2;1.52e-13)|OV - Ovarian serous cystadenocarcinoma(2;1.89e-10)|Colorectal(74;0.155)	10	1469	+		all_cancers(63;0.086)|Ovarian(32;2.61e-05)|all_epithelial(46;0.0514)|Prostate(55;0.157)						B2RBU8|B4E1T7|P50409|Q00007	Silent	SNP	ENST00000380737.3	37	c.1140A>G	CCDS34867.1																																																																																				0.423	PPP2R2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375954.2	NM_002717		4	46	0	0	0	1	0	4	46					G	26227725	A	G	26227725	2	3	435	1	0	0	0	0	0	0	0	1	12384	69	3	4		4	PPP2R2A	8	26227725	Silent	SNP	A	TCGA-XK-AAIW-01A-11D-A41K-08	15686	26227725	120136297	3978	24903											
DPYSL2	1808	broad.mit.edu	37	chr8	26481823	26481823	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aagcgcttgtgaaggatcacGgtaggttgcactgagtcaat	11	10	13	7	2	2	2	2	2	0	0	2	3	2	3	0	3	2	4	0	3	4	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:26481823G>A	ENST00000311151.5	+	4	890	c.478G>A	c.(478-480)Ggg>Agg	p.G160R	DPYSL2_ENST00000521913.1_Splice_Site_p.G124R|DPYSL2_ENST00000523027.1_Splice_Site_p.G124R	NM_001386.5	NP_001377.1	Q16555	DPYL2_HUMAN	dihydropyrimidinase-like 2	160					axon guidance (GO:0007411)|cytoskeleton organization (GO:0007010)|endocytosis (GO:0006897)|nervous system development (GO:0007399)|nucleobase-containing compound metabolic process (GO:0006139)|olfactory bulb development (GO:0021772)|positive regulation of glutamate secretion (GO:0014049)|pyrimidine nucleobase catabolic process (GO:0006208)|regulation of neuron differentiation (GO:0045664)|response to amphetamine (GO:0001975)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|signal transduction (GO:0007165)|spinal cord development (GO:0021510)|synaptic vesicle transport (GO:0048489)	axon (GO:0030424)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|membrane (GO:0016020)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)|protein complex (GO:0043234)	dihydropyrimidinase activity (GO:0004157)			breast(1)|endometrium(5)|large_intestine(8)|lung(3)|prostate(1)|skin(1)|stomach(1)	20		all_cancers(63;0.121)|Ovarian(32;2.68e-05)|all_epithelial(46;0.116)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;3.33e-10)|Colorectal(74;0.183)		GAAGGATCACGGTAGGTTGCA	0.527																																						ENST00000311151.5																			0				breast(1)|endometrium(5)|large_intestine(8)|lung(3)|prostate(1)|skin(1)|stomach(1)	20						c.e4+1		dihydropyrimidinase-like 2							182	147	159					8																	26481823		2203	4300	6503	SO:0001630	splice_region_variant	1808				axon guidance|pyrimidine base catabolic process|signal transduction	cytosol	dihydropyrimidinase activity|protein binding	g.chr8:26481823G>A	D78013	CCDS6051.1, CCDS59096.1	8p22-p21	2011-09-28			ENSG00000092964	ENSG00000092964			3014	protein-coding gene	gene with protein product		602463				8973361	Standard	NM_001197293		Approved	DRP-2, DHPRP2, CRMP2, DRP2	uc003xfa.3	Q16555	OTTHUMG00000099439	ENST00000311151.5:c.478+1G>A	8.37:g.26481823G>A						DPYSL2_ENST00000523027.1_Splice_Site_p.G124_splice|DPYSL2_ENST00000521913.1_Splice_Site_p.G124_splice	p.G160_splice	NM_001386.5	NP_001377.1	Q16555	DPYL2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;3.33e-10)|Colorectal(74;0.183)	4	890	+		all_cancers(63;0.121)|Ovarian(32;2.68e-05)|all_epithelial(46;0.116)	160					A8K5H2|B4DR31|D3DSS7|O00424	Splice_Site	SNP	ENST00000311151.5	37	c.478_splice	CCDS6051.1	.	.	.	.	.	.	.	.	.	.	G	29.5	5.010509	0.93346	.	.	ENSG00000092964	ENST00000521913;ENST00000311151;ENST00000522745;ENST00000523027	D;D;D;D	0.94650	-3.48;-3.48;-3.48;-3.48	5.75	5.75	0.90469	Amidohydrolase 1 (1);	0.000000	0.85682	D	0.000000	D	0.98560	0.9519	H	0.98111	4.15	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.99271	1.0893	10	0.87932	D	0	-13.8788	19.9417	0.97165	0.0:0.0:1.0:0.0	.	160;160;216	Q53ET2;Q16555;Q59GB4	.;DPYL2_HUMAN;.	R	124;160;160;124	ENSP00000427985:G124R;ENSP00000309539:G160R;ENSP00000428909:G160R;ENSP00000431117:G124R	ENSP00000309539:G160R	G	+	1	0	DPYSL2	26537740	1.000000	0.71417	1.000000	0.80357	0.657000	0.38888	9.869000	0.99810	2.720000	0.93068	0.655000	0.94253	GGG		0.527	DPYSL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216904.3	NM_001386	Missense_Mutation	20	38	0	0	0	1	0	20	38					A	26481823	G	A	26481823	5	1	435	1	0	0	0	0	0	0	1	0	4747	1130	39	2	492	2	DPYSL2	8	26481823	Splice_Site	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	254098	26481823	119882199	3979	24904											
CHRNA2	1135	broad.mit.edu	37	chr8	27321197	27321197	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgacgaaggcgtaggtgaCgtcggggtagatctcggcgc	8	7	18	8	6	1	3	0	2	1	1	3	5	1	3	0	5	0	2	0	5	3	2	rs201370407		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:27321197C>T	ENST00000520933.2	-	5	916	c.763G>A	c.(763-765)Gtc>Atc	p.V255I	CHRNA2_ENST00000240132.2_Missense_Mutation_p.V240I|CHRNA2_ENST00000407991.1_Missense_Mutation_p.V255I			Q15822	ACHA2_HUMAN	cholinergic receptor, nicotinic, alpha 2 (neuronal)	255					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|ion transport (GO:0006811)|protein heterooligomerization (GO:0051291)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|drug binding (GO:0008144)			breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	23		Ovarian(32;2.61e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0208)|Epithelial(17;2.77e-10)|Colorectal(74;0.136)	Atracurium(DB00732)|Biperiden(DB00810)|Carbachol(DB00411)|Cisatracurium Besylate(DB00565)|Decamethonium(DB01245)|Dextromethorphan(DB00514)|Doxacurium chloride(DB01135)|Galantamine(DB00674)|Gallamine Triethiodide(DB00483)|Mecamylamine(DB00657)|Metocurine(DB01336)|Mivacurium(DB01226)|Nicotine(DB00184)|Pancuronium(DB01337)|Pipecuronium(DB01338)|Procaine(DB00721)|Rocuronium(DB00728)|Tubocurarine(DB01199)|Vecuronium(DB01339)	GCGTAGGTGACGTCGGGGTAG	0.597													C|||	1	0.000199681	8e-04	0	5008	,	,		16024	0		0	False		,,,				2504	0					ENST00000407991.1																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	23						c.(763-765)Gtc>Atc		cholinergic receptor, nicotinic, alpha 2 (neuronal)	Atracurium(DB00732)|Biperiden(DB00810)|Carbachol(DB00411)|Cisatracurium Besylate(DB00565)|Decamethonium(DB01245)|Dextromethorphan(DB00514)|Doxacurium chloride(DB01135)|Doxacurium(DB01334)|Gallamine Triethiodide(DB00483)|Levallorphan(DB00504)|Mecamylamine(DB00657)|Metocurine Iodide(DB00416)|Metocurine(DB01336)|Mivacurium(DB01226)|Nicotine(DB00184)|Pancuronium(DB01337)|Pipecuronium(DB01338)|Rocuronium(DB00728)|Tubocurarine(DB01199)						214	180	191					8																	27321197		2203	4300	6503	SO:0001583	missense	0					cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity	g.chr8:27321197C>T	U62431	CCDS6059.1, CCDS64856.1	8p21	2012-02-11	2006-02-01		ENSG00000120903	ENSG00000120903		"Cholinergic receptors", "Ligand-gated ion channels / Acetylcholine receptors, nicotinic"	1956	protein-coding gene	gene with protein product	"acetylcholine receptor, nicotinic, alpha 2 (neuronal)"	118502	"cholinergic receptor, nicotinic, alpha polypeptide 2 (neuronal)"			1505988	Standard	NM_000742		Approved		uc010lur.3	Q15822	OTTHUMG00000102083	ENST00000520933.2:c.763G>A	8.37:g.27321197C>T	ENSP00000429616:p.Val255Ile					CHRNA2_ENST00000240132.2_Missense_Mutation_p.V240I|CHRNA2_ENST00000520933.2_Missense_Mutation_p.V255I	p.V255I	NM_000742.3	NP_000733.2	Q15822	ACHA2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0208)|Epithelial(17;2.77e-10)|Colorectal(74;0.136)	6	1371	-		Ovarian(32;2.61e-05)	255					A8KAX3|B4DK19|J3KMY9|Q9HAQ3	Missense_Mutation	SNP	ENST00000520933.2	37	c.763G>A	CCDS6059.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	0.464	-0.887536	0.02511	.	.	ENSG00000120903	ENST00000407991;ENST00000520933;ENST00000240132	T;T;T	0.79352	-1.26;-1.26;-1.26	4.97	4.02	0.46733	Neurotransmitter-gated ion-channel ligand-binding (3);	0.051973	0.85682	D	0.000000	T	0.40595	0.1123	N	0.00966	-1.09	0.40728	D	0.982727	B;B	0.15930	0.015;0.015	B;B	0.11329	0.006;0.006	T	0.52472	-0.8571	10	0.02654	T	1	.	5.904	0.18982	0.0:0.7961:0.0:0.2039	.	240;255	B4DK19;Q15822	.;ACHA2_HUMAN	I	255;255;240	ENSP00000385026:V255I;ENSP00000429616:V255I;ENSP00000240132:V240I	ENSP00000240132:V240I	V	-	1	0	CHRNA2	27377114	1.000000	0.71417	1.000000	0.80357	0.061000	0.15899	6.033000	0.70925	2.590000	0.87494	0.561000	0.74099	GTC		0.597	CHRNA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376125.4			17	29	0	0	0	1	0	17	29					T	27321197	C	T	27321197	3	4	435	1	0	0	0	0	1	0	0	0	3383	536	19	1	834	1	CHRNA2	8	27321197	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	839374	27321197	119042825	3980	24905											
ESCO2	157570	broad.mit.edu	37	chr8	27633930	27633930	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcacctaataaaaagcactgTttttatcaaaacagtgataa	18	12	4	7	0	2	1	2	1	0	0	2	1	2	1	1	0	2	2	1	0	8	6			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:27633930T>C	ENST00000305188.8	+	3	343	c.105T>C	c.(103-105)tgT>tgC	p.C35C	RNU6-1276P_ENST00000365372.1_RNA|ESCO2_ENST00000397418.2_5'UTR	NM_001017420.2	NP_001017420.1	Q56NI9	ESCO2_HUMAN	establishment of sister chromatid cohesion N-acetyltransferase 2	35					chromosome segregation (GO:0007059)|double-strand break repair (GO:0006302)|hematopoietic progenitor cell differentiation (GO:0002244)|mitotic cell cycle (GO:0000278)|post-translational protein acetylation (GO:0034421)|protein localization to chromatin (GO:0071168)|regulation of DNA replication (GO:0006275)	chromatin (GO:0000785)|chromocenter (GO:0010369)|Golgi apparatus (GO:0005794)|nuclear pericentric heterochromatin (GO:0031618)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)|XY body (GO:0001741)	lysine N-acetyltransferase activity, acting on acetyl phosphate as donor (GO:0004468)|metal ion binding (GO:0046872)			autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Ovarian(32;0.000953)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0204)|KIRC - Kidney renal clear cell carcinoma(542;0.0955)|Kidney(114;0.115)|Colorectal(74;0.132)		AAAAGCACTGTTTTTATCAAA	0.308									SC Phocomelia syndrome																													ENST00000305188.8																			0				autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						c.(103-105)tgT>tgC		establishment of sister chromatid cohesion N-acetyltransferase 2							30	33	32					8																	27633930		2201	4297	6498	SO:0001819	synonymous_variant	157570	SC Phocomelia syndrome	Familial Cancer Database	SC-Pseudothalidomide s., incl.: Roberts s.	cell cycle|post-translational protein acetylation|regulation of DNA replication	chromatin|nucleus	acyltransferase activity|metal ion binding	g.chr8:27633930T>C	AF306679	CCDS34872.1	8p21.1	2013-05-02	2013-05-02		ENSG00000171320	ENSG00000171320			27230	protein-coding gene	gene with protein product		609353	"Roberts syndrome", "establishment of cohesion 1 homolog 2 (S. cerevisiae)"	RBS		15958495, 16775838, 15821733, 16380922	Standard	XR_247122		Approved	EFO2	uc003xgg.3	Q56NI9	OTTHUMG00000163901	ENST00000305188.8:c.105T>C	8.37:g.27633930T>C						ESCO2_ENST00000397418.2_5'UTR	p.C35C	NM_001017420.2	NP_001017420.1	Q56NI9	ESCO2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0204)|KIRC - Kidney renal clear cell carcinoma(542;0.0955)|Kidney(114;0.115)|Colorectal(74;0.132)	3	343	+		Ovarian(32;0.000953)	35					B3KW59|Q49AP4	Silent	SNP	ENST00000305188.8	37	c.105T>C	CCDS34872.1																																																																																				0.308	ESCO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376276.1	NM_001017420		18	26	0	0	0	1	0	18	26					C	27633930	T	C	27633930	2	2	435	1	0	0	0	0	0	0	0	1	5249	1731	60	4		4	ESCO2	8	27633930	Silent	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	312733	27633930	118730092	3981	24906											
PBK	55872	broad.mit.edu	37	chr8	27678146	27678146	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attttaattgtttcaaaatcGcctttaattacaacatttga	14	18	3	6	1	1	1	1	1	0	0	2	1	1	1	1	0	2	1	1	0	6	8			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:27678146G>A	ENST00000301905.4	-	6	994	c.531C>T	c.(529-531)ggC>ggT	p.G177G	PBK_ENST00000522944.1_Silent_p.G177G	NM_018492.2	NP_060962.2	Q96KB5	TOPK_HUMAN	PDZ binding kinase	177	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				mitotic nuclear division (GO:0007067)		ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			endometrium(1)|large_intestine(2)|lung(1)	4		Ovarian(32;0.000953)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0213)|KIRC - Kidney renal clear cell carcinoma(542;0.101)|Kidney(114;0.121)|Colorectal(74;0.141)		TTTCAAAATCGCCTTTAATTA	0.299																																						ENST00000301905.4																			0				endometrium(1)|large_intestine(2)|lung(1)	4						c.(529-531)ggC>ggT		PDZ binding kinase							80	81	81					8																	27678146		2203	4293	6496	SO:0001819	synonymous_variant	55872				mitosis		ATP binding|protein binding|protein serine/threonine kinase activity	g.chr8:27678146G>A	AB027249	CCDS6063.1, CCDS64858.1	8p21.2	2009-08-06			ENSG00000168078	ENSG00000168078			18282	protein-coding gene	gene with protein product	"T-LAK cell-originated protein kinase", "cancer/testis antigen 84"	611210				10781613, 10779557	Standard	NM_018492		Approved	TOPK, FLJ14385, Nori-3, SPK, CT84	uc003xgi.3	Q96KB5	OTTHUMG00000102113	ENST00000301905.4:c.531C>T	8.37:g.27678146G>A						PBK_ENST00000522944.1_Silent_p.G177G	p.G177G	NM_018492.2	NP_060962.2	Q96KB5	TOPK_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0213)|KIRC - Kidney renal clear cell carcinoma(542;0.101)|Kidney(114;0.121)|Colorectal(74;0.141)	6	994	-		Ovarian(32;0.000953)	177			Protein kinase.		B4DX68|D3DST2|Q9NPD9|Q9NYL7|Q9NZK6	Silent	SNP	ENST00000301905.4	37	c.531C>T	CCDS6063.1																																																																																				0.299	PBK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219952.2	NM_018492		42	85	0	0	0	1	0	42	85					A	27678146	G	A	27678146	2	1	435	1	0	0	0	0	0	0	0	1	11488	1074	38	1		1	PBK	8	27678146	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	44216	27678146	118685876	3982	24907											
C8orf80	389643	broad.mit.edu	37	chr8	27886836	27886836	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ctgggccctttcaaacatgcCctcagccacctgccggtcca	7	8	8	18	1	2	0	2	0	0	0	3	0	3	0	6	2	4	0	6	2	1	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:27886836C>T	ENST00000413272.2	-	17	2243	c.2101G>A	c.(2101-2103)Ggc>Agc	p.G701S	NUGGC_ENST00000341513.6_Missense_Mutation_p.G701S	NM_001010906.1	NP_001010906.1	Q68CJ6	SLIP_HUMAN	nuclear GTPase, germinal center associated	701					cellular response to DNA damage stimulus (GO:0006974)|somatic hypermutation of immunoglobulin genes (GO:0016446)	nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)										TCAAACATGCCCTCAGCCACC	0.557																																						ENST00000413272.2																			0											c.(2101-2103)Ggc>Agc		nuclear GTPase, germinal center associated							56	65	62					8																	27886836		2027	4194	6221	SO:0001583	missense	389643							g.chr8:27886836C>T	AB075870	CCDS47833.1	8p21.1	2012-06-07	2012-06-07	2012-06-07	ENSG00000189233	ENSG00000189233			33550	protein-coding gene	gene with protein product	"speckled-like pattern in the germinal center"		"chromosome 8 open reading frame 80"	C8orf80		19734146	Standard	NM_001010906		Approved	HMFN0672, SLIP-GC	uc003xgm.4	Q68CJ6	OTTHUMG00000155970	ENST00000413272.2:c.2101G>A	8.37:g.27886836C>T	ENSP00000408697:p.Gly701Ser					NUGGC_ENST00000341513.6_Missense_Mutation_p.G701S	p.G701S	NM_001010906.1	NP_001010906.1					17	2243	-								Q6ZP73	Missense_Mutation	SNP	ENST00000413272.2	37	c.2101G>A	CCDS47833.1	.	.	.	.	.	.	.	.	.	.	C	17.16	3.318671	0.60524	.	.	ENSG00000189233	ENST00000413272;ENST00000341513	T;T	0.13901	2.55;2.55	5.56	5.56	0.83823	.	0.115026	0.64402	D	0.000020	T	0.11110	0.0271	L	0.34521	1.04	0.41399	D	0.987667	B	0.30406	0.278	B	0.24006	0.05	T	0.17258	-1.0375	10	0.22109	T	0.4	-20.7947	15.0246	0.71659	0.0:1.0:0.0:0.0	.	701	Q68CJ6	SLIP_HUMAN	S	701	ENSP00000408697:G701S;ENSP00000345031:G701S	ENSP00000345031:G701S	G	-	1	0	C8orf80	27942755	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.958000	0.40402	2.608000	0.88229	0.655000	0.94253	GGC		0.557	NUGGC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000342494.1	NM_001010906		6	18	0	0	0	1	0	6	18					T	27886836	C	T	27886836	3	4	435	1	0	0	0	0	1	0	0	0	2439	623	22	3	301	3	C8orf80	8	27886836	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	208690	27886836	118477186	3983	24908											
ELP3	55140	broad.mit.edu	37	chr8	28017844	28017844	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attttgattggcctcctacgAttacgcaagtgttcagaaga	11	13	9	8	2	1	3	1	1	0	2	2	4	2	3	2	1	2	2	2	1	4	6			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:28017844A>G	ENST00000256398.8	+	13	1733	c.1356A>G	c.(1354-1356)cgA>cgG	p.R452R	ELP3_ENST00000542181.1_Silent_p.R323R|ELP3_ENST00000521015.1_Silent_p.R438R|ELP3_ENST00000380353.4_Silent_p.R360R|ELP3_ENST00000537665.1_Silent_p.R333R|ELP3_ENST00000524103.1_Silent_p.R380R	NM_001284220.1|NM_001284226.1|NM_018091.5	NP_001271149.1|NP_001271155.1|NP_060561.3	Q9H9T3	ELP3_HUMAN	elongator acetyltransferase complex subunit 3	452	N-acetyltransferase. {ECO:0000255|PROSITE-ProRule:PRU00532}.				chromatin organization (GO:0006325)|positive regulation of cell migration (GO:0030335)|regulation of protein kinase activity (GO:0045859)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription elongation from RNA polymerase II promoter (GO:0006368)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|Elongator holoenzyme complex (GO:0033588)|nucleolus (GO:0005730)|transcription elongation factor complex (GO:0008023)	histone acetyltransferase activity (GO:0004402)|iron-sulfur cluster binding (GO:0051536)|metal ion binding (GO:0046872)|phosphorylase kinase regulator activity (GO:0008607)			kidney(2)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	10		Ovarian(32;0.0218)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|KIRC - Kidney renal clear cell carcinoma(542;0.127)|Kidney(114;0.151)|Colorectal(74;0.183)		GCCTCCTACGATTACGCAAGT	0.458																																						ENST00000256398.8																			0				kidney(2)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	10						c.(1354-1356)cgA>cgG		elongator acetyltransferase complex subunit 3							167	146	153					8																	28017844		2203	4300	6503	SO:0001819	synonymous_variant	55140				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|DNA-directed RNA polymerase II, holoenzyme|nucleolus|transcription elongation factor complex	histone acetyltransferase activity|iron-sulfur cluster binding|metal ion binding|phosphorylase kinase regulator activity|protein binding	g.chr8:28017844A>G		CCDS6065.1, CCDS64860.1, CCDS64861.1, CCDS75717.1, CCDS75718.1	8p21.1	2012-08-14	2012-08-08		ENSG00000134014	ENSG00000134014		"Chromatin-modifying enzymes / K-acetyltransferases", "Elongator acetyltransferase complex subunits"	20696	protein-coding gene	gene with protein product		612722	"elongation protein 3 homolog (S. cerevisiae)"			11714725	Standard	NM_018091		Approved	FLJ10422, KAT9	uc003xgo.4	Q9H9T3	OTTHUMG00000102124	ENST00000256398.8:c.1356A>G	8.37:g.28017844A>G						ELP3_ENST00000524103.1_Silent_p.R380R|ELP3_ENST00000521015.1_Silent_p.R438R|ELP3_ENST00000380353.4_Silent_p.R360R|ELP3_ENST00000537665.1_Silent_p.R333R|ELP3_ENST00000542181.1_Silent_p.R323R	p.R452R	NM_018091.5	NP_060561.3	Q9H9T3	ELP3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|KIRC - Kidney renal clear cell carcinoma(542;0.127)|Kidney(114;0.151)|Colorectal(74;0.183)	13	1733	+		Ovarian(32;0.0218)	452			N-acetyltransferase.		B4DE19|B4DIG1|E2QRI5|Q53G84|Q6AWB0|Q9BVF7|Q9NVZ1	Silent	SNP	ENST00000256398.8	37	c.1356A>G	CCDS6065.1																																																																																				0.458	ELP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219963.2	NM_018091		23	25	0	0	0	1	0	23	25					G	28017844	A	G	28017844	2	3	435	1	0	0	0	0	0	0	0	1	5081	320	12	4		4	ELP3	8	28017844	Silent	SNP	A	TCGA-XK-AAIW-01A-11D-A41K-08	131008	28017844	118346178	3984	24909											
ELP3	55140	broad.mit.edu	37	chr8	28017893	28017893	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtttcgaattgggtggaggtGtctccatagtacgagagctg	8	12	15	6	2	1	1	0	0	1	1	3	4	1	2	1	3	2	3	1	3	3	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:28017893G>A	ENST00000256398.8	+	13	1782	c.1405G>A	c.(1405-1407)Gtc>Atc	p.V469I	ELP3_ENST00000542181.1_Missense_Mutation_p.V340I|ELP3_ENST00000521015.1_Missense_Mutation_p.V455I|ELP3_ENST00000380353.4_Missense_Mutation_p.V377I|ELP3_ENST00000537665.1_Missense_Mutation_p.V350I|ELP3_ENST00000524103.1_Missense_Mutation_p.V397I	NM_001284220.1|NM_001284226.1|NM_018091.5	NP_001271149.1|NP_001271155.1|NP_060561.3	Q9H9T3	ELP3_HUMAN	elongator acetyltransferase complex subunit 3	469	N-acetyltransferase. {ECO:0000255|PROSITE-ProRule:PRU00532}.				chromatin organization (GO:0006325)|positive regulation of cell migration (GO:0030335)|regulation of protein kinase activity (GO:0045859)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription elongation from RNA polymerase II promoter (GO:0006368)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|Elongator holoenzyme complex (GO:0033588)|nucleolus (GO:0005730)|transcription elongation factor complex (GO:0008023)	histone acetyltransferase activity (GO:0004402)|iron-sulfur cluster binding (GO:0051536)|metal ion binding (GO:0046872)|phosphorylase kinase regulator activity (GO:0008607)			kidney(2)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	10		Ovarian(32;0.0218)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|KIRC - Kidney renal clear cell carcinoma(542;0.127)|Kidney(114;0.151)|Colorectal(74;0.183)		GGGTGGAGGTGTCTCCATAGT	0.458																																						ENST00000256398.8																			0				kidney(2)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	10						c.(1405-1407)Gtc>Atc		elongator acetyltransferase complex subunit 3							160	135	144					8																	28017893		2203	4300	6503	SO:0001583	missense	55140				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|DNA-directed RNA polymerase II, holoenzyme|nucleolus|transcription elongation factor complex	histone acetyltransferase activity|iron-sulfur cluster binding|metal ion binding|phosphorylase kinase regulator activity|protein binding	g.chr8:28017893G>A		CCDS6065.1, CCDS64860.1, CCDS64861.1, CCDS75717.1, CCDS75718.1	8p21.1	2012-08-14	2012-08-08		ENSG00000134014	ENSG00000134014		"Chromatin-modifying enzymes / K-acetyltransferases", "Elongator acetyltransferase complex subunits"	20696	protein-coding gene	gene with protein product		612722	"elongation protein 3 homolog (S. cerevisiae)"			11714725	Standard	NM_018091		Approved	FLJ10422, KAT9	uc003xgo.4	Q9H9T3	OTTHUMG00000102124	ENST00000256398.8:c.1405G>A	8.37:g.28017893G>A	ENSP00000256398:p.Val469Ile					ELP3_ENST00000524103.1_Missense_Mutation_p.V397I|ELP3_ENST00000521015.1_Missense_Mutation_p.V455I|ELP3_ENST00000380353.4_Missense_Mutation_p.V377I|ELP3_ENST00000537665.1_Missense_Mutation_p.V350I|ELP3_ENST00000542181.1_Missense_Mutation_p.V340I	p.V469I	NM_018091.5	NP_060561.3	Q9H9T3	ELP3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|KIRC - Kidney renal clear cell carcinoma(542;0.127)|Kidney(114;0.151)|Colorectal(74;0.183)	13	1782	+		Ovarian(32;0.0218)	469			N-acetyltransferase.		B4DE19|B4DIG1|E2QRI5|Q53G84|Q6AWB0|Q9BVF7|Q9NVZ1	Missense_Mutation	SNP	ENST00000256398.8	37	c.1405G>A	CCDS6065.1	.	.	.	.	.	.	.	.	.	.	G	19.73	3.881308	0.72294	.	.	ENSG00000134014	ENST00000521015;ENST00000256398;ENST00000542181;ENST00000524103;ENST00000537665;ENST00000380353;ENST00000523357	.	.	.	5.17	5.17	0.71159	GCN5-related N-acetyltransferase (GNAT) domain (2);Acyl-CoA N-acyltransferase (2);	0.119975	0.56097	D	0.000030	T	0.70911	0.3278	M	0.77820	2.39	0.58432	D	0.999999	B;B	0.22003	0.009;0.063	B;B	0.29440	0.027;0.102	T	0.70927	-0.4739	9	0.56958	D	0.05	-21.9871	16.5174	0.84304	0.0:0.0:1.0:0.0	.	350;469	B4DE19;Q9H9T3	.;ELP3_HUMAN	I	455;469;340;397;350;377;68	.	ENSP00000256398:V469I	V	+	1	0	ELP3	28073812	1.000000	0.71417	0.997000	0.53966	0.964000	0.63967	7.898000	0.87363	2.543000	0.85770	0.655000	0.94253	GTC		0.458	ELP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219963.2	NM_018091		15	23	0	0	0	1	0	15	23					A	28017893	G	A	28017893	3	1	435	1	0	0	0	0	1	0	0	0	5081	1377	48	3	1455	3	ELP3	8	28017893	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	49	28017893	118346129	3985	24910											
ZNF395	55893	broad.mit.edu	37	chr8	28218608	28218608	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccgggctcccaggagggaccGctttccaaggcgtcgggaca	7	5	15	14	4	0	0	0	0	0	0	3	3	2	3	4	5	0	2	4	5	1	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:28218608G>A	ENST00000344423.5	-	2	165	c.34C>T	c.(34-36)Cgg>Tgg	p.R12W	ZNF395_ENST00000523202.1_Missense_Mutation_p.R12W|ZNF395_ENST00000523095.1_Missense_Mutation_p.R12W	NM_018660.2	NP_061130.1	Q9H8N7	ZN395_HUMAN	zinc finger protein 395	12					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			cervix(1)|endometrium(1)|kidney(5)|large_intestine(6)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24		Ovarian(32;2.06e-05)		KIRC - Kidney renal clear cell carcinoma(542;0.102)|Kidney(114;0.123)|Colorectal(74;0.142)		AGGAGGGACCGCTTTCCAAGG	0.697																																						ENST00000344423.5																			0				cervix(1)|endometrium(1)|kidney(5)|large_intestine(6)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						c.(34-36)Cgg>Tgg		zinc finger protein 395							27	31	30					8																	28218608		2183	4270	6453	SO:0001583	missense	55893				transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding	g.chr8:28218608G>A	AB044750	CCDS6067.1	8p21	2008-05-02			ENSG00000186918	ENSG00000186918		"Zinc fingers, C2H2-type"	18737	protein-coding gene	gene with protein product		609494				14625278	Standard	NM_018660		Approved	PRF-1, HDBP2, PBF, DKFZp434K1210	uc003xgr.3	Q9H8N7	OTTHUMG00000102137	ENST00000344423.5:c.34C>T	8.37:g.28218608G>A	ENSP00000340494:p.Arg12Trp					ZNF395_ENST00000523095.1_Missense_Mutation_p.R12W|ZNF395_ENST00000523202.1_Missense_Mutation_p.R12W	p.R12W	NM_018660.2	NP_061130.1	Q9H8N7	ZN395_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.102)|Kidney(114;0.123)|Colorectal(74;0.142)	2	165	-		Ovarian(32;2.06e-05)	12					B3KUY7|D3DST4|Q6F6H2|Q9BY72|Q9NPB2|Q9NS57|Q9NS58|Q9NS59	Missense_Mutation	SNP	ENST00000344423.5	37	c.34C>T	CCDS6067.1	.	.	.	.	.	.	.	.	.	.	G	17.04	3.287542	0.59976	.	.	ENSG00000186918	ENST00000344423;ENST00000523202;ENST00000523095;ENST00000521912;ENST00000520290;ENST00000521185;ENST00000522795;ENST00000517459	T;T;T	0.59638	0.25;0.25;0.25	5.14	4.27	0.50696	.	0.000000	0.64402	D	0.000002	T	0.72740	0.3498	M	0.70275	2.135	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.75416	-0.3325	10	0.87932	D	0	-33.1407	11.2286	0.48899	0.0:0.0:0.6687:0.3312	.	12	Q9H8N7	ZN395_HUMAN	W	12	ENSP00000340494:R12W;ENSP00000429640:R12W;ENSP00000428452:R12W	ENSP00000340494:R12W	R	-	1	2	ZNF395	28274527	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	3.095000	0.50235	1.293000	0.44690	0.655000	0.94253	CGG		0.697	ZNF395-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219976.1			10	22	0	0	0	1	0	10	22					A	28218608	G	A	28218608	3	1	435	1	0	0	0	0	1	0	0	0	17878	1086	38	1	1543	1	ZNF395	8	28218608	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	200715	28218608	118145414	3986	24911											
EXTL3	2137	broad.mit.edu	37	chr8	28573869	28573869	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	agagctcctgcagctggaggCcaagcgccaagagctgaaca	12	4	13	12	1	0	3	0	1	0	2	1	4	1	4	3	2	6	4	3	2	3	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:28573869C>T	ENST00000220562.4	+	3	1195	c.293C>T	c.(292-294)gCc>gTc	p.A98V	EXTL3_ENST00000519886.1_Intron|EXTL3_ENST00000523149.1_Intron	NM_001440.2	NP_001431.1	O43909	EXTL3_HUMAN	exostosin-like glycosyltransferase 3	98					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|positive regulation of cell growth (GO:0030307)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)	glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity (GO:0001888)|metal ion binding (GO:0046872)			biliary_tract(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(8)|ovary(1)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(1)	36		Ovarian(32;0.069)		KIRC - Kidney renal clear cell carcinoma(542;0.107)|Kidney(114;0.129)|Colorectal(74;0.228)		CAGCTGGAGGCCAAGCGCCAA	0.592																																						ENST00000220562.4																			0				biliary_tract(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(8)|ovary(1)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(1)	36						c.(292-294)gCc>gTc		exostosin-like glycosyltransferase 3							54	51	52					8																	28573869		2203	4300	6503	SO:0001583	missense	2137					integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|metal ion binding|protein binding	g.chr8:28573869C>T	U76188	CCDS6070.1	8p22-p12	2013-03-01	2013-03-01		ENSG00000012232	ENSG00000012232	2.4.1.223	"Exostosin glycosyltransferase family"	3518	protein-coding gene	gene with protein product	"REG receptor", "glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase"	605744	"exostoses (multiple)-like 3"			9479495, 9450183, 11257457	Standard	NM_001440		Approved	botv, REGR	uc003xgz.2	O43909	OTTHUMG00000102146	ENST00000220562.4:c.293C>T	8.37:g.28573869C>T	ENSP00000220562:p.Ala98Val					EXTL3_ENST00000519886.1_Intron|EXTL3_ENST00000523149.1_Intron	p.A98V	NM_001440.2	NP_001431.1	O43909	EXTL3_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.107)|Kidney(114;0.129)|Colorectal(74;0.228)	3	1195	+		Ovarian(32;0.069)	98					D3DST8|O00225|Q53XT3	Missense_Mutation	SNP	ENST00000220562.4	37	c.293C>T	CCDS6070.1	.	.	.	.	.	.	.	.	.	.	C	23.8	4.456062	0.84209	.	.	ENSG00000012232	ENST00000220562	D	0.95656	-3.77	5.53	5.53	0.82687	.	0.050414	0.85682	D	0.000000	D	0.95182	0.8438	L	0.46157	1.445	0.80722	D	1	D	0.54772	0.968	P	0.50231	0.635	D	0.94187	0.7437	9	.	.	.	-22.9435	19.4523	0.94872	0.0:1.0:0.0:0.0	.	98	O43909	EXTL3_HUMAN	V	98	ENSP00000220562:A98V	.	A	+	2	0	EXTL3	28629788	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.818000	0.86416	2.600000	0.87896	0.491000	0.48974	GCC		0.592	EXTL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219987.3	NM_001440		7	18	0	0	0	1	0	7	18					T	28573869	C	T	28573869	3	4	435	1	0	0	0	0	1	0	0	0	5327	739	26	3	295	3	EXTL3	8	28573869	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	355261	28573869	117790153	3987	24912											
EXTL3	2137	broad.mit.edu	37	chr8	28575164	28575164	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgacagtatttttaataccGtgctggctatgattaggact	10	15	9	7	1	0	2	0	2	0	0	0	3	0	3	1	2	2	3	1	2	5	7	rs138950489		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:28575164G>A	ENST00000220562.4	+	3	2490	c.1588G>A	c.(1588-1590)Gtg>Atg	p.V530M	EXTL3_ENST00000519886.1_Intron|EXTL3_ENST00000523149.1_Missense_Mutation_p.V146M	NM_001440.2	NP_001431.1	O43909	EXTL3_HUMAN	exostosin-like glycosyltransferase 3	530					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|positive regulation of cell growth (GO:0030307)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)	glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity (GO:0001888)|metal ion binding (GO:0046872)			biliary_tract(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(8)|ovary(1)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(1)	36		Ovarian(32;0.069)		KIRC - Kidney renal clear cell carcinoma(542;0.107)|Kidney(114;0.129)|Colorectal(74;0.228)		TTTTAATACCGTGCTGGCTAT	0.577																																						ENST00000220562.4																			0				biliary_tract(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(8)|ovary(1)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(1)	36						c.(1588-1590)Gtg>Atg		exostosin-like glycosyltransferase 3		G	MET/VAL	1,4405	2.1+/-5.4	0,1,2202	53	55	54		1588	4.9	0.9	8	dbSNP_134	54	0,8600		0,0,4300	yes	missense	EXTL3	NM_001440.2	21	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	530/920	28575164	1,13005	2203	4300	6503	SO:0001583	missense	2137					integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|metal ion binding|protein binding	g.chr8:28575164G>A	U76188	CCDS6070.1	8p22-p12	2013-03-01	2013-03-01		ENSG00000012232	ENSG00000012232	2.4.1.223	"Exostosin glycosyltransferase family"	3518	protein-coding gene	gene with protein product	"REG receptor", "glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase"	605744	"exostoses (multiple)-like 3"			9479495, 9450183, 11257457	Standard	NM_001440		Approved	botv, REGR	uc003xgz.2	O43909	OTTHUMG00000102146	ENST00000220562.4:c.1588G>A	8.37:g.28575164G>A	ENSP00000220562:p.Val530Met					EXTL3_ENST00000519886.1_Intron|EXTL3_ENST00000523149.1_Missense_Mutation_p.V146M	p.V530M	NM_001440.2	NP_001431.1	O43909	EXTL3_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.107)|Kidney(114;0.129)|Colorectal(74;0.228)	3	2490	+		Ovarian(32;0.069)	530					D3DST8|O00225|Q53XT3	Missense_Mutation	SNP	ENST00000220562.4	37	c.1588G>A	CCDS6070.1	.	.	.	.	.	.	.	.	.	.	G	10.05	1.244581	0.22796	2.27E-4	0.0	ENSG00000012232	ENST00000523149;ENST00000220562	D;D	0.95853	-3.42;-3.83	5.8	4.9	0.64082	.	0.224247	0.40640	N	0.001045	D	0.91140	0.7210	L	0.42245	1.32	0.43003	D	0.994523	P	0.41524	0.753	B	0.33521	0.165	D	0.90456	0.4442	10	0.62326	D	0.03	-25.6122	10.0849	0.42412	0.0712:0.1385:0.7904:0.0	.	530	O43909	EXTL3_HUMAN	M	146;530	ENSP00000428691:V146M;ENSP00000220562:V530M	ENSP00000220562:V530M	V	+	1	0	EXTL3	28631083	0.897000	0.30589	0.884000	0.34674	0.976000	0.68499	1.491000	0.35583	1.390000	0.46547	0.563000	0.77884	GTG		0.577	EXTL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219987.3	NM_001440		15	21	0	0	0	1	0	15	21					A	28575164	G	A	28575164	3	1	435	1	0	0	0	0	1	0	0	0	5327	1145	40	1	1590	1	EXTL3	8	28575164	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	1295	28575164	117788858	3988	24913											
KIF13B	23303	broad.mit.edu	37	chr8	28967440	28967440	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atgcggttggctaacctggcGcagacgatctaaagtcagga	11	8	13	9	3	2	1	1	0	1	1	2	3	2	2	1	4	2	3	1	4	3	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:28967440G>A	ENST00000524189.1	-	33	4116	c.4078C>T	c.(4078-4080)Cgc>Tgc	p.R1360C	CTD-2647L4.1_ENST00000523661.1_RNA	NM_015254.3	NP_056069.2	Q9NQT8	KI13B_HUMAN	kinesin family member 13B	1360					metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|protein targeting (GO:0006605)|regulation of axonogenesis (GO:0050770)|signal transduction (GO:0007165)|T cell activation (GO:0042110)	axon (GO:0030424)|cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	14-3-3 protein binding (GO:0071889)|ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)|protein kinase binding (GO:0019901)			endometrium(6)|kidney(1)|lung(20)|urinary_tract(1)	28		Ovarian(32;0.000536)		KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)		CTAACCTGGCGCAGACGATCT	0.512																																						ENST00000524189.1																			0				endometrium(6)|kidney(1)|lung(20)|urinary_tract(1)	28						c.(4078-4080)Cgc>Tgc		kinesin family member 13B							47	47	47					8																	28967440		2001	4173	6174	SO:0001583	missense	23303				microtubule-based movement|protein targeting|signal transduction|T cell activation	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein kinase binding	g.chr8:28967440G>A	AB014539	CCDS55217.1	8p21	2008-07-30				ENSG00000197892		"Kinesins"	14405	protein-coding gene	gene with protein product		607350				9734811, 10859302, 16864656	Standard	NM_015254		Approved	GAKIN, KIAA0639	uc003xhh.4	Q9NQT8		ENST00000524189.1:c.4078C>T	8.37:g.28967440G>A	ENSP00000427900:p.Arg1360Cys						p.R1360C	NM_015254.3	NP_056069.2	Q9NQT8	KI13B_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)	33	4116	-		Ovarian(32;0.000536)	1360					B4DGY5|B5MC45|F8VPJ2|O75134|Q9BYJ6	Missense_Mutation	SNP	ENST00000524189.1	37	c.4078C>T	CCDS55217.1	.	.	.	.	.	.	.	.	.	.	G	17.29	3.351304	0.61183	.	.	ENSG00000197892	ENST00000524189	D	0.83506	-1.73	5.14	5.14	0.70334	.	0.000000	0.85682	D	0.000000	D	0.90205	0.6938	M	0.64997	1.995	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.90880	0.4753	10	0.87932	D	0	.	18.8062	0.92038	0.0:0.0:1.0:0.0	.	1360	F8VPJ2	.	C	1360	ENSP00000427900:R1360C	ENSP00000427900:R1360C	R	-	1	0	KIF13B	29023359	1.000000	0.71417	0.970000	0.41538	0.480000	0.33159	5.418000	0.66429	2.666000	0.90696	0.655000	0.94253	CGC		0.512	KIF13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376878.1			9	14	0	0	0	1	0	9	14					A	28967440	G	A	28967440	3	1	435	1	0	0	0	0	1	0	0	0	8275	1087	38	1	1434	1	KIF13B	8	28967440	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	392276	28967440	117396582	3989	24914											
KIF13B	23303	broad.mit.edu	37	chr8	28974382	28974382	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cattgacacagattctcttgCgtaacaccagttgcatgtca	11	12	7	11	1	2	2	1	1	1	1	3	2	2	2	1	0	3	3	1	0	1	5	rs374014840		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:28974382C>T	ENST00000524189.1	-	31	3841	c.3803G>A	c.(3802-3804)cGc>cAc	p.R1268H	CTD-2647L4.1_ENST00000523661.1_RNA	NM_015254.3	NP_056069.2	Q9NQT8	KI13B_HUMAN	kinesin family member 13B	1268					metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|protein targeting (GO:0006605)|regulation of axonogenesis (GO:0050770)|signal transduction (GO:0007165)|T cell activation (GO:0042110)	axon (GO:0030424)|cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	14-3-3 protein binding (GO:0071889)|ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)|protein kinase binding (GO:0019901)			endometrium(6)|kidney(1)|lung(20)|urinary_tract(1)	28		Ovarian(32;0.000536)		KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)		GATTCTCTTGCGTAACACCAG	0.592																																						ENST00000524189.1																			0				endometrium(6)|kidney(1)|lung(20)|urinary_tract(1)	28						c.(3802-3804)cGc>cAc		kinesin family member 13B		C	HIS/ARG	0,4266		0,0,2133	74	79	77		3803	5.2	0.9	8		77	1,8483		0,1,4241	no	missense	KIF13B	NM_015254.3	29	0,1,6374	TT,TC,CC		0.0118,0.0,0.0078	probably-damaging	1268/1827	28974382	1,12749	2133	4242	6375	SO:0001583	missense	23303				microtubule-based movement|protein targeting|signal transduction|T cell activation	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein kinase binding	g.chr8:28974382C>T	AB014539	CCDS55217.1	8p21	2008-07-30				ENSG00000197892		"Kinesins"	14405	protein-coding gene	gene with protein product		607350				9734811, 10859302, 16864656	Standard	NM_015254		Approved	GAKIN, KIAA0639	uc003xhh.4	Q9NQT8		ENST00000524189.1:c.3803G>A	8.37:g.28974382C>T	ENSP00000427900:p.Arg1268His					CTD-2647L4.1_ENST00000523661.1_RNA	p.R1268H	NM_015254.3	NP_056069.2	Q9NQT8	KI13B_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)	31	3841	-		Ovarian(32;0.000536)	1268					B4DGY5|B5MC45|F8VPJ2|O75134|Q9BYJ6	Missense_Mutation	SNP	ENST00000524189.1	37	c.3803G>A	CCDS55217.1	.	.	.	.	.	.	.	.	.	.	C	25.9	4.684940	0.88639	0.0	1.18E-4	ENSG00000197892	ENST00000524189	T	0.80480	-1.38	5.2	5.2	0.72013	.	0.000000	0.85682	D	0.000000	D	0.91002	0.7170	M	0.84948	2.725	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.92067	0.5661	10	0.87932	D	0	.	18.9316	0.92568	0.0:1.0:0.0:0.0	.	1268	F8VPJ2	.	H	1268	ENSP00000427900:R1268H	ENSP00000427900:R1268H	R	-	2	0	KIF13B	29030301	1.000000	0.71417	0.948000	0.38648	0.436000	0.31835	7.257000	0.78362	2.691000	0.91804	0.655000	0.94253	CGC		0.592	KIF13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376878.1			22	26	0	0	0	1	0	22	26					T	28974382	C	T	28974382	3	4	435	1	0	0	0	0	1	0	0	0	8275	768	27	1	1717	1	KIF13B	8	28974382	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	6942	28974382	117389640	3990	24915											
KIF13B	23303	broad.mit.edu	37	chr8	29102917	29102917	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gattaagaataaccttgtttGcatccacatccaccacacat	14	11	4	12	0	0	1	0	0	0	1	2	2	2	1	4	0	2	2	4	0	3	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:29102917G>A	ENST00000524189.1	-	2	133	c.95C>T	c.(94-96)gCa>gTa	p.A32V	KIF13B_ENST00000521515.1_Missense_Mutation_p.A32V	NM_015254.3	NP_056069.2	Q9NQT8	KI13B_HUMAN	kinesin family member 13B	32	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|protein targeting (GO:0006605)|regulation of axonogenesis (GO:0050770)|signal transduction (GO:0007165)|T cell activation (GO:0042110)	axon (GO:0030424)|cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	14-3-3 protein binding (GO:0071889)|ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)|protein kinase binding (GO:0019901)			endometrium(6)|kidney(1)|lung(20)|urinary_tract(1)	28		Ovarian(32;0.000536)		KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)		AACCTTGTTTGCATCCACATC	0.358																																						ENST00000524189.1																			0				endometrium(6)|kidney(1)|lung(20)|urinary_tract(1)	28						c.(94-96)gCa>gTa		kinesin family member 13B							69	61	64					8																	29102917		1888	4119	6007	SO:0001583	missense	23303				microtubule-based movement|protein targeting|signal transduction|T cell activation	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein kinase binding	g.chr8:29102917G>A	AB014539	CCDS55217.1	8p21	2008-07-30				ENSG00000197892		"Kinesins"	14405	protein-coding gene	gene with protein product		607350				9734811, 10859302, 16864656	Standard	NM_015254		Approved	GAKIN, KIAA0639	uc003xhh.4	Q9NQT8		ENST00000524189.1:c.95C>T	8.37:g.29102917G>A	ENSP00000427900:p.Ala32Val					KIF13B_ENST00000521515.1_Missense_Mutation_p.A32V	p.A32V	NM_015254.3	NP_056069.2	Q9NQT8	KI13B_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)	2	133	-		Ovarian(32;0.000536)	32			Kinesin-motor.		B4DGY5|B5MC45|F8VPJ2|O75134|Q9BYJ6	Missense_Mutation	SNP	ENST00000524189.1	37	c.95C>T	CCDS55217.1	.	.	.	.	.	.	.	.	.	.	G	15.53	2.860029	0.51482	.	.	ENSG00000197892	ENST00000524189;ENST00000521515	D;D	0.88354	-2.37;-2.37	5.51	3.71	0.42584	.	0.432627	0.25052	N	0.033509	T	0.82098	0.4963	L	0.31207	0.915	0.80722	D	1	B;B	0.22746	0.004;0.074	B;B	0.29077	0.004;0.098	T	0.76307	-0.3007	10	0.87932	D	0	.	6.9403	0.24488	0.0886:0.0:0.7389:0.1725	.	32;32	A0JLQ2;F8VPJ2	.;.	V	32	ENSP00000427900:A32V;ENSP00000429201:A32V	ENSP00000429201:A32V	A	-	2	0	KIF13B	29158836	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	2.420000	0.44679	0.686000	0.31488	0.557000	0.71058	GCA		0.358	KIF13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376878.1			6	8	0	0	0	1	0	6	8					A	29102917	G	A	29102917	3	1	435	1	0	0	0	0	1	0	0	0	8275	1319	46	3	5541	3	KIF13B	8	29102917	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	128535	29102917	117261105	3991	24916											
TMEM66	51669	broad.mit.edu	37	chr8	29923592	29923592	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtgagtaagccctattccaCgtgccagggtaggagggagg	9	7	17	8	1	0	1	0	1	0	0	1	3	1	3	3	5	2	2	3	5	3	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:29923592C>T	ENST00000256255.6	-	5	1163	c.906G>A	c.(904-906)acG>acA	p.T302T	TMEM66_ENST00000545648.1_Silent_p.T130T|TMEM66_ENST00000536273.1_Silent_p.T130T	NM_016127.4	NP_057211.4	Q96BY9	SARAF_HUMAN		302					calcium ion transport (GO:0006816)|regulation of store-operated calcium entry (GO:2001256)	integral component of endoplasmic reticulum membrane (GO:0030176)				endometrium(2)|large_intestine(1)|lung(11)	14				KIRC - Kidney renal clear cell carcinoma(542;0.0993)|Kidney(114;0.119)		CCCTATTCCACGTGCCAGGGT	0.488																																						ENST00000256255.6																			0				endometrium(2)|large_intestine(1)|lung(11)	14						c.(904-906)acG>acA		transmembrane protein 66							130	124	126					8																	29923592		2203	4300	6503	SO:0001819	synonymous_variant	51669					integral to membrane		g.chr8:29923592C>T																												ENST00000256255.6:c.906G>A	8.37:g.29923592C>T						TMEM66_ENST00000545648.1_Silent_p.T130T|TMEM66_ENST00000536273.1_Silent_p.T130T	p.T302T	NM_016127.4	NP_057211.4	Q96BY9	TMM66_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.0993)|Kidney(114;0.119)	5	1163	-			302					B3KQQ4|B7Z9J1|D3DSU7|H9MHJ8|H9MHJ9|Q53HE8|Q9UNZ3|Q9Y683	Silent	SNP	ENST00000256255.6	37	c.906G>A	CCDS6074.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	3.902|3.902	-0.021745|-0.021745	0.07634|0.07634	.|.	.|.	ENSG00000133872|ENSG00000133872	ENST00000521265|ENST00000518296	.|.	.|.	.|.	5.78|5.78	-11.6|-11.6	0.00059|0.00059	.|.	.|.	.|.	.|.	.|.	T|T	0.39963|0.39963	0.1098|0.1098	.|.	.|.	.|.	0.34097|0.34097	D|D	0.661448|0.661448	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.61113|0.61113	-0.7128|-0.7128	4|4	.|.	.|.	.|.	-7.387|-7.387	9.4491|9.4491	0.38714|0.38714	0.0598:0.4798:0.381:0.0794|0.0598:0.4798:0.381:0.0794	.|.	.|.	.|.	.|.	H|M	302|172	.|.	.|.	R|V	-|-	2|1	0|0	TMEM66|TMEM66	30043134|30043134	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.001000|0.001000	0.01503|0.01503	-2.763000|-2.763000	0.00784|0.00784	-5.238000|-5.238000	0.00018|0.00018	-3.480000|-3.480000	0.00034|0.00034	CGT|GTG		0.488	TMEM66-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257254.4			22	38	0	0	0	1	0	22	38					T	29923592	C	T	29923592	2	4	435	1	0	0	0	0	0	0	0	1	16192	523	19	1		1	TMEM66	8	29923592	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	820675	29923592	116440430	3992	24917											
RBPMS	11030	broad.mit.edu	37	chr8	30416412	30416412	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	atgtcttttcagatgcgctgGctccctccctccgaggctac	5	12	9	15	2	2	1	1	0	1	1	5	2	5	1	3	2	2	3	3	2	1	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:30416412G>A	ENST00000320203.4	+	7	1119	c.537G>A	c.(535-537)tgG>tgA	p.W179*	RBPMS_ENST00000287771.5_3'UTR|RBPMS_ENST00000397323.4_Nonsense_Mutation_p.W179*|RBPMS_ENST00000538486.1_Nonsense_Mutation_p.W136*	NM_006867.2	NP_006858.1	Q93062	RBPMS_HUMAN	RNA binding protein with multiple splicing	179					positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of SMAD protein import into nucleus (GO:0060391)|regulation of transcription, DNA-templated (GO:0006355)|RNA processing (GO:0006396)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)|transcription coactivator activity (GO:0003713)			autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	13				KIRC - Kidney renal clear cell carcinoma(542;0.144)|Kidney(114;0.172)		AGATGCGCTGGCTCCCTCCCT	0.562																																						ENST00000320203.4																			0				autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	13						c.(535-537)tgG>tgA		RNA binding protein with multiple splicing							119	106	110					8																	30416412		2203	4300	6503	SO:0001587	stop_gained	11030				positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|regulation of transcription, DNA-dependent|RNA processing|transcription, DNA-dependent	cytoplasm|nucleus	nucleotide binding|poly(A) RNA binding|protein binding|transcription coactivator activity	g.chr8:30416412G>A	D84110	CCDS6077.1, CCDS34875.1, CCDS34876.1	8p12	2013-06-07			ENSG00000157110	ENSG00000157110		"RNA binding motif (RRM) containing"	19097	protein-coding gene	gene with protein product		601558				8855282	Standard	NM_001008710		Approved	HERMES	uc003xib.3	Q93062	OTTHUMG00000163845	ENST00000320203.4:c.537G>A	8.37:g.30416412G>A	ENSP00000318102:p.Trp179*					RBPMS_ENST00000538486.1_Nonsense_Mutation_p.W136*|RBPMS_ENST00000287771.5_3'UTR|RBPMS_ENST00000397323.4_Nonsense_Mutation_p.W179*	p.W179*	NM_006867.2	NP_006858.1	Q93062	RBPMS_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.144)|Kidney(114;0.172)	7	1119	+			179					D3DSU9|Q92516|Q92517|Q92518|Q96J26	Nonsense_Mutation	SNP	ENST00000320203.4	37	c.537G>A	CCDS6077.1	.	.	.	.	.	.	.	.	.	.	G	44	10.704931	0.99453	.	.	ENSG00000157110	ENST00000538486;ENST00000397323;ENST00000320203	.	.	.	5.75	5.75	0.90469	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	17.4473	0.87581	0.0:0.0:1.0:0.0	.	.	.	.	X	136;179;179	.	ENSP00000318102:W179X	W	+	3	0	RBPMS	30535954	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.132000	0.77251	2.710000	0.92621	0.557000	0.71058	TGG		0.562	RBPMS-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000376357.2			27	34	0	0	0	1	0	27	34					A	30416412	G	A	30416412	4	1	435	1	0	0	0	0	0	1	0	0	13163	1212	42	3	789	3	RBPMS	8	30416412	Nonsense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	492820	30416412	115947610	3993	24918											
GSR	2936	broad.mit.edu	37	chr8	30553908	30553908	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggcatttaccttatcatgccGtatcatcagtgatgtcttag	9	15	8	9	1	4	1	3	1	1	0	4	1	4	1	2	1	2	2	2	1	4	5	rs140665617		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:30553908G>A	ENST00000221130.5	-	7	874	c.784C>T	c.(784-786)Cgg>Tgg	p.R262W	GSR_ENST00000537535.1_Missense_Mutation_p.R262W|GSR_ENST00000541648.1_Missense_Mutation_p.R262W|GSR_ENST00000414019.1_Missense_Mutation_p.R219W|GSR_ENST00000546342.1_Missense_Mutation_p.R262W	NM_000637.3|NM_001195102.1|NM_001195103.1	NP_000628.2|NP_001182031.1|NP_001182032.1	P00390	GSHR_HUMAN	glutathione reductase	262					cell redox homeostasis (GO:0045454)|glutathione metabolic process (GO:0006749)|nucleobase-containing small molecule interconversion (GO:0015949)|nucleobase-containing small molecule metabolic process (GO:0055086)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)	electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|glutathione-disulfide reductase activity (GO:0004362)|NADP binding (GO:0050661)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|urinary_tract(2)	23				KIRC - Kidney renal clear cell carcinoma(542;0.105)|Kidney(114;0.125)	Carmustine(DB00262)|Flavin adenine dinucleotide(DB03147)|Glutathione(DB00143)	TTATCATGCCGTATCATCAGT	0.423																																						ENST00000221130.5																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|urinary_tract(2)	23						c.(784-786)Cgg>Tgg		glutathione reductase	Carmustine(DB00262)|Glutathione(DB00143)|NADH(DB00157)	G	TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	171	153	159		784,784,784,784	4	1	8	dbSNP_134	159	0,8600		0,0,4300	no	missense,missense,missense,missense	GSR	NM_000637.3,NM_001195102.1,NM_001195103.1,NM_001195104.1	101,101,101,101	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging	262/523,262/494,262/470,262/441	30553908	1,13005	2203	4300	6503	SO:0001583	missense	2936				cell redox homeostasis|nucleobase, nucleoside and nucleotide interconversion	cytosol|mitochondrion	electron carrier activity|glutathione-disulfide reductase activity	g.chr8:30553908G>A		CCDS34877.1, CCDS56530.1, CCDS56531.1, CCDS56532.1	8p21.1	2012-10-02			ENSG00000104687	ENSG00000104687	1.8.1.7		4623	protein-coding gene	gene with protein product		138300					Standard	NM_000637		Approved		uc003xih.2	P00390	OTTHUMG00000163946	ENST00000221130.5:c.784C>T	8.37:g.30553908G>A	ENSP00000221130:p.Arg262Trp					GSR_ENST00000541648.1_Missense_Mutation_p.R262W|GSR_ENST00000546342.1_Missense_Mutation_p.R262W|GSR_ENST00000414019.1_Missense_Mutation_p.R219W|GSR_ENST00000537535.1_Missense_Mutation_p.R262W	p.R262W	NM_000637.3|NM_001195102.1|NM_001195103.1	NP_000628.2|NP_001182031.1|NP_001182032.1	P00390	GSHR_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.105)|Kidney(114;0.125)	7	874	-			262					C8KIL8|C8KIL9|C8KIM0|D3DSV3|Q7Z5C9|Q9NP63	Missense_Mutation	SNP	ENST00000221130.5	37	c.784C>T	CCDS34877.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.0|20.0	3.930075|3.930075	0.73327|0.73327	2.27E-4|2.27E-4	0.0|0.0	ENSG00000104687|ENSG00000104687	ENST00000221130;ENST00000414019;ENST00000546342;ENST00000541648;ENST00000537535|ENST00000520888	T;T;T;T;T|.	0.62639|.	0.01;0.01;0.01;0.01;0.01|.	5.83|5.83	3.98|3.98	0.46160|0.46160	Pyridine nucleotide-disulphide oxidoreductase, NAD-binding domain (1);Pyridine nucleotide-disulphide oxidoreductase, FAD/NAD(P)-binding domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.87398|0.87398	0.6167|0.6167	H|H	0.97491|0.97491	4.015|4.015	0.58432|0.58432	D|D	0.999999|0.999999	D|.	0.89917|.	1.0|.	D|.	0.97110|.	1.0|.	D|D	0.90241|0.90241	0.4286|0.4286	10|5	0.87932|.	D|.	0|.	-13.6855|-13.6855	12.9539|12.9539	0.58416|0.58416	0.0:0.0:0.6956:0.3044|0.0:0.0:0.6956:0.3044	.|.	262|.	P00390|.	GSHR_HUMAN|.	W|M	262;219;262;262;262|215	ENSP00000221130:R262W;ENSP00000390065:R219W;ENSP00000445516:R262W;ENSP00000444559:R262W;ENSP00000438845:R262W|.	ENSP00000221130:R262W|.	R|T	-|-	1|2	2|0	GSR|GSR	30673450|30673450	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.694000|0.694000	0.40290|0.40290	5.277000|5.277000	0.65586|0.65586	0.753000|0.753000	0.32945|0.32945	-0.182000|-0.182000	0.12963|0.12963	CGG|ACG		0.423	GSR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376519.1			39	47	0	0	0	1	0	39	47					A	30553908	G	A	30553908	3	1	435	1	0	0	0	0	1	0	0	0	6828	1144	40	1	812	1	GSR	8	30553908	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	137496	30553908	115810114	3994	24919											
TEX15	56154	broad.mit.edu	37	chr8	30703093	30703093	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgctattataataaactgaCtgacttgtactttgggatgt	11	16	8	6	0	0	2	0	2	0	0	0	3	0	3	0	1	3	2	0	1	6	7			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:30703093C>T	ENST00000256246.2	-	1	3515	c.3441G>A	c.(3439-3441)caG>caA	p.Q1147Q		NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	1147	Ser-rich.				fertilization (GO:0009566)|homeostasis of number of cells within a tissue (GO:0048873)|male genitalia development (GO:0030539)|male meiosis (GO:0007140)|protein localization to chromosome (GO:0034502)|regulation of double-strand break repair via homologous recombination (GO:0010569)|regulation of protein localization (GO:0032880)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)					NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		AATAAACTGACTGACTTGTAC	0.413																																						ENST00000256246.2																			0				NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138						c.(3439-3441)caG>caA		testis expressed 15							83	76	79					8																	30703093		2203	4299	6502	SO:0001819	synonymous_variant	56154							g.chr8:30703093C>T	AF285605	CCDS6080.1	8p22	2009-03-25	2007-03-13			ENSG00000133863			11738	protein-coding gene	gene with protein product	"cancer/testis antigen 42"	605795	"testis expressed sequence 15"			11279525	Standard	NM_031271		Approved	CT42	uc003xil.3	Q9BXT5		ENST00000256246.2:c.3441G>A	8.37:g.30703093C>T							p.Q1147Q	NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)	1	3515	-			1147			Ser-rich.			Silent	SNP	ENST00000256246.2	37	c.3441G>A	CCDS6080.1																																																																																				0.413	TEX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376193.1			22	31	0	0	0	1	0	22	31					T	30703093	C	T	30703093	2	4	435	1	0	0	0	0	0	0	0	1	15776	564	20	3		3	TEX15	8	30703093	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	149185	30703093	115660929	3995	24920											
TEX15	56154	broad.mit.edu	37	chr8	30704683	30704683	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aactggtatatctggtgatcGtcattatttaggcttaatgc	10	16	9	6	1	2	1	1	1	1	0	3	1	2	1	0	3	2	2	0	3	6	6	rs150062151	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:30704683G>A	ENST00000256246.2	-	1	1925	c.1851C>T	c.(1849-1851)gaC>gaT	p.D617D	TEX15_ENST00000523186.1_5'Flank	NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	617					fertilization (GO:0009566)|homeostasis of number of cells within a tissue (GO:0048873)|male genitalia development (GO:0030539)|male meiosis (GO:0007140)|protein localization to chromosome (GO:0034502)|regulation of double-strand break repair via homologous recombination (GO:0010569)|regulation of protein localization (GO:0032880)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)					NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		TCTGGTGATCGTCATTATTTA	0.378																																						ENST00000256246.2																			0				NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138						c.(1849-1851)gaC>gaT		testis expressed 15		G		0,4406		0,0,2203	100	95	97		1851	2.7	0	8	dbSNP_134	97	4,8596	3.7+/-12.6	0,4,4296	no	coding-synonymous	TEX15	NM_031271.3		0,4,6499	AA,AG,GG		0.0465,0.0,0.0308		617/2790	30704683	4,13002	2203	4300	6503	SO:0001819	synonymous_variant	56154							g.chr8:30704683G>A	AF285605	CCDS6080.1	8p22	2009-03-25	2007-03-13			ENSG00000133863			11738	protein-coding gene	gene with protein product	"cancer/testis antigen 42"	605795	"testis expressed sequence 15"			11279525	Standard	NM_031271		Approved	CT42	uc003xil.3	Q9BXT5		ENST00000256246.2:c.1851C>T	8.37:g.30704683G>A							p.D617D	NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)	1	1925	-			617						Silent	SNP	ENST00000256246.2	37	c.1851C>T	CCDS6080.1																																																																																				0.378	TEX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376193.1			17	66	0	0	0	1	0	17	66					A	30704683	G	A	30704683	2	1	435	1	0	0	0	0	0	0	0	1	15776	1136	40	1		1	TEX15	8	30704683	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	1590	30704683	115659339	3996	24921											
WRN	7486	broad.mit.edu	37	chr8	30958414	30958414	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cactgtatttctgagtggggGcatgattttagggattcatt	8	16	12	5	0	2	2	1	2	1	0	2	3	2	3	0	3	0	2	0	3	2	6			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:30958414G>A	ENST00000298139.5	+	18	2280	c.2031G>A	c.(2029-2031)ggG>ggA	p.G677G		NM_000553.4	NP_000544.2	Q14191	WRN_HUMAN	Werner syndrome, RecQ helicase-like	677	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				aging (GO:0007568)|ATP catabolic process (GO:0006200)|base-excision repair (GO:0006284)|cell aging (GO:0007569)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|cellular response to starvation (GO:0009267)|DNA duplex unwinding (GO:0032508)|DNA metabolic process (GO:0006259)|DNA recombination (GO:0006310)|DNA replication (GO:0006260)|DNA synthesis involved in DNA repair (GO:0000731)|double-strand break repair (GO:0006302)|multicellular organismal aging (GO:0010259)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleolus to nucleoplasm transport (GO:0032066)|positive regulation of hydrolase activity (GO:0051345)|regulation of apoptotic process (GO:0042981)|regulation of growth rate (GO:0040009)|replication fork processing (GO:0031297)|replicative cell aging (GO:0001302)|response to oxidative stress (GO:0006979)|response to UV-C (GO:0010225)|telomere maintenance (GO:0000723)	centrosome (GO:0005813)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	3'-5' DNA helicase activity (GO:0043138)|3'-5' exonuclease activity (GO:0008408)|ATP binding (GO:0005524)|ATP-dependent 3'-5' DNA helicase activity (GO:0043140)|ATP-dependent DNA helicase activity (GO:0004003)|ATPase activity (GO:0016887)|bubble DNA binding (GO:0000405)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|exonuclease activity (GO:0004527)|four-way junction helicase activity (GO:0009378)|G-quadruplex DNA binding (GO:0051880)|helicase activity (GO:0004386)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|protein complex binding (GO:0032403)|protein homodimerization activity (GO:0042803)|Y-form DNA binding (GO:0000403)			central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(13)|lung(28)|ovary(3)|skin(3)|upper_aerodigestive_tract(3)	60		Breast(100;0.195)		KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192)		CTGAGTGGGGGCATGATTTTA	0.408			"Mis, N, F, S"			"osteosarcoma, meningioma, others"		Genes defective in diseases associated with sensitivity to DNA damaging agents	Werner syndrome																												Ovarian(18;161 598 2706 14834 27543)	ENST00000298139.5			yes	Rec		Werner Syndrome	8	8p12-p11.2	7486	"Mis, N, F, S"	Werner syndrome (RECQL2)			"L, E, M, O"		"osteosarcoma, meningioma, others"			0				central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(13)|lung(28)|ovary(3)|skin(3)|upper_aerodigestive_tract(3)	60						c.(2029-2031)ggG>ggA	Genes defective in diseases associated with sensitivity to DNA damaging agents	Werner syndrome, RecQ helicase-like							99	91	94					8																	30958414		2203	4300	6503	SO:0001819	synonymous_variant	7486	Werner syndrome	Familial Cancer Database	WS, Adult Progeria	base-excision repair|cellular response to starvation|DNA recombination|DNA synthesis involved in DNA repair|multicellular organismal aging|nucleolus to nucleoplasm transport|positive regulation of hydrolase activity|regulation of apoptosis|replication fork processing|response to oxidative stress|response to UV-C|telomere maintenance	centrosome|nucleolus|nucleoplasm	3'-5' exonuclease activity|ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|four-way junction helicase activity|G-quadruplex DNA binding|magnesium ion binding|manganese ion binding|protein complex binding|protein homodimerization activity|Y-form DNA binding	g.chr8:30958414G>A		CCDS6082.1	8p12	2014-09-17	2009-03-19		ENSG00000165392	ENSG00000165392			12791	protein-coding gene	gene with protein product		604611	"Werner syndrome"			9288107	Standard	NM_000553		Approved	RECQL2, RECQ3	uc003xio.4	Q14191	OTTHUMG00000163894	ENST00000298139.5:c.2031G>A	8.37:g.30958414G>A							p.G677G	NM_000553.4	NP_000544.2	Q14191	WRN_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192)	18	2280	+		Breast(100;0.195)	677			Helicase ATP-binding.		A1KYY9	Silent	SNP	ENST00000298139.5	37	c.2031G>A	CCDS6082.1																																																																																				0.408	WRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376248.1			11	29	0	0	0	1	0	11	29					A	30958414	G	A	30958414	2	1	435	1	0	0	0	0	0	0	0	1	17399	1190	42	3		3	WRN	8	30958414	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	253731	30958414	115405608	3997	24922											
WRN	7486	broad.mit.edu	37	chr8	31007866	31007866	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gttaaacacagaccaactacGgttgaaaacgtaaaaaggat	19	7	8	7	2	0	2	0	1	0	1	0	3	0	3	1	2	4	3	1	2	9	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:31007866G>A	ENST00000298139.5	+	31	3831	c.3582G>A	c.(3580-3582)acG>acA	p.T1194T		NM_000553.4	NP_000544.2	Q14191	WRN_HUMAN	Werner syndrome, RecQ helicase-like	1194	HRDC. {ECO:0000255|PROSITE- ProRule:PRU00328}.				aging (GO:0007568)|ATP catabolic process (GO:0006200)|base-excision repair (GO:0006284)|cell aging (GO:0007569)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|cellular response to starvation (GO:0009267)|DNA duplex unwinding (GO:0032508)|DNA metabolic process (GO:0006259)|DNA recombination (GO:0006310)|DNA replication (GO:0006260)|DNA synthesis involved in DNA repair (GO:0000731)|double-strand break repair (GO:0006302)|multicellular organismal aging (GO:0010259)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleolus to nucleoplasm transport (GO:0032066)|positive regulation of hydrolase activity (GO:0051345)|regulation of apoptotic process (GO:0042981)|regulation of growth rate (GO:0040009)|replication fork processing (GO:0031297)|replicative cell aging (GO:0001302)|response to oxidative stress (GO:0006979)|response to UV-C (GO:0010225)|telomere maintenance (GO:0000723)	centrosome (GO:0005813)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	3'-5' DNA helicase activity (GO:0043138)|3'-5' exonuclease activity (GO:0008408)|ATP binding (GO:0005524)|ATP-dependent 3'-5' DNA helicase activity (GO:0043140)|ATP-dependent DNA helicase activity (GO:0004003)|ATPase activity (GO:0016887)|bubble DNA binding (GO:0000405)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|exonuclease activity (GO:0004527)|four-way junction helicase activity (GO:0009378)|G-quadruplex DNA binding (GO:0051880)|helicase activity (GO:0004386)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|protein complex binding (GO:0032403)|protein homodimerization activity (GO:0042803)|Y-form DNA binding (GO:0000403)			central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(13)|lung(28)|ovary(3)|skin(3)|upper_aerodigestive_tract(3)	60		Breast(100;0.195)		KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192)		GACCAACTACGGTTGAAAACG	0.408			"Mis, N, F, S"			"osteosarcoma, meningioma, others"		Genes defective in diseases associated with sensitivity to DNA damaging agents	Werner syndrome																												Ovarian(18;161 598 2706 14834 27543)	ENST00000298139.5			yes	Rec		Werner Syndrome	8	8p12-p11.2	7486	"Mis, N, F, S"	Werner syndrome (RECQL2)			"L, E, M, O"		"osteosarcoma, meningioma, others"			0				central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(13)|lung(28)|ovary(3)|skin(3)|upper_aerodigestive_tract(3)	60						c.(3580-3582)acG>acA	Genes defective in diseases associated with sensitivity to DNA damaging agents	Werner syndrome, RecQ helicase-like							103	98	100					8																	31007866		2203	4300	6503	SO:0001819	synonymous_variant	7486	Werner syndrome	Familial Cancer Database	WS, Adult Progeria	base-excision repair|cellular response to starvation|DNA recombination|DNA synthesis involved in DNA repair|multicellular organismal aging|nucleolus to nucleoplasm transport|positive regulation of hydrolase activity|regulation of apoptosis|replication fork processing|response to oxidative stress|response to UV-C|telomere maintenance	centrosome|nucleolus|nucleoplasm	3'-5' exonuclease activity|ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|four-way junction helicase activity|G-quadruplex DNA binding|magnesium ion binding|manganese ion binding|protein complex binding|protein homodimerization activity|Y-form DNA binding	g.chr8:31007866G>A		CCDS6082.1	8p12	2014-09-17	2009-03-19		ENSG00000165392	ENSG00000165392			12791	protein-coding gene	gene with protein product		604611	"Werner syndrome"			9288107	Standard	NM_000553		Approved	RECQL2, RECQ3	uc003xio.4	Q14191	OTTHUMG00000163894	ENST00000298139.5:c.3582G>A	8.37:g.31007866G>A							p.T1194T	NM_000553.4	NP_000544.2	Q14191	WRN_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192)	31	3831	+		Breast(100;0.195)	1194			HRDC.		A1KYY9	Silent	SNP	ENST00000298139.5	37	c.3582G>A	CCDS6082.1																																																																																				0.408	WRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376248.1			6	53	0	0	0	1	0	6	53					A	31007866	G	A	31007866	2	1	435	1	0	0	0	0	0	0	0	1	17399	1103	39	2		2	WRN	8	31007866	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	49452	31007866	115356156	3998	24923											
NRG1	3084	broad.mit.edu	37	chr8	32505513	32505513	+	Intron	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcagcctctgcctctgcatcGccggcctcaagtgggtattt	5	12	10	14	2	4	0	2	0	2	0	5	0	4	0	4	2	3	2	4	2	2	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:32505513G>A	ENST00000405005.3	+	5	502				NRG1_ENST00000287842.3_Intron|NRG1_ENST00000341377.5_Intron|NRG1_ENST00000520407.1_Intron|NRG1_ENST00000356819.4_Intron|NRG1_ENST00000520502.2_Missense_Mutation_p.A93T|NRG1_ENST00000287845.5_Intron|NRG1_ENST00000519301.1_Intron|NRG1_ENST00000338921.4_Intron|NRG1_ENST00000521670.1_Intron|NRG1_ENST00000523079.1_Intron			Q02297	NRG1_HUMAN	neuregulin 1						activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|cardiac conduction system development (GO:0003161)|cardiac muscle cell differentiation (GO:0055007)|cardiac muscle cell myoblast differentiation (GO:0060379)|cell communication (GO:0007154)|cell migration (GO:0016477)|cell morphogenesis (GO:0000902)|cell proliferation (GO:0008283)|cellular protein complex disassembly (GO:0043624)|embryo development (GO:0009790)|endocardial cell differentiation (GO:0060956)|epidermal growth factor receptor signaling pathway (GO:0007173)|ERBB signaling pathway (GO:0038127)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glial cell fate commitment (GO:0021781)|innate immune response (GO:0045087)|locomotory behavior (GO:0007626)|mammary gland development (GO:0030879)|MAPK cascade (GO:0000165)|negative regulation of cardiac muscle cell apoptotic process (GO:0010667)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of secretion (GO:0051048)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|neural crest cell development (GO:0014032)|neuron fate commitment (GO:0048663)|neurotransmitter receptor metabolic process (GO:0045213)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peripheral nervous system development (GO:0007422)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell growth (GO:0030307)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of Ras protein signal transduction (GO:0046579)|positive regulation of striated muscle cell differentiation (GO:0051155)|regulation of protein heterodimerization activity (GO:0043497)|regulation of protein homodimerization activity (GO:0043496)|synapse assembly (GO:0007416)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|ventricular cardiac muscle cell differentiation (GO:0055012)|ventricular trabecula myocardium morphogenesis (GO:0003222)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|axon (GO:0030424)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)	cytokine activity (GO:0005125)|ErbB-3 class receptor binding (GO:0043125)|growth factor activity (GO:0008083)|protein tyrosine kinase activator activity (GO:0030296)|receptor binding (GO:0005102)|receptor tyrosine kinase binding (GO:0030971)|transcription cofactor activity (GO:0003712)|transmembrane receptor protein tyrosine kinase activator activity (GO:0030297)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(1)|skin(1)	39		Breast(100;0.203)		KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943)		CCTCTGCATCGCCGGCCTCAA	0.537																																						ENST00000520502.2																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(1)|skin(1)	39						c.(277-279)Gcc>Acc		neuregulin 1							111	113	112					8																	32505513		2203	4300	6503	SO:0001627	intron_variant	3084				activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|cardiac muscle cell differentiation|cell communication|cell proliferation|cellular protein complex disassembly|embryo development|mammary gland development|negative regulation of cardiac muscle cell apoptosis|negative regulation of secretion|negative regulation of transcription, DNA-dependent|nervous system development|neural crest cell development|Notch signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of striated muscle cell differentiation|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|transmembrane receptor protein tyrosine kinase signaling pathway|ventricular cardiac muscle cell differentiation|wound healing	apical plasma membrane|extracellular region|extracellular space|integral to membrane|nucleus|plasma membrane	cytokine activity|ErbB-3 class receptor binding|growth factor activity|protein binding|protein tyrosine kinase activator activity|receptor tyrosine kinase binding|transcription cofactor activity|transmembrane receptor protein tyrosine kinase activator activity	g.chr8:32505513G>A	L12261	CCDS6084.1, CCDS6085.1, CCDS6086.1, CCDS6087.1, CCDS47836.1, CCDS55218.1, CCDS55219.1, CCDS75727.1	8p21-p12	2014-06-23			ENSG00000157168	ENSG00000157168		"Immunoglobulin superfamily / I-set domain containing"	7997	protein-coding gene	gene with protein product		142445	"NRG1 intronic transcript 2 (non-protein coding)"	HGL, NRG1-IT2		1350381, 8095334	Standard	NM_013962		Approved	HRG, NDF, GGF	uc003xiu.2	Q02297	OTTHUMG00000163918	ENST00000405005.3:c.502+31110G>A	8.37:g.32505513G>A						NRG1_ENST00000287842.3_Intron|NRG1_ENST00000523079.1_Intron|NRG1_ENST00000287845.5_Intron|NRG1_ENST00000341377.5_Intron|NRG1_ENST00000356819.4_Intron|NRG1_ENST00000287840.5_Intron|NRG1_ENST00000405005.2_Intron|NRG1_ENST00000338921.4_Intron|NRG1_ENST00000520407.1_Intron|NRG1_ENST00000521670.1_Intron|NRG1_ENST00000519301.1_Intron	p.A93T	NM_013959.3	NP_039253.1	Q02297	NRG1_HUMAN		KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943)	1	277	+		Breast(100;0.203)	0			Ig-like C2-type.		A5YAK4|A5YAK5|A8K1L2|B7Z4Z3|E9PHH4|O14667|P98202|Q02298|Q02299|Q07110|Q07111|Q12779|Q12780|Q12781|Q12782|Q12783|Q12784|Q15491|Q7RTV9|Q7RTW0|Q7RTW1|Q7RTW2|Q8NFN1|Q8NFN2|Q8NFN3|Q9UPE3	Missense_Mutation	SNP	ENST00000405005.3	37	c.277G>A	CCDS6085.1	.	.	.	.	.	.	.	.	.	.	G	24.4	4.531917	0.85706	.	.	ENSG00000157168	ENST00000520502;ENST00000523041	.	.	.	5.98	5.98	0.97165	.	.	.	.	.	T	0.73305	0.3570	L	0.34521	1.04	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.73582	-0.3937	8	0.62326	D	0.03	.	20.4434	0.99119	0.0:0.0:1.0:0.0	.	93;93	Q53F54;Q02297-10	.;.	T	93;53	.	ENSP00000433289:A93T	A	+	1	0	NRG1	32625055	1.000000	0.71417	0.998000	0.56505	0.950000	0.60333	9.320000	0.96346	2.838000	0.97847	0.655000	0.94253	GCC		0.537	NRG1-017	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000472504.1			39	58	0	0	0	1	0	39	58					A	32505513	G	A	32505513	1	1	435	0	1	0	0	0	0	0	0	0	10647	1087	38	1		1	NRG1	8	32505513	Intron	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	1497647	32505513	113858509	3999	24924											
UNC5D	137970	broad.mit.edu	37	chr8	35541090	35541090	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	atggctgaaaaatgaagagcCcattgactctgaacaagacg	16	7	10	8	1	1	6	0	4	1	2	1	6	1	6	1	1	2	1	1	1	5	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:35541090C>T	ENST00000404895.2	+	5	924	c.596C>T	c.(595-597)cCc>cTc	p.P199L	UNC5D_ENST00000287272.2_Missense_Mutation_p.P199L|UNC5D_ENST00000416672.1_Missense_Mutation_p.P199L|UNC5D_ENST00000453357.2_Missense_Mutation_p.P194L|UNC5D_ENST00000420357.1_Missense_Mutation_p.P199L	NM_080872.2	NP_543148.2	Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D (C. elegans)	199	Ig-like C2-type.				apoptotic process (GO:0006915)|axon guidance (GO:0007411)|pyramidal neuron differentiation (GO:0021859)|regulation of neuron migration (GO:2001222)|signal transduction (GO:0007165)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)				NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		AATGAAGAGCCCATTGACTCT	0.438																																						ENST00000287272.2																			0				NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112						c.(595-597)cCc>cTc		unc-5 homolog D (C. elegans)							90	80	84					8																	35541090		2203	4300	6503	SO:0001583	missense	137970				apoptosis|axon guidance	integral to membrane	receptor activity	g.chr8:35541090C>T	AB055056	CCDS6093.2	8p12	2013-01-11			ENSG00000156687	ENSG00000156687		"Immunoglobulin superfamily / I-set domain containing"	18634	protein-coding gene	gene with protein product						18402767	Standard	NM_080872		Approved	KIAA1777, Unc5h4	uc003xjr.2	Q6UXZ4	OTTHUMG00000157145	ENST00000404895.2:c.596C>T	8.37:g.35541090C>T	ENSP00000385143:p.Pro199Leu					UNC5D_ENST00000453357.2_Missense_Mutation_p.P194L|UNC5D_ENST00000416672.1_Missense_Mutation_p.P199L|UNC5D_ENST00000404895.2_Missense_Mutation_p.P199L|UNC5D_ENST00000420357.1_Missense_Mutation_p.P199L	p.P199L			Q6UXZ4	UNC5D_HUMAN		READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)	5	616	+			199			Ig-like C2-type.		Q8WYP7	Missense_Mutation	SNP	ENST00000404895.2	37	c.596C>T	CCDS6093.2	.	.	.	.	.	.	.	.	.	.	C	10.50	1.367271	0.24771	.	.	ENSG00000156687	ENST00000404895;ENST00000420357;ENST00000287272;ENST00000416672;ENST00000453357	T;T;T;T;T	0.68025	-0.3;-0.3;-0.3;-0.3;-0.3	5.39	5.39	0.77823	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.261461	0.40469	N	0.001091	T	0.44201	0.1282	N	0.12663	0.25	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.08055	0.002;0.003	T	0.37549	-0.9701	10	0.13853	T	0.58	-22.7175	10.0845	0.42410	0.0:0.8511:0.0:0.1489	.	194;199	Q6UXZ4-2;Q6UXZ4	.;UNC5D_HUMAN	L	199;199;199;199;194	ENSP00000385143:P199L;ENSP00000392739:P199L;ENSP00000287272:P199L;ENSP00000412652:P199L;ENSP00000394303:P194L	ENSP00000287272:P199L	P	+	2	0	UNC5D	35660632	0.985000	0.35326	1.000000	0.80357	0.974000	0.67602	1.151000	0.31651	2.709000	0.92574	0.655000	0.94253	CCC		0.438	UNC5D-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000347586.2			6	21	0	0	0	1	0	6	21					T	35541090	C	T	35541090	3	4	435	1	0	0	0	0	1	0	0	0	16992	623	22	3	614	3	UNC5D	8	35541090	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	3035577	35541090	110822932	4000	24925											
UNC5D	137970	broad.mit.edu	37	chr8	35647892	35647892	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tctaggaatttatcttatttCgctacacaaagtagcccatc	12	14	5	10	1	2	0	0	0	2	0	4	1	2	1	1	1	2	2	1	1	7	7			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:35647892C>T	ENST00000404895.2	+	17	3001	c.2673C>T	c.(2671-2673)ttC>ttT	p.F891F	UNC5D_ENST00000287272.2_Silent_p.F822F|UNC5D_ENST00000449677.1_Silent_p.F467F|UNC5D_ENST00000416672.1_Silent_p.F896F|AC012215.1_ENST00000437887.1_5'Flank|UNC5D_ENST00000453357.2_Silent_p.F886F|UNC5D_ENST00000420357.1_Silent_p.F824F	NM_080872.2	NP_543148.2	Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D (C. elegans)	891	Death.				apoptotic process (GO:0006915)|axon guidance (GO:0007411)|pyramidal neuron differentiation (GO:0021859)|regulation of neuron migration (GO:2001222)|signal transduction (GO:0007165)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)				NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		TATCTTATTTCGCTACACAAA	0.393																																						ENST00000287272.2																			0				NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112						c.(2464-2466)ttC>ttT		unc-5 homolog D (C. elegans)							111	100	104					8																	35647892		2203	4300	6503	SO:0001819	synonymous_variant	137970				apoptosis|axon guidance	integral to membrane	receptor activity	g.chr8:35647892C>T	AB055056	CCDS6093.2	8p12	2013-01-11			ENSG00000156687	ENSG00000156687		"Immunoglobulin superfamily / I-set domain containing"	18634	protein-coding gene	gene with protein product						18402767	Standard	NM_080872		Approved	KIAA1777, Unc5h4	uc003xjr.2	Q6UXZ4	OTTHUMG00000157145	ENST00000404895.2:c.2673C>T	8.37:g.35647892C>T						UNC5D_ENST00000453357.2_Silent_p.F886F|UNC5D_ENST00000449677.1_Silent_p.F467F|UNC5D_ENST00000416672.1_Silent_p.F896F|UNC5D_ENST00000404895.2_Silent_p.F891F|UNC5D_ENST00000420357.1_Silent_p.F824F	p.F822F			Q6UXZ4	UNC5D_HUMAN		READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)	16	2486	+			891					Q8WYP7	Silent	SNP	ENST00000404895.2	37	c.2466C>T	CCDS6093.2																																																																																				0.393	UNC5D-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000347586.2			5	69	0	0	0	1	0	5	69					T	35647892	C	T	35647892	2	4	435	1	0	0	0	0	0	0	0	1	16992	883	31	2		2	UNC5D	8	35647892	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	106802	35647892	110716130	4001	24926											
KCNU1	157855	broad.mit.edu	37	chr8	36675211	36675211	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcactgtggacagtgtgaccGctttcctgaggaatttcctc	7	13	10	11	1	1	2	1	2	0	0	4	4	3	4	3	2	0	1	3	2	1	2	rs201465659		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:36675211G>A	ENST00000399881.3	+	10	1076	c.1039G>A	c.(1039-1041)Gct>Act	p.A347T		NM_001031836.2	NP_001027006.2	A8MYU2	KCNU1_HUMAN	potassium channel, subfamily U, member 1	347	RCK N-terminal.				multicellular organism reproduction (GO:0032504)|potassium ion transmembrane transport (GO:0071805)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	large conductance calcium-activated potassium channel activity (GO:0060072)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)	p.A347T(2)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1)	57				KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)		CAGTGTGACCGCTTTCCTGAG	0.468																																						ENST00000399881.3																			2	Substitution - Missense(2)	p.A347T(2)	central_nervous_system(2)	breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1)	57						c.(1039-1041)Gct>Act		potassium channel, subfamily U, member 1							173	159	163					8																	36675211		1939	4138	6077	SO:0001583	missense	157855					voltage-gated potassium channel complex	binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity	g.chr8:36675211G>A	BC028701	CCDS55220.1	8p11.2	2012-07-05				ENSG00000215262		"Potassium channels", "Voltage-gated ion channels / Potassium channels, calcium-activated"	18867	protein-coding gene	gene with protein product		615215				16382103	Standard	NM_001031836		Approved	KCa5.1, Slo3, KCNMC1, Kcnma3	uc010lvw.3	A8MYU2		ENST00000399881.3:c.1039G>A	8.37:g.36675211G>A	ENSP00000382770:p.Ala347Thr						p.A347T	NM_001031836.2	NP_001027006.2	A8MYU2	KCNU1_HUMAN		KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)	10	1076	+			347			RCK N-terminal.			Missense_Mutation	SNP	ENST00000399881.3	37	c.1039G>A	CCDS55220.1	.	.	.	.	.	.	.	.	.	.	G	11.17	1.559510	0.27827	.	.	ENSG00000215262	ENST00000399881	T	0.30182	1.54	5.31	3.39	0.38822	.	0.199578	0.24039	U	0.042118	T	0.34600	0.0903	L	0.31664	0.95	0.80722	D	1	D	0.89917	1.0	P	0.57620	0.824	T	0.04103	-1.0977	10	0.31617	T	0.26	-13.5186	12.5296	0.56106	0.0:0.0:0.7027:0.2973	.	347	A8MYU2	KCNU1_HUMAN	T	347	ENSP00000382770:A347T	ENSP00000382770:A347T	A	+	1	0	KCNU1	36794369	1.000000	0.71417	0.898000	0.35279	0.964000	0.63967	4.064000	0.57506	1.344000	0.45657	0.655000	0.94253	GCT		0.468	KCNU1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376631.1	NM_001031836		19	53	0	0	0	1	0	19	53					A	36675211	G	A	36675211	3	1	435	1	0	0	0	0	1	0	0	0	8093	1087	38	1	1077	1	KCNU1	8	36675211	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	1027319	36675211	109688811	4002	24927											
KCNU1	157855	broad.mit.edu	37	chr8	36698503	36698503	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agccatcgaatacaagtcccTctttacggatggtttctggt	9	13	9	10	2	2	0	0	0	2	0	4	2	3	1	2	3	3	1	2	3	4	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:36698503T>C	ENST00000399881.3	+	16	1722	c.1685T>C	c.(1684-1686)cTc>cCc	p.L562P		NM_001031836.2	NP_001027006.2	A8MYU2	KCNU1_HUMAN	potassium channel, subfamily U, member 1	562					multicellular organism reproduction (GO:0032504)|potassium ion transmembrane transport (GO:0071805)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	large conductance calcium-activated potassium channel activity (GO:0060072)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1)	57				KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)		TACAAGTCCCTCTTTACGGAT	0.403																																						ENST00000399881.3																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1)	57						c.(1684-1686)cTc>cCc		potassium channel, subfamily U, member 1							168	150	156					8																	36698503		1958	4151	6109	SO:0001583	missense	157855					voltage-gated potassium channel complex	binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity	g.chr8:36698503T>C	BC028701	CCDS55220.1	8p11.2	2012-07-05				ENSG00000215262		"Potassium channels", "Voltage-gated ion channels / Potassium channels, calcium-activated"	18867	protein-coding gene	gene with protein product		615215				16382103	Standard	NM_001031836		Approved	KCa5.1, Slo3, KCNMC1, Kcnma3	uc010lvw.3	A8MYU2		ENST00000399881.3:c.1685T>C	8.37:g.36698503T>C	ENSP00000382770:p.Leu562Pro						p.L562P	NM_001031836.2	NP_001027006.2	A8MYU2	KCNU1_HUMAN		KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)	16	1722	+			562						Missense_Mutation	SNP	ENST00000399881.3	37	c.1685T>C	CCDS55220.1	.	.	.	.	.	.	.	.	.	.	T	8.707	0.911141	0.17833	.	.	ENSG00000215262	ENST00000399881	T	0.31769	1.48	5.06	-10.1	0.00402	.	.	.	.	.	T	0.13586	0.0329	L	0.34521	1.04	0.09310	N	1	P	0.39964	0.697	B	0.35353	0.201	T	0.06373	-1.0830	9	0.34782	T	0.22	-4.8726	2.8144	0.05452	0.189:0.4645:0.1931:0.1534	.	562	A8MYU2	KCNU1_HUMAN	P	562	ENSP00000382770:L562P	ENSP00000382770:L562P	L	+	2	0	KCNU1	36817661	0.000000	0.05858	0.000000	0.03702	0.207000	0.24258	-0.737000	0.04877	-1.794000	0.01256	0.528000	0.53228	CTC		0.403	KCNU1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376631.1	NM_001031836		11	19	0	0	0	1	0	11	19					C	36698503	T	C	36698503	3	2	435	1	0	0	0	0	1	0	0	0	8093	1551	54	4	1747	4	KCNU1	8	36698503	Missense_Mutation	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	23292	36698503	109665519	4003	24928											
KCNU1	157855	broad.mit.edu	37	chr8	36768621	36768621	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attgactcctcctctgacccGtcaccctcagtgtcaggtga	7	11	8	15	1	4	3	3	3	1	0	6	3	6	3	4	1	0	0	4	1	0	1	rs377444778		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:36768621G>A	ENST00000399881.3	+	22	2542	c.2505G>A	c.(2503-2505)ccG>ccA	p.P835P		NM_001031836.2	NP_001027006.2	A8MYU2	KCNU1_HUMAN	potassium channel, subfamily U, member 1	835					multicellular organism reproduction (GO:0032504)|potassium ion transmembrane transport (GO:0071805)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	large conductance calcium-activated potassium channel activity (GO:0060072)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1)	57				KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)		CCTCTGACCCGTCACCCTCAG	0.463													G|||	1	0.000199681	8e-04	0	5008	,	,		18610	0		0	False		,,,				2504	0					ENST00000399881.3																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1)	57						c.(2503-2505)ccG>ccA		potassium channel, subfamily U, member 1		G		3,3983		0,3,1990	65	65	65		2505	-1	0	8		65	0,8378		0,0,4189	no	coding-synonymous	KCNU1	NM_001031836.2		0,3,6179	AA,AG,GG		0.0,0.0753,0.0243		835/1150	36768621	3,12361	1993	4189	6182	SO:0001819	synonymous_variant	157855					voltage-gated potassium channel complex	binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity	g.chr8:36768621G>A	BC028701	CCDS55220.1	8p11.2	2012-07-05				ENSG00000215262		"Potassium channels", "Voltage-gated ion channels / Potassium channels, calcium-activated"	18867	protein-coding gene	gene with protein product		615215				16382103	Standard	NM_001031836		Approved	KCa5.1, Slo3, KCNMC1, Kcnma3	uc010lvw.3	A8MYU2		ENST00000399881.3:c.2505G>A	8.37:g.36768621G>A							p.P835P	NM_001031836.2	NP_001027006.2	A8MYU2	KCNU1_HUMAN		KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)	22	2542	+			835						Silent	SNP	ENST00000399881.3	37	c.2505G>A	CCDS55220.1																																																																																				0.463	KCNU1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376631.1	NM_001031836		4	8	0	0	0	1	0	4	8					A	36768621	G	A	36768621	2	1	435	1	0	0	0	0	0	0	0	1	8093	1132	40	1		1	KCNU1	8	36768621	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	70118	36768621	109595401	4004	24929											
GPR124	25960	broad.mit.edu	37	chr8	37691600	37691600	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	catcgtgggtgccctggagcGcattgggggggccgccctca	4	7	17	13	3	1	0	1	0	0	0	2	1	1	1	3	5	2	1	3	5	0	1	rs376864601		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:37691600G>A	ENST00000412232.2	+	11	1575	c.1562G>A	c.(1561-1563)cGc>cAc	p.R521H	GPR124_ENST00000315215.7_Missense_Mutation_p.R521H	NM_032777.9	NP_116166.9	Q96PE1	GP124_HUMAN	G protein-coupled receptor 124	521					central nervous system development (GO:0007417)|endothelial cell migration (GO:0043542)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of vascular endothelial growth factor signaling pathway (GO:1900747)|neuropeptide signaling pathway (GO:0007218)|positive regulation of endothelial cell migration (GO:0010595)|regulation of angiogenesis (GO:0045765)|regulation of chemotaxis (GO:0050920)|regulation of establishment of blood-brain barrier (GO:0090210)|sprouting angiogenesis (GO:0002040)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(16)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	37			BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)			GCCCTGGAGCGCATTGGGGGG	0.687																																						ENST00000315215.7																			0				central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(16)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	37						c.(1561-1563)cGc>cAc		G protein-coupled receptor 124		G	HIS/ARG	0,4392		0,0,2196	24	29	28		1562	4.6	1	8		28	1,8575		0,1,4287	no	missense	GPR124	NM_032777.9	29	0,1,6483	AA,AG,GG		0.0117,0.0,0.0077	possibly-damaging	521/1339	37691600	1,12967	2196	4288	6484	SO:0001583	missense	25960				central nervous system development|endothelial cell migration|neuropeptide signaling pathway|regulation of angiogenesis|regulation of chemotaxis|sprouting angiogenesis	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr8:37691600G>A	AB040964	CCDS6097.2	8p11.22	2014-08-08			ENSG00000020181	ENSG00000020181		"-", "GPCR / Class B : Orphans", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	17849	protein-coding gene	gene with protein product	"tumor endothelial marker 5"	606823				11559528, 12565841	Standard	NM_032777		Approved	TEM5, DKFZp434C211, DKFZp434J0911, KIAA1531, FLJ14390	uc003xkj.3	Q96PE1	OTTHUMG00000156182	ENST00000412232.2:c.1562G>A	8.37:g.37691600G>A	ENSP00000406367:p.Arg521His					GPR124_ENST00000412232.2_Missense_Mutation_p.R521H	p.R521H			Q96PE1	GP124_HUMAN	BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)		11	1925	+			521					A6H8W3|D3DSW4|Q8N3R1|Q8TEM3|Q96KB2|Q9P1Z7|Q9UFY4	Missense_Mutation	SNP	ENST00000412232.2	37	c.1562G>A	CCDS6097.2	.	.	.	.	.	.	.	.	.	.	G	12.31	1.899110	0.33535	0.0	1.17E-4	ENSG00000020181	ENST00000416514;ENST00000315215;ENST00000412232	T;T	0.59906	0.23;0.31	4.59	4.59	0.56863	.	0.382752	0.24332	N	0.039449	T	0.43166	0.1235	L	0.40543	1.245	0.29614	N	0.846699	P;P	0.43024	0.797;0.798	B;B	0.35182	0.186;0.197	T	0.53436	-0.8439	10	0.62326	D	0.03	-12.334	8.581	0.33628	0.1733:0.0:0.8267:0.0	.	521;521	Q96PE1-2;Q96PE1	.;GP124_HUMAN	H	514;521;521	ENSP00000323508:R521H;ENSP00000406367:R521H	ENSP00000323508:R521H	R	+	2	0	GPR124	37810758	1.000000	0.71417	0.999000	0.59377	0.366000	0.29705	1.749000	0.38319	2.108000	0.64289	0.456000	0.33151	CGC		0.687	GPR124-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343331.2			14	17	0	0	0	1	0	14	17					A	37691600	G	A	37691600	3	1	435	1	0	0	0	0	1	0	0	0	6638	1087	38	1	1583	1	GPR124	8	37691600	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	922979	37691600	108672422	4005	24930											
GPR124	25960	broad.mit.edu	37	chr8	37698931	37698931	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctaggggcgctggtgaccacGcacttcctgtacttggccat	6	10	12	13	2	0	1	0	1	0	0	1	1	1	1	3	4	1	3	3	4	2	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:37698931G>A	ENST00000412232.2	+	19	3088	c.3075G>A	c.(3073-3075)acG>acA	p.T1025T	GPR124_ENST00000315215.7_Silent_p.T808T	NM_032777.9	NP_116166.9	Q96PE1	GP124_HUMAN	G protein-coupled receptor 124	1025					central nervous system development (GO:0007417)|endothelial cell migration (GO:0043542)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of vascular endothelial growth factor signaling pathway (GO:1900747)|neuropeptide signaling pathway (GO:0007218)|positive regulation of endothelial cell migration (GO:0010595)|regulation of angiogenesis (GO:0045765)|regulation of chemotaxis (GO:0050920)|regulation of establishment of blood-brain barrier (GO:0090210)|sprouting angiogenesis (GO:0002040)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(16)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	37			BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)			TGGTGACCACGCACTTCCTGT	0.682																																						ENST00000315215.7																			0				central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(16)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	37						c.(2422-2424)acG>acA		G protein-coupled receptor 124							27	27	27					8																	37698931		2202	4299	6501	SO:0001819	synonymous_variant	25960				central nervous system development|endothelial cell migration|neuropeptide signaling pathway|regulation of angiogenesis|regulation of chemotaxis|sprouting angiogenesis	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr8:37698931G>A	AB040964	CCDS6097.2	8p11.22	2014-08-08			ENSG00000020181	ENSG00000020181		"-", "GPCR / Class B : Orphans", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	17849	protein-coding gene	gene with protein product	"tumor endothelial marker 5"	606823				11559528, 12565841	Standard	NM_032777		Approved	TEM5, DKFZp434C211, DKFZp434J0911, KIAA1531, FLJ14390	uc003xkj.3	Q96PE1	OTTHUMG00000156182	ENST00000412232.2:c.3075G>A	8.37:g.37698931G>A						GPR124_ENST00000412232.2_Silent_p.T1025T	p.T808T			Q96PE1	GP124_HUMAN	BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)		16	2787	+			1025					A6H8W3|D3DSW4|Q8N3R1|Q8TEM3|Q96KB2|Q9P1Z7|Q9UFY4	Silent	SNP	ENST00000412232.2	37	c.2424G>A	CCDS6097.2	.	.	.	.	.	.	.	.	.	.	G	9.946	1.218813	0.22373	.	.	ENSG00000020181	ENST00000416514	.	.	.	4.95	1.91	0.25777	.	.	.	.	.	T	0.51991	0.1707	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.45469	-0.9259	4	.	.	.	-19.9603	5.0396	0.14452	0.0897:0.2864:0.5075:0.1164	.	.	.	.	T	1018	.	.	A	+	1	0	GPR124	37818089	0.001000	0.12720	1.000000	0.80357	0.997000	0.91878	-1.615000	0.02055	1.079000	0.41038	0.650000	0.86243	GCA		0.682	GPR124-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343331.2			4	14	0	0	0	1	0	4	14					A	37698931	G	A	37698931	2	1	435	1	0	0	0	0	0	0	0	1	6638	1074	38	1		1	GPR124	8	37698931	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	7331	37698931	108665091	4006	24931											
BRF2	25960	broad.mit.edu	37	chr8	37702215	37702215	+	IGR	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aagagaagggcaggactggcCggccgcttcccctggggtaa	9	5	16	11	2	0	1	0	0	0	1	1	3	1	2	4	6	0	3	4	6	3	2	rs372826156		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:37702215C>T	ENST00000412232.2	+	0	5651				GPR124_ENST00000315215.7_3'UTR|BRF2_ENST00000220659.6_Silent_p.P351P	NM_032777.9	NP_116166.9	Q96PE1	GP124_HUMAN	G protein-coupled receptor 124						central nervous system development (GO:0007417)|endothelial cell migration (GO:0043542)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of vascular endothelial growth factor signaling pathway (GO:1900747)|neuropeptide signaling pathway (GO:0007218)|positive regulation of endothelial cell migration (GO:0010595)|regulation of angiogenesis (GO:0045765)|regulation of chemotaxis (GO:0050920)|regulation of establishment of blood-brain barrier (GO:0090210)|sprouting angiogenesis (GO:0002040)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(16)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	37			BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)			CAGGACTGGCCGGCCGCTTCC	0.592																																						ENST00000220659.6																			0				breast(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(5)|ovary(1)	12						c.(1051-1053)ccG>ccA		BRF2, RNA polymerase III transcription initiation factor 50 kDa subunit		T		0,4406		0,0,2203	52	45	47		1053	-10.6	0	8		47	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	BRF2	NM_018310.3		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		351/420	37702215	1,13005	2203	4300	6503	SO:0001628	intergenic_variant	55290				regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter|transcription initiation, DNA-dependent	nucleoplasm	protein binding|zinc ion binding	g.chr8:37702215C>T	AB040964	CCDS6097.2	8p11.22	2014-08-08			ENSG00000020181	ENSG00000020181		"-", "GPCR / Class B : Orphans", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	17849	protein-coding gene	gene with protein product	"tumor endothelial marker 5"	606823				11559528, 12565841	Standard	NM_032777		Approved	TEM5, DKFZp434C211, DKFZp434J0911, KIAA1531, FLJ14390	uc003xkj.3	Q96PE1	OTTHUMG00000156182		8.37:g.37702215C>T						GPR124_ENST00000315215.7_3'UTR	p.P351P	NM_018310.3	NP_060780.2	Q9HAW0	BRF2_HUMAN	BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;1.81e-10)		4	1173	-		Lung NSC(58;0.118)|all_lung(54;0.195)	351					A6H8W3|D3DSW4|Q8N3R1|Q8TEM3|Q96KB2|Q9P1Z7|Q9UFY4	Silent	SNP	ENST00000412232.2	37	c.1053G>A	CCDS6097.2																																																																																				0.592	GPR124-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343331.2			3	19	0	0	0	1	0	3	19					T	37702215	C	T	37702215	1	4	435	0	1	0	0	0	0	0	0	0	1511	639	23	2		2	BRF2	8	37702215	IGR	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	3284	37702215	108661807	4007	24932											
BRF2	55290	broad.mit.edu	37	chr8	37704638	37704638	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tagtaggcaaccgcggtatcCtcaaatgttggtggcaactg	10	10	12	9	2	1	0	1	0	0	0	2	0	2	0	2	4	2	5	2	4	6	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:37704638C>A	ENST00000220659.6	-	3	390	c.270G>T	c.(268-270)gaG>gaT	p.E90D	BRF2_ENST00000521170.1_3'UTR|BRF2_ENST00000520601.1_Missense_Mutation_p.E90D	NM_018310.3	NP_060780.2	P47974	TISD_HUMAN	BRF2, RNA polymerase III transcription initiation factor 50 kDa subunit	0					cell proliferation (GO:0008283)|definitive hemopoiesis (GO:0060216)|hemopoiesis (GO:0030097)|mRNA catabolic process (GO:0006402)|negative regulation of stem cell differentiation (GO:2000737)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|regulation of mRNA stability (GO:0043488)|regulation of transcription, DNA-templated (GO:0006355)|somatic stem cell division (GO:0048103)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	AU-rich element binding (GO:0017091)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|mRNA 3'-UTR AU-rich region binding (GO:0035925)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(5)|ovary(1)	12		Lung NSC(58;0.118)|all_lung(54;0.195)	BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;1.81e-10)			CCGCGGTATCCTCAAATGTTG	0.542																																						ENST00000220659.6																			0				breast(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(5)|ovary(1)	12						c.(268-270)gaG>gaT		BRF2, RNA polymerase III transcription initiation factor 50 kDa subunit							130	120	123					8																	37704638		2203	4300	6503	SO:0001583	missense	55290				regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter|transcription initiation, DNA-dependent	nucleoplasm	protein binding|zinc ion binding	g.chr8:37704638C>A	AF298153	CCDS6098.1	8p11.23	2013-05-29	2013-05-29		ENSG00000104221	ENSG00000104221			17298	protein-coding gene	gene with protein product		607013	"BRF2, subunit of RNA polymerase III transcription initiation factor, BRF1-like"			11483580, 11564744	Standard	NM_018310		Approved	FLJ11052, BRFU, TFIIIB50	uc003xkk.3	Q9HAW0	OTTHUMG00000164025	ENST00000220659.6:c.270G>T	8.37:g.37704638C>A	ENSP00000220659:p.Glu90Asp					BRF2_ENST00000520601.1_Missense_Mutation_p.E90D|BRF2_ENST00000521170.1_3'UTR	p.E90D	NM_018310.3	NP_060780.2	Q9HAW0	BRF2_HUMAN	BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;1.81e-10)		3	390	-		Lung NSC(58;0.118)|all_lung(54;0.195)	90					Q53TB4|Q9BSJ3	Missense_Mutation	SNP	ENST00000220659.6	37	c.270G>T	CCDS6098.1	.	.	.	.	.	.	.	.	.	.	C	19.34	3.808271	0.70797	.	.	ENSG00000104221	ENST00000220659;ENST00000545765;ENST00000520601	.	.	.	5.68	1.89	0.25635	Cyclin-like (3);	0.000000	0.85682	D	0.000000	T	0.43122	0.1233	L	0.56769	1.78	0.80722	D	1	P	0.45176	0.852	B	0.41299	0.353	T	0.31475	-0.9942	9	0.12766	T	0.61	.	9.2508	0.37554	0.0:0.585:0.0:0.415	.	90	Q9HAW0	BRF2_HUMAN	D	90;67;90	.	ENSP00000220659:E90D	E	-	3	2	BRF2	37823796	0.987000	0.35691	0.999000	0.59377	0.974000	0.67602	0.437000	0.21543	0.355000	0.24131	0.555000	0.69702	GAG		0.542	BRF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376811.2	NM_018310		27	57	1	0	2.24059e-21	1	2.48785e-21	27	57					A	37704638	C	A	37704638	3	1	435	1	0	0	0	0	1	0	0	0	1511	680	24	5	997	5	BRF2	8	37704638	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	2423	37704638	108659384	4008	24933											
GOT1L1	137362	broad.mit.edu	37	chr8	37794824	37794824	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	attgaggagtatgtcggggtCcatgcatagcttcttggggt	7	13	15	6	1	1	1	0	1	1	0	3	2	2	2	1	5	2	3	1	5	2	5	rs367552836		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:37794824C>T	ENST00000307599.4	-	4	589	c.490G>A	c.(490-492)Gac>Aac	p.D164N	GOT1L1_ENST00000518826.1_5'Flank	NM_152413.2	NP_689626.2	Q8NHS2	AATC2_HUMAN	glutamic-oxaloacetic transaminase 1-like 1	164					biosynthetic process (GO:0009058)|cellular amino acid metabolic process (GO:0006520)	cytoplasm (GO:0005737)	pyridoxal phosphate binding (GO:0030170)|transaminase activity (GO:0008483)			central_nervous_system(1)|endometrium(3)|lung(8)|ovary(1)|prostate(1)	14	Colorectal(12;0.00627)	Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;1.37e-11)			ATGTCGGGGTCCATGCATAGC	0.547																																						ENST00000307599.4																			0				central_nervous_system(1)|endometrium(3)|lung(8)|ovary(1)|prostate(1)	14						c.(490-492)Gac>Aac		glutamic-oxaloacetic transaminase 1-like 1							48	47	48					8																	37794824		1881	4103	5984	SO:0001583	missense	137362				biosynthetic process|cellular amino acid metabolic process	cytoplasm	pyridoxal phosphate binding|transaminase activity	g.chr8:37794824C>T	BC029504	CCDS47839.1	8p12	2005-09-22			ENSG00000169154	ENSG00000169154			28487	protein-coding gene	gene with protein product						12477932	Standard	NM_152413		Approved	MGC33309	uc011lbj.1	Q8NHS2	OTTHUMG00000164027	ENST00000307599.4:c.490G>A	8.37:g.37794824C>T	ENSP00000303077:p.Asp164Asn						p.D164N	NM_152413.2	NP_689626.2	Q8NHS2	AATC2_HUMAN	LUSC - Lung squamous cell carcinoma(8;1.37e-11)		4	589	-	Colorectal(12;0.00627)	Lung NSC(58;0.118)|all_lung(54;0.195)	164					A8MWL4	Missense_Mutation	SNP	ENST00000307599.4	37	c.490G>A	CCDS47839.1	.	.	.	.	.	.	.	.	.	.	C	18.14	3.557785	0.65425	.	.	ENSG00000169154	ENST00000307599	D	0.94417	-3.42	5.04	3.15	0.36227	Aminotransferase, class I/classII (1);Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.497073	0.20173	N	0.097690	D	0.91958	0.7453	L	0.53780	1.695	0.09310	N	0.999992	B	0.32526	0.374	B	0.38655	0.278	D	0.84390	0.0554	10	0.42905	T	0.14	-8.9892	6.9706	0.24646	0.0:0.7723:0.0:0.2277	.	164	Q8NHS2	AATC2_HUMAN	N	164	ENSP00000303077:D164N	ENSP00000303077:D164N	D	-	1	0	GOT1L1	37913981	0.102000	0.21896	0.042000	0.18584	0.411000	0.31082	1.496000	0.35638	0.476000	0.27440	0.549000	0.68633	GAC		0.547	GOT1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376823.1	NM_152413		4	11	0	0	0	1	0	4	11					T	37794824	C	T	37794824	3	4	435	1	0	0	0	0	1	0	0	0	6580	855	30	3	644	3	GOT1L1	8	37794824	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	90186	37794824	108569198	4009	24934											
TACC1	6867	broad.mit.edu	37	chr8	38677710	38677710	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggggaggagtcgaggagctcAcctctcaagcttgagtttga	9	9	15	8	1	2	2	2	2	1	0	4	6	2	5	1	4	2	3	1	4	1	2	rs539291470		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:38677710A>G	ENST00000317827.4	+	3	1327	c.948A>G	c.(946-948)tcA>tcG	p.S316S	TACC1_ENST00000443286.2_Silent_p.S332S|TACC1_ENST00000522752.1_Intron|TACC1_ENST00000519416.1_Silent_p.S121S|TACC1_ENST00000330691.6_Intron|TACC1_ENST00000520611.1_5'Flank|TACC1_ENST00000520973.1_Silent_p.S121S|TACC1_ENST00000520615.1_Silent_p.S121S|TACC1_ENST00000379931.3_Silent_p.S316S|TACC1_ENST00000520340.1_Silent_p.S280S|TACC1_ENST00000276520.8_Intron|TACC1_ENST00000518415.1_Silent_p.S271S|TACC1_ENST00000348567.4_Intron	NM_006283.2	NP_006274.2	O75410	TACC1_HUMAN	transforming, acidic coiled-coil containing protein 1	316	Interaction with YEATS4.				cell cycle (GO:0007049)|cell division (GO:0051301)|cerebral cortex development (GO:0021987)|interkinetic nuclear migration (GO:0022027)|microtubule cytoskeleton organization (GO:0000226)|neurogenesis (GO:0022008)|regulation of microtubule-based process (GO:0032886)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)				breast(4)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(3)	17		all_lung(54;0.00292)|Lung NSC(58;0.0115)|Hepatocellular(245;0.065)	LUSC - Lung squamous cell carcinoma(45;1.7e-09)|COAD - Colon adenocarcinoma(9;0.235)			CGAGGAGCTCACCTCTCAAGC	0.527																																						ENST00000379931.3																			0				breast(4)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(3)	17						c.(946-948)tcA>tcG		transforming, acidic coiled-coil containing protein 1							52	58	56					8																	38677710		2203	4300	6503	SO:0001819	synonymous_variant	6867				cell cycle|cell division	intermediate filament cytoskeleton|microtubule organizing center|nucleus	protein binding	g.chr8:38677710A>G	AF049910	CCDS6109.1, CCDS47845.1, CCDS55224.1	8p11	2012-12-20			ENSG00000147526	ENSG00000147526			11522	protein-coding gene	gene with protein product		605301					Standard	NM_006283		Approved		uc010lwp.3	O75410	OTTHUMG00000164018	ENST00000317827.4:c.948A>G	8.37:g.38677710A>G						TACC1_ENST00000518415.1_Silent_p.S271S|TACC1_ENST00000348567.4_Intron|TACC1_ENST00000520973.1_Silent_p.S121S|TACC1_ENST00000317827.4_Silent_p.S316S|TACC1_ENST00000443286.2_Silent_p.S332S|TACC1_ENST00000522752.1_Intron|TACC1_ENST00000330691.6_Intron|TACC1_ENST00000520615.1_Silent_p.S121S|TACC1_ENST00000520340.1_Silent_p.S280S|TACC1_ENST00000276520.8_Intron|TACC1_ENST00000519416.1_Silent_p.S121S	p.S316S			O75410	TACC1_HUMAN	LUSC - Lung squamous cell carcinoma(45;1.7e-09)|COAD - Colon adenocarcinoma(9;0.235)		3	1327	+		all_lung(54;0.00292)|Lung NSC(58;0.0115)|Hepatocellular(245;0.065)	316			Interaction with YEATS4.		B2RBD9|D3DSX6|Q6Y687|Q86YG7|Q8IUJ2|Q8IUJ3|Q8IUJ4|Q8IZG2|Q8NEY7|Q9UPP9	Silent	SNP	ENST00000317827.4	37	c.948A>G	CCDS6109.1	.	.	.	.	.	.	.	.	.	.	A	2.700	-0.271263	0.05716	.	.	ENSG00000147526	ENST00000521866	.	.	.	5.41	-0.173	0.13322	.	.	.	.	.	T	0.40094	0.1103	.	.	.	0.58432	D	0.999992	.	.	.	.	.	.	T	0.23833	-1.0177	4	.	.	.	0.3869	1.0172	0.01510	0.3227:0.3284:0.2019:0.147	.	.	.	.	R	91	.	.	H	+	2	0	TACC1	38796867	0.000000	0.05858	0.442000	0.26870	0.134000	0.20937	0.279000	0.18771	0.032000	0.15435	0.460000	0.39030	CAC		0.527	TACC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000376768.1	NM_006283		14	17	0	0	0	1	0	14	17					G	38677710	A	G	38677710	2	3	435	1	0	0	0	0	0	0	0	1	15498	146	6	4		4	TACC1	8	38677710	Silent	SNP	A	TCGA-XK-AAIW-01A-11D-A41K-08	882886	38677710	107686312	4010	24935											
ADAM9	8754	broad.mit.edu	37	chr8	38874762	38874762	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttgctgcatttagagaatgcGagttatgggattgaacccct	10	13	11	7	1	0	2	0	1	0	1	0	5	0	3	2	1	4	3	2	1	4	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:38874762G>A	ENST00000487273.2	+	6	513	c.435G>A	c.(433-435)gcG>gcA	p.A145A	SNORD38_ENST00000384470.1_RNA	NM_003816.2	NP_003807.1	Q13443	ADAM9_HUMAN	ADAM metallopeptidase domain 9	145					activation of MAPKK activity (GO:0000186)|cell adhesion (GO:0007155)|cell adhesion mediated by integrin (GO:0033627)|cell-cell adhesion mediated by integrin (GO:0033631)|cell-matrix adhesion (GO:0007160)|cellular response to lipopolysaccharide (GO:0071222)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|keratinocyte differentiation (GO:0030216)|membrane protein ectodomain proteolysis (GO:0006509)|monocyte activation (GO:0042117)|PMA-inducible membrane protein ectodomain proteolysis (GO:0051088)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of keratinocyte migration (GO:0051549)|positive regulation of macrophage fusion (GO:0034241)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|positive regulation of protein secretion (GO:0050714)|response to calcium ion (GO:0051592)|response to glucocorticoid (GO:0051384)|response to hydrogen peroxide (GO:0042542)|response to laminar fluid shear stress (GO:0034616)|response to manganese ion (GO:0010042)|response to tumor necrosis factor (GO:0034612)|transforming growth factor beta receptor signaling pathway (GO:0007179)	basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intrinsic component of external side of plasma membrane (GO:0031233)	collagen binding (GO:0005518)|integrin binding (GO:0005178)|laminin binding (GO:0043236)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|protein kinase C binding (GO:0005080)|SH3 domain binding (GO:0017124)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		all_lung(54;0.00292)|Lung NSC(58;0.0115)|Hepatocellular(245;0.0153)	LUSC - Lung squamous cell carcinoma(45;2.74e-07)			TAGAGAATGCGAGTTATGGGA	0.373																																						ENST00000487273.2																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						c.(433-435)gcG>gcA		ADAM metallopeptidase domain 9							102	91	95					8																	38874762		2203	4300	6503	SO:0001819	synonymous_variant	8754				activation of MAPKK activity|cell-cell adhesion mediated by integrin|cell-matrix adhesion|keratinocyte differentiation|monocyte activation|PMA-inducible membrane protein ectodomain proteolysis|positive regulation of cell adhesion mediated by integrin|positive regulation of keratinocyte migration|positive regulation of macrophage fusion|positive regulation of membrane protein ectodomain proteolysis|positive regulation of protein secretion|response to calcium ion|response to glucocorticoid stimulus|response to hydrogen peroxide|response to manganese ion|response to tumor necrosis factor|transforming growth factor beta receptor signaling pathway	extracellular space|integral to membrane|intrinsic to external side of plasma membrane	collagen binding|integrin binding|laminin binding|metalloendopeptidase activity|protein kinase C binding|SH3 domain binding|zinc ion binding	g.chr8:38874762G>A	U41766	CCDS6112.1	8p11.23	2011-03-18	2010-06-24		ENSG00000168615	ENSG00000168615		"ADAM metallopeptidase domain containing"	216	protein-coding gene	gene with protein product	"meltrin gamma"	602713	"a disintegrin and metalloproteinase domain 9 (meltrin gamma)", "cone rod dystrophy 9"	CORD9		8647900, 11581183, 19409519	Standard	NR_027638		Approved	MDC9, KIAA0021, MCMP, Mltng	uc003xmr.3	Q13443	OTTHUMG00000159783	ENST00000487273.2:c.435G>A	8.37:g.38874762G>A							p.A145A	NM_003816.2	NP_003807.1	Q13443	ADAM9_HUMAN	LUSC - Lung squamous cell carcinoma(45;2.74e-07)		6	513	+		all_lung(54;0.00292)|Lung NSC(58;0.0115)|Hepatocellular(245;0.0153)	145					B7ZLN7|Q10718|Q8NFM6	Silent	SNP	ENST00000487273.2	37	c.435G>A	CCDS6112.1																																																																																				0.373	ADAM9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357291.2			5	62	0	0	0	1	0	5	62					A	38874762	G	A	38874762	2	1	435	1	0	0	0	0	0	0	0	1	253	1045	37	2		2	ADAM9	8	38874762	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	197052	38874762	107489260	4011	24936											
ADAM18	8749	broad.mit.edu	37	chr8	39525700	39525700	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctactgataaccagtgtgccAagatatttggaaaaggtatt	14	12	9	6	0	0	2	0	1	0	1	0	3	0	3	2	2	3	1	2	2	7	6			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:39525700A>G	ENST00000265707.5	+	14	1555	c.1510A>G	c.(1510-1512)Aag>Gag	p.K504E	ADAM18_ENST00000541111.1_5'UTR|ADAM18_ENST00000379866.1_Missense_Mutation_p.K480E	NM_014237.2	NP_055052.1	Q9Y3Q7	ADA18_HUMAN	ADAM metallopeptidase domain 18	504	Cys-rich.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(31)|ovary(1)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)	71		all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112)	LUSC - Lung squamous cell carcinoma(45;0.000199)			CCAGTGTGCCAAGATATTTGG	0.383																																						ENST00000265707.5																			0				NS(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(31)|ovary(1)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)	71						c.(1510-1512)Aag>Gag		ADAM metallopeptidase domain 18							186	161	169					8																	39525700		2203	4300	6503	SO:0001583	missense	8749				cell differentiation|multicellular organismal development|proteolysis|spermatogenesis	integral to membrane|membrane fraction	metalloendopeptidase activity|zinc ion binding	g.chr8:39525700A>G	AJ133004	CCDS6113.1, CCDS55225.1	8p11.22	2008-08-07	2005-08-18		ENSG00000168619	ENSG00000168619		"ADAM metallopeptidase domain containing"	196	protein-coding gene	gene with protein product			"a disintegrin and metalloproteinase domain 18"			12200459	Standard	NM_014237		Approved	tMDCIII, ADAM27	uc003xni.3	Q9Y3Q7	OTTHUMG00000164040	ENST00000265707.5:c.1510A>G	8.37:g.39525700A>G	ENSP00000265707:p.Lys504Glu					ADAM18_ENST00000379866.1_Missense_Mutation_p.K480E|ADAM18_ENST00000541111.1_5'UTR	p.K504E	NM_014237.2	NP_055052.1	Q9Y3Q7	ADA18_HUMAN	LUSC - Lung squamous cell carcinoma(45;0.000199)		14	1555	+		all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112)	504			Cys-rich.		B2R9Y0|Q0VAI4|Q6IRW9|Q6UXJ9	Missense_Mutation	SNP	ENST00000265707.5	37	c.1510A>G	CCDS6113.1	.	.	.	.	.	.	.	.	.	.	A	0.511	-0.866299	0.02590	.	.	ENSG00000168619	ENST00000265707;ENST00000379866;ENST00000522198	T;T	0.21031	2.03;2.03	5.5	-1.11	0.09840	ADAM, cysteine-rich (2);	1.198870	0.05948	N	0.638239	T	0.06645	0.0170	N	0.04148	-0.265	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.11329	0.003;0.006	T	0.30765	-0.9967	10	0.02654	T	1	.	1.0368	0.01550	0.426:0.1817:0.2548:0.1375	.	480;504	Q9Y3Q7-2;Q9Y3Q7	.;ADA18_HUMAN	E	504;480;436	ENSP00000265707:K504E;ENSP00000369195:K480E	ENSP00000265707:K504E	K	+	1	0	ADAM18	39644857	0.000000	0.05858	0.019000	0.16419	0.890000	0.51754	-1.262000	0.02852	-0.077000	0.12752	0.454000	0.30748	AAG		0.383	ADAM18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376916.1	NM_014237		44	79	0	0	0	1	0	44	79					G	39525700	A	G	39525700	3	3	435	1	0	0	0	0	1	0	0	0	239	131	5	4	1564	4	ADAM18	8	39525700	Missense_Mutation	SNP	A	TCGA-XK-AAIW-01A-11D-A41K-08	650938	39525700	106838322	4012	24937											
ANK1	286	broad.mit.edu	37	chr8	41548012	41548012	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctttacaggcatggccagacGgttctcccgaaatgactgga	10	9	11	11	2	1	2	0	1	1	1	2	4	1	3	2	4	1	2	2	4	2	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:41548012G>A	ENST00000347528.4	-	32	4047	c.3964C>T	c.(3964-3966)Cgt>Tgt	p.R1322C	ANK1_ENST00000396945.1_Missense_Mutation_p.R1322C|ANK1_ENST00000379758.2_Missense_Mutation_p.R1322C|ANK1_ENST00000265709.8_Missense_Mutation_p.R1363C|ANK1_ENST00000289734.7_Missense_Mutation_p.R1322C|ANK1_ENST00000352337.4_Missense_Mutation_p.R1322C|ANK1_ENST00000396942.1_Missense_Mutation_p.R1322C	NM_020475.2|NM_020476.2|NM_020477.2	NP_065208.2|NP_065209.2|NP_065210.2	P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	1322	UPA domain. {ECO:0000250}.				axon guidance (GO:0007411)|cytoskeleton organization (GO:0007010)|ER to Golgi vesicle-mediated transport (GO:0006888)|erythrocyte development (GO:0048821)|exocytosis (GO:0006887)|maintenance of epithelial cell apical/basal polarity (GO:0045199)|monovalent inorganic cation transport (GO:0015672)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of organelle organization (GO:0010638)|protein targeting to plasma membrane (GO:0072661)|signal transduction (GO:0007165)	axolemma (GO:0030673)|basolateral plasma membrane (GO:0016323)|cortical cytoskeleton (GO:0030863)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|M band (GO:0031430)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|cytoskeletal adaptor activity (GO:0008093)|enzyme binding (GO:0019899)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			ATGGCCAGACGGTTCTCCCGA	0.567																																						ENST00000396942.1																			0				breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122						c.(3964-3966)Cgt>Tgt		ankyrin 1, erythrocytic							59	62	61					8																	41548012		2203	4300	6503	SO:0001583	missense	286				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton	g.chr8:41548012G>A	M28880	CCDS6119.1, CCDS6121.1, CCDS6122.1, CCDS47849.1, CCDS55227.1	8p11.21	2013-01-10			ENSG00000029534	ENSG00000029534		"Ankyrin repeat domain containing"	492	protein-coding gene	gene with protein product		612641		ANK		1689849	Standard	NM_001142445		Approved	SPH1	uc003xom.3	P16157	OTTHUMG00000150281	ENST00000347528.4:c.3964C>T	8.37:g.41548012G>A	ENSP00000339620:p.Arg1322Cys					ANK1_ENST00000347528.4_Missense_Mutation_p.R1322C|ANK1_ENST00000289734.7_Missense_Mutation_p.R1322C|ANK1_ENST00000265709.8_Missense_Mutation_p.R1363C|ANK1_ENST00000396945.1_Missense_Mutation_p.R1322C|ANK1_ENST00000352337.4_Missense_Mutation_p.R1322C|ANK1_ENST00000379758.2_Missense_Mutation_p.R1322C	p.R1322C			P16157	ANK1_HUMAN	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)		32	4047	-	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	1322					A0PJN8|A6NJ23|E5RFL7|O43400|Q13768|Q53ER1|Q59FP2|Q8N604|Q99407	Missense_Mutation	SNP	ENST00000347528.4	37	c.3964C>T	CCDS6119.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.53|15.53	2.860508|2.860508	0.51482|0.51482	.|.	.|.	ENSG00000029534|ENSG00000029534	ENST00000520299|ENST00000347528;ENST00000289734;ENST00000379758;ENST00000396945;ENST00000396942;ENST00000352337;ENST00000265709;ENST00000358820	.|T;T;T;T;T;T;T	.|0.28895	.|1.59;1.59;1.59;1.59;1.59;1.59;1.59	5.08|5.08	4.21|4.21	0.49690|0.49690	.|.	.|0.060371	.|0.64402	.|D	.|0.000005	T|T	0.44726|0.44726	0.1307|0.1307	M|M	0.86028|0.86028	2.79|2.79	0.80722|0.80722	D|D	1|1	.|B;B;P;D;B;D	.|0.69078	.|0.057;0.268;0.576;0.992;0.033;0.997	.|B;B;B;P;B;P	.|0.50314	.|0.046;0.023;0.12;0.538;0.046;0.637	T|T	0.51702|0.51702	-0.8672|-0.8672	5|10	.|0.87932	.|D	.|0	.|.	8.1189|8.1189	0.30959|0.30959	0.08:0.0:0.765:0.155|0.08:0.0:0.765:0.155	.|.	.|1363;1322;1322;1322;1322;638	.|P16157-21;P16157-4;P16157;P16157-5;P16157-3;B3KX39	.|.;.;ANK1_HUMAN;.;.;.	L|C	643|1322;1322;1322;1322;1322;1322;1363;1322	.|ENSP00000339620:R1322C;ENSP00000289734:R1322C;ENSP00000369082:R1322C;ENSP00000380149:R1322C;ENSP00000380147:R1322C;ENSP00000309131:R1322C;ENSP00000265709:R1363C	.|ENSP00000265709:R1363C	P|R	-|-	2|1	0|0	ANK1|ANK1	41667169|41667169	1.000000|1.000000	0.71417|0.71417	0.996000|0.996000	0.52242|0.52242	0.991000|0.991000	0.79684|0.79684	1.726000|1.726000	0.38085|0.38085	1.358000|1.358000	0.45922|0.45922	0.563000|0.563000	0.77884|0.77884	CCG|CGT		0.567	ANK1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317297.1	NM_020475		4	33	0	0	0	1	0	4	33					A	41548012	G	A	41548012	3	1	435	1	0	0	0	0	1	0	0	0	620	1116	39	2	2051	2	ANK1	8	41548012	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	2022312	41548012	104816010	4013	24938											
ANK1	286	broad.mit.edu	37	chr8	41566427	41566427	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtttgctgagcccccatactGcagcagactacgggccacct	8	8	10	15	1	0	2	0	1	0	1	0	2	0	2	4	1	6	4	4	1	2	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:41566427G>A	ENST00000347528.4	-	17	1950	c.1867C>T	c.(1867-1869)Cag>Tag	p.Q623*	ANK1_ENST00000396945.1_Nonsense_Mutation_p.Q623*|ANK1_ENST00000379758.2_Nonsense_Mutation_p.Q623*|ANK1_ENST00000265709.8_Nonsense_Mutation_p.Q656*|ANK1_ENST00000289734.7_Nonsense_Mutation_p.Q623*|ANK1_ENST00000352337.4_Nonsense_Mutation_p.Q623*|ANK1_ENST00000396942.1_Nonsense_Mutation_p.Q623*	NM_020475.2|NM_020476.2|NM_020477.2	NP_065208.2|NP_065209.2|NP_065210.2	P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	623	89 kDa domain.				axon guidance (GO:0007411)|cytoskeleton organization (GO:0007010)|ER to Golgi vesicle-mediated transport (GO:0006888)|erythrocyte development (GO:0048821)|exocytosis (GO:0006887)|maintenance of epithelial cell apical/basal polarity (GO:0045199)|monovalent inorganic cation transport (GO:0015672)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of organelle organization (GO:0010638)|protein targeting to plasma membrane (GO:0072661)|signal transduction (GO:0007165)	axolemma (GO:0030673)|basolateral plasma membrane (GO:0016323)|cortical cytoskeleton (GO:0030863)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|M band (GO:0031430)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|cytoskeletal adaptor activity (GO:0008093)|enzyme binding (GO:0019899)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			CCCCCATACTGCAGCAGACTA	0.622																																						ENST00000396942.1																			0				breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122						c.(1867-1869)Cag>Tag		ankyrin 1, erythrocytic							93	82	86					8																	41566427		2203	4300	6503	SO:0001587	stop_gained	286				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton	g.chr8:41566427G>A	M28880	CCDS6119.1, CCDS6121.1, CCDS6122.1, CCDS47849.1, CCDS55227.1	8p11.21	2013-01-10			ENSG00000029534	ENSG00000029534		"Ankyrin repeat domain containing"	492	protein-coding gene	gene with protein product		612641		ANK		1689849	Standard	NM_001142445		Approved	SPH1	uc003xom.3	P16157	OTTHUMG00000150281	ENST00000347528.4:c.1867C>T	8.37:g.41566427G>A	ENSP00000339620:p.Gln623*					ANK1_ENST00000347528.4_Nonsense_Mutation_p.Q623*|ANK1_ENST00000289734.7_Nonsense_Mutation_p.Q623*|ANK1_ENST00000265709.8_Nonsense_Mutation_p.Q656*|ANK1_ENST00000396945.1_Nonsense_Mutation_p.Q623*|ANK1_ENST00000352337.4_Nonsense_Mutation_p.Q623*|ANK1_ENST00000379758.2_Nonsense_Mutation_p.Q623*	p.Q623*			P16157	ANK1_HUMAN	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)		17	1950	-	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	623			89 kDa domain.		A0PJN8|A6NJ23|E5RFL7|O43400|Q13768|Q53ER1|Q59FP2|Q8N604|Q99407	Nonsense_Mutation	SNP	ENST00000347528.4	37	c.1867C>T	CCDS6119.1	.	.	.	.	.	.	.	.	.	.	G	40	8.386650	0.98789	.	.	ENSG00000029534	ENST00000347528;ENST00000289734;ENST00000379758;ENST00000396945;ENST00000396942;ENST00000352337;ENST00000265709;ENST00000358820	.	.	.	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.39692	T	0.17	.	19.4035	0.94640	0.0:0.0:1.0:0.0	.	.	.	.	X	623;623;623;623;623;623;656;623	.	ENSP00000265709:Q656X	Q	-	1	0	ANK1	41685584	1.000000	0.71417	1.000000	0.80357	0.451000	0.32288	5.633000	0.67825	2.586000	0.87340	0.561000	0.74099	CAG		0.622	ANK1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317297.1	NM_020475		4	74	0	0	0	1	0	4	74					A	41566427	G	A	41566427	4	1	435	1	0	0	0	0	0	1	0	0	620	1328	46	3	4236	3	ANK1	8	41566427	Nonsense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	18415	41566427	104797595	4014	24939											
ANK1	286	broad.mit.edu	37	chr8	41580698	41580698	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaggatctctgagattcgcAcgtgcccatttcgagctgca	8	10	11	12	3	1	1	0	1	1	1	4	4	1	2	1	1	3	4	1	1	0	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:41580698A>G	ENST00000347528.4	-	9	937	c.854T>C	c.(853-855)gTg>gCg	p.V285A	ANK1_ENST00000396945.1_Missense_Mutation_p.V285A|ANK1_ENST00000379758.2_Missense_Mutation_p.V285A|ANK1_ENST00000265709.8_Missense_Mutation_p.V318A|ANK1_ENST00000289734.7_Missense_Mutation_p.V285A|ANK1_ENST00000352337.4_Missense_Mutation_p.V285A|ANK1_ENST00000396942.1_Missense_Mutation_p.V285A	NM_020475.2|NM_020476.2|NM_020477.2	NP_065208.2|NP_065209.2|NP_065210.2	P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	285	89 kDa domain.				axon guidance (GO:0007411)|cytoskeleton organization (GO:0007010)|ER to Golgi vesicle-mediated transport (GO:0006888)|erythrocyte development (GO:0048821)|exocytosis (GO:0006887)|maintenance of epithelial cell apical/basal polarity (GO:0045199)|monovalent inorganic cation transport (GO:0015672)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of organelle organization (GO:0010638)|protein targeting to plasma membrane (GO:0072661)|signal transduction (GO:0007165)	axolemma (GO:0030673)|basolateral plasma membrane (GO:0016323)|cortical cytoskeleton (GO:0030863)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|M band (GO:0031430)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|cytoskeletal adaptor activity (GO:0008093)|enzyme binding (GO:0019899)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			TGAGATTCGCACGTGCCCATT	0.507																																						ENST00000396942.1																			0				breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122						c.(853-855)gTg>gCg		ankyrin 1, erythrocytic							162	140	147					8																	41580698		2203	4300	6503	SO:0001583	missense	286				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton	g.chr8:41580698A>G	M28880	CCDS6119.1, CCDS6121.1, CCDS6122.1, CCDS47849.1, CCDS55227.1	8p11.21	2013-01-10			ENSG00000029534	ENSG00000029534		"Ankyrin repeat domain containing"	492	protein-coding gene	gene with protein product		612641		ANK		1689849	Standard	NM_001142445		Approved	SPH1	uc003xom.3	P16157	OTTHUMG00000150281	ENST00000347528.4:c.854T>C	8.37:g.41580698A>G	ENSP00000339620:p.Val285Ala					ANK1_ENST00000347528.4_Missense_Mutation_p.V285A|ANK1_ENST00000289734.7_Missense_Mutation_p.V285A|ANK1_ENST00000265709.8_Missense_Mutation_p.V318A|ANK1_ENST00000396945.1_Missense_Mutation_p.V285A|ANK1_ENST00000352337.4_Missense_Mutation_p.V285A|ANK1_ENST00000379758.2_Missense_Mutation_p.V285A	p.V285A			P16157	ANK1_HUMAN	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)		9	937	-	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	285			89 kDa domain.		A0PJN8|A6NJ23|E5RFL7|O43400|Q13768|Q53ER1|Q59FP2|Q8N604|Q99407	Missense_Mutation	SNP	ENST00000347528.4	37	c.854T>C	CCDS6119.1	.	.	.	.	.	.	.	.	.	.	A	11.00	1.509770	0.27036	.	.	ENSG00000029534	ENST00000347528;ENST00000289734;ENST00000379758;ENST00000396945;ENST00000396942;ENST00000352337;ENST00000265709;ENST00000358820	T;T;T;T;T;T;T	0.63096	-0.02;-0.02;-0.02;-0.02;-0.02;-0.02;-0.02	5.41	5.41	0.78517	Ankyrin repeat-containing domain (3);	0.191536	0.44483	D	0.000449	T	0.44953	0.1318	N	0.12746	0.255	0.54753	D	0.999984	B;B;B;B;B	0.21309	0.015;0.016;0.054;0.043;0.015	B;B;B;B;B	0.27170	0.077;0.06;0.046;0.027;0.077	T	0.37572	-0.9700	10	0.12430	T	0.62	.	15.4341	0.75129	1.0:0.0:0.0:0.0	.	318;285;285;285;285	P16157-21;P16157-4;P16157;P16157-5;P16157-3	.;.;ANK1_HUMAN;.;.	A	285;285;285;285;285;285;318;285	ENSP00000339620:V285A;ENSP00000289734:V285A;ENSP00000369082:V285A;ENSP00000380149:V285A;ENSP00000380147:V285A;ENSP00000309131:V285A;ENSP00000265709:V318A	ENSP00000265709:V318A	V	-	2	0	ANK1	41699855	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.143000	0.64826	2.051000	0.60960	0.533000	0.62120	GTG		0.507	ANK1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317297.1	NM_020475		31	48	0	0	0	1	0	31	48					G	41580698	A	G	41580698	3	3	435	1	0	0	0	0	1	0	0	0	620	159	6	4	5281	4	ANK1	8	41580698	Missense_Mutation	SNP	A	TCGA-XK-AAIW-01A-11D-A41K-08	14271	41580698	104783324	4015	24940											
ANK1	286	broad.mit.edu	37	chr8	41583417	41583417	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttgatgaggtgcgcgacgacGttctcatggccctgctgcag	6	10	14	11	4	1	2	1	2	1	0	2	4	1	2	1	2	3	3	1	2	0	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:41583417G>A	ENST00000347528.4	-	6	557	c.474C>T	c.(472-474)aaC>aaT	p.N158N	ANK1_ENST00000396945.1_Silent_p.N158N|ANK1_ENST00000379758.2_Silent_p.N158N|ANK1_ENST00000265709.8_Silent_p.N191N|ANK1_ENST00000289734.7_Silent_p.N158N|ANK1_ENST00000352337.4_Silent_p.N158N|ANK1_ENST00000396942.1_Silent_p.N158N	NM_020475.2|NM_020476.2|NM_020477.2	NP_065208.2|NP_065209.2|NP_065210.2	P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	158	89 kDa domain.				axon guidance (GO:0007411)|cytoskeleton organization (GO:0007010)|ER to Golgi vesicle-mediated transport (GO:0006888)|erythrocyte development (GO:0048821)|exocytosis (GO:0006887)|maintenance of epithelial cell apical/basal polarity (GO:0045199)|monovalent inorganic cation transport (GO:0015672)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of organelle organization (GO:0010638)|protein targeting to plasma membrane (GO:0072661)|signal transduction (GO:0007165)	axolemma (GO:0030673)|basolateral plasma membrane (GO:0016323)|cortical cytoskeleton (GO:0030863)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|M band (GO:0031430)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|cytoskeletal adaptor activity (GO:0008093)|enzyme binding (GO:0019899)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			GCGCGACGACGTTCTCATGGC	0.672																																						ENST00000396942.1																			0				breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122						c.(472-474)aaC>aaT		ankyrin 1, erythrocytic							87	58	67					8																	41583417		2203	4300	6503	SO:0001819	synonymous_variant	286				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton	g.chr8:41583417G>A	M28880	CCDS6119.1, CCDS6121.1, CCDS6122.1, CCDS47849.1, CCDS55227.1	8p11.21	2013-01-10			ENSG00000029534	ENSG00000029534		"Ankyrin repeat domain containing"	492	protein-coding gene	gene with protein product		612641		ANK		1689849	Standard	NM_001142445		Approved	SPH1	uc003xom.3	P16157	OTTHUMG00000150281	ENST00000347528.4:c.474C>T	8.37:g.41583417G>A						ANK1_ENST00000347528.4_Silent_p.N158N|ANK1_ENST00000289734.7_Silent_p.N158N|ANK1_ENST00000265709.8_Silent_p.N191N|ANK1_ENST00000396945.1_Silent_p.N158N|ANK1_ENST00000352337.4_Silent_p.N158N|ANK1_ENST00000379758.2_Silent_p.N158N	p.N158N			P16157	ANK1_HUMAN	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)		6	557	-	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	158			89 kDa domain.		A0PJN8|A6NJ23|E5RFL7|O43400|Q13768|Q53ER1|Q59FP2|Q8N604|Q99407	Silent	SNP	ENST00000347528.4	37	c.474C>T	CCDS6119.1																																																																																				0.672	ANK1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317297.1	NM_020475		8	20	0	0	0	1	0	8	20					A	41583417	G	A	41583417	2	1	435	1	0	0	0	0	0	0	0	1	620	1136	40	1		1	ANK1	8	41583417	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	2719	41583417	104780605	4016	24941											
MYST3	7994	broad.mit.edu	37	chr8	41790016	41790016	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catggaattgacattataggCgggagtaggcatcagattaa	14	10	12	5	1	1	2	1	1	0	1	1	4	1	4	0	4	0	2	0	4	5	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:41790016C>T	ENST00000396930.3	-	18	6265	c.5722G>A	c.(5722-5724)Gcc>Acc	p.A1908T	KAT6A_ENST00000406337.1_Missense_Mutation_p.A1908T|KAT6A_ENST00000265713.2_Missense_Mutation_p.A1908T	NM_001099412.1	NP_001092882.1	Q92794	KAT6A_HUMAN	K(lysine) acetyltransferase 6A	1908	Met-rich.				aorta morphogenesis (GO:0035909)|cellular senescence (GO:0090398)|chromatin organization (GO:0006325)|DNA packaging (GO:0006323)|embryonic hemopoiesis (GO:0035162)|face morphogenesis (GO:0060325)|heart morphogenesis (GO:0003007)|histone acetylation (GO:0016573)|histone H3 acetylation (GO:0043966)|myeloid cell differentiation (GO:0030099)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive regulation of transcription, DNA-templated (GO:0045893)|protein acetylation (GO:0006473)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	Golgi apparatus (GO:0005794)|MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|PML body (GO:0016605)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.A1908T(1)									ACATTATAGGCGGGAGTAGGC	0.517																																						ENST00000396930.3																			1	Substitution - Missense(1)	p.A1908T(1)	large_intestine(1)								c.(5722-5724)Gcc>Acc		K(lysine) acetyltransferase 6A							130	114	119					8																	41790016		2203	4300	6503	SO:0001583	missense	7994				histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding	g.chr8:41790016C>T	U47742	CCDS6124.1	8p11	2013-01-28	2011-07-21	2011-07-21	ENSG00000083168	ENSG00000083168		"Chromatin-modifying enzymes / K-acetyltransferases", "Zinc fingers, C2HC-type containing", "Zinc fingers, PHD-type"	13013	protein-coding gene	gene with protein product	"Monocytic leukemia zinc finger protein"	601408	"runt-related transcription factor binding protein 2", "MYST histone acetyltransferase (monocytic leukemia) 3"	ZNF220, RUNXBP2, MYST3		8849440, 8782817	Standard	NM_001099412		Approved	MOZ, ZC2HC6A	uc003xon.4	Q92794	OTTHUMG00000150453	ENST00000396930.3:c.5722G>A	8.37:g.41790016C>T	ENSP00000380136:p.Ala1908Thr					KAT6A_ENST00000265713.2_Missense_Mutation_p.A1908T|KAT6A_ENST00000406337.1_Missense_Mutation_p.A1908T	p.A1908T	NM_001099412.1	NP_001092882.1	Q92794	MYST3_HUMAN			18	6265	-			1908			Met-rich.		Q76L81	Missense_Mutation	SNP	ENST00000396930.3	37	c.5722G>A	CCDS6124.1	.	.	.	.	.	.	.	.	.	.	C	3.945	-0.013403	0.07727	.	.	ENSG00000083168	ENST00000265713;ENST00000406337;ENST00000396930	T;T;T	0.64803	-0.12;-0.12;-0.12	5.93	1.74	0.24563	.	0.225165	0.39083	N	0.001477	T	0.45617	0.1351	L	0.32530	0.975	0.41402	D	0.987686	B	0.09022	0.002	B	0.04013	0.001	T	0.25882	-1.0119	10	0.38643	T	0.18	-9.0206	7.5103	0.27569	0.0:0.5391:0.2467:0.2142	.	1908	Q92794	KAT6A_HUMAN	T	1908	ENSP00000265713:A1908T;ENSP00000385888:A1908T;ENSP00000380136:A1908T	ENSP00000265713:A1908T	A	-	1	0	KAT6A	41909173	0.434000	0.25570	0.396000	0.26296	0.591000	0.36615	0.782000	0.26788	0.335000	0.23614	-0.710000	0.03640	GCC		0.517	KAT6A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318163.1	NM_006766		20	29	0	0	0	1	0	20	29					T	41790016	C	T	41790016	3	4	435	1	0	0	0	0	1	0	0	0	10104	768	27	1	296	1	MYST3	8	41790016	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	206599	41790016	104574006	4017	24942											
MYST3	7994	broad.mit.edu	37	chr8	41795087	41795087	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttcggtggagaaatggtttCtgtttaatagagaaagcaag	13	12	12	4	1	1	2	0	0	1	2	2	4	1	2	0	3	1	3	0	3	5	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:41795087C>A	ENST00000396930.3	-	17	3583		c.e17-1		KAT6A_ENST00000406337.1_Splice_Site|KAT6A_ENST00000265713.2_Splice_Site	NM_001099412.1	NP_001092882.1	Q92794	KAT6A_HUMAN	K(lysine) acetyltransferase 6A						aorta morphogenesis (GO:0035909)|cellular senescence (GO:0090398)|chromatin organization (GO:0006325)|DNA packaging (GO:0006323)|embryonic hemopoiesis (GO:0035162)|face morphogenesis (GO:0060325)|heart morphogenesis (GO:0003007)|histone acetylation (GO:0016573)|histone H3 acetylation (GO:0043966)|myeloid cell differentiation (GO:0030099)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive regulation of transcription, DNA-templated (GO:0045893)|protein acetylation (GO:0006473)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	Golgi apparatus (GO:0005794)|MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|PML body (GO:0016605)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)										GAAATGGTTTCTGTTTAATAG	0.343																																						ENST00000396930.3																			0											c.e17-1		K(lysine) acetyltransferase 6A							68	60	63					8																	41795087		2203	4300	6503	SO:0001630	splice_region_variant	7994				histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding	g.chr8:41795087C>A	U47742	CCDS6124.1	8p11	2013-01-28	2011-07-21	2011-07-21	ENSG00000083168	ENSG00000083168		"Chromatin-modifying enzymes / K-acetyltransferases", "Zinc fingers, C2HC-type containing", "Zinc fingers, PHD-type"	13013	protein-coding gene	gene with protein product	"Monocytic leukemia zinc finger protein"	601408	"runt-related transcription factor binding protein 2", "MYST histone acetyltransferase (monocytic leukemia) 3"	ZNF220, RUNXBP2, MYST3		8849440, 8782817	Standard	NM_001099412		Approved	MOZ, ZC2HC6A	uc003xon.4	Q92794	OTTHUMG00000150453	ENST00000396930.3:c.3040-1G>T	8.37:g.41795087C>A						KAT6A_ENST00000265713.2_Splice_Site|KAT6A_ENST00000406337.1_Splice_Site		NM_001099412.1	NP_001092882.1	Q92794	MYST3_HUMAN			17	3583	-								Q76L81	Splice_Site	SNP	ENST00000396930.3	37		CCDS6124.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.972761	0.74246	.	.	ENSG00000083168	ENST00000265713;ENST00000406337;ENST00000396930;ENST00000418721	.	.	.	5.82	5.82	0.92795	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.0989	0.97860	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	KAT6A	41914244	1.000000	0.71417	1.000000	0.80357	0.934000	0.57294	4.876000	0.63079	2.764000	0.94973	0.650000	0.86243	.		0.343	KAT6A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318163.1	NM_006766	Intron	17	29	1	0	3.51602e-12	1	3.7986e-12	17	29					A	41795087	C	A	41795087	5	1	435	1	0	0	0	0	0	0	1	0	10104	927	32	5	2983	5	MYST3	8	41795087	Splice_Site	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	5071	41795087	104568935	4018	24943											
MYST3	7994	broad.mit.edu	37	chr8	41801448	41801448	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agacgacccagatcagataaCggtttctctggagaccctgc	11	8	10	12	2	2	4	1	0	1	4	3	6	2	4	2	2	2	1	2	2	1	2	rs190790272		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:41801448C>T	ENST00000396930.3	-	14	2589	c.2046G>A	c.(2044-2046)ccG>ccA	p.P682P	KAT6A_ENST00000406337.1_Silent_p.P682P|KAT6A_ENST00000485568.1_Silent_p.P682P|KAT6A_ENST00000265713.2_Silent_p.P682P	NM_001099412.1	NP_001092882.1	Q92794	KAT6A_HUMAN	K(lysine) acetyltransferase 6A	682	Catalytic.|MYST-type HAT.|Mediates interaction with BRPF1, required for histone H3 acetyltransferase activity.				aorta morphogenesis (GO:0035909)|cellular senescence (GO:0090398)|chromatin organization (GO:0006325)|DNA packaging (GO:0006323)|embryonic hemopoiesis (GO:0035162)|face morphogenesis (GO:0060325)|heart morphogenesis (GO:0003007)|histone acetylation (GO:0016573)|histone H3 acetylation (GO:0043966)|myeloid cell differentiation (GO:0030099)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive regulation of transcription, DNA-templated (GO:0045893)|protein acetylation (GO:0006473)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	Golgi apparatus (GO:0005794)|MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|PML body (GO:0016605)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)										GATCAGATAACGGTTTCTCTG	0.393													C|||	1	0.000199681	0	0	5008	,	,		17715	0.001		0	False		,,,				2504	0					ENST00000396930.3																			0											c.(2044-2046)ccG>ccA		K(lysine) acetyltransferase 6A							123	105	111					8																	41801448		2203	4300	6503	SO:0001819	synonymous_variant	7994				histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding	g.chr8:41801448C>T	U47742	CCDS6124.1	8p11	2013-01-28	2011-07-21	2011-07-21	ENSG00000083168	ENSG00000083168		"Chromatin-modifying enzymes / K-acetyltransferases", "Zinc fingers, C2HC-type containing", "Zinc fingers, PHD-type"	13013	protein-coding gene	gene with protein product	"Monocytic leukemia zinc finger protein"	601408	"runt-related transcription factor binding protein 2", "MYST histone acetyltransferase (monocytic leukemia) 3"	ZNF220, RUNXBP2, MYST3		8849440, 8782817	Standard	NM_001099412		Approved	MOZ, ZC2HC6A	uc003xon.4	Q92794	OTTHUMG00000150453	ENST00000396930.3:c.2046G>A	8.37:g.41801448C>T						KAT6A_ENST00000265713.2_Silent_p.P682P|KAT6A_ENST00000406337.1_Silent_p.P682P|KAT6A_ENST00000485568.1_Silent_p.P682P	p.P682P	NM_001099412.1	NP_001092882.1	Q92794	MYST3_HUMAN			14	2589	-			682			Catalytic.|Mediates interaction with BRPF1, required for histone H3 acetyltransferase activity.		Q76L81	Silent	SNP	ENST00000396930.3	37	c.2046G>A	CCDS6124.1																																																																																				0.393	KAT6A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318163.1	NM_006766		35	71	0	0	0	1	0	35	71					T	41801448	C	T	41801448	2	4	435	1	0	0	0	0	0	0	0	1	10104	523	19	1		1	MYST3	8	41801448	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	6361	41801448	104562574	4019	24944											
MYST3	7994	broad.mit.edu	37	chr8	41905902	41905902	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tatgccattcttaccttatcCttttcatgtggaagaaggga	10	15	8	8	0	2	1	1	0	1	1	3	3	3	3	3	2	2	0	3	2	5	6			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:41905902C>A	ENST00000396930.3	-	3	1137	c.594G>T	c.(592-594)aaG>aaT	p.K198N	KAT6A_ENST00000406337.1_Missense_Mutation_p.K198N|KAT6A_ENST00000485568.1_Missense_Mutation_p.K198N|KAT6A_ENST00000265713.2_Missense_Mutation_p.K198N	NM_001099412.1	NP_001092882.1	Q92794	KAT6A_HUMAN	K(lysine) acetyltransferase 6A	198	Interaction with PML.				aorta morphogenesis (GO:0035909)|cellular senescence (GO:0090398)|chromatin organization (GO:0006325)|DNA packaging (GO:0006323)|embryonic hemopoiesis (GO:0035162)|face morphogenesis (GO:0060325)|heart morphogenesis (GO:0003007)|histone acetylation (GO:0016573)|histone H3 acetylation (GO:0043966)|myeloid cell differentiation (GO:0030099)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive regulation of transcription, DNA-templated (GO:0045893)|protein acetylation (GO:0006473)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	Golgi apparatus (GO:0005794)|MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|PML body (GO:0016605)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)										TTACCTTATCCTTTTCATGTG	0.398																																						ENST00000396930.3																			0											c.(592-594)aaG>aaT		K(lysine) acetyltransferase 6A							85	87	86					8																	41905902		2203	4300	6503	SO:0001583	missense	7994				histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding	g.chr8:41905902C>A	U47742	CCDS6124.1	8p11	2013-01-28	2011-07-21	2011-07-21	ENSG00000083168	ENSG00000083168		"Chromatin-modifying enzymes / K-acetyltransferases", "Zinc fingers, C2HC-type containing", "Zinc fingers, PHD-type"	13013	protein-coding gene	gene with protein product	"Monocytic leukemia zinc finger protein"	601408	"runt-related transcription factor binding protein 2", "MYST histone acetyltransferase (monocytic leukemia) 3"	ZNF220, RUNXBP2, MYST3		8849440, 8782817	Standard	NM_001099412		Approved	MOZ, ZC2HC6A	uc003xon.4	Q92794	OTTHUMG00000150453	ENST00000396930.3:c.594G>T	8.37:g.41905902C>A	ENSP00000380136:p.Lys198Asn					KAT6A_ENST00000265713.2_Missense_Mutation_p.K198N|KAT6A_ENST00000406337.1_Missense_Mutation_p.K198N|KAT6A_ENST00000485568.1_Missense_Mutation_p.K198N	p.K198N	NM_001099412.1	NP_001092882.1	Q92794	MYST3_HUMAN			3	1137	-			198					Q76L81	Missense_Mutation	SNP	ENST00000396930.3	37	c.594G>T	CCDS6124.1	.	.	.	.	.	.	.	.	.	.	C	9.949	1.219729	0.22373	.	.	ENSG00000083168	ENST00000265713;ENST00000406337;ENST00000396930;ENST00000485568	D;D;D;D	0.87256	-2.23;-2.23;-2.23;-2.23	5.45	3.55	0.40652	.	0.000000	0.64402	D	0.000001	D	0.87450	0.6180	L	0.44542	1.39	0.42281	D	0.992092	P;D	0.69078	0.835;0.997	B;P	0.58520	0.368;0.84	D	0.86015	0.1503	10	0.56958	D	0.05	-34.3684	8.669	0.34138	0.0:0.7336:0.0:0.2664	.	198;198	A5PLL3;Q92794	.;KAT6A_HUMAN	N	198	ENSP00000265713:K198N;ENSP00000385888:K198N;ENSP00000380136:K198N;ENSP00000430606:K198N	ENSP00000265713:K198N	K	-	3	2	KAT6A	42025059	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.788000	0.38714	0.675000	0.31264	0.655000	0.94253	AAG		0.398	KAT6A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318163.1	NM_006766		25	32	1	0	1.2476e-16	1	1.37101e-16	25	32					A	41905902	C	A	41905902	3	1	435	1	0	0	0	0	1	0	0	0	10104	680	24	5	5484	5	MYST3	8	41905902	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	104454	41905902	104458120	4020	24945											
PLAT	5327	broad.mit.edu	37	chr8	42038144	42038144	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggggtgggaggcgatgtcggCgaagagccctcctttgatgc	6	8	18	9	3	0	2	0	1	0	1	2	5	1	3	2	5	2	0	2	5	1	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:42038144C>T	ENST00000220809.4	-	10	1205	c.949G>A	c.(949-951)Gcc>Acc	p.A317T	PLAT_ENST00000270189.6_Intron|PLAT_ENST00000429089.2_Missense_Mutation_p.A317T|PLAT_ENST00000524009.1_Missense_Mutation_p.A228T|PLAT_ENST00000352041.3_Missense_Mutation_p.A271T|PLAT_ENST00000429710.2_Missense_Mutation_p.A191T|PLAT_ENST00000519510.1_Missense_Mutation_p.A254T	NM_000930.3	NP_000921.1	P00750	TPA_HUMAN	plasminogen activator, tissue	317	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				blood coagulation (GO:0007596)|cellular protein modification process (GO:0006464)|fibrinolysis (GO:0042730)|negative regulation of proteolysis (GO:0045861)|plasminogen activation (GO:0031639)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of ovulation (GO:0060279)|proteolysis (GO:0006508)|regulation of synaptic plasticity (GO:0048167)|response to cAMP (GO:0051591)|response to glucocorticoid (GO:0051384)|response to hypoxia (GO:0001666)|response to peptide hormone (GO:0043434)|smooth muscle cell migration (GO:0014909)|synaptic transmission, glutamatergic (GO:0035249)	apical part of cell (GO:0045177)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|secretory granule (GO:0030141)|synapse (GO:0045202)	serine-type endopeptidase activity (GO:0004252)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(10)|skin(1)|soft_tissue(1)|urinary_tract(1)	27	all_cancers(6;3.84e-26)|all_epithelial(6;9.61e-28)|all_lung(13;7.2e-13)|Lung NSC(13;1.18e-11)|Ovarian(28;0.00438)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211)	all_lung(54;0.000378)|Lung NSC(58;0.00145)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	BRCA - Breast invasive adenocarcinoma(8;5.23e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00135)|Colorectal(10;0.00165)|Lung(22;0.00467)|COAD - Colon adenocarcinoma(11;0.0171)|LUSC - Lung squamous cell carcinoma(45;0.024)		Aminocaproic Acid(DB00513)|Ibuprofen(DB01050)|Iloprost(DB01088)|Urokinase(DB00013)	GCGATGTCGGCGAAGAGCCCT	0.642																																						ENST00000220809.4																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(10)|skin(1)|soft_tissue(1)|urinary_tract(1)	27						c.(949-951)Gcc>Acc		plasminogen activator, tissue	Alteplase(DB00009)|Aminocaproic Acid(DB00513)|Anistreplase(DB00029)|Iloprost(DB01088)|Reteplase(DB00015)|Tenecteplase(DB00031)|Tranexamic Acid(DB00302)|Urokinase(DB00013)						63	62	62					8																	42038144		2203	4300	6503	SO:0001583	missense	5327				blood coagulation|fibrinolysis|negative regulation of proteolysis|protein modification process|proteolysis	cell surface|cytoplasm|extracellular space	protein binding|serine-type endopeptidase activity	g.chr8:42038144C>T		CCDS6126.1, CCDS6127.1	8p11.21	2012-10-02			ENSG00000104368	ENSG00000104368			9051	protein-coding gene	gene with protein product		173370					Standard	NM_033011		Approved		uc003xos.2	P00750	OTTHUMG00000164072	ENST00000220809.4:c.949G>A	8.37:g.42038144C>T	ENSP00000220809:p.Ala317Thr					PLAT_ENST00000352041.3_Missense_Mutation_p.A271T|PLAT_ENST00000429710.2_Missense_Mutation_p.A191T|PLAT_ENST00000429089.2_Missense_Mutation_p.A317T|PLAT_ENST00000524009.1_Missense_Mutation_p.A228T|PLAT_ENST00000519510.1_Missense_Mutation_p.A254T|PLAT_ENST00000270189.6_Intron	p.A317T	NM_000930.3	NP_000921.1	P00750	TPA_HUMAN	BRCA - Breast invasive adenocarcinoma(8;5.23e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00135)|Colorectal(10;0.00165)|Lung(22;0.00467)|COAD - Colon adenocarcinoma(11;0.0171)|LUSC - Lung squamous cell carcinoma(45;0.024)		10	1205	-	all_cancers(6;3.84e-26)|all_epithelial(6;9.61e-28)|all_lung(13;7.2e-13)|Lung NSC(13;1.18e-11)|Ovarian(28;0.00438)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211)	all_lung(54;0.000378)|Lung NSC(58;0.00145)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	317			Peptidase S1.		A8K022|B2R8E8|Q15103|Q503B0|Q6PJA5|Q7Z7N2|Q86YK8|Q9BU99|Q9BZW1	Missense_Mutation	SNP	ENST00000220809.4	37	c.949G>A	CCDS6126.1	.	.	.	.	.	.	.	.	.	.	C	0.262	-0.999076	0.02128	.	.	ENSG00000104368	ENST00000429089;ENST00000220809;ENST00000352041;ENST00000519510;ENST00000429710;ENST00000524009	D;D;D;D;D;D	0.89810	-2.57;-2.57;-2.57;-2.57;-2.57;-2.57	5.38	-7.52	0.01341	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.631198	0.16307	N	0.220179	T	0.68641	0.3023	N	0.16037	0.36	0.20873	N	0.999835	B;B;B;B;P;B	0.42483	0.424;0.196;0.03;0.14;0.781;0.165	B;B;B;B;B;B	0.35655	0.055;0.055;0.025;0.207;0.131;0.03	T	0.70583	-0.4832	10	0.08381	T	0.77	.	10.515	0.44885	0.1689:0.1819:0.0:0.6492	.	191;228;254;317;271;317	B4DNJ1;B4DN26;B4DV92;B8ZX62;P00750-3;P00750	.;.;.;.;.;TPA_HUMAN	T	317;317;271;254;191;228	ENSP00000392045:A317T;ENSP00000220809:A317T;ENSP00000270188:A271T;ENSP00000428886:A254T;ENSP00000407861:A191T;ENSP00000429401:A228T	ENSP00000220809:A317T	A	-	1	0	PLAT	42157301	0.000000	0.05858	0.000000	0.03702	0.102000	0.19082	-1.743000	0.01834	-1.543000	0.01723	-0.145000	0.13849	GCC		0.642	PLAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377100.1	NM_000930		16	22	0	0	0	1	0	16	22					T	42038144	C	T	42038144	3	4	435	1	0	0	0	0	1	0	0	0	12021	768	27	1	759	1	PLAT	8	42038144	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	132242	42038144	104325878	4021	24946											
PLAT	5327	broad.mit.edu	37	chr8	42040326	42040326	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcaggatcatggaattccaCgggaggcaggaggcacccga	12	5	14	10	2	2	0	2	0	0	0	3	5	3	4	2	6	0	2	2	6	1	1	rs146917237	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:42040326C>T	ENST00000220809.4	-	8	970	c.714G>A	c.(712-714)ccG>ccA	p.P238P	PLAT_ENST00000270189.6_Silent_p.P238P|PLAT_ENST00000429089.2_Silent_p.P238P|PLAT_ENST00000524009.1_Silent_p.P149P|PLAT_ENST00000352041.3_Silent_p.P192P|PLAT_ENST00000429710.2_Silent_p.P112P|PLAT_ENST00000519510.1_Silent_p.P175P	NM_000930.3	NP_000921.1	P00750	TPA_HUMAN	plasminogen activator, tissue	238	Kringle 2. {ECO:0000255|PROSITE- ProRule:PRU00121}.				blood coagulation (GO:0007596)|cellular protein modification process (GO:0006464)|fibrinolysis (GO:0042730)|negative regulation of proteolysis (GO:0045861)|plasminogen activation (GO:0031639)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of ovulation (GO:0060279)|proteolysis (GO:0006508)|regulation of synaptic plasticity (GO:0048167)|response to cAMP (GO:0051591)|response to glucocorticoid (GO:0051384)|response to hypoxia (GO:0001666)|response to peptide hormone (GO:0043434)|smooth muscle cell migration (GO:0014909)|synaptic transmission, glutamatergic (GO:0035249)	apical part of cell (GO:0045177)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|secretory granule (GO:0030141)|synapse (GO:0045202)	serine-type endopeptidase activity (GO:0004252)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(10)|skin(1)|soft_tissue(1)|urinary_tract(1)	27	all_cancers(6;3.84e-26)|all_epithelial(6;9.61e-28)|all_lung(13;7.2e-13)|Lung NSC(13;1.18e-11)|Ovarian(28;0.00438)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211)	all_lung(54;0.000378)|Lung NSC(58;0.00145)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	BRCA - Breast invasive adenocarcinoma(8;5.23e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00135)|Colorectal(10;0.00165)|Lung(22;0.00467)|COAD - Colon adenocarcinoma(11;0.0171)|LUSC - Lung squamous cell carcinoma(45;0.024)		Aminocaproic Acid(DB00513)|Ibuprofen(DB01050)|Iloprost(DB01088)|Urokinase(DB00013)	TGGAATTCCACGGGAGGCAGG	0.547																																						ENST00000220809.4																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(10)|skin(1)|soft_tissue(1)|urinary_tract(1)	27						c.(712-714)ccG>ccA		plasminogen activator, tissue	Alteplase(DB00009)|Aminocaproic Acid(DB00513)|Anistreplase(DB00029)|Iloprost(DB01088)|Reteplase(DB00015)|Tenecteplase(DB00031)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	C	,	2,4404	4.2+/-10.8	0,2,2201	116	115	116		714,576	-1.5	0.1	8	dbSNP_134	116	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	PLAT	NM_000930.3,NM_033011.2	,	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	,	238/563,192/517	42040326	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	5327				blood coagulation|fibrinolysis|negative regulation of proteolysis|protein modification process|proteolysis	cell surface|cytoplasm|extracellular space	protein binding|serine-type endopeptidase activity	g.chr8:42040326C>T		CCDS6126.1, CCDS6127.1	8p11.21	2012-10-02			ENSG00000104368	ENSG00000104368			9051	protein-coding gene	gene with protein product		173370					Standard	NM_033011		Approved		uc003xos.2	P00750	OTTHUMG00000164072	ENST00000220809.4:c.714G>A	8.37:g.42040326C>T						PLAT_ENST00000352041.3_Silent_p.P192P|PLAT_ENST00000429710.2_Silent_p.P112P|PLAT_ENST00000429089.2_Silent_p.P238P|PLAT_ENST00000524009.1_Silent_p.P149P|PLAT_ENST00000519510.1_Silent_p.P175P|PLAT_ENST00000270189.6_Silent_p.P238P	p.P238P	NM_000930.3	NP_000921.1	P00750	TPA_HUMAN	BRCA - Breast invasive adenocarcinoma(8;5.23e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00135)|Colorectal(10;0.00165)|Lung(22;0.00467)|COAD - Colon adenocarcinoma(11;0.0171)|LUSC - Lung squamous cell carcinoma(45;0.024)		8	970	-	all_cancers(6;3.84e-26)|all_epithelial(6;9.61e-28)|all_lung(13;7.2e-13)|Lung NSC(13;1.18e-11)|Ovarian(28;0.00438)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211)	all_lung(54;0.000378)|Lung NSC(58;0.00145)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	238			Kringle 2.		A8K022|B2R8E8|Q15103|Q503B0|Q6PJA5|Q7Z7N2|Q86YK8|Q9BU99|Q9BZW1	Silent	SNP	ENST00000220809.4	37	c.714G>A	CCDS6126.1																																																																																				0.547	PLAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377100.1	NM_000930		37	54	0	0	0	1	0	37	54					T	42040326	C	T	42040326	2	4	435	1	0	0	0	0	0	0	0	1	12021	523	19	1		1	PLAT	8	42040326	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	2182	42040326	104323696	4022	24947											
CHRNA6	8973	broad.mit.edu	37	chr8	42611543	42611543	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cgtcactttttcaccacagtCcgaaggaaggtaaaagacca	14	8	8	11	2	2	1	2	0	0	1	3	3	3	2	3	2	0	1	3	2	4	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:42611543C>T	ENST00000276410.2	-	5	1154	c.799G>A	c.(799-801)Gac>Aac	p.D267N	CHRNA6_ENST00000530869.1_5'Flank|CHRNA6_ENST00000534622.1_Missense_Mutation_p.D252N	NM_004198.3	NP_004189.1	Q15825	ACHA6_HUMAN	cholinergic receptor, nicotinic, alpha 6 (neuronal)	267					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|membrane depolarization (GO:0051899)|regulation of dopamine secretion (GO:0014059)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transport (GO:0006810)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)			endometrium(2)|large_intestine(3)|liver(1)|lung(15)|ovary(1)	22	all_lung(13;3.33e-12)|Lung NSC(13;9.17e-11)|Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00439)|Lung NSC(58;0.0124)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	Lung(22;0.0252)|LUSC - Lung squamous cell carcinoma(45;0.0869)		Galantamine(DB00674)|Nicotine(DB00184)|Varenicline(DB01273)	TCACCACAGTCCGAAGGAAGG	0.408																																						ENST00000276410.2																			0				endometrium(2)|large_intestine(3)|liver(1)|lung(15)|ovary(1)	22						c.(799-801)Gac>Aac		cholinergic receptor, nicotinic, alpha 6 (neuronal)							101	92	95					8																	42611543		2203	4300	6503	SO:0001583	missense	8973					cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity	g.chr8:42611543C>T	U62435	CCDS6135.1, CCDS56536.1	8p22	2012-02-11	2012-02-07					"Cholinergic receptors", "Ligand-gated ion channels / Acetylcholine receptors, nicotinic"	15963	protein-coding gene	gene with protein product	"acetylcholine receptor, nicotinic, alpha 6 (neuronal)"	606888	"cholinergic receptor, nicotinic, alpha polypeptide 6"			8906617	Standard	NM_004198		Approved		uc003xpj.3	Q15825		ENST00000276410.2:c.799G>A	8.37:g.42611543C>T	ENSP00000276410:p.Asp267Asn					CHRNA6_ENST00000534622.1_Missense_Mutation_p.D252N	p.D267N	NM_004198.3	NP_004189.1	Q15825	ACHA6_HUMAN	Lung(22;0.0252)|LUSC - Lung squamous cell carcinoma(45;0.0869)		5	1154	-	all_lung(13;3.33e-12)|Lung NSC(13;9.17e-11)|Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00439)|Lung NSC(58;0.0124)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	267					B2R8V4|B4DQH1	Missense_Mutation	SNP	ENST00000276410.2	37	c.799G>A	CCDS6135.1	.	.	.	.	.	.	.	.	.	.	C	25.4	4.634276	0.87660	.	.	ENSG00000147434	ENST00000276410;ENST00000534622	T;T	0.74209	-0.82;-0.82	5.97	5.97	0.96955	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.082700	0.85682	D	0.000000	D	0.87966	0.6311	M	0.83953	2.67	0.80722	D	1	P;D	0.61697	0.859;0.99	P;D	0.71184	0.877;0.972	D	0.88217	0.2894	10	0.72032	D	0.01	.	20.4239	0.99064	0.0:1.0:0.0:0.0	.	252;267	B4DQH1;Q15825	.;ACHA6_HUMAN	N	267;252	ENSP00000276410:D267N;ENSP00000433871:D252N	ENSP00000276410:D267N	D	-	1	0	CHRNA6	42730700	1.000000	0.71417	0.990000	0.47175	0.871000	0.50021	6.018000	0.70811	2.828000	0.97474	0.655000	0.94253	GAC		0.408	CHRNA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383156.1			11	25	0	0	0	1	0	11	25					T	42611543	C	T	42611543	3	4	435	1	0	0	0	0	1	0	0	0	3387	855	30	3	693	3	CHRNA6	8	42611543	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	571217	42611543	103752479	4023	24948											
CHRNA6	8973	broad.mit.edu	37	chr8	42611574	42611574	+	Frame_Shift_Del	DEL	A	A	-																															taaaagaccaacacggttagAaatgaaataaagagacaagg																										TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:42611574delA	ENST00000276410.2	-	5	1123	c.768delT	c.(766-768)tttfs	p.F256fs	CHRNA6_ENST00000530869.1_5'Flank|CHRNA6_ENST00000534622.1_Frame_Shift_Del_p.F241fs	NM_004198.3	NP_004189.1	Q15825	ACHA6_HUMAN	cholinergic receptor, nicotinic, alpha 6 (neuronal)	256					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|membrane depolarization (GO:0051899)|regulation of dopamine secretion (GO:0014059)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transport (GO:0006810)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)			endometrium(2)|large_intestine(3)|liver(1)|lung(15)|ovary(1)	22	all_lung(13;3.33e-12)|Lung NSC(13;9.17e-11)|Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00439)|Lung NSC(58;0.0124)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	Lung(22;0.0252)|LUSC - Lung squamous cell carcinoma(45;0.0869)		Galantamine(DB00674)|Nicotine(DB00184)|Varenicline(DB01273)	ACACGGTTAGAAATGAAATAA	0.378																																						ENST00000276410.2																			0				endometrium(2)|large_intestine(3)|liver(1)|lung(15)|ovary(1)	22						c.(766-768)ttfs		cholinergic receptor, nicotinic, alpha 6 (neuronal)							99	95	96					8																	42611574		2203	4300	6503	SO:0001589	frameshift_variant	8973					cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity	g.chr8:42611574delA	U62435	CCDS6135.1, CCDS56536.1	8p22	2012-02-11	2012-02-07					"Cholinergic receptors", "Ligand-gated ion channels / Acetylcholine receptors, nicotinic"	15963	protein-coding gene	gene with protein product	"acetylcholine receptor, nicotinic, alpha 6 (neuronal)"	606888	"cholinergic receptor, nicotinic, alpha polypeptide 6"			8906617	Standard	NM_004198		Approved		uc003xpj.3	Q15825		ENST00000276410.2:c.768delT	8.37:g.42611574delA	ENSP00000276410:p.Phe256fs					CHRNA6_ENST00000534622.1_Frame_Shift_Del_p.F241fs	p.F256fs	NM_004198.3	NP_004189.1	Q15825	ACHA6_HUMAN	Lung(22;0.0252)|LUSC - Lung squamous cell carcinoma(45;0.0869)		5	1123	-	all_lung(13;3.33e-12)|Lung NSC(13;9.17e-11)|Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00439)|Lung NSC(58;0.0124)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	256					B2R8V4|B4DQH1	Frame_Shift_Del	DEL	ENST00000276410.2	37	c.768delT	CCDS6135.1																																																																																				0.378	CHRNA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383156.1			20	27						20	27	---	---	---	---	-	42611574	A	-	42611574	7	5	435	1	0	1	0	1	0	0	0	0	3387	243	9	0	724	0	CHRNA6	8	42611574	Frame_Shift_Del	DEL	A	TCGA-XK-AAIW-01A-11D-A41K-08	31	42611574	103752448	4024	24949											
CHRNA6	8973	broad.mit.edu	37	chr8	42614217	42614217	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gatataggcacatacgtgacGcagccacaaattggtttcca	13	9	9	10	2	0	1	0	1	0	0	1	2	1	1	2	2	2	3	2	2	4	5	rs201337765		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:42614217G>A	ENST00000276410.2	-	3	614	c.259C>T	c.(259-261)Cgt>Tgt	p.R87C	CHRNA6_ENST00000530869.1_5'UTR|CHRNA6_ENST00000534622.1_Intron	NM_004198.3	NP_004189.1	Q15825	ACHA6_HUMAN	cholinergic receptor, nicotinic, alpha 6 (neuronal)	87					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|membrane depolarization (GO:0051899)|regulation of dopamine secretion (GO:0014059)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transport (GO:0006810)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)			endometrium(2)|large_intestine(3)|liver(1)|lung(15)|ovary(1)	22	all_lung(13;3.33e-12)|Lung NSC(13;9.17e-11)|Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00439)|Lung NSC(58;0.0124)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	Lung(22;0.0252)|LUSC - Lung squamous cell carcinoma(45;0.0869)		Galantamine(DB00674)|Nicotine(DB00184)|Varenicline(DB01273)	CATACGTGACGCAGCCACAAA	0.393																																						ENST00000276410.2																			0				endometrium(2)|large_intestine(3)|liver(1)|lung(15)|ovary(1)	22						c.(259-261)Cgt>Tgt		cholinergic receptor, nicotinic, alpha 6 (neuronal)		G	,CYS/ARG	0,4406		0,0,2203	194	166	176		,259	5.7	1	8		176	2,8598	2.2+/-6.3	0,2,4298	yes	intron,missense	CHRNA6	NM_001199279.1,NM_004198.3	,180	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	,probably-damaging	,87/495	42614217	2,13004	2203	4300	6503	SO:0001583	missense	8973					cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity	g.chr8:42614217G>A	U62435	CCDS6135.1, CCDS56536.1	8p22	2012-02-11	2012-02-07					"Cholinergic receptors", "Ligand-gated ion channels / Acetylcholine receptors, nicotinic"	15963	protein-coding gene	gene with protein product	"acetylcholine receptor, nicotinic, alpha 6 (neuronal)"	606888	"cholinergic receptor, nicotinic, alpha polypeptide 6"			8906617	Standard	NM_004198		Approved		uc003xpj.3	Q15825		ENST00000276410.2:c.259C>T	8.37:g.42614217G>A	ENSP00000276410:p.Arg87Cys					CHRNA6_ENST00000534622.1_Intron|CHRNA6_ENST00000530869.1_5'UTR	p.R87C	NM_004198.3	NP_004189.1	Q15825	ACHA6_HUMAN	Lung(22;0.0252)|LUSC - Lung squamous cell carcinoma(45;0.0869)		3	614	-	all_lung(13;3.33e-12)|Lung NSC(13;9.17e-11)|Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00439)|Lung NSC(58;0.0124)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	87					B2R8V4|B4DQH1	Missense_Mutation	SNP	ENST00000276410.2	37	c.259C>T	CCDS6135.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.247735	0.80024	0.0	2.33E-4	ENSG00000147434	ENST00000276410;ENST00000533810	T;T	0.80566	-1.39;-1.39	5.74	5.74	0.90152	Neurotransmitter-gated ion-channel ligand-binding (3);	0.000000	0.85682	D	0.000000	D	0.89798	0.6819	M	0.80183	2.485	0.80722	D	1	D	0.89917	1.0	D	0.77004	0.989	D	0.90681	0.4605	10	0.87932	D	0	.	15.6001	0.76616	0.0:0.0:0.8541:0.1459	.	87	Q15825	ACHA6_HUMAN	C	87;8	ENSP00000276410:R87C;ENSP00000434659:R8C	ENSP00000276410:R87C	R	-	1	0	CHRNA6	42733374	0.998000	0.40836	1.000000	0.80357	0.958000	0.62258	2.420000	0.44679	2.712000	0.92718	0.561000	0.74099	CGT		0.393	CHRNA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383156.1			21	53	0	0	0	1	0	21	53					A	42614217	G	A	42614217	3	1	435	1	0	0	0	0	1	0	0	0	3387	1087	38	1	1241	1	CHRNA6	8	42614217	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	2643	42614217	103749805	4025	24950											
KIAA0146	23514	broad.mit.edu	37	chr8	48614416	48614416	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agttacccgctgcttaagagAcattctccaggtaatgtctt	10	13	8	10	1	2	1	0	0	2	1	3	2	2	1	2	1	2	4	2	1	3	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:48614416A>G	ENST00000297423.4	+	13	2291	c.1907A>G	c.(1906-1908)gAc>gGc	p.D636G	SPIDR_ENST00000517693.1_Missense_Mutation_p.D111G|SPIDR_ENST00000541342.1_Missense_Mutation_p.D566G|SPIDR_ENST00000518074.1_Missense_Mutation_p.D576G|SPIDR_ENST00000521214.1_3'UTR	NM_001080394.2|NM_001282916.1	NP_001073863.1|NP_001269845.1	Q14159	SPIDR_HUMAN	scaffolding protein involved in DNA repair	636					cellular response to camptothecin (GO:0072757)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to hydroxyurea (GO:0072711)|cellular response to ionizing radiation (GO:0071479)|double-strand break repair via homologous recombination (GO:0000724)|positive regulation of double-strand break repair (GO:2000781)|positive regulation of protein complex assembly (GO:0031334)|regulation of double-strand break repair via homologous recombination (GO:0010569)|regulation of establishment of protein localization to chromosome (GO:0070202)	nuclear chromosome (GO:0000228)											TGCTTAAGAGACATTCTCCAG	0.418																																						ENST00000297423.4																			0											c.(1906-1908)gAc>gGc		scaffolding protein involved in DNA repair							191	180	183					8																	48614416		1873	4105	5978	SO:0001583	missense	23514							g.chr8:48614416A>G	AK055680	CCDS43737.1, CCDS64890.1, CCDS64891.1	8q11.21	2013-07-02	2013-07-02	2013-07-02	ENSG00000164808	ENSG00000164808			28971	protein-coding gene	gene with protein product		615384	"KIAA0146"	KIAA0146		8590280, 23509288	Standard	XM_005251189		Approved		uc003xqd.3	Q14159	OTTHUMG00000164176	ENST00000297423.4:c.1907A>G	8.37:g.48614416A>G	ENSP00000297423:p.Asp636Gly					SPIDR_ENST00000517693.1_Missense_Mutation_p.D111G|SPIDR_ENST00000521214.1_3'UTR|SPIDR_ENST00000518074.1_Missense_Mutation_p.D576G|SPIDR_ENST00000541342.1_Missense_Mutation_p.D566G	p.D636G	NM_001080394.2	NP_001073863.1					13	2291	+								B4DFV2|B4E0Y6|Q96BI5	Missense_Mutation	SNP	ENST00000297423.4	37	c.1907A>G	CCDS43737.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	11.04|11.04	1.520823|1.520823	0.27211|0.27211	.|.	.|.	ENSG00000164808|ENSG00000164808	ENST00000297423;ENST00000518074;ENST00000541342;ENST00000519141;ENST00000517693;ENST00000519362|ENST00000519401	.|.	.|.	.|.	5.37|5.37	5.37|5.37	0.77165|0.77165	.|.	0.342223|.	0.31461|.	N|.	0.007615|.	T|T	0.53769|0.53769	0.1817|0.1817	L|L	0.29908|0.29908	0.895|0.895	0.38800|0.38800	D|D	0.955171|0.955171	B;B;D;P;P;P;B;P|.	0.56521|.	0.112;0.112;0.976;0.844;0.867;0.728;0.112;0.844|.	B;B;P;P;B;B;B;P|.	0.53360|.	0.049;0.049;0.724;0.503;0.382;0.366;0.049;0.503|.	T|T	0.54437|0.54437	-0.8294|-0.8294	9|5	0.33940|.	T|.	0.23|.	.|.	13.647|13.647	0.62288|0.62288	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	126;141;576;566;636;325;111;636|.	B4DZY2;B4DWT8;B4E0Y6;B4DFV2;B4DEV5;B4DFT3;B3KP42;Q14159|.	.;.;.;.;.;.;.;K0146_HUMAN|.	G|A	636;576;566;141;111;111|318	.|.	ENSP00000297423:D636G|.	D|T	+|+	2|1	0|0	KIAA0146|KIAA0146	48776969|48776969	0.994000|0.994000	0.37717|0.37717	0.600000|0.600000	0.28864|0.28864	0.323000|0.323000	0.28346|0.28346	3.555000|3.555000	0.53727|0.53727	2.056000|2.056000	0.61249|0.61249	0.529000|0.529000	0.55759|0.55759	GAC|ACA		0.418	SPIDR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000377611.1	NM_001080394		97	110	0	0	0	1	0	97	110					G	48614416	A	G	48614416	3	3	435	1	0	0	0	0	1	0	0	0	8157	275	10	4	1957	4	KIAA0146	8	48614416	Missense_Mutation	SNP	A	TCGA-XK-AAIW-01A-11D-A41K-08	6000199	48614416	97749606	4026	24951											
PRKDC	5591	broad.mit.edu	37	chr8	48761940	48761940	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gatccctggacagcccatacCtgtctgcaagaggagggaag	11	6	13	11	0	1	1	0	0	1	1	2	5	2	4	3	3	3	1	3	3	3	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:48761940C>A	ENST00000314191.2	-	54	7183	c.7127G>T	c.(7126-7128)aGg>aTg	p.R2376M	PRKDC_ENST00000338368.3_Splice_Site_p.R2376M|PRKDC_ENST00000523565.1_5'UTR	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	2377					B cell lineage commitment (GO:0002326)|brain development (GO:0007420)|cellular protein modification process (GO:0006464)|cellular response to insulin stimulus (GO:0032869)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|ectopic germ cell programmed cell death (GO:0035234)|heart development (GO:0007507)|immunoglobulin V(D)J recombination (GO:0033152)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of protein phosphorylation (GO:0001933)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|pro-B cell differentiation (GO:0002328)|protein destabilization (GO:0031648)|regulation of circadian rhythm (GO:0042752)|response to gamma radiation (GO:0010332)|rhythmic process (GO:0048511)|signal transduction involved in mitotic G1 DNA damage checkpoint (GO:0072431)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell receptor V(D)J recombination (GO:0033153)|telomere maintenance (GO:0000723)	cytosol (GO:0005829)|DNA-dependent protein kinase-DNA ligase 4 complex (GO:0005958)|membrane (GO:0016020)|nonhomologous end joining complex (GO:0070419)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transcription factor binding (GO:0008134)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)			Caffeine(DB00201)	CAGCCCATACCTGTCTGCAAG	0.517								Non-homologous end-joining																													Esophageal Squamous(79;1091 1253 12329 31680 40677)	ENST00000314191.2																			0				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147						c.e54+1	Non-homologous end-joining	protein kinase, DNA-activated, catalytic polypeptide							177	171	173					8																	48761940		1919	4128	6047	SO:0001630	splice_region_variant	5591				cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding	g.chr8:48761940C>A		CCDS75734.1, CCDS75735.1	8q11	2014-09-17				ENSG00000253729	2.7.11.1		9413	protein-coding gene	gene with protein product		600899		HYRC, HYRC1		7638222	Standard	NM_001081640		Approved	DNPK1, p350, DNAPK, XRCC7, DNA-PKcs	uc003xqi.3	P78527		ENST00000314191.2:c.7127+1G>T	8.37:g.48761940C>A						PRKDC_ENST00000523565.1_5'UTR|PRKDC_ENST00000338368.3_Splice_Site_p.R2376_splice	p.R2376_splice	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN			54	7183	-		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)	2377					P78528|Q13327|Q13337|Q14175|Q59H99|Q7Z611|Q96SE6|Q9UME3	Splice_Site	SNP	ENST00000314191.2	37	c.7127_splice		.	.	.	.	.	.	.	.	.	.	C	25.0	4.593071	0.86953	.	.	ENSG00000253729	ENST00000314191;ENST00000338368	T;T	0.54071	0.59;0.59	5.12	5.12	0.69794	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.72399	0.3455	M	0.79805	2.47	0.80722	D	1	D;D	0.71674	0.998;0.998	P;P	0.62813	0.907;0.907	T	0.74659	-0.3591	9	.	.	.	.	17.9172	0.88955	0.0:1.0:0.0:0.0	.	2376;2377	E7EUY0;P78527	.;PRKDC_HUMAN	M	2376	ENSP00000313420:R2376M;ENSP00000345182:R2376M	.	R	-	2	0	PRKDC	48924493	1.000000	0.71417	1.000000	0.80357	0.875000	0.50365	5.391000	0.66266	2.539000	0.85634	0.655000	0.94253	AGG		0.517	PRKDC-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001081640	Missense_Mutation	34	54	1	0	4.4194e-11	1	4.74656e-11	34	54					A	48761940	C	A	48761940	5	1	435	1	0	0	0	0	0	0	1	0	12521	695	24	5	5392	5	PRKDC	8	48761940	Splice_Site	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	147524	48761940	97602082	4027	24952											
PRKDC	5591	broad.mit.edu	37	chr8	48798701	48798701	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaggagaagactcacaaggCgctcacactgggaaaaagaa	17	4	11	9	1	3	3	3	0	0	3	3	5	3	4	0	3	0	1	0	3	5	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:48798701C>T	ENST00000314191.2	-	37	4633	c.4577G>A	c.(4576-4578)cGc>cAc	p.R1526H	PRKDC_ENST00000338368.3_Missense_Mutation_p.R1526H|PRKDC_ENST00000523565.1_5'UTR	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	1527	Interaction with C1D.|Leucine-zipper.				B cell lineage commitment (GO:0002326)|brain development (GO:0007420)|cellular protein modification process (GO:0006464)|cellular response to insulin stimulus (GO:0032869)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|ectopic germ cell programmed cell death (GO:0035234)|heart development (GO:0007507)|immunoglobulin V(D)J recombination (GO:0033152)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of protein phosphorylation (GO:0001933)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|pro-B cell differentiation (GO:0002328)|protein destabilization (GO:0031648)|regulation of circadian rhythm (GO:0042752)|response to gamma radiation (GO:0010332)|rhythmic process (GO:0048511)|signal transduction involved in mitotic G1 DNA damage checkpoint (GO:0072431)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell receptor V(D)J recombination (GO:0033153)|telomere maintenance (GO:0000723)	cytosol (GO:0005829)|DNA-dependent protein kinase-DNA ligase 4 complex (GO:0005958)|membrane (GO:0016020)|nonhomologous end joining complex (GO:0070419)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transcription factor binding (GO:0008134)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)			Caffeine(DB00201)	ACTCACAAGGCGCTCACACTG	0.512								Non-homologous end-joining																													Esophageal Squamous(79;1091 1253 12329 31680 40677)	ENST00000314191.2																			0				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147						c.(4576-4578)cGc>cAc	Non-homologous end-joining	protein kinase, DNA-activated, catalytic polypeptide							40	43	42					8																	48798701		1925	4140	6065	SO:0001583	missense	5591				cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding	g.chr8:48798701C>T		CCDS75734.1, CCDS75735.1	8q11	2014-09-17				ENSG00000253729	2.7.11.1		9413	protein-coding gene	gene with protein product		600899		HYRC, HYRC1		7638222	Standard	NM_001081640		Approved	DNPK1, p350, DNAPK, XRCC7, DNA-PKcs	uc003xqi.3	P78527		ENST00000314191.2:c.4577G>A	8.37:g.48798701C>T	ENSP00000313420:p.Arg1526His					PRKDC_ENST00000523565.1_5'UTR|PRKDC_ENST00000338368.3_Missense_Mutation_p.R1526H	p.R1526H	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN			37	4633	-		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)	1527			Interaction with C1D.|Leucine-zipper.		P78528|Q13327|Q13337|Q14175|Q59H99|Q7Z611|Q96SE6|Q9UME3	Missense_Mutation	SNP	ENST00000314191.2	37	c.4577G>A		.	.	.	.	.	.	.	.	.	.	C	9.121	1.008939	0.19199	.	.	ENSG00000253729	ENST00000314191;ENST00000338368	T;T	0.02395	4.38;4.31	5.62	-6.49	0.01890	.	1.047270	0.07413	N	0.892661	T	0.01627	0.0052	N	0.03608	-0.345	0.21967	N	0.999445	B;B	0.09022	0.002;0.001	B;B	0.06405	0.002;0.001	T	0.48525	-0.9028	10	0.13853	T	0.58	.	17.9597	0.89082	0.0:0.0854:0.0:0.9146	.	1526;1527	E7EUY0;P78527	.;PRKDC_HUMAN	H	1526	ENSP00000313420:R1526H;ENSP00000345182:R1526H	ENSP00000313420:R1526H	R	-	2	0	PRKDC	48961254	0.545000	0.26449	0.005000	0.12908	0.102000	0.19082	0.247000	0.18179	-1.537000	0.01736	-0.796000	0.03273	CGC		0.512	PRKDC-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001081640		5	8	0	0	0	1	0	5	8					T	48798701	C	T	48798701	3	4	435	1	0	0	0	0	1	0	0	0	12521	768	27	1	8010	1	PRKDC	8	48798701	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	36761	48798701	97565321	4028	24953											
ST18	9705	broad.mit.edu	37	chr8	53084572	53084572	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtcattactgccaggctctcGctatcttcctcctcaacgtc	6	13	6	16	2	4	0	2	0	2	0	8	0	6	0	3	1	3	2	3	1	3	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:53084572G>A	ENST00000276480.7	-	10	1532	c.849C>T	c.(847-849)agC>agT	p.S283S		NM_014682.2	NP_055497.1	O60284	ST18_HUMAN	suppression of tumorigenicity 18, zinc finger	283					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				CCAGGCTCTCGCTATCTTCCT	0.537																																						ENST00000276480.7																			0				NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85						c.(847-849)agC>agT		suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein)							97	93	94					8																	53084572		2203	4300	6503	SO:0001819	synonymous_variant	9705					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:53084572G>A	AB011107	CCDS6149.1	8q11.23	2014-03-24	2014-03-24	2002-12-13	ENSG00000147488	ENSG00000147488		"Zinc fingers, C2HC-type containing"	18695	protein-coding gene	gene with protein product	"neural zinc finger transcription factor 3"		"zinc finger protein 387", "suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein)"	ZNF387		15489893	Standard	NM_014682		Approved	KIAA0535, ZC2HC10, NZF3	uc003xra.2	O60284	OTTHUMG00000164233	ENST00000276480.7:c.849C>T	8.37:g.53084572G>A							p.S283S	NM_014682.2	NP_055497.1	O60284	ST18_HUMAN			10	1532	-		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)	283					Q17RY1	Silent	SNP	ENST00000276480.7	37	c.849C>T	CCDS6149.1																																																																																				0.537	ST18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377867.1			22	37	0	0	0	1	0	22	37					A	53084572	G	A	53084572	2	1	435	1	0	0	0	0	0	0	0	1	15211	1078	38	1		1	ST18	8	53084572	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	4285871	53084572	93279450	4029	24954											
RB1CC1	9821	broad.mit.edu	37	chr8	53573719	53573719	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caacagctaagcagtacatcTgaggaactgtactaagagct	15	8	9	9	0	1	2	0	1	1	1	1	3	1	3	0	1	7	5	0	1	6	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:53573719T>C	ENST00000025008.5	-	10	2004	c.1481A>G	c.(1480-1482)cAg>cGg	p.Q494R	RB1CC1_ENST00000521611.1_Intron|RB1CC1_ENST00000539297.1_Missense_Mutation_p.Q494R|RB1CC1_ENST00000435644.2_Missense_Mutation_p.Q494R	NM_014781.4	NP_055596.3	Q8TDY2	RBCC1_HUMAN	RB1-inducible coiled-coil 1	494					autophagic vacuole assembly (GO:0000045)|cell cycle (GO:0007049)|heart development (GO:0007507)|JNK cascade (GO:0007254)|liver development (GO:0001889)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell size (GO:0045793)|positive regulation of protein phosphorylation (GO:0001934)|regulation of autophagy (GO:0010506)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|pre-autophagosomal structure membrane (GO:0034045)|ULK1-ATG13-FIP200 complex (GO:0070969)				NS(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(19)|ovary(8)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	60		all_cancers(86;0.137)|all_epithelial(80;0.00494)|Lung NSC(129;0.011)|all_lung(136;0.023)				GCAGTACATCTGAGGAACTGT	0.373																																					GBM(180;1701 2102 13475 42023 52570)	ENST00000025008.5																			0				NS(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(19)|ovary(8)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	60						c.(1480-1482)cAg>cGg		RB1-inducible coiled-coil 1							108	103	105					8																	53573719		2203	4300	6503	SO:0001583	missense	9821				autophagy|cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex	protein binding	g.chr8:53573719T>C	AB059622	CCDS34892.1, CCDS47856.1	8q11	2014-06-13				ENSG00000023287			15574	protein-coding gene	gene with protein product	"200 kDa FAK family kinase-interacting protein", "phosphatase 1, regulatory subunit 131"	606837				11850849, 7724523, 18443221	Standard	NM_014781		Approved	KIAA0203, Cc1, DRAGOU14, FIP200, ATG17, PPP1R131	uc003xre.4	Q8TDY2		ENST00000025008.5:c.1481A>G	8.37:g.53573719T>C	ENSP00000025008:p.Gln494Arg					RB1CC1_ENST00000435644.2_Missense_Mutation_p.Q494R|RB1CC1_ENST00000521611.1_Intron|RB1CC1_ENST00000539297.1_Missense_Mutation_p.Q494R	p.Q494R	NM_014781.4	NP_055596.3	Q8TDY2	RBCC1_HUMAN			10	2004	-		all_cancers(86;0.137)|all_epithelial(80;0.00494)|Lung NSC(129;0.011)|all_lung(136;0.023)	494					Q86YR4|Q8WVU9|Q92601	Missense_Mutation	SNP	ENST00000025008.5	37	c.1481A>G	CCDS34892.1	.	.	.	.	.	.	.	.	.	.	T	17.11	3.304893	0.60305	.	.	ENSG00000023287	ENST00000025008;ENST00000435644;ENST00000539297	T;T;T	0.15718	2.4;2.4;2.4	5.37	5.37	0.77165	.	0.000000	0.85682	D	0.000000	T	0.41719	0.1171	M	0.69823	2.125	0.80722	D	1	D;D	0.67145	0.996;0.993	D;D	0.75484	0.986;0.968	T	0.24548	-1.0157	10	0.51188	T	0.08	-12.9131	15.6626	0.77199	0.0:0.0:0.0:1.0	.	494;494	Q8TDY2-2;Q8TDY2	.;RBCC1_HUMAN	R	494	ENSP00000025008:Q494R;ENSP00000396067:Q494R;ENSP00000445960:Q494R	ENSP00000025008:Q494R	Q	-	2	0	RB1CC1	53736272	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.225000	0.72271	2.161000	0.67846	0.528000	0.53228	CAG		0.373	RB1CC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000378011.1	NM_014781		5	80	0	0	0	1	0	5	80					C	53573719	T	C	53573719	3	2	435	1	0	0	0	0	1	0	0	0	13099	1580	55	4	3363	4	RB1CC1	8	53573719	Missense_Mutation	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	489147	53573719	92790303	4030	24955											
OPRK1	4986	broad.mit.edu	37	chr8	54147579	54147579	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aggaattcatcaagtagaccGtactctgaaagggcatggtt	13	10	11	7	1	3	2	2	1	1	1	3	3	3	3	1	3	1	4	1	3	5	4	rs527490946		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:54147579G>A	ENST00000265572.3	-	3	647	c.350C>T	c.(349-351)aCg>aTg	p.T117M	OPRK1_ENST00000524278.1_Missense_Mutation_p.T28M|OPRK1_ENST00000520287.1_Missense_Mutation_p.T117M|RP11-162D9.3_ENST00000524425.1_RNA	NM_000912.3	NP_000903.2	P41145	OPRK_HUMAN	opioid receptor, kappa 1	117					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-inhibiting opioid receptor signaling pathway (GO:0031635)|behavior (GO:0007610)|defense response to virus (GO:0051607)|immune response (GO:0006955)|locomotory behavior (GO:0007626)|opioid receptor signaling pathway (GO:0038003)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|regulation of saliva secretion (GO:0046877)|sensory perception (GO:0007600)|sensory perception of pain (GO:0019233)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	dynorphin receptor activity (GO:0038048)|opioid receptor activity (GO:0004985)			NS(2)|breast(3)|endometrium(3)|kidney(12)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1)	43		all_epithelial(80;0.066)|Lung NSC(129;0.0804)|all_lung(136;0.136)			Alvimopan(DB06274)|Amitriptyline(DB00321)|Buprenorphine(DB00921)|Butorphanol(DB00611)|Codeine(DB00318)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Dezocine(DB01209)|Fentanyl(DB00813)|Heroin(DB01452)|Hydromorphone(DB00327)|Ketamine(DB01221)|Ketobemidone(DB06738)|Levorphanol(DB00854)|Loperamide(DB00836)|Menthol(DB00825)|Methylnaltrexone(DB06800)|Mianserin(DB06148)|Mirtazapine(DB00370)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Oxycodone(DB00497)|Pentazocine(DB00652)|Pethidine(DB00454)|Progesterone(DB00396)|Remifentanil(DB00899)|Sufentanil(DB00708)|Tapentadol(DB06204)|Tramadol(DB00193)	CAAGTAGACCGTACTCTGAAA	0.403													G|||	1	0.000199681	0	0	5008	,	,		21904	0		0	False		,,,				2504	0.001					ENST00000265572.3																			0				NS(2)|breast(3)|endometrium(3)|kidney(12)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1)	43						c.(349-351)aCg>aTg		opioid receptor, kappa 1	Buprenorphine(DB00921)|Butorphanol(DB00611)|Cocaine(DB00907)|Codeine(DB00318)|Dezocine(DB01209)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Meperidine(DB00454)|Mirtazapine(DB00370)|Morphine(DB00295)|Nalbuphine(DB00844)|Naltrexone(DB00704)|Oxycodone(DB00497)|Pentazocine(DB00652)|Propoxyphene(DB00647)|Tramadol(DB00193)						177	167	171					8																	54147579		2203	4300	6503	SO:0001583	missense	4986				behavior|immune response|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception|synaptic transmission|viral genome replication	integral to plasma membrane	kappa-opioid receptor activity|protein binding	g.chr8:54147579G>A		CCDS6152.1, CCDS64895.1	8q11.2	2014-05-21			ENSG00000082556	ENSG00000082556		"GPCR / Class A : Opioid receptors"	8154	protein-coding gene	gene with protein product		165196				8188308	Standard	XM_005251252		Approved	KOR, OPRK	uc003xri.1	P41145	OTTHUMG00000164276	ENST00000265572.3:c.350C>T	8.37:g.54147579G>A	ENSP00000265572:p.Thr117Met					RP11-162D9.3_ENST00000524425.1_RNA|OPRK1_ENST00000520287.1_Missense_Mutation_p.T117M|OPRK1_ENST00000524278.1_Missense_Mutation_p.T28M	p.T117M	NM_000912.3	NP_000903.2	P41145	OPRK_HUMAN			3	647	-		all_epithelial(80;0.066)|Lung NSC(129;0.0804)|all_lung(136;0.136)	117					E5RHC9|Q499G4	Missense_Mutation	SNP	ENST00000265572.3	37	c.350C>T	CCDS6152.1	.	.	.	.	.	.	.	.	.	.	G	16.69	3.192430	0.58017	.	.	ENSG00000082556	ENST00000265572;ENST00000524278;ENST00000520287;ENST00000396798	T;T;T	0.72505	-0.66;-0.66;-0.66	5.95	5.95	0.96441	GPCR, rhodopsin-like superfamily (1);	0.084732	0.85682	D	0.000000	D	0.83422	0.5251	M	0.79693	2.465	0.80722	D	1	D	0.54964	0.969	P	0.58266	0.836	T	0.81331	-0.0981	10	0.36615	T	0.2	.	20.3732	0.98896	0.0:0.0:1.0:0.0	.	117	P41145	OPRK_HUMAN	M	117;28;117;103	ENSP00000265572:T117M;ENSP00000430923:T28M;ENSP00000429706:T117M	ENSP00000265572:T117M	T	-	2	0	OPRK1	54310132	1.000000	0.71417	0.862000	0.33874	0.421000	0.31385	9.711000	0.98735	2.809000	0.96659	0.650000	0.86243	ACG		0.403	OPRK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378048.1			29	59	0	0	0	1	0	29	59					A	54147579	G	A	54147579	3	1	435	1	0	0	0	0	1	0	0	0	10885	1145	40	1	800	1	OPRK1	8	54147579	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	573860	54147579	92216443	4031	24956											
XKR4	114786	broad.mit.edu	37	chr8	56270427	56270427	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtacagactcatagcttacaGgccctccaaggtaagggctt	11	9	10	11	0	1	1	1	0	0	1	2	1	2	1	2	3	3	4	2	3	5	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:56270427G>T	ENST00000327381.6	+	2	1096	c.996G>T	c.(994-996)caG>caT	p.Q332H		NM_052898.1	NP_443130.1	Q5GH76	XKR4_HUMAN	XK, Kell blood group complex subunit-related family, member 4	332						integral component of membrane (GO:0016021)				NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34			Epithelial(17;0.000117)|all cancers(17;0.000836)			ATAGCTTACAGGCCCTCCAAG	0.478																																						ENST00000327381.5																			0				NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34						c.(994-996)caG>caT		XK, Kell blood group complex subunit-related family, member 4							86	76	79					8																	56270427		2203	4300	6503	SO:0001583	missense	114786					integral to membrane		g.chr8:56270427G>T	AY534241	CCDS34893.1	8q12.1	2006-01-12	2006-01-12		ENSG00000206579	ENSG00000206579			29394	protein-coding gene	gene with protein product			"X Kell blood group precursor-related family, member 4"				Standard	NM_052898		Approved	KIAA1889	uc003xsf.3	Q5GH76	OTTHUMG00000164288	ENST00000327381.6:c.996G>T	8.37:g.56270427G>T	ENSP00000328326:p.Gln332His						p.Q332H	NM_052898.1	NP_443130.1	Q5GH76	XKR4_HUMAN	Epithelial(17;0.000117)|all cancers(17;0.000836)		2	1096	+			332					Q96PZ8	Missense_Mutation	SNP	ENST00000327381.6	37	c.996G>T	CCDS34893.1	.	.	.	.	.	.	.	.	.	.	G	16.39	3.110972	0.56398	.	.	ENSG00000206579	ENST00000327381;ENST00000543752	T	0.63580	-0.05	5.96	5.96	0.96718	.	0.317119	0.35615	N	0.003093	T	0.58807	0.2148	N	0.14661	0.345	0.41963	D	0.990717	D	0.54397	0.966	P	0.55161	0.77	T	0.61446	-0.7061	10	0.46703	T	0.11	-20.0562	14.5536	0.68084	0.0693:0.0:0.9307:0.0	.	332	Q5GH76	XKR4_HUMAN	H	332	ENSP00000328326:Q332H	ENSP00000328326:Q332H	Q	+	3	2	XKR4	56432981	1.000000	0.71417	1.000000	0.80357	0.895000	0.52256	5.678000	0.68153	2.831000	0.97527	0.650000	0.86243	CAG		0.478	XKR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378129.2	NM_052898		13	16	1	0	4.3838e-07	1	4.58243e-07	13	16					T	56270427	G	T	56270427	3	4	435	1	0	0	0	0	1	0	0	0	17430	991	35	5	1002	5	XKR4	8	56270427	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	2122848	56270427	90093595	4032	24957											
LYN	4067	broad.mit.edu	37	chr8	56863270	56863270	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaggatataaccaggaaggaCgcagaaaggcagcttttggc	15	6	13	7	1	0	1	0	0	0	1	0	4	0	4	1	5	2	3	1	5	5	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:56863270C>T	ENST00000519728.1	+	6	710	c.414C>T	c.(412-414)gaC>gaT	p.D138D	LYN_ENST00000520220.2_Silent_p.D117D	NM_002350.3	NP_002341.1	P07948	LYN_HUMAN	LYN proto-oncogene, Src family tyrosine kinase	138	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				B cell homeostasis (GO:0001782)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to extracellular stimulus (GO:0031668)|cellular response to heat (GO:0034605)|cellular response to retinoic acid (GO:0071300)|cytokine secretion (GO:0050663)|dendritic cell differentiation (GO:0097028)|erythrocyte differentiation (GO:0030218)|Fc receptor mediated inhibitory signaling pathway (GO:0002774)|Fc receptor mediated stimulatory signaling pathway (GO:0002431)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|histamine secretion by mast cell (GO:0002553)|immune response-regulating cell surface receptor signaling pathway (GO:0002768)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|leukocyte migration (GO:0050900)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of cell proliferation (GO:0008285)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of immune response (GO:0050777)|negative regulation of intracellular signal transduction (GO:1902532)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of mast cell proliferation (GO:0070667)|negative regulation of myeloid leukocyte differentiation (GO:0002762)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of toll-like receptor 2 signaling pathway (GO:0034136)|negative regulation of toll-like receptor 4 signaling pathway (GO:0034144)|neuron projection development (GO:0031175)|oligodendrocyte development (GO:0014003)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of B cell receptor signaling pathway (GO:0050861)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cellular component movement (GO:0051272)|positive regulation of dendritic cell apoptotic process (GO:2000670)|positive regulation of Fc receptor mediated stimulatory signaling pathway (GO:0060369)|positive regulation of glial cell proliferation (GO:0060252)|positive regulation of mast cell proliferation (GO:0070668)|positive regulation of neuron projection development (GO:0010976)|positive regulation of oligodendrocyte progenitor proliferation (GO:0070447)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of stress-activated protein kinase signaling cascade (GO:0070304)|positive regulation of tyrosine phosphorylation of STAT protein (GO:0042531)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of B cell apoptotic process (GO:0002902)|regulation of B cell receptor signaling pathway (GO:0050855)|regulation of cell adhesion mediated by integrin (GO:0033628)|regulation of cytokine production (GO:0001817)|regulation of cytokine secretion (GO:0050707)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of erythrocyte differentiation (GO:0045646)|regulation of inflammatory response (GO:0050727)|regulation of mast cell activation (GO:0033003)|regulation of mast cell degranulation (GO:0043304)|regulation of monocyte chemotaxis (GO:0090025)|regulation of platelet aggregation (GO:0090330)|regulation of protein phosphorylation (GO:0001932)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|response to amino acid (GO:0043200)|response to axon injury (GO:0048678)|response to carbohydrate (GO:0009743)|response to drug (GO:0042493)|response to hormone (GO:0009725)|response to insulin (GO:0032868)|response to organic cyclic compound (GO:0014070)|response to sterol depletion (GO:0006991)|response to toxic substance (GO:0009636)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|T cell costimulation (GO:0031295)|tolerance induction to self antigen (GO:0002513)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integrin alpha2-beta1 complex (GO:0034666)|mast cell granule (GO:0042629)|membrane raft (GO:0045121)|mitochondrial crista (GO:0030061)|mitochondrial intermembrane space (GO:0005758)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|glycosphingolipid binding (GO:0043208)|ion channel binding (GO:0044325)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	22		all_lung(136;0.0555)|Lung NSC(129;0.0726)|all_epithelial(80;0.0772)	Epithelial(17;0.000834)|all cancers(17;0.00598)		Bosutinib(DB06616)|Ponatinib(DB08901)	CCAGGAAGGACGCAGAAAGGC	0.383																																						ENST00000520220.2																			0				breast(4)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	22						c.(349-351)gaC>gaT		v-yes-1 Yamaguchi sarcoma viral related oncogene homolog							105	113	110					8																	56863270		2203	4300	6503	SO:0001819	synonymous_variant	4067				erythrocyte differentiation|interspecies interaction between organisms|leukocyte migration|platelet activation|positive regulation of cellular component movement|positive regulation of stress-activated protein kinase signaling cascade|positive regulation of tyrosine phosphorylation of STAT protein|response to DNA damage stimulus|T cell costimulation	cytosol|Golgi apparatus|membrane raft|nucleus|perinuclear region of cytoplasm	ATP binding|ion channel binding|non-membrane spanning protein tyrosine kinase activity|receptor signaling protein tyrosine kinase activity	g.chr8:56863270C>T	M16038	CCDS6162.1, CCDS47859.1	8q13	2014-06-25	2014-06-25		ENSG00000254087	ENSG00000254087		"SH2 domain containing"	6735	protein-coding gene	gene with protein product		165120	"v-yes-1 Yamaguchi sarcoma viral related oncogene homolog"			3561390	Standard	NM_002350		Approved	JTK8	uc003xsk.4	P07948	OTTHUMG00000044345	ENST00000519728.1:c.414C>T	8.37:g.56863270C>T						LYN_ENST00000519728.1_Silent_p.D138D	p.D117D	NM_001111097.2	NP_001104567.1	P07948	LYN_HUMAN	Epithelial(17;0.000834)|all cancers(17;0.00598)		6	625	+		all_lung(136;0.0555)|Lung NSC(129;0.0726)|all_epithelial(80;0.0772)	138			SH3.		A0AVQ5	Silent	SNP	ENST00000519728.1	37	c.351C>T	CCDS6162.1																																																																																				0.383	LYN-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378155.1	NM_002350		27	36	0	0	0	1	0	27	36					T	56863270	C	T	56863270	2	4	435	1	0	0	0	0	0	0	0	1	9107	535	19	1		1	LYN	8	56863270	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	592843	56863270	89500752	4033	24958											
PENK	5179	broad.mit.edu	37	chr8	57354310	57354310	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atccattttcttcatgaagcCtccataccttttcatgaagc	10	15	4	12	0	3	2	2	2	1	0	5	2	5	2	4	0	3	0	4	0	3	6	rs544540811	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:57354310C>A	ENST00000314922.3	-	2	401	c.325G>T	c.(325-327)Ggc>Tgc	p.G109C	PENK_ENST00000523274.1_5'UTR|PENK_ENST00000451791.2_Missense_Mutation_p.G109C	NM_006211.3	NP_006202.1	P01210	PENK_HUMAN	proenkephalin	109					aggressive behavior (GO:0002118)|behavioral fear response (GO:0001662)|locomotory behavior (GO:0007626)|neuropeptide signaling pathway (GO:0007218)|sensory perception of pain (GO:0019233)|signal transduction (GO:0007165)|startle response (GO:0001964)	extracellular region (GO:0005576)	neuropeptide hormone activity (GO:0005184)			central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(1)|lung(5)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	21		all_lung(136;0.229)	Epithelial(17;0.000873)|all cancers(17;0.0069)			TTCATGAAGCCTCCATACCTT	0.488																																						ENST00000314922.3																			0				central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(1)|lung(5)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	21						c.(325-327)Ggc>Tgc		proenkephalin							112	103	106					8																	57354310		2203	4300	6503	SO:0001583	missense	5179				neuropeptide signaling pathway	extracellular region	neuropeptide hormone activity|opioid peptide activity	g.chr8:57354310C>A		CCDS6168.1	8q23-q24	2013-02-26				ENSG00000181195		"Endogenous ligands"	8831	protein-coding gene	gene with protein product	"preproenkephalin"	131330				6281660	Standard	NM_006211		Approved		uc003xsz.2	P01210		ENST00000314922.3:c.325G>T	8.37:g.57354310C>A	ENSP00000324248:p.Gly109Cys					PENK_ENST00000523274.1_5'UTR|PENK_ENST00000451791.2_Missense_Mutation_p.G109C	p.G109C	NM_006211.3	NP_006202.1	P01210	PENK_HUMAN	Epithelial(17;0.000873)|all cancers(17;0.0069)		2	401	-		all_lung(136;0.229)	109					B2RC23|Q6FHC6|Q6FHE6	Missense_Mutation	SNP	ENST00000314922.3	37	c.325G>T	CCDS6168.1	.	.	.	.	.	.	.	.	.	.	C	27.1	4.797706	0.90538	.	.	ENSG00000181195	ENST00000539312;ENST00000314922;ENST00000451791	T;T	0.19806	2.12;2.12	5.98	5.98	0.97165	.	0.000000	0.85682	D	0.000000	T	0.53334	0.1790	M	0.83852	2.665	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.55373	-0.8151	10	0.87932	D	0	-26.8584	19.4315	0.94772	0.0:1.0:0.0:0.0	.	109	P01210	PENK_HUMAN	C	109	ENSP00000324248:G109C;ENSP00000400894:G109C	ENSP00000324248:G109C	G	-	1	0	PENK	57516864	1.000000	0.71417	0.997000	0.53966	0.990000	0.78478	7.061000	0.76699	2.838000	0.97847	0.655000	0.94253	GGC		0.488	PENK-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378645.1			34	71	1	0	6.50621e-10	1	6.9326e-10	34	71					A	57354310	C	A	57354310	3	1	435	1	0	0	0	0	1	0	0	0	11727	681	24	5	482	5	PENK	8	57354310	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	491040	57354310	89009712	4034	24959											
NSMAF	8439	broad.mit.edu	37	chr8	59544078	59544078	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttctattttatatggtgcaaCaacattatgttctttaatga	12	19	5	5	0	2	1	0	1	2	0	2	1	2	1	0	1	3	2	0	1	7	9			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:59544078C>T	ENST00000038176.3	-	6	573	c.361G>A	c.(361-363)Gtt>Att	p.V121I	NSMAF_ENST00000427130.2_Missense_Mutation_p.V152I	NM_003580.3	NP_003571.2	Q92636	FAN_HUMAN	neutral sphingomyelinase (N-SMase) activation associated factor	121					ceramide metabolic process (GO:0006672)|intracellular signal transduction (GO:0035556)|positive regulation of apoptotic process (GO:0043065)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	receptor signaling protein activity (GO:0005057)|sphingomyelin phosphodiesterase activator activity (GO:0016230)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	38		all_lung(136;0.174)|Lung NSC(129;0.2)				TATGGTGCAACAACATTATGT	0.259																																						ENST00000038176.3																			0				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	38						c.(361-363)Gtt>Att		neutral sphingomyelinase (N-SMase) activation associated factor							48	51	50					8																	59544078		2181	4263	6444	SO:0001583	missense	8439				ceramide metabolic process	cytoplasm|soluble fraction	protein binding|receptor signaling protein activity	g.chr8:59544078C>T	X96586	CCDS6173.1, CCDS47864.1	8q12-q13	2013-01-10			ENSG00000035681	ENSG00000035681		"WD repeat domain containing"	8017	protein-coding gene	gene with protein product		603043				8808629, 10640829	Standard	NM_003580		Approved	FAN	uc011lee.2	Q92636	OTTHUMG00000164352	ENST00000038176.3:c.361G>A	8.37:g.59544078C>T	ENSP00000038176:p.Val121Ile					NSMAF_ENST00000427130.2_Missense_Mutation_p.V152I	p.V121I	NM_003580.3	NP_003571.2	Q92636	FAN_HUMAN			6	573	-		all_lung(136;0.174)|Lung NSC(129;0.2)	121					B4DFB0|E9PCH0|Q8IW26	Missense_Mutation	SNP	ENST00000038176.3	37	c.361G>A	CCDS6173.1	.	.	.	.	.	.	.	.	.	.	C	13.15	2.150951	0.38021	.	.	ENSG00000035681	ENST00000038176;ENST00000427130	T;T	0.53423	0.62;0.62	5.16	4.27	0.50696	.	0.171809	0.52532	N	0.000068	T	0.30324	0.0761	N	0.20986	0.625	0.32281	N	0.567585	B;B;B	0.16802	0.011;0.009;0.019	B;B;B	0.14023	0.01;0.006;0.008	T	0.30880	-0.9963	9	.	.	.	.	9.2007	0.37256	0.0:0.7856:0.0:0.2144	.	152;121;121	Q92636-2;A8K9G4;Q92636	.;.;FAN_HUMAN	I	121;152	ENSP00000038176:V121I;ENSP00000411012:V152I	.	V	-	1	0	NSMAF	59706632	1.000000	0.71417	0.999000	0.59377	0.931000	0.56810	1.967000	0.40491	1.290000	0.44636	0.591000	0.81541	GTT		0.259	NSMAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378384.1	NM_003580		7	13	0	0	0	1	0	7	13					T	59544078	C	T	59544078	3	4	435	1	0	0	0	0	1	0	0	0	10674	478	17	3	2496	3	NSMAF	8	59544078	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	2189768	59544078	86819944	4035	24960											
CA8	767	broad.mit.edu	37	chr8	61178597	61178597	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atgcccttgaggcaatggtcCtcccgaaagaactgaaaaag	14	7	10	10	1	0	3	0	2	0	1	2	4	2	3	3	2	2	1	3	2	5	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:61178597C>A	ENST00000317995.4	-	3	568	c.304G>T	c.(304-306)Gga>Tga	p.G102*		NM_004056.4	NP_004047.3	P35219	CAH8_HUMAN	carbonic anhydrase VIII	102					one-carbon metabolic process (GO:0006730)|phosphatidylinositol-mediated signaling (GO:0048015)	cytoplasm (GO:0005737)	carbonate dehydratase activity (GO:0004089)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(5)|lung(6)|prostate(2)|skin(1)	16		all_cancers(86;0.172)|all_epithelial(80;0.0383)|all_lung(136;0.0413)|Lung NSC(129;0.0474)			Zonisamide(DB00909)	GGCAATGGTCCTCCCGAAAGA	0.383																																						ENST00000317995.4																			0				endometrium(2)|large_intestine(5)|lung(6)|prostate(2)|skin(1)	16						c.(304-306)Gga>Tga		carbonic anhydrase VIII							63	60	61					8																	61178597		2203	4300	6503	SO:0001587	stop_gained	767				one-carbon metabolic process		carbonate dehydratase activity|zinc ion binding	g.chr8:61178597C>A	L04656	CCDS6174.1	8q12.1	2012-08-21			ENSG00000178538	ENSG00000178538		"Carbonic anhydrases"	1382	protein-coding gene	gene with protein product		114815		CALS		17219437	Standard	NM_004056		Approved	CARP	uc003xtz.1	P35219	OTTHUMG00000165325	ENST00000317995.4:c.304G>T	8.37:g.61178597C>A	ENSP00000314407:p.Gly102*						p.G102*	NM_004056.4	NP_004047.3	P35219	CAH8_HUMAN			3	568	-		all_cancers(86;0.172)|all_epithelial(80;0.0383)|all_lung(136;0.0413)|Lung NSC(129;0.0474)	102					A8K0A5|B3KQZ7|Q32MY2	Nonsense_Mutation	SNP	ENST00000317995.4	37	c.304G>T	CCDS6174.1	.	.	.	.	.	.	.	.	.	.	C	39	7.546338	0.98352	.	.	ENSG00000178538	ENST00000317995	.	.	.	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	19.5923	0.95520	0.0:1.0:0.0:0.0	.	.	.	.	X	102	.	ENSP00000314407:G102X	G	-	1	0	CA8	61341151	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	7.818000	0.86416	2.644000	0.89710	0.557000	0.71058	GGA		0.383	CA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383445.1			12	31	1	0	2.80697e-09	1	2.97546e-09	12	31					A	61178597	C	A	61178597	4	1	435	1	0	0	0	0	0	1	0	0	2523	690	24	5	592	5	CA8	8	61178597	Nonsense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	1634519	61178597	85185425	4036	24961											
ASPH	444	broad.mit.edu	37	chr8	62430187	62430187	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggccctgtgtgcggccacaCgtgagtcccggggtgcatga	5	7	17	12	3	0	2	0	2	0	0	1	2	1	2	3	4	2	1	3	4	0	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:62430187C>T	ENST00000379454.4	-	24	2213	c.2026G>A	c.(2026-2028)Gtg>Atg	p.V676M	ASPH_ENST00000541428.1_Missense_Mutation_p.V647M	NM_004318.3	NP_004309.2	Q12797	ASPH_HUMAN	aspartate beta-hydroxylase	676					activation of cysteine-type endopeptidase activity (GO:0097202)|activation of store-operated calcium channel activity (GO:0032237)|calcium ion transmembrane transport (GO:0070588)|cellular response to calcium ion (GO:0071277)|detection of calcium ion (GO:0005513)|face morphogenesis (GO:0060325)|limb morphogenesis (GO:0035108)|muscle contraction (GO:0006936)|negative regulation of cell proliferation (GO:0008285)|palate development (GO:0060021)|pattern specification process (GO:0007389)|peptidyl-aspartic acid hydroxylation (GO:0042264)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of proteolysis (GO:0045862)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cell communication by electrical coupling (GO:0010649)|regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031585)|regulation of protein depolymerization (GO:1901879)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|response to ATP (GO:0033198)	calcium channel complex (GO:0034704)|cortical endoplasmic reticulum (GO:0032541)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum lumen (GO:0033018)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|electron carrier activity (GO:0009055)|ion channel binding (GO:0044325)|peptide-aspartate beta-dioxygenase activity (GO:0004597)|structural constituent of muscle (GO:0008307)|structural molecule activity (GO:0005198)			breast(1)|cervix(1)|endometrium(5)|large_intestine(5)|lung(16)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35	Lung SC(2;0.153)	Lung NSC(129;0.0358)|all_lung(136;0.0654)|all_epithelial(80;0.101)			L-Aspartic Acid(DB00128)|Succinic acid(DB00139)	TGCGGCCACACGTGAGTCCCG	0.512																																						ENST00000541428.1																			0				breast(1)|cervix(1)|endometrium(5)|large_intestine(5)|lung(16)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						c.(1939-1941)Gtg>Atg		aspartate beta-hydroxylase	L-Aspartic Acid(DB00128)|Succinic acid(DB00139)						114	101	106					8																	62430187		2203	4300	6503	SO:0001583	missense	444				muscle contraction	integral to endoplasmic reticulum membrane	calcium ion binding|electron carrier activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptide-aspartate beta-dioxygenase activity|structural constituent of muscle	g.chr8:62430187C>T	AF224468	CCDS34898.1, CCDS34899.1, CCDS34900.1, CCDS43742.1, CCDS47866.1, CCDS55234.1, CCDS55235.1, CCDS55236.1, CCDS55237.1, CCDS55238.1, CCDS75746.1	8q12.1	2008-02-05			ENSG00000198363	ENSG00000198363	1.14.11.16		757	protein-coding gene	gene with protein product	"junctin", "humbug", "junctate"	600582				7821814, 10974562	Standard	NM_004318		Approved	CASQ2BP1, BAH, JCTN, HAAH	uc003xuj.3	Q12797	OTTHUMG00000164375	ENST00000379454.4:c.2026G>A	8.37:g.62430187C>T	ENSP00000368767:p.Val676Met					ASPH_ENST00000379454.4_Missense_Mutation_p.V676M	p.V647M	NM_001164750.1	NP_001158222.1	Q12797	ASPH_HUMAN			24	2099	-	Lung SC(2;0.153)	Lung NSC(129;0.0358)|all_lung(136;0.0654)|all_epithelial(80;0.101)	676					A6NDF4|A6NHI2|B4DIC9|B4E2K4|B7ZM95|E5RGP5|F5H667|Q6NXR7|Q8TB28|Q9H291|Q9H2C4|Q9NRI0|Q9NRI1|Q9Y4J0	Missense_Mutation	SNP	ENST00000379454.4	37	c.1939G>A	CCDS34898.1	.	.	.	.	.	.	.	.	.	.	C	32	5.192045	0.94923	.	.	ENSG00000198363	ENST00000541428;ENST00000379454	T;T	0.51817	0.69;0.69	5.96	5.96	0.96718	.	0.000000	0.85682	D	0.000000	T	0.75376	0.3841	M	0.87381	2.88	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.992;0.999	T	0.78127	-0.2325	10	0.87932	D	0	-18.9395	20.4192	0.99033	0.0:1.0:0.0:0.0	.	647;676	F5H667;Q12797	.;ASPH_HUMAN	M	647;676	ENSP00000437864:V647M;ENSP00000368767:V676M	ENSP00000368767:V676M	V	-	1	0	ASPH	62592741	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.378000	0.79679	2.831000	0.97527	0.650000	0.86243	GTG		0.512	ASPH-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000378510.3	NM_004318		21	42	0	0	0	1	0	21	42					T	62430187	C	T	62430187	3	4	435	1	0	0	0	0	1	0	0	0	1053	536	19	1	258	1	ASPH	8	62430187	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	1251590	62430187	83933835	4037	24962											
NKAIN3	286183	broad.mit.edu	37	chr8	63492147	63492147	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttccttggtttccagtgggCgcctattcttggaaattttc	5	17	9	10	1	1	0	0	0	1	0	4	1	3	1	3	3	0	1	3	3	2	8			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:63492147C>T	ENST00000523211.1	+	2	236	c.104C>T	c.(103-105)gCg>gTg	p.A35V	NKAIN3_ENST00000519049.1_3'UTR|NKAIN3_ENST00000328472.5_Missense_Mutation_p.A35V	NM_173688.2	NP_775959.1	Q8N8D7	NKAI3_HUMAN	Na+/K+ transporting ATPase interacting 3	35						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.A35G(1)		kidney(3)|large_intestine(2)|lung(8)	13	Breast(64;0.127)	Lung NSC(129;0.187)				TTCCAGTGGGCGCCTATTCTT	0.383																																						ENST00000523211.1																			1	Substitution - Missense(1)	p.A35G(1)	kidney(1)	kidney(3)|large_intestine(2)|lung(8)	13						c.(103-105)gCg>gTg		Na+/K+ transporting ATPase interacting 3							174	169	170					8																	63492147		1839	4089	5928	SO:0001583	missense	286183					integral to membrane|plasma membrane		g.chr8:63492147C>T	AK096949	CCDS55239.1	8q12.3	2014-08-12	2007-10-04	2007-10-04	ENSG00000185942	ENSG00000185942		"Na+/K+ transporting ATPase interacting"	26829	protein-coding gene	gene with protein product		612872	"family with sequence similarity 77, member D"	FAM77D		17606467	Standard	NM_173688		Approved	FLJ39630	uc010lyq.1	Q8N8D7	OTTHUMG00000164361	ENST00000523211.1:c.104C>T	8.37:g.63492147C>T	ENSP00000429073:p.Ala35Val					NKAIN3_ENST00000328472.5_Missense_Mutation_p.A35V|NKAIN3_ENST00000519049.1_3'UTR	p.A35V	NM_173688.2	NP_775959.1	Q8N8D7	NKAI3_HUMAN			2	236	+	Breast(64;0.127)	Lung NSC(129;0.187)	35						Missense_Mutation	SNP	ENST00000523211.1	37	c.104C>T	CCDS55239.1	.	.	.	.	.	.	.	.	.	.	C	16.46	3.129585	0.56721	.	.	ENSG00000185942	ENST00000545532;ENST00000523211;ENST00000524201;ENST00000328472	T;T;T	0.18338	2.22;2.22;2.22	6.01	4.21	0.49690	.	0.000000	0.64402	D	0.000001	T	0.41328	0.1154	M	0.81942	2.565	0.58432	D	0.999995	D	0.89917	1.0	D	0.70935	0.971	T	0.32052	-0.9921	10	0.62326	D	0.03	-23.7165	11.3653	0.49668	0.0:0.8055:0.1266:0.0679	.	35	Q8N8D7	NKAI3_HUMAN	V	35	ENSP00000429073:A35V;ENSP00000429393:A35V;ENSP00000333627:A35V	ENSP00000333627:A35V	A	+	2	0	NKAIN3	63654701	1.000000	0.71417	0.737000	0.30932	0.014000	0.08584	7.805000	0.86005	0.870000	0.35726	-0.181000	0.13052	GCG		0.383	NKAIN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378447.2	NM_173688		6	64	0	0	0	1	0	6	64					T	63492147	C	T	63492147	3	4	435	1	0	0	0	0	1	0	0	0	10437	768	27	1	110	1	NKAIN3	8	63492147	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	1061960	63492147	82871875	4038	24963											
SGK3	23678	broad.mit.edu	37	chr8	67759502	67759502	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccctaagtttgaggccaggAgtgagtcttacagcctggtc	8	10	12	11	0	1	2	0	2	1	0	2	3	1	3	4	3	2	1	4	3	2	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:67759502A>G	ENST00000396596.1	+	15	1363	c.1149A>G	c.(1147-1149)ggA>ggG	p.G383G	SGK3_ENST00000520976.1_Silent_p.G351G|SGK3_ENST00000521198.2_Silent_p.G383G|SGK3_ENST00000522398.1_Silent_p.G383G|C8orf44-SGK3_ENST00000519289.1_Silent_p.G383G|SGK3_ENST00000345714.4_Silent_p.G383G	NM_013257.4	NP_037389.4	Q96BR1	SGK3_HUMAN	serum/glucocorticoid regulated kinase family, member 3	383	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				ion transmembrane transport (GO:0034220)|protein phosphorylation (GO:0006468)|regulation of cell growth (GO:0001558)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|response to stress (GO:0006950)|transmembrane transport (GO:0055085)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endosome (GO:0005768)	ATP binding (GO:0005524)|calcium channel regulator activity (GO:0005246)|chloride channel regulator activity (GO:0017081)|phosphatidylinositol binding (GO:0035091)|potassium channel regulator activity (GO:0015459)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|sodium channel regulator activity (GO:0017080)			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	18	Breast(64;0.186)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0046)|OV - Ovarian serous cystadenocarcinoma(28;0.0112)|all cancers(69;0.0141)|BRCA - Breast invasive adenocarcinoma(89;0.206)			TGAGGCCAGGAGTGAGTCTTA	0.398																																						ENST00000396596.1																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	18						c.(1147-1149)ggA>ggG		serum/glucocorticoid regulated kinase family, member 3							99	98	98					8																	67759502		2203	4300	6503	SO:0001819	synonymous_variant	23678				cell communication|response to stress	cytoplasmic membrane-bounded vesicle|early endosome	ATP binding|phosphatidylinositol binding|protein serine/threonine kinase activity	g.chr8:67759502A>G		CCDS6195.1, CCDS6196.1	8q12	2008-07-28	2005-09-13	2005-09-13		ENSG00000104205			10812	protein-coding gene	gene with protein product		607591	"serum/glucocorticoid regulated kinase-like"	SGK2, SGKL		10585774, 10548550	Standard	NM_013257		Approved		uc003xwr.3	Q96BR1		ENST00000396596.1:c.1149A>G	8.37:g.67759502A>G						SGK3_ENST00000521198.2_Silent_p.G383G|SGK3_ENST00000345714.4_Silent_p.G383G|SGK3_ENST00000522398.1_Silent_p.G383G|SGK3_ENST00000520976.1_Silent_p.G351G|C8orf44-SGK3_ENST00000519289.1_Silent_p.G383G	p.G383G	NM_013257.4	NP_037389.4	Q96BR1	SGK3_HUMAN	Epithelial(68;0.0046)|OV - Ovarian serous cystadenocarcinoma(28;0.0112)|all cancers(69;0.0141)|BRCA - Breast invasive adenocarcinoma(89;0.206)		15	1363	+	Breast(64;0.186)	Lung NSC(129;0.0908)|all_lung(136;0.152)	383			Protein kinase.		A8K5W3|B3KQC2|Q9P1Q7|Q9UKG5	Silent	SNP	ENST00000396596.1	37	c.1149A>G	CCDS6195.1																																																																																				0.398	SGK3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379232.3			43	58	0	0	0	1	0	43	58					G	67759502	A	G	67759502	2	3	435	1	0	0	0	0	0	0	0	1	14212	291	11	4		4	SGK3	8	67759502	Silent	SNP	A	TCGA-XK-AAIW-01A-11D-A41K-08	4267355	67759502	78604520	4039	24964											
C8orf45	157777	broad.mit.edu	37	chr8	67796214	67796214	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tttaattataacaagtgataCtctactcatagacaggtata	16	14	5	6	0	2	2	1	1	1	1	2	2	2	2	0	1	3	1	0	1	9	9			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:67796214C>T	ENST00000422365.2	+	9	1229	c.1058C>T	c.(1057-1059)aCt>aTt	p.T353I	MCMDC2_ENST00000541540.1_Missense_Mutation_p.T290I|MCMDC2_ENST00000492775.1_Missense_Mutation_p.T353I|MCMDC2_ENST00000396592.3_Missense_Mutation_p.T353I|MCMDC2_ENST00000313616.5_Missense_Mutation_p.T353I	NM_173518.4	NP_775789.3	Q4G0Z9	MCMD2_HUMAN	minichromosome maintenance domain containing 2	353					DNA replication (GO:0006260)		ATP binding (GO:0005524)|DNA binding (GO:0003677)			endometrium(2)|kidney(2)|lung(5)	9						ACAAGTGATACTCTACTCATA	0.333																																						ENST00000422365.2																			0				endometrium(2)|kidney(2)|lung(5)	9						c.(1057-1059)aCt>aTt		minichromosome maintenance domain containing 2							46	47	47					8																	67796214		2203	4300	6503	SO:0001583	missense	157777				DNA replication		ATP binding|DNA binding	g.chr8:67796214C>T	BC034576	CCDS6197.2, CCDS47868.1, CCDS47869.1	8q13.1	2012-04-13	2012-04-13	2012-04-13	ENSG00000178460	ENSG00000178460			26368	protein-coding gene	gene with protein product			"chromosome 8 open reading frame 45"	C8orf45			Standard	NM_173518		Approved	FLJ25692	uc003xwz.4	Q4G0Z9	OTTHUMG00000157068	ENST00000422365.2:c.1058C>T	8.37:g.67796214C>T	ENSP00000413632:p.Thr353Ile					MCMDC2_ENST00000396592.3_Missense_Mutation_p.T353I|MCMDC2_ENST00000492775.1_Missense_Mutation_p.T353I|MCMDC2_ENST00000541540.1_Missense_Mutation_p.T290I|MCMDC2_ENST00000313616.5_Missense_Mutation_p.T353I	p.T353I	NM_173518.4	NP_775789.3	Q4G0Z9	CH045_HUMAN			9	1229	+			353					B4DYZ3|B4DZM4|B4E293|Q6P533|Q7Z3P4	Missense_Mutation	SNP	ENST00000422365.2	37	c.1058C>T	CCDS6197.2	.	.	.	.	.	.	.	.	.	.	C	16.71	3.197471	0.58126	.	.	ENSG00000178460	ENST00000379356;ENST00000396592;ENST00000422365;ENST00000492775;ENST00000313616;ENST00000541540	T;T;T;T;T	0.34072	1.38;1.38;1.38;1.38;1.38	5.46	2.43	0.29744	.	0.267755	0.41938	D	0.000800	T	0.32971	0.0847	L	0.58101	1.795	0.42524	D	0.993014	B;B;B;B	0.10296	0.003;0.002;0.002;0.003	B;B;B;B	0.11329	0.006;0.003;0.003;0.006	T	0.25152	-1.0140	10	0.87932	D	0	-6.145	9.3201	0.37959	0.2562:0.6756:0.0:0.0682	.	290;353;353;353	Q4G0Z9-4;Q4G0Z9;B4DXX4;G3XAN3	.;CH045_HUMAN;.;.	I	225;353;353;353;353;290	ENSP00000379837:T353I;ENSP00000413632:T353I;ENSP00000428037:T353I;ENSP00000317234:T353I;ENSP00000445629:T290I	ENSP00000317234:T353I	T	+	2	0	C8orf45	67958768	0.978000	0.34361	0.999000	0.59377	0.687000	0.40016	1.969000	0.40510	0.751000	0.32900	0.655000	0.94253	ACT		0.333	MCMDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347350.1	NM_173518		17	33	0	0	0	1	0	17	33					T	67796214	C	T	67796214	3	4	435	1	0	0	0	0	1	0	0	0	2430	565	20	3	1088	3	C8orf45	8	67796214	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	36712	67796214	78567808	4040	24965											
C8orf45	157777	broad.mit.edu	37	chr8	67803125	67803125	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaattttagcataaaccttGtcccccgtggtatacgtcat	10	14	7	10	2	1	1	1	1	0	0	2	1	2	1	3	1	3	2	3	1	6	6			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:67803125G>A	ENST00000422365.2	+	10	1270	c.1099G>A	c.(1099-1101)Gtc>Atc	p.V367I	MCMDC2_ENST00000541540.1_Missense_Mutation_p.V304I|MCMDC2_ENST00000396592.3_Missense_Mutation_p.V367I|MCMDC2_ENST00000313616.5_Missense_Mutation_p.V367I	NM_173518.4	NP_775789.3	Q4G0Z9	MCMD2_HUMAN	minichromosome maintenance domain containing 2	367					DNA replication (GO:0006260)		ATP binding (GO:0005524)|DNA binding (GO:0003677)			endometrium(2)|kidney(2)|lung(5)	9						CATAAACCTTGTCCCCCGTGG	0.338																																						ENST00000422365.2																			0				endometrium(2)|kidney(2)|lung(5)	9						c.(1099-1101)Gtc>Atc		minichromosome maintenance domain containing 2							103	105	104					8																	67803125		2203	4300	6503	SO:0001583	missense	157777				DNA replication		ATP binding|DNA binding	g.chr8:67803125G>A	BC034576	CCDS6197.2, CCDS47868.1, CCDS47869.1	8q13.1	2012-04-13	2012-04-13	2012-04-13	ENSG00000178460	ENSG00000178460			26368	protein-coding gene	gene with protein product			"chromosome 8 open reading frame 45"	C8orf45			Standard	NM_173518		Approved	FLJ25692	uc003xwz.4	Q4G0Z9	OTTHUMG00000157068	ENST00000422365.2:c.1099G>A	8.37:g.67803125G>A	ENSP00000413632:p.Val367Ile					MCMDC2_ENST00000396592.3_Missense_Mutation_p.V367I|MCMDC2_ENST00000541540.1_Missense_Mutation_p.V304I|MCMDC2_ENST00000313616.5_Missense_Mutation_p.V367I	p.V367I	NM_173518.4	NP_775789.3	Q4G0Z9	CH045_HUMAN			10	1270	+			367					B4DYZ3|B4DZM4|B4E293|Q6P533|Q7Z3P4	Missense_Mutation	SNP	ENST00000422365.2	37	c.1099G>A	CCDS6197.2	.	.	.	.	.	.	.	.	.	.	G	5.011	0.187657	0.09547	.	.	ENSG00000178460	ENST00000379356;ENST00000396592;ENST00000422365;ENST00000313616;ENST00000541540	T;T;T;T	0.31769	1.48;1.48;1.48;1.48	4.84	3.05	0.35203	.	0.197161	0.42964	D	0.000635	T	0.24967	0.0606	L	0.47716	1.5	0.29459	N	0.857883	B;B;B	0.12630	0.001;0.006;0.006	B;B;B	0.12156	0.006;0.005;0.007	T	0.15065	-1.0450	10	0.48119	T	0.1	-6.6102	7.9898	0.30233	0.1545:0.1408:0.7047:0.0	.	304;367;367	Q4G0Z9-4;Q4G0Z9;B4DXX4	.;CH045_HUMAN;.	I	239;367;367;367;304	ENSP00000379837:V367I;ENSP00000413632:V367I;ENSP00000317234:V367I;ENSP00000445629:V304I	ENSP00000317234:V367I	V	+	1	0	C8orf45	67965679	1.000000	0.71417	0.972000	0.41901	0.102000	0.19082	2.433000	0.44793	0.573000	0.29400	-0.218000	0.12543	GTC		0.338	MCMDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347350.1	NM_173518		18	80	0	0	0	1	0	18	80					A	67803125	G	A	67803125	3	1	435	1	0	0	0	0	1	0	0	0	2430	1377	48	3	1133	3	C8orf45	8	67803125	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	6911	67803125	78560897	4041	24966											
CSPP1	79848	broad.mit.edu	37	chr8	68074057	68074057	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atttttcagcacatgagacaGccttctcctatagttcctgc	9	14	6	12	0	2	1	1	1	1	1	4	2	3	1	3	0	3	2	3	0	2	6			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:68074057G>A	ENST00000262210.5	+	20	2566	c.2535G>A	c.(2533-2535)caG>caA	p.Q845Q	CSPP1_ENST00000521168.1_3'UTR|CSPP1_ENST00000412460.1_Silent_p.Q500Q	NM_024790.6	NP_079066.5	Q1MSJ5	CSPP1_HUMAN	centrosome and spindle pole associated protein 1	880	Glu-rich.				positive regulation of cell division (GO:0051781)|positive regulation of cytokinesis (GO:0032467)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|spindle (GO:0005819)|spindle pole (GO:0000922)				NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|prostate(3)|skin(1)|urinary_tract(1)	49	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.00145)|OV - Ovarian serous cystadenocarcinoma(28;0.00589)|all cancers(69;0.0069)|BRCA - Breast invasive adenocarcinoma(89;0.153)			ACATGAGACAGCCTTCTCCTA	0.363																																						ENST00000262210.5																			0				NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|prostate(3)|skin(1)|urinary_tract(1)	49						c.(2533-2535)caG>caA		centrosome and spindle pole associated protein 1							159	153	155					8																	68074057		1860	4109	5969	SO:0001819	synonymous_variant	79848					centrosome|microtubule|spindle		g.chr8:68074057G>A	AJ583433	CCDS43744.1	8q13.2	2014-02-24			ENSG00000104218	ENSG00000104218			26193	protein-coding gene	gene with protein product		611654				15580290, 24360807	Standard	NM_024790		Approved	FLJ22490, CSPP, JBTS21	uc003xxj.3	Q1MSJ5	OTTHUMG00000164564	ENST00000262210.5:c.2535G>A	8.37:g.68074057G>A						CSPP1_ENST00000412460.1_Silent_p.Q500Q|CSPP1_ENST00000521168.1_3'UTR	p.Q845Q	NM_024790.6	NP_079066.5	Q1MSJ5	CSPP1_HUMAN	Epithelial(68;0.00145)|OV - Ovarian serous cystadenocarcinoma(28;0.00589)|all cancers(69;0.0069)|BRCA - Breast invasive adenocarcinoma(89;0.153)		20	2566	+	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	880			Glu-rich.		A6ND63|Q70F00|Q8TBC1	Silent	SNP	ENST00000262210.5	37	c.2535G>A	CCDS43744.1																																																																																				0.363	CSPP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379254.1	NM_024790		8	84	0	0	0	1	0	8	84					A	68074057	G	A	68074057	2	1	435	1	0	0	0	0	0	0	0	1	3962	962	34	3		3	CSPP1	8	68074057	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	270932	68074057	78289965	4042	24967											
CSPP1	10565	broad.mit.edu	37	chr8	68107673	68107673	+	IGR	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgaaacacataggggatgacGgatcaaactctgtagcaact	15	8	10	8	1	2	2	1	2	1	0	2	4	2	4	0	3	4	2	0	3	5	2	rs200079718		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:68107673G>A	ENST00000262215.3	-	0	7225				CSPP1_ENST00000521168.1_3'UTR|CSPP1_ENST00000262210.5_Missense_Mutation_p.G1171R|ARFGEF1_ENST00000517955.1_5'Flank|CSPP1_ENST00000412460.1_Missense_Mutation_p.G826R|ARFGEF1_ENST00000520381.1_Intron	NM_006421.4	NP_006412.2	Q9Y6D6	BIG1_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited)						endomembrane system organization (GO:0010256)|exocytosis (GO:0006887)|Golgi organization (GO:0007030)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of Rho GTPase activity (GO:0034259)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein glycosylation in Golgi (GO:0090284)|positive regulation of wound healing (GO:0090303)|protein transport (GO:0015031)|regulation of ARF protein signal transduction (GO:0032012)|regulation of establishment of cell polarity (GO:2000114)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|small nuclear ribonucleoprotein complex (GO:0030532)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|guanyl-nucleotide exchange factor activity (GO:0005085)|myosin binding (GO:0017022)|protein kinase A regulatory subunit binding (GO:0034237)	p.G1171*(1)		breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)			AGGGGATGACGGATCAAACTC	0.532																																						ENST00000262210.5																			1	Substitution - Nonsense(1)	p.G1171*(1)	lung(1)	NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|prostate(3)|skin(1)|urinary_tract(1)	49						c.(3511-3513)Gga>Aga		centrosome and spindle pole associated protein 1							219	213	215					8																	68107673		2070	4211	6281	SO:0001628	intergenic_variant	79848					centrosome|microtubule|spindle		g.chr8:68107673G>A	AF084520	CCDS6199.1	8q13	2011-08-18	2011-08-18		ENSG00000066777	ENSG00000066777			15772	protein-coding gene	gene with protein product		604141				10212200, 8917509	Standard	NM_006421		Approved	DKFZP434L057, BIG1, ARFGEP1, p200	uc003xxo.2	Q9Y6D6	OTTHUMG00000164626		8.37:g.68107673G>A						CSPP1_ENST00000412460.1_Missense_Mutation_p.G826R|ARFGEF1_ENST00000520381.1_Intron|CSPP1_ENST00000521168.1_3'UTR	p.G1171R	NM_024790.6	NP_079066.5	Q1MSJ5	CSPP1_HUMAN	Epithelial(68;0.00145)|OV - Ovarian serous cystadenocarcinoma(28;0.00589)|all cancers(69;0.0069)|BRCA - Breast invasive adenocarcinoma(89;0.153)		29	3542	+	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	1206					Q9NV46|Q9UFV2|Q9UNL0	Missense_Mutation	SNP	ENST00000262215.3	37	c.3511G>A	CCDS6199.1	.	.	.	.	.	.	.	.	.	.	G	8.175	0.792538	0.16258	.	.	ENSG00000104218	ENST00000262210;ENST00000389042;ENST00000412460;ENST00000519668	T;T;T	0.30981	1.51;1.53;1.53	5.27	0.885	0.19188	.	0.346678	0.27677	N	0.018311	T	0.14098	0.0341	N	0.10874	0.06	0.45295	D	0.998293	B;B;B	0.16802	0.019;0.011;0.011	B;B;B	0.15870	0.014;0.007;0.007	T	0.06058	-1.0848	10	0.46703	T	0.11	-7.9931	6.8778	0.24156	0.5645:0.0:0.4355:0.0	.	826;1171;1206	Q1MSJ5-2;Q1MSJ5-1;Q1MSJ5	.;.;CSPP1_HUMAN	R	1171;1206;826;826	ENSP00000262210:G1171R;ENSP00000415782:G826R;ENSP00000430092:G826R	ENSP00000262210:G1171R	G	+	1	0	CSPP1	68270227	0.607000	0.26958	0.112000	0.21494	0.177000	0.22998	0.873000	0.28052	0.326000	0.23384	0.650000	0.86243	GGA		0.532	ARFGEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379441.4	NM_006421		71	105	0	0	0	1	0	71	105					A	68107673	G	A	68107673	1	1	435	0	1	0	0	0	0	0	0	0	3962	1117	39	2		2	CSPP1	8	68107673	IGR	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	33616	68107673	78256349	4043	24968											
SULF1	23213	broad.mit.edu	37	chr8	70476261	70476261	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gctgtcctgggcacagaattGctgggaagcctctgttcgac	7	10	13	11	1	1	1	0	0	1	1	3	3	2	2	2	2	2	4	2	2	2	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:70476261G>A	ENST00000260128.4	+	5	768	c.51G>A	c.(49-51)ttG>ttA	p.L17L	SULF1_ENST00000402687.4_Silent_p.L17L|SULF1_ENST00000419716.3_Silent_p.L17L|SULF1_ENST00000458141.2_Silent_p.L17L	NM_015170.2	NP_055985.2	Q8IWU6	SULF1_HUMAN	sulfatase 1	17					apoptotic process (GO:0006915)|bone development (GO:0060348)|cartilage development (GO:0051216)|chondrocyte development (GO:0002063)|embryonic skeletal system development (GO:0048706)|esophagus smooth muscle contraction (GO:0014846)|glial cell-derived neurotrophic factor receptor signaling pathway (GO:0035860)|glomerular basement membrane development (GO:0032836)|glomerular filtration (GO:0003094)|heparan sulfate proteoglycan metabolic process (GO:0030201)|innervation (GO:0060384)|kidney development (GO:0001822)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell migration (GO:0030336)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|negative regulation of prostatic bud formation (GO:0060686)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of Wnt signaling pathway (GO:0030177)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	arylsulfatase activity (GO:0004065)|calcium ion binding (GO:0005509)|N-acetylglucosamine-6-sulfatase activity (GO:0008449)			breast(2)|central_nervous_system(3)|endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	Breast(64;0.0654)		Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)			GCACAGAATTGCTGGGAAGCC	0.473																																						ENST00000260128.4																			0				breast(2)|central_nervous_system(3)|endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	52						c.(49-51)ttG>ttA		sulfatase 1							145	130	135					8																	70476261		2203	4300	6503	SO:0001819	synonymous_variant	23213				apoptosis|bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding	g.chr8:70476261G>A	AB029000	CCDS6204.1	8q13.2	2014-09-11			ENSG00000137573	ENSG00000137573			20391	protein-coding gene	gene with protein product		610012				12368295	Standard	NM_015170		Approved	KIAA1077, SULF-1	uc003xyd.2	Q8IWU6	OTTHUMG00000164466	ENST00000260128.4:c.51G>A	8.37:g.70476261G>A						SULF1_ENST00000402687.4_Silent_p.L17L|SULF1_ENST00000419716.3_Silent_p.L17L|SULF1_ENST00000458141.2_Silent_p.L17L	p.L17L	NM_015170.2	NP_055985.2	Q8IWU6	SULF1_HUMAN	Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)		5	768	+	Breast(64;0.0654)		17					Q86YV8|Q8NCA2|Q9UPS5	Silent	SNP	ENST00000260128.4	37	c.51G>A	CCDS6204.1																																																																																				0.473	SULF1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378885.2	NM_015170		21	85	0	0	0	1	0	21	85					A	70476261	G	A	70476261	2	1	435	1	0	0	0	0	0	0	0	1	15369	1310	46	3		3	SULF1	8	70476261	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	2368588	70476261	75887761	4044	24969											
SLCO5A1	81796	broad.mit.edu	37	chr8	70674044	70674044	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ttctgggatcaacataaaaaCcaataagaagtccacctaat	18	9	5	9	0	2	1	1	0	1	1	3	2	3	2	3	1	2	0	3	1	8	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:70674044C>T	ENST00000260126.4	-	3	1680	c.974G>A	c.(973-975)gGt>gAt	p.G325D	SLCO5A1_ENST00000528658.1_5'UTR|SLCO5A1_ENST00000524945.1_Missense_Mutation_p.G325D|SLCO5A1_ENST00000530307.1_Missense_Mutation_p.G325D	NM_030958.2	NP_112220.2	Q9H2Y9	SO5A1_HUMAN	solute carrier organic anion transporter family, member 5A1	325						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	53	Breast(64;0.0654)		Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)			AACATAAAAACCAATAAGAAG	0.398																																						ENST00000260126.3																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	53						c.(973-975)gGt>gAt		solute carrier organic anion transporter family, member 5A1							89	87	88					8																	70674044		2203	4300	6503	SO:0001583	missense	81796					integral to membrane|plasma membrane	transporter activity	g.chr8:70674044C>T	AF205075	CCDS6205.1, CCDS55242.1, CCDS55243.1	8q13.1	2013-05-22	2003-11-25	2003-11-26	ENSG00000137571	ENSG00000137571		"Solute carriers"	19046	protein-coding gene	gene with protein product		613543	"solute carrier family 21 (organic anion transporter), member 15"	SLC21A15		12507753	Standard	NM_030958		Approved	OATPRP4, OATP-J, OATP5A1	uc003xyl.3	Q9H2Y9	OTTHUMG00000165121	ENST00000260126.4:c.974G>A	8.37:g.70674044C>T	ENSP00000260126:p.Gly325Asp					SLCO5A1_ENST00000528658.1_5'UTR|SLCO5A1_ENST00000530307.1_Missense_Mutation_p.G325D|SLCO5A1_ENST00000524945.1_Missense_Mutation_p.G325D	p.G325D	NM_030958.2	NP_112220.2	Q9H2Y9	SO5A1_HUMAN	Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)		3	1680	-	Breast(64;0.0654)		325					A4QPC2|B2RPF7|B3KMU7|E9PKK5|G3V1C0	Missense_Mutation	SNP	ENST00000260126.4	37	c.974G>A	CCDS6205.1	.	.	.	.	.	.	.	.	.	.	C	26.7	4.765526	0.90020	.	.	ENSG00000137571	ENST00000260126;ENST00000524945;ENST00000530307	T;T;T	0.38401	1.14;1.14;1.14	4.9	4.9	0.64082	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	T	0.47432	0.1445	N	0.24115	0.695	0.80722	D	1	D;D;B;D	0.89917	1.0;1.0;0.382;1.0	D;D;B;D	0.79784	0.993;0.99;0.381;0.988	T	0.46843	-0.9162	10	0.42905	T	0.14	.	18.4284	0.90617	0.0:1.0:0.0:0.0	.	325;325;325;325	B4DR09;E9PKK5;Q9H2Y9;G3V1C0	.;.;SO5A1_HUMAN;.	D	325	ENSP00000260126:G325D;ENSP00000434422:G325D;ENSP00000431611:G325D	ENSP00000260126:G325D	G	-	2	0	SLCO5A1	70836598	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.776000	0.85560	2.433000	0.82419	0.460000	0.39030	GGT		0.398	SLCO5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381990.3	NM_030958		8	52	0	0	0	1	0	8	52					T	70674044	C	T	70674044	3	4	435	1	0	0	0	0	1	0	0	0	14731	507	18	3	1604	3	SLCO5A1	8	70674044	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	197783	70674044	75689978	4045	24970											
NCOA2	10499	broad.mit.edu	37	chr8	71053445	71053445	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcatgacctgagactgaagcGtctgtctttggccaggctgg	7	11	13	10	1	3	3	1	3	2	1	3	4	3	3	2	3	1	1	2	3	1	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:71053445G>A	ENST00000452400.2	-	14	3183	c.3002C>T	c.(3001-3003)aCg>aTg	p.T1001M	NCOA2_ENST00000267974.4_Missense_Mutation_p.T89M	NM_006540.2	NP_006531.1	Q15596	NCOA2_HUMAN	nuclear receptor coactivator 2	1001					cellular lipid metabolic process (GO:0044255)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of glucose metabolic process (GO:0010906)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	chromatin binding (GO:0003682)|histone acetyltransferase activity (GO:0004402)|ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nuclear hormone receptor binding (GO:0035257)|signal transducer activity (GO:0004871)|thyroid hormone receptor coactivator activity (GO:0030375)|transcription coactivator activity (GO:0003713)		PAX3/NCOA2(4)|HEY1/NCOA2(10)	NS(1)|breast(4)|endometrium(7)|kidney(4)|large_intestine(10)|lung(25)|ovary(1)|pancreas(2)|prostate(2)|skin(4)	60	Breast(64;0.201)		Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606)			AGACTGAAGCGTCTGTCTTTG	0.502			T	"RUNXBP2, HEY1"	"AML, Chondrosarcoma"																																	ENST00000452400.2				Dom	yes		8	8q13.1	10499	T	nuclear receptor coactivator 2 (TIF2)			L	"RUNXBP2, HEY1"		"AML, Chondrosarcoma"	PAX3/NCOA2(4)|HEY1/NCOA2(10)	0				NS(1)|breast(4)|endometrium(7)|kidney(4)|large_intestine(10)|lung(25)|ovary(1)|pancreas(2)|prostate(2)|skin(4)	60						c.(3001-3003)aCg>aTg		nuclear receptor coactivator 2							53	57	55					8																	71053445		2011	4183	6194	SO:0001583	missense	10499				cellular lipid metabolic process|transcription, DNA-dependent	nucleoplasm	histone acetyltransferase activity|ligand-dependent nuclear receptor binding|nuclear hormone receptor binding|signal transducer activity	g.chr8:71053445G>A	X97674	CCDS47872.1	8q13.3	2011-07-01			ENSG00000140396	ENSG00000140396		"Chromatin-modifying enzymes / K-acetyltransferases", "Basic helix-loop-helix proteins"	7669	protein-coding gene	gene with protein product		601993				9111344, 8670870	Standard	XM_005251128		Approved	TIF2, GRIP1, NCoA-2, KAT13C, bHLHe75	uc003xyn.1	Q15596	OTTHUMG00000164671	ENST00000452400.2:c.3002C>T	8.37:g.71053445G>A	ENSP00000399968:p.Thr1001Met					NCOA2_ENST00000267974.4_Missense_Mutation_p.T89M	p.T1001M	NM_006540.2	NP_006531.1	Q15596	NCOA2_HUMAN	Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606)		14	3183	-	Breast(64;0.201)		1001					Q14CD2	Missense_Mutation	SNP	ENST00000452400.2	37	c.3002C>T	CCDS47872.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	4.446|4.446	0.082616|0.082616	0.08533|0.08533	.|.	.|.	ENSG00000140396|ENSG00000140396	ENST00000518363|ENST00000452400;ENST00000267974	.|T;T	.|0.05081	.|5.05;3.5	6.05|6.05	4.9|4.9	0.64082|0.64082	.|.	.|0.112581	.|0.85682	.|N	.|0.000000	T|T	0.01558|0.01558	0.0050|0.0050	N|N	0.00317|0.00317	-1.655|-1.655	0.27898|0.27898	N|N	0.939088|0.939088	.|B;B	.|0.02656	.|0.0;0.0	.|B;B	.|0.01281	.|0.0;0.0	T|T	0.40553|0.40553	-0.9557|-0.9557	5|10	.|0.02654	.|T	.|1	.|.	11.5168|11.5168	0.50526|0.50526	0.9292:0.0:0.0708:0.0|0.9292:0.0:0.0708:0.0	.|.	.|89;1001	.|F8WAJ2;Q15596	.|.;NCOA2_HUMAN	C|M	102|1001;89	.|ENSP00000399968:T1001M;ENSP00000267974:T89M	.|ENSP00000267974:T89M	R|T	-|-	1|2	0|0	NCOA2|NCOA2	71215999|71215999	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	5.606000|5.606000	0.67641|0.67641	1.121000|1.121000	0.41925|0.41925	-0.312000|-0.312000	0.09012|0.09012	CGC|ACG		0.502	NCOA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379696.1			8	7	0	0	0	1	0	8	7					A	71053445	G	A	71053445	3	1	435	1	0	0	0	0	1	0	0	0	10229	1145	40	1	1432	1	NCOA2	8	71053445	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	379401	71053445	75310577	4046	24971											
NCOA2	10499	broad.mit.edu	37	chr8	71068946	71068946	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttttaggtctggtgaagccaAcgatgaccctaatgagaccc	11	10	10	10	1	1	3	0	3	1	1	1	5	1	3	3	2	2	0	3	2	4	3	rs551982887	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:71068946A>G	ENST00000452400.2	-	11	1835	c.1654T>C	c.(1654-1656)Ttg>Ctg	p.L552L	NCOA2_ENST00000524223.1_Intron	NM_006540.2	NP_006531.1	Q15596	NCOA2_HUMAN	nuclear receptor coactivator 2	552					cellular lipid metabolic process (GO:0044255)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of glucose metabolic process (GO:0010906)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	chromatin binding (GO:0003682)|histone acetyltransferase activity (GO:0004402)|ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nuclear hormone receptor binding (GO:0035257)|signal transducer activity (GO:0004871)|thyroid hormone receptor coactivator activity (GO:0030375)|transcription coactivator activity (GO:0003713)		PAX3/NCOA2(4)|HEY1/NCOA2(10)	NS(1)|breast(4)|endometrium(7)|kidney(4)|large_intestine(10)|lung(25)|ovary(1)|pancreas(2)|prostate(2)|skin(4)	60	Breast(64;0.201)		Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606)			GGTGAAGCCAACGATGACCCT	0.498			T	"RUNXBP2, HEY1"	"AML, Chondrosarcoma"																																	ENST00000452400.2				Dom	yes		8	8q13.1	10499	T	nuclear receptor coactivator 2 (TIF2)			L	"RUNXBP2, HEY1"		"AML, Chondrosarcoma"	PAX3/NCOA2(4)|HEY1/NCOA2(10)	0				NS(1)|breast(4)|endometrium(7)|kidney(4)|large_intestine(10)|lung(25)|ovary(1)|pancreas(2)|prostate(2)|skin(4)	60						c.(1654-1656)Ttg>Ctg		nuclear receptor coactivator 2							97	95	95					8																	71068946		1895	4129	6024	SO:0001819	synonymous_variant	10499				cellular lipid metabolic process|transcription, DNA-dependent	nucleoplasm	histone acetyltransferase activity|ligand-dependent nuclear receptor binding|nuclear hormone receptor binding|signal transducer activity	g.chr8:71068946A>G	X97674	CCDS47872.1	8q13.3	2011-07-01			ENSG00000140396	ENSG00000140396		"Chromatin-modifying enzymes / K-acetyltransferases", "Basic helix-loop-helix proteins"	7669	protein-coding gene	gene with protein product		601993				9111344, 8670870	Standard	XM_005251128		Approved	TIF2, GRIP1, NCoA-2, KAT13C, bHLHe75	uc003xyn.1	Q15596	OTTHUMG00000164671	ENST00000452400.2:c.1654T>C	8.37:g.71068946A>G						NCOA2_ENST00000524223.1_Intron	p.L552L	NM_006540.2	NP_006531.1	Q15596	NCOA2_HUMAN	Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606)		11	1835	-	Breast(64;0.201)		552					Q14CD2	Silent	SNP	ENST00000452400.2	37	c.1654T>C	CCDS47872.1																																																																																				0.498	NCOA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379696.1			7	62	0	0	0	1	0	7	62					G	71068946	A	G	71068946	2	3	435	1	0	0	0	0	0	0	0	1	10229	40	2	4		4	NCOA2	8	71068946	Silent	SNP	A	TCGA-XK-AAIW-01A-11D-A41K-08	15501	71068946	75295076	4047	24972											
NCOA2	10499	broad.mit.edu	37	chr8	71069250	71069250	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggttgcttgcatgcctgaCacatggttcattcccccaga	7	12	10	12	0	1	2	1	1	0	1	2	2	2	2	3	2	3	4	3	2	0	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:71069250C>T	ENST00000452400.2	-	11	1531	c.1350G>A	c.(1348-1350)gtG>gtA	p.V450V	NCOA2_ENST00000524223.1_Intron	NM_006540.2	NP_006531.1	Q15596	NCOA2_HUMAN	nuclear receptor coactivator 2	450					cellular lipid metabolic process (GO:0044255)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of glucose metabolic process (GO:0010906)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	chromatin binding (GO:0003682)|histone acetyltransferase activity (GO:0004402)|ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nuclear hormone receptor binding (GO:0035257)|signal transducer activity (GO:0004871)|thyroid hormone receptor coactivator activity (GO:0030375)|transcription coactivator activity (GO:0003713)		PAX3/NCOA2(4)|HEY1/NCOA2(10)	NS(1)|breast(4)|endometrium(7)|kidney(4)|large_intestine(10)|lung(25)|ovary(1)|pancreas(2)|prostate(2)|skin(4)	60	Breast(64;0.201)		Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606)			GCATGCCTGACACATGGTTCA	0.502			T	"RUNXBP2, HEY1"	"AML, Chondrosarcoma"																																	ENST00000452400.2				Dom	yes		8	8q13.1	10499	T	nuclear receptor coactivator 2 (TIF2)			L	"RUNXBP2, HEY1"		"AML, Chondrosarcoma"	PAX3/NCOA2(4)|HEY1/NCOA2(10)	0				NS(1)|breast(4)|endometrium(7)|kidney(4)|large_intestine(10)|lung(25)|ovary(1)|pancreas(2)|prostate(2)|skin(4)	60						c.(1348-1350)gtG>gtA		nuclear receptor coactivator 2							144	140	141					8																	71069250		2001	4153	6154	SO:0001819	synonymous_variant	10499				cellular lipid metabolic process|transcription, DNA-dependent	nucleoplasm	histone acetyltransferase activity|ligand-dependent nuclear receptor binding|nuclear hormone receptor binding|signal transducer activity	g.chr8:71069250C>T	X97674	CCDS47872.1	8q13.3	2011-07-01			ENSG00000140396	ENSG00000140396		"Chromatin-modifying enzymes / K-acetyltransferases", "Basic helix-loop-helix proteins"	7669	protein-coding gene	gene with protein product		601993				9111344, 8670870	Standard	XM_005251128		Approved	TIF2, GRIP1, NCoA-2, KAT13C, bHLHe75	uc003xyn.1	Q15596	OTTHUMG00000164671	ENST00000452400.2:c.1350G>A	8.37:g.71069250C>T						NCOA2_ENST00000524223.1_Intron	p.V450V	NM_006540.2	NP_006531.1	Q15596	NCOA2_HUMAN	Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606)		11	1531	-	Breast(64;0.201)		450					Q14CD2	Silent	SNP	ENST00000452400.2	37	c.1350G>A	CCDS47872.1																																																																																				0.502	NCOA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379696.1			16	26	0	0	0	1	0	16	26					T	71069250	C	T	71069250	2	4	435	1	0	0	0	0	0	0	0	1	10229	465	17	3		3	NCOA2	8	71069250	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	304	71069250	75294772	4048	24973											
TRPA1	8989	broad.mit.edu	37	chr8	72958763	72958763	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cttacgttgagggctgtaagCggttcatatataacatcctg	10	13	10	8	2	1	1	1	1	0	0	2	1	2	1	1	2	3	4	1	2	5	7	rs145960717	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:72958763C>T	ENST00000262209.4	-	17	2253	c.2046G>A	c.(2044-2046)ccG>ccA	p.P682P	RP11-383H13.1_ENST00000537896.1_Intron|RP11-383H13.1_ENST00000457356.4_Intron|RP11-383H13.1_ENST00000524152.1_Intron	NM_007332.2	NP_015628.2	O75762	TRPA1_HUMAN	transient receptor potential cation channel, subfamily A, member 1	682					calcium ion transmembrane transport (GO:0070588)|detection of chemical stimulus involved in sensory perception of pain (GO:0050968)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|response to cold (GO:0009409)|response to drug (GO:0042493)|response to hydrogen peroxide (GO:0042542)|response to pain (GO:0048265)|thermoception (GO:0050955)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|stereocilium bundle (GO:0032421)	calcium channel activity (GO:0005262)|channel activity (GO:0015267)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1)	98			Epithelial(68;0.223)		Menthol(DB00825)	GGGCTGTAAGCGGTTCATATA	0.279													A|||	5	0.000998403	0.003	0.0014	5008	,	,		14758	0		0	False		,,,				2504	0					ENST00000262209.4																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1)	98						c.(2044-2046)ccG>ccA		transient receptor potential cation channel, subfamily A, member 1	Menthol(DB00825)	A		23,4383		0,23,2180	171	184	180		2046	2.2	1	8	dbSNP_134	180	0,8598		0,0,4299	no	coding-synonymous	TRPA1	NM_007332.2		0,23,6479	TT,TC,CC		0.0,0.522,0.1769		682/1120	72958763	23,12981	2203	4299	6502	SO:0001819	synonymous_variant	8989					integral to plasma membrane		g.chr8:72958763C>T	Y10601	CCDS34908.1	8q13	2013-01-10	2003-11-20	2003-11-20	ENSG00000104321	ENSG00000104321		"Voltage-gated ion channels / Transient receptor potential cation channels", "Ankyrin repeat domain containing"	497	protein-coding gene	gene with protein product		604775	"ankyrin-like with transmembrane domains 1"	ANKTM1		16382100	Standard	NM_007332		Approved		uc003xza.3	O75762	OTTHUMG00000164516	ENST00000262209.4:c.2046G>A	8.37:g.72958763C>T						RP11-383H13.1_ENST00000524152.1_Intron|RP11-383H13.1_ENST00000537896.1_Intron|RP11-383H13.1_ENST00000457356.4_Intron	p.P682P	NM_007332.2	NP_015628.2	O75762	TRPA1_HUMAN	Epithelial(68;0.223)		17	2253	-			682					A6NIN6	Silent	SNP	ENST00000262209.4	37	c.2046G>A	CCDS34908.1																																																																																				0.279	TRPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379079.2	NM_007332		7	60	0	0	0	1	0	7	60					T	72958763	C	T	72958763	2	4	435	1	0	0	0	0	0	0	0	1	16574	755	27	1		1	TRPA1	8	72958763	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	1889513	72958763	73405259	4049	24974											
TRPA1	8989	broad.mit.edu	37	chr8	72964955	72964955	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtggctcagaagaagcgcaaCggctttggcgtggccttccc	7	8	14	12	3	1	2	1	0	0	2	2	2	2	2	2	4	2	3	2	4	3	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:72964955C>T	ENST00000262209.4	-	14	1897	c.1690G>A	c.(1690-1692)Gtt>Att	p.V564I	RP11-383H13.1_ENST00000537896.1_3'UTR|RP11-383H13.1_ENST00000457356.4_3'UTR	NM_007332.2	NP_015628.2	O75762	TRPA1_HUMAN	transient receptor potential cation channel, subfamily A, member 1	564					calcium ion transmembrane transport (GO:0070588)|detection of chemical stimulus involved in sensory perception of pain (GO:0050968)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|response to cold (GO:0009409)|response to drug (GO:0042493)|response to hydrogen peroxide (GO:0042542)|response to pain (GO:0048265)|thermoception (GO:0050955)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|stereocilium bundle (GO:0032421)	calcium channel activity (GO:0005262)|channel activity (GO:0015267)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1)	98			Epithelial(68;0.223)		Menthol(DB00825)	AGAAGCGCAACGGCTTTGGCG	0.468																																						ENST00000262209.4																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1)	98						c.(1690-1692)Gtt>Att		transient receptor potential cation channel, subfamily A, member 1	Menthol(DB00825)						157	131	140					8																	72964955		2203	4300	6503	SO:0001583	missense	8989					integral to plasma membrane		g.chr8:72964955C>T	Y10601	CCDS34908.1	8q13	2013-01-10	2003-11-20	2003-11-20	ENSG00000104321	ENSG00000104321		"Voltage-gated ion channels / Transient receptor potential cation channels", "Ankyrin repeat domain containing"	497	protein-coding gene	gene with protein product		604775	"ankyrin-like with transmembrane domains 1"	ANKTM1		16382100	Standard	NM_007332		Approved		uc003xza.3	O75762	OTTHUMG00000164516	ENST00000262209.4:c.1690G>A	8.37:g.72964955C>T	ENSP00000262209:p.Val564Ile					RP11-383H13.1_ENST00000537896.1_3'UTR|RP11-383H13.1_ENST00000457356.4_3'UTR	p.V564I	NM_007332.2	NP_015628.2	O75762	TRPA1_HUMAN	Epithelial(68;0.223)		14	1897	-			564					A6NIN6	Missense_Mutation	SNP	ENST00000262209.4	37	c.1690G>A	CCDS34908.1	.	.	.	.	.	.	.	.	.	.	C	15.51	2.855621	0.51376	.	.	ENSG00000104321	ENST00000523582;ENST00000262209	T;T	0.69685	-0.42;-0.42	4.98	4.09	0.47781	Ankyrin repeat-containing domain (4);	0.158692	0.56097	D	0.000032	T	0.75213	0.3819	M	0.75615	2.305	0.41536	D	0.988483	D	0.67145	0.996	P	0.57548	0.823	T	0.74137	-0.3762	10	0.29301	T	0.29	-14.4863	13.0896	0.59160	0.0:0.9218:0.0:0.0782	.	564	O75762	TRPA1_HUMAN	I	416;564	ENSP00000428151:V416I;ENSP00000262209:V564I	ENSP00000262209:V564I	V	-	1	0	TRPA1	73127509	0.998000	0.40836	0.043000	0.18650	0.508000	0.34012	5.202000	0.65169	2.466000	0.83321	0.585000	0.79938	GTT		0.468	TRPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379079.2	NM_007332		43	49	0	0	0	1	0	43	49					T	72964955	C	T	72964955	3	4	435	1	0	0	0	0	1	0	0	0	16574	536	19	1	1725	1	TRPA1	8	72964955	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	6192	72964955	73399067	4050	24975											
STAU2	27067	broad.mit.edu	37	chr8	74600977	74600977	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gctttattggcaacagcctgCtgagccttctttatactgct	7	15	8	11	0	1	1	0	1	1	0	1	1	1	1	2	1	6	4	2	1	4	7			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:74600977C>A	ENST00000521419.1	-	4	378	c.72G>T	c.(70-72)caG>caT	p.Q24H	STAU2_ENST00000519961.1_Missense_Mutation_p.Q62H|STAU2_ENST00000524300.1_Missense_Mutation_p.Q62H|STAU2_ENST00000522962.1_5'UTR|STAU2_ENST00000522509.1_Missense_Mutation_p.Q30H|STAU2_ENST00000521451.1_Intron|RP11-463D19.1_ENST00000533978.1_lincRNA|STAU2_ENST00000524104.1_Missense_Mutation_p.Q30H|STAU2_ENST00000355780.5_Missense_Mutation_p.Q30H|STAU2_ENST00000521210.1_Intron|STAU2_ENST00000517542.1_Missense_Mutation_p.Q24H|STAU2_ENST00000522695.1_Missense_Mutation_p.Q30H|STAU2_ENST00000523558.1_Intron|RP11-463D19.2_ENST00000358757.5_3'UTR|STAU2_ENST00000521727.1_Missense_Mutation_p.Q42H			Q9NUL3	STAU2_HUMAN	staufen double-stranded RNA binding protein 2	62	DRBM 1. {ECO:0000255|PROSITE- ProRule:PRU00266}.				transport (GO:0006810)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|microtubule (GO:0005874)|nucleus (GO:0005634)	double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)	19	Breast(64;0.0138)		Epithelial(68;0.026)|BRCA - Breast invasive adenocarcinoma(89;0.0483)|all cancers(69;0.0972)			CAACAGCCTGCTGAGCCTTCT	0.428																																						ENST00000355780.5																			0				breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)	19						c.(88-90)caG>caT		staufen double-stranded RNA binding protein 2							202	183	190					8																	74600977		2203	4300	6503	SO:0001583	missense	27067				transport	endoplasmic reticulum|microtubule|nucleolus	double-stranded RNA binding	g.chr8:74600977C>A	Y19062	CCDS6214.1, CCDS55244.1, CCDS55245.1, CCDS55246.1, CCDS55247.1, CCDS55248.1	8q21.11	2013-06-05	2013-06-05		ENSG00000040341	ENSG00000040341			11371	protein-coding gene	gene with protein product		605920	"staufen (Drosophila, RNA-binding protein) homolog 2", "staufen, RNA binding protein, homolog 2 (Drosophila)"			10585778	Standard	NM_014393		Approved	39K2	uc003xzm.3	Q9NUL3	OTTHUMG00000164499	ENST00000521419.1:c.72G>T	8.37:g.74600977C>A	ENSP00000428681:p.Gln24His					STAU2_ENST00000517542.1_Missense_Mutation_p.Q24H|RP11-463D19.2_ENST00000358757.5_3'UTR|STAU2_ENST00000522509.1_Missense_Mutation_p.Q30H|STAU2_ENST00000522695.1_Missense_Mutation_p.Q30H|STAU2_ENST00000519961.1_Missense_Mutation_p.Q62H|STAU2_ENST00000522962.1_5'UTR|STAU2_ENST00000521419.1_Missense_Mutation_p.Q24H|RP11-463D19.1_ENST00000533978.1_lincRNA|STAU2_ENST00000523558.1_Intron|STAU2_ENST00000524300.1_Missense_Mutation_p.Q62H|STAU2_ENST00000521727.1_Missense_Mutation_p.Q42H|STAU2_ENST00000521451.1_Intron|STAU2_ENST00000524104.1_Missense_Mutation_p.Q30H|STAU2_ENST00000521210.1_Intron	p.Q30H	NM_014393.2	NP_055208.2	Q9NUL3	STAU2_HUMAN	Epithelial(68;0.026)|BRCA - Breast invasive adenocarcinoma(89;0.0483)|all cancers(69;0.0972)		4	308	-	Breast(64;0.0138)		62			DRBM 1.		B7Z1I6|B7Z292|B7Z8B4|E7ER74|E9PEI3|E9PF26|E9PF50|Q6AHY7|Q96HM0|Q96HM1|Q9NVI5|Q9UGG6	Missense_Mutation	SNP	ENST00000521419.1	37	c.90G>T		.	.	.	.	.	.	.	.	.	.	T	13.51	2.258380	0.39896	.	.	ENSG00000040341	ENST00000522695;ENST00000524300;ENST00000355780;ENST00000519961;ENST00000521727;ENST00000522509;ENST00000517542;ENST00000521447;ENST00000524104;ENST00000521419;ENST00000521736	T;T;T;T;T;T;T;T	0.77620	0.6;-1.11;0.62;-1.11;0.57;0.62;0.62;0.21	5.73	-5.44	0.02624	.	0.000000	0.85682	D	0.000000	T	0.81612	0.4859	M	0.92412	3.305	0.48696	D	0.999694	B;B;B;B;B;B;B	0.21309	0.028;0.028;0.028;0.047;0.005;0.006;0.054	B;B;B;B;B;B;B	0.33254	0.012;0.012;0.016;0.027;0.011;0.003;0.16	T	0.69800	-0.5047	10	0.72032	D	0.01	-36.8174	14.6551	0.68828	0.0877:0.5907:0.0:0.3216	.	42;30;24;30;62;30;62	E7EPX0;A8K276;E5RGT3;F8VPI7;E7EVJ4;E9PH62;E9PF26	.;.;.;.;.;.;.	H	30;62;30;62;42;30;24;30;30;24;30	ENSP00000428456:Q30H;ENSP00000428756:Q62H;ENSP00000348026:Q30H;ENSP00000430907:Q62H;ENSP00000429973:Q42H;ENSP00000427977:Q30H;ENSP00000431111:Q24H;ENSP00000428829:Q30H	ENSP00000348026:Q30H	Q	-	3	2	STAU2	74763531	0.016000	0.18221	0.703000	0.30354	0.794000	0.44872	-1.065000	0.03458	-1.328000	0.02261	-1.033000	0.02402	CAG		0.428	STAU2-013	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000379012.2	NM_001164380		59	87	1	0	5.82218e-30	1	6.52265e-30	59	87					A	74600977	C	A	74600977	3	1	435	1	0	0	0	0	1	0	0	0	15272	796	28	5	1694	5	STAU2	8	74600977	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	1636022	74600977	71763045	4051	24976											
ZFHX4	79776	broad.mit.edu	37	chr8	77618377	77618377	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gactggacagcctcaccccaGgcttgcccggggtgagagtt	7	7	14	13	1	1	1	1	1	0	1	1	4	1	2	4	4	2	2	4	4	0	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:77618377G>T	ENST00000521891.2	+	2	2502	c.2054G>T	c.(2053-2055)aGg>aTg	p.R685M	ZFHX4_ENST00000455469.2_Missense_Mutation_p.R685M|ZFHX4_ENST00000518282.1_Missense_Mutation_p.R685M|ZFHX4_ENST00000517683.1_Intron|ZFHX4_ENST00000050961.6_Missense_Mutation_p.R685M	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	685					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			CCTCACCCCAGGCTTGCCCGG	0.502										HNSCC(33;0.089)																												ENST00000521891.2																			0				NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432						c.(2053-2055)aGg>aTg		zinc finger homeobox 4							43	47	46					8																	77618377		2117	4258	6375	SO:0001583	missense	79776					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:77618377G>T		CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"Homeoboxes / ZF class"	30939	protein-coding gene	gene with protein product		606940	"zinc finger homeodomain 4"			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.2054G>T	8.37:g.77618377G>T	ENSP00000430497:p.Arg685Met	HNSCC(33;0.089)				ZFHX4_ENST00000518282.1_Missense_Mutation_p.R685M|ZFHX4_ENST00000455469.2_Missense_Mutation_p.R685M|ZFHX4_ENST00000517683.1_Intron|ZFHX4_ENST00000050961.6_Missense_Mutation_p.R685M	p.R685M	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.0895)		2	2502	+			685					G3V138|Q18PS0|Q6ZN20	Missense_Mutation	SNP	ENST00000521891.2	37	c.2054G>T	CCDS47878.2	.	.	.	.	.	.	.	.	.	.	G	15.36	2.811608	0.50527	.	.	ENSG00000091656	ENST00000521891;ENST00000399468;ENST00000455469;ENST00000050961;ENST00000518282	T;T;T;T	0.57595	0.45;0.44;0.41;0.39	4.93	4.93	0.64822	.	0.000000	0.45867	U	0.000337	T	0.75838	0.3904	M	0.84082	2.675	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;1.0;1.0	D;D;D;D	0.97110	0.994;0.998;0.997;1.0	T	0.79617	-0.1729	10	0.87932	D	0	.	18.6814	0.91547	0.0:0.0:1.0:0.0	.	685;685;685;685	Q86UP3;Q86UP3-4;G3V138;Q86UP3-3	ZFHX4_HUMAN;.;.;.	M	685	ENSP00000430497:R685M;ENSP00000399605:R685M;ENSP00000050961:R685M;ENSP00000430848:R685M	ENSP00000050961:R685M	R	+	2	0	ZFHX4	77780932	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.601000	0.98297	2.710000	0.92621	0.650000	0.86243	AGG		0.502	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	NM_024721		11	16	1	0	0.00829132	1	0.00837884	11	16					T	77618377	G	T	77618377	3	4	435	1	0	0	0	0	1	0	0	0	17632	1000	35	5	2056	5	ZFHX4	8	77618377	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	3017400	77618377	68745645	4052	24977											
IL7	3574	broad.mit.edu	37	chr8	79652263	79652264	+	Frame_Shift_Ins	INS	-	-	A																															gcatcacagatatgtcttttINSaaaaaagttaaattcattat																										TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:79652263_79652264insA	ENST00000263851.4	-	3	801_802	c.201_202insT	c.(199-204)tttaaafs	p.K68fs	IL7_ENST00000519833.1_5'UTR|IL7_ENST00000520269.1_Frame_Shift_Ins_p.K68fs|IL7_ENST00000541183.1_Frame_Shift_Ins_p.K17fs	NM_000880.3|NM_001199886.1|NM_001199887.1	NP_000871.1|NP_001186815.1|NP_001186816.1	P13232	IL7_HUMAN	interleukin 7	68					bone resorption (GO:0045453)|cell-cell signaling (GO:0007267)|homeostasis of number of cells within a tissue (GO:0048873)|humoral immune response (GO:0006959)|negative regulation of apoptotic process (GO:0043066)|negative regulation of catalytic activity (GO:0043086)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|organ morphogenesis (GO:0009887)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cell proliferation (GO:0008284)|positive regulation of organ growth (GO:0046622)|positive regulation of T cell differentiation (GO:0045582)|regulation of gene expression (GO:0010468)|T cell lineage commitment (GO:0002360)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	growth factor activity (GO:0008083)|interleukin-7 receptor binding (GO:0005139)			endometrium(2)|large_intestine(2)|lung(1)	5						ATATGTCTTTTAAAAAAGTTAA	0.277																																						ENST00000263851.4																			0				endometrium(2)|large_intestine(2)|lung(1)	5						c.(199-204)ttaaagfs		interleukin 7																																				SO:0001589	frameshift_variant	3574				bone resorption|cell-cell signaling|humoral immune response|organ morphogenesis|positive regulation of B cell proliferation|positive regulation of T cell differentiation	extracellular space	cytokine activity|growth factor activity|interleukin-7 receptor binding	g.chr8:79652263_79652264insA	J04156	CCDS6224.1, CCDS56541.1, CCDS75755.1, CCDS75756.1	8q12-q13	2008-07-03				ENSG00000104432		"Interleukins and interleukin receptors"	6023	protein-coding gene	gene with protein product		146660					Standard	NM_000880		Approved	IL-7	uc003ybg.3	P13232		ENST00000263851.4:c.202dupT	8.37:g.79652269_79652269dupA	ENSP00000263851:p.Lys68fs					IL7_ENST00000519833.1_5'UTR|IL7_ENST00000541183.1_Frame_Shift_Ins_p.L16fs|IL7_ENST00000520269.1_Frame_Shift_Ins_p.L67fs	p.L67fs	NM_000880.3|NM_001199886.1|NM_001199887.1	NP_000871.1|NP_001186815.1|NP_001186816.1	P13232	IL7_HUMAN			3	801_802	-			67					A0N0L3|Q5FBY5|Q5FBY9	Frame_Shift_Ins	INS	ENST00000263851.4	37	c.201_202insT	CCDS6224.1																																																																																				0.277	IL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379429.1			14	88						14	88	---	---	---	---	A	79652264	-	A	79652263	7	5	435	1	0	1	1	0	0	0	0	0	7704	1763	61	0	347	0	IL7	8	79652263	Frame_Shift_Ins	INS	-	TCGA-XK-AAIW-01A-11D-A41K-08	2033886	79652263	66711759	4053	24978											
IMPA1	3612	broad.mit.edu	37	chr8	82571663	82571663	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgctaatattctattatttgCagcaattactcttcgtgaca	11	17	5	8	1	2	1	0	1	2	0	3	1	2	1	0	0	4	3	0	0	6	8			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:82571663C>T	ENST00000256108.5	-	9	1222	c.757G>A	c.(757-759)Gca>Aca	p.A253T	IMPA1_ENST00000449740.2_Missense_Mutation_p.A312T|IMPA1_ENST00000311489.4_3'UTR|IMPA1_ENST00000523710.1_5'Flank	NM_005536.3	NP_005527.1	P29218	IMPA1_HUMAN	inositol(myo)-1(or 4)-monophosphatase 1	253					inositol biosynthetic process (GO:0006021)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	identical protein binding (GO:0042802)|inositol monophosphate 1-phosphatase activity (GO:0008934)|inositol monophosphate 3-phosphatase activity (GO:0052832)|inositol monophosphate 4-phosphatase activity (GO:0052833)|inositol monophosphate phosphatase activity (GO:0052834)|lithium ion binding (GO:0031403)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|protein homodimerization activity (GO:0042803)			NS(1)|cervix(1)|large_intestine(4)|lung(7)|prostate(2)|skin(2)|stomach(1)	18					Lithium(DB01356)	CTATTATTTGCAGCAATTACT	0.313																																						ENST00000256108.5																			0				NS(1)|cervix(1)|large_intestine(4)|lung(7)|prostate(2)|skin(2)|stomach(1)	18						c.(757-759)Gca>Aca		inositol(myo)-1(or 4)-monophosphatase 1	Lithium(DB01356)						116	113	114					8																	82571663		2203	4300	6503	SO:0001583	missense	3612				inositol phosphate dephosphorylation|phosphatidylinositol biosynthetic process|signal transduction	cytoplasm	inositol-1(or 4)-monophosphatase activity|metal ion binding|protein homodimerization activity	g.chr8:82571663C>T		CCDS6231.1, CCDS47883.1, CCDS47884.1	8q21.1-q21.3	2008-01-28			ENSG00000133731	ENSG00000133731	3.1.3.25		6050	protein-coding gene	gene with protein product		602064		IMPA		1377913	Standard	NM_005536		Approved		uc011lfq.1	P29218	OTTHUMG00000164682	ENST00000256108.5:c.757G>A	8.37:g.82571663C>T	ENSP00000256108:p.Ala253Thr					IMPA1_ENST00000449740.2_Missense_Mutation_p.A312T|IMPA1_ENST00000311489.4_3'UTR	p.A253T	NM_005536.3	NP_005527.1	P29218	IMPA1_HUMAN			9	1222	-			253					B2R733|B4DLN3|B7Z6Q4|J3KQT7|Q9UK71	Missense_Mutation	SNP	ENST00000256108.5	37	c.757G>A	CCDS6231.1	.	.	.	.	.	.	.	.	.	.	C	24.7	4.558641	0.86231	.	.	ENSG00000133731	ENST00000256108;ENST00000449740	T;T	0.52983	0.64;0.64	5.03	4.13	0.48395	.	0.052780	0.85682	D	0.000000	T	0.64305	0.2586	M	0.68952	2.095	0.80722	D	1	D;D	0.76494	0.999;0.993	D;P	0.68039	0.955;0.897	T	0.65043	-0.6264	10	0.44086	T	0.13	-8.6943	14.372	0.66846	0.1621:0.8379:0.0:0.0	.	312;253	B7Z6Q4;P29218	.;IMPA1_HUMAN	T	253;312	ENSP00000256108:A253T;ENSP00000408526:A312T	ENSP00000256108:A253T	A	-	1	0	IMPA1	82734218	1.000000	0.71417	0.992000	0.48379	0.922000	0.55478	5.773000	0.68898	1.030000	0.39839	0.643000	0.83706	GCA		0.313	IMPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379723.1			19	32	0	0	0	1	0	19	32					T	82571663	C	T	82571663	3	4	435	1	0	0	0	0	1	0	0	0	7722	710	25	3	80	3	IMPA1	8	82571663	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	2919400	82571663	63792359	4054	24979											
RALYL	138046	broad.mit.edu	37	chr8	85799885	85799885	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agtctagtgctgatccaagaGgaatgtgtgtcagagattgc	11	11	13	6	0	2	3	1	1	1	2	3	5	3	4	1	1	2	1	1	1	3	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:85799885G>T	ENST00000521268.1	+	8	1837	c.732G>T	c.(730-732)gaG>gaT	p.E244D	RALYL_ENST00000522455.1_Missense_Mutation_p.E244D|RALYL_ENST00000523850.1_Missense_Mutation_p.E171D|RALYL_ENST00000521376.1_Intron|RALYL_ENST00000518566.1_Missense_Mutation_p.E233D|RALYL_ENST00000521695.1_Missense_Mutation_p.E244D|RALYL_ENST00000517638.1_Missense_Mutation_p.E257D	NM_173848.5	NP_776247.3	Q86SE5	RALYL_HUMAN	RALY RNA binding protein-like	244							nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)	24						TGATCCAAGAGGAATGTGTGT	0.502																																						ENST00000521268.1																			0				endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)	24						c.(730-732)gaG>gaT		RALY RNA binding protein-like							131	129	130					8																	85799885		1959	4149	6108	SO:0001583	missense	138046						identical protein binding|nucleotide binding|RNA binding	g.chr8:85799885G>T		CCDS55252.1, CCDS55253.1, CCDS75760.1, CCDS75761.1	8q21.2	2013-07-16			ENSG00000184672	ENSG00000184672		"RNA binding motif (RRM) containing"	27036	protein-coding gene	gene with protein product		614648				12688537	Standard	NM_001100391		Approved	HNRPCL3	uc003yct.4	Q86SE5	OTTHUMG00000164628	ENST00000521268.1:c.732G>T	8.37:g.85799885G>T	ENSP00000430367:p.Glu244Asp					RALYL_ENST00000521695.1_Missense_Mutation_p.E244D|RALYL_ENST00000518566.1_Missense_Mutation_p.E233D|RALYL_ENST00000521376.1_Intron|RALYL_ENST00000517638.1_Missense_Mutation_p.E257D|RALYL_ENST00000523850.1_Missense_Mutation_p.E171D|RALYL_ENST00000522455.1_Missense_Mutation_p.E244D	p.E244D	NM_173848.5	NP_776247.3	Q86SE5	RALYL_HUMAN			8	1837	+			244					B3KTH2|G3V129|Q6ZW87|Q8N1C2	Missense_Mutation	SNP	ENST00000521268.1	37	c.732G>T	CCDS55253.1	.	.	.	.	.	.	.	.	.	.	G	5.991	0.366818	0.11352	.	.	ENSG00000184672	ENST00000522455;ENST00000521695;ENST00000521268;ENST00000518566;ENST00000517638;ENST00000523850	T;T;T;T;T;T	0.16196	2.78;2.78;2.78;2.78;2.77;2.36	5.64	-11.3	0.00108	.	0.442380	0.23569	N	0.046768	T	0.06600	0.0169	L	0.41710	1.295	0.80722	D	1	B;B;B;B	0.10296	0.003;0.0;0.0;0.0	B;B;B;B	0.08055	0.003;0.0;0.0;0.0	T	0.50524	-0.8818	10	0.20046	T	0.44	-1.6096	1.0053	0.01486	0.3414:0.1084:0.2831:0.2671	.	233;171;257;244	B3KT61;Q86SE5-2;G3V129;Q86SE5	.;.;.;RALYL_HUMAN	D	244;244;244;233;257;171	ENSP00000430394:E244D;ENSP00000428667:E244D;ENSP00000430367:E244D;ENSP00000430065:E233D;ENSP00000430128:E257D;ENSP00000428807:E171D	ENSP00000430128:E257D	E	+	3	2	RALYL	85962440	0.002000	0.14202	0.178000	0.23040	0.991000	0.79684	-2.540000	0.00937	-3.265000	0.00201	-0.258000	0.10820	GAG		0.502	RALYL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379448.1			31	47	1	0	3.80469e-20	1	4.21587e-20	31	47					T	85799885	G	T	85799885	3	4	435	1	0	0	0	0	1	0	0	0	13020	991	35	5	801	5	RALYL	8	85799885	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	3228222	85799885	60564137	4055	24980											
LRRCC1	85444	broad.mit.edu	37	chr8	86037065	86037065	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	accaccttaccttaaagaatTatatgtaagctcatctttag	14	14	4	9	0	2	1	1	0	1	1	2	1	2	1	3	0	2	2	3	0	8	7			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:86037065T>C	ENST00000360375.3	+	8	1312	c.1163T>C	c.(1162-1164)tTa>tCa	p.L388S	LRRCC1_ENST00000414626.2_Missense_Mutation_p.L368S	NM_033402.4	NP_208325.3	Q9C099	LRCC1_HUMAN	leucine rich repeat and coiled-coil centrosomal protein 1	388					mitotic nuclear division (GO:0007067)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(3)|central_nervous_system(1)|endometrium(4)|kidney(9)|large_intestine(7)|lung(16)|skin(1)|upper_aerodigestive_tract(2)	43						CTTAAAGAATTATATGTAAGC	0.303																																						ENST00000414626.2																			0				breast(3)|central_nervous_system(1)|endometrium(4)|kidney(9)|large_intestine(7)|lung(16)|skin(1)|upper_aerodigestive_tract(2)	43						c.(1102-1104)tTa>tCa		leucine rich repeat and coiled-coil centrosomal protein 1							90	92	91					8																	86037065		1808	4067	5875	SO:0001583	missense	85444				cell division|mitosis	centriole|nucleus		g.chr8:86037065T>C	BC030701	CCDS43750.1	8q21.2	2012-04-10	2012-04-10		ENSG00000133739	ENSG00000133739			29373	protein-coding gene	gene with protein product	"centrosomal leucine-rich repeat and coiled-coil containing protein", "variable number of flagella 1 homolog (Chlamydomonas)"		"leucine rich repeat and coiled-coil domain containing 1"			11214970, 18728398	Standard	NM_033402		Approved	KIAA1764, CLERC, VFL1	uc003ycw.3	Q9C099	OTTHUMG00000164784	ENST00000360375.3:c.1163T>C	8.37:g.86037065T>C	ENSP00000353538:p.Leu388Ser					LRRCC1_ENST00000360375.3_Missense_Mutation_p.L388S	p.L368S			Q9C099	LRCC1_HUMAN			7	1992	+			388					B4DYX6|B5RI11|Q8N768|Q96DK7|Q96N01	Missense_Mutation	SNP	ENST00000360375.3	37	c.1103T>C	CCDS43750.1	.	.	.	.	.	.	.	.	.	.	T	10.45	1.354368	0.24512	.	.	ENSG00000133739	ENST00000360375;ENST00000414626	T;T	0.33438	1.41;1.42	4.63	4.63	0.57726	.	0.000000	0.32328	N	0.006251	T	0.41994	0.1183	L	0.43923	1.385	0.28750	N	0.901478	D;B;D;B	0.89917	1.0;0.147;1.0;0.342	D;B;D;B	0.85130	0.997;0.082;0.997;0.039	T	0.18555	-1.0333	10	0.16420	T	0.52	-7.3472	10.7403	0.46149	0.0:0.0:0.0:1.0	.	295;368;295;388	B4DV06;Q9C099-2;E9PE41;Q9C099	.;.;.;LRCC1_HUMAN	S	388;368	ENSP00000353538:L388S;ENSP00000394695:L368S	ENSP00000353538:L388S	L	+	2	0	LRRCC1	86224317	0.991000	0.36638	0.997000	0.53966	0.925000	0.55904	2.016000	0.40971	2.311000	0.77944	0.533000	0.62120	TTA		0.303	LRRCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380267.1	NM_033402		55	112	0	0	0	1	0	55	112					C	86037065	T	C	86037065	3	2	435	1	0	0	0	0	1	0	0	0	9026	1764	61	4	1193	4	LRRCC1	8	86037065	Missense_Mutation	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	237180	86037065	60326957	4056	24981											
CA13	377677	broad.mit.edu	37	chr8	86178874	86178874	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaattcagacaaataccccaGctttgttgaggcagctcatg	12	10	9	10	0	2	2	2	1	0	1	2	3	2	2	2	1	3	4	2	1	3	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:86178874G>A	ENST00000321764.3	+	4	694	c.392G>A	c.(391-393)aGc>aAc	p.S131N	CA13_ENST00000517298.1_3'UTR	NM_198584.2	NP_940986.1	Q8N1Q1	CAH13_HUMAN	carbonic anhydrase XIII	131					bicarbonate transport (GO:0015701)|one-carbon metabolic process (GO:0006730)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|myelin sheath (GO:0043209)	carbonate dehydratase activity (GO:0004089)|zinc ion binding (GO:0008270)			large_intestine(1)|lung(6)	7					Zonisamide(DB00909)	AAATACCCCAGCTTTGTTGAG	0.398																																						ENST00000321764.3																			0				large_intestine(1)|lung(6)	7						c.(391-393)aGc>aAc		carbonic anhydrase XIII							137	124	128					8																	86178874		2203	4300	6503	SO:0001583	missense	377677				one-carbon metabolic process		carbonate dehydratase activity|zinc ion binding	g.chr8:86178874G>A	BC052602	CCDS6236.1	8q21	2004-05-10				ENSG00000185015		"Carbonic anhydrases"	14914	protein-coding gene	gene with protein product		611436				14600151	Standard	NM_198584		Approved	CAXIII, FLJ37995, MGC59868	uc003ydg.2	Q8N1Q1		ENST00000321764.3:c.392G>A	8.37:g.86178874G>A	ENSP00000318912:p.Ser131Asn					CA13_ENST00000517298.1_3'UTR	p.S131N	NM_198584.2	NP_940986.1	Q8N1Q1	CAH13_HUMAN			4	694	+			131						Missense_Mutation	SNP	ENST00000321764.3	37	c.392G>A	CCDS6236.1	.	.	.	.	.	.	.	.	.	.	G	14.01	2.409070	0.42715	.	.	ENSG00000185015	ENST00000321764	T	0.63417	-0.04	5.49	4.61	0.57282	Carbonic anhydrase, alpha-class, catalytic domain (4);	0.035955	0.85682	D	0.000000	T	0.59432	0.2193	L	0.45744	1.44	0.50813	D	0.999898	B	0.21905	0.062	B	0.33295	0.161	T	0.55866	-0.8073	10	0.31617	T	0.26	-13.9566	14.6266	0.68626	0.0:0.2769:0.7231:0.0	.	131	Q8N1Q1	CAH13_HUMAN	N	131	ENSP00000318912:S131N	ENSP00000318912:S131N	S	+	2	0	CA13	86366126	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.467000	0.53078	1.442000	0.47568	0.655000	0.94253	AGC		0.398	CA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381066.1	NM_198584		11	39	0	0	0	1	0	11	39					A	86178874	G	A	86178874	3	1	435	1	0	0	0	0	1	0	0	0	2514	971	34	3	406	3	CA13	8	86178874	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	141809	86178874	60185148	4057	24982											
SLC7A13	157724	broad.mit.edu	37	chr8	87242323	87242323	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcagagcaaagagttgatgTcatggccagtatggcacagc	12	8	13	8	0	1	3	1	1	0	2	1	3	1	3	1	2	3	5	1	2	2	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:87242323T>C	ENST00000297524.3	-	1	287	c.184A>G	c.(184-186)Aca>Gca	p.T62A	SLC7A13_ENST00000520624.1_Intron|SLC7A13_ENST00000419776.2_Missense_Mutation_p.T62A	NM_138817.2	NP_620172.2	Q8TCU3	S7A13_HUMAN	solute carrier family 7 (anionic amino acid transporter), member 13	62						integral component of membrane (GO:0016021)	amino acid transmembrane transporter activity (GO:0015171)			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	45						AGAGTTGATGTCATGGCCAGT	0.473																																						ENST00000297524.3																			0				breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	45						c.(184-186)Aca>Gca		solute carrier family 7 (anionic amino acid transporter), member 13							79	72	74					8																	87242323		2203	4300	6503	SO:0001583	missense	157724					integral to membrane	amino acid transmembrane transporter activity	g.chr8:87242323T>C	AJ417661	CCDS34917.1	8q21.3	2013-07-15	2011-07-12		ENSG00000164893	ENSG00000164893		"Solute carriers"	23092	protein-coding gene	gene with protein product						11907033, 11943479	Standard	XM_005250804		Approved	AGT-1, XAT2	uc003ydq.1	Q8TCU3	OTTHUMG00000163663	ENST00000297524.3:c.184A>G	8.37:g.87242323T>C	ENSP00000297524:p.Thr62Ala					SLC7A13_ENST00000520624.1_Intron|SLC7A13_ENST00000419776.2_Missense_Mutation_p.T62A	p.T62A	NM_138817.2	NP_620172.2	Q8TCU3	S7A13_HUMAN			1	287	-			62					Q05C37|Q08AH9|Q96N84	Missense_Mutation	SNP	ENST00000297524.3	37	c.184A>G	CCDS34917.1	.	.	.	.	.	.	.	.	.	.	T	10.46	1.356068	0.24598	.	.	ENSG00000164893	ENST00000297524;ENST00000419776	D;D	0.87491	-2.26;-2.26	3.93	1.54	0.23209	Amino acid permease domain (1);	0.764374	0.11569	N	0.550990	T	0.79759	0.4501	L	0.38838	1.175	0.09310	N	1	B;B	0.29432	0.059;0.244	B;B	0.28305	0.064;0.088	T	0.69431	-0.5147	10	0.72032	D	0.01	.	6.9598	0.24591	0.0:0.2013:0.0:0.7987	.	62;62	Q8TCU3-2;Q8TCU3	.;S7A13_HUMAN	A	62	ENSP00000297524:T62A;ENSP00000410982:T62A	ENSP00000297524:T62A	T	-	1	0	SLC7A13	87311439	0.117000	0.22190	0.000000	0.03702	0.007000	0.05969	1.601000	0.36773	0.335000	0.23614	-0.315000	0.08773	ACA		0.473	SLC7A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374704.1	NM_138817		13	46	0	0	0	1	0	13	46					C	87242323	T	C	87242323	3	2	435	1	0	0	0	0	1	0	0	0	14695	1667	58	4	1244	4	SLC7A13	8	87242323	Missense_Mutation	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	1063449	87242323	59121699	4058	24983											
WWP1	11059	broad.mit.edu	37	chr8	87447713	87447713	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccacaaattgcttatgaacGcggctttaggtggaagcttg	10	12	11	8	2	0	1	0	1	0	0	1	2	1	2	1	3	3	3	1	3	5	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:87447713G>A	ENST00000517970.1	+	15	1941	c.1634G>A	c.(1633-1635)cGc>cAc	p.R545H	WWP1_ENST00000341922.2_Missense_Mutation_p.R415H|WWP1_ENST00000349423.2_Missense_Mutation_p.R327H|WWP1_ENST00000265428.4_Missense_Mutation_p.R545H	NM_007013.3	NP_008944.1	Q9H0M0	WWP1_HUMAN	WW domain containing E3 ubiquitin protein ligase 1	545					central nervous system development (GO:0007417)|ion transmembrane transport (GO:0034220)|negative regulation of transcription, DNA-templated (GO:0045892)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|signal transduction (GO:0007165)|transmembrane transport (GO:0055085)|viral entry into host cell (GO:0046718)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ubiquitin ligase complex (GO:0000151)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			endometrium(3)|kidney(2)|large_intestine(9)|liver(4)|lung(10)|prostate(2)|urinary_tract(1)	31						GCTTATGAACGCGGCTTTAGG	0.299																																						ENST00000517970.1																			0				endometrium(3)|kidney(2)|large_intestine(9)|liver(4)|lung(10)|prostate(2)|urinary_tract(1)	31						c.(1633-1635)cGc>cAc		WW domain containing E3 ubiquitin protein ligase 1							88	89	89					8																	87447713		2203	4300	6503	SO:0001583	missense	11059				central nervous system development|entry of virus into host cell|negative regulation of transcription, DNA-dependent|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|signal transduction	cytoplasm|nucleus|plasma membrane|ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity	g.chr8:87447713G>A	AY043361	CCDS6242.1	8q21.3	2013-07-22			ENSG00000123124	ENSG00000123124			17004	protein-coding gene	gene with protein product		602307				9169421, 9647693	Standard	NM_007013		Approved	AIP5, DKFZP434D2111	uc003ydt.3	Q9H0M0	OTTHUMG00000163690	ENST00000517970.1:c.1634G>A	8.37:g.87447713G>A	ENSP00000427793:p.Arg545His					WWP1_ENST00000265428.4_Missense_Mutation_p.R545H|WWP1_ENST00000341922.2_Missense_Mutation_p.R415H|WWP1_ENST00000349423.2_Missense_Mutation_p.R327H	p.R545H	NM_007013.3	NP_008944.1	Q9H0M0	WWP1_HUMAN			15	1941	+			545					O00307|Q5YLC1|Q96BP4	Missense_Mutation	SNP	ENST00000517970.1	37	c.1634G>A	CCDS6242.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.069886	0.76301	.	.	ENSG00000123124	ENST00000517970;ENST00000265428;ENST00000341922;ENST00000349423	T;T;T;T	0.55052	0.54;0.54;0.61;0.62	5.58	5.58	0.84498	HECT (1);	0.057189	0.64402	D	0.000001	T	0.66096	0.2755	M	0.93678	3.445	0.80722	D	1	B;B	0.27286	0.021;0.174	B;B	0.15484	0.004;0.013	T	0.71224	-0.4656	10	0.87932	D	0	.	19.5693	0.95406	0.0:0.0:1.0:0.0	.	327;545	Q9H0M0-6;Q9H0M0	.;WWP1_HUMAN	H	545;545;415;327	ENSP00000427793:R545H;ENSP00000265428:R545H;ENSP00000340564:R415H;ENSP00000342665:R327H	ENSP00000265428:R545H	R	+	2	0	WWP1	87516829	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	9.412000	0.97347	2.615000	0.88500	0.555000	0.69702	CGC		0.299	WWP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374755.1	NM_007013		22	51	0	0	0	1	0	22	51					A	87447713	G	A	87447713	3	1	435	1	0	0	0	0	1	0	0	0	17412	1087	38	1	1684	1	WWP1	8	87447713	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	205390	87447713	58916309	4059	24984											
CPNE3	8895	broad.mit.edu	37	chr8	87570575	87570575	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attccccagcaggtggtgggCtacttcaatacatacaaact	12	10	8	11	0	1	0	1	0	0	0	2	0	2	0	2	3	5	2	2	3	5	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:87570575C>T	ENST00000521271.1	+	17	1713	c.1551C>T	c.(1549-1551)ggC>ggT	p.G517G	CPNE3_ENST00000198765.4_Silent_p.G517G	NM_003909.3	NP_003900.1	O75131	CPNE3_HUMAN	copine III	517					lipid metabolic process (GO:0006629)|protein phosphorylation (GO:0006468)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	calcium-dependent phospholipid binding (GO:0005544)|poly(A) RNA binding (GO:0044822)|protein serine/threonine kinase activity (GO:0004674)|transporter activity (GO:0005215)			NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	23						AGGTGGTGGGCTACTTCAATA	0.433																																						ENST00000521271.1																			0				NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	23						c.(1549-1551)ggC>ggT		copine III							126	117	120					8																	87570575		2203	4300	6503	SO:0001819	synonymous_variant	8895				lipid metabolic process|vesicle-mediated transport	cytosol	calcium-dependent phospholipid binding|protein serine/threonine kinase activity|transporter activity	g.chr8:87570575C>T	AB014536	CCDS6243.1	8q21	2008-07-03				ENSG00000085719			2316	protein-coding gene	gene with protein product		604207				9430674	Standard	NM_003909		Approved		uc003ydv.2	O75131		ENST00000521271.1:c.1551C>T	8.37:g.87570575C>T						CPNE3_ENST00000198765.4_Silent_p.G517G	p.G517G	NM_003909.3	NP_003900.1	O75131	CPNE3_HUMAN			17	1713	+			517					A8KA47|Q8IYA1	Silent	SNP	ENST00000521271.1	37	c.1551C>T	CCDS6243.1																																																																																				0.433	CPNE3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374994.1			29	35	0	0	0	1	0	29	35					T	87570575	C	T	87570575	2	4	435	1	0	0	0	0	0	0	0	1	3813	784	28	3		3	CPNE3	8	87570575	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	122862	87570575	58793447	4060	24985											
DCAF4L2	138009	broad.mit.edu	37	chr8	88885836	88885836	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attcaccttccgattagggaCgtagagggttttgtgcgggt	7	13	14	7	3	1	1	1	0	0	1	2	3	2	2	2	3	1	2	2	3	2	6	rs533225288		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:88885836C>T	ENST00000319675.3	-	1	460	c.364G>A	c.(364-366)Gtc>Atc	p.V122I		NM_152418.3	NP_689631.1	Q8NA75	DC4L2_HUMAN	DDB1 and CUL4 associated factor 4-like 2	122										breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	83						CGATTAGGGACGTAGAGGGTT	0.547													C|||	0	0	0	0	5008	,	,		19592	0		0	False		,,,				2504	0					ENST00000319675.3																			0				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	83						c.(364-366)Gtc>Atc		DDB1 and CUL4 associated factor 4-like 2							122	116	118					8																	88885836		2203	4300	6503	SO:0001583	missense	138009							g.chr8:88885836C>T	AL833507	CCDS6245.1	8q21.3	2013-01-09	2009-07-17	2009-07-17		ENSG00000176566		"WD repeat domain containing"	26657	protein-coding gene	gene with protein product			"WD repeat domain 21C"	WDR21C		14702039	Standard	NM_152418		Approved		uc003ydz.3	Q8NA75		ENST00000319675.3:c.364G>A	8.37:g.88885836C>T	ENSP00000316496:p.Val122Ile						p.V122I	NM_152418.3	NP_689631.1	Q8NA75	DC4L2_HUMAN			1	460	-			122						Missense_Mutation	SNP	ENST00000319675.3	37	c.364G>A	CCDS6245.1	.	.	.	.	.	.	.	.	.	.	C	10.10	1.258662	0.23051	.	.	ENSG00000176566	ENST00000319675	T	0.70631	-0.5	1.39	-2.79	0.05841	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.085936	0.85682	D	0.000000	T	0.43233	0.1238	N	0.25647	0.755	0.19945	N	0.999948	B	0.21821	0.061	B	0.19391	0.025	T	0.21793	-1.0235	10	0.17832	T	0.49	.	0.1688	0.00111	0.3437:0.2486:0.19:0.2177	.	122	Q8NA75	DC4L2_HUMAN	I	122	ENSP00000316496:V122I	ENSP00000316496:V122I	V	-	1	0	DCAF4L2	88954952	1.000000	0.71417	0.002000	0.10522	0.019000	0.09904	2.648000	0.46647	-0.951000	0.03654	-0.518000	0.04402	GTC		0.547	DCAF4L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375302.1	NM_152418		43	48	0	0	0	1	0	43	48					T	88885836	C	T	88885836	3	4	435	1	0	0	0	0	1	0	0	0	4272	536	19	1	827	1	DCAF4L2	8	88885836	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	1315261	88885836	57478186	4061	24986											
NBN	4683	broad.mit.edu	37	chr8	90970998	90970998	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtcagctacgtatgttgtaGtgttcactggggcgcttggc	5	14	14	8	2	2	0	2	0	0	0	2	0	2	0	0	3	2	6	0	3	3	6			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:90970998G>A	ENST00000265433.3	-	9	1233	c.1079C>T	c.(1078-1080)aCt>aTt	p.T360I	NBN_ENST00000409330.1_Missense_Mutation_p.T278I	NM_002485.4	NP_002476.2	O60934	NBN_HUMAN	nibrin	360	Interaction with MTOR, MAPKAP1 and RICTOR.				blastocyst growth (GO:0001832)|cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|DNA damage checkpoint (GO:0000077)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|intrinsic apoptotic signaling pathway (GO:0097193)|isotype switching (GO:0045190)|meiotic nuclear division (GO:0007126)|mitotic cell cycle checkpoint (GO:0007093)|mitotic G2 DNA damage checkpoint (GO:0007095)|neuromuscular process controlling balance (GO:0050885)|positive regulation of kinase activity (GO:0033674)|positive regulation of protein autophosphorylation (GO:0031954)|regulation of DNA-dependent DNA replication initiation (GO:0030174)|telomere maintenance (GO:0000723)	Mre11 complex (GO:0030870)|nuclear chromosome, telomeric region (GO:0000784)|nuclear inclusion body (GO:0042405)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|replication fork (GO:0005657)|site of double-strand break (GO:0035861)	damaged DNA binding (GO:0003684)|protein N-terminus binding (GO:0047485)|transcription factor binding (GO:0008134)			autonomic_ganglia(1)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(2)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	27			BRCA - Breast invasive adenocarcinoma(11;0.0344)			GTATGTTGTAGTGTTCACTGG	0.388								Homologous recombination																														ENST00000265433.3																			0				autonomic_ganglia(1)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(2)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	27						c.(1078-1080)aCt>aTt	Homologous recombination	nibrin							239	210	220					8																	90970998		2203	4300	6503	SO:0001583	missense	4683				cell cycle arrest|DNA damage response, signal transduction by p53 class mediator|DNA duplex unwinding|double-strand break repair via homologous recombination|meiosis|mitotic cell cycle G1/S transition checkpoint|mitotic cell cycle G2/M transition DNA damage checkpoint|positive regulation of kinase activity|positive regulation of protein autophosphorylation|regulation of DNA-dependent DNA replication initiation|telomere maintenance	Mre11 complex|nuclear chromosome, telomeric region|nuclear inclusion body|nucleolus|nucleoplasm	protein N-terminus binding|transcription factor binding	g.chr8:90970998G>A	AF058696	CCDS6249.1	8q21-q24	2014-09-17	2005-06-02	2005-06-02	ENSG00000104320	ENSG00000104320			7652	protein-coding gene	gene with protein product		602667	"Nijmegen breakage syndrome 1 (nibrin)"	NBS, NBS1		9590181, 9590180	Standard	XM_005250923		Approved	ATV, AT-V2, AT-V1	uc003yej.1	O60934	OTTHUMG00000153546	ENST00000265433.3:c.1079C>T	8.37:g.90970998G>A	ENSP00000265433:p.Thr360Ile					NBN_ENST00000409330.1_Missense_Mutation_p.T278I	p.T360I	NM_002485.4	NP_002476.2	O60934	NBN_HUMAN	BRCA - Breast invasive adenocarcinoma(11;0.0344)		9	1233	-			360					B2R626|B2RNC5|O60672|Q32NF7|Q53FM6|Q63HR6|Q7LDM2	Missense_Mutation	SNP	ENST00000265433.3	37	c.1079C>T	CCDS6249.1	.	.	.	.	.	.	.	.	.	.	G	0.006	-2.100398	0.00360	.	.	ENSG00000104320	ENST00000265433;ENST00000409330;ENST00000452387	T;T	0.54675	2.02;0.56	5.57	2.32	0.28847	.	0.654480	0.16380	N	0.216933	T	0.22589	0.0545	N	0.10874	0.06	0.09310	N	1	B;B	0.12630	0.006;0.006	B;B	0.06405	0.002;0.002	T	0.22347	-1.0219	10	0.05833	T	0.94	-0.067	2.512	0.04659	0.2766:0.0:0.4907:0.2327	.	360;360	A6H8Y5;O60934	.;NBN_HUMAN	I	360;278;360	ENSP00000265433:T360I;ENSP00000386924:T278I	ENSP00000265433:T360I	T	-	2	0	NBN	91040174	0.004000	0.15560	0.008000	0.14137	0.096000	0.18686	0.327000	0.19663	0.660000	0.30964	0.655000	0.94253	ACT		0.388	NBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331583.3	NM_001024688		57	84	0	0	0	1	0	57	84					A	90970998	G	A	90970998	3	1	435	1	0	0	0	0	1	0	0	0	10191	1029	36	3	1217	3	NBN	8	90970998	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	2085162	90970998	55393024	4062	24987											
NBN	4683	broad.mit.edu	37	chr8	90993094	90993094	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gagacatctaaacaagaagaGcatgcaaccaaaggctcata	19	5	8	9	0	2	3	1	0	1	3	2	4	2	3	1	1	4	3	1	1	7	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:90993094G>A	ENST00000265433.3	-	4	502	c.348C>T	c.(346-348)tgC>tgT	p.C116C	NBN_ENST00000409330.1_Silent_p.C34C	NM_002485.4	NP_002476.2	O60934	NBN_HUMAN	nibrin	116	BRCT.|Mediates interaction with SP100. {ECO:0000250}.				blastocyst growth (GO:0001832)|cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|DNA damage checkpoint (GO:0000077)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|intrinsic apoptotic signaling pathway (GO:0097193)|isotype switching (GO:0045190)|meiotic nuclear division (GO:0007126)|mitotic cell cycle checkpoint (GO:0007093)|mitotic G2 DNA damage checkpoint (GO:0007095)|neuromuscular process controlling balance (GO:0050885)|positive regulation of kinase activity (GO:0033674)|positive regulation of protein autophosphorylation (GO:0031954)|regulation of DNA-dependent DNA replication initiation (GO:0030174)|telomere maintenance (GO:0000723)	Mre11 complex (GO:0030870)|nuclear chromosome, telomeric region (GO:0000784)|nuclear inclusion body (GO:0042405)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|replication fork (GO:0005657)|site of double-strand break (GO:0035861)	damaged DNA binding (GO:0003684)|protein N-terminus binding (GO:0047485)|transcription factor binding (GO:0008134)			autonomic_ganglia(1)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(2)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	27			BRCA - Breast invasive adenocarcinoma(11;0.0344)			AACAAGAAGAGCATGCAACCA	0.343								Homologous recombination																														ENST00000265433.3																			0				autonomic_ganglia(1)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(2)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	27						c.(346-348)tgC>tgT	Homologous recombination	nibrin							91	82	85					8																	90993094		2203	4300	6503	SO:0001819	synonymous_variant	4683				cell cycle arrest|DNA damage response, signal transduction by p53 class mediator|DNA duplex unwinding|double-strand break repair via homologous recombination|meiosis|mitotic cell cycle G1/S transition checkpoint|mitotic cell cycle G2/M transition DNA damage checkpoint|positive regulation of kinase activity|positive regulation of protein autophosphorylation|regulation of DNA-dependent DNA replication initiation|telomere maintenance	Mre11 complex|nuclear chromosome, telomeric region|nuclear inclusion body|nucleolus|nucleoplasm	protein N-terminus binding|transcription factor binding	g.chr8:90993094G>A	AF058696	CCDS6249.1	8q21-q24	2014-09-17	2005-06-02	2005-06-02	ENSG00000104320	ENSG00000104320			7652	protein-coding gene	gene with protein product		602667	"Nijmegen breakage syndrome 1 (nibrin)"	NBS, NBS1		9590181, 9590180	Standard	XM_005250923		Approved	ATV, AT-V2, AT-V1	uc003yej.1	O60934	OTTHUMG00000153546	ENST00000265433.3:c.348C>T	8.37:g.90993094G>A						NBN_ENST00000409330.1_Silent_p.C34C	p.C116C	NM_002485.4	NP_002476.2	O60934	NBN_HUMAN	BRCA - Breast invasive adenocarcinoma(11;0.0344)		4	502	-			116			BRCT.		B2R626|B2RNC5|O60672|Q32NF7|Q53FM6|Q63HR6|Q7LDM2	Silent	SNP	ENST00000265433.3	37	c.348C>T	CCDS6249.1																																																																																				0.343	NBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331583.3	NM_001024688		24	28	0	0	0	1	0	24	28					A	90993094	G	A	90993094	2	1	435	1	0	0	0	0	0	0	0	1	10191	963	34	3		3	NBN	8	90993094	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	22096	90993094	55370928	4063	24988											
TMEM55A	55529	broad.mit.edu	37	chr8	92033484	92033484	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	taatggaaatctccacttacCgtagcttcattgcaaactgt	12	13	6	10	1	2	0	1	0	1	0	3	1	2	1	2	1	4	3	2	1	5	5	rs145247675	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:92033484C>T	ENST00000285419.3	-	2	569	c.255G>A	c.(253-255)acG>acA	p.T85T	GS1-251I9.3_ENST00000517920.1_RNA	NM_018710.2	NP_061180.1	Q8N4L2	TM55A_HUMAN	transmembrane protein 55A	85						endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)	hydrolase activity (GO:0016787)			breast(1)|endometrium(2)|large_intestine(5)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	13			BRCA - Breast invasive adenocarcinoma(11;0.033)			CTCCACTTACCGTAGCTTCAT	0.348													C|||	3	0.000599042	0.0023	0	5008	,	,		17684	0		0	False		,,,				2504	0					ENST00000285419.3																			0				breast(1)|endometrium(2)|large_intestine(5)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	13						c.e2+1		transmembrane protein 55A							88	81	83					8																	92033484		2203	4300	6503	SO:0001630	splice_region_variant	55529					integral to membrane|late endosome membrane|lysosomal membrane	hydrolase activity	g.chr8:92033484C>T	BC033892	CCDS6252.1	8q21.3	2005-08-09			ENSG00000155099	ENSG00000155099			25452	protein-coding gene	gene with protein product		609864				12477932	Standard	NM_018710		Approved	DKFZp762O076	uc003yes.3	Q8N4L2	OTTHUMG00000164019	ENST00000285419.3:c.255+1G>A	8.37:g.92033484C>T							p.T85_splice	NM_018710.2	NP_061180.1	Q8N4L2	TM55A_HUMAN	BRCA - Breast invasive adenocarcinoma(11;0.033)		2	569	-			85					B2R9H4|Q68CU2	Splice_Site	SNP	ENST00000285419.3	37	c.255_splice	CCDS6252.1																																																																																				0.348	TMEM55A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376778.1	NM_018710	Silent	25	65	0	0	0	1	0	25	65					T	92033484	C	T	92033484	5	4	435	1	0	0	0	0	0	0	1	0	16178	666	23	2	542	2	TMEM55A	8	92033484	Splice_Site	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	1040390	92033484	54330538	4064	24989											
SLC26A7	115111	broad.mit.edu	37	chr8	92401619	92401619	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttatttaatcctggattgcAgtggatttaccttttttgac	8	19	8	6	0	0	1	0	1	0	0	1	3	1	3	2	2	2	2	2	2	3	9			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:92401619A>G	ENST00000276609.3	+	16	1968	c.1729A>G	c.(1729-1731)Agt>Ggt	p.S577G	SLC26A7_ENST00000520249.1_3'UTR|SLC26A7_ENST00000523719.1_Missense_Mutation_p.S577G|SLC26A7_ENST00000309536.2_Missense_Mutation_p.S577G	NM_001282356.1|NM_052832.2	NP_001269285.1|NP_439897.1			solute carrier family 26 (anion exchanger), member 7											breast(1)|cervix(1)|endometrium(4)|large_intestine(10)|lung(26)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	50			BRCA - Breast invasive adenocarcinoma(11;0.00802)			CCTGGATTGCAGTGGATTTAC	0.388																																						ENST00000276609.3																			0				breast(1)|cervix(1)|endometrium(4)|large_intestine(10)|lung(26)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	50						c.(1729-1731)Agt>Ggt		solute carrier family 26 (anion exchanger), member 7							347	321	330					8																	92401619		2203	4300	6503	SO:0001583	missense	115111					basolateral plasma membrane|integral to membrane|recycling endosome membrane	anion:anion antiporter activity|bicarbonate transmembrane transporter activity|chloride channel activity|oxalate transmembrane transporter activity|sulfate transmembrane transporter activity	g.chr8:92401619A>G	AF331521	CCDS6254.1, CCDS6255.1, CCDS75765.1	8q23	2013-07-18	2013-07-18		ENSG00000147606	ENSG00000147606		"Solute carriers"	14467	protein-coding gene	gene with protein product		608479	"solute carrier family 26, member 7"			11834742, 11829495, 16524946	Standard	NM_134266		Approved	SUT2	uc003yez.3	Q8TE54	OTTHUMG00000164062	ENST00000276609.3:c.1729A>G	8.37:g.92401619A>G	ENSP00000276609:p.Ser577Gly					SLC26A7_ENST00000309536.2_Missense_Mutation_p.S577G|SLC26A7_ENST00000523719.1_Missense_Mutation_p.S577G|SLC26A7_ENST00000520249.1_3'UTR	p.S577G	NM_052832.2	NP_439897.1	Q8TE54	S26A7_HUMAN	BRCA - Breast invasive adenocarcinoma(11;0.00802)		16	1968	+			577			STAS.			Missense_Mutation	SNP	ENST00000276609.3	37	c.1729A>G	CCDS6254.1	.	.	.	.	.	.	.	.	.	.	A	15.35	2.806398	0.50421	.	.	ENSG00000147606	ENST00000523719;ENST00000276609;ENST00000309536	D;D;D	0.95518	-3.73;-3.73;-3.73	5.62	4.46	0.54185	Sulphate transporter/antisigma-factor antagonist STAS (4);	0.064020	0.64402	D	0.000005	D	0.93700	0.7987	M	0.65975	2.015	0.35509	D	0.800461	P;B	0.35272	0.493;0.324	B;B	0.36504	0.145;0.226	D	0.93501	0.6844	10	0.37606	T	0.19	.	10.8853	0.46964	0.86:0.0:0.0:0.14	.	577;577	Q8TE54-2;Q8TE54	.;S26A7_HUMAN	G	577	ENSP00000428849:S577G;ENSP00000276609:S577G;ENSP00000309504:S577G	ENSP00000276609:S577G	S	+	1	0	SLC26A7	92470795	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.078000	0.50096	0.946000	0.37632	0.460000	0.39030	AGT		0.388	SLC26A7-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377011.1			19	116	0	0	0	1	0	19	116					G	92401619	A	G	92401619	3	3	435	1	0	0	0	0	1	0	0	0	14522	188	7	4	1787	4	SLC26A7	8	92401619	Missense_Mutation	SNP	A	TCGA-XK-AAIW-01A-11D-A41K-08	368135	92401619	53962403	4065	24990											
RUNX1T1	862	broad.mit.edu	37	chr8	92998436	92998436	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acctttttttaagtcctcggCgtcactgtaccgccggatcc	6	13	8	14	4	1	0	1	0	0	0	4	1	3	1	5	2	1	1	5	2	2	5	rs377594753		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:92998436C>T	ENST00000523629.1	-	9	1649	c.1195G>A	c.(1195-1197)Gcc>Acc	p.A399T	RUNX1T1_ENST00000518844.1_Missense_Mutation_p.A372T|RUNX1T1_ENST00000360348.2_Missense_Mutation_p.A362T|RUNX1T1_ENST00000396218.1_Missense_Mutation_p.A372T|RUNX1T1_ENST00000265814.3_Missense_Mutation_p.A399T|RUNX1T1_ENST00000436581.2_Missense_Mutation_p.A410T|RUNX1T1_ENST00000422361.2_Missense_Mutation_p.A362T|RUNX1T1_ENST00000520724.1_Missense_Mutation_p.A362T	NM_001198626.1|NM_001198630.1|NM_001198633.1|NM_175634.2	NP_001185555.1|NP_001185559.1|NP_001185562.1|NP_783552.1	Q06455	MTG8_HUMAN	runt-related transcription factor 1; translocated to, 1 (cyclin D-related)	399					fat cell differentiation (GO:0045444)|generation of precursor metabolites and energy (GO:0006091)|regulation of DNA binding (GO:0051101)|transcription, DNA-templated (GO:0006351)	nuclear matrix (GO:0016363)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	86			BRCA - Breast invasive adenocarcinoma(11;0.0141)			AAGTCCTCGGCGTCACTGTAC	0.517																																						ENST00000523629.1																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	86						c.(1195-1197)Gcc>Acc		runt-related transcription factor 1; translocated to, 1 (cyclin D-related)		C	THR/ALA,THR/ALA,THR/ALA,THR/ALA,THR/ALA,THR/ALA,THR/ALA,THR/ALA,THR/ALA,THR/ALA,THR/ALA,THR/ALA,THR/ALA,THR/ALA,THR/ALA	1,4405	2.1+/-5.4	0,1,2202	105	109	108		1084,1084,1195,1114,1372,1228,1135,1114,1195,1195,1195,1195,1195,1195,1114	5.7	0.8	8		108	0,8600		0,0,4300	no	missense,missense,missense,missense,missense,missense,missense,missense,missense,missense,missense,missense,missense,missense,missense	RUNX1T1	NM_175636.2,NM_175635.2,NM_175634.2,NM_004349.3,NM_001198679.1,NM_001198634.1,NM_001198633.1,NM_001198632.1,NM_001198631.1,NM_001198630.1,NM_001198629.1,NM_001198628.1,NM_001198627.1,NM_001198626.1,NM_001198625.1	58,58,58,58,58,58,58,58,58,58,58,58,58,58,58	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign,benign,benign,benign,benign,benign,benign,benign,benign,benign,benign,benign,benign,benign,benign	362/568,362/568,399/605,372/578,458/664,410/616,379/585,372/578,399/605,399/605,399/605,399/605,399/605,399/605,372/578	92998436	1,13005	2203	4300	6503	SO:0001583	missense	862				generation of precursor metabolites and energy	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:92998436C>T	D43638	CCDS6256.1, CCDS6257.1, CCDS47891.1, CCDS56544.1, CCDS75766.1, CCDS75767.1	8q22	2007-01-29	2005-01-20	2005-01-22	ENSG00000079102	ENSG00000079102		"Zinc fingers, MYND-type"	1535	protein-coding gene	gene with protein product		133435	"core-binding factor, runt domain, alpha subunit 2; translocated to, 1; cyclin D-related"	AML1T1, CBFA2T1		1391946, 9790752	Standard	NM_004349		Approved	CDR, ETO, MTG8, ZMYND2	uc011lgi.2	Q06455	OTTHUMG00000164066	ENST00000523629.1:c.1195G>A	8.37:g.92998436C>T	ENSP00000428543:p.Ala399Thr					RUNX1T1_ENST00000436581.2_Missense_Mutation_p.A410T|RUNX1T1_ENST00000265814.3_Missense_Mutation_p.A399T|RUNX1T1_ENST00000520724.1_Missense_Mutation_p.A362T|RUNX1T1_ENST00000396218.1_Missense_Mutation_p.A372T|RUNX1T1_ENST00000422361.2_Missense_Mutation_p.A362T|RUNX1T1_ENST00000360348.2_Missense_Mutation_p.A362T|RUNX1T1_ENST00000518844.1_Missense_Mutation_p.A372T	p.A399T	NM_001198626.1|NM_001198630.1|NM_001198633.1|NM_175634.2	NP_001185555.1|NP_001185559.1|NP_001185562.1|NP_783552.1	Q06455	MTG8_HUMAN	BRCA - Breast invasive adenocarcinoma(11;0.0141)		9	1649	-			399					B7Z4P4|E7EPN4|O14784|Q06456|Q14873|Q16239|Q16346|Q16347|Q6IBL1|Q6NXH1|Q7Z4J5|Q92479|Q9BRZ0	Missense_Mutation	SNP	ENST00000523629.1	37	c.1195G>A	CCDS6256.1	.	.	.	.	.	.	.	.	.	.	C	20.5	3.996115	0.74703	2.27E-4	0.0	ENSG00000079102	ENST00000523629;ENST00000396218;ENST00000265814;ENST00000360348;ENST00000422361;ENST00000520724;ENST00000436581;ENST00000518844	T;T;T;T;T;T;T;T	0.44881	0.91;0.91;0.91;0.91;0.91;0.91;0.91;0.91	5.67	5.67	0.87782	NHR2-like (1);	0.000000	0.85682	D	0.000000	T	0.40767	0.1130	L	0.44542	1.39	0.80722	D	1	B;B;B	0.31077	0.091;0.178;0.307	B;B;B	0.31245	0.014;0.022;0.126	T	0.15150	-1.0447	10	0.36615	T	0.2	-15.8922	19.773	0.96379	0.0:1.0:0.0:0.0	.	410;399;372	E7EPN4;Q06455;Q06455-2	.;MTG8_HUMAN;.	T	399;372;399;362;362;362;410;372	ENSP00000428543:A399T;ENSP00000379520:A372T;ENSP00000265814:A399T;ENSP00000353504:A362T;ENSP00000390137:A362T;ENSP00000428742:A362T;ENSP00000402257:A410T;ENSP00000430728:A372T	ENSP00000265814:A399T	A	-	1	0	RUNX1T1	93067612	1.000000	0.71417	0.815000	0.32552	0.957000	0.61999	7.487000	0.81328	2.677000	0.91161	0.655000	0.94253	GCC		0.517	RUNX1T1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000377045.3	NM_004349, NM_175635		40	58	0	0	0	1	0	40	58					T	92998436	C	T	92998436	3	4	435	1	0	0	0	0	1	0	0	0	13747	768	27	1	635	1	RUNX1T1	8	92998436	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	596817	92998436	53365586	4066	24991											
RUNX1T1	862	broad.mit.edu	37	chr8	93017486	93017486	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gttctgtttggccagtcttgCgcagtggaggagctcacgct	5	12	14	10	2	3	0	1	0	2	0	3	2	3	2	1	3	2	5	1	3	0	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:93017486C>T	ENST00000523629.1	-	6	1052	c.598G>A	c.(598-600)Gca>Aca	p.A200T	RUNX1T1_ENST00000518844.1_Missense_Mutation_p.A173T|RUNX1T1_ENST00000360348.2_Missense_Mutation_p.A163T|RUNX1T1_ENST00000396218.1_Missense_Mutation_p.A173T|RUNX1T1_ENST00000265814.3_Missense_Mutation_p.A200T|RUNX1T1_ENST00000436581.2_Missense_Mutation_p.A211T|RUNX1T1_ENST00000422361.2_Missense_Mutation_p.A163T|RUNX1T1_ENST00000521553.1_Missense_Mutation_p.A163T|RUNX1T1_ENST00000520724.1_Missense_Mutation_p.A163T	NM_001198626.1|NM_001198630.1|NM_001198633.1|NM_175634.2	NP_001185555.1|NP_001185559.1|NP_001185562.1|NP_783552.1	Q06455	MTG8_HUMAN	runt-related transcription factor 1; translocated to, 1 (cyclin D-related)	200	TAFH. {ECO:0000255|PROSITE- ProRule:PRU00440}.				fat cell differentiation (GO:0045444)|generation of precursor metabolites and energy (GO:0006091)|regulation of DNA binding (GO:0051101)|transcription, DNA-templated (GO:0006351)	nuclear matrix (GO:0016363)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.A211S(1)|p.A200S(1)|p.A163S(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	86			BRCA - Breast invasive adenocarcinoma(11;0.0141)			GCCAGTCTTGCGCAGTGGAGG	0.562																																						ENST00000523629.1																			3	Substitution - Missense(3)	p.A211S(1)|p.A200S(1)|p.A163S(1)	lung(3)	NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	86						c.(598-600)Gca>Aca		runt-related transcription factor 1; translocated to, 1 (cyclin D-related)							137	108	118					8																	93017486		2203	4300	6503	SO:0001583	missense	862				generation of precursor metabolites and energy	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:93017486C>T	D43638	CCDS6256.1, CCDS6257.1, CCDS47891.1, CCDS56544.1, CCDS75766.1, CCDS75767.1	8q22	2007-01-29	2005-01-20	2005-01-22	ENSG00000079102	ENSG00000079102		"Zinc fingers, MYND-type"	1535	protein-coding gene	gene with protein product		133435	"core-binding factor, runt domain, alpha subunit 2; translocated to, 1; cyclin D-related"	AML1T1, CBFA2T1		1391946, 9790752	Standard	NM_004349		Approved	CDR, ETO, MTG8, ZMYND2	uc011lgi.2	Q06455	OTTHUMG00000164066	ENST00000523629.1:c.598G>A	8.37:g.93017486C>T	ENSP00000428543:p.Ala200Thr					RUNX1T1_ENST00000436581.2_Missense_Mutation_p.A211T|RUNX1T1_ENST00000265814.3_Missense_Mutation_p.A200T|RUNX1T1_ENST00000520724.1_Missense_Mutation_p.A163T|RUNX1T1_ENST00000396218.1_Missense_Mutation_p.A173T|RUNX1T1_ENST00000422361.2_Missense_Mutation_p.A163T|RUNX1T1_ENST00000360348.2_Missense_Mutation_p.A163T|RUNX1T1_ENST00000521553.1_Missense_Mutation_p.A163T|RUNX1T1_ENST00000518844.1_Missense_Mutation_p.A173T	p.A200T	NM_001198626.1|NM_001198630.1|NM_001198633.1|NM_175634.2	NP_001185555.1|NP_001185559.1|NP_001185562.1|NP_783552.1	Q06455	MTG8_HUMAN	BRCA - Breast invasive adenocarcinoma(11;0.0141)		6	1052	-			200			TAFH.		B7Z4P4|E7EPN4|O14784|Q06456|Q14873|Q16239|Q16346|Q16347|Q6IBL1|Q6NXH1|Q7Z4J5|Q92479|Q9BRZ0	Missense_Mutation	SNP	ENST00000523629.1	37	c.598G>A	CCDS6256.1	.	.	.	.	.	.	.	.	.	.	C	36	5.616983	0.96649	.	.	ENSG00000079102	ENST00000523629;ENST00000396218;ENST00000265814;ENST00000360348;ENST00000422361;ENST00000520724;ENST00000436581;ENST00000518844;ENST00000521553;ENST00000518992;ENST00000521054	T;T;T;T;T;T;T;T;T;T;T	0.43688	0.94;0.94;0.94;0.94;0.94;0.94;0.94;0.94;0.94;0.94;0.94	5.67	5.67	0.87782	TAFH/NHR1 (3);	0.000000	0.85682	D	0.000000	T	0.66509	0.2796	M	0.73962	2.25	0.80722	D	1	D;D;D	0.76494	0.979;0.995;0.999	P;D;D	0.68943	0.762;0.932;0.961	T	0.68887	-0.5290	10	0.87932	D	0	-12.2585	19.7501	0.96265	0.0:1.0:0.0:0.0	.	211;200;173	E7EPN4;Q06455;Q06455-2	.;MTG8_HUMAN;.	T	200;173;200;163;163;163;211;173;163;200;163	ENSP00000428543:A200T;ENSP00000379520:A173T;ENSP00000265814:A200T;ENSP00000353504:A163T;ENSP00000390137:A163T;ENSP00000428742:A163T;ENSP00000402257:A211T;ENSP00000430728:A173T;ENSP00000429728:A163T;ENSP00000431094:A200T;ENSP00000427763:A163T	ENSP00000265814:A200T	A	-	1	0	RUNX1T1	93086662	1.000000	0.71417	0.998000	0.56505	0.999000	0.98932	7.818000	0.86416	2.672000	0.90937	0.655000	0.94253	GCA		0.562	RUNX1T1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000377045.3	NM_004349, NM_175635		14	19	0	0	0	1	0	14	19					T	93017486	C	T	93017486	3	4	435	1	0	0	0	0	1	0	0	0	13747	768	27	1	1244	1	RUNX1T1	8	93017486	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	19050	93017486	53346536	4067	24992											
RUNX1T1	862	broad.mit.edu	37	chr8	93026864	93026864	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atctcgggtgaaatgtcattGccaaactgctgcagggtagt	10	11	12	8	1	2	1	1	1	1	0	3	1	2	1	1	2	4	3	1	2	3	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:93026864G>A	ENST00000523629.1	-	4	865	c.411C>T	c.(409-411)ggC>ggT	p.G137G	RUNX1T1_ENST00000518844.1_Silent_p.G110G|RUNX1T1_ENST00000360348.2_Silent_p.G100G|RUNX1T1_ENST00000396218.1_Silent_p.G110G|RUNX1T1_ENST00000265814.3_Silent_p.G137G|RUNX1T1_ENST00000436581.2_Silent_p.G148G|RUNX1T1_ENST00000522163.1_5'Flank|RUNX1T1_ENST00000422361.2_Silent_p.G100G|RUNX1T1_ENST00000521553.1_Silent_p.G100G|RUNX1T1_ENST00000520724.1_Silent_p.G100G	NM_001198626.1|NM_001198630.1|NM_001198633.1|NM_175634.2	NP_001185555.1|NP_001185559.1|NP_001185562.1|NP_783552.1	Q06455	MTG8_HUMAN	runt-related transcription factor 1; translocated to, 1 (cyclin D-related)	137	TAFH. {ECO:0000255|PROSITE- ProRule:PRU00440}.				fat cell differentiation (GO:0045444)|generation of precursor metabolites and energy (GO:0006091)|regulation of DNA binding (GO:0051101)|transcription, DNA-templated (GO:0006351)	nuclear matrix (GO:0016363)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	86			BRCA - Breast invasive adenocarcinoma(11;0.0141)			AAATGTCATTGCCAAACTGCT	0.512																																						ENST00000523629.1																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	86						c.(409-411)ggC>ggT		runt-related transcription factor 1; translocated to, 1 (cyclin D-related)							111	105	107					8																	93026864		2203	4300	6503	SO:0001819	synonymous_variant	862				generation of precursor metabolites and energy	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:93026864G>A	D43638	CCDS6256.1, CCDS6257.1, CCDS47891.1, CCDS56544.1, CCDS75766.1, CCDS75767.1	8q22	2007-01-29	2005-01-20	2005-01-22	ENSG00000079102	ENSG00000079102		"Zinc fingers, MYND-type"	1535	protein-coding gene	gene with protein product		133435	"core-binding factor, runt domain, alpha subunit 2; translocated to, 1; cyclin D-related"	AML1T1, CBFA2T1		1391946, 9790752	Standard	NM_004349		Approved	CDR, ETO, MTG8, ZMYND2	uc011lgi.2	Q06455	OTTHUMG00000164066	ENST00000523629.1:c.411C>T	8.37:g.93026864G>A						RUNX1T1_ENST00000436581.2_Silent_p.G148G|RUNX1T1_ENST00000265814.3_Silent_p.G137G|RUNX1T1_ENST00000520724.1_Silent_p.G100G|RUNX1T1_ENST00000396218.1_Silent_p.G110G|RUNX1T1_ENST00000422361.2_Silent_p.G100G|RUNX1T1_ENST00000360348.2_Silent_p.G100G|RUNX1T1_ENST00000521553.1_Silent_p.G100G|RUNX1T1_ENST00000518844.1_Silent_p.G110G	p.G137G	NM_001198626.1|NM_001198630.1|NM_001198633.1|NM_175634.2	NP_001185555.1|NP_001185559.1|NP_001185562.1|NP_783552.1	Q06455	MTG8_HUMAN	BRCA - Breast invasive adenocarcinoma(11;0.0141)		4	865	-			137			TAFH.		B7Z4P4|E7EPN4|O14784|Q06456|Q14873|Q16239|Q16346|Q16347|Q6IBL1|Q6NXH1|Q7Z4J5|Q92479|Q9BRZ0	Silent	SNP	ENST00000523629.1	37	c.411C>T	CCDS6256.1																																																																																				0.512	RUNX1T1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000377045.3	NM_004349, NM_175635		8	58	0	0	0	1	0	8	58					A	93026864	G	A	93026864	2	1	435	1	0	0	0	0	0	0	0	1	13747	1306	46	3		3	RUNX1T1	8	93026864	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	9378	93026864	53337158	4068	24993											
RBM12B	389677	broad.mit.edu	37	chr8	94748478	94748478	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgaacgacttatggcacgtCttgcatcttcatctgttgca	8	14	8	11	2	4	1	1	1	3	0	4	2	4	1	0	1	3	4	0	1	2	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:94748478C>A	ENST00000399300.2	-	3	374	c.161G>T	c.(160-162)aGa>aTa	p.R54I	RP11-10N23.4_ENST00000517998.1_RNA|RBM12B_ENST00000517700.1_Missense_Mutation_p.R54I|RBM12B_ENST00000520961.1_Intron	NM_203390.2	NP_976324.2	Q8IXT5	RB12B_HUMAN	RNA binding motif protein 12B	54							nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	30	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.0168)			TATGGCACGTCTTGCATCTTC	0.408																																						ENST00000399300.2																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	30						c.(160-162)aGa>aTa		RNA binding motif protein 12B							137	129	131					8																	94748478		1816	4096	5912	SO:0001583	missense	389677						nucleotide binding|RNA binding	g.chr8:94748478C>A		CCDS43755.1	8q22	2014-05-20			ENSG00000183808	ENSG00000183808		"RNA binding motif (RRM) containing"	32310	protein-coding gene	gene with protein product							Standard	NM_203390		Approved		uc003yfz.3	Q8IXT5	OTTHUMG00000164317	ENST00000399300.2:c.161G>T	8.37:g.94748478C>A	ENSP00000382239:p.Arg54Ile					RBM12B_ENST00000520961.1_Intron|RBM12B_ENST00000517700.1_Missense_Mutation_p.R54I	p.R54I	NM_203390.2	NP_976324.2	Q8IXT5	RB12B_HUMAN	BRCA - Breast invasive adenocarcinoma(8;0.0168)		3	374	-	Breast(36;4.14e-07)		54					A8MYB5	Missense_Mutation	SNP	ENST00000399300.2	37	c.161G>T	CCDS43755.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.079256	0.76528	.	.	ENSG00000183808	ENST00000399300;ENST00000517700;ENST00000519109;ENST00000518597;ENST00000520560;ENST00000521947	T;T;T;T;T;T	0.15256	3.04;3.04;2.44;2.44;3.04;3.04	5.71	5.71	0.89125	Nucleotide-binding, alpha-beta plait (1);	0.000000	0.64402	D	0.000013	T	0.44953	0.1318	M	0.72894	2.215	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.32903	-0.9889	10	0.87932	D	0	-17.9798	19.4609	0.94916	0.0:1.0:0.0:0.0	.	54	Q8IXT5	RB12B_HUMAN	I	54	ENSP00000382239:R54I;ENSP00000427729:R54I;ENSP00000430474:R54I;ENSP00000428269:R54I;ENSP00000429807:R54I;ENSP00000430466:R54I	ENSP00000382239:R54I	R	-	2	0	RBM12B	94817654	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.763000	0.68818	2.688000	0.91661	0.655000	0.94253	AGA		0.408	RBM12B-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383603.1	NM_203390		40	66	1	0	1.47244e-24	1	1.64277e-24	40	66					A	94748478	C	A	94748478	3	1	435	1	0	0	0	0	1	0	0	0	13114	913	32	5	2848	5	RBM12B	8	94748478	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	1721614	94748478	51615544	4069	24994											
TMEM67	91147	broad.mit.edu	37	chr8	94811976	94811976	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tgctctttggctagccattgGaattatacaggtaaggaatt	11	14	10	6	0	1	0	0	0	1	0	1	2	1	2	1	4	3	3	1	4	6	7			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:94811976G>A	ENST00000453321.3	+	21	2289	c.2231G>A	c.(2230-2232)gGa>gAa	p.G744E	TMEM67_ENST00000409623.3_Missense_Mutation_p.G663E	NM_153704.5	NP_714915.3	Q5HYA8	MKS3_HUMAN	transmembrane protein 67	744					cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|negative regulation of centrosome duplication (GO:0010826)	centrosome (GO:0005813)|ciliary membrane (GO:0060170)|cytoplasmic vesicle membrane (GO:0030659)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|TCTN-B9D complex (GO:0036038)	filamin binding (GO:0031005)|unfolded protein binding (GO:0051082)			breast(3)|endometrium(8)|kidney(5)|large_intestine(4)|liver(2)|lung(15)|ovary(2)|skin(1)|urinary_tract(1)	41	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.00896)			CTAGCCATTGGAATTATACAG	0.363																																						ENST00000453321.3																			0				breast(3)|endometrium(8)|kidney(5)|large_intestine(4)|liver(2)|lung(15)|ovary(2)|skin(1)|urinary_tract(1)	41						c.(2230-2232)gGa>gAa		transmembrane protein 67							117	112	114					8																	94811976		2203	4300	6503	SO:0001583	missense	91147				cilium assembly|ER-associated protein catabolic process|negative regulation of centrosome duplication	centrosome|cilium membrane|cytoplasmic vesicle membrane|endoplasmic reticulum membrane|integral to membrane|microtubule basal body	unfolded protein binding	g.chr8:94811976G>A	BX648768	CCDS6258.2, CCDS47893.1	8q22.1	2014-09-17			ENSG00000164953	ENSG00000164953			28396	protein-coding gene	gene with protein product	"Meckelin"	609884	"Meckel syndrome, type 3"	MKS3		12384791, 16415887, 19508969	Standard	NM_153704		Approved	MGC26979, JBTS6, NPHP11	uc011lgk.2	Q5HYA8	OTTHUMG00000153119	ENST00000453321.3:c.2231G>A	8.37:g.94811976G>A	ENSP00000389998:p.Gly744Glu					TMEM67_ENST00000409623.3_Missense_Mutation_p.G663E	p.G744E	NM_153704.5	NP_714915.3	Q5HYA8	MKS3_HUMAN	BRCA - Breast invasive adenocarcinoma(8;0.00896)		21	2289	+	Breast(36;4.14e-07)		744					B3KRU5|B3KT47|G5E9H2|Q3ZCX3|Q7Z5T8|Q8IZ06	Missense_Mutation	SNP	ENST00000453321.3	37	c.2231G>A	CCDS6258.2	.	.	.	.	.	.	.	.	.	.	G	13.32	2.201389	0.38905	.	.	ENSG00000164953	ENST00000453321;ENST00000409623	D;D	0.97114	-4.25;-4.25	5.51	3.59	0.41128	.	0.052740	0.85682	D	0.000000	D	0.95909	0.8668	L	0.53249	1.67	0.58432	D	0.999993	P;P;P	0.47604	0.801;0.898;0.876	B;P;B	0.47346	0.435;0.544;0.409	D	0.94838	0.8002	10	0.41790	T	0.15	-10.5498	13.5987	0.62007	0.0:0.4612:0.5388:0.0	.	744;663;663	Q5HYA8;B3KRU5;G5E9H2	MKS3_HUMAN;.;.	E	744;663	ENSP00000389998:G744E;ENSP00000386966:G663E	ENSP00000314488:G734E	G	+	2	0	TMEM67	94881152	0.999000	0.42202	0.929000	0.37066	0.991000	0.79684	3.050000	0.49877	1.314000	0.45095	0.637000	0.83480	GGA		0.363	TMEM67-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329641.2	NM_153704		26	46	0	0	0	1	0	26	46					A	94811976	G	A	94811976	3	1	435	1	0	0	0	0	1	0	0	0	16193	1174	41	3	2451	3	TMEM67	8	94811976	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	63498	94811976	51552046	4070	24995											
KIAA1429	25962	broad.mit.edu	37	chr8	95522015	95522015	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	accaaagctaaaagatcctgGaatatctctgcatatctttc	14	12	5	10	0	2	1	0	0	2	1	5	2	3	2	2	1	2	2	2	1	6	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:95522015G>A	ENST00000297591.5	-	15	3855	c.3780C>T	c.(3778-3780)ttC>ttT	p.F1260F	KIAA1429_ENST00000523405.1_5'UTR|KIAA1429_ENST00000437199.1_Silent_p.F1260F	NM_015496.4	NP_056311.2	Q69YN4	VIR_HUMAN	KIAA1429	1260					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(16)|lung(28)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	66	Breast(36;3.29e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00185)			AAAGATCCTGGAATATCTCTG	0.398																																						ENST00000297591.5																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(16)|lung(28)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	66						c.(3778-3780)ttC>ttT		KIAA1429							96	95	95					8																	95522015		2203	4300	6503	SO:0001819	synonymous_variant	25962				mRNA processing|RNA splicing	nucleus		g.chr8:95522015G>A	AB037850	CCDS34923.1, CCDS47894.1	8q22.1	2008-11-25			ENSG00000164944	ENSG00000164944			24500	protein-coding gene	gene with protein product	"functional spliceosome-associated protein 121"					10718198	Standard	NM_015496		Approved	DKFZP434I116, fSAP121	uc003ygo.2	Q69YN4	OTTHUMG00000164426	ENST00000297591.5:c.3780C>T	8.37:g.95522015G>A						KIAA1429_ENST00000437199.1_Silent_p.F1260F|KIAA1429_ENST00000523405.1_5'UTR	p.F1260F	NM_015496.4	NP_056311.2	Q69YN4	VIR_HUMAN	BRCA - Breast invasive adenocarcinoma(8;0.00185)		15	3855	-	Breast(36;3.29e-05)		1260					Q2M1N0|Q6AHX9|Q6NT78|Q7Z6C7|Q8IXH4|Q9BTH4|Q9H9C9|Q9NWR3|Q9P2B8|Q9UFW1	Silent	SNP	ENST00000297591.5	37	c.3780C>T	CCDS34923.1																																																																																				0.398	KIAA1429-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378720.2	NM_015496		23	30	0	0	0	1	0	23	30					A	95522015	G	A	95522015	2	1	435	1	0	0	0	0	0	0	0	1	8231	1165	41	3		3	KIAA1429	8	95522015	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	710039	95522015	50842007	4071	24996											
KIAA1429	25962	broad.mit.edu	37	chr8	95539163	95539163	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tacttgtaaatttaaagcttGcatggtccagtctaccaact	12	14	6	9	0	1	0	0	0	1	0	2	0	2	0	2	1	5	3	2	1	7	7			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:95539163G>A	ENST00000297591.5	-	8	1384	c.1309C>T	c.(1309-1311)Caa>Taa	p.Q437*	KIAA1429_ENST00000421249.2_Nonsense_Mutation_p.Q437*|KIAA1429_ENST00000437199.1_Nonsense_Mutation_p.Q437*	NM_015496.4	NP_056311.2	Q69YN4	VIR_HUMAN	KIAA1429	437					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(16)|lung(28)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	66	Breast(36;3.29e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00185)			TTTAAAGCTTGCATGGTCCAG	0.398																																						ENST00000297591.5																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(16)|lung(28)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	66						c.(1309-1311)Caa>Taa		KIAA1429							102	100	100					8																	95539163		2203	4300	6503	SO:0001587	stop_gained	25962				mRNA processing|RNA splicing	nucleus		g.chr8:95539163G>A	AB037850	CCDS34923.1, CCDS47894.1	8q22.1	2008-11-25			ENSG00000164944	ENSG00000164944			24500	protein-coding gene	gene with protein product	"functional spliceosome-associated protein 121"					10718198	Standard	NM_015496		Approved	DKFZP434I116, fSAP121	uc003ygo.2	Q69YN4	OTTHUMG00000164426	ENST00000297591.5:c.1309C>T	8.37:g.95539163G>A	ENSP00000297591:p.Gln437*					KIAA1429_ENST00000421249.2_Nonsense_Mutation_p.Q437*|KIAA1429_ENST00000437199.1_Nonsense_Mutation_p.Q437*	p.Q437*	NM_015496.4	NP_056311.2	Q69YN4	VIR_HUMAN	BRCA - Breast invasive adenocarcinoma(8;0.00185)		8	1384	-	Breast(36;3.29e-05)		437					Q2M1N0|Q6AHX9|Q6NT78|Q7Z6C7|Q8IXH4|Q9BTH4|Q9H9C9|Q9NWR3|Q9P2B8|Q9UFW1	Nonsense_Mutation	SNP	ENST00000297591.5	37	c.1309C>T	CCDS34923.1	.	.	.	.	.	.	.	.	.	.	G	38	6.869244	0.97897	.	.	ENSG00000164944	ENST00000297591;ENST00000437199;ENST00000421249	.	.	.	5.85	5.85	0.93711	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.28530	T	0.3	-14.9716	20.1588	0.98128	0.0:0.0:1.0:0.0	.	.	.	.	X	437	.	ENSP00000297591:Q437X	Q	-	1	0	KIAA1429	95608339	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.310000	0.78947	2.770000	0.95276	0.563000	0.77884	CAA		0.398	KIAA1429-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378720.2	NM_015496		39	75	0	0	0	1	0	39	75					A	95539163	G	A	95539163	4	1	435	1	0	0	0	0	0	1	0	0	8231	1328	46	3	4251	3	KIAA1429	8	95539163	Nonsense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	17148	95539163	50824859	4072	24997											
INTS8	55656	broad.mit.edu	37	chr8	95839603	95839603	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccactttacctccgaccactGccatggctgtacttctctat	7	13	5	16	1	1	0	0	0	1	0	3	1	2	0	5	1	3	2	5	1	3	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:95839603G>A	ENST00000523731.1	+	3	551	c.418G>A	c.(418-420)Gcc>Acc	p.A140T	INTS8_ENST00000447247.1_Missense_Mutation_p.A140T	NM_017864.2	NP_060334.2	Q75QN2	INT8_HUMAN	integrator complex subunit 8	140					snRNA processing (GO:0016180)	integrator complex (GO:0032039)				breast(3)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	28	Breast(36;1.05e-06)					TCCGACCACTGCCATGGCTGT	0.413																																						ENST00000523731.1																			0				breast(3)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	28						c.(418-420)Gcc>Acc		integrator complex subunit 8							157	151	153					8																	95839603		2203	4300	6503	SO:0001583	missense	55656				snRNA processing	integrator complex	protein binding	g.chr8:95839603G>A	AK091278	CCDS34925.1	8q22.1	2007-05-03	2006-03-15	2006-03-15	ENSG00000164941	ENSG00000164941			26048	protein-coding gene	gene with protein product		611351	"chromosome 8 open reading frame 52"	C8orf52		16239144	Standard	NM_017864		Approved	FLJ20530, INT8, MGC131633	uc003yhb.4	Q75QN2	OTTHUMG00000164695	ENST00000523731.1:c.418G>A	8.37:g.95839603G>A	ENSP00000430338:p.Ala140Thr					INTS8_ENST00000447247.1_Missense_Mutation_p.A140T	p.A140T	NM_017864.2	NP_060334.2	Q75QN2	INT8_HUMAN			3	551	+	Breast(36;1.05e-06)		140					B2RN92|Q5RKZ3|Q6P1R5|Q7Z314|Q9NVS6|Q9NWY7	Missense_Mutation	SNP	ENST00000523731.1	37	c.418G>A	CCDS34925.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.84|17.84	3.487320|3.487320	0.63962|0.63962	.|.	.|.	ENSG00000164941|ENSG00000164941	ENST00000522171;ENST00000519053;ENST00000523731;ENST00000447247|ENST00000521860	.|.	.|.	.|.	6.17|6.17	5.29|5.29	0.74685|0.74685	.|.	0.091701|.	0.85682|.	D|.	0.000000|.	T|T	0.59088|0.59088	0.2168|0.2168	L|L	0.38531|0.38531	1.155|1.155	0.58432|0.58432	D|D	0.999996|0.999996	B;B|.	0.10296|.	0.001;0.003|.	B;B|.	0.09377|.	0.004;0.004|.	T|T	0.51795|0.51795	-0.8660|-0.8660	9|5	0.24483|.	T|.	0.36|.	-5.1953|-5.1953	15.8758|15.8758	0.79159|0.79159	0.0652:0.0:0.9348:0.0|0.0652:0.0:0.9348:0.0	.|.	140;140|.	Q75QN2;Q75QN2-2|.	INT8_HUMAN;.|.	T|Y	99;31;140;140|127	.|.	ENSP00000343274:A140T|.	A|C	+|+	1|2	0|0	INTS8|INTS8	95908779|95908779	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.990000|0.990000	0.78478|0.78478	4.610000|4.610000	0.61155|0.61155	2.941000|2.941000	0.99782|0.99782	0.655000|0.655000	0.94253|0.94253	GCC|TGC		0.413	INTS8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379794.1	NM_017864		53	98	0	0	0	1	0	53	98					A	95839603	G	A	95839603	3	1	435	1	0	0	0	0	1	0	0	0	7784	1319	46	3	428	3	INTS8	8	95839603	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	300440	95839603	50524419	4073	24998											
INTS8	55656	broad.mit.edu	37	chr8	95869126	95869126	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggatattcatacacacgaagCtgggacagggcaggcaggag	13	5	15	8	1	1	0	1	0	0	0	1	4	1	3	0	5	2	3	0	5	3	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:95869126C>T	ENST00000523731.1	+	15	2007	c.1874C>T	c.(1873-1875)gCt>gTt	p.A625V	INTS8_ENST00000520845.1_3'UTR|INTS8_ENST00000447247.1_Missense_Mutation_p.A625V	NM_017864.2	NP_060334.2	Q75QN2	INT8_HUMAN	integrator complex subunit 8	625					snRNA processing (GO:0016180)	integrator complex (GO:0032039)				breast(3)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	28	Breast(36;1.05e-06)					ACACACGAAGCTGGGACAGGG	0.483																																						ENST00000523731.1																			0				breast(3)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	28						c.(1873-1875)gCt>gTt		integrator complex subunit 8							126	117	120					8																	95869126		2203	4300	6503	SO:0001583	missense	55656				snRNA processing	integrator complex	protein binding	g.chr8:95869126C>T	AK091278	CCDS34925.1	8q22.1	2007-05-03	2006-03-15	2006-03-15	ENSG00000164941	ENSG00000164941			26048	protein-coding gene	gene with protein product		611351	"chromosome 8 open reading frame 52"	C8orf52		16239144	Standard	NM_017864		Approved	FLJ20530, INT8, MGC131633	uc003yhb.4	Q75QN2	OTTHUMG00000164695	ENST00000523731.1:c.1874C>T	8.37:g.95869126C>T	ENSP00000430338:p.Ala625Val					INTS8_ENST00000447247.1_Missense_Mutation_p.A625V|INTS8_ENST00000520845.1_3'UTR	p.A625V	NM_017864.2	NP_060334.2	Q75QN2	INT8_HUMAN			15	2007	+	Breast(36;1.05e-06)		625					B2RN92|Q5RKZ3|Q6P1R5|Q7Z314|Q9NVS6|Q9NWY7	Missense_Mutation	SNP	ENST00000523731.1	37	c.1874C>T	CCDS34925.1	.	.	.	.	.	.	.	.	.	.	C	15.87	2.960209	0.53400	.	.	ENSG00000164941	ENST00000523731;ENST00000447247	.	.	.	5.51	4.64	0.57946	.	0.210963	0.49305	D	0.000155	T	0.41719	0.1171	N	0.19112	0.55	0.43942	D	0.996609	B;B	0.11235	0.004;0.003	B;B	0.14023	0.003;0.01	T	0.22173	-1.0224	9	0.16420	T	0.52	-29.0252	14.7495	0.69513	0.0:0.9302:0.0:0.0698	.	625;625	Q75QN2;Q75QN2-2	INT8_HUMAN;.	V	625	.	ENSP00000343274:A625V	A	+	2	0	INTS8	95938302	1.000000	0.71417	0.988000	0.46212	0.921000	0.55340	4.342000	0.59341	1.471000	0.48121	0.655000	0.94253	GCT		0.483	INTS8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379794.1	NM_017864		42	42	0	0	0	1	0	42	42					T	95869126	C	T	95869126	3	4	435	1	0	0	0	0	1	0	0	0	7784	797	28	3	1932	3	INTS8	8	95869126	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	29523	95869126	50494896	4074	24999											
C8orf38	137682	broad.mit.edu	37	chr8	96047721	96047721	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agaaaacaattggactgatgCgaatgcagttttggaaaaaa	18	9	10	4	1	0	2	0	1	0	1	0	5	0	4	0	2	3	2	0	2	7	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:96047721C>T	ENST00000396124.4	+	3	360	c.337C>T	c.(337-339)Cga>Tga	p.R113*	NDUFAF6_ENST00000542894.1_Nonsense_Mutation_p.R61*|NDUFAF6_ENST00000286687.4_5'UTR|NDUFAF6_ENST00000396111.2_Nonsense_Mutation_p.R21*|NDUFAF6_ENST00000396113.1_Nonsense_Mutation_p.R21*	NM_152416.3	NP_689629.2	Q330K2	NDUF6_HUMAN	NADH dehydrogenase (ubiquinone) complex I, assembly factor 6	113					biosynthetic process (GO:0009058)|mitochondrial respiratory chain complex I assembly (GO:0032981)	cytoplasm (GO:0005737)|mitochondrial inner membrane (GO:0005743)|nucleus (GO:0005634)	transferase activity (GO:0016740)										TGGACTGATGCGAATGCAGTT	0.343																																						ENST00000396113.1																			0											c.(61-63)Cga>Tga		NADH dehydrogenase (ubiquinone) complex I, assembly factor 6							63	63	63					8																	96047721		1829	4077	5906	SO:0001587	stop_gained	137682				biosynthetic process	mitochondrion	transferase activity	g.chr8:96047721C>T	BC028166	CCDS6266.2	8q22.1	2013-10-21	2012-05-08	2012-05-08	ENSG00000156170	ENSG00000156170		"Mitochondrial respiratory chain complex assembly factors"	28625	protein-coding gene	gene with protein product		612392	"chromosome 8 open reading frame 38"	C8orf38		22019594, 23509070	Standard	NM_152416		Approved	MGC40214	uc003yhj.3	Q330K2	OTTHUMG00000150173	ENST00000396124.4:c.337C>T	8.37:g.96047721C>T	ENSP00000379430:p.Arg113*					NDUFAF6_ENST00000396111.2_Nonsense_Mutation_p.R21*|NDUFAF6_ENST00000396124.4_Nonsense_Mutation_p.R113*|NDUFAF6_ENST00000286687.4_5'UTR|NDUFAF6_ENST00000542894.1_Nonsense_Mutation_p.R61*	p.R21*			Q330K2	CH038_HUMAN			9	1111	+			113					A8MT28|A8MWF0|B4DQ45|Q8N6U6	Nonsense_Mutation	SNP	ENST00000396124.4	37	c.61C>T	CCDS6266.2	.	.	.	.	.	.	.	.	.	.	C	26.0	4.694066	0.88735	.	.	ENSG00000156170	ENST00000523378;ENST00000396113;ENST00000396111;ENST00000519136;ENST00000542894;ENST00000396124;ENST00000519804	.	.	.	5.5	3.7	0.42460	.	0.128567	0.56097	D	0.000038	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-29.1291	8.2905	0.31954	0.2756:0.6498:0.0:0.0746	.	.	.	.	X	21;21;21;2;61;113;2	.	ENSP00000379417:R21X	R	+	1	2	C8orf38	96116897	1.000000	0.71417	1.000000	0.80357	0.910000	0.53928	2.007000	0.40883	0.693000	0.31634	0.591000	0.81541	CGA		0.343	NDUFAF6-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316700.2	NM_152416		23	43	0	0	0	1	0	23	43					T	96047721	C	T	96047721	4	4	435	1	0	0	0	0	0	1	0	0	2424	760	27	1	347	1	C8orf38	8	96047721	Nonsense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	178595	96047721	50316301	4075	25000											
C8orf38	137682	broad.mit.edu	37	chr8	96059229	96059229	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tctgaaatcataggtataaaGgatcttcatgcagatcatgc	14	12	8	7	0	5	2	3	1	2	1	5	3	5	3	0	2	2	2	0	2	5	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:96059229G>T	ENST00000396124.4	+	6	611	c.588G>T	c.(586-588)aaG>aaT	p.K196N	NDUFAF6_ENST00000542894.1_Missense_Mutation_p.K144N|NDUFAF6_ENST00000286687.4_Missense_Mutation_p.K44N|NDUFAF6_ENST00000396111.2_Missense_Mutation_p.K104N|NDUFAF6_ENST00000396113.1_Missense_Mutation_p.K104N	NM_152416.3	NP_689629.2	Q330K2	NDUF6_HUMAN	NADH dehydrogenase (ubiquinone) complex I, assembly factor 6	196					biosynthetic process (GO:0009058)|mitochondrial respiratory chain complex I assembly (GO:0032981)	cytoplasm (GO:0005737)|mitochondrial inner membrane (GO:0005743)|nucleus (GO:0005634)	transferase activity (GO:0016740)										TAGGTATAAAGGATCTTCATG	0.368																																						ENST00000396113.1																			0											c.(310-312)aaG>aaT		NADH dehydrogenase (ubiquinone) complex I, assembly factor 6							110	97	101					8																	96059229		1874	4116	5990	SO:0001583	missense	137682				biosynthetic process	mitochondrion	transferase activity	g.chr8:96059229G>T	BC028166	CCDS6266.2	8q22.1	2013-10-21	2012-05-08	2012-05-08	ENSG00000156170	ENSG00000156170		"Mitochondrial respiratory chain complex assembly factors"	28625	protein-coding gene	gene with protein product		612392	"chromosome 8 open reading frame 38"	C8orf38		22019594, 23509070	Standard	NM_152416		Approved	MGC40214	uc003yhj.3	Q330K2	OTTHUMG00000150173	ENST00000396124.4:c.588G>T	8.37:g.96059229G>T	ENSP00000379430:p.Lys196Asn					NDUFAF6_ENST00000396111.2_Missense_Mutation_p.K104N|NDUFAF6_ENST00000396124.4_Missense_Mutation_p.K196N|NDUFAF6_ENST00000286687.4_Missense_Mutation_p.K44N|NDUFAF6_ENST00000542894.1_Missense_Mutation_p.K144N	p.K104N			Q330K2	CH038_HUMAN			12	1362	+			196					A8MT28|A8MWF0|B4DQ45|Q8N6U6	Missense_Mutation	SNP	ENST00000396124.4	37	c.312G>T	CCDS6266.2	.	.	.	.	.	.	.	.	.	.	G	14.72	2.618985	0.46736	.	.	ENSG00000156170	ENST00000523378;ENST00000396113;ENST00000396111;ENST00000519136;ENST00000542894;ENST00000396124;ENST00000286687;ENST00000519804	D;D;D;D;D;D;D;D	0.82619	-1.63;-1.63;-1.63;-1.63;-1.63;-1.63;-1.63;-1.63	5.61	4.73	0.59995	Terpenoid synthase (2);	0.952772	0.08576	N	0.925321	T	0.81969	0.4935	M	0.64170	1.965	0.80722	D	1	P;B;B;B	0.36837	0.571;0.11;0.222;0.277	B;B;B;B	0.39152	0.213;0.139;0.149;0.292	T	0.77024	-0.2741	10	0.62326	D	0.03	-17.6934	7.5476	0.27777	0.2472:0.0:0.7528:0.0	.	44;196;144;164	B4DW83;Q330K2;Q330K2-2;B4DQ45	.;CH038_HUMAN;.;.	N	104;104;104;85;144;196;44;85	ENSP00000428034:K104N;ENSP00000379419:K104N;ENSP00000379417:K104N;ENSP00000429585:K85N;ENSP00000444515:K144N;ENSP00000379430:K196N;ENSP00000286687:K44N;ENSP00000430230:K85N	ENSP00000286687:K44N	K	+	3	2	C8orf38	96128405	1.000000	0.71417	1.000000	0.80357	0.929000	0.56500	1.695000	0.37763	1.367000	0.46095	0.655000	0.94253	AAG		0.368	NDUFAF6-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316700.2	NM_152416		15	24	1	0	1.3612e-06	1	1.41782e-06	15	24					T	96059229	G	T	96059229	3	4	435	1	0	0	0	0	1	0	0	0	2424	991	35	5	610	5	C8orf38	8	96059229	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	11508	96059229	50304793	4076	25001											
GDF6	392255	broad.mit.edu	37	chr8	97156824	97156824	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cacgactccaccaccatgtcCtcgtactgcttgtagaccac	9	9	6	17	2	0	1	0	0	0	1	3	2	2	1	5	0	2	3	5	0	2	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:97156824C>T	ENST00000287020.5	-	2	1434	c.1335G>A	c.(1333-1335)gaG>gaA	p.E445E		NM_001001557.2	NP_001001557.1	Q6KF10	GDF6_HUMAN	growth differentiation factor 6	445					activin receptor signaling pathway (GO:0032924)|apoptotic process (GO:0006915)|BMP signaling pathway (GO:0030509)|growth (GO:0040007)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of transcription, DNA-templated (GO:0045893)|retinal cell apoptotic process (GO:1990009)	extracellular space (GO:0005615)				breast(2)|cervix(1)|endometrium(1)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	27	Breast(36;2.67e-05)					CCACCATGTCCTCGTACTGCT	0.632																																						ENST00000287020.5																			0				breast(2)|cervix(1)|endometrium(1)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	27						c.(1333-1335)gaG>gaA		growth differentiation factor 6							38	44	42					8																	97156824		2203	4300	6503	SO:0001819	synonymous_variant	392255				activin receptor signaling pathway|BMP signaling pathway|growth|pathway-restricted SMAD protein phosphorylation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent	extracellular space	cytokine activity|growth factor activity	g.chr8:97156824C>T		CCDS34926.1	8q22.1	2014-01-29			ENSG00000156466	ENSG00000156466			4221	protein-coding gene	gene with protein product		601147	"segmentation syndrome 1"	SGM1		10022976, 18425797	Standard	NM_001001557		Approved	BMP13, KFS, KFS1	uc003yhp.3	Q6KF10	OTTHUMG00000164710	ENST00000287020.5:c.1335G>A	8.37:g.97156824C>T							p.E445E	NM_001001557.2	NP_001001557.1	Q6KF10	GDF6_HUMAN			2	1434	-	Breast(36;2.67e-05)		445					Q6PI58	Silent	SNP	ENST00000287020.5	37	c.1335G>A	CCDS34926.1																																																																																				0.632	GDF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379862.2	NM_001001557		8	9	0	0	0	1	0	8	9					T	97156824	C	T	97156824	2	4	435	1	0	0	0	0	0	0	0	1	6317	680	24	3		3	GDF6	8	97156824	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	1097595	97156824	49207198	4077	25002											
PTDSS1	9791	broad.mit.edu	37	chr8	97312002	97312002	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacatcctgttgtgcaatggCggtggcatttggctgggcat	6	12	15	8	1	0	0	0	0	0	0	1	1	1	0	1	5	1	5	1	5	1	2	rs375896685		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:97312002C>T	ENST00000517309.1	+	6	1007	c.681C>T	c.(679-681)ggC>ggT	p.G227G	PTDSS1_ENST00000518776.1_3'UTR|PTDSS1_ENST00000455950.2_Silent_p.G81G|PTDSS1_ENST00000522072.1_Silent_p.G24G	NM_014754.1	NP_055569.1	P48651	PTSS1_HUMAN	phosphatidylserine synthase 1	227					glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylserine biosynthetic process (GO:0006659)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	transferase activity (GO:0016740)			endometrium(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(1)|prostate(1)|stomach(1)	29	Breast(36;6.18e-05)				Phosphatidylserine(DB00144)	TGTGCAATGGCGGTGGCATTT	0.493																																						ENST00000517309.1																			0				endometrium(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(1)|prostate(1)|stomach(1)	29						c.(679-681)ggC>ggT		phosphatidylserine synthase 1	Phosphatidylserine(DB00144)	C		3,4403	6.2+/-15.9	0,3,2200	213	191	198		681	-10.3	0	8		198	0,8600		0,0,4300	no	coding-synonymous	PTDSS1	NM_014754.1		0,3,6500	TT,TC,CC		0.0,0.0681,0.0231		227/474	97312002	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	9791				phosphatidylserine biosynthetic process	integral to membrane	transferase activity	g.chr8:97312002C>T	D14694	CCDS6271.1	8q22	2008-05-02			ENSG00000156471	ENSG00000156471			9587	protein-coding gene	gene with protein product		612792					Standard	NM_014754		Approved	KIAA0024, PSSA, PSS1	uc003yht.1	P48651	OTTHUMG00000164687	ENST00000517309.1:c.681C>T	8.37:g.97312002C>T						PTDSS1_ENST00000455950.2_Silent_p.G81G|PTDSS1_ENST00000518776.1_3'UTR|PTDSS1_ENST00000522072.1_Silent_p.G24G	p.G227G	NM_014754.1	NP_055569.1	P48651	PTSS1_HUMAN			6	1007	+	Breast(36;6.18e-05)		227					E5RFC5|Q9BUQ5	Silent	SNP	ENST00000517309.1	37	c.681C>T	CCDS6271.1																																																																																				0.493	PTDSS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379743.2			12	97	0	0	0	1	0	12	97					T	97312002	C	T	97312002	2	4	435	1	0	0	0	0	0	0	0	1	12736	755	27	1		1	PTDSS1	8	97312002	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	155178	97312002	49052020	4078	25003											
KCNS2	3788	broad.mit.edu	37	chr8	99440488	99440488	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggcaagcttcacgtcatggCtgagctatgtgtcttctcct	6	13	10	12	2	4	1	2	1	2	0	5	1	4	1	1	2	2	4	1	2	2	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:99440488C>T	ENST00000287042.4	+	2	631	c.281C>T	c.(280-282)gCt>gTt	p.A94V	KCNS2_ENST00000521839.1_Missense_Mutation_p.A94V	NM_020697.2	NP_065748.1	Q9ULS6	KCNS2_HUMAN	potassium voltage-gated channel, delayed-rectifier, subfamily S, member 2	94					protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)			autonomic_ganglia(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	31	Breast(36;2.4e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.0448)			CACGTCATGGCTGAGCTATGT	0.547																																					Pancreas(138;844 2489 9202 24627)	ENST00000287042.4																			0				autonomic_ganglia(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	31						c.(280-282)gCt>gTt		potassium voltage-gated channel, delayed-rectifier, subfamily S, member 2							135	111	119					8																	99440488		2203	4300	6503	SO:0001583	missense	3788					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr8:99440488C>T	AB032970	CCDS6279.1	8q22	2011-07-05			ENSG00000156486	ENSG00000156486		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6301	protein-coding gene	gene with protein product		602906				9305895, 16382104	Standard	NM_020697		Approved	Kv9.2	uc003yin.3	Q9ULS6	OTTHUMG00000044337	ENST00000287042.4:c.281C>T	8.37:g.99440488C>T	ENSP00000287042:p.Ala94Val					KCNS2_ENST00000521839.1_Missense_Mutation_p.A94V	p.A94V	NM_020697.2	NP_065748.1	Q9ULS6	KCNS2_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.0448)		2	631	+	Breast(36;2.4e-06)		94					A8KAN1	Missense_Mutation	SNP	ENST00000287042.4	37	c.281C>T	CCDS6279.1	.	.	.	.	.	.	.	.	.	.	C	13.63	2.294992	0.40594	.	.	ENSG00000156486	ENST00000287042;ENST00000521839	T;T	0.76968	-1.06;-1.06	5.41	4.51	0.55191	BTB/POZ-like (1);BTB/POZ fold (2);Potassium channel, voltage dependent, Kv, tetramerisation (1);	0.176354	0.49916	D	0.000132	T	0.62732	0.2452	N	0.22421	0.69	0.44036	D	0.99676	B	0.23937	0.094	B	0.28916	0.096	T	0.57010	-0.7884	10	0.23302	T	0.38	.	8.1776	0.31292	0.126:0.5737:0.3003:0.0	.	94	Q9ULS6	KCNS2_HUMAN	V	94	ENSP00000287042:A94V;ENSP00000430712:A94V	ENSP00000287042:A94V	A	+	2	0	KCNS2	99509664	0.985000	0.35326	0.976000	0.42696	0.961000	0.63080	2.367000	0.44213	2.527000	0.85204	0.563000	0.77884	GCT		0.547	KCNS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103134.1	NM_020697		40	57	0	0	0	1	0	40	57					T	99440488	C	T	99440488	3	4	435	1	0	0	0	0	1	0	0	0	8089	797	28	3	283	3	KCNS2	8	99440488	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	2128486	99440488	46923534	4079	25004											
OSR2	116039	broad.mit.edu	37	chr8	99961724	99961724	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agttttgcggcagacactttAccaaatcctacaatttgctc	11	13	6	11	1	0	1	0	0	0	1	2	1	1	1	2	1	4	3	2	1	4	6			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:99961724A>G	ENST00000297565.4	+	2	1040	c.544A>G	c.(544-546)Acc>Gcc	p.T182A	OSR2_ENST00000522510.1_Missense_Mutation_p.T182A|OSR2_ENST00000457907.2_Missense_Mutation_p.T303A|OSR2_ENST00000523368.1_Missense_Mutation_p.T182A|OSR2_ENST00000435298.2_Missense_Mutation_p.T182A	NM_001142462.1	NP_001135934.1	Q8N2R0	OSR2_HUMAN	odd-skipped related transciption factor 2	182					bone morphogenesis (GO:0060349)|cell differentiation (GO:0030154)|chondrocyte differentiation (GO:0002062)|embryo development (GO:0009790)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic skeletal joint development (GO:0072498)|embryonic skeletal joint morphogenesis (GO:0060272)|embryonic skeletal limb joint morphogenesis (GO:0036023)|embryonic skeletal system morphogenesis (GO:0048704)|eyelid development in camera-type eye (GO:0061029)|head development (GO:0060322)|mesonephros development (GO:0001823)|metanephros development (GO:0001656)|middle ear morphogenesis (GO:0042474)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|odontogenesis (GO:0042476)|osteoblast proliferation (GO:0033687)|palate development (GO:0060021)|positive regulation of bone mineralization (GO:0030501)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of gastrulation (GO:2000543)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|pronephros development (GO:0048793)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(14)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	Breast(36;4.14e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.0136)			CAGACACTTTACCAAATCCTA	0.512																																						ENST00000297565.4																			0				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(14)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						c.(544-546)Acc>Gcc		odd-skipped related transciption factor 2							138	149	146					8																	99961724		2051	4211	6262	SO:0001583	missense	116039				bone morphogenesis|chondrocyte differentiation|embryonic digit morphogenesis|embryonic forelimb morphogenesis|embryonic hindlimb morphogenesis|embryonic leg joint morphogenesis|embryonic skeletal joint morphogenesis|eyelid development in camera-type eye|head development|mesonephros development|metanephros development|middle ear morphogenesis|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|osteoblast proliferation|palate development|positive regulation of bone mineralization|positive regulation of epithelial cell proliferation|positive regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|zinc ion binding	g.chr8:99961724A>G	AY038072	CCDS47901.1, CCDS47902.1, CCDS69520.1	8q22.2	2013-10-17	2013-10-17			ENSG00000164920		"Zinc fingers, C2H2-type"	15830	protein-coding gene	gene with protein product		611297	"odd-skipped related 2 (Drosophila)"				Standard	XM_005250779		Approved	FLJ90037	uc003yir.3	Q8N2R0		ENST00000297565.4:c.544A>G	8.37:g.99961724A>G	ENSP00000297565:p.Thr182Ala					OSR2_ENST00000522510.1_Missense_Mutation_p.T182A|OSR2_ENST00000523368.1_Missense_Mutation_p.T182A|OSR2_ENST00000457907.2_Missense_Mutation_p.T303A|OSR2_ENST00000435298.2_Missense_Mutation_p.T182A	p.T182A	NM_001142462.1	NP_001135934.1	Q8N2R0	OSR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.0136)		2	1040	+	Breast(36;4.14e-07)		182					A8K626|B4E3B7|Q96AM6|Q96LB6|Q96LB7	Missense_Mutation	SNP	ENST00000297565.4	37	c.544A>G	CCDS47901.1	.	.	.	.	.	.	.	.	.	.	A	26.4	4.734451	0.89482	.	.	ENSG00000164920	ENST00000523368;ENST00000297565;ENST00000435298;ENST00000522510;ENST00000457907;ENST00000520951;ENST00000518199	T;T;T;T;T;T;T	0.07216	3.21;3.21;3.21;3.21;3.21;3.21;3.21	4.35	4.35	0.52113	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.26593	0.0650	M	0.78049	2.395	0.80722	D	1	D;D;P;P	0.65815	0.973;0.995;0.844;0.691	P;D;P;P	0.63283	0.759;0.913;0.867;0.643	T	0.01753	-1.1281	9	.	.	.	-20.2199	14.5912	0.68365	1.0:0.0:0.0:0.0	.	303;182;182;182	B4E3B7;E5RH04;Q8N2R0;Q8N2R0-2	.;.;OSR2_HUMAN;.	A	182;182;182;182;303;235;182	ENSP00000430041:T182A;ENSP00000297565:T182A;ENSP00000402862:T182A;ENSP00000430780:T182A;ENSP00000414657:T303A;ENSP00000430074:T235A;ENSP00000429910:T182A	.	T	+	1	0	OSR2	100030900	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.087000	0.94110	2.198000	0.70561	0.533000	0.62120	ACC		0.512	OSR2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000379505.1	NM_053001		48	68	0	0	0	1	0	48	68					G	99961724	A	G	99961724	3	3	435	1	0	0	0	0	1	0	0	0	11294	391	14	4	546	4	OSR2	8	99961724	Missense_Mutation	SNP	A	TCGA-XK-AAIW-01A-11D-A41K-08	521236	99961724	46402298	4080	25005											
VPS13B	157680	broad.mit.edu	37	chr8	100160238	100160238	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctgtcattatgggagaaaaGgtatattttgtgatttgcta	11	16	10	4	0	1	2	1	1	0	1	1	3	1	2	1	2	1	2	1	2	6	7			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:100160238G>T	ENST00000358544.2	+	14	2124	c.2013G>T	c.(2011-2013)aaG>aaT	p.K671N	VPS13B_ENST00000355155.1_Splice_Site_p.K671N|VPS13B_ENST00000357162.2_Splice_Site_p.K671N|VPS13B_ENST00000395996.1_Splice_Site_p.K671N	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	671					protein transport (GO:0015031)					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			TGGGAGAAAAGGTATATTTTG	0.358																																					Colon(161;2205 2542 7338 31318)	ENST00000395996.1																			0				NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193						c.e14+1		vacuolar protein sorting 13 homolog B (yeast)							135	135	135					8																	100160238		2203	4300	6503	SO:0001630	splice_region_variant	157680				protein transport			g.chr8:100160238G>T	AJ608772	CCDS6280.1, CCDS6281.1, CCDS6283.1, CCDS47903.1	8q22-q23	2014-09-17	2006-12-19	2005-04-08	ENSG00000132549	ENSG00000132549			2183	protein-coding gene	gene with protein product		607817	"Cohen syndrome 1"	CHS1, COH1		7920642, 15498460	Standard	NM_181661		Approved		uc003yiv.4	Q7Z7G8	OTTHUMG00000140383	ENST00000358544.2:c.2013+1G>T	8.37:g.100160238G>T						VPS13B_ENST00000358544.2_Splice_Site_p.K671_splice|VPS13B_ENST00000357162.2_Splice_Site_p.K671_splice|VPS13B_ENST00000355155.1_Splice_Site_p.K671_splice	p.K671_splice			Q7Z7G8	VP13B_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.00636)		14	2124	+	Breast(36;3.73e-07)		671					C9JD30|Q709C6|Q709C7|Q7Z7G4|Q7Z7G5|Q7Z7G6|Q7Z7G7|Q8NB77|Q9NWV1|Q9Y4E7	Splice_Site	SNP	ENST00000358544.2	37	c.2013_splice	CCDS6280.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.266353	0.80358	.	.	ENSG00000132549	ENST00000355155;ENST00000357162;ENST00000358544;ENST00000395996	D;T;T;T	0.81659	-1.52;-0.8;-0.8;-0.5	5.14	5.14	0.70334	.	0.000000	0.64402	D	0.000001	D	0.85044	0.5607	L	0.29908	0.895	0.58432	D	0.999998	D;D;D;D;D	0.89917	1.0;1.0;0.999;0.996;0.988	D;D;D;P;P	0.85130	0.997;0.997;0.994;0.844;0.844	D	0.86256	0.1652	10	0.56958	D	0.05	.	18.9636	0.92685	0.0:0.0:1.0:0.0	.	671;671;671;671;671	Q7Z7G8-6;Q7Z7G8-2;Q7Z7G8;Q7Z7G8-3;Q7Z7G8-4	.;.;VP13B_HUMAN;.;.	N	671	ENSP00000347281:K671N;ENSP00000349685:K671N;ENSP00000351346:K671N;ENSP00000379318:K671N	ENSP00000347281:K671N	K	+	3	2	VPS13B	100229414	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	7.084000	0.76866	2.540000	0.85666	0.563000	0.77884	AAG		0.358	VPS13B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000277138.1	NM_184042	Missense_Mutation	20	50	1	0	1.22574e-08	1	1.29596e-08	20	50					T	100160238	G	T	100160238	5	4	435	1	0	0	0	0	0	0	1	0	17187	1014	35	5	2105	5	VPS13B	8	100160238	Splice_Site	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	198514	100160238	46203784	4081	25006											
VPS13B	157680	broad.mit.edu	37	chr8	100523416	100523416	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aagctgtaacaaaaaatgtcCgccacaagttaacatcaaga	19	7	6	9	1	1	1	1	0	0	1	2	1	2	1	2	0	3	3	2	0	8	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:100523416C>T	ENST00000358544.2	+	29	4495	c.4384C>T	c.(4384-4386)Cgc>Tgc	p.R1462C	VPS13B_ENST00000357162.2_Missense_Mutation_p.R1437C|VPS13B_ENST00000395996.1_3'UTR	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	1462					protein transport (GO:0015031)			p.R1462S(1)|p.R1437S(1)		NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			AAAAAATGTCCGCCACAAGTT	0.378																																					Colon(161;2205 2542 7338 31318)	ENST00000358544.2																			2	Substitution - Missense(2)	p.R1462S(1)|p.R1437S(1)	lung(2)	NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193						c.(4384-4386)Cgc>Tgc		vacuolar protein sorting 13 homolog B (yeast)							114	116	116					8																	100523416		2203	4300	6503	SO:0001583	missense	157680				protein transport			g.chr8:100523416C>T	AJ608772	CCDS6280.1, CCDS6281.1, CCDS6283.1, CCDS47903.1	8q22-q23	2014-09-17	2006-12-19	2005-04-08	ENSG00000132549	ENSG00000132549			2183	protein-coding gene	gene with protein product		607817	"Cohen syndrome 1"	CHS1, COH1		7920642, 15498460	Standard	NM_181661		Approved		uc003yiv.4	Q7Z7G8	OTTHUMG00000140383	ENST00000358544.2:c.4384C>T	8.37:g.100523416C>T	ENSP00000351346:p.Arg1462Cys					VPS13B_ENST00000357162.2_Missense_Mutation_p.R1437C|VPS13B_ENST00000395996.1_3'UTR	p.R1462C	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.00636)		29	4495	+	Breast(36;3.73e-07)		1462					C9JD30|Q709C6|Q709C7|Q7Z7G4|Q7Z7G5|Q7Z7G6|Q7Z7G7|Q8NB77|Q9NWV1|Q9Y4E7	Missense_Mutation	SNP	ENST00000358544.2	37	c.4384C>T	CCDS6280.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.330292	0.81690	.	.	ENSG00000132549	ENST00000357162;ENST00000358544	T;T	0.51325	0.71;0.71	5.36	4.42	0.53409	.	0.000000	0.85682	D	0.000000	T	0.61837	0.2379	L	0.47716	1.5	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.997;0.996	T	0.64415	-0.6413	10	0.87932	D	0	.	15.142	0.72618	0.1419:0.8581:0.0:0.0	.	1461;1437;1462	Q7Z7G8-6;Q7Z7G8-2;Q7Z7G8	.;.;VP13B_HUMAN	C	1437;1462	ENSP00000349685:R1437C;ENSP00000351346:R1462C	ENSP00000349685:R1437C	R	+	1	0	VPS13B	100592592	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.751000	0.68720	2.669000	0.90835	0.585000	0.79938	CGC		0.378	VPS13B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000277138.1	NM_184042		21	55	0	0	0	1	0	21	55					T	100523416	C	T	100523416	3	4	435	1	0	0	0	0	1	0	0	0	17187	652	23	2	4688	2	VPS13B	8	100523416	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	363178	100523416	45840606	4082	25007											
VPS13B	157680	broad.mit.edu	37	chr8	100587894	100587894	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tctatcttttagcatacggcGgcatcaagaaaggagagcaa	14	9	10	8	2	3	2	1	0	2	2	3	3	3	2	0	3	3	3	0	3	6	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:100587894G>A	ENST00000358544.2	+	32	5144	c.5033G>A	c.(5032-5034)cGg>cAg	p.R1678Q	VPS13B_ENST00000357162.2_Missense_Mutation_p.R1653Q|VPS13B_ENST00000395996.1_3'UTR	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	1678					protein transport (GO:0015031)					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			AGCATACGGCGGCATCAAGAA	0.353																																					Colon(161;2205 2542 7338 31318)	ENST00000358544.2																			0				NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193						c.(5032-5034)cGg>cAg		vacuolar protein sorting 13 homolog B (yeast)							76	77	77					8																	100587894		2203	4300	6503	SO:0001583	missense	157680				protein transport			g.chr8:100587894G>A	AJ608772	CCDS6280.1, CCDS6281.1, CCDS6283.1, CCDS47903.1	8q22-q23	2014-09-17	2006-12-19	2005-04-08	ENSG00000132549	ENSG00000132549			2183	protein-coding gene	gene with protein product		607817	"Cohen syndrome 1"	CHS1, COH1		7920642, 15498460	Standard	NM_181661		Approved		uc003yiv.4	Q7Z7G8	OTTHUMG00000140383	ENST00000358544.2:c.5033G>A	8.37:g.100587894G>A	ENSP00000351346:p.Arg1678Gln					VPS13B_ENST00000357162.2_Missense_Mutation_p.R1653Q|VPS13B_ENST00000395996.1_3'UTR	p.R1678Q	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.00636)		32	5144	+	Breast(36;3.73e-07)		1678					C9JD30|Q709C6|Q709C7|Q7Z7G4|Q7Z7G5|Q7Z7G6|Q7Z7G7|Q8NB77|Q9NWV1|Q9Y4E7	Missense_Mutation	SNP	ENST00000358544.2	37	c.5033G>A	CCDS6280.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	25.9|25.9	4.684020|4.684020	0.88639|0.88639	.|.	.|.	ENSG00000132549|ENSG00000132549	ENST00000521559|ENST00000357162;ENST00000358544	.|T;T	.|0.69561	.|-0.41;-0.4	5.74|5.74	5.74|5.74	0.90152|0.90152	.|.	.|0.000000	.|0.64402	.|D	.|0.000001	T|T	0.80088|0.80088	0.4559|0.4559	M|M	0.62723|0.62723	1.935|1.935	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.83275	.|0.996;0.992	T|T	0.74682|0.74682	-0.3583|-0.3583	5|10	.|0.24483	.|T	.|0.36	.|.	19.5096|19.5096	0.95135|0.95135	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|1653;1678	.|Q7Z7G8-2;Q7Z7G8	.|.;VP13B_HUMAN	S|Q	41|1653;1678	.|ENSP00000349685:R1653Q;ENSP00000351346:R1678Q	.|ENSP00000349685:R1653Q	G|R	+|+	1|2	0|0	VPS13B|VPS13B	100657070|100657070	1.000000|1.000000	0.71417|0.71417	0.556000|0.556000	0.28293|0.28293	0.971000|0.971000	0.66376|0.66376	9.015000|9.015000	0.93640|0.93640	2.709000|2.709000	0.92574|0.92574	0.655000|0.655000	0.94253|0.94253	GGC|CGG		0.353	VPS13B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000277138.1	NM_184042		51	57	0	0	0	1	0	51	57					A	100587894	G	A	100587894	3	1	435	1	0	0	0	0	1	0	0	0	17187	1116	39	2	5349	2	VPS13B	8	100587894	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	64478	100587894	45776128	4083	25008											
VPS13B	157680	broad.mit.edu	37	chr8	100654441	100654441	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccacggtgacagcagaagatCtcttaaggagcagcatttct	12	9	10	10	1	2	3	0	1	2	2	3	4	2	4	1	2	3	3	1	2	2	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:100654441C>A	ENST00000358544.2	+	34	5809	c.5698C>A	c.(5698-5700)Ctc>Atc	p.L1900I	VPS13B_ENST00000357162.2_Missense_Mutation_p.L1875I|VPS13B_ENST00000395996.1_3'UTR	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	1900					protein transport (GO:0015031)					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			AGCAGAAGATCTCTTAAGGAG	0.418																																					Colon(161;2205 2542 7338 31318)	ENST00000358544.2																			0				NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193						c.(5698-5700)Ctc>Atc		vacuolar protein sorting 13 homolog B (yeast)							119	125	123					8																	100654441		2203	4300	6503	SO:0001583	missense	157680				protein transport			g.chr8:100654441C>A	AJ608772	CCDS6280.1, CCDS6281.1, CCDS6283.1, CCDS47903.1	8q22-q23	2014-09-17	2006-12-19	2005-04-08	ENSG00000132549	ENSG00000132549			2183	protein-coding gene	gene with protein product		607817	"Cohen syndrome 1"	CHS1, COH1		7920642, 15498460	Standard	NM_181661		Approved		uc003yiv.4	Q7Z7G8	OTTHUMG00000140383	ENST00000358544.2:c.5698C>A	8.37:g.100654441C>A	ENSP00000351346:p.Leu1900Ile					VPS13B_ENST00000357162.2_Missense_Mutation_p.L1875I|VPS13B_ENST00000395996.1_3'UTR	p.L1900I	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.00636)		34	5809	+	Breast(36;3.73e-07)		1900					C9JD30|Q709C6|Q709C7|Q7Z7G4|Q7Z7G5|Q7Z7G6|Q7Z7G7|Q8NB77|Q9NWV1|Q9Y4E7	Missense_Mutation	SNP	ENST00000358544.2	37	c.5698C>A	CCDS6280.1	.	.	.	.	.	.	.	.	.	.	C	12.51	1.959968	0.34565	.	.	ENSG00000132549	ENST00000357162;ENST00000358544	T;T	0.71222	-0.55;-0.55	5.6	5.6	0.85130	.	0.150109	0.45126	D	0.000389	T	0.50803	0.1637	N	0.08118	0	0.80722	D	1	B;B	0.12630	0.006;0.004	B;B	0.10450	0.005;0.002	T	0.47114	-0.9142	10	0.19147	T	0.46	.	15.2417	0.73476	0.141:0.859:0.0:0.0	.	1875;1900	Q7Z7G8-2;Q7Z7G8	.;VP13B_HUMAN	I	1875;1900	ENSP00000349685:L1875I;ENSP00000351346:L1900I	ENSP00000349685:L1875I	L	+	1	0	VPS13B	100723617	1.000000	0.71417	0.998000	0.56505	0.986000	0.74619	1.549000	0.36212	2.652000	0.90054	0.561000	0.74099	CTC		0.418	VPS13B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000277138.1	NM_184042		21	68	1	0	2.37509e-13	1	2.57931e-13	21	68					A	100654441	C	A	100654441	3	1	435	1	0	0	0	0	1	0	0	0	17187	913	32	5	6022	5	VPS13B	8	100654441	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	66547	100654441	45709581	4084	25009											
RGS22	26166	broad.mit.edu	37	chr8	101020624	101020624	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tttttataagcaatttggtcCgattttaccatctttgtcca	9	19	5	8	1	1	0	0	0	1	0	3	1	3	0	3	1	2	1	3	1	4	8			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:101020624C>T	ENST00000360863.6	-	15	2534	c.2340G>A	c.(2338-2340)tcG>tcA	p.S780S	RGS22_ENST00000523287.1_Silent_p.S599S|RGS22_ENST00000523437.1_Silent_p.S768S|RGS22_ENST00000519421.1_5'UTR	NM_015668.3	NP_056483.3	Q8NE09	RGS22_HUMAN	regulator of G-protein signaling 22	780					positive regulation of GTPase activity (GO:0043547)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)		RGS22/SYCP1(2)	breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(33)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	68			Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)			CAATTTGGTCCGATTTTACCA	0.403																																						ENST00000360863.6																		RGS22/SYCP1(2)	0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(33)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	68						c.(2338-2340)tcG>tcA		regulator of G-protein signaling 22							151	142	145					8																	101020624		1868	4103	5971	SO:0001819	synonymous_variant	26166				negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity	g.chr8:101020624C>T	AY009106	CCDS43758.1, CCDS69521.1, CCDS75775.1	8q22.2	2014-01-21	2007-08-14		ENSG00000132554	ENSG00000132554		"Regulators of G-protein signaling"	24499	protein-coding gene	gene with protein product		615650	"regulator of G-protein signalling 22"				Standard	XM_005250856		Approved	DKFZP434I092, PRTD-NY2, CT145	uc003yjb.1	Q8NE09	OTTHUMG00000164802	ENST00000360863.6:c.2340G>A	8.37:g.101020624C>T						RGS22_ENST00000523437.1_Silent_p.S768S|RGS22_ENST00000523287.1_Silent_p.S599S|RGS22_ENST00000519421.1_5'UTR	p.S780S	NM_015668.3	NP_056483.3	Q8NE09	RGS22_HUMAN	Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)		15	2534	-			780					A8K944|Q569L2|Q86Y71|Q9BYZ4|Q9UFN6	Silent	SNP	ENST00000360863.6	37	c.2340G>A	CCDS43758.1																																																																																				0.403	RGS22-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000380365.1	NM_015668		24	61	0	0	0	1	0	24	61					T	101020624	C	T	101020624	2	4	435	1	0	0	0	0	0	0	0	1	13305	639	23	2		2	RGS22	8	101020624	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	366183	101020624	45343398	4085	25010											
FBXO43	286151	broad.mit.edu	37	chr8	101146206	101146206	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cagtccccttttcttatatgGctggtacttagcaggggact	7	14	10	10	0	1	0	0	0	1	0	2	1	2	1	2	4	2	3	2	4	4	6			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:101146206G>A	ENST00000428847.2	-	5	2267	c.1951C>T	c.(1951-1953)Cca>Tca	p.P651S		NM_001029860.3	NP_001025031.2	Q4G163	FBX43_HUMAN	F-box protein 43	651					meiotic nuclear division (GO:0007126)|negative regulation of meiosis (GO:0045835)|negative regulation of protein catabolic process (GO:0042177)|protein ubiquitination (GO:0016567)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)			endometrium(1)|kidney(4)|large_intestine(5)|lung(14)|prostate(1)|skin(5)|urinary_tract(1)	31	all_cancers(14;0.000139)|all_epithelial(15;2.84e-07)|Lung NSC(17;0.000274)|all_lung(17;0.000798)		Epithelial(11;1.17e-09)|all cancers(13;1.34e-07)|OV - Ovarian serous cystadenocarcinoma(57;3.82e-05)|STAD - Stomach adenocarcinoma(118;0.0957)			TTCTTATATGGCTGGTACTTA	0.443																																						ENST00000428847.2																			0				endometrium(1)|kidney(4)|large_intestine(5)|lung(14)|prostate(1)|skin(5)|urinary_tract(1)	31						c.(1951-1953)Cca>Tca		F-box protein 43							103	101	102					8																	101146206		1873	4103	5976	SO:0001583	missense	286151				meiosis		zinc ion binding	g.chr8:101146206G>A	BC028709	CCDS47904.1	8q22.3	2004-08-24			ENSG00000156509	ENSG00000156509		"F-boxes /  "other""	28521	protein-coding gene	gene with protein product		609110					Standard	NR_036491		Approved	Fbx43	uc003yjd.3	Q4G163	OTTHUMG00000164803	ENST00000428847.2:c.1951C>T	8.37:g.101146206G>A	ENSP00000403293:p.Pro651Ser						p.P651S	NM_001029860.3	NP_001025031.2	Q4G163	FBX43_HUMAN	Epithelial(11;1.17e-09)|all cancers(13;1.34e-07)|OV - Ovarian serous cystadenocarcinoma(57;3.82e-05)|STAD - Stomach adenocarcinoma(118;0.0957)		5	2267	-	all_cancers(14;0.000139)|all_epithelial(15;2.84e-07)|Lung NSC(17;0.000274)|all_lung(17;0.000798)		651						Missense_Mutation	SNP	ENST00000428847.2	37	c.1951C>T	CCDS47904.1	.	.	.	.	.	.	.	.	.	.	G	12.40	1.927343	0.34002	.	.	ENSG00000156509	ENST00000428847	T	0.62105	0.05	5.42	5.42	0.78866	Zinc finger, C6HC-type (2);	0.303409	0.32655	N	0.005819	T	0.42675	0.1213	N	0.16743	0.435	0.35178	D	0.772191	P	0.47034	0.889	B	0.43658	0.426	T	0.48714	-0.9011	10	0.16420	T	0.52	-14.6744	6.5562	0.22462	0.1155:0.181:0.7035:0.0	.	651	Q4G163	FBX43_HUMAN	S	651	ENSP00000403293:P651S	ENSP00000403293:P651S	P	-	1	0	FBXO43	101215382	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.673000	0.46858	2.711000	0.92665	0.655000	0.94253	CCA		0.443	FBXO43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380380.1	XM_209918		33	53	0	0	0	1	0	33	53					A	101146206	G	A	101146206	3	1	435	1	0	0	0	0	1	0	0	0	5752	1203	42	3	179	3	FBXO43	8	101146206	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	125582	101146206	45217816	4086	25011											
FBXO43	286151	broad.mit.edu	37	chr8	101154164	101154164	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aggcctgaagtttcagggtgCtcatagagtaatgttgggcc	9	11	14	7	0	2	2	2	1	0	1	2	2	2	2	2	3	1	4	2	3	3	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:101154164C>T	ENST00000428847.2	-	2	634	c.318G>A	c.(316-318)gaG>gaA	p.E106E		NM_001029860.3	NP_001025031.2	Q4G163	FBX43_HUMAN	F-box protein 43	106					meiotic nuclear division (GO:0007126)|negative regulation of meiosis (GO:0045835)|negative regulation of protein catabolic process (GO:0042177)|protein ubiquitination (GO:0016567)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)			endometrium(1)|kidney(4)|large_intestine(5)|lung(14)|prostate(1)|skin(5)|urinary_tract(1)	31	all_cancers(14;0.000139)|all_epithelial(15;2.84e-07)|Lung NSC(17;0.000274)|all_lung(17;0.000798)		Epithelial(11;1.17e-09)|all cancers(13;1.34e-07)|OV - Ovarian serous cystadenocarcinoma(57;3.82e-05)|STAD - Stomach adenocarcinoma(118;0.0957)			TTTCAGGGTGCTCATAGAGTA	0.363																																						ENST00000428847.2																			0				endometrium(1)|kidney(4)|large_intestine(5)|lung(14)|prostate(1)|skin(5)|urinary_tract(1)	31						c.(316-318)gaG>gaA		F-box protein 43							101	93	95					8																	101154164		1811	4069	5880	SO:0001819	synonymous_variant	286151				meiosis		zinc ion binding	g.chr8:101154164C>T	BC028709	CCDS47904.1	8q22.3	2004-08-24			ENSG00000156509	ENSG00000156509		"F-boxes /  "other""	28521	protein-coding gene	gene with protein product		609110					Standard	NR_036491		Approved	Fbx43	uc003yjd.3	Q4G163	OTTHUMG00000164803	ENST00000428847.2:c.318G>A	8.37:g.101154164C>T							p.E106E	NM_001029860.3	NP_001025031.2	Q4G163	FBX43_HUMAN	Epithelial(11;1.17e-09)|all cancers(13;1.34e-07)|OV - Ovarian serous cystadenocarcinoma(57;3.82e-05)|STAD - Stomach adenocarcinoma(118;0.0957)		2	634	-	all_cancers(14;0.000139)|all_epithelial(15;2.84e-07)|Lung NSC(17;0.000274)|all_lung(17;0.000798)		106						Silent	SNP	ENST00000428847.2	37	c.318G>A	CCDS47904.1																																																																																				0.363	FBXO43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380380.1	XM_209918		18	45	0	0	0	1	0	18	45					T	101154164	C	T	101154164	2	4	435	1	0	0	0	0	0	0	0	1	5752	796	28	3		3	FBXO43	8	101154164	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	7958	101154164	45209858	4087	25012											
SNX31	169166	broad.mit.edu	37	chr8	101629955	101629955	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cttggtggcgatgtcaaatgTattctataagcaaaagaaaa	16	11	9	5	1	2	1	1	0	1	1	2	2	2	1	0	2	1	2	0	2	8	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:101629955T>C	ENST00000311812.2	-	5	475	c.325A>G	c.(325-327)Aca>Gca	p.T109A	KB-1083B1.1_ENST00000521625.1_RNA|KB-1083B1.1_ENST00000521535.1_RNA|SNX31_ENST00000428383.2_Missense_Mutation_p.T10A	NM_152628.3	NP_689841.3	Q8N9S9	SNX31_HUMAN	sorting nexin 31	109	PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.				protein transport (GO:0015031)	protein complex (GO:0043234)	phosphatidylinositol binding (GO:0035091)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|prostate(1)|skin(3)|urinary_tract(1)	26	all_cancers(14;4.01e-05)|all_epithelial(15;1.26e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125)		Epithelial(11;1.21e-11)|all cancers(13;2.62e-09)|OV - Ovarian serous cystadenocarcinoma(57;3.22e-06)|STAD - Stomach adenocarcinoma(118;0.206)			ATGTCAAATGTATTCTATAAG	0.388																																						ENST00000311812.2																			0				NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|prostate(1)|skin(3)|urinary_tract(1)	26						c.(325-327)Aca>Gca		sorting nexin 31							120	116	117					8																	101629955		2202	4300	6502	SO:0001583	missense	169166				cell communication|protein transport		phosphatidylinositol binding	g.chr8:101629955T>C		CCDS6288.1	8q22.3	2011-05-03			ENSG00000174226	ENSG00000174226		"Sorting nexins"	28605	protein-coding gene	gene with protein product						16782399	Standard	NM_152628		Approved	MGC39715	uc003yjr.3	Q8N9S9	OTTHUMG00000164725	ENST00000311812.2:c.325A>G	8.37:g.101629955T>C	ENSP00000312368:p.Thr109Ala					SNX31_ENST00000428383.2_Missense_Mutation_p.T10A	p.T109A	NM_152628.3	NP_689841.3	Q8N9S9	SNX31_HUMAN	Epithelial(11;1.21e-11)|all cancers(13;2.62e-09)|OV - Ovarian serous cystadenocarcinoma(57;3.22e-06)|STAD - Stomach adenocarcinoma(118;0.206)		5	475	-	all_cancers(14;4.01e-05)|all_epithelial(15;1.26e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125)		109			PX.		C9J6L9|Q8N0U9	Missense_Mutation	SNP	ENST00000311812.2	37	c.325A>G	CCDS6288.1	.	.	.	.	.	.	.	.	.	.	T	14.81	2.647878	0.47258	.	.	ENSG00000174226	ENST00000311812;ENST00000428383;ENST00000520352;ENST00000520661	T;T;T;T	0.52983	2.14;1.34;0.78;0.64	5.96	5.96	0.96718	Phox homologous domain (2);	0.000000	0.64402	D	0.000005	T	0.68641	0.3023	M	0.78456	2.415	0.43137	D	0.994883	D;D	0.89917	1.0;0.991	D;D	0.85130	0.997;0.956	T	0.72811	-0.4180	10	0.66056	D	0.02	-10.9223	12.8229	0.57704	0.0:0.0:0.0:1.0	.	10;109	Q8N9S9-2;Q8N9S9	.;SNX31_HUMAN	A	109;10;43;110	ENSP00000312368:T109A;ENSP00000405024:T10A;ENSP00000428210:T43A;ENSP00000428855:T110A	ENSP00000312368:T109A	T	-	1	0	SNX31	101699131	1.000000	0.71417	0.725000	0.30721	0.045000	0.14185	4.038000	0.57318	2.277000	0.76020	0.528000	0.53228	ACA		0.388	SNX31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379910.1	NM_152628		40	37	0	0	0	1	0	40	37					C	101629955	T	C	101629955	3	2	435	1	0	0	0	0	1	0	0	0	14901	1638	57	4	1037	4	SNX31	8	101629955	Missense_Mutation	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	475791	101629955	44734067	4088	25013											
UBR5	51366	broad.mit.edu	37	chr8	103293668	103293668	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atgctcatcattatgagaccGcattagagacagagcataat	15	10	8	8	1	2	3	2	1	0	3	2	5	2	3	1	0	2	3	1	0	3	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:103293668G>A	ENST00000520539.1	-	41	6382	c.5776C>T	c.(5776-5778)Cgg>Tgg	p.R1926W	UBR5_ENST00000220959.4_Missense_Mutation_p.R1926W|UBR5_ENST00000521922.1_Missense_Mutation_p.R1920W	NM_001282873.1|NM_015902.5	NP_001269802.1|NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5	1926					cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|negative regulation of double-strand break repair (GO:2000780)|negative regulation of histone H2A K63-linked ubiquitination (GO:1901315)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of protein import into nucleus, translocation (GO:0033160)|progesterone receptor signaling pathway (GO:0050847)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|RNA binding (GO:0003723)|ubiquitin-protein transferase activity (GO:0004842)|ubiquitin-ubiquitin ligase activity (GO:0034450)|zinc ion binding (GO:0008270)			NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			TTATGAGACCGCATTAGAGAC	0.408																																					Ovarian(131;96 1741 5634 7352 27489)	ENST00000520539.1																			0				NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124						c.(5776-5778)Cgg>Tgg		ubiquitin protein ligase E3 component n-recognin 5							132	117	122					8																	103293668		2203	4300	6503	SO:0001583	missense	51366				cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding	g.chr8:103293668G>A	AF006010	CCDS34933.1, CCDS64946.1	8q22	2008-06-23	2007-06-19	2007-06-19	ENSG00000104517	ENSG00000104517		"Ubiquitin protein ligase E3 component n-recognins"	16806	protein-coding gene	gene with protein product		608413	"E3 ubiquitin protein ligase, HECT domain containing, 1"	EDD1		10030672, 16055722	Standard	NM_015902		Approved	DD5, HYD, EDD, KIAA0896	uc003ykr.2	O95071	OTTHUMG00000164755	ENST00000520539.1:c.5776C>T	8.37:g.103293668G>A	ENSP00000429084:p.Arg1926Trp					UBR5_ENST00000220959.4_Missense_Mutation_p.R1926W|UBR5_ENST00000521922.1_Missense_Mutation_p.R1920W	p.R1926W	NM_015902.5	NP_056986.2	O95071	UBR5_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.000442)		41	6382	-	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		1926					B2RP24|J3KMW7|O94970|Q9NPL3	Missense_Mutation	SNP	ENST00000520539.1	37	c.5776C>T	CCDS34933.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.378093	0.82682	.	.	ENSG00000104517	ENST00000520539;ENST00000220959;ENST00000521922	T;T;T	0.63580	-0.05;-0.05;-0.05	5.02	-2.55	0.06288	.	0.000000	0.85682	D	0.000000	T	0.75317	0.3833	M	0.75085	2.285	0.53688	D	0.999979	D;D	0.89917	1.0;1.0	D;D	0.71414	0.973;0.973	T	0.78391	-0.2222	10	0.87932	D	0	.	16.7995	0.85610	0.0:0.0:0.3315:0.6685	.	1920;1926	E7EMW7;O95071	.;UBR5_HUMAN	W	1926;1926;1920	ENSP00000429084:R1926W;ENSP00000220959:R1926W;ENSP00000427819:R1920W	ENSP00000220959:R1926W	R	-	1	2	UBR5	103362844	1.000000	0.71417	0.989000	0.46669	0.997000	0.91878	3.298000	0.51818	-0.485000	0.06754	0.563000	0.77884	CGG		0.408	UBR5-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000380075.2	NM_015902		31	36	0	0	0	1	0	31	36					A	103293668	G	A	103293668	3	1	435	1	0	0	0	0	1	0	0	0	16902	1086	38	1	2699	1	UBR5	8	103293668	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	1663713	103293668	43070354	4089	25014											
UBR5	51366	broad.mit.edu	37	chr8	103310685	103310685	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gataagctcggccacttacaGctgacataaatggggtcatc	12	9	10	10	1	1	1	1	1	0	0	3	2	1	1	1	3	3	2	1	3	4	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:103310685G>A	ENST00000520539.1	-	26	3965	c.3359C>T	c.(3358-3360)gCt>gTt	p.A1120V	UBR5_ENST00000220959.4_Missense_Mutation_p.A1120V|UBR5_ENST00000521922.1_Missense_Mutation_p.A1114V	NM_001282873.1|NM_015902.5	NP_001269802.1|NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5	1120					cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|negative regulation of double-strand break repair (GO:2000780)|negative regulation of histone H2A K63-linked ubiquitination (GO:1901315)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of protein import into nucleus, translocation (GO:0033160)|progesterone receptor signaling pathway (GO:0050847)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|RNA binding (GO:0003723)|ubiquitin-protein transferase activity (GO:0004842)|ubiquitin-ubiquitin ligase activity (GO:0034450)|zinc ion binding (GO:0008270)			NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			GCCACTTACAGCTGACATAAA	0.318																																					Ovarian(131;96 1741 5634 7352 27489)	ENST00000520539.1																			0				NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124						c.(3358-3360)gCt>gTt		ubiquitin protein ligase E3 component n-recognin 5							60	61	60					8																	103310685		2203	4300	6503	SO:0001583	missense	51366				cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding	g.chr8:103310685G>A	AF006010	CCDS34933.1, CCDS64946.1	8q22	2008-06-23	2007-06-19	2007-06-19	ENSG00000104517	ENSG00000104517		"Ubiquitin protein ligase E3 component n-recognins"	16806	protein-coding gene	gene with protein product		608413	"E3 ubiquitin protein ligase, HECT domain containing, 1"	EDD1		10030672, 16055722	Standard	NM_015902		Approved	DD5, HYD, EDD, KIAA0896	uc003ykr.2	O95071	OTTHUMG00000164755	ENST00000520539.1:c.3359C>T	8.37:g.103310685G>A	ENSP00000429084:p.Ala1120Val					UBR5_ENST00000220959.4_Missense_Mutation_p.A1120V|UBR5_ENST00000521922.1_Missense_Mutation_p.A1114V	p.A1120V	NM_015902.5	NP_056986.2	O95071	UBR5_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.000442)		26	3965	-	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		1120					B2RP24|J3KMW7|O94970|Q9NPL3	Missense_Mutation	SNP	ENST00000520539.1	37	c.3359C>T	CCDS34933.1	.	.	.	.	.	.	.	.	.	.	G	24.5	4.535519	0.85812	.	.	ENSG00000104517	ENST00000520539;ENST00000220959;ENST00000521922	T;T;T	0.69306	-0.39;-0.39;-0.39	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	T	0.81273	0.4788	M	0.70595	2.14	0.80722	D	1	D;D	0.63880	0.993;0.993	D;D	0.65443	0.935;0.935	T	0.82500	-0.0426	10	0.87932	D	0	.	19.3831	0.94545	0.0:0.0:1.0:0.0	.	1114;1120	E7EMW7;O95071	.;UBR5_HUMAN	V	1120;1120;1114	ENSP00000429084:A1120V;ENSP00000220959:A1120V;ENSP00000427819:A1114V	ENSP00000220959:A1120V	A	-	2	0	UBR5	103379861	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.813000	0.99286	2.761000	0.94854	0.585000	0.79938	GCT		0.318	UBR5-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000380075.2	NM_015902		25	31	0	0	0	1	0	25	31					A	103310685	G	A	103310685	3	1	435	1	0	0	0	0	1	0	0	0	16902	971	34	3	5176	3	UBR5	8	103310685	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	17017	103310685	43053337	4090	25015											
UBR5	51366	broad.mit.edu	37	chr8	103317441	103317441	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tctgtagattctgctctaaaAcaaccgcttgctcaagattc	11	13	6	11	1	4	2	1	0	3	2	5	2	4	2	1	0	4	4	1	0	5	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:103317441A>G	ENST00000520539.1	-	21	3305	c.2699T>C	c.(2698-2700)gTt>gCt	p.V900A	UBR5_ENST00000220959.4_Missense_Mutation_p.V900A|UBR5_ENST00000521922.1_Missense_Mutation_p.V894A	NM_001282873.1|NM_015902.5	NP_001269802.1|NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5	900					cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|negative regulation of double-strand break repair (GO:2000780)|negative regulation of histone H2A K63-linked ubiquitination (GO:1901315)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of protein import into nucleus, translocation (GO:0033160)|progesterone receptor signaling pathway (GO:0050847)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|RNA binding (GO:0003723)|ubiquitin-protein transferase activity (GO:0004842)|ubiquitin-ubiquitin ligase activity (GO:0034450)|zinc ion binding (GO:0008270)			NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			CTGCTCTAAAACAACCGCTTG	0.408																																					Ovarian(131;96 1741 5634 7352 27489)	ENST00000520539.1																			0				NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124						c.(2698-2700)gTt>gCt		ubiquitin protein ligase E3 component n-recognin 5							164	161	162					8																	103317441		2203	4300	6503	SO:0001583	missense	51366				cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding	g.chr8:103317441A>G	AF006010	CCDS34933.1, CCDS64946.1	8q22	2008-06-23	2007-06-19	2007-06-19	ENSG00000104517	ENSG00000104517		"Ubiquitin protein ligase E3 component n-recognins"	16806	protein-coding gene	gene with protein product		608413	"E3 ubiquitin protein ligase, HECT domain containing, 1"	EDD1		10030672, 16055722	Standard	NM_015902		Approved	DD5, HYD, EDD, KIAA0896	uc003ykr.2	O95071	OTTHUMG00000164755	ENST00000520539.1:c.2699T>C	8.37:g.103317441A>G	ENSP00000429084:p.Val900Ala					UBR5_ENST00000220959.4_Missense_Mutation_p.V900A|UBR5_ENST00000521922.1_Missense_Mutation_p.V894A	p.V900A	NM_015902.5	NP_056986.2	O95071	UBR5_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.000442)		21	3305	-	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		900					B2RP24|J3KMW7|O94970|Q9NPL3	Missense_Mutation	SNP	ENST00000520539.1	37	c.2699T>C	CCDS34933.1	.	.	.	.	.	.	.	.	.	.	A	11.34	1.608656	0.28623	.	.	ENSG00000104517	ENST00000520539;ENST00000220959;ENST00000521922	T;T;T	0.41758	0.99;0.99;0.99	5.03	5.03	0.67393	.	0.257250	0.32372	N	0.006189	T	0.22589	0.0545	N	0.08118	0	0.47308	D	0.999385	B;B	0.14012	0.009;0.009	B;B	0.12156	0.007;0.007	T	0.08617	-1.0713	10	0.08837	T	0.75	.	14.7702	0.69671	1.0:0.0:0.0:0.0	.	894;900	E7EMW7;O95071	.;UBR5_HUMAN	A	900;900;894	ENSP00000429084:V900A;ENSP00000220959:V900A;ENSP00000427819:V894A	ENSP00000220959:V900A	V	-	2	0	UBR5	103386617	1.000000	0.71417	0.883000	0.34634	0.983000	0.72400	9.265000	0.95647	1.901000	0.55032	0.254000	0.18369	GTT		0.408	UBR5-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000380075.2	NM_015902		52	84	0	0	0	1	0	52	84					G	103317441	A	G	103317441	3	3	435	1	0	0	0	0	1	0	0	0	16902	43	2	4	5856	4	UBR5	8	103317441	Missense_Mutation	SNP	A	TCGA-XK-AAIW-01A-11D-A41K-08	6756	103317441	43046581	4091	25016											
FZD6	8323	broad.mit.edu	37	chr8	104336880	104336880	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgggaattgaccagtgtgcGcctccatgccccaacatgta	9	9	10	13	1	0	1	0	1	0	0	1	2	1	2	5	1	3	1	5	1	3	2	rs138437813		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:104336880G>A	ENST00000358755.4	+	4	863	c.546G>A	c.(544-546)gcG>gcA	p.A182A	FZD6_ENST00000540287.1_Intron|FZD6_ENST00000523739.1_Silent_p.A150A|FZD6_ENST00000522566.1_Silent_p.A182A	NM_001164616.1|NM_003506.3	NP_001158088.1|NP_003497.2	O60353	FZD6_HUMAN	frizzled class receptor 6	182					angiogenesis (GO:0001525)|axonogenesis (GO:0007409)|cell proliferation in midbrain (GO:0033278)|embryonic nail plate morphogenesis (GO:0035880)|establishment of planar polarity (GO:0001736)|G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:0007199)|gonad development (GO:0008406)|hair follicle development (GO:0001942)|inner ear morphogenesis (GO:0042472)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|neural tube closure (GO:0001843)|non-canonical Wnt signaling pathway (GO:0035567)|platelet activation (GO:0030168)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	apical part of cell (GO:0045177)|apicolateral plasma membrane (GO:0016327)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|neuron projection membrane (GO:0032589)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|ubiquitin protein ligase binding (GO:0031625)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	24			OV - Ovarian serous cystadenocarcinoma(57;2.86e-05)|STAD - Stomach adenocarcinoma(118;0.197)			ACCAGTGTGCGCCTCCATGCC	0.393													G|||	1	0.000199681	0	0	5008	,	,		16236	0		0.001	False		,,,				2504	0					ENST00000358755.4																			0				central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	24						c.(544-546)gcG>gcA		frizzled family receptor 6							85	96	92					8																	104336880		2203	4300	6503	SO:0001819	synonymous_variant	8323				angiogenesis|axonogenesis|cell proliferation in midbrain|establishment of planar polarity|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|inner ear morphogenesis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of sequence-specific DNA binding transcription factor activity|neural tube closure|non-canonical Wnt receptor signaling pathway	apical part of cell|apicolateral plasma membrane|cytoplasm|integral to plasma membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding	g.chr8:104336880G>A	AB012911	CCDS6298.1, CCDS55268.1	8q22.3-q23.1	2014-01-29	2014-01-29		ENSG00000164930	ENSG00000164930		"GPCR / Class F : Frizzled receptors"	4044	protein-coding gene	gene with protein product		603409	"frizzled (Drosophila) homolog 6", "frizzled homolog 6 (Drosophila)", "frizzled 6, seven transmembrane spanning receptor", "frizzled family receptor 6"			9480858, 14747478	Standard	NM_003506		Approved	Hfz6	uc003ylh.3	O60353	OTTHUMG00000164840	ENST00000358755.4:c.546G>A	8.37:g.104336880G>A						FZD6_ENST00000540287.1_Intron|FZD6_ENST00000523739.1_Silent_p.A150A|FZD6_ENST00000522566.1_Silent_p.A182A	p.A182A	NM_001164616.1|NM_003506.3	NP_001158088.1|NP_003497.2	O60353	FZD6_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;2.86e-05)|STAD - Stomach adenocarcinoma(118;0.197)		4	863	+			182					B4DRN0|Q6N0A5|Q6P9C3|Q8WXR9	Silent	SNP	ENST00000358755.4	37	c.546G>A	CCDS6298.1																																																																																				0.393	FZD6-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380560.1	NM_003506		5	61	0	0	0	1	0	5	61					A	104336880	G	A	104336880	2	1	435	1	0	0	0	0	0	0	0	1	6134	1074	38	1		1	FZD6	8	104336880	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	1019439	104336880	42027142	4092	25017											
CTHRC1	115908	broad.mit.edu	37	chr8	104388156	104388156	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagtgttcatggagttcatTgaattatggcatagatcttg	10	15	11	5	0	3	2	2	1	1	1	3	3	3	3	0	2	0	4	0	2	3	6			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:104388156T>C	ENST00000330295.5	+	2	483	c.341T>C	c.(340-342)tTg>tCg	p.L114S	CTHRC1_ENST00000520880.1_5'Flank|CTHRC1_ENST00000520337.1_Missense_Mutation_p.L100S|CTHRC1_ENST00000415886.2_Missense_Mutation_p.L114S	NM_138455.3	NP_612464.1	Q96CG8	CTHR1_HUMAN	collagen triple helix repeat containing 1	114					cell migration (GO:0016477)|cochlea morphogenesis (GO:0090103)|establishment of planar polarity involved in neural tube closure (GO:0090177)|inner ear receptor stereocilium organization (GO:0060122)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|ossification involved in bone remodeling (GO:0043932)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of osteoblast proliferation (GO:0033690)|positive regulation of protein binding (GO:0032092)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	collagen trimer (GO:0005581)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)				endometrium(1)|large_intestine(5)|lung(4)|ovary(1)|urinary_tract(1)	12			OV - Ovarian serous cystadenocarcinoma(57;2.79e-06)|STAD - Stomach adenocarcinoma(118;0.197)			TGGAGTTCATTGAATTATGGC	0.383																																						ENST00000330295.5																			0				endometrium(1)|large_intestine(5)|lung(4)|ovary(1)|urinary_tract(1)	12						c.(340-342)tTg>tCg		collagen triple helix repeat containing 1							56	51	53					8																	104388156		2203	4300	6503	SO:0001583	missense	115908					collagen		g.chr8:104388156T>C	BC014245	CCDS6299.1, CCDS59110.1	8q22.3	2008-08-07			ENSG00000164932	ENSG00000164932			18831	protein-coding gene	gene with protein product		610635				15618538	Standard	NM_138455		Approved		uc003ylk.4	Q96CG8	OTTHUMG00000164887	ENST00000330295.5:c.341T>C	8.37:g.104388156T>C	ENSP00000330523:p.Leu114Ser					CTHRC1_ENST00000520337.1_Missense_Mutation_p.L100S|CTHRC1_ENST00000415886.2_Missense_Mutation_p.L114S	p.L114S	NM_138455.3	NP_612464.1	Q96CG8	CTHR1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;2.79e-06)|STAD - Stomach adenocarcinoma(118;0.197)		2	483	+			114					G3V141|Q6UW91|Q8IX63	Missense_Mutation	SNP	ENST00000330295.5	37	c.341T>C	CCDS6299.1	.	.	.	.	.	.	.	.	.	.	T	21.5	4.162417	0.78226	.	.	ENSG00000164932	ENST00000330295;ENST00000415886;ENST00000520337;ENST00000297577	T;D;T	0.83914	-0.3;-1.78;0.75	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	D	0.90672	0.7074	M	0.75777	2.31	0.80722	D	1	D;D	0.89917	1.0;0.958	D;P	0.85130	0.997;0.63	D	0.91251	0.5029	10	0.56958	D	0.05	-12.5682	15.9482	0.79809	0.0:0.0:0.0:1.0	.	114;114	E7EVQ5;Q96CG8	.;CTHR1_HUMAN	S	114;114;100;100	ENSP00000330523:L114S;ENSP00000416045:L114S;ENSP00000430550:L100S	ENSP00000297577:L100S	L	+	2	0	CTHRC1	104457332	1.000000	0.71417	0.609000	0.28983	0.842000	0.47809	7.698000	0.84413	2.166000	0.68216	0.477000	0.44152	TTG		0.383	CTHRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380792.1	NM_138455		6	14	0	0	0	1	0	6	14					C	104388156	T	C	104388156	3	2	435	1	0	0	0	0	1	0	0	0	4010	1821	63	4	347	4	CTHRC1	8	104388156	Missense_Mutation	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	51276	104388156	41975866	4093	25018											
DCAF13	25879	broad.mit.edu	37	chr8	104433218	104433218	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cataggttagaatttggaatCtaactcagcggaattgtatc	13	13	9	6	1	2	1	1	0	1	1	3	3	2	3	0	3	2	2	0	3	7	6			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:104433218C>T	ENST00000297579.5	+	3	1019	c.742C>T	c.(742-744)Cta>Tta	p.L248L	DCAF13_ENST00000521971.1_Intron|DCAF13_ENST00000521999.1_Intron|DCAF13_ENST00000519682.1_Silent_p.L92L	NM_015420.6	NP_056235.4	Q9NV06	DCA13_HUMAN	DDB1 and CUL4 associated factor 13	96					protein ubiquitination (GO:0016567)|rRNA processing (GO:0006364)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(1)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	25						AATTTGGAATCTAACTCAGCG	0.363																																						ENST00000297579.5																			0				NS(1)|breast(1)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	25						c.(742-744)Cta>Tta		DDB1 and CUL4 associated factor 13							124	116	119					8																	104433218		2203	4300	6503	SO:0001819	synonymous_variant	25879				rRNA processing	CUL4 RING ubiquitin ligase complex|nucleolus|ribonucleoprotein complex		g.chr8:104433218C>T	AK074725	CCDS34934.1	8q22.3	2013-01-09	2009-07-17	2009-07-17	ENSG00000164934	ENSG00000164934		"WD repeat domain containing", "DDB1 and CUL4 associated factors"	24535	protein-coding gene	gene with protein product			"WD repeats and SOF1 domain containing"	WDSOF1		11042152	Standard	NM_015420		Approved	DKFZP564O0463, Gm83, HSPC064	uc003yln.3	Q9NV06	OTTHUMG00000164888	ENST00000297579.5:c.742C>T	8.37:g.104433218C>T						DCAF13_ENST00000519682.1_Silent_p.L92L|DCAF13_ENST00000521999.1_Intron|DCAF13_ENST00000521971.1_Intron	p.L248L	NM_015420.6	NP_056235.4	Q9NV06	DCA13_HUMAN			3	1019	+			96					Q3MII9|Q8NCH8|Q8TC51|Q96JY7|Q9NZX3	Silent	SNP	ENST00000297579.5	37	c.742C>T	CCDS34934.1																																																																																				0.363	DCAF13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380797.2	NM_015420		25	46	0	0	0	1	0	25	46					T	104433218	C	T	104433218	2	4	435	1	0	0	0	0	0	0	0	1	4266	912	32	3		3	DCAF13	8	104433218	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	45062	104433218	41930804	4094	25019											
RIMS2	9699	broad.mit.edu	37	chr8	105001555	105001555	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggaatgtggaacaggggcttCgagggacccgcactatgacc	10	6	15	10	2	0	1	0	1	0	0	1	5	0	4	2	5	1	2	2	5	3	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:105001555C>T	ENST00000436393.2	+	15	2525	c.2284C>T	c.(2284-2286)Cga>Tga	p.R762*	RIMS2_ENST00000507740.1_Nonsense_Mutation_p.R776*|RIMS2_ENST00000262231.10_Nonsense_Mutation_p.R823*|RIMS2_ENST00000406091.3_Nonsense_Mutation_p.R984*			Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	1046					calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cAMP-mediated signaling (GO:0019933)|insulin secretion (GO:0030073)|intracellular protein transport (GO:0006886)|positive regulation of gene expression (GO:0010628)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|regulation of exocytosis (GO:0017157)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	metal ion binding (GO:0046872)	p.R762*(1)|p.R776*(1)|p.R1051*(1)		NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			ACAGGGGCTTCGAGGGACCCG	0.393										HNSCC(12;0.0054)																												ENST00000507740.1																			3	Substitution - Nonsense(3)	p.R762*(1)|p.R776*(1)|p.R1051*(1)	skin(3)	NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144						c.(2326-2328)Cga>Tga		regulating synaptic membrane exocytosis 2							131	129	130					8																	105001555		1872	4101	5973	SO:0001587	stop_gained	9699				intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding	g.chr8:105001555C>T	AB018294	CCDS43761.1, CCDS64948.1, CCDS64949.1	8q22.3	2008-08-08	2002-06-12	2002-06-14					17283	protein-coding gene	gene with protein product		606630	"RAB3 interacting protein 3"	RAB3IP3		9872452, 12578829	Standard	NM_014677		Approved	KIAA0751, RIM2, OBOE	uc003ylp.3	Q9UQ26		ENST00000436393.2:c.2284C>T	8.37:g.105001555C>T	ENSP00000390665:p.Arg762*	HNSCC(12;0.0054)				RIMS2_ENST00000262231.10_Nonsense_Mutation_p.R823*|RIMS2_ENST00000436393.2_Nonsense_Mutation_p.R762*|RIMS2_ENST00000406091.3_Nonsense_Mutation_p.R984*	p.R776*	NM_014677.4	NP_055492.3	Q9UQ26	RIMS2_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)		14	2562	+			1046					B3KX91|F8WD47|O43413|Q86XL9|Q8IWV9|Q8IWW1	Nonsense_Mutation	SNP	ENST00000436393.2	37	c.2326C>T		.	.	.	.	.	.	.	.	.	.	C	37	6.359855	0.97502	.	.	ENSG00000176406	ENST00000504942;ENST00000329869;ENST00000406091;ENST00000402998;ENST00000262231;ENST00000507740;ENST00000408894;ENST00000436393	.	.	.	5.54	5.54	0.83059	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.9784	0.64287	0.1517:0.8483:0.0:0.0	.	.	.	.	X	984;999;984;1046;823;776;776;762	.	ENSP00000262231:R823X	R	+	1	2	RIMS2	105070731	0.995000	0.38212	1.000000	0.80357	0.244000	0.25665	2.337000	0.43947	2.617000	0.88574	0.484000	0.47621	CGA		0.393	RIMS2-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000367217.1	NM_001100117		43	51	0	0	0	1	0	43	51					T	105001555	C	T	105001555	4	4	435	1	0	0	0	0	0	1	0	0	13368	876	31	2	3142	2	RIMS2	8	105001555	Nonsense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	568337	105001555	41362467	4095	25020											
RIMS2	9699	broad.mit.edu	37	chr8	105260949	105260949	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tctgattttccctggtgttcGcttggcctctgatagccagt	4	16	10	11	1	2	2	0	2	2	0	4	2	3	2	3	2	1	2	3	2	1	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:105260949G>A	ENST00000436393.2	+	25	3792	c.3551G>A	c.(3550-3552)cGc>cAc	p.R1184H	RIMS2_ENST00000507740.1_Missense_Mutation_p.R980H|RIMS2_ENST00000262231.10_Missense_Mutation_p.R1005H|RIMS2_ENST00000339750.2_Missense_Mutation_p.R102H|RIMS2_ENST00000406091.3_Missense_Mutation_p.R1166H			Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	1228					calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cAMP-mediated signaling (GO:0019933)|insulin secretion (GO:0030073)|intracellular protein transport (GO:0006886)|positive regulation of gene expression (GO:0010628)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|regulation of exocytosis (GO:0017157)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	metal ion binding (GO:0046872)			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			CCTGGTGTTCGCTTGGCCTCT	0.463										HNSCC(12;0.0054)																												ENST00000507740.1																			0				NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144						c.(2938-2940)cGc>cAc		regulating synaptic membrane exocytosis 2							114	111	112					8																	105260949		2115	4257	6372	SO:0001583	missense	9699				intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding	g.chr8:105260949G>A	AB018294	CCDS43761.1, CCDS64948.1, CCDS64949.1	8q22.3	2008-08-08	2002-06-12	2002-06-14					17283	protein-coding gene	gene with protein product		606630	"RAB3 interacting protein 3"	RAB3IP3		9872452, 12578829	Standard	NM_014677		Approved	KIAA0751, RIM2, OBOE	uc003ylp.3	Q9UQ26		ENST00000436393.2:c.3551G>A	8.37:g.105260949G>A	ENSP00000390665:p.Arg1184His	HNSCC(12;0.0054)				RIMS2_ENST00000262231.10_Missense_Mutation_p.R1005H|RIMS2_ENST00000436393.2_Missense_Mutation_p.R1184H|RIMS2_ENST00000406091.3_Missense_Mutation_p.R1166H|RIMS2_ENST00000339750.2_Missense_Mutation_p.R102H	p.R980H	NM_014677.4	NP_055492.3	Q9UQ26	RIMS2_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)		19	3175	+			1228					B3KX91|F8WD47|O43413|Q86XL9|Q8IWV9|Q8IWW1	Missense_Mutation	SNP	ENST00000436393.2	37	c.2939G>A		.	.	.	.	.	.	.	.	.	.	G	26.5	4.742547	0.89573	.	.	ENSG00000176406	ENST00000329869;ENST00000406091;ENST00000402998;ENST00000262231;ENST00000507740;ENST00000408894;ENST00000436393;ENST00000523362;ENST00000339750	T;T;T;T;T;T;T	0.21191	2.55;2.25;2.25;2.02;2.45;2.06;2.04	5.34	5.34	0.76211	.	.	.	.	.	T	0.45438	0.1342	L	0.58510	1.815	0.80722	D	1	D;D;D;D;D	0.76494	0.998;0.999;0.995;0.999;0.999	D;D;D;P;P	0.74674	0.976;0.984;0.951;0.871;0.871	T	0.34502	-0.9826	9	0.72032	D	0.01	.	19.4079	0.94655	0.0:0.0:1.0:0.0	.	1228;1184;1005;980;1166	Q9UQ26;D6RA03;Q9UQ26-1;Q9UQ26-3;F8WD47	RIMS2_HUMAN;.;.;.;.	H	1203;1166;1228;1005;980;1173;1184;102;102	ENSP00000384892:R1166H;ENSP00000262231:R1005H;ENSP00000423559:R980H;ENSP00000386228:R1173H;ENSP00000390665:R1184H;ENSP00000428478:R102H;ENSP00000342051:R102H	ENSP00000262231:R1005H	R	+	2	0	RIMS2	105330125	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.809000	0.86057	2.664000	0.90586	0.650000	0.86243	CGC		0.463	RIMS2-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000367217.1	NM_001100117		34	39	0	0	0	1	0	34	39					A	105260949	G	A	105260949	3	1	435	1	0	0	0	0	1	0	0	0	13368	1087	38	1	3775	1	RIMS2	8	105260949	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	259394	105260949	41103073	4096	25021											
TM7SF4	81501	broad.mit.edu	37	chr8	105361634	105361634	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	catcatcccgactttctggcCgactcctaaagaaaggaaaa	14	8	7	12	2	2	1	1	0	1	1	4	4	4	2	3	2	0	0	3	2	5	2	rs146710492	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:105361634C>T	ENST00000297581.2	+	2	903	c.854C>T	c.(853-855)cCg>cTg	p.P285L	DPYS_ENST00000521601.1_Intron|DCSTAMP_ENST00000517991.1_Intron	NM_030788.3	NP_110415.1	Q9H295	DCSTP_HUMAN	dendrocyte expressed seven transmembrane protein	285					cellular response to interleukin-4 (GO:0071353)|cellular response to macrophage colony-stimulating factor stimulus (GO:0036006)|cellular response to tumor necrosis factor (GO:0071356)|membrane fusion (GO:0061025)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of cell growth (GO:0030308)|osteoclast differentiation (GO:0030316)|osteoclast fusion (GO:0072675)|positive regulation of bone resorption (GO:0045780)|positive regulation of macrophage fusion (GO:0034241)|positive regulation of monocyte differentiation (GO:0045657)	cell surface (GO:0009986)|endoplasmic reticulum membrane (GO:0005789)|endosome membrane (GO:0010008)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)											ACTTTCTGGCCGACTCCTAAA	0.478													C|||	2	0.000399361	0	0	5008	,	,		19823	0		0.001	False		,,,				2504	0.001					ENST00000297581.2																			0											c.(853-855)cCg>cTg		dendrocyte expressed seven transmembrane protein		C	LEU/PRO	1,4405	2.1+/-5.4	0,1,2202	100	106	104		854	-0.8	0	8	dbSNP_134	104	8,8592	6.4+/-24.3	0,8,4292	yes	missense	TM7SF4	NM_030788.2	98	0,9,6494	TT,TC,CC		0.093,0.0227,0.0692	benign	285/471	105361634	9,12997	2203	4300	6503	SO:0001583	missense	81501				osteoclast differentiation	cell surface|integral to membrane|plasma membrane		g.chr8:105361634C>T	AF305068	CCDS6301.1, CCDS59111.1	8q22.3	2012-08-10	2012-03-27	2012-03-27	ENSG00000164935	ENSG00000164935			18549	protein-coding gene	gene with protein product	"Dendritic cells (DC)-specific transmembrane protein", "IL-Four INDuced"	605933	"transmembrane 7 superfamily member 4"	TM7SF4		11169400, 11345591	Standard	NM_030788		Approved	DC-STAMP, FIND	uc003ylx.2	Q9H295	OTTHUMG00000164890	ENST00000297581.2:c.854C>T	8.37:g.105361634C>T	ENSP00000297581:p.Pro285Leu					DCSTAMP_ENST00000517991.1_Intron|DPYS_ENST00000521601.1_Intron	p.P285L	NM_030788.3	NP_110415.1	Q9H295	TM7S4_HUMAN			2	903	+			285					B7ZVW2|E7ESG0|Q2M2D5	Missense_Mutation	SNP	ENST00000297581.2	37	c.854C>T	CCDS6301.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	0.003	-2.433178	0.00182	2.27E-4	9.3E-4	ENSG00000164935	ENST00000297581	T	0.22945	1.93	5.5	-0.751	0.11076	Dendritic cell-specific transmembrane protein-like (1);	0.554792	0.19116	N	0.122317	T	0.06690	0.0171	N	0.01640	-0.785	0.09310	N	1	B	0.11235	0.004	B	0.08055	0.003	T	0.36866	-0.9730	9	.	.	.	1.0087	5.489	0.16765	0.1342:0.3851:0.0:0.4806	.	285	Q9H295	TM7S4_HUMAN	L	285	ENSP00000297581:P285L	.	P	+	2	0	TM7SF4	105430810	0.152000	0.22762	0.002000	0.10522	0.086000	0.17979	0.576000	0.23744	-0.130000	0.11599	-0.378000	0.06908	CCG		0.478	DCSTAMP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380810.1	NM_030788		40	53	0	0	0	1	0	40	53					T	105361634	C	T	105361634	3	4	435	1	0	0	0	0	1	0	0	0	15973	652	23	2	856	2	TM7SF4	8	105361634	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	100685	105361634	41002388	4097	25022											
LRP12	29967	broad.mit.edu	37	chr8	105503410	105503410	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agttgaggaacttgcacatgCtcctactgtcgcttctactg	8	13	9	11	1	1	1	0	1	1	0	3	2	2	2	1	1	5	4	1	1	3	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:105503410C>T	ENST00000276654.5	-	7	2179	c.2071G>A	c.(2071-2073)Gca>Aca	p.A691T	LRP12_ENST00000518375.1_5'UTR|LRP12_ENST00000424843.2_Missense_Mutation_p.A672T	NM_013437.4	NP_038465.1	Q9Y561	LRP12_HUMAN	low density lipoprotein receptor-related protein 12	691					endocytosis (GO:0006897)|receptor-mediated endocytosis (GO:0006898)|regulation of growth (GO:0040008)|signal transduction (GO:0007165)	coated pit (GO:0005905)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	low-density lipoprotein receptor activity (GO:0005041)			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48			OV - Ovarian serous cystadenocarcinoma(57;1.21e-06)|STAD - Stomach adenocarcinoma(118;0.229)			CTTGCACATGCTCCTACTGTC	0.517																																						ENST00000276654.5																			0				NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48						c.(2071-2073)Gca>Aca		low density lipoprotein receptor-related protein 12							97	83	88					8																	105503410		2203	4300	6503	SO:0001583	missense	29967				endocytosis|regulation of growth	coated pit|integral to plasma membrane	low-density lipoprotein receptor activity|protein binding	g.chr8:105503410C>T	AF166350	CCDS6303.1, CCDS47907.1	8q22.2	2013-02-27	2010-01-26		ENSG00000147650	ENSG00000147650		"Low density lipoprotein receptors"	31708	protein-coding gene	gene with protein product						12809483, 14676824	Standard	NM_013437		Approved	ST7, FLJ12929	uc003yma.3	Q9Y561	OTTHUMG00000164892	ENST00000276654.5:c.2071G>A	8.37:g.105503410C>T	ENSP00000276654:p.Ala691Thr					LRP12_ENST00000424843.2_Missense_Mutation_p.A672T|LRP12_ENST00000518375.1_5'UTR	p.A691T	NM_013437.4	NP_038465.1	Q9Y561	LRP12_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;1.21e-06)|STAD - Stomach adenocarcinoma(118;0.229)		7	2179	-			691					A8K137|B4DRQ2	Missense_Mutation	SNP	ENST00000276654.5	37	c.2071G>A	CCDS6303.1	.	.	.	.	.	.	.	.	.	.	C	11.79	1.745160	0.30955	.	.	ENSG00000147650	ENST00000424843;ENST00000276654;ENST00000520873	D;D	0.83755	-1.76;-1.7	5.49	3.68	0.42216	.	0.265106	0.43919	N	0.000517	T	0.69611	0.3130	N	0.19112	0.55	0.37144	D	0.901861	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.64093	-0.6488	10	0.29301	T	0.29	-13.3034	10.6163	0.45451	0.1334:0.7978:0.0:0.0688	.	672;691	Q9Y561-2;Q9Y561	.;LRP12_HUMAN	T	672;691;56	ENSP00000399148:A672T;ENSP00000276654:A691T	ENSP00000276654:A691T	A	-	1	0	LRP12	105572586	0.519000	0.26242	0.795000	0.32087	0.720000	0.41350	1.544000	0.36158	0.780000	0.33566	0.650000	0.86243	GCA		0.517	LRP12-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380821.1	NM_013437		18	31	0	0	0	1	0	18	31					T	105503410	C	T	105503410	3	4	435	1	0	0	0	0	1	0	0	0	8954	797	28	3	512	3	LRP12	8	105503410	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	141776	105503410	40860612	4098	25023											
LRP12	29967	broad.mit.edu	37	chr8	105503421	105503421	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttgcacatgctcctactgtcGcttctactgccgttgtggga	5	14	10	12	2	1	0	0	0	1	0	3	1	2	1	2	1	5	4	2	1	2	5	rs190890755		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:105503421G>A	ENST00000276654.5	-	7	2168	c.2060C>T	c.(2059-2061)gCg>gTg	p.A687V	LRP12_ENST00000518375.1_5'UTR|LRP12_ENST00000424843.2_Missense_Mutation_p.A668V	NM_013437.4	NP_038465.1	Q9Y561	LRP12_HUMAN	low density lipoprotein receptor-related protein 12	687					endocytosis (GO:0006897)|receptor-mediated endocytosis (GO:0006898)|regulation of growth (GO:0040008)|signal transduction (GO:0007165)	coated pit (GO:0005905)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	low-density lipoprotein receptor activity (GO:0005041)			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48			OV - Ovarian serous cystadenocarcinoma(57;1.21e-06)|STAD - Stomach adenocarcinoma(118;0.229)			TCCTACTGTCGCTTCTACTGC	0.507													G|||	1	0.000199681	8e-04	0	5008	,	,		18223	0		0	False		,,,				2504	0					ENST00000276654.5																			0				NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48						c.(2059-2061)gCg>gTg		low density lipoprotein receptor-related protein 12							91	80	84					8																	105503421		2203	4300	6503	SO:0001583	missense	29967				endocytosis|regulation of growth	coated pit|integral to plasma membrane	low-density lipoprotein receptor activity|protein binding	g.chr8:105503421G>A	AF166350	CCDS6303.1, CCDS47907.1	8q22.2	2013-02-27	2010-01-26		ENSG00000147650	ENSG00000147650		"Low density lipoprotein receptors"	31708	protein-coding gene	gene with protein product						12809483, 14676824	Standard	NM_013437		Approved	ST7, FLJ12929	uc003yma.3	Q9Y561	OTTHUMG00000164892	ENST00000276654.5:c.2060C>T	8.37:g.105503421G>A	ENSP00000276654:p.Ala687Val					LRP12_ENST00000424843.2_Missense_Mutation_p.A668V|LRP12_ENST00000518375.1_5'UTR	p.A687V	NM_013437.4	NP_038465.1	Q9Y561	LRP12_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;1.21e-06)|STAD - Stomach adenocarcinoma(118;0.229)		7	2168	-			687					A8K137|B4DRQ2	Missense_Mutation	SNP	ENST00000276654.5	37	c.2060C>T	CCDS6303.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	18.49	3.635488	0.67130	.	.	ENSG00000147650	ENST00000424843;ENST00000276654;ENST00000520873	D;D	0.86627	-2.15;-2.08	5.49	5.49	0.81192	.	0.046422	0.85682	D	0.000000	D	0.84714	0.5533	N	0.24115	0.695	0.80722	D	1	D;D	0.64830	0.994;0.989	P;P	0.49561	0.615;0.55	D	0.83881	0.0279	10	0.33940	T	0.23	-20.9411	19.7571	0.96298	0.0:0.0:1.0:0.0	.	668;687	Q9Y561-2;Q9Y561	.;LRP12_HUMAN	V	668;687;52	ENSP00000399148:A668V;ENSP00000276654:A687V	ENSP00000276654:A687V	A	-	2	0	LRP12	105572597	1.000000	0.71417	0.941000	0.38009	0.888000	0.51559	5.989000	0.70587	2.744000	0.94065	0.650000	0.86243	GCG		0.507	LRP12-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380821.1	NM_013437		16	32	0	0	0	1	0	16	32					A	105503421	G	A	105503421	3	1	435	1	0	0	0	0	1	0	0	0	8954	1087	38	1	523	1	LRP12	8	105503421	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	11	105503421	40860601	4099	25024											
LRP12	29967	broad.mit.edu	37	chr8	105509341	105509341	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgggcaattttcttcatcgCtgccatcaccacagtcatct	8	13	6	14	1	5	0	3	0	2	0	6	0	5	0	2	1	1	2	2	1	1	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:105509341C>T	ENST00000276654.5	-	5	1547	c.1439G>A	c.(1438-1440)aGc>aAc	p.S480N	LRP12_ENST00000518375.1_5'Flank|LRP12_ENST00000424843.2_Missense_Mutation_p.S461N	NM_013437.4	NP_038465.1	Q9Y561	LRP12_HUMAN	low density lipoprotein receptor-related protein 12	480	LDL-receptor class A 5. {ECO:0000255|PROSITE-ProRule:PRU00124}.				endocytosis (GO:0006897)|receptor-mediated endocytosis (GO:0006898)|regulation of growth (GO:0040008)|signal transduction (GO:0007165)	coated pit (GO:0005905)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	low-density lipoprotein receptor activity (GO:0005041)			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48			OV - Ovarian serous cystadenocarcinoma(57;1.21e-06)|STAD - Stomach adenocarcinoma(118;0.229)			TTCTTCATCGCTGCCATCACC	0.448																																						ENST00000276654.5																			0				NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48						c.(1438-1440)aGc>aAc		low density lipoprotein receptor-related protein 12							145	122	130					8																	105509341		2203	4300	6503	SO:0001583	missense	29967				endocytosis|regulation of growth	coated pit|integral to plasma membrane	low-density lipoprotein receptor activity|protein binding	g.chr8:105509341C>T	AF166350	CCDS6303.1, CCDS47907.1	8q22.2	2013-02-27	2010-01-26		ENSG00000147650	ENSG00000147650		"Low density lipoprotein receptors"	31708	protein-coding gene	gene with protein product						12809483, 14676824	Standard	NM_013437		Approved	ST7, FLJ12929	uc003yma.3	Q9Y561	OTTHUMG00000164892	ENST00000276654.5:c.1439G>A	8.37:g.105509341C>T	ENSP00000276654:p.Ser480Asn					LRP12_ENST00000424843.2_Missense_Mutation_p.S461N	p.S480N	NM_013437.4	NP_038465.1	Q9Y561	LRP12_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;1.21e-06)|STAD - Stomach adenocarcinoma(118;0.229)		5	1547	-			480			LDL-receptor class A 5.		A8K137|B4DRQ2	Missense_Mutation	SNP	ENST00000276654.5	37	c.1439G>A	CCDS6303.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.027335	0.75390	.	.	ENSG00000147650	ENST00000424843;ENST00000276654;ENST00000523007	D;D;D	0.97791	-4.54;-4.54;-4.54	5.79	5.79	0.91817	Low-density lipoprotein (LDL) receptor class A, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.99363	0.9776	H	0.98446	4.235	0.80722	D	1	D;D	0.62365	0.989;0.991	D;D	0.76575	0.979;0.988	D	0.98417	1.0575	10	0.87932	D	0	-27.3808	20.0498	0.97621	0.0:1.0:0.0:0.0	.	461;480	Q9Y561-2;Q9Y561	.;LRP12_HUMAN	N	461;480;69	ENSP00000399148:S461N;ENSP00000276654:S480N;ENSP00000429305:S69N	ENSP00000276654:S480N	S	-	2	0	LRP12	105578517	1.000000	0.71417	0.964000	0.40570	0.837000	0.47467	4.884000	0.63135	2.753000	0.94483	0.557000	0.71058	AGC		0.448	LRP12-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380821.1	NM_013437		27	48	0	0	0	1	0	27	48					T	105509341	C	T	105509341	3	4	435	1	0	0	0	0	1	0	0	0	8954	797	28	3	1152	3	LRP12	8	105509341	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	5920	105509341	40854681	4100	25025											
ZFPM2	23414	broad.mit.edu	37	chr8	106814118	106814118	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tcccaacactggccaaacctCcataaaccttctcaacccag	13	7	3	18	0	1	0	1	0	1	0	4	0	3	0	6	1	4	0	6	1	5	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:106814118C>T	ENST00000407775.2	+	8	2058	c.1808C>T	c.(1807-1809)tCc>tTc	p.S603F	RP11-152P17.2_ENST00000520433.1_RNA|RP11-152P17.2_ENST00000518932.1_RNA|ZFPM2_ENST00000522296.1_3'UTR|RP11-152P17.2_ENST00000520594.1_RNA|ZFPM2_ENST00000517361.1_Missense_Mutation_p.S471F|RP11-152P17.2_ENST00000521622.1_RNA|RP11-152P17.2_ENST00000509144.2_RNA|ZFPM2_ENST00000378472.4_Missense_Mutation_p.S334F|RP11-152P17.2_ENST00000524045.2_RNA|ZFPM2_ENST00000520492.1_Missense_Mutation_p.S471F	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	zinc finger protein, FOG family member 2	603					blood coagulation (GO:0007596)|embryonic organ development (GO:0048568)|gonadal mesoderm development (GO:0007506)|in utero embryonic development (GO:0001701)|lung development (GO:0030324)|negative regulation of cell death (GO:0060548)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of female gonad development (GO:2000195)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract septum morphogenesis (GO:0003148)|positive regulation of male gonad development (GO:2000020)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|right ventricular cardiac muscle tissue morphogenesis (GO:0003221)|vasculogenesis (GO:0001570)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|nucleic acid binding transcription factor activity (GO:0001071)|RNA polymerase II transcription coactivator activity (GO:0001105)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			GGCCAAACCTCCATAAACCTT	0.468																																						ENST00000407775.2																			0				NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99						c.(1807-1809)tCc>tTc		zinc finger protein, FOG family member 2							112	111	112					8																	106814118		1943	4154	6097	SO:0001583	missense	23414				blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding	g.chr8:106814118C>T	AF119334	CCDS47908.1	8q23	2013-01-10	2012-11-27		ENSG00000169946	ENSG00000169946		"Zinc fingers, C2H2-type", "Zinc fingers, C2HC-type containing"	16700	protein-coding gene	gene with protein product		603693	"zinc finger protein, multitype 2"			9927675, 10438528	Standard	NM_012082		Approved	FOG2, hFOG-2, ZNF89B, ZC2HC11B	uc003ymd.3	Q8WW38	OTTHUMG00000164818	ENST00000407775.2:c.1808C>T	8.37:g.106814118C>T	ENSP00000384179:p.Ser603Phe					ZFPM2_ENST00000378472.4_Missense_Mutation_p.S334F|RP11-152P17.2_ENST00000520594.1_RNA|RP11-152P17.2_ENST00000524045.2_RNA|RP11-152P17.2_ENST00000509144.2_RNA|ZFPM2_ENST00000517361.1_Missense_Mutation_p.S471F|RP11-152P17.2_ENST00000521622.1_RNA|RP11-152P17.2_ENST00000520433.1_RNA|ZFPM2_ENST00000520492.1_Missense_Mutation_p.S471F|RP11-152P17.2_ENST00000518932.1_RNA|ZFPM2_ENST00000522296.1_3'UTR	p.S603F	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)		8	2058	+			603					Q32MA6|Q9NPL7|Q9NPS4|Q9UNI5	Missense_Mutation	SNP	ENST00000407775.2	37	c.1808C>T	CCDS47908.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.239121	0.79800	.	.	ENSG00000169946	ENST00000407775;ENST00000520492;ENST00000517361;ENST00000378472	T;T;T;T	0.23147	1.92;2.25;2.25;3.61	5.74	5.74	0.90152	.	0.000000	0.85682	D	0.000000	T	0.27278	0.0669	L	0.29908	0.895	0.80722	D	1	D	0.56035	0.974	P	0.45506	0.483	T	0.01042	-1.1471	10	0.48119	T	0.1	.	19.9094	0.97021	0.0:1.0:0.0:0.0	.	603	Q8WW38	FOG2_HUMAN	F	603;471;471;334	ENSP00000384179:S603F;ENSP00000430757:S471F;ENSP00000428720:S471F;ENSP00000367733:S334F	ENSP00000367733:S334F	S	+	2	0	ZFPM2	106883294	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.798000	0.85924	2.715000	0.92844	0.655000	0.94253	TCC		0.468	ZFPM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380614.1			38	45	0	0	0	1	0	38	45					T	106814118	C	T	106814118	3	4	435	1	0	0	0	0	1	0	0	0	17655	855	30	3	1838	3	ZFPM2	8	106814118	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	1304777	106814118	39549904	4101	25026											
ZFPM2	23414	broad.mit.edu	37	chr8	106814712	106814712	+	Missense_Mutation	SNP	C	C	T																															tgtctctaaacacttggaaaCttctctgacgatcaacaagt																										TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:106814712C>T	ENST00000407775.2	+	8	2652	c.2402C>T	c.(2401-2403)aCt>aTt	p.T801I	RP11-152P17.2_ENST00000520433.1_RNA|RP11-152P17.2_ENST00000518932.1_RNA|ZFPM2_ENST00000522296.1_3'UTR|RP11-152P17.2_ENST00000520594.1_RNA|ZFPM2_ENST00000517361.1_Missense_Mutation_p.T669I|RP11-152P17.2_ENST00000521622.1_RNA|RP11-152P17.2_ENST00000509144.2_RNA|ZFPM2_ENST00000378472.4_Missense_Mutation_p.T532I|RP11-152P17.2_ENST00000524045.2_RNA|ZFPM2_ENST00000520492.1_Missense_Mutation_p.T669I	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	zinc finger protein, FOG family member 2	801					blood coagulation (GO:0007596)|embryonic organ development (GO:0048568)|gonadal mesoderm development (GO:0007506)|in utero embryonic development (GO:0001701)|lung development (GO:0030324)|negative regulation of cell death (GO:0060548)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of female gonad development (GO:2000195)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract septum morphogenesis (GO:0003148)|positive regulation of male gonad development (GO:2000020)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|right ventricular cardiac muscle tissue morphogenesis (GO:0003221)|vasculogenesis (GO:0001570)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|nucleic acid binding transcription factor activity (GO:0001071)|RNA polymerase II transcription coactivator activity (GO:0001105)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			CACTTGGAAACTTCTCTGACG	0.448																																						ENST00000407775.2																			0				NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99						c.(2401-2403)aCt>aTt		zinc finger protein, FOG family member 2							55	53	54					8																	106814712		1918	4145	6063	SO:0001583	missense	23414				blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding	g.chr8:106814712C>T	AF119334	CCDS47908.1	8q23	2013-01-10	2012-11-27		ENSG00000169946	ENSG00000169946		"Zinc fingers, C2H2-type", "Zinc fingers, C2HC-type containing"	16700	protein-coding gene	gene with protein product		603693	"zinc finger protein, multitype 2"			9927675, 10438528	Standard	NM_012082		Approved	FOG2, hFOG-2, ZNF89B, ZC2HC11B	uc003ymd.3	Q8WW38	OTTHUMG00000164818	ENST00000407775.2:c.2402C>T	8.37:g.106814712C>T	ENSP00000384179:p.Thr801Ile					ZFPM2_ENST00000378472.4_Missense_Mutation_p.T532I|RP11-152P17.2_ENST00000520594.1_RNA|RP11-152P17.2_ENST00000524045.2_RNA|RP11-152P17.2_ENST00000509144.2_RNA|ZFPM2_ENST00000517361.1_Missense_Mutation_p.T669I|RP11-152P17.2_ENST00000521622.1_RNA|RP11-152P17.2_ENST00000520433.1_RNA|ZFPM2_ENST00000520492.1_Missense_Mutation_p.T669I|RP11-152P17.2_ENST00000518932.1_RNA|ZFPM2_ENST00000522296.1_3'UTR	p.T801I	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)		8	2652	+			801					Q32MA6|Q9NPL7|Q9NPS4|Q9UNI5	Missense_Mutation	SNP	ENST00000407775.2	37	c.2402C>T	CCDS47908.1	.	.	.	.	.	.	.	.	.	.	C	16.37	3.104642	0.56291	.	.	ENSG00000169946	ENST00000407775;ENST00000520492;ENST00000517361;ENST00000378472	T;T;T;T	0.20332	2.08;2.51;2.51;3.72	5.72	5.72	0.89469	.	0.091405	0.85682	D	0.000000	T	0.17365	0.0417	N	0.22421	0.69	0.58432	D	0.999997	P	0.38922	0.651	B	0.33521	0.165	T	0.02404	-1.1164	10	0.59425	D	0.04	.	19.88	0.96892	0.0:1.0:0.0:0.0	.	801	Q8WW38	FOG2_HUMAN	I	801;669;669;532	ENSP00000384179:T801I;ENSP00000430757:T669I;ENSP00000428720:T669I;ENSP00000367733:T532I	ENSP00000367733:T532I	T	+	2	0	ZFPM2	106883888	1.000000	0.71417	0.958000	0.39756	0.969000	0.65631	7.487000	0.81328	2.708000	0.92522	0.561000	0.74099	ACT		0.448	ZFPM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380614.1			7	18	0	0	0	1	0	7	18					T	106814712	C	T	106814712	3	4	435	1	0	0	0	0	1	0	0	0	17655	565	20	3	2432	3	ZFPM2	8	106814712	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	594	106814712	39549310	4102	25027	117	2									
ZFPM2	23414	broad.mit.edu	37	chr8	106814722	106814722	+	Silent	SNP	G	G	A																															cacttggaaacttctctgacGatcaacaagtgtgttccagt																										TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:106814722G>A	ENST00000407775.2	+	8	2662	c.2412G>A	c.(2410-2412)acG>acA	p.T804T	RP11-152P17.2_ENST00000520433.1_RNA|RP11-152P17.2_ENST00000518932.1_RNA|ZFPM2_ENST00000522296.1_3'UTR|RP11-152P17.2_ENST00000520594.1_RNA|ZFPM2_ENST00000517361.1_Silent_p.T672T|RP11-152P17.2_ENST00000521622.1_RNA|RP11-152P17.2_ENST00000509144.2_RNA|ZFPM2_ENST00000378472.4_Silent_p.T535T|RP11-152P17.2_ENST00000524045.2_RNA|ZFPM2_ENST00000520492.1_Silent_p.T672T	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	zinc finger protein, FOG family member 2	804					blood coagulation (GO:0007596)|embryonic organ development (GO:0048568)|gonadal mesoderm development (GO:0007506)|in utero embryonic development (GO:0001701)|lung development (GO:0030324)|negative regulation of cell death (GO:0060548)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of female gonad development (GO:2000195)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract septum morphogenesis (GO:0003148)|positive regulation of male gonad development (GO:2000020)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|right ventricular cardiac muscle tissue morphogenesis (GO:0003221)|vasculogenesis (GO:0001570)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|nucleic acid binding transcription factor activity (GO:0001071)|RNA polymerase II transcription coactivator activity (GO:0001105)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.T804T(1)		NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			CTTCTCTGACGATCAACAAGT	0.443																																						ENST00000407775.2																			1	Substitution - coding silent(1)	p.T804T(1)	lung(1)	NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99						c.(2410-2412)acG>acA		zinc finger protein, FOG family member 2							53	50	51					8																	106814722		1931	4150	6081	SO:0001819	synonymous_variant	23414				blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding	g.chr8:106814722G>A	AF119334	CCDS47908.1	8q23	2013-01-10	2012-11-27		ENSG00000169946	ENSG00000169946		"Zinc fingers, C2H2-type", "Zinc fingers, C2HC-type containing"	16700	protein-coding gene	gene with protein product		603693	"zinc finger protein, multitype 2"			9927675, 10438528	Standard	NM_012082		Approved	FOG2, hFOG-2, ZNF89B, ZC2HC11B	uc003ymd.3	Q8WW38	OTTHUMG00000164818	ENST00000407775.2:c.2412G>A	8.37:g.106814722G>A						ZFPM2_ENST00000378472.4_Silent_p.T535T|RP11-152P17.2_ENST00000520594.1_RNA|RP11-152P17.2_ENST00000524045.2_RNA|RP11-152P17.2_ENST00000509144.2_RNA|ZFPM2_ENST00000517361.1_Silent_p.T672T|RP11-152P17.2_ENST00000521622.1_RNA|RP11-152P17.2_ENST00000520433.1_RNA|ZFPM2_ENST00000520492.1_Silent_p.T672T|RP11-152P17.2_ENST00000518932.1_RNA|ZFPM2_ENST00000522296.1_3'UTR	p.T804T	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)		8	2662	+			804					Q32MA6|Q9NPL7|Q9NPS4|Q9UNI5	Silent	SNP	ENST00000407775.2	37	c.2412G>A	CCDS47908.1																																																																																				0.443	ZFPM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380614.1			6	15	0	0	0	1	0	6	15					A	106814722	G	A	106814722	2	1	435	1	0	0	0	0	0	0	0	1	17655	1045	37	2		2	ZFPM2	8	106814722	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	10	106814722	39549300	4103	25028	117	2									
OXR1	55074	broad.mit.edu	37	chr8	107715136	107715136	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttcttttttcaccttagggCacagtcagtggtgtgctgct	5	17	10	9	0	3	0	2	0	1	0	3	0	3	0	1	2	2	3	1	2	1	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:107715136C>T	ENST00000442977.2	+	7	780	c.681C>T	c.(679-681)ggC>ggT	p.G227G	OXR1_ENST00000531443.1_Silent_p.G226G|OXR1_ENST00000312046.6_Silent_p.G219G|OXR1_ENST00000517566.2_Silent_p.G226G|OXR1_ENST00000445937.1_Silent_p.G226G|OXR1_ENST00000452423.2_5'UTR|OXR1_ENST00000497705.1_Silent_p.G159G	NM_001198532.1	NP_001185461.1	Q8N573	OXR1_HUMAN	oxidation resistance 1	227	GRAM.				adult walking behavior (GO:0007628)|cellular response to hydroperoxide (GO:0071447)|negative regulation of neuron apoptotic process (GO:0043524)|response to oxidative stress (GO:0006979)	mitochondrion (GO:0005739)|nucleolus (GO:0005730)	oxidoreductase activity (GO:0016491)			NS(2)|breast(2)|endometrium(2)|large_intestine(9)|lung(10)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	31			OV - Ovarian serous cystadenocarcinoma(57;1.81e-09)			CACCTTAGGGCACAGTCAGTG	0.343																																						ENST00000445937.1																			0				NS(2)|breast(2)|endometrium(2)|large_intestine(9)|lung(10)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	31						c.(676-678)ggC>ggT		oxidation resistance 1							77	74	75					8																	107715136		2203	4300	6503	SO:0001819	synonymous_variant	55074				cell wall macromolecule catabolic process|response to oxidative stress	mitochondrion		g.chr8:107715136C>T	AF309387	CCDS6304.2, CCDS47909.1, CCDS56547.1, CCDS56548.1, CCDS56549.1, CCDS56550.1	8q23	2013-03-14			ENSG00000164830	ENSG00000164830			15822	protein-coding gene	gene with protein product	"TBC/LysM-associated domain containing 3"	605609				11114193	Standard	NM_181354		Approved	TLDC3	uc011lht.2	Q8N573	OTTHUMG00000167682	ENST00000442977.2:c.681C>T	8.37:g.107715136C>T						OXR1_ENST00000517566.2_Silent_p.G226G|OXR1_ENST00000312046.6_Silent_p.G219G|OXR1_ENST00000531443.1_Silent_p.G226G|OXR1_ENST00000442977.2_Silent_p.G227G|OXR1_ENST00000452423.2_5'UTR|OXR1_ENST00000497705.1_Silent_p.G159G	p.G226G	NM_018002.3	NP_060472.2	Q8N573	OXR1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;1.81e-09)		8	939	+			227			GRAM.		A6NK11|A8KA34|B3KXL1|B7Z402|B7Z8N5|D3HIS6|Q3LIB5|Q6ZVK9|Q8N8V0|Q9H266|Q9NWC7	Silent	SNP	ENST00000442977.2	37	c.678C>T	CCDS56548.1	.	.	.	.	.	.	.	.	.	.	C	7.964	0.747532	0.15710	.	.	ENSG00000164830	ENST00000517455	.	.	.	5.27	-2.3	0.06785	.	.	.	.	.	T	0.48314	0.1493	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.38866	-0.9641	4	.	.	.	-20.8703	5.1693	0.15101	0.2944:0.254:0.0:0.4516	.	.	.	.	V	143	.	.	A	+	2	0	OXR1	107784312	0.966000	0.33281	0.982000	0.44146	0.954000	0.61252	0.003000	0.13083	-0.430000	0.07318	-0.142000	0.14014	GCA		0.343	OXR1-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_181354		13	25	0	0	0	1	0	13	25					T	107715136	C	T	107715136	2	4	435	1	0	0	0	0	0	0	0	1	11334	697	25	3		3	OXR1	8	107715136	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	900414	107715136	38648886	4104	25029											
RSPO2	340419	broad.mit.edu	37	chr8	108970442	108970442	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cccatttaaatccacatgtgCgattatttctgctacaagtt	11	15	5	10	1	1	0	0	0	1	0	2	1	2	0	2	0	3	2	2	0	5	6			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:108970442C>T	ENST00000276659.5	-	5	1102	c.482G>A	c.(481-483)cGc>cAc	p.R161H	RSPO2_ENST00000378439.2_Missense_Mutation_p.R97H|RSPO2_ENST00000517781.1_Missense_Mutation_p.R97H|RSPO2_ENST00000517939.1_Missense_Mutation_p.R94H	NM_178565.4	NP_848660.3	Q6UXX9	RSPO2_HUMAN	R-spondin 2	161	TSP type-1. {ECO:0000255|PROSITE- ProRule:PRU00210}.				bone mineralization (GO:0030282)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|lung growth (GO:0060437)|osteoblast differentiation (GO:0001649)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|trachea cartilage morphogenesis (GO:0060535)|Wnt signaling pathway (GO:0016055)	cell surface (GO:0009986)|extracellular region (GO:0005576)	heparin binding (GO:0008201)|receptor binding (GO:0005102)		EIF3E/RSPO2(6)	haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	28			OV - Ovarian serous cystadenocarcinoma(57;1.55e-09)			TCCACATGTGCGATTATTTCT	0.388																																						ENST00000276659.5																		EIF3E/RSPO2(6)	0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	28						c.(481-483)cGc>cAc		R-spondin 2							174	164	168					8																	108970442		2203	4300	6503	SO:0001583	missense	340419				Wnt receptor signaling pathway	extracellular region	heparin binding	g.chr8:108970442C>T	AK123023	CCDS6307.1, CCDS64953.1	8q23.1	2014-01-30	2011-06-29		ENSG00000147655	ENSG00000147655		"Endogenous ligands"	28583	protein-coding gene	gene with protein product		610575	"R-spondin 2 homolog (Xenopus laevis)"			15469841	Standard	NM_178565		Approved	MGC35555	uc003yms.3	Q6UXX9	OTTHUMG00000164893	ENST00000276659.5:c.482G>A	8.37:g.108970442C>T	ENSP00000276659:p.Arg161His					RSPO2_ENST00000378439.2_Missense_Mutation_p.R97H|RSPO2_ENST00000517781.1_Missense_Mutation_p.R97H|RSPO2_ENST00000517939.1_Missense_Mutation_p.R94H	p.R161H	NM_178565.4	NP_848660.3	Q6UXX9	RSPO2_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;1.55e-09)		5	1102	-			161			TSP type-1.		B3KVP0|Q4G0U4|Q8N6X6	Missense_Mutation	SNP	ENST00000276659.5	37	c.482G>A	CCDS6307.1	.	.	.	.	.	.	.	.	.	.	C	24.1	4.494208	0.85069	.	.	ENSG00000147655	ENST00000517939;ENST00000517781;ENST00000378439;ENST00000276659;ENST00000521502	T;T;T;T;T	0.79653	-1.29;-1.29;-1.29;-1.29;-1.29	5.74	5.74	0.90152	.	0.094859	0.64402	D	0.000001	T	0.75376	0.3841	L	0.31752	0.955	0.46011	D	0.99881	P;D	0.59767	0.938;0.986	B;P	0.48454	0.365;0.578	T	0.76995	-0.2752	10	0.59425	D	0.04	-5.4334	11.3178	0.49403	0.0:0.8904:0.0:0.1096	.	161;97	Q6UXX9;Q6UXX9-3	RSPO2_HUMAN;.	H	94;97;97;161;94	ENSP00000428940:R94H;ENSP00000427937:R97H;ENSP00000367698:R97H;ENSP00000276659:R161H;ENSP00000428614:R94H	ENSP00000276659:R161H	R	-	2	0	RSPO2	109039618	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.038000	0.49783	2.873000	0.98535	0.563000	0.77884	CGC		0.388	RSPO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380830.1	NM_178565		25	50	0	0	0	1	0	25	50					T	108970442	C	T	108970442	3	4	435	1	0	0	0	0	1	0	0	0	13710	768	27	1	257	1	RSPO2	8	108970442	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	1255306	108970442	37393580	4105	25030											
RSPO2	340419	broad.mit.edu	37	chr8	109001440	109001440	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcctttgaacaagacaaacAacccttgcaaatgggatttg	14	10	8	9	0	0	2	0	1	0	1	1	3	1	3	2	1	4	1	2	1	5	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:109001440A>G	ENST00000276659.5	-	3	747	c.127T>C	c.(127-129)Tgt>Cgt	p.C43R	RSPO2_ENST00000378439.2_Intron|RSPO2_ENST00000517781.1_Intron|RSPO2_ENST00000517939.1_5'UTR	NM_178565.4	NP_848660.3	Q6UXX9	RSPO2_HUMAN	R-spondin 2	43					bone mineralization (GO:0030282)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|lung growth (GO:0060437)|osteoblast differentiation (GO:0001649)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|trachea cartilage morphogenesis (GO:0060535)|Wnt signaling pathway (GO:0016055)	cell surface (GO:0009986)|extracellular region (GO:0005576)	heparin binding (GO:0008201)|receptor binding (GO:0005102)		EIF3E/RSPO2(6)	haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	28			OV - Ovarian serous cystadenocarcinoma(57;1.55e-09)			CAAGACAAACAACCCTTGCAA	0.383																																						ENST00000276659.5																		EIF3E/RSPO2(6)	0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	28						c.(127-129)Tgt>Cgt		R-spondin 2							93	80	84					8																	109001440		2203	4300	6503	SO:0001583	missense	340419				Wnt receptor signaling pathway	extracellular region	heparin binding	g.chr8:109001440A>G	AK123023	CCDS6307.1, CCDS64953.1	8q23.1	2014-01-30	2011-06-29		ENSG00000147655	ENSG00000147655		"Endogenous ligands"	28583	protein-coding gene	gene with protein product		610575	"R-spondin 2 homolog (Xenopus laevis)"			15469841	Standard	NM_178565		Approved	MGC35555	uc003yms.3	Q6UXX9	OTTHUMG00000164893	ENST00000276659.5:c.127T>C	8.37:g.109001440A>G	ENSP00000276659:p.Cys43Arg					RSPO2_ENST00000378439.2_Intron|RSPO2_ENST00000517781.1_Intron|RSPO2_ENST00000517939.1_5'UTR	p.C43R	NM_178565.4	NP_848660.3	Q6UXX9	RSPO2_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;1.55e-09)		3	747	-			43					B3KVP0|Q4G0U4|Q8N6X6	Missense_Mutation	SNP	ENST00000276659.5	37	c.127T>C	CCDS6307.1	.	.	.	.	.	.	.	.	.	.	A	20.6	4.018139	0.75275	.	.	ENSG00000147655	ENST00000276659;ENST00000521956;ENST00000520026;ENST00000522333	D;D;D;D	0.99797	-6.79;-2.02;-6.79;-2.02	4.93	4.93	0.64822	Growth factor, receptor (1);	0.000000	0.85682	D	0.000000	D	0.99840	0.9927	H	0.95294	3.65	0.80722	D	1	D	0.69078	0.997	D	0.80764	0.994	D	0.96599	0.9443	10	0.87932	D	0	-7.4699	14.8819	0.70540	1.0:0.0:0.0:0.0	.	43	Q6UXX9	RSPO2_HUMAN	R	43;43;15;43	ENSP00000276659:C43R;ENSP00000430010:C43R;ENSP00000429159:C15R;ENSP00000430973:C43R	ENSP00000276659:C43R	C	-	1	0	RSPO2	109070616	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	8.757000	0.91657	1.984000	0.57885	0.460000	0.39030	TGT		0.383	RSPO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380830.1	NM_178565		15	31	0	0	0	1	0	15	31					G	109001440	A	G	109001440	3	3	435	1	0	0	0	0	1	0	0	0	13710	130	5	4	620	4	RSPO2	8	109001440	Missense_Mutation	SNP	A	TCGA-XK-AAIW-01A-11D-A41K-08	30998	109001440	37362582	4106	25031											
PKHD1L1	93035	broad.mit.edu	37	chr8	110456103	110456103	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	aataacaattattggacatgGctttagtaatctcccatggg	13	13	8	7	0	1	0	0	0	1	0	2	1	1	1	1	3	1	2	1	3	6	6			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:110456103G>A	ENST00000378402.5	+	37	4867	c.4763G>A	c.(4762-4764)gGc>gAc	p.G1588D		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	1588	IPT/TIG 8.				immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			ATTGGACATGGCTTTAGTAAT	0.328										HNSCC(38;0.096)																												ENST00000378402.5																			0				NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263						c.(4762-4764)gGc>gAc		polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1							100	96	97					8																	110456103		1820	4078	5898	SO:0001583	missense	93035				immune response	cytosol|extracellular space|integral to membrane	receptor activity	g.chr8:110456103G>A	AY219181	CCDS47911.1	8q23	2003-03-28			ENSG00000205038	ENSG00000205038			20313	protein-coding gene	gene with protein product		607843				12620974	Standard	NM_177531		Approved		uc003yne.3	Q86WI1	OTTHUMG00000164934	ENST00000378402.5:c.4763G>A	8.37:g.110456103G>A	ENSP00000367655:p.Gly1588Asp	HNSCC(38;0.096)					p.G1588D	NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)		37	4867	+			1588			IPT/TIG 8.		Q567P2|Q9UF27	Missense_Mutation	SNP	ENST00000378402.5	37	c.4763G>A	CCDS47911.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.192672	0.78902	.	.	ENSG00000205038	ENST00000378402	T	0.78816	-1.21	5.77	5.77	0.91146	Cell surface receptor IPT/TIG (2);Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.131077	0.49916	D	0.000130	D	0.88198	0.6372	M	0.77103	2.36	0.29701	N	0.840194	D	0.67145	0.996	D	0.74674	0.984	D	0.84850	0.0813	10	0.59425	D	0.04	.	17.8364	0.88699	0.0:0.0:1.0:0.0	.	1588	Q86WI1	PKHL1_HUMAN	D	1588	ENSP00000367655:G1588D	ENSP00000367655:G1588D	G	+	2	0	PKHD1L1	110525279	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.441000	0.52893	2.884000	0.98904	0.655000	0.94253	GGC		0.328	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381017.1	NM_177531		29	36	0	0	0	1	0	29	36					A	110456103	G	A	110456103	3	1	435	1	0	0	0	0	1	0	0	0	11972	1203	42	3	4909	3	PKHD1L1	8	110456103	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	1454663	110456103	35907919	4107	25032											
PKHD1L1	93035	broad.mit.edu	37	chr8	110509271	110509271	+	Missense_Mutation	SNP	G	G	A																															aggatttaccatttggacatGctgggattatggaatttatt																										TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:110509271G>A	ENST00000378402.5	+	64	10555	c.10451G>A	c.(10450-10452)tGc>tAc	p.C3484Y		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	3484					immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			ATTTGGACATGCTGGGATTAT	0.338										HNSCC(38;0.096)																												ENST00000378402.5																			0				NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263						c.(10450-10452)tGc>tAc		polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1							130	123	126					8																	110509271		1831	4087	5918	SO:0001583	missense	93035				immune response	cytosol|extracellular space|integral to membrane	receptor activity	g.chr8:110509271G>A	AY219181	CCDS47911.1	8q23	2003-03-28			ENSG00000205038	ENSG00000205038			20313	protein-coding gene	gene with protein product		607843				12620974	Standard	NM_177531		Approved		uc003yne.3	Q86WI1	OTTHUMG00000164934	ENST00000378402.5:c.10451G>A	8.37:g.110509271G>A	ENSP00000367655:p.Cys3484Tyr	HNSCC(38;0.096)					p.C3484Y	NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)		64	10555	+			3484					Q567P2|Q9UF27	Missense_Mutation	SNP	ENST00000378402.5	37	c.10451G>A	CCDS47911.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.303999	0.81136	.	.	ENSG00000205038	ENST00000378402;ENST00000526472	T;T	0.80304	-1.36;-1.34	5.8	5.8	0.92144	Pectin lyase fold/virulence factor (1);	0.054481	0.64402	D	0.000001	D	0.85274	0.5659	M	0.62723	1.935	0.37745	D	0.925759	P	0.39003	0.654	P	0.48982	0.597	D	0.86975	0.2100	10	0.59425	D	0.04	.	17.5448	0.87858	0.0:0.0:1.0:0.0	.	3484	Q86WI1	PKHL1_HUMAN	Y	3484;412	ENSP00000367655:C3484Y;ENSP00000437376:C412Y	ENSP00000367655:C3484Y	C	+	2	0	PKHD1L1	110578447	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.855000	0.69510	2.740000	0.93945	0.650000	0.86243	TGC		0.338	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381017.1	NM_177531		36	21	0	0	0	1	0	36	21					A	110509271	G	A	110509271	3	1	435	1	0	0	0	0	1	0	0	0	11972	1319	46	3	10705	3	PKHD1L1	8	110509271	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	53168	110509271	35854751	4108	25033	118	2									
PKHD1L1	93035	broad.mit.edu	37	chr8	110509272	110509272	+	Silent	SNP	C	C	T																															ggatttaccatttggacatgCtgggattatggaatttattt																										TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:110509272C>T	ENST00000378402.5	+	64	10556	c.10452C>T	c.(10450-10452)tgC>tgT	p.C3484C		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	3484					immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			TTTGGACATGCTGGGATTATG	0.338										HNSCC(38;0.096)																												ENST00000378402.5																			0				NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263						c.(10450-10452)tgC>tgT		polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1							130	123	125					8																	110509272		1830	4087	5917	SO:0001819	synonymous_variant	93035				immune response	cytosol|extracellular space|integral to membrane	receptor activity	g.chr8:110509272C>T	AY219181	CCDS47911.1	8q23	2003-03-28			ENSG00000205038	ENSG00000205038			20313	protein-coding gene	gene with protein product		607843				12620974	Standard	NM_177531		Approved		uc003yne.3	Q86WI1	OTTHUMG00000164934	ENST00000378402.5:c.10452C>T	8.37:g.110509272C>T		HNSCC(38;0.096)					p.C3484C	NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)		64	10556	+			3484					Q567P2|Q9UF27	Silent	SNP	ENST00000378402.5	37	c.10452C>T	CCDS47911.1																																																																																				0.338	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381017.1	NM_177531		14	45	0	0	0	1	0	14	45					T	110509272	C	T	110509272	2	4	435	1	0	0	0	0	0	0	0	1	11972	805	28	3		3	PKHD1L1	8	110509272	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	1	110509272	35854750	4109	25034	118	2									
PKHD1L1	93035	broad.mit.edu	37	chr8	110510781	110510781	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttgaactcactgctgctcatCggagtcctagatctccatca	9	12	7	13	1	4	2	3	1	1	1	7	3	5	3	2	1	3	2	2	1	2	2	rs370152942	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:110510781C>T	ENST00000378402.5	+	66	10794	c.10690C>T	c.(10690-10692)Cgg>Tgg	p.R3564W		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	3564					immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			TGCTGCTCATCGGAGTCCTAG	0.343										HNSCC(38;0.096)			C|||	5	0.000998403	0	0	5008	,	,		18066	0.005		0	False		,,,				2504	0					ENST00000378402.5																			0				NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263						c.(10690-10692)Cgg>Tgg		polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1		C	TRP/ARG	0,3690		0,0,1845	131	121	124		10690	2.7	1	8		124	2,8204		0,2,4101	no	missense	PKHD1L1	NM_177531.4	101	0,2,5946	TT,TC,CC		0.0244,0.0,0.0168	probably-damaging	3564/4244	110510781	2,11894	1845	4103	5948	SO:0001583	missense	93035				immune response	cytosol|extracellular space|integral to membrane	receptor activity	g.chr8:110510781C>T	AY219181	CCDS47911.1	8q23	2003-03-28			ENSG00000205038	ENSG00000205038			20313	protein-coding gene	gene with protein product		607843				12620974	Standard	NM_177531		Approved		uc003yne.3	Q86WI1	OTTHUMG00000164934	ENST00000378402.5:c.10690C>T	8.37:g.110510781C>T	ENSP00000367655:p.Arg3564Trp	HNSCC(38;0.096)					p.R3564W	NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)		66	10794	+			3564					Q567P2|Q9UF27	Missense_Mutation	SNP	ENST00000378402.5	37	c.10690C>T	CCDS47911.1	.	.	.	.	.	.	.	.	.	.	C	19.24	3.790328	0.70337	0.0	2.44E-4	ENSG00000205038	ENST00000378402;ENST00000526472	D;D	0.88124	-2.34;-2.11	5.89	2.7	0.31948	.	0.071230	0.56097	D	0.000033	D	0.88362	0.6416	M	0.79926	2.475	0.26458	N	0.975499	D	0.58620	0.983	P	0.47162	0.54	T	0.82470	-0.0441	10	0.87932	D	0	.	11.4141	0.49941	0.5607:0.4393:0.0:0.0	.	3564	Q86WI1	PKHL1_HUMAN	W	3564;492	ENSP00000367655:R3564W;ENSP00000437376:R492W	ENSP00000367655:R3564W	R	+	1	2	PKHD1L1	110579957	0.997000	0.39634	1.000000	0.80357	0.985000	0.73830	0.932000	0.28884	0.655000	0.30866	0.655000	0.94253	CGG		0.343	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381017.1	NM_177531		16	20	0	0	0	1	0	16	20					T	110510781	C	T	110510781	3	4	435	1	0	0	0	0	1	0	0	0	11972	875	31	2	10952	2	PKHD1L1	8	110510781	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	1509	110510781	35853241	4110	25035											
CSMD3	114788	broad.mit.edu	37	chr8	113323358	113323358	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgtctgactgataatataTccatgaggtggggattctgg	9	13	12	7	0	2	3	0	3	2	0	3	4	3	4	2	4	0	0	2	4	3	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:113323358T>A	ENST00000297405.5	-	50	7978	c.7734A>T	c.(7732-7734)ggA>ggT	p.G2578G	CSMD3_ENST00000455883.2_Silent_p.G2474G|CSMD3_ENST00000343508.3_Silent_p.G2538G|CSMD3_ENST00000352409.3_Silent_p.G2508G	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2578	Sushi 14. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TGATAATATATCCATGAGGTG	0.408										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												ENST00000297405.5																			0				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						c.(7732-7734)ggA>ggT		CUB and Sushi multiple domains 3							109	96	101					8																	113323358		2203	4300	6503	SO:0001819	synonymous_variant	114788					integral to membrane|plasma membrane		g.chr8:113323358T>A	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.7734A>T	8.37:g.113323358T>A		HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_ENST00000343508.3_Silent_p.G2538G|CSMD3_ENST00000352409.3_Silent_p.G2508G|CSMD3_ENST00000455883.2_Silent_p.G2474G	p.G2578G	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN			50	7978	-			2578			Sushi 14.		Q96PZ3	Silent	SNP	ENST00000297405.5	37	c.7734A>T	CCDS6315.1																																																																																				0.408	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		39	32	0	0	0	1	0	39	32					A	113323358	T	A	113323358	2	1	435	1	0	0	0	0	0	0	0	1	3946	1422	50	5		5	CSMD3	8	113323358	Silent	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	2812577	113323358	33040664	4111	25036											
CSMD3	114788	broad.mit.edu	37	chr8	113519034	113519034	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aaagaataaagcctgaagatCctgttaaattgcctccacag	16	9	7	9	0	0	3	0	1	0	2	2	3	2	3	4	0	2	1	4	0	7	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:113519034C>A	ENST00000297405.5	-	29	5025	c.4781G>T	c.(4780-4782)gGa>gTa	p.G1594V	CSMD3_ENST00000455883.2_Missense_Mutation_p.G1490V|CSMD3_ENST00000343508.3_Missense_Mutation_p.G1554V|CSMD3_ENST00000352409.3_Missense_Mutation_p.G1594V	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1594	CUB 9. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						GCCTGAAGATCCTGTTAAATT	0.348										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												ENST00000297405.5																			0				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						c.(4780-4782)gGa>gTa		CUB and Sushi multiple domains 3							98	93	95					8																	113519034		2203	4300	6503	SO:0001583	missense	114788					integral to membrane|plasma membrane		g.chr8:113519034C>A	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.4781G>T	8.37:g.113519034C>A	ENSP00000297405:p.Gly1594Val	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_ENST00000343508.3_Missense_Mutation_p.G1554V|CSMD3_ENST00000352409.3_Missense_Mutation_p.G1594V|CSMD3_ENST00000455883.2_Missense_Mutation_p.G1490V	p.G1594V	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN			29	5025	-			1594			CUB 9.		Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	c.4781G>T	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.067751	0.76301	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.18016	2.24;2.24;2.24;2.24;2.24	4.99	4.99	0.66335	CUB (5);	0.073455	0.53938	D	0.000052	T	0.43166	0.1235	M	0.75777	2.31	0.80722	D	1	D;D;D	0.76494	0.986;0.98;0.999	D;P;D	0.74023	0.913;0.862;0.982	T	0.19976	-1.0289	10	0.39692	T	0.17	.	18.4644	0.90750	0.0:1.0:0.0:0.0	.	1490;1594;1554	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	V	1554;1594;934;1490;1594	ENSP00000345799:G1554V;ENSP00000297405:G1594V;ENSP00000341558:G934V;ENSP00000412263:G1490V;ENSP00000343124:G1594V	ENSP00000297405:G1594V	G	-	2	0	CSMD3	113588210	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.922000	0.70036	2.587000	0.87381	0.557000	0.71058	GGA		0.348	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		7	18	1	0	0.0293803	1	0.0295506	7	18					A	113519034	C	A	113519034	3	1	435	1	0	0	0	0	1	0	0	0	3946	855	30	5	6514	5	CSMD3	8	113519034	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	195676	113519034	32844988	4112	25037											
CSMD3	114788	broad.mit.edu	37	chr8	113529318	113529318	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgattttctacctgaatgcaGgttattctttcctctccttg	6	18	6	11	1	3	1	0	1	3	0	5	2	4	1	3	1	2	2	3	1	3	7	rs373293740		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:113529318G>A	ENST00000297405.5	-	28	4945	c.4701C>T	c.(4699-4701)acC>acT	p.T1567T	CSMD3_ENST00000455883.2_Silent_p.T1463T|CSMD3_ENST00000343508.3_Silent_p.T1527T|CSMD3_ENST00000352409.3_Silent_p.T1567T	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1567	Sushi 8. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						CCTGAATGCAGGTTATTCTTT	0.398										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												ENST00000297405.5																			0				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						c.(4699-4701)acC>acT		CUB and Sushi multiple domains 3		G	,,	0,4406		0,0,2203	139	130	133		4389,4701,4581	-0.2	1	8		133	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous	CSMD3	NM_052900.2,NM_198123.1,NM_198124.1	,,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,,	1463/3539,1567/3708,1527/3668	113529318	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	114788					integral to membrane|plasma membrane		g.chr8:113529318G>A	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.4701C>T	8.37:g.113529318G>A		HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_ENST00000343508.3_Silent_p.T1527T|CSMD3_ENST00000352409.3_Silent_p.T1567T|CSMD3_ENST00000455883.2_Silent_p.T1463T	p.T1567T	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN			28	4945	-			1567			Sushi 8.		Q96PZ3	Silent	SNP	ENST00000297405.5	37	c.4701C>T	CCDS6315.1																																																																																				0.398	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		33	43	0	0	0	1	0	33	43					A	113529318	G	A	113529318	2	1	435	1	0	0	0	0	0	0	0	1	3946	987	35	3		3	CSMD3	8	113529318	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	10284	113529318	32834704	4113	25038											
TRPS1	7227	broad.mit.edu	37	chr8	116599520	116599520	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cccctctccaagtcacattgCgaaggtcatcactggaactc	10	9	7	15	1	4	0	3	0	1	0	6	2	4	1	3	2	2	0	3	2	3	1	rs575384609		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:116599520C>T	ENST00000220888.5	-	4	2528	c.2369G>A	c.(2368-2370)cGc>cAc	p.R790H	TRPS1_ENST00000520276.1_Missense_Mutation_p.R794H|TRPS1_ENST00000519076.1_Missense_Mutation_p.R544H|TRPS1_ENST00000519674.1_Missense_Mutation_p.R790H|TRPS1_ENST00000395715.3_Missense_Mutation_p.R803H			Q9UHF7	TRPS1_HUMAN	trichorhinophalangeal syndrome I	790	Mediates interaction with GLI3.				chondrocyte differentiation (GO:0002062)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|NLS-bearing protein import into nucleus (GO:0006607)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|regulation of chondrocyte differentiation (GO:0032330)|regulation of histone deacetylation (GO:0031063)|skeletal system development (GO:0001501)|transcription from RNA polymerase II promoter (GO:0006366)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	111	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)			AGTCACATTGCGAAGGTCATC	0.567									Langer-Giedion syndrome																													ENST00000395715.3																			0				autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	111						c.(2407-2409)cGc>cAc		trichorhinophalangeal syndrome I							256	264	262					8																	116599520		1980	4144	6124	SO:0001583	missense	7227	Langer-Giedion syndrome	Familial Cancer Database	Trichorhinophalangeal syndrome type 2, TRPS II	negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:116599520C>T	AF183810	CCDS6318.2, CCDS64957.1	8q23.3	2014-06-23			ENSG00000104447	ENSG00000104447		"GATA zinc finger domain containing", "Zinc fingers, C2H2-type"	12340	protein-coding gene	gene with protein product		604386				8530105, 10615131, 10647898	Standard	NM_001282903		Approved	LGCR	uc003yny.3	Q9UHF7	OTTHUMG00000142829	ENST00000220888.5:c.2369G>A	8.37:g.116599520C>T	ENSP00000220888:p.Arg790His					TRPS1_ENST00000220888.5_Missense_Mutation_p.R790H|TRPS1_ENST00000519674.1_Missense_Mutation_p.R790H|TRPS1_ENST00000520276.1_Missense_Mutation_p.R794H|TRPS1_ENST00000519076.1_Missense_Mutation_p.R544H	p.R803H	NM_014112.2	NP_054831.2	Q9UHF7	TRPS1_HUMAN	Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)		5	2985	-	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		790			Mediates interaction with GLI3.		B4E1Z5|Q08AU2|Q9NWE1|Q9UHH6	Missense_Mutation	SNP	ENST00000220888.5	37	c.2408G>A		.	.	.	.	.	.	.	.	.	.	C	19.13	3.768267	0.69878	.	.	ENSG00000104447	ENST00000395715;ENST00000220888;ENST00000519076;ENST00000520276;ENST00000519674	D;D;D;D;T	0.98732	-5.1;-5.07;-5.03;-5.07;0.62	5.76	5.76	0.90799	.	0.117655	0.56097	D	0.000025	D	0.98305	0.9438	L	0.29908	0.895	0.48087	D	0.999588	D;D;D	0.76494	0.999;0.998;0.999	D;P;D	0.62955	0.909;0.813;0.909	D	0.99900	1.1160	10	0.87932	D	0	.	19.9813	0.97326	0.0:1.0:0.0:0.0	.	794;790;803	Q9UHF7-3;Q9UHF7;Q9UHF7-2	.;TRPS1_HUMAN;.	H	803;790;544;794;790	ENSP00000379065:R803H;ENSP00000220888:R790H;ENSP00000428910:R544H;ENSP00000428680:R794H;ENSP00000429174:R790H	ENSP00000220888:R790H	R	-	2	0	TRPS1	116668695	1.000000	0.71417	0.951000	0.38953	0.329000	0.28539	6.223000	0.72257	2.726000	0.93360	0.655000	0.94253	CGC		0.567	TRPS1-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000286436.3	NM_014112		30	159	0	0	0	1	0	30	159					T	116599520	C	T	116599520	3	4	435	1	0	0	0	0	1	0	0	0	16590	768	27	1	1488	1	TRPS1	8	116599520	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	3070202	116599520	29764502	4114	25039											
TRPS1	7227	broad.mit.edu	37	chr8	116616449	116616449	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cttttctgggctgcaaagtcCtctgggacagaatggacagt	9	11	12	9	0	2	1	0	0	2	1	3	3	3	3	1	3	1	2	1	3	2	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:116616449C>T	ENST00000220888.5	-	3	1867	c.1708G>A	c.(1708-1710)Gga>Aga	p.G570R	TRPS1_ENST00000520276.1_Missense_Mutation_p.G574R|TRPS1_ENST00000519076.1_Intron|TRPS1_ENST00000519674.1_Missense_Mutation_p.G570R|TRPS1_ENST00000395715.3_Missense_Mutation_p.G583R			Q9UHF7	TRPS1_HUMAN	trichorhinophalangeal syndrome I	570					chondrocyte differentiation (GO:0002062)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|NLS-bearing protein import into nucleus (GO:0006607)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|regulation of chondrocyte differentiation (GO:0032330)|regulation of histone deacetylation (GO:0031063)|skeletal system development (GO:0001501)|transcription from RNA polymerase II promoter (GO:0006366)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	111	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)			CTGCAAAGTCCTCTGGGACAG	0.443									Langer-Giedion syndrome																													ENST00000395715.3																			0				autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	111						c.(1747-1749)Gga>Aga		trichorhinophalangeal syndrome I							70	70	70					8																	116616449		1899	4115	6014	SO:0001583	missense	7227	Langer-Giedion syndrome	Familial Cancer Database	Trichorhinophalangeal syndrome type 2, TRPS II	negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:116616449C>T	AF183810	CCDS6318.2, CCDS64957.1	8q23.3	2014-06-23			ENSG00000104447	ENSG00000104447		"GATA zinc finger domain containing", "Zinc fingers, C2H2-type"	12340	protein-coding gene	gene with protein product		604386				8530105, 10615131, 10647898	Standard	NM_001282903		Approved	LGCR	uc003yny.3	Q9UHF7	OTTHUMG00000142829	ENST00000220888.5:c.1708G>A	8.37:g.116616449C>T	ENSP00000220888:p.Gly570Arg					TRPS1_ENST00000220888.5_Missense_Mutation_p.G570R|TRPS1_ENST00000519674.1_Missense_Mutation_p.G570R|TRPS1_ENST00000520276.1_Missense_Mutation_p.G574R|TRPS1_ENST00000519076.1_Intron	p.G583R	NM_014112.2	NP_054831.2	Q9UHF7	TRPS1_HUMAN	Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)		4	2324	-	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		570					B4E1Z5|Q08AU2|Q9NWE1|Q9UHH6	Missense_Mutation	SNP	ENST00000220888.5	37	c.1747G>A		.	.	.	.	.	.	.	.	.	.	C	18.59	3.656409	0.67586	.	.	ENSG00000104447	ENST00000395715;ENST00000220888;ENST00000520276;ENST00000519674	T;T;T;T	0.54675	0.56;0.56;0.56;0.56	5.87	4.98	0.66077	.	0.157866	0.56097	D	0.000027	T	0.61874	0.2382	L	0.27053	0.805	0.54753	D	0.999984	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.75020	0.985;0.966;0.985	T	0.67665	-0.5612	10	0.87932	D	0	.	17.2772	0.87119	0.0:0.8745:0.1255:0.0	.	574;570;583	Q9UHF7-3;Q9UHF7;Q9UHF7-2	.;TRPS1_HUMAN;.	R	583;570;574;570	ENSP00000379065:G583R;ENSP00000220888:G570R;ENSP00000428680:G574R;ENSP00000429174:G570R	ENSP00000220888:G570R	G	-	1	0	TRPS1	116685624	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.419000	0.80179	1.586000	0.49944	0.655000	0.94253	GGA		0.443	TRPS1-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000286436.3	NM_014112		7	28	0	0	0	1	0	7	28					T	116616449	C	T	116616449	3	4	435	1	0	0	0	0	1	0	0	0	16590	690	24	3	2153	3	TRPS1	8	116616449	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	16929	116616449	29747573	4115	25040											
TRPS1	7227	broad.mit.edu	37	chr8	116631818	116631818	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctctgtagcctttggtgaCatcttctgatcttcctttgt	4	19	7	11	0	4	2	0	2	4	0	6	2	6	2	3	1	1	1	3	1	1	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:116631818C>T	ENST00000220888.5	-	2	627	c.468G>A	c.(466-468)atG>atA	p.M156I	TRPS1_ENST00000520276.1_Missense_Mutation_p.M160I|TRPS1_ENST00000519076.1_Missense_Mutation_p.M110I|TRPS1_ENST00000519674.1_Missense_Mutation_p.M156I|TRPS1_ENST00000395715.3_Missense_Mutation_p.M169I			Q9UHF7	TRPS1_HUMAN	trichorhinophalangeal syndrome I	156					chondrocyte differentiation (GO:0002062)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|NLS-bearing protein import into nucleus (GO:0006607)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|regulation of chondrocyte differentiation (GO:0032330)|regulation of histone deacetylation (GO:0031063)|skeletal system development (GO:0001501)|transcription from RNA polymerase II promoter (GO:0006366)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	111	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)			CCTTTGGTGACATCTTCTGAT	0.522									Langer-Giedion syndrome																													ENST00000395715.3																			0				autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	111						c.(505-507)atG>atA		trichorhinophalangeal syndrome I							103	101	102					8																	116631818		1962	4163	6125	SO:0001583	missense	7227	Langer-Giedion syndrome	Familial Cancer Database	Trichorhinophalangeal syndrome type 2, TRPS II	negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:116631818C>T	AF183810	CCDS6318.2, CCDS64957.1	8q23.3	2014-06-23			ENSG00000104447	ENSG00000104447		"GATA zinc finger domain containing", "Zinc fingers, C2H2-type"	12340	protein-coding gene	gene with protein product		604386				8530105, 10615131, 10647898	Standard	NM_001282903		Approved	LGCR	uc003yny.3	Q9UHF7	OTTHUMG00000142829	ENST00000220888.5:c.468G>A	8.37:g.116631818C>T	ENSP00000220888:p.Met156Ile					TRPS1_ENST00000220888.5_Missense_Mutation_p.M156I|TRPS1_ENST00000519674.1_Missense_Mutation_p.M156I|TRPS1_ENST00000520276.1_Missense_Mutation_p.M160I|TRPS1_ENST00000519076.1_Missense_Mutation_p.M110I	p.M169I	NM_014112.2	NP_054831.2	Q9UHF7	TRPS1_HUMAN	Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)		3	1084	-	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		156					B4E1Z5|Q08AU2|Q9NWE1|Q9UHH6	Missense_Mutation	SNP	ENST00000220888.5	37	c.507G>A		.	.	.	.	.	.	.	.	.	.	C	13.41	2.230106	0.39399	.	.	ENSG00000104447	ENST00000395715;ENST00000220888;ENST00000519076;ENST00000520276;ENST00000519674	D;D;D;D;T	0.98550	-4.99;-4.97;-4.97;-4.97;0.83	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	D	0.95862	0.8653	N	0.24115	0.695	0.36327	D	0.858614	B;B;B	0.18166	0.026;0.015;0.026	B;B;B	0.14023	0.01;0.004;0.01	D	0.93579	0.6911	10	0.66056	D	0.02	6.4508	19.8893	0.96923	0.0:1.0:0.0:0.0	.	160;156;169	Q9UHF7-3;Q9UHF7;Q9UHF7-2	.;TRPS1_HUMAN;.	I	169;156;110;160;156	ENSP00000379065:M169I;ENSP00000220888:M156I;ENSP00000428910:M110I;ENSP00000428680:M160I;ENSP00000429174:M156I	ENSP00000220888:M156I	M	-	3	0	TRPS1	116700993	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	3.331000	0.52075	2.704000	0.92352	0.585000	0.79938	ATG		0.522	TRPS1-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000286436.3	NM_014112		25	60	0	0	0	1	0	25	60					T	116631818	C	T	116631818	3	4	435	1	0	0	0	0	1	0	0	0	16590	478	17	3	3397	3	TRPS1	8	116631818	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	15369	116631818	29732204	4116	25041											
MAL2	114569	broad.mit.edu	37	chr8	120233895	120233895	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ctacctctactacaaggatgGgtcatgtttgtgtccgtgac	8	13	10	10	1	2	1	1	1	1	0	3	2	3	2	2	2	3	1	2	2	4	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:120233895G>A	ENST00000276681.6	+	3	303	c.201G>A	c.(199-201)tgG>tgA	p.W67*	RP11-4K16.2_ENST00000522828.1_lincRNA|MAL2_ENST00000521748.1_3'UTR	NM_052886.2	NP_443118.1	Q969L2	MAL2_HUMAN	mal, T-cell differentiation protein 2 (gene/pseudogene)	67	MARVEL. {ECO:0000255|PROSITE- ProRule:PRU00581}.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)						all_cancers(13;1.91e-26)|Lung NSC(37;8.61e-08)|Ovarian(258;0.018)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.000967)			TACAAGGATGGGTCATGTTTG	0.473																																						ENST00000276681.6																			0											c.(199-201)tgG>tgA		mal, T-cell differentiation protein 2 (gene/pseudogene)							265	264	264					8																	120233895		1984	4159	6143	SO:0001587	stop_gained	114569					apical plasma membrane|endomembrane system|integral to membrane|perinuclear region of cytoplasm	protein binding	g.chr8:120233895G>A	AL117612	CCDS75780.1	8q23	2011-01-26	2011-01-26			ENSG00000147676			13634	protein-coding gene	gene with protein product	"MAL proteolipid protein 2"	609684				11549320	Standard	NM_052886		Approved		uc003yop.3	Q969L2		ENST00000276681.6:c.201G>A	8.37:g.120233895G>A	ENSP00000475434:p.Trp67*					MAL2_ENST00000521748.1_3'UTR|RP11-4K16.2_ENST00000522828.1_lincRNA	p.W67*	NM_052886.2	NP_443118.1	Q969L2	MAL2_HUMAN	STAD - Stomach adenocarcinoma(47;0.000967)		3	303	+	all_cancers(13;1.91e-26)|Lung NSC(37;8.61e-08)|Ovarian(258;0.018)|Hepatocellular(40;0.161)		67			MARVEL.		B2R520|Q6ZMD9	Nonsense_Mutation	SNP	ENST00000276681.6	37	c.201G>A																																																																																					0.473	MAL2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_052886		28	133	0	0	0	1	0	28	133					A	120233895	G	A	120233895	4	1	435	1	0	0	0	0	0	1	0	0	9200	1241	43	3	208	3	MAL2	8	120233895	Nonsense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	3602077	120233895	26130127	4117	25042											
ENPP2	5168	broad.mit.edu	37	chr8	120598437	120598437	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	accagttaccttgcaacatgCcatctgcgttccaccaataa	12	10	5	14	1	1	0	0	0	1	0	2	0	2	0	5	0	5	3	5	0	4	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:120598437C>T	ENST00000075322.6	-	15	1414	c.1356G>A	c.(1354-1356)tgG>tgA	p.W452*	ENPP2_ENST00000522167.1_Nonsense_Mutation_p.W91*|ENPP2_ENST00000259486.6_Nonsense_Mutation_p.W504*|ENPP2_ENST00000522826.1_Nonsense_Mutation_p.W452*|ENPP2_ENST00000427067.2_Nonsense_Mutation_p.W448*	NM_001040092.2	NP_001035181.1	Q13822	ENPP2_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 2	452					cellular component movement (GO:0006928)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylcholine catabolic process (GO:0034638)|phospholipid catabolic process (GO:0009395)|regulation of cell migration (GO:0030334)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	alkylglycerophosphoethanolamine phosphodiesterase activity (GO:0047391)|calcium ion binding (GO:0005509)|hydrolase activity (GO:0016787)|lysophospholipase activity (GO:0004622)|nucleic acid binding (GO:0003676)|nucleotide diphosphatase activity (GO:0004551)|phosphodiesterase I activity (GO:0004528)|polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(30)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)	69	Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			TTGCAACATGCCATCTGCGTT	0.413																																					Melanoma(20;305 879 2501 4818 31020)	ENST00000427067.2																			0				breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(30)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)	69						c.(1342-1344)tgG>tgA		ectonucleotide pyrophosphatase/phosphodiesterase 2							184	162	170					8																	120598437		2203	4300	6503	SO:0001587	stop_gained	0				cellular component movement|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|phosphate metabolic process|phosphatidylcholine catabolic process|regulation of cell migration	extracellular space|integral to plasma membrane	alkylglycerophosphoethanolamine phosphodiesterase activity|calcium ion binding|lysophospholipase activity|nucleic acid binding|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity|transcription factor binding|zinc ion binding	g.chr8:120598437C>T	D45421	CCDS6329.1, CCDS34936.1, CCDS47914.1	8q24.12	2014-04-09	2008-08-01		ENSG00000136960	ENSG00000136960	3.1.4.1, 3.6.1.9		3357	protein-coding gene	gene with protein product	"autotaxin"	601060		PDNP2		8586446	Standard	NM_001040092		Approved	ATX, PD-IALPHA	uc003yos.2	Q13822	OTTHUMG00000164995	ENST00000075322.6:c.1356G>A	8.37:g.120598437C>T	ENSP00000075322:p.Trp452*					ENPP2_ENST00000522167.1_Nonsense_Mutation_p.W91*|ENPP2_ENST00000259486.6_Nonsense_Mutation_p.W504*|ENPP2_ENST00000522826.1_Nonsense_Mutation_p.W452*|ENPP2_ENST00000075322.6_Nonsense_Mutation_p.W452*	p.W448*			Q13822	ENPP2_HUMAN	STAD - Stomach adenocarcinoma(47;0.00185)		15	1524	-	Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		452					A8UHA1|E9PHP7|Q13827|Q14555|Q15117|Q9UCQ8|Q9UCR0|Q9UCR1|Q9UCR2|Q9UCR3|Q9UCR4	Nonsense_Mutation	SNP	ENST00000075322.6	37	c.1344G>A	CCDS34936.1	.	.	.	.	.	.	.	.	.	.	C	38	6.644631	0.97730	.	.	ENSG00000136960	ENST00000259486;ENST00000427067;ENST00000522167;ENST00000522826;ENST00000075322	.	.	.	5.64	5.64	0.86602	.	0.122950	0.64402	D	0.000006	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-5.9117	19.6837	0.95973	0.0:1.0:0.0:0.0	.	.	.	.	X	504;448;91;452;452	.	ENSP00000075322:W452X	W	-	3	0	ENPP2	120667618	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	7.782000	0.85680	2.660000	0.90430	0.555000	0.69702	TGG		0.413	ENPP2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000381390.1			29	64	0	0	0	1	0	29	64					T	120598437	C	T	120598437	4	4	435	1	0	0	0	0	0	1	0	0	5130	740	26	3	1358	3	ENPP2	8	120598437	Nonsense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	364542	120598437	25765585	4118	25043											
ENPP2	5168	broad.mit.edu	37	chr8	120631537	120631537	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cagtcatcatcaacccaatgCgactctcctataaggaaaaa	16	8	5	12	1	4	0	3	0	1	0	5	2	4	1	2	1	2	0	2	1	6	2	rs200364301		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:120631537C>T	ENST00000075322.6	-	5	484	c.426G>A	c.(424-426)tcG>tcA	p.S142S	ENPP2_ENST00000259486.6_Silent_p.S142S|ENPP2_ENST00000522826.1_Silent_p.S142S|ENPP2_ENST00000427067.2_Silent_p.S138S	NM_001040092.2	NP_001035181.1	Q13822	ENPP2_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 2	142	SMB 2. {ECO:0000255|PROSITE- ProRule:PRU00350}.				cellular component movement (GO:0006928)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylcholine catabolic process (GO:0034638)|phospholipid catabolic process (GO:0009395)|regulation of cell migration (GO:0030334)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	alkylglycerophosphoethanolamine phosphodiesterase activity (GO:0047391)|calcium ion binding (GO:0005509)|hydrolase activity (GO:0016787)|lysophospholipase activity (GO:0004622)|nucleic acid binding (GO:0003676)|nucleotide diphosphatase activity (GO:0004551)|phosphodiesterase I activity (GO:0004528)|polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(30)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)	69	Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			CAACCCAATGCGACTCTCCTA	0.378																																					Melanoma(20;305 879 2501 4818 31020)	ENST00000427067.2																			0				breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(30)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)	69						c.(412-414)tcG>tcA		ectonucleotide pyrophosphatase/phosphodiesterase 2		C	,,	1,4405	2.1+/-5.4	0,1,2202	103	96	99		426,426,426	-11	0.4	8		99	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous	ENPP2	NM_001040092.1,NM_001130863.1,NM_006209.3	,,	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	,,	142/864,142/889,142/916	120631537	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	0				cellular component movement|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|phosphate metabolic process|phosphatidylcholine catabolic process|regulation of cell migration	extracellular space|integral to plasma membrane	alkylglycerophosphoethanolamine phosphodiesterase activity|calcium ion binding|lysophospholipase activity|nucleic acid binding|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity|transcription factor binding|zinc ion binding	g.chr8:120631537C>T	D45421	CCDS6329.1, CCDS34936.1, CCDS47914.1	8q24.12	2014-04-09	2008-08-01		ENSG00000136960	ENSG00000136960	3.1.4.1, 3.6.1.9		3357	protein-coding gene	gene with protein product	"autotaxin"	601060		PDNP2		8586446	Standard	NM_001040092		Approved	ATX, PD-IALPHA	uc003yos.2	Q13822	OTTHUMG00000164995	ENST00000075322.6:c.426G>A	8.37:g.120631537C>T						ENPP2_ENST00000259486.6_Silent_p.S142S|ENPP2_ENST00000522826.1_Silent_p.S142S|ENPP2_ENST00000075322.6_Silent_p.S142S	p.S138S			Q13822	ENPP2_HUMAN	STAD - Stomach adenocarcinoma(47;0.00185)		5	594	-	Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		142			SMB 2.		A8UHA1|E9PHP7|Q13827|Q14555|Q15117|Q9UCQ8|Q9UCR0|Q9UCR1|Q9UCR2|Q9UCR3|Q9UCR4	Silent	SNP	ENST00000075322.6	37	c.414G>A	CCDS34936.1																																																																																				0.378	ENPP2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000381390.1			25	48	0	0	0	1	0	25	48					T	120631537	C	T	120631537	2	4	435	1	0	0	0	0	0	0	0	1	5130	755	27	1		1	ENPP2	8	120631537	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	33100	120631537	25732485	4119	25044											
DEPDC6	64798	broad.mit.edu	37	chr8	121015349	121015349	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgctctgcaaccccaagtcCggtgagtgcccaaaaggtgg	9	7	13	12	1	1	1	0	1	1	0	2	1	2	1	4	3	4	2	4	3	4	0	rs145863430		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:121015349C>T	ENST00000286234.5	+	6	1054	c.924C>T	c.(922-924)tcC>tcT	p.S308S	DEPTOR_ENST00000518057.1_3'UTR|DEPTOR_ENST00000523492.1_Splice_Site_p.S207S	NM_022783.2	NP_073620.2	Q8TB45	DPTOR_HUMAN	DEP domain containing MTOR-interacting protein	308					intracellular signal transduction (GO:0035556)|negative regulation of cell size (GO:0045792)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of TOR signaling (GO:0032007)|regulation of extrinsic apoptotic signaling pathway (GO:2001236)	intracellular (GO:0005622)				endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)	18						ACCCCAAGTCCGGTGAGTGCC	0.617																																						ENST00000286234.5																			0				endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)	18						c.e6+1		DEP domain containing MTOR-interacting protein							37	33	35					8																	121015349		2203	4300	6503	SO:0001630	splice_region_variant	64798				intracellular signal transduction|negative regulation of cell size|negative regulation of protein kinase activity|negative regulation of TOR signaling cascade|regulation of apoptosis	intracellular	protein binding	g.chr8:121015349C>T		CCDS6331.1, CCDS64960.1	8q24.12	2011-12-13	2010-12-08	2010-12-08	ENSG00000155792	ENSG00000155792			22953	protein-coding gene	gene with protein product		612974	"DEP domain containing 6"	DEPDC6		19446321	Standard	NM_022783		Approved	DEP.6, FLJ12428	uc003yow.4	Q8TB45	OTTHUMG00000165052	ENST00000286234.5:c.925+1C>T	8.37:g.121015349C>T						DEPTOR_ENST00000518057.1_3'UTR|DEPTOR_ENST00000523492.1_Splice_Site_p.S207_splice	p.S308_splice	NM_022783.2	NP_073620.2	Q8TB45	DPTOR_HUMAN			6	1054	+			308					B2RCL9|B4DN97|E7EV87|Q96EQ1|Q9H0R7|Q9H894|Q9HA07	Splice_Site	SNP	ENST00000286234.5	37	c.925_splice	CCDS6331.1																																																																																				0.617	DEPTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381601.1	NM_022783	Silent	7	13	0	0	0	1	0	7	13					T	121015349	C	T	121015349	5	4	435	1	0	0	0	0	0	0	1	0	4443	666	23	2	946	2	DEPDC6	8	121015349	Splice_Site	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	383812	121015349	25348673	4120	25045											
COL14A1	7373	broad.mit.edu	37	chr8	121282370	121282370	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gatcatcagctttctatacaGcactgttggagccctgaaca	11	11	8	11	0	3	1	2	1	1	0	3	3	3	2	1	1	5	3	1	1	3	4	rs200771692		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:121282370G>T	ENST00000297848.3	+	26	3440	c.3170G>T	c.(3169-3171)aGc>aTc	p.S1057I	COL14A1_ENST00000309791.4_Missense_Mutation_p.S1057I|COL14A1_ENST00000247781.3_Missense_Mutation_p.S962I|COL14A1_ENST00000432943.2_3'UTR	NM_021110.1	NP_066933.1			collagen, type XIV, alpha 1											NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			TTTCTATACAGCACTGTTGGA	0.393																																						ENST00000297848.3																			0				NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119						c.(3169-3171)aGc>aTc		collagen, type XIV, alpha 1							96	91	93					8																	121282370		2203	4299	6502	SO:0001583	missense	7373				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging	g.chr8:121282370G>T		CCDS34938.1	8q23	2013-02-11	2008-02-04		ENSG00000187955	ENSG00000187955		"Collagens", "Fibronectin type III domain containing"	2191	protein-coding gene	gene with protein product		120324	"undulin"	UND		1716629, 9427527	Standard	NM_021110		Approved		uc003yox.4	Q05707	OTTHUMG00000149877	ENST00000297848.3:c.3170G>T	8.37:g.121282370G>T	ENSP00000297848:p.Ser1057Ile					COL14A1_ENST00000432943.2_3'UTR|COL14A1_ENST00000309791.4_Missense_Mutation_p.S1057I|COL14A1_ENST00000247781.3_Missense_Mutation_p.S962I	p.S1057I	NM_021110.1	NP_066933.1	Q05707	COEA1_HUMAN	OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)		26	3440	+	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		1057			VWFA 2.			Missense_Mutation	SNP	ENST00000297848.3	37	c.3170G>T	CCDS34938.1	.	.	.	.	.	.	.	.	.	.	G	19.14	3.769732	0.69992	.	.	ENSG00000187955	ENST00000309791;ENST00000297848;ENST00000247781	D;D;D	0.83837	-1.77;-1.77;-1.77	5.21	0.864	0.19068	von Willebrand factor, type A (3);	0.118196	0.85682	D	0.000000	D	0.87410	0.6170	M	0.75615	2.305	0.80722	D	1	P	0.49783	0.928	P	0.58780	0.845	D	0.86909	0.2059	10	0.72032	D	0.01	.	11.4189	0.49969	0.2812:0.0:0.7188:0.0	.	1057	Q05707	COEA1_HUMAN	I	1057;1057;962	ENSP00000311809:S1057I;ENSP00000297848:S1057I;ENSP00000247781:S962I	ENSP00000247781:S962I	S	+	2	0	COL14A1	121351551	1.000000	0.71417	0.996000	0.52242	0.948000	0.59901	3.925000	0.56484	0.274000	0.22072	0.561000	0.74099	AGC		0.393	COL14A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313657.2	NM_021110		23	42	1	0	5.35047e-06	1	5.54705e-06	23	42					T	121282370	G	T	121282370	3	4	435	1	0	0	0	0	1	0	0	0	3671	971	34	5	3268	5	COL14A1	8	121282370	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	267021	121282370	25081652	4121	25046											
COL14A1	7373	broad.mit.edu	37	chr8	121292281	121292281	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctttgtggatgactttgacGcctttaagaaaatcgaagat	12	14	9	6	2	1	4	0	2	1	2	2	6	1	5	1	1	0	0	1	1	4	4	rs115901568	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:121292281G>A	ENST00000297848.3	+	29	3859	c.3589G>A	c.(3589-3591)Gcc>Acc	p.A1197T	COL14A1_ENST00000309791.4_Missense_Mutation_p.A1197T|COL14A1_ENST00000247781.3_Missense_Mutation_p.A1102T	NM_021110.1	NP_066933.1			collagen, type XIV, alpha 1											NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			TGACTTTGACGCCTTTAAGAA	0.423													G|||	2	0.000399361	0.0015	0	5008	,	,		17692	0		0	False		,,,				2504	0					ENST00000297848.3																			0				NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119						c.(3589-3591)Gcc>Acc		collagen, type XIV, alpha 1		G	THR/ALA	1,4405	2.1+/-5.4	0,1,2202	136	123	127		3589	5.4	1	8	dbSNP_132	127	9,8591	7.1+/-27.0	0,9,4291	yes	missense	COL14A1	NM_021110.1	58	0,10,6493	AA,AG,GG		0.1047,0.0227,0.0769	probably-damaging	1197/1797	121292281	10,12996	2203	4300	6503	SO:0001583	missense	7373				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging	g.chr8:121292281G>A		CCDS34938.1	8q23	2013-02-11	2008-02-04		ENSG00000187955	ENSG00000187955		"Collagens", "Fibronectin type III domain containing"	2191	protein-coding gene	gene with protein product		120324	"undulin"	UND		1716629, 9427527	Standard	NM_021110		Approved		uc003yox.4	Q05707	OTTHUMG00000149877	ENST00000297848.3:c.3589G>A	8.37:g.121292281G>A	ENSP00000297848:p.Ala1197Thr					COL14A1_ENST00000309791.4_Missense_Mutation_p.A1197T|COL14A1_ENST00000247781.3_Missense_Mutation_p.A1102T	p.A1197T	NM_021110.1	NP_066933.1	Q05707	COEA1_HUMAN	OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)		29	3859	+	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		1197			VWFA 2.			Missense_Mutation	SNP	ENST00000297848.3	37	c.3589G>A	CCDS34938.1	3	0.0013736263736263737	3	0.006097560975609756	0	0.0	0	0.0	0	0.0	G	29.6	5.023255	0.93462	2.27E-4	0.001047	ENSG00000187955	ENST00000309791;ENST00000297848;ENST00000247781	T;T;T	0.78595	-1.19;-1.19;-1.19	5.42	5.42	0.78866	von Willebrand factor, type A (3);	0.000000	0.85682	D	0.000000	D	0.84288	0.5439	M	0.70595	2.14	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.85537	0.1213	10	0.46703	T	0.11	.	19.1913	0.93667	0.0:0.0:1.0:0.0	.	1197	Q05707	COEA1_HUMAN	T	1197;1197;1102	ENSP00000311809:A1197T;ENSP00000297848:A1197T;ENSP00000247781:A1102T	ENSP00000247781:A1102T	A	+	1	0	COL14A1	121361462	1.000000	0.71417	0.997000	0.53966	0.642000	0.38348	9.837000	0.99465	2.539000	0.85634	0.655000	0.94253	GCC		0.423	COL14A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313657.2	NM_021110		29	53	0	0	0	1	0	29	53					A	121292281	G	A	121292281	3	1	435	1	0	0	0	0	1	0	0	0	3671	1087	38	1	3699	1	COL14A1	8	121292281	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	9911	121292281	25071741	4122	25047											
MTBP	27085	broad.mit.edu	37	chr8	121518996	121518996	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gttgctgggccacaaagaggGtcctcgggactcaatcacat	10	8	12	11	1	2	1	2	0	0	1	4	2	3	2	2	3	1	2	2	3	2	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:121518996G>A	ENST00000305949.1	+	16	1823	c.1778G>A	c.(1777-1779)gGt>gAt	p.G593D		NM_022045.4	NP_071328.2	Q96DY7	MTBP_HUMAN	MDM2 binding protein	593	Interaction with MDM2. {ECO:0000250}.				cell cycle arrest (GO:0007050)|mitotic spindle checkpoint (GO:0071174)|negative regulation of cell proliferation (GO:0008285)|protein localization to kinetochore (GO:0034501)|traversing start control point of mitotic cell cycle (GO:0007089)	chromatin (GO:0000785)|kinetochore (GO:0000776)				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	30	Lung NSC(37;5.68e-08)|Ovarian(258;0.00769)|all_neural(195;0.0804)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00503)			CACAAAGAGGGTCCTCGGGAC	0.403																																						ENST00000305949.1																			0				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	30						c.(1777-1779)gGt>gAt		Mdm2, transformed 3T3 cell double minute 2, p53 binding protein (mouse) binding protein, 104kDa							84	79	81					8																	121518996		2203	4300	6503	SO:0001583	missense	27085				cell cycle arrest			g.chr8:121518996G>A		CCDS6333.1	8q24.1-q24.2	2014-03-03	2014-03-03		ENSG00000172167	ENSG00000172167			7417	protein-coding gene	gene with protein product		605927	"MDM2 (mouse double minute 2)-binding protein, 104kD", "Mdm2, transformed 3T3 cell double minute 2, p53 binding protein (mouse) binding protein, 104kDa"			10906133, 11060448	Standard	NM_022045		Approved		uc003ypc.2	Q96DY7	OTTHUMG00000165040	ENST00000305949.1:c.1778G>A	8.37:g.121518996G>A	ENSP00000303398:p.Gly593Asp						p.G593D	NM_022045.3	NP_071328.2	Q96DY7	MTBP_HUMAN	STAD - Stomach adenocarcinoma(47;0.00503)		16	1823	+	Lung NSC(37;5.68e-08)|Ovarian(258;0.00769)|all_neural(195;0.0804)|Hepatocellular(40;0.161)		593			Interaction with MDM2 (By similarity).		B4DUR5|Q9HA89	Missense_Mutation	SNP	ENST00000305949.1	37	c.1778G>A	CCDS6333.1	.	.	.	.	.	.	.	.	.	.	G	19.63	3.863429	0.71949	.	.	ENSG00000172167	ENST00000305949	.	.	.	5.44	3.61	0.41365	.	0.278061	0.36665	N	0.002477	T	0.59838	0.2223	M	0.66939	2.045	0.43149	D	0.994911	P	0.42973	0.796	B	0.43251	0.413	T	0.64037	-0.6501	9	0.59425	D	0.04	-5.8481	14.5671	0.68185	0.0:0.0:0.7332:0.2668	.	593	Q96DY7	MTBP_HUMAN	D	593	.	ENSP00000303398:G593D	G	+	2	0	MTBP	121588177	1.000000	0.71417	0.989000	0.46669	0.855000	0.48748	4.037000	0.57311	0.641000	0.30601	-0.261000	0.10672	GGT		0.403	MTBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381530.1	NM_022045		9	38	0	0	0	1	0	9	38					A	121518996	G	A	121518996	3	1	435	1	0	0	0	0	1	0	0	0	9912	1261	44	3	1840	3	MTBP	8	121518996	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	226715	121518996	24845026	4123	25048											
MTBP	27085	broad.mit.edu	37	chr8	121528227	121528227	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attttctgaacttcagtctcGtcttattcgttatgaaactc	9	18	5	9	2	4	2	1	2	3	0	7	2	4	2	0	0	2	1	0	0	4	6	rs143250160		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:121528227G>A	ENST00000305949.1	+	18	2087	c.2042G>A	c.(2041-2043)cGt>cAt	p.R681H		NM_022045.4	NP_071328.2	Q96DY7	MTBP_HUMAN	MDM2 binding protein	681	Interaction with MDM2. {ECO:0000250}.				cell cycle arrest (GO:0007050)|mitotic spindle checkpoint (GO:0071174)|negative regulation of cell proliferation (GO:0008285)|protein localization to kinetochore (GO:0034501)|traversing start control point of mitotic cell cycle (GO:0007089)	chromatin (GO:0000785)|kinetochore (GO:0000776)				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	30	Lung NSC(37;5.68e-08)|Ovarian(258;0.00769)|all_neural(195;0.0804)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00503)			CTTCAGTCTCGTCTTATTCGT	0.403																																						ENST00000305949.1																			0				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	30						c.(2041-2043)cGt>cAt		Mdm2, transformed 3T3 cell double minute 2, p53 binding protein (mouse) binding protein, 104kDa		G	HIS/ARG	0,4406		0,0,2203	121	116	118		2042	5.2	1	8	dbSNP_134	118	1,8597	1.2+/-3.3	0,1,4298	no	missense	MTBP	NM_022045.3	29	0,1,6501	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	681/905	121528227	1,13003	2203	4299	6502	SO:0001583	missense	27085				cell cycle arrest			g.chr8:121528227G>A		CCDS6333.1	8q24.1-q24.2	2014-03-03	2014-03-03		ENSG00000172167	ENSG00000172167			7417	protein-coding gene	gene with protein product		605927	"MDM2 (mouse double minute 2)-binding protein, 104kD", "Mdm2, transformed 3T3 cell double minute 2, p53 binding protein (mouse) binding protein, 104kDa"			10906133, 11060448	Standard	NM_022045		Approved		uc003ypc.2	Q96DY7	OTTHUMG00000165040	ENST00000305949.1:c.2042G>A	8.37:g.121528227G>A	ENSP00000303398:p.Arg681His						p.R681H	NM_022045.3	NP_071328.2	Q96DY7	MTBP_HUMAN	STAD - Stomach adenocarcinoma(47;0.00503)		18	2087	+	Lung NSC(37;5.68e-08)|Ovarian(258;0.00769)|all_neural(195;0.0804)|Hepatocellular(40;0.161)		681			Interaction with MDM2 (By similarity).		B4DUR5|Q9HA89	Missense_Mutation	SNP	ENST00000305949.1	37	c.2042G>A	CCDS6333.1	.	.	.	.	.	.	.	.	.	.	G	28.6	4.933268	0.92458	0.0	1.16E-4	ENSG00000172167	ENST00000305949	.	.	.	6.07	5.2	0.72013	.	0.053759	0.85682	N	0.000000	T	0.61350	0.2340	M	0.74258	2.255	0.80722	D	1	P	0.36048	0.534	B	0.28991	0.097	T	0.66720	-0.5852	9	0.72032	D	0.01	-13.5495	15.145	0.72643	0.0671:0.0:0.9329:0.0	.	681	Q96DY7	MTBP_HUMAN	H	681	.	ENSP00000303398:R681H	R	+	2	0	MTBP	121597408	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	8.856000	0.92245	1.582000	0.49881	0.655000	0.94253	CGT		0.403	MTBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381530.1	NM_022045		33	53	0	0	0	1	0	33	53					A	121528227	G	A	121528227	3	1	435	1	0	0	0	0	1	0	0	0	9912	1145	40	1	2112	1	MTBP	8	121528227	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	9231	121528227	24835795	4124	25049											
ZHX2	22882	broad.mit.edu	37	chr8	123963874	123963874	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcggcacaccacagcctgacGtggccaaggacagttgggca	10	5	13	13	2	0	1	0	1	0	0	1	2	0	2	3	4	1	3	3	4	1	1	rs375028357		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:123963874G>A	ENST00000314393.4	+	3	959	c.124G>A	c.(124-126)Gtg>Atg	p.V42M		NM_014943.3	NP_055758.1	Q9Y6X8	ZHX2_HUMAN	zinc fingers and homeoboxes 2	42					mRNA catabolic process (GO:0006402)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	45	Lung NSC(37;2e-09)|Ovarian(258;0.0205)|Hepatocellular(40;0.105)		STAD - Stomach adenocarcinoma(47;0.00527)			ACAGCCTGACGTGGCCAAGGA	0.483																																					Esophageal Squamous(94;1056 1388 11767 13799 49639)	ENST00000314393.4																			0				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	45						c.(124-126)Gtg>Atg		zinc fingers and homeoboxes 2		G	MET/VAL	1,4405	2.1+/-5.4	0,1,2202	76	67	70		124	-3.3	0	8		70	0,8600		0,0,4300	no	missense	ZHX2	NM_014943.3	21	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	42/838	123963874	1,13005	2203	4300	6503	SO:0001583	missense	22882					cytoplasm|nucleus|plasma membrane	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:123963874G>A	AB020661	CCDS6336.1	8q24.13	2012-03-09	2004-01-23		ENSG00000178764	ENSG00000178764		"Zinc fingers, C2H2-type", "Homeoboxes / ZF class"	18513	protein-coding gene	gene with protein product		609185	"zinc-fingers and homeoboxes 2"			10048485, 12741956	Standard	XM_005250837		Approved	KIAA0854	uc003ypk.1	Q9Y6X8	OTTHUMG00000165077	ENST00000314393.4:c.124G>A	8.37:g.123963874G>A	ENSP00000314709:p.Val42Met						p.V42M	NM_014943.3	NP_055758.1	Q9Y6X8	ZHX2_HUMAN	STAD - Stomach adenocarcinoma(47;0.00527)		3	959	+	Lung NSC(37;2e-09)|Ovarian(258;0.0205)|Hepatocellular(40;0.105)		42						Missense_Mutation	SNP	ENST00000314393.4	37	c.124G>A	CCDS6336.1	.	.	.	.	.	.	.	.	.	.	G	7.534	0.659230	0.14645	2.27E-4	0.0	ENSG00000178764	ENST00000314393	T	0.18502	2.21	5.52	-3.35	0.04928	.	2.173980	0.02378	N	0.078563	T	0.15262	0.0368	L	0.29908	0.895	0.09310	N	1	B	0.09022	0.002	B	0.01281	0.0	T	0.41161	-0.9524	10	0.51188	T	0.08	0.2628	13.0214	0.58789	0.3548:0.0:0.6452:0.0	.	42	Q9Y6X8	ZHX2_HUMAN	M	42	ENSP00000314709:V42M	ENSP00000314709:V42M	V	+	1	0	ZHX2	124033055	0.000000	0.05858	0.000000	0.03702	0.683000	0.39861	-1.137000	0.03219	-0.495000	0.06659	0.561000	0.74099	GTG		0.483	ZHX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381709.1	NM_014943		6	8	0	0	0	1	0	6	8					A	123963874	G	A	123963874	3	1	435	1	0	0	0	0	1	0	0	0	17673	1145	40	1	126	1	ZHX2	8	123963874	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	2435647	123963874	22400148	4125	25050											
ZHX2	22882	broad.mit.edu	37	chr8	123966145	123966145	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	attacgtggaggtgacggtcGgggaggaggatgcgatctca	9	8	18	6	4	1	1	1	1	1	0	3	6	1	5	0	7	2	0	0	7	1	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:123966145G>A	ENST00000314393.4	+	3	3230	c.2395G>A	c.(2395-2397)Ggg>Agg	p.G799R		NM_014943.3	NP_055758.1	Q9Y6X8	ZHX2_HUMAN	zinc fingers and homeoboxes 2	799					mRNA catabolic process (GO:0006402)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	45	Lung NSC(37;2e-09)|Ovarian(258;0.0205)|Hepatocellular(40;0.105)		STAD - Stomach adenocarcinoma(47;0.00527)			GGTGACGGTCGGGGAGGAGGA	0.617																																					Esophageal Squamous(94;1056 1388 11767 13799 49639)	ENST00000314393.4																			0				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	45						c.(2395-2397)Ggg>Agg		zinc fingers and homeoboxes 2							113	90	98					8																	123966145		2203	4300	6503	SO:0001583	missense	22882					cytoplasm|nucleus|plasma membrane	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:123966145G>A	AB020661	CCDS6336.1	8q24.13	2012-03-09	2004-01-23		ENSG00000178764	ENSG00000178764		"Zinc fingers, C2H2-type", "Homeoboxes / ZF class"	18513	protein-coding gene	gene with protein product		609185	"zinc-fingers and homeoboxes 2"			10048485, 12741956	Standard	XM_005250837		Approved	KIAA0854	uc003ypk.1	Q9Y6X8	OTTHUMG00000165077	ENST00000314393.4:c.2395G>A	8.37:g.123966145G>A	ENSP00000314709:p.Gly799Arg						p.G799R	NM_014943.3	NP_055758.1	Q9Y6X8	ZHX2_HUMAN	STAD - Stomach adenocarcinoma(47;0.00527)		3	3230	+	Lung NSC(37;2e-09)|Ovarian(258;0.0205)|Hepatocellular(40;0.105)		799						Missense_Mutation	SNP	ENST00000314393.4	37	c.2395G>A	CCDS6336.1	.	.	.	.	.	.	.	.	.	.	G	28.5	4.924650	0.92319	.	.	ENSG00000178764	ENST00000314393	T	0.19105	2.17	6.04	6.04	0.98038	.	0.139116	0.47093	D	0.000256	T	0.16214	0.0390	L	0.27053	0.805	0.47862	D	0.999536	P	0.47910	0.902	B	0.32624	0.149	T	0.02610	-1.1134	10	0.87932	D	0	-16.4741	20.5792	0.99380	0.0:0.0:1.0:0.0	.	799	Q9Y6X8	ZHX2_HUMAN	R	799	ENSP00000314709:G799R	ENSP00000314709:G799R	G	+	1	0	ZHX2	124035326	1.000000	0.71417	0.962000	0.40283	0.897000	0.52465	6.659000	0.74412	2.873000	0.98535	0.561000	0.74099	GGG		0.617	ZHX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381709.1	NM_014943		8	13	0	0	0	1	0	8	13					A	123966145	G	A	123966145	3	1	435	1	0	0	0	0	1	0	0	0	17673	1116	39	2	2397	2	ZHX2	8	123966145	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	2271	123966145	22397877	4126	25051											
DERL1	79139	broad.mit.edu	37	chr8	124031544	124031544	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tccaataagctcattgattaCcctgcaaagagagccaaatg	15	9	7	10	0	1	2	1	1	0	1	2	3	2	2	3	0	4	2	3	0	5	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:124031544C>T	ENST00000259512.4	-	7	808	c.508G>A	c.(508-510)Gta>Ata	p.V170I	RP11-557C18.3_ENST00000521258.1_RNA|DERL1_ENST00000523036.1_Splice_Site_p.V70I|DERL1_ENST00000419562.2_Splice_Site_p.V70I|DERL1_ENST00000519018.1_Splice_Site_p.V70I|DERL1_ENST00000405944.3_Intron	NM_001134671.2|NM_024295.5	NP_001128143.1|NP_077271.1	Q9BUN8	DERL1_HUMAN	derlin 1	170					endoplasmic reticulum unfolded protein response (GO:0030968)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|establishment of protein localization (GO:0045184)|intracellular transport of viral protein in host cell (GO:0019060)|response to unfolded protein (GO:0006986)|retrograde protein transport, ER to cytosol (GO:0030970)	early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|Hrd1p ubiquitin ligase complex (GO:0000836)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|membrane (GO:0016020)	MHC class I protein binding (GO:0042288)|receptor activity (GO:0004872)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)	8	Lung NSC(37;1.06e-09)|Ovarian(258;0.0205)		STAD - Stomach adenocarcinoma(47;0.00527)			TCATTGATTACCCTGCAAAGA	0.388																																						ENST00000259512.4																			0				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)	8						c.e7-1		derlin 1							61	59	60					8																	124031544		2203	4300	6503	SO:0001630	splice_region_variant	79139				endoplasmic reticulum unfolded protein response|ER-associated protein catabolic process|intracellular transport of viral proteins in host cell|retrograde protein transport, ER to cytosol	integral to endoplasmic reticulum membrane	MHC class I protein binding|receptor activity	g.chr8:124031544C>T	BC002457	CCDS6337.1, CCDS47915.1	8q24.13	2012-02-01	2012-02-01		ENSG00000136986	ENSG00000136986			28454	protein-coding gene	gene with protein product		608813	"Der1-like domain family, member 1"			12975309, 15215855	Standard	NM_024295		Approved	MGC3067, PRO2577, FLJ13784, DER1, DER-1, derlin-1	uc003ypl.3	Q9BUN8	OTTHUMG00000165080	ENST00000259512.4:c.507-1G>A	8.37:g.124031544C>T						DERL1_ENST00000419562.2_Splice_Site_p.V70_splice|RP11-557C18.3_ENST00000521258.1_RNA|DERL1_ENST00000519018.1_Splice_Site_p.V70_splice|DERL1_ENST00000523036.1_Splice_Site_p.V70_splice|DERL1_ENST00000405944.3_Intron	p.V170_splice	NM_001134671.1|NM_024295.4	NP_001128143.1|NP_077271.1	Q9BUN8	DERL1_HUMAN	STAD - Stomach adenocarcinoma(47;0.00527)		7	808	-	Lung NSC(37;1.06e-09)|Ovarian(258;0.0205)		170					B3KW41|E9PH19	Splice_Site	SNP	ENST00000259512.4	37	c.506_splice	CCDS6337.1	.	.	.	.	.	.	.	.	.	.	C	4.321	0.058999	0.08339	.	.	ENSG00000136986	ENST00000259512;ENST00000419562;ENST00000519018;ENST00000523036	T;T;T;T	0.31247	2.83;1.5;2.83;2.83	5.51	4.63	0.57726	.	0.057033	0.64402	D	0.000002	T	0.27454	0.0674	N	0.20986	0.625	0.51012	D	0.999905	P;B	0.39624	0.681;0.0	P;B	0.48166	0.569;0.003	T	0.03750	-1.1007	10	0.14252	T	0.57	.	11.5934	0.50959	0.0:0.8562:0.0:0.1438	.	70;170	B4E1G1;Q9BUN8	.;DERL1_HUMAN	I	170;70;70;70	ENSP00000259512:V170I;ENSP00000389965:V70I;ENSP00000430086:V70I;ENSP00000429199:V70I	ENSP00000259512:V170I	V	-	1	0	DERL1	124100725	0.997000	0.39634	0.988000	0.46212	0.977000	0.68977	2.228000	0.42981	1.318000	0.45170	0.655000	0.94253	GTA		0.388	DERL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381714.2	NM_024295	Missense_Mutation	10	16	0	0	0	1	0	10	16					T	124031544	C	T	124031544	5	4	435	1	0	0	0	0	0	0	1	0	4446	521	18	3	255	3	DERL1	8	124031544	Splice_Site	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	65399	124031544	22332478	4127	25052											
WDR67	93594	broad.mit.edu	37	chr8	124089435	124089435	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggcttttgatggcacaggCgactgcttaattgctgggga	7	12	15	7	1	0	1	0	1	0	0	0	3	0	2	0	5	2	4	0	5	1	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:124089435C>T	ENST00000287380.1	+	2	252	c.162C>T	c.(160-162)ggC>ggT	p.G54G	TBC1D31_ENST00000327098.5_Silent_p.G54G|TBC1D31_ENST00000309336.3_Silent_p.G54G|TBC1D31_ENST00000378080.2_5'UTR|TBC1D31_ENST00000521676.1_5'UTR|TBC1D31_ENST00000522420.1_5'UTR	NM_145647.3	NP_663622.2	Q96DN5	TBC31_HUMAN	TBC1 domain family, member 31	54						centrosome (GO:0005813)	Rab GTPase activator activity (GO:0005097)										ATGGCACAGGCGACTGCTTAA	0.358																																						ENST00000287380.1																			0											c.(160-162)ggC>ggT		TBC1 domain family, member 31							137	131	133					8																	124089435		2203	4300	6503	SO:0001819	synonymous_variant	93594							g.chr8:124089435C>T	AK094612	CCDS6338.1, CCDS47916.1	8q24.13	2013-07-10	2013-07-10	2013-07-10	ENSG00000156787	ENSG00000156787		"WD repeat domain containing"	30888	protein-coding gene	gene with protein product			"WD repeat domain 67"	WDR67		12477932	Standard	NM_001145088		Approved	MGC21654, Gm85	uc003ypp.2	Q96DN5	OTTHUMG00000165081	ENST00000287380.1:c.162C>T	8.37:g.124089435C>T						TBC1D31_ENST00000521676.1_5'UTR|TBC1D31_ENST00000327098.5_Silent_p.G54G|TBC1D31_ENST00000378080.2_5'UTR|TBC1D31_ENST00000522420.1_5'UTR|TBC1D31_ENST00000309336.3_Silent_p.G54G	p.G54G	NM_145647.3	NP_663622.2					2	252	+								B7ZL19|Q2M2J9|Q3MIR6|Q8TBP9	Silent	SNP	ENST00000287380.1	37	c.162C>T	CCDS6338.1																																																																																				0.358	TBC1D31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381721.1	NM_145647		36	60	0	0	0	1	0	36	60					T	124089435	C	T	124089435	2	4	435	1	0	0	0	0	0	0	0	1	17315	755	27	1		1	WDR67	8	124089435	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	57891	124089435	22274587	4128	25053											
ATAD2	29028	broad.mit.edu	37	chr8	124383983	124383983	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tctaatcctacaacttcgacGcacttcaacatcaccattat	13	12	2	14	2	3	0	2	0	1	0	5	1	4	0	2	0	3	1	2	0	5	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:124383983G>A	ENST00000287394.5	-	4	570	c.463C>T	c.(463-465)Cgt>Tgt	p.R155C	ATAD2_ENST00000534257.1_5'Flank|ATAD2_ENST00000521903.1_5'UTR	NM_014109.3	NP_054828.2	Q6PL18	ATAD2_HUMAN	ATPase family, AAA domain containing 2	155					ATP catabolic process (GO:0006200)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|lung(16)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	48	Lung NSC(37;1.25e-09)|Ovarian(258;0.00838)		STAD - Stomach adenocarcinoma(47;0.00288)			CAACTTCGACGCACTTCAACA	0.368																																						ENST00000287394.5																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|lung(16)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	48						c.(463-465)Cgt>Tgt		ATPase family, AAA domain containing 2							197	148	165					8																	124383983		2203	4300	6503	SO:0001583	missense	29028				regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleus	ATP binding|ATPase activity	g.chr8:124383983G>A	BC019909	CCDS6343.1	8q24.13	2014-01-21		2007-02-08	ENSG00000156802	ENSG00000156802		"ATPases / AAA-type"	30123	protein-coding gene	gene with protein product		611941				12477932	Standard	NM_014109		Approved	PRO2000, DKFZp667N1320, MGC5254, MGC29843, CT137	uc003yqh.4	Q6PL18	OTTHUMG00000165090	ENST00000287394.5:c.463C>T	8.37:g.124383983G>A	ENSP00000287394:p.Arg155Cys					ATAD2_ENST00000521903.1_5'UTR	p.R155C	NM_014109.3	NP_054828.2	Q6PL18	ATAD2_HUMAN	STAD - Stomach adenocarcinoma(47;0.00288)		4	570	-	Lung NSC(37;1.25e-09)|Ovarian(258;0.00838)		155					Q14CR1|Q658P2|Q68CQ0|Q6PJV6|Q8N890|Q9UHS5	Missense_Mutation	SNP	ENST00000287394.5	37	c.463C>T	CCDS6343.1	.	.	.	.	.	.	.	.	.	.	G	19.95	3.922157	0.73213	.	.	ENSG00000156802	ENST00000287394	T	0.09163	3.01	4.86	4.86	0.63082	.	1.751020	0.02402	N	0.080817	T	0.42471	0.1204	M	0.75264	2.295	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.00893	-1.1524	10	0.87932	D	0	-6.9369	17.6023	0.88028	0.0:0.0:1.0:0.0	.	155	Q6PL18	ATAD2_HUMAN	C	155	ENSP00000287394:R155C	ENSP00000287394:R155C	R	-	1	0	ATAD2	124453164	1.000000	0.71417	0.990000	0.47175	0.599000	0.36880	5.741000	0.68638	2.231000	0.72958	0.561000	0.74099	CGT		0.368	ATAD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381766.2	NM_014109		11	24	0	0	0	1	0	11	24					A	124383983	G	A	124383983	3	1	435	1	0	0	0	0	1	0	0	0	1071	1087	38	1	3809	1	ATAD2	8	124383983	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	294548	124383983	21980039	4129	25054											
FBXO32	114907	broad.mit.edu	37	chr8	124547022	124547022	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agttcaggctgttgaaaagaTtctccttattgtatacctcc	10	15	7	9	0	2	2	1	1	1	1	4	2	3	2	3	1	1	4	3	1	5	7			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:124547022T>G	ENST00000517956.1	-	2	340	c.149A>C	c.(148-150)aAt>aCt	p.N50T	FBXO32_ENST00000443022.2_Missense_Mutation_p.N50T	NM_058229.3|NM_148177.2	NP_478136.1|NP_680482.1	Q969P5	FBX32_HUMAN	F-box protein 32	50					cellular response to dexamethasone stimulus (GO:0071549)|protein ubiquitination (GO:0016567)|response to denervation involved in regulation of muscle adaptation (GO:0014894)	nucleolus (GO:0005730)|Z disc (GO:0030018)				autonomic_ganglia(1)|breast(3)|endometrium(2)|large_intestine(5)|lung(6)|skin(3)|stomach(1)	21	Lung NSC(37;1.13e-13)|Ovarian(258;0.00838)		STAD - Stomach adenocarcinoma(47;0.00288)			GTTGAAAAGATTCTCCTTATT	0.378																																						ENST00000517956.1																			0				autonomic_ganglia(1)|breast(3)|endometrium(2)|large_intestine(5)|lung(6)|skin(3)|stomach(1)	21						c.(148-150)aAt>aCt		F-box protein 32							203	185	191					8																	124547022		2203	4300	6503	SO:0001583	missense	114907							g.chr8:124547022T>G	AJ420108	CCDS6345.1, CCDS56553.1	8q24.13	2008-01-28	2004-06-15		ENSG00000156804	ENSG00000156804		"F-boxes /  "other""	16731	protein-coding gene	gene with protein product		606604	"F-box only protein 32"			11679633, 11717410	Standard	NM_058229		Approved	MAFbx, ATROGIN1, Fbx32	uc003yqr.3	Q969P5	OTTHUMG00000164981	ENST00000517956.1:c.149A>C	8.37:g.124547022T>G	ENSP00000428205:p.Asn50Thr					FBXO32_ENST00000443022.2_Missense_Mutation_p.N50T	p.N50T	NM_058229.3|NM_148177.2	NP_478136.1|NP_680482.1	Q969P5	FBX32_HUMAN	STAD - Stomach adenocarcinoma(47;0.00288)		2	340	-	Lung NSC(37;1.13e-13)|Ovarian(258;0.00838)		50					A4KYM0	Missense_Mutation	SNP	ENST00000517956.1	37	c.149A>C	CCDS6345.1	.	.	.	.	.	.	.	.	.	.	T	15.60	2.881183	0.51801	.	.	ENSG00000156804	ENST00000517956;ENST00000443022	T;T	0.14640	2.49;2.49	5.64	4.47	0.54385	.	0.136053	0.64402	D	0.000004	T	0.17619	0.0423	M	0.64997	1.995	0.27515	N	0.951566	P;B	0.46512	0.879;0.001	B;B	0.42916	0.402;0.005	T	0.05801	-1.0863	10	0.37606	T	0.19	-13.0432	12.3533	0.55161	0.1265:0.0:0.0:0.8734	.	50;50	A4KYM0;Q969P5	.;FBX32_HUMAN	T	50	ENSP00000428205:N50T;ENSP00000390790:N50T	ENSP00000390790:N50T	N	-	2	0	FBXO32	124616203	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	7.127000	0.77210	1.052000	0.40392	0.528000	0.53228	AAT		0.378	FBXO32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381281.1			29	38	0	0	0	1	0	29	38					G	124547022	T	G	124547022	3	3	435	1	0	0	0	0	1	0	0	0	5742	1493	52	5	950	5	FBXO32	8	124547022	Missense_Mutation	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	163039	124547022	21817000	4130	25055											
FAM91A1	157769	broad.mit.edu	37	chr8	124799552	124799552	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtctacaggacacacgaagcGcatcgcattcctgtttgact	10	10	9	12	3	1	1	0	1	1	0	3	3	2	2	1	1	2	3	1	1	2	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:124799552G>A	ENST00000334705.7	+	13	1376	c.1130G>A	c.(1129-1131)cGc>cAc	p.R377H	FAM91A1_ENST00000521166.1_Missense_Mutation_p.R377H	NM_144963.2	NP_659400	Q658Y4	F91A1_HUMAN	family with sequence similarity 91, member A1	377										breast(4)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28	Lung NSC(37;8.76e-13)|Ovarian(258;0.00744)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00192)			CACACGAAGCGCATCGCATTC	0.388																																						ENST00000334705.7																			0				breast(4)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28						c.(1129-1131)cGc>cAc		family with sequence similarity 91, member A1							77	74	74					8																	124799552		1881	4108	5989	SO:0001583	missense	157769							g.chr8:124799552G>A	AK074370	CCDS6346.2	8q24.13	2005-10-04			ENSG00000176853	ENSG00000176853			26306	protein-coding gene	gene with protein product						12477932	Standard	XM_005250806		Approved	FLJ23790	uc003yqv.3	Q658Y4	OTTHUMG00000133021	ENST00000334705.7:c.1130G>A	8.37:g.124799552G>A	ENSP00000335082:p.Arg377His					FAM91A1_ENST00000521166.1_Missense_Mutation_p.R377H	p.R377H	NM_144963.2	NP_659400.2	Q658Y4	F91A1_HUMAN	STAD - Stomach adenocarcinoma(47;0.00192)		13	1376	+	Lung NSC(37;8.76e-13)|Ovarian(258;0.00744)|all_neural(195;0.0741)		377					B6YY23|Q658T5|Q8TE89	Missense_Mutation	SNP	ENST00000334705.7	37	c.1130G>A	CCDS6346.2	.	.	.	.	.	.	.	.	.	.	G	18.87	3.715967	0.68844	.	.	ENSG00000176853	ENST00000521166;ENST00000334705	T;T	0.60040	0.22;0.22	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	T	0.61602	0.2360	M	0.81179	2.53	0.80722	D	1	B;P	0.36048	0.308;0.534	B;B	0.28991	0.067;0.097	T	0.67401	-0.5680	10	0.62326	D	0.03	.	19.8193	0.96586	0.0:0.0:1.0:0.0	.	377;377	E7ER68;Q658Y4	.;F91A1_HUMAN	H	377	ENSP00000429491:R377H;ENSP00000335082:R377H	ENSP00000335082:R377H	R	+	2	0	FAM91A1	124868733	1.000000	0.71417	1.000000	0.80357	0.230000	0.25150	9.793000	0.99091	2.699000	0.92147	0.650000	0.86243	CGC		0.388	FAM91A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256607.1	NM_144963		12	27	0	0	0	1	0	12	27					A	124799552	G	A	124799552	3	1	435	1	0	0	0	0	1	0	0	0	5651	1087	38	1	1180	1	FAM91A1	8	124799552	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	252530	124799552	21564470	4131	25056											
ZNF572	137209	broad.mit.edu	37	chr8	125988686	125988686	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaatggtctaaaagacataGaccacaacattataagcatg	19	8	7	7	0	1	3	0	0	1	3	1	3	1	3	1	1	2	1	1	1	7	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:125988686G>T	ENST00000319286.5	+	3	330	c.176G>T	c.(175-177)aGa>aTa	p.R59I		NM_152412.2	NP_689625.2	Q7Z3I7	ZN572_HUMAN	zinc finger protein 572	59					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R59T(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)	31	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)			AAAAGACATAGACCACAACAT	0.373										HNSCC(60;0.17)																												ENST00000319286.5																			1	Substitution - Missense(1)	p.R59T(1)	large_intestine(1)	endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)	31						c.(175-177)aGa>aTa		zinc finger protein 572							78	77	77					8																	125988686		2203	4300	6503	SO:0001583	missense	137209				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr8:125988686G>T	BX537876	CCDS6354.1	8q24.13	2013-09-20			ENSG00000180938	ENSG00000180938		"Zinc fingers, C2H2-type"	26758	protein-coding gene	gene with protein product							Standard	NM_152412		Approved	FLJ38002	uc003yrr.3	Q7Z3I7	OTTHUMG00000164988	ENST00000319286.5:c.176G>T	8.37:g.125988686G>T	ENSP00000319305:p.Arg59Ile	HNSCC(60;0.17)					p.R59I	NM_152412.2	NP_689625.2	Q7Z3I7	ZN572_HUMAN	STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)		3	330	+	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		59					A1L4F1|Q8N1Q0	Missense_Mutation	SNP	ENST00000319286.5	37	c.176G>T	CCDS6354.1	.	.	.	.	.	.	.	.	.	.	G	3.080	-0.189245	0.06299	.	.	ENSG00000180938	ENST00000319286	T	0.07688	3.17	4.73	2.84	0.33178	.	0.655352	0.12756	N	0.441764	T	0.04092	0.0114	N	0.08118	0	0.09310	N	1	B	0.15141	0.012	B	0.11329	0.006	T	0.36768	-0.9734	10	0.26408	T	0.33	-0.0366	7.2469	0.26127	0.0934:0.0:0.7343:0.1723	.	59	Q7Z3I7	ZN572_HUMAN	I	59	ENSP00000319305:R59I	ENSP00000319305:R59I	R	+	2	0	ZNF572	126057867	0.000000	0.05858	0.007000	0.13788	0.016000	0.09150	-0.599000	0.05700	2.467000	0.83353	0.561000	0.74099	AGA		0.373	ZNF572-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381359.1	NM_152412		21	35	1	0	4.54149e-19	1	5.02196e-19	21	35					T	125988686	G	T	125988686	3	4	435	1	0	0	0	0	1	0	0	0	18001	942	33	5	182	5	ZNF572	8	125988686	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	1189134	125988686	20375336	4132	25057											
ZNF572	137209	broad.mit.edu	37	chr8	125988871	125988871	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagaacataccaatgcctgtGtccagcagaattcatccttt	12	11	7	11	0	1	2	1	0	0	2	3	3	3	2	4	0	4	1	4	0	4	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:125988871G>A	ENST00000319286.5	+	3	515	c.361G>A	c.(361-363)Gtc>Atc	p.V121I		NM_152412.2	NP_689625.2	Q7Z3I7	ZN572_HUMAN	zinc finger protein 572	121					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)	31	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)			CAATGCCTGTGTCCAGCAGAA	0.433										HNSCC(60;0.17)																												ENST00000319286.5																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)	31						c.(361-363)Gtc>Atc		zinc finger protein 572							92	96	94					8																	125988871		2203	4300	6503	SO:0001583	missense	137209				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr8:125988871G>A	BX537876	CCDS6354.1	8q24.13	2013-09-20			ENSG00000180938	ENSG00000180938		"Zinc fingers, C2H2-type"	26758	protein-coding gene	gene with protein product							Standard	NM_152412		Approved	FLJ38002	uc003yrr.3	Q7Z3I7	OTTHUMG00000164988	ENST00000319286.5:c.361G>A	8.37:g.125988871G>A	ENSP00000319305:p.Val121Ile	HNSCC(60;0.17)					p.V121I	NM_152412.2	NP_689625.2	Q7Z3I7	ZN572_HUMAN	STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)		3	515	+	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		121					A1L4F1|Q8N1Q0	Missense_Mutation	SNP	ENST00000319286.5	37	c.361G>A	CCDS6354.1	.	.	.	.	.	.	.	.	.	.	G	0.106	-1.145598	0.01714	.	.	ENSG00000180938	ENST00000319286	T	0.08282	3.11	4.89	0.489	0.16854	.	0.876147	0.09594	N	0.781164	T	0.04452	0.0122	N	0.17872	0.535	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.45086	-0.9285	10	0.33141	T	0.24	2.3493	0.4722	0.00533	0.2671:0.1919:0.3454:0.1956	.	121	Q7Z3I7	ZN572_HUMAN	I	121	ENSP00000319305:V121I	ENSP00000319305:V121I	V	+	1	0	ZNF572	126058052	0.066000	0.20996	0.008000	0.14137	0.236000	0.25371	0.923000	0.28757	0.019000	0.15079	-0.175000	0.13238	GTC		0.433	ZNF572-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381359.1	NM_152412		29	27	0	0	0	1	0	29	27					A	125988871	G	A	125988871	3	1	435	1	0	0	0	0	1	0	0	0	18001	1377	48	3	367	3	ZNF572	8	125988871	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	185	125988871	20375151	4133	25058											
KIAA0196	9897	broad.mit.edu	37	chr8	126049557	126049557	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aattggaaaatagggtaagcGctttgttgttatgtatatct	12	16	10	3	1	1	0	0	0	1	0	1	1	1	1	0	2	1	5	0	2	8	8			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:126049557G>A	ENST00000318410.7	-	26	3452	c.3103C>T	c.(3103-3105)Cgc>Tgc	p.R1035C	KIAA0196_ENST00000517845.1_Missense_Mutation_p.R887C	NM_014846.3	NP_055661.3	Q12768	STRUM_HUMAN	KIAA0196	1035					cell death (GO:0008219)|endosomal transport (GO:0016197)	endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|WASH complex (GO:0071203)				NS(1)|breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	42	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)			TAGGGTAAGCGCTTTGTTGTT	0.313																																						ENST00000318410.7																			0				NS(1)|breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	42						c.(3103-3105)Cgc>Tgc		KIAA0196							117	123	121					8																	126049557		2203	4300	6503	SO:0001583	missense	9897				cell death	WASH complex		g.chr8:126049557G>A		CCDS6355.1	8q24.13	2014-05-09			ENSG00000164961	ENSG00000164961			28984	protein-coding gene	gene with protein product	"strumpellin"	610657	"spastic paraplegia 8 (autosomal dominant)"	SPG8		9973294, 17160902, 23085491	Standard	NM_014846		Approved		uc003yrt.3	Q12768	OTTHUMG00000164991	ENST00000318410.7:c.3103C>T	8.37:g.126049557G>A	ENSP00000318016:p.Arg1035Cys					KIAA0196_ENST00000517845.1_Missense_Mutation_p.R887C	p.R1035C	NM_014846.3	NP_055661.3	Q12768	STRUM_HUMAN	STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)		26	3452	-	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		1035					A8K4R7|Q3KQX5|Q8TBQ2	Missense_Mutation	SNP	ENST00000318410.7	37	c.3103C>T	CCDS6355.1	.	.	.	.	.	.	.	.	.	.	G	25.9	4.689171	0.88735	.	.	ENSG00000164961	ENST00000318410;ENST00000517845	D;D	0.86164	-2.08;-2.08	6.03	6.03	0.97812	.	0.048543	0.85682	D	0.000000	D	0.88876	0.6556	L	0.36672	1.1	0.80722	D	1	P;D	0.60575	0.951;0.988	P;P	0.54401	0.625;0.751	D	0.88622	0.3163	10	0.56958	D	0.05	-11.4316	20.5596	0.99324	0.0:0.0:1.0:0.0	.	887;1035	E7EQI7;Q12768	.;STRUM_HUMAN	C	1035;887	ENSP00000318016:R1035C;ENSP00000429676:R887C	ENSP00000318016:R1035C	R	-	1	0	KIAA0196	126118739	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.406000	0.97321	2.868000	0.98415	0.555000	0.69702	CGC		0.313	KIAA0196-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381369.1	NM_014846		40	82	0	0	0	1	0	40	82					A	126049557	G	A	126049557	3	1	435	1	0	0	0	0	1	0	0	0	8161	1087	38	1	392	1	KIAA0196	8	126049557	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	60686	126049557	20314465	4134	25059											
NSMCE2	286053	broad.mit.edu	37	chr8	126163439	126163439	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tgagtagtgaatatagtatgGacaaggcaatggttgaattt	14	13	12	2	0	0	3	0	3	0	0	0	4	0	4	0	3	0	4	0	3	8	6			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:126163439G>A	ENST00000287437.3	+	4	400	c.184G>A	c.(184-186)Gac>Aac	p.D62N	NSMCE2_ENST00000522563.1_Missense_Mutation_p.D62N|NSMCE2_ENST00000517315.1_Missense_Mutation_p.D2N	NM_173685.2	NP_775956.1	Q96MF7	NSE2_HUMAN	non-SMC element 2, MMS21 homolog (S. cerevisiae)	62					cellular senescence (GO:0090398)|double-strand break repair via homologous recombination (GO:0000724)|mitotic nuclear division (GO:0007067)|positive regulation of maintenance of mitotic sister chromatid cohesion (GO:0034184)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)|protein sumoylation (GO:0016925)|telomere maintenance via recombination (GO:0000722)	chromosome, telomeric region (GO:0000781)|nucleus (GO:0005634)|PML body (GO:0016605)|Smc5-Smc6 complex (GO:0030915)	SUMO ligase activity (GO:0019789)|zinc ion binding (GO:0008270)			breast(1)|lung(4)|ovary(1)|skin(1)|urinary_tract(2)	9	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)			ATATAGTATGGACAAGGCAAT	0.318																																						ENST00000287437.3																			0				breast(1)|lung(4)|ovary(1)|skin(1)|urinary_tract(2)	9						c.(184-186)Gac>Aac		non-SMC element 2, MMS21 homolog (S. cerevisiae)							174	169	170					8																	126163439		2203	4299	6502	SO:0001583	missense	286053				DNA recombination|DNA repair	nucleus	ligase activity|zinc ion binding	g.chr8:126163439G>A	AK057002	CCDS6356.1	8q24.13	2013-01-28	2006-12-21	2006-07-05	ENSG00000156831	ENSG00000156831		"Zinc fingers, MIZ-type"	26513	protein-coding gene	gene with protein product	"zinc finger, MIZ-type containing 7"		"chromosome 8 open reading frame 36", "non-SMC element 2 homolog (MMS21, S. cerevisiae)"	C8orf36		12477932	Standard	NM_173685		Approved	FLJ32440, MMS21, NSE2, ZMIZ7	uc003yrw.2	Q96MF7	OTTHUMG00000164993	ENST00000287437.3:c.184G>A	8.37:g.126163439G>A	ENSP00000287437:p.Asp62Asn					NSMCE2_ENST00000517315.1_Missense_Mutation_p.D2N|NSMCE2_ENST00000522563.1_Missense_Mutation_p.D62N	p.D62N	NM_173685.2	NP_775956.1	Q96MF7	NSE2_HUMAN	STAD - Stomach adenocarcinoma(47;0.000918)		4	400	+	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		62					Q8N549	Missense_Mutation	SNP	ENST00000287437.3	37	c.184G>A	CCDS6356.1	.	.	.	.	.	.	.	.	.	.	G	17.81	3.481648	0.63849	.	.	ENSG00000156831	ENST00000523741;ENST00000517532;ENST00000287437;ENST00000522563;ENST00000517315	T;T;T;T;T	0.42513	0.97;0.97;0.97;0.97;0.97	5.62	5.62	0.85841	.	0.136384	0.47455	D	0.000231	T	0.43765	0.1262	L	0.54323	1.7	0.38917	D	0.957661	P;P	0.39665	0.682;0.651	B;B	0.40329	0.326;0.15	T	0.47394	-0.9121	10	0.56958	D	0.05	.	15.5185	0.75846	0.0:0.0:1.0:0.0	.	62;62	Q96MF7;E5RHW9	NSE2_HUMAN;.	N	62;62;62;62;2	ENSP00000429383:D62N;ENSP00000429612:D62N;ENSP00000287437:D62N;ENSP00000430668:D62N;ENSP00000428846:D2N	ENSP00000287437:D62N	D	+	1	0	NSMCE2	126232621	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.431000	0.59915	2.818000	0.97014	0.655000	0.94253	GAC		0.318	NSMCE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381378.1	NM_173685		62	110	0	0	0	1	0	62	110					A	126163439	G	A	126163439	3	1	435	1	0	0	0	0	1	0	0	0	10676	1174	41	3	190	3	NSMCE2	8	126163439	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	113882	126163439	20200583	4135	25060											
POU5F1B	5462	broad.mit.edu	37	chr8	128428616	128428616	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atacacaggccgatgtggggCtcatcctgggggttctattt	7	12	13	9	1	2	0	1	0	1	0	3	1	3	0	2	5	1	2	2	5	2	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:128428616C>A	ENST00000465342.2	+	2	1662	c.505C>A	c.(505-507)Ctc>Atc	p.L169I	CASC8_ENST00000501396.1_RNA|POU5F1B_ENST00000391675.1_Missense_Mutation_p.L169I|CASC8_ENST00000523825.1_RNA|CASC8_ENST00000502082.1_RNA			Q06416	P5F1B_HUMAN	POU class 5 homeobox 1B	169	POU-specific. {ECO:0000255|PROSITE- ProRule:PRU00530}.			L -> F (in Ref. 5; ADW77415/ADW77420/ ADW77421). {ECO:0000305}.|L -> P (in Ref. 5; ADE48561). {ECO:0000305}.|L -> R (in Ref. 5; ADE48583). {ECO:0000305}.	regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			lung(1)|prostate(1)|urinary_tract(1)	3						CGATGTGGGGCTCATCCTGGG	0.527																																						ENST00000465342.2																			0				lung(1)|prostate(1)|urinary_tract(1)	3						c.(505-507)Ctc>Atc		POU class 5 homeobox 1B							82	86	85					8																	128428616		692	1591	2283	SO:0001583	missense	5462					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr8:128428616C>A	AF268615	CCDS55274.1	8q24.21	2011-06-20	2009-04-15	2009-04-15	ENSG00000212993	ENSG00000212993		"Homeoboxes / POU class"	9223	protein-coding gene	gene with protein product		615739	"POU domain class 5, transcription factor 1 pseudogene 1", "POU class 5 homeobox 1 pseudogene 1"	OTF3P1, POU5F1P1		1408763	Standard	NM_001159542		Approved	OTF3C	uc003ysf.3	Q06416	OTTHUMG00000157807	ENST00000465342.2:c.505C>A	8.37:g.128428616C>A	ENSP00000419298:p.Leu169Ile					CASC8_ENST00000501396.1_RNA|CASC8_ENST00000502082.1_RNA|CASC8_ENST00000523825.1_RNA|POU5F1B_ENST00000391675.1_Missense_Mutation_p.L169I	p.L169I			Q06416	P5F1B_HUMAN			2	1662	+			169			POU-specific.		D5K9S4|D5K9S9|D5K9T0|D5K9T1|D5K9T3|D5K9U3|D5K9U6|D5K9V4|D5K9V6|D5K9W0|D5K9W2|D5K9W7|D5K9X2|D5K9X3|D5K9X5|D5K9X8|D5K9X9|E9LRB1|E9LRB2|E9LRH5|E9LRH6|E9LRH7|E9LRK4|E9LRK5|E9LRK7|E9LRK8|E9LRM7|E9LRM9|E9LRN2|E9LRN4|E9LRN5|E9LRP8|E9LRQ0|E9LRQ2|E9LRQ3|E9LRQ4|E9LRQ5|E9LRS3|Q2VIK6|Q9BZV7|Q9BZV9	Missense_Mutation	SNP	ENST00000465342.2	37	c.505C>A	CCDS55274.1	.	.	.	.	.	.	.	.	.	.	C	14.63	2.592185	0.46214	.	.	ENSG00000212993	ENST00000465342;ENST00000391675	D;D	0.83837	-1.77;-1.77	1.14	0.2	0.15181	POU-specific (3);Lambda repressor-like, DNA-binding (2);POU (1);	0.000000	0.38005	N	0.001856	T	0.70649	0.3248	N	0.20483	0.58	0.47308	D	0.999382	B	0.18610	0.029	B	0.36030	0.216	T	0.55623	-0.8112	10	0.37606	T	0.19	.	5.4549	0.16584	0.0:0.7834:0.0:0.2166	.	169	Q06416	P5F1B_HUMAN	I	169	ENSP00000419298:L169I;ENSP00000375557:L169I	ENSP00000375557:L169I	L	+	1	0	POU5F1B	128497798	0.995000	0.38212	0.998000	0.56505	0.693000	0.40251	0.496000	0.22499	0.077000	0.16863	0.134000	0.15878	CTC		0.527	POU5F1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349649.2	NM_001159542		4	10	1	0	0.00909568	1	0.00918626	4	10					A	128428616	C	A	128428616	3	1	435	1	0	0	0	0	1	0	0	0	12282	797	28	5	507	5	POU5F1B	8	128428616	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	2265177	128428616	17935406	4136	25061											
ASAP1	50807	broad.mit.edu	37	chr8	131092213	131092213	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaagaggatggacccccatcGttacctacaaggaaaaccga	15	5	10	11	2	0	1	0	0	0	1	1	6	0	4	4	3	3	1	4	3	6	2	rs370789875		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:131092213G>A	ENST00000518721.1	-	26	2804	c.2577C>T	c.(2575-2577)aaC>aaT	p.N859N	ASAP1_ENST00000357668.1_Silent_p.N859N	NM_001247996.1|NM_018482.3	NP_001234925.1|NP_060952.2	Q9ULH1	ASAP1_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 1	859	Pro-rich.				cilium morphogenesis (GO:0060271)|regulation of ARF GTPase activity (GO:0032312)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|zinc ion binding (GO:0008270)			breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(22)|ovary(6)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	68						GACCCCCATCGTTACCTACAA	0.468																																						ENST00000357668.1																			0				breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(22)|ovary(6)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	68						c.(2575-2577)aaC>aaT		ArfGAP with SH3 domain, ankyrin repeat and PH domain 1		G		0,4406		0,0,2203	167	154	158		2577	-0.6	1	8		158	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	ASAP1	NM_018482.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		859/1130	131092213	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	50807				cilium morphogenesis|filopodium assembly|regulation of ARF GTPase activity|signal transduction	cytoplasm|membrane	ARF GTPase activator activity|cytoskeletal adaptor activity|SH3 domain binding|zinc ion binding	g.chr8:131092213G>A	AB033075	CCDS6362.1, CCDS75788.1	8q24.1-q24.2	2013-01-11	2008-09-22	2008-09-22	ENSG00000153317	ENSG00000153317		"ADP-ribosylation factor GTPase activating proteins", "Pleckstrin homology (PH) domain containing", "Ankyrin repeat domain containing"	2720	protein-coding gene	gene with protein product	"centaurin, beta 4"	605953	"development and differentiation enhancing factor 1"	DDEF1		9819391	Standard	NM_018482		Approved	PAP, KIAA1249, ZG14P, CENTB4	uc003yta.2	Q9ULH1	OTTHUMG00000164772	ENST00000518721.1:c.2577C>T	8.37:g.131092213G>A						ASAP1_ENST00000518721.1_Silent_p.N859N	p.N859N			Q9ULH1	ASAP1_HUMAN			25	2604	-			859			Pro-rich.		B2RNV3	Silent	SNP	ENST00000518721.1	37	c.2577C>T	CCDS6362.1	.	.	.	.	.	.	.	.	.	.	G	9.336	1.061676	0.19987	0.0	1.16E-4	ENSG00000153317	ENST00000524124;ENST00000519483	.	.	.	5.49	-0.627	0.11541	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.1418	0.36908	0.5407:0.0:0.4593:0.0	.	.	.	.	X	680;216	.	.	R	-	1	2	ASAP1	131161395	0.871000	0.30034	0.998000	0.56505	0.966000	0.64601	-0.311000	0.08124	0.030000	0.15379	-0.136000	0.14681	CGA		0.468	ASAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380170.1	NM_018482		39	64	0	0	0	1	0	39	64					A	131092213	G	A	131092213	2	1	435	1	0	0	0	0	0	0	0	1	1010	1136	40	1		1	ASAP1	8	131092213	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	2663597	131092213	15271809	4137	25062											
ASAP1	50807	broad.mit.edu	37	chr8	131136321	131136321	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tttgcttccataatatcattAaaactattgtttcctacatt	12	19	2	8	0	1	0	1	0	0	0	3	0	3	0	2	0	3	2	2	0	6	10			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:131136321A>G	ENST00000518721.1	-	18	1772	c.1545T>C	c.(1543-1545)ttT>ttC	p.F515F	ASAP1_ENST00000357668.1_Silent_p.F515F	NM_001247996.1|NM_018482.3	NP_001234925.1|NP_060952.2	Q9ULH1	ASAP1_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 1	515	Arf-GAP. {ECO:0000255|PROSITE- ProRule:PRU00288}.				cilium morphogenesis (GO:0060271)|regulation of ARF GTPase activity (GO:0032312)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|zinc ion binding (GO:0008270)			breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(22)|ovary(6)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	68						TAATATCATTAAAACTATTGT	0.328																																						ENST00000357668.1																			0				breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(22)|ovary(6)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	68						c.(1543-1545)ttT>ttC		ArfGAP with SH3 domain, ankyrin repeat and PH domain 1							98	110	106					8																	131136321		2203	4300	6503	SO:0001819	synonymous_variant	50807				cilium morphogenesis|filopodium assembly|regulation of ARF GTPase activity|signal transduction	cytoplasm|membrane	ARF GTPase activator activity|cytoskeletal adaptor activity|SH3 domain binding|zinc ion binding	g.chr8:131136321A>G	AB033075	CCDS6362.1, CCDS75788.1	8q24.1-q24.2	2013-01-11	2008-09-22	2008-09-22	ENSG00000153317	ENSG00000153317		"ADP-ribosylation factor GTPase activating proteins", "Pleckstrin homology (PH) domain containing", "Ankyrin repeat domain containing"	2720	protein-coding gene	gene with protein product	"centaurin, beta 4"	605953	"development and differentiation enhancing factor 1"	DDEF1		9819391	Standard	NM_018482		Approved	PAP, KIAA1249, ZG14P, CENTB4	uc003yta.2	Q9ULH1	OTTHUMG00000164772	ENST00000518721.1:c.1545T>C	8.37:g.131136321A>G						ASAP1_ENST00000518721.1_Silent_p.F515F	p.F515F			Q9ULH1	ASAP1_HUMAN			17	1572	-			515			Arf-GAP.		B2RNV3	Silent	SNP	ENST00000518721.1	37	c.1545T>C	CCDS6362.1	.	.	.	.	.	.	.	.	.	.	A	10.37	1.330734	0.24167	.	.	ENSG00000153317	ENST00000524124	.	.	.	5.95	4.8	0.61643	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.5306	0.33333	0.8529:0.0:0.1471:0.0	.	.	.	.	Q	336	.	.	X	-	1	0	ASAP1	131205503	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.145000	0.58065	1.078000	0.41014	0.533000	0.62120	TAA		0.328	ASAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380170.1	NM_018482		13	27	0	0	0	1	0	13	27					G	131136321	A	G	131136321	2	3	435	1	0	0	0	0	0	0	0	1	1010	359	13	4		4	ASAP1	8	131136321	Silent	SNP	A	TCGA-XK-AAIW-01A-11D-A41K-08	44108	131136321	15227701	4138	25063											
ASAP1	50807	broad.mit.edu	37	chr8	131140295	131140295	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gctctccacggaaggccatgGttagggcctcttctttgcta	6	12	11	12	1	3	0	0	0	3	0	4	1	3	1	3	4	1	3	3	4	3	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:131140295G>A	ENST00000518721.1	-	16	1486	c.1259C>T	c.(1258-1260)aCc>aTc	p.T420I	ASAP1_ENST00000357668.1_Missense_Mutation_p.T420I	NM_001247996.1|NM_018482.3	NP_001234925.1|NP_060952.2	Q9ULH1	ASAP1_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 1	420					cilium morphogenesis (GO:0060271)|regulation of ARF GTPase activity (GO:0032312)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|zinc ion binding (GO:0008270)			breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(22)|ovary(6)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	68						GAAGGCCATGGTTAGGGCCTC	0.433																																						ENST00000357668.1																			0				breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(22)|ovary(6)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	68						c.(1258-1260)aCc>aTc		ArfGAP with SH3 domain, ankyrin repeat and PH domain 1							94	87	89					8																	131140295		2203	4300	6503	SO:0001583	missense	50807				cilium morphogenesis|filopodium assembly|regulation of ARF GTPase activity|signal transduction	cytoplasm|membrane	ARF GTPase activator activity|cytoskeletal adaptor activity|SH3 domain binding|zinc ion binding	g.chr8:131140295G>A	AB033075	CCDS6362.1, CCDS75788.1	8q24.1-q24.2	2013-01-11	2008-09-22	2008-09-22	ENSG00000153317	ENSG00000153317		"ADP-ribosylation factor GTPase activating proteins", "Pleckstrin homology (PH) domain containing", "Ankyrin repeat domain containing"	2720	protein-coding gene	gene with protein product	"centaurin, beta 4"	605953	"development and differentiation enhancing factor 1"	DDEF1		9819391	Standard	NM_018482		Approved	PAP, KIAA1249, ZG14P, CENTB4	uc003yta.2	Q9ULH1	OTTHUMG00000164772	ENST00000518721.1:c.1259C>T	8.37:g.131140295G>A	ENSP00000429900:p.Thr420Ile					ASAP1_ENST00000518721.1_Missense_Mutation_p.T420I	p.T420I			Q9ULH1	ASAP1_HUMAN			15	1286	-			420					B2RNV3	Missense_Mutation	SNP	ENST00000518721.1	37	c.1259C>T	CCDS6362.1	.	.	.	.	.	.	.	.	.	.	G	17.46	3.396047	0.62177	.	.	ENSG00000153317	ENST00000343135;ENST00000357668;ENST00000518721	T;T	0.06142	3.34;3.34	5.99	5.99	0.97316	Pleckstrin homology-type (1);	0.347798	0.32002	N	0.006727	T	0.09202	0.0227	L	0.38175	1.15	0.45806	D	0.998687	B;B;B	0.22276	0.04;0.04;0.067	B;B;B	0.35655	0.051;0.051;0.207	T	0.16424	-1.0403	10	0.51188	T	0.08	.	12.9593	0.58449	0.0:0.0:0.7475:0.2525	.	420;420;423	B2RNV3;Q9ULH1;Q9ULH1-2	.;ASAP1_HUMAN;.	I	423;420;420	ENSP00000350297:T420I;ENSP00000429900:T420I	ENSP00000344591:T423I	T	-	2	0	ASAP1	131209477	1.000000	0.71417	0.996000	0.52242	0.997000	0.91878	5.465000	0.66725	2.847000	0.97988	0.655000	0.94253	ACC		0.433	ASAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380170.1	NM_018482		19	25	0	0	0	1	0	19	25					A	131140295	G	A	131140295	3	1	435	1	0	0	0	0	1	0	0	0	1010	1261	44	3	2190	3	ASAP1	8	131140295	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	3974	131140295	15223727	4139	25064											
ADCY8	114	broad.mit.edu	37	chr8	131916040	131916040	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgtttccccacgatattaTcaaagggcagttcagggctc	9	12	9	11	1	3	0	2	0	1	0	5	1	4	0	2	2	0	4	2	2	3	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:131916040T>C	ENST00000286355.5	-	7	3981	c.1889A>G	c.(1888-1890)gAt>gGt	p.D630G	ADCY8_ENST00000377928.3_Missense_Mutation_p.D630G	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	630					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|learning or memory (GO:0007611)|long-term memory (GO:0007616)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			CACGATATTATCAAAGGGCAG	0.502										HNSCC(32;0.087)																												ENST00000286355.5																			0				NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						c.(1888-1890)gAt>gGt		adenylate cyclase 8 (brain)							108	95	100					8																	131916040		2203	4300	6503	SO:0001583	missense	114				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding	g.chr8:131916040T>C	Z35309	CCDS6363.1	8q24	2013-02-04			ENSG00000155897	ENSG00000155897	4.6.1.1	"Adenylate cyclases"	239	protein-coding gene	gene with protein product		103070		ADCY3		8076676	Standard	NM_001115		Approved	HBAC1, AC8	uc003ytd.4	P40145	OTTHUMG00000164756	ENST00000286355.5:c.1889A>G	8.37:g.131916040T>C	ENSP00000286355:p.Asp630Gly	HNSCC(32;0.087)				ADCY8_ENST00000377928.3_Missense_Mutation_p.D630G	p.D630G	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000538)		7	3981	-	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		630						Missense_Mutation	SNP	ENST00000286355.5	37	c.1889A>G	CCDS6363.1	.	.	.	.	.	.	.	.	.	.	T	14.70	2.612750	0.46631	.	.	ENSG00000155897	ENST00000286355;ENST00000377928;ENST00000522949	T;T;T	0.80033	-1.03;-1.03;-1.33	6.08	6.08	0.98989	.	0.163770	0.56097	D	0.000021	T	0.72087	0.3417	N	0.08118	0	0.47659	D	0.999487	P;B	0.41784	0.762;0.005	P;B	0.47864	0.559;0.015	T	0.72903	-0.4151	10	0.27082	T	0.32	.	15.8323	0.78764	0.0:0.0:0.0:1.0	.	630;630	E7EVL1;P40145	.;ADCY8_HUMAN	G	630;630;245	ENSP00000286355:D630G;ENSP00000367161:D630G;ENSP00000428010:D245G	ENSP00000286355:D630G	D	-	2	0	ADCY8	131985222	1.000000	0.71417	1.000000	0.80357	0.684000	0.39900	5.596000	0.67570	2.333000	0.79357	0.482000	0.46254	GAT		0.502	ADCY8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380080.1			10	22	0	0	0	1	0	10	22					C	131916040	T	C	131916040	3	2	435	1	0	0	0	0	1	0	0	0	300	1435	50	4	1914	4	ADCY8	8	131916040	Missense_Mutation	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	775745	131916040	14447982	4140	25065											
ADCY8	114	broad.mit.edu	37	chr8	132051856	132051856	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaccacgccgctgtactgcaGgtacgtgtgggaggtggtgt	6	9	17	9	3	0	0	0	0	0	0	0	2	0	1	2	4	3	4	2	4	2	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:132051856G>T	ENST00000286355.5	-	1	2816	c.724C>A	c.(724-726)Ctg>Atg	p.L242M	ADCY8_ENST00000377928.3_Missense_Mutation_p.L242M	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	242					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|learning or memory (GO:0007611)|long-term memory (GO:0007616)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			CTGTACTGCAGGTACGTGTGG	0.647										HNSCC(32;0.087)																												ENST00000286355.5																			0				NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						c.(724-726)Ctg>Atg		adenylate cyclase 8 (brain)							57	50	52					8																	132051856		2203	4300	6503	SO:0001583	missense	114				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding	g.chr8:132051856G>T	Z35309	CCDS6363.1	8q24	2013-02-04			ENSG00000155897	ENSG00000155897	4.6.1.1	"Adenylate cyclases"	239	protein-coding gene	gene with protein product		103070		ADCY3		8076676	Standard	NM_001115		Approved	HBAC1, AC8	uc003ytd.4	P40145	OTTHUMG00000164756	ENST00000286355.5:c.724C>A	8.37:g.132051856G>T	ENSP00000286355:p.Leu242Met	HNSCC(32;0.087)				ADCY8_ENST00000377928.3_Missense_Mutation_p.L242M	p.L242M	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000538)		1	2816	-	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		242						Missense_Mutation	SNP	ENST00000286355.5	37	c.724C>A	CCDS6363.1	.	.	.	.	.	.	.	.	.	.	G	14.66	2.601083	0.46423	.	.	ENSG00000155897	ENST00000286355;ENST00000377928	T;T	0.48836	0.8;0.8	5.46	4.58	0.56647	.	0.000000	0.64402	D	0.000008	T	0.61426	0.2346	L	0.52573	1.65	0.41166	D	0.986131	D;D	0.71674	0.998;0.998	D;D	0.77557	0.99;0.99	T	0.62632	-0.6813	10	0.49607	T	0.09	.	13.161	0.59544	0.0768:0.0:0.9232:0.0	.	242;242	E7EVL1;P40145	.;ADCY8_HUMAN	M	242	ENSP00000286355:L242M;ENSP00000367161:L242M	ENSP00000286355:L242M	L	-	1	2	ADCY8	132121038	1.000000	0.71417	0.999000	0.59377	0.940000	0.58332	3.876000	0.56115	1.318000	0.45170	0.455000	0.32223	CTG		0.647	ADCY8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380080.1			5	17	1	0	1	1	1	5	17					T	132051856	G	T	132051856	3	4	435	1	0	0	0	0	1	0	0	0	300	991	35	5	3103	5	ADCY8	8	132051856	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	135816	132051856	14312166	4141	25066											
EFR3A	23167	broad.mit.edu	37	chr8	132962330	132962330	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtcatagtgatccagaaataCgaacagagtatgtattattt	15	13	8	5	1	1	3	1	1	0	2	2	4	2	3	1	0	2	2	1	0	7	6			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:132962330C>T	ENST00000254624.5	+	5	706	c.481C>T	c.(481-483)Cga>Tga	p.R161*	EFR3A_ENST00000334503.4_Nonsense_Mutation_p.R161*|EFR3A_ENST00000519656.1_Nonsense_Mutation_p.R125*	NM_015137.4	NP_055952.2	Q14156	EFR3A_HUMAN	EFR3 homolog A (S. cerevisiae)	161						extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|skin(1)|stomach(2)	35	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000805)|LUAD - Lung adenocarcinoma(14;0.102)			TCCAGAAATACGAACAGAGTA	0.318																																						ENST00000254624.5																			0				breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|skin(1)|stomach(2)	35						c.(481-483)Cga>Tga		EFR3 homolog A (S. cerevisiae)							91	77	82					8																	132962330		2202	4300	6502	SO:0001587	stop_gained	23167					plasma membrane	binding	g.chr8:132962330C>T	D63477	CCDS34942.2	8q24.22	2008-10-23			ENSG00000132294	ENSG00000132294			28970	protein-coding gene	gene with protein product		611798				15363888	Standard	NM_015137		Approved	KIAA0143	uc003yte.3	Q14156	OTTHUMG00000150552	ENST00000254624.5:c.481C>T	8.37:g.132962330C>T	ENSP00000254624:p.Arg161*					EFR3A_ENST00000334503.4_Nonsense_Mutation_p.R161*|EFR3A_ENST00000519656.1_Nonsense_Mutation_p.R125*	p.R161*	NM_015137.4	NP_055952.2	Q14156	EFR3A_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000805)|LUAD - Lung adenocarcinoma(14;0.102)		5	706	+	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		161					A7MD19|Q2VPK2|Q63HL7|Q68DX1|Q6IQ18	Nonsense_Mutation	SNP	ENST00000254624.5	37	c.481C>T	CCDS34942.2	.	.	.	.	.	.	.	.	.	.	C	38	7.214874	0.98139	.	.	ENSG00000132294	ENST00000254624;ENST00000522709;ENST00000377917;ENST00000334503;ENST00000519656	.	.	.	5.7	4.8	0.61643	.	0.270692	0.35466	N	0.003192	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-5.532	14.8922	0.70617	0.1444:0.8556:0.0:0.0	.	.	.	.	X	161;125;161;161;125	.	ENSP00000254624:R161X	R	+	1	2	EFR3A	133031512	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	1.382000	0.34374	1.336000	0.45506	0.557000	0.71058	CGA		0.318	EFR3A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318886.1	NM_015137		3	11	0	0	0	1	0	3	11					T	132962330	C	T	132962330	4	4	435	1	0	0	0	0	0	1	0	0	4958	528	19	1	499	1	EFR3A	8	132962330	Nonsense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	910474	132962330	13401692	4142	25067											
EFR3A	23167	broad.mit.edu	37	chr8	132991264	132991264	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agggcaaagcttcgagggatCaggtaatgtgccattttgaa	12	10	13	6	1	1	1	1	1	0	0	2	3	1	2	1	3	2	3	1	3	3	4	rs141932899		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:132991264C>T	ENST00000254624.5	+	13	1722	c.1497C>T	c.(1495-1497)atC>atT	p.I499I	EFR3A_ENST00000334503.4_Silent_p.I499I|EFR3A_ENST00000519656.1_Silent_p.I463I	NM_015137.4	NP_055952.2	Q14156	EFR3A_HUMAN	EFR3 homolog A (S. cerevisiae)	499						extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|skin(1)|stomach(2)	35	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000805)|LUAD - Lung adenocarcinoma(14;0.102)			TTCGAGGGATCAGGTAATGTG	0.358													C|||	1	0.000199681	8e-04	0	5008	,	,		18128	0		0	False		,,,				2504	0					ENST00000254624.5																			0				breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|skin(1)|stomach(2)	35						c.(1495-1497)atC>atT		EFR3 homolog A (S. cerevisiae)		C		1,4405	2.1+/-5.4	0,1,2202	144	138	140		1497	5.7	1	8	dbSNP_134	140	0,8598		0,0,4299	no	coding-synonymous	EFR3A	NM_015137.4		0,1,6501	TT,TC,CC		0.0,0.0227,0.0077		499/822	132991264	1,13003	2203	4299	6502	SO:0001819	synonymous_variant	23167					plasma membrane	binding	g.chr8:132991264C>T	D63477	CCDS34942.2	8q24.22	2008-10-23			ENSG00000132294	ENSG00000132294			28970	protein-coding gene	gene with protein product		611798				15363888	Standard	NM_015137		Approved	KIAA0143	uc003yte.3	Q14156	OTTHUMG00000150552	ENST00000254624.5:c.1497C>T	8.37:g.132991264C>T						EFR3A_ENST00000334503.4_Silent_p.I499I|EFR3A_ENST00000519656.1_Silent_p.I463I	p.I499I	NM_015137.4	NP_055952.2	Q14156	EFR3A_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000805)|LUAD - Lung adenocarcinoma(14;0.102)		13	1722	+	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		499					A7MD19|Q2VPK2|Q63HL7|Q68DX1|Q6IQ18	Silent	SNP	ENST00000254624.5	37	c.1497C>T	CCDS34942.2																																																																																				0.358	EFR3A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318886.1	NM_015137		19	29	0	0	0	1	0	19	29					T	132991264	C	T	132991264	2	4	435	1	0	0	0	0	0	0	0	1	4958	816	29	3		3	EFR3A	8	132991264	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	28934	132991264	13372758	4143	25068											
KCNQ3	3786	broad.mit.edu	37	chr8	133150184	133150184	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtcgagatgcccggcagaatActgctcaatcacatccttca	11	9	8	13	2	3	2	3	0	0	2	5	3	4	2	2	1	3	2	2	1	3	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:133150184A>G	ENST00000388996.4	-	12	2068	c.1648T>C	c.(1648-1650)Tat>Cat	p.Y550H	KCNQ3_ENST00000521134.1_Missense_Mutation_p.Y430H|KCNQ3_ENST00000519445.1_Missense_Mutation_p.Y550H	NM_004519.3	NP_004510.1	O43525	KCNQ3_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 3	550					axon guidance (GO:0007411)|membrane hyperpolarization (GO:0060081)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	axon initial segment (GO:0043194)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	70	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)		Amitriptyline(DB00321)|Diclofenac(DB00586)|Ezogabine(DB04953)|Meclofenamic acid(DB00939)	CCGGCAGAATACTGCTCAATC	0.468																																						ENST00000388996.4																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	70						c.(1648-1650)Tat>Cat		potassium voltage-gated channel, KQT-like subfamily, member 3							159	144	149					8																	133150184		2203	4300	6503	SO:0001583	missense	3786				axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr8:133150184A>G	AB208890	CCDS34943.1, CCDS56554.1	8q24	2012-07-05			ENSG00000184156	ENSG00000184156		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6297	protein-coding gene	gene with protein product		602232		EBN2		9425900, 16382104	Standard	NM_004519		Approved	Kv7.3	uc003ytj.3	O43525	OTTHUMG00000137472	ENST00000388996.4:c.1648T>C	8.37:g.133150184A>G	ENSP00000373648:p.Tyr550His					KCNQ3_ENST00000519445.1_Missense_Mutation_p.Y550H|KCNQ3_ENST00000521134.1_Missense_Mutation_p.Y430H	p.Y550H	NM_004519.3	NP_004510.1	O43525	KCNQ3_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000311)		12	2068	-	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		550					A2VCT8|B4DJY4|E7EQ89	Missense_Mutation	SNP	ENST00000388996.4	37	c.1648T>C	CCDS34943.1	.	.	.	.	.	.	.	.	.	.	A	23.8	4.453336	0.84209	.	.	ENSG00000184156	ENST00000388996;ENST00000521134;ENST00000519445;ENST00000542679;ENST00000423790	D;D;D	0.99885	-7.51;-7.51;-7.51	5.46	5.46	0.80206	Potassium channel, voltage dependent, KCNQ, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.99876	0.9941	M	0.82193	2.58	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.96093	0.9063	10	0.87932	D	0	-10.5331	15.0416	0.71796	1.0:0.0:0.0:0.0	.	550;550	E7ET42;O43525	.;KCNQ3_HUMAN	H	550;430;550;539;429	ENSP00000373648:Y550H;ENSP00000429799:Y430H;ENSP00000428790:Y550H	ENSP00000373648:Y550H	Y	-	1	0	KCNQ3	133219366	1.000000	0.71417	1.000000	0.80357	0.928000	0.56348	9.339000	0.96797	2.207000	0.71202	0.533000	0.62120	TAT		0.468	KCNQ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268621.2	NM_004519		52	77	0	0	0	1	0	52	77					G	133150184	A	G	133150184	3	3	435	1	0	0	0	0	1	0	0	0	8084	391	14	4	986	4	KCNQ3	8	133150184	Missense_Mutation	SNP	A	TCGA-XK-AAIW-01A-11D-A41K-08	158920	133150184	13213838	4144	25069											
TG	7038	broad.mit.edu	37	chr8	133920513	133920513	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aagatgtgcagtgctgactaCgcggatttgctgcagacttt	9	12	12	8	2	0	3	0	1	0	2	0	4	0	4	0	1	5	4	0	1	2	3	rs143023529		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:133920513C>T	ENST00000220616.4	+	18	3970	c.3930C>T	c.(3928-3930)taC>taT	p.Y1310Y	TG_ENST00000377869.1_Silent_p.Y1310Y	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	1310					hormone biosynthetic process (GO:0042446)|iodide transport (GO:0015705)|regulation of myelination (GO:0031641)|signal transduction (GO:0007165)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular region (GO:0005576)|extracellular space (GO:0005615)				NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		GTGCTGACTACGCGGATTTGC	0.597																																						ENST00000220616.4																			0				NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168						c.(3928-3930)taC>taT		thyroglobulin		T		1,4405	2.1+/-5.4	0,1,2202	76	69	71		3930	2.7	0.1	8	dbSNP_134	71	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	TG	NM_003235.4		0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154		1310/2769	133920513	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	7038				hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity	g.chr8:133920513C>T	AU141420	CCDS34944.1	8q24	2012-10-02			ENSG00000042832	ENSG00000042832			11764	protein-coding gene	gene with protein product		188450					Standard	NM_003235		Approved	TGN, AITD3	uc003ytw.3	P01266	OTTHUMG00000164649	ENST00000220616.4:c.3930C>T	8.37:g.133920513C>T						TG_ENST00000377869.1_Silent_p.Y1310Y	p.Y1310Y	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)	18	3970	+	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	1310					O15274|O43899|Q15593|Q15948|Q9NYR1|Q9NYR2|Q9UMZ0|Q9UNY3	Silent	SNP	ENST00000220616.4	37	c.3930C>T	CCDS34944.1																																																																																				0.597	TG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379606.1	NM_003235		20	37	0	0	0	1	0	20	37					T	133920513	C	T	133920513	2	4	435	1	0	0	0	0	0	0	0	1	15810	547	19	1		1	TG	8	133920513	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	770329	133920513	12443509	4145	25070											
NDRG1	10397	broad.mit.edu	37	chr8	134276793	134276793	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agctcctcagaacttacggtTcatgccgatgtcatggtagg	9	11	11	10	2	3	1	3	0	0	1	4	2	4	1	2	3	4	3	2	3	3	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:134276793T>C	ENST00000414097.2	-	4	1069	c.202A>G	c.(202-204)Aac>Gac	p.N68D	NDRG1_ENST00000537882.1_Intron|NDRG1_ENST00000354944.5_Missense_Mutation_p.N68D|NDRG1_ENST00000323851.7_Missense_Mutation_p.N68D|NDRG1_ENST00000522476.1_Missense_Mutation_p.N2D|NDRG1_ENST00000518066.1_Intron|NDRG1_ENST00000518176.1_Intron	NM_001135242.1	NP_001128714.1	Q92597	NDRG1_HUMAN	N-myc downstream regulated 1	68					cell death (GO:0008219)|cellular response to hypoxia (GO:0071456)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|mast cell activation (GO:0045576)|peripheral nervous system myelin maintenance (GO:0032287)|positive regulation of spindle checkpoint (GO:0090232)|response to metal ion (GO:0010038)	cell-cell adherens junction (GO:0005913)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|recycling endosome membrane (GO:0055038)	cadherin binding (GO:0045296)|gamma-tubulin binding (GO:0043015)|microtubule binding (GO:0008017)|Rab GTPase binding (GO:0017137)		NDRG1/ERG(5)	endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|ovary(4)|prostate(1)|skin(1)	17	all_epithelial(106;4.26e-24)|Lung NSC(106;7.26e-07)|all_lung(105;2.77e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0107)			AACTTACGGTTCATGCCGATG	0.572			T	ERG	prostate																																	ENST00000414097.2				Dom	yes		8	8q24.3	10397	T	N-myc downstream regulated 1			E	ERG		prostate	NDRG1/ERG(5)	0				endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|ovary(4)|prostate(1)|skin(1)	17						c.(202-204)Aac>Gac		N-myc downstream regulated 1							145	122	130					8																	134276793		2203	4300	6503	SO:0001583	missense	10397				cellular response to hypoxia|response to metal ion	cytoplasm|microtubule cytoskeleton|nucleus|plasma membrane	protein binding	g.chr8:134276793T>C	X92845	CCDS34945.1, CCDS59112.1, CCDS59113.1	8q24	2014-09-17	2008-09-12		ENSG00000104419	ENSG00000104419			7679	protein-coding gene	gene with protein product		605262		CAP43		9251681, 8939898, 18455888	Standard	NM_006096		Approved	DRG1, RTP, TDD5, NDR1	uc003yue.2	Q92597	OTTHUMG00000164441	ENST00000414097.2:c.202A>G	8.37:g.134276793T>C	ENSP00000404854:p.Asn68Asp					NDRG1_ENST00000518066.1_Intron|NDRG1_ENST00000518176.1_Intron|NDRG1_ENST00000522476.1_Missense_Mutation_p.N2D|NDRG1_ENST00000323851.7_Missense_Mutation_p.N68D|NDRG1_ENST00000537882.1_Intron|NDRG1_ENST00000354944.5_Missense_Mutation_p.N68D	p.N68D	NM_001135242.1	NP_001128714.1	Q92597	NDRG1_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0107)		4	1069	-	all_epithelial(106;4.26e-24)|Lung NSC(106;7.26e-07)|all_lung(105;2.77e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)		68					B3KR80|B7Z446|O15207|Q6IBG2|Q9NYR6|Q9UK29	Missense_Mutation	SNP	ENST00000414097.2	37	c.202A>G	CCDS34945.1	.	.	.	.	.	.	.	.	.	.	T	27.5	4.841133	0.91197	.	.	ENSG00000104419	ENST00000323851;ENST00000354944;ENST00000414097;ENST00000522476;ENST00000520230;ENST00000518480;ENST00000519228;ENST00000519580;ENST00000522890;ENST00000520943;ENST00000521544;ENST00000522738;ENST00000523892	T;T;T;T;T;T;T;T;T;T;T;T;T	0.23754	1.89;1.89;1.89;1.89;1.89;1.89;1.89;1.89;1.89;1.89;1.89;1.89;1.89	5.56	5.56	0.83823	.	0.000000	0.85682	D	0.000000	T	0.51432	0.1674	M	0.76170	2.325	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.53823	-0.8384	10	0.56958	D	0.05	.	14.5418	0.67999	0.0:0.0:0.0:1.0	.	68	Q92597	NDRG1_HUMAN	D	68;68;68;2;85;2;68;68;68;79;68;122;2	ENSP00000319977:N68D;ENSP00000347028:N68D;ENSP00000404854:N68D;ENSP00000427894:N2D;ENSP00000428345:N85D;ENSP00000428802:N2D;ENSP00000429994:N68D;ENSP00000429272:N68D;ENSP00000428384:N68D;ENSP00000429840:N79D;ENSP00000429524:N68D;ENSP00000428991:N122D;ENSP00000430171:N2D	ENSP00000319977:N68D	N	-	1	0	NDRG1	134345975	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.389000	0.79806	2.119000	0.64992	0.459000	0.35465	AAC		0.572	NDRG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378805.1			16	30	0	0	0	1	0	16	30					C	134276793	T	C	134276793	3	2	435	1	0	0	0	0	1	0	0	0	10251	1783	62	4	1034	4	NDRG1	8	134276793	Missense_Mutation	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	356280	134276793	12087229	4146	25071											
NDRG1	10397	broad.mit.edu	37	chr8	134292492	134292492	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgcctggacatcaaactcttGcaggaggccggtgatggtct	8	10	13	10	1	3	1	1	1	2	0	3	3	3	3	2	5	3	1	2	5	1	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:134292492G>A	ENST00000414097.2	-	3	949	c.82C>T	c.(82-84)Caa>Taa	p.Q28*	NDRG1_ENST00000537882.1_5'UTR|NDRG1_ENST00000354944.5_Nonsense_Mutation_p.Q28*|NDRG1_ENST00000323851.7_Nonsense_Mutation_p.Q28*|NDRG1_ENST00000522476.1_Intron|NDRG1_ENST00000518066.1_Intron|NDRG1_ENST00000518176.1_Intron	NM_001135242.1	NP_001128714.1	Q92597	NDRG1_HUMAN	N-myc downstream regulated 1	28					cell death (GO:0008219)|cellular response to hypoxia (GO:0071456)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|mast cell activation (GO:0045576)|peripheral nervous system myelin maintenance (GO:0032287)|positive regulation of spindle checkpoint (GO:0090232)|response to metal ion (GO:0010038)	cell-cell adherens junction (GO:0005913)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|recycling endosome membrane (GO:0055038)	cadherin binding (GO:0045296)|gamma-tubulin binding (GO:0043015)|microtubule binding (GO:0008017)|Rab GTPase binding (GO:0017137)		NDRG1/ERG(5)	endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|ovary(4)|prostate(1)|skin(1)	17	all_epithelial(106;4.26e-24)|Lung NSC(106;7.26e-07)|all_lung(105;2.77e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0107)			TCAAACTCTTGCAGGAGGCCG	0.403			T	ERG	prostate																																	ENST00000414097.2				Dom	yes		8	8q24.3	10397	T	N-myc downstream regulated 1			E	ERG		prostate	NDRG1/ERG(5)	0				endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|ovary(4)|prostate(1)|skin(1)	17						c.(82-84)Caa>Taa		N-myc downstream regulated 1							120	100	107					8																	134292492		2203	4300	6503	SO:0001587	stop_gained	10397				cellular response to hypoxia|response to metal ion	cytoplasm|microtubule cytoskeleton|nucleus|plasma membrane	protein binding	g.chr8:134292492G>A	X92845	CCDS34945.1, CCDS59112.1, CCDS59113.1	8q24	2014-09-17	2008-09-12		ENSG00000104419	ENSG00000104419			7679	protein-coding gene	gene with protein product		605262		CAP43		9251681, 8939898, 18455888	Standard	NM_006096		Approved	DRG1, RTP, TDD5, NDR1	uc003yue.2	Q92597	OTTHUMG00000164441	ENST00000414097.2:c.82C>T	8.37:g.134292492G>A	ENSP00000404854:p.Gln28*					NDRG1_ENST00000518066.1_Intron|NDRG1_ENST00000518176.1_Intron|NDRG1_ENST00000522476.1_Intron|NDRG1_ENST00000323851.7_Nonsense_Mutation_p.Q28*|NDRG1_ENST00000537882.1_5'UTR|NDRG1_ENST00000354944.5_Nonsense_Mutation_p.Q28*	p.Q28*	NM_001135242.1	NP_001128714.1	Q92597	NDRG1_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0107)		3	949	-	all_epithelial(106;4.26e-24)|Lung NSC(106;7.26e-07)|all_lung(105;2.77e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)		28					B3KR80|B7Z446|O15207|Q6IBG2|Q9NYR6|Q9UK29	Nonsense_Mutation	SNP	ENST00000414097.2	37	c.82C>T	CCDS34945.1	.	.	.	.	.	.	.	.	.	.	G	43	10.321424	0.99382	.	.	ENSG00000104419	ENST00000323851;ENST00000537144;ENST00000354944;ENST00000414097;ENST00000520230;ENST00000519228;ENST00000519580;ENST00000522890;ENST00000520943;ENST00000521544;ENST00000522738	.	.	.	5.22	5.22	0.72569	.	0.420509	0.27249	N	0.020239	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.25751	T	0.34	-5.557	14.134	0.65273	0.0:0.0:1.0:0.0	.	.	.	.	X	28;28;28;28;45;28;28;28;39;28;82	.	ENSP00000319977:Q28X	Q	-	1	0	NDRG1	134361674	1.000000	0.71417	0.961000	0.40146	0.533000	0.34776	4.745000	0.62125	2.721000	0.93114	0.491000	0.48974	CAA		0.403	NDRG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378805.1			7	38	0	0	0	1	0	7	38					A	134292492	G	A	134292492	4	1	435	1	0	0	0	0	0	1	0	0	10251	1328	46	3	1158	3	NDRG1	8	134292492	Nonsense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	15699	134292492	12071530	4147	25072											
ZFAT	57623	broad.mit.edu	37	chr8	135521921	135521921	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caccgaggcaagggcagtggCgtcatgggtctcggcgccca	7	5	16	13	4	2	0	1	0	1	0	3	1	2	0	2	5	0	2	2	5	1	0	rs377173690		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:135521921C>T	ENST00000377838.3	-	15	3607	c.3433G>A	c.(3433-3435)Gcc>Acc	p.A1145T	ZFAT_ENST00000520727.1_Missense_Mutation_p.A1133T|ZFAT_ENST00000517307.1_5'Flank|ZFAT_ENST00000429442.2_Intron|ZFAT_ENST00000523399.1_Missense_Mutation_p.A1083T|ZFAT_ENST00000520214.1_Missense_Mutation_p.A1133T|ZFAT_ENST00000520356.1_Intron	NM_001174157.1|NM_020863.3	NP_001167628.1|NP_065914.2	Q9P243	ZFAT_HUMAN	zinc finger and AT hook domain containing	1145					hematopoietic progenitor cell differentiation (GO:0002244)|spongiotrophoblast layer development (GO:0060712)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(9)|large_intestine(8)|lung(16)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0432)			AGGGCAGTGGCGTCATGGGTC	0.577																																						ENST00000520727.1																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(9)|large_intestine(8)|lung(16)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	54						c.(3397-3399)Gcc>Acc		zinc finger and AT hook domain containing		C	THR/ALA,THR/ALA,THR/ALA,,THR/ALA	0,4160		0,0,2080	112	117	115		3397,3397,3247,,3433	4	0.3	8		115	1,8433		0,1,4216	no	missense,missense,missense,intron,missense	ZFAT	NM_001029939.3,NM_001167583.2,NM_001174157.1,NM_001174158.1,NM_020863.3	58,58,58,,58	0,1,6296	TT,TC,CC		0.0119,0.0,0.0079	benign,benign,benign,,benign	1133/1232,1133/1232,1083/1182,,1145/1244	135521921	1,12593	2080	4217	6297	SO:0001583	missense	57623				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	DNA binding|zinc ion binding	g.chr8:135521921C>T	BC025423	CCDS43768.1, CCDS47924.1, CCDS43768.2, CCDS55275.1, CCDS55276.1	8q24.23	2008-06-05	2008-01-25	2008-01-25	ENSG00000066827	ENSG00000066827		"Zinc fingers, C2H2-type"	19899	protein-coding gene	gene with protein product		610931	"zinc finger protein 406"	ZNF406, ZFAT1		10819331, 18329245	Standard	NM_020863		Approved	KIAA1485	uc003yup.3	Q9P243	OTTHUMG00000164321	ENST00000377838.3:c.3433G>A	8.37:g.135521921C>T	ENSP00000367069:p.Ala1145Thr					ZFAT_ENST00000520356.1_Intron|ZFAT_ENST00000429442.2_Intron|ZFAT_ENST00000520214.1_Missense_Mutation_p.A1133T|ZFAT_ENST00000523399.1_Missense_Mutation_p.A1083T|ZFAT_ENST00000377838.3_Missense_Mutation_p.A1145T	p.A1133T	NM_001029939.3	NP_001025110.2	Q9P243	ZFAT_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0432)		16	3696	-	all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155)		1145					B7ZL15|E9PER3|Q3MIM5|Q6PJ01|Q75PJ6|Q75PJ7|Q75PJ9|Q86X64	Missense_Mutation	SNP	ENST00000377838.3	37	c.3397G>A	CCDS47924.1	.	.	.	.	.	.	.	.	.	.	C	15.88	2.963979	0.53507	0.0	1.19E-4	ENSG00000066827	ENST00000520727;ENST00000377838;ENST00000520214;ENST00000521673;ENST00000318135;ENST00000523399	T;T;T;T	0.12879	2.64;2.67;2.64;2.71	5.81	4.04	0.47022	.	0.155825	0.44097	N	0.000485	T	0.09555	0.0235	L	0.29908	0.895	0.46149	D	0.998892	B;B;B	0.34255	0.349;0.445;0.087	B;B;B	0.24155	0.019;0.051;0.013	T	0.11060	-1.0603	10	0.62326	D	0.03	-13.5019	11.4873	0.50361	0.0:0.8562:0.0:0.1438	.	264;1083;1145	B7Z741;E9PER3;Q9P243	.;.;ZFAT_HUMAN	T	1133;1145;1133;65;1032;1083	ENSP00000427831:A1133T;ENSP00000367069:A1145T;ENSP00000428483:A1133T;ENSP00000429091:A1083T	ENSP00000326997:A1032T	A	-	1	0	ZFAT	135591103	0.991000	0.36638	0.274000	0.24659	0.636000	0.38137	3.048000	0.49862	0.820000	0.34516	0.557000	0.71058	GCC		0.577	ZFAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378272.1	NM_001029939		16	31	0	0	0	1	0	16	31					T	135521921	C	T	135521921	3	4	435	1	0	0	0	0	1	0	0	0	17629	768	27	1	306	1	ZFAT	8	135521921	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	1229429	135521921	10842101	4148	25073											
ZFAT	57623	broad.mit.edu	37	chr8	135524784	135524784	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtgtcccttgaacgtcttCttcggcctctgtgatgtgga	4	15	11	11	2	3	2	0	2	3	0	5	3	4	3	2	2	1	0	2	2	1	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:135524784C>A	ENST00000377838.3	-	14	3469	c.3295G>T	c.(3295-3297)Gaa>Taa	p.E1099*	ZFAT_ENST00000520727.1_Nonsense_Mutation_p.E1087*|ZFAT_ENST00000517307.1_5'Flank|ZFAT_ENST00000429442.2_Nonsense_Mutation_p.E1087*|ZFAT_ENST00000523399.1_Nonsense_Mutation_p.E1037*|ZFAT_ENST00000520214.1_Nonsense_Mutation_p.E1087*|ZFAT_ENST00000520356.1_Intron	NM_001174157.1|NM_020863.3	NP_001167628.1|NP_065914.2	Q9P243	ZFAT_HUMAN	zinc finger and AT hook domain containing	1099					hematopoietic progenitor cell differentiation (GO:0002244)|spongiotrophoblast layer development (GO:0060712)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(9)|large_intestine(8)|lung(16)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0432)			TGAACGTCTTCTTCGGCCTCT	0.522																																						ENST00000520727.1																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(9)|large_intestine(8)|lung(16)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	54						c.(3259-3261)Gaa>Taa		zinc finger and AT hook domain containing							159	167	164					8																	135524784		1988	4160	6148	SO:0001587	stop_gained	57623				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	DNA binding|zinc ion binding	g.chr8:135524784C>A	BC025423	CCDS43768.1, CCDS47924.1, CCDS43768.2, CCDS55275.1, CCDS55276.1	8q24.23	2008-06-05	2008-01-25	2008-01-25	ENSG00000066827	ENSG00000066827		"Zinc fingers, C2H2-type"	19899	protein-coding gene	gene with protein product		610931	"zinc finger protein 406"	ZNF406, ZFAT1		10819331, 18329245	Standard	NM_020863		Approved	KIAA1485	uc003yup.3	Q9P243	OTTHUMG00000164321	ENST00000377838.3:c.3295G>T	8.37:g.135524784C>A	ENSP00000367069:p.Glu1099*					ZFAT_ENST00000520356.1_Intron|ZFAT_ENST00000429442.2_Nonsense_Mutation_p.E1087*|ZFAT_ENST00000520214.1_Nonsense_Mutation_p.E1087*|ZFAT_ENST00000523399.1_Nonsense_Mutation_p.E1037*|ZFAT_ENST00000377838.3_Nonsense_Mutation_p.E1099*	p.E1087*	NM_001029939.3	NP_001025110.2	Q9P243	ZFAT_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0432)		15	3558	-	all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155)		1099					B7ZL15|E9PER3|Q3MIM5|Q6PJ01|Q75PJ6|Q75PJ7|Q75PJ9|Q86X64	Nonsense_Mutation	SNP	ENST00000377838.3	37	c.3259G>T	CCDS47924.1	.	.	.	.	.	.	.	.	.	.	C	37	6.583928	0.97684	.	.	ENSG00000066827	ENST00000520727;ENST00000429442;ENST00000377838;ENST00000520214;ENST00000318135;ENST00000523399	.	.	.	4.8	4.8	0.61643	.	0.443117	0.24544	N	0.037604	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-29.0559	10.9118	0.47114	0.0:0.9145:0.0:0.0855	.	.	.	.	X	1087;1087;1099;1087;986;1037	.	ENSP00000326997:E986X	E	-	1	0	ZFAT	135593966	1.000000	0.71417	0.788000	0.31933	0.240000	0.25518	3.071000	0.50041	2.648000	0.89879	0.563000	0.77884	GAA		0.522	ZFAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378272.1	NM_001029939		50	68	1	0	2.76378e-25	1	3.08483e-25	50	68					A	135524784	C	A	135524784	4	1	435	1	0	0	0	0	0	1	0	0	17629	922	32	5	448	5	ZFAT	8	135524784	Nonsense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	2863	135524784	10839238	4149	25074											
ZFAT	57623	broad.mit.edu	37	chr8	135649893	135649893	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttttctgccagctcctcttCtgtgctggacttcttcgtgg	2	17	10	12	1	4	0	0	0	4	0	6	1	5	1	2	2	3	3	2	2	0	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:135649893C>A	ENST00000377838.3	-	3	433	c.259G>T	c.(259-261)Gaa>Taa	p.E87*	ZFAT_ENST00000520727.1_Nonsense_Mutation_p.E75*|ZFAT_ENST00000429442.2_Nonsense_Mutation_p.E75*|ZFAT_ENST00000523399.1_Nonsense_Mutation_p.E87*|ZFAT_ENST00000520214.1_Nonsense_Mutation_p.E75*|ZFAT_ENST00000520356.1_Nonsense_Mutation_p.E75*	NM_001174157.1|NM_020863.3	NP_001167628.1|NP_065914.2	Q9P243	ZFAT_HUMAN	zinc finger and AT hook domain containing	87					hematopoietic progenitor cell differentiation (GO:0002244)|spongiotrophoblast layer development (GO:0060712)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(9)|large_intestine(8)|lung(16)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0432)			AGCTCCTCTTCTGTGCTGGAC	0.547																																						ENST00000520727.1																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(9)|large_intestine(8)|lung(16)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	54						c.(223-225)Gaa>Taa		zinc finger and AT hook domain containing							131	129	130					8																	135649893		2140	4246	6386	SO:0001587	stop_gained	57623				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	DNA binding|zinc ion binding	g.chr8:135649893C>A	BC025423	CCDS43768.1, CCDS47924.1, CCDS43768.2, CCDS55275.1, CCDS55276.1	8q24.23	2008-06-05	2008-01-25	2008-01-25	ENSG00000066827	ENSG00000066827		"Zinc fingers, C2H2-type"	19899	protein-coding gene	gene with protein product		610931	"zinc finger protein 406"	ZNF406, ZFAT1		10819331, 18329245	Standard	NM_020863		Approved	KIAA1485	uc003yup.3	Q9P243	OTTHUMG00000164321	ENST00000377838.3:c.259G>T	8.37:g.135649893C>A	ENSP00000367069:p.Glu87*					ZFAT_ENST00000520356.1_Nonsense_Mutation_p.E75*|ZFAT_ENST00000429442.2_Nonsense_Mutation_p.E75*|ZFAT_ENST00000520214.1_Nonsense_Mutation_p.E75*|ZFAT_ENST00000523399.1_Nonsense_Mutation_p.E87*|ZFAT_ENST00000377838.3_Nonsense_Mutation_p.E87*	p.E75*	NM_001029939.3	NP_001025110.2	Q9P243	ZFAT_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0432)		4	522	-	all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155)		87					B7ZL15|E9PER3|Q3MIM5|Q6PJ01|Q75PJ6|Q75PJ7|Q75PJ9|Q86X64	Nonsense_Mutation	SNP	ENST00000377838.3	37	c.223G>T	CCDS47924.1	.	.	.	.	.	.	.	.	.	.	C	37	6.198903	0.97371	.	.	ENSG00000066827	ENST00000520356;ENST00000520727;ENST00000429442;ENST00000377838;ENST00000520214;ENST00000318135;ENST00000523399;ENST00000398946;ENST00000522257;ENST00000518191	.	.	.	5.09	4.15	0.48705	.	0.464109	0.20012	N	0.101112	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.12766	T	0.61	-23.4383	13.3943	0.60840	0.1578:0.8422:0.0:0.0	.	.	.	.	X	75;75;75;87;75;75;87;75;25;75	.	ENSP00000326997:E75X	E	-	1	0	ZFAT	135719075	0.992000	0.36948	0.694000	0.30210	0.417000	0.31264	3.679000	0.54634	2.367000	0.80283	0.561000	0.74099	GAA		0.547	ZFAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378272.1	NM_001029939		5	96	1	0	0.014758	1	0.0148771	5	96					A	135649893	C	A	135649893	4	1	435	1	0	0	0	0	0	1	0	0	17629	922	32	5	3528	5	ZFAT	8	135649893	Nonsense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	125109	135649893	10714129	4150	25075											
FAM135B	51059	broad.mit.edu	37	chr8	139323133	139323133	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtgggggatccttgaagaCaccttcaaggtcactcggat	9	10	12	10	1	2	2	2	1	0	1	4	4	3	4	2	4	0	0	2	4	2	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:139323133C>T	ENST00000395297.1	-	3	278	c.108G>A	c.(106-108)gtG>gtA	p.V36V		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	36										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			TCCTTGAAGACACCTTCAAGG	0.507										HNSCC(54;0.14)																												ENST00000395297.1																			0				NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238						c.(106-108)gtG>gtA		family with sequence similarity 135, member B							83	79	80					8																	139323133		1968	4145	6113	SO:0001819	synonymous_variant	51059							g.chr8:139323133C>T	AB196635	CCDS6375.2	8q24.23	2008-11-05			ENSG00000147724	ENSG00000147724			28029	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_015912		Approved	C8ORFK32	uc003yuy.3	Q49AJ0	OTTHUMG00000149864	ENST00000395297.1:c.108G>A	8.37:g.139323133C>T		HNSCC(54;0.14)					p.V36V	NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0805)		3	278	-	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		36					B5MDB3|O95879|Q2WGJ7|Q3KP46	Silent	SNP	ENST00000395297.1	37	c.108G>A	CCDS6375.2																																																																																				0.507	FAM135B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313590.3	NM_015912		29	53	0	0	0	1	0	29	53					T	139323133	C	T	139323133	2	4	435	1	0	0	0	0	0	0	0	1	5449	465	17	3		3	FAM135B	8	139323133	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	3673240	139323133	7040889	4151	25076											
COL22A1	169044	broad.mit.edu	37	chr8	139611048	139611048	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tagtccttggggacccatcaGgcctgtgtggcctttgtggc	4	12	14	11	0	1	0	1	0	0	0	2	1	2	1	4	5	0	0	4	5	1	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:139611048G>T	ENST00000303045.6	-	61	4725	c.4279C>A	c.(4279-4281)Ctg>Atg	p.L1427M	COL22A1_ENST00000341807.4_5'UTR|COL22A1_ENST00000435777.1_Missense_Mutation_p.L1407M	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	1427	Collagen-like 14.|Gly-rich.|Pro-rich.				extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			GGACCCATCAGGCCTGTGTGG	0.597										HNSCC(7;0.00092)																												ENST00000303045.6																			0				breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211						c.(4279-4281)Ctg>Atg		collagen, type XXII, alpha 1							65	64	64					8																	139611048		2203	4300	6503	SO:0001583	missense	169044				cell adhesion	collagen|cytoplasm	structural molecule activity	g.chr8:139611048G>T	AF406780	CCDS6376.1	8q24.3	2013-01-16			ENSG00000169436	ENSG00000169436		"Collagens"	22989	protein-coding gene	gene with protein product		610026					Standard	NM_152888		Approved		uc003yvd.3	Q8NFW1	OTTHUMG00000150035	ENST00000303045.6:c.4279C>A	8.37:g.139611048G>T	ENSP00000303153:p.Leu1427Met	HNSCC(7;0.00092)				COL22A1_ENST00000341807.4_5'UTR|COL22A1_ENST00000435777.1_Missense_Mutation_p.L1407M	p.L1427M	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0517)		61	4725	-	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		1427			Collagen-like 14.|Gly-rich.|Pro-rich.		B7ZMH0|C9K0G4|Q8IVT9	Missense_Mutation	SNP	ENST00000303045.6	37	c.4279C>A	CCDS6376.1	.	.	.	.	.	.	.	.	.	.	G	13.51	2.257346	0.39896	.	.	ENSG00000169436	ENST00000303045;ENST00000435777;ENST00000545577	D;D	0.93426	-3.22;-3.22	5.61	4.63	0.57726	.	0.289177	0.19381	U	0.115654	D	0.89715	0.6795	N	0.12182	0.205	0.30914	N	0.728809	P;P	0.45594	0.862;0.476	P;B	0.54499	0.754;0.326	D	0.86427	0.1758	10	0.42905	T	0.14	.	8.2483	0.31702	0.2008:0.0:0.7992:0.0	.	1407;1427	Q8NFW1-2;Q8NFW1	.;COMA1_HUMAN	M	1427;1407;1120	ENSP00000303153:L1427M;ENSP00000387655:L1407M	ENSP00000303153:L1427M	L	-	1	2	COL22A1	139680230	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.254000	0.43214	2.638000	0.89438	0.650000	0.86243	CTG		0.597	COL22A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000315905.2	XM_291257		16	24	1	0	1.3612e-06	1	1.41782e-06	16	24					T	139611048	G	T	139611048	3	4	435	1	0	0	0	0	1	0	0	0	3681	991	35	5	621	5	COL22A1	8	139611048	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	287915	139611048	6752974	4152	25077											
COL22A1	169044	broad.mit.edu	37	chr8	139820036	139820036	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gaccagggagccccatggggCcagcaactcccatttcaccc	9	5	10	17	0	1	0	1	0	0	0	2	2	2	1	6	3	3	1	6	3	1	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:139820036C>T	ENST00000303045.6	-	10	1915	c.1469G>A	c.(1468-1470)gGc>gAc	p.G490D	COL22A1_ENST00000435777.1_Missense_Mutation_p.G490D	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	490	Collagen-like 1.|Gly-rich.|Pro-rich.				extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			CCCCATGGGGCCAGCAACTCC	0.443										HNSCC(7;0.00092)																												ENST00000303045.6																			0				breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211						c.(1468-1470)gGc>gAc		collagen, type XXII, alpha 1							116	121	119					8																	139820036		2203	4300	6503	SO:0001583	missense	169044				cell adhesion	collagen|cytoplasm	structural molecule activity	g.chr8:139820036C>T	AF406780	CCDS6376.1	8q24.3	2013-01-16			ENSG00000169436	ENSG00000169436		"Collagens"	22989	protein-coding gene	gene with protein product		610026					Standard	NM_152888		Approved		uc003yvd.3	Q8NFW1	OTTHUMG00000150035	ENST00000303045.6:c.1469G>A	8.37:g.139820036C>T	ENSP00000303153:p.Gly490Asp	HNSCC(7;0.00092)				COL22A1_ENST00000435777.1_Missense_Mutation_p.G490D	p.G490D	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0517)		10	1915	-	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		490			Collagen-like 1.|Gly-rich.|Pro-rich.		B7ZMH0|C9K0G4|Q8IVT9	Missense_Mutation	SNP	ENST00000303045.6	37	c.1469G>A	CCDS6376.1	.	.	.	.	.	.	.	.	.	.	C	14.95	2.687276	0.48097	.	.	ENSG00000169436	ENST00000303045;ENST00000435777	D;D	0.98362	-4.89;-4.89	4.61	4.61	0.57282	.	0.000000	0.46758	U	0.000267	D	0.99360	0.9775	H	0.98507	4.25	0.49130	D	0.999759	D	0.89917	1.0	D	0.87578	0.998	D	0.98237	1.0486	9	.	.	.	.	13.7328	0.62799	0.0:1.0:0.0:0.0	.	490	Q8NFW1	COMA1_HUMAN	D	490	ENSP00000303153:G490D;ENSP00000387655:G490D	.	G	-	2	0	COL22A1	139889218	1.000000	0.71417	0.936000	0.37596	0.121000	0.20230	3.700000	0.54786	2.520000	0.84964	0.644000	0.83932	GGC		0.443	COL22A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000315905.2	XM_291257		17	46	0	0	0	1	0	17	46					T	139820036	C	T	139820036	3	4	435	1	0	0	0	0	1	0	0	0	3681	739	26	3	3635	3	COL22A1	8	139820036	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	208988	139820036	6543986	4153	25078											
TRAPPC9	83696	broad.mit.edu	37	chr8	141461101	141461101	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcggtgcgcggctgctccacGatctccccctgcagcccgaa	5	7	11	18	5	1	0	0	0	1	0	4	2	2	0	4	2	4	3	4	2	1	0	rs377446017		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:141461101G>A	ENST00000438773.2	-	2	505	c.372C>T	c.(370-372)atC>atT	p.I124I	TRAPPC9_ENST00000389327.3_Silent_p.I124I|TRAPPC9_ENST00000389328.4_Silent_p.I222I	NM_001160372.1	NP_001153844.1	Q96Q05	TPPC9_HUMAN	trafficking protein particle complex 9	124					cell differentiation (GO:0030154)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)				breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	47						GCTGCTCCACGATCTCCCCCT	0.572																																						ENST00000389328.4																			0				breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	47						c.(664-666)atC>atT		trafficking protein particle complex 9		G	,	0,4406		0,0,2203	66	58	61		372,666	-6.7	0	8		61	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	TRAPPC9	NM_001160372.1,NM_031466.5	,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,	124/1149,222/1247	141461101	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	83696				cell differentiation	endoplasmic reticulum|Golgi apparatus		g.chr8:141461101G>A	BC006206	CCDS34946.1, CCDS55278.1	8q24.3	2010-10-22			ENSG00000167632	ENSG00000167632		"Trafficking protein particle complex"	30832	protein-coding gene	gene with protein product	"TRAPP 120 kDa subunit", "tularik gene 1"	611966				11572484	Standard	NM_031466		Approved	IKBKBBP, NIBP, KIAA1882, T1, TRS120, MRT13	uc003yvh.2	Q96Q05	OTTHUMG00000164187	ENST00000438773.2:c.372C>T	8.37:g.141461101G>A						TRAPPC9_ENST00000389327.3_Silent_p.I124I|TRAPPC9_ENST00000438773.2_Silent_p.I124I	p.I222I	NM_031466.5	NP_113654.4	Q96Q05	TPPC9_HUMAN			2	680	-			124					Q4VTT3|Q658K7|Q6P149|Q6ZQT3|Q7L5C4|Q86Y21|Q96SL2|Q9BQA2	Silent	SNP	ENST00000438773.2	37	c.666C>T	CCDS55278.1																																																																																				0.572	TRAPPC9-002	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000377749.1	NM_031466		19	31	0	0	0	1	0	19	31					A	141461101	G	A	141461101	2	1	435	1	0	0	0	0	0	0	0	1	16462	1048	37	2		2	TRAPPC9	8	141461101	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	1641065	141461101	4902921	4154	25079											
EIF2C2	27161	broad.mit.edu	37	chr8	141572638	141572638	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agccgccctgaaagtgcatcGtgtaacgcctgcaagctcac	10	7	10	14	3	1	1	1	1	0	0	2	1	1	1	3	0	5	4	3	0	3	1	rs149363419	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:141572638G>A	ENST00000220592.5	-	4	544	c.432C>T	c.(430-432)caC>caT	p.H144H	AGO2_ENST00000519980.1_Silent_p.H144H	NM_012154.3	NP_036286.2	Q9UKV8	AGO2_HUMAN	argonaute RISC catalytic component 2	144					epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|innate immune response (GO:0045087)|mRNA cleavage involved in gene silencing by miRNA (GO:0035279)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|negative regulation of translational initiation (GO:0045947)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|post-embryonic development (GO:0009791)|pre-miRNA processing (GO:0031054)|regulation of transcription, DNA-templated (GO:0006355)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|transcription, DNA-templated (GO:0006351)|translation (GO:0006412)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|membrane (GO:0016020)|micro-ribonucleoprotein complex (GO:0035068)|mRNA cap binding complex (GO:0005845)|nucleus (GO:0005634)|polysome (GO:0005844)|ribonucleoprotein complex (GO:0030529)|RISC complex (GO:0016442)	endoribonuclease activity (GO:0004521)|endoribonuclease activity, cleaving siRNA-paired mRNA (GO:0070551)|metal ion binding (GO:0046872)|miRNA binding (GO:0035198)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|RNA 7-methylguanosine cap binding (GO:0000340)|siRNA binding (GO:0035197)|translation initiation factor activity (GO:0003743)										AAAGTGCATCGTGTAACGCCT	0.607													G|||	14	0.00279553	0.0106	0	5008	,	,		19813	0		0	False		,,,				2504	0					ENST00000220592.5																			0											c.(430-432)caC>caT		argonaute RISC catalytic component 2		G	,	27,4379	33.5+/-64.1	0,27,2176	173	139	150		432,432	-2.7	0.6	8	dbSNP_134	150	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	EIF2C2	NM_001164623.1,NM_012154.3	,	0,27,6476	AA,AG,GG		0.0,0.6128,0.2076	,	144/826,144/860	141572638	27,12979	2203	4300	6503	SO:0001819	synonymous_variant	27161							g.chr8:141572638G>A	AF121255	CCDS6380.1, CCDS55279.1	8q24.3	2013-02-15	2013-02-15	2013-02-15	ENSG00000123908	ENSG00000123908		"Argonaute/PIWI family"	3263	protein-coding gene	gene with protein product	"argonaute 2"	606229	"eukaryotic translation initiation factor 2C, 2"	EIF2C2		10534406, 12906857	Standard	NM_012154		Approved	hAGO2, Q10	uc003yvn.3	Q9UKV8	OTTHUMG00000164232	ENST00000220592.5:c.432C>T	8.37:g.141572638G>A						AGO2_ENST00000519980.1_Silent_p.H144H	p.H144H	NM_012154.3	NP_036286.2					4	544	-								Q8TCZ5|Q8WV58|Q96ID1	Silent	SNP	ENST00000220592.5	37	c.432C>T	CCDS6380.1																																																																																				0.607	AGO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377866.4			26	63	0	0	0	1	0	26	63					A	141572638	G	A	141572638	2	1	435	1	0	0	0	0	0	0	0	1	5006	1136	40	1		1	EIF2C2	8	141572638	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	111537	141572638	4791384	4155	25080											
PTK2	5747	broad.mit.edu	37	chr8	141754812	141754812	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	actaagctgataggcatacaGgatcaaagatgctagatcca	16	8	9	8	0	1	3	1	1	0	2	2	4	2	4	1	2	3	3	1	2	5	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:141754812G>A	ENST00000522684.1	-	19	1802	c.1573C>T	c.(1573-1575)Ctg>Ttg	p.L525L	PTK2_ENST00000395218.2_Silent_p.L525L|PTK2_ENST00000538769.1_Silent_p.L193L|PTK2_ENST00000517887.1_Silent_p.L569L|PTK2_ENST00000521059.1_Silent_p.L525L|PTK2_ENST00000519419.1_Silent_p.L569L|PTK2_ENST00000535192.1_Silent_p.L525L|PTK2_ENST00000340930.3_Silent_p.L525L|PTK2_ENST00000520151.1_Missense_Mutation_p.P119L|PTK2_ENST00000519465.1_Silent_p.L153L	NM_153831.3	NP_722560.1	Q05397	FAK1_HUMAN	protein tyrosine kinase 2	525	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell motility (GO:0048870)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|central nervous system neuron axonogenesis (GO:0021955)|embryo development (GO:0009790)|endothelial cell migration (GO:0043542)|ephrin receptor signaling pathway (GO:0048013)|establishment of cell polarity (GO:0030010)|establishment of nucleus localization (GO:0040023)|extracellular matrix organization (GO:0030198)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|growth hormone receptor signaling pathway (GO:0060396)|heart morphogenesis (GO:0003007)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|microtubule cytoskeleton organization (GO:0000226)|negative regulation of anoikis (GO:2000811)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of organ growth (GO:0046621)|negative regulation of synapse assembly (GO:0051964)|netrin-activated signaling pathway (GO:0038007)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|placenta development (GO:0001890)|platelet activation (GO:0030168)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|protein autophosphorylation (GO:0046777)|regulation of cell adhesion mediated by integrin (GO:0033628)|regulation of cell proliferation (GO:0042127)|regulation of cell shape (GO:0008360)|regulation of cytoskeleton organization (GO:0051493)|regulation of endothelial cell migration (GO:0010594)|regulation of focal adhesion assembly (GO:0051893)|regulation of osteoblast differentiation (GO:0045667)|regulation of Rho GTPase activity (GO:0032319)|signal complex assembly (GO:0007172)|transforming growth factor beta receptor signaling pathway (GO:0007179)|vasculogenesis (GO:0001570)	apical plasma membrane (GO:0016324)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|stress fiber (GO:0001725)	actin binding (GO:0003779)|ATP binding (GO:0005524)|JUN kinase binding (GO:0008432)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|SH2 domain binding (GO:0042169)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(6)|lung(23)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	48	all_cancers(97;1.05e-15)|all_epithelial(106;2.09e-14)|Lung NSC(106;1.61e-06)|all_lung(105;2.5e-06)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;2.72e-05)|Breast(495;0.159)	BRCA - Breast invasive adenocarcinoma(115;0.137)			TAGGCATACAGGATCAAAGAT	0.343																																						ENST00000520151.1																			0				breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(6)|lung(23)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	48						c.(355-357)cCt>cTt		protein tyrosine kinase 2							131	120	123					8																	141754812		2203	4300	6503	SO:0001819	synonymous_variant	5747				axon guidance|blood coagulation|cellular component disassembly involved in apoptosis|ephrin receptor signaling pathway|growth hormone receptor signaling pathway|integrin-mediated signaling pathway|peptidyl-tyrosine phosphorylation|protein autophosphorylation|regulation of cell adhesion mediated by integrin|signal complex assembly	cytoskeleton|cytosol|focal adhesion	ATP binding|JUN kinase binding|non-membrane spanning protein tyrosine kinase activity|SH2 domain binding|signal transducer activity	g.chr8:141754812G>A	L13616	CCDS6381.1, CCDS56557.1	8q24.3	2013-02-18	2013-02-18		ENSG00000169398	ENSG00000169398	2.7.10.1	"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	9611	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 71"	600758	"PTK2 protein tyrosine kinase 2"			8422239	Standard	NM_153831		Approved	FAK, FADK, FAK1, PPP1R71	uc003yvt.3	Q05397	OTTHUMG00000067438	ENST00000522684.1:c.1573C>T	8.37:g.141754812G>A						PTK2_ENST00000340930.3_Silent_p.L525L|PTK2_ENST00000521059.1_Silent_p.L525L|PTK2_ENST00000538769.1_Silent_p.L193L|PTK2_ENST00000517887.1_Silent_p.L569L|PTK2_ENST00000522684.1_Silent_p.L525L|PTK2_ENST00000519419.1_Silent_p.L569L|PTK2_ENST00000535192.1_Silent_p.L525L|PTK2_ENST00000519465.1_Silent_p.L153L|PTK2_ENST00000395218.2_Silent_p.L525L	p.P119L			Q05397	FAK1_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.137)		4	417	-	all_cancers(97;1.05e-15)|all_epithelial(106;2.09e-14)|Lung NSC(106;1.61e-06)|all_lung(105;2.5e-06)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;2.72e-05)|Breast(495;0.159)	0			FERM.		B4E2N6|F5H4S4|Q14291|Q9UD85	Missense_Mutation	SNP	ENST00000522684.1	37	c.356C>T	CCDS6381.1	.	.	.	.	.	.	.	.	.	.	G	6.110	0.388571	0.11581	.	.	ENSG00000169398	ENST00000519654	.	.	.	5.38	4.49	0.54785	.	.	.	.	.	T	0.68979	0.3060	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.67753	-0.5589	4	.	.	.	.	13.1595	0.59537	0.0779:0.0:0.9221:0.0	.	.	.	.	L	535	.	.	P	-	2	0	PTK2	141823994	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.781000	0.55394	1.244000	0.43870	0.591000	0.81541	CCT		0.343	PTK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378054.5	NM_005607		56	85	0	0	0	1	0	56	85					A	141754812	G	A	141754812	2	1	435	1	0	0	0	0	0	0	0	1	12762	991	35	3		3	PTK2	8	141754812	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	182174	141754812	4609210	4156	25081											
PTK2	5747	broad.mit.edu	37	chr8	141799585	141799585	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccccttacctgacacagagaCggcgtgtgtccgcatgcctt	7	9	10	15	3	0	2	0	1	0	1	1	3	1	2	5	1	2	1	5	1	1	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:141799585C>T	ENST00000522684.1	-	14	1394	c.1165G>A	c.(1165-1167)Gtc>Atc	p.V389I	PTK2_ENST00000395218.2_Missense_Mutation_p.V389I|PTK2_ENST00000538769.1_Missense_Mutation_p.V50I|PTK2_ENST00000517887.1_Missense_Mutation_p.V433I|PTK2_ENST00000521059.1_Missense_Mutation_p.V389I|PTK2_ENST00000519419.1_Missense_Mutation_p.V433I|PTK2_ENST00000535192.1_Missense_Mutation_p.V389I|PTK2_ENST00000340930.3_Missense_Mutation_p.V389I	NM_153831.3	NP_722560.1	Q05397	FAK1_HUMAN	protein tyrosine kinase 2	389					angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell motility (GO:0048870)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|central nervous system neuron axonogenesis (GO:0021955)|embryo development (GO:0009790)|endothelial cell migration (GO:0043542)|ephrin receptor signaling pathway (GO:0048013)|establishment of cell polarity (GO:0030010)|establishment of nucleus localization (GO:0040023)|extracellular matrix organization (GO:0030198)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|growth hormone receptor signaling pathway (GO:0060396)|heart morphogenesis (GO:0003007)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|microtubule cytoskeleton organization (GO:0000226)|negative regulation of anoikis (GO:2000811)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of organ growth (GO:0046621)|negative regulation of synapse assembly (GO:0051964)|netrin-activated signaling pathway (GO:0038007)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|placenta development (GO:0001890)|platelet activation (GO:0030168)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|protein autophosphorylation (GO:0046777)|regulation of cell adhesion mediated by integrin (GO:0033628)|regulation of cell proliferation (GO:0042127)|regulation of cell shape (GO:0008360)|regulation of cytoskeleton organization (GO:0051493)|regulation of endothelial cell migration (GO:0010594)|regulation of focal adhesion assembly (GO:0051893)|regulation of osteoblast differentiation (GO:0045667)|regulation of Rho GTPase activity (GO:0032319)|signal complex assembly (GO:0007172)|transforming growth factor beta receptor signaling pathway (GO:0007179)|vasculogenesis (GO:0001570)	apical plasma membrane (GO:0016324)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|stress fiber (GO:0001725)	actin binding (GO:0003779)|ATP binding (GO:0005524)|JUN kinase binding (GO:0008432)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|SH2 domain binding (GO:0042169)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(6)|lung(23)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	48	all_cancers(97;1.05e-15)|all_epithelial(106;2.09e-14)|Lung NSC(106;1.61e-06)|all_lung(105;2.5e-06)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;2.72e-05)|Breast(495;0.159)	BRCA - Breast invasive adenocarcinoma(115;0.137)			GACACAGAGACGGCGTGTGTC	0.507																																						ENST00000522684.1																			0				breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(6)|lung(23)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	48						c.(1165-1167)Gtc>Atc		protein tyrosine kinase 2							258	239	245					8																	141799585		2203	4300	6503	SO:0001583	missense	5747				axon guidance|blood coagulation|cellular component disassembly involved in apoptosis|ephrin receptor signaling pathway|growth hormone receptor signaling pathway|integrin-mediated signaling pathway|peptidyl-tyrosine phosphorylation|protein autophosphorylation|regulation of cell adhesion mediated by integrin|signal complex assembly	cytoskeleton|cytosol|focal adhesion	ATP binding|JUN kinase binding|non-membrane spanning protein tyrosine kinase activity|SH2 domain binding|signal transducer activity	g.chr8:141799585C>T	L13616	CCDS6381.1, CCDS56557.1	8q24.3	2013-02-18	2013-02-18		ENSG00000169398	ENSG00000169398	2.7.10.1	"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	9611	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 71"	600758	"PTK2 protein tyrosine kinase 2"			8422239	Standard	NM_153831		Approved	FAK, FADK, FAK1, PPP1R71	uc003yvt.3	Q05397	OTTHUMG00000067438	ENST00000522684.1:c.1165G>A	8.37:g.141799585C>T	ENSP00000429911:p.Val389Ile					PTK2_ENST00000340930.3_Missense_Mutation_p.V389I|PTK2_ENST00000521059.1_Missense_Mutation_p.V389I|PTK2_ENST00000538769.1_Missense_Mutation_p.V50I|PTK2_ENST00000517887.1_Missense_Mutation_p.V433I|PTK2_ENST00000519419.1_Missense_Mutation_p.V433I|PTK2_ENST00000535192.1_Missense_Mutation_p.V389I|PTK2_ENST00000395218.2_Missense_Mutation_p.V389I	p.V389I	NM_153831.3	NP_722560.1	Q05397	FAK1_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.137)		14	1394	-	all_cancers(97;1.05e-15)|all_epithelial(106;2.09e-14)|Lung NSC(106;1.61e-06)|all_lung(105;2.5e-06)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;2.72e-05)|Breast(495;0.159)	389					B4E2N6|F5H4S4|Q14291|Q9UD85	Missense_Mutation	SNP	ENST00000522684.1	37	c.1165G>A	CCDS6381.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	10.15|10.15	1.270647|1.270647	0.23221|0.23221	.|.	.|.	ENSG00000169398|ENSG00000169398	ENST00000519654|ENST00000522684;ENST00000535192;ENST00000517887;ENST00000521059;ENST00000395214;ENST00000395218;ENST00000354438;ENST00000395221;ENST00000523539;ENST00000340930;ENST00000538769;ENST00000519419;ENST00000521986;ENST00000342207	.|T;T;T;T;T;T;T;T;T;T	.|0.75477	.|-0.93;-0.92;-0.94;-0.93;-0.92;-0.91;-0.92;-0.9;-0.94;-0.94	5.87|5.87	5.0|5.0	0.66597|0.66597	.|.	.|0.162695	.|0.56097	.|D	.|0.000034	T|T	0.53465|0.53465	0.1798|0.1798	N|N	0.08118|0.08118	0|0	0.28635|0.28635	N|N	0.907456|0.907456	.|B;B;B;B;B;B;B;B	.|0.15141	.|0.012;0.006;0.003;0.009;0.002;0.005;0.006;0.002	.|B;B;B;B;B;B;B;B	.|0.10450	.|0.002;0.005;0.001;0.001;0.001;0.001;0.001;0.001	T|T	0.41088|0.41088	-0.9528|-0.9528	5|10	.|0.17832	.|T	.|0.49	.|.	12.9243|12.9243	0.58252|0.58252	0.1625:0.8375:0.0:0.0|0.1625:0.8375:0.0:0.0	.|.	.|389;50;296;389;411;389;300;50	.|B4E2N6;B4DH13;Q59GN8;Q05397;Q658W2;Q8IYN9;Q59GM6;Q8N9D7	.|.;.;.;FAK1_HUMAN;.;.;.;.	H|I	399|389;389;433;389;299;389;296;50;54;389;50;433;53;207	.|ENSP00000429911:V389I;ENSP00000438009:V389I;ENSP00000429082:V433I;ENSP00000429474:V389I;ENSP00000378644:V389I;ENSP00000428492:V54I;ENSP00000341189:V389I;ENSP00000445742:V50I;ENSP00000429129:V433I;ENSP00000430603:V53I	.|ENSP00000341189:V389I	R|V	-|-	2|1	0|0	PTK2|PTK2	141868767|141868767	0.982000|0.982000	0.34865|0.34865	0.915000|0.915000	0.36163|0.36163	0.947000|0.947000	0.59692|0.59692	2.742000|2.742000	0.47434|0.47434	1.643000|1.643000	0.50594|0.50594	-0.121000|-0.121000	0.15023|0.15023	CGT|GTC		0.507	PTK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378054.5	NM_005607		6	167	0	0	0	1	0	6	167					T	141799585	C	T	141799585	3	4	435	1	0	0	0	0	1	0	0	0	12762	536	19	1	2069	1	PTK2	8	141799585	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	44773	141799585	4564437	4157	25082											
PTK2	5747	broad.mit.edu	37	chr8	141856769	141856769	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gctatctctaacatataatcGctcttcacctacaacaaaag	15	11	3	12	1	3	0	1	0	2	0	5	0	3	0	1	0	3	2	1	0	8	6			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:141856769G>A	ENST00000522684.1	-	6	688	c.459C>T	c.(457-459)agC>agT	p.S153S	PTK2_ENST00000395218.2_Silent_p.S153S|PTK2_ENST00000517887.1_Silent_p.S197S|PTK2_ENST00000521059.1_Silent_p.S153S|PTK2_ENST00000519419.1_Silent_p.S197S|PTK2_ENST00000535192.1_Silent_p.S153S|PTK2_ENST00000340930.3_Silent_p.S153S	NM_153831.3	NP_722560.1	Q05397	FAK1_HUMAN	protein tyrosine kinase 2	153	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell motility (GO:0048870)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|central nervous system neuron axonogenesis (GO:0021955)|embryo development (GO:0009790)|endothelial cell migration (GO:0043542)|ephrin receptor signaling pathway (GO:0048013)|establishment of cell polarity (GO:0030010)|establishment of nucleus localization (GO:0040023)|extracellular matrix organization (GO:0030198)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|growth hormone receptor signaling pathway (GO:0060396)|heart morphogenesis (GO:0003007)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|microtubule cytoskeleton organization (GO:0000226)|negative regulation of anoikis (GO:2000811)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of organ growth (GO:0046621)|negative regulation of synapse assembly (GO:0051964)|netrin-activated signaling pathway (GO:0038007)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|placenta development (GO:0001890)|platelet activation (GO:0030168)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|protein autophosphorylation (GO:0046777)|regulation of cell adhesion mediated by integrin (GO:0033628)|regulation of cell proliferation (GO:0042127)|regulation of cell shape (GO:0008360)|regulation of cytoskeleton organization (GO:0051493)|regulation of endothelial cell migration (GO:0010594)|regulation of focal adhesion assembly (GO:0051893)|regulation of osteoblast differentiation (GO:0045667)|regulation of Rho GTPase activity (GO:0032319)|signal complex assembly (GO:0007172)|transforming growth factor beta receptor signaling pathway (GO:0007179)|vasculogenesis (GO:0001570)	apical plasma membrane (GO:0016324)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|stress fiber (GO:0001725)	actin binding (GO:0003779)|ATP binding (GO:0005524)|JUN kinase binding (GO:0008432)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|SH2 domain binding (GO:0042169)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(6)|lung(23)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	48	all_cancers(97;1.05e-15)|all_epithelial(106;2.09e-14)|Lung NSC(106;1.61e-06)|all_lung(105;2.5e-06)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;2.72e-05)|Breast(495;0.159)	BRCA - Breast invasive adenocarcinoma(115;0.137)			ACATATAATCGCTCTTCACCT	0.338																																						ENST00000522684.1																			0				breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(6)|lung(23)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	48						c.(457-459)agC>agT		protein tyrosine kinase 2							97	91	93					8																	141856769		2203	4300	6503	SO:0001819	synonymous_variant	5747				axon guidance|blood coagulation|cellular component disassembly involved in apoptosis|ephrin receptor signaling pathway|growth hormone receptor signaling pathway|integrin-mediated signaling pathway|peptidyl-tyrosine phosphorylation|protein autophosphorylation|regulation of cell adhesion mediated by integrin|signal complex assembly	cytoskeleton|cytosol|focal adhesion	ATP binding|JUN kinase binding|non-membrane spanning protein tyrosine kinase activity|SH2 domain binding|signal transducer activity	g.chr8:141856769G>A	L13616	CCDS6381.1, CCDS56557.1	8q24.3	2013-02-18	2013-02-18		ENSG00000169398	ENSG00000169398	2.7.10.1	"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	9611	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 71"	600758	"PTK2 protein tyrosine kinase 2"			8422239	Standard	NM_153831		Approved	FAK, FADK, FAK1, PPP1R71	uc003yvt.3	Q05397	OTTHUMG00000067438	ENST00000522684.1:c.459C>T	8.37:g.141856769G>A						PTK2_ENST00000340930.3_Silent_p.S153S|PTK2_ENST00000521059.1_Silent_p.S153S|PTK2_ENST00000517887.1_Silent_p.S197S|PTK2_ENST00000519419.1_Silent_p.S197S|PTK2_ENST00000535192.1_Silent_p.S153S|PTK2_ENST00000395218.2_Silent_p.S153S	p.S153S	NM_153831.3	NP_722560.1	Q05397	FAK1_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.137)		6	688	-	all_cancers(97;1.05e-15)|all_epithelial(106;2.09e-14)|Lung NSC(106;1.61e-06)|all_lung(105;2.5e-06)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;2.72e-05)|Breast(495;0.159)	153			FERM.		B4E2N6|F5H4S4|Q14291|Q9UD85	Silent	SNP	ENST00000522684.1	37	c.459C>T	CCDS6381.1	.	.	.	.	.	.	.	.	.	.	G	9.816	1.184433	0.21870	.	.	ENSG00000169398	ENST00000519654	.	.	.	5.45	-7.9	0.01169	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.074	0.72063	0.5039:0.0:0.4961:0.0	.	.	.	.	X	164	.	.	R	-	1	2	PTK2	141925951	0.545000	0.26449	0.958000	0.39756	0.911000	0.54048	-0.157000	0.10085	-1.014000	0.03379	-1.056000	0.02311	CGA		0.338	PTK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378054.5	NM_005607		10	30	0	0	0	1	0	10	30					A	141856769	G	A	141856769	2	1	435	1	0	0	0	0	0	0	0	1	12762	1078	38	1		1	PTK2	8	141856769	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	57184	141856769	4507253	4158	25083											
SLC45A4	57210	broad.mit.edu	37	chr8	142231719	142231719	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtgcaacgccaaagaggacGccaacgcagagggcgaggat	14	2	15	10	4	0	2	0	0	0	2	0	5	0	4	2	3	3	2	2	3	3	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:142231719G>A	ENST00000024061.3	-	2	541	c.234C>T	c.(232-234)ggC>ggT	p.G78G	SLC45A4_ENST00000433583.2_Silent_p.G71G|SLC45A4_ENST00000517878.1_Silent_p.G129G|SLC45A4_ENST00000519067.1_Silent_p.G78G	NM_001080431.1	NP_001073900.1	Q5BKX6	S45A4_HUMAN	solute carrier family 45, member 4						transport (GO:0006810)	integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31	all_cancers(97;1.52e-15)|all_epithelial(106;2.92e-14)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0493)			CAAAGAGGACGCCAACGCAGA	0.622																																						ENST00000519067.1																			0				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31						c.(232-234)ggC>ggT		solute carrier family 45, member 4							73	81	78					8																	142231719		2203	4300	6503	SO:0001819	synonymous_variant	57210				transport	integral to membrane		g.chr8:142231719G>A	AB032952	CCDS34948.1, CCDS69550.1, CCDS75795.1	8q24.3	2013-05-22						"Solute carriers"	29196	protein-coding gene	gene with protein product							Standard	NM_001080431		Approved	KIAA1126	uc003ywd.1	Q5BKX6		ENST00000024061.3:c.234C>T	8.37:g.142231719G>A						SLC45A4_ENST00000433583.2_Silent_p.G71G|SLC45A4_ENST00000024061.3_Silent_p.G78G|SLC45A4_ENST00000517878.1_Silent_p.G129G	p.G78G			Q5BKX6	S45A4_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0493)		2	537	-	all_cancers(97;1.52e-15)|all_epithelial(106;2.92e-14)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		129					Q6ZRI2|Q9ULU3	Silent	SNP	ENST00000024061.3	37	c.234C>T	CCDS34948.1																																																																																				0.622	SLC45A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378571.3	XM_050325		27	37	0	0	0	1	0	27	37					A	142231719	G	A	142231719	2	1	435	1	0	0	0	0	0	0	0	1	14643	1074	38	1		1	SLC45A4	8	142231719	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	374950	142231719	4132303	4159	25084											
GPR20	2843	broad.mit.edu	37	chr8	142367678	142367678	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acagcgcaggcagcccctggCgccgtagtacacagcgaagc	10	3	13	15	4	0	0	0	0	0	0	0	1	0	0	3	2	5	4	3	2	3	2	rs200601490		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:142367678C>T	ENST00000377741.3	-	2	436	c.346G>A	c.(346-348)Gcc>Acc	p.A116T	CTD-3064M3.3_ENST00000562459.1_RNA	NM_005293.2	NP_005284.2	Q99678	GPR20_HUMAN	G protein-coupled receptor 20	116					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	G-protein coupled receptor activity (GO:0004930)			NS(1)|endometrium(3)|lung(4)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	15	all_cancers(97;4.32e-16)|all_epithelial(106;6.61e-14)|Lung NSC(106;9.4e-06)|all_lung(105;1.35e-05)|Ovarian(258;0.0303)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0415)			CAGCCCCTGGCGCCGTAGTAC	0.617																																						ENST00000377741.3																			0				NS(1)|endometrium(3)|lung(4)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	15						c.(346-348)Gcc>Acc		G protein-coupled receptor 20		C	THR/ALA	0,4406		0,0,2203	87	90	89		346	-2	0	8		89	2,8598	2.2+/-6.3	0,2,4298	yes	missense	GPR20	NM_005293.2	58	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	benign	116/359	142367678	2,13004	2203	4300	6503	SO:0001583	missense	2843					integral to plasma membrane	G-protein coupled receptor activity	g.chr8:142367678C>T	U66579	CCDS34949.1	8q24.3	2012-08-21				ENSG00000204882		"GPCR / Class A : Orphans"	4475	protein-coding gene	gene with protein product		601908				18347022	Standard	NM_005293		Approved		uc003ywf.3	Q99678		ENST00000377741.3:c.346G>A	8.37:g.142367678C>T	ENSP00000366970:p.Ala116Thr						p.A116T	NM_005293.2	NP_005284.2	Q99678	GPR20_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0415)		2	436	-	all_cancers(97;4.32e-16)|all_epithelial(106;6.61e-14)|Lung NSC(106;9.4e-06)|all_lung(105;1.35e-05)|Ovarian(258;0.0303)|Acute lymphoblastic leukemia(118;0.155)		116					Q17R96	Missense_Mutation	SNP	ENST00000377741.3	37	c.346G>A	CCDS34949.1	.	.	.	.	.	.	.	.	.	.	C	1.481	-0.557305	0.03967	0.0	2.33E-4	ENSG00000204882	ENST00000377741	T	0.37058	1.22	4.62	-1.95	0.07548	GPCR, rhodopsin-like superfamily (1);	0.396203	0.24985	N	0.034040	T	0.19725	0.0474	N	0.20766	0.605	0.09310	N	1	B	0.15141	0.012	B	0.15052	0.012	T	0.22836	-1.0205	10	0.19147	T	0.46	-5.8539	12.6898	0.56968	0.0:0.7369:0.0:0.2631	.	116	Q99678	GPR20_HUMAN	T	116	ENSP00000366970:A116T	ENSP00000366970:A116T	A	-	1	0	GPR20	142436860	0.071000	0.21146	0.000000	0.03702	0.003000	0.03518	0.207000	0.17395	-0.279000	0.09167	-0.291000	0.09656	GCC		0.617	GPR20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378968.1	NM_005293		21	20	0	0	0	1	0	21	20					T	142367678	C	T	142367678	3	4	435	1	0	0	0	0	1	0	0	0	6680	768	27	1	734	1	GPR20	8	142367678	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	135959	142367678	3996344	4160	25085											
FLJ43860	389690	broad.mit.edu	37	chr8	142486189	142486189	+	RNA	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tggcagggcaaacacgctgcGgaagcaggtggacaggagct	11	4	17	9	2	0	0	0	0	0	0	0	3	0	3	0	6	4	5	0	6	2	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:142486189G>T	ENST00000430863.1	-	0	1584					NM_207414.2	NP_997297.2	Q6ZUA9	MROH5_HUMAN	maestro heat-like repeat family member 5																		AACACGCTGCGGAAGCAGGTG	0.617																																						ENST00000430863.1																			0													maestro heat-like repeat family member 5							19	25	23					8																	142486189		2040	4196	6236			389690							g.chr8:142486189G>T			8q24.3	2012-12-20			ENSG00000226807	ENSG00000226807		"maestro heat-like repeat containing"	42976	protein-coding gene	gene with protein product							Standard	NM_207414		Approved	FLJ43860	uc003ywi.2	Q6ZUA9	OTTHUMG00000155944		8.37:g.142486189G>T								NM_207414.2	NP_997297.2					0	1584	-									RNA	SNP	ENST00000430863.1	37																																																																																						0.617	MROH5-001	KNOWN	non_canonical_polymorphism|basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000342412.4	NM_207414		5	6	1	0	0.184627	1	0.185007	5	6					T	142486189	G	T	142486189	1	4	435	0	1	0	0	0	0	0	0	0	5930	1116	39	5		5	FLJ43860	8	142486189	RNA	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	118511	142486189	3877833	4161	25086											
BAI1	575	broad.mit.edu	37	chr8	143618432	143618432	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctccttccagaacggccacGcccagctcatggtaggactc	8	7	10	16	2	1	1	1	0	0	1	4	2	3	2	4	3	2	3	4	3	2	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:143618432G>A	ENST00000517894.1	+	26	4549	c.3655G>A	c.(3655-3657)Gcc>Acc	p.A1219T	BAI1_ENST00000323289.5_Missense_Mutation_p.A1219T			O14514	BAI1_HUMAN	brain-specific angiogenesis inhibitor 1	1219					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell proliferation (GO:0008285)|neuropeptide signaling pathway (GO:0007218)|peripheral nervous system development (GO:0007422)|signal transduction (GO:0007165)	cell-cell junction (GO:0005911)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(28)|ovary(4)|pancreas(1)|prostate(7)	57	all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					GAACGGCCACGCCCAGCTCAT	0.687																																						ENST00000517894.1																			0				NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(28)|ovary(4)|pancreas(1)|prostate(7)	57						c.(3655-3657)Gcc>Acc		brain-specific angiogenesis inhibitor 1							24	32	29					8																	143618432		2073	4197	6270	SO:0001583	missense	575				axonogenesis|cell adhesion|negative regulation of angiogenesis|negative regulation of cell proliferation|neuropeptide signaling pathway|peripheral nervous system development	cell-cell junction|integral to plasma membrane	G-protein coupled receptor activity|protein binding	g.chr8:143618432G>A	AB005297	CCDS64985.1	8q24.3	2014-08-08			ENSG00000181790	ENSG00000181790		"-", "GPCR / Class B : Orphans"	943	protein-coding gene	gene with protein product		602682				9533023	Standard	NM_001702		Approved		uc003ywm.3	O14514	OTTHUMG00000164732	ENST00000517894.1:c.3655G>A	8.37:g.143618432G>A	ENSP00000430945:p.Ala1219Thr					BAI1_ENST00000323289.5_Missense_Mutation_p.A1219T	p.A1219T			O14514	BAI1_HUMAN			26	4549	+	all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)		1219						Missense_Mutation	SNP	ENST00000517894.1	37	c.3655G>A		.	.	.	.	.	.	.	.	.	.	g	11.54	1.670284	0.29693	.	.	ENSG00000181790	ENST00000517894;ENST00000323289	T;T	0.29917	1.55;1.55	3.63	3.63	0.41609	.	0.076294	0.51477	U	0.000084	T	0.20577	0.0495	L	0.41710	1.295	0.42449	D	0.99274	P	0.34743	0.466	B	0.16722	0.016	T	0.07121	-1.0789	10	0.19147	T	0.46	.	14.293	0.66292	0.0:0.0:1.0:0.0	.	1219	E9PBK0	.	T	1219	ENSP00000430945:A1219T;ENSP00000313046:A1219T	ENSP00000313046:A1219T	A	+	1	0	BAI1	143615434	1.000000	0.71417	0.992000	0.48379	0.213000	0.24496	3.689000	0.54706	1.577000	0.49804	0.306000	0.20318	GCC		0.687	BAI1-001	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000379963.3	NM_001702		7	5	0	0	0	1	0	7	5					A	143618432	G	A	143618432	3	1	435	1	0	0	0	0	1	0	0	0	1298	1087	38	1	3753	1	BAI1	8	143618432	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	1132243	143618432	2745590	4162	25087											
PSCA	8000	broad.mit.edu	37	chr8	143762788	143762788	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgcaaagcccaggtgagcaaCgaggactgcctgcaggtgga	11	5	15	10	1	0	1	0	1	0	0	0	4	0	3	2	4	6	3	2	4	2	0	rs587715539		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:143762788C>T	ENST00000301258.4	+	2	152	c.69C>T	c.(67-69)aaC>aaT	p.N23N	PSCA_ENST00000513264.1_Silent_p.N23N|PSCA_ENST00000505305.1_3'UTR	NM_005672.4	NP_005663.2	O43653	PSCA_HUMAN	prostate stem cell antigen	32	UPAR/Ly6.					anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)				endometrium(1)|large_intestine(1)	2	all_cancers(97;3.96e-12)|all_epithelial(106;1.19e-08)|Lung NSC(106;0.000413)|all_lung(105;0.00106)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)					AGGTGAGCAACGAGGACTGCC	0.667													C|||	1	0.000199681	0	0	5008	,	,		16597	0.001		0	False		,,,				2504	0					ENST00000301258.4																			0				endometrium(1)|large_intestine(1)	2						c.(67-69)aaC>aaT		prostate stem cell antigen							16	20	18					8																	143762788		2063	4200	6263	SO:0001819	synonymous_variant	8000							g.chr8:143762788C>T	AF043498	CCDS47925.1, CCDS47925.2	8q24.2	2004-02-03				ENSG00000167653			9500	protein-coding gene	gene with protein product		602470				9465086	Standard	NM_005672		Approved		uc022bcd.1	O43653		ENST00000301258.4:c.69C>T	8.37:g.143762788C>T						PSCA_ENST00000505305.1_3'UTR|PSCA_ENST00000513264.1_Silent_p.N23N	p.N23N	NM_005672.4	NP_005663.2	D3DWI6	D3DWI6_HUMAN			2	152	+	all_cancers(97;3.96e-12)|all_epithelial(106;1.19e-08)|Lung NSC(106;0.000413)|all_lung(105;0.00106)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)		23					Q6UW92	Silent	SNP	ENST00000301258.4	37	c.69C>T	CCDS47925.2																																																																																				0.667	PSCA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367112.2	NM_005672		5	7	0	0	0	1	0	5	7					T	143762788	C	T	143762788	2	4	435	1	0	0	0	0	0	0	0	1	12645	535	19	1		1	PSCA	8	143762788	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	144356	143762788	2601234	4163	25088											
LY6D	8581	broad.mit.edu	37	chr8	143866833	143866833	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agctgggtgtgcacgactccGcacagtccttcttcaccaga	8	9	10	14	2	2	1	1	0	1	1	4	2	4	1	3	1	2	3	3	1	0	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:143866833G>A	ENST00000301263.4	-	3	266	c.191C>T	c.(190-192)gCg>gTg	p.A64V	RP11-706C16.8_ENST00000510610.2_RNA|LY6D_ENST00000518434.1_5'UTR	NM_003695.2	NP_003686.1	Q14210	LY6D_HUMAN	lymphocyte antigen 6 complex, locus D	64	UPAR/Ly6.				cell adhesion (GO:0007155)|lymphocyte differentiation (GO:0030098)|response to stilbenoid (GO:0035634)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|membrane (GO:0016020)|plasma membrane (GO:0005886)				large_intestine(1)|lung(3)|prostate(1)	5	all_cancers(97;3.96e-12)|all_epithelial(106;1.19e-08)|Lung NSC(106;0.000413)|all_lung(105;0.00106)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)					GCACGACTCCGCACAGTCCTT	0.642																																						ENST00000301263.4																			0				large_intestine(1)|lung(3)|prostate(1)	5						c.(190-192)gCg>gTg		lymphocyte antigen 6 complex, locus D							68	59	62					8																	143866833		2203	4300	6503	SO:0001583	missense	8581				cell adhesion	anchored to membrane|membrane fraction|plasma membrane	protein binding	g.chr8:143866833G>A	U66837	CCDS6390.1	8q24	2004-07-06			ENSG00000167656	ENSG00000167656			13348	protein-coding gene	gene with protein product		606204				7790363, 9551972	Standard	NM_003695		Approved	E48	uc003yxf.1	Q14210	OTTHUMG00000164693	ENST00000301263.4:c.191C>T	8.37:g.143866833G>A	ENSP00000301263:p.Ala64Val					RP11-706C16.8_ENST00000510610.2_RNA|LY6D_ENST00000518434.1_5'UTR	p.A64V	NM_003695.2	NP_003686.1	Q14210	LY6D_HUMAN			3	266	-	all_cancers(97;3.96e-12)|all_epithelial(106;1.19e-08)|Lung NSC(106;0.000413)|all_lung(105;0.00106)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)		64			UPAR/Ly6.		B2R5F1|D3DWJ0|O43783|Q6GTV9|Q8TBD4|Q92933	Missense_Mutation	SNP	ENST00000301263.4	37	c.191C>T	CCDS6390.1	.	.	.	.	.	.	.	.	.	.	g	4.324	0.059563	0.08339	.	.	ENSG00000167656	ENST00000301263	T	0.71103	-0.54	3.14	-5.45	0.02616	Ly-6 antigen / uPA receptor -like (1);CD59 antigen, conserved site (1);CD59 antigen (1);	0.568970	0.13390	N	0.391507	T	0.34106	0.0886	N	0.04508	-0.205	0.09310	N	1	B	0.12630	0.006	B	0.06405	0.002	T	0.42749	-0.9433	10	0.02654	T	1	-3.3817	6.5761	0.22567	0.1635:0.0:0.7024:0.1341	.	64	Q14210	LY6D_HUMAN	V	64	ENSP00000301263:A64V	ENSP00000301263:A64V	A	-	2	0	LY6D	143863835	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-1.868000	0.01644	-1.119000	0.02958	-1.244000	0.01528	GCG		0.642	LY6D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379774.1	NM_003695		7	16	0	0	0	1	0	7	16					A	143866833	G	A	143866833	3	1	435	1	0	0	0	0	1	0	0	0	9090	1087	38	1	199	1	LY6D	8	143866833	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	104045	143866833	2497189	4164	25089											
LY6H	4062	broad.mit.edu	37	chr8	144239899	144239899	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgttcaccgagtgatccttcCtgcctgggaagagaaagcgt	9	10	12	10	2	1	2	1	1	0	1	3	5	3	3	4	1	2	1	4	1	2	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:144239899C>A	ENST00000430474.2	-	4	356	c.191G>T	c.(190-192)aGg>aTg	p.R64M	LY6H_ENST00000342752.4_Missense_Mutation_p.R85M|LY6H_ENST00000414417.2_Missense_Mutation_p.R85M	NM_002347.4	NP_002338.3	O94772	LY6H_HUMAN	lymphocyte antigen 6 complex, locus H	64	UPAR/Ly6.				nervous system development (GO:0007399)|organ morphogenesis (GO:0009887)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				endometrium(1)|lung(1)|stomach(2)	4	all_cancers(97;6.49e-11)|all_epithelial(106;2.77e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)					GTGATCCTTCCTGCCTGGGAA	0.592																																						ENST00000414417.2																			0				endometrium(1)|lung(1)|stomach(2)	4						c.(253-255)aGg>aTg		lymphocyte antigen 6 complex, locus H							76	72	73					8																	144239899		2203	4300	6503	SO:0001583	missense	4062				nervous system development|organ morphogenesis	anchored to membrane|plasma membrane		g.chr8:144239899C>A	AB012293	CCDS6396.1, CCDS47926.1	8q24.3	2008-08-01			ENSG00000176956	ENSG00000176956			6728	protein-coding gene	gene with protein product		603625				9799603	Standard	NM_001130478		Approved	NMLY6	uc011lkb.2	O94772	OTTHUMG00000154890	ENST00000430474.2:c.191G>T	8.37:g.144239899C>A	ENSP00000409899:p.Arg64Met					LY6H_ENST00000342752.4_Missense_Mutation_p.R85M|LY6H_ENST00000430474.2_Missense_Mutation_p.R64M	p.R85M	NM_001130478.1	NP_001123950.1	O94772	LY6H_HUMAN			5	487	-	all_cancers(97;6.49e-11)|all_epithelial(106;2.77e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)		64			UPAR/Ly6.		B2RAD2|J3KQI0|Q6IAX0	Missense_Mutation	SNP	ENST00000430474.2	37	c.254G>T	CCDS6396.1	.	.	.	.	.	.	.	.	.	.	c	15.03	2.711526	0.48517	.	.	ENSG00000176956	ENST00000430474;ENST00000342752;ENST00000414417	T;T;T	0.69806	-0.43;-0.43;-0.43	3.38	2.5	0.30297	Ly-6 antigen / uPA receptor -like (1);CD59 antigen (1);	0.000000	0.52532	D	0.000073	T	0.58680	0.2139	N	0.08118	0	0.36756	D	0.883022	D	0.65815	0.995	D	0.65684	0.937	T	0.64757	-0.6332	10	0.56958	D	0.05	-10.7172	6.706	0.23250	0.0:0.8686:0.0:0.1314	.	64	O94772	LY6H_HUMAN	M	64;85;85	ENSP00000409899:R64M;ENSP00000342711:R85M;ENSP00000399485:R85M	ENSP00000342711:R85M	R	-	2	0	LY6H	144311274	1.000000	0.71417	1.000000	0.80357	0.856000	0.48823	3.017000	0.49615	1.007000	0.39238	0.511000	0.50034	AGG		0.592	LY6H-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337535.1			3	28	1	0	0.115264	1	0.115739	3	28					A	144239899	C	A	144239899	3	1	435	1	0	0	0	0	1	0	0	0	9097	681	24	5	235	5	LY6H	8	144239899	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	373066	144239899	2124123	4165	25090											
ZC3H3	23144	broad.mit.edu	37	chr8	144620919	144620919	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgggggctgtcgcccacactGcccactgacttcaccatcct	6	8	9	18	2	1	1	1	1	0	0	3	1	2	1	4	2	1	1	4	2	0	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:144620919G>A	ENST00000262577.5	-	2	649	c.618C>T	c.(616-618)ggC>ggT	p.G206G		NM_015117.2	NP_055932.2	Q8IXZ2	ZC3H3_HUMAN	zinc finger CCCH-type containing 3	206					mRNA polyadenylation (GO:0006378)|poly(A)+ mRNA export from nucleus (GO:0016973)|regulation of mRNA export from nucleus (GO:0010793)	nucleus (GO:0005634)	metal ion binding (GO:0046872)			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	23	all_cancers(97;8.64e-11)|all_epithelial(106;6.43e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.107)			CGCCCACACTGCCCACTGACT	0.642																																						ENST00000262577.5																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	23						c.(616-618)ggC>ggT		zinc finger CCCH-type containing 3							28	25	26					8																	144620919		2199	4297	6496	SO:0001819	synonymous_variant	23144				mRNA polyadenylation|poly(A)+ mRNA export from nucleus|regulation of mRNA export from nucleus	nucleus	nucleic acid binding|zinc ion binding	g.chr8:144620919G>A	D63484	CCDS6402.1	8q24.3	2012-07-05	2005-06-02	2005-06-02	ENSG00000014164	ENSG00000014164		"Zinc fingers, CCCH-type domain containing"	28972	protein-coding gene	gene with protein product			"zinc finger CCCH-type domain containing 3"	ZC3HDC3		8590280	Standard	NM_015117		Approved	KIAA0150	uc003yyd.2	Q8IXZ2	OTTHUMG00000165127	ENST00000262577.5:c.618C>T	8.37:g.144620919G>A							p.G206G	NM_015117.2	NP_055932.2	Q8IXZ2	ZC3H3_HUMAN	Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.107)		2	649	-	all_cancers(97;8.64e-11)|all_epithelial(106;6.43e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		206					Q14163|Q8N4E2|Q9BUS4	Silent	SNP	ENST00000262577.5	37	c.618C>T	CCDS6402.1																																																																																				0.642	ZC3H3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382011.2	NM_015117		5	13	0	0	0	1	0	5	13					A	144620919	G	A	144620919	2	1	435	1	0	0	0	0	0	0	0	1	17566	1306	46	3		3	ZC3H3	8	144620919	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	381020	144620919	1743103	4166	25091											
C8orf73	642475	broad.mit.edu	37	chr8	144654782	144654782	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tgcggaagggggtccctgggGctgcccctgcctggcccgga	3	6	18	14	2	0	0	0	0	0	0	1	2	1	2	5	7	3	1	5	7	1	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:144654782G>A	ENST00000398882.3	-	1	359	c.103C>T	c.(103-105)Ccc>Tcc	p.P35S	MROH6_ENST00000533679.1_5'Flank|NAPRT1_ENST00000460623.1_5'Flank|RP11-661A12.9_ENST00000531730.1_RNA	NM_001100878.1	NP_001094348.1	A6NGR9	MROH6_HUMAN	maestro heat-like repeat family member 6	35																	GGTCCCTGGGGCTGCCCCTGC	0.706																																						ENST00000398882.3																			0											c.(103-105)Ccc>Tcc		maestro heat-like repeat family member 6							10	13	12					8																	144654782		1876	4088	5964	SO:0001583	missense	642475							g.chr8:144654782G>A	AF289596	CCDS47928.1	8q24.3	2012-12-19	2012-12-19	2012-12-19	ENSG00000204839	ENSG00000204839		"maestro heat-like repeat containing"	27814	protein-coding gene	gene with protein product			"chromosome 8 open reading frame 73"	C8orf73		12477932	Standard	NM_001100878		Approved		uc010mff.3	A6NGR9	OTTHUMG00000165164	ENST00000398882.3:c.103C>T	8.37:g.144654782G>A	ENSP00000381857:p.Pro35Ser						p.P35S	NM_001100878.1	NP_001094348.1					1	359	-								A8MWB1	Missense_Mutation	SNP	ENST00000398882.3	37	c.103C>T	CCDS47928.1	.	.	.	.	.	.	.	.	.	.	g	10.93	1.489225	0.26686	.	.	ENSG00000204839	ENST00000398882;ENST00000529971	T;T	0.28069	3.81;1.63	4.66	-2.38	0.06622	.	.	.	.	.	T	0.10981	0.0268	N	0.08118	0	0.19775	N	0.999952	B;B	0.12013	0.005;0.0	B;B	0.10450	0.005;0.002	T	0.27571	-1.0070	9	0.20046	T	0.44	-13.4725	1.1474	0.01778	0.1583:0.2497:0.3051:0.2869	.	35;35	E9PPP7;A6NGR9	.;CH073_HUMAN	S	35	ENSP00000381857:P35S;ENSP00000436959:P35S	ENSP00000381857:P35S	P	-	1	0	C8orf73	144725925	0.012000	0.17670	0.003000	0.11579	0.038000	0.13279	0.957000	0.29215	-0.850000	0.04152	-1.024000	0.02432	CCC		0.706	MROH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382330.3	NM_001100878		4	6	0	0	0	1	0	4	6					A	144654782	G	A	144654782	3	1	435	1	0	0	0	0	1	0	0	0	2435	1203	42	3	2112	3	C8orf73	8	144654782	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	33863	144654782	1709240	4167	25092											
NAPRT1	1936	broad.mit.edu	37	chr8	144659250	144659250	+	IGR	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	accgggtcagggggcacctcGctgcctgaaaaggaagtgac	10	5	15	11	2	1	2	1	2	0	0	2	3	1	3	3	4	1	2	3	4	3	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:144659250G>A	ENST00000529272.1	-	0	1311				NAPRT1_ENST00000276844.7_Silent_p.S222S|NAPRT1_ENST00000426292.3_Silent_p.S222S|NAPRT1_ENST00000449291.2_Silent_p.S222S|NAPRT1_ENST00000435154.3_Silent_p.S222S|NAPRT1_ENST00000460623.1_5'Flank|RP11-661A12.9_ENST00000531730.1_RNA|RP11-661A12.7_ENST00000529247.1_RNA			P29692	EF1D_HUMAN	eukaryotic translation elongation factor 1 delta (guanine nucleotide exchange protein)						cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|translation (GO:0006412)|translational elongation (GO:0006414)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|eukaryotic translation elongation factor 1 complex (GO:0005853)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|signal transducer activity (GO:0004871)|translation elongation factor activity (GO:0003746)|translation factor activity, nucleic acid binding (GO:0008135)			breast(2)|cervix(1)|endometrium(1)|kidney(4)|lung(2)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239)			GGGGCACCTCGCTGCCTGAAA	0.672																																						ENST00000449291.2																			0				endometrium(1)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	6						c.(664-666)agC>agT		nicotinate phosphoribosyltransferase domain containing 1							40	44	42					8																	144659250		2200	4300	6500	SO:0001628	intergenic_variant	93100				nicotinamide metabolic process|nicotinate nucleotide salvage|response to oxidative stress|water-soluble vitamin metabolic process	cytosol|Golgi apparatus|nucleus	nicotinate phosphoribosyltransferase activity|nicotinate-nucleotide diphosphorylase (carboxylating) activity	g.chr8:144659250G>A	AK024550	CCDS6404.1, CCDS6405.1, CCDS47930.1, CCDS56559.1	8q24	2011-09-15			ENSG00000104529	ENSG00000104529			3211	protein-coding gene	gene with protein product		130592				8334168	Standard	NM_001960		Approved	EF-1D, FLJ20897	uc003yyt.3	P29692	OTTHUMG00000165191		8.37:g.144659250G>A						NAPRT1_ENST00000276844.7_Silent_p.S222S|NAPRT1_ENST00000435154.3_Silent_p.S222S|RP11-661A12.9_ENST00000531730.1_RNA|NAPRT1_ENST00000426292.3_Silent_p.S222S	p.S222S			Q6XQN6	PNCB_HUMAN	Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.146)		5	960	-	all_cancers(97;6.49e-11)|all_epithelial(106;4.73e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.014)|Acute lymphoblastic leukemia(118;0.155)		222					B4DDU4|D3DWK3|E9PBQ9|Q4VBZ6|Q969J1|Q96I38	Silent	SNP	ENST00000529272.1	37	c.666C>T	CCDS6405.1																																																																																				0.672	EEF1D-006	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382592.2	NM_032378		13	13	0	0	0	1	0	13	13					A	144659250	G	A	144659250	1	1	435	0	1	0	0	0	0	0	0	0	10165	1078	38	1		1	NAPRT1	8	144659250	IGR	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	4468	144659250	1704772	4168	25093											
EEF1D	1936	broad.mit.edu	37	chr8	144672148	144672148	+	Intron	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgctgggcggaggcggccGcctgtgtggcctcgtgttcg	1	9	19	12	5	0	0	0	0	0	0	2	1	0	1	3	5	1	3	3	5	0	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:144672148G>A	ENST00000529272.1	-	2	397				EEF1D_ENST00000531770.1_5'Flank|EEF1D_ENST00000528610.1_Intron|EEF1D_ENST00000524624.1_Intron|EEF1D_ENST00000532741.1_Missense_Mutation_p.A85V|EEF1D_ENST00000531621.1_Intron|EEF1D_ENST00000442189.2_Missense_Mutation_p.A35V|EEF1D_ENST00000395119.3_Intron|EEF1D_ENST00000526838.1_Intron|EEF1D_ENST00000317198.6_Intron|EEF1D_ENST00000532400.1_Intron|EEF1D_ENST00000419152.2_Intron|EEF1D_ENST00000423316.2_Missense_Mutation_p.A35V			P29692	EF1D_HUMAN	eukaryotic translation elongation factor 1 delta (guanine nucleotide exchange protein)						cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|translation (GO:0006412)|translational elongation (GO:0006414)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|eukaryotic translation elongation factor 1 complex (GO:0005853)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|signal transducer activity (GO:0004871)|translation elongation factor activity (GO:0003746)|translation factor activity, nucleic acid binding (GO:0008135)			breast(2)|cervix(1)|endometrium(1)|kidney(4)|lung(2)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239)			GGAGGCGGCCGCCTGTGTGGC	0.687																																						ENST00000532741.1																			0				breast(2)|cervix(1)|endometrium(1)|kidney(4)|lung(2)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14						c.(253-255)gCg>gTg		eukaryotic translation elongation factor 1 delta (guanine nucleotide exchange protein)							18	20	19					8																	144672148		2201	4299	6500	SO:0001627	intron_variant	1936				positive regulation of I-kappaB kinase/NF-kappaB cascade	cytosol|eukaryotic translation elongation factor 1 complex	protein binding|signal transducer activity|translation elongation factor activity	g.chr8:144672148G>A	AK024550	CCDS6404.1, CCDS6405.1, CCDS47930.1, CCDS56559.1	8q24	2011-09-15			ENSG00000104529	ENSG00000104529			3211	protein-coding gene	gene with protein product		130592				8334168	Standard	NM_001960		Approved	EF-1D, FLJ20897	uc003yyt.3	P29692	OTTHUMG00000165191	ENST00000529272.1:c.4-3129C>T	8.37:g.144672148G>A						EEF1D_ENST00000317198.6_Intron|EEF1D_ENST00000442189.2_Missense_Mutation_p.A35V|EEF1D_ENST00000395119.3_Intron|EEF1D_ENST00000526838.1_Intron|EEF1D_ENST00000423316.2_Missense_Mutation_p.A35V|EEF1D_ENST00000524624.1_Intron|EEF1D_ENST00000532400.1_Intron|EEF1D_ENST00000419152.2_Intron|EEF1D_ENST00000531621.1_Intron|EEF1D_ENST00000529272.1_Intron|EEF1D_ENST00000528610.1_Intron	p.A85V			P29692	EF1D_HUMAN	Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239)		1	482	-	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		33					B4DDU4|D3DWK3|E9PBQ9|Q4VBZ6|Q969J1|Q96I38	Missense_Mutation	SNP	ENST00000529272.1	37	c.254C>T	CCDS6405.1	.	.	.	.	.	.	.	.	.	.	G	11.49	1.653372	0.29425	.	.	ENSG00000104529	ENST00000532741;ENST00000442189;ENST00000423316;ENST00000337369;ENST00000526710;ENST00000531281;ENST00000532596;ENST00000524883;ENST00000531670;ENST00000528519;ENST00000529832;ENST00000530306;ENST00000530545;ENST00000525261;ENST00000534804;ENST00000524900;ENST00000526135;ENST00000531953;ENST00000526133	.	.	.	5.31	2.46	0.29980	.	0.000000	0.41001	D	0.000980	T	0.42223	0.1193	L	0.32530	0.975	0.45129	D	0.998144	B;B;B	0.21520	0.008;0.057;0.056	B;B;B	0.17979	0.006;0.009;0.02	T	0.18713	-1.0328	9	0.48119	T	0.1	.	7.6395	0.28286	0.1539:0.1359:0.7102:0.0	.	35;85;35	D3DWK1;E9PRY8;P29692-2	.;.;.	V	85;35;35;35;35;35;35;35;35;35;35;35;35;35;35;35;35;35;35	.	ENSP00000338323:A35V	A	-	2	0	EEF1D	144743291	0.946000	0.32159	0.032000	0.17829	0.061000	0.15899	3.178000	0.50879	0.207000	0.20607	0.555000	0.69702	GCG		0.687	EEF1D-006	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382592.2	NM_032378		6	21	0	0	0	1	0	6	21					A	144672148	G	A	144672148	1	1	435	0	1	0	0	0	0	0	0	0	4926	1087	38	1		1	EEF1D	8	144672148	Intron	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	12898	144672148	1691874	4169	25094											
PYCRL	65263	broad.mit.edu	37	chr8	144687917	144687917	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaggtggcagcctccacggCgctcatggtggctgctcgca	5	7	15	14	3	1	0	1	0	0	0	3	0	2	0	2	5	2	6	2	5	0	0	rs557266207		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:144687917C>T	ENST00000220966.6	-	6	843	c.814G>A	c.(814-816)Gcc>Acc	p.A272T	RP11-661A12.14_ENST00000606452.1_lincRNA|PYCRL_ENST00000495276.1_5'UTR|PYCRL_ENST00000377579.3_Missense_Mutation_p.A123T	NM_023078.3	NP_075566.2	Q53H96	P5CR3_HUMAN	pyrroline-5-carboxylate reductase-like	260					L-proline biosynthetic process (GO:0055129)		pyrroline-5-carboxylate reductase activity (GO:0004735)			central_nervous_system(1)|endometrium(1)|lung(2)|ovary(1)	5	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.17e-38)|Epithelial(56;7.17e-37)|all cancers(56;2.46e-32)|Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239)		L-Proline(DB00172)	GCCTCCACGGCGCTCATGGTG	0.682													C|||	1	0.000199681	0	0	5008	,	,		16007	0.001		0	False		,,,				2504	0					ENST00000220966.6																			0				central_nervous_system(1)|endometrium(1)|lung(2)|ovary(1)	5						c.(814-816)Gcc>Acc		pyrroline-5-carboxylate reductase-like							29	32	31					8																	144687917		2198	4297	6495	SO:0001583	missense	65263				proline biosynthetic process		pyrroline-5-carboxylate reductase activity	g.chr8:144687917C>T	AF086378	CCDS6407.2	8q24.3	2011-09-30	2011-09-30	2011-09-30	ENSG00000104524	ENSG00000104524			25846	protein-coding gene	gene with protein product							Standard	NM_023078		Approved	FLJ13852	uc003yyy.3	Q53H96	OTTHUMG00000157010	ENST00000220966.6:c.814G>A	8.37:g.144687917C>T	ENSP00000220966:p.Ala272Thr					PYCRL_ENST00000377579.3_Missense_Mutation_p.A123T|PYCRL_ENST00000495276.1_5'UTR	p.A272T	NM_023078.3	NP_075566.2	Q53H96	P5CR3_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;1.17e-38)|Epithelial(56;7.17e-37)|all cancers(56;2.46e-32)|Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239)		6	843	-	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		260					B3KMB5|B4DVT6|H0Y6C3|Q8N3N9|Q96HX4|Q9H896	Missense_Mutation	SNP	ENST00000220966.6	37	c.814G>A	CCDS6407.2	.	.	.	.	.	.	.	.	.	.	C	20.1	3.931520	0.73442	.	.	ENSG00000104524	ENST00000220966;ENST00000377579;ENST00000433751	D;D;D	0.89343	-2.5;-2.5;-2.5	5.0	5.0	0.66597	6-phosphogluconate dehydrogenase, C-terminal-like (1);	.	.	.	.	D	0.94118	0.8114	M	0.75884	2.315	0.58432	D	0.999997	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.94816	0.7983	9	0.87932	D	0	.	16.8619	0.86020	0.0:1.0:0.0:0.0	.	272;260	D3DWK4;Q53H96	.;P5CR3_HUMAN	T	272;123;247	ENSP00000220966:A272T;ENSP00000366802:A123T;ENSP00000404493:A247T	ENSP00000220966:A272T	A	-	1	0	PYCRL	144759060	1.000000	0.71417	0.605000	0.28930	0.302000	0.27658	5.933000	0.70130	2.336000	0.79503	0.561000	0.74099	GCC		0.682	PYCRL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347081.2	NM_023078		7	13	0	0	0	1	0	7	13					T	144687917	C	T	144687917	3	4	435	1	0	0	0	0	1	0	0	0	12857	768	27	1	50	1	PYCRL	8	144687917	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	15769	144687917	1676105	4170	25095											
TSTA3	7264	broad.mit.edu	37	chr8	144695126	144695126	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagtgaaccaagcacaggtcTccttcaccgctgcagaggca	11	6	10	14	1	2	2	1	1	1	1	3	2	2	2	3	2	3	4	3	2	2	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:144695126T>C	ENST00000425753.2	-	11	1023	c.920A>G	c.(919-921)gAg>gGg	p.E307G	TSTA3_ENST00000529064.1_Missense_Mutation_p.E307G	NM_003313.3	NP_003304.1	Q13630	FCL_HUMAN	tissue specific transplantation antigen P35B	307					'de novo' GDP-L-fucose biosynthetic process (GO:0042351)|cytolysis (GO:0019835)|GDP-mannose metabolic process (GO:0019673)|leukocyte cell-cell adhesion (GO:0007159)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	coenzyme binding (GO:0050662)|electron carrier activity (GO:0009055)|GDP-4-dehydro-D-rhamnose reductase activity (GO:0042356)|GDP-L-fucose synthase activity (GO:0050577)|isomerase activity (GO:0016853)			breast(1)|endometrium(1)|large_intestine(1)|lung(3)|pancreas(1)|prostate(1)|skin(1)	9	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.17e-38)|Epithelial(56;7.17e-37)|all cancers(56;2.46e-32)|Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239)			AGCACAGGTCTCCTTCACCGC	0.657																																						ENST00000425753.2																			0				breast(1)|endometrium(1)|large_intestine(1)|lung(3)|pancreas(1)|prostate(1)|skin(1)	9						c.(919-921)gAg>gGg		tissue specific transplantation antigen P35B	NADH(DB00157)						54	38	43					8																	144695126		2202	4299	6501	SO:0001583	missense	7264				'de novo' GDP-L-fucose biosynthetic process|leukocyte cell-cell adhesion		coenzyme binding|electron carrier activity|GDP-4-dehydro-D-rhamnose reductase activity|GDP-L-fucose synthase activity|isomerase activity	g.chr8:144695126T>C	U58766	CCDS6408.1	8q24.3	2012-02-22			ENSG00000104522	ENSG00000104522	1.1.1.271	"Short chain dehydrogenase/reductase superfamily / Extended SDR fold"	12390	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 4E, member 1", "GDP-L-fucose synthase"	137020				7803801, 1348494, 19027726	Standard	NM_003313		Approved	FX, P35B, SDR4E1	uc003yzb.2	Q13630	OTTHUMG00000165159	ENST00000425753.2:c.920A>G	8.37:g.144695126T>C	ENSP00000398803:p.Glu307Gly					TSTA3_ENST00000529064.1_Missense_Mutation_p.E307G	p.E307G	NM_003313.3	NP_003304.1	Q13630	FCL_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;1.17e-38)|Epithelial(56;7.17e-37)|all cancers(56;2.46e-32)|Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239)		11	1023	-	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		307					B2R8Y7|D3DWK5|Q567Q9|Q9UDG7	Missense_Mutation	SNP	ENST00000425753.2	37	c.920A>G	CCDS6408.1	.	.	.	.	.	.	.	.	.	.	T	19.66	3.868867	0.72065	.	.	ENSG00000104522	ENST00000529064;ENST00000425753	.	.	.	5.04	5.04	0.67666	.	0.244551	0.39407	N	0.001374	T	0.67776	0.2929	M	0.85099	2.735	0.58432	D	0.999999	B	0.33135	0.399	B	0.38156	0.266	T	0.68209	-0.5469	9	0.33940	T	0.23	-29.6187	12.1627	0.54113	0.0:0.0:0.0:1.0	.	307	Q13630	FCL_HUMAN	G	307	.	ENSP00000398803:E307G	E	-	2	0	TSTA3	144766269	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.027000	0.76463	1.909000	0.55274	0.528000	0.53228	GAG		0.657	TSTA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382263.1	NM_003313		3	13	0	0	0	1	0	3	13					C	144695126	T	C	144695126	3	2	435	1	0	0	0	0	1	0	0	0	16671	1551	54	4	49	4	TSTA3	8	144695126	Missense_Mutation	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	7209	144695126	1668896	4171	25096											
TSTA3	7264	broad.mit.edu	37	chr8	144695693	144695693	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agcactggagccagaggataCggtgacttccccatggaagt	11	7	13	10	1	0	2	0	1	0	1	1	5	1	5	3	4	3	1	3	4	2	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:144695693C>T	ENST00000425753.2	-	9	914		c.e9+1		TSTA3_ENST00000529064.1_Splice_Site	NM_003313.3	NP_003304.1	Q13630	FCL_HUMAN	tissue specific transplantation antigen P35B						'de novo' GDP-L-fucose biosynthetic process (GO:0042351)|cytolysis (GO:0019835)|GDP-mannose metabolic process (GO:0019673)|leukocyte cell-cell adhesion (GO:0007159)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	coenzyme binding (GO:0050662)|electron carrier activity (GO:0009055)|GDP-4-dehydro-D-rhamnose reductase activity (GO:0042356)|GDP-L-fucose synthase activity (GO:0050577)|isomerase activity (GO:0016853)			breast(1)|endometrium(1)|large_intestine(1)|lung(3)|pancreas(1)|prostate(1)|skin(1)	9	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.17e-38)|Epithelial(56;7.17e-37)|all cancers(56;2.46e-32)|Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239)			CCAGAGGATACGGTGACTTCC	0.687																																						ENST00000425753.2																			0				breast(1)|endometrium(1)|large_intestine(1)|lung(3)|pancreas(1)|prostate(1)|skin(1)	9						c.e9+1		tissue specific transplantation antigen P35B	NADH(DB00157)																																			SO:0001630	splice_region_variant	7264				'de novo' GDP-L-fucose biosynthetic process|leukocyte cell-cell adhesion		coenzyme binding|electron carrier activity|GDP-4-dehydro-D-rhamnose reductase activity|GDP-L-fucose synthase activity|isomerase activity	g.chr8:144695693C>T	U58766	CCDS6408.1	8q24.3	2012-02-22			ENSG00000104522	ENSG00000104522	1.1.1.271	"Short chain dehydrogenase/reductase superfamily / Extended SDR fold"	12390	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 4E, member 1", "GDP-L-fucose synthase"	137020				7803801, 1348494, 19027726	Standard	NM_003313		Approved	FX, P35B, SDR4E1	uc003yzb.2	Q13630	OTTHUMG00000165159	ENST00000425753.2:c.810+1G>A	8.37:g.144695693C>T						TSTA3_ENST00000529064.1_Splice_Site		NM_003313.3	NP_003304.1	Q13630	FCL_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;1.17e-38)|Epithelial(56;7.17e-37)|all cancers(56;2.46e-32)|Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239)		9	914	-	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)							B2R8Y7|D3DWK5|Q567Q9|Q9UDG7	Splice_Site	SNP	ENST00000425753.2	37		CCDS6408.1	.	.	.	.	.	.	.	.	.	.	C	16.08	3.022648	0.54683	.	.	ENSG00000104522	ENST00000524719;ENST00000529064;ENST00000425753	.	.	.	4.67	4.67	0.58626	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.294	0.66300	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TSTA3	144766836	1.000000	0.71417	0.466000	0.27168	0.606000	0.37113	6.932000	0.75869	2.145000	0.66743	0.650000	0.86243	.		0.687	TSTA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382263.1	NM_003313	Intron	4	17	0	0	0	1	0	4	17					T	144695693	C	T	144695693	5	4	435	1	0	0	0	0	0	0	1	0	16671	550	19	1	166	1	TSTA3	8	144695693	Splice_Site	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	567	144695693	1668329	4172	25097											
TSTA3	7264	broad.mit.edu	37	chr8	144697027	144697027	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acaggcaggacaccaccttgCgggcgcccacctcaaaggcc	10	3	11	17	2	1	0	1	0	0	0	1	1	1	1	5	4	1	1	5	4	1	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:144697027C>T	ENST00000425753.2	-	4	423	c.320G>A	c.(319-321)cGc>cAc	p.R107H	TSTA3_ENST00000529064.1_Missense_Mutation_p.R107H	NM_003313.3	NP_003304.1	Q13630	FCL_HUMAN	tissue specific transplantation antigen P35B	107					'de novo' GDP-L-fucose biosynthetic process (GO:0042351)|cytolysis (GO:0019835)|GDP-mannose metabolic process (GO:0019673)|leukocyte cell-cell adhesion (GO:0007159)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	coenzyme binding (GO:0050662)|electron carrier activity (GO:0009055)|GDP-4-dehydro-D-rhamnose reductase activity (GO:0042356)|GDP-L-fucose synthase activity (GO:0050577)|isomerase activity (GO:0016853)			breast(1)|endometrium(1)|large_intestine(1)|lung(3)|pancreas(1)|prostate(1)|skin(1)	9	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.17e-38)|Epithelial(56;7.17e-37)|all cancers(56;2.46e-32)|Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239)			CACCACCTTGCGGGCGCCCAC	0.627																																						ENST00000425753.2																			0				breast(1)|endometrium(1)|large_intestine(1)|lung(3)|pancreas(1)|prostate(1)|skin(1)	9						c.(319-321)cGc>cAc		tissue specific transplantation antigen P35B	NADH(DB00157)						110	92	98					8																	144697027		2203	4300	6503	SO:0001583	missense	7264				'de novo' GDP-L-fucose biosynthetic process|leukocyte cell-cell adhesion		coenzyme binding|electron carrier activity|GDP-4-dehydro-D-rhamnose reductase activity|GDP-L-fucose synthase activity|isomerase activity	g.chr8:144697027C>T	U58766	CCDS6408.1	8q24.3	2012-02-22			ENSG00000104522	ENSG00000104522	1.1.1.271	"Short chain dehydrogenase/reductase superfamily / Extended SDR fold"	12390	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 4E, member 1", "GDP-L-fucose synthase"	137020				7803801, 1348494, 19027726	Standard	NM_003313		Approved	FX, P35B, SDR4E1	uc003yzb.2	Q13630	OTTHUMG00000165159	ENST00000425753.2:c.320G>A	8.37:g.144697027C>T	ENSP00000398803:p.Arg107His					TSTA3_ENST00000529064.1_Missense_Mutation_p.R107H	p.R107H	NM_003313.3	NP_003304.1	Q13630	FCL_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;1.17e-38)|Epithelial(56;7.17e-37)|all cancers(56;2.46e-32)|Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239)		4	423	-	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		107					B2R8Y7|D3DWK5|Q567Q9|Q9UDG7	Missense_Mutation	SNP	ENST00000425753.2	37	c.320G>A	CCDS6408.1	.	.	.	.	.	.	.	.	.	.	C	13.38	2.220067	0.39201	.	.	ENSG00000104522	ENST00000529064;ENST00000425753;ENST00000529048;ENST00000533817;ENST00000526290	D;D;D;D;D	0.93859	-3.3;-3.3;-3.3;-3.3;-3.3	4.85	2.02	0.26589	NAD-dependent epimerase/dehydratase (1);NAD(P)-binding domain (1);	0.765524	0.13334	N	0.395716	D	0.89308	0.6678	L	0.52573	1.65	0.09310	N	0.999999	B;B	0.22080	0.064;0.045	B;B	0.21546	0.022;0.035	T	0.82325	-0.0513	10	0.62326	D	0.03	-3.4659	6.2203	0.20677	0.0:0.5799:0.0:0.4201	.	107;107	B4DZW9;Q13630	.;FCL_HUMAN	H	107	ENSP00000435386:R107H;ENSP00000398803:R107H;ENSP00000431587:R107H;ENSP00000437012:R107H;ENSP00000433331:R107H	ENSP00000398803:R107H	R	-	2	0	TSTA3	144768170	0.001000	0.12720	0.812000	0.32479	0.883000	0.51084	-0.150000	0.10189	1.037000	0.40024	0.467000	0.42956	CGC		0.627	TSTA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382263.1	NM_003313		11	15	0	0	0	1	0	11	15					T	144697027	C	T	144697027	3	4	435	1	0	0	0	0	1	0	0	0	16671	768	27	1	677	1	TSTA3	8	144697027	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	1334	144697027	1666995	4173	25098											
ZNF707	286075	broad.mit.edu	37	chr8	144776245	144776245	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggtgggcttcaaacctgcagCgccaccagaagaaccacacg	12	4	11	14	2	1	2	1	0	0	2	1	2	1	2	4	2	4	2	4	2	3	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:144776245C>T	ENST00000532205.1	+	8	1560	c.661C>T	c.(661-663)Cgc>Tgc	p.R221C	ZNF707_ENST00000358656.4_Missense_Mutation_p.R221C|ZNF707_ENST00000532158.1_Missense_Mutation_p.R221C|ZNF707_ENST00000418203.2_Missense_Mutation_p.R221C|ZNF707_ENST00000454097.1_Missense_Mutation_p.R221C|RP11-429J17.2_ENST00000531565.1_RNA			Q96C28	ZN707_HUMAN	zinc finger protein 707	221					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)	1	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;5.6e-41)|Epithelial(56;1.02e-39)|all cancers(56;9.65e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			AAACCTGCAGCGCCACCAGAA	0.672																																						ENST00000532205.1																			0				breast(1)	1						c.(661-663)Cgc>Tgc		zinc finger protein 707							16	19	18					8																	144776245		2082	4224	6306	SO:0001583	missense	286075				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr8:144776245C>T	AK001126	CCDS47932.1	8q24.3	2013-01-08				ENSG00000181135		"Zinc fingers, C2H2-type", "-"	27815	protein-coding gene	gene with protein product						12477932	Standard	NM_173831		Approved		uc010mfi.3	Q96C28		ENST00000532205.1:c.661C>T	8.37:g.144776245C>T	ENSP00000436212:p.Arg221Cys					ZNF707_ENST00000454097.1_Missense_Mutation_p.R221C|ZNF707_ENST00000532158.1_Missense_Mutation_p.R221C|ZNF707_ENST00000418203.2_Missense_Mutation_p.R221C|ZNF707_ENST00000358656.4_Missense_Mutation_p.R221C	p.R221C			Q96C28	ZN707_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;5.6e-41)|Epithelial(56;1.02e-39)|all cancers(56;9.65e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)		8	1560	+	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		221					A8K317|B3KNY1|D3DWK7	Missense_Mutation	SNP	ENST00000532205.1	37	c.661C>T	CCDS47932.1	.	.	.	.	.	.	.	.	.	.	C	11.09	1.535437	0.27475	.	.	ENSG00000181135	ENST00000454097;ENST00000358656;ENST00000532158;ENST00000532205;ENST00000418203	T;T;T;T;T	0.26660	1.72;1.72;1.72;1.72;1.72	2.99	-0.252	0.12999	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.47838	0.1467	M	0.86805	2.84	0.09310	N	1	D;D	0.89917	1.0;1.0	D;D	0.69479	0.964;0.912	T	0.26052	-1.0114	8	.	.	.	-12.7845	5.0969	0.14739	0.3575:0.3062:0.3363:0.0	.	146;221	B4DV46;Q96C28	.;ZN707_HUMAN	C	221	ENSP00000409029:R221C;ENSP00000351482:R221C;ENSP00000436250:R221C;ENSP00000436212:R221C;ENSP00000413215:R221C	.	R	+	1	0	ZNF707	144848233	0.000000	0.05858	0.211000	0.23655	0.228000	0.25075	-3.126000	0.00593	0.418000	0.25898	0.563000	0.77884	CGC		0.672	ZNF707-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382197.1	NM_173831		6	9	0	0	0	1	0	6	9					T	144776245	C	T	144776245	3	4	435	1	0	0	0	0	1	0	0	0	18108	768	27	1	675	1	ZNF707	8	144776245	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	79218	144776245	1587777	4174	25099											
FAM83H	286077	broad.mit.edu	37	chr8	144808312	144808312	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgcgctggctggcagcgtgcGgctcagccggccctgggtcc	2	6	17	16	5	1	0	1	0	0	0	2	0	2	0	3	5	3	4	3	5	0	0	rs202021527		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:144808312G>A	ENST00000388913.3	-	5	3444	c.3319C>T	c.(3319-3321)Cgc>Tgc	p.R1107C		NM_198488.3	NP_940890	Q6ZRV2	FA83H_HUMAN	family with sequence similarity 83, member H	1107					biomineral tissue development (GO:0031214)					central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(12)|pancreas(1)|prostate(3)|urinary_tract(1)	21	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			GGCAGCGTGCGGCTCAGCCGG	0.667													g|||	1	0.000199681	8e-04	0	5008	,	,		15563	0		0	False		,,,				2504	0					ENST00000388913.3																			0				central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(12)|pancreas(1)|prostate(3)|urinary_tract(1)	21						c.(3319-3321)Cgc>Tgc		family with sequence similarity 83, member H							11	13	12					8																	144808312		1994	4153	6147	SO:0001583	missense	286077				biomineral tissue development			g.chr8:144808312G>A	AK127960	CCDS6410.2	8q24.3	2014-03-13			ENSG00000180921	ENSG00000180921			24797	protein-coding gene	gene with protein product		611927				18252228	Standard	NM_198488		Approved	FLJ46072	uc003yzk.3	Q6ZRV2	OTTHUMG00000133559	ENST00000388913.3:c.3319C>T	8.37:g.144808312G>A	ENSP00000373565:p.Arg1107Cys						p.R1107C	NM_198488.3	NP_940890.3	Q6ZRV2	FA83H_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)		5	3444	-	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		1107					A0JLS2|Q8N4W0	Missense_Mutation	SNP	ENST00000388913.3	37	c.3319C>T	CCDS6410.2	2	9.157509157509158E-4	1	0.0020325203252032522	0	0.0	1	0.0017482517482517483	0	0.0	g	14.54	2.567253	0.45694	.	.	ENSG00000180921	ENST00000388913	T	0.20069	2.1	4.96	4.96	0.65561	.	0.139881	0.31531	U	0.007493	T	0.13628	0.0330	L	0.32530	0.975	0.42077	D	0.991236	B	0.30104	0.268	B	0.21151	0.033	T	0.07385	-1.0775	10	0.72032	D	0.01	.	6.0117	0.19580	0.1008:0.0:0.7089:0.1903	.	1107	Q6ZRV2	FA83H_HUMAN	C	1107	ENSP00000373565:R1107C	ENSP00000373565:R1107C	R	-	1	0	FAM83H	144880300	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.911000	0.63328	2.304000	0.77564	0.556000	0.70494	CGC		0.667	FAM83H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257632.2	NM_198488		7	7	0	0	0	1	0	7	7					A	144808312	G	A	144808312	3	1	435	1	0	0	0	0	1	0	0	0	5640	1116	39	2	224	2	FAM83H	8	144808312	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	32067	144808312	1555710	4175	25100											
SCRIB	23513	broad.mit.edu	37	chr8	144895096	144895096	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccagccggttttccgacacGtccaggcacaccaggcgccg	7	6	11	17	5	0	0	0	0	0	0	3	1	3	0	6	3	1	2	6	3	0	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:144895096G>A	ENST00000320476.3	-	8	684	c.678C>T	c.(676-678)gaC>gaT	p.D226D	SCRIB_ENST00000356994.2_Silent_p.D226D|MIR937_ENST00000401271.1_RNA|SCRIB_ENST00000377533.3_Silent_p.D145D	NM_015356.4	NP_056171	Q14160	SCRIB_HUMAN	scribbled planar cell polarity protein	226	Sufficient for targeting to adherens junction and to inhibit cell proliferation.				activation of Rac GTPase activity (GO:0032863)|apoptotic process involved in morphogenesis (GO:0060561)|astrocyte cell migration (GO:0043615)|asymmetric protein localization (GO:0008105)|auditory receptor cell stereocilium organization (GO:0060088)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cochlear nucleus development (GO:0021747)|establishment of apical/basal cell polarity (GO:0035089)|mammary gland duct morphogenesis (GO:0060603)|negative regulation of mitotic cell cycle (GO:0045930)|neural tube closure (GO:0001843)|positive chemotaxis (GO:0050918)|positive regulation of apoptotic process (GO:0043065)|positive regulation of receptor recycling (GO:0001921)|protein localization to adherens junction (GO:0071896)|single organismal cell-cell adhesion (GO:0016337)|synaptic vesicle endocytosis (GO:0048488)|synaptic vesicle targeting (GO:0016080)|viral process (GO:0016032)|wound healing (GO:0042060)	basolateral plasma membrane (GO:0016323)|cell projection (GO:0042995)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|myelin sheath abaxonal region (GO:0035748)|plasma membrane (GO:0005886)|Scrib-APC-beta-catenin complex (GO:0034750)				NS(1)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	42	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			TTTCCGACACGTCCAGGCACA	0.692																																					Pancreas(51;966 1133 10533 14576 29674)	ENST00000356994.2																			0				NS(1)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	42						c.(676-678)gaC>gaT		scribbled planar cell polarity protein							33	33	33					8																	144895096		2200	4298	6498	SO:0001819	synonymous_variant	23513				activation of Rac GTPase activity|apoptosis involved in morphogenesis|cell migration|cell proliferation|cell-cell adhesion|establishment of apical/basal cell polarity|interspecies interaction between organisms|mammary gland duct morphogenesis|negative regulation of mitotic cell cycle|positive chemotaxis|positive regulation of apoptosis|positive regulation of receptor recycling|protein localization to adherens junction	cell-cell adherens junction|Scrib-APC-beta-catenin complex	protein binding	g.chr8:144895096G>A	AY062238	CCDS6411.1, CCDS6412.1	8q24.3	2013-03-05	2013-03-05		ENSG00000180900	ENSG00000180900			30377	protein-coding gene	gene with protein product		607733	"scribbled homolog (Drosophila)"			11027293, 14681682	Standard	NM_182706		Approved	KIAA0147, SCRB1, Vartul	uc003yzo.1	Q14160	OTTHUMG00000165154	ENST00000320476.3:c.678C>T	8.37:g.144895096G>A						SCRIB_ENST00000377533.3_Silent_p.D145D|SCRIB_ENST00000320476.3_Silent_p.D226D	p.D226D	NM_182706.4	NP_874365.3	Q14160	SCRIB_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)		8	684	-	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		226			Sufficient for targeting to adherens junction and to inhibit cell proliferation.		Q6P496|Q7Z5D1|Q8WWV8|Q96C69|Q96GG1	Silent	SNP	ENST00000320476.3	37	c.678C>T	CCDS6411.1																																																																																				0.692	SCRIB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000382215.1	NM_015356		5	10	0	0	0	1	0	5	10					A	144895096	G	A	144895096	2	1	435	1	0	0	0	0	0	0	0	1	13937	1136	40	1		1	SCRIB	8	144895096	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	86784	144895096	1468926	4176	25101											
EPPK1	83481	broad.mit.edu	37	chr8	144940342	144940342	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagccgcgccggtaggccacGtccacgggcacgcggtggct	5	5	16	15	7	0	0	0	0	0	0	1	0	1	0	4	5	1	3	4	5	2	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:144940342G>A	ENST00000525985.1	-	2	7151	c.7080C>T	c.(7078-7080)gaC>gaT	p.D2360D				P58107	EPIPL_HUMAN	epiplakin 1	2360						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GGTAGGCCACGTCCACGGGCA	0.692																																						ENST00000525985.1																			0				NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						c.(7078-7080)gaC>gaT		epiplakin 1							198	194	195					8																	144940342		2174	4250	6424	SO:0001819	synonymous_variant	83481					cytoplasm|cytoskeleton	protein binding|structural molecule activity	g.chr8:144940342G>A	AB051895	CCDS75800.1	8q24.3	2014-09-17				ENSG00000261150			15577	protein-coding gene	gene with protein product	"epidermal autoantigen 450K"	607553				11278896, 15671067	Standard	NM_031308		Approved	EPIPL1	uc003zaa.1	P58107		ENST00000525985.1:c.7080C>T	8.37:g.144940342G>A							p.D2360D			P58107	EPIPL_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		2	7151	-	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		2360					Q76E58|Q9NSU9	Silent	SNP	ENST00000525985.1	37	c.7080C>T																																																																																					0.692	EPPK1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000382675.1	NM_031308		16	251	0	0	0	1	0	16	251					A	144940342	G	A	144940342	2	1	435	1	0	0	0	0	0	0	0	1	5190	1136	40	1		1	EPPK1	8	144940342	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	45246	144940342	1423680	4177	25102											
EPPK1	83481	broad.mit.edu	37	chr8	144940801	144940801	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcgtcctccatgagctcttgCgtcgtgctccgtcccgtttc	2	14	9	16	5	1	1	0	1	1	0	8	1	5	1	4	0	3	3	4	0	0	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:144940801C>T	ENST00000525985.1	-	2	6692	c.6621G>A	c.(6619-6621)acG>acA	p.T2207T				P58107	EPIPL_HUMAN	epiplakin 1	2207						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			TGAGCTCTTGCGTCGTGCTCC	0.622																																						ENST00000525985.1																			0				NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						c.(6619-6621)acG>acA		epiplakin 1							161	167	165					8																	144940801		2042	4179	6221	SO:0001819	synonymous_variant	83481					cytoplasm|cytoskeleton	protein binding|structural molecule activity	g.chr8:144940801C>T	AB051895	CCDS75800.1	8q24.3	2014-09-17				ENSG00000261150			15577	protein-coding gene	gene with protein product	"epidermal autoantigen 450K"	607553				11278896, 15671067	Standard	NM_031308		Approved	EPIPL1	uc003zaa.1	P58107		ENST00000525985.1:c.6621G>A	8.37:g.144940801C>T							p.T2207T			P58107	EPIPL_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		2	6692	-	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		2207					Q76E58|Q9NSU9	Silent	SNP	ENST00000525985.1	37	c.6621G>A																																																																																					0.622	EPPK1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000382675.1	NM_031308		16	129	0	0	0	1	0	16	129					T	144940801	C	T	144940801	2	4	435	1	0	0	0	0	0	0	0	1	5190	755	27	1		1	EPPK1	8	144940801	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	459	144940801	1423221	4178	25103											
EPPK1	83481	broad.mit.edu	37	chr8	144945928	144945928	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccccggaacttccccacagaGacggtggctgtggccgtgct	6	7	13	15	3	0	1	0	0	0	1	1	3	1	2	5	4	2	2	5	4	1	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:144945928G>A	ENST00000525985.1	-	2	1565	c.1494C>T	c.(1492-1494)gtC>gtT	p.V498V				P58107	EPIPL_HUMAN	epiplakin 1	498						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			TCCCCACAGAGACGGTGGCTG	0.677																																						ENST00000525985.1																			0				NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						c.(1492-1494)gtC>gtT		epiplakin 1							13	17	16					8																	144945928		1903	4092	5995	SO:0001819	synonymous_variant	83481					cytoplasm|cytoskeleton	protein binding|structural molecule activity	g.chr8:144945928G>A	AB051895	CCDS75800.1	8q24.3	2014-09-17				ENSG00000261150			15577	protein-coding gene	gene with protein product	"epidermal autoantigen 450K"	607553				11278896, 15671067	Standard	NM_031308		Approved	EPIPL1	uc003zaa.1	P58107		ENST00000525985.1:c.1494C>T	8.37:g.144945928G>A							p.V498V			P58107	EPIPL_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		2	1565	-	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		498					Q76E58|Q9NSU9	Silent	SNP	ENST00000525985.1	37	c.1494C>T																																																																																					0.677	EPPK1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000382675.1	NM_031308		10	19	0	0	0	1	0	10	19					A	144945928	G	A	144945928	2	1	435	1	0	0	0	0	0	0	0	1	5190	929	33	3		3	EPPK1	8	144945928	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	5127	144945928	1418094	4179	25104											
EPPK1	83481	broad.mit.edu	37	chr8	144946563	144946563	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcaggacaaccccggccaCgctgccggtaccctccaggt	8	4	11	18	3	0	0	0	0	0	0	1	1	1	1	6	4	4	3	6	4	2	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:144946563C>T	ENST00000525985.1	-	2	930	c.859G>A	c.(859-861)Gtg>Atg	p.V287M				P58107	EPIPL_HUMAN	epiplakin 1	287						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			ACCCCGGCCACGCTGCCGGTA	0.682																																						ENST00000525985.1																			0				NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						c.(859-861)Gtg>Atg		epiplakin 1							21	29	26					8																	144946563		2142	4222	6364	SO:0001583	missense	83481					cytoplasm|cytoskeleton	protein binding|structural molecule activity	g.chr8:144946563C>T	AB051895	CCDS75800.1	8q24.3	2014-09-17				ENSG00000261150			15577	protein-coding gene	gene with protein product	"epidermal autoantigen 450K"	607553				11278896, 15671067	Standard	NM_031308		Approved	EPIPL1	uc003zaa.1	P58107		ENST00000525985.1:c.859G>A	8.37:g.144946563C>T	ENSP00000436337:p.Val287Met						p.V287M			P58107	EPIPL_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		2	930	-	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		287					Q76E58|Q9NSU9	Missense_Mutation	SNP	ENST00000525985.1	37	c.859G>A		.	.	.	.	.	.	.	.	.	.	C	9.212	1.031198	0.19590	.	.	ENSG00000227184	ENST00000525985	T	0.70282	-0.47	4.81	-1.34	0.09143	.	.	.	.	.	T	0.41926	0.1180	L	0.27053	0.805	0.09310	N	1	P	0.43938	0.822	B	0.24155	0.051	T	0.41413	-0.9510	9	0.72032	D	0.01	.	0.799	0.01072	0.1506:0.2568:0.2774:0.3152	.	287	E9PPU0	.	M	287	ENSP00000436337:V287M	ENSP00000436337:V287M	V	-	1	0	EPPK1	145018551	0.000000	0.05858	0.001000	0.08648	0.196000	0.23810	-0.980000	0.03770	-0.522000	0.06417	0.511000	0.50034	GTG		0.682	EPPK1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000382675.1	NM_031308		8	29	0	0	0	1	0	8	29					T	144946563	C	T	144946563	3	4	435	1	0	0	0	0	1	0	0	0	5190	536	19	1	6407	1	EPPK1	8	144946563	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	635	144946563	1417459	4180	25105											
EPPK1	83481	broad.mit.edu	37	chr8	144946589	144946589	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cggtaccctccaggtagcgcCgcacctcggcacgtgcactc	6	6	11	18	5	0	0	0	0	0	0	3	0	1	0	4	3	3	5	4	3	2	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:144946589C>T	ENST00000525985.1	-	2	904	c.833G>A	c.(832-834)cGg>cAg	p.R278Q				P58107	EPIPL_HUMAN	epiplakin 1	278						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CAGGTAGCGCCGCACCTCGGC	0.682																																						ENST00000525985.1																			0				NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						c.(832-834)cGg>cAg		epiplakin 1							19	23	22					8																	144946589		2167	4250	6417	SO:0001583	missense	83481					cytoplasm|cytoskeleton	protein binding|structural molecule activity	g.chr8:144946589C>T	AB051895	CCDS75800.1	8q24.3	2014-09-17				ENSG00000261150			15577	protein-coding gene	gene with protein product	"epidermal autoantigen 450K"	607553				11278896, 15671067	Standard	NM_031308		Approved	EPIPL1	uc003zaa.1	P58107		ENST00000525985.1:c.833G>A	8.37:g.144946589C>T	ENSP00000436337:p.Arg278Gln						p.R278Q			P58107	EPIPL_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		2	904	-	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		278					Q76E58|Q9NSU9	Missense_Mutation	SNP	ENST00000525985.1	37	c.833G>A		.	.	.	.	.	.	.	.	.	.	C	5.181	0.218977	0.09810	.	.	ENSG00000227184	ENST00000525985	T	0.67865	-0.29	4.81	-8.59	0.00893	.	.	.	.	.	T	0.48696	0.1514	L	0.28054	0.825	0.09310	N	1	B	0.17667	0.023	B	0.04013	0.001	T	0.29150	-1.0021	9	0.24483	T	0.36	.	16.4726	0.84115	0.0:0.1736:0.0:0.8264	.	278	E9PPU0	.	Q	278	ENSP00000436337:R278Q	ENSP00000436337:R278Q	R	-	2	0	EPPK1	145018577	0.000000	0.05858	0.000000	0.03702	0.068000	0.16541	-0.476000	0.06591	-1.942000	0.01040	-0.409000	0.06214	CGG		0.682	EPPK1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000382675.1	NM_031308		10	11	0	0	0	1	0	10	11					T	144946589	C	T	144946589	3	4	435	1	0	0	0	0	1	0	0	0	5190	652	23	2	6433	2	EPPK1	8	144946589	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	26	144946589	1417433	4181	25106											
EPPK1	83481	broad.mit.edu	37	chr8	144946858	144946858	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgccaggctcaagctctgaCagcttgtgccatgtctcccg	6	10	11	14	1	3	1	1	1	2	0	4	1	3	1	3	1	4	3	3	1	1	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:144946858C>T	ENST00000525985.1	-	2	635	c.564G>A	c.(562-564)ctG>ctA	p.L188L				P58107	EPIPL_HUMAN	epiplakin 1	188						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CAAGCTCTGACAGCTTGTGCC	0.677																																						ENST00000525985.1																			0				NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						c.(562-564)ctG>ctA		epiplakin 1							19	24	22					8																	144946858		2123	4222	6345	SO:0001819	synonymous_variant	83481					cytoplasm|cytoskeleton	protein binding|structural molecule activity	g.chr8:144946858C>T	AB051895	CCDS75800.1	8q24.3	2014-09-17				ENSG00000261150			15577	protein-coding gene	gene with protein product	"epidermal autoantigen 450K"	607553				11278896, 15671067	Standard	NM_031308		Approved	EPIPL1	uc003zaa.1	P58107		ENST00000525985.1:c.564G>A	8.37:g.144946858C>T							p.L188L			P58107	EPIPL_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		2	635	-	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		188					Q76E58|Q9NSU9	Silent	SNP	ENST00000525985.1	37	c.564G>A																																																																																					0.677	EPPK1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000382675.1	NM_031308		6	15	0	0	0	1	0	6	15					T	144946858	C	T	144946858	2	4	435	1	0	0	0	0	0	0	0	1	5190	465	17	3		3	EPPK1	8	144946858	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	269	144946858	1417164	4182	25107											
PLEC	5339	broad.mit.edu	37	chr8	144990902	144990902	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgacatcttggtcttggtgcGtgggtcctcgaagccgcaga	6	10	14	11	4	2	1	0	0	2	1	4	3	3	1	2	3	2	1	2	3	1	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:144990902G>A	ENST00000322810.4	-	32	13667	c.13498C>T	c.(13498-13500)Cgc>Tgc	p.R4500C	PLEC_ENST00000527096.1_Missense_Mutation_p.R4386C|PLEC_ENST00000436759.2_Missense_Mutation_p.R4390C|PLEC_ENST00000356346.3_Missense_Mutation_p.R4349C|PLEC_ENST00000398774.2_Missense_Mutation_p.R4331C|PLEC_ENST00000354958.2_Missense_Mutation_p.R4341C|PLEC_ENST00000357649.2_Missense_Mutation_p.R4367C|PLEC_ENST00000354589.3_Missense_Mutation_p.R4363C|PLEC_ENST00000345136.3_Missense_Mutation_p.R4363C	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	4500	Globular 2.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						GTCTTGGTGCGTGGGTCCTCG	0.647																																						ENST00000322810.4																			0				NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						c.(13498-13500)Cgc>Tgc		plectin							44	48	47					8																	144990902		2082	4216	6298	SO:0001583	missense	5339				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle	g.chr8:144990902G>A	U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"plectin 1, intermediate filament binding protein, 500kD", "epidermolysis bullosa simplex 1 (Ogna)", "plectin 1, intermediate filament binding protein 500kDa"	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.13498C>T	8.37:g.144990902G>A	ENSP00000323856:p.Arg4500Cys					PLEC_ENST00000436759.2_Missense_Mutation_p.R4390C|PLEC_ENST00000398774.2_Missense_Mutation_p.R4331C|PLEC_ENST00000356346.3_Missense_Mutation_p.R4349C|PLEC_ENST00000357649.2_Missense_Mutation_p.R4367C|PLEC_ENST00000354589.3_Missense_Mutation_p.R4363C|PLEC_ENST00000527096.1_Missense_Mutation_p.R4386C|PLEC_ENST00000345136.3_Missense_Mutation_p.R4363C|PLEC_ENST00000354958.2_Missense_Mutation_p.R4341C	p.R4500C	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN			32	13667	-			4500			Globular 2.		Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Missense_Mutation	SNP	ENST00000322810.4	37	c.13498C>T	CCDS43772.1	.	.	.	.	.	.	.	.	.	.	G	8.584	0.882895	0.17467	.	.	ENSG00000178209	ENST00000345136;ENST00000357649;ENST00000354589;ENST00000398774;ENST00000322810;ENST00000354958;ENST00000356346;ENST00000436759;ENST00000527096	T;T;T;T;T;T;T;T;T	0.68765	-0.35;-0.35;-0.35;-0.35;-0.35;-0.35;-0.35;-0.35;-0.35	5.19	5.19	0.71726	.	0.000000	0.64402	U	0.000007	T	0.71065	0.3296	L	0.29908	0.895	0.80722	D	1	D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D	0.74023	0.982;0.982;0.982;0.959;0.982;0.982;0.982;0.982	T	0.71922	-0.4446	10	0.54805	T	0.06	.	12.4017	0.55416	0.0:0.0:0.7188:0.2812	.	4390;4349;4341;4500;4331;4363;4367;4363	Q15149-2;Q15149-9;Q15149-8;Q15149;Q15149-7;Q15149-5;Q15149-6;Q15149-4	.;.;.;PLEC_HUMAN;.;.;.;.	C	4363;4367;4363;4331;4500;4341;4349;4390;4386	ENSP00000344848:R4363C;ENSP00000350277:R4367C;ENSP00000346602:R4363C;ENSP00000381756:R4331C;ENSP00000323856:R4500C;ENSP00000347044:R4341C;ENSP00000348702:R4349C;ENSP00000388180:R4390C;ENSP00000434583:R4386C	ENSP00000323856:R4500C	R	-	1	0	PLEC	145062890	1.000000	0.71417	0.997000	0.53966	0.699000	0.40488	4.703000	0.61824	2.693000	0.91896	0.643000	0.83706	CGC		0.647	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	NM_000445		15	35	0	0	0	1	0	15	35					A	144990902	G	A	144990902	3	1	435	1	0	0	0	0	1	0	0	0	12052	1145	40	1	560	1	PLEC	8	144990902	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	44044	144990902	1373120	4183	25108											
PLEC	5339	broad.mit.edu	37	chr8	144995788	144995788	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagcaggaagcctgaggccGcctgcgcctccagcaggatg	8	4	14	15	2	0	1	0	1	0	0	1	3	1	3	6	3	4	2	6	3	1	0	rs200202579	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:144995788G>A	ENST00000322810.4	-	32	8781	c.8612C>T	c.(8611-8613)gCg>gTg	p.A2871V	PLEC_ENST00000527096.1_Missense_Mutation_p.A2757V|PLEC_ENST00000436759.2_Missense_Mutation_p.A2761V|PLEC_ENST00000356346.3_Missense_Mutation_p.A2720V|PLEC_ENST00000398774.2_Missense_Mutation_p.A2702V|PLEC_ENST00000354958.2_Missense_Mutation_p.A2712V|PLEC_ENST00000357649.2_Missense_Mutation_p.A2738V|PLEC_ENST00000354589.3_Missense_Mutation_p.A2734V|PLEC_ENST00000345136.3_Missense_Mutation_p.A2734V	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	2871	Globular 2.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						GCCTGAGGCCGCCTGCGCCTC	0.662													G|||	3	0.000599042	0.0015	0.0014	5008	,	,		15116	0		0	False		,,,				2504	0					ENST00000322810.4																			0				NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						c.(8611-8613)gCg>gTg		plectin		G	VAL/ALA,VAL/ALA,VAL/ALA,VAL/ALA,VAL/ALA,VAL/ALA,VAL/ALA,VAL/ALA	3,4137		0,3,2067	26	31	30		8282,8159,8135,8612,8105,8201,8213,8201	4.3	0.9	8		30	14,8334		0,14,4160	no	missense,missense,missense,missense,missense,missense,missense,missense	PLEC	NM_000445.3,NM_201378.2,NM_201379.1,NM_201380.2,NM_201381.1,NM_201382.2,NM_201383.1,NM_201384.1	64,64,64,64,64,64,64,64	0,17,6227	AA,AG,GG		0.1677,0.0725,0.1361	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	2761/4575,2720/4534,2712/4526,2871/4685,2702/4516,2734/4548,2738/4552,2734/4548	144995788	17,12471	2070	4174	6244	SO:0001583	missense	5339				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle	g.chr8:144995788G>A	U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"plectin 1, intermediate filament binding protein, 500kD", "epidermolysis bullosa simplex 1 (Ogna)", "plectin 1, intermediate filament binding protein 500kDa"	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.8612C>T	8.37:g.144995788G>A	ENSP00000323856:p.Ala2871Val					PLEC_ENST00000436759.2_Missense_Mutation_p.A2761V|PLEC_ENST00000398774.2_Missense_Mutation_p.A2702V|PLEC_ENST00000356346.3_Missense_Mutation_p.A2720V|PLEC_ENST00000357649.2_Missense_Mutation_p.A2738V|PLEC_ENST00000354589.3_Missense_Mutation_p.A2734V|PLEC_ENST00000527096.1_Missense_Mutation_p.A2757V|PLEC_ENST00000345136.3_Missense_Mutation_p.A2734V|PLEC_ENST00000354958.2_Missense_Mutation_p.A2712V	p.A2871V	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN			32	8781	-			2871			Globular 2.		Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Missense_Mutation	SNP	ENST00000322810.4	37	c.8612C>T	CCDS43772.1	.	.	.	.	.	.	.	.	.	.	G	14.16	2.451610	0.43531	7.25E-4	0.001677	ENSG00000178209	ENST00000345136;ENST00000357649;ENST00000354589;ENST00000398774;ENST00000322810;ENST00000354958;ENST00000356346;ENST00000436759;ENST00000527096	T;T;T;T;T;T;T;T;T	0.70399	-0.48;-0.48;-0.48;-0.48;-0.48;-0.48;-0.48;-0.48;-0.48	4.3	4.3	0.51218	.	0.000000	0.64402	U	0.000008	D	0.84502	0.5486	M	0.87097	2.86	0.80722	D	1	D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D	0.91635	0.999;0.999;0.999;0.999;0.999;0.999;0.999;0.999	T	0.82874	-0.0241	10	0.15952	T	0.53	.	16.8983	0.86106	0.0:0.0:1.0:0.0	.	2761;2720;2712;2871;2702;2734;2738;2734	Q15149-2;Q15149-9;Q15149-8;Q15149;Q15149-7;Q15149-5;Q15149-6;Q15149-4	.;.;.;PLEC_HUMAN;.;.;.;.	V	2734;2738;2734;2702;2871;2712;2720;2761;2757	ENSP00000344848:A2734V;ENSP00000350277:A2738V;ENSP00000346602:A2734V;ENSP00000381756:A2702V;ENSP00000323856:A2871V;ENSP00000347044:A2712V;ENSP00000348702:A2720V;ENSP00000388180:A2761V;ENSP00000434583:A2757V	ENSP00000323856:A2871V	A	-	2	0	PLEC	145067776	1.000000	0.71417	0.943000	0.38184	0.621000	0.37620	7.609000	0.82925	2.404000	0.81709	0.448000	0.29417	GCG		0.662	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	NM_000445		6	32	0	0	0	1	0	6	32					A	144995788	G	A	144995788	3	1	435	1	0	0	0	0	1	0	0	0	12052	1087	38	1	5446	1	PLEC	8	144995788	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	4886	144995788	1368234	4184	25109											
PLEC	5339	broad.mit.edu	37	chr8	145011407	145011407	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acgcatcctccccttctcccGgggctgtggggaggcacagt	5	8	13	15	2	1	0	0	0	1	0	4	1	3	1	4	5	0	3	4	5	0	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:145011407G>A	ENST00000322810.4	-	4	848	c.679C>T	c.(679-681)Cgg>Tgg	p.R227W	PLEC_ENST00000527096.1_Missense_Mutation_p.R117W|PLEC_ENST00000436759.2_Missense_Mutation_p.R117W|PLEC_ENST00000356346.3_Missense_Mutation_p.R76W|PLEC_ENST00000398774.2_Missense_Mutation_p.R58W|PLEC_ENST00000354958.2_Missense_Mutation_p.R68W|PLEC_ENST00000357649.2_Missense_Mutation_p.R94W|PLEC_ENST00000354589.3_Missense_Mutation_p.R90W|PLEC_ENST00000345136.3_Missense_Mutation_p.R90W	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	227	Actin-binding.|CH 1. {ECO:0000255|PROSITE- ProRule:PRU00044}.|Globular 1.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						CCCTTCTCCCGGGGCTGTGGG	0.677																																						ENST00000322810.4																			0				NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						c.(679-681)Cgg>Tgg		plectin							49	60	56					8																	145011407		2188	4292	6480	SO:0001583	missense	5339				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle	g.chr8:145011407G>A	U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"plectin 1, intermediate filament binding protein, 500kD", "epidermolysis bullosa simplex 1 (Ogna)", "plectin 1, intermediate filament binding protein 500kDa"	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.679C>T	8.37:g.145011407G>A	ENSP00000323856:p.Arg227Trp					PLEC_ENST00000436759.2_Missense_Mutation_p.R117W|PLEC_ENST00000398774.2_Missense_Mutation_p.R58W|PLEC_ENST00000356346.3_Missense_Mutation_p.R76W|PLEC_ENST00000357649.2_Missense_Mutation_p.R94W|PLEC_ENST00000354589.3_Missense_Mutation_p.R90W|PLEC_ENST00000527096.1_Missense_Mutation_p.R117W|PLEC_ENST00000345136.3_Missense_Mutation_p.R90W|PLEC_ENST00000354958.2_Missense_Mutation_p.R68W	p.R227W	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN			4	848	-			227			Actin-binding.|CH 1.|Globular 1.		Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Missense_Mutation	SNP	ENST00000322810.4	37	c.679C>T	CCDS43772.1	.	.	.	.	.	.	.	.	.	.	G	15.51	2.855842	0.51376	.	.	ENSG00000178209	ENST00000345136;ENST00000357649;ENST00000354589;ENST00000398774;ENST00000322810;ENST00000354958;ENST00000356346;ENST00000436759;ENST00000527096;ENST00000528025;ENST00000526416;ENST00000528131	D;D;D;D;D;D;D;D;D;D;D;D	0.95788	-3.49;-3.49;-3.49;-3.49;-3.49;-3.49;-3.49;-3.49;-3.49;-3.81;-3.49;-3.49	5.72	5.72	0.89469	Calponin homology domain (5);	0.000000	0.64402	U	0.000017	D	0.97720	0.9252	M	0.80616	2.505	0.58432	D	0.999994	D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D	0.97110	1.0;0.999;0.999;1.0;0.999;0.999;0.999;0.999	D	0.98231	1.0483	10	0.87932	D	0	.	17.3701	0.87374	0.0:0.0:1.0:0.0	.	117;76;68;227;58;90;94;90	Q15149-2;Q15149-9;Q15149-8;Q15149;Q15149-7;Q15149-5;Q15149-6;Q15149-4	.;.;.;PLEC_HUMAN;.;.;.;.	W	90;94;90;58;227;68;76;117;117;134;67;107	ENSP00000344848:R90W;ENSP00000350277:R94W;ENSP00000346602:R90W;ENSP00000381756:R58W;ENSP00000323856:R227W;ENSP00000347044:R68W;ENSP00000348702:R76W;ENSP00000388180:R117W;ENSP00000434583:R117W;ENSP00000437303:R134W;ENSP00000433557:R67W;ENSP00000436702:R107W	ENSP00000323856:R227W	R	-	1	2	PLEC	145083395	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	3.620000	0.54203	2.713000	0.92767	0.655000	0.94253	CGG		0.677	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	NM_000445		10	17	0	0	0	1	0	10	17					A	145011407	G	A	145011407	3	1	435	1	0	0	0	0	1	0	0	0	12052	1115	39	2	13491	2	PLEC	8	145011407	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	15619	145011407	1352615	4185	25110											
PARP10	84875	broad.mit.edu	37	chr8	145051962	145051962	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgcaccgacagggaggcgCgcctggcgaaatacacgccc	9	3	13	16	5	0	0	0	0	0	0	0	3	0	1	4	3	2	1	4	3	2	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:145051962C>T	ENST00000313028.7	-	11	2862	c.2768G>A	c.(2767-2769)cGc>cAc	p.R923H	PLEC_ENST00000527096.1_5'Flank|PLEC_ENST00000436759.2_5'Flank|PARP10_ENST00000524918.1_Missense_Mutation_p.R914H|PARP10_ENST00000525773.1_Missense_Mutation_p.R935H	NM_032789.3	NP_116178.2	Q53GL7	PAR10_HUMAN	poly (ADP-ribose) polymerase family, member 10	923	PARP catalytic. {ECO:0000255|PROSITE- ProRule:PRU00397}.				negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of gene expression (GO:0010629)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein import into nucleus, translocation (GO:0033159)|negative regulation of protein K63-linked ubiquitination (GO:1900045)|negative regulation of viral genome replication (GO:0045071)|protein ADP-ribosylation (GO:0006471)|protein auto-ADP-ribosylation (GO:0070213)|protein poly-ADP-ribosylation (GO:0070212)|regulation of chromatin assembly (GO:0010847)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	K63-linked polyubiquitin binding (GO:0070530)|NAD+ ADP-ribosyltransferase activity (GO:0003950)			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|pancreas(1)|upper_aerodigestive_tract(2)	27	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.31e-40)|Epithelial(56;1.16e-39)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CAGGGAGGCGCGCCTGGCGAA	0.716																																						ENST00000313028.7																			0				NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|pancreas(1)|upper_aerodigestive_tract(2)	27						c.(2767-2769)cGc>cAc		poly (ADP-ribose) polymerase family, member 10							13	12	12					8																	145051962		2174	4279	6453	SO:0001583	missense	84875					Golgi apparatus|nucleolus	NAD+ ADP-ribosyltransferase activity|nucleotide binding	g.chr8:145051962C>T	AK027370	CCDS34960.1	8q24	2010-02-16				ENSG00000178685		"Poly (ADP-ribose) polymerases"	25895	protein-coding gene	gene with protein product		609564				15273990	Standard	NM_032789		Approved	FLJ14464	uc003zal.4	Q53GL7		ENST00000313028.7:c.2768G>A	8.37:g.145051962C>T	ENSP00000325618:p.Arg923His					PARP10_ENST00000525773.1_Missense_Mutation_p.R935H|PARP10_ENST00000524918.1_Missense_Mutation_p.R914H	p.R923H	NM_032789.3	NP_116178.2	Q53GL7	PAR10_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;1.31e-40)|Epithelial(56;1.16e-39)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		11	2862	-	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		923			PARP catalytic.		Q8N2I0|Q8WV05|Q96CH7|Q96K72	Missense_Mutation	SNP	ENST00000313028.7	37	c.2768G>A	CCDS34960.1	.	.	.	.	.	.	.	.	.	.	C	19.19	3.779415	0.70107	.	.	ENSG00000178685	ENST00000524918;ENST00000534861;ENST00000313028;ENST00000525773	T;T;T	0.14144	2.53;2.53;2.53	5.24	0.812	0.18744	Poly(ADP-ribose) polymerase, catalytic domain (2);	0.685022	0.12754	N	0.441938	T	0.17195	0.0413	N	0.17872	0.535	0.09310	N	0.999998	P;D	0.69078	0.639;0.997	B;D	0.67900	0.054;0.954	T	0.14868	-1.0457	10	0.48119	T	0.1	.	6.5502	0.22429	0.0:0.4009:0.0:0.5991	.	935;923	E9PNI7;Q53GL7	.;PAR10_HUMAN	H	914;629;923;935	ENSP00000431620:R914H;ENSP00000325618:R923H;ENSP00000434776:R935H	ENSP00000325618:R923H	R	-	2	0	PARP10	145123950	0.001000	0.12720	0.841000	0.33234	0.519000	0.34347	1.072000	0.30678	0.235000	0.21160	0.558000	0.71614	CGC		0.716	PARP10-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000383866.1	NM_032789		5	7	0	0	0	1	0	5	7					T	145051962	C	T	145051962	3	4	435	1	0	0	0	0	1	0	0	0	11455	768	27	1	313	1	PARP10	8	145051962	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	40555	145051962	1312060	4186	25111											
PARP10	84875	broad.mit.edu	37	chr8	145058757	145058757	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaagtggcaagagagcgacGtctcccaggcccgcaagaag	12	4	13	12	3	2	2	1	0	1	2	3	4	2	2	2	2	1	2	2	2	4	0	rs370204504		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:145058757G>A	ENST00000313028.7	-	5	1507	c.1413C>T	c.(1411-1413)gaC>gaT	p.D471D	PARP10_ENST00000524918.1_Silent_p.D471D|PARP10_ENST00000525773.1_Silent_p.D483D|PARP10_ENST00000533665.1_5'Flank	NM_032789.3	NP_116178.2	Q53GL7	PAR10_HUMAN	poly (ADP-ribose) polymerase family, member 10	471					negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of gene expression (GO:0010629)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein import into nucleus, translocation (GO:0033159)|negative regulation of protein K63-linked ubiquitination (GO:1900045)|negative regulation of viral genome replication (GO:0045071)|protein ADP-ribosylation (GO:0006471)|protein auto-ADP-ribosylation (GO:0070213)|protein poly-ADP-ribosylation (GO:0070212)|regulation of chromatin assembly (GO:0010847)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	K63-linked polyubiquitin binding (GO:0070530)|NAD+ ADP-ribosyltransferase activity (GO:0003950)			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|pancreas(1)|upper_aerodigestive_tract(2)	27	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.31e-40)|Epithelial(56;1.16e-39)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			AGAGAGCGACGTCTCCCAGGC	0.617																																						ENST00000313028.7																			0				NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|pancreas(1)|upper_aerodigestive_tract(2)	27						c.(1411-1413)gaC>gaT		poly (ADP-ribose) polymerase family, member 10				2,4404	4.2+/-10.8	0,2,2201	109	105	106		1413	-7.8	0	8		106	0,8600		0,0,4300	no	coding-synonymous	PARP10	NM_032789.3		0,2,6501	AA,AG,GG		0.0,0.0454,0.0154		471/1026	145058757	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	84875					Golgi apparatus|nucleolus	NAD+ ADP-ribosyltransferase activity|nucleotide binding	g.chr8:145058757G>A	AK027370	CCDS34960.1	8q24	2010-02-16				ENSG00000178685		"Poly (ADP-ribose) polymerases"	25895	protein-coding gene	gene with protein product		609564				15273990	Standard	NM_032789		Approved	FLJ14464	uc003zal.4	Q53GL7		ENST00000313028.7:c.1413C>T	8.37:g.145058757G>A						PARP10_ENST00000525773.1_Silent_p.D483D|PARP10_ENST00000524918.1_Silent_p.D471D	p.D471D	NM_032789.3	NP_116178.2	Q53GL7	PAR10_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;1.31e-40)|Epithelial(56;1.16e-39)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		5	1507	-	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		471					Q8N2I0|Q8WV05|Q96CH7|Q96K72	Silent	SNP	ENST00000313028.7	37	c.1413C>T	CCDS34960.1																																																																																				0.617	PARP10-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000383866.1	NM_032789		13	24	0	0	0	1	0	13	24					A	145058757	G	A	145058757	2	1	435	1	0	0	0	0	0	0	0	1	11455	1136	40	1		1	PARP10	8	145058757	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	6795	145058757	1305265	4187	25112											
OPLAH	26873	broad.mit.edu	37	chr8	145106948	145106948	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgccccccgagccccccgccGcagctcgaagcggcgcagga	6	2	13	20	6	0	0	0	0	0	0	1	3	0	1	7	2	4	3	7	2	1	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:145106948G>A	ENST00000426825.1	-	25	3574	c.3493C>T	c.(3493-3495)Cgg>Tgg	p.R1165W	CTD-3065J16.6_ENST00000528912.1_RNA|CTD-3065J16.6_ENST00000561181.1_RNA|OPLAH_ENST00000534424.1_5'UTR	NM_017570.3	NP_060040.1	O14841	OPLA_HUMAN	5-oxoprolinase (ATP-hydrolysing)	1165					glutathione biosynthetic process (GO:0006750)|glutathione derivative biosynthetic process (GO:1901687)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	5-oxoprolinase (ATP-hydrolyzing) activity (GO:0017168)|ATP binding (GO:0005524)			breast(1)|central_nervous_system(1)|endometrium(1)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	20	all_cancers(97;1.06e-10)|all_epithelial(106;1.5e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;2.24e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GCCCCCCGCCGCAGCTCGAAG	0.741																																						ENST00000426825.1																			0				breast(1)|central_nervous_system(1)|endometrium(1)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	20						c.(3493-3495)Cgg>Tgg		5-oxoprolinase (ATP-hydrolysing)	L-Glutamic Acid(DB00142)						12	14	13					8																	145106948		1551	3517	5068	SO:0001583	missense	26873						5-oxoprolinase (ATP-hydrolyzing) activity|ATP binding	g.chr8:145106948G>A	AF024672, AB122018	CCDS75802.1	8q24.3	2010-11-23			ENSG00000178814	ENSG00000178814	3.5.2.9		8149	protein-coding gene	gene with protein product		614243				14993790	Standard	NM_017570		Approved	OPLA, 5-Opase	uc003zar.3	O14841		ENST00000426825.1:c.3493C>T	8.37:g.145106948G>A	ENSP00000475943:p.Arg1165Trp					OPLAH_ENST00000534424.1_5'UTR	p.R1165W	NM_017570.3	NP_060040.1	O14841	OPLA_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;2.24e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		25	3574	-	all_cancers(97;1.06e-10)|all_epithelial(106;1.5e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		1165					A5PKY8|Q75W65|Q9Y4Q0	Missense_Mutation	SNP	ENST00000426825.1	37	c.3493C>T		.	.	.	.	.	.	.	.	.	.	G	5.153	0.213863	0.09810	.	.	ENSG00000178814	ENST00000426825	.	.	.	4.31	0.444	0.16592	.	0.123147	0.53938	D	0.000055	T	0.65575	0.2704	.	.	.	0.44652	D	0.997636	D	0.89917	1.0	D	0.77557	0.99	T	0.70714	-0.4796	7	0.87932	D	0	.	7.1482	0.25595	0.1362:0.0:0.5919:0.2719	.	1165	O14841	OPLA_HUMAN	W	1165	.	ENSP00000412071:R1165W	R	-	1	2	OPLAH	145178936	0.001000	0.12720	0.760000	0.31359	0.249000	0.25844	-0.236000	0.09003	0.073000	0.16731	-0.281000	0.10026	CGG		0.741	OPLAH-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_017570		10	20	0	0	0	1	0	10	20					A	145106948	G	A	145106948	3	1	435	1	0	0	0	0	1	0	0	0	10876	1086	38	1	387	1	OPLAH	8	145106948	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	48191	145106948	1257074	4188	25113											
OPLAH	26873	broad.mit.edu	37	chr8	145107481	145107481	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagcctcggggaatgaccacGcgcactggcgccaggcagcc	8	3	15	15	4	0	1	0	1	0	0	1	3	0	2	4	4	2	2	4	4	1	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:145107481G>A	ENST00000426825.1	-	23	3255	c.3174C>T	c.(3172-3174)cgC>cgT	p.R1058R	CTD-3065J16.6_ENST00000528912.1_RNA|CTD-3065J16.6_ENST00000561181.1_RNA|OPLAH_ENST00000534424.1_5'UTR	NM_017570.3	NP_060040.1	O14841	OPLA_HUMAN	5-oxoprolinase (ATP-hydrolysing)	1058					glutathione biosynthetic process (GO:0006750)|glutathione derivative biosynthetic process (GO:1901687)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	5-oxoprolinase (ATP-hydrolyzing) activity (GO:0017168)|ATP binding (GO:0005524)			breast(1)|central_nervous_system(1)|endometrium(1)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	20	all_cancers(97;1.06e-10)|all_epithelial(106;1.5e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;2.24e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GAATGACCACGCGCACTGGCG	0.731																																						ENST00000426825.1																			0				breast(1)|central_nervous_system(1)|endometrium(1)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	20						c.(3172-3174)cgC>cgT		5-oxoprolinase (ATP-hydrolysing)	L-Glutamic Acid(DB00142)						7	9	8					8																	145107481		1807	3890	5697	SO:0001819	synonymous_variant	26873						5-oxoprolinase (ATP-hydrolyzing) activity|ATP binding	g.chr8:145107481G>A	AF024672, AB122018	CCDS75802.1	8q24.3	2010-11-23			ENSG00000178814	ENSG00000178814	3.5.2.9		8149	protein-coding gene	gene with protein product		614243				14993790	Standard	NM_017570		Approved	OPLA, 5-Opase	uc003zar.3	O14841		ENST00000426825.1:c.3174C>T	8.37:g.145107481G>A						OPLAH_ENST00000534424.1_5'UTR	p.R1058R	NM_017570.3	NP_060040.1	O14841	OPLA_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;2.24e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		23	3255	-	all_cancers(97;1.06e-10)|all_epithelial(106;1.5e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		1058					A5PKY8|Q75W65|Q9Y4Q0	Silent	SNP	ENST00000426825.1	37	c.3174C>T																																																																																					0.731	OPLAH-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_017570		7	9	0	0	0	1	0	7	9					A	145107481	G	A	145107481	2	1	435	1	0	0	0	0	0	0	0	1	10876	1074	38	1		1	OPLAH	8	145107481	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	533	145107481	1256541	4189	25114											
HSF1	3297	broad.mit.edu	37	chr8	145535865	145535865	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ggccacacggacaccgagggCcggcctccctcccccccgcc	5	2	11	23	4	0	0	0	0	0	0	2	2	2	1	9	4	0	0	9	4	0	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:145535865C>A	ENST00000528838.1	+	9	1237	c.1077C>A	c.(1075-1077)ggC>ggA	p.G359G	HSF1_ENST00000400780.4_Silent_p.G294G|GS1-393G12.12_ENST00000525023.1_RNA	NM_005526.2	NP_005517.1	Q00613	HSF1_HUMAN	heat shock transcription factor 1	359					cellular response to heat (GO:0034605)|defense response (GO:0006952)|embryonic placenta development (GO:0001892)|embryonic process involved in female pregnancy (GO:0060136)|female meiotic division (GO:0007143)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of tumor necrosis factor production (GO:0032720)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of spindle checkpoint (GO:0090231)|response to lipopolysaccharide (GO:0032496)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|pronucleus (GO:0045120)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II intronic transcription regulatory region sequence-specific DNA binding (GO:0001162)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|large_intestine(1)|lung(3)|prostate(3)|skin(1)|urinary_tract(2)	11	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.94e-40)|Epithelial(56;1.12e-39)|all cancers(56;9.11e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0547)|Colorectal(110;0.055)			ACACCGAGGGCCGGCCTCCCT	0.716																																						ENST00000528838.1																			0				endometrium(1)|large_intestine(1)|lung(3)|prostate(3)|skin(1)|urinary_tract(2)	11						c.(1075-1077)ggC>ggA		heat shock transcription factor 1							16	18	17					8																	145535865		2198	4295	6493	SO:0001819	synonymous_variant	3297					cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity	g.chr8:145535865C>A	M64673	CCDS6419.1	8q24.3	2014-04-10			ENSG00000185122	ENSG00000185122			5224	protein-coding gene	gene with protein product		140580				1871105	Standard	NM_005526		Approved	HSTF1	uc003zbt.4	Q00613	OTTHUMG00000174604	ENST00000528838.1:c.1077C>A	8.37:g.145535865C>A						HSF1_ENST00000400780.4_Silent_p.G294G	p.G359G	NM_005526.2	NP_005517.1	Q00613	HSF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;3.94e-40)|Epithelial(56;1.12e-39)|all cancers(56;9.11e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0547)|Colorectal(110;0.055)		9	1237	+	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		359					A8K4L0|A8MW26|Q53XT4	Silent	SNP	ENST00000528838.1	37	c.1077C>A	CCDS6419.1																																																																																				0.716	HSF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382053.1	NM_005526		5	9	1	0	0.00116845	1	0.0011864	5	9					A	145535865	C	A	145535865	2	1	435	1	0	0	0	0	0	0	0	1	7395	726	26	5		5	HSF1	8	145535865	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	428384	145535865	828157	4190	25115											
ADCK5	203054	broad.mit.edu	37	chr8	145616626	145616626	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	accctggagctcctgctgcgGctcgttgaggtcatgcaccc	5	9	12	15	2	1	1	1	1	0	0	3	2	2	2	3	3	4	5	3	3	0	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:145616626G>A	ENST00000308860.6	+	7	794	c.750G>A	c.(748-750)cgG>cgA	p.R250R	MIR939_ENST00000401314.1_RNA|ADCK5_ENST00000526231.2_3'UTR|CPSF1_ENST00000531727.1_5'Flank	NM_174922.3	NP_777582.4	Q3MIX3	ADCK5_HUMAN	aarF domain containing kinase 5	250	Protein kinase.					integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	protein serine/threonine kinase activity (GO:0004674)			endometrium(1)|lung(2)|prostate(2)|skin(1)|stomach(2)	8	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;8.96e-41)|Epithelial(56;4.08e-40)|all cancers(56;4.51e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055)			TCCTGCTGCGGCTCGTTGAGG	0.637																																						ENST00000308860.6																			0				endometrium(1)|lung(2)|prostate(2)|skin(1)|stomach(2)	8						c.(748-750)cgG>cgA		aarF domain containing kinase 5							60	59	60					8																	145616626		2202	4300	6502	SO:0001819	synonymous_variant	203054					integral to membrane	protein serine/threonine kinase activity	g.chr8:145616626G>A	BC032402	CCDS34965.1, CCDS34965.2	8q24.3	2004-07-06			ENSG00000173137	ENSG00000173137			21738	protein-coding gene	gene with protein product							Standard	NM_174922		Approved	FLJ35454	uc003zch.3	Q3MIX3	OTTHUMG00000165190	ENST00000308860.6:c.750G>A	8.37:g.145616626G>A						ADCK5_ENST00000526231.2_3'UTR	p.R250R	NM_174922.3	NP_777582.3	Q3MIX3	ADCK5_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;8.96e-41)|Epithelial(56;4.08e-40)|all cancers(56;4.51e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055)		7	794	+	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		250			Protein kinase.		B3KS46|Q5U4P1|Q6P2S4|Q8N5V3	Silent	SNP	ENST00000308860.6	37	c.750G>A	CCDS34965.1																																																																																				0.637	ADCK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382556.2	NM_174922		5	12	0	0	0	1	0	5	12					A	145616626	G	A	145616626	2	1	435	1	0	0	0	0	0	0	0	1	291	1190	42	3		3	ADCK5	8	145616626	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	80761	145616626	747396	4191	25116											
CPSF1	29894	broad.mit.edu	37	chr8	145622732	145622732	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ccattctcccgcaccagcagGcaccagtgggtaggctctgc	7	7	11	16	1	2	0	0	0	2	0	3	0	2	0	4	3	2	5	4	3	1	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:145622732G>A	ENST00000349769.3	-	22	2449	c.2355C>T	c.(2353-2355)tgC>tgT	p.C785C	MIR1234_ENST00000408875.1_RNA	NM_013291.2	NP_037423.2	Q10570	CPSF1_HUMAN	cleavage and polyadenylation specific factor 1, 160kDa	785					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA cleavage (GO:0006379)|mRNA export from nucleus (GO:0006406)|mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	mRNA cleavage and polyadenylation specificity factor complex (GO:0005847)|nucleoplasm (GO:0005654)	mRNA 3'-UTR binding (GO:0003730)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.88e-41)|Epithelial(56;1.67e-40)|all cancers(56;1.2e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055)			GCACCAGCAGGCACCAGTGGG	0.682																																					NSCLC(133;1088 1848 27708 34777 35269)	ENST00000349769.3																			0				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						c.(2353-2355)tgC>tgT		cleavage and polyadenylation specific factor 1, 160kDa							30	34	33					8																	145622732		2202	4298	6500	SO:0001819	synonymous_variant	29894				mRNA cleavage|mRNA export from nucleus|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage and polyadenylation specificity factor complex	mRNA 3'-UTR binding|protein binding	g.chr8:145622732G>A	U37012	CCDS34966.1	8q24	2014-05-06	2002-08-29		ENSG00000071894	ENSG00000071894			2324	protein-coding gene	gene with protein product		606027	"cleavage and polyadenylation specific factor 1, 160kD subunit"			7651824, 7590244	Standard	NM_013291		Approved		uc003zcj.3	Q10570	OTTHUMG00000174612	ENST00000349769.3:c.2355C>T	8.37:g.145622732G>A							p.C785C	NM_013291.2	NP_037423.2	Q10570	CPSF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.88e-41)|Epithelial(56;1.67e-40)|all cancers(56;1.2e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055)		22	2449	-	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		785					Q96AF0	Silent	SNP	ENST00000349769.3	37	c.2355C>T	CCDS34966.1																																																																																				0.682	CPSF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382422.2	NM_013291		7	12	0	0	0	1	0	7	12					A	145622732	G	A	145622732	2	1	435	1	0	0	0	0	0	0	0	1	3824	1195	42	3		3	CPSF1	8	145622732	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	6106	145622732	741290	4192	25117											
CPSF1	29894	broad.mit.edu	37	chr8	145626898	145626898	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacgctggccatggacatgaCgttgccaaagaaggagaagg	13	5	14	9	2	0	3	0	1	0	2	0	5	0	4	2	4	1	2	2	4	3	1	rs200367486		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:145626898C>T	ENST00000349769.3	-	4	326	c.232G>A	c.(232-234)Gtc>Atc	p.V78I	MIR1234_ENST00000408875.1_RNA	NM_013291.2	NP_037423.2	Q10570	CPSF1_HUMAN	cleavage and polyadenylation specific factor 1, 160kDa	78					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA cleavage (GO:0006379)|mRNA export from nucleus (GO:0006406)|mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	mRNA cleavage and polyadenylation specificity factor complex (GO:0005847)|nucleoplasm (GO:0005654)	mRNA 3'-UTR binding (GO:0003730)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.88e-41)|Epithelial(56;1.67e-40)|all cancers(56;1.2e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055)			ATGGACATGACGTTGCCAAAG	0.627													C|||	1	0.000199681	0	0.0014	5008	,	,		14105	0		0	False		,,,				2504	0				NSCLC(133;1088 1848 27708 34777 35269)	ENST00000349769.3																			0				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						c.(232-234)Gtc>Atc		cleavage and polyadenylation specific factor 1, 160kDa							83	74	77					8																	145626898		2203	4300	6503	SO:0001583	missense	29894				mRNA cleavage|mRNA export from nucleus|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage and polyadenylation specificity factor complex	mRNA 3'-UTR binding|protein binding	g.chr8:145626898C>T	U37012	CCDS34966.1	8q24	2014-05-06	2002-08-29		ENSG00000071894	ENSG00000071894			2324	protein-coding gene	gene with protein product		606027	"cleavage and polyadenylation specific factor 1, 160kD subunit"			7651824, 7590244	Standard	NM_013291		Approved		uc003zcj.3	Q10570	OTTHUMG00000174612	ENST00000349769.3:c.232G>A	8.37:g.145626898C>T	ENSP00000339353:p.Val78Ile						p.V78I	NM_013291.2	NP_037423.2	Q10570	CPSF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.88e-41)|Epithelial(56;1.67e-40)|all cancers(56;1.2e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055)		4	326	-	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		78					Q96AF0	Missense_Mutation	SNP	ENST00000349769.3	37	c.232G>A	CCDS34966.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	12.85	2.061439	0.36373	.	.	ENSG00000071894	ENST00000349769;ENST00000531042	T	0.46819	0.86	4.31	4.31	0.51392	.	0.070528	0.56097	D	0.000038	T	0.29716	0.0742	N	0.16037	0.36	0.49798	D	0.999828	B;B	0.20261	0.042;0.043	B;B	0.18561	0.022;0.01	T	0.08764	-1.0706	10	0.15952	T	0.53	-47.5297	14.3365	0.66595	0.0:1.0:0.0:0.0	.	78;78	B4DEF4;Q10570	.;CPSF1_HUMAN	I	78	ENSP00000339353:V78I	ENSP00000339353:V78I	V	-	1	0	CPSF1	145597706	0.817000	0.29147	0.997000	0.53966	0.881000	0.50899	1.345000	0.33953	2.238000	0.73509	0.561000	0.74099	GTC		0.627	CPSF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382422.2	NM_013291		6	11	0	0	0	1	0	6	11					T	145626898	C	T	145626898	3	4	435	1	0	0	0	0	1	0	0	0	3824	536	19	1	4239	1	CPSF1	8	145626898	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	4166	145626898	737124	4193	25118											
VPS28	51160	broad.mit.edu	37	chr8	145651576	145651576	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cactcacctcatacagctccGgcttgttcccaggggctgca	7	9	9	16	1	2	0	2	0	0	0	4	0	4	0	3	3	3	5	3	3	1	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:145651576G>A	ENST00000526054.1	-	2	90	c.53C>T	c.(52-54)cCg>cTg	p.P18L	VPS28_ENST00000292510.4_Missense_Mutation_p.P18L|VPS28_ENST00000377348.2_Missense_Mutation_p.P18L|VPS28_ENST00000529182.1_Missense_Mutation_p.P18L|VPS28_ENST00000526734.1_5'UTR			Q9UK41	VPS28_HUMAN	vacuolar protein sorting 28 homolog (S. cerevisiae)	18	VPS28 N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00645}.				endosomal transport (GO:0016197)|intracellular transport of virus (GO:0075733)|membrane organization (GO:0061024)|negative regulation of protein ubiquitination (GO:0031397)|protein transport (GO:0015031)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral protein processing (GO:0019082)|virion assembly (GO:0019068)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|endosome membrane (GO:0010008)|ESCRT I complex (GO:0000813)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)				kidney(1)|large_intestine(1)|lung(4)|prostate(1)	7	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;8.67e-41)|all cancers(56;1.1e-35)|BRCA - Breast invasive adenocarcinoma(115;0.035)|Colorectal(110;0.055)			ATACAGCTCCGGCTTGTTCCC	0.627																																						ENST00000377348.2																			0				kidney(1)|large_intestine(1)|lung(4)|prostate(1)	7						c.(52-54)cCg>cTg		vacuolar protein sorting 28 homolog (S. cerevisiae)							22	21	21					8																	145651576		2193	4297	6490	SO:0001583	missense	51160				cellular membrane organization|endosome transport|negative regulation of protein ubiquitination|protein transport	cytosol|late endosome membrane|plasma membrane	protein binding	g.chr8:145651576G>A	AF316887	CCDS6425.1, CCDS34967.1	8q24.3	2014-08-12	2006-04-04		ENSG00000160948	ENSG00000160948			18178	protein-coding gene	gene with protein product		611952	"vacuolar protein sorting 28 (yeast)"				Standard	NM_183057		Approved		uc003zct.1	Q9UK41	OTTHUMG00000165209	ENST00000526054.1:c.53C>T	8.37:g.145651576G>A	ENSP00000434064:p.Pro18Leu					VPS28_ENST00000529182.1_Missense_Mutation_p.P18L|VPS28_ENST00000526734.1_5'UTR|VPS28_ENST00000526054.1_Missense_Mutation_p.P18L|VPS28_ENST00000292510.4_Missense_Mutation_p.P18L	p.P18L	NM_183057.1	NP_898880.1	Q9UK41	VPS28_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;8.67e-41)|all cancers(56;1.1e-35)|BRCA - Breast invasive adenocarcinoma(115;0.035)|Colorectal(110;0.055)		3	142	-	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		18			VPS28 N-terminal.		Q86VK0	Missense_Mutation	SNP	ENST00000526054.1	37	c.53C>T	CCDS6425.1	.	.	.	.	.	.	.	.	.	.	g	27.1	4.801599	0.90538	.	.	ENSG00000160948	ENST00000529182;ENST00000526054;ENST00000292510;ENST00000377348;ENST00000533806;ENST00000531032;ENST00000530790	.	.	.	5.09	5.09	0.68999	Vacuolar protein sorting-associated, VPS28, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.71813	0.3384	L	0.56340	1.77	0.80722	D	1	D;D	0.71674	0.997;0.998	P;P	0.62184	0.899;0.864	T	0.67764	-0.5586	9	0.26408	T	0.33	.	16.3554	0.83234	0.0:0.0:1.0:0.0	.	18;18	Q9UK41-2;Q9UK41	.;VPS28_HUMAN	L	18	.	ENSP00000292510:P18L	P	-	2	0	VPS28	145622384	1.000000	0.71417	0.976000	0.42696	0.971000	0.66376	5.949000	0.70257	2.515000	0.84797	0.650000	0.86243	CCG		0.627	VPS28-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382694.1			6	2	0	0	0	1	0	6	2					A	145651576	G	A	145651576	3	1	435	1	0	0	0	0	1	0	0	0	17196	1116	39	2	758	2	VPS28	8	145651576	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	24678	145651576	712446	4194	25119											
NFKBIL2	4796	broad.mit.edu	37	chr8	145659037	145659037	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggggccgaagccacacgcctGcaggcgcagggtgctgagta	8	4	17	12	3	0	1	0	1	0	0	0	2	0	1	3	4	3	4	3	4	2	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:145659037G>A	ENST00000409379.3	-	22	3522	c.3493C>T	c.(3493-3495)Cag>Tag	p.Q1165*	AC084125.4_ENST00000544423.1_RNA	NM_013432.4	NP_038460.4	Q96HA7	TONSL_HUMAN	tonsoku-like, DNA repair protein	1165					cytoplasmic sequestering of transcription factor (GO:0042994)|double-strand break repair via homologous recombination (GO:0000724)|regulation of RNA biosynthetic process (GO:2001141)|replication fork processing (GO:0031297)	cytoplasm (GO:0005737)|nuclear replication fork (GO:0043596)|nucleus (GO:0005634)	histone binding (GO:0042393)|transcription corepressor activity (GO:0003714)			biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|lung(14)|ovary(3)|prostate(1)|skin(1)	26						CCACACGCCTGCAGGCGCAGG	0.642																																						ENST00000409379.3																			0				biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|lung(14)|ovary(3)|prostate(1)|skin(1)	26						c.(3493-3495)Cag>Tag		tonsoku-like, DNA repair protein							51	57	55					8																	145659037		2203	4300	6503	SO:0001587	stop_gained	4796				cytoplasmic sequestering of transcription factor|double-strand break repair via homologous recombination|replication fork processing	cytoplasm|nuclear replication fork	histone binding|transcription corepressor activity	g.chr8:145659037G>A		CCDS34968.2	8q24.3	2013-01-10	2010-12-02	2010-11-30	ENSG00000160949	ENSG00000160949		"Ankyrin repeat domain containing"	7801	protein-coding gene	gene with protein product		604546	"nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor-like 2"	NFKBIL2		7738005, 11246458	Standard	NM_013432		Approved	IKBR	uc011llg.2	Q96HA7	OTTHUMG00000153122	ENST00000409379.3:c.3493C>T	8.37:g.145659037G>A	ENSP00000386239:p.Gln1165*						p.Q1165*	NM_013432.4	NP_038460.4	Q96HA7	TONSL_HUMAN			22	3522	-			1165					B5MDP0|C9JKB1|C9JNV8|Q13006|Q9UGJ2	Nonsense_Mutation	SNP	ENST00000409379.3	37	c.3493C>T	CCDS34968.2	.	.	.	.	.	.	.	.	.	.	g	38	6.656512	0.97739	.	.	ENSG00000160949	ENST00000409379;ENST00000422691	.	.	.	5.2	5.2	0.72013	.	0.134719	0.51477	D	0.000088	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	-18.7038	16.2225	0.82267	0.0:0.0:1.0:0.0	.	.	.	.	X	1165;1164	.	ENSP00000386239:Q1165X	Q	-	1	0	TONSL	145629845	1.000000	0.71417	0.977000	0.42913	0.008000	0.06430	5.471000	0.66762	2.438000	0.82558	0.462000	0.41574	CAG		0.642	TONSL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329668.2	NM_013432		7	51	0	0	0	1	0	7	51					A	145659037	G	A	145659037	4	1	435	1	0	0	0	0	0	1	0	0	10382	1328	46	3	663	3	NFKBIL2	8	145659037	Nonsense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	7461	145659037	704985	4195	25120											
NFKBIL2	4796	broad.mit.edu	37	chr8	145661958	145661958	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgccttggcccgaggcagccGcctggagcagcatctccatg	6	7	13	15	2	1	0	0	0	1	0	2	2	1	1	5	3	4	3	5	3	0	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:145661958G>A	ENST00000409379.3	-	16	2026	c.1997C>T	c.(1996-1998)gCg>gTg	p.A666V	AC084125.4_ENST00000442850.1_RNA|AC084125.4_ENST00000544423.1_RNA	NM_013432.4	NP_038460.4	Q96HA7	TONSL_HUMAN	tonsoku-like, DNA repair protein	666					cytoplasmic sequestering of transcription factor (GO:0042994)|double-strand break repair via homologous recombination (GO:0000724)|regulation of RNA biosynthetic process (GO:2001141)|replication fork processing (GO:0031297)	cytoplasm (GO:0005737)|nuclear replication fork (GO:0043596)|nucleus (GO:0005634)	histone binding (GO:0042393)|transcription corepressor activity (GO:0003714)	p.A507V(1)|p.A666V(1)		biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|lung(14)|ovary(3)|prostate(1)|skin(1)	26						CGAGGCAGCCGCCTGGAGCAG	0.667																																						ENST00000409379.3																			2	Substitution - Missense(2)	p.A507V(1)|p.A666V(1)	lung(2)	biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|lung(14)|ovary(3)|prostate(1)|skin(1)	26						c.(1996-1998)gCg>gTg		tonsoku-like, DNA repair protein							37	41	40					8																	145661958		2203	4300	6503	SO:0001583	missense	4796				cytoplasmic sequestering of transcription factor|double-strand break repair via homologous recombination|replication fork processing	cytoplasm|nuclear replication fork	histone binding|transcription corepressor activity	g.chr8:145661958G>A		CCDS34968.2	8q24.3	2013-01-10	2010-12-02	2010-11-30	ENSG00000160949	ENSG00000160949		"Ankyrin repeat domain containing"	7801	protein-coding gene	gene with protein product		604546	"nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor-like 2"	NFKBIL2		7738005, 11246458	Standard	NM_013432		Approved	IKBR	uc011llg.2	Q96HA7	OTTHUMG00000153122	ENST00000409379.3:c.1997C>T	8.37:g.145661958G>A	ENSP00000386239:p.Ala666Val					AC084125.4_ENST00000544423.1_RNA	p.A666V	NM_013432.4	NP_038460.4	Q96HA7	TONSL_HUMAN			16	2026	-			666					B5MDP0|C9JKB1|C9JNV8|Q13006|Q9UGJ2	Missense_Mutation	SNP	ENST00000409379.3	37	c.1997C>T	CCDS34968.2	.	.	.	.	.	.	.	.	.	.	G	2.416	-0.334164	0.05278	.	.	ENSG00000160949	ENST00000409379;ENST00000422691	T	0.51574	0.7	4.73	2.9	0.33743	.	0.684591	0.13847	N	0.358600	T	0.24699	0.0599	N	0.12182	0.205	0.09310	N	1	B	0.12630	0.006	B	0.06405	0.002	T	0.16129	-1.0413	10	0.28530	T	0.3	-2.5174	3.9633	0.09420	0.2067:0.0:0.6064:0.1868	.	666	Q96HA7	TONSL_HUMAN	V	666;665	ENSP00000386239:A666V	ENSP00000386239:A666V	A	-	2	0	TONSL	145632766	0.000000	0.05858	0.005000	0.12908	0.023000	0.10783	0.576000	0.23744	0.401000	0.25424	0.462000	0.41574	GCG		0.667	TONSL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329668.2	NM_013432		15	23	0	0	0	1	0	15	23					A	145661958	G	A	145661958	3	1	435	1	0	0	0	0	1	0	0	0	10382	1087	38	1	2183	1	NFKBIL2	8	145661958	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	2921	145661958	702064	4196	25121											
NFKBIL2	4796	broad.mit.edu	37	chr8	145667732	145667732	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctgggagtgctggcccgcGcgccagtggatggtgcccag	4	6	18	13	3	0	0	0	0	0	0	0	2	0	2	4	4	2	1	4	4	0	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:145667732G>A	ENST00000409379.3	-	6	671	c.642C>T	c.(640-642)cgC>cgT	p.R214R	AC084125.4_ENST00000442850.1_RNA	NM_013432.4	NP_038460.4	Q96HA7	TONSL_HUMAN	tonsoku-like, DNA repair protein	214					cytoplasmic sequestering of transcription factor (GO:0042994)|double-strand break repair via homologous recombination (GO:0000724)|regulation of RNA biosynthetic process (GO:2001141)|replication fork processing (GO:0031297)	cytoplasm (GO:0005737)|nuclear replication fork (GO:0043596)|nucleus (GO:0005634)	histone binding (GO:0042393)|transcription corepressor activity (GO:0003714)			biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|lung(14)|ovary(3)|prostate(1)|skin(1)	26						GCTGGCCCGCGCGCCAGTGGA	0.642																																						ENST00000409379.3																			0				biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|lung(14)|ovary(3)|prostate(1)|skin(1)	26						c.(640-642)cgC>cgT		tonsoku-like, DNA repair protein							40	40	40					8																	145667732		2200	4298	6498	SO:0001819	synonymous_variant	4796				cytoplasmic sequestering of transcription factor|double-strand break repair via homologous recombination|replication fork processing	cytoplasm|nuclear replication fork	histone binding|transcription corepressor activity	g.chr8:145667732G>A		CCDS34968.2	8q24.3	2013-01-10	2010-12-02	2010-11-30	ENSG00000160949	ENSG00000160949		"Ankyrin repeat domain containing"	7801	protein-coding gene	gene with protein product		604546	"nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor-like 2"	NFKBIL2		7738005, 11246458	Standard	NM_013432		Approved	IKBR	uc011llg.2	Q96HA7	OTTHUMG00000153122	ENST00000409379.3:c.642C>T	8.37:g.145667732G>A							p.R214R	NM_013432.4	NP_038460.4	Q96HA7	TONSL_HUMAN			6	671	-			214					B5MDP0|C9JKB1|C9JNV8|Q13006|Q9UGJ2	Silent	SNP	ENST00000409379.3	37	c.642C>T	CCDS34968.2																																																																																				0.642	TONSL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329668.2	NM_013432		8	10	0	0	0	1	0	8	10					A	145667732	G	A	145667732	2	1	435	1	0	0	0	0	0	0	0	1	10382	1074	38	1		1	NFKBIL2	8	145667732	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	5774	145667732	696290	4197	25122											
RECQL4	113655	broad.mit.edu	37	chr8	145737881	145737881	+	IGR	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	accatgtcaaactccacggaGctgctgccttgccctgggtc	7	9	10	15	1	1	0	1	0	0	0	3	1	2	1	4	2	5	2	4	2	1	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:145737881G>A	ENST00000301327.4	+	0	1548				RECQL4_ENST00000428558.2_Silent_p.S983S|CTD-2517M22.17_ENST00000580385.1_RNA|RECQL4_ENST00000532237.1_5'UTR	NM_138431.1	NP_612440.1	Q96ES6	MFSD3_HUMAN	major facilitator superfamily domain containing 3						transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)				central_nervous_system(2)|endometrium(1)|kidney(1)|lung(4)	8	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			ACTCCACGGAGCTGCTGCCTT	0.647																																						ENST00000428558.2										"N, F, S"						"osteosarcoma, skin basal and sqamous cell"			0				breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|lung(10)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	26						c.(2947-2949)agC>agT	Genes defective in diseases associated with sensitivity to DNA damaging agents	RecQ protein-like 4							32	41	38					8																	145737881		2090	4214	6304	SO:0001628	intergenic_variant	9401	Rothmund-Thomson syndrome;RAPADILINO syndrome;Baller-Gerold syndrome			DNA duplex unwinding|DNA recombination|DNA repair	cytoplasm|nucleus	ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|DNA strand annealing activity|zinc ion binding	g.chr8:145737881G>A		CCDS6431.1	8q24.3	2005-11-17			ENSG00000167700	ENSG00000167700			25157	protein-coding gene	gene with protein product							Standard	NM_138431		Approved		uc003zdi.1	Q96ES6	OTTHUMG00000165177		8.37:g.145737881G>A						RECQL4_ENST00000532237.1_5'UTR	p.S983S	NM_004260.3	NP_004251.3	O94761	RECQ4_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)		18	2990	-	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		983						Silent	SNP	ENST00000301327.4	37	c.2949C>T	CCDS6431.1																																																																																				0.647	MFSD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382478.2	NM_138431		11	26	0	0	0	1	0	11	26					A	145737881	G	A	145737881	1	1	435	0	1	0	0	0	0	0	0	0	13202	962	34	3		3	RECQL4	8	145737881	IGR	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	70149	145737881	626141	4198	25123											
ZNF251	90987	broad.mit.edu	37	chr8	145947855	145947855	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtttctctccagtatgaaccCgatgatggaggaaaaggctt	11	11	11	8	1	1	2	0	2	1	0	3	5	2	4	2	3	1	3	2	3	4	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:145947855C>T	ENST00000292562.7	-	5	1465	c.1190G>A	c.(1189-1191)cGg>cAg	p.R397Q	ZNF251_ENST00000524394.1_Intron	NM_138367.1	NP_612376.1	Q9BRH9	ZN251_HUMAN	zinc finger protein 251	397					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			autonomic_ganglia(1)|kidney(1)|large_intestine(5)|lung(9)|stomach(1)	17	all_cancers(97;3.54e-11)|all_epithelial(106;2.65e-10)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.75e-39)|Epithelial(56;7.54e-38)|all cancers(56;6.19e-33)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.11)	GBM - Glioblastoma multiforme(99;0.198)		AGTATGAACCCGATGATGGAG	0.448																																						ENST00000292562.7																			0				autonomic_ganglia(1)|kidney(1)|large_intestine(5)|lung(9)|stomach(1)	17						c.(1189-1191)cGg>cAg		zinc finger protein 251							114	127	123					8																	145947855		2171	4279	6450	SO:0001583	missense	90987				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr8:145947855C>T	AK000435	CCDS47944.1	8q24.3	2013-01-08			ENSG00000198169	ENSG00000198169		"Zinc fingers, C2H2-type", "-"	13045	protein-coding gene	gene with protein product							Standard	NM_138367		Approved		uc003zdv.4	Q9BRH9	OTTHUMG00000165189	ENST00000292562.7:c.1190G>A	8.37:g.145947855C>T	ENSP00000292562:p.Arg397Gln					ZNF251_ENST00000524394.1_Intron	p.R397Q	NM_138367.1	NP_612376.1	Q9BRH9	ZN251_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.75e-39)|Epithelial(56;7.54e-38)|all cancers(56;6.19e-33)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.11)	GBM - Glioblastoma multiforme(99;0.198)	5	1465	-	all_cancers(97;3.54e-11)|all_epithelial(106;2.65e-10)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		397					Q2M219	Missense_Mutation	SNP	ENST00000292562.7	37	c.1190G>A	CCDS47944.1	.	.	.	.	.	.	.	.	.	.	C	16.93	3.257038	0.59321	.	.	ENSG00000198169	ENST00000292562	T	0.24723	1.84	2.71	1.8	0.24995	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.39963	0.1098	L	0.58925	1.835	0.20307	N	0.999919	D	0.89917	1.0	D	0.71656	0.974	T	0.10989	-1.0606	9	0.87932	D	0	-12.9046	4.7959	0.13272	0.2162:0.6506:0.0:0.1332	.	397	Q9BRH9	ZN251_HUMAN	Q	397	ENSP00000292562:R397Q	ENSP00000292562:R397Q	R	-	2	0	ZNF251	145918664	0.000000	0.05858	0.964000	0.40570	0.994000	0.84299	0.186000	0.16978	1.521000	0.48983	0.563000	0.77884	CGG		0.448	ZNF251-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382541.1	NM_138367		46	89	0	0	0	1	0	46	89					T	145947855	C	T	145947855	3	4	435	1	0	0	0	0	1	0	0	0	17793	652	23	2	829	2	ZNF251	8	145947855	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	209974	145947855	416167	4199	25124											
ZNF34	80778	broad.mit.edu	37	chr8	145998963	145998963	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tggatgaggtgtgtgctttgGctgaaaactttgccacagtc	8	13	13	7	0	0	2	0	2	0	0	1	3	0	3	1	3	3	2	1	3	2	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:145998963G>A	ENST00000343459.4	-	6	1436	c.1371C>T	c.(1369-1371)agC>agT	p.S457S	ZNF34_ENST00000429371.2_Silent_p.S436S			Q8IZ26	ZNF34_HUMAN	zinc finger protein 34	457					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.S457R(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|skin(1)	11	all_cancers(97;3.54e-11)|all_epithelial(106;2.65e-10)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;0.221)	OV - Ovarian serous cystadenocarcinoma(54;2.75e-39)|Epithelial(56;5.18e-38)|all cancers(56;4.41e-33)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.11)	GBM - Glioblastoma multiforme(99;0.0179)		GTGTGCTTTGGCTGAAAACTT	0.488																																						ENST00000429371.2																			1	Substitution - Missense(1)	p.S457R(1)	lung(1)	endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|skin(1)	11						c.(1306-1308)agC>agT		zinc finger protein 34							83	84	84					8																	145998963		2203	4300	6503	SO:0001819	synonymous_variant	80778				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr8:145998963G>A	BC028136	CCDS47945.1, CCDS69562.1	8q24	2013-01-08	2006-05-11					"Zinc fingers, C2H2-type", "-"	13098	protein-coding gene	gene with protein product		194526	"zinc finger protein 34 (KOX 32)"			8104631, 2014798	Standard	XM_005272349		Approved	KOX32	uc003zdy.4	Q8IZ26		ENST00000343459.4:c.1371C>T	8.37:g.145998963G>A						ZNF34_ENST00000343459.4_Silent_p.S457S	p.S436S	NM_030580.3	NP_085057.3	Q8IZ26	ZNF34_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.75e-39)|Epithelial(56;5.18e-38)|all cancers(56;4.41e-33)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.11)	GBM - Glioblastoma multiforme(99;0.0179)	6	1461	-	all_cancers(97;3.54e-11)|all_epithelial(106;2.65e-10)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;0.221)	457					D3DWN1|Q9BSZ0	Silent	SNP	ENST00000343459.4	37	c.1308C>T	CCDS47945.1																																																																																				0.488	ZNF34-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000382936.1	NM_030580		9	32	0	0	0	1	0	9	32					A	145998963	G	A	145998963	2	1	435	1	0	0	0	0	0	0	0	1	17853	1194	42	3		3	ZNF34	8	145998963	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	51108	145998963	365059	4200	25125											
ZNF250	58500	broad.mit.edu	37	chr8	146107193	146107193	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctcatgctggatcagagaccGgcgtgcactgaaggcgtgcc	8	7	14	12	3	2	2	2	1	0	1	2	4	2	3	2	3	3	2	2	3	1	0	rs141960807		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:146107193G>A	ENST00000292579.7	-	6	1506	c.1390C>T	c.(1390-1392)Cgg>Tgg	p.R464W	ZNF250_ENST00000342660.6_Intron|ZNF250_ENST00000543949.1_Intron|ZNF250_ENST00000417550.2_Missense_Mutation_p.R459W	NM_001109689.3|NM_021061.4	NP_001103159.1|NP_066405.1	P15622	ZN250_HUMAN	zinc finger protein 250	464					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(4)|kidney(2)|lung(8)|skin(1)	15	all_cancers(97;8.72e-12)|all_epithelial(106;1.07e-10)|Lung NSC(106;7.18e-05)|all_lung(105;0.00021)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Epithelial(56;2.53e-38)|OV - Ovarian serous cystadenocarcinoma(54;4.07e-38)|all cancers(56;2.27e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;0.0654)		ATCAGAGACCGGCGTGCACTG	0.547																																					NSCLC(16;520 556 24096 40084 43446)	ENST00000292579.7																			0				endometrium(4)|kidney(2)|lung(8)|skin(1)	15						c.(1390-1392)Cgg>Tgg		zinc finger protein 250		G	TRP/ARG,TRP/ARG	0,4406		0,0,2203	89	82	85		1375,1390	-2.2	0	8	dbSNP_134	85	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	ZNF250	NM_001109689.3,NM_021061.4	101,101	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging	459/556,464/561	146107193	1,13005	2203	4300	6503	SO:0001583	missense	58500				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr8:146107193G>A	AK095705	CCDS34972.1, CCDS55282.1	8q24.3	2013-01-08	2004-11-08			ENSG00000196150		"Zinc fingers, C2H2-type", "-"	13044	protein-coding gene	gene with protein product			"zinc finger protein 647"	ZNF647		12477932	Standard	NM_021061		Approved	MGC9718, ZFP647	uc003zer.4	P15622		ENST00000292579.7:c.1390C>T	8.37:g.146107193G>A	ENSP00000292579:p.Arg464Trp					ZNF250_ENST00000543949.1_Intron|ZNF250_ENST00000342660.6_Intron|ZNF250_ENST00000417550.2_Missense_Mutation_p.R459W	p.R464W	NM_001109689.3|NM_021061.4	NP_001103159.1|NP_066405.1	P15622	ZN250_HUMAN	Epithelial(56;2.53e-38)|OV - Ovarian serous cystadenocarcinoma(54;4.07e-38)|all cancers(56;2.27e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;0.0654)	6	1506	-	all_cancers(97;8.72e-12)|all_epithelial(106;1.07e-10)|Lung NSC(106;7.18e-05)|all_lung(105;0.00021)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		464					D3DWP1|Q59HE9|Q8N942|Q96AH9	Missense_Mutation	SNP	ENST00000292579.7	37	c.1390C>T	CCDS34972.1	.	.	.	.	.	.	.	.	.	.	G	10.12	1.262148	0.23051	0.0	1.16E-4	ENSG00000196150	ENST00000292579;ENST00000417550	T;T	0.08102	3.13;3.13	4.11	-2.24	0.06909	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.314890	0.23026	N	0.052785	T	0.09335	0.0230	L	0.41906	1.305	0.09310	N	1	D;D	0.76494	0.988;0.999	P;P	0.50570	0.644;0.642	T	0.15350	-1.0440	10	0.72032	D	0.01	-23.2621	8.1269	0.31003	0.1722:0.0:0.5519:0.2759	.	459;464	D3DWP1;P15622	.;ZN250_HUMAN	W	464;459	ENSP00000292579:R464W;ENSP00000393442:R459W	ENSP00000292579:R464W	R	-	1	2	ZNF250	146077997	0.000000	0.05858	0.029000	0.17559	0.174000	0.22865	-1.945000	0.01537	-0.395000	0.07715	0.491000	0.48974	CGG		0.547	ZNF250-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382968.1	NM_021061		16	18	0	0	0	1	0	16	18					A	146107193	G	A	146107193	3	1	435	1	0	0	0	0	1	0	0	0	17792	1115	39	2	296	2	ZNF250	8	146107193	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	108230	146107193	256829	4201	25126											
ZNF16	7564	broad.mit.edu	37	chr8	146157095	146157095	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttgatgaggtttgagcttcGcctgaaggccttcccacact	7	13	10	11	1	0	4	0	4	0	0	2	4	1	4	3	2	1	2	3	2	1	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:146157095G>A	ENST00000276816.4	-	4	1264	c.1078C>T	c.(1078-1080)Cga>Tga	p.R360*	ZNF16_ENST00000394909.2_Nonsense_Mutation_p.R360*	NM_001029976.2	NP_001025147.2	P17020	ZNF16_HUMAN	zinc finger protein 16	360	Required for nuclear localization.				cell cycle (GO:0007049)|cell division (GO:0051301)|cellular response to sodium dodecyl sulfate (GO:0072707)|negative regulation of apoptotic process (GO:0043066)|positive regulation of cell cycle phase transition (GO:1901989)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of kinase activity (GO:0033674)|positive regulation of megakaryocyte differentiation (GO:0045654)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(1)|kidney(4)|large_intestine(5)|lung(9)|ovary(5)|prostate(1)|skin(1)|urinary_tract(1)	29	all_cancers(97;8.72e-12)|all_epithelial(106;1.07e-10)|Lung NSC(106;7.18e-05)|all_lung(105;0.00021)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;0.136)	Epithelial(56;3.45e-38)|all cancers(56;3.04e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0424)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;0.02)|KIRC - Kidney renal clear cell carcinoma(644;0.0486)		TTTGAGCTTCGCCTGAAGGCC	0.522																																						ENST00000276816.4																			0				breast(2)|endometrium(1)|kidney(4)|large_intestine(5)|lung(9)|ovary(5)|prostate(1)|skin(1)|urinary_tract(1)	29						c.(1078-1080)Cga>Tga		zinc finger protein 16							96	98	97					8																	146157095		2203	4300	6503	SO:0001587	stop_gained	7564				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr8:146157095G>A	X52340	CCDS6437.1	8q24	2013-01-08	2006-05-10		ENSG00000170631	ENSG00000170631		"Zinc fingers, C2H2-type"	12947	protein-coding gene	gene with protein product		601262	"zinc finger protein 16 (KOX 9)"				Standard	NM_006958		Approved	KOX9	uc003zeu.3	P17020	OTTHUMG00000165253	ENST00000276816.4:c.1078C>T	8.37:g.146157095G>A	ENSP00000276816:p.Arg360*					ZNF16_ENST00000394909.2_Nonsense_Mutation_p.R360*	p.R360*	NM_001029976.2	NP_001025147.2	P17020	ZNF16_HUMAN	Epithelial(56;3.45e-38)|all cancers(56;3.04e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0424)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;0.02)|KIRC - Kidney renal clear cell carcinoma(644;0.0486)	4	1264	-	all_cancers(97;8.72e-12)|all_epithelial(106;1.07e-10)|Lung NSC(106;7.18e-05)|all_lung(105;0.00021)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;0.136)	360					B3KXM4|D3DWP2|Q45SH7|Q96FG0|Q9NRA4	Nonsense_Mutation	SNP	ENST00000276816.4	37	c.1078C>T	CCDS6437.1	.	.	.	.	.	.	.	.	.	.	G	35	5.530439	0.96446	.	.	ENSG00000170631	ENST00000276816;ENST00000394909	.	.	.	4.02	3.11	0.35812	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.16896	T	0.51	.	10.9808	0.47492	0.0978:0.0:0.9022:0.0	.	.	.	.	X	360	.	ENSP00000276816:R360X	R	-	1	2	ZNF16	146127899	0.000000	0.05858	1.000000	0.80357	0.910000	0.53928	-1.039000	0.03550	2.056000	0.61249	0.563000	0.77884	CGA		0.522	ZNF16-002	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000382978.1	NM_006958		23	29	0	0	0	1	0	23	29					A	146157095	G	A	146157095	4	1	435	1	0	0	0	0	0	1	0	0	17735	1095	38	1	974	1	ZNF16	8	146157095	Nonsense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	49902	146157095	206927	4202	25127											
FOXD4	2298	broad.mit.edu	37	chr9	118076	118076	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	catcggagtcccggaggctgCgctgcggtgtggagcgaagg	6	6	19	10	5	0	0	0	0	0	0	2	4	1	3	1	6	3	2	1	6	1	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:118076C>T	ENST00000382500.2	-	1	341	c.44G>A	c.(43-45)cGc>cAc	p.R15H		NM_207305.4	NP_997188.2	Q12950	FOXD4_HUMAN	forkhead box D4	15					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding, bending (GO:0008301)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(5)|large_intestine(2)|lung(3)|prostate(1)|skin(3)	14	all_lung(41;0.218)	all_cancers(5;0.0395)|Acute lymphoblastic leukemia(5;1.91e-07)|all_hematologic(5;1.95e-06)	Kidney(42;0.112)|KIRC - Kidney renal clear cell carcinoma(5;0.157)	all cancers(5;0.000704)|Lung(218;0.00755)|GBM - Glioblastoma multiforme(5;0.0149)|Epithelial(6;0.0154)		CCGGAGGCTGCGCTGCGGTGT	0.642																																						ENST00000382500.2																			0				endometrium(5)|large_intestine(2)|lung(3)|prostate(1)|skin(3)	14						c.(43-45)cGc>cAc		forkhead box D4							60	70	67					9																	118076		2180	4259	6439	SO:0001583	missense	2298				axon extension involved in axon guidance|cartilage development|dichotomous subdivision of terminal units involved in ureteric bud branching|embryo development|enteric nervous system development|iridophore differentiation|lateral line nerve glial cell development|melanocyte differentiation|neural crest cell migration|pattern specification process|peripheral nervous system development|positive regulation of BMP signaling pathway|positive regulation of kidney development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chr9:118076C>T	U13223	CCDS34975.1	9p24.3	2014-09-17			ENSG00000170122	ENSG00000170122		"Forkhead boxes"	3805	protein-coding gene	gene with protein product		601092		FKHL9		7957066, 8825632, 12234674	Standard	NM_207305		Approved	FREAC5, FOXD4a	uc003zfz.4	Q12950	OTTHUMG00000021015	ENST00000382500.2:c.44G>A	9.37:g.118076C>T	ENSP00000371940:p.Arg15His						p.R15H	NM_207305.4	NP_997188.2	Q12950	FOXD4_HUMAN	Kidney(42;0.112)|KIRC - Kidney renal clear cell carcinoma(5;0.157)	all cancers(5;0.000704)|Lung(218;0.00755)|GBM - Glioblastoma multiforme(5;0.0149)|Epithelial(6;0.0154)	1	341	-	all_lung(41;0.218)	all_cancers(5;0.0395)|Acute lymphoblastic leukemia(5;1.91e-07)|all_hematologic(5;1.95e-06)	15					B2RN05|B9EGL7|Q5VVK1|Q8WXT6	Missense_Mutation	SNP	ENST00000382500.2	37	c.44G>A	CCDS34975.1	.	.	.	.	.	.	.	.	.	.	.	10.35	1.325924	0.24080	.	.	ENSG00000170122	ENST00000382500	D	0.95482	-3.72	2.14	-0.292	0.12839	.	0.798396	0.10231	U	0.699580	D	0.88276	0.6393	N	0.24115	0.695	0.09310	N	1	B	0.22211	0.066	B	0.09377	0.004	T	0.77222	-0.2667	10	0.31617	T	0.26	.	4.7217	0.12922	0.0:0.5047:0.3285:0.1669	.	15	Q12950	FOXD4_HUMAN	H	15	ENSP00000371940:R15H	ENSP00000371940:R15H	R	-	2	0	FOXD4	108076	0.000000	0.05858	0.009000	0.14445	0.059000	0.15707	-0.100000	0.10990	0.114000	0.18032	0.291000	0.19559	CGC		0.642	FOXD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055433.1	NM_207305		32	46	0	0	0	1	0	32	46					T	118076	C	T	118076	3	4	435	1	0	0	0	0	1	0	0	0	5999	768	27	1	1279	1	FOXD4	9	118076	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08		118076	141095355	4203	25128											
DOCK8	81704	broad.mit.edu	37	chr9	420486	420486	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatcatgaaaaatgctgatcAgagcctcattaggaagtgga	15	9	11	6	0	3	3	3	2	0	1	3	6	3	5	1	2	2	1	1	2	4	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:420486A>G	ENST00000453981.1	+	31	4038	c.3926A>G	c.(3925-3927)cAg>cGg	p.Q1309R	DOCK8_ENST00000432829.2_Missense_Mutation_p.Q1241R|DOCK8_ENST00000469391.1_Missense_Mutation_p.Q1209R|DOCK8_ENST00000493666.2_3'UTR|DOCK8_ENST00000382329.1_Missense_Mutation_p.Q776R			Q8NF50	DOCK8_HUMAN	dedicator of cytokinesis 8	1309					blood coagulation (GO:0007596)|dendritic cell migration (GO:0036336)|immunological synapse formation (GO:0001771)|memory T cell proliferation (GO:0061485)|negative regulation of T cell apoptotic process (GO:0070233)|small GTPase mediated signal transduction (GO:0007264)	cell leading edge (GO:0031252)|cytosol (GO:0005829)|membrane (GO:0016020)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)		AATGCTGATCAGAGCCTCATT	0.448																																						ENST00000432829.2																			0				breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65						c.(3721-3723)cAg>cGg		dedicator of cytokinesis 8							182	153	163					9																	420486		2203	4300	6503	SO:0001583	missense	81704				blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	g.chr9:420486A>G	AK090429	CCDS6440.1, CCDS6440.2, CCDS55283.1, CCDS55284.1	9p24.3	2014-09-17			ENSG00000107099	ENSG00000107099			19191	protein-coding gene	gene with protein product		611432				11214971	Standard	NM_203447		Approved	FLJ00026, FLJ00152, ZIR8, FLJ00346	uc003zgf.2	Q8NF50	OTTHUMG00000078789	ENST00000453981.1:c.3926A>G	9.37:g.420486A>G	ENSP00000408464:p.Gln1309Arg					DOCK8_ENST00000493666.2_3'UTR|DOCK8_ENST00000453981.1_Missense_Mutation_p.Q1309R|DOCK8_ENST00000469391.1_Missense_Mutation_p.Q1209R|DOCK8_ENST00000382329.1_Missense_Mutation_p.Q776R	p.Q1241R	NM_203447.3	NP_982272.2	Q8NF50	DOCK8_HUMAN		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)	31	4038	+		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)	1309					A2A350|A2BDF2|A4FU78|B7ZLP0|E9PH09|Q3MV16|Q5JPJ1|Q8TEP1|Q8WUY2|Q9BYJ5|Q9H1Q2|Q9H1Q3|Q9H308|Q9H7P2	Missense_Mutation	SNP	ENST00000453981.1	37	c.3722A>G	CCDS6440.2	.	.	.	.	.	.	.	.	.	.	A	7.223	0.597864	0.13875	.	.	ENSG00000107099	ENST00000453981;ENST00000287364;ENST00000432829;ENST00000469391;ENST00000382329	T;T;T;T	0.21734	1.99;1.99;1.99;1.99	5.67	5.67	0.87782	.	0.111098	0.64402	D	0.000005	T	0.12092	0.0294	N	0.11927	0.2	0.53688	D	0.999971	B;B;B	0.06786	0.0;0.0;0.001	B;B;B	0.06405	0.002;0.001;0.002	T	0.09997	-1.0649	10	0.07644	T	0.81	.	15.9132	0.79488	1.0:0.0:0.0:0.0	.	1209;776;1309	E9PH09;A2A369;Q8NF50	.;.;DOCK8_HUMAN	R	1309;1277;1241;1209;776	ENSP00000408464:Q1309R;ENSP00000394888:Q1241R;ENSP00000419438:Q1209R;ENSP00000371766:Q776R	ENSP00000287364:Q1277R	Q	+	2	0	DOCK8	410486	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	7.143000	0.77348	2.148000	0.66965	0.533000	0.62120	CAG		0.448	DOCK8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171792.5	XM_036307		39	45	0	0	0	1	0	39	45					G	420486	A	G	420486	3	3	435	1	0	0	0	0	1	0	0	0	4693	188	7	4	4048	4	DOCK8	9	420486	Missense_Mutation	SNP	A	TCGA-XK-AAIW-01A-11D-A41K-08	302410	420486	140792945	4204	25129											
SMARCA2	6595	broad.mit.edu	37	chr9	2060865	2060865	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gattgatcaaaagaaagacaGgcgtttagcttaccttttgc	13	12	9	7	1	1	3	1	1	0	2	1	4	1	3	1	1	3	2	1	1	5	6			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:2060865G>T	ENST00000382203.1	+	9	1780	c.1571G>T	c.(1570-1572)aGg>aTg	p.R524M	SMARCA2_ENST00000382194.1_Missense_Mutation_p.R524M|SMARCA2_ENST00000349721.2_Missense_Mutation_p.R524M|SMARCA2_ENST00000357248.2_Missense_Mutation_p.R524M			P51531	SMCA2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2	524					aortic smooth muscle cell differentiation (GO:0035887)|ATP catabolic process (GO:0006200)|chromatin remodeling (GO:0006338)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)	intermediate filament cytoskeleton (GO:0045111)|intracellular membrane-bounded organelle (GO:0043231)|nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	ATP binding (GO:0005524)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|RNA polymerase II transcription coactivator activity (GO:0001105)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)		GBM - Glioblastoma multiforme(50;0.0475)		AAGAAAGACAGGCGTTTAGCT	0.443																																						ENST00000382203.1																			0				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	56						c.(1570-1572)aGg>aTg		SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2							106	101	102					9																	2060865		2203	4300	6503	SO:0001583	missense	6595				chromatin remodeling|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development	intermediate filament cytoskeleton|nBAF complex|npBAF complex|nuclear chromatin|nucleoplasm|SWI/SNF complex|WINAC complex	ATP binding|DNA-dependent ATPase activity|helicase activity|protein binding|RNA polymerase II transcription coactivator activity|transcription regulatory region DNA binding	g.chr9:2060865G>T	D26155	CCDS34977.1, CCDS34978.1, CCDS75807.1, CCDS75808.1	9p24.3	2008-11-11	2006-11-09		ENSG00000080503	ENSG00000080503			11098	protein-coding gene	gene with protein product		600014		SNF2L2		8012116	Standard	NM_003070		Approved	BAF190, hSNF2a, hBRM, Sth1p, SNF2LA, BRM, SNF2, SWI2	uc003zhc.3	P51531	OTTHUMG00000019445	ENST00000382203.1:c.1571G>T	9.37:g.2060865G>T	ENSP00000371638:p.Arg524Met					SMARCA2_ENST00000349721.2_Missense_Mutation_p.R524M|SMARCA2_ENST00000382194.1_Missense_Mutation_p.R524M|SMARCA2_ENST00000357248.2_Missense_Mutation_p.R524M	p.R524M			P51531	SMCA2_HUMAN		GBM - Glioblastoma multiforme(50;0.0475)	9	1780	+		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)	524					B1ALG3|B1ALG4|D3DRH4|D3DRH5	Missense_Mutation	SNP	ENST00000382203.1	37	c.1571G>T	CCDS34977.1	.	.	.	.	.	.	.	.	.	.	G	24.0	4.486517	0.84854	.	.	ENSG00000080503	ENST00000349721;ENST00000357248;ENST00000450198;ENST00000382203;ENST00000382194	T;T;T;T;T	0.41758	0.99;0.99;0.99;0.99;0.99	5.17	5.17	0.71159	.	0.055269	0.64402	D	0.000001	T	0.46870	0.1415	L	0.43152	1.355	0.80722	D	1	P;P;P	0.50528	0.897;0.936;0.894	P;P;B	0.48141	0.492;0.568;0.365	T	0.46952	-0.9154	10	0.59425	D	0.04	-30.7646	18.8772	0.92343	0.0:0.0:1.0:0.0	.	125;524;524	B4DK35;P51531-2;P51531	.;.;SMCA2_HUMAN	M	524	ENSP00000265773:R524M;ENSP00000349788:R524M;ENSP00000392081:R524M;ENSP00000371638:R524M;ENSP00000371629:R524M	ENSP00000265773:R524M	R	+	2	0	SMARCA2	2050865	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.114000	0.77103	2.673000	0.90976	0.655000	0.94253	AGG		0.443	SMARCA2-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000051505.1	NM_003070		16	32	1	0	3.32936e-07	1	3.48341e-07	16	32					T	2060865	G	T	2060865	3	4	435	1	0	0	0	0	1	0	0	0	14769	1000	35	5	1601	5	SMARCA2	9	2060865	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	1640379	2060865	139152566	4205	25130											
VLDLR	7436	broad.mit.edu	37	chr9	2639945	2639945	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtgtgatggagatcctgacTgcgaagatggttcagatgaa	12	10	14	5	1	1	6	1	3	0	3	2	8	2	6	1	2	1	1	1	2	2	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:2639945T>C	ENST00000382100.3	+	3	645	c.289T>C	c.(289-291)Tgc>Cgc	p.C97R	VLDLR_ENST00000382099.2_Missense_Mutation_p.C97R|RP11-125B21.2_ENST00000599229.1_RNA	NM_003383.3	NP_003374.3	P98155	VLDLR_HUMAN	very low density lipoprotein receptor	97	LDL-receptor class A 2. {ECO:0000255|PROSITE-ProRule:PRU00124}.				cholesterol metabolic process (GO:0008203)|glycoprotein transport (GO:0034436)|lipid transport (GO:0006869)|memory (GO:0007613)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|positive regulation of dendrite development (GO:1900006)|positive regulation of protein kinase activity (GO:0045860)|receptor-mediated endocytosis (GO:0006898)|reelin-mediated signaling pathway (GO:0038026)|signal transduction (GO:0007165)|ventral spinal cord development (GO:0021517)|very-low-density lipoprotein particle clearance (GO:0034447)	coated pit (GO:0005905)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|very-low-density lipoprotein particle (GO:0034361)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|calcium-dependent protein binding (GO:0048306)|glycoprotein binding (GO:0001948)|glycoprotein transporter activity (GO:0034437)|low-density lipoprotein receptor activity (GO:0005041)|reelin receptor activity (GO:0038025)|very-low-density lipoprotein particle binding (GO:0034189)|very-low-density lipoprotein particle receptor activity (GO:0030229)			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	24				GBM - Glioblastoma multiforme(50;0.0668)|Lung(218;0.123)		AGATCCTGACTGCGAAGATGG	0.458																																						ENST00000382100.2																			0				breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	24						c.(289-291)Tgc>Cgc		very low density lipoprotein receptor							271	239	250					9																	2639945		2203	4300	6503	SO:0001583	missense	7436				cholesterol metabolic process|endocytosis|lipid transport|memory|very-low-density lipoprotein particle clearance	coated pit|integral to membrane|membrane fraction|plasma membrane|very-low-density lipoprotein particle	apolipoprotein binding|calcium ion binding|low-density lipoprotein receptor activity|very-low-density lipoprotein particle receptor activity	g.chr9:2639945T>C		CCDS6446.1, CCDS34979.1	9p24	2014-01-24			ENSG00000147852	ENSG00000147852		"Low density lipoprotein receptors"	12698	protein-coding gene	gene with protein product		192977				8294473	Standard	XM_006716864		Approved	CARMQ1, CHRMQ1, VLDLRCH	uc003zhk.1	P98155	OTTHUMG00000019447	ENST00000382100.3:c.289T>C	9.37:g.2639945T>C	ENSP00000371532:p.Cys97Arg					RP11-125B21.2_ENST00000599229.1_RNA|VLDLR_ENST00000382099.2_Missense_Mutation_p.C97R	p.C97R	NM_003383.3	NP_003374.3	P98155	VLDLR_HUMAN		GBM - Glioblastoma multiforme(50;0.0668)|Lung(218;0.123)	3	645	+			97			LDL-receptor class A 2.		B2RMZ7|D3DRH6|Q5VVF6	Missense_Mutation	SNP	ENST00000382100.3	37	c.289T>C	CCDS6446.1	.	.	.	.	.	.	.	.	.	.	T	26.1	4.703422	0.88924	.	.	ENSG00000147852	ENST00000382100;ENST00000382096;ENST00000382099	D;D;D	0.99939	-8.35;-8.0;-8.35	5.92	5.92	0.95590	Low-density lipoprotein (LDL) receptor class A, conserved site (1);	0.000000	0.64402	D	0.000019	D	0.99961	0.9984	H	0.99090	4.425	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;1.0	D	0.96242	0.9176	10	0.87932	D	0	.	16.3648	0.83312	0.0:0.0:0.0:1.0	.	97;97;97	P98155-2;Q5VVF5;P98155	.;.;VLDLR_HUMAN	R	97	ENSP00000371532:C97R;ENSP00000371528:C97R;ENSP00000371531:C97R	ENSP00000371528:C97R	C	+	1	0	VLDLR	2629945	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	8.040000	0.89188	2.263000	0.75096	0.533000	0.62120	TGC		0.458	VLDLR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051519.2	NM_003383		48	65	0	0	0	1	0	48	65					C	2639945	T	C	2639945	3	2	435	1	0	0	0	0	1	0	0	0	17171	1580	55	4	299	4	VLDLR	9	2639945	Missense_Mutation	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	579080	2639945	138573486	4206	25131											
KCNV2	169522	broad.mit.edu	37	chr9	2718278	2718278	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgacgggctgtgtccgcgccGcttcctggaggagctgggct	3	8	17	13	5	0	0	0	0	0	0	2	3	2	2	3	4	1	4	3	4	0	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:2718278G>A	ENST00000382082.3	+	1	777	c.539G>A	c.(538-540)cGc>cAc	p.R180H		NM_133497.3	NP_598004.1	Q8TDN2	KCNV2_HUMAN	potassium channel, subfamily V, member 2	180					protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(2)	35				GBM - Glioblastoma multiforme(50;0.0257)		TGTCCGCGCCGCTTCCTGGAG	0.657																																						ENST00000382082.3																			0				NS(1)|breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(2)	35						c.(538-540)cGc>cAc		potassium channel, subfamily V, member 2							19	17	18					9																	2718278		2200	4290	6490	SO:0001583	missense	169522					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr9:2718278G>A	AF348983	CCDS6447.1	9p24.2	2011-07-05			ENSG00000168263	ENSG00000168263		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	19698	protein-coding gene	gene with protein product		607604				12060745, 16382104	Standard	NM_133497		Approved	Kv8.2	uc003zho.2	Q8TDN2	OTTHUMG00000019449	ENST00000382082.3:c.539G>A	9.37:g.2718278G>A	ENSP00000371514:p.Arg180His						p.R180H	NM_133497.3	NP_598004.1	Q8TDN2	KCNV2_HUMAN		GBM - Glioblastoma multiforme(50;0.0257)	1	777	+			180					Q5T6X0	Missense_Mutation	SNP	ENST00000382082.3	37	c.539G>A	CCDS6447.1	.	.	.	.	.	.	.	.	.	.	G	9.823	1.186401	0.21870	.	.	ENSG00000168263	ENST00000423608;ENST00000382082	T	0.76839	-1.05	4.91	3.08	0.35506	BTB/POZ fold (2);Potassium channel, voltage dependent, Kv, tetramerisation (1);	0.226336	0.52532	D	0.000077	T	0.61035	0.2315	N	0.14661	0.345	0.20074	N	0.999932	B	0.19583	0.037	B	0.15484	0.013	T	0.53669	-0.8406	10	0.52906	T	0.07	.	11.2399	0.48964	0.1354:0.0:0.8646:0.0	.	180	Q8TDN2	KCNV2_HUMAN	H	180	ENSP00000371514:R180H	ENSP00000371514:R180H	R	+	2	0	KCNV2	2708278	0.766000	0.28496	0.611000	0.29010	0.130000	0.20726	1.279000	0.33191	0.492000	0.27815	0.407000	0.27541	CGC		0.657	KCNV2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051528.1	NM_133497		3	4	0	0	0	1	0	3	4					A	2718278	G	A	2718278	3	1	435	1	0	0	0	0	1	0	0	0	8095	1087	38	1	541	1	KCNV2	9	2718278	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	78333	2718278	138495153	4207	25132											
KCNV2	169522	broad.mit.edu	37	chr9	2718473	2718473	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctacggcccgcagcggcgccGcctctggaacctcatggaga	7	5	13	16	5	2	1	1	0	1	1	2	3	2	2	4	4	3	1	4	4	2	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:2718473G>A	ENST00000382082.3	+	1	972	c.734G>A	c.(733-735)cGc>cAc	p.R245H		NM_133497.3	NP_598004.1	Q8TDN2	KCNV2_HUMAN	potassium channel, subfamily V, member 2	245					protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(2)	35				GBM - Glioblastoma multiforme(50;0.0257)		CAGCGGCGCCGCCTCTGGAAC	0.687																																						ENST00000382082.3																			0				NS(1)|breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(2)	35						c.(733-735)cGc>cAc		potassium channel, subfamily V, member 2							13	12	12					9																	2718473		2120	4168	6288	SO:0001583	missense	169522					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr9:2718473G>A	AF348983	CCDS6447.1	9p24.2	2011-07-05			ENSG00000168263	ENSG00000168263		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	19698	protein-coding gene	gene with protein product		607604				12060745, 16382104	Standard	NM_133497		Approved	Kv8.2	uc003zho.2	Q8TDN2	OTTHUMG00000019449	ENST00000382082.3:c.734G>A	9.37:g.2718473G>A	ENSP00000371514:p.Arg245His						p.R245H	NM_133497.3	NP_598004.1	Q8TDN2	KCNV2_HUMAN		GBM - Glioblastoma multiforme(50;0.0257)	1	972	+			245					Q5T6X0	Missense_Mutation	SNP	ENST00000382082.3	37	c.734G>A	CCDS6447.1	.	.	.	.	.	.	.	.	.	.	G	17.33	3.363259	0.61513	.	.	ENSG00000168263	ENST00000382082	D	0.97256	-4.31	4.84	4.84	0.62591	.	0.229208	0.46145	D	0.000304	D	0.95459	0.8525	M	0.62154	1.92	0.39361	D	0.965914	P	0.47910	0.902	B	0.37346	0.247	D	0.96442	0.9327	10	0.59425	D	0.04	.	17.9536	0.89061	0.0:0.0:1.0:0.0	.	245	Q8TDN2	KCNV2_HUMAN	H	245	ENSP00000371514:R245H	ENSP00000371514:R245H	R	+	2	0	KCNV2	2708473	1.000000	0.71417	0.968000	0.41197	0.836000	0.47400	3.010000	0.49559	2.220000	0.72140	0.563000	0.77884	CGC		0.687	KCNV2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051528.1	NM_133497		3	3	0	0	0	1	0	3	3					A	2718473	G	A	2718473	3	1	435	1	0	0	0	0	1	0	0	0	8095	1087	38	1	736	1	KCNV2	9	2718473	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	195	2718473	138494958	4208	25133											
RFX3	5991	broad.mit.edu	37	chr9	3248153	3248153	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggagccaaagctagcagcaCtgcgtaaggttaagtcccga	13	6	12	10	2	0	0	0	0	0	0	1	2	1	1	2	2	5	5	2	2	4	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:3248153C>T	ENST00000382004.3	-	16	2158	c.1847G>A	c.(1846-1848)aGt>aAt	p.S616N	RFX3_ENST00000302303.1_Missense_Mutation_p.S616N|RFX3_ENST00000358730.2_Missense_Mutation_p.S616N	NM_001282116.1|NM_134428.1	NP_001269045.1|NP_602304.1	P48380	RFX3_HUMAN	regulatory factor X, 3 (influences HLA class II expression)	616					cell maturation (GO:0048469)|cilium assembly (GO:0042384)|cilium-dependent cell motility (GO:0060285)|endocrine pancreas development (GO:0031018)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type B pancreatic cell development (GO:2000078)|regulation of insulin secretion (GO:0050796)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)|type B pancreatic cell maturation (GO:0072560)	nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(11)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	40				GBM - Glioblastoma multiforme(50;0.00124)|Lung(2;0.0337)		GCTAGCAGCACTGCGTAAGGT	0.413																																						ENST00000382004.3																			0				central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(11)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	40						c.(1846-1848)aGt>aAt		regulatory factor X, 3 (influences HLA class II expression)							61	56	58					9																	3248153		2203	4300	6503	SO:0001583	missense	5991				cell maturation|ciliary cell motility|cilium assembly|cilium movement involved in determination of left/right asymmetry|endocrine pancreas development|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type B pancreatic cell development|regulation of insulin secretion	nuclear chromatin	protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding	g.chr9:3248153C>T	AI811824	CCDS6449.1, CCDS6450.1, CCDS75809.1	9p24.2	2008-02-05			ENSG00000080298	ENSG00000080298			9984	protein-coding gene	gene with protein product		601337				8289803	Standard	XM_005251534		Approved		uc003zhr.3	P48380	OTTHUMG00000019456	ENST00000382004.3:c.1847G>A	9.37:g.3248153C>T	ENSP00000371434:p.Ser616Asn					RFX3_ENST00000358730.2_Missense_Mutation_p.S616N|RFX3_ENST00000302303.1_Missense_Mutation_p.S616N	p.S616N	NM_134428.1	NP_602304.1	P48380	RFX3_HUMAN		GBM - Glioblastoma multiforme(50;0.00124)|Lung(2;0.0337)	16	2158	-			616					A8K0H5|D3DRH8|D3DRH9|Q5JTL7|Q5JTL8|Q6NW13|Q8WTU4|Q95HL5|Q95HL6	Missense_Mutation	SNP	ENST00000382004.3	37	c.1847G>A	CCDS6449.1	.	.	.	.	.	.	.	.	.	.	C	34	5.377111	0.95945	.	.	ENSG00000080298	ENST00000382004;ENST00000358730;ENST00000302303;ENST00000449234;ENST00000381986	T;T;T;T	0.49720	0.77;0.77;0.77;0.77	5.77	5.77	0.91146	.	0.040748	0.85682	D	0.000000	T	0.67344	0.2883	M	0.66378	2.025	0.80722	D	1	D;P	0.54964	0.969;0.942	D;P	0.66351	0.943;0.764	T	0.61831	-0.6982	10	0.33940	T	0.23	-14.4686	19.9926	0.97371	0.0:1.0:0.0:0.0	.	616;616	P48380-2;P48380	.;RFX3_HUMAN	N	616;616;616;81;95	ENSP00000371434:S616N;ENSP00000351574:S616N;ENSP00000303847:S616N;ENSP00000415594:S81N	ENSP00000303847:S616N	S	-	2	0	RFX3	3238153	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.757000	0.85209	2.729000	0.93468	0.467000	0.42956	AGT		0.413	RFX3-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051545.1	NM_002919		17	24	0	0	0	1	0	17	24					T	3248153	C	T	3248153	3	4	435	1	0	0	0	0	1	0	0	0	13264	565	20	3	570	3	RFX3	9	3248153	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	529680	3248153	137965278	4209	25134											
RFX3	5991	broad.mit.edu	37	chr9	3263044	3263044	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccaggtgattaagcgacgtgTatcttcgcagagtctgggca	9	10	13	9	3	2	2	0	1	2	1	3	3	2	2	1	2	1	3	1	2	2	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:3263044T>C	ENST00000382004.3	-	14	1807	c.1496A>G	c.(1495-1497)tAc>tGc	p.Y499C	RFX3_ENST00000302303.1_Missense_Mutation_p.Y499C|RFX3_ENST00000358730.2_Missense_Mutation_p.Y499C	NM_001282116.1|NM_134428.1	NP_001269045.1|NP_602304.1	P48380	RFX3_HUMAN	regulatory factor X, 3 (influences HLA class II expression)	499					cell maturation (GO:0048469)|cilium assembly (GO:0042384)|cilium-dependent cell motility (GO:0060285)|endocrine pancreas development (GO:0031018)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type B pancreatic cell development (GO:2000078)|regulation of insulin secretion (GO:0050796)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)|type B pancreatic cell maturation (GO:0072560)	nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(11)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	40				GBM - Glioblastoma multiforme(50;0.00124)|Lung(2;0.0337)		AAGCGACGTGTATCTTCGCAG	0.498																																						ENST00000382004.3																			0				central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(11)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	40						c.(1495-1497)tAc>tGc		regulatory factor X, 3 (influences HLA class II expression)							167	141	150					9																	3263044		2203	4300	6503	SO:0001583	missense	5991				cell maturation|ciliary cell motility|cilium assembly|cilium movement involved in determination of left/right asymmetry|endocrine pancreas development|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type B pancreatic cell development|regulation of insulin secretion	nuclear chromatin	protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding	g.chr9:3263044T>C	AI811824	CCDS6449.1, CCDS6450.1, CCDS75809.1	9p24.2	2008-02-05			ENSG00000080298	ENSG00000080298			9984	protein-coding gene	gene with protein product		601337				8289803	Standard	XM_005251534		Approved		uc003zhr.3	P48380	OTTHUMG00000019456	ENST00000382004.3:c.1496A>G	9.37:g.3263044T>C	ENSP00000371434:p.Tyr499Cys					RFX3_ENST00000358730.2_Missense_Mutation_p.Y499C|RFX3_ENST00000302303.1_Missense_Mutation_p.Y499C	p.Y499C	NM_134428.1	NP_602304.1	P48380	RFX3_HUMAN		GBM - Glioblastoma multiforme(50;0.00124)|Lung(2;0.0337)	14	1807	-			499					A8K0H5|D3DRH8|D3DRH9|Q5JTL7|Q5JTL8|Q6NW13|Q8WTU4|Q95HL5|Q95HL6	Missense_Mutation	SNP	ENST00000382004.3	37	c.1496A>G	CCDS6449.1	.	.	.	.	.	.	.	.	.	.	T	25.6	4.652193	0.88056	.	.	ENSG00000080298	ENST00000382004;ENST00000358730;ENST00000302303;ENST00000458034	T;T;T;T	0.49720	0.77;0.77;0.77;0.77	6.16	6.16	0.99307	.	0.000000	0.85682	D	0.000000	T	0.74152	0.3679	M	0.89214	3.015	0.80722	D	1	P;D	0.71674	0.938;0.998	P;D	0.73708	0.772;0.981	T	0.78964	-0.1996	10	0.66056	D	0.02	-10.4584	16.8061	0.85666	0.0:0.0:0.0:1.0	.	499;499	P48380-2;P48380	.;RFX3_HUMAN	C	499;499;499;72	ENSP00000371434:Y499C;ENSP00000351574:Y499C;ENSP00000303847:Y499C;ENSP00000400026:Y72C	ENSP00000303847:Y499C	Y	-	2	0	RFX3	3253044	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.040000	0.89188	2.367000	0.80283	0.528000	0.53228	TAC		0.498	RFX3-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051545.1	NM_002919		17	29	0	0	0	1	0	17	29					C	3263044	T	C	3263044	3	2	435	1	0	0	0	0	1	0	0	0	13264	1638	57	4	929	4	RFX3	9	3263044	Missense_Mutation	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	14891	3263044	137950387	4210	25135											
JAK2	3717	broad.mit.edu	37	chr9	5069188	5069188	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aattttccagtttactaaatGctgtcccccaaagccaaaag	14	11	5	11	0	0	0	0	0	0	0	2	0	2	0	4	0	3	2	4	0	7	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:5069188G>A	ENST00000381652.3	+	11	1987	c.1493G>A	c.(1492-1494)tGc>tAc	p.C498Y	JAK2_ENST00000539801.1_Missense_Mutation_p.C498Y|JAK2_ENST00000544510.1_Missense_Mutation_p.C349Y	NM_004972.3	NP_004963.1	O60674	JAK2_HUMAN	Janus kinase 2	498					actin filament polymerization (GO:0030041)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:0097296)|activation of JAK2 kinase activity (GO:0042977)|activation of MAPKK activity (GO:0000186)|apoptotic process (GO:0006915)|axon regeneration (GO:0031103)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|cellular component movement (GO:0006928)|cytokine-mediated signaling pathway (GO:0019221)|enzyme linked receptor protein signaling pathway (GO:0007167)|erythrocyte differentiation (GO:0030218)|extrinsic apoptotic signaling pathway (GO:0097191)|G-protein coupled receptor signaling pathway (GO:0007186)|growth hormone receptor signaling pathway (GO:0060396)|histone H3-Y41 phosphorylation (GO:0035409)|hormone-mediated signaling pathway (GO:0009755)|host programmed cell death induced by symbiont (GO:0034050)|interferon-gamma-mediated signaling pathway (GO:0060333)|interleukin-12-mediated signaling pathway (GO:0035722)|intracellular signal transduction (GO:0035556)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|mammary gland epithelium development (GO:0061180)|mesoderm development (GO:0007498)|mineralocorticoid receptor signaling pathway (GO:0031959)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of DNA binding (GO:0043392)|negative regulation of heart contraction (GO:0045822)|negative regulation of neuron apoptotic process (GO:0043524)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell activation (GO:0050867)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of DNA binding (GO:0043388)|positive regulation of growth hormone receptor signaling pathway (GO:0060399)|positive regulation of inflammatory response (GO:0050729)|positive regulation of insulin secretion (GO:0032024)|positive regulation of interleukin-1 beta production (GO:0032731)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of protein import into nucleus, translocation (GO:0033160)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of inflammatory response (GO:0050727)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|response to antibiotic (GO:0046677)|response to hydroperoxide (GO:0033194)|response to interleukin-12 (GO:0070671)|response to lipopolysaccharide (GO:0032496)|response to tumor necrosis factor (GO:0034612)|signal transduction (GO:0007165)|STAT protein import into nucleus (GO:0007262)|tumor necrosis factor-mediated signaling pathway (GO:0033209)|tyrosine phosphorylation of STAT protein (GO:0007260)|tyrosine phosphorylation of Stat1 protein (GO:0042508)|tyrosine phosphorylation of Stat3 protein (GO:0042503)|tyrosine phosphorylation of Stat5 protein (GO:0042506)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|endosome lumen (GO:0031904)|membrane raft (GO:0045121)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	ATP binding (GO:0005524)|growth hormone receptor binding (GO:0005131)|heme binding (GO:0020037)|histone binding (GO:0042393)|histone kinase activity (H3-Y41 specific) (GO:0035401)|interleukin-12 receptor binding (GO:0005143)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein tyrosine kinase activity (GO:0004713)|receptor binding (GO:0005102)|SH2 domain binding (GO:0042169)		BCR/JAK2(6)|SSBP2/JAK2(4)|SEC31A/JAK2(4)|ETV6/JAK2(11)|PCM1/JAK2(30)|PAX5/JAK2(18)	breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(32944)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(4)|skin(2)|urinary_tract(1)	32998	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.0198)|Breast(48;0.147)		GBM - Glioblastoma multiforme(50;0.0237)|Lung(218;0.133)	Ruxolitinib(DB08877)|Tofacitinib(DB08895)	TTTACTAAATGCTGTCCCCCA	0.343		1	"T, Mis, O"	"ETV6, PCM1, BCR"	"ALL, AML, MPD,  CML"				Polycythemia Vera, Familial																													ENST00000381652.3		1		Dom	yes		9	9p24	3717	"T, Mis, O"	Janus kinase 2			L	"ETV6, PCM1, BCR"		"ALL, AML, MPD,  CML"	BCR/JAK2(6)|SSBP2/JAK2(4)|SEC31A/JAK2(4)|ETV6/JAK2(11)|PCM1/JAK2(30)|PAX5/JAK2(18)	0				breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(32944)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(4)|skin(2)|urinary_tract(1)	32998						c.(1492-1494)tGc>tAc		Janus kinase 2							58	59	59					9																	5069188		2203	4299	6502	SO:0001583	missense	3717	Polycythemia Vera, Familial	Familial Cancer Database		actin filament polymerization|activation of caspase activity by protein phosphorylation|activation of JAK2 kinase activity|blood coagulation|cellular component movement|erythrocyte differentiation|interferon-gamma-mediated signaling pathway|interleukin-12-mediated signaling pathway|JAK-STAT cascade involved in growth hormone signaling pathway|mammary gland epithelium development|mesoderm development|negative regulation of cell proliferation|negative regulation of DNA binding|positive regulation of apoptosis|positive regulation of cell-substrate adhesion|positive regulation of growth hormone receptor signaling pathway|positive regulation of nitric-oxide synthase 2 biosynthetic process|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of tumor necrosis factor production|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|protein autophosphorylation|regulation of inflammatory response|regulation of interferon-gamma-mediated signaling pathway|response to antibiotic|response to lipopolysaccharide|STAT protein import into nucleus|tumor necrosis factor-mediated signaling pathway|tyrosine phosphorylation of STAT protein	caveola|cytoskeleton|cytosol|endomembrane system|nucleus	ATP binding|growth hormone receptor binding|heme binding|histone binding|histone kinase activity (H3-Y41 specific)|interleukin-12 receptor binding|non-membrane spanning protein tyrosine kinase activity|protein kinase binding|SH2 domain binding	g.chr9:5069188G>A		CCDS6457.1	9p24	2014-09-17	2009-04-23		ENSG00000096968	ENSG00000096968	2.7.10.1	"SH2 domain containing"	6192	protein-coding gene	gene with protein product		147796				1848670	Standard	NM_004972		Approved	JTK10	uc003ziw.3	O60674	OTTHUMG00000019490	ENST00000381652.3:c.1493G>A	9.37:g.5069188G>A	ENSP00000371067:p.Cys498Tyr					JAK2_ENST00000539801.1_Missense_Mutation_p.C498Y|JAK2_ENST00000544510.1_Missense_Mutation_p.C349Y	p.C498Y	NM_004972.3	NP_004963.1	O60674	JAK2_HUMAN		GBM - Glioblastoma multiforme(50;0.0237)|Lung(218;0.133)	11	1987	+	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.0198)|Breast(48;0.147)	498					O14636|O75297	Missense_Mutation	SNP	ENST00000381652.3	37	c.1493G>A	CCDS6457.1	.	.	.	.	.	.	.	.	.	.	G	16.69	3.193948	0.58017	.	.	ENSG00000096968	ENST00000539801;ENST00000381652;ENST00000544510	T;T;T	0.25250	1.81;1.81;1.81	4.81	4.81	0.61882	SH2 motif (1);	0.000000	0.85682	D	0.000000	T	0.48447	0.1500	M	0.81497	2.545	0.80722	D	1	D	0.63880	0.993	P	0.55161	0.77	T	0.58289	-0.7662	10	0.87932	D	0	-7.6567	17.8943	0.88881	0.0:0.0:1.0:0.0	.	498	O60674	JAK2_HUMAN	Y	498;498;349	ENSP00000440387:C498Y;ENSP00000371067:C498Y;ENSP00000443103:C349Y	ENSP00000371067:C498Y	C	+	2	0	JAK2	5059188	1.000000	0.71417	1.000000	0.80357	0.296000	0.27459	9.427000	0.97472	2.198000	0.70561	0.591000	0.81541	TGC		0.343	JAK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051609.1			13	34	0	0	0	1	0	13	34					A	5069188	G	A	5069188	3	1	435	1	0	0	0	0	1	0	0	0	7938	1319	46	3	1527	3	JAK2	9	5069188	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	1806144	5069188	136144243	4211	25136											
RLN2	6019	broad.mit.edu	37	chr9	5300248	5300248	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtctgcggcttcactttgTctattgcgaataagtttctt	6	18	8	9	2	4	0	1	0	3	0	4	1	4	0	0	1	2	2	0	1	3	7			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:5300248T>C	ENST00000381627.3	-	2	796	c.408A>G	c.(406-408)agA>agG	p.R136R	RLN2_ENST00000308420.3_3'UTR	NM_134441.2	NP_604390.1	P04090	REL2_HUMAN	relaxin 2	136					female pregnancy (GO:0007565)	extracellular region (GO:0005576)				endometrium(2)|kidney(1)|large_intestine(2)|lung(6)	11	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.0201)|Lung(218;0.0987)		CTTCACTTTGTCTATTGCGAA	0.383																																						ENST00000381627.3																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(6)	11						c.(406-408)agA>agG		relaxin 2							120	120	120					9																	5300248		2203	4300	6503	SO:0001819	synonymous_variant	6019				female pregnancy	extracellular region	hormone activity	g.chr9:5300248T>C		CCDS6460.1	9p24.1	2013-02-26	2004-11-15		ENSG00000107014	ENSG00000107014		"Endogenous ligands"	10027	protein-coding gene	gene with protein product	"relaxin H2", "prorelaxin H2", "relaxin, ovarian, of pregnancy"	179740	"relaxin 2 (H2)"			6548703, 6548702	Standard	NM_134441		Approved	H2, RLXH2, bA12D24.1.1, bA12D24.1.2	uc003zja.2	P04090	OTTHUMG00000019496	ENST00000381627.3:c.408A>G	9.37:g.5300248T>C						RLN2_ENST00000308420.3_3'UTR	p.R136R	NM_134441.2	NP_604390.1	P04090	REL2_HUMAN		GBM - Glioblastoma multiforme(50;0.0201)|Lung(218;0.0987)	2	796	-	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.158)	136					A0AVM0|Q99936|Q9UCX3|Q9UQJ2	Silent	SNP	ENST00000381627.3	37	c.408A>G	CCDS6460.1																																																																																				0.383	RLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051619.1	NM_134441		51	68	0	0	0	1	0	51	68					C	5300248	T	C	5300248	2	2	435	1	0	0	0	0	0	0	0	1	13392	1664	58	4		4	RLN2	9	5300248	Silent	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	231060	5300248	135913183	4212	25137											
C9orf46	55848	broad.mit.edu	37	chr9	5361129	5361129	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caagtcatactggtaggtgaGgataaagcttaatggaacaa	16	9	11	5	0	1	1	1	1	0	0	1	3	1	3	0	4	3	2	0	4	8	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:5361129G>T	ENST00000223864.2	-	5	492	c.271C>A	c.(271-273)Ctc>Atc	p.L91I	PLGRKT_ENST00000482696.1_5'Flank	NM_018465.3	NP_060935.2	Q9HBL7	PLRKT_HUMAN	plasminogen receptor, C-terminal lysine transmembrane protein	91					chemotaxis (GO:0006935)|inflammatory response (GO:0006954)|positive regulation of plasminogen activation (GO:0010756)	integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)											TGGTAGGTGAGGATAAAGCTT	0.348																																						ENST00000223864.2																			0											c.(271-273)Ctc>Atc		plasminogen receptor, C-terminal lysine transmembrane protein							116	114	114					9																	5361129		2203	4300	6503	SO:0001583	missense	55848					integral to membrane		g.chr9:5361129G>T	AF225420	CCDS6463.1	9p24.1	2012-04-12	2012-04-12	2012-04-12	ENSG00000107020	ENSG00000107020			23633	protein-coding gene	gene with protein product	"uncharacterized hematopoietic stem/progenitor cells protein MDS030", "plasminogen receptor with a C-terminal lysine"		"chromosome 9 open reading frame 46"	C9orf46		12477932	Standard	NM_018465		Approved	MDS030, FLJ14688, AD025, Plg-RKT	uc003zjc.3	Q9HBL7	OTTHUMG00000019501	ENST00000223864.2:c.271C>A	9.37:g.5361129G>T	ENSP00000223864:p.Leu91Ile						p.L91I	NM_018465.3	NP_060935.2	Q9HBL7	CI046_HUMAN			5	492	-			91					B2R6W0|Q9NZ44	Missense_Mutation	SNP	ENST00000223864.2	37	c.271C>A	CCDS6463.1	.	.	.	.	.	.	.	.	.	.	G	12.09	1.834003	0.32421	.	.	ENSG00000107020	ENST00000223864	.	.	.	5.62	-4.27	0.03744	.	0.560922	0.19618	N	0.109972	T	0.46502	0.1396	M	0.77103	2.36	0.09310	N	1	B	0.27910	0.193	B	0.34536	0.185	T	0.49437	-0.8940	9	0.51188	T	0.08	.	11.1362	0.48375	0.7059:0.1033:0.1908:0.0	.	91	Q9HBL7	CI046_HUMAN	I	91	.	ENSP00000223864:L91I	L	-	1	0	C9orf46	5351129	0.000000	0.05858	0.001000	0.08648	0.798000	0.45092	-0.518000	0.06267	-0.985000	0.03503	-0.781000	0.03364	CTC		0.348	PLGRKT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051626.1	NM_018465		10	42	1	0	1.58986e-06	1	1.65464e-06	10	42					T	5361129	G	T	5361129	3	4	435	1	0	0	0	0	1	0	0	0	2484	1000	35	5	180	5	C9orf46	9	5361129	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	60881	5361129	135852302	4213	25138											
KIAA1432	57589	broad.mit.edu	37	chr9	5769250	5769250	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttcaaaaatggaaaatacCgaactggtaatgtagacttc	16	11	7	7	1	1	1	1	0	0	1	2	3	1	2	1	2	2	2	1	2	8	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:5769250C>T	ENST00000414202.2	+	22	3609	c.3418C>T	c.(3418-3420)Cga>Tga	p.R1140*	KIAA1432_ENST00000418622.3_Nonsense_Mutation_p.R1061*|KIAA1432_ENST00000449720.2_Nonsense_Mutation_p.R1024*|KIAA1432_ENST00000251879.6_Nonsense_Mutation_p.R1140*|KIAA1432_ENST00000381532.2_Nonsense_Mutation_p.R1061*	NM_001206557.1|NM_020829.3	NP_001193486.1|NP_065880.2														breast(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(23)|prostate(1)|upper_aerodigestive_tract(1)	45		Acute lymphoblastic leukemia(23;0.154)		GBM - Glioblastoma multiforme(50;0.000525)|Lung(218;0.122)		TGGAAAATACCGAACTGGTAA	0.368																																						ENST00000414202.2																			0				breast(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(23)|prostate(1)|upper_aerodigestive_tract(1)	45						c.(3418-3420)Cga>Tga		KIAA1432							116	128	124					9																	5769250		2203	4300	6503	SO:0001587	stop_gained	57589					integral to membrane		g.chr9:5769250C>T																												ENST00000414202.2:c.3418C>T	9.37:g.5769250C>T	ENSP00000416696:p.Arg1140*					KIAA1432_ENST00000418622.3_Nonsense_Mutation_p.R1061*|KIAA1432_ENST00000251879.6_Nonsense_Mutation_p.R1140*|KIAA1432_ENST00000381532.2_Nonsense_Mutation_p.R1061*|KIAA1432_ENST00000449720.2_Nonsense_Mutation_p.R1024*	p.R1140*	NM_001206557.1|NM_020829.3	NP_001193486.1|NP_065880.2	Q4ADV7	RIC1_HUMAN		GBM - Glioblastoma multiforme(50;0.000525)|Lung(218;0.122)	22	3609	+		Acute lymphoblastic leukemia(23;0.154)	1140						Nonsense_Mutation	SNP	ENST00000414202.2	37	c.3418C>T	CCDS34982.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	39|39	7.772463|7.772463	0.98480|0.98480	.|.	.|.	ENSG00000107036|ENSG00000107036	ENST00000545641|ENST00000251879;ENST00000414202;ENST00000381532;ENST00000418622;ENST00000449720	.|.	.|.	.|.	5.82|5.82	4.9|4.9	0.64082|0.64082	.|.	.|0.059965	.|0.64402	.|D	.|0.000005	T|.	0.35595|.	0.0937|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.17776|.	-1.0358|.	4|.	.|0.02654	.|T	.|1	-8.1696|-8.1696	13.065|13.065	0.59028|0.59028	0.4404:0.5596:0.0:0.0|0.4404:0.5596:0.0:0.0	.|.	.|.	.|.	.|.	L|X	1031|1140;1140;1061;1061;1024	.|.	.|ENSP00000251879:R1140X	P|R	+|+	2|1	0|2	KIAA1432|KIAA1432	5759250|5759250	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.787000|0.787000	0.44495|0.44495	3.021000|3.021000	0.49651|0.49651	1.435000|1.435000	0.47434|0.47434	0.655000|0.655000	0.94253|0.94253	CCG|CGA		0.368	KIAA1432-002	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051636.3			59	82	0	0	0	1	0	59	82					T	5769250	C	T	5769250	4	4	435	1	0	0	0	0	0	1	0	0	8233	644	23	2	3263	2	KIAA1432	9	5769250	Nonsense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	408121	5769250	135444181	4214	25139											
KIAA2026	158358	broad.mit.edu	37	chr9	5988467	5988467	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gaccgacgccttgttgaggtAcatgcagttcccttctcatc	7	12	9	13	2	1	1	1	1	1	0	4	3	2	1	3	1	2	4	3	1	1	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:5988467A>G	ENST00000399933.3	-	2	671	c.672T>C	c.(670-672)tgT>tgC	p.C224C	KIAA2026_ENST00000381461.2_Silent_p.C224C	NM_001017969.2	NP_001017969.2	Q5HYC2	K2026_HUMAN	KIAA2026	224										breast(6)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(1)	46		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124)		TTGTTGAGGTACATGCAGTTC	0.433																																						ENST00000399933.3																			0				breast(6)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(1)	46						c.(670-672)tgT>tgC		KIAA2026							133	127	129					9																	5988467		1935	4131	6066	SO:0001819	synonymous_variant	158358							g.chr9:5988467A>G	AB095946		9p24.1	2014-01-10			ENSG00000183354	ENSG00000183354			23378	protein-coding gene	gene with protein product							Standard	NM_001017969		Approved	FLJ20375	uc003zjq.4	Q5HYC2	OTTHUMG00000019507	ENST00000399933.3:c.672T>C	9.37:g.5988467A>G						KIAA2026_ENST00000381461.2_Silent_p.C224C	p.C224C	NM_001017969.2	NP_001017969.2	Q5HYC2	K2026_HUMAN		GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124)	2	671	-		Acute lymphoblastic leukemia(23;0.158)	224					A8MTP2|B9EGW7|Q4VXA2|Q8IVE5	Silent	SNP	ENST00000399933.3	37	c.672T>C																																																																																					0.433	KIAA2026-002	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000051652.2	NM_001017969		6	58	0	0	0	1	0	6	58					G	5988467	A	G	5988467	2	3	435	1	0	0	0	0	0	0	0	1	8270	389	14	4		4	KIAA2026	9	5988467	Silent	SNP	A	TCGA-XK-AAIW-01A-11D-A41K-08	219217	5988467	135224964	4215	25140											
TPD52L3	89882	broad.mit.edu	37	chr9	6328941	6328941	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ttggaggcgtgaagaagtcgGccacattcagatcttttgaa	11	11	12	7	2	2	4	1	2	1	2	3	5	2	5	1	3	0	0	1	3	3	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:6328941G>A	ENST00000344545.5	+	1	593	c.346G>A	c.(346-348)Gcc>Acc	p.A116T	TPD52L3_ENST00000381428.1_Missense_Mutation_p.A116T|TPD52L3_ENST00000314556.3_Missense_Mutation_p.A116T	NM_033516.5	NP_277051	Q96J77	TPD55_HUMAN	tumor protein D52-like 3	116										large_intestine(1)|lung(9)|skin(1)	11		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.0198)|Lung(218;0.1)		GAAGAAGTCGGCCACATTCAG	0.517																																						ENST00000344545.5																			0				large_intestine(1)|lung(9)|skin(1)	11						c.(346-348)Gcc>Acc		tumor protein D52-like 3							73	72	72					9																	6328941		2203	4300	6503	SO:0001583	missense	89882						protein binding	g.chr9:6328941G>A	AY032877	CCDS34984.1, CCDS34985.1, CCDS34986.1	9p24.1	2008-02-05			ENSG00000170777	ENSG00000170777			23382	protein-coding gene	gene with protein product							Standard	NM_033516		Approved	NYD-SP25	uc003zjw.3	Q96J77	OTTHUMG00000019518	ENST00000344545.5:c.346G>A	9.37:g.6328941G>A	ENSP00000341677:p.Ala116Thr					TPD52L3_ENST00000381428.1_Missense_Mutation_p.A116T|TPD52L3_ENST00000314556.3_Missense_Mutation_p.A116T	p.A116T	NM_033516.5	NP_277051.3	Q96J77	TPD55_HUMAN		GBM - Glioblastoma multiforme(50;0.0198)|Lung(218;0.1)	1	593	+		Acute lymphoblastic leukemia(23;0.158)	116					Q5TCR3|Q5TCR4|Q5TCR5|Q8N4P5|Q8WWF7|Q96M09	Missense_Mutation	SNP	ENST00000344545.5	37	c.346G>A	CCDS34986.1	.	.	.	.	.	.	.	.	.	.	G	12.77	2.036487	0.35893	.	.	ENSG00000170777	ENST00000344545;ENST00000381428;ENST00000314556	T;T;T	0.22539	1.95;1.95;1.95	4.41	1.35	0.21983	.	0.446395	0.23418	N	0.048397	T	0.22742	0.0549	L	0.60455	1.87	0.09310	N	1	P;P;B	0.40553	0.721;0.553;0.317	P;P;B	0.46629	0.476;0.522;0.267	T	0.12967	-1.0527	10	0.66056	D	0.02	-14.5477	2.6454	0.04983	0.1048:0.1772:0.5198:0.1981	.	116;116;116	Q96J77-2;Q96J77;Q96J77-3	.;TPD55_HUMAN;.	T	116	ENSP00000341677:A116T;ENSP00000370836:A116T;ENSP00000318665:A116T	ENSP00000318665:A116T	A	+	1	0	TPD52L3	6318941	0.002000	0.14202	0.130000	0.21974	0.642000	0.38348	0.205000	0.17356	0.180000	0.19960	0.511000	0.50034	GCC		0.517	TPD52L3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051658.1	NM_033516		22	40	0	0	0	1	0	22	40					A	6328941	G	A	6328941	3	1	435	1	0	0	0	0	1	0	0	0	16397	1203	42	3	348	3	TPD52L3	9	6328941	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	340474	6328941	134884490	4216	25141											
GLDC	2731	broad.mit.edu	37	chr9	6553496	6553496	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgattgggcaaaaacggggCgagatgtttcttcctgtatt	10	13	12	6	2	1	2	0	1	1	1	2	3	2	2	1	3	1	3	1	3	3	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:6553496C>T	ENST00000321612.6	-	20	2479	c.2329G>A	c.(2329-2331)Gcc>Acc	p.A777T		NM_000170.2	NP_000161.2	P23378	GCSP_HUMAN	glycine dehydrogenase (decarboxylating)	777					glycine catabolic process (GO:0006546)	mitochondrion (GO:0005739)	electron carrier activity (GO:0009055)|glycine dehydrogenase (decarboxylating) activity (GO:0004375)|lyase activity (GO:0016829)|pyridoxal phosphate binding (GO:0030170)			cervix(1)|endometrium(2)|large_intestine(5)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		Acute lymphoblastic leukemia(23;0.161)		GBM - Glioblastoma multiforme(50;0.0421)|Lung(218;0.134)	Glycine(DB00145)	AAAAACGGGGCGAGATGTTTC	0.473																																						ENST00000321612.6																			0				cervix(1)|endometrium(2)|large_intestine(5)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						c.(2329-2331)Gcc>Acc		glycine dehydrogenase (decarboxylating)	Glycine(DB00145)|Pyridoxal Phosphate(DB00114)						95	90	92					9																	6553496		2203	4300	6503	SO:0001583	missense	2731				glycine catabolic process	mitochondrion	electron carrier activity|glycine dehydrogenase (decarboxylating) activity|lyase activity|pyridoxal phosphate binding	g.chr9:6553496C>T	D90239	CCDS34987.1	9p22	2014-09-17	2006-05-22		ENSG00000178445	ENSG00000178445	1.4.4.2		4313	protein-coding gene	gene with protein product	"glycine cleavage system protein P", "glycine decarboxylase"	238300	"glycine dehydrogenase (decarboxylating; glycine decarboxylase, glycine cleavage system protein P)"			1993704, 1996985	Standard	NM_000170		Approved	GCSP, NKH	uc003zkc.3	P23378	OTTHUMG00000019524	ENST00000321612.6:c.2329G>A	9.37:g.6553496C>T	ENSP00000370737:p.Ala777Thr						p.A777T	NM_000170.2	NP_000161.2	P23378	GCSP_HUMAN		GBM - Glioblastoma multiforme(50;0.0421)|Lung(218;0.134)	20	2479	-		Acute lymphoblastic leukemia(23;0.161)	777					Q2M2F8	Missense_Mutation	SNP	ENST00000321612.6	37	c.2329G>A	CCDS34987.1	.	.	.	.	.	.	.	.	.	.	C	12.72	2.023090	0.35701	.	.	ENSG00000178445	ENST00000321612	D	0.98264	-4.83	4.73	3.81	0.43845	Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.324703	0.33916	N	0.004429	D	0.97222	0.9092	M	0.78637	2.42	0.58432	D	0.999998	B	0.24823	0.112	B	0.23419	0.046	D	0.96167	0.9120	10	0.66056	D	0.02	-0.1346	13.5964	0.61994	0.0:0.9231:0.0:0.0769	.	777	P23378	GCSP_HUMAN	T	777	ENSP00000370737:A777T	ENSP00000370737:A777T	A	-	1	0	GLDC	6543496	0.936000	0.31750	0.369000	0.25952	0.186000	0.23388	3.830000	0.55768	1.091000	0.41335	0.655000	0.94253	GCC		0.473	GLDC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051674.2	NM_000170		5	107	0	0	0	1	0	5	107					T	6553496	C	T	6553496	3	4	435	1	0	0	0	0	1	0	0	0	6433	768	27	1	757	1	GLDC	9	6553496	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	224555	6553496	134659935	4217	25142											
PTPRD	5789	broad.mit.edu	37	chr9	8404589	8404589	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcatatgcgattacattcgcGtatctattctttggtttgtt	7	20	7	7	3	3	0	1	0	2	0	4	1	3	0	0	1	2	3	0	1	4	9			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:8404589G>A	ENST00000381196.4	-	33	4701	c.4158C>T	c.(4156-4158)taC>taT	p.Y1386Y	PTPRD_ENST00000397611.3_Silent_p.Y976Y|PTPRD_ENST00000537002.1_Silent_p.Y976Y|PTPRD_ENST00000360074.4_Silent_p.Y1373Y|PTPRD_ENST00000358503.5_Silent_p.Y1364Y|PTPRD_ENST00000355233.5_Silent_p.Y980Y|PTPRD_ENST00000486161.1_Silent_p.Y979Y|PTPRD_ENST00000397617.3_Silent_p.Y979Y|PTPRD_ENST00000540109.1_Silent_p.Y1386Y|PTPRD_ENST00000356435.5_Silent_p.Y1386Y|PTPRD_ENST00000397606.3_Silent_p.Y979Y	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	1386	Tyrosine-protein phosphatase 1. {ECO:0000255|PROSITE-ProRule:PRU00160}.				heterophilic cell-cell adhesion (GO:0007157)|neuron differentiation (GO:0030182)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|positive regulation of dendrite morphogenesis (GO:0050775)|presynaptic membrane assembly (GO:0097105)|protein dephosphorylation (GO:0006470)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	cell adhesion molecule binding (GO:0050839)|receptor binding (GO:0005102)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		TTACATTCGCGTATCTATTCT	0.383										TSP Lung(15;0.13)																												ENST00000381196.4																			0				NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168						c.(4156-4158)taC>taT		protein tyrosine phosphatase, receptor type, D							191	160	171					9																	8404589		2203	4300	6503	SO:0001819	synonymous_variant	5789				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr9:8404589G>A	X54133	CCDS6472.1, CCDS43786.1, CCDS6472.2, CCDS55288.1, CCDS55289.1, CCDS55290.1, CCDS75813.1	9p24.1-p23	2013-02-11			ENSG00000153707	ENSG00000153707		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	9668	protein-coding gene	gene with protein product		601598				7896816, 8355697	Standard	NM_002839		Approved	PTPD, HPTP	uc003zkk.3	P23468	OTTHUMG00000021005	ENST00000381196.4:c.4158C>T	9.37:g.8404589G>A		TSP Lung(15;0.13)				PTPRD_ENST00000356435.5_Silent_p.Y1386Y|PTPRD_ENST00000537002.1_Silent_p.Y976Y|PTPRD_ENST00000540109.1_Silent_p.Y1386Y|PTPRD_ENST00000355233.5_Silent_p.Y980Y|PTPRD_ENST00000486161.1_Silent_p.Y979Y|PTPRD_ENST00000360074.4_Silent_p.Y1373Y|PTPRD_ENST00000358503.5_Silent_p.Y1364Y|PTPRD_ENST00000397606.3_Silent_p.Y979Y|PTPRD_ENST00000397611.3_Silent_p.Y976Y|PTPRD_ENST00000397617.3_Silent_p.Y979Y	p.Y1386Y	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)	33	4701	-		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)	1386			Tyrosine-protein phosphatase 1.		B1ALA0|F5GWT7|Q3KPJ0|Q3KPJ1|Q3KPJ2	Silent	SNP	ENST00000381196.4	37	c.4158C>T	CCDS43786.1																																																																																				0.383	PTPRD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055395.3			27	36	0	0	0	1	0	27	36					A	8404589	G	A	8404589	2	1	435	1	0	0	0	0	0	0	0	1	12799	1140	40	1		1	PTPRD	9	8404589	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	1851093	8404589	132808842	4218	25143											
PTPRD	5789	broad.mit.edu	37	chr9	8499806	8499806	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acagatgttgagttgacagcCtctacctcgactttgcgagg	9	11	11	10	2	1	3	0	2	1	1	2	5	1	3	2	1	3	2	2	1	1	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:8499806C>A	ENST00000381196.4	-	22	2706	c.2163G>T	c.(2161-2163)gaG>gaT	p.E721D	PTPRD_ENST00000397611.3_Intron|PTPRD_ENST00000537002.1_Intron|PTPRD_ENST00000360074.4_Missense_Mutation_p.E708D|PTPRD_ENST00000358503.5_Missense_Mutation_p.E708D|PTPRD_ENST00000355233.5_Intron|PTPRD_ENST00000486161.1_Intron|PTPRD_ENST00000397617.3_Intron|PTPRD_ENST00000540109.1_Missense_Mutation_p.E721D|PTPRD_ENST00000471274.1_5'UTR|PTPRD_ENST00000356435.5_Missense_Mutation_p.E721D|PTPRD_ENST00000397606.3_Intron	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	721	Fibronectin type-III 5. {ECO:0000255|PROSITE-ProRule:PRU00316}.				heterophilic cell-cell adhesion (GO:0007157)|neuron differentiation (GO:0030182)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|positive regulation of dendrite morphogenesis (GO:0050775)|presynaptic membrane assembly (GO:0097105)|protein dephosphorylation (GO:0006470)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	cell adhesion molecule binding (GO:0050839)|receptor binding (GO:0005102)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		AGTTGACAGCCTCTACCTCGA	0.463										TSP Lung(15;0.13)																												ENST00000381196.4																			0				NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168						c.(2161-2163)gaG>gaT		protein tyrosine phosphatase, receptor type, D							134	120	124					9																	8499806		2203	4300	6503	SO:0001583	missense	5789				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr9:8499806C>A	X54133	CCDS6472.1, CCDS43786.1, CCDS6472.2, CCDS55288.1, CCDS55289.1, CCDS55290.1, CCDS75813.1	9p24.1-p23	2013-02-11			ENSG00000153707	ENSG00000153707		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	9668	protein-coding gene	gene with protein product		601598				7896816, 8355697	Standard	NM_002839		Approved	PTPD, HPTP	uc003zkk.3	P23468	OTTHUMG00000021005	ENST00000381196.4:c.2163G>T	9.37:g.8499806C>A	ENSP00000370593:p.Glu721Asp	TSP Lung(15;0.13)				PTPRD_ENST00000356435.5_Missense_Mutation_p.E721D|PTPRD_ENST00000537002.1_Intron|PTPRD_ENST00000540109.1_Missense_Mutation_p.E721D|PTPRD_ENST00000355233.5_Intron|PTPRD_ENST00000471274.1_5'UTR|PTPRD_ENST00000486161.1_Intron|PTPRD_ENST00000360074.4_Missense_Mutation_p.E708D|PTPRD_ENST00000358503.5_Missense_Mutation_p.E708D|PTPRD_ENST00000397606.3_Intron|PTPRD_ENST00000397611.3_Intron|PTPRD_ENST00000397617.3_Intron	p.E721D	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)	22	2706	-		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)	721			Fibronectin type-III 5.		B1ALA0|F5GWT7|Q3KPJ0|Q3KPJ1|Q3KPJ2	Missense_Mutation	SNP	ENST00000381196.4	37	c.2163G>T	CCDS43786.1	.	.	.	.	.	.	.	.	.	.	C	25.9	4.689400	0.88735	.	.	ENSG00000153707	ENST00000381196;ENST00000356435;ENST00000360074;ENST00000358503;ENST00000540109	T;T;T;T;T	0.57595	0.39;0.39;0.39;0.39;0.39	5.69	5.69	0.88448	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.43077	0.1231	L	0.31578	0.945	0.80722	D	1	B;B;B	0.33171	0.112;0.4;0.009	B;B;B	0.30251	0.049;0.113;0.033	T	0.22661	-1.0210	9	.	.	.	.	19.824	0.96608	0.0:1.0:0.0:0.0	.	708;721;721	G3XAE2;Q2HXI4;P23468	.;.;PTPRD_HUMAN	D	721;721;708;708;721	ENSP00000370593:E721D;ENSP00000348812:E721D;ENSP00000353187:E708D;ENSP00000351293:E708D;ENSP00000438164:E721D	.	E	-	3	2	PTPRD	8489806	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.487000	0.81328	2.699000	0.92147	0.591000	0.81541	GAG		0.463	PTPRD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055395.3			17	45	1	0	8.34094e-07	1	8.70022e-07	17	45					A	8499806	C	A	8499806	3	1	435	1	0	0	0	0	1	0	0	0	12799	680	24	5	3731	5	PTPRD	9	8499806	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	95217	8499806	132713625	4219	25144											
PTPRD	5789	broad.mit.edu	37	chr9	8501014	8501014	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	aacttaccaaaatactagtgGaacttgggctggtgcaacta	14	10	9	8	0	0	0	0	0	0	0	0	1	0	1	1	3	6	2	1	3	9	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:8501014G>A	ENST00000381196.4	-	21	2411	c.1868C>T	c.(1867-1869)tCc>tTc	p.S623F	PTPRD_ENST00000397611.3_Intron|PTPRD_ENST00000537002.1_Intron|PTPRD_ENST00000360074.4_Missense_Mutation_p.S610F|PTPRD_ENST00000358503.5_Missense_Mutation_p.S610F|PTPRD_ENST00000355233.5_Intron|PTPRD_ENST00000486161.1_Intron|PTPRD_ENST00000397617.3_Intron|PTPRD_ENST00000540109.1_Missense_Mutation_p.S623F|PTPRD_ENST00000471274.1_5'UTR|PTPRD_ENST00000356435.5_Missense_Mutation_p.S623F|PTPRD_ENST00000397606.3_Intron	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	623	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				heterophilic cell-cell adhesion (GO:0007157)|neuron differentiation (GO:0030182)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|positive regulation of dendrite morphogenesis (GO:0050775)|presynaptic membrane assembly (GO:0097105)|protein dephosphorylation (GO:0006470)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	cell adhesion molecule binding (GO:0050839)|receptor binding (GO:0005102)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.S623F(1)		NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		AATACTAGTGGAACTTGGGCT	0.443										TSP Lung(15;0.13)																												ENST00000381196.4																			1	Substitution - Missense(1)	p.S623F(1)	skin(1)	NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168						c.(1867-1869)tCc>tTc		protein tyrosine phosphatase, receptor type, D							120	111	114					9																	8501014		2203	4300	6503	SO:0001583	missense	5789				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr9:8501014G>A	X54133	CCDS6472.1, CCDS43786.1, CCDS6472.2, CCDS55288.1, CCDS55289.1, CCDS55290.1, CCDS75813.1	9p24.1-p23	2013-02-11			ENSG00000153707	ENSG00000153707		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	9668	protein-coding gene	gene with protein product		601598				7896816, 8355697	Standard	NM_002839		Approved	PTPD, HPTP	uc003zkk.3	P23468	OTTHUMG00000021005	ENST00000381196.4:c.1868C>T	9.37:g.8501014G>A	ENSP00000370593:p.Ser623Phe	TSP Lung(15;0.13)				PTPRD_ENST00000356435.5_Missense_Mutation_p.S623F|PTPRD_ENST00000537002.1_Intron|PTPRD_ENST00000540109.1_Missense_Mutation_p.S623F|PTPRD_ENST00000355233.5_Intron|PTPRD_ENST00000471274.1_5'UTR|PTPRD_ENST00000486161.1_Intron|PTPRD_ENST00000360074.4_Missense_Mutation_p.S610F|PTPRD_ENST00000358503.5_Missense_Mutation_p.S610F|PTPRD_ENST00000397606.3_Intron|PTPRD_ENST00000397611.3_Intron|PTPRD_ENST00000397617.3_Intron	p.S623F	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)	21	2411	-		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)	623			Fibronectin type-III 4.		B1ALA0|F5GWT7|Q3KPJ0|Q3KPJ1|Q3KPJ2	Missense_Mutation	SNP	ENST00000381196.4	37	c.1868C>T	CCDS43786.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.067909	0.76301	.	.	ENSG00000153707	ENST00000381196;ENST00000356435;ENST00000360074;ENST00000358503;ENST00000540109	T;T;T;T;T	0.60672	0.17;0.17;0.17;0.17;0.17	5.76	5.76	0.90799	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.112738	0.64402	D	0.000006	D	0.84220	0.5424	H	0.95780	3.72	0.80722	D	1	D;D;D	0.89917	1.0;0.989;0.999	D;D;D	0.77004	0.988;0.913;0.989	D	0.88317	0.2960	9	.	.	.	.	19.9574	0.97228	0.0:0.0:1.0:0.0	.	610;623;623	G3XAE2;Q2HXI4;P23468	.;.;PTPRD_HUMAN	F	623;623;610;610;623	ENSP00000370593:S623F;ENSP00000348812:S623F;ENSP00000353187:S610F;ENSP00000351293:S610F;ENSP00000438164:S623F	.	S	-	2	0	PTPRD	8491014	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.476000	0.97823	2.715000	0.92844	0.561000	0.74099	TCC		0.443	PTPRD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055395.3			5	37	0	0	0	1	0	5	37					A	8501014	G	A	8501014	3	1	435	1	0	0	0	0	1	0	0	0	12799	1174	41	3	4030	3	PTPRD	9	8501014	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	1208	8501014	132712417	4220	25145											
MPDZ	8777	broad.mit.edu	37	chr9	13168390	13168390	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcagggccaatgagagaatGtcttctcaacatagctcgtg	11	10	11	9	1	3	2	2	1	2	1	5	3	3	2	1	1	2	1	1	1	4	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:13168390G>A	ENST00000319217.7	-	22	3476	c.3229C>T	c.(3229-3231)Cat>Tat	p.H1077Y	MPDZ_ENST00000381022.2_Missense_Mutation_p.H1077Y|MPDZ_ENST00000546205.1_Missense_Mutation_p.H1077Y|MPDZ_ENST00000541718.1_Missense_Mutation_p.H1077Y|MPDZ_ENST00000538841.1_5'Flank|MPDZ_ENST00000536827.1_Missense_Mutation_p.H1077Y|MPDZ_ENST00000381015.4_Missense_Mutation_p.H1077Y|MPDZ_ENST00000447879.1_Missense_Mutation_p.H1077Y	NM_001261406.1	NP_001248335.1	O75970	MPDZ_HUMAN	multiple PDZ domain protein	1077	PDZ 6. {ECO:0000255|PROSITE- ProRule:PRU00143}.				cell adhesion (GO:0007155)|myelination (GO:0042552)|viral process (GO:0016032)	apical plasma membrane (GO:0016324)|apicolateral plasma membrane (GO:0016327)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|neuron projection (GO:0043005)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)|tight junction (GO:0005923)	protein C-terminus binding (GO:0008022)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(15)|ovary(5)|prostate(7)|stomach(1)|urinary_tract(2)	61				GBM - Glioblastoma multiforme(50;2.03e-06)		ATGAGAGAATGTCTTCTCAAC	0.408																																						ENST00000319217.7																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(15)|ovary(5)|prostate(7)|stomach(1)|urinary_tract(2)	61						c.(3229-3231)Cat>Tat		multiple PDZ domain protein							201	193	195					9																	13168390		1915	4141	6056	SO:0001583	missense	8777				interspecies interaction between organisms	apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	protein C-terminus binding	g.chr9:13168390G>A	AF093419	CCDS47951.1, CCDS59119.1, CCDS59120.1	9p23	2008-05-15			ENSG00000107186	ENSG00000107186			7208	protein-coding gene	gene with protein product		603785					Standard	NM_003829		Approved	MUPP1	uc003zlb.4	O75970	OTTHUMG00000021031	ENST00000319217.7:c.3229C>T	9.37:g.13168390G>A	ENSP00000320006:p.His1077Tyr					MPDZ_ENST00000541718.1_Missense_Mutation_p.H1077Y|MPDZ_ENST00000381022.2_Missense_Mutation_p.H1077Y|MPDZ_ENST00000381015.4_Missense_Mutation_p.H1077Y|MPDZ_ENST00000536827.1_Missense_Mutation_p.H1077Y|MPDZ_ENST00000447879.1_Missense_Mutation_p.H1077Y|MPDZ_ENST00000546205.1_Missense_Mutation_p.H1077Y	p.H1077Y	NM_001261406.1	NP_001248335.1	O75970	MPDZ_HUMAN		GBM - Glioblastoma multiforme(50;2.03e-06)	22	3476	-			1077			PDZ 6.		A6NLC2|B2RTS3|B7ZMI4|O43798|Q4LE30|Q5CZ80|Q5JTX3|Q5JTX6|Q5JTX7|Q5JUC3|Q5JUC4|Q5VZ62|Q8N790	Missense_Mutation	SNP	ENST00000319217.7	37	c.3229C>T		.	.	.	.	.	.	.	.	.	.	G	25.7	4.668075	0.88348	.	.	ENSG00000107186	ENST00000319217;ENST00000541718;ENST00000381022;ENST00000545857;ENST00000536827;ENST00000447879;ENST00000381015;ENST00000399902;ENST00000546205	T;T;T;T;T;T;T;T	0.38401	1.14;1.14;1.14;1.14;1.14;1.14;1.14;1.14	5.36	5.36	0.76844	.	0.000000	0.41396	D	0.000899	T	0.58779	0.2146	M	0.68952	2.095	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	T	0.50074	-0.8870	10	0.20046	T	0.44	.	19.4592	0.94910	0.0:0.0:1.0:0.0	.	1077;1077;1077	B7ZMI4;O75970-3;O75970-2	.;.;.	Y	1077;1077;1077;83;1077;1077;1077;1027;1077	ENSP00000320006:H1077Y;ENSP00000439807:H1077Y;ENSP00000370410:H1077Y;ENSP00000444230:H83Y;ENSP00000444151:H1077Y;ENSP00000415208:H1077Y;ENSP00000370403:H1077Y;ENSP00000446358:H1077Y	ENSP00000320006:H1077Y	H	-	1	0	MPDZ	13158390	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	9.420000	0.97426	2.656000	0.90262	0.655000	0.94253	CAT		0.408	MPDZ-001	KNOWN	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000055485.2	NM_003829		61	84	0	0	0	1	0	61	84					A	13168390	G	A	13168390	3	1	435	1	0	0	0	0	1	0	0	0	9722	1377	48	3	2996	3	MPDZ	9	13168390	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	4667376	13168390	128045041	4221	25146											
NFIB	4781	broad.mit.edu	37	chr9	14125766	14125766	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtagtcggagaagacatatCtgcgagaaacagagaaaaac	19	5	11	6	2	1	4	0	0	1	4	2	7	1	4	0	1	3	1	0	1	6	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:14125766C>A	ENST00000380959.3	-	7	1399		c.e7-1		NFIB_ENST00000397581.2_Splice_Site|NFIB_ENST00000380953.1_Splice_Site|NFIB_ENST00000397575.3_Splice_Site|NFIB_ENST00000380924.1_Splice_Site|NFIB_ENST00000380934.4_Splice_Site|NFIB_ENST00000543693.1_Splice_Site|NFIB_ENST00000397579.2_Splice_Site	NM_005596.3	NP_005587.2	O00712	NFIB_HUMAN	nuclear factor I/B						anterior commissure morphogenesis (GO:0021960)|chondrocyte differentiation (GO:0002062)|Clara cell differentiation (GO:0060486)|commissural neuron axon guidance (GO:0071679)|DNA replication (GO:0006260)|glial cell differentiation (GO:0010001)|hindbrain development (GO:0030902)|lung ciliated cell differentiation (GO:0061141)|negative regulation of DNA binding (GO:0043392)|negative regulation of epithelial cell proliferation involved in lung morphogenesis (GO:2000795)|negative regulation of mesenchymal cell proliferation involved in lung development (GO:2000791)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|principal sensory nucleus of trigeminal nerve development (GO:0021740)|transcription from RNA polymerase II promoter (GO:0006366)|Type I pneumocyte differentiation (GO:0060509)|Type II pneumocyte differentiation (GO:0060510)	cerebellar mossy fiber (GO:0044300)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(5)|skin(1)	17				GBM - Glioblastoma multiforme(50;4.4e-08)|LUAD - Lung adenocarcinoma(58;0.119)|Lung(218;0.164)		GAAGACATATCTGCGAGAAAC	0.428			T	"MYB, HGMA2"	"adenoid cystic carcinoma, lipoma"																																Esophageal Squamous(132;921 1730 14828 40753 46471)	ENST00000380959.3				Dom	yes		9	9p24.1	4781	T	nuclear factor I/B			E	"MYB, HGMA2"		"adenoid cystic carcinoma, lipoma"		0				central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(5)|skin(1)	17						c.e7-1		nuclear factor I/B							85	85	85					9																	14125766		2203	4300	6503	SO:0001630	splice_region_variant	4781				anterior commissure morphogenesis|chondrocyte differentiation|Clara cell differentiation|commissural neuron axon guidance|DNA replication|glial cell differentiation|lung ciliated cell differentiation|negative regulation of DNA binding|negative regulation of epithelial cell proliferation involved in lung morphogenesis|negative regulation of mesenchymal cell proliferation involved in lung development|positive regulation of transcription from RNA polymerase II promoter|principal sensory nucleus of trigeminal nerve development|Type I pneumocyte differentiation|Type II pneumocyte differentiation	cerebellar mossy fiber|nucleolus|nucleus	RNA polymerase II transcription corepressor activity|sequence-specific DNA binding RNA polymerase II transcription factor activity	g.chr9:14125766C>A	U07810	CCDS6474.1, CCDS55291.1, CCDS55292.1, CCDS65007.1	9p24.1	2008-02-05			ENSG00000147862	ENSG00000147862			7785	protein-coding gene	gene with protein product		600728				7590749	Standard	NM_001190737		Approved	NFI-RED, NFIB2, NFIB3	uc003zlf.3	O00712	OTTHUMG00000021027	ENST00000380959.3:c.926-1G>T	9.37:g.14125766C>A						NFIB_ENST00000380953.1_Splice_Site|NFIB_ENST00000397581.2_Splice_Site|NFIB_ENST00000380934.4_Splice_Site|NFIB_ENST00000380924.1_Splice_Site|NFIB_ENST00000397575.3_Splice_Site|NFIB_ENST00000543693.1_Splice_Site|NFIB_ENST00000397579.2_Splice_Site		NM_005596.3	NP_005587.2	O00712	NFIB_HUMAN		GBM - Glioblastoma multiforme(50;4.4e-08)|LUAD - Lung adenocarcinoma(58;0.119)|Lung(218;0.164)	7	1399	-								G3V1P1|H7BYE8|O00166|Q12858|Q5VW29|Q63HM5|Q6ZNF9|Q96J45	Splice_Site	SNP	ENST00000380959.3	37		CCDS6474.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.389890	0.82902	.	.	ENSG00000147862	ENST00000380934;ENST00000380959;ENST00000380953;ENST00000397575;ENST00000397581;ENST00000397579;ENST00000543693;ENST00000380924	.	.	.	5.7	5.7	0.88788	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.8437	0.96701	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	NFIB	14115766	1.000000	0.71417	1.000000	0.80357	0.893000	0.52053	7.241000	0.78201	2.693000	0.91896	0.585000	0.79938	.		0.428	NFIB-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000055468.1	NM_005596	Intron	23	35	1	0	2.89027e-11	1	3.10618e-11	23	35					A	14125766	C	A	14125766	5	1	435	1	0	0	0	0	0	0	1	0	10371	927	32	5	349	5	NFIB	9	14125766	Splice_Site	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	957376	14125766	127087665	4222	25147											
FREM1	158326	broad.mit.edu	37	chr9	14808119	14808119	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gtgtcaaaacaaggcatcagGccaatctcgccacctggaag	13	6	10	12	1	3	0	2	0	1	0	4	1	3	1	3	3	1	1	3	3	5	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:14808119G>A	ENST00000380880.3	-	17	3690	c.2907C>T	c.(2905-2907)ggC>ggT	p.G969G	FREM1_ENST00000422223.2_Silent_p.G969G|FREM1_ENST00000380881.4_Silent_p.G970G			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	969					cell communication (GO:0007154)|cell-matrix adhesion (GO:0007160)|craniofacial suture morphogenesis (GO:0097094)	basement membrane (GO:0005604)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		AAGGCATCAGGCCAATCTCGC	0.438																																						ENST00000380881.4																			0				breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100						c.(2908-2910)ggC>ggT		FRAS1 related extracellular matrix 1							117	113	114					9																	14808119		2024	4178	6202	SO:0001819	synonymous_variant	158326				cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding	g.chr9:14808119G>A	AK058190	CCDS47952.1, CCDS55293.1	9p22.3	2010-06-04	2004-12-15	2004-12-15	ENSG00000164946	ENSG00000164946			23399	protein-coding gene	gene with protein product		608944	"chromosome 9 open reading frame 154"	C9orf154		12838346, 15345741	Standard	NM_144966		Approved	FLJ25461, C9orf145, C9orf143, DKFZp686M16108, TILRR	uc003zlm.3	Q5H8C1	OTTHUMG00000019575	ENST00000380880.3:c.2907C>T	9.37:g.14808119G>A						FREM1_ENST00000380880.3_Silent_p.G969G|FREM1_ENST00000422223.2_Silent_p.G969G	p.G970G			Q5H8C1	FREM1_HUMAN		GBM - Glioblastoma multiforme(50;3.53e-06)	18	3725	-			969					B7ZBX4|Q5VV00|Q5VV01|Q6MZI4|Q8NEG9|Q96LI3	Silent	SNP	ENST00000380880.3	37	c.2910C>T	CCDS47952.1																																																																																				0.438	FREM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000339474.2	NM_144966		17	23	0	0	0	1	0	17	23					A	14808119	G	A	14808119	2	1	435	1	0	0	0	0	0	0	0	1	6044	1190	42	3		3	FREM1	9	14808119	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	682353	14808119	126405312	4223	25148											
PSIP1	11168	broad.mit.edu	37	chr9	15478515	15478515	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gggctgttttaccattttggGtctgcctcttggttttggaa	4	18	12	7	0	2	0	0	0	2	0	2	1	2	1	2	4	2	3	2	4	2	7			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:15478515G>A	ENST00000380733.4	-	8	932	c.589C>T	c.(589-591)Ccc>Tcc	p.P197S	PSIP1_ENST00000380738.4_Missense_Mutation_p.P197S|PSIP1_ENST00000380716.4_Missense_Mutation_p.P197S|PSIP1_ENST00000397519.2_Missense_Mutation_p.P197S|PSIP1_ENST00000380715.1_Missense_Mutation_p.P197S			O75475	PSIP1_HUMAN	PC4 and SFRS1 interacting protein 1	197					establishment of integrated proviral latency (GO:0075713)|mRNA 5'-splice site recognition (GO:0000395)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to heat (GO:0009408)|response to oxidative stress (GO:0006979)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytosol (GO:0005829)|nuclear heterochromatin (GO:0005720)|nuclear periphery (GO:0034399)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcriptionally active chromatin (GO:0035327)	activating transcription factor binding (GO:0033613)|chromatin binding (GO:0003682)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription coactivator activity (GO:0001105)|supercoiled DNA binding (GO:0097100)			breast(2)|endometrium(2)|kidney(1)|lung(3)|prostate(1)	9				GBM - Glioblastoma multiforme(50;2.38e-06)		ACCATTTTGGGTCTGCCTCTT	0.318																																						ENST00000380733.4																			0				breast(2)|endometrium(2)|kidney(1)|lung(3)|prostate(1)	9						c.(589-591)Ccc>Tcc		PC4 and SFRS1 interacting protein 1							161	159	160					9																	15478515		2203	4300	6503	SO:0001583	missense	11168				initiation of viral infection|interspecies interaction between organisms|nuclear mRNA 5'-splice site recognition|provirus integration|regulation of transcription, DNA-dependent|response to heat|response to oxidative stress|transcription, DNA-dependent	cytosol|nuclear heterochromatin|nuclear periphery|nucleoplasm|transcriptionally active chromatin	activating transcription factor binding|chromatin binding|DNA secondary structure binding|RNA polymerase II transcription coactivator activity	g.chr9:15478515G>A	AF098482	CCDS6479.1, CCDS6480.1	9p22.2	2008-02-05	2004-02-24		ENSG00000164985	ENSG00000164985			9527	protein-coding gene	gene with protein product		603620	"PC4 and SFRS1 interacting protein 2"	PSIP2		9822615, 9885563	Standard	NM_033222		Approved	p52, LEDGF, p75	uc003zlw.4	O75475	OTTHUMG00000021021	ENST00000380733.4:c.589C>T	9.37:g.15478515G>A	ENSP00000370109:p.Pro197Ser					PSIP1_ENST00000380738.4_Missense_Mutation_p.P197S|PSIP1_ENST00000380716.4_Missense_Mutation_p.P197S|PSIP1_ENST00000380715.1_Missense_Mutation_p.P197S|PSIP1_ENST00000397519.2_Missense_Mutation_p.P197S	p.P197S			O75475	PSIP1_HUMAN		GBM - Glioblastoma multiforme(50;2.38e-06)	8	932	-			197					D3DRI9|O00256|O95368|Q6P391|Q86YB9|Q9NZI3|Q9UER6	Missense_Mutation	SNP	ENST00000380733.4	37	c.589C>T	CCDS6479.1	.	.	.	.	.	.	.	.	.	.	G	17.16	3.318269	0.60524	.	.	ENSG00000164985	ENST00000380733;ENST00000380738;ENST00000380715;ENST00000380716;ENST00000397519	T;T;T;T;T	0.47528	0.84;0.84;0.92;0.92;0.92	5.93	5.93	0.95920	.	0.099877	0.64402	D	0.000001	T	0.67571	0.2907	M	0.63843	1.955	0.47819	D	0.999523	D;D;D	0.71674	0.998;0.997;0.994	D;P;P	0.66351	0.943;0.879;0.796	T	0.67465	-0.5664	10	0.72032	D	0.01	.	20.3334	0.98727	0.0:0.0:1.0:0.0	.	197;197;197	O75475-2;Q05CM9;O75475	.;.;PSIP1_HUMAN	S	197	ENSP00000370109:P197S;ENSP00000370114:P197S;ENSP00000370091:P197S;ENSP00000370092:P197S;ENSP00000380653:P197S	ENSP00000370091:P197S	P	-	1	0	PSIP1	15468515	1.000000	0.71417	1.000000	0.80357	0.835000	0.47333	6.282000	0.72639	2.818000	0.97014	0.591000	0.81541	CCC		0.318	PSIP1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055445.1	NM_033222		60	79	0	0	0	1	0	60	79					A	15478515	G	A	15478515	3	1	435	1	0	0	0	0	1	0	0	0	12663	1261	44	3	1068	3	PSIP1	9	15478515	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	670396	15478515	125734916	4224	25149											
C9orf93	203238	broad.mit.edu	37	chr9	15778980	15778980	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caacagaaaagcacagcatcGttgcagaagcaaatacttgg	17	6	9	9	1	0	2	0	0	0	2	1	2	0	2	0	1	6	5	0	1	6	3	rs375214888		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:15778980G>A	ENST00000380701.3	+	20	3241	c.2913G>A	c.(2911-2913)tcG>tcA	p.S971S	CCDC171_ENST00000297641.3_Silent_p.S971S|RNU6-14P_ENST00000384630.1_RNA	NM_173550.2	NP_775821.2	Q6TFL3	CC171_HUMAN	coiled-coil domain containing 171	971																	GCACAGCATCGTTGCAGAAGC	0.368																																						ENST00000380701.3																			0											c.(2911-2913)tcG>tcA		coiled-coil domain containing 171		G		0,4406		0,0,2203	60	60	60		2913	-9.8	0.1	9		60	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	C9orf93	NM_173550.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		971/1327	15778980	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	203238							g.chr9:15778980G>A	AY422473	CCDS6481.1	9p22.2	2012-03-26	2012-03-26	2012-03-26	ENSG00000164989	ENSG00000164989			29828	protein-coding gene	gene with protein product	"myosin tail domain containing protein"		"chromosome 9 open reading frame 93"	C9orf93		14702039	Standard	NM_173550		Approved	FLJ39267, FLJ46740, Em:AL513423.1, bA778P13.1, bA536D16.1	uc003zmd.3	Q6TFL3	OTTHUMG00000019584	ENST00000380701.3:c.2913G>A	9.37:g.15778980G>A						CCDC171_ENST00000297641.3_Silent_p.S971S	p.S971S	NM_173550.2	NP_775821.2	Q6TFL3	CI093_HUMAN			20	3241	+			971					B7ZM22|Q5SU58|Q6P1W1|Q6ZR13|Q8N1Z4|Q8N8L3|Q8TBR2	Silent	SNP	ENST00000380701.3	37	c.2913G>A	CCDS6481.1	.	.	.	.	.	.	.	.	.	.	G	3.369	-0.128732	0.06753	0.0	1.16E-4	ENSG00000164989	ENST00000449575;ENST00000432954	.	.	.	5.3	-9.82	0.00484	.	.	.	.	.	T	0.15176	0.0366	.	.	.	0.09310	N	0.999994	.	.	.	.	.	.	T	0.19160	-1.0314	4	.	.	.	-3.2427	2.5144	0.04665	0.1438:0.347:0.3148:0.1944	.	.	.	.	H	211;25	.	.	R	+	2	0	C9orf93	15768980	0.002000	0.14202	0.114000	0.21550	0.613000	0.37349	-2.024000	0.01436	-1.059000	0.03193	-1.271000	0.01417	CGT		0.368	CCDC171-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051768.4	NM_173550		24	44	0	0	0	1	0	24	44					A	15778980	G	A	15778980	2	1	435	1	0	0	0	0	0	0	0	1	2506	1132	40	1		1	C9orf93	9	15778980	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	300465	15778980	125434451	4225	25150											
BNC2	54796	broad.mit.edu	37	chr9	16436967	16436967	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggttagatcactgactggggCagaattctgaatgggagaga	12	9	15	5	0	2	5	1	2	1	3	2	7	2	6	0	4	0	2	0	4	3	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:16436967C>T	ENST00000380672.4	-	6	1282	c.1225G>A	c.(1225-1227)Gcc>Acc	p.A409T	BNC2_ENST00000545497.1_Missense_Mutation_p.A314T|BNC2_ENST00000380667.2_Missense_Mutation_p.A342T|BNC2_ENST00000380666.2_Missense_Mutation_p.A409T	NM_017637.5	NP_060107.3			basonuclin 2											NS(2)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(16)|liver(1)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(50;9.01e-08)		CTGACTGGGGCAGAATTCTGA	0.463																																						ENST00000380672.4																			0				NS(2)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(16)|liver(1)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	60						c.(1225-1227)Gcc>Acc		basonuclin 2							77	77	77					9																	16436967		2203	4300	6503	SO:0001583	missense	54796				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	zinc ion binding	g.chr9:16436967C>T	AK092247	CCDS6482.2	9p22.2	2013-05-20			ENSG00000173068	ENSG00000173068		"Zinc fingers, C2H2-type"	30988	protein-coding gene	gene with protein product		608669				14702039	Standard	XM_006716784		Approved	BSN2, FLJ20043	uc003zml.3	Q6ZN30	OTTHUMG00000019593	ENST00000380672.4:c.1225G>A	9.37:g.16436967C>T	ENSP00000370047:p.Ala409Thr					BNC2_ENST00000380667.2_Missense_Mutation_p.A342T|BNC2_ENST00000380666.2_Missense_Mutation_p.A409T|BNC2_ENST00000545497.1_Missense_Mutation_p.A314T	p.A409T	NM_017637.5	NP_060107.3	Q6ZN30	BNC2_HUMAN		GBM - Glioblastoma multiforme(50;9.01e-08)	6	1282	-			409						Missense_Mutation	SNP	ENST00000380672.4	37	c.1225G>A	CCDS6482.2	.	.	.	.	.	.	.	.	.	.	C	6.216	0.408033	0.11754	.	.	ENSG00000173068	ENST00000380672;ENST00000418777;ENST00000380667;ENST00000545497;ENST00000544198;ENST00000380666;ENST00000540340	T;T;T;T;T	0.30714	1.56;1.54;1.57;1.57;1.52	5.96	5.07	0.68467	.	0.171243	0.52532	D	0.000078	T	0.09247	0.0228	N	0.00926	-1.1	0.30303	N	0.789245	B;B;B;B;B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0	B;B;B;B;B;B;B;B;B	0.04013	0.0;0.0;0.001;0.001;0.0;0.0;0.0;0.0;0.0	T	0.16600	-1.0397	10	0.15066	T	0.55	-7.5351	7.2254	0.26012	0.0:0.7223:0.0:0.2777	.	314;342;409;235;409;366;409;314;174	F5H586;B1APH0;Q6ZN30-2;B4E3J2;F5H8G9;Q5H9S4;Q6ZN30;B4DR27;D3DRJ1	.;.;.;.;.;.;BNC2_HUMAN;.;.	T	409;366;342;314;235;409;409	ENSP00000370047:A409T;ENSP00000408370:A366T;ENSP00000370042:A342T;ENSP00000444640:A314T;ENSP00000370041:A409T	ENSP00000370041:A409T	A	-	1	0	BNC2	16426967	1.000000	0.71417	1.000000	0.80357	0.873000	0.50193	1.213000	0.32407	1.526000	0.49068	0.655000	0.94253	GCC		0.463	BNC2-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000216901.5	NM_017637		15	35	0	0	0	1	0	15	35					T	16436967	C	T	16436967	3	4	435	1	0	0	0	0	1	0	0	0	1475	710	25	3	2082	3	BNC2	9	16436967	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	657987	16436967	124776464	4226	25151											
ADAMTSL1	92949	broad.mit.edu	37	chr9	18681926	18681926	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccccacataaaagaggaatgCatcgtacccactccctgcta	13	7	6	15	1	0	1	0	0	0	1	2	2	1	2	4	1	3	3	4	1	5	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:18681926C>T	ENST00000380548.4	+	12	1797	c.1458C>T	c.(1456-1458)tgC>tgT	p.C486C	ADAMTSL1_ENST00000276935.6_Silent_p.C486C|ADAMTSL1_ENST00000327883.7_Silent_p.C486C	NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1	486	TSP type-1 3. {ECO:0000255|PROSITE- ProRule:PRU00210}.					proteinaceous extracellular matrix (GO:0005578)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		AAGAGGAATGCATCGTACCCA	0.488																																						ENST00000380548.4																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42						c.(1456-1458)tgC>tgT		ADAMTS-like 1							233	211	218					9																	18681926		2203	4300	6503	SO:0001819	synonymous_variant	92949					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding	g.chr9:18681926C>T	AF176313	CCDS6485.1, CCDS47954.1	9p21.3	2013-01-11			ENSG00000178031	ENSG00000178031		"Immunoglobulin superfamily / I-set domain containing"	14632	protein-coding gene	gene with protein product	"punctin"	609198	"chromosome 9 open reading frame 94"	C9orf94		9628581, 11805097	Standard	NM_001040272		Approved	ADAMTSR1, FLJ35283	uc003zne.4	Q8N6G6	OTTHUMG00000019604	ENST00000380548.4:c.1458C>T	9.37:g.18681926C>T						ADAMTSL1_ENST00000327883.7_Silent_p.C486C|ADAMTSL1_ENST00000276935.6_Silent_p.C486C	p.C486C	NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN		GBM - Glioblastoma multiforme(50;1.29e-17)	12	1797	+			486			TSP type-1 3.		A6PVN1|A8K7E1|Q496M6|Q496M8|Q5T708|Q5VZT8|Q8NAI9|Q96RW4|Q9BXY3	Silent	SNP	ENST00000380548.4	37	c.1458C>T	CCDS47954.1																																																																																				0.488	ADAMTSL1-012	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401206.1			38	66	0	0	0	1	0	38	66					T	18681926	C	T	18681926	2	4	435	1	0	0	0	0	0	0	0	1	274	718	25	3		3	ADAMTSL1	9	18681926	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	2244959	18681926	122531505	4227	25152											
ADAMTSL1	92949	broad.mit.edu	37	chr9	18887911	18887911	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtcactgccacaggactgacGcatcacatcttggcagctgg	9	8	11	13	1	3	1	2	1	1	0	3	2	3	2	1	3	2	3	1	3	0	1	rs566582553		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:18887911G>A	ENST00000380548.4	+	24	4671	c.4332G>A	c.(4330-4332)acG>acA	p.T1444T	ADAMTSL1_ENST00000380545.5_Silent_p.T145T	NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1	1444	Ig-like C2-type 4.					proteinaceous extracellular matrix (GO:0005578)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		CAGGACTGACGCATCACATCT	0.532													G|||	1	0.000199681	8e-04	0	5008	,	,		20950	0		0	False		,,,				2504	0					ENST00000380548.4																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42						c.(4330-4332)acG>acA		ADAMTS-like 1							88	85	86					9																	18887911		2037	4181	6218	SO:0001819	synonymous_variant	92949					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding	g.chr9:18887911G>A	AF176313	CCDS6485.1, CCDS47954.1	9p21.3	2013-01-11			ENSG00000178031	ENSG00000178031		"Immunoglobulin superfamily / I-set domain containing"	14632	protein-coding gene	gene with protein product	"punctin"	609198	"chromosome 9 open reading frame 94"	C9orf94		9628581, 11805097	Standard	NM_001040272		Approved	ADAMTSR1, FLJ35283	uc003zne.4	Q8N6G6	OTTHUMG00000019604	ENST00000380548.4:c.4332G>A	9.37:g.18887911G>A						ADAMTSL1_ENST00000380545.5_Silent_p.T145T	p.T1444T	NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN		GBM - Glioblastoma multiforme(50;1.29e-17)	24	4671	+			1444			Ig-like C2-type 4.		A6PVN1|A8K7E1|Q496M6|Q496M8|Q5T708|Q5VZT8|Q8NAI9|Q96RW4|Q9BXY3	Silent	SNP	ENST00000380548.4	37	c.4332G>A	CCDS47954.1																																																																																				0.532	ADAMTSL1-012	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401206.1			14	20	0	0	0	1	0	14	20					A	18887911	G	A	18887911	2	1	435	1	0	0	0	0	0	0	0	1	274	1074	38	1		1	ADAMTSL1	9	18887911	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	205985	18887911	122325520	4228	25153											
FAM154A	158297	broad.mit.edu	37	chr9	18928482	18928482	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaagagccttcaaagcgaccGcacttcttaatctgaagtgc	12	9	9	11	2	3	2	1	1	2	1	3	4	3	2	2	0	3	1	2	0	4	3	rs377104678		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:18928482G>A	ENST00000380534.4	-	4	1272	c.993C>T	c.(991-993)tgC>tgT	p.C331C	FAM154A_ENST00000542071.1_Silent_p.C139C|FAM154A_ENST00000380530.1_3'UTR	NM_153707.2	NP_714918.2	Q8IYX7	F154A_HUMAN	family with sequence similarity 154, member A	331								p.C331C(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(1)|skin(1)	26				GBM - Glioblastoma multiforme(50;6.53e-16)		CAAAGCGACCGCACTTCTTAA	0.562																																						ENST00000380534.4																			1	Substitution - coding silent(1)	p.C331C(1)	lung(1)	breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(1)|skin(1)	26						c.(991-993)tgC>tgT		family with sequence similarity 154, member A							83	74	77					9																	18928482		2203	4300	6503	SO:0001819	synonymous_variant	158297							g.chr9:18928482G>A	BC033489	CCDS6487.1, CCDS75819.1, CCDS75820.1	9p22.1	2012-03-23	2008-02-21	2008-02-21	ENSG00000155875	ENSG00000155875			28566	protein-coding gene	gene with protein product			"chromosome 9 open reading frame 138"	C9orf138		12477932	Standard	NM_153707		Approved	MGC35182	uc003zni.2	Q8IYX7	OTTHUMG00000019609	ENST00000380534.4:c.993C>T	9.37:g.18928482G>A						FAM154A_ENST00000542071.1_Silent_p.C139C|FAM154A_ENST00000380530.1_3'UTR	p.C331C	NM_153707.2	NP_714918.2	Q8IYX7	F154A_HUMAN		GBM - Glioblastoma multiforme(50;6.53e-16)	4	1272	-			331					Q5VY58	Silent	SNP	ENST00000380534.4	37	c.993C>T	CCDS6487.1																																																																																				0.562	FAM154A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051811.1	NM_153707		15	15	0	0	0	1	0	15	15					A	18928482	G	A	18928482	2	1	435	1	0	0	0	0	0	0	0	1	5463	1079	38	1		1	FAM154A	9	18928482	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	40571	18928482	122284949	4229	25154											
HAUS6	54801	broad.mit.edu	37	chr9	19058263	19058263	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcagagcctcgtatctactGcgaagagcctgtaaattaaa	13	11	8	9	2	2	2	1	0	1	2	3	3	2	2	2	0	4	2	2	0	7	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:19058263G>A	ENST00000380502.3	-	16	2969	c.2502C>T	c.(2500-2502)cgC>cgT	p.R834R	HAUS6_ENST00000380496.1_Silent_p.R698R	NM_001270890.1|NM_017645.4	NP_001257819.1|NP_060115.3	Q7Z4H7	HAUS6_HUMAN	HAUS augmin-like complex, subunit 6	834					centrosome organization (GO:0051297)|mitotic nuclear division (GO:0007067)|spindle assembly (GO:0051225)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|HAUS complex (GO:0070652)|microtubule (GO:0005874)				autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						CGTATCTACTGCGAAGAGCCT	0.448																																						ENST00000380502.3																			0				autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(2500-2502)cgC>cgT		HAUS augmin-like complex, subunit 6							108	110	109					9																	19058263		2203	4300	6503	SO:0001819	synonymous_variant	54801				cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|nucleus|spindle		g.chr9:19058263G>A	AL832495	CCDS6489.1	9p22.1	2011-10-24	2009-04-20	2009-04-20	ENSG00000147874	ENSG00000147874		"HAUS augmin-like complex subunits"	25948	protein-coding gene	gene with protein product		613433	"family with sequence similarity 29, member A"	FAM29A		10997877, 19427217	Standard	NM_001270890		Approved	FLJ20060, KIAA1574, dgt6	uc003znk.4	Q7Z4H7	OTTHUMG00000019622	ENST00000380502.3:c.2502C>T	9.37:g.19058263G>A						HAUS6_ENST00000380496.1_Silent_p.R698R	p.R834R	NM_017645.3	NP_060115.3	Q7Z4H7	HAUS6_HUMAN			16	2969	-			834					B3KPK4|B4DX82|Q05CG1|Q14CB6|Q14CD9|Q2TA91|Q6IQ10|Q6NZX5|Q8IZQ4|Q96FN0|Q9H950|Q9H998|Q9HCJ8|Q9NXT8	Silent	SNP	ENST00000380502.3	37	c.2502C>T	CCDS6489.1																																																																																				0.448	HAUS6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051825.1	NM_017645		43	91	0	0	0	1	0	43	91					A	19058263	G	A	19058263	2	1	435	1	0	0	0	0	0	0	0	1	6970	1306	46	3		3	HAUS6	9	19058263	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	129781	19058263	122155168	4230	25155											
PLIN2	123	broad.mit.edu	37	chr9	19116297	19116297	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctggctgctcttgtccatCtctgcaccttggtcctgagc	3	14	9	15	0	2	1	0	1	2	0	6	1	5	1	4	2	3	3	4	2	0	2	rs373558876		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:19116297C>A	ENST00000276914.2	-	8	1442	c.1263G>T	c.(1261-1263)gaG>gaT	p.E421D	PLIN2_ENST00000411567.1_Missense_Mutation_p.E340D	NM_001122.3	NP_001113.2	Q99541	PLIN2_HUMAN	perilipin 2	421					cellular lipid metabolic process (GO:0044255)|lipid storage (GO:0019915)|long-chain fatty acid transport (GO:0015909)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|lipid particle (GO:0005811)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	19						TCTTGTCCATCTCTGCACCTT	0.498																																						ENST00000276914.2																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	19						c.(1261-1263)gaG>gaT		perilipin 2							90	84	86					9																	19116297		2203	4300	6503	SO:0001583	missense	123				cellular lipid metabolic process	endoplasmic reticulum|extracellular region|lipid particle		g.chr9:19116297C>A	X97324	CCDS6490.1	9p22.1	2009-08-12	2009-08-12	2009-08-12	ENSG00000147872	ENSG00000147872		"Perilipins"	248	protein-coding gene	gene with protein product	"adipophilin"	103195	"adipose differentiation-related protein"	ADFP		9003395, 19638644	Standard	NM_001122		Approved	ADRP	uc003zno.3	Q99541	OTTHUMG00000019624	ENST00000276914.2:c.1263G>T	9.37:g.19116297C>A	ENSP00000276914:p.Glu421Asp					PLIN2_ENST00000411567.1_Missense_Mutation_p.E340D	p.E421D	NM_001122.3	NP_001113.2	Q99541	PLIN2_HUMAN			8	1442	-			421					Q9BSC3	Missense_Mutation	SNP	ENST00000276914.2	37	c.1263G>T	CCDS6490.1	.	.	.	.	.	.	.	.	.	.	C	13.08	2.130237	0.37630	.	.	ENSG00000147872	ENST00000411567;ENST00000276914	T;T	0.05786	3.39;3.85	4.82	3.38	0.38709	.	2.135900	0.01843	N	0.035453	T	0.06188	0.0160	N	0.14661	0.345	0.09310	N	1	B	0.06786	0.001	B	0.09377	0.004	T	0.41431	-0.9509	10	0.31617	T	0.26	.	10.9256	0.47189	0.0:0.8698:0.0:0.1302	.	421	Q99541	PLIN2_HUMAN	D	340;421	ENSP00000415270:E340D;ENSP00000276914:E421D	ENSP00000276914:E421D	E	-	3	2	PLIN2	19106297	0.000000	0.05858	0.006000	0.13384	0.150000	0.21749	0.561000	0.23515	0.586000	0.29626	0.650000	0.86243	GAG		0.498	PLIN2-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051835.1	NM_001122		27	47	1	0	5.91797e-21	1	6.56533e-21	27	47					A	19116297	C	A	19116297	3	1	435	1	0	0	0	0	1	0	0	0	12090	912	32	5	54	5	PLIN2	9	19116297	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	58034	19116297	122097134	4231	25156											
DENND4C	55667	broad.mit.edu	37	chr9	19358036	19358036	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgcctaatagtttatcaaagCgaaatgtgtctttgactcga	12	14	8	7	2	2	1	1	1	1	0	3	3	2	1	1	0	2	1	1	0	5	5	rs143290383		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:19358036C>T	ENST00000380432.2	+	23	4216	c.4183C>T	c.(4183-4185)Cga>Tga	p.R1395*	DENND4C_ENST00000602925.1_Nonsense_Mutation_p.R1631*|DENND4C_ENST00000434457.2_Nonsense_Mutation_p.R1680*			Q5VZ89	DEN4C_HUMAN	DENN/MADD domain containing 4C	1395					cellular response to insulin stimulus (GO:0032869)|positive regulation of Rab GTPase activity (GO:0032851)|protein localization to plasma membrane (GO:0072659)|protein transport (GO:0015031)	cytosol (GO:0005829)|insulin-responsive compartment (GO:0032593)|plasma membrane (GO:0005886)|retromer complex (GO:0030904)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(1)|endometrium(8)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						TTTATCAAAGCGAAATGTGTC	0.383																																						ENST00000307015.9																			0				breast(1)|endometrium(8)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						c.(2602-2604)Cga>Tga		DENN/MADD domain containing 4C		C	stop/ARG	0,4406		0,0,2203	78	72	74		4183	3.7	1	9	dbSNP_134	74	1,8599	1.2+/-3.3	0,1,4299	no	stop-gained	DENND4C	NM_017925.4		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		1395/1674	19358036	1,13005	2203	4300	6503	SO:0001587	stop_gained	55667					integral to membrane		g.chr9:19358036C>T	AK000693	CCDS6491.2, CCDS6491.3	9p22.1	2012-10-03	2006-01-27	2006-01-27	ENSG00000137145	ENSG00000137145		"DENN/MADD domain containing"	26079	protein-coding gene	gene with protein product			"chromosome 9 open reading frame 55B", "chromosome 9 open reading frame 55"	C9orf55B, C9orf55		12906859	Standard	NM_017925		Approved	FLJ20686, bA513M16.3	uc031tcw.1	Q5VZ89	OTTHUMG00000019627	ENST00000380432.2:c.4183C>T	9.37:g.19358036C>T	ENSP00000369797:p.Arg1395*					DENND4C_ENST00000380432.2_Nonsense_Mutation_p.R1395*|DENND4C_ENST00000434457.2_Nonsense_Mutation_p.R1680*|DENND4C_ENST00000540671.1_Nonsense_Mutation_p.R725*|DENND4C_ENST00000602925.1_Nonsense_Mutation_p.R1631*	p.R868*			Q5VZ89	DEN4C_HUMAN			24	4354	+			1395					A2A3R1|A2A3R2|A2A3R3|A2A3R9|Q6AI48|Q6ZUB3|Q8NCY7|Q9H6N4|Q9NUT1|Q9NWA5|Q9NWT3	Nonsense_Mutation	SNP	ENST00000380432.2	37	c.2602C>T		.	.	.	.	.	.	.	.	.	.	C	36	5.780288	0.96929	0.0	1.16E-4	ENSG00000137145	ENST00000380437;ENST00000307015;ENST00000453857;ENST00000540671;ENST00000380432;ENST00000380427;ENST00000361024	.	.	.	5.67	3.74	0.42951	.	1.028080	0.07660	N	0.933402	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07990	T	0.79	-0.8068	14.5453	0.68027	0.4255:0.5745:0.0:0.0	.	.	.	.	X	1395;868;577;725;868;577;392	.	ENSP00000305795:R868X	R	+	1	2	DENND4C	19348036	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	2.566000	0.45948	0.770000	0.33336	0.585000	0.79938	CGA		0.383	DENND4C-201	KNOWN	basic	protein_coding	protein_coding		NM_017925		16	33	0	0	0	1	0	16	33					T	19358036	C	T	19358036	4	4	435	1	0	0	0	0	0	1	0	0	4435	760	27	1	4273	1	DENND4C	9	19358036	Nonsense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	241739	19358036	121855395	4232	25157											
RPS6	6194	broad.mit.edu	37	chr9	19376346	19376346	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctcgcagagaggaaagtctgCgtctcttcgcaatttgttcc	8	12	10	11	3	2	1	0	0	2	1	6	3	3	2	1	1	1	3	1	1	2	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:19376346C>T	ENST00000380394.4	-	6	753	c.695G>A	c.(694-696)cGc>cAc	p.R232H	RPS6_ENST00000315377.4_Missense_Mutation_p.R201H|RPS6_ENST00000498815.1_5'UTR|RPS6_ENST00000380384.1_Missense_Mutation_p.R201H|RP11-513M16.8_ENST00000609982.1_RNA	NM_001010.2	NP_001001.2	P62753	RS6_HUMAN	ribosomal protein S6	232					activation-induced cell death of T cells (GO:0006924)|cellular protein metabolic process (GO:0044267)|erythrocyte development (GO:0048821)|G1/S transition of mitotic cell cycle (GO:0000082)|gastrulation (GO:0007369)|gene expression (GO:0010467)|glucose homeostasis (GO:0042593)|insulin receptor signaling pathway (GO:0008286)|mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|oogenesis stage (GO:0022605)|placenta development (GO:0001890)|positive regulation of apoptotic process (GO:0043065)|ribosomal small subunit assembly (GO:0000028)|ribosomal small subunit biogenesis (GO:0042274)|RNA metabolic process (GO:0016070)|rRNA processing (GO:0006364)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|T cell differentiation in thymus (GO:0033077)|T cell proliferation involved in immune response (GO:0002309)|TOR signaling (GO:0031929)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cell body (GO:0044297)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|cytosolic small ribosomal subunit (GO:0022627)|dendrite (GO:0030425)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|polysome (GO:0005844)|ribonucleoprotein complex (GO:0030529)|small ribosomal subunit (GO:0015935)	poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|structural constituent of ribosome (GO:0003735)	p.R232H(1)		endometrium(3)|lung(2)|ovary(1)|urinary_tract(1)	7		Colorectal(97;3.46e-05)|Myeloproliferative disorder(762;0.0255)		Lung(42;0.161)|LUSC - Lung squamous cell carcinoma(42;0.234)		GGAAAGTCTGCGTCTCTTCGC	0.398																																						ENST00000380394.4																			1	Substitution - Missense(1)	p.R232H(1)	endometrium(1)	endometrium(3)|lung(2)|ovary(1)|urinary_tract(1)	7						c.(694-696)cGc>cAc		ribosomal protein S6							65	67	66					9																	19376346		2203	4300	6503	SO:0001583	missense	6194				endocrine pancreas development|glucose homeostasis|insulin receptor signaling pathway|positive regulation of apoptosis|rRNA processing|TOR signaling cascade|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit|nucleolus	protein binding	g.chr9:19376346C>T		CCDS6492.1	9p21	2011-04-05			ENSG00000137154	ENSG00000137154		"S ribosomal proteins"	10429	protein-coding gene	gene with protein product	"40S ribosomal protein S6", "phosphoprotein NP33"	180460				1577483	Standard	NM_001010		Approved	S6	uc003znv.1	P62753	OTTHUMG00000019642	ENST00000380394.4:c.695G>A	9.37:g.19376346C>T	ENSP00000369757:p.Arg232His					RPS6_ENST00000498815.1_5'UTR|RPS6_ENST00000380384.1_Missense_Mutation_p.R201H|RPS6_ENST00000315377.4_Missense_Mutation_p.R201H	p.R232H	NM_001010.2	NP_001001.2	P62753	RS6_HUMAN		Lung(42;0.161)|LUSC - Lung squamous cell carcinoma(42;0.234)	6	753	-		Colorectal(97;3.46e-05)|Myeloproliferative disorder(762;0.0255)	232					P08227|P10660|Q4VBY7|Q8N6Z7	Missense_Mutation	SNP	ENST00000380394.4	37	c.695G>A	CCDS6492.1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.283597	0.80803	.	.	ENSG00000137154	ENST00000380394;ENST00000380384;ENST00000315377	T;T;T	0.51071	0.73;0.72;0.72	5.08	5.08	0.68730	.	0.052492	0.85682	D	0.000000	T	0.54447	0.1859	M	0.66939	2.045	0.80722	D	1	D	0.56521	0.976	P	0.46629	0.522	T	0.57670	-0.7771	9	.	.	.	0.0627	18.8394	0.92176	0.0:1.0:0.0:0.0	.	232	P62753	RS6_HUMAN	H	232;201;201	ENSP00000369757:R232H;ENSP00000369745:R201H;ENSP00000369743:R201H	.	R	-	2	0	RPS6	19366346	1.000000	0.71417	0.986000	0.45419	0.949000	0.60115	7.755000	0.85180	2.498000	0.84270	0.655000	0.94253	CGC		0.398	RPS6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051858.1	NM_001010		9	110	0	0	0	1	0	9	110					T	19376346	C	T	19376346	3	4	435	1	0	0	0	0	1	0	0	0	13649	768	27	1	58	1	RPS6	9	19376346	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	18310	19376346	121837085	4233	25158											
KLHL9	55958	broad.mit.edu	37	chr9	21334742	21334742	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctattctaagctgatcaaaGccttgcaataccaccgaact	13	11	5	12	1	3	1	1	1	2	0	3	2	3	1	3	0	5	2	3	0	6	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:21334742G>A	ENST00000359039.4	-	1	637	c.117C>T	c.(115-117)ggC>ggT	p.G39G	KLHL9_ENST00000537938.1_Intron			Q9P2J3	KLHL9_HUMAN	kelch-like family member 9	39					cytokinesis (GO:0000910)|mitotic nuclear division (GO:0007067)|protein ubiquitination (GO:0016567)	Cul3-RING ubiquitin ligase complex (GO:0031463)|midbody (GO:0030496)				endometrium(9)|large_intestine(7)|lung(10)|ovary(4)|skin(2)	32				Lung(24;8.52e-27)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.118)		GCTGATCAAAGCCTTGCAATA	0.483																																						ENST00000359039.4																			0				endometrium(9)|large_intestine(7)|lung(10)|ovary(4)|skin(2)	32						c.(115-117)ggC>ggT		kelch-like family member 9							102	92	95					9																	21334742		2203	4300	6503	SO:0001819	synonymous_variant	55958				cytokinesis|mitosis|protein ubiquitination	Cul3-RING ubiquitin ligase complex|midbody		g.chr9:21334742G>A	AB037775	CCDS6503.1	9p22	2013-01-30	2013-01-30		ENSG00000198642	ENSG00000198642		"Kelch-like", "BTB/POZ domain containing"	18732	protein-coding gene	gene with protein product		611201	"kelch-like 9 (Drosophila)"				Standard	NM_018847		Approved	KIAA1354, FLJ13568	uc003zoy.3	Q9P2J3	OTTHUMG00000019669	ENST00000359039.4:c.117C>T	9.37:g.21334742G>A						KLHL9_ENST00000537938.1_Intron	p.G39G			Q9P2J3	KLHL9_HUMAN		Lung(24;8.52e-27)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.118)	1	637	-			39					Q8TCQ2	Silent	SNP	ENST00000359039.4	37	c.117C>T	CCDS6503.1																																																																																				0.483	KLHL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051898.2	NM_018847		33	31	0	0	0	1	0	33	31					A	21334742	G	A	21334742	2	1	435	1	0	0	0	0	0	0	0	1	8396	958	34	3		3	KLHL9	9	21334742	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	1958396	21334742	119878689	4234	25159											
MTAP	4507	broad.mit.edu	37	chr9	21854832	21854832	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttacgcaagtatcgccatggCgacagattatgactgctgga	11	10	11	9	3	0	2	0	1	0	1	1	4	0	3	1	2	2	3	1	2	4	3	rs143080527	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:21854832C>T	ENST00000460874.2	+	6	929	c.704C>T	c.(703-705)gCg>gTg	p.A235V	MTAP_ENST00000580900.1_Missense_Mutation_p.A218V|RP11-145E5.5_ENST00000404796.2_Intron|MTAP_ENST00000380172.4_Missense_Mutation_p.A218V					methylthioadenosine phosphorylase									p.0(1)|p.0?(1)		central_nervous_system(1)|endometrium(2)|kidney(3)|lung(3)|pancreas(1)	10		all_cancers(5;0)|Hepatocellular(5;0.00162)|Colorectal(97;0.173)		GBM - Glioblastoma multiforme(3;0)|Lung(24;2.24e-57)|LUSC - Lung squamous cell carcinoma(38;1.97e-36)|STAD - Stomach adenocarcinoma(4;3.26e-05)|OV - Ovarian serous cystadenocarcinoma(39;0.00931)|COAD - Colon adenocarcinoma(8;0.15)		ATCGCCATGGCGACAGATTAT	0.493													C|||	8	0.00159744	0.0061	0	5008	,	,		19759	0		0	False		,,,				2504	0					ENST00000380172.4																			2	Whole gene deletion(2)	p.0(1)|p.0?(1)	lung(2)	central_nervous_system(1)|endometrium(2)|kidney(3)|lung(3)|pancreas(1)	10						c.(652-654)gCg>gTg		methylthioadenosine phosphorylase	Adenine(DB00173)	C	VAL/ALA	2,4404	4.2+/-10.8	0,2,2201	79	77	77		653	5.3	1	9	dbSNP_134	77	0,8600		0,0,4300	no	missense	MTAP	NM_002451.3	64	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	benign	218/284	21854832	2,13004	2203	4300	6503	SO:0001583	missense	4507				nucleoside metabolic process	cytoplasm	phosphorylase activity|S-methyl-5-thioadenosine phosphorylase activity	g.chr9:21854832C>T	AB062485	CCDS6509.1	9p21	2013-05-29			ENSG00000099810	ENSG00000099810	2.4.2.28		7413	protein-coding gene	gene with protein product	"S-methyl-5'-thioadenosine phosphorylase"	156540				11126361	Standard	NM_002451		Approved	MSAP, c86fus	uc003zph.3	Q13126	OTTHUMG00000019690	ENST00000460874.2:c.704C>T	9.37:g.21854832C>T	ENSP00000461932:p.Ala235Val					MTAP_ENST00000460874.2_Missense_Mutation_p.A235V|MTAP_ENST00000580900.1_Missense_Mutation_p.A218V|RP11-145E5.5_ENST00000404796.2_Intron	p.A218V	NM_002451.3	NP_002442.2	Q13126	MTAP_HUMAN		GBM - Glioblastoma multiforme(3;0)|Lung(24;2.24e-57)|LUSC - Lung squamous cell carcinoma(38;1.97e-36)|STAD - Stomach adenocarcinoma(4;3.26e-05)|OV - Ovarian serous cystadenocarcinoma(39;0.00931)|COAD - Colon adenocarcinoma(8;0.15)	6	859	+		all_cancers(5;0)|Hepatocellular(5;0.00162)|Colorectal(97;0.173)	218	A -> G (in Ref. 2; AAG38871/AAR24607).					Missense_Mutation	SNP	ENST00000460874.2	37	c.653C>T		.	.	.	.	.	.	.	.	.	.	C	16.45	3.128072	0.56721	4.54E-4	0.0	ENSG00000099810	ENST00000380172	T	0.32023	1.47	5.3	5.3	0.74995	Nucleoside phosphorylase domain (1);	0.000000	0.85682	D	0.000000	T	0.18002	0.0432	N	0.02379	-0.575	0.80722	D	1	D;P	0.64830	0.994;0.46	P;B	0.50352	0.638;0.041	T	0.09443	-1.0674	10	0.02654	T	1	-19.4823	17.7411	0.88407	0.0:1.0:0.0:0.0	.	235;218	B4DUC8;Q13126	.;MTAP_HUMAN	V	218	ENSP00000369519:A218V	ENSP00000347923:A50V	A	+	2	0	MTAP	21844832	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.252000	0.78309	2.491000	0.84063	0.655000	0.94253	GCG		0.493	MTAP-003	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000051929.2	NM_002451		18	24	0	0	0	1	0	18	24					T	21854832	C	T	21854832	3	4	435	1	0	0	0	0	1	0	0	0	9911	768	27	1	675	1	MTAP	9	21854832	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	520090	21854832	119358599	4235	25160											
C9orf82	79886	broad.mit.edu	37	chr9	26842623	26842623	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gcatctgcatttatactgagTacatcactatcttccccttt	9	16	4	12	0	3	1	1	1	2	0	4	1	4	1	2	0	3	3	2	0	4	7			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:26842623T>C	ENST00000333916.5	-	6	850	c.762A>G	c.(760-762)gtA>gtG	p.V254V	CAAP1_ENST00000535437.1_Silent_p.V109V|CAAP1_ENST00000520187.1_Missense_Mutation_p.Y109C	NM_001167575.1|NM_024828.3	NP_001161047.1|NP_079104.3	Q9H8G2	CAAP1_HUMAN	caspase activity and apoptosis inhibitor 1	254					apoptotic process (GO:0006915)												TTATACTGAGTACATCACTAT	0.403																																						ENST00000520187.1																			0											c.(325-327)tAc>tGc		caspase activity and apoptosis inhibitor 1							155	155	155					9																	26842623		2203	4300	6503	SO:0001819	synonymous_variant	79886							g.chr9:26842623T>C	BC014658	CCDS6516.1	9p21.2	2012-04-20	2012-04-20	2012-04-20	ENSG00000120159	ENSG00000120159			25834	protein-coding gene	gene with protein product	"conserved anti-apoptotic protein"		"chromosome 9 open reading frame 82"	C9orf82		21980415	Standard	NM_024828		Approved	FLJ13657, CAAP	uc003zqc.3	Q9H8G2	OTTHUMG00000019706	ENST00000333916.5:c.762A>G	9.37:g.26842623T>C						CAAP1_ENST00000535437.1_Silent_p.V109V|CAAP1_ENST00000333916.5_Silent_p.V254V	p.Y109C			Q9H8G2	CI082_HUMAN			2	413	-			0					B4DWT4|D3DRK4|Q5VY32|Q6IPE6|Q96C59	Missense_Mutation	SNP	ENST00000333916.5	37	c.326A>G	CCDS6516.1	.	.	.	.	.	.	.	.	.	.	T	10.53	1.376298	0.24857	.	.	ENSG00000120159	ENST00000520187	.	.	.	5.74	-1.27	0.09347	.	.	.	.	.	T	0.48447	0.1500	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.50550	-0.8815	5	0.87932	D	0	-22.8607	0.7331	0.00960	0.3886:0.1316:0.2207:0.2591	.	.	.	.	C	109	.	ENSP00000427938:Y109C	Y	-	2	0	C9orf82	26832623	0.870000	0.30015	0.989000	0.46669	0.998000	0.95712	-0.192000	0.09587	-0.475000	0.06852	0.459000	0.35465	TAC		0.403	CAAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051954.1	NM_024828		37	53	0	0	0	1	0	37	53					C	26842623	T	C	26842623	2	2	435	1	0	0	0	0	0	0	0	1	2499	1625	57	4		4	C9orf82	9	26842623	Silent	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	4987791	26842623	114370808	4236	25161											
PLAA	9373	broad.mit.edu	37	chr9	26907936	26907936	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtatcttctcaagaagtatcAagtcatcctcagttaacttc	12	14	5	10	0	5	1	4	0	2	1	8	1	6	1	1	0	1	3	1	0	6	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:26907936A>G	ENST00000397292.3	-	13	2135	c.1718T>C	c.(1717-1719)tTg>tCg	p.L573S	PLAA_ENST00000520884.1_Missense_Mutation_p.L573S	NM_001031689.2	NP_001026859.1	Q9Y263	PLAP_HUMAN	phospholipase A2-activating protein	573	PUL. {ECO:0000255|PROSITE- ProRule:PRU00729}.				inflammatory response (GO:0006954)|phospholipid metabolic process (GO:0006644)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)	phospholipase A2 activator activity (GO:0016005)			breast(1)|endometrium(7)|kidney(2)|large_intestine(3)|lung(3)|prostate(1)	17		all_neural(3;3.53e-10)|Glioma(3;2.71e-09)		Lung(218;1.32e-05)|LUSC - Lung squamous cell carcinoma(38;0.00011)		AAGAAGTATCAAGTCATCCTC	0.363																																					Melanoma(175;2670 2735 14091 35526)	ENST00000397292.3																			0				breast(1)|endometrium(7)|kidney(2)|large_intestine(3)|lung(3)|prostate(1)	17						c.(1717-1719)tTg>tCg		phospholipase A2-activating protein							123	117	119					9																	26907936		2203	4300	6503	SO:0001583	missense	9373				phospholipid metabolic process|signal transduction		phospholipase A2 activator activity	g.chr9:26907936A>G	AF083395	CCDS35000.1	9p21	2013-01-10			ENSG00000137055	ENSG00000137055		"WD repeat domain containing"	9043	protein-coding gene	gene with protein product	"DOA1 homolog (S. cerevisiae)"	603873				9931468, 10644453	Standard	NM_001031689		Approved	PLAP, PLA2P, FLJ11281, FLJ12699, DOA1	uc003zqd.3	Q9Y263	OTTHUMG00000019708	ENST00000397292.3:c.1718T>C	9.37:g.26907936A>G	ENSP00000380460:p.Leu573Ser					PLAA_ENST00000520884.1_Missense_Mutation_p.L573S	p.L573S	NM_001031689.2	NP_001026859.1	Q9Y263	PLAP_HUMAN		Lung(218;1.32e-05)|LUSC - Lung squamous cell carcinoma(38;0.00011)	13	2135	-		all_neural(3;3.53e-10)|Glioma(3;2.71e-09)	573			PUL.		Q53EU5|Q5VY33|Q9NUL8|Q9NVE9|Q9UF53|Q9Y5L1	Missense_Mutation	SNP	ENST00000397292.3	37	c.1718T>C	CCDS35000.1	.	.	.	.	.	.	.	.	.	.	A	23.7	4.441958	0.83993	.	.	ENSG00000137055	ENST00000397292;ENST00000520884	T;T	0.57436	0.83;0.4	5.5	5.5	0.81552	PUL (2);	0.074488	0.56097	D	0.000034	T	0.69860	0.3158	M	0.62723	1.935	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.993;0.996	T	0.71006	-0.4717	10	0.49607	T	0.09	-5.5943	15.6182	0.76784	1.0:0.0:0.0:0.0	.	573;573	E5RIM3;Q9Y263	.;PLAP_HUMAN	S	573	ENSP00000380460:L573S;ENSP00000429372:L573S	ENSP00000380460:L573S	L	-	2	0	PLAA	26897936	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.071000	0.89494	2.101000	0.63845	0.528000	0.53228	TTG		0.363	PLAA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051958.2	NM_001031689		37	40	0	0	0	1	0	37	40					G	26907936	A	G	26907936	3	3	435	1	0	0	0	0	1	0	0	0	12011	131	5	4	677	4	PLAA	9	26907936	Missense_Mutation	SNP	A	TCGA-XK-AAIW-01A-11D-A41K-08	65313	26907936	114305495	4237	25162											
PLAA	9373	broad.mit.edu	37	chr9	26923257	26923257	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agttttagaatcaatggttgCgtgagacagttctttttcaa	11	16	9	5	1	3	2	2	1	1	2	3	3	3	2	0	1	1	3	0	1	4	6	rs376535885		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:26923257C>T	ENST00000397292.3	-	7	1375	c.958G>A	c.(958-960)Gca>Aca	p.A320T	PLAA_ENST00000520884.1_Missense_Mutation_p.A320T	NM_001031689.2	NP_001026859.1	Q9Y263	PLAP_HUMAN	phospholipase A2-activating protein	320					inflammatory response (GO:0006954)|phospholipid metabolic process (GO:0006644)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)	phospholipase A2 activator activity (GO:0016005)			breast(1)|endometrium(7)|kidney(2)|large_intestine(3)|lung(3)|prostate(1)	17		all_neural(3;3.53e-10)|Glioma(3;2.71e-09)		Lung(218;1.32e-05)|LUSC - Lung squamous cell carcinoma(38;0.00011)		TCAATGGTTGCGTGAGACAGT	0.398																																					Melanoma(175;2670 2735 14091 35526)	ENST00000397292.3																			0				breast(1)|endometrium(7)|kidney(2)|large_intestine(3)|lung(3)|prostate(1)	17						c.(958-960)Gca>Aca		phospholipase A2-activating protein		C	THR/ALA	0,4406		0,0,2203	189	170	177		958	4	1	9		177	1,8599	1.2+/-3.3	0,1,4299	no	missense	PLAA	NM_001031689.2	58	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	320/796	26923257	1,13005	2203	4300	6503	SO:0001583	missense	9373				phospholipid metabolic process|signal transduction		phospholipase A2 activator activity	g.chr9:26923257C>T	AF083395	CCDS35000.1	9p21	2013-01-10			ENSG00000137055	ENSG00000137055		"WD repeat domain containing"	9043	protein-coding gene	gene with protein product	"DOA1 homolog (S. cerevisiae)"	603873				9931468, 10644453	Standard	NM_001031689		Approved	PLAP, PLA2P, FLJ11281, FLJ12699, DOA1	uc003zqd.3	Q9Y263	OTTHUMG00000019708	ENST00000397292.3:c.958G>A	9.37:g.26923257C>T	ENSP00000380460:p.Ala320Thr					PLAA_ENST00000520884.1_Missense_Mutation_p.A320T	p.A320T	NM_001031689.2	NP_001026859.1	Q9Y263	PLAP_HUMAN		Lung(218;1.32e-05)|LUSC - Lung squamous cell carcinoma(38;0.00011)	7	1375	-		all_neural(3;3.53e-10)|Glioma(3;2.71e-09)	320					Q53EU5|Q5VY33|Q9NUL8|Q9NVE9|Q9UF53|Q9Y5L1	Missense_Mutation	SNP	ENST00000397292.3	37	c.958G>A	CCDS35000.1	.	.	.	.	.	.	.	.	.	.	C	7.961	0.746966	0.15710	0.0	1.16E-4	ENSG00000137055	ENST00000397292;ENST00000520884	T;T	0.56444	0.46;0.63	4.86	3.97	0.46021	.	0.059063	0.64402	D	0.000001	T	0.35770	0.0943	N	0.20685	0.6	0.80722	D	1	B;B	0.25312	0.123;0.074	B;B	0.17098	0.017;0.012	T	0.10451	-1.0629	10	0.23891	T	0.37	-13.2559	13.6616	0.62370	0.0:0.9244:0.0:0.0756	.	320;320	E5RIM3;Q9Y263	.;PLAP_HUMAN	T	320	ENSP00000380460:A320T;ENSP00000429372:A320T	ENSP00000380460:A320T	A	-	1	0	PLAA	26913257	0.960000	0.32886	0.999000	0.59377	0.824000	0.46624	1.891000	0.39738	1.184000	0.42957	-0.119000	0.15052	GCA		0.398	PLAA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051958.2	NM_001031689		11	121	0	0	0	1	0	11	121					T	26923257	C	T	26923257	3	4	435	1	0	0	0	0	1	0	0	0	12011	768	27	1	1461	1	PLAA	9	26923257	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	15321	26923257	114290174	4238	25163											
TEK	7010	broad.mit.edu	37	chr9	27206684	27206684	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagtgcttgactggaatgaCatcaaatttcaagatgtgat	13	12	9	7	0	2	4	2	3	0	1	2	5	2	5	1	1	1	1	1	1	3	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:27206684C>T	ENST00000380036.4	+	15	2911	c.2469C>T	c.(2467-2469)gaC>gaT	p.D823D	TEK_ENST00000519097.1_Silent_p.D675D|TEK_ENST00000406359.4_Silent_p.D780D	NM_000459.3	NP_000450	Q02763	TIE2_HUMAN	TEK tyrosine kinase, endothelial	823					angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cell-cell signaling (GO:0007267)|cell-matrix adhesion (GO:0007160)|definitive hemopoiesis (GO:0060216)|endochondral ossification (GO:0001958)|endothelial cell proliferation (GO:0001935)|glomerulus vasculature development (GO:0072012)|heart development (GO:0007507)|heart trabecula formation (GO:0060347)|intracellular signal transduction (GO:0035556)|leukocyte migration (GO:0050900)|negative regulation of angiogenesis (GO:0016525)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of inflammatory response (GO:0050728)|organ regeneration (GO:0031100)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|protein autophosphorylation (GO:0046777)|protein oligomerization (GO:0051259)|regulation of endothelial cell apoptotic process (GO:2000351)|regulation of establishment or maintenance of cell polarity (GO:0032878)|regulation of vascular permeability (GO:0043114)|response to cAMP (GO:0051591)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|response to peptide hormone (GO:0043434)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|sprouting angiogenesis (GO:0002040)|substrate adhesion-dependent cell spreading (GO:0034446)|Tie signaling pathway (GO:0048014)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)|receptor activity (GO:0004872)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(3)|central_nervous_system(3)|kidney(1)|lung(2)|ovary(3)|skin(3)	15		all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255)		Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027)	Ponatinib(DB08901)|Regorafenib(DB08896)|Vandetanib(DB05294)	ACTGGAATGACATCAAATTTC	0.458																																						ENST00000380036.4																			0				breast(3)|central_nervous_system(3)|kidney(1)|lung(2)|ovary(3)|skin(3)	15						c.(2467-2469)gaC>gaT		TEK tyrosine kinase, endothelial							83	77	79					9																	27206684		2203	4300	6503	SO:0001819	synonymous_variant	7010				angiogenesis|blood coagulation|cell-cell signaling|leukocyte migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase B signaling cascade|protein oligomerization|transmembrane receptor protein tyrosine kinase signaling pathway	apical plasma membrane|basolateral plasma membrane|cell surface|integral to plasma membrane|membrane raft|microvillus	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity	g.chr9:27206684C>T	L06139	CCDS6519.1, CCDS75825.1	9p21	2013-02-11	2008-07-31		ENSG00000120156	ENSG00000120156		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	11724	protein-coding gene	gene with protein product		600221	"venous malformations, multiple cutaneous and mucosal"	VMCM		1312667, 7833915	Standard	XM_005251561		Approved	TIE2, TIE-2, VMCM1, CD202b	uc003zqi.4	Q02763	OTTHUMG00000019712	ENST00000380036.4:c.2469C>T	9.37:g.27206684C>T						TEK_ENST00000406359.4_Silent_p.D780D|TEK_ENST00000519097.1_Silent_p.D675D	p.D823D	NM_000459.3	NP_000450.2	Q02763	TIE2_HUMAN		Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027)	15	2911	+		all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255)	823					A8K6W0|B4DH20|B4DHD3|D3DRK5|E7EWI2|Q5TCU2|Q8IV34	Silent	SNP	ENST00000380036.4	37	c.2469C>T	CCDS6519.1																																																																																				0.458	TEK-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051965.3			9	9	0	0	0	1	0	9	9					T	27206684	C	T	27206684	2	4	435	1	0	0	0	0	0	0	0	1	15748	477	17	3		3	TEK	9	27206684	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	283427	27206684	114006747	4239	25164											
ACO1	48	broad.mit.edu	37	chr9	32440537	32440537	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gttctggctggcaaagagtaCggtgcaggcagctcccgaga	9	7	15	10	2	1	2	0	0	1	2	2	3	2	2	1	4	3	7	1	4	2	2	rs183113769		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:32440537C>T	ENST00000309951.6	+	19	2460	c.2322C>T	c.(2320-2322)taC>taT	p.Y774Y	ACO1_ENST00000379923.1_Silent_p.Y774Y|ACO1_ENST00000541043.1_Silent_p.Y675Y	NM_002197.2	NP_002188.1	P21399	ACOC_HUMAN	aconitase 1, soluble	774					cellular iron ion homeostasis (GO:0006879)|citrate metabolic process (GO:0006101)|intestinal absorption (GO:0050892)|post-embryonic development (GO:0009791)|regulation of translation (GO:0006417)|response to iron(II) ion (GO:0010040)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)	4 iron, 4 sulfur cluster binding (GO:0051539)|aconitate hydratase activity (GO:0003994)|iron-responsive element binding (GO:0030350)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)			breast(1)|endometrium(7)|kidney(5)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	30			LUSC - Lung squamous cell carcinoma(29;0.00813)	GBM - Glioblastoma multiforme(74;3.94e-06)		GCAAAGAGTACGGTGCAGGCA	0.562													C|||	1	0.000199681	0	0.0014	5008	,	,		16098	0		0	False		,,,				2504	0					ENST00000379923.1																			0				breast(1)|endometrium(7)|kidney(5)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	30						c.(2320-2322)taC>taT		aconitase 1, soluble		C		0,4406		0,0,2203	71	65	67		2322	-11.3	0.2	9		67	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	ACO1	NM_002197.2		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		774/890	32440537	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	48				citrate metabolic process|response to iron(II) ion|tricarboxylic acid cycle	cytosol|endoplasmic reticulum|Golgi apparatus	4 iron, 4 sulfur cluster binding|aconitate hydratase activity|citrate hydro-lyase (cis-aconitate-forming) activity|iron-responsive element binding|isocitrate hydro-lyase (cis-aconitate-forming) activity|metal ion binding|protein binding	g.chr9:32440537C>T	M58510	CCDS6525.1	9p21.1	2013-05-21			ENSG00000122729	ENSG00000122729	4.2.1.3		117	protein-coding gene	gene with protein product	"aconitate hydratase, cytoplasmic"	100880		IREB1		2172968, 2771641	Standard	NM_002197		Approved	IRP1, IREBP	uc003zqw.4	P21399	OTTHUMG00000019740	ENST00000309951.6:c.2322C>T	9.37:g.32440537C>T						ACO1_ENST00000309951.5_Silent_p.Y774Y|ACO1_ENST00000541043.1_Silent_p.Y675Y	p.Y774Y	NM_001278352.1	NP_001265281.1	P21399	ACOC_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.00813)	GBM - Glioblastoma multiforme(74;3.94e-06)	20	2528	+			774					D3DRK7|Q14652|Q5VZA7	Silent	SNP	ENST00000309951.6	37	c.2322C>T	CCDS6525.1																																																																																				0.562	ACO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051998.3	NM_002197		14	28	0	0	0	1	0	14	28					T	32440537	C	T	32440537	2	4	435	1	0	0	0	0	0	0	0	1	146	547	19	1		1	ACO1	9	32440537	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	5233853	32440537	108772894	4240	25165											
DDX58	23586	broad.mit.edu	37	chr9	32457353	32457353	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acttgaaaactgctttggctTgggatgtggtctactcacaa	10	13	10	8	0	2	1	1	1	1	0	2	2	2	2	0	3	3	2	0	3	4	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:32457353T>C	ENST00000379883.2	-	18	2702	c.2545A>G	c.(2545-2547)Aag>Gag	p.K849E	DDX58_ENST00000379868.1_Missense_Mutation_p.K646E|DDX58_ENST00000542096.1_Missense_Mutation_p.K778E|DDX58_ENST00000379882.1_Missense_Mutation_p.K804E	NM_014314.3	NP_055129.2	O95786	DDX58_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 58	849	Interaction with ZC3HAV1.|Repressor domain.				cytoplasmic pattern recognition receptor signaling pathway in response to virus (GO:0039528)|detection of virus (GO:0009597)|innate immune response (GO:0045087)|negative regulation of type I interferon production (GO:0032480)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription factor import into nucleus (GO:0042993)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell migration (GO:0030334)|regulation of type III interferon production (GO:0034344)|response to exogenous dsRNA (GO:0043330)|response to virus (GO:0009615)|RIG-I signaling pathway (GO:0039529)|viral process (GO:0016032)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)	ATP binding (GO:0005524)|double-stranded DNA binding (GO:0003690)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|identical protein binding (GO:0042802)|single-stranded RNA binding (GO:0003727)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(1)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	27			LUSC - Lung squamous cell carcinoma(29;0.00813)	GBM - Glioblastoma multiforme(74;0.00056)		TGCTTTGGCTTGGGATGTGGT	0.418																																						ENST00000379882.1																			0				autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(1)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	27						c.(2410-2412)Aag>Gag		DEAD (Asp-Glu-Ala-Asp) box polypeptide 58							82	76	78					9																	32457353		2203	4300	6503	SO:0001583	missense	23586				detection of virus|innate immune response|negative regulation of type I interferon production|positive regulation of defense response to virus by host|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter	cytosol	ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|protein binding|zinc ion binding	g.chr9:32457353T>C	AF038963	CCDS6526.1	9p12	2011-08-05			ENSG00000107201	ENSG00000107201		"DEAD-boxes"	19102	protein-coding gene	gene with protein product	"RNA helicase RIG-I", "retinoic acid inducible gene I"	609631				21690088	Standard	NM_014314		Approved	RIG-I, FLJ13599, DKFZp434J1111	uc003zra.3	O95786	OTTHUMG00000019746	ENST00000379883.2:c.2545A>G	9.37:g.32457353T>C	ENSP00000369213:p.Lys849Glu					DDX58_ENST00000379868.1_Missense_Mutation_p.K646E|DDX58_ENST00000542096.1_Missense_Mutation_p.K778E|DDX58_ENST00000379883.2_Missense_Mutation_p.K849E	p.K804E			O95786	DDX58_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.00813)	GBM - Glioblastoma multiforme(74;0.00056)	17	2567	-			849			Repressor domain.		A2RU81|Q5HYE1|Q5VYT1|Q9NT04	Missense_Mutation	SNP	ENST00000379883.2	37	c.2410A>G	CCDS6526.1	.	.	.	.	.	.	.	.	.	.	T	13.57	2.277758	0.40294	.	.	ENSG00000107201	ENST00000379882;ENST00000379883;ENST00000379868;ENST00000542096	T;T;T;T	0.50277	0.75;0.75;0.75;0.75	5.83	4.65	0.58169	C-terminal domain of RIG-I (1);	0.496707	0.19966	N	0.102108	T	0.47637	0.1456	M	0.74881	2.28	0.80722	D	1	P;P	0.41420	0.749;0.577	B;B	0.40285	0.325;0.183	T	0.43294	-0.9400	10	0.18276	T	0.48	-2.2306	12.3049	0.54895	0.0:0.0:0.1411:0.8589	.	778;849	B3KWW1;O95786	.;DDX58_HUMAN	E	804;849;646;778	ENSP00000369212:K804E;ENSP00000369213:K849E;ENSP00000369197:K646E;ENSP00000442160:K778E	ENSP00000369197:K646E	K	-	1	0	DDX58	32447353	0.972000	0.33761	0.924000	0.36721	0.293000	0.27360	2.450000	0.44943	2.227000	0.72691	0.528000	0.53228	AAG		0.418	DDX58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052011.1	NM_014314		19	50	0	0	0	1	0	19	50					C	32457353	T	C	32457353	3	2	435	1	0	0	0	0	1	0	0	0	4375	1821	63	4	236	4	DDX58	9	32457353	Missense_Mutation	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	16816	32457353	108756078	4241	25166											
DDX58	23586	broad.mit.edu	37	chr9	32466305	32466305	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	taccttttccctaaatactgCttcgtcccatgtctgaaggc	8	14	6	13	1	1	1	0	1	1	0	4	1	3	1	3	1	3	1	3	1	5	6			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:32466305C>A	ENST00000379883.2	-	16	2477	c.2320G>T	c.(2320-2322)Gca>Tca	p.A774S	DDX58_ENST00000379868.1_Missense_Mutation_p.A571S|DDX58_ENST00000542096.1_Missense_Mutation_p.A703S|DDX58_ENST00000379882.1_Missense_Mutation_p.A729S	NM_014314.3	NP_055129.2	O95786	DDX58_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 58	774	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.|Interaction with ZC3HAV1.|Repressor domain.				cytoplasmic pattern recognition receptor signaling pathway in response to virus (GO:0039528)|detection of virus (GO:0009597)|innate immune response (GO:0045087)|negative regulation of type I interferon production (GO:0032480)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription factor import into nucleus (GO:0042993)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell migration (GO:0030334)|regulation of type III interferon production (GO:0034344)|response to exogenous dsRNA (GO:0043330)|response to virus (GO:0009615)|RIG-I signaling pathway (GO:0039529)|viral process (GO:0016032)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)	ATP binding (GO:0005524)|double-stranded DNA binding (GO:0003690)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|identical protein binding (GO:0042802)|single-stranded RNA binding (GO:0003727)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(1)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	27			LUSC - Lung squamous cell carcinoma(29;0.00813)	GBM - Glioblastoma multiforme(74;0.00056)		CTAAATACTGCTTCGTCCCAT	0.353																																						ENST00000379882.1																			0				autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(1)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	27						c.(2185-2187)Gca>Tca		DEAD (Asp-Glu-Ala-Asp) box polypeptide 58							212	200	204					9																	32466305		2203	4300	6503	SO:0001583	missense	23586				detection of virus|innate immune response|negative regulation of type I interferon production|positive regulation of defense response to virus by host|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter	cytosol	ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|protein binding|zinc ion binding	g.chr9:32466305C>A	AF038963	CCDS6526.1	9p12	2011-08-05			ENSG00000107201	ENSG00000107201		"DEAD-boxes"	19102	protein-coding gene	gene with protein product	"RNA helicase RIG-I", "retinoic acid inducible gene I"	609631				21690088	Standard	NM_014314		Approved	RIG-I, FLJ13599, DKFZp434J1111	uc003zra.3	O95786	OTTHUMG00000019746	ENST00000379883.2:c.2320G>T	9.37:g.32466305C>A	ENSP00000369213:p.Ala774Ser					DDX58_ENST00000379868.1_Missense_Mutation_p.A571S|DDX58_ENST00000542096.1_Missense_Mutation_p.A703S|DDX58_ENST00000379883.2_Missense_Mutation_p.A774S	p.A729S			O95786	DDX58_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.00813)	GBM - Glioblastoma multiforme(74;0.00056)	15	2342	-			774			Helicase C-terminal.		A2RU81|Q5HYE1|Q5VYT1|Q9NT04	Missense_Mutation	SNP	ENST00000379883.2	37	c.2185G>T	CCDS6526.1	.	.	.	.	.	.	.	.	.	.	C	2.734	-0.263667	0.05754	.	.	ENSG00000107201	ENST00000379882;ENST00000379883;ENST00000379868;ENST00000542096	T;T;T;T	0.06142	3.47;3.46;3.35;3.34	5.18	2.31	0.28768	Helicase, C-terminal (1);	0.844519	0.10503	N	0.667069	T	0.07908	0.0198	L	0.57536	1.79	0.40049	D	0.975756	B;B;B	0.12630	0.003;0.006;0.001	B;B;B	0.17979	0.02;0.015;0.003	T	0.17198	-1.0377	10	0.12103	T	0.63	-0.7402	10.197	0.43060	0.0:0.7767:0.0:0.2233	.	729;703;774	O95786-2;B3KWW1;O95786	.;.;DDX58_HUMAN	S	729;774;571;703	ENSP00000369212:A729S;ENSP00000369213:A774S;ENSP00000369197:A571S;ENSP00000442160:A703S	ENSP00000369197:A571S	A	-	1	0	DDX58	32456305	0.432000	0.25554	0.270000	0.24601	0.091000	0.18340	0.728000	0.26013	0.278000	0.22164	0.655000	0.94253	GCA		0.353	DDX58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052011.1	NM_014314		46	73	1	0	4.16331e-43	1	4.68058e-43	46	73					A	32466305	C	A	32466305	3	1	435	1	0	0	0	0	1	0	0	0	4375	797	28	5	469	5	DDX58	9	32466305	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	8952	32466305	108747126	4242	25167											
DDX58	23586	broad.mit.edu	37	chr9	32488832	32488833	+	Frame_Shift_Ins	INS	-	-	T																															cccttttgtccttgtgggaaINSttttttaagatgatgttcac																										TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:32488832_32488833insT	ENST00000379883.2	-	7	1009_1010	c.852_853insA	c.(850-855)aaattcfs	p.F285fs	DDX58_ENST00000379868.1_Frame_Shift_Ins_p.F82fs|DDX58_ENST00000545044.1_Frame_Shift_Ins_p.F82fs|DDX58_ENST00000542096.1_Frame_Shift_Ins_p.F214fs|DDX58_ENST00000379882.1_Frame_Shift_Ins_p.F240fs	NM_014314.3	NP_055129.2	O95786	DDX58_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 58	285	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.|Interaction with ZC3HAV1.				cytoplasmic pattern recognition receptor signaling pathway in response to virus (GO:0039528)|detection of virus (GO:0009597)|innate immune response (GO:0045087)|negative regulation of type I interferon production (GO:0032480)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription factor import into nucleus (GO:0042993)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell migration (GO:0030334)|regulation of type III interferon production (GO:0034344)|response to exogenous dsRNA (GO:0043330)|response to virus (GO:0009615)|RIG-I signaling pathway (GO:0039529)|viral process (GO:0016032)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)	ATP binding (GO:0005524)|double-stranded DNA binding (GO:0003690)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|identical protein binding (GO:0042802)|single-stranded RNA binding (GO:0003727)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(1)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	27			LUSC - Lung squamous cell carcinoma(29;0.00813)	GBM - Glioblastoma multiforme(74;0.00056)		CCTTGTGGGAATTTTTTAAGAT	0.327																																						ENST00000379882.1																			0				autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(1)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	27						c.(715-720)aatcccfs		DEAD (Asp-Glu-Ala-Asp) box polypeptide 58																																				SO:0001589	frameshift_variant	23586				detection of virus|innate immune response|negative regulation of type I interferon production|positive regulation of defense response to virus by host|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter	cytosol	ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|protein binding|zinc ion binding	g.chr9:32488832_32488833insT	AF038963	CCDS6526.1	9p12	2011-08-05			ENSG00000107201	ENSG00000107201		"DEAD-boxes"	19102	protein-coding gene	gene with protein product	"RNA helicase RIG-I", "retinoic acid inducible gene I"	609631				21690088	Standard	NM_014314		Approved	RIG-I, FLJ13599, DKFZp434J1111	uc003zra.3	O95786	OTTHUMG00000019746	ENST00000379883.2:c.853dupA	9.37:g.32488838_32488838dupT	ENSP00000369213:p.Phe285fs					DDX58_ENST00000542096.1_Frame_Shift_Ins_p.NP213fs|DDX58_ENST00000545044.1_Frame_Shift_Ins_p.NP81fs|DDX58_ENST00000379868.1_Frame_Shift_Ins_p.NP81fs|DDX58_ENST00000379883.2_Frame_Shift_Ins_p.NP284fs	p.NP239fs			O95786	DDX58_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.00813)	GBM - Glioblastoma multiforme(74;0.00056)	6	874_875	-			284					A2RU81|Q5HYE1|Q5VYT1|Q9NT04	Frame_Shift_Ins	INS	ENST00000379883.2	37	c.717_718insA	CCDS6526.1																																																																																				0.327	DDX58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052011.1	NM_014314		23	47						23	47	---	---	---	---	T	32488833	-	T	32488832	7	5	435	1	0	1	1	0	0	0	0	0	4375	101	4	0	1972	0	DDX58	9	32488832	Frame_Shift_Ins	INS	-	TCGA-XK-AAIW-01A-11D-A41K-08	22527	32488832	108724599	4243	25168											
DDX58	23586	broad.mit.edu	37	chr9	32491392	32491392	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agtttccatcttatcctcaaGatcttctgtttcaacatctt	9	18	3	11	0	6	1	2	0	4	1	8	1	8	1	2	0	1	2	2	0	3	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:32491392G>A	ENST00000379883.2	-	5	755	c.598C>T	c.(598-600)Ctt>Ttt	p.L200F	DDX58_ENST00000379868.1_5'UTR|DDX58_ENST00000545044.1_5'UTR|DDX58_ENST00000542096.1_Missense_Mutation_p.L129F|DDX58_ENST00000379882.1_Missense_Mutation_p.L155F	NM_014314.3	NP_055129.2	O95786	DDX58_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 58	200					cytoplasmic pattern recognition receptor signaling pathway in response to virus (GO:0039528)|detection of virus (GO:0009597)|innate immune response (GO:0045087)|negative regulation of type I interferon production (GO:0032480)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription factor import into nucleus (GO:0042993)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell migration (GO:0030334)|regulation of type III interferon production (GO:0034344)|response to exogenous dsRNA (GO:0043330)|response to virus (GO:0009615)|RIG-I signaling pathway (GO:0039529)|viral process (GO:0016032)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)	ATP binding (GO:0005524)|double-stranded DNA binding (GO:0003690)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|identical protein binding (GO:0042802)|single-stranded RNA binding (GO:0003727)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(1)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	27			LUSC - Lung squamous cell carcinoma(29;0.00813)	GBM - Glioblastoma multiforme(74;0.00056)		TTATCCTCAAGATCTTCTGTT	0.348																																						ENST00000379882.1																			0				autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(1)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	27						c.(463-465)Ctt>Ttt		DEAD (Asp-Glu-Ala-Asp) box polypeptide 58							92	86	88					9																	32491392		2203	4300	6503	SO:0001583	missense	23586				detection of virus|innate immune response|negative regulation of type I interferon production|positive regulation of defense response to virus by host|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter	cytosol	ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|protein binding|zinc ion binding	g.chr9:32491392G>A	AF038963	CCDS6526.1	9p12	2011-08-05			ENSG00000107201	ENSG00000107201		"DEAD-boxes"	19102	protein-coding gene	gene with protein product	"RNA helicase RIG-I", "retinoic acid inducible gene I"	609631				21690088	Standard	NM_014314		Approved	RIG-I, FLJ13599, DKFZp434J1111	uc003zra.3	O95786	OTTHUMG00000019746	ENST00000379883.2:c.598C>T	9.37:g.32491392G>A	ENSP00000369213:p.Leu200Phe					DDX58_ENST00000379868.1_5'UTR|DDX58_ENST00000542096.1_Missense_Mutation_p.L129F|DDX58_ENST00000379883.2_Missense_Mutation_p.L200F|DDX58_ENST00000545044.1_5'UTR	p.L155F			O95786	DDX58_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.00813)	GBM - Glioblastoma multiforme(74;0.00056)	4	620	-			200			CARD 2.		A2RU81|Q5HYE1|Q5VYT1|Q9NT04	Missense_Mutation	SNP	ENST00000379883.2	37	c.463C>T	CCDS6526.1	.	.	.	.	.	.	.	.	.	.	G	10.77	1.443099	0.25987	.	.	ENSG00000107201	ENST00000379882;ENST00000379883;ENST00000542096;ENST00000542960	T;T;T	0.37235	1.21;1.21;1.21	4.94	0.344	0.16006	.	0.819210	0.10454	N	0.672759	T	0.24736	0.0600	L	0.34521	1.04	0.09310	N	0.999999	P;P;P	0.46706	0.865;0.883;0.788	P;B;B	0.45558	0.485;0.383;0.291	T	0.13308	-1.0514	10	0.15066	T	0.55	-0.5183	3.52	0.07739	0.0981:0.4236:0.3231:0.1552	.	155;129;200	O95786-2;B3KWW1;O95786	.;.;DDX58_HUMAN	F	155;200;129;200	ENSP00000369212:L155F;ENSP00000369213:L200F;ENSP00000442160:L129F	ENSP00000369212:L155F	L	-	1	0	DDX58	32481392	0.000000	0.05858	0.036000	0.18154	0.013000	0.08279	-0.108000	0.10857	0.489000	0.27749	0.650000	0.86243	CTT		0.348	DDX58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052011.1	NM_014314		8	21	0	0	0	1	0	8	21					A	32491392	G	A	32491392	3	1	435	1	0	0	0	0	1	0	0	0	4375	942	33	3	2235	3	DDX58	9	32491392	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	2560	32491392	108722039	4244	25169											
TOPORS	10210	broad.mit.edu	37	chr9	32541790	32541790	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaatccttatcactgtcactGtcaatggtaattacaactgg	12	13	7	9	0	3	0	3	0	0	0	4	1	4	0	1	2	2	1	1	2	6	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:32541790G>A	ENST00000360538.2	-	3	2849	c.2733C>T	c.(2731-2733)gaC>gaT	p.D911D	TOPORS_ENST00000379858.1_Silent_p.D846D	NM_005802.4	NP_005793.2	Q9NS56	TOPRS_HUMAN	topoisomerase I binding, arginine/serine-rich, E3 ubiquitin protein ligase	911	Interaction with UBE2I.				cellular response to DNA damage stimulus (GO:0006974)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|maintenance of protein location in nucleus (GO:0051457)|negative regulation of apoptotic process (GO:0043066)|photoreceptor cell outer segment organization (GO:0035845)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K48-linked ubiquitination (GO:0070936)|protein localization to nucleus (GO:0034504)|protein monoubiquitination (GO:0006513)|protein sumoylation (GO:0016925)|regulation of cell proliferation (GO:0042127)|retina layer formation (GO:0010842)|retinal cone cell development (GO:0046549)|retinal rod cell development (GO:0046548)|transcription, DNA-templated (GO:0006351)|ubiquitin-dependent protein catabolic process (GO:0006511)	centriole (GO:0005814)|ciliary basal body (GO:0036064)|gamma-tubulin complex (GO:0000930)|midbody (GO:0030496)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|photoreceptor connecting cilium (GO:0032391)|PML body (GO:0016605)|spindle pole (GO:0000922)|ubiquitin ligase complex (GO:0000151)	antigen binding (GO:0003823)|DNA binding (GO:0003677)|DNA topoisomerase binding (GO:0044547)|SUMO ligase activity (GO:0019789)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			large_intestine(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.0018)		CACTGTCACTGTCAATGGTAA	0.383																																						ENST00000360538.2																			0				large_intestine(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12						c.(2731-2733)gaC>gaT		topoisomerase I binding, arginine/serine-rich, E3 ubiquitin protein ligase							201	188	192					9																	32541790		2203	4300	6503	SO:0001819	synonymous_variant	10210				DNA damage response, signal transduction resulting in induction of apoptosis|maintenance of protein location in nucleus|proteasomal ubiquitin-dependent protein catabolic process|protein sumoylation|transcription, DNA-dependent	nuclear speck|PML body	antigen binding|DNA binding|DNA topoisomerase I binding|SUMO ligase activity|ubiquitin-protein ligase activity|zinc ion binding	g.chr9:32541790G>A	AF098300	CCDS6527.1, CCDS56566.1	9p21	2013-01-09	2010-09-17		ENSG00000197579	ENSG00000197579		"RING-type (C3HC4) zinc fingers"	21653	protein-coding gene	gene with protein product		609507	"retinitis pigmentosa 31 (autosomal dominant)", "topoisomerase I binding, arginine/serine-rich"	RP31		10352183, 12083797, 17924349	Standard	NM_005802		Approved	TP53BPL, LUN	uc003zrb.3	Q9NS56	OTTHUMG00000019743	ENST00000360538.2:c.2733C>T	9.37:g.32541790G>A						TOPORS_ENST00000379858.1_Silent_p.D846D	p.D911D	NM_005802.4	NP_005793.2	Q9NS56	TOPRS_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.0018)	3	2849	-			911			Interaction with UBE2I.		O43273|Q6P987|Q9NS55|Q9UNR9	Silent	SNP	ENST00000360538.2	37	c.2733C>T	CCDS6527.1																																																																																				0.383	TOPORS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052007.1	NM_005802		50	78	0	0	0	1	0	50	78					A	32541790	G	A	32541790	2	1	435	1	0	0	0	0	0	0	0	1	16367	1368	48	3		3	TOPORS	9	32541790	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	50398	32541790	108671641	4245	25170											
TOPORS	10210	broad.mit.edu	37	chr9	32542457	32542457	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aattatttcttaaataataaCgatctctatttctgctccgt	12	18	3	8	2	3	0	0	0	3	0	5	1	4	0	1	0	2	1	1	0	7	7			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:32542457C>T	ENST00000360538.2	-	3	2182	c.2066G>A	c.(2065-2067)cGt>cAt	p.R689H	TOPORS_ENST00000379858.1_Missense_Mutation_p.R624H	NM_005802.4	NP_005793.2	Q9NS56	TOPRS_HUMAN	topoisomerase I binding, arginine/serine-rich, E3 ubiquitin protein ligase	689	Arg-rich.|Interaction with TOP1.|Interaction with p53/TP53.				cellular response to DNA damage stimulus (GO:0006974)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|maintenance of protein location in nucleus (GO:0051457)|negative regulation of apoptotic process (GO:0043066)|photoreceptor cell outer segment organization (GO:0035845)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K48-linked ubiquitination (GO:0070936)|protein localization to nucleus (GO:0034504)|protein monoubiquitination (GO:0006513)|protein sumoylation (GO:0016925)|regulation of cell proliferation (GO:0042127)|retina layer formation (GO:0010842)|retinal cone cell development (GO:0046549)|retinal rod cell development (GO:0046548)|transcription, DNA-templated (GO:0006351)|ubiquitin-dependent protein catabolic process (GO:0006511)	centriole (GO:0005814)|ciliary basal body (GO:0036064)|gamma-tubulin complex (GO:0000930)|midbody (GO:0030496)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|photoreceptor connecting cilium (GO:0032391)|PML body (GO:0016605)|spindle pole (GO:0000922)|ubiquitin ligase complex (GO:0000151)	antigen binding (GO:0003823)|DNA binding (GO:0003677)|DNA topoisomerase binding (GO:0044547)|SUMO ligase activity (GO:0019789)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			large_intestine(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.0018)		TAAATAATAACGATCTCTATT	0.388																																						ENST00000360538.2																			0				large_intestine(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12						c.(2065-2067)cGt>cAt		topoisomerase I binding, arginine/serine-rich, E3 ubiquitin protein ligase							180	187	185					9																	32542457		2203	4300	6503	SO:0001583	missense	10210				DNA damage response, signal transduction resulting in induction of apoptosis|maintenance of protein location in nucleus|proteasomal ubiquitin-dependent protein catabolic process|protein sumoylation|transcription, DNA-dependent	nuclear speck|PML body	antigen binding|DNA binding|DNA topoisomerase I binding|SUMO ligase activity|ubiquitin-protein ligase activity|zinc ion binding	g.chr9:32542457C>T	AF098300	CCDS6527.1, CCDS56566.1	9p21	2013-01-09	2010-09-17		ENSG00000197579	ENSG00000197579		"RING-type (C3HC4) zinc fingers"	21653	protein-coding gene	gene with protein product		609507	"retinitis pigmentosa 31 (autosomal dominant)", "topoisomerase I binding, arginine/serine-rich"	RP31		10352183, 12083797, 17924349	Standard	NM_005802		Approved	TP53BPL, LUN	uc003zrb.3	Q9NS56	OTTHUMG00000019743	ENST00000360538.2:c.2066G>A	9.37:g.32542457C>T	ENSP00000353735:p.Arg689His					TOPORS_ENST00000379858.1_Missense_Mutation_p.R624H	p.R689H	NM_005802.4	NP_005793.2	Q9NS56	TOPRS_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.0018)	3	2182	-			689			Arg-rich.|Interaction with TOP1.|Interaction with p53/TP53.		O43273|Q6P987|Q9NS55|Q9UNR9	Missense_Mutation	SNP	ENST00000360538.2	37	c.2066G>A	CCDS6527.1	.	.	.	.	.	.	.	.	.	.	C	11.86	1.763566	0.31228	.	.	ENSG00000197579	ENST00000360538;ENST00000379858	T;T	0.16597	2.33;2.37	6.03	3.1	0.35709	.	0.257927	0.28296	N	0.015873	T	0.08846	0.0219	N	0.19112	0.55	0.25320	N	0.989124	B	0.12630	0.006	B	0.04013	0.001	T	0.15321	-1.0441	10	0.38643	T	0.18	-9.7996	3.6577	0.08226	0.1713:0.5446:0.0:0.2841	.	689	Q9NS56	TOPRS_HUMAN	H	689;624	ENSP00000353735:R689H;ENSP00000369187:R624H	ENSP00000353735:R689H	R	-	2	0	TOPORS	32532457	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	1.936000	0.40183	1.564000	0.49628	0.557000	0.71058	CGT		0.388	TOPORS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052007.1	NM_005802		23	99	0	0	0	1	0	23	99					T	32542457	C	T	32542457	3	4	435	1	0	0	0	0	1	0	0	0	16367	536	19	1	1075	1	TOPORS	9	32542457	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	667	32542457	108670974	4246	25171											
TOPORS	10210	broad.mit.edu	37	chr9	32543368	32543368	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	atgactgaagaatcagaatgGctgccttcttcgtatgaagg	12	11	11	7	1	2	5	1	3	1	2	3	5	2	5	1	2	1	2	1	2	5	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:32543368G>A	ENST00000360538.2	-	3	1271	c.1155C>T	c.(1153-1155)agC>agT	p.S385S	TOPORS_ENST00000379858.1_Silent_p.S320S	NM_005802.4	NP_005793.2	Q9NS56	TOPRS_HUMAN	topoisomerase I binding, arginine/serine-rich, E3 ubiquitin protein ligase	385					cellular response to DNA damage stimulus (GO:0006974)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|maintenance of protein location in nucleus (GO:0051457)|negative regulation of apoptotic process (GO:0043066)|photoreceptor cell outer segment organization (GO:0035845)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K48-linked ubiquitination (GO:0070936)|protein localization to nucleus (GO:0034504)|protein monoubiquitination (GO:0006513)|protein sumoylation (GO:0016925)|regulation of cell proliferation (GO:0042127)|retina layer formation (GO:0010842)|retinal cone cell development (GO:0046549)|retinal rod cell development (GO:0046548)|transcription, DNA-templated (GO:0006351)|ubiquitin-dependent protein catabolic process (GO:0006511)	centriole (GO:0005814)|ciliary basal body (GO:0036064)|gamma-tubulin complex (GO:0000930)|midbody (GO:0030496)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|photoreceptor connecting cilium (GO:0032391)|PML body (GO:0016605)|spindle pole (GO:0000922)|ubiquitin ligase complex (GO:0000151)	antigen binding (GO:0003823)|DNA binding (GO:0003677)|DNA topoisomerase binding (GO:0044547)|SUMO ligase activity (GO:0019789)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			large_intestine(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.0018)		AATCAGAATGGCTGCCTTCTT	0.443																																						ENST00000360538.2																			0				large_intestine(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12						c.(1153-1155)agC>agT		topoisomerase I binding, arginine/serine-rich, E3 ubiquitin protein ligase							73	75	74					9																	32543368		2203	4300	6503	SO:0001819	synonymous_variant	10210				DNA damage response, signal transduction resulting in induction of apoptosis|maintenance of protein location in nucleus|proteasomal ubiquitin-dependent protein catabolic process|protein sumoylation|transcription, DNA-dependent	nuclear speck|PML body	antigen binding|DNA binding|DNA topoisomerase I binding|SUMO ligase activity|ubiquitin-protein ligase activity|zinc ion binding	g.chr9:32543368G>A	AF098300	CCDS6527.1, CCDS56566.1	9p21	2013-01-09	2010-09-17		ENSG00000197579	ENSG00000197579		"RING-type (C3HC4) zinc fingers"	21653	protein-coding gene	gene with protein product		609507	"retinitis pigmentosa 31 (autosomal dominant)", "topoisomerase I binding, arginine/serine-rich"	RP31		10352183, 12083797, 17924349	Standard	NM_005802		Approved	TP53BPL, LUN	uc003zrb.3	Q9NS56	OTTHUMG00000019743	ENST00000360538.2:c.1155C>T	9.37:g.32543368G>A						TOPORS_ENST00000379858.1_Silent_p.S320S	p.S385S	NM_005802.4	NP_005793.2	Q9NS56	TOPRS_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.0018)	3	1271	-			385					O43273|Q6P987|Q9NS55|Q9UNR9	Silent	SNP	ENST00000360538.2	37	c.1155C>T	CCDS6527.1																																																																																				0.443	TOPORS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052007.1	NM_005802		14	47	0	0	0	1	0	14	47					A	32543368	G	A	32543368	2	1	435	1	0	0	0	0	0	0	0	1	16367	1194	42	3		3	TOPORS	9	32543368	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	911	32543368	108670063	4247	25172											
TAF1L	138474	broad.mit.edu	37	chr9	32633053	32633053	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tatcttccattcgtatcctcCgtggccgatctttactcttc	5	17	5	14	3	3	0	0	0	3	0	8	1	6	0	4	1	1	1	4	1	3	7			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:32633053C>T	ENST00000242310.4	-	1	2614	c.2525G>A	c.(2524-2526)cGg>cAg	p.R842Q	RP11-555J4.4_ENST00000430787.1_RNA	NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	842					DNA-templated transcription, initiation (GO:0006352)|histone acetylation (GO:0016573)|male meiosis (GO:0007140)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	transcription factor TFIID complex (GO:0005669)	DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine-acetylated histone binding (GO:0070577)|protein serine/threonine kinase activity (GO:0004674)|TBP-class protein binding (GO:0017025)			breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		TCGTATCCTCCGTGGCCGATC	0.463																																						ENST00000242310.4																			0				breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159						c.(2524-2526)cGg>cAg		TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like							108	114	112					9																	32633053		2203	4300	6503	SO:0001583	missense	138474				male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding	g.chr9:32633053C>T	AF390562	CCDS35003.1	9p12	2007-07-27	2007-07-27		ENSG00000122728	ENSG00000122728			18056	protein-coding gene	gene with protein product		607798	"TAF1-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa"			12217962	Standard	NM_153809		Approved		uc003zrg.1	Q8IZX4	OTTHUMG00000019747	ENST00000242310.4:c.2525G>A	9.37:g.32633053C>T	ENSP00000418379:p.Arg842Gln						p.R842Q	NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)	1	2614	-			842					Q0VG57	Missense_Mutation	SNP	ENST00000242310.4	37	c.2525G>A	CCDS35003.1	.	.	.	.	.	.	.	.	.	.	C	18.58	3.655360	0.67586	.	.	ENSG00000122728	ENST00000242310	T	0.13901	2.55	1.19	1.19	0.21007	Transcription initiation factor TFIID subunit 1, domain of unknown function (1);	0.000000	0.85682	D	0.000000	T	0.32041	0.0816	M	0.78916	2.43	0.53005	D	0.999967	D	0.89917	1.0	D	0.80764	0.994	T	0.05435	-1.0885	10	0.87932	D	0	.	7.8312	0.29344	0.0:1.0:0.0:0.0	.	842	Q8IZX4	TAF1L_HUMAN	Q	842	ENSP00000418379:R842Q	ENSP00000418379:R842Q	R	-	2	0	TAF1L	32623053	1.000000	0.71417	0.997000	0.53966	0.851000	0.48451	4.927000	0.63440	0.632000	0.30432	0.195000	0.17529	CGG		0.463	TAF1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052012.2			38	84	0	0	0	1	0	38	84					T	32633053	C	T	32633053	3	4	435	1	0	0	0	0	1	0	0	0	15520	652	23	2	2959	2	TAF1L	9	32633053	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	89685	32633053	108580378	4248	25173											
TMEM215	401498	broad.mit.edu	37	chr9	32784344	32784344	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccatctgcctaccaggcatcGcagccattgccctggccagg	7	7	10	17	1	1	0	0	0	1	0	2	0	1	0	6	3	4	2	6	3	1	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:32784344G>A	ENST00000342743.5	+	2	528	c.163G>A	c.(163-165)Gca>Aca	p.A55T		NM_212558.2	NP_997723.2	Q68D42	TM215_HUMAN	transmembrane protein 215	55						integral component of membrane (GO:0016021)				endometrium(4)|kidney(1)|large_intestine(3)|lung(2)|prostate(2)	12						ACCAGGCATCGCAGCCATTGC	0.582																																						ENST00000342743.5																			0				endometrium(4)|kidney(1)|large_intestine(3)|lung(2)|prostate(2)	12						c.(163-165)Gca>Aca		transmembrane protein 215							71	64	66					9																	32784344		2203	4300	6503	SO:0001583	missense	401498					integral to membrane		g.chr9:32784344G>A		CCDS6530.1	9p21.1	2008-08-08			ENSG00000188133	ENSG00000188133			33816	protein-coding gene	gene with protein product							Standard	NM_212558		Approved		uc003zri.4	Q68D42	OTTHUMG00000129521	ENST00000342743.5:c.163G>A	9.37:g.32784344G>A	ENSP00000345468:p.Ala55Thr						p.A55T	NM_212558.2	NP_997723.2	Q68D42	TM215_HUMAN			2	528	+			55					Q6ZUU2	Missense_Mutation	SNP	ENST00000342743.5	37	c.163G>A	CCDS6530.1	.	.	.	.	.	.	.	.	.	.	G	15.50	2.852683	0.51270	.	.	ENSG00000188133	ENST00000342743	.	.	.	5.05	5.05	0.67936	.	0.000000	0.64402	D	0.000002	T	0.63046	0.2478	L	0.27053	0.805	0.47065	D	0.999301	D	0.76494	0.999	D	0.63381	0.914	T	0.67914	-0.5547	9	0.87932	D	0	-10.1634	15.8897	0.79286	0.0:0.0:1.0:0.0	.	55	Q68D42	TM215_HUMAN	T	55	.	ENSP00000345468:A55T	A	+	1	0	TMEM215	32774344	1.000000	0.71417	0.270000	0.24601	0.947000	0.59692	7.480000	0.81109	2.344000	0.79699	0.462000	0.41574	GCA		0.582	TMEM215-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251701.1	NM_212558		14	28	0	0	0	1	0	14	28					A	32784344	G	A	32784344	3	1	435	1	0	0	0	0	1	0	0	0	16135	1087	38	1	165	1	TMEM215	9	32784344	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	151291	32784344	108429087	4249	25174											
DNAJA1	3301	broad.mit.edu	37	chr9	33029903	33029903	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtaaaaatgttgtacatcagCtctcagtaaccctagaagac	15	10	7	9	0	2	2	2	0	1	2	3	2	2	2	1	0	3	5	1	0	7	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:33029903C>A	ENST00000330899.4	+	4	514	c.331C>A	c.(331-333)Ctc>Atc	p.L111I	DNAJA1_ENST00000495015.1_Intron|DNAJA1_ENST00000544625.1_5'UTR	NM_001539.2	NP_001530.1	P31689	DNJA1_HUMAN	DnaJ (Hsp40) homolog, subfamily A, member 1	111					androgen receptor signaling pathway (GO:0030521)|DNA damage response, detection of DNA damage (GO:0042769)|negative regulation of apoptotic process (GO:0043066)|negative regulation of JUN kinase activity (GO:0043508)|negative regulation of protein ubiquitination (GO:0031397)|positive regulation of apoptotic process (GO:0043065)|protein folding (GO:0006457)|protein localization to mitochondrion (GO:0070585)|regulation of protein transport (GO:0051223)|response to heat (GO:0009408)|response to unfolded protein (GO:0006986)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)	cytoplasmic side of endoplasmic reticulum membrane (GO:0098554)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|G-protein coupled receptor binding (GO:0001664)|Hsp70 protein binding (GO:0030544)|low-density lipoprotein particle receptor binding (GO:0050750)|metal ion binding (GO:0046872)|ubiquitin protein ligase binding (GO:0031625)			large_intestine(2)|ovary(1)|skin(3)	6			LUSC - Lung squamous cell carcinoma(29;0.0227)	GBM - Glioblastoma multiforme(74;0.102)		TGTACATCAGCTCTCAGTAAC	0.343																																						ENST00000330899.4																			0				large_intestine(2)|ovary(1)|skin(3)	6						c.(331-333)Ctc>Atc		DnaJ (Hsp40) homolog, subfamily A, member 1							101	102	102					9																	33029903		2203	4299	6502	SO:0001583	missense	3301				protein folding|response to heat|response to unfolded protein	membrane	ATP binding|heat shock protein binding|low-density lipoprotein particle receptor binding|metal ion binding|unfolded protein binding	g.chr9:33029903C>A	L08069	CCDS6533.1	9p13.3	2011-09-02			ENSG00000086061	ENSG00000086061		"Heat shock proteins / DNAJ (HSP40)"	5229	protein-coding gene	gene with protein product	"neural precursor cell expressed, developmentally down-regulated 7"	602837		HSJ2		8334160, 11147971	Standard	NM_001539		Approved	HSPF4, hdj-2, dj-2, NEDD7	uc003zsd.1	P31689	OTTHUMG00000019760	ENST00000330899.4:c.331C>A	9.37:g.33029903C>A	ENSP00000369127:p.Leu111Ile					DNAJA1_ENST00000544625.1_5'UTR|DNAJA1_ENST00000495015.1_Intron	p.L111I	NM_001539.2	NP_001530.1	P31689	DNJA1_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0227)	GBM - Glioblastoma multiforme(74;0.102)	4	514	+			111					Q5T7Q0|Q86TL9	Missense_Mutation	SNP	ENST00000330899.4	37	c.331C>A	CCDS6533.1	.	.	.	.	.	.	.	.	.	.	C	15.37	2.812327	0.50527	.	.	ENSG00000086061	ENST00000330899	T	0.49720	0.77	5.29	4.15	0.48705	HSP40/DnaJ peptide-binding (1);Heat shock protein DnaJ, N-terminal (1);	0.061993	0.64402	D	0.000008	T	0.47414	0.1444	M	0.78456	2.415	0.80722	D	1	B;B	0.28667	0.219;0.078	B;B	0.33620	0.157;0.167	T	0.55692	-0.8101	10	0.62326	D	0.03	-9.1861	5.4791	0.16713	0.0:0.764:0.0:0.236	.	111;111	Q86TL9;P31689	.;DNJA1_HUMAN	I	111	ENSP00000369127:L111I	ENSP00000369127:L111I	L	+	1	0	DNAJA1	33019903	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.688000	0.37690	2.648000	0.89879	0.561000	0.74099	CTC		0.343	DNAJA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052031.1			19	36	1	0	3.51602e-12	1	3.7986e-12	19	36					A	33029903	C	A	33029903	3	1	435	1	0	0	0	0	1	0	0	0	4611	797	28	5	341	5	DNAJA1	9	33029903	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	245559	33029903	108183528	4250	25175											
DNAJA1	3301	broad.mit.edu	37	chr9	33036611	33036611	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atgtgtatggacatacagctCgttgaagcactgtgtggctt	9	13	12	7	1	0	1	0	1	0	0	1	2	0	2	0	2	3	5	0	2	3	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:33036611C>T	ENST00000330899.4	+	7	981	c.798C>T	c.(796-798)ctC>ctT	p.L266L	DNAJA1_ENST00000495015.1_3'UTR|DNAJA1_ENST00000544625.1_Silent_p.L109L	NM_001539.2	NP_001530.1	P31689	DNJA1_HUMAN	DnaJ (Hsp40) homolog, subfamily A, member 1	266					androgen receptor signaling pathway (GO:0030521)|DNA damage response, detection of DNA damage (GO:0042769)|negative regulation of apoptotic process (GO:0043066)|negative regulation of JUN kinase activity (GO:0043508)|negative regulation of protein ubiquitination (GO:0031397)|positive regulation of apoptotic process (GO:0043065)|protein folding (GO:0006457)|protein localization to mitochondrion (GO:0070585)|regulation of protein transport (GO:0051223)|response to heat (GO:0009408)|response to unfolded protein (GO:0006986)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)	cytoplasmic side of endoplasmic reticulum membrane (GO:0098554)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|G-protein coupled receptor binding (GO:0001664)|Hsp70 protein binding (GO:0030544)|low-density lipoprotein particle receptor binding (GO:0050750)|metal ion binding (GO:0046872)|ubiquitin protein ligase binding (GO:0031625)			large_intestine(2)|ovary(1)|skin(3)	6			LUSC - Lung squamous cell carcinoma(29;0.0227)	GBM - Glioblastoma multiforme(74;0.102)		ACATACAGCTCGTTGAAGCAC	0.408																																						ENST00000330899.4																			0				large_intestine(2)|ovary(1)|skin(3)	6						c.(796-798)ctC>ctT		DnaJ (Hsp40) homolog, subfamily A, member 1							90	82	85					9																	33036611		2203	4300	6503	SO:0001819	synonymous_variant	3301				protein folding|response to heat|response to unfolded protein	membrane	ATP binding|heat shock protein binding|low-density lipoprotein particle receptor binding|metal ion binding|unfolded protein binding	g.chr9:33036611C>T	L08069	CCDS6533.1	9p13.3	2011-09-02			ENSG00000086061	ENSG00000086061		"Heat shock proteins / DNAJ (HSP40)"	5229	protein-coding gene	gene with protein product	"neural precursor cell expressed, developmentally down-regulated 7"	602837		HSJ2		8334160, 11147971	Standard	NM_001539		Approved	HSPF4, hdj-2, dj-2, NEDD7	uc003zsd.1	P31689	OTTHUMG00000019760	ENST00000330899.4:c.798C>T	9.37:g.33036611C>T						DNAJA1_ENST00000544625.1_Silent_p.L109L|DNAJA1_ENST00000495015.1_3'UTR	p.L266L	NM_001539.2	NP_001530.1	P31689	DNJA1_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0227)	GBM - Glioblastoma multiforme(74;0.102)	7	981	+			266					Q5T7Q0|Q86TL9	Silent	SNP	ENST00000330899.4	37	c.798C>T	CCDS6533.1																																																																																				0.408	DNAJA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052031.1			9	25	0	0	0	1	0	9	25					T	33036611	C	T	33036611	2	4	435	1	0	0	0	0	0	0	0	1	4611	871	31	2		2	DNAJA1	9	33036611	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	6708	33036611	108176820	4251	25176											
CHMP5	51510	broad.mit.edu	37	chr9	33265135	33265135	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gccgcccagcctgactgactGcattggcacggtgggcattt	6	9	13	13	2	0	2	0	2	0	0	0	2	0	2	3	3	2	3	3	3	0	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:33265135G>A	ENST00000223500.8	+	1	196	c.59G>A	c.(58-60)tGc>tAc	p.C20Y	BAG1_ENST00000379704.2_5'Flank|BAG1_ENST00000472232.3_5'Flank|CHMP5_ENST00000419016.2_Missense_Mutation_p.C20Y	NM_016410.5	NP_057494.3	Q9NZZ3	CHMP5_HUMAN	charged multivesicular body protein 5	20					endosomal transport (GO:0016197)|endosome to lysosome transport (GO:0008333)|lysosome organization (GO:0007040)|membrane organization (GO:0061024)|protein transport (GO:0015031)|regulation of receptor recycling (GO:0001919)|viral life cycle (GO:0019058)|viral process (GO:0016032)	cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)				endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)	10			LUSC - Lung squamous cell carcinoma(29;0.00506)			CTGACTGACTGCATTGGCACG	0.582																																						ENST00000419016.2																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)	10						c.(58-60)tGc>tAc		charged multivesicular body protein 5							99	109	106					9																	33265135		2203	4300	6503	SO:0001583	missense	51510				cellular membrane organization|protein transport	cytosol|endosome membrane	protein binding	g.chr9:33265135G>A	AF132968	CCDS6537.1, CCDS56569.1	9p13.3	2011-09-21	2011-09-21	2005-08-09	ENSG00000086065	ENSG00000086065		"Charged multivesicular body proteins"	26942	protein-coding gene	gene with protein product		610900	"chromosome 9 open reading frame 83", "chromatin modifying protein 5"	C9orf83, SNF7DC2		15644320, 11559748	Standard	NM_016410		Approved	HSPC177, CGI-34, Vps60	uc003zsm.4	Q9NZZ3	OTTHUMG00000019765	ENST00000223500.8:c.59G>A	9.37:g.33265135G>A	ENSP00000223500:p.Cys20Tyr					CHMP5_ENST00000223500.8_Missense_Mutation_p.C20Y	p.C20Y	NM_001195536.1	NP_001182465.1	Q9NZZ3	CHMP5_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.00506)		1	99	+			20					B2RD95|B4DIR6|Q5VXW2|Q96AV2|Q9HB68|Q9NYS4|Q9Y323	Missense_Mutation	SNP	ENST00000223500.8	37	c.59G>A	CCDS6537.1	.	.	.	.	.	.	.	.	.	.	g	20.5	4.004029	0.74932	.	.	ENSG00000086065	ENST00000223500;ENST00000419016	T;T	0.71934	-0.61;-0.61	4.7	4.7	0.59300	.	0.096845	0.64402	D	0.000001	T	0.76343	0.3974	M	0.83483	2.645	0.80722	D	1	B;P	0.40794	0.298;0.729	B;B	0.44315	0.155;0.446	T	0.81040	-0.1113	10	0.87932	D	0	-2.9805	13.0265	0.58819	0.0:0.0:1.0:0.0	.	20;20	B4DIR6;Q9NZZ3	.;CHMP5_HUMAN	Y	20	ENSP00000223500:C20Y;ENSP00000442725:C20Y	ENSP00000223500:C20Y	C	+	2	0	CHMP5	33255135	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	8.273000	0.89887	2.445000	0.82738	0.298000	0.19748	TGC		0.582	CHMP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052040.3	NM_016410		31	55	0	0	0	1	0	31	55					A	33265135	G	A	33265135	3	1	435	1	0	0	0	0	1	0	0	0	3359	1319	46	3	61	3	CHMP5	9	33265135	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	228524	33265135	107948296	4252	25177											
UBAP2	54926	broad.mit.edu	37	chr9	33923389	33923389	+	IGR	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cccctcacctgtactgtagcCgtgctggccataaccactgg	7	9	9	16	1	1	0	1	0	0	0	1	0	1	0	6	2	4	3	6	2	3	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:33923389C>T	ENST00000263228.3	+	0	4075				UBAP2_ENST00000379235.1_Missense_Mutation_p.G201S|UBAP2_ENST00000379238.1_Missense_Mutation_p.G962S|UBAP2_ENST00000379239.4_Missense_Mutation_p.G695S|UBAP2_ENST00000360802.1_Missense_Mutation_p.G962S|UBAP2_ENST00000449054.1_Missense_Mutation_p.G962S|UBAP2_ENST00000539807.1_Missense_Mutation_p.G717S	NM_017811.3	NP_060281.2	Q712K3	UB2R2_HUMAN	ubiquitin-conjugating enzyme E2R 2						protein K48-linked ubiquitination (GO:0070936)|protein monoubiquitination (GO:0006513)		acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)|ubiquitin-protein transferase activity (GO:0004842)			endometrium(1)|kidney(1)|large_intestine(3)|lung(3)	8			LUSC - Lung squamous cell carcinoma(29;0.0176)	GBM - Glioblastoma multiforme(74;0.188)		GTACTGTAGCCGTGCTGGCCA	0.602																																						ENST00000379238.1																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(13)|ovary(3)|stomach(1)	32						c.(2884-2886)Ggc>Agc		ubiquitin associated protein 2							263	257	259					9																	33923389		2203	4300	6503	SO:0001628	intergenic_variant	55833							g.chr9:33923389C>T	AK000426	CCDS6546.1	9p11.2	2008-02-05			ENSG00000107341	ENSG00000107341		"Ubiquitin-conjugating enzymes E2"	19907	protein-coding gene	gene with protein product		612506				12037680	Standard	XM_005251496		Approved	UBC3B, CDC34B, FLJ20419, MGC10481	uc003ztm.3	Q712K3	OTTHUMG00000019797		9.37:g.33923389C>T						UBAP2_ENST00000379239.4_Missense_Mutation_p.G695S|UBAP2_ENST00000539807.1_Missense_Mutation_p.G717S|UBAP2_ENST00000379235.1_Missense_Mutation_p.G201S|UBAP2_ENST00000449054.1_Missense_Mutation_p.G962S|UBAP2_ENST00000360802.1_Missense_Mutation_p.G962S	p.G962S			Q5T6F2	UBAP2_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.00575)	GBM - Glioblastoma multiforme(74;0.168)	25	3001	-			962					D3DRL5|Q9NX64	Missense_Mutation	SNP	ENST00000263228.3	37	c.2884G>A	CCDS6546.1	.	.	.	.	.	.	.	.	.	.	C	7.078	0.569742	0.13560	.	.	ENSG00000137073	ENST00000379238;ENST00000449054;ENST00000360802;ENST00000431417;ENST00000379235;ENST00000379239;ENST00000539807;ENST00000351580	T;T;T;T;T;T	0.36157	1.27;1.27;1.27;1.27;1.27;1.27	5.85	0.466	0.16716	.	0.431727	0.32970	N	0.005436	T	0.31009	0.0783	L	0.58810	1.83	0.80722	D	1	B;B;B;B	0.06786	0.001;0.001;0.001;0.001	B;B;B;B	0.04013	0.001;0.001;0.001;0.001	T	0.11867	-1.0570	10	0.37606	T	0.19	-1.1039	10.4167	0.44327	0.0:0.4394:0.0:0.5606	.	717;695;871;962	F5H2U4;A6NCA8;F5H2C8;Q5T6F2	.;.;.;UBAP2_HUMAN	S	962;962;962;871;201;695;717;396	ENSP00000368540:G962S;ENSP00000416932:G962S;ENSP00000354039:G962S;ENSP00000368537:G201S;ENSP00000368541:G695S;ENSP00000439329:G717S	ENSP00000259602:G396S	G	-	1	0	UBAP2	33913389	0.018000	0.18449	0.052000	0.19188	0.131000	0.20780	0.114000	0.15520	0.113000	0.18004	-0.302000	0.09304	GGC		0.602	UBE2R2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052118.1	NM_017811		5	215	0	0	0	1	0	5	215					T	33923389	C	T	33923389	1	4	435	0	1	0	0	0	0	0	0	0	16834	652	23	2		2	UBAP2	9	33923389	IGR	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	658254	33923389	107290042	4253	25178											
ARID3C	138715	broad.mit.edu	37	chr9	34622047	34622047	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	caccccgttgatctctagggCcatgttgatactgctgatgc	7	12	10	12	1	1	3	0	3	1	0	2	3	1	3	3	1	3	3	3	1	2	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:34622047C>T	ENST00000378909.2	-	6	1200	c.1108G>A	c.(1108-1110)Gcc>Acc	p.A370T	DCTN3_ENST00000378916.4_5'Flank|DCTN3_ENST00000341694.2_5'Flank|DCTN3_ENST00000447983.2_5'Flank|DCTN3_ENST00000378913.2_5'Flank|DCTN3_ENST00000259632.7_5'Flank|DCTN3_ENST00000477738.2_5'Flank	NM_001017363.1	NP_001017363.1	A6NKF2	ARI3C_HUMAN	AT rich interactive domain 3C (BRIGHT-like)	370	Pro-rich.|REKLES. {ECO:0000255|PROSITE- ProRule:PRU00819}.				positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane raft (GO:0045121)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)	14	all_epithelial(49;0.102)		STAD - Stomach adenocarcinoma(86;0.178)	GBM - Glioblastoma multiforme(74;0.175)		ATCTCTAGGGCCATGTTGATA	0.537																																						ENST00000378909.2																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)	14						c.(1108-1110)Gcc>Acc		AT rich interactive domain 3C (BRIGHT-like)							154	129	137					9																	34622047		2203	4300	6503	SO:0001583	missense	138715				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr9:34622047C>T		CCDS35006.1	9p13.2	2013-02-07	2006-11-08		ENSG00000205143	ENSG00000205143		"-"	21209	protein-coding gene	gene with protein product			"AT rich interactive domain 3C (BRIGHT- like)"				Standard	NM_001017363		Approved		uc011lon.2	A6NKF2	OTTHUMG00000000445	ENST00000378909.2:c.1108G>A	9.37:g.34622047C>T	ENSP00000368189:p.Ala370Thr						p.A370T	NM_001017363.1	NP_001017363.1	A6NKF2	ARI3C_HUMAN	STAD - Stomach adenocarcinoma(86;0.178)	GBM - Glioblastoma multiforme(74;0.175)	6	1200	-	all_epithelial(49;0.102)		370			Pro-rich.|REKLES.			Missense_Mutation	SNP	ENST00000378909.2	37	c.1108G>A	CCDS35006.1	.	.	.	.	.	.	.	.	.	.	C	23.1	4.378038	0.82682	.	.	ENSG00000205143	ENST00000378909	T	0.47528	0.84	5.03	5.03	0.67393	REKLES domain (1);	0.000000	0.45867	D	0.000331	T	0.47581	0.1453	L	0.41236	1.265	0.41869	D	0.990264	P	0.46395	0.877	P	0.49887	0.625	T	0.47837	-0.9086	10	0.59425	D	0.04	-14.3553	11.0671	0.47982	0.2875:0.7125:0.0:0.0	.	370	A6NKF2	ARI3C_HUMAN	T	370	ENSP00000368189:A370T	ENSP00000368189:A370T	A	-	1	0	ARID3C	34612047	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.618000	0.74214	2.612000	0.88384	0.549000	0.68633	GCC		0.537	ARID3C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348265.1	XM_071061		33	41	0	0	0	1	0	33	41					T	34622047	C	T	34622047	3	4	435	1	0	0	0	0	1	0	0	0	918	739	26	3	137	3	ARID3C	9	34622047	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	698658	34622047	106591384	4254	25179											
SIGMAR1	10280	broad.mit.edu	37	chr9	34635742	34635742	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ggtgctgaagacagtgtcggCcagcgcgaaggccagggtgg	8	5	19	9	3	0	2	0	1	0	1	1	3	0	2	2	5	2	1	2	5	2	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:34635742C>T	ENST00000277010.4	-	4	632	c.559G>A	c.(559-561)Gcc>Acc	p.A187T	SIGMAR1_ENST00000378892.1_Missense_Mutation_p.A98T|SIGMAR1_ENST00000461426.1_5'UTR|SIGMAR1_ENST00000477726.1_Missense_Mutation_p.A156T	NM_001282208.1|NM_005866.2	NP_001269137.1|NP_005857.1	Q99720	SGMR1_HUMAN	sigma non-opioid intracellular receptor 1	187					cell death (GO:0008219)|lipid transport (GO:0006869)|nervous system development (GO:0007399)|regulation of neuron apoptotic process (GO:0043523)	cell junction (GO:0030054)|cell projection (GO:0042995)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lipid particle (GO:0005811)|nuclear envelope (GO:0005635)	drug binding (GO:0008144)|opioid receptor activity (GO:0004985)			large_intestine(1)|lung(1)	2					Amitriptyline(DB00321)|Dextromethorphan(DB00514)|Nortriptyline(DB00540)|Pentazocine(DB00652)|Remoxipride(DB00409)	ACAGTGTCGGCCAGCGCGAAG	0.622																																						ENST00000378892.1																			0				large_intestine(1)|lung(1)	2						c.(292-294)Gcc>Acc		sigma non-opioid intracellular receptor 1	Dextromethorphan(DB00514)						125	108	114					9																	34635742		2203	4300	6503	SO:0001583	missense	10280				ergosterol biosynthetic process|lipid transport	cell junction|endoplasmic reticulum membrane|growth cone|integral to plasma membrane|lipid particle|nuclear inner membrane|nuclear outer membrane	C-8 sterol isomerase activity|drug binding	g.chr9:34635742C>T	BC004899	CCDS6562.1, CCDS6563.1	9p13.3	2008-12-18	2008-12-18	2008-12-18	ENSG00000147955	ENSG00000147955			8157	protein-coding gene	gene with protein product		601978	"opioid receptor, sigma 1"	OPRS1		8954936, 9453537	Standard	NM_005866		Approved	SR-BP1	uc003zvb.3	Q99720	OTTHUMG00000019829	ENST00000277010.4:c.559G>A	9.37:g.34635742C>T	ENSP00000277010:p.Ala187Thr					SIGMAR1_ENST00000477726.1_Missense_Mutation_p.A156T|SIGMAR1_ENST00000461426.1_5'UTR|SIGMAR1_ENST00000277010.4_Missense_Mutation_p.A187T	p.A98T			Q99720	SGMR1_HUMAN			3	719	-			187					D3DRM7|O00673|O00725|Q0Z9W6|Q153Z1|Q2TSD1|Q53GN2|Q7Z653|Q8N7H3|Q9NYX0	Missense_Mutation	SNP	ENST00000277010.4	37	c.292G>A	CCDS6562.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.033622	0.75504	.	.	ENSG00000147955	ENST00000378892;ENST00000277010;ENST00000360710;ENST00000477726	T;T;T	0.65178	-0.14;-0.14;-0.14	4.43	3.51	0.40186	.	0.121312	0.56097	D	0.000040	T	0.71728	0.3374	M	0.88450	2.955	0.50467	D	0.999875	P;B;P	0.49559	0.925;0.234;0.86	P;B;P	0.48270	0.572;0.244;0.453	T	0.76798	-0.2826	10	0.59425	D	0.04	-1.6638	11.5503	0.50716	0.0:0.9101:0.0:0.0899	.	156;187;167	A2A3U5;Q99720;Q99720-2	.;SGMR1_HUMAN;.	T	98;187;153;156	ENSP00000368170:A98T;ENSP00000277010:A187T;ENSP00000420022:A156T	ENSP00000277010:A187T	A	-	1	0	SIGMAR1	34625742	1.000000	0.71417	0.808000	0.32385	0.891000	0.51852	4.496000	0.60360	1.053000	0.40415	0.462000	0.41574	GCC		0.622	SIGMAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052204.1	NM_005866		21	17	0	0	0	1	0	21	17					T	34635742	C	T	34635742	3	4	435	1	0	0	0	0	1	0	0	0	14316	739	26	3	116	3	SIGMAR1	9	34635742	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	13695	34635742	106577689	4255	25180											
PIGO	84720	broad.mit.edu	37	chr9	35091339	35091339	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gatgcgctccgcatgcaacaGcagaagtgggaaggccaaca	13	4	13	11	2	0	1	0	0	0	1	1	3	1	2	2	2	5	4	2	2	4	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:35091339G>A	ENST00000378617.3	-	7	2939	c.2545C>T	c.(2545-2547)Ctg>Ttg	p.L849L	PIGO_ENST00000361778.2_Intron|PIGO_ENST00000298004.5_Intron|PIGO_ENST00000341666.3_Silent_p.L849L	NM_032634.3	NP_116023.2	Q8TEQ8	PIGO_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class O	849					C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|GPI anchor biosynthetic process (GO:0006506)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	transferase activity (GO:0016740)			endometrium(3)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)	38			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			GCATGCAACAGCAGAAGTGGG	0.562																																						ENST00000378617.3																			0				endometrium(3)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)	38						c.(2545-2547)Ctg>Ttg		phosphatidylinositol glycan anchor biosynthesis, class O							100	90	94					9																	35091339		2203	4300	6503	SO:0001819	synonymous_variant	84720				C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	transferase activity	g.chr9:35091339G>A	AB083625	CCDS6575.1, CCDS6576.1	9p13.2	2013-02-26	2006-06-28		ENSG00000165282	ENSG00000165282		"Phosphatidylinositol glycan anchor biosynthesis"	23215	protein-coding gene	gene with protein product		614730	"phosphatidylinositol glycan, class O"			10781593	Standard	NM_032634		Approved	DKFZp434M222, FLJ00135	uc003zwd.3	Q8TEQ8	OTTHUMG00000019854	ENST00000378617.3:c.2545C>T	9.37:g.35091339G>A						PIGO_ENST00000361778.2_Intron|PIGO_ENST00000298004.5_Intron|PIGO_ENST00000341666.3_Silent_p.L849L	p.L849L	NM_032634.3	NP_116023.2	Q8TEQ8	PIGO_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)		7	2939	-			849					B1AML3|Q6P154|Q6UX80|Q8TDS8|Q96CS9|Q9BVN9|Q9Y4B0	Silent	SNP	ENST00000378617.3	37	c.2545C>T	CCDS6575.1																																																																																				0.562	PIGO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052284.1	NM_032634		4	8	0	0	0	1	0	4	8					A	35091339	G	A	35091339	2	1	435	1	0	0	0	0	0	0	0	1	11894	962	34	3		3	PIGO	9	35091339	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	455597	35091339	106122092	4256	25181											
STOML2	30968	broad.mit.edu	37	chr9	35100964	35100964	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgcagccaggattcgaatagCttcagctttagccttggcct	8	12	10	11	1	1	0	1	0	0	0	2	2	1	1	3	2	5	3	3	2	3	6			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:35100964C>T	ENST00000356493.5	-	8	831	c.769G>A	c.(769-771)Gct>Act	p.A257T	STOML2_ENST00000452248.2_Missense_Mutation_p.A212T|STOML2_ENST00000487490.1_5'Flank|RP11-182N22.8_ENST00000431804.1_RNA	NM_013442.1	NP_038470.1	Q9UJZ1	STML2_HUMAN	stomatin (EPB72)-like 2	257					CD4-positive, alpha-beta T cell activation (GO:0035710)|cellular calcium ion homeostasis (GO:0006874)|interleukin-2 production (GO:0032623)|lipid localization (GO:0010876)|mitochondrial ATP synthesis coupled proton transport (GO:0042776)|mitochondrial calcium ion transport (GO:0006851)|mitochondrial protein processing (GO:0034982)|mitochondrion organization (GO:0007005)|positive regulation of cardiolipin metabolic process (GO:1900210)|positive regulation of mitochondrial DNA replication (GO:0090297)|positive regulation of mitochondrial membrane potential (GO:0010918)|protein oligomerization (GO:0051259)|stress-induced mitochondrial fusion (GO:1990046)|T cell receptor signaling pathway (GO:0050852)	cytoskeleton (GO:0005856)|extrinsic component of plasma membrane (GO:0019897)|membrane raft (GO:0045121)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)	cardiolipin binding (GO:1901612)|receptor binding (GO:0005102)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|prostate(1)	16			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			ATTCGAATAGCTTCAGCTTTA	0.532																																						ENST00000356493.5																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|prostate(1)	16						c.(769-771)Gct>Act		stomatin (EPB72)-like 2							180	178	179					9																	35100964		2203	4300	6503	SO:0001583	missense	30968					cytoskeleton	receptor binding	g.chr9:35100964C>T	AF190167	CCDS6577.1, CCDS69588.1, CCDS75830.1	9p13.1	2008-02-05			ENSG00000165283	ENSG00000165283			14559	protein-coding gene	gene with protein product		608292				10713127, 17121834	Standard	NM_001287031		Approved	SLP-2, HSPC108	uc003zwi.3	Q9UJZ1	OTTHUMG00000019851	ENST00000356493.5:c.769G>A	9.37:g.35100964C>T	ENSP00000348886:p.Ala257Thr					STOML2_ENST00000452248.2_Missense_Mutation_p.A212T	p.A257T	NM_013442.1	NP_038470.1	Q9UJZ1	STML2_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)		8	831	-			257					B4E1K7|D3DRN3|O60376|Q53G29|Q96FY2|Q9P042	Missense_Mutation	SNP	ENST00000356493.5	37	c.769G>A	CCDS6577.1	.	.	.	.	.	.	.	.	.	.	C	33	5.211319	0.95069	.	.	ENSG00000165283	ENST00000356493;ENST00000452248	D;D	0.98926	-3.82;-5.24	5.16	5.16	0.70880	.	0.106818	0.64402	D	0.000007	D	0.99199	0.9722	M	0.88450	2.955	0.80722	D	1	P;P	0.51933	0.944;0.949	P;D	0.62955	0.877;0.909	D	0.99387	1.0924	10	0.87932	D	0	-11.8849	18.8395	0.92177	0.0:1.0:0.0:0.0	.	212;257	B4E1K7;Q9UJZ1	.;STML2_HUMAN	T	257;212	ENSP00000348886:A257T;ENSP00000395743:A212T	ENSP00000348886:A257T	A	-	1	0	STOML2	35090964	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.421000	0.80204	2.692000	0.91855	0.563000	0.77884	GCT		0.532	STOML2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052273.1	NM_013442		76	99	0	0	0	1	0	76	99					T	35100964	C	T	35100964	3	4	435	1	0	0	0	0	1	0	0	0	15313	797	28	3	313	3	STOML2	9	35100964	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	9625	35100964	106112467	4257	25182											
STOML2	30968	broad.mit.edu	37	chr9	35102754	35102754	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ctgctgcggcacgaacagtaCcacggtgtttcggggcaatc	8	8	13	12	4	0	0	0	0	0	0	2	1	0	0	1	4	4	5	1	4	3	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:35102754C>T	ENST00000356493.5	-	2	174	c.112G>A	c.(112-114)Gta>Ata	p.V38I	STOML2_ENST00000452248.2_Missense_Mutation_p.V38I|STOML2_ENST00000487490.1_5'Flank	NM_013442.1	NP_038470.1	Q9UJZ1	STML2_HUMAN	stomatin (EPB72)-like 2	38					CD4-positive, alpha-beta T cell activation (GO:0035710)|cellular calcium ion homeostasis (GO:0006874)|interleukin-2 production (GO:0032623)|lipid localization (GO:0010876)|mitochondrial ATP synthesis coupled proton transport (GO:0042776)|mitochondrial calcium ion transport (GO:0006851)|mitochondrial protein processing (GO:0034982)|mitochondrion organization (GO:0007005)|positive regulation of cardiolipin metabolic process (GO:1900210)|positive regulation of mitochondrial DNA replication (GO:0090297)|positive regulation of mitochondrial membrane potential (GO:0010918)|protein oligomerization (GO:0051259)|stress-induced mitochondrial fusion (GO:1990046)|T cell receptor signaling pathway (GO:0050852)	cytoskeleton (GO:0005856)|extrinsic component of plasma membrane (GO:0019897)|membrane raft (GO:0045121)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)	cardiolipin binding (GO:1901612)|receptor binding (GO:0005102)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|prostate(1)	16			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			ACGAACAGTACCACGGTGTTT	0.637																																						ENST00000356493.5																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|prostate(1)	16						c.(112-114)Gta>Ata		stomatin (EPB72)-like 2							52	60	57					9																	35102754		2203	4299	6502	SO:0001583	missense	30968					cytoskeleton	receptor binding	g.chr9:35102754C>T	AF190167	CCDS6577.1, CCDS69588.1, CCDS75830.1	9p13.1	2008-02-05			ENSG00000165283	ENSG00000165283			14559	protein-coding gene	gene with protein product		608292				10713127, 17121834	Standard	NM_001287031		Approved	SLP-2, HSPC108	uc003zwi.3	Q9UJZ1	OTTHUMG00000019851	ENST00000356493.5:c.112G>A	9.37:g.35102754C>T	ENSP00000348886:p.Val38Ile					STOML2_ENST00000452248.2_Missense_Mutation_p.V38I	p.V38I	NM_013442.1	NP_038470.1	Q9UJZ1	STML2_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)		2	174	-			38					B4E1K7|D3DRN3|O60376|Q53G29|Q96FY2|Q9P042	Missense_Mutation	SNP	ENST00000356493.5	37	c.112G>A	CCDS6577.1	.	.	.	.	.	.	.	.	.	.	C	14.44	2.535343	0.45176	.	.	ENSG00000165283	ENST00000356493;ENST00000452248	D;D	0.97752	-3.37;-4.52	5.41	4.28	0.50868	.	0.119152	0.56097	N	0.000034	D	0.91068	0.7189	N	0.08118	0	0.45046	D	0.998069	B;B	0.09022	0.002;0.002	B;B	0.15052	0.004;0.012	D	0.85599	0.1251	10	0.02654	T	1	-3.6882	11.3485	0.49575	0.0:0.8874:0.0:0.1126	.	38;38	B4E1K7;Q9UJZ1	.;STML2_HUMAN	I	38	ENSP00000348886:V38I;ENSP00000395743:V38I	ENSP00000348886:V38I	V	-	1	0	STOML2	35092754	1.000000	0.71417	0.984000	0.44739	0.996000	0.88848	2.977000	0.49297	1.180000	0.42898	0.561000	0.74099	GTA		0.637	STOML2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052273.1	NM_013442		26	34	0	0	0	1	0	26	34					T	35102754	C	T	35102754	3	4	435	1	0	0	0	0	1	0	0	0	15313	507	18	3	994	3	STOML2	9	35102754	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	1790	35102754	106110677	4258	25183											
UNC13B	10497	broad.mit.edu	37	chr9	35399172	35399172	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ttgcagcctcaccctctttgCcactgtgtgtgagaagacgg	7	11	11	12	1	2	2	1	1	1	2	2	3	2	2	3	1	3	1	3	1	1	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:35399172C>T	ENST00000378495.3	+	33	4064	c.3842C>T	c.(3841-3843)gCc>gTc	p.A1281V	UNC13B_ENST00000396787.1_Missense_Mutation_p.A1293V|UNC13B_ENST00000378496.4_Missense_Mutation_p.A1281V	NM_006377.3	NP_006368.3	O14795	UN13B_HUMAN	unc-13 homolog B (C. elegans)	1281	MHD2. {ECO:0000255|PROSITE- ProRule:PRU00588}.				apoptotic process (GO:0006915)|excretion (GO:0007588)|innervation (GO:0060384)|intracellular signal transduction (GO:0035556)|neuromuscular junction development (GO:0007528)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|positive regulation of synaptic vesicle priming (GO:0010808)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|synaptic vesicle docking involved in exocytosis (GO:0016081)|synaptic vesicle priming (GO:0016082)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)|terminal bouton (GO:0043195)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)|receptor activity (GO:0004872)|signal transducer activity (GO:0004871)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(16)|liver(2)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_epithelial(49;0.212)		LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194)			ACCCTCTTTGCCACTGTGTGT	0.562																																						ENST00000378495.3																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(16)|liver(2)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	63						c.(3841-3843)gCc>gTc		unc-13 homolog B (C. elegans)							174	158	163					9																	35399172		2203	4300	6503	SO:0001583	missense	10497				excretion|induction of apoptosis|intracellular signal transduction	cell junction|Golgi apparatus|synapse	metal ion binding|receptor activity	g.chr9:35399172C>T	AF020202	CCDS6579.1	9p13.3	2008-05-15	2003-10-17	2003-10-17	ENSG00000198722	ENSG00000198722			12566	protein-coding gene	gene with protein product		605836	"unc-13-like (C. elegans)"	UNC13		9607201	Standard	NM_006377		Approved	hmunc13, Unc13h2	uc003zwq.3	O14795	OTTHUMG00000019856	ENST00000378495.3:c.3842C>T	9.37:g.35399172C>T	ENSP00000367756:p.Ala1281Val					UNC13B_ENST00000378496.4_Missense_Mutation_p.A1281V|UNC13B_ENST00000396787.1_Missense_Mutation_p.A1293V	p.A1281V	NM_006377.3	NP_006368.3	O14795	UN13B_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194)		33	4064	+	all_epithelial(49;0.212)		1281			MHD2.		Q5VYM8	Missense_Mutation	SNP	ENST00000378495.3	37	c.3842C>T	CCDS6579.1	.	.	.	.	.	.	.	.	.	.	C	36	5.724970	0.96847	.	.	ENSG00000198722	ENST00000396787;ENST00000378495;ENST00000378496;ENST00000535471	T;T;T	0.76060	-0.99;-0.99;-0.99	6.08	6.08	0.98989	Mammalian uncoordinated homology 13, domain 2 (1);Mammalian uncoordinated homology 13, subgroup, domain 2 (1);	0.000000	0.85682	D	0.000000	D	0.88024	0.6326	M	0.86028	2.79	0.80722	D	1	D;D	0.89917	0.998;1.0	D;D	0.91635	0.943;0.999	D	0.88852	0.3320	10	0.87932	D	0	-16.2104	17.5802	0.87965	0.0:1.0:0.0:0.0	.	1281;1281	F8W8M9;O14795	.;UN13B_HUMAN	V	1293;1281;1281;868	ENSP00000380006:A1293V;ENSP00000367756:A1281V;ENSP00000367757:A1281V	ENSP00000367756:A1281V	A	+	2	0	UNC13B	35389172	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.035000	0.76517	2.894000	0.99253	0.655000	0.94253	GCC		0.562	UNC13B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000052296.1	NM_006377		41	66	0	0	0	1	0	41	66					T	35399172	C	T	35399172	3	4	435	1	0	0	0	0	1	0	0	0	16982	739	26	3	3972	3	UNC13B	9	35399172	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	296418	35399172	105814259	4259	25184											
RUSC2	9853	broad.mit.edu	37	chr9	35546639	35546639	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtggaggtggtgggagcacaAgacctaatcccttctgccca	9	8	13	11	0	1	1	0	0	1	1	2	3	2	3	3	4	2	1	3	4	2	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:35546639A>C	ENST00000455600.1	+	2	690	c.121A>C	c.(121-123)Aga>Cga	p.R41R	RUSC2_ENST00000468041.1_3'UTR	NM_001135999.1	NP_001129471	Q8N2Y8	RUSC2_HUMAN	RUN and SH3 domain containing 2	41						cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)	Rab GTPase binding (GO:0017137)			NS(1)|breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(4)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32			Lung(28;0.000837)|LUSC - Lung squamous cell carcinoma(32;0.00109)|STAD - Stomach adenocarcinoma(86;0.194)			TGGGAGCACAAGACCTAATCC	0.597																																						ENST00000455600.1																			0				NS(1)|breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(4)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(121-123)Aga>Cga		RUN and SH3 domain containing 2							77	72	73					9																	35546639		2203	4300	6503	SO:0001819	synonymous_variant	9853					cytosol		g.chr9:35546639A>C	AB002373	CCDS35008.1	9p13.2	2003-12-02			ENSG00000198853	ENSG00000198853			23625	protein-coding gene	gene with protein product		611053				9205841	Standard	NM_001135999		Approved	KIAA0375	uc003zww.3	Q8N2Y8	OTTHUMG00000019861	ENST00000455600.1:c.121A>C	9.37:g.35546639A>C						RUSC2_ENST00000468041.1_3'UTR	p.R41R	NM_001135999.1	NP_001129471.1	Q8N2Y8	RUSC2_HUMAN	Lung(28;0.000837)|LUSC - Lung squamous cell carcinoma(32;0.00109)|STAD - Stomach adenocarcinoma(86;0.194)		2	690	+			41					A2RU62|A7E2A9|O15080|Q5W134|Q641Q6|Q6P1W7	Silent	SNP	ENST00000455600.1	37	c.121A>C	CCDS35008.1																																																																																				0.597	RUSC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052309.1	XM_048462		12	25	0	0	0	1	0	12	25					C	35546639	A	C	35546639	2	2	435	1	0	0	0	0	0	0	0	1	13751	64	3	5		5	RUSC2	9	35546639	Silent	SNP	A	TCGA-XK-AAIW-01A-11D-A41K-08	147467	35546639	105666792	4260	25185											
C9orf100	84904	broad.mit.edu	37	chr9	35662261	35662261	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagcttctcatgagggaaggAcagctagagagagaccacct	13	7	12	9	0	1	3	1	1	1	2	2	7	1	5	2	2	2	2	2	2	3	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:35662261A>G	ENST00000378387.3	-	8	1024	c.907T>C	c.(907-909)Tcc>Ccc	p.S303P	ARHGEF39_ENST00000378395.2_Missense_Mutation_p.S267P|ARHGEF39_ENST00000343259.3_Missense_Mutation_p.V183A|ARHGEF39_ENST00000490970.1_5'UTR	NM_032818.2	NP_116207.2	Q8N4T4	ARG39_HUMAN	Rho guanine nucleotide exchange factor (GEF) 39	303	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				positive regulation of cell migration (GO:0030335)	plasma membrane (GO:0005886)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)										TGAGGGAAGGACAGCTAGAGA	0.512																																						ENST00000378387.3																			0											c.(907-909)Tcc>Ccc		Rho guanine nucleotide exchange factor (GEF) 39							107	93	98					9																	35662261		2203	4300	6503	SO:0001583	missense	84904							g.chr9:35662261A>G	AK001187	CCDS6584.2	9p13.3	2012-08-08	2012-08-08	2012-08-08	ENSG00000137135	ENSG00000137135			25909	protein-coding gene	gene with protein product			"chromosome 9 open reading frame 100"	C9orf100		22327280	Standard	XR_242516		Approved	FLJ14642	uc003zxm.1	Q8N4T4	OTTHUMG00000019869	ENST00000378387.3:c.907T>C	9.37:g.35662261A>G	ENSP00000367638:p.Ser303Pro					ARHGEF39_ENST00000343259.3_Missense_Mutation_p.V183A|ARHGEF39_ENST00000490970.1_5'UTR|ARHGEF39_ENST00000378395.2_Missense_Mutation_p.S267P	p.S303P	NM_032818.2	NP_116207.2					8	1024	-								Q49AG0|Q6TPQ2|Q96ST6	Missense_Mutation	SNP	ENST00000378387.3	37	c.907T>C	CCDS6584.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	5.994|5.994	0.367379|0.367379	0.11352|0.11352	.|.	.|.	ENSG00000137135|ENSG00000137135	ENST00000378387;ENST00000378395|ENST00000343259	T;T|T	0.41400|0.19250	1.0;1.0|2.16	5.97|5.97	5.97|5.97	0.96955|0.96955	Pleckstrin homology-type (1);Pleckstrin homology domain (2);|.	.|.	.|.	.|.	.|.	T|T	0.21307|0.21307	0.0513|0.0513	L|L	0.50333|0.50333	1.59|1.59	0.22112|0.22112	N|N	0.999355|0.999355	P|.	0.43578|.	0.811|.	B|.	0.43623|.	0.425|.	T|T	0.29701|0.29701	-1.0003|-1.0003	9|7	0.52906|0.02654	T|T	0.07|1	-7.7222|-7.7222	12.8422|12.8422	0.57809|0.57809	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	303|.	Q8N4T4|.	CI100_HUMAN|.	P|A	303;267|183	ENSP00000367638:S303P;ENSP00000367648:S267P|ENSP00000344922:V183A	ENSP00000367638:S303P|ENSP00000344922:V183A	S|V	-|-	1|2	0|0	C9orf100|C9orf100	35652261|35652261	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	3.227000|3.227000	0.51262|0.51262	2.288000|2.288000	0.76882|0.76882	0.533000|0.533000	0.62120|0.62120	TCC|GTC		0.512	ARHGEF39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052330.1	NM_032818		11	21	0	0	0	1	0	11	21					G	35662261	A	G	35662261	3	3	435	1	0	0	0	0	1	0	0	0	2444	275	10	4	108	4	C9orf100	9	35662261	Missense_Mutation	SNP	A	TCGA-XK-AAIW-01A-11D-A41K-08	115622	35662261	105551170	4261	25186											
TPM2	7169	broad.mit.edu	37	chr9	35689221	35689221	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaatacttttccacctcatcCtctgtccccttcagcttctt	6	16	3	16	0	4	0	2	0	2	0	7	1	7	0	5	0	2	1	5	0	2	6	rs201888258		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:35689221C>A	ENST00000360958.2	-	2	266	c.162G>T	c.(160-162)gaG>gaT	p.E54D	TPM2_ENST00000329305.2_Missense_Mutation_p.E54D|TPM2_ENST00000378292.3_Missense_Mutation_p.E54D|TPM2_ENST00000378300.5_Missense_Mutation_p.E54D	NM_003289.3	NP_003280.2	P07951	TPM2_HUMAN	tropomyosin 2 (beta)	54					muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|regulation of ATPase activity (GO:0043462)	cytosol (GO:0005829)|muscle thin filament tropomyosin (GO:0005862)	actin binding (GO:0003779)|structural constituent of muscle (GO:0008307)			NS(1)|breast(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	all_epithelial(49;0.121)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			CCACCTCATCCTCTGTCCCCT	0.602																																						ENST00000378292.3																			0				NS(1)|breast(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						c.(160-162)gaG>gaT		tropomyosin 2 (beta)							129	117	121					9																	35689221		2203	4300	6503	SO:0001583	missense	7169				muscle filament sliding|regulation of ATPase activity	cytosol|muscle thin filament tropomyosin	actin binding|structural constituent of muscle	g.chr9:35689221C>A		CCDS6586.1, CCDS6587.1	9p13	2014-09-17	2003-12-02		ENSG00000198467	ENSG00000198467		"Tropomyosins"	12011	protein-coding gene	gene with protein product	"nemaline myopathy type 4"	190990	"arthrogryposis multiplex congenital, distal, type 1"	AMCD1		7606936	Standard	NM_003289		Approved	DA1, NEM4	uc003zxq.3	P07951	OTTHUMG00000019878	ENST00000360958.2:c.162G>T	9.37:g.35689221C>A	ENSP00000354219:p.Glu54Asp					TPM2_ENST00000360958.2_Missense_Mutation_p.E54D|TPM2_ENST00000329305.2_Missense_Mutation_p.E54D|TPM2_ENST00000378300.5_Missense_Mutation_p.E54D	p.E54D	NM_213674.1	NP_998839.1	P07951	TPM2_HUMAN	Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)		2	1364	-	all_epithelial(49;0.121)		54					A6NM85|P06468|Q13894|Q53FM4|Q5TCU4|Q5TCU7|Q9UH67	Missense_Mutation	SNP	ENST00000360958.2	37	c.162G>T	CCDS6587.1	.	.	.	.	.	.	.	.	.	.	C	19.74	3.883467	0.72410	.	.	ENSG00000198467	ENST00000378300;ENST00000378292;ENST00000329305;ENST00000360958	T;T;T;T	0.81330	-1.48;-1.48;-1.48;-1.48	4.94	1.0	0.19881	.	.	.	.	.	D	0.85583	0.5730	M	0.80847	2.515	0.39811	D	0.972707	B;B;B;P;B	0.44281	0.012;0.035;0.008;0.831;0.147	B;B;B;P;B	0.54706	0.39;0.173;0.096;0.759;0.288	D	0.84124	0.0408	9	0.56958	D	0.05	-6.9612	9.7768	0.40623	0.0:0.6352:0.0:0.3648	.	54;54;54;54;54	B4DGC2;A7XZE4;P07951;Q5TCU8;P07951-2	.;.;TPM2_HUMAN;.;.	D	54	ENSP00000367550:E54D;ENSP00000367542:E54D;ENSP00000367541:E54D;ENSP00000354219:E54D	ENSP00000367541:E54D	E	-	3	2	TPM2	35679221	1.000000	0.71417	0.946000	0.38457	0.998000	0.95712	0.819000	0.27308	0.018000	0.15052	0.561000	0.74099	GAG		0.602	TPM2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052376.1	NM_003289		18	33	1	0	1.45105e-14	1	1.58388e-14	18	33					A	35689221	C	A	35689221	3	1	435	1	0	0	0	0	1	0	0	0	16403	680	24	5	891	5	TPM2	9	35689221	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	26960	35689221	105524210	4262	25187											
TLN1	7094	broad.mit.edu	37	chr9	35700341	35700341	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atgaagtcttctggggtagaGgtcttggcaggtggctctgg	6	12	17	6	0	4	2	0	1	4	1	4	2	4	2	0	7	0	3	0	7	2	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:35700341G>T	ENST00000314888.9	-	49	6860	c.6507C>A	c.(6505-6507)acC>acA	p.T2169T	TLN1_ENST00000540444.1_Silent_p.T2057T	NM_006289.3	NP_006280.3	Q9Y490	TLN1_HUMAN	talin 1	2169					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-cell junction assembly (GO:0007043)|cell-substrate junction assembly (GO:0007044)|cellular component movement (GO:0006928)|cellular protein metabolic process (GO:0044267)|cortical actin cytoskeleton organization (GO:0030866)|cytoskeletal anchoring at plasma membrane (GO:0007016)|endoplasmic reticulum unfolded protein response (GO:0030968)|muscle contraction (GO:0006936)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|microtubule organizing center (GO:0005815)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	integrin binding (GO:0005178)|LIM domain binding (GO:0030274)|structural constituent of cytoskeleton (GO:0005200)|vinculin binding (GO:0017166)			NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6)	85	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			CTGGGGTAGAGGTCTTGGCAG	0.522																																						ENST00000314888.9																			0				NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6)	85						c.(6505-6507)acC>acA		talin 1							64	65	65					9																	35700341		2203	4300	6503	SO:0001819	synonymous_variant	7094				axon guidance|cell adhesion|cell-cell junction assembly|cellular component movement|cytoskeletal anchoring at plasma membrane|muscle contraction|platelet activation|platelet degranulation	actin cytoskeleton|centrosome|cytosol|extracellular region|focal adhesion|intracellular membrane-bounded organelle|ruffle membrane	actin binding|insulin receptor binding|LIM domain binding|structural constituent of cytoskeleton|vinculin binding	g.chr9:35700341G>T	AB028950	CCDS35009.1	9p23-p21	2008-02-05			ENSG00000137076	ENSG00000137076			11845	protein-coding gene	gene with protein product		186745		TLN		7635475, 10610730	Standard	NM_006289		Approved	ILWEQ	uc003zxt.2	Q9Y490	OTTHUMG00000019874	ENST00000314888.9:c.6507C>A	9.37:g.35700341G>T						TLN1_ENST00000540444.1_Silent_p.T2057T	p.T2169T	NM_006289.3	NP_006280.3	Q9Y490	TLN1_HUMAN	Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)		49	6860	-	all_epithelial(49;0.167)		2169					A6NMY0|Q86YD0|Q9NZQ2|Q9UHH8|Q9UPX3	Silent	SNP	ENST00000314888.9	37	c.6507C>A	CCDS35009.1																																																																																				0.522	TLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052353.2	NM_006289		26	29	1	0	1.16021e-09	1	1.23406e-09	26	29					T	35700341	G	T	35700341	2	4	435	1	0	0	0	0	0	0	0	1	15944	987	35	5		5	TLN1	9	35700341	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	11120	35700341	105513090	4263	25188											
TLN1	7094	broad.mit.edu	37	chr9	35703882	35703882	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tttggctacatctttcactgCgttgattagtaccacctgtg	7	16	8	10	1	2	1	1	1	1	0	2	1	2	1	2	1	3	3	2	1	3	6			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:35703882C>T	ENST00000314888.9	-	47	6600	c.6247G>A	c.(6247-6249)Gca>Aca	p.A2083T	TLN1_ENST00000464379.1_5'UTR|TLN1_ENST00000540444.1_Missense_Mutation_p.A1977T	NM_006289.3	NP_006280.3	Q9Y490	TLN1_HUMAN	talin 1	2083					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-cell junction assembly (GO:0007043)|cell-substrate junction assembly (GO:0007044)|cellular component movement (GO:0006928)|cellular protein metabolic process (GO:0044267)|cortical actin cytoskeleton organization (GO:0030866)|cytoskeletal anchoring at plasma membrane (GO:0007016)|endoplasmic reticulum unfolded protein response (GO:0030968)|muscle contraction (GO:0006936)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|microtubule organizing center (GO:0005815)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	integrin binding (GO:0005178)|LIM domain binding (GO:0030274)|structural constituent of cytoskeleton (GO:0005200)|vinculin binding (GO:0017166)			NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6)	85	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			TCTTTCACTGCGTTGATTAGT	0.537																																						ENST00000314888.9																			0				NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6)	85						c.(6247-6249)Gca>Aca		talin 1							156	141	146					9																	35703882		2203	4300	6503	SO:0001583	missense	7094				axon guidance|cell adhesion|cell-cell junction assembly|cellular component movement|cytoskeletal anchoring at plasma membrane|muscle contraction|platelet activation|platelet degranulation	actin cytoskeleton|centrosome|cytosol|extracellular region|focal adhesion|intracellular membrane-bounded organelle|ruffle membrane	actin binding|insulin receptor binding|LIM domain binding|structural constituent of cytoskeleton|vinculin binding	g.chr9:35703882C>T	AB028950	CCDS35009.1	9p23-p21	2008-02-05			ENSG00000137076	ENSG00000137076			11845	protein-coding gene	gene with protein product		186745		TLN		7635475, 10610730	Standard	NM_006289		Approved	ILWEQ	uc003zxt.2	Q9Y490	OTTHUMG00000019874	ENST00000314888.9:c.6247G>A	9.37:g.35703882C>T	ENSP00000316029:p.Ala2083Thr					TLN1_ENST00000540444.1_Missense_Mutation_p.A1977T|TLN1_ENST00000464379.1_5'UTR	p.A2083T	NM_006289.3	NP_006280.3	Q9Y490	TLN1_HUMAN	Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)		47	6600	-	all_epithelial(49;0.167)		2083					A6NMY0|Q86YD0|Q9NZQ2|Q9UHH8|Q9UPX3	Missense_Mutation	SNP	ENST00000314888.9	37	c.6247G>A	CCDS35009.1	.	.	.	.	.	.	.	.	.	.	C	25.3	4.625205	0.87560	.	.	ENSG00000137076	ENST00000314888;ENST00000540444	T;T	0.13089	2.62;2.62	4.98	4.98	0.66077	.	0.000000	0.85682	D	0.000000	T	0.42471	0.1204	M	0.85710	2.77	0.80722	D	1	D	0.89917	1.0	D	0.65684	0.937	T	0.50841	-0.8780	10	0.87932	D	0	-9.2616	18.2524	0.90007	0.0:1.0:0.0:0.0	.	2083	Q9Y490	TLN1_HUMAN	T	2083;1977	ENSP00000316029:A2083T;ENSP00000442981:A1977T	ENSP00000316029:A2083T	A	-	1	0	TLN1	35693882	1.000000	0.71417	1.000000	0.80357	0.838000	0.47535	4.926000	0.63433	2.317000	0.78254	0.561000	0.74099	GCA		0.537	TLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052353.2	NM_006289		8	67	0	0	0	1	0	8	67					T	35703882	C	T	35703882	3	4	435	1	0	0	0	0	1	0	0	0	15944	768	27	1	1422	1	TLN1	9	35703882	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	3541	35703882	105509549	4264	25189											
TLN1	7094	broad.mit.edu	37	chr9	35707456	35707456	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gctgctcggcactgggcacgGttctcctctgtgaaggcccc	4	9	13	15	2	2	1	0	1	2	0	4	1	2	1	3	4	1	5	3	4	1	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:35707456G>A	ENST00000314888.9	-	36	5015	c.4662C>T	c.(4660-4662)aaC>aaT	p.N1554N	TLN1_ENST00000464379.1_Intron|TLN1_ENST00000540444.1_Silent_p.N1554N	NM_006289.3	NP_006280.3	Q9Y490	TLN1_HUMAN	talin 1	1554	Interaction with SYNM.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-cell junction assembly (GO:0007043)|cell-substrate junction assembly (GO:0007044)|cellular component movement (GO:0006928)|cellular protein metabolic process (GO:0044267)|cortical actin cytoskeleton organization (GO:0030866)|cytoskeletal anchoring at plasma membrane (GO:0007016)|endoplasmic reticulum unfolded protein response (GO:0030968)|muscle contraction (GO:0006936)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|microtubule organizing center (GO:0005815)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	integrin binding (GO:0005178)|LIM domain binding (GO:0030274)|structural constituent of cytoskeleton (GO:0005200)|vinculin binding (GO:0017166)			NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6)	85	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			ACTGGGCACGGTTCTCCTCTG	0.577																																						ENST00000314888.9																			0				NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6)	85						c.(4660-4662)aaC>aaT		talin 1							45	42	43					9																	35707456		2203	4300	6503	SO:0001819	synonymous_variant	7094				axon guidance|cell adhesion|cell-cell junction assembly|cellular component movement|cytoskeletal anchoring at plasma membrane|muscle contraction|platelet activation|platelet degranulation	actin cytoskeleton|centrosome|cytosol|extracellular region|focal adhesion|intracellular membrane-bounded organelle|ruffle membrane	actin binding|insulin receptor binding|LIM domain binding|structural constituent of cytoskeleton|vinculin binding	g.chr9:35707456G>A	AB028950	CCDS35009.1	9p23-p21	2008-02-05			ENSG00000137076	ENSG00000137076			11845	protein-coding gene	gene with protein product		186745		TLN		7635475, 10610730	Standard	NM_006289		Approved	ILWEQ	uc003zxt.2	Q9Y490	OTTHUMG00000019874	ENST00000314888.9:c.4662C>T	9.37:g.35707456G>A						TLN1_ENST00000540444.1_Silent_p.N1554N|TLN1_ENST00000464379.1_Intron	p.N1554N	NM_006289.3	NP_006280.3	Q9Y490	TLN1_HUMAN	Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)		36	5015	-	all_epithelial(49;0.167)		1554			Interaction with SYNM.		A6NMY0|Q86YD0|Q9NZQ2|Q9UHH8|Q9UPX3	Silent	SNP	ENST00000314888.9	37	c.4662C>T	CCDS35009.1																																																																																				0.577	TLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052353.2	NM_006289		14	16	0	0	0	1	0	14	16					A	35707456	G	A	35707456	2	1	435	1	0	0	0	0	0	0	0	1	15944	1252	44	3		3	TLN1	9	35707456	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	3574	35707456	105505975	4265	25190											
TLN1	7094	broad.mit.edu	37	chr9	35714817	35714817	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccttgggggtagaggctgcGtgctgagctgcagcgatggt	5	9	19	8	2	0	2	0	1	0	1	0	3	0	2	1	4	5	5	1	4	1	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:35714817G>A	ENST00000314888.9	-	22	3164	c.2811C>T	c.(2809-2811)caC>caT	p.H937H	TLN1_ENST00000540444.1_Silent_p.H937H	NM_006289.3	NP_006280.3	Q9Y490	TLN1_HUMAN	talin 1	937					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-cell junction assembly (GO:0007043)|cell-substrate junction assembly (GO:0007044)|cellular component movement (GO:0006928)|cellular protein metabolic process (GO:0044267)|cortical actin cytoskeleton organization (GO:0030866)|cytoskeletal anchoring at plasma membrane (GO:0007016)|endoplasmic reticulum unfolded protein response (GO:0030968)|muscle contraction (GO:0006936)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|microtubule organizing center (GO:0005815)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	integrin binding (GO:0005178)|LIM domain binding (GO:0030274)|structural constituent of cytoskeleton (GO:0005200)|vinculin binding (GO:0017166)			NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6)	85	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			TAGAGGCTGCGTGCTGAGCTG	0.607																																						ENST00000314888.9																			0				NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6)	85						c.(2809-2811)caC>caT		talin 1							44	51	49					9																	35714817		2201	4300	6501	SO:0001819	synonymous_variant	7094				axon guidance|cell adhesion|cell-cell junction assembly|cellular component movement|cytoskeletal anchoring at plasma membrane|muscle contraction|platelet activation|platelet degranulation	actin cytoskeleton|centrosome|cytosol|extracellular region|focal adhesion|intracellular membrane-bounded organelle|ruffle membrane	actin binding|insulin receptor binding|LIM domain binding|structural constituent of cytoskeleton|vinculin binding	g.chr9:35714817G>A	AB028950	CCDS35009.1	9p23-p21	2008-02-05			ENSG00000137076	ENSG00000137076			11845	protein-coding gene	gene with protein product		186745		TLN		7635475, 10610730	Standard	NM_006289		Approved	ILWEQ	uc003zxt.2	Q9Y490	OTTHUMG00000019874	ENST00000314888.9:c.2811C>T	9.37:g.35714817G>A						TLN1_ENST00000540444.1_Silent_p.H937H	p.H937H	NM_006289.3	NP_006280.3	Q9Y490	TLN1_HUMAN	Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)		22	3164	-	all_epithelial(49;0.167)		937					A6NMY0|Q86YD0|Q9NZQ2|Q9UHH8|Q9UPX3	Silent	SNP	ENST00000314888.9	37	c.2811C>T	CCDS35009.1																																																																																				0.607	TLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052353.2	NM_006289		4	57	0	0	0	1	0	4	57					A	35714817	G	A	35714817	2	1	435	1	0	0	0	0	0	0	0	1	15944	1136	40	1		1	TLN1	9	35714817	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	7361	35714817	105498614	4266	25191											
TLN1	7094	broad.mit.edu	37	chr9	35716542	35716542	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggccaggatgcgggcctgtcGcaccatctcccctgagagca	7	6	13	15	2	1	1	0	1	1	1	3	3	1	2	5	3	2	2	5	3	0	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:35716542G>A	ENST00000314888.9	-	20	2823	c.2470C>T	c.(2470-2472)Cga>Tga	p.R824*	TLN1_ENST00000540444.1_Nonsense_Mutation_p.R824*	NM_006289.3	NP_006280.3	Q9Y490	TLN1_HUMAN	talin 1	824				R -> G (in Ref. 1; AAD13152 and 2; AAF23322). {ECO:0000305}.	activation of signaling protein activity involved in unfolded protein response (GO:0006987)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-cell junction assembly (GO:0007043)|cell-substrate junction assembly (GO:0007044)|cellular component movement (GO:0006928)|cellular protein metabolic process (GO:0044267)|cortical actin cytoskeleton organization (GO:0030866)|cytoskeletal anchoring at plasma membrane (GO:0007016)|endoplasmic reticulum unfolded protein response (GO:0030968)|muscle contraction (GO:0006936)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|microtubule organizing center (GO:0005815)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	integrin binding (GO:0005178)|LIM domain binding (GO:0030274)|structural constituent of cytoskeleton (GO:0005200)|vinculin binding (GO:0017166)			NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6)	85	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			CGGGCCTGTCGCACCATCTCC	0.582																																						ENST00000314888.9																			0				NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6)	85						c.(2470-2472)Cga>Tga		talin 1							80	74	76					9																	35716542		2203	4300	6503	SO:0001587	stop_gained	7094				axon guidance|cell adhesion|cell-cell junction assembly|cellular component movement|cytoskeletal anchoring at plasma membrane|muscle contraction|platelet activation|platelet degranulation	actin cytoskeleton|centrosome|cytosol|extracellular region|focal adhesion|intracellular membrane-bounded organelle|ruffle membrane	actin binding|insulin receptor binding|LIM domain binding|structural constituent of cytoskeleton|vinculin binding	g.chr9:35716542G>A	AB028950	CCDS35009.1	9p23-p21	2008-02-05			ENSG00000137076	ENSG00000137076			11845	protein-coding gene	gene with protein product		186745		TLN		7635475, 10610730	Standard	NM_006289		Approved	ILWEQ	uc003zxt.2	Q9Y490	OTTHUMG00000019874	ENST00000314888.9:c.2470C>T	9.37:g.35716542G>A	ENSP00000316029:p.Arg824*					TLN1_ENST00000540444.1_Nonsense_Mutation_p.R824*	p.R824*	NM_006289.3	NP_006280.3	Q9Y490	TLN1_HUMAN	Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)		20	2823	-	all_epithelial(49;0.167)		824	R -> G (in Ref. 1; AAD13152 and 2; AAF23322).				A6NMY0|Q86YD0|Q9NZQ2|Q9UHH8|Q9UPX3	Nonsense_Mutation	SNP	ENST00000314888.9	37	c.2470C>T	CCDS35009.1	.	.	.	.	.	.	.	.	.	.	G	44	10.919267	0.99489	.	.	ENSG00000137076	ENST00000314888;ENST00000540444	.	.	.	6.06	5.16	0.70880	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-5.7081	16.8149	0.85732	0.0:0.0:0.8702:0.1298	.	.	.	.	X	824	.	ENSP00000316029:R824X	R	-	1	2	TLN1	35706542	1.000000	0.71417	0.983000	0.44433	0.998000	0.95712	5.521000	0.67086	1.551000	0.49450	0.655000	0.94253	CGA		0.582	TLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052353.2	NM_006289		27	43	0	0	0	1	0	27	43					A	35716542	G	A	35716542	4	1	435	1	0	0	0	0	0	1	0	0	15944	1095	38	1	5307	1	TLN1	9	35716542	Nonsense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	1725	35716542	105496889	4267	25192											
CREB3	7094	broad.mit.edu	37	chr9	35733078	35733078	+	5'Flank	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cattctcagctcctccaaccCctgccttgtccaccatgacc	7	10	4	20	0	1	1	1	1	1	0	5	1	4	1	8	0	3	1	8	0	1	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:35733078C>T	ENST00000314888.9	-	0	0				TLN1_ENST00000540444.1_5'Flank|CREB3_ENST00000353704.2_Missense_Mutation_p.P72L|CREB3_ENST00000486056.1_3'UTR	NM_006289.3	NP_006280.3	Q9Y490	TLN1_HUMAN	talin 1						activation of signaling protein activity involved in unfolded protein response (GO:0006987)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-cell junction assembly (GO:0007043)|cell-substrate junction assembly (GO:0007044)|cellular component movement (GO:0006928)|cellular protein metabolic process (GO:0044267)|cortical actin cytoskeleton organization (GO:0030866)|cytoskeletal anchoring at plasma membrane (GO:0007016)|endoplasmic reticulum unfolded protein response (GO:0030968)|muscle contraction (GO:0006936)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|microtubule organizing center (GO:0005815)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	integrin binding (GO:0005178)|LIM domain binding (GO:0030274)|structural constituent of cytoskeleton (GO:0005200)|vinculin binding (GO:0017166)			NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6)	85	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			TCCTCCAACCCCTGCCTTGTC	0.557																																						ENST00000353704.2																			0				endometrium(1)|kidney(2)|large_intestine(3)|lung(2)|urinary_tract(1)	9						c.(214-216)cCc>cTc		cAMP responsive element binding protein 3							141	138	139					9																	35733078		2203	4300	6503	SO:0001631	upstream_gene_variant	10488				chemotaxis|induction of positive chemotaxis|interspecies interaction between organisms|negative regulation of cell cycle|positive regulation of calcium ion transport|positive regulation of cell migration|positive regulation of transcription, DNA-dependent|reactivation of latent virus|regulation of cell proliferation	cytosol|endoplasmic reticulum|endoplasmic reticulum membrane|Golgi apparatus|integral to membrane|nucleus	cAMP response element binding protein binding|CCR1 chemokine receptor binding|DNA binding|protein dimerization activity|protein homodimerization activity|sequence-specific DNA binding transcription factor activity	g.chr9:35733078C>T	AB028950	CCDS35009.1	9p23-p21	2008-02-05			ENSG00000137076	ENSG00000137076			11845	protein-coding gene	gene with protein product		186745		TLN		7635475, 10610730	Standard	NM_006289		Approved	ILWEQ	uc003zxt.2	Q9Y490	OTTHUMG00000019874		9.37:g.35733078C>T	Exception_encountered					CREB3_ENST00000486056.1_3'UTR	p.P72L	NM_006368.4	NP_006359.3	O43889	CREB3_HUMAN	Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)	GBM - Glioblastoma multiforme(74;0.0285)	2	653	+	all_epithelial(49;0.167)		72			Transcription activation (acidic).		A6NMY0|Q86YD0|Q9NZQ2|Q9UHH8|Q9UPX3	Missense_Mutation	SNP	ENST00000314888.9	37	c.215C>T	CCDS35009.1	.	.	.	.	.	.	.	.	.	.	c	13.47	2.245700	0.39697	.	.	ENSG00000107175	ENST00000353704	T	0.63913	-0.07	4.23	1.04	0.20106	.	0.702707	0.14081	N	0.342724	T	0.49558	0.1564	L	0.59436	1.845	0.09310	N	1	B	0.32829	0.386	B	0.27170	0.077	T	0.42749	-0.9433	10	0.49607	T	0.09	.	4.1595	0.10277	0.2095:0.4744:0.2327:0.0834	.	72	O43889-2	.	L	72	ENSP00000342136:P72L	ENSP00000342136:P72L	P	+	2	0	CREB3	35723078	0.000000	0.05858	0.002000	0.10522	0.291000	0.27294	0.966000	0.29331	0.363000	0.24346	0.580000	0.79431	CCC		0.557	TLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052353.2	NM_006289		16	30	0	0	0	1	0	16	30					T	35733078	C	T	35733078	1	4	435	0	1	0	0	0	0	0	0	0	3855	623	22	3		3	CREB3	9	35733078	5'Flank	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	16536	35733078	105480353	4268	25193											
GBA2	57704	broad.mit.edu	37	chr9	35740294	35740294	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcggcactggcctcgaggtcGcaacttgctggaaacacaca	10	6	12	13	3	0	0	0	0	0	0	2	2	0	1	1	4	3	3	1	4	2	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:35740294G>A	ENST00000378103.3	-	7	1718	c.1195C>T	c.(1195-1197)Cga>Tga	p.R399*	GBA2_ENST00000378088.1_5'Flank|GBA2_ENST00000467252.1_5'UTR|GBA2_ENST00000378094.4_Nonsense_Mutation_p.R399*|GBA2_ENST00000545786.1_Nonsense_Mutation_p.R405*	NM_020944.2	NP_065995.1	Q9HCG7	GBA2_HUMAN	glucosidase, beta (bile acid) 2	399					bile acid metabolic process (GO:0008206)|cell death (GO:0008219)|central nervous system neuron development (GO:0021954)|glucosylceramide catabolic process (GO:0006680)|glycoside catabolic process (GO:0016139)|glycosphingolipid metabolic process (GO:0006687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|smooth endoplasmic reticulum (GO:0005790)	beta-glucosidase activity (GO:0008422)|glucosylceramidase activity (GO:0004348)			NS(1)|kidney(3)|large_intestine(5)|lung(5)|ovary(4)|skin(3)	21	all_epithelial(49;0.167)		Lung(28;0.00416)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			CCTCGAGGTCGCAACTTGCTG	0.552																																						ENST00000378094.4																			0				NS(1)|kidney(3)|large_intestine(5)|lung(5)|ovary(4)|skin(3)	21						c.(1195-1197)Cga>Tga		glucosidase, beta (bile acid) 2							61	54	56					9																	35740294		2203	4300	6503	SO:0001587	stop_gained	57704				bile acid metabolic process|glucosylceramide catabolic process|O-glycoside catabolic process	integral to membrane|microsome|plasma membrane|smooth endoplasmic reticulum	beta-glucosidase activity|glucosylceramidase activity	g.chr9:35740294G>A	AJ309567	CCDS6589.1	9p13.2	2013-09-11			ENSG00000070610	ENSG00000070610			18986	protein-coding gene	gene with protein product	"bile acid beta-glucosidase", "non-lysosomal glucosylceramidase"	609471	"spastic paraplegia 46 (autosomal recessive)"	SPG46		11489889, 23332916, 23332917	Standard	NM_020944		Approved	KIAA1605, AD035, DKFZp762K054	uc003zxw.3	Q9HCG7	OTTHUMG00000021024	ENST00000378103.3:c.1195C>T	9.37:g.35740294G>A	ENSP00000367343:p.Arg399*					GBA2_ENST00000467252.1_5'UTR|GBA2_ENST00000378103.3_Nonsense_Mutation_p.R399*|GBA2_ENST00000545786.1_Nonsense_Mutation_p.R405*	p.R399*			Q9HCG7	GBA2_HUMAN	Lung(28;0.00416)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)		7	1708	-	all_epithelial(49;0.167)		399					D3DRP2|Q5TCV6|Q96A51|Q96LY1|Q96SJ2|Q9H2L8	Nonsense_Mutation	SNP	ENST00000378103.3	37	c.1195C>T	CCDS6589.1	.	.	.	.	.	.	.	.	.	.	G	41	8.906868	0.98998	.	.	ENSG00000070610	ENST00000378103;ENST00000378094;ENST00000545786	.	.	.	5.6	3.75	0.43078	.	0.503444	0.23396	N	0.048623	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.10902	T	0.67	-0.7864	11.8012	0.52128	0.1463:0.0:0.8537:0.0	.	.	.	.	X	399;399;405	.	ENSP00000367334:R399X	R	-	1	2	GBA2	35730294	1.000000	0.71417	0.988000	0.46212	0.963000	0.63663	1.243000	0.32767	0.824000	0.34613	0.650000	0.86243	CGA		0.552	GBA2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000055456.1	NM_020944		18	23	0	0	0	1	0	18	23					A	35740294	G	A	35740294	4	1	435	1	0	0	0	0	0	1	0	0	6267	1095	38	1	1632	1	GBA2	9	35740294	Nonsense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	7216	35740294	105473137	4269	25194											
NPR2	4882	broad.mit.edu	37	chr9	35807107	35807107	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacttcagtgacattgttggCttcacagcattgtcagcaga	10	13	9	9	0	3	2	3	1	0	1	3	2	3	2	0	1	3	4	0	1	1	6			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:35807107C>T	ENST00000342694.2	+	17	2862	c.2607C>T	c.(2605-2607)ggC>ggT	p.G869G	SPAG8_ENST00000479751.1_5'Flank	NM_003995.3	NP_003986.2	P20594	ANPRB_HUMAN	natriuretic peptide receptor 2	869	Guanylate cyclase. {ECO:0000255|PROSITE- ProRule:PRU00099}.				bone development (GO:0060348)|cell surface receptor signaling pathway (GO:0007166)|cellular response to granulocyte macrophage colony-stimulating factor stimulus (GO:0097011)|cGMP biosynthetic process (GO:0006182)|intracellular signal transduction (GO:0035556)|negative regulation of meiotic cell cycle (GO:0051447)|negative regulation of oocyte maturation (GO:1900194)|ossification (GO:0001503)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of blood pressure (GO:0008217)|signal transduction (GO:0007165)|single organism reproductive process (GO:0044702)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|hormone binding (GO:0042562)|natriuretic peptide receptor activity (GO:0016941)|peptide hormone binding (GO:0017046)|protein kinase activity (GO:0004672)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(2)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	45	all_epithelial(49;0.161)		LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194)		Erythrityl Tetranitrate(DB01613)|Nesiritide(DB04899)	ACATTGTTGGCTTCACAGCAT	0.557																																						ENST00000342694.2																			0				NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(2)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	45						c.(2605-2607)ggC>ggT		natriuretic peptide receptor B/guanylate cyclase B (atrionatriuretic peptide receptor B)	Erythrityl Tetranitrate(DB01613)|Nesiritide(DB04899)						97	84	88					9																	35807107		2203	4300	6503	SO:0001819	synonymous_variant	4882				intracellular signal transduction|ossification|receptor guanylyl cyclase signaling pathway|regulation of blood pressure	integral to membrane|plasma membrane	GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|protein kinase activity|transmembrane receptor activity	g.chr9:35807107C>T	AJ005282	CCDS6590.1	9p21-p12	2014-03-03	2014-03-03		ENSG00000159899	ENSG00000159899			7944	protein-coding gene	gene with protein product	"guanylate cyclase B"	108961	"acromesomelic dysplasia, Maroteaux type", "atrionatriuretic peptide receptor B", "natriuretic peptide receptor B"	ANPRB, NPRB, AMDM		9634515, 15146390	Standard	XM_005251478		Approved	GUCY2B, ANPb	uc003zyd.3	P20594	OTTHUMG00000019871	ENST00000342694.2:c.2607C>T	9.37:g.35807107C>T							p.G869G	NM_003995.3	NP_003986.2	P20594	ANPRB_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194)		17	2862	+	all_epithelial(49;0.161)		869			Guanylate cyclase.		B0ZBF2|B0ZBF3|D3DRP3|D3DRP4|O60871|Q4VAK7|Q5TCV2|Q8TA93|Q9UQ50	Silent	SNP	ENST00000342694.2	37	c.2607C>T	CCDS6590.1	.	.	.	.	.	.	.	.	.	.	C	6.454	0.451950	0.12283	.	.	ENSG00000159899	ENST00000421267	.	.	.	6.17	6.17	0.99709	.	.	.	.	.	T	0.71728	0.3374	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.68432	-0.5410	4	.	.	.	.	14.9956	0.71428	0.0:0.8579:0.1421:0.0	.	.	.	.	V	216	.	.	A	+	2	0	NPR2	35797107	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.212000	0.32394	2.941000	0.99782	0.655000	0.94253	GCT		0.557	NPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052345.1			21	27	0	0	0	1	0	21	27					T	35807107	C	T	35807107	2	4	435	1	0	0	0	0	0	0	0	1	10595	784	28	3		3	NPR2	9	35807107	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	66813	35807107	105406324	4270	25195											
OR2S2	56656	broad.mit.edu	37	chr9	35957181	35957181	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agcagtctcctcacagcagcCttcacatccttgttcctcag	8	11	6	16	0	4	0	3	0	1	0	7	0	6	0	4	0	3	3	4	0	0	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:35957181C>A	ENST00000341959.2	-	1	970	c.915G>T	c.(913-915)aaG>aaT	p.K305N		NM_019897.2	NP_063950.2	Q9NQN1	OR2S1_HUMAN	olfactory receptor, family 2, subfamily S, member 2	305					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(8)|ovary(1)|skin(1)|stomach(1)	17			LUSC - Lung squamous cell carcinoma(32;0.00613)|STAD - Stomach adenocarcinoma(86;0.194)			TCACAGCAGCCTTCACATCCT	0.493																																					Pancreas(172;293 2036 17878 24427 30946)	ENST00000341959.2																			0				central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(8)|ovary(1)|skin(1)|stomach(1)	17						c.(913-915)aaG>aaT		olfactory receptor, family 2, subfamily S, member 2							92	87	89					9																	35957181		2203	4300	6503	SO:0001583	missense	56656				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:35957181C>A	AL135841	CCDS6596.2	9p13.3	2012-08-09			ENSG00000122718	ENSG00000122718		"GPCR / Class A : Olfactory receptors"	8276	protein-coding gene	gene with protein product							Standard	NM_019897		Approved		uc011lpi.2	Q9NQN1	OTTHUMG00000019891	ENST00000341959.2:c.915G>T	9.37:g.35957181C>A	ENSP00000344040:p.Lys305Asn						p.K305N	NM_019897.2	NP_063950.2	Q9NQN1	OR2S1_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00613)|STAD - Stomach adenocarcinoma(86;0.194)		1	970	-			305					Q2M3L0|Q6IF19|Q96R42	Missense_Mutation	SNP	ENST00000341959.2	37	c.915G>T	CCDS6596.2	.	.	.	.	.	.	.	.	.	.	C	5.803	0.332540	0.10956	.	.	ENSG00000122718	ENST00000341959	T	0.40756	1.02	4.14	1.21	0.21127	.	0.000000	0.51477	D	0.000088	T	0.35941	0.0949	M	0.71920	2.185	0.18873	N	0.999988	B	0.30889	0.299	B	0.31337	0.128	T	0.35919	-0.9769	10	0.66056	D	0.02	.	3.3677	0.07210	0.181:0.527:0.0:0.292	.	305	Q9NQN1	OR2S1_HUMAN	N	305	ENSP00000344040:K305N	ENSP00000344040:K305N	K	-	3	2	OR2S2	35947181	0.000000	0.05858	0.218000	0.23776	0.168000	0.22595	-0.247000	0.08866	0.274000	0.22072	-0.187000	0.12897	AAG		0.493	OR2S2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052400.2	NM_019897		35	46	1	0	4.46736e-08	1	4.70435e-08	35	46					A	35957181	C	A	35957181	3	1	435	1	0	0	0	0	1	0	0	0	11015	680	24	5	48	5	OR2S2	9	35957181	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	150074	35957181	105256250	4271	25196											
RECK	8434	broad.mit.edu	37	chr9	36087701	36087701	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gaaaatgtaggtttatattgCtgtgacagagctgaagacca	14	11	11	5	0	0	4	0	2	0	2	0	5	0	4	1	1	2	4	1	1	6	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:36087701C>T	ENST00000377966.3	+	9	1214	c.648C>T	c.(646-648)tgC>tgT	p.C216C		NM_021111.2	NP_066934.1	O95980	RECK_HUMAN	reversion-inducing-cysteine-rich protein with kazal motifs	216	5 X Knot repeats.				blood vessel maturation (GO:0001955)|embryo implantation (GO:0007566)|extracellular matrix organization (GO:0030198)|negative regulation of endopeptidase activity (GO:0010951)	anchored component of membrane (GO:0031225)|membrane (GO:0016020)|plasma membrane (GO:0005886)	endopeptidase inhibitor activity (GO:0004866)|metalloendopeptidase inhibitor activity (GO:0008191)|serine-type endopeptidase inhibitor activity (GO:0004867)			cervix(1)|endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	32			LUSC - Lung squamous cell carcinoma(32;0.112)|STAD - Stomach adenocarcinoma(86;0.228)			GTTTATATTGCTGTGACAGAG	0.373																																						ENST00000377966.3																			0				cervix(1)|endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	32						c.(646-648)tgC>tgT		reversion-inducing-cysteine-rich protein with kazal motifs							76	75	75					9																	36087701		2203	4300	6503	SO:0001819	synonymous_variant	8434					anchored to membrane|peripheral to membrane of membrane fraction|plasma membrane	metalloendopeptidase inhibitor activity|serine-type endopeptidase inhibitor activity	g.chr9:36087701C>T	E13833	CCDS6597.1	9p13.3	2008-05-15			ENSG00000122707	ENSG00000122707			11345	protein-coding gene	gene with protein product		605227		ST15		9789069	Standard	NM_021111		Approved	hRECK	uc003zyv.3	O95980	OTTHUMG00000019898	ENST00000377966.3:c.648C>T	9.37:g.36087701C>T							p.C216C	NM_021111.2	NP_066934.1	O95980	RECK_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.112)|STAD - Stomach adenocarcinoma(86;0.228)		9	1214	+			216			5 X Knot repeats.		B2RNS1|Q5W0K6|Q8WX37	Silent	SNP	ENST00000377966.3	37	c.648C>T	CCDS6597.1																																																																																				0.373	RECK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052409.1			17	28	0	0	0	1	0	17	28					T	36087701	C	T	36087701	2	4	435	1	0	0	0	0	0	0	0	1	13200	805	28	3		3	RECK	9	36087701	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	130520	36087701	105125730	4272	25197											
GLIPR2	152007	broad.mit.edu	37	chr9	36162402	36162402	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagaacaccaagaagatgggCgtggggaaggcgtccgcaag	14	3	16	8	3	0	3	0	0	0	3	1	4	1	4	2	4	1	1	2	4	6	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:36162402C>T	ENST00000377960.4	+	5	382	c.348C>T	c.(346-348)ggC>ggT	p.G116G	GLIPR2_ENST00000474050.1_3'UTR|GLIPR2_ENST00000396613.3_3'UTR|GLIPR2_ENST00000377959.1_Silent_p.G90G	NM_022343.2	NP_071738.1	Q9H4G4	GAPR1_HUMAN	GLI pathogenesis-related 2	116	SCP.			TGHFTAMVWKNTKKMGVGKASASDGSSFVVARYFPAGNVVN EGFFEENVLPPKK -> IRFFFFNFLLFLSKPLLYFSYF (in Ref. 3; BAC11019). {ECO:0000305}.	positive regulation of epithelial cell migration (GO:0010634)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)	protein homodimerization activity (GO:0042803)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|skin(3)	10						AGAAGATGGGCGTGGGGAAGG	0.562																																						ENST00000377960.4																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|skin(3)	10						c.(346-348)ggC>ggT		GLI pathogenesis-related 2							184	155	165					9																	36162402		2203	4300	6503	SO:0001819	synonymous_variant	152007					extracellular region|Golgi membrane		g.chr9:36162402C>T	AY039756	CCDS6598.1, CCDS69595.1, CCDS75832.1, CCDS75833.1	9p13.3	2008-08-15	2008-08-15	2008-08-15	ENSG00000122694	ENSG00000122694			18007	protein-coding gene	gene with protein product		607141	"chromosome 9 open reading frame 19"	C9orf19		12137952, 11865038	Standard	NM_022343		Approved	GAPR-1	uc003zyz.3	Q9H4G4	OTTHUMG00000019900	ENST00000377960.4:c.348C>T	9.37:g.36162402C>T						GLIPR2_ENST00000396613.3_3'UTR|GLIPR2_ENST00000474050.1_3'UTR|GLIPR2_ENST00000377959.1_Silent_p.G90G	p.G116G	NM_022343.2	NP_071738.1	Q9H4G4	GAPR1_HUMAN			5	382	+			116	TGHFTAMVWKNTKKMGVGKASASDGSSFVVARYFPAGNVVN EGFFEENVLPPKK -> IRFFFFNFLLFLSKPLLYFSYF (in Ref. 3; BAC11019).				Q5VZR1|Q8N2S6|Q8WWC9|Q8WX36	Silent	SNP	ENST00000377960.4	37	c.348C>T	CCDS6598.1																																																																																				0.562	GLIPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052414.1	NM_022343		14	37	0	0	0	1	0	14	37					T	36162402	C	T	36162402	2	4	435	1	0	0	0	0	0	0	0	1	6444	755	27	1		1	GLIPR2	9	36162402	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	74701	36162402	105051029	4273	25198											
GNE	10020	broad.mit.edu	37	chr9	36246342	36246342	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcatgatatcaggcttcaggCgattaaggacatctggcagc	11	10	11	9	1	4	1	3	1	1	0	4	3	4	2	0	4	1	2	0	4	2	3	rs144727134		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:36246342C>T	ENST00000539815.1	-	2	342	c.302G>A	c.(301-303)cGc>cAc	p.R101H	GNE_ENST00000543356.2_Missense_Mutation_p.R96H|GNE_ENST00000396594.3_Missense_Mutation_p.R132H|GNE_ENST00000377902.5_Missense_Mutation_p.R101H|GNE_ENST00000447283.2_Missense_Mutation_p.R101H|GNE_ENST00000539208.1_Missense_Mutation_p.R42H			Q9Y223	GLCNE_HUMAN	glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase	101					carbohydrate phosphorylation (GO:0046835)|cell adhesion (GO:0007155)|N-acetylglucosamine biosynthetic process (GO:0006045)|N-acetylneuraminate metabolic process (GO:0006054)|UDP-N-acetylglucosamine metabolic process (GO:0006047)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)|metal ion binding (GO:0046872)|N-acylmannosamine kinase activity (GO:0009384)|UDP-N-acetylglucosamine 2-epimerase activity (GO:0008761)			endometrium(8)|kidney(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	19			STAD - Stomach adenocarcinoma(86;0.228)			AGGCTTCAGGCGATTAAGGAC	0.502																																					GBM(184;106 2118 20004 35750 50727)	ENST00000396594.3																			0				endometrium(8)|kidney(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(394-396)cGc>cAc		glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase		C	HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	75	66	69		395,302,125,287,302	5.6	1	9	dbSNP_134	69	0,8600		0,0,4300	no	missense,missense,missense,missense,missense	GNE	NM_001128227.2,NM_001190383.1,NM_001190384.1,NM_001190388.1,NM_005476.5	29,29,29,29,29	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	132/754,101/649,42/613,96/718,101/723	36246342	1,13005	2203	4300	6503	SO:0001583	missense	10020				cell adhesion|lipopolysaccharide biosynthetic process|N-acetylneuraminate metabolic process|UDP-N-acetylglucosamine metabolic process		ATP binding|N-acylmannosamine kinase activity|UDP-N-acetylglucosamine 2-epimerase activity	g.chr9:36246342C>T	AF051852	CCDS6602.1, CCDS47965.1, CCDS55308.1, CCDS55309.1, CCDS55310.1	9p13.1	2008-02-05	2003-12-01		ENSG00000159921	ENSG00000159921			23657	protein-coding gene	gene with protein product		603824	"UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase"	IBM2		9305887, 9305888	Standard	NM_005476		Approved	Uae1	uc010mli.3	Q9Y223	OTTHUMG00000019899	ENST00000539815.1:c.302G>A	9.37:g.36246342C>T	ENSP00000439155:p.Arg101His					GNE_ENST00000539208.1_Missense_Mutation_p.R42H|GNE_ENST00000447283.2_Missense_Mutation_p.R101H|GNE_ENST00000539815.1_Missense_Mutation_p.R101H|GNE_ENST00000543356.2_Missense_Mutation_p.R96H|GNE_ENST00000377902.5_Missense_Mutation_p.R101H	p.R132H	NM_001128227.2	NP_001121699.1	Q9Y223	GLCNE_HUMAN	STAD - Stomach adenocarcinoma(86;0.228)		3	506	-			101		H -> Q (in NM).			A6PZH2|A6PZH3|A7UNU7|B2R6E1|B7Z372|B7Z428|D3DRP7|F5H499|H0YFA7|Q0VA94	Missense_Mutation	SNP	ENST00000539815.1	37	c.395G>A	CCDS6602.1	.	.	.	.	.	.	.	.	.	.	C	28.5	4.928961	0.92389	2.27E-4	0.0	ENSG00000159921	ENST00000377902;ENST00000396594;ENST00000339267;ENST00000539815;ENST00000543356;ENST00000539208;ENST00000447283	D;D;D;D;D	0.99282	-5.68;-5.68;-5.68;-5.68;-5.68	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	D	0.99263	0.9743	M	0.73217	2.22	0.80722	D	1	D;D;D;D;D	0.76494	0.998;0.999;0.998;0.999;0.999	P;D;P;D;D	0.68943	0.906;0.934;0.861;0.961;0.943	D	0.99486	1.0949	10	0.59425	D	0.04	-13.2369	17.0847	0.86608	0.0:1.0:0.0:0.0	.	42;60;132;101;101	F5H499;Q9Y223-3;Q9Y223-2;Q9Y223;A7UNU7	.;.;.;GLCNE_HUMAN;.	H	101;132;96;101;73;42;101	ENSP00000367134:R101H;ENSP00000379839:R132H;ENSP00000439155:R101H;ENSP00000445117:R42H;ENSP00000414760:R101H	ENSP00000340770:R96H	R	-	2	0	GNE	36236342	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.143000	0.77348	2.627000	0.88993	0.467000	0.42956	CGC		0.502	GNE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052412.4	NM_005476		20	30	0	0	0	1	0	20	30					T	36246342	C	T	36246342	3	4	435	1	0	0	0	0	1	0	0	0	6522	768	27	1	1906	1	GNE	9	36246342	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	83940	36246342	104967089	4274	25199											
RNF38	152006	broad.mit.edu	37	chr9	36351115	36351115	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acaattcatctactaacctcGtaattttctacttctccatc	11	16	1	13	1	4	0	1	0	3	0	7	0	4	0	2	0	3	1	2	0	5	8	rs369087477		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:36351115G>A	ENST00000259605.6	-	9	1367	c.1260C>T	c.(1258-1260)taC>taT	p.Y420Y	RNF38_ENST00000357058.3_Silent_p.Y337Y|RNF38_ENST00000377877.4_Silent_p.Y344Y|RNF38_ENST00000350199.4_Silent_p.Y337Y|RNF38_ENST00000377885.2_Silent_p.Y337Y|RNF38_ENST00000353739.4_Silent_p.Y370Y	NM_022781.4	NP_073618.3	Q9H0F5	RNF38_HUMAN	ring finger protein 38	420					male gonad development (GO:0008584)|protein ubiquitination (GO:0016567)	nucleus (GO:0005634)|sperm flagellum (GO:0036126)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|liver(1)|lung(3)|stomach(1)	11			STAD - Stomach adenocarcinoma(86;0.228)			TACTAACCTCGTAATTTTCTA	0.383																																						ENST00000357058.3																			0				breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|liver(1)|lung(3)|stomach(1)	11						c.(1009-1011)taC>taT		ring finger protein 38		G	,,,,	0,4406		0,0,2203	86	82	83		1260,1011,1110,1011,1011	-8.9	0.9	9		83	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	RNF38	NM_022781.4,NM_194328.2,NM_194329.2,NM_194330.2,NM_194332.2	,,,,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,,,,	420/516,337/433,370/466,337/433,337/433	36351115	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	152006						zinc ion binding	g.chr9:36351115G>A		CCDS6603.1, CCDS6604.1	9p	2013-01-09			ENSG00000137075	ENSG00000137075		"RING-type (C3HC4) zinc fingers"	18052	protein-coding gene	gene with protein product		612488					Standard	XM_005251364		Approved		uc003zzh.3	Q9H0F5	OTTHUMG00000019905	ENST00000259605.6:c.1260C>T	9.37:g.36351115G>A						RNF38_ENST00000259605.6_Silent_p.Y420Y|RNF38_ENST00000377885.2_Silent_p.Y337Y|RNF38_ENST00000353739.4_Silent_p.Y370Y|RNF38_ENST00000350199.4_Silent_p.Y337Y|RNF38_ENST00000377877.4_Silent_p.Y344Y	p.Y337Y	NM_194328.2	NP_919309.1	Q9H0F5	RNF38_HUMAN	STAD - Stomach adenocarcinoma(86;0.228)		9	1617	-			420			Pro-rich.		A6PVP9|B1AM81|B1AM82|B3KSG4|E7EVL3|Q7LB33|Q8N0Y0|Q9H748	Silent	SNP	ENST00000259605.6	37	c.1011C>T	CCDS6603.1																																																																																				0.383	RNF38-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000052422.3	NM_022781		5	7	0	0	0	1	0	5	7					A	36351115	G	A	36351115	2	1	435	1	0	0	0	0	0	0	0	1	13490	1140	40	1		1	RNF38	9	36351115	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	104773	36351115	104862316	4275	25200											
ZCCHC7	84186	broad.mit.edu	37	chr9	37304288	37304289	+	Frame_Shift_Ins	INS	-	-	A																															gacaaacgtggtcatttatcINSaaaaaactgccccttaccac																										TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:37304288_37304289insA	ENST00000336755.5	+	4	864_865	c.758_759insA	c.(757-762)tcaaaafs	p.SK253fs	ZCCHC7_ENST00000461038.1_3'UTR|ZCCHC7_ENST00000534928.1_5'UTR	NM_032226.2	NP_115602.2	Q8N3Z6	ZCHC7_HUMAN	zinc finger, CCHC domain containing 7	253						cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	30				GBM - Glioblastoma multiforme(29;0.0137)		GGTCATTTATCAAAAAACTGCC	0.431																																						ENST00000336755.5																			0				central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	30						c.(757-759)taafs		zinc finger, CCHC domain containing 7																																				SO:0001589	frameshift_variant	84186						nucleic acid binding|zinc ion binding	g.chr9:37304288_37304289insA	AK026264	CCDS6608.2	9p13.1	2008-05-02			ENSG00000147905	ENSG00000147905		"Zinc fingers, CCHC domain containing"	26209	protein-coding gene	gene with protein product							Standard	NM_032226		Approved	FLJ22611, AIR1	uc003zzq.3	Q8N3Z6	OTTHUMG00000019915	ENST00000336755.5:c.764dupA	9.37:g.37304294_37304294dupA	ENSP00000337839:p.Ser253fs					ZCCHC7_ENST00000461038.1_3'UTR|ZCCHC7_ENST00000534928.1_5'UTR	p.*253fs	NM_032226.2	NP_115602.2	Q8N3Z6	ZCHC7_HUMAN		GBM - Glioblastoma multiforme(29;0.0137)	4	864_865	+			253					B2RCI4|D3DRQ0|Q5T0Q8|Q5T0Q9|Q5T0R0|Q8N2M1|Q8N4J2|Q8TBK8|Q9H648|Q9P0F0	Frame_Shift_Ins	INS	ENST00000336755.5	37	c.758_759insA	CCDS6608.2																																																																																				0.431	ZCCHC7-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052453.2	NM_032226		38	69						38	69	---	---	---	---	A	37304289	-	A	37304288	7	5	435	1	0	1	1	0	0	0	0	0	17590	838	29	0	768	0	ZCCHC7	9	37304288	Frame_Shift_Ins	INS	-	TCGA-XK-AAIW-01A-11D-A41K-08	953173	37304288	103909143	4276	25201											
ZBTB5	9925	broad.mit.edu	37	chr9	37441732	37441732	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	actgttatcagactggctggGcacctgggcatcttcttgag	7	12	12	10	0	3	2	1	1	2	1	3	2	3	2	1	3	0	4	1	3	1	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:37441732G>A	ENST00000307750.4	-	2	1005	c.817C>T	c.(817-819)Ccc>Tcc	p.P273S		NM_014872.2	NP_055687.1	O15062	ZBTB5_HUMAN	zinc finger and BTB domain containing 5	273					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)	8				GBM - Glioblastoma multiforme(29;0.00733)|Lung(182;0.226)		GACTGGCTGGGCACCTGGGCA	0.473																																						ENST00000307750.4																			0				NS(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)	8						c.(817-819)Ccc>Tcc		zinc finger and BTB domain containing 5							70	75	74					9																	37441732		2203	4300	6503	SO:0001583	missense	9925				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:37441732G>A	AB002352	CCDS6610.1	9p13.1	2013-01-09			ENSG00000168795	ENSG00000168795		"-", "BTB/POZ domain containing", "Zinc fingers, C2H2-type"	23836	protein-coding gene	gene with protein product						9205841	Standard	NM_014872		Approved	KIAA0354	uc003zzx.3	O15062	OTTHUMG00000019918	ENST00000307750.4:c.817C>T	9.37:g.37441732G>A	ENSP00000307604:p.Pro273Ser						p.P273S	NM_014872.2	NP_055687.1	O15062	ZBTB5_HUMAN		GBM - Glioblastoma multiforme(29;0.00733)|Lung(182;0.226)	2	1005	-			273						Missense_Mutation	SNP	ENST00000307750.4	37	c.817C>T	CCDS6610.1	.	.	.	.	.	.	.	.	.	.	G	15.77	2.930798	0.52866	.	.	ENSG00000168795	ENST00000307750	T	0.37411	1.2	5.65	5.65	0.86999	.	0.058142	0.64402	D	0.000001	T	0.29288	0.0729	L	0.27053	0.805	0.54753	D	0.99998	B	0.18013	0.025	B	0.18263	0.021	T	0.06320	-1.0833	10	0.16896	T	0.51	.	19.9142	0.97043	0.0:0.0:1.0:0.0	.	273	O15062	ZBTB5_HUMAN	S	273	ENSP00000307604:P273S	ENSP00000307604:P273S	P	-	1	0	ZBTB5	37431732	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.894000	0.69806	2.941000	0.99782	0.655000	0.94253	CCC		0.473	ZBTB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052462.1	NM_014872		33	44	0	0	0	1	0	33	44					A	37441732	G	A	37441732	3	1	435	1	0	0	0	0	1	0	0	0	17548	1203	42	3	1220	3	ZBTB5	9	37441732	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	137444	37441732	103771699	4277	25202											
FBXO10	26267	broad.mit.edu	37	chr9	37541447	37541447	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cccaacactcagggtacgtcGttccctcctccggcggaata	8	8	9	16	4	1	0	1	0	0	0	5	1	4	1	4	3	2	2	4	3	4	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:37541447G>A	ENST00000432825.2	-	2	367	c.319C>T	c.(319-321)Cga>Tga	p.R107*	RP11-613M10.8_ENST00000537239.2_3'UTR|FBXO10_ENST00000541829.1_Intron|RP11-613M10.8_ENST00000544475.1_5'UTR	NM_012166.2	NP_036298.2	Q9UK96	FBX10_HUMAN	F-box protein 10	107					apoptotic process (GO:0006915)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of apoptotic process (GO:0042981)	cytoplasm (GO:0005737)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(5)|large_intestine(11)|lung(15)|prostate(1)|upper_aerodigestive_tract(1)	34				GBM - Glioblastoma multiforme(29;0.0107)		AGGGTACGTCGTTCCCTCCTC	0.552																																						ENST00000432825.2																			0				breast(1)|endometrium(5)|large_intestine(11)|lung(15)|prostate(1)|upper_aerodigestive_tract(1)	34						c.(319-321)Cga>Tga		F-box protein 10							89	90	90					9																	37541447		2057	4195	6252	SO:0001587	stop_gained	26267					ubiquitin ligase complex	ubiquitin-protein ligase activity	g.chr9:37541447G>A	AF174598	CCDS47966.1	9p13.1	2014-01-29	2004-06-15		ENSG00000147912	ENSG00000147912		"F-boxes /  "other""	13589	protein-coding gene	gene with protein product		609092	"F-box only protein 10"			10531035, 10531037, 19300908	Standard	NM_012166		Approved	FBX10	uc004aab.3	Q9UK96	OTTHUMG00000019926	ENST00000432825.2:c.319C>T	9.37:g.37541447G>A	ENSP00000403802:p.Arg107*					FBXO10_ENST00000541829.1_Intron|RP11-613M10.8_ENST00000537239.2_3'UTR|RP11-613M10.8_ENST00000544475.1_5'UTR	p.R107*	NM_012166.2	NP_036298.2	Q9UK96	FBX10_HUMAN		GBM - Glioblastoma multiforme(29;0.0107)	2	367	-			107					Q08AL3|Q08AL4|Q5JRT8|Q9UKC3	Nonsense_Mutation	SNP	ENST00000432825.2	37	c.319C>T	CCDS47966.1	.	.	.	.	.	.	.	.	.	.	G	10.36	1.329988	0.24167	.	.	ENSG00000147912	ENST00000432825	.	.	.	5.85	2.99	0.34606	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-20.2152	9.3656	0.38223	0.0685:0.0:0.6742:0.2573	.	.	.	.	X	107	.	ENSP00000276960:R107X	R	-	1	2	FBXO10	37531447	0.998000	0.40836	0.005000	0.12908	0.002000	0.02628	2.498000	0.45363	0.369000	0.24510	-0.907000	0.02831	CGA		0.552	FBXO10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052472.3			19	22	0	0	0	1	0	19	22					A	37541447	G	A	37541447	4	1	435	1	0	0	0	0	0	1	0	0	5726	1153	40	1	2591	1	FBXO10	9	37541447	Nonsense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	99715	37541447	103671984	4278	25203											
FRMPD1	22844	broad.mit.edu	37	chr9	37745710	37745710	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtccctccagaggggatcaaGgcagaggcacctaaccatgt	11	6	12	12	0	1	2	1	0	0	2	3	3	3	3	4	4	1	2	4	4	2	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:37745710G>T	ENST00000539465.1	+	16	4274	c.3681G>T	c.(3679-3681)aaG>aaT	p.K1227N	RP11-613M10.9_ENST00000540557.1_Intron|FRMPD1_ENST00000377765.3_Missense_Mutation_p.K1227N			Q5SYB0	FRPD1_HUMAN	FERM and PDZ domain containing 1	1227						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)				NS(3)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(34)|ovary(5)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	93				GBM - Glioblastoma multiforme(29;0.00655)		AGGGGATCAAGGCAGAGGCAC	0.507																																						ENST00000539465.1																			0				NS(3)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(34)|ovary(5)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	93						c.(3679-3681)aaG>aaT		FERM and PDZ domain containing 1							81	85	84					9																	37745710		2203	4300	6503	SO:0001583	missense	22844					cytoskeleton|cytosol|plasma membrane		g.chr9:37745710G>T	AB023184	CCDS6612.1	9p13.1	2008-02-05			ENSG00000070601	ENSG00000070601			29159	protein-coding gene	gene with protein product						10231032	Standard	NM_014907		Approved	KIAA0967, FRMD2	uc004aag.1	Q5SYB0	OTTHUMG00000019927	ENST00000539465.1:c.3681G>T	9.37:g.37745710G>T	ENSP00000444411:p.Lys1227Asn					RP11-613M10.9_ENST00000540557.1_Intron|FRMPD1_ENST00000377765.3_Missense_Mutation_p.K1227N	p.K1227N			Q5SYB0	FRPD1_HUMAN		GBM - Glioblastoma multiforme(29;0.00655)	16	4274	+			1227					B4DZC8|B7Z807|D3DRQ3|Q14C73|Q5HY96|Q9Y2H3	Missense_Mutation	SNP	ENST00000539465.1	37	c.3681G>T	CCDS6612.1	.	.	.	.	.	.	.	.	.	.	G	10.38	1.333670	0.24167	.	.	ENSG00000070601	ENST00000377765;ENST00000539465	T;T	0.08282	3.11;3.11	5.06	4.1	0.47936	.	0.437153	0.24762	N	0.035813	T	0.05593	0.0147	L	0.27053	0.805	0.54753	D	0.999989	B	0.33694	0.421	B	0.29785	0.107	T	0.47661	-0.9100	10	0.25751	T	0.34	-14.1681	8.3983	0.32570	0.1208:0.0:0.8792:0.0	.	1227	Q5SYB0	FRPD1_HUMAN	N	1227	ENSP00000366995:K1227N;ENSP00000444411:K1227N	ENSP00000366995:K1227N	K	+	3	2	FRMPD1	37735710	0.000000	0.05858	0.989000	0.46669	0.167000	0.22549	0.316000	0.19469	0.999000	0.39023	0.561000	0.74099	AAG		0.507	FRMPD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402969.1	NM_014907		22	27	1	0	2.70639e-06	1	2.81266e-06	22	27					T	37745710	G	T	37745710	3	4	435	1	0	0	0	0	1	0	0	0	6057	991	35	5	3739	5	FRMPD1	9	37745710	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	204263	37745710	103467721	4279	25204											
FRMPD1	22844	broad.mit.edu	37	chr9	37746200	37746200	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gagcccacagctgcaccaccGcacccctgtcgaggaaaagc	11	3	10	17	2	0	0	0	0	0	0	1	3	0	1	5	1	4	3	5	1	2	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:37746200G>A	ENST00000539465.1	+	16	4764	c.4171G>A	c.(4171-4173)Gca>Aca	p.A1391T	RP11-613M10.9_ENST00000540557.1_Intron|FRMPD1_ENST00000377765.3_Missense_Mutation_p.A1391T			Q5SYB0	FRPD1_HUMAN	FERM and PDZ domain containing 1	1391						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)		p.A1391T(1)		NS(3)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(34)|ovary(5)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	93				GBM - Glioblastoma multiforme(29;0.00655)		CTGCACCACCGCACCCCTGTC	0.662																																						ENST00000539465.1																			1	Substitution - Missense(1)	p.A1391T(1)	kidney(1)	NS(3)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(34)|ovary(5)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	93						c.(4171-4173)Gca>Aca		FERM and PDZ domain containing 1							31	37	35					9																	37746200		2203	4300	6503	SO:0001583	missense	22844					cytoskeleton|cytosol|plasma membrane		g.chr9:37746200G>A	AB023184	CCDS6612.1	9p13.1	2008-02-05			ENSG00000070601	ENSG00000070601			29159	protein-coding gene	gene with protein product						10231032	Standard	NM_014907		Approved	KIAA0967, FRMD2	uc004aag.1	Q5SYB0	OTTHUMG00000019927	ENST00000539465.1:c.4171G>A	9.37:g.37746200G>A	ENSP00000444411:p.Ala1391Thr					RP11-613M10.9_ENST00000540557.1_Intron|FRMPD1_ENST00000377765.3_Missense_Mutation_p.A1391T	p.A1391T			Q5SYB0	FRPD1_HUMAN		GBM - Glioblastoma multiforme(29;0.00655)	16	4764	+			1391					B4DZC8|B7Z807|D3DRQ3|Q14C73|Q5HY96|Q9Y2H3	Missense_Mutation	SNP	ENST00000539465.1	37	c.4171G>A	CCDS6612.1	.	.	.	.	.	.	.	.	.	.	G	1.279	-0.610757	0.03690	.	.	ENSG00000070601	ENST00000377765;ENST00000539465	T;T	0.06608	3.28;3.28	5.3	4.39	0.52855	.	1.000500	0.08067	N	0.999257	T	0.03305	0.0096	N	0.08118	0	0.19575	N	0.999967	B	0.27679	0.185	B	0.17722	0.019	T	0.35375	-0.9791	10	0.17832	T	0.49	-1.3239	6.7298	0.23377	0.0936:0.1812:0.7251:0.0	.	1391	Q5SYB0	FRPD1_HUMAN	T	1391	ENSP00000366995:A1391T;ENSP00000444411:A1391T	ENSP00000366995:A1391T	A	+	1	0	FRMPD1	37736200	0.008000	0.16893	0.010000	0.14722	0.003000	0.03518	1.688000	0.37690	2.475000	0.83589	0.655000	0.94253	GCA		0.662	FRMPD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402969.1	NM_014907		31	6	0	0	0	1	0	31	6					A	37746200	G	A	37746200	3	1	435	1	0	0	0	0	1	0	0	0	6057	1087	38	1	4229	1	FRMPD1	9	37746200	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	490	37746200	103467231	4280	25205											
ALDH1B1	219	broad.mit.edu	37	chr9	38397186	38397186	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	acatcgtcacctgccacacgCcatttggagggtttaaggaa	11	9	10	11	2	1	0	1	0	0	0	2	2	1	2	3	3	1	1	3	3	2	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:38397186C>T	ENST00000377698.3	+	2	1594	c.1441C>T	c.(1441-1443)Cca>Tca	p.P481S		NM_000692.4	NP_000683.3	P30837	AL1B1_HUMAN	aldehyde dehydrogenase 1 family, member B1	481					carbohydrate metabolic process (GO:0005975)|ethanol catabolic process (GO:0006068)	intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	aldehyde dehydrogenase (NAD) activity (GO:0004029)			NS(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(1)|stomach(2)|urinary_tract(2)	32				GBM - Glioblastoma multiforme(29;0.043)|Lung(182;0.115)		CTGCCACACGCCATTTGGAGG	0.557																																						ENST00000377698.3																			0				NS(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(1)|stomach(2)|urinary_tract(2)	32						c.(1441-1443)Cca>Tca		aldehyde dehydrogenase 1 family, member B1	NADH(DB00157)						63	58	60					9																	38397186		2203	4300	6503	SO:0001583	missense	219				carbohydrate metabolic process	mitochondrial matrix|nucleus	aldehyde dehydrogenase (NAD) activity	g.chr9:38397186C>T	M63967	CCDS6615.1	9p13	2008-02-05			ENSG00000137124	ENSG00000137124	1.2.1.3	"Aldehyde dehydrogenases"	407	protein-coding gene	gene with protein product		100670		ALDH5		2061311	Standard	NM_000692		Approved	ALDHX	uc004aay.3	P30837	OTTHUMG00000019938	ENST00000377698.3:c.1441C>T	9.37:g.38397186C>T	ENSP00000366927:p.Pro481Ser						p.P481S	NM_000692.4	NP_000683.3	P30837	AL1B1_HUMAN		GBM - Glioblastoma multiforme(29;0.043)|Lung(182;0.115)	2	1594	+			481					B2R8F0|Q8WX76|Q9BV45	Missense_Mutation	SNP	ENST00000377698.3	37	c.1441C>T	CCDS6615.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.182735	0.78677	.	.	ENSG00000137124	ENST00000377698;ENST00000540055	T	0.80994	-1.44	5.85	5.85	0.93711	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, C-terminal (1);Aldehyde/histidinol dehydrogenase (1);	0.000000	0.64402	D	0.000007	D	0.92286	0.7553	M	0.92367	3.3	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.93537	0.6874	10	0.87932	D	0	.	17.6646	0.88200	0.0:1.0:0.0:0.0	.	481	P30837	AL1B1_HUMAN	S	481;182	ENSP00000366927:P481S	ENSP00000366927:P481S	P	+	1	0	ALDH1B1	38387186	0.991000	0.36638	0.405000	0.26409	0.984000	0.73092	4.306000	0.59117	2.761000	0.94854	0.655000	0.94253	CCA		0.557	ALDH1B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052492.1			7	24	0	0	0	1	0	7	24					T	38397186	C	T	38397186	3	4	435	1	0	0	0	0	1	0	0	0	493	739	26	3	1443	3	ALDH1B1	9	38397186	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	650986	38397186	102816245	4281	25206											
IGFBPL1	347252	broad.mit.edu	37	chr9	38414122	38414122	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgatgactggggtaggcacaGccctcacttcacaggacagg	10	7	13	11	0	2	2	2	2	0	0	2	3	2	3	1	5	1	2	1	5	1	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:38414122G>A	ENST00000377694.1	-	2	561	c.539C>T	c.(538-540)gCt>gTt	p.A180V		NM_001007563.1	NP_001007564.1	Q8WX77	IBPL1_HUMAN	insulin-like growth factor binding protein-like 1	180	Ig-like C2-type.				regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)				endometrium(1)|lung(2)|upper_aerodigestive_tract(1)	4				GBM - Glioblastoma multiforme(29;0.0437)|Lung(182;0.116)		GGTAGGCACAGCCCTCACTTC	0.557																																						ENST00000377694.1																			0				endometrium(1)|lung(2)|upper_aerodigestive_tract(1)	4						c.(538-540)gCt>gTt		insulin-like growth factor binding protein-like 1							139	114	122					9																	38414122		2203	4300	6503	SO:0001583	missense	347252				regulation of cell growth	extracellular region	insulin-like growth factor binding	g.chr9:38414122G>A		CCDS35017.1	9p12	2013-01-11			ENSG00000137142	ENSG00000137142		"Immunoglobulin superfamily / I-set domain containing"	20081	protein-coding gene	gene with protein product		610413					Standard	NM_001007563		Approved	bA113O24.1	uc004aaz.3	Q8WX77	OTTHUMG00000019937	ENST00000377694.1:c.539C>T	9.37:g.38414122G>A	ENSP00000366923:p.Ala180Val						p.A180V	NM_001007563.1	NP_001007564.1	Q8WX77	IBPL1_HUMAN		GBM - Glioblastoma multiforme(29;0.0437)|Lung(182;0.116)	2	561	-			180			Ig-like C2-type.			Missense_Mutation	SNP	ENST00000377694.1	37	c.539C>T	CCDS35017.1	.	.	.	.	.	.	.	.	.	.	G	25.9	4.688767	0.88639	.	.	ENSG00000137142	ENST00000377694	T	0.68025	-0.3	5.02	5.02	0.67125	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.43747	U	0.000531	T	0.81842	0.4908	M	0.83852	2.665	0.39758	D	0.971985	D	0.71674	0.998	D	0.69824	0.966	D	0.85559	0.1226	10	0.87932	D	0	-0.008	13.8611	0.63561	0.0:0.0:1.0:0.0	.	180	Q8WX77	IBPL1_HUMAN	V	180	ENSP00000366923:A180V	ENSP00000366923:A180V	A	-	2	0	IGFBPL1	38404122	1.000000	0.71417	0.999000	0.59377	0.977000	0.68977	3.289000	0.51747	2.339000	0.79563	0.563000	0.77884	GCT		0.557	IGFBPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052491.1	XM_294567		16	30	0	0	0	1	0	16	30					A	38414122	G	A	38414122	3	1	435	1	0	0	0	0	1	0	0	0	7585	971	34	3	309	3	IGFBPL1	9	38414122	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	16936	38414122	102799309	4282	25207											
ZNF658	26149	broad.mit.edu	37	chr9	40774425	40774425	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aactttattgtattcaacagCggtggttttgtcacaggatg	10	15	10	6	1	2	0	2	0	0	0	2	1	2	1	0	3	3	2	0	3	4	7	rs144950113	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:40774425C>T	ENST00000602553.1	-	5	1144	c.850G>A	c.(850-852)Gct>Act	p.A284T	ZNF658_ENST00000441795.1_Missense_Mutation_p.A282T|ZNF658_ENST00000377626.3_Missense_Mutation_p.A284T			Q5TYW1	ZN658_HUMAN	zinc finger protein 658	284					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.A284T(1)		breast(3)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	46				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		TATTCAACAGCGGTGGTTTTG	0.388													C|||	9	0.00179712	0.0068	0	5008	,	,		18869	0		0	False		,,,				2504	0					ENST00000602553.1																			1	Substitution - Missense(1)	p.A284T(1)	endometrium(1)	breast(3)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	46						c.(850-852)Gct>Act		zinc finger protein 658							114	118	117					9																	40774425		2203	4297	6500	SO:0001583	missense	26149				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:40774425C>T	AA482262	CCDS75846.1	9p13.1	2013-01-08			ENSG00000196409	ENSG00000274349		"Zinc fingers, C2H2-type", "-"	25226	protein-coding gene	gene with protein product							Standard	NM_033160		Approved	MGC35232, DKFZp572C163, FLJ32813	uc004abs.2	Q5TYW1	OTTHUMG00000013392	ENST00000602553.1:c.850G>A	9.37:g.40774425C>T	ENSP00000473484:p.Ala284Thr					ZNF658_ENST00000377626.3_Missense_Mutation_p.A284T|ZNF658_ENST00000441795.1_Missense_Mutation_p.A282T	p.A284T			Q5TYW1	ZN658_HUMAN		GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)	5	1144	-			284					Q6PIP3|Q96M55|Q9H9S6|Q9UG02	Missense_Mutation	SNP	ENST00000602553.1	37	c.850G>A	CCDS35023.1	.	.	.	.	.	.	.	.	.	.	c	7.296	0.611957	0.14066	.	.	ENSG00000196409	ENST00000441795;ENST00000377626	T;T	0.05258	3.7;3.47	2.15	-3.32	0.04973	.	.	.	.	.	T	0.02727	0.0082	N	0.11106	0.095	0.09310	N	1	B;B	0.06786	0.0;0.001	B;B	0.01281	0.0;0.0	T	0.43410	-0.9393	9	0.62326	D	0.03	.	1.0757	0.01632	0.1893:0.1351:0.384:0.2916	.	284;284	Q5TYW1-2;Q5TYW1	.;ZN658_HUMAN	T	282;284	ENSP00000408462:A282T;ENSP00000366853:A284T	ENSP00000366853:A284T	A	-	1	0	ZNF658	40764425	0.000000	0.05858	0.000000	0.03702	0.148000	0.21650	0.071000	0.14594	-0.548000	0.06199	-0.770000	0.03390	GCT		0.388	ZNF658-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467800.1	NM_033160		53	80	0	0	0	1	0	53	80					T	40774425	C	T	40774425	3	4	435	1	0	0	0	0	1	0	0	0	18066	768	27	1	2333	1	ZNF658	9	40774425	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	2360303	40774425	100439006	4283	25208											
FAM75A6	389730	broad.mit.edu	37	chr9	43627062	43627062	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctagttgtttcctcaacaaaGgccattcagggtgctgagtt	9	13	10	9	0	2	1	2	1	0	0	3	1	3	1	2	2	2	4	2	2	3	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:43627062G>T	ENST00000332857.6	-	4	1653	c.1625C>A	c.(1624-1626)cCt>cAt	p.P542H	SPATA31A6_ENST00000496386.1_5'Flank	NM_001145196.1	NP_001138668.1	Q5VVP1	S31A6_HUMAN	SPATA31 subfamily A, member 6	542					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											CCTCAACAAAGGCCATTCAGG	0.483																																						ENST00000332857.6																			0											c.(1624-1626)cCt>cAt		SPATA31 subfamily A, member 6							6	7	6					9																	43627062		595	1504	2099	SO:0001583	missense	389730							g.chr9:43627062G>T		CCDS75837.1	9p11.2	2012-10-15	2012-10-12	2012-10-12	ENSG00000185775	ENSG00000185775			32006	protein-coding gene	gene with protein product			"family with sequence similarity 75, member A6"	FAM75A6		20850414	Standard	NM_001145196		Approved	OTTHUMG00000013224	uc011lrb.2	Q5VVP1	OTTHUMG00000013224	ENST00000332857.6:c.1625C>A	9.37:g.43627062G>T	ENSP00000329825:p.Pro542His						p.P542H	NM_001145196.1	NP_001138668.1					4	1653	-									Missense_Mutation	SNP	ENST00000332857.6	37	c.1625C>A	CCDS47973.1	.	.	.	.	.	.	.	.	.	.	G	1.995	-0.430926	0.04669	.	.	ENSG00000185775	ENST00000332857	T	0.07021	3.23	2.35	0.328	0.15918	.	0.584174	0.15689	N	0.249501	T	0.04679	0.0127	N	0.20685	0.6	0.09310	N	1	B	0.33044	0.395	B	0.31390	0.129	T	0.40553	-0.9557	10	0.33141	T	0.24	-3.9677	6.8931	0.24241	0.0:0.0:0.5069:0.493	.	542	Q5VVP1	F75A6_HUMAN	H	542	ENSP00000329825:P542H	ENSP00000329825:P542H	P	-	2	0	FAM75A6	43567058	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.164000	0.09983	0.097000	0.17492	-0.932000	0.02703	CCT		0.483	SPATA31A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036987.1	NM_001145196		6	254	1	0	0.000157383	1	0.000161063	6	254					T	43627062	G	T	43627062	3	4	435	1	0	0	0	0	1	0	0	0	5622	1000	35	5	2410	5	FAM75A6	9	43627062	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	2852637	43627062	97586369	4284	25209											
FAM75A6	389730	broad.mit.edu	37	chr9	43627507	43627507	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atctgagcacttctgaggtcCgggcagctgtttcgagttct	6	13	12	10	2	3	2	0	2	3	0	5	3	4	2	1	2	2	5	1	2	0	3	rs540283630	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:43627507C>T	ENST00000332857.6	-	4	1208	c.1180G>A	c.(1180-1182)Gga>Aga	p.G394R	SPATA31A6_ENST00000496386.1_5'Flank	NM_001145196.1	NP_001138668.1	Q5VVP1	S31A6_HUMAN	SPATA31 subfamily A, member 6	394					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											TTCTGAGGTCCGGGCAGCTGT	0.498													C|||	2	0.000399361	0	0.0029	5008	,	,		13270	0		0	False		,,,				2504	0					ENST00000332857.6																			0											c.(1180-1182)Gga>Aga		SPATA31 subfamily A, member 6							1	2	2					9																	43627507		405	1121	1526	SO:0001583	missense	389730							g.chr9:43627507C>T		CCDS75837.1	9p11.2	2012-10-15	2012-10-12	2012-10-12	ENSG00000185775	ENSG00000185775			32006	protein-coding gene	gene with protein product			"family with sequence similarity 75, member A6"	FAM75A6		20850414	Standard	NM_001145196		Approved	OTTHUMG00000013224	uc011lrb.2	Q5VVP1	OTTHUMG00000013224	ENST00000332857.6:c.1180G>A	9.37:g.43627507C>T	ENSP00000329825:p.Gly394Arg						p.G394R	NM_001145196.1	NP_001138668.1					4	1208	-									Missense_Mutation	SNP	ENST00000332857.6	37	c.1180G>A	CCDS47973.1	.	.	.	.	.	.	.	.	.	.	C	3.723	-0.057209	0.07317	.	.	ENSG00000185775	ENST00000332857	T	0.03745	3.82	2.5	-4.99	0.03010	.	1.889910	0.02325	N	0.073340	T	0.02156	0.0067	N	0.20685	0.6	0.09310	N	1	P	0.35242	0.492	B	0.29663	0.105	T	0.36187	-0.9758	10	0.23302	T	0.38	4.2557	3.0173	0.06064	0.3203:0.2558:0.0:0.4238	.	394	Q5VVP1	F75A6_HUMAN	R	394	ENSP00000329825:G394R	ENSP00000329825:G394R	G	-	1	0	FAM75A6	43567503	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.505000	0.00963	-1.556000	0.01695	-1.161000	0.01788	GGA		0.498	SPATA31A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036987.1	NM_001145196		96	119	0	0	0	1	0	96	119					T	43627507	C	T	43627507	3	4	435	1	0	0	0	0	1	0	0	0	5622	661	23	2	2855	2	FAM75A6	9	43627507	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	445	43627507	97585924	4285	25210											
FOXD4L3	286380	broad.mit.edu	37	chr9	70918906	70918906	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctgcgcagaatttgtcccCgaccgcgtggagctactgcc	6	8	13	14	4	0	1	0	0	0	1	1	3	1	2	4	2	4	3	4	2	2	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:70918906C>T	ENST00000342833.2	+	1	1631	c.1039C>T	c.(1039-1041)Cga>Tga	p.R347*		NM_199135.4	NP_954586.4	Q6VB84	FX4L3_HUMAN	forkhead box D4-like 3	347						nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			ovary(1)	1				all cancers(8;0.00136)|Epithelial(8;0.0288)|GBM - Glioblastoma multiforme(74;0.0402)|OV - Ovarian serous cystadenocarcinoma(323;0.18)		AATTTGTCCCCGACCGCGTGG	0.637																																						ENST00000342833.2																			0				ovary(1)	1						c.(1039-1041)Cga>Tga		forkhead box D4-like 3							74	97	89					9																	70918906		2201	4294	6495	SO:0001587	stop_gained	286380					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr9:70918906C>T	AY344642	CCDS43833.1	9q13	2008-05-13				ENSG00000187559			18523	protein-coding gene	gene with protein product		611086				12421752	Standard	NM_199135		Approved	OTTHUMG00000019959, FOXD6	uc004agm.1	Q6VB84	OTTHUMG00000019959	ENST00000342833.2:c.1039C>T	9.37:g.70918906C>T	ENSP00000341961:p.Arg347*						p.R347*	NM_199135.4	NP_954586.4	Q6VB84	FX4L3_HUMAN		all cancers(8;0.00136)|Epithelial(8;0.0288)|GBM - Glioblastoma multiforme(74;0.0402)|OV - Ovarian serous cystadenocarcinoma(323;0.18)	1	1631	+			347					Q5JTX9	Nonsense_Mutation	SNP	ENST00000342833.2	37	c.1039C>T	CCDS43833.1	.	.	.	.	.	.	.	.	.	.	.	40	8.172096	0.98688	.	.	ENSG00000187559	ENST00000342833	.	.	.	4.04	0.873	0.19118	.	0.216748	0.22176	U	0.063565	.	.	.	.	.	.	0.58432	D	0.999999	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	4.8752	0.13653	0.1726:0.6087:0.0:0.2187	.	.	.	.	X	347	.	ENSP00000341961:R347X	R	+	1	2	FOXD4L3	70108726	0.000000	0.05858	0.004000	0.12327	0.476000	0.33039	0.010000	0.13242	0.239000	0.21243	0.455000	0.32223	CGA		0.637	FOXD4L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052539.2	NM_199358		41	55	0	0	0	1	0	41	55					T	70918906	C	T	70918906	4	4	435	1	0	0	0	0	0	1	0	0	6001	644	23	2	1041	2	FOXD4L3	9	70918906	Nonsense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	27291399	70918906	70294525	4286	25211											
PGM5	5239	broad.mit.edu	37	chr9	71002484	71002484	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acccagccaactgaagattcGcattgacgcaatgcacggag	13	6	10	12	3	0	3	0	2	0	1	1	4	0	4	2	1	3	3	2	1	3	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:71002484G>A	ENST00000396396.1	+	4	906	c.677G>A	c.(676-678)cGc>cAc	p.R226H	PGM5_ENST00000396392.1_Missense_Mutation_p.R226H|PGM5_ENST00000604870.2_3'UTR	NM_021965.3	NP_068800.2	Q15124	PGM5_HUMAN	phosphoglucomutase 5	226					carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)	cell-cell adherens junction (GO:0005913)|costamere (GO:0043034)|cytoplasmic side of plasma membrane (GO:0009898)|dystrophin-associated glycoprotein complex (GO:0016010)|focal adhesion (GO:0005925)|intercalated disc (GO:0014704)|sarcolemma (GO:0042383)|spot adherens junction (GO:0005914)|stress fiber (GO:0001725)|Z disc (GO:0030018)	intramolecular transferase activity, phosphotransferases (GO:0016868)|magnesium ion binding (GO:0000287)|structural molecule activity (GO:0005198)			endometrium(5)|kidney(1)|large_intestine(5)|liver(2)|lung(15)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	34						CTGAAGATTCGCATTGACGCA	0.468																																						ENST00000396396.1																			0				endometrium(5)|kidney(1)|large_intestine(5)|liver(2)|lung(15)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	34						c.(676-678)cGc>cAc		phosphoglucomutase 5							111	95	101					9																	71002484		2203	4299	6502	SO:0001583	missense	5239				cell adhesion|cellular calcium ion homeostasis|glucose metabolic process	costamere|dystrophin-associated glycoprotein complex|focal adhesion|intercalated disc|internal side of plasma membrane|sarcolemma|spot adherens junction|stress fiber|Z disc	intramolecular transferase activity, phosphotransferases|magnesium ion binding|structural molecule activity	g.chr9:71002484G>A	L40933	CCDS6622.2	9q13	2008-02-05			ENSG00000154330	ENSG00000154330			8908	protein-coding gene	gene with protein product	"phosphoglucomutase-related protein"	600981				8586438, 8631316	Standard	NM_021965		Approved	PGMRP	uc004agr.3	Q15124	OTTHUMG00000019966	ENST00000396396.1:c.677G>A	9.37:g.71002484G>A	ENSP00000379678:p.Arg226His					PGM5_ENST00000396392.1_Missense_Mutation_p.R226H|PGM5_ENST00000604870.2_3'UTR	p.R226H	NM_021965.3	NP_068800.2	Q15124	PGM5_HUMAN			4	906	+			226					B1AM46|B4DLQ6|Q5VYV3|Q8N527|Q9UDH4	Missense_Mutation	SNP	ENST00000396396.1	37	c.677G>A	CCDS6622.2	.	.	.	.	.	.	.	.	.	.	.	9.345	1.063939	0.20067	.	.	ENSG00000154330	ENST00000396396;ENST00000396392;ENST00000377314;ENST00000431583	T;T;T	0.62639	0.01;0.01;0.01	5.03	5.03	0.67393	Alpha-D-phosphohexomutase, alpha/beta/alpha I/II/III (2);Alpha-D-phosphohexomutase, alpha/beta/alpha domain II (1);	0.060197	0.64402	U	0.000009	T	0.54481	0.1861	L	0.56340	1.77	0.58432	D	0.999993	P	0.37441	0.595	B	0.31812	0.136	T	0.54282	-0.8317	10	0.15066	T	0.55	.	17.186	0.86867	0.0:0.0:1.0:0.0	.	226	Q15124	PGM5_HUMAN	H	226;226;177;143	ENSP00000379678:R226H;ENSP00000379674:R226H;ENSP00000394864:R143H	ENSP00000366531:R177H	R	+	2	0	PGM5	70192304	1.000000	0.71417	0.918000	0.36340	0.513000	0.34164	6.261000	0.72509	2.330000	0.79161	0.466000	0.42574	CGC		0.468	PGM5-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052548.2	NM_021965		18	28	0	0	0	1	0	18	28					A	71002484	G	A	71002484	3	1	435	1	0	0	0	0	1	0	0	0	11801	1087	38	1	691	1	PGM5	9	71002484	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	83578	71002484	70210947	4287	25212											
PGM5	5239	broad.mit.edu	37	chr9	71144510	71144510	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgagccctctcatagccatcGcactgaaaatatcccagatt	12	10	6	13	1	1	3	1	2	1	1	4	3	2	3	3	0	2	1	3	0	4	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:71144510G>A	ENST00000396396.1	+	11	1871	c.1642G>A	c.(1642-1644)Gca>Aca	p.A548T		NM_021965.3	NP_068800.2	Q15124	PGM5_HUMAN	phosphoglucomutase 5	548					carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)	cell-cell adherens junction (GO:0005913)|costamere (GO:0043034)|cytoplasmic side of plasma membrane (GO:0009898)|dystrophin-associated glycoprotein complex (GO:0016010)|focal adhesion (GO:0005925)|intercalated disc (GO:0014704)|sarcolemma (GO:0042383)|spot adherens junction (GO:0005914)|stress fiber (GO:0001725)|Z disc (GO:0030018)	intramolecular transferase activity, phosphotransferases (GO:0016868)|magnesium ion binding (GO:0000287)|structural molecule activity (GO:0005198)			endometrium(5)|kidney(1)|large_intestine(5)|liver(2)|lung(15)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	34						CATAGCCATCGCACTGAAAAT	0.483																																						ENST00000396396.1																			0				endometrium(5)|kidney(1)|large_intestine(5)|liver(2)|lung(15)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	34						c.(1642-1644)Gca>Aca		phosphoglucomutase 5							58	51	53					9																	71144510		2203	4299	6502	SO:0001583	missense	5239				cell adhesion|cellular calcium ion homeostasis|glucose metabolic process	costamere|dystrophin-associated glycoprotein complex|focal adhesion|intercalated disc|internal side of plasma membrane|sarcolemma|spot adherens junction|stress fiber|Z disc	intramolecular transferase activity, phosphotransferases|magnesium ion binding|structural molecule activity	g.chr9:71144510G>A	L40933	CCDS6622.2	9q13	2008-02-05			ENSG00000154330	ENSG00000154330			8908	protein-coding gene	gene with protein product	"phosphoglucomutase-related protein"	600981				8586438, 8631316	Standard	NM_021965		Approved	PGMRP	uc004agr.3	Q15124	OTTHUMG00000019966	ENST00000396396.1:c.1642G>A	9.37:g.71144510G>A	ENSP00000379678:p.Ala548Thr						p.A548T	NM_021965.3	NP_068800.2	Q15124	PGM5_HUMAN			11	1871	+			548					B1AM46|B4DLQ6|Q5VYV3|Q8N527|Q9UDH4	Missense_Mutation	SNP	ENST00000396396.1	37	c.1642G>A	CCDS6622.2	.	.	.	.	.	.	.	.	.	.	G	34	5.405531	0.96051	.	.	ENSG00000154330	ENST00000396396	T	0.50548	0.74	5.66	5.66	0.87406	.	0.219299	0.47093	D	0.000254	T	0.68668	0.3026	M	0.81802	2.56	0.80722	D	1	D	0.76494	0.999	P	0.59643	0.861	T	0.72909	-0.4149	10	0.87932	D	0	.	18.5098	0.90911	0.0:0.0:1.0:0.0	.	548	Q15124	PGM5_HUMAN	T	548	ENSP00000379678:A548T	ENSP00000379678:A548T	A	+	1	0	PGM5	70334330	1.000000	0.71417	0.298000	0.25002	0.984000	0.73092	8.480000	0.90434	2.675000	0.91044	0.655000	0.94253	GCA		0.483	PGM5-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052548.2	NM_021965		13	21	0	0	0	1	0	13	21					A	71144510	G	A	71144510	3	1	435	1	0	0	0	0	1	0	0	0	11801	1087	38	1	1684	1	PGM5	9	71144510	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	142026	71144510	70068921	4288	25213											
TJP2	9414	broad.mit.edu	37	chr9	71835923	71835923	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gcagaagtttccggagtggcTacagcgagaggagccggctg	9	6	17	9	3	0	2	0	0	0	2	1	5	1	4	2	4	3	4	2	4	2	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:71835923T>C	ENST00000377245.4	+	5	671	c.463T>C	c.(463-465)Tac>Cac	p.Y155H	TJP2_ENST00000535702.1_Missense_Mutation_p.Y159H|TJP2_ENST00000453658.2_Missense_Mutation_p.Y132H|TJP2_ENST00000348208.4_Missense_Mutation_p.Y155H|TJP2_ENST00000265384.7_Missense_Mutation_p.Y155H|TJP2_ENST00000539225.1_Missense_Mutation_p.Y186H	NM_004817.3	NP_004808.2	Q9UDY2	ZO2_HUMAN	tight junction protein 2	155					apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|hippo signaling (GO:0035329)|nucleotide phosphorylation (GO:0046939)|response to organic substance (GO:0010033)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	guanylate kinase activity (GO:0004385)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(5)|lung(9)|prostate(3)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	35						CCGGAGTGGCTACAGCGAGAG	0.672																																						ENST00000377245.4																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(5)|lung(9)|prostate(3)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	35						c.(463-465)Tac>Cac		tight junction protein 2							26	25	25					9																	71835923		2200	4281	6481	SO:0001583	missense	9414				cellular component disassembly involved in apoptosis	adherens junction|cytoplasm|nucleus|tight junction	guanylate kinase activity|protein binding	g.chr9:71835923T>C	L27476	CCDS6627.1, CCDS6628.1, CCDS55314.1, CCDS55315.1, CCDS55316.1, CCDS55317.1	9q13-q21	2012-07-12	2012-07-12		ENSG00000119139	ENSG00000119139			11828	protein-coding gene	gene with protein product	"Friedreich ataxia region gene X104 (tight junction protein ZO-2)", "zona occludens 2"	607709	"deafness, autosomal dominant 51"	DFNA51		7951235, 20602916	Standard	NM_001170630		Approved	ZO-2, X104, ZO2	uc011lrv.2	Q9UDY2	OTTHUMG00000019978	ENST00000377245.4:c.463T>C	9.37:g.71835923T>C	ENSP00000366453:p.Tyr155His					TJP2_ENST00000535702.1_Missense_Mutation_p.Y159H|TJP2_ENST00000348208.4_Missense_Mutation_p.Y155H|TJP2_ENST00000265384.7_Missense_Mutation_p.Y155H|TJP2_ENST00000453658.2_Missense_Mutation_p.Y132H|TJP2_ENST00000539225.1_Missense_Mutation_p.Y186H	p.Y155H	NM_004817.3	NP_004808.2	Q9UDY2	ZO2_HUMAN			5	671	+			155					A2A3H9|B7Z2R8|B7Z7T6|F5H301|F5H886|Q15883|Q5VXL0|Q5VXL1|Q8N756|Q8NI14|Q99839|Q9UDY0|Q9UDY1	Missense_Mutation	SNP	ENST00000377245.4	37	c.463T>C	CCDS6627.1	.	.	.	.	.	.	.	.	.	.	T	17.89	3.500412	0.64298	.	.	ENSG00000119139	ENST00000453658;ENST00000423935;ENST00000377245;ENST00000348208;ENST00000265384;ENST00000535702;ENST00000539225	T;T;T;T;T;T;T	0.34275	3.0;1.37;2.99;3.0;3.0;2.99;3.03	6.03	6.03	0.97812	.	0.000000	0.85682	D	0.000000	T	0.49575	0.1565	L	0.48642	1.525	0.42479	D	0.992854	P;D;D;B;B	0.61080	0.937;0.989;0.985;0.112;0.053	P;D;P;B;B	0.63033	0.69;0.91;0.773;0.088;0.079	T	0.33752	-0.9856	10	0.16896	T	0.51	.	16.5582	0.84512	0.0:0.0:0.0:1.0	.	186;159;155;155;155	F5H301;F5H886;Q9UDY2-2;Q9UDY2;Q9UDY2-5	.;.;.;ZO2_HUMAN;.	H	132;132;155;155;155;159;186	ENSP00000392178:Y132H;ENSP00000402941:Y132H;ENSP00000366453:Y155H;ENSP00000345893:Y155H;ENSP00000265384:Y155H;ENSP00000442090:Y159H;ENSP00000438262:Y186H	ENSP00000265384:Y155H	Y	+	1	0	TJP2	71025743	1.000000	0.71417	0.995000	0.50966	0.965000	0.64279	4.307000	0.59123	2.308000	0.77769	0.533000	0.62120	TAC		0.672	TJP2-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000052572.2	NM_201629		7	5	0	0	0	1	0	7	5					C	71835923	T	C	71835923	3	2	435	1	0	0	0	0	1	0	0	0	15927	1522	53	4	638	4	TJP2	9	71835923	Missense_Mutation	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	691413	71835923	69377508	4289	25214											
APBA1	320	broad.mit.edu	37	chr9	72047551	72047551	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atccggtgccccacacggacGcctcctctctcagctattcc	6	9	7	19	3	2	0	1	0	1	0	6	1	5	1	6	2	2	1	6	2	1	2	rs552347233		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:72047551G>A	ENST00000265381.4	-	12	2565	c.2343C>T	c.(2341-2343)ggC>ggT	p.G781G		NM_001163.3	NP_001154.2	Q02410	APBA1_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 1	781	PDZ 2. {ECO:0000255|PROSITE- ProRule:PRU00143}.				axon cargo transport (GO:0008088)|cell adhesion (GO:0007155)|gamma-aminobutyric acid secretion (GO:0014051)|glutamate secretion (GO:0014047)|in utero embryonic development (GO:0001701)|intracellular protein transport (GO:0006886)|locomotory behavior (GO:0007626)|multicellular organism growth (GO:0035264)|nervous system development (GO:0007399)|protein complex assembly (GO:0006461)|regulation of gene expression (GO:0010468)|synaptic transmission (GO:0007268)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|synaptic vesicle (GO:0008021)	beta-amyloid binding (GO:0001540)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			endometrium(4)|kidney(2)|large_intestine(12)|lung(13)|prostate(3)|skin(3)	37						CCACACGGACGCCTCCTCTCT	0.587													G|||	1	0.000199681	0	0	5008	,	,		19162	0		0.001	False		,,,				2504	0					ENST00000265381.4																			0				endometrium(4)|kidney(2)|large_intestine(12)|lung(13)|prostate(3)|skin(3)	37						c.(2341-2343)ggC>ggT		amyloid beta (A4) precursor protein-binding, family A, member 1							76	65	69					9																	72047551		2203	4300	6503	SO:0001819	synonymous_variant	320				axon cargo transport|cell adhesion|intracellular protein transport|nervous system development|protein complex assembly|synaptic transmission	synaptic vesicle		g.chr9:72047551G>A	AF029106	CCDS6630.1	9q13-q21	2008-07-18	2008-07-18		ENSG00000107282	ENSG00000107282			578	protein-coding gene	gene with protein product		602414		MINT1		7678331, 7719031	Standard	NM_001163		Approved	D9S411E, X11	uc004ahh.2	Q02410	OTTHUMG00000019984	ENST00000265381.4:c.2343C>T	9.37:g.72047551G>A							p.G781G	NM_001163.3	NP_001154.2	Q02410	APBA1_HUMAN			12	2565	-			781			PDZ 2.		O14914|O60570|Q5VYR8	Silent	SNP	ENST00000265381.4	37	c.2343C>T	CCDS6630.1																																																																																				0.587	APBA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052589.2	NM_001163		15	20	0	0	0	1	0	15	20					A	72047551	G	A	72047551	2	1	435	1	0	0	0	0	0	0	0	1	756	1074	38	1		1	APBA1	9	72047551	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	211628	72047551	69165880	4290	25215											
APBA1	320	broad.mit.edu	37	chr9	72067036	72067036	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acagcttcaggtaagtacccAcatctttacagttttccgac	11	12	6	12	1	2	0	1	0	1	0	3	1	3	0	2	1	3	4	2	1	3	7			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:72067036A>G	ENST00000265381.4	-	9	2191		c.e9+1			NM_001163.3	NP_001154.2	Q02410	APBA1_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 1						axon cargo transport (GO:0008088)|cell adhesion (GO:0007155)|gamma-aminobutyric acid secretion (GO:0014051)|glutamate secretion (GO:0014047)|in utero embryonic development (GO:0001701)|intracellular protein transport (GO:0006886)|locomotory behavior (GO:0007626)|multicellular organism growth (GO:0035264)|nervous system development (GO:0007399)|protein complex assembly (GO:0006461)|regulation of gene expression (GO:0010468)|synaptic transmission (GO:0007268)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|synaptic vesicle (GO:0008021)	beta-amyloid binding (GO:0001540)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			endometrium(4)|kidney(2)|large_intestine(12)|lung(13)|prostate(3)|skin(3)	37						GTAAGTACCCACATCTTTACA	0.532																																						ENST00000265381.4																			0				endometrium(4)|kidney(2)|large_intestine(12)|lung(13)|prostate(3)|skin(3)	37						c.e9+1		amyloid beta (A4) precursor protein-binding, family A, member 1							163	156	158					9																	72067036		2203	4300	6503	SO:0001630	splice_region_variant	320				axon cargo transport|cell adhesion|intracellular protein transport|nervous system development|protein complex assembly|synaptic transmission	synaptic vesicle		g.chr9:72067036A>G	AF029106	CCDS6630.1	9q13-q21	2008-07-18	2008-07-18		ENSG00000107282	ENSG00000107282			578	protein-coding gene	gene with protein product		602414		MINT1		7678331, 7719031	Standard	NM_001163		Approved	D9S411E, X11	uc004ahh.2	Q02410	OTTHUMG00000019984	ENST00000265381.4:c.1968+1T>C	9.37:g.72067036A>G								NM_001163.3	NP_001154.2	Q02410	APBA1_HUMAN			9	2191	-								O14914|O60570|Q5VYR8	Splice_Site	SNP	ENST00000265381.4	37		CCDS6630.1	.	.	.	.	.	.	.	.	.	.	A	20.4	3.992559	0.74703	.	.	ENSG00000107282	ENST00000265381	.	.	.	5.54	4.4	0.53042	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.3951	0.49836	0.929:0.0:0.071:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	APBA1	71256856	1.000000	0.71417	0.973000	0.42090	0.846000	0.48090	7.429000	0.80309	0.937000	0.37394	0.533000	0.62120	.		0.532	APBA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052589.2	NM_001163	Intron	12	68	0	0	0	1	0	12	68					G	72067036	A	G	72067036	5	3	435	1	0	0	0	0	0	0	1	0	756	173	6	4	563	4	APBA1	9	72067036	Splice_Site	SNP	A	TCGA-XK-AAIW-01A-11D-A41K-08	19485	72067036	69146395	4291	25216											
APBA1	320	broad.mit.edu	37	chr9	72131762	72131762	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	actcctcggcctcgggccggTactgcacagcataggcgctc	6	7	12	16	4	0	0	0	0	0	0	4	0	1	0	3	4	3	4	3	4	2	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:72131762T>C	ENST00000265381.4	-	2	587	c.365A>G	c.(364-366)tAc>tGc	p.Y122C		NM_001163.3	NP_001154.2	Q02410	APBA1_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 1	122					axon cargo transport (GO:0008088)|cell adhesion (GO:0007155)|gamma-aminobutyric acid secretion (GO:0014051)|glutamate secretion (GO:0014047)|in utero embryonic development (GO:0001701)|intracellular protein transport (GO:0006886)|locomotory behavior (GO:0007626)|multicellular organism growth (GO:0035264)|nervous system development (GO:0007399)|protein complex assembly (GO:0006461)|regulation of gene expression (GO:0010468)|synaptic transmission (GO:0007268)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|synaptic vesicle (GO:0008021)	beta-amyloid binding (GO:0001540)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			endometrium(4)|kidney(2)|large_intestine(12)|lung(13)|prostate(3)|skin(3)	37						CTCGGGCCGGTACTGCACAGC	0.731																																						ENST00000265381.4																			0				endometrium(4)|kidney(2)|large_intestine(12)|lung(13)|prostate(3)|skin(3)	37						c.(364-366)tAc>tGc		amyloid beta (A4) precursor protein-binding, family A, member 1							28	26	27					9																	72131762		2201	4298	6499	SO:0001583	missense	320				axon cargo transport|cell adhesion|intracellular protein transport|nervous system development|protein complex assembly|synaptic transmission	synaptic vesicle		g.chr9:72131762T>C	AF029106	CCDS6630.1	9q13-q21	2008-07-18	2008-07-18		ENSG00000107282	ENSG00000107282			578	protein-coding gene	gene with protein product		602414		MINT1		7678331, 7719031	Standard	NM_001163		Approved	D9S411E, X11	uc004ahh.2	Q02410	OTTHUMG00000019984	ENST00000265381.4:c.365A>G	9.37:g.72131762T>C	ENSP00000265381:p.Tyr122Cys						p.Y122C	NM_001163.3	NP_001154.2	Q02410	APBA1_HUMAN			2	587	-			122					O14914|O60570|Q5VYR8	Missense_Mutation	SNP	ENST00000265381.4	37	c.365A>G	CCDS6630.1	.	.	.	.	.	.	.	.	.	.	T	15.78	2.934923	0.52866	.	.	ENSG00000107282	ENST00000265381	T	0.05199	3.48	5.16	3.98	0.46160	.	0.235855	0.37178	N	0.002203	T	0.06962	0.0177	N	0.24115	0.695	0.41146	D	0.985998	D	0.58620	0.983	P	0.46975	0.533	T	0.25779	-1.0122	10	0.87932	D	0	.	11.441	0.50096	0.1352:0.0:0.0:0.8648	.	122	Q02410	APBA1_HUMAN	C	122	ENSP00000265381:Y122C	ENSP00000265381:Y122C	Y	-	2	0	APBA1	71321582	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	2.823000	0.48081	0.869000	0.35703	0.459000	0.35465	TAC		0.731	APBA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052589.2	NM_001163		4	9	0	0	0	1	0	4	9					C	72131762	T	C	72131762	3	2	435	1	0	0	0	0	1	0	0	0	756	1638	57	4	2196	4	APBA1	9	72131762	Missense_Mutation	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	64726	72131762	69081669	4292	25217											
MAMDC2	256691	broad.mit.edu	37	chr9	72723166	72723166	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tacctcctttggcaagcaggGggagaaagctgtgctgctaa	10	9	13	9	0	0	1	0	0	0	1	1	2	1	1	2	3	5	5	2	3	4	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:72723166G>A	ENST00000377182.4	+	3	805	c.188G>A	c.(187-189)gGg>gAg	p.G63E	MAMDC2-AS1_ENST00000591368.1_RNA|MAMDC2-AS1_ENST00000414515.3_RNA	NM_153267.4	NP_694999.3	Q7Z304	MAMC2_HUMAN	MAM domain containing 2	63	MAM 1. {ECO:0000255|PROSITE- ProRule:PRU00128}.				peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)	endoplasmic reticulum (GO:0005783)|interstitial matrix (GO:0005614)|membrane (GO:0016020)	glycosaminoglycan binding (GO:0005539)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)	14						GGCAAGCAGGGGGAGAAAGCT	0.458																																						ENST00000377182.4																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)	14						c.(187-189)gGg>gAg		MAM domain containing 2							114	111	112					9																	72723166		2203	4300	6503	SO:0001583	missense	256691					endoplasmic reticulum|membrane		g.chr9:72723166G>A	BC040299	CCDS6631.1	9q21.2	2008-02-05			ENSG00000165072	ENSG00000165072			23673	protein-coding gene	gene with protein product		612879					Standard	NM_153267		Approved	MGC21981	uc004ahm.2	Q7Z304	OTTHUMG00000019990	ENST00000377182.4:c.188G>A	9.37:g.72723166G>A	ENSP00000366387:p.Gly63Glu					MAMDC2-AS1_ENST00000414515.3_RNA|MAMDC2-AS1_ENST00000591368.1_RNA	p.G63E	NM_153267.4	NP_694999.3	Q7Z304	MAMC2_HUMAN			3	805	+			63			MAM 1.		Q5VW47|Q8WX43|Q96BM4	Missense_Mutation	SNP	ENST00000377182.4	37	c.188G>A	CCDS6631.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.960159	0.74016	.	.	ENSG00000165072	ENST00000377182	T	0.02812	4.15	5.87	4.97	0.65823	Concanavalin A-like lectin/glucanase (1);MAM domain (3);	0.289290	0.39020	N	0.001481	T	0.07773	0.0195	M	0.74881	2.28	0.48901	D	0.999723	P	0.43578	0.811	P	0.44772	0.46	T	0.09228	-1.0684	10	0.45353	T	0.12	-26.6679	14.7384	0.69434	0.0693:0.0:0.9307:0.0	.	63	Q7Z304	MAMC2_HUMAN	E	63	ENSP00000366387:G63E	ENSP00000366387:G63E	G	+	2	0	MAMDC2	71912986	1.000000	0.71417	0.998000	0.56505	0.981000	0.71138	4.686000	0.61700	1.477000	0.48234	0.650000	0.86243	GGG		0.458	MAMDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052600.1	NM_153267		29	43	0	0	0	1	0	29	43					A	72723166	G	A	72723166	3	1	435	1	0	0	0	0	1	0	0	0	9203	1232	43	3	198	3	MAMDC2	9	72723166	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	591404	72723166	68490265	4293	25218											
FAM108B1	51104	broad.mit.edu	37	chr9	74481729	74481729	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atttaccagttcctgtgacaCaaactgtttcaacctttcaa	12	14	4	11	0	2	1	2	1	0	0	3	1	3	1	3	0	3	2	3	0	4	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:74481729C>T	ENST00000333421.6	-	4	952	c.841G>A	c.(841-843)Gtg>Atg	p.V281M	ABHD17B_ENST00000377041.2_Missense_Mutation_p.V281M	NM_001025780.1	NP_001020951.1	Q5VST6	AB17B_HUMAN	abhydrolase domain containing 17B	281						extracellular region (GO:0005576)|membrane (GO:0016020)	hydrolase activity (GO:0016787)										TCCTGTGACACAAACTGTTTC	0.398																																						ENST00000333421.6																			0											c.(841-843)Gtg>Atg		abhydrolase domain containing 17B							62	59	60					9																	74481729		2203	4300	6503	SO:0001583	missense	51104							g.chr9:74481729C>T	AF151825	CCDS35042.1, CCDS35043.1	9q21.2	2013-03-15	2013-03-15	2013-03-15	ENSG00000107362	ENSG00000107362		"Abhydrolase domain containing"	24278	protein-coding gene	gene with protein product			"chromosome 9 open reading frame 77", "family with sequence similarity 108, member B1"	C9orf77, FAM108B1		10810093	Standard	XM_006717134		Approved	CGI-67	uc004ail.3	Q5VST6	OTTHUMG00000020001	ENST00000333421.6:c.841G>A	9.37:g.74481729C>T	ENSP00000330222:p.Val281Met					ABHD17B_ENST00000377041.2_Missense_Mutation_p.V281M	p.V281M	NM_001025780.1	NP_001020951.1					4	952	-								A8KAJ5|Q5VST7|Q86YB6|Q8IY03|Q9Y377	Missense_Mutation	SNP	ENST00000333421.6	37	c.841G>A	CCDS35043.1	.	.	.	.	.	.	.	.	.	.	C	18.16	3.561195	0.65538	.	.	ENSG00000107362	ENST00000377041;ENST00000333421	T;T	0.42513	0.97;0.97	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	T	0.59252	0.2180	M	0.66506	2.035	0.58432	D	0.999999	P;P	0.48640	0.913;0.889	P;P	0.54210	0.56;0.745	T	0.59311	-0.7478	10	0.59425	D	0.04	-5.5963	19.9651	0.97262	0.0:1.0:0.0:0.0	.	281;281	Q5VST6;Q5VST6-2	F108B_HUMAN;.	M	281	ENSP00000366240:V281M;ENSP00000330222:V281M	ENSP00000330222:V281M	V	-	1	0	FAM108B1	73671549	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.798000	0.55522	2.793000	0.96121	0.655000	0.94253	GTG		0.398	ABHD17B-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000052625.1	NM_016014		7	40	0	0	0	1	0	7	40					T	74481729	C	T	74481729	3	4	435	1	0	0	0	0	1	0	0	0	5392	478	17	3	60	3	FAM108B1	9	74481729	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	1758563	74481729	66731702	4294	25219											
FAM108B1	51104	broad.mit.edu	37	chr9	74489562	74489562	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaagccaagcagcttcaatGtctgcatagaggttcttctc	10	11	9	11	0	4	1	1	0	3	1	5	1	4	1	1	1	4	5	1	1	4	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:74489562G>A	ENST00000333421.6	-	2	546	c.435C>T	c.(433-435)gaC>gaT	p.D145D	ABHD17B_ENST00000377041.2_Silent_p.D145D	NM_001025780.1	NP_001020951.1	Q5VST6	AB17B_HUMAN	abhydrolase domain containing 17B	145						extracellular region (GO:0005576)|membrane (GO:0016020)	hydrolase activity (GO:0016787)										CAGCTTCAATGTCTGCATAGA	0.378																																						ENST00000333421.6																			0											c.(433-435)gaC>gaT		abhydrolase domain containing 17B							63	60	61					9																	74489562		2203	4300	6503	SO:0001819	synonymous_variant	51104							g.chr9:74489562G>A	AF151825	CCDS35042.1, CCDS35043.1	9q21.2	2013-03-15	2013-03-15	2013-03-15	ENSG00000107362	ENSG00000107362		"Abhydrolase domain containing"	24278	protein-coding gene	gene with protein product			"chromosome 9 open reading frame 77", "family with sequence similarity 108, member B1"	C9orf77, FAM108B1		10810093	Standard	XM_006717134		Approved	CGI-67	uc004ail.3	Q5VST6	OTTHUMG00000020001	ENST00000333421.6:c.435C>T	9.37:g.74489562G>A						ABHD17B_ENST00000377041.2_Silent_p.D145D	p.D145D	NM_001025780.1	NP_001020951.1					2	546	-								A8KAJ5|Q5VST7|Q86YB6|Q8IY03|Q9Y377	Silent	SNP	ENST00000333421.6	37	c.435C>T	CCDS35043.1																																																																																				0.378	ABHD17B-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000052625.1	NM_016014		16	51	0	0	0	1	0	16	51					A	74489562	G	A	74489562	2	1	435	1	0	0	0	0	0	0	0	1	5392	1368	48	3		3	FAM108B1	9	74489562	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	7833	74489562	66723869	4295	25220											
TMC1	117531	broad.mit.edu	37	chr9	75407265	75407265	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctgggaaacaatggtgggAcaggtaatgccaccaacaga	14	6	13	8	0	0	1	0	0	0	1	0	3	0	3	2	4	4	2	2	4	4	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:75407265A>G	ENST00000297784.5	+	17	2103	c.1563A>G	c.(1561-1563)ggA>ggG	p.G521G	TMC1_ENST00000486417.1_3'UTR|TMC1_ENST00000396237.3_Silent_p.G521G|TMC1_ENST00000340019.3_Silent_p.G521G	NM_138691.2	NP_619636.2	Q8TDI8	TMC1_HUMAN	transmembrane channel-like 1	521					auditory receptor cell development (GO:0060117)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|vestibular reflex (GO:0060005)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|stereocilium bundle tip (GO:0032426)	voltage-gated calcium channel activity (GO:0005245)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(21)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	36						CAATGGTGGGACAGGTAATGC	0.403																																					Pancreas(75;173 1345 14232 34245 43413)	ENST00000297784.5																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(21)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	36						c.(1561-1563)ggA>ggG		transmembrane channel-like 1							178	166	170					9																	75407265		2203	4300	6503	SO:0001819	synonymous_variant	117531				sensory perception of sound	integral to membrane		g.chr9:75407265A>G	AF417578	CCDS6643.1	9q21	2014-01-28			ENSG00000165091	ENSG00000165091			16513	protein-coding gene	gene with protein product		606706	"transmembrane, cochlear expressed, 1"	DFNA36, DFNB7, DFNB11		11850618, 11850623	Standard	NM_138691		Approved		uc004aiz.1	Q8TDI8	OTTHUMG00000020014	ENST00000297784.5:c.1563A>G	9.37:g.75407265A>G						TMC1_ENST00000396237.3_Silent_p.G521G|TMC1_ENST00000340019.3_Silent_p.G521G|TMC1_ENST00000486417.1_3'UTR	p.G521G	NM_138691.2	NP_619636.2	Q8TDI8	TMC1_HUMAN			17	2103	+			521					A8MVZ2|B1AM91	Silent	SNP	ENST00000297784.5	37	c.1563A>G	CCDS6643.1																																																																																				0.403	TMC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052655.1			26	176	0	0	0	1	0	26	176					G	75407265	A	G	75407265	2	3	435	1	0	0	0	0	0	0	0	1	15981	262	10	4		4	TMC1	9	75407265	Silent	SNP	A	TCGA-XK-AAIW-01A-11D-A41K-08	917703	75407265	65806166	4296	25221											
ALDH1A1	216	broad.mit.edu	37	chr9	75531836	75531836	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctttctattttatacttacCtgagggccttgagtgactcc	7	16	7	11	0	1	3	0	3	1	0	2	3	2	3	4	1	2	0	4	1	4	7			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:75531836C>A	ENST00000297785.3	-	9	1089	c.1035G>T	c.(1033-1035)caG>caT	p.Q345H		NM_000689.4	NP_000680.2	P00352	AL1A1_HUMAN	aldehyde dehydrogenase 1 family, member A1	345					cellular aldehyde metabolic process (GO:0006081)|ethanol oxidation (GO:0006069)|positive regulation of Ras GTPase activity (GO:0032320)|retinol metabolic process (GO:0042572)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	aldehyde dehydrogenase (NAD) activity (GO:0004029)|androgen binding (GO:0005497)|Ras GTPase activator activity (GO:0005099)|retinal dehydrogenase activity (GO:0001758)			breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)	17					Tretinoin(DB00755)|Vitamin A(DB00162)	TTATACTTACCTGAGGGCCTT	0.398																																						ENST00000297785.3																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)	17						c.e9+1		aldehyde dehydrogenase 1 family, member A1	NADH(DB00157)|Tretinoin(DB00755)|Vitamin A(DB00162)						80	72	75					9																	75531836		2203	4300	6503	SO:0001630	splice_region_variant	216				cellular aldehyde metabolic process|ethanol oxidation|xenobiotic metabolic process	cytosol	aldehyde dehydrogenase (NAD) activity|androgen binding|Ras GTPase activator activity|retinal dehydrogenase activity	g.chr9:75531836C>A	K03000	CCDS6644.1	9q21.13	2010-08-05			ENSG00000165092	ENSG00000165092	1.2.1.36, 1.2.1.3	"Aldehyde dehydrogenases"	402	protein-coding gene	gene with protein product	"retinaldehyde dehydrogenase 1"	100640		PUMB1, ALDH1		1709013	Standard	NM_000689		Approved	RALDH1	uc004ajd.3	P00352	OTTHUMG00000020019	ENST00000297785.3:c.1035+1G>T	9.37:g.75531836C>A							p.Q345_splice	NM_000689.4	NP_000680.2	P00352	AL1A1_HUMAN			9	1089	-			345					O00768|Q5SYR1	Splice_Site	SNP	ENST00000297785.3	37	c.1035_splice	CCDS6644.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.062963	0.76187	.	.	ENSG00000165092	ENST00000297785	T	0.76316	-1.01	5.96	5.04	0.67666	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, C-terminal (1);Aldehyde/histidinol dehydrogenase (1);	0.000000	0.85682	D	0.000000	D	0.83543	0.5277	M	0.87547	2.89	0.80722	D	1	B;B	0.28783	0.222;0.042	B;B	0.41666	0.363;0.141	T	0.81731	-0.0799	9	.	.	.	.	11.2102	0.48793	0.0:0.8359:0.0:0.1641	.	266;345	B4DDF8;P00352	.;AL1A1_HUMAN	H	345	ENSP00000297785:Q345H	.	Q	-	3	2	ALDH1A1	74721656	1.000000	0.71417	1.000000	0.80357	0.873000	0.50193	3.614000	0.54160	1.464000	0.47987	0.655000	0.94253	CAG		0.398	ALDH1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052679.1		Missense_Mutation	4	58	1	0	0.000602214	1	0.000612743	4	58					A	75531836	C	A	75531836	5	1	435	1	0	0	0	0	0	0	1	0	490	695	24	5	490	5	ALDH1A1	9	75531836	Splice_Site	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	124571	75531836	65681595	4297	25222											
TRPM6	140803	broad.mit.edu	37	chr9	77415342	77415342	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcaacagcgtcatggccatgCgctcattctgcttgaatgcc	8	11	9	13	2	4	1	3	1	1	0	4	1	4	1	2	1	5	2	2	1	2	2	rs375390431		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:77415342C>T	ENST00000360774.1	-	17	2303	c.2066G>A	c.(2065-2067)cGc>cAc	p.R689H	TRPM6_ENST00000376872.3_Intron|TRPM6_ENST00000361255.3_Missense_Mutation_p.R684H|TRPM6_ENST00000449912.2_Missense_Mutation_p.R684H|TRPM6_ENST00000451710.3_Missense_Mutation_p.R689H|TRPM6_ENST00000376871.3_Intron|TRPM6_ENST00000376864.4_Missense_Mutation_p.R689H|RN7SKP47_ENST00000365347.1_RNA	NM_017662.4	NP_060132.3	Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	689					calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|response to toxic substance (GO:0009636)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium channel activity (GO:0005262)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						CATGGCCATGCGCTCATTCTG	0.512																																						ENST00000451710.3																			0				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						c.(2065-2067)cGc>cAc		transient receptor potential cation channel, subfamily M, member 6							115	95	102					9																	77415342		2203	4300	6503	SO:0001583	missense	140803				response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr9:77415342C>T	AK026281	CCDS6647.1, CCDS55318.1, CCDS55319.1	9q21.13	2011-12-14	2003-12-02		ENSG00000119121	ENSG00000119121		"Voltage-gated ion channels / Transient receptor potential cation channels"	17995	protein-coding gene	gene with protein product		607009	"hypomagnesemia, secondary hypocalcemia"	HOMG, HSH		10021370, 12032570, 16382100	Standard	NM_017662		Approved	CHAK2, FLJ22628	uc004ajk.1	Q9BX84	OTTHUMG00000020027	ENST00000360774.1:c.2066G>A	9.37:g.77415342C>T	ENSP00000354006:p.Arg689His					TRPM6_ENST00000360774.1_Missense_Mutation_p.R689H|TRPM6_ENST00000361255.3_Missense_Mutation_p.R684H|TRPM6_ENST00000376864.4_Missense_Mutation_p.R689H|TRPM6_ENST00000449912.2_Missense_Mutation_p.R684H|TRPM6_ENST00000376872.3_Intron|TRPM6_ENST00000376871.3_Intron	p.R689H			Q9BX84	TRPM6_HUMAN			17	2303	-			689					Q6VPR8|Q6VPR9|Q6VPS0|Q6VPS1|Q6VPS2	Missense_Mutation	SNP	ENST00000360774.1	37	c.2066G>A	CCDS6647.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.204479	0.79127	.	.	ENSG00000119121	ENST00000360774;ENST00000451710;ENST00000449912;ENST00000361255;ENST00000376864;ENST00000312449;ENST00000448641	D;D;D;D;D	0.82433	-1.61;-1.61;-1.61;-1.61;-1.61	6.06	2.93	0.34026	.	0.489513	0.24247	N	0.040205	T	0.74053	0.3666	L	0.43152	1.355	0.21762	N	0.999558	B;D;B	0.54397	0.11;0.966;0.264	B;B;B	0.43331	0.027;0.416;0.04	T	0.67329	-0.5698	10	0.59425	D	0.04	.	4.3403	0.11106	0.0:0.414:0.2317:0.3543	.	352;689;684	F5H7D1;Q9BX84;Q9BX84-3	.;TRPM6_HUMAN;.	H	689;689;684;684;689;352;352	ENSP00000354006:R689H;ENSP00000407341:R689H;ENSP00000396672:R684H;ENSP00000354962:R684H;ENSP00000366060:R689H	ENSP00000309693:R352H	R	-	2	0	TRPM6	76605162	0.035000	0.19736	0.985000	0.45067	0.982000	0.71751	0.354000	0.20146	0.711000	0.32018	0.650000	0.86243	CGC		0.512	TRPM6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000052693.1	NM_017662		32	35	0	0	0	1	0	32	35					T	77415342	C	T	77415342	3	4	435	1	0	0	0	0	1	0	0	0	16587	768	27	1	4094	1	TRPM6	9	77415342	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	1883506	77415342	63798089	4298	25223											
C9orf40	55071	broad.mit.edu	37	chr9	77563093	77563093	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggattcctccagtactggaaGgtattatactgccaaaattc	12	12	8	9	0	0	0	0	0	0	0	3	2	2	2	3	3	3	2	3	3	7	6			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:77563093G>T	ENST00000376854.5	-	2	730	c.456C>A	c.(454-456)acC>acA	p.T152T		NM_017998.2	NP_060468.2	Q8IXQ3	CI040_HUMAN	chromosome 9 open reading frame 40	152										lung(2)|stomach(1)	3						AGTACTGGAAGGTATTATACT	0.368																																						ENST00000376854.5																			0				lung(2)|stomach(1)	3						c.(454-456)acC>acA		chromosome 9 open reading frame 40							99	95	96					9																	77563093		2203	4300	6503	SO:0001819	synonymous_variant	55071							g.chr9:77563093G>T	AK000972	CCDS6648.1	9q21.31	2012-03-15			ENSG00000135045	ENSG00000135045			23433	protein-coding gene	gene with protein product							Standard	NM_017998		Approved	FLJ10110	uc004ajo.4	Q8IXQ3	OTTHUMG00000020031	ENST00000376854.5:c.456C>A	9.37:g.77563093G>T							p.T152T	NM_017998.2	NP_060468.2	Q8IXQ3	CI040_HUMAN			2	730	-			152					Q9NWD3	Silent	SNP	ENST00000376854.5	37	c.456C>A	CCDS6648.1																																																																																				0.368	C9orf40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052702.1	NM_017998		25	31	1	0	1.5548e-18	1	1.71633e-18	25	31					T	77563093	G	T	77563093	2	4	435	1	0	0	0	0	0	0	0	1	2481	987	35	5		5	C9orf40	9	77563093	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	147751	77563093	63650338	4299	25224											
C9orf95	54981	broad.mit.edu	37	chr9	77683992	77683992	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggccatcaaagtatcccggaGagtctggaggctgatagacc	11	7	13	10	1	2	3	1	1	1	2	3	5	3	4	3	4	0	2	3	4	3	2	rs137952847		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:77683992G>A	ENST00000361092.4	-	7	652	c.416C>T	c.(415-417)tCt>tTt	p.S139F	NMRK1_ENST00000482537.1_5'Flank|NMRK1_ENST00000376811.1_Missense_Mutation_p.S143F|NMRK1_ENST00000376808.4_Missense_Mutation_p.S115F	NM_017881.2	NP_060351.1	Q9NWW6	NRK1_HUMAN	nicotinamide riboside kinase 1	139					NAD biosynthetic process (GO:0009435)		ATP binding (GO:0005524)|metal ion binding (GO:0046872)|ribosylnicotinamide kinase activity (GO:0050262)										GTATCCCGGAGAGTCTGGAGG	0.413																																						ENST00000376811.1																			0											c.(427-429)tCt>tTt		nicotinamide riboside kinase 1		G	PHE/SER,PHE/SER	2,4404	4.2+/-10.8	0,2,2201	112	104	107		344,416	4.3	0.4	9	dbSNP_134	107	0,8600		0,0,4300	no	missense,missense	C9orf95	NM_001127603.1,NM_017881.2	155,155	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	benign,benign	115/176,139/200	77683992	2,13004	2203	4300	6503	SO:0001583	missense	54981				pyridine nucleotide biosynthetic process		ATP binding|metal ion binding|ribosylnicotinamide kinase activity	g.chr9:77683992G>A	AK097144	CCDS6650.1, CCDS47981.1	9q21.31	2012-03-30	2012-03-30	2012-03-30	ENSG00000106733	ENSG00000106733			26057	protein-coding gene	gene with protein product		608704	"chromosome 9 open reading frame 95"	C9orf95		15137942	Standard	NM_017881		Approved	FLJ20559, NRK1, bA235O14.2	uc004ajr.4	Q9NWW6	OTTHUMG00000020034	ENST00000361092.4:c.416C>T	9.37:g.77683992G>A	ENSP00000354387:p.Ser139Phe					NMRK1_ENST00000376808.4_Missense_Mutation_p.S115F|NMRK1_ENST00000361092.4_Missense_Mutation_p.S139F	p.S143F			Q9NWW6	NRK1_HUMAN			8	890	-			139					Q5W124|Q8N430	Missense_Mutation	SNP	ENST00000361092.4	37	c.428C>T	CCDS6650.1	.	.	.	.	.	.	.	.	.	.	G	13.61	2.287234	0.40494	4.54E-4	0.0	ENSG00000106733	ENST00000376811;ENST00000376794;ENST00000361092;ENST00000376808	T;T;T	0.32988	1.43;1.43;1.43	6.17	4.33	0.51752	.	0.503050	0.22968	N	0.053477	T	0.21674	0.0522	N	0.14661	0.345	0.22639	N	0.998902	B;P;B	0.45126	0.413;0.851;0.239	B;B;B	0.42625	0.17;0.393;0.178	T	0.08680	-1.0710	10	0.62326	D	0.03	-0.0771	13.0805	0.59112	0.1326:0.0:0.8674:0.0	.	115;143;139	Q9NWW6-2;Q5W125;Q9NWW6	.;.;NRK1_HUMAN	F	143;143;139;115	ENSP00000366007:S143F;ENSP00000354387:S139F;ENSP00000366004:S115F	ENSP00000354387:S139F	S	-	2	0	C9orf95	76873812	0.998000	0.40836	0.439000	0.26833	0.478000	0.33099	5.049000	0.64244	1.627000	0.50400	0.655000	0.94253	TCT		0.413	NMRK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052705.1	NM_017881		18	33	0	0	0	1	0	18	33					A	77683992	G	A	77683992	3	1	435	1	0	0	0	0	1	0	0	0	2507	942	33	3	195	3	C9orf95	9	77683992	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	120899	77683992	63529439	4300	25225											
GCNT1	2650	broad.mit.edu	37	chr9	79117907	79117907	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcaactgcatgaaggatctcTatgcaatgagtgcaaactgg	13	10	10	8	0	2	2	1	2	1	0	3	3	2	3	0	2	5	3	0	2	5	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:79117907T>A	ENST00000376730.4	+	4	1093	c.610T>A	c.(610-612)Tat>Aat	p.Y204N	GCNT1_ENST00000444201.2_Missense_Mutation_p.Y204N|GCNT1_ENST00000536223.1_Missense_Mutation_p.Y204N|GCNT1_ENST00000442371.1_Missense_Mutation_p.Y204N	NM_001097636.1|NM_001490.4	NP_001091105.1|NP_001481.2	Q02742	GCNT1_HUMAN	glucosaminyl (N-acetyl) transferase 1, core 2	204	Catalytic. {ECO:0000250}.				cell adhesion molecule production (GO:0060352)|cellular protein metabolic process (GO:0044267)|glycoprotein biosynthetic process (GO:0009101)|kidney morphogenesis (GO:0060993)|leukocyte tethering or rolling (GO:0050901)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to insulin (GO:0032868)|tissue morphogenesis (GO:0048729)	extracellular space (GO:0005615)|Golgi cisterna (GO:0031985)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|trans-Golgi network (GO:0005802)	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity (GO:0003829)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(11)|prostate(2)|urinary_tract(1)	30						GAAGGATCTCTATGCAATGAG	0.423																																						ENST00000442371.1																			0				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(11)|prostate(2)|urinary_tract(1)	30						c.(610-612)Tat>Aat		glucosaminyl (N-acetyl) transferase 1, core 2							79	78	78					9																	79117907		2203	4299	6502	SO:0001583	missense	2650				protein O-linked glycosylation	Golgi membrane|integral to membrane	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity	g.chr9:79117907T>A	L41415	CCDS6653.1	9q13	2013-02-25	2010-03-16		ENSG00000187210	ENSG00000187210	2.4.1.102	"Glucosaminyl (N-acetyl) transferase and xylosyltransferase family"	4203	protein-coding gene	gene with protein product	"core 2 beta1,6 N-acetylglucosaminyltransferase-I", "beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N--acetylglucosaminyltransferase"	600391	"glucosaminyl (N-acetyl) transferase 1, core 2 (beta-1,6-N-acetylglucosaminyltransferase)"	NACGT2		8449405, 9915862	Standard	NM_001490		Approved	C2GNT, NAGCT2	uc004akf.4	Q02742	OTTHUMG00000020044	ENST00000376730.4:c.610T>A	9.37:g.79117907T>A	ENSP00000365920:p.Tyr204Asn					GCNT1_ENST00000376730.4_Missense_Mutation_p.Y204N|GCNT1_ENST00000536223.1_Missense_Mutation_p.Y204N|GCNT1_ENST00000444201.2_Missense_Mutation_p.Y204N	p.Y204N	NM_001097634.1	NP_001091103.1	Q02742	GCNT1_HUMAN			3	1549	+			204			Catalytic (By similarity).		Q6DJZ4	Missense_Mutation	SNP	ENST00000376730.4	37	c.610T>A	CCDS6653.1	.	.	.	.	.	.	.	.	.	.	t	10.10	1.258400	0.23051	.	.	ENSG00000187210	ENST00000536223;ENST00000442371;ENST00000444201;ENST00000376730	T;T;T;T	0.11385	2.78;2.78;2.78;2.78	6.07	2.51	0.30379	.	0.251377	0.41294	D	0.000912	T	0.20088	0.0483	L	0.57536	1.79	0.23855	N	0.996651	P	0.50528	0.936	P	0.56751	0.805	T	0.03545	-1.1026	9	.	.	.	.	8.8636	0.35272	0.0:0.2656:0.0:0.7344	.	204	Q02742	GCNT1_HUMAN	N	204	ENSP00000440883:Y204N;ENSP00000415454:Y204N;ENSP00000390703:Y204N;ENSP00000365920:Y204N	.	Y	+	1	0	GCNT1	78307727	0.038000	0.19896	0.029000	0.17559	0.044000	0.14063	0.482000	0.22276	0.190000	0.20209	-0.256000	0.11100	TAT		0.423	GCNT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052725.1	NM_001097634		46	50	0	0	0	1	0	46	50					A	79117907	T	A	79117907	3	1	435	1	0	0	0	0	1	0	0	0	6300	1522	53	5	612	5	GCNT1	9	79117907	Missense_Mutation	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	1433915	79117907	62095524	4301	25226											
PRUNE2	158471	broad.mit.edu	37	chr9	79321905	79321905	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aagtccagggatcagggctgCtttgttgattgtcacagaat	10	12	12	7	0	2	2	2	1	0	1	3	3	3	3	1	2	1	3	1	2	2	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:79321905C>A	ENST00000376718.3	-	8	5408	c.5285G>T	c.(5284-5286)aGc>aTc	p.S1762I	PRUNE2_ENST00000428286.1_Missense_Mutation_p.S1403I	NM_015225.2	NP_056040.2	Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	1762					apoptotic process (GO:0006915)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|pyrophosphatase activity (GO:0016462)			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						ATCAGGGCTGCTTTGTTGATT	0.438																																						ENST00000428286.1																			0				endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						c.(4207-4209)aGc>aTc		prune homolog 2 (Drosophila)							186	145	158					9																	79321905		1568	3582	5150	SO:0001583	missense	158471				apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity	g.chr9:79321905C>A	BC019095	CCDS47982.1	9q21.32	2013-04-29	2006-11-24	2006-11-24	ENSG00000106772	ENSG00000106772			25209	protein-coding gene	gene with protein product	"olfaxin"	610691	"chromosome 9 open reading frame 65", "KIAA0367"	C9orf65, KIAA0367		16288218	Standard	NM_015225		Approved	BMCC1, BNIPXL, A214N16.3, bA214N16.3	uc010mpk.3	Q8WUY3	OTTHUMG00000020047	ENST00000376718.3:c.5285G>T	9.37:g.79321905C>A	ENSP00000365908:p.Ser1762Ile					PRUNE2_ENST00000376718.3_Missense_Mutation_p.S1762I	p.S1403I			Q8WUY3	PRUN2_HUMAN			8	5408	-			1762					B3KYC4|B4DQH8|O15073|Q58A63|Q5JUB6|Q5T304|Q5T476|Q6T2V6|Q6T2V7|Q8N665	Missense_Mutation	SNP	ENST00000376718.3	37	c.4208G>T	CCDS47982.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.44|11.44	1.639368|1.639368	0.29157|0.29157	.|.	.|.	ENSG00000106772|ENSG00000106772	ENST00000426088|ENST00000376718;ENST00000428286;ENST00000422033	.|T;T	.|0.54279	.|0.59;0.58	6.03|6.03	3.08|3.08	0.35506|0.35506	.|.	.|0.089524	.|0.49305	.|D	.|0.000144	T|T	0.43033|0.43033	0.1229|0.1229	L|L	0.54323|0.54323	1.7|1.7	0.80722|0.80722	D|D	1|1	.|P	.|0.37330	.|0.59	.|B	.|0.35182	.|0.197	T|T	0.41840|0.41840	-0.9486|-0.9486	5|10	.|0.87932	.|D	.|0	-7.792|-7.792	6.1953|6.1953	0.20546|0.20546	0.1494:0.6955:0.0:0.1551|0.1494:0.6955:0.0:0.1551	.|.	.|1762	.|Q8WUY3	.|PRUN2_HUMAN	N|I	1083|1762;1403;1761	.|ENSP00000365908:S1762I;ENSP00000397425:S1403I	.|ENSP00000365908:S1762I	K|S	-|-	3|2	2|0	PRUNE2|PRUNE2	78511725|78511725	0.999000|0.999000	0.42202|0.42202	0.989000|0.989000	0.46669|0.46669	0.035000|0.035000	0.12851|0.12851	0.430000|0.430000	0.21428|0.21428	0.898000|0.898000	0.36418|0.36418	-0.136000|-0.136000	0.14681|0.14681	AAG|AGC		0.438	PRUNE2-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052730.2	NM_138818		11	39	1	0	0.000673444	1	0.000685014	11	39					A	79321905	C	A	79321905	3	1	435	1	0	0	0	0	1	0	0	0	12641	797	28	5	4029	5	PRUNE2	9	79321905	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	203998	79321905	61891526	4302	25227											
PRUNE2	158471	broad.mit.edu	37	chr9	79323043	79323043	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agtgacagcaagagagctgaTtttgcctgatttaatgcaga	13	11	11	6	0	0	5	0	3	0	2	0	6	0	5	1	0	4	3	1	0	2	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:79323043T>C	ENST00000376718.3	-	8	4270	c.4147A>G	c.(4147-4149)Atc>Gtc	p.I1383V	PRUNE2_ENST00000428286.1_Missense_Mutation_p.I1024V	NM_015225.2	NP_056040.2	Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	1383					apoptotic process (GO:0006915)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|pyrophosphatase activity (GO:0016462)			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						AGAGAGCTGATTTTGCCTGAT	0.463																																						ENST00000428286.1																			0				endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						c.(3070-3072)Atc>Gtc		prune homolog 2 (Drosophila)							88	78	81					9																	79323043		1568	3582	5150	SO:0001583	missense	158471				apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity	g.chr9:79323043T>C	BC019095	CCDS47982.1	9q21.32	2013-04-29	2006-11-24	2006-11-24	ENSG00000106772	ENSG00000106772			25209	protein-coding gene	gene with protein product	"olfaxin"	610691	"chromosome 9 open reading frame 65", "KIAA0367"	C9orf65, KIAA0367		16288218	Standard	NM_015225		Approved	BMCC1, BNIPXL, A214N16.3, bA214N16.3	uc010mpk.3	Q8WUY3	OTTHUMG00000020047	ENST00000376718.3:c.4147A>G	9.37:g.79323043T>C	ENSP00000365908:p.Ile1383Val					PRUNE2_ENST00000376718.3_Missense_Mutation_p.I1383V	p.I1024V			Q8WUY3	PRUN2_HUMAN			8	4270	-			1383					B3KYC4|B4DQH8|O15073|Q58A63|Q5JUB6|Q5T304|Q5T476|Q6T2V6|Q6T2V7|Q8N665	Missense_Mutation	SNP	ENST00000376718.3	37	c.3070A>G	CCDS47982.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	2.878|2.878	-0.232479|-0.232479	0.05983|0.05983	.|.	.|.	ENSG00000106772|ENSG00000106772	ENST00000376718;ENST00000428286;ENST00000422033|ENST00000426088	T;T|.	0.48522|.	0.81;0.81|.	5.45|5.45	-1.34|-1.34	0.09143|0.09143	.|.	0.410776|.	0.20749|.	N|.	0.086395|.	T|T	0.46870|0.46870	0.1415|0.1415	L|L	0.51422|0.51422	1.61|1.61	0.33135|0.33135	D|D	0.54362|0.54362	B|.	0.09022|.	0.002|.	B|.	0.10450|.	0.005|.	T|T	0.53373|0.53373	-0.8448|-0.8448	10|5	0.07813|.	T|.	0.8|.	-1.8002|-1.8002	5.8181|5.8181	0.18512|0.18512	0.0:0.2718:0.129:0.5992|0.0:0.2718:0.129:0.5992	.|.	1383|.	Q8WUY3|.	PRUN2_HUMAN|.	V|S	1383;1024;1382|704	ENSP00000365908:I1383V;ENSP00000397425:I1024V|.	ENSP00000365908:I1383V|.	I|N	-|-	1|2	0|0	PRUNE2|PRUNE2	78512863|78512863	0.076000|0.076000	0.21285|0.21285	0.200000|0.200000	0.23457|0.23457	0.613000|0.613000	0.37349|0.37349	0.200000|0.200000	0.17257|0.17257	-0.388000|-0.388000	0.07797|0.07797	-0.256000|-0.256000	0.11100|0.11100	ATC|AAT		0.463	PRUNE2-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052730.2	NM_138818		18	38	0	0	0	1	0	18	38					C	79323043	T	C	79323043	3	2	435	1	0	0	0	0	1	0	0	0	12641	1493	52	4	5167	4	PRUNE2	9	79323043	Missense_Mutation	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	1138	79323043	61890388	4303	25228											
PRUNE2	158471	broad.mit.edu	37	chr9	79461527	79461527	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggaagactctcggaactcaaCgttggcatcgctctgctcaa	10	9	10	12	3	4	1	2	0	2	1	6	3	4	3	0	3	3	4	0	3	4	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:79461527C>T	ENST00000376718.3	-	4	535	c.412G>A	c.(412-414)Gtt>Att	p.V138I	PRUNE2_ENST00000376713.3_Missense_Mutation_p.V138I|PRUNE2_ENST00000428286.1_5'UTR	NM_015225.2	NP_056040.2	Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	138					apoptotic process (GO:0006915)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|pyrophosphatase activity (GO:0016462)			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						CGGAACTCAACGTTGGCATCG	0.488																																						ENST00000376718.3																			0				endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						c.(412-414)Gtt>Att		prune homolog 2 (Drosophila)							116	113	114					9																	79461527		2203	4300	6503	SO:0001583	missense	158471				apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity	g.chr9:79461527C>T	BC019095	CCDS47982.1	9q21.32	2013-04-29	2006-11-24	2006-11-24	ENSG00000106772	ENSG00000106772			25209	protein-coding gene	gene with protein product	"olfaxin"	610691	"chromosome 9 open reading frame 65", "KIAA0367"	C9orf65, KIAA0367		16288218	Standard	NM_015225		Approved	BMCC1, BNIPXL, A214N16.3, bA214N16.3	uc010mpk.3	Q8WUY3	OTTHUMG00000020047	ENST00000376718.3:c.412G>A	9.37:g.79461527C>T	ENSP00000365908:p.Val138Ile					PRUNE2_ENST00000376713.3_Missense_Mutation_p.V138I|PRUNE2_ENST00000428286.1_5'UTR	p.V138I	NM_015225.2	NP_056040.2	Q8WUY3	PRUN2_HUMAN			4	535	-			138					B3KYC4|B4DQH8|O15073|Q58A63|Q5JUB6|Q5T304|Q5T476|Q6T2V6|Q6T2V7|Q8N665	Missense_Mutation	SNP	ENST00000376718.3	37	c.412G>A	CCDS47982.1	.	.	.	.	.	.	.	.	.	.	C	5.676	0.309363	0.10733	.	.	ENSG00000106772	ENST00000376718;ENST00000422033;ENST00000376713	T;T	0.13901	2.55;2.55	5.81	-9.2	0.00682	.	0.568820	0.17182	N	0.183838	T	0.03348	0.0097	N	0.08118	0	0.09310	N	0.999999	B;B	0.13594	0.001;0.008	B;B	0.06405	0.0;0.002	T	0.29971	-0.9994	10	0.02654	T	1	.	7.5231	0.27639	0.1263:0.3077:0.4849:0.0812	.	138;138	Q8WUY3;D6RTK6	PRUN2_HUMAN;.	I	138;137;138	ENSP00000365908:V138I;ENSP00000365903:V138I	ENSP00000365903:V138I	V	-	1	0	PRUNE2	78651347	0.001000	0.12720	0.000000	0.03702	0.381000	0.30169	-0.093000	0.11111	-2.125000	0.00821	-1.268000	0.01426	GTT		0.488	PRUNE2-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052730.2	NM_138818		20	25	0	0	0	1	0	20	25					T	79461527	C	T	79461527	3	4	435	1	0	0	0	0	1	0	0	0	12641	536	19	1	8918	1	PRUNE2	9	79461527	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	138484	79461527	61751904	4304	25229											
VPS13A	23230	broad.mit.edu	37	chr9	79875065	79875065	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tcagataaaaaactacaaggGattatggaattgattgaaag	19	10	9	3	0	1	3	1	2	0	1	1	5	1	5	0	2	2	0	0	2	8	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:79875065G>A	ENST00000360280.3	+	23	2612	c.2352G>A	c.(2350-2352)ggG>ggA	p.G784G	VPS13A_ENST00000357409.5_Silent_p.G784G|VPS13A_ENST00000376634.4_Silent_p.G784G|VPS13A_ENST00000376636.3_Silent_p.G784G	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13 homolog A (S. cerevisiae)	784					cell death (GO:0008219)|Golgi to endosome transport (GO:0006895)|locomotory behavior (GO:0007626)|nervous system development (GO:0007399)|protein localization (GO:0008104)|protein transport (GO:0015031)|social behavior (GO:0035176)	dense core granule (GO:0031045)|intracellular (GO:0005622)				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						AACTACAAGGGATTATGGAAT	0.294																																						ENST00000360280.3																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						c.(2350-2352)ggG>ggA		vacuolar protein sorting 13 homolog A (S. cerevisiae)							56	57	56					9																	79875065		2203	4299	6502	SO:0001819	synonymous_variant	23230				Golgi to endosome transport|protein transport	intracellular	protein binding	g.chr9:79875065G>A	AB023203	CCDS6655.1, CCDS6656.1, CCDS47983.1, CCDS55321.1	9q21	2014-01-30	2006-04-04	2004-02-11	ENSG00000197969	ENSG00000197969			1908	protein-coding gene	gene with protein product	"chorein"	605978	"chorea acanthocytosis", "vacuolar protein sorting 13A (yeast)"	CHAC		9382101, 11381253	Standard	NM_001018038		Approved	KIAA0986	uc004akr.3	Q96RL7	OTTHUMG00000020055	ENST00000360280.3:c.2352G>A	9.37:g.79875065G>A						VPS13A_ENST00000357409.5_Silent_p.G784G|VPS13A_ENST00000376634.4_Silent_p.G784G|VPS13A_ENST00000376636.3_Silent_p.G784G	p.G784G	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN			23	2612	+			784					Q5JSX9|Q5JSY0|Q5VYR5|Q702P4|Q709D0|Q86YF8|Q96S61|Q9H995|Q9Y2J1	Silent	SNP	ENST00000360280.3	37	c.2352G>A	CCDS6655.1																																																																																				0.294	VPS13A-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052753.2	NM_015186		34	42	0	0	0	1	0	34	42					A	79875065	G	A	79875065	2	1	435	1	0	0	0	0	0	0	0	1	17186	1161	41	3		3	VPS13A	9	79875065	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	413538	79875065	61338366	4305	25230											
VPS13A	23230	broad.mit.edu	37	chr9	79890990	79890990	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttcttctccaggttttgatcGagttttatcaccttgttgga	6	19	8	8	1	3	1	1	1	2	0	5	3	3	2	2	2	0	3	2	2	1	8	rs200038733		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:79890990G>A	ENST00000360280.3	+	26	2937	c.2677G>A	c.(2677-2679)Gag>Aag	p.E893K	VPS13A_ENST00000357409.5_Missense_Mutation_p.E893K|VPS13A_ENST00000376634.4_Missense_Mutation_p.E893K|VPS13A_ENST00000376636.3_Missense_Mutation_p.E893K	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13 homolog A (S. cerevisiae)	893					cell death (GO:0008219)|Golgi to endosome transport (GO:0006895)|locomotory behavior (GO:0007626)|nervous system development (GO:0007399)|protein localization (GO:0008104)|protein transport (GO:0015031)|social behavior (GO:0035176)	dense core granule (GO:0031045)|intracellular (GO:0005622)				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						GGTTTTGATCGAGTTTTATCA	0.328																																						ENST00000360280.3																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						c.(2677-2679)Gag>Aag		vacuolar protein sorting 13 homolog A (S. cerevisiae)		G	LYS/GLU,LYS/GLU,LYS/GLU,LYS/GLU	0,4404		0,0,2202	96	96	96		2677,2677,2677,2677	4	1	9		96	1,8599		0,1,4299	yes	missense,missense,missense,missense	VPS13A	NM_001018037.1,NM_001018038.2,NM_015186.3,NM_033305.2	56,56,56,56	0,1,6501	AA,AG,GG		0.0116,0.0,0.0077	benign,benign,benign,benign	893/3136,893/3070,893/3096,893/3175	79890990	1,13003	2202	4300	6502	SO:0001583	missense	23230				Golgi to endosome transport|protein transport	intracellular	protein binding	g.chr9:79890990G>A	AB023203	CCDS6655.1, CCDS6656.1, CCDS47983.1, CCDS55321.1	9q21	2014-01-30	2006-04-04	2004-02-11	ENSG00000197969	ENSG00000197969			1908	protein-coding gene	gene with protein product	"chorein"	605978	"chorea acanthocytosis", "vacuolar protein sorting 13A (yeast)"	CHAC		9382101, 11381253	Standard	NM_001018038		Approved	KIAA0986	uc004akr.3	Q96RL7	OTTHUMG00000020055	ENST00000360280.3:c.2677G>A	9.37:g.79890990G>A	ENSP00000353422:p.Glu893Lys					VPS13A_ENST00000357409.5_Missense_Mutation_p.E893K|VPS13A_ENST00000376634.4_Missense_Mutation_p.E893K|VPS13A_ENST00000376636.3_Missense_Mutation_p.E893K	p.E893K	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN			26	2937	+			893					Q5JSX9|Q5JSY0|Q5VYR5|Q702P4|Q709D0|Q86YF8|Q96S61|Q9H995|Q9Y2J1	Missense_Mutation	SNP	ENST00000360280.3	37	c.2677G>A	CCDS6655.1	.	.	.	.	.	.	.	.	.	.	G	8.250	0.808699	0.16467	0.0	1.16E-4	ENSG00000197969	ENST00000376634;ENST00000376636;ENST00000360280;ENST00000357409	T;T;T;T	0.16457	2.34;2.34;2.34;2.34	5.82	3.97	0.46021	.	0.292615	0.33217	N	0.005153	T	0.10121	0.0248	N	0.17082	0.46	0.80722	D	1	B;B;B;B	0.17465	0.002;0.005;0.022;0.009	B;B;B;B	0.06405	0.002;0.001;0.002;0.002	T	0.16335	-1.0406	10	0.23302	T	0.38	.	10.6506	0.45647	0.1344:0.5858:0.2798:0.0	.	893;893;893;893	Q96RL7-3;Q96RL7;Q96RL7-2;Q96RL7-4	.;VP13A_HUMAN;.;.	K	893	ENSP00000365821:E893K;ENSP00000365823:E893K;ENSP00000353422:E893K;ENSP00000349985:E893K	ENSP00000349985:E893K	E	+	1	0	VPS13A	79080810	1.000000	0.71417	0.997000	0.53966	0.850000	0.48378	2.574000	0.46016	0.790000	0.33803	-0.344000	0.07964	GAG		0.328	VPS13A-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052753.2	NM_015186		8	42	0	0	0	1	0	8	42					A	79890990	G	A	79890990	3	1	435	1	0	0	0	0	1	0	0	0	17186	1059	37	2	2779	2	VPS13A	9	79890990	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	15925	79890990	61322441	4306	25231											
VPS13A	23230	broad.mit.edu	37	chr9	79929492	79929492	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttataagtactttaaaaatgTatacagatggctcaacattt	16	15	5	5	0	1	1	1	0	0	1	1	1	1	1	0	1	3	3	0	1	9	8			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:79929492T>C	ENST00000360280.3	+	37	4584	c.4324T>C	c.(4324-4326)Tat>Cat	p.Y1442H	VPS13A_ENST00000357409.5_Missense_Mutation_p.Y1442H|VPS13A_ENST00000423463.2_3'UTR|VPS13A_ENST00000376634.4_Missense_Mutation_p.Y1442H|VPS13A_ENST00000376636.3_Missense_Mutation_p.Y1403H	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13 homolog A (S. cerevisiae)	1442					cell death (GO:0008219)|Golgi to endosome transport (GO:0006895)|locomotory behavior (GO:0007626)|nervous system development (GO:0007399)|protein localization (GO:0008104)|protein transport (GO:0015031)|social behavior (GO:0035176)	dense core granule (GO:0031045)|intracellular (GO:0005622)				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						TTTAAAAATGTATACAGATGG	0.323																																						ENST00000360280.3																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						c.(4324-4326)Tat>Cat		vacuolar protein sorting 13 homolog A (S. cerevisiae)							63	67	66					9																	79929492		2200	4291	6491	SO:0001583	missense	23230				Golgi to endosome transport|protein transport	intracellular	protein binding	g.chr9:79929492T>C	AB023203	CCDS6655.1, CCDS6656.1, CCDS47983.1, CCDS55321.1	9q21	2014-01-30	2006-04-04	2004-02-11	ENSG00000197969	ENSG00000197969			1908	protein-coding gene	gene with protein product	"chorein"	605978	"chorea acanthocytosis", "vacuolar protein sorting 13A (yeast)"	CHAC		9382101, 11381253	Standard	NM_001018038		Approved	KIAA0986	uc004akr.3	Q96RL7	OTTHUMG00000020055	ENST00000360280.3:c.4324T>C	9.37:g.79929492T>C	ENSP00000353422:p.Tyr1442His					VPS13A_ENST00000357409.5_Missense_Mutation_p.Y1442H|VPS13A_ENST00000376634.4_Missense_Mutation_p.Y1442H|VPS13A_ENST00000423463.2_3'UTR|VPS13A_ENST00000376636.3_Missense_Mutation_p.Y1403H	p.Y1442H	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN			37	4584	+			1442					Q5JSX9|Q5JSY0|Q5VYR5|Q702P4|Q709D0|Q86YF8|Q96S61|Q9H995|Q9Y2J1	Missense_Mutation	SNP	ENST00000360280.3	37	c.4324T>C	CCDS6655.1	.	.	.	.	.	.	.	.	.	.	T	19.14	3.770546	0.69992	.	.	ENSG00000197969	ENST00000376634;ENST00000376636;ENST00000360280;ENST00000357409	T;T;T;T	0.49432	0.97;0.78;0.87;0.96	5.57	3.21	0.36854	.	0.429390	0.23585	N	0.046608	T	0.46718	0.1407	L	0.43152	1.355	0.80722	D	1	P;P;D;D	0.53885	0.898;0.874;0.963;0.963	P;B;P;P	0.53809	0.579;0.342;0.735;0.627	T	0.27226	-1.0080	10	0.16896	T	0.51	.	9.6955	0.40154	0.0:0.1452:0.0:0.8548	.	1403;1442;1442;1442	Q96RL7-3;Q96RL7;Q96RL7-2;Q96RL7-4	.;VP13A_HUMAN;.;.	H	1442;1403;1442;1442	ENSP00000365821:Y1442H;ENSP00000365823:Y1403H;ENSP00000353422:Y1442H;ENSP00000349985:Y1442H	ENSP00000349985:Y1442H	Y	+	1	0	VPS13A	79119312	1.000000	0.71417	1.000000	0.80357	0.925000	0.55904	1.324000	0.33712	0.949000	0.37715	0.445000	0.29226	TAT		0.323	VPS13A-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052753.2	NM_015186		21	24	0	0	0	1	0	21	24					C	79929492	T	C	79929492	3	2	435	1	0	0	0	0	1	0	0	0	17186	1638	57	4	4470	4	VPS13A	9	79929492	Missense_Mutation	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	38502	79929492	61283939	4307	25232											
GNA14	9630	broad.mit.edu	37	chr9	80040627	80040627	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aggctttgctctcttccatgCgattctaagtgaaaaacaag	12	12	8	9	1	2	1	0	1	2	0	4	2	3	1	1	1	3	2	1	1	4	4	rs532679687		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:80040627C>T	ENST00000341700.6	-	6	1241	c.728G>A	c.(727-729)cGc>cAc	p.R243H	GNA14_ENST00000464095.1_5'UTR	NM_004297.3	NP_004288.1	O95837	GNA14_HUMAN	guanine nucleotide binding protein (G protein), alpha 14	243					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|blood coagulation (GO:0007596)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|platelet activation (GO:0030168)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|plasma membrane (GO:0005886)	G-protein beta/gamma-subunit complex binding (GO:0031683)|G-protein coupled receptor binding (GO:0001664)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)	p.R243H(1)		endometrium(3)|kidney(1)|large_intestine(7)|lung(4)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	24						CTCTTCCATGCGATTCTAAGT	0.413																																						ENST00000341700.6																			1	Substitution - Missense(1)	p.R243H(1)	large_intestine(1)	endometrium(3)|kidney(1)|large_intestine(7)|lung(4)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	24						c.(727-729)cGc>cAc		guanine nucleotide binding protein (G protein), alpha 14							86	87	87					9																	80040627		2203	4300	6503	SO:0001583	missense	9630				activation of phospholipase C activity by dopamine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|platelet activation|protein ADP-ribosylation	heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity	g.chr9:80040627C>T	AF105201	CCDS6657.1	9q21	2008-05-23			ENSG00000156049	ENSG00000156049			4382	protein-coding gene	gene with protein product		604397				10191087, 17620339	Standard	NM_004297		Approved		uc004aku.3	O95837	OTTHUMG00000020058	ENST00000341700.6:c.728G>A	9.37:g.80040627C>T	ENSP00000365807:p.Arg243His					GNA14_ENST00000464095.1_5'UTR	p.R243H	NM_004297.3	NP_004288.1	O95837	GNA14_HUMAN			6	1241	-			243					B1ALW3	Missense_Mutation	SNP	ENST00000341700.6	37	c.728G>A	CCDS6657.1	.	.	.	.	.	.	.	.	.	.	C	27.1	4.799842	0.90538	.	.	ENSG00000156049	ENST00000341700	D	0.92249	-3.0	5.69	5.69	0.88448	.	0.050910	0.85682	D	0.000000	D	0.97393	0.9147	H	0.97265	3.97	0.48395	D	0.999643	D	0.71674	0.998	D	0.71184	0.972	D	0.98245	1.0490	10	0.87932	D	0	.	14.0528	0.64749	0.0:0.926:0.0:0.074	.	243	O95837	GNA14_HUMAN	H	243	ENSP00000365807:R243H	ENSP00000365807:R243H	R	-	2	0	GNA14	79230447	0.996000	0.38824	1.000000	0.80357	0.943000	0.58893	3.350000	0.52224	2.684000	0.91462	0.650000	0.86243	CGC		0.413	GNA14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052759.1			21	36	0	0	0	1	0	21	36					T	80040627	C	T	80040627	3	4	435	1	0	0	0	0	1	0	0	0	6502	768	27	1	347	1	GNA14	9	80040627	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	111135	80040627	61172804	4308	25233											
PSAT1	29968	broad.mit.edu	37	chr9	80915565	80915565	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttagactacaaaggagttggCattagtgttcttggtaagat	12	14	11	4	0	1	2	0	0	1	2	1	3	1	3	0	3	1	4	0	3	5	7			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:80915565C>T	ENST00000376588.3	+	2	176	c.108C>T	c.(106-108)ggC>ggT	p.G36G	PSAT1_ENST00000347159.2_Silent_p.G36G	NM_058179.2	NP_478059.1	Q9Y617	SERC_HUMAN	phosphoserine aminotransferase 1	36					cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|L-serine biosynthetic process (GO:0006564)|pyridoxine biosynthetic process (GO:0008615)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	O-phospho-L-serine:2-oxoglutarate aminotransferase activity (GO:0004648)|pyridoxal phosphate binding (GO:0030170)			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|urinary_tract(1)	20						AAGGAGTTGGCATTAGTGTTC	0.308																																					Colon(34;187 791 10662 18313 37609)	ENST00000376588.3																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|urinary_tract(1)	20						c.(106-108)ggC>ggT		phosphoserine aminotransferase 1	L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)|Pyridoxine(DB00165)						107	114	112					9																	80915565		2203	4300	6503	SO:0001819	synonymous_variant	29968				L-serine biosynthetic process|pyridoxine biosynthetic process		O-phospho-L-serine:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding	g.chr9:80915565C>T	BC004863	CCDS6659.1, CCDS6660.1	9q21.2	2008-08-11			ENSG00000135069	ENSG00000135069			19129	protein-coding gene	gene with protein product		610936				12633500, 3651428	Standard	NM_058179		Approved	PSA	uc004ala.3	Q9Y617	OTTHUMG00000020066	ENST00000376588.3:c.108C>T	9.37:g.80915565C>T						PSAT1_ENST00000347159.2_Silent_p.G36G	p.G36G	NM_058179.2	NP_478059.1	Q9Y617	SERC_HUMAN			2	176	+			36					Q5T7G5|Q5T7G6|Q96AW2|Q9BQ12	Silent	SNP	ENST00000376588.3	37	c.108C>T	CCDS6660.1																																																																																				0.308	PSAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052777.1	NM_021154		22	22	0	0	0	1	0	22	22					T	80915565	C	T	80915565	2	4	435	1	0	0	0	0	0	0	0	1	12644	697	25	3		3	PSAT1	9	80915565	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	874938	80915565	60297866	4309	25234											
PSAT1	29968	broad.mit.edu	37	chr9	80921334	80921334	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtttgactttatacccgatGtcaagggagcagtactggtt	10	13	11	7	1	1	1	1	1	0	0	1	3	1	2	1	2	3	4	1	2	4	6			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:80921334G>A	ENST00000376588.3	+	5	570	c.502G>A	c.(502-504)Gtc>Atc	p.V168I	PSAT1_ENST00000347159.2_Missense_Mutation_p.V168I	NM_058179.2	NP_478059.1	Q9Y617	SERC_HUMAN	phosphoserine aminotransferase 1	168					cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|L-serine biosynthetic process (GO:0006564)|pyridoxine biosynthetic process (GO:0008615)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	O-phospho-L-serine:2-oxoglutarate aminotransferase activity (GO:0004648)|pyridoxal phosphate binding (GO:0030170)			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|urinary_tract(1)	20						TATACCCGATGTCAAGGGAGC	0.498																																					Colon(34;187 791 10662 18313 37609)	ENST00000376588.3																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|urinary_tract(1)	20						c.(502-504)Gtc>Atc		phosphoserine aminotransferase 1	L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)|Pyridoxine(DB00165)						381	350	361					9																	80921334		2203	4300	6503	SO:0001583	missense	29968				L-serine biosynthetic process|pyridoxine biosynthetic process		O-phospho-L-serine:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding	g.chr9:80921334G>A	BC004863	CCDS6659.1, CCDS6660.1	9q21.2	2008-08-11			ENSG00000135069	ENSG00000135069			19129	protein-coding gene	gene with protein product		610936				12633500, 3651428	Standard	NM_058179		Approved	PSA	uc004ala.3	Q9Y617	OTTHUMG00000020066	ENST00000376588.3:c.502G>A	9.37:g.80921334G>A	ENSP00000365773:p.Val168Ile					PSAT1_ENST00000347159.2_Missense_Mutation_p.V168I	p.V168I	NM_058179.2	NP_478059.1	Q9Y617	SERC_HUMAN			5	570	+			168					Q5T7G5|Q5T7G6|Q96AW2|Q9BQ12	Missense_Mutation	SNP	ENST00000376588.3	37	c.502G>A	CCDS6660.1	.	.	.	.	.	.	.	.	.	.	G	15.86	2.958475	0.53400	.	.	ENSG00000135069	ENST00000347159;ENST00000376588	D;D	0.84516	-1.86;-1.86	5.85	4.95	0.65309	Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);Aminotransferase, class V/Cysteine desulfurase (1);	0.169570	0.52532	N	0.000069	T	0.75243	0.3823	N	0.20574	0.59	0.45822	D	0.998694	B;B	0.19200	0.034;0.001	B;B	0.18871	0.023;0.011	T	0.68899	-0.5287	10	0.21540	T	0.41	-14.7637	14.699	0.69142	0.0692:0.0:0.9308:0.0	.	168;168	Q9Y617-2;Q9Y617	.;SERC_HUMAN	I	168	ENSP00000317606:V168I;ENSP00000365773:V168I	ENSP00000317606:V168I	V	+	1	0	PSAT1	80111154	1.000000	0.71417	0.992000	0.48379	0.980000	0.70556	3.963000	0.56773	1.475000	0.48197	0.655000	0.94253	GTC		0.498	PSAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052777.1	NM_021154		109	197	0	0	0	1	0	109	197					A	80921334	G	A	80921334	3	1	435	1	0	0	0	0	1	0	0	0	12644	1377	48	3	520	3	PSAT1	9	80921334	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	5769	80921334	60292097	4310	25235											
TLE4	7091	broad.mit.edu	37	chr9	82333770	82333770	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accacggggaggtggtgtgcGcggtgaccatcagcaacccc	8	5	15	13	3	1	1	1	1	0	0	1	2	1	2	4	5	3	1	4	5	1	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:82333770G>A	ENST00000376552.2	+	15	2492	c.1474G>A	c.(1474-1476)Gcg>Acg	p.A492T	TLE4_ENST00000376520.4_Missense_Mutation_p.A524T|TLE4_ENST00000265284.6_Missense_Mutation_p.A467T|TLE4_ENST00000376537.4_Missense_Mutation_p.A524T|TLE4_ENST00000376544.3_Missense_Mutation_p.A423T|TLE4_ENST00000376534.4_Missense_Mutation_p.A129T	NM_007005.3	NP_008936.2	Q04727	TLE4_HUMAN	transducin-like enhancer of split 4	492					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|Wnt signaling pathway (GO:0016055)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|transcription corepressor activity (GO:0003714)			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	39						GGTGGTGTGCGCGGTGACCAT	0.622																																						ENST00000376520.4																			0				breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	39						c.(1570-1572)Gcg>Acg		transducin-like enhancer of split 4 (E(sp1) homolog, Drosophila)							139	128	132					9																	82333770		2203	4300	6503	SO:0001583	missense	7091							g.chr9:82333770G>A	M99439	CCDS43837.1, CCDS65069.1, CCDS65070.1, CCDS75851.1	9q21.32	2014-03-07	2014-03-07		ENSG00000106829	ENSG00000106829		"WD repeat domain containing"	11840	protein-coding gene	gene with protein product		605132	"transducin-like enhancer of split 4, homolog of Drosophila E(sp1)", "transducin-like enhancer of split 4 (E(sp1) homolog, Drosophila)"			8365415	Standard	XM_005252167		Approved	E(spI), ESG, GRG4	uc004alc.3	Q04727	OTTHUMG00000020072	ENST00000376552.2:c.1474G>A	9.37:g.82333770G>A	ENSP00000365735:p.Ala492Thr					TLE4_ENST00000376552.2_Missense_Mutation_p.A492T|TLE4_ENST00000376537.4_Missense_Mutation_p.A524T|TLE4_ENST00000265284.6_Missense_Mutation_p.A467T|TLE4_ENST00000376534.4_Missense_Mutation_p.A129T|TLE4_ENST00000376544.3_Missense_Mutation_p.A423T	p.A524T			O60756	BCE1_HUMAN			16	2398	+			0					F8W6T6|Q3ZCS1|Q5T1Y2|Q6PCB3|Q9BZ07|Q9BZ08|Q9BZ09|Q9NSL3|Q9ULF9	Missense_Mutation	SNP	ENST00000376552.2	37	c.1570G>A	CCDS43837.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	37|37	6.140048|6.140048	0.97320|0.97320	.|.	.|.	ENSG00000106829|ENSG00000106829	ENST00000376552;ENST00000376544;ENST00000376520;ENST00000376537;ENST00000376534;ENST00000265284|ENST00000496114	T;T;T;T;T;T|.	0.12774|.	2.65;2.65;2.65;2.65;2.65;2.65|.	6.07|6.07	6.07|6.07	0.98685|0.98685	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.85600|0.85600	0.5734|0.5734	M|M	0.88842|0.88842	2.985|2.985	0.80722|0.80722	D|D	1|1	D;D;D;D|.	0.89917|.	0.989;1.0;1.0;0.991|.	P;D;D;P|.	0.76575|.	0.752;0.988;0.979;0.839|.	D|D	0.86175|0.86175	0.1602|0.1602	10|5	0.66056|.	D|.	0.02|.	-16.6787|-16.6787	20.6439|20.6439	0.99570|0.99570	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	467;423;524;492|.	F8W6T6;Q04727-2;Q04727-3;Q04727|.	.;.;.;TLE4_HUMAN|.	T|H	492;423;524;524;129;467|307	ENSP00000365735:A492T;ENSP00000365727:A423T;ENSP00000365703:A524T;ENSP00000365720:A524T;ENSP00000365717:A129T;ENSP00000265284:A467T|.	ENSP00000265284:A467T|.	A|R	+|+	1|2	0|0	TLE4|TLE4	81523590|81523590	1.000000|1.000000	0.71417|0.71417	0.617000|0.617000	0.29091|0.29091	0.918000|0.918000	0.54935|0.54935	9.869000|9.869000	0.99810|0.99810	2.884000|2.884000	0.98904|0.98904	0.655000|0.655000	0.94253|0.94253	GCG|CGC		0.622	TLE4-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052792.4	XM_212237		22	41	0	0	0	1	0	22	41					A	82333770	G	A	82333770	3	1	435	1	0	0	0	0	1	0	0	0	15938	1087	38	1	1532	1	TLE4	9	82333770	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	1412436	82333770	58879661	4311	25236											
TLE1	7088	broad.mit.edu	37	chr9	84208159	84208159	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaagggacaggctgcatctgAccgtctgcagtaacgtggaa	12	7	13	9	2	2	1	0	1	2	0	2	3	2	3	1	3	3	4	1	3	3	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:84208159A>C	ENST00000376499.3	-	15	2426	c.1362T>G	c.(1360-1362)ggT>ggG	p.G454G		NM_005077.3	NP_005068.2	Q04724	TLE1_HUMAN	transducin-like enhancer of split 1 (E(sp1) homolog, Drosophila)	454					multicellular organismal development (GO:0007275)|negative regulation of anoikis (GO:2000811)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of Wnt signaling pathway (GO:0030178)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|positive regulation of gene expression (GO:0010628)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|identical protein binding (GO:0042802)|RNA polymerase II transcription corepressor activity (GO:0001106)|transcription factor binding (GO:0008134)			NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	29						GCTGCATCTGACCGTCTGCAG	0.542																																					NSCLC(155;1437 1995 30668 39354 45875)|Melanoma(16;266 781 14000 47728 51870)	ENST00000376499.3																			0				NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	29						c.(1360-1362)ggT>ggG		transducin-like enhancer of split 1 (E(sp1) homolog, Drosophila)							77	72	74					9																	84208159		2203	4300	6503	SO:0001819	synonymous_variant	7088				negative regulation of Wnt receptor signaling pathway|organ morphogenesis|transcription, DNA-dependent|Wnt receptor signaling pathway		transcription factor binding	g.chr9:84208159A>C		CCDS6661.1	9q21.32	2013-01-10	2001-11-28		ENSG00000196781	ENSG00000196781		"WD repeat domain containing"	11837	protein-coding gene	gene with protein product	"enhancer of split groucho 1"	600189	"transducin-like enhancer of split 1, homolog of Drosophila E(sp1)"			8365415, 8808280	Standard	NM_005077		Approved	ESG1, GRG1, ESG	uc004aly.3	Q04724	OTTHUMG00000021008	ENST00000376499.3:c.1362T>G	9.37:g.84208159A>C							p.G454G	NM_005077.3	NP_005068.2	Q04724	TLE1_HUMAN			15	2426	-			454					A8K495|Q5T3G4|Q969V9	Silent	SNP	ENST00000376499.3	37	c.1362T>G	CCDS6661.1																																																																																				0.542	TLE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055407.1	NM_005077		14	30	0	0	0	1	0	14	30					C	84208159	A	C	84208159	2	2	435	1	0	0	0	0	0	0	0	1	15935	262	10	5		5	TLE1	9	84208159	Silent	SNP	A	TCGA-XK-AAIW-01A-11D-A41K-08	1874389	84208159	57005272	4312	25237											
TLE1	7088	broad.mit.edu	37	chr9	84226744	84226744	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgcggcgctcatctggggCgacatgttgtgtaaactggc	6	10	15	10	3	2	0	1	0	1	0	2	1	2	0	0	4	2	4	0	4	2	2	rs372238712	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:84226744C>T	ENST00000376499.3	-	13	2258	c.1194G>A	c.(1192-1194)tcG>tcA	p.S398S	TLE1_ENST00000376472.1_Silent_p.S73S|TLE1_ENST00000464999.1_5'Flank|TLE1_ENST00000376484.1_Silent_p.S73S	NM_005077.3	NP_005068.2	Q04724	TLE1_HUMAN	transducin-like enhancer of split 1 (E(sp1) homolog, Drosophila)	398	Pro/Ser-rich.				multicellular organismal development (GO:0007275)|negative regulation of anoikis (GO:2000811)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of Wnt signaling pathway (GO:0030178)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|positive regulation of gene expression (GO:0010628)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|identical protein binding (GO:0042802)|RNA polymerase II transcription corepressor activity (GO:0001106)|transcription factor binding (GO:0008134)			NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	29						TCATCTGGGGCGACATGTTGT	0.687													C|||	47	0.00938498	8e-04	0	5008	,	,		14132	0		0	False		,,,				2504	0.047				NSCLC(155;1437 1995 30668 39354 45875)|Melanoma(16;266 781 14000 47728 51870)	ENST00000376499.3																			0				NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	29						c.(1192-1194)tcG>tcA		transducin-like enhancer of split 1 (E(sp1) homolog, Drosophila)							29	33	31					9																	84226744		2203	4300	6503	SO:0001819	synonymous_variant	7088				negative regulation of Wnt receptor signaling pathway|organ morphogenesis|transcription, DNA-dependent|Wnt receptor signaling pathway		transcription factor binding	g.chr9:84226744C>T		CCDS6661.1	9q21.32	2013-01-10	2001-11-28		ENSG00000196781	ENSG00000196781		"WD repeat domain containing"	11837	protein-coding gene	gene with protein product	"enhancer of split groucho 1"	600189	"transducin-like enhancer of split 1, homolog of Drosophila E(sp1)"			8365415, 8808280	Standard	NM_005077		Approved	ESG1, GRG1, ESG	uc004aly.3	Q04724	OTTHUMG00000021008	ENST00000376499.3:c.1194G>A	9.37:g.84226744C>T						TLE1_ENST00000376484.1_Silent_p.S73S|TLE1_ENST00000376472.1_Silent_p.S73S	p.S398S	NM_005077.3	NP_005068.2	Q04724	TLE1_HUMAN			13	2258	-			398			Pro/Ser-rich.		A8K495|Q5T3G4|Q969V9	Silent	SNP	ENST00000376499.3	37	c.1194G>A	CCDS6661.1																																																																																				0.687	TLE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055407.1	NM_005077		6	14	0	0	0	1	0	6	14					T	84226744	C	T	84226744	2	4	435	1	0	0	0	0	0	0	0	1	15935	755	27	1		1	TLE1	9	84226744	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	18585	84226744	56986687	4313	25238											
TLE1	7088	broad.mit.edu	37	chr9	84226784	84226784	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cgtaggcagcgcctgggctgGtcagctcgccgttcatgcca	5	8	14	14	4	2	0	2	0	0	0	3	0	2	0	3	3	3	5	3	3	1	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:84226784G>A	ENST00000376499.3	-	13	2218	c.1154C>T	c.(1153-1155)aCc>aTc	p.T385I	TLE1_ENST00000376472.1_Missense_Mutation_p.T60I|TLE1_ENST00000464999.1_5'UTR|TLE1_ENST00000376484.1_Missense_Mutation_p.T60I	NM_005077.3	NP_005068.2	Q04724	TLE1_HUMAN	transducin-like enhancer of split 1 (E(sp1) homolog, Drosophila)	385	Pro/Ser-rich.				multicellular organismal development (GO:0007275)|negative regulation of anoikis (GO:2000811)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of Wnt signaling pathway (GO:0030178)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|positive regulation of gene expression (GO:0010628)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|identical protein binding (GO:0042802)|RNA polymerase II transcription corepressor activity (GO:0001106)|transcription factor binding (GO:0008134)			NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	29						GCCTGGGCTGGTCAGCTCGCC	0.672																																					NSCLC(155;1437 1995 30668 39354 45875)|Melanoma(16;266 781 14000 47728 51870)	ENST00000376499.3																			0				NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	29						c.(1153-1155)aCc>aTc		transducin-like enhancer of split 1 (E(sp1) homolog, Drosophila)							47	51	50					9																	84226784		2203	4300	6503	SO:0001583	missense	7088				negative regulation of Wnt receptor signaling pathway|organ morphogenesis|transcription, DNA-dependent|Wnt receptor signaling pathway		transcription factor binding	g.chr9:84226784G>A		CCDS6661.1	9q21.32	2013-01-10	2001-11-28		ENSG00000196781	ENSG00000196781		"WD repeat domain containing"	11837	protein-coding gene	gene with protein product	"enhancer of split groucho 1"	600189	"transducin-like enhancer of split 1, homolog of Drosophila E(sp1)"			8365415, 8808280	Standard	NM_005077		Approved	ESG1, GRG1, ESG	uc004aly.3	Q04724	OTTHUMG00000021008	ENST00000376499.3:c.1154C>T	9.37:g.84226784G>A	ENSP00000365682:p.Thr385Ile					TLE1_ENST00000464999.1_5'UTR|TLE1_ENST00000376484.1_Missense_Mutation_p.T60I|TLE1_ENST00000376472.1_Missense_Mutation_p.T60I	p.T385I	NM_005077.3	NP_005068.2	Q04724	TLE1_HUMAN			13	2218	-			385			Pro/Ser-rich.		A8K495|Q5T3G4|Q969V9	Missense_Mutation	SNP	ENST00000376499.3	37	c.1154C>T	CCDS6661.1	.	.	.	.	.	.	.	.	.	.	G	31	5.101868	0.94245	.	.	ENSG00000196781	ENST00000376499;ENST00000376484;ENST00000376472	T;T;T	0.51817	0.96;0.69;0.69	5.84	4.93	0.64822	.	0.158410	0.56097	D	0.000022	T	0.62780	0.2456	L	0.55481	1.735	0.49299	D	0.999779	P;B;P;B	0.50156	0.932;0.104;0.616;0.402	P;B;B;B	0.61397	0.888;0.187;0.258;0.365	T	0.66488	-0.5911	10	0.87932	D	0	-21.6339	16.1851	0.81946	0.0:0.0:0.8657:0.1343	.	311;370;411;385	B4E345;B4DEF9;Q59EF7;Q04724	.;.;.;TLE1_HUMAN	I	385;60;60	ENSP00000365682:T385I;ENSP00000365667:T60I;ENSP00000365655:T60I	ENSP00000365655:T60I	T	-	2	0	TLE1	83416604	1.000000	0.71417	1.000000	0.80357	0.794000	0.44872	9.869000	0.99810	1.443000	0.47586	0.655000	0.94253	ACC		0.672	TLE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055407.1	NM_005077		21	16	0	0	0	1	0	21	16					A	84226784	G	A	84226784	3	1	435	1	0	0	0	0	1	0	0	0	15935	1261	44	3	1190	3	TLE1	9	84226784	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	40	84226784	56986647	4314	25239											
RASEF	158158	broad.mit.edu	37	chr9	85615852	85615852	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tccaaagctctcctgcacccCgtgtgacctctgaaatcccc	8	9	6	18	1	2	2	0	2	2	0	5	2	4	2	7	0	2	2	7	0	2	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:85615852C>T	ENST00000376447.3	-	10	1656	c.1396G>A	c.(1396-1398)Ggg>Agg	p.G466R		NM_152573.2	NP_689786.2	Q8IZ41	RASEF_HUMAN	RAS and EF-hand domain containing	466					protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|GTP binding (GO:0005525)	p.G466R(1)		NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(4)|liver(1)|lung(15)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	33						TCCTGCACCCCGTGTGACCTC	0.502																																						ENST00000376447.3																			1	Substitution - Missense(1)	p.G466R(1)	lung(1)	NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(4)|liver(1)|lung(15)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	33						c.(1396-1398)Ggg>Agg		RAS and EF-hand domain containing							91	78	83					9																	85615852		2203	4300	6503	SO:0001583	missense	158158				protein transport|small GTPase mediated signal transduction	perinuclear region of cytoplasm	calcium ion binding|GTP binding	g.chr9:85615852C>T	AK056176	CCDS6662.1	9q21.33	2014-05-09	2004-06-11	2004-06-16	ENSG00000165105	ENSG00000165105		"EF-hand domain containing", "RAB, member RAS oncogene"	26464	protein-coding gene	gene with protein product		611344	"RAB45, member RAS oncogene family"	RAB45		17448446	Standard	NM_152573		Approved	FLJ31614	uc004amo.2	Q8IZ41	OTTHUMG00000020100	ENST00000376447.3:c.1396G>A	9.37:g.85615852C>T	ENSP00000365630:p.Gly466Arg						p.G466R	NM_152573.2	NP_689786.2	Q8IZ41	RASEF_HUMAN			10	1656	-			466					A6NC29|Q96N04	Missense_Mutation	SNP	ENST00000376447.3	37	c.1396G>A	CCDS6662.1	.	.	.	.	.	.	.	.	.	.	C	0.671	-0.801775	0.02841	.	.	ENSG00000165105	ENST00000376447	T	0.59906	0.23	5.7	-0.0415	0.13867	.	1.005260	0.07989	N	0.986812	T	0.22742	0.0549	N	0.00707	-1.245	0.09310	N	0.999998	B	0.16603	0.018	B	0.06405	0.002	T	0.15752	-1.0426	10	0.38643	T	0.18	.	5.3097	0.15823	0.2571:0.3983:0.0:0.3446	.	466	Q8IZ41	RASEF_HUMAN	R	466	ENSP00000365630:G466R	ENSP00000365630:G466R	G	-	1	0	RASEF	84805672	0.000000	0.05858	0.001000	0.08648	0.136000	0.21042	0.426000	0.21363	0.042000	0.15717	-0.225000	0.12378	GGG		0.502	RASEF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052825.1	NM_152573		8	41	0	0	0	1	0	8	41					T	85615852	C	T	85615852	3	4	435	1	0	0	0	0	1	0	0	0	13068	652	23	2	858	2	RASEF	9	85615852	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	1389068	85615852	55597579	4315	25240											
RASEF	158158	broad.mit.edu	37	chr9	85640744	85640744	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctttgaagtctgatctcaCggatgaagttctttataaca	11	15	8	7	1	3	3	1	3	3	0	4	4	3	4	0	1	2	2	0	1	4	5	rs139684719	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:85640744C>T	ENST00000376447.3	-	2	784	c.524G>A	c.(523-525)cGt>cAt	p.R175H		NM_152573.2	NP_689786.2	Q8IZ41	RASEF_HUMAN	RAS and EF-hand domain containing	175					protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|GTP binding (GO:0005525)			NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(4)|liver(1)|lung(15)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	33						TCTGATCTCACGGATGAAGTT	0.403																																						ENST00000376447.3																			0				NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(4)|liver(1)|lung(15)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	33						c.(523-525)cGt>cAt		RAS and EF-hand domain containing		C	HIS/ARG	7,4399	12.9+/-30.5	0,7,2196	203	180	188		524	4.2	0.3	9	dbSNP_134	188	0,8600		0,0,4300	yes	missense	RASEF	NM_152573.2	29	0,7,6496	TT,TC,CC		0.0,0.1589,0.0538	probably-damaging	175/741	85640744	7,12999	2203	4300	6503	SO:0001583	missense	158158				protein transport|small GTPase mediated signal transduction	perinuclear region of cytoplasm	calcium ion binding|GTP binding	g.chr9:85640744C>T	AK056176	CCDS6662.1	9q21.33	2014-05-09	2004-06-11	2004-06-16	ENSG00000165105	ENSG00000165105		"EF-hand domain containing", "RAB, member RAS oncogene"	26464	protein-coding gene	gene with protein product		611344	"RAB45, member RAS oncogene family"	RAB45		17448446	Standard	NM_152573		Approved	FLJ31614	uc004amo.2	Q8IZ41	OTTHUMG00000020100	ENST00000376447.3:c.524G>A	9.37:g.85640744C>T	ENSP00000365630:p.Arg175His						p.R175H	NM_152573.2	NP_689786.2	Q8IZ41	RASEF_HUMAN			2	784	-			175					A6NC29|Q96N04	Missense_Mutation	SNP	ENST00000376447.3	37	c.524G>A	CCDS6662.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	18.67	3.673482	0.67928	0.001589	0.0	ENSG00000165105	ENST00000376447	T	0.61158	0.13	5.99	4.17	0.49024	.	0.121669	0.56097	N	0.000024	T	0.53562	0.1804	L	0.50333	1.59	0.80722	D	1	D	0.56746	0.977	P	0.44597	0.454	T	0.56902	-0.7902	10	0.66056	D	0.02	.	11.6867	0.51490	0.0:0.8055:0.0:0.1945	.	175	Q8IZ41	RASEF_HUMAN	H	175	ENSP00000365630:R175H	ENSP00000365630:R175H	R	-	2	0	RASEF	84830564	0.706000	0.27856	0.294000	0.24946	0.945000	0.59286	1.268000	0.33062	0.885000	0.36088	0.655000	0.94253	CGT		0.403	RASEF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052825.1	NM_152573		43	70	0	0	0	1	0	43	70					T	85640744	C	T	85640744	3	4	435	1	0	0	0	0	1	0	0	0	13068	536	19	1	1762	1	RASEF	9	85640744	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	24892	85640744	55572687	4316	25241											
FRMD3	257019	broad.mit.edu	37	chr9	85863022	85863022	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	acaaagagcagcagtcccagGcccaccacaaggagcctgga	14	2	11	14	0	0	1	0	0	0	1	1	3	1	3	4	3	3	2	4	3	2	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:85863022G>A	ENST00000304195.3	-	14	1811	c.1605C>T	c.(1603-1605)ggC>ggT	p.G535G	FRMD3_ENST00000465485.1_5'UTR|FRMD3_ENST00000376434.1_Silent_p.G341G|FRMD3_ENST00000376438.1_Silent_p.G535G|FRMD3_ENST00000328788.1_Silent_p.G192G	NM_001244960.1|NM_174938.5	NP_001231889.1|NP_777598.3	A2A2Y4	FRMD3_HUMAN	FERM domain containing 3	535						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)|integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|liver(1)|lung(15)|ovary(1)|upper_aerodigestive_tract(1)	30						GCAGTCCCAGGCCCACCACAA	0.527																																						ENST00000304195.3																			0				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|liver(1)|lung(15)|ovary(1)|upper_aerodigestive_tract(1)	30						c.(1603-1605)ggC>ggT		FERM domain containing 3							52	58	56					9																	85863022		1951	4143	6094	SO:0001819	synonymous_variant	257019					cytoplasm|cytoskeleton|extrinsic to membrane|integral to membrane	cytoskeletal protein binding	g.chr9:85863022G>A	AK094281	CCDS43840.1, CCDS59131.1, CCDS59132.1, CCDS59133.1, CCDS75852.1	9q21.33	2008-02-05			ENSG00000172159	ENSG00000172159			24125	protein-coding gene	gene with protein product		607619				12601556	Standard	NM_174938		Approved	EPB41L4O, MGC20553	uc004ams.2	A2A2Y4	OTTHUMG00000020103	ENST00000304195.3:c.1605C>T	9.37:g.85863022G>A						FRMD3_ENST00000465485.1_5'UTR|FRMD3_ENST00000328788.1_Silent_p.G192G|FRMD3_ENST00000376438.1_Silent_p.G535G|FRMD3_ENST00000376434.1_Silent_p.G341G	p.G535G	NM_001244960.1|NM_174938.5	NP_001231889.1|NP_777598.3	A2A2Y4	FRMD3_HUMAN			14	1811	-			535					A8MQB0|B4DN14|Q53EP2|Q5JV59|Q5VZA1|Q86WP8|Q8IZ44|Q8N3Y5|Q8N9L2	Silent	SNP	ENST00000304195.3	37	c.1605C>T	CCDS43840.1																																																																																				0.527	FRMD3-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157355.1	NM_174938		11	14	0	0	0	1	0	11	14					A	85863022	G	A	85863022	2	1	435	1	0	0	0	0	0	0	0	1	6050	1190	42	3		3	FRMD3	9	85863022	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	222278	85863022	55350409	4317	25242											
KIF27	55582	broad.mit.edu	37	chr9	86514598	86514598	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcagtctattcactttttgcGcttctttcaaagatacagca	10	15	6	10	1	4	1	2	0	2	1	4	1	4	1	0	0	3	3	0	0	3	7	rs550945409		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:86514598G>A	ENST00000297814.2	-	5	1723	c.1580C>T	c.(1579-1581)gCg>gTg	p.A527V	KIF27_ENST00000334204.2_Missense_Mutation_p.A527V|KIF27_ENST00000413982.1_Missense_Mutation_p.A527V	NM_017576.1	NP_060046.1	Q86VH2	KIF27_HUMAN	kinesin family member 27	527					ATP catabolic process (GO:0006200)|cilium assembly (GO:0042384)|epithelial cilium movement (GO:0003351)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|smoothened signaling pathway (GO:0007224)|ventricular system development (GO:0021591)	cilium (GO:0005929)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(7)|lung(17)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	43						CACTTTTTGCGCTTCTTTCAA	0.363													G|||	1	0.000199681	8e-04	0	5008	,	,		18980	0		0	False		,,,				2504	0					ENST00000297814.2																			0				breast(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(7)|lung(17)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	43						c.(1579-1581)gCg>gTg		kinesin family member 27							165	128	141					9																	86514598		2203	4300	6503	SO:0001583	missense	55582				cilium assembly|microtubule-based movement	cilium|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr9:86514598G>A	AY237536	CCDS6665.1, CCDS65071.1, CCDS65072.1	9q21.32	2008-03-03			ENSG00000165115	ENSG00000165115		"Kinesins"	18632	protein-coding gene	gene with protein product		611253					Standard	NM_017576		Approved	DKFZp434D0917	uc004ana.4	Q86VH2	OTTHUMG00000020109	ENST00000297814.2:c.1580C>T	9.37:g.86514598G>A	ENSP00000297814:p.Ala527Val					KIF27_ENST00000413982.1_Missense_Mutation_p.A527V|KIF27_ENST00000334204.2_Missense_Mutation_p.A527V	p.A527V	NM_017576.1	NP_060046.1	Q86VH2	KIF27_HUMAN			5	1723	-			527					B2RTR8|Q5T6W0|Q86VH0|Q86VH1|Q9UF54	Missense_Mutation	SNP	ENST00000297814.2	37	c.1580C>T	CCDS6665.1	.	.	.	.	.	.	.	.	.	.	G	13.05	2.120996	0.37436	.	.	ENSG00000165115	ENST00000297814;ENST00000413982;ENST00000334204	T;T;T	0.51817	0.69;0.69;0.69	3.97	3.07	0.35406	.	0.000000	0.53938	D	0.000053	T	0.46268	0.1384	M	0.76328	2.33	0.35844	D	0.826285	B;B;B	0.27264	0.14;0.173;0.033	B;B;B	0.24974	0.019;0.057;0.008	T	0.54377	-0.8303	10	0.37606	T	0.19	.	11.4284	0.50025	0.0902:0.0:0.9098:0.0	.	527;527;527	Q86VH2-3;Q86VH2-2;Q86VH2	.;.;KIF27_HUMAN	V	527	ENSP00000297814:A527V;ENSP00000401688:A527V;ENSP00000333928:A527V	ENSP00000297814:A527V	A	-	2	0	KIF27	85704418	0.992000	0.36948	0.938000	0.37757	0.650000	0.38633	2.121000	0.41977	0.881000	0.35993	-0.224000	0.12420	GCG		0.363	KIF27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052861.1	NM_017576		39	69	0	0	0	1	0	39	69					A	86514598	G	A	86514598	3	1	435	1	0	0	0	0	1	0	0	0	8296	1087	38	1	2681	1	KIF27	9	86514598	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	651576	86514598	54698833	4318	25243											
KIF27	55582	broad.mit.edu	37	chr9	86518655	86518655	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttgaatggattctttgaaccGttcaccagtattccccgttt	8	16	7	10	2	2	2	1	2	1	0	3	3	3	3	4	1	1	3	4	1	3	7	rs139609439		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:86518655G>A	ENST00000297814.2	-	4	921	c.778C>T	c.(778-780)Cgg>Tgg	p.R260W	KIF27_ENST00000334204.2_Missense_Mutation_p.R260W|KIF27_ENST00000413982.1_Missense_Mutation_p.R260W	NM_017576.1	NP_060046.1	Q86VH2	KIF27_HUMAN	kinesin family member 27	260	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|cilium assembly (GO:0042384)|epithelial cilium movement (GO:0003351)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|smoothened signaling pathway (GO:0007224)|ventricular system development (GO:0021591)	cilium (GO:0005929)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(7)|lung(17)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	43						TCTTTGAACCGTTCACCAGTA	0.433													G|||	1	0.000199681	0	0	5008	,	,		19428	0		0.001	False		,,,				2504	0					ENST00000297814.2																			0				breast(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(7)|lung(17)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	43						c.(778-780)Cgg>Tgg		kinesin family member 27							70	71	71					9																	86518655		2203	4300	6503	SO:0001583	missense	55582				cilium assembly|microtubule-based movement	cilium|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr9:86518655G>A	AY237536	CCDS6665.1, CCDS65071.1, CCDS65072.1	9q21.32	2008-03-03			ENSG00000165115	ENSG00000165115		"Kinesins"	18632	protein-coding gene	gene with protein product		611253					Standard	NM_017576		Approved	DKFZp434D0917	uc004ana.4	Q86VH2	OTTHUMG00000020109	ENST00000297814.2:c.778C>T	9.37:g.86518655G>A	ENSP00000297814:p.Arg260Trp					KIF27_ENST00000413982.1_Missense_Mutation_p.R260W|KIF27_ENST00000334204.2_Missense_Mutation_p.R260W	p.R260W	NM_017576.1	NP_060046.1	Q86VH2	KIF27_HUMAN			4	921	-			260			Kinesin-motor.		B2RTR8|Q5T6W0|Q86VH0|Q86VH1|Q9UF54	Missense_Mutation	SNP	ENST00000297814.2	37	c.778C>T	CCDS6665.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	G	18.78	3.695862	0.68386	.	.	ENSG00000165115	ENST00000297814;ENST00000413982;ENST00000334204	T;T;T	0.75938	-0.98;-0.98;-0.98	5.66	5.66	0.87406	Kinesin, motor domain (4);	0.000000	0.51477	D	0.000094	D	0.92344	0.7571	H	0.99634	4.67	0.45330	D	0.998326	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;1.0	D	0.94810	0.7978	10	0.87932	D	0	.	13.2616	0.60108	0.0:0.0:0.7227:0.2773	.	260;260;260	Q86VH2-3;Q86VH2-2;Q86VH2	.;.;KIF27_HUMAN	W	260	ENSP00000297814:R260W;ENSP00000401688:R260W;ENSP00000333928:R260W	ENSP00000297814:R260W	R	-	1	2	KIF27	85708475	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.000000	0.40816	2.657000	0.90304	0.655000	0.94253	CGG		0.433	KIF27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052861.1	NM_017576		22	48	0	0	0	1	0	22	48					A	86518655	G	A	86518655	3	1	435	1	0	0	0	0	1	0	0	0	8296	1144	40	1	3487	1	KIF27	9	86518655	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	4057	86518655	54694776	4319	25244											
RMI1	80010	broad.mit.edu	37	chr9	86617190	86617190	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	agataataaaataaaacaaaCcagcagttcagatagccatt	21	8	5	7	0	1	2	1	0	0	2	1	2	1	2	2	0	4	2	2	0	7	6			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:86617190C>T	ENST00000325875.3	+	3	1621	c.1289C>T	c.(1288-1290)aCc>aTc	p.T430I		NM_024945.2	NP_079221.2	Q9H9A7	RMI1_HUMAN	RecQ mediated genome instability 1	430					DNA replication (GO:0006260)|glucose homeostasis (GO:0042593)|multicellular organism growth (GO:0035264)|reduction of food intake in response to dietary excess (GO:0002023)|response to glucose (GO:0009749)	nucleus (GO:0005634)				biliary_tract(1)|central_nervous_system(1)|kidney(2)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	18						ATAAAACAAACCAGCAGTTCA	0.284																																						ENST00000325875.3																			0				biliary_tract(1)|central_nervous_system(1)|kidney(2)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	18						c.(1288-1290)aCc>aTc		RecQ mediated genome instability 1							37	44	42					9																	86617190		2182	4282	6464	SO:0001583	missense	80010				DNA replication	nucleus		g.chr9:86617190C>T	AK022950	CCDS6669.1	9q22.1	2013-06-10	2013-06-10	2006-06-12	ENSG00000178966	ENSG00000178966			25764	protein-coding gene	gene with protein product	"BLM-Associated Polypeptide, 75 kDa"	610404	"chromosome 9 open reading frame 76", "RMI1, RecQ mediated genome instability 1, homolog (S. cerevisiae)"	C9orf76		15775963, 20826341	Standard	NM_024945		Approved	FLJ12888, BLAP75	uc004anq.4	Q9H9A7	OTTHUMG00000020113	ENST00000325875.3:c.1289C>T	9.37:g.86617190C>T	ENSP00000317039:p.Thr430Ile						p.T430I	NM_024945.2	NP_079221.2	Q9H9A7	RMI1_HUMAN			3	1621	+			430					Q05BX1|Q05CW3|Q5SQG8|Q5SQG9|Q6P1Q4|Q6PI89|Q7Z6L6	Missense_Mutation	SNP	ENST00000325875.3	37	c.1289C>T	CCDS6669.1	.	.	.	.	.	.	.	.	.	.	C	5.878	0.346056	0.11126	.	.	ENSG00000178966	ENST00000325875	T	0.32515	1.45	5.21	-2.81	0.05805	.	1.540700	0.03547	N	0.224886	T	0.12817	0.0311	N	0.08118	0	0.09310	N	1	B	0.11235	0.004	B	0.09377	0.004	T	0.10776	-1.0615	9	.	.	.	0.8107	1.4715	0.02417	0.1217:0.3655:0.2369:0.276	.	430	Q9H9A7	RMI1_HUMAN	I	430	ENSP00000317039:T430I	.	T	+	2	0	RMI1	85807010	0.000000	0.05858	0.000000	0.03702	0.907000	0.53573	-0.344000	0.07780	-0.511000	0.06514	0.655000	0.94253	ACC		0.284	RMI1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052870.1	NM_024945		19	28	0	0	0	1	0	19	28					T	86617190	C	T	86617190	3	4	435	1	0	0	0	0	1	0	0	0	13395	507	18	3	1291	3	RMI1	9	86617190	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	98535	86617190	54596241	4320	25245											
SLC28A3	64078	broad.mit.edu	37	chr9	86900404	86900404	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gcaaccataaagctgtcctgCcattccactcccatcatgaa	12	9	5	15	0	1	1	1	1	0	0	4	1	4	1	5	0	3	2	5	0	4	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:86900404C>T	ENST00000376238.4	-	14	1552	c.1503G>A	c.(1501-1503)tgG>tgA	p.W501*	RP11-380F14.2_ENST00000419815.1_RNA|SLC28A3_ENST00000537648.1_Nonsense_Mutation_p.W432*	NM_001199633.1|NM_022127.2	NP_001186562.1|NP_071410.1	Q9HAS3	S28A3_HUMAN	solute carrier family 28 (concentrative nucleoside transporter), member 3	501					pyrimidine nucleoside transport (GO:0015864)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	nucleoside binding (GO:0001882)|purine-specific nucleoside:sodium symporter activity (GO:0015390)|pyrimidine- and adenine-specific:sodium symporter activity (GO:0015389)			endometrium(2)|large_intestine(6)|lung(17)|ovary(1)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31					Adenosine(DB00640)|Cladribine(DB00242)|Fludarabine(DB01073)|Gemcitabine(DB00441)|Mercaptopurine(DB01033)|Ribavirin(DB00811)	AGCTGTCCTGCCATTCCACTC	0.408																																					Ovarian(106;425 1539 34835 42413 43572)	ENST00000376238.4																			0				endometrium(2)|large_intestine(6)|lung(17)|ovary(1)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31						c.(1501-1503)tgG>tgA		solute carrier family 28 (concentrative nucleoside transporter), member 3							96	95	95					9																	86900404		2203	4300	6503	SO:0001587	stop_gained	64078				nucleobase, nucleoside and nucleotide metabolic process	integral to membrane|plasma membrane	nucleoside binding	g.chr9:86900404C>T	AF305210	CCDS6670.1	9q21.33	2013-07-17	2013-07-17		ENSG00000197506	ENSG00000197506		"Solute carriers"	16484	protein-coding gene	gene with protein product		608269	"solute carrier family 28 (sodium-coupled nucleoside transporter), member 3"			11032837	Standard	NM_001199633		Approved	CNT3	uc010mpz.3	Q9HAS3	OTTHUMG00000020117	ENST00000376238.4:c.1503G>A	9.37:g.86900404C>T	ENSP00000365413:p.Trp501*					SLC28A3_ENST00000537648.1_Nonsense_Mutation_p.W432*|RP11-380F14.2_ENST00000419815.1_RNA	p.W501*	NM_001199633.1|NM_022127.2	NP_001186562.1|NP_071410.1	Q9HAS3	S28A3_HUMAN			14	1552	-			501					A8K9Y4|B1AML0|B2RA51|B4E2S8|F5GYE3	Nonsense_Mutation	SNP	ENST00000376238.4	37	c.1503G>A	CCDS6670.1	.	.	.	.	.	.	.	.	.	.	C	37	6.527358	0.97637	.	.	ENSG00000197506	ENST00000376238;ENST00000537648	.	.	.	5.74	5.74	0.90152	.	0.111758	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-8.4931	20.2825	0.98528	0.0:1.0:0.0:0.0	.	.	.	.	X	501;432	.	ENSP00000365413:W501X	W	-	3	0	SLC28A3	86090224	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	2.259000	0.43259	2.873000	0.98535	0.561000	0.74099	TGG		0.408	SLC28A3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052874.1	NM_022127		39	51	0	0	0	1	0	39	51					T	86900404	C	T	86900404	4	4	435	1	0	0	0	0	0	1	0	0	14533	740	26	3	592	3	SLC28A3	9	86900404	Nonsense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	283214	86900404	54313027	4321	25246											
AGTPBP1	23287	broad.mit.edu	37	chr9	88162166	88162166	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aatcaacttcttcaaggaatCgaggttcatcttcatccaag	13	12	6	10	1	6	0	4	0	2	0	8	2	7	1	1	2	1	1	1	2	5	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:88162166C>T	ENST00000357081.3	-	26	3683	c.3539G>A	c.(3538-3540)cGa>cAa	p.R1180Q	AGTPBP1_ENST00000432218.1_Missense_Mutation_p.D629N|AGTPBP1_ENST00000376083.3_Missense_Mutation_p.R1140Q|AGTPBP1_ENST00000376109.3_Missense_Mutation_p.R1192Q|AGTPBP1_ENST00000337006.4_3'UTR			Q9UPW5	CBPC1_HUMAN	ATP/GTP binding protein 1	1180					adult walking behavior (GO:0007628)|C-terminal protein deglutamylation (GO:0035609)|cerebellar Purkinje cell differentiation (GO:0021702)|eye photoreceptor cell differentiation (GO:0001754)|mitochondrion organization (GO:0007005)|neuromuscular process (GO:0050905)|neurotransmitter metabolic process (GO:0042133)|olfactory bulb development (GO:0021772)|protein side chain deglutamylation (GO:0035610)|retina development in camera-type eye (GO:0060041)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	metallocarboxypeptidase activity (GO:0004181)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(12)|ovary(5)|skin(2)|urinary_tract(3)	44						TTCAAGGAATCGAGGTTCATC	0.378																																						ENST00000357081.3																			0				NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(12)|ovary(5)|skin(2)|urinary_tract(3)	44						c.(3538-3540)cGa>cAa		ATP/GTP binding protein 1							129	115	120					9																	88162166		2203	4300	6503	SO:0001583	missense	23287				C-terminal protein deglutamylation|cerebellar Purkinje cell differentiation|eye photoreceptor cell differentiation|mitochondrion organization|neuromuscular process|olfactory bulb development|protein side chain deglutamylation|proteolysis	cytosol|mitochondrion|nucleus	metallocarboxypeptidase activity|tubulin binding|zinc ion binding	g.chr9:88162166C>T	AB028958	CCDS6672.1, CCDS75854.1	9q21.33	2014-06-23			ENSG00000135049	ENSG00000135049			17258	protein-coding gene	gene with protein product	"cytosolic carboxypeptidase 1", "tubulinyl-Tyr carboxypeptidase", "carboxypeptidase-tubulin", "tyrosine carboxypeptidase", "soluble carboxypeptidase"	606830				11083920	Standard	NM_015239		Approved	KIAA1035, Nna1, CCP1	uc010mqc.3	Q9UPW5	OTTHUMG00000020124	ENST00000357081.3:c.3539G>A	9.37:g.88162166C>T	ENSP00000349592:p.Arg1180Gln					AGTPBP1_ENST00000376109.3_Missense_Mutation_p.R1192Q|AGTPBP1_ENST00000376083.3_Missense_Mutation_p.R1140Q|AGTPBP1_ENST00000337006.4_3'UTR|AGTPBP1_ENST00000432218.1_Missense_Mutation_p.D629N	p.R1180Q			Q9UPW5	CBPC1_HUMAN			26	3683	-			1180					B4DIT6|B4DRZ8|Q5VV80|Q63HM7|Q658P5|Q6P9D6|Q9H8U6|Q9H9W8|Q9NVK1	Missense_Mutation	SNP	ENST00000357081.3	37	c.3539G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.09|17.09	3.299153|3.299153	0.60195|0.60195	.|.	.|.	ENSG00000135049|ENSG00000135049	ENST00000432218|ENST00000357081;ENST00000376083;ENST00000376109	T|T;T;T	0.45276|0.19532	0.9|2.17;2.17;2.14	5.89|5.89	4.99|4.99	0.66335|0.66335	.|.	.|0.322527	.|0.32884	.|N	.|0.005531	T|T	0.16471|0.16471	0.0396|0.0396	L|L	0.27053|0.27053	0.805|0.805	0.80722|0.80722	D|D	1|1	B|P;D;D	0.02656|0.57257	0.0|0.512;0.964;0.979	B|B;B;B	0.01281|0.43123	0.0|0.047;0.389;0.409	T|T	0.02909|0.02909	-1.1095|-1.1095	9|10	0.16420|0.20046	T|T	0.52|0.44	-12.1578|-12.1578	15.4491|15.4491	0.75259|0.75259	0.0:0.9326:0.0:0.0674|0.0:0.9326:0.0:0.0674	.|.	629|1192;1180;1140	B4DHX2|Q9UPW5-3;Q9UPW5;Q9UPW5-2	.|.;CBPC1_HUMAN;.	N|Q	629|1180;1140;1192	ENSP00000402804:D629N|ENSP00000349592:R1180Q;ENSP00000365251:R1140Q;ENSP00000365277:R1192Q	ENSP00000402804:D629N|ENSP00000349592:R1180Q	D|R	-|-	1|2	0|0	AGTPBP1|AGTPBP1	87351986|87351986	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	3.264000|3.264000	0.51553|0.51553	2.793000|2.793000	0.96121|0.96121	0.561000|0.561000	0.74099|0.74099	GAT|CGA		0.378	AGTPBP1-004	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000052893.1	NM_015239		5	47	0	0	0	1	0	5	47					T	88162166	C	T	88162166	3	4	435	1	0	0	0	0	1	0	0	0	400	884	31	2	145	2	AGTPBP1	9	88162166	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	1261762	88162166	53051265	4322	25247											
AGTPBP1	23287	broad.mit.edu	37	chr9	88201757	88201757	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gctacttaccaagggtaaacGcttcactgcagccaagtatt	12	10	8	11	1	1	0	1	0	0	0	1	0	1	0	2	1	5	5	2	1	7	6			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:88201757G>A	ENST00000357081.3	-	22	3166	c.3022C>T	c.(3022-3024)Cgt>Tgt	p.R1008C	AGTPBP1_ENST00000432218.1_Intron|AGTPBP1_ENST00000376083.3_Missense_Mutation_p.R968C|AGTPBP1_ENST00000376109.3_Missense_Mutation_p.R1020C|AGTPBP1_ENST00000337006.4_3'UTR			Q9UPW5	CBPC1_HUMAN	ATP/GTP binding protein 1	1008					adult walking behavior (GO:0007628)|C-terminal protein deglutamylation (GO:0035609)|cerebellar Purkinje cell differentiation (GO:0021702)|eye photoreceptor cell differentiation (GO:0001754)|mitochondrion organization (GO:0007005)|neuromuscular process (GO:0050905)|neurotransmitter metabolic process (GO:0042133)|olfactory bulb development (GO:0021772)|protein side chain deglutamylation (GO:0035610)|retina development in camera-type eye (GO:0060041)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	metallocarboxypeptidase activity (GO:0004181)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(12)|ovary(5)|skin(2)|urinary_tract(3)	44						AAGGGTAAACGCTTCACTGCA	0.388																																						ENST00000357081.3																			0				NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(12)|ovary(5)|skin(2)|urinary_tract(3)	44						c.(3022-3024)Cgt>Tgt		ATP/GTP binding protein 1							123	112	116					9																	88201757		2203	4300	6503	SO:0001583	missense	23287				C-terminal protein deglutamylation|cerebellar Purkinje cell differentiation|eye photoreceptor cell differentiation|mitochondrion organization|neuromuscular process|olfactory bulb development|protein side chain deglutamylation|proteolysis	cytosol|mitochondrion|nucleus	metallocarboxypeptidase activity|tubulin binding|zinc ion binding	g.chr9:88201757G>A	AB028958	CCDS6672.1, CCDS75854.1	9q21.33	2014-06-23			ENSG00000135049	ENSG00000135049			17258	protein-coding gene	gene with protein product	"cytosolic carboxypeptidase 1", "tubulinyl-Tyr carboxypeptidase", "carboxypeptidase-tubulin", "tyrosine carboxypeptidase", "soluble carboxypeptidase"	606830				11083920	Standard	NM_015239		Approved	KIAA1035, Nna1, CCP1	uc010mqc.3	Q9UPW5	OTTHUMG00000020124	ENST00000357081.3:c.3022C>T	9.37:g.88201757G>A	ENSP00000349592:p.Arg1008Cys					AGTPBP1_ENST00000376109.3_Missense_Mutation_p.R1020C|AGTPBP1_ENST00000376083.3_Missense_Mutation_p.R968C|AGTPBP1_ENST00000337006.4_3'UTR|AGTPBP1_ENST00000432218.1_Intron	p.R1008C			Q9UPW5	CBPC1_HUMAN			22	3166	-			1008					B4DIT6|B4DRZ8|Q5VV80|Q63HM7|Q658P5|Q6P9D6|Q9H8U6|Q9H9W8|Q9NVK1	Missense_Mutation	SNP	ENST00000357081.3	37	c.3022C>T		.	.	.	.	.	.	.	.	.	.	G	19.39	3.818924	0.71028	.	.	ENSG00000135049	ENST00000357081;ENST00000376083;ENST00000376109	T;T;T	0.11821	2.74;2.74;2.74	5.45	5.45	0.79879	Peptidase M14, carboxypeptidase A (1);	0.104660	0.64402	D	0.000007	T	0.36166	0.0957	L	0.61218	1.895	0.80722	D	1	D;D;D	0.89917	1.0;0.998;0.976	D;P;P	0.67900	0.954;0.906;0.526	T	0.02852	-1.1102	10	0.56958	D	0.05	-4.1142	19.2779	0.94039	0.0:0.0:1.0:0.0	.	1020;1008;968	Q9UPW5-3;Q9UPW5;Q9UPW5-2	.;CBPC1_HUMAN;.	C	1008;968;1020	ENSP00000349592:R1008C;ENSP00000365251:R968C;ENSP00000365277:R1020C	ENSP00000349592:R1008C	R	-	1	0	AGTPBP1	87391577	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.719000	0.61937	2.553000	0.86117	0.655000	0.94253	CGT		0.388	AGTPBP1-004	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000052893.1	NM_015239		4	88	0	0	0	1	0	4	88					A	88201757	G	A	88201757	3	1	435	1	0	0	0	0	1	0	0	0	400	1087	38	1	678	1	AGTPBP1	9	88201757	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	39591	88201757	53011674	4323	25248											
AGTPBP1	23287	broad.mit.edu	37	chr9	88248234	88248234	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taggaacaacaataggaccaCgtacttttccctcaaataca	16	9	5	11	1	1	0	1	0	0	0	2	2	2	2	2	2	4	1	2	2	8	6			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:88248234C>T	ENST00000357081.3	-	14	1502	c.1358G>A	c.(1357-1359)cGt>cAt	p.R453H	AGTPBP1_ENST00000432218.1_Missense_Mutation_p.R291H|AGTPBP1_ENST00000376083.3_Missense_Mutation_p.R413H|AGTPBP1_ENST00000376109.3_Missense_Mutation_p.R465H|AGTPBP1_ENST00000337006.4_3'UTR			Q9UPW5	CBPC1_HUMAN	ATP/GTP binding protein 1	453					adult walking behavior (GO:0007628)|C-terminal protein deglutamylation (GO:0035609)|cerebellar Purkinje cell differentiation (GO:0021702)|eye photoreceptor cell differentiation (GO:0001754)|mitochondrion organization (GO:0007005)|neuromuscular process (GO:0050905)|neurotransmitter metabolic process (GO:0042133)|olfactory bulb development (GO:0021772)|protein side chain deglutamylation (GO:0035610)|retina development in camera-type eye (GO:0060041)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	metallocarboxypeptidase activity (GO:0004181)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(12)|ovary(5)|skin(2)|urinary_tract(3)	44						AATAGGACCACGTACTTTTCC	0.333																																						ENST00000357081.3																			0				NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(12)|ovary(5)|skin(2)|urinary_tract(3)	44						c.(1357-1359)cGt>cAt		ATP/GTP binding protein 1							57	61	60					9																	88248234		2192	4275	6467	SO:0001583	missense	23287				C-terminal protein deglutamylation|cerebellar Purkinje cell differentiation|eye photoreceptor cell differentiation|mitochondrion organization|neuromuscular process|olfactory bulb development|protein side chain deglutamylation|proteolysis	cytosol|mitochondrion|nucleus	metallocarboxypeptidase activity|tubulin binding|zinc ion binding	g.chr9:88248234C>T	AB028958	CCDS6672.1, CCDS75854.1	9q21.33	2014-06-23			ENSG00000135049	ENSG00000135049			17258	protein-coding gene	gene with protein product	"cytosolic carboxypeptidase 1", "tubulinyl-Tyr carboxypeptidase", "carboxypeptidase-tubulin", "tyrosine carboxypeptidase", "soluble carboxypeptidase"	606830				11083920	Standard	NM_015239		Approved	KIAA1035, Nna1, CCP1	uc010mqc.3	Q9UPW5	OTTHUMG00000020124	ENST00000357081.3:c.1358G>A	9.37:g.88248234C>T	ENSP00000349592:p.Arg453His					AGTPBP1_ENST00000376109.3_Missense_Mutation_p.R465H|AGTPBP1_ENST00000376083.3_Missense_Mutation_p.R413H|AGTPBP1_ENST00000337006.4_3'UTR|AGTPBP1_ENST00000432218.1_Missense_Mutation_p.R291H	p.R453H			Q9UPW5	CBPC1_HUMAN			14	1502	-			453					B4DIT6|B4DRZ8|Q5VV80|Q63HM7|Q658P5|Q6P9D6|Q9H8U6|Q9H9W8|Q9NVK1	Missense_Mutation	SNP	ENST00000357081.3	37	c.1358G>A		.	.	.	.	.	.	.	.	.	.	C	12.04	1.819254	0.32145	.	.	ENSG00000135049	ENST00000357081;ENST00000376083;ENST00000376109;ENST00000432218	T;T;T;T	0.44482	2.25;2.26;2.24;0.92	6.07	4.17	0.49024	.	0.516933	0.22063	N	0.065157	T	0.30293	0.0760	N	0.14661	0.345	0.19300	N	0.999977	D;D;B;D	0.61697	0.99;0.958;0.224;0.988	P;B;B;P	0.50617	0.459;0.361;0.018;0.646	T	0.06716	-1.0811	10	0.22706	T	0.39	-0.2971	7.0986	0.25323	0.1359:0.7169:0.0:0.1473	.	465;453;291;413	Q9UPW5-3;Q9UPW5;B4DHX2;Q9UPW5-2	.;CBPC1_HUMAN;.;.	H	453;413;465;291	ENSP00000349592:R453H;ENSP00000365251:R413H;ENSP00000365277:R465H;ENSP00000402804:R291H	ENSP00000349592:R453H	R	-	2	0	AGTPBP1	87438054	0.001000	0.12720	0.002000	0.10522	0.898000	0.52572	1.119000	0.31258	0.835000	0.34877	-0.355000	0.07637	CGT		0.333	AGTPBP1-004	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000052893.1	NM_015239		32	52	0	0	0	1	0	32	52					T	88248234	C	T	88248234	3	4	435	1	0	0	0	0	1	0	0	0	400	536	19	1	2374	1	AGTPBP1	9	88248234	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	46477	88248234	52965197	4324	25249											
AGTPBP1	23287	broad.mit.edu	37	chr9	88284431	88284431	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggaattcttcttactaaatgGtccaatgattttaaacatca	14	15	5	7	0	3	1	1	1	2	0	4	2	4	2	1	2	2	0	1	2	7	6			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:88284431G>A	ENST00000357081.3	-	8	775	c.631C>T	c.(631-633)Cca>Tca	p.P211S	AGTPBP1_ENST00000432218.1_Missense_Mutation_p.P49S|AGTPBP1_ENST00000376083.3_Missense_Mutation_p.P211S|AGTPBP1_ENST00000376081.4_Missense_Mutation_p.P211S|AGTPBP1_ENST00000376080.1_Missense_Mutation_p.P153S|AGTPBP1_ENST00000376109.3_Missense_Mutation_p.P263S|AGTPBP1_ENST00000491784.1_5'UTR|AGTPBP1_ENST00000337006.4_Missense_Mutation_p.P153S			Q9UPW5	CBPC1_HUMAN	ATP/GTP binding protein 1	211					adult walking behavior (GO:0007628)|C-terminal protein deglutamylation (GO:0035609)|cerebellar Purkinje cell differentiation (GO:0021702)|eye photoreceptor cell differentiation (GO:0001754)|mitochondrion organization (GO:0007005)|neuromuscular process (GO:0050905)|neurotransmitter metabolic process (GO:0042133)|olfactory bulb development (GO:0021772)|protein side chain deglutamylation (GO:0035610)|retina development in camera-type eye (GO:0060041)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	metallocarboxypeptidase activity (GO:0004181)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(12)|ovary(5)|skin(2)|urinary_tract(3)	44						TTACTAAATGGTCCAATGATT	0.348																																						ENST00000357081.3																			0				NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(12)|ovary(5)|skin(2)|urinary_tract(3)	44						c.(631-633)Cca>Tca		ATP/GTP binding protein 1							99	92	94					9																	88284431		2203	4299	6502	SO:0001583	missense	23287				C-terminal protein deglutamylation|cerebellar Purkinje cell differentiation|eye photoreceptor cell differentiation|mitochondrion organization|neuromuscular process|olfactory bulb development|protein side chain deglutamylation|proteolysis	cytosol|mitochondrion|nucleus	metallocarboxypeptidase activity|tubulin binding|zinc ion binding	g.chr9:88284431G>A	AB028958	CCDS6672.1, CCDS75854.1	9q21.33	2014-06-23			ENSG00000135049	ENSG00000135049			17258	protein-coding gene	gene with protein product	"cytosolic carboxypeptidase 1", "tubulinyl-Tyr carboxypeptidase", "carboxypeptidase-tubulin", "tyrosine carboxypeptidase", "soluble carboxypeptidase"	606830				11083920	Standard	NM_015239		Approved	KIAA1035, Nna1, CCP1	uc010mqc.3	Q9UPW5	OTTHUMG00000020124	ENST00000357081.3:c.631C>T	9.37:g.88284431G>A	ENSP00000349592:p.Pro211Ser					AGTPBP1_ENST00000376109.3_Missense_Mutation_p.P263S|AGTPBP1_ENST00000376083.3_Missense_Mutation_p.P211S|AGTPBP1_ENST00000337006.4_Missense_Mutation_p.P153S|AGTPBP1_ENST00000491784.1_5'UTR|AGTPBP1_ENST00000432218.1_Missense_Mutation_p.P49S|AGTPBP1_ENST00000376080.1_Missense_Mutation_p.P153S|AGTPBP1_ENST00000376081.4_Missense_Mutation_p.P211S	p.P211S			Q9UPW5	CBPC1_HUMAN			8	775	-			211					B4DIT6|B4DRZ8|Q5VV80|Q63HM7|Q658P5|Q6P9D6|Q9H8U6|Q9H9W8|Q9NVK1	Missense_Mutation	SNP	ENST00000357081.3	37	c.631C>T		.	.	.	.	.	.	.	.	.	.	G	23.7	4.448542	0.84101	.	.	ENSG00000135049	ENST00000337006;ENST00000357081;ENST00000376083;ENST00000376109;ENST00000432218;ENST00000376081;ENST00000376080	T;T;T;T;T;T;T	0.65916	-0.18;-0.18;-0.18;-0.18;-0.18;-0.18;-0.18	5.76	5.76	0.90799	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.78233	0.4251	M	0.64997	1.995	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;0.999;1.0;1.0	T	0.75331	-0.3355	10	0.40728	T	0.16	-14.6491	19.9813	0.97326	0.0:0.0:1.0:0.0	.	263;211;49;211	Q9UPW5-3;Q9UPW5;B4DHX2;Q9UPW5-2	.;CBPC1_HUMAN;.;.	S	153;211;211;263;49;211;153	ENSP00000338512:P153S;ENSP00000349592:P211S;ENSP00000365251:P211S;ENSP00000365277:P263S;ENSP00000402804:P49S;ENSP00000365249:P211S;ENSP00000365248:P153S	ENSP00000338512:P153S	P	-	1	0	AGTPBP1	87474251	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.071000	0.93980	2.726000	0.93360	0.655000	0.94253	CCA		0.348	AGTPBP1-004	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000052893.1	NM_015239		8	58	0	0	0	1	0	8	58					A	88284431	G	A	88284431	3	1	435	1	0	0	0	0	1	0	0	0	400	1261	44	3	3005	3	AGTPBP1	9	88284431	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	36197	88284431	52929000	4325	25250											
GOLM1	51280	broad.mit.edu	37	chr9	88650460	88650460	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	acctacaggtctgtcttccaCcacctgctcccggcctggct	5	10	8	18	1	2	0	0	0	2	0	4	0	4	0	6	3	2	2	6	3	1	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:88650460C>T	ENST00000388712.3	-	8	1006	c.838G>A	c.(838-840)Gtg>Atg	p.V280M	GOLM1_ENST00000257504.6_5'Flank|GOLM1_ENST00000388711.3_Missense_Mutation_p.V280M	NM_016548.3	NP_057632.2	Q8NBJ4	GOLM1_HUMAN	golgi membrane protein 1	280					nucleus organization (GO:0006997)|regulation of lipid metabolic process (GO:0019216)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)				breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	17						CTGTCTTCCACCACCTGCTCC	0.607											OREG0019278	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000388712.3																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	17						c.(838-840)Gtg>Atg		golgi membrane protein 1							149	163	158					9																	88650460		2203	4300	6503	SO:0001583	missense	51280					Golgi apparatus|integral to plasma membrane		g.chr9:88650460C>T	AF236056	CCDS35054.1	9q21.33	2012-12-13	2007-07-30	2007-07-30	ENSG00000135052	ENSG00000135052			15451	protein-coding gene	gene with protein product		606804	"golgi phosphoprotein 2", "chromosome 9 open reading frame 155"	GOLPH2, C9orf155		10831838, 18953438, 22542941	Standard	NM_016548		Approved	GP73, FLJ23608, bA379P1.3	uc004aol.3	Q8NBJ4	OTTHUMG00000020130	ENST00000388712.3:c.838G>A	9.37:g.88650460C>T	ENSP00000373364:p.Val280Met		OREG0019278	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1261	GOLM1_ENST00000388711.3_Missense_Mutation_p.V280M	p.V280M	NM_016548.3	NP_057632.2	Q8NBJ4	GOLM1_HUMAN			8	1006	-			280					Q6IAF4|Q9NRB9	Missense_Mutation	SNP	ENST00000388712.3	37	c.838G>A	CCDS35054.1	.	.	.	.	.	.	.	.	.	.	C	10.43	1.348363	0.24426	.	.	ENSG00000135052	ENST00000388712;ENST00000388711	T;T	0.44881	0.91;0.91	4.54	2.63	0.31362	.	2.476840	0.01390	N	0.013219	T	0.41789	0.1174	L	0.44542	1.39	0.09310	N	1	B	0.21753	0.06	B	0.32465	0.146	T	0.34030	-0.9845	10	0.48119	T	0.1	-3.2651	5.5635	0.17157	0.0:0.6877:0.2045:0.1077	.	280	Q8NBJ4	GOLM1_HUMAN	M	280	ENSP00000373364:V280M;ENSP00000373363:V280M	ENSP00000373363:V280M	V	-	1	0	GOLM1	87840280	0.000000	0.05858	0.001000	0.08648	0.058000	0.15608	-0.070000	0.11523	1.226000	0.43582	0.462000	0.41574	GTG		0.607	GOLM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052904.2	NM_177937		54	87	0	0	0	1	0	54	87					T	88650460	C	T	88650460	3	4	435	1	0	0	0	0	1	0	0	0	6567	507	18	3	379	3	GOLM1	9	88650460	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	366029	88650460	52562971	4326	25251											
ZCCHC6	79670	broad.mit.edu	37	chr9	88924393	88924393	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatacctcttgaaggacaggAatgactggtggattcctctg	11	11	11	8	0	2	2	0	2	2	0	3	5	3	5	2	4	1	0	2	4	4	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:88924393A>G	ENST00000375963.3	-	20	3739	c.3567T>C	c.(3565-3567)atT>atC	p.I1189I	ZCCHC6_ENST00000375961.2_Intron|ZCCHC6_ENST00000375960.2_Silent_p.I953I|ZCCHC6_ENST00000277141.6_Silent_p.I478I|ZCCHC6_ENST00000375957.1_Intron	NM_001185059.1|NM_024617.3	NP_001171988.1|NP_078893.2	Q5VYS8	TUT7_HUMAN	zinc finger, CCHC domain containing 6	1189					RNA 3'-end processing (GO:0031123)		poly(A) RNA binding (GO:0044822)|RNA uridylyltransferase activity (GO:0050265)|zinc ion binding (GO:0008270)			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	46						GAAGGACAGGAATGACTGGTG	0.398																																						ENST00000277141.6																			0				breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	46						c.(1432-1434)atT>atC		zinc finger, CCHC domain containing 6							83	85	84					9																	88924393		2203	4300	6503	SO:0001819	synonymous_variant	79670				RNA 3'-end processing		nucleic acid binding|RNA uridylyltransferase activity|zinc ion binding	g.chr9:88924393A>G	AL832026	CCDS35057.1, CCDS55323.1	9q21	2014-03-05			ENSG00000083223	ENSG00000083223		"Zinc fingers, CCHC domain containing"	25817	protein-coding gene	gene with protein product	"TUTase7"					11214970	Standard	NM_001185059		Approved	KIAA1711, FLJ13409, PAPD6, TUT7	uc004aoq.3	Q5VYS8	OTTHUMG00000020137	ENST00000375963.3:c.3567T>C	9.37:g.88924393A>G						ZCCHC6_ENST00000375961.2_Intron|ZCCHC6_ENST00000375960.2_Silent_p.I953I|ZCCHC6_ENST00000375963.3_Silent_p.I1189I|ZCCHC6_ENST00000375957.1_Intron	p.I478I			Q5VYS8	TUT7_HUMAN			21	3858	-			1189					Q5H9T0|Q5VYS5|Q5VYS7|Q658Z9|Q659A2|Q6MZJ3|Q8N5F0|Q96N57|Q96NE8|Q9C0F2|Q9H8M6	Silent	SNP	ENST00000375963.3	37	c.1434T>C	CCDS35057.1																																																																																				0.398	ZCCHC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052918.1	NM_024617		25	40	0	0	0	1	0	25	40					G	88924393	A	G	88924393	2	3	435	1	0	0	0	0	0	0	0	1	17589	242	9	4		4	ZCCHC6	9	88924393	Silent	SNP	A	TCGA-XK-AAIW-01A-11D-A41K-08	273933	88924393	52289038	4327	25252											
DAPK1	1612	broad.mit.edu	37	chr9	90321624	90321624	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caagtgctgcctgctgctggActcggtgtgcagcaccattg	6	10	13	12	1	0	0	0	0	0	0	1	1	0	1	2	2	6	5	2	2	1	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:90321624A>G	ENST00000408954.3	+	26	3973	c.3638A>G	c.(3637-3639)gAc>gGc	p.D1213G	DAPK1_ENST00000469640.2_Missense_Mutation_p.D1238G|DAPK1_ENST00000358077.5_Missense_Mutation_p.D1213G|DAPK1_ENST00000472284.1_Missense_Mutation_p.D1213G|DAPK1_ENST00000491893.1_Missense_Mutation_p.D1147G	NM_004938.2	NP_004929.2	P53355	DAPK1_HUMAN	death-associated protein kinase 1	1213					apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cellular response to interferon-gamma (GO:0071346)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|intracellular signal transduction (GO:0035556)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of translation (GO:0017148)|positive regulation of apoptotic process (GO:0043065)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of apoptotic process (GO:0042981)|regulation of autophagy (GO:0010506)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|calmodulin-dependent protein kinase activity (GO:0004683)|identical protein binding (GO:0042802)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(27)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(3)|stomach(1)	72						CTGCTGCTGGACTCGGTGTGC	0.647									Chronic Lymphocytic Leukemia, Familial Clustering of																													ENST00000469640.2																			0				breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(27)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(3)|stomach(1)	72						c.(3712-3714)gAc>gGc		death-associated protein kinase 1							35	40	39					9																	90321624		2178	4283	6461	SO:0001583	missense	1612	Chronic Lymphocytic Leukemia, Familial Clustering of	Familial Cancer Database	Familial CLL	apoptosis|induction of apoptosis by extracellular signals|intracellular protein kinase cascade	actin cytoskeleton|cytoplasm	ATP binding|calmodulin binding|protein serine/threonine kinase activity	g.chr9:90321624A>G	X76104	CCDS43842.1	9q34.1	2013-01-10			ENSG00000196730	ENSG00000196730		"Ankyrin repeat domain containing"	2674	protein-coding gene	gene with protein product		600831				8530096	Standard	XM_005251757		Approved	DAPK	uc004apd.3	P53355	OTTHUMG00000020150	ENST00000408954.3:c.3638A>G	9.37:g.90321624A>G	ENSP00000386135:p.Asp1213Gly					DAPK1_ENST00000358077.5_Missense_Mutation_p.D1213G|DAPK1_ENST00000472284.1_Missense_Mutation_p.D1213G|DAPK1_ENST00000491893.1_Missense_Mutation_p.D1147G|DAPK1_ENST00000408954.3_Missense_Mutation_p.D1213G	p.D1238G			P53355	DAPK1_HUMAN			27	4088	+			1213					B7ZLD2|B7ZLE7|Q14CQ7|Q1W5W0|Q68CP8|Q6ZRZ3|Q9BTL8	Missense_Mutation	SNP	ENST00000408954.3	37	c.3713A>G	CCDS43842.1	.	.	.	.	.	.	.	.	.	.	A	17.26	3.345055	0.61073	.	.	ENSG00000196730	ENST00000358077;ENST00000472284;ENST00000469640;ENST00000408954;ENST00000491893	T;T;T;T;T	0.69306	-0.35;-0.35;-0.38;-0.35;-0.39	5.12	5.12	0.69794	.	0.106074	0.39475	N	0.001356	T	0.70736	0.3258	L	0.54323	1.7	0.80722	D	1	P;P;P	0.46395	0.598;0.877;0.455	B;P;B	0.49829	0.243;0.623;0.243	T	0.74774	-0.3551	10	0.72032	D	0.01	.	15.086	0.72155	1.0:0.0:0.0:0.0	.	1147;1213;1213	B7ZLE7;P53355-3;P53355	.;.;DAPK1_HUMAN	G	1213;1213;1238;1213;1147	ENSP00000350785:D1213G;ENSP00000417076:D1213G;ENSP00000418885:D1238G;ENSP00000386135:D1213G;ENSP00000419026:D1147G	ENSP00000350785:D1213G	D	+	2	0	DAPK1	89511444	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.139000	0.94554	2.148000	0.66965	0.533000	0.62120	GAC		0.647	DAPK1-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356843.1	NM_004938		7	9	0	0	0	1	0	7	9					G	90321624	A	G	90321624	3	3	435	1	0	0	0	0	1	0	0	0	4235	275	10	4	3736	4	DAPK1	9	90321624	Missense_Mutation	SNP	A	TCGA-XK-AAIW-01A-11D-A41K-08	1397231	90321624	50891807	4328	25253											
CTSL1	1514	broad.mit.edu	37	chr9	90345356	90345356	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tcatggtgtgctggtggttgGctacggatttgaaagcacag	8	12	15	6	1	1	1	1	1	0	0	1	2	1	2	0	5	3	4	0	5	2	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:90345356G>A	ENST00000343150.5	+	7	1735	c.845G>A	c.(844-846)gGc>gAc	p.G282D	CTSL_ENST00000495822.1_3'UTR|CTSL_ENST00000340342.6_Missense_Mutation_p.G282D			P07711	CATL1_HUMAN	cathepsin L	282					adaptive immune response (GO:0002250)|antigen processing and presentation (GO:0019882)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cellular response to thyroid hormone stimulus (GO:0097067)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|innate immune response (GO:0045087)|macrophage apoptotic process (GO:0071888)|proteolysis (GO:0006508)|proteolysis involved in cellular protein catabolic process (GO:0051603)|toll-like receptor signaling pathway (GO:0002224)	endolysosome lumen (GO:0036021)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)|nucleus (GO:0005634)	collagen binding (GO:0005518)|cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)|fibronectin binding (GO:0001968)|histone binding (GO:0042393)|proteoglycan binding (GO:0043394)										CTGGTGGTTGGCTACGGATTT	0.413																																						ENST00000343150.5																			0											c.(844-846)gGc>gAc		cathepsin L							123	114	117					9																	90345356		2203	4300	6503	SO:0001583	missense	1514							g.chr9:90345356G>A	X12451	CCDS6675.1	9q21.33	2013-06-27	2013-06-27	2013-06-27	ENSG00000135047	ENSG00000135047	3.4.22.15	"Cathepsins"	2537	protein-coding gene	gene with protein product		116880	"cathepsin L1"	CTSL1		8419312, 2835398	Standard	NM_145918		Approved	FLJ31037	uc004apk.4	P07711	OTTHUMG00000020149	ENST00000343150.5:c.845G>A	9.37:g.90345356G>A	ENSP00000345344:p.Gly282Asp					CTSL_ENST00000340342.6_Missense_Mutation_p.G282D|CTSL_ENST00000495822.1_3'UTR	p.G282D							7	1735	+								Q6IAV1|Q96QJ0	Missense_Mutation	SNP	ENST00000343150.5	37	c.845G>A	CCDS6675.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.047985	0.75846	.	.	ENSG00000135047	ENST00000343150;ENST00000340342	D;D	0.82893	-1.66;-1.66	4.42	4.42	0.53409	Peptidase C1A, papain C-terminal (3);	0.000000	0.85682	D	0.000000	D	0.95796	0.8632	H	0.99914	4.94	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	D	0.98452	1.0592	10	0.87932	D	0	.	17.2099	0.86928	0.0:0.0:1.0:0.0	.	282	P07711	CATL1_HUMAN	D	282	ENSP00000345344:G282D;ENSP00000365061:G282D	ENSP00000365061:G282D	G	+	2	0	CTSL1	89535176	1.000000	0.71417	1.000000	0.80357	0.583000	0.36354	8.626000	0.90969	2.279000	0.76181	0.591000	0.81541	GGC		0.413	CTSL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052936.1	NM_001912		19	34	0	0	0	1	0	19	34					A	90345356	G	A	90345356	3	1	435	1	0	0	0	0	1	0	0	0	4038	1203	42	3	867	3	CTSL1	9	90345356	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	23732	90345356	50868075	4329	25254											
C9orf79	286234	broad.mit.edu	37	chr9	90500610	90500610	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggagtgggacatcacgacccTaaatcccttctggaacgtgt	10	9	11	11	2	2	0	1	0	1	0	3	4	3	3	2	3	1	0	2	3	3	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:90500610T>C	ENST00000325643.5	+	4	1274	c.1208T>C	c.(1207-1209)cTa>cCa	p.L403P		NM_178828.4	NP_849150.3	Q6ZUB1	S31E1_HUMAN	SPATA31 subfamily E, member 1	403					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											ATCACGACCCTAAATCCCTTC	0.562																																						ENST00000325643.5																			0											c.(1207-1209)cTa>cCa		SPATA31 subfamily E, member 1							89	69	76					9																	90500610		2203	4299	6502	SO:0001583	missense	286234							g.chr9:90500610T>C	AK093185	CCDS6676.1	9q22.1-q22.2	2012-10-12	2012-10-12	2012-10-12	ENSG00000177992	ENSG00000177992			26672	protein-coding gene	gene with protein product			"chromosome 9 open reading frame 79", "family with sequence similarity 75, member E1"	C9orf79, FAM75E1			Standard	NM_178828		Approved	FLJ35866	uc004app.4	Q6ZUB1	OTTHUMG00000020157	ENST00000325643.5:c.1208T>C	9.37:g.90500610T>C	ENSP00000322640:p.Leu403Pro						p.L403P	NM_178828.4	NP_849150.3					4	1274	+								B2RPB1|Q5SQC9|Q8NA41|Q8ND27	Missense_Mutation	SNP	ENST00000325643.5	37	c.1208T>C	CCDS6676.1	.	.	.	.	.	.	.	.	.	.	t	5.245	0.230708	0.09969	.	.	ENSG00000177992	ENST00000325643;ENST00000539327	T	0.03065	4.06	2.67	1.67	0.24075	.	1.500240	0.04258	N	0.339876	T	0.02418	0.0074	N	0.16233	0.39	0.09310	N	0.999999	B;B	0.14012	0.009;0.006	B;B	0.08055	0.003;0.002	T	0.40478	-0.9561	10	0.02654	T	1	.	5.5704	0.17194	0.0:0.838:0.0:0.162	.	403;55	Q6ZUB1;Q8NA33	CI079_HUMAN;.	P	403;55	ENSP00000322640:L403P	ENSP00000322640:L403P	L	+	2	0	C9orf79	89690430	0.000000	0.05858	0.001000	0.08648	0.000000	0.00434	-0.245000	0.08890	0.684000	0.31448	-0.188000	0.12872	CTA		0.562	SPATA31E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052954.2	NM_178828		15	31	0	0	0	1	0	15	31					C	90500610	T	C	90500610	3	2	435	1	0	0	0	0	1	0	0	0	2497	1522	53	4	1222	4	C9orf79	9	90500610	Missense_Mutation	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	155254	90500610	50712821	4330	25255											
SPIN1	10927	broad.mit.edu	37	chr9	91063856	91063856	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tatactcatctctcttacagGccatgctggagtatctgcca	9	13	7	12	0	4	0	1	0	3	0	5	1	4	1	2	2	4	2	2	2	4	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:91063856G>A	ENST00000375859.3	+	3	331	c.53G>A	c.(52-54)gGc>gAc	p.G18D	SPIN1_ENST00000469017.2_3'UTR|SPIN1_ENST00000541629.1_Splice_Site_p.G18D	NM_006717.2	NP_006708.2	Q9Y657	SPIN1_HUMAN	spindlin 1	18					chromatin modification (GO:0016568)|gamete generation (GO:0007276)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|positive regulation of Wnt signaling pathway (GO:0030177)|rRNA transcription (GO:0009303)|Wnt signaling pathway (GO:0016055)	nucleolus (GO:0005730)|nucleus (GO:0005634)|spindle (GO:0005819)	methylated histone binding (GO:0035064)			endometrium(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	4						TCTCTTACAGGCCATGCTGGA	0.378																																						ENST00000375859.3																			0				endometrium(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	4						c.e3-1		spindlin 1							149	143	145					9																	91063856		1907	4125	6032	SO:0001630	splice_region_variant	10927				cell cycle|gamete generation|multicellular organismal development	nucleus	methylated histone residue binding	g.chr9:91063856G>A	AF317228	CCDS43843.1	9q22.1	2008-02-05	2007-01-03	2007-01-03	ENSG00000106723	ENSG00000106723			11243	protein-coding gene	gene with protein product		609936	"spindlin"	SPIN		16098913	Standard	NM_006717		Approved		uc004apy.3	Q9Y657	OTTHUMG00000020168	ENST00000375859.3:c.53-1G>A	9.37:g.91063856G>A						SPIN1_ENST00000469017.2_3'UTR|SPIN1_ENST00000541629.1_Splice_Site_p.G18_splice	p.G18_splice	NM_006717.2	NP_006708.2	Q9Y657	SPIN1_HUMAN			3	331	+			18					A8K0X6|B3KRQ4|Q7KZJ8|Q9GZT2|Q9H0N7	Splice_Site	SNP	ENST00000375859.3	37	c.52_splice	CCDS43843.1	.	.	.	.	.	.	.	.	.	.	G	8.113	0.779250	0.16120	.	.	ENSG00000106723	ENST00000375859;ENST00000541629	T;T	0.44083	0.93;0.93	4.58	3.68	0.42216	.	0.437321	0.18478	N	0.140018	T	0.38374	0.1038	L	0.58101	1.795	0.80722	D	1	P	0.39060	0.657	B	0.37650	0.255	T	0.22103	-1.0226	9	.	.	.	.	10.9451	0.47296	0.0:0.1884:0.8116:0.0	.	18	Q9Y657	SPIN1_HUMAN	D	18	ENSP00000365019:G18D;ENSP00000441864:G18D	.	G	+	2	0	SPIN1	90253676	1.000000	0.71417	1.000000	0.80357	0.403000	0.30841	5.172000	0.65003	1.523000	0.49018	-0.165000	0.13383	GGC		0.378	SPIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052967.1	NM_006717	Missense_Mutation	24	32	0	0	0	1	0	24	32					A	91063856	G	A	91063856	5	1	435	1	0	0	0	0	0	0	1	0	15051	1217	42	3	59	3	SPIN1	9	91063856	Splice_Site	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	563246	91063856	50149575	4331	25256											
C9orf47	286223	broad.mit.edu	37	chr9	91606884	91606884	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cgtggagaagttccatcagtCgttttccttggacaattaac	10	13	9	9	2	1	1	1	0	0	1	4	3	3	2	2	2	1	2	2	2	3	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:91606884C>T	ENST00000334490.5	+	3	658	c.590C>T	c.(589-591)tCg>tTg	p.S197L	C9orf47_ENST00000375851.2_Missense_Mutation_p.S178L|C9orf47_ENST00000375850.3_Missense_Mutation_p.S230L|S1PR3_ENST00000358157.2_Intron			Q6ZRZ4	CI047_HUMAN	chromosome 9 open reading frame 47	197						extracellular region (GO:0005576)				endometrium(1)|large_intestine(1)|liver(1)|lung(1)	4						TTCCATCAGTCGTTTTCCTTG	0.542																																						ENST00000375851.2																			0				endometrium(1)|large_intestine(1)|liver(1)|lung(1)	4						c.(532-534)tCg>tTg		chromosome 9 open reading frame 47							106	98	101					9																	91606884		2203	4300	6503	SO:0001583	missense	286223					extracellular region		g.chr9:91606884C>T	AK094842	CCDS35062.1, CCDS47989.1	9q22.1	2008-02-05	2004-11-04		ENSG00000186354	ENSG00000186354			23669	protein-coding gene	gene with protein product			"chromosome 9 open reading frame 108"	C9orf108			Standard	NM_001001938		Approved	FLJ37523, bA791O21.3	uc004aqc.2	Q6ZRZ4	OTTHUMG00000020172	ENST00000334490.5:c.590C>T	9.37:g.91606884C>T	ENSP00000335616:p.Ser197Leu					C9orf47_ENST00000375850.3_Missense_Mutation_p.S230L|C9orf47_ENST00000334490.5_Missense_Mutation_p.S197L|S1PR3_ENST00000358157.2_Intron	p.S178L	NM_001001938.3|NM_001142413.1	NP_001001938.1|NP_001135885.1	Q6ZRZ4	CI047_HUMAN			3	666	+			197					B7ZMC7|Q5SQD7|Q7Z568|Q8N1V4	Missense_Mutation	SNP	ENST00000334490.5	37	c.533C>T	CCDS35062.1	.	.	.	.	.	.	.	.	.	.	C	10.85	1.467724	0.26335	.	.	ENSG00000186354	ENST00000375851;ENST00000375850;ENST00000334490	.	.	.	2.33	-3.44	0.04796	.	.	.	.	.	T	0.13543	0.0328	N	0.08118	0	0.09310	N	1	B;B	0.26708	0.157;0.157	B;B	0.16722	0.016;0.016	T	0.14980	-1.0453	8	0.87932	D	0	.	0.5646	0.00685	0.1785:0.261:0.1766:0.3839	.	197;178	Q6ZRZ4;Q6ZRZ4-2	CI047_HUMAN;.	L	178;230;197	.	ENSP00000335616:S197L	S	+	2	0	C9orf47	90796704	0.000000	0.05858	0.000000	0.03702	0.021000	0.10359	-0.548000	0.06048	-1.071000	0.03145	-0.258000	0.10820	TCG		0.542	C9orf47-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000355972.1	NM_182599		16	31	0	0	0	1	0	16	31					T	91606884	C	T	91606884	3	4	435	1	0	0	0	0	1	0	0	0	2485	893	31	2	600	2	C9orf47	9	91606884	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	543028	91606884	49606547	4332	25257											
SECISBP2	79048	broad.mit.edu	37	chr9	91940523	91940523	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aacccagttgttaccgaggtTttcaaacagtgaagcatcga	13	10	9	9	2	1	1	1	1	0	0	2	3	1	1	2	1	4	4	2	1	4	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:91940523T>G	ENST00000375807.3	+	3	435	c.364T>G	c.(364-366)Ttt>Gtt	p.F122V	SECISBP2_ENST00000339901.4_Missense_Mutation_p.F49V|SECISBP2_ENST00000470305.1_3'UTR|SECISBP2_ENST00000534113.2_Missense_Mutation_p.F54V	NM_001282688.1|NM_001282690.1|NM_024077.3	NP_001269617.1|NP_001269619.1|NP_076982.3	Q96T21	SEBP2_HUMAN	SECIS binding protein 2	122					translation (GO:0006412)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	mRNA 3'-UTR binding (GO:0003730)|poly(A) RNA binding (GO:0044822)|ribonucleoprotein complex binding (GO:0043021)|selenocysteine insertion sequence binding (GO:0035368)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(3)|skin(2)	32						TTACCGAGGTTTTCAAACAGT	0.423																																						ENST00000375807.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(3)|skin(2)	32						c.(364-366)Ttt>Gtt		SECIS binding protein 2							191	176	182					9																	91940523		2203	4300	6503	SO:0001583	missense	79048				translation	nucleus	mRNA 3'-UTR binding	g.chr9:91940523T>G	AF380995	CCDS6683.1, CCDS65076.1, CCDS65077.1	9q22	2008-02-05			ENSG00000187742	ENSG00000187742			30972	protein-coding gene	gene with protein product		607693				11230166	Standard	XM_005252193		Approved		uc004aqj.1	Q96T21	OTTHUMG00000020182	ENST00000375807.3:c.364T>G	9.37:g.91940523T>G	ENSP00000364965:p.Phe122Val					SECISBP2_ENST00000534113.2_Missense_Mutation_p.F54V|SECISBP2_ENST00000339901.4_Missense_Mutation_p.F49V|SECISBP2_ENST00000470305.1_3'UTR	p.F122V	NM_024077.3	NP_076982.3	Q96T21	SEBP2_HUMAN			3	435	+			122					F8W892|Q5HYY1|Q8IYC0|Q9H0A1	Missense_Mutation	SNP	ENST00000375807.3	37	c.364T>G	CCDS6683.1	.	.	.	.	.	.	.	.	.	.	T	0.014	-1.577704	0.00879	.	.	ENSG00000187742	ENST00000375807;ENST00000395669;ENST00000339901;ENST00000534113	T;T;T	0.71698	-0.57;-0.59;-0.58	4.17	2.93	0.34026	.	0.386473	0.22908	N	0.054167	T	0.47229	0.1434	N	0.19112	0.55	0.09310	N	1	B;B;B;B;B	0.20052	0.005;0.024;0.041;0.024;0.041	B;B;B;B;B	0.16722	0.005;0.007;0.016;0.005;0.016	T	0.29610	-1.0006	10	0.02654	T	1	-5.0995	9.1614	0.37025	0.0:0.0:0.1821:0.8179	.	142;122;49;122;54	Q59H19;B4DZC7;Q96T21-2;Q96T21;F8W892	.;.;.;SEBP2_HUMAN;.	V	122;142;49;54	ENSP00000364965:F122V;ENSP00000364959:F49V;ENSP00000436650:F54V	ENSP00000364959:F49V	F	+	1	0	SECISBP2	91130343	0.016000	0.18221	0.013000	0.15412	0.072000	0.16883	1.380000	0.34351	1.879000	0.54435	0.379000	0.24179	TTT		0.423	SECISBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052990.3	NM_024077		58	105	0	0	0	1	0	58	105					G	91940523	T	G	91940523	3	3	435	1	0	0	0	0	1	0	0	0	14006	1841	64	5	374	5	SECISBP2	9	91940523	Missense_Mutation	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	333639	91940523	49272908	4333	25258											
ROR2	4920	broad.mit.edu	37	chr9	94486292	94486292	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcaggtaggccccataggcCggcaccggctggtagccgtt	6	6	16	13	3	0	0	0	0	0	0	0	0	0	0	5	7	1	6	5	7	3	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:94486292C>T	ENST00000375708.3	-	9	2682	c.2484G>A	c.(2482-2484)ccG>ccA	p.P828P	ROR2_ENST00000550066.1_5'UTR|ROR2_ENST00000375715.1_Intron	NM_004560.3	NP_004551.2	Q01974	ROR2_HUMAN	receptor tyrosine kinase-like orphan receptor 2	828	Pro-rich.				cartilage condensation (GO:0001502)|cell differentiation (GO:0030154)|embryonic genitalia morphogenesis (GO:0030538)|inner ear morphogenesis (GO:0042472)|JNK cascade (GO:0007254)|multicellular organismal development (GO:0007275)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell migration (GO:0030335)|positive regulation of transcription, DNA-templated (GO:0045893)|signal transduction (GO:0007165)|somitogenesis (GO:0001756)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|Wnt signaling pathway, calcium modulating pathway (GO:0007223)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	clathrin-coated endocytic vesicle membrane (GO:0030669)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|Wnt-protein binding (GO:0017147)			autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						CCCCATAGGCCGGCACCGGCT	0.657																																						ENST00000375708.3																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						c.(2482-2484)ccG>ccA		receptor tyrosine kinase-like orphan receptor 2							47	57	54					9																	94486292		2203	4300	6503	SO:0001819	synonymous_variant	4920				negative regulation of cell proliferation|positive regulation of cell migration|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding	g.chr9:94486292C>T	M97639	CCDS6691.1	9q22	2013-01-11			ENSG00000169071	ENSG00000169071		"Immunoglobulin superfamily / I-set domain containing"	10257	protein-coding gene	gene with protein product		602337		NTRKR2, BDB, BDB1		1334494, 10700182	Standard	NM_004560		Approved		uc004arj.2	Q01974	OTTHUMG00000020211	ENST00000375708.3:c.2484G>A	9.37:g.94486292C>T						ROR2_ENST00000375715.1_Intron|ROR2_ENST00000550066.1_5'UTR	p.P828P	NM_004560.3	NP_004551.2	Q01974	ROR2_HUMAN			9	2682	-			828			Pro-rich.		Q59GF5|Q5SPI5|Q9HAY7|Q9HB61	Silent	SNP	ENST00000375708.3	37	c.2484G>A	CCDS6691.1																																																																																				0.657	ROR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053040.1			11	22	0	0	0	1	0	11	22					T	94486292	C	T	94486292	2	4	435	1	0	0	0	0	0	0	0	1	13527	639	23	2		2	ROR2	9	94486292	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	2545769	94486292	46727139	4334	25259											
IARS	3376	broad.mit.edu	37	chr9	95019010	95019010	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gagagactgcatgaaggacaGgatccaccggtctgtaatgt	12	8	13	8	1	1	2	0	1	1	1	2	6	2	4	2	3	1	2	2	3	2	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:95019010G>T	ENST00000375643.3	-	20	2355	c.2089C>A	c.(2089-2091)Ctg>Atg	p.L697M	IARS_ENST00000443024.2_Missense_Mutation_p.L697M|IARS_ENST00000375629.3_De_novo_Start_InFrame|IARS_ENST00000447699.2_Missense_Mutation_p.L587M	NM_013417.2	NP_038203.2	P41252	SYIC_HUMAN	isoleucyl-tRNA synthetase	697					gene expression (GO:0010467)|isoleucyl-tRNA aminoacylation (GO:0006428)|osteoblast differentiation (GO:0001649)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|isoleucine-tRNA ligase activity (GO:0004822)			breast(3)|endometrium(2)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	35					L-Isoleucine(DB00167)	ATGAAGGACAGGATCCACCGG	0.433																																						ENST00000375643.3																			0				breast(3)|endometrium(2)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	35						c.(2089-2091)Ctg>Atg		isoleucyl-tRNA synthetase	L-Isoleucine(DB00167)						138	130	133					9																	95019010		2203	4300	6503	SO:0001583	missense	3376				isoleucyl-tRNA aminoacylation	cytosol|nucleus|soluble fraction	ATP binding|isoleucine-tRNA ligase activity|protein binding	g.chr9:95019010G>T	AB209234	CCDS6694.1	9q21	2011-07-01	2007-02-26		ENSG00000196305	ENSG00000196305	6.1.1.5	"Aminoacyl tRNA synthetases / Class I"	5330	protein-coding gene	gene with protein product	"isoleucine tRNA ligase 1, cytoplasmic"	600709				8812440	Standard	NM_002161		Approved	ILRS, IARS1	uc004aru.4	P41252	OTTHUMG00000020219	ENST00000375643.3:c.2089C>A	9.37:g.95019010G>T	ENSP00000364794:p.Leu697Met					IARS_ENST00000447699.2_Missense_Mutation_p.L587M|IARS_ENST00000443024.2_Missense_Mutation_p.L697M|IARS_ENST00000375629.3_De_novo_Start_InFrame	p.L697M	NM_013417.2	NP_038203.2	P41252	SYIC_HUMAN			20	2355	-			697					A8KAE9|Q5TCD0|Q7Z3T4|Q9H588	Missense_Mutation	SNP	ENST00000375643.3	37	c.2089C>A	CCDS6694.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.982508	0.74474	.	.	ENSG00000196305	ENST00000375643;ENST00000443024;ENST00000447699;ENST00000375660	T;T;T	0.25912	1.77;1.77;1.77	5.7	4.8	0.61643	Valyl/Leucyl/Isoleucyl-tRNA synthetase, class I, anticodon-binding (1);Aminoacyl-tRNA synthetase, class 1a, anticodon-binding (1);	0.133774	0.52532	D	0.000069	T	0.44953	0.1318	M	0.86573	2.825	0.80722	D	1	P;P	0.37731	0.607;0.571	P;B	0.49421	0.61;0.403	T	0.47156	-0.9139	10	0.59425	D	0.04	-9.6677	8.7915	0.34854	0.0758:0.0:0.7735:0.1506	.	697;542	P41252;Q6P0M4	SYIC_HUMAN;.	M	697;697;587;697	ENSP00000364794:L697M;ENSP00000406448:L697M;ENSP00000415020:L587M	ENSP00000364794:L697M	L	-	1	2	IARS	94058831	1.000000	0.71417	1.000000	0.80357	0.913000	0.54294	4.286000	0.58995	2.680000	0.91292	0.561000	0.74099	CTG		0.433	IARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053059.2	NM_002161		22	29	1	0	5.35356e-11	1	5.74024e-11	22	29					T	95019010	G	T	95019010	3	4	435	1	0	0	0	0	1	0	0	0	7473	991	35	5	1759	5	IARS	9	95019010	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	532718	95019010	46194421	4335	25260											
CENPP	401541	broad.mit.edu	37	chr9	95142122	95142122	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtggtttgaatatcgtaagcGcacgtttaaacatctcaagg	12	12	10	7	3	1	1	1	1	1	0	3	1	1	1	0	2	2	4	0	2	6	5	rs112987350	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:95142122G>A	ENST00000375587.3	+	5	1060	c.545G>A	c.(544-546)cGc>cAc	p.R182H		NM_001012267.1	NP_001012267.1	Q6IPU0	CENPP_HUMAN	centromere protein P	182					CENP-A containing nucleosome assembly (GO:0034080)|mitotic cell cycle (GO:0000278)|nucleosome assembly (GO:0006334)	chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)		p.R182H(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|skin(1)	16						TATCGTAAGCGCACGTTTAAA	0.343													G|||	2	0.000399361	0	0.0014	5008	,	,		17519	0		0.001	False		,,,				2504	0					ENST00000375587.3																			1	Substitution - Missense(1)	p.R182H(1)	haematopoietic_and_lymphoid_tissue(1)	endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|skin(1)	16						c.(544-546)cGc>cAc		centromere protein P		G	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	150	148	149		545	1.8	1	9	dbSNP_132	149	5,8595	4.3+/-15.6	0,5,4295	yes	missense	CENPP	NM_001012267.1	29	0,6,6497	AA,AG,GG		0.0581,0.0227,0.0461	probably-damaging	182/289	95142122	6,13000	2203	4300	6503	SO:0001583	missense	401541				CenH3-containing nucleosome assembly at centromere|mitotic prometaphase	chromosome, centromeric region|cytosol|nucleoplasm		g.chr9:95142122G>A	AK091247	CCDS35063.1, CCDS69618.1	9q22.31	2013-11-05			ENSG00000188312	ENSG00000188312			32933	protein-coding gene	gene with protein product		611505				16622419, 16622420	Standard	NM_001286969		Approved	RP11-19J3.3, CENP-P	uc004arz.3	Q6IPU0	OTTHUMG00000020228	ENST00000375587.3:c.545G>A	9.37:g.95142122G>A	ENSP00000364737:p.Arg182His						p.R182H	NM_001012267.1	NP_001012267.1	Q6IPU0	CENPP_HUMAN			5	1060	+			182					B3KRA5|B3KS17|Q5T9F8|Q5T9F9	Missense_Mutation	SNP	ENST00000375587.3	37	c.545G>A	CCDS35063.1	2	9.157509157509158E-4	0	0.0	1	0.0027624309392265192	0	0.0	1	0.0013192612137203166	G	13.77	2.336917	0.41398	2.27E-4	5.81E-4	ENSG00000188312	ENST00000375587;ENST00000402724	.	.	.	4.92	1.81	0.25067	.	0.826243	0.10755	N	0.637906	T	0.18759	0.0450	L	0.43152	1.355	0.09310	N	1	B;P	0.43885	0.002;0.82	B;B	0.35607	0.007;0.206	T	0.10337	-1.0634	9	0.12430	T	0.62	-0.8251	5.4346	0.16474	0.3146:0.1366:0.5488:0.0	.	182;141	Q6IPU0;Q7Z672	CENPP_HUMAN;.	H	182;141	.	ENSP00000364737:R182H	R	+	2	0	CENPP	94181943	0.019000	0.18553	0.979000	0.43373	0.645000	0.38454	0.675000	0.25232	0.581000	0.29539	-0.244000	0.11960	CGC		0.343	CENPP-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053098.1	NM_001012267		20	33	0	0	0	1	0	20	33					A	95142122	G	A	95142122	3	1	435	1	0	0	0	0	1	0	0	0	3240	1087	38	1	563	1	CENPP	9	95142122	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	123112	95142122	46071309	4336	25261											
ASPN	54829	broad.mit.edu	37	chr9	95228839	95228839	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atcttcgttagcttgttgttGttcaggatcagacccttgat	7	17	9	8	1	3	2	2	1	1	1	4	3	3	3	1	1	1	5	1	1	1	7			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:95228839G>A	ENST00000375544.3	-	4	645	c.402C>T	c.(400-402)aaC>aaT	p.N134N	ASPN_ENST00000375543.1_Silent_p.N134N|ASPN_ENST00000395538.3_Silent_p.N134N|CENPP_ENST00000375587.3_Intron	NM_017680.4	NP_060150	Q9BXN1	ASPN_HUMAN	asporin	134					bone mineralization (GO:0030282)|negative regulation of tooth mineralization (GO:0070171)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)	proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|skin(1)	9						GCTTGTTGTTGTTCAGGATCA	0.383																																						ENST00000375544.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|skin(1)	9						c.(400-402)aaC>aaT		asporin							193	183	186					9																	95228839		2203	4300	6503	SO:0001819	synonymous_variant	54829				bone mineralization|negative regulation of tooth mineralization|negative regulation of transforming growth factor beta receptor signaling pathway	proteinaceous extracellular matrix	calcium ion binding	g.chr9:95228839G>A	AF316824		9q22.31	2008-05-14	2007-02-15		ENSG00000106819	ENSG00000106819		"Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"	14872	protein-coding gene	gene with protein product	"asporin proteoglycan"	608135	"asporin (LRR class 1)"				Standard	NM_017680		Approved	FLJ20129, SLRR1C, PLAP1	uc004ase.2	Q9BXN1	OTTHUMG00000020227	ENST00000375544.3:c.402C>T	9.37:g.95228839G>A						ASPN_ENST00000395538.3_Silent_p.N134N|ASPN_ENST00000375543.1_Silent_p.N134N|CENPP_ENST00000375587.3_Intron	p.N134N	NM_017680.4	NP_060150.4	Q9BXN1	ASPN_HUMAN			4	645	-			134					Q5TBF3|Q96K79|Q96LD0|Q9NXP3	Silent	SNP	ENST00000375544.3	37	c.402C>T																																																																																					0.383	ASPN-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000053094.1	NM_017680		27	77	0	0	0	1	0	27	77					A	95228839	G	A	95228839	2	1	435	1	0	0	0	0	0	0	0	1	1057	1368	48	3		3	ASPN	9	95228839	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	86717	95228839	45984592	4337	25262											
ECM2	1842	broad.mit.edu	37	chr9	95258764	95258764	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatttcttctggaagaatgtTcctaaggaaaaatagacatg	16	12	8	5	0	2	2	0	0	2	2	3	4	3	4	1	2	0	1	1	2	7	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:95258764T>C	ENST00000344604.5	-	10	2082	c.1933A>G	c.(1933-1935)Aac>Gac	p.N645D	ECM2_ENST00000444490.2_Intron|CENPP_ENST00000375587.3_Intron	NM_001197295.1|NM_001393.3	NP_001184224.1|NP_001384.1	O94769	ECM2_HUMAN	extracellular matrix protein 2, female organ and adipocyte specific	645					cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	interstitial matrix (GO:0005614)|proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27						GGAAGAATGTTCCTAAGGAAA	0.303																																						ENST00000344604.5																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27						c.e10-1		extracellular matrix protein 2, female organ and adipocyte specific							55	55	55					9																	95258764		2203	4297	6500	SO:0001630	splice_region_variant	1842				cell-matrix adhesion		integrin binding	g.chr9:95258764T>C	AB011792	CCDS6698.1, CCDS56578.1	9q22.3	2008-07-21			ENSG00000106823	ENSG00000106823			3154	protein-coding gene	gene with protein product	"matrix glycoprotein SC1/ECM2"	603479				9790758	Standard	NM_001393		Approved		uc011lty.2	O94769	OTTHUMG00000020226	ENST00000344604.5:c.1932-1A>G	9.37:g.95258764T>C						ECM2_ENST00000444490.2_Intron|CENPP_ENST00000375587.3_Intron	p.N645_splice	NM_001197295.1|NM_001393.3	NP_001184224.1|NP_001384.1	O94769	ECM2_HUMAN			10	2082	-			645					B2R730|E2PU11|Q5T9F2|Q7Z3D0	Splice_Site	SNP	ENST00000344604.5	37	c.1931_splice	CCDS6698.1	.	.	.	.	.	.	.	.	.	.	T	14.08	2.427825	0.43122	.	.	ENSG00000106823	ENST00000344604	T	0.00848	5.62	5.44	2.91	0.33838	.	0.350509	0.28847	N	0.013944	T	0.00724	0.0024	N	0.10664	0.02	0.80722	D	1	B;B	0.30068	0.267;0.19	B;B	0.35971	0.215;0.067	T	0.67473	-0.5662	10	0.12103	T	0.63	.	10.8441	0.46733	0.0:0.0:0.2963:0.7037	.	645;623	O94769;B4DK93	ECM2_HUMAN;.	D	645	ENSP00000344758:N645D	ENSP00000344758:N645D	N	-	1	0	ECM2	94298585	0.501000	0.26099	0.998000	0.56505	0.981000	0.71138	0.367000	0.20382	0.985000	0.38656	0.533000	0.62120	AAC		0.303	ECM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053091.1	NM_001393	Missense_Mutation	18	27	0	0	0	1	0	18	27					C	95258764	T	C	95258764	5	2	435	1	0	0	0	0	0	0	1	0	4898	1797	62	4	170	4	ECM2	9	95258764	Splice_Site	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	29925	95258764	45954667	4338	25263											
ECM2	1842	broad.mit.edu	37	chr9	95280145	95280145	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttatgccctttaccaaacagTgtcccttctttcctagaaga	10	14	5	12	0	1	2	0	0	1	2	3	2	3	2	4	0	3	0	4	0	5	6			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:95280145T>C	ENST00000344604.5	-	3	454	c.305A>G	c.(304-306)cAc>cGc	p.H102R	ECM2_ENST00000375540.1_Missense_Mutation_p.H102R|ECM2_ENST00000444490.2_Missense_Mutation_p.H102R|CENPP_ENST00000375587.3_Intron	NM_001197295.1|NM_001393.3	NP_001184224.1|NP_001384.1	O94769	ECM2_HUMAN	extracellular matrix protein 2, female organ and adipocyte specific	102	VWFC. {ECO:0000255|PROSITE- ProRule:PRU00220}.				cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	interstitial matrix (GO:0005614)|proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27						TACCAAACAGTGTCCCTTCTT	0.403																																						ENST00000344604.5																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27						c.(304-306)cAc>cGc		extracellular matrix protein 2, female organ and adipocyte specific							118	118	118					9																	95280145		2203	4300	6503	SO:0001583	missense	1842				cell-matrix adhesion		integrin binding	g.chr9:95280145T>C	AB011792	CCDS6698.1, CCDS56578.1	9q22.3	2008-07-21			ENSG00000106823	ENSG00000106823			3154	protein-coding gene	gene with protein product	"matrix glycoprotein SC1/ECM2"	603479				9790758	Standard	NM_001393		Approved		uc011lty.2	O94769	OTTHUMG00000020226	ENST00000344604.5:c.305A>G	9.37:g.95280145T>C	ENSP00000344758:p.His102Arg					ECM2_ENST00000375540.1_Missense_Mutation_p.H102R|ECM2_ENST00000444490.2_Missense_Mutation_p.H102R|CENPP_ENST00000375587.3_Intron	p.H102R	NM_001197295.1|NM_001393.3	NP_001184224.1|NP_001384.1	O94769	ECM2_HUMAN			3	454	-			102			VWFC.		B2R730|E2PU11|Q5T9F2|Q7Z3D0	Missense_Mutation	SNP	ENST00000344604.5	37	c.305A>G	CCDS6698.1	.	.	.	.	.	.	.	.	.	.	T	11.40	1.628773	0.28978	.	.	ENSG00000106823	ENST00000444490;ENST00000344604;ENST00000375540;ENST00000395534	T;T;T;T	0.30448	1.53;1.53;1.53;1.53	5.61	0.6	0.17524	von Willebrand factor, type C (1);	0.269079	0.41294	N	0.000916	T	0.22859	0.0552	L	0.42245	1.32	0.28467	N	0.915592	B;B;B;B	0.09022	0.001;0.001;0.001;0.002	B;B;B;B	0.09377	0.003;0.002;0.002;0.004	T	0.17018	-1.0383	10	0.31617	T	0.26	.	10.4234	0.44363	0.0:0.3574:0.0:0.6426	.	102;102;102;102	Q5T9F3;O94769;B4DK93;O94769-2	.;ECM2_HUMAN;.;.	R	102	ENSP00000393971:H102R;ENSP00000344758:H102R;ENSP00000364690:H102R;ENSP00000378905:H102R	ENSP00000344758:H102R	H	-	2	0	ECM2	94319966	0.991000	0.36638	0.951000	0.38953	0.983000	0.72400	1.114000	0.31196	0.153000	0.19213	-0.250000	0.11733	CAC		0.403	ECM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053091.1	NM_001393		13	17	0	0	0	1	0	13	17					C	95280145	T	C	95280145	3	2	435	1	0	0	0	0	1	0	0	0	4898	1696	59	4	1826	4	ECM2	9	95280145	Missense_Mutation	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	21381	95280145	45933286	4339	25264											
IPPK	64768	broad.mit.edu	37	chr9	95400457	95400457	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tgtgcagtggggcccactggCcaggccgttggaagggaaga	8	6	18	9	1	0	1	0	0	0	1	0	3	0	3	3	6	1	2	3	6	2	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:95400457C>T	ENST00000287996.3	-	9	1018	c.742G>A	c.(742-744)Gcc>Acc	p.A248T	IPPK_ENST00000375522.1_5'Flank	NM_022755.5	NP_073592.1	Q9H8X2	IPPK_HUMAN	inositol 1,3,4,5,6-pentakisphosphate 2-kinase	248					inositol phosphate metabolic process (GO:0043647)|inositol phosphorylation (GO:0052746)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|intracellular (GO:0005622)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|inositol pentakisphosphate 2-kinase activity (GO:0035299)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(2)|urinary_tract(1)	15						GGCCCACTGGCCAGGCCGTTG	0.637																																						ENST00000287996.3																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(2)|urinary_tract(1)	15						c.(742-744)Gcc>Acc		inositol 1,3,4,5,6-pentakisphosphate 2-kinase							57	56	57					9																	95400457		2203	4300	6503	SO:0001583	missense	64768				inositol or phosphatidylinositol phosphorylation	cytoplasm|nucleus	ATP binding|inositol pentakisphosphate 2-kinase activity	g.chr9:95400457C>T	AK023225	CCDS6699.1	9q22.31	2010-12-02	2005-10-20	2005-10-20	ENSG00000127080	ENSG00000127080			14645	protein-coding gene	gene with protein product			"chromosome 9 open reading frame 12"	C9orf12		12084730	Standard	NM_022755		Approved	INSP5K2, FLJ13163, IP5K, IPK1	uc004asl.1	Q9H8X2	OTTHUMG00000020231	ENST00000287996.3:c.742G>A	9.37:g.95400457C>T	ENSP00000287996:p.Ala248Thr						p.A248T	NM_022755.5	NP_073592.1	Q9H8X2	IPPK_HUMAN			9	1018	-			248					Q5T9F7|Q9H7V8	Missense_Mutation	SNP	ENST00000287996.3	37	c.742G>A	CCDS6699.1	.	.	.	.	.	.	.	.	.	.	C	12.02	1.811618	0.32053	.	.	ENSG00000127080	ENST00000287996	T	0.30182	1.54	5.24	2.36	0.29203	.	0.478026	0.24647	N	0.036741	T	0.13756	0.0333	N	0.12182	0.205	0.80722	D	1	B	0.30563	0.285	B	0.28916	0.096	T	0.11348	-1.0591	10	0.22706	T	0.39	-11.1241	5.4905	0.16773	0.14:0.644:0.0:0.216	.	248	Q9H8X2	IPPK_HUMAN	T	248	ENSP00000287996:A248T	ENSP00000287996:A248T	A	-	1	0	IPPK	94440278	1.000000	0.71417	0.822000	0.32727	0.818000	0.46254	1.935000	0.40173	0.300000	0.22699	-0.258000	0.10820	GCC		0.637	IPPK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053101.1	NM_022755		8	14	0	0	0	1	0	8	14					T	95400457	C	T	95400457	3	4	435	1	0	0	0	0	1	0	0	0	7801	739	26	3	753	3	IPPK	9	95400457	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	120312	95400457	45812974	4340	25265											
BICD2	23299	broad.mit.edu	37	chr9	95481033	95481033	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gatctggtcacggatgatagCgatcaggttgtagatgttca	10	12	13	6	2	4	2	3	1	1	1	4	5	4	3	0	3	1	3	0	3	2	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:95481033C>T	ENST00000375512.3	-	5	1961	c.1894G>A	c.(1894-1896)Gct>Act	p.A632T	BICD2_ENST00000356884.6_Missense_Mutation_p.A632T	NM_015250.3	NP_056065.1	Q8TD16	BICD2_HUMAN	bicaudal D homolog 2 (Drosophila)	632					cell death (GO:0008219)|microtubule anchoring at microtubule organizing center (GO:0072393)|minus-end-directed organelle transport along microtubule (GO:0072385)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	Rab GTPase binding (GO:0017137)			cervix(3)|endometrium(4)|kidney(1)|large_intestine(6)|lung(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23						CGGATGATAGCGATCAGGTTG	0.652																																						ENST00000356884.6																			0				cervix(3)|endometrium(4)|kidney(1)|large_intestine(6)|lung(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23						c.(1894-1896)Gct>Act		bicaudal D homolog 2 (Drosophila)							95	92	93					9																	95481033		2203	4300	6503	SO:0001583	missense	23299				microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule	cytoplasmic vesicle|cytoskeleton|Golgi apparatus|plasma membrane	Rab GTPase binding	g.chr9:95481033C>T	AB014599	CCDS6700.1, CCDS35064.1	9q22.32	2008-02-05			ENSG00000185963	ENSG00000185963			17208	protein-coding gene	gene with protein product		609797				9734811	Standard	NM_001003800		Approved	KIAA0699	uc004asp.1	Q8TD16	OTTHUMG00000021036	ENST00000375512.3:c.1894G>A	9.37:g.95481033C>T	ENSP00000364662:p.Ala632Thr					BICD2_ENST00000375512.3_Missense_Mutation_p.A632T	p.A632T	NM_001003800.1	NP_001003800.1	Q8TD16	BICD2_HUMAN			5	1961	-			632					O75181|Q5TBQ2|Q5TBQ3|Q96LH2|Q9BT84|Q9H561	Missense_Mutation	SNP	ENST00000375512.3	37	c.1894G>A	CCDS6700.1	.	.	.	.	.	.	.	.	.	.	C	29.9	5.042192	0.93685	.	.	ENSG00000185963	ENST00000356884;ENST00000375512	T;T	0.53206	0.63;0.63	5.03	5.03	0.67393	.	0.000000	0.85682	D	0.000000	T	0.68824	0.3043	M	0.78049	2.395	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.68239	-0.5461	10	0.36615	T	0.2	-18.3132	16.2317	0.82347	0.0:1.0:0.0:0.0	.	632;632	Q8TD16-2;Q8TD16	.;BICD2_HUMAN	T	632	ENSP00000349351:A632T;ENSP00000364662:A632T	ENSP00000349351:A632T	A	-	1	0	BICD2	94520854	1.000000	0.71417	0.987000	0.45799	0.858000	0.48976	7.714000	0.84703	2.516000	0.84829	0.561000	0.74099	GCT		0.652	BICD2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000055508.1	NM_015250		26	46	0	0	0	1	0	26	46					T	95481033	C	T	95481033	3	4	435	1	0	0	0	0	1	0	0	0	1429	768	27	1	695	1	BICD2	9	95481033	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	80576	95481033	45732398	4341	25266											
BICD2	23299	broad.mit.edu	37	chr9	95481557	95481557	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cacgagcctcgtgcgtgctgCgcagtgccttgagctgctcg	4	9	14	14	5	0	1	0	1	0	0	2	2	0	1	2	0	7	4	2	0	0	1	rs370118099		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:95481557C>T	ENST00000375512.3	-	5	1437	c.1370G>A	c.(1369-1371)cGc>cAc	p.R457H	BICD2_ENST00000356884.6_Missense_Mutation_p.R457H	NM_015250.3	NP_056065.1	Q8TD16	BICD2_HUMAN	bicaudal D homolog 2 (Drosophila)	457					cell death (GO:0008219)|microtubule anchoring at microtubule organizing center (GO:0072393)|minus-end-directed organelle transport along microtubule (GO:0072385)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	Rab GTPase binding (GO:0017137)			cervix(3)|endometrium(4)|kidney(1)|large_intestine(6)|lung(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23						GTGCGTGCTGCGCAGTGCCTT	0.637																																						ENST00000356884.6																			0				cervix(3)|endometrium(4)|kidney(1)|large_intestine(6)|lung(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23						c.(1369-1371)cGc>cAc		bicaudal D homolog 2 (Drosophila)		C	HIS/ARG,HIS/ARG	0,4406		0,0,2203	84	70	75		1370,1370	0.6	0	9		75	2,8598	2.2+/-6.3	0,2,4298	no	missense,missense	BICD2	NM_001003800.1,NM_015250.3	29,29	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	benign,benign	457/856,457/825	95481557	2,13004	2203	4300	6503	SO:0001583	missense	23299				microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule	cytoplasmic vesicle|cytoskeleton|Golgi apparatus|plasma membrane	Rab GTPase binding	g.chr9:95481557C>T	AB014599	CCDS6700.1, CCDS35064.1	9q22.32	2008-02-05			ENSG00000185963	ENSG00000185963			17208	protein-coding gene	gene with protein product		609797				9734811	Standard	NM_001003800		Approved	KIAA0699	uc004asp.1	Q8TD16	OTTHUMG00000021036	ENST00000375512.3:c.1370G>A	9.37:g.95481557C>T	ENSP00000364662:p.Arg457His					BICD2_ENST00000375512.3_Missense_Mutation_p.R457H	p.R457H	NM_001003800.1	NP_001003800.1	Q8TD16	BICD2_HUMAN			5	1437	-			457					O75181|Q5TBQ2|Q5TBQ3|Q96LH2|Q9BT84|Q9H561	Missense_Mutation	SNP	ENST00000375512.3	37	c.1370G>A	CCDS6700.1	.	.	.	.	.	.	.	.	.	.	C	6.976	0.550018	0.13374	0.0	2.33E-4	ENSG00000185963	ENST00000356884;ENST00000375512	T;T	0.46819	0.86;0.86	5.2	0.614	0.17603	.	0.434279	0.24813	N	0.035381	T	0.29256	0.0728	L	0.27053	0.805	0.27309	N	0.957365	B;B	0.15141	0.01;0.012	B;B	0.14578	0.006;0.011	T	0.14090	-1.0485	10	0.39692	T	0.17	-4.4889	6.8674	0.24100	0.0:0.4716:0.0:0.5284	.	457;457	Q8TD16-2;Q8TD16	.;BICD2_HUMAN	H	457	ENSP00000349351:R457H;ENSP00000364662:R457H	ENSP00000349351:R457H	R	-	2	0	BICD2	94521378	0.964000	0.33143	0.005000	0.12908	0.090000	0.18270	1.967000	0.40491	0.285000	0.22329	0.561000	0.74099	CGC		0.637	BICD2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000055508.1	NM_015250		19	20	0	0	0	1	0	19	20					T	95481557	C	T	95481557	3	4	435	1	0	0	0	0	1	0	0	0	1429	768	27	1	1219	1	BICD2	9	95481557	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	524	95481557	45731874	4342	25267											
ZNF484	83744	broad.mit.edu	37	chr9	95618579	95618579	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cctactgaagtctacagttaCgtccttgaatgacactgatt	11	13	7	10	1	1	4	0	4	1	0	2	4	2	4	2	0	3	1	2	0	5	5	rs143365202		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:95618579C>T	ENST00000375495.3	-	3	185	c.37G>A	c.(37-39)Gta>Ata	p.V13I	ZNF484_ENST00000395506.3_Missense_Mutation_p.V15I|ZNF484_ENST00000395505.2_5'UTR|ZNF484_ENST00000332591.6_5'UTR|ANKRD19P_ENST00000473204.1_RNA	NM_031486.2	NP_113674.1	Q5JVG2	ZN484_HUMAN	zinc finger protein 484	13	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|cervix(1)|kidney(8)|large_intestine(10)|lung(10)|prostate(2)	33						TCTACAGTTACGTCCTTGAAT	0.308																																						ENST00000375495.3																			0				NS(1)|breast(1)|cervix(1)|kidney(8)|large_intestine(10)|lung(10)|prostate(2)	33						c.(37-39)Gta>Ata		zinc finger protein 484		C	,ILE/VAL	2,4404	4.2+/-10.8	0,2,2201	127	121	123		,37	0.6	0.4	9	dbSNP_134	123	0,8600		0,0,4300	no	utr-5,missense	ZNF484	NM_001007101.1,NM_031486.1	,29	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	,benign	,13/853	95618579	2,13004	2203	4300	6503	SO:0001583	missense	83744				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:95618579C>T	AK091203	CCDS35066.1, CCDS35067.1, CCDS59136.1	9q22.32	2013-01-08			ENSG00000127081	ENSG00000127081		"Zinc fingers, C2H2-type", "-"	23385	protein-coding gene	gene with protein product							Standard	NM_001007101		Approved	BA526D8.4, FLJ33884	uc004asu.2	Q5JVG2	OTTHUMG00000020236	ENST00000375495.3:c.37G>A	9.37:g.95618579C>T	ENSP00000364645:p.Val13Ile					ANKRD19P_ENST00000473204.1_RNA|ZNF484_ENST00000395505.2_5'UTR|ZNF484_ENST00000332591.6_5'UTR|ZNF484_ENST00000395506.3_Missense_Mutation_p.V15I	p.V13I	NM_031486.2	NP_113674.1	Q5JVG2	ZN484_HUMAN			3	185	-			13			KRAB.		B1AL89|B4DRI2	Missense_Mutation	SNP	ENST00000375495.3	37	c.37G>A	CCDS35066.1	.	.	.	.	.	.	.	.	.	.	C	4.721	0.134101	0.09032	4.54E-4	0.0	ENSG00000127081	ENST00000395506;ENST00000375495	T;T	0.08720	3.06;3.06	2.51	0.65	0.17812	Krueppel-associated box (4);	.	.	.	.	T	0.09730	0.0239	M	0.79258	2.445	0.80722	D	1	B;B	0.33841	0.428;0.428	B;B	0.26310	0.068;0.068	T	0.08006	-1.0743	9	0.62326	D	0.03	.	6.7149	0.23298	0.0:0.7412:0.0:0.2588	.	15;13	B4DRI2;Q5JVG2	.;ZN484_HUMAN	I	15;13	ENSP00000378882:V15I;ENSP00000364645:V13I	ENSP00000364645:V13I	V	-	1	0	ZNF484	94658400	0.386000	0.25180	0.427000	0.26684	0.080000	0.17528	0.702000	0.25631	0.173000	0.19788	-0.213000	0.12676	GTA		0.308	ZNF484-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000053111.2	XM_046861		30	44	0	0	0	1	0	30	44					T	95618579	C	T	95618579	3	4	435	1	0	0	0	0	1	0	0	0	17934	536	19	1	2533	1	ZNF484	9	95618579	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	137022	95618579	45594852	4343	25268											
FGD3	89846	broad.mit.edu	37	chr9	95796900	95796900	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gagagcggtgagacctggagCgaggtgtgggccgccatccc	7	5	18	11	3	0	2	0	1	0	2	1	6	1	3	4	4	2	0	4	4	0	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:95796900C>T	ENST00000375482.3	+	17	2359	c.1863C>T	c.(1861-1863)agC>agT	p.S621S	FGD3_ENST00000337352.6_Silent_p.S621S|FGD3_ENST00000416701.2_Silent_p.S620S|FGD3_ENST00000538555.1_Silent_p.S224S	NM_001083536.1	NP_001077005.1	Q5JSP0	FGD3_HUMAN	FYVE, RhoGEF and PH domain containing 3	621	PH 2. {ECO:0000255|PROSITE- ProRule:PRU00145}.				actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|ruffle (GO:0001726)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|small GTPase binding (GO:0031267)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|urinary_tract(1)	17						AGACCTGGAGCGAGGTGTGGG	0.672																																						ENST00000375482.3																			0				breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|urinary_tract(1)	17						c.(1861-1863)agC>agT		FYVE, RhoGEF and PH domain containing 3							38	46	44					9																	95796900		2036	4188	6224	SO:0001819	synonymous_variant	89846				actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding	g.chr9:95796900C>T	AK000004	CCDS43849.1, CCDS69619.1	9q22	2013-01-10	2004-08-24		ENSG00000127084	ENSG00000127084		"Zinc fingers, FYVE domain containing", "Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	16027	protein-coding gene	gene with protein product			"FGD1 family, member 3"			11214971	Standard	NM_001083536		Approved	FLJ00004, ZFYVE5	uc004asz.2	Q5JSP0	OTTHUMG00000021032	ENST00000375482.3:c.1863C>T	9.37:g.95796900C>T						FGD3_ENST00000337352.6_Silent_p.S621S|FGD3_ENST00000416701.2_Silent_p.S620S|FGD3_ENST00000538555.1_Silent_p.S224S	p.S621S	NM_001083536.1	NP_001077005.1	Q5JSP0	FGD3_HUMAN			17	2359	+			621			PH 2.		F8W7P2|Q4VX84|Q7Z7D9|Q8N5G1	Silent	SNP	ENST00000375482.3	37	c.1863C>T	CCDS43849.1																																																																																				0.672	FGD3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055493.1	NM_033086		12	24	0	0	0	1	0	12	24					T	95796900	C	T	95796900	2	4	435	1	0	0	0	0	0	0	0	1	5834	767	27	1		1	FGD3	9	95796900	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	178321	95796900	45416531	4344	25269											
WNK2	65268	broad.mit.edu	37	chr9	95993352	95993352	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gattggcgacttgggcctggCcactctgaaaagagcgtcat	9	9	13	10	2	2	2	1	1	1	1	2	4	2	2	2	3	1	0	2	3	2	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:95993352C>T	ENST00000297954.4	+	3	1037	c.1037C>T	c.(1036-1038)gCc>gTc	p.A346V	WNK2_ENST00000427277.2_5'UTR|WNK2_ENST00000349097.3_5'UTR|WNK2_ENST00000395477.2_Missense_Mutation_p.A346V|WNK2_ENST00000395475.2_Missense_Mutation_p.A332V|WNK2_ENST00000356055.3_5'UTR	NM_001282394.1	NP_001269323.1	Q9Y3S1	WNK2_HUMAN	WNK lysine deficient protein kinase 2	346	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				intracellular signal transduction (GO:0035556)|negative regulation of cell proliferation (GO:0008285)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of ion homeostasis (GO:2000021)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(1)|endometrium(11)|kidney(4)|large_intestine(5)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)	54						TTGGGCCTGGCCACTCTGAAA	0.537																																						ENST00000297954.4																			0				breast(2)|central_nervous_system(1)|endometrium(11)|kidney(4)|large_intestine(5)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)	54						c.(1036-1038)gCc>gTc		WNK lysine deficient protein kinase 2							177	179	178					9																	95993352		2203	4300	6503	SO:0001583	missense	65268				intracellular protein kinase cascade		ATP binding|protein binding|protein serine/threonine kinase activity	g.chr9:95993352C>T	AJ242724	CCDS75858.1	9q22.3	2008-02-05	2003-06-23	2005-01-22	ENSG00000165238	ENSG00000165238			14542	protein-coding gene	gene with protein product		606249	"serologically defined colon cancer antigen 43"	SDCCAG43, PRKWNK2		9610721, 11571656	Standard	NM_006648		Approved	NY-CO-43, KIAA1760	uc004atj.3	Q9Y3S1	OTTHUMG00000020247	ENST00000297954.4:c.1037C>T	9.37:g.95993352C>T	ENSP00000297954:p.Ala346Val					WNK2_ENST00000349097.3_5'UTR|WNK2_ENST00000395477.2_Missense_Mutation_p.A346V|WNK2_ENST00000356055.3_5'UTR|WNK2_ENST00000395475.2_Missense_Mutation_p.A332V|WNK2_ENST00000427277.2_5'UTR	p.A346V			Q9Y3S1	WNK2_HUMAN			3	1037	+			346			Protein kinase.		Q5VWF1|Q5VWF2|Q8IY36|Q9C0A3|Q9H3P4	Missense_Mutation	SNP	ENST00000297954.4	37	c.1037C>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	25.5|25.5	4.649535|4.649535	0.87958|0.87958	.|.	.|.	ENSG00000165238|ENSG00000165238	ENST00000448039;ENST00000297954;ENST00000395477;ENST00000395475|ENST00000432730	T;T;T;T|.	0.41758|.	0.99;0.99;0.99;0.99|.	5.52|5.52	5.52|5.52	0.82312|0.82312	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.77538|0.77538	0.4145|0.4145	M|M	0.76574|0.76574	2.34|2.34	0.80722|0.80722	D|D	1|1	D;D;D;D|.	0.89917|.	1.0;1.0;1.0;1.0|.	D;D;D;D|.	0.91635|.	0.999;0.999;0.999;0.999|.	T|T	0.76740|0.76740	-0.2848|-0.2848	10|5	0.87932|.	D|.	0|.	.|.	19.4417|19.4417	0.94823|0.94823	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	346;346;346;346|.	Q9Y3S1-2;Q9Y3S1-4;F8W9F9;Q9Y3S1|.	.;.;.;WNK2_HUMAN|.	V|S	346;346;346;332|342	ENSP00000412465:A346V;ENSP00000297954:A346V;ENSP00000378860:A346V;ENSP00000378858:A332V|.	ENSP00000297954:A346V|.	A|P	+|+	2|1	0|0	WNK2|WNK2	95033173|95033173	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.992000|0.992000	0.81027|0.81027	7.638000|7.638000	0.83328|0.83328	2.598000|2.598000	0.87819|0.87819	0.655000|0.655000	0.94253|0.94253	GCC|CCA		0.537	WNK2-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000317359.1	NM_006648		45	66	0	0	0	1	0	45	66					T	95993352	C	T	95993352	3	4	435	1	0	0	0	0	1	0	0	0	17375	739	26	3	1047	3	WNK2	9	95993352	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	196452	95993352	45220079	4345	25270											
WNK2	65268	broad.mit.edu	37	chr9	96079848	96079848	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gatgccacgtctgcccccagCgcccggccctctgtccacca	5	6	9	21	3	2	0	0	0	2	0	3	1	3	0	7	1	3	0	7	1	0	0	rs147707800		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:96079848C>T	ENST00000297954.4	+	29	6674	c.6674C>T	c.(6673-6675)gCg>gTg	p.A2225V	WNK2_ENST00000427277.2_Missense_Mutation_p.A1800V|WNK2_ENST00000349097.3_Missense_Mutation_p.A1837V|WNK2_ENST00000395477.2_Missense_Mutation_p.A2188V|WNK2_ENST00000471076.1_3'UTR|WNK2_ENST00000395475.2_3'UTR|WNK2_ENST00000356055.3_3'UTR	NM_001282394.1	NP_001269323.1	Q9Y3S1	WNK2_HUMAN	WNK lysine deficient protein kinase 2	2225					intracellular signal transduction (GO:0035556)|negative regulation of cell proliferation (GO:0008285)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of ion homeostasis (GO:2000021)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(1)|endometrium(11)|kidney(4)|large_intestine(5)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)	54						CTGCCCCCAGCGCCCGGCCCT	0.647													C|||	1	0.000199681	8e-04	0	5008	,	,		16423	0		0	False		,,,				2504	0					ENST00000297954.4																			0				breast(2)|central_nervous_system(1)|endometrium(11)|kidney(4)|large_intestine(5)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)	54						c.(6673-6675)gCg>gTg		WNK lysine deficient protein kinase 2		C	VAL/ALA	3,4403	6.2+/-15.9	0,3,2200	73	66	69		6563	-4.6	0	9	dbSNP_134	69	0,8600		0,0,4300	no	missense	WNK2	NM_006648.3	64	0,3,6500	TT,TC,CC		0.0,0.0681,0.0231	benign	2188/2218	96079848	3,13003	2203	4300	6503	SO:0001583	missense	65268				intracellular protein kinase cascade		ATP binding|protein binding|protein serine/threonine kinase activity	g.chr9:96079848C>T	AJ242724	CCDS75858.1	9q22.3	2008-02-05	2003-06-23	2005-01-22	ENSG00000165238	ENSG00000165238			14542	protein-coding gene	gene with protein product		606249	"serologically defined colon cancer antigen 43"	SDCCAG43, PRKWNK2		9610721, 11571656	Standard	NM_006648		Approved	NY-CO-43, KIAA1760	uc004atj.3	Q9Y3S1	OTTHUMG00000020247	ENST00000297954.4:c.6674C>T	9.37:g.96079848C>T	ENSP00000297954:p.Ala2225Val					WNK2_ENST00000471076.1_3'UTR|WNK2_ENST00000349097.3_Missense_Mutation_p.A1837V|WNK2_ENST00000395477.2_Missense_Mutation_p.A2188V|WNK2_ENST00000356055.3_3'UTR|WNK2_ENST00000395475.2_3'UTR|WNK2_ENST00000427277.2_Missense_Mutation_p.A1800V	p.A2225V			Q9Y3S1	WNK2_HUMAN			29	6674	+			2225					Q5VWF1|Q5VWF2|Q8IY36|Q9C0A3|Q9H3P4	Missense_Mutation	SNP	ENST00000297954.4	37	c.6674C>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	8.748|8.748	0.920669|0.920669	0.17982|0.17982	6.81E-4|6.81E-4	0.0|0.0	ENSG00000165238|ENSG00000165238	ENST00000297954;ENST00000395477;ENST00000349097;ENST00000427277|ENST00000432730;ENST00000448251	T;T;T;T|.	0.69806|.	-0.43;-0.39;0.2;0.23|.	5.8|5.8	-4.56|-4.56	0.03431|0.03431	.|.	0.891771|.	0.09390|.	N|.	0.808668|.	T|T	0.26846|0.26846	0.0657|0.0657	L|L	0.27053|0.27053	0.805|0.805	0.09310|0.09310	N|N	1|1	P;B;B;P|.	0.47762|.	0.827;0.006;0.011;0.9|.	B;B;B;B|.	0.34489|.	0.184;0.001;0.002;0.106|.	T|T	0.33879|0.33879	-0.9851|-0.9851	10|5	0.06891|.	T|.	0.86|.	.|.	7.9169|7.9169	0.29822|0.29822	0.0:0.2339:0.2223:0.5438|0.0:0.2339:0.2223:0.5438	.|.	2188;1679;2188;2225|.	Q9Y3S1-2;A6PVR4;F8W9F9;Q9Y3S1|.	.;.;.;WNK2_HUMAN|.	V|C	2225;2188;1837;1800|2184;985	ENSP00000297954:A2225V;ENSP00000378860:A2188V;ENSP00000297876:A1837V;ENSP00000411181:A1800V|.	ENSP00000297954:A2225V|.	A|R	+|+	2|1	0|0	WNK2|WNK2	95119669|95119669	0.063000|0.063000	0.20901|0.20901	0.000000|0.000000	0.03702|0.03702	0.142000|0.142000	0.21351|0.21351	-0.052000|-0.052000	0.11865|0.11865	-0.773000|-0.773000	0.04596|0.04596	0.650000|0.650000	0.86243|0.86243	GCG|CGC		0.647	WNK2-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000317359.1	NM_006648		9	11	0	0	0	1	0	9	11					T	96079848	C	T	96079848	3	4	435	1	0	0	0	0	1	0	0	0	17375	768	27	1	6673	1	WNK2	9	96079848	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	86496	96079848	45133583	4346	25271											
FAM120AOS	158293	broad.mit.edu	37	chr9	96214909	96214909	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggtccgcggccgcgtggggAcacttgagggctgggagaga	6	5	21	9	4	0	2	0	1	0	1	1	5	1	4	2	6	0	1	2	6	0	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:96214909A>G	ENST00000375412.5	-	1	965	c.83T>C	c.(82-84)gTc>gCc	p.V28A	FAM120A_ENST00000340893.4_Intron|FAM120AOS_ENST00000479094.1_5'Flank|FAM120A_ENST00000375389.3_Intron|FAM120A_ENST00000277165.6_Intron|FAM120A_ENST00000333936.5_Intron|FAM120AOS_ENST00000423591.1_5'Flank	NM_198841.2	NP_942138.2	Q5T036	F120S_HUMAN	family with sequence similarity 120A opposite strand	28										kidney(1)|large_intestine(1)|lung(3)|skin(1)	6						CCGCGTGGGGACACTTGAGGG	0.662																																						ENST00000375412.5																			0				kidney(1)|large_intestine(1)|lung(3)|skin(1)	6						c.(82-84)gTc>gCc		family with sequence similarity 120A opposite strand							17	20	19					9																	96214909		1937	3925	5862	SO:0001583	missense	158293							g.chr9:96214909A>G	AK056096	CCDS6705.1	9q22.32	2008-02-05	2006-07-04	2006-07-04	ENSG00000188938	ENSG00000188938			23389	protein-coding gene	gene with protein product			"chromosome 9 open reading frame 10 opposite strand"	C9orf10OS		14585507	Standard	NM_198841		Approved		uc004atu.4	Q5T036	OTTHUMG00000020251	ENST00000375412.5:c.83T>C	9.37:g.96214909A>G	ENSP00000364561:p.Val28Ala					FAM120A_ENST00000333936.5_Intron|FAM120A_ENST00000340893.4_Intron|FAM120A_ENST00000375389.3_Intron|FAM120A_ENST00000277165.6_Intron	p.V28A	NM_198841.2	NP_942138.2	Q5T036	F120S_HUMAN			1	965	-			28					A6NN20	Missense_Mutation	SNP	ENST00000375412.5	37	c.83T>C	CCDS6705.1	.	.	.	.	.	.	.	.	.	.	A	9.580	1.123366	0.20959	.	.	ENSG00000188938	ENST00000375412	T	0.53857	0.6	3.12	-5.67	0.02444	.	.	.	.	.	T	0.20941	0.0504	N	0.08118	0	0.09310	N	0.999997	P	0.37573	0.6	B	0.36885	0.235	T	0.21314	-1.0249	9	0.18710	T	0.47	-1.3832	0.973	0.01420	0.2307:0.3586:0.1162:0.2945	.	28	Q5T036	F120S_HUMAN	A	28	ENSP00000364561:V28A	ENSP00000364561:V28A	V	-	2	0	FAM120AOS	95254730	0.000000	0.05858	0.000000	0.03702	0.032000	0.12392	-0.264000	0.08658	-0.804000	0.04410	-0.349000	0.07799	GTC		0.662	FAM120AOS-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053154.1			9	20	0	0	0	1	0	9	20					G	96214909	A	G	96214909	3	3	435	1	0	0	0	0	1	0	0	0	5416	275	10	4	699	4	FAM120AOS	9	96214909	Missense_Mutation	SNP	A	TCGA-XK-AAIW-01A-11D-A41K-08	135061	96214909	44998522	4347	25272											
PHF2	5253	broad.mit.edu	37	chr9	96439899	96439899	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgaaaaagggcatggcgaccGccaagcagaggcttgggaaa	14	3	15	9	3	0	1	0	0	0	1	0	4	0	2	2	4	1	3	2	4	4	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:96439899G>A	ENST00000359246.4	+	22	3599	c.3232G>A	c.(3232-3234)Gcc>Acc	p.A1078T	PHF2_ENST00000375376.4_Missense_Mutation_p.A309T	NM_005392.3	NP_005383.3	O75151	PHF2_HUMAN	PHD finger protein 2	1078					liver development (GO:0001889)|negative regulation of chromatin silencing at rDNA (GO:0061188)|protein demethylation (GO:0006482)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|histone demethylase activity (H3-K9 specific) (GO:0032454)|iron ion binding (GO:0005506)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40		Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;9.11e-28)		CATGGCGACCGCCAAGCAGAG	0.537																																						ENST00000359246.4																			0				breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						c.(3232-3234)Gcc>Acc		PHD finger protein 2							115	133	127					9																	96439899		2203	4300	6503	SO:0001583	missense	5253				liver development|negative regulation of chromatin silencing at rDNA|transcription, DNA-dependent	nucleolus	histone demethylase activity (H3-K9 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding	g.chr9:96439899G>A	AF043725	CCDS35069.1	9q22	2013-01-28			ENSG00000197724	ENSG00000197724		"Chromatin-modifying enzymes / K-demethylases", "Zinc fingers, PHD-type"	8920	protein-coding gene	gene with protein product	"jumonji C domain-containing histone demethylase 1E", "centromere protein 35"	604351				10051327, 20129925	Standard	NM_005392		Approved	KIAA0662, JHDM1E, CENP-35	uc004aub.3	O75151	OTTHUMG00000020253	ENST00000359246.4:c.3232G>A	9.37:g.96439899G>A	ENSP00000352185:p.Ala1078Thr					PHF2_ENST00000375376.4_Missense_Mutation_p.A309T	p.A1078T	NM_005392.3	NP_005383.3	O75151	PHF2_HUMAN		OV - Ovarian serous cystadenocarcinoma(323;9.11e-28)	22	3599	+		Myeloproliferative disorder(762;0.0255)	1078					Q4VXG0|Q8N3K2|Q9Y6N4	Missense_Mutation	SNP	ENST00000359246.4	37	c.3232G>A	CCDS35069.1	.	.	.	.	.	.	.	.	.	.	G	15.09	2.730297	0.48939	.	.	ENSG00000197724	ENST00000359246;ENST00000375376	T;T	0.60299	0.2;0.58	5.25	4.34	0.51931	.	0.053491	0.85682	D	0.000000	T	0.65037	0.2653	L	0.46157	1.445	0.58432	D	0.999998	D	0.71674	0.998	P	0.56398	0.797	T	0.69281	-0.5186	10	0.87932	D	0	-27.4364	15.2665	0.73666	0.0:0.0:0.8586:0.1414	.	1078	O75151	PHF2_HUMAN	T	1078;309	ENSP00000352185:A1078T;ENSP00000364525:A309T	ENSP00000352185:A1078T	A	+	1	0	PHF2	95479720	1.000000	0.71417	0.996000	0.52242	0.820000	0.46376	8.958000	0.93099	1.188000	0.43014	-0.310000	0.09108	GCC		0.537	PHF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053162.1	NM_005392		11	69	0	0	0	1	0	11	69					A	96439899	G	A	96439899	3	1	435	1	0	0	0	0	1	0	0	0	11830	1087	38	1	3318	1	PHF2	9	96439899	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	224990	96439899	44773532	4348	25273											
HIATL1	84641	broad.mit.edu	37	chr9	97218567	97218567	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gctgccatgtccagcatcacGtttccggcaatcagtgccct	7	10	9	15	2	2	0	2	0	0	0	4	0	4	0	4	1	3	4	4	1	1	1	rs144765011	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:97218567G>A	ENST00000375344.3	+	10	1343	c.1074G>A	c.(1072-1074)acG>acA	p.T358T	HIATL1_ENST00000428393.2_Intron	NM_032558.2	NP_115947.2	Q5SR56	HIAL1_HUMAN	hippocampus abundant transcript-like 1	358					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|pancreas(1)	11		Acute lymphoblastic leukemia(62;0.136)				CCAGCATCACGTTTCCGGCAA	0.572																																					Pancreas(77;1260 1915 1973 10423)	ENST00000375344.3																			0				endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|pancreas(1)	11						c.(1072-1074)acG>acA		hippocampus abundant transcript-like 1		G		0,4406		0,0,2203	122	94	104		1074	-10.4	0	9	dbSNP_134	104	5,8595	4.3+/-15.6	0,5,4295	no	coding-synonymous	HIATL1	NM_032558.2		0,5,6498	AA,AG,GG		0.0581,0.0,0.0384		358/507	97218567	5,13001	2203	4300	6503	SO:0001819	synonymous_variant	84641				transmembrane transport	integral to membrane|plasma membrane	protein binding|transporter activity	g.chr9:97218567G>A	AK027659	CCDS6710.2	9q22.32	2009-12-04			ENSG00000148110	ENSG00000148110			23376	protein-coding gene	gene with protein product							Standard	XM_005252277		Approved	FLJ14753	uc004aur.3	Q5SR56	OTTHUMG00000020265	ENST00000375344.3:c.1074G>A	9.37:g.97218567G>A						HIATL1_ENST00000428393.2_Intron	p.T358T	NM_032558.2	NP_115947.2	Q5SR56	HIAL1_HUMAN			10	1343	+		Acute lymphoblastic leukemia(62;0.136)	358					B4DUE6|E9PD58|Q3KQT4|Q53GU5|Q8WU95|Q96SM4	Silent	SNP	ENST00000375344.3	37	c.1074G>A	CCDS6710.2																																																																																				0.572	HIATL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053184.1	NM_032558		25	47	0	0	0	1	0	25	47					A	97218567	G	A	97218567	2	1	435	1	0	0	0	0	0	0	0	1	7098	1132	40	1		1	HIATL1	9	97218567	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	778668	97218567	43994864	4349	25274											
FBP2	8789	broad.mit.edu	37	chr9	97349726	97349726	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttcacctcatctcccgtcaCgttaacgcttcctgcgattc	6	13	5	17	4	4	0	3	0	1	0	7	1	5	0	3	0	2	2	3	0	1	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:97349726C>T	ENST00000375337.3	-	2	262	c.196G>A	c.(196-198)Gtg>Atg	p.V66M		NM_003837.2	NP_003828.2	O00757	F16P2_HUMAN	fructose-1,6-bisphosphatase 2	66					carbohydrate metabolic process (GO:0005975)|fructose metabolic process (GO:0006000)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|small molecule metabolic process (GO:0044281)	cell junction (GO:0030054)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	fructose 1,6-bisphosphate 1-phosphatase activity (GO:0042132)|metal ion binding (GO:0046872)			endometrium(1)|large_intestine(3)|lung(5)	9		Acute lymphoblastic leukemia(62;0.136)				TCTCCCGTCACGTTAACGCTT	0.493																																						ENST00000375337.3																			0				endometrium(1)|large_intestine(3)|lung(5)	9						c.(196-198)Gtg>Atg		fructose-1,6-bisphosphatase 2							168	174	172					9																	97349726		2203	4300	6503	SO:0001583	missense	8789				fructose metabolic process|gluconeogenesis	cytosol	fructose 1,6-bisphosphate 1-phosphatase activity|fructose-2,6-bisphosphate 2-phosphatase activity|metal ion binding	g.chr9:97349726C>T	Y10812	CCDS6711.1	9q22.3	2012-08-13			ENSG00000130957	ENSG00000130957	3.1.3.11		3607	protein-coding gene	gene with protein product		603027				9678974	Standard	NM_003837		Approved		uc004auv.3	O00757	OTTHUMG00000020269	ENST00000375337.3:c.196G>A	9.37:g.97349726C>T	ENSP00000364486:p.Val66Met						p.V66M	NM_003837.2	NP_003828.2	O00757	F16P2_HUMAN			2	262	-		Acute lymphoblastic leukemia(62;0.136)	66					Q17R39|Q6FI53	Missense_Mutation	SNP	ENST00000375337.3	37	c.196G>A	CCDS6711.1	.	.	.	.	.	.	.	.	.	.	C	25.1	4.599004	0.87055	.	.	ENSG00000130957	ENST00000375337	T	0.73047	-0.71	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	D	0.84933	0.5582	M	0.90977	3.165	0.80722	D	1	D	0.65815	0.995	P	0.53689	0.732	D	0.88192	0.2878	10	0.87932	D	0	-6.8846	19.8405	0.96681	0.0:1.0:0.0:0.0	.	66	O00757	F16P2_HUMAN	M	66	ENSP00000364486:V66M	ENSP00000364486:V66M	V	-	1	0	FBP2	96389547	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	5.869000	0.69613	2.692000	0.91855	0.655000	0.94253	GTG		0.493	FBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053189.1	NM_003837		13	95	0	0	0	1	0	13	95					T	97349726	C	T	97349726	3	4	435	1	0	0	0	0	1	0	0	0	5706	536	19	1	847	1	FBP2	9	97349726	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	131159	97349726	43863705	4350	25275											
FBP1	2203	broad.mit.edu	37	chr9	97380094	97380094	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tccaacggacacaaggcaatCgatgttggaagatccatcaa	15	7	9	10	2	1	1	1	0	0	1	4	4	3	3	2	3	1	2	2	3	5	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:97380094C>T	ENST00000375326.4	-	3	578	c.382G>A	c.(382-384)Gat>Aat	p.D128N	FBP1_ENST00000415431.1_Missense_Mutation_p.D128N	NM_000507.3	NP_000498.2	P09467	F16P1_HUMAN	fructose-1,6-bisphosphatase 1	128					carbohydrate metabolic process (GO:0005975)|cellular response to drug (GO:0035690)|cellular response to magnesium ion (GO:0071286)|dephosphorylation (GO:0016311)|fructose 6-phosphate metabolic process (GO:0006002)|fructose metabolic process (GO:0006000)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|negative regulation of cell growth (GO:0030308)|negative regulation of glycolytic process (GO:0045820)|negative regulation of Ras protein signal transduction (GO:0046580)|protein homotetramerization (GO:0051289)|regulation of gluconeogenesis (GO:0006111)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	AMP binding (GO:0016208)|fructose 1,6-bisphosphate 1-phosphatase activity (GO:0042132)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|monosaccharide binding (GO:0048029)			kidney(1)|liver(1)|lung(1)	3		Acute lymphoblastic leukemia(62;0.136)			Adenosine monophosphate(DB00131)	ACAAGGCAATCGATGTTGGAA	0.383																																					Ovarian(142;590 2466 25593 44496)	ENST00000415431.1																			0				kidney(1)|liver(1)|lung(1)	3						c.(382-384)Gat>Aat		fructose-1,6-bisphosphatase 1	Adenosine monophosphate(DB00131)						103	86	92					9																	97380094		2203	4300	6503	SO:0001583	missense	2203				gluconeogenesis	cytosol	fructose 1,6-bisphosphate 1-phosphatase activity|fructose-2,6-bisphosphate 2-phosphatase activity|identical protein binding|metal ion binding	g.chr9:97380094C>T	M19922	CCDS6712.1	9q22.3	2012-08-13			ENSG00000165140	ENSG00000165140	3.1.3.11		3606	protein-coding gene	gene with protein product		611570		FBP		8387495	Standard	NM_000507		Approved		uc004auw.4	P09467	OTTHUMG00000020268	ENST00000375326.4:c.382G>A	9.37:g.97380094C>T	ENSP00000364475:p.Asp128Asn					FBP1_ENST00000375326.4_Missense_Mutation_p.D128N	p.D128N	NM_001127628.1	NP_001121100.1	P09467	F16P1_HUMAN			4	611	-		Acute lymphoblastic leukemia(62;0.136)	128					O75571|Q53F94|Q96E46	Missense_Mutation	SNP	ENST00000375326.4	37	c.382G>A	CCDS6712.1	.	.	.	.	.	.	.	.	.	.	C	29.2	4.989234	0.93106	.	.	ENSG00000165140	ENST00000375326;ENST00000415431;ENST00000414122	T;T;T	0.79554	-1.28;-1.28;-1.28	6.01	5.11	0.69529	.	0.042083	0.85682	D	0.000000	D	0.91012	0.7173	M	0.92367	3.3	0.80722	D	1	D	0.63046	0.992	P	0.61874	0.895	D	0.93146	0.6545	10	0.87932	D	0	-36.7106	15.0403	0.71785	0.0:0.9324:0.0:0.0676	.	128	P09467	F16P1_HUMAN	N	128;128;44	ENSP00000364475:D128N;ENSP00000408025:D128N;ENSP00000411619:D44N	ENSP00000364475:D128N	D	-	1	0	FBP1	96419915	1.000000	0.71417	0.381000	0.26106	0.913000	0.54294	7.639000	0.83342	1.558000	0.49541	0.650000	0.86243	GAT		0.383	FBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053187.1	NM_000507		16	35	0	0	0	1	0	16	35					T	97380094	C	T	97380094	3	4	435	1	0	0	0	0	1	0	0	0	5705	884	31	2	654	2	FBP1	9	97380094	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	30368	97380094	43833337	4351	25276											
FANCC	2176	broad.mit.edu	37	chr9	97873813	97873813	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ggccaagagccacagcagggCcgtggggggttcggctgccg	6	4	19	12	3	0	1	0	0	0	1	1	1	0	1	4	6	3	3	4	6	1	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:97873813C>T	ENST00000289081.3	-	13	1515	c.1261G>A	c.(1261-1263)Gcc>Acc	p.A421T	RP11-80I15.4_ENST00000423075.1_RNA|FANCC_ENST00000375305.1_Missense_Mutation_p.A421T|FANCC_ENST00000464653.1_5'Flank	NM_000136.2	NP_000127.2	Q00597	FANCC_HUMAN	Fanconi anemia, complementation group C	421					DNA repair (GO:0006281)|germ cell development (GO:0007281)|myeloid cell homeostasis (GO:0002262)|nucleotide-excision repair (GO:0006289)|protein complex assembly (GO:0006461)|removal of superoxide radicals (GO:0019430)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Fanconi anaemia nuclear complex (GO:0043240)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				kidney(1)|skin(1)|upper_aerodigestive_tract(1)	3		Acute lymphoblastic leukemia(62;0.138)				CACAGCAGGGCCGTGGGGGGT	0.602			"D, Mis, N, F, S"			"AML, leukemia"		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																													ENST00000289081.3			yes	Rec		Fanconi anaemia C	9	9q22.3	2176	"D, Mis, N, F, S"	"Fanconi anemia, complementation group C"			L		"AML, leukemia"			0				kidney(1)|skin(1)|upper_aerodigestive_tract(1)	3						c.(1261-1263)Gcc>Acc	Involved in tolerance or repair of DNA crosslinks	Fanconi anemia, complementation group C							76	78	78					9																	97873813		2203	4300	6503	SO:0001583	missense	2176	Fanconi Anemia	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	protein complex assembly	cytosol|nucleoplasm	protein binding	g.chr9:97873813C>T	BC006303	CCDS35071.1, CCDS75861.1	9q22.3	2014-09-17			ENSG00000158169	ENSG00000158169		"Fanconi anemia, complementation groups"	3584	protein-coding gene	gene with protein product		613899		FACC		1303234	Standard	NM_001243743		Approved	FAC, FA3	uc004avh.3	Q00597	OTTHUMG00000020279	ENST00000289081.3:c.1261G>A	9.37:g.97873813C>T	ENSP00000289081:p.Ala421Thr					FANCC_ENST00000375305.1_Missense_Mutation_p.A421T	p.A421T	NM_000136.2	NP_000127.2	Q00597	FANCC_HUMAN			13	1515	-		Acute lymphoblastic leukemia(62;0.138)	421					B1ALR8	Missense_Mutation	SNP	ENST00000289081.3	37	c.1261G>A	CCDS35071.1	.	.	.	.	.	.	.	.	.	.	C	16.77	3.213833	0.58452	.	.	ENSG00000158169	ENST00000289081;ENST00000375305	T;T	0.58940	0.3;0.3	5.93	5.0	0.66597	.	0.165132	0.53938	D	0.000057	T	0.71517	0.3349	M	0.64997	1.995	0.25185	N	0.990176	D	0.69078	0.997	D	0.63113	0.911	T	0.65113	-0.6247	10	0.59425	D	0.04	-2.8015	16.8735	0.86045	0.0:0.8722:0.1278:0.0	.	421	Q00597	FANCC_HUMAN	T	421	ENSP00000289081:A421T;ENSP00000364454:A421T	ENSP00000289081:A421T	A	-	1	0	FANCC	96913634	0.638000	0.27225	0.399000	0.26333	0.102000	0.19082	1.142000	0.31540	2.814000	0.96858	0.563000	0.77884	GCC		0.602	FANCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053219.1	NM_000136		5	39	0	0	0	1	0	5	39					T	97873813	C	T	97873813	3	4	435	1	0	0	0	0	1	0	0	0	5664	739	26	3	427	3	FANCC	9	97873813	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	493719	97873813	43339618	4352	25277											
ZNF367	195828	broad.mit.edu	37	chr9	99154699	99154699	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcgccagccactcggccgCggccttgttgtcggcagcct	3	8	12	18	5	0	0	0	0	0	0	3	0	0	0	6	3	2	2	6	3	0	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:99154699C>T	ENST00000375256.4	-	4	1107	c.811G>A	c.(811-813)Gcg>Acg	p.A271T		NM_153695.3	NP_710162.1	Q7RTV3	ZN367_HUMAN	zinc finger protein 367	271					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(1)|endometrium(4)|large_intestine(3)|lung(3)|prostate(1)	12		Acute lymphoblastic leukemia(62;0.0167)				CACTCGGCCGCGGCCTTGTTG	0.622																																						ENST00000375256.4																			0				cervix(1)|endometrium(4)|large_intestine(3)|lung(3)|prostate(1)	12						c.(811-813)Gcg>Acg		zinc finger protein 367							127	110	116					9																	99154699		2203	4300	6503	SO:0001583	missense	195828				regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr9:99154699C>T	AK091289	CCDS6718.1	9q22	2008-05-02			ENSG00000165244	ENSG00000165244		"Zinc fingers, C2H2-type"	18320	protein-coding gene	gene with protein product		610160					Standard	NM_153695		Approved	FLJ33970	uc004awf.3	Q7RTV3	OTTHUMG00000020295	ENST00000375256.4:c.811G>A	9.37:g.99154699C>T	ENSP00000364405:p.Ala271Thr						p.A271T	NM_153695.3	NP_710162.1	Q7RTV3	ZN367_HUMAN			4	1107	-		Acute lymphoblastic leukemia(62;0.0167)	271					Q6Q7C8	Missense_Mutation	SNP	ENST00000375256.4	37	c.811G>A	CCDS6718.1	.	.	.	.	.	.	.	.	.	.	C	17.28	3.348693	0.61183	.	.	ENSG00000165244	ENST00000375256	T	0.05258	3.47	5.28	5.28	0.74379	.	0.119797	0.56097	D	0.000027	T	0.02848	0.0085	N	0.08118	0	0.33856	D	0.633219	P;B	0.37594	0.601;0.041	B;B	0.23018	0.043;0.003	T	0.49652	-0.8917	10	0.24483	T	0.36	-5.4455	12.4173	0.55500	0.0:0.9238:0.0:0.0762	.	271;271	Q7RTV3-2;Q7RTV3	.;ZN367_HUMAN	T	271	ENSP00000364405:A271T	ENSP00000364405:A271T	A	-	1	0	ZNF367	98194520	1.000000	0.71417	0.996000	0.52242	0.892000	0.51952	5.390000	0.66261	2.747000	0.94245	0.462000	0.41574	GCG		0.622	ZNF367-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053266.1			41	46	0	0	0	1	0	41	46					T	99154699	C	T	99154699	3	4	435	1	0	0	0	0	1	0	0	0	17868	768	27	1	249	1	ZNF367	9	99154699	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	1280886	99154699	42058732	4353	25278											
HABP4	22927	broad.mit.edu	37	chr9	99227684	99227684	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggcccgagagggggtatgcGcggcagaggcagaggtggcc	8	3	21	9	3	0	3	0	0	0	3	0	4	0	3	2	7	1	3	2	7	1	1	rs200260228		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:99227684G>A	ENST00000375249.4	+	3	653	c.578G>A	c.(577-579)cGc>cAc	p.R193H	HABP4_ENST00000375251.3_Intron	NM_014282.2	NP_055097.2			hyaluronan binding protein 4											NS(1)|cervix(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	13		Acute lymphoblastic leukemia(62;0.0169)|all_hematologic(171;0.214)				GGGGGTATGCGCGGCAGAGGC	0.483													G|||	1	0.000199681	0	0	5008	,	,		16561	0.001		0	False		,,,				2504	0					ENST00000375249.4																			0				NS(1)|cervix(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	13						c.(577-579)cGc>cAc		hyaluronan binding protein 4							102	115	110					9																	99227684		2203	4300	6503	SO:0001583	missense	22927				platelet activation|platelet degranulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|extracellular region|nucleus	protein binding	g.chr9:99227684G>A	AF241831	CCDS6719.1	9q22.3-q31	2008-02-05			ENSG00000130956	ENSG00000130956			17062	protein-coding gene	gene with protein product						9523163, 10887182	Standard	XM_005251812		Approved	IHABP4, SERBP1L	uc010msg.3	Q5JVS0	OTTHUMG00000020298	ENST00000375249.4:c.578G>A	9.37:g.99227684G>A	ENSP00000364398:p.Arg193His					HABP4_ENST00000375251.3_Intron	p.R193H	NM_014282.2	NP_055097.2	Q5JVS0	HABP4_HUMAN			3	653	+		Acute lymphoblastic leukemia(62;0.0169)|all_hematologic(171;0.214)	193						Missense_Mutation	SNP	ENST00000375249.4	37	c.578G>A	CCDS6719.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	16.88	3.245902	0.59103	.	.	ENSG00000130956	ENST00000375249	T	0.37235	1.21	4.86	4.86	0.63082	.	0.269438	0.30538	N	0.009418	T	0.40645	0.1125	L	0.43923	1.385	0.39173	D	0.962633	D	0.57571	0.98	P	0.50231	0.635	T	0.34378	-0.9831	10	0.54805	T	0.06	-7.7391	13.9779	0.64284	0.0759:0.0:0.9241:0.0	.	193	Q5JVS0	HABP4_HUMAN	H	193	ENSP00000364398:R193H	ENSP00000364398:R193H	R	+	2	0	HABP4	98267505	1.000000	0.71417	0.354000	0.25760	0.375000	0.29983	3.404000	0.52623	2.686000	0.91538	0.644000	0.83932	CGC		0.483	HABP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053269.1	NM_014282		34	59	0	0	0	1	0	34	59					A	99227684	G	A	99227684	3	1	435	1	0	0	0	0	1	0	0	0	6939	1087	38	1	588	1	HABP4	9	99227684	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	72985	99227684	41985747	4354	25279											
ZNF510	22869	broad.mit.edu	37	chr9	99521387	99521387	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcaaaagttttcccacattcGttacatttgaatggtttctc	10	16	6	9	1	1	1	0	1	1	0	4	1	2	1	1	1	1	4	1	1	4	6			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:99521387G>A	ENST00000375231.1	-	6	2375	c.1725C>T	c.(1723-1725)aaC>aaT	p.N575N	ZNF510_ENST00000223428.4_Silent_p.N575N			Q9Y2H8	ZN510_HUMAN	zinc finger protein 510	575					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|stomach(1)|urinary_tract(1)	21		Acute lymphoblastic leukemia(62;0.0527)				TCCCACATTCGTTACATTTGA	0.388																																						ENST00000375231.1																			0				NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|stomach(1)|urinary_tract(1)	21						c.(1723-1725)aaC>aaT		zinc finger protein 510							78	77	77					9																	99521387		2203	4300	6503	SO:0001819	synonymous_variant	22869				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:99521387G>A	AB023189	CCDS35074.1	9q22.33	2013-01-08			ENSG00000081386	ENSG00000081386		"Zinc fingers, C2H2-type", "-"	29161	protein-coding gene	gene with protein product						10231032	Standard	XM_005251807		Approved	KIAA0972	uc004awn.1	Q9Y2H8	OTTHUMG00000020303	ENST00000375231.1:c.1725C>T	9.37:g.99521387G>A						ZNF510_ENST00000223428.4_Silent_p.N575N	p.N575N			Q9Y2H8	ZN510_HUMAN			6	2375	-		Acute lymphoblastic leukemia(62;0.0527)	575					Q5SZP5	Silent	SNP	ENST00000375231.1	37	c.1725C>T	CCDS35074.1																																																																																				0.388	ZNF510-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053287.1	NM_014930		34	63	0	0	0	1	0	34	63					A	99521387	G	A	99521387	2	1	435	1	0	0	0	0	0	0	0	1	17951	1136	40	1		1	ZNF510	9	99521387	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	293703	99521387	41692044	4355	25280											
ZNF782	158431	broad.mit.edu	37	chr9	99581281	99581281	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gctgaatgtctctgtacatgGgtgataatcagagtatttat	11	15	10	5	0	2	3	1	2	1	1	3	3	2	3	0	1	1	3	0	1	5	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:99581281G>A	ENST00000481138.1	-	6	1685	c.1024C>T	c.(1024-1026)Cca>Tca	p.P342S	ZNF782_ENST00000466833.1_5'Flank|ZNF782_ENST00000535338.1_Missense_Mutation_p.P210S	NM_001001662.1	NP_001001662.1	Q6ZMW2	ZN782_HUMAN	zinc finger protein 782	342					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(8)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)	33		Acute lymphoblastic leukemia(62;0.0527)				TCTGTACATGGGTGATAATCA	0.408																																						ENST00000481138.1																			0				NS(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(8)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)	33						c.(1024-1026)Cca>Tca		zinc finger protein 782							150	140	143					9																	99581281		2203	4300	6503	SO:0001583	missense	158431				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:99581281G>A	AK131468	CCDS35075.1	9q22.33	2013-01-08			ENSG00000196597	ENSG00000196597		"Zinc fingers, C2H2-type", "-"	33110	protein-coding gene	gene with protein product							Standard	NM_001001662		Approved	FLJ16636	uc004awp.1	Q6ZMW2	OTTHUMG00000020310	ENST00000481138.1:c.1024C>T	9.37:g.99581281G>A	ENSP00000419397:p.Pro342Ser					ZNF782_ENST00000535338.1_Missense_Mutation_p.P210S	p.P342S	NM_001001662.1	NP_001001662.1	Q6ZMW2	ZN782_HUMAN			6	1685	-		Acute lymphoblastic leukemia(62;0.0527)	342					B2RNR0	Missense_Mutation	SNP	ENST00000481138.1	37	c.1024C>T	CCDS35075.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	8.847|8.847	0.943579|0.943579	0.18281|0.18281	.|.	.|.	ENSG00000196597|ENSG00000196597	ENST00000289032|ENST00000481138;ENST00000535338	.|T;T	.|0.14640	.|2.49;2.49	3.52|3.52	1.14|1.14	0.20703|0.20703	.|Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);	.|.	.|.	.|.	.|.	T|T	0.05914|0.05914	0.0154|0.0154	N|N	0.04880|0.04880	-0.145|-0.145	0.09310|0.09310	N|N	1|1	.|B	.|0.02656	.|0.0	.|B	.|0.04013	.|0.001	T|T	0.35001|0.35001	-0.9806|-0.9806	5|9	.|0.66056	.|D	.|0.02	.|.	3.2957|3.2957	0.06965|0.06965	0.0:0.227:0.2189:0.5541|0.0:0.227:0.2189:0.5541	.|.	.|342	.|Q6ZMW2	.|ZN782_HUMAN	L|S	330|342;210	.|ENSP00000419397:P342S;ENSP00000440624:P210S	.|ENSP00000419397:P342S	P|P	-|-	2|1	0|0	ZNF782|ZNF782	98621102|98621102	0.000000|0.000000	0.05858|0.05858	0.018000|0.018000	0.16275|0.16275	0.081000|0.081000	0.17604|0.17604	-0.728000|-0.728000	0.04925|0.04925	0.247000|0.247000	0.21414|0.21414	-0.285000|-0.285000	0.09966|0.09966	CCC|CCA		0.408	ZNF782-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356810.1	NM_001001662		53	96	0	0	0	1	0	53	96					A	99581281	G	A	99581281	3	1	435	1	0	0	0	0	1	0	0	0	18152	1232	43	3	1079	3	ZNF782	9	99581281	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	59894	99581281	41632150	4356	25281											
KIAA1529	100499483	broad.mit.edu	37	chr9	100126320	100126320	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctccagaccacccacccacCtttgtcccacagcttcacac	9	7	3	22	0	1	1	1	0	0	1	3	1	3	1	7	0	1	1	7	0	0	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:100126320C>A	ENST00000357054.1	+	41	4792	c.3857C>A	c.(3856-3858)cCt>cAt	p.P1286H	CCDC180_ENST00000375202.2_Intron|CCDC180_ENST00000529487.1_Intron|RP11-23J9.4_ENST00000534123.1_RNA|MIR1302-8_ENST00000408342.1_RNA|CCDC180_ENST00000395220.1_3'UTR			Q9P1Z9	CC180_HUMAN	coiled-coil domain containing 180	1286						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)											ACCCACCCACCTTTGTCCCAC	0.617																																						ENST00000357054.1																			0											c.(3856-3858)cCt>cAt		coiled-coil domain containing 180							90	74	80					9																	100126320		2203	4300	6503	SO:0001583	missense	100499483							g.chr9:100126320C>A	AK123391	CCDS35077.1, CCDS35077.2	9q22.33	2013-03-08	2013-03-08	2013-03-08		ENSG00000197816			29303	protein-coding gene	gene with protein product	"Behcet's Disease Associated Gene 1"		"KIAA1529", "chromosome 9 open reading frame 174"	KIAA1529, C9orf174		10819331	Standard	NM_020893		Approved	DKFZp434I2420, BDAG1	uc004axg.2	Q9P1Z9	OTTHUMG00000167001	ENST00000357054.1:c.3857C>A	9.37:g.100126320C>A	ENSP00000349562:p.Pro1286His					RP11-23J9.4_ENST00000534123.1_RNA|CCDC180_ENST00000395220.1_3'UTR|CCDC180_ENST00000529487.1_Intron|CCDC180_ENST00000375202.2_Intron	p.P1286H							41	4792	+								Q2KHR6|Q5VV25|Q68DP5|Q69YV9|Q6AHY0	Missense_Mutation	SNP	ENST00000357054.1	37	c.3857C>A		.	.	.	.	.	.	.	.	.	.	C	16.61	3.170779	0.57584	.	.	ENSG00000197816	ENST00000357054	T	0.08370	3.1	3.97	2.13	0.27403	.	.	.	.	.	T	0.13200	0.0320	.	.	.	0.09310	N	0.999991	P	0.52842	0.956	P	0.54759	0.76	T	0.15178	-1.0446	8	0.36615	T	0.2	.	6.1268	0.20184	0.0:0.7714:0.0:0.2286	.	1286	Q9P1Z9	CI174_HUMAN	H	1286	ENSP00000349562:P1286H	ENSP00000349562:P1286H	P	+	2	0	C9orf174	99166141	0.130000	0.22417	0.163000	0.22734	0.300000	0.27592	0.245000	0.18142	0.642000	0.30620	0.655000	0.94253	CCT		0.617	CCDC180-201	KNOWN	basic	protein_coding	protein_coding		NM_020893		11	18	1	0	6.40141e-05	1	6.5734e-05	11	18					A	100126320	C	A	100126320	3	1	435	1	0	0	0	0	1	0	0	0	8240	681	24	5	3975	5	KIAA1529	9	100126320	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	545039	100126320	41087111	4357	25282											
KIAA1529	100499483	broad.mit.edu	37	chr9	100137804	100137804	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcttctccagccaacatcatCgatttccaccaccaaaacca	13	9	2	17	1	3	0	1	0	2	0	6	1	4	0	6	0	3	0	6	0	3	2	rs566316997		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:100137804C>T	ENST00000357054.1	+	48	5677	c.4742C>T	c.(4741-4743)tCg>tTg	p.S1581L	CCDC180_ENST00000375202.2_Missense_Mutation_p.S1636L|CCDC180_ENST00000529487.1_Missense_Mutation_p.S1636L|RP11-23J9.4_ENST00000534123.1_RNA|CCDC180_ENST00000395220.1_3'UTR			Q9P1Z9	CC180_HUMAN	coiled-coil domain containing 180	1581						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)											CCAACATCATCGATTTCCACC	0.547													C|||	1	0.000199681	8e-04	0	5008	,	,		18360	0		0	False		,,,				2504	0					ENST00000375202.2																			0											c.(4906-4908)tCg>tTg		coiled-coil domain containing 180							162	129	140					9																	100137804		2203	4300	6503	SO:0001583	missense	100499483							g.chr9:100137804C>T	AK123391	CCDS35077.1, CCDS35077.2	9q22.33	2013-03-08	2013-03-08	2013-03-08		ENSG00000197816			29303	protein-coding gene	gene with protein product	"Behcet's Disease Associated Gene 1"		"KIAA1529", "chromosome 9 open reading frame 174"	KIAA1529, C9orf174		10819331	Standard	NM_020893		Approved	DKFZp434I2420, BDAG1	uc004axg.2	Q9P1Z9	OTTHUMG00000167001	ENST00000357054.1:c.4742C>T	9.37:g.100137804C>T	ENSP00000349562:p.Ser1581Leu					RP11-23J9.4_ENST00000534123.1_RNA|CCDC180_ENST00000395220.1_3'UTR|CCDC180_ENST00000529487.1_Missense_Mutation_p.S1636L|CCDC180_ENST00000357054.1_Missense_Mutation_p.S1581L	p.S1636L							50	6259	+								Q2KHR6|Q5VV25|Q68DP5|Q69YV9|Q6AHY0	Missense_Mutation	SNP	ENST00000357054.1	37	c.4907C>T		.	.	.	.	.	.	.	.	.	.	C	12.60	1.986043	0.35036	.	.	ENSG00000197816	ENST00000357054;ENST00000375202;ENST00000529487	T;T;T	0.10960	2.82;2.82;2.82	5.58	3.71	0.42584	.	0.558411	0.18851	N	0.129409	T	0.27098	0.0664	M	0.66939	2.045	0.09310	N	0.999993	D;D	0.89917	0.992;1.0	P;D	0.71870	0.738;0.975	T	0.03463	-1.1034	10	0.51188	T	0.08	-3.7231	9.4455	0.38695	0.163:0.6804:0.1567:0.0	.	1775;1581	B7ZMG3;Q9P1Z9	.;CI174_HUMAN	L	1581;1636;1636	ENSP00000349562:S1581L;ENSP00000364348:S1636L;ENSP00000434727:S1636L	ENSP00000349562:S1581L	S	+	2	0	C9orf174	99177625	0.005000	0.15991	0.001000	0.08648	0.000000	0.00434	1.773000	0.38563	0.811000	0.34303	-0.181000	0.13052	TCG		0.547	CCDC180-201	KNOWN	basic	protein_coding	protein_coding		NM_020893		20	40	0	0	0	1	0	20	40					T	100137804	C	T	100137804	3	4	435	1	0	0	0	0	1	0	0	0	8240	893	31	2	4888	2	KIAA1529	9	100137804	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	11484	100137804	41075627	4358	25283											
TDRD7	23424	broad.mit.edu	37	chr9	100235780	100235780	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttgtctgttataggttgacGccatgtacacaaatgtcaaa	12	14	8	7	1	2	1	1	1	1	0	2	1	2	1	1	1	1	3	1	1	5	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:100235780G>A	ENST00000355295.4	+	11	2246	c.1951G>A	c.(1951-1953)Gcc>Acc	p.A651T	TDRD7_ENST00000422139.2_Missense_Mutation_p.A577T|TDRD7_ENST00000540902.1_5'UTR	NM_014290.2	NP_055105.2	Q8NHU6	TDRD7_HUMAN	tudor domain containing 7	651					germ cell development (GO:0007281)|lens fiber cell differentiation (GO:0070306)|lens morphogenesis in camera-type eye (GO:0002089)|posttranscriptional regulation of gene expression (GO:0010608)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|mitochondrial matrix (GO:0005759)|P granule (GO:0043186)|ribonucleoprotein granule (GO:0035770)	mRNA binding (GO:0003729)			endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Acute lymphoblastic leukemia(62;0.158)				ATAGGTTGACGCCATGTACAC	0.438																																						ENST00000355295.4																			0				endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(1951-1953)Gcc>Acc		tudor domain containing 7							181	166	171					9																	100235780		2203	4299	6502	SO:0001583	missense	23424				lens fiber cell differentiation|lens morphogenesis in camera-type eye|posttranscriptional regulation of gene expression|spermatogenesis	chromatoid body	mRNA binding	g.chr9:100235780G>A	AB025254	CCDS6725.1	9q22.33	2013-01-23			ENSG00000196116	ENSG00000196116		"Tudor domain containing"	30831	protein-coding gene	gene with protein product		611258				21436445	Standard	NM_014290		Approved	PCTAIRE2BP	uc004axj.3	Q8NHU6	OTTHUMG00000020326	ENST00000355295.4:c.1951G>A	9.37:g.100235780G>A	ENSP00000347444:p.Ala651Thr					TDRD7_ENST00000422139.2_Missense_Mutation_p.A577T|TDRD7_ENST00000540902.1_5'UTR	p.A651T	NM_014290.2	NP_055105.2	Q8NHU6	TDRD7_HUMAN			11	2246	+		Acute lymphoblastic leukemia(62;0.158)	651					A6NCI6|B2RBX3|B4DG99|B4DXF7|E7EQD4|Q5VV27|Q96JT1|Q9UFF0|Q9Y2M3	Missense_Mutation	SNP	ENST00000355295.4	37	c.1951G>A	CCDS6725.1	.	.	.	.	.	.	.	.	.	.	G	14.52	2.559127	0.45590	.	.	ENSG00000196116	ENST00000355295;ENST00000422139	T;T	0.10005	2.92;2.92	4.23	4.23	0.50019	Maternal tudor protein (1);	0.200950	0.53938	D	0.000059	T	0.03915	0.0110	N	0.12182	0.205	0.80722	D	1	P	0.48834	0.916	B	0.35312	0.2	T	0.46005	-0.9222	10	0.17369	T	0.5	-17.031	5.4955	0.16799	0.099:0.0:0.701:0.2	.	651	Q8NHU6	TDRD7_HUMAN	T	651;577	ENSP00000347444:A651T;ENSP00000413608:A577T	ENSP00000347444:A651T	A	+	1	0	TDRD7	99275601	0.980000	0.34600	0.998000	0.56505	0.752000	0.42762	1.510000	0.35790	2.653000	0.90120	0.585000	0.79938	GCC		0.438	TDRD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053322.1	NM_014290		27	63	0	0	0	1	0	27	63					A	100235780	G	A	100235780	3	1	435	1	0	0	0	0	1	0	0	0	15732	1087	38	1	1989	1	TDRD7	9	100235780	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	97976	100235780	40977651	4359	25284											
HEMGN	55363	broad.mit.edu	37	chr9	100693372	100693372	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagtttttttctctataggtGccagtgctttctccactatt	6	19	6	10	0	2	0	0	0	2	0	4	0	2	0	2	1	2	2	2	1	3	8			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:100693372G>A	ENST00000259456.3	-	4	448	c.305C>T	c.(304-306)gCa>gTa	p.A102V		NM_018437.3|NM_197978.2	NP_060907.2|NP_932095.1	Q9BXL5	HEMGN_HUMAN	hemogen	102					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)	nucleus (GO:0005634)				NS(1)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|skin(2)|urinary_tract(1)	27		Acute lymphoblastic leukemia(62;0.0559)				CTCTATAGGTGCCAGTGCTTT	0.443																																						ENST00000259456.3																			0				NS(1)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|skin(2)|urinary_tract(1)	27						c.(304-306)gCa>gTa		hemogen							146	134	138					9																	100693372		2203	4300	6503	SO:0001583	missense	55363				cell differentiation|multicellular organismal development			g.chr9:100693372G>A	AF228713	CCDS6731.1	9q22.33	2014-01-21			ENSG00000136929	ENSG00000136929			17509	protein-coding gene	gene with protein product		610715					Standard	NM_018437		Approved	EDAG, CT155, NDR	uc004axy.4	Q9BXL5	OTTHUMG00000020336	ENST00000259456.3:c.305C>T	9.37:g.100693372G>A	ENSP00000259456:p.Ala102Val						p.A102V	NM_018437.3|NM_197978.2	NP_060907.2|NP_932095.1	Q9BXL5	HEMGN_HUMAN			4	448	-		Acute lymphoblastic leukemia(62;0.0559)	102					Q6XAR3|Q86XY5|Q9NPC0	Missense_Mutation	SNP	ENST00000259456.3	37	c.305C>T	CCDS6731.1	.	.	.	.	.	.	.	.	.	.	G	0.965	-0.701936	0.03255	.	.	ENSG00000136929	ENST00000375112;ENST00000259456	.	.	.	4.73	-0.55	0.11825	.	0.956669	0.08664	N	0.911903	T	0.24005	0.0581	L	0.37630	1.12	0.09310	N	1	B	0.09022	0.002	B	0.11329	0.006	T	0.30592	-0.9973	9	0.02654	T	1	-1.9582	3.5737	0.07926	0.3853:0.0:0.4446:0.1701	.	102	Q9BXL5	HEMGN_HUMAN	V	102	.	ENSP00000259456:A102V	A	-	2	0	HEMGN	99733193	0.000000	0.05858	0.000000	0.03702	0.030000	0.12068	-0.652000	0.05366	-0.161000	0.10983	0.591000	0.81541	GCA		0.443	HEMGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053344.2	NM_197978		25	34	0	0	0	1	0	25	34					A	100693372	G	A	100693372	3	1	435	1	0	0	0	0	1	0	0	0	7050	1319	46	3	1157	3	HEMGN	9	100693372	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	457592	100693372	40520059	4360	25285											
NANS	54187	broad.mit.edu	37	chr9	100823218	100823218	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gttcagccatgaccagtacaGggagctgcagaggtacgccg	10	6	14	11	2	1	2	1	1	0	1	1	3	1	3	3	2	5	5	3	2	2	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:100823218G>T	ENST00000210444.5	+	2	357	c.287G>T	c.(286-288)aGg>aTg	p.R96M		NM_018946.3	NP_061819.2	Q9NR45	SIAS_HUMAN	N-acetylneuraminic acid synthase	96					lipopolysaccharide biosynthetic process (GO:0009103)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	N-acetylneuraminate synthase activity (GO:0050462)|N-acylneuraminate cytidylyltransferase activity (GO:0008781)|N-acylneuraminate-9-phosphate synthase activity (GO:0047444)			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(1)	11		Acute lymphoblastic leukemia(62;0.0559)				GACCAGTACAGGGAGCTGCAG	0.547																																						ENST00000210444.5																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(1)	11						c.(286-288)aGg>aTg		N-acetylneuraminic acid synthase							208	191	196					9																	100823218		2203	4300	6503	SO:0001583	missense	54187				lipopolysaccharide biosynthetic process	cytoplasm	N-acetylneuraminate synthase activity|N-acylneuraminate cytidylyltransferase activity|N-acylneuraminate-9-phosphate synthase activity	g.chr9:100823218G>T	AF161387	CCDS6733.1	9p24.1-p23	2008-07-31	2008-07-31		ENSG00000095380	ENSG00000095380			19237	protein-coding gene	gene with protein product	"sialic acid synthase"	605202				10749855	Standard	NM_018946		Approved	SAS	uc004ayc.3	Q9NR45	OTTHUMG00000020341	ENST00000210444.5:c.287G>T	9.37:g.100823218G>T	ENSP00000210444:p.Arg96Met						p.R96M	NM_018946.3	NP_061819.2	Q9NR45	SIAS_HUMAN			2	357	+		Acute lymphoblastic leukemia(62;0.0559)	96					B2RE98|Q8WUV9|Q9BWS6|Q9NVD4	Missense_Mutation	SNP	ENST00000210444.5	37	c.287G>T	CCDS6733.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.026670	0.75390	.	.	ENSG00000095380	ENST00000210444	T	0.45276	0.9	5.73	-1.94	0.07571	Aldolase-type TIM barrel (1);N-acetylneuraminic acid synthase, N-terminal (1);	0.360832	0.33272	N	0.005086	T	0.49779	0.1577	M	0.71581	2.175	0.32219	N	0.575556	P	0.45531	0.86	P	0.53062	0.717	T	0.58983	-0.7539	10	0.34782	T	0.22	-2.2476	12.3854	0.55328	0.3059:0.0:0.6941:0.0	.	96	Q9NR45	SIAS_HUMAN	M	96	ENSP00000210444:R96M	ENSP00000210444:R96M	R	+	2	0	NANS	99863039	0.245000	0.23899	0.392000	0.26245	0.971000	0.66376	0.088000	0.14979	-0.526000	0.06383	0.655000	0.94253	AGG		0.547	NANS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053359.1	NM_018946		25	43	1	0	1.37878e-21	1	1.53209e-21	25	43					T	100823218	G	T	100823218	3	4	435	1	0	0	0	0	1	0	0	0	10155	1000	35	5	293	5	NANS	9	100823218	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	129846	100823218	40390213	4361	25286											
CORO2A	7464	broad.mit.edu	37	chr9	100897161	100897161	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaccaggcctactctgcgcGcgtggcccacgagttccttc	5	8	10	18	4	1	0	0	0	1	0	3	1	2	0	5	2	2	1	5	2	1	3	rs368954246	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:100897161G>A	ENST00000343933.5	-	4	652	c.395C>T	c.(394-396)gCg>gTg	p.A132V	CORO2A_ENST00000375077.4_Missense_Mutation_p.A132V	NM_003389.3	NP_003380.3	Q92828	COR2A_HUMAN	coronin, actin binding protein, 2A	132					actin cytoskeleton organization (GO:0030036)|intracellular signal transduction (GO:0035556)	actin cytoskeleton (GO:0015629)|transcriptional repressor complex (GO:0017053)	actin filament binding (GO:0051015)			endometrium(2)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|skin(4)|urinary_tract(1)	26		Acute lymphoblastic leukemia(62;0.0559)				TACTCTGCGCGCGTGGCCCAC	0.602													G|||	5	0.000998403	0	0	5008	,	,		19411	0		0	False		,,,				2504	0.0051					ENST00000343933.5																			0				endometrium(2)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|skin(4)|urinary_tract(1)	26						c.(394-396)gCg>gTg		coronin, actin binding protein, 2A		G	VAL/ALA,VAL/ALA	0,4406		0,0,2203	76	66	69		395,395	3.5	0	9		69	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	CORO2A	NM_052820.3,NM_003389.3	64,64	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign,benign	132/526,132/526	100897161	1,13005	2203	4300	6503	SO:0001583	missense	7464				actin cytoskeleton organization|intracellular signal transduction	actin cytoskeleton|transcriptional repressor complex	actin filament binding	g.chr9:100897161G>A	U57057	CCDS6735.1	9q22.3	2013-01-10	2001-11-28		ENSG00000106789	ENSG00000106789		"Coronins", "WD repeat domain containing"	2255	protein-coding gene	gene with protein product	"coronin 2A", "coronin-like protein B", "WD protein IR10", "WD-repeat protein 2"	602159	"coronin, actin-binding protein, 2A"			8985118	Standard	NM_052820		Approved	IR10, WDR2	uc004aym.3	Q92828	OTTHUMG00000020340	ENST00000343933.5:c.395C>T	9.37:g.100897161G>A	ENSP00000343746:p.Ala132Val					CORO2A_ENST00000375077.4_Missense_Mutation_p.A132V	p.A132V	NM_003389.3	NP_003380.3	Q92828	COR2A_HUMAN			4	652	-		Acute lymphoblastic leukemia(62;0.0559)	132					Q5TBR5|Q92829|Q9BWS5	Missense_Mutation	SNP	ENST00000343933.5	37	c.395C>T	CCDS6735.1	.	.	.	.	.	.	.	.	.	.	G	9.857	1.195269	0.22037	0.0	1.16E-4	ENSG00000106789	ENST00000343933;ENST00000375077	T;T	0.60171	0.21;0.21	5.37	3.47	0.39725	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.680005	0.15582	N	0.254886	T	0.43255	0.1239	L	0.28115	0.83	0.09310	N	1	B	0.06786	0.001	B	0.10450	0.005	T	0.32824	-0.9892	10	0.41790	T	0.15	-2.5501	10.4382	0.44448	0.0749:0.1338:0.7913:0.0	.	132	Q92828	COR2A_HUMAN	V	132	ENSP00000343746:A132V;ENSP00000364218:A132V	ENSP00000343746:A132V	A	-	2	0	CORO2A	99936982	0.000000	0.05858	0.003000	0.11579	0.110000	0.19582	0.460000	0.21924	1.513000	0.48852	-0.143000	0.13931	GCG		0.602	CORO2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053357.1	NM_003389		7	7	0	0	0	1	0	7	7					A	100897161	G	A	100897161	3	1	435	1	0	0	0	0	1	0	0	0	3756	1087	38	1	1218	1	CORO2A	9	100897161	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	73943	100897161	40316270	4362	25287											
TBC1D2	55357	broad.mit.edu	37	chr9	101006409	101006409	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccagctctgcctcttcttGccctgggaacaaagaaaagg	10	9	9	13	0	3	1	0	0	3	1	4	2	4	2	3	2	4	1	3	2	4	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:101006409G>A	ENST00000375064.1	-	3	552	c.514C>T	c.(514-516)Caa>Taa	p.Q172*	TBC1D2_ENST00000342112.5_5'UTR|TBC1D2_ENST00000375066.5_Nonsense_Mutation_p.Q172*	NM_001267571.1	NP_001254500.1	Q9BYX2	TBD2A_HUMAN	TBC1 domain family, member 2	172					positive regulation of Rab GTPase activity (GO:0032851)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)	cadherin binding (GO:0045296)|Rab GTPase activator activity (GO:0005097)			breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;2.55e-37)		GCCTCTTCTTGCCCTGGGAAC	0.582																																						ENST00000375066.5																			0				breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24						c.(514-516)Caa>Taa		TBC1 domain family, member 2							32	29	30					9																	101006409		2203	4300	6503	SO:0001587	stop_gained	55357					cell junction|cytoplasmic membrane-bounded vesicle|nucleus	Rab GTPase activator activity	g.chr9:101006409G>A	AY026527	CCDS35080.1, CCDS59137.1, CCDS75865.1	9q22.32	2011-11-30			ENSG00000095383	ENSG00000095383			18026	protein-coding gene	gene with protein product	"prostate antigen recognized and identified by SEREX"	609871					Standard	NM_018421		Approved	PARIS1, TBC1D2A, Armus	uc011lvb.2	Q9BYX2	OTTHUMG00000020343	ENST00000375064.1:c.514C>T	9.37:g.101006409G>A	ENSP00000364205:p.Gln172*					TBC1D2_ENST00000375064.1_Nonsense_Mutation_p.Q172*|TBC1D2_ENST00000342112.5_5'UTR	p.Q172*	NM_018421.3	NP_060891.3	Q9BYX2	TBD2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(323;2.55e-37)	3	605	-		Myeloproliferative disorder(762;0.0255)	172					B3KWD1|B4DQ05|B9A6J7|Q59EU0|Q5TBQ5|Q6IPC7|Q7L1K8|Q8WYT1|Q9H6A2|Q9NSH4	Nonsense_Mutation	SNP	ENST00000375064.1	37	c.514C>T		.	.	.	.	.	.	.	.	.	.	G	32	5.190949	0.94923	.	.	ENSG00000095383	ENST00000375064;ENST00000375066	.	.	.	4.16	4.16	0.48862	.	0.557105	0.15806	N	0.243706	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.09084	T	0.74	.	11.8547	0.52431	0.0:0.0:1.0:0.0	.	.	.	.	X	172	.	ENSP00000364205:Q172X	Q	-	1	0	TBC1D2	100046230	0.998000	0.40836	1.000000	0.80357	0.894000	0.52154	2.003000	0.40844	2.163000	0.67991	0.655000	0.94253	CAA		0.582	TBC1D2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000053366.1	NM_018421		12	11	0	0	0	1	0	12	11					A	101006409	G	A	101006409	4	1	435	1	0	0	0	0	0	1	0	0	15605	1328	46	3	2283	3	TBC1D2	9	101006409	Nonsense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	109248	101006409	40207022	4363	25288											
ANKS6	203286	broad.mit.edu	37	chr9	101533322	101533322	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggaaatttaacaggcctgaCgggtgtctacaagaataagg	14	9	12	6	1	1	2	0	1	1	1	1	3	1	3	1	4	2	0	1	4	6	4	rs138782444	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:101533322C>T	ENST00000353234.4	-	10	1875	c.1828G>A	c.(1828-1830)Gtc>Atc	p.V610I	ANKS6_ENST00000375019.2_Missense_Mutation_p.V309I|ANKS6_ENST00000540940.1_Missense_Mutation_p.V415I|ANKS6_ENST00000375018.1_Missense_Mutation_p.V610I			Q68DC2	ANKS6_HUMAN	ankyrin repeat and sterile alpha motif domain containing 6	610						cilium (GO:0005929)|cytoplasm (GO:0005737)				endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	21		Acute lymphoblastic leukemia(62;0.0527)				ACAGGCCTGACGGGTGTCTAC	0.577													C|||	3	0.000599042	0.0023	0	5008	,	,		17813	0		0	False		,,,				2504	0					ENST00000353234.4																			0				endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	21						c.(1828-1830)Gtc>Atc		ankyrin repeat and sterile alpha motif domain containing 6		C	ILE/VAL	11,3845		0,11,1917	37	42	41		1828	1.3	0	9	dbSNP_134	41	4,8256		0,4,4126	yes	missense	ANKS6	NM_173551.3	29	0,15,6043	TT,TC,CC		0.0484,0.2853,0.1238	benign	610/872	101533322	15,12101	1928	4130	6058	SO:0001583	missense	203286							g.chr9:101533322C>T	AK094247	CCDS43856.1	9q31.1	2013-09-10	2006-02-17	2006-02-17	ENSG00000165138	ENSG00000165138		"Sterile alpha motif (SAM) domain containing", "Ankyrin repeat domain containing"	26724	protein-coding gene	gene with protein product		615370	"sterile alpha motif domain containing 6", "ankyrin repeat domain 14"	SAMD6, ANKRD14		23793029	Standard	XM_005251793		Approved	FLJ36928, NPHP16	uc004ayu.3	Q68DC2	OTTHUMG00000020347	ENST00000353234.4:c.1828G>A	9.37:g.101533322C>T	ENSP00000297837:p.Val610Ile					ANKS6_ENST00000375018.1_Missense_Mutation_p.V610I|ANKS6_ENST00000540940.1_Missense_Mutation_p.V415I|ANKS6_ENST00000375019.2_Missense_Mutation_p.V309I	p.V610I			Q68DC2	ANKS6_HUMAN			10	1875	-		Acute lymphoblastic leukemia(62;0.0527)	610					A0SE62|Q5VSL0|Q5VSL2|Q5VSL3|Q5VSL4|Q68DB8|Q6P2R2|Q8N9L6|Q96D62	Missense_Mutation	SNP	ENST00000353234.4	37	c.1828G>A	CCDS43856.1	2|2	9.157509157509158E-4|9.157509157509158E-4	2|2	0.0040650406504065045|0.0040650406504065045	0|0	0.0|0.0	0|0	0.0|0.0	0|0	0.0|0.0	C|C	7.893|7.893	0.732677|0.732677	0.15507|0.15507	0.002853|0.002853	4.84E-4|4.84E-4	ENSG00000165138|ENSG00000165138	ENST00000444472|ENST00000375019;ENST00000375018;ENST00000353234;ENST00000540940	.|T;T;T;T	.|0.69040	.|1.82;-0.36;-0.37;2.08	5.79|5.79	1.28|1.28	0.21552|0.21552	.|.	.|1.133000	.|0.06281	.|N	.|0.697495	T|T	0.45438|0.45438	0.1342|0.1342	N|N	0.08118|0.08118	0|0	0.09310|0.09310	N|N	1|1	.|B;B	.|0.10296	.|0.003;0.002	.|B;B	.|0.04013	.|0.001;0.0	T|T	0.27191|0.27191	-1.0081|-1.0081	5|10	.|0.29301	.|T	.|0.29	-1.301|-1.301	8.0071|8.0071	0.30332|0.30332	0.0:0.5915:0.0:0.4085|0.0:0.5915:0.0:0.4085	.|.	.|610;610	.|Q68DC2-4;Q68DC2	.|.;ANKS6_HUMAN	H|I	78|309;610;610;415	.|ENSP00000364159:V309I;ENSP00000364158:V610I;ENSP00000297837:V610I;ENSP00000442189:V415I	.|ENSP00000297837:V610I	R|V	-|-	2|1	0|0	ANKS6|ANKS6	100573143|100573143	0.005000|0.005000	0.15991|0.15991	0.001000|0.001000	0.08648|0.08648	0.115000|0.115000	0.19883|0.19883	0.074000|0.074000	0.14662|0.14662	0.038000|0.038000	0.15604|0.15604	-0.224000|-0.224000	0.12420|0.12420	CGT|GTC		0.577	ANKS6-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000277053.1	NM_173551		3	15	0	0	0	1	0	3	15					T	101533322	C	T	101533322	3	4	435	1	0	0	0	0	1	0	0	0	692	536	19	1	811	1	ANKS6	9	101533322	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	526913	101533322	39680109	4364	25289											
ANKS6	203286	broad.mit.edu	37	chr9	101540677	101540677	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tgcatcagtttgagctttcgGaaccgattggacattcggtt	8	14	11	8	3	1	1	1	1	0	0	3	4	1	3	1	3	3	4	1	3	1	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:101540677G>A	ENST00000353234.4	-	7	1445	c.1398C>T	c.(1396-1398)ttC>ttT	p.F466F	ANKS6_ENST00000375019.2_Silent_p.F165F|ANKS6_ENST00000540940.1_Silent_p.F271F|ANKS6_ENST00000375018.1_Silent_p.F466F			Q68DC2	ANKS6_HUMAN	ankyrin repeat and sterile alpha motif domain containing 6	466						cilium (GO:0005929)|cytoplasm (GO:0005737)				endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	21		Acute lymphoblastic leukemia(62;0.0527)				TGAGCTTTCGGAACCGATTGG	0.587																																						ENST00000353234.4																			0				endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	21						c.(1396-1398)ttC>ttT		ankyrin repeat and sterile alpha motif domain containing 6							38	46	43					9																	101540677		2094	4219	6313	SO:0001819	synonymous_variant	203286							g.chr9:101540677G>A	AK094247	CCDS43856.1	9q31.1	2013-09-10	2006-02-17	2006-02-17	ENSG00000165138	ENSG00000165138		"Sterile alpha motif (SAM) domain containing", "Ankyrin repeat domain containing"	26724	protein-coding gene	gene with protein product		615370	"sterile alpha motif domain containing 6", "ankyrin repeat domain 14"	SAMD6, ANKRD14		23793029	Standard	XM_005251793		Approved	FLJ36928, NPHP16	uc004ayu.3	Q68DC2	OTTHUMG00000020347	ENST00000353234.4:c.1398C>T	9.37:g.101540677G>A						ANKS6_ENST00000375018.1_Silent_p.F466F|ANKS6_ENST00000540940.1_Silent_p.F271F|ANKS6_ENST00000375019.2_Silent_p.F165F	p.F466F			Q68DC2	ANKS6_HUMAN			7	1445	-		Acute lymphoblastic leukemia(62;0.0527)	466					A0SE62|Q5VSL0|Q5VSL2|Q5VSL3|Q5VSL4|Q68DB8|Q6P2R2|Q8N9L6|Q96D62	Silent	SNP	ENST00000353234.4	37	c.1398C>T	CCDS43856.1																																																																																				0.587	ANKS6-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000277053.1	NM_173551		8	10	0	0	0	1	0	8	10					A	101540677	G	A	101540677	2	1	435	1	0	0	0	0	0	0	0	1	692	1165	41	3		3	ANKS6	9	101540677	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	7355	101540677	39672754	4365	25290											
GALNT12	79695	broad.mit.edu	37	chr9	101597550	101597550	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggtctccaacaatggctggtGggctgtttgctgtgagtaag	7	12	15	7	0	1	1	0	1	1	0	2	1	1	1	1	4	2	5	1	4	3	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:101597550G>T	ENST00000375011.3	+	5	937	c.937G>T	c.(937-939)Ggg>Tgg	p.G313W		NM_024642.4	NP_078918.3	Q8IXK2	GLT12_HUMAN	polypeptide N-acetylgalactosaminyltransferase 12	313	Catalytic subdomain B.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			breast(1)|endometrium(2)|large_intestine(3)|lung(8)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	17		Acute lymphoblastic leukemia(62;0.0559)				AATGGCTGGTGGGCTGTTTGC	0.418																																						ENST00000375011.3																			0				breast(1)|endometrium(2)|large_intestine(3)|lung(8)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	17						c.(937-939)Ggg>Tgg		UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 12 (GalNAc-T12)							142	150	147					9																	101597550		2203	4300	6503	SO:0001583	missense	79695					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr9:101597550G>T	AB078146	CCDS6737.1	9q22.33	2014-03-13	2014-03-13		ENSG00000119514	ENSG00000119514	2.4.1.41	"Glycosyltransferase family 2 domain containing"	19877	protein-coding gene	gene with protein product	"polypeptide GalNAc transferase 12"	610290	"UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 12 (GalNAc-T12)"			12135769	Standard	NM_024642		Approved	GalNAc-T12	uc004ayz.3	Q8IXK2	OTTHUMG00000020348	ENST00000375011.3:c.937G>T	9.37:g.101597550G>T	ENSP00000364150:p.Gly313Trp						p.G313W	NM_024642.4	NP_078918.3	Q8IXK2	GLT12_HUMAN			5	937	+		Acute lymphoblastic leukemia(62;0.0559)	313			Catalytic subdomain B.		Q5TCF7|Q8NG54|Q96CT9|Q9H771	Missense_Mutation	SNP	ENST00000375011.3	37	c.937G>T	CCDS6737.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.295451	0.81025	.	.	ENSG00000119514	ENST00000375011	T	0.62364	0.03	5.43	5.43	0.79202	Glycosyl transferase, family 2 (1);	0.046562	0.85682	D	0.000000	D	0.87585	0.6214	H	0.98276	4.19	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.92039	0.5639	10	0.87932	D	0	.	17.0949	0.86632	0.0:0.0:1.0:0.0	.	313	Q8IXK2	GLT12_HUMAN	W	313	ENSP00000364150:G313W	ENSP00000364150:G313W	G	+	1	0	GALNT12	100637371	1.000000	0.71417	0.989000	0.46669	0.927000	0.56198	9.781000	0.99029	2.722000	0.93159	0.655000	0.94253	GGG		0.418	GALNT12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053382.1	NM_024642		39	80	1	0	4.32679e-17	1	4.75887e-17	39	80					T	101597550	G	T	101597550	3	4	435	1	0	0	0	0	1	0	0	0	6210	1348	47	5	955	5	GALNT12	9	101597550	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	56873	101597550	39615881	4366	25291											
COL15A1	1306	broad.mit.edu	37	chr9	101778332	101778332	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acagctgggggtgaagagtcCggcagccctccccctgatgg	7	6	15	13	1	0	3	0	2	0	1	2	3	2	3	4	4	2	2	4	4	1	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:101778332C>T	ENST00000375001.3	+	11	2001	c.1578C>T	c.(1576-1578)tcC>tcT	p.S526S		NM_001855.3	NP_001846.3	P39059	COFA1_HUMAN	collagen, type XV, alpha 1	526	4 X tandem repeats.|Nonhelical region 1 (NC1).				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|signal transduction (GO:0007165)	collagen type XV trimer (GO:0005582)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	107		Acute lymphoblastic leukemia(62;0.0562)				GTGAAGAGTCCGGCAGCCCTC	0.557																																						ENST00000375001.3																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	107						c.(1576-1578)tcC>tcT		collagen, type XV, alpha 1							55	53	54					9																	101778332		2203	4300	6503	SO:0001819	synonymous_variant	1306				angiogenesis|cell differentiation|signal transduction	collagen type XV|extracellular space|integral to membrane	binding	g.chr9:101778332C>T	L25286	CCDS35081.1	9q21-q22	2013-01-16			ENSG00000204291	ENSG00000204291		"Proteoglycans / Extracellular Matrix : Collagen proteoglycans", "Collagens"	2192	protein-coding gene	gene with protein product	"collagen type XV proteoglycan"	120325				1427836	Standard	NM_001855		Approved		uc004azb.2	P39059	OTTHUMG00000020351	ENST00000375001.3:c.1578C>T	9.37:g.101778332C>T							p.S526S	NM_001855.3	NP_001846.3	P39059	COFA1_HUMAN			11	2001	+		Acute lymphoblastic leukemia(62;0.0562)	526			4 X tandem repeats.|Nonhelical region 1 (NC1).		Q5T6J4|Q9UDC5|Q9Y4W4	Silent	SNP	ENST00000375001.3	37	c.1578C>T	CCDS35081.1																																																																																				0.557	COL15A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053386.3	NM_001855		4	12	0	0	0	1	0	4	12					T	101778332	C	T	101778332	2	4	435	1	0	0	0	0	0	0	0	1	3672	639	23	2		2	COL15A1	9	101778332	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	180782	101778332	39435099	4367	25292											
NR4A3	8013	broad.mit.edu	37	chr9	102590329	102590329	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ctctgtccctgcagatatgcCctgcgtccaagcccaatata	9	10	7	15	1	1	1	0	0	1	1	3	1	3	1	4	0	4	1	4	0	5	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:102590329C>T	ENST00000395097.2	+	3	734	c.5C>T	c.(4-6)cCc>cTc	p.P2L	NR4A3_ENST00000330847.1_Missense_Mutation_p.P13L|NR4A3_ENST00000338488.4_Missense_Mutation_p.P2L	NM_006981.3|NM_173200.2	NP_008912.2|NP_775292.1	Q92570	NR4A3_HUMAN	nuclear receptor subfamily 4, group A, member 3	2					gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|steroid hormone receptor activity (GO:0003707)|thyroid hormone receptor activity (GO:0004887)|zinc ion binding (GO:0008270)		TCF12/NR4A3(2)|TAF15/NR4A3(33)|EWSR1/NR4A3(146)|TFG/NR4A3(2)				Acute lymphoblastic leukemia(62;0.0559)|all_hematologic(171;0.189)				GCAGATATGCCCTGCGTCCAA	0.512			T	EWSR1	extraskeletal myxoid chondrosarcoma																																	ENST00000330847.1				Dom	yes		9	9q22	8013	T	"nuclear receptor subfamily 4, group A, member 3 (NOR1)"			M	EWSR1		extraskeletal myxoid chondrosarcoma	TCF12/NR4A3(2)|TAF15/NR4A3(33)|EWSR1/NR4A3(146)|TFG/NR4A3(2)	0											c.(37-39)cCc>cTc		nuclear receptor subfamily 4, group A, member 3							100	84	90					9																	102590329		2203	4300	6503	SO:0001583	missense	0				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor		steroid hormone receptor activity|thyroid hormone receptor activity|zinc ion binding	g.chr9:102590329C>T	U12767	CCDS6742.1, CCDS6743.1, CCDS6744.1	9q22	2013-01-16			ENSG00000119508	ENSG00000119508		"Nuclear hormone receptors"	7982	protein-coding gene	gene with protein product		600542				8614405	Standard	NM_006981		Approved	CSMF, CHN, NOR1, MINOR	uc004baf.1	Q92570	OTTHUMG00000021030	ENST00000395097.2:c.5C>T	9.37:g.102590329C>T	ENSP00000378531:p.Pro2Leu					NR4A3_ENST00000395097.2_Missense_Mutation_p.P2L|NR4A3_ENST00000338488.4_Missense_Mutation_p.P2L	p.P13L			Q92570	NR4A3_HUMAN			2	82	+		Acute lymphoblastic leukemia(62;0.0559)|all_hematologic(171;0.189)	2					A2A3I7|Q12935|Q14979|Q16420|Q4VXA8|Q4VXA9|Q9UEK2|Q9UEK3	Missense_Mutation	SNP	ENST00000395097.2	37	c.38C>T	CCDS6743.1	.	.	.	.	.	.	.	.	.	.	C	28.4	4.914995	0.92178	.	.	ENSG00000119508	ENST00000395097;ENST00000338488;ENST00000330847	D;D;D	0.98876	-4.91;-5.1;-5.2	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	D	0.99099	0.9690	M	0.74258	2.255	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.997;0.999	D	0.99876	1.1104	10	0.87932	D	0	.	19.9944	0.97379	0.0:1.0:0.0:0.0	.	13;2;2	Q92570-3;Q92570;Q92570-2	.;NR4A3_HUMAN;.	L	2;2;13	ENSP00000378531:P2L;ENSP00000340301:P2L;ENSP00000333122:P13L	ENSP00000333122:P13L	P	+	2	0	NR4A3	101630150	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.731000	0.84895	2.720000	0.93068	0.557000	0.71058	CCC		0.512	NR4A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055482.1			19	34	0	0	0	1	0	19	34					T	102590329	C	T	102590329	3	4	435	1	0	0	0	0	1	0	0	0	10634	623	22	3	44	3	NR4A3	9	102590329	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	811997	102590329	38623102	4368	25293											
NR4A3	8013	broad.mit.edu	37	chr9	102626117	102626117	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgtctccaccttccatcattGacaagctcttcctggacacc	8	12	5	16	0	3	1	1	1	2	0	6	2	5	2	5	1	1	1	5	1	1	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:102626117G>A	ENST00000395097.2	+	8	2578	c.1849G>A	c.(1849-1851)Gac>Aac	p.D617N	NR4A3_ENST00000330847.1_Missense_Mutation_p.D628N	NM_006981.3|NM_173200.2	NP_008912.2|NP_775292.1	Q92570	NR4A3_HUMAN	nuclear receptor subfamily 4, group A, member 3	617					gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|steroid hormone receptor activity (GO:0003707)|thyroid hormone receptor activity (GO:0004887)|zinc ion binding (GO:0008270)		TCF12/NR4A3(2)|TAF15/NR4A3(33)|EWSR1/NR4A3(146)|TFG/NR4A3(2)				Acute lymphoblastic leukemia(62;0.0559)|all_hematologic(171;0.189)				TTCCATCATTGACAAGCTCTT	0.557			T	EWSR1	extraskeletal myxoid chondrosarcoma																																	ENST00000330847.1				Dom	yes		9	9q22	8013	T	"nuclear receptor subfamily 4, group A, member 3 (NOR1)"			M	EWSR1		extraskeletal myxoid chondrosarcoma	TCF12/NR4A3(2)|TAF15/NR4A3(33)|EWSR1/NR4A3(146)|TFG/NR4A3(2)	0											c.(1882-1884)Gac>Aac		nuclear receptor subfamily 4, group A, member 3							83	73	76					9																	102626117		2203	4300	6503	SO:0001583	missense	0				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor		steroid hormone receptor activity|thyroid hormone receptor activity|zinc ion binding	g.chr9:102626117G>A	U12767	CCDS6742.1, CCDS6743.1, CCDS6744.1	9q22	2013-01-16			ENSG00000119508	ENSG00000119508		"Nuclear hormone receptors"	7982	protein-coding gene	gene with protein product		600542				8614405	Standard	NM_006981		Approved	CSMF, CHN, NOR1, MINOR	uc004baf.1	Q92570	OTTHUMG00000021030	ENST00000395097.2:c.1849G>A	9.37:g.102626117G>A	ENSP00000378531:p.Asp617Asn					NR4A3_ENST00000395097.2_Missense_Mutation_p.D617N	p.D628N			Q92570	NR4A3_HUMAN			7	1926	+		Acute lymphoblastic leukemia(62;0.0559)|all_hematologic(171;0.189)	617					A2A3I7|Q12935|Q14979|Q16420|Q4VXA8|Q4VXA9|Q9UEK2|Q9UEK3	Missense_Mutation	SNP	ENST00000395097.2	37	c.1882G>A	CCDS6743.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.171964	0.78452	.	.	ENSG00000119508	ENST00000395097;ENST00000330847	T;T	0.50813	0.73;0.73	5.92	5.92	0.95590	Nuclear hormone receptor, ligand-binding (2);	0.046901	0.85682	D	0.000000	T	0.47820	0.1466	L	0.48642	1.525	0.80722	D	1	P;P	0.39535	0.518;0.677	B;B	0.38458	0.162;0.274	T	0.50083	-0.8869	10	0.72032	D	0.01	.	20.3325	0.98724	0.0:0.0:1.0:0.0	.	628;617	Q92570-3;Q92570	.;NR4A3_HUMAN	N	617;628	ENSP00000378531:D617N;ENSP00000333122:D628N	ENSP00000333122:D628N	D	+	1	0	NR4A3	101665938	1.000000	0.71417	0.994000	0.49952	0.712000	0.41017	9.869000	0.99810	2.805000	0.96524	0.655000	0.94253	GAC		0.557	NR4A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055482.1			20	24	0	0	0	1	0	20	24					A	102626117	G	A	102626117	3	1	435	1	0	0	0	0	1	0	0	0	10634	1290	45	3	1986	3	NR4A3	9	102626117	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	35788	102626117	38587314	4369	25294											
C9orf125	84302	broad.mit.edu	37	chr9	104238426	104238426	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagggaaggactcagccgccGcagttccaggaaatagtgcc	11	5	13	12	2	1	0	1	0	0	0	2	3	2	3	4	3	2	2	4	3	3	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:104238426G>A	ENST00000374851.1	-	4	2096	c.949C>T	c.(949-951)Cgg>Tgg	p.R317W	RP11-490D19.6_ENST00000450109.1_RNA|TMEM246_ENST00000374848.3_Missense_Mutation_p.R317W|RP11-490D19.6_ENST00000424154.1_RNA|TMEM246_ENST00000374847.1_Missense_Mutation_p.R317W|RP11-490D19.6_ENST00000425734.1_RNA|RP11-490D19.6_ENST00000431507.1_RNA			Q9BRR3	TM246_HUMAN	transmembrane protein 246	317						integral component of membrane (GO:0016021)											CTCAGCCGCCGCAGTTCCAGG	0.617																																						ENST00000374851.1																			0											c.(949-951)Cgg>Tgg		transmembrane protein 246							91	94	93					9																	104238426		2203	4300	6503	SO:0001583	missense	84302					integral to membrane		g.chr9:104238426G>A	BC006115	CCDS6757.1	9q31.1	2012-04-02	2012-04-02	2012-04-02	ENSG00000165152	ENSG00000165152			28180	protein-coding gene	gene with protein product			"chromosome 9 open reading frame 125"	C9orf125		12477932	Standard	NM_032342		Approved	MGC12992	uc004bbm.3	Q9BRR3	OTTHUMG00000020381	ENST00000374851.1:c.949C>T	9.37:g.104238426G>A	ENSP00000363984:p.Arg317Trp					TMEM246_ENST00000374848.3_Missense_Mutation_p.R317W|RP11-490D19.6_ENST00000425734.1_RNA|RP11-490D19.6_ENST00000424154.1_RNA|RP11-490D19.6_ENST00000431507.1_RNA|TMEM246_ENST00000374847.1_Missense_Mutation_p.R317W|RP11-490D19.6_ENST00000450109.1_RNA	p.R317W			Q9BRR3	CI125_HUMAN			4	2096	-			317					Q49AQ4	Missense_Mutation	SNP	ENST00000374851.1	37	c.949C>T	CCDS6757.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.075163	0.76415	.	.	ENSG00000165152	ENST00000374848;ENST00000374847;ENST00000374851	.	.	.	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	T	0.78842	0.4347	M	0.79475	2.455	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.80498	-0.1356	9	0.66056	D	0.02	-24.2223	13.7491	0.62897	0.0:0.0:0.8465:0.1535	.	317	Q9BRR3	CI125_HUMAN	W	317	.	ENSP00000363980:R317W	R	-	1	2	C9orf125	103278247	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.469000	0.60169	2.700000	0.92200	0.563000	0.77884	CGG		0.617	TMEM246-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053444.1	NM_032342		14	37	0	0	0	1	0	14	37					A	104238426	G	A	104238426	3	1	435	1	0	0	0	0	1	0	0	0	2454	1086	38	1	266	1	C9orf125	9	104238426	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	1612309	104238426	36975005	4370	25295											
RNF20	56254	broad.mit.edu	37	chr9	104312963	104312963	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcatgcagtcacagttctccGtcttgtataatgagagccta	10	12	9	10	1	3	1	1	1	2	1	4	2	3	1	2	0	2	4	2	0	3	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:104312963G>A	ENST00000389120.3	+	10	1258	c.1168G>A	c.(1168-1170)Gtc>Atc	p.V390I	AL591377.1_ENST00000584534.1_RNA	NM_019592.5	NP_062538.5	Q5VTR2	BRE1A_HUMAN	ring finger protein 20, E3 ubiquitin protein ligase	390					histone H2B ubiquitination (GO:0033523)|histone monoubiquitination (GO:0010390)|negative regulation of cell migration (GO:0030336)|positive regulation of histone methylation (GO:0031062)|positive regulation of transcription, DNA-templated (GO:0045893)|protein polyubiquitination (GO:0000209)|regulation of transcription, DNA-templated (GO:0006355)|ubiquitin-dependent protein catabolic process (GO:0006511)	HULC complex (GO:0033503)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	chromatin binding (GO:0003682)|histone binding (GO:0042393)|ligase activity (GO:0016874)|p53 binding (GO:0002039)|transcription coactivator activity (GO:0003713)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|endometrium(3)|kidney(6)|large_intestine(7)|lung(23)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	54		all_hematologic(171;8.99e-06)|Acute lymphoblastic leukemia(62;0.000365)|Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;2.88e-19)|STAD - Stomach adenocarcinoma(157;0.00311)		ACAGTTCTCCGTCTTGTATAA	0.512																																						ENST00000389120.3																			0				breast(3)|endometrium(3)|kidney(6)|large_intestine(7)|lung(23)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						c.(1168-1170)Gtc>Atc		ring finger protein 20, E3 ubiquitin protein ligase							222	218	219					9																	104312963		2203	4300	6503	SO:0001583	missense	56254				histone H2B ubiquitination|histone monoubiquitination|negative regulation of cell migration|positive regulation of transcription, DNA-dependent|protein polyubiquitination|ubiquitin-dependent protein catabolic process	nucleolus|ubiquitin ligase complex	histone binding|p53 binding|transcription coactivator activity|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr9:104312963G>A	AF265230	CCDS35084.1	9q22	2012-02-23	2012-02-23	2008-12-12	ENSG00000155827	ENSG00000155827		"RING-type (C3HC4) zinc fingers"	10062	protein-coding gene	gene with protein product	"BRE1 E3 ubiquitin ligase homolog (S. cerevisiae)"	607699	"ring finger protein 20"			16337599, 12876294, 18832071, 19037095	Standard	NM_019592		Approved	FLJ20382, FLJ11189, KAIA2779, BRE1A, hBRE1, BRE1	uc004bbn.3	Q5VTR2	OTTHUMG00000020385	ENST00000389120.3:c.1168G>A	9.37:g.104312963G>A	ENSP00000373772:p.Val390Ile						p.V390I	NM_019592.5	NP_062538.5	Q5VTR2	BRE1A_HUMAN		OV - Ovarian serous cystadenocarcinoma(323;2.88e-19)|STAD - Stomach adenocarcinoma(157;0.00311)	10	1258	+		all_hematologic(171;8.99e-06)|Acute lymphoblastic leukemia(62;0.000365)|Myeloproliferative disorder(762;0.0255)	390					A7MCT5|Q2TB34|Q69YL5|Q6P527|Q8N3J4|Q96JD3|Q9H9Y7|Q9HA51|Q9NUR4|Q9NWQ3|Q9NX83	Missense_Mutation	SNP	ENST00000389120.3	37	c.1168G>A	CCDS35084.1	.	.	.	.	.	.	.	.	.	.	G	20.5	4.004435	0.74932	.	.	ENSG00000155827	ENST00000389120	T	0.36520	1.25	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	T	0.57169	0.2035	L	0.58428	1.81	0.80722	D	1	D	0.69078	0.997	D	0.65874	0.939	T	0.47959	-0.9076	10	0.38643	T	0.18	-15.0721	19.9164	0.97064	0.0:0.0:1.0:0.0	.	390	Q5VTR2	BRE1A_HUMAN	I	390	ENSP00000373772:V390I	ENSP00000373772:V390I	V	+	1	0	RNF20	103352784	1.000000	0.71417	0.969000	0.41365	0.881000	0.50899	9.209000	0.95087	2.810000	0.96702	0.650000	0.86243	GTC		0.512	RNF20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356402.1	NM_019592		49	80	0	0	0	1	0	49	80					A	104312963	G	A	104312963	3	1	435	1	0	0	0	0	1	0	0	0	13473	1145	40	1	1202	1	RNF20	9	104312963	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	74537	104312963	36900468	4371	25296											
RNF20	56254	broad.mit.edu	37	chr9	104314442	104314442	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggccctataaacagggagatGcgccacctcatcagtagcct	11	7	10	13	1	2	1	2	0	0	1	2	2	2	1	4	2	3	1	4	2	4	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:104314442G>A	ENST00000389120.3	+	12	1518	c.1428G>A	c.(1426-1428)atG>atA	p.M476I	AL591377.1_ENST00000584534.1_RNA	NM_019592.5	NP_062538.5	Q5VTR2	BRE1A_HUMAN	ring finger protein 20, E3 ubiquitin protein ligase	476					histone H2B ubiquitination (GO:0033523)|histone monoubiquitination (GO:0010390)|negative regulation of cell migration (GO:0030336)|positive regulation of histone methylation (GO:0031062)|positive regulation of transcription, DNA-templated (GO:0045893)|protein polyubiquitination (GO:0000209)|regulation of transcription, DNA-templated (GO:0006355)|ubiquitin-dependent protein catabolic process (GO:0006511)	HULC complex (GO:0033503)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	chromatin binding (GO:0003682)|histone binding (GO:0042393)|ligase activity (GO:0016874)|p53 binding (GO:0002039)|transcription coactivator activity (GO:0003713)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|endometrium(3)|kidney(6)|large_intestine(7)|lung(23)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	54		all_hematologic(171;8.99e-06)|Acute lymphoblastic leukemia(62;0.000365)|Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;2.88e-19)|STAD - Stomach adenocarcinoma(157;0.00311)		ACAGGGAGATGCGCCACCTCA	0.478																																						ENST00000389120.3																			0				breast(3)|endometrium(3)|kidney(6)|large_intestine(7)|lung(23)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						c.(1426-1428)atG>atA		ring finger protein 20, E3 ubiquitin protein ligase							99	95	96					9																	104314442		2203	4300	6503	SO:0001583	missense	56254				histone H2B ubiquitination|histone monoubiquitination|negative regulation of cell migration|positive regulation of transcription, DNA-dependent|protein polyubiquitination|ubiquitin-dependent protein catabolic process	nucleolus|ubiquitin ligase complex	histone binding|p53 binding|transcription coactivator activity|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr9:104314442G>A	AF265230	CCDS35084.1	9q22	2012-02-23	2012-02-23	2008-12-12	ENSG00000155827	ENSG00000155827		"RING-type (C3HC4) zinc fingers"	10062	protein-coding gene	gene with protein product	"BRE1 E3 ubiquitin ligase homolog (S. cerevisiae)"	607699	"ring finger protein 20"			16337599, 12876294, 18832071, 19037095	Standard	NM_019592		Approved	FLJ20382, FLJ11189, KAIA2779, BRE1A, hBRE1, BRE1	uc004bbn.3	Q5VTR2	OTTHUMG00000020385	ENST00000389120.3:c.1428G>A	9.37:g.104314442G>A	ENSP00000373772:p.Met476Ile						p.M476I	NM_019592.5	NP_062538.5	Q5VTR2	BRE1A_HUMAN		OV - Ovarian serous cystadenocarcinoma(323;2.88e-19)|STAD - Stomach adenocarcinoma(157;0.00311)	12	1518	+		all_hematologic(171;8.99e-06)|Acute lymphoblastic leukemia(62;0.000365)|Myeloproliferative disorder(762;0.0255)	476					A7MCT5|Q2TB34|Q69YL5|Q6P527|Q8N3J4|Q96JD3|Q9H9Y7|Q9HA51|Q9NUR4|Q9NWQ3|Q9NX83	Missense_Mutation	SNP	ENST00000389120.3	37	c.1428G>A	CCDS35084.1	.	.	.	.	.	.	.	.	.	.	G	17.97	3.519404	0.64634	.	.	ENSG00000155827	ENST00000389120	T	0.32515	1.45	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.50905	0.1643	L	0.56199	1.76	0.80722	D	1	P	0.45126	0.851	P	0.58391	0.838	T	0.11665	-1.0578	10	0.39692	T	0.17	-23.0907	20.4745	0.99168	0.0:0.0:1.0:0.0	.	476	Q5VTR2	BRE1A_HUMAN	I	476	ENSP00000373772:M476I	ENSP00000373772:M476I	M	+	3	0	RNF20	103354263	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.476000	0.97823	2.941000	0.99782	0.655000	0.94253	ATG		0.478	RNF20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356402.1	NM_019592		38	35	0	0	0	1	0	38	35					A	104314442	G	A	104314442	3	1	435	1	0	0	0	0	1	0	0	0	13473	1319	46	3	1470	3	RNF20	9	104314442	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	1479	104314442	36898989	4372	25297											
RNF20	56254	broad.mit.edu	37	chr9	104323384	104323384	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctacataggcaatggaggcaGcccagcttgcagatgacctc	11	7	11	12	0	0	2	0	1	0	1	1	3	0	3	2	3	4	4	2	3	3	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:104323384G>A	ENST00000389120.3	+	18	2611	c.2521G>A	c.(2521-2523)Gcc>Acc	p.A841T		NM_019592.5	NP_062538.5	Q5VTR2	BRE1A_HUMAN	ring finger protein 20, E3 ubiquitin protein ligase	841					histone H2B ubiquitination (GO:0033523)|histone monoubiquitination (GO:0010390)|negative regulation of cell migration (GO:0030336)|positive regulation of histone methylation (GO:0031062)|positive regulation of transcription, DNA-templated (GO:0045893)|protein polyubiquitination (GO:0000209)|regulation of transcription, DNA-templated (GO:0006355)|ubiquitin-dependent protein catabolic process (GO:0006511)	HULC complex (GO:0033503)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	chromatin binding (GO:0003682)|histone binding (GO:0042393)|ligase activity (GO:0016874)|p53 binding (GO:0002039)|transcription coactivator activity (GO:0003713)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|endometrium(3)|kidney(6)|large_intestine(7)|lung(23)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	54		all_hematologic(171;8.99e-06)|Acute lymphoblastic leukemia(62;0.000365)|Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;2.88e-19)|STAD - Stomach adenocarcinoma(157;0.00311)		AATGGAGGCAGCCCAGCTTGC	0.428																																						ENST00000389120.3																			0				breast(3)|endometrium(3)|kidney(6)|large_intestine(7)|lung(23)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						c.(2521-2523)Gcc>Acc		ring finger protein 20, E3 ubiquitin protein ligase							75	69	71					9																	104323384		2203	4300	6503	SO:0001583	missense	56254				histone H2B ubiquitination|histone monoubiquitination|negative regulation of cell migration|positive regulation of transcription, DNA-dependent|protein polyubiquitination|ubiquitin-dependent protein catabolic process	nucleolus|ubiquitin ligase complex	histone binding|p53 binding|transcription coactivator activity|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr9:104323384G>A	AF265230	CCDS35084.1	9q22	2012-02-23	2012-02-23	2008-12-12	ENSG00000155827	ENSG00000155827		"RING-type (C3HC4) zinc fingers"	10062	protein-coding gene	gene with protein product	"BRE1 E3 ubiquitin ligase homolog (S. cerevisiae)"	607699	"ring finger protein 20"			16337599, 12876294, 18832071, 19037095	Standard	NM_019592		Approved	FLJ20382, FLJ11189, KAIA2779, BRE1A, hBRE1, BRE1	uc004bbn.3	Q5VTR2	OTTHUMG00000020385	ENST00000389120.3:c.2521G>A	9.37:g.104323384G>A	ENSP00000373772:p.Ala841Thr						p.A841T	NM_019592.5	NP_062538.5	Q5VTR2	BRE1A_HUMAN		OV - Ovarian serous cystadenocarcinoma(323;2.88e-19)|STAD - Stomach adenocarcinoma(157;0.00311)	18	2611	+		all_hematologic(171;8.99e-06)|Acute lymphoblastic leukemia(62;0.000365)|Myeloproliferative disorder(762;0.0255)	841					A7MCT5|Q2TB34|Q69YL5|Q6P527|Q8N3J4|Q96JD3|Q9H9Y7|Q9HA51|Q9NUR4|Q9NWQ3|Q9NX83	Missense_Mutation	SNP	ENST00000389120.3	37	c.2521G>A	CCDS35084.1	.	.	.	.	.	.	.	.	.	.	G	28.2	4.899108	0.91962	.	.	ENSG00000155827	ENST00000389120	T	0.34072	1.38	5.68	5.68	0.88126	.	0.097898	0.64402	D	0.000001	T	0.42426	0.1202	M	0.68952	2.095	0.54753	D	0.999988	P	0.46784	0.884	P	0.46452	0.517	T	0.13737	-1.0498	10	0.16896	T	0.51	-11.5568	14.5865	0.68328	0.0:0.0:0.8539:0.1461	.	841	Q5VTR2	BRE1A_HUMAN	T	841	ENSP00000373772:A841T	ENSP00000373772:A841T	A	+	1	0	RNF20	103363205	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.075000	0.71261	2.835000	0.97688	0.650000	0.86243	GCC		0.428	RNF20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356402.1	NM_019592		19	29	0	0	0	1	0	19	29					A	104323384	G	A	104323384	3	1	435	1	0	0	0	0	1	0	0	0	13473	971	34	3	2587	3	RNF20	9	104323384	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	8942	104323384	36890047	4373	25298											
GRIN3A	116443	broad.mit.edu	37	chr9	104499708	104499708	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgcaccaccacggtatggCacacactttgcaggaaggag	11	7	11	12	1	0	0	0	0	0	0	0	2	0	2	2	4	2	4	2	4	2	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:104499708C>G	ENST00000361820.3	-	1	1154	c.554G>C	c.(553-555)tGc>tCc	p.C185S		NM_133445.2	NP_597702.2	Q8TCU5	NMD3A_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3A	185					calcium ion transport (GO:0006816)|dendrite development (GO:0016358)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|prepulse inhibition (GO:0060134)|response to ethanol (GO:0045471)|rhythmic process (GO:0048511)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|identical protein binding (GO:0042802)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|neurotransmitter binding (GO:0042165)|protein phosphatase 2A binding (GO:0051721)			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Acetylcysteine(DB06151)|Amantadine(DB00915)|Atomoxetine(DB00289)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Gabapentin(DB00996)|Halothane(DB01159)|Ketamine(DB01221)|Ketobemidone(DB06738)|Memantine(DB01043)|Methadone(DB00333)|Milnacipran(DB04896)|Orphenadrine(DB01173)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Procaine(DB00721)|Secobarbital(DB00418)|Tramadol(DB00193)	CACGGTATGGCACACACTTTG	0.597																																						ENST00000361820.3																			0				breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80						c.(553-555)tGc>tCc		glutamate receptor, ionotropic, N-methyl-D-aspartate 3A	Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740)						104	96	98					9																	104499708		2203	4300	6503	SO:0001583	missense	116443				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|N-methyl-D-aspartate selective glutamate receptor activity|protein phosphatase 2A binding	g.chr9:104499708C>G		CCDS6758.1	9q31.1	2012-08-29			ENSG00000198785	ENSG00000198785		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	16767	protein-coding gene	gene with protein product		606650					Standard	NM_133445		Approved	GluN3A	uc004bbp.2	Q8TCU5	OTTHUMG00000020387	ENST00000361820.3:c.554G>C	9.37:g.104499708C>G	ENSP00000355155:p.Cys185Ser						p.C185S	NM_133445.2	NP_597702.2	Q8TCU5	NMD3A_HUMAN			1	1154	-		Acute lymphoblastic leukemia(62;0.0568)	185					B3DLF9|Q5VTR3|Q8TF29|Q8WXI6	Missense_Mutation	SNP	ENST00000361820.3	37	c.554G>C	CCDS6758.1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.395368	0.83011	.	.	ENSG00000198785	ENST00000361820	D	0.86030	-2.06	5.3	5.3	0.74995	.	0.171573	0.51477	D	0.000083	D	0.91603	0.7347	M	0.61703	1.905	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.92291	0.5841	10	0.87932	D	0	.	18.966	0.92697	0.0:1.0:0.0:0.0	.	185	Q8TCU5	NMD3A_HUMAN	S	185	ENSP00000355155:C185S	ENSP00000355155:C185S	C	-	2	0	GRIN3A	103539529	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.328000	0.79160	2.480000	0.83734	0.655000	0.94253	TGC		0.597	GRIN3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053453.1			5	32	0	0	0	1	0	5	32					G	104499708	C	G	104499708	3	3	435	1	0	0	0	0	1	0	0	0	6783	710	25	5	2829	5	GRIN3A	9	104499708	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	176324	104499708	36713723	4374	25299											
SMC2	10592	broad.mit.edu	37	chr9	106901465	106901465	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtatgttcaacaatgcaaacGttcttttcaaaaccaagttt	14	14	5	8	1	3	0	2	0	1	0	3	0	3	0	1	0	4	5	1	0	7	6			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:106901465G>A	ENST00000286398.7	+	25	3751	c.3463G>A	c.(3463-3465)Gtt>Att	p.V1155I	SMC2_ENST00000374793.3_Missense_Mutation_p.V1155I|SMC2_ENST00000374787.3_Missense_Mutation_p.V1155I	NM_001042551.1|NM_001265602.1|NM_006444.2	NP_001036016.1|NP_001252531.1|NP_006435.2	O95347	SMC2_HUMAN	structural maintenance of chromosomes 2	1155					kinetochore organization (GO:0051383)|meiotic chromosome condensation (GO:0010032)|meiotic chromosome segregation (GO:0045132)|mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	condensed chromosome (GO:0000793)|condensin complex (GO:0000796)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein heterodimerization activity (GO:0046982)			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(14)|ovary(5)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	48						CAATGCAAACGTTCTTTTCAA	0.313																																						ENST00000286398.7																			0				breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(14)|ovary(5)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	48						c.(3463-3465)Gtt>Att		structural maintenance of chromosomes 2							93	92	92					9																	106901465		2203	4300	6503	SO:0001583	missense	10592				cell division|mitotic chromosome condensation|symbiosis, encompassing mutualism through parasitism	condensin complex|cytoplasm|nuclear chromosome	ATP binding|protein heterodimerization activity	g.chr9:106901465G>A	AF092563	CCDS35086.1	9q31.1	2008-05-14	2006-07-06	2006-07-06	ENSG00000136824	ENSG00000136824		"Structural maintenance of chromosomes proteins"	14011	protein-coding gene	gene with protein product		605576	"SMC2 (structural maintenance of chromosomes 2, yeast)-like 1", "SMC2 structural maintenance of chromosomes 2-like 1 (yeast)"	SMC2L1		9789013	Standard	NM_006444		Approved	hCAP-E, CAP-E	uc011lvl.2	O95347	OTTHUMG00000020401	ENST00000286398.7:c.3463G>A	9.37:g.106901465G>A	ENSP00000286398:p.Val1155Ile					SMC2_ENST00000374787.3_Missense_Mutation_p.V1155I|SMC2_ENST00000374793.3_Missense_Mutation_p.V1155I	p.V1155I	NM_001042551.1|NM_001265602.1|NM_006444.2	NP_001036016.1|NP_001252531.1|NP_006435.2	O95347	SMC2_HUMAN			25	3751	+			1155					Q6IEE0|Q9P1P2	Missense_Mutation	SNP	ENST00000286398.7	37	c.3463G>A	CCDS35086.1	.	.	.	.	.	.	.	.	.	.	G	33	5.218731	0.95104	.	.	ENSG00000136824	ENST00000286398;ENST00000374793;ENST00000374787	T;T;T	0.67865	-0.29;-0.29;-0.29	5.46	5.46	0.80206	RecF/RecN/SMC (1);	0.000000	0.85682	D	0.000000	D	0.82870	0.5131	M	0.80847	2.515	0.80722	D	1	D	0.89917	1.0	D	0.76071	0.987	D	0.83822	0.0247	10	0.59425	D	0.04	-16.8573	18.0421	0.89322	0.0:0.0:1.0:0.0	.	1155	O95347	SMC2_HUMAN	I	1155	ENSP00000286398:V1155I;ENSP00000363925:V1155I;ENSP00000363919:V1155I	ENSP00000286398:V1155I	V	+	1	0	SMC2	105941286	1.000000	0.71417	0.984000	0.44739	0.995000	0.86356	9.543000	0.98089	2.838000	0.97847	0.591000	0.81541	GTT		0.313	SMC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053470.1			23	26	0	0	0	1	0	23	26					A	106901465	G	A	106901465	3	1	435	1	0	0	0	0	1	0	0	0	14783	1145	40	1	3557	1	SMC2	9	106901465	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	2401757	106901465	34311966	4375	25300											
OR13C5	138799	broad.mit.edu	37	chr9	107361258	107361258	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctcctatgatccaggacccaGctgccatgggtacataggca	10	8	10	13	0	0	1	0	1	0	0	2	2	2	2	4	3	3	3	4	3	3	3	rs75243926		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:107361258G>A	ENST00000374779.2	-	1	530	c.437C>T	c.(436-438)gCt>gTt	p.A146V		NM_001004482.1	NP_001004482.1	Q8NGS8	O13C5_HUMAN	olfactory receptor, family 13, subfamily C, member 5	146						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(4)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|pancreas(2)|prostate(2)|skin(4)	28						CCAGGACCCAGCTGCCATGGG	0.473																																						ENST00000374779.2																			0				endometrium(4)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|pancreas(2)|prostate(2)|skin(4)	28						c.(436-438)gCt>gTt		olfactory receptor, family 13, subfamily C, member 5							112	109	110					9																	107361258		2203	4300	6503	SO:0001583	missense	138799				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:107361258G>A		CCDS35091.1	9q31.1	2012-10-03			ENSG00000255800	ENSG00000277556		"GPCR / Class A : Olfactory receptors"	15100	protein-coding gene	gene with protein product							Standard	NM_001004482		Approved		uc011lvp.2	Q8NGS8	OTTHUMG00000020408	ENST00000374779.2:c.437C>T	9.37:g.107361258G>A	ENSP00000363911:p.Ala146Val						p.A146V	NM_001004482.1	NP_001004482.1	Q8NGS8	O13C5_HUMAN			1	530	-			146					B2RNE5|B9EGW5|Q6IF53	Missense_Mutation	SNP	ENST00000374779.2	37	c.437C>T	CCDS35091.1	.	.	.	.	.	.	.	.	.	.	G	11.42	1.633399	0.29068	.	.	ENSG00000255800	ENST00000374779	T	0.38077	1.16	4.17	3.25	0.37280	GPCR, rhodopsin-like superfamily (1);	0.737424	0.10990	U	0.611740	T	0.30386	0.0763	L	0.48218	1.51	0.09310	N	1	B	0.09022	0.002	B	0.17722	0.019	T	0.22312	-1.0220	10	0.35671	T	0.21	.	6.7442	0.23453	0.2166:0.0:0.7834:0.0	.	146	Q8NGS8	O13C5_HUMAN	V	146	ENSP00000363911:A146V	ENSP00000363911:A146V	A	-	2	0	OR13C5	106401079	0.000000	0.05858	0.630000	0.29268	0.330000	0.28571	-0.002000	0.12924	0.948000	0.37687	0.531000	0.56144	GCT		0.473	OR13C5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053479.2	NM_001004482		50	48	0	0	0	1	0	50	48					A	107361258	G	A	107361258	3	1	435	1	0	0	0	0	1	0	0	0	10937	971	34	3	521	3	OR13C5	9	107361258	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	459793	107361258	33852173	4376	25301											
OR13D1	286365	broad.mit.edu	37	chr9	107457453	107457453	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgttaattttcatctcctatGtgtttattctctcttccatc	6	22	3	10	0	4	0	1	0	3	0	8	0	5	0	2	0	0	2	2	0	3	8			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:107457453G>A	ENST00000318763.5	+	1	794	c.751G>A	c.(751-753)Gtg>Atg	p.V251M		NM_001004484.1	NP_001004484.1	Q8NGV5	O13D1_HUMAN	olfactory receptor, family 13, subfamily D, member 1	251						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			large_intestine(4)|lung(10)|ovary(1)|prostate(2)|skin(2)	19						CATCTCCTATGTGTTTATTCT	0.368																																						ENST00000318763.5																			0				large_intestine(4)|lung(10)|ovary(1)|prostate(2)|skin(2)	19						c.(751-753)Gtg>Atg		olfactory receptor, family 13, subfamily D, member 1							156	151	153					9																	107457453		2203	4300	6503	SO:0001583	missense	286365				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:107457453G>A		CCDS35094.1	9q31.1	2013-09-24			ENSG00000179055	ENSG00000179055		"GPCR / Class A : Olfactory receptors"	14695	protein-coding gene	gene with protein product							Standard	NM_001004484		Approved		uc011lvs.2	Q8NGV5	OTTHUMG00000020412	ENST00000318763.5:c.751G>A	9.37:g.107457453G>A	ENSP00000317357:p.Val251Met						p.V251M	NM_001004484.1	NP_001004484.1	Q8NGV5	O13D1_HUMAN			1	794	+			251					B9EIS1|Q6IFL1	Missense_Mutation	SNP	ENST00000318763.5	37	c.751G>A	CCDS35094.1	.	.	.	.	.	.	.	.	.	.	G	2.339	-0.351599	0.05173	.	.	ENSG00000179055	ENST00000318763	T	0.00265	8.39	3.87	-1.67	0.08238	GPCR, rhodopsin-like superfamily (1);	0.528419	0.14006	U	0.347809	T	0.00210	0.0006	L	0.53780	1.695	0.09310	N	1	B	0.33477	0.413	B	0.37387	0.248	T	0.17837	-1.0356	10	0.37606	T	0.19	.	10.3273	0.43801	0.4517:0.0:0.5483:0.0	.	251	Q8NGV5	O13D1_HUMAN	M	251	ENSP00000317357:V251M	ENSP00000317357:V251M	V	+	1	0	OR13D1	106497274	0.000000	0.05858	0.000000	0.03702	0.152000	0.21847	-0.366000	0.07563	-0.589000	0.05874	-1.203000	0.01651	GTG		0.368	OR13D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053483.1			40	46	0	0	0	1	0	40	46					A	107457453	G	A	107457453	3	1	435	1	0	0	0	0	1	0	0	0	10940	1377	48	3	753	3	OR13D1	9	107457453	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	96195	107457453	33755978	4377	25302											
ABCA1	19	broad.mit.edu	37	chr9	107589250	107589250	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgaagatcttgagtgtgaaGcccacgtagtcctgccatgc	9	9	12	11	2	1	3	0	2	1	1	2	4	2	3	3	0	3	1	3	0	3	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:107589250G>A	ENST00000374736.3	-	16	2710	c.2316C>T	c.(2314-2316)ggC>ggT	p.G772G	ABCA1_ENST00000494467.1_5'UTR	NM_005502.3	NP_005493.2	O95477	ABCA1_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 1	772					apolipoprotein A-I-mediated signaling pathway (GO:0038027)|cellular lipid metabolic process (GO:0044255)|cellular response to cholesterol (GO:0071397)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to retinoic acid (GO:0071300)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|endosomal transport (GO:0016197)|G-protein coupled receptor signaling pathway (GO:0007186)|high-density lipoprotein particle assembly (GO:0034380)|interleukin-1 beta secretion (GO:0050702)|intracellular cholesterol transport (GO:0032367)|lipoprotein metabolic process (GO:0042157)|lysosome organization (GO:0007040)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|peptide secretion (GO:0002790)|phagocytosis, engulfment (GO:0006911)|phospholipid efflux (GO:0033700)|phospholipid homeostasis (GO:0055091)|phospholipid translocation (GO:0045332)|platelet dense granule organization (GO:0060155)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cholesterol efflux (GO:0010875)|protein lipidation (GO:0006497)|regulation of Cdc42 protein signal transduction (GO:0032489)|response to drug (GO:0042493)|response to laminar fluid shear stress (GO:0034616)|response to low-density lipoprotein particle (GO:0055098)|response to nutrient (GO:0007584)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)	endocytic vesicle (GO:0030139)|external side of plasma membrane (GO:0009897)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)	anion transmembrane transporter activity (GO:0008509)|apolipoprotein A-I binding (GO:0034186)|apolipoprotein A-I receptor activity (GO:0034188)|apolipoprotein binding (GO:0034185)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase binding (GO:0051117)|cholesterol binding (GO:0015485)|cholesterol transporter activity (GO:0017127)|phospholipid binding (GO:0005543)|phospholipid transporter activity (GO:0005548)|receptor binding (GO:0005102)|small GTPase binding (GO:0031267)|syntaxin binding (GO:0019905)			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	115				OV - Ovarian serous cystadenocarcinoma(323;0.023)	Adenosine triphosphate(DB00171)|Glyburide(DB01016)|Probucol(DB01599)	TGAGTGTGAAGCCCACGTAGT	0.537																																						ENST00000374736.3																			0				NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	115						c.(2314-2316)ggC>ggT		ATP-binding cassette, sub-family A (ABC1), member 1	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)						108	93	98					9																	107589250		2203	4300	6503	SO:0001819	synonymous_variant	19				Cdc42 protein signal transduction|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport	integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle	anion transmembrane transporter activity|apolipoprotein A-I receptor activity|ATP binding|ATPase activity|cholesterol transporter activity|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding	g.chr9:107589250G>A	AJ012376	CCDS6762.1	9q31	2014-03-14			ENSG00000165029	ENSG00000165029		"ATP binding cassette transporters / subfamily A"	29	protein-coding gene	gene with protein product	"Tangier disease"	600046		ABC1, HDLDT1		8088782, 10431236, 10431237, 10431238	Standard	NM_005502		Approved	TGD	uc004bcl.3	O95477	OTTHUMG00000020417	ENST00000374736.3:c.2316C>T	9.37:g.107589250G>A						ABCA1_ENST00000494467.1_5'UTR	p.G772G	NM_005502.3	NP_005493.2	O95477	ABCA1_HUMAN		OV - Ovarian serous cystadenocarcinoma(323;0.023)	16	2710	-			772					Q5VX33|Q96S56|Q96T85|Q9NQV4|Q9UN06|Q9UN07|Q9UN08|Q9UN09	Silent	SNP	ENST00000374736.3	37	c.2316C>T	CCDS6762.1																																																																																				0.537	ABCA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053491.1	NM_005502		6	14	0	0	0	1	0	6	14					A	107589250	G	A	107589250	2	1	435	1	0	0	0	0	0	0	0	1	28	958	34	3		3	ABCA1	9	107589250	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	131797	107589250	33624181	4378	25303											
ABCA1	19	broad.mit.edu	37	chr9	107589390	107589390	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctgcaggattgtcaccacagCaaacacggacaggaagacaa	16	4	10	11	1	1	1	1	0	0	1	1	4	1	4	1	3	3	2	1	3	3	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:107589390C>T	ENST00000374736.3	-	16	2570	c.2176G>A	c.(2176-2178)Gct>Act	p.A726T	ABCA1_ENST00000494467.1_5'UTR	NM_005502.3	NP_005493.2	O95477	ABCA1_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 1	726					apolipoprotein A-I-mediated signaling pathway (GO:0038027)|cellular lipid metabolic process (GO:0044255)|cellular response to cholesterol (GO:0071397)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to retinoic acid (GO:0071300)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|endosomal transport (GO:0016197)|G-protein coupled receptor signaling pathway (GO:0007186)|high-density lipoprotein particle assembly (GO:0034380)|interleukin-1 beta secretion (GO:0050702)|intracellular cholesterol transport (GO:0032367)|lipoprotein metabolic process (GO:0042157)|lysosome organization (GO:0007040)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|peptide secretion (GO:0002790)|phagocytosis, engulfment (GO:0006911)|phospholipid efflux (GO:0033700)|phospholipid homeostasis (GO:0055091)|phospholipid translocation (GO:0045332)|platelet dense granule organization (GO:0060155)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cholesterol efflux (GO:0010875)|protein lipidation (GO:0006497)|regulation of Cdc42 protein signal transduction (GO:0032489)|response to drug (GO:0042493)|response to laminar fluid shear stress (GO:0034616)|response to low-density lipoprotein particle (GO:0055098)|response to nutrient (GO:0007584)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)	endocytic vesicle (GO:0030139)|external side of plasma membrane (GO:0009897)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)	anion transmembrane transporter activity (GO:0008509)|apolipoprotein A-I binding (GO:0034186)|apolipoprotein A-I receptor activity (GO:0034188)|apolipoprotein binding (GO:0034185)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase binding (GO:0051117)|cholesterol binding (GO:0015485)|cholesterol transporter activity (GO:0017127)|phospholipid binding (GO:0005543)|phospholipid transporter activity (GO:0005548)|receptor binding (GO:0005102)|small GTPase binding (GO:0031267)|syntaxin binding (GO:0019905)			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	115				OV - Ovarian serous cystadenocarcinoma(323;0.023)	Adenosine triphosphate(DB00171)|Glyburide(DB01016)|Probucol(DB01599)	GTCACCACAGCAAACACGGAC	0.527																																						ENST00000374736.3																			0				NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	115						c.(2176-2178)Gct>Act		ATP-binding cassette, sub-family A (ABC1), member 1	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)						167	124	138					9																	107589390		2203	4300	6503	SO:0001583	missense	19				Cdc42 protein signal transduction|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport	integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle	anion transmembrane transporter activity|apolipoprotein A-I receptor activity|ATP binding|ATPase activity|cholesterol transporter activity|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding	g.chr9:107589390C>T	AJ012376	CCDS6762.1	9q31	2014-03-14			ENSG00000165029	ENSG00000165029		"ATP binding cassette transporters / subfamily A"	29	protein-coding gene	gene with protein product	"Tangier disease"	600046		ABC1, HDLDT1		8088782, 10431236, 10431237, 10431238	Standard	NM_005502		Approved	TGD	uc004bcl.3	O95477	OTTHUMG00000020417	ENST00000374736.3:c.2176G>A	9.37:g.107589390C>T	ENSP00000363868:p.Ala726Thr					ABCA1_ENST00000494467.1_5'UTR	p.A726T	NM_005502.3	NP_005493.2	O95477	ABCA1_HUMAN		OV - Ovarian serous cystadenocarcinoma(323;0.023)	16	2570	-			726					Q5VX33|Q96S56|Q96T85|Q9NQV4|Q9UN06|Q9UN07|Q9UN08|Q9UN09	Missense_Mutation	SNP	ENST00000374736.3	37	c.2176G>A	CCDS6762.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.090333	0.76756	.	.	ENSG00000165029	ENST00000374736	T	0.77229	-1.08	5.3	5.3	0.74995	.	0.232833	0.43416	D	0.000579	T	0.77811	0.4186	L	0.60845	1.875	0.80722	D	1	B	0.19817	0.039	B	0.27262	0.078	T	0.73911	-0.3833	10	0.45353	T	0.12	.	18.9548	0.92654	0.0:1.0:0.0:0.0	.	726	O95477	ABCA1_HUMAN	T	726	ENSP00000363868:A726T	ENSP00000363868:A726T	A	-	1	0	ABCA1	106629211	1.000000	0.71417	0.957000	0.39632	0.972000	0.66771	7.818000	0.86416	2.468000	0.83385	0.655000	0.94253	GCT		0.527	ABCA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053491.1	NM_005502		4	11	0	0	0	1	0	4	11					T	107589390	C	T	107589390	3	4	435	1	0	0	0	0	1	0	0	0	28	710	25	3	4749	3	ABCA1	9	107589390	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	140	107589390	33624041	4379	25304											
ZNF462	58499	broad.mit.edu	37	chr9	109691436	109691436	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caaagtgatcatcccatcccCgcccaaggacgactcccctc	10	6	6	19	2	1	1	1	1	0	0	5	3	4	2	6	1	0	0	6	1	2	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:109691436C>T	ENST00000277225.5	+	3	5532	c.5243C>T	c.(5242-5244)cCg>cTg	p.P1748L	ZNF462_ENST00000441147.2_Missense_Mutation_p.P593L|ZNF462_ENST00000457913.1_Missense_Mutation_p.P1748L			Q96JM2	ZN462_HUMAN	zinc finger protein 462	1748					chromatin organization (GO:0006325)|negative regulation of DNA binding (GO:0043392)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						ATCCCATCCCCGCCCAAGGAC	0.567																																						ENST00000277225.5																			0				NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						c.(5242-5244)cCg>cTg		zinc finger protein 462							106	87	93					9																	109691436		2203	4300	6503	SO:0001583	missense	58499				transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:109691436C>T	AB058706	CCDS35096.1	9q31.3	2008-02-05			ENSG00000148143	ENSG00000148143		"Zinc fingers, C2H2-type"	21684	protein-coding gene	gene with protein product							Standard	NM_021224		Approved	DKFZP762N2316, KIAA1803, Zfp462	uc004bcz.3	Q96JM2	OTTHUMG00000020438	ENST00000277225.5:c.5243C>T	9.37:g.109691436C>T	ENSP00000277225:p.Pro1748Leu					ZNF462_ENST00000457913.1_Missense_Mutation_p.P1748L|ZNF462_ENST00000441147.2_Missense_Mutation_p.P593L	p.P1748L			Q96JM2	ZN462_HUMAN			3	5532	+			1748					Q5T0T4|Q8N408	Missense_Mutation	SNP	ENST00000277225.5	37	c.5243C>T	CCDS35096.1	.	.	.	.	.	.	.	.	.	.	C	19.78	3.890472	0.72524	.	.	ENSG00000148143	ENST00000277225;ENST00000457913;ENST00000374686;ENST00000441147	T;T;T;T	0.06768	3.26;3.69;3.74;3.81	6.08	6.08	0.98989	.	0.103096	0.64402	D	0.000002	T	0.13756	0.0333	N	0.14661	0.345	0.80722	D	1	D;D	0.71674	0.998;0.992	P;P	0.56751	0.805;0.644	T	0.08229	-1.0732	10	0.40728	T	0.16	.	20.6721	0.99693	0.0:1.0:0.0:0.0	.	1748;1748	Q96JM2-3;Q96JM2	.;ZN462_HUMAN	L	1748;1748;631;593	ENSP00000277225:P1748L;ENSP00000414570:P1748L;ENSP00000363818:P631L;ENSP00000397306:P593L	ENSP00000277225:P1748L	P	+	2	0	ZNF462	108731257	0.988000	0.35896	0.915000	0.36163	0.953000	0.61014	5.545000	0.67237	2.894000	0.99253	0.591000	0.81541	CCG		0.567	ZNF462-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000053532.2	NM_021224		4	30	0	0	0	1	0	4	30					T	109691436	C	T	109691436	3	4	435	1	0	0	0	0	1	0	0	0	17923	652	23	2	5249	2	ZNF462	9	109691436	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	2102046	109691436	31521995	4380	25305											
IKBKAP	8518	broad.mit.edu	37	chr9	111693365	111693365	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttcggagagagaagcactgaGgattccctggaccttgaata	12	9	12	8	1	0	4	0	2	0	2	2	8	1	6	2	3	1	1	2	3	3	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:111693365G>T	ENST00000374647.5	-	2	369	c.62C>A	c.(61-63)cCt>cAt	p.P21H	IKBKAP_ENST00000537196.1_Intron	NM_003640.3	NP_003631.2	O95163	ELP1_HUMAN	inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein	21					chromatin organization (GO:0006325)|immune response (GO:0006955)|positive regulation of cell migration (GO:0030335)|protein complex assembly (GO:0006461)|protein phosphorylation (GO:0006468)|regulation of protein kinase activity (GO:0045859)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|transcription elongation from RNA polymerase II promoter (GO:0006368)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|Elongator holoenzyme complex (GO:0033588)|nucleolus (GO:0005730)|transcription elongation factor complex (GO:0008023)	phosphorylase kinase regulator activity (GO:0008607)|signal transducer activity (GO:0004871)			NS(2)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						GAAGCACTGAGGATTCCCTGG	0.463																																						ENST00000374647.5																			0				NS(2)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						c.(61-63)cCt>cAt		inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein							174	153	160					9																	111693365		2203	4300	6503	SO:0001583	missense	8518				immune response|protein complex assembly|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|DNA-directed RNA polymerase II, holoenzyme|nucleolus|transcription elongation factor complex	phosphorylase kinase regulator activity|protein binding|signal transducer activity	g.chr9:111693365G>T	AF044195	CCDS6773.1	9q31	2014-09-17	2003-12-02		ENSG00000070061	ENSG00000070061		"Elongator acetyltransferase complex subunits"	5959	protein-coding gene	gene with protein product	"elongator acetyltransferase complex subunit 1"	603722	"dysautonomia (Riley-Day syndrome, hereditary sensory autonomic neuropathy type III)"	DYS		9751059, 11179008	Standard	NM_003640		Approved	IKAP, TOT1, ELP1, IKI3	uc004bdm.4	O95163	OTTHUMG00000020465	ENST00000374647.5:c.62C>A	9.37:g.111693365G>T	ENSP00000363779:p.Pro21His					IKBKAP_ENST00000537196.1_Intron	p.P21H	NM_003640.3	NP_003631.2	O95163	ELP1_HUMAN			2	369	-			21					Q5JSV2|Q9H327|Q9UG87	Missense_Mutation	SNP	ENST00000374647.5	37	c.62C>A	CCDS6773.1	.	.	.	.	.	.	.	.	.	.	G	24.1	4.489178	0.84962	.	.	ENSG00000070061	ENST00000374647	T	0.05925	3.37	4.74	4.74	0.60224	.	0.000000	0.85682	D	0.000000	T	0.28101	0.0693	M	0.84846	2.72	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.03095	-1.1073	10	0.39692	T	0.17	-13.2811	15.5901	0.76521	0.0:0.0:1.0:0.0	.	21	O95163	ELP1_HUMAN	H	21	ENSP00000363779:P21H	ENSP00000363779:P21H	P	-	2	0	IKBKAP	110733186	1.000000	0.71417	0.998000	0.56505	0.987000	0.75469	6.053000	0.71089	2.329000	0.79093	0.650000	0.86243	CCT		0.463	IKBKAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053574.1			6	76	1	0	0.00307968	1	0.00311927	6	76					T	111693365	G	T	111693365	3	4	435	1	0	0	0	0	1	0	0	0	7610	1000	35	5	4080	5	IKBKAP	9	111693365	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	2001929	111693365	29520066	4381	25306											
CTNNAL1	8727	broad.mit.edu	37	chr9	111754918	111754918	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaaaggtaagtaccttattTcttgatgttattatctgttt	11	19	7	4	0	2	2	0	1	2	1	2	2	2	2	1	1	1	4	1	1	6	8			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:111754918T>C	ENST00000325551.4	-	3	599	c.513A>G	c.(511-513)agA>agG	p.R171R	CTNNAL1_ENST00000325580.6_Silent_p.R171R|RNA5-8SP3_ENST00000364357.1_RNA|CTNNAL1_ENST00000374593.4_Silent_p.R171R|CTNNAL1_ENST00000374595.4_Silent_p.R171R	NM_003798.2	NP_003789.1	Q9UBT7	CTNL1_HUMAN	catenin (cadherin-associated protein), alpha-like 1	171					cell adhesion (GO:0007155)|Rho protein signal transduction (GO:0007266)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	structural molecule activity (GO:0005198)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(4)|urinary_tract(2)	25				STAD - Stomach adenocarcinoma(157;0.0768)		GTACCTTATTTCTTGATGTTA	0.373																																						ENST00000374595.4																			0				cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(4)|urinary_tract(2)	25						c.(511-513)agA>agG		catenin (cadherin-associated protein), alpha-like 1							100	93	95					9																	111754918		2203	4300	6503	SO:0001819	synonymous_variant	8727				cell adhesion|Rho protein signal transduction	actin cytoskeleton|cytosol|plasma membrane	cadherin binding|structural molecule activity	g.chr9:111754918T>C	AF030233	CCDS6775.1, CCDS69638.1	9q31.2	2008-07-21			ENSG00000119326	ENSG00000119326			2512	protein-coding gene	gene with protein product	"alpha-catulin", "alpha2-catulin"	604785				9806841	Standard	XM_005252291		Approved	CLLP, alpha-CATU	uc004bdo.1	Q9UBT7	OTTHUMG00000020466	ENST00000325551.4:c.513A>G	9.37:g.111754918T>C						CTNNAL1_ENST00000325580.6_Silent_p.R171R|CTNNAL1_ENST00000374593.4_Silent_p.R171R|CTNNAL1_ENST00000325551.4_Silent_p.R171R	p.R171R			Q9UBT7	CTNL1_HUMAN		STAD - Stomach adenocarcinoma(157;0.0768)	3	592	-			171					B5BU47|O76084|Q53FQ2|Q5JTQ7|Q5JTQ8|Q9Y401	Silent	SNP	ENST00000325551.4	37	c.513A>G	CCDS6775.1																																																																																				0.373	CTNNAL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053577.1	NM_003798		3	35	0	0	0	1	0	3	35					C	111754918	T	C	111754918	2	2	435	1	0	0	0	0	0	0	0	1	4015	1780	62	4		4	CTNNAL1	9	111754918	Silent	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	61553	111754918	29458513	4382	25307											
CTNNAL1	8727	broad.mit.edu	37	chr9	111761528	111761528	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttatctttatgattaataagCgtggtgatctaaaaataaaa	17	15	6	3	1	2	2	0	2	2	0	2	2	2	2	0	1	1	0	0	1	9	7	rs368581163		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:111761528C>T	ENST00000325551.4	-	2	236	c.150G>A	c.(148-150)acG>acA	p.T50T	CTNNAL1_ENST00000325580.6_Silent_p.T50T|CTNNAL1_ENST00000374593.4_Silent_p.T50T|CTNNAL1_ENST00000374595.4_Silent_p.T50T	NM_003798.2	NP_003789.1	Q9UBT7	CTNL1_HUMAN	catenin (cadherin-associated protein), alpha-like 1	50					cell adhesion (GO:0007155)|Rho protein signal transduction (GO:0007266)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	structural molecule activity (GO:0005198)	p.T50T(1)		cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(4)|urinary_tract(2)	25				STAD - Stomach adenocarcinoma(157;0.0768)		GATTAATAAGCGTGGTGATCT	0.328																																						ENST00000374595.4																			1	Substitution - coding silent(1)	p.T50T(1)	large_intestine(1)	cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(4)|urinary_tract(2)	25						c.(148-150)acG>acA		catenin (cadherin-associated protein), alpha-like 1		T		0,4406		0,0,2203	96	102	100		150	0.8	1	9		100	1,8599	816.3+/-406.9	0,1,4299	no	coding-synonymous	CTNNAL1	NM_003798.2		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		50/735	111761528	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	8727				cell adhesion|Rho protein signal transduction	actin cytoskeleton|cytosol|plasma membrane	cadherin binding|structural molecule activity	g.chr9:111761528C>T	AF030233	CCDS6775.1, CCDS69638.1	9q31.2	2008-07-21			ENSG00000119326	ENSG00000119326			2512	protein-coding gene	gene with protein product	"alpha-catulin", "alpha2-catulin"	604785				9806841	Standard	XM_005252291		Approved	CLLP, alpha-CATU	uc004bdo.1	Q9UBT7	OTTHUMG00000020466	ENST00000325551.4:c.150G>A	9.37:g.111761528C>T						CTNNAL1_ENST00000325580.6_Silent_p.T50T|CTNNAL1_ENST00000374593.4_Silent_p.T50T|CTNNAL1_ENST00000325551.4_Silent_p.T50T	p.T50T			Q9UBT7	CTNL1_HUMAN		STAD - Stomach adenocarcinoma(157;0.0768)	2	229	-			50					B5BU47|O76084|Q53FQ2|Q5JTQ7|Q5JTQ8|Q9Y401	Silent	SNP	ENST00000325551.4	37	c.150G>A	CCDS6775.1																																																																																				0.328	CTNNAL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053577.1	NM_003798		20	102	0	0	0	1	0	20	102					T	111761528	C	T	111761528	2	4	435	1	0	0	0	0	0	0	0	1	4015	755	27	1		1	CTNNAL1	9	111761528	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	6610	111761528	29451903	4383	25308											
TXNDC8	255220	broad.mit.edu	37	chr9	113100054	113100054	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagccaaataaatacttgccGtgtctttaataatctgtacc	14	13	5	9	1	2	0	0	0	2	0	2	0	2	0	3	0	4	1	3	0	8	7			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:113100054G>A	ENST00000374511.3	-	1	71	c.23C>T	c.(22-24)aCg>aTg	p.T8M	TXNDC8_ENST00000374510.4_Splice_Site_p.T8M|TXNDC8_ENST00000374507.4_Splice_Site_p.T8M|TXNDC8_ENST00000423740.2_Splice_Site_p.T8M			Q6A555	TXND8_HUMAN	thioredoxin domain containing 8 (spermatozoa)	8	Thioredoxin.				acrosome assembly (GO:0001675)|cell redox homeostasis (GO:0045454)|glycerol ether metabolic process (GO:0006662)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	acrosomal vesicle (GO:0001669)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|sperm flagellum (GO:0036126)		p.T8R(1)		endometrium(1)|large_intestine(1)|lung(1)|prostate(1)	4						AATACTTGCCGTGTCTTTAAT	0.368																																						ENST00000374507.4																			1	Substitution - Missense(1)	p.T8R(1)	lung(1)	endometrium(1)|large_intestine(1)|lung(1)|prostate(1)	4						c.e1+1		thioredoxin domain containing 8 (spermatozoa)							114	112	113					9																	113100054		2203	4300	6503	SO:0001630	splice_region_variant	255220				cell differentiation|cell redox homeostasis|glycerol ether metabolic process|multicellular organismal development|spermatogenesis	Golgi apparatus	electron carrier activity|protein disulfide oxidoreductase activity	g.chr9:113100054G>A	BC035743	CCDS35104.1, CCDS69639.1, CCDS75872.1	9q31.3	2007-08-16	2007-08-16	2007-08-16	ENSG00000204193	ENSG00000204193			31454	protein-coding gene	gene with protein product	"sperm-specific thioredoxin 3"						Standard	XM_005251879		Approved	bA427L11.2, TRX6, SPTRX-3	uc004bes.3	Q6A555	OTTHUMG00000020481	ENST00000374511.3:c.24+1C>T	9.37:g.113100054G>A						TXNDC8_ENST00000374510.4_Splice_Site_p.T8_splice|TXNDC8_ENST00000423740.2_Splice_Site_p.T8_splice|TXNDC8_ENST00000374511.3_Splice_Site_p.T8_splice	p.T8_splice			Q6A555	TXND8_HUMAN			1	73	-			8			Thioredoxin.		A1L4I2|A6NDK7|Q5T934	Splice_Site	SNP	ENST00000374511.3	37	c.24_splice		.	.	.	.	.	.	.	.	.	.	A	2.415	-0.334552	0.05278	.	.	ENSG00000204193	ENST00000374511;ENST00000374510;ENST00000423740;ENST00000374507	T;T;T;T	0.03441	3.93;3.93;3.93;3.93	4.81	-3.68	0.04463	.	2.361900	0.01538	N	0.019097	T	0.01870	0.0059	N	0.02192	-0.645	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.14023	0.002;0.01	T	0.44892	-0.9298	10	0.41790	T	0.15	7.4197	5.4666	0.16646	0.2647:0.0:0.4584:0.2769	.	8;8	B7ZME0;Q6A555-2	.;.	M	8	ENSP00000363635:T8M;ENSP00000363634:T8M;ENSP00000408768:T8M;ENSP00000363631:T8M	ENSP00000363631:T8M	T	-	2	0	TXNDC8	112139875	0.404000	0.25328	0.002000	0.10522	0.004000	0.04260	-0.048000	0.11944	-1.405000	0.02048	-0.972000	0.02603	ACG		0.368	TXNDC8-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_001003936	Missense_Mutation	10	22	0	0	0	1	0	10	22					A	113100054	G	A	113100054	5	1	435	1	0	0	0	0	0	0	1	0	16798	1159	40	1	348	1	TXNDC8	9	113100054	Splice_Site	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	1338526	113100054	28113377	4384	25309											
SVEP1	79987	broad.mit.edu	37	chr9	113168745	113168745	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cactggccatcggcttcacaGgtgatttcagaaagtcctag	10	10	10	11	1	2	2	2	1	0	1	4	2	3	2	2	3	0	1	2	3	2	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:113168745G>T	ENST00000401783.2	-	38	9471	c.9135C>A	c.(9133-9135)acC>acA	p.T3045T	SVEP1_ENST00000297826.5_Silent_p.T971T|SVEP1_ENST00000374469.1_Silent_p.T3022T	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	3045	Sushi 27. {ECO:0000255|PROSITE- ProRule:PRU00302}.				cell adhesion (GO:0007155)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|chromatin binding (GO:0003682)			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						CGGCTTCACAGGTGATTTCAG	0.483																																						ENST00000401783.2																			0				NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						c.(9133-9135)acC>acA		sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1							45	46	46					9																	113168745		1922	4140	6062	SO:0001819	synonymous_variant	79987				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding	g.chr9:113168745G>T	AK027870		9q31-q32	2008-02-05	2005-03-15	2005-03-17	ENSG00000165124	ENSG00000165124			15985	protein-coding gene	gene with protein product		611691	"chromosome 9 open reading frame 13"	C9orf13			Standard	NM_153366		Approved	bA427L11.3, POLYDOM, FLJ13529	uc010mtz.3	Q4LDE5	OTTHUMG00000020482	ENST00000401783.2:c.9135C>A	9.37:g.113168745G>T						SVEP1_ENST00000297826.5_Silent_p.T971T|SVEP1_ENST00000374469.1_Silent_p.T3022T	p.T3045T	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN			38	9471	-			3045			Sushi 27.		Q0P675|Q5D213|Q5T938|Q5VTE4|Q5VTE5|Q7Z387|Q7Z3G3|Q8NBT9|Q96JU7|Q9H284|Q9H8J9	Silent	SNP	ENST00000401783.2	37	c.9135C>A	CCDS48004.1																																																																																				0.483	SVEP1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				14	28	1	0	1.49906e-05	1	1.54943e-05	14	28					T	113168745	G	T	113168745	2	4	435	1	0	0	0	0	0	0	0	1	15417	987	35	5		5	SVEP1	9	113168745	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	68691	113168745	28044686	4385	25310											
SVEP1	79987	broad.mit.edu	37	chr9	113192566	113192566	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	aaacatacctttacaatatgGtattagatgattccattctc	14	15	4	8	0	1	2	0	1	1	1	3	2	2	2	2	1	3	1	2	1	7	8			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:113192566G>A	ENST00000401783.2	-	33	5854	c.5518C>T	c.(5518-5520)Cca>Tca	p.P1840S	SVEP1_ENST00000297826.5_5'Flank|SVEP1_ENST00000374469.1_Missense_Mutation_p.P1817S	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	1840	Sushi 7. {ECO:0000255|PROSITE- ProRule:PRU00302}.				cell adhesion (GO:0007155)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|chromatin binding (GO:0003682)			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						TTACAATATGGTATTAGATGA	0.373																																						ENST00000401783.2																			0				NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						c.(5518-5520)Cca>Tca		sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1							83	77	79					9																	113192566		1887	4105	5992	SO:0001583	missense	79987				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding	g.chr9:113192566G>A	AK027870		9q31-q32	2008-02-05	2005-03-15	2005-03-17	ENSG00000165124	ENSG00000165124			15985	protein-coding gene	gene with protein product		611691	"chromosome 9 open reading frame 13"	C9orf13			Standard	NM_153366		Approved	bA427L11.3, POLYDOM, FLJ13529	uc010mtz.3	Q4LDE5	OTTHUMG00000020482	ENST00000401783.2:c.5518C>T	9.37:g.113192566G>A	ENSP00000384917:p.Pro1840Ser					SVEP1_ENST00000374469.1_Missense_Mutation_p.P1817S	p.P1840S	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN			33	5854	-			1840			Sushi 7.		Q0P675|Q5D213|Q5T938|Q5VTE4|Q5VTE5|Q7Z387|Q7Z3G3|Q8NBT9|Q96JU7|Q9H284|Q9H8J9	Missense_Mutation	SNP	ENST00000401783.2	37	c.5518C>T	CCDS48004.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.272203	0.80469	.	.	ENSG00000165124	ENST00000401783;ENST00000374469	T;T	0.76968	-1.06;-1.06	5.27	5.27	0.74061	Complement control module (2);Sushi/SCR/CCP (3);	0.101573	0.64402	D	0.000002	D	0.91365	0.7276	H	0.96861	3.895	0.80722	D	1	D	0.58268	0.982	P	0.59825	0.864	D	0.93257	0.6640	10	0.52906	T	0.07	.	19.0978	0.93260	0.0:0.0:1.0:0.0	.	1840	Q4LDE5	SVEP1_HUMAN	S	1840;1817	ENSP00000384917:P1840S;ENSP00000363593:P1817S	ENSP00000363593:P1817S	P	-	1	0	SVEP1	112232387	1.000000	0.71417	0.167000	0.22817	0.918000	0.54935	7.970000	0.88000	2.735000	0.93741	0.655000	0.94253	CCA		0.373	SVEP1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				3	7	0	0	0	1	0	3	7					A	113192566	G	A	113192566	3	1	435	1	0	0	0	0	1	0	0	0	15417	1261	44	3	5261	3	SVEP1	9	113192566	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	23821	113192566	28020865	4386	25311											
SVEP1	79987	broad.mit.edu	37	chr9	113194840	113194840	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cattgttgcactggtaggttActgtgctgccagcatagaag	9	12	12	8	0	0	1	0	0	0	1	0	1	0	1	1	2	5	6	1	2	4	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:113194840A>G	ENST00000401783.2	-	31	5471	c.5135T>C	c.(5134-5136)gTa>gCa	p.V1712A	SVEP1_ENST00000374469.1_Missense_Mutation_p.V1689A	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	1712	Sushi 6. {ECO:0000255|PROSITE- ProRule:PRU00302}.				cell adhesion (GO:0007155)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|chromatin binding (GO:0003682)			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						CTGGTAGGTTACTGTGCTGCC	0.502																																						ENST00000401783.2																			0				NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						c.(5134-5136)gTa>gCa		sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1							140	137	138					9																	113194840		1972	4145	6117	SO:0001583	missense	79987				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding	g.chr9:113194840A>G	AK027870		9q31-q32	2008-02-05	2005-03-15	2005-03-17	ENSG00000165124	ENSG00000165124			15985	protein-coding gene	gene with protein product		611691	"chromosome 9 open reading frame 13"	C9orf13			Standard	NM_153366		Approved	bA427L11.3, POLYDOM, FLJ13529	uc010mtz.3	Q4LDE5	OTTHUMG00000020482	ENST00000401783.2:c.5135T>C	9.37:g.113194840A>G	ENSP00000384917:p.Val1712Ala					SVEP1_ENST00000374469.1_Missense_Mutation_p.V1689A	p.V1712A	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN			31	5471	-			1712			Sushi 6.		Q0P675|Q5D213|Q5T938|Q5VTE4|Q5VTE5|Q7Z387|Q7Z3G3|Q8NBT9|Q96JU7|Q9H284|Q9H8J9	Missense_Mutation	SNP	ENST00000401783.2	37	c.5135T>C	CCDS48004.1	.	.	.	.	.	.	.	.	.	.	A	32	5.167659	0.94768	.	.	ENSG00000165124	ENST00000401783;ENST00000374469	T;T	0.70399	-0.48;-0.48	5.81	5.81	0.92471	Complement control module (2);Sushi/SCR/CCP (3);	0.058618	0.64402	D	0.000002	T	0.81143	0.4761	L	0.58101	1.795	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.78406	-0.2216	10	0.27785	T	0.31	.	16.1699	0.81801	1.0:0.0:0.0:0.0	.	1712	Q4LDE5	SVEP1_HUMAN	A	1712;1689	ENSP00000384917:V1712A;ENSP00000363593:V1689A	ENSP00000363593:V1689A	V	-	2	0	SVEP1	112234661	1.000000	0.71417	0.986000	0.45419	0.981000	0.71138	8.960000	0.93117	2.217000	0.71921	0.533000	0.62120	GTA		0.502	SVEP1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				16	66	0	0	0	1	0	16	66					G	113194840	A	G	113194840	3	3	435	1	0	0	0	0	1	0	0	0	15417	391	14	4	5652	4	SVEP1	9	113194840	Missense_Mutation	SNP	A	TCGA-XK-AAIW-01A-11D-A41K-08	2274	113194840	28018591	4387	25312											
SVEP1	79987	broad.mit.edu	37	chr9	113208265	113208265	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagcatgccatctagcatgaCatatccatagatgccagaaa	15	8	8	10	0	1	3	0	1	1	2	2	4	2	3	3	0	4	2	3	0	4	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:113208265C>T	ENST00000401783.2	-	26	4651	c.4315G>A	c.(4315-4317)Gtc>Atc	p.V1439I	SVEP1_ENST00000467821.1_5'UTR|SVEP1_ENST00000302728.8_Missense_Mutation_p.V1439I|SVEP1_ENST00000374469.1_Missense_Mutation_p.V1416I	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	1439	Pentaxin.				cell adhesion (GO:0007155)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|chromatin binding (GO:0003682)			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						TCTAGCATGACATATCCATAG	0.433																																						ENST00000401783.2																			0				NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						c.(4315-4317)Gtc>Atc		sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1							101	95	97					9																	113208265		1922	4139	6061	SO:0001583	missense	79987				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding	g.chr9:113208265C>T	AK027870		9q31-q32	2008-02-05	2005-03-15	2005-03-17	ENSG00000165124	ENSG00000165124			15985	protein-coding gene	gene with protein product		611691	"chromosome 9 open reading frame 13"	C9orf13			Standard	NM_153366		Approved	bA427L11.3, POLYDOM, FLJ13529	uc010mtz.3	Q4LDE5	OTTHUMG00000020482	ENST00000401783.2:c.4315G>A	9.37:g.113208265C>T	ENSP00000384917:p.Val1439Ile					SVEP1_ENST00000302728.8_Missense_Mutation_p.V1439I|SVEP1_ENST00000374469.1_Missense_Mutation_p.V1416I|SVEP1_ENST00000467821.1_5'UTR	p.V1439I	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN			26	4651	-			1439			Pentaxin.		Q0P675|Q5D213|Q5T938|Q5VTE4|Q5VTE5|Q7Z387|Q7Z3G3|Q8NBT9|Q96JU7|Q9H284|Q9H8J9	Missense_Mutation	SNP	ENST00000401783.2	37	c.4315G>A	CCDS48004.1	.	.	.	.	.	.	.	.	.	.	C	14.38	2.519086	0.44866	.	.	ENSG00000165124	ENST00000401783;ENST00000374469;ENST00000302728	T;T;T	0.75477	0.19;0.19;-0.94	5.5	4.6	0.57074	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);	0.111161	0.64402	N	0.000011	T	0.75693	0.3884	M	0.73598	2.24	0.34461	D	0.701743	B;B	0.23442	0.014;0.085	B;B	0.28916	0.028;0.096	T	0.80736	-0.1249	10	0.52906	T	0.07	.	14.6806	0.69015	0.0:0.9297:0.0:0.0703	.	1439;1439	E9PBN8;Q4LDE5	.;SVEP1_HUMAN	I	1439;1416;1439	ENSP00000384917:V1439I;ENSP00000363593:V1416I;ENSP00000304118:V1439I	ENSP00000304118:V1439I	V	-	1	0	SVEP1	112248086	1.000000	0.71417	0.432000	0.26747	0.253000	0.25986	5.746000	0.68681	1.465000	0.48006	0.655000	0.94253	GTC		0.433	SVEP1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				9	12	0	0	0	1	0	9	12					T	113208265	C	T	113208265	3	4	435	1	0	0	0	0	1	0	0	0	15417	478	17	3	6492	3	SVEP1	9	113208265	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	13425	113208265	28005166	4388	25313											
PTGR1	22949	broad.mit.edu	37	chr9	114359602	114359602	+	Frame_Shift_Del	DEL	T	T	-																															tttagtatgacttacctccaTtttttaagggtgggagctca																										TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:114359602delT	ENST00000407693.2	-	2	363	c.101delA	c.(100-102)aatfs	p.N34fs	PTGR1_ENST00000538962.1_Frame_Shift_Del_p.N34fs|PTGR1_ENST00000309195.5_Frame_Shift_Del_p.N34fs|PTGR1_ENST00000238248.3_De_novo_Start_InFrame	NM_001146108.1	NP_001139580.1	Q14914	PTGR1_HUMAN	prostaglandin reductase 1	34					arachidonic acid metabolic process (GO:0019369)|cyclooxygenase pathway (GO:0019371)|leukotriene metabolic process (GO:0006691)|lipoxin metabolic process (GO:2001300)|response to toxic substance (GO:0009636)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	13-prostaglandin reductase activity (GO:0036132)|15-oxoprostaglandin 13-oxidase activity (GO:0047522)|2-alkenal reductase [NAD(P)] activity (GO:0032440)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(5)|lung(3)|ovary(1)	11						CTTACCTCCATTTTTTAAGGG	0.398																																					Ovarian(200;132 2151 7551 19220 46064)	ENST00000238248.3																			0				endometrium(2)|large_intestine(5)|lung(3)|ovary(1)	11								prostaglandin reductase 1							87	82	84					9																	114359602		2203	4300	6503	SO:0001589	frameshift_variant	22949				leukotriene metabolic process	cytoplasm	15-oxoprostaglandin 13-oxidase activity|2-alkenal reductase activity|alcohol dehydrogenase (NAD) activity|zinc ion binding	g.chr9:114359602delT	D49387	CCDS6779.1, CCDS55331.1	9q32	2008-06-04	2008-06-02	2008-06-02	ENSG00000106853	ENSG00000106853	1.3.1.74, 1.3.1.48		18429	protein-coding gene	gene with protein product	"zinc binding alcohol dehydrogenase domain containing 3"	601274	"leukotriene B4 12-hydroxydehydrogenase"	LTB4DH		8576264, 17449869	Standard	NM_001146109		Approved	ZADH3	uc004bfh.2	Q14914	OTTHUMG00000020493	ENST00000407693.2:c.101delA	9.37:g.114359602delT	ENSP00000385763:p.Asn34fs					PTGR1_ENST00000309195.5_Frame_Shift_Del_p.N34fs|PTGR1_ENST00000538962.1_Frame_Shift_Del_p.N34fs|PTGR1_ENST00000407693.2_Frame_Shift_Del_p.N34fs				Q14914	PTGR1_HUMAN			0	363	-								A8K0N2|B4DPK3|F5GY50|Q8IYQ0|Q9H1X6	Translation_Start_Site	DEL	ENST00000407693.2	37		CCDS6779.1																																																																																				0.398	PTGR1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053647.2			20	25						20	25	---	---	---	---	-	114359602	T	-	114359602	7	5	435	1	0	1	0	1	0	0	0	0	12753	1493	52	0	955	0	PTGR1	9	114359602	Frame_Shift_Del	DEL	T	TCGA-XK-AAIW-01A-11D-A41K-08	1151337	114359602	26853829	4389	25314											
ROD1	9991	broad.mit.edu	37	chr9	115024862	115024862	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tggacggcactgacagcctgCagtgcagcttgggctcgcta	7	8	14	12	2	0	1	0	1	0	0	1	2	0	2	1	3	4	6	1	3	1	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:115024862C>T	ENST00000374255.2	-	6	600	c.453G>A	c.(451-453)ctG>ctA	p.L151L	PTBP3_ENST00000334318.6_Silent_p.L154L|PTBP3_ENST00000374257.1_Silent_p.L123L|PTBP3_ENST00000487997.1_5'UTR|PTBP3_ENST00000458258.1_Silent_p.L157L|PTBP3_ENST00000343327.2_Silent_p.L56L			O95758	PTBP3_HUMAN	polypyrimidine tract binding protein 3	151					anatomical structure morphogenesis (GO:0009653)|erythrocyte maturation (GO:0043249)|mRNA processing (GO:0006397)|negative regulation of RNA splicing (GO:0033119)|regulation of cell differentiation (GO:0045595)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)										TGACAGCCTGCAGTGCAGCTT	0.458																																						ENST00000334318.6																			0											c.(460-462)ctG>ctA		polypyrimidine tract binding protein 3							47	47	47					9																	115024862		2203	4300	6503	SO:0001819	synonymous_variant	9991				anatomical structure morphogenesis|mRNA processing	nucleus	nucleotide binding|RNA binding	g.chr9:115024862C>T	AB023967	CCDS6784.1, CCDS55332.1, CCDS55333.1, CCDS59140.1, CCDS59141.1	9q32	2013-07-16	2011-11-16	2011-11-16	ENSG00000119314	ENSG00000119314		"RNA binding motif (RRM) containing"	10253	protein-coding gene	gene with protein product		607527	"regulator of differentiation (in S. pombe) 1", "ROD1 regulator of differentiation 1 (S. pombe)"	ROD1		10207106	Standard	NM_005156		Approved	DKFZp781I1117	uc004bfx.3	O95758	OTTHUMG00000020503	ENST00000374255.2:c.453G>A	9.37:g.115024862C>T						PTBP3_ENST00000343327.2_Silent_p.L56L|PTBP3_ENST00000487997.1_5'UTR|PTBP3_ENST00000458258.1_Silent_p.L157L|PTBP3_ENST00000374255.2_Silent_p.L151L|PTBP3_ENST00000374257.1_Silent_p.L123L	p.L154L	NM_001163790.2|NM_005156.6	NP_001157262.1|NP_005147.3	O95758	ROD1_HUMAN			6	648	-			151					B1ALY2|B1ALY3|B1ALY5|B1ALY6|B3KME7|Q68DB9|Q86YB3|Q86YH9	Silent	SNP	ENST00000374255.2	37	c.462G>A	CCDS6784.1																																																																																				0.458	PTBP3-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000053679.1			15	21	0	0	0	1	0	15	21					T	115024862	C	T	115024862	2	4	435	1	0	0	0	0	0	0	0	1	13519	697	25	3		3	ROD1	9	115024862	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	665260	115024862	26188569	4390	25315											
HSDL2	84263	broad.mit.edu	37	chr9	115166427	115166427	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tctaggcacaatctatactgCtgctgaagaaagtgagtgtg	12	11	11	7	0	2	3	0	2	2	1	2	3	2	3	0	1	3	3	0	1	6	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:115166427C>A	ENST00000398805.3	+	2	397	c.170C>A	c.(169-171)gCt>gAt	p.A57D	HSDL2_ENST00000539114.1_5'UTR|HSDL2_ENST00000262542.7_Intron|HSDL2_ENST00000488101.1_Intron|HSDL2_ENST00000398803.1_Missense_Mutation_p.A57D	NM_032303.4	NP_115679.2	Q6YN16	HSDL2_HUMAN	hydroxysteroid dehydrogenase like 2	57						membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisome (GO:0005777)	oxidoreductase activity (GO:0016491)			NS(1)|breast(2)|cervix(2)|endometrium(1)|large_intestine(2)|lung(2)|prostate(1)|upper_aerodigestive_tract(2)	13						ATCTATACTGCTGCTGAAGAA	0.388																																						ENST00000398805.3																			0				NS(1)|breast(2)|cervix(2)|endometrium(1)|large_intestine(2)|lung(2)|prostate(1)|upper_aerodigestive_tract(2)	13						c.(169-171)gCt>gAt		hydroxysteroid dehydrogenase like 2							83	74	77					9																	115166427		1933	4138	6071	SO:0001583	missense	84263					peroxisome	oxidoreductase activity|sterol binding	g.chr9:115166427C>A	AY093428	CCDS43864.1, CCDS56582.1	9q32	2011-09-14			ENSG00000119471	ENSG00000119471		"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"	18572	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 13C, member 1"		"chromosome 9 open reading frame 99"	C9orf99		12834046, 19027726	Standard	NM_032303		Approved	SDR13C1	uc004bga.2	Q6YN16	OTTHUMG00000020504	ENST00000398805.3:c.170C>A	9.37:g.115166427C>A	ENSP00000381785:p.Ala57Asp					HSDL2_ENST00000398803.1_Missense_Mutation_p.A57D|HSDL2_ENST00000539114.1_5'UTR|HSDL2_ENST00000262542.7_Intron|HSDL2_ENST00000488101.1_Intron	p.A57D	NM_032303.4	NP_115679.2	Q6YN16	HSDL2_HUMAN			2	397	+			57					A8K1L4|A8K8X1|A8MSV3|Q658M8|Q9BT58	Missense_Mutation	SNP	ENST00000398805.3	37	c.170C>A	CCDS43864.1	.	.	.	.	.	.	.	.	.	.	C	34	5.340217	0.95783	.	.	ENSG00000119471	ENST00000398805;ENST00000398803	D;D	0.90732	-2.72;-2.72	6.07	6.07	0.98685	NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.97235	0.9096	H	0.96175	3.78	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.988;0.999	D	0.97127	0.9815	10	0.56958	D	0.05	.	20.6593	0.99626	0.0:1.0:0.0:0.0	.	57;57	Q6YN16-2;Q6YN16	.;HSDL2_HUMAN	D	57	ENSP00000381785:A57D;ENSP00000381783:A57D	ENSP00000381783:A57D	A	+	2	0	HSDL2	114206248	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.689000	0.84165	2.885000	0.99019	0.655000	0.94253	GCT		0.388	HSDL2-002	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053681.1	NM_032303		20	38	1	0	1.56452e-12	1	1.69366e-12	20	38					A	115166427	C	A	115166427	3	1	435	1	0	0	0	0	1	0	0	0	7394	797	28	5	176	5	HSDL2	9	115166427	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	141565	115166427	26047004	4391	25316											
KIAA1958	158405	broad.mit.edu	37	chr9	115336493	115336493	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaggttcccatgggaacctgAcagcaatgtggggctgtagt	10	9	14	8	0	0	1	0	1	0	0	1	2	1	2	2	4	2	4	2	4	4	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:115336493A>G	ENST00000337530.6	+	2	429	c.133A>G	c.(133-135)Aca>Gca	p.T45A	KIAA1958_ENST00000374244.3_Missense_Mutation_p.T45A|KIAA1958_ENST00000536272.1_Missense_Mutation_p.T45A	NM_133465.2	NP_597722.1	Q8N8K9	K1958_HUMAN	KIAA1958	45										endometrium(1)|large_intestine(9)|lung(10)|prostate(2)|skin(3)	25						TGGGAACCTGACAGCAATGTG	0.517																																						ENST00000337530.6																			0				endometrium(1)|large_intestine(9)|lung(10)|prostate(2)|skin(3)	25						c.(133-135)Aca>Gca		KIAA1958							60	57	58					9																	115336493		2203	4300	6503	SO:0001583	missense	158405							g.chr9:115336493A>G	AB075838	CCDS35108.1, CCDS69642.1	9q33.1	2009-09-22			ENSG00000165185	ENSG00000165185			23427	protein-coding gene	gene with protein product							Standard	NM_001287038		Approved	FLJ39294	uc004bgf.1	Q8N8K9	OTTHUMG00000020508	ENST00000337530.6:c.133A>G	9.37:g.115336493A>G	ENSP00000336940:p.Thr45Ala					KIAA1958_ENST00000536272.1_Missense_Mutation_p.T45A|KIAA1958_ENST00000374244.3_Missense_Mutation_p.T45A	p.T45A	NM_133465.2	NP_597722.1	Q8N8K9	K1958_HUMAN			2	429	+			45					B7ZKW6|Q2M336|Q5T252|Q8TF43|Q96N02	Missense_Mutation	SNP	ENST00000337530.6	37	c.133A>G	CCDS35108.1	.	.	.	.	.	.	.	.	.	.	A	16.87	3.241135	0.58995	.	.	ENSG00000165185	ENST00000337530;ENST00000374244;ENST00000536272	.	.	.	6.06	6.06	0.98353	.	0.000000	0.85682	D	0.000000	T	0.64238	0.2580	N	0.22421	0.69	0.43394	D	0.995515	D;D	0.64830	0.994;0.976	D;D	0.70716	0.97;0.931	T	0.64837	-0.6313	9	0.41790	T	0.15	-13.8999	16.6127	0.84892	1.0:0.0:0.0:0.0	.	45;45	B7ZKW6;Q8N8K9	.;K1958_HUMAN	A	45	.	ENSP00000336940:T45A	T	+	1	0	KIAA1958	114376314	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	6.076000	0.71267	2.322000	0.78497	0.528000	0.53228	ACA		0.517	KIAA1958-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000053690.1	NM_133465		20	26	0	0	0	1	0	20	26					G	115336493	A	G	115336493	3	3	435	1	0	0	0	0	1	0	0	0	8264	275	10	4	135	4	KIAA1958	9	115336493	Missense_Mutation	SNP	A	TCGA-XK-AAIW-01A-11D-A41K-08	170066	115336493	25876938	4392	25317											
FKBP15	23307	broad.mit.edu	37	chr9	115935780	115935780	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctggtaggcatctctctgtgCgcacacctcctggtactgct	5	12	10	14	1	2	0	0	0	2	0	4	0	3	0	2	3	3	5	2	3	2	2	rs368555848		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:115935780C>T	ENST00000238256.3	-	23	2602	c.2485G>A	c.(2485-2487)Gca>Aca	p.A829T		NM_015258.1	NP_056073.1	Q5T1M5	FKB15_HUMAN	FK506 binding protein 15, 133kDa	829					endocytosis (GO:0006897)|negative regulation of phosphatase activity (GO:0010923)|protein folding (GO:0006457)	actin filament (GO:0005884)|axon (GO:0030424)|endosome (GO:0005768)|growth cone (GO:0030426)|membrane (GO:0016020)				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(9)|ovary(3)|urinary_tract(1)	26						TCTCTCTGTGCGCACACCTCC	0.488																																						ENST00000238256.3																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(9)|ovary(3)|urinary_tract(1)	26						c.(2485-2487)Gca>Aca		FK506 binding protein 15, 133kDa		C	THR/ALA	0,4030		0,0,2015	86	85	85		2485	3.3	0.9	9		85	1,8357		0,1,4178	no	missense	FKBP15	NM_015258.1	58	0,1,6193	TT,TC,CC		0.012,0.0,0.0081	benign	829/1220	115935780	1,12387	2015	4179	6194	SO:0001583	missense	23307				endocytosis|protein folding	axon|early endosome	actin binding	g.chr9:115935780C>T	AB014574	CCDS48007.1	9q33.1	2014-05-09	2006-10-31	2006-10-31	ENSG00000119321	ENSG00000119321		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	23397	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 76", "WASP and FKBP-like protein"		"KIAA0674"	KIAA0674		16756961, 20376207	Standard	NM_015258		Approved	PPP1R76, FKBP133, WAFL	uc004bgs.2	Q5T1M5	OTTHUMG00000020518	ENST00000238256.3:c.2485G>A	9.37:g.115935780C>T	ENSP00000238256:p.Ala829Thr						p.A829T	NM_015258.1	NP_056073.1	Q5T1M5	FKB15_HUMAN			23	2602	-			829					Q05DK8|Q5T1M2|Q6DD85|Q9Y4D0	Missense_Mutation	SNP	ENST00000238256.3	37	c.2485G>A	CCDS48007.1	.	.	.	.	.	.	.	.	.	.	c	12.74	2.029378	0.35797	0.0	1.2E-4	ENSG00000119321	ENST00000446284;ENST00000238256	T;T	0.22945	1.93;1.94	5.16	3.32	0.38043	.	.	.	.	.	T	0.14657	0.0354	L	0.33485	1.01	0.24350	N	0.994927	B;B	0.31817	0.341;0.017	B;B	0.19148	0.024;0.004	T	0.21449	-1.0245	9	0.12430	T	0.62	-4.2211	8.1013	0.30859	0.0:0.8137:0.0:0.1863	.	410;829	B4DVS2;Q5T1M5	.;FKB15_HUMAN	T	854;829	ENSP00000416158:A854T;ENSP00000238256:A829T	ENSP00000238256:A829T	A	-	1	0	FKBP15	114975601	0.912000	0.30974	0.863000	0.33907	0.968000	0.65278	2.767000	0.47637	0.690000	0.31570	0.651000	0.88453	GCA		0.488	FKBP15-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_015258		23	30	0	0	0	1	0	23	30					T	115935780	C	T	115935780	3	4	435	1	0	0	0	0	1	0	0	0	5905	768	27	1	1198	1	FKBP15	9	115935780	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	599287	115935780	25277651	4393	25318											
PRPF4	9128	broad.mit.edu	37	chr9	116045694	116045694	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaaacgcttggaagaggccCgactccataaggagattcct	12	8	11	10	2	0	3	0	1	0	2	2	6	2	4	3	3	1	1	3	3	3	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:116045694C>T	ENST00000374198.4	+	6	691	c.589C>T	c.(589-591)Cga>Tga	p.R197*	PRPF4_ENST00000374199.4_Nonsense_Mutation_p.R196*	NM_001244926.1|NM_004697.4	NP_001231855.1|NP_004688.2	O43172	PRP4_HUMAN	pre-mRNA processing factor 4	197					gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	Cajal body (GO:0015030)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U4/U6 snRNP (GO:0071001)		p.R197*(1)		NS(1)|breast(2)|endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|prostate(2)	23						GGAAGAGGCCCGACTCCATAA	0.522																																						ENST00000374199.4																			1	Substitution - Nonsense(1)	p.R197*(1)	large_intestine(1)	NS(1)|breast(2)|endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|prostate(2)	23						c.(586-588)Cga>Tga		pre-mRNA processing factor 4							83	83	83					9																	116045694		2203	4300	6503	SO:0001587	stop_gained	9128					Cajal body|nuclear speck|spliceosomal complex|U4/U6 snRNP	protein binding	g.chr9:116045694C>T	AF001687	CCDS6791.1, CCDS59142.1	9q31-q33	2013-10-03	2013-10-03		ENSG00000136875	ENSG00000136875		"WD repeat domain containing"	17349	protein-coding gene	gene with protein product	"PRP4/STK/WD splicing factor", "U4/U6 small nuclear ribonucleoprotein Prp4"	607795	"PRP4 pre-mRNA processing factor 4 homolog (yeast)"			9257651, 9404889	Standard	NM_004697		Approved	Prp4p, HPRP4, HPRP4P, PRP4, SNRNP60	uc004bgx.3	O43172	OTTHUMG00000020517	ENST00000374198.4:c.589C>T	9.37:g.116045694C>T	ENSP00000363313:p.Arg197*					PRPF4_ENST00000374198.4_Nonsense_Mutation_p.R197*	p.R196*			O43172	PRP4_HUMAN			6	987	+			197					O43445|O43864|Q5T1M8|Q96DG2|Q96IK4	Nonsense_Mutation	SNP	ENST00000374198.4	37	c.586C>T	CCDS6791.1	.	.	.	.	.	.	.	.	.	.	C	39	7.605970	0.98387	.	.	ENSG00000136875	ENST00000374199;ENST00000374198	.	.	.	5.35	5.35	0.76521	.	0.059609	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.104	0.59237	0.16:0.84:0.0:0.0	.	.	.	.	X	196;197	.	ENSP00000363313:R197X	R	+	1	2	PRPF4	115085515	0.998000	0.40836	1.000000	0.80357	0.944000	0.59088	3.332000	0.52083	2.503000	0.84419	0.563000	0.77884	CGA		0.522	PRPF4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053708.2	NM_004697		8	33	0	0	0	1	0	8	33					T	116045694	C	T	116045694	4	4	435	1	0	0	0	0	0	1	0	0	12570	644	23	2	611	2	PRPF4	9	116045694	Nonsense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	109914	116045694	25167737	4394	25319											
WDR31	114987	broad.mit.edu	37	chr9	116082637	116082637	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gacctcacacagtctcctacCgtggcttcacagccttctcc	7	10	6	18	1	4	0	2	0	2	0	6	1	4	0	5	1	2	1	5	1	1	3	rs148709910		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:116082637C>T	ENST00000374193.4	-	9	1026	c.780G>A	c.(778-780)acG>acA	p.T260T	WDR31_ENST00000374195.3_Splice_Site_p.T135T|WDR31_ENST00000341761.4_Splice_Site_p.T259T|WDR31_ENST00000461942.1_5'UTR	NM_001012361.2|NM_145241.3	NP_001012361.1|NP_660284.1	Q8NA23	WDR31_HUMAN	WD repeat domain 31	260								p.T260T(1)		NS(1)|large_intestine(1)|lung(2)|prostate(2)	6						AGTCTCCTACCGTGGCTTCAC	0.517													C|||	1	0.000199681	8e-04	0	5008	,	,		20911	0		0	False		,,,				2504	0					ENST00000374193.4																			1	Substitution - coding silent(1)	p.T260T(1)	lung(1)	NS(1)|large_intestine(1)|lung(2)|prostate(2)	6						c.e9+1		WD repeat domain 31		C	,	3,4403	8.1+/-20.4	0,3,2200	112	99	104		780,777	2	1	9	dbSNP_134	104	0,8600		0,0,4300	no	coding-synonymous-near-splice,coding-synonymous-near-splice	WDR31	NM_001012361.2,NM_145241.3	,	0,3,6500	TT,TC,CC		0.0,0.0681,0.0231	,	260/368,259/367	116082637	3,13003	2203	4300	6503	SO:0001630	splice_region_variant	114987							g.chr9:116082637C>T	BC012352	CCDS6792.1, CCDS35110.1	9q33.1	2013-01-09			ENSG00000148225	ENSG00000148225		"WD repeat domain containing"	21421	protein-coding gene	gene with protein product	"similar to spermatid WD-repeat protein"						Standard	NM_145241		Approved	FLJ35921	uc004bhb.3	Q8NA23	OTTHUMG00000020525	ENST00000374193.4:c.780+1G>A	9.37:g.116082637C>T						WDR31_ENST00000374195.3_Splice_Site_p.T135_splice|WDR31_ENST00000461942.1_5'UTR|WDR31_ENST00000341761.4_Splice_Site_p.T259_splice	p.T260_splice	NM_001012361.2|NM_145241.3	NP_001012361.1|NP_660284.1	Q8NA23	WDR31_HUMAN			9	1026	-			260					Q5W0T9|Q96EG8	Splice_Site	SNP	ENST00000374193.4	37	c.780_splice	CCDS35110.1																																																																																				0.517	WDR31-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053734.2	NM_145241	Silent	18	31	0	0	0	1	0	18	31					T	116082637	C	T	116082637	5	4	435	1	0	0	0	0	0	0	1	0	17283	666	23	2	335	2	WDR31	9	116082637	Splice_Site	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	36943	116082637	25130794	4395	25320											
RGS3	5998	broad.mit.edu	37	chr9	116346414	116346414	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acaccagcgatgacaactacGgagagcgcagtgaggccaag	14	3	13	11	3	0	3	0	2	0	1	0	5	0	3	2	2	4	1	2	2	3	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:116346414G>A	ENST00000374140.2	+	21	2931	c.2722G>A	c.(2722-2724)Gga>Aga	p.G908R	RGS3_ENST00000350696.5_Missense_Mutation_p.G908R|RGS3_ENST00000343817.5_Missense_Mutation_p.G627R|RP11-168K11.2_ENST00000428429.1_RNA|RGS3_ENST00000394646.3_Intron|RGS3_ENST00000342620.5_Intron|RGS3_ENST00000462143.1_Missense_Mutation_p.G229R|RGS3_ENST00000374134.3_Missense_Mutation_p.G229R	NM_001282923.1|NM_144488.4	NP_001269852.1|NP_652759.3	P49796	RGS3_HUMAN	regulator of G-protein signaling 3	908					inactivation of MAPK activity (GO:0000188)|positive regulation of GTPase activity (GO:0043547)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)			cervix(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	48						TGACAACTACGGAGAGCGCAG	0.657																																						ENST00000374140.2																			0				cervix(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	48						c.(2722-2724)Gga>Aga		regulator of G-protein signaling 3							127	96	107					9																	116346414		2203	4300	6503	SO:0001583	missense	5998				inactivation of MAPK activity|regulation of G-protein coupled receptor protein signaling pathway	cytosol|nucleus|plasma membrane	GTPase activator activity|signal transducer activity	g.chr9:116346414G>A	AF006610	CCDS6797.1, CCDS6798.1, CCDS35113.1, CCDS35114.1, CCDS43869.1, CCDS65111.1	9q32	2008-02-05	2007-08-14		ENSG00000138835	ENSG00000138835		"Regulators of G-protein signaling"	9999	protein-coding gene	gene with protein product		602189	"regulator of G-protein signalling 3"			8602223, 11034339	Standard	NM_001276260		Approved	C2PA, FLJ20370, PDZ-RGS3	uc004bhq.4	P49796	OTTHUMG00000021048	ENST00000374140.2:c.2722G>A	9.37:g.116346414G>A	ENSP00000363255:p.Gly908Arg					RP11-168K11.2_ENST00000428429.1_RNA|RGS3_ENST00000343817.5_Missense_Mutation_p.G627R|RGS3_ENST00000394646.3_Intron|RGS3_ENST00000342620.5_Intron|RGS3_ENST00000462143.1_Missense_Mutation_p.G229R|RGS3_ENST00000374134.3_Missense_Mutation_p.G229R|RGS3_ENST00000350696.5_Missense_Mutation_p.G908R	p.G908R	NM_144488.4	NP_652759.3	P49796	RGS3_HUMAN			21	2931	+			908					A6NHA0|A8K0V1|B3KUB2|Q5VXB8|Q5VXC1|Q5VZ05|Q5VZ06|Q6ZRM5|Q8IUQ1|Q8NC47|Q8NFN4|Q8NFN5|Q8NFN6|Q8TD59|Q8TD68|Q8WV02|Q8WXA0	Missense_Mutation	SNP	ENST00000374140.2	37	c.2722G>A	CCDS43869.1	.	.	.	.	.	.	.	.	.	.	G	13.68	2.308668	0.40895	.	.	ENSG00000138835	ENST00000374140;ENST00000350696;ENST00000343817;ENST00000462143;ENST00000374134	T;T;T;T;T	0.56611	0.96;0.96;0.47;0.45;0.45	5.05	3.12	0.35913	.	0.443666	0.20619	N	0.088805	T	0.53094	0.1775	L	0.27053	0.805	0.80722	D	1	D;B;D;B;B;B	0.76494	0.999;0.021;0.999;0.021;0.022;0.152	D;B;D;B;B;B	0.68192	0.956;0.006;0.935;0.006;0.003;0.007	T	0.51309	-0.8722	10	0.48119	T	0.1	.	6.5867	0.22624	0.1094:0.2782:0.6124:0.0	.	247;804;229;627;798;908	B4DWF9;P49796-6;Q6ZV17;P49796-4;B3KWG8;P49796	.;.;.;.;.;RGS3_HUMAN	R	908;908;627;229;229	ENSP00000363255:G908R;ENSP00000259406:G908R;ENSP00000340284:G627R;ENSP00000420356:G229R;ENSP00000363249:G229R	ENSP00000340284:G627R	G	+	1	0	RGS3	115386235	0.984000	0.35163	0.023000	0.16930	0.934000	0.57294	2.209000	0.42806	1.087000	0.41251	0.455000	0.32223	GGA		0.657	RGS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055561.3	NM_017790		10	19	0	0	0	1	0	10	19					A	116346414	G	A	116346414	3	1	435	1	0	0	0	0	1	0	0	0	13306	1117	39	2	3053	2	RGS3	9	116346414	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	263777	116346414	24867017	4396	25321											
RGS3	5998	broad.mit.edu	37	chr9	116358026	116358026	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatctttgctgaatacatcgCgatccaggcatgcaaggagg	11	9	12	9	2	1	1	0	1	1	0	3	4	2	2	1	3	3	3	1	3	3	2	rs144334750		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:116358026C>T	ENST00000374140.2	+	25	3601	c.3392C>T	c.(3391-3393)gCg>gTg	p.A1131V	RGS3_ENST00000350696.5_Missense_Mutation_p.A1131V|RGS3_ENST00000343817.5_Missense_Mutation_p.A850V|RGS3_ENST00000394646.3_Missense_Mutation_p.A524V|RGS3_ENST00000342620.5_Missense_Mutation_p.A101V|RGS3_ENST00000462403.1_Missense_Mutation_p.A244V|RGS3_ENST00000462143.1_Missense_Mutation_p.A452V|RGS3_ENST00000374134.3_Missense_Mutation_p.A452V	NM_001282923.1|NM_144488.4	NP_001269852.1|NP_652759.3	P49796	RGS3_HUMAN	regulator of G-protein signaling 3	1131	RGS. {ECO:0000255|PROSITE- ProRule:PRU00171}.				inactivation of MAPK activity (GO:0000188)|positive regulation of GTPase activity (GO:0043547)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)			cervix(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	48						GAATACATCGCGATCCAGGCA	0.567																																						ENST00000374140.2																			0				cervix(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	48						c.(3391-3393)gCg>gTg		regulator of G-protein signaling 3		C	VAL/ALA,VAL/ALA,VAL/ALA,VAL/ALA,VAL/ALA	2,4404	4.2+/-10.8	0,2,2201	180	144	156		1355,2549,302,3392,731	5.5	0.5	9	dbSNP_134	156	1,8599	1.2+/-3.3	0,1,4299	yes	missense,missense,missense,missense,missense	RGS3	NM_021106.3,NM_130795.2,NM_134427.1,NM_144488.4,NM_144489.2	64,64,64,64,64	0,3,6500	TT,TC,CC		0.0116,0.0454,0.0231	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	452/520,850/918,101/169,1131/1199,244/312	116358026	3,13003	2203	4300	6503	SO:0001583	missense	5998				inactivation of MAPK activity|regulation of G-protein coupled receptor protein signaling pathway	cytosol|nucleus|plasma membrane	GTPase activator activity|signal transducer activity	g.chr9:116358026C>T	AF006610	CCDS6797.1, CCDS6798.1, CCDS35113.1, CCDS35114.1, CCDS43869.1, CCDS65111.1	9q32	2008-02-05	2007-08-14		ENSG00000138835	ENSG00000138835		"Regulators of G-protein signaling"	9999	protein-coding gene	gene with protein product		602189	"regulator of G-protein signalling 3"			8602223, 11034339	Standard	NM_001276260		Approved	C2PA, FLJ20370, PDZ-RGS3	uc004bhq.4	P49796	OTTHUMG00000021048	ENST00000374140.2:c.3392C>T	9.37:g.116358026C>T	ENSP00000363255:p.Ala1131Val					RGS3_ENST00000343817.5_Missense_Mutation_p.A850V|RGS3_ENST00000394646.3_Missense_Mutation_p.A524V|RGS3_ENST00000462403.1_Missense_Mutation_p.A244V|RGS3_ENST00000342620.5_Missense_Mutation_p.A101V|RGS3_ENST00000462143.1_Missense_Mutation_p.A452V|RGS3_ENST00000374134.3_Missense_Mutation_p.A452V|RGS3_ENST00000350696.5_Missense_Mutation_p.A1131V	p.A1131V	NM_144488.4	NP_652759.3	P49796	RGS3_HUMAN			25	3601	+			1131			RGS.		A6NHA0|A8K0V1|B3KUB2|Q5VXB8|Q5VXC1|Q5VZ05|Q5VZ06|Q6ZRM5|Q8IUQ1|Q8NC47|Q8NFN4|Q8NFN5|Q8NFN6|Q8TD59|Q8TD68|Q8WV02|Q8WXA0	Missense_Mutation	SNP	ENST00000374140.2	37	c.3392C>T	CCDS43869.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.103554	0.76983	4.54E-4	1.16E-4	ENSG00000138835	ENST00000374140;ENST00000350696;ENST00000343817;ENST00000394646;ENST00000474719;ENST00000462143;ENST00000342620;ENST00000374134;ENST00000462403	T;T;T;T;T;T;T;T	0.02323	4.34;4.34;4.34;4.34;4.34;4.34;4.34;4.34	5.46	5.46	0.80206	Regulator of G protein signalling (4);Regulator of G protein signalling superfamily (1);	0.000000	0.64402	D	0.000001	T	0.13457	0.0326	M	0.62266	1.93	0.80722	D	1	D;P;D;D;D;D	0.89917	0.993;0.899;0.996;1.0;1.0;0.997	P;B;P;D;D;P	0.72625	0.488;0.245;0.636;0.966;0.978;0.57	T	0.00804	-1.1559	10	0.39692	T	0.17	.	18.3694	0.90402	0.0:1.0:0.0:0.0	.	524;244;1027;850;1021;1131	B3KUB2;Q5VZ06;P49796-6;P49796-4;B3KWG8;P49796	.;.;.;.;.;RGS3_HUMAN	V	1131;1131;850;524;299;452;101;452;244	ENSP00000363255:A1131V;ENSP00000259406:A1131V;ENSP00000340284:A850V;ENSP00000378141:A524V;ENSP00000420356:A452V;ENSP00000343359:A101V;ENSP00000363249:A452V;ENSP00000436168:A244V	ENSP00000343359:A101V	A	+	2	0	RGS3	115397847	1.000000	0.71417	0.507000	0.27676	0.603000	0.37013	5.778000	0.68940	2.564000	0.86499	0.456000	0.33151	GCG		0.567	RGS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055561.3	NM_017790		15	24	0	0	0	1	0	15	24					T	116358026	C	T	116358026	3	4	435	1	0	0	0	0	1	0	0	0	13306	768	27	1	4162	1	RGS3	9	116358026	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	11612	116358026	24855405	4397	25322											
AMBP	259	broad.mit.edu	37	chr9	116835296	116835296	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aggagagtttccctcagctgCggcgcccgccctgcaaggag	7	6	14	14	3	1	1	1	0	0	1	2	3	2	2	3	3	3	3	3	3	1	1	rs374279851		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:116835296C>T	ENST00000265132.3	-	5	727	c.465G>A	c.(463-465)ccG>ccA	p.P155P		NM_001633.3	NP_001624.1	P02760	AMBP_HUMAN	alpha-1-microglobulin/bikunin precursor	155					cell adhesion (GO:0007155)|female pregnancy (GO:0007565)|heme catabolic process (GO:0042167)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of immune response (GO:0050777)|negative regulation of JNK cascade (GO:0046329)|protein catabolic process (GO:0030163)|protein-chromophore linkage (GO:0018298)|viral process (GO:0016032)	blood microparticle (GO:0072562)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	calcium channel inhibitor activity (GO:0019855)|calcium oxalate binding (GO:0046904)|heme binding (GO:0020037)|IgA binding (GO:0019862)|protein homodimerization activity (GO:0042803)|serine-type endopeptidase inhibitor activity (GO:0004867)|small molecule binding (GO:0036094)			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	11					Human Serum Albumin(DB00062)|Serum albumin iodonated(DB00064)	CCCTCAGCTGCGGCGCCCGCC	0.572																																						ENST00000265132.3																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	11						c.(463-465)ccG>ccA		alpha-1-microglobulin/bikunin precursor	Human Serum Albumin(DB00062)|Serum albumin iodonated(DB00064)	C		0,4406		0,0,2203	56	49	51		465	-9.6	0	9		51	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	AMBP	NM_001633.3		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		155/353	116835296	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	259				cell adhesion|female pregnancy|heme catabolic process|interspecies interaction between organisms|negative regulation of immune response|negative regulation of JNK cascade|protein-chromophore linkage	extracellular region|plasma membrane	calcium channel inhibitor activity|calcium oxalate binding|heme binding|IgA binding|protein homodimerization activity|serine-type endopeptidase inhibitor activity|transporter activity	g.chr9:116835296C>T	X04494	CCDS6800.1	9q32-q33	2014-01-22			ENSG00000106927	ENSG00000106927		"Lipocalins"	453	protein-coding gene	gene with protein product	"growth-inhibiting protein 19", "uristatin", "complex-forming glycoprotein heterogeneous in charge", "bikunin", "inter-alpha-trypsin inhibitor light chain", "protein HC", "uronic-acid-rich protein", "trypstatin"	176870		ITI, ITIL		1708673, 1385302	Standard	NM_001633		Approved	UTI, HCP, EDC1, HI30, IATIL, ITILC	uc004bie.4	P02760	OTTHUMG00000020534	ENST00000265132.3:c.465G>A	9.37:g.116835296C>T							p.P155P	NM_001633.3	NP_001624.1	P02760	AMBP_HUMAN			5	727	-			155					P00977|P02759|P78491|Q2TU33|Q5TBD7|Q9UC58|Q9UDI8	Silent	SNP	ENST00000265132.3	37	c.465G>A	CCDS6800.1																																																																																				0.572	AMBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053758.2	NM_001633		7	8	0	0	0	1	0	7	8					T	116835296	C	T	116835296	2	4	435	1	0	0	0	0	0	0	0	1	564	755	27	1		1	AMBP	9	116835296	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	477270	116835296	24378135	4398	25323											
COL27A1	85301	broad.mit.edu	37	chr9	117072862	117072862	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctggcatcagacactcttcAccttccggacccaagacccc	9	7	7	18	1	3	2	2	0	1	2	4	3	4	3	5	2	0	2	5	2	1	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:117072862A>G	ENST00000356083.3	+	61	5861	c.5470A>G	c.(5470-5472)Acc>Gcc	p.T1824A		NM_032888.2	NP_116277.2	Q8IZC6	CORA1_HUMAN	collagen, type XXVII, alpha 1	1824	Fibrillar collagen NC1. {ECO:0000255|PROSITE-ProRule:PRU00793}.				extracellular matrix organization (GO:0030198)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|fibrillar collagen trimer (GO:0005583)	extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)			central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						GACACTCTTCACCTTCCGGAC	0.532																																						ENST00000356083.3																			0				central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						c.(5470-5472)Acc>Gcc		collagen, type XXVII, alpha 1							182	139	154					9																	117072862		2203	4300	6503	SO:0001583	missense	85301				cell adhesion		extracellular matrix structural constituent	g.chr9:117072862A>G	AB058773	CCDS6802.1	9q33.1	2013-01-16			ENSG00000196739	ENSG00000196739		"Collagens"	22986	protein-coding gene	gene with protein product		608461				12766169	Standard	NM_032888		Approved	KIAA1870, MGC11337, FLJ11895	uc011lxl.2	Q8IZC6	OTTHUMG00000020537	ENST00000356083.3:c.5470A>G	9.37:g.117072862A>G	ENSP00000348385:p.Thr1824Ala						p.T1824A	NM_032888.2	NP_116277.2	Q8IZC6	CORA1_HUMAN			61	5861	+			1824			Fibrillar collagen NC1.		Q66K43|Q96JF7	Missense_Mutation	SNP	ENST00000356083.3	37	c.5470A>G	CCDS6802.1	.	.	.	.	.	.	.	.	.	.	A	9.980	1.227810	0.22542	.	.	ENSG00000196739	ENST00000356083;ENST00000357257	T	0.72615	-0.67	5.63	5.63	0.86233	Fibrillar collagen, C-terminal (4);	.	.	.	.	T	0.71921	0.3397	L	0.42245	1.32	0.27054	N	0.963705	B;D	0.58620	0.372;0.983	B;P	0.54759	0.403;0.76	T	0.62704	-0.6798	9	0.13853	T	0.58	.	13.7947	0.63164	1.0:0.0:0.0:0.0	.	139;1824	Q9HAA3;Q8IZC6	.;CORA1_HUMAN	A	1824;1831	ENSP00000348385:T1824A	ENSP00000348385:T1824A	T	+	1	0	COL27A1	116112683	0.156000	0.22821	1.000000	0.80357	0.985000	0.73830	0.491000	0.22419	2.138000	0.66242	0.459000	0.35465	ACC		0.532	COL27A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053763.1	NM_032888		21	24	0	0	0	1	0	21	24					G	117072862	A	G	117072862	3	3	435	1	0	0	0	0	1	0	0	0	3685	159	6	4	5712	4	COL27A1	9	117072862	Missense_Mutation	SNP	A	TCGA-XK-AAIW-01A-11D-A41K-08	237566	117072862	24140569	4399	25324											
ORM2	5005	broad.mit.edu	37	chr9	117092738	117092738	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctggcaagtggttttatatcGcatcggcctttcgaaacgag	9	12	11	9	4	0	0	0	0	0	0	3	2	0	0	1	3	1	3	1	3	4	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:117092738G>A	ENST00000431067.2	+	2	175	c.139G>A	c.(139-141)Gca>Aca	p.A47T	ORM2_ENST00000412657.1_Missense_Mutation_p.R185H	NM_000608.2	NP_000599.1	P19652	A1AG2_HUMAN	orosomucoid 2	47					acute-phase response (GO:0006953)|regulation of immune system process (GO:0002682)|transport (GO:0006810)	blood microparticle (GO:0072562)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				breast(1)|endometrium(1)|large_intestine(1)|lung(1)|skin(2)|urinary_tract(1)	7		Myeloproliferative disorder(63;0.163)			Chlorpromazine(DB00477)|Oxycodone(DB00497)|Thalidomide(DB01041)	GTTTTATATCGCATCGGCCTT	0.502																																					NSCLC(65;867 1308 1814 2391 12508)	ENST00000412657.1																			0				breast(1)|endometrium(1)|large_intestine(1)|lung(1)|skin(2)|urinary_tract(1)	7						c.(553-555)cGc>cAc		orosomucoid 2							34	55	48					9																	117092738		2191	4298	6489	SO:0001583	missense	5005							g.chr9:117092738G>A		CCDS6804.1	9q32	2013-09-19			ENSG00000228278	ENSG00000228278		"Lipocalins"	8499	protein-coding gene	gene with protein product	"alpha-1-acid glycoprotein, type 2"	138610				4711474, 2970990	Standard	NM_000608		Approved	AGP-B, AGP-B', AGP2		P19652	OTTHUMG00000021014	ENST00000431067.2:c.139G>A	9.37:g.117092738G>A	ENSP00000394936:p.Ala47Thr					ORM2_ENST00000431067.2_Missense_Mutation_p.A47T	p.R185H							1	587	+		Myeloproliferative disorder(63;0.163)						B2R5L2|Q16571|Q5T538|Q6IB74	Missense_Mutation	SNP	ENST00000431067.2	37	c.554G>A	CCDS6804.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	-|-	6.998|6.998	0.554307|0.554307	0.13374|0.13374	.|.	.|.	ENSG00000228278|ENSG00000228278	ENST00000431067|ENST00000412657	T|T	0.12361|0.39229	2.69|1.09	3.11|3.11	2.19|2.19	0.27852|0.27852	Calycin-like (1);Lipocalin/cytosolic fatty-acid binding protein domain (1);Calycin (1);|.	0.496470|.	0.22322|.	N|.	0.061583|.	T|T	0.46132|0.46132	0.1377|0.1377	M|M	0.64997|0.64997	1.995|1.995	0.09310|0.09310	N|N	1|1	P|.	0.48350|.	0.909|.	B|.	0.31442|.	0.13|.	T|T	0.40496|0.40496	-0.9560|-0.9560	10|7	0.72032|0.87932	D|D	0.01|0	-20.2972|-20.2972	6.629|6.629	0.22847|0.22847	0.134:0.0:0.866:0.0|0.134:0.0:0.866:0.0	.|.	47|.	P19652|.	A1AG2_HUMAN|.	T|H	47|185	ENSP00000394936:A47T|ENSP00000407099:R185H	ENSP00000394936:A47T|ENSP00000407099:R185H	A|R	+|+	1|2	0|0	ORM2|ORM2	116132559|116132559	0.047000|0.047000	0.20315|0.20315	0.001000|0.001000	0.08648|0.08648	0.007000|0.007000	0.05969|0.05969	2.466000|2.466000	0.45084|0.45084	0.883000|0.883000	0.36040|0.36040	0.494000|0.494000	0.49563|0.49563	GCA|CGC		0.502	ORM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055432.1	NM_000608		11	46	0	0	0	1	0	11	46					A	117092738	G	A	117092738	3	1	435	1	0	0	0	0	1	0	0	0	11268	1087	38	1	145	1	ORM2	9	117092738	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	19876	117092738	24120693	4400	25325											
DFNB31	25861	broad.mit.edu	37	chr9	117188502	117188502	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tggccagaccctgccgagttCgccatggtctccctgatccg	5	9	11	16	3	1	2	0	1	1	1	4	3	2	2	6	2	1	1	6	2	0	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:117188502C>T	ENST00000362057.3	-	4	1323	c.1155G>A	c.(1153-1155)gcG>gcA	p.A385A	DFNB31_ENST00000265134.6_Silent_p.A2A|DFNB31_ENST00000374059.3_5'Flank	NM_001173425.1|NM_015404.3	NP_001166896.1|NP_056219	Q9P202	WHRN_HUMAN	deafness, autosomal recessive 31	385					inner ear receptor stereocilium organization (GO:0060122)|retina homeostasis (GO:0001895)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	actin filament (GO:0005884)|cilium (GO:0005929)|cytoplasm (GO:0005737)|stereocilia ankle link complex (GO:0002142)|stereocilium (GO:0032420)				central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(14)|ovary(5)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						CTGCCGAGTTCGCCATGGTCT	0.632																																						ENST00000362057.3																			0				central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(14)|ovary(5)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						c.(1153-1155)gcG>gcA		deafness, autosomal recessive 31							56	56	56					9																	117188502		2203	4300	6503	SO:0001819	synonymous_variant	25861				inner ear receptor stereocilium organization|retina homeostasis|sensory perception of light stimulus|sensory perception of sound	cytoplasm|growth cone|stereocilium		g.chr9:117188502C>T	AK056190	CCDS6806.1, CCDS43870.1	9q32	2013-06-19			ENSG00000095397	ENSG00000095397			16361	protein-coding gene	gene with protein product	"whirlin"	607928				12833159, 17171570	Standard	NM_015404		Approved	CIP98, WHRN, USH2D, PDZD7B	uc004biz.4	Q9P202	OTTHUMG00000020539	ENST00000362057.3:c.1155G>A	9.37:g.117188502C>T						DFNB31_ENST00000265134.6_Silent_p.A2A	p.A385A	NM_001173425.1|NM_015404.3	NP_001166896.1|NP_056219.3	Q9P202	WHRN_HUMAN			4	1323	-			385					A5PKU1|A5PKZ9|Q5TAU9|Q5TAV0|Q5TAV1|Q5TAV2|Q96MZ9|Q9H9F4|Q9UFZ3	Silent	SNP	ENST00000362057.3	37	c.1155G>A	CCDS6806.1																																																																																				0.632	DFNB31-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053776.2	NM_015404		13	22	0	0	0	1	0	13	22					T	117188502	C	T	117188502	2	4	435	1	0	0	0	0	0	0	0	1	4455	871	31	2		2	DFNB31	9	117188502	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	95764	117188502	24024929	4401	25326											
C9orf91	203197	broad.mit.edu	37	chr9	117400890	117400890	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggggtgagccctgcaacaGcggaggggcctgagaacttg	8	6	17	10	1	0	2	0	2	0	1	0	4	0	3	2	5	5	1	2	5	2	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:117400890G>T	ENST00000288502.4	+	8	1170	c.733G>T	c.(733-735)Gcg>Tcg	p.A245S	C9orf91_ENST00000374049.4_Missense_Mutation_p.A246S			Q5VZI3	CI091_HUMAN	chromosome 9 open reading frame 91	245						integral component of membrane (GO:0016021)				endometrium(2)|large_intestine(3)|lung(5)|pancreas(1)|skin(1)|urinary_tract(1)	13						CCCTGCAACAGCGGAGGGGCC	0.557																																						ENST00000374049.4																			0				endometrium(2)|large_intestine(3)|lung(5)|pancreas(1)|skin(1)|urinary_tract(1)	13						c.(736-738)Gcg>Tcg		chromosome 9 open reading frame 91							145	130	135					9																	117400890		2203	4300	6503	SO:0001583	missense	203197					integral to membrane		g.chr9:117400890G>T	BX649023	CCDS6808.1	9q33.1	2008-02-05			ENSG00000157693	ENSG00000157693			24513	protein-coding gene	gene with protein product						14702039	Standard	NM_153045		Approved	DKFZp547P234, FLJ38045	uc004bjd.4	Q5VZI3	OTTHUMG00000020541	ENST00000288502.4:c.733G>T	9.37:g.117400890G>T	ENSP00000288502:p.Ala245Ser					C9orf91_ENST00000288502.4_Missense_Mutation_p.A245S	p.A246S	NM_153045.3	NP_694590.2	Q5VZI3	CI091_HUMAN			8	1173	+			245					A0PJA3|Q3KNS4|Q5VZI2|Q6P5Z7|Q8N1P3|Q8ND43	Missense_Mutation	SNP	ENST00000288502.4	37	c.736G>T	CCDS6808.1	.	.	.	.	.	.	.	.	.	.	G	7.223	0.597710	0.13875	.	.	ENSG00000157693	ENST00000374049;ENST00000288502	.	.	.	5.42	2.57	0.30868	.	1.261930	0.05158	N	0.497323	T	0.26702	0.0653	N	0.14661	0.345	0.09310	N	1	B;B	0.22683	0.073;0.03	B;B	0.25291	0.059;0.037	T	0.24657	-1.0154	9	0.11794	T	0.64	-1.7769	8.0001	0.30291	0.263:0.0:0.737:0.0	.	224;245	Q5VZI3-2;Q5VZI3	.;CI091_HUMAN	S	246;245	.	ENSP00000288502:A245S	A	+	1	0	C9orf91	116440711	0.009000	0.17119	0.002000	0.10522	0.218000	0.24690	1.238000	0.32707	0.667000	0.31107	0.650000	0.86243	GCG		0.557	C9orf91-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000053780.1	NM_153045		27	45	1	0	1.1804e-14	1	1.28927e-14	27	45					T	117400890	G	T	117400890	3	4	435	1	0	0	0	0	1	0	0	0	2505	971	34	5	759	5	C9orf91	9	117400890	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	212388	117400890	23812541	4402	25327											
TNFSF8	944	broad.mit.edu	37	chr9	117692505	117692505	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtccccaggtggctggccaCggagcccgccggcacatgca	6	4	15	16	3	0	0	0	0	0	0	1	1	1	1	5	6	2	3	5	6	0	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:117692505C>T	ENST00000223795.2	-	1	192	c.79G>A	c.(79-81)Gtg>Atg	p.V27M		NM_001244.3	NP_001235.1	P32971	TNFL8_HUMAN	tumor necrosis factor (ligand) superfamily, member 8	27					apoptotic process (GO:0006915)|CD8-positive, alpha-beta T cell differentiation (GO:0043374)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|defense response to Gram-positive bacterium (GO:0050830)|immune response (GO:0006955)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)	receptor binding (GO:0005102)			endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|skin(3)|urinary_tract(1)	12						TGGCTGGCCACGGAGCCCGCC	0.577																																						ENST00000223795.2																			0				endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|skin(3)|urinary_tract(1)	12						c.(79-81)Gtg>Atg		tumor necrosis factor (ligand) superfamily, member 8							61	63	62					9																	117692505		2203	4300	6503	SO:0001583	missense	944				cell proliferation|cell-cell signaling|immune response|induction of apoptosis|signal transduction	extracellular space|integral to plasma membrane	cytokine activity|tumor necrosis factor receptor binding	g.chr9:117692505C>T	L09753	CCDS6810.1, CCDS75884.1	9q33	2008-02-05			ENSG00000106952	ENSG00000106952		"Tumor necrosis factor (ligand) superfamily", "CD molecules"	11938	protein-coding gene	gene with protein product		603875		CD30LG		8391931, 9349718	Standard	NM_001244		Approved	CD153	uc004bji.2	P32971	OTTHUMG00000021025	ENST00000223795.2:c.79G>A	9.37:g.117692505C>T	ENSP00000223795:p.Val27Met						p.V27M	NM_001244.3	NP_001235.1	P32971	TNFL8_HUMAN			1	192	-			27					O43404	Missense_Mutation	SNP	ENST00000223795.2	37	c.79G>A	CCDS6810.1	.	.	.	.	.	.	.	.	.	.	C	15.82	2.945535	0.53079	.	.	ENSG00000106952	ENST00000223795	.	.	.	5.46	5.46	0.80206	.	0.116516	0.37955	N	0.001868	T	0.51584	0.1683	L	0.32530	0.975	0.23215	N	0.998102	D	0.89917	1.0	P	0.61275	0.886	T	0.48725	-0.9010	9	0.72032	D	0.01	-12.2694	16.4589	0.84030	0.0:1.0:0.0:0.0	.	27	P32971	TNFL8_HUMAN	M	27	.	ENSP00000223795:V27M	V	-	1	0	TNFSF8	116732326	0.042000	0.20092	0.056000	0.19401	0.354000	0.29330	2.128000	0.42045	2.555000	0.86185	0.544000	0.68410	GTG		0.577	TNFSF8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055464.1			28	27	0	0	0	1	0	28	27					T	117692505	C	T	117692505	3	4	435	1	0	0	0	0	1	0	0	0	16308	536	19	1	641	1	TNFSF8	9	117692505	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	291615	117692505	23520926	4403	25328											
TNC	3371	broad.mit.edu	37	chr9	117810616	117810616	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ccataacctcatagccaatgCcagttatgaggcctctaagc	12	9	7	13	0	2	1	1	1	1	0	2	1	2	1	5	1	4	1	5	1	5	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:117810616C>T	ENST00000350763.4	-	16	5186	c.4775G>A	c.(4774-4776)gGc>gAc	p.G1592D	TNC_ENST00000535648.1_Intron|TNC_ENST00000341037.4_Intron|TNC_ENST00000537320.1_Intron|TNC_ENST00000345230.3_Intron|TNC_ENST00000340094.3_Missense_Mutation_p.G1228D|TNC_ENST00000423613.2_Intron|TNC_ENST00000346706.3_Intron|TNC_ENST00000542877.1_Intron|TNC_ENST00000481475.1_5'UTR	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	1592	Fibronectin type-III 11. {ECO:0000255|PROSITE-ProRule:PRU00316}.				bud outgrowth involved in lung branching (GO:0060447)|cell adhesion (GO:0007155)|cellular response to prostaglandin D stimulus (GO:0071799)|cellular response to retinoic acid (GO:0071300)|cellular response to vitamin D (GO:0071305)|extracellular matrix organization (GO:0030198)|mesenchymal-epithelial cell signaling involved in prostate gland development (GO:0060739)|negative regulation of cell adhesion (GO:0007162)|neuromuscular junction development (GO:0007528)|odontogenesis of dentin-containing tooth (GO:0042475)|osteoblast differentiation (GO:0001649)|peripheral nervous system axon regeneration (GO:0014012)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|prostate gland epithelium morphogenesis (GO:0060740)|response to ethanol (GO:0045471)|response to fibroblast growth factor (GO:0071774)|response to mechanical stimulus (GO:0009612)|response to wounding (GO:0009611)|wound healing (GO:0042060)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|interstitial matrix (GO:0005614)|membrane (GO:0016020)	syndecan binding (GO:0045545)	p.G1592D(1)		NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						ATAGCCAATGCCAGTTATGAG	0.498																																						ENST00000350763.4																			1	Substitution - Missense(1)	p.G1592D(1)	urinary_tract(1)	NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						c.(4774-4776)gGc>gAc		tenascin C							121	114	116					9																	117810616		2203	4300	6503	SO:0001583	missense	3371				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding	g.chr9:117810616C>T		CCDS6811.1	9q33.1	2014-01-28	2008-07-31	2002-06-07	ENSG00000041982	ENSG00000041982		"Fibrinogen C domain containing", "Fibronectin type III domain containing"	5318	protein-coding gene	gene with protein product	"hexabrachion (tenascin)"	187380	"hexabrachion (tenascin C, cytotactin)", "deafness, autosomal dominant 56"	HXB, DFNA56		1704365, 1707164, 23936043	Standard	NM_002160		Approved	TN, MGC167029	uc004bjj.4	P24821	OTTHUMG00000021010	ENST00000350763.4:c.4775G>A	9.37:g.117810616C>T	ENSP00000265131:p.Gly1592Asp					TNC_ENST00000345230.3_Intron|TNC_ENST00000481475.1_5'UTR|TNC_ENST00000423613.2_Intron|TNC_ENST00000535648.1_Intron|TNC_ENST00000537320.1_Intron|TNC_ENST00000346706.3_Intron|TNC_ENST00000340094.3_Missense_Mutation_p.G1228D|TNC_ENST00000542877.1_Intron|TNC_ENST00000341037.4_Intron	p.G1592D	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN			16	5186	-			1592			Fibronectin type-III 11.		C9IYT7|C9J575|C9J6D9|C9J848|Q14583|Q15567|Q5T7S3	Missense_Mutation	SNP	ENST00000350763.4	37	c.4775G>A	CCDS6811.1	.	.	.	.	.	.	.	.	.	.	C	24.3	4.518510	0.85495	.	.	ENSG00000041982	ENST00000340094;ENST00000350763	T;T	0.61742	0.08;0.08	5.7	5.7	0.88788	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000003	T	0.63058	0.2479	L	0.32530	0.975	0.80722	D	1	D	0.61697	0.99	P	0.60949	0.881	T	0.55010	-0.8207	10	0.18276	T	0.48	.	18.007	0.89212	0.0:1.0:0.0:0.0	.	1592	P24821	TENA_HUMAN	D	1228;1592	ENSP00000344400:G1228D;ENSP00000265131:G1592D	ENSP00000344400:G1228D	G	-	2	0	TNC	116850437	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.175000	0.77632	2.688000	0.91661	0.655000	0.94253	GGC		0.498	TNC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055418.2	NM_002160		20	61	0	0	0	1	0	20	61					T	117810616	C	T	117810616	3	4	435	1	0	0	0	0	1	0	0	0	16267	739	26	3	1882	3	TNC	9	117810616	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	118111	117810616	23402815	4404	25329											
TNC	3371	broad.mit.edu	37	chr9	117853141	117853141	+	Missense_Mutation	SNP	C	C	T																															tggcagcttgatgttgtaaaCgtggttaaacaccactggct																								rs141377575		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:117853141C>T	ENST00000350763.4	-	2	568	c.157G>A	c.(157-159)Gtt>Att	p.V53I	TNC_ENST00000535648.1_Missense_Mutation_p.V53I|TNC_ENST00000341037.4_Missense_Mutation_p.V53I|TNC_ENST00000537320.1_Missense_Mutation_p.V53I|TNC_ENST00000345230.3_Missense_Mutation_p.V53I|TNC_ENST00000340094.3_Missense_Mutation_p.V53I|TNC_ENST00000423613.2_Missense_Mutation_p.V53I|TNC_ENST00000346706.3_Missense_Mutation_p.V53I|TNC_ENST00000542877.1_Missense_Mutation_p.V53I	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	53					bud outgrowth involved in lung branching (GO:0060447)|cell adhesion (GO:0007155)|cellular response to prostaglandin D stimulus (GO:0071799)|cellular response to retinoic acid (GO:0071300)|cellular response to vitamin D (GO:0071305)|extracellular matrix organization (GO:0030198)|mesenchymal-epithelial cell signaling involved in prostate gland development (GO:0060739)|negative regulation of cell adhesion (GO:0007162)|neuromuscular junction development (GO:0007528)|odontogenesis of dentin-containing tooth (GO:0042475)|osteoblast differentiation (GO:0001649)|peripheral nervous system axon regeneration (GO:0014012)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|prostate gland epithelium morphogenesis (GO:0060740)|response to ethanol (GO:0045471)|response to fibroblast growth factor (GO:0071774)|response to mechanical stimulus (GO:0009612)|response to wounding (GO:0009611)|wound healing (GO:0042060)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|interstitial matrix (GO:0005614)|membrane (GO:0016020)	syndecan binding (GO:0045545)			NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						ATGTTGTAAACGTGGTTAAAC	0.572																																						ENST00000350763.4																			0				NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						c.(157-159)Gtt>Att		tenascin C		C	ILE/VAL	1,4405	2.1+/-5.4	0,1,2202	106	103	104		157	0.8	0.7	9	dbSNP_134	104	0,8600		0,0,4300	no	missense	TNC	NM_002160.3	29	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign	53/2202	117853141	1,13005	2203	4300	6503	SO:0001583	missense	3371				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding	g.chr9:117853141C>T		CCDS6811.1	9q33.1	2014-01-28	2008-07-31	2002-06-07	ENSG00000041982	ENSG00000041982		"Fibrinogen C domain containing", "Fibronectin type III domain containing"	5318	protein-coding gene	gene with protein product	"hexabrachion (tenascin)"	187380	"hexabrachion (tenascin C, cytotactin)", "deafness, autosomal dominant 56"	HXB, DFNA56		1704365, 1707164, 23936043	Standard	NM_002160		Approved	TN, MGC167029	uc004bjj.4	P24821	OTTHUMG00000021010	ENST00000350763.4:c.157G>A	9.37:g.117853141C>T	ENSP00000265131:p.Val53Ile					TNC_ENST00000345230.3_Missense_Mutation_p.V53I|TNC_ENST00000423613.2_Missense_Mutation_p.V53I|TNC_ENST00000535648.1_Missense_Mutation_p.V53I|TNC_ENST00000537320.1_Missense_Mutation_p.V53I|TNC_ENST00000346706.3_Missense_Mutation_p.V53I|TNC_ENST00000340094.3_Missense_Mutation_p.V53I|TNC_ENST00000542877.1_Missense_Mutation_p.V53I|TNC_ENST00000341037.4_Missense_Mutation_p.V53I	p.V53I	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN			2	568	-			53					C9IYT7|C9J575|C9J6D9|C9J848|Q14583|Q15567|Q5T7S3	Missense_Mutation	SNP	ENST00000350763.4	37	c.157G>A	CCDS6811.1	.	.	.	.	.	.	.	.	.	.	C	12.08	1.831678	0.32421	2.27E-4	0.0	ENSG00000041982	ENST00000340094;ENST00000535648;ENST00000346706;ENST00000345230;ENST00000350763;ENST00000442945;ENST00000341037;ENST00000423613;ENST00000537320;ENST00000542877;ENST00000534839	T;T;T;T;T;T;T;T;T;T	0.35048	1.33;1.33;1.33;1.33;1.33;1.33;1.33;1.33;1.33;1.33	5.84	0.843	0.18935	.	0.171775	0.50627	N	0.000110	T	0.20700	0.0498	L	0.28608	0.87	0.44677	D	0.997661	P;B	0.40107	0.703;0.356	B;B	0.33890	0.172;0.107	T	0.03619	-1.1019	10	0.31617	T	0.26	.	9.963	0.41708	0.0:0.6595:0.0:0.3405	.	53;53	E9PC84;P24821	.;TENA_HUMAN	I	53	ENSP00000344400:V53I;ENSP00000438152:V53I;ENSP00000344555:V53I;ENSP00000345861:V53I;ENSP00000265131:V53I;ENSP00000339553:V53I;ENSP00000411406:V53I;ENSP00000443478:V53I;ENSP00000442242:V53I;ENSP00000443469:V53I	ENSP00000344400:V53I	V	-	1	0	TNC	116892962	0.982000	0.34865	0.685000	0.30070	0.144000	0.21451	2.628000	0.46477	0.376000	0.24707	0.655000	0.94253	GTT		0.572	TNC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055418.2	NM_002160		32	48	0	0	0	1	0	32	48					T	117853141	C	T	117853141	3	4	435	1	0	0	0	0	1	0	0	0	16267	536	19	1	6556	1	TNC	9	117853141	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	42525	117853141	23360290	4405	25330	119	2									
TNC	3371	broad.mit.edu	37	chr9	117853142	117853142	+	Silent	SNP	G	G	A																															ggcagcttgatgttgtaaacGtggttaaacaccactggctg																								rs7038329	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:117853142G>A	ENST00000350763.4	-	2	567	c.156C>T	c.(154-156)caC>caT	p.H52H	TNC_ENST00000535648.1_Silent_p.H52H|TNC_ENST00000341037.4_Silent_p.H52H|TNC_ENST00000537320.1_Silent_p.H52H|TNC_ENST00000345230.3_Silent_p.H52H|TNC_ENST00000340094.3_Silent_p.H52H|TNC_ENST00000423613.2_Silent_p.H52H|TNC_ENST00000346706.3_Silent_p.H52H|TNC_ENST00000542877.1_Silent_p.H52H	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	52					bud outgrowth involved in lung branching (GO:0060447)|cell adhesion (GO:0007155)|cellular response to prostaglandin D stimulus (GO:0071799)|cellular response to retinoic acid (GO:0071300)|cellular response to vitamin D (GO:0071305)|extracellular matrix organization (GO:0030198)|mesenchymal-epithelial cell signaling involved in prostate gland development (GO:0060739)|negative regulation of cell adhesion (GO:0007162)|neuromuscular junction development (GO:0007528)|odontogenesis of dentin-containing tooth (GO:0042475)|osteoblast differentiation (GO:0001649)|peripheral nervous system axon regeneration (GO:0014012)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|prostate gland epithelium morphogenesis (GO:0060740)|response to ethanol (GO:0045471)|response to fibroblast growth factor (GO:0071774)|response to mechanical stimulus (GO:0009612)|response to wounding (GO:0009611)|wound healing (GO:0042060)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|interstitial matrix (GO:0005614)|membrane (GO:0016020)	syndecan binding (GO:0045545)			NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						TGTTGTAAACGTGGTTAAACA	0.572													G|||	24	0.00479233	0.0174	0	5008	,	,		18331	0		0.001	False		,,,				2504	0					ENST00000350763.4																			0				NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						c.(154-156)caC>caT		tenascin C		G		54,4352	54.9+/-90.9	0,54,2149	104	102	103		156	-9.7	0.5	9	dbSNP_116	103	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	TNC	NM_002160.3		0,55,6448	AA,AG,GG		0.0116,1.2256,0.4229		52/2202	117853142	55,12951	2203	4300	6503	SO:0001819	synonymous_variant	3371				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding	g.chr9:117853142G>A		CCDS6811.1	9q33.1	2014-01-28	2008-07-31	2002-06-07	ENSG00000041982	ENSG00000041982		"Fibrinogen C domain containing", "Fibronectin type III domain containing"	5318	protein-coding gene	gene with protein product	"hexabrachion (tenascin)"	187380	"hexabrachion (tenascin C, cytotactin)", "deafness, autosomal dominant 56"	HXB, DFNA56		1704365, 1707164, 23936043	Standard	NM_002160		Approved	TN, MGC167029	uc004bjj.4	P24821	OTTHUMG00000021010	ENST00000350763.4:c.156C>T	9.37:g.117853142G>A						TNC_ENST00000345230.3_Silent_p.H52H|TNC_ENST00000423613.2_Silent_p.H52H|TNC_ENST00000535648.1_Silent_p.H52H|TNC_ENST00000537320.1_Silent_p.H52H|TNC_ENST00000346706.3_Silent_p.H52H|TNC_ENST00000340094.3_Silent_p.H52H|TNC_ENST00000542877.1_Silent_p.H52H|TNC_ENST00000341037.4_Silent_p.H52H	p.H52H	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN			2	567	-			52					C9IYT7|C9J575|C9J6D9|C9J848|Q14583|Q15567|Q5T7S3	Silent	SNP	ENST00000350763.4	37	c.156C>T	CCDS6811.1																																																																																				0.572	TNC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055418.2	NM_002160		27	52	0	0	0	1	0	27	52					A	117853142	G	A	117853142	2	1	435	1	0	0	0	0	0	0	0	1	16267	1136	40	1		1	TNC	9	117853142	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	1	117853142	23360289	4406	25331	119	2									
PAPPA	5069	broad.mit.edu	37	chr9	118950454	118950454	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctgtgaccctgaaatcacCaatgtcactcagacttgctt	10	12	7	12	0	3	3	3	2	0	1	3	3	3	3	2	0	2	2	2	0	2	2	rs556662763		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:118950454C>A	ENST00000328252.3	+	2	1806	c.1437C>A	c.(1435-1437)acC>acA	p.T479T	PAPPA_ENST00000534838.1_5'UTR	NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A, pappalysin 1	479	Metalloprotease.				cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|female pregnancy (GO:0007565)|response to follicle-stimulating hormone (GO:0032354)|response to glucocorticoid (GO:0051384)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)	endopeptidase activity (GO:0004175)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						CTGAAATCACCAATGTCACTC	0.488																																						ENST00000328252.3																			0				NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						c.(1435-1437)acC>acA		pregnancy-associated plasma protein A, pappalysin 1							96	72	80					9																	118950454		2203	4300	6503	SO:0001819	synonymous_variant	5069				cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding	g.chr9:118950454C>A		CCDS6813.1	9q33.1	2014-03-05			ENSG00000182752	ENSG00000182752			8602	protein-coding gene	gene with protein product	"insulin-like growth factor-dependent IGF binding protein-4 protease", "aspecific BCL2 ARE-binding protein 2", "differentially placenta 1 expressed protein"	176385				7679961	Standard	NM_002581		Approved	PAPP-A, PAPPA1, IGFBP-4ase, PAPA, ASBABP2, DIPLA1	uc004bjn.3	Q13219	OTTHUMG00000021045	ENST00000328252.3:c.1437C>A	9.37:g.118950454C>A						PAPPA_ENST00000534838.1_5'UTR	p.T479T	NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN			2	1806	+			479			Metalloprotease.		B1AMF9|Q08371|Q68G52|Q9UDK7	Silent	SNP	ENST00000328252.3	37	c.1437C>A	CCDS6813.1																																																																																				0.488	PAPPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055546.1	NM_002581		14	27	1	0	4.7546e-09	1	5.0353e-09	14	27					A	118950454	C	A	118950454	2	1	435	1	0	0	0	0	0	0	0	1	11432	581	21	5		5	PAPPA	9	118950454	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	1097312	118950454	22262977	4407	25332											
ASTN2	23245	broad.mit.edu	37	chr9	119188348	119188348	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	actcaccctctccagtcgccGtagaatcaggtgggccttcc	7	9	9	16	2	3	1	2	0	1	1	6	1	4	1	5	2	0	1	5	2	2	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:119188348G>A	ENST00000313400.4	-	23	3902	c.3802C>T	c.(3802-3804)Cgg>Tgg	p.R1268W	ASTN2_ENST00000361209.2_Missense_Mutation_p.R1217W|ASTN2_ENST00000361477.3_Missense_Mutation_p.R320W|ASTN2_ENST00000373996.3_Missense_Mutation_p.R1264W|ASTN2_ENST00000288520.5_Missense_Mutation_p.R369W|ASTN2_ENST00000341734.4_Missense_Mutation_p.R320W			O75129	ASTN2_HUMAN	astrotactin 2	1268					negative regulation of protein localization to cell surface (GO:2000009)	cell pole (GO:0060187)|endosome (GO:0005768)|integral component of membrane (GO:0016021)				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						TCCAGTCGCCGTAGAATCAGG	0.522																																						ENST00000313400.4																			0				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						c.(3802-3804)Cgg>Tgg		astrotactin 2							36	35	35					9																	119188348		2203	4300	6503	SO:0001583	missense	23245					integral to membrane		g.chr9:119188348G>A	AF116574	CCDS6814.1, CCDS6815.1, CCDS48009.1, CCDS48009.2, CCDS55334.1	9q33	2008-02-05			ENSG00000148219	ENSG00000148219			17021	protein-coding gene	gene with protein product		612856				9734811	Standard	NM_014010		Approved	KIAA0634	uc004bjt.2	O75129	OTTHUMG00000021013	ENST00000313400.4:c.3802C>T	9.37:g.119188348G>A	ENSP00000314038:p.Arg1268Trp					ASTN2_ENST00000373996.3_Missense_Mutation_p.R1264W|ASTN2_ENST00000341734.4_Missense_Mutation_p.R320W|ASTN2_ENST00000361477.3_Missense_Mutation_p.R320W|ASTN2_ENST00000361209.2_Missense_Mutation_p.R1217W|ASTN2_ENST00000288520.5_Missense_Mutation_p.R369W	p.R1268W			O75129	ASTN2_HUMAN			23	3902	-			1268					A2A2T7|A2A2T9|Q52LQ2|Q5JVX8|Q5JVX9|Q5JVY1|Q5VXG8|Q5VZX6|Q8N6P8|Q8WV47|Q96FL4|Q9UHW6	Missense_Mutation	SNP	ENST00000313400.4	37	c.3802C>T		.	.	.	.	.	.	.	.	.	.	G	15.21	2.766322	0.49574	.	.	ENSG00000148219	ENST00000313400;ENST00000373996;ENST00000288520;ENST00000341734;ENST00000373986;ENST00000361209;ENST00000361477	T;T;T;T;T;T;T	0.15603	2.83;2.83;2.41;2.42;2.65;2.84;2.42	5.86	4.9	0.64082	.	0.184962	0.47455	D	0.000226	T	0.24470	0.0593	N	0.14661	0.345	0.42641	D	0.993413	D;D;D;D;D;D;D	0.89917	0.999;0.999;1.0;0.999;1.0;0.999;0.999	P;P;D;P;D;P;D	0.75020	0.802;0.877;0.941;0.874;0.985;0.877;0.915	T	0.04946	-1.0916	10	0.72032	D	0.01	-27.3415	13.7935	0.63157	0.0:0.0:0.7157:0.2843	.	320;320;1217;1268;1264;320;369	B7ZKP4;B7ZKP5;O75129-2;O75129;O75129-3;O75129-6;O75129-4	.;.;.;ASTN2_HUMAN;.;.;.	W	1268;1264;369;320;991;1217;320	ENSP00000314038:R1268W;ENSP00000363108:R1264W;ENSP00000288520:R369W;ENSP00000339925:R320W;ENSP00000363098:R991W;ENSP00000354504:R1217W;ENSP00000355116:R320W	ENSP00000288520:R369W	R	-	1	2	ASTN2	118228169	0.992000	0.36948	1.000000	0.80357	0.990000	0.78478	2.102000	0.41796	2.761000	0.94854	0.655000	0.94253	CGG		0.522	ASTN2-201	KNOWN	basic	protein_coding	protein_coding		NM_014010		8	12	0	0	0	1	0	8	12					A	119188348	G	A	119188348	3	1	435	1	0	0	0	0	1	0	0	0	1065	1144	40	1	262	1	ASTN2	9	119188348	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	237894	119188348	22025083	4408	25333											
ASTN2	23245	broad.mit.edu	37	chr9	119203009	119203009	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctccatcagtgtgttgtaggCcatctgctgctcctttccac	5	14	8	14	0	2	0	1	0	1	0	5	0	5	0	4	1	2	4	4	1	1	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:119203009C>T	ENST00000313400.4	-	22	3761	c.3661G>A	c.(3661-3663)Gcc>Acc	p.A1221T	ASTN2_ENST00000361209.2_Missense_Mutation_p.A1170T|ASTN2_ENST00000361477.3_Missense_Mutation_p.A273T|ASTN2_ENST00000373996.3_Missense_Mutation_p.A1217T|ASTN2_ENST00000288520.5_Missense_Mutation_p.A322T|ASTN2_ENST00000341734.4_Missense_Mutation_p.A273T			O75129	ASTN2_HUMAN	astrotactin 2	1221					negative regulation of protein localization to cell surface (GO:2000009)	cell pole (GO:0060187)|endosome (GO:0005768)|integral component of membrane (GO:0016021)				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						GTGTTGTAGGCCATCTGCTGC	0.498																																						ENST00000313400.4																			0				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						c.(3661-3663)Gcc>Acc		astrotactin 2							204	159	174					9																	119203009		2203	4300	6503	SO:0001583	missense	23245					integral to membrane		g.chr9:119203009C>T	AF116574	CCDS6814.1, CCDS6815.1, CCDS48009.1, CCDS48009.2, CCDS55334.1	9q33	2008-02-05			ENSG00000148219	ENSG00000148219			17021	protein-coding gene	gene with protein product		612856				9734811	Standard	NM_014010		Approved	KIAA0634	uc004bjt.2	O75129	OTTHUMG00000021013	ENST00000313400.4:c.3661G>A	9.37:g.119203009C>T	ENSP00000314038:p.Ala1221Thr					ASTN2_ENST00000373996.3_Missense_Mutation_p.A1217T|ASTN2_ENST00000341734.4_Missense_Mutation_p.A273T|ASTN2_ENST00000361477.3_Missense_Mutation_p.A273T|ASTN2_ENST00000361209.2_Missense_Mutation_p.A1170T|ASTN2_ENST00000288520.5_Missense_Mutation_p.A322T	p.A1221T			O75129	ASTN2_HUMAN			22	3761	-			1221					A2A2T7|A2A2T9|Q52LQ2|Q5JVX8|Q5JVX9|Q5JVY1|Q5VXG8|Q5VZX6|Q8N6P8|Q8WV47|Q96FL4|Q9UHW6	Missense_Mutation	SNP	ENST00000313400.4	37	c.3661G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	26.3|26.3	4.727211|4.727211	0.89390|0.89390	.|.	.|.	ENSG00000148219|ENSG00000148219	ENST00000313400;ENST00000373996;ENST00000288520;ENST00000341734;ENST00000373986;ENST00000361209;ENST00000361477|ENST00000417725	T;T;T;T;T;T;T|.	0.26957|.	2.12;2.11;1.7;1.75;1.98;2.18;1.75|.	5.91|5.91	5.91|5.91	0.95273|0.95273	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.66616|.	0.2807|.	L|L	0.36672|0.36672	1.1|1.1	0.80722|0.80722	D|D	1|1	D;D;D;D;D;D;D|.	0.89917|.	0.996;0.996;0.998;0.997;1.0;0.996;0.996|.	D;D;D;D;D;D;D|.	0.91635|.	0.99;0.993;0.995;0.989;0.999;0.993;0.993|.	T|.	0.59637|.	-0.7417|.	10|.	0.87932|.	D|.	0|.	-24.0379|-24.0379	20.2985|20.2985	0.98592|0.98592	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	273;273;1170;1221;1217;273;322|.	B7ZKP4;B7ZKP5;O75129-2;O75129;O75129-3;O75129-6;O75129-4|.	.;.;.;ASTN2_HUMAN;.;.;.|.	T|X	1221;1217;322;273;944;1170;273|2	ENSP00000314038:A1221T;ENSP00000363108:A1217T;ENSP00000288520:A322T;ENSP00000339925:A273T;ENSP00000363098:A944T;ENSP00000354504:A1170T;ENSP00000355116:A273T|.	ENSP00000288520:A322T|.	A|W	-|-	1|3	0|0	ASTN2|ASTN2	118242830|118242830	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.977000|0.977000	0.68977|0.68977	6.012000|6.012000	0.70767|0.70767	2.793000|2.793000	0.96121|0.96121	0.655000|0.655000	0.94253|0.94253	GCC|TGG		0.498	ASTN2-201	KNOWN	basic	protein_coding	protein_coding		NM_014010		28	53	0	0	0	1	0	28	53					T	119203009	C	T	119203009	3	4	435	1	0	0	0	0	1	0	0	0	1065	739	26	3	407	3	ASTN2	9	119203009	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	14661	119203009	22010422	4409	25334											
TLR4	7099	broad.mit.edu	37	chr9	120475801	120475801	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accagagttgctttcaatggCatcttcaatggcttgtccag	9	13	9	10	0	3	1	2	0	1	1	4	1	4	1	2	2	1	4	2	2	2	4	rs200649353		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:120475801C>T	ENST00000355622.6	+	3	1496	c.1395C>T	c.(1393-1395)ggC>ggT	p.G465G	TLR4_ENST00000472304.1_3'UTR|TLR4_ENST00000394487.4_Silent_p.G425G	NM_138554.4|NM_138557.2	NP_612564.1|NP_612567.1	O00206	TLR4_HUMAN	toll-like receptor 4	465					activation of MAPK activity (GO:0000187)|B cell proliferation involved in immune response (GO:0002322)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to lipoteichoic acid (GO:0071223)|cellular response to mechanical stimulus (GO:0071260)|defense response to bacterium (GO:0042742)|defense response to Gram-negative bacterium (GO:0050829)|detection of fungus (GO:0016046)|detection of lipopolysaccharide (GO:0032497)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|I-kappaB phosphorylation (GO:0007252)|immune response (GO:0006955)|innate immune response (GO:0045087)|interferon-gamma production (GO:0032609)|intestinal epithelial structure maintenance (GO:0060729)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|macrophage activation (GO:0042116)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-17 production (GO:0032700)|negative regulation of interleukin-23 production (GO:0032707)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of tumor necrosis factor production (GO:0032720)|nitric oxide production involved in inflammatory response (GO:0002537)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of chemokine production (GO:0032722)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-1 production (GO:0032732)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 biosynthetic process (GO:0045084)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 biosynthetic process (GO:0045416)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of JNK cascade (GO:0046330)|positive regulation of macrophage cytokine production (GO:0060907)|positive regulation of MHC class II biosynthetic process (GO:0045348)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of nucleotide-binding oligomerization domain containing 1 signaling pathway (GO:0070430)|positive regulation of nucleotide-binding oligomerization domain containing 2 signaling pathway (GO:0070434)|positive regulation of platelet activation (GO:0010572)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of cytokine secretion (GO:0050707)|response to lipopolysaccharide (GO:0032496)|T-helper 1 type immune response (GO:0042088)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|endosome membrane (GO:0010008)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|lipopolysaccharide receptor complex (GO:0046696)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	lipopolysaccharide binding (GO:0001530)|lipopolysaccharide receptor activity (GO:0001875)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	103					Naloxone(DB01183)	CTTTCAATGGCATCTTCAATG	0.398																																						ENST00000355622.6																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	103						c.(1393-1395)ggC>ggT		toll-like receptor 4							101	103	102					9																	120475801		2203	4300	6503	SO:0001819	synonymous_variant	7099				activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|I-kappaB phosphorylation|innate immune response|intestinal epithelial structure maintenance|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|T-helper 1 type immune response|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm	lipopolysaccharide receptor activity|transmembrane receptor activity	g.chr9:120475801C>T	U88880	CCDS6818.1	9q33.1	2013-01-23			ENSG00000136869	ENSG00000136869		"CD molecules"	11850	protein-coding gene	gene with protein product		603030				9435236, 9237759	Standard	NM_138554		Approved	hToll, CD284, TLR-4, ARMD10	uc004bjz.4	O00206	OTTHUMG00000021046	ENST00000355622.6:c.1395C>T	9.37:g.120475801C>T						TLR4_ENST00000394487.4_Silent_p.G425G|TLR4_ENST00000472304.1_3'UTR	p.G465G	NM_138554.4|NM_138557.2	NP_612564.1|NP_612567.1	O00206	TLR4_HUMAN			3	1496	+			465					A8K1Y8|A9XLP9|A9XLQ0|A9XLQ1|B4E194|D1CS52|D1CS53|Q5VZI8|Q5VZI9|Q9UK78|Q9UM57	Silent	SNP	ENST00000355622.6	37	c.1395C>T	CCDS6818.1																																																																																				0.398	TLR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055549.3	NM_138554		29	72	0	0	0	1	0	29	72					T	120475801	C	T	120475801	2	4	435	1	0	0	0	0	0	0	0	1	15950	697	25	3		3	TLR4	9	120475801	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	1272792	120475801	20737630	4410	25335											
DBC1	1620	broad.mit.edu	37	chr9	121930403	121930403	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cacagcgtggtgctgccgtgGcacacgcagctccgctggct	5	7	14	15	4	0	0	0	0	0	0	1	0	1	0	2	3	4	6	2	3	0	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:121930403G>A	ENST00000265922.3	-	8	1706	c.1245C>T	c.(1243-1245)tgC>tgT	p.C415C	BRINP1_ENST00000482797.1_Intron	NM_014618.2	NP_055433.2	O60477	BRNP1_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 1	415					cell cycle arrest (GO:0007050)|cell death (GO:0008219)|cellular response to retinoic acid (GO:0071300)|negative regulation of cell cycle (GO:0045786)|negative regulation of mitotic cell cycle (GO:0045930)|positive regulation of neuron differentiation (GO:0045666)	cytoplasm (GO:0005737)											TGCTGCCGTGGCACACGCAGC	0.612																																						ENST00000265922.3																			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(15)|liver(1)|lung(34)|ovary(3)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	83						c.(1243-1245)tgC>tgT									22	21	21					9																	121930403		2203	4300	6503	SO:0001819	synonymous_variant	0				cell cycle arrest|cell death	cytoplasm	protein binding	g.chr9:121930403G>A	AF027734	CCDS6822.1	9q32-q33	2013-08-06	2013-08-06	2013-07-31	ENSG00000078725	ENSG00000078725			2687	protein-coding gene	gene with protein product		602865	"deleted in bladder cancer chromosome region candidate 1", "deleted in bladder cancer 1"	DBCCR1, DBC1		9175739, 10444335, 15193422	Standard	NM_014618		Approved	FAM5A	uc004bkc.2	O60477	OTTHUMG00000021020	ENST00000265922.3:c.1245C>T	9.37:g.121930403G>A						DBC1_ENST00000482797.1_Intron	p.C415C	NM_014618.2	NP_055433.2	O60477	DBC1_HUMAN			8	1706	-			415					Q6IPV6|Q6P1A0|Q8WU22	Silent	SNP	ENST00000265922.3	37	c.1245C>T	CCDS6822.1																																																																																				0.612	BRINP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055440.2	NM_014618		8	16	0	0	0	1	0	8	16					A	121930403	G	A	121930403	2	1	435	1	0	0	0	0	0	0	0	1	4247	1195	42	3		3	DBC1	9	121930403	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	1454602	121930403	19283028	4411	25336											
DBC1	1620	broad.mit.edu	37	chr9	121971078	121971078	+	Frame_Shift_Del	DEL	T	T	-																															tgcgggcagtgcgttggatcTtttgtctctgtgcctccgtg																										TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:121971078delT	ENST00000265922.3	-	7	1525	c.1064delA	c.(1063-1065)aagfs	p.K355fs	BRINP1_ENST00000482797.1_5'UTR	NM_014618.2	NP_055433.2	O60477	BRNP1_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 1	355					cell cycle arrest (GO:0007050)|cell death (GO:0008219)|cellular response to retinoic acid (GO:0071300)|negative regulation of cell cycle (GO:0045786)|negative regulation of mitotic cell cycle (GO:0045930)|positive regulation of neuron differentiation (GO:0045666)	cytoplasm (GO:0005737)											GCGTTGGATCTTTTGTCTCTG	0.572																																						ENST00000265922.3																			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(15)|liver(1)|lung(34)|ovary(3)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	83						c.(1063-1065)agfs									217	181	194					9																	121971078		2203	4300	6503	SO:0001589	frameshift_variant	0				cell cycle arrest|cell death	cytoplasm	protein binding	g.chr9:121971078delT	AF027734	CCDS6822.1	9q32-q33	2013-08-06	2013-08-06	2013-07-31	ENSG00000078725	ENSG00000078725			2687	protein-coding gene	gene with protein product		602865	"deleted in bladder cancer chromosome region candidate 1", "deleted in bladder cancer 1"	DBCCR1, DBC1		9175739, 10444335, 15193422	Standard	NM_014618		Approved	FAM5A	uc004bkc.2	O60477	OTTHUMG00000021020	ENST00000265922.3:c.1064delA	9.37:g.121971078delT	ENSP00000265922:p.Lys355fs					DBC1_ENST00000482797.1_5'UTR	p.K355fs	NM_014618.2	NP_055433.2	O60477	DBC1_HUMAN			7	1525	-			355					Q6IPV6|Q6P1A0|Q8WU22	Frame_Shift_Del	DEL	ENST00000265922.3	37	c.1064delA	CCDS6822.1																																																																																				0.572	BRINP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055440.2	NM_014618		9	43						9	43	---	---	---	---	-	121971078	T	-	121971078	7	5	435	1	0	1	0	1	0	0	0	0	4247	1609	56	0	1229	0	DBC1	9	121971078	Frame_Shift_Del	DEL	T	TCGA-XK-AAIW-01A-11D-A41K-08	40675	121971078	19242353	4412	25337											
CDK5RAP2	55755	broad.mit.edu	37	chr9	123210312	123210312	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aagatctggctctgcagctgCgtcaccacctcctgggtggc	6	9	12	14	1	3	1	1	0	2	1	4	1	4	1	3	3	3	3	3	3	1	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:123210312C>T	ENST00000349780.4	-	22	3065	c.2886G>A	c.(2884-2886)acG>acA	p.T962T	CDK5RAP2_ENST00000360822.3_Silent_p.T930T|CDK5RAP2_ENST00000359309.3_Silent_p.T962T|CDK5RAP2_ENST00000360190.4_Silent_p.T962T	NM_018249.4	NP_060719.4	Q96SN8	CK5P2_HUMAN	CDK5 regulatory subunit associated protein 2	962	Interaction with MAPRE1.				brain development (GO:0007420)|centrosome organization (GO:0051297)|chromosome segregation (GO:0007059)|establishment of mitotic spindle orientation (GO:0000132)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule bundle formation (GO:0001578)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|negative regulation of centriole replication (GO:0046600)|negative regulation of neuron differentiation (GO:0045665)|neurogenesis (GO:0022008)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of neuron differentiation (GO:0045664)|regulation of spindle checkpoint (GO:0090231)	cell junction (GO:0030054)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|pericentriolar material (GO:0000242)|perinuclear region of cytoplasm (GO:0048471)|spindle pole (GO:0000922)	calmodulin binding (GO:0005516)|microtubule binding (GO:0008017)|protein kinase binding (GO:0019901)|transcription regulatory region DNA binding (GO:0044212)|tubulin binding (GO:0015631)			breast(6)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	58						TCTGCAGCTGCGTCACCACCT	0.483																																						ENST00000349780.4																			0				breast(6)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	58						c.(2884-2886)acG>acA		CDK5 regulatory subunit associated protein 2							102	104	104					9																	123210312		2203	4300	6503	SO:0001819	synonymous_variant	55755				brain development|centrosome organization|chromosome segregation|G2/M transition of mitotic cell cycle|microtubule bundle formation|negative regulation of centriole replication|positive regulation of transcription, DNA-dependent|regulation of neuron differentiation|regulation of spindle checkpoint	cytosol|Golgi apparatus|microtubule|pericentriolar material|perinuclear region of cytoplasm|spindle pole	calmodulin binding|microtubule binding|neuronal Cdc2-like kinase binding|transcription regulatory region DNA binding	g.chr9:123210312C>T	BK005504	CCDS6823.1, CCDS43871.1, CCDS75888.1	9q33.3	2014-02-21			ENSG00000136861	ENSG00000136861			18672	protein-coding gene	gene with protein product	"centrosomin"	608201	"microcephaly, primary autosomal recessive 3"	MCPH3		10721722, 17764569, 24466316	Standard	NM_018249		Approved	C48, FLJ10867, CEP215	uc004bkf.4	Q96SN8	OTTHUMG00000021043	ENST00000349780.4:c.2886G>A	9.37:g.123210312C>T						CDK5RAP2_ENST00000360190.4_Silent_p.T962T|CDK5RAP2_ENST00000359309.3_Silent_p.T962T|CDK5RAP2_ENST00000360822.3_Silent_p.T930T	p.T962T	NM_018249.4	NP_060719.4	Q96SN8	CK5P2_HUMAN			22	3065	-			962			Interaction with MAPRE1.		Q5JV18|Q7Z3L4|Q7Z3U1|Q7Z7I6|Q9BSW0|Q9H6J6|Q9HCD9|Q9NV90|Q9UIW9	Silent	SNP	ENST00000349780.4	37	c.2886G>A	CCDS6823.1																																																																																				0.483	CDK5RAP2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055535.1	NM_018249		9	72	0	0	0	1	0	9	72					T	123210312	C	T	123210312	2	4	435	1	0	0	0	0	0	0	0	1	3146	755	27	1		1	CDK5RAP2	9	123210312	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	1239234	123210312	18003119	4413	25338											
CDK5RAP2	55755	broad.mit.edu	37	chr9	123234070	123234070	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgctcctccaaggtcttcCgcaaattctgatatgaaagc	10	12	7	12	1	3	2	0	2	3	0	6	2	6	2	3	1	2	2	3	1	4	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:123234070C>T	ENST00000349780.4	-	16	1993	c.1814G>A	c.(1813-1815)cGg>cAg	p.R605Q	CDK5RAP2_ENST00000360822.3_Missense_Mutation_p.R605Q|CDK5RAP2_ENST00000359309.3_Missense_Mutation_p.R605Q|CDK5RAP2_ENST00000360190.4_Missense_Mutation_p.R605Q	NM_018249.4	NP_060719.4	Q96SN8	CK5P2_HUMAN	CDK5 regulatory subunit associated protein 2	605					brain development (GO:0007420)|centrosome organization (GO:0051297)|chromosome segregation (GO:0007059)|establishment of mitotic spindle orientation (GO:0000132)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule bundle formation (GO:0001578)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|negative regulation of centriole replication (GO:0046600)|negative regulation of neuron differentiation (GO:0045665)|neurogenesis (GO:0022008)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of neuron differentiation (GO:0045664)|regulation of spindle checkpoint (GO:0090231)	cell junction (GO:0030054)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|pericentriolar material (GO:0000242)|perinuclear region of cytoplasm (GO:0048471)|spindle pole (GO:0000922)	calmodulin binding (GO:0005516)|microtubule binding (GO:0008017)|protein kinase binding (GO:0019901)|transcription regulatory region DNA binding (GO:0044212)|tubulin binding (GO:0015631)			breast(6)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	58						caaggtcttccgcaaattctg	0.463																																						ENST00000349780.4																			0				breast(6)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	58						c.(1813-1815)cGg>cAg		CDK5 regulatory subunit associated protein 2							112	104	106					9																	123234070		2203	4300	6503	SO:0001583	missense	55755				brain development|centrosome organization|chromosome segregation|G2/M transition of mitotic cell cycle|microtubule bundle formation|negative regulation of centriole replication|positive regulation of transcription, DNA-dependent|regulation of neuron differentiation|regulation of spindle checkpoint	cytosol|Golgi apparatus|microtubule|pericentriolar material|perinuclear region of cytoplasm|spindle pole	calmodulin binding|microtubule binding|neuronal Cdc2-like kinase binding|transcription regulatory region DNA binding	g.chr9:123234070C>T	BK005504	CCDS6823.1, CCDS43871.1, CCDS75888.1	9q33.3	2014-02-21			ENSG00000136861	ENSG00000136861			18672	protein-coding gene	gene with protein product	"centrosomin"	608201	"microcephaly, primary autosomal recessive 3"	MCPH3		10721722, 17764569, 24466316	Standard	NM_018249		Approved	C48, FLJ10867, CEP215	uc004bkf.4	Q96SN8	OTTHUMG00000021043	ENST00000349780.4:c.1814G>A	9.37:g.123234070C>T	ENSP00000343818:p.Arg605Gln					CDK5RAP2_ENST00000360190.4_Missense_Mutation_p.R605Q|CDK5RAP2_ENST00000359309.3_Missense_Mutation_p.R605Q|CDK5RAP2_ENST00000360822.3_Missense_Mutation_p.R605Q	p.R605Q	NM_018249.4	NP_060719.4	Q96SN8	CK5P2_HUMAN			16	1993	-			605					Q5JV18|Q7Z3L4|Q7Z3U1|Q7Z7I6|Q9BSW0|Q9H6J6|Q9HCD9|Q9NV90|Q9UIW9	Missense_Mutation	SNP	ENST00000349780.4	37	c.1814G>A	CCDS6823.1	.	.	.	.	.	.	.	.	.	.	C	0.085	-1.177000	0.01646	.	.	ENSG00000136861	ENST00000360822;ENST00000359309;ENST00000349780;ENST00000360190;ENST00000416449;ENST00000345313	T;T;T;T;T	0.18810	3.8;3.72;3.79;3.69;2.19	5.32	-0.0747	0.13730	.	0.604497	0.15963	N	0.236169	T	0.08582	0.0213	N	0.08118	0	0.09310	N	1	B;B;B;B	0.20052	0.006;0.007;0.041;0.008	B;B;B;B	0.12156	0.002;0.002;0.007;0.001	T	0.36792	-0.9733	10	0.20046	T	0.44	.	7.8201	0.29282	0.0:0.5224:0.0:0.4776	.	406;605;605;605	Q6MZT4;Q96SN8-2;Q96SN8-4;Q96SN8	.;.;.;CK5P2_HUMAN	Q	605;605;605;605;31;607	ENSP00000354065:R605Q;ENSP00000352258:R605Q;ENSP00000343818:R605Q;ENSP00000353317:R605Q;ENSP00000400395:R31Q	ENSP00000341695:R607Q	R	-	2	0	CDK5RAP2	122273891	0.016000	0.18221	0.010000	0.14722	0.270000	0.26580	-0.189000	0.09629	0.083000	0.17047	-0.302000	0.09304	CGG		0.463	CDK5RAP2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055535.1	NM_018249		21	20	0	0	0	1	0	21	20					T	123234070	C	T	123234070	3	4	435	1	0	0	0	0	1	0	0	0	3146	652	23	2	3959	2	CDK5RAP2	9	123234070	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	23758	123234070	17979361	4414	25339											
PSMD5	5711	broad.mit.edu	37	chr9	123580192	123580192	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctagaagaaatcattcggCtccttctactgctgtcgtgg	8	13	9	11	2	3	2	1	0	2	2	6	2	4	2	1	2	2	2	1	2	4	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:123580192C>T	ENST00000210313.3	-	10	1581	c.1507G>A	c.(1507-1509)Gcc>Acc	p.A503T	PSMD5_ENST00000373904.5_Missense_Mutation_p.A460T|PSMD5_ENST00000604848.1_Intron	NM_001270427.1|NM_005047.3	NP_001257356.1|NP_005038.1	Q16401	PSMD5_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 5	503					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|proteasome regulatory particle assembly (GO:0070682)|protein folding (GO:0006457)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)				endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|prostate(1)	10						AATCATTCGGCTCCTTCTACT	0.423																																						ENST00000210313.3																			0				endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|prostate(1)	10						c.(1507-1509)Gcc>Acc		proteasome (prosome, macropain) 26S subunit, non-ATPase, 5							88	87	87					9																	123580192		2203	4300	6503	SO:0001583	missense	5711				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|proteasome regulatory particle assembly|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome complex	protein binding	g.chr9:123580192C>T	AK001065	CCDS6824.1, CCDS59143.1	9q34.11	2008-02-05			ENSG00000095261	ENSG00000095261		"Proteasome (prosome, macropain) subunits"	9563	protein-coding gene	gene with protein product		604452				7559544	Standard	NM_005047		Approved	S5B, KIAA0072	uc004bko.4	Q16401	OTTHUMG00000020573	ENST00000210313.3:c.1507G>A	9.37:g.123580192C>T	ENSP00000210313:p.Ala503Thr					PSMD5_ENST00000373904.5_Missense_Mutation_p.A460T|PSMD5_ENST00000604848.1_Intron	p.A503T	NM_001270427.1|NM_005047.3	NP_001257356.1|NP_005038.1	Q16401	PSMD5_HUMAN			10	1581	-			503					B4DZM8|Q15045|Q4VXG8	Missense_Mutation	SNP	ENST00000210313.3	37	c.1507G>A	CCDS6824.1	.	.	.	.	.	.	.	.	.	.	C	34	5.412268	0.96072	.	.	ENSG00000095261	ENST00000210313;ENST00000373904	T;T	0.38240	1.15;1.15	5.74	5.74	0.90152	.	0.000000	0.85682	D	0.000000	T	0.64692	0.2621	M	0.81239	2.535	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.75484	0.981;0.986	T	0.67492	-0.5657	10	0.72032	D	0.01	.	18.9239	0.92537	0.0:1.0:0.0:0.0	.	460;503	B4DZM8;Q16401	.;PSMD5_HUMAN	T	503;460	ENSP00000210313:A503T;ENSP00000363011:A460T	ENSP00000210313:A503T	A	-	1	0	PSMD5	122620013	1.000000	0.71417	1.000000	0.80357	0.890000	0.51754	7.487000	0.81328	2.715000	0.92844	0.655000	0.94253	GCC		0.423	PSMD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053825.2	NM_005047		26	42	0	0	0	1	0	26	42					T	123580192	C	T	123580192	3	4	435	1	0	0	0	0	1	0	0	0	12701	797	28	3	11	3	PSMD5	9	123580192	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	346122	123580192	17633239	4415	25340											
C5	727	broad.mit.edu	37	chr9	123725196	123725196	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tcagttgcagaataacatgtCcatctttgatttggtaatca	12	15	7	7	0	3	2	2	1	1	1	4	2	4	2	1	1	2	3	1	1	3	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:123725196C>T	ENST00000223642.1	-	35	4402	c.4373G>A	c.(4372-4374)gGa>gAa	p.G1458E		NM_001735.2	NP_001726.2	P01031	CO5_HUMAN	complement component 5	1458					activation of MAPK activity (GO:0000187)|cell chemotaxis (GO:0060326)|cell surface receptor signaling pathway (GO:0007166)|cellular calcium ion homeostasis (GO:0006874)|chemotaxis (GO:0006935)|complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|in utero embryonic development (GO:0001701)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|leukocyte migration involved in inflammatory response (GO:0002523)|negative regulation of dopamine secretion (GO:0033602)|negative regulation of macrophage chemotaxis (GO:0010760)|negative regulation of norepinephrine secretion (GO:0010700)|positive regulation of angiogenesis (GO:0045766)|positive regulation of chemokine secretion (GO:0090197)|positive regulation of chemotaxis (GO:0050921)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of complement activation (GO:0030449)|response to stress (GO:0006950)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane attack complex (GO:0005579)	chemokine activity (GO:0008009)|endopeptidase inhibitor activity (GO:0004866)|receptor binding (GO:0005102)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(14)|lung(5)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(323;4.98e-53)|GBM - Glioblastoma multiforme(294;0.0242)	Eculizumab(DB01257)|Intravenous Immunoglobulin(DB00028)	AATAACATGTCCATCTTTGAT	0.338																																						ENST00000223642.1																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(14)|lung(5)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						c.(4372-4374)gGa>gAa		complement component 5	Eculizumab(DB01257)						186	184	185					9																	123725196		2203	4300	6503	SO:0001583	missense	727				activation of MAPK activity|chemotaxis|complement activation, alternative pathway|complement activation, classical pathway|cytolysis|G-protein coupled receptor protein signaling pathway|inflammatory response|negative regulation of macrophage chemotaxis|positive regulation of chemokine secretion|positive regulation vascular endothelial growth factor production	extracellular space|membrane attack complex	chemokine activity|endopeptidase inhibitor activity	g.chr9:123725196C>T	M57729	CCDS6826.1	9q33-q34	2014-09-17			ENSG00000106804	ENSG00000106804		"Complement system", "Endogenous ligands"	1331	protein-coding gene	gene with protein product	"prepro-C5", "C5a anaphylatoxin"	120900					Standard	NM_001735		Approved	CPAMD4, C5a, C5b	uc004bkv.3	P01031	OTTHUMG00000020579	ENST00000223642.1:c.4373G>A	9.37:g.123725196C>T	ENSP00000223642:p.Gly1458Glu						p.G1458E	NM_001735.2	NP_001726.2	P01031	CO5_HUMAN		OV - Ovarian serous cystadenocarcinoma(323;4.98e-53)|GBM - Glioblastoma multiforme(294;0.0242)	35	4402	-			1458					Q14CJ0|Q27I61	Missense_Mutation	SNP	ENST00000223642.1	37	c.4373G>A	CCDS6826.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.037943	0.75617	.	.	ENSG00000106804	ENST00000223642	T	0.33216	1.42	5.19	5.19	0.71726	Alpha-macroglobulin, receptor-binding (3);	0.233995	0.43747	D	0.000539	T	0.54303	0.1850	M	0.87827	2.91	0.43793	D	0.996332	D	0.60575	0.988	P	0.55749	0.783	T	0.58589	-0.7610	10	0.37606	T	0.19	.	16.5821	0.84717	0.0:1.0:0.0:0.0	.	1458	P01031	CO5_HUMAN	E	1458	ENSP00000223642:G1458E	ENSP00000223642:G1458E	G	-	2	0	C5	122765017	0.993000	0.37304	0.995000	0.50966	0.974000	0.67602	3.456000	0.53000	2.578000	0.87016	0.655000	0.94253	GGA		0.338	C5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053844.1	NM_001735		46	90	0	0	0	1	0	46	90					T	123725196	C	T	123725196	3	4	435	1	0	0	0	0	1	0	0	0	2280	855	30	3	685	3	C5	9	123725196	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	145004	123725196	17488235	4416	25341											
CEP110	11064	broad.mit.edu	37	chr9	123912636	123912636	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccgacctctcacccctggcActgttgtttatggcccacct	5	11	8	17	1	1	0	1	0	1	0	2	1	1	0	6	2	0	3	6	2	1	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:123912636A>G	ENST00000373855.1	+	25	4098	c.3838A>G	c.(3838-3840)Act>Gct	p.T1280A	CNTRL_ENST00000373847.1_Missense_Mutation_p.T728A|CNTRL_ENST00000238341.5_Missense_Mutation_p.T1280A|CNTRL_ENST00000373850.1_Missense_Mutation_p.T728A			Q7Z7A1	CNTRL_HUMAN	centriolin	1280	Pro-rich.				cell division (GO:0051301)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)				haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(2)|ovary(4)|skin(3)	20						CACCCCTGGCACTGTTGTTTA	0.587																																						ENST00000373855.1																			0				haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(2)|ovary(4)|skin(3)	20						c.(3838-3840)Act>Gct		centriolin							121	112	115					9																	123912636		2203	4300	6503	SO:0001583	missense	11064				cell division|G2/M transition of mitotic cell cycle	centrosome|cytosol	protein binding	g.chr9:123912636A>G	AF513978	CCDS35118.1	9q33.2	2014-02-20	2011-05-23	2011-05-23	ENSG00000119397	ENSG00000119397			1858	protein-coding gene	gene with protein product		605496	"centrosomal protein 1", "centrosomal protein 110kDa"	CEP1, CEP110		10688839	Standard	XM_005251679		Approved		uc004bkx.1	Q7Z7A1	OTTHUMG00000020581	ENST00000373855.1:c.3838A>G	9.37:g.123912636A>G	ENSP00000362962:p.Thr1280Ala					CNTRL_ENST00000373850.1_Missense_Mutation_p.T728A|CNTRL_ENST00000238341.5_Missense_Mutation_p.T1280A|CNTRL_ENST00000373847.1_Missense_Mutation_p.T728A	p.T1280A			Q7Z7A1	CNTRL_HUMAN			25	4098	+			1280			Pro-rich.		A2A2Y1|B2RP67|Q3MN79|Q5FWF8|Q5JVD0|Q6MZR3|Q6PKC1|Q8TEP3|Q9Y489	Missense_Mutation	SNP	ENST00000373855.1	37	c.3838A>G	CCDS35118.1	.	.	.	.	.	.	.	.	.	.	A	20.3	3.968252	0.74131	.	.	ENSG00000119397	ENST00000373855;ENST00000238341;ENST00000454238;ENST00000439778;ENST00000373851;ENST00000373850;ENST00000373847	T;T;T;T	0.28666	1.6;1.6;1.6;1.6	5.71	5.71	0.89125	.	.	.	.	.	T	0.44623	0.1302	M	0.66939	2.045	0.33727	D	0.617724	D;D	0.56521	0.976;0.959	P;P	0.54060	0.741;0.556	T	0.62959	-0.6743	9	0.72032	D	0.01	.	10.7927	0.46443	0.8498:0.0:0.0:0.1502	.	1280;1280	F5GZN0;Q7Z7A1	.;CNTRL_HUMAN	A	1280;1280;1280;36;762;728;728	ENSP00000362962:T1280A;ENSP00000238341:T1280A;ENSP00000362956:T728A;ENSP00000362953:T728A	ENSP00000238341:T1280A	T	+	1	0	CNTRL	122952457	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	2.546000	0.45778	2.183000	0.69458	0.523000	0.50628	ACT		0.587	CNTRL-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250216.1	NM_007018		23	36	0	0	0	1	0	23	36					G	123912636	A	G	123912636	3	3	435	1	0	0	0	0	1	0	0	0	3245	159	6	4	3928	4	CEP110	9	123912636	Missense_Mutation	SNP	A	TCGA-XK-AAIW-01A-11D-A41K-08	187440	123912636	17300795	4417	25342											
CEP110	11064	broad.mit.edu	37	chr9	123927349	123927349	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caagttgtcactgcataacgAcatttcagcaatgcaacagc	14	9	7	11	1	2	0	2	0	0	0	2	1	2	0	0	0	6	4	0	0	4	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:123927349A>G	ENST00000373855.1	+	35	5812	c.5552A>G	c.(5551-5553)gAc>gGc	p.D1851G	CNTRL_ENST00000373845.2_3'UTR|CNTRL_ENST00000238341.5_Missense_Mutation_p.D1851G|CNTRL_ENST00000373850.1_Missense_Mutation_p.D1299G			Q7Z7A1	CNTRL_HUMAN	centriolin	1851					cell division (GO:0051301)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)				haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(2)|ovary(4)|skin(3)	20						CTGCATAACGACATTTCAGCA	0.393																																						ENST00000373855.1																			0				haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(2)|ovary(4)|skin(3)	20						c.(5551-5553)gAc>gGc		centriolin							105	95	98					9																	123927349		2203	4300	6503	SO:0001583	missense	11064				cell division|G2/M transition of mitotic cell cycle	centrosome|cytosol	protein binding	g.chr9:123927349A>G	AF513978	CCDS35118.1	9q33.2	2014-02-20	2011-05-23	2011-05-23	ENSG00000119397	ENSG00000119397			1858	protein-coding gene	gene with protein product		605496	"centrosomal protein 1", "centrosomal protein 110kDa"	CEP1, CEP110		10688839	Standard	XM_005251679		Approved		uc004bkx.1	Q7Z7A1	OTTHUMG00000020581	ENST00000373855.1:c.5552A>G	9.37:g.123927349A>G	ENSP00000362962:p.Asp1851Gly					CNTRL_ENST00000373845.2_3'UTR|CNTRL_ENST00000373850.1_Missense_Mutation_p.D1299G|CNTRL_ENST00000238341.5_Missense_Mutation_p.D1851G	p.D1851G			Q7Z7A1	CNTRL_HUMAN			35	5812	+			1851					A2A2Y1|B2RP67|Q3MN79|Q5FWF8|Q5JVD0|Q6MZR3|Q6PKC1|Q8TEP3|Q9Y489	Missense_Mutation	SNP	ENST00000373855.1	37	c.5552A>G	CCDS35118.1	.	.	.	.	.	.	.	.	.	.	A	17.06	3.291353	0.59976	.	.	ENSG00000119397	ENST00000373855;ENST00000238341;ENST00000454238;ENST00000439778;ENST00000394368;ENST00000373850;ENST00000373845	T;T;T	0.36520	1.56;1.56;1.25	5.8	3.42	0.39159	.	.	.	.	.	T	0.35799	0.0944	M	0.61703	1.905	0.27230	N	0.95942	B	0.11235	0.004	B	0.09377	0.004	T	0.29941	-0.9995	9	0.59425	D	0.04	.	9.6345	0.39800	0.8584:0.0:0.1416:0.0	.	1851	Q7Z7A1	CNTRL_HUMAN	G	1851;1851;1851;607;33;1299;533	ENSP00000362962:D1851G;ENSP00000238341:D1851G;ENSP00000362956:D1299G	ENSP00000238341:D1851G	D	+	2	0	CNTRL	122967170	0.994000	0.37717	0.013000	0.15412	0.798000	0.45092	3.627000	0.54252	0.452000	0.26830	0.460000	0.39030	GAC		0.393	CNTRL-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250216.1	NM_007018		3	47	0	0	0	1	0	3	47					G	123927349	A	G	123927349	3	3	435	1	0	0	0	0	1	0	0	0	3245	275	10	4	5682	4	CEP110	9	123927349	Missense_Mutation	SNP	A	TCGA-XK-AAIW-01A-11D-A41K-08	14713	123927349	17286082	4418	25343											
GSN	2934	broad.mit.edu	37	chr9	124079467	124079467	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ctgcttcatcctggaccacgGcaaagatgggaaaatctttg	11	10	10	10	1	2	1	1	0	1	1	3	3	3	3	2	3	1	2	2	3	3	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:124079467G>A	ENST00000373818.4	+	7	1079	c.1010G>A	c.(1009-1011)gGc>gAc	p.G337D	GSN_ENST00000394353.2_Missense_Mutation_p.G297D|GSN_ENST00000373807.1_Missense_Mutation_p.G68D|GSN_ENST00000373823.3_Missense_Mutation_p.G286D|GSN_ENST00000412819.1_Missense_Mutation_p.G286D|GSN_ENST00000436847.1_Missense_Mutation_p.G297D|GSN_ENST00000341272.2_Missense_Mutation_p.G286D|GSN_ENST00000545652.1_Missense_Mutation_p.G294D|GSN_ENST00000485767.1_3'UTR|GSN_ENST00000449733.1_Missense_Mutation_p.G286D|GSN_ENST00000373808.2_Missense_Mutation_p.G286D	NM_000177.4|NM_001258029.1	NP_000168.1|NP_001244958.1	P06396	GELS_HUMAN	gelsolin	337					actin filament polymerization (GO:0030041)|actin filament severing (GO:0051014)|aging (GO:0007568)|apoptotic process (GO:0006915)|barbed-end actin filament capping (GO:0051016)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to cadmium ion (GO:0071276)|cilium morphogenesis (GO:0060271)|oligodendrocyte development (GO:0014003)|phosphatidylinositol-mediated signaling (GO:0048015)|regulation of cell adhesion (GO:0030155)|response to ethanol (GO:0045471)|response to folic acid (GO:0051593)|tissue regeneration (GO:0042246)|vesicle-mediated transport (GO:0016192)	actin cytoskeleton (GO:0015629)|blood microparticle (GO:0072562)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|perinuclear region of cytoplasm (GO:0048471)|protein complex (GO:0043234)|ruffle (GO:0001726)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)	21						CTGGACCACGGCAAAGATGGG	0.567																																						ENST00000373823.3																			0				NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)	21						c.(856-858)gGc>gAc		gelsolin							130	129	129					9																	124079467		2203	4300	6503	SO:0001583	missense	2934				actin filament polymerization|actin filament severing|barbed-end actin filament capping|cellular component disassembly involved in apoptosis|cilium morphogenesis	actin cytoskeleton|cytosol	actin binding|calcium ion binding|protein binding	g.chr9:124079467G>A	X04412	CCDS6828.1, CCDS6829.1, CCDS48011.1, CCDS65118.1, CCDS75890.1, CCDS75891.1	9q33	2010-04-27	2010-04-27		ENSG00000148180	ENSG00000148180			4620	protein-coding gene	gene with protein product	"amyloidosis, Finnish type"	137350	"gelsolin (amyloidosis, Finnish type)"			1652889	Standard	NM_001127662		Approved	DKFZp313L0718	uc004blf.1	P06396	OTTHUMG00000020584	ENST00000373818.4:c.1010G>A	9.37:g.124079467G>A	ENSP00000362924:p.Gly337Asp					GSN_ENST00000373818.4_Missense_Mutation_p.G337D|GSN_ENST00000545652.1_Missense_Mutation_p.G294D|GSN_ENST00000373808.2_Missense_Mutation_p.G286D|GSN_ENST00000373807.1_Missense_Mutation_p.G68D|GSN_ENST00000412819.1_Missense_Mutation_p.G286D|GSN_ENST00000449733.1_Missense_Mutation_p.G286D|GSN_ENST00000485767.1_3'UTR|GSN_ENST00000341272.2_Missense_Mutation_p.G286D|GSN_ENST00000436847.1_Missense_Mutation_p.G297D|GSN_ENST00000394353.2_Missense_Mutation_p.G297D	p.G286D			P06396	GELS_HUMAN			15	1762	+			337					A2A418|A8MUD1|A8MYN7|B7Z373|B7Z5V1|F5H1A8|Q5T0I2|Q8WVV7	Missense_Mutation	SNP	ENST00000373818.4	37	c.857G>A	CCDS6828.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.099004	0.76870	.	.	ENSG00000148180	ENST00000373823;ENST00000436847;ENST00000394353;ENST00000449733;ENST00000412819;ENST00000341272;ENST00000373808;ENST00000394352;ENST00000456109;ENST00000545652;ENST00000373818;ENST00000373807	T;T;T;T;T;T;T;T;T;T	0.62105	0.05;0.05;0.05;0.05;0.05;0.05;0.05;0.05;0.05;0.05	5.24	5.24	0.73138	Gelsolin domain (1);	0.000000	0.85682	D	0.000000	D	0.82806	0.5117	M	0.88241	2.94	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.997;1.0;0.999;0.998;1.0	D	0.86181	0.1606	10	0.72032	D	0.01	-27.7388	17.8238	0.88658	0.0:0.0:1.0:0.0	.	310;294;297;68;337	B7Z9A0;F5H1A8;B7Z373;Q5T0H9;P06396	.;.;.;.;GELS_HUMAN	D	286;297;297;286;286;286;286;270;260;294;337;68	ENSP00000362929:G286D;ENSP00000411293:G297D;ENSP00000377882:G297D;ENSP00000409358:G286D;ENSP00000416586:G286D;ENSP00000340888:G286D;ENSP00000362914:G286D;ENSP00000445823:G294D;ENSP00000362924:G337D;ENSP00000362913:G68D	ENSP00000340888:G286D	G	+	2	0	GSN	123119288	1.000000	0.71417	0.792000	0.32020	0.274000	0.26718	9.255000	0.95524	2.448000	0.82819	0.561000	0.74099	GGC		0.567	GSN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000053861.1	NM_000177		35	66	0	0	0	1	0	35	66					A	124079467	G	A	124079467	3	1	435	1	0	0	0	0	1	0	0	0	6825	1203	42	3	1064	3	GSN	9	124079467	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	152118	124079467	17133964	4419	25344											
GSN	2934	broad.mit.edu	37	chr9	124094730	124094730	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agctaagcggtacatcgagaCggacccagccaatcgggatc	12	5	12	12	4	0	1	0	0	0	1	3	4	0	3	2	3	4	2	2	3	3	2	rs142854368		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:124094730C>T	ENST00000373818.4	+	17	2267	c.2198C>T	c.(2197-2199)aCg>aTg	p.T733M	GSN_ENST00000394353.2_Missense_Mutation_p.T693M|GSN_ENST00000373823.3_Missense_Mutation_p.T682M|GSN_ENST00000412819.1_Missense_Mutation_p.T682M|GSN_ENST00000436847.1_Missense_Mutation_p.T693M|GSN_ENST00000341272.2_Missense_Mutation_p.T682M|GSN_ENST00000545652.1_Missense_Mutation_p.T690M|GSN_ENST00000449733.1_Missense_Mutation_p.T682M|GSN_ENST00000373808.2_Missense_Mutation_p.T682M|GSN_ENST00000373806.1_Missense_Mutation_p.T158M	NM_000177.4|NM_001258029.1	NP_000168.1|NP_001244958.1	P06396	GELS_HUMAN	gelsolin	733	Actin-binding, Ca-sensitive. {ECO:0000255}.				actin filament polymerization (GO:0030041)|actin filament severing (GO:0051014)|aging (GO:0007568)|apoptotic process (GO:0006915)|barbed-end actin filament capping (GO:0051016)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to cadmium ion (GO:0071276)|cilium morphogenesis (GO:0060271)|oligodendrocyte development (GO:0014003)|phosphatidylinositol-mediated signaling (GO:0048015)|regulation of cell adhesion (GO:0030155)|response to ethanol (GO:0045471)|response to folic acid (GO:0051593)|tissue regeneration (GO:0042246)|vesicle-mediated transport (GO:0016192)	actin cytoskeleton (GO:0015629)|blood microparticle (GO:0072562)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|perinuclear region of cytoplasm (GO:0048471)|protein complex (GO:0043234)|ruffle (GO:0001726)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)	21						TACATCGAGACGGACCCAGCC	0.577											OREG0019445	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000373823.3																			0				NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)	21						c.(2044-2046)aCg>aTg		gelsolin		C	MET/THR,MET/THR,MET/THR,MET/THR,MET/THR,MET/THR,MET/THR,MET/THR	0,4406		0,0,2203	139	125	129		2198,2045,2045,2045,2045,2078,2078,2045	6.1	1	9	dbSNP_134	129	1,8599	1.2+/-3.3	0,1,4299	yes	missense,missense,missense,missense,missense,missense,missense,missense	GSN	NM_000177.4,NM_001127662.1,NM_001127663.1,NM_001127664.1,NM_001127665.1,NM_001127666.1,NM_001127667.1,NM_198252.2	81,81,81,81,81,81,81,81	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	733/783,682/732,682/732,682/732,682/732,693/743,693/743,682/732	124094730	1,13005	2203	4300	6503	SO:0001583	missense	2934				actin filament polymerization|actin filament severing|barbed-end actin filament capping|cellular component disassembly involved in apoptosis|cilium morphogenesis	actin cytoskeleton|cytosol	actin binding|calcium ion binding|protein binding	g.chr9:124094730C>T	X04412	CCDS6828.1, CCDS6829.1, CCDS48011.1, CCDS65118.1, CCDS75890.1, CCDS75891.1	9q33	2010-04-27	2010-04-27		ENSG00000148180	ENSG00000148180			4620	protein-coding gene	gene with protein product	"amyloidosis, Finnish type"	137350	"gelsolin (amyloidosis, Finnish type)"			1652889	Standard	NM_001127662		Approved	DKFZp313L0718	uc004blf.1	P06396	OTTHUMG00000020584	ENST00000373818.4:c.2198C>T	9.37:g.124094730C>T	ENSP00000362924:p.Thr733Met		OREG0019445	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1531	GSN_ENST00000373818.4_Missense_Mutation_p.T733M|GSN_ENST00000545652.1_Missense_Mutation_p.T690M|GSN_ENST00000373808.2_Missense_Mutation_p.T682M|GSN_ENST00000412819.1_Missense_Mutation_p.T682M|GSN_ENST00000449733.1_Missense_Mutation_p.T682M|GSN_ENST00000373806.1_Missense_Mutation_p.T158M|GSN_ENST00000341272.2_Missense_Mutation_p.T682M|GSN_ENST00000436847.1_Missense_Mutation_p.T693M|GSN_ENST00000394353.2_Missense_Mutation_p.T693M	p.T682M			P06396	GELS_HUMAN			25	2950	+			733			Actin-binding, Ca-sensitive (Potential).		A2A418|A8MUD1|A8MYN7|B7Z373|B7Z5V1|F5H1A8|Q5T0I2|Q8WVV7	Missense_Mutation	SNP	ENST00000373818.4	37	c.2045C>T	CCDS6828.1	.	.	.	.	.	.	.	.	.	.	C	25.5	4.643379	0.87859	0.0	1.16E-4	ENSG00000148180	ENST00000373823;ENST00000436847;ENST00000394353;ENST00000449733;ENST00000412819;ENST00000341272;ENST00000373808;ENST00000394352;ENST00000456109;ENST00000545652;ENST00000373818;ENST00000373806;ENST00000373805	T;T;T;T;T;T;T;T;T;T	0.24151	1.87;1.87;1.87;1.87;1.87;1.87;1.87;1.87;1.87;1.87	6.07	6.07	0.98685	Gelsolin domain (1);	0.049049	0.85682	D	0.000000	T	0.50205	0.1602	M	0.72479	2.2	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.79784	0.993;0.976;0.993;0.991	T	0.37641	-0.9697	10	0.45353	T	0.12	-14.4923	15.1622	0.72793	0.0:0.8596:0.1404:0.0	.	706;690;693;733	B7Z9A0;F5H1A8;B7Z373;P06396	.;.;.;GELS_HUMAN	M	682;693;693;682;682;682;682;666;656;690;733;158;139	ENSP00000362929:T682M;ENSP00000411293:T693M;ENSP00000377882:T693M;ENSP00000409358:T682M;ENSP00000416586:T682M;ENSP00000340888:T682M;ENSP00000362914:T682M;ENSP00000445823:T690M;ENSP00000362924:T733M;ENSP00000362912:T158M	ENSP00000340888:T682M	T	+	2	0	GSN	123134551	1.000000	0.71417	0.971000	0.41717	0.962000	0.63368	5.569000	0.67391	2.885000	0.99019	0.655000	0.94253	ACG		0.577	GSN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000053861.1	NM_000177		17	20	0	0	0	1	0	17	20					T	124094730	C	T	124094730	3	4	435	1	0	0	0	0	1	0	0	0	6825	536	19	1	2292	1	GSN	9	124094730	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	15263	124094730	17118701	4420	25345											
GSN	2934	broad.mit.edu	37	chr9	124094780	124094780	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccatcaccgtggtgaagcaaGgctttgagcctccctccttt	7	11	9	14	1	1	2	1	2	0	0	3	2	3	2	5	2	2	2	5	2	2	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:124094780G>T	ENST00000373818.4	+	17	2317	c.2248G>T	c.(2248-2250)Ggc>Tgc	p.G750C	GSN_ENST00000394353.2_Missense_Mutation_p.G710C|GSN_ENST00000373823.3_Missense_Mutation_p.G699C|GSN_ENST00000412819.1_Missense_Mutation_p.G699C|GSN_ENST00000436847.1_Missense_Mutation_p.G710C|GSN_ENST00000341272.2_Missense_Mutation_p.G699C|GSN_ENST00000545652.1_Missense_Mutation_p.G707C|GSN_ENST00000449733.1_Missense_Mutation_p.G699C|GSN_ENST00000373808.2_Missense_Mutation_p.G699C|GSN_ENST00000373806.1_Missense_Mutation_p.G175C	NM_000177.4|NM_001258029.1	NP_000168.1|NP_001244958.1	P06396	GELS_HUMAN	gelsolin	750	Actin-binding, Ca-sensitive. {ECO:0000255}.				actin filament polymerization (GO:0030041)|actin filament severing (GO:0051014)|aging (GO:0007568)|apoptotic process (GO:0006915)|barbed-end actin filament capping (GO:0051016)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to cadmium ion (GO:0071276)|cilium morphogenesis (GO:0060271)|oligodendrocyte development (GO:0014003)|phosphatidylinositol-mediated signaling (GO:0048015)|regulation of cell adhesion (GO:0030155)|response to ethanol (GO:0045471)|response to folic acid (GO:0051593)|tissue regeneration (GO:0042246)|vesicle-mediated transport (GO:0016192)	actin cytoskeleton (GO:0015629)|blood microparticle (GO:0072562)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|perinuclear region of cytoplasm (GO:0048471)|protein complex (GO:0043234)|ruffle (GO:0001726)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)	21						GGTGAAGCAAGGCTTTGAGCC	0.597											OREG0019445	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000373823.3																			0				NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)	21						c.(2095-2097)Ggc>Tgc		gelsolin							168	141	150					9																	124094780		2203	4300	6503	SO:0001583	missense	2934				actin filament polymerization|actin filament severing|barbed-end actin filament capping|cellular component disassembly involved in apoptosis|cilium morphogenesis	actin cytoskeleton|cytosol	actin binding|calcium ion binding|protein binding	g.chr9:124094780G>T	X04412	CCDS6828.1, CCDS6829.1, CCDS48011.1, CCDS65118.1, CCDS75890.1, CCDS75891.1	9q33	2010-04-27	2010-04-27		ENSG00000148180	ENSG00000148180			4620	protein-coding gene	gene with protein product	"amyloidosis, Finnish type"	137350	"gelsolin (amyloidosis, Finnish type)"			1652889	Standard	NM_001127662		Approved	DKFZp313L0718	uc004blf.1	P06396	OTTHUMG00000020584	ENST00000373818.4:c.2248G>T	9.37:g.124094780G>T	ENSP00000362924:p.Gly750Cys		OREG0019445	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1531	GSN_ENST00000373818.4_Missense_Mutation_p.G750C|GSN_ENST00000545652.1_Missense_Mutation_p.G707C|GSN_ENST00000373808.2_Missense_Mutation_p.G699C|GSN_ENST00000412819.1_Missense_Mutation_p.G699C|GSN_ENST00000449733.1_Missense_Mutation_p.G699C|GSN_ENST00000373806.1_Missense_Mutation_p.G175C|GSN_ENST00000341272.2_Missense_Mutation_p.G699C|GSN_ENST00000436847.1_Missense_Mutation_p.G710C|GSN_ENST00000394353.2_Missense_Mutation_p.G710C	p.G699C			P06396	GELS_HUMAN			25	3000	+			750			Actin-binding, Ca-sensitive (Potential).		A2A418|A8MUD1|A8MYN7|B7Z373|B7Z5V1|F5H1A8|Q5T0I2|Q8WVV7	Missense_Mutation	SNP	ENST00000373818.4	37	c.2095G>T	CCDS6828.1	.	.	.	.	.	.	.	.	.	.	G	34	5.297183	0.95574	.	.	ENSG00000148180	ENST00000373823;ENST00000436847;ENST00000394353;ENST00000449733;ENST00000412819;ENST00000341272;ENST00000373808;ENST00000394352;ENST00000456109;ENST00000545652;ENST00000373818;ENST00000373806;ENST00000373805	T;T;T;T;T;T;T;T;T;T	0.43688	0.94;0.94;0.94;0.94;0.94;0.94;0.94;0.94;0.94;0.94	6.07	6.07	0.98685	Gelsolin domain (1);	0.000000	0.85682	D	0.000000	T	0.79563	0.4467	H	0.97852	4.09	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.994;0.998;0.994	D	0.86234	0.1639	10	0.87932	D	0	-34.6698	19.6475	0.95784	0.0:0.0:1.0:0.0	.	723;707;710;750	B7Z9A0;F5H1A8;B7Z373;P06396	.;.;.;GELS_HUMAN	C	699;710;710;699;699;699;699;683;673;707;750;175;156	ENSP00000362929:G699C;ENSP00000411293:G710C;ENSP00000377882:G710C;ENSP00000409358:G699C;ENSP00000416586:G699C;ENSP00000340888:G699C;ENSP00000362914:G699C;ENSP00000445823:G707C;ENSP00000362924:G750C;ENSP00000362912:G175C	ENSP00000340888:G699C	G	+	1	0	GSN	123134601	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	7.434000	0.80377	2.885000	0.99019	0.655000	0.94253	GGC		0.597	GSN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000053861.1	NM_000177		13	17	1	0	0.00010058	1	0.000103117	13	17					T	124094780	G	T	124094780	3	4	435	1	0	0	0	0	1	0	0	0	6825	1000	35	5	2342	5	GSN	9	124094780	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	50	124094780	17118651	4421	25346											
DAB2IP	153090	broad.mit.edu	37	chr9	124521263	124521263	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gagaacctccggcgagcggtGcatcccaacaaggtaagcct	11	5	12	13	3	0	1	0	0	0	1	2	3	2	1	4	3	5	2	4	3	4	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:124521263G>A	ENST00000408936.3	+	5	785	c.603G>A	c.(601-603)gtG>gtA	p.V201V	DAB2IP_ENST00000309989.1_Silent_p.V77V|DAB2IP_ENST00000259371.2_Silent_p.V173V			Q5VWQ8	DAB2P_HUMAN	DAB2 interacting protein	201	C2.|PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				activation of JUN kinase activity (GO:0007257)|activation of MAPKKK activity (GO:0000185)|angiogenesis (GO:0001525)|cell cycle (GO:0007049)|cell motility involved in cerebral cortex radial glia guided migration (GO:0021814)|cellular protein catabolic process (GO:0044257)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to interleukin-1 (GO:0071347)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to tumor necrosis factor (GO:0071356)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|endothelial cell apoptotic process (GO:0072577)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|I-kappaB phosphorylation (GO:0007252)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|layer formation in cerebral cortex (GO:0021819)|negative regulation of angiogenesis (GO:0016525)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catenin import into nucleus (GO:0035414)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin catabolic process (GO:2000599)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of G0 to G1 transition (GO:0070317)|negative regulation of GTPase activity (GO:0034260)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of phosphatidylinositol 3-kinase activity (GO:0043553)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|negative regulation of Ras GTPase activity (GO:0034261)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of toll-like receptor 4 signaling pathway (GO:0034144)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030948)|negative regulation of vascular endothelial growth factor signaling pathway (GO:1900747)|neuron projection morphogenesis (GO:0048812)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of dendrite development (GO:1900006)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of neuron migration (GO:2001224)|positive regulation of neuron projection development (GO:0010976)|positive regulation of proteasomal protein catabolic process (GO:1901800)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of synapse maturation (GO:0090129)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of ARF GTPase activity (GO:0032312)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of p38MAPK cascade (GO:1900744)|regulation of protein complex assembly (GO:0043254)|response to unfolded protein (GO:0006986)|transformed cell apoptotic process (GO:0006927)|tube formation (GO:0035148)|vascular endothelial growth factor receptor-2 signaling pathway (GO:0036324)	axon (GO:0030424)|cerebellar mossy fiber (GO:0044300)|climbing fiber (GO:0044301)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|extracellular vesicular exosome (GO:0070062)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|neuronal cell body (GO:0043025)|neuronal cell body membrane (GO:0032809)|parallel fiber (GO:1990032)|plasma membrane (GO:0005886)	14-3-3 protein binding (GO:0071889)|death receptor binding (GO:0005123)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|mitogen-activated protein kinase kinase binding (GO:0031434)|mitogen-activated protein kinase kinase kinase binding (GO:0031435)|phosphatidylinositol 3-kinase binding (GO:0043548)|phosphatidylinositol 3-kinase regulatory subunit binding (GO:0036312)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4-phosphate binding (GO:0070273)|protein complex binding (GO:0032403)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein phosphatase 2A binding (GO:0051721)|Ras GTPase activator activity (GO:0005099)|SH3 domain binding (GO:0017124)|signaling adaptor activity (GO:0035591)|vascular endothelial growth factor receptor 2 binding (GO:0043184)			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(8)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	27						GGCGAGCGGTGCATCCCAACA	0.572																																						ENST00000408936.3																			0				breast(3)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(8)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	27						c.(601-603)gtG>gtA		DAB2 interacting protein							82	71	75					9																	124521263		2203	4300	6503	SO:0001819	synonymous_variant	153090				activation of JUN kinase activity|apoptosis in response to endoplasmic reticulum stress|cellular response to epidermal growth factor stimulus|cellular response to tumor necrosis factor|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of fibroblast proliferation|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of Ras GTPase activity|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|intrinsic to internal side of plasma membrane	14-3-3 protein binding|death receptor binding|mitogen-activated protein kinase kinase kinase binding|protein homodimerization activity|protein phosphatase 2A binding|Ras GTPase activator activity|signaling adaptor activity	g.chr9:124521263G>A	AF367051	CCDS6832.1, CCDS6833.2	9q33.1-q33.3	2008-07-21			ENSG00000136848	ENSG00000136848			17294	protein-coding gene	gene with protein product	"nGAP-like protein", "DOC-2/DAB2 interactive protein", "ASK-interacting protein", "ASK1-interacting protein 1"	609205				11944990, 11812785	Standard	XM_005251721		Approved	AF9Q34, DIP1/2, KIAA1743, AIP1	uc004bln.3	Q5VWQ8	OTTHUMG00000020595	ENST00000408936.3:c.603G>A	9.37:g.124521263G>A						DAB2IP_ENST00000259371.2_Silent_p.V173V|DAB2IP_ENST00000309989.1_Silent_p.V77V	p.V201V			Q5VWQ8	DAB2P_HUMAN			5	785	+			201			C2.|PH.		A6H8V2|A6NHI9|B0QZB1|G3XA90|Q8TDL2|Q96SE1|Q9C0C0	Silent	SNP	ENST00000408936.3	37	c.603G>A																																																																																					0.572	DAB2IP-009	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000317857.1	NM_032552		10	2	0	0	0	1	0	10	2					A	124521263	G	A	124521263	2	1	435	1	0	0	0	0	0	0	0	1	4219	1306	46	3		3	DAB2IP	9	124521263	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	426483	124521263	16692168	4422	25347											
TTLL11	158135	broad.mit.edu	37	chr9	124751448	124751448	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggccggtcaaggctggaaacGcaggctgggaactggcaatg	10	5	17	9	2	1	0	1	0	0	0	1	2	1	2	1	7	2	4	1	7	4	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:124751448G>A	ENST00000373776.3	-	4	1752	c.1565C>T	c.(1564-1566)gCg>gTg	p.A522V	TTLL11_ENST00000474723.1_Intron|TTLL11_ENST00000321582.5_Intron	NM_194252.2	NP_919228.2	Q8NHH1	TTL11_HUMAN	tubulin tyrosine ligase-like family, member 11	522	TTL. {ECO:0000255|PROSITE- ProRule:PRU00568}.				cellular protein modification process (GO:0006464)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	ligase activity (GO:0016874)			breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(3)|skin(1)	18						GGCTGGAAACGCAGGCTGGGA	0.617																																						ENST00000373776.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(3)|skin(1)	18						c.(1564-1566)gCg>gTg		tubulin tyrosine ligase-like family, member 11							73	72	72					9																	124751448		2203	4300	6503	SO:0001583	missense	158135				protein modification process	cilium|microtubule basal body	tubulin-tyrosine ligase activity	g.chr9:124751448G>A	AF521886	CCDS6834.2, CCDS48012.1	9q34.11	2013-02-14	2005-07-28	2005-07-28	ENSG00000175764	ENSG00000175764		"Tubulin tyrosine ligase-like family"	18113	protein-coding gene	gene with protein product			"chromosome 9 open reading frame 20"	C9orf20		15890843	Standard	NM_001139442		Approved	bA244O19.1	uc011lyl.2	Q8NHH1	OTTHUMG00000020597	ENST00000373776.3:c.1565C>T	9.37:g.124751448G>A	ENSP00000362881:p.Ala522Val					TTLL11_ENST00000321582.5_Intron|TTLL11_ENST00000474723.1_Intron	p.A522V	NM_194252.2	NP_919228.2	Q8NHH1	TTL11_HUMAN			4	1752	-			522			TTL.			Missense_Mutation	SNP	ENST00000373776.3	37	c.1565C>T	CCDS6834.2	.	.	.	.	.	.	.	.	.	.	G	10.41	1.342604	0.24339	.	.	ENSG00000175764	ENST00000373776	T	0.06768	3.26	3.22	2.08	0.27032	.	4.097190	0.02957	N	0.142561	T	0.04634	0.0126	N	0.08118	0	0.23906	N	0.996508	B	0.34349	0.45	B	0.19148	0.024	T	0.30327	-0.9982	10	0.87932	D	0	.	6.5411	0.22380	0.0:0.0:0.2693:0.7307	.	522	Q8NHH1	TTL11_HUMAN	V	522	ENSP00000362881:A522V	ENSP00000362881:A522V	A	-	2	0	TTLL11	123791269	0.001000	0.12720	0.005000	0.12908	0.021000	0.10359	0.306000	0.19279	0.625000	0.30304	-0.535000	0.04281	GCG		0.617	TTLL11-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000053907.1	XM_088486		18	40	0	0	0	1	0	18	40					A	124751448	G	A	124751448	3	1	435	1	0	0	0	0	1	0	0	0	16721	1087	38	1	939	1	TTLL11	9	124751448	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	230185	124751448	16461983	4423	25348											
PTGS1	5742	broad.mit.edu	37	chr9	125154676	125154676	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagccgagcacatttggcggCgaggtgggctttaacattgt	9	10	14	8	3	0	0	0	0	0	0	0	2	0	0	1	4	3	2	1	4	2	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:125154676C>T	ENST00000362012.2	+	11	1658	c.1653C>T	c.(1651-1653)ggC>ggT	p.G551G	PTGS1_ENST00000540753.1_Silent_p.G489G|PTGS1_ENST00000223423.4_Silent_p.G514G|PTGS1_ENST00000373698.5_Silent_p.G442G	NM_000962.3|NM_001271164.1|NM_001271367.1|NM_080591.2	NP_000953.2|NP_001258093.1|NP_001258296.1|NP_542158.1	P23219	PGH1_HUMAN	prostaglandin-endoperoxide synthase 1 (prostaglandin G/H synthase and cyclooxygenase)	551					arachidonic acid metabolic process (GO:0019369)|cyclooxygenase pathway (GO:0019371)|inflammatory response (GO:0006954)|lipid metabolic process (GO:0006629)|prostaglandin biosynthetic process (GO:0001516)|regulation of blood pressure (GO:0008217)|regulation of cell proliferation (GO:0042127)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|photoreceptor outer segment (GO:0001750)	dioxygenase activity (GO:0051213)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)|prostaglandin-endoperoxide synthase activity (GO:0004666)			large_intestine(3)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	8					Acetaminophen(DB00316)|Acetylsalicylic acid(DB00945)|Antipyrine(DB01435)|Antrafenine(DB01419)|Balsalazide(DB01014)|Bortezomib(DB00188)|Bromfenac(DB00963)|Candesartan(DB00796)|Carprofen(DB00821)|Carvedilol(DB01136)|Chlorpropamide(DB00672)|Dapsone(DB00250)|Desmopressin(DB00035)|Diazepam(DB00829)|Diclofenac(DB00586)|Diethylcarbamazine(DB00711)|Diflunisal(DB00861)|Dihomo-gamma-linolenic acid(DB00154)|Diphenhydramine(DB01075)|Dronabinol(DB00470)|Eletriptan(DB00216)|Eszopiclone(DB00402)|Etodolac(DB00749)|Etoposide(DB00773)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|Hexobarbital(DB01355)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Icosapent(DB00159)|Ifosfamide(DB01181)|Imatinib(DB00619)|Indomethacin(DB00328)|Irbesartan(DB01029)|Ketamine(DB01221)|Ketobemidone(DB06738)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lornoxicam(DB06725)|Lumiracoxib(DB01283)|Magnesium salicylate(DB01397)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mesalazine(DB00244)|Minoxidil(DB00350)|Montelukast(DB00471)|Nabumetone(DB00461)|Naproxen(DB00788)|Nateglinide(DB00731)|Nepafenac(DB06802)|Niflumic Acid(DB04552)|Nortriptyline(DB00540)|Oxaprozin(DB00991)|Phenylbutazone(DB00812)|Pioglitazone(DB01132)|Piroxicam(DB00554)|Rosiglitazone(DB00412)|Salicylate-sodium(DB01398)|Salicylic acid(DB00936)|Salsalate(DB01399)|Sulfamethoxazole(DB01015)|Sulfasalazine(DB00795)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Terbinafine(DB00857)|Thalidomide(DB01041)|Tiaprofenic acid(DB01600)|Tolmetin(DB00500)|Torasemide(DB00214)|Trabectedin(DB05109)|Triflusal(DB08814)|Trisalicylate-choline(DB01401)|Valproic Acid(DB00313)|Voriconazole(DB00582)|Zafirlukast(DB00549)|Zileuton(DB00744)|Zolpidem(DB00425)|Zopiclone(DB01198)	CATTTGGCGGCGAGGTGGGCT	0.552																																						ENST00000362012.2																			0				large_intestine(3)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	8						c.(1651-1653)ggC>ggT		prostaglandin-endoperoxide synthase 1 (prostaglandin G/H synthase and cyclooxygenase)	Acetaminophen(DB00316)|Aspirin(DB00945)|Balsalazide(DB01014)|Bromfenac(DB00963)|Ciclopirox(DB01188)|Diclofenac(DB00586)|Diflunisal(DB00861)|Dipyrone(DB04817)|Etodolac(DB00749)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|gamma-Homolinolenic acid(DB00154)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lumiracoxib(DB01283)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Mesalazine(DB00244)|Minoxidil(DB00350)|Nabumetone(DB00461)|Naproxen(DB00788)|Phenacetin(DB03783)|Piroxicam(DB00554)|Rofecoxib(DB00533)|Salicyclic acid(DB00936)|Salsalate(DB01399)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Tolmetin(DB00500)						111	106	108					9																	125154676		2203	4300	6503	SO:0001819	synonymous_variant	5742				cyclooxygenase pathway|hormone biosynthetic process|regulation of blood pressure|response to oxidative stress|xenobiotic metabolic process	endoplasmic reticulum membrane|Golgi apparatus|microsome|plasma membrane	heme binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peroxidase activity|prostaglandin-endoperoxide synthase activity	g.chr9:125154676C>T	M59979	CCDS6842.1, CCDS6843.1, CCDS59520.1, CCDS59521.1, CCDS75895.1	9q32-q33.3	2008-02-05			ENSG00000095303	ENSG00000095303	1.14.99.1		9604	protein-coding gene	gene with protein product		176805				2512924, 1907252	Standard	NM_000962		Approved	COX1, PGHS-1, PTGHS	uc004bmg.2	P23219	OTTHUMG00000020605	ENST00000362012.2:c.1653C>T	9.37:g.125154676C>T						PTGS1_ENST00000373698.5_Silent_p.G442G|PTGS1_ENST00000540753.1_Silent_p.G489G|PTGS1_ENST00000223423.4_Silent_p.G514G	p.G551G	NM_000962.2|NM_001271164.1|NM_080591.1	NP_000953.2|NP_001258093.1|NP_542158.1	P23219	PGH1_HUMAN			11	1658	+			551					A8K1V7|B4DHQ2|B4E2S5|Q15122|Q3HY28|Q3HY29|Q5T7T6|Q5T7T7|Q5T7T8	Silent	SNP	ENST00000362012.2	37	c.1653C>T	CCDS6842.1																																																																																				0.552	PTGS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053933.1			33	39	0	0	0	1	0	33	39					T	125154676	C	T	125154676	2	4	435	1	0	0	0	0	0	0	0	1	12755	755	27	1		1	PTGS1	9	125154676	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	403228	125154676	16058755	4424	25349											
OR1N1	138883	broad.mit.edu	37	chr9	125289100	125289100	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acaaccgagccatgaggaacGtgtgagtcagggcaacgata	14	5	13	9	3	1	2	1	2	0	0	1	5	1	3	2	2	4	1	2	2	4	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:125289100G>A	ENST00000304880.2	-	1	472	c.473C>T	c.(472-474)aCg>aTg	p.T158M		NM_012363.1	NP_036495.1	Q8NGS0	OR1N1_HUMAN	olfactory receptor, family 1, subfamily N, member 1	158						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|central_nervous_system(1)|large_intestine(2)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15						CATGAGGAACGTGTGAGTCAG	0.532																																						ENST00000304880.2																			0				breast(2)|central_nervous_system(1)|large_intestine(2)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15						c.(472-474)aCg>aTg		olfactory receptor, family 1, subfamily N, member 1							113	92	99					9																	125289100		2203	4300	6503	SO:0001583	missense	138883				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:125289100G>A	U86216	CCDS6844.1	9q34.11	2012-08-09			ENSG00000171505	ENSG00000171505		"GPCR / Class A : Olfactory receptors"	8221	protein-coding gene	gene with protein product				OR1N3		9500546	Standard	NM_012363		Approved	OR1-26	uc004bmn.1	Q8NGS0	OTTHUMG00000020608	ENST00000304880.2:c.473C>T	9.37:g.125289100G>A	ENSP00000306974:p.Thr158Met						p.T158M	NM_012363.1	NP_036495.1	Q8NGS0	OR1N1_HUMAN			1	472	-			158					A3KFM1|O43870|Q6IF16|Q96R93	Missense_Mutation	SNP	ENST00000304880.2	37	c.473C>T	CCDS6844.1	.	.	.	.	.	.	.	.	.	.	G	14.74	2.625522	0.46840	.	.	ENSG00000171505	ENST00000304880	T	0.00265	8.39	3.75	2.82	0.32997	GPCR, rhodopsin-like superfamily (1);	0.000000	0.36703	U	0.002452	T	0.00468	0.0015	M	0.82193	2.58	0.09310	N	1	D	0.89917	1.0	D	0.72982	0.979	T	0.35895	-0.9770	10	0.87932	D	0	.	7.5613	0.27853	0.2064:0.0:0.7936:0.0	.	158	Q8NGS0	OR1N1_HUMAN	M	158	ENSP00000306974:T158M	ENSP00000306974:T158M	T	-	2	0	OR1N1	124328921	0.001000	0.12720	0.388000	0.26195	0.028000	0.11728	1.058000	0.30504	1.979000	0.57680	0.545000	0.68477	ACG		0.532	OR1N1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053938.1			10	11	0	0	0	1	0	10	11					A	125289100	G	A	125289100	3	1	435	1	0	0	0	0	1	0	0	0	10969	1145	40	1	466	1	OR1N1	9	125289100	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	134424	125289100	15924331	4425	25350											
OR5C1	392391	broad.mit.edu	37	chr9	125551311	125551311	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcgtgtggccctcttcctgAcctgcctgcctgtctacctg	2	13	10	16	1	2	1	0	1	2	0	3	1	3	1	6	1	4	0	6	1	1	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:125551311A>G	ENST00000373680.2	+	1	162	c.100A>G	c.(100-102)Acc>Gcc	p.T34A		NM_001001923.1	NP_001001923.1	Q8NGR4	OR5C1_HUMAN	olfactory receptor, family 5, subfamily C, member 1	34						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(1)|large_intestine(5)|lung(6)|pancreas(1)|prostate(5)|skin(1)	20						CCTCTTCCTGACCTGCCTGCC	0.607																																						ENST00000373680.2																			0				NS(1)|endometrium(1)|large_intestine(5)|lung(6)|pancreas(1)|prostate(5)|skin(1)	20						c.(100-102)Acc>Gcc		olfactory receptor, family 5, subfamily C, member 1							99	92	94					9																	125551311		2203	4300	6503	SO:0001583	missense	392391				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:125551311A>G	AF399514	CCDS35131.1	9q34.2	2012-08-09			ENSG00000148215	ENSG00000148215		"GPCR / Class A : Olfactory receptors"	8331	protein-coding gene	gene with protein product				OR5C2P			Standard	NM_001001923		Approved	OR9-F, hRPK-465_F_21	uc011lzd.2	Q8NGR4	OTTHUMG00000020622	ENST00000373680.2:c.100A>G	9.37:g.125551311A>G	ENSP00000362784:p.Thr34Ala						p.T34A	NM_001001923.1	NP_001001923.1	Q8NGR4	OR5C1_HUMAN			1	162	+			34					B2RN54|B9EGT0|Q96RC4	Missense_Mutation	SNP	ENST00000373680.2	37	c.100A>G	CCDS35131.1	.	.	.	.	.	.	.	.	.	.	A	12.48	1.950199	0.34377	.	.	ENSG00000148215	ENST00000373680	T	0.02944	4.1	5.29	-2.62	0.06152	.	0.684052	0.11890	U	0.519690	T	0.01592	0.0051	N	0.05031	-0.125	0.09310	N	1	B	0.15473	0.013	B	0.09377	0.004	T	0.44544	-0.9321	10	0.59425	D	0.04	.	8.8888	0.35420	0.3709:0.1248:0.5044:0.0	.	34	Q8NGR4	OR5C1_HUMAN	A	34	ENSP00000362784:T34A	ENSP00000362784:T34A	T	+	1	0	OR5C1	124591132	0.000000	0.05858	0.923000	0.36655	0.830000	0.47004	-2.434000	0.01021	-0.345000	0.08325	0.528000	0.53228	ACC		0.607	OR5C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053953.1			19	25	0	0	0	1	0	19	25					G	125551311	A	G	125551311	3	3	435	1	0	0	0	0	1	0	0	0	11153	275	10	4	102	4	OR5C1	9	125551311	Missense_Mutation	SNP	A	TCGA-XK-AAIW-01A-11D-A41K-08	262211	125551311	15662120	4426	25351											
RC3H2	54542	broad.mit.edu	37	chr9	125621135	125621135	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acataggtgggcgccagatgCgcctgctgtcgtacacagga	9	7	14	11	3	0	1	0	0	0	1	1	2	0	2	2	3	3	2	2	3	2	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:125621135C>T	ENST00000373670.1	-	11	2696	c.2096G>A	c.(2095-2097)cGc>cAc	p.R699H	RC3H2_ENST00000357244.2_Missense_Mutation_p.R699H|RC3H2_ENST00000423239.2_Missense_Mutation_p.R699H			Q9HBD1	RC3H2_HUMAN	ring finger and CCCH-type domains 2	699	Pro-rich.				B cell homeostasis (GO:0001782)|limb development (GO:0060173)|lung alveolus development (GO:0048286)|lymph node development (GO:0048535)|multicellular organism growth (GO:0035264)|positive regulation of NIK/NF-kappaB signaling (GO:1901224)|post-embryonic development (GO:0009791)|posttranscriptional regulation of gene expression (GO:0010608)|protein polyubiquitination (GO:0000209)|spleen development (GO:0048536)|T cell homeostasis (GO:0043029)|T cell proliferation (GO:0042098)|T follicular helper cell differentiation (GO:0061470)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|endometrium(6)|large_intestine(4)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	33						GCGCCAGATGCGCCTGCTGTC	0.488																																						ENST00000373670.1																			0				breast(3)|central_nervous_system(1)|endometrium(6)|large_intestine(4)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	33						c.(2095-2097)cGc>cAc		ring finger and CCCH-type domains 2							136	137	136					9																	125621135		1945	4145	6090	SO:0001583	missense	54542					cell surface|endomembrane system|membrane|membrane fraction|perinuclear region of cytoplasm	DNA binding|zinc ion binding	g.chr9:125621135C>T	AK000308	CCDS43874.1, CCDS48014.1	9q34	2013-01-18	2010-09-15	2007-02-06	ENSG00000056586	ENSG00000056586		"RING-type (C3HC4) zinc fingers", "Zinc fingers, CCCH-type domain containing"	21461	protein-coding gene	gene with protein product		615231	"membrane associated DNA binding protein", "ring finger and CCCH-type zinc finger domains 2"	MNAB		10938276	Standard	NM_001100588		Approved	FLJ20301, FLJ20713, RNF164	uc010mwc.1	Q9HBD1	OTTHUMG00000020632	ENST00000373670.1:c.2096G>A	9.37:g.125621135C>T	ENSP00000362774:p.Arg699His					RC3H2_ENST00000357244.2_Missense_Mutation_p.R699H|RC3H2_ENST00000423239.2_Missense_Mutation_p.R699H	p.R699H			Q9HBD1	RC3H2_HUMAN			11	2696	-			699			Pro-rich.		Q4VXB1|Q5JPD7|Q86ST6|Q8N3D6|Q96F27|Q9H5J2|Q9HBD2|Q9NWN9|Q9NXE1	Missense_Mutation	SNP	ENST00000373670.1	37	c.2096G>A	CCDS43874.1	.	.	.	.	.	.	.	.	.	.	C	25.1	4.603000	0.87157	.	.	ENSG00000056586	ENST00000373670;ENST00000357244;ENST00000373663;ENST00000423239	T;T;T	0.55413	0.52;0.52;0.56	5.57	5.57	0.84162	.	0.000000	0.85682	D	0.000000	T	0.63141	0.2486	L	0.34521	1.04	0.80722	D	1	D;D	0.76494	0.998;0.999	D;D	0.74674	0.964;0.984	T	0.63888	-0.6535	10	0.54805	T	0.06	-24.0701	16.6978	0.85340	0.0:1.0:0.0:0.0	.	699;699	Q9HBD1;Q9HBD1-4	RC3H2_HUMAN;.	H	699;699;570;699	ENSP00000362774:R699H;ENSP00000349783:R699H;ENSP00000411767:R699H	ENSP00000349783:R699H	R	-	2	0	RC3H2	124660956	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	6.519000	0.73768	2.610000	0.88304	0.655000	0.94253	CGC		0.488	RC3H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053966.1	NM_018835		29	49	0	0	0	1	0	29	49					T	125621135	C	T	125621135	3	4	435	1	0	0	0	0	1	0	0	0	13167	768	27	1	1597	1	RC3H2	9	125621135	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	69824	125621135	15592296	4427	25352											
GPR21	2844	broad.mit.edu	37	chr9	125797009	125797009	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtgatttttgtatttcactGtgcacctttgttgaaccatc	7	19	7	8	0	1	2	1	2	0	0	2	2	1	2	2	0	2	3	2	0	2	6			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:125797009G>A	ENST00000373642.1	+	1	204	c.164G>A	c.(163-165)tGt>tAt	p.C55Y	RABGAP1_ENST00000373647.4_Intron|RABGAP1_ENST00000493854.1_Intron|RABGAP1_ENST00000373643.5_Intron	NM_005294.1	NP_005285.1	Q99679	GPR21_HUMAN	G protein-coupled receptor 21	55					G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|negative regulation of insulin receptor signaling pathway (GO:0046627)|positive regulation of multicellular organism growth (GO:0040018)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)			endometrium(3)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|stomach(1)|urinary_tract(2)	15						GTATTTCACTGTGCACCTTTG	0.363																																						ENST00000373642.1																			0				endometrium(3)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|stomach(1)|urinary_tract(2)	15						c.(163-165)tGt>tAt		G protein-coupled receptor 21							209	180	190					9																	125797009		2203	4300	6503	SO:0001583	missense	2844					integral to plasma membrane	G-protein coupled receptor activity	g.chr9:125797009G>A	BC066885	CCDS6849.1	9q33	2012-08-21			ENSG00000188394	ENSG00000188394		"GPCR / Class A : Orphans"	4476	protein-coding gene	gene with protein product		601909					Standard	NM_005294		Approved		uc011lzk.3	Q99679	OTTHUMG00000020631	ENST00000373642.1:c.164G>A	9.37:g.125797009G>A	ENSP00000362746:p.Cys55Tyr					RABGAP1_ENST00000373643.5_Intron|RABGAP1_ENST00000493854.1_Intron|RABGAP1_ENST00000373647.4_Intron	p.C55Y	NM_005294.1	NP_005285.1	Q99679	GPR21_HUMAN			1	204	+			55					B2R8W9|Q6NXU2	Missense_Mutation	SNP	ENST00000373642.1	37	c.164G>A	CCDS6849.1	.	.	.	.	.	.	.	.	.	.	G	16.59	3.165875	0.57476	.	.	ENSG00000188394	ENST00000373642;ENST00000412269	T	0.36699	1.24	5.54	5.54	0.83059	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	U	0.000000	T	0.46658	0.1404	L	0.41415	1.275	0.80722	D	1	P	0.36086	0.536	P	0.49226	0.603	T	0.22871	-1.0204	10	0.36615	T	0.2	-10.3652	19.478	0.94996	0.0:0.0:1.0:0.0	.	55	Q99679	GPR21_HUMAN	Y	55	ENSP00000362746:C55Y	ENSP00000362746:C55Y	C	+	2	0	GPR21	124836830	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.476000	0.97823	2.603000	0.88011	0.563000	0.77884	TGT		0.363	GPR21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053965.1	NM_005294		4	92	0	0	0	1	0	4	92					A	125797009	G	A	125797009	3	1	435	1	0	0	0	0	1	0	0	0	6681	1377	48	3	166	3	GPR21	9	125797009	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	175874	125797009	15416422	4428	25353											
GPR21	2844	broad.mit.edu	37	chr9	125797091	125797091	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctttttgttggggtgagctgCgtggtcccttctttatcact	3	18	11	9	1	2	1	1	1	1	0	3	1	3	1	1	3	2	2	1	3	1	6			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:125797091C>T	ENST00000373642.1	+	1	286	c.246C>T	c.(244-246)tgC>tgT	p.C82C	RABGAP1_ENST00000373647.4_Intron|RABGAP1_ENST00000493854.1_Intron|RABGAP1_ENST00000373643.5_Intron	NM_005294.1	NP_005285.1	Q99679	GPR21_HUMAN	G protein-coupled receptor 21	82					G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|negative regulation of insulin receptor signaling pathway (GO:0046627)|positive regulation of multicellular organism growth (GO:0040018)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)			endometrium(3)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|stomach(1)|urinary_tract(2)	15						GGGTGAGCTGCGTGGTCCCTT	0.433																																						ENST00000373642.1																			0				endometrium(3)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|stomach(1)|urinary_tract(2)	15						c.(244-246)tgC>tgT		G protein-coupled receptor 21							143	122	129					9																	125797091		2203	4300	6503	SO:0001819	synonymous_variant	2844					integral to plasma membrane	G-protein coupled receptor activity	g.chr9:125797091C>T	BC066885	CCDS6849.1	9q33	2012-08-21			ENSG00000188394	ENSG00000188394		"GPCR / Class A : Orphans"	4476	protein-coding gene	gene with protein product		601909					Standard	NM_005294		Approved		uc011lzk.3	Q99679	OTTHUMG00000020631	ENST00000373642.1:c.246C>T	9.37:g.125797091C>T						RABGAP1_ENST00000373643.5_Intron|RABGAP1_ENST00000493854.1_Intron|RABGAP1_ENST00000373647.4_Intron	p.C82C	NM_005294.1	NP_005285.1	Q99679	GPR21_HUMAN			1	286	+			82					B2R8W9|Q6NXU2	Silent	SNP	ENST00000373642.1	37	c.246C>T	CCDS6849.1																																																																																				0.433	GPR21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053965.1	NM_005294		27	35	0	0	0	1	0	27	35					T	125797091	C	T	125797091	2	4	435	1	0	0	0	0	0	0	0	1	6681	776	27	1		1	GPR21	9	125797091	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	82	125797091	15416340	4429	25354											
CRB2	286204	broad.mit.edu	37	chr9	126136916	126136916	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgcctcgatggcagcccaTgtgagggtggctctcccgct	4	9	13	15	2	1	1	0	1	1	0	3	2	1	1	4	3	2	3	4	3	0	0	rs202022214	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:126136916T>C	ENST00000373631.3	+	11	3449	c.3448T>C	c.(3448-3450)Tgt>Cgt	p.C1150R	CRB2_ENST00000373629.2_Missense_Mutation_p.C818R	NM_173689.5	NP_775960.4	Q5IJ48	CRUM2_HUMAN	crumbs family member 2	1150	EGF-like 14. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cardiovascular system development (GO:0072358)|maintenance of epithelial cell apical/basal polarity (GO:0045199)|mesoderm formation (GO:0001707)|negative regulation of endopeptidase activity (GO:0010951)|notochord formation (GO:0014028)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|somitogenesis (GO:0001756)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	calcium ion binding (GO:0005509)|enzyme binding (GO:0019899)			NS(2)|breast(1)|cervix(1)|endometrium(2)|lung(11)|ovary(1)|prostate(2)|skin(3)	23						TGGCAGCCCATGTGAGGGTGG	0.632													T|||	2	0.000399361	0	0	5008	,	,		20183	0.002		0	False		,,,				2504	0					ENST00000373631.3																			0				NS(2)|breast(1)|cervix(1)|endometrium(2)|lung(11)|ovary(1)|prostate(2)|skin(3)	23						c.(3448-3450)Tgt>Cgt		crumbs homolog 2 (Drosophila)							65	56	59					9																	126136916		2203	4300	6503	SO:0001583	missense	286204					extracellular region|integral to membrane|plasma membrane	calcium ion binding	g.chr9:126136916T>C	AK095783	CCDS6852.2	9q33.2	2014-02-06	2014-02-06		ENSG00000148204	ENSG00000148204			18688	protein-coding gene	gene with protein product		609720	"crumbs homolog 2 (Drosophila)"			14767562	Standard	XM_005251934		Approved	FLJ38464, FLJ16786	uc004bnx.1	Q5IJ48	OTTHUMG00000020638	ENST00000373631.3:c.3448T>C	9.37:g.126136916T>C	ENSP00000362734:p.Cys1150Arg					CRB2_ENST00000373629.2_Missense_Mutation_p.C818R	p.C1150R	NM_173689.5	NP_775960.4	Q5IJ48	CRUM2_HUMAN			11	3449	+			1150			EGF-like 14.		A2A3N4|Q0QD46|Q5JS41|Q5JS43|Q6ZTA9|Q6ZWI6	Missense_Mutation	SNP	ENST00000373631.3	37	c.3448T>C	CCDS6852.2	2	9.157509157509158E-4	0	0.0	0	0.0	2	0.0034965034965034965	0	0.0	.	19.73	3.882749	0.72410	.	.	ENSG00000148204	ENST00000373631;ENST00000373629	D;D	0.95103	-2.32;-3.61	5.02	5.02	0.67125	Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.46145	D	0.000311	D	0.98033	0.9352	H	0.95402	3.665	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.99342	1.0912	10	0.87932	D	0	.	14.7426	0.69467	0.0:0.0:0.0:1.0	.	1150	Q5IJ48	CRUM2_HUMAN	R	1150;818	ENSP00000362734:C1150R;ENSP00000362732:C818R	ENSP00000362732:C818R	C	+	1	0	CRB2	125176737	1.000000	0.71417	0.044000	0.18714	0.003000	0.03518	6.082000	0.71318	1.878000	0.54408	0.459000	0.35465	TGT		0.632	CRB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053990.3	NM_173689		8	20	0	0	0	1	0	8	20					C	126136916	T	C	126136916	3	2	435	1	0	0	0	0	1	0	0	0	3849	1464	51	4	3490	4	CRB2	9	126136916	Missense_Mutation	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	339825	126136916	15076515	4430	25355											
DENND1A	57706	broad.mit.edu	37	chr9	126144481	126144481	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gccttgggggacaacaccagGcaggagccctggactcaggg	9	4	16	12	0	1	0	1	0	0	0	1	3	1	3	3	6	2	1	3	6	1	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:126144481G>A	ENST00000373624.2	-	22	2461	c.2260C>T	c.(2260-2262)Cct>Tct	p.P754S	DENND1A_ENST00000542603.1_Missense_Mutation_p.P539S|DENND1A_ENST00000473039.1_5'UTR|DENND1A_ENST00000394219.3_Missense_Mutation_p.P765S	NM_020946.1	NP_065997.1	Q8TEH3	DEN1A_HUMAN	DENN/MADD domain containing 1A	754	Pro-rich.				endocytosis (GO:0006897)|positive regulation of Rab GTPase activity (GO:0032851)|protein transport (GO:0015031)|regulation of Rab protein signal transduction (GO:0032483)|synaptic vesicle endocytosis (GO:0048488)	cell junction (GO:0030054)|clathrin-coated vesicle (GO:0030136)|clathrin-coated vesicle membrane (GO:0030665)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|synapse (GO:0045202)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|liver(2)|lung(18)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43						ACAACACCAGGCAGGAGCCCT	0.711																																						ENST00000373624.2																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|liver(2)|lung(18)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43						c.(2260-2262)Cct>Tct		DENN/MADD domain containing 1A							16	21	19					9																	126144481		2199	4297	6496	SO:0001583	missense	57706					cell junction|clathrin coated vesicle membrane|presynaptic membrane	guanyl-nucleotide exchange factor activity	g.chr9:126144481G>A	AB046828	CCDS35133.1, CCDS35134.1	9q34.11	2012-10-03	2005-08-17	2005-08-17	ENSG00000119522	ENSG00000119522		"DENN/MADD domain containing"	29324	protein-coding gene	gene with protein product		613633	"KIAA1608"	KIAA1608		10997877	Standard	XM_005252109		Approved	FLJ21129, FAM31A	uc004bnz.1	Q8TEH3	OTTHUMG00000020643	ENST00000373624.2:c.2260C>T	9.37:g.126144481G>A	ENSP00000362727:p.Pro754Ser					DENND1A_ENST00000542603.1_Missense_Mutation_p.P539S|DENND1A_ENST00000473039.1_5'UTR|DENND1A_ENST00000394219.3_Missense_Mutation_p.P765S	p.P754S	NM_020946.1	NP_065997.1	Q8TEH3	DEN1A_HUMAN			22	2461	-			754			Pro-rich.		A8MZA3|B1AM80|B7Z3C8|B7Z669|D3PFD3|Q05C88|Q5VWF0|Q6PJZ5|Q8IVD6|Q9H796	Missense_Mutation	SNP	ENST00000373624.2	37	c.2260C>T	CCDS35133.1	.	.	.	.	.	.	.	.	.	.	G	2.067	-0.413913	0.04799	.	.	ENSG00000119522	ENST00000373624;ENST00000542603;ENST00000394219	T;T;T	0.26373	3.18;1.74;3.05	4.63	1.74	0.24563	.	0.638418	0.15794	N	0.244297	T	0.17280	0.0415	L	0.54323	1.7	0.18873	N	0.999987	B;B;B;B	0.09022	0.002;0.002;0.0;0.0	B;B;B;B	0.10450	0.005;0.005;0.001;0.001	T	0.34700	-0.9818	10	0.08179	T	0.78	-7.1712	3.1542	0.06498	0.3296:0.2165:0.454:0.0	.	765;755;754;617	Q8TEH3-6;Q8TEH3-7;Q8TEH3;Q9HCG4	.;.;DEN1A_HUMAN;.	S	754;539;765	ENSP00000362727:P754S;ENSP00000437457:P539S;ENSP00000377766:P765S	ENSP00000362727:P754S	P	-	1	0	DENND1A	125184302	0.744000	0.28250	0.032000	0.17829	0.010000	0.07245	0.156000	0.16382	0.382000	0.24878	0.557000	0.71058	CCT		0.711	DENND1A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053997.1	NM_024820		7	9	0	0	0	1	0	7	9					A	126144481	G	A	126144481	3	1	435	1	0	0	0	0	1	0	0	0	4426	1203	42	3	773	3	DENND1A	9	126144481	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	7565	126144481	15068950	4431	25356											
DENND1A	57706	broad.mit.edu	37	chr9	126212986	126212986	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aagtaccttttgcttcaagcGgtttttcacctcttttattc	7	19	5	10	1	3	0	2	0	1	0	4	0	3	0	2	1	3	3	2	1	4	9			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:126212986G>A	ENST00000373624.2	-	18	1543	c.1342C>T	c.(1342-1344)Cgc>Tgc	p.R448C	DENND1A_ENST00000542603.1_Missense_Mutation_p.R190C|DENND1A_ENST00000473039.1_5'UTR|DENND1A_ENST00000373618.1_Missense_Mutation_p.R416C|DENND1A_ENST00000394215.2_Missense_Mutation_p.R418C|DENND1A_ENST00000373620.3_Missense_Mutation_p.R448C|DENND1A_ENST00000394219.3_Missense_Mutation_p.R416C	NM_020946.1	NP_065997.1	Q8TEH3	DEN1A_HUMAN	DENN/MADD domain containing 1A	448					endocytosis (GO:0006897)|positive regulation of Rab GTPase activity (GO:0032851)|protein transport (GO:0015031)|regulation of Rab protein signal transduction (GO:0032483)|synaptic vesicle endocytosis (GO:0048488)	cell junction (GO:0030054)|clathrin-coated vesicle (GO:0030136)|clathrin-coated vesicle membrane (GO:0030665)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|synapse (GO:0045202)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|liver(2)|lung(18)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43						TGCTTCAAGCGGTTTTTCACC	0.368																																						ENST00000373624.2																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|liver(2)|lung(18)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43						c.(1342-1344)Cgc>Tgc		DENN/MADD domain containing 1A							175	156	163					9																	126212986		2202	4300	6502	SO:0001583	missense	57706					cell junction|clathrin coated vesicle membrane|presynaptic membrane	guanyl-nucleotide exchange factor activity	g.chr9:126212986G>A	AB046828	CCDS35133.1, CCDS35134.1	9q34.11	2012-10-03	2005-08-17	2005-08-17	ENSG00000119522	ENSG00000119522		"DENN/MADD domain containing"	29324	protein-coding gene	gene with protein product		613633	"KIAA1608"	KIAA1608		10997877	Standard	XM_005252109		Approved	FLJ21129, FAM31A	uc004bnz.1	Q8TEH3	OTTHUMG00000020643	ENST00000373624.2:c.1342C>T	9.37:g.126212986G>A	ENSP00000362727:p.Arg448Cys					DENND1A_ENST00000542603.1_Missense_Mutation_p.R190C|DENND1A_ENST00000473039.1_5'UTR|DENND1A_ENST00000394215.2_Missense_Mutation_p.R418C|DENND1A_ENST00000373620.3_Missense_Mutation_p.R448C|DENND1A_ENST00000394219.3_Missense_Mutation_p.R416C|DENND1A_ENST00000373618.1_Missense_Mutation_p.R416C	p.R448C	NM_020946.1	NP_065997.1	Q8TEH3	DEN1A_HUMAN			18	1543	-			448					A8MZA3|B1AM80|B7Z3C8|B7Z669|D3PFD3|Q05C88|Q5VWF0|Q6PJZ5|Q8IVD6|Q9H796	Missense_Mutation	SNP	ENST00000373624.2	37	c.1342C>T	CCDS35133.1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.254101	0.80135	.	.	ENSG00000119522	ENST00000373624;ENST00000542603;ENST00000394219;ENST00000373620;ENST00000394215;ENST00000373618	T;T;T;T;T;T	0.27557	3.15;1.66;3.06;3.2;3.06;3.06	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	T	0.61299	0.2336	M	0.81497	2.545	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.85130	0.988;0.988;0.969;0.99;0.983;0.973;0.997	T	0.63834	-0.6547	10	0.66056	D	0.02	-16.7059	19.8788	0.96888	0.0:0.0:1.0:0.0	.	416;406;416;418;448;448;268	Q8TEH3-6;Q8TEH3-7;Q8TEH3-4;Q8TEH3-5;Q8TEH3-2;Q8TEH3;Q9HCG4	.;.;.;.;.;DEN1A_HUMAN;.	C	448;190;416;448;418;416	ENSP00000362727:R448C;ENSP00000437457:R190C;ENSP00000377766:R416C;ENSP00000362722:R448C;ENSP00000377763:R418C;ENSP00000362720:R416C	ENSP00000362720:R416C	R	-	1	0	DENND1A	125252807	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.240000	0.95396	2.683000	0.91414	0.655000	0.94253	CGC		0.368	DENND1A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053997.1	NM_024820		7	44	0	0	0	1	0	7	44					A	126212986	G	A	126212986	3	1	435	1	0	0	0	0	1	0	0	0	4426	1116	39	2	1814	2	DENND1A	9	126212986	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	68505	126212986	15000445	4432	25357											
NEK6	10783	broad.mit.edu	37	chr9	127088703	127088703	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggagcacatgcattcacgccGggtgatgcaccgaggtacgt	9	7	14	11	4	1	1	1	1	0	0	1	3	1	2	2	3	4	4	2	3	1	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:127088703G>A	ENST00000320246.5	+	6	645	c.500G>A	c.(499-501)cGg>cAg	p.R167Q	NEK6_ENST00000373600.3_Missense_Mutation_p.R201Q|NEK6_ENST00000545174.1_Missense_Mutation_p.R167Q|NEK6_ENST00000394199.2_Missense_Mutation_p.R201Q|NEK6_ENST00000540326.1_Missense_Mutation_p.R185Q|NEK6_ENST00000546191.1_Missense_Mutation_p.R167Q|NEK6_ENST00000373603.1_Missense_Mutation_p.R167Q|NEK6_ENST00000539416.1_Missense_Mutation_p.R192Q	NM_014397.5	NP_055212.2	Q9HC98	NEK6_HUMAN	NIMA-related kinase 6	167	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|chromosome segregation (GO:0007059)|cytokinesis (GO:0000910)|G2 DNA damage checkpoint (GO:0031572)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope disassembly (GO:0007077)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of cellular senescence (GO:2000772)|regulation of mitotic cell cycle (GO:0007346)|regulation of mitotic metaphase/anaphase transition (GO:0030071)|signal transduction (GO:0007165)|spindle assembly (GO:0051225)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule (GO:0005874)|nucleus (GO:0005634)	ATP binding (GO:0005524)|kinesin binding (GO:0019894)|magnesium ion binding (GO:0000287)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|signal transducer activity (GO:0004871)			endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|skin(1)|stomach(1)	15						CATTCACGCCGGGTGATGCAC	0.622																																					NSCLC(122;934 1785 18647 44295 45571)	ENST00000373600.3																			0				endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|skin(1)|stomach(1)	15						c.(601-603)cGg>cAg		NIMA-related kinase 6							73	64	67					9																	127088703		2203	4300	6503	SO:0001583	missense	10783				apoptosis|cell division|chromosome segregation|mitosis|peptidyl-serine phosphorylation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of mitotic metaphase/anaphase transition	cytoplasm|nucleus	ATP binding|kinesin binding|magnesium ion binding|protein kinase binding|protein serine/threonine kinase activity|signal transducer activity	g.chr9:127088703G>A	AF087909	CCDS6854.1, CCDS48015.1, CCDS55338.1, CCDS55339.1	9q33.3-q34.11	2012-11-15	2012-11-15		ENSG00000119408	ENSG00000119408			7749	protein-coding gene	gene with protein product	"putative serine-threonine protein kinase"	604884	"NIMA (never in mitosis gene a)-related kinase 6"			10702691	Standard	NM_001145001		Approved	SID6-1512	uc004boh.3	Q9HC98	OTTHUMG00000020650	ENST00000320246.5:c.500G>A	9.37:g.127088703G>A	ENSP00000319734:p.Arg167Gln					NEK6_ENST00000394199.2_Missense_Mutation_p.R201Q|NEK6_ENST00000320246.5_Missense_Mutation_p.R167Q|NEK6_ENST00000546191.1_Missense_Mutation_p.R167Q|NEK6_ENST00000540326.1_Missense_Mutation_p.R185Q|NEK6_ENST00000373603.1_Missense_Mutation_p.R167Q|NEK6_ENST00000539416.1_Missense_Mutation_p.R192Q|NEK6_ENST00000545174.1_Missense_Mutation_p.R167Q	p.R201Q	NM_001145001.2	NP_001138473.1	Q9HC98	NEK6_HUMAN			7	817	+			167			Protein kinase.		B7Z2D9|Q5TBG3|Q5TBG9|Q6FG86|Q6IAR3|Q96E83|Q9ULX2	Missense_Mutation	SNP	ENST00000320246.5	37	c.602G>A	CCDS6854.1	.	.	.	.	.	.	.	.	.	.	G	35	5.562686	0.96527	.	.	ENSG00000119408	ENST00000373603;ENST00000540326;ENST00000373600;ENST00000320246;ENST00000373601;ENST00000545174;ENST00000444973;ENST00000454453;ENST00000373596;ENST00000425237;ENST00000394199;ENST00000546191;ENST00000422297;ENST00000539416;ENST00000447379	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.39997	3.12;3.12;3.12;3.12;3.12;1.82;1.05;3.12;1.82;3.12;3.12;1.82;3.12;3.12	5.99	5.99	0.97316	Serine/threonine-protein kinase-like domain (1);Serine-threonine/tyrosine-protein kinase (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.52058	0.1711	L	0.42686	1.345	0.80722	D	1	P;D;D;D	0.58970	0.923;0.984;0.964;0.957	P;P;P;P	0.53722	0.63;0.733;0.73;0.493	T	0.48115	-0.9063	10	0.59425	D	0.04	.	19.4659	0.94939	0.0:0.0:1.0:0.0	.	192;201;167;185	Q9HC98-4;Q9HC98-2;Q9HC98;Q9HC98-3	.;.;NEK6_HUMAN;.	Q	167;185;201;167;99;167;167;99;167;167;201;167;167;192;167	ENSP00000362705:R167Q;ENSP00000441469:R185Q;ENSP00000362702:R201Q;ENSP00000319734:R167Q;ENSP00000442636:R167Q;ENSP00000389517:R167Q;ENSP00000405215:R99Q;ENSP00000362698:R167Q;ENSP00000403087:R167Q;ENSP00000377749:R201Q;ENSP00000441426:R167Q;ENSP00000411401:R167Q;ENSP00000439651:R192Q;ENSP00000403414:R167Q	ENSP00000319734:R167Q	R	+	2	0	NEK6	126128524	1.000000	0.71417	0.515000	0.27774	0.869000	0.49853	9.274000	0.95731	2.840000	0.97914	0.655000	0.94253	CGG		0.622	NEK6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054016.1	NM_014397		18	26	0	0	0	1	0	18	26					A	127088703	G	A	127088703	3	1	435	1	0	0	0	0	1	0	0	0	10328	1116	39	2	703	2	NEK6	9	127088703	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	875717	127088703	14124728	4433	25358											
NEK6	10783	broad.mit.edu	37	chr9	127113178	127113178	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cagagacctgacatcggataCgtgcaccaggtggccaagca	12	5	12	12	2	0	2	0	1	0	1	1	4	0	3	3	3	3	2	3	3	2	1	rs375270617		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:127113178C>T	ENST00000320246.5	+	10	1039	c.894C>T	c.(892-894)taC>taT	p.Y298Y	NEK6_ENST00000373600.3_Silent_p.Y332Y|NEK6_ENST00000545174.1_Silent_p.Y298Y|NEK6_ENST00000394199.2_Silent_p.Y332Y|NEK6_ENST00000540326.1_Silent_p.Y316Y|NEK6_ENST00000546191.1_Silent_p.Y298Y|AL137846.1_ENST00000583657.1_RNA|NEK6_ENST00000373603.1_Silent_p.Y298Y|PSMB7_ENST00000498485.1_5'Flank|NEK6_ENST00000539416.1_Silent_p.Y323Y	NM_014397.5	NP_055212.2	Q9HC98	NEK6_HUMAN	NIMA-related kinase 6	298	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|chromosome segregation (GO:0007059)|cytokinesis (GO:0000910)|G2 DNA damage checkpoint (GO:0031572)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope disassembly (GO:0007077)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of cellular senescence (GO:2000772)|regulation of mitotic cell cycle (GO:0007346)|regulation of mitotic metaphase/anaphase transition (GO:0030071)|signal transduction (GO:0007165)|spindle assembly (GO:0051225)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule (GO:0005874)|nucleus (GO:0005634)	ATP binding (GO:0005524)|kinesin binding (GO:0019894)|magnesium ion binding (GO:0000287)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|signal transducer activity (GO:0004871)	p.Y291Y(1)		endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|skin(1)|stomach(1)	15						ACATCGGATACGTGCACCAGG	0.542																																					NSCLC(122;934 1785 18647 44295 45571)	ENST00000373600.3																			1	Substitution - coding silent(1)	p.Y291Y(1)	ovary(1)	endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|skin(1)|stomach(1)	15						c.(994-996)taC>taT		NIMA-related kinase 6		C	,,,,,,	0,4406		0,0,2203	109	80	90		996,948,894,969,894,996,894	-7.7	0.1	9		90	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	NEK6	NM_001145001.2,NM_001166167.1,NM_001166168.1,NM_001166169.1,NM_001166170.1,NM_001166171.1,NM_014397.5	,,,,,,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,,,,,,	332/348,316/332,298/314,323/339,298/314,332/348,298/314	127113178	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	10783				apoptosis|cell division|chromosome segregation|mitosis|peptidyl-serine phosphorylation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of mitotic metaphase/anaphase transition	cytoplasm|nucleus	ATP binding|kinesin binding|magnesium ion binding|protein kinase binding|protein serine/threonine kinase activity|signal transducer activity	g.chr9:127113178C>T	AF087909	CCDS6854.1, CCDS48015.1, CCDS55338.1, CCDS55339.1	9q33.3-q34.11	2012-11-15	2012-11-15		ENSG00000119408	ENSG00000119408			7749	protein-coding gene	gene with protein product	"putative serine-threonine protein kinase"	604884	"NIMA (never in mitosis gene a)-related kinase 6"			10702691	Standard	NM_001145001		Approved	SID6-1512	uc004boh.3	Q9HC98	OTTHUMG00000020650	ENST00000320246.5:c.894C>T	9.37:g.127113178C>T						NEK6_ENST00000394199.2_Silent_p.Y332Y|NEK6_ENST00000320246.5_Silent_p.Y298Y|NEK6_ENST00000546191.1_Silent_p.Y298Y|NEK6_ENST00000540326.1_Silent_p.Y316Y|NEK6_ENST00000373603.1_Silent_p.Y298Y|NEK6_ENST00000539416.1_Silent_p.Y323Y|NEK6_ENST00000545174.1_Silent_p.Y298Y	p.Y332Y	NM_001145001.2	NP_001138473.1	Q9HC98	NEK6_HUMAN			11	1211	+			298					B7Z2D9|Q5TBG3|Q5TBG9|Q6FG86|Q6IAR3|Q96E83|Q9ULX2	Silent	SNP	ENST00000320246.5	37	c.996C>T	CCDS6854.1																																																																																				0.542	NEK6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054016.1	NM_014397		6	9	0	0	0	1	0	6	9					T	127113178	C	T	127113178	2	4	435	1	0	0	0	0	0	0	0	1	10328	547	19	1		1	NEK6	9	127113178	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	24475	127113178	14100253	4434	25359											
OLFML2A	169611	broad.mit.edu	37	chr9	127549253	127549253	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccctcttgccccccgcaacaGgtgtttggggacctggacca	6	8	11	16	1	1	0	0	0	1	0	1	2	1	2	6	4	2	2	6	4	1	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:127549253G>T	ENST00000373580.3	+	2	90		c.e2-1			NM_182487.2	NP_872293.2	Q68BL7	OLM2A_HUMAN	olfactomedin-like 2A						extracellular matrix organization (GO:0030198)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)			endometrium(5)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	25						CCCCGCAACAGGTGTTTGGGG	0.637																																						ENST00000373580.3																			0				endometrium(5)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	25						c.e2-1		olfactomedin-like 2A							82	89	87					9																	127549253		1981	4162	6143	SO:0001630	splice_region_variant	169611							g.chr9:127549253G>T	AK092255	CCDS6857.2, CCDS65129.1	9q34.11	2008-02-05			ENSG00000185585	ENSG00000185585			27270	protein-coding gene	gene with protein product		615899				12477932	Standard	NM_001282715		Approved	FLJ00237	uc004bov.3	Q68BL7	OTTHUMG00000020663	ENST00000373580.3:c.91-1G>T	9.37:g.127549253G>T								NM_182487.2	NP_872293.2	Q68BL7	OLM2A_HUMAN			2	90	+								Q5JTM5|Q5JTM6|Q6UXW1|Q7Z5V3	Splice_Site	SNP	ENST00000373580.3	37		CCDS6857.2	.	.	.	.	.	.	.	.	.	.	G	21.4	4.139191	0.77775	.	.	ENSG00000185585	ENST00000331715;ENST00000425732;ENST00000373580	.	.	.	5.73	5.73	0.89815	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.4586	0.90729	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	OLFML2A	126589074	1.000000	0.71417	1.000000	0.80357	0.821000	0.46438	7.458000	0.80787	2.699000	0.92147	0.655000	0.94253	.		0.637	OLFML2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054046.2	NM_182487	Intron	4	114	1	0	0.000602214	1	0.000612743	4	114					T	127549253	G	T	127549253	5	4	435	1	0	0	0	0	0	0	1	0	10857	1014	35	5	96	5	OLFML2A	9	127549253	Splice_Site	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	436075	127549253	13664178	4435	25360											
OLFML2A	169611	broad.mit.edu	37	chr9	127549365	127549365	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtagccgagtgcgcagtgggCgggcacgcgtggaggacttc	6	6	19	10	5	0	0	0	0	0	0	1	3	0	2	1	4	2	3	1	4	1	2	rs377592190		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:127549365C>T	ENST00000373580.3	+	2	202	c.202C>T	c.(202-204)Cgg>Tgg	p.R68W		NM_182487.2	NP_872293.2	Q68BL7	OLM2A_HUMAN	olfactomedin-like 2A	68					extracellular matrix organization (GO:0030198)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)			endometrium(5)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	25						GCGCAGTGGGCGGGCACGCGT	0.652													C|||	1	0.000199681	0	0	5008	,	,		17586	0.001		0	False		,,,				2504	0					ENST00000373580.3																			0				endometrium(5)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	25						c.(202-204)Cgg>Tgg		olfactomedin-like 2A		C	TRP/ARG	0,4340		0,0,2170	50	57	55		202	4.8	1	9		55	1,8541		0,1,4270	no	missense	OLFML2A	NM_182487.2	101	0,1,6440	TT,TC,CC		0.0117,0.0,0.0078	probably-damaging	68/653	127549365	1,12881	2170	4271	6441	SO:0001583	missense	169611							g.chr9:127549365C>T	AK092255	CCDS6857.2, CCDS65129.1	9q34.11	2008-02-05			ENSG00000185585	ENSG00000185585			27270	protein-coding gene	gene with protein product		615899				12477932	Standard	NM_001282715		Approved	FLJ00237	uc004bov.3	Q68BL7	OTTHUMG00000020663	ENST00000373580.3:c.202C>T	9.37:g.127549365C>T	ENSP00000362682:p.Arg68Trp						p.R68W	NM_182487.2	NP_872293.2	Q68BL7	OLM2A_HUMAN			2	202	+			68					Q5JTM5|Q5JTM6|Q6UXW1|Q7Z5V3	Missense_Mutation	SNP	ENST00000373580.3	37	c.202C>T	CCDS6857.2	.	.	.	.	.	.	.	.	.	.	C	20.6	4.019386	0.75275	0.0	1.17E-4	ENSG00000185585	ENST00000331715;ENST00000425732;ENST00000373580	T;T	0.46819	0.86;0.86	5.73	4.76	0.60689	.	0.216061	0.46442	D	0.000300	T	0.54886	0.1886	L	0.47716	1.5	0.80722	D	1	D;D	0.76494	0.999;0.997	P;P	0.59221	0.854;0.634	T	0.56226	-0.8014	10	0.72032	D	0.01	.	10.8968	0.47027	0.3449:0.6551:0.0:0.0	.	68;68	Q5JTM7;Q68BL7	.;OLM2A_HUMAN	W	68	ENSP00000336425:R68W;ENSP00000362682:R68W	ENSP00000336425:R68W	R	+	1	2	OLFML2A	126589186	1.000000	0.71417	0.991000	0.47740	0.308000	0.27856	3.464000	0.53057	2.699000	0.92147	0.655000	0.94253	CGG		0.652	OLFML2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054046.2	NM_182487		21	25	0	0	0	1	0	21	25					T	127549365	C	T	127549365	3	4	435	1	0	0	0	0	1	0	0	0	10857	759	27	1	208	1	OLFML2A	9	127549365	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	112	127549365	13664066	4436	25361											
OLFML2A	169611	broad.mit.edu	37	chr9	127561615	127561615	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aggtggtgaaggacagcgtgCgccacctcagtgagcagttg	9	7	16	9	2	1	2	1	2	0	0	1	3	1	3	2	3	3	2	2	3	1	1	rs533587628	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:127561615C>T	ENST00000373580.3	+	4	514	c.514C>T	c.(514-516)Cgc>Tgc	p.R172C	OLFML2A_ENST00000288815.5_5'Flank	NM_182487.2	NP_872293.2	Q68BL7	OLM2A_HUMAN	olfactomedin-like 2A	172					extracellular matrix organization (GO:0030198)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)			endometrium(5)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	25						GGACAGCGTGCGCCACCTCAG	0.597													C|||	2	0.000399361	8e-04	0	5008	,	,		17727	0.001		0	False		,,,				2504	0					ENST00000373580.3																			0				endometrium(5)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	25						c.(514-516)Cgc>Tgc		olfactomedin-like 2A							45	51	49					9																	127561615		2157	4275	6432	SO:0001583	missense	169611							g.chr9:127561615C>T	AK092255	CCDS6857.2, CCDS65129.1	9q34.11	2008-02-05			ENSG00000185585	ENSG00000185585			27270	protein-coding gene	gene with protein product		615899				12477932	Standard	NM_001282715		Approved	FLJ00237	uc004bov.3	Q68BL7	OTTHUMG00000020663	ENST00000373580.3:c.514C>T	9.37:g.127561615C>T	ENSP00000362682:p.Arg172Cys						p.R172C	NM_182487.2	NP_872293.2	Q68BL7	OLM2A_HUMAN			4	514	+			172					Q5JTM5|Q5JTM6|Q6UXW1|Q7Z5V3	Missense_Mutation	SNP	ENST00000373580.3	37	c.514C>T	CCDS6857.2	.	.	.	.	.	.	.	.	.	.	C	17.53	3.413372	0.62511	.	.	ENSG00000185585	ENST00000331715;ENST00000425732;ENST00000373580	T;T	0.47177	0.85;0.85	5.67	3.76	0.43208	.	0.489979	0.22803	N	0.055449	T	0.51075	0.1653	L	0.44542	1.39	0.80722	D	1	D;D	0.67145	0.996;0.993	P;P	0.55785	0.784;0.517	T	0.51395	-0.8711	10	0.62326	D	0.03	.	10.8651	0.46851	0.1204:0.661:0.2186:0.0	.	136;172	Q5JTM7;Q68BL7	.;OLM2A_HUMAN	C	136;136;172	ENSP00000336425:R136C;ENSP00000362682:R172C	ENSP00000336425:R136C	R	+	1	0	OLFML2A	126601436	0.683000	0.27633	1.000000	0.80357	0.691000	0.40173	1.032000	0.30178	2.681000	0.91329	0.655000	0.94253	CGC		0.597	OLFML2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054046.2	NM_182487		16	18	0	0	0	1	0	16	18					T	127561615	C	T	127561615	3	4	435	1	0	0	0	0	1	0	0	0	10857	768	27	1	528	1	OLFML2A	9	127561615	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	12250	127561615	13651816	4437	25362											
OLFML2A	169611	broad.mit.edu	37	chr9	127572213	127572213	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caagtacgacctacggcagcGcttcgtggcctcctgggcgc	6	7	13	15	5	0	0	0	0	0	0	2	1	1	0	3	3	3	3	3	3	3	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:127572213G>A	ENST00000373580.3	+	8	1481	c.1481G>A	c.(1480-1482)cGc>cAc	p.R494H	OLFML2A_ENST00000288815.5_Missense_Mutation_p.R280H	NM_182487.2	NP_872293.2	Q68BL7	OLM2A_HUMAN	olfactomedin-like 2A	494	Olfactomedin-like. {ECO:0000255|PROSITE- ProRule:PRU00446}.				extracellular matrix organization (GO:0030198)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)			endometrium(5)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	25						CTACGGCAGCGCTTCGTGGCC	0.602																																						ENST00000373580.3																			0				endometrium(5)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	25						c.(1480-1482)cGc>cAc		olfactomedin-like 2A							111	85	94					9																	127572213		2203	4300	6503	SO:0001583	missense	169611							g.chr9:127572213G>A	AK092255	CCDS6857.2, CCDS65129.1	9q34.11	2008-02-05			ENSG00000185585	ENSG00000185585			27270	protein-coding gene	gene with protein product		615899				12477932	Standard	NM_001282715		Approved	FLJ00237	uc004bov.3	Q68BL7	OTTHUMG00000020663	ENST00000373580.3:c.1481G>A	9.37:g.127572213G>A	ENSP00000362682:p.Arg494His					OLFML2A_ENST00000288815.5_Missense_Mutation_p.R280H	p.R494H	NM_182487.2	NP_872293.2	Q68BL7	OLM2A_HUMAN			8	1481	+			494			Olfactomedin-like.		Q5JTM5|Q5JTM6|Q6UXW1|Q7Z5V3	Missense_Mutation	SNP	ENST00000373580.3	37	c.1481G>A	CCDS6857.2	.	.	.	.	.	.	.	.	.	.	G	36	5.686248	0.96784	.	.	ENSG00000185585	ENST00000342100;ENST00000373580;ENST00000288815	T;D	0.89617	1.51;-2.54	6.07	6.07	0.98685	Olfactomedin-like (3);	0.000000	0.85682	D	0.000000	D	0.94016	0.8083	M	0.81112	2.525	0.80722	D	1	D;D	0.56035	0.972;0.974	P;P	0.58013	0.755;0.831	D	0.94002	0.7276	10	0.87932	D	0	.	19.6321	0.95713	0.0:0.0:1.0:0.0	.	280;494	Q68BL7-3;Q68BL7	.;OLM2A_HUMAN	H	186;494;280	ENSP00000362682:R494H;ENSP00000288815:R280H	ENSP00000288815:R280H	R	+	2	0	OLFML2A	126612034	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	8.004000	0.88535	2.884000	0.98904	0.655000	0.94253	CGC		0.602	OLFML2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054046.2	NM_182487		9	16	0	0	0	1	0	9	16					A	127572213	G	A	127572213	3	1	435	1	0	0	0	0	1	0	0	0	10857	1087	38	1	1511	1	OLFML2A	9	127572213	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	10598	127572213	13641218	4438	25363											
ARPC5L	81873	broad.mit.edu	37	chr9	127637403	127637403	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aagcccacagaaaatagcagCgcagtgttactccagtggca	14	6	10	11	1	0	1	0	0	0	1	1	1	1	1	2	1	4	4	2	1	5	2	rs145806785		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:127637403C>T	ENST00000353214.2	+	5	1624	c.372C>T	c.(370-372)agC>agT	p.S124S	ARPC5L_ENST00000259477.6_Silent_p.S124S|ARPC5L_ENST00000465124.1_3'UTR			Q9BPX5	ARP5L_HUMAN	actin related protein 2/3 complex, subunit 5-like	124					regulation of actin filament polymerization (GO:0030833)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)				large_intestine(2)|lung(1)	3						AAAATAGCAGCGCAGTGTTAC	0.512																																						ENST00000353214.2																			0				large_intestine(2)|lung(1)	3						c.(370-372)agC>agT		actin related protein 2/3 complex, subunit 5-like		C		1,4405	2.1+/-5.4	0,1,2202	85	86	86		372	-11.5	0.1	9	dbSNP_134	86	0,8600		0,0,4300	no	coding-synonymous	ARPC5L	NM_030978.1		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		124/154	127637403	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	81873				regulation of actin filament polymerization	cytoplasm|cytoskeleton	actin binding	g.chr9:127637403C>T	AF087842	CCDS6859.1	9q34.11	2011-07-06			ENSG00000136950	ENSG00000136950		"Actin related protein 2/3 complex subunits"	23366	protein-coding gene	gene with protein product							Standard	NM_030978		Approved	MGC3038, ARC16-2	uc004bpa.4	Q9BPX5	OTTHUMG00000020660	ENST00000353214.2:c.372C>T	9.37:g.127637403C>T						ARPC5L_ENST00000465124.1_3'UTR|ARPC5L_ENST00000259477.6_Silent_p.S124S	p.S124S			Q9BPX5	ARP5L_HUMAN			5	1624	+			124					Q7Z523	Silent	SNP	ENST00000353214.2	37	c.372C>T	CCDS6859.1																																																																																				0.512	ARPC5L-002	KNOWN	non_canonical_polymorphism|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054041.1	NM_030978		28	43	0	0	0	1	0	28	43					T	127637403	C	T	127637403	2	4	435	1	0	0	0	0	0	0	0	1	975	767	27	1		1	ARPC5L	9	127637403	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	65190	127637403	13576028	4439	25364											
SCAI	286205	broad.mit.edu	37	chr9	127733744	127733744	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tccaaaaaactggagaaatgCctgatctgcaaagaggagaa	18	6	10	7	0	1	4	0	1	1	3	2	6	2	4	2	2	3	1	2	2	6	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:127733744C>T	ENST00000336505.6	-	17	1637	c.1579G>A	c.(1579-1581)Gca>Aca	p.A527T	SCAI_ENST00000373549.4_Missense_Mutation_p.A550T	NM_001144877.2	NP_001138349.1	Q8N9R8	SCAI_HUMAN	suppressor of cancer cell invasion	527					negative regulation of cell migration (GO:0030336)|negative regulation of Rho protein signal transduction (GO:0035024)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	transcription corepressor activity (GO:0003714)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(7)|large_intestine(4)|lung(8)|ovary(2)|pancreas(1)|prostate(5)|stomach(1)|urinary_tract(1)	35						TGGAGAAATGCCTGATCTGCA	0.398																																						ENST00000336505.5																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(7)|large_intestine(4)|lung(8)|ovary(2)|pancreas(1)|prostate(5)|stomach(1)|urinary_tract(1)	35						c.(1579-1581)Gca>Aca		suppressor of cancer cell invasion							78	69	72					9																	127733744		1840	4086	5926	SO:0001583	missense	286205				negative regulation of cell migration|negative regulation of Rho protein signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|integral to membrane|nucleus	protein binding|transcription corepressor activity	g.chr9:127733744C>T	AK093983	CCDS43877.1, CCDS48017.1	9q34.11	2009-11-06	2009-07-09	2009-07-09	ENSG00000173611	ENSG00000173611			26709	protein-coding gene	gene with protein product			"chromosome 9 open reading frame 126"	C9orf126			Standard	NM_173690		Approved	FLJ36664, NET40	uc004bpd.3	Q8N9R8	OTTHUMG00000020667	ENST00000336505.6:c.1579G>A	9.37:g.127733744C>T	ENSP00000336756:p.Ala527Thr					SCAI_ENST00000373549.4_Missense_Mutation_p.A550T	p.A527T	NM_001144877.2	NP_001138349.1	Q8N9R8	SCAI_HUMAN			17	1637	-			527					Q3SXZ1|Q3SXZ2|Q5T163|Q8N1I4	Missense_Mutation	SNP	ENST00000336505.6	37	c.1579G>A	CCDS48017.1	.	.	.	.	.	.	.	.	.	.	C	11.78	1.739469	0.30774	.	.	ENSG00000173611	ENST00000336505;ENST00000373549	T;T	0.43688	0.95;0.94	5.04	5.04	0.67666	.	0.102422	0.64402	D	0.000003	T	0.33440	0.0863	L	0.31845	0.965	0.49213	D	0.999768	B;B	0.29936	0.262;0.221	B;B	0.31495	0.094;0.131	T	0.10291	-1.0636	10	0.32370	T	0.25	-12.2117	13.4021	0.60889	0.1674:0.8326:0.0:0.0	.	527;550	Q8N9R8;Q8N9R8-2	SCAI_HUMAN;.	T	527;550	ENSP00000336756:A527T;ENSP00000362650:A550T	ENSP00000336756:A527T	A	-	1	0	SCAI	126773565	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.135000	0.64777	2.508000	0.84585	0.650000	0.86243	GCA		0.398	SCAI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054055.3	NM_173690		19	28	0	0	0	1	0	19	28					T	127733744	C	T	127733744	3	4	435	1	0	0	0	0	1	0	0	0	13869	739	26	3	249	3	SCAI	9	127733744	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	96341	127733744	13479687	4440	25365											
PPP6C	5537	broad.mit.edu	37	chr9	127916001	127916001	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gataaaccaccatggacacaCaaaatctgctcatctattaa	17	9	4	11	0	3	0	1	0	2	0	3	2	3	1	2	1	2	1	2	1	6	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:127916001C>T	ENST00000373547.4	-	6	579	c.480G>A	c.(478-480)ttG>ttA	p.L160L	PPP6C_ENST00000373546.3_Silent_p.L13L|PPP6C_ENST00000451402.1_Silent_p.L197L|PPP6C_ENST00000415905.1_Silent_p.L138L	NM_002721.4	NP_002712.1	O00743	PPP6_HUMAN	protein phosphatase 6, catalytic subunit	160					G1/S transition of mitotic cell cycle (GO:0000082)|protein dephosphorylation (GO:0006470)	cytosol (GO:0005829)	metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)			NS(2)|endometrium(1)|large_intestine(4)|liver(1)|lung(2)|ovary(1)|skin(3)	14						CATGGACACACAAAATCTGCT	0.353																																						ENST00000451402.1																			0				NS(2)|endometrium(1)|large_intestine(4)|liver(1)|lung(2)|ovary(1)|skin(3)	14						c.(589-591)ttG>ttA		protein phosphatase 6, catalytic subunit							58	56	57					9																	127916001		2203	4300	6503	SO:0001819	synonymous_variant	5537				G1/S transition of mitotic cell cycle|protein dephosphorylation	cytosol	metal ion binding|protein binding|protein serine/threonine phosphatase activity	g.chr9:127916001C>T	AF035158	CCDS6861.1, CCDS48018.1, CCDS48019.1	9q33.3	2010-03-17			ENSG00000119414	ENSG00000119414		"Serine/threonine phosphatases / Protein phosphatase, catalytic subunits"	9323	protein-coding gene	gene with protein product		612725				9143513	Standard	NM_002721		Approved	PP6	uc004bpg.4	O00743	OTTHUMG00000020671	ENST00000373547.4:c.480G>A	9.37:g.127916001C>T						PPP6C_ENST00000373547.4_Silent_p.L160L|PPP6C_ENST00000415905.1_Silent_p.L138L|PPP6C_ENST00000373546.3_Silent_p.L13L	p.L197L	NM_001123355.1	NP_001116827.1	O00743	PPP6_HUMAN			7	811	-			160					B2R5V6|B7Z2W9|B7Z5K9|Q5U0A2|Q9UIC9	Silent	SNP	ENST00000373547.4	37	c.591G>A	CCDS6861.1																																																																																				0.353	PPP6C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054060.1	NM_016294		17	35	0	0	0	1	0	17	35					T	127916001	C	T	127916001	2	4	435	1	0	0	0	0	0	0	0	1	12407	477	17	3		3	PPP6C	9	127916001	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	182257	127916001	13297430	4441	25366											
GAPVD1	26130	broad.mit.edu	37	chr9	128092363	128092363	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cactggttatacaggtgctgCagcagagaacatgttaggca	12	9	12	8	0	0	1	0	0	0	1	0	2	0	1	0	3	5	6	0	3	4	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:128092363C>T	ENST00000495955.1	+	13	2329	c.2039C>T	c.(2038-2040)gCa>gTa	p.A680V	GAPVD1_ENST00000394105.2_Missense_Mutation_p.A680V|GAPVD1_ENST00000297933.6_Missense_Mutation_p.A680V|GAPVD1_ENST00000394104.2_Missense_Mutation_p.A680V|GAPVD1_ENST00000312123.9_Missense_Mutation_p.A659V|GAPVD1_ENST00000470056.1_Missense_Mutation_p.A680V|GAPVD1_ENST00000394083.2_Missense_Mutation_p.A659V|GAPVD1_ENST00000265956.4_Missense_Mutation_p.A680V			Q14C86	GAPD1_HUMAN	GTPase activating protein and VPS9 domains 1	680					endocytosis (GO:0006897)|positive regulation of GTPase activity (GO:0043547)|regulation of protein transport (GO:0051223)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)	cytosol (GO:0005829)|endosome (GO:0005768)|membrane (GO:0016020)	GTPase activating protein binding (GO:0032794)|GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)			central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(10)|lung(11)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						ACAGGTGCTGCAGCAGAGAAC	0.473																																						ENST00000470056.1																			0				central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(10)|lung(11)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						c.(2038-2040)gCa>gTa		GTPase activating protein and VPS9 domains 1							190	179	182					9																	128092363		2203	4300	6503	SO:0001583	missense	26130				endocytosis|regulation of protein transport|regulation of small GTPase mediated signal transduction|signal transduction	cytosol|endosome|membrane	GTPase activating protein binding|GTPase activator activity|guanyl-nucleotide exchange factor activity	g.chr9:128092363C>T		CCDS65130.1, CCDS65131.1, CCDS65132.1	9q34.11	2008-02-05			ENSG00000165219	ENSG00000165219			23375	protein-coding gene	gene with protein product		611714					Standard	XM_005251901		Approved	DKFZP434C212, KIAA1521	uc004bpr.3	Q14C86	OTTHUMG00000020678	ENST00000495955.1:c.2039C>T	9.37:g.128092363C>T	ENSP00000419063:p.Ala680Val					GAPVD1_ENST00000312123.9_Missense_Mutation_p.A659V|GAPVD1_ENST00000297933.6_Missense_Mutation_p.A680V|GAPVD1_ENST00000394104.2_Missense_Mutation_p.A680V|GAPVD1_ENST00000495955.1_Missense_Mutation_p.A680V|GAPVD1_ENST00000265956.4_Missense_Mutation_p.A680V|GAPVD1_ENST00000394105.2_Missense_Mutation_p.A680V|GAPVD1_ENST00000394083.2_Missense_Mutation_p.A659V	p.A680V			Q14C86	GAPD1_HUMAN			11	2199	+			680					A8MYK3|B0QZ62|B0QZ63|B0QZ64|Q14C76|Q2Q1W1|Q8ND92|Q8WU86|Q96CZ4|Q9NXQ1|Q9P207|Q9Y4N0	Missense_Mutation	SNP	ENST00000495955.1	37	c.2039C>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	31|31	5.088256|5.088256	0.94100|0.94100	.|.	.|.	ENSG00000165219|ENSG00000165219	ENST00000470056;ENST00000394105;ENST00000394104;ENST00000265956;ENST00000394083;ENST00000495955;ENST00000467750;ENST00000297933;ENST00000312123|ENST00000431329	T;T;T;T;T;T;T;T;T|.	0.15017|.	2.46;2.46;2.46;2.46;2.46;2.46;2.46;2.46;2.46|.	5.06|5.06	5.06|5.06	0.68205|0.68205	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.45736|.	0.1357|.	N|N	0.08118|0.08118	0|0	0.80722|0.80722	D|D	1|1	D;D;D;D;D;D|.	0.71674|.	0.996;0.993;0.996;0.996;0.996;0.998|.	D;D;D;D;D;D|.	0.76071|.	0.98;0.956;0.971;0.971;0.971;0.987|.	T|.	0.41645|.	-0.9497|.	10|.	0.31617|.	T|.	0.26|.	.|.	17.7858|17.7858	0.88538|0.88538	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	680;680;680;659;680;680|.	Q14C86-5;Q14C86;Q14C86-3;Q14C86-4;Q14C86-2;Q14C86-6|.	.;GAPD1_HUMAN;.;.;.;.|.	V|X	680;680;680;680;659;680;680;680;659|543	ENSP00000419767:A680V;ENSP00000377665:A680V;ENSP00000377664:A680V;ENSP00000265956:A680V;ENSP00000377645:A659V;ENSP00000419063:A680V;ENSP00000418747:A680V;ENSP00000297933:A680V;ENSP00000309582:A659V|.	ENSP00000265956:A680V|.	A|Q	+|+	2|1	0|0	GAPVD1|GAPVD1	127132184|127132184	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	7.445000|7.445000	0.80570|0.80570	2.516000|2.516000	0.84829|0.84829	0.650000|0.650000	0.86243|0.86243	GCA|CAG		0.473	GAPVD1-014	KNOWN	alternative_5_UTR|basic	protein_coding	protein_coding	OTTHUMT00000355644.1			5	107	0	0	0	1	0	5	107					T	128092363	C	T	128092363	3	4	435	1	0	0	0	0	1	0	0	0	6239	710	25	3	2077	3	GAPVD1	9	128092363	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	176362	128092363	13121068	4442	25367											
MAPKAP1	79109	broad.mit.edu	37	chr9	128230310	128230310	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ggtcggaatcgattgagatgGgtttctgcttaatccaaaac	11	12	11	7	2	1	1	0	1	1	1	4	4	2	2	1	3	2	2	1	3	4	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:128230310G>A	ENST00000373498.1	-	9	1354	c.1286C>T	c.(1285-1287)cCc>cTc	p.P429L	MAPKAP1_ENST00000373503.3_Missense_Mutation_p.P237L|MAPKAP1_ENST00000350766.3_Missense_Mutation_p.P393L|MAPKAP1_ENST00000265960.3_Missense_Mutation_p.P429L|MAPKAP1_ENST00000373497.5_Missense_Mutation_p.P142L|MAPKAP1_ENST00000373511.2_Missense_Mutation_p.P382L|MAPKAP1_ENST00000483937.1_5'UTR|MAPKAP1_ENST00000394063.1_Missense_Mutation_p.P237L			Q9BPZ7	SIN1_HUMAN	mitogen-activated protein kinase associated protein 1	429					epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|negative regulation of Ras protein signal transduction (GO:0046580)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|substantia nigra development (GO:0021762)|T cell costimulation (GO:0031295)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	phosphatidic acid binding (GO:0070300)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein kinase binding (GO:0019901)|Ras GTPase binding (GO:0017016)			endometrium(2)|kidney(1)|large_intestine(2)|lung(15)|ovary(3)	23						GATTGAGATGGGTTTCTGCTT	0.458																																						ENST00000265960.3																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(15)|ovary(3)	23						c.(1285-1287)cCc>cTc		mitogen-activated protein kinase associated protein 1							212	201	205					9																	128230310		2203	4300	6503	SO:0001583	missense	79109				nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|response to stress|T cell costimulation	cytoplasmic membrane-bounded vesicle|cytosol|nucleus|plasma membrane	Ras GTPase binding	g.chr9:128230310G>A	M37191	CCDS6864.1, CCDS35139.1, CCDS35140.1, CCDS35141.1, CCDS48020.1	9q34.11	2008-02-05			ENSG00000119487	ENSG00000119487			18752	protein-coding gene	gene with protein product	"stress-activated protein kinase-interacting 1"	610558				15363842	Standard	NM_001006620		Approved	MGC2745, SIN1, MIP1	uc004bpv.3	Q9BPZ7	OTTHUMG00000020683	ENST00000373498.1:c.1286C>T	9.37:g.128230310G>A	ENSP00000362597:p.Pro429Leu					MAPKAP1_ENST00000373498.1_Missense_Mutation_p.P429L|MAPKAP1_ENST00000373511.2_Missense_Mutation_p.P382L|MAPKAP1_ENST00000483937.1_5'UTR|MAPKAP1_ENST00000373503.3_Missense_Mutation_p.P237L|MAPKAP1_ENST00000373497.5_Missense_Mutation_p.P142L|MAPKAP1_ENST00000350766.3_Missense_Mutation_p.P393L|MAPKAP1_ENST00000394063.1_Missense_Mutation_p.P237L	p.P429L	NM_001006617.1	NP_001006618.1	Q9BPZ7	SIN1_HUMAN			10	1618	-			429					A8K1Z5|B1AMA4|B7Z309|Q00426|Q5JSV5|Q5JSV6|Q5JSV9|Q658R0|Q699U1|Q699U2|Q699U3|Q699U4|Q6GVJ0|Q6GVJ1|Q6GVJ2	Missense_Mutation	SNP	ENST00000373498.1	37	c.1286C>T	CCDS35140.1	.	.	.	.	.	.	.	.	.	.	G	26.9	4.785850	0.90282	.	.	ENSG00000119487	ENST00000373511;ENST00000350766;ENST00000373503;ENST00000373498;ENST00000265960;ENST00000394063;ENST00000373497;ENST00000420643	.	.	.	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	T	0.79155	0.4398	M	0.65975	2.015	0.80722	D	1	P;D;D;D	0.76494	0.711;0.998;0.999;0.984	P;D;D;P	0.71414	0.451;0.944;0.973;0.906	T	0.78018	-0.2368	9	0.59425	D	0.04	-8.5772	20.6593	0.99626	0.0:0.0:1.0:0.0	.	142;382;393;429	B7Z5E5;Q9BPZ7-3;Q9BPZ7-2;Q9BPZ7	.;.;.;SIN1_HUMAN	L	382;393;237;429;429;237;142;201	.	ENSP00000265960:P429L	P	-	2	0	MAPKAP1	127270131	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.869000	0.99810	2.885000	0.99019	0.655000	0.94253	CCC		0.458	MAPKAP1-009	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054092.1			26	39	0	0	0	1	0	26	39					A	128230310	G	A	128230310	3	1	435	1	0	0	0	0	1	0	0	0	9288	1232	43	3	294	3	MAPKAP1	9	128230310	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	137947	128230310	12983121	4443	25368											
FAM125B	89853	broad.mit.edu	37	chr9	129148856	129148856	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaagagtcatctggggaacGtgttagtagatatgaagctc	12	10	12	7	1	2	3	1	1	1	2	3	4	2	4	1	2	2	3	1	2	6	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:129148856G>A	ENST00000361171.3	+	4	409	c.328G>A	c.(328-330)Gtg>Atg	p.V110M	MVB12B_ENST00000545391.1_Missense_Mutation_p.V110M|MVB12B_ENST00000436593.3_Missense_Mutation_p.V95M|MVB12B_ENST00000535766.1_Missense_Mutation_p.V103M	NM_033446.2	NP_258257.1	Q9H7P6	MB12B_HUMAN	multivesicular body subunit 12B	110	MABP. {ECO:0000255|PROSITE- ProRule:PRU00831}.				protein transport (GO:0015031)|regulation of epidermal growth factor receptor signaling pathway (GO:0042058)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)	cytosol (GO:0005829)|early endosome (GO:0005769)|ESCRT I complex (GO:0000813)|extracellular vesicular exosome (GO:0070062)|late endosome (GO:0005770)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	lipid binding (GO:0008289)										TCTGGGGAACGTGTTAGTAGA	0.443																																						ENST00000361171.3																			0											c.(328-330)Gtg>Atg		multivesicular body subunit 12B							114	90	98					9																	129148856		2203	4300	6503	SO:0001583	missense	89853							g.chr9:129148856G>A	AK000001	CCDS35142.1	9q34.12	2012-12-03	2012-12-03	2012-12-03	ENSG00000196814	ENSG00000196814			23368	protein-coding gene	gene with protein product			"chromosome 9 open reading frame 28", "family with sequence similarity 125, member B"	C9orf28, FAM125B		18005716, 20654576, 22232651	Standard	NM_033446		Approved	FLJ00001	uc004bqh.2	Q9H7P6	OTTHUMG00000020687	ENST00000361171.3:c.328G>A	9.37:g.129148856G>A	ENSP00000354772:p.Val110Met					MVB12B_ENST00000535766.1_Missense_Mutation_p.V103M|MVB12B_ENST00000436593.3_Missense_Mutation_p.V95M|MVB12B_ENST00000545391.1_Missense_Mutation_p.V110M	p.V110M	NM_033446.2	NP_258257.1					4	409	+								Q8N6S7	Missense_Mutation	SNP	ENST00000361171.3	37	c.328G>A	CCDS35142.1	.	.	.	.	.	.	.	.	.	.	G	24.6	4.549116	0.86127	.	.	ENSG00000196814	ENST00000361171;ENST00000545391;ENST00000402437;ENST00000436593;ENST00000535766	T;T;T;T;T	0.62788	-0.0;-0.0;-0.0;-0.0;-0.0	5.29	5.29	0.74685	MABP domain (1);	0.000000	0.85682	D	0.000000	T	0.82217	0.4989	M	0.85945	2.785	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;1.0	D	0.85199	0.1014	10	0.87932	D	0	24.7789	18.9439	0.92613	0.0:0.0:1.0:0.0	.	103;95;110	B7Z4X0;B7Z1P9;Q9H7P6	.;.;F125B_HUMAN	M	110;110;95;95;103	ENSP00000354772:V110M;ENSP00000441988:V110M;ENSP00000384751:V95M;ENSP00000401379:V95M;ENSP00000442846:V103M	ENSP00000354772:V110M	V	+	1	0	FAM125B	128188677	1.000000	0.71417	0.998000	0.56505	0.989000	0.77384	7.544000	0.82117	2.474000	0.83562	0.650000	0.86243	GTG		0.443	MVB12B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054110.1	XM_088525		8	20	0	0	0	1	0	8	20					A	129148856	G	A	129148856	3	1	435	1	0	0	0	0	1	0	0	0	5428	1145	40	1	342	1	FAM125B	9	129148856	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	918546	129148856	12064575	4444	25369											
LMX1B	4010	broad.mit.edu	37	chr9	129455510	129455510	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggatgacgggaaggacccgCggaggcccaagcgaccccgg	9	1	18	13	5	0	1	0	1	0	0	0	6	0	5	4	6	1	0	4	6	2	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:129455510C>T	ENST00000373474.4	+	4	656	c.649C>T	c.(649-651)Cgg>Tgg	p.R217W	LMX1B_ENST00000526117.1_Missense_Mutation_p.R217W|LMX1B_ENST00000425646.2_Missense_Mutation_p.R194W|LMX1B_ENST00000561065.1_Missense_Mutation_p.R194W|LMX1B_ENST00000355497.5_Missense_Mutation_p.R217W			O60663	LMX1B_HUMAN	LIM homeobox transcription factor 1, beta	217					cell proliferation (GO:0008283)|central nervous system neuron development (GO:0021954)|cerebellum morphogenesis (GO:0021587)|collagen fibril organization (GO:0030199)|dopaminergic neuron differentiation (GO:0071542)|dorsal/ventral pattern formation (GO:0009953)|in utero embryonic development (GO:0001701)|limb morphogenesis (GO:0035108)|midbrain development (GO:0030901)|multicellular organismal development (GO:0007275)|neuron differentiation (GO:0030182)|neuron migration (GO:0001764)|organ growth (GO:0035265)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|trabecular meshwork development (GO:0002930)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	15						GAAGGACCCGCGGAGGCCCAA	0.652									Nail-Patella Syndrome																												Pancreas(110;1796 2278 18357 20466)	ENST00000355497.5																			0				endometrium(1)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	15						c.(649-651)Cgg>Tgg		LIM homeobox transcription factor 1, beta							37	39	38					9																	129455510		2202	4300	6502	SO:0001583	missense	4010	Nail-Patella Syndrome	Familial Cancer Database	Osteo-Onychodysplasia, Turner-Kieser syndrome, Fong disease	dorsal/ventral pattern formation|in utero embryonic development	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr9:129455510C>T	U77457	CCDS6866.1, CCDS6866.2, CCDS55342.1, CCDS55343.1	9q33.3	2011-06-20			ENSG00000136944	ENSG00000136944		"Homeoboxes / LIM class"	6654	protein-coding gene	gene with protein product		602575		NPS1		9441763, 9590287	Standard	NM_002316		Approved		uc004bqj.3	O60663	OTTHUMG00000020692	ENST00000373474.4:c.649C>T	9.37:g.129455510C>T	ENSP00000362573:p.Arg217Trp					LMX1B_ENST00000425646.2_Missense_Mutation_p.R194W|LMX1B_ENST00000526117.1_Missense_Mutation_p.R217W|LMX1B_ENST00000373474.4_Missense_Mutation_p.R217W|LMX1B_ENST00000561065.1_Missense_Mutation_p.R194W	p.R217W	NM_001174146.1	NP_001167617.1	O60663	LMX1B_HUMAN			4	656	+			194					F8W7W6|O75463|Q5JU95|Q6ISC9	Missense_Mutation	SNP	ENST00000373474.4	37	c.649C>T	CCDS55342.1	.	.	.	.	.	.	.	.	.	.	C	17.01	3.279243	0.59758	.	.	ENSG00000136944	ENST00000526117;ENST00000373474;ENST00000355497;ENST00000425646	T;T;D;T	0.96011	-1.12;-1.12;-3.88;-1.12	4.97	-1.69	0.08186	Homeodomain-related (1);Homeobox (1);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	D	0.95971	0.8688	L	0.51422	1.61	0.53688	D	0.999971	D;D;D	0.89917	0.997;0.998;1.0	P;P;D	0.68483	0.881;0.849;0.958	D	0.94502	0.7710	10	0.87932	D	0	.	15.8126	0.78576	0.6922:0.3078:0.0:0.0	.	194;194;217	B7ZLH2;O60663;F8VYP0	.;LMX1B_HUMAN;.	W	217;217;217;194	ENSP00000436930:R217W;ENSP00000362573:R217W;ENSP00000347684:R217W;ENSP00000390923:R194W	ENSP00000347684:R217W	R	+	1	2	LMX1B	128495331	0.003000	0.15002	0.077000	0.20336	0.916000	0.54674	0.098000	0.15189	-0.133000	0.11537	-1.797000	0.00622	CGG		0.652	LMX1B-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054123.2			4	4	0	0	0	1	0	4	4					T	129455510	C	T	129455510	3	4	435	1	0	0	0	0	1	0	0	0	8862	759	27	1	663	1	LMX1B	9	129455510	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	306654	129455510	11757921	4445	25370											
LMX1B	4010	broad.mit.edu	37	chr9	129458221	129458221	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cagagcccctacggcagcagCgaccccttccagcagggcct	8	4	11	18	2	0	1	0	0	0	1	1	2	1	1	6	2	5	3	6	2	1	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:129458221C>T	ENST00000373474.4	+	7	997	c.990C>T	c.(988-990)agC>agT	p.S330S	LMX1B_ENST00000526117.1_Silent_p.S330S|LMX1B_ENST00000425646.2_Silent_p.S307S|LMX1B_ENST00000561065.1_Silent_p.S318S|LMX1B_ENST00000355497.5_Silent_p.S341S			O60663	LMX1B_HUMAN	LIM homeobox transcription factor 1, beta	330					cell proliferation (GO:0008283)|central nervous system neuron development (GO:0021954)|cerebellum morphogenesis (GO:0021587)|collagen fibril organization (GO:0030199)|dopaminergic neuron differentiation (GO:0071542)|dorsal/ventral pattern formation (GO:0009953)|in utero embryonic development (GO:0001701)|limb morphogenesis (GO:0035108)|midbrain development (GO:0030901)|multicellular organismal development (GO:0007275)|neuron differentiation (GO:0030182)|neuron migration (GO:0001764)|organ growth (GO:0035265)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|trabecular meshwork development (GO:0002930)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	15						ACGGCAGCAGCGACCCCTTCC	0.672									Nail-Patella Syndrome																												Pancreas(110;1796 2278 18357 20466)	ENST00000355497.5																			0				endometrium(1)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	15						c.(1021-1023)agC>agT		LIM homeobox transcription factor 1, beta							60	49	53					9																	129458221		2201	4299	6500	SO:0001819	synonymous_variant	4010	Nail-Patella Syndrome	Familial Cancer Database	Osteo-Onychodysplasia, Turner-Kieser syndrome, Fong disease	dorsal/ventral pattern formation|in utero embryonic development	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr9:129458221C>T	U77457	CCDS6866.1, CCDS6866.2, CCDS55342.1, CCDS55343.1	9q33.3	2011-06-20			ENSG00000136944	ENSG00000136944		"Homeoboxes / LIM class"	6654	protein-coding gene	gene with protein product		602575		NPS1		9441763, 9590287	Standard	NM_002316		Approved		uc004bqj.3	O60663	OTTHUMG00000020692	ENST00000373474.4:c.990C>T	9.37:g.129458221C>T						LMX1B_ENST00000425646.2_Silent_p.S307S|LMX1B_ENST00000526117.1_Silent_p.S330S|LMX1B_ENST00000373474.4_Silent_p.S330S|LMX1B_ENST00000561065.1_Silent_p.S318S	p.S341S	NM_001174146.1	NP_001167617.1	O60663	LMX1B_HUMAN			7	1030	+			307					F8W7W6|O75463|Q5JU95|Q6ISC9	Silent	SNP	ENST00000373474.4	37	c.1023C>T	CCDS55342.1																																																																																				0.672	LMX1B-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054123.2			3	13	0	0	0	1	0	3	13					T	129458221	C	T	129458221	2	4	435	1	0	0	0	0	0	0	0	1	8862	767	27	1		1	LMX1B	9	129458221	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	2711	129458221	11755210	4446	25371											
ZBTB43	23099	broad.mit.edu	37	chr9	129595902	129595902	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gattctcagccactgacaagCtgtatccttgtcagtgtggg	8	12	11	10	0	2	1	2	1	1	0	4	2	3	1	2	1	2	2	2	1	2	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:129595902C>T	ENST00000373464.4	+	3	1378	c.1114C>T	c.(1114-1116)Ctg>Ttg	p.L372L	ZBTB43_ENST00000373457.1_Silent_p.L372L|ZBTB43_ENST00000449886.1_Silent_p.L372L	NM_014007.3	NP_054726.1	O43298	ZBT43_HUMAN	zinc finger and BTB domain containing 43	372					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14						CACTGACAAGCTGTATCCTTG	0.502																																						ENST00000373464.4																			0				NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14						c.(1114-1116)Ctg>Ttg		zinc finger and BTB domain containing 43							73	72	73					9																	129595902		2203	4300	6503	SO:0001819	synonymous_variant	23099				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:129595902C>T	AF049907	CCDS6867.1	9q33.3	2013-01-09	2006-04-12	2006-04-12	ENSG00000169155	ENSG00000169155		"-", "BTB/POZ domain containing", "Zinc fingers, C2H2-type"	17908	protein-coding gene	gene with protein product			"zinc finger protein 297B"	ZNF297B			Standard	NM_014007		Approved	KIAA0414, ZNF-X, FLJ22470, ZBTB22B	uc010mxf.3	O43298	OTTHUMG00000020693	ENST00000373464.4:c.1114C>T	9.37:g.129595902C>T						ZBTB43_ENST00000373457.1_Silent_p.L372L|ZBTB43_ENST00000449886.1_Silent_p.L372L	p.L372L	NM_014007.3	NP_054726.1	O43298	ZBT43_HUMAN			3	1378	+			372					Q5JU96	Silent	SNP	ENST00000373464.4	37	c.1114C>T	CCDS6867.1																																																																																				0.502	ZBTB43-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054124.1	NM_001135776		19	28	0	0	0	1	0	19	28					T	129595902	C	T	129595902	2	4	435	1	0	0	0	0	0	0	0	1	17541	796	28	3		3	ZBTB43	9	129595902	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	137681	129595902	11617529	4447	25372											
ANGPTL2	23452	broad.mit.edu	37	chr9	129870557	129870557	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagctgggagagctccaacgCgttgtcccgcttgcggatga	7	8	14	12	4	0	2	0	1	0	1	2	4	2	3	2	2	4	4	2	2	1	2	rs138716830		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:129870557C>T	ENST00000373425.3	-	2	1071	c.454G>A	c.(454-456)Gcg>Acg	p.A152T	RALGPS1_ENST00000424082.2_Intron|ANGPTL2_ENST00000373417.1_Intron|RALGPS1_ENST00000259351.5_Intron|ANGPTL2_ENST00000491991.1_5'Flank|RALGPS1_ENST00000394022.3_Intron|RALGPS1_ENST00000373434.1_Intron|RALGPS1_ENST00000373436.1_Intron	NM_012098.2	NP_036230.1	Q9UKU9	ANGL2_HUMAN	angiopoietin-like 2	152					multicellular organismal development (GO:0007275)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	receptor binding (GO:0005102)			breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)|urinary_tract(1)	18						AGCTCCAACGCGTTGTCCCGC	0.597																																						ENST00000373425.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)|urinary_tract(1)	18						c.(454-456)Gcg>Acg		angiopoietin-like 2		C	,,,THR/ALA,	1,4405	2.1+/-5.4	0,1,2202	65	57	60		,,,454,	5.2	0.9	9	dbSNP_134	60	0,8600		0,0,4300	no	intron,intron,intron,missense,intron	RALGPS1,ANGPTL2	NM_001190728.1,NM_001190729.1,NM_001190730.1,NM_012098.2,NM_014636.2	,,,58,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,,,possibly-damaging,	,,,152/494,	129870557	1,13005	2203	4300	6503	SO:0001583	missense	23452				multicellular organismal development|signal transduction	extracellular space	receptor binding	g.chr9:129870557C>T	AF125175	CCDS6868.1	9q34	2013-02-06			ENSG00000136859	ENSG00000136859		"Fibrinogen C domain containing"	490	protein-coding gene	gene with protein product		605001				10473614	Standard	NM_012098		Approved	ARP2, HARP	uc004bqr.1	Q9UKU9	OTTHUMG00000020695	ENST00000373425.3:c.454G>A	9.37:g.129870557C>T	ENSP00000362524:p.Ala152Thr					RALGPS1_ENST00000373436.1_Intron|RALGPS1_ENST00000394022.3_Intron|ANGPTL2_ENST00000373417.1_Intron|RALGPS1_ENST00000424082.2_Intron|RALGPS1_ENST00000373434.1_Intron|RALGPS1_ENST00000259351.5_Intron	p.A152T	NM_012098.2	NP_036230.1	Q9UKU9	ANGL2_HUMAN			2	1071	-			152					Q5JT58|Q8NCH7	Missense_Mutation	SNP	ENST00000373425.3	37	c.454G>A	CCDS6868.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.990507	0.74589	2.27E-4	0.0	ENSG00000136859	ENST00000373425	T	0.38887	1.11	5.23	5.23	0.72850	.	0.000000	0.85682	D	0.000000	T	0.46698	0.1406	M	0.64997	1.995	0.80722	D	1	D	0.54207	0.965	B	0.42916	0.402	T	0.55166	-0.8183	10	0.66056	D	0.02	.	18.7884	0.91964	0.0:1.0:0.0:0.0	.	152	Q9UKU9	ANGL2_HUMAN	T	152	ENSP00000362524:A152T	ENSP00000362524:A152T	A	-	1	0	ANGPTL2	128910378	1.000000	0.71417	0.890000	0.34922	0.736000	0.42039	4.733000	0.62036	2.447000	0.82792	0.655000	0.94253	GCG		0.597	ANGPTL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054129.1	NM_012098		19	41	0	0	0	1	0	19	41					T	129870557	C	T	129870557	3	4	435	1	0	0	0	0	1	0	0	0	614	768	27	1	1043	1	ANGPTL2	9	129870557	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	274655	129870557	11342874	4448	25373											
GARNL3	84253	broad.mit.edu	37	chr9	130111298	130111298	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggtttccactgatgctggCgtcttgctagtggatggtta	5	15	13	8	1	1	1	0	1	1	0	2	2	2	2	1	4	2	4	1	4	2	4	rs559232060		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:130111298C>T	ENST00000373387.4	+	17	1879	c.1527C>T	c.(1525-1527)ggC>ggT	p.G509G	GARNL3_ENST00000314904.5_Silent_p.G509G|GARNL3_ENST00000435213.2_Silent_p.G487G	NM_032293.4	NP_115669.3	Q5VVW2	GARL3_HUMAN	GTPase activating Rap/RanGAP domain-like 3	509	CNH. {ECO:0000255|PROSITE- ProRule:PRU00795}.				regulation of small GTPase mediated signal transduction (GO:0051056)		GTPase activator activity (GO:0005096)|small GTPase regulator activity (GO:0005083)			NS(1)|central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(24)|ovary(1)|skin(1)|urinary_tract(2)	41						CTGATGCTGGCGTCTTGCTAG	0.507													C|||	1	0.000199681	0	0	5008	,	,		19021	0		0	False		,,,				2504	0.001					ENST00000373387.4																			0				NS(1)|central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(24)|ovary(1)|skin(1)|urinary_tract(2)	41						c.(1525-1527)ggC>ggT		GTPase activating Rap/RanGAP domain-like 3							173	149	157					9																	130111298		2203	4300	6503	SO:0001819	synonymous_variant	84253				regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity|small GTPase regulator activity	g.chr9:130111298C>T	BC034983	CCDS6869.2, CCDS69663.1	9q34.13	2009-09-14	2004-08-09		ENSG00000136895	ENSG00000136895			25425	protein-coding gene	gene with protein product			"GTPase activating RANGAP domain-like 3"			11230166	Standard	NM_032293		Approved	DKFZp761J1523, bA356B19.1	uc011mae.2	Q5VVW2	OTTHUMG00000020700	ENST00000373387.4:c.1527C>T	9.37:g.130111298C>T						GARNL3_ENST00000435213.2_Silent_p.G487G|GARNL3_ENST00000314904.5_Silent_p.G509G	p.G509G	NM_032293.4	NP_115669.3	Q5VVW2	GARL3_HUMAN			17	1879	+			509			CNH.		B4DEP7|B7Z3Q6|Q8IYU1|Q8N951|Q8ND89|Q9BQH6	Silent	SNP	ENST00000373387.4	37	c.1527C>T	CCDS6869.2																																																																																				0.507	GARNL3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054151.3	NM_032293		8	28	0	0	0	1	0	8	28					T	130111298	C	T	130111298	2	4	435	1	0	0	0	0	0	0	0	1	6241	755	27	1		1	GARNL3	9	130111298	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	240741	130111298	11102133	4449	25374											
SLC2A8	29988	broad.mit.edu	37	chr9	130167748	130167748	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggctcctcatgtcagagatCttccctctgcatgtcaaggg	7	12	10	12	0	5	1	3	0	2	1	7	2	7	1	2	2	1	2	2	2	1	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:130167748C>A	ENST00000373371.3	+	9	1289	c.1200C>A	c.(1198-1200)atC>atA	p.I400I	SLC2A8_ENST00000373352.1_Silent_p.I137I|SLC2A8_ENST00000373360.3_Intron	NM_001271712.1|NM_014580.3	NP_001258641.1|NP_055395.2	Q9NY64	GTR8_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 8	400					carbohydrate metabolic process (GO:0005975)|glucose transport (GO:0015758)|insulin receptor signaling pathway (GO:0008286)|male meiosis I (GO:0007141)|response to hypoxia (GO:0001666)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	glucose binding (GO:0005536)|glucose transmembrane transporter activity (GO:0005355)			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)	11						TGTCAGAGATCTTCCCTCTGC	0.622																																						ENST00000373371.3																			0				cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)	11						c.(1198-1200)atC>atA		solute carrier family 2 (facilitated glucose transporter), member 8							97	80	86					9																	130167748		2203	4299	6502	SO:0001819	synonymous_variant	29988					cytoplasmic vesicle membrane|integral to plasma membrane	D-glucose transmembrane transporter activity	g.chr9:130167748C>A	AJ245937	CCDS6870.1, CCDS65138.1, CCDS75903.1	9q33.3	2013-05-22	2008-09-02		ENSG00000136856	ENSG00000136856		"Solute carriers"	13812	protein-coding gene	gene with protein product		605245	"solute carrier family 2 (facilitated glucose transporter) member 8"			10671487, 10821868	Standard	NM_014580		Approved	GLUTX1, GLUT8	uc004bqu.4	Q9NY64	OTTHUMG00000020702	ENST00000373371.3:c.1200C>A	9.37:g.130167748C>A						SLC2A8_ENST00000373360.3_Intron|SLC2A8_ENST00000373352.1_Silent_p.I137I	p.I400I	NM_001271712.1|NM_014580.3	NP_001258641.1|NP_055395.2	Q9NY64	GTR8_HUMAN			9	1289	+			400					Q8WUZ9|Q9NSC4	Silent	SNP	ENST00000373371.3	37	c.1200C>A	CCDS6870.1																																																																																				0.622	SLC2A8-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054177.1	NM_014580		21	22	1	0	1.10513e-12	1	1.19686e-12	21	22					A	130167748	C	A	130167748	2	1	435	1	0	0	0	0	0	0	0	1	14551	903	32	5		5	SLC2A8	9	130167748	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	56450	130167748	11045683	4450	25375											
FAM129B	64855	broad.mit.edu	37	chr9	130269199	130269199	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tggctgctggggctggacacCtgctctccagtctcctggtc	3	11	13	14	0	2	0	0	0	2	0	5	1	2	1	3	5	2	4	3	5	0	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:130269199C>A	ENST00000373312.3	-	14	2379	c.2166G>T	c.(2164-2166)caG>caT	p.Q722H	FAM129B_ENST00000468379.1_5'Flank|FAM129B_ENST00000373314.3_Missense_Mutation_p.Q709H	NM_022833.2	NP_073744.2	Q96TA1	NIBL1_HUMAN	family with sequence similarity 129, member B	722					negative regulation of apoptotic process (GO:0043066)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25						GGCTGGACACCTGCTCTCCAG	0.677																																						ENST00000373312.3																			0				breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25						c.(2164-2166)caG>caT		family with sequence similarity 129, member B							58	57	57					9																	130269199		2203	4300	6503	SO:0001583	missense	64855						protein binding	g.chr9:130269199C>A	AF151783	CCDS35144.1, CCDS35145.1	9q34.13	2010-02-01	2006-11-23	2006-11-23	ENSG00000136830	ENSG00000136830			25282	protein-coding gene	gene with protein product		614045	"chromosome 9 open reading frame 88"	C9orf88		14702039, 19362540	Standard	XM_005252135		Approved	DKFZP434H0820, FLJ13518, FLJ22151, FLJ22298, bA356B19.6, MINERVA	uc004brh.3	Q96TA1	OTTHUMG00000020705	ENST00000373312.3:c.2166G>T	9.37:g.130269199C>A	ENSP00000362409:p.Gln722His					FAM129B_ENST00000373314.3_Missense_Mutation_p.Q709H	p.Q722H	NM_022833.2	NP_073744.2	Q96TA1	NIBL1_HUMAN			14	2379	-			722					Q4LE55|Q5VVW6|Q5VVW7|Q9BUS2|Q9NT35	Missense_Mutation	SNP	ENST00000373312.3	37	c.2166G>T	CCDS35145.1	.	.	.	.	.	.	.	.	.	.	C	14.54	2.564441	0.45694	.	.	ENSG00000136830	ENST00000373314;ENST00000538931;ENST00000373312	T;T	0.24151	1.87;1.87	4.84	1.74	0.24563	.	0.768703	0.12287	N	0.482360	T	0.18045	0.0433	L	0.36672	1.1	0.32047	N	0.597463	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.15838	-1.0423	10	0.62326	D	0.03	-28.445	4.5663	0.12187	0.0:0.6141:0.1822:0.2037	.	709;722	Q96TA1-2;Q96TA1	.;NIBL1_HUMAN	H	709;372;722	ENSP00000362411:Q709H;ENSP00000362409:Q722H	ENSP00000362409:Q722H	Q	-	3	2	FAM129B	129309020	0.000000	0.05858	1.000000	0.80357	0.871000	0.50021	-0.050000	0.11904	0.444000	0.26612	0.561000	0.74099	CAG		0.677	FAM129B-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054196.1	NM_022833		22	27	1	0	9.95505e-16	1	1.0907e-15	22	27					A	130269199	C	A	130269199	3	1	435	1	0	0	0	0	1	0	0	0	5437	680	24	5	78	5	FAM129B	9	130269199	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	101451	130269199	10944232	4451	25376											
FAM129B	64855	broad.mit.edu	37	chr9	130286015	130286015	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgccacttgtcctgctcggCttctgtcatcatgcagaagt	6	13	9	13	1	3	1	2	0	1	1	5	1	4	1	2	1	3	3	2	1	1	2	rs144153796		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:130286015C>A	ENST00000373312.3	-	5	745	c.532G>T	c.(532-534)Gcc>Tcc	p.A178S	FAM129B_ENST00000468379.1_Intron|FAM129B_ENST00000373314.3_Missense_Mutation_p.A165S	NM_022833.2	NP_073744.2	Q96TA1	NIBL1_HUMAN	family with sequence similarity 129, member B	178	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				negative regulation of apoptotic process (GO:0043066)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25						TCCTGCTCGGCTTCTGTCATC	0.607											OREG0019507	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000373312.3																			0				breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25						c.(532-534)Gcc>Tcc		family with sequence similarity 129, member B							107	89	95					9																	130286015		2203	4300	6503	SO:0001583	missense	64855						protein binding	g.chr9:130286015C>A	AF151783	CCDS35144.1, CCDS35145.1	9q34.13	2010-02-01	2006-11-23	2006-11-23	ENSG00000136830	ENSG00000136830			25282	protein-coding gene	gene with protein product		614045	"chromosome 9 open reading frame 88"	C9orf88		14702039, 19362540	Standard	XM_005252135		Approved	DKFZP434H0820, FLJ13518, FLJ22151, FLJ22298, bA356B19.6, MINERVA	uc004brh.3	Q96TA1	OTTHUMG00000020705	ENST00000373312.3:c.532G>T	9.37:g.130286015C>A	ENSP00000362409:p.Ala178Ser		OREG0019507	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1579	FAM129B_ENST00000373314.3_Missense_Mutation_p.A165S|FAM129B_ENST00000468379.1_Intron	p.A178S	NM_022833.2	NP_073744.2	Q96TA1	NIBL1_HUMAN			5	745	-			178			PH.		Q4LE55|Q5VVW6|Q5VVW7|Q9BUS2|Q9NT35	Missense_Mutation	SNP	ENST00000373312.3	37	c.532G>T	CCDS35145.1	.	.	.	.	.	.	.	.	.	.	C	13.88	2.368236	0.42003	.	.	ENSG00000136830	ENST00000373314;ENST00000373312	T;T	0.17370	2.28;2.28	5.24	2.27	0.28462	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	0.503980	0.20870	N	0.084184	T	0.07999	0.0200	L	0.28115	0.83	0.31914	N	0.614288	B;B	0.23058	0.029;0.079	B;B	0.17433	0.018;0.018	T	0.13791	-1.0496	10	0.15066	T	0.55	-19.9325	1.3335	0.02140	0.1662:0.4529:0.1824:0.1985	.	165;178	Q96TA1-2;Q96TA1	.;NIBL1_HUMAN	S	165;178	ENSP00000362411:A165S;ENSP00000362409:A178S	ENSP00000362409:A178S	A	-	1	0	FAM129B	129325836	1.000000	0.71417	0.682000	0.30024	0.899000	0.52679	3.120000	0.50430	1.212000	0.43366	0.561000	0.74099	GCC		0.607	FAM129B-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054196.1	NM_022833		10	31	1	0	0.000442599	1	0.000451009	10	31					A	130286015	C	A	130286015	3	1	435	1	0	0	0	0	1	0	0	0	5437	797	28	5	1748	5	FAM129B	9	130286015	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	16816	130286015	10927416	4452	25377											
STXBP1	6812	broad.mit.edu	37	chr9	130438090	130438090	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gtgttttccttaggacctggCcatgggcacagatgctgagg	7	11	14	9	0	0	2	0	1	0	1	1	3	1	3	3	4	1	3	3	4	1	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:130438090C>T	ENST00000373299.1	+	14	1233	c.1118C>T	c.(1117-1119)gCc>gTc	p.A373V	STXBP1_ENST00000373302.3_Missense_Mutation_p.A373V|STXBP1_ENST00000481942.1_3'UTR	NM_001032221.3	NP_001027392.1	P61764	STXB1_HUMAN	syntaxin binding protein 1	373					axon target recognition (GO:0007412)|energy reserve metabolic process (GO:0006112)|glutamate secretion (GO:0014047)|long term synaptic depression (GO:0060292)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic transmission, GABAergic (GO:0032229)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter secretion (GO:0007269)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of calcium ion-dependent exocytosis (GO:0045956)|protein stabilization (GO:0050821)|protein transport (GO:0015031)|regulation of insulin secretion (GO:0050796)|regulation of SNARE complex assembly (GO:0035542)|regulation of synaptic vesicle fusion to presynaptic membrane (GO:0031630)|regulation of synaptic vesicle priming (GO:0010807)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|synaptic vesicle maturation (GO:0016188)|vesicle docking involved in exocytosis (GO:0006904)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|platelet alpha granule (GO:0031091)|protein complex (GO:0043234)	identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|SNARE binding (GO:0000149)|syntaxin binding (GO:0019905)|syntaxin-1 binding (GO:0017075)			breast(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(7)|skin(2)	23						TAGGACCTGGCCATGGGCACA	0.498																																						ENST00000373302.3																			0				breast(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(7)|skin(2)	23						c.(1117-1119)gCc>gTc		syntaxin binding protein 1							113	87	96					9																	130438090		2203	4300	6503	SO:0001583	missense	6812				axon target recognition|energy reserve metabolic process|glutamate secretion|negative regulation of synaptic transmission, GABAergic|neurotransmitter secretion|platelet aggregation|platelet degranulation|protein transport|regulation of insulin secretion|regulation of synaptic vesicle priming|synaptic vesicle maturation|vesicle docking involved in exocytosis	cytosol|mitochondrion|plasma membrane|platelet alpha granule|protein complex	identical protein binding|syntaxin-1 binding|syntaxin-2 binding	g.chr9:130438090C>T	AF004563	CCDS6874.1, CCDS35146.1	9q34.1	2008-07-21			ENSG00000136854	ENSG00000136854			11444	protein-coding gene	gene with protein product	"syntaxin-binding protein 1"	602926				9545644	Standard	NM_001032221		Approved	hUNC18, MUNC18-1, UNC18, rbSec1	uc004brk.2	P61764	OTTHUMG00000020713	ENST00000373299.1:c.1118C>T	9.37:g.130438090C>T	ENSP00000362396:p.Ala373Val					STXBP1_ENST00000373299.1_Missense_Mutation_p.A373V|STXBP1_ENST00000481942.1_3'UTR	p.A373V	NM_003165.3	NP_003156.1	P61764	STXB1_HUMAN			14	1257	+			373					B1AM97|Q28208|Q62759|Q64320|Q96TG8	Missense_Mutation	SNP	ENST00000373299.1	37	c.1118C>T	CCDS35146.1	.	.	.	.	.	.	.	.	.	.	C	33	5.200809	0.94997	.	.	ENSG00000136854	ENST00000535154;ENST00000373302;ENST00000541198;ENST00000373299	T;T	0.79247	-1.25;-1.25	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	D	0.84061	0.5389	L	0.58583	1.82	0.80722	D	1	D;D	0.64830	0.994;0.992	P;P	0.59012	0.85;0.767	T	0.82989	-0.0183	10	0.42905	T	0.14	-0.2942	17.491	0.87703	0.0:1.0:0.0:0.0	.	373;373	P61764;P61764-2	STXB1_HUMAN;.	V	327;373;205;373	ENSP00000362399:A373V;ENSP00000362396:A373V	ENSP00000362396:A373V	A	+	2	0	STXBP1	129477911	1.000000	0.71417	0.997000	0.53966	0.997000	0.91878	7.776000	0.85560	2.793000	0.96121	0.655000	0.94253	GCC		0.498	STXBP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054229.1	NM_003165		10	12	0	0	0	1	0	10	12					T	130438090	C	T	130438090	3	4	435	1	0	0	0	0	1	0	0	0	15351	739	26	3	1172	3	STXBP1	9	130438090	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	152075	130438090	10775341	4453	25378											
C9orf117	286207	broad.mit.edu	37	chr9	130471805	130471805	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gattgtggccttcctcaagcGcacgctcaaccagcaggtgg	8	8	12	13	2	2	0	2	0	0	0	3	1	3	0	3	3	3	3	3	3	2	2	rs567018611		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:130471805G>A	ENST00000373295.2	+	2	306	c.266G>A	c.(265-267)cGc>cAc	p.R89H	C9orf117_ENST00000373293.5_5'Flank	NM_001012502.2	NP_001012520.2	Q5JU67	CI117_HUMAN	chromosome 9 open reading frame 117	89										breast(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)	6						TTCCTCAAGCGCACGCTCAAC	0.557													G|||	1	0.000199681	0	0	5008	,	,		25025	0.001		0	False		,,,				2504	0					ENST00000373295.2																			0				breast(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)	6						c.(265-267)cGc>cAc		chromosome 9 open reading frame 117							62	65	64					9																	130471805		2115	4251	6366	SO:0001583	missense	286207							g.chr9:130471805G>A	AK094948	CCDS43878.1	9q34.11	2012-04-02			ENSG00000160401	ENSG00000160401			27843	protein-coding gene	gene with protein product							Standard	NM_001012502		Approved		uc004brn.1	Q5JU67	OTTHUMG00000020709	ENST00000373295.2:c.266G>A	9.37:g.130471805G>A	ENSP00000362392:p.Arg89His						p.R89H	NM_001012502.2	NP_001012520.2	Q5JU67	CI117_HUMAN			2	306	+			89					A5D8T9	Missense_Mutation	SNP	ENST00000373295.2	37	c.266G>A	CCDS43878.1	.	.	.	.	.	.	.	.	.	.	G	16.21	3.059287	0.55325	.	.	ENSG00000160401	ENST00000373295	T	0.42513	0.97	5.12	4.22	0.49857	.	0.275892	0.41194	N	0.000938	T	0.35364	0.0929	M	0.70275	2.135	0.80722	D	1	P	0.40180	0.705	B	0.24701	0.055	T	0.27502	-1.0072	10	0.41790	T	0.15	-14.4241	11.1821	0.48633	0.0901:0.0:0.9098:0.0	.	89	Q5JU67	CI117_HUMAN	H	89	ENSP00000362392:R89H	ENSP00000362392:R89H	R	+	2	0	C9orf117	129511626	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	3.685000	0.54678	1.152000	0.42452	0.511000	0.50034	CGC		0.557	C9orf117-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054215.2	NM_001012502		7	19	0	0	0	1	0	7	19					A	130471805	G	A	130471805	3	1	435	1	0	0	0	0	1	0	0	0	2451	1087	38	1	272	1	C9orf117	9	130471805	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	33715	130471805	10741626	4454	25379											
C9orf117	286207	broad.mit.edu	37	chr9	130473655	130473655	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccagggtctcccagcaaggCatgaagctgctgcaggagaa	11	5	14	11	0	1	2	0	1	1	1	2	3	1	2	2	3	4	5	2	3	3	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:130473655C>T	ENST00000373295.2	+	4	775	c.735C>T	c.(733-735)ggC>ggT	p.G245G	C9orf117_ENST00000373293.5_5'Flank	NM_001012502.2	NP_001012520.2	Q5JU67	CI117_HUMAN	chromosome 9 open reading frame 117	245										breast(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)	6						CCCAGCAAGGCATGAAGCTGC	0.562																																						ENST00000373295.2																			0				breast(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)	6						c.(733-735)ggC>ggT		chromosome 9 open reading frame 117							65	67	66					9																	130473655		2005	4183	6188	SO:0001819	synonymous_variant	286207							g.chr9:130473655C>T	AK094948	CCDS43878.1	9q34.11	2012-04-02			ENSG00000160401	ENSG00000160401			27843	protein-coding gene	gene with protein product							Standard	NM_001012502		Approved		uc004brn.1	Q5JU67	OTTHUMG00000020709	ENST00000373295.2:c.735C>T	9.37:g.130473655C>T							p.G245G	NM_001012502.2	NP_001012520.2	Q5JU67	CI117_HUMAN			4	775	+			245					A5D8T9	Silent	SNP	ENST00000373295.2	37	c.735C>T	CCDS43878.1																																																																																				0.562	C9orf117-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054215.2	NM_001012502		10	24	0	0	0	1	0	10	24					T	130473655	C	T	130473655	2	4	435	1	0	0	0	0	0	0	0	1	2451	697	25	3		3	C9orf117	9	130473655	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	1850	130473655	10739776	4455	25380											
FPGS	2356	broad.mit.edu	37	chr9	130570836	130570836	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctcctgcctgtctcccctaGtgtcctctatacctgtgtcc	3	14	7	17	0	2	0	0	0	2	0	6	0	5	0	7	0	2	1	7	0	3	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:130570836G>A	ENST00000373247.2	+	10	872		c.e10-1		FPGS_ENST00000373225.3_Splice_Site|FPGS_ENST00000460181.1_Splice_Site|FPGS_ENST00000393706.2_Splice_Site|FPGS_ENST00000373245.1_Intron	NM_004957.4	NP_004948.4	Q05932	FOLC_HUMAN	folylpolyglutamate synthase						brain development (GO:0007420)|folic acid metabolic process (GO:0046655)|liver development (GO:0001889)|nucleobase-containing compound metabolic process (GO:0006139)|one-carbon metabolic process (GO:0006730)|organ regeneration (GO:0031100)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|tetrahydrofolylpolyglutamate synthase activity (GO:0004326)			endometrium(2)|kidney(1)|lung(3)|ovary(1)	7					Methotrexate(DB00563)|Pralatrexate(DB06813)|Raltitrexed(DB00293)	GTCTCCCCTAGTGTCCTCTAT	0.687																																						ENST00000373225.3																			0				endometrium(2)|kidney(1)|lung(3)|ovary(1)	7						c.e10-1		folylpolyglutamate synthase	L-Glutamic Acid(DB00142)						17	17	17					9																	130570836		2202	4299	6501	SO:0001630	splice_region_variant	2356				folic acid metabolic process|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|one-carbon metabolic process	cytosol|mitochondrial matrix	ATP binding|tetrahydrofolylpolyglutamate synthase activity	g.chr9:130570836G>A		CCDS35148.1, CCDS35149.1, CCDS75905.1	9q34.11	2013-09-19			ENSG00000136877	ENSG00000136877	6.3.2.17		3824	protein-coding gene	gene with protein product		136510					Standard	NM_004957		Approved		uc004bsg.1	Q05932	OTTHUMG00000020716	ENST00000373247.2:c.823-1G>A	9.37:g.130570836G>A						FPGS_ENST00000373247.2_Splice_Site|FPGS_ENST00000393706.2_Splice_Site|FPGS_ENST00000373245.1_Intron|FPGS_ENST00000460181.1_Splice_Site		NM_001018078.1	NP_001018088.1	Q05932	FOLC_HUMAN			10	881	+								B3KPW4|B7Z2Z3|F5H0K6|Q5JU19|Q5JU22|Q6P2P6	Splice_Site	SNP	ENST00000373247.2	37		CCDS35148.1	.	.	.	.	.	.	.	.	.	.	G	18.56	3.649399	0.67358	.	.	ENSG00000136877	ENST00000373247;ENST00000393706;ENST00000373225	.	.	.	5.21	5.21	0.72293	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.4686	0.75422	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	FPGS	129610657	1.000000	0.71417	0.996000	0.52242	0.816000	0.46133	8.866000	0.92307	2.450000	0.82876	0.462000	0.41574	.		0.687	FPGS-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054251.1		Intron	4	12	0	0	0	1	0	4	12					A	130570836	G	A	130570836	5	1	435	1	0	0	0	0	0	0	1	0	6036	1043	36	3	860	3	FPGS	9	130570836	Splice_Site	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	97181	130570836	10642595	4456	25381											
ENG	2022	broad.mit.edu	37	chr9	130578318	130578318	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cacggcgggcaggacgaggcCtttgcttgtgcaacctagag	8	7	15	11	3	0	1	0	0	0	1	0	3	0	2	2	4	3	3	2	4	2	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:130578318C>A	ENST00000373203.4	-	14	2156	c.1756G>T	c.(1756-1758)Ggc>Tgc	p.G586C	ENG_ENST00000344849.3_Missense_Mutation_p.G586C|RP11-228B15.4_ENST00000425991.1_RNA|ENG_ENST00000480266.1_5'Flank|RP11-228B15.4_ENST00000439298.1_RNA	NM_000118.2|NM_001114753.1|NM_001278138.1	NP_000109.1|NP_001108225.1|NP_001265067.1	P17813	EGLN_HUMAN	endoglin	586					artery morphogenesis (GO:0048844)|BMP signaling pathway (GO:0030509)|bone development (GO:0060348)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell migration (GO:0016477)|cell migration involved in endocardial cushion formation (GO:0003273)|cell motility (GO:0048870)|cellular response to mechanical stimulus (GO:0071260)|central nervous system vasculogenesis (GO:0022009)|chronological cell aging (GO:0001300)|detection of hypoxia (GO:0070483)|extracellular matrix constituent secretion (GO:0070278)|extracellular matrix disassembly (GO:0022617)|heart looping (GO:0001947)|intracellular signal transduction (GO:0035556)|negative regulation of cell migration (GO:0030336)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of nitric-oxide synthase activity (GO:0051001)|negative regulation of pathway-restricted SMAD protein phosphorylation (GO:0060394)|negative regulation of protein autophosphorylation (GO:0031953)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|patterning of blood vessels (GO:0001569)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of gene expression (GO:0010628)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of systemic arterial blood pressure (GO:0003084)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell adhesion (GO:0030155)|regulation of cell proliferation (GO:0042127)|regulation of phosphorylation (GO:0042325)|regulation of transcription, DNA-templated (GO:0006355)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|response to corticosteroid (GO:0031960)|response to hypoxia (GO:0001666)|response to statin (GO:0036273)|response to transforming growth factor beta (GO:0071559)|smooth muscle tissue development (GO:0048745)|transforming growth factor beta receptor signaling pathway (GO:0007179)|vasculogenesis (GO:0001570)|venous blood vessel morphogenesis (GO:0048845)|wound healing (GO:0042060)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|endothelial microparticle (GO:0072563)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|transforming growth factor beta receptor homodimeric complex (GO:0070022)	activin binding (GO:0048185)|galactose binding (GO:0005534)|glycosaminoglycan binding (GO:0005539)|protein homodimerization activity (GO:0042803)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta receptor, cytoplasmic mediator activity (GO:0005072)|transforming growth factor beta-activated receptor activity (GO:0005024)|transmembrane signaling receptor activity (GO:0004888)|type I transforming growth factor beta receptor binding (GO:0034713)|type II transforming growth factor beta receptor binding (GO:0005114)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	17						AGGACGAGGCCTTTGCTTGTG	0.632									Juvenile Polyposis;Hereditary Hemorrhagic Telangiectasia																													ENST00000344849.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	17						c.(1756-1758)Ggc>Tgc		endoglin							85	65	72					9																	130578318		2201	4300	6501	SO:0001583	missense	2022	Juvenile Polyposis;Hereditary Hemorrhagic Telangiectasia	Familial Cancer Database	incl.: Juvenile Polyposis of the Stomach;HHT, Rendu-Osler-Weber disease, incl.: Pulmonary arteriovenous malformations, hypertrophic osteoarthropathy and juvenile polyposis,	artery morphogenesis|BMP signaling pathway|cell adhesion|cell chemotaxis|central nervous system vasculogenesis|chronological cell aging|detection of hypoxia|extracellular matrix disassembly|heart looping|negative regulation of endothelial cell proliferation|negative regulation of nitric-oxide synthase activity|negative regulation of pathway-restricted SMAD protein phosphorylation|negative regulation of protein autophosphorylation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|patterning of blood vessels|positive regulation of BMP signaling pathway|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of systemic arterial blood pressure|positive regulation of transcription from RNA polymerase II promoter|regulation of cell adhesion|regulation of cell proliferation|regulation of transcription, DNA-dependent|regulation of transforming growth factor beta receptor signaling pathway|smooth muscle tissue development|transforming growth factor beta receptor signaling pathway|venous blood vessel morphogenesis|wound healing	cell surface|external side of plasma membrane|extracellular space|membrane fraction	activin binding|galactose binding|glycosaminoglycan binding|protein homodimerization activity|transforming growth factor beta binding|transforming growth factor beta receptor activity|transforming growth factor beta receptor, cytoplasmic mediator activity|transmembrane receptor activity|type I transforming growth factor beta receptor binding|type II transforming growth factor beta receptor binding	g.chr9:130578318C>A	AF035753	CCDS6880.1, CCDS48029.1, CCDS75906.1	9q34.11	2014-09-17	2008-09-04		ENSG00000106991	ENSG00000106991		"CD molecules"	3349	protein-coding gene	gene with protein product		131195	"Osler-Rendu-Weber syndrome 1"	ORW1, ORW		8404038, 10548503	Standard	NM_001278138		Approved	END, HHT1, CD105	uc031tfe.1	P17813	OTTHUMG00000020723	ENST00000373203.4:c.1756G>T	9.37:g.130578318C>A	ENSP00000362299:p.Gly586Cys					ENG_ENST00000373203.4_Missense_Mutation_p.G586C	p.G586C			P17813	EGLN_HUMAN			14	2036	-			586					Q14248|Q14926|Q5T9C0	Missense_Mutation	SNP	ENST00000373203.4	37	c.1756G>T	CCDS48029.1	.	.	.	.	.	.	.	.	.	.	C	16.07	3.018871	0.54576	.	.	ENSG00000106991	ENST00000373203;ENST00000344849;ENST00000545345;ENST00000546301	T;T	0.63913	-0.07;0.65	5.29	0.494	0.16884	.	0.605099	0.16277	N	0.221529	T	0.61248	0.2332	L	0.29908	0.895	0.30965	N	0.72321	D;D	0.76494	0.999;0.999	D;D	0.65573	0.936;0.936	T	0.60910	-0.7169	10	0.87932	D	0	-1.215	5.4384	0.16494	0.0:0.6958:0.137:0.1672	.	586;586	Q5T9B9;P17813	.;EGLN_HUMAN	C	586;586;586;404	ENSP00000362299:G586C;ENSP00000341917:G586C	ENSP00000341917:G586C	G	-	1	0	ENG	129618139	0.979000	0.34478	0.320000	0.25306	0.892000	0.51952	1.833000	0.39161	-0.199000	0.10317	0.462000	0.41574	GGC		0.632	ENG-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054313.1			4	7	1	0	0.00024832	1	0.000253518	4	7					A	130578318	C	A	130578318	3	1	435	1	0	0	0	0	1	0	0	0	5117	681	24	5	254	5	ENG	9	130578318	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	7482	130578318	10635113	4457	25382											
AK1	203	broad.mit.edu	37	chr9	130634180	130634180	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctttggaagtattgactttGgccaccatggcatcccggag	8	11	11	11	1	0	1	0	1	0	0	1	3	1	3	4	4	0	2	4	4	2	4	rs73669436	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:130634180G>A	ENST00000373176.1	-	5	398	c.246C>T	c.(244-246)gcC>gcT	p.A82A	AK1_ENST00000373156.1_Silent_p.A82A|RP11-203J24.9_ENST00000476274.2_RNA|AK1_ENST00000223836.10_Silent_p.A98A|MIR4672_ENST00000583126.1_RNA	NM_000476.2	NP_000467.1			adenylate kinase 1											endometrium(1)|prostate(1)	2						TATTGACTTTGGCCACCATGG	0.587																																						ENST00000373176.1																			0				endometrium(1)|prostate(1)	2						c.(244-246)gcC>gcT		adenylate kinase 1							138	120	126					9																	130634180		2203	4300	6503	SO:0001819	synonymous_variant	203				ATP metabolic process|nucleobase, nucleoside and nucleotide interconversion	cytosol	adenylate kinase activity|ATP binding|protein binding	g.chr9:130634180G>A	J04809	CCDS6881.1	9q34.1	2008-02-05			ENSG00000106992	ENSG00000106992	2.7.4.3	"Adenylate kinases"	361	protein-coding gene	gene with protein product		103000					Standard	NM_000476		Approved		uc004bsm.4	P00568	OTTHUMG00000020722	ENST00000373176.1:c.246C>T	9.37:g.130634180G>A						AK1_ENST00000373156.1_Silent_p.A82A|RP11-203J24.9_ENST00000476274.2_RNA|AK1_ENST00000223836.10_Silent_p.A98A	p.A82A	NM_000476.2	NP_000467.1	P00568	KAD1_HUMAN			5	398	-			82						Silent	SNP	ENST00000373176.1	37	c.246C>T	CCDS6881.1	.	.	.	.	.	.	.	.	.	.	G	12.03	1.814847	0.32053	.	.	ENSG00000106992	ENST00000413016	.	.	.	4.78	2.86	0.33363	.	.	.	.	.	T	0.59169	0.2174	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.55673	-0.8104	4	.	.	.	-15.1596	9.7774	0.40628	0.0836:0.1439:0.7726:0.0	.	.	.	.	L	23	.	.	P	-	2	0	AK1	129674001	1.000000	0.71417	0.996000	0.52242	0.572000	0.35998	5.039000	0.64185	1.096000	0.41439	0.555000	0.69702	CCA		0.587	AK1-008	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054307.1			6	15	0	0	0	1	0	6	15					A	130634180	G	A	130634180	2	1	435	1	0	0	0	0	0	0	0	1	439	1335	47	3		3	AK1	9	130634180	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	55862	130634180	10579251	4458	25383											
ST6GALNAC4	27090	broad.mit.edu	37	chr9	130674860	130674860	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcctggttcatgcggaacaCgcactcggcactgtcgatct	7	9	11	14	5	2	0	1	0	1	0	4	2	2	1	1	3	2	3	1	3	1	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:130674860C>T	ENST00000335791.5	-	4	573	c.298G>A	c.(298-300)Gtg>Atg	p.V100M	ST6GALNAC4_ENST00000495983.1_5'UTR|ST6GALNAC4_ENST00000343609.2_Missense_Mutation_p.V16M	NM_175039.3	NP_778204.1	Q9H4F1	SIA7D_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 4	100					cellular protein metabolic process (GO:0044267)|glycolipid metabolic process (GO:0006664)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|sialylation (GO:0097503)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	(alpha-N-acetylneuraminyl-2,3-beta-galactosyl-1,3)-N-acetyl-galactosaminide 6-alpha-sialyltransferase activity (GO:0047290)|sialyltransferase activity (GO:0008373)			endometrium(1)|large_intestine(2)|lung(2)|prostate(2)	7						ATGCGGAACACGCACTCGGCA	0.682																																						ENST00000335791.5																			0				endometrium(1)|large_intestine(2)|lung(2)|prostate(2)	7						c.(298-300)Gtg>Atg		ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 4							42	37	39					9																	130674860		2203	4299	6502	SO:0001583	missense	27090				glycolipid metabolic process|protein glycosylation	integral to Golgi membrane|nucleus|soluble fraction	(alpha-N-acetylneuraminyl-2,3-beta-galactosyl-1,3)-N-acetyl-galactosaminide 6-alpha-sialyltransferase activity	g.chr9:130674860C>T	AB035172	CCDS6883.1	9q34	2013-03-01	2005-02-07	2005-02-07	ENSG00000136840	ENSG00000136840	2.4.99.7	"Sialyltransferases"	17846	protein-coding gene	gene with protein product		606378	"sialyltransferase 7D ((alpha-N-acetylneuraminyl-2,3-beta-galactosyl-1,3)-N-acetyl galactosaminide alpha-2,6-sialyltransferase)"	SIAT7D		10207017, 11062056	Standard	XM_005251922		Approved	ST6GALNACIV, SIAT3C	uc004bss.3	Q9H4F1	OTTHUMG00000020724	ENST00000335791.5:c.298G>A	9.37:g.130674860C>T	ENSP00000336733:p.Val100Met					ST6GALNAC4_ENST00000343609.2_Missense_Mutation_p.V16M|ST6GALNAC4_ENST00000495983.1_5'UTR	p.V100M	NM_175039.3	NP_778204.1	Q9H4F1	SIA7D_HUMAN			4	573	-			100					Q5T9D0|Q9NWU6|Q9UKU1|Q9ULB9|Q9Y3G3|Q9Y3G4	Missense_Mutation	SNP	ENST00000335791.5	37	c.298G>A	CCDS6883.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.390505	0.82902	.	.	ENSG00000136840	ENST00000541933;ENST00000335791;ENST00000343609;ENST00000361444	T;T;T	0.60797	0.16;0.16;0.16	5.58	3.63	0.41609	.	0.000000	0.85682	D	0.000000	T	0.77412	0.4126	M	0.92833	3.35	0.58432	D	0.999997	D	0.76494	0.999	D	0.63703	0.917	T	0.81623	-0.0849	10	0.87932	D	0	-9.2979	10.068	0.42315	0.0:0.7869:0.1379:0.0753	.	100	Q9H4F1	SIA7D_HUMAN	M	16;100;16;16	ENSP00000336733:V100M;ENSP00000340382:V16M;ENSP00000355130:V16M	ENSP00000336733:V100M	V	-	1	0	ST6GALNAC4	129714681	1.000000	0.71417	0.995000	0.50966	0.880000	0.50808	6.041000	0.70988	1.362000	0.46000	0.462000	0.41574	GTG		0.682	ST6GALNAC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054317.2	NM_175040		12	12	0	0	0	1	0	12	12					T	130674860	C	T	130674860	3	4	435	1	0	0	0	0	1	0	0	0	15225	536	19	1	622	1	ST6GALNAC4	9	130674860	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	40680	130674860	10538571	4459	25384											
NAIF1	203245	broad.mit.edu	37	chr9	130829094	130829094	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgtcctcctcagtgggccccGgcgcctcaccaccctccacg	4	6	9	22	4	2	0	2	0	0	0	5	0	5	0	8	2	0	0	8	2	0	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:130829094G>A	ENST00000373078.4	-	1	506	c.287C>T	c.(286-288)cCg>cTg	p.P96L	SLC25A25_ENST00000373068.2_5'Flank|SLC25A25_ENST00000373069.5_5'Flank|NAIF1_ENST00000488519.1_5'Flank	NM_197956.3	NP_931045.1	Q69YI7	NAIF1_HUMAN	nuclear apoptosis inducing factor 1	96	Gly-rich.				negative regulation of cell growth (GO:0030308)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						AGTGGGCCCCGGCGCCTCACC	0.687																																						ENST00000373078.4																			0				central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						c.(286-288)cCg>cTg		nuclear apoptosis inducing factor 1							34	36	35					9																	130829094		2202	4298	6500	SO:0001583	missense	203245				apoptosis|induction of apoptosis	nucleus		g.chr9:130829094G>A	AK122729	CCDS6889.1	9q34.11	2008-04-10	2008-04-10	2008-04-10	ENSG00000171169	ENSG00000171169			25446	protein-coding gene	gene with protein product	"nuclear apoptosis-inducing factor 1"	610673	"chromosome 9 open reading frame 90"	C9orf90		14702039, 16378748	Standard	NM_197956		Approved	DKFZp762G199, bA379C10.2	uc004bta.3	Q69YI7	OTTHUMG00000020727	ENST00000373078.4:c.287C>T	9.37:g.130829094G>A	ENSP00000362170:p.Pro96Leu						p.P96L	NM_197956.3	NP_931045.1	Q69YI7	NAIF1_HUMAN			1	506	-			96			Gly-rich.		B3KV81|Q8WU12	Missense_Mutation	SNP	ENST00000373078.4	37	c.287C>T	CCDS6889.1	.	.	.	.	.	.	.	.	.	.	G	13.45	2.241410	0.39598	.	.	ENSG00000171169	ENST00000373078	.	.	.	5.0	4.06	0.47325	.	0.168032	0.42053	D	0.000766	T	0.29620	0.0739	N	0.08118	0	0.39487	D	0.967973	B	0.30824	0.296	B	0.24155	0.051	T	0.32534	-0.9903	9	0.72032	D	0.01	-17.1532	10.7146	0.46005	0.0:0.0:0.6854:0.3146	.	96	Q69YI7	NAIF1_HUMAN	L	96	.	ENSP00000362170:P96L	P	-	2	0	NAIF1	129868915	1.000000	0.71417	0.997000	0.53966	0.535000	0.34838	1.505000	0.35736	2.607000	0.88179	0.655000	0.94253	CCG		0.687	NAIF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054330.1	NM_197956		5	43	0	0	0	1	0	5	43					A	130829094	G	A	130829094	3	1	435	1	0	0	0	0	1	0	0	0	10146	1116	39	2	704	2	NAIF1	9	130829094	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	154234	130829094	10384337	4460	25385											
SLC25A25	114789	broad.mit.edu	37	chr9	130854244	130854244	+	Frame_Shift_Del	DEL	C	C	-																															cgatcgtgaagtcagaggcaCcccagcccctgcctggagag																										TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:130854244delC	ENST00000373066.5	+	1	502	c.95delC	c.(94-96)accfs	p.T32fs	SLC25A25_ENST00000373068.2_Intron|SLC25A25_ENST00000373069.5_Intron|SLC25A25_ENST00000432073.2_Frame_Shift_Del_p.T32fs|RP11-379C10.4_ENST00000453870.1_RNA	NM_001265614.2	NP_001252543.1	Q6KCM7	SCMC2_HUMAN	solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 25	0					adipose tissue development (GO:0060612)|ATP metabolic process (GO:0046034)|calcium ion transmembrane transport (GO:0070588)|camera-type eye development (GO:0043010)|cellular respiration (GO:0045333)|multicellular organism growth (GO:0035264)|response to activity (GO:0014823)|response to dietary excess (GO:0002021)|response to food (GO:0032094)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)	10						GTCAGAGGCACCCCAGCCCCT	0.577																																						ENST00000373066.5																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)	10						c.(94-96)acfs		solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 25							100	115	110					9																	130854244		1940	4135	6075	SO:0001589	frameshift_variant	114789				transmembrane transport	integral to membrane|mitochondrial inner membrane	calcium ion binding	g.chr9:130854244delC	AJ619963	CCDS6890.1, CCDS35151.1, CCDS48031.1, CCDS59146.1	9q34	2013-05-22			ENSG00000148339	ENSG00000148339		"Solute carriers", "EF-hand domain containing"	20663	protein-coding gene	gene with protein product		608745				15123600	Standard	NM_052901		Approved	KIAA1896, PCSCL, MCSC	uc004btb.4	Q6KCM7	OTTHUMG00000020736	ENST00000373066.5:c.95delC	9.37:g.130854244delC	ENSP00000362157:p.Thr32fs					RP11-379C10.4_ENST00000453870.1_RNA|SLC25A25_ENST00000432073.2_Frame_Shift_Del_p.T32fs|SLC25A25_ENST00000373068.2_Intron|SLC25A25_ENST00000373069.5_Intron	p.T32fs	NM_001265614.2	NP_001252543.1	Q6KCM7	SCMC2_HUMAN			1	502	+			0					Q5SYW7|Q5SYW8|Q5SYX3|Q5VWU2|Q5VWU3|Q5VWU4|Q6KCM4|Q6KCM6|Q6UX48|Q705K2|Q96PZ1|Q9BSA6	Frame_Shift_Del	DEL	ENST00000373066.5	37	c.95delC	CCDS59146.1																																																																																				0.577	SLC25A25-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054406.1	NM_052901		30	80						30	80	---	---	---	---	-	130854244	C	-	130854244	7	5	435	1	0	1	0	1	0	0	0	0	14488	507	18	0	362	0	SLC25A25	9	130854244	Frame_Shift_Del	DEL	C	TCGA-XK-AAIW-01A-11D-A41K-08	25150	130854244	10359187	4461	25386											
DNM1	1759	broad.mit.edu	37	chr9	131008675	131008675	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctacctgcacccacaggaGaaagagaagaaatacatgct	16	6	8	11	0	0	3	0	0	0	3	1	5	1	3	3	1	4	2	3	1	5	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:131008675G>T	ENST00000372923.3	+	16	1766	c.1674G>T	c.(1672-1674)gaG>gaT	p.E558D	DNM1_ENST00000475805.1_Missense_Mutation_p.E558D|DNM1_ENST00000493925.1_3'UTR|DNM1_ENST00000393594.3_Missense_Mutation_p.E558D|MIR3154_ENST00000577829.1_RNA|MIR199B_ENST00000384849.1_RNA|DNM1_ENST00000486160.1_Missense_Mutation_p.E558D|DNM1_ENST00000341179.7_Missense_Mutation_p.E558D	NM_004408.2	NP_004399.2	Q05193	DYN1_HUMAN	dynamin 1	558	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				endocytosis (GO:0006897)|endosome organization (GO:0007032)|GTP catabolic process (GO:0006184)|receptor internalization (GO:0031623)|receptor-mediated endocytosis (GO:0006898)	extracellular vesicular exosome (GO:0070062)|membrane coat (GO:0030117)|microtubule (GO:0005874)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(15)|lung(6)|ovary(2)|urinary_tract(2)	32						ACCCACAGGAGAAAGAGAAGA	0.537																																					GBM(113;146 1575 2722 28670 29921)	ENST00000341179.7																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(15)|lung(6)|ovary(2)|urinary_tract(2)	32						c.(1672-1674)gaG>gaT		dynamin 1							162	125	137					9																	131008675		2203	4300	6503	SO:0001583	missense	1759				receptor-mediated endocytosis	microtubule	GTP binding|GTPase activity	g.chr9:131008675G>T	L07807	CCDS6895.1, CCDS43882.1, CCDS75911.1, CCDS75912.1	9q34	2013-01-10			ENSG00000106976	ENSG00000106976		"Pleckstrin homology (PH) domain containing"	2972	protein-coding gene	gene with protein product		602377		DNM		2144893, 9143509	Standard	XM_005251763		Approved		uc022bob.1	Q05193	OTTHUMG00000020733	ENST00000372923.3:c.1674G>T	9.37:g.131008675G>T	ENSP00000362014:p.Glu558Asp					DNM1_ENST00000486160.1_Missense_Mutation_p.E558D|DNM1_ENST00000493925.1_3'UTR|DNM1_ENST00000393594.3_Missense_Mutation_p.E558D|DNM1_ENST00000372923.3_Missense_Mutation_p.E558D|DNM1_ENST00000475805.1_Missense_Mutation_p.E558D	p.E558D	NM_001005336.1	NP_001005336.1	Q05193	DYN1_HUMAN			16	1766	+			558			PH.		A6NLM6|Q5SYX0|Q5SYX2|Q6P3T6|Q86VD2	Missense_Mutation	SNP	ENST00000372923.3	37	c.1674G>T	CCDS6895.1	.	.	.	.	.	.	.	.	.	.	G	17.33	3.362431	0.61403	.	.	ENSG00000106976	ENST00000475805;ENST00000341179;ENST00000372923;ENST00000393589;ENST00000393594;ENST00000486160;ENST00000543158	D;D;D;D;D	0.95821	-3.82;-3.82;-3.82;-3.82;-3.82	4.61	4.61	0.57282	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.85682	D	0.000000	D	0.95462	0.8526	M	0.80422	2.495	0.80722	D	1	B;B	0.16603	0.018;0.008	B;B	0.24848	0.056;0.033	D	0.94131	0.7388	10	0.59425	D	0.04	-27.1498	17.6167	0.88069	0.0:0.0:1.0:0.0	.	558;558	Q05193;Q05193-3	DYN1_HUMAN;.	D	558;558;558;553;558;558;103	ENSP00000419225:E558D;ENSP00000345680:E558D;ENSP00000362014:E558D;ENSP00000377219:E558D;ENSP00000420045:E558D	ENSP00000345680:E558D	E	+	3	2	DNM1	130048496	1.000000	0.71417	1.000000	0.80357	0.766000	0.43426	5.461000	0.66699	2.379000	0.81126	0.498000	0.49722	GAG		0.537	DNM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000054367.1	NM_004408		10	28	1	0	3.07112e-06	1	3.18879e-06	10	28					T	131008675	G	T	131008675	3	4	435	1	0	0	0	0	1	0	0	0	4670	933	33	5	1731	5	DNM1	9	131008675	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	154431	131008675	10204756	4462	25387											
TRUB2	26995	broad.mit.edu	37	chr9	131073259	131073259	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ccggatcaggcctctcacggCcatctcataggcctcctggg	6	8	11	16	2	3	0	3	0	2	0	6	1	4	1	5	5	0	0	5	5	1	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:131073259C>T	ENST00000372890.4	-	7	910	c.577G>A	c.(577-579)Gcc>Acc	p.A193T	TRUB2_ENST00000546104.1_Missense_Mutation_p.A137T|TRUB2_ENST00000460320.1_5'UTR	NM_015679.1	NP_056494.1	O95900	TRUB2_HUMAN	TruB pseudouridine (psi) synthase family member 2	193					pseudouridine synthesis (GO:0001522)|tRNA processing (GO:0008033)		poly(A) RNA binding (GO:0044822)|pseudouridine synthase activity (GO:0009982)			kidney(2)|large_intestine(2)|lung(3)|ovary(1)	8						CCTCTCACGGCCATCTCATAG	0.582																																						ENST00000372890.4																			0				kidney(2)|large_intestine(2)|lung(3)|ovary(1)	8						c.(577-579)Gcc>Acc		TruB pseudouridine (psi) synthase family member 2							133	125	128					9																	131073259		2203	4300	6503	SO:0001583	missense	26995				pseudouridine synthesis|tRNA processing		pseudouridine synthase activity|RNA binding	g.chr9:131073259C>T	AK001956	CCDS6897.1	9q34.11	2014-01-28	2013-09-02		ENSG00000167112	ENSG00000167112			17170	protein-coding gene	gene with protein product		610727	"TruB pseudouridine (psi) synthase homolog 2 (E. coli)"			12736709	Standard	NM_015679		Approved	CLONE24922	uc004buq.1	O95900	OTTHUMG00000020741	ENST00000372890.4:c.577G>A	9.37:g.131073259C>T	ENSP00000361982:p.Ala193Thr					TRUB2_ENST00000546104.1_Missense_Mutation_p.A137T|TRUB2_ENST00000460320.1_5'UTR	p.A193T	NM_015679.1	NP_056494.1	O95900	TRUB2_HUMAN			7	910	-			193					B7Z7G5	Missense_Mutation	SNP	ENST00000372890.4	37	c.577G>A	CCDS6897.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.178476	0.78564	.	.	ENSG00000167112	ENST00000372890;ENST00000546104	T;T	0.24723	1.84;1.84	5.48	5.48	0.80851	Pseudouridine synthase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.59542	0.2201	M	0.87827	2.91	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.66440	-0.5923	10	0.87932	D	0	-17.3453	19.3281	0.94270	0.0:1.0:0.0:0.0	.	193	O95900	TRUB2_HUMAN	T	193;137	ENSP00000361982:A193T;ENSP00000438084:A137T	ENSP00000361982:A193T	A	-	1	0	TRUB2	130113080	1.000000	0.71417	0.998000	0.56505	0.095000	0.18619	6.627000	0.74258	2.558000	0.86282	0.561000	0.74099	GCC		0.582	TRUB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054419.1	NM_015679		28	52	0	0	0	1	0	28	52					T	131073259	C	T	131073259	3	4	435	1	0	0	0	0	1	0	0	0	16600	739	26	3	426	3	TRUB2	9	131073259	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	64584	131073259	10140172	4463	25388											
CERCAM	51148	broad.mit.edu	37	chr9	131191242	131191242	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctggctcgcaggcctgacCgtcgggaacgcatgctcgcc	5	6	14	16	5	0	1	0	1	0	0	3	2	0	2	4	3	2	4	4	3	1	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:131191242C>T	ENST00000372838.4	+	8	1395	c.997C>T	c.(997-999)Cgt>Tgt	p.R333C	CERCAM_ENST00000372842.1_Missense_Mutation_p.R255C|RP11-339B21.10_ENST00000610052.1_RNA	NM_016174.4	NP_057258.3	Q5T4B2	GT253_HUMAN	cerebral endothelial cell adhesion molecule	333					cell adhesion (GO:0007155)|cellular component movement (GO:0006928)|leukocyte cell-cell adhesion (GO:0007159)|lipopolysaccharide biosynthetic process (GO:0009103)	endoplasmic reticulum (GO:0005783)|plasma membrane (GO:0005886)				endometrium(2)|kidney(4)|large_intestine(2)|lung(9)|ovary(1)|pancreas(2)	20						CAGGCCTGACCGTCGGGAACG	0.667																																						ENST00000372842.1																			0				endometrium(2)|kidney(4)|large_intestine(2)|lung(9)|ovary(1)|pancreas(2)	20						c.(763-765)Cgt>Tgt		cerebral endothelial cell adhesion molecule							43	30	34					9																	131191242		2203	4300	6503	SO:0001583	missense	51148				cellular component movement|leukocyte cell-cell adhesion|lipopolysaccharide biosynthetic process	endoplasmic reticulum lumen|plasma membrane		g.chr9:131191242C>T	AB040935	CCDS6901.2, CCDS69675.1	9q34.13	2008-02-05	2007-10-17	2007-10-17	ENSG00000167123	ENSG00000167123			23723	protein-coding gene	gene with protein product	"glycosyltransferase 25 domain containing 3"		"cerebral cell adhesion molecule"	CEECAM1		10608765	Standard	NM_016174		Approved	GLT25D3, CerCAM	uc004buz.4	Q5T4B2	OTTHUMG00000020747	ENST00000372838.4:c.997C>T	9.37:g.131191242C>T	ENSP00000361929:p.Arg333Cys					CERCAM_ENST00000372838.4_Missense_Mutation_p.R333C	p.R255C			Q5T4B2	GT253_HUMAN			9	3907	+			333					A7MD00|C4AMA2|Q0VDF3|Q2VPJ4|Q4KMP2|Q5T4B1|Q8N107|Q96EZ5|Q9P226|Q9UMW5	Missense_Mutation	SNP	ENST00000372838.4	37	c.763C>T	CCDS6901.2	.	.	.	.	.	.	.	.	.	.	C	22.6	4.314602	0.81358	.	.	ENSG00000167123	ENST00000372842;ENST00000372838;ENST00000413863	D;D	0.90563	-2.61;-2.69	5.39	4.48	0.54585	.	0.122861	0.53938	D	0.000057	D	0.96343	0.8807	M	0.93854	3.465	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97070	0.9777	10	0.87932	D	0	-2.4505	14.1548	0.65410	0.1513:0.8487:0.0:0.0	.	333	Q5T4B2	GT253_HUMAN	C	255;333;286	ENSP00000361933:R255C;ENSP00000361929:R333C	ENSP00000361929:R333C	R	+	1	0	CERCAM	130231063	1.000000	0.71417	0.775000	0.31657	0.121000	0.20230	3.154000	0.50693	1.231000	0.43661	0.557000	0.71058	CGT		0.667	CERCAM-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054435.2	NM_016174		4	5	0	0	0	1	0	4	5					T	131191242	C	T	131191242	3	4	435	1	0	0	0	0	1	0	0	0	3266	652	23	2	1027	2	CERCAM	9	131191242	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	117983	131191242	10022189	4464	25389											
GLE1	2733	broad.mit.edu	37	chr9	131267153	131267153	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tccgacaaaggtcgcctttgCtactaccgcgactggctgct	7	10	10	14	4	0	0	0	0	0	0	2	2	1	0	3	2	4	3	3	2	3	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:131267153C>T	ENST00000309971.4	+	1	175	c.69C>T	c.(67-69)tgC>tgT	p.C23C	GLE1_ENST00000372770.4_Silent_p.C23C|GLE1_ENST00000539582.1_5'UTR	NM_001003722.1	NP_001003722.1	Q53GS7	GLE1_HUMAN	GLE1 RNA export mediator	23	Interaction with NUP155.				mRNA export from nucleus (GO:0006406)|poly(A)+ mRNA export from nucleus (GO:0016973)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|membrane (GO:0016020)|nuclear pore (GO:0005643)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|skin(2)|upper_aerodigestive_tract(1)	16						GTCGCCTTTGCTACTACCGCG	0.657																																						ENST00000309971.4																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|skin(2)|upper_aerodigestive_tract(1)	16						c.(67-69)tgC>tgT		GLE1 RNA export mediator							60	56	57					9																	131267153		2203	4300	6503	SO:0001819	synonymous_variant	2733				poly(A)+ mRNA export from nucleus|protein transport|transmembrane transport	cytoplasm|nuclear pore	protein binding	g.chr9:131267153C>T	AF058922	CCDS6904.1, CCDS35154.1	9q34.13	2014-09-17	2013-06-18	2007-10-04	ENSG00000119392	ENSG00000119392			4315	protein-coding gene	gene with protein product		603371	"GLE1 (yeast homolog)-like, RNA export mediator", "GLE1 RNA export mediator-like (yeast)", "GLE1 RNA export mediator (yeast)", "lethal congenital contracture syndrome 1", "GLE1 RNA export mediator homolog (yeast)"	GLE1L, LCCS1		9618489, 18204449	Standard	NM_001499		Approved	hGLE1	uc004bvj.3	Q53GS7	OTTHUMG00000020749	ENST00000309971.4:c.69C>T	9.37:g.131267153C>T						GLE1_ENST00000372770.4_Silent_p.C23C|GLE1_ENST00000539582.1_5'UTR	p.C23C	NM_001003722.1	NP_001003722.1	Q53GS7	GLE1_HUMAN			1	175	+			23			Interaction with NUP155.		O75458|Q53GT9|Q5VVU1|Q8NCP6|Q9UFL6	Silent	SNP	ENST00000309971.4	37	c.69C>T	CCDS35154.1																																																																																				0.657	GLE1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054456.1	NM_001003722		20	33	0	0	0	1	0	20	33					T	131267153	C	T	131267153	2	4	435	1	0	0	0	0	0	0	0	1	6435	805	28	3		3	GLE1	9	131267153	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	75911	131267153	9946278	4465	25390											
SPTAN1	6709	broad.mit.edu	37	chr9	131394422	131394422	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagcgcaagcaccaggaaaTccgagccatgagaagtcagc	14	3	12	12	2	1	1	1	1	0	1	2	4	2	2	3	1	4	3	3	1	3	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:131394422T>G	ENST00000372731.4	+	52	6874	c.6764T>G	c.(6763-6765)aTc>aGc	p.I2255S	SPTAN1_ENST00000372739.3_Missense_Mutation_p.I2260S|WDR34_ENST00000483181.1_5'Flank|SPTAN1_ENST00000358161.5_Missense_Mutation_p.I2260S	NM_001195532.1|NM_003127.3	NP_001182461.1|NP_003118.2	Q13813	SPTN1_HUMAN	spectrin, alpha, non-erythrocytic 1	2255					actin filament capping (GO:0051693)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)	cuticular plate (GO:0032437)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intracellular membrane-bounded organelle (GO:0043231)|lateral plasma membrane (GO:0016328)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|spectrin (GO:0008091)|vesicle (GO:0031982)|Z disc (GO:0030018)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						CACCAGGAAATCCGAGCCATG	0.617																																					NSCLC(120;833 1744 2558 35612 37579)	ENST00000372739.3																			0				NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						c.(6778-6780)aTc>aGc		spectrin, alpha, non-erythrocytic 1							28	28	28					9																	131394422		2203	4300	6503	SO:0001583	missense	6709				actin filament capping|axon guidance|cellular component disassembly involved in apoptosis	cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin	actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton	g.chr9:131394422T>G	M19725	CCDS6905.1, CCDS48036.1, CCDS75914.1	9q34.11	2013-01-10	2012-06-15		ENSG00000197694	ENSG00000197694		"EF-hand domain containing"	11273	protein-coding gene	gene with protein product	"alpha-fodrin"	182810				3336352	Standard	NM_003127		Approved		uc004bvm.4	Q13813	OTTHUMG00000020754	ENST00000372731.4:c.6764T>G	9.37:g.131394422T>G	ENSP00000361816:p.Ile2255Ser					SPTAN1_ENST00000358161.5_Missense_Mutation_p.I2260S|SPTAN1_ENST00000372731.4_Missense_Mutation_p.I2255S	p.I2260S	NM_001130438.2	NP_001123910.1	Q13813	SPTA2_HUMAN			53	6889	+			2255					Q13186|Q15324|Q16606|Q59EF1|Q5VXV5|Q5VXV6|Q7Z6M5|Q9P0V0	Missense_Mutation	SNP	ENST00000372731.4	37	c.6779T>G	CCDS6905.1	.	.	.	.	.	.	.	.	.	.	T	23.1	4.375557	0.82682	.	.	ENSG00000197694	ENST00000358161;ENST00000372731;ENST00000372739;ENST00000372719	T;T;T	0.57907	0.37;0.37;0.37	5.36	5.36	0.76844	.	0.000000	0.85682	D	0.000000	T	0.71358	0.3330	M	0.77313	2.365	0.80722	D	1	D;D;D	0.69078	0.997;0.96;0.979	D;D;P	0.64237	0.911;0.923;0.906	T	0.76228	-0.3036	10	0.87932	D	0	.	15.3351	0.74247	0.0:0.0:0.0:1.0	.	2235;2260;2255	Q13813-3;Q13813-2;Q13813	.;.;SPTA2_HUMAN	S	2260;2255;2260;2235	ENSP00000350882:I2260S;ENSP00000361816:I2255S;ENSP00000361824:I2260S	ENSP00000350882:I2260S	I	+	2	0	SPTAN1	130434243	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.689000	0.84165	2.021000	0.59480	0.459000	0.35465	ATC		0.617	SPTAN1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054472.1	NM_003127		6	12	0	0	0	1	0	6	12					G	131394422	T	G	131394422	3	3	435	1	0	0	0	0	1	0	0	0	15116	1435	50	5	6985	5	SPTAN1	9	131394422	Missense_Mutation	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	127269	131394422	9819009	4466	25391											
PKN3	29941	broad.mit.edu	37	chr9	131476599	131476599	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cccccctaaaggatgccctcGgaccccaacaacactgcgag	11	4	8	18	2	0	0	0	0	0	0	1	3	0	2	6	2	4	0	6	2	4	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:131476599G>A	ENST00000291906.4	+	11	1829	c.1436G>A	c.(1435-1437)cGg>cAg	p.R479Q		NM_013355.3	NP_037487.2	Q6P5Z2	PKN3_HUMAN	protein kinase N3	479	Pro-rich.				epithelial cell migration (GO:0010631)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	24						GGATGCCCTCGGACCCCAACA	0.652																																						ENST00000291906.4																			0				breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	24						c.(1435-1437)cGg>cAg		protein kinase N3							58	64	62					9																	131476599		2203	4300	6503	SO:0001583	missense	29941				signal transduction	Golgi apparatus|nucleus|perinuclear region of cytoplasm	ATP binding|protein binding|protein kinase C activity	g.chr9:131476599G>A	AB019692	CCDS6908.1	9q34.13	2008-02-05			ENSG00000160447	ENSG00000160447			17999	protein-coding gene	gene with protein product		610714				10441506	Standard	NM_013355		Approved	PKNbeta	uc004bvw.3	Q6P5Z2	OTTHUMG00000020757	ENST00000291906.4:c.1436G>A	9.37:g.131476599G>A	ENSP00000291906:p.Arg479Gln						p.R479Q	NM_013355.3	NP_037487.2	Q6P5Z2	PKN3_HUMAN			11	1829	+			479			Pro-rich.		Q9UM03	Missense_Mutation	SNP	ENST00000291906.4	37	c.1436G>A	CCDS6908.1	.	.	.	.	.	.	.	.	.	.	G	10.41	1.342086	0.24339	.	.	ENSG00000160447	ENST00000291906	T	0.28895	1.59	4.05	-0.81	0.10860	.	.	.	.	.	T	0.08179	0.0204	N	0.00926	-1.1	0.18873	N	0.999982	B	0.02656	0.0	B	0.01281	0.0	T	0.39251	-0.9623	9	0.09338	T	0.73	.	7.161	0.25664	0.4915:0.0:0.5085:0.0	.	479	Q6P5Z2	PKN3_HUMAN	Q	479	ENSP00000291906:R479Q	ENSP00000291906:R479Q	R	+	2	0	PKN3	130516420	0.003000	0.15002	0.183000	0.23137	0.464000	0.32679	-0.104000	0.10923	-0.045000	0.13468	-0.471000	0.05019	CGG		0.652	PKN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054487.1	NM_013355		28	59	0	0	0	1	0	28	59					A	131476599	G	A	131476599	3	1	435	1	0	0	0	0	1	0	0	0	11981	1116	39	2	1478	2	PKN3	9	131476599	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	82177	131476599	9736832	4467	25392											
PKN3	29941	broad.mit.edu	37	chr9	131482247	131482247	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctgcatcgtcaacatggacgCcccctaccccggctttctgt	6	10	8	17	3	2	0	1	0	1	0	3	1	2	1	4	2	3	2	4	2	2	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:131482247C>T	ENST00000291906.4	+	20	2720	c.2327C>T	c.(2326-2328)gCc>gTc	p.A776V	PKN3_ENST00000485301.1_3'UTR|ZDHHC12_ENST00000467312.1_5'Flank	NM_013355.3	NP_037487.2	Q6P5Z2	PKN3_HUMAN	protein kinase N3	776	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				epithelial cell migration (GO:0010631)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	24						AACATGGACGCCCCCTACCCC	0.627																																						ENST00000291906.4																			0				breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	24						c.(2326-2328)gCc>gTc		protein kinase N3							95	104	101					9																	131482247		2203	4300	6503	SO:0001583	missense	29941				signal transduction	Golgi apparatus|nucleus|perinuclear region of cytoplasm	ATP binding|protein binding|protein kinase C activity	g.chr9:131482247C>T	AB019692	CCDS6908.1	9q34.13	2008-02-05			ENSG00000160447	ENSG00000160447			17999	protein-coding gene	gene with protein product		610714				10441506	Standard	NM_013355		Approved	PKNbeta	uc004bvw.3	Q6P5Z2	OTTHUMG00000020757	ENST00000291906.4:c.2327C>T	9.37:g.131482247C>T	ENSP00000291906:p.Ala776Val					PKN3_ENST00000485301.1_3'UTR	p.A776V	NM_013355.3	NP_037487.2	Q6P5Z2	PKN3_HUMAN			20	2720	+			776			Protein kinase.		Q9UM03	Missense_Mutation	SNP	ENST00000291906.4	37	c.2327C>T	CCDS6908.1	.	.	.	.	.	.	.	.	.	.	C	0.067	-1.211519	0.01555	.	.	ENSG00000160447	ENST00000291906	T	0.63744	-0.06	5.35	3.48	0.39840	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	.	.	.	.	T	0.22898	0.0553	N	0.00554	-1.385	0.25910	N	0.983245	B	0.10296	0.003	B	0.14578	0.011	T	0.31475	-0.9942	9	0.02654	T	1	.	6.8293	0.23900	0.0:0.708:0.0:0.292	.	776	Q6P5Z2	PKN3_HUMAN	V	776	ENSP00000291906:A776V	ENSP00000291906:A776V	A	+	2	0	PKN3	130522068	0.957000	0.32711	0.063000	0.19743	0.014000	0.08584	1.754000	0.38369	0.619000	0.30197	0.462000	0.41574	GCC		0.627	PKN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054487.1	NM_013355		41	46	0	0	0	1	0	41	46					T	131482247	C	T	131482247	3	4	435	1	0	0	0	0	1	0	0	0	11981	739	26	3	2405	3	PKN3	9	131482247	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	5648	131482247	9731184	4468	25393											
PKN3	29941	broad.mit.edu	37	chr9	131482744	131482744	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctaccctgtgtggccctgcGgacctgcgctactttgaggg	4	10	13	14	2	0	1	0	1	0	0	0	2	0	2	4	3	4	1	4	3	2	3	rs141598296		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:131482744G>A	ENST00000291906.4	+	22	2922	c.2529G>A	c.(2527-2529)gcG>gcA	p.A843A	ZDHHC12_ENST00000467312.1_5'Flank	NM_013355.3	NP_037487.2	Q6P5Z2	PKN3_HUMAN	protein kinase N3	843	AGC-kinase C-terminal.				epithelial cell migration (GO:0010631)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	24						GTGGCCCTGCGGACCTGCGCT	0.687																																						ENST00000291906.4																			0				breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	24						c.(2527-2529)gcG>gcA		protein kinase N3		G		0,4406		0,0,2203	84	87	86		2529	-6.3	0.8	9	dbSNP_134	86	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	PKN3	NM_013355.3		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		843/890	131482744	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	29941				signal transduction	Golgi apparatus|nucleus|perinuclear region of cytoplasm	ATP binding|protein binding|protein kinase C activity	g.chr9:131482744G>A	AB019692	CCDS6908.1	9q34.13	2008-02-05			ENSG00000160447	ENSG00000160447			17999	protein-coding gene	gene with protein product		610714				10441506	Standard	NM_013355		Approved	PKNbeta	uc004bvw.3	Q6P5Z2	OTTHUMG00000020757	ENST00000291906.4:c.2529G>A	9.37:g.131482744G>A							p.A843A	NM_013355.3	NP_037487.2	Q6P5Z2	PKN3_HUMAN			22	2922	+			843			AGC-kinase C-terminal.		Q9UM03	Silent	SNP	ENST00000291906.4	37	c.2529G>A	CCDS6908.1																																																																																				0.687	PKN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054487.1	NM_013355		30	44	0	0	0	1	0	30	44					A	131482744	G	A	131482744	2	1	435	1	0	0	0	0	0	0	0	1	11981	1103	39	2		2	PKN3	9	131482744	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	497	131482744	9730687	4469	25394											
ZER1	10444	broad.mit.edu	37	chr9	131505018	131505018	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gagcgtcaggcagcagttccGctgcacctgggccgggacag	7	5	16	13	3	1	0	1	0	0	0	2	2	2	1	3	3	3	5	3	3	0	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:131505018G>A	ENST00000291900.2	-	9	1772	c.1366C>T	c.(1366-1368)Cgg>Tgg	p.R456W		NM_006336.2	NP_006327.2	Q7Z7L7	ZER1_HUMAN	zyg-11 related, cell cycle regulator	456					protein ubiquitination (GO:0016567)|regulation of ubiquitin-protein transferase activity (GO:0051438)	Cul2-RING ubiquitin ligase complex (GO:0031462)	ubiquitin-protein transferase activity (GO:0004842)			endometrium(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	15						CAGCAGTTCCGCTGCACCTGG	0.592																																						ENST00000291900.2																			0				endometrium(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	15						c.(1366-1368)Cgg>Tgg		zyg-11 related, cell cycle regulator							27	23	24					9																	131505018		2203	4300	6503	SO:0001583	missense	10444				ATP hydrolysis coupled proton transport|regulation of ubiquitin-protein ligase activity	Cul2-RING ubiquitin ligase complex|vacuolar proton-transporting V-type ATPase, V1 domain	protein binding|proton-transporting ATPase activity, rotational mechanism|ubiquitin-protein ligase activity	g.chr9:131505018G>A	X99802	CCDS6910.1	9q33.3	2013-01-17	2012-12-10	2007-01-04	ENSG00000160445	ENSG00000160445		"ZYG11 cell cycle regulator family"	30960	protein-coding gene	gene with protein product			"chromosome 9 open reading frame 60", "zyg-11 homolog B (C. elegans)-like", "zer-1 homolog (C. elegans)"	C9orf60, ZYG11BL		11719588	Standard	NM_006336		Approved	ZYG, Hzyg	uc004bwa.2	Q7Z7L7	OTTHUMG00000020759	ENST00000291900.2:c.1366C>T	9.37:g.131505018G>A	ENSP00000291900:p.Arg456Trp						p.R456W	NM_006336.2	NP_006327.2	Q7Z7L7	ZER1_HUMAN			9	1772	-			456					O00156|Q5T272|Q5T273	Missense_Mutation	SNP	ENST00000291900.2	37	c.1366C>T	CCDS6910.1	.	.	.	.	.	.	.	.	.	.	G	19.41	3.821835	0.71028	.	.	ENSG00000160445	ENST00000291900	T	0.08008	3.14	5.71	3.84	0.44239	Armadillo-like helical (1);Armadillo-type fold (1);	0.054462	0.64402	D	0.000001	T	0.27169	0.0666	M	0.72118	2.19	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.01036	-1.1473	10	0.87932	D	0	-36.021	13.3088	0.60368	0.0:0.0:0.5869:0.4131	.	456	Q7Z7L7	ZER1_HUMAN	W	456	ENSP00000291900:R456W	ENSP00000291900:R456W	R	-	1	2	ZER1	130544839	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	3.809000	0.55606	0.722000	0.32252	-0.169000	0.13324	CGG		0.592	ZER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054491.1	NM_006336		4	7	0	0	0	1	0	4	7					A	131505018	G	A	131505018	3	1	435	1	0	0	0	0	1	0	0	0	17622	1086	38	1	966	1	ZER1	9	131505018	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	22274	131505018	9708413	4470	25395											
LRRC8A	56262	broad.mit.edu	37	chr9	131671496	131671496	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccacccagctcttctactgcCgcaagctgcgctacctggac	7	8	8	18	2	2	0	0	0	2	0	2	1	2	1	4	1	6	4	4	1	3	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:131671496C>T	ENST00000259324.5	+	3	2576	c.2053C>T	c.(2053-2055)Cgc>Tgc	p.R685C	LRRC8A_ENST00000372599.3_Missense_Mutation_p.R685C|LRRC8A_ENST00000372600.4_Missense_Mutation_p.R685C	NM_001127244.1	NP_001120716.1	Q8IWT6	LRC8A_HUMAN	leucine rich repeat containing 8 family, member A	685					anion transport (GO:0006820)|cell volume homeostasis (GO:0006884)|pre-B cell differentiation (GO:0002329)|response to osmotic stress (GO:0006970)	cell surface (GO:0009986)|ion channel complex (GO:0034702)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(3)	28						CTTCTACTGCCGCAAGCTGCG	0.597																																						ENST00000259324.5																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(3)	28						c.(2053-2055)Cgc>Tgc		leucine rich repeat containing 8 family, member A							107	103	105					9																	131671496		2203	4300	6503	SO:0001583	missense	56262				pre-B cell differentiation	integral to membrane		g.chr9:131671496C>T	AB037858	CCDS35155.1	9q34.2	2014-09-17	2005-06-29	2005-06-29	ENSG00000136802	ENSG00000136802			19027	protein-coding gene	gene with protein product		608360	"leucine rich repeat containing 8"	LRRC8			Standard	NM_001127244		Approved	KIAA1437, FLJ10337	uc010myp.3	Q8IWT6	OTTHUMG00000020766	ENST00000259324.5:c.2053C>T	9.37:g.131671496C>T	ENSP00000259324:p.Arg685Cys					LRRC8A_ENST00000372600.4_Missense_Mutation_p.R685C|LRRC8A_ENST00000372599.3_Missense_Mutation_p.R685C	p.R685C	NM_001127244.1	NP_001120716.1	Q8IWT6	LRC8A_HUMAN			3	2576	+			685					Q6UXM2|Q8NCI0|Q9P2B1	Missense_Mutation	SNP	ENST00000259324.5	37	c.2053C>T	CCDS35155.1	.	.	.	.	.	.	.	.	.	.	C	10.65	1.411232	0.25465	.	.	ENSG00000136802	ENST00000372600;ENST00000372599;ENST00000259324	T;T;T	0.10477	2.87;2.87;2.87	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	T	0.26774	0.0655	L	0.50919	1.6	0.80722	D	1	D	0.89917	1.0	D	0.69479	0.964	T	0.00086	-1.2096	10	0.49607	T	0.09	.	15.2417	0.73476	0.1407:0.8593:0.0:0.0	.	685	Q8IWT6	LRC8A_HUMAN	C	685	ENSP00000361682:R685C;ENSP00000361680:R685C;ENSP00000259324:R685C	ENSP00000259324:R685C	R	+	1	0	LRRC8A	130711317	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.860000	0.55995	2.677000	0.91161	0.561000	0.74099	CGC		0.597	LRRC8A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054516.2	NM_019594		5	25	0	0	0	1	0	5	25					T	131671496	C	T	131671496	3	4	435	1	0	0	0	0	1	0	0	0	9021	652	23	2	2055	2	LRRC8A	9	131671496	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	166478	131671496	9541935	4471	25396											
SH3GLB2	56904	broad.mit.edu	37	chr9	131777084	131777084	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agtccccctccaggaagttgCgcaagggtgtgaggaagctg	9	7	15	10	1	0	1	0	1	0	0	2	3	2	3	3	3	2	3	3	3	3	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:131777084C>T	ENST00000372564.3	-	4	579	c.434G>A	c.(433-435)cGc>cAc	p.R145H	SH3GLB2_ENST00000372554.4_Missense_Mutation_p.R145H|SH3GLB2_ENST00000417224.1_Missense_Mutation_p.R145H|SH3GLB2_ENST00000372559.1_Missense_Mutation_p.R145H|SH3GLB2_ENST00000416629.1_Missense_Mutation_p.R145H	NM_020145.2	NP_064530.1	Q9NR46	SHLB2_HUMAN	SH3-domain GRB2-like endophilin B2	145	BAR. {ECO:0000255|PROSITE- ProRule:PRU00361}.					cytoplasm (GO:0005737)				NS(1)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(1)|prostate(1)	12						CAGGAAGTTGCGCAAGGGTGT	0.572																																						ENST00000372564.3																			0				NS(1)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(1)|prostate(1)	12						c.(433-435)cGc>cAc		SH3-domain GRB2-like endophilin B2							101	104	103					9																	131777084		2203	4300	6503	SO:0001583	missense	56904				filopodium assembly|signal transduction	cytoplasm|nucleus	cytoskeletal adaptor activity|SH3 domain binding	g.chr9:131777084C>T	AF257319	CCDS6916.1, CCDS69680.1	9q34	2008-02-05	2001-12-04		ENSG00000148341	ENSG00000148341			10834	protein-coding gene	gene with protein product		609288	"SH3-domain, GRB2-like, endophilin B2"			11161816	Standard	NM_020145		Approved	KIAA1848	uc004bwv.3	Q9NR46	OTTHUMG00000020769	ENST00000372564.3:c.434G>A	9.37:g.131777084C>T	ENSP00000361645:p.Arg145His					SH3GLB2_ENST00000372554.4_Missense_Mutation_p.R145H|SH3GLB2_ENST00000416629.1_Missense_Mutation_p.R145H|SH3GLB2_ENST00000417224.1_Missense_Mutation_p.R145H|SH3GLB2_ENST00000372559.1_Missense_Mutation_p.R145H	p.R145H	NM_020145.2	NP_064530.1	Q9NR46	SHLB2_HUMAN			4	579	-			145			BAR.		A6NC47|A8MPS4|Q8WY61|Q96JH9	Missense_Mutation	SNP	ENST00000372564.3	37	c.434G>A	CCDS6916.1	.	.	.	.	.	.	.	.	.	.	C	36	5.660689	0.96734	.	.	ENSG00000148341	ENST00000372564;ENST00000372559;ENST00000543311;ENST00000372554;ENST00000417224;ENST00000416629	T;T;T;T;T	0.65364	-0.15;-0.15;-0.15;-0.15;-0.15	5.57	5.57	0.84162	BAR (3);IRSp53/MIM homology domain (IMD) (1);	0.000000	0.85682	D	0.000000	T	0.79953	0.4535	M	0.77313	2.365	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.99	T	0.77070	-0.2724	10	0.33940	T	0.23	-1.1613	18.8971	0.92427	0.0:1.0:0.0:0.0	.	145;145	Q9NR46-2;Q9NR46	.;SHLB2_HUMAN	H	145	ENSP00000361645:R145H;ENSP00000361640:R145H;ENSP00000361634:R145H;ENSP00000402566:R145H;ENSP00000388282:R145H	ENSP00000361634:R145H	R	-	2	0	SH3GLB2	130816905	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	7.499000	0.81566	2.785000	0.95823	0.655000	0.94253	CGC		0.572	SH3GLB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054535.2			31	60	0	0	0	1	0	31	60					T	131777084	C	T	131777084	3	4	435	1	0	0	0	0	1	0	0	0	14254	768	27	1	785	1	SH3GLB2	9	131777084	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	105588	131777084	9436347	4472	25397											
CRAT	1384	broad.mit.edu	37	chr9	131862813	131862813	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagcgtcttgtcgaaccagcGgttgccgctgttgagcctgc	5	10	13	13	4	1	1	0	1	1	0	2	2	1	1	3	1	6	3	3	1	1	3	rs369950286		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:131862813G>A	ENST00000318080.2	-	7	1255	c.961C>T	c.(961-963)Cgc>Tgc	p.R321C	CRAT_ENST00000464290.1_5'Flank|RP11-247A12.1_ENST00000434250.1_RNA	NM_000755.3|NM_001257363.1	NP_000746|NP_001244292.1	P43155	CACP_HUMAN	carnitine O-acetyltransferase	321					carnitine metabolic process, CoA-linked (GO:0019254)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	endoplasmic reticulum (GO:0005783)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	carnitine O-acetyltransferase activity (GO:0004092)|receptor binding (GO:0005102)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(4)|skin(1)|urinary_tract(2)	13				UCEC - Uterine corpus endometrioid carcinoma (4;0.0178)	L-Carnitine(DB00583)	TCGAACCAGCGGTTGCCGCTG	0.652																																						ENST00000318080.2																			0				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(4)|skin(1)|urinary_tract(2)	13						c.(961-963)Cgc>Tgc		carnitine O-acetyltransferase	L-Carnitine(DB00583)	G	CYS/ARG	0,4406		0,0,2203	69	62	64		961	5.5	1	9		64	1,8599	1.2+/-3.3	0,1,4299	no	missense	CRAT	NM_000755.3	180	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	321/627	131862813	1,13005	2203	4300	6503	SO:0001583	missense	1384				energy derivation by oxidation of organic compounds|fatty acid beta-oxidation using acyl-CoA oxidase|transport	endoplasmic reticulum|mitochondrial inner membrane|peroxisomal matrix	carnitine O-acetyltransferase activity	g.chr9:131862813G>A	X78706	CCDS6919.1	9q34.1	2010-04-27	2010-04-27		ENSG00000095321	ENSG00000095321	2.3.1.7		2342	protein-coding gene	gene with protein product		600184	"carnitine acetyltransferase"			7829107	Standard	NM_000755		Approved	CAT1	uc004bxh.3	P43155	OTTHUMG00000147343	ENST00000318080.2:c.961C>T	9.37:g.131862813G>A	ENSP00000315013:p.Arg321Cys						p.R321C	NM_000755.3|NM_001257363.1	NP_000746.2|NP_001244292.1	P43155	CACP_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;0.0178)	7	1255	-			321					Q5T952|Q9BW16	Missense_Mutation	SNP	ENST00000318080.2	37	c.961C>T	CCDS6919.1	.	.	.	.	.	.	.	.	.	.	G	26.3	4.720050	0.89205	0.0	1.16E-4	ENSG00000095321	ENST00000318080	T	0.69685	-0.42	5.54	5.54	0.83059	.	0.050496	0.85682	D	0.000000	D	0.85358	0.5678	M	0.93197	3.39	0.80722	D	1	D	0.89917	1.0	D	0.74674	0.984	D	0.88598	0.3148	10	0.87932	D	0	-25.6742	13.4364	0.61086	0.0:0.0:0.8433:0.1567	.	321	P43155	CACP_HUMAN	C	321	ENSP00000315013:R321C	ENSP00000315013:R321C	R	-	1	0	CRAT	130902634	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.441000	0.73439	2.597000	0.87782	0.555000	0.69702	CGC		0.652	CRAT-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253700.1			13	20	0	0	0	1	0	13	20					A	131862813	G	A	131862813	3	1	435	1	0	0	0	0	1	0	0	0	3847	1116	39	2	951	2	CRAT	9	131862813	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	85729	131862813	9350618	4473	25398											
CRAT	1384	broad.mit.edu	37	chr9	131864769	131864769	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tgcttggggcccggcactcgGcaggaggacaagatctgata	9	7	15	10	2	1	2	0	1	1	1	2	4	1	4	1	6	1	3	1	6	2	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:131864769G>A	ENST00000318080.2	-	5	834	c.540C>T	c.(538-540)tgC>tgT	p.C180C	CRAT_ENST00000464290.1_5'UTR|RP11-247A12.1_ENST00000434250.1_RNA	NM_000755.3|NM_001257363.1	NP_000746|NP_001244292.1	P43155	CACP_HUMAN	carnitine O-acetyltransferase	180					carnitine metabolic process, CoA-linked (GO:0019254)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	endoplasmic reticulum (GO:0005783)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	carnitine O-acetyltransferase activity (GO:0004092)|receptor binding (GO:0005102)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(4)|skin(1)|urinary_tract(2)	13				UCEC - Uterine corpus endometrioid carcinoma (4;0.0178)	L-Carnitine(DB00583)	CCGGCACTCGGCAGGAGGACA	0.607																																						ENST00000318080.2																			0				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(4)|skin(1)|urinary_tract(2)	13						c.(538-540)tgC>tgT		carnitine O-acetyltransferase	L-Carnitine(DB00583)						236	222	227					9																	131864769		2203	4300	6503	SO:0001819	synonymous_variant	1384				energy derivation by oxidation of organic compounds|fatty acid beta-oxidation using acyl-CoA oxidase|transport	endoplasmic reticulum|mitochondrial inner membrane|peroxisomal matrix	carnitine O-acetyltransferase activity	g.chr9:131864769G>A	X78706	CCDS6919.1	9q34.1	2010-04-27	2010-04-27		ENSG00000095321	ENSG00000095321	2.3.1.7		2342	protein-coding gene	gene with protein product		600184	"carnitine acetyltransferase"			7829107	Standard	NM_000755		Approved	CAT1	uc004bxh.3	P43155	OTTHUMG00000147343	ENST00000318080.2:c.540C>T	9.37:g.131864769G>A						CRAT_ENST00000464290.1_5'UTR	p.C180C	NM_000755.3|NM_001257363.1	NP_000746.2|NP_001244292.1	P43155	CACP_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;0.0178)	5	834	-			180					Q5T952|Q9BW16	Silent	SNP	ENST00000318080.2	37	c.540C>T	CCDS6919.1																																																																																				0.607	CRAT-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253700.1			8	194	0	0	0	1	0	8	194					A	131864769	G	A	131864769	2	1	435	1	0	0	0	0	0	0	0	1	3847	1195	42	3		3	CRAT	9	131864769	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	1956	131864769	9348662	4474	25399											
ASB6	140459	broad.mit.edu	37	chr9	132400656	132400656	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgggcctcctctttgtcccCtcccacggtctcaccaagca	5	10	7	19	1	2	0	1	0	2	0	6	0	5	0	6	2	1	1	6	2	1	1	rs374520063		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:132400656C>A	ENST00000277458.4	-	6	844	c.679G>T	c.(679-681)Ggg>Tgg	p.G227W	ASB6_ENST00000277459.4_Missense_Mutation_p.E190D|RP11-483H20.4_ENST00000455074.1_RNA|ASB6_ENST00000450050.2_Missense_Mutation_p.G148W	NM_017873.3	NP_060343.1	Q9NWX5	ASB6_HUMAN	ankyrin repeat and SOCS box containing 6	227					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)				NS(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)	15		Ovarian(14;0.00556)				TCTTTGTCCCCTCCCACGGTC	0.597																																						ENST00000277458.4																			0				NS(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)	15						c.(679-681)Ggg>Tgg		ankyrin repeat and SOCS box containing 6							70	75	74					9																	132400656		2203	4300	6503	SO:0001583	missense	140459				intracellular signal transduction	cytoplasm		g.chr9:132400656C>A		CCDS6924.1, CCDS6925.1, CCDS75919.1	9q34.13	2013-01-10	2011-01-25		ENSG00000148331	ENSG00000148331		"Ankyrin repeat domain containing"	17181	protein-coding gene	gene with protein product		615051	"ankyrin repeat and SOCS box-containing 6"				Standard	NM_017873		Approved		uc004byf.2	Q9NWX5	OTTHUMG00000020787	ENST00000277458.4:c.679G>T	9.37:g.132400656C>A	ENSP00000277458:p.Gly227Trp					ASB6_ENST00000450050.2_Missense_Mutation_p.G148W|ASB6_ENST00000277459.4_Missense_Mutation_p.E190D	p.G227W	NM_017873.3	NP_060343.1	Q9NWX5	ASB6_HUMAN			6	844	-		Ovarian(14;0.00556)	227					Q5SZB7|Q9BV15	Missense_Mutation	SNP	ENST00000277458.4	37	c.679G>T	CCDS6924.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.11|18.11	3.549972|3.549972	0.65311|0.65311	.|.	.|.	ENSG00000148331|ENSG00000148331	ENST00000277459|ENST00000277458;ENST00000450050	T|T;T	0.58358|0.71579	0.34|-0.58;0.73	4.45|4.45	4.45|4.45	0.53987|0.53987	.|Ankyrin repeat-containing domain (2);	.|0.244160	.|0.40818	.|N	.|0.001016	T|T	0.75459|0.75459	0.3852|0.3852	.|.	.|.	.|.	0.37383|0.37383	D|D	0.912104|0.912104	B|D;D;D	0.30973|0.58620	0.302|0.983;0.983;0.983	B|P;P;P	0.29785|0.53006	0.107|0.715;0.715;0.715	T|T	0.81378|0.81378	-0.0960|-0.0960	8|9	0.87932|0.66056	D|D	0|0.02	-42.1714|-42.1714	11.4869|11.4869	0.50358|0.50358	0.1795:0.8205:0.0:0.0|0.1795:0.8205:0.0:0.0	.|.	190|148;227;227	Q9NWX5-2|B4DRC4;A8K9U2;Q9NWX5	.|.;.;ASB6_HUMAN	D|W	190|227;148	ENSP00000277459:E190D|ENSP00000277458:G227W;ENSP00000416172:G148W	ENSP00000277459:E190D|ENSP00000277458:G227W	E|G	-|-	3|1	2|0	ASB6|ASB6	131440477|131440477	0.729000|0.729000	0.28090|0.28090	1.000000|1.000000	0.80357|0.80357	0.974000|0.974000	0.67602|0.67602	1.996000|1.996000	0.40776|0.40776	2.288000|2.288000	0.76882|0.76882	0.462000|0.462000	0.41574|0.41574	GAG|GGG		0.597	ASB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054594.1	NM_017873		15	39	1	0	8.60227e-14	1	9.36079e-14	15	39					A	132400656	C	A	132400656	3	1	435	1	0	0	0	0	1	0	0	0	1027	681	24	5	590	5	ASB6	9	132400656	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	535887	132400656	8812775	4475	25400											
GPR107	57720	broad.mit.edu	37	chr9	132890973	132890973	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctaacggggtataaattcCgtccggcttcagataacccc	10	11	8	12	3	2	1	1	0	1	1	4	1	4	1	4	3	2	2	4	3	5	7	rs201905145		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:132890973C>T	ENST00000372406.1	+	19	2146	c.1639C>T	c.(1639-1641)Cgt>Tgt	p.R547C	GPR107_ENST00000372410.3_Missense_Mutation_p.R518C|GPR107_ENST00000347136.6_Missense_Mutation_p.R499C	NM_001136557.1	NP_001130029.1	Q5VW38	GP107_HUMAN	G protein-coupled receptor 107	547						integral component of membrane (GO:0016021)				endometrium(2)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	11		Ovarian(14;0.000531)				GTATAAATTCCGTCCGGCTTC	0.443													C|||	1	0.000199681	0	0	5008	,	,		19145	0		0.001	False		,,,				2504	0					ENST00000372406.1																			0				endometrium(2)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	11						c.(1639-1641)Cgt>Tgt		G protein-coupled receptor 107							169	170	170					9																	132890973		2203	4300	6503	SO:0001583	missense	0					integral to membrane		g.chr9:132890973C>T	AF376725	CCDS35162.1, CCDS48041.1, CCDS48042.1	9q34.2	2014-01-30			ENSG00000148358	ENSG00000148358		"GPCR / Unclassified : 7TM orphan receptors"	17830	protein-coding gene	gene with protein product							Standard	NM_020960		Approved	KIAA1624, RP11-88G17, FLJ20998, LUSTR1	uc004bzd.2	Q5VW38	OTTHUMG00000020804	ENST00000372406.1:c.1639C>T	9.37:g.132890973C>T	ENSP00000361483:p.Arg547Cys					GPR107_ENST00000347136.6_Missense_Mutation_p.R499C|GPR107_ENST00000372410.3_Missense_Mutation_p.R518C	p.R547C	NM_001136557.1	NP_001130029.1	Q5VW38	GP107_HUMAN			19	2146	+		Ovarian(14;0.000531)	547					A6NJ53|Q2TB81|Q5JPA3|Q5VW39|Q96T26|Q9H658|Q9HCE8	Missense_Mutation	SNP	ENST00000372406.1	37	c.1639C>T	CCDS48041.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	27.9	4.869479	0.91587	.	.	ENSG00000148358	ENST00000372406;ENST00000347136;ENST00000372410	T;T;T	0.36157	1.46;1.28;1.27	5.77	5.77	0.91146	.	0.067064	0.64402	D	0.000009	T	0.67711	0.2922	M	0.88570	2.965	0.80722	D	1	D;D;D	0.89917	0.999;1.0;0.999	P;D;P	0.74674	0.855;0.984;0.855	T	0.73379	-0.4001	10	0.87932	D	0	-6.5263	18.5764	0.91157	0.0:1.0:0.0:0.0	.	518;547;499	G5E994;Q5VW38;Q5VW38-2	.;GP107_HUMAN;.	C	547;499;518	ENSP00000361483:R547C;ENSP00000336988:R499C;ENSP00000361487:R518C	ENSP00000336988:R499C	R	+	1	0	GPR107	131930794	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	3.546000	0.53656	2.724000	0.93272	0.561000	0.74099	CGT		0.443	GPR107-003	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054643.2			15	130	0	0	0	1	0	15	130					T	132890973	C	T	132890973	3	4	435	1	0	0	0	0	1	0	0	0	6623	652	23	2	1713	2	GPR107	9	132890973	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	490317	132890973	8322458	4476	25401											
ABL1	25	broad.mit.edu	37	chr9	133760700	133760700	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cttcatccctctcatatcaaCccgagtgtctcttcggaaaa	10	12	5	14	2	4	0	3	0	2	0	8	2	5	1	2	1	1	0	2	1	4	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:133760700C>T	ENST00000318560.5	+	11	3404	c.3023C>T	c.(3022-3024)aCc>aTc	p.T1008I		NM_005157.4	NP_005148.2	P00519	ABL1_HUMAN	ABL proto-oncogene 1, non-receptor tyrosine kinase	1008	F-actin-binding.|Pro-rich.				actin cytoskeleton organization (GO:0030036)|autophagy (GO:0006914)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cellular protein modification process (GO:0006464)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to dopamine (GO:1903351)|cellular response to oxidative stress (GO:0034599)|DNA damage induced protein phosphorylation (GO:0006975)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|mismatch repair (GO:0006298)|mitochondrial depolarization (GO:0051882)|mitotic nuclear division (GO:0007067)|muscle cell differentiation (GO:0042692)|negative regulation of phospholipase C activity (GO:1900275)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|negative regulation of ubiquitin-protein transferase activity (GO:0051444)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of oxidoreductase activity (GO:0051353)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of autophagy (GO:0010506)|regulation of cell adhesion (GO:0030155)|regulation of cell motility (GO:2000145)|regulation of endocytosis (GO:0030100)|regulation of response to DNA damage stimulus (GO:2001020)|regulation of transcription, DNA-templated (GO:0006355)|response to oxidative stress (GO:0006979)|signal transduction in response to DNA damage (GO:0042770)	actin cytoskeleton (GO:0015629)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	actin monomer binding (GO:0003785)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|mitogen-activated protein kinase binding (GO:0051019)|nicotinate-nucleotide adenylyltransferase activity (GO:0004515)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|proline-rich region binding (GO:0070064)|protein C-terminus binding (GO:0008022)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)|SH3 domain binding (GO:0017124)|syntaxin binding (GO:0019905)			breast(3)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1149)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	1195		all_hematologic(13;0.0361)|Acute lymphoblastic leukemia(5;0.0543)|Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.4e-05)	Adenosine triphosphate(DB00171)|Bosutinib(DB06616)|Dasatinib(DB01254)|Imatinib(DB00619)|Nilotinib(DB04868)|Ponatinib(DB08901)|Regorafenib(DB08896)	CTCATATCAACCCGAGTGTCT	0.662			"T, Mis"	"BCR, ETV6, NUP214"	"CML, ALL, T-ALL"																																	ENST00000318560.5				Dom	yes		9	9q34.1	25	"T, Mis"	v-abl Abelson murine leukemia viral oncogene homolog 1			L	"BCR, ETV6, NUP214"		"CML, ALL, T-ALL"		0				breast(3)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1149)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	1195						c.(3022-3024)aCc>aTc		c-abl oncogene 1, non-receptor tyrosine kinase	Adenosine triphosphate(DB00171)|Dasatinib(DB01254)|Imatinib(DB00619)						61	71	67					9																	133760700		2203	4300	6503	SO:0001583	missense	25				actin cytoskeleton organization|axon guidance|blood coagulation|cell adhesion|DNA damage induced protein phosphorylation|DNA damage response, signal transduction resulting in induction of apoptosis|mismatch repair|muscle cell differentiation|negative regulation of protein serine/threonine kinase activity|peptidyl-tyrosine phosphorylation|positive regulation of muscle cell differentiation|positive regulation of oxidoreductase activity|regulation of transcription involved in S phase of mitotic cell cycle	cytoskeleton|cytosol|nuclear membrane|nucleolus|perinuclear region of cytoplasm	ATP binding|DNA binding|magnesium ion binding|manganese ion binding|mitogen-activated protein kinase binding|non-membrane spanning protein tyrosine kinase activity|proline-rich region binding|protein C-terminus binding|SH3 domain binding	g.chr9:133760700C>T	M14752	CCDS35165.1, CCDS35166.1	9q34.1	2014-09-17	2014-06-26		ENSG00000097007	ENSG00000097007		"SH2 domain containing"	76	protein-coding gene	gene with protein product		189980	"v-abl Abelson murine leukemia viral oncogene homolog 1", "c-abl oncogene 1, receptor tyrosine kinase", "c-abl oncogene 1, non-receptor tyrosine kinase"	ABL		1857987, 12626632	Standard	NM_007313		Approved	JTK7, c-ABL, p150	uc004bzv.3	P00519	OTTHUMG00000020813	ENST00000318560.5:c.3023C>T	9.37:g.133760700C>T	ENSP00000323315:p.Thr1008Ile						p.T1008I	NM_005157.4	NP_005148.2	P00519	ABL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.4e-05)	11	3404	+		all_hematologic(13;0.0361)|Acute lymphoblastic leukemia(5;0.0543)|Myeloproliferative disorder(178;0.204)	1008			F-actin-binding.|Pro-rich.		A3KFJ3|Q13869|Q13870|Q16133|Q17R61|Q45F09	Missense_Mutation	SNP	ENST00000318560.5	37	c.3023C>T	CCDS35166.1	.	.	.	.	.	.	.	.	.	.	C	25.4	4.633416	0.87660	.	.	ENSG00000097007	ENST00000444970;ENST00000372348;ENST00000318560	T;T	0.79845	-1.29;-1.31	5.26	5.26	0.73747	F-actin binding (2);	0.000000	0.85682	D	0.000000	D	0.88235	0.6382	L	0.58101	1.795	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.89120	0.3502	10	0.72032	D	0.01	.	17.8543	0.88758	0.0:1.0:0.0:0.0	.	1008;1045	P00519;Q59FK4	ABL1_HUMAN;.	I	823;1027;1008	ENSP00000361423:T1027I;ENSP00000323315:T1008I	ENSP00000323315:T1008I	T	+	2	0	ABL1	132750521	1.000000	0.71417	0.957000	0.39632	0.977000	0.68977	7.755000	0.85180	2.457000	0.83068	0.555000	0.69702	ACC		0.662	ABL1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054684.1	NM_007313		13	31	0	0	0	1	0	13	31					T	133760700	C	T	133760700	3	4	435	1	0	0	0	0	1	0	0	0	92	507	18	3	3205	3	ABL1	9	133760700	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	869727	133760700	7452731	4477	25402											
LAMC3	10319	broad.mit.edu	37	chr9	133911650	133911650	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccaccggcacagactgtgagCgctgcctgcccttcttccag	6	8	10	17	2	1	2	0	1	1	1	2	2	2	2	5	1	3	2	5	1	0	2	rs376297941		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:133911650C>T	ENST00000361069.4	+	4	1040	c.907C>T	c.(907-909)Cgc>Tgc	p.R303C	LAMC3_ENST00000480883.1_3'UTR	NM_006059.3	NP_006050.3	Q9Y6N6	LAMC3_HUMAN	laminin, gamma 3	303	Laminin EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00460}.				astrocyte development (GO:0014002)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|extracellular matrix organization (GO:0030198)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	structural molecule activity (GO:0005198)			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(31)|ovary(3)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	69	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)		AGACTGTGAGCGCTGCCTGCC	0.692																																						ENST00000361069.4																			0				endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(31)|ovary(3)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	69						c.(907-909)Cgc>Tgc		laminin, gamma 3		C	CYS/ARG	0,4400		0,0,2200	28	32	31		907	3	1	9		31	1,8595		0,1,4297	no	missense	LAMC3	NM_006059.3	180	0,1,6497	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging	303/1576	133911650	1,12995	2200	4298	6498	SO:0001583	missense	10319				cell adhesion	basement membrane|membrane	structural molecule activity	g.chr9:133911650C>T	AF041835	CCDS6938.1	9q31-q34	2013-03-01			ENSG00000050555	ENSG00000050555		"Laminins"	6494	protein-coding gene	gene with protein product		604349				10225960	Standard	NM_006059		Approved	DKFZp434E202	uc004caa.1	Q9Y6N6	OTTHUMG00000020819	ENST00000361069.4:c.907C>T	9.37:g.133911650C>T	ENSP00000354360:p.Arg303Cys					LAMC3_ENST00000480883.1_3'UTR	p.R303C	NM_006059.3	NP_006050.3	Q9Y6N6	LAMC3_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)	4	1040	+	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)	303			Laminin EGF-like 1.		B1APX9|B1APY0|Q59H72	Missense_Mutation	SNP	ENST00000361069.4	37	c.907C>T	CCDS6938.1	.	.	.	.	.	.	.	.	.	.	C	10.97	1.502955	0.26949	0.0	1.16E-4	ENSG00000050555	ENST00000361069;ENST00000355048;ENST00000320021	T	0.64991	-0.13	5.06	2.99	0.34606	EGF-like, laminin (4);	0.474905	0.21551	N	0.072731	T	0.69833	0.3155	H	0.94264	3.515	0.42742	D	0.993745	B	0.33022	0.394	B	0.33690	0.168	T	0.74598	-0.3612	10	0.72032	D	0.01	.	9.1215	0.36791	0.2261:0.6927:0.0:0.0812	.	303	Q9Y6N6	LAMC3_HUMAN	C	303	ENSP00000354360:R303C	ENSP00000325873:R303C	R	+	1	0	LAMC3	132901471	0.000000	0.05858	1.000000	0.80357	0.328000	0.28507	-0.419000	0.07071	1.127000	0.42034	-0.362000	0.07510	CGC		0.692	LAMC3-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054717.3	NM_006059		29	29	0	0	0	1	0	29	29					T	133911650	C	T	133911650	3	4	435	1	0	0	0	0	1	0	0	0	8616	768	27	1	921	1	LAMC3	9	133911650	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	150950	133911650	7301781	4478	25403											
LAMC3	10319	broad.mit.edu	37	chr9	133936475	133936475	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	catcctgtgaacgctgtttgCcaggtttctatggcaaccct	7	13	9	12	1	1	1	0	1	1	0	2	1	2	1	3	2	3	4	3	2	3	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:133936475C>T	ENST00000361069.4	+	13	2345	c.2212C>T	c.(2212-2214)Cca>Tca	p.P738S	LAMC3_ENST00000480883.1_Intron	NM_006059.3	NP_006050.3	Q9Y6N6	LAMC3_HUMAN	laminin, gamma 3	738	Laminin EGF-like 6. {ECO:0000255|PROSITE- ProRule:PRU00460}.				astrocyte development (GO:0014002)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|extracellular matrix organization (GO:0030198)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	structural molecule activity (GO:0005198)			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(31)|ovary(3)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	69	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)		ACGCTGTTTGCCAGGTTTCTA	0.622																																						ENST00000361069.4																			0				endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(31)|ovary(3)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	69						c.(2212-2214)Cca>Tca		laminin, gamma 3							92	82	85					9																	133936475		2203	4300	6503	SO:0001583	missense	10319				cell adhesion	basement membrane|membrane	structural molecule activity	g.chr9:133936475C>T	AF041835	CCDS6938.1	9q31-q34	2013-03-01			ENSG00000050555	ENSG00000050555		"Laminins"	6494	protein-coding gene	gene with protein product		604349				10225960	Standard	NM_006059		Approved	DKFZp434E202	uc004caa.1	Q9Y6N6	OTTHUMG00000020819	ENST00000361069.4:c.2212C>T	9.37:g.133936475C>T	ENSP00000354360:p.Pro738Ser					LAMC3_ENST00000480883.1_Intron	p.P738S	NM_006059.3	NP_006050.3	Q9Y6N6	LAMC3_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)	13	2345	+	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)	738			Laminin EGF-like 6.		B1APX9|B1APY0|Q59H72	Missense_Mutation	SNP	ENST00000361069.4	37	c.2212C>T	CCDS6938.1	.	.	.	.	.	.	.	.	.	.	C	7.107	0.575310	0.13623	.	.	ENSG00000050555	ENST00000361069;ENST00000355048	T	0.62498	0.02	4.79	2.74	0.32292	EGF-like, laminin (4);	0.376195	0.27495	N	0.019102	T	0.49115	0.1538	L	0.41906	1.305	0.09310	N	1	B	0.12013	0.005	B	0.22152	0.038	T	0.34825	-0.9813	10	0.28530	T	0.3	.	8.6307	0.33917	0.1576:0.5422:0.3002:0.0	.	738	Q9Y6N6	LAMC3_HUMAN	S	738	ENSP00000354360:P738S	ENSP00000347156:P738S	P	+	1	0	LAMC3	132926296	0.025000	0.19082	0.844000	0.33320	0.029000	0.11900	0.457000	0.21875	0.969000	0.38237	0.557000	0.71058	CCA		0.622	LAMC3-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054717.3	NM_006059		13	27	0	0	0	1	0	13	27					T	133936475	C	T	133936475	3	4	435	1	0	0	0	0	1	0	0	0	8616	739	26	3	2262	3	LAMC3	9	133936475	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	24825	133936475	7276956	4479	25404											
NUP214	8021	broad.mit.edu	37	chr9	134004684	134004684	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	aggctaaacagcaaaaacgcCcatttgcctatcataagctt	15	9	6	11	1	1	0	1	0	0	0	1	0	1	0	2	1	5	3	2	1	6	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:134004684C>A	ENST00000359428.5	+	4	556	c.412C>A	c.(412-414)Cca>Aca	p.P138T	NUP214_ENST00000411637.2_Missense_Mutation_p.P138T|NUP214_ENST00000451030.1_Missense_Mutation_p.P138T|RNU6-881P_ENST00000516813.1_RNA			P35658	NU214_HUMAN	nucleoporin 214kDa	138	Seven-bladed beta propeller.				carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|gene expression (GO:0010467)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|protein export from nucleus (GO:0006611)|protein import into nucleus (GO:0006606)|regulation of cell cycle (GO:0051726)|regulation of glucose transport (GO:0010827)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|focal adhesion (GO:0005925)|intracellular membrane-bounded organelle (GO:0043231)|nuclear pore (GO:0005643)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleocytoplasmic transporter activity (GO:0005487)|transporter activity (GO:0005215)			NS(1)|breast(9)|central_nervous_system(3)|endometrium(13)|kidney(2)|large_intestine(9)|liver(2)|lung(29)|ovary(2)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	86	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256)		GCAAAAACGCCCATTTGCCTA	0.373			T	"DEK, SET, ABL1"	"AML, T-ALL"																																Pancreas(4;24 48 25510 30394 32571)	ENST00000359428.5				Dom	yes		9	9q34.1	8021	T	nucleoporin 214kDa (CAN)			L	"DEK, SET, ABL1"		"AML, T-ALL"		0				NS(1)|breast(9)|central_nervous_system(3)|endometrium(13)|kidney(2)|large_intestine(9)|liver(2)|lung(29)|ovary(2)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	86						c.(412-414)Cca>Aca		nucleoporin 214kDa							119	100	107					9																	134004684		2203	4300	6503	SO:0001583	missense	8021				carbohydrate metabolic process|glucose transport|mRNA metabolic process|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore|nucleoplasm	protein binding	g.chr9:134004684C>A	X64228	CCDS6940.1	9q34	2008-07-21	2002-08-29		ENSG00000126883	ENSG00000126883			8064	protein-coding gene	gene with protein product	"nuclear pore complex protein Nup214", "CAN protein, putative oncogene"	114350	"nucleoporin 214kD (CAIN)"			8108440, 2370860	Standard	NM_005085		Approved	CAIN, CAN, D9S46E, N214	uc004cag.3	P35658	OTTHUMG00000020816	ENST00000359428.5:c.412C>A	9.37:g.134004684C>A	ENSP00000352400:p.Pro138Thr					NUP214_ENST00000451030.1_Missense_Mutation_p.P138T|NUP214_ENST00000411637.2_Missense_Mutation_p.P138T	p.P138T			P35658	NU214_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256)	4	556	+	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)	138					A6NFQ0|Q15010|Q3KQZ0|Q5JUP7|Q75R47|Q86XD3	Missense_Mutation	SNP	ENST00000359428.5	37	c.412C>A	CCDS6940.1	.	.	.	.	.	.	.	.	.	.	C	18.65	3.670295	0.67814	.	.	ENSG00000126883	ENST00000359428;ENST00000411637;ENST00000451030;ENST00000541375;ENST00000531584	D;D;D;D	0.93426	-3.22;-3.22;-3.22;-3.22	5.67	5.67	0.87782	WD40/YVTN repeat-like-containing domain (1);	0.000000	0.38058	N	0.001840	D	0.94532	0.8239	L	0.55481	1.735	0.49389	D	0.999788	D;D	0.71674	0.998;0.998	D;D	0.68039	0.955;0.955	D	0.92378	0.5911	10	0.27082	T	0.32	-16.7092	11.4985	0.50424	0.139:0.7268:0.1342:0.0	.	138;138	P35658-4;P35658	.;NU214_HUMAN	T	138;138;138;138;48	ENSP00000352400:P138T;ENSP00000396576:P138T;ENSP00000405014:P138T;ENSP00000435874:P48T	ENSP00000352400:P138T	P	+	1	0	NUP214	132994505	0.997000	0.39634	0.993000	0.49108	0.675000	0.39556	3.881000	0.56152	2.680000	0.91292	0.655000	0.94253	CCA		0.373	NUP214-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000054694.2	NM_005085		8	34	1	0	1.12685e-05	1	1.16601e-05	8	34					A	134004684	C	A	134004684	3	1	435	1	0	0	0	0	1	0	0	0	10762	623	22	5	426	5	NUP214	9	134004684	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	68209	134004684	7208747	4480	25405											
NUP214	8021	broad.mit.edu	37	chr9	134004775	134004775	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccctccatggtggcagtttGtctggctgatggtagtattg	5	14	13	9	0	1	1	0	1	1	0	2	1	2	1	3	4	0	5	3	4	2	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:134004775G>A	ENST00000359428.5	+	4	647	c.503G>A	c.(502-504)tGt>tAt	p.C168Y	NUP214_ENST00000411637.2_Missense_Mutation_p.C168Y|NUP214_ENST00000451030.1_Missense_Mutation_p.C168Y|RNU6-881P_ENST00000516813.1_RNA			P35658	NU214_HUMAN	nucleoporin 214kDa	168	Seven-bladed beta propeller.				carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|gene expression (GO:0010467)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|protein export from nucleus (GO:0006611)|protein import into nucleus (GO:0006606)|regulation of cell cycle (GO:0051726)|regulation of glucose transport (GO:0010827)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|focal adhesion (GO:0005925)|intracellular membrane-bounded organelle (GO:0043231)|nuclear pore (GO:0005643)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleocytoplasmic transporter activity (GO:0005487)|transporter activity (GO:0005215)			NS(1)|breast(9)|central_nervous_system(3)|endometrium(13)|kidney(2)|large_intestine(9)|liver(2)|lung(29)|ovary(2)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	86	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256)		GTGGCAGTTTGTCTGGCTGAT	0.468			T	"DEK, SET, ABL1"	"AML, T-ALL"																																Pancreas(4;24 48 25510 30394 32571)	ENST00000359428.5				Dom	yes		9	9q34.1	8021	T	nucleoporin 214kDa (CAN)			L	"DEK, SET, ABL1"		"AML, T-ALL"		0				NS(1)|breast(9)|central_nervous_system(3)|endometrium(13)|kidney(2)|large_intestine(9)|liver(2)|lung(29)|ovary(2)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	86						c.(502-504)tGt>tAt		nucleoporin 214kDa							252	189	210					9																	134004775		2203	4300	6503	SO:0001583	missense	8021				carbohydrate metabolic process|glucose transport|mRNA metabolic process|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore|nucleoplasm	protein binding	g.chr9:134004775G>A	X64228	CCDS6940.1	9q34	2008-07-21	2002-08-29		ENSG00000126883	ENSG00000126883			8064	protein-coding gene	gene with protein product	"nuclear pore complex protein Nup214", "CAN protein, putative oncogene"	114350	"nucleoporin 214kD (CAIN)"			8108440, 2370860	Standard	NM_005085		Approved	CAIN, CAN, D9S46E, N214	uc004cag.3	P35658	OTTHUMG00000020816	ENST00000359428.5:c.503G>A	9.37:g.134004775G>A	ENSP00000352400:p.Cys168Tyr					NUP214_ENST00000451030.1_Missense_Mutation_p.C168Y|NUP214_ENST00000411637.2_Missense_Mutation_p.C168Y	p.C168Y			P35658	NU214_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256)	4	647	+	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)	168					A6NFQ0|Q15010|Q3KQZ0|Q5JUP7|Q75R47|Q86XD3	Missense_Mutation	SNP	ENST00000359428.5	37	c.503G>A	CCDS6940.1	.	.	.	.	.	.	.	.	.	.	G	26.7	4.766948	0.90020	.	.	ENSG00000126883	ENST00000359428;ENST00000411637;ENST00000451030;ENST00000541375	D;D;D	0.94138	-3.36;-3.36;-3.36	4.94	4.94	0.65067	WD40/YVTN repeat-like-containing domain (1);	0.000000	0.41712	D	0.000822	D	0.96043	0.8711	M	0.61703	1.905	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.96553	0.9409	10	0.87932	D	0	-6.7692	17.5111	0.87760	0.0:0.0:1.0:0.0	.	168;168	P35658-4;P35658	.;NU214_HUMAN	Y	168	ENSP00000352400:C168Y;ENSP00000396576:C168Y;ENSP00000405014:C168Y	ENSP00000352400:C168Y	C	+	2	0	NUP214	132994596	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	8.767000	0.91732	2.434000	0.82447	0.655000	0.94253	TGT		0.468	NUP214-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000054694.2	NM_005085		32	58	0	0	0	1	0	32	58					A	134004775	G	A	134004775	3	1	435	1	0	0	0	0	1	0	0	0	10762	1377	48	3	517	3	NUP214	9	134004775	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	91	134004775	7208656	4481	25406											
NUP214	8021	broad.mit.edu	37	chr9	134049546	134049546	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctggagagtgaagatgcaCggacgtcctgtaaagatgac	12	8	13	8	2	1	5	0	2	1	3	2	7	2	6	1	2	1	2	1	2	3	1	rs79941555	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:134049546C>T	ENST00000359428.5	+	22	3142	c.2998C>T	c.(2998-3000)Cgg>Tgg	p.R1000W	NUP214_ENST00000411637.2_Missense_Mutation_p.R990W|NUP214_ENST00000451030.1_Missense_Mutation_p.R1001W			P35658	NU214_HUMAN	nucleoporin 214kDa	1000	11 X 5 AA approximate repeats.				carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|gene expression (GO:0010467)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|protein export from nucleus (GO:0006611)|protein import into nucleus (GO:0006606)|regulation of cell cycle (GO:0051726)|regulation of glucose transport (GO:0010827)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|focal adhesion (GO:0005925)|intracellular membrane-bounded organelle (GO:0043231)|nuclear pore (GO:0005643)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleocytoplasmic transporter activity (GO:0005487)|transporter activity (GO:0005215)			NS(1)|breast(9)|central_nervous_system(3)|endometrium(13)|kidney(2)|large_intestine(9)|liver(2)|lung(29)|ovary(2)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	86	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256)		TGAAGATGCACGGACGTCCTG	0.557			T	"DEK, SET, ABL1"	"AML, T-ALL"								C|||	2	0.000399361	0.0015	0	5008	,	,		15541	0		0	False		,,,				2504	0				Pancreas(4;24 48 25510 30394 32571)	ENST00000359428.5				Dom	yes		9	9q34.1	8021	T	nucleoporin 214kDa (CAN)			L	"DEK, SET, ABL1"		"AML, T-ALL"		0				NS(1)|breast(9)|central_nervous_system(3)|endometrium(13)|kidney(2)|large_intestine(9)|liver(2)|lung(29)|ovary(2)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	86						c.(2998-3000)Cgg>Tgg		nucleoporin 214kDa		C	TRP/ARG	2,4404	4.2+/-10.8	0,2,2201	126	114	118		2998	5.8	0.5	9	dbSNP_131	118	0,8600		0,0,4300	yes	missense	NUP214	NM_005085.2	101	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	probably-damaging	1000/2091	134049546	2,13004	2203	4300	6503	SO:0001583	missense	8021				carbohydrate metabolic process|glucose transport|mRNA metabolic process|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore|nucleoplasm	protein binding	g.chr9:134049546C>T	X64228	CCDS6940.1	9q34	2008-07-21	2002-08-29		ENSG00000126883	ENSG00000126883			8064	protein-coding gene	gene with protein product	"nuclear pore complex protein Nup214", "CAN protein, putative oncogene"	114350	"nucleoporin 214kD (CAIN)"			8108440, 2370860	Standard	NM_005085		Approved	CAIN, CAN, D9S46E, N214	uc004cag.3	P35658	OTTHUMG00000020816	ENST00000359428.5:c.2998C>T	9.37:g.134049546C>T	ENSP00000352400:p.Arg1000Trp					NUP214_ENST00000451030.1_Missense_Mutation_p.R1001W|NUP214_ENST00000411637.2_Missense_Mutation_p.R990W	p.R1000W			P35658	NU214_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256)	22	3142	+	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)	1000			11 X 5 AA approximate repeats.		A6NFQ0|Q15010|Q3KQZ0|Q5JUP7|Q75R47|Q86XD3	Missense_Mutation	SNP	ENST00000359428.5	37	c.2998C>T	CCDS6940.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	26.9	4.781298	0.90282	4.54E-4	0.0	ENSG00000126883	ENST00000359428;ENST00000411637;ENST00000451030;ENST00000541375;ENST00000540899;ENST00000438605	T;T;T	0.32988	1.43;1.43;1.43	5.81	5.81	0.92471	.	0.564807	0.14921	N	0.290661	T	0.32010	0.0815	N	0.08118	0	0.27506	N	0.951831	D;D;D;D	0.71674	0.998;0.998;0.995;0.995	P;P;P;P	0.53861	0.711;0.736;0.736;0.736	T	0.37150	-0.9718	10	0.66056	D	0.02	-0.4585	19.0707	0.93134	0.0:1.0:0.0:0.0	.	989;594;990;1000	P35658-2;Q5JUP9;P35658-4;P35658	.;.;.;NU214_HUMAN	W	1000;990;1001;989;594;429	ENSP00000352400:R1000W;ENSP00000396576:R990W;ENSP00000405014:R1001W	ENSP00000352400:R1000W	R	+	1	2	NUP214	133039367	0.449000	0.25689	0.491000	0.27477	0.668000	0.39293	3.824000	0.55723	2.746000	0.94184	0.655000	0.94253	CGG		0.557	NUP214-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000054694.2	NM_005085		20	56	0	0	0	1	0	20	56					T	134049546	C	T	134049546	3	4	435	1	0	0	0	0	1	0	0	0	10762	527	19	1	3084	1	NUP214	9	134049546	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	44771	134049546	7163885	4482	25407											
FAM78A	286336	broad.mit.edu	37	chr9	134136239	134136239	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttgggcgggatcaccaccagCggctgcccgtacttgggccg	5	7	15	14	4	1	0	1	0	0	0	1	1	1	1	4	4	3	2	4	4	1	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:134136239C>T	ENST00000372271.3	-	2	1189	c.822G>A	c.(820-822)ccG>ccA	p.P274P	FAM78A_ENST00000372269.3_Silent_p.P271P|FAM78A_ENST00000247295.4_5'UTR	NM_033387.3	NP_203745.2	Q5JUQ0	FA78A_HUMAN	family with sequence similarity 78, member A	274										NS(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	9	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;2.15e-05)|Epithelial(140;0.000267)		TCACCACCAGCGGCTGCCCGT	0.577																																						ENST00000372271.3																			0				NS(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	9						c.(820-822)ccG>ccA		family with sequence similarity 78, member A							68	74	72					9																	134136239		2203	4300	6503	SO:0001819	synonymous_variant	286336							g.chr9:134136239C>T	AK095423	CCDS6941.2	9q34	2008-02-05	2005-07-18	2005-07-18	ENSG00000126882	ENSG00000126882			25465	protein-coding gene	gene with protein product			"chromosome 9 open reading frame 59"	C9orf59		11214971	Standard	NM_033387		Approved	FLJ00024	uc004cak.3	Q5JUQ0	OTTHUMG00000020821	ENST00000372271.3:c.822G>A	9.37:g.134136239C>T						FAM78A_ENST00000372269.3_Silent_p.P271P|FAM78A_ENST00000247295.4_5'UTR	p.P274P	NM_033387.3	NP_203745.2	Q5JUQ0	FA78A_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;2.15e-05)|Epithelial(140;0.000267)	2	1189	-	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)	274					Q86VQ9|Q9H7P4	Silent	SNP	ENST00000372271.3	37	c.822G>A	CCDS6941.2																																																																																				0.577	FAM78A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054720.1	NM_033387		8	94	0	0	0	1	0	8	94					T	134136239	C	T	134136239	2	4	435	1	0	0	0	0	0	0	0	1	5626	755	27	1		1	FAM78A	9	134136239	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	86693	134136239	7077192	4483	25408											
PPAPDC3	84814	broad.mit.edu	37	chr9	134165620	134165620	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gctgaacccctccttcaaggGcatcgccttcaactccctgc	7	9	7	18	1	2	1	2	1	0	0	5	1	4	1	5	1	3	2	5	1	3	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:134165620G>A	ENST00000372264.3	+	1	540	c.236G>A	c.(235-237)gGc>gAc	p.G79D	PPAPDC3_ENST00000372261.1_Missense_Mutation_p.G79D	NM_032728.3	NP_116117.3	Q8NBV4	PPAC3_HUMAN	phosphatidic acid phosphatase type 2 domain containing 3	79	interaction with MTOR. {ECO:0000250}.				negative regulation of myotube differentiation (GO:0010832)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)	hydrolase activity (GO:0016787)			breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(9)|skin(1)	16	all_hematologic(7;0.0119)			OV - Ovarian serous cystadenocarcinoma(145;1.22e-05)|Epithelial(140;0.000173)		TCCTTCAAGGGCATCGCCTTC	0.662																																						ENST00000372264.3																			0				breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(9)|skin(1)	16						c.(235-237)gGc>gAc		phosphatidic acid phosphatase type 2 domain containing 3							74	70	72					9																	134165620		2203	4300	6503	SO:0001583	missense	84814					endoplasmic reticulum membrane|integral to membrane|nuclear envelope	hydrolase activity	g.chr9:134165620G>A	AK027568	CCDS6942.1	9q34.2-q34.3	2008-02-26	2005-07-15	2005-07-15	ENSG00000160539	ENSG00000160539			28174	protein-coding gene	gene with protein product			"chromosome 9 open reading frame 67"	C9orf67		12958361	Standard	NM_032728		Approved	MGC12921, FLJ14662, NET39	uc004cal.2	Q8NBV4	OTTHUMG00000020822	ENST00000372264.3:c.236G>A	9.37:g.134165620G>A	ENSP00000361338:p.Gly79Asp					PPAPDC3_ENST00000372261.1_Missense_Mutation_p.G79D	p.G79D	NM_032728.3	NP_116117.3	Q8NBV4	PPAC3_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.22e-05)|Epithelial(140;0.000173)	1	540	+	all_hematologic(7;0.0119)		79			interaction with MTOR (By similarity).		Q5T6P0|Q96SS7|Q9BRC3	Missense_Mutation	SNP	ENST00000372264.3	37	c.236G>A	CCDS6942.1	.	.	.	.	.	.	.	.	.	.	G	32	5.125344	0.94429	.	.	ENSG00000160539	ENST00000372264;ENST00000372261	T;T	0.48522	1.8;0.81	5.38	5.38	0.77491	.	0.000000	0.85682	D	0.000000	T	0.67505	0.2900	M	0.72894	2.215	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.62685	-0.6802	10	0.23302	T	0.38	-40.1678	18.1257	0.89585	0.0:0.0:1.0:0.0	.	79	Q8NBV4	PPAC3_HUMAN	D	79	ENSP00000361338:G79D;ENSP00000361335:G79D	ENSP00000361335:G79D	G	+	2	0	PPAPDC3	133155441	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.608000	0.82898	2.530000	0.85305	0.561000	0.74099	GGC		0.662	PPAPDC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054724.1	NM_032728		17	66	0	0	0	1	0	17	66					A	134165620	G	A	134165620	3	1	435	1	0	0	0	0	1	0	0	0	12296	1203	42	3	238	3	PPAPDC3	9	134165620	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	29381	134165620	7047811	4484	25409											
BAT2L1	84726	broad.mit.edu	37	chr9	134350236	134350236	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcctgggacaagaacgggaGccccaacaaacagccatcct	13	4	9	15	1	0	1	0	0	0	1	2	3	2	3	5	2	5	0	5	2	4	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:134350236G>A	ENST00000357304.4	+	15	2775	c.2720G>A	c.(2719-2721)aGc>aAc	p.S907N	PRRC2B_ENST00000458550.1_Intron|PRRC2B_ENST00000405995.1_Intron|PRRC2B_ENST00000372249.1_5'UTR	NM_013318.3	NP_037450.2	Q5JSZ5	PRC2B_HUMAN	proline-rich coiled-coil 2B	907							poly(A) RNA binding (GO:0044822)			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(20)|ovary(2)	44						AAGAACGGGAGCCCCAACAAA	0.662																																						ENST00000357304.4																			0				cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(20)|ovary(2)	44						c.(2719-2721)aGc>aAc		proline-rich coiled-coil 2B							12	13	13					9																	134350236		1942	4130	6072	SO:0001583	missense	84726						protein binding	g.chr9:134350236G>A	AB011087	CCDS48044.1	9q34.13	2010-12-09	2010-12-09	2010-12-09	ENSG00000130723	ENSG00000130723			28121	protein-coding gene	gene with protein product			"KIAA0515", "HLA-B associated transcript 2-like", "HLA-B associated transcript 2-like 1"	KIAA0515, BAT2L, BAT2L1		9628581	Standard	NM_013318		Approved	MGC10526, LQFBS-1	uc004can.4	Q5JSZ5	OTTHUMG00000020827	ENST00000357304.4:c.2720G>A	9.37:g.134350236G>A	ENSP00000349856:p.Ser907Asn					PRRC2B_ENST00000372249.1_5'UTR|PRRC2B_ENST00000458550.1_Intron|PRRC2B_ENST00000405995.1_Intron	p.S907N	NM_013318.3	NP_037450.2	Q5JSZ5	PRC2B_HUMAN			15	2775	+			907					O60270|Q5JSZ7|Q66VZ2|Q68CR0|Q96EI9|Q9H683	Missense_Mutation	SNP	ENST00000357304.4	37	c.2720G>A	CCDS48044.1	.	.	.	.	.	.	.	.	.	.	G	0.044	-1.274734	0.01410	.	.	ENSG00000130723	ENST00000357304;ENST00000418650	T	0.03004	4.08	5.61	2.79	0.32731	.	.	.	.	.	T	0.02649	0.0080	N	0.24115	0.695	0.53688	D	0.999979	B;B	0.06786	0.001;0.001	B;B	0.09377	0.004;0.001	T	0.50980	-0.8763	8	.	.	.	.	7.4277	0.27109	0.1926:0.1356:0.6719:0.0	.	203;907	Q5H9R5;Q5JSZ5	.;PRC2B_HUMAN	N	907;203	ENSP00000349856:S907N	.	S	+	2	0	PRRC2B	133340057	0.030000	0.19436	0.679000	0.29978	0.046000	0.14306	0.310000	0.19356	0.322000	0.23283	0.655000	0.94253	AGC		0.662	PRRC2B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				5	6	0	0	0	1	0	5	6					A	134350236	G	A	134350236	3	1	435	1	0	0	0	0	1	0	0	0	1320	971	34	3	2778	3	BAT2L1	9	134350236	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	184616	134350236	6863195	4485	25410											
BAT2L1	84726	broad.mit.edu	37	chr9	134350749	134350749	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cagagagttcacttttcgtgGtcggcctgctggcggaaatg	7	11	14	9	3	1	1	1	0	0	1	3	3	1	2	1	4	1	2	1	4	1	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:134350749G>A	ENST00000357304.4	+	15	3288	c.3233G>A	c.(3232-3234)gGt>gAt	p.G1078D	PRRC2B_ENST00000458550.1_Intron|PRRC2B_ENST00000405995.1_Intron|PRRC2B_ENST00000372249.1_5'UTR	NM_013318.3	NP_037450.2	Q5JSZ5	PRC2B_HUMAN	proline-rich coiled-coil 2B	1078							poly(A) RNA binding (GO:0044822)			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(20)|ovary(2)	44						ACTTTTCGTGGTCGGCCTGCT	0.637																																						ENST00000357304.4																			0				cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(20)|ovary(2)	44						c.(3232-3234)gGt>gAt		proline-rich coiled-coil 2B							16	18	18					9																	134350749		1855	4091	5946	SO:0001583	missense	84726						protein binding	g.chr9:134350749G>A	AB011087	CCDS48044.1	9q34.13	2010-12-09	2010-12-09	2010-12-09	ENSG00000130723	ENSG00000130723			28121	protein-coding gene	gene with protein product			"KIAA0515", "HLA-B associated transcript 2-like", "HLA-B associated transcript 2-like 1"	KIAA0515, BAT2L, BAT2L1		9628581	Standard	NM_013318		Approved	MGC10526, LQFBS-1	uc004can.4	Q5JSZ5	OTTHUMG00000020827	ENST00000357304.4:c.3233G>A	9.37:g.134350749G>A	ENSP00000349856:p.Gly1078Asp					PRRC2B_ENST00000372249.1_5'UTR|PRRC2B_ENST00000458550.1_Intron|PRRC2B_ENST00000405995.1_Intron	p.G1078D	NM_013318.3	NP_037450.2	Q5JSZ5	PRC2B_HUMAN			15	3288	+			1078					O60270|Q5JSZ7|Q66VZ2|Q68CR0|Q96EI9|Q9H683	Missense_Mutation	SNP	ENST00000357304.4	37	c.3233G>A	CCDS48044.1	.	.	.	.	.	.	.	.	.	.	G	19.02	3.744932	0.69418	.	.	ENSG00000130723	ENST00000357304;ENST00000418650	T	0.26810	1.71	6.17	6.17	0.99709	.	.	.	.	.	T	0.48059	0.1479	M	0.65498	2.005	0.80722	D	1	D;D	0.89917	1.0;0.998	D;P	0.76575	0.988;0.846	T	0.29397	-1.0013	8	.	.	.	.	13.0796	0.59107	0.0723:0.0:0.9277:0.0	.	374;1078	Q5H9R5;Q5JSZ5	.;PRC2B_HUMAN	D	1078;374	ENSP00000349856:G1078D	.	G	+	2	0	PRRC2B	133340570	1.000000	0.71417	0.879000	0.34478	0.683000	0.39861	7.636000	0.83301	2.941000	0.99782	0.655000	0.94253	GGT		0.637	PRRC2B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				7	14	0	0	0	1	0	7	14					A	134350749	G	A	134350749	3	1	435	1	0	0	0	0	1	0	0	0	1320	1261	44	3	3291	3	BAT2L1	9	134350749	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	513	134350749	6862682	4486	25411											
BAT2L1	84726	broad.mit.edu	37	chr9	134351102	134351102	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcggtctagatgccaagagcCgaggccctcgggcctttggg	6	7	16	12	3	1	2	0	0	1	2	2	3	1	2	4	4	2	0	4	4	2	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:134351102C>T	ENST00000357304.4	+	15	3641	c.3586C>T	c.(3586-3588)Cga>Tga	p.R1196*	PRRC2B_ENST00000458550.1_Intron|PRRC2B_ENST00000405995.1_Intron|PRRC2B_ENST00000372249.1_5'UTR	NM_013318.3	NP_037450.2	Q5JSZ5	PRC2B_HUMAN	proline-rich coiled-coil 2B	1196							poly(A) RNA binding (GO:0044822)			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(20)|ovary(2)	44						TGCCAAGAGCCGAGGCCCTCG	0.622																																						ENST00000357304.4																			0				cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(20)|ovary(2)	44						c.(3586-3588)Cga>Tga		proline-rich coiled-coil 2B							21	23	22					9																	134351102		1939	4142	6081	SO:0001587	stop_gained	84726						protein binding	g.chr9:134351102C>T	AB011087	CCDS48044.1	9q34.13	2010-12-09	2010-12-09	2010-12-09	ENSG00000130723	ENSG00000130723			28121	protein-coding gene	gene with protein product			"KIAA0515", "HLA-B associated transcript 2-like", "HLA-B associated transcript 2-like 1"	KIAA0515, BAT2L, BAT2L1		9628581	Standard	NM_013318		Approved	MGC10526, LQFBS-1	uc004can.4	Q5JSZ5	OTTHUMG00000020827	ENST00000357304.4:c.3586C>T	9.37:g.134351102C>T	ENSP00000349856:p.Arg1196*					PRRC2B_ENST00000372249.1_5'UTR|PRRC2B_ENST00000458550.1_Intron|PRRC2B_ENST00000405995.1_Intron	p.R1196*	NM_013318.3	NP_037450.2	Q5JSZ5	PRC2B_HUMAN			15	3641	+			1196					O60270|Q5JSZ7|Q66VZ2|Q68CR0|Q96EI9|Q9H683	Nonsense_Mutation	SNP	ENST00000357304.4	37	c.3586C>T	CCDS48044.1	.	.	.	.	.	.	.	.	.	.	C	41	8.985826	0.99027	.	.	ENSG00000130723	ENST00000357304;ENST00000418650	.	.	.	5.54	0.958	0.19619	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.3638	0.66792	0.7505:0.2494:0.0:0.0	.	.	.	.	X	1196;492	.	.	R	+	1	2	PRRC2B	133340923	1.000000	0.71417	0.974000	0.42286	0.966000	0.64601	5.333000	0.65917	0.247000	0.21414	0.462000	0.41574	CGA		0.622	PRRC2B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				3	10	0	0	0	1	0	3	10					T	134351102	C	T	134351102	4	4	435	1	0	0	0	0	0	1	0	0	1320	644	23	2	3644	2	BAT2L1	9	134351102	Nonsense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	353	134351102	6862329	4487	25412											
POMT1	10585	broad.mit.edu	37	chr9	134385176	134385176	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggctaacactgacaggggtcGcttgttcctgtgcagtgggg	6	10	16	9	1	0	1	0	1	0	0	2	1	1	1	1	5	2	4	1	5	1	3	rs199498900		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:134385176G>A	ENST00000372228.3	+	7	765	c.586G>A	c.(586-588)Gct>Act	p.A196T	POMT1_ENST00000354713.4_Missense_Mutation_p.A166T|POMT1_ENST00000402686.3_Missense_Mutation_p.A196T|POMT1_ENST00000423007.1_Missense_Mutation_p.A196T|POMT1_ENST00000341012.7_Missense_Mutation_p.A142T|POMT1_ENST00000541219.1_Intron|POMT1_ENST00000404875.2_Missense_Mutation_p.A79T|POMT1_ENST00000419118.2_Missense_Mutation_p.A44T	NM_007171.3	NP_009102	Q9Y6A1	POMT1_HUMAN	protein-O-mannosyltransferase 1	196					carbohydrate metabolic process (GO:0005975)|extracellular matrix organization (GO:0030198)|mannosylation (GO:0097502)|multicellular organismal development (GO:0007275)|protein O-linked glycosylation (GO:0006493)	acrosomal vesicle (GO:0001669)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|sarcoplasmic reticulum (GO:0016529)	dolichyl-phosphate-mannose-protein mannosyltransferase activity (GO:0004169)|mannosyltransferase activity (GO:0000030)|metal ion binding (GO:0046872)			NS(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	31		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;2.65e-05)|Epithelial(140;0.000259)		GACAGGGGTCGCTTGTTCCTG	0.468													G|||	1	0.000199681	0	0.0014	5008	,	,		19201	0		0	False		,,,				2504	0					ENST00000423007.1																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	31						c.(586-588)Gct>Act		protein-O-mannosyltransferase 1							240	210	220					9																	134385176		2203	4300	6503	SO:0001583	missense	10585				multicellular organismal development|protein O-linked glycosylation	endoplasmic reticulum membrane|integral to membrane	dolichyl-phosphate-mannose-protein mannosyltransferase activity|metal ion binding	g.chr9:134385176G>A	AF095136	CCDS6943.1, CCDS43894.1, CCDS43895.1, CCDS48045.1	9q34.1	2014-09-17			ENSG00000130714	ENSG00000130714	2.4.1.109	"Dolichyl D-mannosyl phosphate dependent mannosyltransferases"	9202	protein-coding gene	gene with protein product	"dolichyl-phosphate-mannose-protein mannosyltransferase"	607423				10366449	Standard	NM_001077366		Approved	LGMD2K	uc004cav.3	Q9Y6A1	OTTHUMG00000020826	ENST00000372228.3:c.586G>A	9.37:g.134385176G>A	ENSP00000361302:p.Ala196Thr					POMT1_ENST00000354713.4_Missense_Mutation_p.A166T|POMT1_ENST00000419118.2_Missense_Mutation_p.A44T|POMT1_ENST00000341012.7_Missense_Mutation_p.A142T|POMT1_ENST00000541219.1_Intron|POMT1_ENST00000404875.2_Missense_Mutation_p.A79T|POMT1_ENST00000372228.3_Missense_Mutation_p.A196T|POMT1_ENST00000402686.3_Missense_Mutation_p.A196T	p.A196T	NM_001136113.1	NP_001129585.1	Q9Y6A1	POMT1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;2.65e-05)|Epithelial(140;0.000259)	7	1028	+		Myeloproliferative disorder(178;0.204)	196					B3KQG0|B4DIF0|Q5JT01|Q5JT06|Q5JT08|Q8NC91|Q8TCA9|Q9NX32|Q9NX82|Q9UNT2	Missense_Mutation	SNP	ENST00000372228.3	37	c.586G>A	CCDS6943.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	6.012	0.370557	0.11352	.	.	ENSG00000130714	ENST00000423007;ENST00000404875;ENST00000341012;ENST00000441334;ENST00000372228;ENST00000402686;ENST00000419118;ENST00000354713;ENST00000448212;ENST00000430619	D;D;D;D;D;D;D;D;D;D	0.87179	-2.22;-2.22;-2.22;-2.22;-2.22;-2.22;-2.22;-2.22;-2.22;-2.22	5.63	1.01	0.19927	Glycosyl transferase, family 39 (1);	0.377447	0.31113	N	0.008240	D	0.88463	0.6443	M	0.80183	2.485	0.09310	N	1	B;P;B	0.52463	0.35;0.953;0.301	B;P;B	0.47251	0.244;0.542;0.103	T	0.82026	-0.0661	10	0.30078	T	0.28	-3.2307	15.8765	0.79166	0.0:0.0:0.4389:0.5611	.	166;196;196	B4DTW4;Q9Y6A1;Q9Y6A1-2	.;POMT1_HUMAN;.	T	196;79;142;79;196;196;44;166;142;79	ENSP00000404119:A196T;ENSP00000384531:A79T;ENSP00000343034:A142T;ENSP00000395060:A79T;ENSP00000361302:A196T;ENSP00000385797:A196T;ENSP00000403032:A44T;ENSP00000346748:A166T;ENSP00000403736:A142T;ENSP00000402083:A79T	ENSP00000343034:A142T	A	+	1	0	POMT1	133374997	0.985000	0.35326	0.004000	0.12327	0.014000	0.08584	2.182000	0.42556	0.268000	0.21939	-0.310000	0.09108	GCT		0.468	POMT1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054737.1	NM_007171		50	84	0	0	0	1	0	50	84					A	134385176	G	A	134385176	3	1	435	1	0	0	0	0	1	0	0	0	12245	1087	38	1	608	1	POMT1	9	134385176	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	34074	134385176	6828255	4488	25413											
RAPGEF1	2889	broad.mit.edu	37	chr9	134459741	134459741	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccagcctgcggatgggcgccGagtccagggcagagaggatg	8	4	18	11	3	0	1	0	0	0	1	1	5	1	3	4	4	2	1	4	4	0	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:134459741G>A	ENST00000372189.3	-	21	2936	c.2813C>T	c.(2812-2814)tCg>tTg	p.S938L	RAPGEF1_ENST00000372195.1_Missense_Mutation_p.S955L|RAPGEF1_ENST00000372190.3_Missense_Mutation_p.S956L	NM_005312.2	NP_005303.2	Q13905	RPGF1_HUMAN	Rap guanine nucleotide exchange factor (GEF) 1	938	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				activation of MAPKK activity (GO:0000186)|blood vessel development (GO:0001568)|cellular response to cAMP (GO:0071320)|cellular response to nerve growth factor stimulus (GO:1990090)|establishment of endothelial barrier (GO:0061028)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of neural precursor cell proliferation (GO:2000178)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of Ras protein signal transduction (GO:0046580)|nerve growth factor signaling pathway (GO:0038180)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of neuron projection development (GO:0010976)|positive regulation of Rap GTPase activity (GO:0032854)|Rap protein signal transduction (GO:0032486)|regulation of cell junction assembly (GO:1901888)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytosol (GO:0005829)|early endosome (GO:0005769)|endosome (GO:0005768)	Rap guanyl-nucleotide exchange factor activity (GO:0017034)			NS(2)|breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|lung(9)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1)	39		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;2.19e-05)|Epithelial(140;0.000364)		GATGGGCGCCGAGTCCAGGGC	0.672																																						ENST00000372195.1																			0				NS(2)|breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|lung(9)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1)	39						c.(2863-2865)tCg>tTg		Rap guanine nucleotide exchange factor (GEF) 1							25	30	28					9																	134459741		1993	4171	6164	SO:0001583	missense	2889				activation of MAPKK activity|nerve growth factor receptor signaling pathway|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|endosome	guanyl-nucleotide exchange factor activity|SH3 domain binding	g.chr9:134459741G>A	BC041710	CCDS48047.1	9q34.3	2008-02-05	2004-03-01	2004-03-02	ENSG00000107263	ENSG00000107263			4568	protein-coding gene	gene with protein product		600303	"guanine nucleotide-releasing factor 2 (specific for crk proto-oncogene)"	GRF2		7959692, 7512734	Standard	NM_005312		Approved	C3G	uc022bos.1	Q13905	OTTHUMG00000020829	ENST00000372189.3:c.2813C>T	9.37:g.134459741G>A	ENSP00000361263:p.Ser938Leu					RAPGEF1_ENST00000372190.3_Missense_Mutation_p.S956L|RAPGEF1_ENST00000372189.3_Missense_Mutation_p.S938L	p.S955L			Q13905	RPGF1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;2.19e-05)|Epithelial(140;0.000364)	21	3107	-		Myeloproliferative disorder(178;0.204)	938			Ras-GEF.		Q5JUE4|Q8IV73	Missense_Mutation	SNP	ENST00000372189.3	37	c.2864C>T	CCDS48047.1	.	.	.	.	.	.	.	.	.	.	G	31	5.102716	0.94245	.	.	ENSG00000107263	ENST00000266110;ENST00000372195;ENST00000429421;ENST00000372189;ENST00000372190;ENST00000411834;ENST00000337036;ENST00000357686	T;T;T	0.36157	1.27;1.27;1.27	4.93	4.93	0.64822	Guanine-nucleotide dissociation stimulator CDC25 (4);Ras guanine nucleotide exchange factor, domain (1);	0.000000	0.85682	D	0.000000	T	0.62221	0.2410	M	0.77616	2.38	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.73708	0.977;0.981	T	0.67612	-0.5626	10	0.87932	D	0	.	17.4783	0.87667	0.0:0.0:1.0:0.0	.	938;956	Q13905;Q13905-3	RPGF1_HUMAN;.	L	938;955;884;938;956;918;916;955	ENSP00000361269:S955L;ENSP00000361263:S938L;ENSP00000361264:S956L	ENSP00000266110:S938L	S	-	2	0	RAPGEF1	133449562	1.000000	0.71417	0.972000	0.41901	0.891000	0.51852	9.414000	0.97362	2.447000	0.82792	0.555000	0.69702	TCG		0.672	RAPGEF1-001	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054759.2	NM_005312		6	9	0	0	0	1	0	6	9					A	134459741	G	A	134459741	3	1	435	1	0	0	0	0	1	0	0	0	13043	1059	37	2	436	2	RAPGEF1	9	134459741	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	74565	134459741	6753690	4489	25414											
NTNG2	84628	broad.mit.edu	37	chr9	135073364	135073364	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ccgctgcaggagaatccctaCctatgcagcaacgagtgtga	11	7	11	12	2	0	2	0	1	0	1	1	4	1	2	3	1	5	4	3	1	4	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:135073364C>T	ENST00000393229.3	+	3	1001	c.225C>T	c.(223-225)taC>taT	p.Y75Y	NTNG2_ENST00000360670.3_Silent_p.Y75Y|NTNG2_ENST00000372179.3_Silent_p.Y75Y|NTNG2_ENST00000393228.4_Silent_p.Y75Y	NM_032536.2	NP_115925.2	Q96CW9	NTNG2_HUMAN	netrin G2	75	Laminin N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00466}.|NGL discriminant loop I.				axonogenesis (GO:0007409)	anchored component of plasma membrane (GO:0046658)|axon (GO:0030424)				central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	29				OV - Ovarian serous cystadenocarcinoma(145;1.23e-05)|Epithelial(140;0.000173)		AGAATCCCTACCTATGCAGCA	0.662																																						ENST00000393229.3																			0				central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	29						c.(223-225)taC>taT		netrin G2							32	32	32					9																	135073364		2203	4300	6503	SO:0001819	synonymous_variant	84628				axonogenesis	anchored to plasma membrane		g.chr9:135073364C>T	AB058760	CCDS6946.1	9q34	2013-03-01	2003-12-02	2003-12-03	ENSG00000196358	ENSG00000196358		"Netrins"	14288	protein-coding gene	gene with protein product	"Netrin-G2"		"netrin G1"	NTNG1			Standard	NM_032536		Approved	KIAA1857, Lmnt2	uc004cbh.2	Q96CW9	OTTHUMG00000020835	ENST00000393229.3:c.225C>T	9.37:g.135073364C>T						NTNG2_ENST00000360670.3_Silent_p.Y75Y|NTNG2_ENST00000393228.4_Silent_p.Y75Y|NTNG2_ENST00000372179.3_Silent_p.Y75Y	p.Y75Y	NM_032536.2	NP_115925.2	Q96CW9	NTNG2_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.23e-05)|Epithelial(140;0.000173)	3	1001	+			75			Laminin N-terminal.		Q5JUJ2|Q6UXY0|Q96JH0	Silent	SNP	ENST00000393229.3	37	c.225C>T	CCDS6946.1																																																																																				0.662	NTNG2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054779.1	NM_032536		12	15	0	0	0	1	0	12	15					T	135073364	C	T	135073364	2	4	435	1	0	0	0	0	0	0	0	1	10705	518	18	3		3	NTNG2	9	135073364	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	613623	135073364	6140067	4490	25415											
SETX	23064	broad.mit.edu	37	chr9	135139756	135139756	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ccccttcactgaaagccctgGcctctctcctgtgacagagc	7	9	8	17	0	2	3	1	2	1	1	4	3	3	3	5	1	2	0	5	1	1	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:135139756G>A	ENST00000224140.5	-	26	8086	c.7904C>T	c.(7903-7905)gCc>gTc	p.A2635V	SETX_ENST00000393220.1_Missense_Mutation_p.A2602V|SETX_ENST00000477049.1_5'UTR|SETX_ENST00000372169.2_Missense_Mutation_p.A2664V	NM_015046.5	NP_055861.3	Q7Z333	SETX_HUMAN	senataxin	2635					cell death (GO:0008219)|circadian rhythm (GO:0007623)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|RNA processing (GO:0006396)|termination of RNA polymerase II transcription (GO:0006369)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	97		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)		GAAAGCCCTGGCCTCTCTCCT	0.607																																						ENST00000372169.2																			0				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	97						c.(7990-7992)gCc>gTc		senataxin							186	194	191					9																	135139756		2203	4300	6503	SO:0001583	missense	23064				cell death|double-strand break repair|RNA processing	cytoplasm|nucleolus|nucleoplasm	ATP binding|DNA helicase activity	g.chr9:135139756G>A	AB014525	CCDS6947.1	9q34	2014-09-17	2005-11-29	2005-11-29	ENSG00000107290	ENSG00000107290			445	protein-coding gene	gene with protein product		608465	"amyotrophic lateral sclerosis 4", "spinocerebellar ataxia, recessive, non-Friedreich type 1"	ALS4, SCAR1		9497266, 11022012	Standard	NM_015046		Approved	KIAA0625, AOA2	uc004cbk.3	Q7Z333	OTTHUMG00000020834	ENST00000224140.5:c.7904C>T	9.37:g.135139756G>A	ENSP00000224140:p.Ala2635Val					SETX_ENST00000477049.1_5'UTR|SETX_ENST00000224140.5_Missense_Mutation_p.A2635V|SETX_ENST00000393220.1_Missense_Mutation_p.A2602V	p.A2664V			Q7Z333	SETX_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)	27	8173	-		Myeloproliferative disorder(178;0.204)	2635			Necessary for nuclear localization.		A2A396|B2RPB2|B5ME16|C9JQ10|O75120|Q3KQX4|Q5JUJ1|Q68DW5|Q6AZD7|Q7Z3J6|Q8WX33|Q9H9D1|Q9NVP9	Missense_Mutation	SNP	ENST00000224140.5	37	c.7991C>T	CCDS6947.1	.	.	.	.	.	.	.	.	.	.	G	10.38	1.334360	0.24253	.	.	ENSG00000107290	ENST00000224140;ENST00000436441;ENST00000372169;ENST00000393220	D;D;D;D	0.89810	-2.01;-2.57;-2.06;-1.69	5.57	-1.56	0.08532	.	4.545380	0.00166	N	0.000014	T	0.75199	0.3817	N	0.08118	0	0.09310	N	1	B;B;B	0.16802	0.019;0.006;0.019	B;B;B	0.12837	0.008;0.002;0.008	T	0.64067	-0.6494	10	0.24483	T	0.36	.	3.0352	0.06119	0.1445:0.1077:0.4188:0.329	.	2602;2635;2664	Q7Z333-3;Q7Z333;Q7Z333-4	.;SETX_HUMAN;.	V	2635;906;2664;2602	ENSP00000224140:A2635V;ENSP00000409143:A906V;ENSP00000361242:A2664V;ENSP00000376913:A2602V	ENSP00000224140:A2635V	A	-	2	0	SETX	134129577	0.000000	0.05858	0.031000	0.17742	0.241000	0.25554	0.311000	0.19380	0.030000	0.15379	0.491000	0.48974	GCC		0.607	SETX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054774.3	NM_015046		104	129	0	0	0	1	0	104	129					A	135139756	G	A	135139756	3	1	435	1	0	0	0	0	1	0	0	0	14141	1203	42	3	133	3	SETX	9	135139756	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	66392	135139756	6073675	4491	25416											
SETX	23064	broad.mit.edu	37	chr9	135161826	135161826	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttacctctttaattttagaaGcaagttcctgcctttcctta	9	18	4	10	0	1	1	0	0	1	1	3	1	3	1	4	0	3	2	4	0	6	8			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:135161826G>T	ENST00000224140.5	-	18	6562	c.6380C>A	c.(6379-6381)gCt>gAt	p.A2127D	SETX_ENST00000393220.1_Missense_Mutation_p.A2127D|SETX_ENST00000372169.2_Missense_Mutation_p.A2127D	NM_015046.5	NP_055861.3	Q7Z333	SETX_HUMAN	senataxin	2127					cell death (GO:0008219)|circadian rhythm (GO:0007623)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|RNA processing (GO:0006396)|termination of RNA polymerase II transcription (GO:0006369)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	97		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)		AATTTTAGAAGCAAGTTCCTG	0.294																																						ENST00000372169.2																			0				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	97						c.(6379-6381)gCt>gAt		senataxin							77	83	81					9																	135161826		2202	4299	6501	SO:0001583	missense	23064				cell death|double-strand break repair|RNA processing	cytoplasm|nucleolus|nucleoplasm	ATP binding|DNA helicase activity	g.chr9:135161826G>T	AB014525	CCDS6947.1	9q34	2014-09-17	2005-11-29	2005-11-29	ENSG00000107290	ENSG00000107290			445	protein-coding gene	gene with protein product		608465	"amyotrophic lateral sclerosis 4", "spinocerebellar ataxia, recessive, non-Friedreich type 1"	ALS4, SCAR1		9497266, 11022012	Standard	NM_015046		Approved	KIAA0625, AOA2	uc004cbk.3	Q7Z333	OTTHUMG00000020834	ENST00000224140.5:c.6380C>A	9.37:g.135161826G>T	ENSP00000224140:p.Ala2127Asp					SETX_ENST00000224140.5_Missense_Mutation_p.A2127D|SETX_ENST00000393220.1_Missense_Mutation_p.A2127D	p.A2127D			Q7Z333	SETX_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)	18	6562	-		Myeloproliferative disorder(178;0.204)	2127					A2A396|B2RPB2|B5ME16|C9JQ10|O75120|Q3KQX4|Q5JUJ1|Q68DW5|Q6AZD7|Q7Z3J6|Q8WX33|Q9H9D1|Q9NVP9	Missense_Mutation	SNP	ENST00000224140.5	37	c.6380C>A	CCDS6947.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.189311	0.78789	.	.	ENSG00000107290	ENST00000224140;ENST00000436441;ENST00000372169;ENST00000393220	D;D;D;D	0.82344	-1.6;-1.6;-1.6;-1.6	5.6	5.6	0.85130	.	0.226768	0.38548	N	0.001646	D	0.87989	0.6317	L	0.42632	1.34	0.44309	D	0.997189	P;D;D	0.89917	0.55;1.0;1.0	B;D;D	0.81914	0.381;0.995;0.989	D	0.87919	0.2702	10	0.56958	D	0.05	.	16.6996	0.85345	0.0:0.0:1.0:0.0	.	2127;2127;2127	Q7Z333-3;Q7Z333;Q7Z333-4	.;SETX_HUMAN;.	D	2127;369;2127;2127	ENSP00000224140:A2127D;ENSP00000409143:A369D;ENSP00000361242:A2127D;ENSP00000376913:A2127D	ENSP00000224140:A2127D	A	-	2	0	SETX	134151647	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.717000	0.68446	2.788000	0.95919	0.650000	0.86243	GCT		0.294	SETX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054774.3	NM_015046		12	55	1	0	0.0931896	1	0.0936283	12	55					T	135161826	G	T	135161826	3	4	435	1	0	0	0	0	1	0	0	0	14141	971	34	5	1689	5	SETX	9	135161826	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	22070	135161826	6051605	4492	25417											
SETX	23064	broad.mit.edu	37	chr9	135176063	135176063	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acataaccagaatgatattcGtggagatcttgtatgtcatt	13	14	8	6	1	2	3	1	1	1	2	3	4	2	3	1	1	1	1	1	1	4	6	rs117410554		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:135176063G>A	ENST00000224140.5	-	12	5684	c.5502C>T	c.(5500-5502)caC>caT	p.H1834H	SETX_ENST00000393220.1_Silent_p.H1834H|SETX_ENST00000372169.2_Silent_p.H1834H	NM_015046.5	NP_055861.3	Q7Z333	SETX_HUMAN	senataxin	1834					cell death (GO:0008219)|circadian rhythm (GO:0007623)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|RNA processing (GO:0006396)|termination of RNA polymerase II transcription (GO:0006369)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	97		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)		AATGATATTCGTGGAGATCTT	0.358													A|||	1	0.000199681	0	0	5008	,	,		16367	0		0.001	False		,,,				2504	0					ENST00000372169.2																			0				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	97						c.(5500-5502)caC>caT		senataxin							258	238	245					9																	135176063		2203	4300	6503	SO:0001819	synonymous_variant	23064				cell death|double-strand break repair|RNA processing	cytoplasm|nucleolus|nucleoplasm	ATP binding|DNA helicase activity	g.chr9:135176063G>A	AB014525	CCDS6947.1	9q34	2014-09-17	2005-11-29	2005-11-29	ENSG00000107290	ENSG00000107290			445	protein-coding gene	gene with protein product		608465	"amyotrophic lateral sclerosis 4", "spinocerebellar ataxia, recessive, non-Friedreich type 1"	ALS4, SCAR1		9497266, 11022012	Standard	NM_015046		Approved	KIAA0625, AOA2	uc004cbk.3	Q7Z333	OTTHUMG00000020834	ENST00000224140.5:c.5502C>T	9.37:g.135176063G>A						SETX_ENST00000224140.5_Silent_p.H1834H|SETX_ENST00000393220.1_Silent_p.H1834H	p.H1834H			Q7Z333	SETX_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)	12	5684	-		Myeloproliferative disorder(178;0.204)	1834					A2A396|B2RPB2|B5ME16|C9JQ10|O75120|Q3KQX4|Q5JUJ1|Q68DW5|Q6AZD7|Q7Z3J6|Q8WX33|Q9H9D1|Q9NVP9	Silent	SNP	ENST00000224140.5	37	c.5502C>T	CCDS6947.1																																																																																				0.358	SETX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054774.3	NM_015046		46	59	0	0	0	1	0	46	59					A	135176063	G	A	135176063	2	1	435	1	0	0	0	0	0	0	0	1	14141	1136	40	1		1	SETX	9	135176063	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	14237	135176063	6037368	4493	25418											
SETX	23064	broad.mit.edu	37	chr9	135204232	135204232	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catctcttgattcaggtacaGtcataagatctttaaaggga	13	13	8	7	0	4	2	2	1	2	1	5	3	4	3	0	2	1	1	0	2	4	6			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:135204232G>A	ENST00000224140.5	-	10	2935	c.2753C>T	c.(2752-2754)aCt>aTt	p.T918I	SETX_ENST00000393220.1_Missense_Mutation_p.T918I|SETX_ENST00000372169.2_Missense_Mutation_p.T918I	NM_015046.5	NP_055861.3	Q7Z333	SETX_HUMAN	senataxin	918					cell death (GO:0008219)|circadian rhythm (GO:0007623)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|RNA processing (GO:0006396)|termination of RNA polymerase II transcription (GO:0006369)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	97		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)		TTCAGGTACAGTCATAAGATC	0.368																																						ENST00000372169.2																			0				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	97						c.(2752-2754)aCt>aTt		senataxin							82	76	78					9																	135204232		2203	4300	6503	SO:0001583	missense	23064				cell death|double-strand break repair|RNA processing	cytoplasm|nucleolus|nucleoplasm	ATP binding|DNA helicase activity	g.chr9:135204232G>A	AB014525	CCDS6947.1	9q34	2014-09-17	2005-11-29	2005-11-29	ENSG00000107290	ENSG00000107290			445	protein-coding gene	gene with protein product		608465	"amyotrophic lateral sclerosis 4", "spinocerebellar ataxia, recessive, non-Friedreich type 1"	ALS4, SCAR1		9497266, 11022012	Standard	NM_015046		Approved	KIAA0625, AOA2	uc004cbk.3	Q7Z333	OTTHUMG00000020834	ENST00000224140.5:c.2753C>T	9.37:g.135204232G>A	ENSP00000224140:p.Thr918Ile					SETX_ENST00000224140.5_Missense_Mutation_p.T918I|SETX_ENST00000393220.1_Missense_Mutation_p.T918I	p.T918I			Q7Z333	SETX_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)	10	2935	-		Myeloproliferative disorder(178;0.204)	918					A2A396|B2RPB2|B5ME16|C9JQ10|O75120|Q3KQX4|Q5JUJ1|Q68DW5|Q6AZD7|Q7Z3J6|Q8WX33|Q9H9D1|Q9NVP9	Missense_Mutation	SNP	ENST00000224140.5	37	c.2753C>T	CCDS6947.1	.	.	.	.	.	.	.	.	.	.	G	13.42	2.232919	0.39498	.	.	ENSG00000107290	ENST00000224140;ENST00000372169;ENST00000393220	D;D;D	0.86769	-2.09;-2.17;-1.79	5.63	2.31	0.28768	.	7739.210000	0.00166	N	0.000000	T	0.78007	0.4216	L	0.29908	0.895	0.09310	N	1	P;P;P	0.38078	0.617;0.483;0.617	B;B;B	0.30029	0.11;0.051;0.11	T	0.67696	-0.5604	10	0.23302	T	0.38	.	5.7923	0.18367	0.18:0.0:0.6312:0.1888	.	918;918;918	Q7Z333-3;Q7Z333;Q7Z333-4	.;SETX_HUMAN;.	I	918	ENSP00000224140:T918I;ENSP00000361242:T918I;ENSP00000376913:T918I	ENSP00000224140:T918I	T	-	2	0	SETX	134194053	0.003000	0.15002	0.002000	0.10522	0.366000	0.29705	0.618000	0.24373	0.830000	0.34757	0.655000	0.94253	ACT		0.368	SETX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054774.3	NM_015046		25	44	0	0	0	1	0	25	44					A	135204232	G	A	135204232	3	1	435	1	0	0	0	0	1	0	0	0	14141	1029	36	3	5348	3	SETX	9	135204232	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	28169	135204232	6009199	4494	25419											
SETX	23064	broad.mit.edu	37	chr9	135204624	135204624	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acatgtgataactttgcacaGatttcatctttctgtacctt	10	17	5	9	0	3	2	1	1	2	1	3	2	3	2	1	0	3	2	1	0	2	6			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:135204624G>T	ENST00000224140.5	-	10	2543	c.2361C>A	c.(2359-2361)atC>atA	p.I787I	SETX_ENST00000393220.1_Silent_p.I787I|SETX_ENST00000372169.2_Silent_p.I787I	NM_015046.5	NP_055861.3	Q7Z333	SETX_HUMAN	senataxin	787					cell death (GO:0008219)|circadian rhythm (GO:0007623)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|RNA processing (GO:0006396)|termination of RNA polymerase II transcription (GO:0006369)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	97		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)		ACTTTGCACAGATTTCATCTT	0.328																																						ENST00000372169.2																			0				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	97						c.(2359-2361)atC>atA		senataxin							84	80	81					9																	135204624		2203	4299	6502	SO:0001819	synonymous_variant	23064				cell death|double-strand break repair|RNA processing	cytoplasm|nucleolus|nucleoplasm	ATP binding|DNA helicase activity	g.chr9:135204624G>T	AB014525	CCDS6947.1	9q34	2014-09-17	2005-11-29	2005-11-29	ENSG00000107290	ENSG00000107290			445	protein-coding gene	gene with protein product		608465	"amyotrophic lateral sclerosis 4", "spinocerebellar ataxia, recessive, non-Friedreich type 1"	ALS4, SCAR1		9497266, 11022012	Standard	NM_015046		Approved	KIAA0625, AOA2	uc004cbk.3	Q7Z333	OTTHUMG00000020834	ENST00000224140.5:c.2361C>A	9.37:g.135204624G>T						SETX_ENST00000224140.5_Silent_p.I787I|SETX_ENST00000393220.1_Silent_p.I787I	p.I787I			Q7Z333	SETX_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)	10	2543	-		Myeloproliferative disorder(178;0.204)	787					A2A396|B2RPB2|B5ME16|C9JQ10|O75120|Q3KQX4|Q5JUJ1|Q68DW5|Q6AZD7|Q7Z3J6|Q8WX33|Q9H9D1|Q9NVP9	Silent	SNP	ENST00000224140.5	37	c.2361C>A	CCDS6947.1																																																																																				0.328	SETX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054774.3	NM_015046		21	43	1	0	8.34094e-07	1	8.70022e-07	21	43					T	135204624	G	T	135204624	2	4	435	1	0	0	0	0	0	0	0	1	14141	932	33	5		5	SETX	9	135204624	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	392	135204624	6008807	4495	25420											
GTF3C4	9329	broad.mit.edu	37	chr9	135554266	135554266	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cacaattcccatgtcacaggCcttcactcactgccaattgt	10	11	5	15	0	3	0	3	0	0	0	4	0	4	0	3	1	1	0	3	1	2	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:135554266C>T	ENST00000372146.4	+	2	1824	c.1260C>T	c.(1258-1260)ggC>ggT	p.G420G	GTF3C4_ENST00000483873.2_Splice_Site_p.A141V	NM_012204.2	NP_036336.2	Q9UKN8	TF3C4_HUMAN	general transcription factor IIIC, polypeptide 4, 90kDa	420					5S class rRNA transcription from RNA polymerase III type 1 promoter (GO:0042791)|gene expression (GO:0010467)|histone acetylation (GO:0016573)|positive regulation of catalytic activity (GO:0043085)|transcription from RNA polymerase III promoter (GO:0006383)|transcription initiation from RNA polymerase III promoter (GO:0006384)|transcription, DNA-templated (GO:0006351)|tRNA transcription from RNA polymerase III promoter (GO:0042797)	nucleoplasm (GO:0005654)|transcription factor TFIIIC complex (GO:0000127)	DNA binding (GO:0003677)|enzyme activator activity (GO:0008047)|histone acetyltransferase activity (GO:0004402)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1)	20				OV - Ovarian serous cystadenocarcinoma(145;8.15e-07)|Epithelial(140;2.6e-05)		ATGTCACAGGCCTTCACTCAC	0.468																																					Pancreas(142;417 1875 11086 31973 47667)	ENST00000483873.2																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1)	20						c.e3-1		general transcription factor IIIC, polypeptide 4, 90kDa							126	120	122					9																	135554266		2203	4300	6503	SO:0001819	synonymous_variant	9329				transcription initiation from RNA polymerase III promoter	transcription factor TFIIIC complex	DNA binding|enzyme activator activity|histone acetyltransferase activity|protein binding	g.chr9:135554266C>T	AF142328	CCDS6953.1	9q34.3	2011-07-01	2002-08-29		ENSG00000125484	ENSG00000125484		"Chromatin-modifying enzymes / K-acetyltransferases", "General transcription factors"	4667	protein-coding gene	gene with protein product		604892	"general transcription factor IIIC, polypeptide 4 (90kD)"			10523658	Standard	NM_012204		Approved	TFIIIC90, KAT12	uc010mzv.3	Q9UKN8	OTTHUMG00000020842	ENST00000372146.4:c.1260C>T	9.37:g.135554266C>T						GTF3C4_ENST00000372146.4_Silent_p.G420G	p.A141_splice			Q9UKN8	TF3C4_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;8.15e-07)|Epithelial(140;2.6e-05)	3	986	+			0					Q5VZJ7	Splice_Site	SNP	ENST00000372146.4	37	c.420_splice	CCDS6953.1																																																																																				0.468	GTF3C4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054792.1			12	82	0	0	0	1	0	12	82					T	135554266	C	T	135554266	2	4	435	1	0	0	0	0	0	0	0	1	6875	726	26	3		3	GTF3C4	9	135554266	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	349642	135554266	5659165	4496	25421											
C9orf98	158067	broad.mit.edu	37	chr9	135702253	135702253	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgtttaccctggtagaagaCgtccacacatggctggtcag	9	10	12	10	1	1	2	1	0	0	2	2	2	2	2	2	3	1	3	2	3	3	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:135702253C>T	ENST00000298545.3	-	8	1266	c.745G>A	c.(745-747)Gtc>Atc	p.V249I	AK8_ENST00000477396.1_5'UTR	NM_152572.2	NP_689785.1	Q96MA6	KAD8_HUMAN	adenylate kinase 8	249	Adenylate kinase 1.				nucleoside diphosphate phosphorylation (GO:0006165)|nucleoside triphosphate biosynthetic process (GO:0009142)|ventricular system development (GO:0021591)	cytoplasm (GO:0005737)	adenylate kinase activity (GO:0004017)|ATP binding (GO:0005524)|cytidylate kinase activity (GO:0004127)|nucleoside diphosphate kinase activity (GO:0004550)			NS(1)|kidney(2)|large_intestine(4)|lung(11)|pancreas(2)|prostate(1)|urinary_tract(2)	23						TGGTAGAAGACGTCCACACAT	0.547																																						ENST00000298545.3																			0				NS(1)|kidney(2)|large_intestine(4)|lung(11)|pancreas(2)|prostate(1)|urinary_tract(2)	23						c.(745-747)Gtc>Atc		adenylate kinase 8							132	114	120					9																	135702253		2203	4300	6503	SO:0001583	missense	158067					cytosol	adenylate kinase activity|ATP binding|cytidylate kinase activity	g.chr9:135702253C>T	AK093446	CCDS6954.1	9q34.13	2013-04-29	2010-12-07	2010-12-07	ENSG00000165695	ENSG00000165695	2.7.4.3	"Adenylate kinases"	26526	protein-coding gene	gene with protein product		615365	"chromosome 9 open reading frame 98"	C9orf98		21080915	Standard	NM_152572		Approved	FLJ32704	uc004cbu.1	Q96MA6	OTTHUMG00000021009	ENST00000298545.3:c.745G>A	9.37:g.135702253C>T	ENSP00000298545:p.Val249Ile					AK8_ENST00000477396.1_5'UTR	p.V249I	NM_152572.2	NP_689785.1	Q96MA6	KAD8_HUMAN			8	1266	-			249					A8K821|Q8N9W9	Missense_Mutation	SNP	ENST00000298545.3	37	c.745G>A	CCDS6954.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.169707	0.78452	.	.	ENSG00000165695	ENST00000298545	T	0.46819	0.86	5.13	5.13	0.70059	.	0.059881	0.64402	D	0.000004	T	0.49847	0.1581	L	0.52759	1.655	0.43156	D	0.994935	D	0.54964	0.969	P	0.46253	0.509	T	0.52734	-0.8536	10	0.45353	T	0.12	-43.5785	17.5823	0.87972	0.0:1.0:0.0:0.0	.	249	Q96MA6	KAD8_HUMAN	I	249	ENSP00000298545:V249I	ENSP00000298545:V249I	V	-	1	0	AK8	134692074	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	4.268000	0.58883	2.392000	0.81423	0.462000	0.41574	GTC		0.547	AK8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055413.1	NM_152572		27	53	0	0	0	1	0	27	53					T	135702253	C	T	135702253	3	4	435	1	0	0	0	0	1	0	0	0	2509	536	19	1	718	1	C9orf98	9	135702253	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	147987	135702253	5511178	4497	25422											
GFI1B	8328	broad.mit.edu	37	chr9	135863747	135863747	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcagccttcctggagcactcCgtcagcctgtacggcagtcc	6	9	10	16	2	2	0	2	0	0	0	5	1	5	1	5	2	4	3	5	2	1	2	rs377198808		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:135863747C>T	ENST00000339463.3	+	8	1221	c.402C>T	c.(400-402)tcC>tcT	p.S134S	GFI1B_ENST00000372124.1_Silent_p.S134S|GFI1B_ENST00000372122.1_Silent_p.S134S|GFI1B_ENST00000534944.1_Silent_p.S134S|GFI1B_ENST00000372123.1_Silent_p.S134S|GFI1B_ENST00000450530.1_Silent_p.S134S			Q5VTD9	GFI1B_HUMAN	growth factor independent 1B transcription repressor	134	Interaction with ARIH2.				cell proliferation (GO:0008283)|chromatin modification (GO:0016568)|multicellular organismal development (GO:0007275)|negative regulation of histone H3-K4 methylation (GO:0051572)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of histone H3-K9 methylation (GO:0051574)|regulation of erythrocyte differentiation (GO:0045646)|transcription from RNA polymerase II promoter (GO:0006366)	nuclear matrix (GO:0016363)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II transcription factor binding (GO:0001085)			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)	21				OV - Ovarian serous cystadenocarcinoma(145;9.04e-07)|Epithelial(140;1.17e-05)		TGGAGCACTCCGTCAGCCTGT	0.612													C|||	1	0.000199681	0	0.0014	5008	,	,		15339	0		0	False		,,,				2504	0					ENST00000339463.3																			0				central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)	21						c.(400-402)tcC>tcT		growth factor independent 1B transcription repressor		C	,	0,4406		0,0,2203	78	60	66		402,402	-9.1	0.8	9		66	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	GFI1B	NM_001135031.1,NM_004188.4	,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,	134/285,134/331	135863747	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	8328				cell proliferation|chromatin modification|multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle|transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|zinc ion binding	g.chr9:135863747C>T	AF081946	CCDS6957.1, CCDS48049.1	9q34.13	2014-09-17	2007-10-04		ENSG00000165702	ENSG00000165702		"Zinc fingers, C2H2-type"	4238	protein-coding gene	gene with protein product		604383	"growth factor independent 1B (potential regulator of CDKN1A, translocated in CML)"			9878267	Standard	NM_001135031		Approved		uc004ccg.3	Q5VTD9	OTTHUMG00000020848	ENST00000339463.3:c.402C>T	9.37:g.135863747C>T						GFI1B_ENST00000372124.1_Silent_p.S134S|GFI1B_ENST00000372123.1_Silent_p.S134S|GFI1B_ENST00000534944.1_Silent_p.S134S|GFI1B_ENST00000372122.1_Silent_p.S134S|GFI1B_ENST00000450530.1_Silent_p.S134S	p.S134S			Q5VTD9	GFI1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;9.04e-07)|Epithelial(140;1.17e-05)	8	1221	+			134			Interaction with ARIH2.		O95270|Q5VTD8|Q6FHZ2|Q6T888	Silent	SNP	ENST00000339463.3	37	c.402C>T	CCDS6957.1																																																																																				0.612	GFI1B-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393840.1	NM_004188		14	23	0	0	0	1	0	14	23					T	135863747	C	T	135863747	2	4	435	1	0	0	0	0	0	0	0	1	6340	639	23	2		2	GFI1B	9	135863747	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	161494	135863747	5349684	4498	25423											
GFI1B	8328	broad.mit.edu	37	chr9	135863817	135863817	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	acttcagcctccgctactccCcaggcatggatgcgtaccac	8	8	8	17	2	1	0	1	0	0	0	3	1	3	1	5	2	4	3	5	2	2	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:135863817C>A	ENST00000339463.3	+	8	1291	c.472C>A	c.(472-474)Cca>Aca	p.P158T	GFI1B_ENST00000372124.1_Missense_Mutation_p.P158T|GFI1B_ENST00000372122.1_Missense_Mutation_p.P158T|GFI1B_ENST00000534944.1_Missense_Mutation_p.P158T|GFI1B_ENST00000372123.1_Missense_Mutation_p.P158T|GFI1B_ENST00000450530.1_Missense_Mutation_p.P158T			Q5VTD9	GFI1B_HUMAN	growth factor independent 1B transcription repressor	158	Interaction with ARIH2.				cell proliferation (GO:0008283)|chromatin modification (GO:0016568)|multicellular organismal development (GO:0007275)|negative regulation of histone H3-K4 methylation (GO:0051572)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of histone H3-K9 methylation (GO:0051574)|regulation of erythrocyte differentiation (GO:0045646)|transcription from RNA polymerase II promoter (GO:0006366)	nuclear matrix (GO:0016363)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II transcription factor binding (GO:0001085)			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)	21				OV - Ovarian serous cystadenocarcinoma(145;9.04e-07)|Epithelial(140;1.17e-05)		CCGCTACTCCCCAGGCATGGA	0.637																																						ENST00000339463.3																			0				central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)	21						c.(472-474)Cca>Aca		growth factor independent 1B transcription repressor							55	42	47					9																	135863817		2203	4300	6503	SO:0001583	missense	8328				cell proliferation|chromatin modification|multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle|transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|zinc ion binding	g.chr9:135863817C>A	AF081946	CCDS6957.1, CCDS48049.1	9q34.13	2014-09-17	2007-10-04		ENSG00000165702	ENSG00000165702		"Zinc fingers, C2H2-type"	4238	protein-coding gene	gene with protein product		604383	"growth factor independent 1B (potential regulator of CDKN1A, translocated in CML)"			9878267	Standard	NM_001135031		Approved		uc004ccg.3	Q5VTD9	OTTHUMG00000020848	ENST00000339463.3:c.472C>A	9.37:g.135863817C>A	ENSP00000344782:p.Pro158Thr					GFI1B_ENST00000372124.1_Missense_Mutation_p.P158T|GFI1B_ENST00000372123.1_Missense_Mutation_p.P158T|GFI1B_ENST00000534944.1_Missense_Mutation_p.P158T|GFI1B_ENST00000372122.1_Missense_Mutation_p.P158T|GFI1B_ENST00000450530.1_Missense_Mutation_p.P158T	p.P158T			Q5VTD9	GFI1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;9.04e-07)|Epithelial(140;1.17e-05)	8	1291	+			158			Interaction with ARIH2.		O95270|Q5VTD8|Q6FHZ2|Q6T888	Missense_Mutation	SNP	ENST00000339463.3	37	c.472C>A	CCDS6957.1	.	.	.	.	.	.	.	.	.	.	C	13.22	2.171412	0.38315	.	.	ENSG00000165702	ENST00000372124;ENST00000339463;ENST00000450530;ENST00000534944;ENST00000372123;ENST00000372122	T;T;T;T;T;T	0.11169	3.0;2.8;2.8;3.0;3.0;2.8	5.08	5.08	0.68730	.	0.062211	0.64402	D	0.000005	T	0.19685	0.0473	M	0.72894	2.215	0.58432	D	0.999992	D;B	0.61080	0.989;0.126	P;B	0.56700	0.804;0.058	T	0.13361	-1.0512	10	0.02654	T	1	-26.5384	10.9663	0.47414	0.0:0.904:0.0:0.096	.	158;158	Q5VTD9-2;Q5VTD9	.;GFI1B_HUMAN	T	158	ENSP00000361197:P158T;ENSP00000344782:P158T;ENSP00000409546:P158T;ENSP00000446134:P158T;ENSP00000361196:P158T;ENSP00000361195:P158T	ENSP00000344782:P158T	P	+	1	0	GFI1B	134853638	0.995000	0.38212	0.948000	0.38648	0.593000	0.36681	3.519000	0.53458	2.334000	0.79466	0.563000	0.77884	CCA		0.637	GFI1B-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393840.1	NM_004188		8	17	1	0	7.48243e-07	1	7.8103e-07	8	17					A	135863817	C	A	135863817	3	1	435	1	0	0	0	0	1	0	0	0	6340	623	22	5	482	5	GFI1B	9	135863817	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	70	135863817	5349614	4499	25424											
GBGT1	26301	broad.mit.edu	37	chr9	136030608	136030608	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cccaatggtcaggttcagtgGctggtagatgtgctgcagaa	9	10	14	8	0	2	2	2	0	0	2	2	2	2	2	1	4	2	5	1	4	3	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:136030608G>A	ENST00000372040.3	-	6	627	c.316C>T	c.(316-318)Cca>Tca	p.P106S	RALGDS_ENST00000542690.1_Missense_Mutation_p.A118V|GBGT1_ENST00000372038.3_Missense_Mutation_p.A118V|GBGT1_ENST00000472281.1_5'UTR|GBGT1_ENST00000372043.3_Missense_Mutation_p.P106S|GBGT1_ENST00000540636.1_Missense_Mutation_p.P89S	NM_001282629.1	NP_001269558.1	Q8N5D6	GBGT1_HUMAN	globoside alpha-1,3-N-acetylgalactosaminyltransferase 1	106					glycolipid biosynthetic process (GO:0009247)|protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	globoside alpha-N-acetylgalactosaminyltransferase activity (GO:0047277)|metal ion binding (GO:0046872)			breast(2)|endometrium(1)|kidney(4)|lung(2)|skin(1)	10				OV - Ovarian serous cystadenocarcinoma(145;3.49e-06)|Epithelial(140;2.59e-05)		AGGTTCAGTGGCTGGTAGATG	0.602																																						ENST00000542690.1										T					CIITA		"PMBL, Hodgkin Lymphona, "		0				endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)	10						c.(352-354)gCc>gTc		ral guanine nucleotide dissociation stimulator							101	93	95					9																	136030608		2203	4300	6503	SO:0001583	missense	5900				nerve growth factor receptor signaling pathway|Ras protein signal transduction|regulation of small GTPase mediated signal transduction	cytosol	Ral guanyl-nucleotide exchange factor activity	g.chr9:136030608G>A	AY358175	CCDS6960.1, CCDS65175.1, CCDS65176.1	9q34.13-q34.3	2014-07-18			ENSG00000148288	ENSG00000148288		"Glycosyltransferase family 6 domain containing"	20460	protein-coding gene	gene with protein product	"Forssman glycolipid synthetase (FS)", "Forssman synthetase"	606074				10506200, 8855242	Standard	NM_021996		Approved	UDP-GalNAc, A3GALNT, MGC44848, FS		Q8N5D6	OTTHUMG00000020853	ENST00000372040.3:c.316C>T	9.37:g.136030608G>A	ENSP00000361110:p.Pro106Ser					GBGT1_ENST00000372043.3_Missense_Mutation_p.P106S|GBGT1_ENST00000472281.1_5'UTR|GBGT1_ENST00000372040.3_Missense_Mutation_p.P106S|GBGT1_ENST00000540636.1_Missense_Mutation_p.P89S|GBGT1_ENST00000372038.3_Missense_Mutation_p.A118V	p.A118V			Q12967	GNDS_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;3.66e-06)|Epithelial(140;2.77e-05)	6	633	-			0			N-terminal Ras-GEF.		A8K633|B2RA95|B7Z8S5|Q45F07|Q5T7U9|Q5T7V1|Q8N2K4|Q9UKI5	Missense_Mutation	SNP	ENST00000372040.3	37	c.353C>T	CCDS6960.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	9.296|9.296	1.051857|1.051857	0.19827|0.19827	.|.	.|.	ENSG00000160271;ENSG00000148288|ENSG00000148288	ENST00000542690;ENST00000372038|ENST00000372043;ENST00000372040;ENST00000540636	T;T|T;T;T	0.37584|0.01192	1.81;1.19|5.2;5.2;5.2	4.98|4.98	4.98|4.98	0.66077|0.66077	.|.	.|0.303301	.|0.31392	.|N	.|0.007734	T|T	0.03434|0.03434	0.0099|0.0099	M|M	0.70595|0.70595	2.14|2.14	0.09310|0.09310	N|N	1|1	P|P;P	0.45531|0.46064	0.86|0.872;0.872	B|P;P	0.44044|0.51101	0.439|0.659;0.659	T|T	0.38908|0.38908	-0.9639|-0.9639	9|10	0.87932|0.30854	D|T	0|0.27	-11.6346|-11.6346	12.367|12.367	0.55234|0.55234	0.0:0.0:0.8316:0.1684|0.0:0.0:0.8316:0.1684	.|.	118|89;106	F5H6M6|B7Z8S5;Q8N5D6	.|.;GBGT1_HUMAN	V|S	118|106;106;89	ENSP00000437518:A118V;ENSP00000361108:A118V|ENSP00000361113:P106S;ENSP00000361110:P106S;ENSP00000437663:P89S	ENSP00000361108:A118V|ENSP00000361110:P106S	A|P	-|-	2|1	0|0	GBGT1;RALGDS|GBGT1	135020429|135020429	0.168000|0.168000	0.22989|0.22989	0.715000|0.715000	0.30552|0.30552	0.022000|0.022000	0.10575|0.10575	2.251000|2.251000	0.43187|0.43187	2.294000|2.294000	0.77228|0.77228	0.561000|0.561000	0.74099|0.74099	GCC|CCA		0.602	GBGT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054815.1	NM_021996		8	17	0	0	0	1	0	8	17					A	136030608	G	A	136030608	3	1	435	1	0	0	0	0	1	0	0	0	6272	1203	42	3	735	3	GBGT1	9	136030608	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	166791	136030608	5182823	4500	25425											
OBP2B	29989	broad.mit.edu	37	chr9	136081320	136081320	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcaccctagtgttcgggaacGcagcttcctgcagagaccaa	10	8	10	13	2	1	1	1	0	0	1	3	3	2	2	3	1	3	4	3	1	3	3	rs576469540		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:136081320G>A	ENST00000372034.3	-	6	539	c.498C>T	c.(496-498)tgC>tgT	p.C166C	OBP2B_ENST00000461961.1_5'UTR|OBP2B_ENST00000372032.2_3'UTR	NM_014581.2	NP_055396.1	Q9NPH6	OBP2B_HUMAN	odorant binding protein 2B	166					chemosensory behavior (GO:0007635)|sensory perception of smell (GO:0007608)|transport (GO:0006810)	extracellular region (GO:0005576)	odorant binding (GO:0005549)			central_nervous_system(2)|large_intestine(1)|lung(3)|skin(1)	7				OV - Ovarian serous cystadenocarcinoma(145;3.41e-06)|Epithelial(140;1.88e-05)		GTTCGGGAACGCAGCTTCCTG	0.622													G|||	1	0.000199681	0	0	5008	,	,		17130	0		0.001	False		,,,				2504	0					ENST00000372034.3																			0				central_nervous_system(2)|large_intestine(1)|lung(3)|skin(1)	7						c.(496-498)tgC>tgT		odorant binding protein 2B							188	172	177					9																	136081320		2203	4300	6503	SO:0001819	synonymous_variant	29989				chemosensory behavior|sensory perception of smell	extracellular region	odorant binding|transporter activity	g.chr9:136081320G>A	AJ251026	CCDS6961.1	9q34	2014-01-22			ENSG00000171102	ENSG00000171102		"Lipocalins"	23381	protein-coding gene	gene with protein product		604606					Standard	NM_001288987		Approved	hOBPIIb, LCN14	uc004ccz.3	Q9NPH6	OTTHUMG00000020860	ENST00000372034.3:c.498C>T	9.37:g.136081320G>A						OBP2B_ENST00000461961.1_5'UTR|OBP2B_ENST00000372032.2_3'UTR	p.C166C	NM_014581.2	NP_055396.1	Q9NPH6	OBP2B_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;3.41e-06)|Epithelial(140;1.88e-05)	6	539	-			166					Q5VSP6|Q9NY51|Q9NY52	Silent	SNP	ENST00000372034.3	37	c.498C>T	CCDS6961.1																																																																																				0.622	OBP2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054851.1	NM_014581		5	103	0	0	0	1	0	5	103					A	136081320	G	A	136081320	2	1	435	1	0	0	0	0	0	0	0	1	10811	1079	38	1		1	OBP2B	9	136081320	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	50712	136081320	5132111	4501	25426											
OBP2B	29989	broad.mit.edu	37	chr9	136083896	136083896	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caacttcccaccgcccagggCtgtcaccttcactggggaca	8	7	9	17	1	2	0	2	0	0	0	3	1	3	1	4	3	1	1	4	3	1	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:136083896C>A	ENST00000372034.3	-	2	207	c.166G>T	c.(166-168)Gcc>Tcc	p.A56S	OBP2B_ENST00000461961.1_Intron|OBP2B_ENST00000372032.2_Intron	NM_014581.2	NP_055396.1	Q9NPH6	OBP2B_HUMAN	odorant binding protein 2B	56					chemosensory behavior (GO:0007635)|sensory perception of smell (GO:0007608)|transport (GO:0006810)	extracellular region (GO:0005576)	odorant binding (GO:0005549)			central_nervous_system(2)|large_intestine(1)|lung(3)|skin(1)	7				OV - Ovarian serous cystadenocarcinoma(145;3.41e-06)|Epithelial(140;1.88e-05)		CCGCCCAGGGCTGTCACCTTC	0.617																																						ENST00000372034.3																			0				central_nervous_system(2)|large_intestine(1)|lung(3)|skin(1)	7						c.(166-168)Gcc>Tcc		odorant binding protein 2B							96	88	90					9																	136083896		2203	4300	6503	SO:0001583	missense	29989				chemosensory behavior|sensory perception of smell	extracellular region	odorant binding|transporter activity	g.chr9:136083896C>A	AJ251026	CCDS6961.1	9q34	2014-01-22			ENSG00000171102	ENSG00000171102		"Lipocalins"	23381	protein-coding gene	gene with protein product		604606					Standard	NM_001288987		Approved	hOBPIIb, LCN14	uc004ccz.3	Q9NPH6	OTTHUMG00000020860	ENST00000372034.3:c.166G>T	9.37:g.136083896C>A	ENSP00000361104:p.Ala56Ser					OBP2B_ENST00000461961.1_Intron|OBP2B_ENST00000372032.2_Intron	p.A56S	NM_014581.2	NP_055396.1	Q9NPH6	OBP2B_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;3.41e-06)|Epithelial(140;1.88e-05)	2	207	-			56					Q5VSP6|Q9NY51|Q9NY52	Missense_Mutation	SNP	ENST00000372034.3	37	c.166G>T	CCDS6961.1	.	.	.	.	.	.	.	.	.	.	C	13.15	2.151646	0.38021	.	.	ENSG00000171102	ENST00000372034	T	0.08720	3.06	2.31	-0.0417	0.13866	Calycin-like (1);Lipocalin/cytosolic fatty-acid binding protein domain (1);Calycin (1);	0.734923	0.11686	N	0.539367	T	0.13457	0.0326	M	0.63428	1.95	0.09310	N	0.999999	D	0.54397	0.966	P	0.56343	0.796	T	0.22487	-1.0215	10	0.21540	T	0.41	-12.5258	2.3884	0.04372	0.2922:0.5191:0.0:0.1887	.	56	Q9NPH6	OBP2B_HUMAN	S	56	ENSP00000361104:A56S	ENSP00000361104:A56S	A	-	1	0	OBP2B	135073717	0.000000	0.05858	0.027000	0.17364	0.156000	0.22039	-0.138000	0.10374	0.280000	0.22209	-0.350000	0.07774	GCC		0.617	OBP2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054851.1	NM_014581		9	7	1	0	2.17888e-05	1	2.24846e-05	9	7					A	136083896	C	A	136083896	3	1	435	1	0	0	0	0	1	0	0	0	10811	797	28	5	366	5	OBP2B	9	136083896	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	2576	136083896	5129535	4502	25427											
SURF6	6838	broad.mit.edu	37	chr9	136198745	136198745	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccaggtcctgcggcaggatgCggcccttcttgcgggctctg	3	9	15	14	3	2	0	0	0	2	0	3	1	3	1	3	5	3	2	3	5	0	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:136198745C>T	ENST00000372022.4	-	5	1311	c.1046G>A	c.(1045-1047)cGc>cAc	p.R349H	SURF6_ENST00000468290.1_5'UTR	NM_006753.4	NP_006744.2	O75683	SURF6_HUMAN	surfeit 6	349					ribosome biogenesis (GO:0042254)	granular component (GO:0001652)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(1)|large_intestine(5)|lung(5)|ovary(1)	12				OV - Ovarian serous cystadenocarcinoma(145;1.16e-06)|Epithelial(140;8.34e-06)|all cancers(34;7.08e-05)		CGGCAGGATGCGGCCCTTCTT	0.697																																						ENST00000372022.4																			0				endometrium(1)|large_intestine(5)|lung(5)|ovary(1)	12						c.(1045-1047)cGc>cAc		surfeit 6							12	13	13					9																	136198745		2118	4174	6292	SO:0001583	missense	6838					granular component	DNA binding|RNA binding	g.chr9:136198745C>T	AF186772	CCDS6962.1	9q33-q34	2010-07-06			ENSG00000148296	ENSG00000148296			11478	protein-coding gene	gene with protein product	"surfeit locus protein 6"	185642				9740673, 15629442	Standard	NM_006753		Approved	FLJ30322, RRP14	uc004cdb.4	O75683	OTTHUMG00000020871	ENST00000372022.4:c.1046G>A	9.37:g.136198745C>T	ENSP00000361092:p.Arg349His					SURF6_ENST00000468290.1_5'UTR	p.R349H	NM_006753.4	NP_006744.2	O75683	SURF6_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.16e-06)|Epithelial(140;8.34e-06)|all cancers(34;7.08e-05)	5	1311	-			349					Q5T8U1|Q9BRK9|Q9BTZ5|Q9UK24	Missense_Mutation	SNP	ENST00000372022.4	37	c.1046G>A	CCDS6962.1	.	.	.	.	.	.	.	.	.	.	C	32	5.168322	0.94768	.	.	ENSG00000148296	ENST00000372022	T	0.17370	2.28	5.0	5.0	0.66597	.	0.053502	0.64402	D	0.000001	T	0.48095	0.1481	M	0.86178	2.8	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.56541	-0.7962	10	0.87932	D	0	-11.9117	17.2642	0.87081	0.0:1.0:0.0:0.0	.	349	O75683	SURF6_HUMAN	H	349	ENSP00000361092:R349H	ENSP00000361092:R349H	R	-	2	0	SURF6	135188566	1.000000	0.71417	1.000000	0.80357	0.881000	0.50899	5.166000	0.64965	2.310000	0.77875	0.467000	0.42956	CGC		0.697	SURF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054905.1	NM_006753		3	7	0	0	0	1	0	3	7					T	136198745	C	T	136198745	3	4	435	1	0	0	0	0	1	0	0	0	15403	768	27	1	43	1	SURF6	9	136198745	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	114849	136198745	5014686	4503	25428											
SURF6	6838	broad.mit.edu	37	chr9	136200595	136200595	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cttctcatgcagtcgctgtcGcagaacatccagagcaaaga	12	8	9	12	2	1	3	1	0	1	3	5	3	2	3	1	0	3	4	1	0	2	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:136200595G>A	ENST00000372022.4	-	3	617	c.352C>T	c.(352-354)Cga>Tga	p.R118*	SURF6_ENST00000468290.1_5'Flank	NM_006753.4	NP_006744.2	O75683	SURF6_HUMAN	surfeit 6	118					ribosome biogenesis (GO:0042254)	granular component (GO:0001652)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(1)|large_intestine(5)|lung(5)|ovary(1)	12				OV - Ovarian serous cystadenocarcinoma(145;1.16e-06)|Epithelial(140;8.34e-06)|all cancers(34;7.08e-05)		AGTCGCTGTCGCAGAACATCC	0.642																																						ENST00000372022.4																			0				endometrium(1)|large_intestine(5)|lung(5)|ovary(1)	12						c.(352-354)Cga>Tga		surfeit 6							56	52	53					9																	136200595		2203	4300	6503	SO:0001587	stop_gained	6838					granular component	DNA binding|RNA binding	g.chr9:136200595G>A	AF186772	CCDS6962.1	9q33-q34	2010-07-06			ENSG00000148296	ENSG00000148296			11478	protein-coding gene	gene with protein product	"surfeit locus protein 6"	185642				9740673, 15629442	Standard	NM_006753		Approved	FLJ30322, RRP14	uc004cdb.4	O75683	OTTHUMG00000020871	ENST00000372022.4:c.352C>T	9.37:g.136200595G>A	ENSP00000361092:p.Arg118*						p.R118*	NM_006753.4	NP_006744.2	O75683	SURF6_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.16e-06)|Epithelial(140;8.34e-06)|all cancers(34;7.08e-05)	3	617	-			118					Q5T8U1|Q9BRK9|Q9BTZ5|Q9UK24	Nonsense_Mutation	SNP	ENST00000372022.4	37	c.352C>T	CCDS6962.1	.	.	.	.	.	.	.	.	.	.	G	37	6.161168	0.97338	.	.	ENSG00000148296	ENST00000372022	.	.	.	4.62	0.264	0.15607	.	0.059729	0.64402	D	0.000004	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.337	7.733	0.28797	0.0784:0.0:0.3959:0.5258	.	.	.	.	X	118	.	ENSP00000361092:R118X	R	-	1	2	SURF6	135190416	0.997000	0.39634	0.258000	0.24420	0.783000	0.44284	1.289000	0.33307	-0.275000	0.09219	0.655000	0.94253	CGA		0.642	SURF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054905.1	NM_006753		9	7	0	0	0	1	0	9	7					A	136200595	G	A	136200595	4	1	435	1	0	0	0	0	0	1	0	0	15403	1095	38	1	745	1	SURF6	9	136200595	Nonsense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	1850	136200595	5012836	4504	25429											
RPL7A	6130	broad.mit.edu	37	chr9	136216453	136216453	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tcacccgctttgtgaaatggCcccgctatatcaggttgcag	8	11	10	12	2	2	1	2	1	0	0	2	1	2	1	3	2	1	4	3	2	3	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:136216453C>T	ENST00000323345.6	+	3	202	c.172C>T	c.(172-174)Ccc>Tcc	p.P58S	SNORD36B_ENST00000363961.1_RNA|MED22_ENST00000491289.1_5'Flank|MED22_ENST00000471524.1_5'Flank|RPL7A_ENST00000463740.1_3'UTR|RPL7A_ENST00000315731.4_Missense_Mutation_p.A2V|SNORD36C_ENST00000516733.1_RNA|MED22_ENST00000343730.5_5'Flank|MED22_ENST00000476080.1_5'Flank|MED22_ENST00000371999.1_5'Flank|SURF1_ENST00000495952.1_5'Flank|SNORD36A_ENST00000362874.1_RNA|SNORD24_ENST00000383884.1_RNA|MED22_ENST00000344469.5_5'Flank	NM_000972.2	NP_000963.1	P62424	RL7A_HUMAN	ribosomal protein L7a	58					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|ribosome biogenesis (GO:0042254)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)|polysomal ribosome (GO:0042788)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			cervix(1)|endometrium(1)|kidney(1)|lung(3)|upper_aerodigestive_tract(1)	7				OV - Ovarian serous cystadenocarcinoma(145;4.93e-07)|Epithelial(140;4.09e-06)|all cancers(34;3.78e-05)		TGTGAAATGGCCCCGCTATAT	0.537																																						ENST00000323345.6																			0				cervix(1)|endometrium(1)|kidney(1)|lung(3)|upper_aerodigestive_tract(1)	7						c.(172-174)Ccc>Tcc		ribosomal protein L7a							51	54	53					9																	136216453		2203	4297	6500	SO:0001583	missense	6130				endocrine pancreas development|ribosome biogenesis|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|membrane fraction|polysomal ribosome	RNA binding|structural constituent of ribosome	g.chr9:136216453C>T	BC005128	CCDS6965.1	9q34	2011-04-06			ENSG00000148303	ENSG00000148303		"L ribosomal proteins"	10364	protein-coding gene	gene with protein product	"surfeit 3", "PLA-X polypeptide", "surfeit locus protein 3", "60S ribosomal protein L7a", ";", "thyroid hormone receptor uncoupling protein"	185640				2403926, 2966065	Standard	NM_000972		Approved	SURF3, TRUP, L7A	uc004cde.1	P62424	OTTHUMG00000020864	ENST00000323345.6:c.172C>T	9.37:g.136216453C>T	ENSP00000361076:p.Pro58Ser					RPL7A_ENST00000463740.1_3'UTR|RPL7A_ENST00000315731.4_Missense_Mutation_p.A2V	p.P58S	NM_000972.2	NP_000963.1	P62424	RL7A_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;4.93e-07)|Epithelial(140;4.09e-06)|all cancers(34;3.78e-05)	3	202	+			58					P11518|Q5T8U4	Missense_Mutation	SNP	ENST00000323345.6	37	c.172C>T	CCDS6965.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.87|15.87	2.961224|2.961224	0.53400|0.53400	.|.	.|.	ENSG00000148303|ENSG00000148303	ENST00000315731|ENST00000323345;ENST00000426651	T|T;T	0.64085|0.68903	-0.08|-0.36;-0.17	4.03|4.03	4.03|4.03	0.46877|0.46877	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.81039|0.81039	0.4740|0.4740	M|M	0.92970|0.92970	3.365|3.365	0.30526|0.30526	N|N	0.767913|0.767913	.|D	.|0.53151	.|0.958	.|P	.|0.52514	.|0.701	D|D	0.84323|0.84323	0.0517|0.0517	7|10	0.59425|0.72032	D|D	0.04|0.01	.|.	15.1827|15.1827	0.72972|0.72972	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|58	.|P62424	.|RL7A_HUMAN	V|S	2|58;85	ENSP00000361071:A2V|ENSP00000361076:P58S;ENSP00000416638:P85S	ENSP00000361071:A2V|ENSP00000361076:P58S	A|P	+|+	2|1	0|0	RPL7A|RPL7A	135206274|135206274	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.041000|0.041000	0.13682|0.13682	6.980000|6.980000	0.76160|0.76160	1.816000|1.816000	0.52996|0.52996	0.313000|0.313000	0.20887|0.20887	GCC|CCC		0.537	RPL7A-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054869.1	NM_000972		12	51	0	0	0	1	0	12	51					T	136216453	C	T	136216453	3	4	435	1	0	0	0	0	1	0	0	0	13600	739	26	3	182	3	RPL7A	9	136216453	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	15858	136216453	4996978	4505	25430											
C9orf96	169436	broad.mit.edu	37	chr9	136259426	136259426	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttttaccaacagacccctttCgtaagtcctggatggcccct	8	12	7	14	1	0	1	0	0	0	1	2	2	1	2	6	2	2	1	6	2	3	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:136259426C>T	ENST00000371957.3	+	8	699	c.592C>T	c.(592-594)Cgt>Tgt	p.R198C	C9orf96_ENST00000371955.1_5'UTR	NM_153710.3	NP_714921.4	Q8NE28	STKL1_HUMAN		198	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.						ATP binding (GO:0005524)|protein kinase activity (GO:0004672)	p.R198C(1)		autonomic_ganglia(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(10)|ovary(2)|stomach(2)	25				OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05)		AGACCCCTTTCGTAAGTCCTG	0.567																																						ENST00000371957.3																			1	Substitution - Missense(1)	p.R198C(1)	large_intestine(1)	autonomic_ganglia(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(10)|ovary(2)|stomach(2)	25						c.(592-594)Cgt>Tgt		chromosome 9 open reading frame 96							214	181	192					9																	136259426		2203	4300	6503	SO:0001583	missense	169436						ATP binding|protein kinase activity	g.chr9:136259426C>T																												ENST00000371957.3:c.592C>T	9.37:g.136259426C>T	ENSP00000361025:p.Arg198Cys					C9orf96_ENST00000371955.1_5'UTR	p.R198C	NM_153710.3	NP_714921.3	Q8NE28	SGK71_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05)	8	699	+			198			Protein kinase.		Q5T8U8|Q6ZMP6|Q6ZMQ5	Missense_Mutation	SNP	ENST00000371957.3	37	c.592C>T	CCDS35169.1	.	.	.	.	.	.	.	.	.	.	C	8.645	0.896782	0.17686	.	.	ENSG00000198870	ENST00000371957	T	0.65178	-0.14	4.63	1.62	0.23740	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	1.203520	0.05947	N	0.638099	T	0.45657	0.1353	N	0.21508	0.67	0.09310	N	0.999998	B	0.11235	0.004	B	0.01281	0.0	T	0.29852	-0.9998	10	0.37606	T	0.19	-2.6209	4.354	0.11169	0.1767:0.6235:0.0:0.1998	.	198	Q8NE28	SGK71_HUMAN	C	198	ENSP00000361025:R198C	ENSP00000361025:R198C	R	+	1	0	C9orf96	135249247	0.000000	0.05858	0.003000	0.11579	0.037000	0.13140	0.342000	0.19926	0.366000	0.24427	0.456000	0.33151	CGT		0.567	C9orf96-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054855.1			38	68	0	0	0	1	0	38	68					T	136259426	C	T	136259426	3	4	435	1	0	0	0	0	1	0	0	0	2508	884	31	2	622	2	C9orf96	9	136259426	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	42973	136259426	4954005	4506	25431											
ADAMTS13	11093	broad.mit.edu	37	chr9	136298780	136298780	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gacctgcctttggggggcgtGcatgtgttggtgctgacctc	3	12	16	10	1	0	1	0	1	0	0	1	2	0	1	3	4	3	3	3	4	0	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:136298780G>A	ENST00000371929.3	+	11	1708	c.1264G>A	c.(1264-1266)Gca>Aca	p.A422T	ADAMTS13_ENST00000371916.1_3'UTR|ADAMTS13_ENST00000355699.2_Missense_Mutation_p.A422T|ADAMTS13_ENST00000356589.2_Missense_Mutation_p.A391T|ADAMTS13_ENST00000485925.1_Intron|ADAMTS13_ENST00000536611.1_Missense_Mutation_p.A94T	NM_139025.3|NM_139027.3	NP_620594.1|NP_620596.2	Q76LX8	ATS13_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 13	422	TSP type-1 1. {ECO:0000255|PROSITE- ProRule:PRU00210}.				cell-matrix adhesion (GO:0007160)|glycoprotein metabolic process (GO:0009100)|integrin-mediated signaling pathway (GO:0007229)|peptide catabolic process (GO:0043171)|platelet activation (GO:0030168)|protein processing (GO:0016485)|proteolysis (GO:0006508)|response to interferon-gamma (GO:0034341)|response to interleukin-4 (GO:0070670)|response to tumor necrosis factor (GO:0034612)	cell surface (GO:0009986)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(4)	36				OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05)		TGGGGGGCGTGCATGTGTTGG	0.622																																						ENST00000371929.3																			0				central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(4)	36						c.(1264-1266)Gca>Aca		ADAM metallopeptidase with thrombospondin type 1 motif, 13							103	84	91					9																	136298780		2203	4300	6503	SO:0001583	missense	11093				cell-matrix adhesion|glycoprotein metabolic process|integrin-mediated signaling pathway|peptide catabolic process|platelet activation|protein processing|proteolysis	cell surface|proteinaceous extracellular matrix	calcium ion binding|integrin binding|metalloendopeptidase activity|zinc ion binding	g.chr9:136298780G>A	AJ011374	CCDS6970.1, CCDS6971.1, CCDS6972.1	9q34	2008-07-21	2005-08-19	2001-09-21	ENSG00000160323	ENSG00000160323		"ADAM metallopeptidases with thrombospondin type 1 motif"	1366	protein-coding gene	gene with protein product		604134	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 13"	C9orf8		11557746, 11535495	Standard	NM_139025		Approved	VWFCP, TTP, vWF-CP, FLJ42993, MGC118899, MGC118900, DKFZp434C2322	uc004cdv.4	Q76LX8	OTTHUMG00000020876	ENST00000371929.3:c.1264G>A	9.37:g.136298780G>A	ENSP00000360997:p.Ala422Thr					ADAMTS13_ENST00000356589.2_Missense_Mutation_p.A391T|ADAMTS13_ENST00000485925.1_Intron|ADAMTS13_ENST00000371916.1_3'UTR|ADAMTS13_ENST00000536611.1_Missense_Mutation_p.A94T|ADAMTS13_ENST00000355699.2_Missense_Mutation_p.A422T	p.A422T	NM_139025.3|NM_139027.3	NP_620594.1|NP_620596.2	Q76LX8	ATS13_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05)	11	1708	+			422			TSP type-1 1.		Q6UY16|Q710F6|Q711T8|Q96L37|Q9H0G3|Q9UGQ1	Missense_Mutation	SNP	ENST00000371929.3	37	c.1264G>A	CCDS6970.1	.	.	.	.	.	.	.	.	.	.	G	10.45	1.355013	0.24512	.	.	ENSG00000160323	ENST00000371929;ENST00000355699;ENST00000356589;ENST00000536611	T;T;T;T	0.53423	0.62;0.62;0.62;3.89	4.88	3.99	0.46301	.	.	.	.	.	T	0.20981	0.0505	N	0.01109	-1.01	0.09310	N	1	B;B;B	0.09022	0.002;0.001;0.001	B;B;B	0.11329	0.006;0.002;0.002	T	0.16571	-1.0398	9	0.30854	T	0.27	.	12.6114	0.56554	0.0809:0.0:0.9191:0.0	.	422;391;422	Q76LX8;Q76LX8-3;Q76LX8-2	ATS13_HUMAN;.;.	T	422;422;391;94	ENSP00000360997:A422T;ENSP00000347927:A422T;ENSP00000348997:A391T;ENSP00000444504:A94T	ENSP00000347927:A422T	A	+	1	0	ADAMTS13	135288601	0.077000	0.21312	0.027000	0.17364	0.618000	0.37518	2.024000	0.41049	1.180000	0.42898	0.462000	0.41574	GCA		0.622	ADAMTS13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000054920.1	NM_139025		25	31	0	0	0	1	0	25	31					A	136298780	G	A	136298780	3	1	435	1	0	0	0	0	1	0	0	0	258	1319	46	3	1306	3	ADAMTS13	9	136298780	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	39354	136298780	4914651	4507	25432											
DBH	1621	broad.mit.edu	37	chr9	136501721	136501721	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gaggccatccatttccagctCctggtgcggaggctcaaggc	7	8	13	13	1	1	0	1	0	0	0	4	2	4	1	4	5	2	2	4	5	1	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:136501721C>T	ENST00000393056.2	+	1	240	c.228C>T	c.(226-228)ctC>ctT	p.L76L		NM_000787.3	NP_000778.3	P09172	DOPO_HUMAN	dopamine beta-hydroxylase (dopamine beta-monooxygenase)	76	DOMON. {ECO:0000255|PROSITE- ProRule:PRU00246}.				behavioral response to ethanol (GO:0048149)|blood vessel remodeling (GO:0001974)|catecholamine biosynthetic process (GO:0042423)|cellular nitrogen compound metabolic process (GO:0034641)|cytokine production (GO:0001816)|dopamine catabolic process (GO:0042420)|fear response (GO:0042596)|glucose homeostasis (GO:0042593)|homoiothermy (GO:0042309)|leukocyte mediated immunity (GO:0002443)|leukocyte migration (GO:0050900)|locomotory behavior (GO:0007626)|maternal behavior (GO:0042711)|memory (GO:0007613)|norepinephrine biosynthetic process (GO:0042421)|positive regulation of vasoconstriction (GO:0045907)|regulation of cell proliferation (GO:0042127)|regulation of extrinsic apoptotic signaling pathway (GO:2001236)|response to amphetamine (GO:0001975)|response to pain (GO:0048265)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|secretory granule lumen (GO:0034774)	catalytic activity (GO:0003824)|copper ion binding (GO:0005507)|dopamine beta-monooxygenase activity (GO:0004500)|L-ascorbic acid binding (GO:0031418)	p.L76L(1)		central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(9)|liver(1)|lung(6)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	36				OV - Ovarian serous cystadenocarcinoma(145;2.33e-07)|Epithelial(140;1.5e-06)|all cancers(34;1.66e-05)	Disulfiram(DB00822)|Dopamine(DB00988)|Propylthiouracil(DB00550)|Vitamin C(DB00126)	ATTTCCAGCTCCTGGTGCGGA	0.627																																						ENST00000393056.2																			1	Substitution - coding silent(1)	p.L76L(1)	endometrium(1)	central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(9)|liver(1)|lung(6)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	36						c.(226-228)ctC>ctT		dopamine beta-hydroxylase (dopamine beta-monooxygenase)	Dopamine(DB00988)|Vitamin C(DB00126)						65	50	55					9																	136501721		2203	4300	6503	SO:0001819	synonymous_variant	1621				hormone biosynthetic process	chromaffin granule lumen|chromaffin granule membrane|extracellular region|integral to membrane|membrane fraction|soluble fraction|transport vesicle membrane	dopamine beta-monooxygenase activity|L-ascorbic acid binding	g.chr9:136501721C>T	X13256	CCDS6977.2	9q34	2013-06-03			ENSG00000123454	ENSG00000123454	1.14.17.1		2689	protein-coding gene	gene with protein product		609312					Standard	NM_000787		Approved	DBM	uc004cel.3	P09172	OTTHUMG00000020878	ENST00000393056.2:c.228C>T	9.37:g.136501721C>T							p.L76L	NM_000787.3	NP_000778.3	P09172	DOPO_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;2.33e-07)|Epithelial(140;1.5e-06)|all cancers(34;1.66e-05)	1	240	+			76			DOMON.		Q5T381|Q96AG2	Silent	SNP	ENST00000393056.2	37	c.228C>T	CCDS6977.2																																																																																				0.627	DBH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054929.2	NM_000787		16	14	0	0	0	1	0	16	14					T	136501721	C	T	136501721	2	4	435	1	0	0	0	0	0	0	0	1	4250	842	30	3		3	DBH	9	136501721	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	202941	136501721	4711710	4508	25433											
VAV2	7410	broad.mit.edu	37	chr9	136634554	136634554	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggtacctgaccagaagggagCggaggggccctgagaagcaa	12	3	17	9	1	0	3	0	2	0	2	0	6	0	5	3	5	3	2	3	5	4	1	rs183141718		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:136634554C>T	ENST00000371850.3	-	28	2450	c.2419G>A	c.(2419-2421)Gct>Act	p.A807T	VAV2_ENST00000406606.3_Intron|VAV2_ENST00000371851.1_Missense_Mutation_p.A797T	NM_001134398.1	NP_001127870.1	P52735	VAV2_HUMAN	vav 2 guanine nucleotide exchange factor	807					angiogenesis (GO:0001525)|apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|lamellipodium assembly (GO:0030032)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|central_nervous_system(3)|endometrium(1)|kidney(3)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(1)	35				OV - Ovarian serous cystadenocarcinoma(145;3.9e-07)|Epithelial(140;2.07e-06)|all cancers(34;9.39e-06)		CAGAAGGGAGCGGAGGGGCCC	0.637													C|||	1	0.000199681	0	0	5008	,	,		15187	0		0.001	False		,,,				2504	0					ENST00000371851.1																			0				breast(1)|central_nervous_system(3)|endometrium(1)|kidney(3)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(1)	35						c.(2389-2391)Gct>Act		vav 2 guanine nucleotide exchange factor							47	47	47					9																	136634554		1563	3579	5142	SO:0001583	missense	7410				angiogenesis|apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	metal ion binding|Rho guanyl-nucleotide exchange factor activity	g.chr9:136634554C>T		CCDS6979.1, CCDS48053.1	9q34.1	2013-02-14	2007-07-25		ENSG00000160293	ENSG00000160293		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing", "SH2 domain containing"	12658	protein-coding gene	gene with protein product		600428	"vav 2 oncogene"			7762982	Standard	NM_003371		Approved		uc004ces.3	P52735	OTTHUMG00000020882	ENST00000371850.3:c.2419G>A	9.37:g.136634554C>T	ENSP00000360916:p.Ala807Thr					VAV2_ENST00000406606.3_Intron|VAV2_ENST00000371850.3_Missense_Mutation_p.A807T	p.A797T			P52735	VAV2_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;3.9e-07)|Epithelial(140;2.07e-06)|all cancers(34;9.39e-06)	26	2714	-			807					A2RUM4|A8MQ12|B6ZDF5|Q5SYV3|Q5SYV4|Q5SYV5|Q6N012|Q6PIJ9|Q6Q317	Missense_Mutation	SNP	ENST00000371850.3	37	c.2389G>A	CCDS48053.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	11.92	1.783738	0.31593	.	.	ENSG00000160293	ENST00000371850;ENST00000371851;ENST00000325440	T;T	0.16897	2.31;2.31	4.29	-0.665	0.11403	Src homology-3 domain (1);	0.242264	0.33419	N	0.004935	T	0.08358	0.0208	L	0.29908	0.895	0.80722	D	1	B	0.09022	0.002	B	0.01281	0.0	T	0.28839	-1.0031	10	0.18276	T	0.48	.	3.2095	0.06677	0.2043:0.2438:0.0:0.5519	.	807	P52735	VAV2_HUMAN	T	807;797;797	ENSP00000360916:A807T;ENSP00000360917:A797T	ENSP00000317258:A797T	A	-	1	0	VAV2	135624375	1.000000	0.71417	0.848000	0.33437	0.972000	0.66771	2.783000	0.47766	-0.018000	0.14079	0.313000	0.20887	GCT		0.637	VAV2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054939.1			3	7	0	0	0	1	0	3	7					T	136634554	C	T	136634554	3	4	435	1	0	0	0	0	1	0	0	0	17129	768	27	1	229	1	VAV2	9	136634554	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	132833	136634554	4578877	4509	25434											
VAV2	7410	broad.mit.edu	37	chr9	136641200	136641200	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatggcggccggctgatgggCggctggtggcagagcacaag	7	5	20	9	3	0	2	0	1	0	1	0	3	0	2	1	7	1	4	1	7	1	0	rs150295787		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:136641200C>T	ENST00000371850.3	-	24	1999	c.1968G>A	c.(1966-1968)ccG>ccA	p.P656P	VAV2_ENST00000406606.3_Silent_p.P646P|VAV2_ENST00000371851.1_Silent_p.P646P	NM_001134398.1	NP_001127870.1	P52735	VAV2_HUMAN	vav 2 guanine nucleotide exchange factor	656					angiogenesis (GO:0001525)|apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|lamellipodium assembly (GO:0030032)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|central_nervous_system(3)|endometrium(1)|kidney(3)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(1)	35				OV - Ovarian serous cystadenocarcinoma(145;3.9e-07)|Epithelial(140;2.07e-06)|all cancers(34;9.39e-06)		GGCTGATGGGCGGCTGGTGGC	0.617																																						ENST00000371851.1																			0				breast(1)|central_nervous_system(3)|endometrium(1)|kidney(3)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(1)	35						c.(1936-1938)ccG>ccA		vav 2 guanine nucleotide exchange factor		C	,	1,4405	2.1+/-5.4	0,1,2202	65	62	63		1968,1938	-8	0.6	9	dbSNP_134	63	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	VAV2	NM_001134398.1,NM_003371.3	,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,	656/879,646/840	136641200	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	7410				angiogenesis|apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	metal ion binding|Rho guanyl-nucleotide exchange factor activity	g.chr9:136641200C>T		CCDS6979.1, CCDS48053.1	9q34.1	2013-02-14	2007-07-25		ENSG00000160293	ENSG00000160293		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing", "SH2 domain containing"	12658	protein-coding gene	gene with protein product		600428	"vav 2 oncogene"			7762982	Standard	NM_003371		Approved		uc004ces.3	P52735	OTTHUMG00000020882	ENST00000371850.3:c.1968G>A	9.37:g.136641200C>T						VAV2_ENST00000406606.3_Silent_p.P646P|VAV2_ENST00000371850.3_Silent_p.P656P	p.P646P			P52735	VAV2_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;3.9e-07)|Epithelial(140;2.07e-06)|all cancers(34;9.39e-06)	22	2263	-			656			SH3 1.		A2RUM4|A8MQ12|B6ZDF5|Q5SYV3|Q5SYV4|Q5SYV5|Q6N012|Q6PIJ9|Q6Q317	Silent	SNP	ENST00000371850.3	37	c.1938G>A	CCDS48053.1																																																																																				0.617	VAV2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054939.1			21	26	0	0	0	1	0	21	26					T	136641200	C	T	136641200	2	4	435	1	0	0	0	0	0	0	0	1	17129	755	27	1		1	VAV2	9	136641200	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	6646	136641200	4572231	4510	25435											
BRD3	8019	broad.mit.edu	37	chr9	136907070	136907070	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcaaacctcatctcaaacaCgtcctgcggcagaacagagg	13	5	10	13	2	2	2	2	0	1	2	4	2	3	2	2	3	4	2	2	3	3	0	rs200921972		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:136907070C>T	ENST00000303407.7	-	8	1404	c.1219G>A	c.(1219-1221)Gtg>Atg	p.V407M	BRD3_ENST00000357885.2_Missense_Mutation_p.V407M|BRD3_ENST00000473349.1_5'Flank|BRD3_ENST00000371834.2_Missense_Mutation_p.V407M	NM_007371.3	NP_031397.1	Q15059	BRD3_HUMAN	bromodomain containing 3	407					chromatin modification (GO:0016568)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|lysine-acetylated histone binding (GO:0070577)		BRD3/C15orf55(3)	kidney(1)|skin(1)|stomach(4)	6				OV - Ovarian serous cystadenocarcinoma(145;1.43e-08)|Epithelial(140;8.41e-08)|all cancers(34;5.21e-07)		ATCTCAAACACGTCCTGCGGC	0.662			T	C15orf55	lethal midline carcinoma of young people																																	ENST00000303407.7				Dom	yes		9	9q34	8019	T	bromodomain containing 3			E	C15orf55		lethal midline carcinoma of young people	BRD3/C15orf55(3)	0				kidney(1)|skin(1)|stomach(4)	6						c.(1219-1221)Gtg>Atg		bromodomain containing 3							21	25	23					9																	136907070		2203	4300	6503	SO:0001583	missense	8019					nucleus	protein binding	g.chr9:136907070C>T		CCDS6980.1	9q34	2010-12-23	2002-01-14		ENSG00000169925	ENSG00000169925			1104	protein-coding gene	gene with protein product	"RING3-like"	601541	"bromodomain-containing 3"			7584044, 8781126	Standard	NM_007371		Approved	RING3L, ORFX, KIAA0043	uc004cew.3	Q15059	OTTHUMG00000021004	ENST00000303407.7:c.1219G>A	9.37:g.136907070C>T	ENSP00000305918:p.Val407Met					BRD3_ENST00000357885.2_Missense_Mutation_p.V407M|BRD3_ENST00000371834.2_Missense_Mutation_p.V407M	p.V407M	NM_007371.3	NP_031397.1	Q15059	BRD3_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.43e-08)|Epithelial(140;8.41e-08)|all cancers(34;5.21e-07)	8	1404	-			407					B1APD9|Q4G5Y3|Q5T1R7|Q8N5M3|Q92645	Missense_Mutation	SNP	ENST00000303407.7	37	c.1219G>A	CCDS6980.1	.	.	.	.	.	.	.	.	.	.	C	18.02	3.530873	0.64972	.	.	ENSG00000169925	ENST00000303407;ENST00000540795;ENST00000371834;ENST00000357885	T;T;T	0.20332	2.08;2.08;2.08	4.99	4.99	0.66335	Bromodomain (3);	0.000000	0.64402	D	0.000005	T	0.54208	0.1844	M	0.89904	3.07	0.80722	D	1	D;D	0.89917	1.0;1.0	D;P	0.69479	0.964;0.885	T	0.65837	-0.6071	10	0.87932	D	0	-17.642	17.2437	0.87021	0.0:1.0:0.0:0.0	.	407;407	Q15059-2;Q15059	.;BRD3_HUMAN	M	407;86;407;407	ENSP00000305918:V407M;ENSP00000360900:V407M;ENSP00000350557:V407M	ENSP00000305918:V407M	V	-	1	0	BRD3	135896891	1.000000	0.71417	1.000000	0.80357	0.505000	0.33919	4.674000	0.61612	2.305000	0.77605	0.462000	0.41574	GTG		0.662	BRD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055390.4	NM_007371		3	15	0	0	0	1	0	3	15					T	136907070	C	T	136907070	3	4	435	1	0	0	0	0	1	0	0	0	1503	536	19	1	981	1	BRD3	9	136907070	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	265870	136907070	4306361	4511	25436											
WDR5	11091	broad.mit.edu	37	chr9	137023095	137023095	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aaaatgacaaaacaattaaaCtgtggaagagtgactgctaa	20	8	8	5	0	0	3	0	2	0	1	0	4	0	4	0	1	3	1	0	1	9	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:137023095C>T	ENST00000358625.3	+	14	1156	c.985C>T	c.(985-987)Ctg>Ttg	p.L329L	WDR5_ENST00000425041.1_Silent_p.L329L	NM_017588.2	NP_060058.1	P61964	WDR5_HUMAN	WD repeat domain 5	329					chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|histone H3-K4 methylation (GO:0051568)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)|positive regulation of gluconeogenesis (GO:0045722)|regulation of transcription, DNA-templated (GO:0006355)|skeletal system development (GO:0001501)|transcription, DNA-templated (GO:0006351)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|histone acetyltransferase complex (GO:0000123)|histone methyltransferase complex (GO:0035097)|MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)				endometrium(1)|kidney(1)|large_intestine(2)|lung(5)	9		Myeloproliferative disorder(178;0.0255)|Medulloblastoma(224;0.123)		Epithelial(140;6.61e-13)|all cancers(34;5.66e-12)|OV - Ovarian serous cystadenocarcinoma(145;3.93e-08)|GBM - Glioblastoma multiforme(294;0.00326)|READ - Rectum adenocarcinoma(205;0.154)		AACAATTAAACTGTGGAAGAG	0.493																																						ENST00000358625.3																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(5)	9						c.(985-987)Ctg>Ttg		WD repeat domain 5							144	122	129					9																	137023095		2203	4300	6503	SO:0001819	synonymous_variant	11091				histone H3 acetylation|histone H3-K4 methylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Ada2/Gcn5/Ada3 transcription activator complex|MLL1 complex|Set1C/COMPASS complex	protein binding	g.chr9:137023095C>T	AJ011376	CCDS6981.1	9q34	2014-09-03			ENSG00000196363	ENSG00000196363		"WD repeat domain containing"	12757	protein-coding gene	gene with protein product	"SWD3, Set1c WD40 repeat protein, homolog (S. cerevisiae)", "cilia and flagella associated protein 89"	609012				11551928	Standard	XM_005272163		Approved	SWD3, CFAP89	uc004cey.3	P61964	OTTHUMG00000131707	ENST00000358625.3:c.985C>T	9.37:g.137023095C>T						WDR5_ENST00000425041.1_Silent_p.L329L	p.L329L	NM_017588.2	NP_060058.1	P61964	WDR5_HUMAN		Epithelial(140;6.61e-13)|all cancers(34;5.66e-12)|OV - Ovarian serous cystadenocarcinoma(145;3.93e-08)|GBM - Glioblastoma multiforme(294;0.00326)|READ - Rectum adenocarcinoma(205;0.154)	14	1156	+		Myeloproliferative disorder(178;0.0255)|Medulloblastoma(224;0.123)	329					Q91VA5|Q9NWX7|Q9UGP9	Silent	SNP	ENST00000358625.3	37	c.985C>T	CCDS6981.1																																																																																				0.493	WDR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254621.1	NM_052821		25	37	0	0	0	1	0	25	37					T	137023095	C	T	137023095	2	4	435	1	0	0	0	0	0	0	0	1	17300	564	20	3		3	WDR5	9	137023095	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	116025	137023095	4190336	4512	25437											
RXRA	6256	broad.mit.edu	37	chr9	137313559	137313559	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caacatttgccaagcagccgAcaaacagcttttcaccctgg	12	8	7	14	1	1	0	1	0	0	0	1	1	1	0	3	1	6	2	3	1	3	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:137313559A>G	ENST00000481739.1	+	6	870	c.818A>G	c.(817-819)gAc>gGc	p.D273G	RXRA_ENST00000356384.4_3'UTR|RXRA_ENST00000540193.1_Missense_Mutation_p.D176G	NM_002957.4	NP_002948.1	P19793	RXRA_HUMAN	retinoid X receptor, alpha	273	Ligand-binding.				camera-type eye development (GO:0043010)|cardiac muscle cell proliferation (GO:0060038)|cellular lipid metabolic process (GO:0044255)|cholesterol metabolic process (GO:0008203)|embryo implantation (GO:0007566)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|maternal placenta development (GO:0001893)|modulation by virus of host morphology or physiology (GO:0019048)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|peroxisome proliferator activated receptor signaling pathway (GO:0035357)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein homotetramerization (GO:0051289)|regulation of branching involved in prostate gland morphogenesis (GO:0060687)|response to retinoic acid (GO:0032526)|retinoic acid receptor signaling pathway (GO:0048384)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|ventricular cardiac muscle cell differentiation (GO:0055012)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|vitamin metabolic process (GO:0006766)	nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	9-cis retinoic acid receptor activity (GO:0004886)|chromatin DNA binding (GO:0031490)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein heterodimerization activity (GO:0046982)|retinoic acid receptor activity (GO:0003708)|retinoic acid-responsive element binding (GO:0044323)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription coactivator activity (GO:0003713)|vitamin D receptor binding (GO:0042809)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19				OV - Ovarian serous cystadenocarcinoma(145;4.66e-08)|Epithelial(140;6.72e-08)|all cancers(34;2.22e-07)	Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Bexarotene(DB00307)|Etodolac(DB00749)	CAAGCAGCCGACAAACAGCTT	0.582																																						ENST00000540193.1																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(526-528)gAc>gGc		retinoid X receptor, alpha	Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)						197	164	175					9																	137313559		2203	4300	6503	SO:0001583	missense	6256				cellular lipid metabolic process|cholesterol metabolic process|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to retinoic acid|vitamin metabolic process	nuclear chromatin|nucleoplasm	enzyme binding|ligand-regulated transcription factor activity|protein heterodimerization activity|retinoic acid-responsive element binding|retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|transcription coactivator activity|vitamin D receptor binding|zinc ion binding	g.chr9:137313559A>G	X52773	CCDS35172.1	9q34	2013-01-16			ENSG00000186350	ENSG00000186350		"Nuclear hormone receptors"	10477	protein-coding gene	gene with protein product	"nuclear receptor subfamily 2 group B member 1"	180245				2159111	Standard	XM_005263409		Approved	NR2B1	uc004cfa.1	P19793	OTTHUMG00000020887	ENST00000481739.1:c.818A>G	9.37:g.137313559A>G	ENSP00000419692:p.Asp273Gly					RXRA_ENST00000356384.4_3'UTR|RXRA_ENST00000481739.1_Missense_Mutation_p.D273G	p.D176G			P19793	RXRA_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;4.66e-08)|Epithelial(140;6.72e-08)|all cancers(34;2.22e-07)	5	1450	+			273					B3KY83|Q2NL52|Q2V504	Missense_Mutation	SNP	ENST00000481739.1	37	c.527A>G	CCDS35172.1	.	.	.	.	.	.	.	.	.	.	A	22.9	4.352613	0.82132	.	.	ENSG00000186350	ENST00000481739;ENST00000540193	D;D	0.96802	-4.13;-4.13	4.51	4.51	0.55191	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	0.000000	0.85682	D	0.000000	D	0.98027	0.9350	M	0.90252	3.1	0.80722	D	1	P;P	0.47677	0.594;0.899	P;P	0.59703	0.707;0.862	D	0.98886	1.0771	10	0.72032	D	0.01	.	13.8515	0.63499	1.0:0.0:0.0:0.0	.	176;273	B3KY83;P19793	.;RXRA_HUMAN	G	273;176	ENSP00000419692:D273G;ENSP00000442123:D176G	ENSP00000419692:D273G	D	+	2	0	RXRA	136453380	1.000000	0.71417	0.983000	0.44433	0.826000	0.46750	8.849000	0.92178	1.669000	0.50854	0.397000	0.26171	GAC		0.582	RXRA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054949.1	NM_002957		26	75	0	0	0	1	0	26	75					G	137313559	A	G	137313559	3	3	435	1	0	0	0	0	1	0	0	0	13763	275	10	4	840	4	RXRA	9	137313559	Missense_Mutation	SNP	A	TCGA-XK-AAIW-01A-11D-A41K-08	290464	137313559	3899872	4513	25438											
RXRA	6256	broad.mit.edu	37	chr9	137321010	137321010	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gctccatcgccgtgaaggacGggatcctcctggccaccggg	6	6	14	15	4	0	1	0	1	0	0	4	3	3	3	6	4	0	1	6	4	1	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:137321010G>A	ENST00000481739.1	+	7	1019	c.967G>A	c.(967-969)Ggg>Agg	p.G323R	RXRA_ENST00000356384.4_3'UTR|RXRA_ENST00000540193.1_Missense_Mutation_p.G226R	NM_002957.4	NP_002948.1	P19793	RXRA_HUMAN	retinoid X receptor, alpha	323	Ligand-binding.				camera-type eye development (GO:0043010)|cardiac muscle cell proliferation (GO:0060038)|cellular lipid metabolic process (GO:0044255)|cholesterol metabolic process (GO:0008203)|embryo implantation (GO:0007566)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|maternal placenta development (GO:0001893)|modulation by virus of host morphology or physiology (GO:0019048)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|peroxisome proliferator activated receptor signaling pathway (GO:0035357)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein homotetramerization (GO:0051289)|regulation of branching involved in prostate gland morphogenesis (GO:0060687)|response to retinoic acid (GO:0032526)|retinoic acid receptor signaling pathway (GO:0048384)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|ventricular cardiac muscle cell differentiation (GO:0055012)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|vitamin metabolic process (GO:0006766)	nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	9-cis retinoic acid receptor activity (GO:0004886)|chromatin DNA binding (GO:0031490)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein heterodimerization activity (GO:0046982)|retinoic acid receptor activity (GO:0003708)|retinoic acid-responsive element binding (GO:0044323)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription coactivator activity (GO:0003713)|vitamin D receptor binding (GO:0042809)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19				OV - Ovarian serous cystadenocarcinoma(145;4.66e-08)|Epithelial(140;6.72e-08)|all cancers(34;2.22e-07)	Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Bexarotene(DB00307)|Etodolac(DB00749)	CGTGAAGGACGGGATCCTCCT	0.687																																						ENST00000540193.1																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(676-678)Ggg>Agg		retinoid X receptor, alpha	Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)						82	79	80					9																	137321010		2203	4300	6503	SO:0001583	missense	6256				cellular lipid metabolic process|cholesterol metabolic process|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to retinoic acid|vitamin metabolic process	nuclear chromatin|nucleoplasm	enzyme binding|ligand-regulated transcription factor activity|protein heterodimerization activity|retinoic acid-responsive element binding|retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|transcription coactivator activity|vitamin D receptor binding|zinc ion binding	g.chr9:137321010G>A	X52773	CCDS35172.1	9q34	2013-01-16			ENSG00000186350	ENSG00000186350		"Nuclear hormone receptors"	10477	protein-coding gene	gene with protein product	"nuclear receptor subfamily 2 group B member 1"	180245				2159111	Standard	XM_005263409		Approved	NR2B1	uc004cfa.1	P19793	OTTHUMG00000020887	ENST00000481739.1:c.967G>A	9.37:g.137321010G>A	ENSP00000419692:p.Gly323Arg					RXRA_ENST00000356384.4_3'UTR|RXRA_ENST00000481739.1_Missense_Mutation_p.G323R	p.G226R			P19793	RXRA_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;4.66e-08)|Epithelial(140;6.72e-08)|all cancers(34;2.22e-07)	6	1599	+			323			Ligand-binding.		B3KY83|Q2NL52|Q2V504	Missense_Mutation	SNP	ENST00000481739.1	37	c.676G>A	CCDS35172.1	.	.	.	.	.	.	.	.	.	.	G	23.9	4.472352	0.84533	.	.	ENSG00000186350	ENST00000481739;ENST00000540193	D;D	0.96554	-4.05;-4.05	4.26	3.36	0.38483	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	0.000000	0.85682	D	0.000000	D	0.97442	0.9163	M	0.70108	2.13	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.97394	0.9991	10	0.72032	D	0.01	.	12.2752	0.54730	0.0844:0.0:0.9156:0.0	.	323	P19793	RXRA_HUMAN	R	323;226	ENSP00000419692:G323R;ENSP00000442123:G226R	ENSP00000419692:G323R	G	+	1	0	RXRA	136460831	1.000000	0.71417	0.982000	0.44146	0.977000	0.68977	9.401000	0.97294	0.911000	0.36747	0.491000	0.48974	GGG		0.687	RXRA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054949.1	NM_002957		8	47	0	0	0	1	0	8	47					A	137321010	G	A	137321010	3	1	435	1	0	0	0	0	1	0	0	0	13763	1116	39	2	993	2	RXRA	9	137321010	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	7451	137321010	3892421	4514	25439											
COL5A1	1289	broad.mit.edu	37	chr9	137681047	137681047	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tggcgccaatggagagaaggGcggcagggtaaggatagcct	11	5	18	7	2	0	1	0	0	0	1	0	4	0	3	2	6	1	2	2	6	4	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:137681047G>A	ENST00000371817.3	+	32	3107	c.2693G>A	c.(2692-2694)gGc>gAc	p.G898D		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	898	Triple-helical region.				axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular fibril organization (GO:0043206)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|eye morphogenesis (GO:0048592)|heart morphogenesis (GO:0003007)|integrin biosynthetic process (GO:0045112)|negative regulation of endodermal cell differentiation (GO:1903225)|regulation of cellular component organization (GO:0051128)|skin development (GO:0043588)|tendon development (GO:0035989)|wound healing, spreading of epidermal cells (GO:0035313)	basement membrane (GO:0005604)|collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|proteoglycan binding (GO:0043394)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		GGAGAGAAGGGCGGCAGGGTA	0.572																																						ENST00000371817.3																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115						c.(2692-2694)gGc>gAc		collagen, type V, alpha 1							43	40	41					9																	137681047		2200	4300	6500	SO:0001583	missense	1289				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding	g.chr9:137681047G>A	D90279	CCDS6982.1, CCDS75932.1	9q34.2-q34.3	2014-09-17			ENSG00000130635	ENSG00000130635		"Collagens"	2209	protein-coding gene	gene with protein product	"alpha 1 type V collagen"	120215				1572660	Standard	NM_001278074		Approved		uc031tfl.1	P20908	OTTHUMG00000020891	ENST00000371817.3:c.2693G>A	9.37:g.137681047G>A	ENSP00000360882:p.Gly898Asp						p.G898D	NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)	32	3107	+		Myeloproliferative disorder(178;0.0341)	898			Triple-helical region.		Q15094|Q5SUX4	Missense_Mutation	SNP	ENST00000371817.3	37	c.2693G>A	CCDS6982.1	.	.	.	.	.	.	.	.	.	.	g	22.7	4.319002	0.81469	.	.	ENSG00000130635	ENST00000371817	D	0.99619	-6.28	4.18	4.18	0.49190	.	0.000000	0.64402	U	0.000001	D	0.99792	0.9912	H	0.98370	4.215	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	D	0.96764	0.9563	10	0.87932	D	0	.	14.1013	0.65056	0.0:0.0:1.0:0.0	.	898	P20908	CO5A1_HUMAN	D	898	ENSP00000360882:G898D	ENSP00000360882:G898D	G	+	2	0	COL5A1	136820868	1.000000	0.71417	0.990000	0.47175	0.966000	0.64601	8.118000	0.89577	1.898000	0.54952	0.373000	0.22412	GGC		0.572	COL5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054954.2	NM_000093		7	10	0	0	0	1	0	7	10					A	137681047	G	A	137681047	3	1	435	1	0	0	0	0	1	0	0	0	3696	1203	42	3	2819	3	COL5A1	9	137681047	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	360037	137681047	3532384	4515	25440											
COL5A1	1289	broad.mit.edu	37	chr9	137721840	137721840	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aggccagaatcacttcttggCccaaagaaaacccgggctcc	12	6	9	14	1	2	2	1	0	1	2	3	2	3	2	4	3	1	1	4	3	4	2	rs369928730		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:137721840C>T	ENST00000371817.3	+	64	5500	c.5086C>T	c.(5086-5088)Ccc>Tcc	p.P1696S		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	1696	Fibrillar collagen NC1. {ECO:0000255|PROSITE-ProRule:PRU00793}.				axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular fibril organization (GO:0043206)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|eye morphogenesis (GO:0048592)|heart morphogenesis (GO:0003007)|integrin biosynthetic process (GO:0045112)|negative regulation of endodermal cell differentiation (GO:1903225)|regulation of cellular component organization (GO:0051128)|skin development (GO:0043588)|tendon development (GO:0035989)|wound healing, spreading of epidermal cells (GO:0035313)	basement membrane (GO:0005604)|collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|proteoglycan binding (GO:0043394)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		CACTTCTTGGCCCAAAGAAAA	0.557																																						ENST00000371817.3																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115						c.(5086-5088)Ccc>Tcc		collagen, type V, alpha 1							73	69	70					9																	137721840		2203	4300	6503	SO:0001583	missense	1289				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding	g.chr9:137721840C>T	D90279	CCDS6982.1, CCDS75932.1	9q34.2-q34.3	2014-09-17			ENSG00000130635	ENSG00000130635		"Collagens"	2209	protein-coding gene	gene with protein product	"alpha 1 type V collagen"	120215				1572660	Standard	NM_001278074		Approved		uc031tfl.1	P20908	OTTHUMG00000020891	ENST00000371817.3:c.5086C>T	9.37:g.137721840C>T	ENSP00000360882:p.Pro1696Ser						p.P1696S	NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)	64	5500	+		Myeloproliferative disorder(178;0.0341)	1696			Fibrillar collagen NC1.		Q15094|Q5SUX4	Missense_Mutation	SNP	ENST00000371817.3	37	c.5086C>T	CCDS6982.1	.	.	.	.	.	.	.	.	.	.	C	11.33	1.607861	0.28623	.	.	ENSG00000130635	ENST00000371817	T	0.72282	-0.64	4.99	4.99	0.66335	Fibrillar collagen, C-terminal (3);	0.162989	0.41500	U	0.000868	T	0.57946	0.2088	N	0.21142	0.635	0.47994	D	0.999562	B	0.22909	0.077	B	0.18561	0.022	T	0.53358	-0.8450	10	0.18276	T	0.48	.	18.6249	0.91333	0.0:1.0:0.0:0.0	.	1696	P20908	CO5A1_HUMAN	S	1696	ENSP00000360882:P1696S	ENSP00000360882:P1696S	P	+	1	0	COL5A1	136861661	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.303000	0.51858	2.453000	0.82957	0.655000	0.94253	CCC		0.557	COL5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054954.2	NM_000093		18	23	0	0	0	1	0	18	23					T	137721840	C	T	137721840	3	4	435	1	0	0	0	0	1	0	0	0	3696	739	26	3	5340	3	COL5A1	9	137721840	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	40793	137721840	3491591	4516	25441											
OLFM1	10439	broad.mit.edu	37	chr9	137990194	137990194	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgttggaagagtacaaggcCgatgccaaattggtattgca	12	10	13	6	1	0	1	0	0	0	1	0	3	0	2	2	3	3	4	2	3	5	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:137990194C>T	ENST00000371793.3	+	4	770	c.519C>T	c.(517-519)gcC>gcT	p.A173A	OLFM1_ENST00000371796.3_Silent_p.A146A|OLFM1_ENST00000252854.4_Silent_p.A155A	NM_001282611.1	NP_001269540.1	Q99784	NOE1_HUMAN	olfactomedin 1	173					negative regulation of beta-amyloid formation (GO:1902430)|negative regulation of neuron migration (GO:2001223)|nervous system development (GO:0007399)|protein oligomerization (GO:0051259)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|extracellular space (GO:0005615)|synapse (GO:0045202)	beta-amyloid binding (GO:0001540)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(2)	21		Myeloproliferative disorder(178;0.0333)		Epithelial(140;5.49e-08)|OV - Ovarian serous cystadenocarcinoma(145;9.68e-08)|all cancers(34;1.88e-07)		AGTACAAGGCCGATGCCAAAT	0.453																																						ENST00000252854.4																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(2)	21						c.(463-465)gcC>gcT		olfactomedin 1							121	115	117					9																	137990194		2203	4300	6503	SO:0001819	synonymous_variant	10439				nervous system development	endoplasmic reticulum lumen	protein binding	g.chr9:137990194C>T	AF035301	CCDS6986.1, CCDS6987.1, CCDS65183.1, CCDS65184.1	9q34.3	2014-01-20			ENSG00000130558	ENSG00000130558			17187	protein-coding gene	gene with protein product	"pancortin"	605366				9039501	Standard	NM_006334		Approved	NOE1, OlfA, AMY, NOELIN	uc004cfl.4	Q99784	OTTHUMG00000020897	ENST00000371793.3:c.519C>T	9.37:g.137990194C>T						OLFM1_ENST00000371793.3_Silent_p.A173A|OLFM1_ENST00000371796.3_Silent_p.A146A	p.A155A	NM_014279.4	NP_055094.1	Q99784	NOE1_HUMAN		Epithelial(140;5.49e-08)|OV - Ovarian serous cystadenocarcinoma(145;9.68e-08)|all cancers(34;1.88e-07)	4	652	+		Myeloproliferative disorder(178;0.0333)	173					Q53XZ8|Q6IMJ4|Q6IMJ5|Q8N8R0|Q969S7|Q99452	Silent	SNP	ENST00000371793.3	37	c.465C>T		.	.	.	.	.	.	.	.	.	.	C	9.721	1.159762	0.21454	.	.	ENSG00000130558	ENST00000545657	.	.	.	4.97	4.97	0.65823	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.5994	0.91242	0.0:1.0:0.0:0.0	.	.	.	.	X	33	.	.	R	+	1	2	OLFM1	137130015	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.827000	0.69300	2.466000	0.83321	0.637000	0.83480	CGA		0.453	OLFM1-004	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000054974.1	NM_014279		23	38	0	0	0	1	0	23	38					T	137990194	C	T	137990194	2	4	435	1	0	0	0	0	0	0	0	1	10852	639	23	2		2	OLFM1	9	137990194	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	268354	137990194	3223237	4517	25442											
OLFM1	10439	broad.mit.edu	37	chr9	138011583	138011583	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acccgcagcctggactatgcCggttacaacaacatgtacca	12	7	8	14	2	0	0	0	0	0	0	0	1	0	1	4	2	6	3	4	2	5	3	rs558323197		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:138011583C>T	ENST00000371793.3	+	6	1268	c.1017C>T	c.(1015-1017)gcC>gcT	p.A339A	OLFM1_ENST00000371796.3_Silent_p.A312A|OLFM1_ENST00000252854.4_Silent_p.A321A	NM_001282611.1	NP_001269540.1	Q99784	NOE1_HUMAN	olfactomedin 1	339	Olfactomedin-like. {ECO:0000255|PROSITE- ProRule:PRU00446}.				negative regulation of beta-amyloid formation (GO:1902430)|negative regulation of neuron migration (GO:2001223)|nervous system development (GO:0007399)|protein oligomerization (GO:0051259)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|extracellular space (GO:0005615)|synapse (GO:0045202)	beta-amyloid binding (GO:0001540)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(2)	21		Myeloproliferative disorder(178;0.0333)		Epithelial(140;5.49e-08)|OV - Ovarian serous cystadenocarcinoma(145;9.68e-08)|all cancers(34;1.88e-07)		TGGACTATGCCGGTTACAACA	0.552													C|||	1	0.000199681	0	0	5008	,	,		19100	0.001		0	False		,,,				2504	0					ENST00000252854.4																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(2)	21						c.(961-963)gcC>gcT		olfactomedin 1							97	83	87					9																	138011583		2203	4300	6503	SO:0001819	synonymous_variant	10439				nervous system development	endoplasmic reticulum lumen	protein binding	g.chr9:138011583C>T	AF035301	CCDS6986.1, CCDS6987.1, CCDS65183.1, CCDS65184.1	9q34.3	2014-01-20			ENSG00000130558	ENSG00000130558			17187	protein-coding gene	gene with protein product	"pancortin"	605366				9039501	Standard	NM_006334		Approved	NOE1, OlfA, AMY, NOELIN	uc004cfl.4	Q99784	OTTHUMG00000020897	ENST00000371793.3:c.1017C>T	9.37:g.138011583C>T						OLFM1_ENST00000371793.3_Silent_p.A339A|OLFM1_ENST00000371796.3_Silent_p.A312A	p.A321A	NM_014279.4	NP_055094.1	Q99784	NOE1_HUMAN		Epithelial(140;5.49e-08)|OV - Ovarian serous cystadenocarcinoma(145;9.68e-08)|all cancers(34;1.88e-07)	6	1150	+		Myeloproliferative disorder(178;0.0333)	339			Olfactomedin-like.		Q53XZ8|Q6IMJ4|Q6IMJ5|Q8N8R0|Q969S7|Q99452	Silent	SNP	ENST00000371793.3	37	c.963C>T																																																																																					0.552	OLFM1-004	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000054974.1	NM_014279		13	20	0	0	0	1	0	13	20					T	138011583	C	T	138011583	2	4	435	1	0	0	0	0	0	0	0	1	10852	639	23	2		2	OLFM1	9	138011583	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	21389	138011583	3201848	4518	25443											
MRPS2	51116	broad.mit.edu	37	chr9	138395974	138395974	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gggctgacatgagccattccCtgtgatgttcactctcctcc	6	12	9	14	0	2	3	1	3	1	0	5	3	4	3	4	1	1	2	4	1	0	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:138395974C>A	ENST00000371785.1	+	5	1095	c.886C>A	c.(886-888)Ctg>Atg	p.L296M	RP11-426A6.5_ENST00000415062.1_RNA|MRPS2_ENST00000241600.5_Missense_Mutation_p.L296M|C9orf116_ENST00000371791.1_5'Flank			Q9Y399	RT02_HUMAN	mitochondrial ribosomal protein S2	296					translation (GO:0006412)	mitochondrion (GO:0005739)|small ribosomal subunit (GO:0015935)	structural constituent of ribosome (GO:0003735)			large_intestine(2)|lung(1)|prostate(2)|urinary_tract(1)	6				OV - Ovarian serous cystadenocarcinoma(145;1.46e-53)|Epithelial(140;2.04e-47)|all cancers(34;1.23e-42)		GAGCCATTCCCTGTGATGTTC	0.637																																						ENST00000371785.1																			0				large_intestine(2)|lung(1)|prostate(2)|urinary_tract(1)	6						c.(886-888)Ctg>Atg		mitochondrial ribosomal protein S2							19	20	20					9																	138395974		2197	4299	6496	SO:0001583	missense	51116				translation	mitochondrion|small ribosomal subunit	structural constituent of ribosome	g.chr9:138395974C>A	AB051627	CCDS6990.1	9q34	2012-09-13			ENSG00000122140	ENSG00000122140		"Mitochondrial ribosomal proteins / small subunits"	14495	protein-coding gene	gene with protein product		611971					Standard	NM_016034		Approved	CGI-91	uc004cfv.5	Q9Y399	OTTHUMG00000020910	ENST00000371785.1:c.886C>A	9.37:g.138395974C>A	ENSP00000360850:p.Leu296Met					MRPS2_ENST00000241600.5_Missense_Mutation_p.L296M|RP11-426A6.5_ENST00000415062.1_RNA	p.L296M			Q9Y399	RT02_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.46e-53)|Epithelial(140;2.04e-47)|all cancers(34;1.23e-42)	5	1095	+			296					Q5T899|Q9BSQ4	Missense_Mutation	SNP	ENST00000371785.1	37	c.886C>A	CCDS6990.1	.	.	.	.	.	.	.	.	.	.	C	13.15	2.149877	0.37923	.	.	ENSG00000122140	ENST00000371785;ENST00000241600	T;T	0.26660	1.72;1.72	2.89	-1.98E-4	0.14039	.	1.249430	0.06604	N	0.754415	T	0.15176	0.0366	N	0.19112	0.55	0.09310	N	1	P	0.46277	0.875	B	0.38327	0.271	T	0.22452	-1.0216	10	0.59425	D	0.04	.	6.4735	0.22022	0.0:0.625:0.0:0.375	.	296	Q9Y399	RT02_HUMAN	M	296	ENSP00000360850:L296M;ENSP00000241600:L296M	ENSP00000241600:L296M	L	+	1	2	MRPS2	137535795	0.000000	0.05858	0.001000	0.08648	0.072000	0.16883	-0.392000	0.07314	0.001000	0.14605	0.467000	0.42956	CTG		0.637	MRPS2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000054998.1			3	8	1	0	0.115264	1	0.115739	3	8					A	138395974	C	A	138395974	3	1	435	1	0	0	0	0	1	0	0	0	9831	680	24	5	900	5	MRPS2	9	138395974	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	384391	138395974	2817457	4519	25444											
PAEP	5047	broad.mit.edu	37	chr9	138457638	138457638	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tctcctcccacagagccgtgCcgtttctaggtgagctcctg	5	11	10	15	2	2	2	0	1	2	1	5	2	4	2	5	1	3	2	5	1	1	2	rs537242473	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:138457638C>T	ENST00000479141.1	+	6	578	c.534C>T	c.(532-534)tgC>tgT	p.C178C	PAEP_ENST00000371766.2_Silent_p.C178C|PAEP_ENST00000277508.5_Silent_p.C178C	NM_002571.2	NP_002562.2	P09466	PAEP_HUMAN	progestagen-associated endometrial protein	178					multicellular organismal development (GO:0007275)|transport (GO:0006810)	extracellular region (GO:0005576)	small molecule binding (GO:0036094)			cervix(1)|endometrium(1)|lung(1)|prostate(1)|skin(1)|stomach(1)	6				OV - Ovarian serous cystadenocarcinoma(145;3.39e-07)|Epithelial(140;1.11e-06)|all cancers(34;2.04e-05)		CAGAGCCGTGCCGTTTCTAGG	0.617																																						ENST00000479141.1																			0				cervix(1)|endometrium(1)|lung(1)|prostate(1)|skin(1)|stomach(1)	6						c.(532-534)tgC>tgT		progestagen-associated endometrial protein							173	173	173					9																	138457638		2203	4300	6503	SO:0001819	synonymous_variant	5047				multicellular organismal development	extracellular region	binding|transporter activity	g.chr9:138457638C>T		CCDS35173.1	9q34	2011-11-15	2008-07-31		ENSG00000122133	ENSG00000122133		"Lipocalins"	8573	protein-coding gene	gene with protein product	"glycodelin-A", "glycodelin-S", "glycodelin-F", "progesterone-associated endometrial protein", "glycodelin", "PP14 protein (placental protein 14)", "pregnancy-associated endometrial alpha-2-globulin", "alpha uterine protein"	173310				3320533, 2016092	Standard	XM_005263405		Approved	PEP, PP14, GdA, GdS, GdF, PAEG, GD, MGC138509, MGC142288	uc004cgd.1	P09466	OTTHUMG00000020914	ENST00000479141.1:c.534C>T	9.37:g.138457638C>T						PAEP_ENST00000277508.5_Silent_p.C178C|PAEP_ENST00000371766.2_Silent_p.C178C	p.C178C	NM_002571.2	NP_002562.2	P09466	PAEP_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;3.39e-07)|Epithelial(140;1.11e-06)|all cancers(34;2.04e-05)	6	578	+			178					Q5T6T1|Q9UG92	Silent	SNP	ENST00000479141.1	37	c.534C>T	CCDS35173.1	.	.	.	.	.	.	.	.	.	.	C	1.498	-0.552737	0.03996	.	.	ENSG00000122133	ENST00000433563;ENST00000454923;ENST00000457014	.	.	.	0.967	0.967	0.19674	.	.	.	.	.	T	0.25344	0.0616	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	T	0.23261	-1.0193	4	.	.	.	.	5.2771	0.15655	0.0:1.0:0.0:0.0	.	.	.	.	S	129;124;31	.	.	P	+	1	0	PAEP	137597459	0.098000	0.21812	0.005000	0.12908	0.010000	0.07245	0.545000	0.23268	0.822000	0.34565	0.467000	0.42956	CCG		0.617	PAEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055010.1	NM_001018049		49	81	0	0	0	1	0	49	81					T	138457638	C	T	138457638	2	4	435	1	0	0	0	0	0	0	0	1	11382	747	26	3		3	PAEP	9	138457638	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	61664	138457638	2755793	4520	25445											
CAMSAP1	157922	broad.mit.edu	37	chr9	138710412	138710412	+	Missense_Mutation	SNP	C	C	T																															actcctgcttgatgagctcgCgccgcgccttctcctcctcc																										TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:138710412C>T	ENST00000389532.4	-	13	4074	c.4010G>A	c.(4009-4011)cGc>cAc	p.R1337H	CAMSAP1_ENST00000312405.6_Missense_Mutation_p.R1059H|CAMSAP1_ENST00000409386.3_Missense_Mutation_p.R1348H|CAMSAP1_ENST00000483991.1_5'UTR	NM_015447.3	NP_056262.3	Q5T5Y3	CAMP1_HUMAN	calmodulin regulated spectrin-associated protein 1	1337					cytoskeleton organization (GO:0007010)|neuron projection development (GO:0031175)|regulation of cell morphogenesis (GO:0022604)	cytoplasm (GO:0005737)|microtubule (GO:0005874)	calmodulin binding (GO:0005516)|microtubule binding (GO:0008017)|spectrin binding (GO:0030507)			breast(3)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(11)|lung(16)|ovary(3)|pancreas(1)|skin(1)	47				OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05)		GATGAGCTCGCGCCGCGCCTT	0.637																																						ENST00000389532.4																			0				breast(3)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(11)|lung(16)|ovary(3)|pancreas(1)|skin(1)	47						c.(4009-4011)cGc>cAc		calmodulin regulated spectrin-associated protein 1							63	55	58					9																	138710412		2203	4300	6503	SO:0001583	missense	157922					cytoplasm|microtubule		g.chr9:138710412C>T	AJ519841	CCDS35176.2	9q34.3	2008-02-05			ENSG00000130559	ENSG00000130559			19946	protein-coding gene	gene with protein product		613774				12477932	Standard	NM_015447		Approved	FLJ31228, DKFZp434F195	uc004cgr.4	Q5T5Y3	OTTHUMG00000020918	ENST00000389532.4:c.4010G>A	9.37:g.138710412C>T	ENSP00000374183:p.Arg1337His					CAMSAP1_ENST00000483991.1_5'UTR|CAMSAP1_ENST00000409386.3_Missense_Mutation_p.R1348H|CAMSAP1_ENST00000312405.6_Missense_Mutation_p.R1059H	p.R1337H	NM_015447.3	NP_056262.3	Q5T5Y3	CAMP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05)	13	4074	-			1337					A1L4L2|B2REB2|B2REB3|Q70W33|Q8NCY0|Q96E80|Q96FM3|Q9UFJ5	Missense_Mutation	SNP	ENST00000389532.4	37	c.4010G>A	CCDS35176.2	.	.	.	.	.	.	.	.	.	.	C	32	5.163426	0.94727	.	.	ENSG00000130559	ENST00000389532;ENST00000312405;ENST00000409386	T;T;T	0.26518	1.76;1.73;1.75	5.16	5.16	0.70880	.	0.000000	0.85682	D	0.000000	T	0.53238	0.1784	M	0.75264	2.295	0.80722	D	1	D;D	0.89917	0.999;1.0	P;D	0.72982	0.87;0.979	T	0.58205	-0.7677	10	0.87932	D	0	.	18.6358	0.91378	0.0:1.0:0.0:0.0	.	1337;1348	Q5T5Y3;Q5T5Y3-3	CAMP1_HUMAN;.	H	1337;1059;1348	ENSP00000374183:R1337H;ENSP00000312463:R1059H;ENSP00000386420:R1348H	ENSP00000312463:R1059H	R	-	2	0	CAMSAP1	137850233	1.000000	0.71417	0.299000	0.25016	0.872000	0.50106	7.706000	0.84615	2.386000	0.81285	0.655000	0.94253	CGC		0.637	CAMSAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055024.2	XM_351857		18	26	0	0	0	1	0	18	26					T	138710412	C	T	138710412	3	4	435	1	0	0	0	0	1	0	0	0	2611	768	27	1	818	1	CAMSAP1	9	138710412	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	252774	138710412	2503019	4521	25446	120	2									
CAMSAP1	157922	broad.mit.edu	37	chr9	138710415	138710415	+	Missense_Mutation	SNP	C	C	T																															cctgcttgatgagctcgcgcCgcgccttctcctcctccttc																										TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:138710415C>T	ENST00000389532.4	-	13	4071	c.4007G>A	c.(4006-4008)cGg>cAg	p.R1336Q	CAMSAP1_ENST00000312405.6_Missense_Mutation_p.R1058Q|CAMSAP1_ENST00000409386.3_Missense_Mutation_p.R1347Q|CAMSAP1_ENST00000483991.1_5'UTR	NM_015447.3	NP_056262.3	Q5T5Y3	CAMP1_HUMAN	calmodulin regulated spectrin-associated protein 1	1336					cytoskeleton organization (GO:0007010)|neuron projection development (GO:0031175)|regulation of cell morphogenesis (GO:0022604)	cytoplasm (GO:0005737)|microtubule (GO:0005874)	calmodulin binding (GO:0005516)|microtubule binding (GO:0008017)|spectrin binding (GO:0030507)			breast(3)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(11)|lung(16)|ovary(3)|pancreas(1)|skin(1)	47				OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05)		GAGCTCGCGCCGCGCCTTCTC	0.632																																						ENST00000389532.4																			0				breast(3)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(11)|lung(16)|ovary(3)|pancreas(1)|skin(1)	47						c.(4006-4008)cGg>cAg		calmodulin regulated spectrin-associated protein 1							62	55	57					9																	138710415		2203	4300	6503	SO:0001583	missense	157922					cytoplasm|microtubule		g.chr9:138710415C>T	AJ519841	CCDS35176.2	9q34.3	2008-02-05			ENSG00000130559	ENSG00000130559			19946	protein-coding gene	gene with protein product		613774				12477932	Standard	NM_015447		Approved	FLJ31228, DKFZp434F195	uc004cgr.4	Q5T5Y3	OTTHUMG00000020918	ENST00000389532.4:c.4007G>A	9.37:g.138710415C>T	ENSP00000374183:p.Arg1336Gln					CAMSAP1_ENST00000483991.1_5'UTR|CAMSAP1_ENST00000409386.3_Missense_Mutation_p.R1347Q|CAMSAP1_ENST00000312405.6_Missense_Mutation_p.R1058Q	p.R1336Q	NM_015447.3	NP_056262.3	Q5T5Y3	CAMP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05)	13	4071	-			1336					A1L4L2|B2REB2|B2REB3|Q70W33|Q8NCY0|Q96E80|Q96FM3|Q9UFJ5	Missense_Mutation	SNP	ENST00000389532.4	37	c.4007G>A	CCDS35176.2	.	.	.	.	.	.	.	.	.	.	C	32	5.134924	0.94517	.	.	ENSG00000130559	ENST00000389532;ENST00000312405;ENST00000409386	T;T;T	0.33865	1.4;1.51;1.39	5.16	5.16	0.70880	.	0.000000	0.85682	D	0.000000	T	0.63663	0.2530	M	0.77103	2.36	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.97110	0.996;1.0	T	0.68640	-0.5355	10	0.87932	D	0	.	18.6358	0.91378	0.0:1.0:0.0:0.0	.	1336;1347	Q5T5Y3;Q5T5Y3-3	CAMP1_HUMAN;.	Q	1336;1058;1347	ENSP00000374183:R1336Q;ENSP00000312463:R1058Q;ENSP00000386420:R1347Q	ENSP00000312463:R1058Q	R	-	2	0	CAMSAP1	137850236	1.000000	0.71417	0.270000	0.24601	0.922000	0.55478	5.983000	0.70540	2.386000	0.81285	0.655000	0.94253	CGG		0.632	CAMSAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055024.2	XM_351857		3	39	0	0	0	1	0	3	39					T	138710415	C	T	138710415	3	4	435	1	0	0	0	0	1	0	0	0	2611	652	23	2	821	2	CAMSAP1	9	138710415	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	3	138710415	2503016	4522	25447	120	2									
CAMSAP1	157922	broad.mit.edu	37	chr9	138742168	138742168	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gccaaataattcgttattacCttcaacactaatggcgcata	14	12	5	10	2	1	0	1	0	0	0	2	0	1	0	2	1	2	2	2	1	7	7			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:138742168C>A	ENST00000389532.4	-	6	1012	c.948G>T	c.(946-948)aaG>aaT	p.K316N	CAMSAP1_ENST00000312405.6_Splice_Site_p.K38N|CAMSAP1_ENST00000409386.3_Splice_Site_p.K327N	NM_015447.3	NP_056262.3	Q5T5Y3	CAMP1_HUMAN	calmodulin regulated spectrin-associated protein 1	316	CH.				cytoskeleton organization (GO:0007010)|neuron projection development (GO:0031175)|regulation of cell morphogenesis (GO:0022604)	cytoplasm (GO:0005737)|microtubule (GO:0005874)	calmodulin binding (GO:0005516)|microtubule binding (GO:0008017)|spectrin binding (GO:0030507)			breast(3)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(11)|lung(16)|ovary(3)|pancreas(1)|skin(1)	47				OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05)		TCGTTATTACCTTCAACACTA	0.318																																						ENST00000389532.4																			0				breast(3)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(11)|lung(16)|ovary(3)|pancreas(1)|skin(1)	47						c.e6+1		calmodulin regulated spectrin-associated protein 1							72	77	75					9																	138742168		2203	4300	6503	SO:0001630	splice_region_variant	157922					cytoplasm|microtubule		g.chr9:138742168C>A	AJ519841	CCDS35176.2	9q34.3	2008-02-05			ENSG00000130559	ENSG00000130559			19946	protein-coding gene	gene with protein product		613774				12477932	Standard	NM_015447		Approved	FLJ31228, DKFZp434F195	uc004cgr.4	Q5T5Y3	OTTHUMG00000020918	ENST00000389532.4:c.948+1G>T	9.37:g.138742168C>A						CAMSAP1_ENST00000409386.3_Splice_Site_p.K327_splice|CAMSAP1_ENST00000312405.6_Splice_Site_p.K38_splice	p.K316_splice	NM_015447.3	NP_056262.3	Q5T5Y3	CAMP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05)	6	1012	-			316			CH.		A1L4L2|B2REB2|B2REB3|Q70W33|Q8NCY0|Q96E80|Q96FM3|Q9UFJ5	Splice_Site	SNP	ENST00000389532.4	37	c.948_splice	CCDS35176.2	.	.	.	.	.	.	.	.	.	.	C	29.1	4.977580	0.92982	.	.	ENSG00000130559	ENST00000389532;ENST00000312405;ENST00000409386	D;D;T	0.95788	-3.81;-3.81;1.62	5.57	5.57	0.84162	Calponin homology domain (2);	0.092609	0.64402	D	0.000001	D	0.97801	0.9278	M	0.80183	2.485	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.97501	1.0060	9	.	.	.	-3.7611	19.9147	0.97053	0.0:1.0:0.0:0.0	.	316;327	Q5T5Y3;Q5T5Y3-3	CAMP1_HUMAN;.	N	316;38;327	ENSP00000374183:K316N;ENSP00000312463:K38N;ENSP00000386420:K327N	.	K	-	3	2	CAMSAP1	137881989	1.000000	0.71417	1.000000	0.80357	0.885000	0.51271	7.250000	0.78287	2.775000	0.95449	0.655000	0.94253	AAG		0.318	CAMSAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055024.2	XM_351857	Missense_Mutation	36	37	1	0	4.62619e-21	1	5.13336e-21	36	37					A	138742168	C	A	138742168	5	1	435	1	0	0	0	0	0	0	1	0	2611	695	24	5	3908	5	CAMSAP1	9	138742168	Splice_Site	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	31753	138742168	2471263	4523	25448											
CARD9	64170	broad.mit.edu	37	chr9	139264857	139264857	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	cagtcctcctccagtacctgGatgtaggggctgctcctgtc	5	11	11	14	0	0	0	0	0	0	0	5	1	4	1	5	3	2	4	5	3	2	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:139264857G>A	ENST00000371732.5	-	6	1005	c.840C>T	c.(838-840)atC>atT	p.I280I	CARD9_ENST00000460290.1_5'Flank|CARD9_ENST00000371734.3_Silent_p.I280I|CARD9_ENST00000315908.7_Silent_p.I280I	NM_052813.4	NP_434700.2	Q9H257	CARD9_HUMAN	caspase recruitment domain family, member 9	280					defense response to Gram-positive bacterium (GO:0050830)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of JNK cascade (GO:0046330)|positive regulation of stress-activated MAPK cascade (GO:0032874)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of apoptotic process (GO:0042981)|regulation of interleukin-2 biosynthetic process (GO:0045076)|regulation of interleukin-6 biosynthetic process (GO:0045408)|regulation of tumor necrosis factor biosynthetic process (GO:0042534)|response to drug (GO:0042493)|response to exogenous dsRNA (GO:0043330)|response to fungus (GO:0009620)|response to muramyl dipeptide (GO:0032495)|response to peptidoglycan (GO:0032494)	cytoplasm (GO:0005737)	CARD domain binding (GO:0050700)|protein homodimerization activity (GO:0042803)			endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|pancreas(1)|prostate(3)|skin(1)	15		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;4.58e-06)|Epithelial(140;5.65e-06)		CCAGTACCTGGATGTAGGGGC	0.687																																						ENST00000371732.5																			0				endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|pancreas(1)|prostate(3)|skin(1)	15						c.(838-840)atC>atT		caspase recruitment domain family, member 9							33	35	34					9																	139264857		2193	4298	6491	SO:0001819	synonymous_variant	64170				positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of JNK cascade|positive regulation of stress-activated MAPK cascade|regulation of apoptosis	cytoplasm	CARD domain binding|protein homodimerization activity	g.chr9:139264857G>A	AF311287	CCDS6997.1, CCDS48057.1	9q34	2014-09-17			ENSG00000187796	ENSG00000187796			16391	protein-coding gene	gene with protein product		607212				11053425	Standard	NM_052813		Approved		uc004chg.3	Q9H257	OTTHUMG00000020925	ENST00000371732.5:c.840C>T	9.37:g.139264857G>A						CARD9_ENST00000371734.3_Silent_p.I280I|CARD9_ENST00000315908.7_Silent_p.I280I	p.I280I	NM_052813.4	NP_434700.2	Q9H257	CARD9_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;4.58e-06)|Epithelial(140;5.65e-06)	6	1005	-		Myeloproliferative disorder(178;0.0511)	280					Q5SXM5|Q5SXM6|Q9H854	Silent	SNP	ENST00000371732.5	37	c.840C>T	CCDS6997.1																																																																																				0.687	CARD9-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055053.1	NM_052813		7	8	0	0	0	1	0	7	8					A	139264857	G	A	139264857	2	1	435	1	0	0	0	0	0	0	0	1	2652	1164	41	3		3	CARD9	9	139264857	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	522689	139264857	1948574	4524	25449											
PMPCA	23203	broad.mit.edu	37	chr9	139311544	139311544	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tgctggccggcgtgggcgtgGagcacgagcatctggtggac	5	7	19	10	4	1	0	0	0	1	0	1	3	1	2	1	6	3	3	1	6	0	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:139311544G>A	ENST00000371717.3	+	7	784	c.775G>A	c.(775-777)Gag>Aag	p.E259K	PMPCA_ENST00000462616.1_3'UTR|PMPCA_ENST00000399219.3_Missense_Mutation_p.E128K	NM_001282946.1|NM_015160.1	NP_001269875.1|NP_055975.1	Q10713	MPPA_HUMAN	peptidase (mitochondrial processing) alpha	259					cellular protein metabolic process (GO:0044267)|protein targeting to mitochondrion (GO:0006626)|proteolysis (GO:0006508)	extracellular space (GO:0005615)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			endometrium(3)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|urinary_tract(1)	14		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;9.3e-06)|Epithelial(140;1.15e-05)		CGTGGGCGTGGAGCACGAGCA	0.622																																						ENST00000371717.3																			0				endometrium(3)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|urinary_tract(1)	14						c.(775-777)Gag>Aag		peptidase (mitochondrial processing) alpha							56	44	48					9																	139311544		2203	4300	6503	SO:0001583	missense	23203				proteolysis	mitochondrial inner membrane|mitochondrial matrix	metalloendopeptidase activity|zinc ion binding	g.chr9:139311544G>A	D21064	CCDS35180.1, CCDS65192.1	9q34.3	2008-02-05	2003-06-13	2003-06-20	ENSG00000165688	ENSG00000165688			18667	protein-coding gene	gene with protein product		613036	"inositol polyphosphate-5-phosphatase, 72 kD"	INPP5E		8590280, 7788527	Standard	NM_015160		Approved	KIAA0123, Alpha-MPP	uc004chl.3	Q10713	OTTHUMG00000020926	ENST00000371717.3:c.775G>A	9.37:g.139311544G>A	ENSP00000360782:p.Glu259Lys					PMPCA_ENST00000462616.1_3'UTR|PMPCA_ENST00000399219.3_Missense_Mutation_p.E128K	p.E259K	NM_015160.1	NP_055975.1	Q10713	MPPA_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;9.3e-06)|Epithelial(140;1.15e-05)	7	784	+		Myeloproliferative disorder(178;0.0821)	259					B4DKL3|E7ET61|Q16639|Q5SXM9|Q8N513	Missense_Mutation	SNP	ENST00000371717.3	37	c.775G>A	CCDS35180.1	.	.	.	.	.	.	.	.	.	.	G	18.40	3.616713	0.66672	.	.	ENSG00000165688	ENST00000371717;ENST00000399219	T;T	0.42513	0.97;1.47	5.81	5.81	0.92471	Peptidase M16, C-terminal (1);Peptidase M16, core (1);Metalloenzyme, LuxS/M16 peptidase-like, metal-binding (1);	0.000000	0.85682	D	0.000000	T	0.41994	0.1183	L	0.41573	1.285	0.80722	D	1	B;B;B	0.32324	0.364;0.364;0.364	B;B;B	0.37943	0.188;0.261;0.261	T	0.12293	-1.0553	10	0.26408	T	0.33	.	19.0511	0.93046	0.0:0.0:1.0:0.0	.	128;259;259	B4DKL3;Q5SXM9;Q10713	.;.;MPPA_HUMAN	K	259;128	ENSP00000360782:E259K;ENSP00000416702:E128K	ENSP00000360782:E259K	E	+	1	0	PMPCA	138431365	1.000000	0.71417	0.829000	0.32907	0.120000	0.20174	9.520000	0.98027	2.740000	0.93945	0.609000	0.83330	GAG		0.622	PMPCA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055054.1	NM_015160		4	25	0	0	0	1	0	4	25					A	139311544	G	A	139311544	3	1	435	1	0	0	0	0	1	0	0	0	12140	1175	41	3	801	3	PMPCA	9	139311544	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	46687	139311544	1901887	4525	25450											
PMPCA	23203	broad.mit.edu	37	chr9	139311571	139311571	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agcatctggtggactgtgccCggaagtacctcctgggggtc	6	9	15	11	1	1	0	0	0	1	0	3	2	2	2	3	5	3	2	3	5	2	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:139311571C>T	ENST00000371717.3	+	7	811	c.802C>T	c.(802-804)Cgg>Tgg	p.R268W	PMPCA_ENST00000462616.1_3'UTR|PMPCA_ENST00000399219.3_Missense_Mutation_p.R137W	NM_001282946.1|NM_015160.1	NP_001269875.1|NP_055975.1	Q10713	MPPA_HUMAN	peptidase (mitochondrial processing) alpha	268					cellular protein metabolic process (GO:0044267)|protein targeting to mitochondrion (GO:0006626)|proteolysis (GO:0006508)	extracellular space (GO:0005615)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			endometrium(3)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|urinary_tract(1)	14		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;9.3e-06)|Epithelial(140;1.15e-05)		GGACTGTGCCCGGAAGTACCT	0.637																																						ENST00000371717.3																			0				endometrium(3)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|urinary_tract(1)	14						c.(802-804)Cgg>Tgg		peptidase (mitochondrial processing) alpha							40	35	37					9																	139311571		2203	4299	6502	SO:0001583	missense	23203				proteolysis	mitochondrial inner membrane|mitochondrial matrix	metalloendopeptidase activity|zinc ion binding	g.chr9:139311571C>T	D21064	CCDS35180.1, CCDS65192.1	9q34.3	2008-02-05	2003-06-13	2003-06-20	ENSG00000165688	ENSG00000165688			18667	protein-coding gene	gene with protein product		613036	"inositol polyphosphate-5-phosphatase, 72 kD"	INPP5E		8590280, 7788527	Standard	NM_015160		Approved	KIAA0123, Alpha-MPP	uc004chl.3	Q10713	OTTHUMG00000020926	ENST00000371717.3:c.802C>T	9.37:g.139311571C>T	ENSP00000360782:p.Arg268Trp					PMPCA_ENST00000462616.1_3'UTR|PMPCA_ENST00000399219.3_Missense_Mutation_p.R137W	p.R268W	NM_015160.1	NP_055975.1	Q10713	MPPA_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;9.3e-06)|Epithelial(140;1.15e-05)	7	811	+		Myeloproliferative disorder(178;0.0821)	268					B4DKL3|E7ET61|Q16639|Q5SXM9|Q8N513	Missense_Mutation	SNP	ENST00000371717.3	37	c.802C>T	CCDS35180.1	.	.	.	.	.	.	.	.	.	.	C	16.54	3.152615	0.57259	.	.	ENSG00000165688	ENST00000371717;ENST00000399219	T;T	0.32023	3.08;1.47	5.81	0.797	0.18654	Peptidase M16, C-terminal (1);Peptidase M16, core (1);Metalloenzyme, LuxS/M16 peptidase-like, metal-binding (1);	0.537268	0.20826	N	0.084972	T	0.43233	0.1238	M	0.64404	1.975	0.35856	D	0.827136	D;D;D	0.69078	0.995;0.997;0.997	P;P;P	0.58970	0.849;0.773;0.773	T	0.52403	-0.8580	10	0.87932	D	0	.	9.671	0.40013	0.4937:0.4378:0.0685:0.0	.	137;268;268	B4DKL3;Q5SXM9;Q10713	.;.;MPPA_HUMAN	W	268;137	ENSP00000360782:R268W;ENSP00000416702:R137W	ENSP00000360782:R268W	R	+	1	2	PMPCA	138431392	0.226000	0.23696	0.054000	0.19295	0.324000	0.28378	0.949000	0.29109	-0.068000	0.12953	-0.347000	0.07816	CGG		0.637	PMPCA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055054.1	NM_015160		9	14	0	0	0	1	0	9	14					T	139311571	C	T	139311571	3	4	435	1	0	0	0	0	1	0	0	0	12140	643	23	2	828	2	PMPCA	9	139311571	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	27	139311571	1901860	4526	25451											
SEC16A	9919	broad.mit.edu	37	chr9	139370681	139370681	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcttgattctgaacaaattCtaagttctcaacattctcat	12	17	3	9	0	5	2	2	2	5	0	7	2	5	2	0	0	2	1	0	0	4	7			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:139370681C>A	ENST00000371706.3	-	1	886	c.853G>T	c.(853-855)Gaa>Taa	p.E285*	SEC16A_ENST00000290037.6_Nonsense_Mutation_p.E285*|SEC16A_ENST00000313050.7_Nonsense_Mutation_p.E463*|SEC16A_ENST00000431893.2_Nonsense_Mutation_p.E285*			O15027	SC16A_HUMAN	SEC16 homolog A (S. cerevisiae)	285					COPII vesicle coating (GO:0048208)|endoplasmic reticulum organization (GO:0007029)|protein transport (GO:0015031)|substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)				breast(1)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(15)|lung(14)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Myeloproliferative disorder(178;0.0511)		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)		TGAACAAATTCTAAGTTCTCA	0.562																																						ENST00000313050.7																			0				breast(1)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(15)|lung(14)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						c.(1387-1389)Gaa>Taa		SEC16 homolog A (S. cerevisiae)							56	67	63					9																	139370681		2068	4242	6310	SO:0001587	stop_gained	9919				protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane		g.chr9:139370681C>A	AK074565	CCDS55351.1, CCDS75936.1	9q34.3	2007-06-20	2007-06-20	2007-06-20	ENSG00000148396	ENSG00000148396			29006	protein-coding gene	gene with protein product		612854	"KIAA0310"	KIAA0310		9205841	Standard	NM_014866		Approved	p250	uc004chx.3	O15027	OTTHUMG00000020932	ENST00000371706.3:c.853G>T	9.37:g.139370681C>A	ENSP00000360771:p.Glu285*					SEC16A_ENST00000431893.2_Nonsense_Mutation_p.E285*|SEC16A_ENST00000290037.6_Nonsense_Mutation_p.E285*|SEC16A_ENST00000371706.3_Nonsense_Mutation_p.E285*	p.E463*	NM_014866.1	NP_055681.1	O15027	SC16A_HUMAN		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)	1	1460	-		Myeloproliferative disorder(178;0.0511)	285					A1YCA4|Q4G0D7|Q5SXP0|Q5SXP1|Q8N347|Q96HP1	Nonsense_Mutation	SNP	ENST00000371706.3	37	c.1387G>T		.	.	.	.	.	.	.	.	.	.	C	37	6.440681	0.97568	.	.	ENSG00000148396	ENST00000313050;ENST00000371706;ENST00000290037;ENST00000431893;ENST00000404925	.	.	.	5.2	5.2	0.72013	.	0.055638	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-24.1434	18.08	0.89439	0.0:1.0:0.0:0.0	.	.	.	.	X	463;285;285;285;90	.	ENSP00000290037:E285X	E	-	1	0	SEC16A	138490502	1.000000	0.71417	0.157000	0.22605	0.825000	0.46686	7.634000	0.83273	2.594000	0.87642	0.655000	0.94253	GAA		0.562	SEC16A-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000055077.1	XM_088459		4	57	1	0	0.00024832	1	0.000253518	4	57					A	139370681	C	A	139370681	4	1	435	1	0	0	0	0	0	1	0	0	13986	922	32	5	5806	5	SEC16A	9	139370681	Nonsense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	59110	139370681	1842750	4527	25452											
NOTCH1	4851	broad.mit.edu	37	chr9	139391156	139391156	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtgcagcgggcctaccatGccatgctgcagggagggggc	6	6	17	12	1	0	0	0	0	0	0	0	1	0	1	3	4	6	3	3	4	1	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:139391156G>A	ENST00000277541.6	-	34	7110	c.7035C>T	c.(7033-7035)ggC>ggT	p.G2345G		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	2345					anagen (GO:0042640)|aortic valve morphogenesis (GO:0003180)|apoptotic process involved in embryonic digit morphogenesis (GO:1902263)|arterial endothelial cell differentiation (GO:0060842)|atrioventricular node development (GO:0003162)|atrioventricular valve morphogenesis (GO:0003181)|auditory receptor cell fate commitment (GO:0009912)|axonogenesis (GO:0007409)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac atrium morphogenesis (GO:0003209)|cardiac chamber formation (GO:0003207)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac left ventricle morphogenesis (GO:0003214)|cardiac muscle cell proliferation (GO:0060038)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac right atrium morphogenesis (GO:0003213)|cardiac right ventricle formation (GO:0003219)|cardiac septum morphogenesis (GO:0060411)|cardiac vascular smooth muscle cell development (GO:0060948)|cardiac ventricle morphogenesis (GO:0003208)|cell fate specification (GO:0001708)|cell migration involved in endocardial cushion formation (GO:0003273)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|cilium morphogenesis (GO:0060271)|collecting duct development (GO:0072044)|compartment pattern specification (GO:0007386)|coronary artery morphogenesis (GO:0060982)|coronary vein morphogenesis (GO:0003169)|determination of left/right symmetry (GO:0007368)|distal tubule development (GO:0072017)|embryonic hindlimb morphogenesis (GO:0035116)|endocardial cell differentiation (GO:0060956)|endocardial cushion morphogenesis (GO:0003203)|endocardium development (GO:0003157)|endocardium morphogenesis (GO:0003160)|endoderm development (GO:0007492)|epithelial to mesenchymal transition (GO:0001837)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|forebrain development (GO:0030900)|foregut morphogenesis (GO:0007440)|gene expression (GO:0010467)|glial cell differentiation (GO:0010001)|glomerular mesangial cell development (GO:0072144)|growth involved in heart morphogenesis (GO:0003241)|hair follicle morphogenesis (GO:0031069)|heart development (GO:0007507)|heart looping (GO:0001947)|heart trabecula morphogenesis (GO:0061384)|humoral immune response (GO:0006959)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|keratinocyte differentiation (GO:0030216)|left/right axis specification (GO:0070986)|liver development (GO:0001889)|lung development (GO:0030324)|mesenchymal cell development (GO:0014031)|mitral valve formation (GO:0003192)|negative regulation of anoikis (GO:2000811)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of endothelial cell chemotaxis (GO:2001027)|negative regulation of glial cell proliferation (GO:0060253)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of neurogenesis (GO:0050768)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of ossification (GO:0030279)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of photoreceptor cell differentiation (GO:0046533)|negative regulation of pro-B cell differentiation (GO:2000974)|negative regulation of stem cell differentiation (GO:2000737)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|Notch signaling pathway involved in regulation of secondary heart field cardioblast proliferation (GO:0003270)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061419)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland epithelium morphogenesis (GO:0060740)|pulmonary valve morphogenesis (GO:0003184)|regulation of epithelial cell proliferation involved in prostate gland development (GO:0060768)|regulation of extracellular matrix assembly (GO:1901201)|regulation of somitogenesis (GO:0014807)|regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003256)|regulation of transcription, DNA-templated (GO:0006355)|response to muramyl dipeptide (GO:0032495)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell division (GO:0048103)|sprouting angiogenesis (GO:0002040)|transcription initiation from RNA polymerase II promoter (GO:0006367)|tube formation (GO:0035148)|vasculogenesis involved in coronary vascular morphogenesis (GO:0060979)|venous endothelial cell differentiation (GO:0060843)|ventricular septum morphogenesis (GO:0060412)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|MAML1-RBP-Jkappa- ICN1 complex (GO:0002193)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|receptor activity (GO:0004872)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		GGCCTACCATGCCATGCTGCA	0.687			"T, Mis, O"	TRB@	T-ALL					HNSCC(8;0.001)																												ENST00000277541.6				Dom	yes		9	9q34.3	4851	"T, Mis, O"	"Notch homolog 1, translocation-associated (Drosophila) (TAN1)"			L	TRB@		T-ALL		0				breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359						c.(7033-7035)ggC>ggT		notch 1							31	36	34					9																	139391156		2033	4161	6194	SO:0001819	synonymous_variant	4851				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	g.chr9:139391156G>A	AF308602	CCDS43905.1	9q34.3	2013-01-10	2010-06-24		ENSG00000148400	ENSG00000148400		"Ankyrin repeat domain containing"	7881	protein-coding gene	gene with protein product		190198	"Notch (Drosophila) homolog 1 (translocation-associated)", "Notch homolog 1, translocation-associated (Drosophila)"	TAN1		1831692	Standard	NM_017617		Approved		uc004chz.3	P46531	OTTHUMG00000020935	ENST00000277541.6:c.7035C>T	9.37:g.139391156G>A		HNSCC(8;0.001)					p.G2345G	NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)	34	7110	-	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)	2345					Q59ED8|Q5SXM3	Silent	SNP	ENST00000277541.6	37	c.7035C>T	CCDS43905.1																																																																																				0.687	NOTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055087.1	NM_017617		10	45	0	0	0	1	0	10	45					A	139391156	G	A	139391156	2	1	435	1	0	0	0	0	0	0	0	1	10547	1306	46	3		3	NOTCH1	9	139391156	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	20475	139391156	1822275	4528	25453											
NOTCH1	4851	broad.mit.edu	37	chr9	139400023	139400023	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acgcctcctcgatcagcggcGgggggatgtcgcgcccggcc	4	5	16	16	7	1	0	1	0	0	0	4	2	2	1	4	5	1	0	4	5	0	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:139400023G>A	ENST00000277541.6	-	25	4400	c.4325C>T	c.(4324-4326)cCg>cTg	p.P1442L		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	1442					anagen (GO:0042640)|aortic valve morphogenesis (GO:0003180)|apoptotic process involved in embryonic digit morphogenesis (GO:1902263)|arterial endothelial cell differentiation (GO:0060842)|atrioventricular node development (GO:0003162)|atrioventricular valve morphogenesis (GO:0003181)|auditory receptor cell fate commitment (GO:0009912)|axonogenesis (GO:0007409)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac atrium morphogenesis (GO:0003209)|cardiac chamber formation (GO:0003207)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac left ventricle morphogenesis (GO:0003214)|cardiac muscle cell proliferation (GO:0060038)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac right atrium morphogenesis (GO:0003213)|cardiac right ventricle formation (GO:0003219)|cardiac septum morphogenesis (GO:0060411)|cardiac vascular smooth muscle cell development (GO:0060948)|cardiac ventricle morphogenesis (GO:0003208)|cell fate specification (GO:0001708)|cell migration involved in endocardial cushion formation (GO:0003273)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|cilium morphogenesis (GO:0060271)|collecting duct development (GO:0072044)|compartment pattern specification (GO:0007386)|coronary artery morphogenesis (GO:0060982)|coronary vein morphogenesis (GO:0003169)|determination of left/right symmetry (GO:0007368)|distal tubule development (GO:0072017)|embryonic hindlimb morphogenesis (GO:0035116)|endocardial cell differentiation (GO:0060956)|endocardial cushion morphogenesis (GO:0003203)|endocardium development (GO:0003157)|endocardium morphogenesis (GO:0003160)|endoderm development (GO:0007492)|epithelial to mesenchymal transition (GO:0001837)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|forebrain development (GO:0030900)|foregut morphogenesis (GO:0007440)|gene expression (GO:0010467)|glial cell differentiation (GO:0010001)|glomerular mesangial cell development (GO:0072144)|growth involved in heart morphogenesis (GO:0003241)|hair follicle morphogenesis (GO:0031069)|heart development (GO:0007507)|heart looping (GO:0001947)|heart trabecula morphogenesis (GO:0061384)|humoral immune response (GO:0006959)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|keratinocyte differentiation (GO:0030216)|left/right axis specification (GO:0070986)|liver development (GO:0001889)|lung development (GO:0030324)|mesenchymal cell development (GO:0014031)|mitral valve formation (GO:0003192)|negative regulation of anoikis (GO:2000811)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of endothelial cell chemotaxis (GO:2001027)|negative regulation of glial cell proliferation (GO:0060253)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of neurogenesis (GO:0050768)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of ossification (GO:0030279)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of photoreceptor cell differentiation (GO:0046533)|negative regulation of pro-B cell differentiation (GO:2000974)|negative regulation of stem cell differentiation (GO:2000737)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|Notch signaling pathway involved in regulation of secondary heart field cardioblast proliferation (GO:0003270)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061419)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland epithelium morphogenesis (GO:0060740)|pulmonary valve morphogenesis (GO:0003184)|regulation of epithelial cell proliferation involved in prostate gland development (GO:0060768)|regulation of extracellular matrix assembly (GO:1901201)|regulation of somitogenesis (GO:0014807)|regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003256)|regulation of transcription, DNA-templated (GO:0006355)|response to muramyl dipeptide (GO:0032495)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell division (GO:0048103)|sprouting angiogenesis (GO:0002040)|transcription initiation from RNA polymerase II promoter (GO:0006367)|tube formation (GO:0035148)|vasculogenesis involved in coronary vascular morphogenesis (GO:0060979)|venous endothelial cell differentiation (GO:0060843)|ventricular septum morphogenesis (GO:0060412)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|MAML1-RBP-Jkappa- ICN1 complex (GO:0002193)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|receptor activity (GO:0004872)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		GATCAGCGGCGGGGGGATGTC	0.677			"T, Mis, O"	TRB@	T-ALL					HNSCC(8;0.001)																												ENST00000277541.6				Dom	yes		9	9q34.3	4851	"T, Mis, O"	"Notch homolog 1, translocation-associated (Drosophila) (TAN1)"			L	TRB@		T-ALL		0				breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359						c.(4324-4326)cCg>cTg		notch 1							16	20	19					9																	139400023		2021	4148	6169	SO:0001583	missense	4851				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	g.chr9:139400023G>A	AF308602	CCDS43905.1	9q34.3	2013-01-10	2010-06-24		ENSG00000148400	ENSG00000148400		"Ankyrin repeat domain containing"	7881	protein-coding gene	gene with protein product		190198	"Notch (Drosophila) homolog 1 (translocation-associated)", "Notch homolog 1, translocation-associated (Drosophila)"	TAN1		1831692	Standard	NM_017617		Approved		uc004chz.3	P46531	OTTHUMG00000020935	ENST00000277541.6:c.4325C>T	9.37:g.139400023G>A	ENSP00000277541:p.Pro1442Leu	HNSCC(8;0.001)					p.P1442L	NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)	25	4400	-	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)	1442					Q59ED8|Q5SXM3	Missense_Mutation	SNP	ENST00000277541.6	37	c.4325C>T	CCDS43905.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.948507	0.73787	.	.	ENSG00000148400	ENST00000277541	T	0.81330	-1.48	4.45	4.45	0.53987	Notch domain (1);	0.124150	0.56097	U	0.000039	T	0.71082	0.3298	N	0.08118	0	0.80722	D	1	D	0.63046	0.992	P	0.51016	0.656	T	0.70927	-0.4739	10	0.20519	T	0.43	.	16.0816	0.81007	0.0:0.0:1.0:0.0	.	1442	P46531	NOTC1_HUMAN	L	1442	ENSP00000277541:P1442L	ENSP00000277541:P1442L	P	-	2	0	NOTCH1	138519844	1.000000	0.71417	0.921000	0.36526	0.699000	0.40488	7.457000	0.80775	2.013000	0.59113	0.579000	0.79373	CCG		0.677	NOTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055087.1	NM_017617		7	18	0	0	0	1	0	7	18					A	139400023	G	A	139400023	3	1	435	1	0	0	0	0	1	0	0	0	10547	1116	39	2	3382	2	NOTCH1	9	139400023	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	8867	139400023	1813408	4529	25454											
NOTCH1	4851	broad.mit.edu	37	chr9	139402764	139402764	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agccgctggggcactcgcagCggtactgggtgtgggtctgc	4	8	18	11	3	1	0	0	0	1	0	2	0	1	0	1	5	4	4	1	5	1	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:139402764C>T	ENST00000277541.6	-	20	3320	c.3245G>A	c.(3244-3246)cGc>cAc	p.R1082H		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	1082	EGF-like 28. {ECO:0000255|PROSITE- ProRule:PRU00076}.				anagen (GO:0042640)|aortic valve morphogenesis (GO:0003180)|apoptotic process involved in embryonic digit morphogenesis (GO:1902263)|arterial endothelial cell differentiation (GO:0060842)|atrioventricular node development (GO:0003162)|atrioventricular valve morphogenesis (GO:0003181)|auditory receptor cell fate commitment (GO:0009912)|axonogenesis (GO:0007409)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac atrium morphogenesis (GO:0003209)|cardiac chamber formation (GO:0003207)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac left ventricle morphogenesis (GO:0003214)|cardiac muscle cell proliferation (GO:0060038)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac right atrium morphogenesis (GO:0003213)|cardiac right ventricle formation (GO:0003219)|cardiac septum morphogenesis (GO:0060411)|cardiac vascular smooth muscle cell development (GO:0060948)|cardiac ventricle morphogenesis (GO:0003208)|cell fate specification (GO:0001708)|cell migration involved in endocardial cushion formation (GO:0003273)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|cilium morphogenesis (GO:0060271)|collecting duct development (GO:0072044)|compartment pattern specification (GO:0007386)|coronary artery morphogenesis (GO:0060982)|coronary vein morphogenesis (GO:0003169)|determination of left/right symmetry (GO:0007368)|distal tubule development (GO:0072017)|embryonic hindlimb morphogenesis (GO:0035116)|endocardial cell differentiation (GO:0060956)|endocardial cushion morphogenesis (GO:0003203)|endocardium development (GO:0003157)|endocardium morphogenesis (GO:0003160)|endoderm development (GO:0007492)|epithelial to mesenchymal transition (GO:0001837)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|forebrain development (GO:0030900)|foregut morphogenesis (GO:0007440)|gene expression (GO:0010467)|glial cell differentiation (GO:0010001)|glomerular mesangial cell development (GO:0072144)|growth involved in heart morphogenesis (GO:0003241)|hair follicle morphogenesis (GO:0031069)|heart development (GO:0007507)|heart looping (GO:0001947)|heart trabecula morphogenesis (GO:0061384)|humoral immune response (GO:0006959)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|keratinocyte differentiation (GO:0030216)|left/right axis specification (GO:0070986)|liver development (GO:0001889)|lung development (GO:0030324)|mesenchymal cell development (GO:0014031)|mitral valve formation (GO:0003192)|negative regulation of anoikis (GO:2000811)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of endothelial cell chemotaxis (GO:2001027)|negative regulation of glial cell proliferation (GO:0060253)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of neurogenesis (GO:0050768)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of ossification (GO:0030279)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of photoreceptor cell differentiation (GO:0046533)|negative regulation of pro-B cell differentiation (GO:2000974)|negative regulation of stem cell differentiation (GO:2000737)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|Notch signaling pathway involved in regulation of secondary heart field cardioblast proliferation (GO:0003270)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061419)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland epithelium morphogenesis (GO:0060740)|pulmonary valve morphogenesis (GO:0003184)|regulation of epithelial cell proliferation involved in prostate gland development (GO:0060768)|regulation of extracellular matrix assembly (GO:1901201)|regulation of somitogenesis (GO:0014807)|regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003256)|regulation of transcription, DNA-templated (GO:0006355)|response to muramyl dipeptide (GO:0032495)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell division (GO:0048103)|sprouting angiogenesis (GO:0002040)|transcription initiation from RNA polymerase II promoter (GO:0006367)|tube formation (GO:0035148)|vasculogenesis involved in coronary vascular morphogenesis (GO:0060979)|venous endothelial cell differentiation (GO:0060843)|ventricular septum morphogenesis (GO:0060412)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|MAML1-RBP-Jkappa- ICN1 complex (GO:0002193)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|receptor activity (GO:0004872)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		GCACTCGCAGCGGTACTGGGT	0.647			"T, Mis, O"	TRB@	T-ALL					HNSCC(8;0.001)																												ENST00000277541.6				Dom	yes		9	9q34.3	4851	"T, Mis, O"	"Notch homolog 1, translocation-associated (Drosophila) (TAN1)"			L	TRB@		T-ALL		0				breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359						c.(3244-3246)cGc>cAc		notch 1							73	92	86					9																	139402764		2122	4216	6338	SO:0001583	missense	4851				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	g.chr9:139402764C>T	AF308602	CCDS43905.1	9q34.3	2013-01-10	2010-06-24		ENSG00000148400	ENSG00000148400		"Ankyrin repeat domain containing"	7881	protein-coding gene	gene with protein product		190198	"Notch (Drosophila) homolog 1 (translocation-associated)", "Notch homolog 1, translocation-associated (Drosophila)"	TAN1		1831692	Standard	NM_017617		Approved		uc004chz.3	P46531	OTTHUMG00000020935	ENST00000277541.6:c.3245G>A	9.37:g.139402764C>T	ENSP00000277541:p.Arg1082His	HNSCC(8;0.001)					p.R1082H	NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)	20	3320	-	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)	1082			EGF-like 28.		Q59ED8|Q5SXM3	Missense_Mutation	SNP	ENST00000277541.6	37	c.3245G>A	CCDS43905.1	.	.	.	.	.	.	.	.	.	.	C	15.21	2.766724	0.49574	.	.	ENSG00000148400	ENST00000277541	T	0.61274	0.12	5.23	3.15	0.36227	EGF (1);Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.179045	0.49305	N	0.000154	T	0.34337	0.0894	N	0.11154	0.105	0.37154	D	0.902285	B	0.12630	0.006	B	0.18561	0.022	T	0.13818	-1.0495	10	0.22109	T	0.4	.	9.4694	0.38833	0.0:0.7369:0.0:0.2631	.	1082	P46531	NOTC1_HUMAN	H	1082	ENSP00000277541:R1082H	ENSP00000277541:R1082H	R	-	2	0	NOTCH1	138522585	0.999000	0.42202	0.997000	0.53966	0.959000	0.62525	0.646000	0.24797	0.450000	0.26774	0.655000	0.94253	CGC		0.647	NOTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055087.1	NM_017617		38	63	0	0	0	1	0	38	63					T	139402764	C	T	139402764	3	4	435	1	0	0	0	0	1	0	0	0	10547	768	27	1	4482	1	NOTCH1	9	139402764	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	2741	139402764	1810667	4530	25455											
NOTCH1	4851	broad.mit.edu	37	chr9	139410012	139410012	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccccgtggcggcagggctggCtggagcactcgttgatgttg	4	9	17	11	3	0	1	0	1	0	0	1	2	0	2	2	5	1	6	2	5	0	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:139410012C>A	ENST00000277541.6	-	11	1901	c.1826G>T	c.(1825-1827)aGc>aTc	p.S609I		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	609	EGF-like 16; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				anagen (GO:0042640)|aortic valve morphogenesis (GO:0003180)|apoptotic process involved in embryonic digit morphogenesis (GO:1902263)|arterial endothelial cell differentiation (GO:0060842)|atrioventricular node development (GO:0003162)|atrioventricular valve morphogenesis (GO:0003181)|auditory receptor cell fate commitment (GO:0009912)|axonogenesis (GO:0007409)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac atrium morphogenesis (GO:0003209)|cardiac chamber formation (GO:0003207)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac left ventricle morphogenesis (GO:0003214)|cardiac muscle cell proliferation (GO:0060038)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac right atrium morphogenesis (GO:0003213)|cardiac right ventricle formation (GO:0003219)|cardiac septum morphogenesis (GO:0060411)|cardiac vascular smooth muscle cell development (GO:0060948)|cardiac ventricle morphogenesis (GO:0003208)|cell fate specification (GO:0001708)|cell migration involved in endocardial cushion formation (GO:0003273)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|cilium morphogenesis (GO:0060271)|collecting duct development (GO:0072044)|compartment pattern specification (GO:0007386)|coronary artery morphogenesis (GO:0060982)|coronary vein morphogenesis (GO:0003169)|determination of left/right symmetry (GO:0007368)|distal tubule development (GO:0072017)|embryonic hindlimb morphogenesis (GO:0035116)|endocardial cell differentiation (GO:0060956)|endocardial cushion morphogenesis (GO:0003203)|endocardium development (GO:0003157)|endocardium morphogenesis (GO:0003160)|endoderm development (GO:0007492)|epithelial to mesenchymal transition (GO:0001837)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|forebrain development (GO:0030900)|foregut morphogenesis (GO:0007440)|gene expression (GO:0010467)|glial cell differentiation (GO:0010001)|glomerular mesangial cell development (GO:0072144)|growth involved in heart morphogenesis (GO:0003241)|hair follicle morphogenesis (GO:0031069)|heart development (GO:0007507)|heart looping (GO:0001947)|heart trabecula morphogenesis (GO:0061384)|humoral immune response (GO:0006959)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|keratinocyte differentiation (GO:0030216)|left/right axis specification (GO:0070986)|liver development (GO:0001889)|lung development (GO:0030324)|mesenchymal cell development (GO:0014031)|mitral valve formation (GO:0003192)|negative regulation of anoikis (GO:2000811)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of endothelial cell chemotaxis (GO:2001027)|negative regulation of glial cell proliferation (GO:0060253)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of neurogenesis (GO:0050768)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of ossification (GO:0030279)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of photoreceptor cell differentiation (GO:0046533)|negative regulation of pro-B cell differentiation (GO:2000974)|negative regulation of stem cell differentiation (GO:2000737)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|Notch signaling pathway involved in regulation of secondary heart field cardioblast proliferation (GO:0003270)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061419)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland epithelium morphogenesis (GO:0060740)|pulmonary valve morphogenesis (GO:0003184)|regulation of epithelial cell proliferation involved in prostate gland development (GO:0060768)|regulation of extracellular matrix assembly (GO:1901201)|regulation of somitogenesis (GO:0014807)|regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003256)|regulation of transcription, DNA-templated (GO:0006355)|response to muramyl dipeptide (GO:0032495)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell division (GO:0048103)|sprouting angiogenesis (GO:0002040)|transcription initiation from RNA polymerase II promoter (GO:0006367)|tube formation (GO:0035148)|vasculogenesis involved in coronary vascular morphogenesis (GO:0060979)|venous endothelial cell differentiation (GO:0060843)|ventricular septum morphogenesis (GO:0060412)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|MAML1-RBP-Jkappa- ICN1 complex (GO:0002193)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|receptor activity (GO:0004872)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		GCAGGGCTGGCTGGAGCACTC	0.697			"T, Mis, O"	TRB@	T-ALL					HNSCC(8;0.001)																												ENST00000277541.6				Dom	yes		9	9q34.3	4851	"T, Mis, O"	"Notch homolog 1, translocation-associated (Drosophila) (TAN1)"			L	TRB@		T-ALL		0				breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359						c.(1825-1827)aGc>aTc		notch 1							26	39	34					9																	139410012		2169	4276	6445	SO:0001583	missense	4851				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	g.chr9:139410012C>A	AF308602	CCDS43905.1	9q34.3	2013-01-10	2010-06-24		ENSG00000148400	ENSG00000148400		"Ankyrin repeat domain containing"	7881	protein-coding gene	gene with protein product		190198	"Notch (Drosophila) homolog 1 (translocation-associated)", "Notch homolog 1, translocation-associated (Drosophila)"	TAN1		1831692	Standard	NM_017617		Approved		uc004chz.3	P46531	OTTHUMG00000020935	ENST00000277541.6:c.1826G>T	9.37:g.139410012C>A	ENSP00000277541:p.Ser609Ile	HNSCC(8;0.001)					p.S609I	NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)	11	1901	-	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)	609			EGF-like 16; calcium-binding (Potential).		Q59ED8|Q5SXM3	Missense_Mutation	SNP	ENST00000277541.6	37	c.1826G>T	CCDS43905.1	.	.	.	.	.	.	.	.	.	.	C	24.2	4.503837	0.85176	.	.	ENSG00000148400	ENST00000277541	D	0.91577	-2.87	5.24	5.24	0.73138	EGF-like calcium-binding, conserved site (1);EGF (1);EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	D	0.000000	D	0.95484	0.8533	M	0.84433	2.695	0.80722	D	1	P	0.49862	0.929	P	0.62649	0.905	D	0.95888	0.8904	10	0.66056	D	0.02	.	17.8029	0.88593	0.0:1.0:0.0:0.0	.	609	P46531	NOTC1_HUMAN	I	609	ENSP00000277541:S609I	ENSP00000277541:S609I	S	-	2	0	NOTCH1	138529833	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	7.648000	0.83479	2.426000	0.82243	0.557000	0.71058	AGC		0.697	NOTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055087.1	NM_017617		9	12	1	0	1.08611e-07	1	1.14056e-07	9	12					A	139410012	C	A	139410012	3	1	435	1	0	0	0	0	1	0	0	0	10547	797	28	5	5937	5	NOTCH1	9	139410012	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	7248	139410012	1803419	4531	25456											
AGPAT2	10555	broad.mit.edu	37	chr9	139571064	139571064	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggactgccaggtagaaggcGcccttcttaaaaggcagcag	11	7	13	10	1	1	1	0	0	1	1	1	2	1	2	2	4	2	3	2	4	4	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:139571064G>A	ENST00000371696.2	-	4	626	c.561C>T	c.(559-561)ggC>ggT	p.G187G	AGPAT2_ENST00000538402.1_Silent_p.G187G|AGPAT2_ENST00000371694.3_Intron	NM_006412.3	NP_006403.2	O15120	PLCB_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 2	187					CDP-diacylglycerol biosynthetic process (GO:0016024)|cellular lipid metabolic process (GO:0044255)|epidermis development (GO:0008544)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidic acid biosynthetic process (GO:0006654)|phospholipid metabolic process (GO:0006644)|positive regulation of cytokine production (GO:0001819)|positive regulation of cytokine-mediated signaling pathway (GO:0001961)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	1-acylglycerol-3-phosphate O-acyltransferase activity (GO:0003841)	p.G187G(2)		endometrium(1)|large_intestine(1)|lung(2)|prostate(2)	6	all_cancers(76;0.0893)|all_epithelial(76;0.231)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;9.87e-06)|Epithelial(140;0.000123)		GGTAGAAGGCGCCCTTCTTAA	0.627																																						ENST00000371696.2																			2	Substitution - coding silent(2)	p.G187G(2)	large_intestine(1)|endometrium(1)	endometrium(1)|large_intestine(1)|lung(2)|prostate(2)	6						c.(559-561)ggC>ggT		1-acylglycerol-3-phosphate O-acyltransferase 2							112	99	104					9																	139571064		2203	4300	6503	SO:0001819	synonymous_variant	10555				phosphatidic acid biosynthetic process|positive regulation of cytokine production|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane	1-acylglycerol-3-phosphate O-acyltransferase activity	g.chr9:139571064G>A	AF000237	CCDS7003.1, CCDS35181.1	9q34.3	2013-02-05	2013-02-05		ENSG00000169692	ENSG00000169692	2.3.1.51	"1-acylglycerol-3-phosphate O-acyltransferases"	325	protein-coding gene	gene with protein product	"LPAAT-beta", "lysophosphatidic acid acyltransferase, beta"	603100	"Berardinelli-Seip congenital lipodystrophy", "1-acylglycerol-3-phosphate O-acyltransferase 2 (lysophosphatidic acid acyltransferase, beta)"	BSCL		9242711, 9212163	Standard	NM_006412		Approved		uc004cii.1	O15120	OTTHUMG00000020936	ENST00000371696.2:c.561C>T	9.37:g.139571064G>A						AGPAT2_ENST00000371694.3_Intron|AGPAT2_ENST00000538402.1_Silent_p.G187G	p.G187G	NM_006412.3	NP_006403.2	O15120	PLCB_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;9.87e-06)|Epithelial(140;0.000123)	4	626	-	all_cancers(76;0.0893)|all_epithelial(76;0.231)	Myeloproliferative disorder(178;0.0511)	187					O00516|O15106|Q5VUD3|Q5VUD4|Q9BSV7|Q9BWR7	Silent	SNP	ENST00000371696.2	37	c.561C>T	CCDS7003.1																																																																																				0.627	AGPAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055090.1	NM_006412		28	29	0	0	0	1	0	28	29					A	139571064	G	A	139571064	2	1	435	1	0	0	0	0	0	0	0	1	387	1074	38	1		1	AGPAT2	9	139571064	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	161052	139571064	1642367	4532	25457											
LCN8	138307	broad.mit.edu	37	chr9	139649707	139649707	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggctcaccaggccgggccGccaggtagagaccagtgtct	7	6	15	13	2	2	1	1	0	1	1	2	2	2	1	5	4	0	2	5	4	1	1	rs201406650		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:139649707G>A	ENST00000371688.3	-	5	705	c.410C>T	c.(409-411)gCg>gTg	p.A137V	LCN8_ENST00000482893.1_5'UTR	NM_178469.3	NP_848564.2	Q6JVE9	LCN8_HUMAN	lipocalin 8	160					response to hormone (GO:0009725)|transport (GO:0006810)	extracellular region (GO:0005576)				endometrium(1)|large_intestine(1)|lung(6)|pancreas(1)|prostate(1)	10	all_cancers(76;0.0882)|all_epithelial(76;0.228)	Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;5.56e-06)|Epithelial(140;8.32e-05)		AGGCCGGGCCGCCAGGTAGAG	0.682													G|||	1	0.000199681	0	0	5008	,	,		14576	0.001		0	False		,,,				2504	0					ENST00000371688.3																			0				endometrium(1)|large_intestine(1)|lung(6)|pancreas(1)|prostate(1)	10						c.(409-411)gCg>gTg		lipocalin 8							42	51	48					9																	139649707		2203	4300	6503	SO:0001583	missense	138307				transport	extracellular region	binding	g.chr9:139649707G>A	AK124003	CCDS35183.1	9q34.3	2011-10-24	2005-01-11		ENSG00000204001	ENSG00000204001		"Lipocalins"	27038	protein-coding gene	gene with protein product		612902	"chromosome 9 open reading frame 137", "lipocalin 5"	LCN5			Standard	XM_005266058		Approved		uc004cjb.1	Q6JVE9	OTTHUMG00000020942	ENST00000371688.3:c.410C>T	9.37:g.139649707G>A	ENSP00000360753:p.Ala137Val					LCN8_ENST00000482893.1_5'UTR	p.A137V	NM_178469.3	NP_848564.2	Q6JVE9	LCN8_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.56e-06)|Epithelial(140;8.32e-05)	5	705	-	all_cancers(76;0.0882)|all_epithelial(76;0.228)	Myeloproliferative disorder(178;0.0821)	160					A1L4A8|A6NMN9|Q5T5R4	Missense_Mutation	SNP	ENST00000371688.3	37	c.410C>T	CCDS35183.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	0.012	-1.668269	0.00765	.	.	ENSG00000204001	ENST00000371688	T	0.25749	1.78	2.76	0.113	0.14631	.	.	.	.	.	T	0.09247	0.0228	N	0.04508	-0.205	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.39522	-0.9610	9	0.11485	T	0.65	.	5.8196	0.18520	0.8083:0.0:0.1917:0.0	.	137	Q6JVE9-2	.	V	137	ENSP00000360753:A137V	ENSP00000360753:A137V	A	-	2	0	LCN8	138769528	0.000000	0.05858	0.272000	0.24630	0.536000	0.34869	-0.089000	0.11180	0.013000	0.14918	-0.320000	0.08662	GCG		0.682	LCN8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055109.1	NM_178469		19	33	0	0	0	1	0	19	33					A	139649707	G	A	139649707	3	1	435	1	0	0	0	0	1	0	0	0	8686	1087	38	1	60	1	LCN8	9	139649707	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	78643	139649707	1563724	4533	25458											
C9orf172	389813	broad.mit.edu	37	chr9	139738942	139738942	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggtggcgaccccgggacccGcgtccaagtgctcgccatgt	6	6	14	15	5	0	0	0	0	0	0	2	2	1	1	5	3	1	1	5	3	1	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:139738942G>A	ENST00000436881.1	+	1	76	c.76G>A	c.(76-78)Gcg>Acg	p.A26T		NM_001080482.2	NP_001073951.2	C9J069	CI172_HUMAN	chromosome 9 open reading frame 172	26										endometrium(2)|large_intestine(1)|lung(6)	9						CCCGGGACCCGCGTCCAAGTG	0.662																																						ENST00000436881.1																			0				endometrium(2)|large_intestine(1)|lung(6)	9						c.(76-78)Gcg>Acg		chromosome 9 open reading frame 172							23	26	25					9																	139738942		2041	4182	6223	SO:0001583	missense	389813							g.chr9:139738942G>A		CCDS48059.1	9q34.3	2012-04-03			ENSG00000232434	ENSG00000232434			37284	protein-coding gene	gene with protein product							Standard	NM_001080482		Approved		uc011meh.2	C9J069		ENST00000436881.1:c.76G>A	9.37:g.139738942G>A	ENSP00000412388:p.Ala26Thr						p.A26T	NM_001080482.2	NP_001073951.2	C9J069	CI172_HUMAN			1	76	+			26						Missense_Mutation	SNP	ENST00000436881.1	37	c.76G>A	CCDS48059.1	.	.	.	.	.	.	.	.	.	.	.	5.275	0.236226	0.10023	.	.	ENSG00000232434	ENST00000436881	.	.	.	3.86	2.93	0.34026	.	.	.	.	.	T	0.20292	0.0488	N	0.12182	0.205	0.21822	N	0.999521	B	0.02656	0.0	B	0.04013	0.001	T	0.24870	-1.0148	8	0.02654	T	1	.	9.2324	0.37446	0.114:0.0:0.886:0.0	.	26	C9J069	CI172_HUMAN	T	26	.	ENSP00000412388:A26T	A	+	1	0	C9orf172	138858763	0.000000	0.05858	0.827000	0.32855	0.660000	0.38997	0.379000	0.20585	0.567000	0.29293	0.462000	0.41574	GCG		0.662	C9orf172-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001080482		7	2	0	0	0	1	0	7	2					A	139738942	G	A	139738942	3	1	435	1	0	0	0	0	1	0	0	0	2471	1087	38	1	78	1	C9orf172	9	139738942	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	89235	139738942	1474489	4534	25459											
MAMDC4	158056	broad.mit.edu	37	chr9	139751935	139751935	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcctttgaggactcagactgCggcttctcccctggaggcca	6	10	11	14	1	2	2	1	1	1	1	4	4	3	4	4	4	1	1	4	4	0	2	rs371095605		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:139751935C>T	ENST00000317446.2	+	18	2273	c.2223C>T	c.(2221-2223)tgC>tgT	p.C741C	MAMDC4_ENST00000485732.1_3'UTR|MAMDC4_ENST00000445819.1_Silent_p.C820C	NM_206920.2	NP_996803.2			MAM domain containing 4											breast(4)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	19	all_cancers(76;0.0763)|all_epithelial(76;0.198)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;1.52e-05)|Epithelial(140;0.000171)		ACTCAGACTGCGGCTTCTCCC	0.672																																						ENST00000445819.1																			0				breast(4)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	19						c.(2458-2460)tgC>tgT		MAM domain containing 4		C		1,4397		0,1,2198	36	44	41		2223	-4.2	0.9	9		41	0,8598		0,0,4299	no	coding-synonymous	MAMDC4	NM_206920.2		0,1,6497	TT,TC,CC		0.0,0.0227,0.0077		741/1138	139751935	1,12995	2199	4299	6498	SO:0001819	synonymous_variant	158056				protein transport	integral to membrane		g.chr9:139751935C>T	AL834531	CCDS7010.1	9q34.3	2013-10-21			ENSG00000177943	ENSG00000177943			24083	protein-coding gene	gene with protein product	"apical early endosomal glycoprotein precursor", "endotubin"					7829488	Standard	NM_206920		Approved	AEGP, DKFZp434M1411	uc004cjs.3	Q6UXC1	OTTHUMG00000020951	ENST00000317446.2:c.2223C>T	9.37:g.139751935C>T						MAMDC4_ENST00000317446.2_Silent_p.C741C|MAMDC4_ENST00000485732.1_3'UTR	p.C820C			Q6UXC1	AEGP_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.52e-05)|Epithelial(140;0.000171)	20	2510	+	all_cancers(76;0.0763)|all_epithelial(76;0.198)	Myeloproliferative disorder(178;0.0511)	820			MAM 5.			Silent	SNP	ENST00000317446.2	37	c.2460C>T	CCDS7010.1	.	.	.	.	.	.	.	.	.	.	.	1.510	-0.549708	0.03996	2.27E-4	0.0	ENSG00000177943	ENST00000413647	.	.	.	4.09	-4.22	0.03800	.	.	.	.	.	T	0.55257	0.1909	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.56595	-0.7953	4	.	.	.	-15.331	11.8166	0.52214	0.0:0.5399:0.0:0.4601	.	.	.	.	W	806	.	.	R	+	1	2	MAMDC4	138871756	0.000000	0.05858	0.874000	0.34290	0.006000	0.05464	-3.428000	0.00474	-0.569000	0.06030	-0.658000	0.03865	CGG		0.672	MAMDC4-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254642.3	NM_206920		4	67	0	0	0	1	0	4	67					T	139751935	C	T	139751935	2	4	435	1	0	0	0	0	0	0	0	1	9204	776	27	1		1	MAMDC4	9	139751935	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	12993	139751935	1461496	4535	25460											
EDF1	8721	broad.mit.edu	37	chr9	139757758	139757758	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	accgtggccaggtccttctgCgtaagccccttgctctgccg	4	10	11	16	3	2	0	0	0	2	0	3	0	3	0	6	2	4	2	6	2	1	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:139757758C>T	ENST00000224073.1	-	3	300	c.273G>A	c.(271-273)acG>acA	p.T91T	EDF1_ENST00000371649.1_Silent_p.T91T|EDF1_ENST00000371648.4_Silent_p.T91T	NM_003792.2	NP_003783.1	O60869	EDF1_HUMAN	endothelial differentiation-related factor 1	91	HTH cro/C1-type. {ECO:0000255|PROSITE- ProRule:PRU00257}.|Interaction with NR5A2, PPARG and NR1H3.|Interaction with TBP and NR5A1.				endothelial cell differentiation (GO:0045446)|multicellular organismal development (GO:0007275)|positive regulation of DNA binding (GO:0043388)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of lipid metabolic process (GO:0019216)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)			lung(1)	1	all_cancers(76;0.0841)|all_epithelial(76;0.217)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;1.52e-05)|Epithelial(140;0.000171)		GGTCCTTCTGCGTAAGCCCCT	0.662																																						ENST00000371648.4																			0				lung(1)	1						c.(271-273)acG>acA		endothelial differentiation-related factor 1							130	105	113					9																	139757758		2203	4300	6503	SO:0001819	synonymous_variant	8721				endothelial cell differentiation|multicellular organismal development|positive regulation of DNA binding|positive regulation of transcription, DNA-dependent|regulation of lipid metabolic process|transcription, DNA-dependent	cytoplasm|nucleolus|nucleus	calmodulin binding|protein binding|sequence-specific DNA binding|transcription coactivator activity	g.chr9:139757758C>T	AJ005259	CCDS7011.1, CCDS7012.1, CCDS65193.1	9q34.3	2009-11-06			ENSG00000107223	ENSG00000107223			3164	protein-coding gene	gene with protein product	"multiprotein bridging factor-1"	605107				9813014, 15112053	Standard	NM_003792		Approved	EDF-1	uc004cjt.1	O60869	OTTHUMG00000020948	ENST00000224073.1:c.273G>A	9.37:g.139757758C>T						EDF1_ENST00000371649.1_Silent_p.T91T|EDF1_ENST00000224073.1_Silent_p.T91T	p.T91T	NM_153200.1	NP_694880.1	O60869	EDF1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.52e-05)|Epithelial(140;0.000171)	3	280	-	all_cancers(76;0.0841)|all_epithelial(76;0.217)	Myeloproliferative disorder(178;0.0511)	91			HTH cro/C1-type.|Interaction with NR5A2, PPARG and NR1H3.|Interaction with TBP and NR5A1.		Q5T5T2|Q9UIM1	Silent	SNP	ENST00000224073.1	37	c.273G>A	CCDS7011.1																																																																																				0.662	EDF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055143.1			19	22	0	0	0	1	0	19	22					T	139757758	C	T	139757758	2	4	435	1	0	0	0	0	0	0	0	1	4914	755	27	1		1	EDF1	9	139757758	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	5823	139757758	1455673	4536	25461											
TRAF2	7186	broad.mit.edu	37	chr9	139820270	139820270	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgccccctcttctgccccGtctccaagatggaggcaaag	7	8	10	16	1	3	1	0	0	3	1	4	2	3	2	5	2	2	2	5	2	2	1	rs148765924		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:139820270G>A	ENST00000247668.2	+	11	1475	c.1423G>A	c.(1423-1425)Gtc>Atc	p.V475I	TRAF2_ENST00000359662.3_Missense_Mutation_p.V527I|TRAF2_ENST00000536468.1_Missense_Mutation_p.V475I	NM_021138.3	NP_066961.2	Q12933	TRAF2_HUMAN	TNF receptor-associated factor 2	475	MATH. {ECO:0000255|PROSITE- ProRule:PRU00129}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of NF-kappaB-inducing kinase activity (GO:0007250)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cellular protein complex assembly (GO:0043623)|cellular response to nitric oxide (GO:0071732)|innate immune response (GO:0045087)|negative regulation of glial cell apoptotic process (GO:0034351)|negative regulation of neuron death (GO:1901215)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein homodimerization activity (GO:0090073)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell cytokine production (GO:0002726)|programmed necrotic cell death (GO:0097300)|protein autoubiquitination (GO:0051865)|protein catabolic process (GO:0030163)|protein complex assembly (GO:0006461)|protein heterooligomerization (GO:0051291)|protein homotrimerization (GO:0070207)|protein K63-linked ubiquitination (GO:0070534)|regulation of apoptotic process (GO:0042981)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|regulation of immunoglobulin secretion (GO:0051023)|signal transduction (GO:0007165)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	CD40 receptor complex (GO:0035631)|cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|membrane raft (GO:0045121)|ubiquitin ligase complex (GO:0000151)	CD40 receptor binding (GO:0005174)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|ligase activity (GO:0016874)|protein phosphatase binding (GO:0019903)|signal transducer activity (GO:0004871)|sphingolipid binding (GO:0046625)|thioesterase binding (GO:0031996)|tumor necrosis factor receptor binding (GO:0005164)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.229)	OV - Ovarian serous cystadenocarcinoma(145;4.48e-06)|Epithelial(140;9.55e-06)		CTTCTGCCCCGTCTCCAAGAT	0.567																																						ENST00000359662.3																			0				breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						c.(1579-1581)Gtc>Atc		TNF receptor-associated factor 2		G	ILE/VAL	0,4406		0,0,2203	80	68	72		1423	1.7	0.9	9	dbSNP_134	72	1,8599	1.2+/-3.3	0,1,4299	no	missense	TRAF2	NM_021138.3	29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	475/502	139820270	1,13005	2203	4300	6503	SO:0001583	missense	7186				activation of caspase activity|activation of NF-kappaB-inducing kinase activity|activation of pro-apoptotic gene products|cellular protein complex assembly|induction of apoptosis by extracellular signals|positive regulation of interleukin-2 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of T cell cytokine production|protein autoubiquitination|protein homotrimerization|protein K63-linked ubiquitination|tumor necrosis factor-mediated signaling pathway	CD40 receptor complex|cytosol|internal side of plasma membrane	CD40 receptor binding|enzyme binding|protein binding|signal transducer activity|sphingolipid binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr9:139820270G>A	U12597	CCDS7013.1	9q34	2013-01-09			ENSG00000127191	ENSG00000127191		"RING-type (C3HC4) zinc fingers"	12032	protein-coding gene	gene with protein product		601895				7639698	Standard	NM_021138		Approved	TRAP3	uc004cjv.3	Q12933	OTTHUMG00000020952	ENST00000247668.2:c.1423G>A	9.37:g.139820270G>A	ENSP00000247668:p.Val475Ile					TRAF2_ENST00000536468.1_Missense_Mutation_p.V475I|TRAF2_ENST00000247668.2_Missense_Mutation_p.V475I	p.V527I			Q12933	TRAF2_HUMAN	STAD - Stomach adenocarcinoma(284;0.229)	OV - Ovarian serous cystadenocarcinoma(145;4.48e-06)|Epithelial(140;9.55e-06)	11	1624	+	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0511)	475					A8K107|B4DPJ7|Q7Z337|Q96NT2	Missense_Mutation	SNP	ENST00000247668.2	37	c.1579G>A	CCDS7013.1	.	.	.	.	.	.	.	.	.	.	G	14.12	2.441759	0.43326	0.0	1.16E-4	ENSG00000127191	ENST00000536468;ENST00000432785;ENST00000247668;ENST00000359662;ENST00000371645	T;T;T	0.42513	0.97;0.97;0.97	4.52	1.7	0.24286	TRAF-type (1);TRAF-like (1);MATH (3);	0.133902	0.50627	N	0.000103	T	0.20901	0.0503	N	0.12182	0.205	0.42919	D	0.99428	P;P;B	0.40534	0.546;0.72;0.191	B;B;B	0.36534	0.144;0.227;0.037	T	0.03325	-1.1048	10	0.32370	T	0.25	-44.1988	8.9616	0.35851	0.2434:0.0:0.7566:0.0	.	464;450;475	Q12933-3;Q12933-4;Q12933	.;.;TRAF2_HUMAN	I	475;474;475;527;396	ENSP00000446414:V475I;ENSP00000247668:V475I;ENSP00000352685:V527I	ENSP00000247668:V475I	V	+	1	0	TRAF2	138940091	0.998000	0.40836	0.908000	0.35775	0.977000	0.68977	3.022000	0.49659	0.193000	0.20303	-0.291000	0.09656	GTC		0.567	TRAF2-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055166.1	NM_021138		17	27	0	0	0	1	0	17	27					A	139820270	G	A	139820270	3	1	435	1	0	0	0	0	1	0	0	0	16435	1145	40	1	1461	1	TRAF2	9	139820270	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	62512	139820270	1393161	4537	25462											
FBXW5	54461	broad.mit.edu	37	chr9	139835726	139835726	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccacgaagtccctgctgacGtccaggaagatgaagaagca	13	5	12	11	2	0	4	0	2	0	2	2	6	2	5	3	1	2	2	3	1	4	0	rs367827758	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:139835726G>A	ENST00000325285.3	-	8	1513	c.1434C>T	c.(1432-1434)gaC>gaT	p.D478D	FBXW5_ENST00000483559.1_5'UTR	NM_018998.3	NP_061871.1	Q969U6	FBXW5_HUMAN	F-box and WD repeat domain containing 5	478					centrosome duplication (GO:0051298)|mitotic nuclear division (GO:0007067)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination (GO:0016567)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|cytoplasm (GO:0005737)|SCF ubiquitin ligase complex (GO:0019005)	protein kinase binding (GO:0019901)			breast(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	12	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.19)	OV - Ovarian serous cystadenocarcinoma(145;7.8e-06)|Epithelial(140;0.000106)		CCCTGCTGACGTCCAGGAAGA	0.697													G|||	2	0.000399361	8e-04	0	5008	,	,		15062	0		0	False		,,,				2504	0.001					ENST00000325285.3																			0				breast(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	12						c.(1432-1434)gaC>gaT		F-box and WD repeat domain containing 5		G		1,4403	4.2+/-10.8	0,1,2201	34	28	30		1434	-6.8	0.8	9		30	0,8596		0,0,4298	no	coding-synonymous	FBXW5	NM_018998.2		0,1,6499	AA,AG,GG		0.0,0.0227,0.0077		478/567	139835726	1,12999	2202	4298	6500	SO:0001819	synonymous_variant	54461						catalytic activity|protein binding	g.chr9:139835726G>A	BC014130	CCDS7014.1	9q34.3	2013-01-09	2007-02-08		ENSG00000159069	ENSG00000159069		"F-boxes / WD-40 domains", "WD repeat domain containing"	13613	protein-coding gene	gene with protein product		609072	"F-box and WD-40 domain protein 5"				Standard	NM_018998		Approved	DKFZP434B205, MGC20962, Fbw5	uc004cjx.3	Q969U6	OTTHUMG00000020967	ENST00000325285.3:c.1434C>T	9.37:g.139835726G>A						FBXW5_ENST00000483559.1_5'UTR	p.D478D	NM_018998.3	NP_061871.1	Q969U6	FBXW5_HUMAN	STAD - Stomach adenocarcinoma(284;0.19)	OV - Ovarian serous cystadenocarcinoma(145;7.8e-06)|Epithelial(140;0.000106)	8	1513	-	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0511)	478					B2RDZ6|Q59ET5|Q5SPZ8|Q5SPZ9|Q5SQ00|Q5SQ02|Q5SQ03|Q5SQ04|Q8WY79|Q96GJ6|Q9BSU8|Q9H6A8|Q9HBQ6|Q9NSZ3	Silent	SNP	ENST00000325285.3	37	c.1434C>T	CCDS7014.1																																																																																				0.697	FBXW5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055227.1	NM_018998		9	4	0	0	0	1	0	9	4					A	139835726	G	A	139835726	2	1	435	1	0	0	0	0	0	0	0	1	5768	1136	40	1		1	FBXW5	9	139835726	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	15456	139835726	1377705	4538	25463											
C8G	733	broad.mit.edu	37	chr9	139841131	139841131	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggctgcagaccagttccaCgtcctggacggtgagtgcac	8	7	14	12	2	0	2	0	1	0	1	2	4	2	3	3	3	2	4	3	3	0	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:139841131C>T	ENST00000224181.3	+	6	645	c.585C>T	c.(583-585)caC>caT	p.H195H	FBXW5_ENST00000483559.1_5'Flank|C8G_ENST00000465773.1_3'UTR|FBXW5_ENST00000325285.3_5'Flank	NM_000606.2	NP_000597.2	P07360	CO8G_HUMAN	complement component 8, gamma polypeptide	195					complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane attack complex (GO:0005579)	retinol binding (GO:0019841)			NS(1)|prostate(1)|skin(1)	3	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.19)	OV - Ovarian serous cystadenocarcinoma(145;7.88e-06)|Epithelial(140;0.000107)		ACCAGTTCCACGTCCTGGACG	0.672																																						ENST00000224181.3																			0				NS(1)|prostate(1)|skin(1)	3						c.(583-585)caC>caT		complement component 8, gamma polypeptide							45	47	46					9																	139841131		2203	4299	6502	SO:0001819	synonymous_variant	733				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular region|membrane attack complex	retinol binding|transporter activity	g.chr9:139841131C>T	X06465	CCDS7017.1	9q	2011-11-15			ENSG00000176919	ENSG00000176919		"Complement system", "Lipocalins"	1354	protein-coding gene	gene with protein product		120930					Standard	NM_000606		Approved		uc004cka.2	P07360	OTTHUMG00000020955	ENST00000224181.3:c.585C>T	9.37:g.139841131C>T						C8G_ENST00000465773.1_3'UTR	p.H195H	NM_000606.2	NP_000597.2	P07360	CO8G_HUMAN	STAD - Stomach adenocarcinoma(284;0.19)	OV - Ovarian serous cystadenocarcinoma(145;7.88e-06)|Epithelial(140;0.000107)	6	645	+	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0511)	195					Q14CT8|Q14CU0|Q5SQ07	Silent	SNP	ENST00000224181.3	37	c.585C>T	CCDS7017.1																																																																																				0.672	C8G-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055178.1			6	13	0	0	0	1	0	6	13					T	139841131	C	T	139841131	2	4	435	1	0	0	0	0	0	0	0	1	2418	535	19	1		1	C8G	9	139841131	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	5405	139841131	1372300	4539	25464											
ABCA2	20	broad.mit.edu	37	chr9	139904444	139904444	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagatcctcacccgggcctcGtccttccaggagatcccacg	7	7	9	18	3	1	2	1	0	0	2	6	3	5	2	6	2	0	0	6	2	0	1	rs200952224		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:139904444G>A	ENST00000371605.3	-	41	6630	c.6483C>T	c.(6481-6483)gaC>gaT	p.D2161D	ABCA2_ENST00000341511.6_Silent_p.D2162D|ABCA2_ENST00000265662.5_Silent_p.D2162D			Q9BZC7	ABCA2_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 2	2161	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				ATP catabolic process (GO:0006200)|cholesterol homeostasis (GO:0042632)|lipid metabolic process (GO:0006629)|regulation of intracellular cholesterol transport (GO:0032383)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to drug (GO:0042493)|response to steroid hormone (GO:0048545)|transmembrane transport (GO:0055085)|transport (GO:0006810)	ATP-binding cassette (ABC) transporter complex (GO:0043190)|cytoplasmic membrane-bounded vesicle (GO:0016023)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|nucleotide binding (GO:0000166)			central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|liver(1)|lung(25)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	41	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		CCCGGGCCTCGTCCTTCCAGG	0.692																																						ENST00000265662.5																			0				central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|liver(1)|lung(25)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	41						c.(6484-6486)gaC>gaT		ATP-binding cassette, sub-family A (ABC1), member 2		G	,	0,4230		0,0,2115	15	19	18		6486,6576	-3	0.8	9		18	1,8463		0,1,4231	yes	coding-synonymous,coding-synonymous	ABCA2	NM_001606.4,NM_212533.2	,	0,1,6346	AA,AG,GG		0.0118,0.0,0.0079	,	2162/2437,2192/2467	139904444	1,12693	2115	4232	6347	SO:0001819	synonymous_variant	20				cholesterol homeostasis|lipid metabolic process|regulation of intracellular cholesterol transport|regulation of transcription from RNA polymerase II promoter|response to drug|response to steroid hormone stimulus	ATP-binding cassette (ABC) transporter complex|cytoplasmic membrane-bounded vesicle|endosome|integral to membrane|microtubule organizing center	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr9:139904444G>A	U18235	CCDS43909.1	9q34	2012-03-14			ENSG00000107331	ENSG00000107331		"ATP binding cassette transporters / subfamily A"	32	protein-coding gene	gene with protein product		600047		ABC2		8088782	Standard	NM_212533		Approved		uc022bpy.1	Q9BZC7	OTTHUMG00000020958	ENST00000371605.3:c.6483C>T	9.37:g.139904444G>A						ABCA2_ENST00000371605.3_Silent_p.D2161D|ABCA2_ENST00000341511.6_Silent_p.D2162D	p.D2162D			Q9BZC7	ABCA2_HUMAN	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)	42	6633	-	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	2161			ABC transporter 2.		A6NED5|Q5SPY5|Q5W9G5|Q76MW7|Q9HC28	Silent	SNP	ENST00000371605.3	37	c.6486C>T																																																																																					0.692	ABCA2-202	KNOWN	basic	protein_coding	protein_coding		NM_001606		3	5	0	0	0	1	0	3	5					A	139904444	G	A	139904444	2	1	435	1	0	0	0	0	0	0	0	1	32	1136	40	1		1	ABCA2	9	139904444	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	63313	139904444	1308987	4540	25465											
ABCA2	20	broad.mit.edu	37	chr9	139904576	139904576	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tggagcagctccttcagcacGctggggacacggcagctgtc	7	7	14	13	2	1	0	1	0	0	0	3	2	2	2	1	4	4	6	1	4	0	1	rs368639386		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:139904576G>A	ENST00000371605.3	-	41	6498	c.6351C>T	c.(6349-6351)agC>agT	p.S2117S	ABCA2_ENST00000341511.6_Splice_Site_p.S2118S|ABCA2_ENST00000265662.5_Splice_Site_p.S2118S			Q9BZC7	ABCA2_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 2	2117	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				ATP catabolic process (GO:0006200)|cholesterol homeostasis (GO:0042632)|lipid metabolic process (GO:0006629)|regulation of intracellular cholesterol transport (GO:0032383)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to drug (GO:0042493)|response to steroid hormone (GO:0048545)|transmembrane transport (GO:0055085)|transport (GO:0006810)	ATP-binding cassette (ABC) transporter complex (GO:0043190)|cytoplasmic membrane-bounded vesicle (GO:0016023)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|nucleotide binding (GO:0000166)			central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|liver(1)|lung(25)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	41	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		CCTTCAGCACGCTGGGGACAC	0.711																																						ENST00000265662.5																			0				central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|liver(1)|lung(25)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	41						c.e42-1		ATP-binding cassette, sub-family A (ABC1), member 2							9	11	10					9																	139904576		2095	4190	6285	SO:0001630	splice_region_variant	20				cholesterol homeostasis|lipid metabolic process|regulation of intracellular cholesterol transport|regulation of transcription from RNA polymerase II promoter|response to drug|response to steroid hormone stimulus	ATP-binding cassette (ABC) transporter complex|cytoplasmic membrane-bounded vesicle|endosome|integral to membrane|microtubule organizing center	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr9:139904576G>A	U18235	CCDS43909.1	9q34	2012-03-14			ENSG00000107331	ENSG00000107331		"ATP binding cassette transporters / subfamily A"	32	protein-coding gene	gene with protein product		600047		ABC2		8088782	Standard	NM_212533		Approved		uc022bpy.1	Q9BZC7	OTTHUMG00000020958	ENST00000371605.3:c.6351-1C>T	9.37:g.139904576G>A						ABCA2_ENST00000371605.3_Splice_Site_p.S2117_splice|ABCA2_ENST00000341511.6_Splice_Site_p.S2118_splice	p.S2118_splice			Q9BZC7	ABCA2_HUMAN	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)	42	6501	-	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	2117			ABC transporter 2.		A6NED5|Q5SPY5|Q5W9G5|Q76MW7|Q9HC28	Splice_Site	SNP	ENST00000371605.3	37	c.6353_splice																																																																																					0.711	ABCA2-202	KNOWN	basic	protein_coding	protein_coding		NM_001606	Silent	4	3	0	0	0	1	0	4	3					A	139904576	G	A	139904576	5	1	435	1	0	0	0	0	0	0	1	0	32	1101	38	1	988	1	ABCA2	9	139904576	Splice_Site	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	132	139904576	1308855	4541	25466											
ABCA2	20	broad.mit.edu	37	chr9	139907310	139907310	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caggagaagccggtgccctgCgcagagcaggtgcagcggac	9	3	17	12	3	0	2	0	0	0	2	0	4	0	3	2	4	6	3	2	4	1	0	rs541291575		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:139907310C>T	ENST00000371605.3	-	30	5079	c.4932G>A	c.(4930-4932)gcG>gcA	p.A1644A	ABCA2_ENST00000341511.6_Silent_p.A1645A|ABCA2_ENST00000265662.5_Silent_p.A1645A			Q9BZC7	ABCA2_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 2	1644					ATP catabolic process (GO:0006200)|cholesterol homeostasis (GO:0042632)|lipid metabolic process (GO:0006629)|regulation of intracellular cholesterol transport (GO:0032383)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to drug (GO:0042493)|response to steroid hormone (GO:0048545)|transmembrane transport (GO:0055085)|transport (GO:0006810)	ATP-binding cassette (ABC) transporter complex (GO:0043190)|cytoplasmic membrane-bounded vesicle (GO:0016023)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|nucleotide binding (GO:0000166)			central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|liver(1)|lung(25)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	41	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		CGGTGCCCTGCGCAGAGCAGG	0.687													C|||	1	0.000199681	8e-04	0	5008	,	,		12910	0		0	False		,,,				2504	0					ENST00000265662.5																			0				central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|liver(1)|lung(25)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	41						c.(4933-4935)gcG>gcA		ATP-binding cassette, sub-family A (ABC1), member 2							9	12	11					9																	139907310		1922	4063	5985	SO:0001819	synonymous_variant	20				cholesterol homeostasis|lipid metabolic process|regulation of intracellular cholesterol transport|regulation of transcription from RNA polymerase II promoter|response to drug|response to steroid hormone stimulus	ATP-binding cassette (ABC) transporter complex|cytoplasmic membrane-bounded vesicle|endosome|integral to membrane|microtubule organizing center	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr9:139907310C>T	U18235	CCDS43909.1	9q34	2012-03-14			ENSG00000107331	ENSG00000107331		"ATP binding cassette transporters / subfamily A"	32	protein-coding gene	gene with protein product		600047		ABC2		8088782	Standard	NM_212533		Approved		uc022bpy.1	Q9BZC7	OTTHUMG00000020958	ENST00000371605.3:c.4932G>A	9.37:g.139907310C>T						ABCA2_ENST00000371605.3_Silent_p.A1644A|ABCA2_ENST00000341511.6_Silent_p.A1645A	p.A1645A			Q9BZC7	ABCA2_HUMAN	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)	31	5082	-	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	1644					A6NED5|Q5SPY5|Q5W9G5|Q76MW7|Q9HC28	Silent	SNP	ENST00000371605.3	37	c.4935G>A		.	.	.	.	.	.	.	.	.	.	C	8.264	0.811901	0.16537	.	.	ENSG00000107331	ENST00000477420	.	.	.	4.15	-3.79	0.04320	.	1.938260	0.02926	U	0.138558	T	0.33585	0.0868	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.15723	-1.0427	6	0.11794	T	0.64	.	5.5432	0.17049	0.0:0.4346:0.3086:0.2568	.	.	.	.	T	57	.	ENSP00000418732:A57T	A	-	1	0	ABCA2	139027131	0.808000	0.29022	0.050000	0.19076	0.653000	0.38743	0.023000	0.13533	-1.156000	0.02818	-0.339000	0.08088	GCA		0.687	ABCA2-202	KNOWN	basic	protein_coding	protein_coding		NM_001606		7	3	0	0	0	1	0	7	3					T	139907310	C	T	139907310	2	4	435	1	0	0	0	0	0	0	0	1	32	755	27	1		1	ABCA2	9	139907310	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	2734	139907310	1306121	4542	25467											
ABCA2	20	broad.mit.edu	37	chr9	139912118	139912118	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caggccacccagtgcaccgcGttgttcaggcccatggtctt	6	9	11	15	2	2	0	1	0	1	0	2	0	2	0	4	3	1	3	4	3	0	3	rs368981949		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:139912118G>A	ENST00000371605.3	-	16	2382	c.2235C>T	c.(2233-2235)aaC>aaT	p.N745N	ABCA2_ENST00000492260.1_5'Flank|ABCA2_ENST00000341511.6_Silent_p.N746N|ABCA2_ENST00000265662.5_Silent_p.N746N			Q9BZC7	ABCA2_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 2	745					ATP catabolic process (GO:0006200)|cholesterol homeostasis (GO:0042632)|lipid metabolic process (GO:0006629)|regulation of intracellular cholesterol transport (GO:0032383)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to drug (GO:0042493)|response to steroid hormone (GO:0048545)|transmembrane transport (GO:0055085)|transport (GO:0006810)	ATP-binding cassette (ABC) transporter complex (GO:0043190)|cytoplasmic membrane-bounded vesicle (GO:0016023)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|nucleotide binding (GO:0000166)			central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|liver(1)|lung(25)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	41	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		AGTGCACCGCGTTGTTCAGGC	0.677																																						ENST00000265662.5																			0				central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|liver(1)|lung(25)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	41						c.(2236-2238)aaC>aaT		ATP-binding cassette, sub-family A (ABC1), member 2		G	,	1,4159		0,1,2079	62	71	68		2238,2328	-3	0.9	9		68	0,8396		0,0,4198	no	coding-synonymous,coding-synonymous	ABCA2	NM_001606.4,NM_212533.2	,	0,1,6277	AA,AG,GG		0.0,0.024,0.0080	,	746/2437,776/2467	139912118	1,12555	2080	4198	6278	SO:0001819	synonymous_variant	20				cholesterol homeostasis|lipid metabolic process|regulation of intracellular cholesterol transport|regulation of transcription from RNA polymerase II promoter|response to drug|response to steroid hormone stimulus	ATP-binding cassette (ABC) transporter complex|cytoplasmic membrane-bounded vesicle|endosome|integral to membrane|microtubule organizing center	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr9:139912118G>A	U18235	CCDS43909.1	9q34	2012-03-14			ENSG00000107331	ENSG00000107331		"ATP binding cassette transporters / subfamily A"	32	protein-coding gene	gene with protein product		600047		ABC2		8088782	Standard	NM_212533		Approved		uc022bpy.1	Q9BZC7	OTTHUMG00000020958	ENST00000371605.3:c.2235C>T	9.37:g.139912118G>A						ABCA2_ENST00000371605.3_Silent_p.N745N|ABCA2_ENST00000341511.6_Silent_p.N746N	p.N746N			Q9BZC7	ABCA2_HUMAN	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)	17	2385	-	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	745					A6NED5|Q5SPY5|Q5W9G5|Q76MW7|Q9HC28	Silent	SNP	ENST00000371605.3	37	c.2238C>T																																																																																					0.677	ABCA2-202	KNOWN	basic	protein_coding	protein_coding		NM_001606		10	26	0	0	0	1	0	10	26					A	139912118	G	A	139912118	2	1	435	1	0	0	0	0	0	0	0	1	32	1136	40	1		1	ABCA2	9	139912118	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	4808	139912118	1301313	4543	25468											
ABCA2	20	broad.mit.edu	37	chr9	139913201	139913201	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	agtgacgttgtcctggtaggCctggttgagggtgtagttga	6	13	17	5	1	0	3	0	3	0	0	1	3	1	3	2	4	0	5	2	4	2	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:139913201C>T	ENST00000371605.3	-	12	1933	c.1786G>A	c.(1786-1788)Gcc>Acc	p.A596T	ABCA2_ENST00000492260.1_5'UTR|ABCA2_ENST00000341511.6_Missense_Mutation_p.A597T|ABCA2_ENST00000265662.5_Missense_Mutation_p.A597T			Q9BZC7	ABCA2_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 2	596					ATP catabolic process (GO:0006200)|cholesterol homeostasis (GO:0042632)|lipid metabolic process (GO:0006629)|regulation of intracellular cholesterol transport (GO:0032383)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to drug (GO:0042493)|response to steroid hormone (GO:0048545)|transmembrane transport (GO:0055085)|transport (GO:0006810)	ATP-binding cassette (ABC) transporter complex (GO:0043190)|cytoplasmic membrane-bounded vesicle (GO:0016023)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|nucleotide binding (GO:0000166)			central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|liver(1)|lung(25)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	41	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		TCCTGGTAGGCCTGGTTGAGG	0.657																																						ENST00000265662.5																			0				central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|liver(1)|lung(25)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	41						c.(1789-1791)Gcc>Acc		ATP-binding cassette, sub-family A (ABC1), member 2							65	69	68					9																	139913201		2031	4176	6207	SO:0001583	missense	20				cholesterol homeostasis|lipid metabolic process|regulation of intracellular cholesterol transport|regulation of transcription from RNA polymerase II promoter|response to drug|response to steroid hormone stimulus	ATP-binding cassette (ABC) transporter complex|cytoplasmic membrane-bounded vesicle|endosome|integral to membrane|microtubule organizing center	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr9:139913201C>T	U18235	CCDS43909.1	9q34	2012-03-14			ENSG00000107331	ENSG00000107331		"ATP binding cassette transporters / subfamily A"	32	protein-coding gene	gene with protein product		600047		ABC2		8088782	Standard	NM_212533		Approved		uc022bpy.1	Q9BZC7	OTTHUMG00000020958	ENST00000371605.3:c.1786G>A	9.37:g.139913201C>T	ENSP00000360666:p.Ala596Thr					ABCA2_ENST00000492260.1_5'UTR|ABCA2_ENST00000371605.3_Missense_Mutation_p.A596T|ABCA2_ENST00000341511.6_Missense_Mutation_p.A597T	p.A597T			Q9BZC7	ABCA2_HUMAN	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)	13	1936	-	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	596					A6NED5|Q5SPY5|Q5W9G5|Q76MW7|Q9HC28	Missense_Mutation	SNP	ENST00000371605.3	37	c.1789G>A		.	.	.	.	.	.	.	.	.	.	c	20.3	3.958974	0.74016	.	.	ENSG00000107331	ENST00000265662;ENST00000371605;ENST00000355090;ENST00000341511	D;D;D	0.87412	-2.25;-2.25;-2.25	4.14	4.14	0.48551	.	0.482935	0.22417	U	0.060334	D	0.84488	0.5483	M	0.67953	2.075	0.80722	D	1	P;B	0.41748	0.761;0.43	B;B	0.33121	0.158;0.13	D	0.86957	0.2089	10	0.56958	D	0.05	.	16.3998	0.83635	0.0:1.0:0.0:0.0	.	596;627	Q9BZC7;E7ETC3	ABCA2_HUMAN;.	T	597;596;627;597	ENSP00000265662:A597T;ENSP00000360666:A596T;ENSP00000344155:A597T	ENSP00000265662:A597T	A	-	1	0	ABCA2	139033022	1.000000	0.71417	1.000000	0.80357	0.907000	0.53573	7.555000	0.82223	1.856000	0.53863	0.486000	0.48141	GCC		0.657	ABCA2-202	KNOWN	basic	protein_coding	protein_coding		NM_001606		16	26	0	0	0	1	0	16	26					T	139913201	C	T	139913201	3	4	435	1	0	0	0	0	1	0	0	0	32	739	26	3	5669	3	ABCA2	9	139913201	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	1083	139913201	1300230	4544	25469											
NPDC1	56654	broad.mit.edu	37	chr9	139937391	139937391	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tctcgtacctggaggccggcGcatcctgggcacacagagcc	7	6	13	15	3	1	1	0	0	1	1	3	2	2	2	4	4	2	3	4	4	1	1	rs374659308		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:139937391G>A	ENST00000371601.4	-	2	460	c.247C>T	c.(247-249)Cgc>Tgc	p.R83C	NPDC1_ENST00000371600.3_Missense_Mutation_p.R161C|NPDC1_ENST00000488145.1_5'UTR	NM_015392.3	NP_056207.3	Q9NQX5	NPDC1_HUMAN	neural proliferation, differentiation and control, 1	83						integral component of membrane (GO:0016021)				NS(1)|large_intestine(1)|lung(1)|prostate(1)|urinary_tract(1)	5	all_cancers(76;0.0926)	Myeloproliferative disorder(178;0.0821)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.96e-05)|Epithelial(140;0.000486)		GGAGGCCGGCGCATCCTGGGC	0.657																																						ENST00000371600.3																			0				NS(1)|large_intestine(1)|lung(1)|prostate(1)|urinary_tract(1)	5						c.(481-483)Cgc>Tgc		neural proliferation, differentiation and control, 1		G	CYS/ARG	1,4403	2.1+/-5.4	0,1,2201	39	39	39		247	3.6	0	9		39	0,8598		0,0,4299	no	missense	NPDC1	NM_015392.3	180	0,1,6500	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	83/326	139937391	1,13001	2202	4299	6501	SO:0001583	missense	56654					integral to membrane		g.chr9:139937391G>A	AF285836	CCDS7024.1	9q34.3	2008-07-21			ENSG00000107281	ENSG00000107281			7899	protein-coding gene	gene with protein product		605798				11245976	Standard	NM_015392		Approved	DKFZp586J0523, CAB-, CAB1	uc004ckt.2	Q9NQX5	OTTHUMG00000020956	ENST00000371601.4:c.247C>T	9.37:g.139937391G>A	ENSP00000360660:p.Arg83Cys					NPDC1_ENST00000488145.1_5'UTR|NPDC1_ENST00000371601.4_Missense_Mutation_p.R83C	p.R161C			Q9NQX5	NPDC1_HUMAN	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.96e-05)|Epithelial(140;0.000486)	1	1153	-	all_cancers(76;0.0926)	Myeloproliferative disorder(178;0.0821)	83			Pro/Ser/Thr-rich.		Q5SPY8|Q9BTD6|Q9BXT3|Q9NQS2|Q9Y434	Missense_Mutation	SNP	ENST00000371601.4	37	c.481C>T	CCDS7024.1	.	.	.	.	.	.	.	.	.	.	G	18.25	3.582319	0.65992	2.27E-4	0.0	ENSG00000107281	ENST00000371600;ENST00000371601	.	.	.	4.55	3.64	0.41730	.	0.382752	0.20080	U	0.099678	T	0.50429	0.1615	L	0.46157	1.445	0.09310	N	1	D;D;D;D	0.89917	0.99;0.974;1.0;0.974	P;P;D;P	0.64506	0.683;0.567;0.926;0.567	T	0.31503	-0.9941	9	0.72032	D	0.01	-20.1297	7.5591	0.27841	0.117:0.0:0.883:0.0	.	83;83;161;83	Q8WXX4;Q9NQX5;Q5SPY9;Q8NCE1	.;NPDC1_HUMAN;.;.	C	161;83	.	ENSP00000360659:R161C	R	-	1	0	NPDC1	139057212	0.082000	0.21442	0.004000	0.12327	0.173000	0.22820	2.783000	0.47766	2.079000	0.62486	0.561000	0.74099	CGC		0.657	NPDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055182.1	NM_015392		8	17	0	0	0	1	0	8	17					A	139937391	G	A	139937391	3	1	435	1	0	0	0	0	1	0	0	0	10573	1087	38	1	762	1	NPDC1	9	139937391	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	24190	139937391	1276040	4545	25470											
UAP1L1	91373	broad.mit.edu	37	chr9	139975224	139975224	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agccgacagggacagtccccGcaccgctcgccaggccctgc	7	3	12	19	4	0	0	0	0	0	0	2	2	1	1	6	2	2	2	6	2	0	0	rs546839127		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:139975224G>A	ENST00000409858.3	+	7	1294	c.1262G>A	c.(1261-1263)cGc>cAc	p.R421H	UAP1L1_ENST00000360271.3_Missense_Mutation_p.R298H	NM_207309.2	NP_997192.2	Q3KQV9	UAP1L_HUMAN	UDP-N-acetylglucosamine pyrophosphorylase 1 like 1	421							uridylyltransferase activity (GO:0070569)			kidney(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	8	all_cancers(76;0.0926)	Myeloproliferative disorder(178;0.0821)	STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;2.96e-05)|Epithelial(140;0.000486)		GACAGTCCCCGCACCGCTCGC	0.677													G|||	1	0.000199681	8e-04	0	5008	,	,		16299	0		0	False		,,,				2504	0					ENST00000409858.3																			0				kidney(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	8						c.(1261-1263)cGc>cAc		UDP-N-acteylglucosamine pyrophosphorylase 1-like 1							51	55	54					9																	139975224		2201	4300	6501	SO:0001583	missense	91373						nucleotidyltransferase activity	g.chr9:139975224G>A	AK022632	CCDS7028.2	9q34.3	2014-07-31	2014-07-31		ENSG00000197355	ENSG00000197355			28082	protein-coding gene	gene with protein product							Standard	NM_207309		Approved		uc010ncb.3	Q3KQV9	OTTHUMG00000020962	ENST00000409858.3:c.1262G>A	9.37:g.139975224G>A	ENSP00000386935:p.Arg421His					UAP1L1_ENST00000360271.3_Missense_Mutation_p.R298H	p.R421H	NM_207309.2	NP_997192.2	Q3KQV9	UAP1L_HUMAN	STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;2.96e-05)|Epithelial(140;0.000486)	7	1294	+	all_cancers(76;0.0926)	Myeloproliferative disorder(178;0.0821)	421					A2AMJ8|Q5SPZ2|Q69YQ3|Q6ZR38	Missense_Mutation	SNP	ENST00000409858.3	37	c.1262G>A	CCDS7028.2	.	.	.	.	.	.	.	.	.	.	G	13.72	2.321782	0.41096	.	.	ENSG00000197355	ENST00000409858;ENST00000360271	T;T	0.17370	2.28;2.28	4.09	3.18	0.36537	.	0.360556	0.30020	N	0.010613	T	0.13030	0.0316	N	0.19112	0.55	0.23483	N	0.997587	P;P	0.51791	0.73;0.948	B;B	0.44044	0.154;0.439	T	0.06789	-1.0807	10	0.51188	T	0.08	.	12.3806	0.55305	0.0:0.8045:0.1955:0.0	.	421;298	Q3KQV9;Q3KQV9-2	UAP1L_HUMAN;.	H	421;298	ENSP00000386935:R421H;ENSP00000353409:R298H	ENSP00000353409:R298H	R	+	2	0	UAP1L1	139095045	0.761000	0.28439	0.003000	0.11579	0.002000	0.02628	1.985000	0.40668	0.690000	0.31570	0.467000	0.42956	CGC		0.677	UAP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055216.2	XM_038063		12	26	0	0	0	1	0	12	26					A	139975224	G	A	139975224	3	1	435	1	0	0	0	0	1	0	0	0	16823	1087	38	1	1288	1	UAP1L1	9	139975224	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	37833	139975224	1238207	4546	25471											
GRIN1	2902	broad.mit.edu	37	chr9	140043502	140043502	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gacccagggaccaagaacgtGacggccctgctgatggaggc	10	4	15	12	2	0	3	0	2	0	1	0	6	0	5	3	4	2	1	3	4	2	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:140043502G>A	ENST00000371561.3	+	4	1709	c.612G>A	c.(610-612)gtG>gtA	p.V204V	GRIN1_ENST00000315048.3_Silent_p.V204V|GRIN1_ENST00000371550.4_Silent_p.V204V|GRIN1_ENST00000350902.5_Silent_p.V204V|GRIN1_ENST00000371546.4_Silent_p.V225V|GRIN1_ENST00000371559.4_Silent_p.V204V|GRIN1_ENST00000471122.1_3'UTR|GRIN1_ENST00000371560.3_Silent_p.V225V|GRIN1_ENST00000371553.3_Silent_p.V225V|GRIN1_ENST00000371555.4_Silent_p.V225V	NM_007327.3	NP_015566.1	Q05586	NMDZ1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 1	204					adult locomotory behavior (GO:0008344)|calcium ion homeostasis (GO:0055074)|calcium ion transmembrane transport (GO:0070588)|cation transport (GO:0006812)|cellular calcium ion homeostasis (GO:0006874)|cellular response to manganese ion (GO:0071287)|cerebral cortex development (GO:0021987)|conditioned taste aversion (GO:0001661)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|long-term memory (GO:0007616)|male mating behavior (GO:0060179)|negative regulation of neuron apoptotic process (GO:0043524)|olfactory learning (GO:0008355)|pons maturation (GO:0021586)|positive regulation of apoptotic process (GO:0043065)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prepulse inhibition (GO:0060134)|propylene metabolic process (GO:0018964)|protein tetramerization (GO:0051262)|regulation of axonogenesis (GO:0050770)|regulation of dendrite morphogenesis (GO:0048814)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of membrane potential (GO:0042391)|regulation of respiratory gaseous exchange (GO:0043576)|regulation of synapse assembly (GO:0051963)|respiratory gaseous exchange (GO:0007585)|response to amphetamine (GO:0001975)|response to calcium ion (GO:0051592)|response to ethanol (GO:0045471)|response to fungicide (GO:0060992)|response to morphine (GO:0043278)|rhythmic process (GO:0048511)|sensory perception of pain (GO:0019233)|social behavior (GO:0035176)|suckling behavior (GO:0001967)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|visual learning (GO:0008542)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|dendrite membrane (GO:0032590)|dendritic spine (GO:0043197)|endoplasmic reticulum (GO:0005783)|excitatory synapse (GO:0060076)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)|synaptic cleft (GO:0043083)|synaptic vesicle (GO:0008021)|terminal bouton (GO:0043195)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate binding (GO:0016595)|glycine binding (GO:0016594)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|neurotransmitter binding (GO:0042165)|voltage-gated cation channel activity (GO:0022843)			NS(1)|breast(1)|endometrium(1)|kidney(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;6.87e-05)|Epithelial(140;0.00095)	Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Gabapentin(DB00996)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Orphenadrine(DB01173)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	CCAAGAACGTGACGGCCCTGC	0.627																																					NSCLC(113;717 1653 2089 20474 37618)	ENST00000371561.3																			0				NS(1)|breast(1)|endometrium(1)|kidney(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						c.(610-612)gtG>gtA		glutamate receptor, ionotropic, N-methyl D-aspartate 1	L-Glutamic Acid(DB00142)|Orphenadrine(DB01173)						118	95	102					9																	140043502		2203	4300	6503	SO:0001819	synonymous_variant	2902				ionotropic glutamate receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|regulation of excitatory postsynaptic membrane potential|response to ethanol|visual learning	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane|synaptic vesicle|synaptosome	calcium ion binding|calmodulin binding|extracellular-glutamate-gated ion channel activity|glutamate binding|glycine binding	g.chr9:140043502G>A		CCDS7031.1, CCDS7032.1, CCDS43910.1, CCDS55354.1, CCDS55355.1	9q34.3	2013-01-11			ENSG00000176884	ENSG00000176884		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4584	protein-coding gene	gene with protein product		138249	"N-methyl-D-aspartate receptor subunit NR1"	NMDAR1		1350383	Standard	NM_000832		Approved	GluN1	uc004cln.3	Q05586	OTTHUMG00000020976	ENST00000371561.3:c.612G>A	9.37:g.140043502G>A						GRIN1_ENST00000315048.3_Silent_p.V204V|GRIN1_ENST00000371546.4_Silent_p.V225V|GRIN1_ENST00000371550.4_Silent_p.V204V|GRIN1_ENST00000350902.5_Silent_p.V204V|GRIN1_ENST00000371559.4_Silent_p.V204V|GRIN1_ENST00000471122.1_3'UTR|GRIN1_ENST00000371553.3_Silent_p.V225V|GRIN1_ENST00000371555.4_Silent_p.V225V|GRIN1_ENST00000371560.3_Silent_p.V225V	p.V204V	NM_007327.3	NP_015566.1	Q05586	NMDZ1_HUMAN	STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;6.87e-05)|Epithelial(140;0.00095)	4	1709	+	all_cancers(76;0.0926)		204					A6NLK7|A6NLR1|C9K0X1|P35437|Q12867|Q12868|Q5VSF3|Q5VSF4|Q5VSF5|Q5VSF6|Q5VSF7|Q5VSF8|Q9UPF8|Q9UPF9	Silent	SNP	ENST00000371561.3	37	c.612G>A	CCDS7031.1																																																																																				0.627	GRIN1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000055267.3	NM_007327		3	9	0	0	0	1	0	3	9					A	140043502	G	A	140043502	2	1	435	1	0	0	0	0	0	0	0	1	6778	1277	45	3		3	GRIN1	9	140043502	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	68278	140043502	1169929	4547	25472											
ANAPC2	29882	broad.mit.edu	37	chr9	140074793	140074793	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgctggccgcttctcatccTcctcccggatgttggcattg	3	13	10	15	2	1	0	1	0	1	0	5	1	4	1	4	3	1	4	4	3	0	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:140074793T>C	ENST00000323927.2	-	10	1734	c.1730A>G	c.(1729-1731)gAg>gGg	p.E577G		NM_013366.3	NP_037498.1	Q9UJX6	ANC2_HUMAN	anaphase promoting complex subunit 2	577					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of axon extension (GO:0045773)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic plasticity (GO:0031915)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)				breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	15	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.000858)		CTTCTCATCCTCCTCCCGGAT	0.682																																						ENST00000323927.2																			0				breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	15						c.(1729-1731)gAg>gGg		anaphase promoting complex subunit 2							51	50	51					9																	140074793		2203	4300	6503	SO:0001583	missense	29882				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|cyclin catabolic process|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of synapse maturation|positive regulation of synaptic plasticity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination|regulation of cyclin-dependent protein kinase activity	anaphase-promoting complex|cytosol|nucleoplasm	ubiquitin protein ligase binding|ubiquitin-protein ligase activity	g.chr9:140074793T>C	AB037827	CCDS7033.1	9q34.3	2011-06-15			ENSG00000176248	ENSG00000176248		"Anaphase promoting complex subunits"	19989	protein-coding gene	gene with protein product		606946				11739784	Standard	NM_013366		Approved	APC2, KIAA1406	uc004clr.1	Q9UJX6	OTTHUMG00000020983	ENST00000323927.2:c.1730A>G	9.37:g.140074793T>C	ENSP00000314004:p.Glu577Gly						p.E577G	NM_013366.3	NP_037498.1	Q9UJX6	ANC2_HUMAN	STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.000858)	10	1734	-	all_cancers(76;0.0926)		577					Q5VSG1|Q96DG5|Q96GG4|Q9P2E1	Missense_Mutation	SNP	ENST00000323927.2	37	c.1730A>G	CCDS7033.1	.	.	.	.	.	.	.	.	.	.	T	20.3	3.970838	0.74246	.	.	ENSG00000176248	ENST00000323927	T	0.74842	-0.88	4.79	3.56	0.40772	Cullin, N-terminal (1);Cullin homology (3);	0.000000	0.85682	D	0.000000	T	0.80204	0.4580	M	0.73962	2.25	0.80722	D	1	D;D	0.58620	0.983;0.979	P;P	0.58013	0.831;0.74	T	0.79750	-0.1672	10	0.44086	T	0.13	-25.6647	8.511	0.33217	0.1736:0.0:0.0:0.8264	.	577;574	Q9UJX6;Q9UJX6-2	ANC2_HUMAN;.	G	577	ENSP00000314004:E577G	ENSP00000314004:E577G	E	-	2	0	ANAPC2	139194614	1.000000	0.71417	1.000000	0.80357	0.795000	0.44927	4.322000	0.59215	1.785000	0.52413	0.379000	0.24179	GAG		0.682	ANAPC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055315.1	NM_013366		19	34	0	0	0	1	0	19	34					C	140074793	T	C	140074793	3	2	435	1	0	0	0	0	1	0	0	0	603	1551	54	4	754	4	ANAPC2	9	140074793	Missense_Mutation	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	31291	140074793	1138638	4548	25473											
ANAPC2	29882	broad.mit.edu	37	chr9	140082419	140082419	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agaactcaggggagatgttgGcctgcagatcgttctgcagc	9	9	14	9	1	2	3	1	0	1	3	3	4	2	3	1	3	4	4	1	3	1	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:140082419G>A	ENST00000323927.2	-	2	258	c.254C>T	c.(253-255)gCc>gTc	p.A85V	SSNA1_ENST00000322310.5_5'Flank	NM_013366.3	NP_037498.1	Q9UJX6	ANC2_HUMAN	anaphase promoting complex subunit 2	85					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of axon extension (GO:0045773)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic plasticity (GO:0031915)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)				breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	15	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.000858)		GGAGATGTTGGCCTGCAGATC	0.607																																						ENST00000323927.2																			0				breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	15						c.(253-255)gCc>gTc		anaphase promoting complex subunit 2							81	85	84					9																	140082419		2203	4300	6503	SO:0001583	missense	29882				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|cyclin catabolic process|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of synapse maturation|positive regulation of synaptic plasticity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination|regulation of cyclin-dependent protein kinase activity	anaphase-promoting complex|cytosol|nucleoplasm	ubiquitin protein ligase binding|ubiquitin-protein ligase activity	g.chr9:140082419G>A	AB037827	CCDS7033.1	9q34.3	2011-06-15			ENSG00000176248	ENSG00000176248		"Anaphase promoting complex subunits"	19989	protein-coding gene	gene with protein product		606946				11739784	Standard	NM_013366		Approved	APC2, KIAA1406	uc004clr.1	Q9UJX6	OTTHUMG00000020983	ENST00000323927.2:c.254C>T	9.37:g.140082419G>A	ENSP00000314004:p.Ala85Val						p.A85V	NM_013366.3	NP_037498.1	Q9UJX6	ANC2_HUMAN	STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.000858)	2	258	-	all_cancers(76;0.0926)		85					Q5VSG1|Q96DG5|Q96GG4|Q9P2E1	Missense_Mutation	SNP	ENST00000323927.2	37	c.254C>T	CCDS7033.1	.	.	.	.	.	.	.	.	.	.	G	11.25	1.583989	0.28268	.	.	ENSG00000176248	ENST00000323927	T	0.71934	-0.61	4.95	4.04	0.47022	.	0.324600	0.35805	N	0.002972	T	0.56470	0.1987	L	0.29908	0.895	0.27517	N	0.951505	B	0.23806	0.091	B	0.19148	0.024	T	0.47315	-0.9127	10	0.30854	T	0.27	-22.4135	11.6524	0.51297	0.0:0.3621:0.6379:0.0	.	85	Q9UJX6	ANC2_HUMAN	V	85	ENSP00000314004:A85V	ENSP00000314004:A85V	A	-	2	0	ANAPC2	139202240	0.993000	0.37304	1.000000	0.80357	0.981000	0.71138	3.281000	0.51685	1.041000	0.40125	0.561000	0.74099	GCC		0.607	ANAPC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055315.1	NM_013366		5	18	0	0	0	1	0	5	18					A	140082419	G	A	140082419	3	1	435	1	0	0	0	0	1	0	0	0	603	1203	42	3	2262	3	ANAPC2	9	140082419	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	7626	140082419	1131012	4549	25474											
NDOR1	27158	broad.mit.edu	37	chr9	140109367	140109367	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cgaactcctggcctgtctatCcctccatgagctggagcggg	6	9	12	14	2	1	1	0	1	1	0	4	3	4	2	4	3	3	1	4	3	2	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:140109367C>T	ENST00000344894.5	+	8	1045	c.962C>T	c.(961-963)tCc>tTc	p.S321F	NDOR1_ENST00000427047.2_Missense_Mutation_p.S287F|NDOR1_ENST00000458322.2_Missense_Mutation_p.S321F|NDOR1_ENST00000371521.4_Missense_Mutation_p.S321F	NM_001144028.1|NM_014434.2	NP_001137500.1|NP_055249.1			NADPH dependent diflavin oxidoreductase 1											breast(1)|endometrium(5)|large_intestine(1)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	15	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057)		GCCTGTCTATCCCTCCATGAG	0.632																																						ENST00000371521.4																			0				breast(1)|endometrium(5)|large_intestine(1)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	15						c.(961-963)tCc>tTc		NADPH dependent diflavin oxidoreductase 1							45	47	46					9																	140109367		2203	4299	6502	SO:0001583	missense	27158				cell death	cytosol|intermediate filament cytoskeleton|nucleus|perinuclear region of cytoplasm	flavin adenine dinucleotide binding|FMN binding|iron ion binding|NADP binding|oxidoreductase activity|protein binding	g.chr9:140109367C>T	BC015735	CCDS7036.1, CCDS48061.1, CCDS48062.1, CCDS48063.1	9q34.3	2008-02-05			ENSG00000188566	ENSG00000188566			29838	protein-coding gene	gene with protein product	"NADPH dependent FMN and FAD containing oxidoreductase"	606073				10625700, 12631275	Standard	XM_005266066		Approved	NR1, bA350O14.9	uc004clx.3	Q9UHB4	OTTHUMG00000020986	ENST00000344894.5:c.962C>T	9.37:g.140109367C>T	ENSP00000343344:p.Ser321Phe					NDOR1_ENST00000427047.2_Missense_Mutation_p.S287F|NDOR1_ENST00000344894.5_Missense_Mutation_p.S321F|NDOR1_ENST00000458322.2_Missense_Mutation_p.S321F	p.S321F	NM_001144026.1	NP_001137498.1	Q9UHB4	NDOR1_HUMAN	STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057)	8	1045	+	all_cancers(76;0.0926)		321			FAD-binding FR-type.			Missense_Mutation	SNP	ENST00000344894.5	37	c.962C>T	CCDS7036.1	.	.	.	.	.	.	.	.	.	.	C	17.15	3.316549	0.60524	.	.	ENSG00000188566	ENST00000458322;ENST00000427047;ENST00000371521;ENST00000344894	T;T;T;T	0.66460	-0.21;-0.21;-0.21;-0.21	4.84	4.84	0.62591	Riboflavin synthase-like beta-barrel (1);FAD-binding, type 1 (1);NADPH-cytochrome p450 reductase, FAD-binding, alpha-helical domain-3 (1);Ferredoxin reductase-type FAD-binding domain (1);	0.060700	0.64402	D	0.000004	D	0.82962	0.5151	M	0.83774	2.66	0.52099	D	0.999941	D;D;D;D	0.76494	0.999;0.994;0.999;0.995	D;D;D;D	0.75484	0.986;0.971;0.976;0.971	D	0.86003	0.1496	10	0.87932	D	0	-10.0409	16.847	0.85983	0.0:1.0:0.0:0.0	.	321;287;321;321	D3YTG6;D3YTH9;Q9UHB4-2;Q9UHB4	.;.;.;NDOR1_HUMAN	F	321;287;321;321	ENSP00000389905:S321F;ENSP00000394309:S287F;ENSP00000360576:S321F;ENSP00000343344:S321F	ENSP00000343344:S321F	S	+	2	0	NDOR1	139229188	1.000000	0.71417	0.082000	0.20525	0.400000	0.30750	7.170000	0.77587	2.400000	0.81607	0.561000	0.74099	TCC		0.632	NDOR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254704.1	NM_014434		23	35	0	0	0	1	0	23	35					T	140109367	C	T	140109367	3	4	435	1	0	0	0	0	1	0	0	0	10249	855	30	3	992	3	NDOR1	9	140109367	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	26948	140109367	1104064	4550	25475											
FAM166A	401565	broad.mit.edu	37	chr9	140139876	140139876	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cctggtgggcacggagggtgCggggtgtcgggcgtgaagcc	4	6	22	9	4	0	1	0	1	0	0	1	2	0	2	2	7	2	1	2	7	1	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:140139876C>T	ENST00000344774.4	-	3	459	c.405G>A	c.(403-405)ccG>ccA	p.P135P	FAM166A_ENST00000388932.2_Silent_p.P135P	NM_001001710.1	NP_001001710.1	Q6J272	F166A_HUMAN	family with sequence similarity 166, member A	135						nucleus (GO:0005634)				kidney(3)|lung(7)|ovary(2)|prostate(1)|urinary_tract(2)	15						ACGGAGGGTGCGGGGTGTCGG	0.647																																						ENST00000344774.4																			0				kidney(3)|lung(7)|ovary(2)|prostate(1)|urinary_tract(2)	15						c.(403-405)ccG>ccA		family with sequence similarity 166, member A							76	88	83					9																	140139876		2203	4300	6503	SO:0001819	synonymous_variant	401565							g.chr9:140139876C>T	BC132916	CCDS35186.1	9q34.3	2008-08-08			ENSG00000188163	ENSG00000188163			33818	protein-coding gene	gene with protein product							Standard	XR_245332		Approved		uc004cmi.1	Q6J272	OTTHUMG00000159545	ENST00000344774.4:c.405G>A	9.37:g.140139876C>T						FAM166A_ENST00000388932.2_Silent_p.P135P	p.P135P	NM_001001710.1	NP_001001710.1	Q6J272	F166A_HUMAN			3	459	-			135					A6NND9|Q8N830	Silent	SNP	ENST00000344774.4	37	c.405G>A	CCDS35186.1																																																																																				0.647	FAM166A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356125.1	NM_001001710		26	47	0	0	0	1	0	26	47					T	140139876	C	T	140139876	2	4	435	1	0	0	0	0	0	0	0	1	5481	755	27	1		1	FAM166A	9	140139876	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	30509	140139876	1073555	4551	25476											
COBRA1	25920	broad.mit.edu	37	chr9	140151431	140151431	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tacatcctggagaaggagagCgctctcttcagtacagagct	11	9	11	10	1	2	3	1	0	1	3	4	5	3	3	1	2	4	3	1	2	3	3	rs575510067		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:140151431C>T	ENST00000343053.4	+	4	859	c.522C>T	c.(520-522)agC>agT	p.S174S		NM_015456.3	NP_056271.2	Q8WX92	NELFB_HUMAN	negative elongation factor complex member B	174					gene expression (GO:0010467)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of viral transcription (GO:0050434)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	cytoplasm (GO:0005737)|NELF complex (GO:0032021)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)											AGAAGGAGAGCGCTCTCTTCA	0.617																																						ENST00000343053.4																			0											c.(520-522)agC>agT		negative elongation factor complex member B							96	86	89					9																	140151431		2203	4300	6503	SO:0001819	synonymous_variant	25920							g.chr9:140151431C>T	AF464935	CCDS7040.1	9q34	2013-01-31	2013-01-31	2013-01-31	ENSG00000188986	ENSG00000188986			24324	protein-coding gene	gene with protein product		611180	"cofactor of BRCA1"	COBRA1		11230166, 10574461, 17910036, 17659869	Standard	NM_015456		Approved	KIAA1182, NELF-B	uc004cmm.4	Q8WX92	OTTHUMG00000131778	ENST00000343053.4:c.522C>T	9.37:g.140151431C>T							p.S174S	NM_015456.3	NP_056271.2					4	859	+								A2BFA3|Q96EW5|Q9H9R4|Q9ULN8|Q9Y3W0	Silent	SNP	ENST00000343053.4	37	c.522C>T	CCDS7040.1																																																																																				0.617	NELFB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254710.1	NM_015456		29	38	0	0	0	1	0	29	38					T	140151431	C	T	140151431	2	4	435	1	0	0	0	0	0	0	0	1	3655	767	27	1		1	COBRA1	9	140151431	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	11555	140151431	1062000	4552	25477											
C9orf167	54863	broad.mit.edu	37	chr9	140173475	140173475	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcgcgcaagtatcggccgCgcgtggagcacaggagccgc	7	4	15	15	7	0	0	0	0	0	0	2	2	0	2	3	3	2	3	3	3	2	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:140173475C>T	ENST00000357503.2	+	2	530	c.334C>T	c.(334-336)Cgc>Tgc	p.R112C		NM_017723.2	NP_060193.2	Q9NXH8	TOR4A_HUMAN	torsin family 4, member A	112					chaperone mediated protein folding requiring cofactor (GO:0051085)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)										GTATCGGCCGCGCGTGGAGCA	0.662																																						ENST00000357503.2																			0											c.(334-336)Cgc>Tgc		torsin family 4, member A							13	12	12					9																	140173475		2196	4294	6490	SO:0001583	missense	54863				chaperone mediated protein folding requiring cofactor	integral to membrane	ATP binding|nucleoside-triphosphatase activity	g.chr9:140173475C>T	AK023361	CCDS7041.1	9q34.3	2012-04-03	2012-04-03	2012-04-03	ENSG00000198113	ENSG00000198113			25981	protein-coding gene	gene with protein product			"chromosome 9 open reading frame 167"	C9orf167			Standard	NM_017723		Approved	FLJ20245	uc004cmn.3	Q9NXH8	OTTHUMG00000131779	ENST00000357503.2:c.334C>T	9.37:g.140173475C>T	ENSP00000350102:p.Arg112Cys						p.R112C	NM_017723.2	NP_060193.2	Q9NXH8	CI167_HUMAN			2	530	+			112					A2BFA4	Missense_Mutation	SNP	ENST00000357503.2	37	c.334C>T	CCDS7041.1	.	.	.	.	.	.	.	.	.	.	C	14.71	2.615651	0.46631	.	.	ENSG00000198113	ENST00000357503	T	0.58940	0.3	3.21	3.21	0.36854	.	0.344419	0.23454	N	0.048008	T	0.47691	0.1459	L	0.29908	0.895	0.29010	N	0.886954	D	0.69078	0.997	P	0.47044	0.535	T	0.47407	-0.9120	10	0.49607	T	0.09	-4.5614	10.1651	0.42875	0.0:1.0:0.0:0.0	.	112	Q9NXH8	CI167_HUMAN	C	112	ENSP00000350102:R112C	ENSP00000350102:R112C	R	+	1	0	C9orf167	139293296	0.025000	0.19082	0.695000	0.30226	0.964000	0.63967	0.384000	0.20668	2.097000	0.63578	0.561000	0.74099	CGC		0.662	TOR4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254711.1	NM_017723		3	7	0	0	0	1	0	3	7					T	140173475	C	T	140173475	3	4	435	1	0	0	0	0	1	0	0	0	2468	768	27	1	336	1	C9orf167	9	140173475	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	22044	140173475	1039956	4553	25478											
PNPLA7	375775	broad.mit.edu	37	chr9	140361841	140361841	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gagtacagggcacccacgaaGgccccgatggacgtgcctcc	9	4	13	15	3	0	0	0	0	0	0	1	4	1	1	5	3	2	2	5	3	2	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:140361841G>T	ENST00000277531.4	-	25	3078	c.2892C>A	c.(2890-2892)gcC>gcA	p.A964A	PNPLA7_ENST00000492278.1_5'UTR|PNPLA7_ENST00000371457.1_Silent_p.A570A|PNPLA7_ENST00000406427.1_Silent_p.A989A	NM_152286.3	NP_689499.3	Q6ZV29	PLPL7_HUMAN	patatin-like phospholipase domain containing 7	964	Patatin.				lipid metabolic process (GO:0006629)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	lysophospholipase activity (GO:0004622)			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_cancers(76;0.126)			OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839)		CACCCACGAAGGCCCCGATGG	0.657																																						ENST00000406427.1																			0				breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						c.(2965-2967)gcC>gcA		patatin-like phospholipase domain containing 7							108	85	93					9																	140361841		2203	4300	6503	SO:0001819	synonymous_variant	375775				lipid metabolic process	endoplasmic reticulum|integral to membrane|lysosomal membrane|microsome|mitochondrial membrane|nuclear membrane	hydrolase activity	g.chr9:140361841G>T	AK126267	CCDS7045.1, CCDS48070.1	9q34.3	2009-01-12	2006-06-12	2006-06-12	ENSG00000130653	ENSG00000130653		"Patatin-like phospholipase domain containing"	24768	protein-coding gene	gene with protein product		612122	"chromosome 9 open reading frame 111"	C9orf111		16799181, 12640454, 19029121	Standard	XM_005266082		Approved	FLJ43070, FLJ31318, FLJ44279, RP11-48C7.2, NTEL1, NTE-R1	uc010ncj.1	Q6ZV29	OTTHUMG00000020990	ENST00000277531.4:c.2892C>A	9.37:g.140361841G>T						PNPLA7_ENST00000277531.4_Silent_p.A964A|PNPLA7_ENST00000492278.1_5'UTR|PNPLA7_ENST00000371457.1_Silent_p.A570A	p.A989A	NM_001098537.1	NP_001092007.1	Q6ZV29	PLPL7_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839)	26	3303	-	all_cancers(76;0.126)		964			Patatin.		B5MDD3|Q5T364|Q658X0|Q658Y3|Q6ZTS1|Q86YU8|Q8TAY5|Q96N75|Q9H7N5	Silent	SNP	ENST00000277531.4	37	c.2967C>A	CCDS7045.1																																																																																				0.657	PNPLA7-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254787.1	NM_152286		6	27	1	0	0.00116845	1	0.0011864	6	27					T	140361841	G	T	140361841	2	4	435	1	0	0	0	0	0	0	0	1	12170	987	35	5		5	PNPLA7	9	140361841	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	188366	140361841	851590	4554	25479											
PNPLA7	375775	broad.mit.edu	37	chr9	140391713	140391713	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atccttccggatcacagagcGcagccggccgctgagcatga	9	6	12	14	4	1	3	1	2	0	1	3	4	3	4	4	2	3	3	4	2	0	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:140391713G>A	ENST00000277531.4	-	17	2050	c.1864C>T	c.(1864-1866)Cgc>Tgc	p.R622C	PNPLA7_ENST00000371457.1_Missense_Mutation_p.R228C|PNPLA7_ENST00000406427.1_Missense_Mutation_p.R647C	NM_152286.3	NP_689499.3	Q6ZV29	PLPL7_HUMAN	patatin-like phospholipase domain containing 7	622					lipid metabolic process (GO:0006629)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	lysophospholipase activity (GO:0004622)			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_cancers(76;0.126)			OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839)		ATCACAGAGCGCAGCCGGCCG	0.682																																						ENST00000406427.1																			0				breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						c.(1939-1941)Cgc>Tgc		patatin-like phospholipase domain containing 7							31	30	31					9																	140391713		2196	4290	6486	SO:0001583	missense	375775				lipid metabolic process	endoplasmic reticulum|integral to membrane|lysosomal membrane|microsome|mitochondrial membrane|nuclear membrane	hydrolase activity	g.chr9:140391713G>A	AK126267	CCDS7045.1, CCDS48070.1	9q34.3	2009-01-12	2006-06-12	2006-06-12	ENSG00000130653	ENSG00000130653		"Patatin-like phospholipase domain containing"	24768	protein-coding gene	gene with protein product		612122	"chromosome 9 open reading frame 111"	C9orf111		16799181, 12640454, 19029121	Standard	XM_005266082		Approved	FLJ43070, FLJ31318, FLJ44279, RP11-48C7.2, NTEL1, NTE-R1	uc010ncj.1	Q6ZV29	OTTHUMG00000020990	ENST00000277531.4:c.1864C>T	9.37:g.140391713G>A	ENSP00000277531:p.Arg622Cys					PNPLA7_ENST00000277531.4_Missense_Mutation_p.R622C|PNPLA7_ENST00000371457.1_Missense_Mutation_p.R228C	p.R647C	NM_001098537.1	NP_001092007.1	Q6ZV29	PLPL7_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839)	18	2275	-	all_cancers(76;0.126)		622					B5MDD3|Q5T364|Q658X0|Q658Y3|Q6ZTS1|Q86YU8|Q8TAY5|Q96N75|Q9H7N5	Missense_Mutation	SNP	ENST00000277531.4	37	c.1939C>T	CCDS7045.1	.	.	.	.	.	.	.	.	.	.	G	18.95	3.731111	0.69189	.	.	ENSG00000130653	ENST00000371457;ENST00000277531;ENST00000406427;ENST00000371451;ENST00000434090	D;D;D;D	0.93712	-3.27;-3.27;-3.27;-3.27	4.66	4.66	0.58398	Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);Cyclic nucleotide-binding domain (3);	0.000000	0.85682	D	0.000000	D	0.97542	0.9195	M	0.93678	3.445	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	D	0.98768	1.0727	10	0.87932	D	0	-25.4943	16.8772	0.86055	0.0:0.0:1.0:0.0	.	647;622	Q6ZV29-5;Q6ZV29	.;PLPL7_HUMAN	C	228;622;647;622;613	ENSP00000360512:R228C;ENSP00000277531:R622C;ENSP00000384610:R647C;ENSP00000400582:R613C	ENSP00000277531:R622C	R	-	1	0	PNPLA7	139511534	1.000000	0.71417	0.999000	0.59377	0.099000	0.18886	9.384000	0.97219	2.308000	0.77769	0.561000	0.74099	CGC		0.682	PNPLA7-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254787.1	NM_152286		3	8	0	0	0	1	0	3	8					A	140391713	G	A	140391713	3	1	435	1	0	0	0	0	1	0	0	0	12170	1087	38	1	2161	1	PNPLA7	9	140391713	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	29872	140391713	821718	4555	25480											
MRPL41	64975	broad.mit.edu	37	chr9	140446702	140446702	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tcgtgcagatcaaggagatgGtcccggagttcgtcgtcccg	7	9	14	11	5	1	2	1	0	0	2	6	4	3	3	2	3	1	2	2	3	1	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:140446702G>A	ENST00000371443.5	+	2	957	c.169G>A	c.(169-171)Gtc>Atc	p.V57I	PNPLA7_ENST00000406427.1_5'Flank|PNPLA7_ENST00000277531.4_5'Flank|DPH7_ENST00000479650.1_5'Flank	NM_032477.2	NP_115866.1	Q8IXM3	RM41_HUMAN	mitochondrial ribosomal protein L41	57					apoptotic process (GO:0006915)|cell cycle (GO:0007049)|translation (GO:0006412)	mitochondrial large ribosomal subunit (GO:0005762)|mitochondrion (GO:0005739)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			breast(1)|lung(1)	2	all_cancers(76;0.106)			OV - Ovarian serous cystadenocarcinoma(145;0.000415)|Epithelial(140;0.00106)		CAAGGAGATGGTCCCGGAGTT	0.687																																						ENST00000371443.5																			0				breast(1)|lung(1)	2						c.(169-171)Gtc>Atc		mitochondrial ribosomal protein L41							66	55	58					9																	140446702		2202	4300	6502	SO:0001583	missense	64975				apoptosis|cell cycle|translation	mitochondrial large ribosomal subunit	structural constituent of ribosome	g.chr9:140446702G>A	AB051625	CCDS7046.1	9q34.3	2012-09-13			ENSG00000182154	ENSG00000182154		"Mitochondrial ribosomal proteins / large subunits"	14492	protein-coding gene	gene with protein product		611846				11543634	Standard	NM_032477		Approved	MRP-L27, RPML27, BMRP, PIG3, MRPL27	uc004cnh.4	Q8IXM3	OTTHUMG00000020987	ENST00000371443.5:c.169G>A	9.37:g.140446702G>A	ENSP00000360498:p.Val57Ile						p.V57I	NM_032477.2	NP_115866.1	Q8IXM3	RM41_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;0.000415)|Epithelial(140;0.00106)	2	957	+	all_cancers(76;0.106)		57					Q96Q49	Missense_Mutation	SNP	ENST00000371443.5	37	c.169G>A	CCDS7046.1	.	.	.	.	.	.	.	.	.	.	G	13.45	2.240442	0.39598	.	.	ENSG00000182154	ENST00000371443	.	.	.	5.14	5.14	0.70334	.	0.129608	0.51477	D	0.000089	T	0.37100	0.0991	N	0.10874	0.06	0.52099	D	0.999948	B	0.20550	0.046	B	0.23574	0.047	T	0.31888	-0.9927	9	0.02654	T	1	.	17.6212	0.88082	0.0:0.0:1.0:0.0	.	57	Q8IXM3	RM41_HUMAN	I	57	.	ENSP00000360498:V57I	V	+	1	0	MRPL41	139566523	1.000000	0.71417	0.857000	0.33713	0.863000	0.49368	2.914000	0.48797	2.414000	0.81942	0.485000	0.47835	GTC		0.687	MRPL41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055327.1	NM_032477		12	21	0	0	0	1	0	12	21					A	140446702	G	A	140446702	3	1	435	1	0	0	0	0	1	0	0	0	9805	1261	44	3	171	3	MRPL41	9	140446702	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	54989	140446702	766729	4556	25481											
EHMT1	79813	broad.mit.edu	37	chr9	140707502	140707502	+	Frame_Shift_Del	DEL	A	A	-																															tgtcaccttaaagaacaaggAaggagagacgcccctgcagt																										TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:140707502delA	ENST00000460843.1	+	20	2939	c.2912delA	c.(2911-2913)gaafs	p.E971fs		NM_024757.4	NP_079033.4	Q9H9B1	EHMT1_HUMAN	euchromatic histone-lysine N-methyltransferase 1	971					chromatin modification (GO:0016568)|DNA methylation (GO:0006306)|embryo development (GO:0009790)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-lysine dimethylation (GO:0018027)|peptidyl-lysine monomethylation (GO:0018026)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	histone methyltransferase activity (H3-K27 specific) (GO:0046976)|histone methyltransferase activity (H3-K9 specific) (GO:0046974)|histone-lysine N-methyltransferase activity (GO:0018024)|methyltransferase activity (GO:0008168)|p53 binding (GO:0002039)|protein-lysine N-methyltransferase activity (GO:0016279)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_cancers(76;0.164)			OV - Ovarian serous cystadenocarcinoma(145;0.000183)|Epithelial(140;0.000728)		AAGAACAAGGAAGGAGAGACG	0.512																																						ENST00000460843.1																			0				breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41						c.(2911-2913)gafs		euchromatic histone-lysine N-methyltransferase 1							76	88	84					9																	140707502		2203	4300	6503	SO:0001589	frameshift_variant	79813				DNA methylation|embryo development|peptidyl-lysine dimethylation|peptidyl-lysine monomethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding	g.chr9:140707502delA	AY083210	CCDS7050.1, CCDS7050.2, CCDS56595.1	9q34.3	2013-09-20			ENSG00000181090	ENSG00000181090	2.1.1.43	"Chromatin-modifying enzymes / K-methyltransferases", "Ankyrin repeat domain containing"	24650	protein-coding gene	gene with protein product		607001	"euchromatic histone methyltransferase 1"			11347906, 12004135	Standard	NM_024757		Approved	Eu-HMTase1, FLJ12879, KIAA1876, bA188C12.1, KMT1D	uc011mfc.2	Q9H9B1	OTTHUMG00000020995	ENST00000460843.1:c.2912delA	9.37:g.140707502delA	ENSP00000417980:p.Glu971fs						p.E971fs	NM_024757.4	NP_079033.4	Q9H9B1	EHMT1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;0.000183)|Epithelial(140;0.000728)	20	2939	+	all_cancers(76;0.164)		971					B1AQ58|B1AQ59|Q86X08|Q8TCN7|Q96F53|Q96JF1|Q96KH4	Frame_Shift_Del	DEL	ENST00000460843.1	37	c.2912delA	CCDS7050.2																																																																																				0.512	EHMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055371.2	NM_024757		8	130						8	130	---	---	---	---	-	140707502	A	-	140707502	7	5	435	1	0	1	0	1	0	0	0	0	4983	246	9	0	3039	0	EHMT1	9	140707502	Frame_Shift_Del	DEL	A	TCGA-XK-AAIW-01A-11D-A41K-08	260800	140707502	505929	4557	25482											
CACNA1B	774	broad.mit.edu	37	chr9	140941391	140941391	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccactacatcgtgaccatgaGgtacttcgaggtggtcattc	9	11	10	11	2	1	2	1	2	0	0	4	3	1	2	2	3	2	1	2	3	2	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:140941391G>A	ENST00000371372.1	+	22	3594	c.3449G>A	c.(3448-3450)aGg>aAg	p.R1150K	CACNA1B_ENST00000545473.1_Missense_Mutation_p.R176K|CACNA1B_ENST00000371357.1_Missense_Mutation_p.R1151K|CACNA1B_ENST00000277551.2_Missense_Mutation_p.R1150K|CACNA1B_ENST00000371355.4_Missense_Mutation_p.R1151K|CACNA1B_ENST00000277549.5_Missense_Mutation_p.R342K|CACNA1B_ENST00000371363.1_Missense_Mutation_p.R1150K	NM_000718.3|NM_001243812.1	NP_000709.1|NP_001230741.1	Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	1150					calcium ion import (GO:0070509)|locomotory behavior (GO:0007626)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|neurotransmitter secretion (GO:0007269)|regulation of blood pressure (GO:0008217)|regulation of calcium ion transport (GO:0051924)|regulation of heart contraction (GO:0008016)|response to pain (GO:0048265)|synaptic transmission (GO:0007268)|transport (GO:0006810)	dendrite (GO:0030425)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|protein C-terminus binding (GO:0008022)|voltage-gated calcium channel activity (GO:0005245)			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)|Levetiracetam(DB01202)|Spironolactone(DB00421)|Verapamil(DB00661)	GTGACCATGAGGTACTTCGAG	0.642																																						ENST00000277549.5																			0				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80						c.(1024-1026)aGg>aAg		calcium channel, voltage-dependent, N type, alpha 1B subunit	Amlodipine(DB00381)|Gabapentin(DB00996)						52	56	54					9																	140941391		2157	4250	6407	SO:0001583	missense	774				membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity	g.chr9:140941391G>A	AB209467	CCDS59522.1, CCDS59523.1	9q34	2013-01-10	2007-02-16		ENSG00000148408	ENSG00000148408		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels", "EF-hand domain containing"	1389	protein-coding gene	gene with protein product		601012		CACNL1A5		8825650, 16382099	Standard	NM_000718		Approved	Cav2.2, CACNN	uc004cog.3	Q00975	OTTHUMG00000021002	ENST00000371372.1:c.3449G>A	9.37:g.140941391G>A	ENSP00000360423:p.Arg1150Lys					CACNA1B_ENST00000545473.1_Missense_Mutation_p.R176K|CACNA1B_ENST00000371355.4_Missense_Mutation_p.R1151K|CACNA1B_ENST00000371357.1_Missense_Mutation_p.R1151K|CACNA1B_ENST00000371363.1_Missense_Mutation_p.R1150K|CACNA1B_ENST00000371372.1_Missense_Mutation_p.R1150K|CACNA1B_ENST00000277551.2_Missense_Mutation_p.R1150K	p.R342K			Q00975	CAC1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	22	3594	+	all_cancers(76;0.166)		1150					B1AQK5	Missense_Mutation	SNP	ENST00000371372.1	37	c.1025G>A	CCDS59522.1	.	.	.	.	.	.	.	.	.	.	G	33	5.269665	0.95429	.	.	ENSG00000148408	ENST00000371372;ENST00000277551;ENST00000277549;ENST00000371363;ENST00000371357;ENST00000371355;ENST00000545473	T;T;T;T;T;T;T	0.39592	1.07;1.07;1.07;1.07;1.07;1.07;1.07	5.18	5.18	0.71444	.	0.000000	0.85682	D	0.000000	T	0.29458	0.0734	N	0.11000	0.08	0.80722	D	1	B;B;B	0.15719	0.001;0.014;0.014	B;B;B	0.22386	0.002;0.039;0.039	T	0.08889	-1.0700	10	0.51188	T	0.08	.	17.4399	0.87562	0.0:0.0:1.0:0.0	.	1150;1151;1150	B1AQK4;B1AQK7;B1AQK6	.;.;.	K	1150;1150;342;1150;1151;1151;176	ENSP00000360423:R1150K;ENSP00000277551:R1150K;ENSP00000277549:R342K;ENSP00000360414:R1150K;ENSP00000360408:R1151K;ENSP00000360406:R1151K;ENSP00000441232:R176K	ENSP00000277549:R342K	R	+	2	0	CACNA1B	140061212	1.000000	0.71417	1.000000	0.80357	0.910000	0.53928	5.608000	0.67654	2.416000	0.81992	0.561000	0.74099	AGG		0.642	CACNA1B-001	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055380.1	NM_000718		9	16	0	0	0	1	0	9	16					A	140941391	G	A	140941391	3	1	435	1	0	0	0	0	1	0	0	0	2539	1000	35	3	3535	3	CACNA1B	9	140941391	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	233889	140941391	272040	4558	25483											
TUBB8	347688	broad.mit.edu	37	chr10	94613	94613	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggccccgagcgcacagagtcCatggtgcccggctccagatc	7	5	13	16	3	0	2	0	0	0	2	3	3	2	2	5	3	2	2	5	3	0	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:94613C>T	ENST00000309812.4	-	3	281	c.219G>A	c.(217-219)atG>atA	p.M73I	TUBB8_ENST00000413237.3_5'UTR|TUBB8_ENST00000332708.5_Nonsense_Mutation_p.W37*|TUBB8_ENST00000447903.2_Start_Codon_SNP_p.M1I	NM_177987.2	NP_817124.1	Q3ZCM7	TBB8_HUMAN	tubulin, beta 8 class VIII	73					microtubule-based process (GO:0007017)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(12)|ovary(2)|prostate(3)|skin(3)|stomach(1)	32		all_cancers(4;0.00131)|all_lung(4;0.000777)|Lung NSC(4;0.0043)|all_epithelial(10;0.0154)|Colorectal(49;0.235)		Epithelial(11;0.00341)|all cancers(11;0.00922)|OV - Ovarian serous cystadenocarcinoma(14;0.0508)|Lung(33;0.132)		GCACAGAGTCCATGGTGCCCG	0.697																																					Pancreas(192;2041 3010 9013 18103)	ENST00000332708.5																			0				NS(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(12)|ovary(2)|prostate(3)|skin(3)|stomach(1)	32						c.(109-111)tGg>tAg		tubulin, beta 8 class VIII							34	43	40					10																	94613		2201	4293	6494	SO:0001583	missense	347688				microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity	g.chr10:94613C>T	AF355127	CCDS7051.1	10p15.3	2014-05-06			ENSG00000173876			"Tubulins"	20773	protein-coding gene	gene with protein product	"class VIII beta-tubulin"						Standard	NM_177987		Approved	bA631M21.2	uc001ifi.2	Q3ZCM7	OTTHUMG00000174803	ENST00000309812.4:c.219G>A	10.37:g.94613C>T	ENSP00000311042:p.Met73Ile					TUBB8_ENST00000309812.4_Missense_Mutation_p.M73I|TUBB8_ENST00000413237.3_5'UTR|TUBB8_ENST00000447903.2_Start_Codon_SNP_p.M1I	p.W37*			Q3ZCM7	TBB8_HUMAN		Epithelial(11;0.00341)|all cancers(11;0.00922)|OV - Ovarian serous cystadenocarcinoma(14;0.0508)|Lung(33;0.132)	2	140	-		all_cancers(4;0.00131)|all_lung(4;0.000777)|Lung NSC(4;0.0043)|all_epithelial(10;0.0154)|Colorectal(49;0.235)	351					Q5SQX9|Q8WZ78	Nonsense_Mutation	SNP	ENST00000309812.4	37	c.110G>A	CCDS7051.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.79|14.79	2.640049|2.640049	0.47153|0.47153	.|.	.|.	ENSG00000173876|ENSG00000173876	ENST00000447903;ENST00000328974;ENST00000309812|ENST00000332708	T;T|.	0.64085|.	-0.07;-0.08|.	0.109|0.109	0.109|0.109	0.14578|0.14578	Tubulin/FtsZ, GTPase domain (4);|.	0.066913|.	0.53938|.	U|.	0.000042|.	T|.	0.59459|.	0.2195|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	B|.	0.14438|.	0.01|.	B|.	0.20577|.	0.03|.	T|.	0.59193|.	-0.7500|.	9|.	0.87932|0.87932	D|D	0|0	.|.	5.9913|5.9913	0.19465|0.19465	0.0:0.9994:0.0:6.0E-4|0.0:0.9994:0.0:6.0E-4	.|.	73|.	Q3ZCM7|.	TBB8_HUMAN|.	I|X	1;73;73|37	ENSP00000403895:M1I;ENSP00000311042:M73I|.	ENSP00000311042:M73I|ENSP00000371071:W37X	M|W	-|-	3|2	0|0	RP11-631M21.2|RP11-631M21.2	84613|84613	1.000000|1.000000	0.71417|0.71417	0.037000|0.037000	0.18230|0.18230	0.037000|0.037000	0.13140|0.13140	3.701000|3.701000	0.54793|0.54793	0.181000|0.181000	0.19994|0.19994	0.184000|0.184000	0.17185|0.17185	ATG|TGG		0.697	TUBB8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467795.1	NM_177987		15	34	0	0	0	1	0	15	34					T	94613	C	T	94613	3	4	435	1	0	0	0	0	1	0	0	0	16758	594	21	3	1123	3	TUBB8	10	94613	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08		94613	135440134	4559	25484											
IDI2	91734	broad.mit.edu	37	chr10	1065665	1065665	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggatccgggttcagagtgAcgtttttcctcacaagcaga	9	11	12	9	2	2	3	2	1	0	2	4	4	4	4	2	2	1	3	2	2	1	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:1065665A>G	ENST00000277517.1	-	5	540	c.476T>C	c.(475-477)gTc>gCc	p.V159A	GTPBP4_ENST00000360803.4_3'UTR|IDI2-AS1_ENST00000420381.1_RNA|IDI2-AS1_ENST00000437374.1_RNA|IDI2-AS1_ENST00000428780.2_RNA|IDI2-AS1_ENST00000536039.1_RNA|IDI2-AS1_ENST00000434470.1_RNA	NM_033261.2	NP_150286.1	Q9BXS1	IDI2_HUMAN	isopentenyl-diphosphate delta isomerase 2	159	Nudix hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00794}.				cholesterol biosynthetic process (GO:0006695)|dimethylallyl diphosphate biosynthetic process (GO:0050992)|isopentenyl diphosphate metabolic process (GO:0046490)|isoprenoid biosynthetic process (GO:0008299)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|peroxisome (GO:0005777)	hydrolase activity (GO:0016787)|isopentenyl-diphosphate delta-isomerase activity (GO:0004452)|metal ion binding (GO:0046872)			kidney(1)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	9		Colorectal(49;0.235)	OV - Ovarian serous cystadenocarcinoma(33;0.143)	Epithelial(11;0.067)|OV - Ovarian serous cystadenocarcinoma(14;0.169)|all cancers(11;0.192)		GTTCAGAGTGACGTTTTTCCT	0.493																																						ENST00000277517.1																			0				kidney(1)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	9						c.(475-477)gTc>gCc		isopentenyl-diphosphate delta isomerase 2							141	122	129					10																	1065665		2203	4300	6503	SO:0001583	missense	91734				carotenoid biosynthetic process|cholesterol biosynthetic process	cytosol|peroxisome	hydrolase activity|isopentenyl-diphosphate delta-isomerase activity|metal ion binding	g.chr10:1065665A>G	AF271725	CCDS7055.1	10p15.3	2003-11-19			ENSG00000148377	ENSG00000148377			23487	protein-coding gene	gene with protein product		615389				12477932	Standard	NM_033261		Approved	IPPI2	uc001ifv.1	Q9BXS1	OTTHUMG00000017537	ENST00000277517.1:c.476T>C	10.37:g.1065665A>G	ENSP00000277517:p.Val159Ala					GTPBP4_ENST00000360803.4_3'UTR	p.V159A	NM_033261.2	NP_150286.1	Q9BXS1	IDI2_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;0.143)	Epithelial(11;0.067)|OV - Ovarian serous cystadenocarcinoma(14;0.169)|all cancers(11;0.192)	5	540	-		Colorectal(49;0.235)	159			Nudix hydrolase.			Missense_Mutation	SNP	ENST00000277517.1	37	c.476T>C	CCDS7055.1	.	.	.	.	.	.	.	.	.	.	A	14.51	2.556648	0.45487	.	.	ENSG00000148377	ENST00000277517	T	0.07800	3.16	3.55	3.55	0.40652	NUDIX hydrolase domain (3);NUDIX hydrolase domain-like (1);	0.205027	0.40385	U	0.001114	T	0.19967	0.0480	L	0.56769	1.78	0.23899	N	0.996527	P	0.51791	0.948	P	0.61132	0.884	T	0.01130	-1.1442	10	0.66056	D	0.02	-9.3405	11.0697	0.47995	1.0:0.0:0.0:0.0	.	159	Q9BXS1	IDI2_HUMAN	A	159	ENSP00000277517:V159A	ENSP00000277517:V159A	V	-	2	0	IDI2	1055665	0.571000	0.26659	0.001000	0.08648	0.015000	0.08874	5.914000	0.69964	1.611000	0.50210	0.155000	0.16302	GTC		0.493	IDI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046411.1	NM_033261		10	61	0	0	0	1	0	10	61					G	1065665	A	G	1065665	3	3	435	1	0	0	0	0	1	0	0	0	7500	275	10	4	211	4	IDI2	10	1065665	Missense_Mutation	SNP	A	TCGA-XK-AAIW-01A-11D-A41K-08	971052	1065665	134469082	4560	25485											
IDI2	91734	broad.mit.edu	37	chr10	1068717	1068717	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaggctcggtgcagcagcccTgcaaaggtaagtgccatttg	10	8	13	10	1	0	0	0	0	0	0	1	0	0	0	2	3	5	5	2	3	3	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:1068717T>C	ENST00000277517.1	-	3	207		c.e3-2		IDI2-AS1_ENST00000420381.1_RNA|IDI2-AS1_ENST00000437374.1_RNA|IDI2-AS1_ENST00000428780.2_RNA|IDI2-AS1_ENST00000536039.1_RNA|IDI2-AS1_ENST00000434470.1_RNA	NM_033261.2	NP_150286.1	Q9BXS1	IDI2_HUMAN	isopentenyl-diphosphate delta isomerase 2						cholesterol biosynthetic process (GO:0006695)|dimethylallyl diphosphate biosynthetic process (GO:0050992)|isopentenyl diphosphate metabolic process (GO:0046490)|isoprenoid biosynthetic process (GO:0008299)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|peroxisome (GO:0005777)	hydrolase activity (GO:0016787)|isopentenyl-diphosphate delta-isomerase activity (GO:0004452)|metal ion binding (GO:0046872)			kidney(1)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	9		Colorectal(49;0.235)	OV - Ovarian serous cystadenocarcinoma(33;0.143)	Epithelial(11;0.067)|OV - Ovarian serous cystadenocarcinoma(14;0.169)|all cancers(11;0.192)		GCAGCAGCCCTGCAAAGGTAA	0.493																																						ENST00000277517.1																			0				kidney(1)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	9						c.e3-2		isopentenyl-diphosphate delta isomerase 2							99	80	87					10																	1068717		2203	4300	6503	SO:0001630	splice_region_variant	91734				carotenoid biosynthetic process|cholesterol biosynthetic process	cytosol|peroxisome	hydrolase activity|isopentenyl-diphosphate delta-isomerase activity|metal ion binding	g.chr10:1068717T>C	AF271725	CCDS7055.1	10p15.3	2003-11-19			ENSG00000148377	ENSG00000148377			23487	protein-coding gene	gene with protein product		615389				12477932	Standard	NM_033261		Approved	IPPI2	uc001ifv.1	Q9BXS1	OTTHUMG00000017537	ENST00000277517.1:c.143-2A>G	10.37:g.1068717T>C						IDI2-AS1_ENST00000420381.1_RNA|IDI2-AS1_ENST00000437374.1_RNA|IDI2-AS1_ENST00000434470.1_RNA|IDI2-AS1_ENST00000428780.2_RNA|IDI2-AS1_ENST00000536039.1_RNA		NM_033261.2	NP_150286.1	Q9BXS1	IDI2_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;0.143)	Epithelial(11;0.067)|OV - Ovarian serous cystadenocarcinoma(14;0.169)|all cancers(11;0.192)	3	207	-		Colorectal(49;0.235)							Splice_Site	SNP	ENST00000277517.1	37		CCDS7055.1	.	.	.	.	.	.	.	.	.	.	T	11.29	1.595474	0.28445	.	.	ENSG00000148377	ENST00000277517	.	.	.	3.02	1.86	0.25419	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.4305	0.21794	0.0:0.1301:0.0:0.8699	.	.	.	.	.	-1	.	.	.	-	.	.	IDI2	1058717	1.000000	0.71417	0.167000	0.22817	0.183000	0.23260	4.259000	0.58828	0.383000	0.24910	0.113000	0.15668	.		0.493	IDI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046411.1	NM_033261	Intron	11	29	0	0	0	1	0	11	29					C	1068717	T	C	1068717	5	2	435	1	0	0	0	0	0	0	1	0	7500	1594	55	4	554	4	IDI2	10	1068717	Splice_Site	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	3052	1068717	134466030	4561	25486											
ADARB2	105	broad.mit.edu	37	chr10	1263014	1263014	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccccggactcgatcttggtgCgcaggtgcccgcggaacttc	5	8	13	15	5	1	0	0	0	1	0	3	3	1	2	3	4	3	1	3	4	1	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:1263014C>T	ENST00000381312.1	-	7	1884	c.1559G>A	c.(1558-1560)cGc>cAc	p.R520H	ADARB2_ENST00000469464.1_5'UTR	NM_018702.3	NP_061172.1	Q9NS39	RED2_HUMAN	adenosine deaminase, RNA-specific, B2 (non-functional)	520	A to I editase. {ECO:0000255|PROSITE- ProRule:PRU00240}.				mRNA processing (GO:0006397)	nucleus (GO:0005634)	adenosine deaminase activity (GO:0004000)|double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|single-stranded RNA binding (GO:0003727)			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1)	41		all_epithelial(10;0.059)|Colorectal(49;0.0815)		all cancers(11;0.0224)|GBM - Glioblastoma multiforme(2;0.0414)|Epithelial(11;0.165)		GATCTTGGTGCGCAGGTGCCC	0.647																																						ENST00000381312.1																			0				breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1)	41						c.(1558-1560)cGc>cAc		adenosine deaminase, RNA-specific, B2 (non-functional)							49	43	45					10																	1263014		2203	4300	6503	SO:0001583	missense	105				mRNA processing	mitochondrion|nucleus	adenosine deaminase activity|double-stranded RNA binding|metal ion binding|single-stranded RNA binding	g.chr10:1263014C>T	AF034837	CCDS7058.1	10p15.3	2013-05-20	2013-05-20		ENSG00000185736	ENSG00000185736	3.5.-.-		227	protein-coding gene	gene with protein product	"RED2 homolog (rat)"	602065	"adenosine deaminase, RNA-specific, B2 (RED2 homolog rat)", "adenosine deaminase, RNA-specific, B2"			9272162, 10836796	Standard	NM_018702		Approved	RED2, hRED2, ADAR3	uc009xhq.3	Q9NS39	OTTHUMG00000017543	ENST00000381312.1:c.1559G>A	10.37:g.1263014C>T	ENSP00000370713:p.Arg520His					ADARB2_ENST00000469464.1_5'UTR	p.R520H	NM_018702.3	NP_061172.1	Q9NS39	RED2_HUMAN		all cancers(11;0.0224)|GBM - Glioblastoma multiforme(2;0.0414)|Epithelial(11;0.165)	7	1884	-		all_epithelial(10;0.059)|Colorectal(49;0.0815)	520			A to I editase.		B2RPJ5|Q5VUT6|Q5VW42	Missense_Mutation	SNP	ENST00000381312.1	37	c.1559G>A	CCDS7058.1	.	.	.	.	.	.	.	.	.	.	C	36	5.599757	0.96614	.	.	ENSG00000185736	ENST00000381312	D	0.94280	-3.39	5.37	5.37	0.77165	Adenosine deaminase/editase (3);	0.000000	0.85682	D	0.000000	D	0.96503	0.8859	M	0.72353	2.195	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.96866	0.9636	10	0.87932	D	0	-40.1357	19.0884	0.93215	0.0:1.0:0.0:0.0	.	520	Q9NS39	RED2_HUMAN	H	520	ENSP00000370713:R520H	ENSP00000370713:R520H	R	-	2	0	ADARB2	1253014	1.000000	0.71417	1.000000	0.80357	0.913000	0.54294	7.701000	0.84566	2.501000	0.84356	0.491000	0.48974	CGC		0.647	ADARB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046426.1	NM_018702		4	3	0	0	0	1	0	4	3					T	1263014	C	T	1263014	3	4	435	1	0	0	0	0	1	0	0	0	283	768	27	1	676	1	ADARB2	10	1263014	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	194297	1263014	134271733	4562	25487											
ADARB2	105	broad.mit.edu	37	chr10	1279710	1279710	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctcacgtagagatggaagAggatgttctctcgcagccgg	9	9	14	9	3	2	2	1	0	1	2	4	5	2	4	1	3	2	4	1	3	2	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:1279710A>G	ENST00000381312.1	-	6	1764	c.1439T>C	c.(1438-1440)cTc>cCc	p.L480P	ADARB2_ENST00000469464.1_5'UTR	NM_018702.3	NP_061172.1	Q9NS39	RED2_HUMAN	adenosine deaminase, RNA-specific, B2 (non-functional)	480	A to I editase. {ECO:0000255|PROSITE- ProRule:PRU00240}.				mRNA processing (GO:0006397)	nucleus (GO:0005634)	adenosine deaminase activity (GO:0004000)|double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|single-stranded RNA binding (GO:0003727)			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1)	41		all_epithelial(10;0.059)|Colorectal(49;0.0815)		all cancers(11;0.0224)|GBM - Glioblastoma multiforme(2;0.0414)|Epithelial(11;0.165)		GAGATGGAAGAGGATGTTCTC	0.547																																						ENST00000381312.1																			0				breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1)	41						c.(1438-1440)cTc>cCc		adenosine deaminase, RNA-specific, B2 (non-functional)							160	136	144					10																	1279710		2203	4300	6503	SO:0001583	missense	105				mRNA processing	mitochondrion|nucleus	adenosine deaminase activity|double-stranded RNA binding|metal ion binding|single-stranded RNA binding	g.chr10:1279710A>G	AF034837	CCDS7058.1	10p15.3	2013-05-20	2013-05-20		ENSG00000185736	ENSG00000185736	3.5.-.-		227	protein-coding gene	gene with protein product	"RED2 homolog (rat)"	602065	"adenosine deaminase, RNA-specific, B2 (RED2 homolog rat)", "adenosine deaminase, RNA-specific, B2"			9272162, 10836796	Standard	NM_018702		Approved	RED2, hRED2, ADAR3	uc009xhq.3	Q9NS39	OTTHUMG00000017543	ENST00000381312.1:c.1439T>C	10.37:g.1279710A>G	ENSP00000370713:p.Leu480Pro					ADARB2_ENST00000469464.1_5'UTR	p.L480P	NM_018702.3	NP_061172.1	Q9NS39	RED2_HUMAN		all cancers(11;0.0224)|GBM - Glioblastoma multiforme(2;0.0414)|Epithelial(11;0.165)	6	1764	-		all_epithelial(10;0.059)|Colorectal(49;0.0815)	480			A to I editase.		B2RPJ5|Q5VUT6|Q5VW42	Missense_Mutation	SNP	ENST00000381312.1	37	c.1439T>C	CCDS7058.1	.	.	.	.	.	.	.	.	.	.	A	7.368	0.626304	0.14257	.	.	ENSG00000185736	ENST00000381312	D	0.93659	-3.26	5.54	4.39	0.52855	Adenosine deaminase/editase (3);	0.133130	0.50627	D	0.000104	D	0.92515	0.7623	M	0.79258	2.445	0.80722	D	1	B	0.17465	0.022	B	0.23852	0.049	D	0.88666	0.3192	10	0.34782	T	0.22	-33.3867	12.6804	0.56918	0.8619:0.1381:0.0:0.0	.	480	Q9NS39	RED2_HUMAN	P	480	ENSP00000370713:L480P	ENSP00000370713:L480P	L	-	2	0	ADARB2	1269710	1.000000	0.71417	0.942000	0.38095	0.072000	0.16883	3.805000	0.55575	0.905000	0.36596	-0.460000	0.05396	CTC		0.547	ADARB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046426.1	NM_018702		32	48	0	0	0	1	0	32	48					G	1279710	A	G	1279710	3	3	435	1	0	0	0	0	1	0	0	0	283	304	11	4	800	4	ADARB2	10	1279710	Missense_Mutation	SNP	A	TCGA-XK-AAIW-01A-11D-A41K-08	16696	1279710	134255037	4563	25488											
PFKP	5214	broad.mit.edu	37	chr10	3124650	3124650	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gccaaggtgtacttcatctaCgaggtcagtgtctgcccctc	7	11	10	13	1	4	0	2	0	2	0	5	1	4	0	3	2	3	1	3	2	3	3	rs542187326		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:3124650C>T	ENST00000381125.4	+	2	259	c.183C>T	c.(181-183)taC>taT	p.Y61Y	PFKP_ENST00000381075.2_Nonsense_Mutation_p.R27*|PFKP_ENST00000421751.1_3'UTR	NM_002627.4	NP_002618.1	Q01813	PFKAP_HUMAN	phosphofructokinase, platelet	61	N-terminal catalytic PFK domain 1.				carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|fructose 6-phosphate metabolic process (GO:0006002)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	6-phosphofructokinase activity (GO:0003872)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein complex binding (GO:0032403)			breast(2)|central_nervous_system(4)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(1;0.000975)|all cancers(11;0.00351)|Epithelial(11;0.142)		ACTTCATCTACGAGGTCAGTG	0.632													C|||	1	0.000199681	0	0	5008	,	,		16299	0		0	False		,,,				2504	0.001					ENST00000381075.2																			0				breast(2)|central_nervous_system(4)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31						c.(79-81)Cga>Tga		phosphofructokinase, platelet							135	96	109					10																	3124650		2203	4300	6503	SO:0001819	synonymous_variant	5214				glycolysis	6-phosphofructokinase complex	6-phosphofructokinase activity|ATP binding|metal ion binding|protein binding	g.chr10:3124650C>T	AK092597	CCDS7059.1, CCDS55698.1	10p15.3-p15.2	2006-08-25			ENSG00000067057	ENSG00000067057	2.7.1.11		8878	protein-coding gene	gene with protein product	"Phosphofructokinase, platelet type"	171840					Standard	NM_002627		Approved	PFK-C, PFKF	uc001igp.3	Q01813	OTTHUMG00000017556	ENST00000381125.4:c.183C>T	10.37:g.3124650C>T						PFKP_ENST00000381125.4_Silent_p.Y61Y	p.R27*	NM_001242339.1	NP_001229268.1	Q01813	K6PP_HUMAN		GBM - Glioblastoma multiforme(1;0.000975)|all cancers(11;0.00351)|Epithelial(11;0.142)	3	303	+			0					B3KS15|Q5VSR7|Q5VSR8	Nonsense_Mutation	SNP	ENST00000381125.4	37	c.79C>T	CCDS7059.1	.	.	.	.	.	.	.	.	.	.	C	35	5.572352	0.96553	.	.	ENSG00000067057	ENST00000397834;ENST00000381075	.	.	.	4.31	-2.62	0.06152	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.11182	T	0.66	.	9.0312	0.36260	0.0:0.4805:0.0:0.5195	.	.	.	.	X	24;27	.	ENSP00000370465:R27X	R	+	1	2	PFKP	3114650	0.992000	0.36948	0.952000	0.39060	0.682000	0.39822	0.040000	0.13905	-0.566000	0.06054	-1.261000	0.01458	CGA		0.632	PFKP-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046454.1	NM_002627		14	34	0	0	0	1	0	14	34					T	3124650	C	T	3124650	2	4	435	1	0	0	0	0	0	0	0	1	11766	547	19	1		1	PFKP	10	3124650	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	1844940	3124650	132410097	4564	25489											
PFKP	5214	broad.mit.edu	37	chr10	3146002	3146002	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aaggaggccgtgcagaagtaCgcctacctcaacgtggtggg	10	6	15	10	3	1	1	1	0	0	1	1	2	1	2	3	4	4	2	3	4	5	2	rs143826212	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:3146002C>T	ENST00000381125.4	+	5	562	c.486C>T	c.(484-486)taC>taT	p.Y162Y	PFKP_ENST00000381075.2_Silent_p.Y154Y|PFKP_ENST00000421751.1_3'UTR	NM_002627.4	NP_002618.1	Q01813	PFKAP_HUMAN	phosphofructokinase, platelet	162	N-terminal catalytic PFK domain 1.				carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|fructose 6-phosphate metabolic process (GO:0006002)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	6-phosphofructokinase activity (GO:0003872)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein complex binding (GO:0032403)			breast(2)|central_nervous_system(4)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(1;0.000975)|all cancers(11;0.00351)|Epithelial(11;0.142)		TGCAGAAGTACGCCTACCTCA	0.627													c|||	2	0.000399361	0.0015	0	5008	,	,		17265	0		0	False		,,,				2504	0					ENST00000381075.2																			0				breast(2)|central_nervous_system(4)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31						c.(460-462)taC>taT		phosphofructokinase, platelet		T	,	3,4403	6.2+/-15.9	0,3,2200	108	82	91		462,486	-5.5	0	10	dbSNP_134	91	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	PFKP	NM_001242339.1,NM_002627.4	,	0,3,6500	TT,TC,CC		0.0,0.0681,0.0231	,	154/777,162/785	3146002	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	5214				glycolysis	6-phosphofructokinase complex	6-phosphofructokinase activity|ATP binding|metal ion binding|protein binding	g.chr10:3146002C>T	AK092597	CCDS7059.1, CCDS55698.1	10p15.3-p15.2	2006-08-25			ENSG00000067057	ENSG00000067057	2.7.1.11		8878	protein-coding gene	gene with protein product	"Phosphofructokinase, platelet type"	171840					Standard	NM_002627		Approved	PFK-C, PFKF	uc001igp.3	Q01813	OTTHUMG00000017556	ENST00000381125.4:c.486C>T	10.37:g.3146002C>T						PFKP_ENST00000381125.4_Silent_p.Y162Y	p.Y154Y	NM_001242339.1	NP_001229268.1	Q01813	K6PP_HUMAN		GBM - Glioblastoma multiforme(1;0.000975)|all cancers(11;0.00351)|Epithelial(11;0.142)	7	686	+			162					B3KS15|Q5VSR7|Q5VSR8	Silent	SNP	ENST00000381125.4	37	c.462C>T	CCDS7059.1																																																																																				0.627	PFKP-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046454.1	NM_002627		11	24	0	0	0	1	0	11	24					T	3146002	C	T	3146002	2	4	435	1	0	0	0	0	0	0	0	1	11766	547	19	1		1	PFKP	10	3146002	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	21352	3146002	132388745	4565	25490											
PFKP	5214	broad.mit.edu	37	chr10	3150938	3150938	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acacacgtgtgaccatcctcGggcacgtgcagagaggaggg	10	5	15	11	3	0	2	0	1	0	1	2	4	1	3	2	3	1	2	2	3	0	0	rs142802088		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:3150938G>A	ENST00000381125.4	+	9	992	c.916G>A	c.(916-918)Ggg>Agg	p.G306R	PFKP_ENST00000381075.2_Missense_Mutation_p.G298R	NM_002627.4	NP_002618.1	Q01813	PFKAP_HUMAN	phosphofructokinase, platelet	306	N-terminal catalytic PFK domain 1.				carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|fructose 6-phosphate metabolic process (GO:0006002)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	6-phosphofructokinase activity (GO:0003872)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein complex binding (GO:0032403)			breast(2)|central_nervous_system(4)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(1;0.000975)|all cancers(11;0.00351)|Epithelial(11;0.142)		GACCATCCTCGGGCACGTGCA	0.567																																						ENST00000381075.2																			0				breast(2)|central_nervous_system(4)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31						c.(892-894)Ggg>Agg		phosphofructokinase, platelet		G	ARG/GLY,ARG/GLY	1,4405	2.1+/-5.4	0,1,2202	152	134	140		892,916	5.2	0.3	10	dbSNP_134	140	0,8600		0,0,4300	no	missense,missense	PFKP	NM_001242339.1,NM_002627.4	125,125	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging	298/777,306/785	3150938	1,13005	2203	4300	6503	SO:0001583	missense	5214				glycolysis	6-phosphofructokinase complex	6-phosphofructokinase activity|ATP binding|metal ion binding|protein binding	g.chr10:3150938G>A	AK092597	CCDS7059.1, CCDS55698.1	10p15.3-p15.2	2006-08-25			ENSG00000067057	ENSG00000067057	2.7.1.11		8878	protein-coding gene	gene with protein product	"Phosphofructokinase, platelet type"	171840					Standard	NM_002627		Approved	PFK-C, PFKF	uc001igp.3	Q01813	OTTHUMG00000017556	ENST00000381125.4:c.916G>A	10.37:g.3150938G>A	ENSP00000370517:p.Gly306Arg					PFKP_ENST00000381125.4_Missense_Mutation_p.G306R	p.G298R	NM_001242339.1	NP_001229268.1	Q01813	K6PP_HUMAN		GBM - Glioblastoma multiforme(1;0.000975)|all cancers(11;0.00351)|Epithelial(11;0.142)	11	1116	+			306					B3KS15|Q5VSR7|Q5VSR8	Missense_Mutation	SNP	ENST00000381125.4	37	c.892G>A	CCDS7059.1	.	.	.	.	.	.	.	.	.	.	G	32	5.129056	0.94473	2.27E-4	0.0	ENSG00000067057	ENST00000381125;ENST00000397834;ENST00000381075;ENST00000415005	D;D;D	0.88586	-2.4;-2.4;-2.4	5.2	5.2	0.72013	Phosphofructokinase domain (2);Phosphofructokinase, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.97663	0.9234	H	0.99900	4.915	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;0.999	D	0.99671	1.0996	10	0.87932	D	0	.	19.0968	0.93255	0.0:0.0:1.0:0.0	.	298;298;306	B3KS15;Q5VSR7;Q01813	.;.;K6PP_HUMAN	R	306;295;298;90	ENSP00000370517:G306R;ENSP00000370465:G298R;ENSP00000408858:G90R	ENSP00000370465:G298R	G	+	1	0	PFKP	3140938	1.000000	0.71417	0.286000	0.24833	0.881000	0.50899	9.577000	0.98196	2.596000	0.87737	0.561000	0.74099	GGG		0.567	PFKP-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046454.1	NM_002627		21	42	0	0	0	1	0	21	42					A	3150938	G	A	3150938	3	1	435	1	0	0	0	0	1	0	0	0	11766	1116	39	2	950	2	PFKP	10	3150938	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	4936	3150938	132383809	4566	25491											
PITRM1	10531	broad.mit.edu	37	chr10	3208440	3208440	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cctgtgaaggcgttcatgaaCgtggagagggaccggttcaa	10	8	15	8	3	2	3	2	2	0	1	2	5	2	4	2	4	1	2	2	4	3	2	rs375556940		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:3208440C>T	ENST00000224949.4	-	4	433	c.399G>A	c.(397-399)acG>acA	p.T133T	PITRM1-AS1_ENST00000598280.1_RNA|PITRM1_ENST00000380989.2_Silent_p.T133T|PITRM1-AS1_ENST00000601046.1_RNA|PITRM1_ENST00000451104.2_Silent_p.T101T			Q5JRX3	PREP_HUMAN	pitrilysin metallopeptidase 1	133					positive regulation of catalytic activity (GO:0043085)|proteolysis (GO:0006508)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	enzyme activator activity (GO:0008047)|metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			breast(2)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|urinary_tract(3)	33						CGTTCATGAACGTGGAGAGGG	0.483													C|||	1	0.000199681	0	0	5008	,	,		20730	0		0.001	False		,,,				2504	0					ENST00000380989.2																			0				breast(2)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|urinary_tract(3)	33						c.(397-399)acG>acA		pitrilysin metallopeptidase 1		C	,,	1,3835		0,1,1917	217	210	212		399,303,399	-11.1	0	10		212	1,8275		0,1,4137	no	coding-synonymous,coding-synonymous,coding-synonymous	PITRM1	NM_001242307.1,NM_001242309.1,NM_014889.3	,,	0,2,6054	TT,TC,CC		0.0121,0.0261,0.0165	,,	133/1039,101/940,133/1038	3208440	2,12110	1918	4138	6056	SO:0001819	synonymous_variant	10531				proteolysis		metalloendopeptidase activity|zinc ion binding	g.chr10:3208440C>T	AB029027	CCDS55699.1, CCDS55700.1, CCDS59208.1	10p15.2	2008-07-30	2005-08-17		ENSG00000107959	ENSG00000107959			17663	protein-coding gene	gene with protein product	"PreP peptidasome"		"pitrilysin metalloproteinase 1"			1036083, 10470851, 16849325	Standard	NM_014889		Approved	MP1, KIAA1104, hMP1, PreP	uc009xhv.2	Q5JRX3	OTTHUMG00000017557	ENST00000224949.4:c.399G>A	10.37:g.3208440C>T						PITRM1_ENST00000224949.4_Silent_p.T133T|PITRM1-AS1_ENST00000598280.1_RNA|PITRM1_ENST00000451104.2_Silent_p.T101T	p.T133T	NM_001242307.1|NM_014889.3	NP_001229236.1|NP_055704.2	E7ES23	E7ES23_HUMAN			4	437	-			101					B3KMJ6|B4E0J8|C9JSL2|E7ES23|O95204|Q2M2G6|Q4VBR1|Q5JRW7|Q7L5Z7|Q9BSI6|Q9BVJ5|Q9UPP8	Silent	SNP	ENST00000224949.4	37	c.399G>A	CCDS59208.1																																																																																				0.483	PITRM1-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000046469.2			33	78	0	0	0	1	0	33	78					T	3208440	C	T	3208440	2	4	435	1	0	0	0	0	0	0	0	1	11953	523	19	1		1	PITRM1	10	3208440	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	57502	3208440	132326307	4567	25492											
AKR1E2	83592	broad.mit.edu	37	chr10	4875568	4875568	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcacctgccataagaagtcCttggtggaaacagcatgcag	12	8	11	10	0	0	1	0	0	0	1	1	2	1	2	3	2	5	3	3	2	3	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:4875568C>A	ENST00000298375.7	+	3	305	c.234C>A	c.(232-234)tcC>tcA	p.S78S	AKR1E2_ENST00000525281.1_Intron|AKR1E2_ENST00000532248.1_Silent_p.S78S|AKR1E2_ENST00000334019.4_Silent_p.S78S|AKR1E2_ENST00000345253.5_Silent_p.S78S	NM_001040177.2	NP_001035267.1	Q96JD6	AKCL2_HUMAN	aldo-keto reductase family 1, member E2	78						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	1,5-anhydro-D-fructose reductase activity (GO:0050571)			NS(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)	15						ATAAGAAGTCCTTGGTGGAAA	0.537																																					NSCLC(43;343 1097 20371 28813 45509)	ENST00000298375.7																			0				NS(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)	15						c.(232-234)tcC>tcA		aldo-keto reductase family 1, member E2							213	183	193					10																	4875568		2203	4300	6503	SO:0001819	synonymous_variant	83592					cytoplasm	1,5-anhydro-D-fructose reductase activity	g.chr10:4875568C>A	AB040820	CCDS31134.1, CCDS59210.1, CCDS59209.1	10p15.2	2009-09-09	2009-09-09	2009-09-09	ENSG00000165568	ENSG00000165568		"Aldo-keto reductases"	23437	protein-coding gene	gene with protein product			"aldo-keto reductase family 1, member C-like 2"	AKRDC1, AKR1CL2			Standard	NM_001271021		Approved	MGC10612	uc001ihi.4	Q96JD6	OTTHUMG00000017577	ENST00000298375.7:c.234C>A	10.37:g.4875568C>A						AKR1E2_ENST00000532248.1_Silent_p.S78S|AKR1E2_ENST00000525281.1_Intron|AKR1E2_ENST00000345253.5_Silent_p.S78S|AKR1E2_ENST00000334019.4_Silent_p.S78S	p.S78S	NM_001040177.1	NP_001035267.1	Q96JD6	AKCL2_HUMAN			3	305	+			78					Q86Z16|Q86Z17|Q86Z18|Q9BU71	Silent	SNP	ENST00000298375.7	37	c.234C>A	CCDS31134.1																																																																																				0.537	AKR1E2-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046520.4	NM_031436		35	55	1	0	1.59932e-28	1	1.79037e-28	35	55					A	4875568	C	A	4875568	2	1	435	1	0	0	0	0	0	0	0	1	474	668	24	5		5	AKR1E2	10	4875568	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	1667128	4875568	130659179	4568	25493											
AKR1C1	1645	broad.mit.edu	37	chr10	5008275	5008275	+	Splice_Site	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	catattctacacttcaaaggTactgtgcctatgatgagctt	11	14	7	9	0	2	2	1	2	1	0	2	2	2	2	1	1	4	2	1	1	5	7			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:5008275T>G	ENST00000380872.4	+	2	444		c.e2+2		AKR1C1_ENST00000434459.2_Splice_Site|AKR1C1_ENST00000380859.1_Splice_Site|AKR1C1_ENST00000477661.1_Splice_Site	NM_001353.5	NP_001344.2	Q04828	AK1C1_HUMAN	aldo-keto reductase family 1, member C1						bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|cellular response to jasmonic acid stimulus (GO:0071395)|cholesterol homeostasis (GO:0042632)|daunorubicin metabolic process (GO:0044597)|digestion (GO:0007586)|doxorubicin metabolic process (GO:0044598)|epithelial cell differentiation (GO:0030855)|intestinal cholesterol absorption (GO:0030299)|oxidation-reduction process (GO:0055114)|phototransduction, visible light (GO:0007603)|progesterone metabolic process (GO:0042448)|protein homooligomerization (GO:0051260)|response to organophosphorus (GO:0046683)|retinal metabolic process (GO:0042574)|retinoid metabolic process (GO:0001523)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	17-alpha,20-alpha-dihydroxypregn-4-en-3-one dehydrogenase activity (GO:0047006)|alditol:NADP+ 1-oxidoreductase activity (GO:0004032)|aldo-keto reductase (NADP) activity (GO:0004033)|androsterone dehydrogenase (B-specific) activity (GO:0047042)|bile acid binding (GO:0032052)|carboxylic acid binding (GO:0031406)|indanol dehydrogenase activity (GO:0047718)|ketosteroid monooxygenase activity (GO:0047086)|oxidoreductase activity, acting on NAD(P)H, quinone or similar compound as acceptor (GO:0016655)|phenanthrene 9,10-monooxygenase activity (GO:0018636)|trans-1,2-dihydrobenzene-1,2-diol dehydrogenase activity (GO:0047115)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(2)|ovary(3)|prostate(1)	13					Acetylsalicylic acid(DB00945)|Salicylic acid(DB00936)	ACTTCAAAGGTACTGTGCCTA	0.428																																					Colon(130;2054 2316 13360 15380)	ENST00000380872.4																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(2)|ovary(3)|prostate(1)	13						c.e2+2		aldo-keto reductase family 1, member C1							85	72	76					10																	5008275		2202	4280	6482	SO:0001630	splice_region_variant	1645							g.chr10:5008275T>G	D26124	CCDS7061.1	10p15-p14	2012-12-04	2012-12-04		ENSG00000187134	ENSG00000187134	1.3.1.20, 1.1.1.149, 1.1.1.112	"Aldo-keto reductases"	384	protein-coding gene	gene with protein product	"dihydrodiol dehydrogenase 1; 20-alpha (3-alpha)-hydroxysteroid dehydrogenase"	600449	"aldo-keto reductase family 1, member C1 (dihydrodiol dehydrogenase 1; 20-alpha (3-alpha)-hydroxysteroid dehydrogenase)"	DDH1		8011662	Standard	NM_001353		Approved	DDH, MBAB, DD1, HAKRC		Q04828	OTTHUMG00000017580	ENST00000380872.4:c.252+2T>G	10.37:g.5008275T>G						AKR1C1_ENST00000477661.1_Splice_Site|AKR1C1_ENST00000434459.2_Splice_Site|AKR1C1_ENST00000380859.1_Splice_Site		NM_001353.5	NP_001344.2					2	444	+								P52896|Q5SR15|Q7M4N2|Q9UCX2	Splice_Site	SNP	ENST00000380872.4	37		CCDS7061.1	.	.	.	.	.	.	.	.	.	.	T	10.49	1.365056	0.24684	.	.	ENSG00000187134	ENST00000434459;ENST00000380872;ENST00000442997;ENST00000380859	.	.	.	2.48	2.48	0.30137	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.4675	0.32964	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	AKR1C1	4998275	1.000000	0.71417	0.775000	0.31657	0.448000	0.32197	5.856000	0.69518	1.140000	0.42260	0.254000	0.18369	.		0.428	AKR1C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046523.2	NM_001353	Intron	27	27	0	0	0	1	0	27	27					G	5008275	T	G	5008275	5	3	435	1	0	0	0	0	0	0	1	0	469	1652	57	5	260	5	AKR1C1	10	5008275	Splice_Site	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	132707	5008275	130526472	4569	25494											
TUBAL3	79861	broad.mit.edu	37	chr10	5436177	5436177	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gatggcatatatcatagacgGcctcgttgtccaccatgaag	11	10	10	10	2	1	2	1	1	0	1	3	3	2	2	3	2	0	2	3	2	4	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:5436177G>A	ENST00000380419.3	-	4	681	c.644C>T	c.(643-645)gCc>gTc	p.A215V	TUBAL3_ENST00000479328.1_Missense_Mutation_p.A175V	NM_024803.2	NP_079079.1	A6NHL2	TBAL3_HUMAN	tubulin, alpha-like 3	215					microtubule-based process (GO:0007017)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|microtubule (GO:0005874)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(7)|prostate(2)|skin(3)	25						ATCATAGACGGCCTCGTTGTC	0.522																																						ENST00000380419.3																			0				breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(7)|prostate(2)|skin(3)	25						c.(643-645)gCc>gTc		tubulin, alpha-like 3							148	122	130					10																	5436177		2203	4300	6503	SO:0001583	missense	79861				microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity	g.chr10:5436177G>A	AK025318	CCDS7066.2, CCDS53491.1	10p15.1	2007-03-15			ENSG00000178462	ENSG00000178462		"Tubulins"	23534	protein-coding gene	gene with protein product							Standard	NM_024803		Approved	FLJ21665	uc001ihy.3	A6NHL2	OTTHUMG00000017595	ENST00000380419.3:c.644C>T	10.37:g.5436177G>A	ENSP00000369784:p.Ala215Val					TUBAL3_ENST00000479328.1_Missense_Mutation_p.A175V	p.A215V	NM_024803.2	NP_079079.1	A6NHL2	TBAL3_HUMAN			4	681	-			215					B4DKL2|Q4QQJ5|Q9H6Z0	Missense_Mutation	SNP	ENST00000380419.3	37	c.644C>T	CCDS7066.2	.	.	.	.	.	.	.	.	.	.	G	17.74	3.463704	0.63513	.	.	ENSG00000178462	ENST00000380419;ENST00000479328	T;T	0.72505	-0.66;-0.66	4.2	4.2	0.49525	Tubulin/FtsZ, GTPase domain (4);	0.000000	0.47093	D	0.000242	D	0.87374	0.6161	M	0.93106	3.38	0.53688	D	0.999979	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.90840	0.4723	10	0.87932	D	0	.	16.0115	0.80406	0.0:0.0:1.0:0.0	.	175;215	A6NHL2-2;A6NHL2	.;TBAL3_HUMAN	V	215;175	ENSP00000369784:A215V;ENSP00000418799:A175V	ENSP00000369784:A215V	A	-	2	0	TUBAL3	5426177	1.000000	0.71417	0.964000	0.40570	0.115000	0.19883	7.740000	0.84986	2.292000	0.77174	0.650000	0.86243	GCC		0.522	TUBAL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046548.2	NM_024803		13	19	0	0	0	1	0	13	19					A	5436177	G	A	5436177	3	1	435	1	0	0	0	0	1	0	0	0	16748	1203	42	3	700	3	TUBAL3	10	5436177	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	427902	5436177	130098570	4570	25495											
CALML3	810	broad.mit.edu	37	chr10	5567358	5567358	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaacggcttcgtcagcgccGccgagctgcgacacgtcatg	7	6	13	15	7	2	0	2	0	0	0	3	2	2	0	2	1	4	3	2	1	1	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:5567358G>A	ENST00000315238.1	+	1	435	c.310G>A	c.(310-312)Gcc>Acc	p.A104T	RP11-116G8.5_ENST00000442008.2_RNA|CALML3-AS1_ENST00000543008.1_RNA|CALML3-AS1_ENST00000542093.1_RNA|CALML3-AS1_ENST00000545372.1_RNA	NM_005185.2	NP_005176.1	P27482	CALL3_HUMAN	calmodulin-like 3	104	EF-hand 3. {ECO:0000255|PROSITE- ProRule:PRU00448}.					extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			endometrium(3)|lung(2)	5						CGTCAGCGCCGCCGAGCTGCG	0.652																																					Colon(173;2070 2647 27580 52203)	ENST00000315238.1																			0				endometrium(3)|lung(2)	5						c.(310-312)Gcc>Acc		calmodulin-like 3							80	60	67					10																	5567358		2203	4300	6503	SO:0001583	missense	810						calcium ion binding	g.chr10:5567358G>A	X13461	CCDS7069.1	10p15.1	2013-01-10			ENSG00000178363	ENSG00000178363		"EF-hand domain containing"	1452	protein-coding gene	gene with protein product		114184				8476923	Standard	NM_005185		Approved	CLP	uc001iie.1	P27482	OTTHUMG00000017597	ENST00000315238.1:c.310G>A	10.37:g.5567358G>A	ENSP00000315299:p.Ala104Thr					RP11-116G8.5_ENST00000442008.2_RNA|CALML3-AS1_ENST00000542093.1_RNA|CALML3-AS1_ENST00000545372.1_RNA	p.A104T	NM_005185.2	NP_005176.1	P27482	CALL3_HUMAN			1	435	+			104			EF-hand 3.		B2R9V6|Q5SQI4	Missense_Mutation	SNP	ENST00000315238.1	37	c.310G>A	CCDS7069.1	.	.	.	.	.	.	.	.	.	.	G	9.933	1.215470	0.22373	.	.	ENSG00000178363	ENST00000315238	T	0.37915	1.17	5.23	4.33	0.51752	EF-hand-like domain (1);	0.000000	0.49916	D	0.000129	T	0.26159	0.0638	N	0.25144	0.715	0.58432	D	0.999999	B	0.28026	0.198	B	0.21917	0.037	T	0.07481	-1.0770	10	0.72032	D	0.01	-34.5237	14.0237	0.64573	0.0:0.0:0.8476:0.1524	.	104	P27482	CALL3_HUMAN	T	104	ENSP00000315299:A104T	ENSP00000315299:A104T	A	+	1	0	CALML3	5557358	1.000000	0.71417	0.027000	0.17364	0.003000	0.03518	4.779000	0.62375	1.200000	0.43188	-0.261000	0.10672	GCC		0.652	CALML3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046555.1	NM_005185		5	12	0	0	0	1	0	5	12					A	5567358	G	A	5567358	3	1	435	1	0	0	0	0	1	0	0	0	2587	1087	38	1	312	1	CALML3	10	5567358	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	131181	5567358	129967389	4571	25496											
FBXO18	84893	broad.mit.edu	37	chr10	5955734	5955734	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cactacaacattttctattgCctatatcttcaggagaattc	12	15	4	10	0	3	1	1	0	2	1	4	2	3	1	1	1	3	0	1	1	6	9			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:5955734C>T	ENST00000362091.4	+	7	1351	c.1236C>T	c.(1234-1236)tgC>tgT	p.C412C	FBXO18_ENST00000379999.5_Silent_p.C463C|FBXO18_ENST00000397269.3_5'UTR	NM_001258453.1|NM_178150.2	NP_001245382.1|NP_835363.1	Q8NFZ0	FBX18_HUMAN	F-box protein, helicase, 18	412					DNA catabolic process, endonucleolytic (GO:0000737)|positive regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902231)|positive regulation of protein phosphorylation (GO:0001934)|response to intra-S DNA damage checkpoint signaling (GO:0072429)	nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)			NS(2)|breast(2)|kidney(2)|large_intestine(16)|lung(9)|ovary(2)|prostate(3)|skin(3)|stomach(1)	40						TTTTCTATTGCCTATATCTTC	0.393																																						ENST00000379999.5																			0				NS(2)|breast(2)|kidney(2)|large_intestine(16)|lung(9)|ovary(2)|prostate(3)|skin(3)|stomach(1)	40						c.(1387-1389)tgC>tgT		F-box protein, helicase, 18							162	154	157					10																	5955734		2203	4300	6503	SO:0001819	synonymous_variant	84893				DNA repair	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding	g.chr10:5955734C>T	AK095343	CCDS7072.1, CCDS7073.1, CCDS73064.1	10p15.1	2004-08-24	2004-06-15		ENSG00000134452	ENSG00000134452		"F-boxes /  "other""	13620	protein-coding gene	gene with protein product		607222	"F-box only protein 18"			10531037, 11956208	Standard	NM_032807		Approved	FBH1, FLJ14590, Fbx18	uc001iit.4	Q8NFZ0	OTTHUMG00000017609	ENST00000362091.4:c.1236C>T	10.37:g.5955734C>T						FBXO18_ENST00000362091.4_Silent_p.C412C|FBXO18_ENST00000397269.3_5'UTR|FBXO18_ENST00000379994.1_Silent_p.C149C	p.C463C	NM_032807.4	NP_116196.3	Q8NFZ0	FBX18_HUMAN			8	1493	+			412					Q5JVB0|Q5JVB1|Q7Z4Q6|Q7Z4R0|Q8N1P5|Q8N586|Q96E82|Q96K67|Q96SW7|Q9UFB2	Silent	SNP	ENST00000362091.4	37	c.1389C>T	CCDS7072.1																																																																																				0.393	FBXO18-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046596.1	NM_032807		30	34	0	0	0	1	0	30	34					T	5955734	C	T	5955734	2	4	435	1	0	0	0	0	0	0	0	1	5731	747	26	3		3	FBXO18	10	5955734	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	388376	5955734	129579013	4572	25497											
FBXO18	84893	broad.mit.edu	37	chr10	5960417	5960417	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccctgttcacagtgccccaCacccacgtcttctatctcac	7	10	5	19	1	4	0	2	0	3	0	5	0	4	0	4	0	1	1	4	0	1	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:5960417C>T	ENST00000362091.4	+	13	2191	c.2076C>T	c.(2074-2076)caC>caT	p.H692H	FBXO18_ENST00000379999.5_Silent_p.H743H|FBXO18_ENST00000397269.3_Silent_p.H179H	NM_001258453.1|NM_178150.2	NP_001245382.1|NP_835363.1	Q8NFZ0	FBX18_HUMAN	F-box protein, helicase, 18	692					DNA catabolic process, endonucleolytic (GO:0000737)|positive regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902231)|positive regulation of protein phosphorylation (GO:0001934)|response to intra-S DNA damage checkpoint signaling (GO:0072429)	nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)			NS(2)|breast(2)|kidney(2)|large_intestine(16)|lung(9)|ovary(2)|prostate(3)|skin(3)|stomach(1)	40						CAGTGCCCCACACCCACGTCT	0.557																																						ENST00000379999.5																			0				NS(2)|breast(2)|kidney(2)|large_intestine(16)|lung(9)|ovary(2)|prostate(3)|skin(3)|stomach(1)	40						c.(2227-2229)caC>caT		F-box protein, helicase, 18							141	120	127					10																	5960417		2203	4300	6503	SO:0001819	synonymous_variant	84893				DNA repair	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding	g.chr10:5960417C>T	AK095343	CCDS7072.1, CCDS7073.1, CCDS73064.1	10p15.1	2004-08-24	2004-06-15		ENSG00000134452	ENSG00000134452		"F-boxes /  "other""	13620	protein-coding gene	gene with protein product		607222	"F-box only protein 18"			10531037, 11956208	Standard	NM_032807		Approved	FBH1, FLJ14590, Fbx18	uc001iit.4	Q8NFZ0	OTTHUMG00000017609	ENST00000362091.4:c.2076C>T	10.37:g.5960417C>T						FBXO18_ENST00000362091.4_Silent_p.H692H|FBXO18_ENST00000397269.3_Silent_p.H179H|FBXO18_ENST00000379994.1_Intron	p.H743H	NM_032807.4	NP_116196.3	Q8NFZ0	FBX18_HUMAN			14	2333	+			692					Q5JVB0|Q5JVB1|Q7Z4Q6|Q7Z4R0|Q8N1P5|Q8N586|Q96E82|Q96K67|Q96SW7|Q9UFB2	Silent	SNP	ENST00000362091.4	37	c.2229C>T	CCDS7072.1																																																																																				0.557	FBXO18-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046596.1	NM_032807		47	50	0	0	0	1	0	47	50					T	5960417	C	T	5960417	2	4	435	1	0	0	0	0	0	0	0	1	5731	477	17	3		3	FBXO18	10	5960417	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	4683	5960417	129574330	4573	25498											
PRKCQ	5588	broad.mit.edu	37	chr10	6527171	6527171	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ttcatttttgatggagcatgGgagaccaatttcaaccggac	11	12	10	8	1	2	2	2	1	0	1	2	5	2	4	2	3	2	1	2	3	2	4	rs560199230		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:6527171G>A	ENST00000263125.5	-	10	1060	c.961C>T	c.(961-963)Cca>Tca	p.P321S	PRKCQ_ENST00000397176.2_Missense_Mutation_p.P321S|PRKCQ_ENST00000539722.1_Missense_Mutation_p.P196S	NM_001282644.1|NM_006257.3	NP_001269573.1|NP_006248.1	Q04759	KPCT_HUMAN	protein kinase C, theta	321					apoptotic process (GO:0006915)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|Fc-epsilon receptor signaling pathway (GO:0038095)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|membrane protein ectodomain proteolysis (GO:0006509)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of T cell apoptotic process (GO:0070233)|phototransduction, visible light (GO:0007603)|platelet activation (GO:0030168)|positive regulation of interleukin-17 production (GO:0032740)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of T-helper 17 type immune response (GO:2000318)|positive regulation of T-helper 2 cell activation (GO:2000570)|protein ubiquitination (GO:0016567)|regulation of cell growth (GO:0001558)|regulation of platelet aggregation (GO:0090330)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|regulation of transcription, DNA-templated (GO:0006355)|rhodopsin mediated signaling pathway (GO:0016056)|T cell receptor signaling pathway (GO:0050852)	cytosol (GO:0005829)|immunological synapse (GO:0001772)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(2)	45					Tamoxifen(DB00675)	ATGGAGCATGGGAGACCAATT	0.488																																					Ovarian(50;572 1126 10530 25349 30594)	ENST00000263125.5																			0				NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(2)	45						c.(961-963)Cca>Tca		protein kinase C, theta							171	163	166					10																	6527171		2203	4300	6503	SO:0001583	missense	5588				axon guidance|cellular component disassembly involved in apoptosis|intracellular signal transduction|membrane protein ectodomain proteolysis|platelet activation|regulation of cell growth|T cell receptor signaling pathway	cytosol	ATP binding|metal ion binding|protein binding|protein kinase C activity	g.chr10:6527171G>A	L07032	CCDS7079.1, CCDS55701.1, CCDS60482.1	10p15	2009-07-10			ENSG00000065675	ENSG00000065675	2.7.11.1		9410	protein-coding gene	gene with protein product		600448				8444877	Standard	NM_001282645		Approved		uc001ijj.2	Q04759	OTTHUMG00000017623	ENST00000263125.5:c.961C>T	10.37:g.6527171G>A	ENSP00000263125:p.Pro321Ser					PRKCQ_ENST00000397176.2_Missense_Mutation_p.P321S|PRKCQ_ENST00000539722.1_Missense_Mutation_p.P196S	p.P321S	NM_006257.3	NP_006248.1	Q04759	KPCT_HUMAN			10	1060	-			321					B4DF52|Q14DH6|Q3MJF1|Q64FY5|Q9H508|Q9H549	Missense_Mutation	SNP	ENST00000263125.5	37	c.961C>T	CCDS7079.1	.	.	.	.	.	.	.	.	.	.	.	5.824	0.336336	0.11013	.	.	ENSG00000065675	ENST00000263125;ENST00000397176;ENST00000539722	T;T;T	0.66995	-0.24;-0.19;-0.24	5.22	4.26	0.50523	.	0.153050	0.64402	D	0.000012	T	0.50752	0.1634	L	0.27053	0.805	0.53005	D	0.999961	B;P;B;P	0.37548	0.077;0.599;0.438;0.518	B;B;B;B	0.38985	0.071;0.206;0.287;0.172	T	0.46034	-0.9220	10	0.07813	T	0.8	.	13.2838	0.60230	0.0:0.0:0.8422:0.1578	.	196;93;321;321	B4DF52;Q5JUN8;Q04759-2;Q04759	.;.;.;KPCT_HUMAN	S	321;321;196	ENSP00000263125:P321S;ENSP00000380361:P321S;ENSP00000441752:P196S	ENSP00000263125:P321S	P	-	1	0	PRKCQ	6567177	1.000000	0.71417	0.998000	0.56505	0.307000	0.27823	4.824000	0.62701	2.595000	0.87683	0.655000	0.94253	CCA		0.488	PRKCQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046665.1	NM_006257		49	73	0	0	0	1	0	49	73					A	6527171	G	A	6527171	3	1	435	1	0	0	0	0	1	0	0	0	12515	1232	43	3	1195	3	PRKCQ	10	6527171	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	566754	6527171	129007576	4574	25499											
PRKCQ	5588	broad.mit.edu	37	chr10	6540483	6540483	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggcgctgatgcaaagcaaaGaagccttccgtctcaaattc	12	8	9	12	3	1	2	1	1	1	1	4	2	2	2	2	1	3	3	2	1	4	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:6540483G>T	ENST00000263125.5	-	5	516	c.417C>A	c.(415-417)ttC>ttA	p.F139L	PRKCQ_ENST00000397176.2_Missense_Mutation_p.F139L|PRKCQ_ENST00000539722.1_Missense_Mutation_p.F14L	NM_001282644.1|NM_006257.3	NP_001269573.1|NP_006248.1	Q04759	KPCT_HUMAN	protein kinase C, theta	139					apoptotic process (GO:0006915)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|Fc-epsilon receptor signaling pathway (GO:0038095)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|membrane protein ectodomain proteolysis (GO:0006509)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of T cell apoptotic process (GO:0070233)|phototransduction, visible light (GO:0007603)|platelet activation (GO:0030168)|positive regulation of interleukin-17 production (GO:0032740)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of T-helper 17 type immune response (GO:2000318)|positive regulation of T-helper 2 cell activation (GO:2000570)|protein ubiquitination (GO:0016567)|regulation of cell growth (GO:0001558)|regulation of platelet aggregation (GO:0090330)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|regulation of transcription, DNA-templated (GO:0006355)|rhodopsin mediated signaling pathway (GO:0016056)|T cell receptor signaling pathway (GO:0050852)	cytosol (GO:0005829)|immunological synapse (GO:0001772)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(2)	45					Tamoxifen(DB00675)	GCAAAGCAAAGAAGCCTTCCG	0.502																																					Ovarian(50;572 1126 10530 25349 30594)	ENST00000263125.5																			0				NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(2)	45						c.(415-417)ttC>ttA		protein kinase C, theta							190	158	169					10																	6540483		2203	4300	6503	SO:0001583	missense	5588				axon guidance|cellular component disassembly involved in apoptosis|intracellular signal transduction|membrane protein ectodomain proteolysis|platelet activation|regulation of cell growth|T cell receptor signaling pathway	cytosol	ATP binding|metal ion binding|protein binding|protein kinase C activity	g.chr10:6540483G>T	L07032	CCDS7079.1, CCDS55701.1, CCDS60482.1	10p15	2009-07-10			ENSG00000065675	ENSG00000065675	2.7.11.1		9410	protein-coding gene	gene with protein product		600448				8444877	Standard	NM_001282645		Approved		uc001ijj.2	Q04759	OTTHUMG00000017623	ENST00000263125.5:c.417C>A	10.37:g.6540483G>T	ENSP00000263125:p.Phe139Leu					PRKCQ_ENST00000397176.2_Missense_Mutation_p.F139L|PRKCQ_ENST00000539722.1_Missense_Mutation_p.F14L	p.F139L	NM_006257.3	NP_006248.1	Q04759	KPCT_HUMAN			5	516	-			139					B4DF52|Q14DH6|Q3MJF1|Q64FY5|Q9H508|Q9H549	Missense_Mutation	SNP	ENST00000263125.5	37	c.417C>A	CCDS7079.1	.	.	.	.	.	.	.	.	.	.	G	2.956	-0.215662	0.06101	.	.	ENSG00000065675	ENST00000263125;ENST00000397176;ENST00000539722	T;T;T	0.66995	-0.24;-0.19;-0.21	5.62	4.71	0.59529	.	0.151699	0.50627	D	0.000102	T	0.48040	0.1478	L	0.34521	1.04	0.30636	N	0.756998	B;B;B	0.09022	0.0;0.001;0.002	B;B;B	0.08055	0.001;0.003;0.003	T	0.41161	-0.9524	10	0.10902	T	0.67	.	6.095	0.20015	0.1798:0.0:0.6697:0.1505	.	14;139;139	B4DF52;Q04759-2;Q04759	.;.;KPCT_HUMAN	L	139;139;14	ENSP00000263125:F139L;ENSP00000380361:F139L;ENSP00000441752:F14L	ENSP00000263125:F139L	F	-	3	2	PRKCQ	6580489	1.000000	0.71417	1.000000	0.80357	0.226000	0.24999	2.169000	0.42434	1.346000	0.45694	-0.181000	0.13052	TTC		0.502	PRKCQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046665.1	NM_006257		10	23	1	0	0.000442599	1	0.000451009	10	23					T	6540483	G	T	6540483	3	4	435	1	0	0	0	0	1	0	0	0	12515	933	33	5	1759	5	PRKCQ	10	6540483	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	13312	6540483	128994264	4575	25500											
SFMBT2	57713	broad.mit.edu	37	chr10	7239528	7239528	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acctctttaagaaccagcacGcatttgcccggtcccaccga	10	8	7	16	3	1	1	0	0	1	1	2	2	2	1	5	1	3	2	5	1	2	3	rs537093264		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:7239528G>A	ENST00000361972.4	-	15	1770	c.1680C>T	c.(1678-1680)tgC>tgT	p.C560C	SFMBT2_ENST00000397167.1_Silent_p.C560C	NM_001018039.1	NP_001018049.1	Q5VUG0	SMBT2_HUMAN	Scm-like with four mbt domains 2	560					negative regulation of gene expression (GO:0010629)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	histone binding (GO:0042393)			NS(2)|breast(3)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(26)|lung(34)|ovary(5)|pancreas(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	99						GAACCAGCACGCATTTGCCCG	0.483													G|||	1	0.000199681	8e-04	0	5008	,	,		20898	0		0	False		,,,				2504	0					ENST00000361972.4																			0				NS(2)|breast(3)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(26)|lung(34)|ovary(5)|pancreas(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	99						c.(1678-1680)tgC>tgT		Scm-like with four mbt domains 2							115	109	111					10																	7239528		2203	4300	6503	SO:0001819	synonymous_variant	57713				regulation of transcription, DNA-dependent	nucleus		g.chr10:7239528G>A	AB046837	CCDS31138.1	10p15.1	2013-01-10	2003-11-14		ENSG00000198879	ENSG00000198879		"Sterile alpha motif (SAM) domain containing"	20256	protein-coding gene	gene with protein product		615392	"Scm-related gene containing four mbt domains 2"			10997877	Standard	NM_001029880		Approved	KIAA1617	uc009xio.2	Q5VUG0	OTTHUMG00000017630	ENST00000361972.4:c.1680C>T	10.37:g.7239528G>A						SFMBT2_ENST00000397167.1_Silent_p.C560C	p.C560C	NM_001018039.1	NP_001018049.1	Q5VUG0	SMBT2_HUMAN			15	1770	-			560					A7MD09|Q9HCF5	Silent	SNP	ENST00000361972.4	37	c.1680C>T	CCDS31138.1																																																																																				0.483	SFMBT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046673.1	NM_001029880		6	66	0	0	0	1	0	6	66					A	7239528	G	A	7239528	2	1	435	1	0	0	0	0	0	0	0	1	14158	1079	38	1		1	SFMBT2	10	7239528	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	699045	7239528	128295219	4576	25501											
ITIH5	80760	broad.mit.edu	37	chr10	7608139	7608139	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggatggtgacggtgacattgGcgttggcagacacggacacc	9	7	16	9	3	0	3	0	2	0	1	0	5	0	5	1	6	0	2	1	6	0	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:7608139G>A	ENST00000256861.6	-	13	2459	c.2381C>T	c.(2380-2382)gCc>gTc	p.A794V	ITIH5_ENST00000446830.2_Missense_Mutation_p.A576V|ITIH5_ENST00000397146.2_Intron|ITIH5_ENST00000298441.6_Missense_Mutation_p.A580V	NM_030569.6	NP_085046.5	Q86UX2	ITIH5_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 5	794					hyaluronan metabolic process (GO:0030212)	extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|kidney(6)|large_intestine(21)|lung(25)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(3)	75						GGTGACATTGGCGTTGGCAGA	0.597																																						ENST00000256861.6																			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|kidney(6)|large_intestine(21)|lung(25)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(3)	75						c.(2380-2382)gCc>gTc		inter-alpha-trypsin inhibitor heavy chain family, member 5							109	85	93					10																	7608139		2203	4300	6503	SO:0001583	missense	80760				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	g.chr10:7608139G>A			10p14	2011-10-26	2011-10-26		ENSG00000123243	ENSG00000123243			21449	protein-coding gene	gene with protein product		609783	"inter-alpha (globulin) inhibitor H5"			14744536	Standard	NM_001001851		Approved	MGC10848	uc021pmv.1	Q86UX2	OTTHUMG00000017635	ENST00000256861.6:c.2381C>T	10.37:g.7608139G>A	ENSP00000256861:p.Ala794Val					ITIH5_ENST00000446830.2_Missense_Mutation_p.A576V|ITIH5_ENST00000397146.2_Intron|ITIH5_ENST00000298441.6_Missense_Mutation_p.A580V	p.A794V	NM_030569.6	NP_085046.5	Q86UX2	ITIH5_HUMAN			13	2459	-			794					Q5T664|Q5T665|Q5T666|Q6AI60|Q6UXB7|Q8TF48|Q8WYV2|Q96K70	Missense_Mutation	SNP	ENST00000256861.6	37	c.2381C>T		.	.	.	.	.	.	.	.	.	.	G	21.2	4.116543	0.77323	.	.	ENSG00000123243	ENST00000256861;ENST00000298441;ENST00000446830	T;T;T	0.12147	2.71;2.71;2.71	5.98	5.98	0.97165	Inter-alpha-trypsin inhibitor heavy chain, C-terminal (1);	0.247666	0.48286	D	0.000186	T	0.19366	0.0465	.	.	.	0.80722	D	1	P;B	0.37207	0.587;0.239	B;B	0.38985	0.287;0.189	T	0.00451	-1.1731	9	0.52906	T	0.07	-42.0365	20.4293	0.99080	0.0:0.0:1.0:0.0	.	794;580	Q86UX2;Q86UX2-3	ITIH5_HUMAN;.	V	794;580;576	ENSP00000256861:A794V;ENSP00000298441:A580V;ENSP00000387969:A576V	ENSP00000256861:A794V	A	-	2	0	ITIH5	7648145	1.000000	0.71417	0.947000	0.38551	0.420000	0.31355	9.306000	0.96204	2.833000	0.97629	0.655000	0.94253	GCC		0.597	ITIH5-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000046688.1	NM_030569		8	9	0	0	0	1	0	8	9					A	7608139	G	A	7608139	3	1	435	1	0	0	0	0	1	0	0	0	7907	1203	42	3	497	3	ITIH5	10	7608139	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	368611	7608139	127926608	4577	25502											
ITIH5	80760	broad.mit.edu	37	chr10	7618675	7618675	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aggtagctccagagacgctcGatgtggttggtgtccccctc	6	10	13	12	2	0	1	0	0	0	1	4	3	2	1	3	3	1	4	3	3	1	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:7618675G>A	ENST00000256861.6	-	10	1797	c.1719C>T	c.(1717-1719)atC>atT	p.I573I	ITIH5_ENST00000446830.2_Silent_p.I355I|ITIH5_ENST00000397145.2_Silent_p.I573I|ITIH5_ENST00000397146.2_Silent_p.I573I|ITIH5_ENST00000298441.6_Silent_p.I359I|ITIH5_ENST00000434980.1_5'UTR	NM_030569.6	NP_085046.5	Q86UX2	ITIH5_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 5	573					hyaluronan metabolic process (GO:0030212)	extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|kidney(6)|large_intestine(21)|lung(25)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(3)	75						AGAGACGCTCGATGTGGTTGG	0.622																																						ENST00000256861.6																			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|kidney(6)|large_intestine(21)|lung(25)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(3)	75						c.(1717-1719)atC>atT		inter-alpha-trypsin inhibitor heavy chain family, member 5							49	49	49					10																	7618675		2203	4300	6503	SO:0001819	synonymous_variant	80760				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	g.chr10:7618675G>A			10p14	2011-10-26	2011-10-26		ENSG00000123243	ENSG00000123243			21449	protein-coding gene	gene with protein product		609783	"inter-alpha (globulin) inhibitor H5"			14744536	Standard	NM_001001851		Approved	MGC10848	uc021pmv.1	Q86UX2	OTTHUMG00000017635	ENST00000256861.6:c.1719C>T	10.37:g.7618675G>A						ITIH5_ENST00000446830.2_Silent_p.I355I|ITIH5_ENST00000397145.2_Silent_p.I573I|ITIH5_ENST00000434980.1_5'UTR|ITIH5_ENST00000397146.2_Silent_p.I573I|ITIH5_ENST00000298441.6_Silent_p.I359I	p.I573I	NM_030569.6	NP_085046.5	Q86UX2	ITIH5_HUMAN			10	1797	-			573					Q5T664|Q5T665|Q5T666|Q6AI60|Q6UXB7|Q8TF48|Q8WYV2|Q96K70	Silent	SNP	ENST00000256861.6	37	c.1719C>T																																																																																					0.622	ITIH5-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000046688.1	NM_030569		5	24	0	0	0	1	0	5	24					A	7618675	G	A	7618675	2	1	435	1	0	0	0	0	0	0	0	1	7907	1048	37	2		2	ITIH5	10	7618675	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	10536	7618675	127916072	4578	25503											
ITIH5	80760	broad.mit.edu	37	chr10	7679251	7679251	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cggcagcacctccagggatgCgatgcccgcgctctccagga	7	5	13	16	4	1	0	0	0	1	0	3	3	2	2	4	3	3	3	4	3	0	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:7679251C>T	ENST00000256861.6	-	5	670	c.592G>A	c.(592-594)Gca>Aca	p.A198T	ITIH5_ENST00000446830.2_5'UTR|ITIH5_ENST00000397145.2_Missense_Mutation_p.A198T|ITIH5_ENST00000397146.2_Missense_Mutation_p.A198T|ITIH5_ENST00000434980.1_5'UTR	NM_030569.6	NP_085046.5	Q86UX2	ITIH5_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 5	198					hyaluronan metabolic process (GO:0030212)	extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.A198T(1)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|kidney(6)|large_intestine(21)|lung(25)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(3)	75						TCCAGGGATGCGATGCCCGCG	0.657																																						ENST00000256861.6																			1	Substitution - Missense(1)	p.A198T(1)	large_intestine(1)	NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|kidney(6)|large_intestine(21)|lung(25)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(3)	75						c.(592-594)Gca>Aca		inter-alpha-trypsin inhibitor heavy chain family, member 5							74	75	75					10																	7679251		2203	4300	6503	SO:0001583	missense	80760				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	g.chr10:7679251C>T			10p14	2011-10-26	2011-10-26		ENSG00000123243	ENSG00000123243			21449	protein-coding gene	gene with protein product		609783	"inter-alpha (globulin) inhibitor H5"			14744536	Standard	NM_001001851		Approved	MGC10848	uc021pmv.1	Q86UX2	OTTHUMG00000017635	ENST00000256861.6:c.592G>A	10.37:g.7679251C>T	ENSP00000256861:p.Ala198Thr					ITIH5_ENST00000446830.2_5'UTR|ITIH5_ENST00000397145.2_Missense_Mutation_p.A198T|ITIH5_ENST00000434980.1_5'UTR|ITIH5_ENST00000397146.2_Missense_Mutation_p.A198T	p.A198T	NM_030569.6	NP_085046.5	Q86UX2	ITIH5_HUMAN			5	670	-			198					Q5T664|Q5T665|Q5T666|Q6AI60|Q6UXB7|Q8TF48|Q8WYV2|Q96K70	Missense_Mutation	SNP	ENST00000256861.6	37	c.592G>A		.	.	.	.	.	.	.	.	.	.	C	1.318	-0.600312	0.03744	.	.	ENSG00000123243	ENST00000256861;ENST00000397146;ENST00000397145	T;T;T	0.02323	4.85;4.34;4.34	5.88	-2.99	0.05497	.	1.028080	0.07646	N	0.931097	T	0.01800	0.0057	.	.	.	0.09310	N	1	B;B	0.17852	0.024;0.002	B;B	0.18263	0.021;0.001	T	0.48559	-0.9025	9	0.30078	T	0.28	-5.3303	1.9961	0.03457	0.1975:0.2695:0.0974:0.4357	.	198;198	G5E9D8;Q86UX2	.;ITIH5_HUMAN	T	198	ENSP00000256861:A198T;ENSP00000380333:A198T;ENSP00000380332:A198T	ENSP00000256861:A198T	A	-	1	0	ITIH5	7719257	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-1.144000	0.03197	-0.524000	0.06400	-0.140000	0.14226	GCA		0.657	ITIH5-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000046688.1	NM_030569		18	34	0	0	0	1	0	18	34					T	7679251	C	T	7679251	3	4	435	1	0	0	0	0	1	0	0	0	7907	768	27	1	2413	1	ITIH5	10	7679251	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	60576	7679251	127855496	4579	25504											
KIN	22944	broad.mit.edu	37	chr10	7820854	7820854	+	Frame_Shift_Del	DEL	T	T	-																															ctcttcaataaatttggcagTtttttcttcatcatcaaggt																										TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:7820854delT	ENST00000379562.4	-	5	552	c.505delA	c.(505-507)actfs	p.T169fs	KIN_ENST00000543003.1_Frame_Shift_Del_p.T63fs|KIN_ENST00000535925.1_Frame_Shift_Del_p.T169fs	NM_012311.3	NP_036443.1			Kin17 DNA and RNA binding protein											endometrium(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|pancreas(1)|skin(2)	19						AATTTGGCAGTTTTTTCTTCA	0.458																																						ENST00000379562.3																			0				endometrium(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|pancreas(1)|skin(2)	19						c.(505-507)ctfs		KIN, antigenic determinant of recA protein homolog (mouse)							251	248	249					10																	7820854		2203	4300	6503	SO:0001589	frameshift_variant	22944				DNA recombination|DNA repair|DNA replication|interspecies interaction between organisms|mRNA processing	cytoplasm|nuclear matrix	double-stranded DNA binding|RNA binding|zinc ion binding	g.chr10:7820854delT	AJ005273	CCDS7080.1	10p15-p14	2014-07-15	2014-07-15		ENSG00000151657	ENSG00000151657			6327	protein-coding gene	gene with protein product		601720	"antigenic determinant of recA protein (mouse) homolog", "KIN, antigenic determinant of recA protein homolog (mouse)"			1923796, 24140279	Standard	NM_012311		Approved	KIN17, Rts2	uc001ijt.3	O60870	OTTHUMG00000017634	ENST00000379562.4:c.505delA	10.37:g.7820854delT	ENSP00000368881:p.Thr169fs					KIN_ENST00000535925.1_Frame_Shift_Del_p.T169fs|KIN_ENST00000543003.1_Frame_Shift_Del_p.T63fs	p.T169fs			O60870	KIN17_HUMAN			5	552	-			169						Frame_Shift_Del	DEL	ENST00000379562.4	37	c.505delA	CCDS7080.1																																																																																				0.458	KIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046683.2	NM_012311		74	130						74	130	---	---	---	---	-	7820854	T	-	7820854	7	5	435	1	0	1	0	1	0	0	0	0	8315	1725	60	0	712	0	KIN	10	7820854	Frame_Shift_Del	DEL	T	TCGA-XK-AAIW-01A-11D-A41K-08	141603	7820854	127713893	4580	25505											
ATP5C1	509	broad.mit.edu	37	chr10	7841803	7841803	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gccccccacttttggagatgCgtcagtcattgcccttgaat	7	12	9	13	1	2	2	2	1	0	1	2	3	2	2	4	1	2	0	4	1	1	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:7841803C>T	ENST00000356708.7	+	5	576	c.497C>T	c.(496-498)gCg>gTg	p.A166V	ATP5C1_ENST00000493053.1_3'UTR|ATP5C1_ENST00000335698.4_Missense_Mutation_p.A166V|ATP5C1_ENST00000541227.1_Missense_Mutation_p.A119V	NM_001001973.1	NP_001001973.1	P36542	ATPG_HUMAN	ATP synthase, H+ transporting, mitochondrial F1 complex, gamma polypeptide 1	166					ATP biosynthetic process (GO:0006754)|ATP catabolic process (GO:0006200)|cellular metabolic process (GO:0044237)|mitochondrial ATP synthesis coupled proton transport (GO:0042776)|oxidative phosphorylation (GO:0006119)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial proton-transporting ATP synthase complex (GO:0005753)|mitochondrial proton-transporting ATP synthase complex, catalytic core F(1) (GO:0000275)|mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|proton-transporting ATP synthase activity, rotational mechanism (GO:0046933)|proton-transporting ATPase activity, rotational mechanism (GO:0046961)|transmembrane transporter activity (GO:0022857)			breast(2)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	16						TTTGGAGATGCGTCAGTCATT	0.398																																					Melanoma(143;1012 1820 16249 30920 33158)	ENST00000356708.7																			0				breast(2)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	16						c.(496-498)gCg>gTg		ATP synthase, H+ transporting, mitochondrial F1 complex, gamma polypeptide 1							61	61	61					10																	7841803		2203	4300	6503	SO:0001583	missense	509				oxidative phosphorylation|respiratory electron transport chain	mitochondrial matrix|mitochondrial proton-transporting ATP synthase complex, catalytic core F(1)	hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism	g.chr10:7841803C>T	D16561	CCDS7081.1, CCDS31142.1	10p14	2012-10-12			ENSG00000165629	ENSG00000165629		"Mitochondrial respiratory chain complex / Complex V", "ATPases / F-type"	833	protein-coding gene	gene with protein product		108729		ATP5CL1, ATP5C		8168843, 8227057	Standard	NM_005174		Approved		uc001iju.3	P36542	OTTHUMG00000017639	ENST00000356708.7:c.497C>T	10.37:g.7841803C>T	ENSP00000349142:p.Ala166Val					ATP5C1_ENST00000541227.1_Missense_Mutation_p.A119V|ATP5C1_ENST00000493053.1_3'UTR|ATP5C1_ENST00000335698.4_Missense_Mutation_p.A166V	p.A166V	NM_001001973.1	NP_001001973.1	P36542	ATPG_HUMAN			5	576	+			166					A8KA31|Q5VYP3|Q6I9V2|Q96AS8	Missense_Mutation	SNP	ENST00000356708.7	37	c.497C>T	CCDS31142.1	.	.	.	.	.	.	.	.	.	.	C	29.0	4.971894	0.92919	.	.	ENSG00000165629	ENST00000356708;ENST00000335698;ENST00000541227	.	.	.	5.73	5.73	0.89815	ATPase, F1 complex, gamma subunit domain (1);	0.000000	0.85682	D	0.000000	T	0.63248	0.2495	M	0.64404	1.975	0.80722	D	1	P	0.50369	0.934	P	0.44897	0.463	T	0.67848	-0.5564	9	0.87932	D	0	-12.3949	20.2602	0.98440	0.0:1.0:0.0:0.0	.	166	P36542	ATPG_HUMAN	V	166;166;119	.	ENSP00000338568:A166V	A	+	2	0	ATP5C1	7881809	1.000000	0.71417	0.990000	0.47175	0.982000	0.71751	7.729000	0.84864	2.861000	0.98227	0.655000	0.94253	GCG		0.398	ATP5C1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000046708.1	NM_005174		18	39	0	0	0	1	0	18	39					T	7841803	C	T	7841803	3	4	435	1	0	0	0	0	1	0	0	0	1149	768	27	1	515	1	ATP5C1	10	7841803	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	20949	7841803	127692944	4581	25506											
ATP5C1	509	broad.mit.edu	37	chr10	7844330	7844330	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tactactctctgaaggagtcCaccactagtgagcagagtgc	11	9	10	11	0	1	3	0	2	1	1	3	4	2	4	2	1	4	1	2	1	4	3	rs199995607		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:7844330C>A	ENST00000356708.7	+	7	814	c.735C>A	c.(733-735)tcC>tcA	p.S245S	ATP5C1_ENST00000493053.1_3'UTR|ATP5C1_ENST00000335698.4_Silent_p.S245S|ATP5C1_ENST00000541227.1_Silent_p.S198S	NM_001001973.1	NP_001001973.1	P36542	ATPG_HUMAN	ATP synthase, H+ transporting, mitochondrial F1 complex, gamma polypeptide 1	245					ATP biosynthetic process (GO:0006754)|ATP catabolic process (GO:0006200)|cellular metabolic process (GO:0044237)|mitochondrial ATP synthesis coupled proton transport (GO:0042776)|oxidative phosphorylation (GO:0006119)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial proton-transporting ATP synthase complex (GO:0005753)|mitochondrial proton-transporting ATP synthase complex, catalytic core F(1) (GO:0000275)|mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|proton-transporting ATP synthase activity, rotational mechanism (GO:0046933)|proton-transporting ATPase activity, rotational mechanism (GO:0046961)|transmembrane transporter activity (GO:0022857)			breast(2)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	16						TGAAGGAGTCCACCACTAGTG	0.468																																					Melanoma(143;1012 1820 16249 30920 33158)	ENST00000356708.7																			0				breast(2)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	16						c.(733-735)tcC>tcA		ATP synthase, H+ transporting, mitochondrial F1 complex, gamma polypeptide 1							123	101	109					10																	7844330		2203	4300	6503	SO:0001819	synonymous_variant	509				oxidative phosphorylation|respiratory electron transport chain	mitochondrial matrix|mitochondrial proton-transporting ATP synthase complex, catalytic core F(1)	hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism	g.chr10:7844330C>A	D16561	CCDS7081.1, CCDS31142.1	10p14	2012-10-12			ENSG00000165629	ENSG00000165629		"Mitochondrial respiratory chain complex / Complex V", "ATPases / F-type"	833	protein-coding gene	gene with protein product		108729		ATP5CL1, ATP5C		8168843, 8227057	Standard	NM_005174		Approved		uc001iju.3	P36542	OTTHUMG00000017639	ENST00000356708.7:c.735C>A	10.37:g.7844330C>A						ATP5C1_ENST00000541227.1_Silent_p.S198S|ATP5C1_ENST00000493053.1_3'UTR|ATP5C1_ENST00000335698.4_Silent_p.S245S	p.S245S	NM_001001973.1	NP_001001973.1	P36542	ATPG_HUMAN			7	814	+			245					A8KA31|Q5VYP3|Q6I9V2|Q96AS8	Silent	SNP	ENST00000356708.7	37	c.735C>A	CCDS31142.1																																																																																				0.468	ATP5C1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000046708.1	NM_005174		11	27	1	0	3.86212e-05	1	3.97146e-05	11	27					A	7844330	C	A	7844330	2	1	435	1	0	0	0	0	0	0	0	1	1149	581	21	5		5	ATP5C1	10	7844330	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	2527	7844330	127690417	4582	25507											
TAF3	83860	broad.mit.edu	37	chr10	8006411	8006411	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	caaagaaaagaaatcacctgGacgttccaagagccccaaga	18	4	8	11	1	1	4	1	0	0	4	2	5	2	5	4	1	1	1	4	1	6	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:8006411G>A	ENST00000344293.5	+	3	1144	c.938G>A	c.(937-939)gGa>gAa	p.G313E		NM_031923.3	NP_114129.1	Q5VWG9	TAF3_HUMAN	TAF3 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 140kDa	313					maintenance of protein location in nucleus (GO:0051457)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)	zinc ion binding (GO:0008270)			NS(2)|breast(4)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(3)|prostate(4)|skin(2)	40						AAATCACCTGGACGTTccaag	0.502																																						ENST00000344293.5																			0				NS(2)|breast(4)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(3)|prostate(4)|skin(2)	40						c.(937-939)gGa>gAa		TAF3 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 140kDa							45	46	46					10																	8006411		1878	4091	5969	SO:0001583	missense	83860				maintenance of protein location in nucleus|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	transcription factor TFIID complex	protein binding|zinc ion binding	g.chr10:8006411G>A	AJ292190	CCDS41487.1	10p15.1	2013-01-28	2002-08-29		ENSG00000165632	ENSG00000165632		"Zinc fingers, PHD-type"	17303	protein-coding gene	gene with protein product		606576	"TAF3 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 140 kD"			11438666, 18549481	Standard	NM_031923		Approved	TAF140, TAFII140	uc010qbd.3	Q5VWG9	OTTHUMG00000017643	ENST00000344293.5:c.938G>A	10.37:g.8006411G>A	ENSP00000340271:p.Gly313Glu						p.G313E	NM_031923.3	NP_114129.1	Q5VWG9	TAF3_HUMAN			3	1144	+			313					Q05DA0|Q6GMS5|Q6P6B5|Q86VY6|Q9BQS9|Q9UFI8	Missense_Mutation	SNP	ENST00000344293.5	37	c.938G>A	CCDS41487.1	.	.	.	.	.	.	.	.	.	.	G	19.28	3.796336	0.70567	.	.	ENSG00000165632	ENST00000344293	T	0.21932	1.98	5.56	5.56	0.83823	.	0.000000	0.64402	D	0.000003	T	0.46347	0.1388	M	0.77616	2.38	0.80722	D	1	D	0.89917	1.0	D	0.72075	0.976	T	0.37291	-0.9712	10	0.09338	T	0.73	-26.9594	19.5287	0.95219	0.0:0.0:1.0:0.0	.	313	Q5VWG9	TAF3_HUMAN	E	313	ENSP00000340271:G313E	ENSP00000340271:G313E	G	+	2	0	TAF3	8046417	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.330000	0.79181	2.627000	0.88993	0.655000	0.94253	GGA		0.502	TAF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046725.1	NM_031923		10	13	0	0	0	1	0	10	13					A	8006411	G	A	8006411	3	1	435	1	0	0	0	0	1	0	0	0	15522	1174	41	3	948	3	TAF3	10	8006411	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	162081	8006411	127528336	4583	25508											
CELF2	10659	broad.mit.edu	37	chr10	11207596	11207596	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gagccttacggagccgtctaCcagatcaacgtcctccggga	9	7	11	14	4	2	1	1	0	1	1	4	4	4	3	5	2	5	0	5	2	3	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:11207596C>T	ENST00000379261.4	+	2	293	c.201C>T	c.(199-201)taC>taT	p.Y67Y	CELF2_ENST00000537122.1_5'UTR|CELF2_ENST00000542579.1_Silent_p.Y74Y|CELF2_ENST00000354440.2_Silent_p.Y43Y|CELF2_ENST00000399850.3_Silent_p.Y43Y|CELF2_ENST00000354897.3_Silent_p.Y43Y|CELF2_ENST00000609692.1_Silent_p.Y43Y|CELF2_ENST00000450189.1_Silent_p.Y74Y|CELF2_ENST00000416382.2_Silent_p.Y67Y|CELF2_ENST00000315874.4_Silent_p.Y43Y|CELF2_ENST00000427450.1_Silent_p.Y43Y|CELF2_ENST00000417956.2_Silent_p.Y43Y|CELF2_ENST00000608830.1_Silent_p.Y43Y	NM_001025077.2	NP_001020248.1	O95319	CELF2_HUMAN	CUGBP, Elav-like family member 2	67	Necessary for RNA-binding, TNNT2 exon 5 and NMDA R1 exon 21 inclusion.|RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA processing (GO:0006397)|regulation of heart contraction (GO:0008016)|RNA processing (GO:0006396)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	16						GAGCCGTCTACCAGATCAACG	0.602																																						ENST00000379261.4																			0				breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	16						c.(199-201)taC>taT		CUGBP, Elav-like family member 2							52	55	54					10																	11207596		1927	4143	6070	SO:0001819	synonymous_variant	10659				mRNA processing|regulation of heart contraction	cytoplasm|nucleus	nucleotide binding|protein binding|RNA binding	g.chr10:11207596C>T	U69546	CCDS41488.1, CCDS44354.1, CCDS44355.1, CCDS44356.1	10p13	2013-02-12	2010-02-19	2010-02-19	ENSG00000048740	ENSG00000048740		"RNA binding motif (RRM) containing"	2550	protein-coding gene	gene with protein product		602538	"CUG triplet repeat, RNA-binding protein 2", "CUG triplet repeat, RNA binding protein 2"	CUGBP2		7869393, 9887331	Standard	NM_006561		Approved	Etr-3, NAPOR-2, BRUNOL3	uc001ikl.4	O95319	OTTHUMG00000017668	ENST00000379261.4:c.201C>T	10.37:g.11207596C>T						CELF2_ENST00000416382.2_Silent_p.Y67Y|CELF2_ENST00000354897.3_Silent_p.Y43Y|CELF2_ENST00000450189.1_Silent_p.Y74Y|CELF2_ENST00000315874.3_Silent_p.Y43Y|CELF2_ENST00000399850.3_Silent_p.Y43Y|CELF2_ENST00000542579.1_Silent_p.Y74Y|CELF2_ENST00000537122.1_5'UTR|CELF2_ENST00000354440.2_Silent_p.Y43Y|CELF2_ENST00000427450.1_Silent_p.Y43Y|CELF2_ENST00000417956.2_Silent_p.Y43Y	p.Y67Y	NM_001025077.2	NP_001020248.1	O95319	CELF2_HUMAN			2	293	+			67			Necessary for RNA-binding, TNNT2 exon 5 and NMDA R1 exon 21 inclusion.|RRM 1.		B7ZAN9|Q7KYU4|Q8N499|Q92950|Q96NW9|Q96RQ5|Q96RQ6|Q9UL67	Silent	SNP	ENST00000379261.4	37	c.201C>T	CCDS44354.1																																																																																				0.602	CELF2-201	KNOWN	basic|CCDS	protein_coding	protein_coding				7	12	0	0	0	1	0	7	12					T	11207596	C	T	11207596	2	4	435	1	0	0	0	0	0	0	0	1	3216	518	18	3		3	CELF2	10	11207596	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	3201185	11207596	124327151	4584	25509											
USP6NL	9712	broad.mit.edu	37	chr10	11505719	11505719	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtggggcgccccgctctccCtcctgccgctggccagcggg	1	7	15	18	4	1	0	0	0	1	0	3	0	2	0	6	4	2	2	6	4	0	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:11505719C>T	ENST00000609104.1	-	15	1602	c.1208G>A	c.(1207-1209)aGg>aAg	p.R403K	USP6NL_ENST00000379237.2_Missense_Mutation_p.R426K|USP6NL_ENST00000277575.5_Missense_Mutation_p.R420K	NM_014688.2	NP_055503.1	Q92738	US6NL_HUMAN	USP6 N-terminal like	403					Golgi organization (GO:0007030)|plasma membrane to endosome transport (GO:0048227)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of Rab GTPase activity (GO:0032851)|regulation of Golgi organization (GO:1903358)|retrograde transport, plasma membrane to Golgi (GO:0035526)|virion assembly (GO:0019068)	cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	Rab GTPase activator activity (GO:0005097)|Rab GTPase binding (GO:0017137)			endometrium(3)|kidney(2)|large_intestine(6)|lung(18)|prostate(1)|skin(1)|urinary_tract(1)	32						CCCGCTCTCCCTCCTGCCGCT	0.692																																						ENST00000379237.1																			0				endometrium(3)|kidney(2)|large_intestine(6)|lung(18)|prostate(1)|skin(1)|urinary_tract(1)	32						c.(1207-1209)aGg>aAg		USP6 N-terminal like							19	23	22					10																	11505719		1917	4108	6025	SO:0001583	missense	9712					intracellular	Rab GTPase activator activity	g.chr10:11505719C>T	BC010351	CCDS44357.1, CCDS53492.1	10p13	2013-07-09			ENSG00000148429	ENSG00000148429			16858	protein-coding gene	gene with protein product	"related to the N terminus of tre"	605405	"USP6NL intronic transcript 1 (non-protein coding)"	USP6NL-IT1		8700515, 8700527, 12399475	Standard	XR_247492		Approved	RNTRE, KIAA0019, TRE2NL, RN-tre	uc001iks.1	Q92738	OTTHUMG00000017672	ENST00000609104.1:c.1208G>A	10.37:g.11505719C>T	ENSP00000476462:p.Arg403Lys					USP6NL_ENST00000277575.5_Missense_Mutation_p.R420K	p.R403K	NM_014688.2	NP_055503.1	Q92738	US6NL_HUMAN			15	1602	-			403					A8KA79|Q15400|Q5VV10|Q7L0K9	Missense_Mutation	SNP	ENST00000609104.1	37	c.1208G>A	CCDS53492.1	.	.	.	.	.	.	.	.	.	.	C	7.540	0.660467	0.14645	.	.	ENSG00000148429	ENST00000535316;ENST00000277575;ENST00000379237	T;T	0.03889	3.77;3.78	5.68	1.53	0.23141	.	0.299240	0.36591	N	0.002514	T	0.03739	0.0106	L	0.47716	1.5	0.09310	N	1	B;B	0.13145	0.004;0.007	B;B	0.15052	0.003;0.012	T	0.42481	-0.9449	10	0.18276	T	0.48	.	2.4703	0.04562	0.2205:0.4732:0.154:0.1523	.	403;420	Q92738;Q92738-2	US6NL_HUMAN;.	K	403;420;403	ENSP00000277575:R420K;ENSP00000368539:R403K	ENSP00000277575:R420K	R	-	2	0	USP6NL	11545725	0.980000	0.34600	0.001000	0.08648	0.000000	0.00434	0.361000	0.20267	0.431000	0.26258	-1.083000	0.02208	AGG		0.692	USP6NL-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000046764.3	NM_014688		4	11	0	0	0	1	0	4	11					T	11505719	C	T	11505719	3	4	435	1	0	0	0	0	1	0	0	0	17084	681	24	3	1282	3	USP6NL	10	11505719	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	298123	11505719	124029028	4585	25510											
UPF2	26019	broad.mit.edu	37	chr10	12001315	12001315	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctaccattgtgacgtatctcGcatcaagatgcattgcttgc	9	13	8	11	2	2	2	1	1	1	1	3	2	2	2	1	0	4	4	1	0	3	5	rs570251555		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:12001315G>A	ENST00000356352.2	-	11	2698	c.2225C>T	c.(2224-2226)gCg>gTg	p.A742V	UPF2_ENST00000397053.2_Missense_Mutation_p.A742V|UPF2_ENST00000357604.5_Missense_Mutation_p.A742V			Q9HAU5	RENT2_HUMAN	UPF2 regulator of nonsense transcripts homolog (yeast)	742	MIF4G 2.|Sufficient for interaction with UPF3A and UPF3B.				gene expression (GO:0010467)|liver development (GO:0001889)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|organ regeneration (GO:0031100)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|exon-exon junction complex (GO:0035145)|nucleus (GO:0005634)	RNA binding (GO:0003723)			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(14)|lung(17)|ovary(2)|skin(3)|urinary_tract(2)	56		Renal(717;0.228)				GACGTATCTCGCATCAAGATG	0.393																																						ENST00000356352.2																			0				breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(14)|lung(17)|ovary(2)|skin(3)|urinary_tract(2)	56						c.(2224-2226)gCg>gTg		UPF2 regulator of nonsense transcripts homolog (yeast)							205	161	176					10																	12001315		2203	4300	6503	SO:0001583	missense	26019				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	exon-exon junction complex|perinuclear region of cytoplasm	identical protein binding|RNA binding	g.chr10:12001315G>A	AB037829	CCDS7086.1	10p14-p13	2011-06-21			ENSG00000151461	ENSG00000151461			17854	protein-coding gene	gene with protein product	"smg-3 homolog, nonsense mediated mRNA decay factor (C. elegans)"	605529				11073994, 11113196	Standard	NM_080599		Approved	RENT2, DKFZP434D222, KIAA1408, smg-3	uc001ilb.3	Q9HAU5	OTTHUMG00000017678	ENST00000356352.2:c.2225C>T	10.37:g.12001315G>A	ENSP00000348708:p.Ala742Val					UPF2_ENST00000357604.5_Missense_Mutation_p.A742V|UPF2_ENST00000397053.2_Missense_Mutation_p.A742V	p.A742V			Q9HAU5	RENT2_HUMAN			11	2698	-		Renal(717;0.228)	742			MIF4G 2.|Sufficient for interaction with UPF3A and UPF3B.		A6NLJ5|D3DRS0|Q14BM1|Q5W0J4|Q8N8U1|Q9H1J2|Q9NWL1|Q9P2D9|Q9Y4M9	Missense_Mutation	SNP	ENST00000356352.2	37	c.2225C>T	CCDS7086.1	.	.	.	.	.	.	.	.	.	.	G	17.81	3.481077	0.63849	.	.	ENSG00000151461	ENST00000356352;ENST00000357604;ENST00000397053	T;T;T	0.23348	1.91;1.91;1.91	5.12	5.12	0.69794	MIF4G-like, type 3 (2);Armadillo-type fold (1);MIF4-like, type 1/2/3 (1);	0.000000	0.85682	D	0.000000	T	0.20292	0.0488	L	0.31578	0.945	0.54753	D	0.999985	P	0.42456	0.78	B	0.36666	0.23	T	0.02603	-1.1135	10	0.27082	T	0.32	.	18.5419	0.91031	0.0:0.0:1.0:0.0	.	742	Q9HAU5	RENT2_HUMAN	V	742	ENSP00000348708:A742V;ENSP00000350221:A742V;ENSP00000380244:A742V	ENSP00000348708:A742V	A	-	2	0	UPF2	12041321	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	7.568000	0.82369	2.391000	0.81399	0.585000	0.79938	GCG		0.393	UPF2-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046783.1			31	56	0	0	0	1	0	31	56					A	12001315	G	A	12001315	3	1	435	1	0	0	0	0	1	0	0	0	17001	1087	38	1	1637	1	UPF2	10	12001315	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	495596	12001315	123533432	4586	25511											
UPF2	26019	broad.mit.edu	37	chr10	12077380	12077381	+	Frame_Shift_Ins	INS	-	-	T																															ttgttgtttggtaaagagtcINStttttcttccatacttgctg																										TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:12077380_12077381insT	ENST00000356352.2	-	1	515_516	c.42_43insA	c.(40-45)aaagacfs	p.D15fs	UPF2_ENST00000397053.2_Frame_Shift_Ins_p.D15fs|UPF2_ENST00000357604.5_Frame_Shift_Ins_p.D15fs|UPF2_ENST00000460569.1_5'UTR			Q9HAU5	RENT2_HUMAN	UPF2 regulator of nonsense transcripts homolog (yeast)	15	Glu/Lys-rich.				gene expression (GO:0010467)|liver development (GO:0001889)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|organ regeneration (GO:0031100)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|exon-exon junction complex (GO:0035145)|nucleus (GO:0005634)	RNA binding (GO:0003723)	p.D15Y(1)		breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(14)|lung(17)|ovary(2)|skin(3)|urinary_tract(2)	56		Renal(717;0.228)				GGTAAAGAGTCTTTTTCTTCCA	0.455																																						ENST00000356352.2																			1	Substitution - Missense(1)	p.D15Y(1)	large_intestine(1)	breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(14)|lung(17)|ovary(2)|skin(3)|urinary_tract(2)	56						c.(40-45)aaactcfs		UPF2 regulator of nonsense transcripts homolog (yeast)																																				SO:0001589	frameshift_variant	26019				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	exon-exon junction complex|perinuclear region of cytoplasm	identical protein binding|RNA binding	g.chr10:12077380_12077381insT	AB037829	CCDS7086.1	10p14-p13	2011-06-21			ENSG00000151461	ENSG00000151461			17854	protein-coding gene	gene with protein product	"smg-3 homolog, nonsense mediated mRNA decay factor (C. elegans)"	605529				11073994, 11113196	Standard	NM_080599		Approved	RENT2, DKFZP434D222, KIAA1408, smg-3	uc001ilb.3	Q9HAU5	OTTHUMG00000017678	ENST00000356352.2:c.43dupA	10.37:g.12077385_12077385dupT	ENSP00000348708:p.Asp15fs					UPF2_ENST00000397053.2_Frame_Shift_Ins_p.L15fs|UPF2_ENST00000460569.1_5'UTR|UPF2_ENST00000357604.5_Frame_Shift_Ins_p.L15fs	p.L15fs			Q9HAU5	RENT2_HUMAN			1	515_516	-		Renal(717;0.228)	15			Glu/Lys-rich.		A6NLJ5|D3DRS0|Q14BM1|Q5W0J4|Q8N8U1|Q9H1J2|Q9NWL1|Q9P2D9|Q9Y4M9	Frame_Shift_Ins	INS	ENST00000356352.2	37	c.42_43insA	CCDS7086.1																																																																																				0.455	UPF2-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046783.1			34	80						34	80	---	---	---	---	T	12077381	-	T	12077380	7	5	435	1	0	1	1	0	0	0	0	0	17001	913	32	0	3859	0	UPF2	10	12077380	Frame_Shift_Ins	INS	-	TCGA-XK-AAIW-01A-11D-A41K-08	76065	12077380	123457367	4587	25512											
DHTKD1	55526	broad.mit.edu	37	chr10	12139743	12139743	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	attgctggcggactcatgacGcaggaggaggtgtctgaaat	10	9	15	7	2	2	2	1	2	1	0	2	5	2	5	0	5	1	2	0	5	1	1	rs370218003		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:12139743G>A	ENST00000263035.4	+	8	1481	c.1419G>A	c.(1417-1419)acG>acA	p.T473T	DHTKD1_ENST00000465617.1_3'UTR	NM_018706.5	NP_061176	Q96HY7	DHTK1_HUMAN	dehydrogenase E1 and transketolase domain containing 1	473					cell death (GO:0008219)|generation of precursor metabolites and energy (GO:0006091)|glycolytic process (GO:0006096)|hematopoietic progenitor cell differentiation (GO:0002244)|tricarboxylic acid cycle (GO:0006099)	mitochondrion (GO:0005739)	oxoglutarate dehydrogenase (succinyl-transferring) activity (GO:0004591)|thiamine pyrophosphate binding (GO:0030976)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(1)	44		Renal(717;0.228)	BRCA - Breast invasive adenocarcinoma(52;0.188)			GACTCATGACGCAGGAGGAGG	0.488																																						ENST00000263035.4																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(1)	44						c.(1417-1419)acG>acA		dehydrogenase E1 and transketolase domain containing 1		G		0,4406		0,0,2203	64	59	61		1419	0	1	10		61	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	DHTKD1	NM_018706.5		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		473/920	12139743	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	55526				glycolysis	mitochondrion	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding	g.chr10:12139743G>A	BC002477	CCDS7087.1	10p14	2003-11-24			ENSG00000181192	ENSG00000181192			23537	protein-coding gene	gene with protein product		614984				10997877	Standard	NM_018706		Approved	KIAA1630, MGC3090, DKFZP762M115	uc001ild.5	Q96HY7	OTTHUMG00000017677	ENST00000263035.4:c.1419G>A	10.37:g.12139743G>A						DHTKD1_ENST00000465617.1_3'UTR	p.T473T	NM_018706.5	NP_061176.3	Q96HY7	DHTK1_HUMAN	BRCA - Breast invasive adenocarcinoma(52;0.188)		8	1481	+		Renal(717;0.228)	473					Q68CU5|Q9BUM8|Q9HCE2	Silent	SNP	ENST00000263035.4	37	c.1419G>A	CCDS7087.1	.	.	.	.	.	.	.	.	.	.	G	3.163	-0.171759	0.06421	0.0	1.16E-4	ENSG00000181192	ENST00000448829	.	.	.	5.34	0.0383	0.14199	.	.	.	.	.	T	0.42245	0.1194	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.20806	-1.0264	4	.	.	.	-13.2177	2.02	0.03506	0.32:0.2162:0.3239:0.1399	.	.	.	.	T	25	.	.	A	+	1	0	DHTKD1	12179749	0.033000	0.19621	0.992000	0.48379	0.374000	0.29953	-0.906000	0.04071	-0.264000	0.09365	-1.509000	0.00949	GCA		0.488	DHTKD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046777.1	NM_018706		22	32	0	0	0	1	0	22	32					A	12139743	G	A	12139743	2	1	435	1	0	0	0	0	0	0	0	1	4500	1074	38	1		1	DHTKD1	10	12139743	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	62363	12139743	123395004	4588	25513											
CAMK1D	57118	broad.mit.edu	37	chr10	12708804	12708804	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aatcacctgtacttggtcatGcagctgtaagtaccttgttt	9	15	8	9	0	2	0	2	0	0	0	2	0	2	0	2	1	4	6	2	1	4	6			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:12708804G>A	ENST00000378847.3	+	3	631	c.294G>A	c.(292-294)atG>atA	p.M98I	CAMK1D_ENST00000378845.1_Missense_Mutation_p.M98I|CAMK1D_ENST00000487696.1_3'UTR	NM_153498.2	NP_705718.1	Q8IU85	KCC1D_HUMAN	calcium/calmodulin-dependent protein kinase ID	98	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				inflammatory response (GO:0006954)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of neuron projection development (GO:0010976)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of phagocytosis (GO:0050766)|positive regulation of respiratory burst (GO:0060267)|regulation of dendrite development (GO:0050773)|regulation of granulocyte chemotaxis (GO:0071622)	calcium- and calmodulin-dependent protein kinase complex (GO:0005954)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)			endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|stomach(1)	16				GBM - Glioblastoma multiforme(1;3.16e-05)		ACTTGGTCATGCAGCTGTAAG	0.388																																						ENST00000378847.3																			0				endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|stomach(1)	16						c.(292-294)atG>atA		calcium/calmodulin-dependent protein kinase ID							149	139	142					10																	12708804		2203	4300	6503	SO:0001583	missense	57118					calcium- and calmodulin-dependent protein kinase complex|cytoplasm|nucleus	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity	g.chr10:12708804G>A	AF286366	CCDS7091.1, CCDS7092.1	10p13	2003-11-05			ENSG00000183049	ENSG00000183049			19341	protein-coding gene	gene with protein product		607957				11050006	Standard	XM_006717481		Approved	CKLiK	uc001ilo.3	Q8IU85	OTTHUMG00000017683	ENST00000378847.3:c.294G>A	10.37:g.12708804G>A	ENSP00000368124:p.Met98Ile					CAMK1D_ENST00000487696.1_3'UTR|CAMK1D_ENST00000378845.1_Missense_Mutation_p.M98I	p.M98I	NM_153498.2	NP_705718.1	Q8IU85	KCC1D_HUMAN		GBM - Glioblastoma multiforme(1;3.16e-05)	3	631	+			98			Protein kinase.		B0YIY0|Q9HD31	Missense_Mutation	SNP	ENST00000378847.3	37	c.294G>A	CCDS7091.1	.	.	.	.	.	.	.	.	.	.	G	20.5	3.998160	0.74818	.	.	ENSG00000183049	ENST00000378847;ENST00000378845	T;T	0.49139	0.79;0.79	5.51	5.51	0.81932	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.211695	0.56097	N	0.000038	T	0.68238	0.2979	M	0.81942	2.565	0.80722	D	1	B;P	0.39601	0.447;0.68	B;P	0.54856	0.349;0.762	T	0.70510	-0.4852	10	0.66056	D	0.02	-13.7408	16.9448	0.86228	0.0:0.0:1.0:0.0	.	98;98	Q8IU85;Q5SQQ7	KCC1D_HUMAN;.	I	98	ENSP00000368124:M98I;ENSP00000368122:M98I	ENSP00000368122:M98I	M	+	3	0	CAMK1D	12748810	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	8.674000	0.91191	2.593000	0.87608	0.655000	0.94253	ATG		0.388	CAMK1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046820.1	NM_020397		4	93	0	0	0	1	0	4	93					A	12708804	G	A	12708804	3	1	435	1	0	0	0	0	1	0	0	0	2597	1319	46	3	304	3	CAMK1D	10	12708804	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	569061	12708804	122825943	4589	25514											
CCDC3	83643	broad.mit.edu	37	chr10	12940631	12940631	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttctgctgcagtttcttgaCgtggtcctcctcctcaaaca	6	15	7	13	1	3	1	1	1	2	0	6	1	6	1	3	1	3	3	3	1	1	3	rs145872952		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:12940631C>T	ENST00000378825.3	-	3	724	c.598G>A	c.(598-600)Gtc>Atc	p.V200I	CCDC3_ENST00000378839.1_Missense_Mutation_p.V75I	NM_031455.3	NP_113643.1	Q9BQI4	CCDC3_HUMAN	coiled-coil domain containing 3	200						endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)|prostate(2)	11		Ovarian(717;0.0822)	BRCA - Breast invasive adenocarcinoma(52;0.163)			AGTTTCTTGACGTGGTCCTCC	0.602													C|||	1	0.000199681	0	0	5008	,	,		16856	0		0.001	False		,,,				2504	0					ENST00000378839.1																			0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)|prostate(2)	11						c.(223-225)Gtc>Atc		coiled-coil domain containing 3		C	ILE/VAL	0,4406		0,0,2203	72	62	65		598	5.4	1	10	dbSNP_134	65	4,8596	3.7+/-12.6	0,4,4296	yes	missense	CCDC3	NM_031455.3	29	0,4,6499	TT,TC,CC		0.0465,0.0,0.0308	benign	200/271	12940631	4,13002	2203	4300	6503	SO:0001583	missense	83643					endoplasmic reticulum|extracellular region		g.chr10:12940631C>T	BC051334	CCDS7093.1, CCDS60484.1	10p14	2004-02-13			ENSG00000151468	ENSG00000151468			23813	protein-coding gene	gene with protein product							Standard	NM_031455		Approved	DKFZp761F241	uc001ilq.1	Q9BQI4	OTTHUMG00000017689	ENST00000378825.3:c.598G>A	10.37:g.12940631C>T	ENSP00000368102:p.Val200Ile					CCDC3_ENST00000378825.3_Missense_Mutation_p.V200I	p.V75I			Q9BQI4	CCDC3_HUMAN	BRCA - Breast invasive adenocarcinoma(52;0.163)		7	1175	-		Ovarian(717;0.0822)	200					Q5VYV8|Q5VYV9	Missense_Mutation	SNP	ENST00000378825.3	37	c.223G>A	CCDS7093.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	23.8	4.455433	0.84209	0.0	4.65E-4	ENSG00000151468	ENST00000378839;ENST00000378825	T	0.17691	2.26	5.42	5.42	0.78866	.	0.330512	0.26106	N	0.026308	T	0.18257	0.0438	M	0.64997	1.995	0.40106	D	0.976437	P	0.44946	0.846	B	0.30251	0.113	T	0.10245	-1.0638	10	0.56958	D	0.05	-25.0542	18.1996	0.89833	0.0:1.0:0.0:0.0	.	200	Q9BQI4	CCDC3_HUMAN	I	75;200	ENSP00000368116:V75I	ENSP00000368102:V200I	V	-	1	0	CCDC3	12980637	0.999000	0.42202	0.998000	0.56505	0.880000	0.50808	4.526000	0.60566	2.550000	0.86006	0.561000	0.74099	GTC		0.602	CCDC3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046829.1	NM_031455		18	42	0	0	0	1	0	18	42					T	12940631	C	T	12940631	3	4	435	1	0	0	0	0	1	0	0	0	2804	536	19	1	218	1	CCDC3	10	12940631	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	231827	12940631	122594116	4590	25515											
BEND7	222389	broad.mit.edu	37	chr10	13523090	13523090	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccagctgagatttaggcataAacacgtcaaagccttcagca	14	8	8	11	1	2	1	2	1	0	1	2	2	2	1	2	1	4	3	2	1	4	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:13523090A>C	ENST00000396900.2	-	6	871	c.872T>G	c.(871-873)tTt>tGt	p.F291C	BEND7_ENST00000396898.2_Missense_Mutation_p.F304C|BEND7_ENST00000378605.3_Missense_Mutation_p.F252C|BEND7_ENST00000341083.3_Missense_Mutation_p.F239C			Q8N7W2	BEND7_HUMAN	BEN domain containing 7	291	BEN. {ECO:0000255|PROSITE- ProRule:PRU00784}.					extracellular vesicular exosome (GO:0070062)				breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(2)|ovary(2)|prostate(1)|stomach(1)	17						TTTAGGCATAAACACGTCAAA	0.398																																						ENST00000341083.3																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(2)|ovary(2)|prostate(1)|stomach(1)	17						c.(715-717)tTt>tGt		BEN domain containing 7							113	108	109					10																	13523090		2203	4300	6503	SO:0001583	missense	222389						protein binding	g.chr10:13523090A>C	BC031618	CCDS7099.1, CCDS41490.1	10p14	2012-11-22	2008-10-03	2008-10-03	ENSG00000165626	ENSG00000165626		"BEN domain containing"	23514	protein-coding gene	gene with protein product			"chromosome 10 open reading frame 30"	C10orf30			Standard	NM_152751		Approved	FLJ40283	uc001imm.2	Q8N7W2	OTTHUMG00000017699	ENST00000396900.2:c.872T>G	10.37:g.13523090A>C	ENSP00000380108:p.Phe291Cys					BEND7_ENST00000378605.3_Missense_Mutation_p.F252C|BEND7_ENST00000396900.2_Missense_Mutation_p.F291C|BEND7_ENST00000396898.2_Missense_Mutation_p.F304C	p.F239C	NM_152751.2	NP_689964.2	Q8N7W2	BEND7_HUMAN			6	1012	-			291					Q5SYY7|Q5SYY8|Q5SYY9|Q8N5T7	Missense_Mutation	SNP	ENST00000396900.2	37	c.716T>G		.	.	.	.	.	.	.	.	.	.	A	18.04	3.533843	0.64972	.	.	ENSG00000165626	ENST00000396900;ENST00000341083;ENST00000396898;ENST00000378605	T;T;T;T	0.61627	0.09;0.1;0.15;0.2	5.97	4.84	0.62591	.	0.088379	0.85682	D	0.000000	T	0.56702	0.2003	N	0.08118	0	0.49687	D	0.999817	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.997	T	0.64711	-0.6343	10	0.87932	D	0	-10.7893	11.784	0.52032	0.9319:0.0:0.0681:0.0	.	304;239	E5RFC0;Q8N7W2-3	.;.	C	291;239;304;252	ENSP00000380108:F291C;ENSP00000345773:F239C;ENSP00000380107:F304C;ENSP00000367868:F252C	ENSP00000345773:F239C	F	-	2	0	BEND7	13563096	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.026000	0.64103	1.091000	0.41335	0.533000	0.62120	TTT		0.398	BEND7-202	KNOWN	basic	protein_coding	protein_coding		NM_152751		17	60	0	0	0	1	0	17	60					C	13523090	A	C	13523090	3	2	435	1	0	0	0	0	1	0	0	0	1403	14	1	5	718	5	BEND7	10	13523090	Missense_Mutation	SNP	A	TCGA-XK-AAIW-01A-11D-A41K-08	582459	13523090	122011657	4591	25516											
FRMD4A	55691	broad.mit.edu	37	chr10	13743457	13743457	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcaatgccgctgtgcccaaaCgtcctccttgtcactgaagc	8	9	9	15	2	1	1	1	1	0	0	3	1	3	1	4	0	4	2	4	0	3	1	rs150190257	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:13743457C>T	ENST00000357447.2	-	14	1226	c.858G>A	c.(856-858)acG>acA	p.T286T	FRMD4A_ENST00000342409.2_Silent_p.T302T|FRMD4A_ENST00000492155.1_5'UTR|FRMD4A_ENST00000378503.1_Silent_p.T286T|FRMD4A_ENST00000358621.4_Silent_p.T271T	NM_018027.3	NP_060497.3	Q9P2Q2	FRM4A_HUMAN	FERM domain containing 4A	286	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				establishment of epithelial cell polarity (GO:0090162)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|tight junction (GO:0005923)				breast(4)|endometrium(9)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	41						TGTGCCCAAACGTCCTCCTTG	0.498																																						ENST00000357447.2																			0				breast(4)|endometrium(9)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	41						c.(856-858)acG>acA		FERM domain containing 4A		C		1,4405	2.1+/-5.4	0,1,2202	175	152	160		858	-8.7	0.5	10	dbSNP_134	160	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	FRMD4A	NM_018027.3		0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154		286/1040	13743457	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	55691					cytoplasm|cytoskeleton	binding	g.chr10:13743457C>T	AB037715	CCDS7101.1	10p14	2004-07-15	2004-07-15	2004-07-15	ENSG00000151474	ENSG00000151474			25491	protein-coding gene	gene with protein product			"FERM domain containing 4"	FRMD4		10718198	Standard	NM_018027		Approved	FLJ10210, KIAA1294, bA295P9.4	uc001ims.3	Q9P2Q2	OTTHUMG00000017708	ENST00000357447.2:c.858G>A	10.37:g.13743457C>T						FRMD4A_ENST00000358621.4_Silent_p.T271T|FRMD4A_ENST00000342409.2_Silent_p.T302T|FRMD4A_ENST00000378503.1_Silent_p.T286T|FRMD4A_ENST00000492155.1_5'UTR	p.T286T	NM_018027.3	NP_060497.3	Q9P2Q2	FRM4A_HUMAN			14	1226	-			286			FERM.		A7E2Y3|Q5T377	Silent	SNP	ENST00000357447.2	37	c.858G>A	CCDS7101.1																																																																																				0.498	FRMD4A-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000046889.1	NM_018027		21	39	0	0	0	1	0	21	39					T	13743457	C	T	13743457	2	4	435	1	0	0	0	0	0	0	0	1	6051	523	19	1		1	FRMD4A	10	13743457	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	220367	13743457	121791290	4592	25517											
FRMD4A	55691	broad.mit.edu	37	chr10	13838573	13838573	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	actcttcgatctagctgaagCcagtttaagtgtcccctgaa	10	12	8	11	1	2	2	0	2	2	0	4	3	3	2	3	0	2	2	3	0	4	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:13838573C>A	ENST00000357447.2	-	5	590	c.222G>T	c.(220-222)tgG>tgT	p.W74C	FRMD4A_ENST00000342409.2_Missense_Mutation_p.W90C|FRMD4A_ENST00000378503.1_Missense_Mutation_p.W74C|FRMD4A_ENST00000358621.4_Missense_Mutation_p.W59C	NM_018027.3	NP_060497.3	Q9P2Q2	FRM4A_HUMAN	FERM domain containing 4A	74	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				establishment of epithelial cell polarity (GO:0090162)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|tight junction (GO:0005923)				breast(4)|endometrium(9)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	41						CTAGCTGAAGCCAGTTTAAGT	0.403																																						ENST00000357447.2																			0				breast(4)|endometrium(9)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	41						c.(220-222)tgG>tgT		FERM domain containing 4A							124	122	123					10																	13838573		2203	4300	6503	SO:0001583	missense	55691					cytoplasm|cytoskeleton	binding	g.chr10:13838573C>A	AB037715	CCDS7101.1	10p14	2004-07-15	2004-07-15	2004-07-15	ENSG00000151474	ENSG00000151474			25491	protein-coding gene	gene with protein product			"FERM domain containing 4"	FRMD4		10718198	Standard	NM_018027		Approved	FLJ10210, KIAA1294, bA295P9.4	uc001ims.3	Q9P2Q2	OTTHUMG00000017708	ENST00000357447.2:c.222G>T	10.37:g.13838573C>A	ENSP00000350032:p.Trp74Cys					FRMD4A_ENST00000358621.4_Missense_Mutation_p.W59C|FRMD4A_ENST00000342409.2_Missense_Mutation_p.W90C|FRMD4A_ENST00000378503.1_Missense_Mutation_p.W74C	p.W74C	NM_018027.3	NP_060497.3	Q9P2Q2	FRM4A_HUMAN			5	590	-			74			FERM.		A7E2Y3|Q5T377	Missense_Mutation	SNP	ENST00000357447.2	37	c.222G>T	CCDS7101.1	.	.	.	.	.	.	.	.	.	.	C	18.65	3.669555	0.67814	.	.	ENSG00000151474	ENST00000358621;ENST00000357447;ENST00000378503;ENST00000264546;ENST00000342409	D;D;D;D;D	0.89270	-2.49;-2.49;-2.49;-2.49;-2.49	4.87	4.87	0.63330	FERM, N-terminal (1);Band 4.1 domain (1);FERM domain (1);FERM conserved site (1);	0.000000	0.85682	D	0.000000	D	0.96470	0.8848	H	0.97732	4.065	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.97852	1.0275	10	0.87932	D	0	-10.778	14.9407	0.70992	0.0:1.0:0.0:0.0	.	90;107;74	Q5T378;Q5T376;Q9P2Q2	.;.;FRM4A_HUMAN	C	59;74;74;107;90	ENSP00000351438:W59C;ENSP00000350032:W74C;ENSP00000367764:W74C;ENSP00000264546:W107C;ENSP00000344237:W90C	ENSP00000264546:W107C	W	-	3	0	FRMD4A	13878579	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	6.725000	0.74752	2.244000	0.73946	0.462000	0.41574	TGG		0.403	FRMD4A-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000046889.1	NM_018027		14	71	1	0	1.05317e-09	1	1.12079e-09	14	71					A	13838573	C	A	13838573	3	1	435	1	0	0	0	0	1	0	0	0	6051	740	26	5	2977	5	FRMD4A	10	13838573	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	95116	13838573	121696174	4593	25518											
FAM171A1	221061	broad.mit.edu	37	chr10	15255001	15255001	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttggtcatcatcatcatcGtcttcctcttcctcgtgggc	4	15	7	15	2	6	0	4	0	2	0	10	0	8	0	3	2	0	0	3	2	0	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:15255001G>A	ENST00000378116.4	-	8	2592	c.2586C>T	c.(2584-2586)gaC>gaT	p.D862D	FAM171A1_ENST00000477161.1_5'Flank	NM_001010924.1	NP_001010924.1	Q5VUB5	F1711_HUMAN	family with sequence similarity 171, member A1	862						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(6)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	52						CATCATCATCGTCTTCCTCTT	0.582																																						ENST00000378116.4																			0				breast(6)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	52						c.(2584-2586)gaC>gaT		family with sequence similarity 171, member A1							154	153	153					10																	15255001		2203	4300	6503	SO:0001819	synonymous_variant	221061					integral to membrane		g.chr10:15255001G>A	AK022946	CCDS31154.1	10p13	2008-06-16	2008-06-16	2008-06-16	ENSG00000148468	ENSG00000148468			23522	protein-coding gene	gene with protein product			"chromosome 10 open reading frame 38"	C10orf38			Standard	NM_001010924		Approved	FLJ12884	uc001iob.3	Q5VUB5	OTTHUMG00000017732	ENST00000378116.4:c.2586C>T	10.37:g.15255001G>A							p.D862D	NM_001010924.1	NP_001010924.1	Q5VUB5	F1711_HUMAN			8	2592	-			862					D3DRT9|Q32M49|Q8N4I0	Silent	SNP	ENST00000378116.4	37	c.2586C>T	CCDS31154.1																																																																																				0.582	FAM171A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046984.1	XM_167709		29	81	0	0	0	1	0	29	81					A	15255001	G	A	15255001	2	1	435	1	0	0	0	0	0	0	0	1	5490	1136	40	1		1	FAM171A1	10	15255001	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	1416428	15255001	120279746	4594	25519											
FAM171A1	221061	broad.mit.edu	37	chr10	15256021	15256021	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctttctcaggtgatgaaggCgcggggtacagatgttcctg	7	12	14	8	2	2	3	1	2	2	1	4	3	3	3	1	4	1	2	1	4	2	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:15256021C>T	ENST00000378116.4	-	8	1572	c.1566G>A	c.(1564-1566)gcG>gcA	p.A522A	FAM171A1_ENST00000477161.1_5'Flank	NM_001010924.1	NP_001010924.1	Q5VUB5	F1711_HUMAN	family with sequence similarity 171, member A1	522						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(6)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	52						GTGATGAAGGCGCGGGGTACA	0.527																																						ENST00000378116.4																			0				breast(6)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	52						c.(1564-1566)gcG>gcA		family with sequence similarity 171, member A1							159	150	153					10																	15256021		2203	4300	6503	SO:0001819	synonymous_variant	221061					integral to membrane		g.chr10:15256021C>T	AK022946	CCDS31154.1	10p13	2008-06-16	2008-06-16	2008-06-16	ENSG00000148468	ENSG00000148468			23522	protein-coding gene	gene with protein product			"chromosome 10 open reading frame 38"	C10orf38			Standard	NM_001010924		Approved	FLJ12884	uc001iob.3	Q5VUB5	OTTHUMG00000017732	ENST00000378116.4:c.1566G>A	10.37:g.15256021C>T							p.A522A	NM_001010924.1	NP_001010924.1	Q5VUB5	F1711_HUMAN			8	1572	-			522					D3DRT9|Q32M49|Q8N4I0	Silent	SNP	ENST00000378116.4	37	c.1566G>A	CCDS31154.1	.	.	.	.	.	.	.	.	.	.	C	0.006	-2.076595	0.00375	.	.	ENSG00000148468	ENST00000396781	.	.	.	5.25	-1.3	0.09259	.	.	.	.	.	T	0.50069	0.1594	.	.	.	0.33999	D	0.650047	.	.	.	.	.	.	T	0.57802	-0.7748	5	0.41790	T	0.15	-1.9709	8.3372	0.32221	0.0:0.4065:0.1062:0.4873	.	.	.	.	H	522	.	ENSP00000380001:R522H	R	-	2	0	FAM171A1	15296027	0.002000	0.14202	0.008000	0.14137	0.008000	0.06430	-0.455000	0.06762	-0.339000	0.08401	-2.010000	0.00438	CGC		0.527	FAM171A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046984.1	XM_167709		45	103	0	0	0	1	0	45	103					T	15256021	C	T	15256021	2	4	435	1	0	0	0	0	0	0	0	1	5490	755	27	1		1	FAM171A1	10	15256021	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	1020	15256021	120278726	4595	25520											
FAM171A1	221061	broad.mit.edu	37	chr10	15256156	15256156	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcatcattgcccgaggactcGtagccttctctttccataga	8	13	7	13	2	3	1	2	0	1	1	6	3	4	2	3	1	2	1	3	1	2	5	rs370616970		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:15256156G>A	ENST00000378116.4	-	8	1437	c.1431C>T	c.(1429-1431)taC>taT	p.Y477Y	FAM171A1_ENST00000477161.1_5'Flank	NM_001010924.1	NP_001010924.1	Q5VUB5	F1711_HUMAN	family with sequence similarity 171, member A1	477						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(6)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	52						CCGAGGACTCGTAGCCTTCTC	0.483																																						ENST00000378116.4																			0				breast(6)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	52						c.(1429-1431)taC>taT		family with sequence similarity 171, member A1		G		2,4404	4.2+/-10.8	0,2,2201	103	91	95		1431	-5.1	0.8	10		95	0,8600		0,0,4300	no	coding-synonymous	FAM171A1	NM_001010924.1		0,2,6501	AA,AG,GG		0.0,0.0454,0.0154		477/891	15256156	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	221061					integral to membrane		g.chr10:15256156G>A	AK022946	CCDS31154.1	10p13	2008-06-16	2008-06-16	2008-06-16	ENSG00000148468	ENSG00000148468			23522	protein-coding gene	gene with protein product			"chromosome 10 open reading frame 38"	C10orf38			Standard	NM_001010924		Approved	FLJ12884	uc001iob.3	Q5VUB5	OTTHUMG00000017732	ENST00000378116.4:c.1431C>T	10.37:g.15256156G>A							p.Y477Y	NM_001010924.1	NP_001010924.1	Q5VUB5	F1711_HUMAN			8	1437	-			477					D3DRT9|Q32M49|Q8N4I0	Silent	SNP	ENST00000378116.4	37	c.1431C>T	CCDS31154.1																																																																																				0.483	FAM171A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046984.1	XM_167709		19	92	0	0	0	1	0	19	92					A	15256156	G	A	15256156	2	1	435	1	0	0	0	0	0	0	0	1	5490	1140	40	1		1	FAM171A1	10	15256156	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	135	15256156	120278591	4596	25521											
ITGA8	8516	broad.mit.edu	37	chr10	15714696	15714696	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gccagtttcctgaggatatcCttgaatgagtaatttgcaat	11	14	9	7	0	0	3	0	3	0	0	2	4	2	4	3	1	1	3	3	1	4	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:15714696C>A	ENST00000378076.3	-	7	1082	c.729G>T	c.(727-729)aaG>aaT	p.K243N		NM_003638.1	NP_003629	P53708	ITA8_HUMAN	integrin, alpha 8	243					brain development (GO:0007420)|cell projection organization (GO:0030030)|cell-matrix adhesion (GO:0007160)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|integrin-mediated signaling pathway (GO:0007229)|kidney development (GO:0001822)|memory (GO:0007613)|mesodermal cell differentiation (GO:0048333)|metanephros development (GO:0001656)|positive regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation (GO:2000721)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|single organismal cell-cell adhesion (GO:0016337)|smooth muscle tissue development (GO:0048745)|substrate adhesion-dependent cell spreading (GO:0034446)	apical part of cell (GO:0045177)|cell surface (GO:0009986)|dendritic spine membrane (GO:0032591)|endoplasmic reticulum (GO:0005783)|focal adhesion (GO:0005925)|integrin alpha8-beta1 complex (GO:0034678)|integrin complex (GO:0008305)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	metal ion binding (GO:0046872)			NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						TGAGGATATCCTTGAATGAGT	0.423																																						ENST00000378076.3																			0				NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						c.(727-729)aaG>aaT		integrin, alpha 8							136	129	131					10																	15714696		2203	4300	6503	SO:0001583	missense	8516				cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development	integrin complex	receptor activity	g.chr10:15714696C>A	L36531	CCDS31155.1	10p13	2010-03-23			ENSG00000077943	ENSG00000077943		"Integrins"	6144	protein-coding gene	gene with protein product		604063				7768999	Standard	XM_005252633		Approved		uc001ioc.1	P53708	OTTHUMG00000017733	ENST00000378076.3:c.729G>T	10.37:g.15714696C>A	ENSP00000367316:p.Lys243Asn						p.K243N	NM_003638.1	NP_003629.1	P53708	ITA8_HUMAN			7	1082	-			243					B0YJ31|Q5VX94	Missense_Mutation	SNP	ENST00000378076.3	37	c.729G>T	CCDS31155.1	.	.	.	.	.	.	.	.	.	.	C	15.28	2.786203	0.49997	.	.	ENSG00000077943	ENST00000378076;ENST00000538044	T	0.22134	1.97	5.33	1.27	0.21489	.	0.041390	0.85682	D	0.000000	T	0.26557	0.0649	N	0.20986	0.625	0.47778	D	0.999511	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.01121	-1.1445	10	0.22109	T	0.4	.	11.2904	0.49247	0.0:0.7385:0.0:0.2615	.	243;243	F5H818;P53708	.;ITA8_HUMAN	N	243	ENSP00000367316:K243N	ENSP00000367316:K243N	K	-	3	2	ITGA8	15754702	0.989000	0.36119	1.000000	0.80357	0.886000	0.51366	0.167000	0.16602	0.306000	0.22856	0.591000	0.81541	AAG		0.423	ITGA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046987.1	NM_003638		28	37	1	0	2.12542e-12	1	2.29988e-12	28	37					A	15714696	C	A	15714696	3	1	435	1	0	0	0	0	1	0	0	0	7882	680	24	5	2558	5	ITGA8	10	15714696	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	458540	15714696	119820051	4597	25522											
CUBN	8029	broad.mit.edu	37	chr10	16932470	16932470	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ataacgggacccggagccacGttcccacagccagtggctag	10	5	12	14	3	0	0	0	0	0	0	1	2	1	2	4	3	3	2	4	3	2	3	rs369599232		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:16932470G>A	ENST00000377833.4	-	55	8720	c.8655C>T	c.(8653-8655)aaC>aaT	p.N2885N		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	2885	CUB 21. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cholesterol metabolic process (GO:0008203)|cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|tissue homeostasis (GO:0001894)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|cobalamin binding (GO:0031419)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)|transporter activity (GO:0005215)			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	CCGGAGCCACGTTCCCACAGC	0.562																																						ENST00000377833.4																			0				breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241						c.(8653-8655)aaC>aaT		cubilin (intrinsic factor-cobalamin receptor)	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	G		0,4406		0,0,2203	113	102	106		8655	-3.2	0	10		106	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	CUBN	NM_001081.3		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		2885/3624	16932470	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	8029				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity	g.chr10:16932470G>A	AF034611	CCDS7113.1	10p12	2014-09-17			ENSG00000107611	ENSG00000107611			2548	protein-coding gene	gene with protein product		602997		MGA1		9572993, 9478979	Standard	NM_001081		Approved	IFCR, gp280	uc001ioo.3	O60494	OTTHUMG00000017741	ENST00000377833.4:c.8655C>T	10.37:g.16932470G>A							p.N2885N	NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN			55	8720	-			2885			CUB 21.		B0YIZ4|Q5VTA6|Q96RU9	Silent	SNP	ENST00000377833.4	37	c.8655C>T	CCDS7113.1																																																																																				0.562	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047009.1	NM_001081		20	25	0	0	0	1	0	20	25					A	16932470	G	A	16932470	2	1	435	1	0	0	0	0	0	0	0	1	4051	1136	40	1		1	CUBN	10	16932470	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	1217774	16932470	118602277	4598	25523											
CUBN	8029	broad.mit.edu	37	chr10	16975190	16975190	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgggagcctggatgagccacGtacagtccactctattactg	9	9	11	12	2	1	1	0	1	1	0	2	3	2	3	3	2	4	1	3	2	3	3	rs140202552		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:16975190G>A	ENST00000377833.4	-	40	6085	c.6020C>T	c.(6019-6021)aCg>aTg	p.T2007M		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	2007	CUB 14. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cholesterol metabolic process (GO:0008203)|cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|tissue homeostasis (GO:0001894)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|cobalamin binding (GO:0031419)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)|transporter activity (GO:0005215)			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	GATGAGCCACGTACAGTCCAC	0.532																																						ENST00000377833.4																			0				breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241						c.(6019-6021)aCg>aTg		cubilin (intrinsic factor-cobalamin receptor)	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	G	MET/THR	0,4406		0,0,2203	120	103	109		6020	-5	0	10	dbSNP_134	109	3,8597	3.0+/-9.4	0,3,4297	yes	missense	CUBN	NM_001081.3	81	0,3,6500	AA,AG,GG		0.0349,0.0,0.0231	benign	2007/3624	16975190	3,13003	2203	4300	6503	SO:0001583	missense	8029				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity	g.chr10:16975190G>A	AF034611	CCDS7113.1	10p12	2014-09-17			ENSG00000107611	ENSG00000107611			2548	protein-coding gene	gene with protein product		602997		MGA1		9572993, 9478979	Standard	NM_001081		Approved	IFCR, gp280	uc001ioo.3	O60494	OTTHUMG00000017741	ENST00000377833.4:c.6020C>T	10.37:g.16975190G>A	ENSP00000367064:p.Thr2007Met						p.T2007M	NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN			40	6085	-			2007			CUB 14.		B0YIZ4|Q5VTA6|Q96RU9	Missense_Mutation	SNP	ENST00000377833.4	37	c.6020C>T	CCDS7113.1	.	.	.	.	.	.	.	.	.	.	G	12.01	1.810025	0.32053	0.0	3.49E-4	ENSG00000107611	ENST00000377833	T	0.36878	1.23	5.85	-5.0	0.03001	CUB (5);	1.745590	0.03445	N	0.209875	T	0.29976	0.0750	L	0.58969	1.84	0.09310	N	1	P	0.35628	0.513	B	0.30646	0.118	T	0.25572	-1.0128	10	0.28530	T	0.3	.	8.4503	0.32866	0.3679:0.1713:0.4608:0.0	.	2007	O60494	CUBN_HUMAN	M	2007	ENSP00000367064:T2007M	ENSP00000367064:T2007M	T	-	2	0	CUBN	17015196	0.000000	0.05858	0.000000	0.03702	0.057000	0.15508	0.798000	0.27014	-0.931000	0.03746	-0.165000	0.13383	ACG		0.532	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047009.1	NM_001081		12	30	0	0	0	1	0	12	30					A	16975190	G	A	16975190	3	1	435	1	0	0	0	0	1	0	0	0	4051	1145	40	1	4963	1	CUBN	10	16975190	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	42720	16975190	118559557	4599	25524											
CUBN	8029	broad.mit.edu	37	chr10	16979632	16979632	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caccatcaggtgcatccactGcaaaccactccagaaggaat	14	6	7	14	0	1	1	1	0	0	1	3	2	3	2	4	2	3	2	4	2	3	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:16979632G>A	ENST00000377833.4	-	39	5950	c.5885C>T	c.(5884-5886)gCa>gTa	p.A1962V		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	1962	CUB 13. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cholesterol metabolic process (GO:0008203)|cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|tissue homeostasis (GO:0001894)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|cobalamin binding (GO:0031419)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)|transporter activity (GO:0005215)			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TGCATCCACTGCAAACCACTC	0.423																																						ENST00000377833.4																			0				breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241						c.(5884-5886)gCa>gTa		cubilin (intrinsic factor-cobalamin receptor)	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)						59	61	61					10																	16979632		2203	4300	6503	SO:0001583	missense	8029				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity	g.chr10:16979632G>A	AF034611	CCDS7113.1	10p12	2014-09-17			ENSG00000107611	ENSG00000107611			2548	protein-coding gene	gene with protein product		602997		MGA1		9572993, 9478979	Standard	NM_001081		Approved	IFCR, gp280	uc001ioo.3	O60494	OTTHUMG00000017741	ENST00000377833.4:c.5885C>T	10.37:g.16979632G>A	ENSP00000367064:p.Ala1962Val						p.A1962V	NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN			39	5950	-			1962			CUB 13.		B0YIZ4|Q5VTA6|Q96RU9	Missense_Mutation	SNP	ENST00000377833.4	37	c.5885C>T	CCDS7113.1	.	.	.	.	.	.	.	.	.	.	G	16.74	3.208185	0.58343	.	.	ENSG00000107611	ENST00000377833	T	0.37752	1.18	5.24	4.32	0.51571	CUB (4);	0.000000	0.38778	N	0.001572	T	0.57636	0.2067	M	0.80982	2.52	0.80722	D	1	D	0.76494	0.999	D	0.64687	0.928	T	0.57723	-0.7762	10	0.36615	T	0.2	.	13.5664	0.61822	0.0753:0.0:0.9247:0.0	.	1962	O60494	CUBN_HUMAN	V	1962	ENSP00000367064:A1962V	ENSP00000367064:A1962V	A	-	2	0	CUBN	17019638	1.000000	0.71417	0.957000	0.39632	0.206000	0.24218	6.780000	0.75063	2.588000	0.87417	0.591000	0.81541	GCA		0.423	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047009.1	NM_001081		21	32	0	0	0	1	0	21	32					A	16979632	G	A	16979632	3	1	435	1	0	0	0	0	1	0	0	0	4051	1319	46	3	5102	3	CUBN	10	16979632	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	4442	16979632	118555115	4600	25525											
TRDMT1	1787	broad.mit.edu	37	chr10	17210864	17210864	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaatggctggcagggagggCtcattaaaatcatatcaaaa	15	9	11	6	0	3	1	3	1	0	0	3	2	3	2	0	4	0	3	0	4	6	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:17210864C>T	ENST00000377799.3	-	3	274	c.227G>A	c.(226-228)aGc>aAc	p.S76N	TRDMT1_ENST00000358282.7_Intron|TRDMT1_ENST00000457442.2_Intron|TRDMT1_ENST00000452380.2_5'UTR|TRDMT1_ENST00000412821.3_Missense_Mutation_p.S76N|TRDMT1_ENST00000488990.1_Intron|TRDMT1_ENST00000377766.5_Intron|TRDMT1_ENST00000351358.4_Missense_Mutation_p.S76N	NM_004412.5	NP_004403.1	O14717	TRDMT_HUMAN	tRNA aspartic acid methyltransferase 1	76	SAM-dependent MTase C5-type. {ECO:0000255|PROSITE-ProRule:PRU01016}.				C-5 methylation of cytosine (GO:0090116)|response to amphetamine (GO:0001975)|tRNA methylation (GO:0030488)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA binding (GO:0003677)|RNA binding (GO:0003723)|tRNA methyltransferase activity (GO:0008175)			breast(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(4)|ovary(1)|prostate(1)	18					Pentamidine(DB00738)	GCAGGGAGGGCTCATTAAAAT	0.383																																						ENST00000377799.3																			0				breast(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(4)|ovary(1)|prostate(1)	18						c.(226-228)aGc>aAc		tRNA aspartic acid methyltransferase 1							71	70	70					10																	17210864		2203	4300	6503	SO:0001583	missense	1787				tRNA processing	nucleus	DNA (cytosine-5-)-methyltransferase activity|DNA binding|RNA binding	g.chr10:17210864C>T	AJ223333	CCDS7114.1	10p15.1	2006-10-23	2006-10-23	2006-10-23	ENSG00000107614	ENSG00000107614	2.1.1.37		2977	protein-coding gene	gene with protein product		602478	"DNA (cytosine-5-)-methyltransferase 2"	DNMT2		9425235, 9763678, 16424344	Standard	NM_004412		Approved	RNMT1	uc001iop.3	O14717	OTTHUMG00000017745	ENST00000377799.3:c.227G>A	10.37:g.17210864C>T	ENSP00000367030:p.Ser76Asn					TRDMT1_ENST00000358282.7_Intron|TRDMT1_ENST00000377766.5_Intron|TRDMT1_ENST00000457442.2_Intron|TRDMT1_ENST00000412821.3_Missense_Mutation_p.S76N|TRDMT1_ENST00000452380.2_5'UTR|TRDMT1_ENST00000488990.1_Intron|TRDMT1_ENST00000351358.4_Missense_Mutation_p.S76N	p.S76N	NM_004412.5	NP_004403.1	O14717	TRDMT_HUMAN			3	274	-			76					B0YJ02|B0YJ03|B0YJ07|B0YJ08|O43669|Q86WW6	Missense_Mutation	SNP	ENST00000377799.3	37	c.227G>A	CCDS7114.1	.	.	.	.	.	.	.	.	.	.	C	29.4	5.000279	0.93227	.	.	ENSG00000107614	ENST00000377799;ENST00000412821;ENST00000351358;ENST00000525762	D;D;D;D	0.85629	-2.01;-2.01;-2.01;-2.01	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	D	0.94447	0.8213	M	0.91663	3.23	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;0.992;0.999;0.999	D	0.94764	0.7939	10	0.87932	D	0	-14.846	19.9975	0.97389	0.0:1.0:0.0:0.0	.	5;76;76;76	B7Z1Y7;O14717-3;O14717-2;O14717	.;.;.;TRDMT_HUMAN	N	76;76;76;58	ENSP00000367030:S76N;ENSP00000409354:S76N;ENSP00000324328:S76N;ENSP00000431476:S58N	ENSP00000324328:S76N	S	-	2	0	TRDMT1	17250870	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.366000	0.73095	2.827000	0.97445	0.650000	0.86243	AGC		0.383	TRDMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047024.3	NM_004412		10	16	0	0	0	1	0	10	16					T	17210864	C	T	17210864	3	4	435	1	0	0	0	0	1	0	0	0	16464	797	28	3	984	3	TRDMT1	10	17210864	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	231232	17210864	118323883	4601	25526											
TRDMT1	1787	broad.mit.edu	37	chr10	17216557	17216557	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacaattactcacttcaatcGtcttggcaagtaactgtgtg	11	13	8	9	1	3	0	2	0	1	0	4	1	3	0	0	1	2	2	0	1	5	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:17216557G>A	ENST00000377799.3	-	2	214	c.167C>T	c.(166-168)aCg>aTg	p.T56M	TRDMT1_ENST00000358282.7_Missense_Mutation_p.T56M|TRDMT1_ENST00000457442.2_Nonsense_Mutation_p.R23*|TRDMT1_ENST00000412821.3_Missense_Mutation_p.T56M|TRDMT1_ENST00000488990.1_Missense_Mutation_p.T56M|TRDMT1_ENST00000377766.5_Missense_Mutation_p.T56M|TRDMT1_ENST00000351358.4_Missense_Mutation_p.T56M	NM_004412.5	NP_004403.1	O14717	TRDMT_HUMAN	tRNA aspartic acid methyltransferase 1	56	SAM-dependent MTase C5-type. {ECO:0000255|PROSITE-ProRule:PRU01016}.				C-5 methylation of cytosine (GO:0090116)|response to amphetamine (GO:0001975)|tRNA methylation (GO:0030488)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA binding (GO:0003677)|RNA binding (GO:0003723)|tRNA methyltransferase activity (GO:0008175)			breast(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(4)|ovary(1)|prostate(1)	18					Pentamidine(DB00738)	CACTTCAATCGTCTTGGCAAG	0.378																																						ENST00000457442.2																			0				breast(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(4)|ovary(1)|prostate(1)	18						c.(67-69)Cga>Tga		tRNA aspartic acid methyltransferase 1							133	117	123					10																	17216557		2203	4300	6503	SO:0001583	missense	1787				tRNA processing	nucleus	DNA (cytosine-5-)-methyltransferase activity|DNA binding|RNA binding	g.chr10:17216557G>A	AJ223333	CCDS7114.1	10p15.1	2006-10-23	2006-10-23	2006-10-23	ENSG00000107614	ENSG00000107614	2.1.1.37		2977	protein-coding gene	gene with protein product		602478	"DNA (cytosine-5-)-methyltransferase 2"	DNMT2		9425235, 9763678, 16424344	Standard	NM_004412		Approved	RNMT1	uc001iop.3	O14717	OTTHUMG00000017745	ENST00000377799.3:c.167C>T	10.37:g.17216557G>A	ENSP00000367030:p.Thr56Met					TRDMT1_ENST00000358282.7_Missense_Mutation_p.T56M|TRDMT1_ENST00000377799.3_Missense_Mutation_p.T56M|TRDMT1_ENST00000377766.5_Missense_Mutation_p.T56M|TRDMT1_ENST00000412821.3_Missense_Mutation_p.T56M|TRDMT1_ENST00000488990.1_Missense_Mutation_p.T56M|TRDMT1_ENST00000351358.4_Missense_Mutation_p.T56M	p.R23*			O14717	TRDMT_HUMAN			2	383	-			0					B0YJ02|B0YJ03|B0YJ07|B0YJ08|O43669|Q86WW6	Nonsense_Mutation	SNP	ENST00000377799.3	37	c.67C>T	CCDS7114.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	33|33	5.286923|5.286923	0.95517|0.95517	.|.	.|.	ENSG00000107614|ENSG00000107614	ENST00000457442|ENST00000377799;ENST00000412821;ENST00000351358;ENST00000377766;ENST00000358282;ENST00000488990;ENST00000525762	.|D;D;D;T;T;D;D	.|0.96587	.|-1.83;-1.83;-1.83;0.95;0.95;-4.06;-1.83	5.35|5.35	5.35|5.35	0.76521|0.76521	.|.	.|0.151919	.|0.64402	.|D	.|0.000017	.|D	.|0.97592	.|0.9211	M|M	0.62723|0.62723	1.935|1.935	0.48236|0.48236	D|D	0.99961|0.99961	.|D;D;D;D	.|0.89917	.|1.0;1.0;0.993;0.994	.|D;D;P;P	.|0.71184	.|0.966;0.972;0.655;0.689	.|D	.|0.98083	.|1.0405	.|10	0.59425|0.87932	D|D	0.04|0	-12.7603|-12.7603	17.9961|17.9961	0.89184|0.89184	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|56;56;56;56	.|B7Z8H2;O14717-3;O14717-2;O14717	.|.;.;.;TRDMT_HUMAN	X|M	23|56;56;56;56;56;56;38	.|ENSP00000367030:T56M;ENSP00000409354:T56M;ENSP00000324328:T56M;ENSP00000366996:T56M;ENSP00000351027:T56M;ENSP00000419625:T56M;ENSP00000431476:T38M	ENSP00000412256:R23X|ENSP00000324328:T56M	R|T	-|-	1|2	2|0	TRDMT1|TRDMT1	17256563|17256563	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.215000|0.215000	0.24574|0.24574	7.807000|7.807000	0.86032|0.86032	2.792000|2.792000	0.96026|0.96026	0.555000|0.555000	0.69702|0.69702	CGA|ACG		0.378	TRDMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047024.3	NM_004412		26	41	0	0	0	1	0	26	41					A	17216557	G	A	17216557	3	1	435	1	0	0	0	0	1	0	0	0	16464	1145	40	1	1048	1	TRDMT1	10	17216557	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	5693	17216557	118318190	4602	25527											
VIM	7431	broad.mit.edu	37	chr10	17271519	17271519	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cagccggagctacgtgactaCgtccacccgcacctacagcc	9	5	9	18	4	0	1	0	1	0	0	1	2	1	2	5	1	6	2	5	1	3	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:17271519C>T	ENST00000224237.5	+	1	243	c.98C>T	c.(97-99)aCg>aTg	p.T33M	VIM-AS1_ENST00000605833.1_RNA|VIM-AS1_ENST00000437232.1_RNA|VIM_ENST00000485947.1_3'UTR|VIM_ENST00000544301.1_Missense_Mutation_p.T33M			P08670	VIME_HUMAN	vimentin	33	Head.				apoptotic process (GO:0006915)|astrocyte development (GO:0014002)|Bergmann glial cell differentiation (GO:0060020)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular component movement (GO:0006928)|intermediate filament organization (GO:0045109)|lens fiber cell development (GO:0070307)|muscle filament sliding (GO:0030049)|negative regulation of neuron projection development (GO:0010977)|positive regulation of gene expression (GO:0010628)|viral process (GO:0016032)	cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|neuron projection (GO:0043005)|peroxisome (GO:0005777)|plasma membrane (GO:0005886)	double-stranded RNA binding (GO:0003725)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|protein C-terminus binding (GO:0008022)|scaffold protein binding (GO:0097110)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of eye lens (GO:0005212)			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						TACGTGACTACGTCCACCCGC	0.721																																						ENST00000544301.1																			0				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						c.(97-99)aCg>aTg		vimentin							12	12	12					10																	17271519		2182	4263	6445	SO:0001583	missense	7431				cellular component disassembly involved in apoptosis|cellular component movement|interspecies interaction between organisms|muscle filament sliding	cytosol|intermediate filament	protein C-terminus binding|structural constituent of cytoskeleton	g.chr10:17271519C>T	M14144	CCDS7120.1	10p13	2013-01-16			ENSG00000026025	ENSG00000026025		"Intermediate filaments type III"	12692	protein-coding gene	gene with protein product		193060					Standard	NM_003380		Approved		uc001iou.2	P08670	OTTHUMG00000017744	ENST00000224237.5:c.98C>T	10.37:g.17271519C>T	ENSP00000224237:p.Thr33Met					VIM_ENST00000224237.5_Missense_Mutation_p.T33M|VIM-AS1_ENST00000605833.1_RNA|VIM_ENST00000485947.1_3'UTR	p.T33M	NM_003380.3	NP_003371.2	P08670	VIME_HUMAN			2	511	+			33			Head.		B0YJC2|D3DRU4|Q15867|Q15868|Q15869|Q548L2|Q6LER9|Q8N850|Q96ML2|Q9NTM3	Missense_Mutation	SNP	ENST00000224237.5	37	c.98C>T	CCDS7120.1	.	.	.	.	.	.	.	.	.	.	C	12.70	2.015322	0.35511	.	.	ENSG00000026025	ENST00000544301;ENST00000224237;ENST00000545533	D;D	0.82711	-1.64;-1.64	5.26	4.33	0.51752	Intermediate filament head, DNA-binding domain (1);	0.320980	0.22166	N	0.063716	T	0.68495	0.3007	N	0.04508	-0.205	0.32189	N	0.579325	B;B;P;B;B	0.50156	0.133;0.067;0.932;0.349;0.133	B;B;B;B;B	0.43360	0.017;0.016;0.417;0.097;0.017	T	0.73697	-0.3901	10	0.33940	T	0.23	.	14.9651	0.71184	0.144:0.856:0.0:0.0	.	33;20;20;33;33	Q53HU8;F5H288;B3KRK8;B0YJC4;P08670	.;.;.;.;VIME_HUMAN	M	33;33;20	ENSP00000446007:T33M;ENSP00000224237:T33M	ENSP00000224237:T33M	T	+	2	0	VIM	17311525	0.530000	0.26330	0.985000	0.45067	0.031000	0.12232	1.756000	0.38390	1.173000	0.42796	0.448000	0.29417	ACG		0.721	VIM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047015.1	NM_003380		5	8	0	0	0	1	0	5	8					T	17271519	C	T	17271519	3	4	435	1	0	0	0	0	1	0	0	0	17163	536	19	1	100	1	VIM	10	17271519	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	54962	17271519	118263228	4603	25528											
ST8SIA6	338596	broad.mit.edu	37	chr10	17363216	17363216	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cttgctttagactcttcgagCgtgtagtatactttgaaaga	10	15	9	7	2	1	3	0	1	1	2	2	4	1	3	0	0	3	3	0	0	5	8			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:17363216C>T	ENST00000377602.4	-	8	932	c.858G>A	c.(856-858)acG>acA	p.T286T		NM_001004470.1	NP_001004470.1	P61647	SIA8F_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 6	286					carbohydrate biosynthetic process (GO:0016051)|cellular protein metabolic process (GO:0044267)|ganglioside biosynthetic process (GO:0001574)|glycolipid biosynthetic process (GO:0009247)|glycoprotein metabolic process (GO:0009100)|oligosaccharide metabolic process (GO:0009311)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|protein O-linked glycosylation (GO:0006493)|sialylation (GO:0097503)	Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)	sialyltransferase activity (GO:0008373)			endometrium(3)|kidney(3)|large_intestine(4)|liver(1)|lung(24)|ovary(1)|skin(1)	37						ACTCTTCGAGCGTGTAGTATA	0.433																																						ENST00000377602.4																			0				endometrium(3)|kidney(3)|large_intestine(4)|liver(1)|lung(24)|ovary(1)|skin(1)	37						c.(856-858)acG>acA		ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 6							139	146	144					10																	17363216		2203	4300	6503	SO:0001819	synonymous_variant	338596				post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity	g.chr10:17363216C>T		CCDS31158.1	10p13	2013-03-01	2005-02-07	2005-02-07	ENSG00000148488	ENSG00000148488		"Sialyltransferases"	23317	protein-coding gene	gene with protein product	"ST8Sia VI"	610139	"sialyltransferase 8F (alpha-2, 8-sialyltransferase)"	SIAT8F		11980897	Standard	XR_242697		Approved		uc001ipd.3	P61647	OTTHUMG00000017748	ENST00000377602.4:c.858G>A	10.37:g.17363216C>T							p.T286T	NM_001004470.1	NP_001004470.1	P61647	SIA8F_HUMAN			8	932	-			286					B0YJ97|B9EH72|Q5VZH4	Silent	SNP	ENST00000377602.4	37	c.858G>A	CCDS31158.1	.	.	.	.	.	.	.	.	.	.	C	0.021	-1.420576	0.01136	.	.	ENSG00000148488	ENST00000440449	.	.	.	5.18	-7.5	0.01351	.	.	.	.	.	T	0.30978	0.0782	.	.	.	0.32113	N	0.589013	.	.	.	.	.	.	T	0.36359	-0.9751	4	.	.	.	0.8831	5.9037	0.18980	0.2924:0.3042:0.0:0.4034	.	.	.	.	T	107	.	.	A	-	1	0	ST8SIA6	17403222	0.002000	0.14202	0.002000	0.10522	0.018000	0.09664	-1.684000	0.01932	-1.523000	0.01767	-1.154000	0.01816	GCT		0.433	ST8SIA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047036.1	NM_001004470		49	73	0	0	0	1	0	49	73					T	17363216	C	T	17363216	2	4	435	1	0	0	0	0	0	0	0	1	15235	755	27	1		1	ST8SIA6	10	17363216	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	91697	17363216	118171531	4604	25529											
SLC39A12	221074	broad.mit.edu	37	chr10	18254429	18254429	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagtgtatggaaaccaaaacGctgcagaaaaaatctggaat	18	7	9	7	1	1	1	0	0	1	1	1	3	1	3	1	2	3	3	1	2	8	1	rs149105221		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:18254429G>A	ENST00000377369.2	+	4	834	c.561G>A	c.(559-561)acG>acA	p.T187T	SLC39A12_ENST00000539911.1_Silent_p.T53T|SLC39A12_ENST00000377374.4_Silent_p.T187T|SLC39A12_ENST00000377371.3_Silent_p.T187T	NM_001145195.1|NM_001282733.1|NM_001282734.1	NP_001138667.1|NP_001269662.1|NP_001269663.1	Q504Y0	S39AC_HUMAN	solute carrier family 39 (zinc transporter), member 12	187					regulation of microtubule polymerization (GO:0031113)|regulation of neuron projection development (GO:0010975)|signal transduction (GO:0007165)|zinc ion transmembrane import (GO:0071578)	integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	zinc ion transmembrane transporter activity (GO:0005385)			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(5)|lung(38)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	60						AAACCAAAACGCTGCAGAAAA	0.378																																						ENST00000377369.2																			0				NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(5)|lung(38)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	60						c.(559-561)acG>acA		solute carrier family 39 (zinc transporter), member 12		G	,	0,4406		0,0,2203	69	69	69		561,561	-7.2	0	10	dbSNP_134	69	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	SLC39A12	NM_001145195.1,NM_152725.3	,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,	187/692,187/655	18254429	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	221074				zinc ion transport	integral to membrane	metal ion transmembrane transporter activity	g.chr10:18254429G>A		CCDS7124.1, CCDS44362.1, CCDS60493.1, CCDS60494.1	10p12.33	2013-05-22			ENSG00000148482	ENSG00000148482		"Solute carriers"	20860	protein-coding gene	gene with protein product		608734	"solute carrier family 39 (metal ion transporter), member 12"			12659941	Standard	NM_152725		Approved	FLJ30499	uc001ipo.2	Q504Y0	OTTHUMG00000017759	ENST00000377369.2:c.561G>A	10.37:g.18254429G>A						SLC39A12_ENST00000539911.1_Silent_p.T53T|SLC39A12_ENST00000377371.3_Silent_p.T187T|SLC39A12_ENST00000377374.4_Silent_p.T187T	p.T187T	NM_001145195.1	NP_001138667.1	Q504Y0	S39AC_HUMAN			4	834	+			187					B7ZL35|C9JJL4|Q49AN8|Q4G0L3|Q5VWV8|Q5VWV9|Q6NZY5|Q96NN4	Silent	SNP	ENST00000377369.2	37	c.561G>A	CCDS44362.1																																																																																				0.378	SLC39A12-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_152725		18	37	0	0	0	1	0	18	37					A	18254429	G	A	18254429	2	1	435	1	0	0	0	0	0	0	0	1	14615	1074	38	1		1	SLC39A12	10	18254429	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	891213	18254429	117280318	4605	25530											
CACNB2	783	broad.mit.edu	37	chr10	18439868	18439868	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaggatctgatggaagcacGtcatctgatactacctcaaa	15	9	8	9	1	4	2	2	2	2	0	4	4	4	4	1	2	3	1	1	2	5	2	rs372915981		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:18439868G>A	ENST00000324631.7	+	2	237	c.177G>A	c.(175-177)acG>acA	p.T59T	CACNB2_ENST00000282343.8_Silent_p.T31T|CACNB2_ENST00000352115.6_Silent_p.T59T|CACNB2_ENST00000467034.1_3'UTR|CACNB2_ENST00000377331.2_Silent_p.T31T|CACNB2_ENST00000377328.1_Silent_p.T59T	NM_201593.2|NM_201596.2	NP_963887.2|NP_963890.2	Q08289	CACB2_HUMAN	calcium channel, voltage-dependent, beta 2 subunit	59					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|neuromuscular junction development (GO:0007528)|positive regulation of calcium ion transport (GO:0051928)|synaptic transmission (GO:0007268)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|voltage-gated calcium channel complex (GO:0005891)	calcium channel activity (GO:0005262)|voltage-gated calcium channel activity (GO:0005245)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|stomach(2)	31					Amlodipine(DB00381)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	ATGGAAGCACGTCATCTGATA	0.294																																						ENST00000282343.8																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|stomach(2)	31						c.(91-93)acG>acA		calcium channel, voltage-dependent, beta 2 subunit	Magnesium Sulfate(DB00653)|Verapamil(DB00661)	G	,,,,,	1,4405	2.1+/-5.4	0,1,2202	133	142	139		93,93,93,177,177,177	-11.9	0	10		139	0,8598		0,0,4299	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	CACNB2	NM_001167945.1,NM_201571.3,NM_201572.3,NM_201593.2,NM_201596.2,NM_201597.2	,,,,,	0,1,6501	AA,AG,GG		0.0,0.0227,0.0077	,,,,,	31/595,31/633,31/609,59/623,59/661,59/637	18439868	1,13003	2203	4299	6502	SO:0001819	synonymous_variant	783				axon guidance|neuromuscular junction development	integral to plasma membrane|sarcolemma|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity	g.chr10:18439868G>A	U95019	CCDS7125.1, CCDS7126.1, CCDS7127.1, CCDS7128.1, CCDS7129.1, CCDS41493.1, CCDS41494.1	10p12	2014-09-17			ENSG00000165995	ENSG00000165995		"Calcium channel subunits"	1402	protein-coding gene	gene with protein product		600003		MYSB, CACNLB2		9254841, 8494331	Standard	NM_201596		Approved		uc001ipr.2	Q08289	OTTHUMG00000017764	ENST00000324631.7:c.177G>A	10.37:g.18439868G>A						CACNB2_ENST00000467034.1_3'UTR|CACNB2_ENST00000377331.2_Silent_p.T31T|CACNB2_ENST00000352115.6_Silent_p.T59T|CACNB2_ENST00000324631.7_Silent_p.T59T|CACNB2_ENST00000377328.1_Silent_p.T59T	p.T31T	NM_001167945.1|NM_201571.3	NP_001161417.1|NP_963865.2	Q08289	CACB2_HUMAN			2	315	+			59					A6PVM5|A6PVM7|A6PVM8|O00304|Q5QJ99|Q5QJA0|Q5VVG9|Q5VVH0|Q5VWV6|Q6TME1|Q6TME2|Q6TME3|Q8WX81|Q96NZ3|Q96NZ4|Q96NZ5|Q9BWU2|Q9HD32|Q9Y340|Q9Y341	Silent	SNP	ENST00000324631.7	37	c.93G>A	CCDS7125.1																																																																																				0.294	CACNB2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047072.2	NM_000724		32	83	0	0	0	1	0	32	83					A	18439868	G	A	18439868	2	1	435	1	0	0	0	0	0	0	0	1	2553	1132	40	1		1	CACNB2	10	18439868	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	185439	18439868	117094879	4606	25531											
CACNB2	783	broad.mit.edu	37	chr10	18828568	18828568	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccgtcataaatccaaggatcGctactgtgaaaaggatggag	14	8	11	8	2	1	1	1	1	0	0	3	4	2	4	2	3	1	1	2	3	6	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:18828568G>A	ENST00000324631.7	+	14	1958	c.1898G>A	c.(1897-1899)cGc>cAc	p.R633H	CACNB2_ENST00000282343.8_Missense_Mutation_p.R605H|CACNB2_ENST00000396576.2_Missense_Mutation_p.R578H|CACNB2_ENST00000377319.3_Missense_Mutation_p.R540H|RP11-499P20.2_ENST00000425669.1_RNA|CACNB2_ENST00000377315.4_Missense_Mutation_p.R585H|CACNB2_ENST00000352115.6_Missense_Mutation_p.R609H|RP11-499P20.2_ENST00000436485.1_RNA|CACNB2_ENST00000377329.4_Missense_Mutation_p.R579H|CACNB2_ENST00000377331.2_Missense_Mutation_p.R581H|CACNB2_ENST00000377328.1_Missense_Mutation_p.R383H	NM_201593.2|NM_201596.2	NP_963887.2|NP_963890.2	Q08289	CACB2_HUMAN	calcium channel, voltage-dependent, beta 2 subunit	633					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|neuromuscular junction development (GO:0007528)|positive regulation of calcium ion transport (GO:0051928)|synaptic transmission (GO:0007268)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|voltage-gated calcium channel complex (GO:0005891)	calcium channel activity (GO:0005262)|voltage-gated calcium channel activity (GO:0005245)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|stomach(2)	31					Amlodipine(DB00381)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	TCCAAGGATCGCTACTGTGAA	0.527																																						ENST00000396576.2																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|stomach(2)	31						c.(1732-1734)cGc>cAc		calcium channel, voltage-dependent, beta 2 subunit	Magnesium Sulfate(DB00653)|Verapamil(DB00661)						69	64	66					10																	18828568		2203	4300	6503	SO:0001583	missense	783				axon guidance|neuromuscular junction development	integral to plasma membrane|sarcolemma|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity	g.chr10:18828568G>A	U95019	CCDS7125.1, CCDS7126.1, CCDS7127.1, CCDS7128.1, CCDS7129.1, CCDS41493.1, CCDS41494.1	10p12	2014-09-17			ENSG00000165995	ENSG00000165995		"Calcium channel subunits"	1402	protein-coding gene	gene with protein product		600003		MYSB, CACNLB2		9254841, 8494331	Standard	NM_201596		Approved		uc001ipr.2	Q08289	OTTHUMG00000017764	ENST00000324631.7:c.1898G>A	10.37:g.18828568G>A	ENSP00000320025:p.Arg633His					CACNB2_ENST00000377315.4_Missense_Mutation_p.R585H|CACNB2_ENST00000377331.2_Missense_Mutation_p.R581H|RP11-499P20.2_ENST00000425669.1_RNA|CACNB2_ENST00000352115.6_Missense_Mutation_p.R609H|CACNB2_ENST00000377319.3_Missense_Mutation_p.R540H|CACNB2_ENST00000282343.8_Missense_Mutation_p.R605H|CACNB2_ENST00000324631.7_Missense_Mutation_p.R633H|CACNB2_ENST00000377328.1_Missense_Mutation_p.R383H|CACNB2_ENST00000377329.4_Missense_Mutation_p.R579H	p.R578H	NM_000724.3	NP_000715.2	Q08289	CACB2_HUMAN			13	2234	+			633					A6PVM5|A6PVM7|A6PVM8|O00304|Q5QJ99|Q5QJA0|Q5VVG9|Q5VVH0|Q5VWV6|Q6TME1|Q6TME2|Q6TME3|Q8WX81|Q96NZ3|Q96NZ4|Q96NZ5|Q9BWU2|Q9HD32|Q9Y340|Q9Y341	Missense_Mutation	SNP	ENST00000324631.7	37	c.1733G>A	CCDS7125.1	.	.	.	.	.	.	.	.	.	.	G	19.01	3.743626	0.69418	.	.	ENSG00000165995	ENST00000324631;ENST00000352115;ENST00000377328;ENST00000282343;ENST00000377331;ENST00000396576;ENST00000377319;ENST00000377329;ENST00000377315	D;T;D;D;T;D;D;D;D	0.86097	-1.85;1.95;-2.07;-1.84;1.95;-1.96;-1.98;-1.96;-1.96	5.7	5.7	0.88788	.	0.402357	0.29900	N	0.010916	D	0.88209	0.6375	L	0.50333	1.59	0.58432	D	0.999999	P;P;D;P;D;P;D;P;D;P;D;D;D	0.89917	0.63;0.924;1.0;0.924;0.987;0.955;0.969;0.746;0.974;0.955;0.993;0.992;0.969	B;P;P;B;P;P;P;B;P;P;P;P;P	0.62560	0.217;0.468;0.904;0.344;0.668;0.669;0.468;0.388;0.55;0.669;0.681;0.822;0.468	D	0.88470	0.3061	10	0.87932	D	0	-14.0587	10.8677	0.46864	0.1137:0.0:0.8863:0.0	.	547;605;383;585;555;579;589;540;581;605;595;609;633	B7Z1U5;Q5QJA0;A6PVM6;Q5VVH1;Q6TME1;Q08289-3;Q59H42;Q08289-6;A6PVM7;Q08289-4;Q08289-7;Q08289-8;Q08289	.;.;.;.;.;.;.;.;.;.;.;.;CACB2_HUMAN	H	633;609;383;605;581;578;540;579;585	ENSP00000320025:R633H;ENSP00000344474:R609H;ENSP00000366545:R383H;ENSP00000282343:R605H;ENSP00000366548:R581H;ENSP00000379821:R578H;ENSP00000366536:R540H;ENSP00000366546:R579H;ENSP00000366532:R585H	ENSP00000282343:R605H	R	+	2	0	CACNB2	18868574	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.756000	0.55205	2.703000	0.92315	0.655000	0.94253	CGC		0.527	CACNB2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047072.2	NM_000724		4	57	0	0	0	1	0	4	57					A	18828568	G	A	18828568	3	1	435	1	0	0	0	0	1	0	0	0	2553	1087	38	1	2262	1	CACNB2	10	18828568	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	388700	18828568	116706179	4607	25532											
ARL5B	221079	broad.mit.edu	37	chr10	18962969	18962969	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aaacaggatatgaaagggtgTatgacagcagctgaaatctc	16	8	11	6	0	1	3	0	3	1	0	2	4	1	4	0	2	3	3	0	2	5	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:18962969T>C	ENST00000377275.3	+	5	629	c.396T>C	c.(394-396)tgT>tgC	p.C132C		NM_178815.3	NP_848930.1	Q96KC2	ARL5B_HUMAN	ADP-ribosylation factor-like 5B	132					small GTPase mediated signal transduction (GO:0007264)	intracellular (GO:0005622)	GTP binding (GO:0005525)			lung(1)|ovary(1)	2						TGAAAGGGTGTATGACAGCAG	0.398																																						ENST00000377275.3																			0				lung(1)|ovary(1)	2						c.(394-396)tgT>tgC		ADP-ribosylation factor-like 5B							133	116	122					10																	18962969		2203	4300	6503	SO:0001819	synonymous_variant	221079				small GTPase mediated signal transduction	intracellular	GTP binding	g.chr10:18962969T>C	AF494061	CCDS7131.1	10p13	2014-05-09	2005-11-03	2005-11-03	ENSG00000165997	ENSG00000165997		"ADP-ribosylation factors-like", "ADP-ribosylation factors"	23052	protein-coding gene	gene with protein product		608909	"ADP-ribosylation factor-like 8"	ARL8		12853149	Standard	XM_005252400		Approved		uc001iqd.1	Q96KC2	OTTHUMG00000017765	ENST00000377275.3:c.396T>C	10.37:g.18962969T>C							p.C132C	NM_178815.3	NP_848930.1	Q96KC2	ARL5B_HUMAN			5	629	+			132						Silent	SNP	ENST00000377275.3	37	c.396T>C	CCDS7131.1																																																																																				0.398	ARL5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047078.1	NM_178815		17	34	0	0	0	1	0	17	34					C	18962969	T	C	18962969	2	2	435	1	0	0	0	0	0	0	0	1	940	1644	57	4		4	ARL5B	10	18962969	Silent	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	134401	18962969	116571778	4608	25533											
NEBL	10529	broad.mit.edu	37	chr10	21120417	21120417	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cttacctggctggccatctcGgatgctttcttagctctctg	4	15	9	13	1	3	0	0	0	3	0	5	1	3	1	2	3	3	3	2	3	2	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:21120417G>A	ENST00000377122.4	-	15	1941	c.1545C>T	c.(1543-1545)tcC>tcT	p.S515S	NEBL_ENST00000417816.2_Intron|NEBL_ENST00000377159.4_Intron	NM_006393.2	NP_006384.1	O76041	NEBL_HUMAN	nebulette	515					cardiac muscle thin filament assembly (GO:0071691)	extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|cytoskeletal protein binding (GO:0008092)|filamin binding (GO:0031005)|structural constituent of muscle (GO:0008307)|tropomyosin binding (GO:0005523)			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						TGGCCATCTCGGATGCTTTCT	0.428																																						ENST00000377122.4																			0				NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						c.(1543-1545)tcC>tcT		nebulette							145	136	139					10																	21120417		2203	4300	6503	SO:0001819	synonymous_variant	10529				regulation of actin filament length		actin binding|structural constituent of muscle	g.chr10:21120417G>A	Y16241	CCDS7133.1, CCDS7134.1	10p12	2014-09-17			ENSG00000078114	ENSG00000078114			16932	protein-coding gene	gene with protein product		605491				9733644, 10470015	Standard	NM_213569		Approved		uc001iqi.3	O76041	OTTHUMG00000017788	ENST00000377122.4:c.1545C>T	10.37:g.21120417G>A						NEBL_ENST00000417816.2_Intron|NEBL_ENST00000377159.4_Intron	p.S515S	NM_006393.2	NP_006384.1	O76041	NEBL_HUMAN			15	1941	-			515					B0YJ45|Q2TBD0|Q70I54|Q9UIC4	Silent	SNP	ENST00000377122.4	37	c.1545C>T	CCDS7134.1																																																																																				0.428	NEBL-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000047113.1	NM_006393		11	31	0	0	0	1	0	11	31					A	21120417	G	A	21120417	2	1	435	1	0	0	0	0	0	0	0	1	10303	1103	39	2		2	NEBL	10	21120417	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	2157448	21120417	114414330	4609	25534											
NEBL	10529	broad.mit.edu	37	chr10	21139370	21139370	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgaagcttgatatgatggtGtctcaacaaattcaagcatt	13	14	8	6	0	2	3	2	3	1	0	3	3	2	3	0	1	3	2	0	1	5	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:21139370G>A	ENST00000377122.4	-	11	1466	c.1070C>T	c.(1069-1071)aCa>aTa	p.T357I	NEBL_ENST00000417816.2_Intron|NEBL_ENST00000377159.4_Intron	NM_006393.2	NP_006384.1	O76041	NEBL_HUMAN	nebulette	357					cardiac muscle thin filament assembly (GO:0071691)	extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|cytoskeletal protein binding (GO:0008092)|filamin binding (GO:0031005)|structural constituent of muscle (GO:0008307)|tropomyosin binding (GO:0005523)			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						ATATGATGGTGTCTCAACAAA	0.308																																						ENST00000377122.4																			0				NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						c.(1069-1071)aCa>aTa		nebulette							188	180	182					10																	21139370		2203	4300	6503	SO:0001583	missense	10529				regulation of actin filament length		actin binding|structural constituent of muscle	g.chr10:21139370G>A	Y16241	CCDS7133.1, CCDS7134.1	10p12	2014-09-17			ENSG00000078114	ENSG00000078114			16932	protein-coding gene	gene with protein product		605491				9733644, 10470015	Standard	NM_213569		Approved		uc001iqi.3	O76041	OTTHUMG00000017788	ENST00000377122.4:c.1070C>T	10.37:g.21139370G>A	ENSP00000366326:p.Thr357Ile					NEBL_ENST00000417816.2_Intron|NEBL_ENST00000377159.4_Intron	p.T357I	NM_006393.2	NP_006384.1	O76041	NEBL_HUMAN			11	1466	-			357					B0YJ45|Q2TBD0|Q70I54|Q9UIC4	Missense_Mutation	SNP	ENST00000377122.4	37	c.1070C>T	CCDS7134.1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.502637	0.85176	.	.	ENSG00000078114	ENST00000377122	T	0.60672	0.17	5.27	5.27	0.74061	.	0.000000	0.85682	D	0.000000	T	0.79930	0.4531	M	0.87038	2.855	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.82610	-0.0372	10	0.59425	D	0.04	.	18.0287	0.89276	0.0:0.0:1.0:0.0	.	357	O76041	NEBL_HUMAN	I	357	ENSP00000366326:T357I	ENSP00000366326:T357I	T	-	2	0	NEBL	21179376	1.000000	0.71417	0.999000	0.59377	0.983000	0.72400	7.753000	0.85153	2.640000	0.89533	0.655000	0.94253	ACA		0.308	NEBL-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000047113.1	NM_006393		19	52	0	0	0	1	0	19	52					A	21139370	G	A	21139370	3	1	435	1	0	0	0	0	1	0	0	0	10303	1377	48	3	2046	3	NEBL	10	21139370	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	18953	21139370	114395377	4610	25535											
NEBL	10529	broad.mit.edu	37	chr10	21250654	21250654	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtagctcaggagtgtccgTgacgatgctgaagcccctcc	7	9	12	13	2	1	2	1	2	0	0	3	4	3	3	4	1	3	3	4	1	2	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:21250654T>C	ENST00000417816.2	-	4	657	c.304A>G	c.(304-306)Acg>Gcg	p.T102A	NEBL_ENST00000377159.4_Missense_Mutation_p.T68A	NM_001173484.1|NM_213569.2	NP_001166955.1|NP_998734.1	O76041	NEBL_HUMAN	nebulette	765					cardiac muscle thin filament assembly (GO:0071691)	extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|cytoskeletal protein binding (GO:0008092)|filamin binding (GO:0031005)|structural constituent of muscle (GO:0008307)|tropomyosin binding (GO:0005523)			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						GGAGTGTCCGTGACGATGCTG	0.448																																						ENST00000417816.2																			0				NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						c.(304-306)Acg>Gcg		nebulette							223	205	211					10																	21250654		2203	4300	6503	SO:0001583	missense	10529				regulation of actin filament length		actin binding|structural constituent of muscle	g.chr10:21250654T>C	Y16241	CCDS7133.1, CCDS7134.1	10p12	2014-09-17			ENSG00000078114	ENSG00000078114			16932	protein-coding gene	gene with protein product		605491				9733644, 10470015	Standard	NM_213569		Approved		uc001iqi.3	O76041	OTTHUMG00000017788	ENST00000417816.2:c.304A>G	10.37:g.21250654T>C	ENSP00000393896:p.Thr102Ala					NEBL_ENST00000377159.4_Missense_Mutation_p.T68A	p.T102A	NM_001173484.1|NM_213569.2	NP_001166955.1|NP_998734.1	O76041	NEBL_HUMAN			4	657	-			765					B0YJ45|Q2TBD0|Q70I54|Q9UIC4	Missense_Mutation	SNP	ENST00000417816.2	37	c.304A>G	CCDS7133.1	.	.	.	.	.	.	.	.	.	.	T	1.565	-0.535733	0.04082	.	.	ENSG00000078114	ENST00000417816;ENST00000377159	T;T	0.31247	1.5;1.5	5.42	5.42	0.78866	.	.	.	.	.	T	0.12518	0.0304	N	0.02192	-0.645	0.21652	N	0.99961	B	0.26363	0.147	B	0.20384	0.029	T	0.05209	-1.0899	9	0.02654	T	1	.	15.7612	0.78082	0.0:0.0:0.0:1.0	.	102	Q70I54	.	A	102;68	ENSP00000393896:T102A;ENSP00000366364:T68A	ENSP00000366364:T68A	T	-	1	0	NEBL	21290660	0.974000	0.33945	0.076000	0.20297	0.950000	0.60333	1.914000	0.39966	2.182000	0.69389	0.528000	0.53228	ACG		0.448	NEBL-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047112.1	NM_006393		36	59	0	0	0	1	0	36	59					C	21250654	T	C	21250654	3	2	435	1	0	0	0	0	1	0	0	0	10303	1696	59	4	3213	4	NEBL	10	21250654	Missense_Mutation	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	111284	21250654	114284093	4611	25536											
C10orf140	387640	broad.mit.edu	37	chr10	21804455	21804455	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atttatattccccatcctcaGgttttggagaacctaaagtg	11	14	7	9	0	1	1	1	0	0	1	3	2	3	1	4	2	1	1	4	2	5	7			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:21804455G>A	ENST00000449193.2	-	4	4549	c.2297C>T	c.(2296-2298)cCt>cTt	p.P766L	SKIDA1_ENST00000444772.3_Missense_Mutation_p.P687L	NM_207371.3	NP_997254.3	Q1XH10	SKDA1_HUMAN	SKI/DACH domain containing 1	685						nucleus (GO:0005634)											CCCATCCTCAGGTTTTGGAGA	0.463																																						ENST00000449193.2																			0											c.(2296-2298)cCt>cTt		SKI/DACH domain containing 1							122	115	118					10																	21804455		1834	4082	5916	SO:0001583	missense	387640							g.chr10:21804455G>A	AK131456	CCDS44363.1	10p12.31	2012-06-13	2012-06-13	2012-06-13	ENSG00000180592	ENSG00000180592			32697	protein-coding gene	gene with protein product			"chromosome 10 open reading frame 140"	C10orf140			Standard	NM_207371		Approved	FLJ45187	uc021pnx.1	Q1XH10	OTTHUMG00000017797	ENST00000449193.2:c.2297C>T	10.37:g.21804455G>A	ENSP00000410041:p.Pro766Leu					SKIDA1_ENST00000444772.3_Missense_Mutation_p.P687L	p.P766L	NM_207371.3	NP_997254.3					4	4549	-								B1ANA5|Q6ZMX4|Q8N3C3	Missense_Mutation	SNP	ENST00000449193.2	37	c.2297C>T	CCDS44363.1	.	.	.	.	.	.	.	.	.	.	G	15.44	2.834106	0.50951	.	.	ENSG00000180592	ENST00000449193;ENST00000444772	.	.	.	5.87	5.87	0.94306	.	0.250644	0.39834	N	0.001241	T	0.49150	0.1540	L	0.34521	1.04	0.52501	D	0.999956	P	0.34864	0.473	B	0.28553	0.091	T	0.52808	-0.8526	9	0.87932	D	0	-5.4704	19.5705	0.95413	0.0:0.0:1.0:0.0	.	766	E9PAX1	.	L	766;687	.	ENSP00000442432:P687L	P	-	2	0	C10orf140	21844461	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.537000	0.53590	2.941000	0.99782	0.655000	0.94253	CCT		0.463	SKIDA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286950.2	NM_207371		52	70	0	0	0	1	0	52	70					A	21804455	G	A	21804455	3	1	435	1	0	0	0	0	1	0	0	0	1595	1000	35	3	433	3	C10orf140	10	21804455	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	553801	21804455	113730292	4612	25537											
C10orf140	387640	broad.mit.edu	37	chr10	21804814	21804814	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtctgcgaagagggcaaatcCgtagcaaattcaggacaatg	14	7	12	8	2	2	1	1	0	1	1	3	3	3	2	1	2	2	3	1	2	5	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:21804814C>T	ENST00000449193.2	-	4	4190	c.1938G>A	c.(1936-1938)acG>acA	p.T646T	SKIDA1_ENST00000444772.3_Silent_p.T567T	NM_207371.3	NP_997254.3	Q1XH10	SKDA1_HUMAN	SKI/DACH domain containing 1	565						nucleus (GO:0005634)											AGGGCAAATCCGTAGCAAATT	0.443																																						ENST00000449193.2																			0											c.(1936-1938)acG>acA		SKI/DACH domain containing 1							61	61	61					10																	21804814		1896	4130	6026	SO:0001819	synonymous_variant	387640							g.chr10:21804814C>T	AK131456	CCDS44363.1	10p12.31	2012-06-13	2012-06-13	2012-06-13	ENSG00000180592	ENSG00000180592			32697	protein-coding gene	gene with protein product			"chromosome 10 open reading frame 140"	C10orf140			Standard	NM_207371		Approved	FLJ45187	uc021pnx.1	Q1XH10	OTTHUMG00000017797	ENST00000449193.2:c.1938G>A	10.37:g.21804814C>T						SKIDA1_ENST00000444772.3_Silent_p.T567T	p.T646T	NM_207371.3	NP_997254.3					4	4190	-								B1ANA5|Q6ZMX4|Q8N3C3	Silent	SNP	ENST00000449193.2	37	c.1938G>A	CCDS44363.1																																																																																				0.443	SKIDA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286950.2	NM_207371		27	36	0	0	0	1	0	27	36					T	21804814	C	T	21804814	2	4	435	1	0	0	0	0	0	0	0	1	1595	639	23	2		2	C10orf140	10	21804814	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	359	21804814	113729933	4613	25538											
MLLT10	8028	broad.mit.edu	37	chr10	21959520	21959520	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgtttcagagactagagggtCagagggcaaagggaagaaat	15	7	15	4	0	2	4	2	0	0	4	2	6	2	5	0	3	0	2	0	3	4	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:21959520C>T	ENST00000307729.7	+	10	1116	c.938C>T	c.(937-939)tCa>tTa	p.S313L	MLLT10_ENST00000377059.3_Missense_Mutation_p.S313L|MLLT10_ENST00000446906.2_Missense_Mutation_p.S313L|MLLT10_ENST00000377072.3_Missense_Mutation_p.S313L			P55197	AF10_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 10	313	DNA-binding.				positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			NS(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6						ACTAGAGGGTCAGAGGGCAAA	0.473			T	"MLL, PICALM, CDK6"	AL																																	ENST00000377072.3				Dom	yes		10	10p12	8028	T	"myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 10 (AF10)"			L	"MLL, PICALM, CDK6"		AL		0				NS(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6						c.(937-939)tCa>tTa		myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 10							75	72	73					10																	21959520		2203	4300	6503	SO:0001583	missense	8028				positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr10:21959520C>T	U13948	CCDS7135.1, CCDS55706.1, CCDS55707.1, CCDS55708.1	10p12	2013-01-28	2001-11-28		ENSG00000078403	ENSG00000078403		"Zinc fingers, PHD-type"	16063	protein-coding gene	gene with protein product		602409	"myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 10"			7888665	Standard	NM_004641		Approved	AF10	uc021pny.1	P55197	OTTHUMG00000017799	ENST00000307729.7:c.938C>T	10.37:g.21959520C>T	ENSP00000307411:p.Ser313Leu					MLLT10_ENST00000307729.7_Missense_Mutation_p.S313L|MLLT10_ENST00000446906.2_Missense_Mutation_p.S313L|MLLT10_ENST00000377059.3_Missense_Mutation_p.S313L	p.S313L	NM_004641.3	NP_004632.1	P55197	AF10_HUMAN			10	1286	+			313			DNA-binding.		B1ANA8|Q5JT37|Q5VX90|Q66K63	Missense_Mutation	SNP	ENST00000307729.7	37	c.938C>T	CCDS55708.1	.	.	.	.	.	.	.	.	.	.	C	27.4	4.824593	0.90955	.	.	ENSG00000078403	ENST00000377072;ENST00000446906;ENST00000307729;ENST00000396529;ENST00000377059;ENST00000438473;ENST00000538639	T;T;T;T	0.17054	2.3;2.31;2.3;2.31	5.71	5.71	0.89125	.	0.741422	0.13084	N	0.415036	T	0.32971	0.0847	M	0.63843	1.955	0.80722	D	1	P;P;B;P	0.39480	0.675;0.651;0.421;0.651	P;B;B;B	0.46076	0.503;0.165;0.115;0.214	T	0.04078	-1.0979	10	0.66056	D	0.02	.	19.8405	0.96681	0.0:1.0:0.0:0.0	.	159;313;313;313	F5H541;E9PBP4;Q5VX90;P55197	.;.;.;AF10_HUMAN	L	313;313;313;159;313;53;52	ENSP00000366272:S313L;ENSP00000401406:S313L;ENSP00000307411:S313L;ENSP00000366258:S313L	ENSP00000307411:S313L	S	+	2	0	MLLT10	21999526	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.561000	0.60809	2.689000	0.91719	0.655000	0.94253	TCA		0.473	MLLT10-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047136.1			18	32	0	0	0	1	0	18	32					T	21959520	C	T	21959520	3	4	435	1	0	0	0	0	1	0	0	0	9626	838	29	3	972	3	MLLT10	10	21959520	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	154706	21959520	113575227	4614	25539											
PIP4K2A	5305	broad.mit.edu	37	chr10	22830863	22830863	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggtgggtgccatcgctctcGccctcctcctccccatcgtt	2	11	10	18	3	1	0	0	0	1	0	7	0	4	0	6	2	1	2	6	2	0	1	rs111483402	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:22830863G>A	ENST00000376573.4	-	8	1134	c.906C>T	c.(904-906)ggC>ggT	p.G302G	PIP4K2A_ENST00000323883.7_Silent_p.G162G|PIP4K2A_ENST00000545335.1_Silent_p.G243G	NM_005028.4	NP_005019.2	P48426	PI42A_HUMAN	phosphatidylinositol-5-phosphate 4-kinase, type II, alpha	302	PIPK. {ECO:0000255|PROSITE- ProRule:PRU00781}.				megakaryocyte development (GO:0035855)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	1-phosphatidylinositol-4-phosphate 5-kinase activity (GO:0016308)|1-phosphatidylinositol-5-phosphate 4-kinase activity (GO:0016309)|ATP binding (GO:0005524)			endometrium(4)|kidney(13)|large_intestine(4)|lung(6)|ovary(1)|skin(1)	29						CATCGCTCTCGCCCTCCTCCT	0.602													G|||	2	0.000399361	0	0	5008	,	,		17528	0		0.001	False		,,,				2504	0.001					ENST00000376573.4																			0				endometrium(4)|kidney(13)|large_intestine(4)|lung(6)|ovary(1)|skin(1)	29						c.(904-906)ggC>ggT		phosphatidylinositol-5-phosphate 4-kinase, type II, alpha		G		2,4404	4.2+/-10.8	0,2,2201	92	80	84		906	-1.8	1	10	dbSNP_132	84	9,8591	7.1+/-27.0	0,9,4291	no	coding-synonymous	PIP4K2A	NM_005028.4		0,11,6492	AA,AG,GG		0.1047,0.0454,0.0846		302/407	22830863	11,12995	2203	4300	6503	SO:0001819	synonymous_variant	5305						1-phosphatidylinositol-4-phosphate 5-kinase activity|1-phosphatidylinositol-5-phosphate 4-kinase activity|ATP binding	g.chr10:22830863G>A	S78798	CCDS7141.1	10p12.2	2007-08-21	2007-08-14	2007-08-14	ENSG00000150867	ENSG00000150867			8997	protein-coding gene	gene with protein product		603140	"phosphatidylinositol-4-phosphate 5-kinase, type II, alpha"	PIP5K2A		7852364, 9367159	Standard	NM_005028		Approved	PIP5KIIA, PIP5KIIalpha	uc001irl.4	P48426	OTTHUMG00000017810	ENST00000376573.4:c.906C>T	10.37:g.22830863G>A						PIP4K2A_ENST00000323883.7_Silent_p.G162G|PIP4K2A_ENST00000545335.1_Silent_p.G243G	p.G302G	NM_005028.4	NP_005019.2	P48426	PI42A_HUMAN			8	1134	-			302			PIPK.		B0YJ66|B4DGX2|D3DRV1|P53807|Q5VUX3	Silent	SNP	ENST00000376573.4	37	c.906C>T	CCDS7141.1																																																																																				0.602	PIP4K2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047193.1	NM_005028		4	36	0	0	0	1	0	4	36					A	22830863	G	A	22830863	2	1	435	1	0	0	0	0	0	0	0	1	11936	1074	38	1		1	PIP4K2A	10	22830863	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	871343	22830863	112703884	4615	25540											
ARMC3	219681	broad.mit.edu	37	chr10	23292175	23292175	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ctttttgcttttattgacagGgctttagatatccttgaaga	9	18	8	6	0	0	4	0	2	0	2	1	4	1	4	1	1	1	2	1	1	4	9			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:23292175G>A	ENST00000298032.5	+	13	1647	c.1563G>A	c.(1561-1563)ggG>ggA	p.G521G	ARMC3_ENST00000409049.3_Splice_Site_p.G521G|ARMC3_ENST00000376528.4_Splice_Site_p.G258G|ARMC3_ENST00000409983.3_Splice_Site_p.G521G	NM_173081.3	NP_775104.2	Q5W041	ARMC3_HUMAN	armadillo repeat containing 3	521						extracellular vesicular exosome (GO:0070062)				breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						TTATTGACAGGGCTTTAGATA	0.363																																						ENST00000298032.5																			0				breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						c.e13-1		armadillo repeat containing 3							67	67	67					10																	23292175		2203	4300	6503	SO:0001630	splice_region_variant	219681						binding	g.chr10:23292175G>A	AK057389	CCDS7142.1, CCDS60499.1, CCDS60500.1, CCDS73073.1	10p12.31	2013-02-14			ENSG00000165309	ENSG00000165309		"Armadillo repeat containing"	30964	protein-coding gene	gene with protein product	"cancer/testis antigen 81"	611226					Standard	XM_005252380		Approved	FLJ32827, CT81	uc001irm.4	Q5W041	OTTHUMG00000017811	ENST00000298032.5:c.1563-1G>A	10.37:g.23292175G>A						ARMC3_ENST00000376528.4_Splice_Site_p.G258_splice|ARMC3_ENST00000409049.3_Splice_Site_p.G521_splice|ARMC3_ENST00000409983.3_Splice_Site_p.G521_splice	p.G521_splice	NM_173081.3	NP_775104.2	Q5W041	ARMC3_HUMAN			13	1647	+			521					A0PG76|A6NH64|B4DZL3|B7ZBN6|B7ZBN7|Q8IXS5|Q8N7B0|Q96M49	Splice_Site	SNP	ENST00000298032.5	37	c.1562_splice	CCDS7142.1																																																																																				0.363	ARMC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047197.2	NM_173081	Silent	19	35	0	0	0	1	0	19	35					A	23292175	G	A	23292175	5	1	435	1	0	0	0	0	0	0	1	0	952	1246	43	3	1609	3	ARMC3	10	23292175	Splice_Site	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	461312	23292175	112242572	4616	25541											
PTF1A	256297	broad.mit.edu	37	chr10	23482762	23482762	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caaagtctggaccccagaggAccccagaaaactcaacagca	16	3	8	14	0	2	2	1	0	1	2	2	4	2	4	4	2	3	1	4	2	4	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:23482762A>G	ENST00000376504.3	+	2	1118	c.914A>G	c.(913-915)gAc>gGc	p.D305G		NM_178161.2	NP_835455.1	Q7RTS3	PTF1A_HUMAN	pancreas specific transcription factor, 1a	305					amacrine cell differentiation (GO:0035881)|cerebellum development (GO:0021549)|embryo development (GO:0009790)|endocrine pancreas development (GO:0031018)|exocrine pancreas development (GO:0031017)|neuron fate commitment (GO:0048663)|pancreas development (GO:0031016)|regulation of neural retina development (GO:0061074)|regulation of transcription, DNA-templated (GO:0006355)|retina layer formation (GO:0010842)|retinoic acid receptor signaling pathway (GO:0048384)|tissue development (GO:0009888)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|E-box binding (GO:0070888)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)			endometrium(1)|large_intestine(1)|lung(3)|pancreas(1)|skin(1)	7						ACCCCAGAGGACCCCAGAAAA	0.473																																						ENST00000376504.3																			0				endometrium(1)|large_intestine(1)|lung(3)|pancreas(1)|skin(1)	7						c.(913-915)gAc>gGc		pancreas specific transcription factor, 1a							114	130	124					10																	23482762		2203	4300	6503	SO:0001583	missense	256297				endocrine pancreas development|exocrine pancreas development|regulation of transcription, DNA-dependent|tissue development|transcription, DNA-dependent	cytoplasm|transcription factor complex		g.chr10:23482762A>G	BK000272	CCDS7143.1	10p12.31	2013-05-21			ENSG00000168267	ENSG00000168267		"Basic helix-loop-helix proteins"	23734	protein-coding gene	gene with protein product		607194				8703005	Standard	NM_178161		Approved	PTF1-p48, bHLHa29	uc001irp.3	Q7RTS3	OTTHUMG00000017815	ENST00000376504.3:c.914A>G	10.37:g.23482762A>G	ENSP00000365687:p.Asp305Gly						p.D305G	NM_178161.2	NP_835455.1	Q7RTS3	PTF1A_HUMAN			2	1118	+			305					Q9HC25	Missense_Mutation	SNP	ENST00000376504.3	37	c.914A>G	CCDS7143.1	.	.	.	.	.	.	.	.	.	.	A	20.6	4.009732	0.75046	.	.	ENSG00000168267	ENST00000376504	D	0.95482	-3.72	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	D	0.97275	0.9109	M	0.68593	2.085	0.58432	D	0.999998	D	0.89917	1.0	D	0.83275	0.996	D	0.97915	1.0311	10	0.87932	D	0	-6.4326	16.0402	0.80667	1.0:0.0:0.0:0.0	.	305	Q7RTS3	PTF1A_HUMAN	G	305	ENSP00000365687:D305G	ENSP00000365687:D305G	D	+	2	0	PTF1A	23522768	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.305000	0.96197	2.268000	0.75426	0.454000	0.30748	GAC		0.473	PTF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047210.1	NM_178161		30	76	0	0	0	1	0	30	76					G	23482762	A	G	23482762	3	3	435	1	0	0	0	0	1	0	0	0	12740	275	10	4	920	4	PTF1A	10	23482762	Missense_Mutation	SNP	A	TCGA-XK-AAIW-01A-11D-A41K-08	190587	23482762	112051985	4617	25542											
KIAA1217	56243	broad.mit.edu	37	chr10	24669871	24669871	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtcgagcatttatcagagaCgtccgctgattctttggaag	9	12	12	8	3	2	2	1	1	1	1	4	5	3	3	1	2	1	2	1	2	2	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:24669871C>T	ENST00000376454.3	+	3	458	c.428C>T	c.(427-429)aCg>aTg	p.T143M	KIAA1217_ENST00000458595.1_Missense_Mutation_p.T143M|KIAA1217_ENST00000376462.1_Missense_Mutation_p.T63M|KIAA1217_ENST00000430453.2_Missense_Mutation_p.T64M|KIAA1217_ENST00000376452.3_Missense_Mutation_p.T143M	NM_019590.3	NP_062536.2	Q5T5P2	SKT_HUMAN	KIAA1217	143					embryonic skeletal system development (GO:0048706)	cytoplasm (GO:0005737)				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						TTATCAGAGACGTCCGCTGAT	0.547																																						ENST00000376454.3																			0				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						c.(427-429)aCg>aTg		KIAA1217							68	71	70					10																	24669871		2203	4300	6503	SO:0001583	missense	56243				embryonic skeletal system development	cytoplasm		g.chr10:24669871C>T	BX640796	CCDS31165.1, CCDS41496.1, CCDS60501.1, CCDS60502.1, CCDS60504.1, CCDS60505.1	10p12.31	2009-09-16			ENSG00000120549	ENSG00000120549			25428	protein-coding gene	gene with protein product	"sickle tail"					10574462	Standard	XM_005252500		Approved	DKFZP761L0424, SKT	uc001iru.4	Q5T5P2	OTTHUMG00000017824	ENST00000376454.3:c.428C>T	10.37:g.24669871C>T	ENSP00000365637:p.Thr143Met					KIAA1217_ENST00000458595.1_Missense_Mutation_p.T143M|KIAA1217_ENST00000376462.1_Missense_Mutation_p.T63M|KIAA1217_ENST00000376452.3_Missense_Mutation_p.T143M|KIAA1217_ENST00000430453.2_Missense_Mutation_p.T64M	p.T143M	NM_019590.3	NP_062536.2	Q5T5P2	SKT_HUMAN			3	458	+			143					A5LHW9|A6NLF3|A6PVQ5|A6PVQ6|A6PVQ7|B9EGK4|Q4KMG4|Q5T5P3|Q5T7H3|Q6MZZ6|Q6ZUI4|Q8WV45|Q9NSR2|Q9ULK3	Missense_Mutation	SNP	ENST00000376454.3	37	c.428C>T	CCDS31165.1	.	.	.	.	.	.	.	.	.	.	C	18.10	3.547749	0.65311	.	.	ENSG00000120549	ENST00000376462;ENST00000376456;ENST00000458595;ENST00000376454;ENST00000376452;ENST00000430453	T;T;T;T;T;T	0.63913	-0.07;-0.07;-0.07;-0.07;-0.07;-0.07	5.54	4.63	0.57726	.	0.275239	0.40144	N	0.001180	T	0.61515	0.2353	L	0.36672	1.1	0.80722	D	1	D;D;D;P	0.63046	0.992;0.988;0.975;0.872	P;P;P;P	0.50270	0.636;0.563;0.46;0.46	T	0.65747	-0.6093	10	0.66056	D	0.02	.	14.3605	0.66768	0.0:0.9287:0.0:0.0713	.	143;143;143;143	Q5T5P2-7;A6NLF3;Q5T5P2;Q5T5P2-2	.;.;SKT_HUMAN;.	M	63;143;143;143;143;64	ENSP00000365645:T63M;ENSP00000365639:T143M;ENSP00000392625:T143M;ENSP00000365637:T143M;ENSP00000365635:T143M;ENSP00000389680:T64M	ENSP00000365635:T143M	T	+	2	0	KIAA1217	24709877	1.000000	0.71417	0.132000	0.22025	0.508000	0.34012	7.469000	0.80959	1.350000	0.45770	0.591000	0.81541	ACG		0.547	KIAA1217-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047223.2	NM_019590		20	27	0	0	0	1	0	20	27					T	24669871	C	T	24669871	3	4	435	1	0	0	0	0	1	0	0	0	8216	536	19	1	438	1	KIAA1217	10	24669871	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	1187109	24669871	110864876	4618	25543											
ARHGAP21	57584	broad.mit.edu	37	chr10	24889778	24889778	+	Frame_Shift_Del	DEL	T	T	-																															agacggagtcgtctgctctcTtttatctttgtacaggtaaa																										TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:24889778delT	ENST00000396432.2	-	14	3415	c.2929delA	c.(2929-2931)agafs	p.R977fs	ARHGAP21_ENST00000320481.6_Frame_Shift_Del_p.R764fs|ARHGAP21_ENST00000493154.1_Intron	NM_020824.3	NP_065875.3	Q5T5U3	RHG21_HUMAN	Rho GTPase activating protein 21	976	Interaction with ARF1 and ARF6.|PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				establishment of Golgi localization (GO:0051683)|Golgi organization (GO:0007030)|maintenance of Golgi location (GO:0051684)|organelle transport along microtubule (GO:0072384)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1)	78						GTCTGCTCTCTTTTATCTTTG	0.448																																						ENST00000396432.2																			0				NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1)	78						c.(2929-2931)gafs		Rho GTPase activating protein 21							78	80	79					10																	24889778		2203	4298	6501	SO:0001589	frameshift_variant	57584				signal transduction	cell junction|cytoplasmic vesicle membrane|cytoskeleton|Golgi membrane	GTPase activator activity|protein binding	g.chr10:24889778delT	AF480466	CCDS7144.2	10p12.31	2013-01-10			ENSG00000107863	ENSG00000107863		"Rho GTPase activating proteins", "Pleckstrin homology (PH) domain containing"	23725	protein-coding gene	gene with protein product		609870				12056806	Standard	NM_020824		Approved	KIAA1424, ARHGAP10	uc001isb.2	Q5T5U3	OTTHUMG00000017825	ENST00000396432.2:c.2929delA	10.37:g.24889778delT	ENSP00000379709:p.Arg977fs					ARHGAP21_ENST00000493154.1_Intron|ARHGAP21_ENST00000320481.6_Frame_Shift_Del_p.R764fs	p.R977fs	NM_020824.3	NP_065875.3	Q5T5U3	RHG21_HUMAN			14	3415	-			976			Interaction with ARF1 and ARF6.|PH.		Q0VF98|Q7Z3P7|Q8N3A2|Q8NI19|Q8TBV5|Q9P2C3	Frame_Shift_Del	DEL	ENST00000396432.2	37	c.2929delA	CCDS7144.2																																																																																				0.448	ARHGAP21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047229.4	NM_020824		9	93						9	93	---	---	---	---	-	24889778	T	-	24889778	7	5	435	1	0	1	0	1	0	0	0	0	871	1617	56	0	2999	0	ARHGAP21	10	24889778	Frame_Shift_Del	DEL	T	TCGA-XK-AAIW-01A-11D-A41K-08	219907	24889778	110644969	4619	25544											
THNSL1	79896	broad.mit.edu	37	chr10	25312242	25312242	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaacggataaacatgcacaGcgatttctttcaagaacctt	16	10	6	9	2	2	1	1	0	1	1	2	3	2	2	1	1	5	1	1	1	6	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:25312242G>A	ENST00000524413.1	+	3	437	c.90G>A	c.(88-90)caG>caA	p.Q30Q	THNSL1_ENST00000376356.4_Silent_p.Q30Q			Q8IYQ7	THNS1_HUMAN	threonine synthase-like 1 (S. cerevisiae)	30						cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)				NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(5)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	28					L-Threonine(DB00156)	AACATGCACAGCGATTTCTTT	0.378																																						ENST00000524413.1																			0				NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(5)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	28						c.(88-90)caG>caA		threonine synthase-like 1 (S. cerevisiae)	L-Threonine(DB00156)|Pyridoxal Phosphate(DB00114)						98	100	100					10																	25312242		2203	4300	6503	SO:0001819	synonymous_variant	79896				threonine biosynthetic process		ATP binding|pyridoxal phosphate binding|shikimate kinase activity|threonine synthase activity	g.chr10:25312242G>A	AK025655	CCDS7147.1	10p12.31	2008-02-05	2007-06-20		ENSG00000185875	ENSG00000185875			26160	protein-coding gene	gene with protein product		611260	"threonine synthase-like 1 (bacterial)"			12477932	Standard	NM_024838		Approved	FLJ22002	uc001isi.4	Q8IYQ7	OTTHUMG00000017828	ENST00000524413.1:c.90G>A	10.37:g.25312242G>A						THNSL1_ENST00000376356.4_Silent_p.Q30Q	p.Q30Q			Q8IYQ7	THNS1_HUMAN			3	437	+			30					B3KWL1|D3DRV3|Q5VV21	Silent	SNP	ENST00000524413.1	37	c.90G>A	CCDS7147.1																																																																																				0.378	THNSL1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394913.1	NM_024838		29	32	0	0	0	1	0	29	32					A	25312242	G	A	25312242	2	1	435	1	0	0	0	0	0	0	0	1	15859	962	34	3		3	THNSL1	10	25312242	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	422464	25312242	110222505	4620	25545											
GPR158	57512	broad.mit.edu	37	chr10	25886785	25886785	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acccccacctccagaaaaagCggtgctcgaagaagggccta	13	4	10	14	2	0	2	0	0	0	2	2	3	1	2	5	2	2	1	5	2	5	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:25886785C>T	ENST00000376351.3	+	11	2589	c.2230C>T	c.(2230-2232)Cgg>Tgg	p.R744W	GPR158_ENST00000490549.1_3'UTR	NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158	744					protein localization to plasma membrane (GO:0072659)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.R744W(1)		breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						CCAGAAAAAGCGGTGCTCGAA	0.498																																						ENST00000376351.3																			1	Substitution - Missense(1)	p.R744W(1)	lung(1)	breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						c.(2230-2232)Cgg>Tgg		G protein-coupled receptor 158							112	126	121					10																	25886785		2203	4300	6503	SO:0001583	missense	57512					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr10:25886785C>T	AB032962	CCDS31166.1	10p12.31	2012-08-21			ENSG00000151025	ENSG00000151025		"GPCR / Class C : Orphans"	23689	protein-coding gene	gene with protein product		614573					Standard	NM_020752		Approved	KIAA1136	uc001isj.3	Q5T848	OTTHUMG00000017832	ENST00000376351.3:c.2230C>T	10.37:g.25886785C>T	ENSP00000365529:p.Arg744Trp					GPR158_ENST00000490549.1_3'UTR	p.R744W	NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN			11	2589	+			744					Q6QR81|Q9ULT3	Missense_Mutation	SNP	ENST00000376351.3	37	c.2230C>T	CCDS31166.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.183544	0.78677	.	.	ENSG00000151025	ENST00000376351	T	0.66460	-0.21	5.54	4.58	0.56647	.	0.000000	0.64402	D	0.000013	T	0.75532	0.3862	M	0.75615	2.305	0.45025	D	0.998047	D	0.61080	0.989	P	0.56042	0.79	T	0.78723	-0.2093	10	0.87932	D	0	.	11.7345	0.51757	0.3467:0.6533:0.0:0.0	.	744	Q5T848	GP158_HUMAN	W	744	ENSP00000365529:R744W	ENSP00000365529:R744W	R	+	1	2	GPR158	25926791	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.330000	0.43885	2.606000	0.88127	0.650000	0.86243	CGG		0.498	GPR158-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047248.2	XM_166110		35	50	0	0	0	1	0	35	50					T	25886785	C	T	25886785	3	4	435	1	0	0	0	0	1	0	0	0	6663	759	27	1	2272	1	GPR158	10	25886785	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	574543	25886785	109647962	4621	25546											
MYO3A	53904	broad.mit.edu	37	chr10	26463214	26463214	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcaagttgaaccagtgacaCaggcccaggaggaagaagat	15	4	14	8	0	0	4	0	2	0	2	0	6	0	6	2	4	1	2	2	4	4	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:26463214C>T	ENST00000265944.5	+	30	4187	c.4021C>T	c.(4021-4023)Cag>Tag	p.Q1341*	MYO3A_ENST00000543632.1_Intron	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	1341					ATP catabolic process (GO:0006200)|inner ear development (GO:0048839)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of filopodium assembly (GO:0051491)|protein autophosphorylation (GO:0046777)|response to stimulus (GO:0050896)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|filamentous actin (GO:0031941)|filopodium (GO:0030175)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|photoreceptor inner segment (GO:0001917)|stereocilium bundle tip (GO:0032426)	actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|plus-end directed microfilament motor activity (GO:0060002)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						ACCAGTGACACAGGCCCAGGA	0.507																																						ENST00000265944.5																			0				NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						c.(4021-4023)Cag>Tag		myosin IIIA							129	130	130					10																	26463214		2203	4300	6503	SO:0001587	stop_gained	53904				protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity	g.chr10:26463214C>T	AF229172	CCDS7148.1	10p11.1	2011-09-27	2004-05-19		ENSG00000095777	ENSG00000095777		"Myosins / Myosin superfamily : Class III"	7601	protein-coding gene	gene with protein product		606808	"deafness, autosomal recessive 30"	DFNB30		10936054	Standard	NM_017433		Approved		uc001isn.2	Q8NEV4	OTTHUMG00000017837	ENST00000265944.5:c.4021C>T	10.37:g.26463214C>T	ENSP00000265944:p.Gln1341*					MYO3A_ENST00000543632.1_Intron	p.Q1341*	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN			30	4187	+			1341					Q4G0X2|Q5VZ28|Q8WX17|Q9NYS8	Nonsense_Mutation	SNP	ENST00000265944.5	37	c.4021C>T	CCDS7148.1	.	.	.	.	.	.	.	.	.	.	C	40	8.432266	0.98808	.	.	ENSG00000095777	ENST00000265944	.	.	.	5.63	2.71	0.32032	.	0.584231	0.20198	N	0.097145	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	7.8657	0.29535	0.0:0.4811:0.3812:0.1377	.	.	.	.	X	1341	.	ENSP00000265944:Q1341X	Q	+	1	0	MYO3A	26503220	0.000000	0.05858	0.000000	0.03702	0.028000	0.11728	0.454000	0.21827	0.294000	0.22547	0.563000	0.77884	CAG		0.507	MYO3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047259.1	NM_017433		23	23	0	0	0	1	0	23	23					T	26463214	C	T	26463214	4	4	435	1	0	0	0	0	0	1	0	0	10076	479	17	3	4131	3	MYO3A	10	26463214	Nonsense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	576429	26463214	109071533	4622	25547											
GAD2	2572	broad.mit.edu	37	chr10	26562621	26562621	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacaagtggaaactgagtggCgtggagaggtatgttgcatt	11	10	15	5	1	0	2	0	1	0	1	0	4	0	3	0	4	2	3	0	4	3	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:26562621C>T	ENST00000376261.3	+	11	1652	c.1149C>T	c.(1147-1149)ggC>ggT	p.G383G	GAD2_ENST00000259271.3_Silent_p.G383G	NM_001134366.1	NP_001127838.1	Q05329	DCE2_HUMAN	glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa)	383					glutamate decarboxylation to succinate (GO:0006540)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter secretion (GO:0007269)|response to drug (GO:0042493)|synaptic transmission (GO:0007268)	anchored component of membrane (GO:0031225)|axon (GO:0030424)|cell junction (GO:0030054)|clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane (GO:0061202)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|synaptic vesicle membrane (GO:0030672)	glutamate binding (GO:0016595)|glutamate decarboxylase activity (GO:0004351)|pyridoxal phosphate binding (GO:0030170)			central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(26)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						AACTGAGTGGCGTGGAGAGGT	0.383																																						ENST00000376261.3																			0				central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(26)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						c.(1147-1149)ggC>ggT		glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa)	L-Glutamic Acid(DB00142)						124	118	120					10																	26562621		2203	4300	6503	SO:0001819	synonymous_variant	2572				glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion	cell junction|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|Golgi membrane|presynaptic membrane	glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding	g.chr10:26562621C>T	AJ251501	CCDS7149.1	10p13-p11.2	2003-11-11	2002-08-29		ENSG00000136750	ENSG00000136750	4.1.1.15		4093	protein-coding gene	gene with protein product		138275	"glutamate decarboxylase 2 (pancreatic islets and brain, 65kD)"			2039509	Standard	NM_000818		Approved	GAD65	uc001isp.2	Q05329	OTTHUMG00000017836	ENST00000376261.3:c.1149C>T	10.37:g.26562621C>T						GAD2_ENST00000259271.3_Silent_p.G383G	p.G383G	NM_001134366.1	NP_001127838.1	Q05329	DCE2_HUMAN			11	1652	+			383					Q9UD87	Silent	SNP	ENST00000376261.3	37	c.1149C>T	CCDS7149.1																																																																																				0.383	GAD2-001	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047255.1	NM_000818		19	34	0	0	0	1	0	19	34					T	26562621	C	T	26562621	2	4	435	1	0	0	0	0	0	0	0	1	6180	755	27	1		1	GAD2	10	26562621	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	99407	26562621	108972126	4623	25548											
GAD2	2572	broad.mit.edu	37	chr10	26589804	26589804	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gagacaaggtcaatttcttcCgcatggtcatctcaaaccca	12	10	7	12	1	4	1	3	0	2	1	6	2	5	1	2	2	1	1	2	2	3	2	rs200401161		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:26589804C>T	ENST00000376261.3	+	16	2175	c.1672C>T	c.(1672-1674)Cgc>Tgc	p.R558C	GAD2_ENST00000259271.3_Missense_Mutation_p.R558C	NM_001134366.1	NP_001127838.1	Q05329	DCE2_HUMAN	glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa)	558					glutamate decarboxylation to succinate (GO:0006540)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter secretion (GO:0007269)|response to drug (GO:0042493)|synaptic transmission (GO:0007268)	anchored component of membrane (GO:0031225)|axon (GO:0030424)|cell junction (GO:0030054)|clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane (GO:0061202)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|synaptic vesicle membrane (GO:0030672)	glutamate binding (GO:0016595)|glutamate decarboxylase activity (GO:0004351)|pyridoxal phosphate binding (GO:0030170)			central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(26)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						CAATTTCTTCCGCATGGTCAT	0.468																																						ENST00000376261.3																			0				central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(26)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						c.(1672-1674)Cgc>Tgc		glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa)	L-Glutamic Acid(DB00142)						201	179	187					10																	26589804		2203	4300	6503	SO:0001583	missense	2572				glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion	cell junction|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|Golgi membrane|presynaptic membrane	glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding	g.chr10:26589804C>T	AJ251501	CCDS7149.1	10p13-p11.2	2003-11-11	2002-08-29		ENSG00000136750	ENSG00000136750	4.1.1.15		4093	protein-coding gene	gene with protein product		138275	"glutamate decarboxylase 2 (pancreatic islets and brain, 65kD)"			2039509	Standard	NM_000818		Approved	GAD65	uc001isp.2	Q05329	OTTHUMG00000017836	ENST00000376261.3:c.1672C>T	10.37:g.26589804C>T	ENSP00000365437:p.Arg558Cys					GAD2_ENST00000259271.3_Missense_Mutation_p.R558C	p.R558C	NM_001134366.1	NP_001127838.1	Q05329	DCE2_HUMAN			16	2175	+			558					Q9UD87	Missense_Mutation	SNP	ENST00000376261.3	37	c.1672C>T	CCDS7149.1	.	.	.	.	.	.	.	.	.	.	C	23.1	4.378046	0.82682	.	.	ENSG00000136750	ENST00000376261;ENST00000259271	T;T	0.69926	-0.44;-0.44	5.71	5.71	0.89125	Pyridoxal phosphate-dependent transferase, major region, subdomain 2 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.049815	0.85682	D	0.000000	D	0.87748	0.6255	H	0.94264	3.515	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.90484	0.4462	10	0.87932	D	0	-16.611	19.8579	0.96771	0.0:1.0:0.0:0.0	.	558	Q05329	DCE2_HUMAN	C	558	ENSP00000365437:R558C;ENSP00000259271:R558C	ENSP00000259271:R558C	R	+	1	0	GAD2	26629810	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.444000	0.60001	2.687000	0.91594	0.655000	0.94253	CGC		0.468	GAD2-001	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047255.1	NM_000818		24	88	0	0	0	1	0	24	88					T	26589804	C	T	26589804	3	4	435	1	0	0	0	0	1	0	0	0	6180	652	23	2	1734	2	GAD2	10	26589804	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	27183	26589804	108944943	4624	25549											
APBB1IP	54518	broad.mit.edu	37	chr10	26856412	26856412	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaagaagagaggcaacgtgTcctagggacgggcatgatga	15	5	15	6	2	0	4	0	2	0	2	1	6	1	5	1	3	1	2	1	3	5	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:26856412T>A	ENST00000376236.4	+	15	2451	c.1996T>A	c.(1996-1998)Tcc>Acc	p.S666T		NM_019043.3	NP_061916.3	Q7Z5R6	AB1IP_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 1 interacting protein	666					blood coagulation (GO:0007596)|platelet activation (GO:0030168)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|plasma membrane (GO:0005886)				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(27)|skin(7)|upper_aerodigestive_tract(1)	45						AGGCAACGTGTCCTAGGGACG	0.552																																						ENST00000376236.4																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(27)|skin(7)|upper_aerodigestive_tract(1)	45						c.(1996-1998)Tcc>Acc		amyloid beta (A4) precursor protein-binding, family B, member 1 interacting protein							51	48	49					10																	26856412		2203	4300	6503	SO:0001583	missense	54518				blood coagulation|signal transduction	cytoskeleton|cytosol|focal adhesion|lamellipodium		g.chr10:26856412T>A	AB085852	CCDS31167.1	10p12.1	2013-01-10			ENSG00000077420	ENSG00000077420		"Pleckstrin homology (PH) domain containing"	17379	protein-coding gene	gene with protein product	"Rap1-GTP-interacting adaptor molecule"	609036				9407065	Standard	NM_019043		Approved	INAG1, RIAM	uc001iss.3	Q7Z5R6	OTTHUMG00000017841	ENST00000376236.4:c.1996T>A	10.37:g.26856412T>A	ENSP00000365411:p.Ser666Thr						p.S666T	NM_019043.3	NP_061916.3	Q7Z5R6	AB1IP_HUMAN			15	2451	+			666					Q8IWS8|Q8IYL7|Q8IZZ7	Missense_Mutation	SNP	ENST00000376236.4	37	c.1996T>A	CCDS31167.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	14.82|14.82	2.648861|2.648861	0.47362|0.47362	.|.	.|.	ENSG00000077420|ENSG00000077420	ENST00000376236|ENST00000445780	T|.	0.34072|.	1.38|.	5.36|5.36	-5.97|-5.97	0.02227|0.02227	.|.	0.779066|.	0.12086|.	N|.	0.500868|.	T|T	0.43277|0.43277	0.1240|0.1240	L|L	0.46741|0.46741	1.465|1.465	0.34053|0.34053	D|D	0.656372|0.656372	B|.	0.13145|.	0.007|.	B|.	0.08055|.	0.003|.	T|T	0.53521|0.53521	-0.8427|-0.8427	10|6	0.66056|0.87932	D|D	0.02|0	.|.	2.9154|2.9154	0.05751|0.05751	0.1116:0.3232:0.3425:0.2227|0.1116:0.3232:0.3425:0.2227	.|.	666|.	Q7Z5R6|.	AB1IP_HUMAN|.	T|D	666|609	ENSP00000365411:S666T|.	ENSP00000365411:S666T|ENSP00000412699:V609D	S|V	+|+	1|2	0|0	APBB1IP|APBB1IP	26896418|26896418	0.001000|0.001000	0.12720|0.12720	0.001000|0.001000	0.08648|0.08648	0.021000|0.021000	0.10359|0.10359	-0.382000|-0.382000	0.07408|0.07408	-1.540000|-1.540000	0.01730|0.01730	0.533000|0.533000	0.62120|0.62120	TCC|GTC		0.552	APBB1IP-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047270.1	NM_019043		12	7	0	0	0	1	0	12	7					A	26856412	T	A	26856412	3	1	435	1	0	0	0	0	1	0	0	0	760	1667	58	5	2046	5	APBB1IP	10	26856412	Missense_Mutation	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	266608	26856412	108678335	4625	25550											
ABI1	10006	broad.mit.edu	37	chr10	27048050	27048050	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgagcagaaaattgagcaGtcacagagggagttcgtctg	12	8	14	7	1	2	4	1	2	1	2	3	5	2	5	0	1	2	4	0	1	2	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:27048050G>A	ENST00000376142.2	-	9	1090	c.1019C>T	c.(1018-1020)aCt>aTt	p.T340I	ABI1_ENST00000490841.2_Intron|ABI1_ENST00000355394.4_Missense_Mutation_p.T341I|ABI1_ENST00000376138.3_Missense_Mutation_p.T313I|ABI1_ENST00000359188.4_Missense_Mutation_p.T312I|ABI1_ENST00000376170.4_Missense_Mutation_p.T312I|ABI1_ENST00000376137.4_Intron|ABI1_ENST00000376140.3_Missense_Mutation_p.T313I|ABI1_ENST00000376134.3_Missense_Mutation_p.T314I|ABI1_ENST00000376139.2_Missense_Mutation_p.T308I|ABI1_ENST00000346832.5_Missense_Mutation_p.T357I|ABI1_ENST00000376166.1_Missense_Mutation_p.T307I|ABI1_ENST00000376160.1_Missense_Mutation_p.T307I|ABI1_ENST00000536334.1_Intron	NM_005470.3	NP_005461.2	Q8IZP0	ABI1_HUMAN	abl-interactor 1	340	Pro-rich.				actin polymerization or depolymerization (GO:0008154)|cellular component movement (GO:0006928)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|lamellipodium morphogenesis (GO:0072673)|megakaryocyte development (GO:0035855)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine phosphorylation (GO:0018108)|somitogenesis (GO:0001756)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell junction (GO:0030054)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|intracellular (GO:0005622)|lamellipodium (GO:0030027)|neuron projection (GO:0043005)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|SCAR complex (GO:0031209)	cytoskeletal protein binding (GO:0008092)|protein complex binding (GO:0032403)|protein tyrosine kinase activator activity (GO:0030296)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(9)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						AAATTGAGCAGTCACAGAGGG	0.463																																						ENST00000355394.4																			0				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(9)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						c.(1021-1023)aCt>aTt		abl-interactor 1							155	141	146					10																	27048050		2203	4300	6503	SO:0001583	missense	10006				actin polymerization or depolymerization|cellular component movement|negative regulation of cell proliferation|peptidyl-tyrosine phosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	cell junction|cytoskeleton|cytosol|endoplasmic reticulum|filopodium|growth cone|lamellipodium|nucleus|soluble fraction|synapse|synaptosome	cytoskeletal protein binding	g.chr10:27048050G>A	U87166	CCDS7150.1, CCDS31169.1, CCDS31170.1, CCDS31171.1, CCDS53497.1, CCDS53498.1, CCDS53499.1, CCDS53500.1, CCDS53501.1, CCDS73077.1, CCDS73078.1	10p12.1	2009-05-29	2004-03-17	2004-03-19	ENSG00000136754	ENSG00000136754			11320	protein-coding gene	gene with protein product		603050	"spectrin SH3 domain binding protein 1"	SSH3BP1		9593709, 9010225	Standard	NM_005470		Approved	E3B1, ABI-1	uc001isx.3	Q8IZP0	OTTHUMG00000017848	ENST00000376142.2:c.1019C>T	10.37:g.27048050G>A	ENSP00000365312:p.Thr340Ile					ABI1_ENST00000536334.1_Intron|ABI1_ENST00000490841.2_Intron|ABI1_ENST00000376170.4_Missense_Mutation_p.T312I|ABI1_ENST00000376134.3_Missense_Mutation_p.T314I|ABI1_ENST00000359188.4_Missense_Mutation_p.T312I|ABI1_ENST00000376138.3_Missense_Mutation_p.T313I|ABI1_ENST00000376139.2_Missense_Mutation_p.T308I|ABI1_ENST00000346832.5_Missense_Mutation_p.T357I|ABI1_ENST00000376137.4_Intron|ABI1_ENST00000376160.1_Missense_Mutation_p.T307I|ABI1_ENST00000376142.2_Missense_Mutation_p.T340I|ABI1_ENST00000376166.1_Missense_Mutation_p.T307I|ABI1_ENST00000376140.3_Missense_Mutation_p.T313I	p.T341I			Q8IZP0	ABI1_HUMAN			9	1245	-			340			Pro-rich.		A9Z1Y6|B3KX62|B4DQ58|H7BXI6|O15147|O76049|O95060|Q5T2R3|Q5T2R4|Q5T2R6|Q5T2R7|Q5T2R9|Q5W070|Q5W072|Q8TB63|Q96S81|Q9NXZ9|Q9NYB8	Missense_Mutation	SNP	ENST00000376142.2	37	c.1022C>T	CCDS7150.1	.	.	.	.	.	.	.	.	.	.	G	24.4	4.522925	0.85600	.	.	ENSG00000136754	ENST00000376138;ENST00000376170;ENST00000376166;ENST00000376160;ENST00000376142;ENST00000359188;ENST00000376139;ENST00000355394;ENST00000346832;ENST00000376134;ENST00000376140	T;T;T;T;T;T;T;T;T;T;T	0.42513	1.14;1.17;1.18;1.07;1.01;1.07;1.07;1.11;1.15;0.97;1.07	5.67	4.77	0.60923	.	0.150356	0.64402	D	0.000012	T	0.51975	0.1706	L	0.42245	1.32	0.80722	D	1	D;D;P;P;P;D;P;P;P	0.60160	0.977;0.961;0.951;0.821;0.586;0.987;0.821;0.821;0.871	P;P;P;B;B;P;B;P;B	0.58660	0.756;0.653;0.503;0.415;0.342;0.843;0.415;0.471;0.424	T	0.54351	-0.8307	10	0.59425	D	0.04	-8.1553	14.7856	0.69800	0.0694:0.0:0.9305:0.0	.	179;307;337;312;357;313;308;313;340	B4DKX2;Q5T2R9;Q59G41;Q8IZP0-6;B3KX62;Q8IZP0-3;Q8IZP0-5;Q8IZP0-9;Q8IZP0	.;.;.;.;.;.;.;.;ABI1_HUMAN	I	313;312;307;307;340;312;308;341;357;314;313	ENSP00000365308:T313I;ENSP00000365340:T312I;ENSP00000365336:T307I;ENSP00000365330:T307I;ENSP00000365312:T340I;ENSP00000352114:T312I;ENSP00000365309:T308I;ENSP00000347555:T341I;ENSP00000279599:T357I;ENSP00000365304:T314I;ENSP00000365310:T313I	ENSP00000279599:T357I	T	-	2	0	ABI1	27088056	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	9.845000	0.99498	1.402000	0.46780	0.591000	0.81541	ACT		0.463	ABI1-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000047287.1	NM_005470		29	29	0	0	0	1	0	29	29					A	27048050	G	A	27048050	3	1	435	1	0	0	0	0	1	0	0	0	88	1029	36	3	523	3	ABI1	10	27048050	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	191638	27048050	108486697	4626	25551											
ANKRD26	22852	broad.mit.edu	37	chr10	27326939	27326939	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccctaattttttcatacaacGtatcagcatttcttctcttc	9	18	2	12	1	4	0	2	0	2	0	6	0	4	0	1	0	3	2	1	0	4	9			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:27326939G>A	ENST00000376087.4	-	22	2585	c.2420C>T	c.(2419-2421)aCg>aTg	p.T807M	ANKRD26_ENST00000436985.2_Missense_Mutation_p.T823M|ANKRD26_ENST00000376070.3_Missense_Mutation_p.T364M	NM_001256053.1|NM_014915.2	NP_001242982.1|NP_055730.2	Q9UPS8	ANR26_HUMAN	ankyrin repeat domain 26	806					glucose homeostasis (GO:0042593)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of organ growth (GO:0046621)|regulation of fatty acid metabolic process (GO:0019217)|regulation of feeding behavior (GO:0060259)	actin filament (GO:0005884)|centrosome (GO:0005813)		p.T807M(1)		breast(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|urinary_tract(2)	70						TTCATACAACGTATCAGCATT	0.308																																						ENST00000376087.4																			1	Substitution - Missense(1)	p.T807M(1)	large_intestine(1)	breast(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|urinary_tract(2)	70						c.(2419-2421)aCg>aTg		ankyrin repeat domain 26							138	120	126					10																	27326939		1822	4073	5895	SO:0001583	missense	22852					centrosome		g.chr10:27326939G>A	AB028997	CCDS41499.1	10p12.1	2014-09-17			ENSG00000107890	ENSG00000107890		"Ankyrin repeat domain containing"	29186	protein-coding gene	gene with protein product		610855	"thrombocytopenia 2 (autosomal dominant)"	THC2		10470851, 21211618	Standard	NM_014915		Approved	KIAA1074	uc009xku.1	Q9UPS8	OTTHUMG00000017851	ENST00000376087.4:c.2420C>T	10.37:g.27326939G>A	ENSP00000365255:p.Thr807Met					ANKRD26_ENST00000376070.3_Missense_Mutation_p.T364M|ANKRD26_ENST00000436985.2_Missense_Mutation_p.T823M	p.T807M	NM_001256053.1|NM_014915.2	NP_001242982.1|NP_055730.2	Q9UPS8	ANR26_HUMAN			22	2585	-			806					A6NH29|Q2TAZ3|Q6ZR14|Q9H1Q1|Q9NSK9|Q9NTD5|Q9NW69	Missense_Mutation	SNP	ENST00000376087.4	37	c.2420C>T	CCDS41499.1	.	.	.	.	.	.	.	.	.	.	A	5.266	0.234578	0.09969	.	.	ENSG00000107890	ENST00000376070;ENST00000376087;ENST00000436985	T;T;T	0.13538	2.58;2.58;2.58	5.15	0.378	0.16204	.	0.565570	0.15742	N	0.246867	T	0.01976	0.0062	N	0.00170	-1.935	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.41770	-0.9490	10	0.02654	T	1	.	5.7529	0.18156	0.441:0.0:0.0757:0.4832	.	807;806;823	Q9UPS8-3;Q9UPS8;A1L497	.;ANR26_HUMAN;.	M	364;807;823	ENSP00000365238:T364M;ENSP00000365255:T807M;ENSP00000405112:T823M	ENSP00000365238:T364M	T	-	2	0	ANKRD26	27366945	0.168000	0.22989	0.000000	0.03702	0.986000	0.74619	1.042000	0.30303	-0.460000	0.07003	-0.352000	0.07741	ACG		0.308	ANKRD26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047296.1			27	26	0	0	0	1	0	27	26					A	27326939	G	A	27326939	3	1	435	1	0	0	0	0	1	0	0	0	654	1145	40	1	2764	1	ANKRD26	10	27326939	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	278889	27326939	108207808	4627	25552											
ANKRD26	22852	broad.mit.edu	37	chr10	27349345	27349345	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aatctttcatttcaatggtaGgctgaatgggttttgaaaca	12	15	9	5	0	3	2	2	2	1	0	3	2	3	2	0	3	1	3	0	3	5	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:27349345G>T	ENST00000376087.4	-	15	1658	c.1493C>A	c.(1492-1494)cCt>cAt	p.P498H	ANKRD26_ENST00000436985.2_Splice_Site_p.P514H	NM_001256053.1|NM_014915.2	NP_001242982.1|NP_055730.2	Q9UPS8	ANR26_HUMAN	ankyrin repeat domain 26	498					glucose homeostasis (GO:0042593)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of organ growth (GO:0046621)|regulation of fatty acid metabolic process (GO:0019217)|regulation of feeding behavior (GO:0060259)	actin filament (GO:0005884)|centrosome (GO:0005813)				breast(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|urinary_tract(2)	70						TTCAATGGTAGGCTGAATGGG	0.269																																						ENST00000376087.4																			0				breast(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|urinary_tract(2)	70						c.e15-1		ankyrin repeat domain 26							95	92	93					10																	27349345		1796	4065	5861	SO:0001630	splice_region_variant	22852					centrosome		g.chr10:27349345G>T	AB028997	CCDS41499.1	10p12.1	2014-09-17			ENSG00000107890	ENSG00000107890		"Ankyrin repeat domain containing"	29186	protein-coding gene	gene with protein product		610855	"thrombocytopenia 2 (autosomal dominant)"	THC2		10470851, 21211618	Standard	NM_014915		Approved	KIAA1074	uc009xku.1	Q9UPS8	OTTHUMG00000017851	ENST00000376087.4:c.1492-1C>A	10.37:g.27349345G>T						ANKRD26_ENST00000436985.2_Splice_Site_p.P514_splice	p.P498_splice	NM_001256053.1|NM_014915.2	NP_001242982.1|NP_055730.2	Q9UPS8	ANR26_HUMAN			15	1658	-			498					A6NH29|Q2TAZ3|Q6ZR14|Q9H1Q1|Q9NSK9|Q9NTD5|Q9NW69	Splice_Site	SNP	ENST00000376087.4	37	c.1491_splice	CCDS41499.1	.	.	.	.	.	.	.	.	.	.	G	15.53	2.859786	0.51376	.	.	ENSG00000107890	ENST00000376087;ENST00000436985	T;T	0.45276	1.21;0.9	4.89	4.89	0.63831	.	0.468978	0.15301	U	0.269618	T	0.63733	0.2536	M	0.71036	2.16	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.973;0.94;0.997	T	0.65298	-0.6202	10	0.72032	D	0.01	.	13.5535	0.61747	0.0:0.0:1.0:0.0	.	498;498;514	Q9UPS8-3;Q9UPS8;A1L497	.;ANR26_HUMAN;.	H	498;514	ENSP00000365255:P498H;ENSP00000405112:P514H	ENSP00000365255:P498H	P	-	2	0	ANKRD26	27389351	0.003000	0.15002	0.263000	0.24496	0.795000	0.44927	1.346000	0.33964	2.257000	0.74773	0.313000	0.20887	CCT		0.269	ANKRD26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047296.1		Missense_Mutation	39	83	1	0	1.49673e-21	1	1.66298e-21	39	83					T	27349345	G	T	27349345	5	4	435	1	0	0	0	0	0	0	1	0	654	1014	35	5	3719	5	ANKRD26	10	27349345	Splice_Site	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	22406	27349345	108185402	4628	25553											
ANKRD26	22852	broad.mit.edu	37	chr10	27368073	27368073	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	taggccatgaatcatcaacaCccggtttgccagaaagcctt	12	9	8	12	1	2	2	2	1	0	1	2	2	2	2	4	2	3	1	4	2	4	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:27368073C>T	ENST00000376087.4	-	7	923	c.758G>A	c.(757-759)gGt>gAt	p.G253D	ANKRD26_ENST00000436985.2_Missense_Mutation_p.G302D|ANKRD26_ENST00000466890.1_5'UTR	NM_001256053.1|NM_014915.2	NP_001242982.1|NP_055730.2	Q9UPS8	ANR26_HUMAN	ankyrin repeat domain 26	253					glucose homeostasis (GO:0042593)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of organ growth (GO:0046621)|regulation of fatty acid metabolic process (GO:0019217)|regulation of feeding behavior (GO:0060259)	actin filament (GO:0005884)|centrosome (GO:0005813)				breast(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|urinary_tract(2)	70						ATCATCAACACCCGGTTTGCC	0.338																																						ENST00000376087.4																			0				breast(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|urinary_tract(2)	70						c.(757-759)gGt>gAt		ankyrin repeat domain 26							101	94	96					10																	27368073		1834	4079	5913	SO:0001583	missense	22852					centrosome		g.chr10:27368073C>T	AB028997	CCDS41499.1	10p12.1	2014-09-17			ENSG00000107890	ENSG00000107890		"Ankyrin repeat domain containing"	29186	protein-coding gene	gene with protein product		610855	"thrombocytopenia 2 (autosomal dominant)"	THC2		10470851, 21211618	Standard	NM_014915		Approved	KIAA1074	uc009xku.1	Q9UPS8	OTTHUMG00000017851	ENST00000376087.4:c.758G>A	10.37:g.27368073C>T	ENSP00000365255:p.Gly253Asp					ANKRD26_ENST00000436985.2_Missense_Mutation_p.G302D|ANKRD26_ENST00000466890.1_5'UTR	p.G253D	NM_001256053.1|NM_014915.2	NP_001242982.1|NP_055730.2	Q9UPS8	ANR26_HUMAN			7	923	-			253					A6NH29|Q2TAZ3|Q6ZR14|Q9H1Q1|Q9NSK9|Q9NTD5|Q9NW69	Missense_Mutation	SNP	ENST00000376087.4	37	c.758G>A	CCDS41499.1	.	.	.	.	.	.	.	.	.	.	C	9.574	1.121678	0.20877	.	.	ENSG00000107890	ENST00000376087;ENST00000436985	T;T	0.36878	4.34;1.23	5.22	-0.469	0.12142	.	.	.	.	.	T	0.17916	0.0430	N	0.13235	0.315	0.09310	N	1	B;B	0.12013	0.005;0.003	B;B	0.08055	0.003;0.001	T	0.31194	-0.9952	9	0.15066	T	0.55	.	8.0796	0.30737	0.0:0.4295:0.0:0.5705	.	253;253	Q9UPS8-3;Q9UPS8	.;ANR26_HUMAN	D	253;302	ENSP00000365255:G253D;ENSP00000405112:G302D	ENSP00000365255:G253D	G	-	2	0	ANKRD26	27408079	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-1.212000	0.02994	-0.409000	0.07553	0.591000	0.81541	GGT		0.338	ANKRD26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047296.1			28	47	0	0	0	1	0	28	47					T	27368073	C	T	27368073	3	4	435	1	0	0	0	0	1	0	0	0	654	507	18	3	4486	3	ANKRD26	10	27368073	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	18728	27368073	108166674	4629	25554											
YME1L1	10730	broad.mit.edu	37	chr10	27411890	27411890	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atataacacaaggagcattcGcctttgcttcccctaagaaa	14	10	6	11	1	0	1	0	0	0	1	2	2	1	2	3	1	3	2	3	1	5	6			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:27411890G>A	ENST00000326799.3	-	12	1434	c.1286C>T	c.(1285-1287)gCg>gTg	p.A429V	YME1L1_ENST00000463270.1_5'Flank|YME1L1_ENST00000375972.3_Missense_Mutation_p.A339V|YME1L1_ENST00000376016.3_Missense_Mutation_p.A372V	NM_139312.2	NP_647473.1	Q96TA2	YMEL1_HUMAN	YME1-like 1 ATPase	429					cell proliferation (GO:0008283)|misfolded or incompletely synthesized protein catabolic process (GO:0006515)|mitochondrion organization (GO:0007005)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	23						AGGAGCATTCGCCTTTGCTTC	0.328																																						ENST00000326799.3																			0				breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	23						c.(1285-1287)gCg>gTg		YME1-like 1 ATPase							92	91	92					10																	27411890		2203	4300	6503	SO:0001583	missense	10730				protein catabolic process|proteolysis	membrane|mitochondrion	ATP binding|metal ion binding|metalloendopeptidase activity|nucleoside-triphosphatase activity	g.chr10:27411890G>A	AJ132637	CCDS7151.1, CCDS7152.1, CCDS58072.1	10p14	2013-06-10	2013-06-10		ENSG00000136758	ENSG00000136758		"ATPases / AAA-type"	12843	protein-coding gene	gene with protein product		607472	"YME1 (S.cerevisiae)-like 1", "YME1-like 1 (S. cerevisiae)"			22262461	Standard	NM_139312		Approved		uc001itj.3	Q96TA2	OTTHUMG00000017853	ENST00000326799.3:c.1286C>T	10.37:g.27411890G>A	ENSP00000318480:p.Ala429Val					YME1L1_ENST00000375972.3_Missense_Mutation_p.A339V|YME1L1_ENST00000376016.3_Missense_Mutation_p.A372V	p.A429V	NM_139312.2	NP_647473.1	Q96TA2	YMEL1_HUMAN			12	1434	-			429					B4DNM1|D3DRV8|D3DRV9|Q5T8D9|Q9H1Q0|Q9UMR9	Missense_Mutation	SNP	ENST00000326799.3	37	c.1286C>T	CCDS7152.1	.	.	.	.	.	.	.	.	.	.	G	32	5.132346	0.94473	.	.	ENSG00000136758	ENST00000376016;ENST00000326799;ENST00000375969;ENST00000375972;ENST00000546122	D;D;D	0.93076	-3.16;-3.16;-3.16	5.91	5.91	0.95273	ATPase, AAA-type, core (1);ATPase, AAA+ type, core (1);Peptidase M41, FtsH (2);	0.271326	0.39909	N	0.001224	D	0.91556	0.7333	L	0.31207	0.915	0.80722	D	1	P;P;D	0.55800	0.936;0.874;0.973	P;B;P	0.49276	0.598;0.355;0.605	D	0.92318	0.5863	10	0.72032	D	0.01	-14.0279	15.7461	0.77944	0.0:0.1357:0.8643:0.0	.	339;372;429	B4DNM1;Q96TA2-2;Q96TA2	.;.;YMEL1_HUMAN	V	372;429;429;339;175	ENSP00000365184:A372V;ENSP00000318480:A429V;ENSP00000365139:A339V	ENSP00000318480:A429V	A	-	2	0	YME1L1	27451896	1.000000	0.71417	1.000000	0.80357	0.882000	0.50991	4.669000	0.61575	2.804000	0.96469	0.650000	0.86243	GCG		0.328	YME1L1-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000047306.1	NM_139312		50	71	0	0	0	1	0	50	71					A	27411890	G	A	27411890	3	1	435	1	0	0	0	0	1	0	0	0	17484	1087	38	1	1071	1	YME1L1	10	27411890	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	43817	27411890	108122857	4630	25555											
YME1L1	10730	broad.mit.edu	37	chr10	27423040	27423040	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagagaatcagacgggttcGccttagggaatctaggagag	13	7	15	6	2	2	3	1	0	1	3	3	7	2	4	1	3	0	1	1	3	5	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:27423040G>A	ENST00000326799.3	-	8	1022	c.874C>T	c.(874-876)Cga>Tga	p.R292*	YME1L1_ENST00000463270.1_5'UTR|YME1L1_ENST00000375972.3_Nonsense_Mutation_p.R202*|YME1L1_ENST00000376016.3_Nonsense_Mutation_p.R235*	NM_139312.2	NP_647473.1	Q96TA2	YMEL1_HUMAN	YME1-like 1 ATPase	292					cell proliferation (GO:0008283)|misfolded or incompletely synthesized protein catabolic process (GO:0006515)|mitochondrion organization (GO:0007005)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	23						AGACGGGTTCGCCTTAGGGAA	0.323																																						ENST00000326799.3																			0				breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	23						c.(874-876)Cga>Tga		YME1-like 1 ATPase							39	43	42					10																	27423040		2203	4300	6503	SO:0001587	stop_gained	10730				protein catabolic process|proteolysis	membrane|mitochondrion	ATP binding|metal ion binding|metalloendopeptidase activity|nucleoside-triphosphatase activity	g.chr10:27423040G>A	AJ132637	CCDS7151.1, CCDS7152.1, CCDS58072.1	10p14	2013-06-10	2013-06-10		ENSG00000136758	ENSG00000136758		"ATPases / AAA-type"	12843	protein-coding gene	gene with protein product		607472	"YME1 (S.cerevisiae)-like 1", "YME1-like 1 (S. cerevisiae)"			22262461	Standard	NM_139312		Approved		uc001itj.3	Q96TA2	OTTHUMG00000017853	ENST00000326799.3:c.874C>T	10.37:g.27423040G>A	ENSP00000318480:p.Arg292*					YME1L1_ENST00000375972.3_Nonsense_Mutation_p.R202*|YME1L1_ENST00000376016.3_Nonsense_Mutation_p.R235*|YME1L1_ENST00000463270.1_5'UTR	p.R292*	NM_139312.2	NP_647473.1	Q96TA2	YMEL1_HUMAN			8	1022	-			292					B4DNM1|D3DRV8|D3DRV9|Q5T8D9|Q9H1Q0|Q9UMR9	Nonsense_Mutation	SNP	ENST00000326799.3	37	c.874C>T	CCDS7152.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.145761	0.77888	.	.	ENSG00000136758	ENST00000376016;ENST00000326799;ENST00000375969;ENST00000375972;ENST00000546122;ENST00000427324;ENST00000396296	.	.	.	5.25	2.23	0.28157	.	0.049283	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.24483	T	0.36	-11.6733	8.694	0.34284	0.0729:0.0:0.4252:0.502	.	.	.	.	X	235;292;292;202;38;202;227	.	ENSP00000318480:R292X	R	-	1	2	YME1L1	27463046	1.000000	0.71417	1.000000	0.80357	0.503000	0.33858	2.919000	0.48836	0.602000	0.29896	-0.350000	0.07774	CGA		0.323	YME1L1-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000047306.1	NM_139312		16	15	0	0	0	1	0	16	15					A	27423040	G	A	27423040	4	1	435	1	0	0	0	0	0	1	0	0	17484	1095	38	1	1499	1	YME1L1	10	27423040	Nonsense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	11150	27423040	108111707	4631	25556											
MKX	283078	broad.mit.edu	37	chr10	27964290	27964290	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tttgttaaggccatagctgcGttgatctccttccaatacgt	8	15	8	10	2	1	1	0	1	1	0	3	1	2	1	3	1	3	3	3	1	4	6	rs549642340		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:27964290G>A	ENST00000375790.5	-	7	1359	c.927C>T	c.(925-927)aaC>aaT	p.N309N	MKX_ENST00000419761.1_Silent_p.N309N			Q8IYA7	MKX_HUMAN	mohawk homeobox	309					collagen fibril organization (GO:0030199)|muscle organ development (GO:0007517)|negative regulation of myoblast differentiation (GO:0045662)|positive regulation of collagen biosynthetic process (GO:0032967)|tendon cell differentiation (GO:0035990)|tendon sheath development (GO:0002932)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(2)|skin(2)	16						CCATAGCTGCGTTGATCTCCT	0.453													G|||	1	0.000199681	0	0	5008	,	,		18253	0		0	False		,,,				2504	0.001					ENST00000375790.5																			0				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(2)|skin(2)	16						c.(925-927)aaC>aaT		mohawk homeobox							270	237	248					10																	27964290		2203	4300	6503	SO:0001819	synonymous_variant	283078				muscle organ development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr10:27964290G>A	BC036207	CCDS7156.1	10p12.1	2011-06-20	2006-03-31	2006-03-31	ENSG00000150051	ENSG00000150051		"Homeoboxes / TALE class"	23729	protein-coding gene	gene with protein product		601332	"chromosome 10 open reading frame 48", "iroquois homeobox protein-like 1"	C10orf48, IRXL1		16408284	Standard	NM_173576		Approved	MGC39616	uc001itx.4	Q8IYA7	OTTHUMG00000017862	ENST00000375790.5:c.927C>T	10.37:g.27964290G>A						MKX_ENST00000419761.1_Silent_p.N309N	p.N309N			Q8IYA7	MKX_HUMAN			7	1359	-			309					B3KWM5	Silent	SNP	ENST00000375790.5	37	c.927C>T	CCDS7156.1																																																																																				0.453	MKX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047332.3	NM_173576		46	75	0	0	0	1	0	46	75					A	27964290	G	A	27964290	2	1	435	1	0	0	0	0	0	0	0	1	9610	1136	40	1		1	MKX	10	27964290	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	541250	27964290	107570457	4632	25557											
MKX	283078	broad.mit.edu	37	chr10	28023550	28023550	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caaagagtcattaaggtaacGgttcaacaagctgctcttgt	13	11	9	8	1	3	1	2	0	1	1	3	1	3	1	0	2	4	4	0	2	5	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:28023550G>A	ENST00000375790.5	-	5	1105	c.673C>T	c.(673-675)Cgt>Tgt	p.R225C	MKX_ENST00000419761.1_Missense_Mutation_p.R225C			Q8IYA7	MKX_HUMAN	mohawk homeobox	225					collagen fibril organization (GO:0030199)|muscle organ development (GO:0007517)|negative regulation of myoblast differentiation (GO:0045662)|positive regulation of collagen biosynthetic process (GO:0032967)|tendon cell differentiation (GO:0035990)|tendon sheath development (GO:0002932)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(2)|skin(2)	16						TTAAGGTAACGGTTCAACAAG	0.483																																						ENST00000375790.5																			0				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(2)|skin(2)	16						c.(673-675)Cgt>Tgt		mohawk homeobox							184	174	178					10																	28023550		2203	4300	6503	SO:0001583	missense	283078				muscle organ development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr10:28023550G>A	BC036207	CCDS7156.1	10p12.1	2011-06-20	2006-03-31	2006-03-31	ENSG00000150051	ENSG00000150051		"Homeoboxes / TALE class"	23729	protein-coding gene	gene with protein product		601332	"chromosome 10 open reading frame 48", "iroquois homeobox protein-like 1"	C10orf48, IRXL1		16408284	Standard	NM_173576		Approved	MGC39616	uc001itx.4	Q8IYA7	OTTHUMG00000017862	ENST00000375790.5:c.673C>T	10.37:g.28023550G>A	ENSP00000364946:p.Arg225Cys					MKX_ENST00000419761.1_Missense_Mutation_p.R225C	p.R225C			Q8IYA7	MKX_HUMAN			5	1105	-			225					B3KWM5	Missense_Mutation	SNP	ENST00000375790.5	37	c.673C>T	CCDS7156.1	.	.	.	.	.	.	.	.	.	.	G	28.8	4.949520	0.92660	.	.	ENSG00000150051	ENST00000375790;ENST00000419761	T;T	0.73363	-0.74;-0.74	5.56	5.56	0.83823	.	0.049061	0.85682	D	0.000000	D	0.84831	0.5559	M	0.63843	1.955	0.80722	D	1	D	0.89917	1.0	D	0.66716	0.946	D	0.85799	0.1372	10	0.87932	D	0	-10.0549	19.5918	0.95518	0.0:0.0:1.0:0.0	.	225	Q8IYA7	MKX_HUMAN	C	225	ENSP00000364946:R225C;ENSP00000400896:R225C	ENSP00000364946:R225C	R	-	1	0	MKX	28063556	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.804000	0.99143	2.626000	0.88956	0.558000	0.71614	CGT		0.483	MKX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047332.3	NM_173576		26	48	0	0	0	1	0	26	48					A	28023550	G	A	28023550	3	1	435	1	0	0	0	0	1	0	0	0	9610	1116	39	2	397	2	MKX	10	28023550	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	59260	28023550	107511197	4633	25558											
ARMC4	55130	broad.mit.edu	37	chr10	28229592	28229592	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gaggaatgcccccagctttgCggatggcttctttattcgta	7	13	11	10	2	1	0	0	0	1	0	2	3	1	2	2	3	3	3	2	3	3	6	rs200127444		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:28229592C>T	ENST00000305242.5	-	13	1978	c.1886G>A	c.(1885-1887)cGc>cAc	p.R629H	ARMC4_ENST00000537576.1_Missense_Mutation_p.R321H|ARMC4_ENST00000545014.1_Missense_Mutation_p.R154H	NM_018076.2	NP_060546.2	Q5T2S8	ARMC4_HUMAN	armadillo repeat containing 4	629					cell projection organization (GO:0030030)|cilium movement (GO:0003341)|left/right axis specification (GO:0070986)|outer dynein arm assembly (GO:0036158)|ventricular system development (GO:0021591)	axoneme (GO:0005930)|ciliary base (GO:0097546)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)		p.R629H(1)		NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3)	75						CCCAGCTTTGCGGATGGCTTC	0.532																																						ENST00000305242.5																			1	Substitution - Missense(1)	p.R629H(1)	endometrium(1)	NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3)	75						c.(1885-1887)cGc>cAc		armadillo repeat containing 4							119	108	112					10																	28229592		2203	4300	6503	SO:0001583	missense	55130						binding	g.chr10:28229592C>T	AL136859	CCDS7157.1	10p12.1-p11.23	2014-02-03			ENSG00000169126	ENSG00000169126		"Armadillo repeat containing"	25583	protein-coding gene	gene with protein product		615408				11230166	Standard	XM_005252485		Approved	FLJ10817, FLJ10376, DKFZP434P1735, CILD23	uc001itz.3	Q5T2S8	OTTHUMG00000017867	ENST00000305242.5:c.1886G>A	10.37:g.28229592C>T	ENSP00000306410:p.Arg629His					ARMC4_ENST00000545014.1_Missense_Mutation_p.R154H|ARMC4_ENST00000537576.1_Missense_Mutation_p.R321H	p.R629H	NM_018076.2	NP_060546.2	Q5T2S8	ARMC4_HUMAN			13	1978	-			629					A8K906|B7Z7I1|Q9H0C0	Missense_Mutation	SNP	ENST00000305242.5	37	c.1886G>A	CCDS7157.1	.	.	.	.	.	.	.	.	.	.	C	14.67	2.603979	0.46423	.	.	ENSG00000169126	ENST00000537576;ENST00000305242;ENST00000545014	T;T;T	0.70164	-0.46;-0.46;-0.46	5.24	4.3	0.51218	Armadillo-like helical (1);Armadillo-type fold (2);	0.199089	0.53938	D	0.000049	T	0.78729	0.4329	M	0.87456	2.885	0.80722	D	1	P;D	0.62365	0.766;0.991	B;P	0.55667	0.233;0.781	T	0.79060	-0.1958	10	0.17832	T	0.49	-11.5567	15.7932	0.78384	0.0:0.8632:0.1368:0.0	.	154;629	B7Z7I1;Q5T2S8	.;ARMC4_HUMAN	H	321;629;154	ENSP00000443208:R321H;ENSP00000306410:R629H;ENSP00000441076:R154H	ENSP00000306410:R629H	R	-	2	0	ARMC4	28269598	1.000000	0.71417	0.606000	0.28943	0.017000	0.09413	5.769000	0.68865	1.273000	0.44346	0.655000	0.94253	CGC		0.532	ARMC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047339.1	NM_018076		19	30	0	0	0	1	0	19	30					T	28229592	C	T	28229592	3	4	435	1	0	0	0	0	1	0	0	0	953	768	27	1	1280	1	ARMC4	10	28229592	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	206042	28229592	107305155	4634	25559											
MPP7	143098	broad.mit.edu	37	chr10	28358764	28358764	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttcgtttcagttcattcaGccctactcccacgggacctg	6	13	7	15	2	3	0	3	0	0	0	5	1	4	1	3	1	2	2	3	1	1	5	rs556715750		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:28358764G>A	ENST00000375732.1	-	13	1400	c.1141C>T	c.(1141-1143)Ctg>Ttg	p.L381L	MPP7_ENST00000337532.5_Silent_p.L381L|MPP7_ENST00000540098.1_Silent_p.L381L|MPP7_ENST00000445954.2_Silent_p.L256L|MPP7_ENST00000375719.3_Silent_p.L381L			Q5T2T1	MPP7_HUMAN	membrane protein, palmitoylated 7 (MAGUK p55 subfamily member 7)	381	Guanylate kinase-like. {ECO:0000255|PROSITE-ProRule:PRU00100}.				establishment of cell polarity (GO:0030010)|positive regulation of protein complex assembly (GO:0031334)|positive regulation of signal transduction (GO:0009967)|protein localization to adherens junction (GO:0071896)|tight junction assembly (GO:0070830)	adherens junction (GO:0005912)|cell junction (GO:0030054)|mitochondrion (GO:0005739)|MPP7-DLG1-LIN7 complex (GO:0097025)|tight junction (GO:0005923)	protein complex scaffold (GO:0032947)|protein domain specific binding (GO:0019904)|protein heterodimerization activity (GO:0046982)|signaling adaptor activity (GO:0035591)			autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|stomach(1)	22						AGTTCATTCAGCCCTACTCCC	0.463																																						ENST00000337532.5																			0				autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|stomach(1)	22						c.(1141-1143)Ctg>Ttg		membrane protein, palmitoylated 7 (MAGUK p55 subfamily member 7)							121	86	98					10																	28358764		2203	4300	6503	SO:0001819	synonymous_variant	143098				establishment of cell polarity|positive regulation of protein complex assembly|protein localization to adherens junction|tight junction assembly	MPP7-DLG1-LIN7 complex|tight junction	protein complex scaffold|protein domain specific binding|protein heterodimerization activity|signaling adaptor activity	g.chr10:28358764G>A	BC038105	CCDS7158.1	10p12.1	2004-01-15			ENSG00000150054	ENSG00000150054			26542	protein-coding gene	gene with protein product		610973				14719143	Standard	NM_173496		Approved	FLJ32798	uc001iua.1	Q5T2T1	OTTHUMG00000017868	ENST00000375732.1:c.1141C>T	10.37:g.28358764G>A						MPP7_ENST00000540098.1_Silent_p.L381L|MPP7_ENST00000375719.3_Silent_p.L381L|MPP7_ENST00000375732.1_Silent_p.L381L|MPP7_ENST00000445954.2_Silent_p.L256L	p.L381L	NM_173496.3	NP_775767.2	Q5T2T1	MPP7_HUMAN			14	1417	-			381			Guanylate kinase-like.		B2RCC9|B4DWL9|B5MDZ3|D3DRW3|Q5T2T0|Q8IY28	Silent	SNP	ENST00000375732.1	37	c.1141C>T	CCDS7158.1																																																																																				0.463	MPP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047345.1	NM_173496		10	28	0	0	0	1	0	10	28					A	28358764	G	A	28358764	2	1	435	1	0	0	0	0	0	0	0	1	9739	962	34	3		3	MPP7	10	28358764	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	129172	28358764	107175983	4635	25560											
SVIL	6840	broad.mit.edu	37	chr10	29775373	29775373	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggccacccagaagcttccaGaagtctttggctgcatgagt	9	10	11	11	0	1	3	0	1	1	2	2	3	2	3	3	2	2	3	3	2	2	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:29775373G>T	ENST00000355867.4	-	25	5351	c.4599C>A	c.(4597-4599)ttC>ttA	p.F1533L	PTCHD3P1_ENST00000413405.1_RNA|SVIL_ENST00000535393.1_Missense_Mutation_p.F447L|SVIL_ENST00000375398.2_Missense_Mutation_p.F1533L|SVIL_ENST00000375400.3_Missense_Mutation_p.F1107L|SVIL_ENST00000538146.1_Missense_Mutation_p.F325L|PTCHD3P1_ENST00000414457.1_RNA	NM_021738.2	NP_068506.2	O95425	SVIL_HUMAN	supervillin	1533	Interaction with NEB.				cytoskeleton organization (GO:0007010)|skeletal muscle tissue development (GO:0007519)	actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|costamere (GO:0043034)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112		Breast(68;0.103)				GAAGCTTCCAGAAGTCTTTGG	0.403																																						ENST00000375398.2																			0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112						c.(4597-4599)ttC>ttA		supervillin							164	162	162					10																	29775373		2203	4300	6503	SO:0001583	missense	6840				cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding	g.chr10:29775373G>T	AF051851	CCDS7163.1, CCDS7164.1	10p11.2	2008-07-29			ENSG00000197321	ENSG00000197321			11480	protein-coding gene	gene with protein product	"archvillin"	604126				9382871	Standard	NM_003174		Approved		uc001iut.1	O95425	OTTHUMG00000017882	ENST00000355867.4:c.4599C>A	10.37:g.29775373G>T	ENSP00000348128:p.Phe1533Leu					SVIL_ENST00000538146.1_Missense_Mutation_p.F325L|SVIL_ENST00000375400.3_Missense_Mutation_p.F1107L|SVIL_ENST00000355867.4_Missense_Mutation_p.F1533L|PTCHD3P1_ENST00000413405.1_RNA|SVIL_ENST00000535393.1_Missense_Mutation_p.F447L	p.F1533L			O95425	SVIL_HUMAN			27	5048	-		Breast(68;0.103)	1533			Interaction with NEB.		D3DRW9|M1J557|O60611|O60612|Q5VZK5|Q5VZK6|Q9H1R7	Missense_Mutation	SNP	ENST00000355867.4	37	c.4599C>A	CCDS7164.1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.445425	0.84101	.	.	ENSG00000197321	ENST00000375400;ENST00000375398;ENST00000355867;ENST00000535393;ENST00000535994;ENST00000538146	T;T;T;T;T	0.61392	0.11;0.11;0.11;0.11;0.11	4.96	4.96	0.65561	.	0.000000	0.85682	D	0.000000	T	0.79112	0.4391	M	0.91406	3.205	0.58432	D	0.999996	D;D;D;D	0.69078	0.991;0.997;0.997;0.987	D;D;D;D	0.78314	0.975;0.966;0.991;0.965	T	0.82460	-0.0446	10	0.59425	D	0.04	-24.8809	11.8811	0.52576	0.0795:0.0:0.9205:0.0	.	447;325;1107;1533	F5H2Q5;F5GXV0;O95425-2;O95425	.;.;.;SVIL_HUMAN	L	1107;1533;1533;447;487;325	ENSP00000364549:F1107L;ENSP00000364547:F1533L;ENSP00000348128:F1533L;ENSP00000445472:F447L;ENSP00000440343:F325L	ENSP00000348128:F1533L	F	-	3	2	SVIL	29815379	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.181000	0.50903	2.584000	0.87258	0.556000	0.70494	TTC		0.403	SVIL-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047395.1			54	67	1	0	3.10202e-16	1	3.40411e-16	54	67					T	29775373	G	T	29775373	3	4	435	1	0	0	0	0	1	0	0	0	15418	933	33	5	2101	5	SVIL	10	29775373	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	1416609	29775373	105759374	4636	25561											
SVIL	6840	broad.mit.edu	37	chr10	29819560	29819560	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aaaagcaacctcttggcggcGacgctcagcttggctcgttc	8	9	11	13	4	2	0	1	0	1	0	4	1	2	0	1	3	3	5	1	3	3	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:29819560G>A	ENST00000355867.4	-	11	2834	c.2082C>T	c.(2080-2082)gtC>gtT	p.V694V	SVIL_ENST00000375398.2_Silent_p.V694V|SVIL_ENST00000375400.3_Silent_p.V300V	NM_021738.2	NP_068506.2	O95425	SVIL_HUMAN	supervillin	694					cytoskeleton organization (GO:0007010)|skeletal muscle tissue development (GO:0007519)	actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|costamere (GO:0043034)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112		Breast(68;0.103)				TCTTGGCGGCGACGCTCAGCT	0.473																																						ENST00000375398.2																			0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112						c.(2080-2082)gtC>gtT		supervillin							186	170	175					10																	29819560		2203	4300	6503	SO:0001819	synonymous_variant	6840				cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding	g.chr10:29819560G>A	AF051851	CCDS7163.1, CCDS7164.1	10p11.2	2008-07-29			ENSG00000197321	ENSG00000197321			11480	protein-coding gene	gene with protein product	"archvillin"	604126				9382871	Standard	NM_003174		Approved		uc001iut.1	O95425	OTTHUMG00000017882	ENST00000355867.4:c.2082C>T	10.37:g.29819560G>A						SVIL_ENST00000375400.3_Silent_p.V300V|SVIL_ENST00000355867.4_Silent_p.V694V	p.V694V			O95425	SVIL_HUMAN			13	2531	-		Breast(68;0.103)	694					D3DRW9|M1J557|O60611|O60612|Q5VZK5|Q5VZK6|Q9H1R7	Silent	SNP	ENST00000355867.4	37	c.2082C>T	CCDS7164.1																																																																																				0.473	SVIL-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047395.1			8	86	0	0	0	1	0	8	86					A	29819560	G	A	29819560	2	1	435	1	0	0	0	0	0	0	0	1	15418	1045	37	2		2	SVIL	10	29819560	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	44187	29819560	105715187	4637	25562											
KIAA1462	57608	broad.mit.edu	37	chr10	30316868	30316868	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ctgtttgtgatcaccggtagGgaatgctgtgtgcgtctgag	6	13	15	7	2	2	2	1	2	1	0	2	3	2	3	1	2	2	3	1	2	2	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:30316868G>A	ENST00000375377.1	-	3	2310	c.2209C>T	c.(2209-2211)Cct>Tct	p.P737S		NM_020848.2	NP_065899.1	Q9P266	JCAD_HUMAN	KIAA1462	737					cell adhesion (GO:0007155)	cell-cell junction (GO:0005911)				breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						TCACCGGTAGGGAATGCTGTG	0.572																																						ENST00000375377.1																			0				breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						c.(2209-2211)Cct>Tct		KIAA1462							53	56	55					10																	30316868		2125	4245	6370	SO:0001583	missense	57608							g.chr10:30316868G>A	AB040895	CCDS41500.1	10p12.1	2013-04-23			ENSG00000165757	ENSG00000165757			29283	protein-coding gene	gene with protein product	"junctional protein associated with coronary artery disease"	614398				10819331, 21884682	Standard	NM_020848		Approved	JCAD	uc001iux.3	Q9P266	OTTHUMG00000017885	ENST00000375377.1:c.2209C>T	10.37:g.30316868G>A	ENSP00000364526:p.Pro737Ser						p.P737S	NM_020848.2	NP_065899.1	Q9P266	K1462_HUMAN			3	2310	-			737					Q5HYA7|Q5T992|Q86WZ9|Q9BYJ2	Missense_Mutation	SNP	ENST00000375377.1	37	c.2209C>T	CCDS41500.1	.	.	.	.	.	.	.	.	.	.	G	9.149	1.015705	0.19355	.	.	ENSG00000165757	ENST00000375377	T	0.11930	2.73	5.62	-1.11	0.09840	.	1.205760	0.05630	N	0.581461	T	0.07548	0.0190	N	0.19112	0.55	0.09310	N	1	B	0.17667	0.023	B	0.09377	0.004	T	0.38993	-0.9635	10	0.21014	T	0.42	-0.7531	3.3321	0.07088	0.1691:0.2928:0.3906:0.1476	.	737	Q9P266	K1462_HUMAN	S	737	ENSP00000364526:P737S	ENSP00000364526:P737S	P	-	1	0	KIAA1462	30356874	0.000000	0.05858	0.000000	0.03702	0.022000	0.10575	-0.649000	0.05384	-0.147000	0.11254	-0.311000	0.09066	CCT		0.572	KIAA1462-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047409.1	NM_020848		12	25	0	0	0	1	0	12	25					A	30316868	G	A	30316868	3	1	435	1	0	0	0	0	1	0	0	0	8234	1232	43	3	1878	3	KIAA1462	10	30316868	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	497308	30316868	105217879	4638	25563											
KIAA1462	57608	broad.mit.edu	37	chr10	30317153	30317153	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ttggaactccgttctcccacCcatgcttcctgtgagggcct	5	12	9	15	1	1	1	0	1	1	0	4	2	3	2	5	2	2	2	5	2	1	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:30317153C>T	ENST00000375377.1	-	3	2025	c.1924G>A	c.(1924-1926)Ggt>Agt	p.G642S		NM_020848.2	NP_065899.1	Q9P266	JCAD_HUMAN	KIAA1462	642					cell adhesion (GO:0007155)	cell-cell junction (GO:0005911)				breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						GTTCTCCCACCCATGCTTCCT	0.498																																						ENST00000375377.1																			0				breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						c.(1924-1926)Ggt>Agt		KIAA1462							113	109	111					10																	30317153		1948	4141	6089	SO:0001583	missense	57608							g.chr10:30317153C>T	AB040895	CCDS41500.1	10p12.1	2013-04-23			ENSG00000165757	ENSG00000165757			29283	protein-coding gene	gene with protein product	"junctional protein associated with coronary artery disease"	614398				10819331, 21884682	Standard	NM_020848		Approved	JCAD	uc001iux.3	Q9P266	OTTHUMG00000017885	ENST00000375377.1:c.1924G>A	10.37:g.30317153C>T	ENSP00000364526:p.Gly642Ser						p.G642S	NM_020848.2	NP_065899.1	Q9P266	K1462_HUMAN			3	2025	-			642					Q5HYA7|Q5T992|Q86WZ9|Q9BYJ2	Missense_Mutation	SNP	ENST00000375377.1	37	c.1924G>A	CCDS41500.1	.	.	.	.	.	.	.	.	.	.	C	8.702	0.909988	0.17833	.	.	ENSG00000165757	ENST00000375377	T	0.11063	2.81	5.62	2.67	0.31697	.	0.978663	0.08411	N	0.949822	T	0.05777	0.0151	N	0.08118	0	0.09310	N	0.999998	B	0.02656	0.0	B	0.08055	0.003	T	0.40961	-0.9535	10	0.45353	T	0.12	-0.4977	4.8087	0.13333	0.0:0.4447:0.3073:0.248	.	642	Q9P266	K1462_HUMAN	S	642	ENSP00000364526:G642S	ENSP00000364526:G642S	G	-	1	0	KIAA1462	30357159	0.310000	0.24527	0.333000	0.25482	0.080000	0.17528	0.772000	0.26647	0.291000	0.22468	0.561000	0.74099	GGT		0.498	KIAA1462-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047409.1	NM_020848		16	33	0	0	0	1	0	16	33					T	30317153	C	T	30317153	3	4	435	1	0	0	0	0	1	0	0	0	8234	623	22	3	2163	3	KIAA1462	10	30317153	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	285	30317153	105217594	4639	25564											
LYZL2	119180	broad.mit.edu	37	chr10	30915180	30915180	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtagccgctctcataatacGccatgcagatccctggaggg	9	9	11	12	2	1	1	1	0	1	1	3	2	2	2	3	2	3	3	3	2	3	3	rs144040075		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:30915180G>A	ENST00000375318.2	-	3	346	c.290C>T	c.(289-291)gCg>gTg	p.A97V		NM_183058.2	NP_898881.2	Q7Z4W2	LYZL2_HUMAN	lysozyme-like 2	51					cell wall macromolecule catabolic process (GO:0016998)	extracellular region (GO:0005576)	lysozyme activity (GO:0003796)			NS(2)|central_nervous_system(1)|large_intestine(1)|lung(14)|prostate(1)	19		Prostate(175;0.151)				CTCATAATACGCCATGCAGAT	0.552													G|||	1	0.000199681	0	0	5008	,	,		20206	0.001		0	False		,,,				2504	0					ENST00000375318.2																			0				NS(2)|central_nervous_system(1)|large_intestine(1)|lung(14)|prostate(1)	19						c.(289-291)gCg>gTg		lysozyme-like 2		G	VAL/ALA	6,4400	11.4+/-27.6	0,6,2197	113	91	98		290	2.3	0.8	10	dbSNP_134	98	0,8600		0,0,4300	no	missense	LYZL2	NM_183058.2	64	0,6,6497	AA,AG,GG		0.0,0.1362,0.0461	benign	97/195	30915180	6,13000	2203	4300	6503	SO:0001583	missense	119180				cell wall macromolecule catabolic process	extracellular region	lysozyme activity	g.chr10:30915180G>A	AF139543	CCDS7167.2	10p11.23	2009-12-04			ENSG00000151033	ENSG00000151033			29613	protein-coding gene	gene with protein product		612748					Standard	NM_183058		Approved		uc001ivk.3	Q7Z4W2	OTTHUMG00000017898	ENST00000375318.2:c.290C>T	10.37:g.30915180G>A	ENSP00000364467:p.Ala97Val						p.A97V	NM_183058.2	NP_898881.2	Q7Z4W2	LYZL2_HUMAN			3	346	-		Prostate(175;0.151)	51					Q6NZ69	Missense_Mutation	SNP	ENST00000375318.2	37	c.290C>T	CCDS7167.2	.	.	.	.	.	.	.	.	.	.	G	9.208	1.030170	0.19512	0.001362	0.0	ENSG00000151033	ENST00000375318	T	0.78816	-1.21	2.27	2.27	0.28462	.	0.000000	0.85682	D	0.000000	T	0.77177	0.4092	M	0.62016	1.91	0.34677	D	0.724306	D	0.63880	0.993	P	0.50659	0.647	T	0.82750	-0.0303	10	0.59425	D	0.04	-17.7678	8.1709	0.31254	0.0:0.0:1.0:0.0	.	97	Q7Z4W2-2	.	V	97	ENSP00000364467:A97V	ENSP00000364467:A97V	A	-	2	0	LYZL2	30955186	0.999000	0.42202	0.815000	0.32552	0.280000	0.26924	4.614000	0.61183	1.580000	0.49851	0.306000	0.20318	GCG		0.552	LYZL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047434.1	NM_183058		10	32	0	0	0	1	0	10	32					A	30915180	G	A	30915180	3	1	435	1	0	0	0	0	1	0	0	0	9132	1087	38	1	306	1	LYZL2	10	30915180	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	598027	30915180	104619567	4640	25565											
ZNF438	220929	broad.mit.edu	37	chr10	31139109	31139109	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agggcatagttctgggtggaCatccccagcagcttggagtt	8	10	14	9	0	1	0	0	0	1	0	2	2	2	2	2	4	2	5	2	4	1	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:31139109C>T	ENST00000361310.3	-	6	554	c.225G>A	c.(223-225)atG>atA	p.M75I	ZNF438_ENST00000375311.1_Intron|ZNF438_ENST00000452305.1_Missense_Mutation_p.M65I|ZNF438_ENST00000538351.2_Missense_Mutation_p.M26I|ZNF438_ENST00000436087.2_Missense_Mutation_p.M75I|ZNF438_ENST00000413025.1_Missense_Mutation_p.M75I|ZNF438_ENST00000444692.2_Missense_Mutation_p.M65I|ZNF438_ENST00000331737.6_Missense_Mutation_p.M65I|ZNF438_ENST00000442986.1_Missense_Mutation_p.M75I			Q7Z4V0	ZN438_HUMAN	zinc finger protein 438	75					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(15)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(175;0.0587)				TCTGGGTGGACATCCCCAGCA	0.532																																						ENST00000538351.1																			0				breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(15)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						c.(76-78)atG>atA		zinc finger protein 438							138	134	135					10																	31139109		2203	4300	6503	SO:0001583	missense	220929				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr10:31139109C>T	AK057323	CCDS7168.1, CCDS44369.1, CCDS53504.1	10p11.23	2006-02-15			ENSG00000183621	ENSG00000183621		"Zinc fingers, C2H2-type"	21029	protein-coding gene	gene with protein product							Standard	NM_182755		Approved	bA330O11.1	uc010qeb.2	Q7Z4V0	OTTHUMG00000017904	ENST00000361310.3:c.225G>A	10.37:g.31139109C>T	ENSP00000354663:p.Met75Ile					ZNF438_ENST00000331737.6_Missense_Mutation_p.M65I|ZNF438_ENST00000436087.2_Missense_Mutation_p.M75I|ZNF438_ENST00000444692.2_Missense_Mutation_p.M65I|ZNF438_ENST00000452305.1_Missense_Mutation_p.M65I|ZNF438_ENST00000361310.3_Missense_Mutation_p.M75I|ZNF438_ENST00000375311.1_Intron|ZNF438_ENST00000442986.1_Missense_Mutation_p.M75I|ZNF438_ENST00000413025.1_Missense_Mutation_p.M75I	p.M26I	NM_001143769.1	NP_001137241.1	Q7Z4V0	ZN438_HUMAN			7	832	-		Prostate(175;0.0587)	75					A2A3J4|A8K9L5|Q5T426|Q658Q4|Q6ZN65	Missense_Mutation	SNP	ENST00000361310.3	37	c.78G>A	CCDS7168.1	.	.	.	.	.	.	.	.	.	.	C	11.58	1.679683	0.29783	.	.	ENSG00000183621	ENST00000331737;ENST00000361310;ENST00000436087;ENST00000442986;ENST00000413025;ENST00000452305;ENST00000444692;ENST00000538351	T;T;T;T;T;T;T;T	0.59224	0.28;0.28;0.28;0.28;0.28;0.28;0.28;0.28	5.63	4.72	0.59763	.	0.279498	0.45606	D	0.000349	T	0.52917	0.1764	L	0.59436	1.845	0.29125	N	0.88	B;B	0.20052	0.024;0.041	B;B	0.19946	0.012;0.027	T	0.55623	-0.8112	10	0.66056	D	0.02	-5.9807	10.2331	0.43266	0.1369:0.7904:0.0:0.0727	.	75;65	Q7Z4V0;Q7Z4V0-2	ZN438_HUMAN;.	I	65;75;75;75;75;65;65;26	ENSP00000333571:M65I;ENSP00000354663:M75I;ENSP00000406934:M75I;ENSP00000412363:M75I;ENSP00000387546:M75I;ENSP00000413060:M65I;ENSP00000410898:M65I;ENSP00000445461:M26I	ENSP00000333571:M65I	M	-	3	0	ZNF438	31179115	0.491000	0.26019	0.969000	0.41365	0.599000	0.36880	-0.254000	0.08781	1.357000	0.45904	0.655000	0.94253	ATG		0.532	ZNF438-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000277006.1	NM_182755		7	82	0	0	0	1	0	7	82					T	31139109	C	T	31139109	3	4	435	1	0	0	0	0	1	0	0	0	17907	478	17	3	2269	3	ZNF438	10	31139109	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	223929	31139109	104395638	4641	25566											
ZEB1	6935	broad.mit.edu	37	chr10	31810746	31810746	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cagtgttccatgcttaagagCgctagctgccaataagcaaa	13	9	9	10	1	0	1	0	0	0	1	1	1	1	1	2	0	5	5	2	0	5	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:31810746C>T	ENST00000320985.10	+	7	2593	c.2483C>T	c.(2482-2484)gCg>gTg	p.A828V	ZEB1_ENST00000361642.5_Missense_Mutation_p.A829V|ZEB1_ENST00000542815.3_Missense_Mutation_p.A761V|ZEB1_ENST00000559858.1_3'UTR|ZEB1_ENST00000446923.2_Missense_Mutation_p.A812V|ZEB1_ENST00000560721.2_Missense_Mutation_p.A808V			P37275	ZEB1_HUMAN	zinc finger E-box binding homeobox 1	828					cartilage development (GO:0051216)|cell proliferation (GO:0008283)|cellular response to amino acid stimulus (GO:0071230)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cochlea morphogenesis (GO:0090103)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic skeletal system morphogenesis (GO:0048704)|forebrain development (GO:0030900)|immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial cell differentiation (GO:0030857)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|pattern specification process (GO:0007389)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of mesenchymal cell proliferation (GO:0010464)|regulation of smooth muscle cell differentiation (GO:0051150)|regulation of T cell differentiation in thymus (GO:0033081)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|response to activity (GO:0014823)|response to nutrient levels (GO:0031667)|semicircular canal morphogenesis (GO:0048752)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|E-box binding (GO:0070888)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(2)|breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(38)|ovary(3)|skin(6)|upper_aerodigestive_tract(4)	77		Prostate(175;0.0156)				TGCTTAAGAGCGCTAGCTGCC	0.502																																					Ovarian(40;423 959 14296 36701 49589)	ENST00000446923.2																			0				NS(2)|breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(38)|ovary(3)|skin(6)|upper_aerodigestive_tract(4)	77						c.(2434-2436)gCg>gTg		zinc finger E-box binding homeobox 1							112	94	100					10																	31810746		2203	4300	6503	SO:0001583	missense	6935				cell proliferation|immune response|negative regulation of transcription from RNA polymerase II promoter|positive regulation of neuron differentiation	cytoplasm	E-box binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding	g.chr10:31810746C>T	AK091478	CCDS7169.1, CCDS44370.1, CCDS53505.1, CCDS53506.1, CCDS53507.1	10p11.22	2014-02-14	2007-02-15	2007-02-15	ENSG00000148516	ENSG00000148516		"Zinc fingers, C2H2-type", "Homeoboxes / ZF class"	11642	protein-coding gene	gene with protein product		189909	"transcription factor 8 (represses interleukin 2 expression)", "posterior polymorphous corneal dystrophy 3"	TCF8, PPCD3		1427828, 1840704, 15384081, 16252232	Standard	NM_001128128		Approved	BZP, ZEB, AREB6, NIL-2-A, Zfhep, Zfhx1a, FECD6	uc001ivu.4	P37275	OTTHUMG00000017907	ENST00000320985.10:c.2483C>T	10.37:g.31810746C>T	ENSP00000319248:p.Ala828Val					ZEB1_ENST00000560721.2_Missense_Mutation_p.A808V|ZEB1_ENST00000320985.10_Missense_Mutation_p.A828V|ZEB1_ENST00000361642.5_Missense_Mutation_p.A829V|ZEB1_ENST00000542815.3_Missense_Mutation_p.A761V|ZEB1_ENST00000559858.1_3'UTR	p.A812V	NM_001128128.2|NM_001174094.1	NP_001121600.1|NP_001167565.1	P37275	ZEB1_HUMAN			7	2826	+		Prostate(175;0.0156)	828					B4DJV0|B4DUW9|E9PCM7|F5H4I8|Q12924|Q13800|Q2KJ05|Q5T968|Q5VZ84|Q8NB68	Missense_Mutation	SNP	ENST00000320985.10	37	c.2435C>T	CCDS7169.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.133520	0.77662	.	.	ENSG00000148516	ENST00000542879;ENST00000537225;ENST00000361642;ENST00000546250;ENST00000542815;ENST00000320985;ENST00000437844;ENST00000543514;ENST00000446923	T;T;T;T;T	0.12672	2.95;2.66;2.69;2.66;2.69	5.68	5.68	0.88126	.	0.000000	0.64402	D	0.000011	T	0.40067	0.1102	M	0.69823	2.125	0.80722	D	1	D;D;D;D;D;D;D;D	0.89917	0.994;1.0;1.0;1.0;1.0;0.99;1.0;1.0	P;D;D;D;D;P;D;D	0.80764	0.859;0.994;0.986;0.986;0.986;0.727;0.986;0.986	T	0.03463	-1.1034	10	0.52906	T	0.07	-20.8683	20.1615	0.98135	0.0:1.0:0.0:0.0	.	761;828;812;828;828;808;829;828	F5H4I8;F5H1R1;E9PCM7;B2RBI8;A0JLS9;Q5VZ84;Q2KJ05;P37275	.;.;.;.;.;.;.;ZEB1_HUMAN	V	610;828;829;823;761;828;808;719;812	ENSP00000444282:A610V;ENSP00000354487:A829V;ENSP00000444891:A761V;ENSP00000319248:A828V;ENSP00000391612:A812V	ENSP00000319248:A828V	A	+	2	0	ZEB1	31850752	1.000000	0.71417	0.936000	0.37596	0.857000	0.48899	7.445000	0.80570	2.835000	0.97688	0.650000	0.86243	GCG		0.502	ZEB1-018	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000419083.2	NM_030751		23	26	0	0	0	1	0	23	26					T	31810746	C	T	31810746	3	4	435	1	0	0	0	0	1	0	0	0	17620	768	27	1	2523	1	ZEB1	10	31810746	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	671637	31810746	103724001	4642	25567											
ZEB1	6935	broad.mit.edu	37	chr10	31815671	31815671	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atcatttgattgaacacatgCgattacattctggagaaaag	15	12	8	6	1	2	3	1	2	1	1	2	5	2	3	0	1	3	0	0	1	4	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:31815671C>T	ENST00000320985.10	+	9	2964	c.2854C>T	c.(2854-2856)Cga>Tga	p.R952*	ZEB1_ENST00000361642.5_Nonsense_Mutation_p.R953*|ZEB1_ENST00000542815.3_Nonsense_Mutation_p.R885*|ZEB1_ENST00000446923.2_Nonsense_Mutation_p.R936*|ZEB1_ENST00000560721.2_Nonsense_Mutation_p.R932*			P37275	ZEB1_HUMAN	zinc finger E-box binding homeobox 1	952					cartilage development (GO:0051216)|cell proliferation (GO:0008283)|cellular response to amino acid stimulus (GO:0071230)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cochlea morphogenesis (GO:0090103)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic skeletal system morphogenesis (GO:0048704)|forebrain development (GO:0030900)|immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial cell differentiation (GO:0030857)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|pattern specification process (GO:0007389)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of mesenchymal cell proliferation (GO:0010464)|regulation of smooth muscle cell differentiation (GO:0051150)|regulation of T cell differentiation in thymus (GO:0033081)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|response to activity (GO:0014823)|response to nutrient levels (GO:0031667)|semicircular canal morphogenesis (GO:0048752)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|E-box binding (GO:0070888)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)	p.R952*(1)		NS(2)|breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(38)|ovary(3)|skin(6)|upper_aerodigestive_tract(4)	77		Prostate(175;0.0156)				TGAACACATGCGATTACATTC	0.363																																					Ovarian(40;423 959 14296 36701 49589)	ENST00000446923.2																			1	Substitution - Nonsense(1)	p.R952*(1)	large_intestine(1)	NS(2)|breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(38)|ovary(3)|skin(6)|upper_aerodigestive_tract(4)	77						c.(2806-2808)Cga>Tga		zinc finger E-box binding homeobox 1							93	85	88					10																	31815671		2203	4300	6503	SO:0001587	stop_gained	6935				cell proliferation|immune response|negative regulation of transcription from RNA polymerase II promoter|positive regulation of neuron differentiation	cytoplasm	E-box binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding	g.chr10:31815671C>T	AK091478	CCDS7169.1, CCDS44370.1, CCDS53505.1, CCDS53506.1, CCDS53507.1	10p11.22	2014-02-14	2007-02-15	2007-02-15	ENSG00000148516	ENSG00000148516		"Zinc fingers, C2H2-type", "Homeoboxes / ZF class"	11642	protein-coding gene	gene with protein product		189909	"transcription factor 8 (represses interleukin 2 expression)", "posterior polymorphous corneal dystrophy 3"	TCF8, PPCD3		1427828, 1840704, 15384081, 16252232	Standard	NM_001128128		Approved	BZP, ZEB, AREB6, NIL-2-A, Zfhep, Zfhx1a, FECD6	uc001ivu.4	P37275	OTTHUMG00000017907	ENST00000320985.10:c.2854C>T	10.37:g.31815671C>T	ENSP00000319248:p.Arg952*					ZEB1_ENST00000560721.2_Nonsense_Mutation_p.R932*|ZEB1_ENST00000320985.10_Nonsense_Mutation_p.R952*|ZEB1_ENST00000361642.5_Nonsense_Mutation_p.R953*|ZEB1_ENST00000542815.3_Nonsense_Mutation_p.R885*	p.R936*	NM_001128128.2|NM_001174094.1	NP_001121600.1|NP_001167565.1	P37275	ZEB1_HUMAN			9	3197	+		Prostate(175;0.0156)	952					B4DJV0|B4DUW9|E9PCM7|F5H4I8|Q12924|Q13800|Q2KJ05|Q5T968|Q5VZ84|Q8NB68	Nonsense_Mutation	SNP	ENST00000320985.10	37	c.2806C>T	CCDS7169.1	.	.	.	.	.	.	.	.	.	.	C	38	7.267156	0.98175	.	.	ENSG00000148516	ENST00000542879;ENST00000537225;ENST00000361642;ENST00000546250;ENST00000542815;ENST00000320985;ENST00000437844;ENST00000543514;ENST00000446923	.	.	.	5.24	4.3	0.51218	.	0.000000	0.50627	D	0.000119	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-0.8987	14.7696	0.69665	0.1457:0.8543:0.0:0.0	.	.	.	.	X	734;952;953;947;885;952;932;843;936	.	ENSP00000319248:R952X	R	+	1	2	ZEB1	31855677	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	3.872000	0.56085	1.154000	0.42482	0.585000	0.79938	CGA		0.363	ZEB1-018	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000419083.2	NM_030751		20	17	0	0	0	1	0	20	17					T	31815671	C	T	31815671	4	4	435	1	0	0	0	0	0	1	0	0	17620	760	27	1	2902	1	ZEB1	10	31815671	Nonsense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	4925	31815671	103719076	4643	25568											
ARHGAP12	94134	broad.mit.edu	37	chr10	32096640	32096640	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attaattctacaatctgattCtggtacacagtatgaactgc	13	14	6	8	0	3	2	0	2	3	0	3	2	3	2	0	1	4	2	0	1	6	6			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:32096640C>A	ENST00000344936.2	-	20	2721	c.2487G>T	c.(2485-2487)caG>caT	p.Q829H	ARHGAP12_ENST00000492028.1_5'UTR|ARHGAP12_ENST00000375245.4_Missense_Mutation_p.Q777H|ARHGAP12_ENST00000375250.5_Missense_Mutation_p.Q799H|ARHGAP12_ENST00000396144.4_Missense_Mutation_p.Q824H|ARHGAP12_ENST00000311380.4_Missense_Mutation_p.Q777H	NM_001270697.1|NM_018287.6	NP_001257626.1|NP_060757.4	Q8IWW6	RHG12_HUMAN	Rho GTPase activating protein 12	829	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				morphogenesis of an epithelial sheet (GO:0002011)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)			NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(11)|lung(10)|skin(1)|urinary_tract(2)	31		Prostate(175;0.0199)				CAATCTGATTCTGGTACACAG	0.373																																						ENST00000375250.5																			0				NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(11)|lung(10)|skin(1)|urinary_tract(2)	31						c.(2395-2397)caG>caT		Rho GTPase activating protein 12							83	83	83					10																	32096640		2203	4300	6503	SO:0001583	missense	94134				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	g.chr10:32096640C>A	AY033594	CCDS7170.1, CCDS59214.1, CCDS59215.1, CCDS59216.1, CCDS73082.1	10p11.22	2013-01-10			ENSG00000165322	ENSG00000165322		"Rho GTPase activating proteins", "Pleckstrin homology (PH) domain containing"	16348	protein-coding gene	gene with protein product		610577				11854031	Standard	NM_001270695		Approved	FLJ20737, FLJ10971, FLJ21785	uc001ivz.2	Q8IWW6	OTTHUMG00000017911	ENST00000344936.2:c.2487G>T	10.37:g.32096640C>A	ENSP00000345808:p.Gln829His					ARHGAP12_ENST00000396144.4_Missense_Mutation_p.Q824H|ARHGAP12_ENST00000311380.4_Missense_Mutation_p.Q777H|ARHGAP12_ENST00000344936.2_Missense_Mutation_p.Q829H|ARHGAP12_ENST00000492028.1_5'UTR|ARHGAP12_ENST00000375245.4_Missense_Mutation_p.Q777H	p.Q799H	NM_001270696.1	NP_001257625.1	Q8IWW6	RHG12_HUMAN			18	2638	-		Prostate(175;0.0199)	829			Rho-GAP.		B1ANY0|B1ANY1|B1ANY2|Q504X1|Q86UB3|Q8IWW7|Q8N3L1|Q9NT76	Missense_Mutation	SNP	ENST00000344936.2	37	c.2397G>T	CCDS7170.1	.	.	.	.	.	.	.	.	.	.	C	15.14	2.746146	0.49151	.	.	ENSG00000165322	ENST00000311380;ENST00000375250;ENST00000344936;ENST00000396144;ENST00000375245	T;T;T;T;T	0.44881	0.91;0.91;0.91;0.91;0.91	5.25	-3.28	0.05033	Rho GTPase-activating protein domain (3);Rho GTPase activation protein (1);	0.054030	0.85682	D	0.000000	T	0.64800	0.2631	M	0.86343	2.81	0.51482	D	0.999922	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.78314	0.991;0.991;0.98;0.98;0.991;0.967	T	0.71241	-0.4651	10	0.87932	D	0	.	16.0845	0.81031	0.0:0.7052:0.0:0.2948	.	782;799;824;829;777;128	Q1RLN5;Q8IWW6-2;Q504X1;Q8IWW6;Q8IWW6-3;Q9NV28	.;.;.;RHG12_HUMAN;.;.	H	777;799;829;824;777	ENSP00000310984:Q777H;ENSP00000364399:Q799H;ENSP00000345808:Q829H;ENSP00000379448:Q824H;ENSP00000364394:Q777H	ENSP00000310984:Q777H	Q	-	3	2	ARHGAP12	32136646	1.000000	0.71417	0.864000	0.33941	0.992000	0.81027	1.200000	0.32247	-0.788000	0.04504	-0.247000	0.11927	CAG		0.373	ARHGAP12-009	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000047465.1			18	17	1	0	1.99824e-07	1	2.09433e-07	18	17					A	32096640	C	A	32096640	3	1	435	1	0	0	0	0	1	0	0	0	865	912	32	5	57	5	ARHGAP12	10	32096640	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	280969	32096640	103438107	4644	25569											
KIF5B	3799	broad.mit.edu	37	chr10	32329372	32329372	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaaatattgttccattataTccttcaagtacatctatgag	13	15	5	8	0	2	1	1	1	1	0	4	1	4	1	2	0	1	3	2	0	7	8			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:32329372T>C	ENST00000302418.4	-	3	685	c.228A>G	c.(226-228)ggA>ggG	p.G76G		NM_004521.2	NP_004512.1	P33176	KINH_HUMAN	kinesin family member 5B	76	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cellular protein metabolic process (GO:0044267)|cytoplasm organization (GO:0007028)|cytoskeleton-dependent intracellular transport (GO:0030705)|microtubule-based movement (GO:0007018)|plus-end-directed vesicle transport along microtubule (GO:0072383)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of potassium ion transport (GO:0043268)|regulation of membrane potential (GO:0042391)|stress granule disassembly (GO:0035617)|vesicle transport along microtubule (GO:0047496)	ciliary rootlet (GO:0035253)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule organizing center (GO:0005815)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|vesicle (GO:0031982)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule binding (GO:0008017)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)		KIF5B/ALK(8)|KIF5B/RET(79)	NS(2)|breast(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(11)|ovary(1)|prostate(1)	35		Prostate(175;0.0137)				TTCCATTATATCCTTCAAGTA	0.343			T	"RET, ALK"	NSCLC																																	ENST00000302418.4				Dom	yes		10	10p11.22	3799	T	kinesin family member 5B			E	"RET, ALK"		NSCLC	KIF5B/ALK(8)|KIF5B/RET(79)	0				NS(2)|breast(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(11)|ovary(1)|prostate(1)	35						c.(226-228)ggA>ggG		kinesin family member 5B							175	160	165					10																	32329372		2202	4296	6498	SO:0001819	synonymous_variant	3799				stress granule disassembly|vesicle transport along microtubule	kinesin complex|microtubule|perinuclear region of cytoplasm|vesicle	ATP binding|microtubule binding|microtubule motor activity	g.chr10:32329372T>C	X65873	CCDS7171.1	10p11.22	2007-02-13			ENSG00000170759	ENSG00000170759		"Kinesins"	6324	protein-coding gene	gene with protein product		602809		KNS1		1607388	Standard	NM_004521		Approved	KNS	uc001iwe.4	P33176	OTTHUMG00000017913	ENST00000302418.4:c.228A>G	10.37:g.32329372T>C							p.G76G	NM_004521.2	NP_004512.1	P33176	KINH_HUMAN			3	685	-		Prostate(175;0.0137)	76			Kinesin-motor.		A0AVB2|Q5VZ85	Silent	SNP	ENST00000302418.4	37	c.228A>G	CCDS7171.1																																																																																				0.343	KIF5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047467.1	NM_004521		3	24	0	0	0	1	0	3	24					C	32329372	T	C	32329372	2	2	435	1	0	0	0	0	0	0	0	1	8306	1422	50	4		4	KIF5B	10	32329372	Silent	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	232732	32329372	103205375	4645	25570											
EPC1	80314	broad.mit.edu	37	chr10	32576142	32576142	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	agtagcagcggcagacgatgGtaagactttgggcttctttt	9	12	13	7	2	1	2	0	0	1	2	1	3	1	2	0	3	2	5	0	3	2	6			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:32576142G>A	ENST00000263062.8	-	7	1305	c.1036C>T	c.(1036-1038)Cca>Tca	p.P346S	EPC1_ENST00000319778.6_Missense_Mutation_p.P346S|EPC1_ENST00000375110.2_Missense_Mutation_p.P296S	NM_025209.2	NP_079485.1	Q9H2F5	EPC1_HUMAN	enhancer of polycomb homolog 1 (Drosophila)	346					chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|negative regulation of gene expression, epigenetic (GO:0045814)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of growth (GO:0040008)|transcription, DNA-templated (GO:0006351)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Piccolo NuA4 histone acetyltransferase complex (GO:0032777)				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(5)|urinary_tract(1)	24		Prostate(175;0.0199)				GCAGACGATGGTAAGACTTTG	0.448																																						ENST00000319778.6																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(5)|urinary_tract(1)	24						c.(1036-1038)Cca>Tca		enhancer of polycomb homolog 1 (Drosophila)							153	130	138					10																	32576142		2203	4300	6503	SO:0001583	missense	80314				histone H2A acetylation|histone H4 acetylation|negative regulation of gene expression, epigenetic|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|regulation of growth|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear membrane|Piccolo NuA4 histone acetyltransferase complex		g.chr10:32576142G>A	AF277374	CCDS7172.1, CCDS60511.1, CCDS73083.1	10p11	2005-12-12			ENSG00000120616	ENSG00000120616			19876	protein-coding gene	gene with protein product		610999				10976108	Standard	NM_025209		Approved	Epl1	uc001iwg.2	Q9H2F5	OTTHUMG00000017925	ENST00000263062.8:c.1036C>T	10.37:g.32576142G>A	ENSP00000263062:p.Pro346Ser					EPC1_ENST00000263062.8_Missense_Mutation_p.P346S|EPC1_ENST00000375110.2_Missense_Mutation_p.P296S	p.P346S	NM_001272004.1|NM_001272019.1	NP_001258933.1|NP_001258948.1	Q9H2F5	EPC1_HUMAN			7	1338	-		Prostate(175;0.0199)	346					B4DSC3|D3DRX7|Q5VW54|Q5VW56|Q5VW58|Q8NAQ4|Q8NE21|Q96LF4|Q96RR6|Q9H7T7	Missense_Mutation	SNP	ENST00000263062.8	37	c.1036C>T	CCDS7172.1	.	.	.	.	.	.	.	.	.	.	G	18.19	3.570036	0.65765	.	.	ENSG00000120616	ENST00000375110;ENST00000319778;ENST00000263062	T;T;T	0.67345	-0.26;-0.26;-0.26	5.7	4.75	0.60458	.	0.138857	0.46442	D	0.000299	T	0.79522	0.4460	M	0.71581	2.175	0.80722	D	1	B;D;B;B	0.89917	0.038;1.0;0.383;0.0	B;D;B;B	0.87578	0.032;0.998;0.236;0.004	T	0.73911	-0.3833	10	0.13108	T	0.6	-11.1893	18.3181	0.90227	0.0:0.1285:0.8715:0.0	.	346;296;346;346	B8XCX7;Q9H2F5-3;Q9H2F5-2;Q9H2F5	.;.;.;EPC1_HUMAN	S	296;346;346	ENSP00000364251:P296S;ENSP00000318559:P346S;ENSP00000263062:P346S	ENSP00000263062:P346S	P	-	1	0	EPC1	32616148	1.000000	0.71417	0.979000	0.43373	0.943000	0.58893	6.629000	0.74267	2.691000	0.91804	0.557000	0.71058	CCA		0.448	EPC1-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000047484.1			45	46	0	0	0	1	0	45	46					A	32576142	G	A	32576142	3	1	435	1	0	0	0	0	1	0	0	0	5160	1261	44	3	1510	3	EPC1	10	32576142	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	246770	32576142	102958605	4646	25571											
C10orf68	79741	broad.mit.edu	37	chr10	33018260	33018260	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atctatttttttctatttagCgtttcctttagaaatcaaaa	12	20	3	6	1	3	1	1	0	2	1	4	1	4	1	1	0	1	1	1	0	7	10			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:33018260C>T	ENST00000375030.2	+	13	1343	c.725C>T	c.(724-726)aCg>aTg	p.T242M	C10orf68_ENST00000375025.4_Splice_Site_p.T234M|C10orf68_ENST00000375028.3_Splice_Site_p.T210M			Q9H943	CJ068_HUMAN		234										breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(4)	29						TTCTATTTAGCGTTTCCTTTA	0.313																																						ENST00000375030.2																			0				breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(4)	29						c.e13-1		chromosome 10 open reading frame 68							50	54	53					10																	33018260		2200	4291	6491	SO:0001630	splice_region_variant	79741							g.chr10:33018260C>T																												ENST00000375030.2:c.725-1C>T	10.37:g.33018260C>T						C10orf68_ENST00000375025.4_Splice_Site_p.T234_splice|C10orf68_ENST00000375028.3_Splice_Site_p.T210_splice	p.T242_splice			Q9H943	CJ068_HUMAN			13	1343	+			234					B0QZ71|Q08AN7|Q8N7T7	Splice_Site	SNP	ENST00000375030.2	37	c.724_splice		.	.	.	.	.	.	.	.	.	.	.	5.241	0.230020	0.09969	.	.	ENSG00000150076	ENST00000302316;ENST00000375030;ENST00000375028;ENST00000375025;ENST00000375037	T;T;T;T	0.30448	1.57;1.53;1.56;1.55	2.0	1.08	0.20341	.	.	.	.	.	T	0.23846	0.0577	L	0.53249	1.67	0.09310	N	0.999999	B;B;B;B	0.22541	0.015;0.005;0.053;0.071	B;B;B;B	0.15870	0.004;0.004;0.014;0.012	T	0.21930	-1.0231	8	.	.	.	.	4.7491	0.13052	0.0:0.81:0.0:0.19	.	151;234;210;242	B4DX58;Q9H943;A2A3B4;A2A3D6	.;CJ068_HUMAN;.;.	M	234;242;210;234;182	ENSP00000303710:T234M;ENSP00000364170:T242M;ENSP00000364168:T210M;ENSP00000364165:T234M	.	T	+	2	0	C10orf68	33058266	0.139000	0.22563	0.179000	0.23059	0.031000	0.12232	-0.117000	0.10708	0.395000	0.25257	-0.347000	0.07816	ACG		0.313	C10orf68-001	PUTATIVE	basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000313999.2		Missense_Mutation	18	38	0	0	0	1	0	18	38					T	33018260	C	T	33018260	5	4	435	1	0	0	0	0	0	0	1	0	1613	782	27	1	731	1	C10orf68	10	33018260	Splice_Site	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	442118	33018260	102516487	4647	25572											
NRP1	8829	broad.mit.edu	37	chr10	33491899	33491899	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	catccaccaagttcccgttgGgagtggtcggtccagctgta	7	10	12	12	2	0	0	0	0	0	0	4	1	3	1	4	3	1	4	4	3	2	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:33491899G>T	ENST00000265371.4	-	12	2309	c.1784C>A	c.(1783-1785)cCc>cAc	p.P595H	NRP1_ENST00000374875.1_Missense_Mutation_p.P414H|NRP1_ENST00000374823.5_Missense_Mutation_p.P595H|NRP1_ENST00000374867.2_Missense_Mutation_p.P595H|NRP1_ENST00000374822.4_Missense_Mutation_p.P595H|NRP1_ENST00000374821.5_Intron|NRP1_ENST00000395995.1_Missense_Mutation_p.P595H			O14786	NRP1_HUMAN	neuropilin 1	595					angiogenesis (GO:0001525)|angiogenesis involved in coronary vascular morphogenesis (GO:0060978)|artery morphogenesis (GO:0048844)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|axonogenesis involved in innervation (GO:0060385)|branchiomotor neuron axon guidance (GO:0021785)|cell adhesion (GO:0007155)|cell migration involved in sprouting angiogenesis (GO:0002042)|cell-cell signaling (GO:0007267)|cellular response to hepatocyte growth factor stimulus (GO:0035729)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|commissural neuron axon guidance (GO:0071679)|coronary artery morphogenesis (GO:0060982)|dendrite development (GO:0016358)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|endothelial cell chemotaxis (GO:0035767)|endothelial tip cell fate specification (GO:0097102)|facial nerve structural organization (GO:0021612)|gonadotrophin-releasing hormone neuronal migration to the hypothalamus (GO:0021828)|hepatocyte growth factor receptor signaling pathway (GO:0048012)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of neuron apoptotic process (GO:0043524)|nerve development (GO:0021675)|neural crest cell migration involved in autonomic nervous system development (GO:1901166)|neuron migration (GO:0001764)|organ morphogenesis (GO:0009887)|patterning of blood vessels (GO:0001569)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive chemotaxis (GO:0050918)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of cytokine activity (GO:0060301)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of retinal ganglion cell axon guidance (GO:1902336)|positive regulation of smooth muscle cell migration (GO:0014911)|protein localization to early endosome (GO:1902946)|regulation of retinal ganglion cell axon guidance (GO:0090259)|regulation of vesicle-mediated transport (GO:0060627)|renal artery morphogenesis (GO:0061441)|response to wounding (GO:0009611)|retina vasculature morphogenesis in camera-type eye (GO:0061299)|retinal ganglion cell axon guidance (GO:0031290)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|semaphorin-plexin signaling pathway involved in neuron projection guidance (GO:1902285)|signal transduction (GO:0007165)|sprouting angiogenesis (GO:0002040)|sympathetic ganglion development (GO:0061549)|sympathetic neuron projection extension (GO:0097490)|sympathetic neuron projection guidance (GO:0097491)|trigeminal nerve structural organization (GO:0021637)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|VEGF-activated neuropilin signaling pathway (GO:0038190)|VEGF-activated neuropilin signaling pathway involved in axon guidance (GO:1902378)	axon (GO:0030424)|cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|early endosome (GO:0005769)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|neurofilament (GO:0005883)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|semaphorin receptor complex (GO:0002116)|sorting endosome (GO:0097443)	coreceptor activity (GO:0015026)|cytokine binding (GO:0019955)|growth factor binding (GO:0019838)|heparin binding (GO:0008201)|metal ion binding (GO:0046872)|semaphorin receptor activity (GO:0017154)|vascular endothelial growth factor binding (GO:0038085)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(2)|breast(6)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	48					Palifermin(DB00039)|Pegaptanib(DB04895)	GTTCCCGTTGGGAGTGGTCGG	0.498																																					Melanoma(104;886 1489 44640 45944 51153)	ENST00000265371.4																			0				NS(2)|breast(6)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	48						c.(1783-1785)cCc>cAc		neuropilin 1	Palifermin(DB00039)|Pegaptanib(DB04895)						184	152	163					10																	33491899		2203	4300	6503	SO:0001583	missense	8829				axon guidance|cell adhesion|cell-cell signaling|organ morphogenesis|positive regulation of cell proliferation	extracellular region|integral to membrane|plasma membrane	growth factor binding|heparin binding|metal ion binding|vascular endothelial growth factor receptor activity	g.chr10:33491899G>T	AF016050	CCDS7177.1, CCDS31179.1, CCDS31180.1	10p12	2006-02-23			ENSG00000099250	ENSG00000099250		"CD molecules"	8004	protein-coding gene	gene with protein product		602069				9529250, 9331348	Standard	NM_003873		Approved	NRP, VEGF165R, CD304	uc001iwx.4	O14786	OTTHUMG00000019343	ENST00000265371.4:c.1784C>A	10.37:g.33491899G>T	ENSP00000265371:p.Pro595His					NRP1_ENST00000395995.1_Missense_Mutation_p.P595H|NRP1_ENST00000374823.5_Missense_Mutation_p.P595H|NRP1_ENST00000466932.1_Intron|NRP1_ENST00000374821.5_Intron|NRP1_ENST00000374822.4_Missense_Mutation_p.P595H|NRP1_ENST00000374867.2_Missense_Mutation_p.P595H	p.P595H			O14786	NRP1_HUMAN			12	2309	-			595					B0LPG9|O60461|Q5T7F1|Q5T7F2|Q5T7F3|Q86T59|Q96I90|Q96IH5	Missense_Mutation	SNP	ENST00000265371.4	37	c.1784C>A	CCDS7177.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	27.6|27.6	4.846619|4.846619	0.91277|0.91277	.|.	.|.	ENSG00000099250|ENSG00000099250	ENST00000265371;ENST00000374875;ENST00000374867;ENST00000395995;ENST00000374828;ENST00000374814;ENST00000374822;ENST00000374823|ENST00000418675;ENST00000431894	D;D;D;D;D;D|.	0.94000|.	-2.18;-3.33;-2.18;-2.19;-2.54;-2.57|.	5.93|5.93	5.93|5.93	0.95920|0.95920	.|.	0.201131|0.201131	0.52532|0.52532	D|D	0.000065|0.000065	T|T	0.59487|0.59487	0.2197|0.2197	N|N	0.19112|0.19112	0.55|0.55	0.80722|0.80722	D|D	1|1	D;P;D;D;P;D;P|.	0.58268|.	0.959;0.902;0.982;0.97;0.736;0.959;0.736|.	P;P;P;P;P;P;P|.	0.52856|.	0.625;0.711;0.694;0.498;0.625;0.503;0.503|.	T|T	0.62238|0.62238	-0.6896|-0.6896	10|7	0.72032|0.72032	D|D	0.01|0.01	-20.8382|-20.8382	20.3311|20.3311	0.98718|0.98718	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	595;595;595;595;595;414;595|.	A8K9V7;Q5T7F0;O14786-2;Q68DN3;O14786;Q5JWQ6;E9PEP6|.	.;.;.;.;NRP1_HUMAN;.;.|.	H|T	595;414;595;595;18;66;595;595|9;27	ENSP00000265371:P595H;ENSP00000364009:P414H;ENSP00000364001:P595H;ENSP00000379317:P595H;ENSP00000363955:P595H;ENSP00000363956:P595H|.	ENSP00000265371:P595H|ENSP00000416147:P9T	P|P	-|-	2|1	0|0	NRP1|NRP1	33531905|33531905	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	7.181000|7.181000	0.77682|0.77682	2.803000|2.803000	0.96430|0.96430	0.650000|0.650000	0.86243|0.86243	CCC|CCA		0.498	NRP1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051203.2			26	54	1	0	1.77063e-15	1	1.9385e-15	26	54					T	33491899	G	T	33491899	3	4	435	1	0	0	0	0	1	0	0	0	10660	1232	43	5	1026	5	NRP1	10	33491899	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	473639	33491899	102042848	4648	25573											
PARD3	56288	broad.mit.edu	37	chr10	34671822	34671822	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaaccaaatgatgggtgtacGcatggcttggcgaaacatat	13	9	12	7	2	0	1	0	1	0	0	0	3	0	1	1	3	3	3	1	3	5	3	rs201536019		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:34671822G>A	ENST00000374789.3	-	9	1370	c.1045C>T	c.(1045-1047)Cgt>Tgt	p.R349C	PARD3_ENST00000545260.1_Missense_Mutation_p.R305C|PARD3_ENST00000374794.3_Missense_Mutation_p.R305C|PARD3_ENST00000340077.5_Missense_Mutation_p.R349C|PARD3_ENST00000350537.4_Missense_Mutation_p.R349C|PARD3_ENST00000346874.4_Missense_Mutation_p.R349C|PARD3_ENST00000374790.3_Missense_Mutation_p.R305C|PARD3_ENST00000374773.1_Missense_Mutation_p.R349C|PARD3_ENST00000374788.3_Missense_Mutation_p.R349C|PARD3_ENST00000545693.1_Missense_Mutation_p.R349C|PARD3_ENST00000544292.1_Missense_Mutation_p.R79C|PARD3_ENST00000374776.1_Missense_Mutation_p.R349C	NM_019619.3	NP_062565.2	Q8TEW0	PARD3_HUMAN	par-3 family cell polarity regulator	349	PDZ 1. {ECO:0000255|PROSITE- ProRule:PRU00143}.				apical constriction (GO:0003383)|asymmetric cell division (GO:0008356)|axonogenesis (GO:0007409)|cell cycle (GO:0007049)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|centrosome localization (GO:0051642)|establishment of epithelial cell polarity (GO:0090162)|establishment or maintenance of cell polarity (GO:0007163)|microtubule cytoskeleton organization (GO:0000226)|myelination in peripheral nervous system (GO:0022011)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|positive regulation of myelination (GO:0031643)|protein complex assembly (GO:0006461)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein targeting to membrane (GO:0006612)|regulation of actin filament-based process (GO:0032970)|regulation of cellular localization (GO:0060341)|tight junction assembly (GO:0070830)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing, spreading of cells (GO:0044319)	apical part of cell (GO:0045177)|axonal growth cone (GO:0044295)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|internode region of axon (GO:0033269)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|spindle (GO:0005819)|tight junction (GO:0005923)	phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	63		Breast(68;0.0707)				ATGGGTGTACGCATGGCTTGG	0.378													G|||	1	0.000199681	0	0	5008	,	,		19568	0.001		0	False		,,,				2504	0					ENST00000374789.3																			0				NS(2)|breast(4)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	63						c.(1045-1047)Cgt>Tgt		par-3 family cell polarity regulator							141	130	134					10																	34671822		2203	4300	6503	SO:0001583	missense	56288				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|asymmetric cell division|axonogenesis|cell cycle|establishment of epithelial cell polarity|protein complex assembly|protein targeting to membrane|tight junction assembly	cell cortex|cytoskeleton|cytosol|endomembrane system|tight junction	phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|protein binding	g.chr10:34671822G>A	AF252293	CCDS7178.1, CCDS53509.1, CCDS53510.1, CCDS53511.1, CCDS53512.1, CCDS53513.1, CCDS53514.1, CCDS53515.1, CCDS53516.1	10p11.22	2014-06-13	2013-08-28		ENSG00000148498	ENSG00000148498			16051	protein-coding gene	gene with protein product	"atypical PKC isotype-specific interacting protein", "par-3 family cell polarity regulator alpha", "protein phosphatase 1, regulatory subunit 118"	606745	"par-3 (partitioning defective 3, C.elegans) homolog", "par-3 partitioning defective 3 homolog (C. elegans)"			10934474	Standard	NM_001184790		Approved	PAR3, PARD3A, Bazooka, Baz, ASIP, PPP1R118	uc010qej.2	Q8TEW0	OTTHUMG00000017948	ENST00000374789.3:c.1045C>T	10.37:g.34671822G>A	ENSP00000363921:p.Arg349Cys					PARD3_ENST00000374794.3_Missense_Mutation_p.R305C|PARD3_ENST00000350537.4_Missense_Mutation_p.R349C|PARD3_ENST00000374788.3_Missense_Mutation_p.R349C|PARD3_ENST00000374773.1_Missense_Mutation_p.R349C|PARD3_ENST00000545693.1_Missense_Mutation_p.R349C|PARD3_ENST00000374776.1_Missense_Mutation_p.R349C|PARD3_ENST00000346874.4_Missense_Mutation_p.R349C|PARD3_ENST00000544292.1_Missense_Mutation_p.R79C|PARD3_ENST00000374790.3_Missense_Mutation_p.R305C|PARD3_ENST00000545260.1_Missense_Mutation_p.R305C|PARD3_ENST00000340077.5_Missense_Mutation_p.R349C	p.R349C	NM_019619.3	NP_062565.2	Q8TEW0	PARD3_HUMAN			9	1370	-		Breast(68;0.0707)	349			PDZ 1.		F5H5T0|Q5T2U1|Q5VUA2|Q5VUA3|Q5VWV0|Q5VWV1|Q5VWV3|Q5VWV4|Q5VWV5|Q6IQ47|Q8TCZ9|Q8TEW1|Q8TEW2|Q8TEW3|Q96K28|Q96RM6|Q96RM7|Q9BY57|Q9BY58|Q9HC48|Q9NWL4|Q9NYE6	Missense_Mutation	SNP	ENST00000374789.3	37	c.1045C>T	CCDS7178.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	17.99	3.523730	0.64747	.	.	ENSG00000148498	ENST00000545693;ENST00000545260;ENST00000374789;ENST00000374788;ENST00000346874;ENST00000374794;ENST00000350537;ENST00000374790;ENST00000374776;ENST00000340077;ENST00000374773;ENST00000544292	D;D;D;D;D;D;D;D;D;D;D;D	0.83335	-1.71;-1.71;-1.71;-1.71;-1.71;-1.71;-1.71;-1.71;-1.71;-1.71;-1.71;-1.71	5.73	4.83	0.62350	PDZ/DHR/GLGF (2);	0.046483	0.85682	N	0.000000	T	0.81616	0.4860	L	0.59436	1.845	0.80722	D	1	B;B;B;B;B;B;B;B;B;B;P;P;B;B;B	0.36412	0.119;0.009;0.03;0.087;0.012;0.178;0.087;0.015;0.006;0.052;0.552;0.496;0.052;0.11;0.061	B;B;B;B;B;B;B;B;B;B;B;B;B;B;B	0.37989	0.039;0.004;0.027;0.071;0.027;0.111;0.071;0.009;0.006;0.032;0.262;0.171;0.033;0.049;0.049	T	0.82760	-0.0298	10	0.72032	D	0.01	.	14.5253	0.67884	0.07:0.0:0.93:0.0	.	305;305;349;349;349;349;349;349;305;349;349;349;349;349;79	Q8TEW0-5;Q8TEW0-3;Q8TEW0-7;Q8TEW0-6;F5H5T0;Q8TEW0-4;Q8TEW0-2;Q8TEW0;Q5VWV2;Q6IQ47;Q5VWU8;Q8TEW0-8;Q8TEW0-9;Q8TEW0-10;F5GZI3	.;.;.;.;.;.;.;PARD3_HUMAN;.;.;.;.;.;.;.	C	349;305;349;349;349;305;349;305;349;349;349;79	ENSP00000443147:R349C;ENSP00000440857:R305C;ENSP00000363921:R349C;ENSP00000363920:R349C;ENSP00000340591:R349C;ENSP00000363926:R305C;ENSP00000311986:R349C;ENSP00000363922:R305C;ENSP00000363908:R349C;ENSP00000341844:R349C;ENSP00000363905:R349C;ENSP00000444429:R79C	ENSP00000341844:R349C	R	-	1	0	PARD3	34711828	1.000000	0.71417	0.995000	0.50966	0.993000	0.82548	5.213000	0.65230	1.417000	0.47077	0.650000	0.86243	CGT		0.378	PARD3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047527.1	NM_019619		42	51	0	0	0	1	0	42	51					A	34671822	G	A	34671822	3	1	435	1	0	0	0	0	1	0	0	0	11443	1087	38	1	3128	1	PARD3	10	34671822	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	1179923	34671822	100862925	4649	25574											
PARD3	56288	broad.mit.edu	37	chr10	34759156	34759156	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agtggagaggccaattagagCtgggtcactactgcgtcgaa	11	8	14	8	2	1	2	1	0	0	2	2	4	1	2	1	3	3	1	1	3	4	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:34759156C>T	ENST00000374789.3	-	4	764	c.439G>A	c.(439-441)Gct>Act	p.A147T	PARD3_ENST00000545260.1_Missense_Mutation_p.A147T|PARD3_ENST00000374794.3_Missense_Mutation_p.A147T|PARD3_ENST00000340077.5_Missense_Mutation_p.A147T|PARD3_ENST00000350537.4_Missense_Mutation_p.A147T|PARD3_ENST00000346874.4_Missense_Mutation_p.A147T|PARD3_ENST00000374790.3_Missense_Mutation_p.A147T|PARD3_ENST00000374773.1_Missense_Mutation_p.A147T|PARD3_ENST00000374788.3_Missense_Mutation_p.A147T|PARD3_ENST00000545693.1_Missense_Mutation_p.A147T|PARD3_ENST00000374776.1_Missense_Mutation_p.A147T	NM_019619.3	NP_062565.2	Q8TEW0	PARD3_HUMAN	par-3 family cell polarity regulator	147					apical constriction (GO:0003383)|asymmetric cell division (GO:0008356)|axonogenesis (GO:0007409)|cell cycle (GO:0007049)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|centrosome localization (GO:0051642)|establishment of epithelial cell polarity (GO:0090162)|establishment or maintenance of cell polarity (GO:0007163)|microtubule cytoskeleton organization (GO:0000226)|myelination in peripheral nervous system (GO:0022011)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|positive regulation of myelination (GO:0031643)|protein complex assembly (GO:0006461)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein targeting to membrane (GO:0006612)|regulation of actin filament-based process (GO:0032970)|regulation of cellular localization (GO:0060341)|tight junction assembly (GO:0070830)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing, spreading of cells (GO:0044319)	apical part of cell (GO:0045177)|axonal growth cone (GO:0044295)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|internode region of axon (GO:0033269)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|spindle (GO:0005819)|tight junction (GO:0005923)	phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	63		Breast(68;0.0707)				CCAATTAGAGCTGGGTCACTA	0.423																																						ENST00000374789.3																			0				NS(2)|breast(4)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	63						c.(439-441)Gct>Act		par-3 family cell polarity regulator							122	121	121					10																	34759156		2203	4300	6503	SO:0001583	missense	56288				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|asymmetric cell division|axonogenesis|cell cycle|establishment of epithelial cell polarity|protein complex assembly|protein targeting to membrane|tight junction assembly	cell cortex|cytoskeleton|cytosol|endomembrane system|tight junction	phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|protein binding	g.chr10:34759156C>T	AF252293	CCDS7178.1, CCDS53509.1, CCDS53510.1, CCDS53511.1, CCDS53512.1, CCDS53513.1, CCDS53514.1, CCDS53515.1, CCDS53516.1	10p11.22	2014-06-13	2013-08-28		ENSG00000148498	ENSG00000148498			16051	protein-coding gene	gene with protein product	"atypical PKC isotype-specific interacting protein", "par-3 family cell polarity regulator alpha", "protein phosphatase 1, regulatory subunit 118"	606745	"par-3 (partitioning defective 3, C.elegans) homolog", "par-3 partitioning defective 3 homolog (C. elegans)"			10934474	Standard	NM_001184790		Approved	PAR3, PARD3A, Bazooka, Baz, ASIP, PPP1R118	uc010qej.2	Q8TEW0	OTTHUMG00000017948	ENST00000374789.3:c.439G>A	10.37:g.34759156C>T	ENSP00000363921:p.Ala147Thr					PARD3_ENST00000374794.3_Missense_Mutation_p.A147T|PARD3_ENST00000350537.4_Missense_Mutation_p.A147T|PARD3_ENST00000374788.3_Missense_Mutation_p.A147T|PARD3_ENST00000374773.1_Missense_Mutation_p.A147T|PARD3_ENST00000545693.1_Missense_Mutation_p.A147T|PARD3_ENST00000374776.1_Missense_Mutation_p.A147T|PARD3_ENST00000346874.4_Missense_Mutation_p.A147T|PARD3_ENST00000374790.3_Missense_Mutation_p.A147T|PARD3_ENST00000545260.1_Missense_Mutation_p.A147T|PARD3_ENST00000340077.5_Missense_Mutation_p.A147T	p.A147T	NM_019619.3	NP_062565.2	Q8TEW0	PARD3_HUMAN			4	764	-		Breast(68;0.0707)	147					F5H5T0|Q5T2U1|Q5VUA2|Q5VUA3|Q5VWV0|Q5VWV1|Q5VWV3|Q5VWV4|Q5VWV5|Q6IQ47|Q8TCZ9|Q8TEW1|Q8TEW2|Q8TEW3|Q96K28|Q96RM6|Q96RM7|Q9BY57|Q9BY58|Q9HC48|Q9NWL4|Q9NYE6	Missense_Mutation	SNP	ENST00000374789.3	37	c.439G>A	CCDS7178.1	.	.	.	.	.	.	.	.	.	.	C	28.0	4.877853	0.91664	.	.	ENSG00000148498	ENST00000545693;ENST00000545260;ENST00000374789;ENST00000374788;ENST00000346874;ENST00000374794;ENST00000350537;ENST00000374790;ENST00000374776;ENST00000340077;ENST00000374773	T;T;T;T;T;T;T;T;T;T;T	0.20738	2.41;2.38;2.47;2.46;2.5;2.36;2.43;2.37;2.08;2.05;2.14	6.03	6.03	0.97812	.	0.045192	0.85682	D	0.000000	T	0.40322	0.1112	L	0.38531	1.155	0.80722	D	1	P;D;D;D;D;D;D;P;D;D;D;D;D	0.76494	0.94;0.999;0.998;0.997;0.998;0.987;0.997;0.855;0.985;0.995;0.987;0.984;0.987	P;D;D;D;D;P;D;P;P;P;P;P;P	0.87578	0.734;0.994;0.998;0.946;0.998;0.869;0.946;0.574;0.826;0.885;0.869;0.878;0.869	T	0.02345	-1.1173	10	0.46703	T	0.11	.	20.1617	0.98138	0.0:1.0:0.0:0.0	.	147;147;147;147;147;147;147;147;147;147;147;147;147	Q8TEW0-5;Q8TEW0-3;Q8TEW0-7;Q8TEW0-6;F5H5T0;Q8TEW0-4;Q8TEW0-2;Q8TEW0;Q5VWV2;Q6IQ47;Q8TEW0-8;Q8TEW0-9;Q8TEW0-10	.;.;.;.;.;.;.;PARD3_HUMAN;.;.;.;.;.	T	147	ENSP00000443147:A147T;ENSP00000440857:A147T;ENSP00000363921:A147T;ENSP00000363920:A147T;ENSP00000340591:A147T;ENSP00000363926:A147T;ENSP00000311986:A147T;ENSP00000363922:A147T;ENSP00000363908:A147T;ENSP00000341844:A147T;ENSP00000363905:A147T	ENSP00000341844:A147T	A	-	1	0	PARD3	34799162	1.000000	0.71417	0.997000	0.53966	0.974000	0.67602	5.249000	0.65427	2.854000	0.98071	0.655000	0.94253	GCT		0.423	PARD3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047527.1	NM_019619		4	97	0	0	0	1	0	4	97					T	34759156	C	T	34759156	3	4	435	1	0	0	0	0	1	0	0	0	11443	797	28	3	3754	3	PARD3	10	34759156	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	87334	34759156	100775591	4650	25575											
CREM	1390	broad.mit.edu	37	chr10	35495960	35495960	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aagcaacacgcaaacgagagCtgaggctaatgaaaaacagg	19	3	11	8	2	0	3	0	2	0	1	0	4	0	3	0	2	5	4	0	2	6	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:35495960C>T	ENST00000395895.2	+	9	1081	c.919C>T	c.(919-921)Ctg>Ttg	p.L307L	CREM_ENST00000348787.2_Silent_p.L167L|CREM_ENST00000361599.4_Silent_p.L216L|CREM_ENST00000463960.1_Silent_p.L140L|CREM_ENST00000439705.1_Silent_p.L232L|CREM_ENST00000374734.3_Silent_p.L183L|CREM_ENST00000333809.8_Silent_p.L295L|CREM_ENST00000488328.1_Silent_p.L55L|CREM_ENST00000356917.5_Silent_p.L55L|CREM_ENST00000337656.4_Silent_p.L246L|CREM_ENST00000374721.3_Silent_p.L216L|CREM_ENST00000484283.1_Silent_p.L165L|CREM_ENST00000354759.3_Silent_p.L195L|CREM_ENST00000463314.1_Silent_p.L84L|CREM_ENST00000374728.3_Silent_p.L167L|CREM_ENST00000488741.1_Silent_p.L49L|CREM_ENST00000487763.1_Silent_p.L67L|CREM_ENST00000479070.1_Silent_p.L258L|CREM_ENST00000395887.3_Silent_p.L228L|CREM_ENST00000345491.3_Silent_p.L246L|CREM_ENST00000474931.1_Silent_p.L59L|CREM_ENST00000429130.3_Silent_p.L291L|CREM_ENST00000342105.3_Silent_p.L191L|CREM_ENST00000474362.1_Silent_p.L42L|CREM_ENST00000473940.1_Silent_p.L67L|CREM_ENST00000344351.5_Silent_p.L42L|CREM_ENST00000468236.1_Silent_p.L71L|CREM_ENST00000460270.1_Silent_p.L42L|CREM_ENST00000490511.1_Silent_p.L59L			Q03060	CREM_HUMAN	cAMP responsive element modulator	307	Basic motif. {ECO:0000255|PROSITE- ProRule:PRU00978}.|bZIP. {ECO:0000255|PROSITE- ProRule:PRU00978}.				cell differentiation (GO:0030154)|glycosphingolipid metabolic process (GO:0006687)|multicellular organismal development (GO:0007275)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|rhythmic process (GO:0048511)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	cAMP response element binding protein binding (GO:0008140)|DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)	14						CAAACGAGAGCTGAGGCTAAT	0.522																																						ENST00000333809.8																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)	14						c.(883-885)Ctg>Ttg		cAMP responsive element modulator							83	80	81					10																	35495960		2203	4300	6503	SO:0001819	synonymous_variant	1390				cell differentiation|multicellular organismal development|signal transduction|spermatogenesis	nucleus	cAMP response element binding protein binding|protein binding|protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr10:35495960C>T		CCDS7180.1, CCDS7181.1, CCDS7182.1, CCDS7183.1, CCDS7184.1, CCDS7185.1, CCDS7186.1, CCDS7187.1, CCDS7188.1, CCDS31181.1, CCDS53519.1, CCDS53520.1, CCDS53517.1, CCDS53518.1, CCDS53521.1, CCDS58074.1, CCDS58075.1, CCDS58076.1	10p12.1-p11.1	2013-01-10			ENSG00000095794	ENSG00000095794		"basic leucine zipper proteins"	2352	protein-coding gene	gene with protein product		123812				1461747, 7916662	Standard	NM_182717		Approved	hCREM-2	uc001iyb.3	Q03060	OTTHUMG00000017953	ENST00000395895.2:c.919C>T	10.37:g.35495960C>T						CREM_ENST00000345491.3_Silent_p.L246L|CREM_ENST00000474362.1_Silent_p.L42L|CREM_ENST00000473940.1_Silent_p.L67L|CREM_ENST00000344351.5_Silent_p.L42L|CREM_ENST00000479070.1_Silent_p.L258L|CREM_ENST00000374728.3_Silent_p.L167L|CREM_ENST00000374734.3_Silent_p.L183L|CREM_ENST00000374721.3_Silent_p.L216L|CREM_ENST00000490511.1_Silent_p.L59L|CREM_ENST00000361599.4_Silent_p.L216L|CREM_ENST00000468236.1_Silent_p.L71L|CREM_ENST00000342105.3_Silent_p.L191L|CREM_ENST00000463314.1_Silent_p.L84L|CREM_ENST00000474931.1_Silent_p.L59L|CREM_ENST00000488741.1_Silent_p.L49L|CREM_ENST00000488328.1_Silent_p.L55L|CREM_ENST00000460270.1_Silent_p.L42L|CREM_ENST00000487763.1_Silent_p.L67L|CREM_ENST00000484283.1_Silent_p.L165L|CREM_ENST00000439705.1_Silent_p.L232L|CREM_ENST00000429130.3_Silent_p.L291L|CREM_ENST00000395887.3_Silent_p.L228L|CREM_ENST00000356917.5_Silent_p.L55L|CREM_ENST00000395895.2_Silent_p.L307L|CREM_ENST00000337656.4_Silent_p.L246L|CREM_ENST00000354759.3_Silent_p.L195L|CREM_ENST00000463960.1_Silent_p.L140L|CREM_ENST00000348787.2_Silent_p.L167L	p.L295L	NM_183011.1	NP_898829.1	Q03060	CREM_HUMAN			7	937	+			307					A8K014|A8K3J7|A8K6A1|A8MPQ2|B4DXC1|C9J785|C9JZ10|E9PAR4|E9PHM1|O75519|Q14501|Q14503|Q14504|Q14505|Q14506|Q15731|Q16114|Q16116|Q5T9H7|Q5W1A6|Q5W1A7|Q5W1A8|Q5W1A9|Q5W1B0|Q5W1B2|Q7Z2Q6|Q8IVD4|Q96AG7|Q9NZ98|Q9NZ99|Q9NZB9	Silent	SNP	ENST00000395895.2	37	c.883C>T																																																																																					0.522	CREM-203	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001881		24	38	0	0	0	1	0	24	38					T	35495960	C	T	35495960	2	4	435	1	0	0	0	0	0	0	0	1	3868	796	28	3		3	CREM	10	35495960	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	736804	35495960	100038787	4651	25576											
ANKRD30A	91074	broad.mit.edu	37	chr10	37430806	37430806	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtggaaaaaacacctgatgaGgctgcatccttggtggaggg	11	8	15	7	0	0	2	0	2	0	0	1	4	1	4	2	5	2	2	2	5	3	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:37430806G>A	ENST00000602533.1	+	7	912	c.813G>A	c.(811-813)gaG>gaA	p.E271E	ANKRD30A_ENST00000374660.1_Silent_p.E271E|ANKRD30A_ENST00000361713.1_Silent_p.E271E			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	327					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						CACCTGATGAGGCTGCATCCT	0.473																																						ENST00000374660.1																			0				NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						c.(811-813)gaG>gaA		ankyrin repeat domain 30A							63	64	64					10																	37430806		1882	4124	6006	SO:0001819	synonymous_variant	91074					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr10:37430806G>A	AF269087	CCDS7193.1	10p11.21	2013-01-10			ENSG00000148513	ENSG00000148513		"Ankyrin repeat domain containing"	17234	protein-coding gene	gene with protein product	"breast cancer antigen NY-BR-1"	610856				11280766	Standard	NM_052997		Approved	NY-BR-1	uc001iza.1	Q9BXX3	OTTHUMG00000017968	ENST00000602533.1:c.813G>A	10.37:g.37430806G>A						ANKRD30A_ENST00000361713.1_Silent_p.E271E|ANKRD30A_ENST00000602533.1_Silent_p.E271E	p.E271E			Q9BXX3	AN30A_HUMAN			7	912	+			327					Q5W025	Silent	SNP	ENST00000602533.1	37	c.813G>A																																																																																					0.473	ANKRD30A-001	KNOWN	NMD_exception|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000047588.2	NM_052997		15	9	0	0	0	1	0	15	9					A	37430806	G	A	37430806	2	1	435	1	0	0	0	0	0	0	0	1	658	991	35	3		3	ANKRD30A	10	37430806	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	1934846	37430806	98103941	4652	25577											
ZNF37A	7587	broad.mit.edu	37	chr10	38406981	38406981	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agggggaaaaccctatgaatGtcatgaatgtgggaagacct	14	8	13	6	0	1	3	1	2	0	1	1	5	1	5	2	3	1	0	2	3	6	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:38406981G>A	ENST00000361085.5	+	7	1247	c.902G>A	c.(901-903)tGt>tAt	p.C301Y	ZNF37A_ENST00000351773.3_Missense_Mutation_p.C301Y	NM_001178101.1|NM_003421.2	NP_001171572.1|NP_003412.1	P17032	ZN37A_HUMAN	zinc finger protein 37A	301					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|prostate(1)	28						CCCTATGAATGTCATGAATGT	0.408																																						ENST00000351773.3																			0				NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|prostate(1)	28						c.(901-903)tGt>tAt		zinc finger protein 37A							68	71	70					10																	38406981		2203	4299	6502	SO:0001583	missense	7587					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr10:38406981G>A	X69115	CCDS31183.1	10p11.2	2013-01-08	2006-05-11		ENSG00000075407	ENSG00000075407		"Zinc fingers, C2H2-type", "-"	13102	protein-coding gene	gene with protein product			"zinc finger protein 37a (KOX 21)"			2014798, 8464732	Standard	NM_001178101		Approved	KOX21, ZNF37	uc001izl.3	P17032	OTTHUMG00000017990	ENST00000361085.5:c.902G>A	10.37:g.38406981G>A	ENSP00000354377:p.Cys301Tyr					ZNF37A_ENST00000361085.4_Missense_Mutation_p.C301Y	p.C301Y	NM_001007094.2	NP_001007095.1	P17032	ZN37A_HUMAN			8	1732	+			301					B3KRQ3|D3DRZ3|Q96B88	Missense_Mutation	SNP	ENST00000361085.5	37	c.902G>A	CCDS31183.1	.	.	.	.	.	.	.	.	.	.	G	12.91	2.080503	0.36662	.	.	ENSG00000075407	ENST00000351773;ENST00000361085	D;D	0.85088	-1.94;-1.94	2.34	2.34	0.29019	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.94453	0.8215	H	0.98111	4.15	0.41335	D	0.987264	D	0.89917	1.0	D	0.97110	1.0	D	0.94684	0.7868	9	0.87932	D	0	.	10.3666	0.44028	0.0:0.0:1.0:0.0	.	301	P17032	ZN37A_HUMAN	Y	301	ENSP00000329141:C301Y;ENSP00000354377:C301Y	ENSP00000329141:C301Y	C	+	2	0	ZNF37A	38446987	1.000000	0.71417	0.888000	0.34837	0.239000	0.25481	7.358000	0.79466	1.313000	0.45069	0.591000	0.81541	TGT		0.408	ZNF37A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047624.2	NM_003421		41	58	0	0	0	1	0	41	58					A	38406981	G	A	38406981	3	1	435	1	0	0	0	0	1	0	0	0	17869	1377	48	3	916	3	ZNF37A	10	38406981	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	976175	38406981	97127766	4653	25578											
ZNF33B	7582	broad.mit.edu	37	chr10	43088557	43088557	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctggcagaaggtttttccaCattcattacattcatagggt	10	15	8	8	0	3	1	2	0	1	1	4	1	4	1	1	3	1	2	1	3	3	6			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:43088557C>T	ENST00000359467.3	-	5	1955	c.1841G>A	c.(1840-1842)tGt>tAt	p.C614Y	ZNF33B_ENST00000486187.1_RNA	NM_006955.1	NP_008886.1	Q06732	ZN33B_HUMAN	zinc finger protein 33B	614					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(15)|skin(1)|stomach(1)	29						GGTTTTTCCACATTCATTACA	0.363																																					Melanoma(137;1247 1767 16772 25727 43810)	ENST00000359467.3																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(15)|skin(1)|stomach(1)	29						c.(1840-1842)tGt>tAt		zinc finger protein 33B							93	91	92					10																	43088557		2203	4300	6503	SO:0001583	missense	7582					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr10:43088557C>T	X68688, AJ491697	CCDS7198.1	10q11.2	2013-01-08	2005-03-18		ENSG00000196693	ENSG00000196693		"Zinc fingers, C2H2-type", "-"	13097	protein-coding gene	gene with protein product		194522	"zinc finger protein 33b (KOX 31)", "zinc finger protein 11B"	ZNF11B		2014798	Standard	NM_006955		Approved	KOX31, KOX2	uc001jaf.1	Q06732	OTTHUMG00000018014	ENST00000359467.3:c.1841G>A	10.37:g.43088557C>T	ENSP00000352444:p.Cys614Tyr					ZNF33B_ENST00000486187.1_RNA	p.C614Y	NM_006955.1	NP_008886.1	Q06732	ZN33B_HUMAN			5	1955	-			614					Q06731|Q32MA2|Q86XY8|Q8NDW3	Missense_Mutation	SNP	ENST00000359467.3	37	c.1841G>A	CCDS7198.1	.	.	.	.	.	.	.	.	.	.	C	15.84	2.952204	0.53293	.	.	ENSG00000196693	ENST00000359467;ENST00000395836	D	0.85861	-2.04	2.46	2.46	0.29980	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.36893	N	0.002352	D	0.93602	0.7957	H	0.95712	3.71	0.38019	D	0.93477	D	0.89917	1.0	D	0.91635	0.999	D	0.94946	0.8095	10	0.66056	D	0.02	.	11.1092	0.48221	0.0:1.0:0.0:0.0	.	614	Q06732	ZN33B_HUMAN	Y	614;580	ENSP00000352444:C614Y	ENSP00000352444:C614Y	C	-	2	0	ZNF33B	42408563	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	6.303000	0.72794	1.711000	0.51337	0.409000	0.27619	TGT		0.363	ZNF33B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_006955		34	53	0	0	0	1	0	34	53					T	43088557	C	T	43088557	3	4	435	1	0	0	0	0	1	0	0	0	17852	478	17	3	499	3	ZNF33B	10	43088557	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	4681576	43088557	92446190	4654	25579											
BMS1	9790	broad.mit.edu	37	chr10	43319071	43319071	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tttcagatattgtcttcatgCgaacttggtatcctgtttcc	7	18	7	9	1	3	1	2	0	1	1	5	2	5	1	2	1	2	2	2	1	3	7			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:43319071C>T	ENST00000374518.5	+	21	3358	c.3295C>T	c.(3295-3297)Cga>Tga	p.R1099*		NM_014753.3	NP_055568.3	Q14692	BMS1_HUMAN	BMS1 ribosome biogenesis factor	1099					ribosome assembly (GO:0042255)	nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(23)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						TGTCTTCATGCGAACTTGGTA	0.388																																						ENST00000374518.4																			0				NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(23)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						c.(3295-3297)Cga>Tga		BMS1 ribosome biogenesis factor							63	75	70					10																	43319071		1356	2309	3665	SO:0001587	stop_gained	9790				ribosome assembly	nucleolus	ATP binding|GTP binding|GTPase activity	g.chr10:43319071C>T	BC043345	CCDS7199.1	10q11.21	2013-05-01	2013-05-01	2007-03-20	ENSG00000165733	ENSG00000165733			23505	protein-coding gene	gene with protein product		611448	"BMS1-like, ribosome assembly protein (yeast)", "BMS1 homolog, ribosome assembly protein (yeast)"	BMS1L		11779832	Standard	NM_014753		Approved	KIAA0187	uc001jaj.3	Q14692	OTTHUMG00000018020	ENST00000374518.5:c.3295C>T	10.37:g.43319071C>T	ENSP00000363642:p.Arg1099*						p.R1099*	NM_014753.3	NP_055568.3	Q14692	BMS1_HUMAN			21	3358	+			1099					Q5QPT5|Q86XJ9	Nonsense_Mutation	SNP	ENST00000374518.5	37	c.3295C>T	CCDS7199.1	.	.	.	.	.	.	.	.	.	.	C	41	9.109602	0.99068	.	.	ENSG00000165733	ENST00000374518	.	.	.	4.54	3.58	0.41010	.	0.069209	0.64402	D	0.000020	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.8245	0.52259	0.5039:0.4961:0.0:0.0	.	.	.	.	X	1099	.	ENSP00000363642:R1099X	R	+	1	2	BMS1	42639077	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	3.127000	0.50484	0.896000	0.36366	0.454000	0.30748	CGA		0.388	BMS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047690.2	NM_014753		14	35	0	0	0	1	0	14	35					T	43319071	C	T	43319071	4	4	435	1	0	0	0	0	0	1	0	0	1472	760	27	1	3373	1	BMS1	10	43319071	Nonsense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	230514	43319071	92215676	4655	25580											
BMS1	9790	broad.mit.edu	37	chr10	43325850	43325850	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggcggagaccggccgtcataCgcgagcctcatgaaagaaag	12	4	14	11	5	2	3	2	1	0	2	2	5	2	3	3	3	2	0	3	3	3	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:43325850C>T	ENST00000374518.5	+	22	3661	c.3598C>T	c.(3598-3600)Cgc>Tgc	p.R1200C	RNU6-885P_ENST00000516607.1_RNA	NM_014753.3	NP_055568.3	Q14692	BMS1_HUMAN	BMS1 ribosome biogenesis factor	1200					ribosome assembly (GO:0042255)	nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)	p.R1200G(1)		NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(23)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						GGCCGTCATACGCGAGCCTCA	0.512																																						ENST00000374518.4																			1	Substitution - Missense(1)	p.R1200G(1)	ovary(1)	NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(23)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						c.(3598-3600)Cgc>Tgc		BMS1 ribosome biogenesis factor							54	55	55					10																	43325850		2203	4300	6503	SO:0001583	missense	9790				ribosome assembly	nucleolus	ATP binding|GTP binding|GTPase activity	g.chr10:43325850C>T	BC043345	CCDS7199.1	10q11.21	2013-05-01	2013-05-01	2007-03-20	ENSG00000165733	ENSG00000165733			23505	protein-coding gene	gene with protein product		611448	"BMS1-like, ribosome assembly protein (yeast)", "BMS1 homolog, ribosome assembly protein (yeast)"	BMS1L		11779832	Standard	NM_014753		Approved	KIAA0187	uc001jaj.3	Q14692	OTTHUMG00000018020	ENST00000374518.5:c.3598C>T	10.37:g.43325850C>T	ENSP00000363642:p.Arg1200Cys						p.R1200C	NM_014753.3	NP_055568.3	Q14692	BMS1_HUMAN			22	3661	+			1200					Q5QPT5|Q86XJ9	Missense_Mutation	SNP	ENST00000374518.5	37	c.3598C>T	CCDS7199.1	.	.	.	.	.	.	.	.	.	.	C	18.61	3.660764	0.67700	.	.	ENSG00000165733	ENST00000374518	T	0.26957	1.7	4.78	-1.25	0.09405	.	0.068390	0.53938	D	0.000048	T	0.39733	0.1089	M	0.80183	2.485	0.43287	D	0.995266	D	0.76494	0.999	P	0.56088	0.791	T	0.38200	-0.9672	10	0.38643	T	0.18	.	10.9474	0.47308	0.6134:0.2948:0.0918:0.0	.	1200	Q14692	BMS1_HUMAN	C	1200	ENSP00000363642:R1200C	ENSP00000363642:R1200C	R	+	1	0	BMS1	42645856	0.988000	0.35896	0.828000	0.32881	0.873000	0.50193	1.471000	0.35365	-0.095000	0.12351	0.306000	0.20318	CGC		0.512	BMS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047690.2	NM_014753		21	30	0	0	0	1	0	21	30					T	43325850	C	T	43325850	3	4	435	1	0	0	0	0	1	0	0	0	1472	536	19	1	3680	1	BMS1	10	43325850	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	6779	43325850	92208897	4656	25581											
RET	5979	broad.mit.edu	37	chr10	43597841	43597841	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caaggtcttcctgtcacccaCatcccttcgtgagggcgagt	7	10	10	14	2	2	1	1	1	1	0	5	2	4	1	3	2	0	0	3	2	1	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:43597841C>T	ENST00000355710.3	+	3	621	c.389C>T	c.(388-390)aCa>aTa	p.T130I	RET_ENST00000340058.5_Missense_Mutation_p.T130I	NM_020975.4	NP_066124.1	P07949	RET_HUMAN	ret proto-oncogene	130					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|cellular response to retinoic acid (GO:0071300)|embryonic epithelial tube formation (GO:0001838)|enteric nervous system development (GO:0048484)|homophilic cell adhesion (GO:0007156)|innervation (GO:0060384)|lymphocyte migration into lymphoid organs (GO:0097021)|MAPK cascade (GO:0000165)|membrane protein proteolysis (GO:0033619)|neural crest cell migration (GO:0001755)|neuron cell-cell adhesion (GO:0007158)|neuron maturation (GO:0042551)|peptidyl-tyrosine phosphorylation (GO:0018108)|Peyer's patch morphogenesis (GO:0061146)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cell migration (GO:0030335)|positive regulation of cell size (GO:0045793)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of metanephric glomerulus development (GO:0072300)|positive regulation of neuron maturation (GO:0014042)|positive regulation of neuron projection development (GO:0010976)|positive regulation of transcription, DNA-templated (GO:0045893)|posterior midgut development (GO:0007497)|protein phosphorylation (GO:0006468)|regulation of axonogenesis (GO:0050770)|regulation of cell adhesion (GO:0030155)|response to drug (GO:0042493)|response to pain (GO:0048265)|retina development in camera-type eye (GO:0060041)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|ureter maturation (GO:0035799)|ureteric bud development (GO:0001657)	endosome membrane (GO:0010008)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|protein tyrosine kinase activity (GO:0004713)|receptor activity (GO:0004872)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)		CCDC6/RET(4)|KIF5B/RET(79)	NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1)	607		Ovarian(717;0.0423)			Cabozantinib(DB08875)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)	CTGTCACCCACATCCCTTCGT	0.622		1	"T, Mis, N, F"	"H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6"	"medullary thyroid,  papillary thyroid, pheochromocytoma, NSCLC"	"medullary thyroid,  papillary thyroid, pheochromocytoma"	Hirschsprung disease		Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma																												Melanoma(102;360 522 3376 9752 9881 14372 17251 18341 20876 24662 34807 43144 48149)	ENST00000355710.3		1	yes	Dom	yes	Multiple endocrine neoplasia 2A/2B	10	10q11.2	5979	"T, Mis, N, F"	ret proto-oncogene	yes	Hirschsprung disease	"E, O"	"H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6"	"medullary thyroid,  papillary thyroid, pheochromocytoma"	"medullary thyroid,  papillary thyroid, pheochromocytoma, NSCLC"	CCDC6/RET(4)|KIF5B/RET(79)	0				NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1)	607						c.(388-390)aCa>aTa		ret proto-oncogene	Sunitinib(DB01268)						134	117	123					10																	43597841		2203	4300	6503	SO:0001583	missense	5979	Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma	Familial Cancer Database	MEN2B, Wagenmann-Froboese s.;MEN2A, Sipple disease, incl MEN2C;FMTC	homophilic cell adhesion|positive regulation of metanephric glomerulus development|positive regulation of transcription, DNA-dependent|posterior midgut development	integral to membrane	ATP binding|calcium ion binding|transmembrane receptor protein tyrosine kinase activity	g.chr10:43597841C>T	BC004257	CCDS7200.1, CCDS53525.1	10q11.2	2014-09-17	2007-02-16		ENSG00000165731	ENSG00000165731		"Cadherins / Cadherin-related"	9967	protein-coding gene	gene with protein product	"cadherin-related family member 16"	164761	"multiple endocrine neoplasia and medullary thyroid carcinoma 1", "Hirschsprung disease 1"	HSCR1, MEN2A, MTC1, MEN2B		2687772, 1611909	Standard	NM_020975		Approved	PTC, CDHF12, RET51, CDHR16	uc001jal.3	P07949	OTTHUMG00000018024	ENST00000355710.3:c.389C>T	10.37:g.43597841C>T	ENSP00000347942:p.Thr130Ile					RET_ENST00000340058.5_Missense_Mutation_p.T130I	p.T130I	NM_020975.4	NP_066124.1	P07949	RET_HUMAN			3	621	+		Ovarian(717;0.0423)	130					A8K6Z2|Q15250|Q9BTB0|Q9H4A2	Missense_Mutation	SNP	ENST00000355710.3	37	c.389C>T	CCDS7200.1	.	.	.	.	.	.	.	.	.	.	C	2.645	-0.283351	0.05642	.	.	ENSG00000165731	ENST00000355710;ENST00000340058;ENST00000535749	T;T	0.79247	-1.13;-1.25	5.09	-1.35	0.09114	.	1.261060	0.05052	N	0.478369	T	0.65217	0.2670	L	0.43152	1.355	0.09310	N	1	B;B	0.24483	0.063;0.104	B;B	0.23018	0.019;0.043	T	0.46952	-0.9154	10	0.38643	T	0.18	.	0.4349	0.00477	0.2461:0.2939:0.1281:0.3319	.	130;130	P07949;P07949-2	RET_HUMAN;.	I	130	ENSP00000347942:T130I;ENSP00000344798:T130I	ENSP00000344798:T130I	T	+	2	0	RET	42917847	0.002000	0.14202	0.000000	0.03702	0.019000	0.09904	1.654000	0.37334	-0.113000	0.11958	-0.793000	0.03317	ACA		0.622	RET-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047694.2	NM_020975		25	32	0	0	0	1	0	25	32					T	43597841	C	T	43597841	3	4	435	1	0	0	0	0	1	0	0	0	13235	478	17	3	399	3	RET	10	43597841	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	271991	43597841	91936906	4657	25582											
RET	5979	broad.mit.edu	37	chr10	43597968	43597968	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcttcccagagacaaggccCtccttccgcattcgggagaa	9	8	10	14	2	0	2	0	0	0	2	4	4	3	2	4	2	1	2	4	2	2	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:43597968C>A	ENST00000355710.3	+	3	748	c.516C>A	c.(514-516)ccC>ccA	p.P172P	RET_ENST00000340058.5_Silent_p.P172P	NM_020975.4	NP_066124.1	P07949	RET_HUMAN	ret proto-oncogene	172	Cadherin. {ECO:0000255|PROSITE- ProRule:PRU00043}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|cellular response to retinoic acid (GO:0071300)|embryonic epithelial tube formation (GO:0001838)|enteric nervous system development (GO:0048484)|homophilic cell adhesion (GO:0007156)|innervation (GO:0060384)|lymphocyte migration into lymphoid organs (GO:0097021)|MAPK cascade (GO:0000165)|membrane protein proteolysis (GO:0033619)|neural crest cell migration (GO:0001755)|neuron cell-cell adhesion (GO:0007158)|neuron maturation (GO:0042551)|peptidyl-tyrosine phosphorylation (GO:0018108)|Peyer's patch morphogenesis (GO:0061146)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cell migration (GO:0030335)|positive regulation of cell size (GO:0045793)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of metanephric glomerulus development (GO:0072300)|positive regulation of neuron maturation (GO:0014042)|positive regulation of neuron projection development (GO:0010976)|positive regulation of transcription, DNA-templated (GO:0045893)|posterior midgut development (GO:0007497)|protein phosphorylation (GO:0006468)|regulation of axonogenesis (GO:0050770)|regulation of cell adhesion (GO:0030155)|response to drug (GO:0042493)|response to pain (GO:0048265)|retina development in camera-type eye (GO:0060041)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|ureter maturation (GO:0035799)|ureteric bud development (GO:0001657)	endosome membrane (GO:0010008)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|protein tyrosine kinase activity (GO:0004713)|receptor activity (GO:0004872)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)		CCDC6/RET(4)|KIF5B/RET(79)	NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1)	607		Ovarian(717;0.0423)			Cabozantinib(DB08875)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)	AGACAAGGCCCTCCTTCCGCA	0.627		1	"T, Mis, N, F"	"H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6"	"medullary thyroid,  papillary thyroid, pheochromocytoma, NSCLC"	"medullary thyroid,  papillary thyroid, pheochromocytoma"	Hirschsprung disease		Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma																												Melanoma(102;360 522 3376 9752 9881 14372 17251 18341 20876 24662 34807 43144 48149)	ENST00000355710.3		1	yes	Dom	yes	Multiple endocrine neoplasia 2A/2B	10	10q11.2	5979	"T, Mis, N, F"	ret proto-oncogene	yes	Hirschsprung disease	"E, O"	"H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6"	"medullary thyroid,  papillary thyroid, pheochromocytoma"	"medullary thyroid,  papillary thyroid, pheochromocytoma, NSCLC"	CCDC6/RET(4)|KIF5B/RET(79)	0				NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1)	607						c.(514-516)ccC>ccA		ret proto-oncogene	Sunitinib(DB01268)						102	84	90					10																	43597968		2203	4300	6503	SO:0001819	synonymous_variant	5979	Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma	Familial Cancer Database	MEN2B, Wagenmann-Froboese s.;MEN2A, Sipple disease, incl MEN2C;FMTC	homophilic cell adhesion|positive regulation of metanephric glomerulus development|positive regulation of transcription, DNA-dependent|posterior midgut development	integral to membrane	ATP binding|calcium ion binding|transmembrane receptor protein tyrosine kinase activity	g.chr10:43597968C>A	BC004257	CCDS7200.1, CCDS53525.1	10q11.2	2014-09-17	2007-02-16		ENSG00000165731	ENSG00000165731		"Cadherins / Cadherin-related"	9967	protein-coding gene	gene with protein product	"cadherin-related family member 16"	164761	"multiple endocrine neoplasia and medullary thyroid carcinoma 1", "Hirschsprung disease 1"	HSCR1, MEN2A, MTC1, MEN2B		2687772, 1611909	Standard	NM_020975		Approved	PTC, CDHF12, RET51, CDHR16	uc001jal.3	P07949	OTTHUMG00000018024	ENST00000355710.3:c.516C>A	10.37:g.43597968C>A						RET_ENST00000340058.5_Silent_p.P172P	p.P172P	NM_020975.4	NP_066124.1	P07949	RET_HUMAN			3	748	+		Ovarian(717;0.0423)	172			Cadherin.		A8K6Z2|Q15250|Q9BTB0|Q9H4A2	Silent	SNP	ENST00000355710.3	37	c.516C>A	CCDS7200.1																																																																																				0.627	RET-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047694.2	NM_020975		8	16	1	0	0.00307968	1	0.00311927	8	16					A	43597968	C	A	43597968	2	1	435	1	0	0	0	0	0	0	0	1	13235	668	24	5		5	RET	10	43597968	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	127	43597968	91936779	4658	25583											
RET	5979	broad.mit.edu	37	chr10	43622199	43622199	+	Intron	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcccatgcatttactagattCtagcaccgctgtcccctttg	7	14	6	14	1	1	1	0	0	1	1	3	1	3	1	4	0	3	3	4	0	3	6			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:43622199C>T	ENST00000355710.3	+	19	3419				RET_ENST00000340058.5_Silent_p.F1072F	NM_020975.4	NP_066124.1	P07949	RET_HUMAN	ret proto-oncogene						activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|cellular response to retinoic acid (GO:0071300)|embryonic epithelial tube formation (GO:0001838)|enteric nervous system development (GO:0048484)|homophilic cell adhesion (GO:0007156)|innervation (GO:0060384)|lymphocyte migration into lymphoid organs (GO:0097021)|MAPK cascade (GO:0000165)|membrane protein proteolysis (GO:0033619)|neural crest cell migration (GO:0001755)|neuron cell-cell adhesion (GO:0007158)|neuron maturation (GO:0042551)|peptidyl-tyrosine phosphorylation (GO:0018108)|Peyer's patch morphogenesis (GO:0061146)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cell migration (GO:0030335)|positive regulation of cell size (GO:0045793)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of metanephric glomerulus development (GO:0072300)|positive regulation of neuron maturation (GO:0014042)|positive regulation of neuron projection development (GO:0010976)|positive regulation of transcription, DNA-templated (GO:0045893)|posterior midgut development (GO:0007497)|protein phosphorylation (GO:0006468)|regulation of axonogenesis (GO:0050770)|regulation of cell adhesion (GO:0030155)|response to drug (GO:0042493)|response to pain (GO:0048265)|retina development in camera-type eye (GO:0060041)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|ureter maturation (GO:0035799)|ureteric bud development (GO:0001657)	endosome membrane (GO:0010008)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|protein tyrosine kinase activity (GO:0004713)|receptor activity (GO:0004872)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)		CCDC6/RET(4)|KIF5B/RET(79)	NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1)	607		Ovarian(717;0.0423)			Cabozantinib(DB08875)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)	TTACTAGATTCTAGCACCGCT	0.443		1	"T, Mis, N, F"	"H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6"	"medullary thyroid,  papillary thyroid, pheochromocytoma, NSCLC"	"medullary thyroid,  papillary thyroid, pheochromocytoma"	Hirschsprung disease		Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma																												Melanoma(102;360 522 3376 9752 9881 14372 17251 18341 20876 24662 34807 43144 48149)	ENST00000340058.5		1	yes	Dom	yes	Multiple endocrine neoplasia 2A/2B	10	10q11.2	5979	"T, Mis, N, F"	ret proto-oncogene	yes	Hirschsprung disease	"E, O"	"H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6"	"medullary thyroid,  papillary thyroid, pheochromocytoma"	"medullary thyroid,  papillary thyroid, pheochromocytoma, NSCLC"	CCDC6/RET(4)|KIF5B/RET(79)	0				NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1)	607						c.(3214-3216)ttC>ttT		ret proto-oncogene	Sunitinib(DB01268)						59	58	58					10																	43622199		2203	4300	6503	SO:0001627	intron_variant	5979	Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma	Familial Cancer Database	MEN2B, Wagenmann-Froboese s.;MEN2A, Sipple disease, incl MEN2C;FMTC	homophilic cell adhesion|positive regulation of metanephric glomerulus development|positive regulation of transcription, DNA-dependent|posterior midgut development	integral to membrane	ATP binding|calcium ion binding|transmembrane receptor protein tyrosine kinase activity	g.chr10:43622199C>T	BC004257	CCDS7200.1, CCDS53525.1	10q11.2	2014-09-17	2007-02-16		ENSG00000165731	ENSG00000165731		"Cadherins / Cadherin-related"	9967	protein-coding gene	gene with protein product	"cadherin-related family member 16"	164761	"multiple endocrine neoplasia and medullary thyroid carcinoma 1", "Hirschsprung disease 1"	HSCR1, MEN2A, MTC1, MEN2B		2687772, 1611909	Standard	NM_020975		Approved	PTC, CDHF12, RET51, CDHR16	uc001jal.3	P07949	OTTHUMG00000018024	ENST00000355710.3:c.3187+29C>T	10.37:g.43622199C>T						RET_ENST00000355710.3_Intron	p.F1072F	NM_020630.4	NP_065681.1	P07949	RET_HUMAN			19	3396	+		Ovarian(717;0.0423)	0					A8K6Z2|Q15250|Q9BTB0|Q9H4A2	Silent	SNP	ENST00000355710.3	37	c.3216C>T	CCDS7200.1																																																																																				0.443	RET-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047694.2	NM_020975		6	9	0	0	0	1	0	6	9					T	43622199	C	T	43622199	1	4	435	0	1	0	0	0	0	0	0	0	13235	912	32	3		3	RET	10	43622199	Intron	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	24231	43622199	91912548	4659	25584											
ZNF485	220992	broad.mit.edu	37	chr10	44104711	44104711	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttatgaacagggcttctcTcttccaaaccaaaactaatt	13	13	4	11	0	2	1	0	1	2	0	4	1	3	1	2	1	3	1	2	1	6	6			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:44104711T>C	ENST00000361807.3	+	4	354	c.160T>C	c.(160-162)Tct>Cct	p.S54P	ZNF485_ENST00000374437.2_Intron|ZNF485_ENST00000374435.3_Missense_Mutation_p.S54P	NM_145312.3	NP_660355.2	Q8NCK3	ZN485_HUMAN	zinc finger protein 485	54	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1)	16						AGGGCTTCTCTCTTCCAAACC	0.473																																						ENST00000361807.3																			0				breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1)	16						c.(160-162)Tct>Cct		zinc finger protein 485							47	44	45					10																	44104711		2203	4300	6503	SO:0001583	missense	220992				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr10:44104711T>C	AK074679	CCDS7205.2	10q11.21	2013-01-08			ENSG00000198298	ENSG00000198298		"Zinc fingers, C2H2-type", "-"	23440	protein-coding gene	gene with protein product							Standard	NM_145312		Approved		uc010qfc.2	Q8NCK3	OTTHUMG00000018040	ENST00000361807.3:c.160T>C	10.37:g.44104711T>C	ENSP00000354694:p.Ser54Pro					ZNF485_ENST00000374437.2_Intron|ZNF485_ENST00000374435.3_Missense_Mutation_p.S54P	p.S54P	NM_145312.3	NP_660355.2	Q8NCK3	ZN485_HUMAN			4	354	+			54			KRAB.		B4DSE6|Q96CL0	Missense_Mutation	SNP	ENST00000361807.3	37	c.160T>C	CCDS7205.2	.	.	.	.	.	.	.	.	.	.	T	7.797	0.712905	0.15306	.	.	ENSG00000198298	ENST00000361807;ENST00000430885;ENST00000374435	T;T;T	0.00792	5.69;5.69;5.69	3.04	1.82	0.25136	Krueppel-associated box (3);	.	.	.	.	T	0.00468	0.0015	N	0.11651	0.15	0.09310	N	0.999999	D	0.54964	0.969	B	0.34991	0.193	T	0.55970	-0.8056	9	0.36615	T	0.2	.	6.0735	0.19903	0.0:0.0:0.2661:0.7339	.	54	Q8NCK3	ZN485_HUMAN	P	54	ENSP00000354694:S54P;ENSP00000393570:S54P;ENSP00000363558:S54P	ENSP00000354694:S54P	S	+	1	0	ZNF485	43424717	0.001000	0.12720	0.036000	0.18154	0.582000	0.36321	-0.415000	0.07106	0.346000	0.23899	0.374000	0.22700	TCT		0.473	ZNF485-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047719.2	NM_145312		8	10	0	0	0	1	0	8	10					C	44104711	T	C	44104711	3	2	435	1	0	0	0	0	1	0	0	0	17935	1551	54	4	170	4	ZNF485	10	44104711	Missense_Mutation	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	482512	44104711	91430036	4660	25585											
OR13A1	79290	broad.mit.edu	37	chr10	45799447	45799447	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cagcgggtggcagatggctgCgtaccggtcataggccatga	8	7	16	10	3	1	2	1	1	0	1	1	2	1	2	2	5	3	3	2	5	2	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:45799447C>T	ENST00000553795.1	-	4	732	c.424G>A	c.(424-426)Gca>Aca	p.A142T	OR13A1_ENST00000536058.1_Missense_Mutation_p.A142T|OR13A1_ENST00000374401.2_Missense_Mutation_p.A142T	NM_001004297.2	NP_001004297.2	Q8NGR1	O13A1_HUMAN	olfactory receptor, family 13, subfamily A, member 1	142						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|skin(2)|urinary_tract(1)	19						CAGATGGCTGCGTACCGGTCA	0.627																																						ENST00000553795.1																			0				endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|skin(2)|urinary_tract(1)	19						c.(424-426)Gca>Aca		olfactory receptor, family 13, subfamily A, member 1							33	27	29					10																	45799447		2202	4300	6502	SO:0001583	missense	79290				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr10:45799447C>T	AB065728	CCDS31188.1	10q11.21	2012-10-03			ENSG00000256574	ENSG00000256574		"GPCR / Class A : Olfactory receptors"	14772	protein-coding gene	gene with protein product							Standard	NM_001004297		Approved		uc001jcc.1	Q8NGR1	OTTHUMG00000018080	ENST00000553795.1:c.424G>A	10.37:g.45799447C>T	ENSP00000451950:p.Ala142Thr					OR13A1_ENST00000536058.1_Missense_Mutation_p.A142T|OR13A1_ENST00000374401.2_Missense_Mutation_p.A142T	p.A142T	NM_001004297.2	NP_001004297.2	Q8NGR1	O13A1_HUMAN			4	732	-			142					Q2M3M4|Q5VV57|Q6IFH5|Q6ZMN6	Missense_Mutation	SNP	ENST00000553795.1	37	c.424G>A	CCDS31188.1	.	.	.	.	.	.	.	.	.	.	c	12.89	2.072443	0.36566	.	.	ENSG00000256574	ENST00000553795;ENST00000536058;ENST00000374401	T;T;T	0.00402	7.56;7.56;7.56	5.78	2.81	0.32909	GPCR, rhodopsin-like superfamily (1);	0.826175	0.10381	N	0.681565	T	0.00271	0.0008	N	0.20483	0.58	0.09310	N	1	B	0.13594	0.008	B	0.13407	0.009	T	0.42378	-0.9455	10	0.59425	D	0.04	-38.0871	7.2698	0.26250	0.0:0.7029:0.1404:0.1566	.	142	Q8NGR1	O13A1_HUMAN	T	142	ENSP00000451950:A142T;ENSP00000438657:A142T;ENSP00000363522:A142T	ENSP00000311379:A142T	A	-	1	0	OR13A1	45119453	0.011000	0.17503	0.004000	0.12327	0.719000	0.41307	1.012000	0.29924	0.800000	0.34041	-0.143000	0.13931	GCA		0.627	OR13A1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047779.2	NM_001004297		5	9	0	0	0	1	0	5	9					T	45799447	C	T	45799447	3	4	435	1	0	0	0	0	1	0	0	0	10933	768	27	1	566	1	OR13A1	10	45799447	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	1694736	45799447	89735300	4661	25586											
ALOX5	240	broad.mit.edu	37	chr10	45935962	45935962	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttttggccaaaatctgggtgCgttccagtgacttccacgtc	7	13	10	11	2	1	1	0	1	1	0	4	1	3	1	3	2	1	1	3	2	2	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:45935962C>T	ENST00000374391.2	+	8	1119	c.1066C>T	c.(1066-1068)Cgt>Tgt	p.R356C	ALOX5_ENST00000542434.1_Missense_Mutation_p.R356C	NM_000698.3|NM_001256153.1	NP_000689.1|NP_001243082.1	P09917	LOX5_HUMAN	arachidonate 5-lipoxygenase	356	Lipoxygenase. {ECO:0000255|PROSITE- ProRule:PRU00726}.				arachidonic acid metabolic process (GO:0019369)|leukotriene biosynthetic process (GO:0019370)|leukotriene metabolic process (GO:0006691)|leukotriene production involved in inflammatory response (GO:0002540)|lipoxin metabolic process (GO:2001300)|lipoxygenase pathway (GO:0019372)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular space (GO:0005615)|nuclear envelope (GO:0005635)|nuclear envelope lumen (GO:0005641)|nuclear matrix (GO:0016363)|nuclear membrane (GO:0031965)	arachidonate 5-lipoxygenase activity (GO:0004051)|iron ion binding (GO:0005506)			breast(1)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|pancreas(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		Lung SC(717;0.0257)			Aminosalicylic Acid(DB00233)|Balsalazide(DB01014)|Diclofenac(DB00586)|Diethylcarbamazine(DB00711)|Masoprocol(DB00179)|Meclofenamic acid(DB00939)|Mesalazine(DB00244)|Minocycline(DB01017)|Montelukast(DB00471)|Sulfasalazine(DB00795)|Vitamin E(DB00163)|Zileuton(DB00744)	AATCTGGGTGCGTTCCAGTGA	0.522																																						ENST00000374391.2																			0				breast(1)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|pancreas(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						c.(1066-1068)Cgt>Tgt		arachidonate 5-lipoxygenase	Diethylcarbamazine(DB00711)|Hydrocortisone(DB00741)|Leflunomide(DB01097)|Masoprocol(DB00179)|Meclofenamic acid(DB00939)|Minocycline(DB01017)|Montelukast(DB00471)|Quinacrine(DB01103)|Vitamin E(DB00163)|Zileuton(DB00744)						102	86	92					10																	45935962		2203	4300	6503	SO:0001583	missense	240				hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process	cytosol|nuclear envelope lumen|nuclear matrix|nuclear membrane	arachidonate 5-lipoxygenase activity|iron ion binding|lipoxygenase activity|protein binding	g.chr10:45935962C>T	J03571	CCDS7212.1, CCDS58078.1	10q11.2	2008-03-18			ENSG00000012779	ENSG00000012779	1.13.11.34	"Arachidonate lipoxygenases"	435	protein-coding gene	gene with protein product		152390				2565035	Standard	NM_001256153		Approved	5-LOX	uc001jce.4	P09917	OTTHUMG00000018081	ENST00000374391.2:c.1066C>T	10.37:g.45935962C>T	ENSP00000363512:p.Arg356Cys					ALOX5_ENST00000542434.1_Missense_Mutation_p.R356C	p.R356C	NM_000698.3|NM_001256153.1	NP_000689.1|NP_001243082.1	P09917	LOX5_HUMAN			8	1119	+		Lung SC(717;0.0257)	356			Lipoxygenase.		B7ZLS0|E5FPY5|E5FPY7|E5FPY8|Q5JQ14	Missense_Mutation	SNP	ENST00000374391.2	37	c.1066C>T	CCDS7212.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.215825	0.79352	.	.	ENSG00000012779	ENST00000542434;ENST00000374391	D;D	0.90444	-2.67;-2.67	5.96	5.96	0.96718	Lipoxygenase, C-terminal (4);	0.095477	0.64402	D	0.000001	D	0.93298	0.7864	L	0.50993	1.605	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.83275	0.996;0.983;0.996	D	0.92986	0.6410	10	0.62326	D	0.03	-21.3855	12.7994	0.57578	0.1634:0.8366:0.0:0.0	.	356;356;356	B7ZLS0;E5FPY8;P09917	.;.;LOX5_HUMAN	C	356	ENSP00000437634:R356C;ENSP00000363512:R356C	ENSP00000363512:R356C	R	+	1	0	ALOX5	45255968	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.601000	0.61090	2.833000	0.97629	0.650000	0.86243	CGT		0.522	ALOX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047780.1			30	40	0	0	0	1	0	30	40					T	45935962	C	T	45935962	3	4	435	1	0	0	0	0	1	0	0	0	540	768	27	1	1096	1	ALOX5	10	45935962	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	136515	45935962	89598785	4662	25587											
ALOX5	240	broad.mit.edu	37	chr10	45939258	45939258	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	accgcctccgcccagcacgcCgcggtcaacttcggccaggt	6	5	11	19	6	1	0	1	0	0	0	3	0	2	0	6	3	2	1	6	3	1	1	rs149908407		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:45939258C>T	ENST00000374391.2	+	12	1709	c.1656C>T	c.(1654-1656)gcC>gcT	p.A552A	RP11-67C2.2_ENST00000435635.1_RNA|ALOX5_ENST00000542434.1_Silent_p.A552A	NM_000698.3|NM_001256153.1	NP_000689.1|NP_001243082.1	P09917	LOX5_HUMAN	arachidonate 5-lipoxygenase	552	Lipoxygenase. {ECO:0000255|PROSITE- ProRule:PRU00726}.				arachidonic acid metabolic process (GO:0019369)|leukotriene biosynthetic process (GO:0019370)|leukotriene metabolic process (GO:0006691)|leukotriene production involved in inflammatory response (GO:0002540)|lipoxin metabolic process (GO:2001300)|lipoxygenase pathway (GO:0019372)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular space (GO:0005615)|nuclear envelope (GO:0005635)|nuclear envelope lumen (GO:0005641)|nuclear matrix (GO:0016363)|nuclear membrane (GO:0031965)	arachidonate 5-lipoxygenase activity (GO:0004051)|iron ion binding (GO:0005506)			breast(1)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|pancreas(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		Lung SC(717;0.0257)			Aminosalicylic Acid(DB00233)|Balsalazide(DB01014)|Diclofenac(DB00586)|Diethylcarbamazine(DB00711)|Masoprocol(DB00179)|Meclofenamic acid(DB00939)|Mesalazine(DB00244)|Minocycline(DB01017)|Montelukast(DB00471)|Sulfasalazine(DB00795)|Vitamin E(DB00163)|Zileuton(DB00744)	CCCAGCACGCCGCGGTCAACT	0.697																																						ENST00000374391.2																			0				breast(1)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|pancreas(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						c.(1654-1656)gcC>gcT		arachidonate 5-lipoxygenase	Diethylcarbamazine(DB00711)|Hydrocortisone(DB00741)|Leflunomide(DB01097)|Masoprocol(DB00179)|Meclofenamic acid(DB00939)|Minocycline(DB01017)|Montelukast(DB00471)|Quinacrine(DB01103)|Vitamin E(DB00163)|Zileuton(DB00744)	C		1,4401		0,1,2200	29	28	28		1656	-10.5	0.1	10	dbSNP_134	28	0,8600		0,0,4300	no	coding-synonymous	ALOX5	NM_000698.2		0,1,6500	TT,TC,CC		0.0,0.0227,0.0077		552/675	45939258	1,13001	2201	4300	6501	SO:0001819	synonymous_variant	240				hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process	cytosol|nuclear envelope lumen|nuclear matrix|nuclear membrane	arachidonate 5-lipoxygenase activity|iron ion binding|lipoxygenase activity|protein binding	g.chr10:45939258C>T	J03571	CCDS7212.1, CCDS58078.1	10q11.2	2008-03-18			ENSG00000012779	ENSG00000012779	1.13.11.34	"Arachidonate lipoxygenases"	435	protein-coding gene	gene with protein product		152390				2565035	Standard	NM_001256153		Approved	5-LOX	uc001jce.4	P09917	OTTHUMG00000018081	ENST00000374391.2:c.1656C>T	10.37:g.45939258C>T						ALOX5_ENST00000542434.1_Silent_p.A552A	p.A552A	NM_000698.3|NM_001256153.1	NP_000689.1|NP_001243082.1	P09917	LOX5_HUMAN			12	1709	+		Lung SC(717;0.0257)	552			Lipoxygenase.		B7ZLS0|E5FPY5|E5FPY7|E5FPY8|Q5JQ14	Silent	SNP	ENST00000374391.2	37	c.1656C>T	CCDS7212.1																																																																																				0.697	ALOX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047780.1			3	7	0	0	0	1	0	3	7					T	45939258	C	T	45939258	2	4	435	1	0	0	0	0	0	0	0	1	540	639	23	2		2	ALOX5	10	45939258	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	3296	45939258	89595489	4663	25588											
FAM21C	253725	broad.mit.edu	37	chr10	46233431	46233431	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gagtttgcttccatatttagCgtgtatatgatgaagaagtg	11	15	11	4	1	0	3	0	2	0	1	1	4	1	3	1	0	2	3	1	0	6	7			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:46233431C>T	ENST00000336378.4	+	4	410	c.292C>T	c.(292-294)Cgt>Tgt	p.R98C	FAM21C_ENST00000537517.1_Splice_Site_p.R98C|FAM21C_ENST00000374362.2_Splice_Site_p.R98C|FAM21C_ENST00000359860.4_Splice_Site_p.R42C|FAM21C_ENST00000540872.1_Splice_Site_p.R98C	NM_015262.2	NP_056077.2	Q9Y4E1	FA21C_HUMAN	family with sequence similarity 21, member C	98					retrograde transport, endosome to Golgi (GO:0042147)	early endosome (GO:0005769)|endosome (GO:0005768)|plasma membrane (GO:0005886)|WASH complex (GO:0071203)				central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	28						CCATATTTAGCGTGTATATGA	0.378																																						ENST00000336378.4																			0				central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	28						c.e4-1		family with sequence similarity 21, member C							13	13	13					10																	46233431		1761	4009	5770	SO:0001630	splice_region_variant	253725							g.chr10:46233431C>T		CCDS44374.1, CCDS44374.2, CCDS53528.1, CCDS53529.1	10q11.22	2014-05-09			ENSG00000172661	ENSG00000172661			23414	protein-coding gene	gene with protein product		613631				20498093	Standard	NM_015262		Approved	Em:AC012044.3, KIAA0592	uc001jcu.3	Q9Y4E1	OTTHUMG00000018089	ENST00000336378.4:c.292-1C>T	10.37:g.46233431C>T						FAM21C_ENST00000540872.1_Splice_Site_p.R98_splice|FAM21C_ENST00000359860.4_Splice_Site_p.R42_splice|FAM21C_ENST00000374362.2_Splice_Site_p.R98_splice|FAM21C_ENST00000537517.1_Splice_Site_p.R98_splice	p.R98_splice	NM_015262.2	NP_056077.2	A8K5W5	A8K5W5_HUMAN			4	410	+			98					B4DZQ6|B9EK53|F5H0J6|F5H871|Q5SQU4|Q5SQU5|Q7L521|Q9UG79	Splice_Site	SNP	ENST00000336378.4	37	c.291_splice		.	.	.	.	.	.	.	.	.	.	C	14.97	2.694672	0.48202	.	.	ENSG00000172661	ENST00000336378;ENST00000540872;ENST00000537517;ENST00000374362;ENST00000399588;ENST00000359860;ENST00000420848;ENST00000436993	.	.	.	3.9	3.9	0.45041	.	0.000000	0.85682	D	0.000000	T	0.77968	0.4210	M	0.85710	2.77	0.58432	D	0.999999	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.997;1.0;1.0;0.999	T	0.79732	-0.1680	8	.	.	.	-9.1461	8.7976	0.34890	0.2249:0.7751:0.0:0.0	.	98;98;98;43	F5H871;Q9Y4E1-4;Q9Y4E1;Q9Y4E1-3	.;.;FA21C_HUMAN;.	C	98;98;98;98;98;42;43;10	.	.	R	+	1	0	FAM21C	45553437	1.000000	0.71417	0.997000	0.53966	0.528000	0.34623	2.551000	0.45820	2.012000	0.59069	0.500000	0.49745	CGT		0.378	FAM21C-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding			Missense_Mutation	21	33	0	0	0	1	0	21	33					T	46233431	C	T	46233431	5	4	435	1	0	0	0	0	0	0	1	0	5542	782	27	1	306	1	FAM21C	10	46233431	Splice_Site	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	294173	46233431	89301316	4664	25589											
SYT15	83849	broad.mit.edu	37	chr10	46967493	46967493	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tggtcttggattggaggaagCgccgctcatcgggcagcagg	7	8	17	9	3	2	0	1	0	1	0	3	3	2	3	1	6	2	3	1	6	1	2	rs201664076		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:46967493C>T	ENST00000374321.4	-	4	650	c.584G>A	c.(583-585)cGc>cAc	p.R195H	SYT15_ENST00000374323.4_Missense_Mutation_p.R248H|SYT15_ENST00000503753.1_Missense_Mutation_p.R195H|SYT15_ENST00000374325.3_Missense_Mutation_p.R195H|RP11-38L15.3_ENST00000506914.1_RNA	NM_031912.4	NP_114118.2	Q9BQS2	SYT15_HUMAN	synaptotagmin XV	195	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				cervix(1)|endometrium(5)|kidney(2)|lung(5)	13						TTGGAGGAAGCGCCGCTCATC	0.612													C|||	1	0.000199681	0	0	5008	,	,		37472	0.001		0	False		,,,				2504	0				Ovarian(57;1152 1428 19651 37745)	ENST00000374323.3																			0				cervix(1)|endometrium(5)|kidney(2)|lung(5)	13						c.(742-744)cGc>cAc		synaptotagmin XV		C	HIS/ARG,HIS/ARG	0,4192		0,0,2096	87	100	96		584,584	3.1	1	10		96	2,8458		0,2,4228	no	missense,missense	SYT15	NM_031912.4,NM_181519.2	29,29	0,2,6324	TT,TC,CC		0.0236,0.0,0.0158	probably-damaging,probably-damaging	195/422,195/391	46967493	2,12650	2096	4230	6326	SO:0001583	missense	83849					integral to membrane|plasma membrane		g.chr10:46967493C>T	AJ303363	CCDS73103.1, CCDS73104.1	10q11.1	2013-01-21			ENSG00000204176	ENSG00000204176		"Synaptotagmins"	17167	protein-coding gene	gene with protein product		608081				11543631	Standard	NM_031912		Approved	CHR10SYT	uc001jea.3	Q9BQS2	OTTHUMG00000018103	ENST00000374321.4:c.584G>A	10.37:g.46967493C>T	ENSP00000363441:p.Arg195His					SYT15_ENST00000374321.4_Missense_Mutation_p.R195H|SYT15_ENST00000374325.3_Missense_Mutation_p.R195H|SYT15_ENST00000503753.1_Missense_Mutation_p.R195H	p.R248H			Q9BQS2	SYT15_HUMAN			3	1330	-			195			C2 1.		A5D6W8|Q5VY53|Q5VY55|Q7Z439|Q7Z440	Missense_Mutation	SNP	ENST00000374321.4	37	c.743G>A	CCDS44376.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	.	16.10	3.026123	0.54683	0.0	2.36E-4	ENSG00000204176	ENST00000416127;ENST00000374325;ENST00000503753;ENST00000374330;ENST00000374323;ENST00000374321;ENST00000512997	T;T;T;T;T	0.69175	-0.38;-0.38;-0.38;-0.38;-0.38	4.92	3.07	0.35406	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.172136	0.51477	D	0.000081	T	0.60573	0.2279	L	0.58510	1.815	0.39969	D	0.974762	P;P	0.39157	0.662;0.598	B;B	0.39590	0.271;0.304	T	0.57963	-0.7720	9	.	.	.	.	9.8358	0.40968	0.0:0.8484:0.0:0.1516	.	195;195	Q9BQS2;Q9BQS2-2	SYT15_HUMAN;.	H	195;195;195;34;248;195;79	ENSP00000363445:R195H;ENSP00000427607:R195H;ENSP00000363443:R248H;ENSP00000363441:R195H;ENSP00000424803:R79H	.	R	-	2	0	SYT15	46387499	0.344000	0.24827	0.999000	0.59377	0.998000	0.95712	0.763000	0.26517	0.600000	0.29862	0.655000	0.94253	CGC		0.612	SYT15-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367008.1	NM_031912		13	91	0	0	0	1	0	13	91					T	46967493	C	T	46967493	3	4	435	1	0	0	0	0	1	0	0	0	15468	768	27	1	755	1	SYT15	10	46967493	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	734062	46967493	88567254	4665	25590											
SYT15	83849	broad.mit.edu	37	chr10	46969394	46969394	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccacagacagcagcttgcccCgatcaacagcagcagcagca	13	3	9	16	1	1	1	1	0	0	1	1	2	1	1	3	0	8	6	3	0	1	1	rs529094262	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:46969394C>T	ENST00000374321.4	-	2	133	c.67G>A	c.(67-69)Ggg>Agg	p.G23R	SYT15_ENST00000374323.4_Intron|SYT15_ENST00000503753.1_Missense_Mutation_p.G23R|SYT15_ENST00000374325.3_Missense_Mutation_p.G23R|RP11-38L15.3_ENST00000506914.1_RNA	NM_031912.4	NP_114118.2	Q9BQS2	SYT15_HUMAN	synaptotagmin XV	23						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				cervix(1)|endometrium(5)|kidney(2)|lung(5)	13						CAGCTTGCCCCGATCAACAGC	0.637													C|||	3	0.000599042	0	0	5008	,	,		36510	0		0	False		,,,				2504	0.0031				Ovarian(57;1152 1428 19651 37745)	ENST00000374325.3																			0				cervix(1)|endometrium(5)|kidney(2)|lung(5)	13						c.(67-69)Ggg>Agg		synaptotagmin XV							27	35	33					10																	46969394		2160	4280	6440	SO:0001583	missense	83849					integral to membrane|plasma membrane		g.chr10:46969394C>T	AJ303363	CCDS73103.1, CCDS73104.1	10q11.1	2013-01-21			ENSG00000204176	ENSG00000204176		"Synaptotagmins"	17167	protein-coding gene	gene with protein product		608081				11543631	Standard	NM_031912		Approved	CHR10SYT	uc001jea.3	Q9BQS2	OTTHUMG00000018103	ENST00000374321.4:c.67G>A	10.37:g.46969394C>T	ENSP00000363441:p.Gly23Arg					SYT15_ENST00000374321.4_Missense_Mutation_p.G23R|SYT15_ENST00000503753.1_Missense_Mutation_p.G23R|SYT15_ENST00000374323.3_Intron	p.G23R	NM_181519.2	NP_852660.1	Q9BQS2	SYT15_HUMAN			2	219	-			23					A5D6W8|Q5VY53|Q5VY55|Q7Z439|Q7Z440	Missense_Mutation	SNP	ENST00000374321.4	37	c.67G>A	CCDS44376.1	.	.	.	.	.	.	.	.	.	.	c	12.93	2.085651	0.36758	.	.	ENSG00000204176	ENST00000416127;ENST00000374325;ENST00000503753;ENST00000374321	T;T;T	0.16324	2.35;2.35;2.62	3.75	-0.867	0.10655	.	.	.	.	.	T	0.14614	0.0353	M	0.62723	1.935	0.09310	N	1	B;B	0.18310	0.009;0.027	B;B	0.08055	0.001;0.003	T	0.32771	-0.9894	9	0.25106	T	0.35	.	5.3976	0.16278	0.5274:0.3681:0.0:0.1045	.	23;23	Q9BQS2;Q9BQS2-2	SYT15_HUMAN;.	R	23	ENSP00000363445:G23R;ENSP00000427607:G23R;ENSP00000363441:G23R	ENSP00000363441:G23R	G	-	1	0	SYT15	46389400	0.000000	0.05858	0.000000	0.03702	0.938000	0.57974	0.038000	0.13862	-0.284000	0.09102	0.467000	0.42956	GGG		0.637	SYT15-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367008.1	NM_031912		12	49	0	0	0	1	0	12	49					T	46969394	C	T	46969394	3	4	435	1	0	0	0	0	1	0	0	0	15468	652	23	2	1280	2	SYT15	10	46969394	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	1901	46969394	88565353	4666	25591											
PPYR1	5540	broad.mit.edu	37	chr10	47086845	47086845	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tccacaaggtgaaaacagaaGcaaacccctgggcaccccat	15	4	8	14	0	0	2	0	1	0	1	1	2	1	2	5	2	3	2	5	2	5	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:47086845G>A	ENST00000395716.1	+	2	147	c.62G>A	c.(61-63)aGc>aAc	p.S21N	NPY4R_ENST00000374312.1_Missense_Mutation_p.S21N			P50391	NPY4R_HUMAN	neuropeptide Y receptor Y4	21					blood circulation (GO:0008015)|digestion (GO:0007586)|feeding behavior (GO:0007631)|G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|pancreatic polypeptide receptor activity (GO:0001602)|peptide binding (GO:0042277)|peptide YY receptor activity (GO:0001601)										GAAAACAGAAGCAAACCCCTG	0.493																																						ENST00000374312.1																			0											c.(61-63)aGc>aAc		neuropeptide Y receptor Y4							129	122	125					10																	47086845		2203	4300	6503	SO:0001583	missense	0							g.chr10:47086845G>A		CCDS73100.1	10q11.2	2013-03-26	2013-03-26	2013-03-26	ENSG00000204174	ENSG00000204174		"GPCR / Class A : Neuropeptide receptors : Y"	9329	protein-coding gene	gene with protein product		601790	"pancreatic polypeptide receptor 1"	PPYR1		9417917	Standard	NM_005972		Approved	Y4, PP1	uc001jee.3	P50391	OTTHUMG00000018108	ENST00000395716.1:c.62G>A	10.37:g.47086845G>A	ENSP00000379066:p.Ser21Asn					NPY4R_ENST00000395716.1_Missense_Mutation_p.S21N	p.S21N	NM_005972.4	NP_005963.3					3	481	+								Q13456|Q5ISU3|Q5T2X9|Q6FH06	Missense_Mutation	SNP	ENST00000395716.1	37	c.62G>A	CCDS31193.1	.	.	.	.	.	.	.	.	.	.	G	7.412	0.634944	0.14322	.	.	ENSG00000204174	ENST00000374312;ENST00000395716	T;T	0.54071	0.59;0.59	4.78	3.85	0.44370	.	1.156950	0.06063	N	0.658762	T	0.53318	0.1789	M	0.61703	1.905	0.29414	N	0.861019	B	0.22276	0.067	B	0.17979	0.02	T	0.48387	-0.9040	10	0.44086	T	0.13	.	11.2861	0.49222	0.0:0.1942:0.8058:0.0	.	21	P50391	NPY4R_HUMAN	N	21	ENSP00000363431:S21N;ENSP00000379066:S21N	ENSP00000363431:S21N	S	+	2	0	PPYR1	46506851	1.000000	0.71417	0.664000	0.29753	0.078000	0.17371	1.398000	0.34554	1.296000	0.44742	0.655000	0.94253	AGC		0.493	NPY4R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047837.1			20	63	0	0	0	1	0	20	63					A	47086845	G	A	47086845	3	1	435	1	0	0	0	0	1	0	0	0	12416	971	34	3	64	3	PPYR1	10	47086845	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	117451	47086845	88447902	4667	25592											
PPYR1	5540	broad.mit.edu	37	chr10	47087266	47087266	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caggcctacctggggattgtGctcatctgggtcattgcctg	5	12	13	11	0	3	0	2	0	1	0	3	1	3	1	3	4	3	1	3	4	1	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:47087266G>A	ENST00000395716.1	+	2	568	c.483G>A	c.(481-483)gtG>gtA	p.V161V	NPY4R_ENST00000374312.1_Silent_p.V161V			P50391	NPY4R_HUMAN	neuropeptide Y receptor Y4	161					blood circulation (GO:0008015)|digestion (GO:0007586)|feeding behavior (GO:0007631)|G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|pancreatic polypeptide receptor activity (GO:0001602)|peptide binding (GO:0042277)|peptide YY receptor activity (GO:0001601)										TGGGGATTGTGCTCATCTGGG	0.582																																						ENST00000374312.1																			0											c.(481-483)gtG>gtA		neuropeptide Y receptor Y4							231	186	201					10																	47087266		2203	4300	6503	SO:0001819	synonymous_variant	0							g.chr10:47087266G>A		CCDS73100.1	10q11.2	2013-03-26	2013-03-26	2013-03-26	ENSG00000204174	ENSG00000204174		"GPCR / Class A : Neuropeptide receptors : Y"	9329	protein-coding gene	gene with protein product		601790	"pancreatic polypeptide receptor 1"	PPYR1		9417917	Standard	NM_005972		Approved	Y4, PP1	uc001jee.3	P50391	OTTHUMG00000018108	ENST00000395716.1:c.483G>A	10.37:g.47087266G>A						NPY4R_ENST00000395716.1_Silent_p.V161V	p.V161V	NM_005972.4	NP_005963.3					3	902	+								Q13456|Q5ISU3|Q5T2X9|Q6FH06	Silent	SNP	ENST00000395716.1	37	c.483G>A	CCDS31193.1																																																																																				0.582	NPY4R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047837.1			21	101	0	0	0	1	0	21	101					A	47087266	G	A	47087266	2	1	435	1	0	0	0	0	0	0	0	1	12416	1306	46	3		3	PPYR1	10	47087266	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	421	47087266	88447481	4668	25593											
C10orf71	118461	broad.mit.edu	37	chr10	50530613	50530613	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gatgcaaggaaataagaagtGcacagacgcgttcagcgact	15	6	12	8	3	1	2	1	0	0	2	1	5	1	3	0	1	3	3	0	1	4	2	rs376665109		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:50530613G>A	ENST00000374144.3	+	3	311	c.23G>A	c.(22-24)tGc>tAc	p.C8Y	C10orf71_ENST00000323868.4_Missense_Mutation_p.C8Y			Q711Q0	CJ071_HUMAN	chromosome 10 open reading frame 71	8										endometrium(1)	1						AATAAGAAGTGCACAGACGCG	0.542																																						ENST00000374144.3																			0				endometrium(1)	1						c.(22-24)tGc>tAc		chromosome 10 open reading frame 71							36	38	37					10																	50530613		2142	4247	6389	SO:0001583	missense	118461							g.chr10:50530613G>A	AL833265	CCDS44387.1	10q11.23	2012-05-31			ENSG00000177354	ENSG00000177354			26973	protein-coding gene	gene with protein product							Standard	NM_001135196		Approved	FLJ45913	uc021pqa.2	Q711Q0	OTTHUMG00000018190	ENST00000374144.3:c.23G>A	10.37:g.50530613G>A	ENSP00000363259:p.Cys8Tyr					C10orf71_ENST00000323868.4_Missense_Mutation_p.C8Y	p.C8Y			Q711Q0	CJ071_HUMAN			3	311	+			8					A0AVL8	Missense_Mutation	SNP	ENST00000374144.3	37	c.23G>A	CCDS44387.1	.	.	.	.	.	.	.	.	.	.	G	7.019	0.558412	0.13436	.	.	ENSG00000177354	ENST00000323868;ENST00000374144	T;T	0.13420	2.59;3.72	5.13	4.01	0.46588	.	0.382359	0.22366	N	0.061001	T	0.08626	0.0214	L	0.39633	1.23	0.27641	N	0.947708	B	0.13594	0.008	B	0.12156	0.007	T	0.40421	-0.9564	10	0.02654	T	1	.	6.853	0.24024	0.2015:0.0:0.7985:0.0	.	8	Q711Q0-3	.	Y	8	ENSP00000318713:C8Y;ENSP00000363259:C8Y	ENSP00000318713:C8Y	C	+	2	0	C10orf71	50200619	0.994000	0.37717	0.960000	0.40013	0.882000	0.50991	2.814000	0.48010	2.396000	0.81511	0.557000	0.71058	TGC		0.542	C10orf71-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047984.2	NM_199459		5	2	0	0	0	1	0	5	2					A	50530613	G	A	50530613	3	1	435	1	0	0	0	0	1	0	0	0	1614	1319	46	3	25	3	C10orf71	10	50530613	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	3443347	50530613	85004134	4669	25594											
C10orf71	118461	broad.mit.edu	37	chr10	50532618	50532618	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatgggctctccagatctgtGtcccaagagacagaacctga	12	8	10	11	0	2	4	0	1	2	3	4	5	3	4	3	1	1	1	3	1	3	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:50532618G>A	ENST00000374144.3	+	3	2316	c.2028G>A	c.(2026-2028)gtG>gtA	p.V676V	C10orf71_ENST00000323868.4_Silent_p.V676V			Q711Q0	CJ071_HUMAN	chromosome 10 open reading frame 71	676										endometrium(1)	1						CCAGATCTGTGTCCCAAGAGA	0.522																																						ENST00000374144.3																			0				endometrium(1)	1						c.(2026-2028)gtG>gtA		chromosome 10 open reading frame 71							41	44	43					10																	50532618		1877	4103	5980	SO:0001819	synonymous_variant	118461							g.chr10:50532618G>A	AL833265	CCDS44387.1	10q11.23	2012-05-31			ENSG00000177354	ENSG00000177354			26973	protein-coding gene	gene with protein product							Standard	NM_001135196		Approved	FLJ45913	uc021pqa.2	Q711Q0	OTTHUMG00000018190	ENST00000374144.3:c.2028G>A	10.37:g.50532618G>A						C10orf71_ENST00000323868.4_Silent_p.V676V	p.V676V			Q711Q0	CJ071_HUMAN			3	2316	+			676					A0AVL8	Silent	SNP	ENST00000374144.3	37	c.2028G>A	CCDS44387.1																																																																																				0.522	C10orf71-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047984.2	NM_199459		16	24	0	0	0	1	0	16	24					A	50532618	G	A	50532618	2	1	435	1	0	0	0	0	0	0	0	1	1614	1364	48	3		3	C10orf71	10	50532618	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	2005	50532618	85002129	4670	25595											
ERCC6	2074	broad.mit.edu	37	chr10	50669577	50669577	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctccatccatgatggcatcGtgcttcatgacactgtgcac	8	11	9	13	1	1	2	1	2	0	0	4	2	3	2	2	1	2	4	2	1	0	1	rs116032070	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:50669577G>A	ENST00000355832.5	-	19	3882	c.3804C>T	c.(3802-3804)caC>caT	p.H1268H	ERCC6_ENST00000542458.1_Silent_p.H638H|RP11-123B3.2_ENST00000423283.1_RNA|ERCC6_ENST00000465653.1_5'UTR	NM_000124.2	NP_000115.1	Q03468	ERCC6_HUMAN	excision repair cross-complementation group 6	1268					activation of JNKK activity (GO:0007256)|activation of JUN kinase activity (GO:0007257)|ATP catabolic process (GO:0006200)|base-excision repair (GO:0006284)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|multicellular organism growth (GO:0035264)|nucleotide-excision repair (GO:0006289)|photoreceptor cell maintenance (GO:0045494)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|positive regulation of protein tyrosine kinase activity (GO:0061098)|pyrimidine dimer repair (GO:0006290)|regulation of DNA-templated transcription, elongation (GO:0032784)|response to gamma radiation (GO:0010332)|response to oxidative stress (GO:0006979)|response to superoxide (GO:0000303)|response to toxic substance (GO:0009636)|response to UV (GO:0009411)|response to UV-B (GO:0010224)|response to X-ray (GO:0010165)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase II promoter (GO:0006366)|transcription-coupled nucleotide-excision repair (GO:0006283)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|protein N-terminus binding (GO:0047485)|protein tyrosine kinase activator activity (GO:0030296)			breast(5)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						TGATGGCATCGTGCTTCATGA	0.483								Direct reversal of damage;Nucleotide excision repair (NER)					G|||	2	0.000399361	0	0	5008	,	,		19754	0		0.001	False		,,,				2504	0.001					ENST00000355832.5																			0				breast(5)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						c.(3802-3804)caC>caT	Direct reversal of damage;Nucleotide excision repair (NER)	excision repair cross-complementing rodent repair deficiency, complementation group 6		G		0,4406		0,0,2203	72	54	60		3804	-5.3	0.6	10	dbSNP_132	60	9,8591	7.1+/-27.0	0,9,4291	no	coding-synonymous	ERCC6	NM_000124.2		0,9,6494	AA,AG,GG		0.1047,0.0,0.0692		1268/1494	50669577	9,12997	2203	4300	6503	SO:0001819	synonymous_variant	2074				base-excision repair|positive regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair	nucleolus|soluble fraction|transcription elongation factor complex	ATP binding|chromatin binding|DNA binding|DNA-dependent ATPase activity|helicase activity|protein C-terminus binding|protein complex binding|protein N-terminus binding	g.chr10:50669577G>A	L04791	CCDS7229.1	10q11	2014-09-17	2014-03-07		ENSG00000225830	ENSG00000225830			3438	protein-coding gene	gene with protein product	"Cockayne syndrome B protein"	609413	"excision repair cross-complementing rodent repair deficiency, complementation group 6"	CKN2		1339317, 19179336	Standard	NM_000124		Approved	CSB, RAD26, ARMD5	uc001jhs.5	Q03468	OTTHUMG00000018195	ENST00000355832.5:c.3804C>T	10.37:g.50669577G>A						ERCC6_ENST00000542458.1_Silent_p.H638H|ERCC6_ENST00000465653.1_5'UTR|RP11-123B3.2_ENST00000423283.1_RNA	p.H1268H	NM_000124.2	NP_000115.1	Q03468	ERCC6_HUMAN			19	3882	-			1268					D3DX94|Q5W0L9	Silent	SNP	ENST00000355832.5	37	c.3804C>T	CCDS7229.1																																																																																				0.483	ERCC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047990.1	NM_000124		11	9	0	0	0	1	0	11	9					A	50669577	G	A	50669577	2	1	435	1	0	0	0	0	0	0	0	1	5217	1136	40	1		1	ERCC6	10	50669577	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	136959	50669577	84865170	4671	25596											
ERCC6	2074	broad.mit.edu	37	chr10	50740993	50740993	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tgagtttgacttgagtggggGattccctcatttggcattct	6	16	12	7	0	2	3	1	3	1	0	3	4	3	4	1	3	0	2	1	3	0	5	rs577145652		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:50740993G>A	ENST00000355832.5	-	2	96	c.18C>T	c.(16-18)atC>atT	p.I6I	ERCC6-PGBD3_ENST00000447839.2_Silent_p.I6I|PGBD3_ENST00000603152.1_Silent_p.I6I|ERCC6-PGBD3_ENST00000515869.1_Silent_p.I6I	NM_000124.2	NP_000115.1	Q03468	ERCC6_HUMAN	excision repair cross-complementation group 6	6					activation of JNKK activity (GO:0007256)|activation of JUN kinase activity (GO:0007257)|ATP catabolic process (GO:0006200)|base-excision repair (GO:0006284)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|multicellular organism growth (GO:0035264)|nucleotide-excision repair (GO:0006289)|photoreceptor cell maintenance (GO:0045494)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|positive regulation of protein tyrosine kinase activity (GO:0061098)|pyrimidine dimer repair (GO:0006290)|regulation of DNA-templated transcription, elongation (GO:0032784)|response to gamma radiation (GO:0010332)|response to oxidative stress (GO:0006979)|response to superoxide (GO:0000303)|response to toxic substance (GO:0009636)|response to UV (GO:0009411)|response to UV-B (GO:0010224)|response to X-ray (GO:0010165)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase II promoter (GO:0006366)|transcription-coupled nucleotide-excision repair (GO:0006283)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|protein N-terminus binding (GO:0047485)|protein tyrosine kinase activator activity (GO:0030296)			breast(5)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						TTGAGTGGGGGATTCCCTCAT	0.363								Direct reversal of damage;Nucleotide excision repair (NER)																														ENST00000355832.5																			0				breast(5)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						c.(16-18)atC>atT	Direct reversal of damage;Nucleotide excision repair (NER)	excision repair cross-complementing rodent repair deficiency, complementation group 6							118	106	110					10																	50740993		2203	4300	6503	SO:0001819	synonymous_variant	2074				base-excision repair|positive regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair	nucleolus|soluble fraction|transcription elongation factor complex	ATP binding|chromatin binding|DNA binding|DNA-dependent ATPase activity|helicase activity|protein C-terminus binding|protein complex binding|protein N-terminus binding	g.chr10:50740993G>A	L04791	CCDS7229.1	10q11	2014-09-17	2014-03-07		ENSG00000225830	ENSG00000225830			3438	protein-coding gene	gene with protein product	"Cockayne syndrome B protein"	609413	"excision repair cross-complementing rodent repair deficiency, complementation group 6"	CKN2		1339317, 19179336	Standard	NM_000124		Approved	CSB, RAD26, ARMD5	uc001jhs.5	Q03468	OTTHUMG00000018195	ENST00000355832.5:c.18C>T	10.37:g.50740993G>A						ERCC6-PGBD3_ENST00000515869.1_Silent_p.I6I|PGBD3_ENST00000603152.1_Silent_p.I6I|ERCC6-PGBD3_ENST00000447839.2_Silent_p.I6I	p.I6I	NM_000124.2	NP_000115.1	Q03468	ERCC6_HUMAN			2	96	-			6					D3DX94|Q5W0L9	Silent	SNP	ENST00000355832.5	37	c.18C>T	CCDS7229.1																																																																																				0.363	ERCC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047990.1	NM_000124		20	36	0	0	0	1	0	20	36					A	50740993	G	A	50740993	2	1	435	1	0	0	0	0	0	0	0	1	5217	1164	41	3		3	ERCC6	10	50740993	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	71416	50740993	84793754	4672	25597											
SLC18A3	6572	broad.mit.edu	37	chr10	50820020	50820020	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcgccttcctggtggacgtgCgccatgtctcagtctatggc	4	12	12	13	3	2	0	1	0	2	0	5	1	3	1	3	3	1	0	3	3	1	2	rs555224844		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:50820020C>T	ENST00000374115.3	+	1	1674	c.1234C>T	c.(1234-1236)Cgc>Tgc	p.R412C	CHAT_ENST00000395562.2_5'Flank|CHAT_ENST00000455728.2_5'Flank|CHAT_ENST00000337653.2_5'Flank|CHAT_ENST00000339797.1_Intron|CHAT_ENST00000351556.3_5'Flank|CHAT_ENST00000395559.2_5'Flank	NM_003055.2	NP_003046.2	Q16572	VACHT_HUMAN	solute carrier family 18 (vesicular acetylcholine transporter), member 3	412					acetylcholine transport (GO:0015870)|cation transmembrane transport (GO:0098655)|neurotransmitter secretion (GO:0007269)|synaptic transmission (GO:0007268)	clathrin-sculpted acetylcholine transport vesicle membrane (GO:0060201)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	acetylcholine transmembrane transporter activity (GO:0005277)			endometrium(6)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	43						GGTGGACGTGCGCCATGTCTC	0.617																																						ENST00000374115.3																			0				endometrium(6)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	43						c.(1234-1236)Cgc>Tgc		solute carrier family 18 (vesicular acetylcholine transporter), member 3							47	41	43					10																	50820020		2203	4300	6503	SO:0001583	missense	6572				neurotransmitter secretion	clathrin sculpted acetylcholine transport vesicle membrane|integral to plasma membrane|membrane fraction	acetylcholine transmembrane transporter activity	g.chr10:50820020C>T	BC007765	CCDS7231.1	10q11.2	2013-07-18	2013-07-18		ENSG00000187714	ENSG00000187714		"Solute carriers"	10936	protein-coding gene	gene with protein product		600336				8071310	Standard	NM_003055		Approved	VACHT	uc001jhw.3	Q16572	OTTHUMG00000018196	ENST00000374115.3:c.1234C>T	10.37:g.50820020C>T	ENSP00000363229:p.Arg412Cys					CHAT_ENST00000339797.1_Intron	p.R412C	NM_003055.2	NP_003046.2	Q16572	VACHT_HUMAN			1	1674	+			412					B2R7S1	Missense_Mutation	SNP	ENST00000374115.3	37	c.1234C>T	CCDS7231.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.327381	0.81690	.	.	ENSG00000187714	ENST00000374115	T	0.06449	3.3	5.11	5.11	0.69529	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	U	0.000000	T	0.35941	0.0949	M	0.92604	3.325	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.50101	-0.8867	10	0.87932	D	0	-12.2065	18.5339	0.91002	0.0:1.0:0.0:0.0	.	412	Q16572	VACHT_HUMAN	C	412	ENSP00000363229:R412C	ENSP00000363229:R412C	R	+	1	0	SLC18A3	50490026	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	4.809000	0.62591	2.380000	0.81148	0.561000	0.74099	CGC		0.617	SLC18A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047995.1	NM_003055		10	17	0	0	0	1	0	10	17					T	50820020	C	T	50820020	3	4	435	1	0	0	0	0	1	0	0	0	14427	768	27	1	1236	1	SLC18A3	10	50820020	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	79027	50820020	84714727	4673	25598											
CHAT	1103	broad.mit.edu	37	chr10	50857557	50857557	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgcctctgtgcccgcaggacGcagagcagcaggaagctgat	9	6	14	12	2	1	2	0	1	1	1	1	4	1	4	2	2	5	5	2	2	1	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:50857557G>A	ENST00000337653.2	+	10	1539	c.1386G>A	c.(1384-1386)acG>acA	p.T462T	CHAT_ENST00000395562.2_Silent_p.T380T|CHAT_ENST00000455728.2_Silent_p.T344T|CHAT_ENST00000339797.1_Silent_p.T344T|CHAT_ENST00000351556.3_Silent_p.T344T|CHAT_ENST00000395559.2_Silent_p.T344T	NM_001142929.1|NM_020549.4	NP_001136401.1|NP_065574	P28329	CLAT_HUMAN	choline O-acetyltransferase	462					adult walking behavior (GO:0007628)|dendrite development (GO:0016358)|establishment of synaptic specificity at neuromuscular junction (GO:0007529)|glycerophospholipid biosynthetic process (GO:0046474)|muscle organ development (GO:0007517)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter secretion (GO:0007269)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|rhythmic behavior (GO:0007622)|rhythmic excitation (GO:0043179)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	choline O-acetyltransferase activity (GO:0004102)			central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(11)|lung(34)|prostate(3)|urinary_tract(1)	56		all_neural(218;0.107)		GBM - Glioblastoma multiforme(2;0.000585)	Choline(DB00122)|Nicotine(DB00184)	CCCGCAGGACGCAGAGCAGCA	0.607																																						ENST00000395562.2																			0				central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(11)|lung(34)|prostate(3)|urinary_tract(1)	56						c.(1138-1140)acG>acA		choline O-acetyltransferase	Choline(DB00122)						35	42	39					10																	50857557		2203	4300	6503	SO:0001819	synonymous_variant	1103				neurotransmitter biosynthetic process|neurotransmitter secretion	cytosol|nucleus	choline O-acetyltransferase activity	g.chr10:50857557G>A	AF305907	CCDS7232.1, CCDS7233.1, CCDS44389.1	10q11.2	2010-05-11	2010-05-11		ENSG00000070748	ENSG00000070748	2.3.1.6		1912	protein-coding gene	gene with protein product		118490	"choline acetyltransferase"			1840566	Standard	NM_020984		Approved		uc001jhz.2	P28329	OTTHUMG00000018198	ENST00000337653.2:c.1386G>A	10.37:g.50857557G>A						CHAT_ENST00000395559.2_Silent_p.T344T|CHAT_ENST00000337653.2_Silent_p.T462T|CHAT_ENST00000339797.1_Silent_p.T344T|CHAT_ENST00000351556.3_Silent_p.T344T|CHAT_ENST00000455728.2_Silent_p.T344T	p.T380T	NM_001142933.1|NM_001142934.1	NP_001136405.1|NP_001136406.1	P28329	CLAT_HUMAN		GBM - Glioblastoma multiforme(2;0.000585)	11	1609	+		all_neural(218;0.107)	462					A2BDF4|A2BDF5|Q16488|Q9BQ23|Q9BQ35|Q9BQE1	Silent	SNP	ENST00000337653.2	37	c.1140G>A	CCDS7232.1																																																																																				0.607	CHAT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047997.1	NM_020549		12	29	0	0	0	1	0	12	29					A	50857557	G	A	50857557	2	1	435	1	0	0	0	0	0	0	0	1	3313	1074	38	1		1	CHAT	10	50857557	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	37537	50857557	84677190	4674	25599											
CHAT	1103	broad.mit.edu	37	chr10	50872967	50872967	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agacttcttctagcaagtttGcaaaagctgtggaagaaagc	14	10	10	7	0	2	2	0	0	2	2	2	3	2	3	0	1	4	4	0	1	6	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:50872967G>A	ENST00000337653.2	+	15	2275	c.2122G>A	c.(2122-2124)Gca>Aca	p.A708T	CHAT_ENST00000395562.2_Missense_Mutation_p.A626T|CHAT_ENST00000455728.2_Intron|CHAT_ENST00000339797.1_Missense_Mutation_p.A590T|CHAT_ENST00000351556.3_Missense_Mutation_p.A590T|CHAT_ENST00000395559.2_Missense_Mutation_p.A590T	NM_001142929.1|NM_020549.4	NP_001136401.1|NP_065574	P28329	CLAT_HUMAN	choline O-acetyltransferase	708					adult walking behavior (GO:0007628)|dendrite development (GO:0016358)|establishment of synaptic specificity at neuromuscular junction (GO:0007529)|glycerophospholipid biosynthetic process (GO:0046474)|muscle organ development (GO:0007517)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter secretion (GO:0007269)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|rhythmic behavior (GO:0007622)|rhythmic excitation (GO:0043179)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	choline O-acetyltransferase activity (GO:0004102)			central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(11)|lung(34)|prostate(3)|urinary_tract(1)	56		all_neural(218;0.107)		GBM - Glioblastoma multiforme(2;0.000585)	Choline(DB00122)|Nicotine(DB00184)	TAGCAAGTTTGCAAAAGCTGT	0.502																																						ENST00000395562.2																			0				central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(11)|lung(34)|prostate(3)|urinary_tract(1)	56						c.(1876-1878)Gca>Aca		choline O-acetyltransferase	Choline(DB00122)						156	146	149					10																	50872967		2203	4300	6503	SO:0001583	missense	1103				neurotransmitter biosynthetic process|neurotransmitter secretion	cytosol|nucleus	choline O-acetyltransferase activity	g.chr10:50872967G>A	AF305907	CCDS7232.1, CCDS7233.1, CCDS44389.1	10q11.2	2010-05-11	2010-05-11		ENSG00000070748	ENSG00000070748	2.3.1.6		1912	protein-coding gene	gene with protein product		118490	"choline acetyltransferase"			1840566	Standard	NM_020984		Approved		uc001jhz.2	P28329	OTTHUMG00000018198	ENST00000337653.2:c.2122G>A	10.37:g.50872967G>A	ENSP00000337103:p.Ala708Thr					CHAT_ENST00000395559.2_Missense_Mutation_p.A590T|CHAT_ENST00000337653.2_Missense_Mutation_p.A708T|CHAT_ENST00000339797.1_Missense_Mutation_p.A590T|CHAT_ENST00000351556.3_Missense_Mutation_p.A590T|CHAT_ENST00000455728.2_Intron	p.A626T	NM_001142933.1|NM_001142934.1	NP_001136405.1|NP_001136406.1	P28329	CLAT_HUMAN		GBM - Glioblastoma multiforme(2;0.000585)	16	2345	+		all_neural(218;0.107)	708					A2BDF4|A2BDF5|Q16488|Q9BQ23|Q9BQ35|Q9BQE1	Missense_Mutation	SNP	ENST00000337653.2	37	c.1876G>A	CCDS7232.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.156492	0.78114	.	.	ENSG00000070748	ENST00000339797;ENST00000351556;ENST00000395559;ENST00000337653;ENST00000395562	D;D;D;D;D	0.90133	-2.62;-2.62;-2.62;-2.62;-2.62	5.76	5.76	0.90799	.	0.053256	0.85682	D	0.000000	D	0.91270	0.7248	M	0.71920	2.185	0.54753	D	0.999981	P	0.43633	0.813	B	0.41988	0.372	D	0.91198	0.4989	10	0.49607	T	0.09	-22.9966	19.9576	0.97228	0.0:0.0:1.0:0.0	.	708	P28329	CLAT_HUMAN	T	590;590;590;708;626	ENSP00000343486:A590T;ENSP00000345878:A590T;ENSP00000378926:A590T;ENSP00000337103:A708T;ENSP00000378929:A626T	ENSP00000337103:A708T	A	+	1	0	CHAT	50542973	1.000000	0.71417	0.995000	0.50966	0.947000	0.59692	6.547000	0.73892	2.736000	0.93811	0.655000	0.94253	GCA		0.502	CHAT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047997.1	NM_020549		67	79	0	0	0	1	0	67	79					A	50872967	G	A	50872967	3	1	435	1	0	0	0	0	1	0	0	0	3313	1319	46	3	2224	3	CHAT	10	50872967	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	15410	50872967	84661780	4675	25600											
OGDHL	55753	broad.mit.edu	37	chr10	50955174	50955174	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgggaggggttggcaaccagCgacagagtgatgttccggtt	8	9	17	7	2	0	2	0	1	0	1	1	4	1	3	2	5	2	4	2	5	1	3	rs562281972		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:50955174C>T	ENST00000374103.4	-	9	1153	c.1068G>A	c.(1066-1068)tcG>tcA	p.S356S	OGDHL_ENST00000432695.1_Silent_p.S147S|OGDHL_ENST00000419399.1_Silent_p.S299S	NM_018245.2	NP_060715.2	Q9ULD0	OGDHL_HUMAN	oxoglutarate dehydrogenase-like	356					glycolytic process (GO:0006096)|tricarboxylic acid cycle (GO:0006099)	mitochondrion (GO:0005739)	metal ion binding (GO:0046872)|oxoglutarate dehydrogenase (succinyl-transferring) activity (GO:0004591)|thiamine pyrophosphate binding (GO:0030976)			central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	61						TGGCAACCAGCGACAGAGTGA	0.597													C|||	1	0.000199681	8e-04	0	5008	,	,		23408	0		0	False		,,,				2504	0					ENST00000374103.4																			0				central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	61						c.(1066-1068)tcG>tcA		oxoglutarate dehydrogenase-like							245	214	224					10																	50955174		2203	4300	6503	SO:0001819	synonymous_variant	55753				glycolysis	mitochondrial matrix	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding	g.chr10:50955174C>T	AK001713	CCDS7234.1, CCDS44390.1, CCDS44391.1	10q11.23	2013-09-20			ENSG00000197444	ENSG00000197444			25590	protein-coding gene	gene with protein product						10574462	Standard	NM_018245		Approved	FLJ10851	uc001jie.3	Q9ULD0	OTTHUMG00000018200	ENST00000374103.4:c.1068G>A	10.37:g.50955174C>T						OGDHL_ENST00000419399.1_Silent_p.S299S|OGDHL_ENST00000432695.1_Silent_p.S147S	p.S356S	NM_018245.2	NP_060715.2	Q9ULD0	OGDHL_HUMAN			9	1153	-			356					A8K2G1|B4DKG2|B4E193|Q8TAN9|Q9NVA0	Silent	SNP	ENST00000374103.4	37	c.1068G>A	CCDS7234.1																																																																																				0.597	OGDHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048007.1	NM_018245		18	40	0	0	0	1	0	18	40					T	50955174	C	T	50955174	2	4	435	1	0	0	0	0	0	0	0	1	10840	755	27	1		1	OGDHL	10	50955174	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	82207	50955174	84579573	4676	25601											
A1CF	29974	broad.mit.edu	37	chr10	52573657	52573657	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cttggggttttaatgtgacaGgattcattggggtgagctcc	7	14	14	6	0	1	2	1	2	0	0	2	3	2	3	1	5	1	2	1	5	1	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:52573657G>T	ENST00000373993.1	-	8	1351	c.1307C>A	c.(1306-1308)cCt>cAt	p.P436H	A1CF_ENST00000373997.3_Missense_Mutation_p.P428H|ASAH2B_ENST00000483649.1_Intron|A1CF_ENST00000493415.1_5'UTR|A1CF_ENST00000282641.2_Missense_Mutation_p.P436H|A1CF_ENST00000395489.2_Missense_Mutation_p.P429H|A1CF_ENST00000374001.2_Missense_Mutation_p.P428H|A1CF_ENST00000395495.1_Missense_Mutation_p.P381H|A1CF_ENST00000373995.3_Missense_Mutation_p.P436H			Q9NQ94	A1CF_HUMAN	APOBEC1 complementation factor	436					cytidine to uridine editing (GO:0016554)|gene expression (GO:0010467)|mRNA modification (GO:0016556)|mRNA processing (GO:0006397)|protein stabilization (GO:0050821)	apolipoprotein B mRNA editing enzyme complex (GO:0030895)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)|single-stranded RNA binding (GO:0003727)			NS(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(14)|prostate(2)|skin(3)	29						TAATGTGACAGGATTCATTGG	0.433																																						ENST00000395489.2																			0				NS(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(14)|prostate(2)|skin(3)	29						c.(1285-1287)cCt>cAt		APOBEC1 complementation factor							150	153	152					10																	52573657		2203	4300	6503	SO:0001583	missense	29974				cytidine to uridine editing|mRNA modification|mRNA processing|protein stabilization	apolipoprotein B mRNA editing enzyme complex|endoplasmic reticulum|nucleoplasm	nucleotide binding|protein binding|single-stranded RNA binding	g.chr10:52573657G>T	AF271790	CCDS7241.1, CCDS7242.1, CCDS7243.1, CCDS73133.1	10q21.1	2013-02-12			ENSG00000148584	ENSG00000148584		"RNA binding motif (RRM) containing"	24086	protein-coding gene	gene with protein product						11815617, 11072063	Standard	NM_014576		Approved	ACF, ASP, ACF64, ACF65, APOBEC1CF	uc001jjj.3	Q9NQ94	OTTHUMG00000018240	ENST00000373993.1:c.1307C>A	10.37:g.52573657G>T	ENSP00000363105:p.Pro436His					A1CF_ENST00000374001.1_Missense_Mutation_p.P428H|A1CF_ENST00000373995.3_Missense_Mutation_p.P436H|A1CF_ENST00000373993.1_Missense_Mutation_p.P436H|ASAH2B_ENST00000483649.1_Intron|A1CF_ENST00000493415.1_5'UTR|A1CF_ENST00000395495.1_Missense_Mutation_p.P381H|A1CF_ENST00000373997.3_Missense_Mutation_p.P428H|A1CF_ENST00000282641.2_Missense_Mutation_p.P436H	p.P429H	NM_001198819.1	NP_001185748.1	Q9NQ94	A1CF_HUMAN			12	1682	-			436					A1L4F2|A8K7G7|B7ZM14|Q5SZQ0|Q9NQ93|Q9NQX8|Q9NQX9|Q9NXC9|Q9NZD3	Missense_Mutation	SNP	ENST00000373993.1	37	c.1286C>A	CCDS7242.1	.	.	.	.	.	.	.	.	.	.	G	11.64	1.698076	0.30142	.	.	ENSG00000148584	ENST00000374001;ENST00000373993;ENST00000373997;ENST00000373995;ENST00000282641;ENST00000395495;ENST00000395488;ENST00000395489	T;T;T;T;T;T;T	0.15017	2.71;2.7;2.71;2.68;2.7;2.46;2.69	5.87	4.94	0.65067	.	0.266360	0.43260	D	0.000600	T	0.17959	0.0431	L	0.47190	1.495	0.35850	D	0.826723	B;B;B;B	0.18013	0.017;0.002;0.003;0.025	B;B;B;B	0.21151	0.033;0.006;0.006;0.029	T	0.06481	-1.0824	10	0.46703	T	0.11	-7.5986	14.2085	0.65750	0.0:0.0:0.8505:0.1495	.	429;436;428;436	F8W9F8;Q9NQ94;Q9NQ94-2;Q9NQ94-4	.;A1CF_HUMAN;.;.	H	428;436;428;436;436;381;411;429	ENSP00000363113:P428H;ENSP00000363105:P436H;ENSP00000363109:P428H;ENSP00000363107:P436H;ENSP00000282641:P436H;ENSP00000378873:P381H;ENSP00000378868:P429H	ENSP00000282641:P436H	P	-	2	0	A1CF	52243663	1.000000	0.71417	1.000000	0.80357	0.317000	0.28152	6.073000	0.71245	2.780000	0.95670	0.655000	0.94253	CCT		0.433	A1CF-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048086.2	NM_014576		18	109	1	0	3.8784e-16	1	4.25337e-16	18	109					T	52573657	G	T	52573657	3	4	435	1	0	0	0	0	1	0	0	0	2	1000	35	5	493	5	A1CF	10	52573657	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	1618483	52573657	82961090	4677	25602											
A1CF	29974	broad.mit.edu	37	chr10	52587968	52587968	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gatttcttacatataggattTtcactgaagacattgtatct	12	17	6	6	0	3	2	1	1	2	1	3	4	3	3	0	1	1	1	0	1	5	8			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:52587968T>C	ENST00000373993.1	-	5	736	c.692A>G	c.(691-693)aAa>aGa	p.K231R	A1CF_ENST00000373997.3_Missense_Mutation_p.K231R|A1CF_ENST00000493415.1_5'UTR|A1CF_ENST00000282641.2_Missense_Mutation_p.K231R|A1CF_ENST00000395489.2_Missense_Mutation_p.K224R|A1CF_ENST00000374001.2_Missense_Mutation_p.K231R|A1CF_ENST00000395495.1_Intron|A1CF_ENST00000373995.3_Missense_Mutation_p.K239R			Q9NQ94	A1CF_HUMAN	APOBEC1 complementation factor	231	RRM 3. {ECO:0000255|PROSITE- ProRule:PRU00176}.				cytidine to uridine editing (GO:0016554)|gene expression (GO:0010467)|mRNA modification (GO:0016556)|mRNA processing (GO:0006397)|protein stabilization (GO:0050821)	apolipoprotein B mRNA editing enzyme complex (GO:0030895)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)|single-stranded RNA binding (GO:0003727)			NS(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(14)|prostate(2)|skin(3)	29						ATATAGGATTTTCACTGAAGA	0.363																																						ENST00000395489.2																			0				NS(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(14)|prostate(2)|skin(3)	29						c.(670-672)aAa>aGa		APOBEC1 complementation factor							142	139	140					10																	52587968		2203	4300	6503	SO:0001583	missense	29974				cytidine to uridine editing|mRNA modification|mRNA processing|protein stabilization	apolipoprotein B mRNA editing enzyme complex|endoplasmic reticulum|nucleoplasm	nucleotide binding|protein binding|single-stranded RNA binding	g.chr10:52587968T>C	AF271790	CCDS7241.1, CCDS7242.1, CCDS7243.1, CCDS73133.1	10q21.1	2013-02-12			ENSG00000148584	ENSG00000148584		"RNA binding motif (RRM) containing"	24086	protein-coding gene	gene with protein product						11815617, 11072063	Standard	NM_014576		Approved	ACF, ASP, ACF64, ACF65, APOBEC1CF	uc001jjj.3	Q9NQ94	OTTHUMG00000018240	ENST00000373993.1:c.692A>G	10.37:g.52587968T>C	ENSP00000363105:p.Lys231Arg					A1CF_ENST00000374001.1_Missense_Mutation_p.K231R|A1CF_ENST00000373995.3_Missense_Mutation_p.K239R|A1CF_ENST00000373993.1_Missense_Mutation_p.K231R|A1CF_ENST00000493415.1_5'UTR|A1CF_ENST00000395495.1_Intron|A1CF_ENST00000373997.3_Missense_Mutation_p.K231R|A1CF_ENST00000282641.2_Missense_Mutation_p.K231R	p.K224R	NM_001198819.1	NP_001185748.1	Q9NQ94	A1CF_HUMAN			9	1067	-			231					A1L4F2|A8K7G7|B7ZM14|Q5SZQ0|Q9NQ93|Q9NQX8|Q9NQX9|Q9NXC9|Q9NZD3	Missense_Mutation	SNP	ENST00000373993.1	37	c.671A>G	CCDS7242.1	.	.	.	.	.	.	.	.	.	.	T	24.4	4.525594	0.85600	.	.	ENSG00000148584	ENST00000374001;ENST00000373993;ENST00000373997;ENST00000373995;ENST00000282641;ENST00000395488;ENST00000395489	T;T;T;T;T;T	0.73152	-0.72;-0.72;-0.72;-0.72;-0.72;-0.72	5.48	5.48	0.80851	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (1);	0.000000	0.85682	D	0.000000	T	0.75708	0.3886	L	0.35288	1.05	0.80722	D	1	P;P;D;P	0.71674	0.537;0.609;0.998;0.562	B;B;D;B	0.80764	0.214;0.253;0.994;0.413	T	0.74853	-0.3523	10	0.36615	T	0.2	.	13.525	0.61591	0.0:0.0:0.0:1.0	.	224;231;231;239	F8W9F8;Q9NQ94;Q9NQ94-2;Q9NQ94-4	.;A1CF_HUMAN;.;.	R	231;231;231;239;231;214;224	ENSP00000363113:K231R;ENSP00000363105:K231R;ENSP00000363109:K231R;ENSP00000363107:K239R;ENSP00000282641:K231R;ENSP00000378868:K224R	ENSP00000282641:K231R	K	-	2	0	A1CF	52257974	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.698000	0.84413	2.076000	0.62316	0.460000	0.39030	AAA		0.363	A1CF-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048086.2	NM_014576		6	81	0	0	0	1	0	6	81					C	52587968	T	C	52587968	3	2	435	1	0	0	0	0	1	0	0	0	2	1841	64	4	1120	4	A1CF	10	52587968	Missense_Mutation	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	14311	52587968	82946779	4678	25603											
A1CF	29974	broad.mit.edu	37	chr10	52595924	52595924	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtttttggttttatctgcagCgcttgggtagacgatgacat	7	16	12	6	2	1	2	0	1	1	1	1	3	1	2	0	2	2	5	0	2	2	6			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:52595924C>T	ENST00000373993.1	-	4	558	c.514G>A	c.(514-516)Gct>Act	p.A172T	A1CF_ENST00000373997.3_Missense_Mutation_p.A172T|A1CF_ENST00000282641.2_Missense_Mutation_p.A172T|A1CF_ENST00000395489.2_Missense_Mutation_p.A165T|A1CF_ENST00000374001.2_Missense_Mutation_p.A172T|A1CF_ENST00000395495.1_Missense_Mutation_p.A172T|A1CF_ENST00000373995.3_Missense_Mutation_p.A180T			Q9NQ94	A1CF_HUMAN	APOBEC1 complementation factor	172	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				cytidine to uridine editing (GO:0016554)|gene expression (GO:0010467)|mRNA modification (GO:0016556)|mRNA processing (GO:0006397)|protein stabilization (GO:0050821)	apolipoprotein B mRNA editing enzyme complex (GO:0030895)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)|single-stranded RNA binding (GO:0003727)			NS(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(14)|prostate(2)|skin(3)	29						TTATCTGCAGCGCTTGGGTAG	0.468																																						ENST00000395489.2																			0				NS(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(14)|prostate(2)|skin(3)	29						c.(493-495)Gct>Act		APOBEC1 complementation factor							157	150	152					10																	52595924		2203	4300	6503	SO:0001583	missense	29974				cytidine to uridine editing|mRNA modification|mRNA processing|protein stabilization	apolipoprotein B mRNA editing enzyme complex|endoplasmic reticulum|nucleoplasm	nucleotide binding|protein binding|single-stranded RNA binding	g.chr10:52595924C>T	AF271790	CCDS7241.1, CCDS7242.1, CCDS7243.1, CCDS73133.1	10q21.1	2013-02-12			ENSG00000148584	ENSG00000148584		"RNA binding motif (RRM) containing"	24086	protein-coding gene	gene with protein product						11815617, 11072063	Standard	NM_014576		Approved	ACF, ASP, ACF64, ACF65, APOBEC1CF	uc001jjj.3	Q9NQ94	OTTHUMG00000018240	ENST00000373993.1:c.514G>A	10.37:g.52595924C>T	ENSP00000363105:p.Ala172Thr					A1CF_ENST00000374001.1_Missense_Mutation_p.A172T|A1CF_ENST00000373995.3_Missense_Mutation_p.A180T|A1CF_ENST00000373993.1_Missense_Mutation_p.A172T|A1CF_ENST00000395495.1_Missense_Mutation_p.A172T|A1CF_ENST00000373997.3_Missense_Mutation_p.A172T|A1CF_ENST00000282641.2_Missense_Mutation_p.A172T	p.A165T	NM_001198819.1	NP_001185748.1	Q9NQ94	A1CF_HUMAN			8	889	-			172			RRM 2.		A1L4F2|A8K7G7|B7ZM14|Q5SZQ0|Q9NQ93|Q9NQX8|Q9NQX9|Q9NXC9|Q9NZD3	Missense_Mutation	SNP	ENST00000373993.1	37	c.493G>A	CCDS7242.1	.	.	.	.	.	.	.	.	.	.	C	29.8	5.039138	0.93630	.	.	ENSG00000148584	ENST00000374001;ENST00000373993;ENST00000373997;ENST00000373995;ENST00000282641;ENST00000395495;ENST00000395488;ENST00000395489;ENST00000414883	T;T;T;T;T;T;T;T	0.12255	2.71;2.7;2.71;3.4;2.7;3.4;3.4;3.4	6.04	6.04	0.98038	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	T	0.35970	0.0950	L	0.60845	1.875	0.80722	D	1	B;P;D;B	0.89917	0.36;0.764;1.0;0.39	B;P;D;B	0.83275	0.108;0.55;0.996;0.246	T	0.00325	-1.1816	10	0.48119	T	0.1	-7.8232	18.0887	0.89466	0.0:1.0:0.0:0.0	.	165;172;172;180	F8W9F8;Q9NQ94;Q9NQ94-2;Q9NQ94-4	.;A1CF_HUMAN;.;.	T	172;172;172;180;172;172;155;165;172	ENSP00000363113:A172T;ENSP00000363105:A172T;ENSP00000363109:A172T;ENSP00000363107:A180T;ENSP00000282641:A172T;ENSP00000378873:A172T;ENSP00000378868:A165T;ENSP00000397953:A172T	ENSP00000282641:A172T	A	-	1	0	A1CF	52265930	1.000000	0.71417	0.955000	0.39395	0.976000	0.68499	5.916000	0.69981	2.873000	0.98535	0.563000	0.77884	GCT		0.468	A1CF-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048086.2	NM_014576		78	124	0	0	0	1	0	78	124					T	52595924	C	T	52595924	3	4	435	1	0	0	0	0	1	0	0	0	2	768	27	1	1302	1	A1CF	10	52595924	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	7956	52595924	82938823	4679	25604											
CSTF2T	23283	broad.mit.edu	37	chr10	53457601	53457601	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttctcctgatcctgtggaGtgacctggctctgcccagga	5	11	11	14	0	2	2	0	2	2	0	4	4	3	4	5	3	1	1	5	3	0	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:53457601G>T	ENST00000331173.4	-	1	1754	c.1709C>A	c.(1708-1710)aCt>aAt	p.T570N	PRKG1_ENST00000373985.1_Intron|PRKG1_ENST00000401604.2_Intron|PRKG1_ENST00000373980.4_Intron	NM_015235.2	NP_056050.1	Q9H0L4	CSTFT_HUMAN	cleavage stimulation factor, 3' pre-RNA, subunit 2, 64kDa, tau variant	570					mRNA processing (GO:0006397)	intracellular (GO:0005622)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	30				COAD - Colon adenocarcinoma(2;0.00736)|Colorectal(2;0.00898)|all cancers(4;0.0188)|GBM - Glioblastoma multiforme(4;0.0778)|Epithelial(53;0.122)		ATCCTGTGGAGTGACCTGGCT	0.527																																						ENST00000331173.4																			0				NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						c.(1708-1710)aCt>aAt		cleavage stimulation factor, 3' pre-RNA, subunit 2, 64kDa, tau variant							137	109	119					10																	53457601		2203	4300	6503	SO:0001583	missense	23283				mRNA processing	nucleus	nucleotide binding|RNA binding	g.chr10:53457601G>T	AB014589	CCDS7245.1	10q11	2013-02-12			ENSG00000177613	ENSG00000177613		"RNA binding motif (RRM) containing"	17086	protein-coding gene	gene with protein product		611968				12408968, 11113135	Standard	NM_015235		Approved	DKFZp434C1013, KIAA0689, CstF-64T	uc001jjp.3	Q9H0L4	OTTHUMG00000018246	ENST00000331173.4:c.1709C>A	10.37:g.53457601G>T	ENSP00000332444:p.Thr570Asn					PRKG1_ENST00000401604.2_Intron|PRKG1_ENST00000373980.4_Intron|PRKG1_ENST00000373985.1_Intron	p.T570N	NM_015235.2	NP_056050.1	Q9H0L4	CSTFT_HUMAN		COAD - Colon adenocarcinoma(2;0.00736)|Colorectal(2;0.00898)|all cancers(4;0.0188)|GBM - Glioblastoma multiforme(4;0.0778)|Epithelial(53;0.122)	1	1754	-			570					B2RAR9|O75174|Q53HK6|Q7LGE8|Q8N6T1	Missense_Mutation	SNP	ENST00000331173.4	37	c.1709C>A	CCDS7245.1	.	.	.	.	.	.	.	.	.	.	G	14.47	2.544765	0.45280	.	.	ENSG00000177613	ENST00000331173	T	0.23754	1.89	4.65	4.65	0.58169	.	0.170317	0.52532	D	0.000080	T	0.27169	0.0666	N	0.08118	0	0.49299	D	0.999775	D	0.61697	0.99	P	0.60236	0.871	T	0.16571	-1.0398	10	0.45353	T	0.12	-19.8823	15.4371	0.75155	0.0:0.0:1.0:0.0	.	570	Q9H0L4	CSTFT_HUMAN	N	570	ENSP00000332444:T570N	ENSP00000332444:T570N	T	-	2	0	CSTF2T	53127607	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.493000	0.60341	2.599000	0.87857	0.655000	0.94253	ACT		0.527	CSTF2T-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048097.1	NM_015235		9	16	1	0	1.12685e-05	1	1.16601e-05	9	16					T	53457601	G	T	53457601	3	4	435	1	0	0	0	0	1	0	0	0	3985	1029	36	5	145	5	CSTF2T	10	53457601	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	861677	53457601	82077146	4680	25605											
CSTF2T	23283	broad.mit.edu	37	chr10	53457635	53457635	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cccaggactaaaactgctagGctggcttccaccttgcttgc	8	10	9	14	0	0	0	0	0	0	0	1	1	1	1	3	3	4	4	3	3	3	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:53457635G>A	ENST00000331173.4	-	1	1720	c.1675C>T	c.(1675-1677)Cct>Tct	p.P559S	PRKG1_ENST00000373985.1_Intron|PRKG1_ENST00000401604.2_Intron|PRKG1_ENST00000373980.4_Intron	NM_015235.2	NP_056050.1	Q9H0L4	CSTFT_HUMAN	cleavage stimulation factor, 3' pre-RNA, subunit 2, 64kDa, tau variant	559					mRNA processing (GO:0006397)	intracellular (GO:0005622)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	30				COAD - Colon adenocarcinoma(2;0.00736)|Colorectal(2;0.00898)|all cancers(4;0.0188)|GBM - Glioblastoma multiforme(4;0.0778)|Epithelial(53;0.122)		AAActgctaggctggcttcca	0.532																																						ENST00000331173.4																			0				NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						c.(1675-1677)Cct>Tct		cleavage stimulation factor, 3' pre-RNA, subunit 2, 64kDa, tau variant							164	121	135					10																	53457635		2203	4300	6503	SO:0001583	missense	23283				mRNA processing	nucleus	nucleotide binding|RNA binding	g.chr10:53457635G>A	AB014589	CCDS7245.1	10q11	2013-02-12			ENSG00000177613	ENSG00000177613		"RNA binding motif (RRM) containing"	17086	protein-coding gene	gene with protein product		611968				12408968, 11113135	Standard	NM_015235		Approved	DKFZp434C1013, KIAA0689, CstF-64T	uc001jjp.3	Q9H0L4	OTTHUMG00000018246	ENST00000331173.4:c.1675C>T	10.37:g.53457635G>A	ENSP00000332444:p.Pro559Ser					PRKG1_ENST00000401604.2_Intron|PRKG1_ENST00000373980.4_Intron|PRKG1_ENST00000373985.1_Intron	p.P559S	NM_015235.2	NP_056050.1	Q9H0L4	CSTFT_HUMAN		COAD - Colon adenocarcinoma(2;0.00736)|Colorectal(2;0.00898)|all cancers(4;0.0188)|GBM - Glioblastoma multiforme(4;0.0778)|Epithelial(53;0.122)	1	1720	-			559					B2RAR9|O75174|Q53HK6|Q7LGE8|Q8N6T1	Missense_Mutation	SNP	ENST00000331173.4	37	c.1675C>T	CCDS7245.1	.	.	.	.	.	.	.	.	.	.	G	10.97	1.501214	0.26861	.	.	ENSG00000177613	ENST00000331173	T	0.25250	1.81	4.65	4.65	0.58169	.	0.376799	0.27315	N	0.019923	T	0.19644	0.0472	L	0.27053	0.805	0.35570	D	0.805379	B	0.22080	0.064	B	0.20184	0.028	T	0.14282	-1.0478	10	0.56958	D	0.05	-5.2168	13.2469	0.60028	0.0:0.0:1.0:0.0	.	559	Q9H0L4	CSTFT_HUMAN	S	559	ENSP00000332444:P559S	ENSP00000332444:P559S	P	-	1	0	CSTF2T	53127641	0.998000	0.40836	1.000000	0.80357	0.941000	0.58515	1.480000	0.35464	2.599000	0.87857	0.655000	0.94253	CCT		0.532	CSTF2T-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048097.1	NM_015235		4	13	0	0	0	1	0	4	13					A	53457635	G	A	53457635	3	1	435	1	0	0	0	0	1	0	0	0	3985	1203	42	3	179	3	CSTF2T	10	53457635	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	34	53457635	82077112	4681	25606											
CSTF2T	23283	broad.mit.edu	37	chr10	53457674	53457674	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcttgccccctgtatacctcCtccttgtatacctcctcctt	4	15	4	18	0	0	0	0	0	0	0	4	0	4	0	8	0	3	3	8	0	4	7	rs539295286	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:53457674C>A	ENST00000331173.4	-	1	1681	c.1636G>T	c.(1636-1638)Gga>Tga	p.G546*	PRKG1_ENST00000373985.1_Intron|PRKG1_ENST00000401604.2_Intron|PRKG1_ENST00000373980.4_Intron	NM_015235.2	NP_056050.1	Q9H0L4	CSTFT_HUMAN	cleavage stimulation factor, 3' pre-RNA, subunit 2, 64kDa, tau variant	546	9 X 5 AA tandem repeats of G-[AT]-G-[MI]- Q.|Gly-rich.				mRNA processing (GO:0006397)	intracellular (GO:0005622)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	30				COAD - Colon adenocarcinoma(2;0.00736)|Colorectal(2;0.00898)|all cancers(4;0.0188)|GBM - Glioblastoma multiforme(4;0.0778)|Epithelial(53;0.122)		tgtatacctcctccttgtata	0.547																																						ENST00000331173.4																			0				NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						c.(1636-1638)Gga>Tga		cleavage stimulation factor, 3' pre-RNA, subunit 2, 64kDa, tau variant							166	120	135					10																	53457674		2202	4300	6502	SO:0001587	stop_gained	23283				mRNA processing	nucleus	nucleotide binding|RNA binding	g.chr10:53457674C>A	AB014589	CCDS7245.1	10q11	2013-02-12			ENSG00000177613	ENSG00000177613		"RNA binding motif (RRM) containing"	17086	protein-coding gene	gene with protein product		611968				12408968, 11113135	Standard	NM_015235		Approved	DKFZp434C1013, KIAA0689, CstF-64T	uc001jjp.3	Q9H0L4	OTTHUMG00000018246	ENST00000331173.4:c.1636G>T	10.37:g.53457674C>A	ENSP00000332444:p.Gly546*					PRKG1_ENST00000401604.2_Intron|PRKG1_ENST00000373980.4_Intron|PRKG1_ENST00000373985.1_Intron	p.G546*	NM_015235.2	NP_056050.1	Q9H0L4	CSTFT_HUMAN		COAD - Colon adenocarcinoma(2;0.00736)|Colorectal(2;0.00898)|all cancers(4;0.0188)|GBM - Glioblastoma multiforme(4;0.0778)|Epithelial(53;0.122)	1	1681	-			546			9 X 5 AA tandem repeats of G-[AT]-G-[MI]- Q.|Gly-rich.		B2RAR9|O75174|Q53HK6|Q7LGE8|Q8N6T1	Nonsense_Mutation	SNP	ENST00000331173.4	37	c.1636G>T	CCDS7245.1	.	.	.	.	.	.	.	.	.	.	C	12.97	2.097230	0.37048	.	.	ENSG00000177613	ENST00000331173	.	.	.	3.13	-0.0943	0.13645	.	0.905832	0.09060	N	0.854492	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	4.8373	5.7048	0.17903	0.0:0.5971:0.0:0.4029	.	.	.	.	X	546	.	ENSP00000332444:G546X	G	-	1	0	CSTF2T	53127680	0.000000	0.05858	0.098000	0.21074	0.140000	0.21249	0.450000	0.21762	-0.015000	0.14150	0.563000	0.77884	GGA		0.547	CSTF2T-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048097.1	NM_015235		5	9	1	0	0.000602214	1	0.000612743	5	9					A	53457674	C	A	53457674	4	1	435	1	0	0	0	0	0	1	0	0	3985	690	24	5	218	5	CSTF2T	10	53457674	Nonsense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	39	53457674	82077073	4682	25607											
CSTF2T	23283	broad.mit.edu	37	chr10	53459282	53459282	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	acgcagtgatcgatccattgCcgggtctctcaccgccaaac	9	8	9	15	4	2	1	1	1	1	0	5	2	3	1	4	1	2	1	4	1	1	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:53459282C>T	ENST00000331173.4	-	1	73	c.28G>A	c.(28-30)Gca>Aca	p.A10T	PRKG1_ENST00000373985.1_Intron|PRKG1_ENST00000401604.2_Intron|PRKG1_ENST00000373980.4_Intron	NM_015235.2	NP_056050.1	Q9H0L4	CSTFT_HUMAN	cleavage stimulation factor, 3' pre-RNA, subunit 2, 64kDa, tau variant	10					mRNA processing (GO:0006397)	intracellular (GO:0005622)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	30				COAD - Colon adenocarcinoma(2;0.00736)|Colorectal(2;0.00898)|all cancers(4;0.0188)|GBM - Glioblastoma multiforme(4;0.0778)|Epithelial(53;0.122)		CGATCCATTGCCGGGTCTCTC	0.537																																						ENST00000331173.4																			0				NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						c.(28-30)Gca>Aca		cleavage stimulation factor, 3' pre-RNA, subunit 2, 64kDa, tau variant							95	97	97					10																	53459282		2199	4292	6491	SO:0001583	missense	23283				mRNA processing	nucleus	nucleotide binding|RNA binding	g.chr10:53459282C>T	AB014589	CCDS7245.1	10q11	2013-02-12			ENSG00000177613	ENSG00000177613		"RNA binding motif (RRM) containing"	17086	protein-coding gene	gene with protein product		611968				12408968, 11113135	Standard	NM_015235		Approved	DKFZp434C1013, KIAA0689, CstF-64T	uc001jjp.3	Q9H0L4	OTTHUMG00000018246	ENST00000331173.4:c.28G>A	10.37:g.53459282C>T	ENSP00000332444:p.Ala10Thr					PRKG1_ENST00000401604.2_Intron|PRKG1_ENST00000373980.4_Intron|PRKG1_ENST00000373985.1_Intron	p.A10T	NM_015235.2	NP_056050.1	Q9H0L4	CSTFT_HUMAN		COAD - Colon adenocarcinoma(2;0.00736)|Colorectal(2;0.00898)|all cancers(4;0.0188)|GBM - Glioblastoma multiforme(4;0.0778)|Epithelial(53;0.122)	1	73	-			10					B2RAR9|O75174|Q53HK6|Q7LGE8|Q8N6T1	Missense_Mutation	SNP	ENST00000331173.4	37	c.28G>A	CCDS7245.1	.	.	.	.	.	.	.	.	.	.	C	18.40	3.616176	0.66672	.	.	ENSG00000177613	ENST00000331173	T	0.74526	-0.85	5.0	5.0	0.66597	Nucleotide-binding, alpha-beta plait (1);	0.000000	0.85682	D	0.000000	T	0.61426	0.2346	N	0.14661	0.345	0.80722	D	1	B	0.20780	0.048	B	0.26770	0.073	T	0.57860	-0.7738	10	0.39692	T	0.17	-11.4717	16.1932	0.82005	0.0:1.0:0.0:0.0	.	10	Q9H0L4	CSTFT_HUMAN	T	10	ENSP00000332444:A10T	ENSP00000332444:A10T	A	-	1	0	CSTF2T	53129288	1.000000	0.71417	0.983000	0.44433	0.997000	0.91878	4.696000	0.61774	2.773000	0.95371	0.585000	0.79938	GCA		0.537	CSTF2T-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048097.1	NM_015235		38	70	0	0	0	1	0	38	70					T	53459282	C	T	53459282	3	4	435	1	0	0	0	0	1	0	0	0	3985	739	26	3	1826	3	CSTF2T	10	53459282	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	1608	53459282	82075465	4683	25608											
DKK1	22943	broad.mit.edu	37	chr10	54074735	54074735	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cactgatgagtactgcgctaGtcccacccgcggaggggacg	8	6	14	13	4	0	2	0	2	0	0	1	4	1	4	2	3	2	2	2	3	2	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:54074735G>A	ENST00000373970.3	+	2	435	c.296G>A	c.(295-297)aGt>aAt	p.S99N	DKK1_ENST00000467359.1_3'UTR|PRKG1-AS1_ENST00000420193.1_RNA	NM_012242.2	NP_036374.1	O94907	DKK1_HUMAN	dickkopf WNT signaling pathway inhibitor 1	99	DKK-type Cys-1.				cell morphogenesis involved in differentiation (GO:0000904)|embryonic limb morphogenesis (GO:0030326)|endoderm formation (GO:0001706)|extracellular negative regulation of signal transduction (GO:1900116)|face morphogenesis (GO:0060325)|forebrain development (GO:0030900)|hair follicle development (GO:0001942)|mesoderm formation (GO:0001707)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of canonical Wnt signaling pathway involved in cardiac muscle cell fate commitment (GO:1901296)|negative regulation of cardiac muscle cell differentiation (GO:2000726)|negative regulation of mesodermal cell fate specification (GO:0042662)|negative regulation of pathway-restricted SMAD protein phosphorylation (GO:0060394)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|negative regulation of protein complex assembly (GO:0031333)|negative regulation of skeletal muscle tissue development (GO:0048642)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of Wnt signaling pathway (GO:0030178)|positive regulation of heart induction by negative regulation of canonical Wnt signaling pathway (GO:0090082)|regulation of endodermal cell fate specification (GO:0042663)|regulation of receptor internalization (GO:0002090)|response to retinoic acid (GO:0032526)|Wnt signaling pathway involved in somitogenesis (GO:0090244)	extracellular space (GO:0005615)|plasma membrane (GO:0005886)	growth factor activity (GO:0008083)|low-density lipoprotein particle receptor binding (GO:0050750)|receptor antagonist activity (GO:0048019)|signal transducer activity (GO:0004871)			kidney(2)|large_intestine(4)|lung(7)|ovary(1)|upper_aerodigestive_tract(2)	16						TACTGCGCTAGTCCCACCCGC	0.642											OREG0020191	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000373970.3																			0				kidney(2)|large_intestine(4)|lung(7)|ovary(1)|upper_aerodigestive_tract(2)	16						c.(295-297)aGt>aAt		dickkopf WNT signaling pathway inhibitor 1							41	35	37					10																	54074735		2203	4300	6503	SO:0001583	missense	22943				negative regulation of peptidyl-serine phosphorylation|negative regulation of protein complex assembly|negative regulation of transcription from RNA polymerase II promoter|positive regulation of heart induction by negative regulation of canonical Wnt receptor signaling pathway|regulation of receptor internalization	extracellular space|plasma membrane	growth factor activity|low-density lipoprotein particle receptor binding|receptor antagonist activity|signal transducer activity	g.chr10:54074735G>A		CCDS7246.1	10q11.2	2013-05-15	2013-05-15		ENSG00000107984	ENSG00000107984			2891	protein-coding gene	gene with protein product		605189	"dickkopf (Xenopus laevis) homolog 1", "dickkopf 1 homolog (Xenopus laevis)"				Standard	NM_012242		Approved	SK, DKK-1	uc001jjr.3	O94907	OTTHUMG00000018247	ENST00000373970.3:c.296G>A	10.37:g.54074735G>A	ENSP00000363081:p.Ser99Asn		OREG0020191	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	997	DKK1_ENST00000467359.1_3'UTR	p.S99N	NM_012242.2	NP_036374.1	O94907	DKK1_HUMAN			2	435	+			99			DKK-type Cys-1.		B2RC19	Missense_Mutation	SNP	ENST00000373970.3	37	c.296G>A	CCDS7246.1	.	.	.	.	.	.	.	.	.	.	G	15.82	2.947083	0.53186	.	.	ENSG00000107984	ENST00000373970	T	0.46063	0.88	5.63	5.63	0.86233	Dickkopf, N-terminal cysteine-rich (1);	0.313122	0.40222	N	0.001155	T	0.43942	0.1270	M	0.71581	2.175	0.28931	N	0.891546	B	0.25772	0.134	B	0.27170	0.077	T	0.42481	-0.9449	10	0.39692	T	0.17	-10.9349	12.5476	0.56208	0.0803:0.0:0.9197:0.0	.	99	O94907	DKK1_HUMAN	N	99	ENSP00000363081:S99N	ENSP00000363081:S99N	S	+	2	0	DKK1	53744741	0.003000	0.15002	0.670000	0.29842	0.986000	0.74619	1.468000	0.35332	2.639000	0.89480	0.650000	0.86243	AGT		0.642	DKK1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048100.1			8	19	0	0	0	1	0	8	19					A	54074735	G	A	54074735	3	1	435	1	0	0	0	0	1	0	0	0	4544	1029	36	3	302	3	DKK1	10	54074735	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	615453	54074735	81460012	4684	25609											
PCDH15	65217	broad.mit.edu	37	chr10	55566511	55566511	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgttccttagtggcttcaccGctgtattgtcagtccccaca	6	14	8	13	1	2	0	2	0	0	0	4	0	4	0	4	1	0	4	4	1	2	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:55566511G>A	ENST00000373965.2	-	36	5277	c.4883C>T	c.(4882-4884)gCg>gTg	p.A1628V	PCDH15_ENST00000414778.1_Missense_Mutation_p.A1625V	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	0					equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	calcium ion binding (GO:0005509)			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				TGGCTTCACCGCTGTATTGTC	0.448										HNSCC(58;0.16)																												ENST00000373965.2																			0				NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237						c.(4882-4884)gCg>gTg		protocadherin-related 15							305	268	279					10																	55566511		1568	3582	5150	SO:0001583	missense	65217				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding	g.chr10:55566511G>A	AY029205	CCDS7248.1, CCDS44400.1, CCDS44401.1, CCDS44403.1, CCDS44404.1, CCDS73134.1, CCDS73135.1, CCDS73136.1, CCDS73137.1, CCDS73138.1	10q21.1	2013-01-08	2010-01-25		ENSG00000150275	ENSG00000150275		"Cadherins / Cadherin-related"	14674	protein-coding gene	gene with protein product	"cadherin-related family member 15"	605514	"deafness, autosomal recessive 23", "protocadherin 15"	USH1F, DFNB23		11398101, 14570705	Standard	NM_033056		Approved	CDHR15	uc010qhy.1	Q96QU1	OTTHUMG00000018259	ENST00000373965.2:c.4883C>T	10.37:g.55566511G>A	ENSP00000363076:p.Ala1628Val	HNSCC(58;0.16)				PCDH15_ENST00000414778.1_Missense_Mutation_p.A1625V	p.A1628V	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN			36	5277	-		Melanoma(3;0.117)|Lung SC(717;0.238)	0					A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Missense_Mutation	SNP	ENST00000373965.2	37	c.4883C>T		.	.	.	.	.	.	.	.	.	.	G	0.661	-0.805728	0.02819	.	.	ENSG00000150275	ENST00000373965;ENST00000414778;ENST00000455746	T;T	0.56444	0.46;0.51	6.02	3.15	0.36227	.	.	.	.	.	T	0.34861	0.0912	N	0.20685	0.6	0.09310	N	1	B;B	0.09022	0.002;0.002	B;B	0.01281	0.0;0.0	T	0.20371	-1.0277	9	0.35671	T	0.21	.	7.552	0.27802	0.2017:0.1214:0.6769:0.0	.	1619;1625	C6ZEF7;C9J4F3	.;.	V	1628;1625;1621	ENSP00000363076:A1628V;ENSP00000410304:A1625V	ENSP00000363076:A1628V	A	-	2	0	PCDH15	55236517	0.059000	0.20769	0.000000	0.03702	0.004000	0.04260	2.582000	0.46085	0.424000	0.26061	-0.137000	0.14449	GCG		0.448	PCDH15-008	NOVEL	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000291336.1	NM_033056		70	103	0	0	0	1	0	70	103					A	55566511	G	A	55566511	3	1	435	1	0	0	0	0	1	0	0	0	11511	1087	38	1	175	1	PCDH15	10	55566511	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	1491776	55566511	79968236	4685	25610											
PCDH15	65217	broad.mit.edu	37	chr10	55569172	55569172	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	actttcttaaaaatcatgggGaatattctggctctcttcca	11	15	6	9	0	4	0	1	0	3	0	6	1	5	1	1	3	0	1	1	3	5	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:55569172G>A	ENST00000395445.1	-	36	5032	c.4638C>T	c.(4636-4638)ttC>ttT	p.F1546F	PCDH15_ENST00000395442.1_Silent_p.F411F|PCDH15_ENST00000409834.1_3'UTR|PCDH15_ENST00000395446.1_Silent_p.F742F|PCDH15_ENST00000414778.1_Intron|PCDH15_ENST00000373965.2_Intron|PCDH15_ENST00000395438.1_3'UTR|PCDH15_ENST00000395440.1_Silent_p.F480F	NM_001142769.1	NP_001136241.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	0					equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	calcium ion binding (GO:0005509)			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				AAATCATGGGGAATATTCTGG	0.423										HNSCC(58;0.16)																												ENST00000395445.1																			0				NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237						c.(4636-4638)ttC>ttT		protocadherin-related 15							170	156	161					10																	55569172		1568	3582	5150	SO:0001819	synonymous_variant	65217				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding	g.chr10:55569172G>A	AY029205	CCDS7248.1, CCDS44400.1, CCDS44401.1, CCDS44403.1, CCDS44404.1, CCDS73134.1, CCDS73135.1, CCDS73136.1, CCDS73137.1, CCDS73138.1	10q21.1	2013-01-08	2010-01-25		ENSG00000150275	ENSG00000150275		"Cadherins / Cadherin-related"	14674	protein-coding gene	gene with protein product	"cadherin-related family member 15"	605514	"deafness, autosomal recessive 23", "protocadherin 15"	USH1F, DFNB23		11398101, 14570705	Standard	NM_033056		Approved	CDHR15	uc010qhy.1	Q96QU1	OTTHUMG00000018259	ENST00000395445.1:c.4638C>T	10.37:g.55569172G>A		HNSCC(58;0.16)				PCDH15_ENST00000395440.1_Silent_p.F480F|PCDH15_ENST00000409834.1_3'UTR|PCDH15_ENST00000414778.1_Intron|PCDH15_ENST00000395442.1_Silent_p.F411F|PCDH15_ENST00000373965.2_Intron|PCDH15_ENST00000395446.1_Silent_p.F742F|PCDH15_ENST00000395438.1_3'UTR	p.F1546F	NM_001142769.1	NP_001136241.1	Q96QU1	PCD15_HUMAN			36	5032	-		Melanoma(3;0.117)|Lung SC(717;0.238)	0					A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Silent	SNP	ENST00000395445.1	37	c.4638C>T																																																																																					0.423	PCDH15-007	NOVEL	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000291335.1	NM_033056		20	29	0	0	0	1	0	20	29					A	55569172	G	A	55569172	2	1	435	1	0	0	0	0	0	0	0	1	11511	1165	41	3		3	PCDH15	10	55569172	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	2661	55569172	79965575	4686	25611											
PCDH15	65217	broad.mit.edu	37	chr10	55591228	55591228	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gagtccggatctccagaatgCgtcctccttccccataatac	9	10	7	15	2	1	1	0	0	1	1	6	3	5	2	6	1	2	0	6	1	3	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:55591228C>T	ENST00000320301.6	-	30	4443	c.4049G>A	c.(4048-4050)cGc>cAc	p.R1350H	PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000395430.1_Missense_Mutation_p.R1350H|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000409834.1_Missense_Mutation_p.R961H|PCDH15_ENST00000361849.3_Missense_Mutation_p.R1350H|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000414778.1_Missense_Mutation_p.R1355H|PCDH15_ENST00000395433.1_Missense_Mutation_p.R1328H|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000373965.2_Missense_Mutation_p.R1357H|PCDH15_ENST00000395438.1_Missense_Mutation_p.R1350H|PCDH15_ENST00000395445.1_Missense_Mutation_p.R1357H|PCDH15_ENST00000437009.1_Missense_Mutation_p.R1279H|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395432.2_Missense_Mutation_p.R1313H	NM_033056.3	NP_149045.3	Q96QU1	PCD15_HUMAN	protocadherin-related 15	1350					equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	calcium ion binding (GO:0005509)	p.R1350H(2)|p.R1355H(2)		NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				CTCCAGAATGCGTCCTCCTTC	0.418										HNSCC(58;0.16)																												ENST00000373965.2																			4	Substitution - Missense(4)	p.R1350H(2)|p.R1355H(2)	endometrium(4)	NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237						c.(4069-4071)cGc>cAc		protocadherin-related 15							174	155	162					10																	55591228		2203	4300	6503	SO:0001583	missense	65217				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding	g.chr10:55591228C>T	AY029205	CCDS7248.1, CCDS44400.1, CCDS44401.1, CCDS44403.1, CCDS44404.1, CCDS73134.1, CCDS73135.1, CCDS73136.1, CCDS73137.1, CCDS73138.1	10q21.1	2013-01-08	2010-01-25		ENSG00000150275	ENSG00000150275		"Cadherins / Cadherin-related"	14674	protein-coding gene	gene with protein product	"cadherin-related family member 15"	605514	"deafness, autosomal recessive 23", "protocadherin 15"	USH1F, DFNB23		11398101, 14570705	Standard	NM_033056		Approved	CDHR15	uc010qhy.1	Q96QU1	OTTHUMG00000018259	ENST00000320301.6:c.4049G>A	10.37:g.55591228C>T	ENSP00000322604:p.Arg1350His	HNSCC(58;0.16)				PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000320301.6_Missense_Mutation_p.R1350H|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000409834.1_Missense_Mutation_p.R961H|PCDH15_ENST00000361849.3_Missense_Mutation_p.R1350H|PCDH15_ENST00000437009.1_Missense_Mutation_p.R1279H|PCDH15_ENST00000414778.1_Missense_Mutation_p.R1355H|PCDH15_ENST00000395433.1_Missense_Mutation_p.R1328H|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395430.1_Missense_Mutation_p.R1350H|PCDH15_ENST00000395445.1_Missense_Mutation_p.R1357H|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000395438.1_Missense_Mutation_p.R1350H|PCDH15_ENST00000395432.2_Missense_Mutation_p.R1313H	p.R1357H	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN			31	4464	-		Melanoma(3;0.117)|Lung SC(717;0.238)	1350					A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Missense_Mutation	SNP	ENST00000320301.6	37	c.4070G>A	CCDS7248.1	.	.	.	.	.	.	.	.	.	.	C	29.7	5.032480	0.93575	.	.	ENSG00000150275	ENST00000373965;ENST00000414778;ENST00000455746;ENST00000395438;ENST00000409834;ENST00000395445;ENST00000395432;ENST00000361849;ENST00000395433;ENST00000320301;ENST00000395430;ENST00000417177;ENST00000437009	T;T;T;T;T;T;T;T;T;T;T	0.60171	0.37;0.43;0.35;0.36;0.32;0.26;0.21;0.29;0.22;0.23;0.22	5.75	5.75	0.90469	.	.	.	.	.	T	0.70090	0.3184	L	0.36672	1.1	0.80722	D	1	D;D;D;D;D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D;D;D;D;D	0.91635	0.997;0.999;0.999;0.998;0.999;0.999;0.997;0.999;0.999;0.999;0.999;0.999;0.999	T	0.71189	-0.4666	9	0.66056	D	0.02	.	19.539	0.95267	0.0:1.0:0.0:0.0	.	1328;1350;1350;1355;1279;1313;1350;1350;1357;1357;1350;1355;1350	A2A3E8;E7EMG4;A2A3E7;C9JIG1;E7EM53;E7EMG0;A2A3E6;A2A3E3;C6ZEF5;A2A3E2;C6ZEF7;C9J4F3;Q96QU1	.;.;.;.;.;.;.;.;.;.;.;.;PCD15_HUMAN	H	1357;1355;1350;1350;961;1357;1313;1350;1328;1350;1350;1355;1279	ENSP00000363076:R1357H;ENSP00000410304:R1355H;ENSP00000378826:R1350H;ENSP00000386693:R961H;ENSP00000378832:R1357H;ENSP00000378820:R1313H;ENSP00000354950:R1350H;ENSP00000378821:R1328H;ENSP00000322604:R1350H;ENSP00000378818:R1350H;ENSP00000412628:R1279H	ENSP00000322604:R1350H	R	-	2	0	PCDH15	55261234	1.000000	0.71417	0.999000	0.59377	0.785000	0.44390	7.814000	0.86154	2.709000	0.92574	0.585000	0.79938	CGC		0.418	PCDH15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000048121.2	NM_033056		23	51	0	0	0	1	0	23	51					T	55591228	C	T	55591228	3	4	435	1	0	0	0	0	1	0	0	0	11511	768	27	1	3453	1	PCDH15	10	55591228	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	22056	55591228	79943519	4687	25612											
PCDH15	65217	broad.mit.edu	37	chr10	55892669	55892669	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	aaacagcaccaaccctcatgGcttcactaatttcaaggcta	14	9	5	13	0	3	0	3	0	0	0	3	0	3	0	2	2	3	3	2	2	5	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:55892669G>A	ENST00000320301.6	-	15	2277	c.1883C>T	c.(1882-1884)gCc>gTc	p.A628V	PCDH15_ENST00000373957.3_Missense_Mutation_p.A606V|PCDH15_ENST00000395430.1_Missense_Mutation_p.A628V|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000409834.1_Missense_Mutation_p.A239V|PCDH15_ENST00000361849.3_Missense_Mutation_p.A628V|PCDH15_ENST00000373955.1_Missense_Mutation_p.A628V|PCDH15_ENST00000395446.1_Missense_Mutation_p.A628V|PCDH15_ENST00000414778.1_Missense_Mutation_p.A633V|PCDH15_ENST00000395433.1_Missense_Mutation_p.A606V|PCDH15_ENST00000373965.2_Missense_Mutation_p.A635V|PCDH15_ENST00000395438.1_Missense_Mutation_p.A628V|PCDH15_ENST00000395445.1_Missense_Mutation_p.A635V|PCDH15_ENST00000437009.1_Intron|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395432.2_Missense_Mutation_p.A591V	NM_033056.3	NP_149045.3	Q96QU1	PCD15_HUMAN	protocadherin-related 15	628	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	calcium ion binding (GO:0005509)			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				AACCCTCATGGCTTCACTAAT	0.413										HNSCC(58;0.16)																												ENST00000373965.2																			0				NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237						c.(1903-1905)gCc>gTc		protocadherin-related 15							118	97	104					10																	55892669		2203	4300	6503	SO:0001583	missense	65217				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding	g.chr10:55892669G>A	AY029205	CCDS7248.1, CCDS44400.1, CCDS44401.1, CCDS44403.1, CCDS44404.1, CCDS73134.1, CCDS73135.1, CCDS73136.1, CCDS73137.1, CCDS73138.1	10q21.1	2013-01-08	2010-01-25		ENSG00000150275	ENSG00000150275		"Cadherins / Cadherin-related"	14674	protein-coding gene	gene with protein product	"cadherin-related family member 15"	605514	"deafness, autosomal recessive 23", "protocadherin 15"	USH1F, DFNB23		11398101, 14570705	Standard	NM_033056		Approved	CDHR15	uc010qhy.1	Q96QU1	OTTHUMG00000018259	ENST00000320301.6:c.1883C>T	10.37:g.55892669G>A	ENSP00000322604:p.Ala628Val	HNSCC(58;0.16)				PCDH15_ENST00000373957.3_Missense_Mutation_p.A606V|PCDH15_ENST00000320301.6_Missense_Mutation_p.A628V|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000409834.1_Missense_Mutation_p.A239V|PCDH15_ENST00000361849.3_Missense_Mutation_p.A628V|PCDH15_ENST00000437009.1_Intron|PCDH15_ENST00000373955.1_Missense_Mutation_p.A628V|PCDH15_ENST00000414778.1_Missense_Mutation_p.A633V|PCDH15_ENST00000395433.1_Missense_Mutation_p.A606V|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395430.1_Missense_Mutation_p.A628V|PCDH15_ENST00000395445.1_Missense_Mutation_p.A635V|PCDH15_ENST00000395446.1_Missense_Mutation_p.A628V|PCDH15_ENST00000395438.1_Missense_Mutation_p.A628V|PCDH15_ENST00000395432.2_Missense_Mutation_p.A591V	p.A635V	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN			16	2298	-		Melanoma(3;0.117)|Lung SC(717;0.238)	628			Cadherin 6.		A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Missense_Mutation	SNP	ENST00000320301.6	37	c.1904C>T	CCDS7248.1	.	.	.	.	.	.	.	.	.	.	G	35	5.440175	0.96168	.	.	ENSG00000150275	ENST00000373965;ENST00000414778;ENST00000455746;ENST00000395438;ENST00000409834;ENST00000395445;ENST00000395446;ENST00000395432;ENST00000361849;ENST00000395433;ENST00000373957;ENST00000320301;ENST00000395430;ENST00000417177;ENST00000373955	T;T;T;T;T;T;T;T;T;T;T;T;T	0.61274	0.12;0.12;0.12;0.12;0.12;1.13;0.12;0.12;0.12;0.12;0.12;0.12;0.12	5.67	5.67	0.87782	Cadherin (3);Cadherin-like (1);	.	.	.	.	T	0.74359	0.3706	L	0.58583	1.82	0.80722	D	1	D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.89917	0.999;1.0;0.999;0.996;1.0;0.999;0.999;1.0;0.999;0.999;1.0;1.0;0.997;0.999	D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.91635	0.999;0.994;0.99;0.977;0.997;0.999;0.997;0.994;0.991;0.994;0.997;0.994;0.976;0.992	T	0.74624	-0.3603	9	0.66056	D	0.02	.	18.9066	0.92464	0.0:0.0:1.0:0.0	.	606;628;628;633;591;628;628;635;635;628;633;628;606;628	A2A3E8;E7EMG4;A2A3E7;C9JIG1;E7EMG0;A2A3E6;A2A3E3;C6ZEF5;A2A3E2;C6ZEF7;C9J4F3;Q96QU1-3;A2A3D8;Q96QU1	.;.;.;.;.;.;.;.;.;.;.;.;.;PCD15_HUMAN	V	635;633;628;628;239;635;628;591;628;606;606;628;628;633;628	ENSP00000363076:A635V;ENSP00000410304:A633V;ENSP00000378826:A628V;ENSP00000386693:A239V;ENSP00000378832:A635V;ENSP00000378833:A628V;ENSP00000378820:A591V;ENSP00000354950:A628V;ENSP00000378821:A606V;ENSP00000363068:A606V;ENSP00000322604:A628V;ENSP00000378818:A628V;ENSP00000363066:A628V	ENSP00000322604:A628V	A	-	2	0	PCDH15	55562675	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.490000	0.81461	2.838000	0.97847	0.591000	0.81541	GCC		0.413	PCDH15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000048121.2	NM_033056		9	16	0	0	0	1	0	9	16					A	55892669	G	A	55892669	3	1	435	1	0	0	0	0	1	0	0	0	11511	1203	42	3	5679	3	PCDH15	10	55892669	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	301441	55892669	79642078	4688	25613											
PCDH15	65217	broad.mit.edu	37	chr10	55955612	55955612	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gtatttcaatgtgtagaccgGcaaaggcaggaagaggatga	14	8	14	5	1	1	3	1	1	0	2	1	5	1	5	1	4	0	4	1	4	5	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:55955612G>T	ENST00000320301.6	-	11	1530	c.1136C>A	c.(1135-1137)gCc>gAc	p.A379D	PCDH15_ENST00000373957.3_Missense_Mutation_p.A357D|PCDH15_ENST00000395430.1_Missense_Mutation_p.A379D|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000409834.1_5'UTR|PCDH15_ENST00000361849.3_Missense_Mutation_p.A379D|PCDH15_ENST00000373955.1_Missense_Mutation_p.A379D|PCDH15_ENST00000395446.1_Missense_Mutation_p.A379D|PCDH15_ENST00000414778.1_Missense_Mutation_p.A384D|PCDH15_ENST00000395433.1_Missense_Mutation_p.A357D|PCDH15_ENST00000373965.2_Missense_Mutation_p.A379D|PCDH15_ENST00000395438.1_Missense_Mutation_p.A379D|PCDH15_ENST00000395445.1_Missense_Mutation_p.A379D|PCDH15_ENST00000437009.1_Missense_Mutation_p.A379D|PCDH15_ENST00000395440.1_Missense_Mutation_p.A379D|PCDH15_ENST00000395432.2_Missense_Mutation_p.A342D	NM_033056.3	NP_149045.3	Q96QU1	PCD15_HUMAN	protocadherin-related 15	379	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	calcium ion binding (GO:0005509)			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				GTGTAGACCGGCAAAGGCAGG	0.383										HNSCC(58;0.16)																												ENST00000373965.2																			0				NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237						c.(1135-1137)gCc>gAc		protocadherin-related 15							124	119	121					10																	55955612		2203	4300	6503	SO:0001583	missense	65217				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding	g.chr10:55955612G>T	AY029205	CCDS7248.1, CCDS44400.1, CCDS44401.1, CCDS44403.1, CCDS44404.1, CCDS73134.1, CCDS73135.1, CCDS73136.1, CCDS73137.1, CCDS73138.1	10q21.1	2013-01-08	2010-01-25		ENSG00000150275	ENSG00000150275		"Cadherins / Cadherin-related"	14674	protein-coding gene	gene with protein product	"cadherin-related family member 15"	605514	"deafness, autosomal recessive 23", "protocadherin 15"	USH1F, DFNB23		11398101, 14570705	Standard	NM_033056		Approved	CDHR15	uc010qhy.1	Q96QU1	OTTHUMG00000018259	ENST00000320301.6:c.1136C>A	10.37:g.55955612G>T	ENSP00000322604:p.Ala379Asp	HNSCC(58;0.16)				PCDH15_ENST00000373957.3_Missense_Mutation_p.A357D|PCDH15_ENST00000320301.6_Missense_Mutation_p.A379D|PCDH15_ENST00000395440.1_Missense_Mutation_p.A379D|PCDH15_ENST00000409834.1_5'UTR|PCDH15_ENST00000361849.3_Missense_Mutation_p.A379D|PCDH15_ENST00000437009.1_Missense_Mutation_p.A379D|PCDH15_ENST00000373955.1_Missense_Mutation_p.A379D|PCDH15_ENST00000414778.1_Missense_Mutation_p.A384D|PCDH15_ENST00000395433.1_Missense_Mutation_p.A357D|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395430.1_Missense_Mutation_p.A379D|PCDH15_ENST00000395445.1_Missense_Mutation_p.A379D|PCDH15_ENST00000395446.1_Missense_Mutation_p.A379D|PCDH15_ENST00000395438.1_Missense_Mutation_p.A379D|PCDH15_ENST00000395432.2_Missense_Mutation_p.A342D	p.A379D	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN			11	1530	-		Melanoma(3;0.117)|Lung SC(717;0.238)	379			Cadherin 3.		A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Missense_Mutation	SNP	ENST00000320301.6	37	c.1136C>A	CCDS7248.1	.	.	.	.	.	.	.	.	.	.	G	26.3	4.728853	0.89390	.	.	ENSG00000150275	ENST00000373965;ENST00000414778;ENST00000455746;ENST00000395438;ENST00000395445;ENST00000395446;ENST00000395440;ENST00000395432;ENST00000361849;ENST00000395433;ENST00000373957;ENST00000320301;ENST00000395430;ENST00000417177;ENST00000437009;ENST00000373955	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.43688	0.94;0.94;0.94;0.94;0.94;0.94;2.23;0.94;0.94;0.94;0.94;0.94;0.94;0.94	5.17	5.17	0.71159	Cadherin (3);Cadherin-like (1);	.	.	.	.	T	0.69762	0.3147	M	0.84948	2.725	0.58432	D	0.999993	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.89917	1.0;0.999;0.999;0.999;0.998;0.999;1.0;0.997;0.998;0.998;0.997;0.997;0.998;0.997;1.0	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.87578	0.998;0.988;0.973;0.98;0.971;0.988;0.998;0.964;0.98;0.988;0.928;0.964;0.978;0.928;0.988	T	0.75671	-0.3237	9	0.87932	D	0	.	18.2588	0.90026	0.0:0.0:1.0:0.0	.	357;379;379;384;379;342;379;379;379;379;379;384;379;357;379	A2A3E8;E7EMG4;A2A3E7;C9JIG1;E7EM53;E7EMG0;A2A3E6;A2A3E3;C6ZEF5;A2A3E2;C6ZEF7;C9J4F3;Q96QU1-3;A2A3D8;Q96QU1	.;.;.;.;.;.;.;.;.;.;.;.;.;.;PCD15_HUMAN	D	379;384;379;379;379;379;379;342;379;357;357;379;379;384;379;379	ENSP00000363076:A379D;ENSP00000410304:A384D;ENSP00000378826:A379D;ENSP00000378832:A379D;ENSP00000378833:A379D;ENSP00000378827:A379D;ENSP00000378820:A342D;ENSP00000354950:A379D;ENSP00000378821:A357D;ENSP00000363068:A357D;ENSP00000322604:A379D;ENSP00000378818:A379D;ENSP00000412628:A379D;ENSP00000363066:A379D	ENSP00000322604:A379D	A	-	2	0	PCDH15	55625618	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	9.828000	0.99408	2.426000	0.82243	0.591000	0.81541	GCC		0.383	PCDH15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000048121.2	NM_033056		21	36	1	0	6.44725e-10	1	6.8705e-10	21	36					T	55955612	G	T	55955612	3	4	435	1	0	0	0	0	1	0	0	0	11511	1203	42	5	6467	5	PCDH15	10	55955612	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	62943	55955612	79579135	4689	25614											
ZWINT	11130	broad.mit.edu	37	chr10	58119553	58119553	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaattttgatggcctctacGtgctccctgtaggtggcctt	5	14	10	12	1	1	1	0	1	1	0	2	1	2	1	4	3	2	2	4	3	3	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:58119553G>A	ENST00000373944.3	-	4	356	c.318C>T	c.(316-318)caC>caT	p.H106H	ZWINT_ENST00000395405.1_Silent_p.H106H|ZWINT_ENST00000318387.2_5'Flank|ZWINT_ENST00000460654.1_5'Flank|ZWINT_ENST00000361148.6_Silent_p.H106H			O95229	ZWINT_HUMAN	ZW10 interacting kinetochore protein	106	Interaction with NDC80 and ZW10.				establishment of localization in cell (GO:0051649)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic sister chromatid segregation (GO:0000070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|kinetochore (GO:0000776)|nucleus (GO:0005634)	protein N-terminus binding (GO:0047485)			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)	20						TGGCCTCTACGTGCTCCCTGT	0.542																																						ENST00000373944.3																			0				NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)	20						c.(316-318)caC>caT		ZW10 interacting kinetochore protein							112	101	105					10																	58119553		2203	4300	6503	SO:0001819	synonymous_variant	0				cell division|establishment of localization in cell|mitotic cell cycle checkpoint|mitotic prometaphase|mitotic sister chromatid segregation|phosphatidylinositol-mediated signaling|spindle organization	condensed chromosome kinetochore|cytosol|nucleus	protein N-terminus binding	g.chr10:58119553G>A	AF067656	CCDS7249.1, CCDS31205.1	10q21-q22	2013-05-01	2013-05-01		ENSG00000122952	ENSG00000122952			13195	protein-coding gene	gene with protein product		609177	"ZW10 interactor"				Standard	XM_005269463		Approved	KNTC2AP	uc001jka.1	O95229	OTTHUMG00000018261	ENST00000373944.3:c.318C>T	10.37:g.58119553G>A						ZWINT_ENST00000395405.1_Silent_p.H106H|ZWINT_ENST00000361148.6_Silent_p.H106H	p.H106H			O95229	ZWINT_HUMAN			4	356	-			106			Interaction with NDC80 and ZW10.		A6NNV6|Q0D2I3|Q9BWD0	Silent	SNP	ENST00000373944.3	37	c.318C>T	CCDS7249.1																																																																																				0.542	ZWINT-009	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048132.1			26	43	0	0	0	1	0	26	43					A	58119553	G	A	58119553	2	1	435	1	0	0	0	0	0	0	0	1	18246	1136	40	1		1	ZWINT	10	58119553	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	2163941	58119553	77415194	4690	25615											
ZWINT	11130	broad.mit.edu	37	chr10	58119813	58119813	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagccaaggggtcgagaccCttagcagtgtcctcctgagc	9	7	13	12	1	0	2	0	1	0	1	3	4	2	2	4	2	3	1	4	2	3	1	rs372154961		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:58119813C>A	ENST00000373944.3	-	3	260	c.222G>T	c.(220-222)aaG>aaT	p.K74N	ZWINT_ENST00000395405.1_Missense_Mutation_p.K74N|ZWINT_ENST00000318387.2_5'Flank|ZWINT_ENST00000460654.1_5'Flank|ZWINT_ENST00000361148.6_Missense_Mutation_p.K74N			O95229	ZWINT_HUMAN	ZW10 interacting kinetochore protein	74					establishment of localization in cell (GO:0051649)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic sister chromatid segregation (GO:0000070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|kinetochore (GO:0000776)|nucleus (GO:0005634)	protein N-terminus binding (GO:0047485)			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)	20						GGTCGAGACCCTTAGCAGTGT	0.552																																						ENST00000373944.3																			0				NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)	20						c.(220-222)aaG>aaT		ZW10 interacting kinetochore protein							62	61	62					10																	58119813		2203	4300	6503	SO:0001583	missense	0				cell division|establishment of localization in cell|mitotic cell cycle checkpoint|mitotic prometaphase|mitotic sister chromatid segregation|phosphatidylinositol-mediated signaling|spindle organization	condensed chromosome kinetochore|cytosol|nucleus	protein N-terminus binding	g.chr10:58119813C>A	AF067656	CCDS7249.1, CCDS31205.1	10q21-q22	2013-05-01	2013-05-01		ENSG00000122952	ENSG00000122952			13195	protein-coding gene	gene with protein product		609177	"ZW10 interactor"				Standard	XM_005269463		Approved	KNTC2AP	uc001jka.1	O95229	OTTHUMG00000018261	ENST00000373944.3:c.222G>T	10.37:g.58119813C>A	ENSP00000363055:p.Lys74Asn					ZWINT_ENST00000395405.1_Missense_Mutation_p.K74N|ZWINT_ENST00000361148.6_Missense_Mutation_p.K74N	p.K74N			O95229	ZWINT_HUMAN			3	260	-			74					A6NNV6|Q0D2I3|Q9BWD0	Missense_Mutation	SNP	ENST00000373944.3	37	c.222G>T	CCDS7249.1	.	.	.	.	.	.	.	.	.	.	C	6.372	0.436812	0.12104	.	.	ENSG00000122952	ENST00000373944;ENST00000395405;ENST00000361148	T;T;T	0.46819	0.86;0.86;0.86	3.58	2.68	0.31781	.	0.163302	0.29314	N	0.012502	T	0.24624	0.0597	N	0.08118	0	0.09310	N	1	B;B	0.22146	0.065;0.065	B;B	0.19946	0.027;0.027	T	0.17379	-1.0371	10	0.62326	D	0.03	-6.0786	6.8929	0.24241	0.0:0.8733:0.0:0.1267	.	74;74	A6NNV6;O95229	.;ZWINT_HUMAN	N	74	ENSP00000363055:K74N;ENSP00000378801:K74N;ENSP00000354921:K74N	ENSP00000354921:K74N	K	-	3	2	ZWINT	57789819	0.096000	0.21769	0.113000	0.21522	0.099000	0.18886	0.278000	0.18753	1.094000	0.41399	0.644000	0.83932	AAG		0.552	ZWINT-009	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048132.1			19	39	1	0	2.89027e-11	1	3.10618e-11	19	39					A	58119813	C	A	58119813	3	1	435	1	0	0	0	0	1	0	0	0	18246	680	24	5	635	5	ZWINT	10	58119813	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	260	58119813	77414934	4691	25616											
SLC16A9	220963	broad.mit.edu	37	chr10	61412650	61412650	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ataaaacctcccagcaggacGcagaagccactaaaataaaa	20	4	6	11	1	0	1	0	0	0	1	1	2	1	2	3	1	3	2	3	1	7	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:61412650G>A	ENST00000395348.3	-	6	2046	c.1410C>T	c.(1408-1410)tgC>tgT	p.C470C	SLC16A9_ENST00000395347.1_Silent_p.C470C	NM_194298.2	NP_919274.1	Q7RTY1	MOT9_HUMAN	solute carrier family 16, member 9	470					urate metabolic process (GO:0046415)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	symporter activity (GO:0015293)			kidney(3)|large_intestine(5)|lung(5)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	23						CCAGCAGGACGCAGAAGCCAC	0.438																																						ENST00000395348.3																			0				kidney(3)|large_intestine(5)|lung(5)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	23						c.(1408-1410)tgC>tgT		solute carrier family 16, member 9							65	72	69					10																	61412650		2203	4300	6503	SO:0001819	synonymous_variant	220963				urate metabolic process	integral to membrane|plasma membrane	symporter activity	g.chr10:61412650G>A	AK125791	CCDS7256.1	10q21.3	2013-07-18	2013-07-18	2004-01-21	ENSG00000165449	ENSG00000165449		"Solute carriers"	23520	protein-coding gene	gene with protein product	"monocarboxylic acid transporter 9"	614242	"chromosome 10 open reading frame 36", "solute carrier family 16 (monocarboxylic acid transporters), member 9", "solute carrier family 16, member 9 (monocarboxylic acid transporter 9)"	C10orf36			Standard	NM_194298		Approved	FLJ43803, MCT9	uc010qig.1	Q7RTY1	OTTHUMG00000018283	ENST00000395348.3:c.1410C>T	10.37:g.61412650G>A						SLC16A9_ENST00000395347.1_Silent_p.C470C	p.C470C	NM_194298.2	NP_919274.1	Q7RTY1	MOT9_HUMAN			6	2046	-			470					Q6ZMI2|Q9UFH8	Silent	SNP	ENST00000395348.3	37	c.1410C>T	CCDS7256.1																																																																																				0.438	SLC16A9-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048174.2	NM_194298		22	33	0	0	0	1	0	22	33					A	61412650	G	A	61412650	2	1	435	1	0	0	0	0	0	0	0	1	14415	1079	38	1		1	SLC16A9	10	61412650	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	3292837	61412650	74122097	4692	25617											
ANK3	288	broad.mit.edu	37	chr10	61829572	61829572	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtgccttcctgacactctccGctggtcgggatgctggggtt	3	12	14	12	2	1	1	0	1	1	0	4	2	2	2	3	4	2	3	3	4	0	2	rs141012790		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:61829572G>A	ENST00000280772.2	-	37	11258	c.11067C>T	c.(11065-11067)agC>agT	p.S3689S	ANK3_ENST00000503366.1_Intron|ANK3_ENST00000373827.2_Intron|ANK3_ENST00000355288.2_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	3689					axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization (GO:0045184)|Golgi to plasma membrane protein transport (GO:0043001)|maintenance of protein location in plasma membrane (GO:0072660)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|neuromuscular junction development (GO:0007528)|neuronal action potential (GO:0019228)|plasma membrane organization (GO:0007009)|positive regulation of cell communication by electrical coupling (GO:0010650)|positive regulation of gene expression (GO:0010628)|positive regulation of homotypic cell-cell adhesion (GO:0034112)|positive regulation of membrane depolarization during cardiac muscle cell action potential (GO:1900827)|positive regulation of membrane potential (GO:0045838)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein localization to plasma membrane (GO:0072659)|protein targeting to plasma membrane (GO:0072661)|regulation of potassium ion transport (GO:0043266)|signal transduction (GO:0007165)	axon initial segment (GO:0043194)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|costamere (GO:0043034)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|lysosome (GO:0005764)|neuromuscular junction (GO:0031594)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|T-tubule (GO:0030315)|Z disc (GO:0030018)	cadherin binding (GO:0045296)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						GACACTCTCCGCTGGTCGGGA	0.532													G|||	1	0.000199681	0	0	5008	,	,		16183	0		0.001	False		,,,				2504	0					ENST00000280772.1																			0				NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						c.(11065-11067)agC>agT		ankyrin 3, node of Ranvier (ankyrin G)		G	,,,	2,4404	4.2+/-10.8	0,2,2201	124	132	129		,,,11067	3.5	1	10	dbSNP_134	129	0,8600		0,0,4300	no	intron,intron,intron,coding-synonymous	ANK3	NM_001149.3,NM_001204403.1,NM_001204404.1,NM_020987.3	,,,	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	,,,	,,,3689/4378	61829572	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	288				establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding	g.chr10:61829572G>A	U13616	CCDS7258.1, CCDS7259.1, CCDS55711.1, CCDS55712.1	10q21	2013-01-10			ENSG00000151150	ENSG00000151150		"Ankyrin repeat domain containing"	494	protein-coding gene	gene with protein product	"ankyrin-3, node of Ranvier", "ankyrin-G"	600465				7665168	Standard	NM_020987		Approved		uc001jky.3	Q12955	OTTHUMG00000018288	ENST00000280772.2:c.11067C>T	10.37:g.61829572G>A						ANK3_ENST00000373827.2_Intron|ANK3_ENST00000503366.1_Intron|ANK3_ENST00000355288.2_Intron	p.S3689S	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN			37	11258	-			3689					B1AQT2|B4DIL1|E9PE32|Q13484|Q5CZH9|Q5VXD5|Q7Z3G4|Q9H0P5	Silent	SNP	ENST00000280772.2	37	c.11067C>T	CCDS7258.1																																																																																				0.532	ANK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048201.4	NM_020987		4	79	0	0	0	1	0	4	79					A	61829572	G	A	61829572	2	1	435	1	0	0	0	0	0	0	0	1	622	1078	38	1		1	ANK3	10	61829572	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	416922	61829572	73705175	4693	25618											
ANK3	288	broad.mit.edu	37	chr10	61844449	61844449	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atctgtcatgcagaaacatcGcaaggaagattctacgggat	14	9	10	8	2	3	2	1	0	2	2	4	4	3	4	0	2	3	2	0	2	4	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:61844449G>A	ENST00000280772.2	-	32	4176	c.3985C>T	c.(3985-3987)Cga>Tga	p.R1329*	ANK3_ENST00000503366.1_Nonsense_Mutation_p.R1330*|Y_RNA_ENST00000365320.1_RNA|ANK3_ENST00000373827.2_Nonsense_Mutation_p.R1323*|ANK3_ENST00000355288.2_Nonsense_Mutation_p.R463*	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	1329	UPA domain. {ECO:0000250}.				axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization (GO:0045184)|Golgi to plasma membrane protein transport (GO:0043001)|maintenance of protein location in plasma membrane (GO:0072660)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|neuromuscular junction development (GO:0007528)|neuronal action potential (GO:0019228)|plasma membrane organization (GO:0007009)|positive regulation of cell communication by electrical coupling (GO:0010650)|positive regulation of gene expression (GO:0010628)|positive regulation of homotypic cell-cell adhesion (GO:0034112)|positive regulation of membrane depolarization during cardiac muscle cell action potential (GO:1900827)|positive regulation of membrane potential (GO:0045838)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein localization to plasma membrane (GO:0072659)|protein targeting to plasma membrane (GO:0072661)|regulation of potassium ion transport (GO:0043266)|signal transduction (GO:0007165)	axon initial segment (GO:0043194)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|costamere (GO:0043034)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|lysosome (GO:0005764)|neuromuscular junction (GO:0031594)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|T-tubule (GO:0030315)|Z disc (GO:0030018)	cadherin binding (GO:0045296)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)	p.R463*(1)|p.R964*(1)|p.R1329*(1)		NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						CAGAAACATCGCAAGGAAGAT	0.403																																						ENST00000280772.1																			3	Substitution - Nonsense(3)	p.R463*(1)|p.R964*(1)|p.R1329*(1)	endometrium(3)	NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						c.(3985-3987)Cga>Tga		ankyrin 3, node of Ranvier (ankyrin G)							141	136	138					10																	61844449		2203	4300	6503	SO:0001587	stop_gained	288				establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding	g.chr10:61844449G>A	U13616	CCDS7258.1, CCDS7259.1, CCDS55711.1, CCDS55712.1	10q21	2013-01-10			ENSG00000151150	ENSG00000151150		"Ankyrin repeat domain containing"	494	protein-coding gene	gene with protein product	"ankyrin-3, node of Ranvier", "ankyrin-G"	600465				7665168	Standard	NM_020987		Approved		uc001jky.3	Q12955	OTTHUMG00000018288	ENST00000280772.2:c.3985C>T	10.37:g.61844449G>A	ENSP00000280772:p.Arg1329*					ANK3_ENST00000373827.2_Nonsense_Mutation_p.R1323*|ANK3_ENST00000503366.1_Nonsense_Mutation_p.R1330*|ANK3_ENST00000355288.2_Nonsense_Mutation_p.R463*	p.R1329*	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN			32	4176	-			1329					B1AQT2|B4DIL1|E9PE32|Q13484|Q5CZH9|Q5VXD5|Q7Z3G4|Q9H0P5	Nonsense_Mutation	SNP	ENST00000280772.2	37	c.3985C>T	CCDS7258.1	.	.	.	.	.	.	.	.	.	.	G	44	11.122221	0.99518	.	.	ENSG00000151150	ENST00000280772;ENST00000373827;ENST00000355288;ENST00000423532;ENST00000503366;ENST00000395299;ENST00000373817;ENST00000395293;ENST00000395304;ENST00000544789;ENST00000536348	.	.	.	6.04	0.405	0.16361	.	0.000000	0.36134	N	0.002771	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	16.9656	0.86285	0.0:0.0:0.4133:0.5867	.	.	.	.	X	1329;1323;463;463;1330;1309;564;964;964;462;862	.	ENSP00000280772:R1329X	R	-	1	2	ANK3	61514455	1.000000	0.71417	0.847000	0.33407	0.761000	0.43186	2.366000	0.44204	-0.179000	0.10654	-0.268000	0.10319	CGA		0.403	ANK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048201.4	NM_020987		60	73	0	0	0	1	0	60	73					A	61844449	G	A	61844449	4	1	435	1	0	0	0	0	0	1	0	0	622	1095	38	1	9509	1	ANK3	10	61844449	Nonsense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	14877	61844449	73690298	4694	25619											
ANK3	288	broad.mit.edu	37	chr10	61868695	61868695	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ttatgtctctttaccaaacgGcaggtgattcgagtgggggc	8	12	13	8	2	1	1	0	1	1	0	3	2	1	1	1	4	2	1	1	4	3	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:61868695G>A	ENST00000280772.2	-	27	3257	c.3066C>T	c.(3064-3066)tgC>tgT	p.C1022C	ANK3_ENST00000503366.1_Silent_p.C1023C|ANK3_ENST00000373827.2_Silent_p.C1016C|ANK3_ENST00000355288.2_Silent_p.C156C	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	1022	ZU5 1. {ECO:0000255|PROSITE- ProRule:PRU00485}.				axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization (GO:0045184)|Golgi to plasma membrane protein transport (GO:0043001)|maintenance of protein location in plasma membrane (GO:0072660)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|neuromuscular junction development (GO:0007528)|neuronal action potential (GO:0019228)|plasma membrane organization (GO:0007009)|positive regulation of cell communication by electrical coupling (GO:0010650)|positive regulation of gene expression (GO:0010628)|positive regulation of homotypic cell-cell adhesion (GO:0034112)|positive regulation of membrane depolarization during cardiac muscle cell action potential (GO:1900827)|positive regulation of membrane potential (GO:0045838)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein localization to plasma membrane (GO:0072659)|protein targeting to plasma membrane (GO:0072661)|regulation of potassium ion transport (GO:0043266)|signal transduction (GO:0007165)	axon initial segment (GO:0043194)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|costamere (GO:0043034)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|lysosome (GO:0005764)|neuromuscular junction (GO:0031594)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|T-tubule (GO:0030315)|Z disc (GO:0030018)	cadherin binding (GO:0045296)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						TTACCAAACGGCAGGTGATTC	0.567																																						ENST00000280772.1																			0				NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						c.(3064-3066)tgC>tgT		ankyrin 3, node of Ranvier (ankyrin G)							71	76	74					10																	61868695		2203	4300	6503	SO:0001819	synonymous_variant	288				establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding	g.chr10:61868695G>A	U13616	CCDS7258.1, CCDS7259.1, CCDS55711.1, CCDS55712.1	10q21	2013-01-10			ENSG00000151150	ENSG00000151150		"Ankyrin repeat domain containing"	494	protein-coding gene	gene with protein product	"ankyrin-3, node of Ranvier", "ankyrin-G"	600465				7665168	Standard	NM_020987		Approved		uc001jky.3	Q12955	OTTHUMG00000018288	ENST00000280772.2:c.3066C>T	10.37:g.61868695G>A						ANK3_ENST00000373827.2_Silent_p.C1016C|ANK3_ENST00000503366.1_Silent_p.C1023C|ANK3_ENST00000355288.2_Silent_p.C156C	p.C1022C	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN			27	3257	-			1022			ZU5.		B1AQT2|B4DIL1|E9PE32|Q13484|Q5CZH9|Q5VXD5|Q7Z3G4|Q9H0P5	Silent	SNP	ENST00000280772.2	37	c.3066C>T	CCDS7258.1	.	.	.	.	.	.	.	.	.	.	G	6.933	0.541801	0.13250	.	.	ENSG00000151150	ENST00000467420	.	.	.	6.04	6.04	0.98038	.	.	.	.	.	T	0.77336	0.4115	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.73886	-0.3841	4	.	.	.	.	20.5948	0.99439	0.0:0.0:1.0:0.0	.	.	.	.	V	47	.	.	A	-	2	0	ANK3	61538701	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.122000	0.64697	2.873000	0.98535	0.563000	0.77884	GCC		0.567	ANK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048201.4	NM_020987		14	26	0	0	0	1	0	14	26					A	61868695	G	A	61868695	2	1	435	1	0	0	0	0	0	0	0	1	622	1195	42	3		3	ANK3	10	61868695	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	24246	61868695	73666052	4695	25620											
CDK1	983	broad.mit.edu	37	chr10	62544621	62544621	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtcatccaaatatagtcaggTatgttgtaatatctgaatgt	13	15	8	5	0	3	1	2	1	1	0	4	1	4	1	1	1	0	3	1	1	7	6			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:62544621T>C	ENST00000395284.3	+	3	336		c.e3+2		CDK1_ENST00000373809.2_Splice_Site|CDK1_ENST00000448257.2_Splice_Site|CDK1_ENST00000316629.4_Splice_Site	NM_001786.4	NP_001777.1	P06493	CDK1_HUMAN	cyclin-dependent kinase 1						activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|cell aging (GO:0007569)|cell migration (GO:0016477)|cellular response to hydrogen peroxide (GO:0070301)|centrosome cycle (GO:0007098)|chromosome condensation (GO:0030261)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell differentiation (GO:0030855)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|MAPK cascade (GO:0000165)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|mitotic G2 DNA damage checkpoint (GO:0007095)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope disassembly (GO:0007077)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ regeneration (GO:0031100)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of DNA replication (GO:0045740)|positive regulation of gene expression (GO:0010628)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of protein import into nucleus, translocation (GO:0033160)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|pronuclear fusion (GO:0007344)|protein complex assembly (GO:0006461)|protein localization to kinetochore (GO:0034501)|Ras protein signal transduction (GO:0007265)|regulation of embryonic development (GO:0045995)|regulation of Schwann cell differentiation (GO:0014038)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|response to activity (GO:0014823)|response to amine (GO:0014075)|response to axon injury (GO:0048678)|response to cadmium ion (GO:0046686)|response to copper ion (GO:0046688)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to organic cyclic compound (GO:0014070)|response to toxic substance (GO:0009636)|small GTPase mediated signal transduction (GO:0007264)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|ventricular cardiac muscle cell development (GO:0055015)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|midbody (GO:0030496)|mitochondrion (GO:0005739)|mitotic spindle (GO:0072686)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|histone kinase activity (GO:0035173)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)			ovary(1)	1						TATAGTCAGGTATGTTGTAAT	0.338																																						ENST00000448257.2																			0				ovary(1)	1						c.e3+2		cyclin-dependent kinase 1							84	85	84					10																	62544621		2203	4300	6503	SO:0001630	splice_region_variant	983				activation of MAPK activity|activation of MAPKK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|axon guidance|cell division|epidermal growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway|mitosis|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein localization to kinetochore|Ras protein signal transduction|regulation of transcription involved in G1/S phase of mitotic cell cycle|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|midbody|nucleoplasm|spindle microtubule	ATP binding|cyclin-dependent protein kinase activity|RNA polymerase II carboxy-terminal domain kinase activity	g.chr10:62544621T>C	BC014563	CCDS7260.1, CCDS44408.1	10q21.2	2011-11-08	2009-12-16	2009-12-16	ENSG00000170312	ENSG00000170312		"Cyclin-dependent kinases"	1722	protein-coding gene	gene with protein product		116940	"cell division cycle 2, G1 to S and G2 to M"	CDC2		3553962, 19884882	Standard	NM_001786		Approved	CDC28A	uc001jld.3	P06493	OTTHUMG00000018290	ENST00000395284.3:c.194+2T>C	10.37:g.62544621T>C						CDK1_ENST00000316629.4_Splice_Site|CDK1_ENST00000395284.3_Splice_Site|CDK1_ENST00000373809.2_Splice_Site				P06493	CDK1_HUMAN			3	395	+								A8K7C4|C9J497|O60764	Splice_Site	SNP	ENST00000395284.3	37		CCDS44408.1	.	.	.	.	.	.	.	.	.	.	T	19.60	3.858025	0.71834	.	.	ENSG00000170312	ENST00000519078;ENST00000395284;ENST00000316629;ENST00000448257;ENST00000373809	.	.	.	5.69	5.69	0.88448	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.2484	0.82467	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	CDK1	62214627	1.000000	0.71417	1.000000	0.80357	0.807000	0.45602	7.525000	0.81892	2.291000	0.77112	0.533000	0.62120	.		0.338	CDK1-007	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048211.2	NM_001786	Intron	21	33	0	0	0	1	0	21	33					C	62544621	T	C	62544621	5	2	435	1	0	0	0	0	0	0	1	0	3124	1652	57	4	202	4	CDK1	10	62544621	Splice_Site	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	675926	62544621	72990126	4696	25621											
RHOBTB1	9886	broad.mit.edu	37	chr10	62648833	62648833	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggattgcattgtcaaacacaTccttgataccaaactggtca	13	11	7	10	0	2	1	2	1	0	0	3	2	3	2	2	2	4	1	2	2	3	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:62648833T>C	ENST00000337910.5	-	6	930	c.593A>G	c.(592-594)gAt>gGt	p.D198G	RHOBTB1_ENST00000357917.4_Missense_Mutation_p.D198G	NM_001242359.1|NM_014836.4	NP_001229288.1|NP_055651.1	O94844	RHBT1_HUMAN	Rho-related BTB domain containing 1	198	Rho-like.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)			endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23	Prostate(12;0.0112)					GTCAAACACATCCTTGATACC	0.468																																						ENST00000337910.5																			0				endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23						c.(592-594)gAt>gGt		Rho-related BTB domain containing 1							165	167	166					10																	62648833		2203	4300	6503	SO:0001583	missense	9886				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding	g.chr10:62648833T>C	AB018283	CCDS7261.1	10q22.1	2013-01-08			ENSG00000072422	ENSG00000072422		"BTB/POZ domain containing"	18738	protein-coding gene	gene with protein product		607351				11222756	Standard	NM_014836		Approved	KIAA0740	uc001jlh.3	O94844	OTTHUMG00000018292	ENST00000337910.5:c.593A>G	10.37:g.62648833T>C	ENSP00000338671:p.Asp198Gly					RHOBTB1_ENST00000357917.4_Missense_Mutation_p.D198G	p.D198G	NM_001242359.1|NM_014836.4	NP_001229288.1|NP_055651.1	O94844	RHBT1_HUMAN			6	930	-	Prostate(12;0.0112)		198			Rho-like.			Missense_Mutation	SNP	ENST00000337910.5	37	c.593A>G	CCDS7261.1	.	.	.	.	.	.	.	.	.	.	T	23.4	4.413910	0.83449	.	.	ENSG00000072422	ENST00000357917;ENST00000337910	T;T	0.24151	1.87;1.87	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	T	0.49236	0.1545	M	0.72479	2.2	0.80722	D	1	D	0.60575	0.988	D	0.63113	0.911	T	0.51364	-0.8715	10	0.72032	D	0.01	.	16.1026	0.81194	0.0:0.0:0.0:1.0	.	198	O94844	RHBT1_HUMAN	G	198	ENSP00000350595:D198G;ENSP00000338671:D198G	ENSP00000338671:D198G	D	-	2	0	RHOBTB1	62318839	1.000000	0.71417	0.994000	0.49952	0.991000	0.79684	7.988000	0.88194	2.198000	0.70561	0.383000	0.25322	GAT		0.468	RHOBTB1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048220.1			63	104	0	0	0	1	0	63	104					C	62648833	T	C	62648833	3	2	435	1	0	0	0	0	1	0	0	0	13333	1435	50	4	1521	4	RHOBTB1	10	62648833	Missense_Mutation	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	104212	62648833	72885914	4697	25622											
TMEM26	219623	broad.mit.edu	37	chr10	63170404	63170404	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaggggccatcttgtatgaaGacgctgattccgatgttcca	10	11	11	9	2	1	3	0	2	1	1	3	4	3	3	3	2	0	3	3	2	3	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:63170404G>T	ENST00000399298.3	-	6	1151	c.783C>A	c.(781-783)gtC>gtA	p.V261V	TMEM26_ENST00000507507.1_5'UTR	NM_178505.6	NP_848600.2	Q6ZUK4	TMM26_HUMAN	transmembrane protein 26	261						integral component of membrane (GO:0016021)				kidney(1)|large_intestine(2)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	18	Prostate(12;0.0112)					CTTGTATGAAGACGCTGATTC	0.498																																						ENST00000399298.3																			0				kidney(1)|large_intestine(2)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	18						c.(781-783)gtC>gtA		transmembrane protein 26							74	77	76					10																	63170404		2105	4235	6340	SO:0001819	synonymous_variant	219623					integral to membrane		g.chr10:63170404G>T	BC042872	CCDS41530.1	10q21.3	2008-10-20			ENSG00000196932	ENSG00000196932			28550	protein-coding gene	gene with protein product						12477932	Standard	NM_178505		Approved	MGC35010, Em:AC068892.1	uc001jlo.2	Q6ZUK4	OTTHUMG00000018293	ENST00000399298.3:c.783C>A	10.37:g.63170404G>T						TMEM26_ENST00000507507.1_5'UTR	p.V261V	NM_178505.6	NP_848600.2	Q6ZUK4	TMM26_HUMAN			6	1151	-	Prostate(12;0.0112)		261					Q6ZVM0|Q8IVN9	Silent	SNP	ENST00000399298.3	37	c.783C>A	CCDS41530.1																																																																																				0.498	TMEM26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359121.1	NM_178505		10	11	1	0	7.48243e-07	1	7.8103e-07	10	11					T	63170404	G	T	63170404	2	4	435	1	0	0	0	0	0	0	0	1	16148	929	33	5		5	TMEM26	10	63170404	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	521571	63170404	72364343	4698	25623											
ARID5B	84159	broad.mit.edu	37	chr10	63661997	63661997	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccaccttgaaggcaaaccaaGaattttgtcccttggcgact	11	10	8	12	1	0	2	0	1	0	1	1	3	1	2	4	2	1	1	4	2	4	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:63661997G>A	ENST00000279873.7	+	2	511	c.101G>A	c.(100-102)aGa>aAa	p.R34K		NM_032199.2	NP_115575.1	Q14865	ARI5B_HUMAN	AT rich interactive domain 5B (MRF1-like)	34					adipose tissue development (GO:0060612)|adrenal gland development (GO:0030325)|cell development (GO:0048468)|face morphogenesis (GO:0060325)|fat cell differentiation (GO:0045444)|fat pad development (GO:0060613)|female gonad development (GO:0008585)|fibroblast migration (GO:0010761)|kidney development (GO:0001822)|liver development (GO:0001889)|male gonad development (GO:0008584)|multicellular organism growth (GO:0035264)|muscle organ morphogenesis (GO:0048644)|negative regulation of transcription, DNA-templated (GO:0045892)|palate development (GO:0060021)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|post-embryonic development (GO:0009791)|skeletal system morphogenesis (GO:0048705)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(2)|endometrium(13)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	Prostate(12;0.016)|all_hematologic(501;0.215)					GGCAAACCAAGAATTTTGTCC	0.502																																						ENST00000279873.7																			0				NS(1)|breast(2)|endometrium(13)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44						c.(100-102)aGa>aAa		AT rich interactive domain 5B (MRF1-like)							75	79	78					10																	63661997		2203	4300	6503	SO:0001583	missense	84159				liver development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent		protein binding|transcription regulatory region DNA binding	g.chr10:63661997G>A	M73837	CCDS31208.1, CCDS58082.1	10q11.22	2013-02-07			ENSG00000150347	ENSG00000150347		"-"	17362	protein-coding gene	gene with protein product		608538				11483573, 11478881	Standard	NM_032199		Approved	FLJ21150, MRF2	uc001jlt.2	Q14865	OTTHUMG00000018298	ENST00000279873.7:c.101G>A	10.37:g.63661997G>A	ENSP00000279873:p.Arg34Lys						p.R34K	NM_032199.2	NP_115575.1	Q14865	ARI5B_HUMAN			2	511	+	Prostate(12;0.016)|all_hematologic(501;0.215)		34					B4DLB3|Q05DG6|Q32Q59|Q5VST4|Q6NZ42|Q7Z3M4|Q8N421|Q9H786	Missense_Mutation	SNP	ENST00000279873.7	37	c.101G>A	CCDS31208.1	.	.	.	.	.	.	.	.	.	.	G	15.78	2.935095	0.52866	.	.	ENSG00000150347	ENST00000279873	T	0.47528	0.84	5.74	5.74	0.90152	.	0.000000	0.85682	D	0.000000	T	0.60327	0.2260	L	0.38175	1.15	0.80722	D	1	D;B	0.61697	0.99;0.002	D;B	0.73380	0.98;0.002	T	0.54417	-0.8297	10	0.34782	T	0.22	-13.582	18.7117	0.91659	0.0:0.0:1.0:0.0	.	34;34	Q14865-3;Q14865	.;ARI5B_HUMAN	K	34	ENSP00000279873:R34K	ENSP00000279873:R34K	R	+	2	0	ARID5B	63332003	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.884000	0.75600	2.712000	0.92718	0.650000	0.86243	AGA		0.502	ARID5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048233.1	XM_084482		14	30	0	0	0	1	0	14	30					A	63661997	G	A	63661997	3	1	435	1	0	0	0	0	1	0	0	0	922	942	33	3	107	3	ARID5B	10	63661997	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	491593	63661997	71872750	4699	25624											
ZNF365	22891	broad.mit.edu	37	chr10	64415277	64415277	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggaaaccacctcatcagcaTccccctggccaactggaagc	11	6	8	16	0	2	0	2	0	0	0	3	2	3	2	5	3	4	1	5	3	3	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:64415277T>C	ENST00000395251.1	+	4	611	c.277T>C	c.(277-279)Tcc>Ccc	p.S93P	AC067751.1_ENST00000579246.1_RNA|ZNF365_ENST00000395249.1_Intron|ZNF365_ENST00000410046.3_Intron	NM_199452.3	NP_955524	Q70YC4	TALAN_HUMAN	zinc finger protein 365	93										breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27	Prostate(12;0.0297)|all_hematologic(501;0.228)					CTCATCAGCATCCCCCTGGCC	0.542																																						ENST00000395251.1																			0				breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						c.(277-279)Tcc>Ccc		zinc finger protein 365							146	114	125					10																	64415277		2203	4300	6503	SO:0001583	missense	22891							g.chr10:64415277T>C	AB020651	CCDS7264.1, CCDS7265.1, CCDS31209.1, CCDS41531.1	10q21.2	2008-10-28			ENSG00000138311	ENSG00000138311		"Zinc fingers, C2H2-type"	18194	protein-coding gene	gene with protein product	"Talanin"	607818				10048485, 12740763	Standard	NM_199450		Approved	KIAA0844, UAN	uc001jmc.2	Q70YC4	OTTHUMG00000018302	ENST00000395251.1:c.277T>C	10.37:g.64415277T>C	ENSP00000378672:p.Ser93Pro					ZNF365_ENST00000395249.1_Intron|ZNF365_ENST00000410046.3_Intron	p.S93P	NM_199452.3	NP_955524.3	Q70YC4	TALAN_HUMAN			4	611	+	Prostate(12;0.0297)|all_hematologic(501;0.228)		93						Missense_Mutation	SNP	ENST00000395251.1	37	c.277T>C	CCDS7265.1	.	.	.	.	.	.	.	.	.	.	T	11.44	1.639316	0.29157	.	.	ENSG00000138311	ENST00000395251	T	0.54866	0.55	4.48	1.81	0.25067	.	.	.	.	.	T	0.29783	0.0744	N	0.08118	0	0.09310	N	0.999992	B	0.02656	0.0	B	0.04013	0.001	T	0.21999	-1.0229	9	0.87932	D	0	.	5.922	0.19088	0.0:0.2749:0.0:0.7251	.	93	Q70YC4	TALAN_HUMAN	P	93	ENSP00000378672:S93P	ENSP00000378672:S93P	S	+	1	0	ZNF365	64085283	0.000000	0.05858	0.005000	0.12908	0.134000	0.20937	-0.589000	0.05767	0.098000	0.17522	0.533000	0.62120	TCC		0.542	ZNF365-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000277036.1	NM_014951		24	24	0	0	0	1	0	24	24					C	64415277	T	C	64415277	3	2	435	1	0	0	0	0	1	0	0	0	17866	1435	50	4	1765	4	ZNF365	10	64415277	Missense_Mutation	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	753280	64415277	71119470	4700	25625											
JMJD1C	221037	broad.mit.edu	37	chr10	64952885	64952885	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atgcacagagaaattttattActgtgattaagaacattctg	15	14	7	5	0	1	3	0	1	1	2	1	4	1	3	0	0	3	1	0	0	5	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:64952885A>G	ENST00000399262.2	-	16	6107	c.5889T>C	c.(5887-5889)agT>agC	p.S1963S	JMJD1C_ENST00000542921.1_Silent_p.S1781S|JMJD1C_ENST00000402544.1_Intron|JMJD1C_ENST00000399251.1_3'UTR	NM_032776.1	NP_116165.1	Q15652	JHD2C_HUMAN	jumonji domain containing 1C	1963					blood coagulation (GO:0007596)|chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	intracellular (GO:0005622)|nucleoplasm (GO:0005654)	dioxygenase activity (GO:0051213)|metal ion binding (GO:0046872)|thyroid hormone receptor binding (GO:0046966)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	77	Prostate(12;0.0119)|all_hematologic(501;0.191)					AAATTTTATTACTGTGATTAA	0.353																																						ENST00000399262.2																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	77						c.(5887-5889)agT>agC		jumonji domain containing 1C							73	65	68					10																	64952885		1854	4099	5953	SO:0001819	synonymous_variant	221037				blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding	g.chr10:64952885A>G	L40411	CCDS41532.1, CCDS60538.1	10q22.1	2011-05-25	2004-03-31	2004-04-01	ENSG00000171988	ENSG00000171988			12313	protein-coding gene	gene with protein product		604503	"thyroid hormone receptor interactor 8"	TRIP8		7776974	Standard	XM_005269624		Approved	DKFZp761F0118, KIAA1380, FLJ14374	uc001jmn.3	Q15652	OTTHUMG00000018311	ENST00000399262.2:c.5889T>C	10.37:g.64952885A>G						JMJD1C_ENST00000542921.1_Silent_p.S1781S|JMJD1C_ENST00000402544.1_Intron|JMJD1C_ENST00000399251.1_3'UTR	p.S1963S	NM_032776.1	NP_116165.1	Q15652	JHD2C_HUMAN			16	6107	-	Prostate(12;0.0119)|all_hematologic(501;0.191)		1963					A0T124|Q5SQZ8|Q5SQZ9|Q5SR00|Q7Z3E7|Q8N3U0|Q96KB9|Q9P2G7	Silent	SNP	ENST00000399262.2	37	c.5889T>C	CCDS41532.1	.	.	.	.	.	.	.	.	.	.	A	7.171	0.587673	0.13812	.	.	ENSG00000171988	ENST00000327520	.	.	.	5.67	3.32	0.38043	.	.	.	.	.	T	0.57272	0.2042	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.49908	-0.8889	4	.	.	.	-1.8043	7.5151	0.27596	0.8036:0.0:0.0695:0.1269	.	.	.	.	A	510	.	.	V	-	2	0	JMJD1C	64622891	1.000000	0.71417	1.000000	0.80357	0.748000	0.42578	3.725000	0.54970	0.416000	0.25844	-0.336000	0.08194	GTA		0.353	JMJD1C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048249.2	NM_004241		20	34	0	0	0	1	0	20	34					G	64952885	A	G	64952885	2	3	435	1	0	0	0	0	0	0	0	1	7950	388	14	4		4	JMJD1C	10	64952885	Silent	SNP	A	TCGA-XK-AAIW-01A-11D-A41K-08	537608	64952885	70581862	4701	25626											
JMJD1C	221037	broad.mit.edu	37	chr10	64973446	64973446	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgttgttgctggtgtgctagCgctaagtggctcaagctgct	5	14	14	8	1	1	0	1	0	0	0	1	0	1	0	0	2	5	8	0	2	3	4	rs548904134		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:64973446C>T	ENST00000399262.2	-	8	2699	c.2481G>A	c.(2479-2481)gcG>gcA	p.A827A	JMJD1C_ENST00000489372.2_5'Flank|JMJD1C_ENST00000542921.1_Silent_p.A645A|JMJD1C_ENST00000402544.1_Silent_p.A608A|JMJD1C_ENST00000399251.1_Silent_p.A608A	NM_032776.1	NP_116165.1	Q15652	JHD2C_HUMAN	jumonji domain containing 1C	827					blood coagulation (GO:0007596)|chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	intracellular (GO:0005622)|nucleoplasm (GO:0005654)	dioxygenase activity (GO:0051213)|metal ion binding (GO:0046872)|thyroid hormone receptor binding (GO:0046966)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	77	Prostate(12;0.0119)|all_hematologic(501;0.191)					GGTGTGCTAGCGCTAAGTGGC	0.498													C|||	1	0.000199681	8e-04	0	5008	,	,		22003	0		0	False		,,,				2504	0					ENST00000399262.2																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	77						c.(2479-2481)gcG>gcA		jumonji domain containing 1C							79	79	79					10																	64973446		2130	4249	6379	SO:0001819	synonymous_variant	221037				blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding	g.chr10:64973446C>T	L40411	CCDS41532.1, CCDS60538.1	10q22.1	2011-05-25	2004-03-31	2004-04-01	ENSG00000171988	ENSG00000171988			12313	protein-coding gene	gene with protein product		604503	"thyroid hormone receptor interactor 8"	TRIP8		7776974	Standard	XM_005269624		Approved	DKFZp761F0118, KIAA1380, FLJ14374	uc001jmn.3	Q15652	OTTHUMG00000018311	ENST00000399262.2:c.2481G>A	10.37:g.64973446C>T						JMJD1C_ENST00000542921.1_Silent_p.A645A|JMJD1C_ENST00000402544.1_Silent_p.A608A|JMJD1C_ENST00000399251.1_Silent_p.A608A	p.A827A	NM_032776.1	NP_116165.1	Q15652	JHD2C_HUMAN			8	2699	-	Prostate(12;0.0119)|all_hematologic(501;0.191)		827					A0T124|Q5SQZ8|Q5SQZ9|Q5SR00|Q7Z3E7|Q8N3U0|Q96KB9|Q9P2G7	Silent	SNP	ENST00000399262.2	37	c.2481G>A	CCDS41532.1																																																																																				0.498	JMJD1C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048249.2	NM_004241		10	21	0	0	0	1	0	10	21					T	64973446	C	T	64973446	2	4	435	1	0	0	0	0	0	0	0	1	7950	755	27	1		1	JMJD1C	10	64973446	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	20561	64973446	70561301	4702	25627											
REEP3	221035	broad.mit.edu	37	chr10	65379471	65379471	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cagatgaagaagcagaggggCcatattcagataatgagatg	16	7	13	5	0	1	6	1	2	0	5	1	7	1	6	1	2	1	1	1	2	4	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:65379471C>T	ENST00000373758.4	+	7	805	c.622C>T	c.(622-624)Cca>Tca	p.P208S	REEP3_ENST00000298249.4_Missense_Mutation_p.P193S	NM_001001330.2	NP_001001330.1	Q6NUK4	REEP3_HUMAN	receptor accessory protein 3	208					mitotic nuclear division (GO:0007067)|mitotic nuclear envelope reassembly (GO:0007084)|nuclear envelope organization (GO:0006998)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|microtubule (GO:0005874)				endometrium(1)|large_intestine(2)|lung(3)	6	Prostate(12;0.0119)|all_hematologic(501;0.191)					AGCAGAGGGGCCATATTCAGA	0.413																																						ENST00000373758.4																			0				endometrium(1)|large_intestine(2)|lung(3)	6						c.(622-624)Cca>Tca		receptor accessory protein 3							66	66	66					10																	65379471		1904	4123	6027	SO:0001583	missense	221035					integral to membrane		g.chr10:65379471C>T	BC057832	CCDS44411.1	10q21.3	2011-01-05	2006-02-07	2006-02-07	ENSG00000165476	ENSG00000165476		"Receptor accessory proteins"	23711	protein-coding gene	gene with protein product		609348	"chromosome 10 open reading frame 74"	C10orf74		16271481, 15550249	Standard	NM_001001330		Approved		uc001jmt.3	Q6NUK4	OTTHUMG00000018318	ENST00000373758.4:c.622C>T	10.37:g.65379471C>T	ENSP00000362863:p.Pro208Ser					REEP3_ENST00000298249.4_Missense_Mutation_p.P193S	p.P208S	NM_001001330.2	NP_001001330.1	Q6NUK4	REEP3_HUMAN			7	805	+	Prostate(12;0.0119)|all_hematologic(501;0.191)		208					Q5JQR5|Q5QGT2|Q6PEW8|Q6PJY4	Missense_Mutation	SNP	ENST00000373758.4	37	c.622C>T	CCDS44411.1	.	.	.	.	.	.	.	.	.	.	C	4.753	0.139972	0.09083	.	.	ENSG00000165476	ENST00000373758;ENST00000298249;ENST00000438249	D;D	0.82255	-1.59;-1.59	5.72	2.79	0.32731	.	0.374537	0.30676	N	0.009116	T	0.69842	0.3156	L	0.36672	1.1	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.50491	-0.8822	10	0.14656	T	0.56	.	6.8581	0.24052	0.484:0.435:0.0:0.081	.	208	Q6NUK4	REEP3_HUMAN	S	208;193;210	ENSP00000362863:P208S;ENSP00000298249:P193S	ENSP00000298249:P193S	P	+	1	0	REEP3	65049477	0.834000	0.29399	0.038000	0.18304	0.401000	0.30781	0.465000	0.22004	0.708000	0.31955	0.655000	0.94253	CCA		0.413	REEP3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001001330		4	7	0	0	0	1	0	4	7					T	65379471	C	T	65379471	3	4	435	1	0	0	0	0	1	0	0	0	13206	739	26	3	648	3	REEP3	10	65379471	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	406025	65379471	70155276	4703	25628											
LRRTM3	347731	broad.mit.edu	37	chr10	68687414	68687414	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aatcagtgtcataggacagaCcatgtcctggacctggagct	11	9	11	10	0	2	1	2	0	0	1	3	4	3	4	3	3	1	1	3	3	2	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:68687414C>T	ENST00000361320.4	+	2	1318	c.740C>T	c.(739-741)aCc>aTc	p.T247I	CTNNA3_ENST00000373744.4_Intron|CTNNA3_ENST00000433211.2_Intron	NM_178011.3	NP_821079.3	Q86VH5	LRRT3_HUMAN	leucine rich repeat transmembrane neuronal 3	247					positive regulation of beta-amyloid formation (GO:1902004)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)				breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	41						ATAGGACAGACCATGTCCTGG	0.463																																						ENST00000361320.4																			0				breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	41						c.(739-741)aCc>aTc		leucine rich repeat transmembrane neuronal 3							78	81	80					10																	68687414		2203	4300	6503	SO:0001583	missense	347731					integral to membrane		g.chr10:68687414C>T	BX640611	CCDS7270.1	10q22.1	2007-01-22				ENSG00000198739			19410	protein-coding gene	gene with protein product		610869				12676565	Standard	XR_247527		Approved		uc001jmz.1	Q86VH5		ENST00000361320.4:c.740C>T	10.37:g.68687414C>T	ENSP00000355187:p.Thr247Ile					CTNNA3_ENST00000373744.4_Intron|CTNNA3_ENST00000433211.1_Intron|CTNNA3_ENST00000494580.1_Intron	p.T247I	NM_178011.3	NP_821079.3	Q86VH5	LRRT3_HUMAN			2	1318	+			247					A8K2A3|Q2NKX7|Q6N0A3	Missense_Mutation	SNP	ENST00000361320.4	37	c.740C>T	CCDS7270.1	.	.	.	.	.	.	.	.	.	.	C	15.33	2.801575	0.50315	.	.	ENSG00000198739	ENST00000361320;ENST00000373722	T	0.57907	0.37	5.76	5.76	0.90799	.	0.000000	0.64402	D	0.000002	T	0.64159	0.2573	L	0.54863	1.705	0.54753	D	0.999988	P;P	0.51057	0.941;0.927	P;P	0.54210	0.745;0.628	T	0.65475	-0.6159	10	0.72032	D	0.01	.	18.7374	0.91761	0.0:1.0:0.0:0.0	.	247;247	Q86VH5;Q86VH5-2	LRRT3_HUMAN;.	I	247	ENSP00000355187:T247I	ENSP00000355187:T247I	T	+	2	0	LRRTM3	68357420	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.230000	0.65321	2.711000	0.92665	0.650000	0.86243	ACC		0.463	LRRTM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048277.2	NM_178011		40	37	0	0	0	1	0	40	37					T	68687414	C	T	68687414	3	4	435	1	0	0	0	0	1	0	0	0	9041	507	18	3	746	3	LRRTM3	10	68687414	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	3307943	68687414	66847333	4704	25629											
LRRTM3	347731	broad.mit.edu	37	chr10	68687898	68687898	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acagagcccggcccagagacCgatgctgacgccgagcacat	11	3	12	15	4	0	3	0	1	0	2	0	6	0	3	4	1	3	2	4	1	0	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:68687898C>T	ENST00000361320.4	+	2	1802	c.1224C>T	c.(1222-1224)acC>acT	p.T408T	CTNNA3_ENST00000373744.4_Intron|CTNNA3_ENST00000433211.2_Intron	NM_178011.3	NP_821079.3	Q86VH5	LRRT3_HUMAN	leucine rich repeat transmembrane neuronal 3	408					positive regulation of beta-amyloid formation (GO:1902004)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)				breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	41						GCCCAGAGACCGATGCTGACG	0.597																																						ENST00000361320.4																			0				breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	41						c.(1222-1224)acC>acT		leucine rich repeat transmembrane neuronal 3							49	52	51					10																	68687898		2203	4300	6503	SO:0001819	synonymous_variant	347731					integral to membrane		g.chr10:68687898C>T	BX640611	CCDS7270.1	10q22.1	2007-01-22				ENSG00000198739			19410	protein-coding gene	gene with protein product		610869				12676565	Standard	XR_247527		Approved		uc001jmz.1	Q86VH5		ENST00000361320.4:c.1224C>T	10.37:g.68687898C>T						CTNNA3_ENST00000373744.4_Intron|CTNNA3_ENST00000433211.1_Intron|CTNNA3_ENST00000494580.1_Intron	p.T408T	NM_178011.3	NP_821079.3	Q86VH5	LRRT3_HUMAN			2	1802	+			408					A8K2A3|Q2NKX7|Q6N0A3	Silent	SNP	ENST00000361320.4	37	c.1224C>T	CCDS7270.1																																																																																				0.597	LRRTM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048277.2	NM_178011		8	18	0	0	0	1	0	8	18					T	68687898	C	T	68687898	2	4	435	1	0	0	0	0	0	0	0	1	9041	639	23	2		2	LRRTM3	10	68687898	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	484	68687898	66846849	4705	25630											
CTNNA3	29119	broad.mit.edu	37	chr10	68940084	68940084	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagtcacctacgttgttcatGtactctgaaagcagatcctg	10	12	8	11	1	3	2	2	1	1	1	4	2	4	2	2	0	3	4	2	0	3	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:68940084G>A	ENST00000433211.2	-	7	1212	c.1038C>T	c.(1036-1038)taC>taT	p.Y346Y	CTNNA3_ENST00000373744.4_Silent_p.Y346Y|CTNNA3_ENST00000545309.1_Silent_p.Y346Y	NM_013266.2	NP_037398.2			catenin (cadherin-associated protein), alpha 3											breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	95						CGTTGTTCATGTACTCTGAAA	0.483																																						ENST00000433211.1																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	95						c.(1036-1038)taC>taT		catenin (cadherin-associated protein), alpha 3							110	97	101					10																	68940084		2203	4300	6503	SO:0001819	synonymous_variant	29119				cell-cell adhesion	actin cytoskeleton|cytoplasm|fascia adherens	cadherin binding|structural molecule activity	g.chr10:68940084G>A	AF091606	CCDS7269.1	10q21	2006-11-24			ENSG00000183230	ENSG00000183230			2511	protein-coding gene	gene with protein product		607667				12596047, 11590244	Standard	XM_005269717		Approved	VR22, MGC26194	uc001jmw.2	Q9UI47	OTTHUMG00000018334	ENST00000433211.2:c.1038C>T	10.37:g.68940084G>A						CTNNA3_ENST00000373744.4_Silent_p.Y346Y|CTNNA3_ENST00000545309.1_Silent_p.Y346Y|CTNNA3_ENST00000494580.1_5'UTR	p.Y346Y	NM_013266.2	NP_037398.2	Q9UI47	CTNA3_HUMAN			7	1212	-			346						Silent	SNP	ENST00000433211.2	37	c.1038C>T	CCDS7269.1																																																																																				0.483	CTNNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048282.2	NM_013266		12	17	0	0	0	1	0	12	17					A	68940084	G	A	68940084	2	1	435	1	0	0	0	0	0	0	0	1	4014	1372	48	3		3	CTNNA3	10	68940084	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	252186	68940084	66594663	4706	25631											
CTNNA3	29119	broad.mit.edu	37	chr10	68940102	68940102	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atgtactctgaaagcagatcCtgaagagcctggcgaatggc	12	8	12	9	1	1	4	0	2	1	2	2	5	2	4	2	2	3	2	2	2	4	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:68940102C>T	ENST00000433211.2	-	7	1194	c.1020G>A	c.(1018-1020)caG>caA	p.Q340Q	CTNNA3_ENST00000373744.4_Silent_p.Q340Q|CTNNA3_ENST00000545309.1_Silent_p.Q340Q	NM_013266.2	NP_037398.2			catenin (cadherin-associated protein), alpha 3											breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	95						AAAGCAGATCCTGAAGAGCCT	0.502																																						ENST00000433211.1																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	95						c.(1018-1020)caG>caA		catenin (cadherin-associated protein), alpha 3							114	101	105					10																	68940102		2203	4300	6503	SO:0001819	synonymous_variant	29119				cell-cell adhesion	actin cytoskeleton|cytoplasm|fascia adherens	cadherin binding|structural molecule activity	g.chr10:68940102C>T	AF091606	CCDS7269.1	10q21	2006-11-24			ENSG00000183230	ENSG00000183230			2511	protein-coding gene	gene with protein product		607667				12596047, 11590244	Standard	XM_005269717		Approved	VR22, MGC26194	uc001jmw.2	Q9UI47	OTTHUMG00000018334	ENST00000433211.2:c.1020G>A	10.37:g.68940102C>T						CTNNA3_ENST00000373744.4_Silent_p.Q340Q|CTNNA3_ENST00000545309.1_Silent_p.Q340Q|CTNNA3_ENST00000494580.1_5'UTR	p.Q340Q	NM_013266.2	NP_037398.2	Q9UI47	CTNA3_HUMAN			7	1194	-			340						Silent	SNP	ENST00000433211.2	37	c.1020G>A	CCDS7269.1																																																																																				0.502	CTNNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048282.2	NM_013266		15	21	0	0	0	1	0	15	21					T	68940102	C	T	68940102	2	4	435	1	0	0	0	0	0	0	0	1	4014	680	24	3		3	CTNNA3	10	68940102	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	18	68940102	66594645	4707	25632											
SIRT1	23411	broad.mit.edu	37	chr10	69676052	69676052	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tctgtttttgccaccaaatcGttacattttccatggcgctg	7	16	7	11	2	1	0	0	0	1	0	3	0	2	0	3	1	2	3	3	1	2	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:69676052G>A	ENST00000212015.6	+	9	1999	c.1946G>A	c.(1945-1947)cGt>cAt	p.R649H	SIRT1_ENST00000403579.1_Missense_Mutation_p.R346H|SIRT1_ENST00000406900.1_Missense_Mutation_p.R346H|SIRT1_ENST00000432464.1_Missense_Mutation_p.R354H	NM_012238.4	NP_036370.2	Q96EB6	SIR1_HUMAN	sirtuin 1	649					angiogenesis (GO:0001525)|cell aging (GO:0007569)|cellular glucose homeostasis (GO:0001678)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to starvation (GO:0009267)|cellular response to tumor necrosis factor (GO:0071356)|cellular triglyceride homeostasis (GO:0035356)|cholesterol homeostasis (GO:0042632)|chromatin organization (GO:0006325)|chromatin silencing (GO:0006342)|chromatin silencing at rDNA (GO:0000183)|circadian regulation of gene expression (GO:0032922)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA synthesis involved in DNA repair (GO:0000731)|establishment of chromatin silencing (GO:0006343)|fatty acid homeostasis (GO:0055089)|histone deacetylation (GO:0016575)|histone H3 deacetylation (GO:0070932)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|maintenance of chromatin silencing (GO:0006344)|methylation-dependent chromatin silencing (GO:0006346)|muscle organ development (GO:0007517)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cAMP-dependent protein kinase activity (GO:2000480)|negative regulation of cell growth (GO:0030308)|negative regulation of cellular response to testosterone stimulus (GO:2000655)|negative regulation of cellular senescence (GO:2000773)|negative regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043518)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of helicase activity (GO:0051097)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:1902166)|negative regulation of neuron death (GO:1901215)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|negative regulation of peptidyl-lysine acetylation (GO:2000757)|negative regulation of phosphorylation (GO:0042326)|negative regulation of prostaglandin biosynthetic process (GO:0031393)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of TOR signaling (GO:0032007)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|ovulation from ovarian follicle (GO:0001542)|peptidyl-lysine acetylation (GO:0018394)|peptidyl-lysine deacetylation (GO:0034983)|positive regulation of adaptive immune response (GO:0002821)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cAMP-dependent protein kinase activity (GO:2000481)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cellular senescence (GO:2000774)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of chromatin silencing (GO:0031937)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of DNA repair (GO:0045739)|positive regulation of histone H3-K9 methylation (GO:0051574)|positive regulation of insulin receptor signaling pathway (GO:0046628)|positive regulation of macroautophagy (GO:0016239)|positive regulation of macrophage apoptotic process (GO:2000111)|positive regulation of MHC class II biosynthetic process (GO:0045348)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein deacetylation (GO:0006476)|protein destabilization (GO:0031648)|protein ubiquitination (GO:0016567)|pyrimidine dimer repair by nucleotide-excision repair (GO:0000720)|regulation of bile acid biosynthetic process (GO:0070857)|regulation of cell proliferation (GO:0042127)|regulation of endodeoxyribonuclease activity (GO:0032071)|regulation of glucose metabolic process (GO:0010906)|regulation of mitotic cell cycle (GO:0007346)|regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035358)|regulation of protein import into nucleus, translocation (GO:0033158)|regulation of smooth muscle cell apoptotic process (GO:0034391)|response to hydrogen peroxide (GO:0042542)|response to insulin (GO:0032868)|response to oxidative stress (GO:0006979)|rRNA processing (GO:0006364)|single strand break repair (GO:0000012)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)|triglyceride mobilization (GO:0006642)|viral process (GO:0016032)|white fat cell differentiation (GO:0050872)	chromatin silencing complex (GO:0005677)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear envelope (GO:0005635)|nuclear euchromatin (GO:0005719)|nuclear heterochromatin (GO:0005720)|nuclear inner membrane (GO:0005637)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|rDNA heterochromatin (GO:0033553)	bHLH transcription factor binding (GO:0043425)|deacetylase activity (GO:0019213)|enzyme binding (GO:0019899)|histone binding (GO:0042393)|histone deacetylase activity (GO:0004407)|HLH domain binding (GO:0043398)|identical protein binding (GO:0042802)|keratin filament binding (GO:1990254)|metal ion binding (GO:0046872)|mitogen-activated protein kinase binding (GO:0051019)|NAD+ binding (GO:0070403)|NAD-dependent histone deacetylase activity (GO:0017136)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent protein deacetylase activity (GO:0034979)|p53 binding (GO:0002039)|protein C-terminus binding (GO:0008022)|protein deacetylase activity (GO:0033558)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(3)|skin(1)	14						CCACCAAATCGTTACATTTTC	0.393																																						ENST00000212015.6																			0				central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(3)|skin(1)	14						c.(1945-1947)cGt>cAt		sirtuin 1							113	109	111					10																	69676052		2203	4300	6503	SO:0001583	missense	23411				apoptosis|cell aging|cellular response to hydrogen peroxide|cellular response to starvation|chromatin silencing at rDNA|DNA repair|DNA replication|establishment of chromatin silencing|histone H3 deacetylation|interspecies interaction between organisms|maintenance of chromatin silencing|muscle organ development|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of fat cell differentiation|negative regulation of helicase activity|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|peptidyl-lysine acetylation|peptidyl-lysine deacetylation|positive regulation of anti-apoptosis|positive regulation of chromatin silencing|positive regulation of DNA repair|regulation of apoptosis|regulation of cell proliferation|regulation of endodeoxyribonuclease activity|regulation of protein import into nucleus, translocation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|rRNA processing|transcription, DNA-dependent|triglyceride mobilization|white fat cell differentiation	chromatin silencing complex|cytoplasm|nuclear euchromatin|nuclear heterochromatin|nuclear inner membrane|nucleolus|PML body|rDNA heterochromatin	bHLH transcription factor binding|histone binding|HLH domain binding|identical protein binding|mitogen-activated protein kinase binding|NAD+ binding|NAD-dependent histone deacetylase activity (H3-K9 specific)|p53 binding|protein C-terminus binding|transcription corepressor activity|zinc ion binding	g.chr10:69676052G>A	AF083106	CCDS7273.1, CCDS44412.1	10q21	2010-06-25	2010-06-25		ENSG00000096717	ENSG00000096717			14929	protein-coding gene	gene with protein product		604479	"sirtuin (silent mating type information regulation 2, S. cerevisiae, homolog) 1", "sirtuin (silent mating type information regulation 2 homolog) 1 (S. cerevisiae)"			10381378	Standard	NM_012238		Approved	SIR2L1	uc001jnd.3	Q96EB6	OTTHUMG00000018340	ENST00000212015.6:c.1946G>A	10.37:g.69676052G>A	ENSP00000212015:p.Arg649His					SIRT1_ENST00000432464.1_Missense_Mutation_p.R354H|SIRT1_ENST00000406900.1_Missense_Mutation_p.R346H|SIRT1_ENST00000403579.1_Missense_Mutation_p.R346H	p.R649H	NM_012238.4	NP_036370.2	Q96EB6	SIRT1_HUMAN			9	1999	+			649					Q2XNF6|Q5JVQ0|Q9GZR9|Q9Y6F0	Missense_Mutation	SNP	ENST00000212015.6	37	c.1946G>A	CCDS7273.1	.	.	.	.	.	.	.	.	.	.	G	19.83	3.900603	0.72754	.	.	ENSG00000096717	ENST00000212015;ENST00000432464;ENST00000406900;ENST00000403579	T;T;T;T	0.49432	0.78;0.78;0.78;0.78	5.98	5.98	0.97165	.	0.063315	0.64402	D	0.000004	T	0.48804	0.1520	M	0.64404	1.975	0.58432	D	0.999998	D;D	0.53745	0.962;0.962	B;B	0.38562	0.276;0.233	T	0.57676	-0.7770	10	0.87932	D	0	-13.2736	20.0685	0.97708	0.0:0.0:1.0:0.0	.	346;649	B0QZ35;Q96EB6	.;SIRT1_HUMAN	H	649;354;346;346	ENSP00000212015:R649H;ENSP00000409208:R354H;ENSP00000384508:R346H;ENSP00000384063:R346H	ENSP00000212015:R649H	R	+	2	0	SIRT1	69346058	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.082000	0.57635	2.835000	0.97688	0.650000	0.86243	CGT		0.393	SIRT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048296.1			42	58	0	0	0	1	0	42	58					A	69676052	G	A	69676052	3	1	435	1	0	0	0	0	1	0	0	0	14337	1145	40	1	1980	1	SIRT1	10	69676052	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	735950	69676052	65858695	4708	25633											
HERC4	26091	broad.mit.edu	37	chr10	69750903	69750903	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaattgccacttacctaacaGctaaaaaacttccatttagg	15	11	5	10	0	0	0	0	0	0	0	1	1	1	0	3	1	5	1	3	1	7	7			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:69750903G>A	ENST00000395198.3	-	12	1572	c.1325C>T	c.(1324-1326)gCt>gTt	p.A442V	HERC4_ENST00000412272.2_Missense_Mutation_p.A442V|HERC4_ENST00000277817.6_Missense_Mutation_p.A332V|HERC4_ENST00000395187.2_3'UTR|HERC4_ENST00000373700.4_Missense_Mutation_p.A442V	NM_022079.2	NP_071362.1	Q5GLZ8	HERC4_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 4	442					cell differentiation (GO:0030154)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	27						TTACCTAACAGCTAAAAAACT	0.219																																						ENST00000395198.3																			0				NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	27						c.(1324-1326)gCt>gTt		HECT and RLD domain containing E3 ubiquitin protein ligase 4							26	26	26					10																	69750903		2196	4275	6471	SO:0001583	missense	26091				cell differentiation|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|spermatogenesis	cytosol	ubiquitin-protein ligase activity	g.chr10:69750903G>A	AY221963	CCDS7274.1, CCDS41533.1, CCDS60541.1, CCDS60542.1	10q21.3	2013-09-20	2012-02-23		ENSG00000148634	ENSG00000148634			24521	protein-coding gene	gene with protein product		609248	"hect domain and RLD 4"			10997877	Standard	NM_022079		Approved	DKFZP564G092, KIAA1593	uc001jng.4	Q5GLZ8	OTTHUMG00000018343	ENST00000395198.3:c.1325C>T	10.37:g.69750903G>A	ENSP00000378624:p.Ala442Val					HERC4_ENST00000412272.2_Missense_Mutation_p.A442V|HERC4_ENST00000277817.6_Missense_Mutation_p.A332V|HERC4_ENST00000373700.4_Missense_Mutation_p.A442V|HERC4_ENST00000395187.2_3'UTR	p.A442V	NM_022079.2	NP_071362.1	Q5GLZ8	HERC4_HUMAN			12	1572	-			442					Q5GC98|Q5GC99|Q5GCA0|Q8IXP9|Q9HCH9	Missense_Mutation	SNP	ENST00000395198.3	37	c.1325C>T	CCDS41533.1	.	.	.	.	.	.	.	.	.	.	G	15.33	2.800982	0.50315	.	.	ENSG00000148634	ENST00000277817;ENST00000412272;ENST00000395198;ENST00000373700	T;T;T;T	0.46819	1.11;0.86;0.86;0.86	5.53	5.53	0.82687	.	0.169117	0.52532	D	0.000066	T	0.25754	0.0627	N	0.02802	-0.49	0.80722	D	1	B;B;B;B;B	0.24721	0.11;0.0;0.002;0.002;0.002	B;B;B;B;B	0.20184	0.028;0.002;0.008;0.008;0.003	T	0.11397	-1.0589	10	0.30078	T	0.28	.	15.8122	0.78573	0.0:0.0:0.8636:0.1364	.	442;442;292;442;442	Q5GLZ8-3;A8K9U4;Q5VXS9;Q5GLZ8-2;Q5GLZ8	.;.;.;.;HERC4_HUMAN	V	332;442;442;442	ENSP00000277817:A332V;ENSP00000416504:A442V;ENSP00000378624:A442V;ENSP00000362804:A442V	ENSP00000277817:A332V	A	-	2	0	HERC4	69420909	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.612000	0.67681	2.592000	0.87571	0.655000	0.94253	GCT		0.219	HERC4-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359262.1	NM_015601		3	48	0	0	0	1	0	3	48					A	69750903	G	A	69750903	3	1	435	1	0	0	0	0	1	0	0	0	7060	971	34	3	1908	3	HERC4	10	69750903	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	74851	69750903	65783844	4709	25634											
MYPN	84665	broad.mit.edu	37	chr10	69957223	69957223	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	catgaggggcgcctctgtcgGctggactgtaaggtagactc	7	9	15	10	2	1	2	0	1	1	1	3	3	1	3	1	5	0	3	1	5	2	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:69957223G>A	ENST00000358913.5	+	16	3761	c.3273G>A	c.(3271-3273)cgG>cgA	p.R1091R	MYPN_ENST00000354393.2_Silent_p.R816R|MYPN_ENST00000540630.1_Silent_p.R1091R	NM_001256267.1|NM_032578.3	NP_001243196.1|NP_115967.2	Q86TC9	MYPN_HUMAN	myopalladin	1091	Ig-like 4.|Interaction with ACTN.				sarcomere organization (GO:0045214)	I band (GO:0031674)|nucleus (GO:0005634)|Z disc (GO:0030018)	cytoskeletal protein binding (GO:0008092)|muscle alpha-actinin binding (GO:0051371)|SH3 domain binding (GO:0017124)			breast(2)|central_nervous_system(1)|endometrium(13)|kidney(6)|large_intestine(13)|liver(1)|lung(43)|ovary(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(5)	94						GCCTCTGTCGGCTGGACTGTA	0.458																																						ENST00000358913.5																			0				breast(2)|central_nervous_system(1)|endometrium(13)|kidney(6)|large_intestine(13)|liver(1)|lung(43)|ovary(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(5)	94						c.(3271-3273)cgG>cgA		myopalladin							96	99	98					10																	69957223		2203	4300	6503	SO:0001819	synonymous_variant	84665					nucleus|sarcomere	actin binding	g.chr10:69957223G>A	AL834247	CCDS7275.1, CCDS73142.1	10q22.1	2014-09-17			ENSG00000138347	ENSG00000138347		"Immunoglobulin superfamily / I-set domain containing"	23246	protein-coding gene	gene with protein product	"sarcomeric protein myopalladin, 145 kDa"	608517				11309420, 12482578	Standard	NM_032578		Approved	MYOP	uc001jnm.5	Q86TC9	OTTHUMG00000018344	ENST00000358913.5:c.3273G>A	10.37:g.69957223G>A						MYPN_ENST00000354393.2_Silent_p.R816R|MYPN_ENST00000540630.1_Silent_p.R1091R	p.R1091R	NM_001256267.1|NM_032578.3	NP_001243196.1|NP_115967.2	Q86TC9	MYPN_HUMAN			16	3761	+			1091			Ig-like 4.|Interaction with ACTN.		Q5VV35|Q5VV36|Q86T37|Q8N3L4|Q96K90|Q96KF5	Silent	SNP	ENST00000358913.5	37	c.3273G>A	CCDS7275.1																																																																																				0.458	MYPN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048307.1	NM_032578		30	48	0	0	0	1	0	30	48					A	69957223	G	A	69957223	2	1	435	1	0	0	0	0	0	0	0	1	10098	1190	42	3		3	MYPN	10	69957223	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	206320	69957223	65577524	4710	25635											
HNRNPH3	3189	broad.mit.edu	37	chr10	70101422	70101422	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gttctggaatgggaggctacGgaagagatggaatgggtatg	11	9	18	3	1	1	1	0	0	1	1	1	6	1	5	0	6	1	3	0	6	5	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:70101422G>A	ENST00000265866.7	+	8	1021	c.856G>A	c.(856-858)Gga>Aga	p.G286R	HNRNPH3_ENST00000354695.5_Missense_Mutation_p.G271R|HNRNPH3_ENST00000469172.1_3'UTR|HNRNPH3_ENST00000441000.2_Missense_Mutation_p.G178R	NM_012207.2|NM_021644.3	NP_036339.1|NP_067676.2	P31942	HNRH3_HUMAN	heterogeneous nuclear ribonucleoprotein H3 (2H9)	286	Gly-rich.				epithelial cell differentiation (GO:0030855)|mRNA splicing, via spliceosome (GO:0000398)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)	nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(5)|ovary(2)|prostate(2)	11						GGGAGGCTACGGAAGAGATGG	0.363																																						ENST00000265866.7																			0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(5)|ovary(2)|prostate(2)	11						c.(856-858)Gga>Aga		heterogeneous nuclear ribonucleoprotein H3 (2H9)							96	102	100					10																	70101422		2203	4300	6503	SO:0001583	missense	3189				nuclear mRNA splicing, via spliceosome	heterogeneous nuclear ribonucleoprotein complex	nucleotide binding|protein binding|RNA binding	g.chr10:70101422G>A		CCDS7278.1, CCDS7279.1	10q22	2013-02-12		2008-04-18	ENSG00000096746	ENSG00000096746		"RNA binding motif (RRM) containing"	5043	protein-coding gene	gene with protein product		602324		HNRPH3		8999868	Standard	NM_021644		Approved	2H9	uc001jnw.4	P31942	OTTHUMG00000018349	ENST00000265866.7:c.856G>A	10.37:g.70101422G>A	ENSP00000265866:p.Gly286Arg					HNRNPH3_ENST00000354695.5_Missense_Mutation_p.G271R|HNRNPH3_ENST00000441000.2_Missense_Mutation_p.G178R|HNRNPH3_ENST00000469172.1_3'UTR	p.G286R	NM_012207.2|NM_021644.3	NP_036339.1|NP_067676.2	P31942	HNRH3_HUMAN			8	1021	+			286			Gly-rich.		A8K682|B3KRE1|Q9BSX1|Q9NP53|Q9NP96|Q9NPA7|Q9NPI4|Q9UFU4|Q9Y4J5	Missense_Mutation	SNP	ENST00000265866.7	37	c.856G>A	CCDS7278.1	.	.	.	.	.	.	.	.	.	.	G	16.30	3.084304	0.55861	.	.	ENSG00000096746	ENST00000265866;ENST00000441000;ENST00000354695	T;T;T	0.15952	2.74;2.38;2.56	5.68	5.68	0.88126	.	0.000000	0.85682	D	0.000000	T	0.23926	0.0579	L	0.58810	1.83	0.80722	D	1	D;D;D	0.57899	0.968;0.981;0.968	B;P;B	0.47402	0.382;0.546;0.382	T	0.00531	-1.1686	10	0.39692	T	0.17	.	13.048	0.58937	0.0733:0.0:0.9267:0.0	.	178;271;286	B4DHY1;P31942-2;P31942	.;.;HNRH3_HUMAN	R	286;178;271	ENSP00000265866:G286R;ENSP00000409869:G178R;ENSP00000346726:G271R	ENSP00000265866:G286R	G	+	1	0	HNRNPH3	69771428	1.000000	0.71417	0.990000	0.47175	0.952000	0.60782	4.858000	0.62947	2.668000	0.90789	0.563000	0.77884	GGA		0.363	HNRNPH3-012	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090165.1			29	35	0	0	0	1	0	29	35					A	70101422	G	A	70101422	3	1	435	1	0	0	0	0	1	0	0	0	7268	1117	39	2	882	2	HNRNPH3	10	70101422	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	144199	70101422	65433325	4711	25636											
DNA2	1763	broad.mit.edu	37	chr10	70182590	70182590	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atccacaatacaaaaatcaaAaattttacgggaaaatattg	21	10	4	6	1	1	0	1	0	0	0	2	1	2	1	1	1	2	0	1	1	10	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:70182590A>G	ENST00000358410.3	-	15	2316	c.2266T>C	c.(2266-2268)Ttt>Ctt	p.F756L	DNA2_ENST00000399179.2_Intron|DNA2_ENST00000399180.2_Missense_Mutation_p.F842L	NM_001080449.2	NP_001073918.2	P51530	DNA2_HUMAN	DNA replication helicase/nuclease 2	756	Helicase activity. {ECO:0000250}.				ATP catabolic process (GO:0006200)|base-excision repair (GO:0006284)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA double-strand break processing (GO:0000729)|DNA duplex unwinding (GO:0032508)|DNA replication (GO:0006260)|DNA replication checkpoint (GO:0000076)|DNA replication, Okazaki fragment processing (GO:0033567)|DNA replication, removal of RNA primer (GO:0043137)|DNA strand elongation involved in DNA replication (GO:0006271)|mitochondrial DNA repair (GO:0043504)|mitochondrial DNA replication (GO:0006264)|mitotic cell cycle (GO:0000278)|positive regulation of DNA replication (GO:0045740)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)	mitochondrial nucleoid (GO:0042645)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|5'-3' DNA helicase activity (GO:0043139)|5'-flap endonuclease activity (GO:0017108)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|nuclease activity (GO:0004518)|single-stranded DNA-dependent ATPase activity (GO:0043142)|site-specific endodeoxyribonuclease activity, specific for altered base (GO:0016890)			breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(7)|prostate(1)	20						CAAAAATCAAAAATTTTACGG	0.353																																						ENST00000399180.2																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(7)|prostate(1)	20						c.(2524-2526)Ttt>Ctt		DNA replication helicase/nuclease 2							38	39	39					10																	70182590		1791	4061	5852	SO:0001583	missense	1763				base-excision repair|DNA replication, removal of RNA primer|mitochondrial DNA repair|mitochondrial DNA replication|positive regulation of DNA replication|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	mitochondrial nucleoid|nucleoplasm	5'-flap endonuclease activity|ATP binding|ATP-dependent DNA helicase activity|DNA binding|site-specific endodeoxyribonuclease activity, specific for altered base	g.chr10:70182590A>G	D42046	CCDS44415.1, CCDS44415.2	10q21.3-q22.1	2013-05-13	2013-05-13	2008-01-08	ENSG00000138346	ENSG00000138346			2939	protein-coding gene	gene with protein product		601810	"DNA2 DNA replication helicase 2-like (yeast)", "DNA replication helicase 2 homolog (yeast)"	DNA2L		8938459, 17032657, 23352259	Standard	NM_001080449		Approved	KIAA0083	uc031pvh.1	P51530	OTTHUMG00000018352	ENST00000358410.3:c.2266T>C	10.37:g.70182590A>G	ENSP00000351185:p.Phe756Leu					DNA2_ENST00000399179.2_Intron|DNA2_ENST00000358410.3_Missense_Mutation_p.F756L	p.F842L			P51530	DNA2L_HUMAN			15	2523	-			756					Q2NKM1|Q5TC49|Q5TC50|Q6P455|Q6PI80|Q7Z6H9|Q8N346	Missense_Mutation	SNP	ENST00000358410.3	37	c.2524T>C		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	25.0|25.0	4.593200|4.593200	0.86953|0.86953	.|.	.|.	ENSG00000138346|ENSG00000138346	ENST00000399180;ENST00000358410|ENST00000440722	D;D|.	0.87491|.	-2.26;-2.26|.	5.8|5.8	5.8|5.8	0.92144|0.92144	.|.	0.048510|0.048510	0.85682|0.85682	D|D	0.000000|0.000000	T|T	0.79458|0.79458	0.4449|0.4449	M|M	0.89968|0.89968	3.075|3.075	0.80722|0.80722	D|D	1|1	D|.	0.76494|.	0.999|.	D|.	0.72625|.	0.978|.	T|T	0.83043|0.83043	-0.0156|-0.0156	10|6	0.87932|.	D|.	0|.	.|.	11.2577|11.2577	0.49063|0.49063	0.8636:0.0:0.0:0.1364|0.8636:0.0:0.0:0.1364	.|.	756|.	P51530|.	DNA2L_HUMAN|.	L|S	842;756|77	ENSP00000382133:F842L;ENSP00000351185:F756L|.	ENSP00000351185:F756L|.	F|F	-|-	1|2	0|0	DNA2|DNA2	69852596|69852596	1.000000|1.000000	0.71417|0.71417	0.991000|0.991000	0.47740|0.47740	0.992000|0.992000	0.81027|0.81027	9.104000|9.104000	0.94239|0.94239	2.223000|2.223000	0.72356|0.72356	0.477000|0.477000	0.44152|0.44152	TTT|TTT		0.353	DNA2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000048334.2			8	36	0	0	0	1	0	8	36					G	70182590	A	G	70182590	3	3	435	1	0	0	0	0	1	0	0	0	4596	14	1	4	944	4	DNA2	10	70182590	Missense_Mutation	SNP	A	TCGA-XK-AAIW-01A-11D-A41K-08	81168	70182590	65352157	4712	25637											
DNA2	1763	broad.mit.edu	37	chr10	70229775	70229775	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcatagttctttattttctaGtgactgtgaagcagtgatga	10	16	10	5	0	2	4	0	4	2	0	2	4	2	4	0	0	1	3	0	0	4	7			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:70229775G>C	ENST00000358410.3	-	2	270	c.220C>G	c.(220-222)Cta>Gta	p.L74V	DNA2_ENST00000399179.2_Missense_Mutation_p.L74V|DNA2_ENST00000399180.2_Missense_Mutation_p.L160V	NM_001080449.2	NP_001073918.2	P51530	DNA2_HUMAN	DNA replication helicase/nuclease 2	74					ATP catabolic process (GO:0006200)|base-excision repair (GO:0006284)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA double-strand break processing (GO:0000729)|DNA duplex unwinding (GO:0032508)|DNA replication (GO:0006260)|DNA replication checkpoint (GO:0000076)|DNA replication, Okazaki fragment processing (GO:0033567)|DNA replication, removal of RNA primer (GO:0043137)|DNA strand elongation involved in DNA replication (GO:0006271)|mitochondrial DNA repair (GO:0043504)|mitochondrial DNA replication (GO:0006264)|mitotic cell cycle (GO:0000278)|positive regulation of DNA replication (GO:0045740)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)	mitochondrial nucleoid (GO:0042645)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|5'-3' DNA helicase activity (GO:0043139)|5'-flap endonuclease activity (GO:0017108)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|nuclease activity (GO:0004518)|single-stranded DNA-dependent ATPase activity (GO:0043142)|site-specific endodeoxyribonuclease activity, specific for altered base (GO:0016890)			breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(7)|prostate(1)	20						TTATTTTCTAGTGACTGTGAA	0.413																																						ENST00000399180.2																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(7)|prostate(1)	20						c.(478-480)Cta>Gta		DNA replication helicase/nuclease 2							102	90	94					10																	70229775		1865	4098	5963	SO:0001583	missense	1763				base-excision repair|DNA replication, removal of RNA primer|mitochondrial DNA repair|mitochondrial DNA replication|positive regulation of DNA replication|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	mitochondrial nucleoid|nucleoplasm	5'-flap endonuclease activity|ATP binding|ATP-dependent DNA helicase activity|DNA binding|site-specific endodeoxyribonuclease activity, specific for altered base	g.chr10:70229775G>C	D42046	CCDS44415.1, CCDS44415.2	10q21.3-q22.1	2013-05-13	2013-05-13	2008-01-08	ENSG00000138346	ENSG00000138346			2939	protein-coding gene	gene with protein product		601810	"DNA2 DNA replication helicase 2-like (yeast)", "DNA replication helicase 2 homolog (yeast)"	DNA2L		8938459, 17032657, 23352259	Standard	NM_001080449		Approved	KIAA0083	uc031pvh.1	P51530	OTTHUMG00000018352	ENST00000358410.3:c.220C>G	10.37:g.70229775G>C	ENSP00000351185:p.Leu74Val					DNA2_ENST00000399179.2_Missense_Mutation_p.L74V|DNA2_ENST00000358410.3_Missense_Mutation_p.L74V	p.L160V			P51530	DNA2L_HUMAN			2	477	-			74					Q2NKM1|Q5TC49|Q5TC50|Q6P455|Q6PI80|Q7Z6H9|Q8N346	Missense_Mutation	SNP	ENST00000358410.3	37	c.478C>G		.	.	.	.	.	.	.	.	.	.	G	10.74	1.436322	0.25813	.	.	ENSG00000138346	ENST00000551118;ENST00000399180;ENST00000399179;ENST00000358410	D;D;D	0.93763	-2.78;-3.28;-2.76	5.43	3.54	0.40534	DNA replication factor Dna2 (1);	1.390360	0.04763	N	0.426647	D	0.91469	0.7307	L	0.48362	1.52	0.09310	N	1	P;P	0.44344	0.718;0.833	B;B	0.42882	0.221;0.401	T	0.81326	-0.0983	10	0.30078	T	0.28	.	9.3008	0.37845	0.0762:0.2689:0.6549:0.0	.	74;74	F8VR31;P51530	.;DNA2L_HUMAN	V	74;160;74;74	ENSP00000382133:L160V;ENSP00000382132:L74V;ENSP00000351185:L74V	ENSP00000351185:L74V	L	-	1	2	DNA2	69899781	0.048000	0.20356	0.043000	0.18650	0.685000	0.39939	1.675000	0.37555	1.259000	0.44117	0.491000	0.48974	CTA		0.413	DNA2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000048334.2			21	35	0	0	0	1	0	21	35					C	70229775	G	C	70229775	3	2	435	1	0	0	0	0	1	0	0	0	4596	1020	36	5	3042	5	DNA2	10	70229775	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	47185	70229775	65304972	4713	25638											
SLC25A16	8034	broad.mit.edu	37	chr10	70276515	70276515	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tctattaactcacctaaatgCttgtaatggtgattgtgagc	11	15	8	7	0	2	2	1	2	1	0	2	2	2	2	1	1	3	2	1	1	5	6	rs144747524		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:70276515C>T	ENST00000609923.1	-	2	314	c.216G>A	c.(214-216)aaG>aaA	p.K72K	SLC25A16_ENST00000265870.3_5'UTR|SLC25A16_ENST00000539557.1_5'UTR	NM_152707.3	NP_689920.1	P16260	GDC_HUMAN	solute carrier family 25 (mitochondrial carrier), member 16	72					coenzyme biosynthetic process (GO:0009108)|pantothenate metabolic process (GO:0015939)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)	antiporter activity (GO:0015297)			endometrium(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)	7						CACCTAAATGCTTGTAATGGT	0.333																																						ENST00000265870.2																			0				endometrium(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)	7						c.(214-216)aaG>aaA		solute carrier family 25 (mitochondrial carrier; Graves disease autoantigen), member 16		C		2,4404	4.2+/-10.8	0,2,2201	122	113	116		216	0	1	10	dbSNP_134	116	0,8600		0,0,4300	no	coding-synonymous	SLC25A16	NM_152707.3		0,2,6501	TT,TC,CC		0.0,0.0454,0.0154		72/333	70276515	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	8034				coenzyme biosynthetic process|pantothenate metabolic process	integral to membrane|mitochondrial inner membrane	binding|solute:solute antiporter activity	g.chr10:70276515C>T	M31659	CCDS7280.1	10q21.3-q22.1	2014-06-17	2014-06-17		ENSG00000122912	ENSG00000122912		"Solute carriers"	10986	protein-coding gene	gene with protein product	"Graves disease autoantigen"	139080				8444471, 2575220	Standard	NM_152707		Approved	GDA, D10S105E, HGT.1, ML7	uc001joi.3	P16260	OTTHUMG00000018354	ENST00000609923.1:c.216G>A	10.37:g.70276515C>T						SLC25A16_ENST00000493963.1_5'UTR|SLC25A16_ENST00000539557.1_5'UTR	p.K72K	NM_152707.3	NP_689920.1	P16260	GDC_HUMAN			2	314	-			72					Q8N2U1	Silent	SNP	ENST00000609923.1	37	c.216G>A	CCDS7280.1																																																																																				0.333	SLC25A16-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048347.2			12	20	0	0	0	1	0	12	20					T	70276515	C	T	70276515	2	4	435	1	0	0	0	0	0	0	0	1	14478	796	28	3		3	SLC25A16	10	70276515	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	46740	70276515	65258232	4714	25639											
TET1	80312	broad.mit.edu	37	chr10	70332152	70332153	+	Frame_Shift_Ins	INS	-	-	A																															tcaggaaggaagatgtaaacINSaaaaaaaagaaaaacagcca																								rs77014514		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:70332152_70332153insA	ENST00000373644.4	+	2	266_267	c.57_58insA	c.(58-60)aaafs	p.K20fs		NM_030625.2	NP_085128.2	Q8NFU7	TET1_HUMAN	tet methylcytosine dioxygenase 1	20					chromatin modification (GO:0016568)|DNA demethylation (GO:0080111)|inner cell mass cell differentiation (GO:0001826)|negative regulation of methylation-dependent chromatin silencing (GO:0090310)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein O-linked glycosylation (GO:0006493)|regulation of DNA methylation (GO:0044030)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	iron ion binding (GO:0005506)|methylcytosine dioxygenase activity (GO:0070579)|structure-specific DNA binding (GO:0043566)|zinc ion binding (GO:0008270)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2)	21						AAGATGTAAACAAAAAAAAGAA	0.416																																						ENST00000373644.4																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2)	21						c.(55-60)aaaaaafs		tet methylcytosine dioxygenase 1																																				SO:0001589	frameshift_variant	80312				DNA demethylation|inner cell mass cell differentiation|negative regulation of methylation-dependent chromatin silencing|stem cell maintenance		iron ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|structure-specific DNA binding|zinc ion binding	g.chr10:70332152_70332153insA	AF430147	CCDS7281.1	10q21	2014-02-18	2011-09-30	2008-03-12	ENSG00000138336	ENSG00000138336			29484	protein-coding gene	gene with protein product	"leukemia-associated protein with a CXXC domain", "ten-eleven translocation-1"	607790	"CXXC zinc finger 6", "tet oncogene 1"	CXXC6		12124344, 12646957	Standard	NM_030625		Approved	LCX, KIAA1676, bA119F7.1	uc001jok.4	Q8NFU7	OTTHUMG00000018359	ENST00000373644.4:c.65dupA	10.37:g.70332160_70332160dupA	ENSP00000362748:p.Lys20fs						p.KK19fs	NM_030625.2	NP_085128.2	Q8NFU7	TET1_HUMAN			2	266_267	+			19					Q5VUP7|Q7Z6B6|Q8TCR1|Q9C0I7	Frame_Shift_Ins	INS	ENST00000373644.4	37	c.57_58insA	CCDS7281.1																																																																																				0.416	TET1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048354.1	NM_030625		13	18						13	18	---	---	---	---	A	70332153	-	A	70332152	7	5	435	1	0	1	1	0	0	0	0	0	15766	477	17	0	59	0	TET1	10	70332152	Frame_Shift_Ins	INS	-	TCGA-XK-AAIW-01A-11D-A41K-08	55637	70332152	65202595	4715	25640											
CCAR1	55749	broad.mit.edu	37	chr10	70545919	70545919	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atgaggaagaaatgaccaaaCgagatgacaaaagagatatc	21	5	10	5	1	0	6	0	3	0	3	1	9	0	7	1	1	1	0	1	1	6	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:70545919C>T	ENST00000265872.6	+	20	2796	c.2677C>T	c.(2677-2679)Cga>Tga	p.R893*	CCAR1_ENST00000543719.1_Nonsense_Mutation_p.R878*|CCAR1_ENST00000535016.1_Nonsense_Mutation_p.R878*	NM_001282959.1|NM_001282960.1|NM_018237.2	NP_001269888.1|NP_001269889.1|NP_060707.2	Q8IX12	CCAR1_HUMAN	cell division cycle and apoptosis regulator 1	893					apoptotic process (GO:0006915)|cell cycle (GO:0007049)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(7)|skin(3)	56						AATGACCAAACGAGATGACAA	0.348																																						ENST00000265872.6																			0				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(7)|skin(3)	56						c.(2677-2679)Cga>Tga		cell division cycle and apoptosis regulator 1							111	103	106					10																	70545919		2203	4300	6503	SO:0001587	stop_gained	55749				apoptosis|cell cycle|nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm|perinuclear region of cytoplasm	calcium ion binding|nucleic acid binding|protein binding	g.chr10:70545919C>T	AY249140	CCDS7282.1, CCDS60547.1	10q22.1	2004-02-19			ENSG00000060339	ENSG00000060339			24236	protein-coding gene	gene with protein product		612569				12816952	Standard	NM_018237		Approved	FLJ10590, CARP-1, CARP1	uc001joo.3	Q8IX12	OTTHUMG00000018361	ENST00000265872.6:c.2677C>T	10.37:g.70545919C>T	ENSP00000265872:p.Arg893*					CCAR1_ENST00000543719.1_Nonsense_Mutation_p.R878*|CCAR1_ENST00000535016.1_Nonsense_Mutation_p.R878*	p.R893*	NM_018237.2	NP_060707.2	Q8IX12	CCAR1_HUMAN			20	2796	+			893					A0JLT7|A1L4P7|A8K9D4|B4DNP8|B4DRK8|Q32NE3|Q5EBM3|Q5VUP6|Q6PIZ0|Q6X935|Q9H8N4|Q9NVA7|Q9NVQ0|Q9NWM6	Nonsense_Mutation	SNP	ENST00000265872.6	37	c.2677C>T	CCDS7282.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	38|38	6.978434|6.978434	0.97979|0.97979	.|.	.|.	ENSG00000060339|ENSG00000060339	ENST00000265872;ENST00000535016;ENST00000543719;ENST00000539539|ENST00000543706	.|.	.|.	.|.	5.35|5.35	-0.399|-0.399	0.12415|0.12415	.|.	0.090836|.	0.51477|.	D|.	0.000094|.	.|T	.|0.61949	.|0.2388	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.68957	.|-0.5272	.|3	0.09084|.	T|.	0.74|.	-9.9281|-9.9281	15.8299|15.8299	0.78743|0.78743	0.5833:0.4167:0.0:0.0|0.5833:0.4167:0.0:0.0	.|.	.|.	.|.	.|.	X|M	893;878;878;878|182	.|.	ENSP00000265872:R893X|.	R|T	+|+	1|2	2|0	CCAR1|CCAR1	70215925|70215925	1.000000|1.000000	0.71417|0.71417	0.968000|0.968000	0.41197|0.41197	0.788000|0.788000	0.44548|0.44548	1.059000|1.059000	0.30517|0.30517	0.020000|0.020000	0.15106|0.15106	-0.181000|-0.181000	0.13052|0.13052	CGA|ACG		0.348	CCAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048356.2	NM_018237		7	15	0	0	0	1	0	7	15					T	70545919	C	T	70545919	4	4	435	1	0	0	0	0	0	1	0	0	2730	528	19	1	2751	1	CCAR1	10	70545919	Nonsense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	213767	70545919	64988828	4716	25641											
VPS26A	9559	broad.mit.edu	37	chr10	70917884	70917884	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	attgttcaccagcttgccacCtatcctgatgttaacaactc	10	13	5	13	0	1	1	1	1	0	0	3	1	2	1	4	0	4	3	4	0	3	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:70917884C>A	ENST00000373382.1	+	6	1121	c.468C>A	c.(466-468)acC>acA	p.T156T	VPS26A_ENST00000263559.6_Silent_p.T156T|VPS26A_ENST00000490696.1_Intron|VPS26A_ENST00000395098.1_Silent_p.T156T|VPS26A_ENST00000489794.1_Silent_p.T131T|VPS26A_ENST00000546041.1_Silent_p.T139T|VPS26A_ENST00000541711.1_Silent_p.T45T			O75436	VP26A_HUMAN	vacuolar protein sorting 26 homolog A (S. pombe)	156					retrograde transport, endosome to Golgi (GO:0042147)	cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|vesicle (GO:0031982)	protein transporter activity (GO:0008565)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(2)	8						AGCTTGCCACCTATCCTGATG	0.323																																					Colon(90;545 1358 4729 6702 16773)	ENST00000373382.1																			0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(2)	8						c.(466-468)acC>acA		vacuolar protein sorting 26 homolog A (S. pombe)							93	90	91					10																	70917884		2203	4300	6503	SO:0001819	synonymous_variant	9559				retrograde transport, endosome to Golgi|vacuolar transport	cytosol|endosome membrane|retromer complex|vesicle	protein binding|protein transporter activity	g.chr10:70917884C>A	AF054179	CCDS7286.1, CCDS41536.1	10q21.1	2007-01-12	2007-01-12	2005-10-11	ENSG00000122958	ENSG00000122958			12711	protein-coding gene	gene with protein product		605506	"vacuolar protein sorting 26 (yeast homolog)", "vacuolar protein sorting 26 (yeast)", "vacuolar protein sorting 26 homolog A (yeast)"	VPS26		1638986, 9653160	Standard	NM_004896		Approved	Hbeta58, PEP8A	uc001jpb.3	O75436	OTTHUMG00000018376	ENST00000373382.1:c.468C>A	10.37:g.70917884C>A						VPS26A_ENST00000395098.1_Silent_p.T156T|VPS26A_ENST00000263559.6_Silent_p.T156T|VPS26A_ENST00000546041.1_Silent_p.T139T|VPS26A_ENST00000490696.1_Intron|VPS26A_ENST00000489794.1_Silent_p.T131T|VPS26A_ENST00000541711.1_Silent_p.T45T	p.T156T			O75436	VP26A_HUMAN			6	1121	+			156					A8MZ56|B2RDD3|Q8TBH4|Q9H982	Silent	SNP	ENST00000373382.1	37	c.468C>A	CCDS7286.1																																																																																				0.323	VPS26A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048403.1	NM_004896		14	25	1	0	6.94344e-10	1	7.39541e-10	14	25					A	70917884	C	A	70917884	2	1	435	1	0	0	0	0	0	0	0	1	17194	668	24	5		5	VPS26A	10	70917884	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	371965	70917884	64616863	4717	25642											
HKDC1	80201	broad.mit.edu	37	chr10	71002999	71002999	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attgacctggtggagggcgaCgagggcaggatgtgcatcaa	10	7	17	7	2	1	1	1	1	0	0	1	5	1	3	1	5	1	2	1	5	1	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:71002999C>T	ENST00000354624.5	+	7	886	c.753C>T	c.(751-753)gaC>gaT	p.D251D	HKDC1_ENST00000395086.2_Silent_p.D251D	NM_025130.3	NP_079406	Q2TB90	HKDC1_HUMAN	hexokinase domain containing 1	251	Hexokinase type-2 1.				carbohydrate phosphorylation (GO:0046835)|cellular glucose homeostasis (GO:0001678)|glucose 6-phosphate metabolic process (GO:0051156)|glycolytic process (GO:0006096)|hexose metabolic process (GO:0019318)	cytosol (GO:0005829)	ATP binding (GO:0005524)|fructokinase activity (GO:0008865)|glucokinase activity (GO:0004340)|mannokinase activity (GO:0019158)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(11)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						TGGAGGGCGACGAGGGCAGGA	0.587																																						ENST00000354624.5																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(11)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						c.(751-753)gaC>gaT		hexokinase domain containing 1							129	118	122					10																	71002999		2203	4300	6503	SO:0001819	synonymous_variant	80201				glycolysis	mitochondrion|nucleus	ATP binding|hexokinase activity	g.chr10:71002999C>T		CCDS7288.1	10q22.1	2006-10-24			ENSG00000156510	ENSG00000156510			23302	protein-coding gene	gene with protein product						12477932	Standard	NM_025130		Approved	FLJ37767, FLJ22761	uc001jpf.4	Q2TB90	OTTHUMG00000018371	ENST00000354624.5:c.753C>T	10.37:g.71002999C>T						HKDC1_ENST00000395086.2_Silent_p.D251D	p.D251D	NM_025130.3	NP_079406.3	Q2TB90	HKDC1_HUMAN			7	886	+			251					B5MDN9|Q2TB91|Q5VTC7|Q7Z373|Q8WU37|Q96EH2|Q9H5Y9	Silent	SNP	ENST00000354624.5	37	c.753C>T	CCDS7288.1																																																																																				0.587	HKDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048389.1	NM_025130		37	49	0	0	0	1	0	37	49					T	71002999	C	T	71002999	2	4	435	1	0	0	0	0	0	0	0	1	7193	535	19	1		1	HKDC1	10	71002999	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	85115	71002999	64531748	4718	25643											
HK1	3098	broad.mit.edu	37	chr10	71055391	71055391	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtcctgtctttctctaaggcTacagcagctgaaaaaccaaa	13	10	7	11	0	2	1	0	1	2	0	4	1	3	1	2	1	4	3	2	1	5	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:71055391T>C	ENST00000448642.2	+	6	512	c.123T>C	c.(121-123)gcT>gcC	p.A41A	HK1_ENST00000404387.2_Silent_p.A10A|HK1_ENST00000360289.2_5'UTR			P19367	HXK1_HUMAN	hexokinase 1	0	Hexokinase type-1 1.|Regulatory.				carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|cell death (GO:0008219)|cellular glucose homeostasis (GO:0001678)|glucose 6-phosphate metabolic process (GO:0051156)|glucose transport (GO:0015758)|glycolytic process (GO:0006096)|hexose metabolic process (GO:0019318)|hexose transport (GO:0008645)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|fructokinase activity (GO:0008865)|glucokinase activity (GO:0004340)|hexokinase activity (GO:0004396)|mannokinase activity (GO:0019158)			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(14)|ovary(1)|urinary_tract(2)	35						TCTCTAAGGCTACAGCAGCTG	0.323																																						ENST00000448642.2																			0				breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(14)|ovary(1)|urinary_tract(2)	35						c.(121-123)gcT>gcC		hexokinase 1							136	121	126					10																	71055391		2203	4300	6503	SO:0001819	synonymous_variant	3098				glucose transport|glycolysis|transmembrane transport	cytosol|mitochondrial outer membrane|nucleus	ATP binding|glucokinase activity	g.chr10:71055391T>C	M75126	CCDS7289.1, CCDS7290.1, CCDS7291.1, CCDS7292.1	10q22	2014-09-17			ENSG00000156515	ENSG00000156515	2.7.1.1		4922	protein-coding gene	gene with protein product		142600					Standard	NM_033496		Approved		uc001jpi.4	P19367	OTTHUMG00000018380	ENST00000448642.2:c.123T>C	10.37:g.71055391T>C						HK1_ENST00000404387.2_Silent_p.A10A|HK1_ENST00000360289.2_5'UTR	p.A41A			P19367	HXK1_HUMAN			6	512	+			0			Regulatory.		E9PCK0|O43443|O43444|O75574|Q5VTC3|Q96HC8|Q9NNZ4|Q9NNZ5	Silent	SNP	ENST00000448642.2	37	c.123T>C																																																																																					0.323	HK1-204	KNOWN	basic	protein_coding	protein_coding		NM_000188		7	56	0	0	0	1	0	7	56					C	71055391	T	C	71055391	2	2	435	1	0	0	0	0	0	0	0	1	7190	1509	53	4		4	HK1	10	71055391	Silent	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	52392	71055391	64479356	4719	25644											
HK1	3098	broad.mit.edu	37	chr10	71151991	71151991	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggggggcctttggggacaacGggtgtctggatgatatcagg	7	9	19	6	1	2	1	1	1	1	0	2	3	2	3	1	8	1	0	1	8	2	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:71151991G>A	ENST00000359426.6	+	15	2250	c.2146G>A	c.(2146-2148)Ggg>Agg	p.G716R	HK1_ENST00000404387.2_Missense_Mutation_p.G720R|HK1_ENST00000448642.2_Missense_Mutation_p.G751R|HK1_ENST00000360289.2_Missense_Mutation_p.G704R|HK1_ENST00000298649.3_Missense_Mutation_p.G715R	NM_000188.2	NP_000179.2	P19367	HXK1_HUMAN	hexokinase 1	716	Catalytic.|Hexokinase type-2 2.				carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|cell death (GO:0008219)|cellular glucose homeostasis (GO:0001678)|glucose 6-phosphate metabolic process (GO:0051156)|glucose transport (GO:0015758)|glycolytic process (GO:0006096)|hexose metabolic process (GO:0019318)|hexose transport (GO:0008645)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|fructokinase activity (GO:0008865)|glucokinase activity (GO:0004340)|hexokinase activity (GO:0004396)|mannokinase activity (GO:0019158)			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(14)|ovary(1)|urinary_tract(2)	35						TGGGGACAACGGGTGTCTGGA	0.547											OREG0020217	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000448642.2																			0				breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(14)|ovary(1)|urinary_tract(2)	35						c.(2251-2253)Ggg>Agg		hexokinase 1							102	92	96					10																	71151991		2203	4300	6503	SO:0001583	missense	3098				glucose transport|glycolysis|transmembrane transport	cytosol|mitochondrial outer membrane|nucleus	ATP binding|glucokinase activity	g.chr10:71151991G>A	M75126	CCDS7289.1, CCDS7290.1, CCDS7291.1, CCDS7292.1	10q22	2014-09-17			ENSG00000156515	ENSG00000156515	2.7.1.1		4922	protein-coding gene	gene with protein product		142600					Standard	NM_033496		Approved		uc001jpi.4	P19367	OTTHUMG00000018380	ENST00000359426.6:c.2146G>A	10.37:g.71151991G>A	ENSP00000352398:p.Gly716Arg		OREG0020217	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1127	HK1_ENST00000404387.2_Missense_Mutation_p.G720R|HK1_ENST00000298649.3_Missense_Mutation_p.G715R|HK1_ENST00000360289.2_Missense_Mutation_p.G704R|HK1_ENST00000359426.6_Missense_Mutation_p.G716R	p.G751R			P19367	HXK1_HUMAN			20	2640	+			716			Catalytic.		E9PCK0|O43443|O43444|O75574|Q5VTC3|Q96HC8|Q9NNZ4|Q9NNZ5	Missense_Mutation	SNP	ENST00000359426.6	37	c.2251G>A	CCDS7292.1	.	.	.	.	.	.	.	.	.	.	G	25.1	4.598687	0.87055	.	.	ENSG00000156515	ENST00000360289;ENST00000448642;ENST00000404387;ENST00000298649;ENST00000359426;ENST00000405407	D;D;D;D;D	0.96716	-4.1;-4.1;-4.1;-4.1;-4.1	4.51	4.51	0.55191	Hexokinase, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.98115	0.9378	M	0.82630	2.6	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;0.97	D;D;D;D;B	0.85130	0.995;0.997;0.993;0.987;0.304	D	0.99232	1.0882	10	0.87932	D	0	-26.0244	17.4058	0.87473	0.0:0.0:1.0:0.0	.	716;715;751;720;704	P19367;P19367-2;E7ENR4;P19367-3;P19367-4	HXK1_HUMAN;.;.;.;.	R	704;751;720;715;716;716	ENSP00000353433:G704R;ENSP00000402103:G751R;ENSP00000384774:G720R;ENSP00000298649:G715R;ENSP00000352398:G716R	ENSP00000298649:G715R	G	+	1	0	HK1	70821997	1.000000	0.71417	0.968000	0.41197	0.758000	0.43043	9.657000	0.98554	2.355000	0.79922	0.650000	0.86243	GGG		0.547	HK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048429.2	NM_000188		22	27	0	0	0	1	0	22	27					A	71151991	G	A	71151991	3	1	435	1	0	0	0	0	1	0	0	0	7190	1116	39	2	2382	2	HK1	10	71151991	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	96600	71151991	64382756	4720	25645											
HK1	3098	broad.mit.edu	37	chr10	71158559	71158559	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atgtgactgtgggagtggacGggacactctacaagcttcat	10	10	13	8	1	2	1	1	1	1	0	2	4	2	4	0	3	2	1	0	3	2	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:71158559G>A	ENST00000359426.6	+	17	2688	c.2584G>A	c.(2584-2586)Ggg>Agg	p.G862R	HK1_ENST00000404387.2_Missense_Mutation_p.G866R|HK1_ENST00000448642.2_Missense_Mutation_p.G897R|HK1_ENST00000360289.2_Missense_Mutation_p.G850R|HK1_ENST00000298649.3_Missense_Mutation_p.G861R	NM_000188.2	NP_000179.2	P19367	HXK1_HUMAN	hexokinase 1	862	Catalytic.|Glucose-6-phosphate 2 binding.|Hexokinase type-2 2.				carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|cell death (GO:0008219)|cellular glucose homeostasis (GO:0001678)|glucose 6-phosphate metabolic process (GO:0051156)|glucose transport (GO:0015758)|glycolytic process (GO:0006096)|hexose metabolic process (GO:0019318)|hexose transport (GO:0008645)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|fructokinase activity (GO:0008865)|glucokinase activity (GO:0004340)|hexokinase activity (GO:0004396)|mannokinase activity (GO:0019158)			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(14)|ovary(1)|urinary_tract(2)	35						GGGAGTGGACGGGACACTCTA	0.587																																						ENST00000448642.2																			0				breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(14)|ovary(1)|urinary_tract(2)	35						c.(2689-2691)Ggg>Agg		hexokinase 1							92	82	86					10																	71158559		2203	4300	6503	SO:0001583	missense	3098				glucose transport|glycolysis|transmembrane transport	cytosol|mitochondrial outer membrane|nucleus	ATP binding|glucokinase activity	g.chr10:71158559G>A	M75126	CCDS7289.1, CCDS7290.1, CCDS7291.1, CCDS7292.1	10q22	2014-09-17			ENSG00000156515	ENSG00000156515	2.7.1.1		4922	protein-coding gene	gene with protein product		142600					Standard	NM_033496		Approved		uc001jpi.4	P19367	OTTHUMG00000018380	ENST00000359426.6:c.2584G>A	10.37:g.71158559G>A	ENSP00000352398:p.Gly862Arg					HK1_ENST00000404387.2_Missense_Mutation_p.G866R|HK1_ENST00000298649.3_Missense_Mutation_p.G861R|HK1_ENST00000360289.2_Missense_Mutation_p.G850R|HK1_ENST00000359426.6_Missense_Mutation_p.G862R	p.G897R			P19367	HXK1_HUMAN			22	3078	+			862			Catalytic.		E9PCK0|O43443|O43444|O75574|Q5VTC3|Q96HC8|Q9NNZ4|Q9NNZ5	Missense_Mutation	SNP	ENST00000359426.6	37	c.2689G>A	CCDS7292.1	.	.	.	.	.	.	.	.	.	.	G	32	5.172164	0.94807	.	.	ENSG00000156515	ENST00000360289;ENST00000448642;ENST00000404387;ENST00000298649;ENST00000359426;ENST00000405407	D;D;D;D;D	0.99905	-7.7;-7.7;-7.7;-7.7;-7.7	5.48	5.48	0.80851	Hexokinase, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.99945	0.9976	H	0.99042	4.41	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;0.972	D;D;D;D;B	0.97110	1.0;1.0;1.0;1.0;0.119	D	0.96051	0.9031	10	0.87932	D	0	-24.9617	18.9341	0.92579	0.0:0.0:1.0:0.0	.	862;861;897;866;850	P19367;P19367-2;E7ENR4;P19367-3;P19367-4	HXK1_HUMAN;.;.;.;.	R	850;897;866;861;862;862	ENSP00000353433:G850R;ENSP00000402103:G897R;ENSP00000384774:G866R;ENSP00000298649:G861R;ENSP00000352398:G862R	ENSP00000298649:G861R	G	+	1	0	HK1	70828565	1.000000	0.71417	0.957000	0.39632	0.997000	0.91878	9.869000	0.99810	2.562000	0.86427	0.557000	0.71058	GGG		0.587	HK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048429.2	NM_000188		16	27	0	0	0	1	0	16	27					A	71158559	G	A	71158559	3	1	435	1	0	0	0	0	1	0	0	0	7190	1116	39	2	2828	2	HK1	10	71158559	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	6568	71158559	64376188	4721	25646											
TACR2	6865	broad.mit.edu	37	chr10	71174882	71174882	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgaggctggaaggggtggaCgatggccatgtacctgtgag	8	7	18	8	2	0	1	0	1	0	0	0	5	0	3	3	6	1	2	3	6	2	1	rs574436938		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:71174882C>T	ENST00000373306.4	-	2	949	c.406G>A	c.(406-408)Gtc>Atc	p.V136I		NM_001057.2	NP_001048.2	P21452	NK2R_HUMAN	tachykinin receptor 2	136					excretion (GO:0007588)|intestine smooth muscle contraction (GO:0014827)|muscle contraction (GO:0006936)|negative regulation of luteinizing hormone secretion (GO:0033685)|operant conditioning (GO:0035106)|positive regulation of acetylcholine secretion, neurotransmission (GO:0014057)|positive regulation of uterine smooth muscle contraction (GO:0070474)|positive regulation of vascular permeability (GO:0043117)|prolactin secretion (GO:0070459)|tachykinin receptor signaling pathway (GO:0007217)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	substance K receptor activity (GO:0016497)|tachykinin receptor activity (GO:0004995)			endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	11						AAGGGGTGGACGATGGCCATG	0.642																																						ENST00000373306.4																			0				endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	11						c.(406-408)Gtc>Atc		tachykinin receptor 2	Clonidine(DB00575)|Octreotide(DB00104)						90	66	74					10																	71174882		2203	4300	6503	SO:0001583	missense	6865				excretion|muscle contraction	integral to plasma membrane	tachykinin receptor activity	g.chr10:71174882C>T		CCDS7293.1	10q22.1	2012-09-20			ENSG00000075073	ENSG00000075073		"GPCR / Class A : Tachykinin receptors"	11527	protein-coding gene	gene with protein product		162321		TAC2R, NKNAR			Standard	NM_001057		Approved	SKR, NK2R	uc001jpn.2	P21452	OTTHUMG00000018377	ENST00000373306.4:c.406G>A	10.37:g.71174882C>T	ENSP00000362403:p.Val136Ile						p.V136I	NM_001057.2	NP_001048.2	P21452	NK2R_HUMAN			2	949	-			136					A8K7I1|Q4QRI5|Q8NGQ8|Q9UDE6|Q9UDE7	Missense_Mutation	SNP	ENST00000373306.4	37	c.406G>A	CCDS7293.1	.	.	.	.	.	.	.	.	.	.	C	8.478	0.859002	0.17178	.	.	ENSG00000075073	ENST00000373306	T	0.19806	2.12	5.21	4.08	0.47627	GPCR, rhodopsin-like superfamily (1);	0.207686	0.39475	N	0.001352	T	0.05593	0.0147	N	0.01789	-0.72	0.42720	D	0.993677	B	0.30584	0.286	B	0.32533	0.147	T	0.38714	-0.9648	10	0.02654	T	1	.	3.866	0.09016	0.0:0.6569:0.0:0.343	.	136	P21452	NK2R_HUMAN	I	136	ENSP00000362403:V136I	ENSP00000362403:V136I	V	-	1	0	TACR2	70844888	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	4.726000	0.61986	2.612000	0.88384	0.561000	0.74099	GTC		0.642	TACR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048411.1			9	20	0	0	0	1	0	9	20					T	71174882	C	T	71174882	3	4	435	1	0	0	0	0	1	0	0	0	15503	536	19	1	806	1	TACR2	10	71174882	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	16323	71174882	64359865	4722	25647											
NEUROG3	50674	broad.mit.edu	37	chr10	71332424	71332424	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gatgtagttgtgggcgaagcGcagcgtctcgatcttggtga	7	11	16	7	4	2	1	0	1	2	0	3	4	2	1	0	2	2	3	0	2	2	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:71332424G>A	ENST00000242462.4	-	2	405	c.376C>T	c.(376-378)Cgc>Tgc	p.R126C		NM_020999.3	NP_066279.2	Q9Y4Z2	NGN3_HUMAN	neurogenin 3	126	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				central nervous system development (GO:0007417)|endocrine pancreas development (GO:0031018)|epithelial cell differentiation (GO:0030855)|forebrain development (GO:0030900)|hindbrain development (GO:0030902)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|peripheral nervous system development (GO:0007422)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of dendrite morphogenesis (GO:0048814)|spinal cord development (GO:0021510)|transdifferentiation (GO:0060290)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|double-stranded DNA binding (GO:0003690)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|transcription coactivator activity (GO:0003713)	p.R126C(1)		endometrium(4)|large_intestine(2)|lung(6)|prostate(1)	13						TGGGCGAAGCGCAGCGTCTCG	0.652																																						ENST00000242462.4																			1	Substitution - Missense(1)	p.R126C(1)	large_intestine(1)	endometrium(4)|large_intestine(2)|lung(6)|prostate(1)	13						c.(376-378)Cgc>Tgc		neurogenin 3							86	72	77					10																	71332424		2203	4300	6503	SO:0001583	missense	50674				central nervous system development|endocrine pancreas development|peripheral nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity	nucleus	transcription coactivator activity	g.chr10:71332424G>A	AJ133776	CCDS31212.1	10q21.3	2013-05-21			ENSG00000122859	ENSG00000122859		"Basic helix-loop-helix proteins"	13806	protein-coding gene	gene with protein product		604882				9000438, 10677506	Standard	NM_020999		Approved	Atoh5, Math4B, ngn3, bHLHa7	uc001jpp.3	Q9Y4Z2	OTTHUMG00000018391	ENST00000242462.4:c.376C>T	10.37:g.71332424G>A	ENSP00000242462:p.Arg126Cys						p.R126C	NM_020999.3	NP_066279.2	Q9Y4Z2	NGN3_HUMAN			2	405	-			126			Helix-loop-helix motif.		Q5VVI0|Q6DJX6|Q9BY24	Missense_Mutation	SNP	ENST00000242462.4	37	c.376C>T	CCDS31212.1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.257390	0.80246	.	.	ENSG00000122859	ENST00000242462	D	0.98280	-4.84	4.62	4.62	0.57501	Helix-loop-helix DNA-binding (5);	0.000000	0.41712	D	0.000825	D	0.99290	0.9752	H	0.97806	4.08	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98574	1.0647	10	0.87932	D	0	-20.2816	11.441	0.50096	0.0:0.0:0.8197:0.1803	.	126	Q9Y4Z2	NGN3_HUMAN	C	126	ENSP00000242462:R126C	ENSP00000242462:R126C	R	-	1	0	NEUROG3	71002430	1.000000	0.71417	1.000000	0.80357	0.799000	0.45148	4.236000	0.58675	2.355000	0.79922	0.655000	0.94253	CGC		0.652	NEUROG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048464.1	NM_020999		7	32	0	0	0	1	0	7	32					A	71332424	G	A	71332424	3	1	435	1	0	0	0	0	1	0	0	0	10354	1087	38	1	272	1	NEUROG3	10	71332424	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	157542	71332424	64202323	4723	25648											
AIFM2	84883	broad.mit.edu	37	chr10	71874699	71874699	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcttgtaggcctggagaggcCgctgcttcacagagttgacg	7	9	15	10	2	1	3	1	1	0	2	1	4	1	3	2	3	1	5	2	3	1	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:71874699C>T	ENST00000307864.1	-	8	1160	c.947G>A	c.(946-948)cGg>cAg	p.R316Q	AIFM2_ENST00000373248.1_Missense_Mutation_p.R316Q|AIFM2_ENST00000482166.1_5'UTR	NM_001198696.1|NM_032797.5	NP_001185625.1|NP_116186.1	Q9BRQ8	AIFM2_HUMAN	apoptosis-inducing factor, mitochondrion-associated, 2	316					apoptotic mitochondrial changes (GO:0008637)|positive regulation of apoptotic process (GO:0043065)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|lipid particle (GO:0005811)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	DNA binding (GO:0003677)|electron-transferring-flavoprotein dehydrogenase activity (GO:0004174)|flavin adenine dinucleotide binding (GO:0050660)|NADH dehydrogenase (ubiquinone) activity (GO:0008137)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)|skin(2)|urinary_tract(2)	16						CTGGAGAGGCCGCTGCTTCAC	0.562																																						ENST00000307864.1																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)|skin(2)|urinary_tract(2)	16						c.(946-948)cGg>cAg		apoptosis-inducing factor, mitochondrion-associated, 2							43	38	40					10																	71874699		2203	4300	6503	SO:0001583	missense	84883				apoptotic mitochondrial changes|chromosome condensation|induction of apoptosis	cytosol|integral to membrane|mitochondrial outer membrane	DNA binding|electron-transferring-flavoprotein dehydrogenase activity|flavin adenine dinucleotide binding	g.chr10:71874699C>T	AK027403	CCDS7297.1	10q22.2	2006-11-16	2006-11-16	2006-11-16	ENSG00000042286	ENSG00000042286			21411	protein-coding gene	gene with protein product		605159	"apoptosis-inducing factor (AIF)-like mitochondrion-associated inducer of death"	AMID		12135761, 11980907, 15958387	Standard	NM_001198696		Approved	FLJ14497, PRG3	uc001jqp.2	Q9BRQ8	OTTHUMG00000018398	ENST00000307864.1:c.947G>A	10.37:g.71874699C>T	ENSP00000312370:p.Arg316Gln					AIFM2_ENST00000373248.1_Missense_Mutation_p.R316Q|AIFM2_ENST00000482166.1_5'UTR	p.R316Q	NM_001198696.1|NM_032797.5	NP_001185625.1|NP_116186.1	Q9BRQ8	AIFM2_HUMAN			8	1160	-			316					B3KXI0|Q63Z39	Missense_Mutation	SNP	ENST00000307864.1	37	c.947G>A	CCDS7297.1	.	.	.	.	.	.	.	.	.	.	C	12.20	1.866994	0.32977	.	.	ENSG00000042286	ENST00000373248;ENST00000307864;ENST00000395039	T;T	0.30182	1.54;1.54	5.8	3.72	0.42706	.	0.247619	0.45606	D	0.000352	T	0.15739	0.0379	N	0.19112	0.55	0.31366	N	0.680805	B	0.17268	0.021	B	0.13407	0.009	T	0.06625	-1.0816	10	0.31617	T	0.26	-32.1571	3.4834	0.07610	0.0:0.5448:0.2782:0.177	.	316	Q9BRQ8	AIFM2_HUMAN	Q	316;316;279	ENSP00000362345:R316Q;ENSP00000312370:R316Q	ENSP00000312370:R316Q	R	-	2	0	AIFM2	71544705	1.000000	0.71417	1.000000	0.80357	0.010000	0.07245	2.032000	0.41127	1.454000	0.47793	0.563000	0.77884	CGG		0.562	AIFM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048487.1	NM_032797		5	15	0	0	0	1	0	5	15					T	71874699	C	T	71874699	3	4	435	1	0	0	0	0	1	0	0	0	427	652	23	2	182	2	AIFM2	10	71874699	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	542275	71874699	63660048	4724	25649											
EIF4EBP2	1979	broad.mit.edu	37	chr10	72179743	72179743	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	atggctcagaccccaccctgCcacctgcccaatatcccagg	9	6	7	19	0	1	1	1	0	0	1	2	1	2	1	7	2	2	1	7	2	2	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:72179743C>T	ENST00000373218.4	+	2	242	c.219C>T	c.(217-219)tgC>tgT	p.C73C		NM_004096.4	NP_004087.1	Q13542	4EBP2_HUMAN	eukaryotic translation initiation factor 4E binding protein 2	73					cAMP-mediated signaling (GO:0019933)|insulin receptor signaling pathway (GO:0008286)|negative regulation of translational initiation (GO:0045947)|translation (GO:0006412)					large_intestine(1)	1						CCCCACCCTGCCACCTGCCCA	0.448																																						ENST00000373218.4																			0				large_intestine(1)	1						c.(217-219)tgC>tgT		eukaryotic translation initiation factor 4E binding protein 2							85	84	85					10																	72179743		2203	4300	6503	SO:0001819	synonymous_variant	1979				negative regulation of translational initiation|translation		eukaryotic initiation factor 4E binding	g.chr10:72179743C>T		CCDS7303.1	10q21-q22	2008-08-01			ENSG00000148730	ENSG00000148730			3289	protein-coding gene	gene with protein product		602224				7935836, 8975712	Standard	NM_004096		Approved		uc001jrb.3	Q13542	OTTHUMG00000018409	ENST00000373218.4:c.219C>T	10.37:g.72179743C>T							p.C73C	NM_004096.4	NP_004087.1	Q13542	4EBP2_HUMAN			2	242	+			73						Silent	SNP	ENST00000373218.4	37	c.219C>T	CCDS7303.1																																																																																				0.448	EIF4EBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048513.1	NM_004096		37	40	0	0	0	1	0	37	40					T	72179743	C	T	72179743	2	4	435	1	0	0	0	0	0	0	0	1	5033	747	26	3		3	EIF4EBP2	10	72179743	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	305044	72179743	63355004	4725	25650											
NODAL	4838	broad.mit.edu	37	chr10	72192802	72192802	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtcttcactggggcacaacAagtggaagggactcggtggg	9	7	17	8	1	2	0	1	0	1	0	3	2	2	2	0	7	1	1	0	7	3	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:72192802A>G	ENST00000287139.3	-	3	933	c.934T>C	c.(934-936)Tgt>Cgt	p.C312R	AC022532.1_ENST00000420338.2_5'Flank	NM_018055.4	NP_060525.3	Q96S42	NODAL_HUMAN	nodal growth differentiation factor	312					axial mesodermal cell fate specification (GO:0048327)|brain development (GO:0007420)|cell migration involved in gastrulation (GO:0042074)|digestive tract morphogenesis (GO:0048546)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic pattern specification (GO:0009880)|embryonic placenta development (GO:0001892)|embryonic process involved in female pregnancy (GO:0060136)|endodermal cell differentiation (GO:0035987)|epiblast cell-extraembryonic ectoderm cell signaling involved in anterior/posterior axis specification (GO:0060802)|floor plate morphogenesis (GO:0033505)|formation of anatomical boundary (GO:0048859)|growth (GO:0040007)|heart looping (GO:0001947)|inhibition of neuroepithelial cell differentiation (GO:0002085)|left lung morphogenesis (GO:0060460)|liver development (GO:0001889)|maternal placenta development (GO:0001893)|maternal process involved in parturition (GO:0060137)|mesendoderm development (GO:0048382)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of chorionic trophoblast cell proliferation (GO:1901383)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of trophoblast cell migration (GO:1901164)|neural fold formation (GO:0001842)|nodal signaling pathway involved in determination of lateral mesoderm left/right asymmetry (GO:1900164)|placenta development (GO:0001890)|polarity specification of proximal/distal axis (GO:0010085)|positive regulation of activin receptor signaling pathway (GO:0032927)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of nodal signaling pathway involved in determination of lateral mesoderm left/right asymmetry (GO:1900224)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of gastrulation (GO:0010470)|regulation of stem cell maintenance (GO:2000036)|SMAD protein signal transduction (GO:0060395)|stem cell maintenance (GO:0019827)|transforming growth factor beta receptor signaling pathway involved in primitive streak formation (GO:0090010)|trophectodermal cellular morphogenesis (GO:0001831)|vasculature development (GO:0001944)	extracellular space (GO:0005615)	morphogen activity (GO:0016015)|type I activin receptor binding (GO:0070698)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(2)	15						GGGGCACAACAAGTGGAAGGG	0.498																																						ENST00000287139.3																			0				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(2)	15						c.(934-936)Tgt>Cgt		nodal growth differentiation factor							205	182	190					10																	72192802		2203	4300	6503	SO:0001583	missense	4838				growth	extracellular space	cytokine activity|growth factor activity	g.chr10:72192802A>G	BC033585	CCDS7304.1	10q22.1	2012-12-07	2012-12-07		ENSG00000156574	ENSG00000156574			7865	protein-coding gene	gene with protein product		601265	"nodal, mouse, homolog", "nodal homolog (mouse)"			9354794	Standard	NM_018055		Approved		uc001jrc.2	Q96S42	OTTHUMG00000018408	ENST00000287139.3:c.934T>C	10.37:g.72192802A>G	ENSP00000287139:p.Cys312Arg						p.C312R	NM_018055.4	NP_060525.3	Q96S42	NODAL_HUMAN			3	933	-			312					Q2M3A5|Q8N4V3	Missense_Mutation	SNP	ENST00000287139.3	37	c.934T>C	CCDS7304.1	.	.	.	.	.	.	.	.	.	.	A	13.31	2.199161	0.38806	.	.	ENSG00000156574	ENST00000287139;ENST00000414871	D;D	0.95069	-3.6;-3.6	5.84	5.84	0.93424	Transforming growth factor-beta, C-terminal (3);	0.092704	0.85682	D	0.000000	D	0.97670	0.9236	M	0.90483	3.12	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.98523	1.0624	10	0.87932	D	0	.	15.1984	0.73116	1.0:0.0:0.0:0.0	.	312	Q96S42	NODAL_HUMAN	R	312;257	ENSP00000287139:C312R;ENSP00000394468:C257R	ENSP00000287139:C312R	C	-	1	0	NODAL	71862808	0.998000	0.40836	0.998000	0.56505	0.915000	0.54546	4.554000	0.60760	2.243000	0.73865	0.533000	0.62120	TGT		0.498	NODAL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048511.1	NM_018055		37	46	0	0	0	1	0	37	46					G	72192802	A	G	72192802	3	3	435	1	0	0	0	0	1	0	0	0	10518	130	5	4	113	4	NODAL	10	72192802	Missense_Mutation	SNP	A	TCGA-XK-AAIW-01A-11D-A41K-08	13059	72192802	63341945	4726	25651											
PRF1	5551	broad.mit.edu	37	chr10	72358201	72358201	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gaaccagtccccccacaggcCccatgcttggatgaaggtca	10	6	10	15	0	1	1	1	1	0	0	2	3	2	2	6	3	2	1	6	3	2	1	rs1042652		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:72358201C>A	ENST00000441259.1	-	3	1436	c.1276G>T	c.(1276-1278)Ggc>Tgc	p.G426C	PRF1_ENST00000373209.2_Missense_Mutation_p.G426C	NM_001083116.1|NM_005041.4	NP_001076585.1|NP_005032.2	P14222	PERF_HUMAN	perforin 1 (pore forming protein)	426	C2. {ECO:0000255|PROSITE- ProRule:PRU00041}.			G -> S (in Ref. 1; CAA31612). {ECO:0000305}.	apoptotic process (GO:0006915)|cellular defense response (GO:0006968)|cytolysis (GO:0019835)|defense response to tumor cell (GO:0002357)|defense response to virus (GO:0051607)|immune response to tumor cell (GO:0002418)|protein homooligomerization (GO:0051260)|transmembrane transport (GO:0055085)	cytolytic granule (GO:0044194)|cytoplasmic membrane-bounded vesicle (GO:0016023)|endosome (GO:0005768)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|wide pore channel activity (GO:0022829)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(3)|urinary_tract(3)	23						CCCCACAGGCCCCATGCTTGG	0.622			M			"various leukaemia, lymphoma"	Type 2 familial hemophagocytic lymphohistiocytosis		Familial Hemophagocytic Lymphohistiocytosis																													ENST00000441259.1			yes	Rec			10	10q22	5551	M	perforin 1 (pore forming protein)		Type 2 familial hemophagocytic lymphohistiocytosis	L		"various leukaemia, lymphoma"			0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(3)|urinary_tract(3)	23						c.(1276-1278)Ggc>Tgc		perforin 1 (pore forming protein)							38	36	37					10																	72358201		2203	4300	6503	SO:0001583	missense	5551	Familial Hemophagocytic Lymphohistiocytosis	Familial Cancer Database	FHLH, FHL, Familial Hemophagocytic Reticulosis, FHR	apoptosis|cellular defense response|cytolysis|defense response to tumor cell|defense response to virus|immune response to tumor cell|protein homooligomerization	cytolytic granule|endosome lumen|extracellular region|integral to membrane|plasma membrane	calcium ion binding|protein binding|wide pore channel activity	g.chr10:72358201C>A	BC047695	CCDS7305.1	10q22	2014-09-17			ENSG00000180644	ENSG00000180644			9360	protein-coding gene	gene with protein product	"Perforin", "perforin 1 (preforming protein)"	170280				1505959, 2592021	Standard	NM_005041		Approved	PFP, P1, HPLH2	uc001jrf.4	P14222	OTTHUMG00000018412	ENST00000441259.1:c.1276G>T	10.37:g.72358201C>A	ENSP00000398568:p.Gly426Cys					PRF1_ENST00000373209.2_Missense_Mutation_p.G426C	p.G426C	NM_001083116.1|NM_005041.4	NP_001076585.1|NP_005032.2	P14222	PERF_HUMAN			3	1436	-			426	G -> S (in Ref. 1; CAA31612).		C2.		B2R6X4|Q59F57|Q86WX7	Missense_Mutation	SNP	ENST00000441259.1	37	c.1276G>T	CCDS7305.1	.	.	.	.	.	.	.	.	.	.	C	11.19	1.565657	0.27915	.	.	ENSG00000180644	ENST00000373209;ENST00000441259;ENST00000318971	D;D	0.96232	-3.95;-3.95	5.7	-3.36	0.04913	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.596307	0.19633	N	0.109632	D	0.97745	0.9260	H	0.94925	3.6	0.09310	N	1	D	0.65815	0.995	D	0.66084	0.941	D	0.94266	0.7506	10	0.72032	D	0.01	-0.5096	7.723	0.28744	0.0:0.4382:0.1038:0.458	.	426	P14222	PERF_HUMAN	C	426	ENSP00000362305:G426C;ENSP00000398568:G426C	ENSP00000316746:G426C	G	-	1	0	PRF1	72028207	0.000000	0.05858	0.000000	0.03702	0.036000	0.12997	0.547000	0.23299	-0.705000	0.05035	-0.471000	0.05019	GGC		0.622	PRF1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048517.2	NM_005041		11	9	1	0	3.07112e-06	1	3.18879e-06	11	9					A	72358201	C	A	72358201	3	1	435	1	0	0	0	0	1	0	0	0	12478	623	22	5	395	5	PRF1	10	72358201	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	165399	72358201	63176546	4727	25652											
ADAMTS14	140766	broad.mit.edu	37	chr10	72489064	72489064	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ttgcaggtagatgagatttaCcacgatgagtccctgggggt	9	11	14	7	1	0	3	0	2	0	2	1	5	1	3	2	3	2	2	2	3	2	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:72489064C>T	ENST00000373207.1	+	5	885	c.885C>T	c.(883-885)taC>taT	p.Y295Y	ADAMTS14_ENST00000373208.1_Silent_p.Y295Y	NM_080722.3	NP_542453.2	Q8WXS8	ATS14_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 14	295	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(15)|ovary(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						ATGAGATTTACCACGATGAGT	0.468																																						ENST00000373208.1																			0				NS(1)|autonomic_ganglia(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(15)|ovary(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						c.(883-885)taC>taT		ADAM metallopeptidase with thrombospondin type 1 motif, 14							114	109	110					10																	72489064		2203	4300	6503	SO:0001819	synonymous_variant	140766				collagen catabolic process|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr10:72489064C>T	AF358666	CCDS7306.1, CCDS7307.1	10q21	2008-08-01	2005-08-19		ENSG00000138316	ENSG00000138316		"ADAM metallopeptidases with thrombospondin type 1 motif"	14899	protein-coding gene	gene with protein product		607506	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 14"			11779638	Standard	NM_139155		Approved		uc001jrg.3	Q8WXS8	OTTHUMG00000018414	ENST00000373207.1:c.885C>T	10.37:g.72489064C>T						ADAMTS14_ENST00000373207.1_Silent_p.Y295Y	p.Y295Y	NM_139155.2	NP_631894.2	Q8WXS8	ATS14_HUMAN			5	885	+			295			Peptidase M12B.		Q5T4G0|Q5T4G1|Q8TE55|Q8TEY8	Silent	SNP	ENST00000373207.1	37	c.885C>T	CCDS7306.1																																																																																				0.468	ADAMTS14-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000048522.1	NM_080722		24	50	0	0	0	1	0	24	50					T	72489064	C	T	72489064	2	4	435	1	0	0	0	0	0	0	0	1	259	518	18	3		3	ADAMTS14	10	72489064	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	130863	72489064	63045683	4728	25653											
C10orf27	219793	broad.mit.edu	37	chr10	72531147	72531147	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcccctcagctctctgccctCggcttcgatgtcttcttctc	2	14	7	18	2	5	0	1	0	4	0	9	1	5	0	3	1	2	2	3	1	0	3	rs145511092		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:72531147C>T	ENST00000299290.1	-	11	1430	c.1041G>A	c.(1039-1041)ccG>ccA	p.P347P	TBATA_ENST00000394982.2_5'UTR	NM_152710.2	NP_689923	Q96M53	TBATA_HUMAN	thymus, brain and testes associated	347					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytosol (GO:0005829)|nucleus (GO:0005634)											TCTCTGCCCTCGGCTTCGATG	0.552																																						ENST00000299290.1																			0											c.(1039-1041)ccG>ccA		thymus, brain and testes associated				1,4405	2.1+/-5.4	0,1,2202	184	173	176		1041	-4.4	0	10	dbSNP_134	176	0,8600		0,0,4300	no	coding-synonymous	C10orf27	NM_152710.2		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		347/352	72531147	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	219793							g.chr10:72531147C>T	AK057382	CCDS7308.1	10q22.2	2012-05-23	2012-05-23	2012-05-23	ENSG00000166220	ENSG00000166220			23511	protein-coding gene	gene with protein product		612640	"chromosome 10 open reading frame 27"	C10orf27		20937703	Standard	NM_152710		Approved	FLJ32820, spatial	uc001jrj.1	Q96M53	OTTHUMG00000018413	ENST00000299290.1:c.1041G>A	10.37:g.72531147C>T						TBATA_ENST00000394982.2_5'UTR	p.P347P	NM_152710.2	NP_689923.2					11	1430	-								A4QPA8|B2RPQ2|Q5T4G2	Silent	SNP	ENST00000299290.1	37	c.1041G>A	CCDS7308.1	.	.	.	.	.	.	.	.	.	.	c	9.010	0.982357	0.18889	2.27E-4	0.0	ENSG00000166220	ENST00000394982	.	.	.	4.0	-4.37	0.03633	.	.	.	.	.	T	0.26048	0.0635	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.39860	-0.9593	5	0.87932	D	0	-1.2323	1.2496	0.01980	0.1514:0.3263:0.1537:0.3686	.	.	.	.	K	68	.	ENSP00000378433:E68K	E	-	1	0	C10orf27	72201153	0.001000	0.12720	0.011000	0.14972	0.005000	0.04900	-0.147000	0.10234	-0.568000	0.06038	-0.482000	0.04802	GAG		0.552	TBATA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048519.1	NM_152710		47	66	0	0	0	1	0	47	66					T	72531147	C	T	72531147	2	4	435	1	0	0	0	0	0	0	0	1	1600	871	31	2		2	C10orf27	10	72531147	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	42083	72531147	63003600	4729	25654											
SGPL1	8879	broad.mit.edu	37	chr10	72636336	72636336	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	attactacacgcccggaaacGagtagctatacaattcctaa	15	9	6	11	3	0	0	0	0	0	0	1	2	1	1	2	1	5	2	2	1	8	7			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:72636336G>A	ENST00000373202.3	+	14	1684	c.1484G>A	c.(1483-1485)cGa>cAa	p.R495Q		NM_003901.3	NP_003892.2	O95470	SGPL1_HUMAN	sphingosine-1-phosphate lyase 1	495					androgen metabolic process (GO:0008209)|apoptotic signaling pathway (GO:0097190)|ceramide metabolic process (GO:0006672)|estrogen metabolic process (GO:0008210)|face morphogenesis (GO:0060325)|fatty acid metabolic process (GO:0006631)|fibroblast migration (GO:0010761)|hemopoiesis (GO:0030097)|kidney development (GO:0001822)|Leydig cell differentiation (GO:0033327)|luteinization (GO:0001553)|palate development (GO:0060021)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|post-embryonic development (GO:0009791)|regulation of multicellular organism growth (GO:0040014)|skeletal system morphogenesis (GO:0048705)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid catabolic process (GO:0030149)|sphingolipid metabolic process (GO:0006665)|vasculogenesis (GO:0001570)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)	carboxy-lyase activity (GO:0016831)|pyridoxal phosphate binding (GO:0030170)|sphinganine-1-phosphate aldolase activity (GO:0008117)			large_intestine(4)	4						GCCCGGAAACGAGTAGCTATA	0.393																																					Colon(151;1054 2458 6676 40971)	ENST00000373202.3																			0				large_intestine(4)	4						c.(1483-1485)cGa>cAa		sphingosine-1-phosphate lyase 1	Pyridoxal Phosphate(DB00114)						102	97	99					10																	72636336		2203	4300	6503	SO:0001583	missense	8879				apoptosis|carboxylic acid metabolic process|ceramide metabolic process|sphingolipid catabolic process	integral to endoplasmic reticulum membrane	carboxy-lyase activity|pyridoxal phosphate binding|sphinganine-1-phosphate aldolase activity	g.chr10:72636336G>A	AI128825	CCDS31216.1	10q21	2008-08-01			ENSG00000166224	ENSG00000166224			10817	protein-coding gene	gene with protein product		603729				9464245, 17090686	Standard	NM_003901		Approved	SPL	uc001jrm.3	O95470	OTTHUMG00000018421	ENST00000373202.3:c.1484G>A	10.37:g.72636336G>A	ENSP00000362298:p.Arg495Gln						p.R495Q	NM_003901.3	NP_003892.2	O95470	SGPL1_HUMAN			14	1684	+			495					B2RBD4|Q7Z732|Q9ULG8|Q9UN89	Missense_Mutation	SNP	ENST00000373202.3	37	c.1484G>A	CCDS31216.1	.	.	.	.	.	.	.	.	.	.	G	16.35	3.097952	0.56183	.	.	ENSG00000166224	ENST00000373202	T	0.42513	0.97	5.6	3.41	0.39046	Pyridoxal phosphate-dependent transferase, major domain (1);	0.116916	0.64402	D	0.000009	T	0.28863	0.0716	N	0.20685	0.6	0.33663	D	0.609945	B	0.12013	0.005	B	0.09377	0.004	T	0.38286	-0.9668	10	0.52906	T	0.07	-3.973	13.4649	0.61247	0.1493:0.0:0.8507:0.0	.	495	O95470	SGPL1_HUMAN	Q	495	ENSP00000362298:R495Q	ENSP00000362298:R495Q	R	+	2	0	SGPL1	72306342	1.000000	0.71417	0.995000	0.50966	0.588000	0.36517	3.890000	0.56220	1.376000	0.46267	0.557000	0.71058	CGA		0.393	SGPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048533.1	NM_003901		32	51	0	0	0	1	0	32	51					A	72636336	G	A	72636336	3	1	435	1	0	0	0	0	1	0	0	0	14218	1058	37	2	1534	2	SGPL1	10	72636336	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	105189	72636336	62898411	4730	25655											
UNC5B	219699	broad.mit.edu	37	chr10	73055655	73055655	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aggacagttaccacaacctgCgcctctccctccatgacctc	9	8	6	18	1	1	1	0	1	1	0	4	2	2	2	6	1	3	1	6	1	2	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:73055655C>T	ENST00000335350.6	+	14	2679	c.2263C>T	c.(2263-2265)Cgc>Tgc	p.R755C	UNC5B_ENST00000373192.4_Missense_Mutation_p.R744C	NM_170744.4	NP_734465.2	Q8IZJ1	UNC5B_HUMAN	unc-5 homolog B (C. elegans)	755	UPA domain. {ECO:0000250}.				anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of apoptotic process (GO:0043065)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)		p.R755C(1)		breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(4)|skin(4)	49						CCACAACCTGCGCCTCTCCCT	0.617																																						ENST00000335350.6																			1	Substitution - Missense(1)	p.R755C(1)	haematopoietic_and_lymphoid_tissue(1)	breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(4)|skin(4)	49						c.(2263-2265)Cgc>Tgc		unc-5 homolog B (C. elegans)							145	112	123					10																	73055655		2203	4300	6503	SO:0001583	missense	219699				apoptosis|axon guidance|regulation of apoptosis	integral to membrane		g.chr10:73055655C>T	AB096256	CCDS7309.1, CCDS58083.1	10q22.2	2013-01-11	2001-11-28		ENSG00000107731	ENSG00000107731		"Immunoglobulin superfamily / I-set domain containing"	12568	protein-coding gene	gene with protein product		607870	"unc5 (C.elegans homolog) b"				Standard	NM_170744		Approved	UNC5H2, p53RDL1	uc001jro.3	Q8IZJ1	OTTHUMG00000018422	ENST00000335350.6:c.2263C>T	10.37:g.73055655C>T	ENSP00000334329:p.Arg755Cys					UNC5B_ENST00000373192.4_Missense_Mutation_p.R744C	p.R755C	NM_170744.4	NP_734465.2	Q8IZJ1	UNC5B_HUMAN			14	2679	+			755					Q5T3R9|Q5T3S0|Q86SN3|Q8N1Y2|Q9H9F3	Missense_Mutation	SNP	ENST00000335350.6	37	c.2263C>T	CCDS7309.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.110795	0.77210	.	.	ENSG00000107731	ENST00000335350;ENST00000373192	T;T	0.48201	0.89;0.82	4.7	4.7	0.59300	.	0.000000	0.85682	D	0.000000	T	0.55924	0.1951	L	0.33189	0.99	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.68621	0.959;0.934	T	0.47923	-0.9079	10	0.19147	T	0.46	-37.7918	17.8363	0.88699	0.0:1.0:0.0:0.0	.	744;755	Q8IZJ1-2;Q8IZJ1	.;UNC5B_HUMAN	C	755;744	ENSP00000334329:R755C;ENSP00000362288:R744C	ENSP00000334329:R755C	R	+	1	0	UNC5B	72725661	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.569000	0.60865	2.437000	0.82529	0.591000	0.81541	CGC		0.617	UNC5B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048541.1	NM_170744		3	24	0	0	0	1	0	3	24					T	73055655	C	T	73055655	3	4	435	1	0	0	0	0	1	0	0	0	16989	768	27	1	2317	1	UNC5B	10	73055655	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	419319	73055655	62479092	4731	25656											
UNC5B	219699	broad.mit.edu	37	chr10	73055702	73055702	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcccattggaggagcaagctGctggccaaataccaggtgag	11	6	14	10	0	0	1	0	1	0	0	0	3	0	3	3	4	4	3	3	4	3	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:73055702G>A	ENST00000335350.6	+	14	2726	c.2310G>A	c.(2308-2310)ctG>ctA	p.L770L	UNC5B_ENST00000373192.4_Silent_p.L759L	NM_170744.4	NP_734465.2	Q8IZJ1	UNC5B_HUMAN	unc-5 homolog B (C. elegans)	770	UPA domain. {ECO:0000250}.				anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of apoptotic process (GO:0043065)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(4)|skin(4)	49						GGAGCAAGCTGCTGGCCAAAT	0.627																																						ENST00000335350.6																			0				breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(4)|skin(4)	49						c.(2308-2310)ctG>ctA		unc-5 homolog B (C. elegans)							91	77	82					10																	73055702		2203	4300	6503	SO:0001819	synonymous_variant	219699				apoptosis|axon guidance|regulation of apoptosis	integral to membrane		g.chr10:73055702G>A	AB096256	CCDS7309.1, CCDS58083.1	10q22.2	2013-01-11	2001-11-28		ENSG00000107731	ENSG00000107731		"Immunoglobulin superfamily / I-set domain containing"	12568	protein-coding gene	gene with protein product		607870	"unc5 (C.elegans homolog) b"				Standard	NM_170744		Approved	UNC5H2, p53RDL1	uc001jro.3	Q8IZJ1	OTTHUMG00000018422	ENST00000335350.6:c.2310G>A	10.37:g.73055702G>A						UNC5B_ENST00000373192.4_Silent_p.L759L	p.L770L	NM_170744.4	NP_734465.2	Q8IZJ1	UNC5B_HUMAN			14	2726	+			770					Q5T3R9|Q5T3S0|Q86SN3|Q8N1Y2|Q9H9F3	Silent	SNP	ENST00000335350.6	37	c.2310G>A	CCDS7309.1																																																																																				0.627	UNC5B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048541.1	NM_170744		12	18	0	0	0	1	0	12	18					A	73055702	G	A	73055702	2	1	435	1	0	0	0	0	0	0	0	1	16989	1306	46	3		3	UNC5B	10	73055702	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	47	73055702	62479045	4732	25657											
SLC29A3	55315	broad.mit.edu	37	chr10	73103989	73103989	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tactttgagagctaccttgcCgttgcctccaccgtgccctc	5	12	8	16	2	0	1	0	1	0	1	2	2	1	1	6	0	6	2	6	0	2	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:73103989C>T	ENST00000373189.5	+	3	376	c.324C>T	c.(322-324)gcC>gcT	p.A108A		NM_001174098.1|NM_018344.5	NP_001167569.1|NP_060814.4	Q9BZD2	S29A3_HUMAN	solute carrier family 29 (equilibrative nucleoside transporter), member 3	108					transmembrane transport (GO:0055085)	endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	nucleoside transmembrane transporter activity (GO:0005337)			endometrium(3)|kidney(2)|large_intestine(3)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	15						GCTACCTTGCCGTTGCCTCCA	0.592																																					Esophageal Squamous(200;1319 2142 18949 31248 39672)	ENST00000373189.5																			0				endometrium(3)|kidney(2)|large_intestine(3)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	15						c.(322-324)gcC>gcT		solute carrier family 29 (equilibrative nucleoside transporter), member 3							263	174	204					10																	73103989		2203	4300	6503	SO:0001819	synonymous_variant	55315				nucleobase, nucleoside and nucleotide metabolic process	integral to membrane|late endosome membrane|lysosomal membrane	nucleoside transmembrane transporter activity	g.chr10:73103989C>T	AF326987	CCDS7310.1	10q22.2	2013-07-17	2013-07-17		ENSG00000198246	ENSG00000198246		"Solute carriers"	23096	protein-coding gene	gene with protein product		612373	"solute carrier family 29 (nucleoside transporters), member 3"			11396612	Standard	NM_018344		Approved	ENT3, FLJ11160	uc001jrr.4	Q9BZD2	OTTHUMG00000018424	ENST00000373189.5:c.324C>T	10.37:g.73103989C>T							p.A108A	NM_001174098.1|NM_018344.5	NP_001167569.1|NP_060814.4	Q9BZD2	S29A3_HUMAN			3	376	+			108					B2RB50|B4E2Z9|B7ZA37|Q0VAM9|Q5T465|Q7RTT8|Q8IVZ0|Q9BWI2|Q9NUS9	Silent	SNP	ENST00000373189.5	37	c.324C>T	CCDS7310.1																																																																																				0.592	SLC29A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048544.1	NM_018344		4	73	0	0	0	1	0	4	73					T	73103989	C	T	73103989	2	4	435	1	0	0	0	0	0	0	0	1	14536	639	23	2		2	SLC29A3	10	73103989	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	48287	73103989	62430758	4733	25658											
CDH23	414152	broad.mit.edu	37	chr10	73491778	73491778	+	Intron	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtgaactaccgcatcctgtcGggcgcagaggggaagtttga	9	8	15	9	3	0	3	0	2	0	1	2	4	1	4	2	3	2	3	2	3	3	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:73491778G>A	ENST00000398786.2	-	1	97				CDH23_ENST00000224721.6_Silent_p.S1255S	NM_001168390.1	NP_001161862.1	Q8TEF2	CJ105_HUMAN	chromosome 10 open reading frame 105							integral component of membrane (GO:0016021)											GCATCCTGTCGGGCGCAGAGG	0.552																																						ENST00000224721.6																			0				NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						c.(3763-3765)tcG>tcA		cadherin-related 23							61	66	65					10																	73491778		2084	4205	6289	SO:0001627	intron_variant	64072				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding	g.chr10:73491778G>A	AK074172	CCDS44430.1	10q22.1	2012-06-01			ENSG00000214688	ENSG00000214688			20304	protein-coding gene	gene with protein product							Standard	NM_001164375		Approved	FLJ00245	uc001jsa.2	Q8TEF2	OTTHUMG00000018427	ENST00000398786.2:c.4+5706C>T	10.37:g.73491778G>A						C10orf105_ENST00000398786.2_Intron	p.S1255S	NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN			31	3770	+			1250			Cadherin 12.			Silent	SNP	ENST00000398786.2	37	c.3765G>A	CCDS44430.1																																																																																				0.552	C10orf105-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048551.2	NM_001164375		10	14	0	0	0	1	0	10	14					A	73491778	G	A	73491778	1	1	435	0	1	0	0	0	0	0	0	0	3108	1103	39	2		2	CDH23	10	73491778	Intron	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	387789	73491778	62042969	4734	25659											
C10orf54	64115	broad.mit.edu	37	chr10	73515118	73515118	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagggaggaatactcacggCggttggaggctgcctgcctt	7	8	16	10	2	1	0	1	0	0	0	1	3	1	3	2	6	3	3	2	6	2	3	rs138900194		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:73515118C>T	ENST00000394957.3	-	4	732	c.674G>A	c.(673-675)cGc>cAc	p.R225H	CDH23_ENST00000224721.6_Intron	NM_022153.1	NP_071436.1	Q9H7M9	GI24_HUMAN	chromosome 10 open reading frame 54	225					BMP signaling pathway (GO:0030509)|negative regulation of CD4-positive, alpha-beta T cell proliferation (GO:2000562)|negative regulation of T cell cytokine production (GO:0002725)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of stem cell differentiation (GO:2000738)|stem cell differentiation (GO:0048863)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(2)|endometrium(1)|lung(1)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	9						ATACTCACGGCGGTTGGAGGC	0.642																																						ENST00000394957.3																			0				breast(1)|central_nervous_system(2)|endometrium(1)|lung(1)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	9						c.(673-675)cGc>cAc		chromosome 10 open reading frame 54							34	29	31					10																	73515118		2202	4296	6498	SO:0001583	missense	64115					integral to membrane	receptor activity	g.chr10:73515118C>T	AF193048	CCDS31218.1	10q22.1	2013-11-28			ENSG00000107738	ENSG00000107738		"Immunoglobulin superfamily / V-set domain containing"	30085	protein-coding gene	gene with protein product	"stress induced secreted protein 1"	615608				12975309	Standard	NM_022153		Approved	SISP1, GI24, B7-H5, B7H5	uc001jsd.3	Q9H7M9	OTTHUMG00000018426	ENST00000394957.3:c.674G>A	10.37:g.73515118C>T	ENSP00000378409:p.Arg225His					CDH23_ENST00000224721.6_Intron	p.R225H	NM_022153.1	NP_071436.1	Q9H7M9	GI24_HUMAN			4	732	-			225					A1L0X9|A4ZYV1|A8MVH5|Q6UXF3|Q8WUG3|Q8WYZ8	Missense_Mutation	SNP	ENST00000394957.3	37	c.674G>A	CCDS31218.1	.	.	.	.	.	.	.	.	.	.	C	19.74	3.883069	0.72410	.	.	ENSG00000107738	ENST00000394957;ENST00000263569	T	0.59502	0.26	5.22	3.37	0.38596	.	0.085303	0.85682	N	0.000000	T	0.53384	0.1793	M	0.68952	2.095	0.58432	D	0.999998	B;B	0.27416	0.08;0.178	B;B	0.21151	0.019;0.033	T	0.54397	-0.8300	10	0.87932	D	0	-3.6358	11.2539	0.49041	0.0:0.8513:0.0:0.1487	.	225;225	A4ZYV1;Q9H7M9	.;GI24_HUMAN	H	225;221	ENSP00000378409:R225H	ENSP00000263569:R221H	R	-	2	0	C10orf54	73185124	1.000000	0.71417	1.000000	0.80357	0.581000	0.36288	3.324000	0.52022	0.596000	0.29794	0.462000	0.41574	CGC		0.642	C10orf54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048548.1	NM_022153		3	5	0	0	0	1	0	3	5					T	73515118	C	T	73515118	3	4	435	1	0	0	0	0	1	0	0	0	1607	768	27	1	277	1	C10orf54	10	73515118	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	23340	73515118	62019629	4735	25660											
CDH23	5660	broad.mit.edu	37	chr10	73574912	73574912	+	IGR	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgggccgctcgctggagacGctgaccgctgccgaggccac	5	5	15	16	5	0	2	0	1	0	1	1	4	0	2	4	3	1	4	4	3	0	0	rs376804660		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:73574912G>A	ENST00000394936.3	-	0	2866				CDH23_ENST00000224721.6_Silent_p.T3319T|CDH23_ENST00000475158.1_3'UTR|CDH23_ENST00000398788.3_Silent_p.T1074T			P07602	SAP_HUMAN	prosaposin						blood coagulation (GO:0007596)|cellular response to organic substance (GO:0071310)|epithelial cell differentiation involved in prostate gland development (GO:0060742)|glycosphingolipid metabolic process (GO:0006687)|lipid transport (GO:0006869)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of catalytic activity (GO:0043085)|prostate gland growth (GO:0060736)|regulation of lipid metabolic process (GO:0019216)|regulation of MAPK cascade (GO:0043408)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal lumen (GO:0043202)|lysosomal membrane (GO:0005765)|mitochondrion (GO:0005739)	enzyme activator activity (GO:0008047)|lipid binding (GO:0008289)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	13						CGCTGGAGACGCTGACCGCTG	0.662													G|||	1	0.000199681	8e-04	0	5008	,	,		17312	0		0	False		,,,				2504	0					ENST00000224721.6																			0				NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						c.(9955-9957)acG>acA		cadherin-related 23		G	,,,,	3,4339		0,3,2168	18	26	23		3222,3117,633,528,9942	-5.1	0.2	10		23	7,8513		0,7,4253	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	CDH23	NM_001171933.1,NM_001171934.1,NM_001171935.1,NM_001171936.1,NM_022124.5	,,,,	0,10,6421	AA,AG,GG		0.0822,0.0691,0.0777	,,,,	1074/1115,1039/1080,211/252,176/217,3314/3355	73574912	10,12852	2171	4260	6431	SO:0001628	intergenic_variant	64072				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding	g.chr10:73574912G>A	BC004275	CCDS7311.1	10q21-q22	2014-01-30	2008-07-31		ENSG00000197746	ENSG00000197746		"Endogenous ligands"	9498	protein-coding gene	gene with protein product	"variant Gaucher disease and variant metachromatic leukodystrophy"	176801	"sphingolipid activator protein-1"	SAP1, GLBA		2717620	Standard	NM_001042465		Approved		uc001jsm.3	P07602	OTTHUMG00000018429		10.37:g.73574912G>A						CDH23_ENST00000398788.3_Silent_p.T1074T|CDH23_ENST00000475158.1_3'UTR	p.T3319T	NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN			69	9962	+			3314					P07292|P15793|P78538|P78541|P78546|P78547|P78558|Q53Y86|Q6IBQ6|Q92739|Q92740|Q92741|Q92742	Silent	SNP	ENST00000394936.3	37	c.9957G>A	CCDS7311.1																																																																																				0.662	PSAP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000048553.1	NM_002778		7	5	0	0	0	1	0	7	5					A	73574912	G	A	73574912	1	1	435	0	1	0	0	0	0	0	0	0	3108	1074	38	1		1	CDH23	10	73574912	IGR	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	59794	73574912	61959835	4736	25661											
CHST3	9469	broad.mit.edu	37	chr10	73767211	73767211	+	Missense_Mutation	SNP	C	C	T																															cgtgctgctcatggccaccaCgcgcaccggctcctcgttcg																								rs267606735		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:73767211C>T	ENST00000373115.4	+	3	859	c.422C>T	c.(421-423)aCg>aTg	p.T141M		NM_004273.4	NP_004264.2	Q7LGC8	CHST3_HUMAN	carbohydrate (chondroitin 6) sulfotransferase 3	141					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)|sulfur compound metabolic process (GO:0006790)|T cell homeostasis (GO:0043029)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	chondroitin 6-sulfotransferase activity (GO:0008459)|proteoglycan sulfotransferase activity (GO:0050698)|sulfotransferase activity (GO:0008146)			endometrium(1)|lung(5)	6						ATGGCCACCACGCGCACCGGC	0.667																																						ENST00000373115.4																			0				endometrium(1)|lung(5)	6						c.(421-423)aCg>aTg		carbohydrate (chondroitin 6) sulfotransferase 3							19	18	18					10																	73767211		2200	4296	6496	SO:0001583	missense	9469				chondroitin sulfate biosynthetic process	Golgi membrane|integral to membrane	chondroitin 6-sulfotransferase activity	g.chr10:73767211C>T	AB017915	CCDS7312.1	10q22.1	2007-03-14			ENSG00000122863	ENSG00000122863		"Sulfotransferases, membrane-bound"	1971	protein-coding gene	gene with protein product		603799				9883891, 9714738	Standard	NM_004273		Approved	C6ST, C6ST1	uc001jsn.3	Q7LGC8	OTTHUMG00000018431	ENST00000373115.4:c.422C>T	10.37:g.73767211C>T	ENSP00000362207:p.Thr141Met						p.T141M	NM_004273.4	NP_004264.2	Q7LGC8	CHST3_HUMAN			3	859	+			141					O75099|Q52M30	Missense_Mutation	SNP	ENST00000373115.4	37	c.422C>T	CCDS7312.1	.	.	.	.	.	.	.	.	.	.	C	25.3	4.626555	0.87560	.	.	ENSG00000122863	ENST00000373115	T	0.80738	-1.41	5.68	5.68	0.88126	Sulfotransferase domain (1);	0.000000	0.85682	D	0.000000	D	0.87200	0.6118	L	0.48642	1.525	0.80722	D	1	D	0.89917	1.0	D	0.76575	0.988	D	0.87237	0.2264	10	0.59425	D	0.04	-37.1686	18.7833	0.91944	0.0:1.0:0.0:0.0	.	141	Q7LGC8	CHST3_HUMAN	M	141	ENSP00000362207:T141M	ENSP00000362207:T141M	T	+	2	0	CHST3	73437217	1.000000	0.71417	0.971000	0.41717	0.992000	0.81027	7.730000	0.84881	2.698000	0.92095	0.561000	0.74099	ACG		0.667	CHST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048563.1	NM_004273		6	8	0	0	0	1	0	6	8					T	73767211	C	T	73767211	3	4	435	1	0	0	0	0	1	0	0	0	3405	536	19	1	428	1	CHST3	10	73767211	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	192299	73767211	61767536	4737	25662	121	2									
CHST3	9469	broad.mit.edu	37	chr10	73767213	73767213	+	Missense_Mutation	SNP	C	C	T																															tgctgctcatggccaccacgCgcaccggctcctcgttcgtg																										TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:73767213C>T	ENST00000373115.4	+	3	861	c.424C>T	c.(424-426)Cgc>Tgc	p.R142C		NM_004273.4	NP_004264.2	Q7LGC8	CHST3_HUMAN	carbohydrate (chondroitin 6) sulfotransferase 3	142					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)|sulfur compound metabolic process (GO:0006790)|T cell homeostasis (GO:0043029)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	chondroitin 6-sulfotransferase activity (GO:0008459)|proteoglycan sulfotransferase activity (GO:0050698)|sulfotransferase activity (GO:0008146)			endometrium(1)|lung(5)	6						GGCCACCACGCGCACCGGCTC	0.667																																						ENST00000373115.4																			0				endometrium(1)|lung(5)	6						c.(424-426)Cgc>Tgc		carbohydrate (chondroitin 6) sulfotransferase 3							19	18	19					10																	73767213		2202	4298	6500	SO:0001583	missense	9469				chondroitin sulfate biosynthetic process	Golgi membrane|integral to membrane	chondroitin 6-sulfotransferase activity	g.chr10:73767213C>T	AB017915	CCDS7312.1	10q22.1	2007-03-14			ENSG00000122863	ENSG00000122863		"Sulfotransferases, membrane-bound"	1971	protein-coding gene	gene with protein product		603799				9883891, 9714738	Standard	NM_004273		Approved	C6ST, C6ST1	uc001jsn.3	Q7LGC8	OTTHUMG00000018431	ENST00000373115.4:c.424C>T	10.37:g.73767213C>T	ENSP00000362207:p.Arg142Cys						p.R142C	NM_004273.4	NP_004264.2	Q7LGC8	CHST3_HUMAN			3	861	+			142					O75099|Q52M30	Missense_Mutation	SNP	ENST00000373115.4	37	c.424C>T	CCDS7312.1	.	.	.	.	.	.	.	.	.	.	C	17.44	3.390429	0.62066	.	.	ENSG00000122863	ENST00000373115	D	0.88124	-2.34	5.68	4.7	0.59300	Sulfotransferase domain (1);	0.000000	0.85682	D	0.000000	D	0.94912	0.8355	M	0.92169	3.28	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.95780	0.8816	10	0.87932	D	0	-28.807	16.5082	0.84278	0.1394:0.8606:0.0:0.0	.	142	Q7LGC8	CHST3_HUMAN	C	142	ENSP00000362207:R142C	ENSP00000362207:R142C	R	+	1	0	CHST3	73437219	0.945000	0.32115	0.973000	0.42090	0.991000	0.79684	2.057000	0.41365	2.698000	0.92095	0.561000	0.74099	CGC		0.667	CHST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048563.1	NM_004273		6	6	0	0	0	1	0	6	6					T	73767213	C	T	73767213	3	4	435	1	0	0	0	0	1	0	0	0	3405	768	27	1	430	1	CHST3	10	73767213	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	2	73767213	61767534	4738	25663	121	2									
CHST3	9469	broad.mit.edu	37	chr10	73767545	73767545	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cactgcaagaaccgccgctgCggccccctcaacgtgacgct	8	5	10	18	5	1	2	1	1	0	1	1	2	1	2	4	1	4	3	4	1	3	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:73767545C>T	ENST00000373115.4	+	3	1193	c.756C>T	c.(754-756)tgC>tgT	p.C252C		NM_004273.4	NP_004264.2	Q7LGC8	CHST3_HUMAN	carbohydrate (chondroitin 6) sulfotransferase 3	252					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)|sulfur compound metabolic process (GO:0006790)|T cell homeostasis (GO:0043029)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	chondroitin 6-sulfotransferase activity (GO:0008459)|proteoglycan sulfotransferase activity (GO:0050698)|sulfotransferase activity (GO:0008146)			endometrium(1)|lung(5)	6						ACCGCCGCTGCGGCCCCCTCA	0.682																																						ENST00000373115.4																			0				endometrium(1)|lung(5)	6						c.(754-756)tgC>tgT		carbohydrate (chondroitin 6) sulfotransferase 3							13	13	13					10																	73767545		2102	4088	6190	SO:0001819	synonymous_variant	9469				chondroitin sulfate biosynthetic process	Golgi membrane|integral to membrane	chondroitin 6-sulfotransferase activity	g.chr10:73767545C>T	AB017915	CCDS7312.1	10q22.1	2007-03-14			ENSG00000122863	ENSG00000122863		"Sulfotransferases, membrane-bound"	1971	protein-coding gene	gene with protein product		603799				9883891, 9714738	Standard	NM_004273		Approved	C6ST, C6ST1	uc001jsn.3	Q7LGC8	OTTHUMG00000018431	ENST00000373115.4:c.756C>T	10.37:g.73767545C>T							p.C252C	NM_004273.4	NP_004264.2	Q7LGC8	CHST3_HUMAN			3	1193	+			252					O75099|Q52M30	Silent	SNP	ENST00000373115.4	37	c.756C>T	CCDS7312.1																																																																																				0.682	CHST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048563.1	NM_004273		5	13	0	0	0	1	0	5	13					T	73767545	C	T	73767545	2	4	435	1	0	0	0	0	0	0	0	1	3405	776	27	1		1	CHST3	10	73767545	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	332	73767545	61767202	4739	25664											
DDIT4	54541	broad.mit.edu	37	chr10	74034170	74034170	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gcagcaacagtggcttcgggCcggaggaaggtgagcggtgg	8	5	20	8	3	0	1	0	1	0	0	1	3	0	3	1	7	3	3	1	7	2	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:74034170C>T	ENST00000307365.3	+	2	397	c.196C>T	c.(196-198)Ccg>Tcg	p.P66S	RP11-442H21.2_ENST00000491934.2_RNA	NM_019058.2	NP_061931.1	Q9NX09	DDIT4_HUMAN	DNA-damage-inducible transcript 4	66					brain development (GO:0007420)|cell proliferation (GO:0008283)|defense response to virus (GO:0051607)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|negative regulation of glycolytic process (GO:0045820)|negative regulation of intracellular signal transduction (GO:1902532)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|negative regulation of TOR signaling (GO:0032007)|neuron differentiation (GO:0030182)|neuron migration (GO:0001764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of neuron death (GO:1901216)|protein complex disassembly (GO:0043241)|reactive oxygen species metabolic process (GO:0072593)|response to hypoxia (GO:0001666)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|mitochondrion (GO:0005739)				cervix(1)|endometrium(2)|lung(5)|pancreas(1)|prostate(2)|urinary_tract(1)	12						TGGCTTCGGGCCGGAGGAAGG	0.711																																						ENST00000307365.3																			0				cervix(1)|endometrium(2)|lung(5)|pancreas(1)|prostate(2)|urinary_tract(1)	12						c.(196-198)Ccg>Tcg		DNA-damage-inducible transcript 4							15	17	16					10																	74034170		2202	4289	6491	SO:0001583	missense	54541				apoptosis			g.chr10:74034170C>T	AK000507	CCDS7315.1	10q22.1	2008-05-14			ENSG00000168209	ENSG00000168209			24944	protein-coding gene	gene with protein product	"HIF-1 responsive RTP801"	607729				11884613	Standard	NM_019058		Approved	RTP801, FLJ20500, REDD-1, REDD1, Dig2	uc001jsx.1	Q9NX09	OTTHUMG00000018435	ENST00000307365.3:c.196C>T	10.37:g.74034170C>T	ENSP00000307305:p.Pro66Ser						p.P66S	NM_019058.2	NP_061931.1	Q9NX09	DDIT4_HUMAN			2	397	+			66					Q9H0S3	Missense_Mutation	SNP	ENST00000307365.3	37	c.196C>T	CCDS7315.1	.	.	.	.	.	.	.	.	.	.	C	8.457	0.854516	0.17106	.	.	ENSG00000168209	ENST00000307365	T	0.39787	1.06	5.33	4.36	0.52297	.	0.440584	0.27270	N	0.020137	T	0.17959	0.0431	N	0.11560	0.145	0.29515	N	0.853934	B	0.02656	0.0	B	0.06405	0.002	T	0.21314	-1.0249	10	0.08179	T	0.78	-40.1919	5.6649	0.17690	0.0:0.6789:0.1935:0.1276	.	66	Q9NX09	DDIT4_HUMAN	S	66	ENSP00000307305:P66S	ENSP00000307305:P66S	P	+	1	0	DDIT4	73704176	0.491000	0.26019	1.000000	0.80357	0.992000	0.81027	0.820000	0.27323	2.652000	0.90054	0.655000	0.94253	CCG		0.711	DDIT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048577.1	NM_019058		7	12	0	0	0	1	0	7	12					T	74034170	C	T	74034170	3	4	435	1	0	0	0	0	1	0	0	0	4331	739	26	3	198	3	DDIT4	10	74034170	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	266625	74034170	61500577	4740	25665											
OIT3	170392	broad.mit.edu	37	chr10	74673183	74673183	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtgtccaacggcacccatgTcaacatcctcttctctctca	9	11	5	16	1	4	0	2	0	3	0	8	0	6	0	3	1	2	1	3	1	2	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:74673183T>C	ENST00000334011.5	+	6	1126	c.908T>C	c.(907-909)gTc>gCc	p.V303A		NM_152635.1	NP_689848.1	Q8WWZ8	OIT3_HUMAN	oncoprotein induced transcript 3	303	ZP. {ECO:0000255|PROSITE- ProRule:PRU00375}.					nucleus (GO:0005634)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|liver(2)|lung(14)|ovary(2)|prostate(1)|skin(2)	35	Prostate(51;0.0198)					GGCACCCATGTCAACATCCTC	0.547																																					Colon(7;19 345 13446 17537)	ENST00000334011.5																			0				autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|liver(2)|lung(14)|ovary(2)|prostate(1)|skin(2)	35						c.(907-909)gTc>gCc		oncoprotein induced transcript 3							131	111	118					10																	74673183		2203	4300	6503	SO:0001583	missense	170392					nuclear envelope	calcium ion binding	g.chr10:74673183T>C		CCDS7318.1	10q22.2-q22.3	2004-04-21			ENSG00000138315	ENSG00000138315			29953	protein-coding gene	gene with protein product		609330				12975309, 12939600	Standard	NM_152635		Approved	LZP, FLJ39116	uc001jte.1	Q8WWZ8	OTTHUMG00000018444	ENST00000334011.5:c.908T>C	10.37:g.74673183T>C	ENSP00000333900:p.Val303Ala						p.V303A	NM_152635.1	NP_689848.1	Q8WWZ8	OIT3_HUMAN			6	1126	+	Prostate(51;0.0198)		303			ZP.		A0AVP3|Q8N1M8	Missense_Mutation	SNP	ENST00000334011.5	37	c.908T>C	CCDS7318.1	.	.	.	.	.	.	.	.	.	.	T	22.2	4.252881	0.80135	.	.	ENSG00000138315	ENST00000334011;ENST00000415725	D	0.82255	-1.59	5.95	5.95	0.96441	Zona pellucida sperm-binding protein (3);	0.115539	0.36854	N	0.002365	D	0.83806	0.5334	M	0.71036	2.16	0.54753	D	0.999984	P	0.39044	0.656	B	0.42495	0.389	T	0.81226	-0.1029	10	0.17832	T	0.49	-27.6602	16.4237	0.83790	0.0:0.0:0.0:1.0	.	303	Q8WWZ8	OIT3_HUMAN	A	303	ENSP00000333900:V303A	ENSP00000333900:V303A	V	+	2	0	OIT3	74343189	1.000000	0.71417	0.978000	0.43139	0.984000	0.73092	7.739000	0.84976	2.279000	0.76181	0.533000	0.62120	GTC		0.547	OIT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048596.1	NM_152635		26	38	0	0	0	1	0	26	38					C	74673183	T	C	74673183	3	2	435	1	0	0	0	0	1	0	0	0	10849	1667	58	4	930	4	OIT3	10	74673183	Missense_Mutation	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	639013	74673183	60861564	4741	25666											
OIT3	170392	broad.mit.edu	37	chr10	74692156	74692156	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgtctgtggagtgttggaCgagcgttcccgctgtgccca	4	12	14	11	3	1	0	0	0	1	0	2	3	2	2	2	2	2	3	2	2	0	3	rs187072047	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:74692156C>T	ENST00000334011.5	+	9	1730	c.1512C>T	c.(1510-1512)gaC>gaT	p.D504D		NM_152635.1	NP_689848.1	Q8WWZ8	OIT3_HUMAN	oncoprotein induced transcript 3	504	ZP. {ECO:0000255|PROSITE- ProRule:PRU00375}.					nucleus (GO:0005634)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|liver(2)|lung(14)|ovary(2)|prostate(1)|skin(2)	35	Prostate(51;0.0198)					GAGTGTTGGACGAGCGTTCCC	0.582													C|||	3	0.000599042	0	0	5008	,	,		17690	0.003		0	False		,,,				2504	0				Colon(7;19 345 13446 17537)	ENST00000334011.5																			0				autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|liver(2)|lung(14)|ovary(2)|prostate(1)|skin(2)	35						c.(1510-1512)gaC>gaT		oncoprotein induced transcript 3		C		1,4405	2.1+/-5.4	0,1,2202	123	128	126		1512	-4.5	0	10		126	0,8600		0,0,4300	no	coding-synonymous	OIT3	NM_152635.1		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		504/546	74692156	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	170392					nuclear envelope	calcium ion binding	g.chr10:74692156C>T		CCDS7318.1	10q22.2-q22.3	2004-04-21			ENSG00000138315	ENSG00000138315			29953	protein-coding gene	gene with protein product		609330				12975309, 12939600	Standard	NM_152635		Approved	LZP, FLJ39116	uc001jte.1	Q8WWZ8	OTTHUMG00000018444	ENST00000334011.5:c.1512C>T	10.37:g.74692156C>T							p.D504D	NM_152635.1	NP_689848.1	Q8WWZ8	OIT3_HUMAN			9	1730	+	Prostate(51;0.0198)		504			ZP.		A0AVP3|Q8N1M8	Silent	SNP	ENST00000334011.5	37	c.1512C>T	CCDS7318.1																																																																																				0.582	OIT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048596.1	NM_152635		36	72	0	0	0	1	0	36	72					T	74692156	C	T	74692156	2	4	435	1	0	0	0	0	0	0	0	1	10849	535	19	1		1	OIT3	10	74692156	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	18973	74692156	60842591	4742	25667											
P4HA1	5033	broad.mit.edu	37	chr10	74806744	74806744	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cagaaataatatcatggaagCgaataatacgaggcttgtcc	16	9	9	7	2	1	1	1	0	0	1	2	4	2	2	1	2	2	1	1	2	7	5	rs183380808		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:74806744C>T	ENST00000307116.2	-	8	1132	c.1016G>A	c.(1015-1017)cGc>cAc	p.R339H	P4HA1_ENST00000373008.2_Missense_Mutation_p.R339H|P4HA1_ENST00000394890.2_Missense_Mutation_p.R339H|P4HA1_ENST00000412021.2_Missense_Mutation_p.R339H|P4HA1_ENST00000263556.3_Missense_Mutation_p.R339H|P4HA1_ENST00000440381.1_Missense_Mutation_p.R339H			P13674	P4HA1_HUMAN	prolyl 4-hydroxylase, alpha polypeptide I	339					collagen fibril organization (GO:0030199)|peptidyl-proline hydroxylation to 4-hydroxy-L-proline (GO:0018401)	endoplasmic reticulum (GO:0005783)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrion (GO:0005739)|procollagen-proline 4-dioxygenase complex (GO:0016222)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen (GO:0016702)|procollagen-proline 4-dioxygenase activity (GO:0004656)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)	15	Prostate(51;0.0198)				Hydralazine(DB01275)|L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	ATCATGGAAGCGAATAATACG	0.368																																					Colon(147;367 2405 2662 52127)	ENST00000412021.2																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)	15						c.(1015-1017)cGc>cAc		prolyl 4-hydroxylase, alpha polypeptide I	Hydralazine(DB01275)|L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)						123	121	121					10																	74806744		2203	4300	6503	SO:0001583	missense	5033					endoplasmic reticulum lumen|mitochondrion	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 4-dioxygenase activity	g.chr10:74806744C>T		CCDS7320.1, CCDS41537.1, CCDS44432.1	10q21.3-q23.1	2008-12-09	2008-12-09		ENSG00000122884	ENSG00000122884	1.14.11.2		8546	protein-coding gene	gene with protein product	"collagen prolyl 4-hydroxylase alpha(I)"	176710	"procollagen-proline, 2-oxoglutarate 4-dioxygenase (proline 4-hydroxylase), alpha polypeptide I"	P4HA		2556027	Standard	NM_001017962		Approved	C-P4Halpha(I)	uc001jtg.3	P13674	OTTHUMG00000018449	ENST00000307116.2:c.1016G>A	10.37:g.74806744C>T	ENSP00000307318:p.Arg339His					P4HA1_ENST00000263556.3_Missense_Mutation_p.R339H|P4HA1_ENST00000394890.2_Missense_Mutation_p.R339H|P4HA1_ENST00000440381.1_Missense_Mutation_p.R339H|P4HA1_ENST00000307116.2_Missense_Mutation_p.R339H|P4HA1_ENST00000373008.2_Missense_Mutation_p.R339H	p.R339H	NM_001142595.1	NP_001136067.1	P13674	P4HA1_HUMAN			9	1349	-	Prostate(51;0.0198)		339					C9JL12|Q15082|Q15083|Q5VSQ5	Missense_Mutation	SNP	ENST00000307116.2	37	c.1016G>A		.	.	.	.	.	.	.	.	.	.	C	35	5.439118	0.96168	.	.	ENSG00000122884	ENST00000307116;ENST00000373008;ENST00000412021;ENST00000394890;ENST00000263556;ENST00000440381	T;T;T;T;T;T	0.44482	0.93;0.92;0.93;0.93;0.92;0.93	5.94	5.94	0.96194	Prolyl 4-hydroxylase, alpha subunit (1);	0.094876	0.85682	D	0.000000	T	0.70954	0.3283	M	0.86740	2.835	0.80722	D	1	D;D;D	0.89917	0.993;1.0;1.0	P;D;D	0.69142	0.822;0.962;0.962	T	0.74396	-0.3679	10	0.72032	D	0.01	-2.0691	20.369	0.98888	0.0:1.0:0.0:0.0	.	339;339;339	C9JL12;Q5VSQ6;P13674	.;.;P4HA1_HUMAN	H	339	ENSP00000307318:R339H;ENSP00000362099:R339H;ENSP00000411688:R339H;ENSP00000378353:R339H;ENSP00000263556:R339H;ENSP00000414464:R339H	ENSP00000263556:R339H	R	-	2	0	P4HA1	74476750	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.468000	0.80943	2.819000	0.97034	0.650000	0.86243	CGC		0.368	P4HA1-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000048601.1	NM_000917		21	37	0	0	0	1	0	21	37					T	74806744	C	T	74806744	3	4	435	1	0	0	0	0	1	0	0	0	11356	768	27	1	695	1	P4HA1	10	74806744	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	114588	74806744	60728003	4743	25668											
ECD	11319	broad.mit.edu	37	chr10	74914063	74914063	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atgtcttgaaaacacgacaaGctcgcaggtcaatagggtct	13	9	10	9	2	3	1	1	1	2	0	4	2	3	1	0	2	2	2	0	2	5	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:74914063G>A	ENST00000372979.4	-	6	940	c.734C>T	c.(733-735)gCt>gTt	p.A245V	ECD_ENST00000610256.1_5'Flank|ECD_ENST00000454759.2_Missense_Mutation_p.A245V|ECD_ENST00000430082.2_Missense_Mutation_p.A245V	NM_007265.2	NP_009196.1	O95905	SGT1_HUMAN	ecdysoneless homolog (Drosophila)	245					cell proliferation (GO:0008283)|regulation of G1/S transition of mitotic cell cycle (GO:2000045)|regulation of glycolytic process (GO:0006110)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|pancreas(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Prostate(51;0.0119)					AACACGACAAGCTCGCAGGTC	0.473																																						ENST00000372979.4																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|pancreas(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(733-735)gCt>gTt		ecdysoneless homolog (Drosophila)							73	68	70					10																	74914063		2203	4300	6503	SO:0001583	missense	11319				regulation of glycolysis|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleus	transcription coactivator activity	g.chr10:74914063G>A	BC000721	CCDS7321.1, CCDS44433.1, CCDS44434.1	10q22.3	2006-02-07				ENSG00000122882			17029	protein-coding gene	gene with protein product						9928932, 15128659	Standard	NM_007265		Approved	hSGT1, GCR2	uc001jtn.3	O95905		ENST00000372979.4:c.734C>T	10.37:g.74914063G>A	ENSP00000362070:p.Ala245Val					ECD_ENST00000454759.1_Missense_Mutation_p.A245V|ECD_ENST00000430082.1_Missense_Mutation_p.A245V	p.A245V	NM_007265.2	NP_009196.1	O95905	SGT1_HUMAN			6	940	-	Prostate(51;0.0119)		245					C9JX46|E9PAW8	Missense_Mutation	SNP	ENST00000372979.4	37	c.734C>T	CCDS7321.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.968125	0.74131	.	.	ENSG00000122882	ENST00000372979;ENST00000430082;ENST00000454759;ENST00000453402	T;T;T;T	0.20738	2.05;2.05;2.05;2.05	5.2	5.2	0.72013	.	0.102234	0.64402	D	0.000002	T	0.37376	0.1001	L	0.61036	1.89	0.80722	D	1	D;P;P	0.53619	0.961;0.619;0.871	P;B;P	0.56163	0.793;0.442;0.793	T	0.03524	-1.1028	10	0.30854	T	0.27	-10.6911	16.2256	0.82288	0.0:0.0:1.0:0.0	.	245;245;245	E9PAW8;C9JX46;O95905	.;.;SGT1_HUMAN	V	245;245;245;171	ENSP00000362070:A245V;ENSP00000401566:A245V;ENSP00000395786:A245V;ENSP00000391367:A171V	ENSP00000362070:A245V	A	-	2	0	ECD	74584069	1.000000	0.71417	1.000000	0.80357	0.730000	0.41778	7.420000	0.80191	2.404000	0.81709	0.650000	0.86243	GCT		0.473	ECD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048606.1	NM_007265		4	35	0	0	0	1	0	4	35					A	74914063	G	A	74914063	3	1	435	1	0	0	0	0	1	0	0	0	4888	971	34	3	1339	3	ECD	10	74914063	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	107319	74914063	60620684	4744	25669											
PPP3CB	5532	broad.mit.edu	37	chr10	75234727	75234727	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ggtgtctgcattcatggttgCctctcagaagaaataatgtg	10	13	11	7	0	3	2	2	0	2	2	4	2	3	2	1	2	2	2	1	2	3	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:75234727C>T	ENST00000360663.5	-	4	584	c.473G>A	c.(472-474)gGc>gAc	p.G158D	PPP3CB_ENST00000545874.1_Missense_Mutation_p.G72D|PPP3CB_ENST00000394829.2_Missense_Mutation_p.G158D|PPP3CB_ENST00000394828.2_Missense_Mutation_p.G158D|PPP3CB_ENST00000342558.3_Missense_Mutation_p.G158D|PPP3CB_ENST00000394822.2_Missense_Mutation_p.G176D			P16298	PP2BB_HUMAN	protein phosphatase 3, catalytic subunit, beta isozyme	158	Catalytic.				axon extension (GO:0048675)|calcium ion-dependent exocytosis (GO:0017156)|cellular response to drug (GO:0035690)|dephosphorylation (GO:0016311)|Fc-epsilon receptor signaling pathway (GO:0038095)|heart development (GO:0007507)|innate immune response (GO:0045087)|learning (GO:0007612)|locomotion involved in locomotory behavior (GO:0031987)|memory (GO:0007613)|negative regulation of T cell mediated cytotoxicity (GO:0001915)|positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0035774)|positive regulation of transcription, DNA-templated (GO:0045893)|protein dephosphorylation (GO:0006470)|protein phosphorylation (GO:0006468)|regulation of insulin secretion (GO:0050796)|regulation of synaptic plasticity (GO:0048167)|response to cytokine (GO:0034097)|signal transduction (GO:0007165)|social behavior (GO:0035176)|T cell activation (GO:0042110)|T cell differentiation (GO:0030217)|T cell homeostasis (GO:0043029)|T cell proliferation (GO:0042098)	calcineurin complex (GO:0005955)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|calmodulin-dependent protein phosphatase activity (GO:0033192)|drug binding (GO:0008144)|enzyme binding (GO:0019899)|protein dimerization activity (GO:0046983)|protein phosphatase 2B binding (GO:0030346)|protein serine/threonine phosphatase activity (GO:0004722)			breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(7)|skin(1)|urinary_tract(1)	22	Prostate(51;0.0119)					TTCATGGTTGCCTCTCAGAAG	0.348																																						ENST00000360663.5																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(7)|skin(1)|urinary_tract(1)	22						c.(472-474)gGc>gAc		protein phosphatase 3, catalytic subunit, beta isozyme							92	95	94					10																	75234727		2203	4300	6503	SO:0001583	missense	5532							g.chr10:75234727C>T	M29551	CCDS7328.1, CCDS44436.1, CCDS44437.1	10q22.2	2010-03-17	2010-03-05		ENSG00000107758	ENSG00000107758	3.1.3.16	"Serine/threonine phosphatases / Protein phosphatase, catalytic subunits"	9315	protein-coding gene	gene with protein product	"calcineurin A beta", "protein phosphatase 2B, catalytic subunit, beta isoform"	114106	"protein phosphatase 3 (formerly 2B), catalytic subunit, beta isoform (calcineurin A beta)", "protein phosphatase 3 (formerly 2B), catalytic subunit, beta isoform"	CALNB		1659808, 2558868	Standard	XM_005269944		Approved	CALNA2, CNA2, PP2Bbeta	uc001juf.3	P16298	OTTHUMG00000018472	ENST00000360663.5:c.473G>A	10.37:g.75234727C>T	ENSP00000353881:p.Gly158Asp					PPP3CB_ENST00000394829.2_Missense_Mutation_p.G158D|PPP3CB_ENST00000545874.1_Missense_Mutation_p.G72D|PPP3CB_ENST00000342558.3_Missense_Mutation_p.G158D|PPP3CB_ENST00000394828.2_Missense_Mutation_p.G158D|PPP3CB_ENST00000394822.2_Missense_Mutation_p.G176D	p.G158D			P16298	PP2BB_HUMAN			4	584	-	Prostate(51;0.0119)		158			Catalytic.		P16299|Q5F2F9|Q8N1F0|Q8N3W4	Missense_Mutation	SNP	ENST00000360663.5	37	c.473G>A	CCDS7328.1	.	.	.	.	.	.	.	.	.	.	C	27.4	4.826945	0.90955	.	.	ENSG00000107758	ENST00000360663;ENST00000394829;ENST00000394828;ENST00000342558;ENST00000545874;ENST00000394822	D;D;D;D;D;D	0.85258	-1.96;-1.96;-1.96;-1.96;-1.96;-1.96	4.57	4.57	0.56435	Serine/threonine-specific protein phosphatase/bis(5-nucleosyl)-tetraphosphatase (3);Metallophosphoesterase domain (1);	0.000000	0.64402	D	0.000005	D	0.96914	0.8992	H	0.99985	5.245	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.999;1.0;1.0;1.0;1.0	D	0.99694	1.1002	10	0.87932	D	0	.	17.6972	0.88285	0.0:1.0:0.0:0.0	.	176;72;158;158;158	P16298-2;F5H0F8;P16298-3;Q8N1F0;P16298	.;.;.;.;PP2BB_HUMAN	D	158;158;158;158;72;176	ENSP00000353881:G158D;ENSP00000378306:G158D;ENSP00000378305:G158D;ENSP00000343147:G158D;ENSP00000439876:G72D;ENSP00000378299:G176D	ENSP00000343147:G158D	G	-	2	0	PPP3CB	74904733	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.756000	0.85195	2.261000	0.74972	0.650000	0.86243	GGC		0.348	PPP3CB-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000048669.1	NM_021132		14	25	0	0	0	1	0	14	25					T	75234727	C	T	75234727	3	4	435	1	0	0	0	0	1	0	0	0	12398	739	26	3	1148	3	PPP3CB	10	75234727	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	320664	75234727	60300020	4745	25670											
USP54	159195	broad.mit.edu	37	chr10	75277322	75277322	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acttcaaccgaagtcagaagCttcaaggcagatctactggg	13	8	10	10	1	4	2	3	0	1	2	4	3	4	2	1	2	3	2	1	2	5	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:75277322C>T	ENST00000339859.4	-	19	2962	c.2862G>A	c.(2860-2862)aaG>aaA	p.K954K	USP54_ENST00000394811.2_Silent_p.K42K|RP11-137L10.6_ENST00000597958.1_RNA|RP11-137L10.6_ENST00000600206.1_RNA|USP54_ENST00000497106.1_5'UTR|USP54_ENST00000428547.1_Silent_p.K804K|USP54_ENST00000408019.1_Silent_p.K954K|RP11-137L10.6_ENST00000593790.1_RNA|RP11-137L10.6_ENST00000595069.1_RNA|USP54_ENST00000422491.2_Silent_p.K136K			Q70EL1	UBP54_HUMAN	ubiquitin specific peptidase 54	954					ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitinyl hydrolase activity (GO:0036459)			breast(5)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)	30	Prostate(51;0.0112)					AAGTCAGAAGCTTCAAGGCAG	0.488																																					Colon(195;880 2046 8854 25025 38456)	ENST00000339859.4																			0				breast(5)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)	30						c.(2860-2862)aaG>aaA		ubiquitin specific peptidase 54							92	81	84					10																	75277322		2203	4300	6503	SO:0001819	synonymous_variant	159195				ubiquitin-dependent protein catabolic process		protein binding|ubiquitin thiolesterase activity	g.chr10:75277322C>T	AJ583820	CCDS7329.2	10q22.3	2006-09-26	2005-08-08	2004-01-30	ENSG00000166348	ENSG00000166348		"Ubiquitin-specific peptidases"	23513	protein-coding gene	gene with protein product			"chromosome 10 open reading frame 29", "ubiquitin specific protease 54"	C10orf29		14715245	Standard	NM_152586		Approved	FLJ37318, bA137L10.3, bA137L10.4	uc001juo.3	Q70EL1	OTTHUMG00000018469	ENST00000339859.4:c.2862G>A	10.37:g.75277322C>T						USP54_ENST00000497106.1_5'UTR|RP11-137L10.6_ENST00000600206.1_RNA|RP11-137L10.6_ENST00000593790.1_RNA|RP11-137L10.6_ENST00000595069.1_RNA|RP11-137L10.6_ENST00000597958.1_RNA|USP54_ENST00000408019.1_Silent_p.K954K|USP54_ENST00000422491.2_Silent_p.K136K|USP54_ENST00000428547.1_Silent_p.K804K|USP54_ENST00000394811.2_Silent_p.K42K	p.K954K			Q70EL1	UBP54_HUMAN			19	2962	-	Prostate(51;0.0112)		954					A1L4Q4|A3KFK3|A3KFK5|A3KFK6|A3KFK7|A6PVS4|A6PVS5|A6PVS6|A6PVS7|B3KVY1|B9ZVM1|Q5F2F4|Q6P1N6|Q6ZSP1|Q6ZSR1|Q6ZTM0|Q8N1X2	Silent	SNP	ENST00000339859.4	37	c.2862G>A	CCDS7329.2																																																																																				0.488	USP54-014	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316563.2	NM_152586		12	22	0	0	0	1	0	12	22					T	75277322	C	T	75277322	2	4	435	1	0	0	0	0	0	0	0	1	17082	796	28	3		3	USP54	10	75277322	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	42595	75277322	60257425	4746	25671											
SEC24C	9632	broad.mit.edu	37	chr10	75519998	75519998	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tccactcctgcctggacagaGttttggagggccctcagtga	7	10	12	12	0	1	2	1	1	0	1	3	4	3	4	4	3	1	1	4	3	0	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:75519998G>T	ENST00000339365.2	+	6	866	c.704G>T	c.(703-705)aGt>aTt	p.S235I	SEC24C_ENST00000411652.2_Missense_Mutation_p.S93I|SEC24C_ENST00000535742.1_Intron|SEC24C_ENST00000546025.1_Missense_Mutation_p.S93I|SEC24C_ENST00000540668.1_Intron|SEC24C_ENST00000345254.4_Missense_Mutation_p.S235I	NM_004922.3	NP_004913.2	P53992	SC24C_HUMAN	SEC24 family member C	235					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular protein metabolic process (GO:0044267)|COPII vesicle coating (GO:0048208)|ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|small molecule metabolic process (GO:0044281)	COPII vesicle coat (GO:0030127)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)	zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(12)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	Prostate(51;0.0112)					CCTGGACAGAGTTTTGGAGGG	0.642																																						ENST00000339365.2																			0				breast(2)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(12)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32						c.(703-705)aGt>aTt		SEC24 family member C							82	86	84					10																	75519998		2203	4300	6503	SO:0001583	missense	9632				COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	protein binding|zinc ion binding	g.chr10:75519998G>T	D38555	CCDS7332.1	10q22	2013-10-21	2013-10-21		ENSG00000176986	ENSG00000176986			10705	protein-coding gene	gene with protein product		607185	"SEC24 (S. cerevisiae) related gene family, member C", "SEC24 family, member C (S. cerevisiae)"			10214955, 7584044	Standard	NM_004922		Approved	KIAA0079	uc001jux.3	P53992	OTTHUMG00000018476	ENST00000339365.2:c.704G>T	10.37:g.75519998G>T	ENSP00000343405:p.Ser235Ile					SEC24C_ENST00000345254.4_Missense_Mutation_p.S235I|SEC24C_ENST00000411652.2_Missense_Mutation_p.S93I|SEC24C_ENST00000546025.1_Missense_Mutation_p.S93I|SEC24C_ENST00000540668.1_Intron|SEC24C_ENST00000535742.1_Intron	p.S235I	NM_004922.3	NP_004913.2	P53992	SC24C_HUMAN			6	866	+	Prostate(51;0.0112)		235					B4DZT4|Q8WV25	Missense_Mutation	SNP	ENST00000339365.2	37	c.704G>T	CCDS7332.1	.	.	.	.	.	.	.	.	.	.	G	12.53	1.966810	0.34659	.	.	ENSG00000176986	ENST00000546025;ENST00000345254;ENST00000339365;ENST00000411652	T;T;D	0.82344	-1.19;-1.19;-1.6	5.63	2.62	0.31277	.	0.804069	0.11989	N	0.510078	T	0.73544	0.3600	L	0.36672	1.1	0.80722	D	1	B;B;B	0.29646	0.083;0.253;0.09	B;B;B	0.29942	0.019;0.109;0.015	T	0.66056	-0.6018	10	0.36615	T	0.2	-1.765	7.1424	0.25564	0.1669:0.2725:0.5606:0.0	.	93;235;235	E7EP00;G5EA31;P53992	.;.;SC24C_HUMAN	I	93;235;235;93	ENSP00000321845:S235I;ENSP00000343405:S235I;ENSP00000402913:S93I	ENSP00000343405:S235I	S	+	2	0	SEC24C	75190004	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	2.064000	0.41432	0.858000	0.35431	-0.254000	0.11334	AGT		0.642	SEC24C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048679.1			29	37	1	0	1.08312e-15	1	1.18619e-15	29	37					T	75519998	G	T	75519998	3	4	435	1	0	0	0	0	1	0	0	0	13996	1029	36	5	718	5	SEC24C	10	75519998	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	242676	75519998	60014749	4747	25672											
NDST2	8509	broad.mit.edu	37	chr10	75565362	75565362	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tacctgccaaagggggcttcGctcctgagggaaaagttcaa	11	8	12	10	1	1	1	1	1	0	0	3	2	2	2	3	3	2	3	3	3	5	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:75565362G>A	ENST00000309979.6	-	8	2285	c.1729C>T	c.(1729-1731)Cga>Tga	p.R577*	RP11-574K11.31_ENST00000603027.1_Nonsense_Mutation_p.R577*|NDST2_ENST00000299641.4_Nonsense_Mutation_p.R454*			P52849	NDST2_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 2	577	Heparan sulfate N-deacetylase 2.				carbohydrate metabolic process (GO:0005975)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparin biosynthetic process (GO:0030210)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine N-sulfotransferase activity (GO:0015016)|hydrolase activity (GO:0016787)			cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	30	Prostate(51;0.0112)					AGGGGGCTTCGCTCCTGAGGG	0.512																																						ENST00000299641.4																			0				cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	30						c.(1360-1362)Cga>Tga		N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 2							46	43	44					10																	75565362		2203	4300	6503	SO:0001587	stop_gained	8509					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity	g.chr10:75565362G>A	U36601	CCDS7335.1	10q22	2007-03-14			ENSG00000166507	ENSG00000166507		"Sulfotransferases, membrane-bound"	7681	protein-coding gene	gene with protein product		603268				9601056	Standard	NM_003635		Approved	NST2, HSST2	uc001jvk.2	P52849	OTTHUMG00000018489	ENST00000309979.6:c.1729C>T	10.37:g.75565362G>A	ENSP00000310657:p.Arg577*					NDST2_ENST00000309979.6_Nonsense_Mutation_p.R577*	p.R454*	NM_003635.3	NP_003626.1	P52849	NDST2_HUMAN			9	2330	-	Prostate(51;0.0112)		577			Heparan sulfate N-deacetylase 2.		Q2TB32|Q59H89	Nonsense_Mutation	SNP	ENST00000309979.6	37	c.1360C>T	CCDS7335.1	.	.	.	.	.	.	.	.	.	.	G	46	12.628096	0.99684	.	.	ENSG00000166507	ENST00000309979;ENST00000299641	.	.	.	5.8	4.89	0.63831	.	0.167885	0.48767	D	0.000167	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.09084	T	0.74	.	13.1478	0.59472	0.0:0.0:0.5628:0.4372	.	.	.	.	X	577;454	.	ENSP00000299641:R454X	R	-	1	2	NDST2	75235368	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	4.815000	0.62634	1.423000	0.47198	0.650000	0.86243	CGA		0.512	NDST2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048710.1	NM_003635		9	10	0	0	0	1	0	9	10					A	75565362	G	A	75565362	4	1	435	1	0	0	0	0	0	1	0	0	10256	1095	38	1	954	1	NDST2	10	75565362	Nonsense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	45364	75565362	59969385	4748	25673											
PLAU	414236	broad.mit.edu	37	chr10	75672731	75672731	+	Intron	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggtcacttttaccgaggaaaGgccagcactgacaccatggg	11	7	12	11	1	1	1	1	1	0	0	1	3	1	2	3	4	2	1	3	4	2	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:75672731G>T	ENST00000409178.1	-	3	301				PLAU_ENST00000446342.1_Missense_Mutation_p.K64N|C10orf55_ENST00000412307.2_Intron|PLAU_ENST00000372764.3_Missense_Mutation_p.K81N|PLAU_ENST00000372762.4_Missense_Mutation_p.K45N|PLAU_ENST00000494287.1_3'UTR	NM_001001791.2	NP_001001791.2	Q5SWW7	CJ055_HUMAN	chromosome 10 open reading frame 55											endometrium(1)	1	Prostate(51;0.0112)					ACCGAGGAAAGGCCAGCACTG	0.517																																						ENST00000446342.1																			0				cervix(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(3)|ovary(2)	16						c.(190-192)aaG>aaT		plasminogen activator, urokinase	Amiloride(DB00594)|Urokinase(DB00013)						67	62	64					10																	75672731		2203	4300	6503	SO:0001627	intron_variant	5328				blood coagulation|chemotaxis|fibrinolysis|proteolysis|regulation of cell adhesion mediated by integrin|regulation of receptor activity|regulation of smooth muscle cell migration|regulation of smooth muscle cell-matrix adhesion|signal transduction	cell surface|extracellular space|plasma membrane	serine-type endopeptidase activity	g.chr10:75672731G>T		CCDS53541.1	10q22.2	2012-05-24			ENSG00000222047	ENSG00000222047			31008	protein-coding gene	gene with protein product							Standard	NM_001001791		Approved	bA417O11.3	uc001jvz.2	Q5SWW7	OTTHUMG00000018496	ENST00000409178.1:c.39+69C>A	10.37:g.75672731G>T						PLAU_ENST00000494287.1_3'UTR|PLAU_ENST00000372762.4_Missense_Mutation_p.K45N|C10orf55_ENST00000412307.2_Intron|PLAU_ENST00000372764.3_Missense_Mutation_p.K81N|C10orf55_ENST00000409178.1_Intron	p.K64N	NM_001145031.1	NP_001138503.1	P00749	UROK_HUMAN			4	674	+	Prostate(51;0.0112)		81					Q3KRG4|Q8NAK4	Missense_Mutation	SNP	ENST00000409178.1	37	c.192G>T	CCDS53541.1	.	.	.	.	.	.	.	.	.	.	G	17.20	3.330131	0.60743	.	.	ENSG00000122861	ENST00000446342;ENST00000372764;ENST00000372762;ENST00000372761	T;T;T	0.62498	0.02;0.02;0.02	5.78	0.795	0.18643	Kringle (5);Kringle-like fold (1);	0.728583	0.14189	N	0.335441	T	0.55721	0.1938	L	0.39020	1.185	0.80722	D	1	B;B;P;B	0.44344	0.09;0.054;0.833;0.1	B;B;P;B	0.49301	0.037;0.017;0.606;0.038	T	0.46373	-0.9196	10	0.33141	T	0.24	.	7.4558	0.27266	0.4391:0.0:0.5609:0.0	.	64;45;81;81	E7ET40;E7ESM2;B2R7F2;P00749	.;.;.;UROK_HUMAN	N	64;81;45;45	ENSP00000388474:K64N;ENSP00000361850:K81N;ENSP00000361848:K45N	ENSP00000361847:K45N	K	+	3	2	PLAU	75342737	0.979000	0.34478	0.986000	0.45419	0.789000	0.44602	0.108000	0.15396	0.093000	0.17368	0.650000	0.86243	AAG		0.517	C10orf55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048746.1	NM_001001791		20	33	1	0	4.96729e-08	1	5.22757e-08	20	33					T	75672731	G	T	75672731	1	4	435	0	1	0	0	0	0	0	0	0	12022	991	35	5		5	PLAU	10	75672731	Intron	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	107369	75672731	59862016	4749	25674											
MYST4	23522	broad.mit.edu	37	chr10	76732345	76732345	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagctgcacaaataaaacgaCgatatgcaaaacccattgga	19	6	7	9	2	0	0	0	0	0	0	0	3	0	1	1	1	5	3	1	1	7	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:76732345C>T	ENST00000287239.4	+	7	1498	c.1009C>T	c.(1009-1011)Cga>Tga	p.R337*	KAT6B_ENST00000372724.1_Nonsense_Mutation_p.R337*|KAT6B_ENST00000372711.1_Nonsense_Mutation_p.R337*|KAT6B_ENST00000372714.1_Nonsense_Mutation_p.R337*|KAT6B_ENST00000372725.1_Nonsense_Mutation_p.R337*	NM_001256468.1|NM_012330.3	NP_001243397.1|NP_036462.2	Q8WYB5	KAT6B_HUMAN	K(lysine) acetyltransferase 6B	337					chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone H3 acetylation (GO:0043966)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	acetyltransferase activity (GO:0016407)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)										AATAAAACGACGATATGCAAA	0.328																																						ENST00000287239.4																			0											c.(1009-1011)Cga>Tga		K(lysine) acetyltransferase 6B							140	146	144					10																	76732345		2203	4300	6503	SO:0001587	stop_gained	23522				histone H3 acetylation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription factor binding|zinc ion binding	g.chr10:76732345C>T	AF113514	CCDS7345.1, CCDS58084.1, CCDS58085.1	10q22.2	2013-01-28	2011-07-21	2011-07-21	ENSG00000156650	ENSG00000156650		"Chromatin-modifying enzymes / K-acetyltransferases", "Zinc fingers, C2HC-type containing", "Zinc fingers, PHD-type"	17582	protein-coding gene	gene with protein product	"MOZ-related factor"	605880	"MYST histone acetyltransferase (monocytic leukemia) 4"	MYST4		9205841, 10497217	Standard	NM_012330		Approved	querkopf, qkf, Morf, MOZ2, ZC2HC6B	uc001jwn.2	Q8WYB5	OTTHUMG00000018509	ENST00000287239.4:c.1009C>T	10.37:g.76732345C>T	ENSP00000287239:p.Arg337*					KAT6B_ENST00000372724.1_Nonsense_Mutation_p.R337*|KAT6B_ENST00000372714.1_Nonsense_Mutation_p.R337*|KAT6B_ENST00000372725.1_Nonsense_Mutation_p.R337*|KAT6B_ENST00000372711.1_Nonsense_Mutation_p.R337*	p.R337*	NM_001256468.1|NM_012330.3	NP_001243397.1|NP_036462.2	Q8WYB5	MYST4_HUMAN			7	1498	+			337					O15087|Q86Y05|Q8WU81|Q9UKW2|Q9UKW3|Q9UKX0	Nonsense_Mutation	SNP	ENST00000287239.4	37	c.1009C>T	CCDS7345.1	.	.	.	.	.	.	.	.	.	.	C	41	8.797145	0.98958	.	.	ENSG00000156650	ENST00000372725;ENST00000372724;ENST00000287239;ENST00000372714;ENST00000372711	.	.	.	5.7	5.7	0.88788	.	0.000000	0.37715	N	0.001979	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-6.5539	19.827	0.96621	0.0:1.0:0.0:0.0	.	.	.	.	X	337	.	ENSP00000287239:R337X	R	+	1	2	KAT6B	76402351	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.539000	0.60657	2.685000	0.91497	0.655000	0.94253	CGA		0.328	KAT6B-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048771.1	NM_012330		47	64	0	0	0	1	0	47	64					T	76732345	C	T	76732345	4	4	435	1	0	0	0	0	0	1	0	0	10105	528	19	1	1027	1	MYST4	10	76732345	Nonsense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	1059614	76732345	58802402	4750	25675											
C10orf11	83938	broad.mit.edu	37	chr10	77542742	77542742	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gccttgaaatgaatggaaaaGtatttgtcactcagcggcaa	14	10	10	7	1	2	2	2	2	0	0	2	3	2	3	1	2	1	2	1	2	6	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:77542742G>T	ENST00000372499.1	+	1	224	c.9G>T	c.(7-9)aaG>aaT	p.K3N	C10orf11_ENST00000593699.1_Intron	NM_032024.3	NP_114413.1	Q9H2I8	CJ011_HUMAN	chromosome 10 open reading frame 11	3					melanocyte differentiation (GO:0030318)					endometrium(1)|large_intestine(4)|lung(4)|stomach(1)	10	Prostate(51;0.0095)|all_epithelial(25;0.0221)					GAATGGAAAAGTATTTGTCAC	0.418																																						ENST00000372499.1																			0				endometrium(1)|large_intestine(4)|lung(4)|stomach(1)	10						c.(7-9)aaG>aaT		chromosome 10 open reading frame 11							104	92	96					10																	77542742		2203	4300	6503	SO:0001583	missense	83938							g.chr10:77542742G>T	AF267860	CCDS7351.1	10q22.3	2013-08-22			ENSG00000148655	ENSG00000148655			23405	protein-coding gene	gene with protein product	"oculocutaneous albinism 7, autosomal recessive"	614537				23395477	Standard	NM_032024		Approved	CDA017, OCA7	uc001jxi.3	Q9H2I8	OTTHUMG00000018532	ENST00000372499.1:c.9G>T	10.37:g.77542742G>T	ENSP00000361577:p.Lys3Asn					C10orf11_ENST00000593699.1_Intron	p.K3N	NM_032024.3	NP_114413.1	Q9H2I8	CJ011_HUMAN			1	224	+	Prostate(51;0.0095)|all_epithelial(25;0.0221)		3					B1AVW6	Missense_Mutation	SNP	ENST00000372499.1	37	c.9G>T	CCDS7351.1	.	.	.	.	.	.	.	.	.	.	G	16.01	3.001972	0.54254	.	.	ENSG00000148655	ENST00000372499	T	0.25912	1.77	5.56	5.56	0.83823	.	.	.	.	.	T	0.56645	0.1999	M	0.81942	2.565	0.41375	D	0.987513	D	0.89917	1.0	D	0.85130	0.997	T	0.60949	-0.7161	9	0.72032	D	0.01	.	19.5275	0.95212	0.0:0.0:1.0:0.0	.	3	Q9H2I8	CJ011_HUMAN	N	3	ENSP00000361577:K3N	ENSP00000361577:K3N	K	+	3	2	C10orf11	77212748	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.726000	0.91474	2.616000	0.88540	0.563000	0.77884	AAG		0.418	C10orf11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048839.1	NM_032024		23	52	1	0	6.44725e-10	1	6.8705e-10	23	52					T	77542742	G	T	77542742	3	4	435	1	0	0	0	0	1	0	0	0	1582	1020	36	5	11	5	C10orf11	10	77542742	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	810397	77542742	57992005	4751	25676											
C10orf11	83938	broad.mit.edu	37	chr10	77795870	77795870	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	agggttacccagactgcataCcttaaccctcaacaagaacc	14	7	6	14	0	1	2	1	0	0	2	1	2	1	2	4	1	6	2	4	1	6	3	rs528847009		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:77795870C>A	ENST00000372499.1	+	2	367	c.152C>A	c.(151-153)aCc>aAc	p.T51N	C10orf11_ENST00000593699.1_3'UTR	NM_032024.3	NP_114413.1	Q9H2I8	CJ011_HUMAN	chromosome 10 open reading frame 11	51					melanocyte differentiation (GO:0030318)					endometrium(1)|large_intestine(4)|lung(4)|stomach(1)	10	Prostate(51;0.0095)|all_epithelial(25;0.0221)					AGACTGCATACCTTAACCCTC	0.577											OREG0020279	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000372499.1																			0				endometrium(1)|large_intestine(4)|lung(4)|stomach(1)	10						c.(151-153)aCc>aAc		chromosome 10 open reading frame 11							172	142	152					10																	77795870		2203	4300	6503	SO:0001583	missense	83938							g.chr10:77795870C>A	AF267860	CCDS7351.1	10q22.3	2013-08-22			ENSG00000148655	ENSG00000148655			23405	protein-coding gene	gene with protein product	"oculocutaneous albinism 7, autosomal recessive"	614537				23395477	Standard	NM_032024		Approved	CDA017, OCA7	uc001jxi.3	Q9H2I8	OTTHUMG00000018532	ENST00000372499.1:c.152C>A	10.37:g.77795870C>A	ENSP00000361577:p.Thr51Asn		OREG0020279	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1178	C10orf11_ENST00000593699.1_3'UTR	p.T51N	NM_032024.3	NP_114413.1	Q9H2I8	CJ011_HUMAN			2	367	+	Prostate(51;0.0095)|all_epithelial(25;0.0221)		51					B1AVW6	Missense_Mutation	SNP	ENST00000372499.1	37	c.152C>A	CCDS7351.1	.	.	.	.	.	.	.	.	.	.	C	18.94	3.728727	0.69074	.	.	ENSG00000148655	ENST00000354343;ENST00000372499	T	0.34859	1.34	4.83	4.83	0.62350	.	0.104587	0.64402	D	0.000005	T	0.56804	0.2010	L	0.56396	1.775	0.52501	D	0.999956	D	0.65815	0.995	D	0.71184	0.972	T	0.55939	-0.8061	10	0.44086	T	0.13	-13.3621	18.2759	0.90083	0.0:1.0:0.0:0.0	.	51	Q9H2I8	CJ011_HUMAN	N	79;51	ENSP00000361577:T51N	ENSP00000346310:T79N	T	+	2	0	C10orf11	77465876	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	7.382000	0.79729	2.387000	0.81309	0.462000	0.41574	ACC		0.577	C10orf11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048839.1	NM_032024		12	24	1	0	6.40141e-05	1	6.5734e-05	12	24					A	77795870	C	A	77795870	3	1	435	1	0	0	0	0	1	0	0	0	1582	507	18	5	158	5	C10orf11	10	77795870	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	253128	77795870	57738877	4752	25677											
DLG5	9231	broad.mit.edu	37	chr10	79581055	79581055	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggccttgcgagggggtgatgCgtgcatgggctccccggggt	3	8	20	10	3	0	1	0	1	0	0	1	2	1	1	3	6	3	2	3	6	0	1	rs368687321		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:79581055C>T	ENST00000372391.2	-	15	3192	c.3187G>A	c.(3187-3189)Gca>Aca	p.A1063T	DLG5_ENST00000459739.1_5'UTR|DLG5_ENST00000372388.2_Intron	NM_004747.3	NP_004738.3	Q8TDM6	DLG5_HUMAN	discs, large homolog 5 (Drosophila)	1063	Pro-rich.				apical protein localization (GO:0045176)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|intracellular signal transduction (GO:0035556)|metanephric collecting duct development (GO:0072205)|midbrain development (GO:0030901)|negative regulation of cell proliferation (GO:0008285)|polarized epithelial cell differentiation (GO:0030859)|protein complex assembly (GO:0006461)|protein localization to adherens junction (GO:0071896)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|zonula adherens assembly (GO:0045186)	cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|cytoskeletal protein binding (GO:0008092)|receptor signaling complex scaffold activity (GO:0030159)			breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	60	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)			GGGGGTGATGCGTGCATGGGC	0.647													C|||	1	0.000199681	8e-04	0	5008	,	,		15724	0		0	False		,,,				2504	0					ENST00000372391.2																			0				breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	60						c.(3187-3189)Gca>Aca		discs, large homolog 5 (Drosophila)		C	THR/ALA	2,4404	4.2+/-10.8	0,2,2201	33	34	34		3187	3	0	10		34	0,8600		0,0,4300	no	missense	DLG5	NM_004747.3	58	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	benign	1063/1920	79581055	2,13004	2203	4300	6503	SO:0001583	missense	9231				cell-cell adhesion|intracellular signal transduction|negative regulation of cell proliferation|regulation of apoptosis	cell junction|cytoplasm	beta-catenin binding|cytoskeletal protein binding|receptor signaling complex scaffold activity	g.chr10:79581055C>T	U61843	CCDS7353.2	10q23	2008-07-09	2001-11-28		ENSG00000151208	ENSG00000151208			2904	protein-coding gene	gene with protein product		604090	"discs, large (Drosophila) homolog 5"			9738934	Standard	XM_005270276		Approved	P-dlg, KIAA0583	uc001jzk.3	Q8TDM6	OTTHUMG00000018548	ENST00000372391.2:c.3187G>A	10.37:g.79581055C>T	ENSP00000361467:p.Ala1063Thr					DLG5_ENST00000459739.1_5'UTR|DLG5_ENST00000372388.2_Intron	p.A1063T	NM_004747.3	NP_004738.3	Q8TDM6	DLG5_HUMAN	Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)		15	3192	-	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		1063			Pro-rich.		A6H8Y3|Q149N1|Q5T1H7|Q5T1H8|Q6DKG3|Q86WC0|Q8TDM7|Q9UE73|Q9Y4E3	Missense_Mutation	SNP	ENST00000372391.2	37	c.3187G>A	CCDS7353.2	.	.	.	.	.	.	.	.	.	.	C	2.217	-0.379288	0.05000	4.54E-4	0.0	ENSG00000151208	ENST00000372391;ENST00000372392	T	0.04275	3.66	5.87	3.0	0.34707	.	0.395857	0.18665	N	0.134615	T	0.03959	0.0111	L	0.36672	1.1	0.19575	N	0.999968	B;B	0.06786	0.001;0.001	B;B	0.04013	0.001;0.001	T	0.44817	-0.9303	10	0.22109	T	0.4	.	5.8682	0.18789	0.1355:0.6589:0.0:0.2055	.	953;1063	Q8TDM6-4;Q8TDM6	.;DLG5_HUMAN	T	1063;612	ENSP00000361467:A1063T	ENSP00000361467:A1063T	A	-	1	0	DLG5	79251061	0.028000	0.19301	0.034000	0.17996	0.946000	0.59487	1.743000	0.38258	0.381000	0.24851	0.655000	0.94253	GCA		0.647	DLG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048900.2			10	16	0	0	0	1	0	10	16					T	79581055	C	T	79581055	3	4	435	1	0	0	0	0	1	0	0	0	4558	768	27	1	2644	1	DLG5	10	79581055	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	1785185	79581055	55953692	4753	25678											
DLG5	9231	broad.mit.edu	37	chr10	79581713	79581713	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccgtgtagaagatgtctgtCtgcgtggagttattgtgctg	6	15	14	6	2	2	2	0	0	2	2	3	3	3	3	1	1	2	3	1	1	3	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:79581713C>A	ENST00000372391.2	-	15	2534	c.2529G>T	c.(2527-2529)caG>caT	p.Q843H	DLG5_ENST00000459739.1_5'Flank|DLG5_ENST00000372388.2_Intron	NM_004747.3	NP_004738.3	Q8TDM6	DLG5_HUMAN	discs, large homolog 5 (Drosophila)	843					apical protein localization (GO:0045176)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|intracellular signal transduction (GO:0035556)|metanephric collecting duct development (GO:0072205)|midbrain development (GO:0030901)|negative regulation of cell proliferation (GO:0008285)|polarized epithelial cell differentiation (GO:0030859)|protein complex assembly (GO:0006461)|protein localization to adherens junction (GO:0071896)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|zonula adherens assembly (GO:0045186)	cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|cytoskeletal protein binding (GO:0008092)|receptor signaling complex scaffold activity (GO:0030159)			breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	60	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)			AGATGTCTGTCTGCGTGGAGT	0.537																																						ENST00000372391.2																			0				breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	60						c.(2527-2529)caG>caT		discs, large homolog 5 (Drosophila)							129	128	128					10																	79581713		2203	4300	6503	SO:0001583	missense	9231				cell-cell adhesion|intracellular signal transduction|negative regulation of cell proliferation|regulation of apoptosis	cell junction|cytoplasm	beta-catenin binding|cytoskeletal protein binding|receptor signaling complex scaffold activity	g.chr10:79581713C>A	U61843	CCDS7353.2	10q23	2008-07-09	2001-11-28		ENSG00000151208	ENSG00000151208			2904	protein-coding gene	gene with protein product		604090	"discs, large (Drosophila) homolog 5"			9738934	Standard	XM_005270276		Approved	P-dlg, KIAA0583	uc001jzk.3	Q8TDM6	OTTHUMG00000018548	ENST00000372391.2:c.2529G>T	10.37:g.79581713C>A	ENSP00000361467:p.Gln843His					DLG5_ENST00000372388.2_Intron	p.Q843H	NM_004747.3	NP_004738.3	Q8TDM6	DLG5_HUMAN	Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)		15	2534	-	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		843					A6H8Y3|Q149N1|Q5T1H7|Q5T1H8|Q6DKG3|Q86WC0|Q8TDM7|Q9UE73|Q9Y4E3	Missense_Mutation	SNP	ENST00000372391.2	37	c.2529G>T	CCDS7353.2	.	.	.	.	.	.	.	.	.	.	C	14.45	2.538007	0.45176	.	.	ENSG00000151208	ENST00000372391;ENST00000372392	T	0.06218	3.33	5.66	4.77	0.60923	.	0.000000	0.36972	N	0.002314	T	0.14270	0.0345	L	0.32530	0.975	0.80722	D	1	D;P	0.89917	1.0;0.863	D;P	0.91635	0.999;0.615	T	0.06023	-1.0850	10	0.33940	T	0.23	.	11.649	0.51277	0.0:0.8577:0.0:0.1423	.	733;843	Q8TDM6-4;Q8TDM6	.;DLG5_HUMAN	H	843;392	ENSP00000361467:Q843H	ENSP00000361467:Q843H	Q	-	3	2	DLG5	79251719	1.000000	0.71417	1.000000	0.80357	0.157000	0.22087	0.776000	0.26704	1.417000	0.47077	-0.192000	0.12808	CAG		0.537	DLG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048900.2			16	40	1	0	1.33834e-09	1	1.42249e-09	16	40					A	79581713	C	A	79581713	3	1	435	1	0	0	0	0	1	0	0	0	4558	912	32	5	3302	5	DLG5	10	79581713	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	658	79581713	55953034	4754	25679											
DLG5	9231	broad.mit.edu	37	chr10	79589981	79589981	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcctcaactcttaccttaagCggccatcagcaatgcttcct	9	11	6	15	1	3	0	2	0	1	0	4	0	4	0	4	1	5	2	4	1	4	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:79589981C>T	ENST00000372391.2	-	11	2008	c.2003G>A	c.(2002-2004)cGc>cAc	p.R668H	DLG5_ENST00000372388.2_Missense_Mutation_p.R668H	NM_004747.3	NP_004738.3	Q8TDM6	DLG5_HUMAN	discs, large homolog 5 (Drosophila)	668	PDZ 1. {ECO:0000255|PROSITE- ProRule:PRU00143}.				apical protein localization (GO:0045176)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|intracellular signal transduction (GO:0035556)|metanephric collecting duct development (GO:0072205)|midbrain development (GO:0030901)|negative regulation of cell proliferation (GO:0008285)|polarized epithelial cell differentiation (GO:0030859)|protein complex assembly (GO:0006461)|protein localization to adherens junction (GO:0071896)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|zonula adherens assembly (GO:0045186)	cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|cytoskeletal protein binding (GO:0008092)|receptor signaling complex scaffold activity (GO:0030159)			breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	60	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)			TTACCTTAAGCGGCCATCAGC	0.542																																						ENST00000372391.2																			0				breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	60						c.(2002-2004)cGc>cAc		discs, large homolog 5 (Drosophila)							99	87	91					10																	79589981		2203	4300	6503	SO:0001583	missense	9231				cell-cell adhesion|intracellular signal transduction|negative regulation of cell proliferation|regulation of apoptosis	cell junction|cytoplasm	beta-catenin binding|cytoskeletal protein binding|receptor signaling complex scaffold activity	g.chr10:79589981C>T	U61843	CCDS7353.2	10q23	2008-07-09	2001-11-28		ENSG00000151208	ENSG00000151208			2904	protein-coding gene	gene with protein product		604090	"discs, large (Drosophila) homolog 5"			9738934	Standard	XM_005270276		Approved	P-dlg, KIAA0583	uc001jzk.3	Q8TDM6	OTTHUMG00000018548	ENST00000372391.2:c.2003G>A	10.37:g.79589981C>T	ENSP00000361467:p.Arg668His					DLG5_ENST00000372388.2_Missense_Mutation_p.R668H	p.R668H	NM_004747.3	NP_004738.3	Q8TDM6	DLG5_HUMAN	Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)		11	2008	-	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		668			PDZ 1.		A6H8Y3|Q149N1|Q5T1H7|Q5T1H8|Q6DKG3|Q86WC0|Q8TDM7|Q9UE73|Q9Y4E3	Missense_Mutation	SNP	ENST00000372391.2	37	c.2003G>A	CCDS7353.2	.	.	.	.	.	.	.	.	.	.	C	20.4	3.990153	0.74589	.	.	ENSG00000151208	ENST00000372391;ENST00000372388;ENST00000372392	T;T	0.27557	1.66;1.66	5.47	5.47	0.80525	PDZ/DHR/GLGF (4);	0.000000	0.32459	N	0.006062	T	0.65512	0.2698	M	0.90019	3.08	0.44155	D	0.996958	P;D;D	0.89917	0.953;0.982;1.0	P;P;D	0.83275	0.631;0.804;0.996	T	0.72858	-0.4165	10	0.72032	D	0.01	.	19.3222	0.94246	0.0:1.0:0.0:0.0	.	558;668;668	Q8TDM6-4;Q8TDM6;Q8TDM6-2	.;DLG5_HUMAN;.	H	668;668;217	ENSP00000361467:R668H;ENSP00000361464:R668H	ENSP00000361464:R668H	R	-	2	0	DLG5	79259987	1.000000	0.71417	0.951000	0.38953	0.839000	0.47603	7.479000	0.81095	2.560000	0.86352	0.561000	0.74099	CGC		0.542	DLG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048900.2			13	22	0	0	0	1	0	13	22					T	79589981	C	T	79589981	3	4	435	1	0	0	0	0	1	0	0	0	4558	768	27	1	3844	1	DLG5	10	79589981	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	8268	79589981	55944766	4755	25680											
POLR3A	11128	broad.mit.edu	37	chr10	79739952	79739952	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtcaaagagatggtcagccGtcttctcaaaggaggccagc	11	7	12	11	2	4	1	3	0	2	1	5	3	4	2	2	3	2	0	2	3	2	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:79739952G>A	ENST00000372371.3	-	30	4108	c.3971C>T	c.(3970-3972)aCg>aTg	p.T1324M		NM_007055.3	NP_008986.2	O14802	RPC1_HUMAN	polymerase (RNA) III (DNA directed) polypeptide A, 155kDa	1324					defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of type I interferon production (GO:0032481)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|DNA-directed RNA polymerase III complex (GO:0005666)|membrane (GO:0016020)|nucleoplasm (GO:0005654)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|ribonucleoside binding (GO:0032549)|zinc ion binding (GO:0008270)			breast(1)|endometrium(7)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	all_cancers(46;0.0356)|all_epithelial(25;0.00102)|Breast(12;0.00124)|Prostate(51;0.0095)		Epithelial(14;0.00161)|OV - Ovarian serous cystadenocarcinoma(4;0.00323)|all cancers(16;0.00646)			ATGGTCAGCCGTCTTCTCAAA	0.502																																						ENST00000372371.3																			0				breast(1)|endometrium(7)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59						c.(3970-3972)aCg>aTg		polymerase (RNA) III (DNA directed) polypeptide A, 155kDa							167	124	139					10																	79739952		2203	4300	6503	SO:0001583	missense	11128				innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	DNA-directed RNA polymerase III complex	DNA binding|DNA-directed RNA polymerase activity|ribonucleoside binding|zinc ion binding	g.chr10:79739952G>A	AF021351	CCDS7354.1	10q22-q23	2013-01-21			ENSG00000148606	ENSG00000148606		"RNA polymerase subunits"	30074	protein-coding gene	gene with protein product		614258				9331371, 12391170	Standard	NM_007055		Approved	RPC1, RPC155, hRPC155	uc001jzn.3	O14802	OTTHUMG00000018550	ENST00000372371.3:c.3971C>T	10.37:g.79739952G>A	ENSP00000361446:p.Thr1324Met						p.T1324M	NM_007055.3	NP_008986.2	O14802	RPC1_HUMAN	Epithelial(14;0.00161)|OV - Ovarian serous cystadenocarcinoma(4;0.00323)|all cancers(16;0.00646)		30	4108	-	all_cancers(46;0.0356)|all_epithelial(25;0.00102)|Breast(12;0.00124)|Prostate(51;0.0095)		1324					Q8IW34|Q8TCW5	Missense_Mutation	SNP	ENST00000372371.3	37	c.3971C>T	CCDS7354.1	.	.	.	.	.	.	.	.	.	.	G	27.7	4.855137	0.91355	.	.	ENSG00000148606	ENST00000539141;ENST00000372371;ENST00000540842	T	0.80214	-1.35	5.84	5.84	0.93424	.	0.000000	0.85682	D	0.000000	D	0.92482	0.7613	M	0.92219	3.285	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.93383	0.6745	9	.	.	.	-22.3948	19.1144	0.93332	0.0:0.0:1.0:0.0	.	1324	O14802	RPC1_HUMAN	M	140;1324;1303	ENSP00000361446:T1324M	.	T	-	2	0	POLR3A	79409958	1.000000	0.71417	0.966000	0.40874	0.942000	0.58702	8.928000	0.92853	2.763000	0.94921	0.655000	0.94253	ACG		0.502	POLR3A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048923.1	NM_007055		20	23	0	0	0	1	0	20	23					A	79739952	G	A	79739952	3	1	435	1	0	0	0	0	1	0	0	0	12228	1145	40	1	209	1	POLR3A	10	79739952	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	149971	79739952	55794795	4756	25681											
ZMIZ1	57178	broad.mit.edu	37	chr10	81050916	81050916	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cggcccaactaccccggcagCgggggctttggggccaggtg	5	5	17	14	3	0	0	0	0	0	0	0	0	0	0	4	7	3	2	4	7	2	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:81050916C>T	ENST00000334512.5	+	10	1313	c.741C>T	c.(739-741)agC>agT	p.S247S	ZMIZ1_ENST00000478357.1_3'UTR	NM_020338.3	NP_065071.1	Q9ULJ6	ZMIZ1_HUMAN	zinc finger, MIZ-type containing 1	247					artery morphogenesis (GO:0048844)|cell aging (GO:0007569)|developmental growth (GO:0048589)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)|vasculogenesis (GO:0001570)|vitellogenesis (GO:0007296)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1)	30	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)			ACCCCGGCAGCGGGGGCTTTG	0.647																																						ENST00000334512.5																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1)	30						c.(739-741)agC>agT		zinc finger, MIZ-type containing 1							18	20	19					10																	81050916		2202	4300	6502	SO:0001819	synonymous_variant	57178				transcription, DNA-dependent	cytoplasm|nuclear speck	zinc ion binding	g.chr10:81050916C>T	AB033050	CCDS7357.1	10q22.3	2012-11-30	2006-10-24	2006-10-24	ENSG00000108175	ENSG00000108175		"Zinc fingers, MIZ-type"	16493	protein-coding gene	gene with protein product		607159	"retinoic acid induced 17"	RAI17		15626329	Standard	NM_020338		Approved	RP11-519K18.1, KIAA1224, FLJ13541, hZIMP10, Zimp10, MIZ	uc001kaf.2	Q9ULJ6	OTTHUMG00000018560	ENST00000334512.5:c.741C>T	10.37:g.81050916C>T						ZMIZ1_ENST00000478357.1_3'UTR	p.S247S	NM_020338.3	NP_065071.1	Q9ULJ6	ZMIZ1_HUMAN	Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)		10	1313	+	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		247					Q5JSH9|Q7Z7E6	Silent	SNP	ENST00000334512.5	37	c.741C>T	CCDS7357.1	.	.	.	.	.	.	.	.	.	.	C	3.941	-0.014246	0.07681	.	.	ENSG00000108175	ENST00000372347	.	.	.	5.67	-0.00824	0.14005	.	.	.	.	.	T	0.55593	0.1930	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.49021	-0.8982	5	0.39692	T	0.17	-19.9741	6.8607	0.24066	0.1142:0.4399:0.0:0.4459	.	.	.	.	W	179	.	ENSP00000361422:R179W	R	+	1	2	ZMIZ1	80720922	0.002000	0.14202	0.992000	0.48379	0.388000	0.30384	-0.800000	0.04555	-0.112000	0.11979	-1.814000	0.00607	CGG		0.647	ZMIZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048944.2	NM_020338		9	19	0	0	0	1	0	9	19					T	81050916	C	T	81050916	2	4	435	1	0	0	0	0	0	0	0	1	17693	767	27	1		1	ZMIZ1	10	81050916	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	1310964	81050916	54483831	4757	25682											
ZMIZ1	57178	broad.mit.edu	37	chr10	81056320	81056320	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aaccccccgaggccactcacCtcccccaactacccaggaca	11	3	5	22	1	1	0	1	0	0	0	2	2	2	1	8	2	3	0	8	2	3	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:81056320C>A	ENST00000334512.5	+	13	1895	c.1323C>A	c.(1321-1323)acC>acA	p.T441T	ZMIZ1_ENST00000478357.1_3'UTR	NM_020338.3	NP_065071.1	Q9ULJ6	ZMIZ1_HUMAN	zinc finger, MIZ-type containing 1	441	Pro-rich.				artery morphogenesis (GO:0048844)|cell aging (GO:0007569)|developmental growth (GO:0048589)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)|vasculogenesis (GO:0001570)|vitellogenesis (GO:0007296)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1)	30	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)			GGCCACTCACCTCCCCCAACT	0.632																																						ENST00000334512.5																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1)	30						c.(1321-1323)acC>acA		zinc finger, MIZ-type containing 1							61	70	67					10																	81056320		2203	4300	6503	SO:0001819	synonymous_variant	57178				transcription, DNA-dependent	cytoplasm|nuclear speck	zinc ion binding	g.chr10:81056320C>A	AB033050	CCDS7357.1	10q22.3	2012-11-30	2006-10-24	2006-10-24	ENSG00000108175	ENSG00000108175		"Zinc fingers, MIZ-type"	16493	protein-coding gene	gene with protein product		607159	"retinoic acid induced 17"	RAI17		15626329	Standard	NM_020338		Approved	RP11-519K18.1, KIAA1224, FLJ13541, hZIMP10, Zimp10, MIZ	uc001kaf.2	Q9ULJ6	OTTHUMG00000018560	ENST00000334512.5:c.1323C>A	10.37:g.81056320C>A						ZMIZ1_ENST00000478357.1_3'UTR	p.T441T	NM_020338.3	NP_065071.1	Q9ULJ6	ZMIZ1_HUMAN	Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)		13	1895	+	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		441			Pro-rich.		Q5JSH9|Q7Z7E6	Silent	SNP	ENST00000334512.5	37	c.1323C>A	CCDS7357.1																																																																																				0.632	ZMIZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048944.2	NM_020338		15	41	1	0	2.32078e-09	1	2.46314e-09	15	41					A	81056320	C	A	81056320	2	1	435	1	0	0	0	0	0	0	0	1	17693	668	24	5		5	ZMIZ1	10	81056320	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	5404	81056320	54478427	4758	25683											
ZMIZ1	57178	broad.mit.edu	37	chr10	81060603	81060603	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acgcccctcaccattgagcgCggcgacaacaagacctccca	11	4	8	18	4	1	2	1	1	0	1	2	3	2	2	5	1	2	0	5	1	2	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:81060603C>T	ENST00000334512.5	+	17	2495	c.1923C>T	c.(1921-1923)cgC>cgT	p.R641R		NM_020338.3	NP_065071.1	Q9ULJ6	ZMIZ1_HUMAN	zinc finger, MIZ-type containing 1	641					artery morphogenesis (GO:0048844)|cell aging (GO:0007569)|developmental growth (GO:0048589)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)|vasculogenesis (GO:0001570)|vitellogenesis (GO:0007296)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1)	30	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)			CCATTGAGCGCGGCGACAACA	0.642																																						ENST00000334512.5																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1)	30						c.(1921-1923)cgC>cgT		zinc finger, MIZ-type containing 1							115	110	112					10																	81060603		2203	4300	6503	SO:0001819	synonymous_variant	57178				transcription, DNA-dependent	cytoplasm|nuclear speck	zinc ion binding	g.chr10:81060603C>T	AB033050	CCDS7357.1	10q22.3	2012-11-30	2006-10-24	2006-10-24	ENSG00000108175	ENSG00000108175		"Zinc fingers, MIZ-type"	16493	protein-coding gene	gene with protein product		607159	"retinoic acid induced 17"	RAI17		15626329	Standard	NM_020338		Approved	RP11-519K18.1, KIAA1224, FLJ13541, hZIMP10, Zimp10, MIZ	uc001kaf.2	Q9ULJ6	OTTHUMG00000018560	ENST00000334512.5:c.1923C>T	10.37:g.81060603C>T							p.R641R	NM_020338.3	NP_065071.1	Q9ULJ6	ZMIZ1_HUMAN	Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)		17	2495	+	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		641					Q5JSH9|Q7Z7E6	Silent	SNP	ENST00000334512.5	37	c.1923C>T	CCDS7357.1																																																																																				0.642	ZMIZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048944.2	NM_020338		15	20	0	0	0	1	0	15	20					T	81060603	C	T	81060603	2	4	435	1	0	0	0	0	0	0	0	1	17693	755	27	1		1	ZMIZ1	10	81060603	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	4283	81060603	54474144	4759	25684											
SFTPA2	729238	broad.mit.edu	37	chr10	81319187	81319187	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgtccttcacttcgcacgcaGcaccagaggctgccatcaag	9	7	9	16	3	2	1	2	0	0	1	4	1	3	1	3	1	2	4	3	1	1	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:81319187G>A	ENST00000372325.2	-	3	137	c.53C>T	c.(52-54)gCt>gTt	p.A18V	SFTPA2_ENST00000372327.5_Missense_Mutation_p.A18V	NM_001098668.2	NP_001092138.1	Q8IWL1	SFPA2_HUMAN	surfactant protein A2	18					respiratory gaseous exchange (GO:0007585)	collagen trimer (GO:0005581)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	carbohydrate binding (GO:0030246)			endometrium(1)|kidney(1)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	9	all_cancers(46;0.197)|Breast(12;0.000326)|Prostate(51;0.00985)|all_epithelial(25;0.0149)		Epithelial(14;0.00957)|all cancers(16;0.0179)|Colorectal(32;0.229)			TTCGCACGCAGCACCAGAGGC	0.642									Pulmonary Fibrosis, Idiopathic																													ENST00000372325.2																			0				endometrium(1)|kidney(1)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	9						c.(52-54)gCt>gTt		surfactant protein A2							174	141	152					10																	81319187		2203	4296	6499	SO:0001583	missense	729238	Pulmonary Fibrosis, Idiopathic	Familial Cancer Database	Hamman-Rich syndrome, Fibrocystic Pulmonary Dysplasia	cell junction assembly|respiratory gaseous exchange	collagen|extracellular space	sugar binding	g.chr10:81319187G>A		CCDS41540.1	10q22.3	2012-11-02	2008-08-26			ENSG00000185303		"Collectins"	10799	protein-coding gene	gene with protein product	"surfactant, pulmonary-associated protein A2A"	178642	"surfactant, pulmonary-associated protein A2"				Standard	NM_001098668		Approved	SP-A2, COLEC5	uc001kal.4	Q8IWL1		ENST00000372325.2:c.53C>T	10.37:g.81319187G>A	ENSP00000361400:p.Ala18Val					SFTPA2_ENST00000372327.5_Missense_Mutation_p.A18V	p.A18V	NM_001098668.2	NP_001092138.1	Q8IWL1	SFPA2_HUMAN	Epithelial(14;0.00957)|all cancers(16;0.0179)|Colorectal(32;0.229)		3	137	-	all_cancers(46;0.197)|Breast(12;0.000326)|Prostate(51;0.00985)|all_epithelial(25;0.0149)		18					A4QPA7|B2RXI6|B2RXK9|C9J9I7|E3VLC6|E3VLC7|E3VLC8|E3VLC9|P07714|Q14DV3|Q5RIR8|Q5RIR9	Missense_Mutation	SNP	ENST00000372325.2	37	c.53C>T	CCDS41540.1	.	.	.	.	.	.	.	.	.	.	N	1.327	-0.597861	0.03771	.	.	ENSG00000185303	ENST00000372325;ENST00000537207;ENST00000372327;ENST00000417041	T;T;T	0.14893	2.47;2.47;2.47	2.78	-1.6	0.08426	.	1.379730	0.04537	N	0.387467	T	0.09774	0.0240	N	0.16743	0.435	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.33369	-0.9871	10	0.22706	T	0.39	0.1011	5.6632	0.17680	0.6367:0.0:0.3633:0.0	.	18	E3VLC8	.	V	18;33;18;18	ENSP00000361400:A18V;ENSP00000361402:A18V;ENSP00000397375:A18V	ENSP00000361400:A18V	A	-	2	0	SFTPA2	80989193	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-1.067000	0.03451	-0.143000	0.11334	0.536000	0.68110	GCT		0.642	SFTPA2-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048961.1	NM_001098668		18	65	0	0	0	1	0	18	65					A	81319187	G	A	81319187	3	1	435	1	0	0	0	0	1	0	0	0	14190	971	34	3	709	3	SFTPA2	10	81319187	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	258584	81319187	54215560	4760	25685											
MAT1A	4143	broad.mit.edu	37	chr10	82036245	82036245	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttgctccttcagggccctgcGcatctcctccagcgtgatgt	4	12	10	15	2	2	1	1	1	1	0	5	1	4	1	4	1	3	2	4	1	0	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:82036245G>A	ENST00000372213.3	-	6	915	c.655C>T	c.(655-657)Cgc>Tgc	p.R219C	MAT1A_ENST00000485270.1_5'Flank	NM_000429.2	NP_000420.1	Q00266	METK1_HUMAN	methionine adenosyltransferase I, alpha	219					cellular amino acid metabolic process (GO:0006520)|cellular nitrogen compound metabolic process (GO:0034641)|methylation (GO:0032259)|one-carbon metabolic process (GO:0006730)|S-adenosylmethionine biosynthetic process (GO:0006556)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|methionine adenosyltransferase activity (GO:0004478)	p.R219C(1)		endometrium(4)|large_intestine(7)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26			Colorectal(32;0.229)		L-Methionine(DB00134)|S-Adenosylmethionine(DB00118)	AGGGCCCTGCGCATCTCCTCC	0.587																																						ENST00000372213.3																			1	Substitution - Missense(1)	p.R219C(1)	large_intestine(1)	endometrium(4)|large_intestine(7)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26						c.(655-657)Cgc>Tgc		methionine adenosyltransferase I, alpha	L-Methionine(DB00134)|S-Adenosylmethionine(DB00118)						153	126	135					10																	82036245		2203	4300	6503	SO:0001583	missense	4143				methylation|S-adenosylmethionine biosynthetic process|xenobiotic metabolic process	cytosol	ATP binding|metal ion binding|methionine adenosyltransferase activity	g.chr10:82036245G>A		CCDS7365.1	10q22	2008-08-01			ENSG00000151224	ENSG00000151224			6903	protein-coding gene	gene with protein product	"S-adenosylmethionine synthetase"	610550				8393662	Standard	XM_005269842		Approved	MAT, SAMS, MATA1, SAMS1	uc001kbw.3	Q00266	OTTHUMG00000018613	ENST00000372213.3:c.655C>T	10.37:g.82036245G>A	ENSP00000361287:p.Arg219Cys						p.R219C	NM_000429.2	NP_000420.1	Q00266	METK1_HUMAN	Colorectal(32;0.229)		6	915	-			219					D3DWD5|Q5QP09	Missense_Mutation	SNP	ENST00000372213.3	37	c.655C>T	CCDS7365.1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.324913	0.81580	.	.	ENSG00000151224	ENST00000372213;ENST00000372206	D	0.84442	-1.85	4.84	4.84	0.62591	S-adenosylmethionine synthetase, central domain (1);S-adenosylmethionine synthetase superfamily (1);	0.374740	0.32769	N	0.005670	D	0.94604	0.8261	H	0.96805	3.885	0.80722	D	1	D	0.71674	0.998	D	0.66351	0.943	D	0.96052	0.9032	10	0.87932	D	0	-23.3135	15.8349	0.78791	0.0:0.0:1.0:0.0	.	219	Q00266	METK1_HUMAN	C	219	ENSP00000361287:R219C	ENSP00000361280:R219C	R	-	1	0	MAT1A	82026225	1.000000	0.71417	0.998000	0.56505	0.993000	0.82548	1.887000	0.39698	2.677000	0.91161	0.655000	0.94253	CGC		0.587	MAT1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049070.1	NM_000429		14	73	0	0	0	1	0	14	73					A	82036245	G	A	82036245	3	1	435	1	0	0	0	0	1	0	0	0	9329	1087	38	1	548	1	MAT1A	10	82036245	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	717058	82036245	53498502	4761	25686											
TSPAN14	81619	broad.mit.edu	37	chr10	82264514	82264514	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgtcttccttggagtcgggCtgtgggcatggagcgaaaag	7	11	16	7	2	1	0	0	0	1	0	3	3	2	2	1	4	1	2	1	4	2	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:82264514C>T	ENST00000429989.3	+	3	335	c.112C>T	c.(112-114)Ctg>Ttg	p.L38L	TSPAN14_ENST00000372164.3_Intron|TSPAN14_ENST00000372158.1_Silent_p.L38L|TSPAN14_ENST00000341863.6_Silent_p.L38L|TSPAN14_ENST00000372156.1_Silent_p.L38L|TSPAN14_ENST00000481124.1_Intron	NM_030927.2	NP_112189.2	Q8NG11	TSN14_HUMAN	tetraspanin 14	38					establishment of protein localization to plasma membrane (GO:0090002)|positive regulation of Notch signaling pathway (GO:0045747)|protein maturation (GO:0051604)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tetraspanin-enriched microdomain (GO:0097197)	enzyme binding (GO:0019899)			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1)|ovary(1)|skin(1)	7			Colorectal(32;0.229)			TGGAGTCGGGCTGTGGGCATG	0.517																																						ENST00000429989.2																			0				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1)|ovary(1)|skin(1)	7						c.(112-114)Ctg>Ttg		tetraspanin 14							211	178	189					10																	82264514		2203	4300	6503	SO:0001819	synonymous_variant	81619					integral to membrane		g.chr10:82264514C>T	AF311903	CCDS7369.1, CCDS44448.1	10q23.1	2013-02-14	2005-03-21	2005-03-21	ENSG00000108219	ENSG00000108219		"Tetraspanins"	23303	protein-coding gene	gene with protein product			"transmembrane 4 superfamily member 14"	TM4SF14		11230166	Standard	NM_030927		Approved	DC-TM4F2, MGC11352	uc001kcj.4	Q8NG11	OTTHUMG00000018615	ENST00000429989.3:c.112C>T	10.37:g.82264514C>T						TSPAN14_ENST00000372158.1_Silent_p.L38L|TSPAN14_ENST00000372164.3_Intron|TSPAN14_ENST00000481124.1_Intron|TSPAN14_ENST00000341863.6_Silent_p.L38L|TSPAN14_ENST00000372156.1_Silent_p.L38L	p.L38L	NM_030927.2	NP_112189.2	Q8NG11	TSN14_HUMAN	Colorectal(32;0.229)		3	335	+			38					A6NHE1|B4DHY6|D3DWD7|D3DWD8|Q567U7|Q9BU34|Q9H0U1	Silent	SNP	ENST00000429989.3	37	c.112C>T	CCDS7369.1																																																																																				0.517	TSPAN14-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049081.2	NM_030927		17	47	0	0	0	1	0	17	47					T	82264514	C	T	82264514	2	4	435	1	0	0	0	0	0	0	0	1	16635	796	28	3		3	TSPAN14	10	82264514	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	228269	82264514	53270233	4762	25687											
LRIT2	340745	broad.mit.edu	37	chr10	85984361	85984361	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actggacaagcccccttaggCgacagtcacatacccagggg	11	5	11	14	1	1	0	1	0	0	0	1	2	1	1	3	4	2	0	3	4	3	2	rs151197977		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:85984361C>T	ENST00000372113.4	-	2	625	c.620G>A	c.(619-621)cGc>cAc	p.R207H	LRIT2_ENST00000538192.1_Missense_Mutation_p.R207H	NM_001017924.2	NP_001017924.1	A6NDA9	LRIT2_HUMAN	leucine-rich repeat, immunoglobulin-like and transmembrane domains 2	207	LRRCT.					integral component of membrane (GO:0016021)				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(3)|prostate(6)|urinary_tract(1)	32						CCCCCTTAGGCGACAGTCACA	0.582																																						ENST00000372113.4																			0				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(3)|prostate(6)|urinary_tract(1)	32						c.(619-621)cGc>cAc		leucine-rich repeat, immunoglobulin-like and transmembrane domains 2		C	HIS/ARG	0,4406		0,0,2203	61	62	62		620	2.7	0.4	10	dbSNP_134	62	3,8597	3.0+/-9.4	0,3,4297	no	missense	LRIT2	NM_001017924.2	29	0,3,6500	TT,TC,CC		0.0349,0.0,0.0231	probably-damaging	207/551	85984361	3,13003	2203	4300	6503	SO:0001583	missense	340745					integral to membrane		g.chr10:85984361C>T		CCDS31234.1, CCDS60581.1	10q23.2	2013-01-11	2007-06-19	2007-06-19	ENSG00000204033	ENSG00000204033		"Immunoglobulin superfamily / I-set domain containing"	23443	protein-coding gene	gene with protein product			"leucine rich repeat containing 22"	LRRC22			Standard	NM_001017924		Approved	AC022389.4	uc001kcy.3	A6NDA9	OTTHUMG00000018633	ENST00000372113.4:c.620G>A	10.37:g.85984361C>T	ENSP00000361185:p.Arg207His					LRIT2_ENST00000538192.1_Missense_Mutation_p.R207H	p.R207H	NM_001017924.2	NP_001017924.1	A6NDA9	LRIT2_HUMAN			2	625	-			207			LRRCT.		B7ZME6	Missense_Mutation	SNP	ENST00000372113.4	37	c.620G>A	CCDS31234.1	.	.	.	.	.	.	.	.	.	.	C	17.10	3.304003	0.60305	0.0	3.49E-4	ENSG00000204033	ENST00000372113;ENST00000538192	T;T	0.52754	0.65;0.65	6.06	2.65	0.31530	Cysteine-rich flanking region, C-terminal (1);	0.049641	0.85682	D	0.000000	T	0.40570	0.1122	L	0.45352	1.415	0.58432	D	0.99999	D;P	0.58620	0.983;0.914	P;B	0.44394	0.448;0.369	T	0.26780	-1.0093	10	0.44086	T	0.13	.	11.0177	0.47698	0.0:0.7489:0.0:0.2511	.	207;207	B7ZME6;A6NDA9	.;LRIT2_HUMAN	H	207	ENSP00000361185:R207H;ENSP00000438264:R207H	ENSP00000361185:R207H	R	-	2	0	LRIT2	85974341	0.999000	0.42202	0.442000	0.26870	0.995000	0.86356	1.985000	0.40668	0.824000	0.34613	0.655000	0.94253	CGC		0.582	LRIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049110.4	XM_291697		11	20	0	0	0	1	0	11	20					T	85984361	C	T	85984361	3	4	435	1	0	0	0	0	1	0	0	0	8948	768	27	1	1040	1	LRIT2	10	85984361	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	3719847	85984361	49550386	4763	25688											
RGR	5995	broad.mit.edu	37	chr10	86017727	86017727	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgtatctatacgcagtcatcGcagacgtgacttccatctcc	9	12	7	13	3	3	2	1	1	2	1	6	2	4	2	2	0	1	3	2	0	3	4	rs558105831		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:86017727G>A	ENST00000359452.4	+	6	759	c.721G>A	c.(721-723)Gca>Aca	p.A241T	RGR_ENST00000358110.5_Intron|RGR_ENST00000479725.1_3'UTR	NM_001012720.1|NM_002921.3	NP_001012738.1|NP_002912.2	P47804	RGR_HUMAN	retinal G protein coupled receptor	237			S -> F. {ECO:0000269|PubMed:10581022}.		chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|phototransduction (GO:0007602)|protein-chromophore linkage (GO:0018298)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)	chemokine receptor activity (GO:0004950)|G-protein coupled receptor activity (GO:0004930)|photoreceptor activity (GO:0009881)			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|stomach(1)	17						CGCAGTCATCGCAGACGTGAC	0.512													G|||	1	0.000199681	0	0	5008	,	,		20018	0.001		0	False		,,,				2504	0				NSCLC(15;204 545 5889 6385 32445)	ENST00000359452.4																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|stomach(1)	17						c.(721-723)Gca>Aca		retinal G protein coupled receptor							89	77	81					10																	86017727		2203	4300	6503	SO:0001583	missense	5995				phototransduction|protein-chromophore linkage|visual perception	integral to plasma membrane	G-protein coupled receptor activity|photoreceptor activity|protein binding	g.chr10:86017727G>A	BC011349	CCDS7374.1, CCDS41543.1	10q23	2013-02-14			ENSG00000148604	ENSG00000148604		"GPCR / Class A : Opsin receptors"	9990	protein-coding gene	gene with protein product	"RGR-opsin"	600342				8641686	Standard	NM_002921		Approved	RP44	uc001kdd.1	P47804	OTTHUMG00000018636	ENST00000359452.4:c.721G>A	10.37:g.86017727G>A	ENSP00000352427:p.Ala241Thr					RGR_ENST00000358110.5_Intron|RGR_ENST00000479725.1_3'UTR	p.A241T	NM_001012720.1|NM_002921.3	NP_001012738.1|NP_002912.2	P47804	RGR_HUMAN			6	759	+			237		S -> F.			A6NKK7|Q96FC5	Missense_Mutation	SNP	ENST00000359452.4	37	c.721G>A	CCDS7374.1	.	.	.	.	.	.	.	.	.	.	G	15.89	2.966533	0.53507	.	.	ENSG00000148604	ENST00000359452	T	0.36878	1.23	4.65	0.364	0.16124	GPCR, rhodopsin-like superfamily (1);	0.367618	0.29900	N	0.010919	T	0.21145	0.0509	L	0.34521	1.04	0.09310	N	0.999999	B;B	0.19583	0.037;0.029	B;B	0.21546	0.011;0.035	T	0.16335	-1.0406	10	0.22109	T	0.4	.	5.0816	0.14659	0.3758:0.142:0.4822:0.0	.	241;237	P47804-2;P47804	.;RGR_HUMAN	T	241	ENSP00000352427:A241T	ENSP00000352427:A241T	A	+	1	0	RGR	86007707	0.001000	0.12720	0.000000	0.03702	0.734000	0.41952	0.969000	0.29370	-0.041000	0.13558	0.655000	0.94253	GCA		0.512	RGR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049116.1	NM_002921		9	25	0	0	0	1	0	9	25					A	86017727	G	A	86017727	3	1	435	1	0	0	0	0	1	0	0	0	13291	1087	38	1	743	1	RGR	10	86017727	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	33366	86017727	49517020	4764	25689											
FAM190B	54462	broad.mit.edu	37	chr10	86131100	86131100	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aaataattgatcctgaaaaaCgtgttcctactcaaggaatg	16	11	7	7	1	1	2	1	2	0	0	3	3	3	3	2	1	2	1	2	1	7	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:86131100C>T	ENST00000224756.8	+	2	477	c.292C>T	c.(292-294)Cgt>Tgt	p.R98C	CCSER2_ENST00000359979.4_Missense_Mutation_p.R98C|CCSER2_ENST00000372088.2_Missense_Mutation_p.R98C	NM_001284243.1|NM_018999.2	NP_001271172.1|NP_061872.2	Q9H7U1	CCSE2_HUMAN	coiled-coil serine-rich protein 2	98					microtubule bundle formation (GO:0001578)	microtubule cytoskeleton (GO:0015630)											TCCTGAAAAACGTGTTCCTAC	0.338																																						ENST00000224756.8																			0											c.(292-294)Cgt>Tgt		coiled-coil serine-rich protein 2							54	53	54					10																	86131100		2203	4299	6502	SO:0001583	missense	54462							g.chr10:86131100C>T		CCDS31235.1, CCDS60582.1, CCDS60583.1, CCDS73159.1	10q23.1	2012-12-03	2012-12-03	2012-12-03	ENSG00000107771	ENSG00000107771			29197	protein-coding gene	gene with protein product			"KIAA1128", "family with sequence similarity 190, member B"	KIAA1128, FAM190B		10574461	Standard	XM_005269905		Approved		uc001kdh.1	Q9H7U1	OTTHUMG00000018641	ENST00000224756.8:c.292C>T	10.37:g.86131100C>T	ENSP00000224756:p.Arg98Cys					CCSER2_ENST00000359979.4_Missense_Mutation_p.R98C|CCSER2_ENST00000372088.2_Missense_Mutation_p.R98C	p.R98C	NM_018999.2	NP_061872.2					2	477	+								B4DFY4|B4DQU9|B7WPE8|D3DWE2|Q8N6E9|Q9H2S0|Q9ULU1	Missense_Mutation	SNP	ENST00000224756.8	37	c.292C>T	CCDS31235.1	.	.	.	.	.	.	.	.	.	.	C	8.102	0.776929	0.16120	.	.	ENSG00000107771	ENST00000359979;ENST00000224756;ENST00000372088	T;T;T	0.42513	0.97;2.3;2.3	6.06	5.15	0.70609	.	0.381444	0.25442	N	0.030646	T	0.22781	0.0550	N	0.08118	0	0.80722	D	1	P;P;P	0.49447	0.61;0.924;0.629	B;B;B	0.40782	0.235;0.34;0.015	T	0.04255	-1.0965	10	0.33940	T	0.23	-5.8066	10.2074	0.43120	0.1538:0.6981:0.1481:0.0	.	98;98;98	Q9H7U1-3;Q9H7U1;Q9H7U1-2	.;F190B_HUMAN;.	C	98	ENSP00000353068:R98C;ENSP00000224756:R98C;ENSP00000361160:R98C	ENSP00000224756:R98C	R	+	1	0	FAM190B	86121080	0.980000	0.34600	0.883000	0.34634	0.282000	0.26991	2.116000	0.41930	1.550000	0.49438	0.655000	0.94253	CGT		0.338	CCSER2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049132.2	NM_018999		18	18	0	0	0	1	0	18	18					T	86131100	C	T	86131100	3	4	435	1	0	0	0	0	1	0	0	0	5522	536	19	1	294	1	FAM190B	10	86131100	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	113373	86131100	49403647	4765	25690											
LDB3	11155	broad.mit.edu	37	chr10	88441268	88441268	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cgagggccagcccaggcaccCcaggcaccccggagctcagg	8	1	14	18	2	1	0	1	0	0	0	1	2	1	1	6	5	2	3	6	5	0	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:88441268C>A	ENST00000361373.4	+	4	418	c.397C>A	c.(397-399)Cca>Aca	p.P133T	LDB3_ENST00000372066.3_Intron|LDB3_ENST00000263066.6_Intron|LDB3_ENST00000372056.4_Missense_Mutation_p.P133T|LDB3_ENST00000352360.5_Intron|LDB3_ENST00000429277.2_Missense_Mutation_p.P133T|LDB3_ENST00000542786.1_Missense_Mutation_p.P133T|LDB3_ENST00000310944.6_Missense_Mutation_p.P133T|LDB3_ENST00000458213.2_Intron	NM_007078.2	NP_009009.1			LIM domain binding 3											breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|soft_tissue(1)	25						CCCAGGCACCCCAGGCACCCC	0.736																																						ENST00000429277.2																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|soft_tissue(1)	25						c.(397-399)Cca>Aca		LIM domain binding 3							34	35	35					10																	88441268		2199	4297	6496	SO:0001583	missense	11155					cytoskeleton|perinuclear region of cytoplasm|pseudopodium	zinc ion binding	g.chr10:88441268C>A	AB014513	CCDS7377.1, CCDS41544.1, CCDS41545.1, CCDS53549.1, CCDS53550.1	10q22.3-q23.2	2014-09-17			ENSG00000122367	ENSG00000122367			15710	protein-coding gene	gene with protein product	"cypher", "oracle", "Z-band alternatively spliced PDZ motif protein"	605906	"cardiomyopathy, dilated 1C (autosomal dominant)"	CMD1C		10427098, 23271734, 23996002, 14662268	Standard	NM_001080114		Approved	PDLIM6, KIAA0613, ZASP	uc001kdv.3	O75112	OTTHUMG00000018655	ENST00000361373.4:c.397C>A	10.37:g.88441268C>A	ENSP00000355296:p.Pro133Thr					LDB3_ENST00000352360.5_Intron|LDB3_ENST00000310944.6_Missense_Mutation_p.P133T|LDB3_ENST00000361373.4_Missense_Mutation_p.P133T|LDB3_ENST00000263066.6_Intron|LDB3_ENST00000458213.2_Intron|LDB3_ENST00000542786.1_Missense_Mutation_p.P133T|LDB3_ENST00000372056.4_Missense_Mutation_p.P133T|LDB3_ENST00000372066.3_Intron	p.P133T	NM_001171610.1	NP_001165081.1	O75112	LDB3_HUMAN			5	542	+			133						Missense_Mutation	SNP	ENST00000361373.4	37	c.397C>A	CCDS7377.1	.	.	.	.	.	.	.	.	.	.	C	4.066	0.010093	0.07912	.	.	ENSG00000122367	ENST00000539402;ENST00000429277;ENST00000372056;ENST00000310944;ENST00000361373;ENST00000542786	T;T;T;T;T	0.52057	0.79;1.03;1.22;0.68;1.14	4.81	1.91	0.25777	.	0.573217	0.13262	N	0.401211	T	0.33614	0.0869	L	0.50333	1.59	0.09310	N	1	B;B;P;B;B	0.36282	0.008;0.01;0.546;0.008;0.156	B;B;B;B;B	0.35510	0.011;0.016;0.204;0.011;0.197	T	0.19745	-1.0296	10	0.07644	T	0.81	.	5.9629	0.19308	0.0:0.5843:0.125:0.2907	.	133;133;133;133;133	B4E3K3;F5H0C2;O75112-4;O75112;O75112-5	.;.;.;LDB3_HUMAN;.	T	133	ENSP00000401437:P133T;ENSP00000361126:P133T;ENSP00000311913:P133T;ENSP00000355296:P133T;ENSP00000438866:P133T	ENSP00000311913:P133T	P	+	1	0	LDB3	88431248	0.003000	0.15002	0.001000	0.08648	0.008000	0.06430	0.625000	0.24477	0.175000	0.19841	0.563000	0.77884	CCA		0.736	LDB3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000049160.2			13	35	1	0	0.00010058	1	0.000103117	13	35					A	88441268	C	A	88441268	3	1	435	1	0	0	0	0	1	0	0	0	8697	623	22	5	411	5	LDB3	10	88441268	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	2310168	88441268	47093479	4766	25691											
LDB3	11155	broad.mit.edu	37	chr10	88476313	88476313	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgcggagcctgccagccgTccaccctgggtgacagatga	7	6	13	15	2	0	3	0	2	0	1	1	4	1	4	6	2	4	0	6	2	0	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:88476313T>C	ENST00000361373.4	+	9	1482	c.1461T>C	c.(1459-1461)cgT>cgC	p.R487R	LDB3_ENST00000263066.6_Silent_p.R377R|LDB3_ENST00000352360.5_Silent_p.R230R|LDB3_ENST00000429277.2_Silent_p.R492R|LDB3_ENST00000458213.2_Silent_p.R377R	NM_007078.2	NP_009009.1			LIM domain binding 3											breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|soft_tissue(1)	25						CTGCCAGCCGTCCACCCTGGG	0.662																																						ENST00000429277.2																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|soft_tissue(1)	25						c.(1474-1476)cgT>cgC		LIM domain binding 3							75	81	79					10																	88476313		2203	4300	6503	SO:0001819	synonymous_variant	11155					cytoskeleton|perinuclear region of cytoplasm|pseudopodium	zinc ion binding	g.chr10:88476313T>C	AB014513	CCDS7377.1, CCDS41544.1, CCDS41545.1, CCDS53549.1, CCDS53550.1	10q22.3-q23.2	2014-09-17			ENSG00000122367	ENSG00000122367			15710	protein-coding gene	gene with protein product	"cypher", "oracle", "Z-band alternatively spliced PDZ motif protein"	605906	"cardiomyopathy, dilated 1C (autosomal dominant)"	CMD1C		10427098, 23271734, 23996002, 14662268	Standard	NM_001080114		Approved	PDLIM6, KIAA0613, ZASP	uc001kdv.3	O75112	OTTHUMG00000018655	ENST00000361373.4:c.1461T>C	10.37:g.88476313T>C						LDB3_ENST00000352360.5_Silent_p.R230R|LDB3_ENST00000361373.4_Silent_p.R487R|LDB3_ENST00000263066.6_Silent_p.R377R|LDB3_ENST00000458213.2_Silent_p.R377R	p.R492R	NM_001171610.1	NP_001165081.1	O75112	LDB3_HUMAN			10	1621	+			487						Silent	SNP	ENST00000361373.4	37	c.1476T>C	CCDS7377.1																																																																																				0.662	LDB3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000049160.2			37	49	0	0	0	1	0	37	49					C	88476313	T	C	88476313	2	2	435	1	0	0	0	0	0	0	0	1	8697	1654	58	4		4	LDB3	10	88476313	Silent	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	35045	88476313	47058434	4767	25692											
BMPR1A	657	broad.mit.edu	37	chr10	88677048	88677048	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtttcgagaaacagaaatctAccaaactgtgctaatgcgcc	14	9	8	10	2	1	2	0	0	1	2	2	3	1	2	2	0	5	2	2	0	5	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:88677048A>G	ENST00000372037.3	+	9	1370	c.833A>G	c.(832-834)tAc>tGc	p.Y278C		NM_004329.2	NP_004320.2	P36894	BMR1A_HUMAN	bone morphogenetic protein receptor, type IA	278	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				BMP signaling pathway (GO:0030509)|cartilage development (GO:0051216)|developmental growth (GO:0048589)|dorsal/ventral axis specification (GO:0009950)|ectoderm development (GO:0007398)|embryonic digit morphogenesis (GO:0042733)|embryonic organ development (GO:0048568)|endocardial cushion formation (GO:0003272)|heart formation (GO:0060914)|hindlimb morphogenesis (GO:0035137)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|lateral mesoderm development (GO:0048368)|lung development (GO:0030324)|mesendoderm development (GO:0048382)|mesoderm formation (GO:0001707)|Mullerian duct regression (GO:0001880)|negative regulation of neurogenesis (GO:0050768)|neural crest cell development (GO:0014032)|neural plate mediolateral regionalization (GO:0021998)|odontogenesis of dentin-containing tooth (GO:0042475)|palate development (GO:0060021)|paraxial mesoderm structural organization (GO:0048352)|pituitary gland development (GO:0021983)|positive regulation of bone mineralization (GO:0030501)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of lateral mesodermal cell fate specification (GO:0048378)|somitogenesis (GO:0001756)|stem cell maintenance (GO:0019827)|transforming growth factor beta receptor signaling pathway (GO:0007179)	dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|SMAD binding (GO:0046332)|transforming growth factor beta-activated receptor activity (GO:0005024)|transmembrane receptor protein serine/threonine kinase activity (GO:0004675)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|skin(1)|stomach(1)	24						ACAGAAATCTACCAAACTGTG	0.443			"Mis, N, F"			gastrointestinal polyps			Juvenile Polyposis;Hereditary Mixed Polyposis syndrome type 2																												Ovarian(190;603 2086 22044 30335 47971)	ENST00000372037.2			yes	Rec		Juvenile polyposis	10	10q22.3	657	"Mis, N, F"	"bone morphogenetic protein receptor, type IA"			E		gastrointestinal polyps			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|skin(1)|stomach(1)	24						c.(832-834)tAc>tGc		bone morphogenetic protein receptor, type IA							45	40	42					10																	88677048		2203	4300	6503	SO:0001583	missense	657	Juvenile Polyposis;Hereditary Mixed Polyposis syndrome type 2	Familial Cancer Database	incl.: Juvenile Polyposis of the Stomach;HMPS2	BMP signaling pathway|immune response|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|transforming growth factor beta receptor signaling pathway	integral to membrane|plasma membrane	ATP binding|metal ion binding|protein homodimerization activity|SMAD binding|transforming growth factor beta receptor activity	g.chr10:88677048A>G	BC028383	CCDS7378.1	10q22.3	2014-09-17			ENSG00000107779	ENSG00000107779		"CD molecules"	1076	protein-coding gene	gene with protein product		601299		ACVRLK3		8397373, 9730621	Standard	NM_004329		Approved	ALK3, CD292	uc001kdy.3	P36894	OTTHUMG00000018657	ENST00000372037.3:c.833A>G	10.37:g.88677048A>G	ENSP00000361107:p.Tyr278Cys						p.Y278C	NM_004329.2	NP_004320.2	P36894	BMR1A_HUMAN			9	1370	+			278			Protein kinase.		A8K6U9|Q8NEN8	Missense_Mutation	SNP	ENST00000372037.3	37	c.833A>G	CCDS7378.1	.	.	.	.	.	.	.	.	.	.	A	25.4	4.639169	0.87760	.	.	ENSG00000107779	ENST00000224764;ENST00000372037	T	0.65732	-0.17	5.68	5.68	0.88126	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.79347	0.4430	M	0.74389	2.26	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.81829	-0.0753	10	0.87932	D	0	.	16.2237	0.82280	1.0:0.0:0.0:0.0	.	278	P36894	BMR1A_HUMAN	C	278	ENSP00000361107:Y278C	ENSP00000224764:Y278C	Y	+	2	0	BMPR1A	88667028	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.339000	0.96797	2.289000	0.77006	0.482000	0.46254	TAC		0.443	BMPR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049170.3	NM_004329		5	19	0	0	0	1	0	5	19					G	88677048	A	G	88677048	3	3	435	1	0	0	0	0	1	0	0	0	1469	391	14	4	859	4	BMPR1A	10	88677048	Missense_Mutation	SNP	A	TCGA-XK-AAIW-01A-11D-A41K-08	200735	88677048	46857699	4768	25693											
MMRN2	79812	broad.mit.edu	37	chr10	88702705	88702705	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agcacctcctccccgaagagCgcggccagcaccgcctcgtg	7	4	11	19	5	0	1	0	0	0	1	3	2	2	1	7	1	3	2	7	1	1	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:88702705C>T	ENST00000372027.5	-	6	2157	c.1836G>A	c.(1834-1836)gcG>gcA	p.A612A	MMRN2_ENST00000488950.1_5'Flank	NM_024756.2	NP_079032.2	Q9H8L6	MMRN2_HUMAN	multimerin 2	612					angiogenesis (GO:0001525)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030948)	basement membrane (GO:0005604)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				breast(1)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|skin(1)|stomach(1)	19						CCCCGAAGAGCGCGGCCAGCA	0.741																																						ENST00000372027.4																			0				breast(1)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|skin(1)|stomach(1)	19						c.(1834-1836)gcG>gcA		multimerin 2							15	14	14					10																	88702705		2181	4277	6458	SO:0001819	synonymous_variant	79812					extracellular space		g.chr10:88702705C>T	AK023527	CCDS7379.1	10q23.31	2004-03-10	2004-03-02	2004-03-02	ENSG00000173269	ENSG00000173269		"EMI domain containing"	19888	protein-coding gene	gene with protein product		608925	"elastin microfibril interfacer 3"	EMILIN3		11559704	Standard	NM_024756		Approved	EndoGlyx-1, FLJ13465	uc001kea.3	Q9H8L6	OTTHUMG00000018663	ENST00000372027.5:c.1836G>A	10.37:g.88702705C>T							p.A612A	NM_024756.2	NP_079032.2	Q9H8L6	MMRN2_HUMAN			6	1909	-			612					Q504V7|Q6P2N2	Silent	SNP	ENST00000372027.5	37	c.1836G>A	CCDS7379.1																																																																																				0.741	MMRN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049179.2	NM_024756		4	3	0	0	0	1	0	4	3					T	88702705	C	T	88702705	2	4	435	1	0	0	0	0	0	0	0	1	9671	755	27	1		1	MMRN2	10	88702705	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	25657	88702705	46832042	4769	25694											
GLUD1	2746	broad.mit.edu	37	chr10	88820713	88820713	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ctttgggtcaataccatctgGattccatatactcccatcag	10	13	6	12	0	3	0	2	0	1	0	5	1	5	1	3	2	2	0	3	2	4	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:88820713G>T	ENST00000277865.4	-	7	1114	c.1018C>A	c.(1018-1020)Cca>Aca	p.P340T	GLUD1_ENST00000544149.1_Missense_Mutation_p.P207T|GLUD1_ENST00000465164.1_5'UTR|GLUD1_ENST00000537649.1_Missense_Mutation_p.P173T	NM_005271.3	NP_005262.1	P00367	DHE3_HUMAN	glutamate dehydrogenase 1	340					cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|glutamate biosynthetic process (GO:0006537)|glutamate catabolic process (GO:0006538)|glutamine metabolic process (GO:0006541)|positive regulation of insulin secretion (GO:0032024)|small molecule metabolic process (GO:0044281)|substantia nigra development (GO:0021762)|tricarboxylic acid metabolic process (GO:0072350)	cytoplasm (GO:0005737)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|glutamate dehydrogenase (NAD+) activity (GO:0004352)|glutamate dehydrogenase [NAD(P)+] activity (GO:0004353)|GTP binding (GO:0005525)|identical protein binding (GO:0042802)|leucine binding (GO:0070728)|NAD+ binding (GO:0070403)			endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(11)|prostate(1)	22					Hexachlorophene(DB00756)	ATACCATCTGGATTCCATATA	0.358																																						ENST00000277865.4																			0				endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(11)|prostate(1)	22						c.(1018-1020)Cca>Aca		glutamate dehydrogenase 1	L-Glutamic Acid(DB00142)|NADH(DB00157)						177	182	180					10																	88820713		2203	4298	6501	SO:0001583	missense	2746				glutamate biosynthetic process|glutamate catabolic process|positive regulation of insulin secretion	mitochondrial matrix	ADP binding|ATP binding|glutamate dehydrogenase|glutamate dehydrogenase activity|GTP binding|identical protein binding|leucine binding|NAD+ binding	g.chr10:88820713G>T	M20867	CCDS7382.1	10q23.2	2010-03-17			ENSG00000148672	ENSG00000148672	1.4.1.3		4335	protein-coding gene	gene with protein product		138130		GLUD		2757358	Standard	NM_005271		Approved	GDH	uc001keh.3	P00367	OTTHUMG00000018666	ENST00000277865.4:c.1018C>A	10.37:g.88820713G>T	ENSP00000277865:p.Pro340Thr					GLUD1_ENST00000465164.1_5'UTR|GLUD1_ENST00000544149.1_Missense_Mutation_p.P207T|GLUD1_ENST00000537649.1_Missense_Mutation_p.P173T	p.P340T	NM_005271.3	NP_005262.1	P00367	DHE3_HUMAN			7	1114	-			340					B3KV55|B4DGN5|Q5TBU3	Missense_Mutation	SNP	ENST00000277865.4	37	c.1018C>A	CCDS7382.1	.	.	.	.	.	.	.	.	.	.	G	16.69	3.191846	0.58017	.	.	ENSG00000148672	ENST00000277865;ENST00000394415;ENST00000537649;ENST00000535802;ENST00000513510;ENST00000544149	D;D;D	0.97328	-4.34;-4.34;-4.34	5.72	4.8	0.61643	Glutamate/phenylalanine/leucine/valine dehydrogenase, C-terminal (2);NAD(P)-binding domain (1);	0.217275	0.47852	D	0.000202	D	0.97604	0.9215	M	0.91406	3.205	0.80722	D	1	B;B	0.32203	0.084;0.36	B;B	0.39119	0.131;0.291	D	0.97823	1.0258	10	0.62326	D	0.03	-23.4795	15.7032	0.77558	0.0687:0.0:0.9313:0.0	.	207;340	B4DGN5;P00367	.;DHE3_HUMAN	T	340;297;173;39;272;207	ENSP00000277865:P340T;ENSP00000439291:P173T;ENSP00000444732:P207T	ENSP00000277865:P340T	P	-	1	0	GLUD1	88810693	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.617000	0.74210	2.878000	0.98634	0.650000	0.86243	CCA		0.358	GLUD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049188.1	NM_005271		74	137	1	0	2.22156e-40	1	2.49648e-40	74	137					T	88820713	G	T	88820713	3	4	435	1	0	0	0	0	1	0	0	0	6476	1174	41	5	686	5	GLUD1	10	88820713	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	118008	88820713	46714034	4770	25695											
FAM35A	54537	broad.mit.edu	37	chr10	88946859	88946859	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	taggccagcgttaatgactgCcattgatggaagacatgatg	12	10	12	7	1	0	4	0	3	0	1	0	5	0	5	2	2	2	1	2	2	3	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:88946859C>T	ENST00000298784.1	+	8	2324	c.2210C>T	c.(2209-2211)gCc>gTc	p.A737V	FAM35A_ENST00000298786.4_Missense_Mutation_p.A806V	NM_019054.2	NP_061927.2	Q86V20	FA35A_HUMAN	family with sequence similarity 35, member A	737										endometrium(2)|kidney(2)|large_intestine(5)|lung(1)|ovary(2)|prostate(2)|skin(2)	16						TTAATGACTGCCATTGATGGA	0.363																																					Ovarian(175;703 2004 25460 32514 43441)	ENST00000298786.4																			0				endometrium(2)|kidney(2)|large_intestine(5)|lung(1)|ovary(2)|prostate(2)|skin(2)	16						c.(2416-2418)gCc>gTc		family with sequence similarity 35, member A							186	154	165					10																	88946859		2203	4300	6503	SO:0001583	missense	54537							g.chr10:88946859C>T	BC051863	CCDS7383.1	10q23.2	2010-06-02			ENSG00000122376	ENSG00000122376			28773	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_019054		Approved	MGC5560, bA163M19.1, FAM35A1	uc001kei.4	Q86V20	OTTHUMG00000018669	ENST00000298784.1:c.2210C>T	10.37:g.88946859C>T	ENSP00000298784:p.Ala737Val					FAM35A_ENST00000298784.1_Missense_Mutation_p.A737V	p.A806V			Q86V20	FA35A_HUMAN			9	2531	+			737					O95885|Q9H991	Missense_Mutation	SNP	ENST00000298784.1	37	c.2417C>T	CCDS7383.1	.	.	.	.	.	.	.	.	.	.	C	0.008	-1.886122	0.00527	.	.	ENSG00000122376	ENST00000298786;ENST00000298784;ENST00000358313	T;T;T	0.15017	2.57;2.46;2.46	3.13	1.95	0.26073	.	0.302761	0.30667	N	0.009135	T	0.03011	0.0089	N	0.00413	-1.525	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.44097	-0.9350	10	0.02654	T	1	-0.8585	6.5126	0.22230	0.0:0.2046:0.0:0.7954	.	460;737	Q5VSZ0;Q86V20	.;FA35A_HUMAN	V	806;737;737	ENSP00000298786:A806V;ENSP00000298784:A737V;ENSP00000351064:A737V	ENSP00000298784:A737V	A	+	2	0	FAM35A	88936839	0.008000	0.16893	0.004000	0.12327	0.010000	0.07245	1.777000	0.38604	0.405000	0.25532	-1.441000	0.01070	GCC		0.363	FAM35A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049196.2	NM_019054		11	29	0	0	0	1	0	11	29					T	88946859	C	T	88946859	3	4	435	1	0	0	0	0	1	0	0	0	5553	739	26	3	2232	3	FAM35A	10	88946859	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	126146	88946859	46587888	4771	25696											
STAMBPL1	57559	broad.mit.edu	37	chr10	90673111	90673111	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gaacaattccttgctgaatgTatttgcagatcaacctaata	14	13	6	8	0	1	2	1	1	0	1	2	3	2	2	2	0	4	3	2	0	7	6			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:90673111T>C	ENST00000371926.3	+	6	1632	c.674T>C	c.(673-675)gTa>gCa	p.V225A	STAMBPL1_ENST00000371924.1_Missense_Mutation_p.V225A|STAMBPL1_ENST00000371922.1_Missense_Mutation_p.V59A|STAMBPL1_ENST00000371927.3_Missense_Mutation_p.V225A	NM_020799.3	NP_065850.1	Q96FJ0	STALP_HUMAN	STAM binding protein-like 1	225						membrane (GO:0016020)	metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)			breast(2)|endometrium(1)|large_intestine(2)|liver(2)|lung(2)|ovary(1)|skin(1)	11		Colorectal(252;0.0381)		Colorectal(12;6.38e-05)|COAD - Colon adenocarcinoma(12;7.75e-05)		TTGCTGAATGTATTTGCAGAT	0.468																																						ENST00000371927.3																			0				breast(2)|endometrium(1)|large_intestine(2)|liver(2)|lung(2)|ovary(1)|skin(1)	11						c.(673-675)gTa>gCa		STAM binding protein-like 1							127	118	121					10																	90673111		2203	4300	6503	SO:0001583	missense	57559						metal ion binding|metallopeptidase activity|protein binding	g.chr10:90673111T>C	AB037794	CCDS7391.1	10q23.32	2006-11-08			ENSG00000138134	ENSG00000138134			24105	protein-coding gene	gene with protein product	"associated molecule with the SH3 domain of STAM (AMSH) like protein", "associated molecule with the SH3 domain of STAM (AMSH) - Family Protein"	612352				12810066, 12943674	Standard	NM_020799		Approved	AMSH-LP, KIAA1373, AMSH-FP, FLJ31524, ALMalpha, bA399O19.2	uc001kfk.4	Q96FJ0	OTTHUMG00000018702	ENST00000371926.3:c.674T>C	10.37:g.90673111T>C	ENSP00000360994:p.Val225Ala					STAMBPL1_ENST00000371926.3_Missense_Mutation_p.V225A|STAMBPL1_ENST00000371922.1_Missense_Mutation_p.V59A|STAMBPL1_ENST00000371924.1_Missense_Mutation_p.V225A	p.V225A			Q96FJ0	STALP_HUMAN		Colorectal(12;6.38e-05)|COAD - Colon adenocarcinoma(12;7.75e-05)	6	1632	+		Colorectal(252;0.0381)	225					B3KPA7|Q5T9N4|Q5T9N9|Q7Z420|Q9P2H4	Missense_Mutation	SNP	ENST00000371926.3	37	c.674T>C	CCDS7391.1	.	.	.	.	.	.	.	.	.	.	T	2.271	-0.367070	0.05069	.	.	ENSG00000138134	ENST00000371926;ENST00000371927;ENST00000371924;ENST00000371922	T;T;T;T	0.22134	2.0;1.97;2.0;1.97	5.75	2.2	0.27929	.	0.589703	0.16180	N	0.225886	T	0.08313	0.0207	N	0.08118	0	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.10450	0.005;0.001	T	0.40757	-0.9546	10	0.06236	T	0.91	0.1715	7.7078	0.28661	0.0:0.3323:0.0:0.6677	.	225;225	Q96FJ0-2;Q96FJ0	.;STALP_HUMAN	A	225;225;225;59	ENSP00000360994:V225A;ENSP00000360995:V225A;ENSP00000360992:V225A;ENSP00000360990:V59A	ENSP00000360990:V59A	V	+	2	0	STAMBPL1	90663091	0.001000	0.12720	0.031000	0.17742	0.995000	0.86356	0.716000	0.25836	0.131000	0.18576	0.528000	0.53228	GTA		0.468	STAMBPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049283.1	NM_020799		44	58	0	0	0	1	0	44	58					C	90673111	T	C	90673111	3	2	435	1	0	0	0	0	1	0	0	0	15250	1638	57	4	692	4	STAMBPL1	10	90673111	Missense_Mutation	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	1726252	90673111	44861636	4772	25697											
IFIT2	3433	broad.mit.edu	37	chr10	91066443	91066443	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	aagaagccttggagaaagccCcaggtgtaacagatgttctt	13	9	11	8	0	1	3	0	0	1	3	1	4	1	3	3	2	3	2	3	2	4	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:91066443C>T	ENST00000371826.3	+	2	899	c.730C>T	c.(730-732)Cca>Tca	p.P244S	LIPA_ENST00000487618.1_Intron|LIPA_ENST00000371837.1_Intron	NM_001547.4	NP_001538.4	P09913	IFIT2_HUMAN	interferon-induced protein with tetratricopeptide repeats 2	244					apoptotic mitochondrial changes (GO:0008637)|cellular response to interferon-alpha (GO:0035457)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|negative regulation of protein binding (GO:0032091)|positive regulation of apoptotic process (GO:0043065)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)	poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(2)|large_intestine(5)|lung(2)|ovary(1)|skin(1)	12		Colorectal(252;0.0161)				GGAGAAAGCCCCAGGTGTAAC	0.438																																						ENST00000371826.3																			0				endometrium(1)|kidney(2)|large_intestine(5)|lung(2)|ovary(1)|skin(1)	12						c.(730-732)Cca>Tca		interferon-induced protein with tetratricopeptide repeats 2							78	78	78					10																	91066443		1982	4180	6162	SO:0001583	missense	3433				negative regulation of protein binding|response to virus|type I interferon-mediated signaling pathway		protein binding	g.chr10:91066443C>T	M14660	CCDS41548.1	10q23.31	2013-01-11			ENSG00000119922	ENSG00000119922		"Tetratricopeptide (TTC) repeat domain containing"	5409	protein-coding gene	gene with protein product		147040		IFI54, G10P2		3175763, 3360121	Standard	NM_001547		Approved	IFI-54, ISG-54K, cig42, GARG-39	uc009xts.3	P09913	OTTHUMG00000018707	ENST00000371826.3:c.730C>T	10.37:g.91066443C>T	ENSP00000360891:p.Pro244Ser					LIPA_ENST00000371837.1_Intron|LIPA_ENST00000487618.1_Intron	p.P244S	NM_001547.4	NP_001538.4	P09913	IFIT2_HUMAN			2	899	+		Colorectal(252;0.0161)	244					Q5T767	Missense_Mutation	SNP	ENST00000371826.3	37	c.730C>T	CCDS41548.1	.	.	.	.	.	.	.	.	.	.	C	0.022	-1.410572	0.01145	.	.	ENSG00000119922	ENST00000371826	T	0.55234	0.53	4.58	3.68	0.42216	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.217055	0.38959	N	0.001505	T	0.43986	0.1272	L	0.37897	1.145	0.48087	D	0.999581	P	0.51351	0.944	P	0.46362	0.514	T	0.25502	-1.0130	10	0.11794	T	0.64	-2.3938	12.9167	0.58211	0.0:0.9202:0.0:0.0798	.	244	P09913	IFIT2_HUMAN	S	244	ENSP00000360891:P244S	ENSP00000360891:P244S	P	+	1	0	IFIT2	91056423	0.096000	0.21769	0.124000	0.21820	0.066000	0.16364	0.952000	0.29149	1.533000	0.49186	0.655000	0.94253	CCA		0.438	IFIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049293.1	NM_001547		26	41	0	0	0	1	0	26	41					T	91066443	C	T	91066443	3	4	435	1	0	0	0	0	1	0	0	0	7523	623	22	3	736	3	IFIT2	10	91066443	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	393332	91066443	44468304	4773	25698											
IFIT2	3433	broad.mit.edu	37	chr10	91066770	91066770	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tagcagatcagtatgaagacGcagagtattacttccaaaag	16	9	9	7	1	1	4	1	1	0	3	2	4	2	4	1	0	2	4	1	0	7	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:91066770G>A	ENST00000371826.3	+	2	1226	c.1057G>A	c.(1057-1059)Gca>Aca	p.A353T	LIPA_ENST00000487618.1_Intron|LIPA_ENST00000371837.1_Intron	NM_001547.4	NP_001538.4	P09913	IFIT2_HUMAN	interferon-induced protein with tetratricopeptide repeats 2	353					apoptotic mitochondrial changes (GO:0008637)|cellular response to interferon-alpha (GO:0035457)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|negative regulation of protein binding (GO:0032091)|positive regulation of apoptotic process (GO:0043065)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)	poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(2)|large_intestine(5)|lung(2)|ovary(1)|skin(1)	12		Colorectal(252;0.0161)				GTATGAAGACGCAGAGTATTA	0.448																																						ENST00000371826.3																			0				endometrium(1)|kidney(2)|large_intestine(5)|lung(2)|ovary(1)|skin(1)	12						c.(1057-1059)Gca>Aca		interferon-induced protein with tetratricopeptide repeats 2							64	62	63					10																	91066770		1928	4137	6065	SO:0001583	missense	3433				negative regulation of protein binding|response to virus|type I interferon-mediated signaling pathway		protein binding	g.chr10:91066770G>A	M14660	CCDS41548.1	10q23.31	2013-01-11			ENSG00000119922	ENSG00000119922		"Tetratricopeptide (TTC) repeat domain containing"	5409	protein-coding gene	gene with protein product		147040		IFI54, G10P2		3175763, 3360121	Standard	NM_001547		Approved	IFI-54, ISG-54K, cig42, GARG-39	uc009xts.3	P09913	OTTHUMG00000018707	ENST00000371826.3:c.1057G>A	10.37:g.91066770G>A	ENSP00000360891:p.Ala353Thr					LIPA_ENST00000371837.1_Intron|LIPA_ENST00000487618.1_Intron	p.A353T	NM_001547.4	NP_001538.4	P09913	IFIT2_HUMAN			2	1226	+		Colorectal(252;0.0161)	353					Q5T767	Missense_Mutation	SNP	ENST00000371826.3	37	c.1057G>A	CCDS41548.1	.	.	.	.	.	.	.	.	.	.	G	27.2	4.806591	0.90623	.	.	ENSG00000119922	ENST00000371826	T	0.75050	-0.9	4.58	4.58	0.56647	Tetratricopeptide-like helical (1);	0.145202	0.45606	U	0.000351	D	0.83871	0.5348	L	0.58428	1.81	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.83825	0.0249	10	0.51188	T	0.08	-6.7691	17.6426	0.88140	0.0:0.0:1.0:0.0	.	353	P09913	IFIT2_HUMAN	T	353	ENSP00000360891:A353T	ENSP00000360891:A353T	A	+	1	0	IFIT2	91056750	1.000000	0.71417	0.993000	0.49108	0.868000	0.49771	6.721000	0.74728	2.832000	0.97577	0.655000	0.94253	GCA		0.448	IFIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049293.1	NM_001547		5	47	0	0	0	1	0	5	47					A	91066770	G	A	91066770	3	1	435	1	0	0	0	0	1	0	0	0	7523	1087	38	1	1063	1	IFIT2	10	91066770	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	327	91066770	44467977	4774	25699											
IFIT3	3437	broad.mit.edu	37	chr10	91099418	91099418	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgaatgcatactccgatctcGctgagttcctggagacggaa	10	10	11	10	3	1	3	0	2	1	1	4	6	3	4	2	2	2	3	2	2	3	2	rs151167903		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:91099418G>A	ENST00000371818.4	+	2	1186	c.1006G>A	c.(1006-1008)Gct>Act	p.A336T	LIPA_ENST00000487618.1_Intron|IFIT3_ENST00000371811.4_Missense_Mutation_p.A336T|LIPA_ENST00000371837.1_Intron	NM_001549.4	NP_001540.2	O14879	IFIT3_HUMAN	interferon-induced protein with tetratricopeptide repeats 3	336					cellular response to interferon-alpha (GO:0035457)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)	identical protein binding (GO:0042802)			breast(1)|central_nervous_system(3)|endometrium(1)|large_intestine(4)|lung(3)|skin(2)|urinary_tract(1)	15						CTCCGATCTCGCTGAGTTCCT	0.423																																						ENST00000371818.4																			0				breast(1)|central_nervous_system(3)|endometrium(1)|large_intestine(4)|lung(3)|skin(2)|urinary_tract(1)	15						c.(1006-1008)Gct>Act		interferon-induced protein with tetratricopeptide repeats 3			THR/ALA,THR/ALA	1,4405	2.1+/-5.4	0,1,2202	96	86	89		1006,1006	-5.4	0	10	dbSNP_134	89	0,8600		0,0,4300	no	missense,missense	IFIT3	NM_001031683.2,NM_001549.4	58,58	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign,benign	336/491,336/491	91099418	1,13005	2203	4300	6503	SO:0001583	missense	3437				type I interferon-mediated signaling pathway		protein binding	g.chr10:91099418G>A	U52513	CCDS7402.1, CCDS31241.1	10q23.31	2014-05-22	2004-07-16	2004-07-16	ENSG00000119917	ENSG00000119917		"Tetratricopeptide (TTC) repeat domain containing"	5411	protein-coding gene	gene with protein product		604650	"interferon-induced protein with tetratricopeptide repeats 4"	IFIT4		9828129, 9391139	Standard	NM_001031683		Approved	ISG60, RIG-G, CIG-49, IFI60, GARG-49, IRG2	uc001kgg.3	O14879	OTTHUMG00000018708	ENST00000371818.4:c.1006G>A	10.37:g.91099418G>A	ENSP00000360883:p.Ala336Thr					LIPA_ENST00000371837.1_Intron|IFIT3_ENST00000371811.4_Missense_Mutation_p.A336T|LIPA_ENST00000487618.1_Intron	p.A336T	NM_001549.4	NP_001540.2	O14879	IFIT3_HUMAN			2	1186	+			336					Q99634|Q9BSK7	Missense_Mutation	SNP	ENST00000371818.4	37	c.1006G>A	CCDS7402.1	.	.	.	.	.	.	.	.	.	.	G	11.71	1.719845	0.30503	2.27E-4	0.0	ENSG00000119917	ENST00000371818;ENST00000371811;ENST00000543062	T;T	0.55052	0.54;0.54	4.18	-5.45	0.02616	Tetratricopeptide-like helical (1);	0.495478	0.21138	N	0.079540	T	0.24470	0.0593	N	0.25245	0.725	0.09310	N	1	P	0.49635	0.926	B	0.38327	0.271	T	0.31280	-0.9949	10	0.54805	T	0.06	0.0723	2.7805	0.05359	0.1428:0.1362:0.4482:0.2728	.	336	O14879	IFIT3_HUMAN	T	336;336;157	ENSP00000360883:A336T;ENSP00000360876:A336T	ENSP00000360876:A336T	A	+	1	0	IFIT3	91089398	0.001000	0.12720	0.000000	0.03702	0.002000	0.02628	0.589000	0.23939	-0.977000	0.03537	-0.926000	0.02714	GCT		0.423	IFIT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049294.1	NM_001549		39	62	0	0	0	1	0	39	62					A	91099418	G	A	91099418	3	1	435	1	0	0	0	0	1	0	0	0	7524	1087	38	1	1021	1	IFIT3	10	91099418	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	32648	91099418	44435329	4775	25700											
IFIT1B	439996	broad.mit.edu	37	chr10	91143820	91143820	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgaccagtatatcttcacaGgcctatgtctttcaatatgc	10	14	6	11	0	4	1	2	1	2	0	4	1	4	1	2	1	1	1	2	1	5	6			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:91143820G>T	ENST00000371809.3	+	2	830	c.750G>T	c.(748-750)caG>caT	p.Q250H	LIPA_ENST00000371837.1_Intron	NM_001010987.2	NP_001010987.1	Q5T764	IFT1B_HUMAN	interferon-induced protein with tetratricopeptide repeats 1B	250										endometrium(2)|large_intestine(3)|lung(8)	13						TATCTTCACAGGCCTATGTCT	0.423																																						ENST00000371809.3																			0				endometrium(2)|large_intestine(3)|lung(8)	13						c.(748-750)caG>caT		interferon-induced protein with tetratricopeptide repeats 1B							132	142	139					10																	91143820		2203	4300	6503	SO:0001583	missense	439996						binding	g.chr10:91143820G>T		CCDS31242.1	10q23.31	2014-05-22	2010-03-22	2010-03-22	ENSG00000204010	ENSG00000204010		"Tetratricopeptide (TTC) repeat domain containing"	23442	protein-coding gene	gene with protein product			"interferon-induced protein with tetratricopeptide repeats 1-like"	IFIT1L			Standard	NM_001010987		Approved	bA149I23.6	uc001kgh.3	Q5T764	OTTHUMG00000018709	ENST00000371809.3:c.750G>T	10.37:g.91143820G>T	ENSP00000360874:p.Gln250His					LIPA_ENST00000371837.1_Intron	p.Q250H	NM_001010987.2	NP_001010987.1	Q5T764	IFT1B_HUMAN			2	830	+			250					A7E245	Missense_Mutation	SNP	ENST00000371809.3	37	c.750G>T	CCDS31242.1	.	.	.	.	.	.	.	.	.	.	G	8.870	0.949119	0.18356	.	.	ENSG00000204010	ENST00000371809	T	0.36699	1.24	4.05	1.67	0.24075	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.721838	0.13806	N	0.361452	T	0.25158	0.0611	L	0.45228	1.405	0.09310	N	1	B	0.20671	0.047	B	0.20577	0.03	T	0.29941	-0.9995	10	0.13853	T	0.58	.	6.3962	0.21613	0.2156:0.0:0.7844:0.0	.	250	Q5T764	IFT1B_HUMAN	H	250	ENSP00000360874:Q250H	ENSP00000360874:Q250H	Q	+	3	2	IFIT1B	91133800	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.106000	0.10890	0.149000	0.19098	0.557000	0.71058	CAG		0.423	IFIT1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049296.3	NM_001010987		6	145	1	0	0.217242	1	0.217582	6	145					T	91143820	G	T	91143820	3	4	435	1	0	0	0	0	1	0	0	0	7522	991	35	5	756	5	IFIT1B	10	91143820	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	44402	91143820	44390927	4776	25701											
IFIT1	3434	broad.mit.edu	37	chr10	91162577	91162577	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgaatccagcgctgggtatgCgatctctgcctatcgcctgg	6	11	12	12	3	1	1	0	1	1	0	4	2	2	1	3	2	3	2	3	2	3	2	rs146515241		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:91162577C>T	ENST00000371804.3	+	2	712	c.545C>T	c.(544-546)gCg>gTg	p.A182V	LIPA_ENST00000371837.1_Intron|IFIT1_ENST00000546318.1_Missense_Mutation_p.A151V	NM_001270927.1|NM_001548.4	NP_001257856.1|NP_001539.3	P09914	IFIT1_HUMAN	interferon-induced protein with tetratricopeptide repeats 1	182					cellular response to exogenous dsRNA (GO:0071360)|cellular response to type I interferon (GO:0071357)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|intracellular transport of viral protein in host cell (GO:0019060)|negative regulation of defense response to virus by host (GO:0050689)|negative regulation of helicase activity (GO:0051097)|negative regulation of protein binding (GO:0032091)|negative regulation of viral genome replication (GO:0045071)|positive regulation of viral genome replication (GO:0045070)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	RNA binding (GO:0003723)			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(2)|prostate(2)|upper_aerodigestive_tract(1)	15						GCTGGGTATGCGATCTCTGCC	0.478																																						ENST00000546318.1																			0				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(2)|prostate(2)|upper_aerodigestive_tract(1)	15						c.(451-453)gCg>gTg		interferon-induced protein with tetratricopeptide repeats 1		C	VAL/ALA	0,4406		0,0,2203	128	130	129		545	5.2	1	10	dbSNP_134	129	1,8599	1.2+/-3.3	0,1,4299	yes	missense	IFIT1	NM_001548.3	64	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	182/479	91162577	1,13005	2203	4300	6503	SO:0001583	missense	3434				cellular response to exogenous dsRNA|intracellular transport of viral proteins in host cell|negative regulation of defense response to virus by host|negative regulation of helicase activity|negative regulation of protein binding|negative regulation of viral genome replication|positive regulation of viral genome replication|response to virus|type I interferon-mediated signaling pathway	cytoplasm	protein binding	g.chr10:91162577C>T	M24594	CCDS31243.1, CCDS59220.1	10q23.31	2014-05-22			ENSG00000185745	ENSG00000185745		"Tetratricopeptide (TTC) repeat domain containing"	5407	protein-coding gene	gene with protein product		147690		G10P1, IFI56, IFNAI1		1377167, 3360121	Standard	NM_001548		Approved	GARG-16	uc001kgi.4	P09914	OTTHUMG00000018712	ENST00000371804.3:c.545C>T	10.37:g.91162577C>T	ENSP00000360869:p.Ala182Val					LIPA_ENST00000371837.1_Intron|IFIT1_ENST00000371804.3_Missense_Mutation_p.A182V	p.A151V	NM_001270928.1|NM_001270929.1|NM_001270930.1	NP_001257857.1|NP_001257858.1|NP_001257859.1	P09914	IFIT1_HUMAN			2	1739	+			182					B3KS50|D3DR31|Q5T7J1|Q96QM5	Missense_Mutation	SNP	ENST00000371804.3	37	c.452C>T	CCDS31243.1	.	.	.	.	.	.	.	.	.	.	C	18.58	3.654381	0.67472	0.0	1.16E-4	ENSG00000185745	ENST00000371804;ENST00000546318	T;T	0.77229	-1.08;-1.08	5.24	5.24	0.73138	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.128318	0.50627	D	0.000102	D	0.89093	0.6617	M	0.89095	3.005	0.52501	D	0.999953	D;D	0.89917	1.0;1.0	P;P	0.62298	0.9;0.9	D	0.90623	0.4561	10	0.59425	D	0.04	.	18.1674	0.89733	0.0:1.0:0.0:0.0	.	182;182	Q5T7J1;P09914	.;IFIT1_HUMAN	V	182;151	ENSP00000360869:A182V;ENSP00000441968:A151V	ENSP00000360869:A182V	A	+	2	0	IFIT1	91152557	0.999000	0.42202	0.952000	0.39060	0.013000	0.08279	4.613000	0.61176	2.585000	0.87301	0.557000	0.71058	GCG		0.478	IFIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049302.1	NM_001548		71	83	0	0	0	1	0	71	83					T	91162577	C	T	91162577	3	4	435	1	0	0	0	0	1	0	0	0	7521	768	27	1	551	1	IFIT1	10	91162577	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	18757	91162577	44372170	4777	25702											
SLC16A12	387700	broad.mit.edu	37	chr10	91198529	91198529	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ccataaacagaacggagacgGctaacacaacaaagtctgac	18	4	8	11	2	1	3	0	1	1	2	1	4	1	3	1	2	4	1	1	2	6	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:91198529G>A	ENST00000341233.4	-	6	1160	c.770C>T	c.(769-771)gCc>gTc	p.A257V	SLC16A12_ENST00000371790.4_Missense_Mutation_p.A287V	NM_213606.3	NP_998771.3	Q6ZSM3	MOT12_HUMAN	solute carrier family 16, member 12	257						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	symporter activity (GO:0015293)			central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(4)|skin(1)|stomach(1)	14						AACGGAGACGGCTAACACAAC	0.453																																						ENST00000341233.4																			0				central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(4)|skin(1)|stomach(1)	14						c.(769-771)gCc>gTc		solute carrier family 16, member 12							112	100	104					10																	91198529		2203	4300	6503	SO:0001583	missense	387700					integral to membrane|plasma membrane	symporter activity	g.chr10:91198529G>A		CCDS7404.1, CCDS7404.2	10q23.32	2013-07-18	2013-07-18		ENSG00000152779	ENSG00000152779		"Solute carriers"	23094	protein-coding gene	gene with protein product	"monocarboxylic acid transporter 12"	611910	"solute carrier family 16 (monocarboxylic acid transporters), member 12", "solute carrier family 16, member 12 (monocarboxylic acid transporter 12)"				Standard	NM_213606		Approved	MCT12	uc001kgm.3	Q6ZSM3	OTTHUMG00000018714	ENST00000341233.4:c.770C>T	10.37:g.91198529G>A	ENSP00000343022:p.Ala257Val					SLC16A12_ENST00000371790.4_Missense_Mutation_p.A287V	p.A257V	NM_213606.3	NP_998771.3	Q6ZSM3	MOT12_HUMAN			6	1160	-			257					Q5M9M9|Q5T7J2|Q6ZV76	Missense_Mutation	SNP	ENST00000341233.4	37	c.770C>T		.	.	.	.	.	.	.	.	.	.	G	18.13	3.556513	0.65425	.	.	ENSG00000152779	ENST00000341233;ENST00000371790;ENST00000544887	T;T	0.80909	-1.43;-1.43	5.62	4.71	0.59529	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.092272	0.85682	D	0.000000	D	0.85839	0.5790	L	0.56769	1.78	0.39476	D	0.967801	D	0.71674	0.998	D	0.69824	0.966	T	0.83308	-0.0024	10	0.11794	T	0.64	.	16.0071	0.80370	0.0:0.1348:0.8652:0.0	.	257	Q6ZSM3	MOT12_HUMAN	V	257;287;64	ENSP00000343022:A257V;ENSP00000360855:A287V	ENSP00000343022:A257V	A	-	2	0	SLC16A12	91188509	1.000000	0.71417	0.236000	0.24074	0.747000	0.42532	6.590000	0.74085	1.505000	0.48720	0.561000	0.74099	GCC		0.453	SLC16A12-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_213606		25	26	0	0	0	1	0	25	26					A	91198529	G	A	91198529	3	1	435	1	0	0	0	0	1	0	0	0	14405	1203	42	3	702	3	SLC16A12	10	91198529	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	35952	91198529	44336218	4778	25703											
PANK1	53354	broad.mit.edu	37	chr10	91371602	91371602	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagtgcaggttccctttgcGtccacacatggtcaggtttt	7	13	11	10	1	1	0	1	0	0	0	3	1	3	0	2	3	2	3	2	3	1	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:91371602G>A	ENST00000307534.4	-	2	1062	c.907C>T	c.(907-909)Cgc>Tgc	p.R303C	PANK1_ENST00000371774.2_Missense_Mutation_p.R105C|PANK1_ENST00000342512.3_Missense_Mutation_p.R78C|PANK1_ENST00000322191.6_Missense_Mutation_p.R78C	NM_148977.2	NP_683878.1	Q8TE04	PANK1_HUMAN	pantothenate kinase 1	303					coenzyme A biosynthetic process (GO:0015937)|coenzyme biosynthetic process (GO:0009108)|pantothenate metabolic process (GO:0015939)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cell periphery (GO:0071944)|clathrin coat (GO:0030118)|cytosol (GO:0005829)|nucleus (GO:0005634)|recycling endosome (GO:0055037)	ATP binding (GO:0005524)|pantothenate kinase activity (GO:0004594)			cervix(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)	11						TTCCCTTTGCGTCCACACATG	0.502																																						ENST00000307534.4																			0				cervix(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)	11						c.(907-909)Cgc>Tgc		pantothenate kinase 1	Bezafibrate(DB01393)						109	95	100					10																	91371602		2203	4300	6503	SO:0001583	missense	53354				coenzyme A biosynthetic process|pantothenate metabolic process	cytosol|nucleus	ATP binding|pantothenate kinase activity	g.chr10:91371602G>A	AF355198	CCDS7405.1, CCDS7406.1, CCDS31244.1	10q23.31	2008-05-14	2002-11-13	2002-11-15	ENSG00000152782	ENSG00000152782			8598	protein-coding gene	gene with protein product		606160	"pantothenate kinase"	PANK		11809413	Standard	NM_148977		Approved	MGC24596, PANK1a, PANK1b	uc001kgp.2	Q8TE04	OTTHUMG00000018718	ENST00000307534.4:c.907C>T	10.37:g.91371602G>A	ENSP00000302108:p.Arg303Cys					PANK1_ENST00000322191.6_Missense_Mutation_p.R78C|PANK1_ENST00000371774.2_Missense_Mutation_p.R105C|PANK1_ENST00000342512.3_Missense_Mutation_p.R78C	p.R303C	NM_148977.2	NP_683878.1	Q8TE04	PANK1_HUMAN			2	1062	-			303					A6NIP0|Q7RTX6|Q7Z495|Q8TBQ8	Missense_Mutation	SNP	ENST00000307534.4	37	c.907C>T	CCDS31244.1	.	.	.	.	.	.	.	.	.	.	G	23.3	4.393971	0.83011	.	.	ENSG00000152782	ENST00000342512;ENST00000322191;ENST00000371774;ENST00000307534;ENST00000371775	D;D;D;D	0.99548	-6.14;-6.14;-6.14;-6.14	6.11	6.11	0.99139	.	0.000000	0.85682	D	0.000000	D	0.99670	0.9877	M	0.85041	2.73	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.997;1.0;0.977;0.997	D	0.98421	1.0577	10	0.62326	D	0.03	.	20.7342	0.99715	0.0:0.0:1.0:0.0	.	105;303;78;78	Q8TE04-4;Q8TE04;Q8TE04-3;Q8TE04-2	.;PANK1_HUMAN;.;.	C	78;78;105;303;166	ENSP00000345118:R78C;ENSP00000318526:R78C;ENSP00000360839:R105C;ENSP00000302108:R303C	ENSP00000302108:R303C	R	-	1	0	PANK1	91361582	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.534000	0.60622	2.906000	0.99361	0.655000	0.94253	CGC		0.502	PANK1-201	KNOWN	basic|CCDS	protein_coding	protein_coding				8	47	0	0	0	1	0	8	47					A	91371602	G	A	91371602	3	1	435	1	0	0	0	0	1	0	0	0	11416	1145	40	1	913	1	PANK1	10	91371602	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	173073	91371602	44163145	4779	25704											
HTR7	3363	broad.mit.edu	37	chr10	92509039	92509039	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccattcagggcgatgacgctGtctggctccactcgagggaa	8	8	13	12	3	2	1	1	1	1	0	4	4	3	2	2	3	0	2	2	3	1	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:92509039G>A	ENST00000336152.3	-	2	878	c.852C>T	c.(850-852)gaC>gaT	p.D284D	HTR7_ENST00000371719.2_Silent_p.D284D|HTR7_ENST00000277874.6_Silent_p.D284D|HTR7_ENST00000371721.3_Silent_p.D284D	NM_019859.3	NP_062873.1	P34969	5HT7R_HUMAN	5-hydroxytryptamine (serotonin) receptor 7, adenylate cyclase-coupled	284					blood circulation (GO:0008015)|circadian rhythm (GO:0007623)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|serotonin receptor signaling pathway (GO:0007210)|smooth muscle contraction (GO:0006939)|synaptic transmission (GO:0007268)|vasoconstriction (GO:0042310)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	serotonin receptor activity (GO:0004993)			NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30					Amisulpride(DB06288)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Clozapine(DB00363)|Dopamine(DB00988)|Eletriptan(DB00216)|Epinastine(DB00751)|Ergoloid mesylate(DB01049)|Iloperidone(DB04946)|Imipramine(DB00458)|Loxapine(DB00408)|Lurasidone(DB08815)|Maprotiline(DB00934)|Methysergide(DB00247)|Mianserin(DB06148)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Quetiapine(DB01224)|Ziprasidone(DB00246)	CGATGACGCTGTCTGGCTCCA	0.502																																						ENST00000371721.3																			0				NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						c.(850-852)gaC>gaT		5-hydroxytryptamine (serotonin) receptor 7, adenylate cyclase-coupled	Eletriptan(DB00216)|Methysergide(DB00247)|Ziprasidone(DB00246)						60	53	55					10																	92509039		2203	4300	6503	SO:0001819	synonymous_variant	3363				blood circulation|circadian rhythm	integral to plasma membrane	protein binding|serotonin receptor activity	g.chr10:92509039G>A	BC047526	CCDS7408.1, CCDS7409.1, CCDS7410.1	10q21-q24	2012-08-08	2012-02-03		ENSG00000148680	ENSG00000148680		"5-HT (serotonin) receptors", "GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"	5302	protein-coding gene	gene with protein product		182137	"5-hydroxytryptamine (serotonin) receptor 7 (adenylate cyclase-coupled)"			8226867	Standard	NM_000872		Approved	5-HT7	uc001kha.3	P34969	OTTHUMG00000018732	ENST00000336152.3:c.852C>T	10.37:g.92509039G>A						HTR7_ENST00000277874.6_Silent_p.D284D|HTR7_ENST00000336152.3_Silent_p.D284D|HTR7_ENST00000371719.2_Silent_p.D284D	p.D284D			P34969	5HT7R_HUMAN			2	1094	-			284					B5BUP6|P78336|P78372|P78516|Q5VX01|Q5VX02|Q5VX03	Silent	SNP	ENST00000336152.3	37	c.852C>T	CCDS7408.1																																																																																				0.502	HTR7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000049343.1	NM_000872		14	11	0	0	0	1	0	14	11					A	92509039	G	A	92509039	2	1	435	1	0	0	0	0	0	0	0	1	7452	1368	48	3		3	HTR7	10	92509039	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	1137437	92509039	43025708	4780	25705											
HECTD2	143279	broad.mit.edu	37	chr10	93244322	93244322	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgctgcaatttatttctttaCgcctgtttcctgcaaagcct	7	17	6	11	1	1	0	0	0	1	0	2	0	2	0	3	0	5	4	3	0	4	6	rs201433936		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:93244322C>T	ENST00000298068.5	+	9	974	c.880C>T	c.(880-882)Cgc>Tgc	p.R294C	HECTD2_ENST00000371667.1_5'UTR|HECTD2_ENST00000446394.1_Missense_Mutation_p.R298C|HECTD2_ENST00000536715.1_5'UTR|HECTD2_ENST00000498446.1_3'UTR	NM_182765.3	NP_877497	Q5U5R9	HECD2_HUMAN	HECT domain containing E3 ubiquitin protein ligase 2	294					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			breast(2)|endometrium(2)|kidney(4)|large_intestine(10)|lung(7)|skin(1)|urinary_tract(1)	27						TATTTCTTTACGCCTGTTTCC	0.368																																					NSCLC(12;376 469 1699 39910 41417)	ENST00000446394.1																			0				breast(2)|endometrium(2)|kidney(4)|large_intestine(10)|lung(7)|skin(1)|urinary_tract(1)	27						c.(892-894)Cgc>Tgc		HECT domain containing E3 ubiquitin protein ligase 2		C	CYS/ARG	0,4406		0,0,2203	97	98	98		880	6	1	10		98	1,8599	1.2+/-3.3	0,1,4299	yes	missense	HECTD2	NM_182765.3	180	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	294/777	93244322	1,13005	2203	4300	6503	SO:0001583	missense	143279				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	ubiquitin-protein ligase activity	g.chr10:93244322C>T	AK094625	CCDS7414.1, CCDS7415.1, CCDS60591.1	10q23.32	2013-09-20	2012-02-23		ENSG00000165338	ENSG00000165338			26736	protein-coding gene	gene with protein product			"HECT domain containing 2"			8619474, 9110174	Standard	NM_001284274		Approved	FLJ37306	uc001khl.2	Q5U5R9	OTTHUMG00000018742	ENST00000298068.5:c.880C>T	10.37:g.93244322C>T	ENSP00000298068:p.Arg294Cys					HECTD2_ENST00000498446.1_3'UTR|HECTD2_ENST00000536715.1_5'UTR|HECTD2_ENST00000298068.5_Missense_Mutation_p.R294C|HECTD2_ENST00000371667.1_5'UTR	p.R298C			Q5U5R9	HECD2_HUMAN			10	992	+			294					Q5VZ97|Q5VZ98|Q5VZ99|Q8N1X7|Q8TCP5	Missense_Mutation	SNP	ENST00000298068.5	37	c.892C>T	CCDS7414.1	.	.	.	.	.	.	.	.	.	.	C	33	5.224611	0.95139	0.0	1.16E-4	ENSG00000165338	ENST00000446394;ENST00000371668;ENST00000298068	T;T	0.39787	1.08;1.06	5.97	5.97	0.96955	.	0.000000	0.85682	D	0.000000	T	0.69975	0.3171	M	0.87269	2.87	0.80722	D	1	D;D	0.89917	1.0;1.0	P;D	0.63957	0.794;0.92	T	0.73382	-0.4000	10	0.66056	D	0.02	.	20.4209	0.99038	0.0:1.0:0.0:0.0	.	298;294	E7ERR3;Q5U5R9	.;HECD2_HUMAN	C	298;20;294	ENSP00000401023:R298C;ENSP00000298068:R294C	ENSP00000298068:R294C	R	+	1	0	HECTD2	93234302	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.175000	0.77632	2.823000	0.97156	0.591000	0.81541	CGC		0.368	HECTD2-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098620.1			48	58	0	0	0	1	0	48	58					T	93244322	C	T	93244322	3	4	435	1	0	0	0	0	1	0	0	0	7040	536	19	1	938	1	HECTD2	10	93244322	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	735283	93244322	42290425	4781	25706											
BTAF1	9044	broad.mit.edu	37	chr10	93722417	93722417	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cctgtagtagaaagccttgtCtatcttcagacacaaaaggt	13	11	8	9	0	3	2	1	0	2	2	3	2	3	2	2	1	1	2	2	1	6	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:93722417C>T	ENST00000265990.6	+	12	1694	c.1386C>T	c.(1384-1386)gtC>gtT	p.V462V	BTAF1_ENST00000471217.1_3'UTR	NM_003972.2	NP_003963.1	O14981	BTAF1_HUMAN	BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170kDa	462					negative regulation of chromatin binding (GO:0035562)|negative regulation of transcription, DNA-templated (GO:0045892)	nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(6)	59		Colorectal(252;0.0846)				AAAGCCTTGTCTATCTTCAGA	0.338																																						ENST00000265990.6																			0				central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(6)	59						c.(1384-1386)gtC>gtT		BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170kDa							50	47	48					10																	93722417		2203	4300	6503	SO:0001819	synonymous_variant	9044				negative regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|helicase activity|sequence-specific DNA binding transcription factor activity	g.chr10:93722417C>T	AJ001017	CCDS7419.1	10q22-q23	2013-05-01	2013-05-01		ENSG00000095564	ENSG00000095564			17307	protein-coding gene	gene with protein product	"Mot1 homolog (S. cerevisiae)"	605191	"BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170 kD (Mot1 homolog, S. cerevisiae)"			9342322, 9488487	Standard	NM_003972		Approved	TAFII170, TAF172, MOT1, TAF-172, TAF(II)170	uc001khr.3	O14981	OTTHUMG00000018752	ENST00000265990.6:c.1386C>T	10.37:g.93722417C>T						BTAF1_ENST00000471217.1_3'UTR	p.V462V	NM_003972.2	NP_003963.1	O14981	BTAF1_HUMAN			12	1694	+		Colorectal(252;0.0846)	462					B4E0W6|O43578	Silent	SNP	ENST00000265990.6	37	c.1386C>T	CCDS7419.1																																																																																				0.338	BTAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049380.4	NM_003972		27	41	0	0	0	1	0	27	41					T	93722417	C	T	93722417	2	4	435	1	0	0	0	0	0	0	0	1	1536	900	32	3		3	BTAF1	10	93722417	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	478095	93722417	41812330	4782	25707											
BTAF1	9044	broad.mit.edu	37	chr10	93753481	93753481	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cttacctggtacaacggagaGgagctgaatttgctttgaca	11	11	11	8	1	0	3	0	2	0	1	0	5	0	4	1	3	5	3	1	3	4	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:93753481G>T	ENST00000265990.6	+	22	3384	c.3076G>T	c.(3076-3078)Gga>Tga	p.G1026*	BTAF1_ENST00000544642.1_5'Flank	NM_003972.2	NP_003963.1	O14981	BTAF1_HUMAN	BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170kDa	1026					negative regulation of chromatin binding (GO:0035562)|negative regulation of transcription, DNA-templated (GO:0045892)	nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(6)	59		Colorectal(252;0.0846)				ACAACGGAGAGGAGCTGAATT	0.358																																						ENST00000265990.6																			0				central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(6)	59						c.(3076-3078)Gga>Tga		BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170kDa							95	90	92					10																	93753481		2203	4300	6503	SO:0001587	stop_gained	9044				negative regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|helicase activity|sequence-specific DNA binding transcription factor activity	g.chr10:93753481G>T	AJ001017	CCDS7419.1	10q22-q23	2013-05-01	2013-05-01		ENSG00000095564	ENSG00000095564			17307	protein-coding gene	gene with protein product	"Mot1 homolog (S. cerevisiae)"	605191	"BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170 kD (Mot1 homolog, S. cerevisiae)"			9342322, 9488487	Standard	NM_003972		Approved	TAFII170, TAF172, MOT1, TAF-172, TAF(II)170	uc001khr.3	O14981	OTTHUMG00000018752	ENST00000265990.6:c.3076G>T	10.37:g.93753481G>T	ENSP00000265990:p.Gly1026*						p.G1026*	NM_003972.2	NP_003963.1	O14981	BTAF1_HUMAN			22	3384	+		Colorectal(252;0.0846)	1026					B4E0W6|O43578	Nonsense_Mutation	SNP	ENST00000265990.6	37	c.3076G>T	CCDS7419.1	.	.	.	.	.	.	.	.	.	.	G	44	10.714386	0.99455	.	.	ENSG00000095564	ENST00000265990	.	.	.	5.27	5.27	0.74061	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	18.8956	0.92421	0.0:0.0:1.0:0.0	.	.	.	.	X	1026	.	ENSP00000265990:G1026X	G	+	1	0	BTAF1	93743461	1.000000	0.71417	1.000000	0.80357	0.922000	0.55478	9.225000	0.95219	2.468000	0.83385	0.650000	0.86243	GGA		0.358	BTAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049380.4	NM_003972		26	32	1	0	6.12954e-19	1	6.77144e-19	26	32					T	93753481	G	T	93753481	4	4	435	1	0	0	0	0	0	1	0	0	1536	1001	35	5	3162	5	BTAF1	10	93753481	Nonsense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	31064	93753481	41781266	4783	25708											
MARCH5	54708	broad.mit.edu	37	chr10	94109442	94109442	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctctagggataggttgtcctGttcctcgaattccagctgag	7	13	11	10	1	1	1	0	1	1	0	5	3	4	2	3	2	1	3	3	2	3	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:94109442G>A	ENST00000358935.2	+	5	900	c.568G>A	c.(568-570)Gtt>Att	p.V190I	MARCH5_ENST00000467521.2_3'UTR	NM_017824.4	NP_060294.1	Q9NX47	MARH5_HUMAN	membrane-associated ring finger (C3HC4) 5	190					negative regulation of cell aging (GO:0090344)|positive regulation of mitochondrial fission (GO:0090141)|protein autoubiquitination (GO:0051865)|protein localization to mitochondrion (GO:0070585)|protein polyubiquitination (GO:0000209)|regulation of mitochondrial fission (GO:0090140)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)	GTPase binding (GO:0051020)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|skin(1)|urinary_tract(1)	9						AGGTTGTCCTGTTCCTCGAAT	0.413																																						ENST00000358935.2																			0				endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|skin(1)|urinary_tract(1)	9						c.(568-570)Gtt>Att		membrane-associated ring finger (C3HC4) 5							321	319	320					10																	94109442		2203	4300	6503	SO:0001583	missense	54708				cell aging|protein autoubiquitination|protein localization in mitochondrion|protein polyubiquitination|regulation of mitochondrial fission	endoplasmic reticulum membrane|integral to membrane|mitochondrial outer membrane	GTPase binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr10:94109442G>A	BC015480	CCDS7420.1	10q23.32-q23.33	2013-01-09	2005-01-26	2005-01-27	ENSG00000198060	ENSG00000198060		"MARCH membrane-associated ring fingers", "RING-type (C3HC4) zinc fingers"	26025	protein-coding gene	gene with protein product		610637	"ring finger protein 153"	RNF153		14722266	Standard	XM_005269923		Approved	FLJ20445, MARCH-V	uc001khx.1	Q9NX47	OTTHUMG00000018757	ENST00000358935.2:c.568G>A	10.37:g.94109442G>A	ENSP00000351813:p.Val190Ile					MARCH5_ENST00000467521.2_3'UTR	p.V190I	NM_017824.4	NP_060294.1	Q9NX47	MARH5_HUMAN			5	900	+			190						Missense_Mutation	SNP	ENST00000358935.2	37	c.568G>A	CCDS7420.1	.	.	.	.	.	.	.	.	.	.	G	16.93	3.257187	0.59321	.	.	ENSG00000198060	ENST00000358935	T	0.43294	0.95	6.02	6.02	0.97574	.	0.000000	0.85682	D	0.000000	T	0.33294	0.0858	N	0.22421	0.69	0.80722	D	1	B	0.16603	0.018	B	0.09377	0.004	T	0.07385	-1.0775	10	0.21014	T	0.42	-17.3084	20.5407	0.99260	0.0:0.0:1.0:0.0	.	190	Q9NX47	MARH5_HUMAN	I	190	ENSP00000351813:V190I	ENSP00000351813:V190I	V	+	1	0	MARCH5	94099422	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.616000	0.98359	2.865000	0.98341	0.655000	0.94253	GTT		0.413	MARCH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049388.1	NM_017824		125	174	0	0	0	1	0	125	174					A	94109442	G	A	94109442	3	1	435	1	0	0	0	0	1	0	0	0	9304	1377	48	3	586	3	MARCH5	10	94109442	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	355961	94109442	41425305	4784	25709											
IDE	3416	broad.mit.edu	37	chr10	94228698	94228698	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaaggagaggtttggtatgaGcatgttcaatgagggtgtct	10	12	16	3	0	2	3	1	2	1	1	2	5	2	3	0	4	1	4	0	4	3	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:94228698G>T	ENST00000265986.6	-	19	2314	c.2258C>A	c.(2257-2259)gCt>gAt	p.A753D	IDE_ENST00000371581.5_Missense_Mutation_p.A198D|IDE_ENST00000496903.1_5'UTR	NM_004969.3	NP_004960.2	P14735	IDE_HUMAN	insulin-degrading enzyme	753					beta-amyloid metabolic process (GO:0050435)|bradykinin catabolic process (GO:0010815)|determination of adult lifespan (GO:0008340)|hormone catabolic process (GO:0042447)|insulin catabolic process (GO:1901143)|insulin metabolic process (GO:1901142)|insulin receptor signaling pathway (GO:0008286)|negative regulation of proteolysis (GO:0045861)|positive regulation of protein oligomerization (GO:0032461)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|protein homotetramerization (GO:0051289)|proteolysis (GO:0006508)|proteolysis involved in cellular protein catabolic process (GO:0051603)|ubiquitin homeostasis (GO:0010992)|viral process (GO:0016032)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic proteasome complex (GO:0031597)|extracellular space (GO:0005615)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|beta-amyloid binding (GO:0001540)|beta-endorphin binding (GO:0031626)|glycoprotein binding (GO:0001948)|insulin binding (GO:0043559)|metalloendopeptidase activity (GO:0004222)|peptide binding (GO:0042277)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|ubiquitin binding (GO:0043130)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|urinary_tract(2)	33					"""Insulin(DB00071)|Bacitracin(DB00626)|Insulin Regular(DB00030)"	TTTGGTATGAGCATGTTCAAT	0.398																																						ENST00000265986.6																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|urinary_tract(2)	33						c.(2257-2259)gCt>gAt		insulin-degrading enzyme	Bacitracin(DB00626)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)						124	113	116					10																	94228698		2203	4300	6503	SO:0001583	missense	3416				beta-amyloid metabolic process|bradykinin catabolic process|interspecies interaction between organisms|sex differentiation	cell surface|extracellular space|soluble fraction	ATP binding|metalloendopeptidase activity|protein homodimerization activity|signal transducer activity|zinc ion binding	g.chr10:94228698G>T	M21188	CCDS7421.1, CCDS53554.1	10q23-q25	2007-03-27			ENSG00000119912	ENSG00000119912			5381	protein-coding gene	gene with protein product	"insulysin"	146680				2293021	Standard	NM_004969		Approved		uc001kia.3	P14735	OTTHUMG00000018759	ENST00000265986.6:c.2258C>A	10.37:g.94228698G>T	ENSP00000265986:p.Ala753Asp					IDE_ENST00000496903.1_5'UTR|IDE_ENST00000371581.5_Missense_Mutation_p.A198D	p.A753D	NM_004969.3	NP_004960.2	P14735	IDE_HUMAN			19	2314	-			753					B2R721|B7ZAU2|D3DR35|Q5T5N2	Missense_Mutation	SNP	ENST00000265986.6	37	c.2258C>A	CCDS7421.1	.	.	.	.	.	.	.	.	.	.	G	19.27	3.796299	0.70567	.	.	ENSG00000119912	ENST00000265986;ENST00000371581	T;T	0.06933	3.24;3.24	5.6	5.6	0.85130	Peptidase M16, C-terminal (1);Metalloenzyme, LuxS/M16 peptidase-like, metal-binding (1);	0.000000	0.85682	D	0.000000	T	0.09379	0.0231	L	0.39147	1.195	0.80722	D	1	P;P	0.36183	0.517;0.542	B;B	0.35727	0.139;0.209	T	0.28427	-1.0044	10	0.11794	T	0.64	-11.1077	19.2269	0.93821	0.0:0.0:1.0:0.0	.	753;198	P14735;B3KSB8	IDE_HUMAN;.	D	753;198	ENSP00000265986:A753D;ENSP00000360637:A198D	ENSP00000265986:A753D	A	-	2	0	IDE	94218678	1.000000	0.71417	1.000000	0.80357	0.847000	0.48162	9.134000	0.94467	2.638000	0.89438	0.655000	0.94253	GCT		0.398	IDE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049393.1	NM_004969		14	18	1	0	3.52763e-06	1	3.66169e-06	14	18					T	94228698	G	T	94228698	3	4	435	1	0	0	0	0	1	0	0	0	7493	971	34	5	829	5	IDE	10	94228698	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	119256	94228698	41306049	4785	25710											
KIF11	3832	broad.mit.edu	37	chr10	94368802	94368802	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cttggctggtataattccacGtacccttcatcaaatttttg	9	16	6	10	1	2	0	2	0	0	0	3	0	3	0	2	2	1	3	2	2	4	8			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:94368802G>A	ENST00000260731.3	+	5	503	c.413G>A	c.(412-414)cGt>cAt	p.R138H		NM_004523.3	NP_004514.2	P52732	KIF11_HUMAN	kinesin family member 11	138	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|chromosome segregation (GO:0007059)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic centrosome separation (GO:0007100)|mitotic nuclear division (GO:0007067)|mitotic spindle organization (GO:0007052)|spindle assembly involved in mitosis (GO:0090307)|spindle organization (GO:0007051)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)|spindle (GO:0005819)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)|protein complex binding (GO:0032403)|protein kinase binding (GO:0019901)			breast(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						ATAATTCCACGTACCCTTCAT	0.348																																					Colon(47;212 1003 2764 4062 8431)	ENST00000260731.3																			0				breast(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(412-414)cGt>cAt		kinesin family member 11							57	59	58					10																	94368802		2202	4299	6501	SO:0001583	missense	3832				blood coagulation|cell division|microtubule-based movement|spindle assembly involved in mitosis	chromatin remodeling complex|cytosol|kinesin complex|microtubule|spindle pole	ATP binding|microtubule motor activity|protein kinase binding	g.chr10:94368802G>A	X85137	CCDS7422.1	10q24.1	2008-03-03	2003-01-09	2003-01-10	ENSG00000138160	ENSG00000138160		"Kinesins"	6388	protein-coding gene	gene with protein product		148760	"kinesin-like 1"	KNSL1		1505978, 8548803	Standard	NM_004523		Approved	Eg5, HKSP, TRIP5	uc001kic.3	P52732	OTTHUMG00000018761	ENST00000260731.3:c.413G>A	10.37:g.94368802G>A	ENSP00000260731:p.Arg138His						p.R138H	NM_004523.3	NP_004514.2	P52732	KIF11_HUMAN			5	503	+			138			Kinesin-motor.		A0AV49|B2RMV3|Q15716|Q5VWX0	Missense_Mutation	SNP	ENST00000260731.3	37	c.413G>A	CCDS7422.1	.	.	.	.	.	.	.	.	.	.	G	27.5	4.836919	0.91117	.	.	ENSG00000138160	ENST00000260731	T	0.79247	-1.25	5.54	5.54	0.83059	Kinesin, motor domain (4);	0.000000	0.85682	D	0.000000	D	0.92146	0.7510	H	0.95224	3.64	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.93580	0.6912	10	0.72032	D	0.01	.	19.6745	0.95926	0.0:0.0:1.0:0.0	.	138	P52732	KIF11_HUMAN	H	138	ENSP00000260731:R138H	ENSP00000260731:R138H	R	+	2	0	KIF11	94358782	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.718000	0.84743	2.880000	0.98712	0.650000	0.86243	CGT		0.348	KIF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049401.1	NM_004523		26	37	0	0	0	1	0	26	37					A	94368802	G	A	94368802	3	1	435	1	0	0	0	0	1	0	0	0	8272	1145	40	1	431	1	KIF11	10	94368802	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	140104	94368802	41165945	4786	25711											
EXOC6	54536	broad.mit.edu	37	chr10	94679782	94679782	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgatttttcccctgtttatcGatgtttgcacatttattctg	6	21	6	8	1	1	1	0	1	1	0	3	2	2	1	2	0	1	3	2	0	2	8	rs563282365		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:94679782G>A	ENST00000260762.6	+	8	877	c.863G>A	c.(862-864)cGa>cAa	p.R288Q	EXOC6_ENST00000443748.2_Intron|EXOC6_ENST00000371547.4_Missense_Mutation_p.R304Q|EXOC6_ENST00000371552.4_Missense_Mutation_p.R283Q	NM_019053.4	NP_061926.3	Q8TAG9	EXOC6_HUMAN	exocyst complex component 6	288					cellular protein metabolic process (GO:0044267)|erythrocyte differentiation (GO:0030218)|membrane organization (GO:0061024)|protein transport (GO:0015031)|vesicle docking involved in exocytosis (GO:0006904)	exocyst (GO:0000145)|plasma membrane (GO:0005886)				cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	26		Colorectal(252;0.123)				CCTGTTTATCGATGTTTGCAC	0.264													G|||	1	0.000199681	0	0	5008	,	,		16832	0		0.001	False		,,,				2504	0					ENST00000371552.4																			0				cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	26						c.(847-849)cGa>cAa		exocyst complex component 6							135	122	127					10																	94679782		2201	4295	6496	SO:0001583	missense	54536				protein transport|vesicle docking involved in exocytosis	exocyst		g.chr10:94679782G>A	BC028395	CCDS7424.2, CCDS31247.1	10q23.33	2013-01-22	2006-11-07	2006-11-07	ENSG00000138190	ENSG00000138190			23196	protein-coding gene	gene with protein product		609672	"SEC15-like 1 (S. cerevisiae)"	SEC15L1		8889548	Standard	NM_001013848		Approved	SEC15L, FLJ1125, DKFZp761I2124, MGC33397, Sec15p, EXOC6A	uc001kig.3	Q8TAG9	OTTHUMG00000018767	ENST00000260762.6:c.863G>A	10.37:g.94679782G>A	ENSP00000260762:p.Arg288Gln					EXOC6_ENST00000260762.6_Missense_Mutation_p.R288Q|EXOC6_ENST00000371547.4_Missense_Mutation_p.R304Q|EXOC6_ENST00000443748.2_Intron	p.R283Q	NM_001013848.2	NP_001013870.1	Q8TAG9	EXOC6_HUMAN			8	877	+		Colorectal(252;0.123)	288					E9PHI3|Q5VXH8|Q9NZ24	Missense_Mutation	SNP	ENST00000260762.6	37	c.848G>A	CCDS7424.2	.	.	.	.	.	.	.	.	.	.	G	16.97	3.268657	0.59540	.	.	ENSG00000138190	ENST00000371547;ENST00000371552;ENST00000260762	T;T;T	0.33216	1.42;1.42;1.42	5.67	2.85	0.33270	.	0.048832	0.85682	N	0.000000	T	0.28797	0.0714	L	0.52823	1.66	0.80722	D	1	P;P;P;P	0.48911	0.873;0.917;0.665;0.665	B;B;B;B	0.41332	0.354;0.298;0.206;0.206	T	0.06338	-1.0832	10	0.72032	D	0.01	-0.7436	10.896	0.47023	0.2056:0.0:0.7944:0.0	.	304;280;288;283	F2Z2Q3;B4DEZ1;Q8TAG9;E9PHI3	.;.;EXOC6_HUMAN;.	Q	304;283;288	ENSP00000360602:R304Q;ENSP00000360607:R283Q;ENSP00000260762:R288Q	ENSP00000260762:R288Q	R	+	2	0	EXOC6	94669762	1.000000	0.71417	0.978000	0.43139	0.438000	0.31896	3.467000	0.53078	0.437000	0.26423	0.585000	0.79938	CGA		0.264	EXOC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049410.2	NM_019053		6	14	0	0	0	1	0	6	14					A	94679782	G	A	94679782	3	1	435	1	0	0	0	0	1	0	0	0	5308	1058	37	2	983	2	EXOC6	10	94679782	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	310980	94679782	40854965	4787	25712											
CYP26A1	1592	broad.mit.edu	37	chr10	94834933	94834933	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggcgcggaacctcattcacGcgcgcatcgagcagaacatt	11	6	11	13	6	2	1	2	0	0	1	3	3	2	2	1	2	3	2	1	2	2	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:94834933G>A	ENST00000224356.4	+	4	778	c.733G>A	c.(733-735)Gcg>Acg	p.A245T	CYP26A1_ENST00000394139.1_Missense_Mutation_p.A176T|CYP26A1_ENST00000371531.1_Missense_Mutation_p.A176T	NM_000783.3	NP_000774.2	O43174	CP26A_HUMAN	cytochrome P450, family 26, subfamily A, polypeptide 1	245					anterior/posterior pattern specification (GO:0009952)|cellular response to retinoic acid (GO:0071300)|central nervous system development (GO:0007417)|metabolic process (GO:0008152)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|neural crest cell development (GO:0014032)|retinoic acid catabolic process (GO:0034653)|retinoic acid receptor signaling pathway (GO:0048384)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxygen binding (GO:0019825)|retinoic acid 4-hydroxylase activity (GO:0008401)|retinoic acid binding (GO:0001972)			breast(1)|endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	16		Colorectal(252;0.122)			Acitretin(DB00459)|Ketoconazole(DB01026)|Vitamin A(DB00162)	CCTCATTCACGCGCGCATCGA	0.687																																						ENST00000371531.1																			0				breast(1)|endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	16						c.(526-528)Gcg>Acg		cytochrome P450, family 26, subfamily A, polypeptide 1							29	31	31					10																	94834933		2202	4297	6499	SO:0001583	missense	0				negative regulation of retinoic acid receptor signaling pathway|retinoic acid catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|oxygen binding|retinoic acid 4-hydroxylase activity|retinoic acid binding	g.chr10:94834933G>A	AF005418	CCDS7426.1, CCDS7427.1	10q23-q24	2003-10-06	2003-01-14		ENSG00000095596	ENSG00000095596		"Cytochrome P450s"	2603	protein-coding gene	gene with protein product		602239	"cytochrome P450, subfamily XXVIA, polypeptide 1"			9228017, 9521883	Standard	NM_000783		Approved	P450RAI, CP26, CYP26, P450RAI1	uc001kil.2	O43174	OTTHUMG00000018765	ENST00000224356.4:c.733G>A	10.37:g.94834933G>A	ENSP00000224356:p.Ala245Thr					CYP26A1_ENST00000224356.4_Missense_Mutation_p.A245T|CYP26A1_ENST00000394139.1_Missense_Mutation_p.A176T	p.A176T	NM_057157.2	NP_476498.1	O43174	CP26A_HUMAN			4	904	+		Colorectal(252;0.122)	245					B3KNI4|Q5VXH9|Q5VXI0	Missense_Mutation	SNP	ENST00000224356.4	37	c.526G>A	CCDS7426.1	.	.	.	.	.	.	.	.	.	.	G	12.52	1.962383	0.34659	.	.	ENSG00000095596	ENST00000371531;ENST00000224356;ENST00000394139	T;T;T	0.72835	-0.69;-0.69;-0.69	5.27	3.39	0.38822	.	0.297578	0.37437	N	0.002087	T	0.54029	0.1833	L	0.33189	0.99	0.50171	D	0.999852	B;B	0.31680	0.231;0.335	B;B	0.26416	0.064;0.069	T	0.47497	-0.9113	10	0.31617	T	0.26	-17.5497	8.848	0.35181	0.0751:0.0:0.7773:0.1476	.	176;245	B3KNI4;O43174	.;CP26A_HUMAN	T	176;245;176	ENSP00000360586:A176T;ENSP00000224356:A245T;ENSP00000377695:A176T	ENSP00000224356:A245T	A	+	1	0	CYP26A1	94824923	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	2.590000	0.46154	0.775000	0.33450	-0.254000	0.11334	GCG		0.687	CYP26A1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049408.3			17	12	0	0	0	1	0	17	12					A	94834933	G	A	94834933	3	1	435	1	0	0	0	0	1	0	0	0	4155	1087	38	1	747	1	CYP26A1	10	94834933	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	155151	94834933	40699814	4788	25713											
MYOF	26509	broad.mit.edu	37	chr10	95103666	95103666	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcgataacgatgtcccggcAtggtggggcagacagaaggg	10	7	16	8	3	0	2	0	0	0	2	2	4	1	2	1	5	1	2	1	5	2	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:95103666A>G	ENST00000359263.4	-	38	4272	c.4273T>C	c.(4273-4275)Tgc>Cgc	p.C1425R	MYOF_ENST00000371502.4_Missense_Mutation_p.C1425R|MYOF_ENST00000371501.4_Missense_Mutation_p.C1425R|MYOF_ENST00000358334.5_Missense_Mutation_p.C1412R	NM_013451.3	NP_038479.1	Q9NZM1	MYOF_HUMAN	myoferlin	1425					blood circulation (GO:0008015)|cellular response to heat (GO:0034605)|muscle contraction (GO:0006936)|plasma membrane repair (GO:0001778)|regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030947)	caveola (GO:0005901)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)	phospholipid binding (GO:0005543)			NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						ATGTCCCGGCATGGTGGGGCA	0.423																																						ENST00000371501.4																			0				NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						c.(4273-4275)Tgc>Cgc		myoferlin							115	113	114					10																	95103666		1938	4128	6066	SO:0001583	missense	26509				blood circulation|muscle contraction|plasma membrane repair	caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane	phospholipid binding|protein binding	g.chr10:95103666A>G	AB033033	CCDS41550.1, CCDS41551.1	10q24	2014-06-27	2008-11-26	2008-11-26	ENSG00000138119	ENSG00000138119			3656	protein-coding gene	gene with protein product	"fer-1-like family member 3"	604603	"fer-1 (C.elegans)-like 3 (myoferlin)", "fer-1-like 3, myoferlin (C. elegans)"	FER1L3		10607832, 10995573, 17702744	Standard	NM_013451		Approved	KIAA1207	uc001kin.3	Q9NZM1	OTTHUMG00000018772	ENST00000359263.4:c.4273T>C	10.37:g.95103666A>G	ENSP00000352208:p.Cys1425Arg					MYOF_ENST00000358334.5_Missense_Mutation_p.C1412R|MYOF_ENST00000359263.4_Missense_Mutation_p.C1425R|MYOF_ENST00000371502.4_Missense_Mutation_p.C1425R	p.C1425R			Q9NZM1	MYOF_HUMAN			38	4395	-			1425					B3KQN5|Q5VWW2|Q5VWW3|Q5VWW4|Q5VWW5|Q7Z642|Q8IWH0|Q9HBU3|Q9NZM0|Q9ULL3|Q9Y4U4	Missense_Mutation	SNP	ENST00000359263.4	37	c.4273T>C	CCDS41551.1	.	.	.	.	.	.	.	.	.	.	A	5.212	0.224577	0.09916	.	.	ENSG00000138119	ENST00000358334;ENST00000359263;ENST00000371501;ENST00000371502	D;D;D;D	0.82255	-1.58;-1.58;-1.59;-1.56	5.86	-4.87	0.03123	.	1.452040	0.03537	N	0.223326	T	0.50752	0.1634	N	0.00841	-1.15	0.27269	N	0.958421	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.46789	-0.9166	10	0.22706	T	0.39	-0.8988	2.4218	0.04450	0.1826:0.1349:0.4178:0.2648	.	1412;1425	Q9NZM1-6;Q9NZM1	.;MYOF_HUMAN	R	1412;1425;1425;1425	ENSP00000351094:C1412R;ENSP00000352208:C1425R;ENSP00000360556:C1425R;ENSP00000360557:C1425R	ENSP00000351094:C1412R	C	-	1	0	MYOF	95093656	0.416000	0.25424	0.804000	0.32291	0.719000	0.41307	0.512000	0.22755	-0.361000	0.08125	-0.256000	0.11100	TGC		0.423	MYOF-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000049423.2	NM_013451		23	25	0	0	0	1	0	23	25					G	95103666	A	G	95103666	3	3	435	1	0	0	0	0	1	0	0	0	10089	217	8	4	1980	4	MYOF	10	95103666	Missense_Mutation	SNP	A	TCGA-XK-AAIW-01A-11D-A41K-08	268733	95103666	40431081	4789	25714											
MYOF	26509	broad.mit.edu	37	chr10	95132766	95132766	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggagtacaagacctgatgtGcgggaattcgtgcataggcc	10	9	14	8	2	0	2	0	1	0	1	1	4	0	4	2	3	3	2	2	3	4	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:95132766G>A	ENST00000359263.4	-	24	2377	c.2378C>T	c.(2377-2379)gCa>gTa	p.A793V	MYOF_ENST00000371502.4_Missense_Mutation_p.A793V|MYOF_ENST00000371501.4_Missense_Mutation_p.A793V|MYOF_ENST00000358334.5_Missense_Mutation_p.A780V	NM_013451.3	NP_038479.1	Q9NZM1	MYOF_HUMAN	myoferlin	793					blood circulation (GO:0008015)|cellular response to heat (GO:0034605)|muscle contraction (GO:0006936)|plasma membrane repair (GO:0001778)|regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030947)	caveola (GO:0005901)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)	phospholipid binding (GO:0005543)			NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						GACCTGATGTGCGGGAATTCG	0.483																																						ENST00000371501.4																			0				NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						c.(2377-2379)gCa>gTa		myoferlin							211	208	209					10																	95132766		2013	4183	6196	SO:0001583	missense	26509				blood circulation|muscle contraction|plasma membrane repair	caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane	phospholipid binding|protein binding	g.chr10:95132766G>A	AB033033	CCDS41550.1, CCDS41551.1	10q24	2014-06-27	2008-11-26	2008-11-26	ENSG00000138119	ENSG00000138119			3656	protein-coding gene	gene with protein product	"fer-1-like family member 3"	604603	"fer-1 (C.elegans)-like 3 (myoferlin)", "fer-1-like 3, myoferlin (C. elegans)"	FER1L3		10607832, 10995573, 17702744	Standard	NM_013451		Approved	KIAA1207	uc001kin.3	Q9NZM1	OTTHUMG00000018772	ENST00000359263.4:c.2378C>T	10.37:g.95132766G>A	ENSP00000352208:p.Ala793Val					MYOF_ENST00000358334.5_Missense_Mutation_p.A780V|MYOF_ENST00000359263.4_Missense_Mutation_p.A793V|MYOF_ENST00000371502.4_Missense_Mutation_p.A793V	p.A793V			Q9NZM1	MYOF_HUMAN			24	2500	-			793					B3KQN5|Q5VWW2|Q5VWW3|Q5VWW4|Q5VWW5|Q7Z642|Q8IWH0|Q9HBU3|Q9NZM0|Q9ULL3|Q9Y4U4	Missense_Mutation	SNP	ENST00000359263.4	37	c.2378C>T	CCDS41551.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.962671	0.74016	.	.	ENSG00000138119	ENST00000358334;ENST00000359263;ENST00000371501;ENST00000371502	T;T;T;T	0.74002	-0.8;-0.8;-0.8;-0.8	5.65	5.65	0.86999	Ferlin B-domain (1);	0.000000	0.85682	D	0.000000	D	0.86543	0.5958	M	0.75150	2.29	0.80722	D	1	D;D	0.89917	0.981;1.0	D;D	0.97110	0.919;1.0	D	0.84836	0.0805	10	0.44086	T	0.13	-20.6316	19.9142	0.97043	0.0:0.0:1.0:0.0	.	780;793	Q9NZM1-6;Q9NZM1	.;MYOF_HUMAN	V	780;793;793;793	ENSP00000351094:A780V;ENSP00000352208:A793V;ENSP00000360556:A793V;ENSP00000360557:A793V	ENSP00000351094:A780V	A	-	2	0	MYOF	95122756	1.000000	0.71417	0.574000	0.28523	0.115000	0.19883	7.803000	0.85983	2.941000	0.99782	0.655000	0.94253	GCA		0.483	MYOF-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000049423.2	NM_013451		40	52	0	0	0	1	0	40	52					A	95132766	G	A	95132766	3	1	435	1	0	0	0	0	1	0	0	0	10089	1319	46	3	3931	3	MYOF	10	95132766	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	29100	95132766	40401981	4790	25715											
TMEM20	159371	broad.mit.edu	37	chr10	95660860	95660860	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agtgccgtatttgctgcatcGactctagttatcctaagaaa	11	13	8	9	2	1	1	0	0	1	1	3	2	2	1	2	0	3	4	2	0	5	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:95660860G>A	ENST00000427197.1	+	3	772	c.711G>A	c.(709-711)tcG>tcA	p.S237S	SLC35G1_ENST00000371408.3_Silent_p.S236S	NM_001134658.1|NM_153226.2	NP_001128130.1|NP_694958.1	Q2M3R5	S35G1_HUMAN	solute carrier family 35, member G1	237	EamA 2.				calcium ion export from cell (GO:1990034)|cytosolic calcium ion homeostasis (GO:0051480)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)											TTGCTGCATCGACTCTAGTTA	0.428																																						ENST00000371408.3																			0											c.(706-708)tcG>tcA		solute carrier family 35, member G1							125	117	120					10																	95660860		2203	4300	6503	SO:0001819	synonymous_variant	159371					integral to membrane		g.chr10:95660860G>A	AK091309	CCDS7432.1, CCDS44459.1	10q23.33	2013-05-22	2011-08-03	2011-08-03	ENSG00000176273	ENSG00000176273		"Solute carriers"	26607	protein-coding gene	gene with protein product			"transmembrane protein 20"	TMEM20		21569384	Standard	NM_153226		Approved	FLJ33990, C10orf60	uc001kjg.2	Q2M3R5	OTTHUMG00000018779	ENST00000427197.1:c.711G>A	10.37:g.95660860G>A						SLC35G1_ENST00000427197.1_Silent_p.S237S	p.S236S			Q2M3R5	TMM20_HUMAN			3	769	+			237			DUF6 2.		Q86YG5|Q8NBA5	Silent	SNP	ENST00000427197.1	37	c.708G>A	CCDS44459.1																																																																																				0.428	SLC35G1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_153226		36	44	0	0	0	1	0	36	44					A	95660860	G	A	95660860	2	1	435	1	0	0	0	0	0	0	0	1	16119	1045	37	2		2	TMEM20	10	95660860	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	528094	95660860	39873887	4791	25716											
PLCE1	51196	broad.mit.edu	37	chr10	96058386	96058386	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	aaccccctcatgttctggctCcatgggatacagcttgtggc	7	11	10	13	0	2	0	1	0	1	0	3	1	3	1	3	3	3	3	3	3	2	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:96058386C>T	ENST00000371380.3	+	23	5653	c.5418C>T	c.(5416-5418)ctC>ctT	p.L1806L	PLCE1_ENST00000371385.3_Silent_p.L1498L|PLCE1_ENST00000260766.3_Silent_p.L1806L|PLCE1_ENST00000371375.1_Silent_p.L1498L			Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1	1806	PI-PLC Y-box. {ECO:0000255|PROSITE- ProRule:PRU00271}.				activation of MAPK activity (GO:0000187)|calcium-mediated signaling (GO:0019722)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|diacylglycerol biosynthetic process (GO:0006651)|epidermal growth factor receptor signaling pathway (GO:0007173)|glomerulus development (GO:0032835)|heart development (GO:0007507)|inositol phosphate metabolic process (GO:0043647)|inositol phosphate-mediated signaling (GO:0048016)|lipid catabolic process (GO:0016042)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|phospholipid metabolic process (GO:0006644)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of GTPase activity (GO:0043547)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|Ras protein signal transduction (GO:0007265)|regulation of cell growth (GO:0001558)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of protein kinase activity (GO:0045859)|regulation of Ras protein signal transduction (GO:0046578)|regulation of smooth muscle contraction (GO:0006940)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|enzyme binding (GO:0019899)|guanyl-nucleotide exchange factor activity (GO:0005085)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|Ras GTPase binding (GO:0017016)|receptor signaling protein activity (GO:0005057)			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				TGTTCTGGCTCCATGGGATAC	0.537																																						ENST00000260766.3																			0				liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8						c.(5416-5418)ctC>ctT		phospholipase C, epsilon 1							127	125	126					10																	96058386		2046	4204	6250	SO:0001819	synonymous_variant	51196				activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction	cytosol|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity	g.chr10:96058386C>T		CCDS41552.1, CCDS53555.1	10q23	2010-02-22			ENSG00000138193	ENSG00000138193	3.1.4.11		17175	protein-coding gene	gene with protein product	"nephrosis type 3"	608414				11022047, 11022048	Standard	NM_016341		Approved	KIAA1516, PLCE, NPHS3	uc001kjk.3	Q9P212	OTTHUMG00000018789	ENST00000371380.3:c.5418C>T	10.37:g.96058386C>T						PLCE1_ENST00000371375.1_Silent_p.L1498L|PLCE1_ENST00000371385.3_Silent_p.L1498L|PLCE1_ENST00000371380.2_Silent_p.L1806L	p.L1806L	NM_016341.3	NP_057425.3	Q9P212	PLCE1_HUMAN			24	6052	+		Colorectal(252;0.0458)	1806			PI-PLC Y-box.		A6NGW0|A6NLA1|A7MBN7|A8K1D7|B9EIJ6|Q1X6H8|Q5VWL4|Q5VWL5|Q9H9X8|Q9HBX6|Q9HC53|Q9UHV3	Silent	SNP	ENST00000371380.3	37	c.5418C>T	CCDS41552.1																																																																																				0.537	PLCE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049469.3	NM_016341		32	37	0	0	0	1	0	32	37					T	96058386	C	T	96058386	2	4	435	1	0	0	0	0	0	0	0	1	12034	842	30	3		3	PLCE1	10	96058386	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	397526	96058386	39476361	4792	25717											
TBC1D12	23232	broad.mit.edu	37	chr10	96162451	96162451	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cctgcgccggaccccgtgggCcaggacaggaaggtaatccg	8	4	15	14	4	0	0	0	0	0	0	1	3	1	3	6	5	1	1	6	5	2	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:96162451C>T	ENST00000225235.4	+	1	191	c.81C>T	c.(79-81)ggC>ggT	p.G27G		NM_015188.1	NP_056003.1	O60347	TBC12_HUMAN	TBC1 domain family, member 12	27							Rab GTPase activator activity (GO:0005097)			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(2)	20		Colorectal(252;0.0429)				ACCCCGTGGGCCAGGACAGGA	0.721																																						ENST00000225235.4																			0				breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(2)	20						c.(79-81)ggC>ggT		TBC1 domain family, member 12							7	9	8					10																	96162451		1851	4000	5851	SO:0001819	synonymous_variant	23232					intracellular	Rab GTPase activator activity	g.chr10:96162451C>T	AB011180	CCDS41553.1	10q23.33	2013-09-20			ENSG00000108239	ENSG00000108239			29082	protein-coding gene	gene with protein product						9628581	Standard	NM_015188		Approved	KIAA0608	uc001kjr.2	O60347	OTTHUMG00000018794	ENST00000225235.4:c.81C>T	10.37:g.96162451C>T							p.G27G	NM_015188.1	NP_056003.1	O60347	TBC12_HUMAN			1	191	+		Colorectal(252;0.0429)	27					Q5VYA6|Q8WX26|Q8WX59|Q9UG83	Silent	SNP	ENST00000225235.4	37	c.81C>T	CCDS41553.1																																																																																				0.721	TBC1D12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049482.2			11	6	0	0	0	1	0	11	6					T	96162451	C	T	96162451	2	4	435	1	0	0	0	0	0	0	0	1	15598	726	26	3		3	TBC1D12	10	96162451	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	104065	96162451	39372296	4793	25718											
CYP2C19	1557	broad.mit.edu	37	chr10	96612526	96612526	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggagagggcctggcccgcaTggagctgtttttattcctga	6	11	15	9	1	0	2	0	1	0	1	1	4	1	3	3	4	1	3	3	4	1	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:96612526T>A	ENST00000371321.3	+	9	1410	c.1328T>A	c.(1327-1329)aTg>aAg	p.M443K	CYP2C19_ENST00000464755.1_3'UTR	NM_000769.1	NP_000760	P33261	CP2CJ_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 19	443					arachidonic acid metabolic process (GO:0019369)|drug metabolic process (GO:0017144)|epoxygenase P450 pathway (GO:0019373)|exogenous drug catabolic process (GO:0042738)|heterocycle metabolic process (GO:0046483)|monoterpenoid metabolic process (GO:0016098)|omega-hydroxylase P450 pathway (GO:0097267)|oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)	(R)-limonene 6-monooxygenase activity (GO:0052741)|(S)-limonene 6-monooxygenase activity (GO:0018675)|(S)-limonene 7-monooxygenase activity (GO:0018676)|enzyme binding (GO:0019899)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity (GO:0016491)|oxygen binding (GO:0019825)|steroid hydroxylase activity (GO:0008395)			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	43		Colorectal(252;0.09)		all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838)	Acenocoumarol(DB01418)|Acetylsalicylic acid(DB00945)|Adinazolam(DB00546)|Almotriptan(DB00918)|Aminoglutethimide(DB00357)|Aminophenazone(DB01424)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Amprenavir(DB00701)|Antipyrine(DB01435)|Apixaban(DB06605)|Aprepitant(DB00673)|Arformoterol(DB01274)|Artemether(DB06697)|Atomoxetine(DB00289)|Atorvastatin(DB01076)|Axitinib(DB06626)|Azelastine(DB00972)|Benzatropine(DB00245)|Bicalutamide(DB01128)|Bifonazole(DB04794)|Bortezomib(DB00188)|Bromazepam(DB01558)|Brompheniramine(DB00835)|Bupivacaine(DB00297)|Buprenorphine(DB00921)|Carbamazepine(DB00564)|Carbinoxamine(DB00748)|Carisoprodol(DB00395)|Chloramphenicol(DB00446)|Chlorpropamide(DB00672)|Cholecalciferol(DB00169)|Cilostazol(DB01166)|Cimetidine(DB00501)|Cisapride(DB00604)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clevidipine(DB04920)|Clobazam(DB00349)|Clomipramine(DB01242)|Clopidogrel(DB00758)|Clotiazepam(DB01559)|Clotrimazole(DB00257)|Clozapine(DB00363)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dapsone(DB00250)|Delavirdine(DB00705)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexamethasone(DB01234)|Dexfenfluramine(DB01191)|Dextromethorphan(DB00514)|Diazepam(DB00829)|Diclofenac(DB00586)|Diltiazem(DB00343)|Dimethyl sulfoxide(DB01093)|Diphenhydramine(DB01075)|Dopamine(DB00988)|Doxazosin(DB00590)|Doxepin(DB01142)|Dronabinol(DB00470)|Efavirenz(DB00625)|Eletriptan(DB00216)|Enfuvirtide(DB00109)|Enzalutamide(DB08899)|Escitalopram(DB01175)|Esomeprazole(DB00736)|Estradiol(DB00783)|Ethanol(DB00898)|Ethotoin(DB00754)|Etoricoxib(DB01628)|Etravirine(DB06414)|Famotidine(DB00927)|Felbamate(DB00949)|Fluconazole(DB00196)|Flunitrazepam(DB01544)|Fluoxetine(DB00472)|Flutamide(DB00499)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Gefitinib(DB00317)|Gemfibrozil(DB01241)|Gliclazide(DB01120)|Glucosamine(DB01296)|Glyburide(DB01016)|Guanfacine(DB01018)|Haloperidol(DB00502)|Hexobarbital(DB01355)|Ibuprofen(DB01050)|Ifosfamide(DB01181)|Imatinib(DB00619)|Imipramine(DB00458)|Indinavir(DB00224)|Indomethacin(DB00328)|Isoniazid(DB00951)|Ketobemidone(DB06738)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Levomilnacipran(DB08918)|Lopinavir(DB01601)|Loratadine(DB00455)|Lorcaserin(DB04871)|Losartan(DB00678)|Lovastatin(DB00227)|LULICONAZOLE(DB08933)|Lumiracoxib(DB01283)|MACITENTAN(DB08932)|Melatonin(DB01065)|Memantine(DB01043)|Meprobamate(DB00371)|Methadone(DB00333)|Methazolamide(DB00703)|Methimazole(DB00763)|Methsuximide(DB05246)|Methylphenobarbital(DB00849)|Metoprolol(DB00264)|Miconazole(DB01110)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nicotine(DB00184)|Nilutamide(DB00665)|Nilvadipine(DB06712)|Norethindrone(DB00717)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Omeprazole(DB00338)|Ospemifene(DB04938)|Oxcarbazepine(DB00776)|Oxiconazole(DB00239)|Pantoprazole(DB00213)|Pegvisomant(DB00082)|Pentamidine(DB00738)|Pentobarbital(DB00312)|Perphenazine(DB00850)|Pethidine(DB00454)|Phenelzine(DB00780)|Phenobarbital(DB01174)|Phensuximide(DB00832)|Phenytoin(DB00252)|Pimozide(DB01100)|Pioglitazone(DB01132)|Pipotiazine(DB01621)|Podofilox(DB01179)|Prasugrel(DB06209)|Praziquantel(DB01058)|Prednisone(DB00635)|Primidone(DB00794)|Probenecid(DB01032)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Propofol(DB00818)|Propranolol(DB00571)|Quazepam(DB01589)|Quetiapine(DB01224)|Quinine(DB00468)|Rabeprazole(DB01129)|Ramelteon(DB00980)|Ranitidine(DB00863)|Regorafenib(DB08896)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Selegiline(DB01037)|Sertraline(DB01104)|Sildenafil(DB00203)|Simvastatin(DB00641)|Sitaxentan(DB06268)|Sorafenib(DB00398)|Sulfanilamide(DB00259)|Tamoxifen(DB00675)|Tapentadol(DB06204)|Telmisartan(DB00966)|Temazepam(DB00231)|Teniposide(DB00444)|Terbinafine(DB00857)|Testosterone(DB00624)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Timolol(DB00373)|Tioconazole(DB01007)|Tipranavir(DB00932)|Tofacitinib(DB08895)|Tolbutamide(DB01124)|Tolterodine(DB01036)|Topiramate(DB00273)|Torasemide(DB00214)|Trabectedin(DB05109)|Tranylcypromine(DB00752)|Trimethadione(DB00347)|Trimipramine(DB00726)|Troleandomycin(DB01361)|Valproic Acid(DB00313)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vismodegib(DB08828)|Voriconazole(DB00582)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zidovudine(DB00495)|Zolpidem(DB00425)|Zonisamide(DB00909)	CTGGCCCGCATGGAGCTGTTT	0.428																																						ENST00000371321.3																			0				central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	43						c.(1327-1329)aTg>aAg		cytochrome P450, family 2, subfamily C, polypeptide 19	Adinazolam(DB00546)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Arformoterol(DB01274)|Bortezomib(DB00188)|Carisoprodol(DB00395)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Desipramine(DB01151)|Desloratadine(DB00967)|Diclofenac(DB00586)|Diltiazem(DB00343)|Efavirenz(DB00625)|Esomeprazole(DB00736)|Famotidine(DB00927)|Felbamate(DB00949)|Finasteride(DB01216)|Flunitrazepam(DB01544)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Guanfacine(DB01018)|Imipramine(DB00458)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Loratadine(DB00455)|Melatonin(DB01065)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nilutamide(DB00665)|Norgestrel(DB00506)|Omeprazole(DB00338)|Oxcarbazepine(DB00776)|Pantoprazole(DB00213)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Quinidine(DB00908)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Temazepam(DB00231)|Teniposide(DB00444)|Terfenadine(DB00342)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tolbutamide(DB01124)|Topiramate(DB00273)|Tranylcypromine(DB00752)|Troglitazone(DB00197)|Troleandomycin(DB01361)|Voriconazole(DB00582)						139	131	134					10																	96612526		2203	4300	6503	SO:0001583	missense	1557				exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding|steroid hydroxylase activity	g.chr10:96612526T>A	M61854	CCDS7436.1	10q24	2007-12-14	2003-01-14		ENSG00000165841	ENSG00000165841		"Cytochrome P450s"	2621	protein-coding gene	gene with protein product		124020	"cytochrome P450, subfamily IIC (mephenytoin 4-hydroxylase), polypeptide 19"	CYP2C		2009263, 8530044	Standard	NM_000769		Approved	P450IIC19, CPCJ	uc010qnz.2	P33261	OTTHUMG00000018799	ENST00000371321.3:c.1328T>A	10.37:g.96612526T>A	ENSP00000360372:p.Met443Lys					CYP2C19_ENST00000464755.1_3'UTR	p.M443K	NM_000769.1	NP_000760.1	P33261	CP2CJ_HUMAN		all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838)	9	1410	+		Colorectal(252;0.09)	443					P33259|Q8WZB1|Q8WZB2|Q9UCD4	Missense_Mutation	SNP	ENST00000371321.3	37	c.1328T>A	CCDS7436.1	.	.	.	.	.	.	.	.	.	.	T	17.19	3.327327	0.60743	.	.	ENSG00000165841	ENST00000371321	T	0.71698	-0.59	3.2	0.582	0.17412	.	0.000000	0.85682	U	0.000000	T	0.80824	0.4697	M	0.86097	2.795	0.34420	D	0.697324	D	0.71674	0.998	D	0.71656	0.974	T	0.81988	-0.0680	10	0.87932	D	0	.	6.1013	0.20049	0.0:0.2525:0.0:0.7475	.	443	P33261	CP2CJ_HUMAN	K	443	ENSP00000360372:M443K	ENSP00000360372:M443K	M	+	2	0	CYP2C19	96602516	1.000000	0.71417	0.998000	0.56505	0.922000	0.55478	4.133000	0.57983	0.210000	0.20664	0.491000	0.48974	ATG		0.428	CYP2C19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049490.1	NM_000769		38	70	0	0	0	1	0	38	70					A	96612526	T	A	96612526	3	1	435	1	0	0	0	0	1	0	0	0	4166	1464	51	5	1362	5	CYP2C19	10	96612526	Missense_Mutation	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	450075	96612526	38922221	4794	25719											
CYP2C9	1559	broad.mit.edu	37	chr10	96701627	96701627	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tttcctagctctcaaaggtcTatggccctgtgttcactctg	6	15	8	12	0	4	0	2	0	3	0	6	0	5	0	2	2	1	2	2	2	3	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:96701627T>C	ENST00000260682.6	+	2	193	c.181T>C	c.(181-183)Tat>Cat	p.Y61H	CYP2C9_ENST00000461906.1_3'UTR	NM_000771.3	NP_000762.2	P11712	CP2C9_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 9	61					arachidonic acid metabolic process (GO:0019369)|cellular amide metabolic process (GO:0043603)|drug catabolic process (GO:0042737)|drug metabolic process (GO:0017144)|epoxygenase P450 pathway (GO:0019373)|exogenous drug catabolic process (GO:0042738)|monocarboxylic acid metabolic process (GO:0032787)|monoterpenoid metabolic process (GO:0016098)|omega-hydroxylase P450 pathway (GO:0097267)|oxidation-reduction process (GO:0055114)|oxidative demethylation (GO:0070989)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|urea metabolic process (GO:0019627)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)	(R)-limonene 6-monooxygenase activity (GO:0052741)|(S)-limonene 6-monooxygenase activity (GO:0018675)|(S)-limonene 7-monooxygenase activity (GO:0018676)|caffeine oxidase activity (GO:0034875)|drug binding (GO:0008144)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity (GO:0016491)|steroid hydroxylase activity (GO:0008395)			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	34		Colorectal(252;0.0902)		all cancers(201;6.93e-05)	Acenocoumarol(DB01418)|Acetaminophen(DB00316)|Acetylsalicylic acid(DB00945)|Agomelatine(DB06594)|Alosetron(DB00969)|Alprazolam(DB00404)|Aminophenazone(DB01424)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amodiaquine(DB00613)|Amprenavir(DB00701)|Anastrozole(DB01217)|Antipyrine(DB01435)|Apixaban(DB06605)|Aprepitant(DB00673)|Arformoterol(DB01274)|Artemether(DB06697)|Atazanavir(DB01072)|Atorvastatin(DB01076)|Atovaquone(DB01117)|Azelastine(DB00972)|Bexarotene(DB00307)|Bicalutamide(DB01128)|Bortezomib(DB00188)|Bosentan(DB00559)|Brompheniramine(DB00835)|Buprenorphine(DB00921)|Bupropion(DB01156)|Cabozantinib(DB08875)|Caffeine(DB00201)|Candesartan(DB00796)|Capecitabine(DB01101)|Carbamazepine(DB00564)|Carbinoxamine(DB00748)|Carvedilol(DB01136)|Celecoxib(DB00482)|Chloramphenicol(DB00446)|Chlorpropamide(DB00672)|Cholecalciferol(DB00169)|Cimetidine(DB00501)|Cinnarizine(DB00568)|Cisapride(DB00604)|Cisplatin(DB00515)|Clevidipine(DB04920)|Clopidogrel(DB00758)|Clotrimazole(DB00257)|Clozapine(DB00363)|Cocaine(DB00907)|Colchicine(DB01394)|Cyclizine(DB01176)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dapagliflozin(DB06292)|Dapsone(DB00250)|Delavirdine(DB00705)|Desloratadine(DB00967)|Dexamethasone(DB01234)|Dexfenfluramine(DB01191)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Diazepam(DB00829)|Diclofenac(DB00586)|Diclofenamide(DB01144)|Dicoumarol(DB00266)|Diethylstilbestrol(DB00255)|Diltiazem(DB00343)|Diphenhydramine(DB01075)|Disulfiram(DB00822)|Dolasetron(DB00757)|Donepezil(DB00843)|Dopamine(DB00988)|Dorzolamide(DB00869)|Doxepin(DB01142)|Dronabinol(DB00470)|Efavirenz(DB00625)|Eletriptan(DB00216)|Enzalutamide(DB08899)|Epinephrine(DB00668)|Epoprostenol(DB01240)|Eprosartan(DB00876)|Estradiol(DB00783)|Estrone(DB00655)|Estropipate(DB04574)|Eszopiclone(DB00402)|Ethanol(DB00898)|Etodolac(DB00749)|Etoricoxib(DB01628)|Etravirine(DB06414)|Felodipine(DB01023)|Fenofibrate(DB01039)|Flecainide(DB01195)|Fluconazole(DB00196)|Flunarizine(DB04841)|Flunitrazepam(DB01544)|Fluorouracil(DB00544)|Fluoxetine(DB00472)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Gefitinib(DB00317)|Gemfibrozil(DB01241)|Ginkgo biloba(DB01381)|Gliclazide(DB01120)|Glimepiride(DB00222)|Glipizide(DB01067)|Glyburide(DB01016)|Guanfacine(DB01018)|Haloperidol(DB00502)|Halothane(DB01159)|Hexobarbital(DB01355)|Histamine Phosphate(DB00667)|Human Serum Albumin(DB00062)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Idarubicin(DB01177)|Ifosfamide(DB01181)|Imatinib(DB00619)|Indinavir(DB00224)|Indomethacin(DB00328)|Irbesartan(DB01029)|Isoniazid(DB00951)|Ketamine(DB01221)|Ketobemidone(DB06738)|Ketoconazole(DB01026)|Ketoprofen(DB01009)|Lansoprazole(DB00448)|Leflunomide(DB01097)|Lidocaine(DB00281)|Lopinavir(DB01601)|Loratadine(DB00455)|Lornoxicam(DB06725)|Losartan(DB00678)|Lovastatin(DB00227)|Lumiracoxib(DB01283)|Medroxyprogesterone Acetate(DB00603)|Mefenamic acid(DB00784)|Melatonin(DB01065)|Meloxicam(DB00814)|Mestranol(DB01357)|Methadone(DB00333)|Methazolamide(DB00703)|Methimazole(DB00763)|Methoxyflurane(DB01028)|Metronidazole(DB00916)|Miconazole(DB01110)|Mirtazapine(DB00370)|Moclobemide(DB01171)|Modafinil(DB00745)|Montelukast(DB00471)|Naproxen(DB00788)|Nateglinide(DB00731)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicardipine(DB00622)|Niclosamide(DB06803)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nilutamide(DB00665)|Nilvadipine(DB06712)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Omeprazole(DB00338)|Ondansetron(DB00904)|Ospemifene(DB04938)|Oxaprozin(DB00991)|Paclitaxel(DB01229)|Pantoprazole(DB00213)|Paramethadione(DB00617)|Paroxetine(DB00715)|Perphenazine(DB00850)|Phenobarbital(DB01174)|Phenprocoumon(DB00946)|Phentermine(DB00191)|Phenylbutazone(DB00812)|Phenytoin(DB00252)|Pioglitazone(DB01132)|Piroxicam(DB00554)|Pitavastatin(DB08860)|Pranlukast(DB01411)|Prasugrel(DB06209)|Pravastatin(DB00175)|Primidone(DB00794)|Probenecid(DB01032)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Promethazine(DB01069)|Propafenone(DB01182)|Propofol(DB00818)|Pyrimethamine(DB00205)|Quazepam(DB01589)|Quinidine(DB00908)|Quinine(DB00468)|Rabeprazole(DB01129)|Regorafenib(DB08896)|Rifampicin(DB01045)|Rifapentine(DB01201)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Rosuvastatin(DB01098)|Salicylic acid(DB00936)|Saquinavir(DB01232)|Secobarbital(DB00418)|Selegiline(DB01037)|Sertraline(DB01104)|Sildenafil(DB00203)|Simvastatin(DB00641)|Sitaxentan(DB06268)|Sorafenib(DB00398)|Sulfadiazine(DB00359)|Sulfadimethoxine(DB06150)|Sulfamethizole(DB00576)|Sulfamethoxazole(DB01015)|Sulfamoxole(DB08798)|Sulfanilamide(DB00259)|Sulfaphenazole(DB06729)|Sulfapyridine(DB00891)|Sulfinpyrazone(DB01138)|Sulfisoxazole(DB00263)|Suprofen(DB00870)|Tamoxifen(DB00675)|Tapentadol(DB06204)|Temazepam(DB00231)|Teniposide(DB00444)|Tenoxicam(DB00469)|Terbinafine(DB00857)|Testosterone(DB00624)|Thalidomide(DB01041)|Theophylline(DB00277)|Thiamylal(DB01154)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tioconazole(DB01007)|Tolbutamide(DB01124)|Tolcapone(DB00323)|Tolterodine(DB01036)|Torasemide(DB00214)|Trabectedin(DB05109)|Tranylcypromine(DB00752)|Treprostinil(DB00374)|Tretinoin(DB00755)|Triazolam(DB00897)|Trimethadione(DB00347)|Trimethoprim(DB00440)|Trimipramine(DB00726)|Troleandomycin(DB01361)|Valproic Acid(DB00313)|Valsartan(DB00177)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vismodegib(DB08828)|Voriconazole(DB00582)|Warfarin(DB00682)|Ximelagatran(DB04898)|Zafirlukast(DB00549)|Zalcitabine(DB00943)|Zidovudine(DB00495)|Zileuton(DB00744)|Zolpidem(DB00425)|Zopiclone(DB01198)	CTCAAAGGTCTATGGCCCTGT	0.413																																					Ovarian(54;1266 1406 16072 35076)	ENST00000260682.6																			0				breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						c.(181-183)Tat>Cat		cytochrome P450, family 2, subfamily C, polypeptide 9	Acenocoumarol(DB01418)|Alosetron(DB00969)|Amiodarone(DB01118)|Antihemophilic Factor(DB00025)|Aprepitant(DB00673)|Bosentan(DB00559)|Carprofen(DB00821)|Carvedilol(DB01136)|Celecoxib(DB00482)|Clomipramine(DB01242)|Dapsone(DB00250)|Delavirdine(DB00705)|Desloratadine(DB00967)|Desogestrel(DB00304)|Diclofenac(DB00586)|Esomeprazole(DB00736)|Etodolac(DB00749)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Gemfibrozil(DB01241)|Ginkgo biloba(DB01381)|Glibenclamide(DB01016)|Glimepiride(DB00222)|Glipizide(DB01067)|Guanfacine(DB01018)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Imipramine(DB00458)|Irbesartan(DB01029)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Losartan(DB00678)|Lumiracoxib(DB01283)|Marinol(DB00470)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mephenytoin(DB00532)|Metronidazole(DB00916)|Miconazole(DB01110)|Midazolam(DB00683)|Montelukast(DB00471)|Nateglinide(DB00731)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Oxymorphone(DB01192)|Pantoprazole(DB00213)|Paramethadione(DB00617)|Phenprocoumon(DB00946)|Phenytoin(DB00252)|Pravastatin(DB00175)|Quinidine(DB00908)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Sertraline(DB01104)|Sildenafil(DB00203)|Sulfamethoxazole(DB01015)|Suprofen(DB00870)|Tamoxifen(DB00675)|Tenoxicam(DB00469)|Terfenadine(DB00342)|Tolbutamide(DB01124)|Torasemide(DB00214)|Troleandomycin(DB01361)|Valdecoxib(DB00580)|Valsartan(DB00177)|Voriconazole(DB00582)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zileuton(DB00744)						239	231	233					10																	96701627		2203	4300	6503	SO:0001583	missense	1559				exogenous drug catabolic process|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative demethylation|steroid metabolic process|urea metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|caffeine oxidase activity|drug binding|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity	g.chr10:96701627T>C	M61855	CCDS7437.1	10q24.1	2007-12-14	2003-01-14		ENSG00000138109	ENSG00000138109		"Cytochrome P450s"	2623	protein-coding gene	gene with protein product		601130	"cytochrome P450, subfamily IIC (mephenytoin 4-hydroxylase), polypeptide 9"	CYP2C10		2009263, 7841444	Standard	NM_000771		Approved	P450IIC9	uc001kka.4	P11712	OTTHUMG00000018805	ENST00000260682.6:c.181T>C	10.37:g.96701627T>C	ENSP00000260682:p.Tyr61His					CYP2C9_ENST00000461906.1_3'UTR	p.Y61H	NM_000771.3	NP_000762.2	P11712	CP2C9_HUMAN		all cancers(201;6.93e-05)	2	193	+		Colorectal(252;0.0902)	61					P11713|Q16756|Q16872|Q5VX92|Q6IRV8|Q8WW80	Missense_Mutation	SNP	ENST00000260682.6	37	c.181T>C	CCDS7437.1	.	.	.	.	.	.	.	.	.	.	.	12.63	1.995715	0.35226	.	.	ENSG00000138109	ENST00000545448;ENST00000260682	T	0.74632	-0.86	3.56	3.56	0.40772	.	0.200793	0.34555	U	0.003876	D	0.85405	0.5689	M	0.86651	2.83	0.36276	D	0.855502	P;P;D	0.57571	0.945;0.945;0.98	P;P;D	0.66716	0.889;0.889;0.946	D	0.89460	0.3736	10	0.72032	D	0.01	.	10.3538	0.43952	0.0:0.0:0.0:1.0	.	61;61;61	Q5VX92;P11712;Q8WW80	.;CP2C9_HUMAN;.	H	61	ENSP00000260682:Y61H	ENSP00000260682:Y61H	Y	+	1	0	CYP2C9	96691617	0.998000	0.40836	0.804000	0.32291	0.164000	0.22412	3.066000	0.50002	1.595000	0.50050	0.397000	0.26171	TAT		0.413	CYP2C9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049501.1	NM_000771		44	84	0	0	0	1	0	44	84					C	96701627	T	C	96701627	3	2	435	1	0	0	0	0	1	0	0	0	4168	1522	53	4	187	4	CYP2C9	10	96701627	Missense_Mutation	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	89101	96701627	38833120	4795	25720											
C10orf129	142827	broad.mit.edu	37	chr10	96971776	96971776	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacatgccaaccttctgcccTgagactgttctaaatgtaag	11	11	7	12	0	2	1	0	1	2	1	2	2	2	1	3	0	3	2	3	0	4	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:96971776T>C	ENST00000394005.3	+	5	906	c.897T>C	c.(895-897)ccT>ccC	p.P299P	C10orf129_ENST00000341686.3_Silent_p.P299P|C10orf129_ENST00000430183.1_Silent_p.P144P			Q6P461	ACSM6_HUMAN		299					fatty acid metabolic process (GO:0006631)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|GTP binding (GO:0005525)|metal ion binding (GO:0046872)			breast(1)|kidney(2)|lung(1)|pancreas(1)|prostate(1)|skin(1)	7		Colorectal(252;0.083)		Epithelial(162;1.64e-06)|all cancers(201;3.71e-05)		CCTTCTGCCCTGAGACTGTTC	0.493																																						ENST00000341686.3																			0				breast(1)|kidney(2)|lung(1)|pancreas(1)|prostate(1)|skin(1)	7						c.(895-897)ccT>ccC		chromosome 10 open reading frame 129							169	148	155					10																	96971776		2203	4300	6503	SO:0001819	synonymous_variant	142827				fatty acid metabolic process	mitochondrion	ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding	g.chr10:96971776T>C																												ENST00000394005.3:c.897T>C	10.37:g.96971776T>C						C10orf129_ENST00000430183.1_Silent_p.P144P|C10orf129_ENST00000394005.3_Silent_p.P299P	p.P299P	NM_207321.2	NP_997204.2	Q6P461	ACSM6_HUMAN		Epithelial(162;1.64e-06)|all cancers(201;3.71e-05)	6	1022	+		Colorectal(252;0.083)	299					A4FU95|A4IF38|Q5VZX2|Q6ZTX1	Silent	SNP	ENST00000394005.3	37	c.897T>C	CCDS7440.2																																																																																				0.493	C10orf129-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049506.2			12	29	0	0	0	1	0	12	29					C	96971776	T	C	96971776	2	2	435	1	0	0	0	0	0	0	0	1	1593	1567	55	4		4	C10orf129	10	96971776	Silent	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	270149	96971776	38562971	4796	25721											
ENTPD1	953	broad.mit.edu	37	chr10	97607363	97607363	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tattggaaactatcaacaatGccatcaaagcatcctggagc	15	9	7	10	0	2	0	2	0	0	0	3	2	3	2	2	2	5	1	2	2	6	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:97607363G>A	ENST00000371205.4	+	7	1257	c.974G>A	c.(973-975)tGc>tAc	p.C325Y	ENTPD1_ENST00000539125.1_Missense_Mutation_p.C187Y|RP11-429G19.3_ENST00000433113.1_RNA|ENTPD1_ENST00000543964.1_Missense_Mutation_p.C217Y|ENTPD1_ENST00000453258.2_Missense_Mutation_p.C332Y|ENTPD1-AS1_ENST00000416301.1_RNA|ENTPD1_ENST00000371203.5_Missense_Mutation_p.C187Y|ENTPD1_ENST00000371207.3_Missense_Mutation_p.C337Y			P49961	ENTP1_HUMAN	ectonucleoside triphosphate diphosphohydrolase 1	325					ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell death (GO:0008219)|G-protein coupled receptor signaling pathway (GO:0007186)|platelet activation (GO:0030168)|purine ribonucleoside diphosphate catabolic process (GO:0009181)	basal lamina (GO:0005605)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|nucleoside-diphosphatase activity (GO:0017110)|nucleoside-triphosphatase activity (GO:0017111)			cervix(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|prostate(1)|skin(1)	16		Colorectal(252;0.0821)		Epithelial(162;1.31e-07)|all cancers(201;5.33e-06)		TATCAACAATGCCATCAAAGC	0.473																																						ENST00000371203.5																			0				cervix(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|prostate(1)|skin(1)	16						c.(559-561)tGc>tAc		ectonucleoside triphosphate diphosphohydrolase 1							120	118	119					10																	97607363		2203	4300	6503	SO:0001583	missense	953				cell adhesion	integral to plasma membrane	ATP binding	g.chr10:97607363G>A	S73813	CCDS7444.1, CCDS53556.1, CCDS53557.1, CCDS53558.1, CCDS41554.1	10q24.1	2014-03-03			ENSG00000138185	ENSG00000138185		"CD molecules"	3363	protein-coding gene	gene with protein product		601752		CD39		9226376, 24482476	Standard	NM_001098175		Approved	NTPDase-1, ATPDase, SPG64	uc010qoj.2	P49961	OTTHUMG00000018818	ENST00000371205.4:c.974G>A	10.37:g.97607363G>A	ENSP00000360248:p.Cys325Tyr					ENTPD1_ENST00000371207.3_Missense_Mutation_p.C337Y|ENTPD1_ENST00000453258.2_Missense_Mutation_p.C332Y|ENTPD1_ENST00000371205.4_Missense_Mutation_p.C325Y|ENTPD1_ENST00000539125.1_Missense_Mutation_p.C187Y|ENTPD1_ENST00000543964.1_Missense_Mutation_p.C217Y|RP11-429G19.3_ENST00000433113.1_RNA|ENTPD1-AS1_ENST00000416301.1_RNA	p.C187Y	NM_001164179.1|NM_001164182.1|NM_001776.5	NP_001157651.1|NP_001157654.1|NP_001767.3	P49961	ENTP1_HUMAN		Epithelial(162;1.31e-07)|all cancers(201;5.33e-06)	6	1147	+		Colorectal(252;0.0821)	325					A9Z1X8|B4DWB9|B4E1X1|B7Z599|G3XAF6|Q5T561|Q5T562|Q86VV3|Q9UQQ9|Q9Y3Q9	Missense_Mutation	SNP	ENST00000371205.4	37	c.560G>A	CCDS7444.1	.	.	.	.	.	.	.	.	.	.	G	18.96	3.733029	0.69189	.	.	ENSG00000138185	ENST00000453258;ENST00000371207;ENST00000543964;ENST00000539125;ENST00000371203;ENST00000371205	T;T;T;T;T;T	0.54279	0.58;0.58;0.58;0.58;0.58;0.58	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	T	0.82019	0.4946	H	0.95982	3.75	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	D	0.86906	0.2057	10	0.87932	D	0	-27.074	17.8363	0.88699	0.0:0.0:1.0:0.0	.	337;337;332;325	B4DWB9;G3XAF6;P49961-2;P49961	.;.;.;ENTP1_HUMAN	Y	332;337;217;187;187;325	ENSP00000390955:C332Y;ENSP00000360250:C337Y;ENSP00000442968:C217Y;ENSP00000440027:C187Y;ENSP00000360246:C187Y;ENSP00000360248:C325Y	ENSP00000360246:C187Y	C	+	2	0	ENTPD1	97597353	1.000000	0.71417	0.411000	0.26484	0.362000	0.29581	8.907000	0.92634	2.890000	0.99128	0.650000	0.86243	TGC		0.473	ENTPD1-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049566.1	NM_001776		40	57	0	0	0	1	0	40	57					A	97607363	G	A	97607363	3	1	435	1	0	0	0	0	1	0	0	0	5138	1319	46	3	1097	3	ENTPD1	10	97607363	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	635587	97607363	37927384	4797	25722											
ENTPD1	953	broad.mit.edu	37	chr10	97625945	97625945	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgtttgcagatccagggcagCgacgccggctggactttggg	6	9	16	10	3	0	1	0	0	0	1	1	3	1	2	2	4	2	4	2	4	0	2	rs139646807	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:97625945C>T	ENST00000371205.4	+	10	1621	c.1338C>T	c.(1336-1338)agC>agT	p.S446S	ENTPD1_ENST00000539125.1_Silent_p.S308S|RP11-429G19.3_ENST00000433113.1_RNA|RP11-248J23.7_ENST00000491114.1_Intron|ENTPD1-AS1_ENST00000451364.1_RNA|ENTPD1_ENST00000543964.1_Silent_p.S338S|ENTPD1_ENST00000453258.2_Silent_p.S453S|ENTPD1-AS1_ENST00000416301.1_RNA|ENTPD1_ENST00000371203.5_Silent_p.S308S|ENTPD1_ENST00000371207.3_Silent_p.S458S			P49961	ENTP1_HUMAN	ectonucleoside triphosphate diphosphohydrolase 1	446					ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell death (GO:0008219)|G-protein coupled receptor signaling pathway (GO:0007186)|platelet activation (GO:0030168)|purine ribonucleoside diphosphate catabolic process (GO:0009181)	basal lamina (GO:0005605)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|nucleoside-diphosphatase activity (GO:0017110)|nucleoside-triphosphatase activity (GO:0017111)			cervix(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|prostate(1)|skin(1)	16		Colorectal(252;0.0821)		Epithelial(162;1.31e-07)|all cancers(201;5.33e-06)		TCCAGGGCAGCGACGCCGGCT	0.507																																						ENST00000371203.5																			0				cervix(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|prostate(1)|skin(1)	16						c.(922-924)agC>agT		ectonucleoside triphosphate diphosphohydrolase 1		C	,,,,,,	0,4406		0,0,2203	164	124	138		1359,1374,1215,1014,924,924,1338	0.9	0	10	dbSNP_134	138	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	ENTPD1	NM_001098175.1,NM_001164178.1,NM_001164179.1,NM_001164181.1,NM_001164182.1,NM_001164183.1,NM_001776.5	,,,,,,	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	,,,,,,	453/518,458/523,405/470,338/403,308/373,308/373,446/511	97625945	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	953				cell adhesion	integral to plasma membrane	ATP binding	g.chr10:97625945C>T	S73813	CCDS7444.1, CCDS53556.1, CCDS53557.1, CCDS53558.1, CCDS41554.1	10q24.1	2014-03-03			ENSG00000138185	ENSG00000138185		"CD molecules"	3363	protein-coding gene	gene with protein product		601752		CD39		9226376, 24482476	Standard	NM_001098175		Approved	NTPDase-1, ATPDase, SPG64	uc010qoj.2	P49961	OTTHUMG00000018818	ENST00000371205.4:c.1338C>T	10.37:g.97625945C>T						RP11-248J23.7_ENST00000491114.1_Intron|ENTPD1_ENST00000371207.3_Silent_p.S458S|ENTPD1_ENST00000453258.2_Silent_p.S453S|ENTPD1_ENST00000371205.4_Silent_p.S446S|ENTPD1_ENST00000539125.1_Silent_p.S308S|ENTPD1_ENST00000543964.1_Silent_p.S338S|RP11-429G19.3_ENST00000433113.1_RNA|ENTPD1-AS1_ENST00000416301.1_RNA|ENTPD1-AS1_ENST00000451364.1_RNA	p.S308S	NM_001164179.1|NM_001164182.1|NM_001776.5	NP_001157651.1|NP_001157654.1|NP_001767.3	P49961	ENTP1_HUMAN		Epithelial(162;1.31e-07)|all cancers(201;5.33e-06)	9	1511	+		Colorectal(252;0.0821)	446					A9Z1X8|B4DWB9|B4E1X1|B7Z599|G3XAF6|Q5T561|Q5T562|Q86VV3|Q9UQQ9|Q9Y3Q9	Silent	SNP	ENST00000371205.4	37	c.924C>T	CCDS7444.1																																																																																				0.507	ENTPD1-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049566.1	NM_001776		8	8	0	0	0	1	0	8	8					T	97625945	C	T	97625945	2	4	435	1	0	0	0	0	0	0	0	1	5138	767	27	1		1	ENTPD1	10	97625945	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	18582	97625945	37908802	4798	25723											
ZNF518A	9849	broad.mit.edu	37	chr10	97916526	97916526	+	RNA	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caccatggcgaattaccttcAtatccttgtgaaatgtgcaa	12	12	7	10	1	1	1	1	1	0	0	2	2	2	1	3	1	2	1	3	1	5	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:97916526A>G	ENST00000534948.1	+	0	1304							Q6AHZ1	Z518A_HUMAN	zinc finger protein 518A						transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|urinary_tract(2)	24		Colorectal(252;0.0815)		Epithelial(162;4.23e-08)|all cancers(201;1.85e-06)		AATTACCTTCATATCCTTGTG	0.368																																						ENST00000534948.1																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|urinary_tract(2)	24								zinc finger protein 518A							149	148	148					10																	97916526		1889	4100	5989			9849				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr10:97916526A>G	AB002333	CCDS73170.1	10q23.33	2012-08-08	2007-12-07	2007-12-07	ENSG00000177853	ENSG00000177853		"Zinc fingers, C2H2-type"	29009	protein-coding gene	gene with protein product			"zinc finger protein 518"	ZNF518		9205841	Standard	NM_014803		Approved	KIAA0335	uc001klp.3	Q6AHZ1	OTTHUMG00000018828		10.37:g.97916526A>G										Q6AHZ1	Z518A_HUMAN		Epithelial(162;4.23e-08)|all cancers(201;1.85e-06)	0	1304	+		Colorectal(252;0.0815)						A0PJI5|O15044|Q32MP4	RNA	SNP	ENST00000534948.1	37																																																																																						0.368	ZNF518A-202	KNOWN	basic	processed_transcript	processed_transcript		NM_014803		46	74	0	0	0	1	0	46	74					G	97916526	A	G	97916526	1	3	435	0	1	0	0	0	0	0	0	0	17959	204	8	4		4	ZNF518A	10	97916526	RNA	SNP	A	TCGA-XK-AAIW-01A-11D-A41K-08	290581	97916526	37618221	4799	25724											
TLL2	7093	broad.mit.edu	37	chr10	98173004	98173004	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctccctgactgagccgcacGcgctggccaatggttggcct	5	9	12	15	3	1	2	0	2	1	0	2	2	1	2	4	3	1	3	4	3	1	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:98173004G>A	ENST00000357947.3	-	8	1218	c.993C>T	c.(991-993)cgC>cgT	p.R331R	TLL2_ENST00000469598.1_5'UTR	NM_012465.3	NP_036597.1	Q9Y6L7	TLL2_HUMAN	tolloid-like 2	331	Metalloprotease. {ECO:0000250}.				cell differentiation (GO:0030154)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|multicellular organismal development (GO:0007275)	extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	58		Colorectal(252;0.0846)		Epithelial(162;1.51e-07)|all cancers(201;7.59e-06)		TGAGCCGCACGCGCTGGCCAA	0.532																																						ENST00000357947.3																			0				NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	58						c.(991-993)cgC>cgT		tolloid-like 2							65	59	61					10																	98173004		2203	4300	6503	SO:0001819	synonymous_variant	7093				cell differentiation|multicellular organismal development|proteolysis	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding	g.chr10:98173004G>A	AF059516	CCDS7449.1	10q23-q24	2008-07-29			ENSG00000095587	ENSG00000095587			11844	protein-coding gene	gene with protein product		606743				10516436	Standard	NM_012465		Approved		uc001kml.2	Q9Y6L7	OTTHUMG00000018833	ENST00000357947.3:c.993C>T	10.37:g.98173004G>A						TLL2_ENST00000469598.1_5'UTR	p.R331R	NM_012465.3	NP_036597.1	Q9Y6L7	TLL2_HUMAN		Epithelial(162;1.51e-07)|all cancers(201;7.59e-06)	8	1218	-		Colorectal(252;0.0846)	331			Metalloprotease (By similarity).		A6NDK0|Q2M1H1|Q6PJN5|Q9UQ00	Silent	SNP	ENST00000357947.3	37	c.993C>T	CCDS7449.1																																																																																				0.532	TLL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049608.1			4	38	0	0	0	1	0	4	38					A	98173004	G	A	98173004	2	1	435	1	0	0	0	0	0	0	0	1	15943	1074	38	1		1	TLL2	10	98173004	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	256478	98173004	37361743	4800	25725											
C10orf12	26148	broad.mit.edu	37	chr10	98744275	98744275	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	taagagcgtatgcatcaaccCtctgatgtcccccaagcttg	10	10	8	13	1	2	2	1	1	1	1	3	2	3	2	3	0	4	3	3	0	4	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:98744275C>A	ENST00000286067.2	+	1	3235	c.3128C>A	c.(3127-3129)cCt>cAt	p.P1043H		NM_015652.2	NP_056467.2	Q8N655	CJ012_HUMAN	chromosome 10 open reading frame 12	1043										NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(3)|prostate(2)|skin(2)|stomach(4)	45		Colorectal(252;0.172)		Epithelial(162;6.35e-09)|all cancers(201;3.21e-07)		TGCATCAACCCTCTGATGTCC	0.502																																						ENST00000286067.2																			0				NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(3)|prostate(2)|skin(2)|stomach(4)	45						c.(3127-3129)cCt>cAt		chromosome 10 open reading frame 12							122	115	118					10																	98744275		2203	4300	6503	SO:0001583	missense	26148							g.chr10:98744275C>A	BC024315	CCDS7452.1	10q24.2	2014-03-11			ENSG00000155640	ENSG00000155640			23420	protein-coding gene	gene with protein product						24550272	Standard	NM_015652		Approved	DKFZP564P1916, FLJ13022	uc001kmv.3	Q8N655	OTTHUMG00000018840	ENST00000286067.2:c.3128C>A	10.37:g.98744275C>A	ENSP00000286067:p.Pro1043His						p.P1043H	NM_015652.2	NP_056467.2	Q8N655	CJ012_HUMAN		Epithelial(162;6.35e-09)|all cancers(201;3.21e-07)	1	3235	+		Colorectal(252;0.172)	1043					Q9H945|Q9Y457	Missense_Mutation	SNP	ENST00000286067.2	37	c.3128C>A	CCDS7452.1	.	.	.	.	.	.	.	.	.	.	C	10.98	1.503657	0.26949	.	.	ENSG00000155640	ENST00000286067;ENST00000539886	T	0.12255	2.7	5.7	4.81	0.61882	.	0.000000	0.47455	U	0.000227	T	0.31765	0.0807	L	0.51422	1.61	0.37348	D	0.910664	D	0.89917	1.0	D	0.80764	0.994	T	0.24977	-1.0145	10	0.87932	D	0	-8.1999	14.6585	0.68852	0.0:0.9304:0.0:0.0696	.	1043	Q8N655	CJ012_HUMAN	H	1043;877	ENSP00000286067:P1043H	ENSP00000286067:P1043H	P	+	2	0	C10orf12	98734265	1.000000	0.71417	0.996000	0.52242	0.050000	0.14768	3.801000	0.55545	1.441000	0.47550	-0.142000	0.14014	CCT		0.502	C10orf12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049627.1	NM_015652		32	56	1	0	1.56738e-10	1	1.67813e-10	32	56					A	98744275	C	A	98744275	3	1	435	1	0	0	0	0	1	0	0	0	1589	681	24	5	3130	5	C10orf12	10	98744275	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	571271	98744275	36790472	4801	25726											
SLIT1	6585	broad.mit.edu	37	chr10	98761034	98761034	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccacccatgacagggggcgCgtggtctggcagatggcata	8	7	15	11	2	1	2	0	1	1	1	2	2	2	2	2	5	0	2	2	5	1	1	rs143588507		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:98761034C>T	ENST00000266058.4	-	37	4685	c.4440G>A	c.(4438-4440)acG>acA	p.T1480T	SLIT1_ENST00000371070.4_Missense_Mutation_p.R1439H|ARHGAP19-SLIT1_ENST00000453547.2_3'UTR	NM_003061.2	NP_003052.2	O75093	SLIT1_HUMAN	slit homolog 1 (Drosophila)	1480	CTCK. {ECO:0000255|PROSITE- ProRule:PRU00039}.				axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|dorsal/ventral axon guidance (GO:0033563)|establishment of nucleus localization (GO:0040023)|forebrain morphogenesis (GO:0048853)|motor neuron axon guidance (GO:0008045)|negative chemotaxis (GO:0050919)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of synapse assembly (GO:0051964)|retinal ganglion cell axon guidance (GO:0031290)|spinal cord development (GO:0021510)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)	extracellular space (GO:0005615)	calcium ion binding (GO:0005509)|Roundabout binding (GO:0048495)	p.T1480T(1)		breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(37)|ovary(5)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	78		Colorectal(252;0.162)		Epithelial(162;2.02e-08)|all cancers(201;1.5e-06)		ACAGGGGGCGCGTGGTCTGGC	0.657																																						ENST00000371070.4																			1	Substitution - coding silent(1)	p.T1480T(1)	endometrium(1)	breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(37)|ovary(5)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	78						c.(4315-4317)cGc>cAc		slit homolog 1 (Drosophila)		C		0,4406		0,0,2203	49	57	54		4440	0.9	1	10	dbSNP_134	54	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	SLIT1	NM_003061.2		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		1480/1535	98761034	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	6585				axon extension involved in axon guidance|forebrain morphogenesis|motor axon guidance|negative chemotaxis|negative regulation of synaptogenesis	cytoplasm|extracellular space	calcium ion binding|Roundabout binding	g.chr10:98761034C>T	AB011537	CCDS7453.1	10q23.3-q24	2008-08-01	2001-11-28		ENSG00000187122	ENSG00000187122			11085	protein-coding gene	gene with protein product		603742	"slit (Drosophila) homolog 1"	SLIL1		9693030, 9813312	Standard	NM_003061		Approved	slit1, MEGF4, Slit-1, SLIT3	uc001kmw.2	O75093	OTTHUMG00000018843	ENST00000266058.4:c.4440G>A	10.37:g.98761034C>T						SLIT1_ENST00000266058.4_Silent_p.T1480T|ARHGAP19-SLIT1_ENST00000453547.2_3'UTR	p.R1439H			O75093	SLIT1_HUMAN		Epithelial(162;2.02e-08)|all cancers(201;1.5e-06)	37	4399	-		Colorectal(252;0.162)	1128			EGF-like 9.		Q5T0V1|Q8WWZ2|Q9UIL7	Missense_Mutation	SNP	ENST00000266058.4	37	c.4316G>A	CCDS7453.1	.	.	.	.	.	.	.	.	.	.	C	10.48	1.361794	0.24684	0.0	1.16E-4	ENSG00000187122	ENST00000371070	D	0.81579	-1.51	5.09	0.873	0.19118	.	.	.	.	.	T	0.76535	0.4001	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.69705	-0.5073	6	0.44086	T	0.13	.	2.7851	0.05371	0.1121:0.4723:0.1205:0.2952	.	.	.	.	H	1439	ENSP00000360109:R1439H	ENSP00000360109:R1439H	R	-	2	0	SLIT1	98751024	0.003000	0.15002	1.000000	0.80357	0.945000	0.59286	-1.144000	0.03197	0.308000	0.22923	-0.258000	0.10820	CGC		0.657	SLIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049636.1	NM_003061		29	46	0	0	0	1	0	29	46					T	98761034	C	T	98761034	2	4	435	1	0	0	0	0	0	0	0	1	14739	755	27	1		1	SLIT1	10	98761034	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	16759	98761034	36773713	4802	25727											
ARHGAP19	84986	broad.mit.edu	37	chr10	99019159	99019160	+	Splice_Site	INS	-	-	T																															tcttcccgtcaacactcacaINSttttttggccacaggacatg																										TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:99019159_99019160insT	ENST00000358531.4	-	5	867_868	c.839_840insA	c.(838-840)aat>aaAt	p.N280fs	ARHGAP19_ENST00000371027.1_Splice_Site_p.N271fs|ARHGAP19_ENST00000487035.1_5'Flank|ARHGAP19-SLIT1_ENST00000358308.3_Splice_Site_p.N280fs|ARHGAP19-SLIT1_ENST00000316676.8_Splice_Site_p.N280fs|ARHGAP19-SLIT1_ENST00000453547.2_Splice_Site_p.N280fs|ARHGAP19_ENST00000355366.5_Splice_Site_p.N271fs	NM_001204300.1|NM_032900.5	NP_001191229.1|NP_116289.4	Q14CB8	RHG19_HUMAN	Rho GTPase activating protein 19	280	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|nucleus (GO:0005634)	GTPase activator activity (GO:0005096)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|stomach(2)|urinary_tract(1)	13		Colorectal(252;0.0854)		Epithelial(162;7.65e-09)|all cancers(201;4.49e-07)		CAACACTCACATTTTTTGGCCA	0.45																																						ENST00000453547.2																			0											c.e5+1																																						SO:0001630	splice_region_variant	0							g.chr10:99019159_99019160insT	AK074122	CCDS7454.2, CCDS58092.1, CCDS73175.1	10q24.2	2011-06-29			ENSG00000213390	ENSG00000213390		"Rho GTPase activating proteins"	23724	protein-coding gene	gene with protein product		611587					Standard	NM_032900		Approved	FLJ00194, MGC14258	uc001knb.3	Q14CB8	OTTHUMG00000018845	ENST00000358531.4:c.840+1->A	10.37:g.99019165_99019165dupT						ARHGAP19_ENST00000371027.1_Splice_Site_p.S271_splice|ARHGAP19_ENST00000358531.4_Splice_Site_p.S280_splice|ARHGAP19-SLIT1_ENST00000358308.3_Splice_Site_p.S280_splice|ARHGAP19-SLIT1_ENST00000316676.8_Splice_Site_p.S280_splice|ARHGAP19_ENST00000355366.5_Splice_Site_p.S271_splice	p.S280_splice							5	838_839	-								A1XCP1|B4DZR1|Q14CF2|Q5J8M2|Q5T460|Q5T462|Q68DG6|Q8N9X1|Q8NF34|Q8TEK1	Splice_Site	INS	ENST00000358531.4	37	c.840_splice	CCDS7454.2																																																																																				0.45	ARHGAP19-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049647.2	NM_032900	Frame_Shift_Ins	28	72						28	72	---	---	---	---	T	99019160	-	T	99019159	8	5	435	1	0	1	1	0	0	0	1	0	869	231	8	0	676	0	ARHGAP19	10	99019159	Splice_Site	INS	-	TCGA-XK-AAIW-01A-11D-A41K-08	258125	99019159	36515588	4803	25728											
ARHGAP19	84986	broad.mit.edu	37	chr10	99025877	99025877	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	agatcacaaaactgcagatgGcatcactgaaaaacacagaa	20	5	7	9	0	2	4	2	1	0	3	2	4	2	4	0	1	3	2	0	1	5	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:99025877G>A	ENST00000358531.4	-	2	90	c.62C>T	c.(61-63)gCc>gTc	p.A21V	ARHGAP19_ENST00000371027.1_Missense_Mutation_p.A12V|ARHGAP19-SLIT1_ENST00000358308.3_Missense_Mutation_p.A21V|ARHGAP19-SLIT1_ENST00000316676.8_Missense_Mutation_p.A21V|ARHGAP19-SLIT1_ENST00000453547.2_Missense_Mutation_p.A21V|ARHGAP19_ENST00000355366.5_Missense_Mutation_p.A12V	NM_001204300.1|NM_032900.5	NP_001191229.1|NP_116289.4	Q14CB8	RHG19_HUMAN	Rho GTPase activating protein 19	21					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|nucleus (GO:0005634)	GTPase activator activity (GO:0005096)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|stomach(2)|urinary_tract(1)	13		Colorectal(252;0.0854)		Epithelial(162;7.65e-09)|all cancers(201;4.49e-07)		ACTGCAGATGGCATCACTGAA	0.408																																						ENST00000453547.2																			0											c.(61-63)gCc>gTc									73	72	73					10																	99025877		2203	4300	6503	SO:0001583	missense	0							g.chr10:99025877G>A	AK074122	CCDS7454.2, CCDS58092.1, CCDS73175.1	10q24.2	2011-06-29			ENSG00000213390	ENSG00000213390		"Rho GTPase activating proteins"	23724	protein-coding gene	gene with protein product		611587					Standard	NM_032900		Approved	FLJ00194, MGC14258	uc001knb.3	Q14CB8	OTTHUMG00000018845	ENST00000358531.4:c.62C>T	10.37:g.99025877G>A	ENSP00000351333:p.Ala21Val					ARHGAP19_ENST00000358531.4_Missense_Mutation_p.A21V|ARHGAP19-SLIT1_ENST00000316676.8_Missense_Mutation_p.A21V|ARHGAP19_ENST00000355366.5_Missense_Mutation_p.A12V|ARHGAP19-SLIT1_ENST00000358308.3_Missense_Mutation_p.A21V|ARHGAP19_ENST00000371027.1_Missense_Mutation_p.A12V	p.A21V							2	61	-								A1XCP1|B4DZR1|Q14CF2|Q5J8M2|Q5T460|Q5T462|Q68DG6|Q8N9X1|Q8NF34|Q8TEK1	Missense_Mutation	SNP	ENST00000358531.4	37	c.62C>T	CCDS7454.2	.	.	.	.	.	.	.	.	.	.	G	20.6	4.025645	0.75390	.	.	ENSG00000213390	ENST00000453547;ENST00000316676;ENST00000355366;ENST00000358531;ENST00000371027;ENST00000358308	T;T;T;T;T;T	0.10668	2.88;2.92;2.92;2.92;2.93;2.85	5.54	5.54	0.83059	.	0.254426	0.30538	U	0.009408	T	0.16300	0.0392	N	0.19112	0.55	0.46044	D	0.99883	D;D;B	0.59767	0.986;0.976;0.141	P;P;B	0.53593	0.73;0.541;0.041	T	0.01626	-1.1309	10	0.72032	D	0.01	-7.1654	19.4669	0.94946	0.0:0.0:1.0:0.0	.	21;21;12	Q14CB8-6;Q14CB8;Q14CB8-3	.;RHG19_HUMAN;.	V	21;21;12;21;12;21	ENSP00000414774:A21V;ENSP00000324468:A21V;ENSP00000347526:A12V;ENSP00000351333:A21V;ENSP00000360066:A12V;ENSP00000351058:A21V	ENSP00000324468:A21V	A	-	2	0	ARHGAP19	99015867	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.653000	0.83643	2.581000	0.87130	0.557000	0.71058	GCC		0.408	ARHGAP19-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049647.2	NM_032900		30	42	0	0	0	1	0	30	42					A	99025877	G	A	99025877	3	1	435	1	0	0	0	0	1	0	0	0	869	1203	42	3	1466	3	ARHGAP19	10	99025877	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	6718	99025877	36508870	4804	25729											
RRP12	23223	broad.mit.edu	37	chr10	99133475	99133475	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ctgtaggccttgtgcagaacCcaggcaggagtgtccacatc	9	8	12	12	0	0	1	0	0	0	1	2	2	1	2	3	3	2	3	3	3	2	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:99133475C>T	ENST00000370992.4	-	17	1994	c.1883G>A	c.(1882-1884)gGg>gAg	p.G628E	RRP12_ENST00000414986.1_Missense_Mutation_p.G567E|RRP12_ENST00000479481.1_5'Flank|RRP12_ENST00000315563.6_Missense_Mutation_p.G528E|RRP12_ENST00000536831.1_Missense_Mutation_p.G346E	NM_015179.3	NP_055994.2	Q5JTH9	RRP12_HUMAN	ribosomal RNA processing 12 homolog (S. cerevisiae)	628						integral component of membrane (GO:0016021)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(2)|lung(13)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37		Colorectal(252;0.162)		Epithelial(162;2.72e-09)|all cancers(201;1.76e-07)		TGTGCAGAACCCAGGCAGGAG	0.622																																						ENST00000370992.4																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(2)|lung(13)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37						c.(1882-1884)gGg>gAg		ribosomal RNA processing 12 homolog (S. cerevisiae)							80	71	74					10																	99133475		2203	4300	6503	SO:0001583	missense	23223					integral to membrane|nuclear membrane|nucleolus	protein binding	g.chr10:99133475C>T		CCDS7457.1, CCDS44467.1, CCDS60605.1	10q24.2	2006-11-06	2006-11-06	2006-11-06	ENSG00000052749	ENSG00000052749			29100	protein-coding gene	gene with protein product			"KIAA0690"	KIAA0690		9734811	Standard	NM_015179		Approved		uc001knf.3	Q5JTH9	OTTHUMG00000018855	ENST00000370992.4:c.1883G>A	10.37:g.99133475C>T	ENSP00000360031:p.Gly628Glu					RRP12_ENST00000536831.1_Missense_Mutation_p.G346E|RRP12_ENST00000414986.1_Missense_Mutation_p.G567E|RRP12_ENST00000315563.6_Missense_Mutation_p.G528E	p.G628E	NM_015179.3	NP_055994.2	Q5JTH9	RRP12_HUMAN		Epithelial(162;2.72e-09)|all cancers(201;1.76e-07)	17	1994	-		Colorectal(252;0.162)	628					B4DK00|E9PCK7|Q5JTH8|Q69YK4|Q96E87|Q9BUH3|Q9Y4C7	Missense_Mutation	SNP	ENST00000370992.4	37	c.1883G>A	CCDS7457.1	.	.	.	.	.	.	.	.	.	.	C	18.19	3.568800	0.65765	.	.	ENSG00000052749	ENST00000370992;ENST00000315563;ENST00000414986;ENST00000536831	T;T;T;T	0.63096	-0.02;-0.02;-0.02;-0.02	4.71	4.71	0.59529	Armadillo-type fold (1);Uncharacterised domain NUC173 (1);	0.000000	0.85682	D	0.000000	D	0.83004	0.5160	M	0.90082	3.085	0.80722	D	1	D;D;D;D	0.89917	1.0;0.991;0.999;0.999	D;P;D;D	0.87578	0.998;0.9;0.971;0.976	D	0.86505	0.1806	9	.	.	.	-28.8224	17.821	0.88650	0.0:1.0:0.0:0.0	.	567;528;346;628	E9PCK7;Q5JTH9-2;F5H456;Q5JTH9	.;.;.;RRP12_HUMAN	E	628;528;567;346	ENSP00000360031:G628E;ENSP00000324315:G528E;ENSP00000414863:G567E;ENSP00000446184:G346E	.	G	-	2	0	RRP12	99123465	1.000000	0.71417	0.974000	0.42286	0.214000	0.24535	7.374000	0.79633	2.440000	0.82611	0.462000	0.41574	GGG		0.622	RRP12-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049699.4	NM_015179		15	24	0	0	0	1	0	15	24					T	99133475	C	T	99133475	3	4	435	1	0	0	0	0	1	0	0	0	13686	623	22	3	2082	3	RRP12	10	99133475	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	107598	99133475	36401272	4805	25730											
RRP12	23223	broad.mit.edu	37	chr10	99141223	99141223	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcagccatgtggggagccacGcattccttcaggatctcctg	7	10	11	13	1	3	0	2	0	1	0	5	2	4	2	4	3	2	1	4	3	0	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:99141223G>A	ENST00000370992.4	-	12	1449	c.1338C>T	c.(1336-1338)tgC>tgT	p.C446C	RRP12_ENST00000414986.1_Silent_p.C385C|RRP12_ENST00000315563.6_Silent_p.C346C|RRP12_ENST00000536831.1_Silent_p.C164C	NM_015179.3	NP_055994.2	Q5JTH9	RRP12_HUMAN	ribosomal RNA processing 12 homolog (S. cerevisiae)	446						integral component of membrane (GO:0016021)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(2)|lung(13)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37		Colorectal(252;0.162)		Epithelial(162;2.72e-09)|all cancers(201;1.76e-07)		GGGGAGCCACGCATTCCTTCA	0.612																																						ENST00000370992.4																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(2)|lung(13)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37						c.(1336-1338)tgC>tgT		ribosomal RNA processing 12 homolog (S. cerevisiae)							62	50	54					10																	99141223		2203	4300	6503	SO:0001819	synonymous_variant	23223					integral to membrane|nuclear membrane|nucleolus	protein binding	g.chr10:99141223G>A		CCDS7457.1, CCDS44467.1, CCDS60605.1	10q24.2	2006-11-06	2006-11-06	2006-11-06	ENSG00000052749	ENSG00000052749			29100	protein-coding gene	gene with protein product			"KIAA0690"	KIAA0690		9734811	Standard	NM_015179		Approved		uc001knf.3	Q5JTH9	OTTHUMG00000018855	ENST00000370992.4:c.1338C>T	10.37:g.99141223G>A						RRP12_ENST00000536831.1_Silent_p.C164C|RRP12_ENST00000414986.1_Silent_p.C385C|RRP12_ENST00000315563.6_Silent_p.C346C	p.C446C	NM_015179.3	NP_055994.2	Q5JTH9	RRP12_HUMAN		Epithelial(162;2.72e-09)|all cancers(201;1.76e-07)	12	1449	-		Colorectal(252;0.162)	446					B4DK00|E9PCK7|Q5JTH8|Q69YK4|Q96E87|Q9BUH3|Q9Y4C7	Silent	SNP	ENST00000370992.4	37	c.1338C>T	CCDS7457.1																																																																																				0.612	RRP12-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049699.4	NM_015179		5	12	0	0	0	1	0	5	12					A	99141223	G	A	99141223	2	1	435	1	0	0	0	0	0	0	0	1	13686	1079	38	1		1	RRP12	10	99141223	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	7748	99141223	36393524	4806	25731											
ZDHHC16	84287	broad.mit.edu	37	chr10	99211512	99211512	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gctgctgggttacaggcgccGctgtccacctctactccggg	4	9	13	15	3	1	0	0	0	1	0	3	0	3	0	4	3	3	4	4	3	2	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:99211512G>A	ENST00000370854.3	+	2	269	c.80G>A	c.(79-81)cGc>cAc	p.R27H	ZDHHC16_ENST00000352634.4_Missense_Mutation_p.R27H|ZDHHC16_ENST00000393760.1_Missense_Mutation_p.R27H|ZDHHC16_ENST00000370842.2_Missense_Mutation_p.R27H|ZDHHC16_ENST00000495735.1_3'UTR|ZDHHC16_ENST00000370846.4_Missense_Mutation_p.R27H|ZDHHC16_ENST00000353979.3_Missense_Mutation_p.R27H|ZDHHC16_ENST00000345745.5_Missense_Mutation_p.R27H	NM_032327.2	NP_115703.2	Q969W1	ZDH16_HUMAN	zinc finger, DHHC-type containing 16	27					apoptotic process (GO:0006915)|protein palmitoylation (GO:0018345)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			kidney(4)|large_intestine(3)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	14		Colorectal(252;0.0846)		Epithelial(162;5.81e-10)|all cancers(201;4.19e-08)		TACAGGCGCCGCTGTCCACCT	0.667																																						ENST00000393760.1																			0				kidney(4)|large_intestine(3)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	14						c.(79-81)cGc>cAc		zinc finger, DHHC-type containing 16							37	40	39					10																	99211512		2203	4300	6503	SO:0001583	missense	84287				apoptosis	endoplasmic reticulum membrane|integral to membrane	acyltransferase activity|zinc ion binding	g.chr10:99211512G>A	AF258563	CCDS7460.1, CCDS7461.1, CCDS7462.1, CCDS7463.1, CCDS73176.1	10q24.1	2008-05-02			ENSG00000171307	ENSG00000171307		"Zinc fingers, DHHC-type"	20714	protein-coding gene	gene with protein product						12021275	Standard	NM_198043		Approved	APH2	uc001knk.3	Q969W1	OTTHUMG00000018847	ENST00000370854.3:c.80G>A	10.37:g.99211512G>A	ENSP00000359891:p.Arg27His					ZDHHC16_ENST00000370842.2_Missense_Mutation_p.R27H|ZDHHC16_ENST00000345745.5_Missense_Mutation_p.R27H|ZDHHC16_ENST00000370854.3_Missense_Mutation_p.R27H|ZDHHC16_ENST00000352634.4_Missense_Mutation_p.R27H|ZDHHC16_ENST00000370846.4_Missense_Mutation_p.R27H|ZDHHC16_ENST00000353979.3_Missense_Mutation_p.R27H|ZDHHC16_ENST00000495735.1_3'UTR	p.R27H	NM_198046.1	NP_932163.1	Q969W1	ZDH16_HUMAN		Epithelial(162;5.81e-10)|all cancers(201;4.19e-08)	3	429	+		Colorectal(252;0.0846)	27					D3DR52|D3DR53|D3DR54|Q5JTG7|Q5JTH0|Q8N4Z6|Q8WY84|Q9BSV3	Missense_Mutation	SNP	ENST00000370854.3	37	c.80G>A	CCDS7460.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	24.3|24.3	4.513036|4.513036	0.85389|0.85389	.|.	.|.	ENSG00000171307|ENSG00000171307	ENST00000420089|ENST00000370854;ENST00000393760;ENST00000414567;ENST00000370846;ENST00000352634;ENST00000353979;ENST00000370842;ENST00000345745;ENST00000433086	.|T;T;T;T;T;T;T;T;T	.|0.20332	.|2.08;2.08;2.08;2.08;2.08;2.08;2.08;2.08;2.08	5.59|5.59	5.59|5.59	0.84812|0.84812	.|.	.|0.112641	.|0.64402	.|D	.|0.000014	T|T	0.28200|0.28200	0.0696|0.0696	N|N	0.04959|0.04959	-0.14|-0.14	0.41952|0.41952	D|D	0.990668|0.990668	.|D;D;D;D;D;D;D;D	.|0.89917	.|0.998;1.0;0.999;0.996;0.999;1.0;0.999;0.998	.|D;D;P;P;D;D;D;D	.|0.85130	.|0.964;0.992;0.858;0.586;0.984;0.997;0.984;0.976	T|T	0.42155|0.42155	-0.9468|-0.9468	5|10	.|0.66056	.|D	.|0.02	0.2961|0.2961	17.755|17.755	0.88446|0.88446	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|27;27;27;2;27;27;27;27	.|B4DNL2;E9PCL9;B1AMU0;B1AMU1;Q969W1-3;Q969W1-4;Q969W1-2;Q969W1	.|.;.;.;.;.;.;.;ZDH16_HUMAN	T|H	3|27	.|ENSP00000359891:R27H;ENSP00000377357:R27H;ENSP00000400719:R27H;ENSP00000359883:R27H;ENSP00000345383:R27H;ENSP00000323360:R27H;ENSP00000359879:R27H;ENSP00000304487:R27H;ENSP00000398532:R27H	.|ENSP00000304487:R27H	A|R	+|+	1|2	0|0	ZDHHC16|ZDHHC16	99201502|99201502	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	6.797000|6.797000	0.75150|0.75150	2.641000|2.641000	0.89580|0.89580	0.561000|0.561000	0.74099|0.74099	GCT|CGC		0.667	ZDHHC16-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049658.2	NM_032327		21	21	0	0	0	1	0	21	21					A	99211512	G	A	99211512	3	1	435	1	0	0	0	0	1	0	0	0	17603	1087	38	1	82	1	ZDHHC16	10	99211512	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	70289	99211512	36323235	4807	25732											
DHDPSL	112817	broad.mit.edu	37	chr10	99359467	99359467	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tctctccaatccctgtggtgCtgtacagtgtcccagccaac	7	11	8	15	0	1	0	0	0	1	0	5	0	4	0	4	1	4	2	4	1	3	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:99359467C>A	ENST00000370646.4	+	4	860	c.499C>A	c.(499-501)Ctg>Atg	p.L167M	HOGA1_ENST00000370647.4_Intron|PI4K2A_ENST00000555577.1_Intron|PI4K2A_ENST00000370649.3_Intron	NM_138413.3	NP_612422.2	Q86XE5	HOGA1_HUMAN	4-hydroxy-2-oxoglutarate aldolase 1	167					4-hydroxyproline catabolic process (GO:0019470)|glyoxylate catabolic process (GO:0009436)|glyoxylate metabolic process (GO:0046487)|oxalate metabolic process (GO:0033609)|pyruvate biosynthetic process (GO:0042866)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	4-hydroxy-2-oxoglutarate aldolase activity (GO:0008700)|protein homodimerization activity (GO:0042803)			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|prostate(2)|skin(1)|stomach(1)	14						CCCTGTGGTGCTGTACAGTGT	0.617																																						ENST00000370646.4																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|prostate(2)|skin(1)|stomach(1)	14						c.(499-501)Ctg>Atg		4-hydroxy-2-oxoglutarate aldolase 1							91	94	93					10																	99359467		2203	4300	6503	SO:0001583	missense	112817							g.chr10:99359467C>A	BC011916	CCDS7467.1, CCDS44469.1	10q24.1	2010-12-19	2010-12-19	2010-12-19	ENSG00000241935	ENSG00000241935			25155	protein-coding gene	gene with protein product	"dihydrodipicolinate synthetase homolog 2 (E. coli)", "N-acetylneuraminate pyruvate lyase 2 (putative)"	613597	"chromosome 10 open reading frame 65", "dihydrodipicolinate synthase-like, mitochondrial"	C10orf65, DHDPSL		20797690	Standard	NM_001134670		Approved	FLJ37472, DHDPS2, NPL2		Q86XE5	OTTHUMG00000018859	ENST00000370646.4:c.499C>A	10.37:g.99359467C>A	ENSP00000359680:p.Leu167Met					HOGA1_ENST00000370647.4_Intron|PI4K2A_ENST00000370649.3_Intron|PI4K2A_ENST00000555577.1_Intron	p.L167M	NM_138413.3	NP_612422.2					4	860	+								A8K075|Q5T680|Q5T684|Q711P0|Q8N9F2|Q96EV5	Missense_Mutation	SNP	ENST00000370646.4	37	c.499C>A	CCDS7467.1	.	.	.	.	.	.	.	.	.	.	C	20.1	3.931598	0.73442	.	.	ENSG00000241935	ENST00000370646	D	0.96745	-4.11	5.09	3.14	0.36123	Aldolase-type TIM barrel (1);	0.000000	0.64402	D	0.000001	D	0.97820	0.9284	M	0.85630	2.765	0.52501	D	0.999959	D	0.89917	1.0	D	0.91635	0.999	D	0.97210	0.9870	10	0.59425	D	0.04	-11.3361	11.0031	0.47618	0.0:0.8395:0.0:0.1605	.	167	Q86XE5	HOGA1_HUMAN	M	167	ENSP00000359680:L167M	ENSP00000359680:L167M	L	+	1	2	HOGA1	99349457	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.422000	0.44696	0.468000	0.27243	0.650000	0.86243	CTG		0.617	HOGA1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049726.1	NM_138413		9	106	1	0	0.000274275	1	0.000279654	9	106					A	99359467	C	A	99359467	3	1	435	1	0	0	0	0	1	0	0	0	4480	796	28	5	513	5	DHDPSL	10	99359467	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	147955	99359467	36175280	4808	25733											
PI4K2A	55361	broad.mit.edu	37	chr10	99426869	99426869	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ataagcagattgctgtcatgCggggccaggtaagcctggga	10	8	15	8	1	1	1	1	0	0	1	1	2	1	2	2	4	4	3	2	4	2	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:99426869C>T	ENST00000370631.3	+	8	1327	c.1270C>T	c.(1270-1272)Cgg>Tgg	p.R424W	PI4K2A_ENST00000555577.1_Missense_Mutation_p.R394W|PI4K2A_ENST00000370649.3_Missense_Mutation_p.R394W	NM_018425.2	NP_060895.1	Q9BTU6	P4K2A_HUMAN	phosphatidylinositol 4-kinase type 2 alpha	424	PI3K/PI4K.				basophil degranulation (GO:0002561)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite (GO:0030425)|early endosome membrane (GO:0031901)|endosome (GO:0005768)|exocytic vesicle (GO:0070382)|Golgi apparatus (GO:0005794)|growing cell tip (GO:0035838)|host cell presynaptic membrane (GO:0044231)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|presynaptic membrane (GO:0042734)|protein complex (GO:0043234)|synaptic vesicle membrane (GO:0030672)	1-phosphatidylinositol 4-kinase activity (GO:0004430)|AP-3 adaptor complex binding (GO:0035651)|ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)			endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|skin(1)	12		Colorectal(252;0.162)		Epithelial(162;1.24e-10)|all cancers(201;1.2e-08)		TGCTGTCATGCGGGGCCAGGT	0.498																																						ENST00000370631.3																			0				endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|skin(1)	12						c.(1270-1272)Cgg>Tgg		phosphatidylinositol 4-kinase type 2 alpha							146	134	138					10																	99426869		2203	4300	6503	SO:0001583	missense	55361				phosphatidylinositol biosynthetic process	cytoplasm|integral to plasma membrane|membrane raft	1-phosphatidylinositol 4-kinase activity|ATP binding|magnesium ion binding	g.chr10:99426869C>T	AF070611	CCDS7469.1	10q24	2011-02-09			ENSG00000155252	ENSG00000155252			30031	protein-coding gene	gene with protein product		609763				11244087, 11279162	Standard	NM_018425		Approved	PI4KII, DKFZP761G1923, PIK42A	uc001kog.1	Q9BTU6	OTTHUMG00000018863	ENST00000370631.3:c.1270C>T	10.37:g.99426869C>T	ENSP00000359665:p.Arg424Trp					PI4K2A_ENST00000370649.3_Missense_Mutation_p.R394W|PI4K2A_ENST00000555577.1_Missense_Mutation_p.R394W	p.R424W	NM_018425.2	NP_060895.1	Q9BTU6	P4K2A_HUMAN		Epithelial(162;1.24e-10)|all cancers(201;1.2e-08)	8	1327	+		Colorectal(252;0.162)	424			PI3K/PI4K.		D3DR59|Q9NSG8	Missense_Mutation	SNP	ENST00000370631.3	37	c.1270C>T	CCDS7469.1	.	.	.	.	.	.	.	.	.	.	C	15.06	2.722452	0.48728	.	.	ENSG00000155252;ENSG00000155252;ENSG00000249967	ENST00000555577;ENST00000370631;ENST00000370649	D;D	0.89415	-2.51;-2.51	5.36	1.89	0.25635	Phosphatidylinositol 3-/4-kinase, catalytic (1);	0.000000	0.85682	D	0.000000	D	0.95082	0.8407	M	0.91300	3.195	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.95480	0.8559	10	0.87932	D	0	-14.3038	14.4906	0.67647	0.6438:0.3562:0.0:0.0	.	394;394;424	E9PAM4;B4DEP8;Q9BTU6	.;.;P4K2A_HUMAN	W	394;424;394	ENSP00000452243:R394W;ENSP00000359683:R394W	ENSP00000359665:R424W	R	+	1	2	PI4K2A;RP11-548K23.11	99416859	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	2.864000	0.48404	0.438000	0.26450	0.462000	0.41574	CGG		0.498	PI4K2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049735.1	NM_018425		39	60	0	0	0	1	0	39	60					T	99426869	C	T	99426869	3	4	435	1	0	0	0	0	1	0	0	0	11871	759	27	1	1300	1	PI4K2A	10	99426869	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	67402	99426869	36107878	4809	25734											
SFRP5	6425	broad.mit.edu	37	chr10	99527606	99527606	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tatcttgatctccttgatgcGcattttgaccactgtgggaa	8	15	9	9	1	2	3	0	3	2	0	3	4	2	4	2	1	1	1	2	1	2	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:99527606G>A	ENST00000266066.3	-	3	737	c.619C>T	c.(619-621)Cgc>Tgc	p.R207C		NM_003015.3	NP_003006.2	Q5T4F7	SFRP5_HUMAN	secreted frizzled-related protein 5	207	NTR. {ECO:0000255|PROSITE- ProRule:PRU00295}.				anatomical structure morphogenesis (GO:0009653)|apoptotic process (GO:0006915)|brain development (GO:0007420)|cell differentiation (GO:0030154)|convergent extension involved in axis elongation (GO:0060028)|digestive tract morphogenesis (GO:0048546)|establishment or maintenance of cell polarity (GO:0007163)|gonad development (GO:0008406)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catenin import into nucleus (GO:0035414)|negative regulation of cell proliferation (GO:0008285)|negative regulation of JUN kinase activity (GO:0043508)|negative regulation of planar cell polarity pathway involved in axis elongation (GO:2000041)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of Wnt signaling pathway involved in digestive tract morphogenesis (GO:2000057)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|post-anal tail morphogenesis (GO:0036342)|signal transduction (GO:0007165)|vasculature development (GO:0001944)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	PDZ domain binding (GO:0030165)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)	p.R207C(2)		large_intestine(1)|lung(4)	5		Colorectal(252;0.234)		Epithelial(162;4.98e-10)|all cancers(201;3.58e-08)		TCCTTGATGCGCATTTTGACC	0.542																																						ENST00000266066.3																			2	Substitution - Missense(2)	p.R207C(2)	large_intestine(2)	large_intestine(1)|lung(4)	5						c.(619-621)Cgc>Tgc		secreted frizzled-related protein 5							62	64	63					10																	99527606		2203	4300	6503	SO:0001583	missense	6425				apoptosis|brain development|cell differentiation|embryo development|establishment or maintenance of cell polarity|gonad development|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of cell proliferation|negative regulation of protein kinase B signaling cascade|negative regulation of sequence-specific DNA binding transcription factor activity|vasculature development|visual perception	cytoplasm|extracellular space|plasma membrane	PDZ domain binding|Wnt receptor activity|Wnt-protein binding	g.chr10:99527606G>A	AF017988	CCDS7472.1	10q24	2008-07-10			ENSG00000120057	ENSG00000120057		"Secreted frizzled-related proteins"	10779	protein-coding gene	gene with protein product	"secreted apoptosis related protein 3"	604158				9391078	Standard	NM_003015		Approved	SARP3	uc001kor.4	Q5T4F7	OTTHUMG00000018866	ENST00000266066.3:c.619C>T	10.37:g.99527606G>A	ENSP00000266066:p.Arg207Cys						p.R207C	NM_003015.3	NP_003006.2	Q5T4F7	SFRP5_HUMAN		Epithelial(162;4.98e-10)|all cancers(201;3.58e-08)	3	737	-		Colorectal(252;0.234)	207			NTR.		O14780|Q86TH7	Missense_Mutation	SNP	ENST00000266066.3	37	c.619C>T	CCDS7472.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.077243	0.76415	.	.	ENSG00000120057	ENST00000266066	T	0.25085	1.82	5.74	5.74	0.90152	Tissue inhibitor of metalloproteinases-like, OB-fold (1);Netrin domain (1);Netrin module, non-TIMP type (2);	0.057147	0.64402	D	0.000002	T	0.28896	0.0717	L	0.49350	1.555	0.80722	D	1	P	0.43431	0.807	B	0.37989	0.262	T	0.07366	-1.0776	10	0.87932	D	0	.	19.9077	0.97014	0.0:0.0:1.0:0.0	.	207	Q5T4F7	SFRP5_HUMAN	C	207	ENSP00000266066:R207C	ENSP00000266066:R207C	R	-	1	0	SFRP5	99517596	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.399000	0.52586	2.712000	0.92718	0.561000	0.74099	CGC		0.542	SFRP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049742.1	NM_003015		31	69	0	0	0	1	0	31	69					A	99527606	G	A	99527606	3	1	435	1	0	0	0	0	1	0	0	0	14164	1087	38	1	338	1	SFRP5	10	99527606	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	100737	99527606	36007141	4810	25735											
CRTAC1	55118	broad.mit.edu	37	chr10	99640010	99640010	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctggggccccactcacccacGcaggctgtgccatcctcgtt	5	8	10	18	2	1	0	1	0	0	0	3	0	2	0	5	3	1	3	5	3	0	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:99640010G>A	ENST00000370597.3	-	14	2170	c.1815C>T	c.(1813-1815)tgC>tgT	p.C605C	CRTAC1_ENST00000370591.2_Silent_p.C605C|CRTAC1_ENST00000468549.1_5'Flank|CRTAC1_ENST00000298819.4_Missense_Mutation_p.A591V	NM_018058.6	NP_060528.3	Q9NQ79	CRAC1_HUMAN	cartilage acidic protein 1	605	EGF-like.					extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)	p.C605C(1)		autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(6)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	35		Colorectal(252;0.24)		Epithelial(162;2.18e-10)|all cancers(201;3.27e-09)		ACTCACCCACGCAGGCTGTGC	0.602																																						ENST00000298819.4																			1	Substitution - coding silent(1)	p.C605C(1)	kidney(1)	autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(6)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	35						c.(1771-1773)gCg>gTg		cartilage acidic protein 1							80	74	76					10																	99640010		2203	4300	6503	SO:0001819	synonymous_variant	55118					proteinaceous extracellular matrix	calcium ion binding	g.chr10:99640010G>A	AJ276171	CCDS31266.1, CCDS55723.1	10q22	2007-12-03			ENSG00000095713	ENSG00000095713			14882	protein-coding gene	gene with protein product		606276				11139377	Standard	NM_018058		Approved	FLJ10320, CEP-68, ASPIC1	uc001kou.2	Q9NQ79	OTTHUMG00000018871	ENST00000370597.3:c.1815C>T	10.37:g.99640010G>A						CRTAC1_ENST00000370597.3_Silent_p.C605C|CRTAC1_ENST00000370591.2_Silent_p.C605C	p.A591V			Q9NQ79	CRAC1_HUMAN		Epithelial(162;2.18e-10)|all cancers(201;3.27e-09)	13	2127	-		Colorectal(252;0.24)	0			EGF-like.		B1ALN4|Q5T4F8|Q8N4H6|Q8TE52|Q9NQ78|Q9NQ80|Q9NW46	Missense_Mutation	SNP	ENST00000370597.3	37	c.1772C>T	CCDS31266.1	.	.	.	.	.	.	.	.	.	.	A	8.995	0.978680	0.18812	.	.	ENSG00000095713	ENST00000413387;ENST00000298819	T;T	0.35605	1.3;1.33	4.56	-2.11	0.07187	.	.	.	.	.	T	0.29355	0.0731	.	.	.	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.11299	-1.0593	8	0.87932	D	0	-11.2329	12.8464	0.57831	0.4649:0.0:0.5351:0.0	.	487	Q5T4F6	.	V	487;591	ENSP00000408445:A487V;ENSP00000298819:A591V	ENSP00000298819:A591V	A	-	2	0	CRTAC1	99630000	0.992000	0.36948	0.988000	0.46212	0.450000	0.32258	0.426000	0.21363	-0.594000	0.05836	-1.455000	0.01032	GCG		0.602	CRTAC1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000049754.1	NM_018058		31	34	0	0	0	1	0	31	34					A	99640010	G	A	99640010	2	1	435	1	0	0	0	0	0	0	0	1	3896	1079	38	1		1	CRTAC1	10	99640010	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	112404	99640010	35894737	4811	25736											
CRTAC1	55118	broad.mit.edu	37	chr10	99696033	99696033	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccctgccggtcccgcagcgcGtagtagggtgagctgcgctc	4	7	15	15	5	0	1	0	1	0	0	2	1	1	1	3	2	4	5	3	2	2	2	rs571436527		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:99696033G>A	ENST00000370597.3	-	3	670	c.315C>T	c.(313-315)taC>taT	p.Y105Y	CRTAC1_ENST00000370591.2_Silent_p.Y105Y|CRTAC1_ENST00000298819.4_Silent_p.Y105Y	NM_018058.6	NP_060528.3	Q9NQ79	CRAC1_HUMAN	cartilage acidic protein 1	105						extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(6)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	35		Colorectal(252;0.24)		Epithelial(162;2.18e-10)|all cancers(201;3.27e-09)		CCCGCAGCGCGTAGTAGGGTG	0.622													G|||	1	0.000199681	0	0	5008	,	,		18623	0		0.001	False		,,,				2504	0					ENST00000370597.3																			0				autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(6)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	35						c.(313-315)taC>taT		cartilage acidic protein 1							66	54	58					10																	99696033		2203	4300	6503	SO:0001819	synonymous_variant	55118					proteinaceous extracellular matrix	calcium ion binding	g.chr10:99696033G>A	AJ276171	CCDS31266.1, CCDS55723.1	10q22	2007-12-03			ENSG00000095713	ENSG00000095713			14882	protein-coding gene	gene with protein product		606276				11139377	Standard	NM_018058		Approved	FLJ10320, CEP-68, ASPIC1	uc001kou.2	Q9NQ79	OTTHUMG00000018871	ENST00000370597.3:c.315C>T	10.37:g.99696033G>A						CRTAC1_ENST00000370591.2_Silent_p.Y105Y|CRTAC1_ENST00000298819.4_Silent_p.Y105Y	p.Y105Y	NM_018058.6	NP_060528.3	Q9NQ79	CRAC1_HUMAN		Epithelial(162;2.18e-10)|all cancers(201;3.27e-09)	3	670	-		Colorectal(252;0.24)	105					B1ALN4|Q5T4F8|Q8N4H6|Q8TE52|Q9NQ78|Q9NQ80|Q9NW46	Silent	SNP	ENST00000370597.3	37	c.315C>T	CCDS31266.1																																																																																				0.622	CRTAC1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000049754.1	NM_018058		11	24	0	0	0	1	0	11	24					A	99696033	G	A	99696033	2	1	435	1	0	0	0	0	0	0	0	1	3896	1140	40	1		1	CRTAC1	10	99696033	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	56023	99696033	35838714	4812	25737											
C10orf28	27291	broad.mit.edu	37	chr10	99969296	99969296	+	Frame_Shift_Del	DEL	A	A	-																															tgtgcttcctccttacctatAaaaaagattgctggtagtaa																										TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:99969296delA	ENST00000298999.3	+	5	1728	c.1425delA	c.(1423-1425)atafs	p.I475fs	R3HCC1L_ENST00000370584.3_Frame_Shift_Del_p.I475fs|R3HCC1L_ENST00000370586.2_Intron|R3HCC1L_ENST00000314594.5_5'UTR	NM_014472.4	NP_055287	Q7Z5L2	R3HCL_HUMAN	R3H domain and coiled-coil containing 1-like	475							nucleotide binding (GO:0000166)										CCTTACCTATAAAAAAGATTG	0.378																																						ENST00000298999.3																			0											c.(1423-1425)atfs		R3H domain and coiled-coil containing 1-like							56	57	57					10																	99969296		2203	4300	6503	SO:0001589	frameshift_variant	27291							g.chr10:99969296delA	AF525304	CCDS31267.1, CCDS58093.1, CCDS73178.1	10q24.2	2012-05-23	2012-05-23	2012-05-23	ENSG00000166024	ENSG00000166024			23512	protein-coding gene	gene with protein product			"chromosome 10 open reading frame 28"	C10orf28			Standard	NM_014472		Approved	GIDRP86, PSORT	uc001kox.4	Q7Z5L2	OTTHUMG00000018873	ENST00000298999.3:c.1425delA	10.37:g.99969296delA	ENSP00000298999:p.Ile475fs					R3HCC1L_ENST00000314594.5_5'UTR|R3HCC1L_ENST00000370584.3_Frame_Shift_Del_p.I475fs|R3HCC1L_ENST00000370586.2_Intron	p.I475fs	NM_014472.4	NP_055287.4					5	1728	+								O60598|Q5W0B4|Q5W0B5|Q86VT9|Q8N9H0	Frame_Shift_Del	DEL	ENST00000298999.3	37	c.1425delA	CCDS31267.1																																																																																				0.378	R3HCC1L-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049764.1	NM_014472		16	44						16	44	---	---	---	---	-	99969296	A	-	99969296	7	5	435	1	0	1	0	1	0	0	0	0	1601	352	13	0	1427	0	C10orf28	10	99969296	Frame_Shift_Del	DEL	A	TCGA-XK-AAIW-01A-11D-A41K-08	273263	99969296	35565451	4813	25738											
PYROXD2	84795	broad.mit.edu	37	chr10	100144810	100144810	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agctggtccagggacatggcGcagtggaatatgttctgcag	9	9	15	8	1	1	0	0	0	1	0	2	2	2	2	1	4	2	4	1	4	2	2	rs552656159		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:100144810G>A	ENST00000370575.4	-	15	1617	c.1569C>T	c.(1567-1569)tgC>tgT	p.C523C	PYROXD2_ENST00000483923.1_5'UTR	NM_032709.2	NP_116098.2	Q8N2H3	PYRD2_HUMAN	pyridine nucleotide-disulphide oxidoreductase domain 2	523							oxidoreductase activity (GO:0016491)			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	12						GGGACATGGCGCAGTGGAATA	0.607																																						ENST00000370575.4																			0				central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	12						c.(1567-1569)tgC>tgT		pyridine nucleotide-disulphide oxidoreductase domain 2							85	79	81					10																	100144810		2203	4300	6503	SO:0001819	synonymous_variant	84795						oxidoreductase activity	g.chr10:100144810G>A	AK074429	CCDS7474.1	10q24.2	2009-04-22	2009-04-22	2009-04-22	ENSG00000119943	ENSG00000119943			23517	protein-coding gene	gene with protein product			"chromosome 10 open reading frame 33"	C10orf33			Standard	NM_032709		Approved	FLJ23849	uc001kpc.3	Q8N2H3	OTTHUMG00000018877	ENST00000370575.4:c.1569C>T	10.37:g.100144810G>A						PYROXD2_ENST00000483923.1_5'UTR	p.C523C	NM_032709.2	NP_116098.2	Q8N2H3	PYRD2_HUMAN			15	1617	-			523					D3DR61|Q5TAA9|Q9BRQ1	Silent	SNP	ENST00000370575.4	37	c.1569C>T	CCDS7474.1																																																																																				0.607	PYROXD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049782.2	NM_032709		12	25	0	0	0	1	0	12	25					A	100144810	G	A	100144810	2	1	435	1	0	0	0	0	0	0	0	1	12867	1079	38	1		1	PYROXD2	10	100144810	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	175514	100144810	35389937	4814	25739											
GOT1	2805	broad.mit.edu	37	chr10	101162417	101162417	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gggttttgagggcttctagtCgtgccctgagttcagatctc	5	14	13	9	1	3	3	1	2	2	1	5	3	3	3	1	2	1	3	1	2	1	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:101162417C>T	ENST00000370508.5	-	8	1049	c.1022G>A	c.(1021-1023)cGa>cAa	p.R341Q	GOT1_ENST00000543866.1_Missense_Mutation_p.R320Q	NM_002079.2	NP_002070.1	P17174	AATC_HUMAN	glutamic-oxaloacetic transaminase 1, soluble	341					2-oxoglutarate metabolic process (GO:0006103)|aspartate biosynthetic process (GO:0006532)|aspartate catabolic process (GO:0006533)|aspartate metabolic process (GO:0006531)|carbohydrate metabolic process (GO:0005975)|cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to insulin stimulus (GO:0032869)|fatty acid homeostasis (GO:0055089)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glutamate catabolic process to 2-oxoglutarate (GO:0019551)|glutamate catabolic process to aspartate (GO:0019550)|glutamate metabolic process (GO:0006536)|glycerol biosynthetic process (GO:0006114)|L-methionine biosynthetic process from methylthioadenosine (GO:0019509)|oxaloacetate metabolic process (GO:0006107)|polyamine metabolic process (GO:0006595)|response to glucocorticoid (GO:0051384)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)	axon terminus (GO:0043679)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|nucleus (GO:0005634)	carboxylic acid binding (GO:0031406)|L-aspartate:2-oxoglutarate aminotransferase activity (GO:0004069)|L-cysteine:2-oxoglutarate aminotransferase activity (GO:0047801)|L-phenylalanine:2-oxoglutarate aminotransferase activity (GO:0080130)|phosphatidylserine decarboxylase activity (GO:0004609)|pyridoxal phosphate binding (GO:0030170)|transaminase activity (GO:0008483)			endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|prostate(2)	16		Ovarian(717;0.028)|Colorectal(252;0.234)		Epithelial(162;4.76e-10)|all cancers(201;3.84e-08)	L-Aspartic Acid(DB00128)|L-Cysteine(DB00151)	GGCTTCTAGTCGTGCCCTGAG	0.507																																					Melanoma(173;770 3544 21601)	ENST00000370508.5																			0				endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|prostate(2)	16						c.(1021-1023)cGa>cAa		glutamic-oxaloacetic transaminase 1, soluble	L-Aspartic Acid(DB00128)|L-Cysteine(DB00151)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)						167	127	140					10																	101162417		2203	4300	6503	SO:0001583	missense	2805				aspartate catabolic process|cellular response to insulin stimulus|gluconeogenesis|response to glucocorticoid stimulus	cytosol	L-aspartate:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding	g.chr10:101162417C>T	M37400	CCDS7479.1	10q24.1-q25.1	2013-05-29	2013-05-29		ENSG00000120053	ENSG00000120053	2.6.1.1		4432	protein-coding gene	gene with protein product	"aspartate aminotransferase 1", "aspartate transaminase 1"	138180	"glutamic-oxaloacetic transaminase 1, soluble (aspartate aminotransferase 1)"			1974457	Standard	NM_002079		Approved		uc001kpr.3	P17174	OTTHUMG00000018882	ENST00000370508.5:c.1022G>A	10.37:g.101162417C>T	ENSP00000359539:p.Arg341Gln					GOT1_ENST00000543866.1_Missense_Mutation_p.R320Q	p.R341Q	NM_002079.2	NP_002070.1	P17174	AATC_HUMAN		Epithelial(162;4.76e-10)|all cancers(201;3.84e-08)	8	1049	-		Ovarian(717;0.028)|Colorectal(252;0.234)	341					B2R6R7|B7Z7E9|Q5VW80	Missense_Mutation	SNP	ENST00000370508.5	37	c.1022G>A	CCDS7479.1	.	.	.	.	.	.	.	.	.	.	C	13.33	2.206208	0.39003	.	.	ENSG00000120053	ENST00000370508;ENST00000535447;ENST00000543866	D;D	0.97352	-4.35;-4.35	5.78	3.93	0.45458	Aminotransferase, class I/classII (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.123947	0.53938	N	0.000043	D	0.93074	0.7795	L	0.55834	1.745	0.44719	D	0.997715	P	0.45768	0.866	B	0.24701	0.055	D	0.90507	0.4478	10	0.44086	T	0.13	-5.8888	12.2239	0.54449	0.0:0.8624:0.0:0.1376	.	341	P17174	AATC_HUMAN	Q	341;294;320	ENSP00000359539:R341Q;ENSP00000445578:R320Q	ENSP00000359539:R341Q	R	-	2	0	GOT1	101152407	0.997000	0.39634	0.922000	0.36590	0.342000	0.28953	3.113000	0.50376	0.793000	0.33875	-0.140000	0.14226	CGA		0.507	GOT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049794.1	NM_002079		27	33	0	0	0	1	0	27	33					T	101162417	C	T	101162417	3	4	435	1	0	0	0	0	1	0	0	0	6579	884	31	2	227	2	GOT1	10	101162417	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	1017607	101162417	34372330	4815	25740											
COX15	1355	broad.mit.edu	37	chr10	101486888	101486888	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accagatgaacttgaattctGtcagtgtcatatcatgattc	12	14	7	8	0	4	4	3	3	1	1	5	4	4	4	1	0	1	0	1	0	3	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:101486888G>A	ENST00000016171.5	-	4	469	c.419C>T	c.(418-420)aCa>aTa	p.T140I	CUTC_ENST00000493385.1_Intron|COX15_ENST00000370483.5_Missense_Mutation_p.T140I			Q7KZN9	COX15_HUMAN	cytochrome c oxidase assembly homolog 15 (yeast)	140					cellular respiration (GO:0045333)|heme a biosynthetic process (GO:0006784)|heme biosynthetic process (GO:0006783)|hydrogen ion transmembrane transport (GO:1902600)|mitochondrial electron transport, cytochrome c to oxygen (GO:0006123)|oxidation-reduction process (GO:0055114)|porphyrin-containing compound metabolic process (GO:0006778)|respiratory chain complex IV assembly (GO:0008535)|respiratory gaseous exchange (GO:0007585)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain (GO:0005746)|mitochondrion (GO:0005739)	cytochrome-c oxidase activity (GO:0004129)|oxidoreductase activity, acting on the CH-CH group of donors (GO:0016627)			endometrium(1)|kidney(1)|large_intestine(4)|liver(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	13		Colorectal(252;0.234)		Epithelial(162;3.08e-10)|all cancers(201;2.43e-08)		CTTGAATTCTGTCAGTGTCAT	0.433																																						ENST00000370483.5																			0				endometrium(1)|kidney(1)|large_intestine(4)|liver(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	13						c.(418-420)aCa>aTa		cytochrome c oxidase assembly homolog 15 (yeast)							88	78	81					10																	101486888		2203	4300	6503	SO:0001583	missense	1355				heme a biosynthetic process|respiratory chain complex IV assembly|respiratory gaseous exchange	integral to membrane|mitochondrial respiratory chain	cytochrome-c oxidase activity	g.chr10:101486888G>A	AF044323	CCDS7481.1, CCDS7482.1	10q24	2014-09-17	2012-10-15		ENSG00000014919	ENSG00000014919		"Mitochondrial respiratory chain complex assembly factors"	2263	protein-coding gene	gene with protein product		603646	"COX15 (yeast) homolog, cytochrome c oxidase assembly protein", "COX15 homolog, cytochrome c oxidase assembly protein (yeast)"			9878253	Standard	NM_078470		Approved		uc001kqb.4	Q7KZN9	OTTHUMG00000018893	ENST00000016171.5:c.419C>T	10.37:g.101486888G>A	ENSP00000016171:p.Thr140Ile					CUTC_ENST00000493385.1_Intron|COX15_ENST00000016171.5_Missense_Mutation_p.T140I	p.T140I	NM_004376.5|NM_078470.4	NP_004367.2|NP_510870.1	Q7KZN9	COX15_HUMAN		Epithelial(162;3.08e-10)|all cancers(201;2.43e-08)	4	469	-		Colorectal(252;0.234)	140					A8K6I9|O60556|O75878|Q5TD00|Q5TD01|Q7Z3Q3|Q9NTN0	Missense_Mutation	SNP	ENST00000016171.5	37	c.419C>T	CCDS7482.1	.	.	.	.	.	.	.	.	.	.	G	14.43	2.531722	0.45073	.	.	ENSG00000014919	ENST00000370483;ENST00000016171	.	.	.	4.8	4.8	0.61643	.	0.301618	0.36268	N	0.002697	T	0.56659	0.2000	L	0.46157	1.445	0.36687	D	0.879386	B;B	0.19445	0.036;0.001	B;B	0.24848	0.056;0.021	T	0.61850	-0.6978	9	0.52906	T	0.07	-3.7185	13.4024	0.60891	0.0:0.0:0.8429:0.1571	.	140;140	Q7KZN9-2;Q7KZN9	.;COX15_HUMAN	I	140	.	ENSP00000016171:T140I	T	-	2	0	COX15	101476878	1.000000	0.71417	0.920000	0.36463	0.801000	0.45260	5.017000	0.64047	2.655000	0.90218	0.655000	0.94253	ACA		0.433	COX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049818.1	NP_510870		7	23	0	0	0	1	0	7	23					A	101486888	G	A	101486888	3	1	435	1	0	0	0	0	1	0	0	0	3764	1377	48	3	907	3	COX15	10	101486888	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	324471	101486888	34047859	4816	25741											
CUTC	51076	broad.mit.edu	37	chr10	101499521	101499521	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agaggggggaactacacccaGcatgggtaagtgtccatttt	11	9	13	8	0	0	1	0	0	0	1	1	2	1	2	2	4	3	2	2	4	3	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:101499521G>A	ENST00000370476.5	+	3	317	c.188G>A	c.(187-189)aGc>aAc	p.S63N	CUTC_ENST00000493385.1_3'UTR	NM_015960.2	NP_057044.2	Q9NTM9	CUTC_HUMAN	cutC copper transporter	63					copper ion homeostasis (GO:0055070)|copper ion transport (GO:0006825)|protein tetramerization (GO:0051262)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	copper ion binding (GO:0005507)			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14		Colorectal(252;0.234)		Epithelial(162;3e-10)|all cancers(201;2.37e-08)		ACTACACCCAGCATGGGTAAG	0.398																																						ENST00000370476.5																			0				breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14						c.(187-189)aGc>aAc		cutC copper transporter							120	120	120					10																	101499521		2203	4300	6503	SO:0001583	missense	51076				copper ion homeostasis|copper ion transport|protein tetramerization	cytoplasm|nucleus	copper ion binding	g.chr10:101499521G>A	AF132966	CCDS7483.1	10q24.31	2013-07-31	2013-07-31		ENSG00000119929	ENSG00000119929			24271	protein-coding gene	gene with protein product		610101	"cutC copper transporter homolog (E. coli)"			16182249	Standard	NM_015960		Approved	CGI-32	uc001kqd.4	Q9NTM9	OTTHUMG00000018889	ENST00000370476.5:c.188G>A	10.37:g.101499521G>A	ENSP00000359507:p.Ser63Asn					CUTC_ENST00000493385.1_3'UTR	p.S63N	NM_015960.2	NP_057044.2	Q9NTM9	CUTC_HUMAN		Epithelial(162;3e-10)|all cancers(201;2.37e-08)	3	317	+		Colorectal(252;0.234)	63					Q5TCZ8|Q9Y321	Missense_Mutation	SNP	ENST00000370476.5	37	c.188G>A	CCDS7483.1	.	.	.	.	.	.	.	.	.	.	G	24.1	4.496912	0.85069	.	.	ENSG00000119929	ENST00000370476	.	.	.	5.8	5.8	0.92144	Copper homeostasis CutC domain (2);	0.075901	0.85682	D	0.000000	D	0.85301	0.5665	M	0.92317	3.295	0.80722	D	1	D;P	0.64830	0.994;0.913	D;P	0.72075	0.976;0.728	D	0.87920	0.2703	9	0.66056	D	0.02	-2.5309	14.6241	0.68608	0.0:0.1452:0.8548:0.0	.	63;63	B4DYM2;Q9NTM9	.;CUTC_HUMAN	N	63	.	ENSP00000359507:S63N	S	+	2	0	CUTC	101489511	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.374000	0.73132	2.736000	0.93811	0.591000	0.81541	AGC		0.398	CUTC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049811.1	NM_015960		42	53	0	0	0	1	0	42	53					A	101499521	G	A	101499521	3	1	435	1	0	0	0	0	1	0	0	0	4063	971	34	3	198	3	CUTC	10	101499521	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	12633	101499521	34035226	4817	25742											
CUTC	51076	broad.mit.edu	37	chr10	101507076	101507076	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcttaaccttgggatttgaaCgcgtgttgaccagtggatgt	8	14	12	7	2	1	2	0	2	1	0	1	4	1	4	2	2	2	1	2	2	2	4	rs369267471		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:101507076C>T	ENST00000370476.5	+	6	631	c.502C>T	c.(502-504)Cgc>Tgc	p.R168C		NM_015960.2	NP_057044.2	Q9NTM9	CUTC_HUMAN	cutC copper transporter	168					copper ion homeostasis (GO:0055070)|copper ion transport (GO:0006825)|protein tetramerization (GO:0051262)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	copper ion binding (GO:0005507)			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14		Colorectal(252;0.234)		Epithelial(162;3e-10)|all cancers(201;2.37e-08)		GGGATTTGAACGCGTGTTGAC	0.428																																						ENST00000370476.5																			0				breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14						c.(502-504)Cgc>Tgc		cutC copper transporter		C	CYS/ARG	0,4406		0,0,2203	181	168	173		502	4.8	1	10		173	1,8599		0,1,4299	no	missense	CUTC	NM_015960.2	180	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	168/274	101507076	1,13005	2203	4300	6503	SO:0001583	missense	51076				copper ion homeostasis|copper ion transport|protein tetramerization	cytoplasm|nucleus	copper ion binding	g.chr10:101507076C>T	AF132966	CCDS7483.1	10q24.31	2013-07-31	2013-07-31		ENSG00000119929	ENSG00000119929			24271	protein-coding gene	gene with protein product		610101	"cutC copper transporter homolog (E. coli)"			16182249	Standard	NM_015960		Approved	CGI-32	uc001kqd.4	Q9NTM9	OTTHUMG00000018889	ENST00000370476.5:c.502C>T	10.37:g.101507076C>T	ENSP00000359507:p.Arg168Cys						p.R168C	NM_015960.2	NP_057044.2	Q9NTM9	CUTC_HUMAN		Epithelial(162;3e-10)|all cancers(201;2.37e-08)	6	631	+		Colorectal(252;0.234)	168					Q5TCZ8|Q9Y321	Missense_Mutation	SNP	ENST00000370476.5	37	c.502C>T	CCDS7483.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.095882	0.76870	0.0	1.16E-4	ENSG00000119929	ENST00000370476;ENST00000370472	.	.	.	5.75	4.85	0.62838	Copper homeostasis CutC domain (2);	0.000000	0.85682	D	0.000000	D	0.86171	0.5869	H	0.94698	3.57	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.89837	0.4000	9	0.87932	D	0	-6.997	13.9716	0.64245	0.2757:0.7243:0.0:0.0	.	168;168	B4DYM2;Q9NTM9	.;CUTC_HUMAN	C	168;105	.	ENSP00000359503:R105C	R	+	1	0	CUTC	101497066	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	1.959000	0.40412	1.424000	0.47217	0.563000	0.77884	CGC		0.428	CUTC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049811.1	NM_015960		26	59	0	0	0	1	0	26	59					T	101507076	C	T	101507076	3	4	435	1	0	0	0	0	1	0	0	0	4063	536	19	1	524	1	CUTC	10	101507076	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	7555	101507076	34027671	4818	25743											
ABCC2	1244	broad.mit.edu	37	chr10	101591866	101591866	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgacacaacacccacaggccGgattgtgaacaggtttgccg	11	7	11	12	2	0	2	0	2	0	0	0	3	0	3	3	3	3	1	3	3	2	2	rs145672804	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:101591866G>A	ENST00000370449.4	+	23	3349	c.3236G>A	c.(3235-3237)cGg>cAg	p.R1079Q		NM_000392.3	NP_000383	Q92887	MRP2_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 2	1079	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.				cellular chloride ion homeostasis (GO:0030644)|drug transmembrane transport (GO:0006855)|prostaglandin transport (GO:0015732)|response to arsenic-containing substance (GO:0046685)|response to estrogen (GO:0043627)|response to heat (GO:0009408)|response to methotrexate (GO:0031427)|response to oxidative stress (GO:0006979)|thyroid hormone transport (GO:0070327)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|intercellular canaliculus (GO:0046581)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)			NS(1)|breast(5)|endometrium(9)|kidney(2)|large_intestine(20)|liver(1)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	67		Colorectal(252;0.234)		Epithelial(162;2.77e-10)|all cancers(201;2.47e-08)	Adenosine triphosphate(DB00171)|Aminohippurate(DB00345)|Arsenic trioxide(DB01169)|Atorvastatin(DB01076)|Canagliflozin(DB08907)|Carbamazepine(DB00564)|Carboplatin(DB00958)|Cisplatin(DB00515)|Clotrimazole(DB00257)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dexamethasone(DB01234)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Eprosartan(DB00876)|Ethinyl Estradiol(DB00977)|Etoposide(DB00773)|Ezetimibe(DB00973)|Furosemide(DB00695)|Fusidic Acid(DB02703)|Gadoxetate(DB08884)|Glutathione(DB00143)|Glyburide(DB01016)|Indinavir(DB00224)|Indomethacin(DB00328)|Irinotecan(DB00762)|Ivermectin(DB00602)|Lamivudine(DB00709)|Leucovorin(DB00650)|Levetiracetam(DB01202)|Lomefloxacin(DB00978)|Lovastatin(DB00227)|Methotrexate(DB00563)|Mycophenolate mofetil(DB00688)|Nifedipine(DB01115)|Norgestimate(DB00957)|Ofloxacin(DB01165)|Olmesartan(DB00275)|Oxaliplatin(DB00526)|Paclitaxel(DB01229)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Pitavastatin(DB08860)|Pranlukast(DB01411)|Pravastatin(DB00175)|Probenecid(DB01032)|Quinidine(DB00908)|Reserpine(DB00206)|Rifampicin(DB01045)|Ritonavir(DB00503)|Saquinavir(DB01232)|Simvastatin(DB00641)|Sorafenib(DB00398)|Sparfloxacin(DB01208)|Spironolactone(DB00421)|Sulfasalazine(DB00795)|Sulfinpyrazone(DB01138)|Sunitinib(DB01268)|Tamoxifen(DB00675)|Telmisartan(DB00966)|Tenofovir(DB00300)|Tetrahydrofolic acid(DB00116)|Ursodeoxycholic acid(DB01586)|Vasopressin(DB00067)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)	CCCACAGGCCGGATTGTGAAC	0.443													G|||	3	0.000599042	0	0.0043	5008	,	,		19307	0		0	False		,,,				2504	0					ENST00000370449.4																			0				NS(1)|breast(5)|endometrium(9)|kidney(2)|large_intestine(20)|liver(1)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	67						c.(3235-3237)cGg>cAg		ATP-binding cassette, sub-family C (CFTR/MRP), member 2	Adenosine triphosphate(DB00171)|Norgestimate(DB00957)|Pravastatin(DB00175)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)		GLN/ARG	1,4405		0,1,2202	88	85	86		3236	5.8	1	10	dbSNP_134	86	7,8593	5.7+/-21.5	0,7,4293	yes	missense	ABCC2	NM_000392.3	43	0,8,6495	AA,AG,GG		0.0814,0.0227,0.0615	probably-damaging	1079/1546	101591866	8,12998	2203	4300	6503	SO:0001583	missense	1244					apical plasma membrane|integral to plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity	g.chr10:101591866G>A	U63970	CCDS7484.1	10q24	2012-03-14			ENSG00000023839	ENSG00000023839		"ATP binding cassette transporters / subfamily C"	53	protein-coding gene	gene with protein product		601107	"canalicular multispecific organic anion transporter 1"	CMOAT		8797578, 9284939	Standard	XM_006717630		Approved	DJS, MRP2, cMRP	uc001kqf.2	Q92887	OTTHUMG00000018895	ENST00000370449.4:c.3236G>A	10.37:g.101591866G>A	ENSP00000359478:p.Arg1079Gln						p.R1079Q	NM_000392.3	NP_000383.1	Q92887	MRP2_HUMAN		Epithelial(162;2.77e-10)|all cancers(201;2.47e-08)	23	3349	+		Colorectal(252;0.234)	1079			ABC transmembrane type-1 2.		B2RMT8|Q14022|Q5T2B1|Q92500|Q92798|Q99663|Q9UMS2	Missense_Mutation	SNP	ENST00000370449.4	37	c.3236G>A	CCDS7484.1	3	0.0013736263736263737	0	0.0	3	0.008287292817679558	0	0.0	0	0.0	G	28.7	4.943550	0.92593	2.27E-4	8.14E-4	ENSG00000023839	ENST00000370449	D	0.94897	-3.55	5.79	5.79	0.91817	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.000000	0.85682	D	0.000000	D	0.96648	0.8906	M	0.90082	3.085	0.80722	D	1	D	0.57257	0.979	P	0.59595	0.86	D	0.95671	0.8723	10	0.87932	D	0	-8.6615	20.0168	0.97479	0.0:0.0:1.0:0.0	.	1079	Q92887	MRP2_HUMAN	Q	1079	ENSP00000359478:R1079Q	ENSP00000359478:R1079Q	R	+	2	0	ABCC2	101581856	1.000000	0.71417	1.000000	0.80357	0.885000	0.51271	7.083000	0.76859	2.737000	0.93849	0.591000	0.81541	CGG		0.443	ABCC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049825.1	NM_000392		23	44	0	0	0	1	0	23	44					A	101591866	G	A	101591866	3	1	435	1	0	0	0	0	1	0	0	0	53	1116	39	2	3326	2	ABCC2	10	101591866	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	84790	101591866	33942881	4819	25744											
DNMBP	23268	broad.mit.edu	37	chr10	101636947	101636947	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cggatataattggagggaacGtagcccttcttcccgttaac	10	11	10	10	3	1	0	0	0	1	0	2	3	2	3	2	3	3	2	2	3	5	7	rs549141280		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:101636947G>A	ENST00000324109.4	-	17	4786	c.4695C>T	c.(4693-4695)taC>taT	p.Y1565Y	DNMBP_ENST00000540316.1_Silent_p.Y501Y|DNMBP_ENST00000342239.3_Silent_p.Y1589Y|DNMBP_ENST00000543621.1_Silent_p.Y811Y	NM_015221.2	NP_056036.1	Q6XZF7	DNMBP_HUMAN	dynamin binding protein	1565	SH3 6. {ECO:0000255|PROSITE- ProRule:PRU00192}.				intracellular signal transduction (GO:0035556)	cell junction (GO:0030054)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|synapse (GO:0045202)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			central_nervous_system(1)|cervix(4)|endometrium(9)|large_intestine(14)|lung(19)|ovary(5)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	61		Colorectal(252;0.234)		Epithelial(162;2.94e-10)|all cancers(201;3.15e-08)		TGGAGGGAACGTAGCCCTTCT	0.517													G|||	1	0.000199681	0	0	5008	,	,		18949	0.001		0	False		,,,				2504	0					ENST00000342239.3																			0				central_nervous_system(1)|cervix(4)|endometrium(9)|large_intestine(14)|lung(19)|ovary(5)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	61						c.(4765-4767)taC>taT		dynamin binding protein							206	158	174					10																	101636947		2203	4300	6503	SO:0001819	synonymous_variant	23268				intracellular signal transduction|regulation of Rho protein signal transduction	cell junction|cytoskeleton|Golgi stack|synapse	protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr10:101636947G>A	AL833283	CCDS7485.1	10q24.31	2012-07-24			ENSG00000107554	ENSG00000107554		"Rho guanine nucleotide exchange factors"	30373	protein-coding gene	gene with protein product	"scaffold protein TUBA"	611282				10231032, 14506234	Standard	NM_015221		Approved	KIAA1010, Tuba, ARHGEF36	uc001kqj.2	Q6XZF7	OTTHUMG00000018897	ENST00000324109.4:c.4695C>T	10.37:g.101636947G>A						DNMBP_ENST00000324109.4_Silent_p.Y1565Y|DNMBP_ENST00000543621.1_Silent_p.Y811Y|DNMBP_ENST00000540316.1_Silent_p.Y501Y	p.Y1589Y			Q6XZF7	DNMBP_HUMAN		Epithelial(162;2.94e-10)|all cancers(201;3.15e-08)	17	4858	-		Colorectal(252;0.234)	1565					Q8IVY3|Q9Y2L3	Silent	SNP	ENST00000324109.4	37	c.4767C>T	CCDS7485.1																																																																																				0.517	DNMBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049832.2	NM_015221		37	60	0	0	0	1	0	37	60					A	101636947	G	A	101636947	2	1	435	1	0	0	0	0	0	0	0	1	4674	1140	40	1		1	DNMBP	10	101636947	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	45081	101636947	33897800	4820	25745											
DNMBP	23268	broad.mit.edu	37	chr10	101636968	101636968	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tagcccttcttcccgttaacCtcagctaaccaccactctgt	8	12	4	17	1	3	0	1	0	2	0	4	0	4	0	5	0	4	2	5	0	3	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:101636968C>T	ENST00000324109.4	-	17	4765	c.4674G>A	c.(4672-4674)gaG>gaA	p.E1558E	DNMBP_ENST00000540316.1_Silent_p.E494E|DNMBP_ENST00000342239.3_Silent_p.E1582E|DNMBP_ENST00000543621.1_Silent_p.E804E	NM_015221.2	NP_056036.1	Q6XZF7	DNMBP_HUMAN	dynamin binding protein	1558	SH3 6. {ECO:0000255|PROSITE- ProRule:PRU00192}.				intracellular signal transduction (GO:0035556)	cell junction (GO:0030054)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|synapse (GO:0045202)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			central_nervous_system(1)|cervix(4)|endometrium(9)|large_intestine(14)|lung(19)|ovary(5)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	61		Colorectal(252;0.234)		Epithelial(162;2.94e-10)|all cancers(201;3.15e-08)		TCCCGTTAACCTCAGCTAACC	0.498																																						ENST00000342239.3																			0				central_nervous_system(1)|cervix(4)|endometrium(9)|large_intestine(14)|lung(19)|ovary(5)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	61						c.(4744-4746)gaG>gaA		dynamin binding protein							216	176	189					10																	101636968		2203	4300	6503	SO:0001819	synonymous_variant	23268				intracellular signal transduction|regulation of Rho protein signal transduction	cell junction|cytoskeleton|Golgi stack|synapse	protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr10:101636968C>T	AL833283	CCDS7485.1	10q24.31	2012-07-24			ENSG00000107554	ENSG00000107554		"Rho guanine nucleotide exchange factors"	30373	protein-coding gene	gene with protein product	"scaffold protein TUBA"	611282				10231032, 14506234	Standard	NM_015221		Approved	KIAA1010, Tuba, ARHGEF36	uc001kqj.2	Q6XZF7	OTTHUMG00000018897	ENST00000324109.4:c.4674G>A	10.37:g.101636968C>T						DNMBP_ENST00000324109.4_Silent_p.E1558E|DNMBP_ENST00000543621.1_Silent_p.E804E|DNMBP_ENST00000540316.1_Silent_p.E494E	p.E1582E			Q6XZF7	DNMBP_HUMAN		Epithelial(162;2.94e-10)|all cancers(201;3.15e-08)	17	4837	-		Colorectal(252;0.234)	1558					Q8IVY3|Q9Y2L3	Silent	SNP	ENST00000324109.4	37	c.4746G>A	CCDS7485.1																																																																																				0.498	DNMBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049832.2	NM_015221		41	63	0	0	0	1	0	41	63					T	101636968	C	T	101636968	2	4	435	1	0	0	0	0	0	0	0	1	4674	680	24	3		3	DNMBP	10	101636968	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	21	101636968	33897779	4821	25746											
DNMBP	23268	broad.mit.edu	37	chr10	101639889	101639889	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttggtcacattcttttggCggaggagatgcatcttgagg	7	13	13	8	1	3	2	1	1	2	1	3	4	3	3	1	5	1	1	1	5	0	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:101639889C>T	ENST00000324109.4	-	16	4318	c.4227G>A	c.(4225-4227)ccG>ccA	p.P1409P	DNMBP_ENST00000540316.1_Silent_p.P345P|DNMBP_ENST00000342239.3_Silent_p.P1433P|DNMBP_ENST00000543621.1_Silent_p.P655P	NM_015221.2	NP_056036.1	Q6XZF7	DNMBP_HUMAN	dynamin binding protein	1409	Ser-rich.				intracellular signal transduction (GO:0035556)	cell junction (GO:0030054)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|synapse (GO:0045202)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			central_nervous_system(1)|cervix(4)|endometrium(9)|large_intestine(14)|lung(19)|ovary(5)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	61		Colorectal(252;0.234)		Epithelial(162;2.94e-10)|all cancers(201;3.15e-08)		ATTCTTTTGGCGGAGGAGATG	0.547																																						ENST00000342239.3																			0				central_nervous_system(1)|cervix(4)|endometrium(9)|large_intestine(14)|lung(19)|ovary(5)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	61						c.(4297-4299)ccG>ccA		dynamin binding protein							189	186	187					10																	101639889		2203	4300	6503	SO:0001819	synonymous_variant	23268				intracellular signal transduction|regulation of Rho protein signal transduction	cell junction|cytoskeleton|Golgi stack|synapse	protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr10:101639889C>T	AL833283	CCDS7485.1	10q24.31	2012-07-24			ENSG00000107554	ENSG00000107554		"Rho guanine nucleotide exchange factors"	30373	protein-coding gene	gene with protein product	"scaffold protein TUBA"	611282				10231032, 14506234	Standard	NM_015221		Approved	KIAA1010, Tuba, ARHGEF36	uc001kqj.2	Q6XZF7	OTTHUMG00000018897	ENST00000324109.4:c.4227G>A	10.37:g.101639889C>T						DNMBP_ENST00000324109.4_Silent_p.P1409P|DNMBP_ENST00000543621.1_Silent_p.P655P|DNMBP_ENST00000540316.1_Silent_p.P345P	p.P1433P			Q6XZF7	DNMBP_HUMAN		Epithelial(162;2.94e-10)|all cancers(201;3.15e-08)	16	4390	-		Colorectal(252;0.234)	1409			Ser-rich.		Q8IVY3|Q9Y2L3	Silent	SNP	ENST00000324109.4	37	c.4299G>A	CCDS7485.1																																																																																				0.547	DNMBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049832.2	NM_015221		16	94	0	0	0	1	0	16	94					T	101639889	C	T	101639889	2	4	435	1	0	0	0	0	0	0	0	1	4674	755	27	1		1	DNMBP	10	101639889	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	2921	101639889	33894858	4822	25747											
DNMBP	23268	broad.mit.edu	37	chr10	101731785	101731785	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ccaaaattcatccaccactgCcagcacctcaataatatctc	14	9	2	16	0	3	0	2	0	1	0	5	0	4	0	5	0	2	1	5	0	5	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:101731785C>T	ENST00000324109.4	-	2	188	c.97G>A	c.(97-99)Gca>Aca	p.A33T	DNMBP_ENST00000342239.3_Missense_Mutation_p.A33T	NM_015221.2	NP_056036.1	Q6XZF7	DNMBP_HUMAN	dynamin binding protein	33	SH3 1. {ECO:0000255|PROSITE- ProRule:PRU00192}.				intracellular signal transduction (GO:0035556)	cell junction (GO:0030054)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|synapse (GO:0045202)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			central_nervous_system(1)|cervix(4)|endometrium(9)|large_intestine(14)|lung(19)|ovary(5)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	61		Colorectal(252;0.234)		Epithelial(162;2.94e-10)|all cancers(201;3.15e-08)		TCCACCACTGCCAGCACCTCA	0.463																																						ENST00000342239.3																			0				central_nervous_system(1)|cervix(4)|endometrium(9)|large_intestine(14)|lung(19)|ovary(5)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	61						c.(97-99)Gca>Aca		dynamin binding protein							174	184	180					10																	101731785		2203	4300	6503	SO:0001583	missense	23268				intracellular signal transduction|regulation of Rho protein signal transduction	cell junction|cytoskeleton|Golgi stack|synapse	protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr10:101731785C>T	AL833283	CCDS7485.1	10q24.31	2012-07-24			ENSG00000107554	ENSG00000107554		"Rho guanine nucleotide exchange factors"	30373	protein-coding gene	gene with protein product	"scaffold protein TUBA"	611282				10231032, 14506234	Standard	NM_015221		Approved	KIAA1010, Tuba, ARHGEF36	uc001kqj.2	Q6XZF7	OTTHUMG00000018897	ENST00000324109.4:c.97G>A	10.37:g.101731785C>T	ENSP00000315659:p.Ala33Thr					DNMBP_ENST00000324109.4_Missense_Mutation_p.A33T	p.A33T			Q6XZF7	DNMBP_HUMAN		Epithelial(162;2.94e-10)|all cancers(201;3.15e-08)	2	188	-		Colorectal(252;0.234)	33			SH3 1.		Q8IVY3|Q9Y2L3	Missense_Mutation	SNP	ENST00000324109.4	37	c.97G>A	CCDS7485.1	.	.	.	.	.	.	.	.	.	.	C	14.27	2.486775	0.44249	.	.	ENSG00000107554	ENST00000342239;ENST00000324109	T;T	0.49720	0.77;0.77	4.76	3.85	0.44370	Src homology-3 domain (4);	0.000000	0.47093	D	0.000249	T	0.26557	0.0649	N	0.05487	-0.04	0.80722	D	1	B	0.17465	0.022	B	0.17433	0.018	T	0.05582	-1.0876	10	0.39692	T	0.17	-15.2735	9.7592	0.40522	0.0:0.8408:0.0:0.1592	.	33	Q6XZF7	DNMBP_HUMAN	T	33	ENSP00000344914:A33T;ENSP00000315659:A33T	ENSP00000315659:A33T	A	-	1	0	DNMBP	101721775	1.000000	0.71417	0.998000	0.56505	0.977000	0.68977	1.852000	0.39348	1.203000	0.43233	0.555000	0.69702	GCA		0.463	DNMBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049832.2	NM_015221		71	119	0	0	0	1	0	71	119					T	101731785	C	T	101731785	3	4	435	1	0	0	0	0	1	0	0	0	4674	739	26	3	4700	3	DNMBP	10	101731785	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	91896	101731785	33802962	4823	25748											
PKD2L1	9033	broad.mit.edu	37	chr10	102056787	102056787	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgctgctgaggtagcgaaGccggtgaatgtggagctcca	9	8	16	8	2	0	2	0	2	0	0	1	5	1	3	2	3	5	4	2	3	3	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:102056787G>A	ENST00000318222.3	-	6	1517	c.1135C>T	c.(1135-1137)Ctt>Ttt	p.L379F	PKD2L1_ENST00000353274.3_Missense_Mutation_p.L379F|PKD2L1_ENST00000338519.3_Missense_Mutation_p.L304F	NM_001253837.1|NM_016112.2	NP_001240766.1|NP_057196.2	Q9P0L9	PK2L1_HUMAN	polycystic kidney disease 2-like 1	379					cation transport (GO:0006812)|cellular response to acidic pH (GO:0071468)|detection of chemical stimulus involved in sensory perception of sour taste (GO:0001581)|detection of mechanical stimulus (GO:0050982)|potassium ion transmembrane transport (GO:0071805)|protein homotrimerization (GO:0070207)|sensory perception of sour taste (GO:0050915)|smoothened signaling pathway (GO:0007224)|sodium ion transmembrane transport (GO:0035725)	calcium channel complex (GO:0034704)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nonmotile primary cilium (GO:0031513)|plasma membrane (GO:0005886)	alpha-actinin binding (GO:0051393)|calcium activated cation channel activity (GO:0005227)|calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-activated potassium channel activity (GO:0015269)|cation channel activity (GO:0005261)|cytoskeletal protein binding (GO:0008092)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|sodium channel activity (GO:0005272)|sour taste receptor activity (GO:0033040)			NS(2)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	43		Colorectal(252;0.117)		Epithelial(162;6.15e-10)|all cancers(201;5.14e-08)		AGGTAGCGAAGCCGGTGAATG	0.517																																						ENST00000318222.3																			0				NS(2)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	43						c.(1135-1137)Ctt>Ttt		polycystic kidney disease 2-like 1							118	105	109					10																	102056787		2203	4300	6503	SO:0001583	missense	9033				signal transduction	integral to membrane	calcium activated cation channel activity|calcium ion binding|cytoskeletal protein binding	g.chr10:102056787G>A	AF094827	CCDS7492.1	10q24.31	2011-12-16			ENSG00000107593	ENSG00000107593		"Voltage-gated ion channels / Transient receptor potential cation channels"	9011	protein-coding gene	gene with protein product	"transient receptor potential cation channel, subfamily P, member 3"	604532		PKD2L, PKDL		9878261, 9748274	Standard	NM_016112		Approved	PCL, TRPP3	uc001kqx.1	Q9P0L9	OTTHUMG00000018910	ENST00000318222.3:c.1135C>T	10.37:g.102056787G>A	ENSP00000325296:p.Leu379Phe					PKD2L1_ENST00000338519.3_Missense_Mutation_p.L304F|PKD2L1_ENST00000353274.3_Missense_Mutation_p.L379F	p.L379F	NM_001253837.1|NM_016112.2	NP_001240766.1|NP_057196.2	Q9P0L9	PK2L1_HUMAN		Epithelial(162;6.15e-10)|all cancers(201;5.14e-08)	6	1517	-		Colorectal(252;0.117)	379					O75972|Q5W039|Q9UP35|Q9UPA2	Missense_Mutation	SNP	ENST00000318222.3	37	c.1135C>T	CCDS7492.1	.	.	.	.	.	.	.	.	.	.	G	10.40	1.338599	0.24253	.	.	ENSG00000107593	ENST00000338519;ENST00000353274;ENST00000318222;ENST00000339977	D;D;D	0.97505	-4.41;-4.41;-4.41	4.71	1.77	0.24775	Polycystin cation channel, PKD1/PKD2 (1);	0.468359	0.22983	N	0.053299	D	0.90659	0.7070	N	0.26042	0.785	0.44432	D	0.997353	B;B	0.12013	0.005;0.003	B;B	0.18263	0.015;0.021	T	0.80856	-0.1195	10	0.09338	T	0.73	-3.8089	4.5989	0.12343	0.2887:0.0:0.5546:0.1567	.	332;379	Q1L4F0;Q9P0L9	.;PK2L1_HUMAN	F	304;379;379;377	ENSP00000345068:L304F;ENSP00000266049:L379F;ENSP00000325296:L379F	ENSP00000325296:L379F	L	-	1	0	PKD2L1	102046777	0.455000	0.25736	0.974000	0.42286	0.883000	0.51084	0.315000	0.19451	0.680000	0.31366	0.561000	0.74099	CTT		0.517	PKD2L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049863.2	NM_016112		19	19	0	0	0	1	0	19	19					A	102056787	G	A	102056787	3	1	435	1	0	0	0	0	1	0	0	0	11967	971	34	3	1326	3	PKD2L1	10	102056787	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	325002	102056787	33477960	4824	25749											
SCD	6319	broad.mit.edu	37	chr10	102116398	102116398	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgttcgttgccactttcttgCgatatgctgtggtgcttaat	5	18	10	8	2	1	0	0	0	1	0	2	1	1	0	1	1	4	4	1	1	2	6			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:102116398C>T	ENST00000370355.2	+	5	1138	c.757C>T	c.(757-759)Cga>Tga	p.R253*		NM_005063.4	NP_005054.3	O00767	ACOD_HUMAN	stearoyl-CoA desaturase (delta-9-desaturase)	253					fatty acid biosynthetic process (GO:0006633)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	iron ion binding (GO:0005506)|stearoyl-CoA 9-desaturase activity (GO:0004768)			endometrium(1)|large_intestine(3)|lung(5)	9		Colorectal(252;0.0323)		Epithelial(162;1.97e-10)|all cancers(201;1.73e-08)		CACTTTCTTGCGATATGCTGT	0.502																																					Colon(67;260 1459 9574 11663)	ENST00000370355.2																			0				endometrium(1)|large_intestine(3)|lung(5)	9						c.(757-759)Cga>Tga		stearoyl-CoA desaturase (delta-9-desaturase)							157	118	131					10																	102116398		2203	4300	6503	SO:0001587	stop_gained	6319				fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	iron ion binding|stearoyl-CoA 9-desaturase activity	g.chr10:102116398C>T	AF097514	CCDS7493.1	10q23-q24	2013-01-25			ENSG00000099194	ENSG00000099194	1.14.19.1	"Fatty acid desaturases"	10571	protein-coding gene	gene with protein product	"acyl-CoA desaturase", "fatty acid desaturase", "delta-9-desaturase"	604031	"stearoyl-CoA desaturase opposite strand"	SCDOS		7909540, 10229681	Standard	NM_005063		Approved	FADS5	uc001kqy.3	O00767	OTTHUMG00000018906	ENST00000370355.2:c.757C>T	10.37:g.102116398C>T	ENSP00000359380:p.Arg253*						p.R253*	NM_005063.4	NP_005054.3	O00767	ACOD_HUMAN		Epithelial(162;1.97e-10)|all cancers(201;1.73e-08)	5	1138	+		Colorectal(252;0.0323)	253					B2R5U0|D3DR68|Q16150|Q53GR9|Q5W037|Q5W038|Q6GSS4|Q96KF6|Q9BS07|Q9Y695	Nonsense_Mutation	SNP	ENST00000370355.2	37	c.757C>T	CCDS7493.1	.	.	.	.	.	.	.	.	.	.	C	37	6.317028	0.97467	.	.	ENSG00000099194	ENST00000370355	.	.	.	5.43	5.43	0.79202	.	0.000000	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-12.9704	19.2404	0.93879	0.0:1.0:0.0:0.0	.	.	.	.	X	253	.	.	R	+	1	2	SCD	102106388	1.000000	0.71417	0.214000	0.23707	0.070000	0.16714	1.950000	0.40323	2.529000	0.85273	0.561000	0.74099	CGA		0.502	SCD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049857.2	NM_005063		25	43	0	0	0	1	0	25	43					T	102116398	C	T	102116398	4	4	435	1	0	0	0	0	0	1	0	0	13886	760	27	1	775	1	SCD	10	102116398	Nonsense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	59611	102116398	33418349	4825	25750											
FAM178A	55719	broad.mit.edu	37	chr10	102683848	102683848	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gagagtccttccttgagaagCgtcctgatggaccacatcag	10	9	11	11	1	1	3	1	2	0	2	4	6	4	4	4	1	1	0	4	1	1	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:102683848C>T	ENST00000238961.4	+	5	1632	c.1090C>T	c.(1090-1092)Cgt>Tgt	p.R364C	FAM178A_ENST00000370269.3_Missense_Mutation_p.R364C|FAM178A_ENST00000370271.3_Missense_Mutation_p.R364C	NM_018121.3	NP_060591.3	Q8IX21	F178A_HUMAN	family with sequence similarity 178, member A	364						chromatin (GO:0000785)|extracellular space (GO:0005615)|nucleus (GO:0005634)											CCTTGAGAAGCGTCCTGATGG	0.393																																						ENST00000238961.3																			0											c.(1090-1092)Cgt>Tgt		family with sequence similarity 178, member A							58	59	59					10																	102683848		2203	4300	6503	SO:0001583	missense	0							g.chr10:102683848C>T	AF460991	CCDS7500.1, CCDS44470.1, CCDS65918.1	10q24.31	2008-07-18	2008-07-18	2008-07-18	ENSG00000119906	ENSG00000119906			17814	protein-coding gene	gene with protein product		610348	"chromosome 10 open reading frame 6"	C10orf6		12459258	Standard	NM_018121		Approved	FLJ10512, FLJ25012	uc001krs.3	Q8IX21	OTTHUMG00000018919	ENST00000238961.4:c.1090C>T	10.37:g.102683848C>T	ENSP00000238961:p.Arg364Cys					FAM178A_ENST00000370271.3_Missense_Mutation_p.R364C|FAM178A_ENST00000370269.3_Missense_Mutation_p.R364C	p.R364C	NM_018121.3	NP_060591.3	Q8IX21	F178A_HUMAN			5	1238	+			364					A8K950|B1AL17|Q5W0L8|Q6GMU6|Q9NPE8	Missense_Mutation	SNP	ENST00000238961.4	37	c.1090C>T	CCDS7500.1	.	.	.	.	.	.	.	.	.	.	C	16.23	3.063401	0.55432	.	.	ENSG00000119906	ENST00000370271;ENST00000238961;ENST00000370269	T;T;T	0.62364	0.03;0.69;0.67	5.37	4.4	0.53042	.	0.000000	0.56097	D	0.000034	T	0.62024	0.2394	L	0.27053	0.805	0.40747	D	0.982889	D;D;D;D	0.76494	0.999;0.994;0.997;0.999	P;P;P;P	0.59703	0.855;0.742;0.742;0.862	T	0.64580	-0.6374	10	0.72032	D	0.01	-7.8632	10.6552	0.45671	0.1906:0.8094:0.0:0.0	.	13;364;364;364	Q96LW0;Q8IX21;B1AL17;B1AL16	.;F178A_HUMAN;.;.	C	364	ENSP00000359294:R364C;ENSP00000238961:R364C;ENSP00000359292:R364C	ENSP00000238961:R364C	R	+	1	0	FAM178A	102673838	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	1.833000	0.39161	2.902000	0.99343	0.650000	0.86243	CGT		0.393	FAM178A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049897.3			26	36	0	0	0	1	0	26	36					T	102683848	C	T	102683848	3	4	435	1	0	0	0	0	1	0	0	0	5503	768	27	1	1108	1	FAM178A	10	102683848	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	567450	102683848	32850899	4826	25751											
FAM178A	55719	broad.mit.edu	37	chr10	102709874	102709874	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgtgcagatgaagccttcTgatttgttaaagaaaatggt	12	14	10	5	0	1	4	0	2	1	2	1	4	1	4	1	1	2	2	1	1	5	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:102709874T>C	ENST00000238961.4	+	16	3704	c.3162T>C	c.(3160-3162)tcT>tcC	p.S1054S	FAM178A_ENST00000370269.3_Silent_p.S1054S	NM_018121.3	NP_060591.3	Q8IX21	F178A_HUMAN	family with sequence similarity 178, member A	1054						chromatin (GO:0000785)|extracellular space (GO:0005615)|nucleus (GO:0005634)											TGAAGCCTTCTGATTTGTTAA	0.358																																						ENST00000238961.3																			0											c.(3160-3162)tcT>tcC		family with sequence similarity 178, member A							139	134	136					10																	102709874		2203	4300	6503	SO:0001819	synonymous_variant	0							g.chr10:102709874T>C	AF460991	CCDS7500.1, CCDS44470.1, CCDS65918.1	10q24.31	2008-07-18	2008-07-18	2008-07-18	ENSG00000119906	ENSG00000119906			17814	protein-coding gene	gene with protein product		610348	"chromosome 10 open reading frame 6"	C10orf6		12459258	Standard	NM_018121		Approved	FLJ10512, FLJ25012	uc001krs.3	Q8IX21	OTTHUMG00000018919	ENST00000238961.4:c.3162T>C	10.37:g.102709874T>C						FAM178A_ENST00000370269.3_Silent_p.S1054S	p.S1054S	NM_018121.3	NP_060591.3	Q8IX21	F178A_HUMAN			16	3310	+			1054					A8K950|B1AL17|Q5W0L8|Q6GMU6|Q9NPE8	Silent	SNP	ENST00000238961.4	37	c.3162T>C	CCDS7500.1																																																																																				0.358	FAM178A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049897.3			56	68	0	0	0	1	0	56	68					C	102709874	T	C	102709874	2	2	435	1	0	0	0	0	0	0	0	1	5503	1567	55	4		4	FAM178A	10	102709874	Silent	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	26026	102709874	32824873	4827	25752											
SEMA4G	57715	broad.mit.edu	37	chr10	102739701	102739701	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gaataccaggatggttcccgGcgctggggtcgctatgaggg	7	8	17	9	3	0	1	0	1	0	0	2	3	1	2	2	6	1	3	2	6	3	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:102739701G>A	ENST00000370250.4	+	9	1453	c.1080G>A	c.(1078-1080)cgG>cgA	p.R360R	MRPL43_ENST00000370242.4_Intron|SEMA4G_ENST00000210633.3_Silent_p.R360R|RP11-108L7.4_ENST00000447344.1_RNA|MRPL43_ENST00000318325.2_Intron|MRPL43_ENST00000370241.3_Intron|SEMA4G_ENST00000517724.1_Silent_p.R360R	NM_017893.3	NP_060363.2	Q9NTN9	SEM4G_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4G	360	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			breast(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		Colorectal(252;0.234)		Epithelial(162;3.71e-09)|all cancers(201;2.1e-07)		ATGGTTCCCGGCGCTGGGGTC	0.642																																						ENST00000210633.3																			0				breast(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						c.(1078-1080)cgG>cgA		sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4G							101	111	108					10																	102739701		2203	4300	6503	SO:0001819	synonymous_variant	57715				cell differentiation|nervous system development	integral to membrane	receptor activity	g.chr10:102739701G>A	AB046839	CCDS7501.1, CCDS55724.1	10q24.31	2013-01-11			ENSG00000095539	ENSG00000095539		"Semaphorins", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	10735	protein-coding gene	gene with protein product							Standard	NM_017893		Approved	FLJ20590, KIAA1619	uc001krw.2	Q9NTN9	OTTHUMG00000018922	ENST00000370250.4:c.1080G>A	10.37:g.102739701G>A						SEMA4G_ENST00000370250.4_Silent_p.R360R|MRPL43_ENST00000370241.3_Intron|MRPL43_ENST00000370242.4_Intron|MRPL43_ENST00000318325.2_Intron|SEMA4G_ENST00000517724.1_Silent_p.R360R	p.R360R			Q9NTN9	SEM4G_HUMAN		Epithelial(162;3.71e-09)|all cancers(201;2.1e-07)	9	1158	+		Colorectal(252;0.234)	360			Sema.		A1A5C6|A6NJY8|Q58EY1|Q9HCF3	Silent	SNP	ENST00000370250.4	37	c.1080G>A																																																																																					0.642	SEMA4G-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000049920.2			4	118	0	0	0	1	0	4	118					A	102739701	G	A	102739701	2	1	435	1	0	0	0	0	0	0	0	1	14036	1190	42	3		3	SEMA4G	10	102739701	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	29827	102739701	32795046	4828	25753											
SEMA4G	57715	broad.mit.edu	37	chr10	102740674	102740674	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatgactgcatcttggcccgAgacccctactgtggctggga	7	10	12	12	1	1	2	0	1	1	1	1	4	1	3	3	3	2	2	3	3	2	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:102740674A>G	ENST00000370250.4	+	12	1936	c.1563A>G	c.(1561-1563)cgA>cgG	p.R521R	MRPL43_ENST00000370242.4_Intron|SEMA4G_ENST00000210633.3_Silent_p.R521R|RP11-108L7.4_ENST00000447344.1_RNA|MRPL43_ENST00000318325.2_Intron|MRPL43_ENST00000370241.3_Intron|SEMA4G_ENST00000517724.1_Silent_p.R521R	NM_017893.3	NP_060363.2	Q9NTN9	SEM4G_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4G	521	PSI.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			breast(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		Colorectal(252;0.234)		Epithelial(162;3.71e-09)|all cancers(201;2.1e-07)		TCTTGGCCCGAGACCCCTACT	0.642																																						ENST00000210633.3																			0				breast(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						c.(1561-1563)cgA>cgG		sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4G							83	90	88					10																	102740674		2203	4300	6503	SO:0001819	synonymous_variant	57715				cell differentiation|nervous system development	integral to membrane	receptor activity	g.chr10:102740674A>G	AB046839	CCDS7501.1, CCDS55724.1	10q24.31	2013-01-11			ENSG00000095539	ENSG00000095539		"Semaphorins", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	10735	protein-coding gene	gene with protein product							Standard	NM_017893		Approved	FLJ20590, KIAA1619	uc001krw.2	Q9NTN9	OTTHUMG00000018922	ENST00000370250.4:c.1563A>G	10.37:g.102740674A>G						SEMA4G_ENST00000370250.4_Silent_p.R521R|MRPL43_ENST00000370241.3_Intron|MRPL43_ENST00000370242.4_Intron|MRPL43_ENST00000318325.2_Intron|RP11-108L7.4_ENST00000447344.1_RNA|SEMA4G_ENST00000517724.1_Silent_p.R521R	p.R521R			Q9NTN9	SEM4G_HUMAN		Epithelial(162;3.71e-09)|all cancers(201;2.1e-07)	12	1641	+		Colorectal(252;0.234)	521			PSI.		A1A5C6|A6NJY8|Q58EY1|Q9HCF3	Silent	SNP	ENST00000370250.4	37	c.1563A>G																																																																																					0.642	SEMA4G-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000049920.2			38	65	0	0	0	1	0	38	65					G	102740674	A	G	102740674	2	3	435	1	0	0	0	0	0	0	0	1	14036	291	11	4		4	SEMA4G	10	102740674	Silent	SNP	A	TCGA-XK-AAIW-01A-11D-A41K-08	973	102740674	32794073	4829	25754											
TLX1	3195	broad.mit.edu	37	chr10	102894092	102894092	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcgctcaaaatgaccgatgcGcaggtcaaaacctggttcca	12	7	10	12	3	2	1	2	1	0	0	3	2	3	1	3	2	2	3	3	2	4	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:102894092G>A	ENST00000370196.6	+	2	2771	c.729G>A	c.(727-729)gcG>gcA	p.A243A	RP11-31L23.3_ENST00000411459.1_RNA|TLX1_ENST00000467928.2_Silent_p.A243A			P31314	TLX1_HUMAN	T-cell leukemia homeobox 1	243					cell fate commitment (GO:0045165)|central nervous system development (GO:0007417)|neuron differentiation (GO:0030182)|organ formation (GO:0048645)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|spleen development (GO:0048536)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			breast(1)|upper_aerodigestive_tract(1)	2				Epithelial(162;6.35e-09)|all cancers(201;3.21e-07)		TGACCGATGCGCAGGTCAAAA	0.687			T	"TRB@, TRD@"	T-ALL																																	ENST00000370196.6				Dom	yes		10	10q24	3195	T	" T-cell leukemia, homeobox 1 (HOX11)"			L	"TRB@, TRD@"		T-ALL		0				breast(1)|upper_aerodigestive_tract(1)	2						c.(727-729)gcG>gcA		T-cell leukemia homeobox 1							23	24	24					10																	102894092		2195	4297	6492	SO:0001819	synonymous_variant	3195					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr10:102894092G>A	M62626	CCDS7510.1, CCDS55725.1	10q24.32	2011-06-20	2005-12-22	2002-05-31	ENSG00000107807	ENSG00000107807		"Homeoboxes / ANTP class : NKL subclass"	5056	protein-coding gene	gene with protein product	"Homeo box-11 (T-cell leukemia-3 associated breakpoint, homologous to Drosophila Notch)", "homeo box 11 (T-cell lymphoma 3-associated breakpoint)"	186770	"homeo box 11 (T-cell lymphoma 3-associated breakpoint)", "T-cell leukemia, homeobox 1"	TCL3, HOX11		1676542, 1973146	Standard	NM_005521		Approved		uc001ksw.3	P31314	OTTHUMG00000019341	ENST00000370196.6:c.729G>A	10.37:g.102894092G>A						TLX1_ENST00000467928.2_Silent_p.A243A	p.A243A			P31314	TLX1_HUMAN		Epithelial(162;6.35e-09)|all cancers(201;3.21e-07)	2	2771	+			243					A1L4G3|O75699|Q5VXP2|Q9HCA0|Q9UD59	Silent	SNP	ENST00000370196.6	37	c.729G>A	CCDS7510.1																																																																																				0.687	TLX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051193.3	NM_005521		9	8	0	0	0	1	0	9	8					A	102894092	G	A	102894092	2	1	435	1	0	0	0	0	0	0	0	1	15956	1074	38	1		1	TLX1	10	102894092	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	153418	102894092	32640655	4830	25755											
BTRC	8945	broad.mit.edu	37	chr10	103221813	103221813	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagagaagaattcacttagaCaggtatgaaattcagcctta	16	10	8	7	0	2	4	2	1	0	3	2	5	2	4	1	1	1	1	1	1	6	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:103221813C>T	ENST00000370187.3	+	3	350	c.232C>T	c.(232-234)Cag>Tag	p.Q78*	BTRC_ENST00000393441.4_Intron|BTRC_ENST00000408038.2_Nonsense_Mutation_p.Q42*	NM_033637.3	NP_378663.1	Q9Y297	FBW1A_HUMAN	beta-transducin repeat containing E3 ubiquitin protein ligase	78					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|branching involved in mammary gland duct morphogenesis (GO:0060444)|cellular response to organic cyclic compound (GO:0071407)|G2/M transition of mitotic cell cycle (GO:0000086)|mammary gland epithelial cell proliferation (GO:0033598)|mitotic cell cycle (GO:0000278)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of circadian rhythm (GO:0042753)|positive regulation of proteolysis (GO:0045862)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein dephosphorylation (GO:0006470)|protein destabilization (GO:0031648)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|regulation of cell cycle (GO:0051726)|regulation of circadian rhythm (GO:0042752)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of proteasomal protein catabolic process (GO:0061136)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|rhythmic process (GO:0048511)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|signal transduction (GO:0007165)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|nucleus (GO:0005634)|SCF ubiquitin ligase complex (GO:0019005)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			endometrium(4)|kidney(2)|large_intestine(6)|lung(11)|ovary(2)|stomach(1)|urinary_tract(1)	27		Colorectal(252;0.234)		Epithelial(162;1.05e-08)|all cancers(201;6.59e-07)		TTCACTTAGACAGGTATGAAA	0.373																																						ENST00000370187.3																			0				endometrium(4)|kidney(2)|large_intestine(6)|lung(11)|ovary(2)|stomach(1)|urinary_tract(1)	27						c.(232-234)Cag>Tag		beta-transducin repeat containing E3 ubiquitin protein ligase							84	89	87					10																	103221813		2203	4300	6503	SO:0001587	stop_gained	8945				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|positive regulation of proteolysis|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein destabilization|viral reproduction|Wnt receptor signaling pathway	cytosol|nucleus|SCF ubiquitin ligase complex		g.chr10:103221813C>T	Y14153	CCDS7511.1, CCDS7512.1, CCDS73183.1	10q24.32	2013-01-10	2012-02-23		ENSG00000166167	ENSG00000166167		"F-boxes / WD-40 domains", "WD repeat domain containing"	1144	protein-coding gene	gene with protein product		603482	"beta-transducin repeat containing"			9660940, 10331953, 18354483	Standard	NM_033637		Approved	bTrCP, betaTrCP, FBXW1A, Fwd1, beta-TrCP1, bTrCP1	uc001kta.4	Q9Y297	OTTHUMG00000018932	ENST00000370187.3:c.232C>T	10.37:g.103221813C>T	ENSP00000359206:p.Gln78*					BTRC_ENST00000408038.2_Nonsense_Mutation_p.Q42*|BTRC_ENST00000393441.4_Intron	p.Q78*	NM_033637.3	NP_378663.1	Q9Y297	FBW1A_HUMAN		Epithelial(162;1.05e-08)|all cancers(201;6.59e-07)	3	350	+		Colorectal(252;0.234)	78					B5MD49|Q5W141|Q5W142|Q9Y213	Nonsense_Mutation	SNP	ENST00000370187.3	37	c.232C>T	CCDS7512.1	.	.	.	.	.	.	.	.	.	.	C	33	5.226558	0.95173	.	.	ENSG00000166167	ENST00000370187;ENST00000408038;ENST00000370183	.	.	.	6.17	6.17	0.99709	.	0.000000	0.64402	D	0.000005	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.07482	T	0.82	-9.9955	20.8794	0.99867	0.0:1.0:0.0:0.0	.	.	.	.	X	78;42;60	.	ENSP00000359202:Q60X	Q	+	1	0	BTRC	103211803	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.664000	0.68045	2.941000	0.99782	0.655000	0.94253	CAG		0.373	BTRC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049936.1	NM_033637		17	25	0	0	0	1	0	17	25					T	103221813	C	T	103221813	4	4	435	1	0	0	0	0	0	1	0	0	1569	479	17	3	242	3	BTRC	10	103221813	Nonsense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	327721	103221813	32312934	4831	25756											
BTRC	8945	broad.mit.edu	37	chr10	103292116	103292116	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aattcactgccgaagtgaaaCaagcaaaggagtttactgtt	15	10	9	7	1	1	1	1	1	0	0	1	3	1	2	1	1	4	3	1	1	6	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:103292116C>T	ENST00000370187.3	+	8	1023	c.905C>T	c.(904-906)aCa>aTa	p.T302I	BTRC_ENST00000408038.2_Missense_Mutation_p.T266I|BTRC_ENST00000393441.4_Missense_Mutation_p.T261I	NM_033637.3	NP_378663.1	Q9Y297	FBW1A_HUMAN	beta-transducin repeat containing E3 ubiquitin protein ligase	302					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|branching involved in mammary gland duct morphogenesis (GO:0060444)|cellular response to organic cyclic compound (GO:0071407)|G2/M transition of mitotic cell cycle (GO:0000086)|mammary gland epithelial cell proliferation (GO:0033598)|mitotic cell cycle (GO:0000278)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of circadian rhythm (GO:0042753)|positive regulation of proteolysis (GO:0045862)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein dephosphorylation (GO:0006470)|protein destabilization (GO:0031648)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|regulation of cell cycle (GO:0051726)|regulation of circadian rhythm (GO:0042752)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of proteasomal protein catabolic process (GO:0061136)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|rhythmic process (GO:0048511)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|signal transduction (GO:0007165)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|nucleus (GO:0005634)|SCF ubiquitin ligase complex (GO:0019005)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			endometrium(4)|kidney(2)|large_intestine(6)|lung(11)|ovary(2)|stomach(1)|urinary_tract(1)	27		Colorectal(252;0.234)		Epithelial(162;1.05e-08)|all cancers(201;6.59e-07)		CGAAGTGAAACAAGCAAAGGA	0.398																																						ENST00000370187.3																			0				endometrium(4)|kidney(2)|large_intestine(6)|lung(11)|ovary(2)|stomach(1)|urinary_tract(1)	27						c.(904-906)aCa>aTa		beta-transducin repeat containing E3 ubiquitin protein ligase							148	148	148					10																	103292116		2203	4300	6503	SO:0001583	missense	8945				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|positive regulation of proteolysis|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein destabilization|viral reproduction|Wnt receptor signaling pathway	cytosol|nucleus|SCF ubiquitin ligase complex		g.chr10:103292116C>T	Y14153	CCDS7511.1, CCDS7512.1, CCDS73183.1	10q24.32	2013-01-10	2012-02-23		ENSG00000166167	ENSG00000166167		"F-boxes / WD-40 domains", "WD repeat domain containing"	1144	protein-coding gene	gene with protein product		603482	"beta-transducin repeat containing"			9660940, 10331953, 18354483	Standard	NM_033637		Approved	bTrCP, betaTrCP, FBXW1A, Fwd1, beta-TrCP1, bTrCP1	uc001kta.4	Q9Y297	OTTHUMG00000018932	ENST00000370187.3:c.905C>T	10.37:g.103292116C>T	ENSP00000359206:p.Thr302Ile					BTRC_ENST00000393441.4_Missense_Mutation_p.T261I|BTRC_ENST00000408038.2_Missense_Mutation_p.T266I	p.T302I	NM_033637.3	NP_378663.1	Q9Y297	FBW1A_HUMAN		Epithelial(162;1.05e-08)|all cancers(201;6.59e-07)	8	1023	+		Colorectal(252;0.234)	302					B5MD49|Q5W141|Q5W142|Q9Y213	Missense_Mutation	SNP	ENST00000370187.3	37	c.905C>T	CCDS7512.1	.	.	.	.	.	.	.	.	.	.	C	16.02	3.003092	0.54254	.	.	ENSG00000166167	ENST00000370187;ENST00000393441;ENST00000408038	T;T;T	0.35605	1.3;1.3;2.25	5.96	5.05	0.67936	WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.41834	0.1176	L	0.27053	0.805	0.50171	D	0.999855	P;P;P	0.49253	0.617;0.688;0.921	B;B;P	0.54140	0.232;0.265;0.743	T	0.39702	-0.9601	10	0.62326	D	0.03	-13.4427	16.6653	0.85252	0.1308:0.8692:0.0:0.0	.	276;266;302	B7Z3H4;Q9Y297-2;Q9Y297	.;.;FBW1A_HUMAN	I	302;261;266	ENSP00000359206:T302I;ENSP00000377088:T261I;ENSP00000385339:T266I	ENSP00000359206:T302I	T	+	2	0	BTRC	103282106	1.000000	0.71417	0.997000	0.53966	0.541000	0.35023	4.909000	0.63314	1.516000	0.48900	-0.169000	0.13324	ACA		0.398	BTRC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049936.1	NM_033637		41	46	0	0	0	1	0	41	46					T	103292116	C	T	103292116	3	4	435	1	0	0	0	0	1	0	0	0	1569	478	17	3	935	3	BTRC	10	103292116	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	70303	103292116	32242631	4832	25757											
NPM3	10360	broad.mit.edu	37	chr10	103541551	103541551	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcacagctcaacttcttccTcatcactgtcctcttcctct	6	14	4	17	0	6	0	3	0	3	0	9	0	9	0	3	1	2	2	3	1	1	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:103541551T>C	ENST00000370110.5	-	5	501	c.479A>G	c.(478-480)gAg>gGg	p.E160G	NPM3_ENST00000474993.1_5'UTR	NM_006993.2	NP_008924.1	O75607	NPM3_HUMAN	nucleophosmin/nucleoplasmin 3	160	Asp/Glu-rich (highly acidic).				rRNA processing (GO:0006364)|rRNA transcription (GO:0009303)	nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)			large_intestine(3)|lung(1)|skin(1)	5		Colorectal(252;0.122)		Epithelial(162;3.94e-09)|all cancers(201;2.13e-07)		AACTTCTTCCTCATCACTGTC	0.547											OREG0020469	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000370110.5																			0				large_intestine(3)|lung(1)|skin(1)	5						c.(478-480)gAg>gGg		nucleophosmin/nucleoplasmin 3							337	294	308					10																	103541551		2203	4300	6503	SO:0001583	missense	10360						nucleic acid binding	g.chr10:103541551T>C	AY049737	CCDS7519.1	10q24.31	2009-08-27	2009-08-27		ENSG00000107833	ENSG00000107833			7931	protein-coding gene	gene with protein product		606456				11722795	Standard	NM_006993		Approved		uc001ktt.3	O75607	OTTHUMG00000018942	ENST00000370110.5:c.479A>G	10.37:g.103541551T>C	ENSP00000359128:p.Glu160Gly		OREG0020469	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1374	NPM3_ENST00000474993.1_5'UTR	p.E160G	NM_006993.2	NP_008924.1	O75607	NPM3_HUMAN		Epithelial(162;3.94e-09)|all cancers(201;2.13e-07)	5	501	-		Colorectal(252;0.122)	160			Asp/Glu-rich (highly acidic).		Q9UNY6	Missense_Mutation	SNP	ENST00000370110.5	37	c.479A>G	CCDS7519.1	.	.	.	.	.	.	.	.	.	.	T	10.40	1.340144	0.24339	.	.	ENSG00000107833	ENST00000370110	T	0.49720	0.77	5.23	4.09	0.47781	.	0.893863	0.09900	N	0.741193	T	0.41305	0.1153	L	0.48642	1.525	0.20489	N	0.999892	B	0.02656	0.0	B	0.01281	0.0	T	0.34079	-0.9843	10	0.54805	T	0.06	-9.0613	7.5885	0.28006	0.0:0.0948:0.0:0.9052	.	160	O75607	NPM3_HUMAN	G	160	ENSP00000359128:E160G	ENSP00000359128:E160G	E	-	2	0	NPM3	103531541	0.078000	0.21339	0.850000	0.33497	0.043000	0.13939	0.986000	0.29590	1.017000	0.39495	0.533000	0.62120	GAG		0.547	NPM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050003.2	NM_006993		13	98	0	0	0	1	0	13	98					C	103541551	T	C	103541551	3	2	435	1	0	0	0	0	1	0	0	0	10589	1551	54	4	61	4	NPM3	10	103541551	Missense_Mutation	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	249435	103541551	31993196	4833	25758											
PPRC1	23082	broad.mit.edu	37	chr10	103900822	103900822	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	aggtgccatcccaggagatgCcactgttggcgagaccttcc	8	8	12	13	1	0	2	0	0	0	2	2	4	2	2	5	3	2	1	5	3	0	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:103900822C>T	ENST00000278070.2	+	5	2596	c.2557C>T	c.(2557-2559)Cca>Tca	p.P853S	PPRC1_ENST00000370012.1_5'Flank|PPRC1_ENST00000413464.2_Missense_Mutation_p.P853S	NM_015062.3	NP_055877.3	Q5VV67	PPRC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator-related 1	853	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(10)|lung(19)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Colorectal(252;0.122)		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)		CCAGGAGATGCCACTGTTGGC	0.617																																						ENST00000278070.2																			0				central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(10)|lung(19)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56						c.(2557-2559)Cca>Tca		peroxisome proliferator-activated receptor gamma, coactivator-related 1							171	134	146					10																	103900822		2203	4300	6503	SO:0001583	missense	23082				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleotide binding|RNA binding	g.chr10:103900822C>T	AF325193	CCDS7529.1, CCDS73186.1	10q24.32	2013-02-12	2006-10-17		ENSG00000148840	ENSG00000148840		"RNA binding motif (RRM) containing"	30025	protein-coding gene	gene with protein product			"peroxisome proliferative activated receptor, gamma, coactivator-related 1"			9628581, 11340167	Standard	XM_005269656		Approved	PRC, KIAA0595, MGC74642	uc001kum.3	Q5VV67	OTTHUMG00000018948	ENST00000278070.2:c.2557C>T	10.37:g.103900822C>T	ENSP00000278070:p.Pro853Ser					PPRC1_ENST00000413464.2_Missense_Mutation_p.P853S	p.P853S	NM_015062.3	NP_055877.3	Q5VV67	PPRC1_HUMAN		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)	5	2596	+		Colorectal(252;0.122)	853			Pro-rich.		Q5VV66|Q6P3U5|Q6P3W1|Q76N31|Q9BUJ3|Q9BZE5|Q9Y4E0	Missense_Mutation	SNP	ENST00000278070.2	37	c.2557C>T	CCDS7529.1	.	.	.	.	.	.	.	.	.	.	C	13.63	2.294075	0.40594	.	.	ENSG00000148840	ENST00000278070;ENST00000413464	T;T	0.32272	1.6;1.46	5.38	4.46	0.54185	.	1.597240	0.03662	N	0.242786	T	0.29256	0.0728	L	0.27053	0.805	0.27962	N	0.936732	B;B;B	0.21821	0.036;0.061;0.036	B;B;B	0.23419	0.021;0.046;0.021	T	0.30822	-0.9965	10	0.30078	T	0.28	.	13.613	0.62091	0.0:0.9223:0.0:0.0777	.	853;733;853	E7EVG6;Q5VV67-2;Q5VV67	.;.;PPRC1_HUMAN	S	853	ENSP00000278070:P853S;ENSP00000399743:P853S	ENSP00000278070:P853S	P	+	1	0	PPRC1	103890812	0.002000	0.14202	0.747000	0.31113	0.331000	0.28603	0.886000	0.28241	1.369000	0.46134	0.561000	0.74099	CCA		0.617	PPRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050021.1	NM_015062		19	22	0	0	0	1	0	19	22					T	103900822	C	T	103900822	3	4	435	1	0	0	0	0	1	0	0	0	12410	739	26	3	2575	3	PPRC1	10	103900822	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	359271	103900822	31633925	4834	25759											
PPRC1	23082	broad.mit.edu	37	chr10	103908197	103908197	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttcgtcatcatcttcctcttCgtcttcctcatcctcatcat	5	18	2	16	2	8	0	5	0	3	0	13	0	11	0	3	0	0	0	3	0	0	4	rs201734122		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:103908197C>T	ENST00000278070.2	+	10	4508	c.4469C>T	c.(4468-4470)tCg>tTg	p.S1490L	PPRC1_ENST00000370012.1_Missense_Mutation_p.S457L|PPRC1_ENST00000489648.1_3'UTR|PPRC1_ENST00000413464.2_Missense_Mutation_p.S1226L	NM_015062.3	NP_055877.3	Q5VV67	PPRC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator-related 1	1490	Arg-rich.|Ser-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(10)|lung(19)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Colorectal(252;0.122)		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)		tcttcctcttcgtcttcctca	0.557													C|||	1	0.000199681	0	0	5008	,	,		20006	0.001		0	False		,,,				2504	0					ENST00000278070.2																			0				central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(10)|lung(19)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56						c.(4468-4470)tCg>tTg		peroxisome proliferator-activated receptor gamma, coactivator-related 1							196	137	157					10																	103908197		2203	4300	6503	SO:0001583	missense	23082				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleotide binding|RNA binding	g.chr10:103908197C>T	AF325193	CCDS7529.1, CCDS73186.1	10q24.32	2013-02-12	2006-10-17		ENSG00000148840	ENSG00000148840		"RNA binding motif (RRM) containing"	30025	protein-coding gene	gene with protein product			"peroxisome proliferative activated receptor, gamma, coactivator-related 1"			9628581, 11340167	Standard	XM_005269656		Approved	PRC, KIAA0595, MGC74642	uc001kum.3	Q5VV67	OTTHUMG00000018948	ENST00000278070.2:c.4469C>T	10.37:g.103908197C>T	ENSP00000278070:p.Ser1490Leu					PPRC1_ENST00000489648.1_3'UTR|PPRC1_ENST00000370012.1_Missense_Mutation_p.S457L|PPRC1_ENST00000413464.2_Missense_Mutation_p.S1226L	p.S1490L	NM_015062.3	NP_055877.3	Q5VV67	PPRC1_HUMAN		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)	10	4508	+		Colorectal(252;0.122)	1490			Arg-rich.|Ser-rich.		Q5VV66|Q6P3U5|Q6P3W1|Q76N31|Q9BUJ3|Q9BZE5|Q9Y4E0	Missense_Mutation	SNP	ENST00000278070.2	37	c.4469C>T	CCDS7529.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	c	9.131	1.011512	0.19277	.	.	ENSG00000148840	ENST00000278070;ENST00000413464;ENST00000370012	T;T;T	0.62788	-0.0;-0.0;-0.0	5.43	5.43	0.79202	.	0.384288	0.28834	N	0.013999	T	0.47395	0.1443	N	0.14661	0.345	0.35691	D	0.814864	D;D;D	0.59357	0.985;0.975;0.985	B;B;B	0.43331	0.416;0.396;0.416	T	0.59521	-0.7439	10	0.41790	T	0.15	.	14.2335	0.65908	0.0:0.851:0.149:0.0	.	1226;1370;1490	E7EVG6;Q5VV67-2;Q5VV67	.;.;PPRC1_HUMAN	L	1490;1226;457	ENSP00000278070:S1490L;ENSP00000399743:S1226L;ENSP00000359029:S457L	ENSP00000278070:S1490L	S	+	2	0	PPRC1	103898187	0.871000	0.30034	0.873000	0.34254	0.937000	0.57800	3.596000	0.54024	2.704000	0.92352	0.549000	0.68633	TCG		0.557	PPRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050021.1	NM_015062		23	33	0	0	0	1	0	23	33					T	103908197	C	T	103908197	3	4	435	1	0	0	0	0	1	0	0	0	12410	893	31	2	4507	2	PPRC1	10	103908197	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	7375	103908197	31626550	4835	25760											
GBF1	8729	broad.mit.edu	37	chr10	104128502	104128502	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gggtaacattacaggaagtgCgccatgatctccgcccacta	11	8	10	12	2	1	1	0	1	1	0	2	2	1	2	3	2	3	1	3	2	4	3	rs375347326		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:104128502C>T	ENST00000369983.3	+	23	3143	c.2883C>T	c.(2881-2883)tgC>tgT	p.C961C		NM_001199378.1|NM_001199379.1|NM_004193.2	NP_001186307.1|NP_001186308.1|NP_004184.1	Q92538	GBF1_HUMAN	golgi brefeldin A resistant guanine nucleotide exchange factor 1	961					COPI coating of Golgi vesicle (GO:0048205)|membrane organization (GO:0061024)|positive regulation of GTPase activity (GO:0043547)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of ARF protein signal transduction (GO:0032012)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|vesicle-mediated transport (GO:0016192)|viral process (GO:0016032)	cis-Golgi network (GO:0005801)|endoplasmic reticulum lumen (GO:0005788)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisome (GO:0005777)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(14)|kidney(8)|large_intestine(15)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	71		Colorectal(252;0.0236)		Epithelial(162;5.16e-08)|all cancers(201;1.19e-06)		ACAGGAAGTGCGCCATGATCT	0.537																																						ENST00000369983.3																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(14)|kidney(8)|large_intestine(15)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	71						c.(2881-2883)tgC>tgT		golgi brefeldin A resistant guanine nucleotide exchange factor 1		C	,,	0,4406		0,0,2203	136	120	125		2886,2883,2883	-2.2	1	10		125	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous,coding-synonymous,coding-synonymous	GBF1	NM_001199378.1,NM_001199379.1,NM_004193.2	,,	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	,,	962/1857,961/1856,961/1860	104128502	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	8729				COPI coating of Golgi vesicle|post-Golgi vesicle-mediated transport|regulation of ARF protein signal transduction|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane	ARF guanyl-nucleotide exchange factor activity|protein binding	g.chr10:104128502C>T	D87435	CCDS7533.1	10q24	2010-02-12	2010-02-12		ENSG00000107862	ENSG00000107862			4181	protein-coding gene	gene with protein product		603698	"golgi-specific brefeldin A resistance factor 1"			9828135	Standard	NM_004193		Approved	KIAA0248, ARF1GEF	uc001kux.2	Q92538	OTTHUMG00000018955	ENST00000369983.3:c.2883C>T	10.37:g.104128502C>T							p.C961C	NM_001199378.1|NM_001199379.1|NM_004193.2	NP_001186307.1|NP_001186308.1|NP_004184.1	Q92538	GBF1_HUMAN		Epithelial(162;5.16e-08)|all cancers(201;1.19e-06)	23	3143	+		Colorectal(252;0.0236)	961					Q5VXX3|Q96CK6|Q96HZ3|Q9H473	Silent	SNP	ENST00000369983.3	37	c.2883C>T	CCDS7533.1																																																																																				0.537	GBF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050051.1			16	31	0	0	0	1	0	16	31					T	104128502	C	T	104128502	2	4	435	1	0	0	0	0	0	0	0	1	6271	776	27	1		1	GBF1	10	104128502	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	220305	104128502	31406245	4836	25761											
GBF1	8729	broad.mit.edu	37	chr10	104140354	104140354	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	agatgcacggggaggcggccCctcggccctctgggagatca	7	5	16	13	3	2	2	1	0	1	2	3	4	2	3	3	6	1	1	3	6	0	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:104140354C>T	ENST00000369983.3	+	38	5341	c.5081C>T	c.(5080-5082)cCc>cTc	p.P1694L		NM_001199378.1|NM_001199379.1|NM_004193.2	NP_001186307.1|NP_001186308.1|NP_004184.1	Q92538	GBF1_HUMAN	golgi brefeldin A resistant guanine nucleotide exchange factor 1	1694					COPI coating of Golgi vesicle (GO:0048205)|membrane organization (GO:0061024)|positive regulation of GTPase activity (GO:0043547)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of ARF protein signal transduction (GO:0032012)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|vesicle-mediated transport (GO:0016192)|viral process (GO:0016032)	cis-Golgi network (GO:0005801)|endoplasmic reticulum lumen (GO:0005788)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisome (GO:0005777)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(14)|kidney(8)|large_intestine(15)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	71		Colorectal(252;0.0236)		Epithelial(162;5.16e-08)|all cancers(201;1.19e-06)		GGAGGCGGCCCCTCGGCCCTC	0.577																																						ENST00000369983.3																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(14)|kidney(8)|large_intestine(15)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	71						c.(5080-5082)cCc>cTc		golgi brefeldin A resistant guanine nucleotide exchange factor 1							244	267	259					10																	104140354		2203	4300	6503	SO:0001583	missense	8729				COPI coating of Golgi vesicle|post-Golgi vesicle-mediated transport|regulation of ARF protein signal transduction|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane	ARF guanyl-nucleotide exchange factor activity|protein binding	g.chr10:104140354C>T	D87435	CCDS7533.1	10q24	2010-02-12	2010-02-12		ENSG00000107862	ENSG00000107862			4181	protein-coding gene	gene with protein product		603698	"golgi-specific brefeldin A resistance factor 1"			9828135	Standard	NM_004193		Approved	KIAA0248, ARF1GEF	uc001kux.2	Q92538	OTTHUMG00000018955	ENST00000369983.3:c.5081C>T	10.37:g.104140354C>T	ENSP00000359000:p.Pro1694Leu						p.P1694L	NM_001199378.1|NM_001199379.1|NM_004193.2	NP_001186307.1|NP_001186308.1|NP_004184.1	Q92538	GBF1_HUMAN		Epithelial(162;5.16e-08)|all cancers(201;1.19e-06)	38	5341	+		Colorectal(252;0.0236)	1694					Q5VXX3|Q96CK6|Q96HZ3|Q9H473	Missense_Mutation	SNP	ENST00000369983.3	37	c.5081C>T	CCDS7533.1	.	.	.	.	.	.	.	.	.	.	C	7.112	0.576128	0.13623	.	.	ENSG00000107862	ENST00000369983	T	0.10099	2.91	5.91	5.91	0.95273	.	0.113073	0.40728	N	0.001028	T	0.08670	0.0215	N	0.22421	0.69	0.52501	D	0.999958	B;B;B	0.13594	0.002;0.003;0.008	B;B;B	0.16722	0.004;0.006;0.016	T	0.28490	-1.0042	10	0.28530	T	0.3	-18.2824	13.2195	0.59879	0.2617:0.7383:0.0:0.0	.	1690;1690;1694	Q149P1;Q149P0;Q92538	.;.;GBF1_HUMAN	L	1694	ENSP00000359000:P1694L	ENSP00000359000:P1694L	P	+	2	0	GBF1	104130344	1.000000	0.71417	1.000000	0.80357	0.158000	0.22134	4.360000	0.59455	2.793000	0.96121	0.655000	0.94253	CCC		0.577	GBF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050051.1			85	136	0	0	0	1	0	85	136					T	104140354	C	T	104140354	3	4	435	1	0	0	0	0	1	0	0	0	6271	623	22	3	5227	3	GBF1	10	104140354	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	11852	104140354	31394393	4837	25762											
TMEM180	79847	broad.mit.edu	37	chr10	104235671	104235671	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttcacgctgcatgggagacGcctgcacatggtcaaggccc	8	7	13	13	2	2	1	2	0	0	1	2	2	2	1	2	3	2	4	2	3	1	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:104235671G>A	ENST00000238936.4	+	10	1721	c.1484G>A	c.(1483-1485)cGc>cAc	p.R495H	TMEM180_ENST00000366277.2_Missense_Mutation_p.R224H	NM_024789.3	NP_079065.2	Q14CX5	TM180_HUMAN	transmembrane protein 180	495						integral component of membrane (GO:0016021)				breast(3)|endometrium(2)|large_intestine(3)|lung(1)|ovary(3)|skin(1)	13		Colorectal(252;0.122)		Epithelial(162;3.93e-09)|all cancers(201;1.02e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)		CATGGGAGACGCCTGCACATG	0.607																																						ENST00000238936.4																			0				breast(3)|endometrium(2)|large_intestine(3)|lung(1)|ovary(3)|skin(1)	13						c.(1483-1485)cGc>cAc		transmembrane protein 180							38	32	34					10																	104235671		2203	4300	6503	SO:0001583	missense	79847					integral to membrane		g.chr10:104235671G>A	AK026182	CCDS7535.1	10q24.32	2011-02-09	2006-10-12	2006-10-12	ENSG00000138111	ENSG00000138111			26196	protein-coding gene	gene with protein product				C10orf77		12477932	Standard	XM_006717971		Approved	FLJ22529, bA18I14.8	uc001kvt.3	Q14CX5	OTTHUMG00000018961	ENST00000238936.4:c.1484G>A	10.37:g.104235671G>A	ENSP00000238936:p.Arg495His					TMEM180_ENST00000366277.2_Missense_Mutation_p.R224H	p.R495H	NM_024789.3	NP_079065.2	Q14CX5	TM180_HUMAN		Epithelial(162;3.93e-09)|all cancers(201;1.02e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)	10	1721	+		Colorectal(252;0.122)	495					Q6NWM8|Q6NWM9|Q6PEZ7|Q9H679	Missense_Mutation	SNP	ENST00000238936.4	37	c.1484G>A	CCDS7535.1	.	.	.	.	.	.	.	.	.	.	g	14.14	2.445109	0.43429	.	.	ENSG00000138111	ENST00000366277;ENST00000238936;ENST00000369930	.	.	.	4.82	3.89	0.44902	.	0.259259	0.42821	D	0.000645	T	0.50871	0.1641	L	0.41824	1.3	0.42608	D	0.993305	B	0.12013	0.005	B	0.08055	0.003	T	0.44283	-0.9338	9	0.26408	T	0.33	.	12.4269	0.55553	0.0858:0.0:0.9142:0.0	.	495	Q14CX5	TM180_HUMAN	H	224;495;224	.	ENSP00000238936:R495H	R	+	2	0	TMEM180	104225661	1.000000	0.71417	0.577000	0.28562	0.870000	0.49936	2.503000	0.45407	1.111000	0.41721	0.306000	0.20318	CGC		0.607	TMEM180-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050075.2	NM_024789		7	9	0	0	0	1	0	7	9					A	104235671	G	A	104235671	3	1	435	1	0	0	0	0	1	0	0	0	16096	1087	38	1	1514	1	TMEM180	10	104235671	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	95317	104235671	31299076	4838	25763											
ACTR1A	10121	broad.mit.edu	37	chr10	104242791	104242791	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aatggtgctgccatcaggcaGgtagtactgagctttctctg	8	12	12	9	0	2	1	1	1	1	0	3	1	2	1	1	3	4	5	1	3	3	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:104242791G>T	ENST00000369905.4	-	7	790	c.727C>A	c.(727-729)Ctg>Atg	p.L243M	ACTR1A_ENST00000545684.1_Missense_Mutation_p.L169M|ACTR1A_ENST00000487599.1_Missense_Mutation_p.L243M|ACTR1A_ENST00000446605.2_Missense_Mutation_p.L196M|RP11-18I14.11_ENST00000608017.1_RNA|ACTR1A_ENST00000470322.1_5'UTR	NM_005736.3	NP_005727.1	P61163	ACTZ_HUMAN	ARP1 actin-related protein 1 homolog A, centractin alpha (yeast)	243					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|vesicle-mediated transport (GO:0016192)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dynactin complex (GO:0005869)|extracellular vesicular exosome (GO:0070062)|microtubule associated complex (GO:0005875)	ATP binding (GO:0005524)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)	13		Colorectal(252;0.122)		Epithelial(162;5.34e-09)|all cancers(201;1.43e-07)|BRCA - Breast invasive adenocarcinoma(275;0.222)		CCATCAGGCAGGTAGTACTGA	0.532																																						ENST00000369905.4																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)	13						c.(727-729)Ctg>Atg		ARP1 actin-related protein 1 homolog A, centractin alpha (yeast)							259	228	239					10																	104242791		2203	4300	6503	SO:0001583	missense	10121				G2/M transition of mitotic cell cycle|vesicle-mediated transport	centrosome|cytosol|dynactin complex	ATP binding	g.chr10:104242791G>T	X82206	CCDS7536.1	10q24	2008-07-08	2001-11-28		ENSG00000138107	ENSG00000138107			167	protein-coding gene	gene with protein product		605143	"ARP1 (actin-related protein 1, yeast) homolog A (centractin alpha)"			1528266	Standard	NM_005736		Approved	ARP1	uc001kvv.3	P61163	OTTHUMG00000018956	ENST00000369905.4:c.727C>A	10.37:g.104242791G>T	ENSP00000358921:p.Leu243Met					ACTR1A_ENST00000446605.2_Missense_Mutation_p.L196M|ACTR1A_ENST00000545684.1_Missense_Mutation_p.L169M|ACTR1A_ENST00000470322.1_5'UTR|ACTR1A_ENST00000487599.1_Missense_Mutation_p.L243M	p.L243M	NM_005736.3	NP_005727.1	P61163	ACTZ_HUMAN		Epithelial(162;5.34e-09)|all cancers(201;1.43e-07)|BRCA - Breast invasive adenocarcinoma(275;0.222)	7	790	-		Colorectal(252;0.122)	243					B2R6B0|P42024	Missense_Mutation	SNP	ENST00000369905.4	37	c.727C>A	CCDS7536.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.333370	0.81801	.	.	ENSG00000138107	ENST00000369905;ENST00000545684;ENST00000446605	D;D;D	0.97303	-4.33;-4.33;-4.33	5.85	4.95	0.65309	.	0.000000	0.56097	D	0.000035	D	0.98185	0.9400	M	0.82923	2.615	0.80722	D	1	D	0.65815	0.995	D	0.80764	0.994	D	0.98745	1.0718	10	0.87932	D	0	.	10.9419	0.47278	0.1423:0.0:0.8577:0.0	.	243	P61163	ACTZ_HUMAN	M	243;169;196	ENSP00000358921:L243M;ENSP00000438890:L169M;ENSP00000406028:L196M	ENSP00000358921:L243M	L	-	1	2	ACTR1A	104232781	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.488000	0.66869	1.470000	0.48102	0.561000	0.74099	CTG		0.532	ACTR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050053.1			41	72	1	0	7.77372e-23	1	8.65221e-23	41	72					T	104242791	G	T	104242791	3	4	435	1	0	0	0	0	1	0	0	0	209	991	35	5	423	5	ACTR1A	10	104242791	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	7120	104242791	31291956	4839	25764											
TRIM8	81603	broad.mit.edu	37	chr10	104416970	104416970	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcgcaggagtactcacacccGctcccgcccacaccctccgt	7	6	7	21	4	1	0	1	0	0	0	4	1	3	1	5	1	1	3	5	1	1	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:104416970G>A	ENST00000302424.7	+	6	1637	c.1515G>A	c.(1513-1515)ccG>ccA	p.P505P		NM_030912.2	NP_112174.2	Q9BZR9	TRIM8_HUMAN	tripartite motif containing 8	505					innate immune response (GO:0045087)|negative regulation of viral entry into host cell (GO:0046597)|negative regulation of viral release from host cell (GO:1902187)|negative regulation of viral transcription (GO:0032897)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|PML body (GO:0016605)	identical protein binding (GO:0042802)|ligase activity (GO:0016874)|protein homodimerization activity (GO:0042803)|zinc ion binding (GO:0008270)			endometrium(4)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	15		Colorectal(252;0.122)		Epithelial(162;3.93e-09)|all cancers(201;1.02e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)		ACTCACACCCGCTCCCGCCCA	0.667																																						ENST00000302424.6																			0				endometrium(4)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	15						c.(1513-1515)ccG>ccA		tripartite motif containing 8							49	45	46					10																	104416970		2203	4300	6503	SO:0001819	synonymous_variant	81603					cytoplasm|PML body	ligase activity|protein homodimerization activity|zinc ion binding	g.chr10:104416970G>A	AF281046	CCDS31274.1	10q24.3	2013-01-09	2011-01-25	2002-06-14	ENSG00000171206	ENSG00000171206		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	15579	protein-coding gene	gene with protein product	"glioblastoma expressed ring finger protein"	606125	"ring finger protein 27", "tripartite motif-containing 8"	RNF27		11118312, 12163497	Standard	NM_030912		Approved	GERP	uc001kvz.2	Q9BZR9	OTTHUMG00000018964	ENST00000302424.7:c.1515G>A	10.37:g.104416970G>A							p.P505P	NM_030912.2	NP_112174.2	Q9BZR9	TRIM8_HUMAN		Epithelial(162;3.93e-09)|all cancers(201;1.02e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)	6	1637	+		Colorectal(252;0.122)	505					A6NI31|Q9C028	Silent	SNP	ENST00000302424.7	37	c.1515G>A	CCDS31274.1																																																																																				0.667	TRIM8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050084.3	NM_030912		7	12	0	0	0	1	0	7	12					A	104416970	G	A	104416970	2	1	435	1	0	0	0	0	0	0	0	1	16545	1074	38	1		1	TRIM8	10	104416970	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	174179	104416970	31117777	4840	25765											
CYP17A1	1586	broad.mit.edu	37	chr10	104595136	104595136	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttacggttgttggacgcgAtgtctagagttgcctttaga	7	14	12	8	3	1	2	0	0	1	2	1	4	1	3	2	2	2	3	2	2	3	7			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:104595136A>C	ENST00000369887.3	-	2	482	c.311T>G	c.(310-312)aTc>aGc	p.I104S	CYP17A1_ENST00000489268.1_5'UTR|CYP17A1-AS1_ENST00000369884.4_RNA	NM_000102.3	NP_000093.1	P05093	CP17A_HUMAN	cytochrome P450, family 17, subfamily A, polypeptide 1	104					adrenal gland development (GO:0030325)|androgen biosynthetic process (GO:0006702)|biphenyl metabolic process (GO:0018879)|cellular response to antibiotic (GO:0071236)|cellular response to gonadotropin stimulus (GO:0071371)|cellular response to lipopolysaccharide (GO:0071222)|dibenzo-p-dioxin metabolic process (GO:0018894)|glucocorticoid biosynthetic process (GO:0006704)|hippocampus development (GO:0021766)|hormone biosynthetic process (GO:0042446)|Leydig cell differentiation (GO:0033327)|ovulation (GO:0030728)|phenol-containing compound metabolic process (GO:0018958)|phthalate metabolic process (GO:0018963)|positive regulation of steroid hormone biosynthetic process (GO:0090031)|progesterone metabolic process (GO:0042448)|response to acetate (GO:0010034)|response to cAMP (GO:0051591)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to fungicide (GO:0060992)|response to herbicide (GO:0009635)|response to insecticide (GO:0017085)|response to ionizing radiation (GO:0010212)|response to methylmercury (GO:0051597)|response to nutrient levels (GO:0031667)|response to retinoic acid (GO:0032526)|response to steroid hormone (GO:0048545)|sex differentiation (GO:0007548)|small molecule metabolic process (GO:0044281)|steroid biosynthetic process (GO:0006694)|steroid metabolic process (GO:0008202)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	axon (GO:0030424)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)	17-alpha-hydroxyprogesterone aldolase activity (GO:0047442)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxygen binding (GO:0019825)|steroid 17-alpha-monooxygenase activity (GO:0004508)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	18		Colorectal(252;0.122)|all_hematologic(284;0.152)		Epithelial(162;3.93e-09)|all cancers(201;1.02e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)	Abiraterone(DB05812)|Aminophenazone(DB01424)|Dexamethasone(DB01234)|Metoclopramide(DB01233)|Progesterone(DB00396)	GTTGGACGCGATGTCTAGAGT	0.567											OREG0020487	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000369887.3																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	18						c.(310-312)aTc>aGc		cytochrome P450, family 17, subfamily A, polypeptide 1	NADH(DB00157)|Progesterone(DB00396)						161	122	135					10																	104595136		2203	4300	6503	SO:0001583	missense	1586				androgen biosynthetic process|glucocorticoid biosynthetic process|sex differentiation|xenobiotic metabolic process	endoplasmic reticulum membrane	electron carrier activity|heme binding|oxygen binding|steroid 17-alpha-monooxygenase activity	g.chr10:104595136A>C	M19489	CCDS7541.1	10q24.3	2010-05-04	2003-02-14	2003-02-28	ENSG00000148795	ENSG00000148795	1.14.99.9	"Cytochrome P450s"	2593	protein-coding gene	gene with protein product	"Steroid 17-alpha-monooxygenase"	609300	"cytochrome P450, subfamily XVII (steroid 17-alpha-hydroxylase), adrenal hyperplasia"	CYP17		1347802	Standard	NM_000102		Approved	P450C17, CPT7, S17AH	uc001kwg.3	P05093	OTTHUMG00000018969	ENST00000369887.3:c.311T>G	10.37:g.104595136A>C	ENSP00000358903:p.Ile104Ser		OREG0020487	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	172	CYP17A1_ENST00000489268.1_5'UTR	p.I104S	NM_000102.3	NP_000093.1	P05093	CP17A_HUMAN		Epithelial(162;3.93e-09)|all cancers(201;1.02e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)	2	482	-		Colorectal(252;0.122)|all_hematologic(284;0.152)	104					Q5TZV7	Missense_Mutation	SNP	ENST00000369887.3	37	c.311T>G	CCDS7541.1	.	.	.	.	.	.	.	.	.	.	A	18.80	3.701992	0.68501	.	.	ENSG00000148795	ENST00000369887	T	0.66995	-0.24	5.8	5.8	0.92144	.	0.259243	0.38959	N	0.001517	T	0.75838	0.3904	L	0.51422	1.61	0.43531	D	0.995812	D	0.57257	0.979	P	0.60473	0.875	T	0.78048	-0.2356	10	0.72032	D	0.01	.	15.8106	0.78561	1.0:0.0:0.0:0.0	.	104	P05093	CP17A_HUMAN	S	104	ENSP00000358903:I104S	ENSP00000358903:I104S	I	-	2	0	CYP17A1	104585126	1.000000	0.71417	0.522000	0.27862	0.022000	0.10575	8.548000	0.90669	2.217000	0.71921	0.379000	0.24179	ATC		0.567	CYP17A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050101.1	NM_000102		24	32	0	0	0	1	0	24	32					C	104595136	A	C	104595136	3	2	435	1	0	0	0	0	1	0	0	0	4147	333	12	5	1243	5	CYP17A1	10	104595136	Missense_Mutation	SNP	A	TCGA-XK-AAIW-01A-11D-A41K-08	178166	104595136	30939611	4841	25766											
CNNM2	54805	broad.mit.edu	37	chr10	104678884	104678884	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tggcgccgtcgggggcaaggGtggctcgggggtggccgggc	2	5	24	10	5	0	0	0	0	0	0	2	0	0	0	2	9	0	2	2	9	1	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:104678884G>A	ENST00000369878.4	+	1	835	c.647G>A	c.(646-648)gGt>gAt	p.G216D	CNNM2_ENST00000433628.2_Missense_Mutation_p.G216D|CNNM2_ENST00000369875.3_Missense_Mutation_p.G216D	NM_017649.4	NP_060119.3	Q9H8M5	CNNM2_HUMAN	cyclin and CBS domain divalent metal cation transport mediator 2	216					magnesium ion homeostasis (GO:0010960)|magnesium ion transport (GO:0015693)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)	adenyl nucleotide binding (GO:0030554)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|urinary_tract(1)	19		Colorectal(252;0.103)|all_hematologic(284;0.152)|Breast(234;0.198)		Epithelial(162;7.89e-09)|all cancers(201;1.82e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)		GGGGGCAAGGGTGGCTCGGGG	0.697																																						ENST00000369878.3																			0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|urinary_tract(1)	19						c.(646-648)gGt>gAt		cyclin M2							14	17	16					10																	104678884		2063	4174	6237	SO:0001583	missense	54805				ion transport	integral to membrane		g.chr10:104678884G>A	AF216962	CCDS7543.1, CCDS44474.1, CCDS44475.1	10q24.32	2014-08-08	2014-08-07		ENSG00000148842	ENSG00000148842			103	protein-coding gene	gene with protein product		607803	"cyclin M2"	ACDP2		21393841, 24699222	Standard	NM_017649		Approved		uc001kwm.3	Q9H8M5	OTTHUMG00000018976	ENST00000369878.4:c.647G>A	10.37:g.104678884G>A	ENSP00000358894:p.Gly216Asp					CNNM2_ENST00000457502.2_5'UTR|CNNM2_ENST00000369875.3_Missense_Mutation_p.G216D|CNNM2_ENST00000433628.2_Missense_Mutation_p.G216D	p.G216D	NM_017649.4	NP_060119.3	Q9H8M5	CNNM2_HUMAN		Epithelial(162;7.89e-09)|all cancers(201;1.82e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)	1	771	+		Colorectal(252;0.103)|all_hematologic(284;0.152)|Breast(234;0.198)	216					Q5T569|Q5T570|Q8WU59|Q9H952|Q9NRK5|Q9NXT4	Missense_Mutation	SNP	ENST00000369878.4	37	c.647G>A	CCDS44474.1	.	.	.	.	.	.	.	.	.	.	G	7.135	0.580573	0.13686	.	.	ENSG00000148842	ENST00000457502;ENST00000433628;ENST00000369875;ENST00000369878;ENST00000345419;ENST00000541201	T;T;T	0.76060	-0.75;-0.99;-0.75	4.1	3.2	0.36748	.	0.597033	0.17355	N	0.177268	T	0.52289	0.1725	N	0.08118	0	0.24342	N	0.994958	B;B;B	0.13594	0.0;0.008;0.0	B;B;B	0.12156	0.0;0.007;0.003	T	0.39461	-0.9613	10	0.28530	T	0.3	-19.1533	9.8674	0.41152	0.0972:0.0:0.9028:0.0	.	216;216;216	Q9H8M5-2;Q9H8M5;F5H1I3	.;CNNM2_HUMAN;.	D	216	ENSP00000392875:G216D;ENSP00000358891:G216D;ENSP00000358894:G216D	ENSP00000286899:G216D	G	+	2	0	CNNM2	104668874	0.659000	0.27411	0.992000	0.48379	0.142000	0.21351	0.000000	0.12993	0.936000	0.37367	-0.258000	0.10820	GGT		0.697	CNNM2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050113.3	NM_017649		12	15	0	0	0	1	0	12	15					A	104678884	G	A	104678884	3	1	435	1	0	0	0	0	1	0	0	0	3613	1261	44	3	649	3	CNNM2	10	104678884	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	83748	104678884	30855863	4842	25767											
CNNM2	54805	broad.mit.edu	37	chr10	104836887	104836887	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctcaacgaacagaactgtGtgacgcacagtaaggccaac	14	6	10	11	2	1	2	1	1	0	1	1	3	1	2	1	1	5	3	1	1	5	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:104836887G>C	ENST00000369878.4	+	8	2766	c.2578G>C	c.(2578-2580)Gtg>Ctg	p.V860L	CNNM2_ENST00000433628.2_Missense_Mutation_p.V838L	NM_017649.4	NP_060119.3	Q9H8M5	CNNM2_HUMAN	cyclin and CBS domain divalent metal cation transport mediator 2	860					magnesium ion homeostasis (GO:0010960)|magnesium ion transport (GO:0015693)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)	adenyl nucleotide binding (GO:0030554)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|urinary_tract(1)	19		Colorectal(252;0.103)|all_hematologic(284;0.152)|Breast(234;0.198)		Epithelial(162;7.89e-09)|all cancers(201;1.82e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)		ACAGAACTGTGTGACGCACAG	0.597																																						ENST00000369878.3																			0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|urinary_tract(1)	19						c.(2578-2580)Gtg>Ctg		cyclin M2							87	94	92					10																	104836887		2132	4237	6369	SO:0001583	missense	54805				ion transport	integral to membrane		g.chr10:104836887G>C	AF216962	CCDS7543.1, CCDS44474.1, CCDS44475.1	10q24.32	2014-08-08	2014-08-07		ENSG00000148842	ENSG00000148842			103	protein-coding gene	gene with protein product		607803	"cyclin M2"	ACDP2		21393841, 24699222	Standard	NM_017649		Approved		uc001kwm.3	Q9H8M5	OTTHUMG00000018976	ENST00000369878.4:c.2578G>C	10.37:g.104836887G>C	ENSP00000358894:p.Val860Leu					CNNM2_ENST00000457502.2_Missense_Mutation_p.V618L|CNNM2_ENST00000433628.2_Missense_Mutation_p.V838L	p.V860L	NM_017649.4	NP_060119.3	Q9H8M5	CNNM2_HUMAN		Epithelial(162;7.89e-09)|all cancers(201;1.82e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)	8	2702	+		Colorectal(252;0.103)|all_hematologic(284;0.152)|Breast(234;0.198)	860					Q5T569|Q5T570|Q8WU59|Q9H952|Q9NRK5|Q9NXT4	Missense_Mutation	SNP	ENST00000369878.4	37	c.2578G>C	CCDS44474.1	.	.	.	.	.	.	.	.	.	.	G	14.67	2.603366	0.46423	.	.	ENSG00000148842	ENST00000457502;ENST00000433628;ENST00000369878;ENST00000345419;ENST00000541201	T	0.71817	-0.6	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	T	0.70456	0.3226	N	0.12182	0.205	0.80722	D	1	D;D	0.61697	0.99;0.984	D;D	0.73380	0.98;0.956	T	0.64093	-0.6488	10	0.08179	T	0.78	.	19.7954	0.96478	0.0:0.0:1.0:0.0	.	838;860	Q9H8M5-2;Q9H8M5	.;CNNM2_HUMAN	L	861;839;860;838;559	ENSP00000358894:V860L	ENSP00000286899:V838L	V	+	1	0	CNNM2	104826877	1.000000	0.71417	0.986000	0.45419	0.992000	0.81027	7.265000	0.78442	2.677000	0.91161	0.555000	0.69702	GTG		0.597	CNNM2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050113.3	NM_017649		20	32	0	0	0	1	0	20	32					C	104836887	G	C	104836887	3	2	435	1	0	0	0	0	1	0	0	0	3613	1377	48	5	2650	5	CNNM2	10	104836887	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	158003	104836887	30697860	4843	25768											
NT5C2	22978	broad.mit.edu	37	chr10	104850752	104850752	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attgctactgctgtcaagatGcctaaagataaaagaaaaac	18	9	7	7	0	1	3	1	0	0	3	1	3	1	3	1	0	5	2	1	0	8	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:104850752G>A	ENST00000404739.3	-	15	1236	c.1213C>T	c.(1213-1215)Cat>Tat	p.H405Y	NT5C2_ENST00000423468.2_Splice_Site_p.H376Y|NT5C2_ENST00000343289.5_Splice_Site_p.H405Y|NT5C2_ENST00000369857.4_5'UTR			P49902	5NTC_HUMAN	5'-nucleotidase, cytosolic II	405					cell death (GO:0008219)|dephosphorylation (GO:0016311)|drug metabolic process (GO:0017144)|nucleobase-containing small molecule metabolic process (GO:0055086)|phosphorylation (GO:0016310)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide catabolic process (GO:0006195)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	5'-nucleotidase activity (GO:0008253)|metal ion binding (GO:0046872)|nucleoside phosphotransferase activity (GO:0050146)|nucleotide binding (GO:0000166)			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|urinary_tract(1)	16		all_hematologic(284;0.176)|Colorectal(252;0.178)		Epithelial(162;1.33e-08)|all cancers(201;1.04e-07)|BRCA - Breast invasive adenocarcinoma(275;0.159)	Adenosine triphosphate(DB00171)|Ribavirin(DB00811)	CTGTCAAGATGCCTAAAGATA	0.408																																						ENST00000343289.5																			0				cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|urinary_tract(1)	16						c.e16-1		5'-nucleotidase, cytosolic II	Adenosine triphosphate(DB00171)|Ribavirin(DB00811)						78	79	78					10																	104850752		2203	4300	6503	SO:0001630	splice_region_variant	22978				purine base metabolic process|purine nucleotide catabolic process	cytosol	5'-nucleotidase activity|metal ion binding|nucleotide binding|protein binding	g.chr10:104850752G>A	D38524	CCDS7544.1	10q24.32	2014-03-03	2002-04-18	2002-04-19	ENSG00000076685	ENSG00000076685			8022	protein-coding gene	gene with protein product	"purine 5' nucleotidase"	600417	"5'-nucleotidase (purine), cytosolic type B"	NT5B		7999131, 24482476	Standard	NM_012229		Approved	PNT5, GMP, cN-II, SPG65	uc001kwq.3	P49902	OTTHUMG00000018981	ENST00000404739.3:c.1212-1C>T	10.37:g.104850752G>A						NT5C2_ENST00000423468.2_Splice_Site_p.H376_splice|NT5C2_ENST00000369857.4_5'UTR|NT5C2_ENST00000404739.3_Splice_Site_p.H405_splice	p.H405_splice	NM_001134373.2|NM_012229.4	NP_001127845.1|NP_036361.1	P49902	5NTC_HUMAN		Epithelial(162;1.33e-08)|all cancers(201;1.04e-07)|BRCA - Breast invasive adenocarcinoma(275;0.159)	16	1300	-		all_hematologic(284;0.176)|Colorectal(252;0.178)	405					B7Z382|D3DR91|Q5JUV5	Splice_Site	SNP	ENST00000404739.3	37	c.1211_splice	CCDS7544.1	.	.	.	.	.	.	.	.	.	.	G	18.01	3.527528	0.64860	.	.	ENSG00000076685	ENST00000343289;ENST00000404739;ENST00000423468;ENST00000421281	T;T;T;T	0.22945	1.93;1.93;1.93;1.93	6.06	6.06	0.98353	HAD-like domain (1);	0.000000	0.85682	D	0.000000	T	0.51550	0.1681	M	0.65498	2.005	0.58432	D	0.999995	D;D;D	0.89917	0.999;1.0;0.999	D;D;D	0.70716	0.946;0.97;0.946	T	0.25398	-1.0133	10	0.37606	T	0.19	-19.4642	20.6208	0.99490	0.0:0.0:1.0:0.0	.	376;252;405	B7Z382;B3KXN5;P49902	.;.;5NTC_HUMAN	Y	405;405;376;105	ENSP00000339479:H405Y;ENSP00000383960:H405Y;ENSP00000392236:H376Y;ENSP00000408112:H105Y	ENSP00000339479:H405Y	H	-	1	0	NT5C2	104840742	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	6.215000	0.72206	2.882000	0.98803	0.655000	0.94253	CAT		0.408	NT5C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050121.1	NM_012229	Missense_Mutation	6	38	0	0	0	1	0	6	38					A	104850752	G	A	104850752	5	1	435	1	0	0	0	0	0	0	1	0	10687	1333	46	3	484	3	NT5C2	10	104850752	Splice_Site	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	13865	104850752	30683995	4844	25769											
PDCD11	22984	broad.mit.edu	37	chr10	105185201	105185201	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tctagatgatgttccagaggGcacctctcctactaccaagc	10	10	8	13	0	2	3	0	1	2	2	4	3	3	3	4	1	3	2	4	1	4	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:105185201G>A	ENST00000369797.3	+	20	3318	c.3224G>A	c.(3223-3225)gGc>gAc	p.G1075D		NM_014976.1	NP_055791.1	Q14690	RRP5_HUMAN	programmed cell death 11	1075	S1 motif 9. {ECO:0000255|PROSITE- ProRule:PRU00180}.				mRNA processing (GO:0006397)|rRNA processing (GO:0006364)	cytosol (GO:0005829)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	64		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)		GTTCCAGAGGGCACCTCTCCT	0.517																																						ENST00000369797.3																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						c.(3223-3225)gGc>gAc		programmed cell death 11							115	99	104					10																	105185201		2203	4300	6503	SO:0001583	missense	22984				mRNA processing|rRNA processing	nucleolus	RNA binding|transcription factor binding	g.chr10:105185201G>A	D80007	CCDS31276.1	10q24.32	2010-07-06			ENSG00000148843	ENSG00000148843			13408	protein-coding gene	gene with protein product		612333				10229231	Standard	XM_005269647		Approved	KIAA0185, ALG-4, RRP5	uc001kwy.1	Q14690	OTTHUMG00000018988	ENST00000369797.3:c.3224G>A	10.37:g.105185201G>A	ENSP00000358812:p.Gly1075Asp						p.G1075D	NM_014976.1	NP_055791.1	Q14690	RRP5_HUMAN		Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)	20	3318	+		Colorectal(252;0.0747)|Breast(234;0.128)	1075			S1 motif 9.		Q2TA92|Q5W093|Q6P2J3|Q86VQ8|Q9H4P1	Missense_Mutation	SNP	ENST00000369797.3	37	c.3224G>A	CCDS31276.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.015268	0.75161	.	.	ENSG00000148843	ENST00000369797;ENST00000543503	T	0.42900	0.96	5.91	4.98	0.66077	Nucleic acid-binding, OB-fold-like (1);Nucleic acid-binding, OB-fold (1);RNA-binding domain, S1 (1);Ribosomal protein S1, RNA-binding domain (2);	0.095473	0.64402	D	0.000001	T	0.52837	0.1759	L	0.41961	1.31	0.58432	D	0.999999	D	0.89917	1.0	D	0.87578	0.998	T	0.37502	-0.9703	10	0.29301	T	0.29	-22.5258	11.6324	0.51183	0.066:0.0:0.8096:0.1244	.	1075	Q14690	RRP5_HUMAN	D	1075	ENSP00000358812:G1075D	ENSP00000358812:G1075D	G	+	2	0	PDCD11	105175191	1.000000	0.71417	0.928000	0.36995	0.713000	0.41058	4.863000	0.62983	2.804000	0.96469	0.462000	0.41574	GGC		0.517	PDCD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050151.1			28	30	0	0	0	1	0	28	30					A	105185201	G	A	105185201	3	1	435	1	0	0	0	0	1	0	0	0	11617	1203	42	3	3298	3	PDCD11	10	105185201	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	334449	105185201	30349546	4845	25770											
PDCD11	22984	broad.mit.edu	37	chr10	105201637	105201637	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgcagctgtcttcaggcttcGcttggaatgtgggactagac	7	12	13	9	1	2	1	1	0	1	1	3	3	2	3	0	3	2	4	0	3	2	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:105201637G>A	ENST00000369797.3	+	31	4706	c.4612G>A	c.(4612-4614)Gct>Act	p.A1538T		NM_014976.1	NP_055791.1	Q14690	RRP5_HUMAN	programmed cell death 11	1538					mRNA processing (GO:0006397)|rRNA processing (GO:0006364)	cytosol (GO:0005829)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	64		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)		TTCAGGCTTCGCTTGGAATGT	0.597																																						ENST00000369797.3																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						c.(4612-4614)Gct>Act		programmed cell death 11							48	54	52					10																	105201637		2203	4300	6503	SO:0001583	missense	22984				mRNA processing|rRNA processing	nucleolus	RNA binding|transcription factor binding	g.chr10:105201637G>A	D80007	CCDS31276.1	10q24.32	2010-07-06			ENSG00000148843	ENSG00000148843			13408	protein-coding gene	gene with protein product		612333				10229231	Standard	XM_005269647		Approved	KIAA0185, ALG-4, RRP5	uc001kwy.1	Q14690	OTTHUMG00000018988	ENST00000369797.3:c.4612G>A	10.37:g.105201637G>A	ENSP00000358812:p.Ala1538Thr						p.A1538T	NM_014976.1	NP_055791.1	Q14690	RRP5_HUMAN		Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)	31	4706	+		Colorectal(252;0.0747)|Breast(234;0.128)	1538					Q2TA92|Q5W093|Q6P2J3|Q86VQ8|Q9H4P1	Missense_Mutation	SNP	ENST00000369797.3	37	c.4612G>A	CCDS31276.1	.	.	.	.	.	.	.	.	.	.	G	7.105	0.574784	0.13623	.	.	ENSG00000148843	ENST00000369797;ENST00000543503	T	0.09255	3.0	5.5	-2.7	0.06004	.	0.818934	0.11741	N	0.534014	T	0.04137	0.0115	N	0.14661	0.345	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.43972	-0.9358	10	0.13470	T	0.59	0.7332	2.5405	0.04724	0.4766:0.211:0.2049:0.1075	.	1538	Q14690	RRP5_HUMAN	T	1538;1196	ENSP00000358812:A1538T	ENSP00000358812:A1538T	A	+	1	0	PDCD11	105191627	0.000000	0.05858	0.074000	0.20217	0.558000	0.35554	-0.597000	0.05713	-0.704000	0.05042	0.561000	0.74099	GCT		0.597	PDCD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050151.1			6	24	0	0	0	1	0	6	24					A	105201637	G	A	105201637	3	1	435	1	0	0	0	0	1	0	0	0	11617	1087	38	1	4730	1	PDCD11	10	105201637	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	16436	105201637	30333110	4846	25771											
PDCD11	22984	broad.mit.edu	37	chr10	105203743	105203743	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgtgtggatcaaatacggCgccttccttctgcggaggag	7	10	14	10	3	2	0	1	0	1	0	3	3	3	3	2	4	2	1	2	4	2	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:105203743C>T	ENST00000369797.3	+	34	5290	c.5196C>T	c.(5194-5196)ggC>ggT	p.G1732G		NM_014976.1	NP_055791.1	Q14690	RRP5_HUMAN	programmed cell death 11	1732					mRNA processing (GO:0006397)|rRNA processing (GO:0006364)	cytosol (GO:0005829)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	64		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)		TCAAATACGGCGCCTTCCTTC	0.602																																						ENST00000369797.3																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						c.(5194-5196)ggC>ggT		programmed cell death 11							67	66	66					10																	105203743		2203	4300	6503	SO:0001819	synonymous_variant	22984				mRNA processing|rRNA processing	nucleolus	RNA binding|transcription factor binding	g.chr10:105203743C>T	D80007	CCDS31276.1	10q24.32	2010-07-06			ENSG00000148843	ENSG00000148843			13408	protein-coding gene	gene with protein product		612333				10229231	Standard	XM_005269647		Approved	KIAA0185, ALG-4, RRP5	uc001kwy.1	Q14690	OTTHUMG00000018988	ENST00000369797.3:c.5196C>T	10.37:g.105203743C>T							p.G1732G	NM_014976.1	NP_055791.1	Q14690	RRP5_HUMAN		Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)	34	5290	+		Colorectal(252;0.0747)|Breast(234;0.128)	1732					Q2TA92|Q5W093|Q6P2J3|Q86VQ8|Q9H4P1	Silent	SNP	ENST00000369797.3	37	c.5196C>T	CCDS31276.1																																																																																				0.602	PDCD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050151.1			8	75	0	0	0	1	0	8	75					T	105203743	C	T	105203743	2	4	435	1	0	0	0	0	0	0	0	1	11617	755	27	1		1	PDCD11	10	105203743	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	2106	105203743	30331004	4847	25772											
CALHM2	51063	broad.mit.edu	37	chr10	105209329	105209329	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acagacataagcctcaccacGcagcagggagatgacagacc	15	3	10	13	1	1	4	1	1	0	3	1	5	1	4	3	1	2	2	3	1	1	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:105209329G>A	ENST00000260743.5	-	3	893	c.370C>T	c.(370-372)Cgt>Tgt	p.R124C	CALHM2_ENST00000393235.1_Missense_Mutation_p.R124C|RP11-225H22.7_ENST00000608063.1_RNA|CALHM2_ENST00000369788.3_Missense_Mutation_p.R124C|CALHM2_ENST00000494180.1_5'Flank	NM_015916.4	NP_057000.2	Q9HA72	CAHM2_HUMAN	calcium homeostasis modulator 2	124					ion transport (GO:0006811)	integral component of membrane (GO:0016021)				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(5)|skin(1)	11						GCCTCACCACGCAGCAGGGAG	0.607																																						ENST00000393235.1																			0				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(5)|skin(1)	11						c.(370-372)Cgt>Tgt		calcium homeostasis modulator 2							91	77	81					10																	105209329		2203	4300	6503	SO:0001583	missense	51063					integral to membrane		g.chr10:105209329G>A	BC000039	CCDS7549.1	10q24.33	2008-07-02	2008-07-02	2008-07-02	ENSG00000138172	ENSG00000138172			23493	protein-coding gene	gene with protein product		612235	"family with sequence similarity 26, member B"	FAM26B		18585350	Standard	NM_015916		Approved		uc001kxa.3	Q9HA72	OTTHUMG00000018990	ENST00000260743.5:c.370C>T	10.37:g.105209329G>A	ENSP00000260743:p.Arg124Cys					CALHM2_ENST00000260743.5_Missense_Mutation_p.R124C|CALHM2_ENST00000369788.3_Missense_Mutation_p.R124C	p.R124C			Q9HA72	CAHM2_HUMAN			3	1567	-			124					D3DR94|O95893|Q6ZUV9	Missense_Mutation	SNP	ENST00000260743.5	37	c.370C>T	CCDS7549.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.310532	0.81358	.	.	ENSG00000138172	ENST00000369788;ENST00000260743;ENST00000393235	T;T;T	0.19250	2.16;2.16;2.16	5.31	4.37	0.52481	.	0.058276	0.64402	D	0.000002	T	0.44052	0.1275	M	0.68317	2.08	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;0.999	D;D;P	0.74023	0.982;0.966;0.894	T	0.38693	-0.9649	10	0.59425	D	0.04	-27.0597	15.344	0.74320	0.0:0.0:0.86:0.14	.	124;124;124	Q9HA72-2;Q9HA72-3;Q9HA72	.;.;CAHM2_HUMAN	C	124	ENSP00000358803:R124C;ENSP00000260743:R124C;ENSP00000376927:R124C	ENSP00000260743:R124C	R	-	1	0	CALHM2	105199319	0.997000	0.39634	0.992000	0.48379	0.996000	0.88848	3.045000	0.49838	2.474000	0.83562	0.561000	0.74099	CGT		0.607	CALHM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050159.1	NM_015916		18	26	0	0	0	1	0	18	26					A	105209329	G	A	105209329	3	1	435	1	0	0	0	0	1	0	0	0	2583	1087	38	1	609	1	CALHM2	10	105209329	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	5586	105209329	30325418	4848	25773											
NEURL	9148	broad.mit.edu	37	chr10	105331341	105331341	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcccgcatccaccctgactcGctgcccaagtacgcctgccc	6	7	7	21	3	0	1	0	1	0	0	3	1	2	1	6	0	3	3	6	0	2	1	rs553526126		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:105331341G>A	ENST00000369780.4	+	3	820	c.411G>A	c.(409-411)tcG>tcA	p.S137S	NEURL_ENST00000369777.2_Silent_p.S120S	NM_004210.4	NP_004201.3	O76050	NEUL1_HUMAN		137	NHR 1. {ECO:0000255|PROSITE- ProRule:PRU00400}.				brain development (GO:0007420)|cellular response to amino acid stimulus (GO:0071230)|lactation (GO:0007595)|negative regulation of cell proliferation (GO:0008285)|negative regulation of Notch signaling pathway (GO:0045746)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|positive regulation of apoptotic process (GO:0043065)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|positive regulation of synapse maturation (GO:0090129)|protein monoubiquitination (GO:0006513)|skeletal muscle tissue development (GO:0007519)|sperm axoneme assembly (GO:0007288)|sperm motility (GO:0030317)	apical dendrite (GO:0097440)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	ligase activity (GO:0016874)|translation factor activity, non-nucleic acid binding (GO:0045183)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(4)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	17				Epithelial(162;2.12e-09)|all cancers(201;6.99e-08)|BRCA - Breast invasive adenocarcinoma(275;0.125)		ACCCTGACTCGCTGCCCAAGT	0.647													G|||	1	0.000199681	0	0.0014	5008	,	,		16078	0		0	False		,,,				2504	0					ENST00000369780.4																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(4)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	17						c.(409-411)tcG>tcA									62	50	54					10																	105331341		2203	4300	6503	SO:0001819	synonymous_variant	0				nervous system development	perinuclear region of cytoplasm	zinc ion binding	g.chr10:105331341G>A																												ENST00000369780.4:c.411G>A	10.37:g.105331341G>A						NEURL_ENST00000369777.2_Silent_p.S120S	p.S137S	NM_004210.4	NP_004201.3	O76050	NEU1A_HUMAN		Epithelial(162;2.12e-09)|all cancers(201;6.99e-08)|BRCA - Breast invasive adenocarcinoma(275;0.125)	3	820	+			137			NHR 1.		Q5TDR2|Q5TDR3|Q8TAN0|Q9H463	Silent	SNP	ENST00000369780.4	37	c.411G>A	CCDS7551.1																																																																																				0.647	NEURL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050170.1			8	9	0	0	0	1	0	8	9					A	105331341	G	A	105331341	2	1	435	1	0	0	0	0	0	0	0	1	10345	1074	38	1		1	NEURL	10	105331341	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	122012	105331341	30203406	4849	25774											
COL17A1	1308	broad.mit.edu	37	chr10	105830199	105830199	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttacccgactgggagctcgCtgtcacaattttggtctcca	7	12	9	13	2	2	0	1	0	1	0	4	2	2	1	2	2	2	2	2	2	2	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:105830199C>T	ENST00000353479.5	-	9	882	c.592G>A	c.(592-594)Gcg>Acg	p.A198T	COL17A1_ENST00000369733.3_Missense_Mutation_p.A198T|COL17A1_ENST00000393211.3_Missense_Mutation_p.A198T	NM_000494.3	NP_000485.3	Q9UMD9	COHA1_HUMAN	collagen, type XVII, alpha 1	198	Necessary for interaction with DST and for the recruitment of DST to hemidesmosome.|Nonhelical region (NC16).				cell junction assembly (GO:0034329)|cell-matrix adhesion (GO:0007160)|collagen catabolic process (GO:0030574)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|hemidesmosome (GO:0030056)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				NS(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|liver(1)|lung(22)|ovary(5)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	62		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		TGGGAGCTCGCTGTCACAATT	0.562																																						ENST00000353479.5																			0				NS(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|liver(1)|lung(22)|ovary(5)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	62						c.(592-594)Gcg>Acg		collagen, type XVII, alpha 1							106	93	98					10																	105830199		2203	4300	6503	SO:0001583	missense	1308				cell-matrix adhesion|epidermis development|hemidesmosome assembly	basement membrane|cell-cell junction|collagen|hemidesmosome|integral to plasma membrane	protein binding	g.chr10:105830199C>T	M91669	CCDS7554.1	10q24.3	2013-01-16			ENSG00000065618	ENSG00000065618		"Collagens"	2194	protein-coding gene	gene with protein product		113811		BPAG2		7916703	Standard	NM_000494		Approved	BP180	uc001kxr.3	Q9UMD9	OTTHUMG00000018998	ENST00000353479.5:c.592G>A	10.37:g.105830199C>T	ENSP00000340937:p.Ala198Thr					COL17A1_ENST00000369733.3_Missense_Mutation_p.A198T|COL17A1_ENST00000393211.3_Missense_Mutation_p.A198T	p.A198T	NM_000494.3	NP_000485.3	Q9UMD9	COHA1_HUMAN		Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)	9	882	-		Colorectal(252;0.103)|Breast(234;0.122)	198			Necessary for interaction with DST and for the recruitment of DST to hemidesmosome.|Nonhelical region (NC16).		Q02802|Q5JV36|Q99018|Q9NQK9|Q9UC14	Missense_Mutation	SNP	ENST00000353479.5	37	c.592G>A	CCDS7554.1	.	.	.	.	.	.	.	.	.	.	C	16.34	3.094567	0.56075	.	.	ENSG00000065618	ENST00000353479;ENST00000369733;ENST00000541872;ENST00000393211	T;T;T	0.57436	0.4;0.4;0.4	5.72	5.72	0.89469	.	0.329110	0.21650	N	0.071190	T	0.50803	0.1637	L	0.51422	1.61	0.23440	N	0.997673	P;P;P	0.41848	0.763;0.554;0.651	B;B;B	0.39027	0.288;0.073;0.115	T	0.48885	-0.8995	10	0.30078	T	0.28	-8.615	19.4578	0.94903	0.0:1.0:0.0:0.0	.	198;198;198	Q9UMD9-2;A2A2Y8;Q9UMD9	.;.;COHA1_HUMAN	T	198;198;182;198	ENSP00000340937:A198T;ENSP00000358748:A198T;ENSP00000376905:A198T	ENSP00000340937:A198T	A	-	1	0	COL17A1	105820189	0.996000	0.38824	0.685000	0.30070	0.640000	0.38277	6.726000	0.74758	2.692000	0.91855	0.561000	0.74099	GCG		0.562	COL17A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050181.1	NM_130778, NM_000494		21	22	0	0	0	1	0	21	22					T	105830199	C	T	105830199	3	4	435	1	0	0	0	0	1	0	0	0	3674	797	28	3	4093	3	COL17A1	10	105830199	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	498858	105830199	29704548	4850	25775											
C10orf79	80217	broad.mit.edu	37	chr10	105923981	105923981	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acatttctttccttcacgcgTgcaatttcaaactctttttg	8	18	4	11	2	4	0	2	0	2	0	5	0	5	0	1	0	2	1	1	0	2	6			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:105923981T>C	ENST00000357060.3	-	24	3232	c.3117A>G	c.(3115-3117)gcA>gcG	p.A1039A	WDR96_ENST00000428666.1_Silent_p.A1040A	NM_025145.5	NP_079421.5														NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(14)|lung(21)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						CCTTCACGCGTGCAATTTCAA	0.343																																						ENST00000357060.3																			0				NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(14)|lung(21)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						c.(3115-3117)gcA>gcG		WD repeat domain 96							102	87	92					10																	105923981		2203	4299	6502	SO:0001819	synonymous_variant	80217							g.chr10:105923981T>C																												ENST00000357060.3:c.3117A>G	10.37:g.105923981T>C						WDR96_ENST00000428666.1_Silent_p.A1040A	p.A1039A	NM_025145.5	NP_079421.5	Q8NDM7	WDR96_HUMAN			24	3232	-			1039						Silent	SNP	ENST00000357060.3	37	c.3117A>G	CCDS31281.1	.	.	.	.	.	.	.	.	.	.	T	4.522	0.096933	0.08681	.	.	ENSG00000197748	ENST00000434629	.	.	.	6.06	-2.66	0.06077	.	.	.	.	.	T	0.38026	0.1025	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.28933	-1.0028	4	.	.	.	.	0.7972	0.01068	0.3232:0.1197:0.2038:0.3533	.	.	.	.	R	400	.	.	H	-	2	0	WDR96	105913971	0.101000	0.21875	0.402000	0.26371	0.421000	0.31385	-0.074000	0.11450	-0.743000	0.04784	-0.323000	0.08544	CAC		0.343	WDR96-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				5	29	0	0	0	1	0	5	29					C	105923981	T	C	105923981	2	2	435	1	0	0	0	0	0	0	0	1	1618	1683	59	4		4	C10orf79	10	105923981	Silent	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	93782	105923981	29610766	4851	25776											
C10orf79	80217	broad.mit.edu	37	chr10	105945830	105945830	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagcagtccaggtccatactGtctgctttgtacttttttgt	6	17	9	9	0	1	0	0	0	1	0	3	1	3	0	2	1	4	3	2	1	2	6			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:105945830G>A	ENST00000278064.2	-	15	2030	c.1705C>T	c.(1705-1707)Cag>Tag	p.Q569*	WDR96_ENST00000428666.1_Nonsense_Mutation_p.Q639*|WDR96_ENST00000357060.3_Nonsense_Mutation_p.Q638*																NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(14)|lung(21)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						GGTCCATACTGTCTGCTTTGT	0.373																																						ENST00000357060.3																			0				NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(14)|lung(21)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						c.(1912-1914)Cag>Tag		WD repeat domain 96							164	161	162					10																	105945830		2203	4300	6503	SO:0001587	stop_gained	80217							g.chr10:105945830G>A																												ENST00000278064.2:c.1705C>T	10.37:g.105945830G>A	ENSP00000278064:p.Gln569*					WDR96_ENST00000278064.2_Nonsense_Mutation_p.Q569*|WDR96_ENST00000428666.1_Nonsense_Mutation_p.Q639*	p.Q638*	NM_025145.5	NP_079421.5	Q8NDM7	WDR96_HUMAN			15	2027	-			638						Nonsense_Mutation	SNP	ENST00000278064.2	37	c.1912C>T		.	.	.	.	.	.	.	.	.	.	G	41	8.724912	0.98929	.	.	ENSG00000197748	ENST00000357060;ENST00000428666;ENST00000278064	.	.	.	5.95	5.05	0.67936	.	0.909508	0.09074	N	0.852427	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.0893	0.48106	0.0843:0.0:0.9157:0.0	.	.	.	.	X	638;639;569	.	.	Q	-	1	0	WDR96	105935820	0.925000	0.31364	0.490000	0.27465	0.475000	0.33008	5.263000	0.65507	1.535000	0.49220	-0.136000	0.14681	CAG		0.373	WDR96-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000050200.1			14	76	0	0	0	1	0	14	76					A	105945830	G	A	105945830	4	1	435	1	0	0	0	0	0	1	0	0	1618	1386	48	3	3181	3	C10orf79	10	105945830	Nonsense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	21849	105945830	29588917	4852	25777											
ITPRIP	85450	broad.mit.edu	37	chr10	106075068	106075068	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctcaatgtgtccccatcggCgcggaccaccttgatctggc	6	9	11	15	3	2	1	1	1	1	0	4	2	3	2	4	3	0	1	4	3	1	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:106075068C>T	ENST00000337478.1	-	2	913	c.742G>A	c.(742-744)Gcc>Acc	p.A248T	ITPRIP_ENST00000278071.2_Missense_Mutation_p.A248T|RP11-127L20.5_ENST00000472915.2_RNA|ITPRIP_ENST00000358187.2_Missense_Mutation_p.A248T	NM_001272013.1	NP_001258942.1	Q8IWB1	IPRI_HUMAN	inositol 1,4,5-trisphosphate receptor interacting protein	248						membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(1)|endometrium(3)|large_intestine(5)|liver(1)|lung(9)|upper_aerodigestive_tract(1)	20						TCCCCATCGGCGCGGACCACC	0.667																																						ENST00000278071.2																			0				breast(1)|endometrium(3)|large_intestine(5)|liver(1)|lung(9)|upper_aerodigestive_tract(1)	20						c.(742-744)Gcc>Acc		inositol 1,4,5-trisphosphate receptor interacting protein							40	41	41					10																	106075068		2203	4300	6503	SO:0001583	missense	85450					plasma membrane		g.chr10:106075068C>T	AB051541	CCDS7557.1	10q25.1	2011-04-28	2011-04-28	2008-08-11	ENSG00000148841	ENSG00000148841			29370	protein-coding gene	gene with protein product			"KIAA1754", "inositol 1,4,5-triphosphate receptor interacting protein"	KIAA1754		11214970, 16990268	Standard	NM_001272012		Approved	bA127L20.2, DANGER	uc001kye.4	Q8IWB1	OTTHUMG00000019003	ENST00000337478.1:c.742G>A	10.37:g.106075068C>T	ENSP00000337178:p.Ala248Thr					ITPRIP_ENST00000358187.2_Missense_Mutation_p.A248T|ITPRIP_ENST00000337478.1_Missense_Mutation_p.A248T	p.A248T	NM_033397.2	NP_203755.1	Q8IWB1	IPRI_HUMAN			3	1194	-			248					D3DRA5|Q5JU17|Q96MS8|Q9C0A9	Missense_Mutation	SNP	ENST00000337478.1	37	c.742G>A	CCDS7557.1	.	.	.	.	.	.	.	.	.	.	C	0.024	-1.387461	0.01194	.	.	ENSG00000148841	ENST00000337478;ENST00000278071;ENST00000358187	T;T;T	0.22945	1.93;1.93;1.93	5.25	2.3	0.28687	.	0.358546	0.30338	N	0.009844	T	0.17577	0.0422	L	0.57536	1.79	0.09310	N	1	B	0.30709	0.291	B	0.19391	0.025	T	0.14392	-1.0474	10	0.19147	T	0.46	-14.9797	4.5105	0.11908	0.1265:0.6114:0.1228:0.1393	.	248	Q8IWB1	IPRI_HUMAN	T	248	ENSP00000337178:A248T;ENSP00000278071:A248T;ENSP00000350915:A248T	ENSP00000278071:A248T	A	-	1	0	ITPRIP	106065058	0.002000	0.14202	0.005000	0.12908	0.001000	0.01503	1.025000	0.30090	0.687000	0.31509	-0.518000	0.04402	GCC		0.667	ITPRIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050204.1	NM_033397		25	29	0	0	0	1	0	25	29					T	106075068	C	T	106075068	3	4	435	1	0	0	0	0	1	0	0	0	7923	768	27	1	905	1	ITPRIP	10	106075068	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	129238	106075068	29459679	4853	25778											
SORCS3	22986	broad.mit.edu	37	chr10	106976777	106976777	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacttcagccccatcgaggaCggcatcaagcacgtgtataa	13	7	9	12	3	2	0	2	0	0	0	3	2	2	1	2	2	3	3	2	2	4	3	rs143982937		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:106976777C>T	ENST00000369701.3	+	19	2858	c.2631C>T	c.(2629-2631)gaC>gaT	p.D877D	SORCS3_ENST00000369699.4_Silent_p.D163D	NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	877	PKD. {ECO:0000255|PROSITE- ProRule:PRU00151}.				learning (GO:0007612)|memory (GO:0007613)|neuropeptide signaling pathway (GO:0007218)|regulation of long term synaptic depression (GO:1900452)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|neuronal postsynaptic density (GO:0097481)	neuropeptide receptor activity (GO:0008188)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		CCATCGAGGACGGCATCAAGC	0.527													C|||	1	0.000199681	0	0	5008	,	,		20769	0.001		0	False		,,,				2504	0				NSCLC(116;1497 1690 7108 13108 14106)	ENST00000369701.3																			0				autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131						c.(2629-2631)gaC>gaT		sortilin-related VPS10 domain containing receptor 3		C		2,4404	4.2+/-10.8	0,2,2201	178	135	149		2631	-11.6	0.2	10	dbSNP_134	149	0,8600		0,0,4300	no	coding-synonymous	SORCS3	NM_014978.1		0,2,6501	TT,TC,CC		0.0,0.0454,0.0154		877/1223	106976777	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	22986					integral to membrane	neuropeptide receptor activity	g.chr10:106976777C>T	AB028982	CCDS7558.1	10q23-q25	2006-04-12			ENSG00000156395	ENSG00000156395			16699	protein-coding gene	gene with protein product		606285				11499680	Standard	NM_014978		Approved	KIAA1059, SORCS	uc001kyi.1	Q9UPU3	OTTHUMG00000019011	ENST00000369701.3:c.2631C>T	10.37:g.106976777C>T						SORCS3_ENST00000369699.4_Silent_p.D163D	p.D877D	NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)	19	2858	+		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)	877			PKD.		Q5VXF9|Q9NQJ2	Silent	SNP	ENST00000369701.3	37	c.2631C>T	CCDS7558.1																																																																																				0.527	SORCS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050221.1	NM_014978		30	45	0	0	0	1	0	30	45					T	106976777	C	T	106976777	2	4	435	1	0	0	0	0	0	0	0	1	14932	535	19	1		1	SORCS3	10	106976777	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	901709	106976777	28557970	4854	25779											
SORCS1	114815	broad.mit.edu	37	chr10	108389096	108389096	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgagattgacgtaagacacCgcgataccatcgccaaagtc	13	7	9	12	4	0	3	0	2	0	2	2	5	0	3	3	0	1	1	3	0	3	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:108389096C>T	ENST00000263054.6	-	19	2533	c.2526G>A	c.(2524-2526)gcG>gcA	p.A842A	SORCS1_ENST00000369698.1_Silent_p.A377A|SORCS1_ENST00000344440.6_Silent_p.A842A	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN	sortilin-related VPS10 domain containing receptor 1	842	PKD. {ECO:0000255|PROSITE- ProRule:PRU00151}.				neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	neuropeptide receptor activity (GO:0008188)			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		CGTAAGACACCGCGATACCAT	0.502																																						ENST00000263054.6																			0				breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127						c.(2524-2526)gcG>gcA		sortilin-related VPS10 domain containing receptor 1							169	118	135					10																	108389096		2203	4300	6503	SO:0001819	synonymous_variant	114815					integral to membrane	neuropeptide receptor activity|protein binding	g.chr10:108389096C>T	AF284756	CCDS7559.1	10q23-q25	2004-04-20			ENSG00000108018	ENSG00000108018			16697	protein-coding gene	gene with protein product		606283				11499680	Standard	NM_001206570		Approved	sorCS1	uc001kyl.3	Q8WY21	OTTHUMG00000019018	ENST00000263054.6:c.2526G>A	10.37:g.108389096C>T						SORCS1_ENST00000344440.6_Silent_p.A842A|SORCS1_ENST00000369698.1_Silent_p.A377A	p.A842A	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN		Epithelial(162;1.66e-05)|all cancers(201;0.000689)	19	2533	-		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)	842			PKD.		A2RRF4|Q59GG7|Q5JVT7|Q5JVT8|Q5VY14|Q86WQ1|Q86WQ2|Q9H1Y1|Q9H1Y2	Silent	SNP	ENST00000263054.6	37	c.2526G>A	CCDS7559.1																																																																																				0.502	SORCS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050232.4	NM_052918		4	33	0	0	0	1	0	4	33					T	108389096	C	T	108389096	2	4	435	1	0	0	0	0	0	0	0	1	14930	639	23	2		2	SORCS1	10	108389096	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	1412319	108389096	27145651	4855	25780											
SORCS1	114815	broad.mit.edu	37	chr10	108432670	108432670	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtagtcctcttcggcacaccGtctatcaaaaatggacttgt	10	12	8	11	2	3	0	1	0	2	0	5	1	4	1	2	2	0	2	2	2	4	4	rs143914023		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:108432670G>A	ENST00000263054.6	-	15	2021	c.2014C>T	c.(2014-2016)Cgg>Tgg	p.R672W	SORCS1_ENST00000369698.1_Missense_Mutation_p.R207W|SORCS1_ENST00000344440.6_Missense_Mutation_p.R672W	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN	sortilin-related VPS10 domain containing receptor 1	672					neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	neuropeptide receptor activity (GO:0008188)			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		TCGGCACACCGTCTATCAAAA	0.488																																						ENST00000263054.6																			0				breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127						c.(2014-2016)Cgg>Tgg		sortilin-related VPS10 domain containing receptor 1		G	TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG	0,4406		0,0,2203	84	70	75		2014,2014,2014,2014,2014,2014	-0.1	0.8	10	dbSNP_134	75	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense,missense,missense	SORCS1	NM_001013031.2,NM_001206569.1,NM_001206570.1,NM_001206571.1,NM_001206572.1,NM_052918.4	101,101,101,101,101,101	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	672/1199,672/1180,672/1131,672/1160,672/1180,672/1169	108432670	1,13005	2203	4300	6503	SO:0001583	missense	114815					integral to membrane	neuropeptide receptor activity|protein binding	g.chr10:108432670G>A	AF284756	CCDS7559.1	10q23-q25	2004-04-20			ENSG00000108018	ENSG00000108018			16697	protein-coding gene	gene with protein product		606283				11499680	Standard	NM_001206570		Approved	sorCS1	uc001kyl.3	Q8WY21	OTTHUMG00000019018	ENST00000263054.6:c.2014C>T	10.37:g.108432670G>A	ENSP00000263054:p.Arg672Trp					SORCS1_ENST00000344440.6_Missense_Mutation_p.R672W|SORCS1_ENST00000369698.1_Missense_Mutation_p.R207W	p.R672W	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN		Epithelial(162;1.66e-05)|all cancers(201;0.000689)	15	2021	-		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)	672					A2RRF4|Q59GG7|Q5JVT7|Q5JVT8|Q5VY14|Q86WQ1|Q86WQ2|Q9H1Y1|Q9H1Y2	Missense_Mutation	SNP	ENST00000263054.6	37	c.2014C>T	CCDS7559.1	.	.	.	.	.	.	.	.	.	.	G	18.71	3.681592	0.68042	0.0	1.16E-4	ENSG00000108018	ENST00000369698;ENST00000263054;ENST00000344440	T;T;T	0.29917	1.55;1.55;1.55	5.47	-0.143	0.13444	VPS10 (1);	0.132411	0.49305	N	0.000151	T	0.47691	0.1459	M	0.67953	2.075	0.40136	D	0.976777	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.75484	0.968;0.978;0.986;0.968;0.986	T	0.42137	-0.9469	9	.	.	.	-6.2946	11.4184	0.49967	0.064:0.0:0.2926:0.6433	.	672;672;672;672;672	A8K182;Q8WY21-4;Q8WY21-3;Q8WY21;Q8WY21-2	.;.;.;SORC1_HUMAN;.	W	207;672;672	ENSP00000358712:R207W;ENSP00000263054:R672W;ENSP00000345964:R672W	.	R	-	1	2	SORCS1	108422660	0.134000	0.22483	0.849000	0.33467	0.991000	0.79684	0.199000	0.17237	-0.009000	0.14296	0.563000	0.77884	CGG		0.488	SORCS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050232.4	NM_052918		9	31	0	0	0	1	0	9	31					A	108432670	G	A	108432670	3	1	435	1	0	0	0	0	1	0	0	0	14930	1144	40	1	1774	1	SORCS1	10	108432670	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	43574	108432670	27102077	4856	25781											
MXI1	4601	broad.mit.edu	37	chr10	112038952	112038952	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttagacgagctcatctgcGcctttgtttagaacgcttaa	9	14	8	10	3	3	2	1	0	2	2	3	3	3	2	1	0	3	3	1	0	4	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:112038952G>A	ENST00000239007.7	+	4	469	c.251G>A	c.(250-252)cGc>cAc	p.R84H	MXI1_ENST00000361248.4_Missense_Mutation_p.R38H|MXI1_ENST00000393134.1_Missense_Mutation_p.R74H|MXI1_ENST00000485566.1_3'UTR|MXI1_ENST00000369612.1_Missense_Mutation_p.R48H|MXI1_ENST00000332674.5_Missense_Mutation_p.R151H	NM_005962.4	NP_005953.4	P50539	MXI1_HUMAN	MAX interactor 1, dimerization protein	84	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				cytoplasmic sequestering of transcription factor (GO:0042994)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(1)	10		Breast(234;0.052)|Lung NSC(174;0.223)		Epithelial(162;1.33e-05)|all cancers(201;0.000277)|BRCA - Breast invasive adenocarcinoma(275;0.127)		GCTCATCTGCGCCTTTGTTTA	0.383																																						ENST00000332674.5																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(1)	10						c.(451-453)cGc>cAc		MAX interactor 1, dimerization protein							140	129	133					10																	112038952		2203	4300	6503	SO:0001583	missense	4601				cytoplasmic sequestering of transcription factor|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription corepressor activity	g.chr10:112038952G>A	BC016678	CCDS7563.1, CCDS7564.2, CCDS31284.1	10q24-q25	2012-11-15	2012-11-15		ENSG00000119950	ENSG00000119950		"MAX dimerization proteins", "Basic helix-loop-helix proteins"	7534	protein-coding gene	gene with protein product		600020	"MAX interacting protein 1", "MAX interactor 1"			7959753	Standard	NM_130439		Approved	MXD2, MAD2, MXI, bHLHc11	uc001kyy.3	P50539	OTTHUMG00000019033	ENST00000239007.7:c.251G>A	10.37:g.112038952G>A	ENSP00000239007:p.Arg84His					MXI1_ENST00000369612.1_Missense_Mutation_p.R48H|MXI1_ENST00000393134.1_Missense_Mutation_p.R74H|MXI1_ENST00000239007.7_Missense_Mutation_p.R84H|MXI1_ENST00000361248.4_Missense_Mutation_p.R38H|MXI1_ENST00000485566.1_3'UTR	p.R151H	NM_130439.3	NP_569157.2	P50539	MXI1_HUMAN		Epithelial(162;1.33e-05)|all cancers(201;0.000277)|BRCA - Breast invasive adenocarcinoma(275;0.127)	4	656	+		Breast(234;0.052)|Lung NSC(174;0.223)	84					B1ANN7|D3DR25|D3DRA9|Q15887|Q6FHW2|Q96E53	Missense_Mutation	SNP	ENST00000239007.7	37	c.452G>A	CCDS7564.2	.	.	.	.	.	.	.	.	.	.	G	29.3	4.996929	0.93167	.	.	ENSG00000119950	ENST00000332674;ENST00000453116;ENST00000361248;ENST00000239007;ENST00000369619;ENST00000393134;ENST00000369614;ENST00000369613;ENST00000442296;ENST00000369612	D;D;D;D;D;D;D	0.97976	-4.64;-4.64;-4.64;-4.64;-4.64;-4.64;-4.64	5.65	5.65	0.86999	Helix-loop-helix DNA-binding (5);	0.139926	0.64402	N	0.000002	D	0.99052	0.9675	M	0.90922	3.16	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.997;0.996;0.999;0.998	D	0.99505	1.0954	10	0.87932	D	0	-15.8328	19.7215	0.96144	0.0:0.0:1.0:0.0	.	74;48;84;151	B1ANN8;P50539-2;P50539;P50539-3	.;.;MXI1_HUMAN;.	H	151;141;38;84;74;74;48;48;48;48	ENSP00000331152:R151H;ENSP00000398981:R141H;ENSP00000354606:R38H;ENSP00000239007:R84H;ENSP00000376842:R74H;ENSP00000407711:R48H;ENSP00000358625:R48H	ENSP00000239007:R84H	R	+	2	0	MXI1	112028942	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.828000	0.99408	2.672000	0.90937	0.591000	0.81541	CGC		0.383	MXI1-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000050316.1	NM_130439		14	19	0	0	0	1	0	14	19					A	112038952	G	A	112038952	3	1	435	1	0	0	0	0	1	0	0	0	10002	1087	38	1	543	1	MXI1	10	112038952	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	3606282	112038952	23495795	4857	25782											
ACSL5	51703	broad.mit.edu	37	chr10	114136074	114136074	+	5'UTR	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggccttctgcctgcatggacGctctgaagccaccctgtctc	5	10	10	16	1	3	1	0	1	3	0	4	2	3	2	4	2	3	2	4	2	1	1	rs199838168		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:114136074G>A	ENST00000354273.4	+	0	118				ACSL5_ENST00000433418.1_5'UTR|ACSL5_ENST00000354655.4_Intron|ACSL5_ENST00000479936.1_Intron|ACSL5_ENST00000393081.1_Intron|ACSL5_ENST00000356116.1_Missense_Mutation_p.A3T			Q9ULC5	ACSL5_HUMAN	acyl-CoA synthetase long-chain family member 5						cellular lipid metabolic process (GO:0044255)|long-chain fatty acid metabolic process (GO:0001676)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|regulation of extrinsic apoptotic signaling pathway (GO:2001236)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|long-chain fatty acid-CoA ligase activity (GO:0004467)			breast(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|stomach(1)	21		Colorectal(252;0.117)|Breast(234;0.222)		Epithelial(162;0.0343)|all cancers(201;0.137)		CTGCATGGACGCTCTGAAGCC	0.617																																						ENST00000356116.1																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|stomach(1)	21						c.(7-9)Gct>Act		acyl-CoA synthetase long-chain family member 5							85	90	88					10																	114136074		2203	4300	6503	SO:0001623	5_prime_UTR_variant	51703				fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|mitochondrial outer membrane	ATP binding|long-chain fatty acid-CoA ligase activity	g.chr10:114136074G>A	AB033899	CCDS7572.1, CCDS7573.1	10q25.1-q25.2	2004-06-21	2004-02-19	2004-02-20	ENSG00000197142	ENSG00000197142		"Acyl-CoA synthetase family"	16526	protein-coding gene	gene with protein product	"FACL5 for fatty acid coenzyme A ligase 5", "long-chain acyl-CoA synthetase 5", "long-chain fatty acid coenzyme A ligase 5", "fatty-acid-Coenzyme A ligase, long-chain 5"	605677	"fatty-acid-Coenzyme A ligase, long-chain 5"	FACL5		11127823	Standard	NM_016234		Approved	ACS5, ACS2	uc001kzu.3	Q9ULC5	OTTHUMG00000019060	ENST00000354273.4:c.-162G>A	10.37:g.114136074G>A						ACSL5_ENST00000354655.4_Intron|ACSL5_ENST00000393081.1_Intron|ACSL5_ENST00000433418.1_5'UTR|ACSL5_ENST00000479936.1_Intron|ACSL5_ENST00000354273.4_5'UTR	p.A3T	NM_016234.3	NP_057318.2	Q9ULC5	ACSL5_HUMAN		Epithelial(162;0.0343)|all cancers(201;0.137)	1	119	+		Colorectal(252;0.117)|Breast(234;0.222)	0					A6GV77|D3DRB3|Q6UX44|Q9UIU4	Missense_Mutation	SNP	ENST00000354273.4	37	c.7G>A	CCDS7573.1	.	.	.	.	.	.	.	.	.	.	G	18.47	3.631075	0.67015	.	.	ENSG00000197142	ENST00000356116	T	0.26223	1.75	4.93	0.622	0.17648	.	.	.	.	.	T	0.16385	0.0394	.	.	.	0.09310	N	0.999995	B	0.06786	0.001	B	0.06405	0.002	T	0.29027	-1.0025	8	0.87932	D	0	0.0042	2.7819	0.05363	0.0931:0.1396:0.3737:0.3937	.	3	Q9ULC5-3	.	T	3	ENSP00000348429:A3T	ENSP00000348429:A3T	A	+	1	0	ACSL5	114126064	0.000000	0.05858	0.002000	0.10522	0.040000	0.13550	-0.092000	0.11129	0.016000	0.14998	-0.274000	0.10170	GCT		0.617	ACSL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050386.1	NM_016234		21	37	0	0	0	1	0	21	37					A	114136074	G	A	114136074	1	1	435	0	1	0	0	0	0	0	0	0	180	1087	38	1		1	ACSL5	10	114136074	5'UTR	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	2097122	114136074	21398673	4858	25783											
ACSL5	51703	broad.mit.edu	37	chr10	114182104	114182104	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgcatcaagggtacaaacGtgttcaaaggatacctgaag	14	9	10	8	1	3	1	2	1	1	0	3	2	3	2	1	2	4	3	1	2	6	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:114182104G>A	ENST00000393081.1	+	17	1805	c.1498G>A	c.(1498-1500)Gtg>Atg	p.V500M	ACSL5_ENST00000369410.3_Missense_Mutation_p.V282M|ACSL5_ENST00000354273.4_Missense_Mutation_p.V500M|ACSL5_ENST00000433418.1_Missense_Mutation_p.V500M|ACSL5_ENST00000354655.4_Missense_Mutation_p.V500M|RP11-324O2.6_ENST00000424422.1_RNA|ACSL5_ENST00000356116.1_Missense_Mutation_p.V556M	NM_203380.1	NP_976314.1	Q9ULC5	ACSL5_HUMAN	acyl-CoA synthetase long-chain family member 5	500					cellular lipid metabolic process (GO:0044255)|long-chain fatty acid metabolic process (GO:0001676)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|regulation of extrinsic apoptotic signaling pathway (GO:2001236)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|long-chain fatty acid-CoA ligase activity (GO:0004467)			breast(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|stomach(1)	21		Colorectal(252;0.117)|Breast(234;0.222)		Epithelial(162;0.0343)|all cancers(201;0.137)		GGGTACAAACGTGTTCAAAGG	0.547																																						ENST00000393081.1																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|stomach(1)	21						c.(1498-1500)Gtg>Atg		acyl-CoA synthetase long-chain family member 5							111	98	102					10																	114182104		2203	4300	6503	SO:0001583	missense	51703				fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|mitochondrial outer membrane	ATP binding|long-chain fatty acid-CoA ligase activity	g.chr10:114182104G>A	AB033899	CCDS7572.1, CCDS7573.1	10q25.1-q25.2	2004-06-21	2004-02-19	2004-02-20	ENSG00000197142	ENSG00000197142		"Acyl-CoA synthetase family"	16526	protein-coding gene	gene with protein product	"FACL5 for fatty acid coenzyme A ligase 5", "long-chain acyl-CoA synthetase 5", "long-chain fatty acid coenzyme A ligase 5", "fatty-acid-Coenzyme A ligase, long-chain 5"	605677	"fatty-acid-Coenzyme A ligase, long-chain 5"	FACL5		11127823	Standard	NM_016234		Approved	ACS5, ACS2	uc001kzu.3	Q9ULC5	OTTHUMG00000019060	ENST00000393081.1:c.1498G>A	10.37:g.114182104G>A	ENSP00000376796:p.Val500Met					ACSL5_ENST00000354655.4_Missense_Mutation_p.V500M|ACSL5_ENST00000433418.1_Missense_Mutation_p.V500M|ACSL5_ENST00000354273.4_Missense_Mutation_p.V500M|ACSL5_ENST00000369410.3_Missense_Mutation_p.V282M|ACSL5_ENST00000356116.1_Missense_Mutation_p.V556M	p.V500M	NM_203380.1	NP_976314.1	Q9ULC5	ACSL5_HUMAN		Epithelial(162;0.0343)|all cancers(201;0.137)	17	1805	+		Colorectal(252;0.117)|Breast(234;0.222)	500					A6GV77|D3DRB3|Q6UX44|Q9UIU4	Missense_Mutation	SNP	ENST00000393081.1	37	c.1498G>A	CCDS7573.1	.	.	.	.	.	.	.	.	.	.	G	16.74	3.207658	0.58343	.	.	ENSG00000197142	ENST00000354655;ENST00000393081;ENST00000356116;ENST00000433418;ENST00000354273;ENST00000369410	T;T;T;T;T;T	0.51817	0.69;0.69;0.69;0.69;0.69;0.69	5.71	4.82	0.62117	AMP-dependent synthetase/ligase (1);	0.000000	0.85682	D	0.000000	T	0.73729	0.3624	M	0.91090	3.175	0.80722	D	1	D;D;D;D	0.69078	0.997;0.992;0.983;0.987	D;P;P;P	0.69307	0.963;0.852;0.796;0.869	T	0.80395	-0.1400	10	0.59425	D	0.04	-16.7949	14.9365	0.70960	0.069:0.0:0.931:0.0	.	282;500;556;500	B4DX30;A6GV77;Q9ULC5-3;Q9ULC5	.;.;.;ACSL5_HUMAN	M	500;500;556;500;500;282	ENSP00000346680:V500M;ENSP00000376796:V500M;ENSP00000348429:V556M;ENSP00000403647:V500M;ENSP00000346223:V500M;ENSP00000358418:V282M	ENSP00000346223:V500M	V	+	1	0	ACSL5	114172094	1.000000	0.71417	0.839000	0.33178	0.105000	0.19272	7.992000	0.88273	1.419000	0.47118	-0.263000	0.10527	GTG		0.547	ACSL5-203	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050386.1	NM_016234		21	23	0	0	0	1	0	21	23					A	114182104	G	A	114182104	3	1	435	1	0	0	0	0	1	0	0	0	180	1145	40	1	1732	1	ACSL5	10	114182104	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	46030	114182104	21352643	4859	25784											
TCF7L2	6934	broad.mit.edu	37	chr10	114903764	114903764	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtaggacaaatcccccatccGctaggatggttagtaccaca	12	8	9	12	1	0	0	0	0	0	0	2	2	2	2	4	3	1	4	4	3	5	4	rs369602107		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:114903764G>A	ENST00000355995.4	+	7	1275	c.768G>A	c.(766-768)ccG>ccA	p.P256P	TCF7L2_ENST00000349937.2_Silent_p.P256P|TCF7L2_ENST00000542695.1_5'UTR|TCF7L2_ENST00000545257.1_Silent_p.P256P|TCF7L2_ENST00000534894.1_Silent_p.P256P|TCF7L2_ENST00000352065.5_Silent_p.P233P|TCF7L2_ENST00000369395.1_Silent_p.P281P|TCF7L2_ENST00000536810.1_Silent_p.P256P|TCF7L2_ENST00000538897.1_Silent_p.P256P|TCF7L2_ENST00000355717.4_Silent_p.P280P|TCF7L2_ENST00000543371.1_Silent_p.P256P|TCF7L2_ENST00000369397.4_Silent_p.P233P|TCF7L2_ENST00000369389.1_5'UTR			Q9NQB0	TF7L2_HUMAN	transcription factor 7-like 2 (T-cell specific, HMG-box)	256	Mediates interaction with MAD2L2.|Pro-rich.				blood vessel development (GO:0001568)|bone mineralization (GO:0030282)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in positive regulation of epithelial to mesenchymal transition (GO:0044334)|catenin import into nucleus (GO:0035411)|cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|cellular response to starvation (GO:0009267)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic genitalia morphogenesis (GO:0030538)|embryonic hindgut morphogenesis (GO:0048619)|face morphogenesis (GO:0060325)|fat cell differentiation (GO:0045444)|generation of neurons (GO:0048699)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glycogen metabolic process (GO:0005977)|insulin metabolic process (GO:1901142)|maintenance of DNA repeat elements (GO:0043570)|multicellular organism growth (GO:0035264)|myoblast fate commitment (GO:0048625)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|negative regulation of organ growth (GO:0046621)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of type B pancreatic cell apoptotic process (GO:2000675)|neural tube development (GO:0021915)|odontogenesis of dentin-containing tooth (GO:0042475)|oligodendrocyte development (GO:0014003)|pancreas development (GO:0031016)|pituitary gland development (GO:0021983)|positive regulation of apoptotic process (GO:0043065)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of gluconeogenesis (GO:0045722)|positive regulation of heparan sulfate proteoglycan biosynthetic process (GO:0010909)|positive regulation of insulin secretion (GO:0032024)|positive regulation of protein binding (GO:0032092)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of triglyceride biosynthetic process (GO:0010867)|post-embryonic development (GO:0009791)|regulation of hormone metabolic process (GO:0032350)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|regulation of myelination (GO:0031641)|regulation of oligodendrocyte differentiation (GO:0048713)|regulation of skeletal muscle tissue development (GO:0048641)|regulation of smooth muscle cell proliferation (GO:0048660)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to glucose (GO:0009749)|secretory granule localization (GO:0032252)|skin development (GO:0043588)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	beta-catenin-TCF7L2 complex (GO:0070369)|cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein-DNA complex (GO:0032993)|transcription factor complex (GO:0005667)	armadillo repeat domain binding (GO:0070016)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|gamma-catenin binding (GO:0045295)|nuclear hormone receptor binding (GO:0035257)|protein kinase binding (GO:0019901)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II repressing transcription factor binding (GO:0001103)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)		VTI1A/TCF7L2(8)	central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(24)|liver(2)|lung(8)|ovary(1)|skin(1)	41		Breast(234;0.058)|Colorectal(252;0.0615)		Epithelial(162;0.00554)|all cancers(201;0.02)		TCCCCCATCCGCTAGGATGGT	0.463			T	VTI1A	colorectal																																	ENST00000545257.1				Dom	yes		10	10q25.3	6934	T	transcription factor 7-like 2			E	VTI1A		colorectal	VTI1A/TCF7L2(8)	0				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(24)|liver(2)|lung(8)|ovary(1)|skin(1)	41						c.(766-768)ccG>ccA		transcription factor 7-like 2 (T-cell specific, HMG-box)							70	63	65					10																	114903764		2203	4300	6503	SO:0001819	synonymous_variant	6934				anti-apoptosis|blood vessel development|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell cycle arrest|cell proliferation|fat cell differentiation|glucose homeostasis|maintenance of DNA repeat elements|myoblast cell fate commitment|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|pancreas development|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of insulin secretion|positive regulation of protein binding|positive regulation of protein export from nucleus|positive regulation of protein kinase B signaling cascade|positive regulation of transcription from RNA polymerase II promoter|regulation of hormone metabolic process|regulation of smooth muscle cell proliferation|response to glucose stimulus	beta-catenin-TCF7L2 complex|PML body|protein-DNA complex	armadillo repeat domain binding|beta-catenin binding|gamma-catenin binding|nuclear hormone receptor binding|protein kinase binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding	g.chr10:114903764G>A	X62871	CCDS7576.1, CCDS53578.1, CCDS55729.1, CCDS73196.1, CCDS73197.1, CCDS73198.1	10q25.3	2006-11-24			ENSG00000148737	ENSG00000148737			11641	protein-coding gene	gene with protein product		602228		TCF4		1741298	Standard	NM_001146283		Approved	TCF-4	uc001lae.4	Q9NQB0	OTTHUMG00000019070	ENST00000355995.4:c.768G>A	10.37:g.114903764G>A						TCF7L2_ENST00000538897.1_Silent_p.P256P|TCF7L2_ENST00000369389.1_5'UTR|TCF7L2_ENST00000355717.4_Silent_p.P280P|TCF7L2_ENST00000369395.1_Silent_p.P281P|TCF7L2_ENST00000542695.1_5'UTR|TCF7L2_ENST00000534894.1_Silent_p.P256P|TCF7L2_ENST00000355995.4_Silent_p.P256P|TCF7L2_ENST00000352065.5_Silent_p.P233P|TCF7L2_ENST00000543371.1_Silent_p.P256P|TCF7L2_ENST00000369397.4_Silent_p.P233P|TCF7L2_ENST00000349937.2_Silent_p.P256P|TCF7L2_ENST00000536810.1_Silent_p.P256P	p.P256P			Q9NQB0	TF7L2_HUMAN		Epithelial(162;0.00554)|all cancers(201;0.02)	7	1275	+		Breast(234;0.058)|Colorectal(252;0.0615)	256			Mediates interaction with MAD2L2.|Pro-rich.		B4DRJ8|B9X074|C6ZRJ8|C6ZRK0|E2GH14|E2GH19|E2GH20|E2GH24|E2GH25|E9PFH9|F8W742|F8W7T5|O00185|Q9NQB1|Q9NQB2|Q9NQB3|Q9NQB4|Q9NQB5|Q9NQB6|Q9NQB7|Q9ULC2	Silent	SNP	ENST00000355995.4	37	c.768G>A																																																																																					0.463	TCF7L2-203	KNOWN	basic	protein_coding	protein_coding		NM_030756		16	25	0	0	0	1	0	16	25					A	114903764	G	A	114903764	2	1	435	1	0	0	0	0	0	0	0	1	15695	1074	38	1		1	TCF7L2	10	114903764	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	721660	114903764	20630983	4860	25785											
NRAP	4892	broad.mit.edu	37	chr10	115366002	115366002	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cagacccagggtcattgtatActcgtgtcttgcatcctctc	7	13	8	13	1	3	1	1	0	2	1	6	1	4	1	2	1	2	2	2	1	2	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:115366002A>G	ENST00000359988.3	-	33	3986	c.3742T>C	c.(3742-3744)Tat>Cat	p.Y1248H	NRAP_ENST00000360478.3_Missense_Mutation_p.Y1213H|NRAP_ENST00000369358.4_Missense_Mutation_p.Y1256H|NRAP_ENST00000369360.3_Missense_Mutation_p.Y1221H	NM_001261463.1|NM_198060.3	NP_001248392.1|NP_932326.2			nebulin-related anchoring protein											autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Colorectal(252;0.0233)|Breast(234;0.188)		Epithelial(162;0.00392)|all cancers(201;0.00569)		GTCATTGTATACTCGTGTCTT	0.443																																						ENST00000369358.4																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	95						c.(3766-3768)Tat>Cat		nebulin-related anchoring protein							149	141	143					10																	115366002		2203	4300	6503	SO:0001583	missense	4892					fascia adherens|muscle tendon junction	actin binding|muscle alpha-actinin binding|zinc ion binding	g.chr10:115366002A>G		CCDS7578.1, CCDS7579.1, CCDS73199.1	10q24-q26	2008-08-01			ENSG00000197893	ENSG00000197893			7988	protein-coding gene	gene with protein product		602873				12789664, 10320340	Standard	NM_006175		Approved		uc001lal.4	Q86VF7	OTTHUMG00000019072	ENST00000359988.3:c.3742T>C	10.37:g.115366002A>G	ENSP00000353078:p.Tyr1248His					NRAP_ENST00000360478.3_Missense_Mutation_p.Y1213H|NRAP_ENST00000359988.3_Missense_Mutation_p.Y1248H|NRAP_ENST00000369360.3_Missense_Mutation_p.Y1221H	p.Y1256H			Q86VF7	NRAP_HUMAN		Epithelial(162;0.00392)|all cancers(201;0.00569)	33	4010	-		Colorectal(252;0.0233)|Breast(234;0.188)	1248						Missense_Mutation	SNP	ENST00000359988.3	37	c.3766T>C	CCDS7579.1	.	.	.	.	.	.	.	.	.	.	A	19.98	3.926755	0.73327	.	.	ENSG00000197893	ENST00000369358;ENST00000369360;ENST00000359988;ENST00000360478	T;T;T;T	0.36878	1.47;1.34;1.27;1.23	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	T	0.66177	0.2763	M	0.88105	2.93	0.38388	D	0.945318	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;0.999	T	0.75709	-0.3223	10	0.87932	D	0	.	14.4408	0.67314	1.0:0.0:0.0:0.0	.	1248;1213;1248	A0AVL2;Q86VF7-4;Q86VF7	.;.;NRAP_HUMAN	H	1256;1221;1248;1213	ENSP00000358365:Y1256H;ENSP00000358367:Y1221H;ENSP00000353078:Y1248H;ENSP00000353666:Y1213H	ENSP00000353078:Y1248H	Y	-	1	0	NRAP	115355992	1.000000	0.71417	1.000000	0.80357	0.852000	0.48524	6.073000	0.71245	2.152000	0.67230	0.533000	0.62120	TAT		0.443	NRAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050425.2	NM_006175		29	50	0	0	0	1	0	29	50					G	115366002	A	G	115366002	3	3	435	1	0	0	0	0	1	0	0	0	10638	391	14	4	1490	4	NRAP	10	115366002	Missense_Mutation	SNP	A	TCGA-XK-AAIW-01A-11D-A41K-08	462238	115366002	20168745	4861	25786											
NRAP	4892	broad.mit.edu	37	chr10	115391684	115391684	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atccagcttcatctcaaatcCtttcccctttgtcttctccc	6	16	2	17	0	4	0	2	0	3	0	9	0	7	0	5	0	1	1	5	0	1	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:115391684C>T	ENST00000359988.3	-	17	1916	c.1672G>A	c.(1672-1674)Gga>Aga	p.G558R	NRAP_ENST00000360478.3_Missense_Mutation_p.G523R|NRAP_ENST00000369358.4_Missense_Mutation_p.G558R|NRAP_ENST00000369360.3_Missense_Mutation_p.G523R	NM_001261463.1|NM_198060.3	NP_001248392.1|NP_932326.2			nebulin-related anchoring protein											autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Colorectal(252;0.0233)|Breast(234;0.188)		Epithelial(162;0.00392)|all cancers(201;0.00569)		ATCTCAAATCCTTTCCCCTTT	0.463																																						ENST00000369358.4																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	95						c.(1672-1674)Gga>Aga		nebulin-related anchoring protein							156	141	146					10																	115391684		2203	4300	6503	SO:0001583	missense	4892					fascia adherens|muscle tendon junction	actin binding|muscle alpha-actinin binding|zinc ion binding	g.chr10:115391684C>T		CCDS7578.1, CCDS7579.1, CCDS73199.1	10q24-q26	2008-08-01			ENSG00000197893	ENSG00000197893			7988	protein-coding gene	gene with protein product		602873				12789664, 10320340	Standard	NM_006175		Approved		uc001lal.4	Q86VF7	OTTHUMG00000019072	ENST00000359988.3:c.1672G>A	10.37:g.115391684C>T	ENSP00000353078:p.Gly558Arg					NRAP_ENST00000360478.3_Missense_Mutation_p.G523R|NRAP_ENST00000359988.3_Missense_Mutation_p.G558R|NRAP_ENST00000369360.3_Missense_Mutation_p.G523R	p.G558R			Q86VF7	NRAP_HUMAN		Epithelial(162;0.00392)|all cancers(201;0.00569)	17	1916	-		Colorectal(252;0.0233)|Breast(234;0.188)	558						Missense_Mutation	SNP	ENST00000359988.3	37	c.1672G>A	CCDS7579.1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.347677	0.82022	.	.	ENSG00000197893	ENST00000369358;ENST00000369360;ENST00000359988;ENST00000360478;ENST00000369350;ENST00000369343	T;T;T;T	0.19250	2.45;2.43;2.24;2.16	5.52	5.52	0.82312	.	0.056164	0.64402	D	0.000001	T	0.48223	0.1488	M	0.71036	2.16	0.41736	D	0.989586	D;D;D	0.71674	0.998;0.997;0.996	D;D;D	0.71656	0.974;0.962;0.924	T	0.47045	-0.9147	10	0.66056	D	0.02	.	19.5136	0.95154	0.0:1.0:0.0:0.0	.	558;523;558	A0AVL2;Q86VF7-4;Q86VF7	.;.;NRAP_HUMAN	R	558;523;558;523;287;287	ENSP00000358365:G558R;ENSP00000358367:G523R;ENSP00000353078:G558R;ENSP00000353666:G523R	ENSP00000353078:G558R	G	-	1	0	NRAP	115381674	0.684000	0.27642	1.000000	0.80357	0.985000	0.73830	2.725000	0.47294	2.609000	0.88269	0.580000	0.79431	GGA		0.463	NRAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050425.2	NM_006175		23	31	0	0	0	1	0	23	31					T	115391684	C	T	115391684	3	4	435	1	0	0	0	0	1	0	0	0	10638	690	24	3	3624	3	NRAP	10	115391684	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	25682	115391684	20143063	4862	25787											
TDRD1	56165	broad.mit.edu	37	chr10	115982440	115982440	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatagaccaagaattggagaCgcatgctgtgccaaatacac	15	8	9	9	1	0	3	0	0	0	3	0	4	0	3	2	1	3	2	2	1	6	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:115982440C>T	ENST00000369280.1	+	21	3445	c.2985C>T	c.(2983-2985)gaC>gaT	p.D995D	TDRD1_ENST00000251864.2_Silent_p.D995D|TDRD1_ENST00000422662.1_Silent_p.D599D|TDRD1_ENST00000369282.1_Silent_p.D995D|TDRD1_ENST00000369281.2_Silent_p.D881D			Q9BXT4	TDRD1_HUMAN	tudor domain containing 1	995	Tudor 4. {ECO:0000255|PROSITE- ProRule:PRU00211}.				DNA methylation involved in gamete generation (GO:0043046)|gene silencing by RNA (GO:0031047)|germ cell development (GO:0007281)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|piRNA metabolic process (GO:0034587)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|P granule (GO:0043186)|pi-body (GO:0071546)	metal ion binding (GO:0046872)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(5)	48		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0343)|all cancers(201;0.0754)		GAATTGGAGACGCATGCTGTG	0.373																																						ENST00000251864.2																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(5)	48						c.(2983-2985)gaC>gaT		tudor domain containing 1							89	89	89					10																	115982440		2203	4300	6503	SO:0001819	synonymous_variant	56165				DNA methylation involved in gamete generation|gene silencing by RNA|germ cell development|meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	pi-body	nucleic acid binding|protein binding|zinc ion binding	g.chr10:115982440C>T	AF285606	CCDS7588.1	10q26.11	2013-01-23			ENSG00000095627	ENSG00000095627		"Tudor domain containing"	11712	protein-coding gene	gene with protein product	"cancer/testis antigen 41.1"	605796				11279525	Standard	NM_198795		Approved	CT41.1	uc001lbg.1	Q9BXT4	OTTHUMG00000019083	ENST00000369280.1:c.2985C>T	10.37:g.115982440C>T						TDRD1_ENST00000422662.1_Silent_p.D599D|TDRD1_ENST00000369280.1_Silent_p.D995D|TDRD1_ENST00000369281.2_Silent_p.D881D|TDRD1_ENST00000369282.1_Silent_p.D995D	p.D995D	NM_198795.1	NP_942090.1	Q9BXT4	TDRD1_HUMAN		Epithelial(162;0.0343)|all cancers(201;0.0754)	21	3138	+		Colorectal(252;0.172)|Breast(234;0.188)	995			Tudor 4.		A6NEN3|A6NMN2|B3KVI4|B4E2L5|D3DRC2|Q4G0Y8|Q6P518|Q9H7B3	Silent	SNP	ENST00000369280.1	37	c.2985C>T																																																																																					0.373	TDRD1-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000050457.2			27	46	0	0	0	1	0	27	46					T	115982440	C	T	115982440	2	4	435	1	0	0	0	0	0	0	0	1	15727	535	19	1		1	TDRD1	10	115982440	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	590756	115982440	19552307	4863	25788											
TDRD1	56165	broad.mit.edu	37	chr10	115987859	115987859	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcaaccaatcaaaataaattTattgaaatgaaaaaactgtt	21	12	3	5	0	2	2	2	2	0	0	2	2	2	2	1	0	2	1	1	0	11	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:115987859T>C	ENST00000369280.1	+	24	3745	c.3285T>C	c.(3283-3285)ttT>ttC	p.F1095F	TDRD1_ENST00000251864.2_Silent_p.F1171F|TDRD1_ENST00000422662.1_Silent_p.F699F|TDRD1_ENST00000369282.1_Silent_p.F1095F|TDRD1_ENST00000369281.2_Silent_p.F1057F			Q9BXT4	TDRD1_HUMAN	tudor domain containing 1	1085					DNA methylation involved in gamete generation (GO:0043046)|gene silencing by RNA (GO:0031047)|germ cell development (GO:0007281)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|piRNA metabolic process (GO:0034587)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|P granule (GO:0043186)|pi-body (GO:0071546)	metal ion binding (GO:0046872)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(5)	48		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0343)|all cancers(201;0.0754)		AAAATAAATTTATTGAAATGA	0.303																																						ENST00000251864.2																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(5)	48						c.(3511-3513)ttT>ttC		tudor domain containing 1							18	19	19					10																	115987859		2172	4276	6448	SO:0001819	synonymous_variant	56165				DNA methylation involved in gamete generation|gene silencing by RNA|germ cell development|meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	pi-body	nucleic acid binding|protein binding|zinc ion binding	g.chr10:115987859T>C	AF285606	CCDS7588.1	10q26.11	2013-01-23			ENSG00000095627	ENSG00000095627		"Tudor domain containing"	11712	protein-coding gene	gene with protein product	"cancer/testis antigen 41.1"	605796				11279525	Standard	NM_198795		Approved	CT41.1	uc001lbg.1	Q9BXT4	OTTHUMG00000019083	ENST00000369280.1:c.3285T>C	10.37:g.115987859T>C						TDRD1_ENST00000422662.1_Silent_p.F699F|TDRD1_ENST00000369280.1_Silent_p.F1095F|TDRD1_ENST00000369281.2_Silent_p.F1057F|TDRD1_ENST00000369282.1_Silent_p.F1095F	p.F1171F	NM_198795.1	NP_942090.1	Q9BXT4	TDRD1_HUMAN		Epithelial(162;0.0343)|all cancers(201;0.0754)	25	3666	+		Colorectal(252;0.172)|Breast(234;0.188)	1171					A6NEN3|A6NMN2|B3KVI4|B4E2L5|D3DRC2|Q4G0Y8|Q6P518|Q9H7B3	Silent	SNP	ENST00000369280.1	37	c.3513T>C																																																																																					0.303	TDRD1-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000050457.2			6	11	0	0	0	1	0	6	11					C	115987859	T	C	115987859	2	2	435	1	0	0	0	0	0	0	0	1	15727	1751	61	4		4	TDRD1	10	115987859	Silent	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	5419	115987859	19546888	4864	25789											
VWA2	340706	broad.mit.edu	37	chr10	116046009	116046009	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagagcgtggcttcgggagcGccaccaggacaggccaggac	9	3	16	13	3	0	1	0	0	0	1	1	4	0	4	3	5	2	1	3	5	0	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:116046009G>A	ENST00000392982.3	+	11	1559	c.1309G>A	c.(1309-1311)Gcc>Acc	p.A437T	VWA2_ENST00000603594.1_Missense_Mutation_p.A437T			Q5GFL6	VWA2_HUMAN	von Willebrand factor A domain containing 2	437	VWFA 2. {ECO:0000255|PROSITE- ProRule:PRU00219}.				calcium-independent cell-matrix adhesion (GO:0007161)|protein homooligomerization (GO:0051260)|regulation of insulin receptor signaling pathway (GO:0046626)	basement membrane (GO:0005604)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	identical protein binding (GO:0042802)			central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)	26				Epithelial(162;0.036)|all cancers(201;0.0793)		CTTCGGGAGCGCCACCAGGAC	0.677																																						ENST00000603594.1																			0				central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)	26						c.(1309-1311)Gcc>Acc		von Willebrand factor A domain containing 2							58	49	52					10																	116046009		2203	4299	6502	SO:0001583	missense	340706					extracellular region		g.chr10:116046009G>A	AK127756	CCDS7589.1, CCDS7589.2	10q25.3	2009-11-06			ENSG00000165816	ENSG00000165816			24709	protein-coding gene	gene with protein product						15580307, 14506275	Standard	NM_001272046		Approved	FLJ45857, FLJ16213, CCSP-2, AMACO, NET42	uc001lbl.2	Q5GFL6	OTTHUMG00000019082	ENST00000392982.3:c.1309G>A	10.37:g.116046009G>A	ENSP00000376708:p.Ala437Thr					VWA2_ENST00000392982.3_Missense_Mutation_p.A437T	p.A437T	NM_001272046.1	NP_001258975.1	Q5GFL6	VWA2_HUMAN		Epithelial(162;0.036)|all cancers(201;0.0793)	11	1630	+			437			VWFA 2.		A1A5D4|B5MDJ8|Q6ZS39|Q6ZWJ7|Q708C5|Q70UZ8	Missense_Mutation	SNP	ENST00000392982.3	37	c.1309G>A		.	.	.	.	.	.	.	.	.	.	G	5.786	0.329306	0.10956	.	.	ENSG00000165816	ENST00000392982;ENST00000298715	T	0.78246	-1.16	5.6	3.42	0.39159	von Willebrand factor, type A (3);	0.334636	0.32204	N	0.006428	T	0.59582	0.2204	N	0.21097	0.63	0.09310	N	1	B;B;B	0.23650	0.035;0.089;0.015	B;B;B	0.18871	0.011;0.023;0.01	T	0.45145	-0.9281	10	0.29301	T	0.29	.	6.6945	0.23191	0.2075:0.0:0.6485:0.144	.	133;437;437	Q5GFL6-3;Q5GFL6;Q5GFL6-2	.;VWA2_HUMAN;.	T	437	ENSP00000376708:A437T	ENSP00000298715:A437T	A	+	1	0	VWA2	116035999	0.000000	0.05858	0.397000	0.26308	0.070000	0.16714	0.224000	0.17738	1.363000	0.46019	0.563000	0.77884	GCC		0.677	VWA2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000050456.3	NM_198496		22	22	0	0	0	1	0	22	22					A	116046009	G	A	116046009	3	1	435	1	0	0	0	0	1	0	0	0	17236	1087	38	1	1347	1	VWA2	10	116046009	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	58150	116046009	19488738	4865	25790											
ABLIM1	3983	broad.mit.edu	37	chr10	116207736	116207736	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gctgctgggaacttggaaaaCttgatgatatcttctgagga	11	12	12	6	0	2	3	0	3	2	0	2	6	2	6	0	3	3	2	0	3	4	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:116207736C>T	ENST00000277895.5	-	15	1735	c.1638G>A	c.(1636-1638)aaG>aaA	p.K546K	ABLIM1_ENST00000369252.4_Silent_p.K486K|ABLIM1_ENST00000369266.3_Silent_p.K223K|ABLIM1_ENST00000392952.3_Silent_p.K223K|ABLIM1_ENST00000369253.2_Silent_p.K169K|ABLIM1_ENST00000533213.2_Silent_p.K486K	NM_002313.5	NP_002304.3	O14639	ABLM1_HUMAN	actin binding LIM protein 1	546					axon guidance (GO:0007411)|cilium assembly (GO:0042384)|cytoskeleton organization (GO:0007010)|lamellipodium assembly (GO:0030032)|organ morphogenesis (GO:0009887)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|visual perception (GO:0007601)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|lamellipodium (GO:0030027)|stress fiber (GO:0001725)	actin binding (GO:0003779)|zinc ion binding (GO:0008270)			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	30		Colorectal(252;0.0373)|Breast(234;0.231)		Epithelial(162;0.0132)|all cancers(201;0.0383)		ACTTGGAAAACTTGATGATAT	0.542																																						ENST00000369252.4																			0				breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	30						c.(1456-1458)aaG>aaA		actin binding LIM protein 1							142	126	132					10																	116207736		2203	4300	6503	SO:0001819	synonymous_variant	3983				axon guidance|cytoskeleton organization|organ morphogenesis|visual perception	actin cytoskeleton|cytoplasm	actin binding|zinc ion binding	g.chr10:116207736C>T	AF005654	CCDS7590.1, CCDS31289.1	10q25	2008-07-07		2002-09-13	ENSG00000099204	ENSG00000099204			78	protein-coding gene	gene with protein product		602330		LIMAB1, ABLIM		9245787	Standard	NM_002313		Approved	abLIM, limatin	uc021pyw.1	O14639	OTTHUMG00000019088	ENST00000277895.5:c.1638G>A	10.37:g.116207736C>T						ABLIM1_ENST00000369266.3_Silent_p.K223K|ABLIM1_ENST00000533213.2_Silent_p.K486K|ABLIM1_ENST00000277895.5_Silent_p.K546K|ABLIM1_ENST00000392952.3_Silent_p.K223K|ABLIM1_ENST00000369253.2_Silent_p.K169K	p.K486K	NM_001003407.1|NM_001003408.1	NP_001003407.1|NP_001003408.1	O14639	ABLM1_HUMAN		Epithelial(162;0.0132)|all cancers(201;0.0383)	15	1759	-		Colorectal(252;0.0373)|Breast(234;0.231)	546					A6NI16|A6NJ06|A8MXA9|B3KVH2|Q15039|Q5JVV1|Q5JVV2|Q5T6N2|Q5T6N3|Q5T6N5|Q68CQ9|Q9BUP1	Silent	SNP	ENST00000277895.5	37	c.1458G>A	CCDS7590.1	.	.	.	.	.	.	.	.	.	.	C	10.15	1.272210	0.23221	.	.	ENSG00000099204	ENST00000392955	.	.	.	5.83	5.83	0.93111	.	.	.	.	.	T	0.65512	0.2698	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.62666	-0.6806	4	.	.	.	.	13.3387	0.60533	0.0:0.9282:0.0:0.0718	.	.	.	.	N	420	.	.	S	-	2	0	ABLIM1	116197726	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.125000	0.50469	2.749000	0.94314	0.655000	0.94253	AGT		0.542	ABLIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050469.3			13	41	0	0	0	1	0	13	41					T	116207736	C	T	116207736	2	4	435	1	0	0	0	0	0	0	0	1	94	564	20	3		3	ABLIM1	10	116207736	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	161727	116207736	19327011	4866	25791											
ABLIM1	3983	broad.mit.edu	37	chr10	116307451	116307451	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggaccttcccgcaggacttgCatttaaagcaccccaagtgc	10	8	9	14	1	0	0	0	0	0	0	1	2	1	2	4	2	3	3	4	2	3	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:116307451C>T	ENST00000277895.5	-	5	855	c.758G>A	c.(757-759)tGc>tAc	p.C253Y	ABLIM1_ENST00000369252.4_Missense_Mutation_p.C193Y|ABLIM1_ENST00000533213.2_Missense_Mutation_p.C193Y	NM_002313.5	NP_002304.3	O14639	ABLM1_HUMAN	actin binding LIM protein 1	253	LIM zinc-binding 3. {ECO:0000255|PROSITE- ProRule:PRU00125}.				axon guidance (GO:0007411)|cilium assembly (GO:0042384)|cytoskeleton organization (GO:0007010)|lamellipodium assembly (GO:0030032)|organ morphogenesis (GO:0009887)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|visual perception (GO:0007601)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|lamellipodium (GO:0030027)|stress fiber (GO:0001725)	actin binding (GO:0003779)|zinc ion binding (GO:0008270)			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	30		Colorectal(252;0.0373)|Breast(234;0.231)		Epithelial(162;0.0132)|all cancers(201;0.0383)		GCAGGACTTGCATTTAAAGCA	0.587																																						ENST00000369252.4																			0				breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	30						c.(577-579)tGc>tAc		actin binding LIM protein 1							68	61	63					10																	116307451		2203	4300	6503	SO:0001583	missense	3983				axon guidance|cytoskeleton organization|organ morphogenesis|visual perception	actin cytoskeleton|cytoplasm	actin binding|zinc ion binding	g.chr10:116307451C>T	AF005654	CCDS7590.1, CCDS31289.1	10q25	2008-07-07		2002-09-13	ENSG00000099204	ENSG00000099204			78	protein-coding gene	gene with protein product		602330		LIMAB1, ABLIM		9245787	Standard	NM_002313		Approved	abLIM, limatin	uc021pyw.1	O14639	OTTHUMG00000019088	ENST00000277895.5:c.758G>A	10.37:g.116307451C>T	ENSP00000277895:p.Cys253Tyr					ABLIM1_ENST00000533213.2_Missense_Mutation_p.C193Y|ABLIM1_ENST00000277895.5_Missense_Mutation_p.C253Y	p.C193Y	NM_001003407.1|NM_001003408.1	NP_001003407.1|NP_001003408.1	O14639	ABLM1_HUMAN		Epithelial(162;0.0132)|all cancers(201;0.0383)	5	879	-		Colorectal(252;0.0373)|Breast(234;0.231)	253			LIM zinc-binding 2.		A6NI16|A6NJ06|A8MXA9|B3KVH2|Q15039|Q5JVV1|Q5JVV2|Q5T6N2|Q5T6N3|Q5T6N5|Q68CQ9|Q9BUP1	Missense_Mutation	SNP	ENST00000277895.5	37	c.578G>A	CCDS7590.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	32|32	5.126159|5.126159	0.94429|0.94429	.|.	.|.	ENSG00000099204|ENSG00000099204	ENST00000392955|ENST00000336585;ENST00000369252;ENST00000369267;ENST00000533213;ENST00000369262;ENST00000369263;ENST00000369256;ENST00000369260;ENST00000277895	.|D;D;D	.|0.99898	.|-7.61;-7.61;-7.61	5.53|5.53	5.53|5.53	0.82687|0.82687	.|Zinc finger, LIM-type (5);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.99939|0.99939	0.9973|0.9973	H|H	0.99090|0.99090	4.425|4.425	0.80722|0.80722	D|D	1|1	.|D;D;D;D;D;D	.|0.89917	.|1.0;1.0;1.0;1.0;1.0;1.0	.|D;D;D;D;D;D	.|0.97110	.|1.0;0.999;1.0;1.0;0.999;1.0	D|D	0.96006|0.96006	0.8997|0.8997	5|10	.|0.87932	.|D	.|0	.|.	19.4536|19.4536	0.94878|0.94878	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|177;193;193;253;193;177	.|B7Z4H1;F8W8M4;A6NKJ2;O14639;B3KVH2;C9K0X4	.|.;.;.;ABLM1_HUMAN;.;.	T|Y	162|253;193;193;193;253;177;177;177;253	.|ENSP00000358256:C193Y;ENSP00000433629:C193Y;ENSP00000277895:C253Y	.|ENSP00000277895:C253Y	A|C	-|-	1|2	0|0	ABLIM1|ABLIM1	116297441|116297441	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	7.640000|7.640000	0.83355|0.83355	2.621000|2.621000	0.88768|0.88768	0.561000|0.561000	0.74099|0.74099	GCA|TGC		0.587	ABLIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050469.3			16	20	0	0	0	1	0	16	20					T	116307451	C	T	116307451	3	4	435	1	0	0	0	0	1	0	0	0	94	710	25	3	1738	3	ABLIM1	10	116307451	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	99715	116307451	19227296	4867	25792											
FAM160B1	57700	broad.mit.edu	37	chr10	116621019	116621019	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaccttatgcttcgaatccaGcgtattcaagactttactcc	10	13	6	12	2	1	1	1	0	0	1	4	3	3	1	3	0	3	2	3	0	5	6			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:116621019G>T	ENST00000369248.4	+	16	2453	c.2118G>T	c.(2116-2118)caG>caT	p.Q706H	FAM160B1_ENST00000369250.3_Missense_Mutation_p.Q706H	NM_020940.3	NP_065991.3	Q5W0V3	F16B1_HUMAN	family with sequence similarity 160, member B1	706										NS(1)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(5)|lung(13)	25						TTCGAATCCAGCGTATTCAAG	0.418																																						ENST00000369248.4																			0				NS(1)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(5)|lung(13)	25						c.(2116-2118)caG>caT		family with sequence similarity 160, member B1							146	128	134					10																	116621019		2203	4300	6503	SO:0001583	missense	57700							g.chr10:116621019G>T	AB046820	CCDS31290.1, CCDS44480.1	10q26.11	2008-06-05	2008-06-05	2008-06-05	ENSG00000151553	ENSG00000151553			29320	protein-coding gene	gene with protein product			"KIAA1600"	KIAA1600		10997877	Standard	NM_020940		Approved	bA106M7.3	uc001lcb.3	Q5W0V3	OTTHUMG00000019092	ENST00000369248.4:c.2118G>T	10.37:g.116621019G>T	ENSP00000358251:p.Gln706His					FAM160B1_ENST00000369250.3_Missense_Mutation_p.Q706H	p.Q706H	NM_020940.3	NP_065991.3	Q5W0V3	F16B1_HUMAN			16	2453	+			706					Q5H9P7|Q5W0V2|Q8IY76|Q9HCH2	Missense_Mutation	SNP	ENST00000369248.4	37	c.2118G>T	CCDS31290.1	.	.	.	.	.	.	.	.	.	.	G	18.26	3.583807	0.65992	.	.	ENSG00000151553	ENST00000369248;ENST00000369250;ENST00000411414	T;T;T	0.53206	0.63;0.63;0.63	5.56	3.69	0.42338	.	0.050279	0.85682	D	0.000000	T	0.38639	0.1048	L	0.34521	1.04	0.80722	D	1	B;B	0.24258	0.1;0.008	B;B	0.31547	0.132;0.006	T	0.32428	-0.9907	10	0.52906	T	0.07	-18.2468	10.6975	0.45907	0.2074:0.0:0.7926:0.0	.	706;706	Q5W0V3-2;Q5W0V3	.;F16B1_HUMAN	H	706;706;43	ENSP00000358251:Q706H;ENSP00000358253:Q706H;ENSP00000411924:Q43H	ENSP00000358251:Q706H	Q	+	3	2	FAM160B1	116611009	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	2.571000	0.45990	1.352000	0.45808	0.591000	0.81541	CAG		0.418	FAM160B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050499.1	XM_049351		18	43	1	0	0.204396	1	0.204795	18	43					T	116621019	G	T	116621019	3	4	435	1	0	0	0	0	1	0	0	0	5470	962	34	5	2180	5	FAM160B1	10	116621019	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	313568	116621019	18913728	4868	25793											
ATRNL1	26033	broad.mit.edu	37	chr10	117061448	117061448	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	actgtacaagcaatggcatgGagtgtatgtggtgcagcagt	11	10	14	6	0	0	0	0	0	0	0	0	1	0	1	0	3	4	6	0	3	4	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:117061448G>A	ENST00000355044.3	+	17	2839	c.2713G>A	c.(2713-2715)Gag>Aag	p.E905K	ATRNL1_ENST00000423111.2_Missense_Mutation_p.E2K|ATRNL1_ENST00000303745.7_5'Flank	NM_207303.2	NP_997186.1	Q5VV63	ATRN1_HUMAN	attractin-like 1	905	PSI 4.				G-protein coupled receptor signaling pathway (GO:0007186)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)		CAATGGCATGGAGTGTATGTG	0.433																																						ENST00000355044.3																			0				NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95						c.(2713-2715)Gag>Aag		attractin-like 1							269	193	219					10																	117061448		2203	4300	6503	SO:0001583	missense	26033					integral to membrane	sugar binding	g.chr10:117061448G>A	AB011106	CCDS7592.1, CCDS73204.1	10q26	2004-03-04			ENSG00000107518	ENSG00000107518			29063	protein-coding gene	gene with protein product		612869				9628581	Standard	NM_001276282		Approved	KIAA0534, FLJ45344, ALP	uc001lcg.3	Q5VV63	OTTHUMG00000019096	ENST00000355044.3:c.2713G>A	10.37:g.117061448G>A	ENSP00000347152:p.Glu905Lys					ATRNL1_ENST00000423111.2_Missense_Mutation_p.E2K	p.E905K	NM_207303.2	NP_997186.1	Q5VV63	ATRN1_HUMAN		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)	17	2839	+		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)	905			PSI 4.		O60283|Q5JSE8|Q5T5Y9|Q6T256|Q6ZSN4|Q86WX2	Missense_Mutation	SNP	ENST00000355044.3	37	c.2713G>A	CCDS7592.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	36|36	5.807623|5.807623	0.96967|0.96967	.|.	.|.	ENSG00000107518|ENSG00000107518	ENST00000355044;ENST00000423111|ENST00000526373	T;T|.	0.25749|.	2.27;1.78|.	5.64|5.64	5.64|5.64	0.86602|0.86602	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.77525|0.77525	0.4143|0.4143	M|M	0.73962|0.73962	2.25|2.25	0.80722|0.80722	D|D	1|1	D;D|.	0.76494|.	0.997;0.999|.	D;D|.	0.81914|.	0.98;0.995|.	T|T	0.76113|0.76113	-0.3078|-0.3078	10|5	0.72032|.	D|.	0.01|.	-8.7149|-8.7149	19.7031|19.7031	0.96063|0.96063	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	2;905|.	B4DH41;Q5VV63|.	.;ATRN1_HUMAN|.	K|E	905;2|34	ENSP00000347152:E905K;ENSP00000409624:E2K|.	ENSP00000347152:E905K|.	E|G	+|+	1|2	0|0	ATRNL1|ATRNL1	117051438|117051438	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.989000|0.989000	0.77384|0.77384	9.754000|9.754000	0.98908|0.98908	2.664000|2.664000	0.90586|0.90586	0.591000|0.591000	0.81541|0.81541	GAG|GGA		0.433	ATRNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050507.3	XM_049349		23	40	0	0	0	1	0	23	40					A	117061448	G	A	117061448	3	1	435	1	0	0	0	0	1	0	0	0	1207	1175	41	3	2779	3	ATRNL1	10	117061448	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	440429	117061448	18473299	4869	25794											
GFRA1	2674	broad.mit.edu	37	chr10	118030617	118030617	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgccgctcacttcggccgaCaggagcaagtctgcggggca	7	5	14	15	5	2	0	1	0	1	0	3	2	2	1	3	4	2	3	3	4	1	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:118030617C>T	ENST00000355422.6	-	3	601	c.51G>A	c.(49-51)ctG>ctA	p.L17L	GFRA1_ENST00000439649.3_Silent_p.L17L|GFRA1_ENST00000369236.1_Silent_p.L17L|GFRA1_ENST00000490345.1_5'Flank	NM_005264.4	NP_005255.1	P56159	GFRA1_HUMAN	GDNF family receptor alpha 1	17					axon guidance (GO:0007411)|cell surface receptor signaling pathway (GO:0007166)|glial cell-derived neurotrophic factor receptor signaling pathway (GO:0035860)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|plasma membrane (GO:0005886)	glial cell-derived neurotrophic factor receptor activity (GO:0016167)|receptor binding (GO:0005102)			endometrium(2)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)	26		Lung NSC(174;0.21)		all cancers(201;0.0337)		CTTCGGCCGACAGGAGCAAGT	0.711																																					Ovarian(128;329 1725 45498 46808 50759)	ENST00000439649.3																			0				endometrium(2)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)	26						c.(49-51)ctG>ctA		GDNF family receptor alpha 1							26	24	25					10																	118030617		2202	4297	6499	SO:0001819	synonymous_variant	2674				axon guidance	anchored to membrane|extrinsic to membrane|plasma membrane	glial cell-derived neurotrophic factor receptor activity	g.chr10:118030617C>T	AF038421	CCDS7593.1, CCDS44481.1	10q25-q26	2011-01-25			ENSG00000151892	ENSG00000151892			4243	protein-coding gene	gene with protein product		601496		GDNFRA		9465905, 9545641	Standard	NM_005264		Approved	RETL1, GDNFR, GFR-ALPHA-1, RET1L, TRNR1	uc001lcj.3	P56159	OTTHUMG00000019097	ENST00000355422.6:c.51G>A	10.37:g.118030617C>T						GFRA1_ENST00000355422.6_Silent_p.L17L|GFRA1_ENST00000369236.1_Silent_p.L17L	p.L17L	NM_001145453.1	NP_001138925.1	P56159	GFRA1_HUMAN		all cancers(201;0.0337)	3	418	-		Lung NSC(174;0.21)	17					A8KA21|O15507|O43912	Silent	SNP	ENST00000355422.6	37	c.51G>A	CCDS44481.1																																																																																				0.711	GFRA1-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050512.2	NM_145793		11	14	0	0	0	1	0	11	14					T	118030617	C	T	118030617	2	4	435	1	0	0	0	0	0	0	0	1	6347	465	17	3		3	GFRA1	10	118030617	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	969169	118030617	17504130	4870	25795											
C10orf96	374355	broad.mit.edu	37	chr10	118100254	118100255	+	Frame_Shift_Ins	INS	-	-	T																															gtactttgaaggttcaacagINSttttttgaaaaatccttctt																										TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:118100254_118100255insT	ENST00000333254.3	+	4	425_426	c.174_175insT	c.(175-177)tttfs	p.F59fs	CCDC172_ENST00000497093.1_Intron	NM_198515.2	NP_940917.1	P0C7W6	CC172_HUMAN	coiled-coil domain containing 172	59																	AGGTTCAACAGTTTTTTGAAAA	0.287																																						ENST00000333254.3																			0											c.(172-177)cattttfs		coiled-coil domain containing 172																																				SO:0001589	frameshift_variant	374355							g.chr10:118100254_118100255insT	BC044830	CCDS31291.1	10q26.11-q26.12	2012-05-31	2012-05-31	2012-05-31	ENSG00000182645	ENSG00000182645			30524	protein-coding gene	gene with protein product			"chromosome 10 open reading frame 96"	C10orf96		12477932	Standard	NM_198515		Approved	MGC35062	uc001lck.3	P0C7W6	OTTHUMG00000019098	ENST00000333254.3:c.180dupT	10.37:g.118100260_118100260dupT	ENSP00000329860:p.Phe59fs					CCDC172_ENST00000497093.1_Intron	p.HF58fs	NM_198515.2	NP_940917.1					4	425_426	+									Frame_Shift_Ins	INS	ENST00000333254.3	37	c.174_175insT	CCDS31291.1																																																																																				0.287	CCDC172-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050516.2	NM_198515		33	65						33	65	---	---	---	---	T	118100255	-	T	118100254	7	5	435	1	0	1	1	0	0	0	0	0	1627	1020	36	0	184	0	C10orf96	10	118100254	Frame_Shift_Ins	INS	-	TCGA-XK-AAIW-01A-11D-A41K-08	69637	118100254	17434493	4871	25796											
PNLIPRP3	119548	broad.mit.edu	37	chr10	118228729	118228729	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ttttgttccaaagaaggttgCccaacaatgggtcattttgc	10	14	9	8	0	1	1	1	0	0	1	2	1	2	1	2	2	3	2	2	2	4	6			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:118228729C>T	ENST00000369230.3	+	9	1106	c.960C>T	c.(958-960)tgC>tgT	p.C320C		NM_001011709.2	NP_001011709.2	Q17RR3	LIPR3_HUMAN	pancreatic lipase-related protein 3	320					lipid catabolic process (GO:0016042)	extracellular region (GO:0005576)	triglyceride lipase activity (GO:0004806)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(29)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50				all cancers(201;0.0131)		AAGAAGGTTGCCCAACAATGG	0.353																																						ENST00000369230.3																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(29)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50						c.(958-960)tgC>tgT		pancreatic lipase-related protein 3							79	80	80					10																	118228729		2203	4299	6502	SO:0001819	synonymous_variant	119548				lipid catabolic process	extracellular region	triglyceride lipase activity	g.chr10:118228729C>T	BC015840	CCDS31292.1	10q26.12	2014-03-14			ENSG00000203837	ENSG00000203837	3.1.1.3		23492	protein-coding gene	gene with protein product							Standard	NM_001011709		Approved		uc001lcl.4	Q17RR3	OTTHUMG00000019100	ENST00000369230.3:c.960C>T	10.37:g.118228729C>T							p.C320C	NM_001011709.2	NP_001011709.2	Q17RR3	LIPR3_HUMAN		all cancers(201;0.0131)	9	1106	+			320						Silent	SNP	ENST00000369230.3	37	c.960C>T	CCDS31292.1																																																																																				0.353	PNLIPRP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050520.1	XM_058404		8	55	0	0	0	1	0	8	55					T	118228729	C	T	118228729	2	4	435	1	0	0	0	0	0	0	0	1	12152	747	26	3		3	PNLIPRP3	10	118228729	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	128475	118228729	17306018	4872	25797											
PNLIPRP3	119548	broad.mit.edu	37	chr10	118231318	118231318	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctgttaaactcagtggaagcGaagtcactcaaggaactgtc	13	9	10	9	1	3	0	3	0	0	0	4	3	3	2	0	2	3	1	0	2	6	1	rs150059984		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:118231318G>A	ENST00000369230.3	+	10	1245	c.1099G>A	c.(1099-1101)Gaa>Aaa	p.E367K		NM_001011709.2	NP_001011709.2	Q17RR3	LIPR3_HUMAN	pancreatic lipase-related protein 3	367	PLAT.				lipid catabolic process (GO:0016042)	extracellular region (GO:0005576)	triglyceride lipase activity (GO:0004806)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(29)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50				all cancers(201;0.0131)		CAGTGGAAGCGAAGTCACTCA	0.448													G|||	1	0.000199681	0	0	5008	,	,		15303	0.001		0	False		,,,				2504	0					ENST00000369230.3																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(29)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50						c.(1099-1101)Gaa>Aaa		pancreatic lipase-related protein 3		G	LYS/GLU	0,4406		0,0,2203	203	209	207		1099	0.4	0	10	dbSNP_134	207	1,8599	1.2+/-3.3	0,1,4299	no	missense	PNLIPRP3	NM_001011709.2	56	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	367/468	118231318	1,13005	2203	4300	6503	SO:0001583	missense	119548				lipid catabolic process	extracellular region	triglyceride lipase activity	g.chr10:118231318G>A	BC015840	CCDS31292.1	10q26.12	2014-03-14			ENSG00000203837	ENSG00000203837	3.1.1.3		23492	protein-coding gene	gene with protein product							Standard	NM_001011709		Approved		uc001lcl.4	Q17RR3	OTTHUMG00000019100	ENST00000369230.3:c.1099G>A	10.37:g.118231318G>A	ENSP00000358232:p.Glu367Lys						p.E367K	NM_001011709.2	NP_001011709.2	Q17RR3	LIPR3_HUMAN		all cancers(201;0.0131)	10	1245	+			367			PLAT.			Missense_Mutation	SNP	ENST00000369230.3	37	c.1099G>A	CCDS31292.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	0.081	-1.184028	0.01620	0.0	1.16E-4	ENSG00000203837	ENST00000369230	T	0.70045	-0.45	4.18	0.423	0.16463	Lipoxygenase, LH2 (2);Lipase/lipooxygenase, PLAT/LH2 (1);	1.065190	0.07477	N	0.903222	T	0.33527	0.0866	N	0.02011	-0.69	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.24728	-1.0152	10	0.02654	T	1	.	8.0454	0.30547	0.5355:0.0:0.4645:0.0	.	367	Q17RR3	LIPR3_HUMAN	K	367	ENSP00000358232:E367K	ENSP00000358232:E367K	E	+	1	0	PNLIPRP3	118221308	0.001000	0.12720	0.001000	0.08648	0.002000	0.02628	0.240000	0.18042	-0.022000	0.13986	-1.076000	0.02234	GAA		0.448	PNLIPRP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050520.1	XM_058404		8	85	0	0	0	1	0	8	85					A	118231318	G	A	118231318	3	1	435	1	0	0	0	0	1	0	0	0	12152	1059	37	2	1137	2	PNLIPRP3	10	118231318	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	2589	118231318	17303429	4873	25798											
PNLIP	5406	broad.mit.edu	37	chr10	118313343	118313343	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accaatgggaccattggacgCatcacaggttggtgaaaaca	14	7	11	9	1	1	1	1	1	0	0	1	3	1	3	2	4	1	2	2	4	3	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:118313343C>T	ENST00000369221.2	+	6	592	c.564C>T	c.(562-564)cgC>cgT	p.R188R		NM_000936.2	NP_000927.1	P16233	LIPP_HUMAN	pancreatic lipase	188					intestinal cholesterol absorption (GO:0030299)|lipid catabolic process (GO:0016042)|lipid digestion (GO:0044241)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)	metal ion binding (GO:0046872)|triglyceride lipase activity (GO:0004806)			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	43				all cancers(201;0.0131)	Glycerol Phenylbutyrate(DB08909)|Orlistat(DB01083)	CCATTGGACGCATCACAGGTT	0.547																																						ENST00000369221.2																			0				central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	43						c.(562-564)cgC>cgT		pancreatic lipase	Bentiromide(DB00522)|Orlistat(DB01083)						79	64	69					10																	118313343		2203	4300	6503	SO:0001819	synonymous_variant	5406				lipid catabolic process|retinoid metabolic process|steroid metabolic process	extracellular region	retinyl-palmitate esterase activity|triglyceride lipase activity	g.chr10:118313343C>T	BC014309	CCDS7594.1	10q25.3	2012-07-31			ENSG00000175535	ENSG00000175535	3.1.1.3		9155	protein-coding gene	gene with protein product		246600				1783385	Standard	NM_000936		Approved	PL	uc001lcm.3	P16233	OTTHUMG00000019103	ENST00000369221.2:c.564C>T	10.37:g.118313343C>T							p.R188R	NM_000936.2	NP_000927.1	P16233	LIPP_HUMAN		all cancers(201;0.0131)	6	592	+			188					Q5VSQ2	Silent	SNP	ENST00000369221.2	37	c.564C>T	CCDS7594.1																																																																																				0.547	PNLIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050524.1	NM_000936		11	14	0	0	0	1	0	11	14					T	118313343	C	T	118313343	2	4	435	1	0	0	0	0	0	0	0	1	12149	697	25	3		3	PNLIP	10	118313343	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	82025	118313343	17221404	4874	25799											
HSPA12A	259217	broad.mit.edu	37	chr10	118440697	118440697	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agttccttaaggtgtccctcCggtaaccggatctgatggac	8	11	11	11	2	1	1	0	1	1	0	4	3	4	3	4	4	1	2	4	4	2	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:118440697C>T	ENST00000369209.3	-	9	1097	c.993G>A	c.(991-993)ccG>ccA	p.P331P		NM_025015.2	NP_079291.2	O43301	HS12A_HUMAN	heat shock 70kDa protein 12A	331						extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	32				all cancers(201;0.0158)		GGTGTCCCTCCGGTAACCGGA	0.488																																						ENST00000369209.3																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	32						c.(991-993)ccG>ccA		heat shock 70kDa protein 12A							102	106	105					10																	118440697		2010	4173	6183	SO:0001819	synonymous_variant	259217						ATP binding	g.chr10:118440697C>T	AB007877	CCDS41569.1	10q25.3	2011-09-02	2002-08-29		ENSG00000165868	ENSG00000165868		"Heat shock proteins / HSP70"	19022	protein-coding gene	gene with protein product		610701	"heat shock 70kD protein 12A"			12552099	Standard	NM_025015		Approved	FLJ13874, KIAA0417	uc001lct.3	O43301	OTTHUMG00000019107	ENST00000369209.3:c.993G>A	10.37:g.118440697C>T							p.P331P	NM_025015.2	NP_079291.2	O43301	HS12A_HUMAN		all cancers(201;0.0158)	9	1097	-			331						Silent	SNP	ENST00000369209.3	37	c.993G>A	CCDS41569.1																																																																																				0.488	HSPA12A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050530.1	NM_025015		29	37	0	0	0	1	0	29	37					T	118440697	C	T	118440697	2	4	435	1	0	0	0	0	0	0	0	1	7404	639	23	2		2	HSPA12A	10	118440697	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	127354	118440697	17094050	4875	25800											
HSPA12A	259217	broad.mit.edu	37	chr10	118440767	118440767	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ccacaaccacatacttatcaCctggcacaaaaacagccatc	16	6	3	16	0	1	0	1	0	0	0	2	0	1	0	4	1	4	1	4	1	5	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:118440767C>T	ENST00000369209.3	-	9	1027	c.923G>A	c.(922-924)gGt>gAt	p.G308D		NM_025015.2	NP_079291.2	O43301	HS12A_HUMAN	heat shock 70kDa protein 12A	308						extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	32				all cancers(201;0.0158)		ATACTTATCACCTGGCACAAA	0.498																																						ENST00000369209.3																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	32						c.e9-1		heat shock 70kDa protein 12A							72	75	74					10																	118440767		2100	4215	6315	SO:0001630	splice_region_variant	259217						ATP binding	g.chr10:118440767C>T	AB007877	CCDS41569.1	10q25.3	2011-09-02	2002-08-29		ENSG00000165868	ENSG00000165868		"Heat shock proteins / HSP70"	19022	protein-coding gene	gene with protein product		610701	"heat shock 70kD protein 12A"			12552099	Standard	NM_025015		Approved	FLJ13874, KIAA0417	uc001lct.3	O43301	OTTHUMG00000019107	ENST00000369209.3:c.923-1G>A	10.37:g.118440767C>T							p.G308_splice	NM_025015.2	NP_079291.2	O43301	HS12A_HUMAN		all cancers(201;0.0158)	9	1027	-			308						Splice_Site	SNP	ENST00000369209.3	37	c.922_splice	CCDS41569.1	.	.	.	.	.	.	.	.	.	.	C	27.9	4.875402	0.91664	.	.	ENSG00000165868	ENST00000369209	T	0.30448	1.53	6.02	6.02	0.97574	.	0.000000	0.85682	D	0.000000	T	0.52869	0.1761	L	0.47716	1.5	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.46569	-0.9182	10	0.66056	D	0.02	.	20.5407	0.99260	0.0:1.0:0.0:0.0	.	308	O43301	HS12A_HUMAN	D	308	ENSP00000358211:G308D	ENSP00000358211:G308D	G	-	2	0	HSPA12A	118430757	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.487000	0.81328	2.865000	0.98341	0.655000	0.94253	GGT		0.498	HSPA12A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050530.1	NM_025015	Missense_Mutation	23	29	0	0	0	1	0	23	29					T	118440767	C	T	118440767	5	4	435	1	0	0	0	0	0	0	1	0	7404	521	18	3	1120	3	HSPA12A	10	118440767	Splice_Site	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	70	118440767	17093980	4876	25801											
HSPA12A	259217	broad.mit.edu	37	chr10	118466749	118466749	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cagaggcgttattcctgtgtCcccaagactccgggctggag	7	9	13	12	2	0	2	0	0	0	2	3	3	3	3	4	3	0	2	4	3	2	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:118466749C>T	ENST00000369209.3	-	2	192	c.88G>A	c.(88-90)Gac>Aac	p.D30N		NM_025015.2	NP_079291.2	O43301	HS12A_HUMAN	heat shock 70kDa protein 12A	30						extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	32				all cancers(201;0.0158)		ATTCCTGTGTCCCCAAGACTC	0.542																																						ENST00000369209.3																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	32						c.(88-90)Gac>Aac		heat shock 70kDa protein 12A							46	53	51					10																	118466749		1980	4149	6129	SO:0001583	missense	259217						ATP binding	g.chr10:118466749C>T	AB007877	CCDS41569.1	10q25.3	2011-09-02	2002-08-29		ENSG00000165868	ENSG00000165868		"Heat shock proteins / HSP70"	19022	protein-coding gene	gene with protein product		610701	"heat shock 70kD protein 12A"			12552099	Standard	NM_025015		Approved	FLJ13874, KIAA0417	uc001lct.3	O43301	OTTHUMG00000019107	ENST00000369209.3:c.88G>A	10.37:g.118466749C>T	ENSP00000358211:p.Asp30Asn						p.D30N	NM_025015.2	NP_079291.2	O43301	HS12A_HUMAN		all cancers(201;0.0158)	2	192	-			30						Missense_Mutation	SNP	ENST00000369209.3	37	c.88G>A	CCDS41569.1	.	.	.	.	.	.	.	.	.	.	C	34	5.378792	0.95945	.	.	ENSG00000165868	ENST00000369209	T	0.43294	0.95	5.86	5.86	0.93980	.	0.091124	0.85682	D	0.000000	T	0.39517	0.1081	L	0.44542	1.39	0.80722	D	1	B	0.17038	0.02	B	0.18871	0.023	T	0.15435	-1.0437	10	0.19147	T	0.46	-23.4155	20.1931	0.98233	0.0:1.0:0.0:0.0	.	30	O43301	HS12A_HUMAN	N	30	ENSP00000358211:D30N	ENSP00000358211:D30N	D	-	1	0	HSPA12A	118456739	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	6.817000	0.75252	2.771000	0.95319	0.563000	0.77884	GAC		0.542	HSPA12A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050530.1	NM_025015		4	12	0	0	0	1	0	4	12					T	118466749	C	T	118466749	3	4	435	1	0	0	0	0	1	0	0	0	7404	855	30	3	1983	3	HSPA12A	10	118466749	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	25982	118466749	17067998	4877	25802											
KIAA1598	57698	broad.mit.edu	37	chr10	118738784	118738784	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaccttctcctttgttttctGgttctctgctctaaggtctt	4	20	6	11	0	5	0	0	0	5	0	7	0	5	0	2	2	2	3	2	2	2	7			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:118738784G>A	ENST00000355371.4	-	2	591	c.94C>T	c.(94-96)Cag>Tag	p.Q32*	KIAA1598_ENST00000392901.4_5'UTR|KIAA1598_ENST00000392903.2_Nonsense_Mutation_p.Q32*|KIAA1598_ENST00000260777.10_Nonsense_Mutation_p.Q32*	NM_001127211.2|NM_001258298.1|NM_001258299.1	NP_001120683.1|NP_001245227.1|NP_001245228.1	A0MZ66	SHOT1_HUMAN	KIAA1598	32					axon guidance (GO:0007411)|regulation of establishment of cell polarity (GO:2000114)|regulation of neuron migration (GO:2001222)	axonal growth cone (GO:0044295)				endometrium(1)|kidney(1)|large_intestine(5)|lung(3)	10				all cancers(201;0.00494)		TTTGTTTTCTGGTTCTCTGCT	0.398																																						ENST00000355371.4																			0				endometrium(1)|kidney(1)|large_intestine(5)|lung(3)	10						c.(94-96)Cag>Tag		KIAA1598							140	132	135					10																	118738784		2203	4300	6503	SO:0001587	stop_gained	57698				axon guidance	axon		g.chr10:118738784G>A	BC022348	CCDS31293.1, CCDS44482.1, CCDS58097.1, CCDS73207.1, CCDS73208.1	10q26.12	2007-01-30			ENSG00000187164	ENSG00000187164			29319	protein-coding gene	gene with protein product		611171				10997877, 17030985	Standard	NM_001127211		Approved	shootin1, shootin-1	uc009xyw.4	A0MZ66	OTTHUMG00000019114	ENST00000355371.4:c.94C>T	10.37:g.118738784G>A	ENSP00000347532:p.Gln32*					KIAA1598_ENST00000392903.2_Nonsense_Mutation_p.Q32*|KIAA1598_ENST00000260777.10_Nonsense_Mutation_p.Q32*|KIAA1598_ENST00000392901.4_5'UTR	p.Q32*	NM_001127211.2|NM_001258298.1|NM_001258299.1	NP_001120683.1|NP_001245227.1|NP_001245228.1	A0MZ66	SHOT1_HUMAN		all cancers(201;0.00494)	2	591	-			32					A8MYU7|B3KRD3|B3KRH2|B3KTE0|B3KTJ7|B3KTJ8|B4E3U1|B7Z7Z9|Q68DG1|Q6PIM5|Q9HCH4|Q9NUV0	Nonsense_Mutation	SNP	ENST00000355371.4	37	c.94C>T	CCDS44482.1	.	.	.	.	.	.	.	.	.	.	G	38	6.763208	0.97821	.	.	ENSG00000187164	ENST00000392903;ENST00000260777;ENST00000355371	.	.	.	6.07	5.11	0.69529	.	0.365309	0.28312	N	0.015806	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-17.0368	10.8897	0.46988	0.0:0.0:0.7708:0.2292	.	.	.	.	X	32	.	ENSP00000260777:Q32X	Q	-	1	0	KIAA1598	118728774	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.289000	0.51747	2.885000	0.99019	0.655000	0.94253	CAG		0.398	KIAA1598-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_018330		15	26	0	0	0	1	0	15	26					A	118738784	G	A	118738784	4	1	435	1	0	0	0	0	0	1	0	0	8246	1357	47	3	1865	3	KIAA1598	10	118738784	Nonsense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	272035	118738784	16795963	4878	25803											
VAX1	11023	broad.mit.edu	37	chr10	118891815	118891815	+	IGR	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cttcttttgtttttttatccTtcaaatataagacaaaaata	14	19	2	6	0	2	1	1	0	1	1	3	1	3	1	1	0	0	1	1	0	7	11			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:118891815T>C	ENST00000369206.5	-	0	1723				VAX1_ENST00000277905.2_Splice_Site	NM_001112704.1	NP_001106175.1	Q5SQQ9	VAX1_HUMAN	ventral anterior homeobox 1						axon guidance (GO:0007411)|brain development (GO:0007420)|camera-type eye development (GO:0043010)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|palate development (GO:0060021)|skeletal muscle cell differentiation (GO:0035914)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|large_intestine(1)|lung(8)|ovary(2)	12				all cancers(201;0.0108)		TTTTTTATCCTTCAAATATAA	0.393																																						ENST00000277905.2																			0				endometrium(1)|large_intestine(1)|lung(8)|ovary(2)	12						c.e4-2		ventral anterior homeobox 1							45	52	50					10																	118891815		2203	4300	6503	SO:0001628	intergenic_variant	11023					nucleus	sequence-specific DNA binding	g.chr10:118891815T>C	AK127095	CCDS7597.1, CCDS44483.1	10q26.11	2011-06-20			ENSG00000148704	ENSG00000148704		"Homeoboxes / ANTP class : NKL subclass"	12660	protein-coding gene	gene with protein product		604294				9636075, 10485894	Standard	NM_199131		Approved		uc009xyx.3	Q5SQQ9	OTTHUMG00000019117		10.37:g.118891815T>C								NM_199131.2	NP_954582.1	Q5SQQ9	VAX1_HUMAN		all cancers(201;0.0108)	4	712	-								B1AVW5|Q6ZSX0	Splice_Site	SNP	ENST00000369206.5	37		CCDS44483.1	.	.	.	.	.	.	.	.	.	.	T	10.27	1.302998	0.23736	.	.	ENSG00000148704	ENST00000277905	.	.	.	5.72	5.72	0.89469	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.3926	0.60832	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	VAX1	118881805	1.000000	0.71417	1.000000	0.80357	0.925000	0.55904	3.376000	0.52417	2.187000	0.69744	0.533000	0.62120	.		0.393	VAX1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050559.3	XM_301242		18	18	0	0	0	1	0	18	18					C	118891815	T	C	118891815	1	2	435	0	1	0	0	0	0	0	0	0	17131	1623	56	4		4	VAX1	10	118891815	IGR	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	153031	118891815	16642932	4879	25804											
SLC18A2	6571	broad.mit.edu	37	chr10	119013558	119013558	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttggaccccctctctcggcaGtgtttgccttctccagcagc	4	12	9	16	1	2	0	0	0	2	0	5	1	2	1	4	2	3	3	4	2	0	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:119013558G>T	ENST00000298472.5	+	5	666		c.e5-1		SLC18A2_ENST00000497497.1_Splice_Site	NM_003054.4	NP_003045.2	Q05940	VMAT2_HUMAN	solute carrier family 18 (vesicular monoamine transporter), member 2						aging (GO:0007568)|cellular response to ammonium ion (GO:0071242)|cellular response to drug (GO:0035690)|death (GO:0016265)|dopamine transport (GO:0015872)|endocytic recycling (GO:0032456)|glucose homeostasis (GO:0042593)|insulin secretion (GO:0030073)|locomotory behavior (GO:0007626)|monoamine transport (GO:0015844)|negative regulation of neurotransmitter transport (GO:0051589)|neurotransmitter loading into synaptic vesicle (GO:0098700)|neurotransmitter secretion (GO:0007269)|post-embryonic development (GO:0009791)|response to amphetamine (GO:0001975)|response to cocaine (GO:0042220)|response to corticosterone (GO:0051412)|response to herbicide (GO:0009635)|response to starvation (GO:0042594)|response to zinc ion (GO:0010043)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	clathrin-sculpted monoamine transport vesicle membrane (GO:0070083)|dense core granule (GO:0031045)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)|synaptic vesicle membrane (GO:0030672)|terminal bouton (GO:0043195)	amine transmembrane transporter activity (GO:0005275)|drug binding (GO:0008144)|monoamine transmembrane transporter activity (GO:0008504)|serotonin transmembrane transporter activity (GO:0015222)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)	29		Colorectal(252;0.19)		all cancers(201;0.029)	Amphetamine(DB00182)|Benzphetamine(DB00865)|Deserpidine(DB01089)|Dextroamphetamine(DB01576)|Ephedra(DB01363)|Ephedrine(DB01364)|Isometheptene(DB06706)|Methamphetamine(DB01577)|Norepinephrine(DB00368)|Propylhexedrine(DB06714)|Reserpine(DB00206)|Tetrabenazine(DB04844)	TCTCTCGGCAGTGTTTGCCTT	0.592																																						ENST00000298472.5																			0				NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)	29						c.e5-1		solute carrier family 18 (vesicular monoamine transporter), member 2	Alseroxylon(DB00386)|Reserpine(DB00206)|Tetrabenazine(DB04844)						148	131	137					10																	119013558		2203	4300	6503	SO:0001630	splice_region_variant	6571				neurotransmitter secretion	clathrin sculpted monoamine transport vesicle membrane|integral to plasma membrane|membrane fraction	monoamine transmembrane transporter activity	g.chr10:119013558G>T	L14269	CCDS7599.1	10q25	2013-07-18	2013-07-18		ENSG00000165646	ENSG00000165646		"Solute carriers"	10935	protein-coding gene	gene with protein product		193001		VMAT2			Standard	NM_003054		Approved	SVMT, SVAT	uc001ldd.2	Q05940	OTTHUMG00000019121	ENST00000298472.5:c.524-1G>T	10.37:g.119013558G>T						SLC18A2_ENST00000497497.1_Splice_Site		NM_003054.4	NP_003045.2	Q05940	VMAT2_HUMAN		all cancers(201;0.029)	5	666	+		Colorectal(252;0.19)						B2RC96|D3DRC4|Q15876|Q4G147|Q5VW49|Q9H3P6	Splice_Site	SNP	ENST00000298472.5	37		CCDS7599.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.210592	0.79240	.	.	ENSG00000165646	ENST00000298472	.	.	.	5.94	5.94	0.96194	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.3594	0.98849	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SLC18A2	119003548	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	9.827000	0.99397	2.816000	0.96949	0.563000	0.77884	.		0.592	SLC18A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050563.1	NM_003054	Intron	53	69	1	0	1.3268e-25	1	1.48173e-25	53	69					T	119013558	G	T	119013558	5	4	435	1	0	0	0	0	0	0	1	0	14426	1043	36	5	537	5	SLC18A2	10	119013558	Splice_Site	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	121743	119013558	16521189	4880	25805											
SLC18A2	6571	broad.mit.edu	37	chr10	119029690	119029690	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ggatgtggcattttgtatggGgtatgctataggtaaggaca	10	13	15	3	0	0	0	0	0	0	0	0	2	0	2	0	6	1	5	0	6	5	7			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:119029690G>A	ENST00000298472.5	+	14	1438	c.1295G>A	c.(1294-1296)gGg>gAg	p.G432E	SLC18A2_ENST00000497497.1_3'UTR	NM_003054.4	NP_003045.2	Q05940	VMAT2_HUMAN	solute carrier family 18 (vesicular monoamine transporter), member 2	432					aging (GO:0007568)|cellular response to ammonium ion (GO:0071242)|cellular response to drug (GO:0035690)|death (GO:0016265)|dopamine transport (GO:0015872)|endocytic recycling (GO:0032456)|glucose homeostasis (GO:0042593)|insulin secretion (GO:0030073)|locomotory behavior (GO:0007626)|monoamine transport (GO:0015844)|negative regulation of neurotransmitter transport (GO:0051589)|neurotransmitter loading into synaptic vesicle (GO:0098700)|neurotransmitter secretion (GO:0007269)|post-embryonic development (GO:0009791)|response to amphetamine (GO:0001975)|response to cocaine (GO:0042220)|response to corticosterone (GO:0051412)|response to herbicide (GO:0009635)|response to starvation (GO:0042594)|response to zinc ion (GO:0010043)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	clathrin-sculpted monoamine transport vesicle membrane (GO:0070083)|dense core granule (GO:0031045)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)|synaptic vesicle membrane (GO:0030672)|terminal bouton (GO:0043195)	amine transmembrane transporter activity (GO:0005275)|drug binding (GO:0008144)|monoamine transmembrane transporter activity (GO:0008504)|serotonin transmembrane transporter activity (GO:0015222)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)	29		Colorectal(252;0.19)		all cancers(201;0.029)	Amphetamine(DB00182)|Benzphetamine(DB00865)|Deserpidine(DB01089)|Dextroamphetamine(DB01576)|Ephedra(DB01363)|Ephedrine(DB01364)|Isometheptene(DB06706)|Methamphetamine(DB01577)|Norepinephrine(DB00368)|Propylhexedrine(DB06714)|Reserpine(DB00206)|Tetrabenazine(DB04844)	TTTTGTATGGGGTATGCTATA	0.428																																						ENST00000298472.5																			0				NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)	29						c.(1294-1296)gGg>gAg		solute carrier family 18 (vesicular monoamine transporter), member 2	Alseroxylon(DB00386)|Reserpine(DB00206)|Tetrabenazine(DB04844)						292	250	264					10																	119029690		2203	4300	6503	SO:0001583	missense	6571				neurotransmitter secretion	clathrin sculpted monoamine transport vesicle membrane|integral to plasma membrane|membrane fraction	monoamine transmembrane transporter activity	g.chr10:119029690G>A	L14269	CCDS7599.1	10q25	2013-07-18	2013-07-18		ENSG00000165646	ENSG00000165646		"Solute carriers"	10935	protein-coding gene	gene with protein product		193001		VMAT2			Standard	NM_003054		Approved	SVMT, SVAT	uc001ldd.2	Q05940	OTTHUMG00000019121	ENST00000298472.5:c.1295G>A	10.37:g.119029690G>A	ENSP00000298472:p.Gly432Glu					SLC18A2_ENST00000497497.1_3'UTR	p.G432E	NM_003054.4	NP_003045.2	Q05940	VMAT2_HUMAN		all cancers(201;0.029)	14	1438	+		Colorectal(252;0.19)	432					B2RC96|D3DRC4|Q15876|Q4G147|Q5VW49|Q9H3P6	Missense_Mutation	SNP	ENST00000298472.5	37	c.1295G>A	CCDS7599.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.298403	0.81025	.	.	ENSG00000165646	ENST00000298472	D	0.85861	-2.04	5.91	5.91	0.95273	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	D	0.93164	0.7823	M	0.82056	2.57	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.93157	0.6554	10	0.87932	D	0	-12.6688	20.2946	0.98546	0.0:0.0:1.0:0.0	.	432	Q05940	VMAT2_HUMAN	E	432	ENSP00000298472:G432E	ENSP00000298472:G432E	G	+	2	0	SLC18A2	119019680	1.000000	0.71417	0.976000	0.42696	0.611000	0.37282	5.714000	0.68422	2.804000	0.96469	0.462000	0.41574	GGG		0.428	SLC18A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050563.1	NM_003054		57	109	0	0	0	1	0	57	109					A	119029690	G	A	119029690	3	1	435	1	0	0	0	0	1	0	0	0	14426	1232	43	3	1345	3	SLC18A2	10	119029690	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	16132	119029690	16505057	4881	25806											
EMX2	2018	broad.mit.edu	37	chr10	119305160	119305160	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cagggaacgacactagccccGagagtttccttttgcacaac	11	8	9	13	2	0	1	0	0	0	1	1	4	1	2	3	1	4	2	3	1	3	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:119305160G>A	ENST00000553456.3	+	2	1248	c.424G>A	c.(424-426)Gag>Aag	p.E142K	EMX2_ENST00000546446.1_3'UTR|EMX2_ENST00000442245.4_Intron|EMX2OS_ENST00000551288.1_RNA	NM_004098.3	NP_004089.1	Q04743	EMX2_HUMAN	empty spiracles homeobox 2	142					anterior/posterior pattern specification (GO:0009952)|cell proliferation in forebrain (GO:0021846)|cerebral cortex regionalization (GO:0021796)|dentate gyrus development (GO:0021542)|forebrain cell migration (GO:0021885)|neuron differentiation (GO:0030182)|regulation of transcription, DNA-templated (GO:0006355)|renal system development (GO:0072001)|response to drug (GO:0042493)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			endometrium(2)|large_intestine(5)|lung(2)|ovary(1)|prostate(2)	12		Colorectal(252;0.109)|Lung NSC(174;0.179)|all_lung(145;0.22)		all cancers(201;0.0133)		CACTAGCCCCGAGAGTTTCCT	0.642																																						ENST00000553456.3																			0				endometrium(2)|large_intestine(5)|lung(2)|ovary(1)|prostate(2)	12						c.(424-426)Gag>Aag		empty spiracles homeobox 2							62	53	56					10																	119305160		2203	4300	6503	SO:0001583	missense	2018					nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr10:119305160G>A	AF301598	CCDS7601.1, CCDS53583.1	10q26.11	2011-06-20	2007-02-15		ENSG00000170370	ENSG00000170370		"Homeoboxes / ANTP class : NKL subclass"	3341	protein-coding gene	gene with protein product		600035	"empty spiracles homolog 2 (Drosophila)"			7959790	Standard	NM_004098		Approved		uc001ldh.4	Q04743	OTTHUMG00000019123	ENST00000553456.3:c.424G>A	10.37:g.119305160G>A	ENSP00000450962:p.Glu142Lys					EMX2_ENST00000442245.4_Intron|EMX2_ENST00000546446.1_3'UTR	p.E142K	NM_004098.3	NP_004089.1	Q04743	EMX2_HUMAN		all cancers(201;0.0133)	2	1248	+		Colorectal(252;0.109)|Lung NSC(174;0.179)|all_lung(145;0.22)	142					G3V305|Q96NN8|Q9BQF4	Missense_Mutation	SNP	ENST00000553456.3	37	c.424G>A	CCDS7601.1	.	.	.	.	.	.	.	.	.	.	G	24.7	4.564181	0.86335	.	.	ENSG00000170370	ENST00000369201	.	.	.	5.77	5.77	0.91146	Homeodomain-related (1);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	T	0.51652	0.1687	L	0.52573	1.65	0.80722	D	1	P	0.35527	0.507	B	0.27380	0.079	T	0.48790	-0.9004	9	0.27082	T	0.32	-14.8166	19.9805	0.97323	0.0:0.0:1.0:0.0	.	142	Q04743	EMX2_HUMAN	K	142	.	ENSP00000358202:E142K	E	+	1	0	EMX2	119295150	1.000000	0.71417	0.993000	0.49108	0.992000	0.81027	9.869000	0.99810	2.726000	0.93360	0.549000	0.68633	GAG		0.642	EMX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050569.4	NM_004098		7	20	0	0	0	1	0	7	20					A	119305160	G	A	119305160	3	1	435	1	0	0	0	0	1	0	0	0	5108	1059	37	2	430	2	EMX2	10	119305160	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	275470	119305160	16229587	4882	25807											
EMX2	2018	broad.mit.edu	37	chr10	119305250	119305250	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcttctaaggctggaacacGcctttgagaagaatcactac	13	9	9	10	1	2	2	1	1	1	2	2	4	2	3	1	2	3	2	1	2	5	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:119305250G>A	ENST00000553456.3	+	2	1338	c.514G>A	c.(514-516)Gcc>Acc	p.A172T	EMX2_ENST00000546446.1_3'UTR|EMX2_ENST00000442245.4_Intron|EMX2OS_ENST00000551288.1_RNA	NM_004098.3	NP_004089.1	Q04743	EMX2_HUMAN	empty spiracles homeobox 2	172					anterior/posterior pattern specification (GO:0009952)|cell proliferation in forebrain (GO:0021846)|cerebral cortex regionalization (GO:0021796)|dentate gyrus development (GO:0021542)|forebrain cell migration (GO:0021885)|neuron differentiation (GO:0030182)|regulation of transcription, DNA-templated (GO:0006355)|renal system development (GO:0072001)|response to drug (GO:0042493)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			endometrium(2)|large_intestine(5)|lung(2)|ovary(1)|prostate(2)	12		Colorectal(252;0.109)|Lung NSC(174;0.179)|all_lung(145;0.22)		all cancers(201;0.0133)		GCTGGAACACGCCTTTGAGAA	0.622																																						ENST00000553456.3																			0				endometrium(2)|large_intestine(5)|lung(2)|ovary(1)|prostate(2)	12						c.(514-516)Gcc>Acc		empty spiracles homeobox 2							55	49	51					10																	119305250		2203	4300	6503	SO:0001583	missense	2018					nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr10:119305250G>A	AF301598	CCDS7601.1, CCDS53583.1	10q26.11	2011-06-20	2007-02-15		ENSG00000170370	ENSG00000170370		"Homeoboxes / ANTP class : NKL subclass"	3341	protein-coding gene	gene with protein product		600035	"empty spiracles homolog 2 (Drosophila)"			7959790	Standard	NM_004098		Approved		uc001ldh.4	Q04743	OTTHUMG00000019123	ENST00000553456.3:c.514G>A	10.37:g.119305250G>A	ENSP00000450962:p.Ala172Thr					EMX2_ENST00000442245.4_Intron|EMX2_ENST00000546446.1_3'UTR	p.A172T	NM_004098.3	NP_004089.1	Q04743	EMX2_HUMAN		all cancers(201;0.0133)	2	1338	+		Colorectal(252;0.109)|Lung NSC(174;0.179)|all_lung(145;0.22)	172					G3V305|Q96NN8|Q9BQF4	Missense_Mutation	SNP	ENST00000553456.3	37	c.514G>A	CCDS7601.1	.	.	.	.	.	.	.	.	.	.	G	37	6.348716	0.97494	.	.	ENSG00000170370	ENST00000369201	.	.	.	5.9	5.9	0.94986	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	T	0.61261	0.2333	N	0.17838	0.53	0.80722	D	1	D	0.56287	0.975	P	0.58130	0.833	T	0.59815	-0.7383	9	0.39692	T	0.17	-12.29	20.2806	0.98513	0.0:0.0:1.0:0.0	.	172	Q04743	EMX2_HUMAN	T	172	.	ENSP00000358202:A172T	A	+	1	0	EMX2	119295240	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.869000	0.99810	2.795000	0.96236	0.643000	0.83706	GCC		0.622	EMX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050569.4	NM_004098		14	20	0	0	0	1	0	14	20					A	119305250	G	A	119305250	3	1	435	1	0	0	0	0	1	0	0	0	5108	1087	38	1	520	1	EMX2	10	119305250	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	90	119305250	16229497	4883	25808											
RAB11FIP2	22841	broad.mit.edu	37	chr10	119800026	119800026	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actgaatattgacctttatcTcacccctgtttttgattcgt	8	18	5	10	1	1	3	1	3	1	0	3	3	1	3	3	0	0	1	3	0	3	7			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:119800026T>A	ENST00000355624.3	-	2	843	c.404A>T	c.(403-405)gAg>gTg	p.E135V	RP11-354M20.3_ENST00000451610.2_RNA|RP11-354M20.3_ENST00000417968.4_RNA|RAB11FIP2_ENST00000369199.3_Missense_Mutation_p.E135V	NM_014904.2	NP_055719.1	Q7L804	RFIP2_HUMAN	RAB11 family interacting protein 2 (class I)	135					establishment of cell polarity (GO:0030010)|insulin secretion involved in cellular response to glucose stimulus (GO:0035773)|protein transport (GO:0015031)|regulated secretory pathway (GO:0045055)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasmic vesicle membrane (GO:0030659)|endosome (GO:0005768)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)			cervix(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(8)	19		Colorectal(252;0.235)		all cancers(201;0.0238)		GACCTTTATCTCACCCCTGTT	0.333																																						ENST00000355624.3																			0				cervix(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(8)	19						c.(403-405)gAg>gTg		RAB11 family interacting protein 2 (class I)							106	83	91					10																	119800026		2203	4300	6503	SO:0001583	missense	22841				protein transport	plasma membrane|recycling endosome membrane	protein homodimerization activity	g.chr10:119800026T>A	AY037299	CCDS7602.1	10q26.12	2004-07-22			ENSG00000107560	ENSG00000107560			29152	protein-coding gene	gene with protein product		608599				11994279, 10231032	Standard	NM_014904		Approved	KIAA0941, nRip11, Rab11-FIP2	uc001ldj.2	Q7L804	OTTHUMG00000019128	ENST00000355624.3:c.404A>T	10.37:g.119800026T>A	ENSP00000347839:p.Glu135Val					RP11-354M20.3_ENST00000451610.2_RNA|RAB11FIP2_ENST00000369199.3_Missense_Mutation_p.E135V|RP11-354M20.3_ENST00000417968.3_RNA	p.E135V	NM_014904.2	NP_055719.1	Q7L804	RFIP2_HUMAN		all cancers(201;0.0238)	2	843	-		Colorectal(252;0.235)	135					A6NEI4|Q3I768|Q9Y2F0	Missense_Mutation	SNP	ENST00000355624.3	37	c.404A>T	CCDS7602.1	.	.	.	.	.	.	.	.	.	.	T	15.09	2.729996	0.48939	.	.	ENSG00000107560	ENST00000355624;ENST00000369199	T;T	0.30714	1.52;1.52	5.39	5.39	0.77823	C2 calcium/lipid-binding domain, CaLB (1);	0.221026	0.47093	D	0.000247	T	0.48314	0.1493	M	0.81682	2.555	0.52501	D	0.999956	P;B	0.37612	0.602;0.373	B;P	0.46026	0.421;0.501	T	0.54275	-0.8318	10	0.87932	D	0	-19.9179	15.7009	0.77541	0.0:0.0:0.0:1.0	.	135;135	Q3I768;Q7L804	.;RFIP2_HUMAN	V	135	ENSP00000347839:E135V;ENSP00000358200:E135V	ENSP00000347839:E135V	E	-	2	0	RAB11FIP2	119790016	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.918000	0.63376	2.169000	0.68431	0.533000	0.62120	GAG		0.333	RAB11FIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050583.1	NM_014904		7	18	0	0	0	1	0	7	18					A	119800026	T	A	119800026	3	1	435	1	0	0	0	0	1	0	0	0	12894	1551	54	5	1150	5	RAB11FIP2	10	119800026	Missense_Mutation	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	494776	119800026	15734721	4884	25809											
INPP5F	22876	broad.mit.edu	37	chr10	121580392	121580392	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctcacagagacgtggatgtgCtgttactgctttctaactct	8	14	9	10	1	3	1	1	0	2	1	3	3	3	2	0	1	4	3	0	1	2	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:121580392C>A	ENST00000361976.2	+	16	2087	c.1921C>A	c.(1921-1923)Ctg>Atg	p.L641M	INPP5F_ENST00000490818.1_3'UTR|INPP5F_ENST00000369080.3_Missense_Mutation_p.L31M	NM_014937.3	NP_055752.1	Q01968	OCRL_HUMAN	inositol polyphosphate-5-phosphatase F	0	ASH.				cilium assembly (GO:0042384)|in utero embryonic development (GO:0001701)|inositol phosphate metabolic process (GO:0043647)|lipid metabolic process (GO:0006629)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|positive regulation of Rac GTPase activity (GO:0032855)|regulation of Rac GTPase activity (GO:0032314)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|Golgi stack (GO:0005795)|Golgi-associated vesicle (GO:0005798)|nucleus (GO:0005634)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	inositol phosphate phosphatase activity (GO:0052745)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)|Rac GTPase activator activity (GO:0030675)|Rac GTPase binding (GO:0048365)			breast(1)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(9)|lung(5)|ovary(5)|pancreas(1)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	42		Lung NSC(174;0.109)|all_lung(145;0.142)		all cancers(201;0.00205)|BRCA - Breast invasive adenocarcinoma(275;0.158)		CGTGGATGTGCTGTTACTGCT	0.338																																						ENST00000361976.2																			0				breast(1)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(9)|lung(5)|ovary(5)|pancreas(1)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	42						c.(1921-1923)Ctg>Atg		inositol polyphosphate-5-phosphatase F							236	213	221					10																	121580392		2203	4300	6503	SO:0001583	missense	22876						phosphoric ester hydrolase activity	g.chr10:121580392C>A	AB023183	CCDS7616.1, CCDS58098.1	10q26.13	2009-02-03			ENSG00000198825	ENSG00000198825			17054	protein-coding gene	gene with protein product		609389				10231032, 11274189	Standard	NM_014937		Approved	SAC2, KIAA0966, hSac2	uc001leo.3	Q9Y2H2	OTTHUMG00000019158	ENST00000361976.2:c.1921C>A	10.37:g.121580392C>A	ENSP00000354519:p.Leu641Met					INPP5F_ENST00000490818.1_3'UTR|INPP5F_ENST00000369080.3_Missense_Mutation_p.L31M	p.L641M	NM_014937.3	NP_055752.1	Q9Y2H2	SAC2_HUMAN		all cancers(201;0.00205)|BRCA - Breast invasive adenocarcinoma(275;0.158)	16	2087	+		Lung NSC(174;0.109)|all_lung(145;0.142)	641					A6NKI1|A8KAP2|B7ZLX2|O60800|Q15684|Q15774|Q4VY09|Q4VY10|Q5JQF1|Q5JQF2|Q9UJG5|Q9UMA5	Missense_Mutation	SNP	ENST00000361976.2	37	c.1921C>A	CCDS7616.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.122395	0.77436	.	.	ENSG00000198825	ENST00000361976;ENST00000369080	T;T	0.53423	0.9;0.62	5.68	4.78	0.61160	.	0.000000	0.64402	D	0.000002	T	0.49406	0.1555	L	0.36672	1.1	0.80722	D	1	P;P	0.49862	0.684;0.929	B;P	0.52309	0.343;0.695	T	0.52764	-0.8532	10	0.87932	D	0	-9.2835	12.3965	0.55389	0.0:0.8604:0.0:0.1396	.	31;641	Q5W135;Q9Y2H2	.;SAC2_HUMAN	M	641;31	ENSP00000354519:L641M;ENSP00000358076:L31M	ENSP00000354519:L641M	L	+	1	2	INPP5F	121570382	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.860000	0.55995	1.402000	0.46780	0.467000	0.42956	CTG		0.338	INPP5F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050679.1	NM_014937		35	45	1	0	6.33695e-27	1	7.08463e-27	35	45					A	121580392	C	A	121580392	3	1	435	1	0	0	0	0	1	0	0	0	7758	796	28	5	1983	5	INPP5F	10	121580392	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	1780366	121580392	13954355	4885	25810											
INPP5F	79892	broad.mit.edu	37	chr10	121586586	121586586	+	IGR	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttgtggtattattgcctcagCgcctcgattgggcagtcggt	5	14	13	9	3	1	0	1	0	0	0	3	1	1	0	2	3	2	2	2	3	2	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:121586586C>T	ENST00000360003.3	-	0	4113				INPP5F_ENST00000361976.2_Missense_Mutation_p.A898V|INPP5F_ENST00000369080.3_Missense_Mutation_p.A288V	NM_001256378.1|NM_001256379.1|NM_024834.3	NP_001243307.1|NP_001243308.1|NP_079110.1	Q9BTE3	MCMBP_HUMAN	minichromosome maintenance complex binding protein						DNA-dependent DNA replication (GO:0006261)|mitotic nuclear division (GO:0007067)|sister chromatid cohesion (GO:0007062)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	chromatin binding (GO:0003682)			breast(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(2)|skin(2)	21						ATTGCCTCAGCGCCTCGATTG	0.468																																						ENST00000361976.2																			0				breast(1)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(9)|lung(5)|ovary(5)|pancreas(1)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	42						c.(2692-2694)gCg>gTg		inositol polyphosphate-5-phosphatase F							145	117	126					10																	121586586		2203	4300	6503	SO:0001628	intergenic_variant	22876						phosphoric ester hydrolase activity	g.chr10:121586586C>T	BC007219	CCDS7617.1, CCDS58099.1	10q26.13	2013-10-11	2011-01-05	2011-01-05	ENSG00000197771	ENSG00000197771			25782	protein-coding gene	gene with protein product		610909	"chromosome 10 open reading frame 119"	C10orf119		17296731	Standard	NM_024834		Approved	FLJ13081, MCM-BP	uc001ler.3	Q9BTE3	OTTHUMG00000019159		10.37:g.121586586C>T						INPP5F_ENST00000369080.3_Missense_Mutation_p.A288V	p.A898V	NM_014937.3	NP_055752.1	Q9Y2H2	SAC2_HUMAN		all cancers(201;0.00205)|BRCA - Breast invasive adenocarcinoma(275;0.158)	20	2859	+		Lung NSC(174;0.109)|all_lung(145;0.142)	898					B3KSP7|Q6IA56|Q9BVT9|Q9H916	Missense_Mutation	SNP	ENST00000360003.3	37	c.2693C>T	CCDS7617.1	.	.	.	.	.	.	.	.	.	.	C	10.14	1.268420	0.23136	.	.	ENSG00000198825	ENST00000361976;ENST00000369080	T;T	0.50548	0.99;0.74	5.92	3.05	0.35203	.	0.177493	0.49916	D	0.000132	T	0.28732	0.0712	N	0.19112	0.55	0.80722	D	1	B;B	0.20550	0.046;0.008	B;B	0.12156	0.007;0.002	T	0.05209	-1.0899	10	0.42905	T	0.14	-5.1342	6.7686	0.23581	0.0:0.671:0.1273:0.2017	.	288;898	Q5W135;Q9Y2H2	.;SAC2_HUMAN	V	898;288	ENSP00000354519:A898V;ENSP00000358076:A288V	ENSP00000354519:A898V	A	+	2	0	INPP5F	121576576	0.930000	0.31532	0.944000	0.38274	0.525000	0.34531	1.964000	0.40462	0.397000	0.25310	0.655000	0.94253	GCG		0.468	MCMBP-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000050684.1	NM_024834		21	52	0	0	0	1	0	21	52					T	121586586	C	T	121586586	1	4	435	0	1	0	0	0	0	0	0	0	7758	768	27	1		1	INPP5F	10	121586586	IGR	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	6194	121586586	13948161	4886	25811											
PPAPDC1A	196051	broad.mit.edu	37	chr10	122280506	122280506	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcgccccgatttcttttaccGctgctttccagatggagtga	6	14	9	12	3	1	2	0	1	1	1	3	4	2	3	4	1	2	2	4	1	1	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:122280506G>A	ENST00000398250.1	+	5	696	c.344G>A	c.(343-345)cGc>cAc	p.R115H	PPAPDC1A_ENST00000439221.1_Intron|PPAPDC1A_ENST00000541332.1_Missense_Mutation_p.R115H|PPAPDC1A_ENST00000398248.1_Intron|PPAPDC1A_ENST00000369073.3_Missense_Mutation_p.R105H	NM_001030059.1	NP_001025230.1	Q5VZY2	PPC1A_HUMAN	phosphatidic acid phosphatase type 2 domain containing 1A	115					Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|phospholipid dephosphorylation (GO:0046839)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	phosphatidate phosphatase activity (GO:0008195)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|urinary_tract(1)	20		Lung NSC(174;0.1)|all_lung(145;0.132)		all cancers(201;0.0117)		TTCTTTTACCGCTGCTTTCCA	0.517																																						ENST00000398250.1																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|urinary_tract(1)	20						c.(343-345)cGc>cAc		phosphatidic acid phosphatase type 2 domain containing 1A							93	92	92					10																	122280506		1879	4103	5982	SO:0001583	missense	196051				phospholipid dephosphorylation	integral to membrane	phosphatidate phosphatase activity	g.chr10:122280506G>A	AK098668	CCDS41573.1	10q26.13	2008-02-05		2005-07-15	ENSG00000203805	ENSG00000203805			23531	protein-coding gene	gene with protein product			"phosphatidic acid phosphatase type 2 domain containing 1"	PPAPDC1			Standard	XM_005269592		Approved		uc001lev.1	Q5VZY2	OTTHUMG00000019168	ENST00000398250.1:c.344G>A	10.37:g.122280506G>A	ENSP00000381302:p.Arg115His					PPAPDC1A_ENST00000369073.3_Missense_Mutation_p.R105H|PPAPDC1A_ENST00000439221.1_Intron|PPAPDC1A_ENST00000541332.1_Missense_Mutation_p.R115H|PPAPDC1A_ENST00000398248.1_Intron	p.R115H	NM_001030059.1	NP_001025230.1	Q5VZY2	PPC1A_HUMAN		all cancers(201;0.0117)	5	696	+		Lung NSC(174;0.1)|all_lung(145;0.132)	115					A2RU82|Q08EQ2|Q0IIP2|Q495B4|Q5VZY1	Missense_Mutation	SNP	ENST00000398250.1	37	c.344G>A	CCDS41573.1	.	.	.	.	.	.	.	.	.	.	G	34	5.350628	0.95830	.	.	ENSG00000203805	ENST00000398250;ENST00000427079;ENST00000541332;ENST00000369073	T;T;T;T	0.76316	-1.01;-1.01;-1.01;-1.01	5.75	5.75	0.90469	Phosphatidic acid phosphatase/chloroperoxidase, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.93003	0.7773	H	0.97564	4.03	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.997	D	0.94865	0.8025	10	0.87932	D	0	-22.3041	19.9598	0.97242	0.0:0.0:1.0:0.0	.	115;115	B7Z3R3;Q5VZY2	.;PPC1A_HUMAN	H	115;115;115;105	ENSP00000381302:R115H;ENSP00000407979:R115H;ENSP00000440493:R115H;ENSP00000358069:R105H	ENSP00000358069:R105H	R	+	2	0	PPAPDC1A	122270496	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.476000	0.97823	2.716000	0.92895	0.655000	0.94253	CGC		0.517	PPAPDC1A-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		XM_113641		18	127	0	0	0	1	0	18	127					A	122280506	G	A	122280506	3	1	435	1	0	0	0	0	1	0	0	0	12293	1087	38	1	362	1	PPAPDC1A	10	122280506	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	693920	122280506	13254241	4887	25812											
PPAPDC1A	196051	broad.mit.edu	37	chr10	122280551	122280551	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ctcggaaatgcattgcacagGtgaccccgatctggtgtccg	8	9	12	12	3	1	1	0	1	1	0	3	3	2	2	3	3	2	2	3	3	1	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:122280551G>A	ENST00000398250.1	+	5	741	c.389G>A	c.(388-390)gGt>gAt	p.G130D	PPAPDC1A_ENST00000439221.1_Intron|PPAPDC1A_ENST00000541332.1_Missense_Mutation_p.G130D|PPAPDC1A_ENST00000398248.1_Intron|PPAPDC1A_ENST00000369073.3_Missense_Mutation_p.G120D	NM_001030059.1	NP_001025230.1	Q5VZY2	PPC1A_HUMAN	phosphatidic acid phosphatase type 2 domain containing 1A	130					Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|phospholipid dephosphorylation (GO:0046839)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	phosphatidate phosphatase activity (GO:0008195)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|urinary_tract(1)	20		Lung NSC(174;0.1)|all_lung(145;0.132)		all cancers(201;0.0117)		CATTGCACAGGTGACCCCGAT	0.493																																						ENST00000398250.1																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|urinary_tract(1)	20						c.(388-390)gGt>gAt		phosphatidic acid phosphatase type 2 domain containing 1A							84	85	85					10																	122280551		1908	4127	6035	SO:0001583	missense	196051				phospholipid dephosphorylation	integral to membrane	phosphatidate phosphatase activity	g.chr10:122280551G>A	AK098668	CCDS41573.1	10q26.13	2008-02-05		2005-07-15	ENSG00000203805	ENSG00000203805			23531	protein-coding gene	gene with protein product			"phosphatidic acid phosphatase type 2 domain containing 1"	PPAPDC1			Standard	XM_005269592		Approved		uc001lev.1	Q5VZY2	OTTHUMG00000019168	ENST00000398250.1:c.389G>A	10.37:g.122280551G>A	ENSP00000381302:p.Gly130Asp					PPAPDC1A_ENST00000369073.3_Missense_Mutation_p.G120D|PPAPDC1A_ENST00000439221.1_Intron|PPAPDC1A_ENST00000541332.1_Missense_Mutation_p.G130D|PPAPDC1A_ENST00000398248.1_Intron	p.G130D	NM_001030059.1	NP_001025230.1	Q5VZY2	PPC1A_HUMAN		all cancers(201;0.0117)	5	741	+		Lung NSC(174;0.1)|all_lung(145;0.132)	130					A2RU82|Q08EQ2|Q0IIP2|Q495B4|Q5VZY1	Missense_Mutation	SNP	ENST00000398250.1	37	c.389G>A	CCDS41573.1	.	.	.	.	.	.	.	.	.	.	G	33	5.216585	0.95104	.	.	ENSG00000203805	ENST00000398250;ENST00000427079;ENST00000541332;ENST00000369073	T;T;T;T	0.75821	-0.97;-0.97;-0.97;-0.97	5.75	5.75	0.90469	Phosphatidic acid phosphatase/chloroperoxidase, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.89061	0.6608	M	0.88031	2.925	0.80722	D	1	D;P	0.89917	1.0;0.948	D;D	0.97110	1.0;0.936	D	0.89488	0.3755	10	0.54805	T	0.06	-11.3739	19.9598	0.97242	0.0:0.0:1.0:0.0	.	130;130	B7Z3R3;Q5VZY2	.;PPC1A_HUMAN	D	130;130;130;120	ENSP00000381302:G130D;ENSP00000407979:G130D;ENSP00000440493:G130D;ENSP00000358069:G120D	ENSP00000358069:G120D	G	+	2	0	PPAPDC1A	122270541	1.000000	0.71417	0.996000	0.52242	0.987000	0.75469	9.476000	0.97823	2.716000	0.92895	0.655000	0.94253	GGT		0.493	PPAPDC1A-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		XM_113641		46	73	0	0	0	1	0	46	73					A	122280551	G	A	122280551	3	1	435	1	0	0	0	0	1	0	0	0	12293	1261	44	3	407	3	PPAPDC1A	10	122280551	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	45	122280551	13254196	4888	25813											
FGFR2	2263	broad.mit.edu	37	chr10	123310804	123310804	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctgaaagcttaattctacCttgtagcctccaatgcgatg	10	14	7	10	1	2	1	0	1	2	0	3	2	3	1	3	0	4	2	3	0	5	6			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:123310804C>A	ENST00000358487.5	-	5	896	c.624G>T	c.(622-624)aaG>aaT	p.K208N	FGFR2_ENST00000369060.4_Splice_Site_p.K208N|FGFR2_ENST00000369061.4_Splice_Site_p.K208N|FGFR2_ENST00000457416.2_Splice_Site_p.K208N|FGFR2_ENST00000369059.1_Splice_Site_p.K93N|FGFR2_ENST00000359354.2_Splice_Site_p.K208N|FGFR2_ENST00000357555.5_Splice_Site_p.K119N|FGFR2_ENST00000369056.1_Splice_Site_p.K208N|FGFR2_ENST00000356226.4_Splice_Site_p.K93N|FGFR2_ENST00000360144.3_Splice_Site_p.K119N|FGFR2_ENST00000346997.2_Splice_Site_p.K208N|FGFR2_ENST00000351936.6_Splice_Site_p.K208N|FGFR2_ENST00000490349.1_5'UTR	NM_000141.4	NP_000132.3	P21802	FGFR2_HUMAN	fibroblast growth factor receptor 2	208	Ig-like C2-type 2.				angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|axonogenesis (GO:0007409)|bone development (GO:0060348)|bone mineralization (GO:0030282)|bone morphogenesis (GO:0060349)|branch elongation involved in salivary gland morphogenesis (GO:0060667)|branching involved in labyrinthine layer morphogenesis (GO:0060670)|branching involved in prostate gland morphogenesis (GO:0060442)|branching involved in salivary gland morphogenesis (GO:0060445)|branching morphogenesis of a nerve (GO:0048755)|bud elongation involved in lung branching (GO:0060449)|cell fate commitment (GO:0045165)|cell-cell signaling (GO:0007267)|coronal suture morphogenesis (GO:0060365)|digestive tract development (GO:0048565)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic organ development (GO:0048568)|embryonic organ morphogenesis (GO:0048562)|embryonic pattern specification (GO:0009880)|endodermal digestive tract morphogenesis (GO:0061031)|epidermal growth factor receptor signaling pathway (GO:0007173)|epidermis morphogenesis (GO:0048730)|epithelial cell differentiation (GO:0030855)|epithelial cell proliferation involved in salivary gland morphogenesis (GO:0060664)|epithelial to mesenchymal transition (GO:0001837)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|fibroblast growth factor receptor signaling pathway involved in hemopoiesis (GO:0035603)|fibroblast growth factor receptor signaling pathway involved in mammary gland specification (GO:0060595)|fibroblast growth factor receptor signaling pathway involved in negative regulation of apoptotic process in bone marrow (GO:0035602)|fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development (GO:0035607)|fibroblast growth factor receptor signaling pathway involved in positive regulation of cell proliferation in bone marrow (GO:0035604)|gland morphogenesis (GO:0022612)|hair follicle morphogenesis (GO:0031069)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inner ear morphogenesis (GO:0042472)|insulin receptor signaling pathway (GO:0008286)|lacrimal gland development (GO:0032808)|lateral sprouting from an epithelium (GO:0060601)|lens fiber cell development (GO:0070307)|limb bud formation (GO:0060174)|lung alveolus development (GO:0048286)|lung development (GO:0030324)|lung lobe morphogenesis (GO:0060463)|lung-associated mesenchyme development (GO:0060484)|mammary gland bud formation (GO:0060615)|membranous septum morphogenesis (GO:0003149)|mesenchymal cell differentiation (GO:0048762)|mesenchymal cell differentiation involved in lung development (GO:0060915)|mesenchymal cell proliferation involved in lung development (GO:0060916)|mesodermal cell differentiation (GO:0048333)|midbrain development (GO:0030901)|morphogenesis of embryonic epithelium (GO:0016331)|multicellular organism growth (GO:0035264)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of mitosis (GO:0045839)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuromuscular junction development (GO:0007528)|neurotrophin TRK receptor signaling pathway (GO:0048011)|odontogenesis (GO:0042476)|orbitofrontal cortex development (GO:0021769)|organ growth (GO:0035265)|organ morphogenesis (GO:0009887)|otic vesicle formation (GO:0030916)|outflow tract septum morphogenesis (GO:0003148)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial cell proliferation involved in lung morphogenesis (GO:0060501)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of Wnt signaling pathway (GO:0030177)|post-embryonic development (GO:0009791)|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis (GO:0060527)|prostate epithelial cord elongation (GO:0060523)|prostate gland morphogenesis (GO:0060512)|protein autophosphorylation (GO:0046777)|pyramidal neuron development (GO:0021860)|regulation of branching involved in prostate gland morphogenesis (GO:0060687)|regulation of cell fate commitment (GO:0010453)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|regulation of morphogenesis of a branching structure (GO:0060688)|regulation of multicellular organism growth (GO:0040014)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoblast proliferation (GO:0033688)|regulation of smooth muscle cell differentiation (GO:0051150)|regulation of smoothened signaling pathway (GO:0008589)|reproductive structure development (GO:0048608)|skeletal system morphogenesis (GO:0048705)|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development (GO:0060529)|synaptic vesicle transport (GO:0048489)|ureteric bud development (GO:0001657)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|ventricular zone neuroblast division (GO:0021847)	cell cortex (GO:0005938)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|excitatory synapse (GO:0060076)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|fibroblast growth factor binding (GO:0017134)|fibroblast growth factor-activated receptor activity (GO:0005007)|heparin binding (GO:0008201)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)			breast(3)|central_nervous_system(3)|cervix(2)|endometrium(98)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|lung(21)|ovary(4)|skin(30)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(2)	181		Lung NSC(174;0.0841)|all_lung(145;0.106)|all_neural(114;0.107)	STAD - Stomach adenocarcinoma(1;7.52e-05)|all cancers(1;0.0722)	all cancers(201;9.73e-05)|GBM - Glioblastoma multiforme(135;0.0845)	Palifermin(DB00039)|Ponatinib(DB08901)|Regorafenib(DB08896)|Thalidomide(DB01041)	TTAATTCTACCTTGTAGCCTC	0.448		5	Mis		"gastric. NSCLC, endometrial"		"Crouzon, Pfeiffer, and Apert syndromes"		Saethre-Chotzen syndrome;Apert syndrome																													ENST00000358487.5		5		Dom	yes		10	10q26	2263	Mis	fibroblast growth factor receptor 2	yes	"Crouzon, Pfeiffer, and Apert syndromes"	E			"gastric. NSCLC, endometrial"		0				breast(3)|central_nervous_system(3)|cervix(2)|endometrium(98)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|lung(21)|ovary(4)|skin(30)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(2)	181						c.e5+1		fibroblast growth factor receptor 2	Palifermin(DB00039)						118	115	116					10																	123310804		2203	4300	6503	SO:0001630	splice_region_variant	2263	Saethre-Chotzen syndrome;Apert syndrome	Familial Cancer Database	Acrocephalosyndactyly type III;Acrocephalosyndactyly type I and II, ACS1. ACS2, incl Apert-Crouzon s.	angiogenesis|axonogenesis|bone mineralization|bone morphogenesis|branch elongation involved in salivary gland morphogenesis|branching involved in embryonic placenta morphogenesis|branching morphogenesis of a nerve|bud elongation involved in lung branching|cell fate commitment|cell growth|cell-cell signaling|cellular response to protein stimulus|embryonic digestive tract morphogenesis|embryonic pattern specification|epithelial cell proliferation involved in salivary gland morphogenesis|fibroblast growth factor receptor signaling pathway involved in hemopoiesis|fibroblast growth factor receptor signaling pathway involved in mammary gland specification|fibroblast growth factor receptor signaling pathway involved in negative regulation of apoptosis in bone marrow|fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development|fibroblast growth factor receptor signaling pathway involved in positive regulation of cell proliferation in bone marrow|hair follicle morphogenesis|insulin receptor signaling pathway|lacrimal gland development|lateral sprouting from an epithelium|limb bud formation|lung alveolus development|lung lobe morphogenesis|lung-associated mesenchyme development|mammary gland bud formation|membranous septum morphogenesis|mesenchymal cell differentiation involved in lung development|mesenchymal cell proliferation involved in lung development|midbrain development|multicellular organism growth|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|organ growth|otic vesicle formation|outflow tract septum morphogenesis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell cycle|positive regulation of cell division|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of ERK1 and ERK2 cascade|positive regulation of mesenchymal cell proliferation|positive regulation of transcription from RNA polymerase II promoter|post-embryonic development|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis|prostate epithelial cord elongation|pyramidal neuron development|regulation of branching involved in prostate gland morphogenesis|regulation of cell fate commitment|regulation of fibroblast growth factor receptor signaling pathway|regulation of multicellular organism growth|regulation of smooth muscle cell differentiation|regulation of smoothened signaling pathway|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development|ureteric bud development|ventricular cardiac muscle tissue morphogenesis|ventricular zone neuroblast division	cell cortex|cell surface|excitatory synapse|extracellular region|integral to membrane|nucleus|plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|heparin binding|protein binding	g.chr10:123310804C>A	AK026508	CCDS7620.2, CCDS31298.1, CCDS44485.1, CCDS44486.1, CCDS44487.1, CCDS44488.1, CCDS44489.1, CCDS53584.1, CCDS73210.1	10q25.3-q26	2013-01-11	2008-08-01		ENSG00000066468	ENSG00000066468		"CD molecules", "Immunoglobulin superfamily / I-set domain containing"	3689	protein-coding gene	gene with protein product	"Crouzon syndrome", "Pfeiffer syndrome"	176943	"bacteria-expressed kinase", "keratinocyte growth factor receptor", "craniofacial dysostosis 1", "Jackson-Weiss syndrome"	KGFR, BEK, CFD1, JWS			Standard	NM_022970		Approved	CEK3, TK14, TK25, ECT1, K-SAM, CD332	uc021pzy.1	P21802	OTTHUMG00000019175	ENST00000358487.5:c.624+1G>T	10.37:g.123310804C>A						FGFR2_ENST00000369060.4_Splice_Site_p.K208_splice|FGFR2_ENST00000356226.4_Splice_Site_p.K93_splice|FGFR2_ENST00000359354.2_Splice_Site_p.K208_splice|FGFR2_ENST00000457416.2_Splice_Site_p.K208_splice|FGFR2_ENST00000369061.4_Splice_Site_p.K208_splice|FGFR2_ENST00000360144.3_Splice_Site_p.K119_splice|FGFR2_ENST00000369059.1_Splice_Site_p.K93_splice|FGFR2_ENST00000490349.1_5'UTR|FGFR2_ENST00000357555.5_Splice_Site_p.K119_splice|FGFR2_ENST00000369056.1_Splice_Site_p.K208_splice|FGFR2_ENST00000351936.6_Splice_Site_p.K208_splice|FGFR2_ENST00000346997.2_Splice_Site_p.K208_splice	p.K208_splice	NM_000141.4	NP_000132.3	P21802	FGFR2_HUMAN	STAD - Stomach adenocarcinoma(1;7.52e-05)|all cancers(1;0.0722)	all cancers(201;9.73e-05)|GBM - Glioblastoma multiforme(135;0.0845)	5	896	-		Lung NSC(174;0.0841)|all_lung(145;0.106)|all_neural(114;0.107)	208			Ig-like C2-type 2.		B4DFC2|E7EVR6|E9PCR0|P18443|Q01742|Q12922|Q14300|Q14301|Q14302|Q14303|Q14304|Q14305|Q14672|Q14718|Q14719|Q1KHY5|Q86YI4|Q8IXC7|Q96KL9|Q96KM0|Q96KM1|Q96KM2|Q9NZU2|Q9NZU3|Q9UD01|Q9UD02|Q9UIH3|Q9UIH4|Q9UIH5|Q9UIH6|Q9UIH7|Q9UIH8|Q9UM87|Q9UMC6|Q9UNS7|Q9UQH7|Q9UQH8|Q9UQH9|Q9UQI0	Splice_Site	SNP	ENST00000358487.5	37	c.624_splice	CCDS31298.1	.	.	.	.	.	.	.	.	.	.	C	26.0	4.698974	0.88830	.	.	ENSG00000066468	ENST00000357555;ENST00000369062;ENST00000369061;ENST00000358487;ENST00000356226;ENST00000369060;ENST00000369059;ENST00000346997;ENST00000457416;ENST00000351936;ENST00000360144;ENST00000369056;ENST00000369058;ENST00000336553;ENST00000359354	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.68624	-0.34;-0.34;-0.34;-0.34;-0.34;-0.34;-0.34;-0.34;-0.34;-0.34;-0.34;-0.34;-0.34;-0.34	4.89	4.89	0.63831	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.092939	0.64402	D	0.000001	T	0.74756	0.3758	L	0.38733	1.17	0.80722	D	1	D;P;D;D;P;P;D;D;D;D;B;P	0.89917	0.98;0.863;0.962;1.0;0.578;0.523;0.98;0.965;0.973;0.998;0.317;0.941	D;P;P;D;P;P;P;P;D;D;B;P	0.79108	0.939;0.735;0.843;0.992;0.551;0.599;0.879;0.856;0.969;0.956;0.132;0.863	T	0.73550	-0.3947	9	.	.	.	.	18.0697	0.89402	0.0:1.0:0.0:0.0	.	227;227;93;208;227;208;119;93;208;227;119;208	D3DRD9;D3DRD4;B5A963;B5A960;D3DRD5;P21802-18;P21802-21;P21802-20;P21802;D3DRE0;P21802-22;P21802-17	.;.;.;.;.;.;.;.;FGFR2_HUMAN;.;.;.	N	119;208;208;208;93;208;93;208;208;208;119;208;208;119;208	ENSP00000350166:K119N;ENSP00000358057:K208N;ENSP00000351276:K208N;ENSP00000348559:K93N;ENSP00000358056:K208N;ENSP00000358055:K93N;ENSP00000263451:K208N;ENSP00000410294:K208N;ENSP00000309878:K208N;ENSP00000353262:K119N;ENSP00000358052:K208N;ENSP00000358054:K208N;ENSP00000337665:K119N;ENSP00000352309:K208N	.	K	-	3	2	FGFR2	123300794	1.000000	0.71417	1.000000	0.80357	0.927000	0.56198	4.863000	0.62983	2.255000	0.74692	0.609000	0.83330	AAG		0.448	FGFR2-001	KNOWN	non_canonical_conserved|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000050715.1	NM_022976, NM_000141	Missense_Mutation	28	53	1	0	5.45727e-16	1	5.98296e-16	28	53					A	123310804	C	A	123310804	5	1	435	1	0	0	0	0	0	0	1	0	5866	695	24	5	2153	5	FGFR2	10	123310804	Splice_Site	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	1030253	123310804	12223943	4889	25814											
ATE1	11101	broad.mit.edu	37	chr10	123600629	123600629	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tagacgcccaaagacaaaaaCgaataatcaggatcgtagta	19	6	8	8	3	1	2	1	0	0	2	2	4	1	3	1	1	1	2	1	1	8	4	rs139300996		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:123600629C>T	ENST00000224652.6	-	9	1210	c.1125G>A	c.(1123-1125)tcG>tcA	p.S375S	ATE1_ENST00000540606.1_Silent_p.S368S|ATE1_ENST00000481784.1_5'Flank|ATE1_ENST00000535655.1_Silent_p.S76S|ATE1_ENST00000543447.1_Silent_p.S260S|ATE1_ENST00000369040.3_Silent_p.S279S|ATE1_ENST00000369043.3_Silent_p.S375S	NM_001001976.1	NP_001001976.1	O95260	ATE1_HUMAN	arginyltransferase 1	375					protein arginylation (GO:0016598)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	arginyltransferase activity (GO:0004057)			endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		all_neural(114;0.061)|Lung NSC(174;0.095)|all_lung(145;0.124)|Breast(234;0.212)				AAGACAAAAACGAATAATCAG	0.393																																						ENST00000369043.3																			0				endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						c.(1123-1125)tcG>tcA		arginyltransferase 1		C	,	0,4406		0,0,2203	90	72	78		1125,1125	-5.3	0.9	10	dbSNP_134	78	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	ATE1	NM_001001976.1,NM_007041.2	,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,	375/519,375/519	123600629	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	11101				protein arginylation	cytoplasm|nucleus	acyltransferase activity|arginyltransferase activity	g.chr10:123600629C>T	AF079098	CCDS31299.1, CCDS31300.1, CCDS73211.1, CCDS73212.1, CCDS73213.1	10q26	2013-05-08			ENSG00000107669	ENSG00000107669	2.3.2.8		782	protein-coding gene	gene with protein product		607103				16002466, 16943202	Standard	XM_005269458		Approved		uc001lfq.3	O95260	OTTHUMG00000019178	ENST00000224652.6:c.1125G>A	10.37:g.123600629C>T						ATE1_ENST00000369040.3_Silent_p.S279S|ATE1_ENST00000543447.1_Silent_p.S260S|ATE1_ENST00000540606.1_Silent_p.S368S|ATE1_ENST00000224652.6_Silent_p.S375S|ATE1_ENST00000535655.1_Silent_p.S76S	p.S375S	NM_007041.2	NP_008972.2	O95260	ATE1_HUMAN			9	1211	-		all_neural(114;0.061)|Lung NSC(174;0.095)|all_lung(145;0.124)|Breast(234;0.212)	375					O95261|Q5SQQ3|Q8WW04	Silent	SNP	ENST00000224652.6	37	c.1125G>A	CCDS31300.1	.	.	.	.	.	.	.	.	.	.	C	10.03	1.237871	0.22711	0.0	1.16E-4	ENSG00000107669	ENST00000423243	.	.	.	5.64	-5.31	0.02730	.	.	.	.	.	T	0.38108	0.1028	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.37865	-0.9687	4	.	.	.	-19.3781	2.7073	0.05165	0.2104:0.2536:0.3955:0.1405	.	.	.	.	I	372	.	.	V	-	1	0	ATE1	123590619	0.137000	0.22531	0.894000	0.35097	0.857000	0.48899	-0.679000	0.05203	-0.902000	0.03886	-0.290000	0.09829	GTT		0.393	ATE1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_001001976		10	14	0	0	0	1	0	10	14					T	123600629	C	T	123600629	2	4	435	1	0	0	0	0	0	0	0	1	1078	523	19	1		1	ATE1	10	123600629	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	289825	123600629	11934118	4890	25815											
TACC2	10579	broad.mit.edu	37	chr10	123844901	123844901	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtcagtcctcgagggtctcGcctccagcagcagatgtctt	6	10	12	13	2	3	1	1	0	2	1	7	2	5	1	3	2	2	2	3	2	0	1	rs149803621	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:123844901G>A	ENST00000369005.1	+	4	3226	c.2886G>A	c.(2884-2886)tcG>tcA	p.S962S	TACC2_ENST00000334433.3_Silent_p.S962S|TACC2_ENST00000513429.1_Intron|TACC2_ENST00000453444.2_Silent_p.S962S|TACC2_ENST00000358010.1_Intron|TACC2_ENST00000515273.1_Silent_p.S962S|TACC2_ENST00000515603.1_Silent_p.S962S	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	962					astral microtubule organization (GO:0030953)|cerebral cortex development (GO:0021987)|interkinetic nuclear migration (GO:0022027)|neurogenesis (GO:0022008)|regulation of microtubule-based process (GO:0032886)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleus (GO:0005634)	nuclear hormone receptor binding (GO:0035257)			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				CGAGGGTCTCGCCTCCAGCAG	0.537																																						ENST00000369005.1																			0				NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83						c.(2884-2886)tcG>tcA		transforming, acidic coiled-coil containing protein 2		G	,	5,4401	9.9+/-24.2	0,5,2198	79	83	82		,2886	-9.9	0	10	dbSNP_134	82	0,8600		0,0,4300	no	intron,coding-synonymous	TACC2	NM_206861.1,NM_206862.2	,	0,5,6498	AA,AG,GG		0.0,0.1135,0.0384	,	,962/2949	123844901	5,13001	2203	4300	6503	SO:0001819	synonymous_variant	10579					microtubule organizing center|nucleus	nuclear hormone receptor binding	g.chr10:123844901G>A	AF095791	CCDS7625.1, CCDS7626.1, CCDS7627.1, CCDS7628.1	10q26	2008-07-29			ENSG00000138162	ENSG00000138162			11523	protein-coding gene	gene with protein product		605302				14767476	Standard	XM_005269388		Approved	AZU-1	uc001lfv.3	O95359	OTTHUMG00000019181	ENST00000369005.1:c.2886G>A	10.37:g.123844901G>A						TACC2_ENST00000515603.1_Silent_p.S962S|TACC2_ENST00000334433.3_Silent_p.S962S|TACC2_ENST00000453444.2_Silent_p.S962S|TACC2_ENST00000515273.1_Silent_p.S962S|TACC2_ENST00000358010.1_Intron|TACC2_ENST00000513429.1_Intron	p.S962S	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN			4	3226	+		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)	962					Q4VXL0|Q4VXL3|Q4VXL6|Q4VXL7|Q5U5T7|Q86WG6|Q86WG7|Q8TCK9|Q9BVQ1|Q9NZ41|Q9NZR5	Silent	SNP	ENST00000369005.1	37	c.2886G>A	CCDS7626.1																																																																																				0.537	TACC2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090004.1			12	63	0	0	0	1	0	12	63					A	123844901	G	A	123844901	2	1	435	1	0	0	0	0	0	0	0	1	15499	1074	38	1		1	TACC2	10	123844901	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	244272	123844901	11689846	4891	25816											
TACC2	10579	broad.mit.edu	37	chr10	124008246	124008246	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gccctggccgacctgaactcCgtggagaagtctctggccga	7	7	13	14	3	1	2	0	1	1	1	3	5	2	2	5	3	1	0	5	3	2	0	rs201589274		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:124008246C>T	ENST00000369005.1	+	20	8821	c.8481C>T	c.(8479-8481)tcC>tcT	p.S2827S	TACC2_ENST00000369004.3_Silent_p.S887S|TACC2_ENST00000334433.3_Silent_p.S2827S|TACC2_ENST00000513429.1_Silent_p.S973S|TACC2_ENST00000453444.2_Silent_p.S2754S|TACC2_ENST00000358010.1_Silent_p.S973S|TACC2_ENST00000369000.1_Silent_p.S450S|TACC2_ENST00000515273.1_Silent_p.S2754S|TACC2_ENST00000360561.3_Silent_p.S875S|TACC2_ENST00000369001.1_Silent_p.S454S|TACC2_ENST00000368999.1_Silent_p.S917S|TACC2_ENST00000515603.1_Silent_p.S2705S|TACC2_ENST00000260733.3_Silent_p.S905S	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	2827					astral microtubule organization (GO:0030953)|cerebral cortex development (GO:0021987)|interkinetic nuclear migration (GO:0022027)|neurogenesis (GO:0022008)|regulation of microtubule-based process (GO:0032886)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleus (GO:0005634)	nuclear hormone receptor binding (GO:0035257)	p.S2827S(1)		NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				ACCTGAACTCCGTGGAGAAGT	0.582																																						ENST00000369005.1																			1	Substitution - coding silent(1)	p.S2827S(1)	lung(1)	NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83						c.(8479-8481)tcC>tcT		transforming, acidic coiled-coil containing protein 2							106	114	111					10																	124008246		2203	4300	6503	SO:0001819	synonymous_variant	10579					microtubule organizing center|nucleus	nuclear hormone receptor binding	g.chr10:124008246C>T	AF095791	CCDS7625.1, CCDS7626.1, CCDS7627.1, CCDS7628.1	10q26	2008-07-29			ENSG00000138162	ENSG00000138162			11523	protein-coding gene	gene with protein product		605302				14767476	Standard	XM_005269388		Approved	AZU-1	uc001lfv.3	O95359	OTTHUMG00000019181	ENST00000369005.1:c.8481C>T	10.37:g.124008246C>T						TACC2_ENST00000515603.1_Silent_p.S2705S|TACC2_ENST00000334433.3_Silent_p.S2827S|TACC2_ENST00000369004.3_Silent_p.S887S|TACC2_ENST00000260733.3_Silent_p.S905S|TACC2_ENST00000368999.1_Silent_p.S917S|TACC2_ENST00000453444.2_Silent_p.S2754S|TACC2_ENST00000515273.1_Silent_p.S2754S|TACC2_ENST00000360561.3_Silent_p.S875S|TACC2_ENST00000369000.1_Silent_p.S450S|TACC2_ENST00000369001.1_Silent_p.S454S|TACC2_ENST00000358010.1_Silent_p.S973S|TACC2_ENST00000513429.1_Silent_p.S973S	p.S2827S	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN			20	8821	+		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)	2827					Q4VXL0|Q4VXL3|Q4VXL6|Q4VXL7|Q5U5T7|Q86WG6|Q86WG7|Q8TCK9|Q9BVQ1|Q9NZ41|Q9NZR5	Silent	SNP	ENST00000369005.1	37	c.8481C>T	CCDS7626.1	.	.	.	.	.	.	.	.	.	.	C	0.017	-1.494307	0.01009	.	.	ENSG00000138162	ENST00000490979	.	.	.	5.29	-8.71	0.00848	.	.	.	.	.	T	0.34978	0.0916	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.40384	-0.9566	4	.	.	.	-16.984	2.8576	0.05576	0.1354:0.1314:0.3024:0.4308	.	.	.	.	L	71	.	.	P	+	2	0	TACC2	123998236	0.000000	0.05858	0.541000	0.28102	0.195000	0.23768	-5.872000	0.00093	-1.695000	0.01423	-1.799000	0.00621	CCG		0.582	TACC2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090004.1			26	52	0	0	0	1	0	26	52					T	124008246	C	T	124008246	2	4	435	1	0	0	0	0	0	0	0	1	15499	639	23	2		2	TACC2	10	124008246	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	163345	124008246	11526501	4892	25817											
PLEKHA1	59338	broad.mit.edu	37	chr10	124157456	124157456	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctaccttctggatcatcacGtgttggagccattaagctta	9	13	8	11	1	3	0	2	0	1	0	3	2	3	2	3	2	3	2	3	2	3	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:124157456G>A	ENST00000368990.3	+	3	295	c.164G>A	c.(163-165)cGt>cAt	p.R55H	PLEKHA1_ENST00000494222.1_3'UTR|PLEKHA1_ENST00000433307.1_Missense_Mutation_p.R55H|PLEKHA1_ENST00000538022.1_Missense_Mutation_p.R55H|PLEKHA1_ENST00000368988.1_Missense_Mutation_p.R55H|PLEKHA1_ENST00000368989.2_Missense_Mutation_p.R55H	NM_001001974.2	NP_001001974.1	Q9HB21	PKHA1_HUMAN	pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 1	55	PH 1. {ECO:0000255|PROSITE- ProRule:PRU00145}.				androgen metabolic process (GO:0008209)|B cell receptor signaling pathway (GO:0050853)|cellular response to hydrogen peroxide (GO:0070301)|establishment of protein localization (GO:0045184)|estrogen metabolic process (GO:0008210)|face morphogenesis (GO:0060325)|Leydig cell differentiation (GO:0033327)|luteinization (GO:0001553)|multicellular organism growth (GO:0035264)|negative regulation of protein kinase B signaling (GO:0051898)|palate development (GO:0060021)|phosphatidylinositol 3-kinase signaling (GO:0014065)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|post-embryonic development (GO:0009791)|ruffle organization (GO:0031529)|skeletal system morphogenesis (GO:0048705)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|urinary_tract(1)	13		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				GGATCATCACGTGTTGGAGCC	0.294																																						ENST00000368988.1																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|urinary_tract(1)	13						c.(163-165)cGt>cAt		pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 1							128	125	126					10																	124157456		2203	4300	6503	SO:0001583	missense	59338				B cell receptor signaling pathway|cellular response to hydrogen peroxide|establishment of protein localization|negative regulation of protein kinase B signaling cascade|phosphatidylinositol 3-kinase cascade|ruffle organization	cytoplasm|nucleus|ruffle membrane	PDZ domain binding|phosphatidylinositol-3,4-bisphosphate binding	g.chr10:124157456G>A	AF286160	CCDS7629.1, CCDS55730.1	10q26.3	2013-01-10	2002-01-14		ENSG00000107679	ENSG00000107679		"Pleckstrin homology (PH) domain containing"	14335	protein-coding gene	gene with protein product	"tandem PH domain containing protein-1"	607772	"pleckstrin homology domain-containing, family A (phosphoinositide binding specific) member 1"			11001876, 15485858	Standard	NM_001001974		Approved	TAPP1	uc001lge.2	Q9HB21	OTTHUMG00000019184	ENST00000368990.3:c.164G>A	10.37:g.124157456G>A	ENSP00000357986:p.Arg55His					PLEKHA1_ENST00000433307.1_Missense_Mutation_p.R55H|PLEKHA1_ENST00000538022.1_Missense_Mutation_p.R55H|PLEKHA1_ENST00000494222.1_3'UTR|PLEKHA1_ENST00000368989.2_Missense_Mutation_p.R55H|PLEKHA1_ENST00000368990.3_Missense_Mutation_p.R55H	p.R55H			Q9HB21	PKHA1_HUMAN			3	287	+		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)	55			PH 1.		B3KQ55|D3DRE2|Q9BVK0	Missense_Mutation	SNP	ENST00000368990.3	37	c.164G>A	CCDS7629.1	.	.	.	.	.	.	.	.	.	.	G	12.56	1.973257	0.34848	.	.	ENSG00000107679	ENST00000368990;ENST00000368989;ENST00000409427;ENST00000368988;ENST00000538022;ENST00000392799;ENST00000433307	T;T;T;T;T;T	0.75477	-0.94;-0.94;-0.94;-0.94;-0.94;-0.94	5.41	4.44	0.53790	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.387251	0.32769	N	0.005671	T	0.43233	0.1238	N	0.00707	-1.245	0.28917	N	0.892359	P;B	0.39116	0.66;0.001	B;B	0.35899	0.213;0.005	T	0.50783	-0.8787	10	0.40728	T	0.16	-8.722	14.3122	0.66424	0.0:0.2134:0.7866:0.0	.	55;55	B3KQ55;Q9HB21	.;PKHA1_HUMAN	H	55	ENSP00000357986:R55H;ENSP00000357985:R55H;ENSP00000357984:R55H;ENSP00000438608:R55H;ENSP00000376547:R55H;ENSP00000394416:R55H	ENSP00000357984:R55H	R	+	2	0	PLEKHA1	124147446	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.060000	0.49955	2.697000	0.92050	0.655000	0.94253	CGT		0.294	PLEKHA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050783.1	NM_001001974		6	60	0	0	0	1	0	6	60					A	124157456	G	A	124157456	3	1	435	1	0	0	0	0	1	0	0	0	12055	1145	40	1	170	1	PLEKHA1	10	124157456	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	149210	124157456	11377291	4893	25818											
DMBT1	1755	broad.mit.edu	37	chr10	124380768	124380768	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	aaatgcccggtttggccaggGctcaggacccattgtcctgg	7	9	13	12	1	1	0	1	0	0	0	2	1	2	1	4	5	1	2	4	5	1	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:124380768G>A	ENST00000338354.3	+	41	5199	c.5093G>A	c.(5092-5094)gGc>gAc	p.G1698D	DMBT1_ENST00000359586.6_Intron|DMBT1_ENST00000368909.3_Missense_Mutation_p.G1698D|DMBT1_ENST00000330163.4_Missense_Mutation_p.G1070D|DMBT1_ENST00000344338.3_Missense_Mutation_p.G1688D|DMBT1_ENST00000368956.2_Missense_Mutation_p.G1070D|DMBT1_ENST00000368955.3_Missense_Mutation_p.G1688D			Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	1698	SRCR 13. {ECO:0000255|PROSITE- ProRule:PRU00196}.				defense response to virus (GO:0051607)|epithelial cell differentiation (GO:0030855)|induction of bacterial agglutination (GO:0043152)|innate immune response (GO:0045087)|inner cell mass cell proliferation (GO:0001833)|pattern recognition receptor signaling pathway (GO:0002221)|positive regulation of epithelial cell differentiation (GO:0030858)|protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)|viral process (GO:0016032)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|phagocytic vesicle membrane (GO:0030670)|proteinaceous extracellular matrix (GO:0005578)|zymogen granule membrane (GO:0042589)	calcium-dependent protein binding (GO:0048306)|scavenger receptor activity (GO:0005044)|signaling pattern recognition receptor activity (GO:0008329)|zymogen binding (GO:0035375)			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				TTTGGCCAGGGCTCAGGACCC	0.607																																					Ovarian(182;93 2026 18125 22222 38972)	ENST00000338354.3																			0				breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72						c.(5092-5094)gGc>gAc		deleted in malignant brain tumors 1							139	141	141					10																	124380768		1969	4158	6127	SO:0001583	missense	1755				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding	g.chr10:124380768G>A		CCDS44490.1, CCDS44491.1, CCDS44492.1	10q25.3-q26.1	2008-08-01			ENSG00000187908	ENSG00000187908			2926	protein-coding gene	gene with protein product		601969				9288095, 17548659	Standard	NM_004406		Approved	GP340, muclin	uc001lgk.1	Q9UGM3	OTTHUMG00000019185	ENST00000338354.3:c.5093G>A	10.37:g.124380768G>A	ENSP00000342210:p.Gly1698Asp					DMBT1_ENST00000344338.3_Missense_Mutation_p.G1688D|DMBT1_ENST00000368909.3_Missense_Mutation_p.G1698D|DMBT1_ENST00000368955.3_Missense_Mutation_p.G1688D|DMBT1_ENST00000359586.6_Intron|DMBT1_ENST00000330163.4_Missense_Mutation_p.G1070D|DMBT1_ENST00000368956.2_Missense_Mutation_p.G1070D	p.G1698D			Q9UGM3	DMBT1_HUMAN			41	5199	+		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)	1698			SRCR 13.		A6NDG4|A6NDJ5|A8E4R5|B1ARE7|B1ARE8|B1ARE9|B1ARF0|B7Z8Y2|F8WEF7|Q59EX0|Q5JR26|Q6MZN4|Q96DU4|Q9UGM2|Q9UJ57|Q9UKJ4|Q9Y211|Q9Y4V9	Missense_Mutation	SNP	ENST00000338354.3	37	c.5093G>A		.	.	.	.	.	.	.	.	.	.	-	17.14	3.313024	0.60414	.	.	ENSG00000187908	ENST00000338354;ENST00000368915;ENST00000341278;ENST00000368953;ENST00000339871;ENST00000368942;ENST00000327438;ENST00000344338;ENST00000339712;ENST00000330163;ENST00000368909;ENST00000368955;ENST00000368956	T;T;T;T;T;T	0.72051	-0.62;-0.62;-0.62;-0.62;-0.62;-0.62	3.79	3.79	0.43588	Speract/scavenger receptor (2);Speract/scavenger receptor-related (2);	0.000000	0.46145	D	0.000310	D	0.89996	0.6877	H	0.98664	4.295	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;1.0	D	0.94075	0.7339	10	0.87932	D	0	.	15.5889	0.76510	0.0:0.0:1.0:0.0	.	1698;947;1827;1070;1688;1698	Q9UGM3-5;Q9UGM3-8;Q9UGM3-6;Q9UGM3-2;Q9UGM3-3;Q9UGM3	.;.;.;.;.;DMBT1_HUMAN	D	1698;1827;1698;1698;1698;1698;1070;1688;1070;1070;1698;1688;1070	ENSP00000342210:G1698D;ENSP00000343175:G1688D;ENSP00000327747:G1070D;ENSP00000357905:G1698D;ENSP00000357951:G1688D;ENSP00000357952:G1070D	ENSP00000331522:G1070D	G	+	2	0	DMBT1	124370758	1.000000	0.71417	0.999000	0.59377	0.194000	0.23727	9.265000	0.95647	2.068000	0.61886	0.461000	0.40582	GGC		0.607	DMBT1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000050792.2	NM_004406		74	118	0	0	0	1	0	74	118					A	124380768	G	A	124380768	3	1	435	1	0	0	0	0	1	0	0	0	4577	1203	42	3	5255	3	DMBT1	10	124380768	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	223312	124380768	11153979	4894	25819											
DMBT1	1755	broad.mit.edu	37	chr10	124390529	124390529	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tcctatggtctatgtgccggGcgtgtagaaatttaccatgg	8	13	12	8	2	1	1	0	0	1	1	2	1	2	1	3	3	2	1	3	3	5	5	rs375865088		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:124390529G>A	ENST00000338354.3	+	46	5797	c.5691G>A	c.(5689-5691)ggG>ggA	p.G1897G	DMBT1_ENST00000359586.6_Silent_p.G617G|DMBT1_ENST00000368909.3_Silent_p.G1897G|DMBT1_ENST00000330163.4_Silent_p.G1269G|DMBT1_ENST00000344338.3_Silent_p.G1887G|DMBT1_ENST00000368956.2_Silent_p.G1269G|DMBT1_ENST00000368955.3_Silent_p.G1887G			Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	1897	SRCR 14. {ECO:0000255|PROSITE- ProRule:PRU00196}.				defense response to virus (GO:0051607)|epithelial cell differentiation (GO:0030855)|induction of bacterial agglutination (GO:0043152)|innate immune response (GO:0045087)|inner cell mass cell proliferation (GO:0001833)|pattern recognition receptor signaling pathway (GO:0002221)|positive regulation of epithelial cell differentiation (GO:0030858)|protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)|viral process (GO:0016032)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|phagocytic vesicle membrane (GO:0030670)|proteinaceous extracellular matrix (GO:0005578)|zymogen granule membrane (GO:0042589)	calcium-dependent protein binding (GO:0048306)|scavenger receptor activity (GO:0005044)|signaling pattern recognition receptor activity (GO:0008329)|zymogen binding (GO:0035375)			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				TATGTGCCGGGCGTGTAGAAA	0.488																																					Ovarian(182;93 2026 18125 22222 38972)	ENST00000338354.3																			0				breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72						c.(5689-5691)ggG>ggA		deleted in malignant brain tumors 1		G	,,	1,3925		0,1,1962	130	123	125		3807,5691,5661	-5.1	0.2	10		125	0,8270		0,0,4135	no	coding-synonymous,coding-synonymous,coding-synonymous	DMBT1	NM_004406.2,NM_007329.2,NM_017579.2	,,	0,1,6097	AA,AG,GG		0.0,0.0255,0.0082	,,	1269/1786,1897/2414,1887/2404	124390529	1,12195	1963	4135	6098	SO:0001819	synonymous_variant	1755				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding	g.chr10:124390529G>A		CCDS44490.1, CCDS44491.1, CCDS44492.1	10q25.3-q26.1	2008-08-01			ENSG00000187908	ENSG00000187908			2926	protein-coding gene	gene with protein product		601969				9288095, 17548659	Standard	NM_004406		Approved	GP340, muclin	uc001lgk.1	Q9UGM3	OTTHUMG00000019185	ENST00000338354.3:c.5691G>A	10.37:g.124390529G>A						DMBT1_ENST00000344338.3_Silent_p.G1887G|DMBT1_ENST00000368909.3_Silent_p.G1897G|DMBT1_ENST00000368955.3_Silent_p.G1887G|DMBT1_ENST00000359586.6_Silent_p.G617G|DMBT1_ENST00000330163.4_Silent_p.G1269G|DMBT1_ENST00000368956.2_Silent_p.G1269G	p.G1897G			Q9UGM3	DMBT1_HUMAN			46	5797	+		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)	1897			SRCR 14.		A6NDG4|A6NDJ5|A8E4R5|B1ARE7|B1ARE8|B1ARE9|B1ARF0|B7Z8Y2|F8WEF7|Q59EX0|Q5JR26|Q6MZN4|Q96DU4|Q9UGM2|Q9UJ57|Q9UKJ4|Q9Y211|Q9Y4V9	Silent	SNP	ENST00000338354.3	37	c.5691G>A																																																																																					0.488	DMBT1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000050792.2	NM_004406		5	42	0	0	0	1	0	5	42					A	124390529	G	A	124390529	2	1	435	1	0	0	0	0	0	0	0	1	4577	1190	42	3		3	DMBT1	10	124390529	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	9761	124390529	11144218	4895	25820											
DMBT1	1755	broad.mit.edu	37	chr10	124402700	124402700	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcttcgcattgcccgcttccGgttcagggccttccacttcc	3	13	8	17	3	2	0	1	0	1	0	6	0	5	0	5	2	1	3	5	2	0	6			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:124402700G>A	ENST00000338354.3	+	53	7134	c.7028G>A	c.(7027-7029)cGg>cAg	p.R2343Q	DMBT1_ENST00000359586.6_Missense_Mutation_p.R1063Q|DMBT1_ENST00000368909.3_Missense_Mutation_p.R2343Q|DMBT1_ENST00000330163.4_Missense_Mutation_p.R1715Q|DMBT1_ENST00000344338.3_Missense_Mutation_p.R2333Q|DMBT1_ENST00000368956.2_Missense_Mutation_p.R1715Q|DMBT1_ENST00000368955.3_Missense_Mutation_p.R2333Q			Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	2343	ZP. {ECO:0000255|PROSITE- ProRule:PRU00375}.				defense response to virus (GO:0051607)|epithelial cell differentiation (GO:0030855)|induction of bacterial agglutination (GO:0043152)|innate immune response (GO:0045087)|inner cell mass cell proliferation (GO:0001833)|pattern recognition receptor signaling pathway (GO:0002221)|positive regulation of epithelial cell differentiation (GO:0030858)|protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)|viral process (GO:0016032)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|phagocytic vesicle membrane (GO:0030670)|proteinaceous extracellular matrix (GO:0005578)|zymogen granule membrane (GO:0042589)	calcium-dependent protein binding (GO:0048306)|scavenger receptor activity (GO:0005044)|signaling pattern recognition receptor activity (GO:0008329)|zymogen binding (GO:0035375)			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				GCCCGCTTCCGGTTCAGGGCC	0.582																																					Ovarian(182;93 2026 18125 22222 38972)	ENST00000338354.3																			0				breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72						c.(7027-7029)cGg>cAg		deleted in malignant brain tumors 1							116	125	122					10																	124402700		2062	4204	6266	SO:0001583	missense	1755				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding	g.chr10:124402700G>A		CCDS44490.1, CCDS44491.1, CCDS44492.1	10q25.3-q26.1	2008-08-01			ENSG00000187908	ENSG00000187908			2926	protein-coding gene	gene with protein product		601969				9288095, 17548659	Standard	NM_004406		Approved	GP340, muclin	uc001lgk.1	Q9UGM3	OTTHUMG00000019185	ENST00000338354.3:c.7028G>A	10.37:g.124402700G>A	ENSP00000342210:p.Arg2343Gln					DMBT1_ENST00000344338.3_Missense_Mutation_p.R2333Q|DMBT1_ENST00000368909.3_Missense_Mutation_p.R2343Q|DMBT1_ENST00000368955.3_Missense_Mutation_p.R2333Q|DMBT1_ENST00000359586.6_Missense_Mutation_p.R1063Q|DMBT1_ENST00000330163.4_Missense_Mutation_p.R1715Q|DMBT1_ENST00000368956.2_Missense_Mutation_p.R1715Q	p.R2343Q			Q9UGM3	DMBT1_HUMAN			53	7134	+		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)	2343			ZP.		A6NDG4|A6NDJ5|A8E4R5|B1ARE7|B1ARE8|B1ARE9|B1ARF0|B7Z8Y2|F8WEF7|Q59EX0|Q5JR26|Q6MZN4|Q96DU4|Q9UGM2|Q9UJ57|Q9UKJ4|Q9Y211|Q9Y4V9	Missense_Mutation	SNP	ENST00000338354.3	37	c.7028G>A		.	.	.	.	.	.	.	.	.	.	G	12.01	1.810830	0.32053	.	.	ENSG00000187908	ENST00000338354;ENST00000368915;ENST00000341278;ENST00000368953;ENST00000339871;ENST00000368942;ENST00000327438;ENST00000344338;ENST00000339712;ENST00000330163;ENST00000368909;ENST00000368955;ENST00000368956;ENST00000344467;ENST00000359586	D;D;D;D;D;D;D	0.81659	-1.52;-1.52;-1.52;-1.52;-1.52;-1.52;-1.52	5.28	-1.71	0.08133	Zona pellucida sperm-binding protein (3);	1.062570	0.07505	U	0.907867	T	0.70727	0.3257	N	0.04203	-0.255	0.09310	N	1	B;D;B;B;B;B;B	0.76494	0.072;0.999;0.072;0.072;0.072;0.072;0.088	B;D;B;B;B;B;B	0.64595	0.009;0.927;0.009;0.014;0.009;0.014;0.025	T	0.59910	-0.7365	10	0.48119	T	0.1	.	2.0398	0.03548	0.3582:0.2227:0.3097:0.1094	.	1063;2323;1592;2472;1715;2333;2343	F8WEF7;Q9UGM3-5;Q9UGM3-8;Q9UGM3-6;Q9UGM3-2;Q9UGM3-3;Q9UGM3	.;.;.;.;.;.;DMBT1_HUMAN	Q	2343;2472;2343;2343;2343;2342;1715;2333;1715;1715;2343;2333;1715;489;1063	ENSP00000342210:R2343Q;ENSP00000343175:R2333Q;ENSP00000327747:R1715Q;ENSP00000357905:R2343Q;ENSP00000357951:R2333Q;ENSP00000357952:R1715Q;ENSP00000352593:R1063Q	ENSP00000331522:R1715Q	R	+	2	0	DMBT1	124392690	0.000000	0.05858	0.046000	0.18839	0.002000	0.02628	-0.138000	0.10374	-0.199000	0.10317	-0.302000	0.09304	CGG		0.582	DMBT1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000050792.2	NM_004406		10	101	0	0	0	1	0	10	101					A	124402700	G	A	124402700	3	1	435	1	0	0	0	0	1	0	0	0	4577	1116	39	2	7238	2	DMBT1	10	124402700	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	12171	124402700	11132047	4896	25821											
C10orf120	399814	broad.mit.edu	37	chr10	124457684	124457684	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accccagacagaaatgaggaGcgtgtaaacctttcaatgta	15	8	9	9	1	1	3	1	1	0	2	1	4	1	4	3	1	2	2	3	1	5	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:124457684G>A	ENST00000329446.4	-	3	604	c.573C>T	c.(571-573)cgC>cgT	p.R191R		NM_001010912.1	NP_001010912.1	Q5SQS8	CJ120_HUMAN	chromosome 10 open reading frame 120	191										endometrium(1)|kidney(1)|large_intestine(6)|lung(9)|skin(2)|stomach(1)|urinary_tract(1)	21		all_neural(114;0.169)|Glioma(114;0.222)				GAAATGAGGAGCGTGTAAACC	0.488																																						ENST00000329446.4																			0				endometrium(1)|kidney(1)|large_intestine(6)|lung(9)|skin(2)|stomach(1)|urinary_tract(1)	21						c.(571-573)cgC>cgT		chromosome 10 open reading frame 120							128	112	117					10																	124457684		2203	4300	6503	SO:0001819	synonymous_variant	399814							g.chr10:124457684G>A		CCDS31302.1	10q26.13	2012-06-12			ENSG00000183559	ENSG00000183559			25707	protein-coding gene	gene with protein product							Standard	NM_001010912		Approved	bA318C4.1	uc001lgn.3	Q5SQS8	OTTHUMG00000019187	ENST00000329446.4:c.573C>T	10.37:g.124457684G>A							p.R191R	NM_001010912.1	NP_001010912.1	Q5SQS8	CJ120_HUMAN			3	604	-		all_neural(114;0.169)|Glioma(114;0.222)	191					B2RU17	Silent	SNP	ENST00000329446.4	37	c.573C>T	CCDS31302.1																																																																																				0.488	C10orf120-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050803.1	NM_001010912		17	53	0	0	0	1	0	17	53					A	124457684	G	A	124457684	2	1	435	1	0	0	0	0	0	0	0	1	1590	958	34	3		3	C10orf120	10	124457684	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	54984	124457684	11077063	4897	25822											
FAM24A	118670	broad.mit.edu	37	chr10	124671241	124671241	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tggtgctcctaagtgttgtgTtctgtctttacttcaaagta	7	18	9	7	0	3	0	1	0	2	0	4	0	4	0	1	1	2	4	1	1	4	7			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:124671241T>C	ENST00000368894.1	+	2	212	c.91T>C	c.(91-93)Ttc>Ctc	p.F31L		NM_001029888.1	NP_001025059.1	A6NFZ4	FA24A_HUMAN	family with sequence similarity 24, member A	31						extracellular region (GO:0005576)				large_intestine(2)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	9		all_neural(114;0.169)|Glioma(114;0.222)		Colorectal(40;0.124)|COAD - Colon adenocarcinoma(40;0.141)		AAGTGTTGTGTTCTGTCTTTA	0.468																																						ENST00000368894.1																			0				large_intestine(2)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	9						c.(91-93)Ttc>Ctc		family with sequence similarity 24, member A							454	415	428					10																	124671241		2203	4300	6503	SO:0001583	missense	118670					extracellular region		g.chr10:124671241T>C		CCDS31304.1	10q26.13	2008-08-27			ENSG00000203795	ENSG00000203795			23470	protein-coding gene	gene with protein product							Standard	NM_001029888		Approved	AC073585.4	uc001lgv.3	A6NFZ4	OTTHUMG00000019193	ENST00000368894.1:c.91T>C	10.37:g.124671241T>C	ENSP00000357889:p.Phe31Leu						p.F31L	NM_001029888.1	NP_001025059.1	A6NFZ4	FA24A_HUMAN		Colorectal(40;0.124)|COAD - Colon adenocarcinoma(40;0.141)	2	212	+		all_neural(114;0.169)|Glioma(114;0.222)	31						Missense_Mutation	SNP	ENST00000368894.1	37	c.91T>C	CCDS31304.1	.	.	.	.	.	.	.	.	.	.	T	4.488	0.090479	0.08632	.	.	ENSG00000203795	ENST00000368894	.	.	.	3.61	-6.63	0.01807	.	1.814210	0.03505	N	0.218624	T	0.10766	0.0263	N	0.03608	-0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.23119	-1.0197	9	0.02654	T	1	.	2.2326	0.04000	0.1986:0.4347:0.0983:0.2683	.	31	A6NFZ4	FA24A_HUMAN	L	31	.	ENSP00000357889:F31L	F	+	1	0	FAM24A	124661231	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-3.356000	0.00499	-1.266000	0.02446	-0.381000	0.06696	TTC		0.468	FAM24A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050824.1	XM_058332		9	228	0	0	0	1	0	9	228					C	124671241	T	C	124671241	3	2	435	1	0	0	0	0	1	0	0	0	5547	1725	60	4	93	4	FAM24A	10	124671241	Missense_Mutation	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	213557	124671241	10863506	4898	25823											
ACADSB	36	broad.mit.edu	37	chr10	124813214	124813214	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcttccttttgcttaaggtaCgatatatgaaggagcttcca	10	14	9	8	1	0	1	0	1	0	0	2	3	2	2	2	2	3	4	2	2	5	8	rs374629804		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:124813214C>T	ENST00000358776.4	+	11	1246	c.1232C>T	c.(1231-1233)aCg>aTg	p.T411M	ACADSB_ENST00000368869.4_Missense_Mutation_p.T309M	NM_001609.3	NP_001600.1	P45954	ACDSB_HUMAN	acyl-CoA dehydrogenase, short/branched chain	411					branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|fatty acid metabolic process (GO:0006631)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	acyl-CoA dehydrogenase activity (GO:0003995)|flavin adenine dinucleotide binding (GO:0050660)			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	17		all_neural(114;0.0765)|Colorectal(57;0.102)|all_lung(145;0.11)|Lung NSC(174;0.163)		Colorectal(40;0.0811)|COAD - Colon adenocarcinoma(40;0.0835)	L-Isoleucine(DB00167)|Valproic Acid(DB00313)	GCTTAAGGTACGATATATGAA	0.443																																						ENST00000358776.4																			0				breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	17						c.(1231-1233)aCg>aTg		acyl-CoA dehydrogenase, short/branched chain	L-Isoleucine(DB00167)	C	MET/THR	0,4406		0,0,2203	152	138	143		1232	4.7	1	10		143	1,8599	1.2+/-3.3	0,1,4299	no	missense	ACADSB	NM_001609.3	81	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	411/433	124813214	1,13005	2203	4300	6503	SO:0001583	missense	36				branched chain family amino acid catabolic process|fatty acid metabolic process	mitochondrial matrix	flavin adenine dinucleotide binding	g.chr10:124813214C>T	U12778	CCDS7634.1	10q25-q26	2014-09-17	2010-04-30		ENSG00000196177	ENSG00000196177	1.3.99.-		91	protein-coding gene	gene with protein product		600301	"acyl-Coenzyme A dehydrogenase, short/branched chain"			7698750, 7759115	Standard	NM_001609		Approved	SBCAD, ACAD7	uc001lhb.3	P45954	OTTHUMG00000019200	ENST00000358776.4:c.1232C>T	10.37:g.124813214C>T	ENSP00000357873:p.Thr411Met					ACADSB_ENST00000368869.4_Missense_Mutation_p.T309M	p.T411M	NM_001609.3	NP_001600.1	P45954	ACDSB_HUMAN		Colorectal(40;0.0811)|COAD - Colon adenocarcinoma(40;0.0835)	11	1246	+		all_neural(114;0.0765)|Colorectal(57;0.102)|all_lung(145;0.11)|Lung NSC(174;0.163)	411					B4DQ51|Q5SQN6|Q96CX7	Missense_Mutation	SNP	ENST00000358776.4	37	c.1232C>T	CCDS7634.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.060852	0.76074	0.0	1.16E-4	ENSG00000196177	ENST00000368869;ENST00000358776	D;D	0.96522	-4.04;-4.04	5.61	4.7	0.59300	Acyl-CoA dehydrogenase/oxidase C-terminal (2);Acyl-CoA oxidase/dehydrogenase, type 1 (1);	0.331422	0.35436	N	0.003210	D	0.97300	0.9117	L	0.59912	1.85	0.53688	D	0.999976	D	0.76494	0.999	D	0.72338	0.977	D	0.97757	1.0218	10	0.72032	D	0.01	.	14.4665	0.67488	0.0:0.9283:0.0:0.0717	.	411	P45954	ACDSB_HUMAN	M	309;411	ENSP00000357862:T309M;ENSP00000357873:T411M	ENSP00000357873:T411M	T	+	2	0	ACADSB	124803204	0.849000	0.29639	0.965000	0.40720	0.858000	0.48976	4.508000	0.60441	1.349000	0.45751	0.643000	0.83706	ACG		0.443	ACADSB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050843.1	NM_001609		21	57	0	0	0	1	0	21	57					T	124813214	C	T	124813214	3	4	435	1	0	0	0	0	1	0	0	0	115	536	19	1	1274	1	ACADSB	10	124813214	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	141973	124813214	10721533	4899	25824											
GPR26	2849	broad.mit.edu	37	chr10	125426420	125426420	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagccggcggccagacgagcGcctgcgcttcgccgtcttca	5	6	13	17	7	2	1	1	0	1	1	3	2	2	1	4	2	3	1	4	2	0	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:125426420G>A	ENST00000284674.1	+	1	550	c.497G>A	c.(496-498)cGc>cAc	p.R166H		NM_153442.3	NP_703143.1	Q8NDV2	GPR26_HUMAN	G protein-coupled receptor 26	166					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(3)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	20		Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)				CCAGACGAGCGCCTGCGCTTC	0.682																																						ENST00000284674.1																			0				breast(3)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	20						c.(496-498)cGc>cAc		G protein-coupled receptor 26							23	20	21					10																	125426420		2203	4299	6502	SO:0001583	missense	2849				activation of adenylate cyclase activity by G-protein signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr10:125426420G>A		CCDS7636.1	10q26.2-q26.3	2012-08-21			ENSG00000154478	ENSG00000154478		"GPCR / Class A : Orphans"	4481	protein-coding gene	gene with protein product		604847					Standard	NM_153442		Approved		uc001lhh.3	Q8NDV2	OTTHUMG00000019204	ENST00000284674.1:c.497G>A	10.37:g.125426420G>A	ENSP00000284674:p.Arg166His						p.R166H	NM_153442.3	NP_703143.1	Q8NDV2	GPR26_HUMAN			1	550	+		Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)	166					Q2M2E2	Missense_Mutation	SNP	ENST00000284674.1	37	c.497G>A	CCDS7636.1	.	.	.	.	.	.	.	.	.	.	G	13.89	2.373110	0.42105	.	.	ENSG00000154478	ENST00000284674	T	0.37411	1.2	4.02	4.02	0.46733	GPCR, rhodopsin-like superfamily (1);	0.506639	0.20088	N	0.099508	T	0.15998	0.0385	N	0.14661	0.345	0.41330	D	0.987239	P	0.43826	0.818	B	0.32624	0.149	T	0.05784	-1.0864	10	0.15499	T	0.54	-28.0964	10.0662	0.42306	0.0932:0.0:0.9068:0.0	.	166	Q8NDV2	GPR26_HUMAN	H	166	ENSP00000284674:R166H	ENSP00000284674:R166H	R	+	2	0	GPR26	125416410	1.000000	0.71417	1.000000	0.80357	0.910000	0.53928	2.617000	0.46385	2.067000	0.61834	0.655000	0.94253	CGC		0.682	GPR26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050850.1			7	11	0	0	0	1	0	7	11					A	125426420	G	A	125426420	3	1	435	1	0	0	0	0	1	0	0	0	6684	1087	38	1	499	1	GPR26	10	125426420	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	613206	125426420	10108327	4900	25825											
CPXM2	119587	broad.mit.edu	37	chr10	125526622	125526622	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	agttgttgttgatgtcaattCcatcgtgggtccagcgtccc	6	14	11	10	2	1	1	1	1	0	0	5	1	4	1	3	1	1	3	3	1	1	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:125526622C>T	ENST00000241305.3	-	10	1500	c.1346G>A	c.(1345-1347)gGa>gAa	p.G449E	CPXM2_ENST00000368854.3_5'UTR	NM_198148.2	NP_937791.2	Q8N436	CPXM2_HUMAN	carboxypeptidase X (M14 family), member 2	449					cell adhesion (GO:0007155)	extracellular space (GO:0005615)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)	47		all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233)		COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237)		GATGTCAATTCCATCGTGGGT	0.542																																						ENST00000241305.3																			0				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)	47						c.(1345-1347)gGa>gAa		carboxypeptidase X (M14 family), member 2							138	130	133					10																	125526622		2203	4300	6503	SO:0001583	missense	119587				cell adhesion|proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding	g.chr10:125526622C>T	AY358565	CCDS7637.1	10q26	2012-02-10			ENSG00000121898	ENSG00000121898			26977	protein-coding gene	gene with protein product	"cytosolic carboxypeptidase"					12975309	Standard	NM_198148		Approved	UNQ676, CPX2	uc001lhk.1	Q8N436	OTTHUMG00000019206	ENST00000241305.3:c.1346G>A	10.37:g.125526622C>T	ENSP00000241305:p.Gly449Glu					CPXM2_ENST00000368854.3_5'UTR	p.G449E	NM_198148.2	NP_937791.2	Q8N436	CPXM2_HUMAN		COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237)	10	1500	-		all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233)	449					B4E3Q2	Missense_Mutation	SNP	ENST00000241305.3	37	c.1346G>A	CCDS7637.1	.	.	.	.	.	.	.	.	.	.	C	15.07	2.724932	0.48833	.	.	ENSG00000121898	ENST00000241305;ENST00000540123;ENST00000418782	T	0.21734	1.99	4.69	3.79	0.43588	Peptidase M14, carboxypeptidase A (3);	0.000000	0.85682	D	0.000000	T	0.52108	0.1714	M	0.90082	3.085	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.62181	-0.6908	10	0.66056	D	0.02	-8.964	12.881	0.58017	0.0:0.9217:0.0:0.0783	.	449	Q8N436	CPXM2_HUMAN	E	449;282;449	ENSP00000241305:G449E	ENSP00000241305:G449E	G	-	2	0	CPXM2	125516612	1.000000	0.71417	0.058000	0.19502	0.107000	0.19398	7.624000	0.83124	1.194000	0.43101	-0.142000	0.14014	GGA		0.542	CPXM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050853.1	NM_198148		16	22	0	0	0	1	0	16	22					T	125526622	C	T	125526622	3	4	435	1	0	0	0	0	1	0	0	0	3838	855	30	3	944	3	CPXM2	10	125526622	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	100202	125526622	10008125	4901	25826											
CPXM2	119587	broad.mit.edu	37	chr10	125528099	125528099	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggggaggacgtgaatccgCgtctcctccaccaggtggac	8	6	15	12	3	1	1	0	1	1	0	4	5	3	4	4	5	0	0	4	5	1	0	rs370958461		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:125528099C>T	ENST00000241305.3	-	9	1396	c.1242G>A	c.(1240-1242)acG>acA	p.T414T	CPXM2_ENST00000368854.3_5'UTR	NM_198148.2	NP_937791.2	Q8N436	CPXM2_HUMAN	carboxypeptidase X (M14 family), member 2	414					cell adhesion (GO:0007155)	extracellular space (GO:0005615)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)	47		all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233)		COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237)		CGTGAATCCGCGTCTCCTCCA	0.632																																						ENST00000241305.3																			0				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)	47						c.(1240-1242)acG>acA		carboxypeptidase X (M14 family), member 2		C		1,4405	2.1+/-5.4	0,1,2202	98	83	88		1242	-0.5	0.9	10		88	0,8600		0,0,4300	no	coding-synonymous	CPXM2	NM_198148.2		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		414/757	125528099	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	119587				cell adhesion|proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding	g.chr10:125528099C>T	AY358565	CCDS7637.1	10q26	2012-02-10			ENSG00000121898	ENSG00000121898			26977	protein-coding gene	gene with protein product	"cytosolic carboxypeptidase"					12975309	Standard	NM_198148		Approved	UNQ676, CPX2	uc001lhk.1	Q8N436	OTTHUMG00000019206	ENST00000241305.3:c.1242G>A	10.37:g.125528099C>T						CPXM2_ENST00000368854.3_5'UTR	p.T414T	NM_198148.2	NP_937791.2	Q8N436	CPXM2_HUMAN		COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237)	9	1396	-		all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233)	414					B4E3Q2	Silent	SNP	ENST00000241305.3	37	c.1242G>A	CCDS7637.1																																																																																				0.632	CPXM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050853.1	NM_198148		18	30	0	0	0	1	0	18	30					T	125528099	C	T	125528099	2	4	435	1	0	0	0	0	0	0	0	1	3838	755	27	1		1	CPXM2	10	125528099	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	1477	125528099	10006648	4902	25827											
CPXM2	119587	broad.mit.edu	37	chr10	125528119	125528119	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtctcctccaccaggtggaCgatgcgcgcattccgggcca	6	7	12	16	5	1	0	0	0	1	0	4	2	3	1	5	3	1	1	5	3	0	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:125528119C>T	ENST00000241305.3	-	9	1376	c.1222G>A	c.(1222-1224)Gtc>Atc	p.V408I	CPXM2_ENST00000368854.3_5'UTR	NM_198148.2	NP_937791.2	Q8N436	CPXM2_HUMAN	carboxypeptidase X (M14 family), member 2	408					cell adhesion (GO:0007155)	extracellular space (GO:0005615)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)	47		all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233)		COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237)		ACCAGGTGGACGATGCGCGCA	0.652																																						ENST00000241305.3																			0				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)	47						c.(1222-1224)Gtc>Atc		carboxypeptidase X (M14 family), member 2							106	94	98					10																	125528119		2203	4300	6503	SO:0001583	missense	119587				cell adhesion|proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding	g.chr10:125528119C>T	AY358565	CCDS7637.1	10q26	2012-02-10			ENSG00000121898	ENSG00000121898			26977	protein-coding gene	gene with protein product	"cytosolic carboxypeptidase"					12975309	Standard	NM_198148		Approved	UNQ676, CPX2	uc001lhk.1	Q8N436	OTTHUMG00000019206	ENST00000241305.3:c.1222G>A	10.37:g.125528119C>T	ENSP00000241305:p.Val408Ile					CPXM2_ENST00000368854.3_5'UTR	p.V408I	NM_198148.2	NP_937791.2	Q8N436	CPXM2_HUMAN		COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237)	9	1376	-		all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233)	408					B4E3Q2	Missense_Mutation	SNP	ENST00000241305.3	37	c.1222G>A	CCDS7637.1	.	.	.	.	.	.	.	.	.	.	C	11.62	1.692973	0.30052	.	.	ENSG00000121898	ENST00000241305;ENST00000540123;ENST00000418782	T	0.11063	2.81	4.96	4.04	0.47022	Peptidase M14, carboxypeptidase A (1);	0.147777	0.44902	D	0.000418	T	0.08980	0.0222	L	0.41356	1.27	0.80722	D	1	B	0.18166	0.026	B	0.21708	0.036	T	0.13124	-1.0521	10	0.34782	T	0.22	-40.41	7.1798	0.25765	0.0:0.71:0.1454:0.1446	.	408	Q8N436	CPXM2_HUMAN	I	408;241;408	ENSP00000241305:V408I	ENSP00000241305:V408I	V	-	1	0	CPXM2	125518109	1.000000	0.71417	0.899000	0.35326	0.351000	0.29236	1.817000	0.39002	2.565000	0.86533	0.655000	0.94253	GTC		0.652	CPXM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050853.1	NM_198148		24	37	0	0	0	1	0	24	37					T	125528119	C	T	125528119	3	4	435	1	0	0	0	0	1	0	0	0	3838	536	19	1	1072	1	CPXM2	10	125528119	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	20	125528119	10006628	4903	25828											
CHST15	51363	broad.mit.edu	37	chr10	125801957	125801957	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagcccatctcttaggcggAcgattcctatgagaaccaag	11	8	10	12	2	1	1	0	1	1	1	3	4	2	2	3	2	2	1	3	2	4	3	rs375906303		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:125801957A>G	ENST00000346248.5	-	4	1535	c.893T>C	c.(892-894)gTc>gCc	p.V298A	CHST15_ENST00000421115.1_Missense_Mutation_p.V298A|CHST15_ENST00000435907.1_Missense_Mutation_p.V298A	NM_015892.4	NP_056976.2	Q7LFX5	CHSTF_HUMAN	carbohydrate (N-acetylgalactosamine 4-sulfate 6-O) sulfotransferase 15	298					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|hexose biosynthetic process (GO:0019319)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	3'-phosphoadenosine 5'-phosphosulfate binding (GO:0050656)|N-acetylgalactosamine 4-sulfate 6-O-sulfotransferase activity (GO:0050659)			endometrium(4)|kidney(1)|large_intestine(11)|lung(6)|ovary(3)|stomach(1)	26						TCTTAGGCGGACGATTCCTAT	0.547																																						ENST00000346248.5																			0				endometrium(4)|kidney(1)|large_intestine(11)|lung(6)|ovary(3)|stomach(1)	26						c.(892-894)gTc>gCc		carbohydrate (N-acetylgalactosamine 4-sulfate 6-O) sulfotransferase 15		A	ALA/VAL,ALA/VAL	0,4406		0,0,2203	77	68	71		893,893	5.7	1	10		71	1,8599		0,1,4299	no	missense,missense	CHST15	NM_014863.2,NM_015892.3	64,64	0,1,6502	GG,GA,AA		0.0116,0.0,0.0077	benign,benign	298/507,298/562	125801957	1,13005	2203	4300	6503	SO:0001583	missense	51363				hexose biosynthetic process	Golgi membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate binding|N-acetylgalactosamine 4-sulfate 6-O-sulfotransferase activity	g.chr10:125801957A>G	AB011170	CCDS7638.1	10q26	2009-07-09			ENSG00000182022	ENSG00000182022	2.8.2.33	"Sulfotransferases, membrane-bound"	18137	protein-coding gene	gene with protein product	"B cell RAG associated protein", "N-acetylgalactosamine 4-sulfate 6-O-sulfotransferase"	608277				9628581, 9754571, 11572857	Standard	NM_014863		Approved	GALNAC4S-6ST, BRAG, KIAA0598	uc001lhm.4	Q7LFX5	OTTHUMG00000019208	ENST00000346248.5:c.893T>C	10.37:g.125801957A>G	ENSP00000333947:p.Val298Ala					CHST15_ENST00000421115.1_Missense_Mutation_p.V298A|CHST15_ENST00000435907.1_Missense_Mutation_p.V298A	p.V298A	NM_001270764.1|NM_015892.3	NP_001257693.1|NP_056976.2	Q7LFX5	CHSTF_HUMAN			4	1535	-			298					O60338|O60474|Q86VM4	Missense_Mutation	SNP	ENST00000346248.5	37	c.893T>C	CCDS7638.1	.	.	.	.	.	.	.	.	.	.	A	17.80	3.478994	0.63849	0.0	1.16E-4	ENSG00000182022	ENST00000346248;ENST00000435907;ENST00000546346;ENST00000421115	.	.	.	5.72	5.72	0.89469	Sulfotransferase domain (1);	0.055138	0.64402	D	0.000002	T	0.37320	0.0999	N	0.17082	0.46	0.42940	D	0.994344	P;B	0.36837	0.571;0.151	B;B	0.33392	0.163;0.076	T	0.30060	-0.9991	9	0.36615	T	0.2	-50.6298	16.0205	0.80486	1.0:0.0:0.0:0.0	.	298;298	Q7LFX5-2;Q7LFX5	.;CHSTF_HUMAN	A	298	.	ENSP00000333947:V298A	V	-	2	0	CHST15	125791947	1.000000	0.71417	0.993000	0.49108	0.704000	0.40688	6.766000	0.74970	2.194000	0.70268	0.533000	0.62120	GTC		0.547	CHST15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050856.1	NM_015892		17	13	0	0	0	1	0	17	13					G	125801957	A	G	125801957	3	3	435	1	0	0	0	0	1	0	0	0	3403	275	10	4	812	4	CHST15	10	125801957	Missense_Mutation	SNP	A	TCGA-XK-AAIW-01A-11D-A41K-08	273838	125801957	9732790	4904	25829											
LHPP	64077	broad.mit.edu	37	chr10	126177053	126177053	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	actgtgtggtaattgcagacGcaggagaaagcttttcttat	11	13	11	6	1	1	2	0	0	1	2	1	3	1	2	0	2	2	4	0	2	3	5	rs200710743		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:126177053G>A	ENST00000368842.5	+	3	404	c.376G>A	c.(376-378)Gca>Aca	p.A126T	LHPP_ENST00000392757.4_Missense_Mutation_p.A126T|LHPP_ENST00000368839.1_Missense_Mutation_p.A126T	NM_022126.3	NP_071409.3	Q9H008	LHPP_HUMAN	phospholysine phosphohistidine inorganic pyrophosphate phosphatase	126					phosphate-containing compound metabolic process (GO:0006796)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	inorganic diphosphatase activity (GO:0004427)|magnesium ion binding (GO:0000287)|phosphohistidine phosphatase activity (GO:0008969)|protein homodimerization activity (GO:0042803)			large_intestine(2)|lung(2)	4		all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233)		COAD - Colon adenocarcinoma(40;0.163)|Colorectal(40;0.187)		AATTGCAGACGCAGGAGAAAG	0.478																																					GBM(165;1980 2715 15999 18454)	ENST00000368842.5																			0				large_intestine(2)|lung(2)	4						c.(376-378)Gca>Aca		phospholysine phosphohistidine inorganic pyrophosphate phosphatase		G	THR/ALA,THR/ALA	0,4406		0,0,2203	139	136	137		376,376	4.1	0.1	10		137	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	LHPP	NM_001167880.1,NM_022126.3	58,58	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging	126/211,126/271	126177053	1,13005	2203	4300	6503	SO:0001583	missense	64077				protein dephosphorylation	cytosol|nucleus	inorganic diphosphatase activity|magnesium ion binding|phosphohistidine phosphatase activity|protein homodimerization activity	g.chr10:126177053G>A	AB049629	CCDS7640.1, CCDS53587.1	10q26.2	2010-02-17			ENSG00000107902	ENSG00000107902	3.6.1.1		30042	protein-coding gene	gene with protein product						12801912, 16430861	Standard	NM_022126		Approved	HDHD2B	uc001lhs.2	Q9H008	OTTHUMG00000019214	ENST00000368842.5:c.376G>A	10.37:g.126177053G>A	ENSP00000357835:p.Ala126Thr					LHPP_ENST00000368839.1_Missense_Mutation_p.A126T|LHPP_ENST00000392757.4_Missense_Mutation_p.A126T	p.A126T	NM_022126.3	NP_071409.3	Q9H008	LHPP_HUMAN		COAD - Colon adenocarcinoma(40;0.163)|Colorectal(40;0.187)	3	404	+		all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233)	126					B3KP20|Q2TBE9|Q5VUV9|Q5VUW0	Missense_Mutation	SNP	ENST00000368842.5	37	c.376G>A	CCDS7640.1	.	.	.	.	.	.	.	.	.	.	G	17.00	3.276690	0.59758	0.0	1.16E-4	ENSG00000107902	ENST00000392757;ENST00000368842;ENST00000368839	T;T;T	0.23147	1.92;1.92;1.92	5.04	4.08	0.47627	Haloacid dehalogenase-like hydrolase (1);HAD-like domain (1);Nitrophenylphosphatase-like  domain (1);	0.000000	0.85682	D	0.000000	T	0.58935	0.2157	M	0.93106	3.38	0.58432	D	0.999997	D;D;D	0.89917	1.0;1.0;0.995	D;D;P	0.80764	0.987;0.994;0.725	T	0.67225	-0.5724	10	0.42905	T	0.14	-13.1733	15.4705	0.75437	0.0:0.0:0.8615:0.1385	.	126;126;126	Q5T1Z0;Q9H008-2;Q9H008	.;.;LHPP_HUMAN	T	126	ENSP00000376512:A126T;ENSP00000357835:A126T;ENSP00000357832:A126T	ENSP00000357832:A126T	A	+	1	0	LHPP	126167043	1.000000	0.71417	0.148000	0.22405	0.033000	0.12548	7.335000	0.79234	2.512000	0.84698	0.655000	0.94253	GCA		0.478	LHPP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050870.1	NM_022126		4	84	0	0	0	1	0	4	84					A	126177053	G	A	126177053	3	1	435	1	0	0	0	0	1	0	0	0	8769	1087	38	1	386	1	LHPP	10	126177053	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	375096	126177053	9357694	4905	25830											
METTL10	399818	broad.mit.edu	37	chr10	126463302	126463302	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tacttccagaaagctgaattGcagaaggagagtaatcaatt	16	10	9	6	0	1	4	1	1	0	3	2	5	2	4	1	1	3	3	1	1	6	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:126463302G>A	ENST00000368836.2	-	4	377	c.341C>T	c.(340-342)gCa>gTa	p.A114V	RP11-12J10.3_ENST00000494792.1_Nonsense_Mutation_p.Q79*	NM_212554.2	NP_997719.2	Q5JPI9	MET10_HUMAN	methyltransferase like 10	114							methyltransferase activity (GO:0008168)			endometrium(1)|large_intestine(2)|lung(1)|urinary_tract(1)	5		all_lung(145;0.0186)|Lung NSC(174;0.0295)|all_neural(114;0.116)|Colorectal(57;0.172)		Colorectal(40;0.101)|COAD - Colon adenocarcinoma(40;0.111)		AAGCTGAATTGCAGAAGGAGA	0.229																																						ENST00000494792.1																			0											c.(235-237)Caa>Taa									19	22	21					10																	126463302		2060	4108	6168	SO:0001583	missense	0							g.chr10:126463302G>A		CCDS31307.1	10q26.13	2010-01-15			ENSG00000203791	ENSG00000203791			33787	protein-coding gene	gene with protein product			"chromosome 10 open reading frame 138"	C10orf138			Standard	NM_212554		Approved	Em:AC068896.3	uc001lhy.1	Q5JPI9	OTTHUMG00000019217	ENST00000368836.2:c.341C>T	10.37:g.126463302G>A	ENSP00000357829:p.Ala114Val					METTL10_ENST00000368836.2_Missense_Mutation_p.A114V	p.Q79*							4	234	-								A8MPY7	Nonsense_Mutation	SNP	ENST00000368836.2	37	c.235C>T	CCDS31307.1	.	.	.	.	.	.	.	.	.	.	G	33	5.206236	0.95033	.	.	ENSG00000203791	ENST00000368836;ENST00000358960	T	0.71103	-0.54	5.65	5.65	0.86999	.	0.058662	0.64402	D	0.000002	D	0.83977	0.5371	M	0.66439	2.03	0.46298	D	0.998977	D;D;D	0.76494	0.998;0.999;0.996	D;D;D	0.83275	0.953;0.996;0.96	D	0.84261	0.0483	9	0.87932	D	0	-17.5908	19.9142	0.97043	0.0:0.0:1.0:0.0	.	36;115;114	E7EP98;B5MDU2;Q5JPI9	.;.;MTL10_HUMAN	V	114	ENSP00000357829:A114V	ENSP00000351845:A114V	A	-	2	0	METTL10	126453292	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.459000	0.90367	2.941000	0.99782	0.655000	0.94253	GCA		0.229	METTL10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050884.1	NM_212554		20	24	0	0	0	1	0	20	24					A	126463302	G	A	126463302	3	1	435	1	0	0	0	0	1	0	0	0	9494	1319	46	3	550	3	METTL10	10	126463302	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	286249	126463302	9071445	4906	25831											
ADAM12	8038	broad.mit.edu	37	chr10	127730740	127730740	+	Intron	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcagtagacgcatgctcctgCgatcccacgggctcctggcc	6	7	12	16	3	0	1	0	0	0	1	3	2	3	1	4	2	2	5	4	2	1	1	rs374599336		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:127730740C>T	ENST00000368679.4	-	18	2423				ADAM12_ENST00000368676.4_Silent_p.S726S	NM_003474.4	NP_003465.3	O43184	ADA12_HUMAN	ADAM metallopeptidase domain 12						cell adhesion (GO:0007155)|epidermal growth factor receptor signaling pathway (GO:0007173)|myoblast fusion (GO:0007520)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|SH3 domain binding (GO:0017124)|zinc ion binding (GO:0008270)			biliary_tract(1)|breast(7)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69		all_epithelial(44;7.06e-05)|all_lung(145;0.00563)|Lung NSC(174;0.00834)|Colorectal(57;0.102)|all_neural(114;0.107)|Breast(234;0.22)		COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.216)		CATGCTCCTGCGATCCCACGG	0.602																																						ENST00000368676.4																			0				biliary_tract(1)|breast(7)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						c.(2176-2178)tcG>tcA		ADAM metallopeptidase domain 12		C	,	0,4406		0,0,2203	98	69	79		,2178	-3.4	0	10		79	1,8599	1.2+/-3.3	0,1,4299	no	intron,coding-synonymous	ADAM12	NM_003474.4,NM_021641.3	,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,	,726/739	127730740	1,13005	2203	4300	6503	SO:0001627	intron_variant	8038				cell adhesion|epidermal growth factor receptor signaling pathway|myoblast fusion|proteolysis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|protein binding|SH3 domain binding|zinc ion binding	g.chr10:127730740C>T	AF023476	CCDS7653.1, CCDS7654.1	10q26	2008-07-29	2008-07-29		ENSG00000148848	ENSG00000148848		"ADAM metallopeptidase domain containing"	190	protein-coding gene	gene with protein product	"meltrin alpha"	602714	"a disintegrin and metalloproteinase domain 12 (meltrin alpha)"			9417060, 18342566	Standard	NM_003474		Approved	MCMPMltna, MLTN	uc001ljk.2	O43184	OTTHUMG00000019243	ENST00000368679.4:c.2113+868G>A	10.37:g.127730740C>T						ADAM12_ENST00000368679.4_Intron	p.S726S	NM_021641.3	NP_067673.2	O43184	ADA12_HUMAN		COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.216)	19	2487	-		all_epithelial(44;7.06e-05)|all_lung(145;0.00563)|Lung NSC(174;0.00834)|Colorectal(57;0.102)|all_neural(114;0.107)|Breast(234;0.22)	0					O60470|Q5JRP0|Q5JRP1|Q6P9E3|Q6UWB0	Silent	SNP	ENST00000368679.4	37	c.2178G>A	CCDS7653.1																																																																																				0.602	ADAM12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050961.1			9	18	0	0	0	1	0	9	18					T	127730740	C	T	127730740	1	4	435	0	1	0	0	0	0	0	0	0	236	755	27	1		1	ADAM12	10	127730740	Intron	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	1267438	127730740	7804007	4907	25832											
DOCK1	1793	broad.mit.edu	37	chr10	129160405	129160405	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	taattcccgagacggagctgCgcaaagccaccatccccatc	11	6	8	16	3	0	1	0	0	0	1	3	3	2	2	5	1	3	2	5	1	2	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:129160405C>T	ENST00000280333.6	+	33	3407	c.3298C>T	c.(3298-3300)Cgc>Tgc	p.R1100C		NM_001380.3	NP_001371.1	Q14185	DOCK1_HUMAN	dedicator of cytokinesis 1	1100					apoptotic process (GO:0006915)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|hematopoietic progenitor cell differentiation (GO:0002244)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|phagocytosis, engulfment (GO:0006911)|positive regulation of GTPase activity (GO:0043547)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)			NS(2)|breast(1)|central_nervous_system(7)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(10)|lung(15)|ovary(4)|prostate(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	72		all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14)		BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115)		GACGGAGCTGCGCAAAGCCAC	0.448																																						ENST00000280333.6																			0				NS(2)|breast(1)|central_nervous_system(7)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(10)|lung(15)|ovary(4)|prostate(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	72						c.(3298-3300)Cgc>Tgc		dedicator of cytokinesis 1							57	57	57					10																	129160405		2100	4252	6352	SO:0001583	missense	1793				apoptosis|axon guidance|blood coagulation|integrin-mediated signaling pathway|phagocytosis, engulfment|small GTPase mediated signal transduction	cytosol|membrane	GTP binding|GTPase activator activity|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding	g.chr10:129160405C>T	D50857	CCDS73222.1	10q26.13-q26.3	2009-10-28			ENSG00000150760	ENSG00000150760			2987	protein-coding gene	gene with protein product	"DOwnstream of CrK"	601403	"dedicator of cyto-kinesis 1"			8657152, 8661160	Standard	XM_006717681		Approved	DOCK180, ced5	uc001ljt.3	Q14185	OTTHUMG00000019249	ENST00000280333.6:c.3298C>T	10.37:g.129160405C>T	ENSP00000280333:p.Arg1100Cys						p.R1100C	NM_001380.3	NP_001371.1	Q14185	DOCK1_HUMAN		BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115)	33	3407	+		all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14)	1100					A9Z1Z5	Missense_Mutation	SNP	ENST00000280333.6	37	c.3298C>T		.	.	.	.	.	.	.	.	.	.	C	19.13	3.768224	0.69878	.	.	ENSG00000150760	ENST00000280333	T	0.74106	-0.81	5.15	5.15	0.70609	.	0.000000	0.85682	D	0.000000	D	0.88123	0.6352	M	0.90759	3.145	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.998;0.996;1.0	D	0.90062	0.4157	10	0.87932	D	0	.	14.2043	0.65725	0.1499:0.8501:0.0:0.0	.	1100;1166;1100	B2RUU3;A8MU08;Q14185	.;.;DOCK1_HUMAN	C	1100	ENSP00000280333:R1100C	ENSP00000280333:R1100C	R	+	1	0	DOCK1	129050395	0.996000	0.38824	0.986000	0.45419	0.915000	0.54546	2.348000	0.44045	2.660000	0.90430	0.650000	0.86243	CGC		0.448	DOCK1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000050979.2	NM_001380		17	23	0	0	0	1	0	17	23					T	129160405	C	T	129160405	3	4	435	1	0	0	0	0	1	0	0	0	4684	768	27	1	3428	1	DOCK1	10	129160405	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	1429665	129160405	6374342	4908	25833											
DOCK1	1793	broad.mit.edu	37	chr10	129202690	129202690	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caagggttccccacattcctGcgggtaaagtttggttctgc	7	12	11	11	1	1	0	0	0	1	0	3	0	3	0	3	3	2	4	3	3	3	5	rs373920654		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:129202690G>A	ENST00000280333.6	+	40	4165	c.4056G>A	c.(4054-4056)ctG>ctA	p.L1352L		NM_001380.3	NP_001371.1	Q14185	DOCK1_HUMAN	dedicator of cytokinesis 1	1352	DHR-2.				apoptotic process (GO:0006915)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|hematopoietic progenitor cell differentiation (GO:0002244)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|phagocytosis, engulfment (GO:0006911)|positive regulation of GTPase activity (GO:0043547)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)			NS(2)|breast(1)|central_nervous_system(7)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(10)|lung(15)|ovary(4)|prostate(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	72		all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14)		BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115)		CCACATTCCTGCGGGTAAAGT	0.498																																						ENST00000280333.6																			0				NS(2)|breast(1)|central_nervous_system(7)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(10)|lung(15)|ovary(4)|prostate(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	72						c.(4054-4056)ctG>ctA		dedicator of cytokinesis 1		G		2,3786		0,2,1892	51	52	52		4011	-8	0.9	10		52	0,8270		0,0,4135	no	coding-synonymous	DOCK1	NM_001380.3		0,2,6027	AA,AG,GG		0.0,0.0528,0.0166		1337/1851	129202690	2,12056	1894	4135	6029	SO:0001819	synonymous_variant	1793				apoptosis|axon guidance|blood coagulation|integrin-mediated signaling pathway|phagocytosis, engulfment|small GTPase mediated signal transduction	cytosol|membrane	GTP binding|GTPase activator activity|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding	g.chr10:129202690G>A	D50857	CCDS73222.1	10q26.13-q26.3	2009-10-28			ENSG00000150760	ENSG00000150760			2987	protein-coding gene	gene with protein product	"DOwnstream of CrK"	601403	"dedicator of cyto-kinesis 1"			8657152, 8661160	Standard	XM_006717681		Approved	DOCK180, ced5	uc001ljt.3	Q14185	OTTHUMG00000019249	ENST00000280333.6:c.4056G>A	10.37:g.129202690G>A							p.L1352L	NM_001380.3	NP_001371.1	Q14185	DOCK1_HUMAN		BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115)	40	4165	+		all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14)	1352			DHR-2.		A9Z1Z5	Silent	SNP	ENST00000280333.6	37	c.4056G>A																																																																																					0.498	DOCK1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000050979.2	NM_001380		5	8	0	0	0	1	0	5	8					A	129202690	G	A	129202690	2	1	435	1	0	0	0	0	0	0	0	1	4684	1306	46	3		3	DOCK1	10	129202690	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	42285	129202690	6332057	4909	25834											
DOCK1	1793	broad.mit.edu	37	chr10	129231687	129231687	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	accccttccagaccaggctcCgacgggtgagtcaagctcac	9	6	10	16	2	2	2	2	1	0	1	4	3	4	2	5	2	1	2	5	2	1	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:129231687C>T	ENST00000280333.6	+	48	5101	c.4992C>T	c.(4990-4992)tcC>tcT	p.S1664S		NM_001380.3	NP_001371.1	Q14185	DOCK1_HUMAN	dedicator of cytokinesis 1	1664					apoptotic process (GO:0006915)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|hematopoietic progenitor cell differentiation (GO:0002244)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|phagocytosis, engulfment (GO:0006911)|positive regulation of GTPase activity (GO:0043547)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)			NS(2)|breast(1)|central_nervous_system(7)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(10)|lung(15)|ovary(4)|prostate(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	72		all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14)		BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115)		GACCAGGCTCCGACGGGTGAG	0.597																																						ENST00000280333.6																			0				NS(2)|breast(1)|central_nervous_system(7)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(10)|lung(15)|ovary(4)|prostate(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	72						c.(4990-4992)tcC>tcT		dedicator of cytokinesis 1							58	62	60					10																	129231687		1996	4161	6157	SO:0001819	synonymous_variant	1793				apoptosis|axon guidance|blood coagulation|integrin-mediated signaling pathway|phagocytosis, engulfment|small GTPase mediated signal transduction	cytosol|membrane	GTP binding|GTPase activator activity|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding	g.chr10:129231687C>T	D50857	CCDS73222.1	10q26.13-q26.3	2009-10-28			ENSG00000150760	ENSG00000150760			2987	protein-coding gene	gene with protein product	"DOwnstream of CrK"	601403	"dedicator of cyto-kinesis 1"			8657152, 8661160	Standard	XM_006717681		Approved	DOCK180, ced5	uc001ljt.3	Q14185	OTTHUMG00000019249	ENST00000280333.6:c.4992C>T	10.37:g.129231687C>T							p.S1664S	NM_001380.3	NP_001371.1	Q14185	DOCK1_HUMAN		BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115)	48	5101	+		all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14)	1664					A9Z1Z5	Silent	SNP	ENST00000280333.6	37	c.4992C>T																																																																																					0.597	DOCK1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000050979.2	NM_001380		11	25	0	0	0	1	0	11	25					T	129231687	C	T	129231687	2	4	435	1	0	0	0	0	0	0	0	1	4684	639	23	2		2	DOCK1	10	129231687	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	28997	129231687	6303060	4910	25835											
PTPRE	5791	broad.mit.edu	37	chr10	129864363	129864363	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agtgccatcagtactggcccGaccaaggctgctggacctat	9	8	11	13	1	1	0	1	0	0	0	1	2	1	1	4	3	3	3	4	3	3	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:129864363G>A	ENST00000254667.3	+	11	1027	c.748G>A	c.(748-750)Gac>Aac	p.D250N	PTPRE_ENST00000306042.5_Missense_Mutation_p.D192N|PTPRE_ENST00000419012.2_Missense_Mutation_p.D250N|PTPRE_ENST00000430713.2_3'UTR	NM_006504.4	NP_006495.1	P23469	PTPRE_HUMAN	protein tyrosine phosphatase, receptor type, E	250	Tyrosine-protein phosphatase 1. {ECO:0000255|PROSITE-ProRule:PRU00160}.				negative regulation of insulin receptor signaling pathway (GO:0046627)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of mast cell activation (GO:0033003)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	22		all_epithelial(44;1.66e-05)|all_lung(145;0.00456)|Lung NSC(174;0.0066)|all_neural(114;0.0936)|Colorectal(57;0.141)|Breast(234;0.166)|Melanoma(40;0.203)			Alendronate(DB00630)	GTACTGGCCCGACCAAGGCTG	0.517																																					Colon(52;977 1184 20575 41685)	ENST00000254667.3																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	22						c.(748-750)Gac>Aac		protein tyrosine phosphatase, receptor type, E							207	167	181					10																	129864363		2203	4300	6503	SO:0001583	missense	5791				negative regulation of insulin receptor signaling pathway|protein phosphorylation	cytoplasm|integral to membrane|intermediate filament cytoskeleton|nucleus|plasma membrane	transmembrane receptor protein tyrosine phosphatase activity	g.chr10:129864363G>A	AF406557	CCDS7657.1, CCDS7658.1	10q26	2011-06-09			ENSG00000132334	ENSG00000132334		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"	9669	protein-coding gene	gene with protein product		600926				8595895	Standard	NM_130435		Approved	PTPE	uc001lkb.3	P23469	OTTHUMG00000019254	ENST00000254667.3:c.748G>A	10.37:g.129864363G>A	ENSP00000254667:p.Asp250Asn					PTPRE_ENST00000306042.5_Missense_Mutation_p.D192N|PTPRE_ENST00000419012.2_Missense_Mutation_p.D250N|PTPRE_ENST00000430713.2_3'UTR	p.D250N	NM_006504.4	NP_006495.1	P23469	PTPRE_HUMAN			11	1027	+		all_epithelial(44;1.66e-05)|all_lung(145;0.00456)|Lung NSC(174;0.0066)|all_neural(114;0.0936)|Colorectal(57;0.141)|Breast(234;0.166)|Melanoma(40;0.203)	250			Tyrosine-protein phosphatase 1.		Q13345|Q5VWH3|Q5VWH4|Q96KQ6	Missense_Mutation	SNP	ENST00000254667.3	37	c.748G>A	CCDS7657.1	.	.	.	.	.	.	.	.	.	.	G	27.6	4.846747	0.91277	.	.	ENSG00000132334	ENST00000254667;ENST00000439034;ENST00000419012;ENST00000306042	D;D;D	0.83335	-1.71;-1.71;-1.71	5.18	5.18	0.71444	Protein-tyrosine phosphatase, receptor/non-receptor type (3);	0.122744	0.53938	D	0.000058	T	0.78329	0.4266	L	0.41710	1.295	0.80722	D	1	B;B;B;B	0.33583	0.418;0.096;0.292;0.096	B;B;B;B	0.33750	0.169;0.092;0.067;0.092	T	0.76594	-0.2902	10	0.33940	T	0.23	.	17.7089	0.88316	0.0:0.0:1.0:0.0	.	228;250;192;250	F5H0X4;Q5VWH4;P23469-2;P23469	.;.;.;PTPRE_HUMAN	N	250;228;250;192	ENSP00000254667:D250N;ENSP00000402337:D250N;ENSP00000303350:D192N	ENSP00000254667:D250N	D	+	1	0	PTPRE	129754353	1.000000	0.71417	0.967000	0.41034	0.985000	0.73830	9.556000	0.98127	2.400000	0.81607	0.655000	0.94253	GAC		0.517	PTPRE-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050990.1			49	55	0	0	0	1	0	49	55					A	129864363	G	A	129864363	3	1	435	1	0	0	0	0	1	0	0	0	12800	1058	37	2	821	2	PTPRE	10	129864363	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	632676	129864363	5670384	4911	25836											
PTPRE	5791	broad.mit.edu	37	chr10	129874955	129874955	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gaatgataccctttcagaagCcatcagtatacgagactttc	13	11	7	10	1	2	3	2	1	0	2	3	5	2	3	2	0	3	1	2	0	5	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:129874955C>T	ENST00000254667.3	+	18	1967	c.1688C>T	c.(1687-1689)gCc>gTc	p.A563V	PTPRE_ENST00000306042.5_Missense_Mutation_p.A505V|PTPRE_ENST00000419012.2_Missense_Mutation_p.A563V	NM_006504.4	NP_006495.1	P23469	PTPRE_HUMAN	protein tyrosine phosphatase, receptor type, E	563	Tyrosine-protein phosphatase 2. {ECO:0000255|PROSITE-ProRule:PRU00160}.				negative regulation of insulin receptor signaling pathway (GO:0046627)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of mast cell activation (GO:0033003)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	22		all_epithelial(44;1.66e-05)|all_lung(145;0.00456)|Lung NSC(174;0.0066)|all_neural(114;0.0936)|Colorectal(57;0.141)|Breast(234;0.166)|Melanoma(40;0.203)			Alendronate(DB00630)	CTTTCAGAAGCCATCAGTATA	0.428																																					Colon(52;977 1184 20575 41685)	ENST00000254667.3																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	22						c.(1687-1689)gCc>gTc		protein tyrosine phosphatase, receptor type, E							181	180	180					10																	129874955		2203	4300	6503	SO:0001583	missense	5791				negative regulation of insulin receptor signaling pathway|protein phosphorylation	cytoplasm|integral to membrane|intermediate filament cytoskeleton|nucleus|plasma membrane	transmembrane receptor protein tyrosine phosphatase activity	g.chr10:129874955C>T	AF406557	CCDS7657.1, CCDS7658.1	10q26	2011-06-09			ENSG00000132334	ENSG00000132334		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"	9669	protein-coding gene	gene with protein product		600926				8595895	Standard	NM_130435		Approved	PTPE	uc001lkb.3	P23469	OTTHUMG00000019254	ENST00000254667.3:c.1688C>T	10.37:g.129874955C>T	ENSP00000254667:p.Ala563Val					PTPRE_ENST00000306042.5_Missense_Mutation_p.A505V|PTPRE_ENST00000419012.2_Missense_Mutation_p.A563V	p.A563V	NM_006504.4	NP_006495.1	P23469	PTPRE_HUMAN			18	1967	+		all_epithelial(44;1.66e-05)|all_lung(145;0.00456)|Lung NSC(174;0.0066)|all_neural(114;0.0936)|Colorectal(57;0.141)|Breast(234;0.166)|Melanoma(40;0.203)	563			Tyrosine-protein phosphatase 2.		Q13345|Q5VWH3|Q5VWH4|Q96KQ6	Missense_Mutation	SNP	ENST00000254667.3	37	c.1688C>T	CCDS7657.1	.	.	.	.	.	.	.	.	.	.	C	19.49	3.838203	0.71373	.	.	ENSG00000132334	ENST00000254667;ENST00000439034;ENST00000419012;ENST00000306042	T;T;T	0.11604	2.76;2.76;2.76	5.06	3.1	0.35709	Protein-tyrosine phosphatase, receptor/non-receptor type (3);	0.073153	0.64402	D	0.000019	T	0.10121	0.0248	L	0.33668	1.02	0.80722	D	1	P;B;B;B	0.38078	0.617;0.372;0.125;0.372	B;B;B;B	0.36030	0.085;0.216;0.098;0.216	T	0.06445	-1.0826	10	0.72032	D	0.01	.	14.669	0.68929	0.0:0.6993:0.3007:0.0	.	541;563;505;563	F5H0X4;Q5VWH4;P23469-2;P23469	.;.;.;PTPRE_HUMAN	V	563;541;563;505	ENSP00000254667:A563V;ENSP00000402337:A563V;ENSP00000303350:A505V	ENSP00000254667:A563V	A	+	2	0	PTPRE	129764945	1.000000	0.71417	0.998000	0.56505	0.993000	0.82548	3.553000	0.53713	0.446000	0.26666	0.655000	0.94253	GCC		0.428	PTPRE-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050990.1			42	77	0	0	0	1	0	42	77					T	129874955	C	T	129874955	3	4	435	1	0	0	0	0	1	0	0	0	12800	739	26	3	1789	3	PTPRE	10	129874955	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	10592	129874955	5659792	4912	25837											
PTPRE	5791	broad.mit.edu	37	chr10	129877927	129877927	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttcaagctgtgaagagtttaCgacttcagagaccacatatg	13	11	9	8	1	2	3	2	1	0	2	2	5	2	3	1	0	2	2	1	0	4	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:129877927C>T	ENST00000254667.3	+	20	2275	c.1996C>T	c.(1996-1998)Cga>Tga	p.R666*	PTPRE_ENST00000306042.5_Nonsense_Mutation_p.R608*|PTPRE_ENST00000419012.2_Nonsense_Mutation_p.R666*	NM_006504.4	NP_006495.1	P23469	PTPRE_HUMAN	protein tyrosine phosphatase, receptor type, E	666	Tyrosine-protein phosphatase 2. {ECO:0000255|PROSITE-ProRule:PRU00160}.				negative regulation of insulin receptor signaling pathway (GO:0046627)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of mast cell activation (GO:0033003)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	22		all_epithelial(44;1.66e-05)|all_lung(145;0.00456)|Lung NSC(174;0.0066)|all_neural(114;0.0936)|Colorectal(57;0.141)|Breast(234;0.166)|Melanoma(40;0.203)			Alendronate(DB00630)	GAAGAGTTTACGACTTCAGAG	0.418																																					Colon(52;977 1184 20575 41685)	ENST00000254667.3																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	22						c.(1996-1998)Cga>Tga		protein tyrosine phosphatase, receptor type, E							98	96	97					10																	129877927		2203	4300	6503	SO:0001587	stop_gained	5791				negative regulation of insulin receptor signaling pathway|protein phosphorylation	cytoplasm|integral to membrane|intermediate filament cytoskeleton|nucleus|plasma membrane	transmembrane receptor protein tyrosine phosphatase activity	g.chr10:129877927C>T	AF406557	CCDS7657.1, CCDS7658.1	10q26	2011-06-09			ENSG00000132334	ENSG00000132334		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"	9669	protein-coding gene	gene with protein product		600926				8595895	Standard	NM_130435		Approved	PTPE	uc001lkb.3	P23469	OTTHUMG00000019254	ENST00000254667.3:c.1996C>T	10.37:g.129877927C>T	ENSP00000254667:p.Arg666*					PTPRE_ENST00000306042.5_Nonsense_Mutation_p.R608*|PTPRE_ENST00000419012.2_Nonsense_Mutation_p.R666*	p.R666*	NM_006504.4	NP_006495.1	P23469	PTPRE_HUMAN			20	2275	+		all_epithelial(44;1.66e-05)|all_lung(145;0.00456)|Lung NSC(174;0.0066)|all_neural(114;0.0936)|Colorectal(57;0.141)|Breast(234;0.166)|Melanoma(40;0.203)	666			Tyrosine-protein phosphatase 2.		Q13345|Q5VWH3|Q5VWH4|Q96KQ6	Nonsense_Mutation	SNP	ENST00000254667.3	37	c.1996C>T	CCDS7657.1	.	.	.	.	.	.	.	.	.	.	C	39	7.538222	0.98345	.	.	ENSG00000132334	ENST00000254667;ENST00000419012;ENST00000306042	.	.	.	4.61	1.46	0.22682	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.0003	0.64429	0.5512:0.4488:0.0:0.0	.	.	.	.	X	666;666;608	.	ENSP00000254667:R666X	R	+	1	2	PTPRE	129767917	1.000000	0.71417	0.477000	0.27303	0.998000	0.95712	2.009000	0.40903	0.192000	0.20272	0.650000	0.86243	CGA		0.418	PTPRE-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050990.1			23	43	0	0	0	1	0	23	43					T	129877927	C	T	129877927	4	4	435	1	0	0	0	0	0	1	0	0	12800	528	19	1	2105	1	PTPRE	10	129877927	Nonsense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	2972	129877927	5656820	4913	25838											
MKI67	4288	broad.mit.edu	37	chr10	129899719	129899719	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ctgccctccgctctcctctgCcaccttaggctgggagctct	3	11	9	18	1	3	0	0	0	3	0	5	1	4	1	5	2	3	3	5	2	1	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:129899719C>T	ENST00000368654.3	-	14	9883	c.9508G>A	c.(9508-9510)Gca>Aca	p.A3170T	MKI67_ENST00000368653.3_Missense_Mutation_p.A2810T	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	3170					cell proliferation (GO:0008283)|cellular response to heat (GO:0034605)|DNA metabolic process (GO:0006259)|hyaluronan metabolic process (GO:0030212)|meiotic nuclear division (GO:0007126)|organ regeneration (GO:0031100)|response to organic cyclic compound (GO:0014070)	chromosome, centromeric region (GO:0000775)|condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				CTCTCCTCTGCCACCTTAGGC	0.507																																						ENST00000368654.3																			0				NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159						c.(9508-9510)Gca>Aca		marker of proliferation Ki-67							177	160	165					10																	129899719		2203	4300	6503	SO:0001583	missense	4288				cell proliferation	nucleolus	ATP binding|protein C-terminus binding	g.chr10:129899719C>T	X65550	CCDS7659.1, CCDS53588.1	10q26.2	2014-06-12	2013-10-10		ENSG00000148773	ENSG00000148773			7107	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 105"	176741	"antigen identified by monoclonal antibody Ki-67"			2571566, 16206250	Standard	NM_002417		Approved	MIB-, PPP1R105	uc001lke.3	P46013	OTTHUMG00000019255	ENST00000368654.3:c.9508G>A	10.37:g.129899719C>T	ENSP00000357643:p.Ala3170Thr					MKI67_ENST00000368653.3_Missense_Mutation_p.A2810T	p.A3170T	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN			14	9883	-		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)	3170					Q5VWH2	Missense_Mutation	SNP	ENST00000368654.3	37	c.9508G>A	CCDS7659.1	.	.	.	.	.	.	.	.	.	.	C	16.07	3.019760	0.54576	.	.	ENSG00000148773	ENST00000368654;ENST00000368653;ENST00000537609	T;T	0.04862	3.57;3.54	2.99	-0.0309	0.13912	.	1.062800	0.07398	N	0.890217	T	0.12390	0.0301	L	0.32530	0.975	0.09310	N	1	P;D	0.89917	0.713;1.0	B;D	0.79108	0.33;0.992	T	0.37641	-0.9697	10	0.30078	T	0.28	.	5.6761	0.17749	0.0:0.6096:0.0:0.3904	.	2810;3170	P46013-2;P46013	.;KI67_HUMAN	T	3170;2810;3169	ENSP00000357643:A3170T;ENSP00000357642:A2810T	ENSP00000357642:A2810T	A	-	1	0	MKI67	129789709	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	0.471000	0.22100	0.001000	0.14605	0.563000	0.77884	GCA		0.507	MKI67-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050999.1	NM_002417		52	65	0	0	0	1	0	52	65					T	129899719	C	T	129899719	3	4	435	1	0	0	0	0	1	0	0	0	9598	739	26	3	270	3	MKI67	10	129899719	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	21792	129899719	5635028	4914	25839											
MKI67	4288	broad.mit.edu	37	chr10	129901245	129901245	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggatatttttagaggtttTccactgtcaggtgtttgctt	6	19	10	6	0	1	1	1	0	0	1	2	2	2	2	1	3	1	3	1	3	2	8			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:129901245T>C	ENST00000368654.3	-	13	9234	c.8859A>G	c.(8857-8859)ggA>ggG	p.G2953G	MKI67_ENST00000368653.3_Silent_p.G2593G	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	2953					cell proliferation (GO:0008283)|cellular response to heat (GO:0034605)|DNA metabolic process (GO:0006259)|hyaluronan metabolic process (GO:0030212)|meiotic nuclear division (GO:0007126)|organ regeneration (GO:0031100)|response to organic cyclic compound (GO:0014070)	chromosome, centromeric region (GO:0000775)|condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				TTAGAGGTTTTCCACTGTCAG	0.483																																						ENST00000368654.3																			0				NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159						c.(8857-8859)ggA>ggG		marker of proliferation Ki-67							96	102	100					10																	129901245		2203	4300	6503	SO:0001819	synonymous_variant	4288				cell proliferation	nucleolus	ATP binding|protein C-terminus binding	g.chr10:129901245T>C	X65550	CCDS7659.1, CCDS53588.1	10q26.2	2014-06-12	2013-10-10		ENSG00000148773	ENSG00000148773			7107	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 105"	176741	"antigen identified by monoclonal antibody Ki-67"			2571566, 16206250	Standard	NM_002417		Approved	MIB-, PPP1R105	uc001lke.3	P46013	OTTHUMG00000019255	ENST00000368654.3:c.8859A>G	10.37:g.129901245T>C						MKI67_ENST00000368653.3_Silent_p.G2593G	p.G2953G	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN			13	9234	-		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)	2953					Q5VWH2	Silent	SNP	ENST00000368654.3	37	c.8859A>G	CCDS7659.1																																																																																				0.483	MKI67-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050999.1	NM_002417		6	144	0	0	0	1	0	6	144					C	129901245	T	C	129901245	2	2	435	1	0	0	0	0	0	0	0	1	9598	1770	62	4		4	MKI67	10	129901245	Silent	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	1526	129901245	5633502	4915	25840											
PPP2R2D	55844	broad.mit.edu	37	chr10	133769188	133769188	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tctgctcttgttttgaacagCgccatcatgaccgggtccta	7	13	9	12	2	3	2	1	2	2	0	4	2	4	2	3	1	3	2	3	1	2	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:133769188C>T	ENST00000422256.2	+	8	883	c.398C>T	c.(397-399)gCg>gTg	p.A133V	PPP2R2D_ENST00000470416.1_3'UTR			Q66LE6	2ABD_HUMAN	protein phosphatase 2, regulatory subunit B, delta	0					exit from mitosis (GO:0010458)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|regulation of catalytic activity (GO:0050790)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|protein phosphatase type 2A complex (GO:0000159)	protein phosphatase type 2A regulator activity (GO:0008601)			endometrium(3)|large_intestine(3)|liver(1)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	13		all_cancers(35;2.16e-12)|all_epithelial(44;2.77e-09)|Lung NSC(174;0.00237)|all_lung(145;0.00354)|Colorectal(31;0.0124)|Breast(234;0.023)|all_neural(114;0.0299)|Melanoma(40;0.123)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;7.86e-05)|Epithelial(32;8.82e-05)|all cancers(32;0.000106)|BRCA - Breast invasive adenocarcinoma(275;0.21)		TTTTGAACAGCGCCATCATGA	0.602																																						ENST00000422256.2																			0				endometrium(3)|large_intestine(3)|liver(1)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	13						c.e8-1		protein phosphatase 2, regulatory subunit B, delta							40	42	41					10																	133769188		2035	4206	6241	SO:0001630	splice_region_variant	55844				cell division|exit from mitosis|mitosis|signal transduction	cytoplasm|protein phosphatase type 2A complex	protein phosphatase type 2A regulator activity	g.chr10:133769188C>T	AF220046	CCDS73224.1	10q26.3	2013-01-10	2010-06-18		ENSG00000175470	ENSG00000175470		"Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits", "WD repeat domain containing"	23732	protein-coding gene	gene with protein product	"PP2A subunit B isoform delta"	613992	"protein phosphatase 2, regulatory subunit B, delta isoform"			10819331	Standard	XM_005277927		Approved	MDS026	uc001lks.3	Q66LE6	OTTHUMG00000019277	ENST00000422256.2:c.398-1C>T	10.37:g.133769188C>T						PPP2R2D_ENST00000470416.1_3'UTR	p.A133_splice			Q66LE6	2ABD_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;7.86e-05)|Epithelial(32;8.82e-05)|all cancers(32;0.000106)|BRCA - Breast invasive adenocarcinoma(275;0.21)	8	883	+		all_cancers(35;2.16e-12)|all_epithelial(44;2.77e-09)|Lung NSC(174;0.00237)|all_lung(145;0.00354)|Colorectal(31;0.0124)|Breast(234;0.023)|all_neural(114;0.0299)|Melanoma(40;0.123)|Glioma(114;0.203)	0					A8KAK0|Q5SQJ2|Q9P1Y7	Splice_Site	SNP	ENST00000422256.2	37	c.397_splice		.	.	.	.	.	.	.	.	.	.	c	12.71	2.021030	0.35606	.	.	ENSG00000175470	ENST00000422256	.	.	.	3.39	-6.78	0.01721	.	.	.	.	.	T	0.40196	0.1107	.	.	.	0.09310	N	0.999995	.	.	.	.	.	.	T	0.40194	-0.9576	4	.	.	.	.	15.2029	0.73153	0.0:0.6025:0.0:0.3975	.	.	.	.	V	133	.	.	A	+	2	0	PPP2R2D	133619178	0.714000	0.27936	0.010000	0.14722	0.005000	0.04900	-0.292000	0.08332	-1.566000	0.01673	-1.309000	0.01313	GCG		0.602	PPP2R2D-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_018461	Missense_Mutation	14	17	0	0	0	1	0	14	17					T	133769188	C	T	133769188	5	4	435	1	0	0	0	0	0	0	1	0	12387	782	27	1	1011	1	PPP2R2D	10	133769188	Splice_Site	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	3867943	133769188	1765559	4916	25841											
JAKMIP3	282973	broad.mit.edu	37	chr10	133930934	133930934	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagatctccgagctcaagggCgccaaaaggcaggtggagga	12	4	16	9	2	2	1	1	0	1	1	3	5	2	3	2	5	1	2	2	5	3	0	rs369892382		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:133930934C>T	ENST00000298622.4	+	2	627	c.489C>T	c.(487-489)ggC>ggT	p.G163G		NM_001105521.2	NP_001098991.1	Q5VZ66	JKIP3_HUMAN	Janus kinase and microtubule interacting protein 3	163						Golgi apparatus (GO:0005794)				breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	31		all_cancers(35;5.63e-09)|all_epithelial(44;9.25e-07)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|Colorectal(31;0.0721)|all_neural(114;0.0726)|Breast(234;0.0949)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;0.000104)|Epithelial(32;0.000142)|all cancers(32;0.000185)|BRCA - Breast invasive adenocarcinoma(275;0.224)		AGCTCAAGGGCGCCAAAAGGC	0.612													C|||	1	0.000199681	0	0	5008	,	,		16932	0		0	False		,,,				2504	0.001					ENST00000298622.4																			0				breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	31						c.(487-489)ggC>ggT		Janus kinase and microtubule interacting protein 3		C		0,4352		0,0,2176	66	79	74		489	-9	0.9	10		74	1,8519		0,1,4259	no	coding-synonymous	JAKMIP3	NM_001105521.2		0,1,6435	TT,TC,CC		0.0117,0.0,0.0078		163/845	133930934	1,12871	2176	4260	6436	SO:0001819	synonymous_variant	282973							g.chr10:133930934C>T	AL832756	CCDS44494.1	10q26.3	2009-04-23	2009-04-23	2008-01-28	ENSG00000188385	ENSG00000188385			23523	protein-coding gene	gene with protein product	"neuroendocrine long coiled-coil 2"	611198	"chromosome 10 open reading frame 39", "chromosome 10 open reading frame 14"	C10orf39, C10orf14		15277531, 17572408	Standard	NM_001105521		Approved	FLJ37857, NECC2, KIAA4091, bA140A10.5	uc001lkx.4	Q5VZ66	OTTHUMG00000150167	ENST00000298622.4:c.489C>T	10.37:g.133930934C>T							p.G163G	NM_001105521.2	NP_001098991.1				OV - Ovarian serous cystadenocarcinoma(35;0.000104)|Epithelial(32;0.000142)|all cancers(32;0.000185)|BRCA - Breast invasive adenocarcinoma(275;0.224)	2	627	+		all_cancers(35;5.63e-09)|all_epithelial(44;9.25e-07)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|Colorectal(31;0.0721)|all_neural(114;0.0726)|Breast(234;0.0949)|Glioma(114;0.172)|Melanoma(40;0.175)						A6PW00|Q69YM6|Q6ZT29	Silent	SNP	ENST00000298622.4	37	c.489C>T	CCDS44494.1																																																																																				0.612	JAKMIP3-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051049.3	NM_194303		11	25	0	0	0	1	0	11	25					T	133930934	C	T	133930934	2	4	435	1	0	0	0	0	0	0	0	1	7942	755	27	1		1	JAKMIP3	10	133930934	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	161746	133930934	1603813	4917	25842											
PWWP2B	170394	broad.mit.edu	37	chr10	134218982	134218982	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cggcctgtgccggccggcgcGgacctgccgccccctaagat	4	5	14	18	6	0	1	0	0	0	1	0	2	0	2	7	4	2	0	7	4	1	1	rs369362715		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:134218982G>A	ENST00000305233.5	+	2	1037	c.978G>A	c.(976-978)gcG>gcA	p.A326A	PWWP2B_ENST00000368609.4_Silent_p.A326A	NM_138499.3	NP_612508.3	Q6NUJ5	PWP2B_HUMAN	PWWP domain containing 2B	326										central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|urinary_tract(1)	9		all_cancers(35;6.69e-12)|all_epithelial(44;1.55e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Breast(234;0.106)|Colorectal(31;0.109)|Melanoma(40;0.123)|Glioma(114;0.203)|all_hematologic(284;0.224)		OV - Ovarian serous cystadenocarcinoma(35;7.49e-05)|Epithelial(32;0.00016)|all cancers(32;0.000186)		CGGCCGGCGCGGACCTGCCGC	0.716																																						ENST00000305233.5																			0				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|urinary_tract(1)	9						c.(976-978)gcG>gcA		PWWP domain containing 2B		G	,	1,4055		0,1,2027	9	14	12		978,978	-9.3	0	10		12	0,8170		0,0,4085	no	coding-synonymous,coding-synonymous	PWWP2B	NM_001098637.1,NM_138499.3	,	0,1,6112	AA,AG,GG		0.0,0.0247,0.0082	,	326/500,326/591	134218982	1,12225	2028	4085	6113	SO:0001819	synonymous_variant	170394							g.chr10:134218982G>A	AK128663	CCDS7667.2	10q26.3	2009-06-03	2007-10-22	2007-10-22	ENSG00000171813	ENSG00000171813			25150	protein-coding gene	gene with protein product			"PWWP domain containing 2"	PWWP2			Standard	NM_001098637		Approved	bA432J24.1, FLJ46823	uc001lll.4	Q6NUJ5	OTTHUMG00000019286	ENST00000305233.5:c.978G>A	10.37:g.134218982G>A						PWWP2B_ENST00000368609.4_Silent_p.A326A	p.A326A	NM_138499.3	NP_612508.3	Q6NUJ5	PWP2B_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;7.49e-05)|Epithelial(32;0.00016)|all cancers(32;0.000186)	2	1037	+		all_cancers(35;6.69e-12)|all_epithelial(44;1.55e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Breast(234;0.106)|Colorectal(31;0.109)|Melanoma(40;0.123)|Glioma(114;0.203)|all_hematologic(284;0.224)	326					A6NM90|B5MDQ1|H9KV61|Q5SZI0|Q6ZQX5|Q96F43	Silent	SNP	ENST00000305233.5	37	c.978G>A	CCDS7667.2																																																																																				0.716	PWWP2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051075.3	NM_138499		13	9	0	0	0	1	0	13	9					A	134218982	G	A	134218982	2	1	435	1	0	0	0	0	0	0	0	1	12846	1103	39	2		2	PWWP2B	10	134218982	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	288048	134218982	1315765	4918	25843											
INPP5A	3632	broad.mit.edu	37	chr10	134591246	134591246	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtgcccagcctggtgtgaccGcatcctcatgtccccgtctg	4	10	11	16	2	2	1	1	1	1	0	4	1	4	1	6	1	2	1	6	1	0	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:134591246G>A	ENST00000368594.3	+	13	1326	c.1049G>A	c.(1048-1050)cGc>cAc	p.R350H	INPP5A_ENST00000368593.3_Missense_Mutation_p.R350H	NM_005539.3	NP_005530.3	Q14642	I5P1_HUMAN	inositol polyphosphate-5-phosphatase, 40kDa	350					inositol phosphate metabolic process (GO:0043647)|phosphatidylinositol dephosphorylation (GO:0046856)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	inositol-1,3,4,5-tetrakisphosphate 5-phosphatase activity (GO:0052659)|inositol-1,4,5-trisphosphate 5-phosphatase activity (GO:0052658)|inositol-polyphosphate 5-phosphatase activity (GO:0004445)|PH domain binding (GO:0042731)			cervix(1)|kidney(1)|large_intestine(2)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15		all_cancers(35;8.59e-13)|all_epithelial(44;5.49e-09)|Lung NSC(174;0.000854)|all_lung(145;0.00146)|all_neural(114;0.0299)|Colorectal(31;0.0599)|Breast(234;0.0849)|Melanoma(40;0.124)|all_hematologic(284;0.196)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;0.000102)|Epithelial(32;0.00023)|all cancers(32;0.000326)		TGGTGTGACCGCATCCTCATG	0.652																																					Pancreas(63;823 1267 11107 20380 51626)	ENST00000368594.3																			0				cervix(1)|kidney(1)|large_intestine(2)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						c.(1048-1050)cGc>cAc		inositol polyphosphate-5-phosphatase, 40kDa							96	72	80					10																	134591246		2202	4297	6499	SO:0001583	missense	3632				cell communication	membrane	inositol 1,3,4,5-tetrakisphosphate 5-phosphatase activity|inositol-1,4,5-trisphosphate 5-phosphatase activity|inositol-polyphosphate 5-phosphatase activity|PH domain binding	g.chr10:134591246G>A	X77567	CCDS7669.2	10q26.3	2008-08-07	2002-08-29		ENSG00000068383	ENSG00000068383	3.1.3.56		6076	protein-coding gene	gene with protein product	"CTCL tumor antigen HD-CL-02", "43 kDa inositol polyphosphate 5-phophatase", "inositol polyphosphate 5-phophatase, 40kDa", "InsP3 5-phosphatase", "type I inositol-1,4,5-trisphosphate 5-phosphatase"	600106	"inositol polyphosphate-5-phosphatase, 40kD"			8013665	Standard	NM_005539		Approved	5PTASE	uc001llp.3	Q14642	OTTHUMG00000019293	ENST00000368594.3:c.1049G>A	10.37:g.134591246G>A	ENSP00000357583:p.Arg350His					INPP5A_ENST00000368593.3_Missense_Mutation_p.R350H	p.R350H	NM_005539.3	NP_005530.3	Q14642	I5P1_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;0.000102)|Epithelial(32;0.00023)|all cancers(32;0.000326)	13	1326	+		all_cancers(35;8.59e-13)|all_epithelial(44;5.49e-09)|Lung NSC(174;0.000854)|all_lung(145;0.00146)|all_neural(114;0.0299)|Colorectal(31;0.0599)|Breast(234;0.0849)|Melanoma(40;0.124)|all_hematologic(284;0.196)|Glioma(114;0.203)	350					D3DXI3|Q14640|Q5JSF1	Missense_Mutation	SNP	ENST00000368594.3	37	c.1049G>A	CCDS7669.2	.	.	.	.	.	.	.	.	.	.	G	32	5.128457	0.94473	.	.	ENSG00000068383	ENST00000368594;ENST00000368593;ENST00000416326;ENST00000432898;ENST00000445580	T;T;D	0.95272	-1.38;-1.38;-3.66	4.37	4.37	0.52481	Endonuclease/exonuclease/phosphatase (2);Inositol polyphosphate-related phosphatase (1);	0.000000	0.85682	D	0.000000	D	0.97595	0.9212	M	0.89095	3.005	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.87578	0.994;0.966;0.998	D	0.98737	1.0715	10	0.87932	D	0	-25.1995	17.3108	0.87210	0.0:0.0:1.0:0.0	.	293;350;350	F5GWM1;Q14642;Q5T1B5	.;I5P1_HUMAN;.	H	350;350;293;267;32	ENSP00000357583:R350H;ENSP00000357582:R350H;ENSP00000390749:R32H	ENSP00000357582:R350H	R	+	2	0	INPP5A	134441236	1.000000	0.71417	0.995000	0.50966	0.987000	0.75469	8.878000	0.92393	2.166000	0.68216	0.491000	0.48974	CGC		0.652	INPP5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051085.1	NM_005539		15	13	0	0	0	1	0	15	13					A	134591246	G	A	134591246	3	1	435	1	0	0	0	0	1	0	0	0	7754	1087	38	1	1099	1	INPP5A	10	134591246	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	372264	134591246	943501	4919	25844											
TUBGCP2	10844	broad.mit.edu	37	chr10	135098974	135098974	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccgcacctgttgatgatgagCgaaaggggccacttgacgat	10	8	13	10	3	0	4	0	4	0	0	0	6	0	4	3	2	1	2	3	2	1	2	rs370556173		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:135098974C>T	ENST00000252936.3	-	11	1920	c.1881G>A	c.(1879-1881)tcG>tcA	p.S627S	TUBGCP2_ENST00000368562.1_Silent_p.S220S|TUBGCP2_ENST00000543663.1_Silent_p.S655S|TUBGCP2_ENST00000368563.2_Silent_p.S627S|TUBGCP2_ENST00000417178.2_Silent_p.S497S			Q9BSJ2	GCP2_HUMAN	tubulin, gamma complex associated protein 2	627					G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)|protein complex assembly (GO:0006461)	centrosome (GO:0005813)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|spindle pole (GO:0000922)				breast(2)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(16)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	35		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.87e-06)|all cancers(32;8.98e-06)|Epithelial(32;1.15e-05)		TGATGATGAGCGAAAGGGGCC	0.637																																						ENST00000368563.2																			0				breast(2)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(16)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	35						c.(1879-1881)tcG>tcA		tubulin, gamma complex associated protein 2							39	43	42					10																	135098974		2202	4300	6502	SO:0001819	synonymous_variant	10844				G2/M transition of mitotic cell cycle|microtubule nucleation|protein complex assembly	centrosome|cytoplasmic microtubule|cytosol|spindle pole	protein binding	g.chr10:135098974C>T	AF042379	CCDS7676.1, CCDS58104.1, CCDS58105.1	10q26.3	2008-07-28			ENSG00000130640	ENSG00000130640			18599	protein-coding gene	gene with protein product						9566967	Standard	NM_001256617		Approved	GCP2, Spc97p, SPBC97	uc010qvc.2	Q9BSJ2	OTTHUMG00000019319	ENST00000252936.3:c.1881G>A	10.37:g.135098974C>T						TUBGCP2_ENST00000252936.3_Silent_p.S627S|TUBGCP2_ENST00000368562.1_Silent_p.S220S|TUBGCP2_ENST00000543663.1_Silent_p.S655S|TUBGCP2_ENST00000417178.2_Silent_p.S497S	p.S627S	NM_001256617.1|NM_006659.3	NP_001243546.1|NP_006650.1	Q9BSJ2	GCP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;8.87e-06)|all cancers(32;8.98e-06)|Epithelial(32;1.15e-05)	12	2237	-		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)	627					B4DM18|B7ZKL8|F5H4E0|F5H4L0|O43632|Q5VWX7	Silent	SNP	ENST00000252936.3	37	c.1881G>A	CCDS7676.1																																																																																				0.637	TUBGCP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051148.1			5	4	0	0	0	1	0	5	4					T	135098974	C	T	135098974	2	4	435	1	0	0	0	0	0	0	0	1	16763	755	27	1		1	TUBGCP2	10	135098974	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	507728	135098974	435773	4920	25845											
TUBGCP2	10844	broad.mit.edu	37	chr10	135106570	135106570	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggccaggatgtccatggtgcGcatggctggctggatgtaga	7	9	17	8	1	0	1	0	0	0	1	1	3	1	3	2	6	1	4	2	6	1	1	rs34832477	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:135106570G>A	ENST00000252936.3	-	6	1036	c.997C>T	c.(997-999)Cgc>Tgc	p.R333C	TUBGCP2_ENST00000368562.1_5'Flank|TUBGCP2_ENST00000543663.1_Missense_Mutation_p.R361C|TUBGCP2_ENST00000368563.2_Missense_Mutation_p.R333C|RP11-122K13.12_ENST00000424450.1_RNA|TUBGCP2_ENST00000417178.2_Missense_Mutation_p.R203C			Q9BSJ2	GCP2_HUMAN	tubulin, gamma complex associated protein 2	333					G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)|protein complex assembly (GO:0006461)	centrosome (GO:0005813)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|spindle pole (GO:0000922)				breast(2)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(16)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	35		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.87e-06)|all cancers(32;8.98e-06)|Epithelial(32;1.15e-05)		TCCATGGTGCGCATGGCTGGC	0.637													G|||	5	0.000998403	0.0038	0	5008	,	,		17965	0		0	False		,,,				2504	0					ENST00000368563.2																			0				breast(2)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(16)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	35						c.(997-999)Cgc>Tgc		tubulin, gamma complex associated protein 2		G	CYS/ARG	19,4387	26.2+/-53.5	0,19,2184	59	57	57		997	4.8	1	10	dbSNP_126	57	2,8598	2.2+/-6.3	0,2,4298	yes	missense	TUBGCP2	NM_006659.2	180	0,21,6482	AA,AG,GG		0.0233,0.4312,0.1615	probably-damaging	333/903	135106570	21,12985	2203	4300	6503	SO:0001583	missense	10844				G2/M transition of mitotic cell cycle|microtubule nucleation|protein complex assembly	centrosome|cytoplasmic microtubule|cytosol|spindle pole	protein binding	g.chr10:135106570G>A	AF042379	CCDS7676.1, CCDS58104.1, CCDS58105.1	10q26.3	2008-07-28			ENSG00000130640	ENSG00000130640			18599	protein-coding gene	gene with protein product						9566967	Standard	NM_001256617		Approved	GCP2, Spc97p, SPBC97	uc010qvc.2	Q9BSJ2	OTTHUMG00000019319	ENST00000252936.3:c.997C>T	10.37:g.135106570G>A	ENSP00000252936:p.Arg333Cys					TUBGCP2_ENST00000252936.3_Missense_Mutation_p.R333C|TUBGCP2_ENST00000543663.1_Missense_Mutation_p.R361C|TUBGCP2_ENST00000417178.2_Missense_Mutation_p.R203C	p.R333C	NM_001256617.1|NM_006659.3	NP_001243546.1|NP_006650.1	Q9BSJ2	GCP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;8.87e-06)|all cancers(32;8.98e-06)|Epithelial(32;1.15e-05)	7	1353	-		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)	333					B4DM18|B7ZKL8|F5H4E0|F5H4L0|O43632|Q5VWX7	Missense_Mutation	SNP	ENST00000252936.3	37	c.997C>T	CCDS7676.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	18.27	3.587245	0.66105	0.004312	2.33E-4	ENSG00000130640	ENST00000252936;ENST00000417178;ENST00000368563;ENST00000543663	T;T;T;T	0.09538	2.97;2.97;2.97;2.97	4.78	4.78	0.61160	.	0.000000	0.85682	D	0.000000	T	0.28001	0.0690	M	0.71036	2.16	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.69479	0.94;0.964;0.964	T	0.00599	-1.1651	10	0.40728	T	0.16	-31.0033	10.9485	0.47315	0.0:0.0:0.7068:0.2932	rs34832477	361;361;333	F5H4L0;B7ZKL8;Q9BSJ2	.;.;GCP2_HUMAN	C	333;203;333;361	ENSP00000252936:R333C;ENSP00000395666:R203C;ENSP00000357551:R333C;ENSP00000446093:R361C	ENSP00000252936:R333C	R	-	1	0	TUBGCP2	134956560	1.000000	0.71417	1.000000	0.80357	0.930000	0.56654	2.595000	0.46197	2.375000	0.81037	0.561000	0.74099	CGC		0.637	TUBGCP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051148.1			11	17	0	0	0	1	0	11	17					A	135106570	G	A	135106570	3	1	435	1	0	0	0	0	1	0	0	0	16763	1087	38	1	1759	1	TUBGCP2	10	135106570	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	7596	135106570	428177	4921	25846											
TUBGCP2	10844	broad.mit.edu	37	chr10	135116328	135116328	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcagagacagtggtagtgaCgtacggggtcctgttctttt	8	12	14	7	2	1	2	0	1	1	1	2	3	2	2	1	3	2	4	1	3	2	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:135116328C>T	ENST00000252936.3	-	1	157	c.118G>A	c.(118-120)Gtc>Atc	p.V40I	TUBGCP2_ENST00000543663.1_Missense_Mutation_p.V40I|TUBGCP2_ENST00000368563.2_Missense_Mutation_p.V40I|TUBGCP2_ENST00000417178.2_Intron|TUBGCP2_ENST00000470829.1_5'UTR			Q9BSJ2	GCP2_HUMAN	tubulin, gamma complex associated protein 2	40					G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)|protein complex assembly (GO:0006461)	centrosome (GO:0005813)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|spindle pole (GO:0000922)				breast(2)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(16)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	35		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.87e-06)|all cancers(32;8.98e-06)|Epithelial(32;1.15e-05)		GTGGTAGTGACGTACGGGGTC	0.572																																						ENST00000368563.2																			0				breast(2)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(16)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	35						c.(118-120)Gtc>Atc		tubulin, gamma complex associated protein 2							286	203	231					10																	135116328		2203	4300	6503	SO:0001583	missense	10844				G2/M transition of mitotic cell cycle|microtubule nucleation|protein complex assembly	centrosome|cytoplasmic microtubule|cytosol|spindle pole	protein binding	g.chr10:135116328C>T	AF042379	CCDS7676.1, CCDS58104.1, CCDS58105.1	10q26.3	2008-07-28			ENSG00000130640	ENSG00000130640			18599	protein-coding gene	gene with protein product						9566967	Standard	NM_001256617		Approved	GCP2, Spc97p, SPBC97	uc010qvc.2	Q9BSJ2	OTTHUMG00000019319	ENST00000252936.3:c.118G>A	10.37:g.135116328C>T	ENSP00000252936:p.Val40Ile					TUBGCP2_ENST00000252936.3_Missense_Mutation_p.V40I|TUBGCP2_ENST00000470829.1_5'UTR|TUBGCP2_ENST00000543663.1_Missense_Mutation_p.V40I|TUBGCP2_ENST00000417178.2_Intron	p.V40I	NM_001256617.1|NM_006659.3	NP_001243546.1|NP_006650.1	Q9BSJ2	GCP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;8.87e-06)|all cancers(32;8.98e-06)|Epithelial(32;1.15e-05)	2	474	-		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)	40					B4DM18|B7ZKL8|F5H4E0|F5H4L0|O43632|Q5VWX7	Missense_Mutation	SNP	ENST00000252936.3	37	c.118G>A	CCDS7676.1	.	.	.	.	.	.	.	.	.	.	C	16.09	3.024614	0.54683	.	.	ENSG00000130640	ENST00000252936;ENST00000368563;ENST00000543663	T;T;T	0.41400	1.0;1.0;1.0	4.39	4.39	0.52855	.	0.000000	0.85682	D	0.000000	T	0.28499	0.0705	L	0.28740	0.885	0.80722	D	1	P;P;P	0.39903	0.687;0.56;0.694	B;B;B	0.31390	0.129;0.061;0.051	T	0.09058	-1.0692	10	0.27082	T	0.32	-44.0797	15.9227	0.79589	0.0:1.0:0.0:0.0	.	40;40;40	F5H4L0;B7ZKL8;Q9BSJ2	.;.;GCP2_HUMAN	I	40	ENSP00000252936:V40I;ENSP00000357551:V40I;ENSP00000446093:V40I	ENSP00000252936:V40I	V	-	1	0	TUBGCP2	134966318	1.000000	0.71417	0.086000	0.20670	0.939000	0.58152	7.060000	0.76692	2.168000	0.68352	0.467000	0.42956	GTC		0.572	TUBGCP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051148.1			15	41	0	0	0	1	0	15	41					T	135116328	C	T	135116328	3	4	435	1	0	0	0	0	1	0	0	0	16763	536	19	1	2658	1	TUBGCP2	10	135116328	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	9758	135116328	418419	4922	25847											
PAOX	92170	broad.mit.edu	37	chr10	135204901	135204901	+	5'Flank	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gctgtcgggatggagggaggCcgaccgcctcctcagtctgt	5	8	16	12	3	2	0	1	0	1	0	4	4	3	3	4	4	0	1	4	4	0	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:135204901C>T	ENST00000317502.6	+	0	0				PAOX_ENST00000368535.2_3'UTR|PAOX_ENST00000278060.5_Missense_Mutation_p.A493V|PAOX_ENST00000368539.4_3'UTR|MTG1_ENST00000477902.2_5'Flank|PAOX_ENST00000480071.2_3'UTR|PAOX_ENST00000357296.3_Silent_p.G440G|RP11-108K14.8_ENST00000468317.2_Silent_p.G32G	NM_138384.2	NP_612393.2	Q9BT17	MTG1_HUMAN	mitochondrial ribosome-associated GTPase 1						GTP catabolic process (GO:0006184)|regulation of mitochondrial translation (GO:0070129)|regulation of respiratory system process (GO:0044065)|ribosome biogenesis (GO:0042254)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial ribosome (GO:0005761)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			endometrium(1)|large_intestine(5)|lung(5)|ovary(2)|skin(1)|urinary_tract(1)	15		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;1.21e-06)|all cancers(32;1.69e-06)|Epithelial(32;1.94e-06)		TGGAGGGAGGCCGACCGCCTC	0.662																																						ENST00000278060.5																			0				cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|urinary_tract(2)	23						c.(1477-1479)gCc>gTc		polyamine oxidase (exo-N4-amino)							55	59	58					10																	135204901		2203	4299	6502	SO:0001631	upstream_gene_variant	196743				polyamine biosynthetic process|xenobiotic metabolic process	peroxisomal matrix	polyamine oxidase activity	g.chr10:135204901C>T		CCDS31320.1	10q26.3	2013-05-24	2013-05-24	2006-01-09	ENSG00000148824	ENSG00000148824			32159	protein-coding gene	gene with protein product			"GTP-binding protein 7", "GTP-binding protein 7 (putative)", "mitochondrial GTPase 1 homolog (S. cerevisiae)"	GTPBP7		12808030, 23396448	Standard	NM_138384		Approved		uc001lnd.3	Q9BT17	OTTHUMG00000166564		10.37:g.135204901C>T	Exception_encountered					RP11-108K14.8_ENST00000468317.2_Silent_p.G32G|PAOX_ENST00000357296.3_Silent_p.G440G|PAOX_ENST00000480071.2_3'UTR|PAOX_ENST00000368539.4_3'UTR|PAOX_ENST00000368535.2_3'UTR	p.A493V	NM_152911.2	NP_690875.1	Q6QHF9	PAOX_HUMAN		all cancers(32;4.39e-07)|OV - Ovarian serous cystadenocarcinoma(35;1.21e-06)|Epithelial(32;1.94e-06)	7	1561	+		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)	631					Q5VWX8|Q6PIY9|Q8IYJ4|Q8NC48|Q9BVU8	Missense_Mutation	SNP	ENST00000317502.6	37	c.1478C>T	CCDS31320.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	29.4|29.4	4.999987|4.999987	0.93227|0.93227	.|.	.|.	ENSG00000148832|ENSG00000148832	ENST00000368542;ENST00000368538;ENST00000278060|ENST00000368544;ENST00000368534	D|.	0.98531|.	-4.98|.	5.05|5.05	5.05|5.05	0.67936|0.67936	.|.	0.047890|.	0.85682|.	D|.	0.000000|.	T|T	0.71350|0.71350	0.3329|0.3329	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.97110|.	1.0|.	T|T	0.69465|0.69465	-0.5138|-0.5138	9|5	0.87932|0.37606	D|T	0|0.19	-14.3342|-14.3342	15.9313|15.9313	0.79663|0.79663	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	493|.	Q6QHF9-2|.	.|.	V|S	445;214;493|52;82	ENSP00000278060:A493V|.	ENSP00000278060:A493V|ENSP00000357522:P82S	A|P	+|+	2|1	0|0	PAOX|PAOX	135054891|135054891	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.691000|0.691000	0.40173|0.40173	6.949000|6.949000	0.75971|0.75971	2.628000|2.628000	0.89032|0.89032	0.563000|0.563000	0.77884|0.77884	GCC|CCG		0.662	MTG1-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051166.1	NM_138384		19	46	0	0	0	1	0	19	46					T	135204901	C	T	135204901	1	4	435	0	1	0	0	0	0	0	0	0	11423	739	26	3		3	PAOX	10	135204901	5'Flank	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	88573	135204901	329846	4923	25848											
CYP2E1	1571	broad.mit.edu	37	chr10	135352437	135352437	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtttggctgtatcccaccacGttacaaactctgtgtcattc	8	14	7	12	1	2	0	1	0	1	0	4	0	3	0	2	1	2	4	2	1	3	4	rs55982231		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:135352437G>A	ENST00000463117.2	+	11	1723	c.1451G>A	c.(1450-1452)cGt>cAt	p.R484H	CYP2E1_ENST00000252945.3_Missense_Mutation_p.R484H|SPRN_ENST00000541506.1_Intron			P05181	CP2E1_HUMAN	cytochrome P450, family 2, subfamily E, polypeptide 1	484					drug metabolic process (GO:0017144)|heterocycle metabolic process (GO:0046483)|monoterpenoid metabolic process (GO:0016098)|oxidation-reduction process (GO:0055114)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to organonitrogen compound (GO:0010243)|response to ozone (GO:0010193)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|triglyceride metabolic process (GO:0006641)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)|mitochondrion (GO:0005739)	enzyme binding (GO:0019899)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity (GO:0016491)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen (GO:0016709)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen (GO:0016712)|oxygen binding (GO:0019825)			NS(1)|central_nervous_system(3)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(7)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)	Acetaminophen(DB00316)|Aldesleukin(DB00041)|Almotriptan(DB00918)|Alosetron(DB00969)|Aminophylline(DB01223)|Amitriptyline(DB00321)|Antipyrine(DB01435)|Azelastine(DB00972)|Benzyl alcohol(DB06770)|Bifonazole(DB04794)|Bromazepam(DB01558)|Brompheniramine(DB00835)|Bupropion(DB01156)|Caffeine(DB00201)|Carbinoxamine(DB00748)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cimetidine(DB00501)|Citalopram(DB00215)|Clevidipine(DB04920)|Clofibrate(DB00636)|Clomifene(DB00882)|Clonazepam(DB01068)|Clotrimazole(DB00257)|Clozapine(DB00363)|Colchicine(DB01394)|Dacarbazine(DB00851)|Dalfampridine(DB06637)|Dapsone(DB00250)|Desipramine(DB01151)|Dexamethasone(DB01234)|Dexfenfluramine(DB01191)|Dexmedetomidine(DB00633)|Dextromethorphan(DB00514)|Diazepam(DB00829)|Diclofenac(DB00586)|Diethylstilbestrol(DB00255)|Disulfiram(DB00822)|Econazole(DB01127)|Enflurane(DB00228)|Enfuvirtide(DB00109)|Estrone(DB00655)|Ethanol(DB00898)|Ethanolamine Oleate(DB06689)|Ethosuximide(DB00593)|Etoposide(DB00773)|Etoricoxib(DB01628)|Felbamate(DB00949)|Fingolimod(DB08868)|Flunitrazepam(DB01544)|Fluphenazine(DB00623)|Flurazepam(DB00690)|Fluvoxamine(DB00176)|Folic Acid(DB00158)|Fomepizole(DB01213)|Glucosamine(DB01296)|Halothane(DB01159)|Hexobarbital(DB01355)|Iloperidone(DB04946)|Imipramine(DB00458)|Isoflurane(DB00753)|Isoniazid(DB00951)|Isosorbide Dinitrate(DB00883)|Itraconazole(DB01167)|Menadione(DB00170)|Meprobamate(DB00371)|Methazolamide(DB00703)|Methimazole(DB00763)|Methotrimeprazine(DB01403)|Methoxyflurane(DB01028)|Metyrapone(DB01011)|Mexiletine(DB00379)|Miconazole(DB01110)|Midazolam(DB00683)|Mitoxantrone(DB01204)|Nicardipine(DB00622)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nitrazepam(DB01595)|Nortriptyline(DB00540)|Ondansetron(DB00904)|Orphenadrine(DB01173)|Oxaliplatin(DB00526)|Paramethadione(DB00617)|Phenelzine(DB00780)|Phenobarbital(DB01174)|Pilocarpine(DB01085)|Pimozide(DB01100)|Proguanil(DB01131)|Propofol(DB00818)|Quinidine(DB00908)|Quinine(DB00468)|Rifampicin(DB01045)|Ritonavir(DB00503)|Rufinamide(DB06201)|S-Adenosylmethionine(DB00118)|Selegiline(DB01037)|Sevoflurane(DB01236)|Sildenafil(DB00203)|Streptozocin(DB00428)|Sulfadiazine(DB00359)|Sulfanilamide(DB00259)|Tamoxifen(DB00675)|Thalidomide(DB01041)|Theobromine(DB01412)|Theophylline(DB00277)|Thiopental(DB00599)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tioconazole(DB01007)|Trabectedin(DB05109)|Tranylcypromine(DB00752)|Trimethadione(DB00347)|Ursodeoxycholic acid(DB01586)|Zafirlukast(DB00549)|Zopiclone(DB01198)	ATCCCACCACGTTACAAACTC	0.458									Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of																													ENST00000463117.2																			0				NS(1)|central_nervous_system(3)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(7)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						c.(1450-1452)cGt>cAt		cytochrome P450, family 2, subfamily E, polypeptide 1	Acetaminophen(DB00316)|Chlorzoxazone(DB00356)|Cinnarizine(DB00568)|Clofibrate(DB00636)|Dacarbazine(DB00851)|Dapsone(DB00250)|Enflurane(DB00228)|Eszopiclone(DB00402)|Ethanol(DB00898)|Ethosuximide(DB00593)|Fomepizole(DB01213)|Glutathione(DB00143)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Isoniazid(DB00951)|Menadione(DB00170)|Mephenytoin(DB00532)|Methoxyflurane(DB01028)|Midazolam(DB00683)|Mitoxantrone(DB01204)|Nicotine(DB00184)|Nifedipine(DB01115)|Nitrofurantoin(DB00698)|Orphenadrine(DB01173)|Phenelzine(DB00780)|Quinidine(DB00908)|S-Adenosylmethionine(DB00118)|Sevoflurane(DB01236)|Theophylline(DB00277)|Tolbutamide(DB01124)						129	106	113					10																	135352437		2203	4300	6503	SO:0001583	missense	1571	Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of	Familial Cancer Database	incl.: Familial Head and Neck Cancer	drug metabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|enzyme binding|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NADH or NADPH as one donor, and incorporation of one atom of oxygen|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen|oxygen binding	g.chr10:135352437G>A	J02843	CCDS7686.1	10q26.3	2013-05-03	2003-01-14	2002-09-13	ENSG00000130649	ENSG00000130649		"Cytochrome P450s"	2631	protein-coding gene	gene with protein product		124040	"cytochrome P450, subfamily IIE (ethanol-inducible), polypeptide 1"	CYP2E			Standard	NM_000773		Approved		uc001lnj.1	P05181	OTTHUMG00000019322	ENST00000463117.2:c.1451G>A	10.37:g.135352437G>A	ENSP00000440689:p.Arg484His					SPRN_ENST00000541506.1_Intron|CYP2E1_ENST00000252945.3_Missense_Mutation_p.R484H	p.R484H			P05181	CP2E1_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)	11	1723	+		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)	484					Q5VZD5|Q6NWT9|Q9UK47	Missense_Mutation	SNP	ENST00000463117.2	37	c.1451G>A	CCDS7686.1	.	.	.	.	.	.	.	.	.	.	G	3.738	-0.054095	0.07362	.	.	ENSG00000130649	ENST00000463117;ENST00000252945	T;T	0.01279	5.06;5.06	5.1	-10.2	0.00374	.	1.925970	0.01911	N	0.039861	T	0.00906	0.0030	N	0.25094	0.71	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.48222	-0.9054	10	0.12766	T	0.61	.	3.2631	0.06855	0.1428:0.3609:0.3187:0.1777	rs55982231;rs62621989	484	P05181	CP2E1_HUMAN	H	484	ENSP00000440689:R484H;ENSP00000252945:R484H	ENSP00000252945:R484H	R	+	2	0	CYP2E1	135202427	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-0.822000	0.04448	-2.379000	0.00595	-0.459000	0.05422	CGT		0.458	CYP2E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051161.2	NM_000773		24	41	0	0	0	1	0	24	41					A	135352437	G	A	135352437	3	1	435	1	0	0	0	0	1	0	0	0	4170	1145	40	1	1485	1	CYP2E1	10	135352437	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	147536	135352437	182310	4924	25849											
RIC8A	60626	broad.mit.edu	37	chr11	214299	214299	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tccctgcaggatgccatgtgCgagactatggagcagcagct	9	8	13	11	1	0	1	0	0	0	1	1	4	1	3	2	2	6	4	2	2	1	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:214299C>T	ENST00000526104.1	+	10	2889	c.1545C>T	c.(1543-1545)tgC>tgT	p.C515C	RIC8A_ENST00000531541.1_3'UTR|RIC8A_ENST00000527696.1_Silent_p.C509C|RIC8A_ENST00000325207.5_Silent_p.C521C			Q9NPQ8	RIC8A_HUMAN	RIC8 guanine nucleotide exchange factor A	515					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|basement membrane organization (GO:0071711)|cell migration involved in gastrulation (GO:0042074)|cell-cell adhesion involved in gastrulation (GO:0070586)|in utero embryonic development (GO:0001701)|vasculature development (GO:0001944)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)			endometrium(3)|kidney(1)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)|skin(1)	13		all_cancers(49;9.23e-07)|all_epithelial(84;0.000315)|Breast(177;0.00122)|Ovarian(85;0.0202)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;4.45e-27)|Epithelial(43;2.94e-26)|OV - Ovarian serous cystadenocarcinoma(40;5.86e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.105)|LUSC - Lung squamous cell carcinoma(625;0.122)		ATGCCATGTGCGAGACTATGG	0.607																																						ENST00000526104.1																			0				endometrium(3)|kidney(1)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)|skin(1)	13						c.(1543-1545)tgC>tgT		RIC8 guanine nucleotide exchange factor A							98	76	84					11																	214299		2203	4300	6503	SO:0001819	synonymous_variant	60626					cytoplasm|plasma membrane	guanyl-nucleotide exchange factor activity	g.chr11:214299C>T	AK022870	CCDS7690.1, CCDS65982.1	11p15.5	2013-08-05	2013-08-05		ENSG00000177963	ENSG00000177963			29550	protein-coding gene	gene with protein product		609146	"resistance to inhibitors of cholinesterase 8 homolog A (C. elegans)"			10985349, 11230166	Standard	XM_005253052		Approved	synembryn, synembryn-A	uc001lof.3	Q9NPQ8	OTTHUMG00000119069	ENST00000526104.1:c.1545C>T	11.37:g.214299C>T						RIC8A_ENST00000527696.1_Silent_p.C509C|RIC8A_ENST00000325207.5_Silent_p.C521C|RIC8A_ENST00000531541.1_3'UTR	p.C515C			Q9NPQ8	RIC8A_HUMAN		all cancers(45;4.45e-27)|Epithelial(43;2.94e-26)|OV - Ovarian serous cystadenocarcinoma(40;5.86e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.105)|LUSC - Lung squamous cell carcinoma(625;0.122)	10	2889	+		all_cancers(49;9.23e-07)|all_epithelial(84;0.000315)|Breast(177;0.00122)|Ovarian(85;0.0202)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)	515					Q0P508|Q2T9J1|Q7Z352|Q96EZ1|Q96SZ2|Q9H064|Q9H5H3|Q9H9E7	Silent	SNP	ENST00000526104.1	37	c.1545C>T		.	.	.	.	.	.	.	.	.	.	C	14.17	2.455920	0.43634	.	.	ENSG00000177963	ENST00000524854;ENST00000529275	.	.	.	4.83	-2.52	0.06346	.	.	.	.	.	.	.	.	.	.	.	0.42200	D	0.991768	.	.	.	.	.	.	.	.	.	.	.	.	.	-11.0855	8.25	0.31712	0.0:0.3043:0.111:0.5847	.	.	.	.	X	131;82	.	.	R	+	1	2	RIC8A	204299	0.000000	0.05858	0.920000	0.36463	0.974000	0.67602	-1.838000	0.01687	-0.567000	0.06046	-0.140000	0.14226	CGA		0.607	RIC8A-002	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000384761.1	NM_021932		6	13	0	0	0	1	0	6	13					T	214299	C	T	214299	2	4	435	1	0	0	0	0	0	0	0	1	13355	776	27	1		1	RIC8A	11	214299	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08		214299	134792217	4925	25850											
ATHL1	80162	broad.mit.edu	37	chr11	294384	294384	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctctttttccgaggactcCgtgaccgtggaggtcacagc	6	12	11	12	3	2	1	1	1	1	0	5	4	4	3	3	3	1	0	3	3	0	3	rs141863244		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:294384C>T	ENST00000409548.2	+	13	2041	c.1926C>T	c.(1924-1926)tcC>tcT	p.S642S	ATHL1_ENST00000409479.1_Silent_p.S669S|ATHL1_ENST00000409655.1_Silent_p.S394S	NM_025092.4	NP_079368.3	Q32M88	ATHL1_HUMAN	ATH1, acid trehalase-like 1 (yeast)	642					carbohydrate metabolic process (GO:0005975)		hydrolase activity, acting on glycosyl bonds (GO:0016798)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|liver(1)|lung(7)|prostate(1)|skin(3)	17		all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;5.38e-28)|Epithelial(43;3.25e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0327)|LUSC - Lung squamous cell carcinoma(625;0.122)		CCGAGGACTCCGTGACCGTGG	0.602																																						ENST00000409548.2																			0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|liver(1)|lung(7)|prostate(1)|skin(3)	17						c.(1924-1926)tcC>tcT		ATH1, acid trehalase-like 1 (yeast)		C		1,4405	2.1+/-5.4	0,1,2202	78	86	83		1926	-8.4	0	11	dbSNP_134	83	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	ATHL1	NM_025092.4		0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154		642/738	294384	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	80162				carbohydrate metabolic process		hydrolase activity, acting on glycosyl bonds	g.chr11:294384C>T	AK090428	CCDS31322.2	11p15.5	2005-10-27			ENSG00000142102	ENSG00000142102			26210	protein-coding gene	gene with protein product							Standard	NM_025092		Approved	FLJ22635	uc010qvu.2	Q32M88	OTTHUMG00000153218	ENST00000409548.2:c.1926C>T	11.37:g.294384C>T						ATHL1_ENST00000409655.1_Silent_p.S394S|ATHL1_ENST00000409479.1_Silent_p.S669S	p.S642S	NM_025092.4	NP_079368.3	Q32M88	ATHL1_HUMAN		all cancers(45;5.38e-28)|Epithelial(43;3.25e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0327)|LUSC - Lung squamous cell carcinoma(625;0.122)	13	2041	+		all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)	642					Q658X8|Q8TEG9|Q9H635	Silent	SNP	ENST00000409548.2	37	c.1926C>T	CCDS31322.2	.	.	.	.	.	.	.	.	.	.	C	4.482	0.089413	0.08632	2.27E-4	1.16E-4	ENSG00000142102	ENST00000397660	.	.	.	4.22	-8.45	0.00946	.	.	.	.	.	T	0.17789	0.0427	.	.	.	0.18873	N	0.999983	.	.	.	.	.	.	T	0.08953	-1.0697	4	.	.	.	.	3.8519	0.08959	0.1419:0.0938:0.2896:0.4747	.	.	.	.	C	103	.	.	R	+	1	0	ATHL1	284384	0.000000	0.05858	0.000000	0.03702	0.024000	0.10985	-4.815000	0.00182	-3.403000	0.00170	-0.368000	0.07277	CGT		0.602	ATHL1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000330164.3	NM_025092		7	70	0	0	0	1	0	7	70					T	294384	C	T	294384	2	4	435	1	0	0	0	0	0	0	0	1	1104	639	23	2		2	ATHL1	11	294384	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	80085	294384	134712132	4926	25851											
B4GALNT4	338707	broad.mit.edu	37	chr11	376473	376473	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcgacagcctggagcccacCgaggcggccccgcccaggag	7	2	14	18	4	0	0	0	0	0	0	1	4	0	2	6	4	2	0	6	4	0	0	rs375138819		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:376473C>T	ENST00000329962.6	+	14	1350	c.1350C>T	c.(1348-1350)acC>acT	p.T450T		NM_178537.4	NP_848632.2	Q76KP1	B4GN4_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 4	450	Pro-rich.				metabolic process (GO:0008152)	Golgi cisterna membrane (GO:0032580)|integral component of membrane (GO:0016021)	acetylgalactosaminyltransferase activity (GO:0008376)|N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity (GO:0033842)			endometrium(2)|kidney(4)|large_intestine(1)|liver(2)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	24		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)		TGGAGCCCACCGAGGCGGCCC	0.781																																						ENST00000329962.6																			0				endometrium(2)|kidney(4)|large_intestine(1)|liver(2)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	24						c.(1348-1350)acC>acT		beta-1,4-N-acetyl-galactosaminyl transferase 4		C		0,4330		0,0,2165	14	17	16		1350	-7.2	0	11		16	1,8527		0,1,4263	no	coding-synonymous	B4GALNT4	NM_178537.4		0,1,6428	TT,TC,CC		0.0117,0.0,0.0078		450/1040	376473	1,12857	2165	4264	6429	SO:0001819	synonymous_variant	338707					Golgi cisterna membrane|integral to membrane	N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity	g.chr11:376473C>T	AB089939	CCDS7694.1	11p15.5	2013-02-19			ENSG00000182272	ENSG00000182272	2.4.1.-	"Beta 4-glycosyltransferases"	26315	protein-coding gene	gene with protein product						15044014	Standard	NM_178537		Approved	FLJ25045, NGalNAc-T1	uc001lpb.3	Q76KP1	OTTHUMG00000119075	ENST00000329962.6:c.1350C>T	11.37:g.376473C>T							p.T450T	NM_178537.4	NP_848632.2	Q76KP1	B4GN4_HUMAN		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)	14	1350	+		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)	450			Pro-rich.		Q96LV2	Silent	SNP	ENST00000329962.6	37	c.1350C>T	CCDS7694.1																																																																																				0.781	B4GALNT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239289.2	NM_178537		6	9	0	0	0	1	0	6	9					T	376473	C	T	376473	2	4	435	1	0	0	0	0	0	0	0	1	1269	639	23	2		2	B4GALNT4	11	376473	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	82089	376473	134630043	4927	25852											
B4GALNT4	338707	broad.mit.edu	37	chr11	380447	380447	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgccccgggacccccacggTgaggccccgagcgtcccacc	5	3	12	21	5	0	1	0	1	0	0	2	3	1	2	8	3	1	0	8	3	0	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:380447T>C	ENST00000329962.6	+	18	2869		c.e18+2			NM_178537.4	NP_848632.2	Q76KP1	B4GN4_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 4						metabolic process (GO:0008152)	Golgi cisterna membrane (GO:0032580)|integral component of membrane (GO:0016021)	acetylgalactosaminyltransferase activity (GO:0008376)|N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity (GO:0033842)			endometrium(2)|kidney(4)|large_intestine(1)|liver(2)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	24		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)		ACCCCCACGGTGAGGCCCCGA	0.701																																						ENST00000329962.6																			0				endometrium(2)|kidney(4)|large_intestine(1)|liver(2)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	24						c.e18+2		beta-1,4-N-acetyl-galactosaminyl transferase 4							16	16	16					11																	380447		2183	4248	6431	SO:0001630	splice_region_variant	338707					Golgi cisterna membrane|integral to membrane	N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity	g.chr11:380447T>C	AB089939	CCDS7694.1	11p15.5	2013-02-19			ENSG00000182272	ENSG00000182272	2.4.1.-	"Beta 4-glycosyltransferases"	26315	protein-coding gene	gene with protein product						15044014	Standard	NM_178537		Approved	FLJ25045, NGalNAc-T1	uc001lpb.3	Q76KP1	OTTHUMG00000119075	ENST00000329962.6:c.2869+2T>C	11.37:g.380447T>C								NM_178537.4	NP_848632.2	Q76KP1	B4GN4_HUMAN		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)	18	2869	+		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)						Q96LV2	Splice_Site	SNP	ENST00000329962.6	37		CCDS7694.1	.	.	.	.	.	.	.	.	.	.	T	10.35	1.327163	0.24080	.	.	ENSG00000182272	ENST00000329962	.	.	.	3.81	3.81	0.43845	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.5991	0.50993	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	B4GALNT4	370447	1.000000	0.71417	0.789000	0.31954	0.054000	0.15201	5.383000	0.66219	1.721000	0.51461	0.459000	0.35465	.		0.701	B4GALNT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239289.2	NM_178537	Intron	6	6	0	0	0	1	0	6	6					C	380447	T	C	380447	5	2	435	1	0	0	0	0	0	0	1	0	1269	1710	59	4	2941	4	B4GALNT4	11	380447	Splice_Site	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	3974	380447	134626069	4928	25853											
SIGIRR	59307	broad.mit.edu	37	chr11	406440	406440	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcagcatggggtccttgtcGtcctgcagctgcgtctgggg	4	11	15	11	2	2	0	1	0	1	0	5	0	4	0	2	4	4	3	2	4	0	1	rs569951384		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:406440G>A	ENST00000431843.2	-	9	1284	c.978C>T	c.(976-978)gaC>gaT	p.D326D	SIGIRR_ENST00000529486.1_5'Flank|SIGIRR_ENST00000531205.1_Silent_p.D326D|SIGIRR_ENST00000332725.3_Silent_p.D326D|SIGIRR_ENST00000382520.2_Silent_p.D326D|SIGIRR_ENST00000397632.3_Silent_p.D326D	NM_001135054.1	NP_001128526.1	Q6IA17	SIGIR_HUMAN	single immunoglobulin and toll-interleukin 1 receptor (TIR) domain	326					acute-phase response (GO:0006953)|negative regulation of chemokine biosynthetic process (GO:0045079)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|negative regulation of lipopolysaccharide-mediated signaling pathway (GO:0031665)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|membrane (GO:0016020)				cervix(2)|endometrium(1)|liver(1)|lung(5)|prostate(2)|skin(1)|urinary_tract(1)	13		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GGTCCTTGTCGTCCTGCAGCT	0.642																																						ENST00000431843.2																			0				cervix(2)|endometrium(1)|liver(1)|lung(5)|prostate(2)|skin(1)|urinary_tract(1)	13						c.(976-978)gaC>gaT		single immunoglobulin and toll-interleukin 1 receptor (TIR) domain							56	64	61					11																	406440		2200	4293	6493	SO:0001819	synonymous_variant	59307				acute-phase response|innate immune response|negative regulation of chemokine biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of lipopolysaccharide-mediated signaling pathway|negative regulation of sequence-specific DNA binding transcription factor activity	integral to membrane	protein binding|transmembrane receptor activity	g.chr11:406440G>A		CCDS31325.1	11p15.5	2013-01-11	2005-10-10					"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	30575	protein-coding gene	gene with protein product	"single immunoglobulin domain IL1R1 related"	605478				10346978	Standard	NM_021805		Approved	TIR8	uc001lpe.1	Q6IA17		ENST00000431843.2:c.978C>T	11.37:g.406440G>A						SIGIRR_ENST00000382520.2_Silent_p.D326D|SIGIRR_ENST00000397632.3_Silent_p.D326D|SIGIRR_ENST00000531205.1_Silent_p.D326D|SIGIRR_ENST00000332725.3_Silent_p.D326D	p.D326D	NM_001135054.1	NP_001128526.1	Q6IA17	SIGIR_HUMAN		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)	9	1284	-		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)	326					Q3KQY2|Q6UXI3|Q9H733	Silent	SNP	ENST00000431843.2	37	c.978C>T	CCDS31325.1	.	.	.	.	.	.	.	.	.	.	g	29.1	4.976945	0.92982	.	.	ENSG00000185187	ENST00000526395	.	.	.	3.01	-4.05	0.03998	.	.	.	.	.	T	0.38188	0.1031	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.36890	-0.9729	4	.	.	.	.	1.8893	0.03244	0.4059:0.2637:0.2238:0.1067	.	.	.	.	M	58	.	.	T	-	2	0	SIGIRR	396440	0.144000	0.22641	0.993000	0.49108	0.519000	0.34347	-0.664000	0.05292	-0.529000	0.06358	0.491000	0.48974	ACG		0.642	SIGIRR-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383884.3	NM_021805		20	39	0	0	0	1	0	20	39					A	406440	G	A	406440	2	1	435	1	0	0	0	0	0	0	0	1	14304	1136	40	1		1	SIGIRR	11	406440	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	25993	406440	134600076	4929	25854											
ANO9	338440	broad.mit.edu	37	chr11	420840	420840	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	actcggaggcccgcagagagCggcacttgtgggtcacccac	8	5	14	14	3	1	1	1	0	0	1	2	3	1	2	2	4	1	2	2	4	0	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:420840C>T	ENST00000332826.6	-	18	1595	c.1511G>A	c.(1510-1512)cGc>cAc	p.R504H		NM_001012302.2	NP_001012302	A1A5B4	ANO9_HUMAN	anoctamin 9	504					calcium activated galactosylceramide scrambling (GO:0061591)|calcium activated phosphatidylcholine scrambling (GO:0061590)|calcium activated phosphatidylserine scrambling (GO:0061589)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|negative regulation of intracellular calcium activated chloride channel activity (GO:1902939)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)|phospholipid scramblase activity (GO:0017128)			central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|lung(5)|ovary(1)|prostate(4)|skin(4)	21						CCGCAGAGAGCGGCACTTGTG	0.741																																						ENST00000332826.6																			0				central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|lung(5)|ovary(1)|prostate(4)|skin(4)	21						c.(1510-1512)cGc>cAc		anoctamin 9							15	17	16					11																	420840		2178	4257	6435	SO:0001583	missense	338440					chloride channel complex	chloride channel activity	g.chr11:420840C>T	U33271	CCDS31326.1	11p15.5	2014-04-09	2008-08-28	2008-08-28	ENSG00000185101	ENSG00000185101		"Ion channels / Chloride channels : Calcium activated : Anoctamins"	20679	protein-coding gene	gene with protein product			"tumor protein p53 inducible protein 5", "transmembrane protein 16J"	TP53I5, TMEM16J		9305847, 24692353	Standard	NM_001012302		Approved	PIG5	uc001lpi.2	A1A5B4	OTTHUMG00000165446	ENST00000332826.6:c.1511G>A	11.37:g.420840C>T	ENSP00000332788:p.Arg504His						p.R504H	NM_001012302.2	NP_001012302.2	A1A5B4	ANO9_HUMAN			18	1595	-			504					B3KUC4|B4E134|Q8TEN4	Missense_Mutation	SNP	ENST00000332826.6	37	c.1511G>A	CCDS31326.1	.	.	.	.	.	.	.	.	.	.	C	11.87	1.767891	0.31320	.	.	ENSG00000185101	ENST00000332826	T	0.67345	-0.26	3.24	1.17	0.20885	.	0.632498	0.13971	U	0.350189	T	0.56262	0.1973	L	0.57130	1.785	0.09310	N	1	B;B	0.26147	0.143;0.081	B;B	0.19148	0.017;0.024	T	0.50575	-0.8812	10	0.56958	D	0.05	.	5.2195	0.15362	0.1637:0.6452:0.0:0.191	.	205;504	A1A5B4-2;A1A5B4	.;ANO9_HUMAN	H	504	ENSP00000332788:R504H	ENSP00000332788:R504H	R	-	2	0	ANO9	410840	0.534000	0.26362	0.001000	0.08648	0.013000	0.08279	0.908000	0.28545	0.156000	0.19299	0.306000	0.20318	CGC		0.741	ANO9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384116.1	NM_001012302		4	5	0	0	0	1	0	4	5					T	420840	C	T	420840	3	4	435	1	0	0	0	0	1	0	0	0	704	768	27	1	861	1	ANO9	11	420840	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	14400	420840	134585676	4930	25855											
PTDSS2	81490	broad.mit.edu	37	chr11	489597	489597	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tcctcccctagttcctgttgGcagaactgaacacgttctac	8	12	7	14	1	1	2	0	1	1	1	4	2	4	2	4	1	3	4	4	1	4	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:489597G>A	ENST00000308020.5	+	10	1155	c.979G>A	c.(979-981)Gca>Aca	p.A327T		NM_030783.1	NP_110410.1	Q9BVG9	PTSS2_HUMAN	phosphatidylserine synthase 2	327					glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylserine biosynthetic process (GO:0006659)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	CDP-diacylglycerol-serine O-phosphatidyltransferase activity (GO:0003882)			autonomic_ganglia(1)|breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|skin(1)	9		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;2.76e-26)|Epithelial(43;2.56e-25)|OV - Ovarian serous cystadenocarcinoma(40;7.54e-20)|BRCA - Breast invasive adenocarcinoma(625;8.76e-05)|Lung(200;0.0407)|LUSC - Lung squamous cell carcinoma(625;0.0735)	Phosphatidylserine(DB00144)	GTTCCTGTTGGCAGAACTGAA	0.647																																						ENST00000308020.5																			0				autonomic_ganglia(1)|breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|skin(1)	9						c.(979-981)Gca>Aca		phosphatidylserine synthase 2	Phosphatidylserine(DB00144)						55	48	51					11																	489597		2196	4296	6492	SO:0001583	missense	81490					integral to membrane		g.chr11:489597G>A	BC001210	CCDS7696.1	11p15	2008-05-02			ENSG00000174915	ENSG00000174915			15463	protein-coding gene	gene with protein product		612793				14984733	Standard	NM_030783		Approved	PSS2	uc001lpj.3	Q9BVG9	OTTHUMG00000119087	ENST00000308020.5:c.979G>A	11.37:g.489597G>A	ENSP00000308258:p.Ala327Thr						p.A327T	NM_030783.1	NP_110410.1	Q9BVG9	PTSS2_HUMAN		all cancers(45;2.76e-26)|Epithelial(43;2.56e-25)|OV - Ovarian serous cystadenocarcinoma(40;7.54e-20)|BRCA - Breast invasive adenocarcinoma(625;8.76e-05)|Lung(200;0.0407)|LUSC - Lung squamous cell carcinoma(625;0.0735)	10	1155	+		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)	327						Missense_Mutation	SNP	ENST00000308020.5	37	c.979G>A	CCDS7696.1	.	.	.	.	.	.	.	.	.	.	G	14.87	2.664229	0.47572	.	.	ENSG00000174915	ENST00000308020	.	.	.	3.2	3.2	0.36748	.	0.000000	0.85682	D	0.000000	T	0.35770	0.0943	N	0.12831	0.26	0.80722	D	1	P	0.40731	0.728	B	0.42030	0.373	T	0.14811	-1.0459	9	0.16420	T	0.52	-7.8323	15.6881	0.77426	0.0:0.0:1.0:0.0	.	327	Q9BVG9	PTSS2_HUMAN	T	327	.	ENSP00000308258:A327T	A	+	1	0	PTDSS2	479597	1.000000	0.71417	0.999000	0.59377	0.204000	0.24138	9.276000	0.95745	2.114000	0.64651	0.561000	0.74099	GCA		0.647	PTDSS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239301.2			5	3	0	0	0	1	0	5	3					A	489597	G	A	489597	3	1	435	1	0	0	0	0	1	0	0	0	12737	1203	42	3	1017	3	PTDSS2	11	489597	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	68757	489597	134516919	4931	25856											
HRAS	3265	broad.mit.edu	37	chr11	534269	534269	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tggatcagctggatggtcagCgcactcttgcccacaccgcc	7	8	11	15	2	3	0	2	0	1	0	3	2	3	2	3	3	3	2	3	3	0	1	rs148380285		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:534269C>T	ENST00000451590.1	-	2	241	c.54G>A	c.(52-54)gcG>gcA	p.A18A	HRAS_ENST00000468682.2_5'UTR|HRAS_ENST00000417302.1_Silent_p.A18A|HRAS_ENST00000311189.7_Silent_p.A18A|HRAS_ENST00000397594.1_Silent_p.A18A|HRAS_ENST00000397596.2_Silent_p.A18A	NM_001130442.1|NM_005343.2	NP_001123914.1|NP_005334.1	P01112	RASH_HUMAN	Harvey rat sarcoma viral oncogene homolog	18					actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular senescence (GO:0090398)|chemotaxis (GO:0006935)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|intrinsic apoptotic signaling pathway (GO:0097193)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|mitotic cell cycle checkpoint (GO:0007093)|negative regulation of cell differentiation (GO:0045596)|negative regulation of cell proliferation (GO:0008285)|negative regulation of gene expression (GO:0010629)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of Rho GTPase activity (GO:0034259)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of JNK cascade (GO:0046330)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of miRNA metabolic process (GO:2000630)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rac protein signal transduction (GO:0035022)|positive regulation of ruffle assembly (GO:1900029)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of wound healing (GO:0090303)|protein heterooligomerization (GO:0051291)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|protein C-terminus binding (GO:0008022)			adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225)	901		all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GGATGGTCAGCGCACTCTTGC	0.647		6	Mis		"infrequent sarcomas, rare other types"	"rhadomyosarcoma, ganglioneuroblastoma, bladder"			Costello syndrome	HNSCC(11;0.0054)			c|||	1	0.000199681	0	0	5008	,	,		17226	0		0.001	False		,,,				2504	0					ENST00000417302.1		6	yes	Dom	yes	Costello syndrome	11	11p15.5	3265	Mis	v-Ha-ras Harvey rat sarcoma viral oncogene homolog			"E, L, M"		"rhadomyosarcoma, ganglioneuroblastoma, bladder"	"infrequent sarcomas, rare other types"		0				adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225)	901						c.(52-54)gcG>gcA		Harvey rat sarcoma viral oncogene homolog	Sulindac(DB00605)	C	,,	1,4403	2.1+/-5.4	0,1,2201	114	104	108		54,54,54	-1.8	1	11	dbSNP_134	108	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous	HRAS	NM_001130442.1,NM_005343.2,NM_176795.3	,,	0,1,6501	TT,TC,CC		0.0,0.0227,0.0077	,,	18/190,18/190,18/171	534269	1,13003	2202	4300	6502	SO:0001819	synonymous_variant	3265	Costello syndrome	Familial Cancer Database	incl.: Facio-Cutaneous-Skeletal syndrome	activation of MAPKK activity|axon guidance|blood coagulation|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of DNA replication|positive regulation of epithelial cell proliferation|Ras protein signal transduction|synaptic transmission	cytosol|Golgi membrane|plasma membrane	GTP binding|GTPase activity|protein C-terminus binding	g.chr11:534269C>T	AJ437024	CCDS7698.1, CCDS7699.1	11p15.5	2014-09-17	2013-07-08		ENSG00000174775	ENSG00000174775			5173	protein-coding gene	gene with protein product		190020	"v-Ha-ras Harvey rat sarcoma viral oncogene homolog"	HRAS1			Standard	NM_176795		Approved		uc010qvx.2	P01112	OTTHUMG00000131919	ENST00000451590.1:c.54G>A	11.37:g.534269C>T		HNSCC(11;0.0054)				HRAS_ENST00000451590.1_Silent_p.A18A|HRAS_ENST00000397596.2_Silent_p.A18A|HRAS_ENST00000468682.2_5'UTR|HRAS_ENST00000397594.1_Silent_p.A18A|HRAS_ENST00000311189.7_Silent_p.A18A	p.A18A	NM_176795.3	NP_789765.1	P01112	RASH_HUMAN		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)	2	241	-		all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)	18					B5BUA0|Q14080|Q6FHV9|Q9BR65|Q9UCE2	Silent	SNP	ENST00000451590.1	37	c.54G>A	CCDS7698.1																																																																																				0.647	HRAS-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259403.2	NM_176795		4	41	0	0	0	1	0	4	41					T	534269	C	T	534269	2	4	435	1	0	0	0	0	0	0	0	1	7348	755	27	1		1	HRAS	11	534269	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	44672	534269	134472247	4932	25857											
C11orf35	256329	broad.mit.edu	37	chr11	555841	555841	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccgggcccggcctcagggagCgggaagcggtcgatggacaa	8	3	18	12	5	1	0	1	0	0	0	2	4	1	3	3	6	2	0	3	6	2	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:555841C>T	ENST00000329451.3	-	12	1529	c.1467G>A	c.(1465-1467)ccG>ccA	p.P489P	RP11-496I9.1_ENST00000527620.1_RNA	NM_173573.2	NP_775844.2	Q8IXW0	LMTD2_HUMAN		489	Pro-rich.									NS(1)|breast(1)|central_nervous_system(1)|lung(4)|pancreas(1)	8		all_cancers(49;2.16e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;7.18e-28)|Epithelial(43;6.93e-27)|OV - Ovarian serous cystadenocarcinoma(40;6.97e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CCTCAGGGAGCGGGAAGCGGT	0.761																																						ENST00000329451.3																			0				NS(1)|breast(1)|central_nervous_system(1)|lung(4)|pancreas(1)	8						c.(1465-1467)ccG>ccA		chromosome 11 open reading frame 35							11	13	12					11																	555841		2055	4085	6140	SO:0001819	synonymous_variant	256329							g.chr11:555841C>T																												ENST00000329451.3:c.1467G>A	11.37:g.555841C>T							p.P489P	NM_173573.2	NP_775844.2	Q8IXW0	CK035_HUMAN		all cancers(45;7.18e-28)|Epithelial(43;6.93e-27)|OV - Ovarian serous cystadenocarcinoma(40;6.97e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)	12	1529	-		all_cancers(49;2.16e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)	489			Pro-rich.			Silent	SNP	ENST00000329451.3	37	c.1467G>A	CCDS7701.1																																																																																				0.761	C11orf35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254973.2			5	11	0	0	0	1	0	5	11					T	555841	C	T	555841	2	4	435	1	0	0	0	0	0	0	0	1	1638	755	27	1		1	C11orf35	11	555841	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	21572	555841	134450675	4933	25858											
PHRF1	57661	broad.mit.edu	37	chr11	581559	581559	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtggcccggagcccagggcCggatggacacccacaggtcg	7	4	16	14	3	0	0	0	0	0	0	1	3	0	3	4	6	1	0	4	6	0	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:581559C>T	ENST00000264555.5	+	2	175	c.47C>T	c.(46-48)cCg>cTg	p.P16L	PHRF1_ENST00000413872.2_Missense_Mutation_p.P16L|PHRF1_ENST00000416188.2_Missense_Mutation_p.P16L|PHRF1_ENST00000533464.1_Missense_Mutation_p.P16L	NM_020901.2	NP_065952.2	Q9P1Y6	PHRF1_HUMAN	PHD and ring finger domains 1	16					mRNA processing (GO:0006397)|transcription from RNA polymerase II promoter (GO:0006366)	membrane (GO:0016020)	RNA polymerase binding (GO:0070063)|zinc ion binding (GO:0008270)			breast(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|urinary_tract(2)	28						AGCCCAGGGCCGGATGGACAC	0.632																																						ENST00000264555.5																			0				breast(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|urinary_tract(2)	28						c.(46-48)cCg>cTg		PHD and ring finger domains 1							31	36	34					11																	581559		2001	4151	6152	SO:0001583	missense	57661						RNA polymerase binding|zinc ion binding	g.chr11:581559C>T	BC004950	CCDS44507.1, CCDS65987.1, CCDS65988.1, CCDS65989.1	11p15.5	2014-06-13			ENSG00000070047	ENSG00000070047		"RING-type (C3HC4) zinc fingers", "Zinc fingers, PHD-type"	24351	protein-coding gene	gene with protein product	"CTD binding SR like protein rA9", "protein phosphatase 1, regulatory subunit 125"	611780		RNF221			Standard	XM_005253027		Approved	KIAA1542, PPP1R125	uc010qwc.2	Q9P1Y6	OTTHUMG00000165141	ENST00000264555.5:c.47C>T	11.37:g.581559C>T	ENSP00000264555:p.Pro16Leu					PHRF1_ENST00000413872.2_Missense_Mutation_p.P16L|PHRF1_ENST00000533464.1_Missense_Mutation_p.P16L|PHRF1_ENST00000416188.2_Missense_Mutation_p.P16L	p.P16L	NM_020901.2	NP_065952.2	Q9P1Y6	PHRF1_HUMAN			2	175	+			16					A6H8W1|B7ZM64|B9EGP0|C9JS82|Q6PJP2|Q8IVY2|Q8N2Y7|Q9BSM2	Missense_Mutation	SNP	ENST00000264555.5	37	c.47C>T		.	.	.	.	.	.	.	.	.	.	C	16.00	2.999671	0.54147	.	.	ENSG00000070047	ENST00000264555;ENST00000413872;ENST00000416188;ENST00000533464	T;T;T;T	0.79454	-1.23;-1.21;-1.23;-1.27	4.56	2.65	0.31530	.	0.216999	0.23378	N	0.048822	T	0.66327	0.2778	L	0.27053	0.805	0.18873	N	0.999984	D;D;D;D	0.56287	0.957;0.975;0.975;0.957	B;P;P;B	0.47827	0.355;0.558;0.558;0.355	T	0.56619	-0.7949	10	0.34782	T	0.22	-14.6232	6.3816	0.21538	0.0:0.7154:0.185:0.0995	.	16;16;16;16	E9PJ24;F8WEF5;Q9P1Y6-3;Q9P1Y6	.;.;.;PHRF1_HUMAN	L	16	ENSP00000264555:P16L;ENSP00000388589:P16L;ENSP00000410626:P16L;ENSP00000431870:P16L	ENSP00000264555:P16L	P	+	2	0	PHRF1	571559	0.002000	0.14202	0.014000	0.15608	0.058000	0.15608	0.139000	0.16036	0.651000	0.30788	0.655000	0.94253	CCG		0.632	PHRF1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000382133.1	NM_020901		10	19	0	0	0	1	0	10	19					T	581559	C	T	581559	3	4	435	1	0	0	0	0	1	0	0	0	11861	652	23	2	49	2	PHRF1	11	581559	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	25718	581559	134424957	4934	25859											
PHRF1	57661	broad.mit.edu	37	chr11	597506	597506	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccgggcgatagccaggacacGgcagagtgagagagtgagag	12	3	18	8	3	0	4	0	2	0	3	0	8	0	5	2	3	1	1	2	3	1	1	rs201538268		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:597506G>A	ENST00000264555.5	+	8	958	c.830G>A	c.(829-831)cGg>cAg	p.R277Q	PHRF1_ENST00000413872.2_Missense_Mutation_p.R276Q|PHRF1_ENST00000416188.2_Missense_Mutation_p.R277Q|PHRF1_ENST00000533464.1_Missense_Mutation_p.R273Q	NM_020901.2	NP_065952.2	Q9P1Y6	PHRF1_HUMAN	PHD and ring finger domains 1	277	Arg-rich.				mRNA processing (GO:0006397)|transcription from RNA polymerase II promoter (GO:0006366)	membrane (GO:0016020)	RNA polymerase binding (GO:0070063)|zinc ion binding (GO:0008270)			breast(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|urinary_tract(2)	28						GCCAGGACACGGCAGAGTGAG	0.652																																						ENST00000264555.5																			0				breast(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|urinary_tract(2)	28						c.(829-831)cGg>cAg		PHD and ring finger domains 1							47	56	53					11																	597506		2084	4203	6287	SO:0001583	missense	57661						RNA polymerase binding|zinc ion binding	g.chr11:597506G>A	BC004950	CCDS44507.1, CCDS65987.1, CCDS65988.1, CCDS65989.1	11p15.5	2014-06-13			ENSG00000070047	ENSG00000070047		"RING-type (C3HC4) zinc fingers", "Zinc fingers, PHD-type"	24351	protein-coding gene	gene with protein product	"CTD binding SR like protein rA9", "protein phosphatase 1, regulatory subunit 125"	611780		RNF221			Standard	XM_005253027		Approved	KIAA1542, PPP1R125	uc010qwc.2	Q9P1Y6	OTTHUMG00000165141	ENST00000264555.5:c.830G>A	11.37:g.597506G>A	ENSP00000264555:p.Arg277Gln					PHRF1_ENST00000413872.2_Missense_Mutation_p.R276Q|PHRF1_ENST00000533464.1_Missense_Mutation_p.R273Q|PHRF1_ENST00000416188.2_Missense_Mutation_p.R277Q	p.R277Q	NM_020901.2	NP_065952.2	Q9P1Y6	PHRF1_HUMAN			8	958	+			277			Arg-rich.		A6H8W1|B7ZM64|B9EGP0|C9JS82|Q6PJP2|Q8IVY2|Q8N2Y7|Q9BSM2	Missense_Mutation	SNP	ENST00000264555.5	37	c.830G>A		.	.	.	.	.	.	.	.	.	.	G	17.81	3.481500	0.63849	.	.	ENSG00000070047	ENST00000264555;ENST00000413872;ENST00000416188;ENST00000533464	T;T;T;T	0.41400	1.0;1.0;1.0;1.0	4.23	4.23	0.50019	.	0.000000	0.37261	N	0.002180	T	0.51907	0.1702	L	0.47190	1.495	0.37728	D	0.925168	D;D;D;D	0.67145	0.992;0.996;0.996;0.992	P;P;P;P	0.57371	0.664;0.819;0.819;0.664	T	0.56195	-0.8019	10	0.37606	T	0.19	-24.1653	16.876	0.86052	0.0:0.0:1.0:0.0	.	273;276;277;277	E9PJ24;F8WEF5;Q9P1Y6-3;Q9P1Y6	.;.;.;PHRF1_HUMAN	Q	277;276;277;273	ENSP00000264555:R277Q;ENSP00000388589:R276Q;ENSP00000410626:R277Q;ENSP00000431870:R273Q	ENSP00000264555:R277Q	R	+	2	0	PHRF1	587506	1.000000	0.71417	0.883000	0.34634	0.375000	0.29983	6.235000	0.72332	2.217000	0.71921	0.556000	0.70494	CGG		0.652	PHRF1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000382133.1	NM_020901		7	9	0	0	0	1	0	7	9					A	597506	G	A	597506	3	1	435	1	0	0	0	0	1	0	0	0	11861	1116	39	2	856	2	PHRF1	11	597506	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	15947	597506	134409010	4935	25860											
CDHR5	53841	broad.mit.edu	37	chr11	617465	617465	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatccacgtccagggtgggCgcgttgagaacgaccacgtc	8	6	13	14	5	0	1	0	1	0	1	3	3	2	1	4	2	1	1	4	2	1	1	rs139083373		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:617465C>T	ENST00000358353.3	-	16	2746	c.2424G>A	c.(2422-2424)gcG>gcA	p.A808A	IRF7_ENST00000525445.1_5'Flank|IRF7_ENST00000348655.6_5'Flank|IRF7_ENST00000397566.1_5'Flank|IRF7_ENST00000397562.3_5'Flank|CDHR5_ENST00000397542.2_Silent_p.A808A|IRF7_ENST00000330243.5_5'Flank|IRF7_ENST00000397570.1_5'Flank|IRF7_ENST00000397574.2_5'Flank|CDHR5_ENST00000349570.7_Silent_p.A614A			Q9HBB8	CDHR5_HUMAN	cadherin-related family member 5	808					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(2)	23						CCAGGGTGGGCGCGTTGAGAA	0.701													C|||	1	0.000199681	0	0	5008	,	,		11929	0.001		0	False		,,,				2504	0					ENST00000358353.3																			0				NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(2)	23						c.(2422-2424)gcG>gcA		cadherin-related family member 5		C	,,	0,4402		0,0,2201	51	43	46		2406,2424,1842	-2.3	0	11	dbSNP_134	46	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous	CDHR5	NM_001171968.1,NM_021924.4,NM_031264.3	,,	0,1,6500	TT,TC,CC		0.0116,0.0,0.0077	,,	802/840,808/846,614/652	617465	1,13001	2201	4300	6501	SO:0001819	synonymous_variant	53841				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr11:617465C>T	AF258675	CCDS7707.1, CCDS7708.1	11p15.5	2011-07-01	2010-01-25	2010-01-25	ENSG00000099834	ENSG00000099834		"Cadherins / Cadherin-related"	7521	protein-coding gene	gene with protein product		606839	"mucin and cadherin-like", "mucin-like protocadherin"	MUCDHL, MUPCDH		11031102, 10801787	Standard	NM_021924		Approved	FLJ20219, MU-PCDH	uc001lqj.3	Q9HBB8	OTTHUMG00000132018	ENST00000358353.3:c.2424G>A	11.37:g.617465C>T						CDHR5_ENST00000397542.2_Silent_p.A808A|CDHR5_ENST00000349570.7_Silent_p.A614A	p.A808A			Q9HBB8	CDHR5_HUMAN			16	2746	-			808					C9J7X1|Q9H746|Q9HAU3|Q9HBB5|Q9HBB6|Q9HBB7|Q9NX86|Q9NXI9	Silent	SNP	ENST00000358353.3	37	c.2424G>A	CCDS7707.1																																																																																				0.701	CDHR5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255023.2	NM_021924		13	27	0	0	0	1	0	13	27					T	617465	C	T	617465	2	4	435	1	0	0	0	0	0	0	0	1	3122	755	27	1		1	CDHR5	11	617465	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	19959	617465	134389051	4936	25861											
DRD4	1815	broad.mit.edu	37	chr11	640482	640482	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgcctgctccgtgcccccgcGgctggtcagcgccgtcacct	2	8	12	19	5	2	0	2	0	0	0	3	0	3	0	6	2	4	2	6	2	0	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:640482G>A	ENST00000176183.5	+	4	1151	c.1139G>A	c.(1138-1140)cGg>cAg	p.R380Q		NM_000797.3	NP_000788.2	P21917	DRD4_HUMAN	dopamine receptor D4	428					activation of MAPK activity (GO:0000187)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|adult locomotory behavior (GO:0008344)|arachidonic acid secretion (GO:0050482)|behavioral fear response (GO:0001662)|behavioral response to cocaine (GO:0048148)|behavioral response to ethanol (GO:0048149)|cellular calcium ion homeostasis (GO:0006874)|circadian rhythm (GO:0007623)|dopamine metabolic process (GO:0042417)|dopamine receptor signaling pathway (GO:0007212)|fear response (GO:0042596)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of cAMP biosynthetic process (GO:0030818)|negative regulation of protein secretion (GO:0050709)|negative regulation of voltage-gated calcium channel activity (GO:1901386)|olfactory learning (GO:0008355)|photoperiodism (GO:0009648)|positive regulation of dopamine uptake involved in synaptic transmission (GO:0051586)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of kinase activity (GO:0033674)|positive regulation of penile erection (GO:0060406)|positive regulation of sodium:proton antiporter activity (GO:0032417)|regulation of calcium-mediated signaling (GO:0050848)|regulation of circadian rhythm (GO:0042752)|regulation of dopamine metabolic process (GO:0042053)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of neurotransmitter secretion (GO:0046928)|response to amphetamine (GO:0001975)|response to histamine (GO:0034776)|response to steroid hormone (GO:0048545)|retina development in camera-type eye (GO:0060041)|short-term memory (GO:0007614)|social behavior (GO:0035176)|synaptic transmission, dopaminergic (GO:0001963)	cell cortex (GO:0005938)|dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|terminal bouton (GO:0043195)|vesicle membrane (GO:0012506)	dopamine binding (GO:0035240)|dopamine neurotransmitter receptor activity (GO:0004952)|dopamine neurotransmitter receptor activity, coupled via Gi/Go (GO:0001591)|drug binding (GO:0008144)|identical protein binding (GO:0042802)|potassium channel regulator activity (GO:0015459)|SH3 domain binding (GO:0017124)			NS(1)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	4		all_cancers(49;1.69e-08)|all_epithelial(84;1.65e-05)|Breast(177;0.000231)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)		all cancers(45;4.36e-28)|Epithelial(43;2.59e-27)|OV - Ovarian serous cystadenocarcinoma(40;3.53e-21)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0234)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Amoxapine(DB00543)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Clozapine(DB00363)|Dopamine(DB00988)|Iloperidone(DB04946)|L-DOPA(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Methotrimeprazine(DB01403)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Pramipexole(DB00413)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Remoxipride(DB00409)|Risperidone(DB00734)|Ropinirole(DB00268)|Rotigotine(DB05271)|Ziprasidone(DB00246)	GTGCCCCCGCGGCTGGTCAGC	0.672																																						ENST00000176183.5																			0				NS(1)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	4						c.(1138-1140)cGg>cAg		dopamine receptor D4	Apomorphine(DB00714)|Clozapine(DB00363)|Olanzapine(DB00334)|Pramipexole(DB00413)|Promazine(DB00420)|Propiomazine(DB00777)|Ropinirole(DB00268)|Thiethylperazine(DB00372)|Ziprasidone(DB00246)						73	62	66					11																	640482		2200	4297	6497	SO:0001583	missense	1815				activation of MAPK activity|adult locomotory behavior|arachidonic acid secretion|behavioral fear response|behavioral response to cocaine|behavioral response to ethanol|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of cAMP biosynthetic process|negative regulation of protein secretion|positive regulation of sodium:hydrogen antiporter activity|regulation of dopamine metabolic process|regulation of inhibitory postsynaptic membrane potential|response to amphetamine|response to histamine|social behavior	integral to plasma membrane	dopamine D4 receptor activity|drug binding|potassium channel regulator activity|SH3 domain binding	g.chr11:640482G>A	L12398	CCDS7710.1	11p15.5	2012-08-08			ENSG00000069696	ENSG00000069696		"GPCR / Class A : Dopamine receptors"	3025	protein-coding gene	gene with protein product		126452					Standard	NM_000797		Approved		uc001lqp.2	P21917	OTTHUMG00000133312	ENST00000176183.5:c.1139G>A	11.37:g.640482G>A	ENSP00000176183:p.Arg380Gln						p.R380Q	NM_000797.3	NP_000788.2	P21917	DRD4_HUMAN		all cancers(45;4.36e-28)|Epithelial(43;2.59e-27)|OV - Ovarian serous cystadenocarcinoma(40;3.53e-21)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0234)|LUSC - Lung squamous cell carcinoma(625;0.0703)	4	1151	+		all_cancers(49;1.69e-08)|all_epithelial(84;1.65e-05)|Breast(177;0.000231)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)	428					B0M0J7|Q7Z7Q5|Q8NGM5	Missense_Mutation	SNP	ENST00000176183.5	37	c.1139G>A	CCDS7710.1	.	.	.	.	.	.	.	.	.	.	g	15.71	2.913449	0.52439	.	.	ENSG00000069696	ENST00000176183	T	0.36699	1.24	3.0	3.0	0.34707	GPCR, rhodopsin-like superfamily (1);	0.611626	0.15807	N	0.243664	T	0.16854	0.0405	.	.	.	0.25151	N	0.990429	P	0.35923	0.528	B	0.33960	0.173	T	0.09058	-1.0692	9	0.13108	T	0.6	.	5.0094	0.14304	0.2617:0.0:0.7383:0.0	.	428	P21917	DRD4_HUMAN	Q	380	ENSP00000176183:R380Q	ENSP00000176183:R380Q	R	+	2	0	DRD4	630482	0.123000	0.22298	0.968000	0.41197	0.863000	0.49368	2.795000	0.47861	1.704000	0.51252	0.450000	0.29827	CGG		0.672	DRD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257109.1	NM_000797		19	27	0	0	0	1	0	19	27					A	640482	G	A	640482	3	1	435	1	0	0	0	0	1	0	0	0	4759	1116	39	2	1153	2	DRD4	11	640482	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	23017	640482	134366034	4937	25862											
DEAF1	10522	broad.mit.edu	37	chr11	686974	686974	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	actgtaccagttctccccctGcttgatgcaccgtccccggc	5	10	8	18	2	1	1	0	1	1	0	3	1	2	1	6	1	3	4	6	1	1	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:686974G>A	ENST00000382409.3	-	5	1172	c.688C>T	c.(688-690)Cag>Tag	p.Q230*	DEAF1_ENST00000338675.6_Intron	NM_021008.2	NP_066288.2	O75398	DEAF1_HUMAN	DEAF1 transcription factor	230	SAND. {ECO:0000255|PROSITE- ProRule:PRU00185}.				anatomical structure morphogenesis (GO:0009653)|embryonic skeletal system development (GO:0048706)|germ cell development (GO:0007281)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of mammary gland epithelial cell proliferation (GO:0033599)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)	24		all_cancers(49;1.24e-08)|all_epithelial(84;1.87e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)		all cancers(45;1.76e-27)|Epithelial(43;8.42e-27)|OV - Ovarian serous cystadenocarcinoma(40;6.55e-21)|BRCA - Breast invasive adenocarcinoma(625;4.83e-05)|Lung(200;0.0259)|LUSC - Lung squamous cell carcinoma(625;0.075)		TTCTCCCCCTGCTTGATGCAC	0.612																																						ENST00000382409.3																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)	24						c.(688-690)Cag>Tag		DEAF1 transcription factor							170	121	138					11																	686974		2203	4300	6503	SO:0001587	stop_gained	10522				embryonic skeletal system development|germ cell development|neural tube closure|regulation of mammary gland epithelial cell proliferation|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|extracellular region|nucleus	protein binding|zinc ion binding	g.chr11:686974G>A	AF049460	CCDS31327.1	11p15.5	2013-01-10	2013-01-10		ENSG00000177030	ENSG00000177030		"Zinc fingers, MYND-type"	14677	protein-coding gene	gene with protein product		602635	"deformed epidermal autoregulatory factor 1 (Drosophila)"			9773984	Standard	XR_428838		Approved	NUDR, SPN, ZMYND5	uc001lqq.1	O75398	OTTHUMG00000165363	ENST00000382409.3:c.688C>T	11.37:g.686974G>A	ENSP00000371846:p.Gln230*					DEAF1_ENST00000338675.6_Intron	p.Q230*	NM_021008.2	NP_066288.2	O75398	DEAF1_HUMAN		all cancers(45;1.76e-27)|Epithelial(43;8.42e-27)|OV - Ovarian serous cystadenocarcinoma(40;6.55e-21)|BRCA - Breast invasive adenocarcinoma(625;4.83e-05)|Lung(200;0.0259)|LUSC - Lung squamous cell carcinoma(625;0.075)	5	1172	-		all_cancers(49;1.24e-08)|all_epithelial(84;1.87e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)	230			SAND.		A8K1F8|A8K5R8|C7T5V5|O15152|O75399|O75510|O75511|O75512|O75513|Q9UET1	Nonsense_Mutation	SNP	ENST00000382409.3	37	c.688C>T	CCDS31327.1	.	.	.	.	.	.	.	.	.	.	G	37	6.440790	0.97568	.	.	ENSG00000177030	ENST00000382409;ENST00000359958;ENST00000388804	.	.	.	5.07	5.07	0.68467	.	0.296515	0.33854	N	0.004487	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.29301	T	0.29	-10.7997	17.5987	0.88020	0.0:0.0:1.0:0.0	.	.	.	.	X	230;216;153	.	ENSP00000353043:Q216X	Q	-	1	0	DEAF1	676974	1.000000	0.71417	1.000000	0.80357	0.235000	0.25334	9.507000	0.97996	2.507000	0.84556	0.655000	0.94253	CAG		0.612	DEAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383614.3	NM_021008		12	14	0	0	0	1	0	12	14					A	686974	G	A	686974	4	1	435	1	0	0	0	0	0	1	0	0	4380	1328	46	3	1041	3	DEAF1	11	686974	Nonsense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	46492	686974	134319542	4938	25863											
PDDC1	347862	broad.mit.edu	37	chr11	771069	771069	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctggcctgtgaccaggtggcGgtccagcacgacgtggacag	7	6	16	12	3	0	1	0	1	0	0	1	3	1	2	3	5	1	1	3	5	0	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:771069G>A	ENST00000319863.8	-	7	601	c.580C>T	c.(580-582)Cgc>Tgc	p.R194C	PDDC1_ENST00000442059.2_Missense_Mutation_p.R144C|PDDC1_ENST00000397472.2_Intron|PDDC1_ENST00000524550.1_Missense_Mutation_p.R158C|PDDC1_ENST00000526325.1_Intron|PDDC1_ENST00000529966.1_5'UTR	NM_182612.2	NP_872418.1	Q8NB37	PDDC1_HUMAN	Parkinson disease 7 domain containing 1	194						extracellular vesicular exosome (GO:0070062)				kidney(1)|lung(3)|urinary_tract(1)	5		all_cancers(49;1.13e-08)|all_epithelial(84;2.95e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.159)|all_lung(207;0.198)		all cancers(45;3.66e-26)|Epithelial(43;2.43e-25)|OV - Ovarian serous cystadenocarcinoma(40;1.33e-19)|BRCA - Breast invasive adenocarcinoma(625;4.29e-05)|Lung(200;0.0582)|LUSC - Lung squamous cell carcinoma(625;0.0703)		ACCAGGTGGCGGTCCAGCACG	0.652																																						ENST00000319863.8																			0				kidney(1)|lung(3)|urinary_tract(1)	5						c.(580-582)Cgc>Tgc		Parkinson disease 7 domain containing 1							47	46	46					11																	771069		2198	4300	6498	SO:0001583	missense	347862					extracellular region		g.chr11:771069G>A	AK128653	CCDS7713.1	11p15.5	2005-10-26			ENSG00000177225	ENSG00000177225			26616	protein-coding gene	gene with protein product							Standard	XM_005252898		Approved	FLJ34283	uc001lrc.3	Q8NB37	OTTHUMG00000133315	ENST00000319863.8:c.580C>T	11.37:g.771069G>A	ENSP00000321691:p.Arg194Cys					PDDC1_ENST00000529966.1_5'UTR|PDDC1_ENST00000524550.1_Missense_Mutation_p.R158C|PDDC1_ENST00000397472.2_Intron|PDDC1_ENST00000442059.2_Missense_Mutation_p.R144C|PDDC1_ENST00000526325.1_Intron	p.R194C	NM_182612.2	NP_872418.1	Q8NB37	PDDC1_HUMAN		all cancers(45;3.66e-26)|Epithelial(43;2.43e-25)|OV - Ovarian serous cystadenocarcinoma(40;1.33e-19)|BRCA - Breast invasive adenocarcinoma(625;4.29e-05)|Lung(200;0.0582)|LUSC - Lung squamous cell carcinoma(625;0.0703)	7	601	-		all_cancers(49;1.13e-08)|all_epithelial(84;2.95e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.159)|all_lung(207;0.198)	194					B7ZKW5|Q2NL76|Q6ZQY0|Q8NAE0	Missense_Mutation	SNP	ENST00000319863.8	37	c.580C>T	CCDS7713.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.85|17.85	3.491410|3.491410	0.64074|0.64074	.|.	.|.	ENSG00000177225|ENSG00000177225	ENST00000465313|ENST00000319863;ENST00000442059;ENST00000524550	.|.	.|.	.|.	4.55|4.55	4.55|4.55	0.56014|0.56014	.|ThiJ/PfpI (1);	.|.	.|.	.|.	.|.	T|T	0.79046|0.79046	0.4380|0.4380	M|M	0.85041|0.85041	2.73|2.73	0.53688|0.53688	D|D	0.999977|0.999977	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.91635	.|0.999;0.999	T|T	0.81733|0.81733	-0.0798|-0.0798	5|8	.|0.72032	.|D	.|0.01	.|.	10.4853|10.4853	0.44717|0.44717	0.0:0.0:0.6864:0.3136|0.0:0.0:0.6864:0.3136	.|.	.|158;194	.|B7ZKW3;Q8NB37	.|.;PDDC1_HUMAN	L|C	44|194;144;158	.|.	.|ENSP00000321691:R194C	P|R	-|-	2|1	0|0	PDDC1|PDDC1	761069|761069	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.714000|0.714000	0.41099|0.41099	2.295000|2.295000	0.43576|0.43576	2.250000|2.250000	0.74265|0.74265	0.462000|0.462000	0.41574|0.41574	CCG|CGC		0.652	PDDC1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258051.2	NM_182612		8	3	0	0	0	1	0	8	3					A	771069	G	A	771069	3	1	435	1	0	0	0	0	1	0	0	0	11629	1116	39	2	90	2	PDDC1	11	771069	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	84095	771069	134235447	4939	25864											
PDDC1	347862	broad.mit.edu	37	chr11	771350	771350	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	caccactgaagcaggcgcccGaatccttcacgaagtcctcc	10	6	8	17	3	1	1	1	1	0	0	4	3	4	1	5	1	1	1	5	1	3	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:771350G>A	ENST00000319863.8	-	6	548	c.527C>T	c.(526-528)tCg>tTg	p.S176L	PDDC1_ENST00000442059.2_Missense_Mutation_p.S126L|PDDC1_ENST00000397472.2_Missense_Mutation_p.S176L|PDDC1_ENST00000524550.1_Missense_Mutation_p.S140L|PDDC1_ENST00000526325.1_3'UTR|PDDC1_ENST00000529966.1_5'UTR	NM_182612.2	NP_872418.1	Q8NB37	PDDC1_HUMAN	Parkinson disease 7 domain containing 1	176						extracellular vesicular exosome (GO:0070062)				kidney(1)|lung(3)|urinary_tract(1)	5		all_cancers(49;1.13e-08)|all_epithelial(84;2.95e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.159)|all_lung(207;0.198)		all cancers(45;3.66e-26)|Epithelial(43;2.43e-25)|OV - Ovarian serous cystadenocarcinoma(40;1.33e-19)|BRCA - Breast invasive adenocarcinoma(625;4.29e-05)|Lung(200;0.0582)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GCAGGCGCCCGAATCCTTCAC	0.697																																						ENST00000319863.8																			0				kidney(1)|lung(3)|urinary_tract(1)	5						c.(526-528)tCg>tTg		Parkinson disease 7 domain containing 1							19	22	21					11																	771350		2194	4296	6490	SO:0001583	missense	347862					extracellular region		g.chr11:771350G>A	AK128653	CCDS7713.1	11p15.5	2005-10-26			ENSG00000177225	ENSG00000177225			26616	protein-coding gene	gene with protein product							Standard	XM_005252898		Approved	FLJ34283	uc001lrc.3	Q8NB37	OTTHUMG00000133315	ENST00000319863.8:c.527C>T	11.37:g.771350G>A	ENSP00000321691:p.Ser176Leu					PDDC1_ENST00000529966.1_5'UTR|PDDC1_ENST00000524550.1_Missense_Mutation_p.S140L|PDDC1_ENST00000397472.2_Missense_Mutation_p.S176L|PDDC1_ENST00000442059.2_Missense_Mutation_p.S126L|PDDC1_ENST00000526325.1_3'UTR	p.S176L	NM_182612.2	NP_872418.1	Q8NB37	PDDC1_HUMAN		all cancers(45;3.66e-26)|Epithelial(43;2.43e-25)|OV - Ovarian serous cystadenocarcinoma(40;1.33e-19)|BRCA - Breast invasive adenocarcinoma(625;4.29e-05)|Lung(200;0.0582)|LUSC - Lung squamous cell carcinoma(625;0.0703)	6	548	-		all_cancers(49;1.13e-08)|all_epithelial(84;2.95e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.159)|all_lung(207;0.198)	176					B7ZKW5|Q2NL76|Q6ZQY0|Q8NAE0	Missense_Mutation	SNP	ENST00000319863.8	37	c.527C>T	CCDS7713.1	.	.	.	.	.	.	.	.	.	.	G	9.723	1.160160	0.21454	.	.	ENSG00000177225	ENST00000528309;ENST00000397472;ENST00000319863;ENST00000526650;ENST00000442059;ENST00000524550	T;T	0.80304	-1.36;-1.36	4.44	4.44	0.53790	ThiJ/PfpI (1);	0.790513	0.11726	N	0.535385	T	0.61652	0.2364	N	0.12887	0.27	0.20307	N	0.999911	P;B;P;B	0.46327	0.579;0.008;0.876;0.008	B;B;B;B	0.29598	0.104;0.008;0.09;0.008	T	0.53535	-0.8425	10	0.27785	T	0.31	-6.9201	16.198	0.82043	0.0:0.0:1.0:0.0	.	140;126;176;176	B7ZKW3;B7Z1J9;Q8NB37-2;Q8NB37	.;.;.;PDDC1_HUMAN	L	114;176;176;100;126;140	ENSP00000321691:S176L;ENSP00000397890:S126L	ENSP00000321691:S176L	S	-	2	0	PDDC1	761350	0.985000	0.35326	0.637000	0.29366	0.188000	0.23474	2.985000	0.49362	2.193000	0.70182	0.462000	0.41574	TCG		0.697	PDDC1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258051.2	NM_182612		10	9	0	0	0	1	0	10	9					A	771350	G	A	771350	3	1	435	1	0	0	0	0	1	0	0	0	11629	1059	37	2	147	2	PDDC1	11	771350	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	281	771350	134235166	4940	25865											
LRDD	79751	broad.mit.edu	37	chr11	800378	800378	+	5'Flank	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cggtccagagtggtggtcacGtatacctccttcacattctt	7	13	9	12	2	3	1	2	0	1	1	5	1	5	1	3	3	1	1	3	3	2	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:800378G>A	ENST00000531214.1	-	0	0				PIDD_ENST00000347755.5_Silent_p.Y705Y|PIDD_ENST00000411829.2_Intron|PIDD_ENST00000534649.1_5'Flank	NM_001191060.1	NP_001177989.1	Q9H936	GHC1_HUMAN	solute carrier family 25 (mitochondrial carrier: glutamate), member 22						L-glutamate transport (GO:0015813)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	L-glutamate transmembrane transporter activity (GO:0005313)|symporter activity (GO:0015293)			endometrium(1)|kidney(1)|lung(2)|urinary_tract(1)	5		all_cancers(49;4.75e-06)|all_epithelial(84;0.00204)|Breast(177;0.00234)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;6.27e-26)|Epithelial(43;4.84e-25)|OV - Ovarian serous cystadenocarcinoma(40;2.72e-19)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		TGGTGGTCACGTATACCTCCT	0.642																																					Colon(93;848 1468 3270 23355 49636)	ENST00000347755.5																			0											c.(2113-2115)taC>taT		p53-induced death domain protein							66	62	64					11																	800378		2202	4299	6501	SO:0001631	upstream_gene_variant	55367				apoptosis|signal transduction	cytoplasm|nucleus	death receptor binding	g.chr11:800378G>A	AJ428202	CCDS7715.1	11p15.5	2013-05-22			ENSG00000177542	ENSG00000177542		"Solute carriers"	19954	protein-coding gene	gene with protein product		609302				11897791	Standard	NM_024698		Approved	GC1, FLJ13044, NET44, EIEE3	uc001lrj.3	Q9H936	OTTHUMG00000133310		11.37:g.800378G>A	Exception_encountered					PIDD_ENST00000411829.2_Intron	p.Y705Y	NM_145886.3|NM_145887.3	NP_665893.2|NP_665894.2	Q9HB75	PIDD_HUMAN			13	2256	-			705					A8K366|C9J1H6|E9PJD3|E9PKB2|E9PL68|E9PN26|E9PNQ3|E9PP01|E9PR97|Q8TBU8	Silent	SNP	ENST00000531214.1	37	c.2115C>T	CCDS7715.1																																																																																				0.642	SLC25A22-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384124.1			15	23	0	0	0	1	0	15	23					A	800378	G	A	800378	1	1	435	0	1	0	0	0	0	0	0	0	8936	1140	40	1		1	LRDD	11	800378	5'Flank	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	29028	800378	134206138	4941	25866											
CHID1	66005	broad.mit.edu	37	chr11	870159	870159	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gacgacgtgcctcccactgcGgctcctgcaagacaaaggga	10	5	12	14	3	0	1	0	0	0	1	2	4	2	2	3	2	3	2	3	2	2	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:870159G>A	ENST00000449825.1	-	12	1401	c.1045C>T	c.(1045-1047)Cgc>Tgc	p.R349C	CHID1_ENST00000454838.2_Missense_Mutation_p.R374C|CHID1_ENST00000528581.1_Missense_Mutation_p.R374C|CHID1_ENST00000429789.2_Missense_Mutation_p.R318C|CHID1_ENST00000436108.2_Missense_Mutation_p.R349C|CHID1_ENST00000526714.1_5'Flank|CHID1_ENST00000336845.5_Missense_Mutation_p.R374C|CHID1_ENST00000323541.7_Missense_Mutation_p.R379C|CHID1_ENST00000323578.8_Missense_Mutation_p.R349C	NM_001142675.1	NP_001136147.1	Q9BWS9	CHID1_HUMAN	chitinase domain containing 1	349					carbohydrate metabolic process (GO:0005975)|chitin catabolic process (GO:0006032)|innate immune response (GO:0045087)|negative regulation of cytokine production involved in inflammatory response (GO:1900016)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	chitinase activity (GO:0004568)|oligosaccharide binding (GO:0070492)			endometrium(4)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1)	13		all_cancers(49;9.46e-06)|Breast(177;0.00257)|all_epithelial(84;0.0027)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;5.48e-25)|Epithelial(43;3.75e-24)|BRCA - Breast invasive adenocarcinoma(625;4.65e-05)|Lung(200;0.0624)|LUSC - Lung squamous cell carcinoma(625;0.0735)		CTCCCACTGCGGCTCCTGCAA	0.662																																					Pancreas(117;992 2327 5172 41921)	ENST00000449825.1																			0				endometrium(4)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1)	13						c.(1045-1047)Cgc>Tgc		chitinase domain containing 1							110	100	103					11																	870159		2203	4299	6502	SO:0001583	missense	66005				chitin catabolic process|innate immune response	extracellular region|lysosome	cation binding|chitinase activity	g.chr11:870159G>A	AK124697	CCDS7722.1, CCDS44510.1, CCDS44511.1	11p15.5	2005-10-27			ENSG00000177830	ENSG00000177830			28474	protein-coding gene	gene with protein product		615692					Standard	NM_023947		Approved	MGC3234, FLJ42707	uc001lsm.3	Q9BWS9	OTTHUMG00000133314	ENST00000449825.1:c.1045C>T	11.37:g.870159G>A	ENSP00000391255:p.Arg349Cys					CHID1_ENST00000528581.1_Missense_Mutation_p.R374C|CHID1_ENST00000323578.8_Missense_Mutation_p.R349C|CHID1_ENST00000436108.2_Missense_Mutation_p.R349C|CHID1_ENST00000336845.5_Missense_Mutation_p.R374C|CHID1_ENST00000454838.2_Missense_Mutation_p.R374C|CHID1_ENST00000429789.2_Missense_Mutation_p.R318C|CHID1_ENST00000323541.7_Missense_Mutation_p.R379C	p.R349C	NM_001142675.1	NP_001136147.1	Q9BWS9	CHID1_HUMAN		all cancers(45;5.48e-25)|Epithelial(43;3.75e-24)|BRCA - Breast invasive adenocarcinoma(625;4.65e-05)|Lung(200;0.0624)|LUSC - Lung squamous cell carcinoma(625;0.0735)	12	1401	-		all_cancers(49;9.46e-06)|Breast(177;0.00257)|all_epithelial(84;0.0027)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)	349					B3KWB0|Q8NBM9|Q96CZ3|Q96S93|Q96SK0|Q9BY52	Missense_Mutation	SNP	ENST00000449825.1	37	c.1045C>T	CCDS7722.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.70|15.70	2.911433|2.911433	0.52439|0.52439	.|.	.|.	ENSG00000177830|ENSG00000177830	ENST00000529539|ENST00000323541;ENST00000449825;ENST00000454838;ENST00000323578;ENST00000429789;ENST00000528581;ENST00000336845;ENST00000436108	.|T;T;T;T;T;T;T;T	.|0.31769	.|1.48;1.49;1.9;1.49;1.51;1.9;1.9;1.49	3.46|3.46	2.43|2.43	0.29744|0.29744	.|Chitinase II (1);Glycoside hydrolase, family 18, catalytic domain (1);Glycoside hydrolase, superfamily (1);	.|0.326272	.|0.28908	.|N	.|0.013760	T|T	0.33731|0.33731	0.0873|0.0873	L|L	0.36672|0.36672	1.1|1.1	0.45477|0.45477	D|D	0.998448|0.998448	.|D;D;D;D;D	.|0.76494	.|0.994;0.994;0.999;0.992;0.982	.|P;P;P;P;P	.|0.57548	.|0.778;0.823;0.784;0.729;0.726	T|T	0.08391|0.08391	-1.0724|-1.0724	5|10	.|0.62326	.|D	.|0.03	-25.995|-25.995	7.3609|7.3609	0.26745|0.26745	0.0:0.0:0.7394:0.2606|0.0:0.0:0.7394:0.2606	.|.	.|410;379;318;374;349	.|B4DN31;B7Z705;Q9BWS9-3;Q9BWS9-2;Q9BWS9	.|.;.;.;.;CHID1_HUMAN	L|C	63|379;349;374;349;318;374;374;349	.|ENSP00000324821:R379C;ENSP00000391255:R349C;ENSP00000398722:R374C;ENSP00000325055:R349C;ENSP00000416034:R318C;ENSP00000435503:R374C;ENSP00000338838:R374C;ENSP00000388156:R349C	.|ENSP00000324821:R379C	P|R	-|-	2|1	0|0	CHID1|CHID1	860159|860159	1.000000|1.000000	0.71417|0.71417	0.985000|0.985000	0.45067|0.45067	0.415000|0.415000	0.31203|0.31203	3.049000|3.049000	0.49869|0.49869	1.935000|1.935000	0.56089|0.56089	0.462000|0.462000	0.41574|0.41574	CCG|CGC		0.662	CHID1-203	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257112.1	NM_023947		14	34	0	0	0	1	0	14	34					A	870159	G	A	870159	3	1	435	1	0	0	0	0	1	0	0	0	3345	1116	39	2	144	2	CHID1	11	870159	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	69781	870159	134136357	4942	25867											
CHID1	66005	broad.mit.edu	37	chr11	883189	883189	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgggcatccttggaggtcgcGtagtccataccatagaagtt	9	10	12	10	3	0	1	0	0	0	1	3	2	2	2	3	3	1	3	3	3	4	5	rs542846606		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:883189G>A	ENST00000449825.1	-	10	1274	c.918C>T	c.(916-918)taC>taT	p.Y306Y	CHID1_ENST00000454838.2_Silent_p.Y331Y|CHID1_ENST00000528581.1_Silent_p.Y331Y|CHID1_ENST00000429789.2_Silent_p.Y275Y|CHID1_ENST00000436108.2_Silent_p.Y306Y|CHID1_ENST00000526714.1_5'UTR|CHID1_ENST00000336845.5_Silent_p.Y331Y|CHID1_ENST00000323541.7_Silent_p.Y336Y|CHID1_ENST00000323578.8_Silent_p.Y306Y	NM_001142675.1	NP_001136147.1	Q9BWS9	CHID1_HUMAN	chitinase domain containing 1	306					carbohydrate metabolic process (GO:0005975)|chitin catabolic process (GO:0006032)|innate immune response (GO:0045087)|negative regulation of cytokine production involved in inflammatory response (GO:1900016)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	chitinase activity (GO:0004568)|oligosaccharide binding (GO:0070492)			endometrium(4)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1)	13		all_cancers(49;9.46e-06)|Breast(177;0.00257)|all_epithelial(84;0.0027)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;5.48e-25)|Epithelial(43;3.75e-24)|BRCA - Breast invasive adenocarcinoma(625;4.65e-05)|Lung(200;0.0624)|LUSC - Lung squamous cell carcinoma(625;0.0735)		TGGAGGTCGCGTAGTCCATAC	0.637													G|||	1	0.000199681	0	0	5008	,	,		18295	0.001		0	False		,,,				2504	0				Pancreas(117;992 2327 5172 41921)	ENST00000449825.1																			0				endometrium(4)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1)	13						c.(916-918)taC>taT		chitinase domain containing 1							121	111	114					11																	883189		2203	4299	6502	SO:0001819	synonymous_variant	66005				chitin catabolic process|innate immune response	extracellular region|lysosome	cation binding|chitinase activity	g.chr11:883189G>A	AK124697	CCDS7722.1, CCDS44510.1, CCDS44511.1	11p15.5	2005-10-27			ENSG00000177830	ENSG00000177830			28474	protein-coding gene	gene with protein product		615692					Standard	NM_023947		Approved	MGC3234, FLJ42707	uc001lsm.3	Q9BWS9	OTTHUMG00000133314	ENST00000449825.1:c.918C>T	11.37:g.883189G>A						CHID1_ENST00000528581.1_Silent_p.Y331Y|CHID1_ENST00000323578.8_Silent_p.Y306Y|CHID1_ENST00000436108.2_Silent_p.Y306Y|CHID1_ENST00000336845.5_Silent_p.Y331Y|CHID1_ENST00000454838.2_Silent_p.Y331Y|CHID1_ENST00000429789.2_Silent_p.Y275Y|CHID1_ENST00000526714.1_5'UTR|CHID1_ENST00000323541.7_Silent_p.Y336Y	p.Y306Y	NM_001142675.1	NP_001136147.1	Q9BWS9	CHID1_HUMAN		all cancers(45;5.48e-25)|Epithelial(43;3.75e-24)|BRCA - Breast invasive adenocarcinoma(625;4.65e-05)|Lung(200;0.0624)|LUSC - Lung squamous cell carcinoma(625;0.0735)	10	1274	-		all_cancers(49;9.46e-06)|Breast(177;0.00257)|all_epithelial(84;0.0027)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)	306					B3KWB0|Q8NBM9|Q96CZ3|Q96S93|Q96SK0|Q9BY52	Silent	SNP	ENST00000449825.1	37	c.918C>T	CCDS7722.1	.	.	.	.	.	.	.	.	.	.	G	4.382	0.070420	0.08436	.	.	ENSG00000177830	ENST00000529539	.	.	.	4.62	-2.69	0.06022	.	.	.	.	.	T	0.34571	0.0902	.	.	.	0.21627	N	0.999617	.	.	.	.	.	.	T	0.38735	-0.9647	4	.	.	.	-22.7653	11.3855	0.49782	0.6303:0.0:0.3697:0.0	.	.	.	.	C	21	.	.	R	-	1	0	CHID1	873189	0.001000	0.12720	0.035000	0.18076	0.019000	0.09904	-1.079000	0.03410	-0.412000	0.07519	-0.251000	0.11542	CGC		0.637	CHID1-203	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257112.1	NM_023947		36	71	0	0	0	1	0	36	71					A	883189	G	A	883189	2	1	435	1	0	0	0	0	0	0	0	1	3345	1140	40	1		1	CHID1	11	883189	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	13030	883189	134123327	4943	25868											
AP2A2	161	broad.mit.edu	37	chr11	988650	988650	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atcgtggccgagatgctgagCtatctggagacagctgacta	10	9	13	9	2	1	4	0	2	1	2	2	6	1	4	1	2	3	3	1	2	2	2	rs201537556	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:988650C>T	ENST00000448903.2	+	10	1371	c.1230C>T	c.(1228-1230)agC>agT	p.S410S	AP2A2_ENST00000534328.1_Intron|AP2A2_ENST00000332231.5_Silent_p.S411S	NM_001242837.1|NM_012305.3	NP_001229766.1|NP_036437.1	O94973	AP2A2_HUMAN	adaptor-related protein complex 2, alpha 2 subunit	410					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon guidance (GO:0007411)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|intracellular protein transport (GO:0006886)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of defense response to virus by virus (GO:0050690)|synaptic transmission (GO:0007268)|viral process (GO:0016032)	clathrin adaptor complex (GO:0030131)|clathrin-coated endocytic vesicle membrane (GO:0030669)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)|protein kinase binding (GO:0019901)|protein transporter activity (GO:0008565)			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(2)	21		all_cancers(49;9.46e-06)|Breast(177;0.00257)|all_epithelial(84;0.0027)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.75e-24)|BRCA - Breast invasive adenocarcinoma(625;5.73e-05)|Lung(200;0.0696)|LUSC - Lung squamous cell carcinoma(625;0.082)		AGATGCTGAGCTATCTGGAGA	0.612													c|||	3	0.000599042	0.0023	0	5008	,	,		19343	0		0	False		,,,				2504	0					ENST00000448903.2																			0				breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(2)	21						c.(1228-1230)agC>agT		adaptor-related protein complex 2, alpha 2 subunit							97	108	104					11																	988650		2161	4276	6437	SO:0001819	synonymous_variant	161				axon guidance|endocytosis|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|viral reproduction	AP-2 adaptor complex|cytosol	lipid binding|protein transporter activity	g.chr11:988650C>T	AB020706	CCDS44512.1, CCDS73234.1	11p15.5	2008-07-18			ENSG00000183020	ENSG00000183020			562	protein-coding gene	gene with protein product	"alpha-adaptin C; Huntingtin interacting protein J", "adaptin, alpha B", "clathrin-associated/assembly/adaptor protein, large, alpha 2"	607242		CLAPA2, ADTAB		9700202, 2564002	Standard	NM_012305		Approved	DKFZP564D1864, HYPJ, KIAA0899, HIP9	uc001lst.2	O94973	OTTHUMG00000165627	ENST00000448903.2:c.1230C>T	11.37:g.988650C>T						AP2A2_ENST00000332231.5_Silent_p.S411S|AP2A2_ENST00000534328.1_Intron	p.S410S	NM_001242837.1|NM_012305.3	NP_001229766.1|NP_036437.1	O94973	AP2A2_HUMAN		all cancers(45;1.75e-24)|BRCA - Breast invasive adenocarcinoma(625;5.73e-05)|Lung(200;0.0696)|LUSC - Lung squamous cell carcinoma(625;0.082)	10	1371	+		all_cancers(49;9.46e-06)|Breast(177;0.00257)|all_epithelial(84;0.0027)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)	410					O75403|Q53ET1|Q96SI8	Silent	SNP	ENST00000448903.2	37	c.1230C>T	CCDS44512.1																																																																																				0.612	AP2A2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000385431.2	NM_012305		5	63	0	0	0	1	0	5	63					T	988650	C	T	988650	2	4	435	1	0	0	0	0	0	0	0	1	740	796	28	3		3	AP2A2	11	988650	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	105461	988650	134017866	4944	25869											
MUC5B	727897	broad.mit.edu	37	chr11	1247968	1247968	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtgttctctgagcactgccGcgccgcctacgaggacttca	6	9	11	15	5	2	1	1	1	1	0	3	3	2	2	3	1	3	2	3	1	1	3	rs376119692		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:1247968G>A	ENST00000529681.1	+	4	381	c.323G>A	c.(322-324)cGc>cAc	p.R108H	MUC5B_ENST00000447027.1_Missense_Mutation_p.R108H	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	108	VWFD 1. {ECO:0000255|PROSITE- ProRule:PRU00580}.				cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		GAGCACTGCCGCGCCGCCTAC	0.632																																						ENST00000447027.1																			0				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137						c.(322-324)cGc>cAc		mucin 5B, oligomeric mucus/gel-forming		G	HIS/ARG	1,4277		0,1,2138	38	41	40		323	1.6	0.4	11		40	0,8502		0,0,4251	no	missense	MUC5B	NM_002458.2	29	0,1,6389	AA,AG,GG		0.0,0.0234,0.0078	benign	108/5763	1247968	1,12779	2139	4251	6390	SO:0001583	missense	727897				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	g.chr11:1247968G>A	U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"Mucins"	7516	protein-coding gene	gene with protein product		600770	"mucin 5, subtype B, tracheobronchial"	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.323G>A	11.37:g.1247968G>A	ENSP00000436812:p.Arg108His					MUC5B_ENST00000529681.1_Missense_Mutation_p.R108H	p.R108H			Q9HC84	MUC5B_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)	4	381	+		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	108			VWFD 1.		O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Missense_Mutation	SNP	ENST00000529681.1	37	c.323G>A	CCDS44515.2	.	.	.	.	.	.	.	.	.	.	G	7.397	0.631887	0.14322	2.34E-4	0.0	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637;ENST00000406844	T;T	0.59083	0.29;0.29	3.68	1.65	0.23941	von Willebrand factor, type D domain (3);	.	.	.	.	T	0.32255	0.0823	N	0.11131	0.1	0.09310	N	1	B;B;B	0.27732	0.011;0.187;0.187	B;B;B	0.22753	0.004;0.025;0.041	T	0.23297	-1.0192	9	0.87932	D	0	.	3.2351	0.06762	0.3274:0.2278:0.4448:0.0	.	108;764;108	Q9HC84;A7Y9J9;E9PBJ0	MUC5B_HUMAN;.;.	H	108;108;108;141	ENSP00000436812:R108H;ENSP00000415793:R108H	ENSP00000343037:R108H	R	+	2	0	MUC5B	1204544	0.002000	0.14202	0.396000	0.26296	0.266000	0.26442	0.806000	0.27126	0.720000	0.32209	0.561000	0.74099	CGC		0.632	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093		8	16	0	0	0	1	0	8	16					A	1247968	G	A	1247968	3	1	435	1	0	0	0	0	1	0	0	0	9979	1087	38	1	337	1	MUC5B	11	1247968	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	259318	1247968	133758548	4945	25870											
MUC5B	727897	broad.mit.edu	37	chr11	1250942	1250942	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acggtgctggatgacatcacGcactctggctgcctgcccct	6	9	11	15	2	2	1	1	1	1	0	2	2	2	2	3	3	3	3	3	3	0	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:1250942G>A	ENST00000529681.1	+	10	1183	c.1125G>A	c.(1123-1125)acG>acA	p.T375T	MUC5B_ENST00000447027.1_Silent_p.T378T|MUC5B_ENST00000531082.1_3'UTR	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	375	TIL 1.				cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		ATGACATCACGCACTCTGGCT	0.692																																						ENST00000447027.1																			0				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137						c.(1132-1134)acG>acA		mucin 5B, oligomeric mucus/gel-forming							15	18	17					11																	1250942		2119	4214	6333	SO:0001819	synonymous_variant	727897				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	g.chr11:1250942G>A	U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"Mucins"	7516	protein-coding gene	gene with protein product		600770	"mucin 5, subtype B, tracheobronchial"	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.1125G>A	11.37:g.1250942G>A						MUC5B_ENST00000529681.1_Silent_p.T375T|MUC5B_ENST00000531082.1_3'UTR	p.T378T			Q9HC84	MUC5B_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)	10	1192	+		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	375			TIL 1.		O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Silent	SNP	ENST00000529681.1	37	c.1134G>A	CCDS44515.2																																																																																				0.692	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093		3	7	0	0	0	1	0	3	7					A	1250942	G	A	1250942	2	1	435	1	0	0	0	0	0	0	0	1	9979	1074	38	1		1	MUC5B	11	1250942	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	2974	1250942	133755574	4946	25871											
MUC5B	727897	broad.mit.edu	37	chr11	1256370	1256370	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctctgcctgggcacctgcGtggcctacggggatggccac	4	7	16	14	2	1	0	0	0	1	0	1	1	1	1	4	6	3	2	4	6	1	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:1256370G>A	ENST00000529681.1	+	22	2744	c.2686G>A	c.(2686-2688)Gtg>Atg	p.V896M	MUC5B_ENST00000447027.1_Missense_Mutation_p.V899M	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	896	VWFC 1. {ECO:0000255|PROSITE- ProRule:PRU00220}.|VWFD 3. {ECO:0000255|PROSITE- ProRule:PRU00580}.				cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		GGGCACCTGCGTGGCCTACGG	0.652																																						ENST00000447027.1																			0				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137						c.(2695-2697)Gtg>Atg		mucin 5B, oligomeric mucus/gel-forming							53	61	58					11																	1256370		2110	4217	6327	SO:0001583	missense	727897				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	g.chr11:1256370G>A	U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"Mucins"	7516	protein-coding gene	gene with protein product		600770	"mucin 5, subtype B, tracheobronchial"	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.2686G>A	11.37:g.1256370G>A	ENSP00000436812:p.Val896Met					MUC5B_ENST00000529681.1_Missense_Mutation_p.V896M	p.V899M			Q9HC84	MUC5B_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)	22	2753	+		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	896			VWFC 1.|VWFD 3.		O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Missense_Mutation	SNP	ENST00000529681.1	37	c.2695G>A	CCDS44515.2	.	.	.	.	.	.	.	.	.	.	G	8.716	0.913177	0.17907	.	.	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637;ENST00000406844	T;T	0.61158	0.13;0.13	4.37	1.27	0.21489	von Willebrand factor, type C (1);von Willebrand factor, type D domain (3);	.	.	.	.	T	0.60689	0.2288	L	0.37697	1.125	0.09310	N	1	D;D;D	0.89917	0.998;1.0;1.0	P;D;D	0.68621	0.778;0.959;0.959	T	0.47328	-0.9126	9	0.87932	D	0	.	5.4748	0.16690	0.2349:0.0:0.6255:0.1397	.	896;1555;899	Q9HC84;A7Y9J9;E9PBJ0	MUC5B_HUMAN;.;.	M	896;899;897;932	ENSP00000436812:V896M;ENSP00000415793:V899M	ENSP00000343037:V897M	V	+	1	0	MUC5B	1212946	0.000000	0.05858	0.008000	0.14137	0.771000	0.43674	0.469000	0.22067	0.486000	0.27676	0.555000	0.69702	GTG		0.652	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093		14	16	0	0	0	1	0	14	16					A	1256370	G	A	1256370	3	1	435	1	0	0	0	0	1	0	0	0	9979	1145	40	1	2781	1	MUC5B	11	1256370	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	5428	1256370	133750146	4947	25872											
MUC5B	727897	broad.mit.edu	37	chr11	1268453	1268453	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cacccacacacccccagtgcCgaacaccacggccaccacac	12	1	5	23	2	0	0	0	0	0	0	0	1	0	0	7	1	2	0	7	1	1	0	rs370339341	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:1268453C>T	ENST00000529681.1	+	31	10401	c.10343C>T	c.(10342-10344)cCg>cTg	p.P3448L	MUC5B_ENST00000447027.1_Missense_Mutation_p.P3451L|RP11-532E4.2_ENST00000532061.2_RNA	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	3448	17 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.			Missing (in Ref. 6; AAB61398). {ECO:0000305}.	cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CCCCCAGTGCCGAACACCACG	0.692													-|||	3	0.000599042	8e-04	0	5008	,	,		20958	0.002		0	False		,,,				2504	0					ENST00000447027.1																			0				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137						c.(10351-10353)cCg>cTg		mucin 5B, oligomeric mucus/gel-forming		C	LEU/PRO	2,4212		0,2,2105	56	88	77		10343	-4.8	0	11		77	0,8428		0,0,4214	no	missense	MUC5B	NM_002458.2	98	0,2,6319	TT,TC,CC		0.0,0.0475,0.0158	benign	3448/5763	1268453	2,12640	2107	4214	6321	SO:0001583	missense	727897				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	g.chr11:1268453C>T	U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"Mucins"	7516	protein-coding gene	gene with protein product		600770	"mucin 5, subtype B, tracheobronchial"	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.10343C>T	11.37:g.1268453C>T	ENSP00000436812:p.Pro3448Leu					MUC5B_ENST00000529681.1_Missense_Mutation_p.P3448L|RP11-532E4.2_ENST00000532061.2_RNA	p.P3451L			Q9HC84	MUC5B_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)	31	10410	+		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	3448	Missing (in Ref. 6; AAB61398).		17 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.		O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Missense_Mutation	SNP	ENST00000529681.1	37	c.10352C>T	CCDS44515.2	.	.	.	.	.	.	.	.	.	.	C	5.937	0.356922	0.11239	4.75E-4	0.0	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637;ENST00000406844	T;T	0.22336	1.96;2.15	2.65	-4.75	0.03239	.	.	.	.	.	T	0.06234	0.0161	N	0.00801	-1.175	0.09310	N	1	B;B	0.09022	0.002;0.002	B;B	0.01281	0.0;0.0	T	0.41448	-0.9508	9	0.87932	D	0	.	9.7695	0.40580	0.0:0.7689:0.0:0.2311	.	3976;3451	A7Y9J9;E9PBJ0	.;.	L	3448;3451;3420;3353	ENSP00000436812:P3448L;ENSP00000415793:P3451L	ENSP00000343037:P3420L	P	+	2	0	MUC5B	1225029	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-2.305000	0.01133	-1.113000	0.02981	-0.786000	0.03341	CCG		0.692	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093		5	19	0	0	0	1	0	5	19					T	1268453	C	T	1268453	3	4	435	1	0	0	0	0	1	0	0	0	9979	652	23	2	10474	2	MUC5B	11	1268453	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	12083	1268453	133738063	4948	25873											
MUC5B	727897	broad.mit.edu	37	chr11	1271758	1271758	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccacggccaccatgtccacaGccacaccctcctccactcca	9	5	4	23	1	0	0	0	0	0	0	4	0	4	0	9	1	1	0	9	1	0	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:1271758G>A	ENST00000529681.1	+	31	13706	c.13648G>A	c.(13648-13650)Gcc>Acc	p.A4550T	MUC5B_ENST00000447027.1_Missense_Mutation_p.A4553T|RP11-532E4.2_ENST00000532061.2_RNA	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	4550	23 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich.				cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CATGTCCACAGCCACACCCTC	0.657																																						ENST00000447027.1																			0				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137						c.(13657-13659)Gcc>Acc		mucin 5B, oligomeric mucus/gel-forming							37	64	55					11																	1271758		1955	4078	6033	SO:0001583	missense	727897				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	g.chr11:1271758G>A	U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"Mucins"	7516	protein-coding gene	gene with protein product		600770	"mucin 5, subtype B, tracheobronchial"	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.13648G>A	11.37:g.1271758G>A	ENSP00000436812:p.Ala4550Thr					MUC5B_ENST00000529681.1_Missense_Mutation_p.A4550T	p.A4553T			Q9HC84	MUC5B_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)	31	13715	+		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	4550			23 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich.		O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Missense_Mutation	SNP	ENST00000529681.1	37	c.13657G>A	CCDS44515.2	.	.	.	.	.	.	.	.	.	.	-	7.939	0.742359	0.15642	.	.	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637;ENST00000406844;ENST00000535652	T;T	0.16743	2.32;2.51	2.12	-2.41	0.06562	.	.	.	.	.	T	0.12263	0.0298	L	0.28400	0.85	0.09310	N	1	B;B	0.11235	0.004;0.004	B;B	0.11329	0.006;0.006	T	0.31475	-0.9942	9	0.87932	D	0	.	10.0021	0.41935	0.198:0.0:0.802:0.0	.	5023;4553	A7Y9J9;E9PBJ0	.;.	T	4550;4553;4494;4400;327	ENSP00000436812:A4550T;ENSP00000415793:A4553T	ENSP00000343037:A4494T	A	+	1	0	MUC5B	1228334	0.000000	0.05858	0.000000	0.03702	0.105000	0.19272	-1.679000	0.01940	-0.535000	0.06307	0.184000	0.17185	GCC		0.657	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093		43	62	0	0	0	1	0	43	62					A	1271758	G	A	1271758	3	1	435	1	0	0	0	0	1	0	0	0	9979	971	34	3	13779	3	MUC5B	11	1271758	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	3305	1271758	133734758	4949	25874											
DUSP8	1850	broad.mit.edu	37	chr11	1579038	1579038	+	Silent	SNP	G	G	A																															tggtacctgtaggcgtcgtcGgaggacatgcccatggtctt																										TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:1579038G>A	ENST00000397374.3	-	6	934	c.807C>T	c.(805-807)tcC>tcT	p.S269S	DUSP8_ENST00000331588.4_Silent_p.S269S|DUSP8_ENST00000528778.1_5'UTR	NM_004420.2	NP_004411.2	Q13202	DUS8_HUMAN	dual specificity phosphatase 8	269	Tyrosine-protein phosphatase.				inactivation of MAPK activity (GO:0000188)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	MAP kinase tyrosine/serine/threonine phosphatase activity (GO:0017017)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			endometrium(1)|lung(2)|prostate(1)|urinary_tract(1)	5		all_epithelial(84;0.000134)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000621)|Lung(200;0.0687)|LUSC - Lung squamous cell carcinoma(625;0.0825)		AGGCGTCGTCGGAGGACATGC	0.622																																						ENST00000397374.3																			0				endometrium(1)|lung(2)|prostate(1)|urinary_tract(1)	5						c.(805-807)tcC>tcT		dual specificity phosphatase 8							130	116	121					11																	1579038		2202	4299	6501	SO:0001819	synonymous_variant	1850				inactivation of MAPK activity	cytoplasm|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity	g.chr11:1579038G>A		CCDS7724.1	11p15.5	2011-06-09			ENSG00000184545	ENSG00000184545		"Protein tyrosine phosphatases / Class I Cys-based PTPs : MAP kinase phosphatases"	3074	protein-coding gene	gene with protein product	"serine/threonine specific protein phosphatase", "H1 phosphatase, vaccinia virus homolog"	602038	"chromosome 11 open reading frame 81"	C11orf81		7561881, 9192849	Standard	NM_004420		Approved	HVH-5, HB5, FLJ42958	uc001lts.2	Q13202	OTTHUMG00000133348	ENST00000397374.3:c.807C>T	11.37:g.1579038G>A						DUSP8_ENST00000528778.1_5'UTR|DUSP8_ENST00000331588.4_Silent_p.S269S	p.S269S	NM_004420.2	NP_004411.2	Q13202	DUS8_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.000621)|Lung(200;0.0687)|LUSC - Lung squamous cell carcinoma(625;0.0825)	6	934	-		all_epithelial(84;0.000134)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	269			Tyrosine-protein phosphatase.		Q86SS8	Silent	SNP	ENST00000397374.3	37	c.807C>T	CCDS7724.1																																																																																				0.622	DUSP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257178.3	NM_004420		6	25	0	0	0	1	0	6	25					A	1579038	G	A	1579038	2	1	435	1	0	0	0	0	0	0	0	1	4831	1103	39	2		2	DUSP8	11	1579038	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	307280	1579038	133427478	4950	25875	122	2									
DUSP8	1850	broad.mit.edu	37	chr11	1579048	1579048	+	Missense_Mutation	SNP	C	C	T																															aggcgtcgtcggaggacatgCccatggtcttcatgatgtag																										TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:1579048C>T	ENST00000397374.3	-	6	924	c.797G>A	c.(796-798)gGc>gAc	p.G266D	DUSP8_ENST00000331588.4_Missense_Mutation_p.G266D|DUSP8_ENST00000528778.1_5'UTR	NM_004420.2	NP_004411.2	Q13202	DUS8_HUMAN	dual specificity phosphatase 8	266	Tyrosine-protein phosphatase.				inactivation of MAPK activity (GO:0000188)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	MAP kinase tyrosine/serine/threonine phosphatase activity (GO:0017017)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			endometrium(1)|lung(2)|prostate(1)|urinary_tract(1)	5		all_epithelial(84;0.000134)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000621)|Lung(200;0.0687)|LUSC - Lung squamous cell carcinoma(625;0.0825)		GGAGGACATGCCCATGGTCTT	0.607																																						ENST00000397374.3																			0				endometrium(1)|lung(2)|prostate(1)|urinary_tract(1)	5						c.(796-798)gGc>gAc		dual specificity phosphatase 8							137	122	127					11																	1579048		2202	4299	6501	SO:0001583	missense	1850				inactivation of MAPK activity	cytoplasm|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity	g.chr11:1579048C>T		CCDS7724.1	11p15.5	2011-06-09			ENSG00000184545	ENSG00000184545		"Protein tyrosine phosphatases / Class I Cys-based PTPs : MAP kinase phosphatases"	3074	protein-coding gene	gene with protein product	"serine/threonine specific protein phosphatase", "H1 phosphatase, vaccinia virus homolog"	602038	"chromosome 11 open reading frame 81"	C11orf81		7561881, 9192849	Standard	NM_004420		Approved	HVH-5, HB5, FLJ42958	uc001lts.2	Q13202	OTTHUMG00000133348	ENST00000397374.3:c.797G>A	11.37:g.1579048C>T	ENSP00000380530:p.Gly266Asp					DUSP8_ENST00000528778.1_5'UTR|DUSP8_ENST00000331588.4_Missense_Mutation_p.G266D	p.G266D	NM_004420.2	NP_004411.2	Q13202	DUS8_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.000621)|Lung(200;0.0687)|LUSC - Lung squamous cell carcinoma(625;0.0825)	6	924	-		all_epithelial(84;0.000134)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	266			Tyrosine-protein phosphatase.		Q86SS8	Missense_Mutation	SNP	ENST00000397374.3	37	c.797G>A	CCDS7724.1	.	.	.	.	.	.	.	.	.	.	C	6.366	0.435652	0.12104	.	.	ENSG00000184545	ENST00000397374;ENST00000331588	T;T	0.63913	-0.07;-0.07	3.42	2.49	0.30216	Dual specificity phosphatase, catalytic domain (1);Protein-tyrosine/Dual-specificity phosphatase (1);Dual specificity phosphatase, subgroup, catalytic domain (2);	0.000000	0.64402	U	0.000001	T	0.44350	0.1289	L	0.27053	0.805	0.58432	D	0.999999	B	0.27594	0.182	B	0.37091	0.241	T	0.25257	-1.0137	10	0.02654	T	1	.	7.4519	0.27244	0.0:0.7967:0.0:0.2033	.	266	Q13202	DUS8_HUMAN	D	266	ENSP00000380530:G266D;ENSP00000329539:G266D	ENSP00000329539:G266D	G	-	2	0	DUSP8	1535624	1.000000	0.71417	1.000000	0.80357	0.877000	0.50540	3.656000	0.54467	0.631000	0.30412	0.313000	0.20887	GGC		0.607	DUSP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257178.3	NM_004420		8	23	0	0	0	1	0	8	23					T	1579048	C	T	1579048	3	4	435	1	0	0	0	0	1	0	0	0	4831	739	26	3	1088	3	DUSP8	11	1579048	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	10	1579048	133427468	4951	25876	122	2									
KRTAP5-1	387264	broad.mit.edu	37	chr11	1606354	1606354	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagcagcagacgggcacacaGcagctggagccagaacctcc	12	2	12	15	1	0	2	0	0	0	2	1	3	1	3	3	2	6	5	3	2	1	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:1606354G>A	ENST00000382171.2	-	1	159	c.126C>T	c.(124-126)tgC>tgT	p.C42C	KRTAP5-AS1_ENST00000534077.1_RNA|KRTAP5-AS1_ENST00000524947.1_RNA|KRTAP5-AS1_ENST00000424148.1_RNA|KRTAP5-AS1_ENST00000532922.1_RNA	NM_001005922.1	NP_001005922.1	Q6L8H4	KRA51_HUMAN	keratin associated protein 5-1	42	8 X 4 AA repeats of C-C-X-P.					keratin filament (GO:0045095)				endometrium(3)|kidney(1)|lung(9)|skin(2)|upper_aerodigestive_tract(1)	16		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		CGGGCACACAGCAGCTGGAGC	0.682																																						ENST00000382171.2																			0				endometrium(3)|kidney(1)|lung(9)|skin(2)|upper_aerodigestive_tract(1)	16						c.(124-126)tgC>tgT		keratin associated protein 5-1							64	77	73					11																	1606354		2202	4298	6500	SO:0001819	synonymous_variant	387264					keratin filament		g.chr11:1606354G>A	AB126070	CCDS31330.1	11p15.5	2008-02-05			ENSG00000205869	ENSG00000205869		"Keratin associated proteins"	23596	protein-coding gene	gene with protein product		148022	"keratin, cuticle, ultrahigh sulphur 1-like"	KRN1L		15144888	Standard	NM_001005922		Approved	KRTAP5.1	uc001ltu.1	Q6L8H4	OTTHUMG00000057557	ENST00000382171.2:c.126C>T	11.37:g.1606354G>A						KRTAP5-AS1_ENST00000532922.1_RNA|KRTAP5-AS1_ENST00000534077.1_RNA|KRTAP5-AS1_ENST00000424148.1_RNA|KRTAP5-AS1_ENST00000524947.1_RNA	p.C42C	NM_001005922.1	NP_001005922.1	Q6L8H4	KRA51_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)	1	159	-		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	42			8 X 4 AA repeats of C-C-X-P.			Silent	SNP	ENST00000382171.2	37	c.126C>T	CCDS31330.1																																																																																				0.682	KRTAP5-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127922.1	NM_001005922		40	56	0	0	0	1	0	40	56					A	1606354	G	A	1606354	2	1	435	1	0	0	0	0	0	0	0	1	8558	963	34	3		3	KRTAP5-1	11	1606354	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	27306	1606354	133400162	4952	25877											
MRPL23	6150	broad.mit.edu	37	chr11	1973409	1973409	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agggcatctataacgtgcccGtggctgctgtgcggacacgg	7	8	15	11	4	1	0	0	0	1	0	1	1	1	1	1	4	4	3	1	4	2	2	rs368383014		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:1973409G>A	ENST00000397298.3	+	3	278	c.193G>A	c.(193-195)Gtg>Atg	p.V65M	MRPL23_ENST00000381514.3_Missense_Mutation_p.V65M|MRPL23_ENST00000381519.1_Missense_Mutation_p.V65M|MRPL23_ENST00000397297.3_Missense_Mutation_p.V65M|MRPL23_ENST00000397294.3_Missense_Mutation_p.V65M	NM_021134.3	NP_066957.3	Q16540	RM23_HUMAN	mitochondrial ribosomal protein L23	65					translation (GO:0006412)	mitochondrial large ribosomal subunit (GO:0005762)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			large_intestine(2)|lung(1)|ovary(1)	4		all_epithelial(84;6.24e-05)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.0026)|Lung(200;0.0171)|LUSC - Lung squamous cell carcinoma(625;0.0842)		TAACGTGCCCGTGGCTGCTGT	0.582																																						ENST00000381514.3																			0				large_intestine(2)|lung(1)|ovary(1)	4						c.(193-195)Gtg>Atg		mitochondrial ribosomal protein L23		G	MET/VAL	0,4402		0,0,2201	68	59	62		193	2.9	0.8	11		62	1,8597	1.2+/-3.3	0,1,4298	no	missense	MRPL23	NM_021134.3	21	0,1,6499	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	65/154	1973409	1,12999	2201	4299	6500	SO:0001583	missense	6150				translation	mitochondrial large ribosomal subunit	nucleotide binding|RNA binding|structural constituent of ribosome	g.chr11:1973409G>A	AB051340	CCDS31336.1	11p15.5	2012-09-13			ENSG00000214026	ENSG00000214026		"Mitochondrial ribosomal proteins / large subunits"	10322	protein-coding gene	gene with protein product		600789		RPL23L		8541832	Standard	NM_021134		Approved	L23MRP	uc001lux.3	Q16540	OTTHUMG00000012476	ENST00000397298.3:c.193G>A	11.37:g.1973409G>A	ENSP00000380466:p.Val65Met					MRPL23_ENST00000397294.3_Missense_Mutation_p.V65M|MRPL23_ENST00000397297.3_Missense_Mutation_p.V65M|MRPL23_ENST00000397298.3_Missense_Mutation_p.V65M|MRPL23_ENST00000381519.1_Missense_Mutation_p.V65M	p.V65M			Q16540	RM23_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.0026)|Lung(200;0.0171)|LUSC - Lung squamous cell carcinoma(625;0.0842)	3	215	+		all_epithelial(84;6.24e-05)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	65					A8MT29|Q96Q71	Missense_Mutation	SNP	ENST00000397298.3	37	c.193G>A	CCDS31336.1	.	.	.	.	.	.	.	.	.	.	G	14.09	2.432507	0.43224	0.0	1.16E-4	ENSG00000214026	ENST00000397298;ENST00000381519;ENST00000397297;ENST00000381514;ENST00000397294	T;T;T;T;T	0.59083	1.15;1.15;0.29;1.15;0.29	3.87	2.94	0.34122	Ribosomal protein L23/L15e (1);Nucleotide-binding, alpha-beta plait (1);	0.000000	0.64402	U	0.000001	T	0.81508	0.4837	H	0.95260	3.645	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.86264	0.1657	10	0.72032	D	0.01	.	13.0404	0.58895	0.0:0.0:0.8374:0.1626	.	65	Q16540	RM23_HUMAN	M	65	ENSP00000380466:V65M;ENSP00000370930:V65M;ENSP00000380465:V65M;ENSP00000370925:V65M;ENSP00000380462:V65M	ENSP00000370925:V65M	V	+	1	0	MRPL23	1929985	1.000000	0.71417	0.833000	0.33012	0.035000	0.12851	7.321000	0.79088	0.967000	0.38186	0.491000	0.48974	GTG		0.582	MRPL23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034765.2	NM_021134		9	14	0	0	0	1	0	9	14					A	1973409	G	A	1973409	3	1	435	1	0	0	0	0	1	0	0	0	9789	1145	40	1	203	1	MRPL23	11	1973409	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	367055	1973409	133033107	4953	25878											
INS	723961	broad.mit.edu	37	chr11	2182031	2182031	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaccctgcaggtcctctgcCtcccggcgggtcttgggtgt	2	11	13	15	2	3	0	1	0	2	0	5	0	5	0	4	4	2	1	4	4	0	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:2182031C>T	ENST00000397270.1	-	2	229	c.171G>A	c.(169-171)gaG>gaA	p.E57E	INS_ENST00000250971.3_Silent_p.E57E|INS_ENST00000512523.1_Silent_p.E57E|INS_ENST00000397262.1_Silent_p.E57E|INS_ENST00000381330.4_Silent_p.E57E|INS-IGF2_ENST00000481781.1_5'Flank	NM_001042376.2	NP_001035835.1	F8WCM5	INSR2_HUMAN	INS-IGF2 readthrough	57						extracellular region (GO:0005576)				haematopoietic_and_lymphoid_tissue(1)|lung(3)|prostate(1)	5		all_epithelial(84;0.00018)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)|all_lung(207;0.24)	Colorectal(5;0.00245)|COAD - Colon adenocarcinoma(6;0.0239)	BRCA - Breast invasive adenocarcinoma(625;0.00256)|LUSC - Lung squamous cell carcinoma(625;0.0832)|Lung(200;0.156)		GGTCCTCTGCCTCCCGGCGGG	0.657																																						ENST00000397270.1																			0				haematopoietic_and_lymphoid_tissue(1)|lung(3)|prostate(1)	5						c.(169-171)gaG>gaA									52	57	55					11																	2182031		2200	4296	6496	SO:0001819	synonymous_variant	0				glucose metabolic process	extracellular region	hormone activity	g.chr11:2182031C>T	DQ104205	CCDS41598.1	11p15.5	2011-03-23			ENSG00000129965	ENSG00000129965			33527	other	readthrough						16531418	Standard	NM_001042376		Approved		uc001lvm.3	F8WCM5	OTTHUMG00000166213	ENST00000397270.1:c.171G>A	11.37:g.2182031C>T						INS_ENST00000250971.3_Silent_p.E57E|INS_ENST00000381330.4_Silent_p.E57E|INS_ENST00000512523.1_Silent_p.E57E|INS_ENST00000397262.1_Silent_p.E57E	p.E57E	NM_001042376.2	NP_001035835.1	Q1WM24	Q1WM24_HUMAN	Colorectal(5;0.00245)|COAD - Colon adenocarcinoma(6;0.0239)	BRCA - Breast invasive adenocarcinoma(625;0.00256)|LUSC - Lung squamous cell carcinoma(625;0.0832)|Lung(200;0.156)	2	229	-		all_epithelial(84;0.00018)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)|all_lung(207;0.24)	57					Q1WM24	Silent	SNP	ENST00000397270.1	37	c.171G>A	CCDS41598.1																																																																																				0.657	INS-IGF2-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000388404.1	NM_001042376.2		20	26	0	0	0	1	0	20	26					T	2182031	C	T	2182031	2	4	435	1	0	0	0	0	0	0	0	1	7762	680	24	3		3	INS	11	2182031	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	208622	2182031	132824485	4954	25879											
TSPAN32	10077	broad.mit.edu	37	chr11	2324133	2324133	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacttcggggcccactttgcTgtcatccgccgagcgtccct	4	11	10	16	4	1	0	1	0	0	0	4	1	3	0	4	2	3	1	4	2	1	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:2324133T>C	ENST00000182290.4	+	2	263	c.126T>C	c.(124-126)gcT>gcC	p.A42A	TSPAN32_ENST00000381121.3_Silent_p.A42A|TSPAN32_ENST00000483227.1_3'UTR|C11orf21_ENST00000381153.3_5'Flank|C11orf21_ENST00000470369.1_5'Flank|TSPAN32_ENST00000451520.2_Silent_p.A31A	NM_139022.2	NP_620591.3	Q96QS1	TSN32_HUMAN	tetraspanin 32	42					cell-cell signaling (GO:0007267)|cytoskeleton organization (GO:0007010)|defense response to protozoan (GO:0042832)|integrin-mediated signaling pathway (GO:0007229)|negative regulation of cell proliferation (GO:0008285)|negative regulation of myeloid dendritic cell activation (GO:0030886)|platelet aggregation (GO:0070527)|regulation of defense response to virus (GO:0050688)	cell surface (GO:0009986)|integrin alphaIIb-beta3 complex (GO:0070442)|intracellular (GO:0005622)				breast(1)|central_nervous_system(1)|lung(4)|ovary(1)|skin(1)	8		all_epithelial(84;4.89e-05)|Breast(177;0.000962)|Medulloblastoma(188;0.00106)|Ovarian(85;0.0014)|all_neural(188;0.00791)|Lung NSC(207;0.209)		BRCA - Breast invasive adenocarcinoma(625;0.000533)|LUSC - Lung squamous cell carcinoma(625;0.082)|Lung(200;0.153)		CCCACTTTGCTGTCATCCGCC	0.632																																						ENST00000182290.4																			0				breast(1)|central_nervous_system(1)|lung(4)|ovary(1)|skin(1)	8						c.(124-126)gcT>gcC		tetraspanin 32							111	96	101					11																	2324133		2202	4299	6501	SO:0001819	synonymous_variant	10077				cell-cell signaling	integral to membrane		g.chr11:2324133T>C	AF176070	CCDS7733.1	11p15	2013-02-14	2005-08-16	2005-08-16	ENSG00000064201	ENSG00000064201		"Tetraspanins"	13410	protein-coding gene	gene with protein product		603853	"pan-hematopoietic expression"	TSSC6, PHEMX		10072438, 10950922	Standard	NM_139022		Approved		uc001lvy.1	Q96QS1	OTTHUMG00000009762	ENST00000182290.4:c.126T>C	11.37:g.2324133T>C						TSPAN32_ENST00000483227.1_3'UTR|TSPAN32_ENST00000451520.2_Silent_p.A31A|TSPAN32_ENST00000381121.3_Silent_p.A42A	p.A42A	NM_139022.2	NP_620591.3	Q96QS1	TSN32_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.000533)|LUSC - Lung squamous cell carcinoma(625;0.082)|Lung(200;0.153)	2	263	+		all_epithelial(84;4.89e-05)|Breast(177;0.000962)|Medulloblastoma(188;0.00106)|Ovarian(85;0.0014)|all_neural(188;0.00791)|Lung NSC(207;0.209)	42					Q96KX4|Q9HC50|Q9HC51|Q9Y5U1	Silent	SNP	ENST00000182290.4	37	c.126T>C	CCDS7733.1																																																																																				0.632	TSPAN32-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000026912.2	NM_139024		11	20	0	0	0	1	0	11	20					C	2324133	T	C	2324133	2	2	435	1	0	0	0	0	0	0	0	1	16644	1567	55	4		4	TSPAN32	11	2324133	Silent	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	142102	2324133	132682383	4955	25880											
TRPM5	29850	broad.mit.edu	37	chr11	2428502	2428502	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gaacttccagaacatgtctgCgttgccctgcaccacctgga	9	9	9	14	1	1	1	0	0	1	1	2	3	2	2	4	1	5	2	4	1	2	2	rs529067735		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:2428502C>T	ENST00000155858.6	-	20	2973	c.2965G>A	c.(2965-2967)Gca>Aca	p.A989T	AC124057.5_ENST00000433035.1_RNA|TRPM5_ENST00000452833.1_Missense_Mutation_p.A991T|TRPM5_ENST00000533060.1_Missense_Mutation_p.A989T|TRPM5_ENST00000528453.1_Missense_Mutation_p.A989T	NM_014555.3	NP_055370.1			transient receptor potential cation channel, subfamily M, member 5											breast(1)|central_nervous_system(1)|endometrium(4)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(2)|urinary_tract(2)	23		Medulloblastoma(188;0.0049)|Breast(177;0.00586)|all_epithelial(84;0.0075)|Ovarian(85;0.0256)|all_neural(188;0.0311)		BRCA - Breast invasive adenocarcinoma(625;0.00147)|LUSC - Lung squamous cell carcinoma(625;0.191)		AACATGTCTGCGTTGCCCTGC	0.652													C|||	1	0.000199681	0	0	5008	,	,		16531	0		0	False		,,,				2504	0.001				NSCLC(1;49 61 17205 18850 43201)	ENST00000452833.1																			0				breast(1)|central_nervous_system(1)|endometrium(4)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(2)|urinary_tract(2)	23						c.(2971-2973)Gca>Aca		transient receptor potential cation channel, subfamily M, member 5							73	55	61					11																	2428502		2200	4298	6498	SO:0001583	missense	29850					integral to membrane|plasma membrane	receptor activity|voltage-gated ion channel activity	g.chr11:2428502C>T	AF177473	CCDS31340.1	11p15.5	2011-12-14			ENSG00000070985	ENSG00000070985		"Voltage-gated ion channels / Transient receptor potential cation channels"	14323	protein-coding gene	gene with protein product		604600				10607831, 16382100	Standard	NM_014555		Approved	LTRPC5, MTR1	uc001lwm.4	Q9NZQ8	OTTHUMG00000009896	ENST00000155858.6:c.2965G>A	11.37:g.2428502C>T	ENSP00000155858:p.Ala989Thr					TRPM5_ENST00000528453.1_Missense_Mutation_p.A989T|AC124057.5_ENST00000433035.1_RNA|TRPM5_ENST00000533060.1_Missense_Mutation_p.A989T|TRPM5_ENST00000155858.6_Missense_Mutation_p.A989T	p.A991T			Q9NZQ8	TRPM5_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00147)|LUSC - Lung squamous cell carcinoma(625;0.191)	20	2979	-		Medulloblastoma(188;0.0049)|Breast(177;0.00586)|all_epithelial(84;0.0075)|Ovarian(85;0.0256)|all_neural(188;0.0311)	989						Missense_Mutation	SNP	ENST00000155858.6	37	c.2971G>A	CCDS31340.1	.	.	.	.	.	.	.	.	.	.	C	7.487	0.649833	0.14516	.	.	ENSG00000070985	ENST00000533881;ENST00000155858;ENST00000452833;ENST00000533060;ENST00000528453	D;D;D;D;D	0.85088	-1.94;-1.94;-1.94;-1.94;-1.94	3.26	3.26	0.37387	.	0.307553	0.30483	N	0.009530	T	0.70771	0.3262	N	0.21508	0.67	0.22253	N	0.999253	B;B;B	0.20368	0.043;0.043;0.044	B;B;B	0.14023	0.01;0.006;0.008	T	0.53337	-0.8453	10	0.18710	T	0.47	-19.5391	7.4223	0.27079	0.0:0.7829:0.0:0.2171	.	989;991;989	E9PRW0;Q9NZQ8-2;Q9NZQ8	.;.;TRPM5_HUMAN	T	983;989;991;989;989	ENSP00000434383:A983T;ENSP00000155858:A989T;ENSP00000387965:A991T;ENSP00000434121:A989T;ENSP00000436809:A989T	ENSP00000155858:A989T	A	-	1	0	TRPM5	2385078	0.992000	0.36948	0.231000	0.23993	0.881000	0.50899	2.727000	0.47311	1.780000	0.52325	0.511000	0.50034	GCA		0.652	TRPM5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000027378.1	NM_014555		11	11	0	0	0	1	0	11	11					T	2428502	C	T	2428502	3	4	435	1	0	0	0	0	1	0	0	0	16586	768	27	1	552	1	TRPM5	11	2428502	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	104369	2428502	132578014	4956	25881											
TRPM5	29850	broad.mit.edu	37	chr11	2443516	2443516	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcaagcagcaggtcaaagagCacagacggggccactccgct	12	3	13	13	2	1	2	1	0	0	2	2	2	2	2	2	3	3	5	2	3	2	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:2443516C>T	ENST00000155858.6	-	2	161	c.153G>A	c.(151-153)gtG>gtA	p.V51V	TRPM5_ENST00000452833.1_Silent_p.V51V|TRPM5_ENST00000533060.1_Silent_p.V51V|TRPM5_ENST00000528453.1_Silent_p.V51V	NM_014555.3	NP_055370.1			transient receptor potential cation channel, subfamily M, member 5											breast(1)|central_nervous_system(1)|endometrium(4)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(2)|urinary_tract(2)	23		Medulloblastoma(188;0.0049)|Breast(177;0.00586)|all_epithelial(84;0.0075)|Ovarian(85;0.0256)|all_neural(188;0.0311)		BRCA - Breast invasive adenocarcinoma(625;0.00147)|LUSC - Lung squamous cell carcinoma(625;0.191)		GGTCAAAGAGCACAGACGGGG	0.657																																					NSCLC(1;49 61 17205 18850 43201)	ENST00000452833.1																			0				breast(1)|central_nervous_system(1)|endometrium(4)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(2)|urinary_tract(2)	23						c.(151-153)gtG>gtA		transient receptor potential cation channel, subfamily M, member 5							51	55	54					11																	2443516		2200	4299	6499	SO:0001819	synonymous_variant	29850					integral to membrane|plasma membrane	receptor activity|voltage-gated ion channel activity	g.chr11:2443516C>T	AF177473	CCDS31340.1	11p15.5	2011-12-14			ENSG00000070985	ENSG00000070985		"Voltage-gated ion channels / Transient receptor potential cation channels"	14323	protein-coding gene	gene with protein product		604600				10607831, 16382100	Standard	NM_014555		Approved	LTRPC5, MTR1	uc001lwm.4	Q9NZQ8	OTTHUMG00000009896	ENST00000155858.6:c.153G>A	11.37:g.2443516C>T						TRPM5_ENST00000528453.1_Silent_p.V51V|TRPM5_ENST00000533060.1_Silent_p.V51V|TRPM5_ENST00000155858.6_Silent_p.V51V	p.V51V			Q9NZQ8	TRPM5_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00147)|LUSC - Lung squamous cell carcinoma(625;0.191)	2	161	-		Medulloblastoma(188;0.0049)|Breast(177;0.00586)|all_epithelial(84;0.0075)|Ovarian(85;0.0256)|all_neural(188;0.0311)	51						Silent	SNP	ENST00000155858.6	37	c.153G>A	CCDS31340.1																																																																																				0.657	TRPM5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000027378.1	NM_014555		11	20	0	0	0	1	0	11	20					T	2443516	C	T	2443516	2	4	435	1	0	0	0	0	0	0	0	1	16586	697	25	3		3	TRPM5	11	2443516	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	15014	2443516	132563000	4957	25882											
KCNQ1	3784	broad.mit.edu	37	chr11	2594154	2594154	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtacctggctgagaaggacGcggtgaacgagtcaggccgc	9	6	16	10	4	1	2	1	2	0	1	1	5	1	3	2	4	2	2	2	4	3	1	rs397508129		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:2594154G>A	ENST00000155840.5	+	6	967	c.859G>A	c.(859-861)Gcg>Acg	p.A287T	KCNQ1_ENST00000335475.5_Missense_Mutation_p.A160T	NM_000218.2	NP_000209.2	P51787	KCNQ1_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 1	287					atrial cardiac muscle cell action potential (GO:0086014)|cardiac muscle contraction (GO:0060048)|cardiovascular system development (GO:0072358)|cellular response to cAMP (GO:0071320)|cellular response to drug (GO:0035690)|cellular response to epinephrine stimulus (GO:0071872)|gene silencing (GO:0016458)|male gonad development (GO:0008584)|membrane repolarization during action potential (GO:0086011)|membrane repolarization during cardiac muscle cell action potential (GO:0086013)|negative regulation of insulin secretion (GO:0046676)|positive regulation of gastric acid secretion (GO:0060454)|positive regulation of potassium ion transmembrane transport (GO:1901381)|potassium ion export (GO:0071435)|potassium ion transmembrane transport (GO:0071805)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of heart contraction (GO:0008016)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of membrane repolarization (GO:0060306)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|sensory perception of sound (GO:0007605)|synaptic transmission (GO:0007268)|ventricular cardiac muscle cell action potential (GO:0086005)	basolateral plasma membrane (GO:0016323)|early endosome (GO:0005769)|late endosome (GO:0005770)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|voltage-gated potassium channel complex (GO:0008076)|zymogen granule membrane (GO:0042589)	calmodulin binding (GO:0005516)|delayed rectifier potassium channel activity (GO:0005251)|ion channel binding (GO:0044325)|outward rectifier potassium channel activity (GO:0015271)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|protein phosphatase 1 binding (GO:0008157)|scaffold protein binding (GO:0097110)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated potassium channel activity involved in atrial cardiac muscle cell action potential repolarization (GO:0086089)|voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization (GO:0086008)|voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization (GO:1902282)			endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)	21		all_epithelial(84;3.26e-05)|Breast(177;0.001)|Medulloblastoma(188;0.00111)|Ovarian(85;0.00158)|all_neural(188;0.00725)|all_lung(207;0.11)|Lung NSC(207;0.159)		BRCA - Breast invasive adenocarcinoma(625;0.00251)|Lung(200;0.131)	Bepridil(DB01244)|Indapamide(DB00808)	TGAGAAGGACGCGGTGAACGA	0.592																																						ENST00000155840.5																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)	21						c.(859-861)Gcg>Acg		potassium voltage-gated channel, KQT-like subfamily, member 1	Bepridil(DB01244)|Indapamide(DB00808)						129	98	108					11																	2594154		2202	4299	6501	SO:0001583	missense	3784				blood circulation|membrane depolarization|muscle contraction|sensory perception of sound		delayed rectifier potassium channel activity|protein binding	g.chr11:2594154G>A	AF000571	CCDS7736.1	11p15.5	2014-09-17			ENSG00000053918	ENSG00000053918		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6294	protein-coding gene	gene with protein product	"Jervell and Lange-Nielsen syndrome 1"	607542		LQT, KCNA9		8528244, 16382104	Standard	NM_181798		Approved	Kv7.1, KCNA8, KVLQT1, JLNS1, LQT1	uc001lwn.3	P51787	OTTHUMG00000009900	ENST00000155840.5:c.859G>A	11.37:g.2594154G>A	ENSP00000155840:p.Ala287Thr					KCNQ1_ENST00000335475.5_Missense_Mutation_p.A160T	p.A287T	NM_000218.2	NP_000209.2	P51787	KCNQ1_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00251)|Lung(200;0.131)	6	967	+		all_epithelial(84;3.26e-05)|Breast(177;0.001)|Medulloblastoma(188;0.00111)|Ovarian(85;0.00158)|all_neural(188;0.00725)|all_lung(207;0.11)|Lung NSC(207;0.159)	287					O00347|O60607|O94787|Q14D14|Q7Z6G9|Q92960|Q9UMN8|Q9UMN9	Missense_Mutation	SNP	ENST00000155840.5	37	c.859G>A	CCDS7736.1	.	.	.	.	.	.	.	.	.	.	G	16.01	3.001359	0.54254	.	.	ENSG00000053918	ENST00000155840;ENST00000335475	D;D	0.98585	-5.01;-5.01	3.74	3.74	0.42951	Ion transport (1);	0.060298	0.64402	D	0.000003	D	0.97914	0.9314	L	0.43598	1.365	0.51012	D	0.999903	D;D;D	0.69078	0.997;0.997;0.995	D;D;P	0.66716	0.91;0.946;0.781	D	0.97365	0.9972	9	.	.	.	-29.373	14.6568	0.68838	0.0:0.0:1.0:0.0	.	160;160;287	P51787-2;Q14D14;P51787	.;.;KCNQ1_HUMAN	T	287;160	ENSP00000155840:A287T;ENSP00000334497:A160T	.	A	+	1	0	KCNQ1	2550730	1.000000	0.71417	0.991000	0.47740	0.310000	0.27922	5.814000	0.69208	2.114000	0.64651	0.313000	0.20887	GCG		0.592	KCNQ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027382.2	NM_000218		12	13	0	0	0	1	0	12	13					A	2594154	G	A	2594154	3	1	435	1	0	0	0	0	1	0	0	0	8082	1087	38	1	890	1	KCNQ1	11	2594154	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	150638	2594154	132412362	4958	25883											
CARS	833	broad.mit.edu	37	chr11	3062163	3062163	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agatgcgtcatagacggttgGcccacagcaataccacgtca	12	7	10	12	3	2	2	2	0	0	2	2	2	2	2	2	2	3	2	2	2	3	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:3062163G>A	ENST00000397111.5	-	3	414	c.169C>T	c.(169-171)Cca>Tca	p.P57S	CARS_ENST00000401769.3_Missense_Mutation_p.P70S|CARS_ENST00000380525.4_Missense_Mutation_p.P140S|CARS_ENST00000278224.9_Missense_Mutation_p.P57S|CARS_ENST00000397114.3_Missense_Mutation_p.P47S|CARS-AS1_ENST00000499962.1_RNA			P49589	SYCC_HUMAN	cysteinyl-tRNA synthetase	57					cysteinyl-tRNA aminoacylation (GO:0006423)|gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|cysteine-tRNA ligase activity (GO:0004817)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|tRNA binding (GO:0000049)		CARS/ALK(5)	central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)	31		all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)		BRCA - Breast invasive adenocarcinoma(625;0.00317)|LUSC - Lung squamous cell carcinoma(625;0.218)	L-Cysteine(DB00151)	TAGACGGTTGGCCCACAGCAA	0.517			T	ALK	ALCL																																Ovarian(61;932 1157 5961 20446 52152)	ENST00000397114.3				Dom	yes		11	11p15.5	833	T	cysteinyl-tRNA synthetase			L	ALK		ALCL	CARS/ALK(5)	0				central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)	31						c.(139-141)Cca>Tca		cysteinyl-tRNA synthetase	L-Cysteine(DB00151)						262	190	214					11																	3062163		2202	4298	6500	SO:0001583	missense	833				cysteinyl-tRNA aminoacylation	cytoplasm|cytosol	ATP binding|cysteine-tRNA ligase activity|metal ion binding|protein homodimerization activity|tRNA binding	g.chr11:3062163G>A	AF288207	CCDS7742.1, CCDS41600.1, CCDS41602.1	11p15.5	2011-07-01			ENSG00000110619	ENSG00000110619	6.1.1.16	"Aminoacyl tRNA synthetases / Class I"	1493	protein-coding gene	gene with protein product	"cysteine tRNA ligase 1, cytoplasmic"	123859				8468064	Standard	NM_139273		Approved	CARS1	uc001lxf.3	P49589	OTTHUMG00000010927	ENST00000397111.5:c.169C>T	11.37:g.3062163G>A	ENSP00000380300:p.Pro57Ser					CARS-AS1_ENST00000499962.1_RNA|CARS_ENST00000397111.5_Missense_Mutation_p.P57S|CARS_ENST00000278224.9_Missense_Mutation_p.P57S|CARS_ENST00000401769.3_Missense_Mutation_p.P70S|CARS_ENST00000380525.4_Missense_Mutation_p.P140S	p.P47S			P49589	SYCC_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00317)|LUSC - Lung squamous cell carcinoma(625;0.218)	4	515	-		all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)	57					Q53XI8|Q5HYE4|Q9HD24|Q9HD25	Missense_Mutation	SNP	ENST00000397111.5	37	c.139C>T	CCDS7742.1	.	.	.	.	.	.	.	.	.	.	G	28.0	4.884904	0.91814	.	.	ENSG00000110619	ENST00000380525;ENST00000397111;ENST00000278224;ENST00000397114;ENST00000401769	T;T;T;T;T	0.56941	3.2;3.2;3.2;0.43;3.2	4.29	4.29	0.51040	Rossmann-like alpha/beta/alpha sandwich fold (1);	0.000000	0.85682	D	0.000000	D	0.84229	0.5426	H	0.99357	4.53	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;0.998;0.999;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	0.999;0.995;0.995;1.0;0.999;1.0	D	0.91643	0.5328	10	0.87932	D	0	-22.25	16.9537	0.86252	0.0:0.0:1.0:0.0	.	70;140;57;57;140;47	B4DKY1;B4DPV7;P49589;P49589-2;Q5HYE4;A8MVQ3	.;.;SYCC_HUMAN;.;.;.	S	140;57;57;47;70	ENSP00000369897:P140S;ENSP00000380300:P57S;ENSP00000278224:P57S;ENSP00000380303:P47S;ENSP00000384069:P70S	ENSP00000278224:P57S	P	-	1	0	CARS	3018739	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	8.758000	0.91663	2.218000	0.71995	0.650000	0.86243	CCA		0.517	CARS-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000030117.4	NM_001751		18	25	0	0	0	1	0	18	25					A	3062163	G	A	3062163	3	1	435	1	0	0	0	0	1	0	0	0	2657	1203	42	3	2165	3	CARS	11	3062163	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	468009	3062163	131944353	4959	25884											
OSBPL5	114879	broad.mit.edu	37	chr11	3128661	3128661	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gacttgtctgagaatgcatcGttctccagggaagacccgtt	9	11	11	10	2	2	2	0	1	2	2	4	5	2	3	2	1	1	3	2	1	2	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:3128661G>A	ENST00000263650.7	-	9	1050	c.891C>T	c.(889-891)aaC>aaT	p.N297N	OSBPL5_ENST00000348039.5_Silent_p.N229N|OSBPL5_ENST00000542243.1_Intron|OSBPL5_ENST00000389989.3_Silent_p.N229N|OSBPL5_ENST00000525498.1_Silent_p.N208N	NM_020896.3	NP_065947.1	Q9H0X9	OSBL5_HUMAN	oxysterol binding protein-like 5	297					cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|Golgi to plasma membrane transport (GO:0006893)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	cholesterol binding (GO:0015485)|oxysterol binding (GO:0008142)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	25		all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)		BRCA - Breast invasive adenocarcinoma(625;0.00607)|LUSC - Lung squamous cell carcinoma(625;0.207)		AGAATGCATCGTTCTCCAGGG	0.607																																						ENST00000263650.7																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	25						c.(889-891)aaC>aaT		oxysterol binding protein-like 5							148	147	147					11																	3128661		2202	4298	6500	SO:0001819	synonymous_variant	114879				cholesterol metabolic process|cholesterol transport|Golgi to plasma membrane transport	cytosol	oxysterol binding|protein binding	g.chr11:3128661G>A	AF392453	CCDS31343.1, CCDS31344.1	11p15.4	2013-01-10			ENSG00000021762	ENSG00000021762		"Oxysterol binding proteins", "Pleckstrin homology (PH) domain containing"	16392	protein-coding gene	gene with protein product		606733					Standard	NM_145638		Approved	KIAA1534, ORP5	uc001lxk.2	Q9H0X9	OTTHUMG00000011702	ENST00000263650.7:c.891C>T	11.37:g.3128661G>A						OSBPL5_ENST00000348039.5_Silent_p.N229N|OSBPL5_ENST00000525498.1_Silent_p.N208N|OSBPL5_ENST00000542243.1_Intron|OSBPL5_ENST00000389989.3_Silent_p.N229N	p.N297N	NM_020896.3	NP_065947.1	Q9H0X9	OSBL5_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00607)|LUSC - Lung squamous cell carcinoma(625;0.207)	9	1050	-		all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)	297					A6NDP0|A6NJS8|Q54A90|Q8N596|Q9BZB0|Q9P1Z4	Silent	SNP	ENST00000263650.7	37	c.891C>T	CCDS31344.1																																																																																				0.607	OSBPL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032332.2			50	77	0	0	0	1	0	50	77					A	3128661	G	A	3128661	2	1	435	1	0	0	0	0	0	0	0	1	11280	1136	40	1		1	OSBPL5	11	3128661	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	66498	3128661	131877855	4960	25885											
OSBPL5	114879	broad.mit.edu	37	chr11	3140843	3140843	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggctgtgtgatggagcccaCgctctcacctttggggccct	4	10	14	13	1	1	1	1	1	1	0	2	2	1	2	3	4	1	2	3	4	0	1	rs539611416		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:3140843C>T	ENST00000263650.7	-	7	784	c.625G>A	c.(625-627)Gtg>Atg	p.V209M	OSBPL5_ENST00000348039.5_Missense_Mutation_p.V141M|OSBPL5_ENST00000542243.1_Intron|OSBPL5_ENST00000389989.3_Missense_Mutation_p.V141M|OSBPL5_ENST00000525498.1_Missense_Mutation_p.V120M	NM_020896.3	NP_065947.1	Q9H0X9	OSBL5_HUMAN	oxysterol binding protein-like 5	209	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|Golgi to plasma membrane transport (GO:0006893)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	cholesterol binding (GO:0015485)|oxysterol binding (GO:0008142)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	25		all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)		BRCA - Breast invasive adenocarcinoma(625;0.00607)|LUSC - Lung squamous cell carcinoma(625;0.207)		ATGGAGCCCACGCTCTCACCT	0.627													C|||	1	0.000199681	8e-04	0	5008	,	,		18619	0		0	False		,,,				2504	0					ENST00000263650.7																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	25						c.(625-627)Gtg>Atg		oxysterol binding protein-like 5							84	78	80					11																	3140843		2202	4298	6500	SO:0001583	missense	114879				cholesterol metabolic process|cholesterol transport|Golgi to plasma membrane transport	cytosol	oxysterol binding|protein binding	g.chr11:3140843C>T	AF392453	CCDS31343.1, CCDS31344.1	11p15.4	2013-01-10			ENSG00000021762	ENSG00000021762		"Oxysterol binding proteins", "Pleckstrin homology (PH) domain containing"	16392	protein-coding gene	gene with protein product		606733					Standard	NM_145638		Approved	KIAA1534, ORP5	uc001lxk.2	Q9H0X9	OTTHUMG00000011702	ENST00000263650.7:c.625G>A	11.37:g.3140843C>T	ENSP00000263650:p.Val209Met					OSBPL5_ENST00000348039.5_Missense_Mutation_p.V141M|OSBPL5_ENST00000525498.1_Missense_Mutation_p.V120M|OSBPL5_ENST00000542243.1_Intron|OSBPL5_ENST00000389989.3_Missense_Mutation_p.V141M	p.V209M	NM_020896.3	NP_065947.1	Q9H0X9	OSBL5_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00607)|LUSC - Lung squamous cell carcinoma(625;0.207)	7	784	-		all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)	209			PH.		A6NDP0|A6NJS8|Q54A90|Q8N596|Q9BZB0|Q9P1Z4	Missense_Mutation	SNP	ENST00000263650.7	37	c.625G>A	CCDS31344.1	.	.	.	.	.	.	.	.	.	.	C	22.2	4.258254	0.80246	.	.	ENSG00000021762	ENST00000263650;ENST00000389989;ENST00000525498;ENST00000348039	T;T;T;T	0.35789	1.32;1.29;2.64;1.29	4.33	4.33	0.51752	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.64402	D	0.000010	T	0.39989	0.1099	L	0.47716	1.5	0.80722	D	1	P;P;P;P	0.52463	0.953;0.555;0.953;0.865	B;B;B;P	0.47626	0.372;0.25;0.372;0.552	T	0.23619	-1.0183	10	0.35671	T	0.21	-10.1419	17.0269	0.86450	0.0:1.0:0.0:0.0	.	120;170;141;209	B4DVB0;E7EP03;Q8N596;Q9H0X9	.;.;.;OSBL5_HUMAN	M	209;141;120;141	ENSP00000263650:V209M;ENSP00000374639:V141M;ENSP00000433342:V120M;ENSP00000302872:V141M	ENSP00000263650:V209M	V	-	1	0	OSBPL5	3097419	1.000000	0.71417	0.998000	0.56505	0.988000	0.76386	7.073000	0.76784	2.256000	0.74724	0.561000	0.74099	GTG		0.627	OSBPL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032332.2			15	28	0	0	0	1	0	15	28					T	3140843	C	T	3140843	3	4	435	1	0	0	0	0	1	0	0	0	11280	536	19	1	2078	1	OSBPL5	11	3140843	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	12182	3140843	131865673	4961	25886											
MRGPRE	116534	broad.mit.edu	37	chr11	3249706	3249706	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gccaggagactcaggcccacGatgtagcagaagaagcgcag	13	3	14	11	2	1	3	1	0	0	3	1	5	1	3	2	2	2	3	2	2	3	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:3249706G>A	ENST00000389832.5	-	2	630	c.324C>T	c.(322-324)atC>atT	p.I108I	MRGPRE_ENST00000436689.2_Silent_p.I107I|AC109309.4_ENST00000418995.2_RNA			Q86SM8	MRGRE_HUMAN	MAS-related GPR, member E	108						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(6)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	19		Medulloblastoma(188;0.00106)|all_epithelial(84;0.00111)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)		BRCA - Breast invasive adenocarcinoma(625;0.00529)|LUSC - Lung squamous cell carcinoma(625;0.19)		TCAGGCCCACGATGTAGCAGA	0.682																																						ENST00000389832.5																			0				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(6)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	19						c.(322-324)atC>atT		MAS-related GPR, member E							29	38	35					11																	3249706		2177	4276	6453	SO:0001819	synonymous_variant	116534					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr11:3249706G>A	AY255572	CCDS41603.1, CCDS41603.2	11p15.5	2012-08-21	2004-03-25		ENSG00000184350	ENSG00000184350		"GPCR / Class A : Orphans"	30694	protein-coding gene	gene with protein product		607232	"G protein-coupled receptor 167"	GPR167		11551509	Standard	NM_001039165		Approved	mrgE	uc001lxq.5	Q86SM8	OTTHUMG00000011708	ENST00000389832.5:c.324C>T	11.37:g.3249706G>A						AC109309.4_ENST00000418995.2_RNA|MRGPRE_ENST00000436689.2_Silent_p.I107I	p.I108I			Q86SM8	MRGRE_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00529)|LUSC - Lung squamous cell carcinoma(625;0.19)	2	630	-		Medulloblastoma(188;0.00106)|all_epithelial(84;0.00111)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)	107					Q2M1V7	Silent	SNP	ENST00000389832.5	37	c.324C>T																																																																																					0.682	MRGPRE-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000032346.5	XM_171536		7	17	0	0	0	1	0	7	17					A	3249706	G	A	3249706	2	1	435	1	0	0	0	0	0	0	0	1	9764	1048	37	2		2	MRGPRE	11	3249706	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	108863	3249706	131756810	4962	25887											
MRGPRE	116534	broad.mit.edu	37	chr11	3249775	3249775	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gggaagtccagccggccttgCagcaagtcggggacgatggc	8	5	17	11	3	0	0	0	0	0	0	2	3	1	2	3	5	3	2	3	5	2	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:3249775C>T	ENST00000389832.5	-	2	561	c.255G>A	c.(253-255)ctG>ctA	p.L85L	MRGPRE_ENST00000436689.2_Silent_p.L84L|AC109309.4_ENST00000418995.2_RNA			Q86SM8	MRGRE_HUMAN	MAS-related GPR, member E	85						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(6)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	19		Medulloblastoma(188;0.00106)|all_epithelial(84;0.00111)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)		BRCA - Breast invasive adenocarcinoma(625;0.00529)|LUSC - Lung squamous cell carcinoma(625;0.19)		GCCGGCCTTGCAGCAAGTCGG	0.632																																						ENST00000389832.5																			0				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(6)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	19						c.(253-255)ctG>ctA		MAS-related GPR, member E							53	65	61					11																	3249775		2149	4258	6407	SO:0001819	synonymous_variant	116534					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr11:3249775C>T	AY255572	CCDS41603.1, CCDS41603.2	11p15.5	2012-08-21	2004-03-25		ENSG00000184350	ENSG00000184350		"GPCR / Class A : Orphans"	30694	protein-coding gene	gene with protein product		607232	"G protein-coupled receptor 167"	GPR167		11551509	Standard	NM_001039165		Approved	mrgE	uc001lxq.5	Q86SM8	OTTHUMG00000011708	ENST00000389832.5:c.255G>A	11.37:g.3249775C>T						AC109309.4_ENST00000418995.2_RNA|MRGPRE_ENST00000436689.2_Silent_p.L84L	p.L85L			Q86SM8	MRGRE_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00529)|LUSC - Lung squamous cell carcinoma(625;0.19)	2	561	-		Medulloblastoma(188;0.00106)|all_epithelial(84;0.00111)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)	84					Q2M1V7	Silent	SNP	ENST00000389832.5	37	c.255G>A																																																																																					0.632	MRGPRE-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000032346.5	XM_171536		20	24	0	0	0	1	0	20	24					T	3249775	C	T	3249775	2	4	435	1	0	0	0	0	0	0	0	1	9764	697	25	3		3	MRGPRE	11	3249775	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	69	3249775	131756741	4963	25888											
CHRNA10	57053	broad.mit.edu	37	chr11	3687407	3687407	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agaagatggccaggaagaagCggtccatcacacgggccagg	13	3	15	10	2	1	3	1	0	0	3	2	4	2	4	3	5	1	0	3	5	3	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:3687407C>T	ENST00000250699.2	-	5	1354	c.1283G>A	c.(1282-1284)cGc>cAc	p.R428H	Y_RNA_ENST00000364409.1_RNA|CHRNA10_ENST00000493827.2_5'Flank|Y_RNA_ENST00000363331.1_RNA|CHRNA10_ENST00000534359.1_3'UTR	NM_020402.2	NP_065135.2	Q9GZZ6	ACH10_HUMAN	cholinergic receptor, nicotinic, alpha 10 (neuronal)	428					detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|inner ear morphogenesis (GO:0042472)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of cell proliferation (GO:0042127)|synaptic transmission, cholinergic (GO:0007271)	axon (GO:0030424)|cell junction (GO:0030054)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|perikaryon (GO:0043204)|postsynaptic membrane (GO:0045211)	acetylcholine-activated cation-selective channel activity (GO:0004889)|calcium channel activity (GO:0005262)|receptor binding (GO:0005102)			breast(1)|endometrium(2)|lung(3)|ovary(1)	7		Medulloblastoma(188;0.0075)|Breast(177;0.0164)|all_neural(188;0.0577)		BRCA - Breast invasive adenocarcinoma(625;0.0344)|LUSC - Lung squamous cell carcinoma(625;0.192)	Chloroprocaine(DB01161)|Galantamine(DB00674)|Methadone(DB00333)|Nicotine(DB00184)|Pentolinium(DB01090)|Succinylcholine(DB00202)|Trimethaphan(DB01116)	CAGGAAGAAGCGGTCCATCAC	0.622																																					Melanoma(153;17 1869 2949 7120 36888)	ENST00000250699.2																			0				breast(1)|endometrium(2)|lung(3)|ovary(1)	7						c.(1282-1284)cGc>cAc		cholinergic receptor, nicotinic, alpha 10 (neuronal)	Chloroprocaine(DB01161)|Methadone(DB00333)|Nicotine(DB00184)|Pentolinium(DB01090)|Procaine(DB00721)|Trimethaphan(DB01116)						62	62	62					11																	3687407		2201	4298	6499	SO:0001583	missense	57053				elevation of cytosolic calcium ion concentration|regulation of cell proliferation|synaptic transmission, cholinergic	cell junction|postsynaptic membrane	calcium channel activity|receptor activity|receptor binding	g.chr11:3687407C>T	AF199235	CCDS7745.1	11p15.5	2012-02-11	2012-02-07		ENSG00000129749	ENSG00000129749		"Cholinergic receptors", "Ligand-gated ion channels / Acetylcholine receptors, nicotinic"	13800	protein-coding gene	gene with protein product	"acetylcholine receptor, nicotinic, alpha 10 (neuronal)"	606372	"cholinergic receptor, nicotinic, alpha polypeptide 10"				Standard	NM_020402		Approved		uc001lyf.3	Q9GZZ6	OTTHUMG00000011844	ENST00000250699.2:c.1283G>A	11.37:g.3687407C>T	ENSP00000250699:p.Arg428His					CHRNA10_ENST00000534359.1_3'UTR	p.R428H	NM_020402.2	NP_065135.2	Q9GZZ6	ACH10_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.0344)|LUSC - Lung squamous cell carcinoma(625;0.192)	5	1354	-		Medulloblastoma(188;0.0075)|Breast(177;0.0164)|all_neural(188;0.0577)	428						Missense_Mutation	SNP	ENST00000250699.2	37	c.1283G>A	CCDS7745.1	.	.	.	.	.	.	.	.	.	.	C	32	5.149241	0.94645	.	.	ENSG00000129749	ENST00000250699	T	0.76578	-1.03	5.76	5.76	0.90799	Neurotransmitter-gated ion-channel transmembrane domain (1);	0.000000	0.64402	D	0.000014	D	0.89332	0.6685	M	0.82716	2.605	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.89968	0.4091	10	0.66056	D	0.02	.	18.5213	0.90954	0.0:1.0:0.0:0.0	.	428	Q9GZZ6	ACH10_HUMAN	H	428	ENSP00000250699:R428H	ENSP00000250699:R428H	R	-	2	0	CHRNA10	3643983	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.818000	0.86416	2.715000	0.92844	0.561000	0.74099	CGC		0.622	CHRNA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032763.2			8	32	0	0	0	1	0	8	32					T	3687407	C	T	3687407	3	4	435	1	0	0	0	0	1	0	0	0	3382	768	27	1	73	1	CHRNA10	11	3687407	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	437632	3687407	131319109	4964	25889											
CHRNA10	57053	broad.mit.edu	37	chr11	3687551	3687551	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtggctcgtggcaagggcccGctggggggccagcccctcct	3	6	17	15	2	0	0	0	0	0	0	2	0	1	0	5	6	1	3	5	6	1	0	rs141309069		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:3687551G>A	ENST00000250699.2	-	5	1210	c.1139C>T	c.(1138-1140)gCg>gTg	p.A380V	Y_RNA_ENST00000364409.1_RNA|CHRNA10_ENST00000493827.2_5'Flank|Y_RNA_ENST00000363331.1_RNA|CHRNA10_ENST00000534359.1_3'UTR	NM_020402.2	NP_065135.2	Q9GZZ6	ACH10_HUMAN	cholinergic receptor, nicotinic, alpha 10 (neuronal)	380					detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|inner ear morphogenesis (GO:0042472)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of cell proliferation (GO:0042127)|synaptic transmission, cholinergic (GO:0007271)	axon (GO:0030424)|cell junction (GO:0030054)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|perikaryon (GO:0043204)|postsynaptic membrane (GO:0045211)	acetylcholine-activated cation-selective channel activity (GO:0004889)|calcium channel activity (GO:0005262)|receptor binding (GO:0005102)			breast(1)|endometrium(2)|lung(3)|ovary(1)	7		Medulloblastoma(188;0.0075)|Breast(177;0.0164)|all_neural(188;0.0577)		BRCA - Breast invasive adenocarcinoma(625;0.0344)|LUSC - Lung squamous cell carcinoma(625;0.192)	Chloroprocaine(DB01161)|Galantamine(DB00674)|Methadone(DB00333)|Nicotine(DB00184)|Pentolinium(DB01090)|Succinylcholine(DB00202)|Trimethaphan(DB01116)	GCAAGGGCCCGCTGGGGGGCC	0.672													G|||	1	0.000199681	0	0	5008	,	,		15662	0		0	False		,,,				2504	0.001				Melanoma(153;17 1869 2949 7120 36888)	ENST00000250699.2																			0				breast(1)|endometrium(2)|lung(3)|ovary(1)	7						c.(1138-1140)gCg>gTg		cholinergic receptor, nicotinic, alpha 10 (neuronal)	Chloroprocaine(DB01161)|Methadone(DB00333)|Nicotine(DB00184)|Pentolinium(DB01090)|Procaine(DB00721)|Trimethaphan(DB01116)	G	VAL/ALA	0,4402		0,0,2201	47	53	51		1139	2.3	0.2	11	dbSNP_134	51	5,8589	3.7+/-12.6	0,5,4292	yes	missense	CHRNA10	NM_020402.2	64	0,5,6493	AA,AG,GG		0.0582,0.0,0.0385	benign	380/451	3687551	5,12991	2201	4297	6498	SO:0001583	missense	57053				elevation of cytosolic calcium ion concentration|regulation of cell proliferation|synaptic transmission, cholinergic	cell junction|postsynaptic membrane	calcium channel activity|receptor activity|receptor binding	g.chr11:3687551G>A	AF199235	CCDS7745.1	11p15.5	2012-02-11	2012-02-07		ENSG00000129749	ENSG00000129749		"Cholinergic receptors", "Ligand-gated ion channels / Acetylcholine receptors, nicotinic"	13800	protein-coding gene	gene with protein product	"acetylcholine receptor, nicotinic, alpha 10 (neuronal)"	606372	"cholinergic receptor, nicotinic, alpha polypeptide 10"				Standard	NM_020402		Approved		uc001lyf.3	Q9GZZ6	OTTHUMG00000011844	ENST00000250699.2:c.1139C>T	11.37:g.3687551G>A	ENSP00000250699:p.Ala380Val					CHRNA10_ENST00000534359.1_3'UTR	p.A380V	NM_020402.2	NP_065135.2	Q9GZZ6	ACH10_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.0344)|LUSC - Lung squamous cell carcinoma(625;0.192)	5	1210	-		Medulloblastoma(188;0.0075)|Breast(177;0.0164)|all_neural(188;0.0577)	380						Missense_Mutation	SNP	ENST00000250699.2	37	c.1139C>T	CCDS7745.1	.	.	.	.	.	.	.	.	.	.	G	5.375	0.254365	0.10185	0.0	5.82E-4	ENSG00000129749	ENST00000250699	T	0.69926	-0.44	5.28	2.32	0.28847	Neurotransmitter-gated ion-channel transmembrane domain (1);	1.844600	0.03103	N	0.161471	T	0.54886	0.1886	N	0.22421	0.69	0.09310	N	0.999993	B	0.21905	0.062	B	0.15052	0.012	T	0.38585	-0.9654	10	0.30854	T	0.27	.	9.7532	0.40487	0.0:0.1296:0.4689:0.4014	.	380	Q9GZZ6	ACH10_HUMAN	V	380	ENSP00000250699:A380V	ENSP00000250699:A380V	A	-	2	0	CHRNA10	3644127	0.000000	0.05858	0.196000	0.23383	0.075000	0.17131	0.349000	0.20055	0.290000	0.22444	-0.268000	0.10319	GCG		0.672	CHRNA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032763.2			22	47	0	0	0	1	0	22	47					A	3687551	G	A	3687551	3	1	435	1	0	0	0	0	1	0	0	0	3382	1087	38	1	217	1	CHRNA10	11	3687551	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	144	3687551	131318965	4965	25890											
CHRNA10	57053	broad.mit.edu	37	chr11	3688730	3688730	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taggtgagcacgcgccgccgCgccggcatgcccagcacgcg	6	3	15	17	8	0	1	0	1	0	0	0	1	0	1	4	2	3	3	4	2	1	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:3688730C>T	ENST00000250699.2	-	4	698	c.627G>A	c.(625-627)gcG>gcA	p.A209A	CHRNA10_ENST00000493827.2_5'Flank|Y_RNA_ENST00000363331.1_RNA|CHRNA10_ENST00000534359.1_Missense_Mutation_p.R27H	NM_020402.2	NP_065135.2	Q9GZZ6	ACH10_HUMAN	cholinergic receptor, nicotinic, alpha 10 (neuronal)	209					detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|inner ear morphogenesis (GO:0042472)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of cell proliferation (GO:0042127)|synaptic transmission, cholinergic (GO:0007271)	axon (GO:0030424)|cell junction (GO:0030054)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|perikaryon (GO:0043204)|postsynaptic membrane (GO:0045211)	acetylcholine-activated cation-selective channel activity (GO:0004889)|calcium channel activity (GO:0005262)|receptor binding (GO:0005102)			breast(1)|endometrium(2)|lung(3)|ovary(1)	7		Medulloblastoma(188;0.0075)|Breast(177;0.0164)|all_neural(188;0.0577)		BRCA - Breast invasive adenocarcinoma(625;0.0344)|LUSC - Lung squamous cell carcinoma(625;0.192)	Chloroprocaine(DB01161)|Galantamine(DB00674)|Methadone(DB00333)|Nicotine(DB00184)|Pentolinium(DB01090)|Succinylcholine(DB00202)|Trimethaphan(DB01116)	CGCGCCGCCGCGCCGGCATGC	0.736																																					Melanoma(153;17 1869 2949 7120 36888)	ENST00000534359.1																			0				breast(1)|endometrium(2)|lung(3)|ovary(1)	7						c.(79-81)cGc>cAc		cholinergic receptor, nicotinic, alpha 10 (neuronal)	Chloroprocaine(DB01161)|Methadone(DB00333)|Nicotine(DB00184)|Pentolinium(DB01090)|Procaine(DB00721)|Trimethaphan(DB01116)						7	9	9					11																	3688730		2022	4012	6034	SO:0001819	synonymous_variant	57053				elevation of cytosolic calcium ion concentration|regulation of cell proliferation|synaptic transmission, cholinergic	cell junction|postsynaptic membrane	calcium channel activity|receptor activity|receptor binding	g.chr11:3688730C>T	AF199235	CCDS7745.1	11p15.5	2012-02-11	2012-02-07		ENSG00000129749	ENSG00000129749		"Cholinergic receptors", "Ligand-gated ion channels / Acetylcholine receptors, nicotinic"	13800	protein-coding gene	gene with protein product	"acetylcholine receptor, nicotinic, alpha 10 (neuronal)"	606372	"cholinergic receptor, nicotinic, alpha polypeptide 10"				Standard	NM_020402		Approved		uc001lyf.3	Q9GZZ6	OTTHUMG00000011844	ENST00000250699.2:c.627G>A	11.37:g.3688730C>T						CHRNA10_ENST00000250699.2_Silent_p.A209A	p.R27H			Q9GZZ6	ACH10_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.0344)|LUSC - Lung squamous cell carcinoma(625;0.192)	4	676	-		Medulloblastoma(188;0.0075)|Breast(177;0.0164)|all_neural(188;0.0577)	353						Missense_Mutation	SNP	ENST00000250699.2	37	c.80G>A	CCDS7745.1	.	.	.	.	.	.	.	.	.	.	C	10.46	1.357706	0.24598	.	.	ENSG00000129749	ENST00000534359	.	.	.	5.22	-0.449	0.12226	.	.	.	.	.	T	0.41143	0.1146	.	.	.	0.29504	N	0.854692	.	.	.	.	.	.	T	0.47649	-0.9101	5	0.87932	D	0	.	6.9743	0.24666	0.0:0.2941:0.4377:0.2682	.	.	.	.	H	27	.	ENSP00000437107:R27H	R	-	2	0	CHRNA10	3645306	0.002000	0.14202	0.962000	0.40283	0.474000	0.32979	-0.190000	0.09615	-0.037000	0.13646	0.561000	0.74099	CGC		0.736	CHRNA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032763.2			4	16	0	0	0	1	0	4	16					T	3688730	C	T	3688730	2	4	435	1	0	0	0	0	0	0	0	1	3382	755	27	1		1	CHRNA10	11	3688730	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	1179	3688730	131317786	4966	25891											
NUP98	4928	broad.mit.edu	37	chr11	3704646	3704646	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctggcagtgccgggtaagcaGctctcgaacagccttctcac	8	8	11	14	2	2	0	1	0	2	0	4	1	2	0	2	2	5	4	2	2	2	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:3704646G>A	ENST00000324932.7	-	30	5122	c.4702C>T	c.(4702-4704)Ctg>Ttg	p.L1568L	NUP98_ENST00000359171.4_Silent_p.L1494L|NUP98_ENST00000355260.3_Silent_p.L1494L	NM_016320.4|NM_139132.3	NP_057404.2|NP_624358.2	P52948	NUP98_HUMAN	nucleoporin 98kDa	1585					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|DNA replication (GO:0006260)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|nuclear pore organization (GO:0006999)|nucleocytoplasmic transport (GO:0006913)|protein import into nucleus, docking (GO:0000059)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|nuclear envelope (GO:0005635)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)|nuclear pore outer ring (GO:0031080)|nucleoplasm (GO:0005654)	peptide binding (GO:0042277)|structural constituent of nuclear pore (GO:0017056)|transporter activity (GO:0005215)			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199)		CGGGTAAGCAGCTCTCGAACA	0.527			T	"HOXA9, NSD1, WHSC1L1, DDX10, TOP1, HOXD13, PMX1, HOXA13, HOXD11, HOXA11, RAP1GDS1, HOXC11"	AML																																	ENST00000324932.7				Dom	yes		11	11p15	4928	T	nucleoporin 98kDa			L	"HOXA9, NSD1, WHSC1L1, DDX10, TOP1, HOXD13, PMX1, HOXA13, HOXD11, HOXA11, RAP1GDS1, HOXC11"		AML		0				NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66						c.(4702-4704)Ctg>Ttg		nucleoporin 98kDa							82	81	81					11																	3704646		2201	4298	6499	SO:0001819	synonymous_variant	4928				carbohydrate metabolic process|DNA replication|glucose transport|interspecies interaction between organisms|mitotic prometaphase|mRNA transport|nuclear pore organization|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear membrane|nucleoplasm|Nup107-160 complex	protein binding|structural constituent of nuclear pore|transporter activity	g.chr11:3704646G>A	AF071076, AF231130, BC012906, BG773331	CCDS7746.1, CCDS31347.1, CCDS41605.1, CCDS41606.1	11p15	2008-02-26	2002-08-29		ENSG00000110713	ENSG00000110713			8068	protein-coding gene	gene with protein product		601021	"nucleoporin 98kD"			9166830	Standard	NM_139131		Approved	NUP96	uc001lyh.3	P52948	OTTHUMG00000011846	ENST00000324932.7:c.4702C>T	11.37:g.3704646G>A						NUP98_ENST00000359171.4_Silent_p.L1494L|NUP98_ENST00000355260.3_Silent_p.L1494L	p.L1568L	NM_016320.4|NM_139132.3	NP_057404.2|NP_624358.2	P52948	NUP98_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199)	30	5122	-		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)	1585					Q8IUT2|Q8WYB0|Q96E54|Q9H3Q4|Q9NT02|Q9UF57|Q9UHX0|Q9Y6J4|Q9Y6J5	Silent	SNP	ENST00000324932.7	37	c.4702C>T	CCDS7746.1	.	.	.	.	.	.	.	.	.	.	G	9.407	1.079520	0.20309	.	.	ENSG00000110713	ENST00000429801	.	.	.	6.02	4.15	0.48705	.	.	.	.	.	T	0.58090	0.2098	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.53865	-0.8378	4	.	.	.	-2.2169	7.728	0.28771	0.14:0.135:0.725:0.0	.	.	.	.	V	520	.	.	A	-	2	0	NUP98	3661222	0.733000	0.28132	1.000000	0.80357	0.997000	0.91878	0.816000	0.27267	0.886000	0.36113	0.650000	0.86243	GCT		0.527	NUP98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032766.3	NM_016320		11	30	0	0	0	1	0	11	30					A	3704646	G	A	3704646	2	1	435	1	0	0	0	0	0	0	0	1	10773	962	34	3		3	NUP98	11	3704646	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	15916	3704646	131301870	4967	25892											
NUP98	4928	broad.mit.edu	37	chr11	3707219	3707219	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcaccctgagttgtcaatgtGcaggaggacaaagatggccc	11	8	12	10	0	2	2	2	1	0	1	2	4	2	4	2	3	1	2	2	3	2	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:3707219G>A	ENST00000324932.7	-	29	5080	c.4660C>T	c.(4660-4662)Cac>Tac	p.H1554Y	NUP98_ENST00000359171.4_Intron|NUP98_ENST00000355260.3_Intron	NM_016320.4|NM_139132.3	NP_057404.2|NP_624358.2	P52948	NUP98_HUMAN	nucleoporin 98kDa	1571					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|DNA replication (GO:0006260)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|nuclear pore organization (GO:0006999)|nucleocytoplasmic transport (GO:0006913)|protein import into nucleus, docking (GO:0000059)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|nuclear envelope (GO:0005635)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)|nuclear pore outer ring (GO:0031080)|nucleoplasm (GO:0005654)	peptide binding (GO:0042277)|structural constituent of nuclear pore (GO:0017056)|transporter activity (GO:0005215)			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199)		TTGTCAATGTGCAGGAGGACA	0.532			T	"HOXA9, NSD1, WHSC1L1, DDX10, TOP1, HOXD13, PMX1, HOXA13, HOXD11, HOXA11, RAP1GDS1, HOXC11"	AML																																	ENST00000324932.7				Dom	yes		11	11p15	4928	T	nucleoporin 98kDa			L	"HOXA9, NSD1, WHSC1L1, DDX10, TOP1, HOXD13, PMX1, HOXA13, HOXD11, HOXA11, RAP1GDS1, HOXC11"		AML		0				NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66						c.(4660-4662)Cac>Tac		nucleoporin 98kDa							67	64	65					11																	3707219		2201	4298	6499	SO:0001583	missense	4928				carbohydrate metabolic process|DNA replication|glucose transport|interspecies interaction between organisms|mitotic prometaphase|mRNA transport|nuclear pore organization|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear membrane|nucleoplasm|Nup107-160 complex	protein binding|structural constituent of nuclear pore|transporter activity	g.chr11:3707219G>A	AF071076, AF231130, BC012906, BG773331	CCDS7746.1, CCDS31347.1, CCDS41605.1, CCDS41606.1	11p15	2008-02-26	2002-08-29		ENSG00000110713	ENSG00000110713			8068	protein-coding gene	gene with protein product		601021	"nucleoporin 98kD"			9166830	Standard	NM_139131		Approved	NUP96	uc001lyh.3	P52948	OTTHUMG00000011846	ENST00000324932.7:c.4660C>T	11.37:g.3707219G>A	ENSP00000316032:p.His1554Tyr					NUP98_ENST00000359171.4_Intron|NUP98_ENST00000355260.3_Intron	p.H1554Y	NM_016320.4|NM_139132.3	NP_057404.2|NP_624358.2	P52948	NUP98_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199)	29	5080	-		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)	1571					Q8IUT2|Q8WYB0|Q96E54|Q9H3Q4|Q9NT02|Q9UF57|Q9UHX0|Q9Y6J4|Q9Y6J5	Missense_Mutation	SNP	ENST00000324932.7	37	c.4660C>T	CCDS7746.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.66|16.66	3.184375|3.184375	0.57800|0.57800	.|.	.|.	ENSG00000110713|ENSG00000110713	ENST00000429801|ENST00000324932	.|.	.|.	.|.	5.59|5.59	5.59|5.59	0.84812|0.84812	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.85952|0.85952	0.5817|0.5817	M|M	0.91300|0.91300	3.195|3.195	0.80722|0.80722	D|D	1|1	.|D;D	.|0.76494	.|0.999;0.996	.|D;D	.|0.81914	.|0.995;0.909	D|D	0.87491|0.87491	0.2427|0.2427	5|9	.|0.54805	.|T	.|0.06	-12.14|-12.14	18.992|18.992	0.92796|0.92796	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|1554;1468	.|P52948-5;P52948-6	.|.;.	V|Y	506|1554	.|.	.|ENSP00000316032:H1554Y	A|H	-|-	2|1	0|0	NUP98|NUP98	3663795|3663795	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.357000|0.357000	0.29423|0.29423	7.564000|7.564000	0.82326|0.82326	2.805000|2.805000	0.96524|0.96524	0.650000|0.650000	0.86243|0.86243	GCA|CAC		0.532	NUP98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032766.3	NM_016320		31	47	0	0	0	1	0	31	47					A	3707219	G	A	3707219	3	1	435	1	0	0	0	0	1	0	0	0	10773	1319	46	3	762	3	NUP98	11	3707219	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	2573	3707219	131299297	4968	25893											
RHOG	391	broad.mit.edu	37	chr11	3849003	3849003	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggcgccgtagggtgtcaggCtgggctctcaggtccttctt	4	11	15	11	2	3	0	2	0	2	0	5	0	4	0	2	5	0	3	2	5	1	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:3849003C>T	ENST00000351018.4	-	2	523	c.366G>A	c.(364-366)caG>caA	p.Q122Q	RHOG_ENST00000396979.1_Silent_p.Q122Q|RHOG_ENST00000396978.1_Silent_p.Q122Q|RHOG_ENST00000533217.1_Silent_p.Q122Q	NM_001665.3	NP_001656.2	P84095	RHOG_HUMAN	ras homolog family member G	122					actin cytoskeleton organization (GO:0030036)|activation of Rac GTPase activity (GO:0032863)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell chemotaxis (GO:0060326)|GTP catabolic process (GO:0006184)|platelet activation (GO:0030168)|positive regulation of cell proliferation (GO:0008284)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of transcription, DNA-templated (GO:0045893)|Rac protein signal transduction (GO:0016601)|regulation of ruffle assembly (GO:1900027)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			endometrium(2)	2		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0349)|LUSC - Lung squamous cell carcinoma(625;0.194)		GGGTGTCAGGCTGGGCTCTCA	0.652																																						ENST00000351018.4																			0				endometrium(2)	2						c.(364-366)caG>caA		ras homolog family member G							46	42	43					11																	3849003		2201	4298	6499	SO:0001819	synonymous_variant	391				actin cytoskeleton organization|activation of Rac GTPase activity|axon guidance|cell chemotaxis|platelet activation|positive regulation of cell proliferation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of transcription, DNA-dependent|Rac protein signal transduction|Rho protein signal transduction	cytosol|plasma membrane	GTP binding|GTPase activity|protein binding	g.chr11:3849003C>T	X61587	CCDS7748.1	11p15.5-p15.4	2012-02-27	2012-02-27	2004-03-24	ENSG00000177105	ENSG00000177105			672	protein-coding gene	gene with protein product		179505	"ras homolog gene family, member G (rho G)"	ARHG		8325658	Standard	NM_001665		Approved	RhoG, MGC125835, MGC125836	uc001lyu.2	P84095	OTTHUMG00000012287	ENST00000351018.4:c.366G>A	11.37:g.3849003C>T						RHOG_ENST00000396979.1_Silent_p.Q122Q|RHOG_ENST00000533217.1_Silent_p.Q122Q|RHOG_ENST00000396978.1_Silent_p.Q122Q	p.Q122Q	NM_001665.3	NP_001656.2	P84095	RHOG_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.0349)|LUSC - Lung squamous cell carcinoma(625;0.194)	2	523	-		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)	122					P35238|Q8NI04	Silent	SNP	ENST00000351018.4	37	c.366G>A	CCDS7748.1																																																																																				0.652	RHOG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034125.2	NM_001665		6	8	0	0	0	1	0	6	8					T	3849003	C	T	3849003	2	4	435	1	0	0	0	0	0	0	0	1	13339	796	28	3		3	RHOG	11	3849003	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	141784	3849003	131157513	4969	25894											
OR52M1	119772	broad.mit.edu	37	chr11	4566922	4566922	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgcctctgatgatccgcctgCggctgcccctttataaaacc	7	11	8	15	2	1	2	0	2	1	0	2	2	2	2	6	1	4	1	6	1	3	3	rs374817370		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:4566922C>T	ENST00000360213.1	+	1	502	c.502C>T	c.(502-504)Cgg>Tgg	p.R168W		NM_001004137.1	NP_001004137.1	Q8NGK5	O52M1_HUMAN	olfactory receptor, family 52, subfamily M, member 1	168						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|large_intestine(2)|lung(9)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	18		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		GATCCGCCTGCGGCTGCCCCT	0.517																																						ENST00000360213.1																			0				endometrium(2)|large_intestine(2)|lung(9)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	18						c.(502-504)Cgg>Tgg		olfactory receptor, family 52, subfamily M, member 1							104	105	105					11																	4566922		2201	4298	6499	SO:0001583	missense	119772				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4566922C>T	AB065789	CCDS31353.1	11p15.4	2012-08-09	2002-11-13	2002-11-15	ENSG00000197790	ENSG00000197790		"GPCR / Class A : Olfactory receptors"	15225	protein-coding gene	gene with protein product			"olfactory receptor, family 52, subfamily M, member 1 pseudogene"	OR52M1P			Standard	NM_001004137		Approved		uc010qyf.2	Q8NGK5	OTTHUMG00000165706	ENST00000360213.1:c.502C>T	11.37:g.4566922C>T	ENSP00000353343:p.Arg168Trp						p.R168W	NM_001004137.1	NP_001004137.1	Q8NGK5	O52M1_HUMAN		Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)	1	502	+		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)	168						Missense_Mutation	SNP	ENST00000360213.1	37	c.502C>T	CCDS31353.1	.	.	.	.	.	.	.	.	.	.	C	23.5	4.419680	0.83559	.	.	ENSG00000197790	ENST00000360213	T	0.00188	8.59	4.98	-3.51	0.04696	GPCR, rhodopsin-like superfamily (1);	0.522839	0.15636	N	0.252122	T	0.00328	0.0010	M	0.76727	2.345	0.09310	N	1	D	0.89917	1.0	D	0.72075	0.976	T	0.52495	-0.8568	10	0.87932	D	0	.	0.5977	0.00739	0.3383:0.2627:0.1105:0.2885	.	168	Q8NGK5	O52M1_HUMAN	W	168	ENSP00000353343:R168W	ENSP00000353343:R168W	R	+	1	2	OR52M1	4523498	0.000000	0.05858	0.000000	0.03702	0.740000	0.42216	-5.506000	0.00117	-0.770000	0.04614	-0.133000	0.14855	CGG		0.517	OR52M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385847.1	NM_001004137		40	60	0	0	0	1	0	40	60					T	4566922	C	T	4566922	3	4	435	1	0	0	0	0	1	0	0	0	11126	759	27	1	504	1	OR52M1	11	4566922	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	717919	4566922	130439594	4970	25895											
TRIM68	55128	broad.mit.edu	37	chr11	4622021	4622021	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtcctcagacacgatgagacGggagtaagcagtatctggat	12	8	13	8	2	2	2	1	1	1	2	3	6	3	4	1	2	1	3	1	2	2	2	rs373028055		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:4622021G>A	ENST00000300747.5	-	7	1232	c.943C>T	c.(943-945)Cgt>Tgt	p.R315C		NM_018073.6	NP_060543.5	Q6AZZ1	TRI68_HUMAN	tripartite motif containing 68	315	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				protein autoubiquitination (GO:0051865)|regulation of androgen receptor signaling pathway (GO:0060765)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|histone acetyltransferase binding (GO:0035035)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(4)|ovary(1)|urinary_tract(1)	15		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)		Epithelial(150;9.49e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0288)|LUSC - Lung squamous cell carcinoma(625;0.192)		ACGATGAGACGGGAGTAAGCA	0.493																																						ENST00000300747.5																			0				breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(4)|ovary(1)|urinary_tract(1)	15						c.(943-945)Cgt>Tgt		tripartite motif containing 68		G	CYS/ARG	1,4401	2.1+/-5.4	0,1,2200	76	71	72		943	1.4	0.9	11		72	0,8596		0,0,4298	no	missense	TRIM68	NM_018073.5	180	0,1,6498	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	315/486	4622021	1,12997	2201	4298	6499	SO:0001583	missense	55128				protein autoubiquitination|regulation of androgen receptor signaling pathway	Golgi apparatus|nucleolus|perinuclear region of cytoplasm	androgen receptor binding|histone acetyltransferase binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr11:4622021G>A	AF360739	CCDS31356.1	11p15.4	2013-01-09	2011-01-25	2004-11-17		ENSG00000167333		"RING-type (C3HC4) zinc fingers", "Tripartite motif containing / Tripartite motif containing"	21161	protein-coding gene	gene with protein product		613184	"ring finger protein 137", "tripartite motif-containing 68"	RNF137		11597395	Standard	NM_018073		Approved	SS-56, FLJ10369	uc001lzf.2	Q6AZZ1		ENST00000300747.5:c.943C>T	11.37:g.4622021G>A	ENSP00000300747:p.Arg315Cys						p.R315C	NM_018073.6	NP_060543.5	Q6AZZ1	TRI68_HUMAN		Epithelial(150;9.49e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0288)|LUSC - Lung squamous cell carcinoma(625;0.192)	7	1232	-		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)	315			B30.2/SPRY.		A6NI19|A8K551|B3KPM5|B4DVK4|Q8WZ70|Q96LE5|Q96PF7|Q9H9C2|Q9NW18	Missense_Mutation	SNP	ENST00000300747.5	37	c.943C>T	CCDS31356.1	.	.	.	.	.	.	.	.	.	.	G	14.62	2.589269	0.46214	2.27E-4	0.0	ENSG00000167333	ENST00000300747;ENST00000544055;ENST00000526337	T;T	0.04706	3.57;3.57	5.52	1.35	0.21983	Concanavalin A-like lectin/glucanase (1);SPRY-associated (1);Butyrophylin-like (1);B30.2/SPRY domain (1);	0.517604	0.18114	N	0.151264	T	0.01905	0.0060	N	0.11064	0.09	0.21897	N	0.999486	P	0.38395	0.629	B	0.30179	0.112	T	0.45977	-0.9224	10	0.38643	T	0.18	.	3.2848	0.06927	0.2681:0.0:0.4527:0.2791	.	315	Q6AZZ1	TRI68_HUMAN	C	315;36;92	ENSP00000300747:R315C;ENSP00000434681:R92C	ENSP00000300747:R315C	R	-	1	0	TRIM68	4578597	0.000000	0.05858	0.944000	0.38274	0.618000	0.37518	-0.068000	0.11561	0.815000	0.34398	0.561000	0.74099	CGT		0.493	TRIM68-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385948.1	NM_018073		18	19	0	0	0	1	0	18	19					A	4622021	G	A	4622021	3	1	435	1	0	0	0	0	1	0	0	0	16538	1116	39	2	518	2	TRIM68	11	4622021	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	55099	4622021	130384495	4971	25896											
OR51D1	390038	broad.mit.edu	37	chr11	4661076	4661076	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacttcaaatggaaatctggTccacgcagcatacttccttt	11	12	6	12	1	2	0	1	0	1	0	4	1	4	1	2	2	2	2	2	2	3	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:4661076T>C	ENST00000357605.2	+	1	132	c.56T>C	c.(55-57)gTc>gCc	p.V19A		NM_001004751.2	NP_001004751.1	Q8NGF3	O51D1_HUMAN	olfactory receptor, family 51, subfamily D, member 1	19						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|liver(2)|lung(14)|prostate(1)|skin(2)|urinary_tract(1)	27		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;2.74e-13)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|GBM - Glioblastoma multiforme(2;0.0841)|LUSC - Lung squamous cell carcinoma(625;0.19)		GGAAATCTGGTCCACGCAGCA	0.488																																						ENST00000357605.2																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|liver(2)|lung(14)|prostate(1)|skin(2)|urinary_tract(1)	27						c.(55-57)gTc>gCc		olfactory receptor, family 51, subfamily D, member 1							164	148	154					11																	4661076		2201	4298	6499	SO:0001583	missense	390038				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4661076T>C	AB065855	CCDS31357.1	11p15.4	2012-08-09			ENSG00000197428	ENSG00000197428		"GPCR / Class A : Olfactory receptors"	15193	protein-coding gene	gene with protein product							Standard	NM_001004751		Approved	OR51D1Q	uc010qyk.2	Q8NGF3	OTTHUMG00000165724	ENST00000357605.2:c.56T>C	11.37:g.4661076T>C	ENSP00000350222:p.Val19Ala						p.V19A	NM_001004751.2	NP_001004751.1	Q8NGF3	O51D1_HUMAN		Epithelial(150;2.74e-13)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|GBM - Glioblastoma multiforme(2;0.0841)|LUSC - Lung squamous cell carcinoma(625;0.19)	1	132	+		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)	19					B9EIK4	Missense_Mutation	SNP	ENST00000357605.2	37	c.56T>C	CCDS31357.1	.	.	.	.	.	.	.	.	.	.	T	0.746	-0.774675	0.02951	.	.	ENSG00000197428	ENST00000357605	T	0.37584	1.19	4.59	3.47	0.39725	.	0.746604	0.11457	N	0.562220	T	0.28366	0.0701	L	0.48642	1.525	0.23492	N	0.99756	B	0.02656	0.0	B	0.06405	0.002	T	0.26395	-1.0104	10	0.19147	T	0.46	.	6.7153	0.23300	0.0:0.1067:0.0:0.8933	.	19	Q8NGF3	O51D1_HUMAN	A	19	ENSP00000350222:V19A	ENSP00000350222:V19A	V	+	2	0	OR51D1	4617652	0.291000	0.24352	0.989000	0.46669	0.001000	0.01503	0.663000	0.25053	0.901000	0.36495	0.455000	0.32223	GTC		0.488	OR51D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385956.1	NM_001004751		13	117	0	0	0	1	0	13	117					C	4661076	T	C	4661076	3	2	435	1	0	0	0	0	1	0	0	0	11093	1667	58	4	58	4	OR51D1	11	4661076	Missense_Mutation	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	39055	4661076	130345440	4972	25897											
OR51T1	401665	broad.mit.edu	37	chr11	4903923	4903923	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcctctctttggcacaccGcctcttccactccaccccaa	7	9	4	21	1	2	0	0	0	2	0	5	0	4	0	7	1	1	1	7	1	1	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:4903923G>A	ENST00000322049.1	+	1	794	c.794G>A	c.(793-795)cGc>cAc	p.R265H	OR51T1_ENST00000380378.1_Missense_Mutation_p.R292H|MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron			Q8NGJ9	O51T1_HUMAN	olfactory receptor, family 51, subfamily T, member 1	265						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		TTGGCACACCGCCTCTTCCAC	0.488																																						ENST00000380378.1																			0				NS(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34						c.(874-876)cGc>cAc		olfactory receptor, family 51, subfamily T, member 1							113	97	103					11																	4903923		2201	4298	6499	SO:0001583	missense	401665				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4903923G>A	BK004283	CCDS31363.1	11p15.4	2012-08-09			ENSG00000176900	ENSG00000176900		"GPCR / Class A : Olfactory receptors"	15205	protein-coding gene	gene with protein product							Standard	NM_001004759		Approved		uc010qyp.2	Q8NGJ9	OTTHUMG00000066507	ENST00000322049.1:c.794G>A	11.37:g.4903923G>A	ENSP00000322679:p.Arg265His					MMP26_ENST00000477339.1_Intron|OR51T1_ENST00000322049.1_Missense_Mutation_p.R265H|MMP26_ENST00000380390.1_Intron	p.R292H	NM_001004759.1	NP_001004759.1	Q8NGJ9	O51T1_HUMAN		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)	1	875	+		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)	265					Q6IFH9	Missense_Mutation	SNP	ENST00000322049.1	37	c.875G>A		.	.	.	.	.	.	.	.	.	.	G	13.04	2.118595	0.37436	.	.	ENSG00000176900	ENST00000380378;ENST00000322049	T;T	0.37235	1.21;1.21	4.97	4.97	0.65823	GPCR, rhodopsin-like superfamily (1);	0.000000	0.44902	D	0.000408	T	0.66538	0.2799	M	0.88775	2.98	0.09310	N	1	D	0.89917	1.0	D	0.80764	0.994	T	0.63659	-0.6587	10	0.72032	D	0.01	.	16.955	0.86257	0.0:0.0:1.0:0.0	.	265	Q8NGJ9	O51T1_HUMAN	H	292;265	ENSP00000369738:R292H;ENSP00000322679:R265H	ENSP00000322679:R265H	R	+	2	0	OR51T1	4860499	0.003000	0.15002	0.423000	0.26634	0.203000	0.24098	1.351000	0.34022	2.595000	0.87683	0.491000	0.48974	CGC		0.488	OR51T1-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000142180.1	NM_001004759		25	23	0	0	0	1	0	25	23					A	4903923	G	A	4903923	3	1	435	1	0	0	0	0	1	0	0	0	11106	1087	38	1	877	1	OR51T1	11	4903923	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	242847	4903923	130102593	4973	25898											
OR51G2	81282	broad.mit.edu	37	chr11	4935968	4935968	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttagtaacaaaaggcatgcGtcactcgatcccggatctgt	11	10	10	10	3	2	0	1	0	1	0	4	2	3	1	1	2	2	3	1	2	4	2	rs200630145		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:4935968G>A	ENST00000322013.3	-	1	954	c.926C>T	c.(925-927)aCg>aTg	p.T309M	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	NM_001005238.1	NP_001005238.1	Q8NGK0	O51G2_HUMAN	olfactory receptor, family 51, subfamily G, member 2	309						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			autonomic_ganglia(1)|endometrium(1)|large_intestine(9)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		AAAGGCATGCGTCACTCGATC	0.438																																						ENST00000322013.3																			0				autonomic_ganglia(1)|endometrium(1)|large_intestine(9)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(925-927)aCg>aTg		olfactory receptor, family 51, subfamily G, member 2							95	77	83					11																	4935968		2201	4298	6499	SO:0001583	missense	81282				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4935968G>A	AB065794	CCDS31365.1	11p15.4	2012-08-09			ENSG00000176893	ENSG00000176893		"GPCR / Class A : Olfactory receptors"	15198	protein-coding gene	gene with protein product							Standard	NM_001005238		Approved		uc001lzr.1	Q8NGK0	OTTHUMG00000066501	ENST00000322013.3:c.926C>T	11.37:g.4935968G>A	ENSP00000322593:p.Thr309Met					MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	p.T309M	NM_001005238.1	NP_001005238.1	Q8NGK0	O51G2_HUMAN		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)	1	954	-		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)	309					Q6IFH7	Missense_Mutation	SNP	ENST00000322013.3	37	c.926C>T	CCDS31365.1	.	.	.	.	.	.	.	.	.	.	G	10.45	1.352499	0.24512	.	.	ENSG00000176893	ENST00000322013	T	0.36878	1.23	4.9	2.04	0.26737	.	0.839267	0.10223	N	0.700684	T	0.18841	0.0452	N	0.16266	0.395	0.09310	N	1	P	0.45634	0.863	B	0.35240	0.198	T	0.09335	-1.0679	10	0.62326	D	0.03	.	6.3021	0.21119	0.2999:0.0:0.7001:0.0	.	309	Q8NGK0	O51G2_HUMAN	M	309	ENSP00000322593:T309M	ENSP00000322593:T309M	T	-	2	0	OR51G2	4892544	0.624000	0.27102	0.009000	0.14445	0.864000	0.49448	0.916000	0.28651	0.795000	0.33922	0.650000	0.86243	ACG		0.438	OR51G2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142174.1	NM_001005238		5	12	0	0	0	1	0	5	12					A	4935968	G	A	4935968	3	1	435	1	0	0	0	0	1	0	0	0	11099	1145	40	1	22	1	OR51G2	11	4935968	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	32045	4935968	130070548	4974	25899											
OR51A4	401666	broad.mit.edu	37	chr11	4967865	4967865	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agggaagggaagaaccaggaGcatgctcttaaaggagaata	17	5	14	5	0	1	2	0	0	1	2	1	6	1	5	1	4	3	2	1	4	7	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:4967865G>T	ENST00000380373.2	-	1	491	c.466C>A	c.(466-468)Ctc>Atc	p.L156I	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	NM_001005329.1	NP_001005329.1	Q8NGJ6	O51A4_HUMAN	olfactory receptor, family 51, subfamily A, member 4	156						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			large_intestine(3)|lung(15)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	29		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		AGAACCAGGAGCATGCTCTTA	0.423																																						ENST00000380373.2																			0				large_intestine(3)|lung(15)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	29						c.(466-468)Ctc>Atc		olfactory receptor, family 51, subfamily A, member 4							176	172	173					11																	4967865		2192	4270	6462	SO:0001583	missense	401666				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4967865G>T	AB065798	CCDS31367.1	11p15.4	2012-08-09			ENSG00000205497	ENSG00000205497		"GPCR / Class A : Olfactory receptors"	14795	protein-coding gene	gene with protein product							Standard	NM_001005329		Approved		uc010qys.2	Q8NGJ6	OTTHUMG00000066614	ENST00000380373.2:c.466C>A	11.37:g.4967865G>T	ENSP00000369731:p.Leu156Ile					MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	p.L156I	NM_001005329.1	NP_001005329.1	Q8NGJ6	O51A4_HUMAN		Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)	1	491	-		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)	156						Missense_Mutation	SNP	ENST00000380373.2	37	c.466C>A	CCDS31367.1	.	.	.	.	.	.	.	.	.	.	g	8.380	0.837236	0.16891	.	.	ENSG00000205497	ENST00000380373	T	0.43294	0.95	3.44	-4.21	0.03812	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.30070	0.0753	L	0.54323	1.7	0.09310	N	1	B	0.21071	0.051	B	0.30251	0.113	T	0.39563	-0.9608	9	0.21540	T	0.41	.	1.4486	0.02370	0.2388:0.1147:0.4131:0.2333	.	156	Q8NGJ6	O51A4_HUMAN	I	156	ENSP00000369731:L156I	ENSP00000369731:L156I	L	-	1	0	OR51A4	4924441	0.000000	0.05858	0.000000	0.03702	0.572000	0.35998	-5.362000	0.00128	-0.679000	0.05217	-2.272000	0.00274	CTC		0.423	OR51A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142821.1	NM_001005329		92	94	1	0	4.76065e-52	1	5.35449e-52	92	94					T	4967865	G	T	4967865	3	4	435	1	0	0	0	0	1	0	0	0	11087	971	34	5	477	5	OR51A4	11	4967865	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	31897	4967865	130038651	4975	25900											
OR51A4	401666	broad.mit.edu	37	chr11	4968093	4968093	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgcttaacacagtgggcaGagatgataaagacaaaccca	17	6	10	8	0	0	3	0	1	0	2	0	5	0	3	1	1	3	2	1	1	4	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:4968093G>T	ENST00000380373.2	-	1	263	c.238C>A	c.(238-240)Ctg>Atg	p.L80M	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	NM_001005329.1	NP_001005329.1	Q8NGJ6	O51A4_HUMAN	olfactory receptor, family 51, subfamily A, member 4	80						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			large_intestine(3)|lung(15)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	29		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		ACAGTGGGCAGAGATGATAAA	0.423																																						ENST00000380373.2																			0				large_intestine(3)|lung(15)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	29						c.(238-240)Ctg>Atg		olfactory receptor, family 51, subfamily A, member 4							131	123	126					11																	4968093		2196	4298	6494	SO:0001583	missense	401666				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4968093G>T	AB065798	CCDS31367.1	11p15.4	2012-08-09			ENSG00000205497	ENSG00000205497		"GPCR / Class A : Olfactory receptors"	14795	protein-coding gene	gene with protein product							Standard	NM_001005329		Approved		uc010qys.2	Q8NGJ6	OTTHUMG00000066614	ENST00000380373.2:c.238C>A	11.37:g.4968093G>T	ENSP00000369731:p.Leu80Met					MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	p.L80M	NM_001005329.1	NP_001005329.1	Q8NGJ6	O51A4_HUMAN		Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)	1	263	-		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)	80						Missense_Mutation	SNP	ENST00000380373.2	37	c.238C>A	CCDS31367.1	.	.	.	.	.	.	.	.	.	.	G	8.459	0.854896	0.17106	.	.	ENSG00000205497	ENST00000380373	T	0.00451	7.35	3.56	0.392	0.16288	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00637	0.0021	L	0.59967	1.855	0.09310	N	1	D	0.60575	0.988	D	0.71414	0.973	T	0.53287	-0.8460	9	0.44086	T	0.13	.	1.3834	0.02235	0.1782:0.3545:0.2866:0.1807	.	80	Q8NGJ6	O51A4_HUMAN	M	80	ENSP00000369731:L80M	ENSP00000369731:L80M	L	-	1	2	OR51A4	4924669	0.000000	0.05858	0.015000	0.15790	0.233000	0.25261	-1.732000	0.01851	0.260000	0.21731	0.567000	0.79289	CTG		0.423	OR51A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142821.1	NM_001005329		42	56	1	0	5.20006e-24	1	5.79904e-24	42	56					T	4968093	G	T	4968093	3	4	435	1	0	0	0	0	1	0	0	0	11087	933	33	5	705	5	OR51A4	11	4968093	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	228	4968093	130038423	4976	25901											
MMP26	56547	broad.mit.edu	37	chr11	5011027	5011027	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ctacaccagccccactgtggGgtgcctgatgggtccgacac	7	7	12	15	1	0	1	0	1	0	0	1	2	1	1	5	3	3	0	5	3	1	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:5011027G>A	ENST00000380390.1	+	3	465	c.249G>A	c.(247-249)ggG>ggA	p.G83G	MMP26_ENST00000300762.1_Silent_p.G83G|MMP26_ENST00000477339.1_3'UTR			Q9NRE1	MMP26_HUMAN	matrix metallopeptidase 26	83					collagen catabolic process (GO:0030574)|proteolysis (GO:0006508)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(11)|pancreas(1)|skin(3)|stomach(1)	22		Medulloblastoma(188;0.0025)|Breast(177;0.0204)|all_neural(188;0.0227)		Epithelial(150;1.33e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0287)|LUSC - Lung squamous cell carcinoma(625;0.191)	Marimastat(DB00786)	CCCACTGTGGGGTGCCTGATG	0.517																																						ENST00000380390.1																			0				breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(11)|pancreas(1)|skin(3)|stomach(1)	22						c.(247-249)ggG>ggA		matrix metallopeptidase 26							77	61	67					11																	5011027		2201	4298	6499	SO:0001819	synonymous_variant	56547				collagen catabolic process|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr11:5011027G>A	AF230354	CCDS7752.1	11p15	2008-07-18	2005-08-08		ENSG00000167346	ENSG00000167346	3.4.24.1		14249	protein-coding gene	gene with protein product	"matrilysin 2"	605470	"matrix metalloproteinase 26"			10801841, 10824119	Standard	NM_021801		Approved	endometase, MGC126590, MGC126592	uc001lzv.3	Q9NRE1	OTTHUMG00000066442	ENST00000380390.1:c.249G>A	11.37:g.5011027G>A						MMP26_ENST00000300762.1_Silent_p.G83G|MMP26_ENST00000477339.1_3'UTR	p.G83G			Q9NRE1	MMP26_HUMAN		Epithelial(150;1.33e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0287)|LUSC - Lung squamous cell carcinoma(625;0.191)	3	465	+		Medulloblastoma(188;0.0025)|Breast(177;0.0204)|all_neural(188;0.0227)	83					Q3MJ78|Q9GZS2|Q9NR87	Silent	SNP	ENST00000380390.1	37	c.249G>A	CCDS7752.1																																																																																				0.517	MMP26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142058.3	NM_021801		10	27	0	0	0	1	0	10	27					A	5011027	G	A	5011027	2	1	435	1	0	0	0	0	0	0	0	1	9663	1219	43	3		3	MMP26	11	5011027	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	42934	5011027	129995489	4977	25902											
OR51V1	283111	broad.mit.edu	37	chr11	5221608	5221608	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	catggatgaaataggactggGcaatgcaggaatccaagctg	14	7	13	7	0	0	1	0	1	0	0	1	4	1	4	1	4	2	3	1	4	5	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:5221608G>A	ENST00000321255.1	-	1	322	c.323C>T	c.(322-324)gCc>gTc	p.A108V		NM_001004760.2	NP_001004760.2	Q9H2C8	O51V1_HUMAN	olfactory receptor, family 51, subfamily V, member 1	108					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(2)|large_intestine(13)|lung(19)|skin(2)|upper_aerodigestive_tract(2)	39		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.83e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ATAGGACTGGGCAATGCAGGA	0.522																																						ENST00000321255.1																			0				endometrium(1)|kidney(2)|large_intestine(13)|lung(19)|skin(2)|upper_aerodigestive_tract(2)	39						c.(322-324)gCc>gTc		olfactory receptor, family 51, subfamily V, member 1							62	59	60					11																	5221608		2201	4298	6499	SO:0001583	missense	283111				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5221608G>A	BK004432	CCDS31375.1	11p15.4	2012-08-09			ENSG00000176742	ENSG00000176742		"GPCR / Class A : Olfactory receptors"	19597	protein-coding gene	gene with protein product				OR51A12			Standard	NM_001004760		Approved		uc010qyz.2	Q9H2C8	OTTHUMG00000066671	ENST00000321255.1:c.323C>T	11.37:g.5221608G>A	ENSP00000321729:p.Ala108Val						p.A108V	NM_001004760.2	NP_001004760.2	Q9H2C8	O51V1_HUMAN		Epithelial(150;2.83e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	322	-		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)	108						Missense_Mutation	SNP	ENST00000321255.1	37	c.323C>T	CCDS31375.1	.	.	.	.	.	.	.	.	.	.	G	10.42	1.345567	0.24426	.	.	ENSG00000176742	ENST00000321255	T	0.00940	5.52	5.48	2.51	0.30379	GPCR, rhodopsin-like superfamily (1);	0.926432	0.08898	N	0.877672	T	0.01156	0.0038	L	0.47716	1.5	0.09310	N	1	B	0.21071	0.051	B	0.29077	0.098	T	0.50717	-0.8795	10	0.11485	T	0.65	.	4.401	0.11386	0.3346:0.1711:0.4942:0.0	.	108	Q9H2C8	O51V1_HUMAN	V	108	ENSP00000321729:A108V	ENSP00000321729:A108V	A	-	2	0	OR51V1	5178184	0.000000	0.05858	0.069000	0.20011	0.805000	0.45488	0.232000	0.17891	0.890000	0.36211	0.650000	0.86243	GCC		0.522	OR51V1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142965.1	NM_001004760		13	14	0	0	0	1	0	13	14					A	5221608	G	A	5221608	3	1	435	1	0	0	0	0	1	0	0	0	11107	1203	42	3	645	3	OR51V1	11	5221608	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	210581	5221608	129784908	4978	25903											
HBB	3043	broad.mit.edu	37	chr11	5248219	5248219	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttgccccacagggcagtaacGgcagacttctcctcaggagt	9	8	11	13	1	2	1	1	0	1	1	3	2	2	2	3	3	2	3	3	3	1	3	rs67440443|rs35799536	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:5248219G>A	ENST00000335295.4	-	1	82	c.33C>T	c.(31-33)gcC>gcT	p.A11A	CoTC_ribozyme_ENST00000408104.1_RNA	NM_000518.4	NP_000509.1	P68871	HBB_HUMAN	hemoglobin, beta	11			A -> D (in Ankara; dbSNP:rs33947457). {ECO:0000269|PubMed:4850241}.|A -> V (in Iraq-Halabja). {ECO:0000269|PubMed:10398311}.		bicarbonate transport (GO:0015701)|blood coagulation (GO:0007596)|hydrogen peroxide catabolic process (GO:0042744)|nitric oxide transport (GO:0030185)|oxidation-reduction process (GO:0055114)|oxygen transport (GO:0015671)|platelet aggregation (GO:0070527)|positive regulation of cell death (GO:0010942)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|protein heterooligomerization (GO:0051291)|regulation of blood pressure (GO:0008217)|regulation of blood vessel size (GO:0050880)|renal absorption (GO:0070293)|response to hydrogen peroxide (GO:0042542)|small molecule metabolic process (GO:0044281)	blood microparticle (GO:0072562)|cytosol (GO:0005829)|endocytic vesicle lumen (GO:0071682)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|haptoglobin-hemoglobin complex (GO:0031838)|hemoglobin complex (GO:0005833)	heme binding (GO:0020037)|hemoglobin binding (GO:0030492)|iron ion binding (GO:0005506)|oxygen binding (GO:0019825)|oxygen transporter activity (GO:0005344)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|skin(1)	15		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.76e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	Iron Dextran(DB00893)	GGGCAGTAACGGCAGACTTCT	0.498									Sickle Cell Trait		OREG0003733	type=REGULATORY REGION|Gene=HBB|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																										ENST00000335295.3																			0				central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|skin(1)	15	GRCh37	CD991743|CS971756	HBB	D|S	rs35799536	c.(31-33)gcC>gcT		hemoglobin, beta	Iron Dextran(DB00893)						158	124	135					11																	5248219		2201	4298	6499	SO:0001819	synonymous_variant	3043	Sickle Cell Trait	Familial Cancer Database		blood coagulation|hydrogen peroxide catabolic process|nitric oxide transport|positive regulation of cell death|positive regulation of nitric oxide biosynthetic process|protein heterooligomerization|regulation of blood pressure|regulation of blood vessel size	haptoglobin-hemoglobin complex|hemoglobin complex	heme binding|hemoglobin binding|oxygen binding|oxygen transporter activity	g.chr11:5248219G>A	J00173	CCDS7753.1	11p15.5	2014-05-19			ENSG00000244734	ENSG00000244734			4827	protein-coding gene	gene with protein product		141900				2649166	Standard	NM_000518		Approved	CD113t-C, HBD, beta-globin	uc001mae.1	P68871	OTTHUMG00000066678	ENST00000335295.4:c.33C>T	11.37:g.5248219G>A			OREG0003733	type=REGULATORY REGION|Gene=HBB|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	625		p.A11A	NM_000518.4	NP_000509.1	P68871	HBB_HUMAN		Epithelial(150;2.76e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	208	-		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)	11		A -> D (in Ankara; dbSNP:rs33947457).|A -> V (in Iraq-Halabja).			A4GX73|B2ZUE0|P02023|Q13852|Q14481|Q14510|Q45KT0|Q549N7|Q6FI08|Q6R7N2|Q8IZI1|Q9BX96|Q9UCD6|Q9UCP8|Q9UCP9	Silent	SNP	ENST00000335295.4	37	c.33C>T	CCDS7753.1																																																																																				0.498	HBB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142977.2	NM_000518		21	24	0	0	0	1	0	21	24					A	5248219	G	A	5248219	2	1	435	1	0	0	0	0	0	0	0	1	6978	1103	39	2		2	HBB	11	5248219	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	26611	5248219	129758297	4979	25904											
OR51B4	79339	broad.mit.edu	37	chr11	5322273	5322273	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	actctgcccagaaaataggcGaataatgcttctttgaatct	13	12	7	9	1	3	2	0	1	3	1	3	3	3	2	1	1	2	1	1	1	6	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:5322273G>A	ENST00000380224.1	-	1	953	c.904C>T	c.(904-906)Cgc>Tgc	p.R302C	HBG2_ENST00000380252.1_Intron|HBG2_ENST00000380259.2_Intron|HBE1_ENST00000380237.1_Intron	NM_033179.2	NP_149419.2	Q9Y5P0	O51B4_HUMAN	olfactory receptor, family 51, subfamily B, member 4	302					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	20		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.76e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GAAAATAGGCGAATAATGCTT	0.433																																						ENST00000380224.1																			0				breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	20						c.(904-906)Cgc>Tgc		olfactory receptor, family 51, subfamily B, member 4							63	62	62					11																	5322273		2201	4297	6498	SO:0001583	missense	79339				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5322273G>A	BC069094	CCDS7757.1	11p15.4	2012-08-09			ENSG00000183251	ENSG00000183251		"GPCR / Class A : Olfactory receptors"	14708	protein-coding gene	gene with protein product							Standard	NM_033179		Approved		uc010qza.2	Q9Y5P0	OTTHUMG00000066665	ENST00000380224.1:c.904C>T	11.37:g.5322273G>A	ENSP00000369573:p.Arg302Cys					HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron|HBG2_ENST00000380259.2_Intron	p.R302C	NM_033179.2	NP_149419.2	Q9Y5P0	O51B4_HUMAN		Epithelial(150;2.76e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	953	-		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)	302					A7MAV5|Q6NTD7	Missense_Mutation	SNP	ENST00000380224.1	37	c.904C>T	CCDS7757.1	.	.	.	.	.	.	.	.	.	.	G	10.06	1.247671	0.22880	.	.	ENSG00000183251	ENST00000380224	T	0.41758	0.99	4.34	1.2	0.21068	.	1.039550	0.07648	N	0.931471	T	0.47783	0.1464	M	0.86864	2.845	0.09310	N	1	B	0.21071	0.051	B	0.11329	0.006	T	0.46190	-0.9209	10	0.56958	D	0.05	.	7.2737	0.26271	0.3031:0.0:0.6969:0.0	.	302	Q9Y5P0	O51B4_HUMAN	C	302	ENSP00000369573:R302C	ENSP00000369573:R302C	R	-	1	0	OR51B4	5278849	0.001000	0.12720	0.000000	0.03702	0.012000	0.07955	0.350000	0.20079	0.060000	0.16281	0.650000	0.86243	CGC		0.433	OR51B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142956.2	NM_033179		14	19	0	0	0	1	0	14	19					A	5322273	G	A	5322273	3	1	435	1	0	0	0	0	1	0	0	0	11090	1058	37	2	31	2	OR51B4	11	5322273	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	74054	5322273	129684243	4980	25905											
OR51B4	79339	broad.mit.edu	37	chr11	5322930	5322930	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctccctctggtctagcagcaGgacacccaggactgtgggca	8	7	12	14	0	2	0	0	0	2	0	3	2	3	2	2	4	2	3	2	4	1	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:5322930G>T	ENST00000380224.1	-	1	296	c.247C>A	c.(247-249)Ctg>Atg	p.L83M	HBG2_ENST00000380252.1_Intron|HBG2_ENST00000380259.2_Intron|HBE1_ENST00000380237.1_Intron	NM_033179.2	NP_149419.2	Q9Y5P0	O51B4_HUMAN	olfactory receptor, family 51, subfamily B, member 4	83					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	20		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.76e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TCTAGCAGCAGGACACCCAGG	0.512																																						ENST00000380224.1																			0				breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	20						c.(247-249)Ctg>Atg		olfactory receptor, family 51, subfamily B, member 4							133	123	126					11																	5322930		2201	4297	6498	SO:0001583	missense	79339				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5322930G>T	BC069094	CCDS7757.1	11p15.4	2012-08-09			ENSG00000183251	ENSG00000183251		"GPCR / Class A : Olfactory receptors"	14708	protein-coding gene	gene with protein product							Standard	NM_033179		Approved		uc010qza.2	Q9Y5P0	OTTHUMG00000066665	ENST00000380224.1:c.247C>A	11.37:g.5322930G>T	ENSP00000369573:p.Leu83Met					HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron|HBG2_ENST00000380259.2_Intron	p.L83M	NM_033179.2	NP_149419.2	Q9Y5P0	O51B4_HUMAN		Epithelial(150;2.76e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	296	-		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)	83					A7MAV5|Q6NTD7	Missense_Mutation	SNP	ENST00000380224.1	37	c.247C>A	CCDS7757.1	.	.	.	.	.	.	.	.	.	.	G	6.527	0.465439	0.12402	.	.	ENSG00000183251	ENST00000380224	T	0.00507	6.92	4.39	0.316	0.15857	GPCR, rhodopsin-like superfamily (1);	0.184713	0.26213	N	0.025679	T	0.00637	0.0021	M	0.78637	2.42	0.09310	N	1	P	0.50943	0.94	P	0.48304	0.573	T	0.51228	-0.8732	10	0.66056	D	0.02	.	0.8591	0.01189	0.332:0.1541:0.356:0.158	.	83	Q9Y5P0	O51B4_HUMAN	M	83	ENSP00000369573:L83M	ENSP00000369573:L83M	L	-	1	2	OR51B4	5279506	0.000000	0.05858	0.000000	0.03702	0.020000	0.10135	-0.491000	0.06474	-0.093000	0.12396	-0.150000	0.13652	CTG		0.512	OR51B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142956.2	NM_033179		14	29	1	0	0.000151284	1	0.000155038	14	29					T	5322930	G	T	5322930	3	4	435	1	0	0	0	0	1	0	0	0	11090	991	35	5	688	5	OR51B4	11	5322930	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	657	5322930	129683586	4981	25906											
OR51B2	79345	broad.mit.edu	37	chr11	5345138	5345138	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtattggtgagaatggaagcAtatctcaaaggattgcggat	13	11	13	4	1	1	1	1	1	1	1	2	5	1	4	0	4	2	2	0	4	5	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:5345138A>G	ENST00000328813.2	-	1	444	c.390T>C	c.(388-390)taT>taC	p.Y130Y	HBG2_ENST00000380252.1_Intron|HBG2_ENST00000380259.2_Intron|HBE1_ENST00000380237.1_Intron	NM_033180.4	NP_149420.4	Q9Y5P1	O51B2_HUMAN	olfactory receptor, family 51, subfamily B, member 2	130						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|biliary_tract(1)|central_nervous_system(1)|large_intestine(6)|lung(21)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GAATGGAAGCATATCTCAAAG	0.423																																						ENST00000328813.2																			0				NS(1)|biliary_tract(1)|central_nervous_system(1)|large_intestine(6)|lung(21)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35						c.(388-390)taT>taC		olfactory receptor, family 51, subfamily B, member 2							104	96	98					11																	5345138		2201	4297	6498	SO:0001819	synonymous_variant	79345				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5345138A>G	AF399503	CCDS31377.1	11p15.4	2012-08-09			ENSG00000184881	ENSG00000184881		"GPCR / Class A : Olfactory receptors"	14703	protein-coding gene	gene with protein product				OR51B1P			Standard	NM_033180		Approved		uc001mao.1	Q9Y5P1	OTTHUMG00000066682	ENST00000328813.2:c.390T>C	11.37:g.5345138A>G						HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron|HBG2_ENST00000380259.2_Intron	p.Y130Y	NM_033180.4	NP_149420.4	Q9Y5P1	O51B2_HUMAN		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	444	-		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)	130					Q96RD4	Silent	SNP	ENST00000328813.2	37	c.390T>C	CCDS31377.1																																																																																				0.423	OR51B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142983.1	NM_033180		33	51	0	0	0	1	0	33	51					G	5345138	A	G	5345138	2	3	435	1	0	0	0	0	0	0	0	1	11089	224	8	4		4	OR51B2	11	5345138	Silent	SNP	A	TCGA-XK-AAIW-01A-11D-A41K-08	22208	5345138	129661378	4982	25907											
OR51M1	390059	broad.mit.edu	37	chr11	5410880	5410880	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ctggccctcactgacctgggGctgtgtgtgtccacgttgcc	3	11	13	14	1	1	1	1	1	0	0	2	1	2	1	4	3	1	2	4	3	0	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:5410880G>A	ENST00000328611.3	+	1	274	c.252G>A	c.(250-252)ggG>ggA	p.G84G	HBG2_ENST00000380252.1_Intron|AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380259.2_Intron|HBE1_ENST00000380237.1_Intron	NM_001004756.2	NP_001004756.2	Q9H341	O51M1_HUMAN	olfactory receptor, family 51, subfamily M, member 1	84					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|upper_aerodigestive_tract(1)	30		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.98e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CTGACCTGGGGCTGTGTGTGT	0.478																																						ENST00000328611.3																			0				NS(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|upper_aerodigestive_tract(1)	30						c.(250-252)ggG>ggA		olfactory receptor, family 51, subfamily M, member 1							148	139	142					11																	5410880		2042	4195	6237	SO:0001819	synonymous_variant	390059					integral to membrane	olfactory receptor activity	g.chr11:5410880G>A	BK004382	CCDS53596.1	11p15.4	2012-08-09			ENSG00000184698	ENSG00000184698		"GPCR / Class A : Olfactory receptors"	14847	protein-coding gene	gene with protein product							Standard	NM_001004756		Approved		uc010qzc.2	Q9H341	OTTHUMG00000066680	ENST00000328611.3:c.252G>A	11.37:g.5410880G>A						HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron|AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380259.2_Intron	p.G84G	NM_001004756.2	NP_001004756.2	B2RNI9	B2RNI9_HUMAN		Epithelial(150;1.98e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	274	+		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)	84					Q6IF80	Silent	SNP	ENST00000328611.3	37	c.252G>A	CCDS53596.1																																																																																				0.478	OR51M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142981.1	NM_001004756		40	41	0	0	0	1	0	40	41					A	5410880	G	A	5410880	2	1	435	1	0	0	0	0	0	0	0	1	11103	1190	42	3		3	OR51M1	11	5410880	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	65742	5410880	129595636	4983	25908											
UBQLNL	143630	broad.mit.edu	37	chr11	5536527	5536527	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	taagctctatgctaggtaagGctggtatccaagctggctgc	9	11	12	9	0	1	0	0	0	1	0	2	0	2	0	1	4	4	7	1	4	6	5	rs367649472		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:5536527G>A	ENST00000380184.1	-	1	1408	c.1145C>T	c.(1144-1146)gCc>gTc	p.A382V	HBG2_ENST00000380259.2_Intron	NM_145053.4	NP_659490.4	Q8IYU4	UBQLN_HUMAN	ubiquilin-like	382										endometrium(1)|kidney(3)|large_intestine(9)|lung(13)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	33		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.92e-09)|BRCA - Breast invasive adenocarcinoma(625;0.136)		GCTAGGTAAGGCTGGTATCCA	0.488																																						ENST00000380184.1																			0				endometrium(1)|kidney(3)|large_intestine(9)|lung(13)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	33						c.(1144-1146)gCc>gTc		ubiquilin-like							181	173	176					11																	5536527		2201	4297	6498	SO:0001583	missense	143630							g.chr11:5536527G>A	AK127987	CCDS31385.1	11p15.4	2014-02-12			ENSG00000175518	ENSG00000175518		"Ubiquilin family"	28294	protein-coding gene	gene with protein product							Standard	NM_145053		Approved	MGC20470, MGC26958	uc001maz.4	Q8IYU4	OTTHUMG00000066903	ENST00000380184.1:c.1145C>T	11.37:g.5536527G>A	ENSP00000369531:p.Ala382Val					HBG2_ENST00000380259.2_Intron	p.A382V	NM_145053.4	NP_659490.4	Q8IYU4	UBQLN_HUMAN		Epithelial(150;1.92e-09)|BRCA - Breast invasive adenocarcinoma(625;0.136)	1	1408	-		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)	382					Q6ZRU1|Q96EK3|Q96MB0	Missense_Mutation	SNP	ENST00000380184.1	37	c.1145C>T	CCDS31385.1	.	.	.	.	.	.	.	.	.	.	G	0.253	-1.005191	0.02112	.	.	ENSG00000175518	ENST00000380184;ENST00000538889	T	0.49139	0.79	5.03	2.05	0.26809	.	0.738625	0.11588	N	0.549048	T	0.27629	0.0679	N	0.17474	0.49	0.09310	N	1	B	0.27997	0.197	B	0.24269	0.052	T	0.15954	-1.0419	10	0.25751	T	0.34	.	7.4287	0.27115	0.2784:0.0:0.7216:0.0	.	382	Q8IYU4	UBQLN_HUMAN	V	382;167	ENSP00000369531:A382V	ENSP00000369531:A382V	A	-	2	0	UBQLNL	5493103	0.091000	0.21658	0.010000	0.14722	0.057000	0.15508	0.619000	0.24388	0.668000	0.31126	0.655000	0.94253	GCC		0.488	UBQLNL-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143386.1	NM_145053		38	49	0	0	0	1	0	38	49					A	5536527	G	A	5536527	3	1	435	1	0	0	0	0	1	0	0	0	16897	1203	42	3	286	3	UBQLNL	11	5536527	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	125647	5536527	129469989	4984	25909											
TRIM5	85363	broad.mit.edu	37	chr11	5686330	5686330	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaccctataacccagtagccGtatttaggttgataattttc	12	14	6	9	1	0	1	0	1	0	0	1	1	0	1	3	1	3	3	3	1	7	10	rs56397848		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:5686330G>A	ENST00000380034.3	-	8	1447	c.1191C>T	c.(1189-1191)taC>taT	p.Y397Y	TRIM5_ENST00000380027.1_Intron|TRIM5_ENST00000483835.1_Intron|TRIM5_ENST00000396847.3_3'UTR|TRIM5_ENST00000305836.5_Silent_p.Y397Y|TRIM5_ENST00000396855.3_Intron|TRIM5_ENST00000396853.4_Intron	NM_033034.2|NM_033092.2	NP_149023.2|NP_149083.2	Q9C035	TRIM5_HUMAN	tripartite motif containing 5	397	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				activation of innate immune response (GO:0002218)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of viral entry into host cell (GO:0046597)|negative regulation of viral release from host cell (GO:1902187)|pattern recognition receptor signaling pathway (GO:0002221)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein K63-linked ubiquitination (GO:0070534)|protein trimerization (GO:0070206)|regulation of lipopolysaccharide-mediated signaling pathway (GO:0031664)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	identical protein binding (GO:0042802)|ligase activity (GO:0016874)|protein homodimerization activity (GO:0042803)|signaling pattern recognition receptor activity (GO:0008329)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)|Lung NSC(207;0.138)|all_lung(207;0.221)		Epithelial(150;7.21e-09)|BRCA - Breast invasive adenocarcinoma(625;0.139)		CCCAGTAGCCGTATTTAGGTT	0.423																																						ENST00000305836.5																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21						c.(1189-1191)taC>taT		tripartite motif containing 5							104	110	108					11																	5686330		2201	4297	6498	SO:0001819	synonymous_variant	85363				interspecies interaction between organisms|protein trimerization|response to virus	cytoplasm|cytoplasmic mRNA processing body	ligase activity|protein binding|protein homodimerization activity|zinc ion binding	g.chr11:5686330G>A	AF220025	CCDS31392.1, CCDS31393.1, CCDS31394.1	11p15	2014-06-03	2011-01-25		ENSG00000132256	ENSG00000132256		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	16276	protein-coding gene	gene with protein product	"tripartite motif protein TRIM5", "tripartite motif protein TRIM"	608487	"tripartite motif-containing 5"			11331580	Standard	NM_033034		Approved	RNF88, TRIM5alpha	uc001mbm.2	Q9C035	OTTHUMG00000066893	ENST00000380034.3:c.1191C>T	11.37:g.5686330G>A						TRIM5_ENST00000380027.1_Intron|TRIM5_ENST00000380034.3_Silent_p.Y397Y|TRIM5_ENST00000483835.1_Intron|TRIM5_ENST00000396853.4_Intron|TRIM5_ENST00000396855.3_Intron|TRIM5_ENST00000396847.3_3'UTR	p.Y397Y			Q9C035	TRIM5_HUMAN		Epithelial(150;7.21e-09)|BRCA - Breast invasive adenocarcinoma(625;0.139)	8	1493	-		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)|Lung NSC(207;0.138)|all_lung(207;0.221)	397			B30.2/SPRY.		A6NGQ1|A8WFA8|D3DQS8|D3DQS9|G3GJY1|Q2MLV4|Q2MLV8|Q2MLV9|Q2MLW1|Q2MLW3|Q2MLW4|Q2MLW6|Q2MLW7|Q2MLX1|Q2MLX2|Q2MLX3|Q2MLX5|Q2MLY3|Q2MLY4|Q2V6Q6|Q6GX26|Q8WU46|Q96SR5|Q9C031|Q9C032|Q9C033|Q9C034	Silent	SNP	ENST00000380034.3	37	c.1191C>T	CCDS31393.1																																																																																				0.423	TRIM5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000143360.3	NM_033034		52	83	0	0	0	1	0	52	83					A	5686330	G	A	5686330	2	1	435	1	0	0	0	0	0	0	0	1	16522	1140	40	1		1	TRIM5	11	5686330	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	149803	5686330	129320186	4985	25910											
TRIM5	85363	broad.mit.edu	37	chr11	5701287	5701287	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	catggacttcttgtggtttgCagtgaggcatgcttggcaga	7	13	14	7	0	1	2	0	1	1	1	1	3	1	3	0	4	2	5	0	4	0	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:5701287C>T	ENST00000380034.3	-	2	377	c.121G>A	c.(121-123)Gca>Aca	p.A41T	TRIM5_ENST00000380027.1_Missense_Mutation_p.A41T|TRIM5_ENST00000483835.1_5'Flank|TRIM5_ENST00000396847.3_Missense_Mutation_p.A41T|TRIM5_ENST00000305836.5_Missense_Mutation_p.A41T|TRIM5_ENST00000396855.3_Missense_Mutation_p.A41T|TRIM5_ENST00000396853.4_Missense_Mutation_p.A41T	NM_033034.2|NM_033092.2	NP_149023.2|NP_149083.2	Q9C035	TRIM5_HUMAN	tripartite motif containing 5	41					activation of innate immune response (GO:0002218)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of viral entry into host cell (GO:0046597)|negative regulation of viral release from host cell (GO:1902187)|pattern recognition receptor signaling pathway (GO:0002221)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein K63-linked ubiquitination (GO:0070534)|protein trimerization (GO:0070206)|regulation of lipopolysaccharide-mediated signaling pathway (GO:0031664)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	identical protein binding (GO:0042802)|ligase activity (GO:0016874)|protein homodimerization activity (GO:0042803)|signaling pattern recognition receptor activity (GO:0008329)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)|Lung NSC(207;0.138)|all_lung(207;0.221)		Epithelial(150;7.21e-09)|BRCA - Breast invasive adenocarcinoma(625;0.139)		TTGTGGTTTGCAGTGAGGCAT	0.552																																						ENST00000305836.5																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21						c.(121-123)Gca>Aca		tripartite motif containing 5							123	108	113					11																	5701287		2201	4297	6498	SO:0001583	missense	85363				interspecies interaction between organisms|protein trimerization|response to virus	cytoplasm|cytoplasmic mRNA processing body	ligase activity|protein binding|protein homodimerization activity|zinc ion binding	g.chr11:5701287C>T	AF220025	CCDS31392.1, CCDS31393.1, CCDS31394.1	11p15	2014-06-03	2011-01-25		ENSG00000132256	ENSG00000132256		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	16276	protein-coding gene	gene with protein product	"tripartite motif protein TRIM5", "tripartite motif protein TRIM"	608487	"tripartite motif-containing 5"			11331580	Standard	NM_033034		Approved	RNF88, TRIM5alpha	uc001mbm.2	Q9C035	OTTHUMG00000066893	ENST00000380034.3:c.121G>A	11.37:g.5701287C>T	ENSP00000369373:p.Ala41Thr					TRIM5_ENST00000380027.1_Missense_Mutation_p.A41T|TRIM5_ENST00000380034.3_Missense_Mutation_p.A41T|TRIM5_ENST00000396853.4_Missense_Mutation_p.A41T|TRIM5_ENST00000396855.3_Missense_Mutation_p.A41T|TRIM5_ENST00000396847.3_Missense_Mutation_p.A41T	p.A41T			Q9C035	TRIM5_HUMAN		Epithelial(150;7.21e-09)|BRCA - Breast invasive adenocarcinoma(625;0.139)	2	423	-		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)|Lung NSC(207;0.138)|all_lung(207;0.221)	41					A6NGQ1|A8WFA8|D3DQS8|D3DQS9|G3GJY1|Q2MLV4|Q2MLV8|Q2MLV9|Q2MLW1|Q2MLW3|Q2MLW4|Q2MLW6|Q2MLW7|Q2MLX1|Q2MLX2|Q2MLX3|Q2MLX5|Q2MLY3|Q2MLY4|Q2V6Q6|Q6GX26|Q8WU46|Q96SR5|Q9C031|Q9C032|Q9C033|Q9C034	Missense_Mutation	SNP	ENST00000380034.3	37	c.121G>A	CCDS31393.1	.	.	.	.	.	.	.	.	.	.	C	11.27	1.587881	0.28268	.	.	ENSG00000132256	ENST00000396855;ENST00000305836;ENST00000380034;ENST00000380027;ENST00000396847;ENST00000396853;ENST00000412903;ENST00000419850	D;D;D;D;D;D;D;D	0.92699	-1.82;-3.09;-3.09;-1.82;-3.09;-1.82;-3.09;-3.09	4.07	0.917	0.19380	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);Zinc finger, C3HC4 RING-type (1);	1.461070	0.04165	N	0.323797	D	0.89104	0.6620	N	0.05050	-0.12	0.09310	N	1	B;B;D	0.76494	0.367;0.367;0.999	B;B;D	0.73708	0.198;0.141;0.981	T	0.79780	-0.1659	10	0.40728	T	0.16	.	2.2485	0.04037	0.4238:0.3302:0.1425:0.1035	.	41;41;41	Q9C035-3;Q9C035-4;Q9C035	.;.;TRIM5_HUMAN	T	41	ENSP00000380064:A41T;ENSP00000307031:A41T;ENSP00000369373:A41T;ENSP00000369366:A41T;ENSP00000380058:A41T;ENSP00000380062:A41T;ENSP00000388031:A41T;ENSP00000388150:A41T	ENSP00000307031:A41T	A	-	1	0	TRIM5	5657863	0.000000	0.05858	0.007000	0.13788	0.047000	0.14425	-2.352000	0.01091	0.188000	0.20168	0.650000	0.86243	GCA		0.552	TRIM5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000143360.3	NM_033034		29	39	0	0	0	1	0	29	39					T	5701287	C	T	5701287	3	4	435	1	0	0	0	0	1	0	0	0	16522	710	25	3	1627	3	TRIM5	11	5701287	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	14957	5701287	129305229	4986	25911											
OR52N2	390077	broad.mit.edu	37	chr11	5842294	5842294	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cacaaagccttcagcacctgCacatctcacatgtgttccat	11	10	5	15	0	2	0	2	0	1	0	4	0	3	0	3	0	3	3	3	0	1	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:5842294C>T	ENST00000317037.2	+	1	751	c.729C>T	c.(727-729)tgC>tgT	p.C243C	TRIM5_ENST00000380027.1_Intron	NM_001005174.1	NP_001005174.1	Q8NGI0	O52N2_HUMAN	olfactory receptor, family 52, subfamily N, member 2	243						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(1)|pancreas(1)|skin(3)|stomach(1)|urinary_tract(1)	32		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.49e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TCAGCACCTGCACATCTCACA	0.413																																						ENST00000317037.2																			0				autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(1)|pancreas(1)|skin(3)|stomach(1)|urinary_tract(1)	32						c.(727-729)tgC>tgT		olfactory receptor, family 52, subfamily N, member 2							244	193	210					11																	5842294		2201	4296	6497	SO:0001819	synonymous_variant	390077				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5842294C>T	AB065816	CCDS31399.1	11p15.4	2012-08-09			ENSG00000180988	ENSG00000180988		"GPCR / Class A : Olfactory receptors"	15228	protein-coding gene	gene with protein product							Standard	NM_001005174		Approved		uc010qzp.2	Q8NGI0	OTTHUMG00000168801	ENST00000317037.2:c.729C>T	11.37:g.5842294C>T						TRIM5_ENST00000380027.1_Intron	p.C243C	NM_001005174.1	NP_001005174.1	Q8NGI0	O52N2_HUMAN		Epithelial(150;2.49e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	751	+		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)	243					Q6IFF9	Silent	SNP	ENST00000317037.2	37	c.729C>T	CCDS31399.1																																																																																				0.413	OR52N2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401143.1	NM_001005174		32	52	0	0	0	1	0	32	52					T	5842294	C	T	5842294	2	4	435	1	0	0	0	0	0	0	0	1	11128	718	25	3		3	OR52N2	11	5842294	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	141007	5842294	129164222	4987	25912											
OR52E6	390078	broad.mit.edu	37	chr11	5862274	5862274	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttacaggattgagggtgggaGgaacaaccacatatagatta	15	9	12	5	0	0	2	0	1	0	1	0	5	0	5	1	4	3	0	1	4	6	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:5862274G>T	ENST00000329322.5	-	1	853	c.854C>A	c.(853-855)cCt>cAt	p.P285H	TRIM5_ENST00000380027.1_Intron|OR52E6_ENST00000379946.2_Missense_Mutation_p.P289H	NM_001005167.1	NP_001005167.1	Q96RD3	O52E6_HUMAN	olfactory receptor, family 52, subfamily E, member 6	285						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.55e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GAGGGTGGGAGGAACAACCAC	0.403																																						ENST00000329322.5																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						c.(853-855)cCt>cAt		olfactory receptor, family 52, subfamily E, member 6							95	97	97					11																	5862274		2081	4247	6328	SO:0001583	missense	390078				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5862274G>T	AB065815	CCDS53597.1	11p15.4	2012-08-09				ENSG00000205409		"GPCR / Class A : Olfactory receptors"	15215	protein-coding gene	gene with protein product							Standard	NM_001005167		Approved		uc010qzq.2	Q96RD3		ENST00000329322.5:c.854C>A	11.37:g.5862274G>T	ENSP00000328878:p.Pro285His					OR52E6_ENST00000379946.2_Missense_Mutation_p.P289H|TRIM5_ENST00000380027.1_Intron	p.P285H	NM_001005167.1	NP_001005167.1	Q96RD3	O52E6_HUMAN		Epithelial(150;2.55e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	853	-		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)	285					Q6IFF8	Missense_Mutation	SNP	ENST00000329322.5	37	c.854C>A	CCDS53597.1	.	.	.	.	.	.	.	.	.	.	G	10.12	1.262721	0.23051	.	.	ENSG00000205409	ENST00000329322;ENST00000379946	T;T	0.37058	1.22;1.22	3.45	3.45	0.39498	GPCR, rhodopsin-like superfamily (1);	0.000000	0.52532	D	0.000061	T	0.66790	0.2825	H	0.94503	3.545	0.09310	N	1	D	0.89917	1.0	D	0.79108	0.992	T	0.62081	-0.6929	10	0.87932	D	0	.	10.6797	0.45807	0.0:0.1964:0.8036:0.0	.	285	Q96RD3	O52E6_HUMAN	H	285;289	ENSP00000328878:P285H;ENSP00000369279:P289H	ENSP00000328878:P285H	P	-	2	0	OR52E6	5818850	0.856000	0.29760	0.005000	0.12908	0.297000	0.27493	3.280000	0.51677	1.750000	0.51863	0.551000	0.68910	CCT		0.403	OR52E6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401144.1	NM_001005167		22	44	1	0	7.41877e-09	1	7.84611e-09	22	44					T	5862274	G	T	5862274	3	4	435	1	0	0	0	0	1	0	0	0	11117	1000	35	5	89	5	OR52E6	11	5862274	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	19980	5862274	129144242	4988	25913											
OR52E6	390078	broad.mit.edu	37	chr11	5862948	5862948	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atggccaggcagtagtacatGggctcatggagactctgctc	9	9	13	10	0	2	1	1	0	1	1	3	2	2	1	1	4	2	5	1	4	2	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:5862948G>T	ENST00000329322.5	-	1	179	c.180C>A	c.(178-180)ccC>ccA	p.P60P	TRIM5_ENST00000380027.1_Intron|OR52E6_ENST00000379946.2_Silent_p.P64P	NM_001005167.1	NP_001005167.1	Q96RD3	O52E6_HUMAN	olfactory receptor, family 52, subfamily E, member 6	60						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.55e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGTAGTACATGGGCTCATGGA	0.458																																						ENST00000329322.5																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						c.(178-180)ccC>ccA		olfactory receptor, family 52, subfamily E, member 6							124	124	124					11																	5862948		2201	4296	6497	SO:0001819	synonymous_variant	390078				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5862948G>T	AB065815	CCDS53597.1	11p15.4	2012-08-09				ENSG00000205409		"GPCR / Class A : Olfactory receptors"	15215	protein-coding gene	gene with protein product							Standard	NM_001005167		Approved		uc010qzq.2	Q96RD3		ENST00000329322.5:c.180C>A	11.37:g.5862948G>T						OR52E6_ENST00000379946.2_Silent_p.P64P|TRIM5_ENST00000380027.1_Intron	p.P60P	NM_001005167.1	NP_001005167.1	Q96RD3	O52E6_HUMAN		Epithelial(150;2.55e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	179	-		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)	60					Q6IFF8	Silent	SNP	ENST00000329322.5	37	c.180C>A	CCDS53597.1																																																																																				0.458	OR52E6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401144.1	NM_001005167		26	45	1	0	7.26314e-15	1	7.9373e-15	26	45					T	5862948	G	T	5862948	2	4	435	1	0	0	0	0	0	0	0	1	11117	1335	47	5		5	OR52E6	11	5862948	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	674	5862948	129143568	4989	25914											
OR56A3	390083	broad.mit.edu	37	chr11	5968893	5968893	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgcctgcttcctccagatgtAcatcatgaattgtttcctag	8	15	7	11	0	1	2	1	1	0	1	4	2	4	2	4	0	3	3	4	0	3	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:5968893A>G	ENST00000329564.6	+	1	324	c.317A>G	c.(316-318)tAc>tGc	p.Y106C	AC025016.1_ENST00000528915.1_lincRNA	NM_001003443.2	NP_001003443.2	Q8NH54	O56A3_HUMAN	olfactory receptor, family 56, subfamily A, member 3	106						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(27)|stomach(1)|upper_aerodigestive_tract(1)	41		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;9.41e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CTCCAGATGTACATCATGAAT	0.507																																						ENST00000329564.6																			0				endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(27)|stomach(1)|upper_aerodigestive_tract(1)	41						c.(316-318)tAc>tGc		olfactory receptor, family 56, subfamily A, member 3							165	157	159					11																	5968893		2201	4296	6497	SO:0001583	missense	390083				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5968893A>G		CCDS41614.1	11p15.4	2012-08-09		2004-03-10	ENSG00000184478	ENSG00000184478		"GPCR / Class A : Olfactory receptors"	14786	protein-coding gene	gene with protein product				OR56A6, OR56A3P			Standard	NM_001003443		Approved		uc010qzt.2	Q8NH54	OTTHUMG00000165373	ENST00000329564.6:c.317A>G	11.37:g.5968893A>G	ENSP00000331572:p.Tyr106Cys						p.Y106C	NM_001003443.2	NP_001003443.2	Q8NH54	O56A3_HUMAN		Epithelial(150;9.41e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	324	+		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)	106					A6NN77|Q6IFF7	Missense_Mutation	SNP	ENST00000329564.6	37	c.317A>G	CCDS41614.1	.	.	.	.	.	.	.	.	.	.	A	13.42	2.232429	0.39498	.	.	ENSG00000184478	ENST00000329564	T	0.03301	3.98	5.13	-10.3	0.00346	GPCR, rhodopsin-like superfamily (1);	0.749345	0.10257	U	0.696460	T	0.09905	0.0243	M	0.76727	2.345	0.25178	N	0.990229	P	0.50272	0.933	P	0.51266	0.664	T	0.43015	-0.9417	10	0.87932	D	0	-6.6498	19.8391	0.96675	0.1582:0.0:0.0:0.8418	.	106	Q8NH54	O56A3_HUMAN	C	106	ENSP00000331572:Y106C	ENSP00000331572:Y106C	Y	+	2	0	OR56A3	5925469	0.000000	0.05858	0.379000	0.26080	0.553000	0.35397	-3.281000	0.00528	-2.455000	0.00540	-1.731000	0.00696	TAC		0.507	OR56A3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383753.1	NM_001003443		5	144	0	0	0	1	0	5	144					G	5968893	A	G	5968893	3	3	435	1	0	0	0	0	1	0	0	0	11134	391	14	4	319	4	OR56A3	11	5968893	Missense_Mutation	SNP	A	TCGA-XK-AAIW-01A-11D-A41K-08	105945	5968893	129037623	4990	25915											
OR52B2	255725	broad.mit.edu	37	chr11	6191393	6191393	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acatgggcacatgaaggttaCgttccatgacaataaccact	14	9	8	10	1	0	2	0	2	0	0	1	2	1	2	2	2	2	3	2	2	4	3	rs201572583		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:6191393C>T	ENST00000530810.1	-	1	245	c.164G>A	c.(163-165)cGt>cAt	p.R55H	RP11-290F24.3_ENST00000529961.1_RNA	NM_001004052.1	NP_001004052.1	Q96RD2	O52B2_HUMAN	olfactory receptor, family 52, subfamily B, member 2	55						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|central_nervous_system(3)|endometrium(1)|large_intestine(1)|lung(15)	21		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;3.69e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ATGAAGGTTACGTTCCATGAC	0.483													c|||	1	0.000199681	0	0.0014	5008	,	,		24317	0		0	False		,,,				2504	0				NSCLC(5;186 261 1778 7098 14207)	ENST00000530810.1																			0				NS(1)|central_nervous_system(3)|endometrium(1)|large_intestine(1)|lung(15)	21						c.(163-165)cGt>cAt		olfactory receptor, family 52, subfamily B, member 2		T	HIS/ARG	0,4192		0,0,2096	192	191	191		164	-1.5	0	11		191	2,8458		0,2,4228	yes	missense	OR52B2	NM_001004052.1	29	0,2,6324	TT,TC,CC		0.0236,0.0,0.0158	benign	55/324	6191393	2,12650	2096	4230	6326	SO:0001583	missense	255725				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:6191393C>T	AB065763	CCDS53598.1	11p15.4	2012-08-09				ENSG00000255307		"GPCR / Class A : Olfactory receptors"	15207	protein-coding gene	gene with protein product							Standard	NM_001004052		Approved		uc010qzy.2	Q96RD2		ENST00000530810.1:c.164G>A	11.37:g.6191393C>T	ENSP00000432011:p.Arg55His					RP11-290F24.3_ENST00000529961.1_RNA	p.R55H	NM_001004052.1	NP_001004052.1	Q96RD2	O52B2_HUMAN		Epithelial(150;3.69e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	245	-		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)	55					Q8NGM7	Missense_Mutation	SNP	ENST00000530810.1	37	c.164G>A	CCDS53598.1	.	.	.	.	.	.	.	.	.	.	c	0.264	-0.997820	0.02145	0.0	2.36E-4	ENSG00000255307	ENST00000530810	T	0.00438	7.42	5.02	-1.49	0.08718	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00241	0.0007	N	0.20807	0.61	0.09310	N	1	B	0.11235	0.004	B	0.06405	0.002	T	0.20075	-1.0286	9	0.16420	T	0.52	.	12.0447	0.53473	0.0:0.6098:0.0:0.3902	.	55	Q96RD2	O52B2_HUMAN	H	55	ENSP00000432011:R55H	ENSP00000432011:R55H	R	-	2	0	OR52B2	6147969	0.000000	0.05858	0.001000	0.08648	0.005000	0.04900	-2.893000	0.00708	-0.775000	0.04584	-2.920000	0.00090	CGT		0.483	OR52B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385977.1	NM_001004052		29	45	0	0	0	1	0	29	45					T	6191393	C	T	6191393	3	4	435	1	0	0	0	0	1	0	0	0	11111	536	19	1	810	1	OR52B2	11	6191393	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	222500	6191393	128815123	4991	25916											
FAM160A2	84067	broad.mit.edu	37	chr11	6245335	6245335	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	agagcaaactccagcaggggCccagggcctgtgggggccga	9	3	17	12	1	0	1	0	0	0	1	1	2	1	1	4	5	3	2	4	5	1	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:6245335C>T	ENST00000449352.2	-	3	545	c.282G>A	c.(280-282)ggG>ggA	p.G94G	FAM160A2_ENST00000265978.4_Silent_p.G94G|FAM160A2_ENST00000524416.1_Silent_p.G94G			Q8N612	F16A2_HUMAN	family with sequence similarity 160, member A2	94					early endosome to late endosome transport (GO:0045022)|endosome organization (GO:0007032)|endosome to lysosome transport (GO:0008333)|lysosome organization (GO:0007040)|protein transport (GO:0015031)	FHF complex (GO:0070695)				NS(1)|endometrium(3)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						CCAGCAGGGGCCCAGGGCCTG	0.627																																						ENST00000265978.4																			0				NS(1)|endometrium(3)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						c.(280-282)ggG>ggA		family with sequence similarity 160, member A2							34	30	31					11																	6245335		2201	4296	6497	SO:0001819	synonymous_variant	84067				early endosome to late endosome transport|endosome organization|endosome to lysosome transport|lysosome organization|protein transport	FHF complex	protein binding	g.chr11:6245335C>T		CCDS7760.1, CCDS44530.1	11p15.4	2008-06-05	2008-06-05	2008-06-05	ENSG00000051009	ENSG00000051009			25378	protein-coding gene	gene with protein product			"chromosome 11 open reading frame 56"	C11orf56		11230166, 11214970	Standard	NM_001098794		Approved	FLJ22665, KIAA1759, DKFZP566M1046	uc001mck.4	Q8N612	OTTHUMG00000133379	ENST00000449352.2:c.282G>A	11.37:g.6245335C>T						FAM160A2_ENST00000449352.2_Silent_p.G94G|FAM160A2_ENST00000524416.1_Silent_p.G94G	p.G94G	NM_001098794.1|NM_032127.3	NP_001092264.1|NP_115503.2	Q8N612	F16A2_HUMAN			3	640	-			94					Q9C0A4|Q9H0N3|Q9H624	Silent	SNP	ENST00000449352.2	37	c.282G>A	CCDS44530.1																																																																																				0.627	FAM160A2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000383759.1	NM_032127		9	12	0	0	0	1	0	9	12					T	6245335	C	T	6245335	2	4	435	1	0	0	0	0	0	0	0	1	5469	726	26	3		3	FAM160A2	11	6245335	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	53942	6245335	128761181	4992	25917											
CNGA4	1262	broad.mit.edu	37	chr11	6261461	6261461	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggctgaaccgctttctccGcgcgccccgcctcttcgagg	4	8	12	17	6	2	1	0	1	2	0	4	3	2	1	5	2	1	2	5	2	1	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:6261461G>A	ENST00000379936.2	+	4	552	c.437G>A	c.(436-438)cGc>cAc	p.R146H	CNGA4_ENST00000533426.1_Intron	NM_001037329.3	NP_001032406.1	Q8IV77	CNGA4_HUMAN	cyclic nucleotide gated channel alpha 4	146					phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|sensory perception of smell (GO:0007608)	integral component of plasma membrane (GO:0005887)	cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|intracellular cAMP activated cation channel activity (GO:0005222)|intracellular cGMP activated cation channel activity (GO:0005223)|voltage-gated potassium channel activity (GO:0005249)			endometrium(2)|kidney(1)|large_intestine(9)|lung(24)|prostate(3)|skin(1)	40		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;2.04e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CGCTTTCTCCGCGCGCCCCGC	0.592																																						ENST00000379936.2																			0				endometrium(2)|kidney(1)|large_intestine(9)|lung(24)|prostate(3)|skin(1)	40						c.(436-438)cGc>cAc		cyclic nucleotide gated channel alpha 4							84	91	88					11																	6261461		2201	4296	6497	SO:0001583	missense	1262				response to stimulus|sensory perception of smell		cAMP binding	g.chr11:6261461G>A	AK122736	CCDS31408.1	11p15.4	2011-07-05		2002-01-18		ENSG00000132259		"Voltage-gated ion channels / Cyclic nucleotide-regulated channels"	2152	protein-coding gene	gene with protein product		609472	"cyclic nucleotide gated channel beta 2"	CNCA2, CNGB2		11764791, 16382102	Standard	NM_001037329		Approved	OCNC2, OCNCb, CNG5	uc001mco.3	Q8IV77		ENST00000379936.2:c.437G>A	11.37:g.6261461G>A	ENSP00000369268:p.Arg146His					CNGA4_ENST00000533426.1_Intron	p.R146H	NM_001037329.3	NP_001032406.1	Q8IV77	CNGA4_HUMAN		Epithelial(150;2.04e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)	4	552	+		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)	146						Missense_Mutation	SNP	ENST00000379936.2	37	c.437G>A	CCDS31408.1	.	.	.	.	.	.	.	.	.	.	G	24.0	4.482368	0.84747	.	.	ENSG00000132259	ENST00000379936	D	0.97303	-4.33	5.26	5.26	0.73747	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.98137	0.9385	M	0.84683	2.71	0.58432	D	0.999999	D;D	0.69078	0.997;0.991	P;P	0.57371	0.819;0.724	D	0.98438	1.0585	10	0.52906	T	0.07	.	17.7792	0.88518	0.0:0.0:1.0:0.0	.	146;106	Q8IV77;Q8IV77-2	CNGA4_HUMAN;.	H	146	ENSP00000369268:R146H	ENSP00000369268:R146H	R	+	2	0	CNGA4	6218037	0.996000	0.38824	0.884000	0.34674	0.576000	0.36127	3.255000	0.51484	2.607000	0.88179	0.655000	0.94253	CGC		0.592	CNGA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383765.2	NM_001037329		15	79	0	0	0	1	0	15	79					A	6261461	G	A	6261461	3	1	435	1	0	0	0	0	1	0	0	0	3599	1087	38	1	451	1	CNGA4	11	6261461	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	16126	6261461	128745055	4993	25918											
SMPD1	322	broad.mit.edu	37	chr11	6415469	6415469	+	IGR	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atggaaactactccgggagcTctcacgtggtcctggaccat	9	9	11	12	2	1	0	1	0	1	0	4	3	3	3	3	4	3	1	3	4	2	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:6415469T>C	ENST00000609360.1	-	0	2642				SMPD1_ENST00000356761.2_Missense_Mutation_p.S454P|SMPD1_ENST00000299397.3_Missense_Mutation_p.S466P|APBB1_ENST00000526240.1_5'Flank|SMPD1_ENST00000342245.4_Missense_Mutation_p.S510P|SMPD1_ENST00000527275.1_Missense_Mutation_p.S509P	NM_001164.3	NP_001155.1	O00213	APBB1_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 1 (Fe65)						apoptotic process (GO:0006915)|axonogenesis (GO:0007409)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|histone H4 acetylation (GO:0043967)|negative regulation of cell growth (GO:0030308)|negative regulation of thymidylate synthase biosynthetic process (GO:0050760)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|synapse (GO:0045202)	beta-amyloid binding (GO:0001540)|chromatin binding (GO:0003682)|histone binding (GO:0042393)|proline-rich region binding (GO:0070064)|transcription factor binding (GO:0008134)			breast(4)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|prostate(2)|skin(1)|urinary_tract(1)	24		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;6.49e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194)		CTCCGGGAGCTCTCACGTGGT	0.572																																					GBM(147;1810 2556 5672 39622)	ENST00000342245.4																			0				breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(3)	23						c.(1528-1530)Tct>Cct		sphingomyelin phosphodiesterase 1, acid lysosomal	Desipramine(DB01151)						77	71	73					11																	6415469		2201	4296	6497	SO:0001628	intergenic_variant	6609				cell death|ceramide biosynthetic process|negative regulation of MAP kinase activity|nervous system development|positive regulation of protein dephosphorylation|signal transduction|sphingomyelin catabolic process|termination of signal transduction	lysosome	hydrolase activity, acting on glycosyl bonds|sphingomyelin phosphodiesterase activity	g.chr11:6415469T>C	L77864	CCDS31410.1, CCDS58114.1, CCDS66015.1, CCDS66016.1, CCDS66017.1, CCDS66018.1	11p15	2008-02-01				ENSG00000166313			581	protein-coding gene	gene with protein product		602709		RIR		8955346, 8894693	Standard	NM_001164		Approved	Fe65	uc001mcy.1	O00213			11.37:g.6415469T>C						SMPD1_ENST00000299397.3_Missense_Mutation_p.S466P|SMPD1_ENST00000527275.1_Missense_Mutation_p.S509P|SMPD1_ENST00000356761.2_Missense_Mutation_p.S454P	p.S510P	NM_000543.4|NM_001007593.2	NP_000534.3|NP_001007594.2	P17405	ASM_HUMAN		Epithelial(150;4.9e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)	6	1696	+		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)	508					A1E379|A6NH82|A6NL69|B7Z1J5|B7Z1J6|B7Z2Y0|D3DQT2|Q7Z324|Q96A93|V9GYK0|V9GYT4	Missense_Mutation	SNP	ENST00000609360.1	37	c.1528T>C		.	.	.	.	.	.	.	.	.	.	T	16.34	3.096642	0.56075	.	.	ENSG00000166311	ENST00000299397;ENST00000356761;ENST00000342245;ENST00000527275	D;D;D;D	0.90563	-2.69;-2.69;-2.69;-2.69	4.68	4.68	0.58851	.	0.167544	0.40728	N	0.001027	D	0.95294	0.8473	M	0.87456	2.885	0.44816	D	0.997826	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.79108	0.976;0.992;0.983	D	0.95696	0.8745	10	0.72032	D	0.01	-23.4348	12.1259	0.53917	0.0:0.0:0.0:1.0	.	509;466;508	E9PKS3;G3XAB5;P17405	.;.;ASM_HUMAN	P	466;454;510;509	ENSP00000299397:S466P;ENSP00000349203:S454P;ENSP00000340409:S510P;ENSP00000435350:S509P	ENSP00000299397:S466P	S	+	1	0	SMPD1	6372045	1.000000	0.71417	1.000000	0.80357	0.628000	0.37860	3.504000	0.53347	1.985000	0.57927	0.379000	0.24179	TCT		0.572	APBB1-023	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000471831.1	NM_001164		14	21	0	0	0	1	0	14	21					C	6415469	T	C	6415469	1	2	435	0	1	0	0	0	0	0	0	0	14804	1551	54	4		4	SMPD1	11	6415469	IGR	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	154008	6415469	128591047	4994	25919											
APBB1	322	broad.mit.edu	37	chr11	6432426	6432426	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caccctcccccatggcgctgCgcaggtccttgggtcccaca	5	7	10	19	2	0	0	0	0	0	0	3	0	3	0	5	3	1	2	5	3	0	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:6432426C>T	ENST00000609360.1	-	2	251	c.152G>A	c.(151-153)cGc>cAc	p.R51H	APBB1_ENST00000389906.2_Missense_Mutation_p.R51H|APBB1_ENST00000299402.6_Missense_Mutation_p.R51H|APBB1_ENST00000311051.3_Missense_Mutation_p.R51H	NM_001164.3	NP_001155.1	O00213	APBB1_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 1 (Fe65)	51					apoptotic process (GO:0006915)|axonogenesis (GO:0007409)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|histone H4 acetylation (GO:0043967)|negative regulation of cell growth (GO:0030308)|negative regulation of thymidylate synthase biosynthetic process (GO:0050760)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|synapse (GO:0045202)	beta-amyloid binding (GO:0001540)|chromatin binding (GO:0003682)|histone binding (GO:0042393)|proline-rich region binding (GO:0070064)|transcription factor binding (GO:0008134)			breast(4)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|prostate(2)|skin(1)|urinary_tract(1)	24		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;6.49e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194)		CATGGCGCTGCGCAGGTCCTT	0.697																																					GBM(147;1810 2556 5672 39622)	ENST00000389906.2																			0				breast(4)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|prostate(2)|skin(1)|urinary_tract(1)	24						c.(151-153)cGc>cAc		amyloid beta (A4) precursor protein-binding, family B, member 1 (Fe65)							71	77	75					11																	6432426		2201	4295	6496	SO:0001583	missense	322				apoptosis|axonogenesis|cell cycle arrest|histone H4 acetylation|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of thymidylate synthase biosynthetic process|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|response to DNA damage stimulus|signal transduction|transcription, DNA-dependent	cytoplasm|growth cone|lamellipodium|nucleus|plasma membrane|synapse	beta-amyloid binding|chromatin binding|histone binding|proline-rich region binding|transcription factor binding	g.chr11:6432426C>T	L77864	CCDS31410.1, CCDS58114.1, CCDS66015.1, CCDS66016.1, CCDS66017.1, CCDS66018.1	11p15	2008-02-01				ENSG00000166313			581	protein-coding gene	gene with protein product		602709		RIR		8955346, 8894693	Standard	NM_001164		Approved	Fe65	uc001mcy.1	O00213		ENST00000609360.1:c.152G>A	11.37:g.6432426C>T	ENSP00000477213:p.Arg51His					APBB1_ENST00000533407.1_Intron|APBB1_ENST00000311051.3_Missense_Mutation_p.R51H|APBB1_ENST00000299402.6_Missense_Mutation_p.R51H	p.R51H	NM_001257325.1	NP_001244254.1	O00213	APBB1_HUMAN		Epithelial(150;6.49e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194)	2	251	-		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)	51					A1E379|A6NH82|A6NL69|B7Z1J5|B7Z1J6|B7Z2Y0|D3DQT2|Q7Z324|Q96A93|V9GYK0|V9GYT4	Missense_Mutation	SNP	ENST00000609360.1	37	c.152G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.53|16.53	3.148022|3.148022	0.57151|0.57151	.|.	.|.	ENSG00000166313|ENSG00000166313	ENST00000539758|ENST00000299402;ENST00000311051;ENST00000389906	.|T;T;T	.|0.14266	.|2.52;2.52;2.52	4.21|4.21	3.27|3.27	0.37495|0.37495	.|.	.|0.121414	.|0.33813	.|N	.|0.004522	.|T	.|0.07007	.|0.0178	N|N	0.19112|0.19112	0.55|0.55	0.26815|0.26815	N|N	0.968903|0.968903	.|B	.|0.32051	.|0.354	.|B	.|0.22753	.|0.041	.|T	.|0.20075	.|-1.0286	.|10	.|0.62326	.|D	.|0.03	.|-13.5354	5.9468|5.9468	0.19223|0.19223	0.0:0.7749:0.0:0.2251|0.0:0.7749:0.0:0.2251	.|.	.|51	.|O00213-2	.|.	.|H	-1|51	.|ENSP00000299402:R51H;ENSP00000311912:R51H;ENSP00000374556:R51H	.|ENSP00000299402:R51H	.|R	-|-	.|2	.|0	APBB1|APBB1	6389002|6389002	0.979000|0.979000	0.34478|0.34478	1.000000|1.000000	0.80357|0.80357	0.894000|0.894000	0.52154|0.52154	0.538000|0.538000	0.23160|0.23160	2.074000|2.074000	0.62210|0.62210	0.393000|0.393000	0.25936|0.25936	.|CGC		0.697	APBB1-023	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000471831.1	NM_001164		42	64	0	0	0	1	0	42	64					T	6432426	C	T	6432426	3	4	435	1	0	0	0	0	1	0	0	0	759	768	27	1	2032	1	APBB1	11	6432426	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	16957	6432426	128574090	4995	25920											
HPX	3263	broad.mit.edu	37	chr11	6452617	6452617	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cttttccatacacaaggctcCgtctaccttctcatggggcc	7	12	7	15	1	2	0	1	0	2	0	5	0	4	0	4	3	2	1	4	3	3	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:6452617C>T	ENST00000265983.3	-	10	1313	c.1213G>A	c.(1213-1215)Gga>Aga	p.G405R		NM_000613.2	NP_000604.1	P02790	HEMO_HUMAN	hemopexin	405					cellular iron ion homeostasis (GO:0006879)|heme metabolic process (GO:0042168)|heme transport (GO:0015886)|hemoglobin metabolic process (GO:0020027)|positive regulation of humoral immune response mediated by circulating immunoglobulin (GO:0002925)|positive regulation of immunoglobulin production (GO:0002639)|positive regulation of interferon-gamma-mediated signaling pathway (GO:0060335)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|viral process (GO:0016032)	blood microparticle (GO:0072562)|endocytic vesicle lumen (GO:0071682)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	heme transporter activity (GO:0015232)|metal ion binding (GO:0046872)			endometrium(1)|large_intestine(2)|lung(11)|prostate(1)	15		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;5.46e-08)|BRCA - Breast invasive adenocarcinoma(625;0.19)		CACAAGGCTCCGTCTACCTTC	0.572																																						ENST00000265983.3																			0				endometrium(1)|large_intestine(2)|lung(11)|prostate(1)	15						c.(1213-1215)Gga>Aga		hemopexin							140	126	131					11																	6452617		2201	4296	6497	SO:0001583	missense	3263				cellular iron ion homeostasis|interspecies interaction between organisms	extracellular space	heme transporter activity|metal ion binding|protein binding	g.chr11:6452617C>T	J03048	CCDS7763.1	11p15.5-p15.4	2012-10-02			ENSG00000110169	ENSG00000110169			5171	protein-coding gene	gene with protein product		142290				2989777, 2842511	Standard	NM_000613		Approved		uc001mdg.2	P02790	OTTHUMG00000133399	ENST00000265983.3:c.1213G>A	11.37:g.6452617C>T	ENSP00000265983:p.Gly405Arg						p.G405R	NM_000613.2	NP_000604.1	P02790	HEMO_HUMAN		Epithelial(150;5.46e-08)|BRCA - Breast invasive adenocarcinoma(625;0.19)	10	1313	-		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)	405					B2R957	Missense_Mutation	SNP	ENST00000265983.3	37	c.1213G>A	CCDS7763.1	.	.	.	.	.	.	.	.	.	.	C	18.64	3.668124	0.67814	.	.	ENSG00000110169	ENST00000265983	T	0.11169	2.8	5.64	5.64	0.86602	Hemopexin/matrixin (2);	0.265492	0.42682	D	0.000662	T	0.18002	0.0432	N	0.24115	0.695	0.31187	N	0.70136	D	0.89917	1.0	D	0.68621	0.959	T	0.02625	-1.1132	10	0.87932	D	0	-7.9627	10.5968	0.45343	0.0:0.913:0.0:0.087	.	405	P02790	HEMO_HUMAN	R	405	ENSP00000265983:G405R	ENSP00000265983:G405R	G	-	1	0	HPX	6409193	0.004000	0.15560	0.955000	0.39395	0.813000	0.45954	0.987000	0.29603	2.676000	0.91093	0.561000	0.74099	GGA		0.572	HPX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257256.1	NM_000613		15	25	0	0	0	1	0	15	25					T	6452617	C	T	6452617	3	4	435	1	0	0	0	0	1	0	0	0	7346	661	23	2	179	2	HPX	11	6452617	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	20191	6452617	128553899	4996	25921											
TRIM3	10612	broad.mit.edu	37	chr11	6478687	6478687	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcccccgactaaggcaattgCtgcggacagctgtggcaatc	9	7	12	13	2	0	0	0	0	0	0	1	2	0	1	2	3	3	4	2	3	3	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:6478687C>T	ENST00000525074.1	-	5	929	c.535G>A	c.(535-537)Gca>Aca	p.A179T	TRIM3_ENST00000537602.1_Missense_Mutation_p.A179T|TRIM3_ENST00000529058.1_5'UTR|TRIM3_ENST00000345851.3_Missense_Mutation_p.A179T|TRIM3_ENST00000359518.3_Missense_Mutation_p.A179T|TRIM3_ENST00000536344.1_Missense_Mutation_p.A60T	NM_001248006.1	NP_001234935.1	O75382	TRIM3_HUMAN	tripartite motif containing 3	179					nervous system development (GO:0007399)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|endosome (GO:0005768)	protein C-terminus binding (GO:0008022)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(3)	27		all_lung(207;9.97e-06)|Lung NSC(207;1.74e-05)|Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;9.34e-10)|Lung(200;0.0234)|LUSC - Lung squamous cell carcinoma(625;0.133)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AAGGCAATTGCTGCGGACAGC	0.597																																					Melanoma(6;5 510 1540 25169 29084)	ENST00000525074.1																			0				breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(3)	27						c.(535-537)Gca>Aca		tripartite motif containing 3							51	51	51					11																	6478687		2201	4296	6497	SO:0001583	missense	10612				nervous system development|protein transport	early endosome	protein C-terminus binding|zinc ion binding	g.chr11:6478687C>T	AF045239	CCDS7764.1, CCDS58115.1	11p15.5	2013-01-09	2011-01-25	2001-11-23	ENSG00000110171	ENSG00000110171		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	10064	protein-coding gene	gene with protein product	"ring finger protein 22", "brain expressed ring finger", "tripartite motif protein TRIM3"	605493	"tripartite motif-containing 3"	RNF22		10391919	Standard	NM_006458		Approved	HAC1, BERP, RNF97	uc009yfd.3	O75382	OTTHUMG00000133405	ENST00000525074.1:c.535G>A	11.37:g.6478687C>T	ENSP00000433102:p.Ala179Thr					TRIM3_ENST00000537602.1_Missense_Mutation_p.A179T|TRIM3_ENST00000536344.1_Missense_Mutation_p.A60T|TRIM3_ENST00000359518.3_Missense_Mutation_p.A179T|TRIM3_ENST00000345851.3_Missense_Mutation_p.A179T|TRIM3_ENST00000529058.1_5'UTR	p.A179T	NM_001248006.1	NP_001234935.1	O75382	TRIM3_HUMAN		Epithelial(150;9.34e-10)|Lung(200;0.0234)|LUSC - Lung squamous cell carcinoma(625;0.133)|BRCA - Breast invasive adenocarcinoma(625;0.135)	5	929	-		all_lung(207;9.97e-06)|Lung NSC(207;1.74e-05)|Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)	179					B7Z5E6|F5H2Q8|Q4V9L4|Q9C038|Q9C039	Missense_Mutation	SNP	ENST00000525074.1	37	c.535G>A	CCDS7764.1	.	.	.	.	.	.	.	.	.	.	C	24.0	4.481263	0.84747	.	.	ENSG00000110171	ENST00000530899;ENST00000525074;ENST00000545029;ENST00000345851;ENST00000336043;ENST00000537602;ENST00000359518;ENST00000536344;ENST00000528227	T;T;T;T;D;T	0.84516	-0.65;-0.65;-0.74;-0.65;-1.86;0.98	5.15	5.15	0.70609	B-box, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.90700	0.7082	M	0.74258	2.255	0.80722	D	1	D;D;D	0.67145	0.981;0.996;0.967	P;D;P	0.65010	0.897;0.931;0.792	D	0.88290	0.2942	10	0.18710	T	0.47	-7.922	17.1976	0.86898	0.0:1.0:0.0:0.0	.	60;60;179	F5H2Q8;D3DQT4;O75382	.;.;TRIM3_HUMAN	T	179;179;179;179;168;179;179;60;179	ENSP00000433102:A179T;ENSP00000340797:A179T;ENSP00000441091:A179T;ENSP00000352508:A179T;ENSP00000445460:A60T;ENSP00000433070:A179T	ENSP00000337094:A168T	A	-	1	0	TRIM3	6435263	1.000000	0.71417	0.989000	0.46669	0.694000	0.40290	6.865000	0.75500	2.402000	0.81655	0.462000	0.41574	GCA		0.597	TRIM3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384224.2	NM_006458		12	28	0	0	0	1	0	12	28					T	6478687	C	T	6478687	3	4	435	1	0	0	0	0	1	0	0	0	16501	797	28	3	1731	3	TRIM3	11	6478687	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	26070	6478687	128527829	4997	25922											
DNHD1	144132	broad.mit.edu	37	chr11	6588935	6588935	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcaccactagcctcctgggtCggcccctggatgaaaacacg	9	7	10	15	2	1	1	1	1	0	0	3	2	2	2	5	3	2	0	5	3	3	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:6588935C>T	ENST00000527990.2	+	34	12196	c.12196C>T	c.(12196-12198)Cgg>Tgg	p.R4066W	DNHD1_ENST00000254579.6_Missense_Mutation_p.R4066W			Q96M86	DNHD1_HUMAN	dynein heavy chain domain 1	4066					microtubule-based movement (GO:0007018)	dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)	microtubule motor activity (GO:0003777)			NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(13)|kidney(6)|large_intestine(11)|lung(14)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	55		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171)		Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		CCTCCTGGGTCGGCCCCTGGA	0.602																																						ENST00000254579.6																			0				NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(13)|kidney(6)|large_intestine(11)|lung(14)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	55						c.(12196-12198)Cgg>Tgg		dynein heavy chain domain 1							61	63	62					11																	6588935		2032	4174	6206	SO:0001583	missense	144132				microtubule-based movement	dynein complex	microtubule motor activity	g.chr11:6588935C>T	AK128064	CCDS44532.1, CCDS7767.1	11p15.4	2011-02-10		2005-11-28	ENSG00000179532	ENSG00000179532			26532	protein-coding gene	gene with protein product			"chromosome 11 open reading frame 47", "dynein heavy chain domain 1-like", "coiled-coil domain containing 35"	DHCD1, C11orf47, DNHD1L, CCDC35		12975309	Standard	NM_173589		Approved	FLJ32752, FLJ46184, FLJ35709, DKFZp686J0796	uc001mdw.4	Q96M86	OTTHUMG00000133403	ENST00000527990.2:c.12196C>T	11.37:g.6588935C>T	ENSP00000436180:p.Arg4066Trp					DNHD1_ENST00000527990.2_Missense_Mutation_p.R4066W	p.R4066W	NM_144666.2	NP_653267.2	Q96M86	DNHD1_HUMAN		Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)	36	12760	+		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171)	4066					Q2NKK8|Q6UWI9|Q8NAA2|Q8TEE6|Q9NSZ9	Missense_Mutation	SNP	ENST00000527990.2	37	c.12196C>T	CCDS44532.1	.	.	.	.	.	.	.	.	.	.	C	17.33	3.361879	0.61403	.	.	ENSG00000179532	ENST00000254579;ENST00000527990;ENST00000525883;ENST00000530197	T;T	0.08896	3.04;3.04	4.85	3.91	0.45181	Dynein heavy chain (1);	0.245409	0.30667	N	0.009135	T	0.15739	0.0379	L	0.60455	1.87	0.29193	N	0.875725	B;D;D;B	0.71674	0.08;0.998;0.99;0.029	B;P;P;B	0.57846	0.035;0.828;0.745;0.035	T	0.07366	-1.0776	10	0.87932	D	0	-21.7354	4.114	0.10072	0.198:0.6286:0.0:0.1735	.	3154;334;119;4066	B0I1S4;D3DQT9;Q9NSW8;Q96M86	.;.;.;DNHD1_HUMAN	W	4066;4066;334;334	ENSP00000254579:R4066W;ENSP00000436180:R4066W	ENSP00000254579:R4066W	R	+	1	2	DNHD1	6545511	0.855000	0.29742	0.993000	0.49108	0.827000	0.46813	0.960000	0.29253	1.223000	0.43536	0.561000	0.74099	CGG		0.602	DNHD1-007	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384673.2	NM_144666		12	48	0	0	0	1	0	12	48					T	6588935	C	T	6588935	3	4	435	1	0	0	0	0	1	0	0	0	4668	875	31	2	12339	2	DNHD1	11	6588935	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	110248	6588935	128417581	4998	25923											
ILK	3611	broad.mit.edu	37	chr11	6631830	6631830	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtgcctatccttgagaagatGcaggacaagtaggactggaa	13	8	13	7	0	0	2	0	1	0	2	1	6	1	5	2	3	2	2	2	3	5	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:6631830G>A	ENST00000396751.2	+	12	1803	c.1347G>A	c.(1345-1347)atG>atA	p.M449I	ILK_ENST00000420936.2_Missense_Mutation_p.M449I|ILK_ENST00000528995.1_Missense_Mutation_p.M388I|ILK_ENST00000299421.4_Missense_Mutation_p.M449I|TAF10_ENST00000531760.1_5'Flank|ILK_ENST00000537806.1_Missense_Mutation_p.M315I|RP11-732A19.2_ENST00000527398.1_RNA	NM_001014795.1	NP_001014795.1	Q13418	ILK_HUMAN	integrin-linked kinase	449					branching involved in ureteric bud morphogenesis (GO:0001658)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell junction assembly (GO:0034329)|cell proliferation (GO:0008283)|cell-matrix adhesion (GO:0007160)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|extracellular fibril organization (GO:0043206)|fibroblast migration (GO:0010761)|integrin-mediated signaling pathway (GO:0007229)|myelin assembly (GO:0032288)|myelination in peripheral nervous system (GO:0022011)|negative regulation of cardiac muscle cell apoptotic process (GO:0010667)|negative regulation of neural precursor cell proliferation (GO:2000178)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of smooth muscle cell proliferation (GO:0048662)|nerve development (GO:0021675)|neuron projection morphogenesis (GO:0048812)|peptidyl-serine phosphorylation (GO:0018105)|platelet aggregation (GO:0070527)|positive regulation of axon extension (GO:0045773)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of myoblast differentiation (GO:0045663)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of transcription, DNA-templated (GO:0045893)|protein heterooligomerization (GO:0051291)|protein kinase B signaling (GO:0043491)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton organization (GO:0032956)|substrate adhesion-dependent cell spreading (GO:0034446)	cell junction (GO:0030054)|cell-cell junction (GO:0005911)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|terminal bouton (GO:0043195)	ATP binding (GO:0005524)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|signal transducer activity (GO:0004871)			central_nervous_system(1)	1		Breast(177;7.61e-05)|Medulloblastoma(188;0.00263)|all_neural(188;0.026)|all_lung(207;0.152)		Epithelial(150;5.49e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00012)|Lung(200;0.00942)|LUSC - Lung squamous cell carcinoma(625;0.0163)		TTGAGAAGATGCAGGACAAGT	0.512																																						ENST00000396751.2																			0				central_nervous_system(1)	1						c.(1345-1347)atG>atA		integrin-linked kinase							84	86	85					11																	6631830		2201	4296	6497	SO:0001583	missense	3611				cell junction assembly|cell proliferation|cell-matrix adhesion|integrin-mediated signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of phosphorylation|positive regulation of transcription, DNA-dependent	cytosol|focal adhesion	ATP binding|protein serine/threonine kinase activity	g.chr11:6631830G>A	U40282	CCDS7768.1, CCDS60712.1, CCDS60713.1	11p15.4	2014-09-17			ENSG00000166333	ENSG00000166333		"Ankyrin repeat domain containing"	6040	protein-coding gene	gene with protein product		602366				8538749	Standard	NM_004517		Approved		uc001mef.3	Q13418	OTTHUMG00000133407	ENST00000396751.2:c.1347G>A	11.37:g.6631830G>A	ENSP00000379975:p.Met449Ile					ILK_ENST00000299421.4_Missense_Mutation_p.M449I|ILK_ENST00000537806.1_Missense_Mutation_p.M315I|ILK_ENST00000420936.2_Missense_Mutation_p.M449I|ILK_ENST00000528995.1_Missense_Mutation_p.M388I	p.M449I	NM_001014795.1	NP_001014795.1	Q13418	ILK_HUMAN		Epithelial(150;5.49e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00012)|Lung(200;0.00942)|LUSC - Lung squamous cell carcinoma(625;0.0163)	12	1803	+		Breast(177;7.61e-05)|Medulloblastoma(188;0.00263)|all_neural(188;0.026)|all_lung(207;0.152)	449					B7Z1I0|B7Z418|D3DQU0|P57043|Q68DZ3	Missense_Mutation	SNP	ENST00000396751.2	37	c.1347G>A	CCDS7768.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.977503	0.74360	.	.	ENSG00000166333	ENST00000299421;ENST00000537806;ENST00000420936;ENST00000528995;ENST00000396751	T;D;T;T;T	0.81739	-1.11;-1.53;-1.11;-1.18;-1.11	5.29	5.29	0.74685	Protein kinase-like domain (1);	0.000000	0.85682	D	0.000000	D	0.86806	0.6021	L	0.47016	1.485	0.80722	D	1	P;D	0.61697	0.743;0.99	P;D	0.71656	0.462;0.974	D	0.87601	0.2497	10	0.87932	D;D	0;0	.	18.1648	0.89722	0.0:0.0:1.0:0.0	.	388;449	B7Z418;Q13418	.;ILK_HUMAN	I	449;315;449;388;449	ENSP00000299421:M449I;ENSP00000439606:M315I;ENSP00000403487:M449I;ENSP00000435323:M388I;ENSP00000379975:M449I	ENSP00000299421:M449I;ENSP00000299421:M449I	M	+	3	0	ILK	6588406	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.869000	0.92326	2.753000	0.94483	0.650000	0.86243	ATG		0.512	ILK-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384519.1	NM_004517		22	33	0	0	0	1	0	22	33					A	6631830	G	A	6631830	3	1	435	1	0	0	0	0	1	0	0	0	7713	1319	46	3	1393	3	ILK	11	6631830	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	42895	6631830	128374686	4999	25924											
TPP1	1200	broad.mit.edu	37	chr11	6638248	6638248	+	De_novo_Start_OutOfFrame	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgctggtgccagagcccacGtcttgtgaggtcaagttgta	7	12	13	9	1	2	2	1	1	1	1	2	2	2	2	2	2	3	3	2	2	2	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:6638248G>A	ENST00000533371.1	-	0	714				TPP1_ENST00000534644.1_5'UTR|RP11-732A19.9_ENST00000545572.1_RNA|TPP1_ENST00000299427.6_Silent_p.D215D			P49638	TTPA_HUMAN	tripeptidyl peptidase I						embryonic placenta development (GO:0001892)|intermembrane transport (GO:0046909)|intracellular pH reduction (GO:0051452)|lipid metabolic process (GO:0006629)|negative regulation of cell death (GO:0060548)|negative regulation of establishment of blood-brain barrier (GO:0090212)|response to nutrient (GO:0007584)|response to pH (GO:0009268)|response to toxic substance (GO:0009636)|transport (GO:0006810)|vitamin E metabolic process (GO:0042360)|vitamin transport (GO:0051180)	cytosol (GO:0005829)|late endosome (GO:0005770)	phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|transporter activity (GO:0005215)|vitamin E binding (GO:0008431)			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(9)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;3.45e-09)|BRCA - Breast invasive adenocarcinoma(625;0.131)	Vitamin E(DB00163)	CAGAGCCCACGTCTTGTGAGG	0.587																																						ENST00000533371.1																			0				breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(9)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23								tripeptidyl peptidase I							126	108	114					11																	6638248		2201	4296	6497			1200				bone resorption|cell death|lipid metabolic process|lysosome organization|nervous system development|neuromuscular process controlling balance|peptide catabolic process|protein catabolic process|proteolysis	lysosome|melanosome|soluble fraction	metal ion binding|peptide binding|protein binding|serine-type endopeptidase activity|tripeptidyl-peptidase activity	g.chr11:6638248G>A	AF017456	CCDS7770.1	11p15.4	2014-09-17	2004-12-09	2004-12-10	ENSG00000166340	ENSG00000166340			2073	protein-coding gene	gene with protein product	"TPP I"	607998	"ceroid-lipofuscinosis, neuronal 2, late infantile (Jansky-Bielschowsky disease)", "spinocerebellar ataxia, autosomal recessive 7"	CLN2, SCAR7		9653647, 23418007	Standard	NM_000391		Approved		uc001mel.1	O14773	OTTHUMG00000133404	ENST00000533371.1:c.-85C>T	11.37:g.6638248G>A						TPP1_ENST00000534644.1_5'UTR|TPP1_ENST00000299427.6_Silent_p.D215D				O14773	TPP1_HUMAN		Epithelial(150;3.45e-09)|BRCA - Breast invasive adenocarcinoma(625;0.131)	0	714	-		Medulloblastoma(188;0.00263)|all_neural(188;0.026)						Q71V64	Translation_Start_Site	SNP	ENST00000533371.1	37																																																																																						0.587	TPP1-003	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000384527.1			17	15	0	0	0	1	0	17	15					A	6638248	G	A	6638248	1	1	435	1	0	1	0	0	0	0	0	0	16408	1136	40	1		1	TPP1	11	6638248	De_novo_Start_OutOfFrame	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	6418	6638248	128368268	5000	25925											
TPP1	8642	broad.mit.edu	37	chr11	6640086	6640086	+	IGR	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttctgctgtctcagggcaaaGgtgagactcagctcttcctc	7	12	10	12	0	4	1	2	1	3	1	7	2	5	1	1	2	2	3	1	2	1	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:6640086G>T	ENST00000299441.3	-	0	10763				TPP1_ENST00000528657.1_3'UTR|TPP1_ENST00000534644.1_Intron|TPP1_ENST00000533371.1_5'UTR|RP11-732A19.9_ENST00000545572.1_RNA|RP11-732A19.5_ENST00000526456.1_RNA|TPP1_ENST00000299427.6_Silent_p.T50T	NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1						branching involved in ureteric bud morphogenesis (GO:0001658)|calcium-dependent cell-cell adhesion (GO:0016339)|cochlea development (GO:0090102)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|neural tube development (GO:0021915)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|post-anal tail morphogenesis (GO:0036342)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TCAGGGCAAAGGTGAGACTCA	0.607																																						ENST00000299427.6																			0				breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(9)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						c.(148-150)acC>acA		tripeptidyl peptidase I							79	72	75					11																	6640086		2201	4296	6497	SO:0001628	intergenic_variant	1200				bone resorption|cell death|lipid metabolic process|lysosome organization|nervous system development|neuromuscular process controlling balance|peptide catabolic process|protein catabolic process|proteolysis	lysosome|melanosome|soluble fraction	metal ion binding|peptide binding|protein binding|serine-type endopeptidase activity|tripeptidyl-peptidase activity	g.chr11:6640086G>T	AB000895	CCDS7771.1	11p15.4	2013-10-04	2013-10-04	2004-09-03	ENSG00000166341	ENSG00000166341		"Cadherins / Cadherin-related"	13681	protein-coding gene	gene with protein product	"cadherin-related family member 6"	603057	"protocadherin 16", "dachsous 1 (Drosophila)"	CDH25, PCDH16		9199196	Standard	XM_005253207		Approved	FIB1, KIAA1773, FLJ11790, CDHR6	uc001mem.1	Q96JQ0	OTTHUMG00000133398		11.37:g.6640086G>T						TPP1_ENST00000528657.1_3'UTR|TPP1_ENST00000534644.1_Intron|RP11-732A19.9_ENST00000545572.1_RNA|TPP1_ENST00000533371.1_5'UTR	p.T50T	NM_000391.3	NP_000382.3	O14773	TPP1_HUMAN		Epithelial(150;3.45e-09)|BRCA - Breast invasive adenocarcinoma(625;0.131)	3	210	-		Medulloblastoma(188;0.00263)|all_neural(188;0.026)	50					O15098	Silent	SNP	ENST00000299441.3	37	c.150C>A	CCDS7771.1																																																																																				0.607	DCHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257258.1	NM_003737		21	23	1	0	3.5997e-14	1	3.92294e-14	21	23					T	6640086	G	T	6640086	1	4	435	0	1	0	0	0	0	0	0	0	16408	987	35	5		5	TPP1	11	6640086	IGR	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	1838	6640086	128366430	5001	25926											
TPP1	8642	broad.mit.edu	37	chr11	6640450	6640450	+	IGR	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ctccgctggtcgggctccggGctgtaactgcatttgccaga	5	10	13	13	3	0	1	0	0	0	1	3	1	2	1	3	3	3	5	3	3	1	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:6640450G>A	ENST00000299441.3	-	0	10763				TPP1_ENST00000528657.1_Silent_p.S22S|TPP1_ENST00000534644.1_5'UTR|TPP1_ENST00000533371.1_5'UTR|RP11-732A19.9_ENST00000545572.1_RNA|RP11-732A19.5_ENST00000526456.1_RNA|TPP1_ENST00000299427.6_Silent_p.S22S	NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1						branching involved in ureteric bud morphogenesis (GO:0001658)|calcium-dependent cell-cell adhesion (GO:0016339)|cochlea development (GO:0090102)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|neural tube development (GO:0021915)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|post-anal tail morphogenesis (GO:0036342)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CGGGCTCCGGGCTGTAACTGC	0.592																																						ENST00000299427.6																			0				breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(9)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						c.(64-66)agC>agT		tripeptidyl peptidase I							82	78	79					11																	6640450		2201	4296	6497	SO:0001628	intergenic_variant	1200				bone resorption|cell death|lipid metabolic process|lysosome organization|nervous system development|neuromuscular process controlling balance|peptide catabolic process|protein catabolic process|proteolysis	lysosome|melanosome|soluble fraction	metal ion binding|peptide binding|protein binding|serine-type endopeptidase activity|tripeptidyl-peptidase activity	g.chr11:6640450G>A	AB000895	CCDS7771.1	11p15.4	2013-10-04	2013-10-04	2004-09-03	ENSG00000166341	ENSG00000166341		"Cadherins / Cadherin-related"	13681	protein-coding gene	gene with protein product	"cadherin-related family member 6"	603057	"protocadherin 16", "dachsous 1 (Drosophila)"	CDH25, PCDH16		9199196	Standard	XM_005253207		Approved	FIB1, KIAA1773, FLJ11790, CDHR6	uc001mem.1	Q96JQ0	OTTHUMG00000133398		11.37:g.6640450G>A						TPP1_ENST00000528657.1_Silent_p.S22S|TPP1_ENST00000534644.1_5'UTR|RP11-732A19.9_ENST00000545572.1_RNA|TPP1_ENST00000533371.1_5'UTR	p.S22S	NM_000391.3	NP_000382.3	O14773	TPP1_HUMAN		Epithelial(150;3.45e-09)|BRCA - Breast invasive adenocarcinoma(625;0.131)	2	126	-		Medulloblastoma(188;0.00263)|all_neural(188;0.026)	22					O15098	Silent	SNP	ENST00000299441.3	37	c.66C>T	CCDS7771.1																																																																																				0.592	DCHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257258.1	NM_003737		11	19	0	0	0	1	0	11	19					A	6640450	G	A	6640450	1	1	435	0	1	0	0	0	0	0	0	0	16408	1194	42	3		3	TPP1	11	6640450	IGR	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	364	6640450	128366066	5002	25927											
DCHS1	8642	broad.mit.edu	37	chr11	6646561	6646561	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagcggtcacactgctcaaaGtccaggggccccgtgaggga	9	6	14	12	2	2	1	2	1	0	0	3	2	3	2	3	4	2	1	3	4	2	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:6646561G>A	ENST00000299441.3	-	19	7425	c.7014C>T	c.(7012-7014)gaC>gaT	p.D2338D		NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	2338	Cadherin 22. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|calcium-dependent cell-cell adhesion (GO:0016339)|cochlea development (GO:0090102)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|neural tube development (GO:0021915)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|post-anal tail morphogenesis (GO:0036342)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ACTGCTCAAAGTCCAGGGGCC	0.612																																						ENST00000299441.3																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103						c.(7012-7014)gaC>gaT		dachsous cadherin-related 1							64	64	64					11																	6646561		2201	4296	6497	SO:0001819	synonymous_variant	8642				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr11:6646561G>A	AB000895	CCDS7771.1	11p15.4	2013-10-04	2013-10-04	2004-09-03	ENSG00000166341	ENSG00000166341		"Cadherins / Cadherin-related"	13681	protein-coding gene	gene with protein product	"cadherin-related family member 6"	603057	"protocadherin 16", "dachsous 1 (Drosophila)"	CDH25, PCDH16		9199196	Standard	XM_005253207		Approved	FIB1, KIAA1773, FLJ11790, CDHR6	uc001mem.1	Q96JQ0	OTTHUMG00000133398	ENST00000299441.3:c.7014C>T	11.37:g.6646561G>A							p.D2338D	NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	19	7425	-		Medulloblastoma(188;0.00263)|all_neural(188;0.026)	2338			Cadherin 22.		O15098	Silent	SNP	ENST00000299441.3	37	c.7014C>T	CCDS7771.1																																																																																				0.612	DCHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257258.1	NM_003737		13	11	0	0	0	1	0	13	11					A	6646561	G	A	6646561	2	1	435	1	0	0	0	0	0	0	0	1	4287	1020	36	3		3	DCHS1	11	6646561	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	6111	6646561	128359955	5003	25928											
ZNF214	7761	broad.mit.edu	37	chr11	7021457	7021457	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatgtactctttgatgagtgTgaagctttgaactcttactg	9	17	9	6	0	2	4	0	4	2	0	2	4	2	4	0	0	4	2	0	0	5	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:7021457T>C	ENST00000278314.4	-	3	1772	c.1457A>G	c.(1456-1458)cAc>cGc	p.H486R	ZNF214_ENST00000536068.1_Missense_Mutation_p.H486R|ZNF214_ENST00000531083.1_5'Flank	NM_013249.2	NP_037381.2	Q9UL59	ZN214_HUMAN	zinc finger protein 214	486					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				Epithelial(150;3.87e-08)|BRCA - Breast invasive adenocarcinoma(625;0.081)		TTGATGAGTGTGAAGCTTTGA	0.453																																					Ovarian(22;251 657 736 21522 46864)	ENST00000278314.4																			0				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(1456-1458)cAc>cGc		zinc finger protein 214							89	94	92					11																	7021457		2200	4295	6495	SO:0001583	missense	0				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr11:7021457T>C	AF056617	CCDS31418.1	11p15.4	2013-01-08				ENSG00000149050		"Zinc fingers, C2H2-type", "-"	13006	protein-coding gene	gene with protein product		605015					Standard	NM_013249		Approved		uc001mfa.2	Q9UL59		ENST00000278314.4:c.1457A>G	11.37:g.7021457T>C	ENSP00000278314:p.His486Arg					ZNF214_ENST00000536068.1_Missense_Mutation_p.H486R	p.H486R	NM_013249.2	NP_037381.2	Q9UL59	ZN214_HUMAN		Epithelial(150;3.87e-08)|BRCA - Breast invasive adenocarcinoma(625;0.081)	3	1772	-			486					B2R8Q1	Missense_Mutation	SNP	ENST00000278314.4	37	c.1457A>G	CCDS31418.1	.	.	.	.	.	.	.	.	.	.	T	0.552	-0.849078	0.02651	.	.	ENSG00000149050	ENST00000278314;ENST00000536068	T;T	0.30182	1.54;1.54	4.05	1.5	0.22942	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.302543	0.24120	N	0.041369	T	0.07638	0.0192	N	0.00864	-1.135	0.21355	N	0.999718	B	0.32604	0.377	B	0.27262	0.078	T	0.31138	-0.9954	10	0.22706	T	0.39	.	7.3238	0.26542	0.542:0.0:0.0:0.458	.	486	Q9UL59	ZN214_HUMAN	R	486	ENSP00000278314:H486R;ENSP00000445373:H486R	ENSP00000278314:H486R	H	-	2	0	ZNF214	6978033	0.000000	0.05858	0.983000	0.44433	0.996000	0.88848	-0.426000	0.07008	0.279000	0.22186	0.459000	0.35465	CAC		0.453	ZNF214-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385349.1			45	44	0	0	0	1	0	45	44					C	7021457	T	C	7021457	3	2	435	1	0	0	0	0	1	0	0	0	17767	1696	59	4	367	4	ZNF214	11	7021457	Missense_Mutation	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	374896	7021457	127985059	5004	25929											
ZNF214	7761	broad.mit.edu	37	chr11	7022150	7022150	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agtctgatctctgagagaagCatgctttacagatggagcat	12	11	11	7	0	2	4	0	2	2	2	3	6	2	5	0	1	4	3	0	1	2	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:7022150C>T	ENST00000278314.4	-	3	1079	c.764G>A	c.(763-765)tGc>tAc	p.C255Y	ZNF214_ENST00000536068.1_Missense_Mutation_p.C255Y|ZNF214_ENST00000531083.1_5'Flank	NM_013249.2	NP_037381.2	Q9UL59	ZN214_HUMAN	zinc finger protein 214	255					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				Epithelial(150;3.87e-08)|BRCA - Breast invasive adenocarcinoma(625;0.081)		CTGAGAGAAGCATGCTTTACA	0.398																																					Ovarian(22;251 657 736 21522 46864)	ENST00000278314.4																			0				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(763-765)tGc>tAc		zinc finger protein 214							108	102	104					11																	7022150		2201	4296	6497	SO:0001583	missense	0				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr11:7022150C>T	AF056617	CCDS31418.1	11p15.4	2013-01-08				ENSG00000149050		"Zinc fingers, C2H2-type", "-"	13006	protein-coding gene	gene with protein product		605015					Standard	NM_013249		Approved		uc001mfa.2	Q9UL59		ENST00000278314.4:c.764G>A	11.37:g.7022150C>T	ENSP00000278314:p.Cys255Tyr					ZNF214_ENST00000536068.1_Missense_Mutation_p.C255Y	p.C255Y	NM_013249.2	NP_037381.2	Q9UL59	ZN214_HUMAN		Epithelial(150;3.87e-08)|BRCA - Breast invasive adenocarcinoma(625;0.081)	3	1079	-			255					B2R8Q1	Missense_Mutation	SNP	ENST00000278314.4	37	c.764G>A	CCDS31418.1	.	.	.	.	.	.	.	.	.	.	C	0.017	-1.489297	0.01018	.	.	ENSG00000149050	ENST00000278314;ENST00000536068	T;T	0.14766	2.48;2.48	3.75	0.743	0.18347	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	1.352740	0.04818	N	0.436502	T	0.16685	0.0401	M	0.66378	2.025	0.09310	N	1	B	0.18461	0.028	B	0.14023	0.01	T	0.35895	-0.9770	10	0.66056	D	0.02	.	4.5705	0.12207	0.1917:0.6042:0.0:0.2041	.	255	Q9UL59	ZN214_HUMAN	Y	255	ENSP00000278314:C255Y;ENSP00000445373:C255Y	ENSP00000278314:C255Y	C	-	2	0	ZNF214	6978726	0.000000	0.05858	0.095000	0.20976	0.087000	0.18053	-0.051000	0.11885	0.158000	0.19367	-0.284000	0.09977	TGC		0.398	ZNF214-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385349.1			30	66	0	0	0	1	0	30	66					T	7022150	C	T	7022150	3	4	435	1	0	0	0	0	1	0	0	0	17767	710	25	3	1060	3	ZNF214	11	7022150	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	693	7022150	127984366	5005	25930											
NLRP14	338323	broad.mit.edu	37	chr11	7059988	7059988	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aagaaggccaggcgggaggaCctggccaatttgatgaagaa	14	5	15	7	1	0	4	0	2	0	2	0	6	0	6	3	5	0	0	3	5	5	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:7059988C>T	ENST00000299481.4	+	2	517	c.171C>T	c.(169-171)gaC>gaT	p.D57D		NM_176822.3	NP_789792.1	Q86W24	NAL14_HUMAN	NLR family, pyrin domain containing 14	57	DAPIN. {ECO:0000255|PROSITE- ProRule:PRU00061}.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)		ATP binding (GO:0005524)			breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	21				Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)		GGCGGGAGGACCTGGCCAATT	0.453																																						ENST00000299481.4																			0				breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	21						c.(169-171)gaC>gaT		NLR family, pyrin domain containing 14							58	64	62					11																	7059988		2201	4296	6497	SO:0001819	synonymous_variant	338323				cell differentiation|multicellular organismal development|spermatogenesis		ATP binding	g.chr11:7059988C>T	BK001107	CCDS7776.1	11p15.4	2006-12-08	2006-12-08	2006-12-08		ENSG00000158077		"Nucleotide-binding domain and leucine rich repeat containing"	22939	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 14"	609665	"NACHT, leucine rich repeat and PYD containing 14"	NALP14		12563287	Standard	NM_176822		Approved	NOD5, GC-LRR, Nalp-iota, PAN8, CLR11.2	uc001mfb.1	Q86W24		ENST00000299481.4:c.171C>T	11.37:g.7059988C>T							p.D57D	NM_176822.3	NP_789792.1	Q86W24	NAL14_HUMAN		Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)	2	517	+			57			DAPIN.		Q7RTR6	Silent	SNP	ENST00000299481.4	37	c.171C>T	CCDS7776.1																																																																																				0.453	NLRP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384551.1	NM_176822		12	29	0	0	0	1	0	12	29					T	7059988	C	T	7059988	2	4	435	1	0	0	0	0	0	0	0	1	10476	506	18	3		3	NLRP14	11	7059988	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	37838	7059988	127946528	5006	25931											
NLRP14	338323	broad.mit.edu	37	chr11	7060964	7060964	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggtcggcccagactataggAccagatgatgccaaggctgg	10	6	15	10	1	0	3	0	1	0	2	1	4	0	4	3	5	1	1	3	5	3	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:7060964A>G	ENST00000299481.4	+	3	655	c.309A>G	c.(307-309)ggA>ggG	p.G103G		NM_176822.3	NP_789792.1	Q86W24	NAL14_HUMAN	NLR family, pyrin domain containing 14	103					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)		ATP binding (GO:0005524)			breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	21				Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)		AGACTATAGGACCAGATGATG	0.468																																						ENST00000299481.4																			0				breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	21						c.(307-309)ggA>ggG		NLR family, pyrin domain containing 14							195	189	191					11																	7060964		2201	4296	6497	SO:0001819	synonymous_variant	338323				cell differentiation|multicellular organismal development|spermatogenesis		ATP binding	g.chr11:7060964A>G	BK001107	CCDS7776.1	11p15.4	2006-12-08	2006-12-08	2006-12-08		ENSG00000158077		"Nucleotide-binding domain and leucine rich repeat containing"	22939	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 14"	609665	"NACHT, leucine rich repeat and PYD containing 14"	NALP14		12563287	Standard	NM_176822		Approved	NOD5, GC-LRR, Nalp-iota, PAN8, CLR11.2	uc001mfb.1	Q86W24		ENST00000299481.4:c.309A>G	11.37:g.7060964A>G							p.G103G	NM_176822.3	NP_789792.1	Q86W24	NAL14_HUMAN		Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)	3	655	+			103					Q7RTR6	Silent	SNP	ENST00000299481.4	37	c.309A>G	CCDS7776.1																																																																																				0.468	NLRP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384551.1	NM_176822		17	39	0	0	0	1	0	17	39					G	7060964	A	G	7060964	2	3	435	1	0	0	0	0	0	0	0	1	10476	262	10	4		4	NLRP14	11	7060964	Silent	SNP	A	TCGA-XK-AAIW-01A-11D-A41K-08	976	7060964	127945552	5007	25932											
NLRP14	338323	broad.mit.edu	37	chr11	7064751	7064751	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tatatgttgaaaggcagttgGgaagctgggaacccttcctg	10	11	13	7	0	0	1	0	1	0	0	1	3	1	3	2	3	2	4	2	3	5	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:7064751G>A	ENST00000299481.4	+	4	1840	c.1494G>A	c.(1492-1494)tgG>tgA	p.W498*		NM_176822.3	NP_789792.1	Q86W24	NAL14_HUMAN	NLR family, pyrin domain containing 14	498	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)		ATP binding (GO:0005524)			breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	21				Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)		AAGGCAGTTGGGAAGCTGGGA	0.413																																						ENST00000299481.4																			0				breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	21						c.(1492-1494)tgG>tgA		NLR family, pyrin domain containing 14							64	68	66					11																	7064751		2201	4296	6497	SO:0001587	stop_gained	338323				cell differentiation|multicellular organismal development|spermatogenesis		ATP binding	g.chr11:7064751G>A	BK001107	CCDS7776.1	11p15.4	2006-12-08	2006-12-08	2006-12-08		ENSG00000158077		"Nucleotide-binding domain and leucine rich repeat containing"	22939	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 14"	609665	"NACHT, leucine rich repeat and PYD containing 14"	NALP14		12563287	Standard	NM_176822		Approved	NOD5, GC-LRR, Nalp-iota, PAN8, CLR11.2	uc001mfb.1	Q86W24		ENST00000299481.4:c.1494G>A	11.37:g.7064751G>A	ENSP00000299481:p.Trp498*						p.W498*	NM_176822.3	NP_789792.1	Q86W24	NAL14_HUMAN		Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)	4	1840	+			498			NACHT.		Q7RTR6	Nonsense_Mutation	SNP	ENST00000299481.4	37	c.1494G>A	CCDS7776.1	.	.	.	.	.	.	.	.	.	.	G	26.9	4.778614	0.90195	.	.	ENSG00000158077	ENST00000299481	.	.	.	4.42	2.51	0.30379	.	0.883804	0.09571	N	0.784209	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.42905	T	0.14	.	5.2304	0.15418	0.3403:0.0:0.6597:0.0	.	.	.	.	X	498	.	ENSP00000299481:W498X	W	+	3	0	NLRP14	7021327	0.473000	0.25878	0.031000	0.17742	0.035000	0.12851	1.874000	0.39568	1.192000	0.43071	0.563000	0.77884	TGG		0.413	NLRP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384551.1	NM_176822		21	44	0	0	0	1	0	21	44					A	7064751	G	A	7064751	4	1	435	1	0	0	0	0	0	1	0	0	10476	1241	43	3	1504	3	NLRP14	11	7064751	Nonsense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	3787	7064751	127941765	5008	25933											
NLRP14	338323	broad.mit.edu	37	chr11	7067910	7067910	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tatgcaaagggatggtgatcGcattactcactgttggcaag	11	11	12	7	1	1	1	1	1	0	0	2	2	1	2	0	3	2	4	0	3	4	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:7067910G>A	ENST00000299481.4	+	5	2316	c.1970G>A	c.(1969-1971)cGc>cAc	p.R657H		NM_176822.3	NP_789792.1	Q86W24	NAL14_HUMAN	NLR family, pyrin domain containing 14	657					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)		ATP binding (GO:0005524)	p.R657H(2)		breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	21				Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)		GATGGTGATCGCATTACTCAC	0.373																																						ENST00000299481.4																			2	Substitution - Missense(2)	p.R657H(2)	large_intestine(2)	breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	21						c.(1969-1971)cGc>cAc		NLR family, pyrin domain containing 14							227	196	206					11																	7067910		2201	4296	6497	SO:0001583	missense	338323				cell differentiation|multicellular organismal development|spermatogenesis		ATP binding	g.chr11:7067910G>A	BK001107	CCDS7776.1	11p15.4	2006-12-08	2006-12-08	2006-12-08		ENSG00000158077		"Nucleotide-binding domain and leucine rich repeat containing"	22939	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 14"	609665	"NACHT, leucine rich repeat and PYD containing 14"	NALP14		12563287	Standard	NM_176822		Approved	NOD5, GC-LRR, Nalp-iota, PAN8, CLR11.2	uc001mfb.1	Q86W24		ENST00000299481.4:c.1970G>A	11.37:g.7067910G>A	ENSP00000299481:p.Arg657His						p.R657H	NM_176822.3	NP_789792.1	Q86W24	NAL14_HUMAN		Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)	5	2316	+			657					Q7RTR6	Missense_Mutation	SNP	ENST00000299481.4	37	c.1970G>A	CCDS7776.1	.	.	.	.	.	.	.	.	.	.	G	7.837	0.721116	0.15372	.	.	ENSG00000158077	ENST00000299481	D	0.89343	-2.5	3.99	-7.98	0.01135	.	1.873340	0.03014	N	0.149773	T	0.74596	0.3737	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.66540	-0.5898	10	0.15066	T	0.55	.	5.9816	0.19411	0.71:0.0895:0.1027:0.0978	.	657	Q86W24	NAL14_HUMAN	H	657	ENSP00000299481:R657H	ENSP00000299481:R657H	R	+	2	0	NLRP14	7024486	0.000000	0.05858	0.000000	0.03702	0.089000	0.18198	-3.243000	0.00543	-2.789000	0.00357	-0.991000	0.02546	CGC		0.373	NLRP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384551.1	NM_176822		53	79	0	0	0	1	0	53	79					A	7067910	G	A	7067910	3	1	435	1	0	0	0	0	1	0	0	0	10476	1087	38	1	1984	1	NLRP14	11	7067910	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	3159	7067910	127938606	5009	25934											
RBMXL2	27288	broad.mit.edu	37	chr11	7111074	7111074	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccggagagtacacccaccgCgattacggccactccagtgt	9	6	10	16	4	0	1	0	0	0	1	1	3	1	1	5	2	2	1	5	2	2	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:7111074C>T	ENST00000306904.5	+	1	910	c.723C>T	c.(721-723)cgC>cgT	p.R241R		NM_014469.4	NP_055284.3	O75526	RMXL2_HUMAN	RNA binding motif protein, X-linked-like 2	241	Arg/Gly/Pro-rich.					nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15				Epithelial(150;5.14e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		ACACCCACCGCGATTACGGCC	0.657																																						ENST00000306904.5																			0				NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15						c.(721-723)cgC>cgT		RNA binding motif protein, X-linked-like 2							22	24	23					11																	7111074		2193	4277	6470	SO:0001819	synonymous_variant	27288					nucleus|ribonucleoprotein complex	nucleotide binding|RNA binding	g.chr11:7111074C>T	AF069682	CCDS7777.1	11p15	2013-07-16				ENSG00000170748		"RNA binding motif (RRM) containing"	17886	protein-coding gene	gene with protein product	"heterogeneous nuclear ribonucleoprotein G T"	605444				10958650	Standard	NM_014469		Approved	HNRNPG-T, HNRPGT	uc001mfc.2	O75526		ENST00000306904.5:c.723C>T	11.37:g.7111074C>T							p.R241R	NM_014469.4	NP_055284.3	O75526	HNRGT_HUMAN		Epithelial(150;5.14e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)	1	910	+			241			Arg/Gly/Pro-rich.		Q6PEZ2|Q9NQU0	Silent	SNP	ENST00000306904.5	37	c.723C>T	CCDS7777.1																																																																																				0.657	RBMXL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384552.1	NM_014469		9	18	0	0	0	1	0	9	18					T	7111074	C	T	7111074	2	4	435	1	0	0	0	0	0	0	0	1	13154	755	27	1		1	RBMXL2	11	7111074	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	43164	7111074	127895442	5010	25935											
SYT9	143425	broad.mit.edu	37	chr11	7334785	7334785	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gggagacggagtaacagcaaGgcttgtgggaaactgaactt	13	7	15	6	1	0	2	0	1	0	1	0	5	0	4	0	4	4	3	0	4	4	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:7334785G>A	ENST00000318881.6	+	3	894	c.657G>A	c.(655-657)aaG>aaA	p.K219K	SYT9_ENST00000396716.2_Silent_p.K187K	NM_175733.3	NP_783860.1	Q86SS6	SYT9_HUMAN	synaptotagmin IX	219					positive regulation of calcium ion-dependent exocytosis (GO:0045956)|regulation of insulin secretion (GO:0050796)	cell junction (GO:0030054)|dense core granule (GO:0031045)|integral component of membrane (GO:0016021)|secretory granule membrane (GO:0030667)|synaptic vesicle (GO:0008021)	metal ion binding (GO:0046872)|transporter activity (GO:0005215)			NS(1)|endometrium(2)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	38				Epithelial(150;1.34e-07)|LUSC - Lung squamous cell carcinoma(625;0.0949)		GTAACAGCAAGGCTTGTGGGA	0.398																																						ENST00000318881.6																			0				NS(1)|endometrium(2)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	38						c.(655-657)aaG>aaA		synaptotagmin IX							139	141	140					11																	7334785		2201	4296	6497	SO:0001819	synonymous_variant	143425					cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity	g.chr11:7334785G>A	AK055003	CCDS7778.1	11p15.4	2013-01-21			ENSG00000170743	ENSG00000170743		"Synaptotagmins"	19265	protein-coding gene	gene with protein product		613528				11543631	Standard	NM_175733		Approved		uc001mfe.3	Q86SS6	OTTHUMG00000165499	ENST00000318881.6:c.657G>A	11.37:g.7334785G>A						SYT9_ENST00000396716.2_Silent_p.K187K	p.K219K	NM_175733.3	NP_783860.1	Q86SS6	SYT9_HUMAN		Epithelial(150;1.34e-07)|LUSC - Lung squamous cell carcinoma(625;0.0949)	3	894	+			219						Silent	SNP	ENST00000318881.6	37	c.657G>A	CCDS7778.1																																																																																				0.398	SYT9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384483.1	NM_175733		33	55	0	0	0	1	0	33	55					A	7334785	G	A	7334785	2	1	435	1	0	0	0	0	0	0	0	1	15478	991	35	3		3	SYT9	11	7334785	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	223711	7334785	127671731	5011	25936											
PPFIBP2	8495	broad.mit.edu	37	chr11	7672925	7672925	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	actggggacaccctggctatGcttctcaacatccccccaca	9	8	7	17	0	1	0	1	0	1	0	3	1	2	1	4	3	2	2	4	3	2	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:7672925G>A	ENST00000299492.4	+	23	2674	c.2286G>A	c.(2284-2286)atG>atA	p.M762I	PPFIBP2_ENST00000530181.1_Missense_Mutation_p.M619I|PPFIBP2_ENST00000528883.1_Missense_Mutation_p.M650I|PPFIBP2_ENST00000533792.1_Missense_Mutation_p.M604I|PPFIBP2_ENST00000530582.1_3'UTR	NM_003621.3	NP_003612	Q8ND30	LIPB2_HUMAN	PTPRF interacting protein, binding protein 2 (liprin beta 2)	762	SAM 3. {ECO:0000255|PROSITE- ProRule:PRU00184}.				cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|intracellular (GO:0005622)|presynaptic active zone (GO:0048786)	DNA binding (GO:0003677)|integrase activity (GO:0008907)			breast(8)|cervix(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32				Epithelial(150;2.01e-07)|BRCA - Breast invasive adenocarcinoma(625;0.236)		CCCTGGCTATGCTTCTCAACA	0.562																																						ENST00000299492.4																			0				breast(8)|cervix(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32						c.(2284-2286)atG>atA		PTPRF interacting protein, binding protein 2 (liprin beta 2)							127	111	116					11																	7672925		2201	4296	6497	SO:0001583	missense	8495				cell communication|DNA integration	intracellular	DNA binding|integrase activity|protein binding	g.chr11:7672925G>A	AF034803	CCDS31419.1, CCDS58116.1, CCDS58117.1	11p15.4	2013-01-10			ENSG00000166387	ENSG00000166387		"Sterile alpha motif (SAM) domain containing"	9250	protein-coding gene	gene with protein product		603142				9624153	Standard	NM_003621		Approved	Cclp1	uc001mfj.5	Q8ND30	OTTHUMG00000165617	ENST00000299492.4:c.2286G>A	11.37:g.7672925G>A	ENSP00000299492:p.Met762Ile					PPFIBP2_ENST00000530181.1_Missense_Mutation_p.M619I|PPFIBP2_ENST00000530582.1_3'UTR|PPFIBP2_ENST00000533792.1_Missense_Mutation_p.M604I|PPFIBP2_ENST00000528883.1_Missense_Mutation_p.M650I	p.M762I	NM_003621.3	NP_003612.2	Q8ND30	LIPB2_HUMAN		Epithelial(150;2.01e-07)|BRCA - Breast invasive adenocarcinoma(625;0.236)	23	2674	+			762			SAM 3.		B7Z433|E9PK77|O75337|Q8WW26	Missense_Mutation	SNP	ENST00000299492.4	37	c.2286G>A	CCDS31419.1	.	.	.	.	.	.	.	.	.	.	G	23.5	4.423291	0.83559	.	.	ENSG00000166387	ENST00000299492;ENST00000537211;ENST00000533792;ENST00000541115;ENST00000528883;ENST00000530181	T;T;T;T	0.40756	1.02;1.02;1.02;1.02	5.77	5.77	0.91146	Sterile alpha motif domain (1);Sterile alpha motif/pointed domain (1);Sterile alpha motif, type 2 (1);	0.057275	0.64402	D	0.000001	T	0.46347	0.1388	N	0.08118	0	0.54753	D	0.999985	D;D;P;D;D;P	0.60575	0.986;0.985;0.928;0.987;0.988;0.948	D;P;P;P;D;P	0.74348	0.91;0.782;0.671;0.864;0.983;0.718	T	0.54323	-0.8311	10	0.54805	T	0.06	-19.7886	17.8364	0.88699	0.0:0.0:1.0:0.0	.	650;650;685;604;619;762	E9PK77;B7Z433;F5GWB0;E9PP16;E9PMU1;Q8ND30	.;.;.;.;.;LIPB2_HUMAN	I	762;103;604;685;650;619	ENSP00000299492:M762I;ENSP00000436498:M604I;ENSP00000435469:M650I;ENSP00000437321:M619I	ENSP00000299492:M762I	M	+	3	0	PPFIBP2	7629501	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.891000	0.87319	2.884000	0.98904	0.655000	0.94253	ATG		0.562	PPFIBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385345.2	NM_003621		35	47	0	0	0	1	0	35	47					A	7672925	G	A	7672925	3	1	435	1	0	0	0	0	1	0	0	0	12314	1319	46	3	2372	3	PPFIBP2	11	7672925	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	338140	7672925	127333591	5012	25937											
PPFIBP2	8495	broad.mit.edu	37	chr11	7673019	7673019	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cggaggctgaacaggagaagCgagagaaaatggcctcacca	15	3	14	9	2	1	3	1	1	0	2	1	7	1	4	2	4	2	1	2	4	4	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:7673019C>T	ENST00000299492.4	+	23	2768	c.2380C>T	c.(2380-2382)Cga>Tga	p.R794*	PPFIBP2_ENST00000530181.1_Nonsense_Mutation_p.R651*|PPFIBP2_ENST00000528883.1_Nonsense_Mutation_p.R682*|PPFIBP2_ENST00000533792.1_Nonsense_Mutation_p.R636*|PPFIBP2_ENST00000530582.1_3'UTR	NM_003621.3	NP_003612	Q8ND30	LIPB2_HUMAN	PTPRF interacting protein, binding protein 2 (liprin beta 2)	794					cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|intracellular (GO:0005622)|presynaptic active zone (GO:0048786)	DNA binding (GO:0003677)|integrase activity (GO:0008907)			breast(8)|cervix(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32				Epithelial(150;2.01e-07)|BRCA - Breast invasive adenocarcinoma(625;0.236)		ACAGGAGAAGCGAGAGAAAAT	0.582																																						ENST00000299492.4																			0				breast(8)|cervix(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32						c.(2380-2382)Cga>Tga		PTPRF interacting protein, binding protein 2 (liprin beta 2)							134	128	130					11																	7673019		2201	4296	6497	SO:0001587	stop_gained	8495				cell communication|DNA integration	intracellular	DNA binding|integrase activity|protein binding	g.chr11:7673019C>T	AF034803	CCDS31419.1, CCDS58116.1, CCDS58117.1	11p15.4	2013-01-10			ENSG00000166387	ENSG00000166387		"Sterile alpha motif (SAM) domain containing"	9250	protein-coding gene	gene with protein product		603142				9624153	Standard	NM_003621		Approved	Cclp1	uc001mfj.5	Q8ND30	OTTHUMG00000165617	ENST00000299492.4:c.2380C>T	11.37:g.7673019C>T	ENSP00000299492:p.Arg794*					PPFIBP2_ENST00000530181.1_Nonsense_Mutation_p.R651*|PPFIBP2_ENST00000530582.1_3'UTR|PPFIBP2_ENST00000533792.1_Nonsense_Mutation_p.R636*|PPFIBP2_ENST00000528883.1_Nonsense_Mutation_p.R682*	p.R794*	NM_003621.3	NP_003612.2	Q8ND30	LIPB2_HUMAN		Epithelial(150;2.01e-07)|BRCA - Breast invasive adenocarcinoma(625;0.236)	23	2768	+			794					B7Z433|E9PK77|O75337|Q8WW26	Nonsense_Mutation	SNP	ENST00000299492.4	37	c.2380C>T	CCDS31419.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	40|40	8.192011|8.192011	0.98699|0.98699	.|.	.|.	ENSG00000166387|ENSG00000166387	ENST00000534552|ENST00000299492;ENST00000537211;ENST00000533792;ENST00000541115;ENST00000528883;ENST00000530181	.|.	.|.	.|.	5.77|5.77	4.75|4.75	0.60458|0.60458	.|.	.|0.000000	.|0.64402	.|D	.|0.000007	T|.	0.26231|.	0.0640|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.22521|.	-1.0214|.	3|.	.|0.02654	.|T	.|1	-10.6557|-10.6557	11.0219|11.0219	0.47722|0.47722	0.2942:0.7058:0.0:0.0|0.2942:0.7058:0.0:0.0	.|.	.|.	.|.	.|.	V|X	25|794;135;636;717;682;651	.|.	.|ENSP00000299492:R794X	A|R	+|+	2|1	0|2	PPFIBP2|PPFIBP2	7629595|7629595	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.833000|0.833000	0.47200|0.47200	2.748000|2.748000	0.47483|0.47483	2.884000|2.884000	0.98904|0.98904	0.655000|0.655000	0.94253|0.94253	GCG|CGA		0.582	PPFIBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385345.2	NM_003621		31	30	0	0	0	1	0	31	30					T	7673019	C	T	7673019	4	4	435	1	0	0	0	0	0	1	0	0	12314	760	27	1	2466	1	PPFIBP2	11	7673019	Nonsense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	94	7673019	127333497	5013	25938											
PPFIBP2	8495	broad.mit.edu	37	chr11	7674414	7674414	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcccccttgatgcccctgaaCtggatgggctggaccaggtg	6	8	14	13	0	0	2	0	2	0	0	0	4	0	4	5	4	2	1	5	4	1	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:7674414C>A	ENST00000299492.4	+	24	2984	c.2596C>A	c.(2596-2598)Ctg>Atg	p.L866M	PPFIBP2_ENST00000530181.1_Missense_Mutation_p.L723M|PPFIBP2_ENST00000528883.1_Missense_Mutation_p.L754M|PPFIBP2_ENST00000533792.1_Missense_Mutation_p.L708M|PPFIBP2_ENST00000530582.1_3'UTR	NM_003621.3	NP_003612	Q8ND30	LIPB2_HUMAN	PTPRF interacting protein, binding protein 2 (liprin beta 2)	866					cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|intracellular (GO:0005622)|presynaptic active zone (GO:0048786)	DNA binding (GO:0003677)|integrase activity (GO:0008907)			breast(8)|cervix(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32				Epithelial(150;2.01e-07)|BRCA - Breast invasive adenocarcinoma(625;0.236)		TGCCCCTGAACTGGATGGGCT	0.572																																						ENST00000299492.4																			0				breast(8)|cervix(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32						c.(2596-2598)Ctg>Atg		PTPRF interacting protein, binding protein 2 (liprin beta 2)							101	80	87					11																	7674414		2201	4296	6497	SO:0001583	missense	8495				cell communication|DNA integration	intracellular	DNA binding|integrase activity|protein binding	g.chr11:7674414C>A	AF034803	CCDS31419.1, CCDS58116.1, CCDS58117.1	11p15.4	2013-01-10			ENSG00000166387	ENSG00000166387		"Sterile alpha motif (SAM) domain containing"	9250	protein-coding gene	gene with protein product		603142				9624153	Standard	NM_003621		Approved	Cclp1	uc001mfj.5	Q8ND30	OTTHUMG00000165617	ENST00000299492.4:c.2596C>A	11.37:g.7674414C>A	ENSP00000299492:p.Leu866Met					PPFIBP2_ENST00000530181.1_Missense_Mutation_p.L723M|PPFIBP2_ENST00000530582.1_3'UTR|PPFIBP2_ENST00000533792.1_Missense_Mutation_p.L708M|PPFIBP2_ENST00000528883.1_Missense_Mutation_p.L754M	p.L866M	NM_003621.3	NP_003612.2	Q8ND30	LIPB2_HUMAN		Epithelial(150;2.01e-07)|BRCA - Breast invasive adenocarcinoma(625;0.236)	24	2984	+			866					B7Z433|E9PK77|O75337|Q8WW26	Missense_Mutation	SNP	ENST00000299492.4	37	c.2596C>A	CCDS31419.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.09|18.09	3.546589|3.546589	0.65198|0.65198	.|.	.|.	ENSG00000166387|ENSG00000166387	ENST00000299492;ENST00000537211;ENST00000533792;ENST00000528883;ENST00000530181|ENST00000534552	T;T;T;T|.	0.35973|.	1.71;1.3;1.71;1.28|.	6.03|6.03	3.12|3.12	0.35913|0.35913	.|.	0.549006|.	0.17073|.	N|.	0.188090|.	T|T	0.52948|0.52948	0.1766|0.1766	M|M	0.74881|0.74881	2.28|2.28	0.28687|0.28687	N|N	0.904814|0.904814	P;P;P;P;P|.	0.46706|.	0.71;0.808;0.747;0.883;0.684|.	B;B;P;P;B|.	0.45971|.	0.264;0.347;0.499;0.499;0.352|.	T|T	0.50074|0.50074	-0.8870|-0.8870	10|5	0.72032|.	D|.	0.01|.	-0.2363|-0.2363	6.2187|6.2187	0.20669|0.20669	0.1327:0.6471:0.1471:0.0731|0.1327:0.6471:0.1471:0.0731	.|.	754;754;708;723;866|.	E9PK77;B7Z433;E9PP16;E9PMU1;Q8ND30|.	.;.;.;.;LIPB2_HUMAN|.	M|N	866;207;708;754;723|97	ENSP00000299492:L866M;ENSP00000436498:L708M;ENSP00000435469:L754M;ENSP00000437321:L723M|.	ENSP00000299492:L866M|.	L|T	+|+	1|2	2|0	PPFIBP2|PPFIBP2	7630990|7630990	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	1.123000|1.123000	0.31308|0.31308	0.408000|0.408000	0.25621|0.25621	0.655000|0.655000	0.94253|0.94253	CTG|ACT		0.572	PPFIBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385345.2	NM_003621		20	33	1	0	1.01871e-10	1	1.09092e-10	20	33					A	7674414	C	A	7674414	3	1	435	1	0	0	0	0	1	0	0	0	12314	564	20	5	2686	5	PPFIBP2	11	7674414	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	1395	7674414	127332102	5014	25939											
EIF3F	8665	broad.mit.edu	37	chr11	8013378	8013378	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaattgcttttcagtgccgCacaatgagtcagaagatgaa	13	10	9	9	1	2	4	2	2	0	2	2	4	2	4	2	0	2	2	2	0	4	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:8013378C>T	ENST00000533626.1	+	4	1041	c.415C>T	c.(415-417)Cac>Tac	p.H139Y	EIF3F_ENST00000537635.1_Missense_Mutation_p.H154Y|EIF3F_ENST00000309828.4_Missense_Mutation_p.H139Y|EIF3F_ENST00000449102.2_Intron					eukaryotic translation initiation factor 3, subunit F											endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|skin(1)	13				Epithelial(150;1.44e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		TTCAGTGCCGCACAATGAGTC	0.498																																						ENST00000533626.1																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|skin(1)	13						c.(415-417)Cac>Tac		eukaryotic translation initiation factor 3, subunit F							170	158	162					11																	8013378		2201	4296	6497	SO:0001583	missense	8665					cytosol|eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity	g.chr11:8013378C>T	U94855, AK093511	CCDS7785.1	11p15.4	2010-03-10	2007-07-27	2007-07-27	ENSG00000175390	ENSG00000175390			3275	protein-coding gene	gene with protein product		603914	"eukaryotic translation initiation factor 3, subunit 5 epsilon, 47kDa"	EIF3S5		9341143	Standard	NM_003754		Approved	eIF3-epsilon, eIF3-p47, eIF3f	uc001mfw.3	O00303		ENST00000533626.1:c.415C>T	11.37:g.8013378C>T	ENSP00000431800:p.His139Tyr					EIF3F_ENST00000537635.1_Missense_Mutation_p.H154Y|EIF3F_ENST00000449102.2_Intron|EIF3F_ENST00000309828.4_Missense_Mutation_p.H139Y	p.H139Y			O00303	EIF3F_HUMAN		Epithelial(150;1.44e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)	4	1041	+			139			MPN.			Missense_Mutation	SNP	ENST00000533626.1	37	c.415C>T	CCDS7785.1	.	.	.	.	.	.	.	.	.	.	C	17.48	3.399187	0.62177	.	.	ENSG00000175390	ENST00000533626;ENST00000537635;ENST00000309828;ENST00000538607	T;T;T	0.54866	0.55;0.55;0.55	4.39	4.39	0.52855	.	0.000000	0.85682	D	0.000000	T	0.57431	0.2053	M	0.70275	2.135	0.80722	D	1	B	0.26400	0.148	B	0.34590	0.186	T	0.61840	-0.6980	10	0.54805	T	0.06	-10.7365	15.2924	0.73875	0.0:1.0:0.0:0.0	.	139	O00303	EIF3F_HUMAN	Y	139;154;139;89	ENSP00000431800:H139Y;ENSP00000442283:H154Y;ENSP00000310040:H139Y	ENSP00000310040:H139Y	H	+	1	0	EIF3F	7969954	1.000000	0.71417	0.989000	0.46669	0.992000	0.81027	7.390000	0.79816	2.380000	0.81148	0.655000	0.94253	CAC		0.498	EIF3F-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000385713.2	NM_003754		23	60	0	0	0	1	0	23	60					T	8013378	C	T	8013378	3	4	435	1	0	0	0	0	1	0	0	0	5016	710	25	3	421	3	EIF3F	11	8013378	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	338964	8013378	126993138	5015	25940											
EIF3F	8665	broad.mit.edu	37	chr11	8017564	8017564	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaatgaaaaacttgtaaacCtgtgaatggaccccaagcag	16	8	8	9	0	1	2	1	2	0	0	1	3	1	3	3	1	3	2	3	1	7	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:8017564C>A	ENST00000533626.1	+	10	1695	c.1069C>A	c.(1069-1071)Ctg>Atg	p.L357M	EIF3F_ENST00000537635.1_Missense_Mutation_p.L372M|EIF3F_ENST00000309828.4_Missense_Mutation_p.L357M|EIF3F_ENST00000449102.2_Missense_Mutation_p.L208M					eukaryotic translation initiation factor 3, subunit F											endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|skin(1)	13				Epithelial(150;1.44e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		ACTTGTAAACCTGTGAATGGA	0.453																																						ENST00000533626.1																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|skin(1)	13						c.(1069-1071)Ctg>Atg		eukaryotic translation initiation factor 3, subunit F							127	127	127					11																	8017564		2201	4296	6497	SO:0001583	missense	8665					cytosol|eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity	g.chr11:8017564C>A	U94855, AK093511	CCDS7785.1	11p15.4	2010-03-10	2007-07-27	2007-07-27	ENSG00000175390	ENSG00000175390			3275	protein-coding gene	gene with protein product		603914	"eukaryotic translation initiation factor 3, subunit 5 epsilon, 47kDa"	EIF3S5		9341143	Standard	NM_003754		Approved	eIF3-epsilon, eIF3-p47, eIF3f	uc001mfw.3	O00303		ENST00000533626.1:c.1069C>A	11.37:g.8017564C>A	ENSP00000431800:p.Leu357Met					EIF3F_ENST00000537635.1_Missense_Mutation_p.L372M|EIF3F_ENST00000449102.2_Missense_Mutation_p.L208M|EIF3F_ENST00000309828.4_Missense_Mutation_p.L357M	p.L357M			O00303	EIF3F_HUMAN		Epithelial(150;1.44e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)	10	1695	+			357						Missense_Mutation	SNP	ENST00000533626.1	37	c.1069C>A	CCDS7785.1	.	.	.	.	.	.	.	.	.	.	C	18.29	3.591009	0.66219	.	.	ENSG00000175390	ENST00000533626;ENST00000537635;ENST00000309828;ENST00000538607;ENST00000449102	T;T;T;T	0.50548	1.14;1.13;1.14;0.74	5.2	4.28	0.50868	.	0.000000	0.85682	D	0.000000	T	0.55593	0.1930	L	0.43923	1.385	0.58432	D	0.999994	D	0.63046	0.992	P	0.60236	0.871	T	0.59445	-0.7453	10	0.87932	D	0	-12.529	12.1907	0.54270	0.0:0.9147:0.0:0.0853	.	357	O00303	EIF3F_HUMAN	M	357;372;357;307;208	ENSP00000431800:L357M;ENSP00000442283:L372M;ENSP00000310040:L357M;ENSP00000396929:L208M	ENSP00000310040:L357M	L	+	1	2	EIF3F	7974140	1.000000	0.71417	1.000000	0.80357	0.873000	0.50193	2.827000	0.48112	1.511000	0.48818	0.561000	0.74099	CTG		0.453	EIF3F-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000385713.2	NM_003754		42	63	1	0	2.54354e-34	1	2.85517e-34	42	63					A	8017564	C	A	8017564	3	1	435	1	0	0	0	0	1	0	0	0	5016	680	24	5	1099	5	EIF3F	11	8017564	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	4186	8017564	126988952	5016	25941											
TUB	7275	broad.mit.edu	37	chr11	8115637	8115637	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgtgcagctgggagccacgCgcccaacagcaccagcttca	9	5	12	15	2	1	0	1	0	0	0	1	1	1	1	3	1	6	4	3	1	1	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:8115637C>T	ENST00000299506.2	+	4	447	c.298C>T	c.(298-300)Cgc>Tgc	p.R100C	TUB_ENST00000534099.1_Missense_Mutation_p.R106C|TUB_ENST00000305253.4_Missense_Mutation_p.R155C	NM_177972.2	NP_813977.1	P50607	TUB_HUMAN	tubby bipartite transcription factor	100					multicellular organismal macromolecule metabolic process (GO:0044259)|phagocytosis (GO:0006909)|phototransduction (GO:0007602)|positive regulation of phagocytosis (GO:0050766)|response to hormone (GO:0009725)|retina development in camera-type eye (GO:0060041)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	G-protein coupled photoreceptor activity (GO:0008020)|protein complex binding (GO:0032403)			breast(1)|cervix(1)|endometrium(9)|large_intestine(7)|lung(5)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	26		all_lung(207;6.91e-20)|Lung NSC(207;3.36e-17)		Epithelial(150;1.69e-62)|BRCA - Breast invasive adenocarcinoma(625;8.54e-06)|LUSC - Lung squamous cell carcinoma(625;0.000184)		GGGAGCCACGCGCCCAACAGC	0.607																																						ENST00000305253.4																			0				breast(1)|cervix(1)|endometrium(9)|large_intestine(7)|lung(5)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	26						c.(463-465)Cgc>Tgc		tubby bipartite transcription factor							59	59	59					11																	8115637		2201	4296	6497	SO:0001583	missense	7275				phagocytosis|positive regulation of phagocytosis|response to stimulus	cytoplasm|extracellular region|nucleus|plasma membrane		g.chr11:8115637C>T	U54644	CCDS7786.1, CCDS7787.1	11p15.5	2013-08-06	2013-08-06		ENSG00000166402	ENSG00000166402			12406	protein-coding gene	gene with protein product		601197	"tubby (mouse) homolog", "tubby homolog (mouse)"			8612280	Standard	NM_003320		Approved	rd5	uc001mfy.3	P50607	OTTHUMG00000165690	ENST00000299506.2:c.298C>T	11.37:g.8115637C>T	ENSP00000299506:p.Arg100Cys					TUB_ENST00000299506.2_Missense_Mutation_p.R100C|TUB_ENST00000534099.1_Missense_Mutation_p.R106C	p.R155C	NM_003320.4	NP_003311.2	P50607	TUB_HUMAN		Epithelial(150;1.69e-62)|BRCA - Breast invasive adenocarcinoma(625;8.54e-06)|LUSC - Lung squamous cell carcinoma(625;0.000184)	5	704	+		all_lung(207;6.91e-20)|Lung NSC(207;3.36e-17)	100					D3DQU4|O00293|Q6B007	Missense_Mutation	SNP	ENST00000299506.2	37	c.463C>T	CCDS7787.1	.	.	.	.	.	.	.	.	.	.	C	11.54	1.669878	0.29693	.	.	ENSG00000166402	ENST00000534099;ENST00000305253;ENST00000299506	D;D;D	0.86030	-2.04;-2.06;-2.03	4.71	3.8	0.43715	Tubby, N-terminal (1);	0.842379	0.10963	N	0.614787	T	0.68476	0.3005	N	0.08118	0	0.37657	D	0.922644	P;B;P	0.40931	0.733;0.431;0.566	B;B;B	0.33042	0.075;0.075;0.157	T	0.68450	-0.5405	10	0.48119	T	0.1	-19.3019	9.4538	0.38743	0.0:0.8978:0.0:0.1022	.	106;100;155	E9PQR4;P50607;P50607-2	.;TUB_HUMAN;.	C	106;155;100	ENSP00000434400:R106C;ENSP00000305426:R155C;ENSP00000299506:R100C	ENSP00000299506:R100C	R	+	1	0	TUB	8072213	0.164000	0.22935	0.853000	0.33588	0.297000	0.27493	1.699000	0.37804	1.298000	0.44778	0.591000	0.81541	CGC		0.607	TUB-003	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385823.1	NM_003320		5	15	0	0	0	1	0	5	15					T	8115637	C	T	8115637	3	4	435	1	0	0	0	0	1	0	0	0	16739	768	27	1	523	1	TUB	11	8115637	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	98073	8115637	126890879	5017	25942											
C11orf16	56673	broad.mit.edu	37	chr11	8942944	8942944	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcttcccctggcggggtccgCggtggcttcatgtgggttgc	1	11	17	12	3	1	0	1	0	0	0	3	0	3	0	3	6	1	3	3	6	0	3	rs532619467		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:8942944C>T	ENST00000326053.5	-	6	1429	c.1323G>A	c.(1321-1323)ccG>ccA	p.P441P	C11orf16_ENST00000525780.1_Intron	NM_020643.2	NP_065694.2	Q9NQ32	CK016_HUMAN	chromosome 11 open reading frame 16	441										central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	22				Epithelial(150;4.11e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0234)		GCGGGGTCCGCGGTGGCTTCA	0.522													C|||	1	0.000199681	0	0	5008	,	,		18805	0		0	False		,,,				2504	0.001					ENST00000326053.5																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	22						c.(1321-1323)ccG>ccA		chromosome 11 open reading frame 16							135	126	129					11																	8942944		2201	4296	6497	SO:0001819	synonymous_variant	56673							g.chr11:8942944C>T	AJ400877	CCDS7794.1	11p15.3	2008-06-25			ENSG00000176029	ENSG00000176029			1169	protein-coding gene	gene with protein product						11528127	Standard	NM_020643		Approved		uc001mhb.4	Q9NQ32	OTTHUMG00000165654	ENST00000326053.5:c.1323G>A	11.37:g.8942944C>T						C11orf16_ENST00000525780.1_Intron	p.P441P	NM_020643.2	NP_065694.2	Q9NQ32	CK016_HUMAN		Epithelial(150;4.11e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0234)	6	1429	-			441					Q53FB2|Q8N6Y9	Silent	SNP	ENST00000326053.5	37	c.1323G>A	CCDS7794.1																																																																																				0.522	C11orf16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385626.1	NM_020643		42	78	0	0	0	1	0	42	78					T	8942944	C	T	8942944	2	4	435	1	0	0	0	0	0	0	0	1	1631	755	27	1		1	C11orf16	11	8942944	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	827307	8942944	126063572	5018	25943											
C11orf16	56673	broad.mit.edu	37	chr11	8953852	8953852	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cctgggccccgtggaggattCcatggccttcagaggatcca	7	8	13	13	1	1	1	1	0	0	1	3	4	3	4	6	5	0	0	6	5	0	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:8953852C>T	ENST00000326053.5	-	2	110	c.4G>A	c.(4-6)Gaa>Aaa	p.E2K	C11orf16_ENST00000528998.1_5'UTR|C11orf16_ENST00000525780.1_Missense_Mutation_p.E2K	NM_020643.2	NP_065694.2	Q9NQ32	CK016_HUMAN	chromosome 11 open reading frame 16	2										central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	22				Epithelial(150;4.11e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0234)		GTGGAGGATTCCATGGCCTTC	0.617																																						ENST00000326053.5																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	22						c.(4-6)Gaa>Aaa		chromosome 11 open reading frame 16							38	32	34					11																	8953852		2201	4296	6497	SO:0001583	missense	56673							g.chr11:8953852C>T	AJ400877	CCDS7794.1	11p15.3	2008-06-25			ENSG00000176029	ENSG00000176029			1169	protein-coding gene	gene with protein product						11528127	Standard	NM_020643		Approved		uc001mhb.4	Q9NQ32	OTTHUMG00000165654	ENST00000326053.5:c.4G>A	11.37:g.8953852C>T	ENSP00000318999:p.Glu2Lys					C11orf16_ENST00000525780.1_Missense_Mutation_p.E2K|C11orf16_ENST00000528998.1_5'UTR	p.E2K	NM_020643.2	NP_065694.2	Q9NQ32	CK016_HUMAN		Epithelial(150;4.11e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0234)	2	110	-			2					Q53FB2|Q8N6Y9	Missense_Mutation	SNP	ENST00000326053.5	37	c.4G>A	CCDS7794.1	.	.	.	.	.	.	.	.	.	.	C	14.30	2.493292	0.44352	.	.	ENSG00000176029	ENST00000525780;ENST00000326053;ENST00000526227	T;T	0.35973	1.29;1.28	5.41	2.56	0.30785	.	1.092710	0.06973	N	0.818521	T	0.32071	0.0817	L	0.47716	1.5	0.09310	N	1	B;B	0.12630	0.002;0.006	B;B	0.13407	0.009;0.009	T	0.30475	-0.9977	10	0.51188	T	0.08	-16.5725	6.0701	0.19885	0.0:0.6208:0.1959:0.1833	.	2;2	Q9NQ32-2;Q9NQ32	.;CK016_HUMAN	K	2	ENSP00000436818:E2K;ENSP00000318999:E2K	ENSP00000318999:E2K	E	-	1	0	C11orf16	8910428	0.100000	0.21855	0.028000	0.17463	0.032000	0.12392	0.825000	0.27393	0.422000	0.26005	0.561000	0.74099	GAA		0.617	C11orf16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385626.1	NM_020643		5	7	0	0	0	1	0	5	7					T	8953852	C	T	8953852	3	4	435	1	0	0	0	0	1	0	0	0	1631	864	30	3	1419	3	C11orf16	11	8953852	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	10908	8953852	126052664	5019	25944											
SCUBE2	57758	broad.mit.edu	37	chr11	9049017	9049017	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggggtgggttgatggtccaCgtacactcggtgttggctgg	4	11	19	7	2	0	1	0	1	0	0	2	1	1	1	1	7	1	4	1	7	1	3	rs376981822		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:9049017C>T	ENST00000309263.3	-	19	2580	c.2508G>A	c.(2506-2508)acG>acA	p.T836T	SCUBE2_ENST00000520467.1_Silent_p.T808T|SCUBE2_ENST00000457346.2_Silent_p.T865T|RP11-467K18.2_ENST00000531592.1_RNA|SCUBE2_ENST00000450649.2_Intron			Q9NQ36	SCUB2_HUMAN	signal peptide, CUB domain, EGF-like 2	836	CUB. {ECO:0000255|PROSITE- ProRule:PRU00059}.					extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			breast(1)|endometrium(5)|kidney(3)|large_intestine(15)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	42				all cancers(16;8.57e-09)|Epithelial(150;4.42e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0116)		TGATGGTCCACGTACACTCGG	0.552																																						ENST00000457346.2																			0				breast(1)|endometrium(5)|kidney(3)|large_intestine(15)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	42						c.(2593-2595)acG>acA		signal peptide, CUB domain, EGF-like 2		C	,	0,4402		0,0,2201	169	137	148		,2424	-10.9	0	11		148	1,8591	1.2+/-3.3	0,1,4295	no	intron,coding-synonymous	SCUBE2	NM_001170690.1,NM_020974.2	,	0,1,6496	TT,TC,CC		0.0116,0.0,0.0077	,	,808/972	9049017	1,12993	2201	4296	6497	SO:0001819	synonymous_variant	57758					extracellular region	calcium ion binding	g.chr11:9049017C>T	AK131552	CCDS7797.1, CCDS7797.2, CCDS53599.1	11p15.4	2014-09-04			ENSG00000175356	ENSG00000175356			30425	protein-coding gene	gene with protein product		611747				12270931, 11528127	Standard	NM_020974		Approved	Cegf1, Cegb1, FLJ16792	uc001mhi.2	Q9NQ36	OTTHUMG00000163880	ENST00000309263.3:c.2508G>A	11.37:g.9049017C>T						SCUBE2_ENST00000450649.2_Intron|RP11-467K18.2_ENST00000531592.1_RNA|SCUBE2_ENST00000309263.3_Silent_p.T836T|SCUBE2_ENST00000520467.1_Silent_p.T808T	p.T865T			Q9NQ36	SCUB2_HUMAN		all cancers(16;8.57e-09)|Epithelial(150;4.42e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0116)	20	2669	-			836			CUB.		Q2NKQ8|Q6ZWI1	Silent	SNP	ENST00000309263.3	37	c.2595G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	7.338|7.338	0.620318|0.620318	0.14193|0.14193	0.0|0.0	1.16E-4|1.16E-4	ENSG00000175356|ENSG00000175356	ENST00000519202|ENST00000528651	.|.	.|.	.|.	5.43|5.43	-10.9|-10.9	0.00192|0.00192	.|.	.|.	.|.	.|.	.|.	T|T	0.33089|0.33089	0.0851|0.0851	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.48399|0.48399	-0.9039|-0.9039	4|4	.|.	.|.	.|.	.|.	2.7097|2.7097	0.05171|0.05171	0.1482:0.1475:0.2796:0.4246|0.1482:0.1475:0.2796:0.4246	.|.	.|.	.|.	.|.	H|M	19|24	.|.	.|.	R|V	-|-	2|1	0|0	SCUBE2|SCUBE2	9005593|9005593	0.000000|0.000000	0.05858|0.05858	0.049000|0.049000	0.19019|0.19019	0.944000|0.944000	0.59088|0.59088	-9.220000|-9.220000	0.00013|0.00013	-3.622000|-3.622000	0.00131|0.00131	-1.608000|-1.608000	0.00805|0.00805	CGT|GTG		0.552	SCUBE2-005	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000385812.2	NM_020974		14	21	0	0	0	1	0	14	21					T	9049017	C	T	9049017	2	4	435	1	0	0	0	0	0	0	0	1	13945	523	19	1		1	SCUBE2	11	9049017	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	95165	9049017	125957499	5020	25945											
DENND5A	23258	broad.mit.edu	37	chr11	9173944	9173944	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgatgtgagttttctctgccGgttgtcctgataatgtaaca	8	16	10	7	1	1	3	0	3	1	0	3	3	2	3	2	1	2	3	2	1	2	5	rs549657250	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:9173944G>A	ENST00000328194.3	-	13	2802	c.2482C>T	c.(2482-2484)Cgg>Tgg	p.R828W	DENND5A_ENST00000530044.1_Missense_Mutation_p.R828W|DENND5A_ENST00000527700.1_Missense_Mutation_p.R171W	NM_001243254.1|NM_015213.3	NP_001230183.1|NP_056028.2	Q6IQ26	DEN5A_HUMAN	DENN/MADD domain containing 5A	828	RUN 1. {ECO:0000255|PROSITE- ProRule:PRU00178}.				positive regulation of Rab GTPase activity (GO:0032851)	Golgi apparatus (GO:0005794)|membrane (GO:0016020)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(16)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						TTTCTCTGCCGGTTGTCCTGA	0.498																																						ENST00000328194.3																			0				breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(16)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						c.(2482-2484)Cgg>Tgg		DENN/MADD domain containing 5A							302	241	262					11																	9173944		2201	4296	6497	SO:0001583	missense	23258							g.chr11:9173944G>A	AB029014	CCDS31423.1, CCDS58119.1	11p15.3	2012-10-03	2008-08-14	2008-08-14	ENSG00000184014	ENSG00000184014		"DENN/MADD domain containing"	19344	protein-coding gene	gene with protein product			"RAB6 interacting protein 1"	RAB6IP1		10470851	Standard	NM_015213		Approved	KIAA1091, FLJ22354, FLJ33829, FLJ43455	uc001mhl.3	Q6IQ26	OTTHUMG00000165716	ENST00000328194.3:c.2482C>T	11.37:g.9173944G>A	ENSP00000328524:p.Arg828Trp					DENND5A_ENST00000527700.1_Missense_Mutation_p.R171W|DENND5A_ENST00000530044.1_Missense_Mutation_p.R828W	p.R828W	NM_001243254.1|NM_015213.3	NP_001230183.1|NP_056028.2	Q6IQ26	DEN5A_HUMAN			13	2802	-			828			RUN 1.		B4DJ15|E9PS91|Q96GN3|Q9H6U7|Q9UFV0|Q9UPR1	Missense_Mutation	SNP	ENST00000328194.3	37	c.2482C>T	CCDS31423.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	22.3|22.3	4.273640|4.273640	0.80580|0.80580	.|.	.|.	ENSG00000184014|ENSG00000184014	ENST00000524446|ENST00000328194;ENST00000530044;ENST00000527700	.|T;T;T	.|0.18502	.|3.69;3.68;2.21	5.32|5.32	3.26|3.26	0.37387|0.37387	.|RUN (2);	.|0.097634	.|0.64402	.|D	.|0.000002	T|T	0.26774|0.26774	0.0655|0.0655	L|L	0.40543|0.40543	1.245|1.245	0.53688|0.53688	D|D	0.999976|0.999976	.|D;P	.|0.64830	.|0.994;0.931	.|P;P	.|0.58820	.|0.846;0.67	T|T	0.02844|0.02844	-1.1103|-1.1103	5|10	.|0.87932	.|D	.|0	.|.	12.1994|12.1994	0.54315|0.54315	0.0:0.0:0.4709:0.529|0.0:0.0:0.4709:0.529	.|.	.|828;828	.|E9PS91;Q6IQ26	.|.;DEN5A_HUMAN	L|W	4|828;828;171	.|ENSP00000328524:R828W;ENSP00000435866:R828W;ENSP00000432549:R171W	.|ENSP00000328524:R828W	P|R	-|-	2|1	0|2	DENND5A|DENND5A	9130520|9130520	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.974000|0.974000	0.67602|0.67602	3.599000|3.599000	0.54045|0.54045	1.335000|1.335000	0.45486|0.45486	0.650000|0.650000	0.86243|0.86243	CCG|CGG		0.498	DENND5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385910.2	NM_015213		40	59	0	0	0	1	0	40	59					A	9173944	G	A	9173944	3	1	435	1	0	0	0	0	1	0	0	0	4436	1115	39	2	1425	2	DENND5A	11	9173944	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	124927	9173944	125832572	5021	25946											
TMEM41B	440026	broad.mit.edu	37	chr11	9304992	9304992	+	Frame_Shift_Del	DEL	T	T	-																															tactcaaatttctgctttagTtttttttggaagatggctgg																										TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:9304992delT	ENST00000528080.1	-	7	1193	c.855delA	c.(853-855)aaafs	p.K285fs		NM_015012.3	NP_055827.1	Q5BJD5	TM41B_HUMAN	transmembrane protein 41B	285					nervous system development (GO:0007399)	integral component of membrane (GO:0016021)				kidney(1)|large_intestine(2)|lung(1)|prostate(1)|urinary_tract(2)	7				all cancers(16;9.96e-08)|Epithelial(150;4.89e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0972)		TCTGCTTTAGTTTTTTTTGGA	0.338																																						ENST00000528080.1																			0				kidney(1)|large_intestine(2)|lung(1)|prostate(1)|urinary_tract(2)	7						c.(853-855)aafs		transmembrane protein 41B							52	55	54					11																	9304992		2201	4296	6497	SO:0001589	frameshift_variant	440026					integral to membrane		g.chr11:9304992delT	D26067	CCDS31424.1, CCDS53600.1	11p15.3	2008-02-05			ENSG00000166471	ENSG00000166471			28948	protein-coding gene	gene with protein product						7584026, 7584028	Standard	NM_015012		Approved	KIAA0033	uc001mhn.2	Q5BJD5	OTTHUMG00000165719	ENST00000528080.1:c.855delA	11.37:g.9304992delT	ENSP00000433126:p.Lys285fs						p.K285fs	NM_015012.3	NP_055827.1	Q5BJD5	TM41B_HUMAN		all cancers(16;9.96e-08)|Epithelial(150;4.89e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0972)	7	1193	-			285					D3DQU9|E9PP29|Q15055|Q4G0P0	Frame_Shift_Del	DEL	ENST00000528080.1	37	c.855delA	CCDS31424.1																																																																																				0.338	TMEM41B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385940.2			8	30						8	30	---	---	---	---	-	9304992	T	-	9304992	7	5	435	1	0	1	0	1	0	0	0	0	16162	1722	60	0	24	0	TMEM41B	11	9304992	Frame_Shift_Del	DEL	T	TCGA-XK-AAIW-01A-11D-A41K-08	131048	9304992	125701524	5022	25947											
IPO7	10527	broad.mit.edu	37	chr11	9430101	9430101	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaacagcaccaggggatataTccccttatactattccagaa	15	9	6	11	0	0	1	0	0	0	1	2	2	2	2	4	2	3	1	4	2	7	6			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:9430101T>C	ENST00000379719.3	+	3	377	c.235T>C	c.(235-237)Tcc>Ccc	p.S79P		NM_006391.2	NP_006382.1	O95373	IPO7_HUMAN	importin 7	79	Importin N-terminal. {ECO:0000255|PROSITE-ProRule:PRU00115}.				innate immune response (GO:0045087)|protein import into nucleus (GO:0006606)|regulation of catalytic activity (GO:0050790)|signal transduction (GO:0007165)|viral process (GO:0016032)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear pore (GO:0005643)	Ran GTPase binding (GO:0008536)|small GTPase regulator activity (GO:0005083)|transporter activity (GO:0005215)			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				all cancers(16;8.29e-09)|Epithelial(150;4.76e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0217)		AGGGGATATATCCCCTTATAC	0.353																																						ENST00000379719.3																			0				NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(235-237)Tcc>Ccc		importin 7							67	70	69					11																	9430101		2201	4296	6497	SO:0001583	missense	10527				interspecies interaction between organisms|signal transduction	Golgi apparatus|nuclear pore|soluble fraction	protein transporter activity|Ran GTPase binding|small GTPase regulator activity	g.chr11:9430101T>C	AF098799	CCDS31425.1	11p15.3	2010-12-02	2003-03-11	2003-03-14	ENSG00000205339	ENSG00000205339		"Importins"	9852	protein-coding gene	gene with protein product		605586	"RAN binding protein 7"	RANBP7		9214382	Standard	NM_006391		Approved	Imp7	uc001mho.3	O95373	OTTHUMG00000165753	ENST00000379719.3:c.235T>C	11.37:g.9430101T>C	ENSP00000369042:p.Ser79Pro						p.S79P	NM_006391.2	NP_006382.1	O95373	IPO7_HUMAN		all cancers(16;8.29e-09)|Epithelial(150;4.76e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0217)	3	377	+			79			Importin N-terminal.		A6NNM5|B2R786|Q1RMF7|Q9H177|Q9NTE3	Missense_Mutation	SNP	ENST00000379719.3	37	c.235T>C	CCDS31425.1	.	.	.	.	.	.	.	.	.	.	T	13.67	2.307258	0.40795	.	.	ENSG00000205339	ENST00000379719;ENST00000527431	T;T	0.44881	1.82;0.91	5.74	1.96	0.26148	Armadillo-like helical (1);Armadillo-type fold (1);Importin-beta, N-terminal (3);	0.301356	0.41938	D	0.000788	T	0.12092	0.0294	N	0.01048	-1.04	0.24712	N	0.993191	B	0.02656	0.0	B	0.01281	0.0	T	0.16100	-1.0414	10	0.30078	T	0.28	.	3.5188	0.07735	0.0:0.2072:0.4748:0.318	.	79	O95373	IPO7_HUMAN	P	79;17	ENSP00000369042:S79P;ENSP00000435235:S17P	ENSP00000369042:S79P	S	+	1	0	IPO7	9386677	0.990000	0.36364	0.998000	0.56505	0.992000	0.81027	2.589000	0.46145	0.394000	0.25230	0.528000	0.53228	TCC		0.353	IPO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386022.1	NM_006391		28	41	0	0	0	1	0	28	41					C	9430101	T	C	9430101	3	2	435	1	0	0	0	0	1	0	0	0	7797	1435	50	4	245	4	IPO7	11	9430101	Missense_Mutation	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	125109	9430101	125576415	5023	25948											
ZNF143	7702	broad.mit.edu	37	chr11	9492877	9492877	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgttgttagcccaaataaatCgagattctcagggaatgaca	14	11	9	7	1	1	2	1	1	1	1	3	4	1	3	1	1	1	2	1	1	5	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:9492877C>T	ENST00000396602.2	+	2	141	c.22C>T	c.(22-24)Cga>Tga	p.R8*	ZNF143_ENST00000396597.3_Nonsense_Mutation_p.R8*|ZNF143_ENST00000299606.2_Nonsense_Mutation_p.R8*|ZNF143_ENST00000530463.1_Nonsense_Mutation_p.R8*|ZNF143_ENST00000396604.1_Nonsense_Mutation_p.R8*	NM_001282656.1|NM_001282657.1|NM_003442.5	NP_001269585.1|NP_001269586.1|NP_003433.3	P52747	ZN143_HUMAN	zinc finger protein 143	8					gene expression (GO:0010467)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|transcription from RNA polymerase II promoter (GO:0006366)|transcription from RNA polymerase III promoter (GO:0006383)	nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|large_intestine(5)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	13				all cancers(16;4.12e-09)|Epithelial(150;2.29e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0212)		CCAAATAAATCGAGATTCTCA	0.418																																						ENST00000396602.2																			0				endometrium(1)|large_intestine(5)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	13						c.(22-24)Cga>Tga		zinc finger protein 143							151	140	144					11																	9492877		2201	4294	6495	SO:0001587	stop_gained	7702				regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase III promoter|transcription from RNA polymerase II promoter|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding|zinc ion binding	g.chr11:9492877C>T	U09850	CCDS7799.2, CCDS60720.1, CCDS60721.1	11p15.4	2013-01-08	2006-06-13		ENSG00000166478	ENSG00000166478		"Zinc fingers, C2H2-type"	12928	protein-coding gene	gene with protein product		603433	"zinc finger protein 143 (clone pHZ-1)"				Standard	NM_003442		Approved	SBF, pHZ-1, STAF	uc001mhr.3	P52747	OTTHUMG00000149922	ENST00000396602.2:c.22C>T	11.37:g.9492877C>T	ENSP00000379847:p.Arg8*					ZNF143_ENST00000530463.1_Nonsense_Mutation_p.R8*|ZNF143_ENST00000396604.1_Nonsense_Mutation_p.R8*|ZNF143_ENST00000396597.3_Nonsense_Mutation_p.R8*|ZNF143_ENST00000299606.2_Nonsense_Mutation_p.R8*	p.R8*	NM_003442.5	NP_003433.3	P52747	ZN143_HUMAN		all cancers(16;4.12e-09)|Epithelial(150;2.29e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0212)	2	141	+			8					A8K518|B4DLY5|E7ER34|O75559|Q8WUK9	Nonsense_Mutation	SNP	ENST00000396602.2	37	c.22C>T	CCDS7799.2	.	.	.	.	.	.	.	.	.	.	C	37	6.325365	0.97476	.	.	ENSG00000166478	ENST00000531943;ENST00000396604;ENST00000396602;ENST00000530463;ENST00000533542;ENST00000532577;ENST00000396597;ENST00000438144;ENST00000526657;ENST00000299606;ENST00000534265;ENST00000412390;ENST00000414370;ENST00000417726	.	.	.	5.89	4.98	0.66077	.	0.000000	0.39544	U	0.001336	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.0508	0.71867	0.0:0.9321:0.0:0.0679	.	.	.	.	X	8	.	ENSP00000299606:R8X	R	+	1	2	ZNF143	9449453	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.456000	0.80751	1.492000	0.48499	0.655000	0.94253	CGA		0.418	ZNF143-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313921.2	NM_003442		13	27	0	0	0	1	0	13	27					T	9492877	C	T	9492877	4	4	435	1	0	0	0	0	0	1	0	0	17729	876	31	2	24	2	ZNF143	11	9492877	Nonsense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	62776	9492877	125513639	5024	25949											
WEE1	7465	broad.mit.edu	37	chr11	9608137	9608137	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tacctcggataccacaagtgCtttcccaagaatttacagag	13	10	7	11	1	0	2	0	0	0	2	2	3	1	3	3	1	4	1	3	1	6	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:9608137C>T	ENST00000450114.2	+	9	1865	c.1612C>T	c.(1612-1614)Ctt>Ttt	p.L538F	WEE1_ENST00000299613.6_Missense_Mutation_p.L324F	NM_003390.3	NP_003381.1	P30291	WEE1_HUMAN	WEE1 G2 checkpoint kinase	538	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				blood coagulation (GO:0007596)|establishment of cell polarity (GO:0030010)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|neuron projection morphogenesis (GO:0048812)|regulation of cell cycle (GO:0051726)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	23				all cancers(16;4.59e-09)|Epithelial(150;3.15e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0484)		ACCACAAGTGCTTTCCCAAGA	0.398																																						ENST00000299613.6																			0				breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	23						c.(970-972)Ctt>Ttt		WEE1 G2 checkpoint kinase							109	107	108					11																	9608137		2201	4294	6495	SO:0001583	missense	7465				blood coagulation|cell cycle checkpoint|cell division|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|mitosis|S phase of mitotic cell cycle	nucleoplasm	ATP binding|magnesium ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding|protein serine/threonine kinase activity	g.chr11:9608137C>T	X62048	CCDS7800.1, CCDS44536.1	11p15.4	2013-10-21	2013-10-21		ENSG00000166483	ENSG00000166483			12761	protein-coding gene	gene with protein product		193525	"wee1+ (S. pombe) homolog", "WEE1 homolog (S. pombe)"			1840647	Standard	NM_003390		Approved		uc001mhs.3	P30291	OTTHUMG00000165863	ENST00000450114.2:c.1612C>T	11.37:g.9608137C>T	ENSP00000402084:p.Leu538Phe					WEE1_ENST00000450114.2_Missense_Mutation_p.L538F	p.L324F	NM_001143976.1	NP_001137448.1	P30291	WEE1_HUMAN		all cancers(16;4.59e-09)|Epithelial(150;3.15e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0484)	9	1725	+			538			Protein kinase.		B3KVE1|D3DQV0	Missense_Mutation	SNP	ENST00000450114.2	37	c.970C>T	CCDS7800.1	.	.	.	.	.	.	.	.	.	.	C	33	5.281985	0.95489	.	.	ENSG00000166483	ENST00000450114;ENST00000299613;ENST00000530712	T;T;T	0.75260	0.95;0.95;-0.92	5.98	5.98	0.97165	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.064406	0.64402	D	0.000005	D	0.83436	0.5254	L	0.48218	1.51	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.80167	-0.1495	10	0.36615	T	0.2	-12.7005	20.452	0.99131	0.0:1.0:0.0:0.0	.	538	P30291	WEE1_HUMAN	F	538;324;144	ENSP00000402084:L538F;ENSP00000299613:L324F;ENSP00000434148:L144F	ENSP00000299613:L324F	L	+	1	0	WEE1	9564713	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.104000	0.77024	2.838000	0.97847	0.591000	0.81541	CTT		0.398	WEE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386757.1	NM_003390		35	53	0	0	0	1	0	35	53					T	9608137	C	T	9608137	3	4	435	1	0	0	0	0	1	0	0	0	17341	797	28	3	1646	3	WEE1	11	9608137	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	115260	9608137	125398379	5025	25950											
SBF2	81846	broad.mit.edu	37	chr11	9864204	9864204	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catcttcattccatccaggaCgatttactctttcttccaca	9	15	3	14	1	4	0	1	0	3	0	7	2	7	1	3	1	1	0	3	1	1	6	rs568303179		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:9864204C>T	ENST00000256190.8	-	25	3361	c.3224G>A	c.(3223-3225)cGt>cAt	p.R1075H	RNU7-28P_ENST00000516759.1_RNA|RP11-1H15.2_ENST00000533659.1_RNA	NM_030962.3	NP_112224.1	Q86WG5	MTMRD_HUMAN	SET binding factor 2	1075					cell death (GO:0008219)|myelination (GO:0042552)|positive regulation of Rab GTPase activity (GO:0032851)|protein tetramerization (GO:0051262)	membrane (GO:0016020)|vacuolar membrane (GO:0005774)	phosphatase activity (GO:0016791)|phosphatase regulator activity (GO:0019208)|phosphatidylinositol binding (GO:0035091)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(4)|endometrium(8)|kidney(2)|large_intestine(8)|lung(16)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48				all cancers(16;2.88e-11)|Epithelial(150;3.61e-10)|BRCA - Breast invasive adenocarcinoma(625;0.00887)		CCATCCAGGACGATTTACTCT	0.363													C|||	1	0.000199681	8e-04	0	5008	,	,		20326	0		0	False		,,,				2504	0					ENST00000256190.8																			0				breast(4)|endometrium(8)|kidney(2)|large_intestine(8)|lung(16)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						c.(3223-3225)cGt>cAt		SET binding factor 2							158	137	144					11																	9864204		2200	4294	6494	SO:0001583	missense	81846				myelination	cytoplasm|membrane	phosphatase activity|protein binding	g.chr11:9864204C>T	AB051553	CCDS31427.1	11p15.3	2014-09-17	2004-11-12	2004-11-12	ENSG00000133812	ENSG00000133812		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins", "DENN/MADD domain containing", "Pleckstrin homology (PH) domain containing"	2135	protein-coding gene	gene with protein product	"myotubularin related 13"	607697	"Charcot-Marie-Tooth neuropathy 4B2 (autosomal recessive, with myelin outfolding)", "DENN/MADD domain containing 7B"	CMT4B2		10644431	Standard	NM_030962		Approved	KIAA1766, MTMR13, DENND7B	uc001mib.2	Q86WG5	OTTHUMG00000165890	ENST00000256190.8:c.3224G>A	11.37:g.9864204C>T	ENSP00000256190:p.Arg1075His					RP11-1H15.2_ENST00000533659.1_RNA	p.R1075H	NM_030962.3	NP_112224.1	Q86WG5	MTMRD_HUMAN		all cancers(16;2.88e-11)|Epithelial(150;3.61e-10)|BRCA - Breast invasive adenocarcinoma(625;0.00887)	25	3361	-			1075					Q3MJF0|Q68DQ3|Q6P459|Q6PJD1|Q7Z325|Q7Z621|Q86VE2|Q96FE2|Q9C097	Missense_Mutation	SNP	ENST00000256190.8	37	c.3224G>A	CCDS31427.1	.	.	.	.	.	.	.	.	.	.	C	17.17	3.322093	0.60634	.	.	ENSG00000133812	ENST00000256190	D	0.85702	-2.02	5.48	5.48	0.80851	.	0.048793	0.85682	D	0.000000	D	0.87414	0.6171	L	0.44542	1.39	0.80722	D	1	D	0.63880	0.993	P	0.54346	0.749	D	0.86988	0.2108	10	0.45353	T	0.12	.	19.3452	0.94359	0.0:1.0:0.0:0.0	.	1075	Q86WG5	MTMRD_HUMAN	H	1075	ENSP00000256190:R1075H	ENSP00000256190:R1075H	R	-	2	0	SBF2	9820780	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	4.402000	0.59722	2.579000	0.87056	0.585000	0.79938	CGT		0.363	SBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386911.2	NM_030962		13	52	0	0	0	1	0	13	52					T	9864204	C	T	9864204	3	4	435	1	0	0	0	0	1	0	0	0	13859	536	19	1	2389	1	SBF2	11	9864204	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	256067	9864204	125142312	5026	25951											
SBF2	81846	broad.mit.edu	37	chr11	9878212	9878212	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taggccaaaggcgtagttgcTcagctgccaggtccattgct	8	10	12	11	1	1	0	1	0	0	0	2	0	2	0	3	3	4	5	3	3	3	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:9878212T>C	ENST00000256190.8	-	19	2293	c.2156A>G	c.(2155-2157)gAg>gGg	p.E719G	RP11-1H15.2_ENST00000533659.1_RNA	NM_030962.3	NP_112224.1	Q86WG5	MTMRD_HUMAN	SET binding factor 2	719					cell death (GO:0008219)|myelination (GO:0042552)|positive regulation of Rab GTPase activity (GO:0032851)|protein tetramerization (GO:0051262)	membrane (GO:0016020)|vacuolar membrane (GO:0005774)	phosphatase activity (GO:0016791)|phosphatase regulator activity (GO:0019208)|phosphatidylinositol binding (GO:0035091)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(4)|endometrium(8)|kidney(2)|large_intestine(8)|lung(16)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48				all cancers(16;2.88e-11)|Epithelial(150;3.61e-10)|BRCA - Breast invasive adenocarcinoma(625;0.00887)		GCGTAGTTGCTCAGCTGCCAG	0.453																																						ENST00000256190.8																			0				breast(4)|endometrium(8)|kidney(2)|large_intestine(8)|lung(16)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						c.(2155-2157)gAg>gGg		SET binding factor 2							257	241	247					11																	9878212		2201	4294	6495	SO:0001583	missense	81846				myelination	cytoplasm|membrane	phosphatase activity|protein binding	g.chr11:9878212T>C	AB051553	CCDS31427.1	11p15.3	2014-09-17	2004-11-12	2004-11-12	ENSG00000133812	ENSG00000133812		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins", "DENN/MADD domain containing", "Pleckstrin homology (PH) domain containing"	2135	protein-coding gene	gene with protein product	"myotubularin related 13"	607697	"Charcot-Marie-Tooth neuropathy 4B2 (autosomal recessive, with myelin outfolding)", "DENN/MADD domain containing 7B"	CMT4B2		10644431	Standard	NM_030962		Approved	KIAA1766, MTMR13, DENND7B	uc001mib.2	Q86WG5	OTTHUMG00000165890	ENST00000256190.8:c.2156A>G	11.37:g.9878212T>C	ENSP00000256190:p.Glu719Gly					RP11-1H15.2_ENST00000533659.1_RNA	p.E719G	NM_030962.3	NP_112224.1	Q86WG5	MTMRD_HUMAN		all cancers(16;2.88e-11)|Epithelial(150;3.61e-10)|BRCA - Breast invasive adenocarcinoma(625;0.00887)	19	2293	-			719					Q3MJF0|Q68DQ3|Q6P459|Q6PJD1|Q7Z325|Q7Z621|Q86VE2|Q96FE2|Q9C097	Missense_Mutation	SNP	ENST00000256190.8	37	c.2156A>G	CCDS31427.1	.	.	.	.	.	.	.	.	.	.	t	17.18	3.323299	0.60634	.	.	ENSG00000133812	ENST00000256190	T	0.52754	0.65	5.59	5.59	0.84812	.	0.226548	0.42821	D	0.000644	T	0.51787	0.1695	M	0.73598	2.24	0.80722	D	1	B	0.15141	0.012	B	0.14578	0.011	T	0.52593	-0.8555	10	0.66056	D	0.02	.	16.0663	0.80878	0.0:0.0:0.0:1.0	.	719	Q86WG5	MTMRD_HUMAN	G	719	ENSP00000256190:E719G	ENSP00000256190:E719G	E	-	2	0	SBF2	9834788	1.000000	0.71417	0.995000	0.50966	0.989000	0.77384	5.087000	0.64480	2.251000	0.74343	0.456000	0.33151	GAG		0.453	SBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386911.2	NM_030962		64	107	0	0	0	1	0	64	107					C	9878212	T	C	9878212	3	2	435	1	0	0	0	0	1	0	0	0	13859	1551	54	4	3481	4	SBF2	11	9878212	Missense_Mutation	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	14008	9878212	125128304	5027	25952											
LYVE1	10894	broad.mit.edu	37	chr11	10580686	10580686	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cagcttccaggcatcgcacgGtagttttgcttggactcttg	6	13	11	11	2	1	0	0	0	1	0	3	1	2	1	1	3	2	6	1	3	1	6			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:10580686G>A	ENST00000256178.3	-	6	1099	c.941C>T	c.(940-942)aCc>aTc	p.T314I	LYVE1_ENST00000531706.1_5'Flank|MRVI1-AS1_ENST00000529979.1_RNA|MRVI1-AS1_ENST00000529829.1_RNA|LYVE1_ENST00000529598.1_Missense_Mutation_p.T210I	NM_006691.3	NP_006682.2	Q9Y5Y7	LYVE1_HUMAN	lymphatic vessel endothelial hyaluronan receptor 1	314					anatomical structure morphogenesis (GO:0009653)|carbohydrate metabolic process (GO:0005975)|cell-matrix adhesion (GO:0007160)|cellular component movement (GO:0006928)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan catabolic process (GO:0030214)|hyaluronan metabolic process (GO:0030212)|response to wounding (GO:0009611)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	hyaluronic acid binding (GO:0005540)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	8				all cancers(16;7.22e-08)|Epithelial(150;1.03e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0609)		GCATCGCACGGTAGTTTTGCT	0.463																																						ENST00000256178.3																			0				central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	8						c.(940-942)aCc>aTc		lymphatic vessel endothelial hyaluronan receptor 1							301	277	285					11																	10580686		2201	4294	6495	SO:0001583	missense	10894				anatomical structure morphogenesis|cell-matrix adhesion|cellular component movement|response to wounding|transport	integral to plasma membrane|membrane fraction		g.chr11:10580686G>A	AF118108	CCDS7804.1	11p15	2008-02-05	2007-06-26	2007-06-26		ENSG00000133800			14687	protein-coding gene	gene with protein product		605702	"extracellular link domain containing 1"	XLKD1		10037799, 12554094	Standard	NM_006691		Approved	LYVE-1	uc001miv.2	Q9Y5Y7		ENST00000256178.3:c.941C>T	11.37:g.10580686G>A	ENSP00000256178:p.Thr314Ile					LYVE1_ENST00000529598.1_Missense_Mutation_p.T210I|MRVI1-AS1_ENST00000529979.1_RNA|MRVI1-AS1_ENST00000529829.1_RNA	p.T314I	NM_006691.3	NP_006682.2	Q9Y5Y7	LYVE1_HUMAN		all cancers(16;7.22e-08)|Epithelial(150;1.03e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0609)	6	1099	-			314					Q8TC18|Q9UNF4	Missense_Mutation	SNP	ENST00000256178.3	37	c.941C>T	CCDS7804.1	.	.	.	.	.	.	.	.	.	.	G	13.26	2.184228	0.38609	.	.	ENSG00000133800	ENST00000256178;ENST00000529598	T;T	0.39056	2.87;1.1	6.02	6.02	0.97574	.	0.131978	0.52532	D	0.000067	T	0.62708	0.2450	M	0.71581	2.175	0.46849	D	0.999221	D;D	0.63880	0.992;0.993	P;P	0.61800	0.894;0.844	T	0.63849	-0.6544	10	0.87932	D	0	-4.9574	17.4575	0.87611	0.0:0.0:1.0:0.0	.	210;314	F2Z296;Q9Y5Y7	.;LYVE1_HUMAN	I	314;210	ENSP00000256178:T314I;ENSP00000436016:T210I	ENSP00000256178:T314I	T	-	2	0	LYVE1	10537262	0.965000	0.33210	0.954000	0.39281	0.105000	0.19272	3.716000	0.54904	2.865000	0.98341	0.655000	0.94253	ACC		0.463	LYVE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385893.1	NM_016164		85	91	0	0	0	1	0	85	91					A	10580686	G	A	10580686	3	1	435	1	0	0	0	0	1	0	0	0	9129	1261	44	3	31	3	LYVE1	11	10580686	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	702474	10580686	124425830	5028	25953											
MRVI1	10335	broad.mit.edu	37	chr11	10622544	10622544	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tccgcatggtccttctcataCgtcctctttagattctccac	6	15	5	15	2	3	1	1	0	3	1	8	1	6	1	4	1	1	1	4	1	2	5	rs201976412		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:10622544C>T	ENST00000436272.1	-	14	1935	c.1857G>A	c.(1855-1857)acG>acA	p.T619T	LYVE1_ENST00000531706.1_Intron|MRVI1_ENST00000552103.1_Silent_p.T555T|MRVI1_ENST00000531107.1_Silent_p.T638T|MRVI1-AS1_ENST00000525578.1_RNA|MRVI1_ENST00000421747.1_Silent_p.T637T|MRVI1_ENST00000558540.1_Silent_p.T331T|MRVI1-AS1_ENST00000529979.1_RNA|MRVI1_ENST00000423302.2_Silent_p.T646T|MRVI1_ENST00000527509.2_Silent_p.T555T|MRVI1_ENST00000541483.1_Silent_p.T440T|MRVI1-AS1_ENST00000529829.1_RNA|MRVI1_ENST00000545852.1_Silent_p.T331T|MRVI1_ENST00000534266.2_Silent_p.T331T|MRVI1_ENST00000547195.1_Silent_p.T555T|MRVI1_ENST00000424001.1_Silent_p.T331T			Q9Y6F6	MRVI1_HUMAN	murine retrovirus integration site 1 homolog	619					blood coagulation (GO:0007596)|cGMP-mediated signaling (GO:0019934)|relaxation of vascular smooth muscle (GO:0060087)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|platelet dense tubular network membrane (GO:0031095)|sarcoplasmic reticulum (GO:0016529)				central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(2)	22				all cancers(16;2.68e-07)|Epithelial(150;3.04e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0723)		CCTTCTCATACGTCCTCTTTA	0.522													C|||	1	0.000199681	0	0	5008	,	,		22050	0		0.001	False		,,,				2504	0					ENST00000547195.1																			0				central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(2)	22						c.(1663-1665)acG>acA		murine retrovirus integration site 1 homolog		C	,,,,,	2,3938		0,2,1968	231	227	228		1914,1665,993,1320,993,1938	-6.6	0.7	11		228	1,8295		0,1,4147	yes	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	MRVI1	NM_001098579.2,NM_001100163.2,NM_001100167.2,NM_001206880.1,NM_001206881.1,NM_130385.3	,,,,,	0,3,6115	TT,TC,CC		0.0121,0.0508,0.0245	,,,,,	638/905,555/822,331/598,440/707,331/598,646/913	10622544	3,12233	1970	4148	6118	SO:0001819	synonymous_variant	10335				platelet activation	endoplasmic reticulum membrane|integral to membrane|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum		g.chr11:10622544C>T	AF081249	CCDS44538.1, CCDS44539.1, CCDS44540.1, CCDS44538.2, CCDS55745.1, CCDS55746.1	11p15.4	2014-09-11			ENSG00000072952	ENSG00000072952			7237	protein-coding gene	gene with protein product	"inositol 1,4,5-triphosphate-associated cGMP kinase substrate", "IP3R-associated cGMP kinase substrate"	604673				10321731	Standard	NM_001098579		Approved	JAW1L, IRAG	uc010rcb.1	Q9Y6F6	OTTHUMG00000165773	ENST00000436272.1:c.1857G>A	11.37:g.10622544C>T						MRVI1_ENST00000552103.1_Silent_p.T555T|MRVI1_ENST00000423302.2_Silent_p.T646T|MRVI1_ENST00000436272.1_Silent_p.T619T|MRVI1_ENST00000558540.1_Silent_p.T331T|MRVI1_ENST00000545852.1_Silent_p.T331T|MRVI1_ENST00000424001.1_Silent_p.T331T|LYVE1_ENST00000531706.1_Intron|MRVI1_ENST00000527509.2_Silent_p.T555T|MRVI1_ENST00000534266.2_Silent_p.T331T|MRVI1_ENST00000421747.1_Silent_p.T637T|MRVI1_ENST00000531107.1_Silent_p.T638T|MRVI1_ENST00000541483.1_Silent_p.T440T	p.T555T	NM_001100163.2|NM_001206881.1	NP_001093633.1|NP_001193810.1	Q9Y6F6	MRVI1_HUMAN		all cancers(16;2.68e-07)|Epithelial(150;3.04e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0723)	14	2165	-			619					B7Z3T4|B7Z6I2|B7Z9A3|E9PQY6|F5H6A1|J3KQZ7|Q17S00|Q9UNY1	Silent	SNP	ENST00000436272.1	37	c.1665G>A																																																																																					0.522	MRVI1-203	KNOWN	basic	protein_coding	protein_coding		NM_001098579		55	80	0	0	0	1	0	55	80					T	10622544	C	T	10622544	2	4	435	1	0	0	0	0	0	0	0	1	9853	523	19	1		1	MRVI1	11	10622544	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	41858	10622544	124383972	5029	25954											
MRVI1	10335	broad.mit.edu	37	chr11	10631334	10631334	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcacatcagaaatattaggCatgacatctaagccactctt	15	10	6	10	0	3	2	1	1	2	1	3	2	3	2	1	1	2	2	1	1	4	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:10631334C>T	ENST00000436272.1	-	10	1509	c.1431G>A	c.(1429-1431)atG>atA	p.M477I	LYVE1_ENST00000531706.1_Intron|MRVI1_ENST00000552103.1_Missense_Mutation_p.M413I|MRVI1_ENST00000531107.1_Missense_Mutation_p.M496I|MRVI1_ENST00000421747.1_Missense_Mutation_p.M495I|MRVI1_ENST00000558540.1_Missense_Mutation_p.M189I|MRVI1_ENST00000423302.2_Missense_Mutation_p.M504I|MRVI1_ENST00000527509.2_Missense_Mutation_p.M413I|MRVI1_ENST00000541483.1_Missense_Mutation_p.M298I|MRVI1_ENST00000545852.1_Missense_Mutation_p.M189I|MRVI1_ENST00000534266.2_Missense_Mutation_p.M189I|MRVI1_ENST00000547195.1_Missense_Mutation_p.M413I|MRVI1_ENST00000424001.1_Missense_Mutation_p.M189I			Q9Y6F6	MRVI1_HUMAN	murine retrovirus integration site 1 homolog	477					blood coagulation (GO:0007596)|cGMP-mediated signaling (GO:0019934)|relaxation of vascular smooth muscle (GO:0060087)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|platelet dense tubular network membrane (GO:0031095)|sarcoplasmic reticulum (GO:0016529)				central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(2)	22				all cancers(16;2.68e-07)|Epithelial(150;3.04e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0723)		AAATATTAGGCATGACATCTA	0.458																																						ENST00000547195.1																			0				central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(2)	22						c.(1237-1239)atG>atA		murine retrovirus integration site 1 homolog							56	57	57					11																	10631334		1897	4111	6008	SO:0001583	missense	10335				platelet activation	endoplasmic reticulum membrane|integral to membrane|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum		g.chr11:10631334C>T	AF081249	CCDS44538.1, CCDS44539.1, CCDS44540.1, CCDS44538.2, CCDS55745.1, CCDS55746.1	11p15.4	2014-09-11			ENSG00000072952	ENSG00000072952			7237	protein-coding gene	gene with protein product	"inositol 1,4,5-triphosphate-associated cGMP kinase substrate", "IP3R-associated cGMP kinase substrate"	604673				10321731	Standard	NM_001098579		Approved	JAW1L, IRAG	uc010rcb.1	Q9Y6F6	OTTHUMG00000165773	ENST00000436272.1:c.1431G>A	11.37:g.10631334C>T	ENSP00000412229:p.Met477Ile					MRVI1_ENST00000552103.1_Missense_Mutation_p.M413I|MRVI1_ENST00000423302.2_Missense_Mutation_p.M504I|MRVI1_ENST00000436272.1_Missense_Mutation_p.M477I|MRVI1_ENST00000558540.1_Missense_Mutation_p.M189I|MRVI1_ENST00000545852.1_Missense_Mutation_p.M189I|MRVI1_ENST00000424001.1_Missense_Mutation_p.M189I|LYVE1_ENST00000531706.1_Intron|MRVI1_ENST00000527509.2_Missense_Mutation_p.M413I|MRVI1_ENST00000534266.2_Missense_Mutation_p.M189I|MRVI1_ENST00000421747.1_Missense_Mutation_p.M495I|MRVI1_ENST00000531107.1_Missense_Mutation_p.M496I|MRVI1_ENST00000541483.1_Missense_Mutation_p.M298I	p.M413I	NM_001100163.2|NM_001206881.1	NP_001093633.1|NP_001193810.1	Q9Y6F6	MRVI1_HUMAN		all cancers(16;2.68e-07)|Epithelial(150;3.04e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0723)	10	1739	-			477					B7Z3T4|B7Z6I2|B7Z9A3|E9PQY6|F5H6A1|J3KQZ7|Q17S00|Q9UNY1	Missense_Mutation	SNP	ENST00000436272.1	37	c.1239G>A		.	.	.	.	.	.	.	.	.	.	C	34	5.363726	0.95877	.	.	ENSG00000072952	ENST00000421747;ENST00000308763;ENST00000436272;ENST00000547195;ENST00000552103;ENST00000545852;ENST00000424001;ENST00000423302;ENST00000541483;ENST00000531107;ENST00000527509	T;T;T;T;T;T;T;T;T;T	0.12255	2.7;2.7;2.7;2.7;2.7;2.7;2.7;2.7;2.7;2.7	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.39172	0.1068	M	0.66939	2.045	0.80722	D	1	D;D;D;D	0.69078	0.962;0.997;0.997;0.996	D;D;D;D	0.79108	0.946;0.992;0.992;0.986	T	0.00409	-1.1757	10	0.39692	T	0.17	-17.5767	20.8794	0.99867	0.0:1.0:0.0:0.0	.	298;477;496;495	F5H6A1;Q9Y6F6;E9PQY6;Q9Y6F6-4	.;MRVI1_HUMAN;.;.	I	495;478;477;413;413;189;189;504;298;496;413	ENSP00000414598:M495I;ENSP00000412229:M477I;ENSP00000448278:M413I;ENSP00000446764:M413I;ENSP00000441971:M189I;ENSP00000401205:M189I;ENSP00000412130:M504I;ENSP00000437784:M298I;ENSP00000432436:M496I;ENSP00000432067:M413I	ENSP00000307885:M478I	M	-	3	0	MRVI1	10587910	1.000000	0.71417	1.000000	0.80357	0.914000	0.54420	6.581000	0.74045	2.941000	0.99782	0.655000	0.94253	ATG		0.458	MRVI1-203	KNOWN	basic	protein_coding	protein_coding		NM_001098579		19	26	0	0	0	1	0	19	26					T	10631334	C	T	10631334	3	4	435	1	0	0	0	0	1	0	0	0	9853	710	25	3	1270	3	MRVI1	11	10631334	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	8790	10631334	124375182	5030	25955											
CTR9	9646	broad.mit.edu	37	chr11	10794725	10794725	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aaaagaaacttttggaacagCgggcccagtatgtggagaag	15	7	13	6	1	0	2	0	0	0	2	0	4	0	3	1	3	3	1	1	3	6	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:10794725C>T	ENST00000361367.2	+	21	3058	c.2632C>T	c.(2632-2634)Cgg>Tgg	p.R878W		NM_014633.3	NP_055448.1	Q6PD62	CTR9_HUMAN	CTR9, Paf1/RNA polymerase II complex component	878	Lys-rich.				cellular response to lipopolysaccharide (GO:0071222)|endodermal cell fate commitment (GO:0001711)|histone H2B ubiquitination (GO:0033523)|histone H3-K4 trimethylation (GO:0080182)|histone monoubiquitination (GO:0010390)|interleukin-6-mediated signaling pathway (GO:0070102)|JAK-STAT cascade (GO:0007259)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of histone H3-K79 methylation (GO:2001162)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	Cdc73/Paf1 complex (GO:0016593)|transcriptionally active chromatin (GO:0035327)				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(12)|ovary(2)|pancreas(1)|stomach(1)	40				all cancers(16;1.64e-07)|Epithelial(150;2.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)		TTTGGAACAGCGGGCCCAGTA	0.413																																						ENST00000361367.2																			0				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(12)|ovary(2)|pancreas(1)|stomach(1)	40						c.(2632-2634)Cgg>Tgg		CTR9, Paf1/RNA polymerase II complex component							91	94	93					11																	10794725		2201	4294	6495	SO:0001583	missense	9646				histone H2B ubiquitination|histone monoubiquitination	Cdc73/Paf1 complex|nuclear speck		g.chr11:10794725C>T	D63875	CCDS7805.1	11p15.3	2013-07-03	2013-07-03	2006-05-22	ENSG00000198730	ENSG00000198730		"Tetratricopeptide (TTC) repeat domain containing"	16850	protein-coding gene	gene with protein product		609366	"SH2 domain binding protein 1 (tetratricopeptide repeat containing)", "Ctr9, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae)"	SH2BP1		8590280, 8636124	Standard	NM_014633		Approved	KIAA0155, TSBP, p150TSP	uc001mja.3	Q6PD62	OTTHUMG00000165789	ENST00000361367.2:c.2632C>T	11.37:g.10794725C>T	ENSP00000355013:p.Arg878Trp						p.R878W	NM_014633.3	NP_055448.1	Q6PD62	CTR9_HUMAN		all cancers(16;1.64e-07)|Epithelial(150;2.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)	21	3058	+			878			Lys-rich.		D3DQV8|Q15015	Missense_Mutation	SNP	ENST00000361367.2	37	c.2632C>T	CCDS7805.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.153222	0.78114	.	.	ENSG00000198730	ENST00000361367	T	0.56611	0.45	5.93	5.02	0.67125	.	0.000000	0.85682	D	0.000000	T	0.67757	0.2927	M	0.88105	2.93	0.80722	D	1	D	0.69078	0.997	P	0.50754	0.649	T	0.76080	-0.3090	10	0.87932	D	0	-14.0673	13.4006	0.60881	0.4282:0.5718:0.0:0.0	.	878	Q6PD62	CTR9_HUMAN	W	878	ENSP00000355013:R878W	ENSP00000355013:R878W	R	+	1	2	CTR9	10751301	1.000000	0.71417	1.000000	0.80357	0.934000	0.57294	4.213000	0.58520	1.505000	0.48720	0.591000	0.81541	CGG		0.413	CTR9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386215.1	NM_014633		25	34	0	0	0	1	0	25	34					T	10794725	C	T	10794725	3	4	435	1	0	0	0	0	1	0	0	0	4024	759	27	1	2714	1	CTR9	11	10794725	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	163391	10794725	124211791	5031	25956											
CTR9	9646	broad.mit.edu	37	chr11	10800531	10800531	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgccgaatcagatcacgaatCggagagaggatctgataatg	14	8	12	7	3	3	3	2	1	1	2	4	8	3	5	1	2	1	0	1	2	3	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:10800531C>T	ENST00000361367.2	+	25	3827	c.3401C>T	c.(3400-3402)tCg>tTg	p.S1134L		NM_014633.3	NP_055448.1	Q6PD62	CTR9_HUMAN	CTR9, Paf1/RNA polymerase II complex component	1134	Ser-rich.				cellular response to lipopolysaccharide (GO:0071222)|endodermal cell fate commitment (GO:0001711)|histone H2B ubiquitination (GO:0033523)|histone H3-K4 trimethylation (GO:0080182)|histone monoubiquitination (GO:0010390)|interleukin-6-mediated signaling pathway (GO:0070102)|JAK-STAT cascade (GO:0007259)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of histone H3-K79 methylation (GO:2001162)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	Cdc73/Paf1 complex (GO:0016593)|transcriptionally active chromatin (GO:0035327)				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(12)|ovary(2)|pancreas(1)|stomach(1)	40				all cancers(16;1.64e-07)|Epithelial(150;2.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)		GATCACGAATCGGAGAGAGGA	0.507																																						ENST00000361367.2																			0				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(12)|ovary(2)|pancreas(1)|stomach(1)	40						c.(3400-3402)tCg>tTg		CTR9, Paf1/RNA polymerase II complex component							108	115	112					11																	10800531		2201	4294	6495	SO:0001583	missense	9646				histone H2B ubiquitination|histone monoubiquitination	Cdc73/Paf1 complex|nuclear speck		g.chr11:10800531C>T	D63875	CCDS7805.1	11p15.3	2013-07-03	2013-07-03	2006-05-22	ENSG00000198730	ENSG00000198730		"Tetratricopeptide (TTC) repeat domain containing"	16850	protein-coding gene	gene with protein product		609366	"SH2 domain binding protein 1 (tetratricopeptide repeat containing)", "Ctr9, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae)"	SH2BP1		8590280, 8636124	Standard	NM_014633		Approved	KIAA0155, TSBP, p150TSP	uc001mja.3	Q6PD62	OTTHUMG00000165789	ENST00000361367.2:c.3401C>T	11.37:g.10800531C>T	ENSP00000355013:p.Ser1134Leu						p.S1134L	NM_014633.3	NP_055448.1	Q6PD62	CTR9_HUMAN		all cancers(16;1.64e-07)|Epithelial(150;2.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)	25	3827	+			1134			Ser-rich.		D3DQV8|Q15015	Missense_Mutation	SNP	ENST00000361367.2	37	c.3401C>T	CCDS7805.1	.	.	.	.	.	.	.	.	.	.	C	16.05	3.013961	0.54468	.	.	ENSG00000198730	ENST00000361367	T	0.46063	0.88	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	T	0.49949	0.1587	N	0.24115	0.695	0.80722	D	1	D	0.64830	0.994	P	0.61201	0.885	T	0.48234	-0.9053	10	0.44086	T	0.13	-10.3481	19.3906	0.94581	0.0:1.0:0.0:0.0	.	1134	Q6PD62	CTR9_HUMAN	L	1134	ENSP00000355013:S1134L	ENSP00000355013:S1134L	S	+	2	0	CTR9	10757107	1.000000	0.71417	0.536000	0.28039	0.132000	0.20833	7.263000	0.78421	2.591000	0.87537	0.655000	0.94253	TCG		0.507	CTR9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386215.1	NM_014633		27	52	0	0	0	1	0	27	52					T	10800531	C	T	10800531	3	4	435	1	0	0	0	0	1	0	0	0	4024	893	31	2	3499	2	CTR9	11	10800531	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	5806	10800531	124205985	5032	25957											
GALNTL4	374378	broad.mit.edu	37	chr11	11292756	11292756	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gcccgagcacttctgcaacaCcagctggaagccgaactcca	11	5	9	16	2	1	0	0	0	1	0	2	3	2	1	4	1	6	3	4	1	3	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:11292756C>T	ENST00000227756.4	-	11	2170	c.1759G>A	c.(1759-1761)Gtg>Atg	p.V587M		NM_198516.2	NP_940918.2	Q6P9A2	GLT18_HUMAN	polypeptide N-acetylgalactosaminyltransferase 18	587	Ricin B-type lectin. {ECO:0000255|PROSITE-ProRule:PRU00174}.				protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)										TTCTGCAACACCAGCTGGAAG	0.627																																						ENST00000227756.4																			0											c.(1759-1761)Gtg>Atg		UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 18							90	82	85					11																	11292756		2201	4294	6495	SO:0001583	missense	374378							g.chr11:11292756C>T	AK055111	CCDS7807.1	11p15	2014-03-13	2014-03-13	2013-01-25	ENSG00000110328	ENSG00000110328	2.4.1.41	"Glycosyltransferase family 2 domain containing"	30488	protein-coding gene	gene with protein product	"polypeptide GalNAc transferase 18"	615136	"UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 4", "UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 18"	GALNTL4		22186971	Standard	NM_198516		Approved	MGC71806, GALNT15, GalNAc-T18	uc001mjo.2	Q6P9A2	OTTHUMG00000165707	ENST00000227756.4:c.1759G>A	11.37:g.11292756C>T	ENSP00000227756:p.Val587Met						p.V587M	NM_198516.2	NP_940918.2					11	2170	-								O95903|Q8NDY9	Missense_Mutation	SNP	ENST00000227756.4	37	c.1759G>A	CCDS7807.1	.	.	.	.	.	.	.	.	.	.	c	18.35	3.604133	0.66445	.	.	ENSG00000110328	ENST00000227756	T	0.29655	1.56	4.84	4.84	0.62591	Ricin B-related lectin (1);Ricin B lectin (3);	0.084489	0.47455	D	0.000237	T	0.41213	0.1149	M	0.71206	2.165	0.29020	N	0.886315	P	0.45396	0.857	P	0.46144	0.505	T	0.46638	-0.9177	10	0.56958	D	0.05	.	14.6932	0.69101	0.0:1.0:0.0:0.0	.	587	Q6P9A2	GLTL4_HUMAN	M	587	ENSP00000227756:V587M	ENSP00000227756:V587M	V	-	1	0	GALNTL4	11249332	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	4.307000	0.59123	2.232000	0.73038	0.450000	0.29827	GTG		0.627	GALNT18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385848.1	NM_198516		16	31	0	0	0	1	0	16	31					T	11292756	C	T	11292756	3	4	435	1	0	0	0	0	1	0	0	0	6223	507	18	3	68	3	GALNTL4	11	11292756	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	492225	11292756	123713760	5033	25958											
USP47	55031	broad.mit.edu	37	chr11	11913565	11913565	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	catgacaggtttataggtccGcttccaagagaaggttctgg	10	11	12	8	1	1	2	0	1	1	1	3	3	3	2	2	4	0	3	2	4	4	5	rs188261952		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:11913565G>A	ENST00000399455.2	+	5	588	c.468G>A	c.(466-468)ccG>ccA	p.P156P	USP47_ENST00000527733.1_Silent_p.P136P|USP47_ENST00000539466.1_5'UTR|USP47_ENST00000339865.5_Silent_p.P68P	NM_001282659.1	NP_001269588.1	Q96K76	UBP47_HUMAN	ubiquitin specific peptidase 47	156					base-excision repair (GO:0006284)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|monoubiquitinated protein deubiquitination (GO:0035520)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of G2/M transition of mitotic cell cycle (GO:0010972)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell growth (GO:0030307)|response to drug (GO:0042493)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|SCF ubiquitin ligase complex (GO:0019005)	ubiquitin-specific protease activity (GO:0004843)|WD40-repeat domain binding (GO:0071987)			breast(4)|endometrium(7)|kidney(2)|large_intestine(8)|liver(2)|lung(14)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	46				Epithelial(150;0.000339)		TTATAGGTCCGCTTCCAAGAG	0.388													G|||	1	0.000199681	8e-04	0	5008	,	,		18482	0		0	False		,,,				2504	0					ENST00000339865.5																			0				breast(4)|endometrium(7)|kidney(2)|large_intestine(8)|liver(2)|lung(14)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	46						c.(202-204)ccG>ccA		ubiquitin specific peptidase 47		G		6,3756		0,6,1875	181	176	178		204	-10.2	1	11		178	0,8186		0,0,4093	no	coding-synonymous	USP47	NM_017944.3		0,6,5968	AA,AG,GG		0.0,0.1595,0.0502		68/1288	11913565	6,11942	1881	4093	5974	SO:0001819	synonymous_variant	55031				base-excision repair|cellular response to UV|monoubiquitinated protein deubiquitination|negative regulation of apoptosis|negative regulation of caspase activity|negative regulation of G2/M transition of mitotic cell cycle|negative regulation of transcription, DNA-dependent|positive regulation of cell growth|response to drug|ubiquitin-dependent protein catabolic process	cytoplasm|SCF ubiquitin ligase complex	ubiquitin thiolesterase activity|ubiquitin-specific protease activity|WD40-repeat domain binding	g.chr11:11913565G>A	AK027362	CCDS41619.1, CCDS60725.1	11p15.2	2008-02-05	2005-08-08		ENSG00000170242	ENSG00000170242		"Ubiquitin-specific peptidases"	20076	protein-coding gene	gene with protein product		614460	"Trf (TATA binding protein-related factor)-proximal homolog (Drosophila)", "ubiquitin specific protease 47"			12838346	Standard	XM_005252997		Approved		uc001mjr.3	Q96K76	OTTHUMG00000165685	ENST00000399455.2:c.468G>A	11.37:g.11913565G>A						USP47_ENST00000527733.1_Silent_p.P136P|USP47_ENST00000539466.1_5'UTR|USP47_ENST00000399455.2_Silent_p.P156P	p.P68P	NM_017944.3	NP_060414.3	Q96K76	UBP47_HUMAN		Epithelial(150;0.000339)	3	967	+			156					B3KXF5|E9PM46|Q658U0|Q86Y73|Q8TEP6|Q9BWI0|Q9NWN1	Silent	SNP	ENST00000399455.2	37	c.204G>A																																																																																					0.388	USP47-003	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000385853.2	NM_017944		64	73	0	0	0	1	0	64	73					A	11913565	G	A	11913565	2	1	435	1	0	0	0	0	0	0	0	1	17075	1074	38	1		1	USP47	11	11913565	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	620809	11913565	123092951	5034	25959											
DKK3	27122	broad.mit.edu	37	chr11	12029974	12029974	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccatcagttcctcaacctcGcggaacatctcattgagggt	9	11	8	13	2	3	1	3	1	1	0	7	2	5	2	3	2	2	1	3	2	2	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:12029974G>A	ENST00000396505.2	-	2	394	c.156C>T	c.(154-156)cgC>cgT	p.R52R	DKK3_ENST00000326932.4_Silent_p.R52R|DKK3_ENST00000525493.1_Silent_p.R52R|DKK3_ENST00000527132.1_5'UTR|DKK3_ENST00000450094.2_Silent_p.R52R	NM_015881.5	NP_056965.3	Q9UBP4	DKK3_HUMAN	dickkopf WNT signaling pathway inhibitor 3	52					adrenal gland development (GO:0030325)|anatomical structure morphogenesis (GO:0009653)|negative regulation of aldosterone biosynthetic process (GO:0032348)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cortisol biosynthetic process (GO:2000065)|negative regulation of transcription, DNA-templated (GO:0045892)|Wnt signaling pathway (GO:0016055)	extracellular space (GO:0005615)				breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(1)|pancreas(1)	8				Epithelial(150;0.000502)		CCTCAACCTCGCGGAACATCT	0.697																																						ENST00000396505.2																			0				breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(1)|pancreas(1)	8						c.(154-156)cgC>cgT		dickkopf WNT signaling pathway inhibitor 3							45	44	44					11																	12029974		2201	4294	6495	SO:0001819	synonymous_variant	27122				adrenal gland development|anatomical structure morphogenesis|negative regulation of aldosterone biosynthetic process|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cortisol biosynthetic process|negative regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	extracellular space		g.chr11:12029974G>A	AF177396	CCDS7808.1	11p15.3	2013-05-15	2013-05-15		ENSG00000050165	ENSG00000050165			2893	protein-coding gene	gene with protein product	"regulated in glioma"	605416	"dickkopf (Xenopus laevis) homolog 3", "dickkopf 3 homolog (Xenopus laevis)"			10570958	Standard	XM_006718177		Approved	REIC, RIG	uc001mjv.3	Q9UBP4	OTTHUMG00000165709	ENST00000396505.2:c.156C>T	11.37:g.12029974G>A						DKK3_ENST00000450094.2_Silent_p.R52R|DKK3_ENST00000326932.4_Silent_p.R52R|DKK3_ENST00000525493.1_Silent_p.R52R|DKK3_ENST00000527132.1_5'UTR	p.R52R	NM_015881.5	NP_056965.3	Q9UBP4	DKK3_HUMAN		Epithelial(150;0.000502)	2	394	-			52					A8K1I2|D3DQW1|Q9ULB7	Silent	SNP	ENST00000396505.2	37	c.156C>T	CCDS7808.1																																																																																				0.697	DKK3-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385863.1	NM_013253		9	13	0	0	0	1	0	9	13					A	12029974	G	A	12029974	2	1	435	1	0	0	0	0	0	0	0	1	4546	1074	38	1		1	DKK3	11	12029974	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	116409	12029974	122976542	5035	25960											
RRAS2	22800	broad.mit.edu	37	chr11	14303157	14303157	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gttttgcttacctgataaccCggacaagttcatggaaagct	11	12	9	9	1	1	1	1	1	0	0	1	3	1	3	2	2	4	4	2	2	4	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:14303157C>T	ENST00000256196.4	-	5	831	c.518G>A	c.(517-519)cGg>cAg	p.R173Q	RRAS2_ENST00000545643.1_Missense_Mutation_p.R179Q|RRAS2_ENST00000534746.1_Missense_Mutation_p.R96Q|RRAS2_ENST00000532814.1_Missense_Mutation_p.R96Q|RRAS2_ENST00000529237.1_Missense_Mutation_p.R96Q|RRAS2_ENST00000414023.2_Missense_Mutation_p.R96Q|RRAS2_ENST00000537760.1_Missense_Mutation_p.R138Q|RRAS2_ENST00000526063.1_Missense_Mutation_p.R96Q			P62070	RRAS2_HUMAN	related RAS viral (r-ras) oncogene homolog 2	173					osteoblast differentiation (GO:0001649)|positive regulation of cell migration (GO:0030335)|Ras protein signal transduction (GO:0007265)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			breast(3)|endometrium(4)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	12				Epithelial(150;0.203)		CCTGATAACCCGGACAAGTTC	0.348																																						ENST00000545643.1																			0				breast(3)|endometrium(4)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	12						c.(535-537)cGg>cAg		related RAS viral (r-ras) oncogene homolog 2							225	190	201					11																	14303157		2199	4294	6493	SO:0001583	missense	22800					endoplasmic reticulum|plasma membrane	GTP binding|GTPase activity|protein binding	g.chr11:14303157C>T	M31468	CCDS7814.1, CCDS44544.1, CCDS53603.1	11p15.2	2014-05-09			ENSG00000133818	ENSG00000133818			17271	protein-coding gene	gene with protein product		600098				2108320, 8052619	Standard	NM_012250		Approved	TC21	uc001mlf.4	P62070	OTTHUMG00000165756	ENST00000256196.4:c.518G>A	11.37:g.14303157C>T	ENSP00000256196:p.Arg173Gln					RRAS2_ENST00000526063.1_Missense_Mutation_p.R96Q|RRAS2_ENST00000534746.1_Missense_Mutation_p.R96Q|RRAS2_ENST00000256196.4_Missense_Mutation_p.R173Q|RRAS2_ENST00000537760.1_Missense_Mutation_p.R138Q|RRAS2_ENST00000414023.2_Missense_Mutation_p.R96Q|RRAS2_ENST00000532814.1_Missense_Mutation_p.R96Q|RRAS2_ENST00000529237.1_Missense_Mutation_p.R96Q	p.R179Q	NM_012250.5	NP_036382.2	P62070	RRAS2_HUMAN		Epithelial(150;0.203)	5	849	-			173					B2R9Z3|B7Z5Z2|B7Z6C4|B7Z7H6|P17082	Missense_Mutation	SNP	ENST00000256196.4	37	c.536G>A	CCDS7814.1	.	.	.	.	.	.	.	.	.	.	C	35	5.585787	0.96578	.	.	ENSG00000133818	ENST00000537760;ENST00000545643;ENST00000414023;ENST00000529237;ENST00000256196;ENST00000534746;ENST00000526063;ENST00000532814;ENST00000531807	T;T;T;T;T;T;T;T;T	0.78481	-1.18;-1.18;-1.18;-1.18;-1.18;-1.18;-1.18;-1.18;-1.18	5.07	5.07	0.68467	.	0.000000	0.85682	D	0.000000	D	0.87269	0.6135	M	0.73319	2.225	0.80722	D	1	D;D	0.89917	0.998;1.0	P;D	0.67725	0.783;0.953	D	0.88634	0.3171	10	0.87932	D	0	.	18.8082	0.92047	0.0:1.0:0.0:0.0	.	179;173	B7Z5Z2;P62070	.;RRAS2_HUMAN	Q	138;179;96;96;173;96;96;96;154	ENSP00000437547:R138Q;ENSP00000441722:R179Q;ENSP00000403282:R96Q;ENSP00000433230:R96Q;ENSP00000256196:R173Q;ENSP00000437083:R96Q;ENSP00000434104:R96Q;ENSP00000431954:R96Q;ENSP00000435453:R154Q	ENSP00000256196:R173Q	R	-	2	0	RRAS2	14259733	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.506000	0.81665	2.525000	0.85131	0.650000	0.86243	CGG		0.348	RRAS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386035.1	NM_012250		29	49	0	0	0	1	0	29	49					T	14303157	C	T	14303157	3	4	435	1	0	0	0	0	1	0	0	0	13677	652	23	2	104	2	RRAS2	11	14303157	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	2273183	14303157	120703359	5036	25961											
COPB1	1315	broad.mit.edu	37	chr11	14496079	14496079	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgaaccaaagctacatagcGcaatgcaatcttggtcagag	14	8	9	10	1	2	2	1	1	1	1	2	2	2	2	1	1	5	3	1	1	6	3	rs142993682		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:14496079G>A	ENST00000249923.3	-	14	1999	c.1699C>T	c.(1699-1701)Cgc>Tgc	p.R567C	COPB1_ENST00000526191.1_5'UTR|COPB1_ENST00000439561.2_Missense_Mutation_p.R567C	NM_016451.4	NP_057535.1	P53618	COPB_HUMAN	coatomer protein complex, subunit beta 1	567					COPI coating of Golgi vesicle (GO:0048205)|intra-Golgi vesicle-mediated transport (GO:0006891)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|viral process (GO:0016032)	COPI vesicle coat (GO:0030126)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi-associated vesicle (GO:0005798)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	36						GCTACATAGCGCAATGCAATC	0.403													G|||	1	0.000199681	0	0.0014	5008	,	,		18647	0		0	False		,,,				2504	0					ENST00000249923.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	36						c.(1699-1701)Cgc>Tgc		coatomer protein complex, subunit beta 1		G	CYS/ARG,CYS/ARG,CYS/ARG	0,4400		0,0,2200	137	136	137		1699,1699,1699	6	1	11	dbSNP_134	137	2,8586	2.2+/-6.3	0,2,4292	yes	missense,missense,missense	COPB1	NM_001144061.1,NM_001144062.1,NM_016451.4	180,180,180	0,2,6492	AA,AG,GG		0.0233,0.0,0.0154	probably-damaging,probably-damaging,probably-damaging	567/954,567/954,567/954	14496079	2,12986	2200	4294	6494	SO:0001583	missense	1315				COPI coating of Golgi vesicle|interspecies interaction between organisms|intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol|ER-Golgi intermediate compartment|plasma membrane	protein binding|structural molecule activity	g.chr11:14496079G>A	BC037280	CCDS7815.1	11p15.2	2011-05-20	2006-06-30	2006-06-30	ENSG00000129083	ENSG00000129083			2231	protein-coding gene	gene with protein product		600959	"coatomer protein complex, subunit beta"	COPB		7982906	Standard	NM_016451		Approved		uc001mlg.2	P53618	OTTHUMG00000165824	ENST00000249923.3:c.1699C>T	11.37:g.14496079G>A	ENSP00000249923:p.Arg567Cys					COPB1_ENST00000439561.2_Missense_Mutation_p.R567C|COPB1_ENST00000526191.1_5'UTR	p.R567C	NM_016451.4	NP_057535.1	P53618	COPB_HUMAN			14	1999	-			567					D3DQX0|Q6GTT7|Q9NTK2|Q9UNW7	Missense_Mutation	SNP	ENST00000249923.3	37	c.1699C>T	CCDS7815.1	.	.	.	.	.	.	.	.	.	.	G	34	5.396003	0.96009	0.0	2.33E-4	ENSG00000129083	ENST00000249923;ENST00000439561	T;T	0.13657	2.57;2.57	6.03	6.03	0.97812	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.43743	0.1261	M	0.79805	2.47	0.80722	D	1	D	0.89917	1.0	D	0.73708	0.981	T	0.28235	-1.0050	10	0.87932	D	0	-6.8813	20.5666	0.99351	0.0:0.0:1.0:0.0	.	567	P53618	COPB_HUMAN	C	567	ENSP00000249923:R567C;ENSP00000397873:R567C	ENSP00000249923:R567C	R	-	1	0	COPB1	14452655	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.591000	0.98241	2.854000	0.98071	0.655000	0.94253	CGC		0.403	COPB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386410.1	NM_016451		32	45	0	0	0	1	0	32	45					A	14496079	G	A	14496079	3	1	435	1	0	0	0	0	1	0	0	0	3728	1087	38	1	1198	1	COPB1	11	14496079	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	192922	14496079	120510437	5037	25962											
PSMA1	5682	broad.mit.edu	37	chr11	14539500	14539500	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	accttgtttaacagcttccaTtgcatattcaatttgatgaa	12	16	5	8	0	1	2	1	2	0	0	2	2	2	2	2	0	3	3	2	0	4	8			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:14539500T>C	ENST00000396394.2	-	3	472	c.76A>G	c.(76-78)Atg>Gtg	p.M26V	PSMA1_ENST00000418988.2_Missense_Mutation_p.M32V|PSMA1_ENST00000555531.1_Missense_Mutation_p.M26V|PSMA1_ENST00000530457.1_Start_Codon_SNP_p.M1V|PSMA1_ENST00000396393.1_Missense_Mutation_p.M26V|PSMA1_ENST00000419365.2_Missense_Mutation_p.M26V	NM_002786.3	NP_002777.1	P25786	PSA1_HUMAN	proteasome (prosome, macropain) subunit, alpha type, 1	26					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	centrosome (GO:0005813)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|polysome (GO:0005844)|proteasome complex (GO:0000502)|proteasome core complex (GO:0005839)|proteasome core complex, alpha-subunit complex (GO:0019773)	RNA binding (GO:0003723)|threonine-type endopeptidase activity (GO:0004298)			large_intestine(1)|skin(1)|upper_aerodigestive_tract(1)	3						ACAGCTTCCATTGCATATTCA	0.299																																						ENST00000396394.2																			0				large_intestine(1)|skin(1)|upper_aerodigestive_tract(1)	3						c.(76-78)Atg>Gtg		proteasome (prosome, macropain) subunit, alpha type, 1							78	77	77					11																	14539500		2200	4293	6493	SO:0001583	missense	5682				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|polysome|proteasome core complex, alpha-subunit complex	protein binding|RNA binding|threonine-type endopeptidase activity	g.chr11:14539500T>C	X61969	CCDS7816.1, CCDS31431.1	11p15.1	2005-10-10			ENSG00000129084	ENSG00000129084		"Proteasome (prosome, macropain) subunits"	9530	protein-coding gene	gene with protein product		602854				1398136, 2025653	Standard	NM_148976		Approved	HC2, NU, PROS30, MGC14542, MGC14575, MGC14751, MGC1667, MGC21459, MGC22853, MGC23915	uc001mlk.3	P25786	OTTHUMG00000165825	ENST00000396394.2:c.76A>G	11.37:g.14539500T>C	ENSP00000379676:p.Met26Val					PSMA1_ENST00000555531.1_Missense_Mutation_p.M26V|PSMA1_ENST00000418988.2_Missense_Mutation_p.M32V|PSMA1_ENST00000396393.1_Missense_Mutation_p.M26V|PSMA1_ENST00000419365.2_Missense_Mutation_p.M26V|PSMA1_ENST00000530457.1_Start_Codon_SNP_p.M1V	p.M26V	NM_002786.3	NP_002777.1	P25786	PSA1_HUMAN			3	472	-			26					A8K400|Q53YE8|Q9BRV9	Missense_Mutation	SNP	ENST00000396394.2	37	c.76A>G	CCDS7816.1	.	.	.	.	.	.	.	.	.	.	T	19.85	3.903916	0.72754	.	.	ENSG00000129084	ENST00000419365;ENST00000396394;ENST00000396393;ENST00000530457;ENST00000418988;ENST00000533068;ENST00000532256	T;T;T;T;T	0.42131	0.98;1.01;1.01;1.01;1.01	5.25	5.25	0.73442	Proteasome, alpha-subunit, conserved site (3);	0.000000	0.85682	D	0.000000	T	0.49592	0.1566	M	0.70275	2.135	0.80722	D	1	B;P;B	0.38395	0.329;0.629;0.389	B;B;B	0.42555	0.21;0.391;0.305	T	0.53063	-0.8491	10	0.49607	T	0.09	-8.7368	15.1476	0.72671	0.0:0.0:0.0:1.0	.	26;32;26	B4E0X6;P25786-2;P25786	.;.;PSA1_HUMAN	V	26;26;26;1;32;1;1	ENSP00000392242:M26V;ENSP00000379676:M26V;ENSP00000379675:M26V;ENSP00000441166:M1V;ENSP00000414359:M32V	ENSP00000379675:M26V	M	-	1	0	PSMA1	14496076	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.329000	0.79170	1.981000	0.57761	0.533000	0.62120	ATG		0.299	PSMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386421.3	NM_002786		11	41	0	0	0	1	0	11	41					C	14539500	T	C	14539500	3	2	435	1	0	0	0	0	1	0	0	0	12666	1493	52	4	797	4	PSMA1	11	14539500	Missense_Mutation	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	43421	14539500	120467016	5038	25963											
PDE3B	5140	broad.mit.edu	37	chr11	14665692	14665692	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ggatggggccggctcgccccCcgagagtctgaggaacggct	6	5	17	13	4	1	2	0	1	1	1	2	5	1	4	4	6	1	2	4	6	1	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:14665692C>T	ENST00000282096.4	+	1	424	c.71C>T	c.(70-72)cCc>cTc	p.P24L	PSMA1_ENST00000418988.2_5'Flank|PDE3B_ENST00000455098.2_Missense_Mutation_p.P24L	NM_000922.3	NP_000913.2	Q13370	PDE3B_HUMAN	phosphodiesterase 3B, cGMP-inhibited	24	Interaction with RAPGEF3.				angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cellular response to insulin stimulus (GO:0032869)|endocrine pancreas development (GO:0031018)|glucose homeostasis (GO:0042593)|insulin receptor signaling pathway (GO:0008286)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cAMP-mediated signaling (GO:0043951)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell adhesion mediated by integrin (GO:0033629)|negative regulation of lipid catabolic process (GO:0050995)|regulation of insulin secretion (GO:0050796)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|guanyl-nucleotide exchange factor complex (GO:0032045)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity (GO:0004119)|metal ion binding (GO:0046872)|protein kinase B binding (GO:0043422)			NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(15)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39					Caffeine(DB00201)	GGCTCGCCCCCCGAGAGTCTG	0.697																																						ENST00000282096.4																			0				NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(15)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						c.(70-72)cCc>cTc		phosphodiesterase 3B, cGMP-inhibited							8	9	9					11																	14665692		1899	3852	5751	SO:0001583	missense	5140				cAMP catabolic process|insulin receptor signaling pathway|negative regulation of lipid catabolic process|platelet activation	cytosol|endoplasmic reticulum|Golgi apparatus|guanyl-nucleotide exchange factor complex|integral to membrane|microsome	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding|protein kinase B binding	g.chr11:14665692C>T	U38178	CCDS7817.1	11p15.2	2008-03-18			ENSG00000152270	ENSG00000152270	3.1.4.17	"Phosphodiesterases"	8779	protein-coding gene	gene with protein product		602047				8884271, 16395595	Standard	NM_000922		Approved	HcGIP1	uc001mln.3	Q13370	OTTHUMG00000165898	ENST00000282096.4:c.71C>T	11.37:g.14665692C>T	ENSP00000282096:p.Pro24Leu					PDE3B_ENST00000455098.2_Missense_Mutation_p.P24L	p.P24L	NM_000922.3	NP_000913.2	Q13370	PDE3B_HUMAN			1	424	+			24					B7ZM37|O00639|Q14408|Q6SEI4	Missense_Mutation	SNP	ENST00000282096.4	37	c.71C>T	CCDS7817.1	.	.	.	.	.	.	.	.	.	.	C	13.55	2.270528	0.40194	.	.	ENSG00000152270	ENST00000282096;ENST00000455098	T;T	0.61274	0.15;0.12	3.36	1.2	0.21068	.	1.219970	0.06335	U	0.706836	T	0.32526	0.0832	N	0.19112	0.55	0.37247	D	0.906386	B;P;P	0.39480	0.006;0.675;0.675	B;B;B	0.25759	0.002;0.063;0.063	T	0.42932	-0.9422	10	0.59425	D	0.04	.	1.4222	0.02314	0.166:0.4476:0.1632:0.2232	.	24;24;24	B7ZM37;Q13370;A7E2E5	.;PDE3B_HUMAN;.	L	24	ENSP00000282096:P24L;ENSP00000388644:P24L	ENSP00000282096:P24L	P	+	2	0	PDE3B	14622268	0.993000	0.37304	1.000000	0.80357	0.683000	0.39861	1.701000	0.37825	0.532000	0.28657	0.313000	0.20887	CCC		0.697	PDE3B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000386974.1	NM_000922		5	4	0	0	0	1	0	5	4					T	14665692	C	T	14665692	3	4	435	1	0	0	0	0	1	0	0	0	11638	623	22	3	73	3	PDE3B	11	14665692	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	126192	14665692	120340824	5039	25964											
PDE3B	5140	broad.mit.edu	37	chr11	14840740	14840740	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatcagatggtacagattgcTgcagtggaaaatcaggtgag	14	9	13	5	0	2	3	2	1	0	2	2	4	2	4	0	3	3	3	0	3	4	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:14840740T>G	ENST00000282096.4	+	7	2145	c.1792T>G	c.(1792-1794)Tgc>Ggc	p.C598G	PDE3B_ENST00000455098.2_Missense_Mutation_p.C547G	NM_000922.3	NP_000913.2	Q13370	PDE3B_HUMAN	phosphodiesterase 3B, cGMP-inhibited	598					angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cellular response to insulin stimulus (GO:0032869)|endocrine pancreas development (GO:0031018)|glucose homeostasis (GO:0042593)|insulin receptor signaling pathway (GO:0008286)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cAMP-mediated signaling (GO:0043951)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell adhesion mediated by integrin (GO:0033629)|negative regulation of lipid catabolic process (GO:0050995)|regulation of insulin secretion (GO:0050796)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|guanyl-nucleotide exchange factor complex (GO:0032045)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity (GO:0004119)|metal ion binding (GO:0046872)|protein kinase B binding (GO:0043422)			NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(15)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39					Caffeine(DB00201)	TACAGATTGCTGCAGTGGAAA	0.299																																						ENST00000282096.4																			0				NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(15)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						c.(1792-1794)Tgc>Ggc		phosphodiesterase 3B, cGMP-inhibited							77	87	83					11																	14840740		2200	4293	6493	SO:0001583	missense	5140				cAMP catabolic process|insulin receptor signaling pathway|negative regulation of lipid catabolic process|platelet activation	cytosol|endoplasmic reticulum|Golgi apparatus|guanyl-nucleotide exchange factor complex|integral to membrane|microsome	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding|protein kinase B binding	g.chr11:14840740T>G	U38178	CCDS7817.1	11p15.2	2008-03-18			ENSG00000152270	ENSG00000152270	3.1.4.17	"Phosphodiesterases"	8779	protein-coding gene	gene with protein product		602047				8884271, 16395595	Standard	NM_000922		Approved	HcGIP1	uc001mln.3	Q13370	OTTHUMG00000165898	ENST00000282096.4:c.1792T>G	11.37:g.14840740T>G	ENSP00000282096:p.Cys598Gly					PDE3B_ENST00000455098.2_Missense_Mutation_p.C547G	p.C598G	NM_000922.3	NP_000913.2	Q13370	PDE3B_HUMAN			7	2145	+			598					B7ZM37|O00639|Q14408|Q6SEI4	Missense_Mutation	SNP	ENST00000282096.4	37	c.1792T>G	CCDS7817.1	.	.	.	.	.	.	.	.	.	.	T	1.009	-0.688521	0.03328	.	.	ENSG00000152270	ENST00000282096;ENST00000455098	T;T	0.60548	0.18;0.19	5.86	3.99	0.46301	.	.	.	.	.	T	0.35278	0.0926	N	0.08118	0	0.09310	N	1	B;B	0.12013	0.005;0.005	B;B	0.12837	0.008;0.005	T	0.19128	-1.0315	9	0.21014	T	0.42	.	10.1804	0.42963	0.0:0.8423:0.0:0.1577	.	547;598	B7ZM37;Q13370	.;PDE3B_HUMAN	G	598;547	ENSP00000282096:C598G;ENSP00000388644:C547G	ENSP00000282096:C598G	C	+	1	0	PDE3B	14797316	0.278000	0.24230	0.648000	0.29521	0.002000	0.02628	1.122000	0.31295	0.808000	0.34231	-0.472000	0.04984	TGC		0.299	PDE3B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000386974.1	NM_000922		4	84	0	0	0	1	0	4	84					G	14840740	T	G	14840740	3	3	435	1	0	0	0	0	1	0	0	0	11638	1580	55	5	1818	5	PDE3B	11	14840740	Missense_Mutation	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	175048	14840740	120165776	5040	25965											
CALCA	796	broad.mit.edu	37	chr11	14989365	14989365	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ccagccgatgagtcacacagGtggcagtgtcacaggctctc	9	7	12	13	1	3	1	2	1	1	0	4	2	3	1	2	3	1	2	2	3	0	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:14989365G>A	ENST00000486207.1	-	3	271	c.263C>T	c.(262-264)aCc>aTc	p.T88I	CALCA_ENST00000361010.3_Missense_Mutation_p.T88I|CALCB_ENST00000523376.1_Intron			P06881	CALCA_HUMAN	calcitonin-related polypeptide alpha	88					activation of adenylate cyclase activity (GO:0007190)|cell-cell signaling (GO:0007267)|cytosolic calcium ion homeostasis (GO:0051480)|endothelial cell migration (GO:0043542)|endothelial cell proliferation (GO:0001935)|G-protein coupled receptor internalization (GO:0002031)|leukocyte cell-cell adhesion (GO:0007159)|negative regulation of blood pressure (GO:0045776)|negative regulation of bone resorption (GO:0045779)|negative regulation of calcium ion transport into cytosol (GO:0010523)|negative regulation of osteoclast differentiation (GO:0045671)|neurological system process involved in regulation of systemic arterial blood pressure (GO:0001976)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of interleukin-1 alpha production (GO:0032730)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of vasodilation (GO:0045909)|protein phosphorylation (GO:0006468)|receptor internalization (GO:0031623)|regulation of blood pressure (GO:0008217)|vasculature development (GO:0001944)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	protein complex binding (GO:0032403)|receptor binding (GO:0005102)			central_nervous_system(1)|large_intestine(4)|lung(2)|upper_aerodigestive_tract(1)	8						AGTCACACAGGTGGCAGTGTC	0.542																																						ENST00000361010.3																			0				central_nervous_system(1)|large_intestine(4)|lung(2)|upper_aerodigestive_tract(1)	8						c.(262-264)aCc>aTc		calcitonin-related polypeptide alpha	Phentolamine(DB00692)						77	75	75					11																	14989365		2200	4294	6494	SO:0001583	missense	796				activation of adenylate cyclase activity|cell-cell signaling|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|endothelial cell migration|endothelial cell proliferation|leukocyte cell-cell adhesion|negative regulation of blood pressure|negative regulation of bone resorption|negative regulation of calcium ion transport into cytosol|negative regulation of osteoclast differentiation|neurological system process involved in regulation of systemic arterial blood pressure|positive regulation of interleukin-1 alpha production|positive regulation of interleukin-8 production|positive regulation of macrophage differentiation|positive regulation of vasodilation|regulation of blood pressure|vasculature development|vasodilation	cytosol|extracellular space	hormone activity	g.chr11:14989365G>A	X00356, M64486	CCDS7819.1, CCDS31432.1	11p15.2	2014-09-17	2008-02-20		ENSG00000110680	ENSG00000110680		"Endogenous ligands"	1437	protein-coding gene	gene with protein product	"calcitonin"	114130	"calcitonin 1"	CALC1		6546550	Standard	NM_001033953		Approved		uc001mlw.1	P01258	OTTHUMG00000159731	ENST00000486207.1:c.263C>T	11.37:g.14989365G>A	ENSP00000417833:p.Thr88Ile					CALCA_ENST00000486207.1_Missense_Mutation_p.T88I|CALCB_ENST00000523376.1_Intron	p.T88I	NM_001033953.2	NP_001029125.1	P06881	CALCA_HUMAN			4	337	-			88					Q93048|Q9UCP0	Missense_Mutation	SNP	ENST00000486207.1	37	c.263C>T	CCDS31432.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.172157	0.78452	.	.	ENSG00000110680	ENST00000486207;ENST00000361010	T;T	0.48836	0.8;0.8	4.69	3.77	0.43336	Calcitonin peptide-like (1);Calcitonin, conserved site (1);	.	.	.	.	T	0.71796	0.3382	M	0.87827	2.91	0.80722	D	1	D	0.71674	0.998	D	0.74674	0.984	T	0.79313	-0.1855	9	0.66056	D	0.02	.	15.9365	0.79712	0.0:0.1359:0.8641:0.0	.	88	P06881	CALCA_HUMAN	I	88	ENSP00000417833:T88I;ENSP00000354286:T88I	ENSP00000354286:T88I	T	-	2	0	CALCA	14945941	1.000000	0.71417	0.997000	0.53966	0.677000	0.39632	6.079000	0.71291	1.575000	0.49775	0.655000	0.94253	ACC		0.542	CALCA-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357068.1	NM_001741		3	47	0	0	0	1	0	3	47					A	14989365	G	A	14989365	3	1	435	1	0	0	0	0	1	0	0	0	2575	1261	44	3	127	3	CALCA	11	14989365	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	148625	14989365	120017151	5041	25966											
SOX6	55553	broad.mit.edu	37	chr11	16010577	16010577	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atgttggagttatgcatgtcGgggaaggcctgaaggatttt	9	13	15	4	1	0	1	0	1	0	0	1	4	0	4	1	5	1	3	1	5	3	4	rs375479510		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:16010577G>A	ENST00000352083.6	-	14	2009	c.1932C>T	c.(1930-1932)ccC>ccT	p.P644P	SOX6_ENST00000528252.1_Silent_p.P617P|SOX6_ENST00000316399.6_Silent_p.P624P|SOX6_ENST00000396356.3_Silent_p.P624P|SOX6_ENST00000527619.1_Silent_p.P620P|SOX6_ENST00000528429.1_Silent_p.P644P			P35712	SOX6_HUMAN	SRY (sex determining region Y)-box 6	644					astrocyte differentiation (GO:0048708)|cardiac muscle cell differentiation (GO:0055007)|cartilage development (GO:0051216)|cell morphogenesis (GO:0000902)|cellular response to transforming growth factor beta stimulus (GO:0071560)|erythrocyte development (GO:0048821)|gene silencing (GO:0016458)|in utero embryonic development (GO:0001701)|muscle organ development (GO:0007517)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|oligodendrocyte cell fate specification (GO:0021778)|positive regulation of cartilage development (GO:0061036)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of mesenchymal stem cell differentiation (GO:2000741)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic development (GO:0009791)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)	p.P624P(1)|p.P620P(1)		NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|pancreas(1)|prostate(2)	43						TATGCATGTCGGGGAAGGCCT	0.522											OREG0020800	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000352083.6																			2	Substitution - coding silent(2)	p.P624P(1)|p.P620P(1)	lung(2)	NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|pancreas(1)|prostate(2)	43						c.(1930-1932)ccC>ccT		SRY (sex determining region Y)-box 6		G	,,,	0,4400		0,0,2200	185	171	176		1851,1971,1860,1872	-9.7	0.5	11		176	1,8587	1.2+/-3.3	0,1,4293	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	SOX6	NM_001145811.1,NM_001145819.1,NM_017508.2,NM_033326.3	,,,	0,1,6493	AA,AG,GG		0.0116,0.0,0.0077	,,,	617/802,657/842,620/805,624/809	16010577	1,12987	2200	4294	6494	SO:0001819	synonymous_variant	55553				muscle organ development	nucleus	sequence-specific DNA binding transcription factor activity	g.chr11:16010577G>A	AF309034	CCDS7821.1, CCDS53604.1, CCDS53605.1	11p15.3	2008-02-05						"SRY (sex determining region Y)-boxes"	16421	protein-coding gene	gene with protein product		607257				11255018	Standard	NM_033326		Approved		uc001mme.3	P35712		ENST00000352083.6:c.1932C>T	11.37:g.16010577G>A			OREG0020800	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	707	SOX6_ENST00000396356.3_Silent_p.P624P|SOX6_ENST00000316399.6_Silent_p.P624P|SOX6_ENST00000527619.1_Silent_p.P620P|SOX6_ENST00000528252.1_Silent_p.P617P|SOX6_ENST00000528429.1_Silent_p.P644P	p.P644P			P35712	SOX6_HUMAN			14	2009	-			644					Q86VX7|Q9BXQ3|Q9BXQ4|Q9BXQ5|Q9H0I8	Silent	SNP	ENST00000352083.6	37	c.1932C>T																																																																																					0.522	SOX6-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000386811.1	NM_033326		68	90	0	0	0	1	0	68	90					A	16010577	G	A	16010577	2	1	435	1	0	0	0	0	0	0	0	1	14955	1103	39	2		2	SOX6	11	16010577	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	1021212	16010577	118995939	5042	25967											
PIK3C2A	5286	broad.mit.edu	37	chr11	17112906	17112906	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cattgaatgtcggattcctcGtttttcgtgaaattttggtt	7	19	9	6	3	0	2	0	2	0	0	4	3	1	3	1	2	0	2	1	2	2	7			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:17112906G>A	ENST00000265970.7	-	31	4852	c.4853C>T	c.(4852-4854)aCg>aTg	p.T1618M	PIK3C2A_ENST00000531428.1_5'UTR|PIK3C2A_ENST00000540361.1_Missense_Mutation_p.T1238M	NM_002645.2	NP_002636.2	O00443	P3C2A_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 alpha	1618	C2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				clathrin coat assembly (GO:0048268)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|exocytosis (GO:0006887)|insulin receptor signaling pathway (GO:0008286)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|small molecule metabolic process (GO:0044281)|vascular smooth muscle contraction (GO:0014829)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol binding (GO:0035091)			central_nervous_system(4)|endometrium(5)|kidney(5)|large_intestine(7)|lung(24)|ovary(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	58						CGGATTCCTCGTTTTTCGTGA	0.328																																						ENST00000265970.7																			0				central_nervous_system(4)|endometrium(5)|kidney(5)|large_intestine(7)|lung(24)|ovary(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	58						c.(4852-4854)aCg>aTg		phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 alpha	Phosphatidylserine(DB00144)						236	224	228					11																	17112906		2200	4294	6494	SO:0001583	missense	5286				cell communication|phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling	clathrin-coated vesicle|Golgi apparatus|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity	g.chr11:17112906G>A	Y13367	CCDS7824.1	11p15.5-p14	2012-07-13	2012-07-13			ENSG00000011405	2.7.1.154		8971	protein-coding gene	gene with protein product		603601	"phosphoinositide-3-kinase, class 2, alpha polypeptide"			9337861	Standard	NM_002645		Approved	PI3K-C2alpha	uc001mmq.4	O00443		ENST00000265970.7:c.4853C>T	11.37:g.17112906G>A	ENSP00000265970:p.Thr1618Met					PIK3C2A_ENST00000540361.1_Missense_Mutation_p.T1238M|PIK3C2A_ENST00000531428.1_5'UTR	p.T1618M	NM_002645.2	NP_002636.2	O00443	P3C2A_HUMAN			31	4852	-			1618			C2.		B0LPH2|B4E2G4|Q14CQ9	Missense_Mutation	SNP	ENST00000265970.7	37	c.4853C>T	CCDS7824.1	.	.	.	.	.	.	.	.	.	.	G	23.5	4.421785	0.83559	.	.	ENSG00000011405	ENST00000265970;ENST00000540361	T;T	0.12039	2.72;2.72	5.31	5.31	0.75309	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	T	0.49830	0.1580	M	0.92649	3.33	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	T	0.63005	-0.6733	10	0.87932	D	0	-14.2901	19.0068	0.92854	0.0:0.0:1.0:0.0	.	1238;1618	F5H2B0;O00443	.;P3C2A_HUMAN	M	1618;1238	ENSP00000265970:T1618M;ENSP00000438687:T1238M	ENSP00000265970:T1618M	T	-	2	0	PIK3C2A	17069482	1.000000	0.71417	0.998000	0.56505	0.978000	0.69477	9.560000	0.98139	2.482000	0.83794	0.655000	0.94253	ACG		0.328	PIK3C2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387553.1	NM_002645		28	52	0	0	0	1	0	28	52					A	17112906	G	A	17112906	3	1	435	1	0	0	0	0	1	0	0	0	11909	1145	40	1	215	1	PIK3C2A	11	17112906	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	1102329	17112906	117893610	5043	25968											
NUCB2	4925	broad.mit.edu	37	chr11	17351800	17351800	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aacaaaaagaagagctacaaCgtcagcatgatcaactggag	19	5	9	8	1	2	3	2	1	0	2	2	4	2	4	0	1	6	2	0	1	7	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:17351800C>T	ENST00000529010.1	+	12	1348	c.1129C>T	c.(1129-1131)Cgt>Tgt	p.R377C	NUCB2_ENST00000458064.2_Missense_Mutation_p.R347C|NUCB2_ENST00000323688.6_Missense_Mutation_p.R377C	NM_005013.2	NP_005004	P80303	NUCB2_HUMAN	nucleobindin 2	377	Binds to necdin. {ECO:0000250}.					cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nuclear outer membrane (GO:0005640)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)			kidney(1)|large_intestine(2)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14						AGAGCTACAACGTCAGCATGA	0.338																																						ENST00000529010.1																			0				kidney(1)|large_intestine(2)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14						c.(1129-1131)Cgt>Tgt		nucleobindin 2							59	56	57					11																	17351800		1881	4107	5988	SO:0001583	missense	4925					cytosol|ER-Golgi intermediate compartment|extracellular space|Golgi apparatus|plasma membrane	calcium ion binding|DNA binding	g.chr11:17351800C>T	AF052642	CCDS41623.1	11p15.1	2013-01-10						"EF-hand domain containing"	8044	protein-coding gene	gene with protein product		608020				7811391	Standard	NM_005013		Approved	NEFA	uc001mmw.3	P80303		ENST00000529010.1:c.1129C>T	11.37:g.17351800C>T	ENSP00000436455:p.Arg377Cys					NUCB2_ENST00000323688.6_Missense_Mutation_p.R377C|NUCB2_ENST00000458064.2_Missense_Mutation_p.R347C	p.R377C	NM_005013.2	NP_005004.1	P80303	NUCB2_HUMAN			12	1348	+			377			Binds to necdin (By similarity).		A8K642|D3DQX5|Q8NFT5	Missense_Mutation	SNP	ENST00000529010.1	37	c.1129C>T	CCDS41623.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.91|19.91	3.914631|3.914631	0.72983|0.72983	.|.	.|.	ENSG00000070081|ENSG00000070081	ENST00000323688;ENST00000529010;ENST00000458064|ENST00000527580	T;T;T|.	0.19806|.	2.15;2.15;2.12|.	5.7|5.7	5.7|5.7	0.88788|0.88788	.|.	0.045272|.	0.85682|.	D|.	0.000000|.	T|T	0.70850|0.70850	0.3271|0.3271	M|M	0.61703|0.61703	1.905|1.905	0.80722|0.80722	D|D	1|1	D;D|.	0.71674|.	0.998;0.997|.	P;P|.	0.56278|.	0.795;0.65|.	T|T	0.68697|0.68697	-0.5340|-0.5340	10|5	0.87932|.	D|.	0|.	-9.7944|-9.7944	14.5436|14.5436	0.68013|0.68013	0.1815:0.8185:0.0:0.0|0.1815:0.8185:0.0:0.0	.|.	347;377|.	E7EV42;P80303|.	.;NUCB2_HUMAN|.	C|M	377;377;347|154	ENSP00000320168:R377C;ENSP00000436455:R377C;ENSP00000408702:R347C|.	ENSP00000320168:R377C|.	R|T	+|+	1|2	0|0	NUCB2|NUCB2	17308376|17308376	1.000000|1.000000	0.71417|0.71417	0.993000|0.993000	0.49108|0.49108	0.985000|0.985000	0.73830|0.73830	3.558000|3.558000	0.53749|0.53749	2.692000|2.692000	0.91855|0.91855	0.655000|0.655000	0.94253|0.94253	CGT|ACG		0.338	NUCB2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000387614.2	NM_005013		15	22	0	0	0	1	0	15	22					T	17351800	C	T	17351800	3	4	435	1	0	0	0	0	1	0	0	0	10719	536	19	1	1167	1	NUCB2	11	17351800	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	238894	17351800	117654716	5044	25969											
ABCC8	6833	broad.mit.edu	37	chr11	17418790	17418790	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttttcaggagcccatggatgCgcttcacagcccccagctgg	7	9	11	14	1	2	0	2	0	0	0	2	2	2	2	3	3	4	2	3	3	0	3	rs372153432		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:17418790C>T	ENST00000389817.3	-	32	4006	c.3938G>A	c.(3937-3939)cGc>cAc	p.R1313H	ABCC8_ENST00000302539.4_Missense_Mutation_p.R1314H			Q09428	ABCC8_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 8	1313					carbohydrate metabolic process (GO:0005975)|energy reserve metabolic process (GO:0006112)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|ion channel binding (GO:0044325)|potassium ion transmembrane transporter activity (GO:0015079)|sulfonylurea receptor activity (GO:0008281)			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Chlorpropamide(DB00672)|Gliclazide(DB01120)|Glimepiride(DB00222)|Glipizide(DB01067)|Gliquidone(DB01251)|Glyburide(DB01016)|Glycodiazine(DB01382)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)|Tolbutamide(DB01124)	CCCATGGATGCGCTTCACAGC	0.617																																						ENST00000302539.4																			0				NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67	GRCh37	CM077499	ABCC8	M		c.(3940-3942)cGc>cAc		ATP-binding cassette, sub-family C (CFTR/MRP), member 8	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)	C	HIS/ARG	1,4399	2.1+/-5.4	0,1,2199	73	71	72		3938	5.1	1	11		72	0,8586		0,0,4293	no	missense	ABCC8	NM_000352.3	29	0,1,6492	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	1313/1582	17418790	1,12985	2200	4293	6493	SO:0001583	missense	6833				carbohydrate metabolic process|energy reserve metabolic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity	g.chr11:17418790C>T	L78207	CCDS31437.1, CCDS73264.1	11p15.1	2014-09-17			ENSG00000006071	ENSG00000006071		"ATP binding cassette transporters / subfamily C"	59	protein-coding gene	gene with protein product	"sulfonylurea receptor (hyperinsulinemia)"	600509		SUR, HRINS		7920639, 7716548	Standard	NM_000352		Approved	HI, PHHI, SUR1, MRP8, ABC36, HHF1, TNDM2	uc001mnc.3	Q09428	OTTHUMG00000166316	ENST00000389817.3:c.3938G>A	11.37:g.17418790C>T	ENSP00000374467:p.Arg1313His					ABCC8_ENST00000389817.3_Missense_Mutation_p.R1313H	p.R1314H	NM_000352.3	NP_000343.2	Q09428	ABCC8_HUMAN		READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	32	4066	-			1313					A6NMX8|E3UYX6|O75948|Q16583	Missense_Mutation	SNP	ENST00000389817.3	37	c.3941G>A	CCDS31437.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.365127	0.82463	2.27E-4	0.0	ENSG00000006071	ENST00000389817;ENST00000302539	D;D	0.97232	-4.3;-4.3	5.07	5.07	0.68467	ABC transporter, transmembrane domain, type 1 (1);	0.000000	0.85682	D	0.000000	D	0.98664	0.9552	M	0.89478	3.035	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	D	0.99813	1.1042	10	0.87932	D	0	.	18.4343	0.90638	0.0:1.0:0.0:0.0	.	1313	Q09428	ABCC8_HUMAN	H	1313;1314	ENSP00000374467:R1313H;ENSP00000303960:R1314H	ENSP00000303960:R1314H	R	-	2	0	ABCC8	17375366	1.000000	0.71417	0.991000	0.47740	0.669000	0.39330	4.940000	0.63533	2.350000	0.79820	0.555000	0.69702	CGC		0.617	ABCC8-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000389093.1	NM_000352		18	40	0	0	0	1	0	18	40					T	17418790	C	T	17418790	3	4	435	1	0	0	0	0	1	0	0	0	58	768	27	1	839	1	ABCC8	11	17418790	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	66990	17418790	117587726	5045	25970											
ABCC8	6833	broad.mit.edu	37	chr11	17450217	17450217	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aactcgcttagcttttgcacGctgctcgggaagcacagaga	10	9	11	11	3	0	1	0	0	0	1	2	3	0	2	0	1	5	6	0	1	3	3	rs202207978		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:17450217G>A	ENST00000389817.3	-	13	1886	c.1818C>T	c.(1816-1818)agC>agT	p.S606S	ABCC8_ENST00000528202.1_5'Flank|ABCC8_ENST00000302539.4_Splice_Site_p.S606S			Q09428	ABCC8_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 8	606					carbohydrate metabolic process (GO:0005975)|energy reserve metabolic process (GO:0006112)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|ion channel binding (GO:0044325)|potassium ion transmembrane transporter activity (GO:0015079)|sulfonylurea receptor activity (GO:0008281)			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Chlorpropamide(DB00672)|Gliclazide(DB01120)|Glimepiride(DB00222)|Glipizide(DB01067)|Gliquidone(DB01251)|Glyburide(DB01016)|Glycodiazine(DB01382)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)|Tolbutamide(DB01124)	GCTTTTGCACGCTGCTCGGGA	0.637																																						ENST00000302539.4																			0				NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						c.e13-1		ATP-binding cassette, sub-family C (CFTR/MRP), member 8	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)	G		1,4399	2.1+/-5.4	0,1,2199	69	61	64		1818	-5.4	0.9	11		64	0,8586		0,0,4293	yes	coding-synonymous-near-splice	ABCC8	NM_000352.3		0,1,6492	AA,AG,GG		0.0,0.0227,0.0077		606/1582	17450217	1,12985	2200	4293	6493	SO:0001630	splice_region_variant	6833				carbohydrate metabolic process|energy reserve metabolic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity	g.chr11:17450217G>A	L78207	CCDS31437.1, CCDS73264.1	11p15.1	2014-09-17			ENSG00000006071	ENSG00000006071		"ATP binding cassette transporters / subfamily C"	59	protein-coding gene	gene with protein product	"sulfonylurea receptor (hyperinsulinemia)"	600509		SUR, HRINS		7920639, 7716548	Standard	NM_000352		Approved	HI, PHHI, SUR1, MRP8, ABC36, HHF1, TNDM2	uc001mnc.3	Q09428	OTTHUMG00000166316	ENST00000389817.3:c.1818-1C>T	11.37:g.17450217G>A						ABCC8_ENST00000389817.3_Splice_Site_p.S606_splice	p.S606_splice	NM_000352.3	NP_000343.2	Q09428	ABCC8_HUMAN		READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	13	1943	-			606					A6NMX8|E3UYX6|O75948|Q16583	Splice_Site	SNP	ENST00000389817.3	37	c.1817_splice	CCDS31437.1																																																																																				0.637	ABCC8-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000389093.1	NM_000352	Silent	24	12	0	0	0	1	0	24	12					A	17450217	G	A	17450217	5	1	435	1	0	0	0	0	0	0	1	0	58	1101	38	1	3035	1	ABCC8	11	17450217	Splice_Site	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	31427	17450217	117556299	5046	25971											
ABCC8	6833	broad.mit.edu	37	chr11	17491740	17491740	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acgccatcccggctggcatgTacaggtgcagatggtgggat	8	8	15	10	2	0	1	0	0	0	1	1	2	1	2	2	5	2	4	2	5	1	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:17491740T>C	ENST00000389817.3	-	3	388	c.320A>G	c.(319-321)tAc>tGc	p.Y107C	ABCC8_ENST00000302539.4_Missense_Mutation_p.Y107C			Q09428	ABCC8_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 8	107					carbohydrate metabolic process (GO:0005975)|energy reserve metabolic process (GO:0006112)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|ion channel binding (GO:0044325)|potassium ion transmembrane transporter activity (GO:0015079)|sulfonylurea receptor activity (GO:0008281)			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Chlorpropamide(DB00672)|Gliclazide(DB01120)|Glimepiride(DB00222)|Glipizide(DB01067)|Gliquidone(DB01251)|Glyburide(DB01016)|Glycodiazine(DB01382)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)|Tolbutamide(DB01124)	GGCTGGCATGTACAGGTGCAG	0.537																																						ENST00000302539.4																			0				NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						c.(319-321)tAc>tGc		ATP-binding cassette, sub-family C (CFTR/MRP), member 8	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)						101	80	87					11																	17491740		2200	4293	6493	SO:0001583	missense	6833				carbohydrate metabolic process|energy reserve metabolic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity	g.chr11:17491740T>C	L78207	CCDS31437.1, CCDS73264.1	11p15.1	2014-09-17			ENSG00000006071	ENSG00000006071		"ATP binding cassette transporters / subfamily C"	59	protein-coding gene	gene with protein product	"sulfonylurea receptor (hyperinsulinemia)"	600509		SUR, HRINS		7920639, 7716548	Standard	NM_000352		Approved	HI, PHHI, SUR1, MRP8, ABC36, HHF1, TNDM2	uc001mnc.3	Q09428	OTTHUMG00000166316	ENST00000389817.3:c.320A>G	11.37:g.17491740T>C	ENSP00000374467:p.Tyr107Cys					ABCC8_ENST00000389817.3_Missense_Mutation_p.Y107C	p.Y107C	NM_000352.3	NP_000343.2	Q09428	ABCC8_HUMAN		READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	3	445	-			107					A6NMX8|E3UYX6|O75948|Q16583	Missense_Mutation	SNP	ENST00000389817.3	37	c.320A>G	CCDS31437.1	.	.	.	.	.	.	.	.	.	.	T	19.12	3.766480	0.69878	.	.	ENSG00000006071	ENST00000389817;ENST00000302539;ENST00000379493	D;D	0.96830	-4.14;-4.14	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	D	0.97312	0.9121	M	0.66939	2.045	0.54753	D	0.999987	D;D	0.89917	1.0;1.0	D;D	0.70227	0.968;0.968	D	0.97424	1.0011	10	0.62326	D	0.03	.	11.2831	0.49206	0.1361:0.0:0.0:0.8639	.	107;107	B7Z4N0;Q09428	.;ABCC8_HUMAN	C	107;107;121	ENSP00000374467:Y107C;ENSP00000303960:Y107C	ENSP00000303960:Y107C	Y	-	2	0	ABCC8	17448316	1.000000	0.71417	1.000000	0.80357	0.896000	0.52359	2.687000	0.46976	2.223000	0.72356	0.482000	0.46254	TAC		0.537	ABCC8-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000389093.1	NM_000352		4	25	0	0	0	1	0	4	25					C	17491740	T	C	17491740	3	2	435	1	0	0	0	0	1	0	0	0	58	1638	57	4	4573	4	ABCC8	11	17491740	Missense_Mutation	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	41523	17491740	117514776	5047	25972											
USH1C	10083	broad.mit.edu	37	chr11	17523051	17523051	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttgatgcgtaggagccggAcatccttccccatgatctgc	7	11	10	13	2	2	2	0	2	2	0	4	4	4	4	4	2	3	1	4	2	1	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:17523051A>G	ENST00000318024.4	-	17	1466	c.1358T>C	c.(1357-1359)gTc>gCc	p.V453A	USH1C_ENST00000529563.1_5'UTR|USH1C_ENST00000005226.7_Missense_Mutation_p.V753A|USH1C_ENST00000527720.1_Missense_Mutation_p.V422A|USH1C_ENST00000527020.1_Missense_Mutation_p.V434A	NM_005709.3	NP_005700.2	Q9Y6N9	USH1C_HUMAN	Usher syndrome 1C (autosomal recessive, severe)	453	PDZ 3. {ECO:0000255|PROSITE- ProRule:PRU00143}.				auditory receptor cell differentiation (GO:0042491)|equilibrioception (GO:0050957)|G2/M transition of mitotic cell cycle (GO:0000086)|inner ear morphogenesis (GO:0042472)|parallel actin filament bundle assembly (GO:0030046)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	spectrin binding (GO:0030507)			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	48						TAGGAGCCGGACATCCTTCCC	0.602																																						ENST00000005226.7																			0				central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	48						c.(2257-2259)gTc>gCc		Usher syndrome 1C (autosomal recessive, severe)							75	76	76					11																	17523051		2200	4293	6493	SO:0001583	missense	10083				equilibrioception|G2/M transition of mitotic cell cycle|photoreceptor cell maintenance|sensory perception of sound	apical part of cell|cytoplasm|stereocilium	protein binding	g.chr11:17523051A>G	AB006955	CCDS7825.1, CCDS31438.1, CCDS73265.1	11p14.3	2013-06-19	2004-05-19		ENSG00000006611	ENSG00000006611			12597	protein-coding gene	gene with protein product	"harmonin"	605242	"deafness, autosomal recessive 18"	DFNB18		10973247, 12107438	Standard	NM_005709		Approved	PDZ73, harmonin, NY-CO-37, NY-CO-38, PDZ-73, AIE-75, PDZD7C	uc001mne.3	Q9Y6N9	OTTHUMG00000166323	ENST00000318024.4:c.1358T>C	11.37:g.17523051A>G	ENSP00000317018:p.Val453Ala					USH1C_ENST00000529563.1_5'UTR|USH1C_ENST00000527020.1_Missense_Mutation_p.V434A|USH1C_ENST00000527720.1_Missense_Mutation_p.V422A|USH1C_ENST00000318024.4_Missense_Mutation_p.V453A	p.V753A	NM_153676.3	NP_710142.1	Q9Y6N9	USH1C_HUMAN			22	2257	-			453					A8K423|Q7RTU8|Q96B29|Q9UM04|Q9UM17|Q9UPC3	Missense_Mutation	SNP	ENST00000318024.4	37	c.2258T>C	CCDS31438.1	.	.	.	.	.	.	.	.	.	.	A	20.8	4.045305	0.75846	.	.	ENSG00000006611	ENST00000318024;ENST00000527720;ENST00000527020;ENST00000005226	T;T;T;T	0.30714	1.52;1.52;1.52;1.52	5.63	5.63	0.86233	PDZ/DHR/GLGF (2);	0.148112	0.44902	D	0.000416	T	0.51601	0.1684	L	0.60455	1.87	0.35132	D	0.768008	D;P;B	0.59357	0.985;0.563;0.07	D;P;B	0.74023	0.982;0.758;0.373	T	0.63171	-0.6697	10	0.52906	T	0.07	.	14.8361	0.70183	1.0:0.0:0.0:0.0	.	434;453;753	Q9Y6N9-4;Q9Y6N9;Q7RTU8	.;USH1C_HUMAN;.	A	453;422;434;753	ENSP00000317018:V453A;ENSP00000432944:V422A;ENSP00000436934:V434A;ENSP00000005226:V753A	ENSP00000005226:V753A	V	-	2	0	USH1C	17479627	1.000000	0.71417	0.936000	0.37596	0.987000	0.75469	7.196000	0.77805	2.149000	0.67028	0.528000	0.53228	GTC		0.602	USH1C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000389146.1	NM_005709		15	15	0	0	0	1	0	15	15					G	17523051	A	G	17523051	3	3	435	1	0	0	0	0	1	0	0	0	17031	275	10	4	465	4	USH1C	11	17523051	Missense_Mutation	SNP	A	TCGA-XK-AAIW-01A-11D-A41K-08	31311	17523051	117483465	5048	25973											
USH1C	10083	broad.mit.edu	37	chr11	17531357	17531357	+	Intron	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gggccaggggagacacagaaGgcgggggaggcgggggccct	8	1	23	9	2	0	2	0	0	0	2	0	4	0	3	2	9	0	0	2	9	1	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:17531357G>T	ENST00000318024.4	-	15	1393				USH1C_ENST00000529563.1_Intron|USH1C_ENST00000005226.7_Missense_Mutation_p.P520H|USH1C_ENST00000527720.1_Intron|USH1C_ENST00000527020.1_Intron	NM_005709.3	NP_005700.2	Q9Y6N9	USH1C_HUMAN	Usher syndrome 1C (autosomal recessive, severe)						auditory receptor cell differentiation (GO:0042491)|equilibrioception (GO:0050957)|G2/M transition of mitotic cell cycle (GO:0000086)|inner ear morphogenesis (GO:0042472)|parallel actin filament bundle assembly (GO:0030046)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	spectrin binding (GO:0030507)			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	48						AGACACAGAAGGCGGGGGAGG	0.577																																						ENST00000005226.7																			0				central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	48						c.(1558-1560)cCt>cAt		Usher syndrome 1C (autosomal recessive, severe)							25	32	29					11																	17531357		2200	4292	6492	SO:0001627	intron_variant	10083				equilibrioception|G2/M transition of mitotic cell cycle|photoreceptor cell maintenance|sensory perception of sound	apical part of cell|cytoplasm|stereocilium	protein binding	g.chr11:17531357G>T	AB006955	CCDS7825.1, CCDS31438.1, CCDS73265.1	11p14.3	2013-06-19	2004-05-19		ENSG00000006611	ENSG00000006611			12597	protein-coding gene	gene with protein product	"harmonin"	605242	"deafness, autosomal recessive 18"	DFNB18		10973247, 12107438	Standard	NM_005709		Approved	PDZ73, harmonin, NY-CO-37, NY-CO-38, PDZ-73, AIE-75, PDZD7C	uc001mne.3	Q9Y6N9	OTTHUMG00000166323	ENST00000318024.4:c.1284+7590C>A	11.37:g.17531357G>T						USH1C_ENST00000529563.1_Intron|USH1C_ENST00000527020.1_Intron|USH1C_ENST00000527720.1_Intron|USH1C_ENST00000318024.4_Intron	p.P520H	NM_153676.3	NP_710142.1	Q9Y6N9	USH1C_HUMAN			18	1558	-			0			PDZ 3.		A8K423|Q7RTU8|Q96B29|Q9UM04|Q9UM17|Q9UPC3	Missense_Mutation	SNP	ENST00000318024.4	37	c.1559C>A	CCDS31438.1	.	.	.	.	.	.	.	.	.	.	G	16.08	3.021513	0.54576	.	.	ENSG00000006611	ENST00000005226	T	0.47177	0.85	4.98	4.98	0.66077	.	1.268720	0.05687	N	0.591474	T	0.63943	0.2554	.	.	.	0.36976	D	0.894047	D	0.63046	0.992	P	0.54499	0.754	T	0.57940	-0.7724	9	0.56958	D	0.05	.	15.1669	0.72837	0.0:0.0:1.0:0.0	.	520	Q7RTU8	.	H	520	ENSP00000005226:P520H	ENSP00000005226:P520H	P	-	2	0	USH1C	17487933	1.000000	0.71417	0.883000	0.34634	0.401000	0.30781	4.933000	0.63484	2.314000	0.78098	0.591000	0.81541	CCT		0.577	USH1C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000389146.1	NM_005709		18	31	1	0	2.98393e-07	1	3.1252e-07	18	31					T	17531357	G	T	17531357	1	4	435	0	1	0	0	0	0	0	0	0	17031	1000	35	5		5	USH1C	11	17531357	Intron	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	8306	17531357	117475159	5049	25974											
USH1C	10083	broad.mit.edu	37	chr11	17544427	17544427	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gccgctgcagctcacgctgcCgcgcctctgccagccgctcc	3	6	11	21	5	2	0	1	0	1	0	3	0	3	0	6	0	5	5	6	0	0	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:17544427C>T	ENST00000318024.4	-	12	1031	c.923G>A	c.(922-924)cGg>cAg	p.R308Q	USH1C_ENST00000005226.7_Missense_Mutation_p.R308Q|USH1C_ENST00000527720.1_Missense_Mutation_p.R277Q|USH1C_ENST00000527020.1_Missense_Mutation_p.R289Q	NM_005709.3	NP_005700.2	Q9Y6N9	USH1C_HUMAN	Usher syndrome 1C (autosomal recessive, severe)	308					auditory receptor cell differentiation (GO:0042491)|equilibrioception (GO:0050957)|G2/M transition of mitotic cell cycle (GO:0000086)|inner ear morphogenesis (GO:0042472)|parallel actin filament bundle assembly (GO:0030046)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	spectrin binding (GO:0030507)	p.R308Q(1)		central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	48						CTCACGCTGCCGCGCCTCTGC	0.657																																						ENST00000005226.7																			1	Substitution - Missense(1)	p.R308Q(1)	lung(1)	central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	48						c.(922-924)cGg>cAg		Usher syndrome 1C (autosomal recessive, severe)							11	13	12					11																	17544427		2050	4059	6109	SO:0001583	missense	10083				equilibrioception|G2/M transition of mitotic cell cycle|photoreceptor cell maintenance|sensory perception of sound	apical part of cell|cytoplasm|stereocilium	protein binding	g.chr11:17544427C>T	AB006955	CCDS7825.1, CCDS31438.1, CCDS73265.1	11p14.3	2013-06-19	2004-05-19		ENSG00000006611	ENSG00000006611			12597	protein-coding gene	gene with protein product	"harmonin"	605242	"deafness, autosomal recessive 18"	DFNB18		10973247, 12107438	Standard	NM_005709		Approved	PDZ73, harmonin, NY-CO-37, NY-CO-38, PDZ-73, AIE-75, PDZD7C	uc001mne.3	Q9Y6N9	OTTHUMG00000166323	ENST00000318024.4:c.923G>A	11.37:g.17544427C>T	ENSP00000317018:p.Arg308Gln					USH1C_ENST00000527020.1_Missense_Mutation_p.R289Q|USH1C_ENST00000527720.1_Missense_Mutation_p.R277Q|USH1C_ENST00000318024.4_Missense_Mutation_p.R308Q	p.R308Q	NM_153676.3	NP_710142.1	Q9Y6N9	USH1C_HUMAN			12	922	-			308					A8K423|Q7RTU8|Q96B29|Q9UM04|Q9UM17|Q9UPC3	Missense_Mutation	SNP	ENST00000318024.4	37	c.923G>A	CCDS31438.1	.	.	.	.	.	.	.	.	.	.	C	17.58	3.426011	0.62733	.	.	ENSG00000006611	ENST00000318024;ENST00000527720;ENST00000527020;ENST00000005226	T;T;T;T	0.38077	1.79;1.78;1.98;1.16	5.22	4.31	0.51392	PDZ/DHR/GLGF (1);	0.386039	0.27388	N	0.019592	T	0.23846	0.0577	N	0.24115	0.695	0.26782	N	0.969579	P;P;D	0.60160	0.89;0.824;0.987	B;B;B	0.42738	0.376;0.148;0.396	T	0.09015	-1.0694	10	0.51188	T	0.08	.	7.7362	0.28815	0.0:0.8115:0.0:0.1885	.	289;308;308	Q9Y6N9-4;Q9Y6N9;Q7RTU8	.;USH1C_HUMAN;.	Q	308;277;289;308	ENSP00000317018:R308Q;ENSP00000432944:R277Q;ENSP00000436934:R289Q;ENSP00000005226:R308Q	ENSP00000005226:R308Q	R	-	2	0	USH1C	17501003	0.997000	0.39634	0.948000	0.38648	0.278000	0.26855	2.665000	0.46791	1.209000	0.43321	0.455000	0.32223	CGG		0.657	USH1C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000389146.1	NM_005709		5	8	0	0	0	1	0	5	8					T	17544427	C	T	17544427	3	4	435	1	0	0	0	0	1	0	0	0	17031	652	23	2	1918	2	USH1C	11	17544427	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	13070	17544427	117462089	5050	25975											
KCNC1	3746	broad.mit.edu	37	chr11	17757921	17757921	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctctggacagcttcggcggCgctcctctggacaacagcgc	6	7	13	15	4	2	0	0	0	2	0	4	2	3	2	1	4	3	3	1	4	1	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:17757921C>T	ENST00000379472.3	+	1	402	c.372C>T	c.(370-372)ggC>ggT	p.G124G	KCNC1_ENST00000265969.6_Silent_p.G124G	NM_004976.4	NP_004967.1	P48547	KCNC1_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 1	124					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|voltage-gated potassium channel activity (GO:0005249)			breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(7)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	33					Dalfampridine(DB06637)	GCTTCGGCGGCGCTCCTCTGG	0.706																																						ENST00000379472.3																			0				breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(7)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	33						c.(370-372)ggC>ggT		potassium voltage-gated channel, Shaw-related subfamily, member 1							15	19	18					11																	17757921		2193	4288	6481	SO:0001819	synonymous_variant	3746					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr11:17757921C>T	M96747	CCDS7827.1, CCDS44547.1	11p15	2012-07-05			ENSG00000129159	ENSG00000129159		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6233	protein-coding gene	gene with protein product		176258				8449507, 16382104	Standard	NM_004976		Approved	Kv3.1	uc009yhc.1	P48547	OTTHUMG00000166359	ENST00000379472.3:c.372C>T	11.37:g.17757921C>T						KCNC1_ENST00000265969.6_Silent_p.G124G	p.G124G	NM_004976.4	NP_004967.1	P48547	KCNC1_HUMAN			1	402	+			124					K4DI87	Silent	SNP	ENST00000379472.3	37	c.372C>T	CCDS7827.1																																																																																				0.706	KCNC1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389389.1	NM_004976		11	8	0	0	0	1	0	11	8					T	17757921	C	T	17757921	2	4	435	1	0	0	0	0	0	0	0	1	8014	755	27	1		1	KCNC1	11	17757921	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	213494	17757921	117248595	5051	25976											
KCNC1	3746	broad.mit.edu	37	chr11	17757938	17757938	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggcgctcctctggacaacaGcgccgacgacgcggacgccg	7	3	14	17	9	1	0	0	0	1	0	2	4	2	2	3	3	2	1	3	3	1	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:17757938G>T	ENST00000379472.3	+	1	419	c.389G>T	c.(388-390)aGc>aTc	p.S130I	KCNC1_ENST00000265969.6_Missense_Mutation_p.S130I	NM_004976.4	NP_004967.1	P48547	KCNC1_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 1	130					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|voltage-gated potassium channel activity (GO:0005249)			breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(7)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	33					Dalfampridine(DB06637)	CTGGACAACAGCGCCGACGAC	0.711																																						ENST00000379472.3																			0				breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(7)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	33						c.(388-390)aGc>aTc		potassium voltage-gated channel, Shaw-related subfamily, member 1							13	16	15					11																	17757938		2187	4284	6471	SO:0001583	missense	3746					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr11:17757938G>T	M96747	CCDS7827.1, CCDS44547.1	11p15	2012-07-05			ENSG00000129159	ENSG00000129159		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6233	protein-coding gene	gene with protein product		176258				8449507, 16382104	Standard	NM_004976		Approved	Kv3.1	uc009yhc.1	P48547	OTTHUMG00000166359	ENST00000379472.3:c.389G>T	11.37:g.17757938G>T	ENSP00000368785:p.Ser130Ile					KCNC1_ENST00000265969.6_Missense_Mutation_p.S130I	p.S130I	NM_004976.4	NP_004967.1	P48547	KCNC1_HUMAN			1	419	+			130					K4DI87	Missense_Mutation	SNP	ENST00000379472.3	37	c.389G>T	CCDS7827.1	.	.	.	.	.	.	.	.	.	.	G	13.58	2.280287	0.40294	.	.	ENSG00000129159	ENST00000265969;ENST00000379472	D;D	0.97138	-4.26;-4.25	5.18	4.26	0.50523	.	5.062450	0.00744	N	0.001033	D	0.93923	0.8055	N	0.14661	0.345	0.38376	D	0.945004	B;B	0.16603	0.004;0.018	B;B	0.15484	0.004;0.013	T	0.76380	-0.2980	10	0.42905	T	0.14	.	11.7462	0.51821	0.0822:0.0:0.9178:0.0	.	130;130	Q3KNS8;P48547	.;KCNC1_HUMAN	I	130	ENSP00000265969:S130I;ENSP00000368785:S130I	ENSP00000265969:S130I	S	+	2	0	KCNC1	17714514	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	4.591000	0.61019	1.173000	0.42796	0.561000	0.74099	AGC		0.711	KCNC1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389389.1	NM_004976		6	15	1	0	0.0215528	1	0.0217053	6	15					T	17757938	G	T	17757938	3	4	435	1	0	0	0	0	1	0	0	0	8014	971	34	5	391	5	KCNC1	11	17757938	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	17	17757938	117248578	5052	25977											
MRGPRX4	117196	broad.mit.edu	37	chr11	18194972	18194972	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggctcctgggctaccgcatgCgcaggaacgctgtctccatc	6	8	12	15	3	1	0	0	0	1	0	4	1	2	1	3	3	3	5	3	3	2	1	rs201987699		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:18194972C>T	ENST00000314254.3	+	1	589	c.169C>T	c.(169-171)Cgc>Tgc	p.R57C	RP11-113D6.6_ENST00000527671.1_Intron	NM_054032.3	NP_473373.2	Q96LA9	MRGX4_HUMAN	MAS-related GPR, member X4	57						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32						CTACCGCATGCGCAGGAACGC	0.537																																						ENST00000314254.3																			0				central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32						c.(169-171)Cgc>Tgc		MAS-related GPR, member X4							126	110	116					11																	18194972		2199	4293	6492	SO:0001583	missense	117196					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr11:18194972C>T	AY042216	CCDS7831.1	11p15.1	2013-10-10			ENSG00000179817	ENSG00000179817		"GPCR / Class A : Orphans"	17617	protein-coding gene	gene with protein product		607230				11551509	Standard	NM_054032		Approved	MRGX4	uc001mnv.1	Q96LA9	OTTHUMG00000166442	ENST00000314254.3:c.169C>T	11.37:g.18194972C>T	ENSP00000314042:p.Arg57Cys					RP11-113D6.6_ENST00000527671.1_Intron	p.R57C	NM_054032.3	NP_473373.2	Q96LA9	MRGX4_HUMAN			1	589	+			57					Q3KNU3|Q3KNU4|Q502W0|Q8TDD6|Q8TDD7	Missense_Mutation	SNP	ENST00000314254.3	37	c.169C>T	CCDS7831.1	.	.	.	.	.	.	.	.	.	.	C	11.47	1.647028	0.29246	.	.	ENSG00000179817	ENST00000314254	T	0.10960	2.82	2.94	-5.3	0.02738	GPCR, rhodopsin-like superfamily (1);	0.675165	0.13537	N	0.380517	T	0.12220	0.0297	M	0.83852	2.665	0.09310	N	1	B	0.33022	0.394	B	0.30572	0.117	T	0.09443	-1.0674	10	0.51188	T	0.08	.	8.0354	0.30488	0.6777:0.1858:0.1365:0.0	.	57	Q96LA9	MRGX4_HUMAN	C	57	ENSP00000314042:R57C	ENSP00000314042:R57C	R	+	1	0	MRGPRX4	18151548	0.000000	0.05858	0.000000	0.03702	0.104000	0.19210	-1.750000	0.01822	-0.726000	0.04895	-0.444000	0.05651	CGC		0.537	MRGPRX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389788.1	NM_054032		24	27	0	0	0	1	0	24	27					T	18194972	C	T	18194972	3	4	435	1	0	0	0	0	1	0	0	0	9769	768	27	1	171	1	MRGPRX4	11	18194972	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	437034	18194972	116811544	5053	25978											
HPS5	11234	broad.mit.edu	37	chr11	18318477	18318477	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcttcatctgactgactgcCtcttctactactaatgatac	9	15	5	12	0	5	3	1	3	4	0	5	3	5	3	1	0	4	0	1	0	4	6			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:18318477C>A	ENST00000349215.3	-	12	1655	c.1378G>T	c.(1378-1380)Ggc>Tgc	p.G460C	HPS5_ENST00000438420.2_Missense_Mutation_p.G346C|HPS5_ENST00000531848.1_Missense_Mutation_p.G346C|HPS5_ENST00000396253.3_Missense_Mutation_p.G346C|HPS5_ENST00000352460.3_5'Flank	NM_181507.1	NP_852608.1	Q9UPZ3	HPS5_HUMAN	Hermansky-Pudlak syndrome 5	460					blood coagulation (GO:0007596)|organelle organization (GO:0006996)|pigmentation (GO:0043473)	BLOC-2 complex (GO:0031084)				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						GACTGACTGCCTCTTCTACTA	0.378									Hermansky-Pudlak syndrome																													ENST00000396253.3																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						c.(1036-1038)Ggc>Tgc		Hermansky-Pudlak syndrome 5							97	90	92					11																	18318477		2199	4293	6492	SO:0001583	missense	11234	Hermansky-Pudlak syndrome	Familial Cancer Database	HPS, HPS1-8		cytosol		g.chr11:18318477C>A	AB023234	CCDS7836.1, CCDS7837.1	11p14	2014-06-18			ENSG00000110756	ENSG00000110756			17022	protein-coding gene	gene with protein product		607521				10231032, 10094488	Standard	NM_181507		Approved		uc001mod.1	Q9UPZ3	OTTHUMG00000166612	ENST00000349215.3:c.1378G>T	11.37:g.18318477C>A	ENSP00000265967:p.Gly460Cys					HPS5_ENST00000438420.2_Missense_Mutation_p.G346C|HPS5_ENST00000531848.1_Missense_Mutation_p.G346C|HPS5_ENST00000349215.3_Missense_Mutation_p.G460C	p.G346C	NM_007216.3	NP_009147.3	Q9UPZ3	HPS5_HUMAN			11	1498	-			460					A8K6J8|A8K8S1|D3DQX9|D3DQY0|O95942|Q8N4U0	Missense_Mutation	SNP	ENST00000349215.3	37	c.1036G>T	CCDS7836.1	.	.	.	.	.	.	.	.	.	.	C	23.9	4.467714	0.84533	.	.	ENSG00000110756	ENST00000396253;ENST00000438420;ENST00000349215;ENST00000531848	T;T;T;T	0.65732	-0.17;-0.17;-0.14;1.1	5.71	5.71	0.89125	.	0.048324	0.85682	D	0.000000	T	0.79317	0.4425	M	0.68952	2.095	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.79509	-0.1774	10	0.62326	D	0.03	.	19.8493	0.96733	0.0:1.0:0.0:0.0	.	460	Q9UPZ3	HPS5_HUMAN	C	346;346;460;346	ENSP00000379552:G346C;ENSP00000399590:G346C;ENSP00000265967:G460C;ENSP00000431758:G346C	ENSP00000265967:G460C	G	-	1	0	HPS5	18275053	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.783000	0.68982	2.701000	0.92244	0.563000	0.77884	GGC		0.378	HPS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390808.1	NM_181507		23	46	1	0	2.89027e-11	1	3.10618e-11	23	46					A	18318477	C	A	18318477	3	1	435	1	0	0	0	0	1	0	0	0	7342	681	24	5	2059	5	HPS5	11	18318477	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	123505	18318477	116688039	5054	25979											
TSG101	7251	broad.mit.edu	37	chr11	18502173	18502173	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaactgtttacgggacagaaGacgtacatgctgggagggga	12	7	16	6	2	0	2	0	0	0	2	0	6	0	5	0	4	4	3	0	4	4	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:18502173G>T	ENST00000251968.3	-	10	1508	c.1093C>A	c.(1093-1095)Ctt>Att	p.L365I	TSG101_ENST00000536719.1_Intron|TSG101_ENST00000357193.3_Missense_Mutation_p.L260I	NM_006292.3	NP_006283.1	Q99816	TS101_HUMAN	tumor susceptibility 101	365	SB. {ECO:0000255|PROSITE- ProRule:PRU00644}.				cell cycle arrest (GO:0007050)|cell division (GO:0051301)|cellular protein modification process (GO:0006464)|endosomal transport (GO:0016197)|intracellular transport of virus (GO:0075733)|keratinocyte differentiation (GO:0030216)|membrane organization (GO:0061024)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription, DNA-templated (GO:0045892)|protein transport (GO:0015031)|regulation of cell growth (GO:0001558)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)|viral budding (GO:0046755)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral protein processing (GO:0019082)|virion assembly (GO:0019068)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|endosome membrane (GO:0010008)|ESCRT I complex (GO:0000813)|extracellular vesicular exosome (GO:0070062)|late endosome (GO:0005770)|multivesicular body (GO:0005771)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	calcium-dependent protein binding (GO:0048306)|DNA binding (GO:0003677)|protein homodimerization activity (GO:0042803)|transcription corepressor activity (GO:0003714)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)			kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	22						CGGGACAGAAGACGTACATGC	0.443																																					GBM(99;1348 1396 8611 26475 50572)	ENST00000251968.3																			0				kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	22						c.(1093-1095)Ctt>Att		tumor susceptibility 101							85	80	82					11																	18502173		2199	4293	6492	SO:0001583	missense	7251				cell division|cellular membrane organization|endosome transport|interspecies interaction between organisms|non-lytic virus budding|protein transport|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway	early endosome|late endosome membrane|multivesicular body|nucleolus|plasma membrane	calcium-dependent protein binding|DNA binding|transcription corepressor activity|ubiquitin binding|ubiquitin protein ligase binding	g.chr11:18502173G>T	U82130	CCDS7842.1	11p15	2013-08-22	2013-08-22		ENSG00000074319	ENSG00000074319			15971	protein-coding gene	gene with protein product		601387	"tumor susceptibility gene 10", "tumor susceptibility gene 101"	TSG10		9019400, 9241264	Standard	NM_006292		Approved	VPS23	uc001mor.3	Q99816	OTTHUMG00000167725	ENST00000251968.3:c.1093C>A	11.37:g.18502173G>T	ENSP00000251968:p.Leu365Ile					TSG101_ENST00000536719.1_Intron|TSG101_ENST00000357193.3_Missense_Mutation_p.L260I	p.L365I	NM_006292.3	NP_006283.1	Q99816	TS101_HUMAN			10	1508	-			365			SB.		Q9BUM5	Missense_Mutation	SNP	ENST00000251968.3	37	c.1093C>A	CCDS7842.1	.	.	.	.	.	.	.	.	.	.	G	18.85	3.712231	0.68730	.	.	ENSG00000074319	ENST00000251968;ENST00000357193	T;T	0.44482	0.94;0.92	5.78	3.89	0.44902	Steadiness box (2);	0.063718	0.64402	D	0.000004	T	0.36331	0.0963	N	0.17474	0.49	0.48762	D	0.999704	P	0.48089	0.905	P	0.48952	0.596	T	0.10405	-1.0631	10	0.37606	T	0.19	-4.3973	14.9151	0.70789	0.0:0.2885:0.7115:0.0	.	365	Q99816	TS101_HUMAN	I	365;260	ENSP00000251968:L365I;ENSP00000349721:L260I	ENSP00000251968:L365I	L	-	1	0	TSG101	18458749	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.645000	0.83430	0.763000	0.33175	0.655000	0.94253	CTT		0.443	TSG101-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395906.1	NM_006292		7	27	1	0	0.00198382	1	0.0020125	7	27					T	18502173	G	T	18502173	3	4	435	1	0	0	0	0	1	0	0	0	16613	942	33	5	83	5	TSG101	11	18502173	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	183696	18502173	116504343	5055	25980											
TSG101	7251	broad.mit.edu	37	chr11	18503234	18503234	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaggcttctcccaagtaaaaGatagtgtcttcaatagcgtt	13	12	8	8	1	3	1	1	0	2	1	4	1	3	1	1	1	1	3	1	1	7	6			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:18503234G>T	ENST00000251968.3	-	9	1441	c.1026C>A	c.(1024-1026)atC>atA	p.I342I	TSG101_ENST00000536719.1_Silent_p.I342I|TSG101_ENST00000357193.3_Silent_p.I237I	NM_006292.3	NP_006283.1	Q99816	TS101_HUMAN	tumor susceptibility 101	342	SB. {ECO:0000255|PROSITE- ProRule:PRU00644}.				cell cycle arrest (GO:0007050)|cell division (GO:0051301)|cellular protein modification process (GO:0006464)|endosomal transport (GO:0016197)|intracellular transport of virus (GO:0075733)|keratinocyte differentiation (GO:0030216)|membrane organization (GO:0061024)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription, DNA-templated (GO:0045892)|protein transport (GO:0015031)|regulation of cell growth (GO:0001558)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)|viral budding (GO:0046755)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral protein processing (GO:0019082)|virion assembly (GO:0019068)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|endosome membrane (GO:0010008)|ESCRT I complex (GO:0000813)|extracellular vesicular exosome (GO:0070062)|late endosome (GO:0005770)|multivesicular body (GO:0005771)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	calcium-dependent protein binding (GO:0048306)|DNA binding (GO:0003677)|protein homodimerization activity (GO:0042803)|transcription corepressor activity (GO:0003714)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)			kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	22						CCAAGTAAAAGATAGTGTCTT	0.393																																					GBM(99;1348 1396 8611 26475 50572)	ENST00000536719.1																			0				kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	22						c.(1024-1026)atC>atA		tumor susceptibility 101							137	128	131					11																	18503234		2199	4293	6492	SO:0001819	synonymous_variant	7251				cell division|cellular membrane organization|endosome transport|interspecies interaction between organisms|non-lytic virus budding|protein transport|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway	early endosome|late endosome membrane|multivesicular body|nucleolus|plasma membrane	calcium-dependent protein binding|DNA binding|transcription corepressor activity|ubiquitin binding|ubiquitin protein ligase binding	g.chr11:18503234G>T	U82130	CCDS7842.1	11p15	2013-08-22	2013-08-22		ENSG00000074319	ENSG00000074319			15971	protein-coding gene	gene with protein product		601387	"tumor susceptibility gene 10", "tumor susceptibility gene 101"	TSG10		9019400, 9241264	Standard	NM_006292		Approved	VPS23	uc001mor.3	Q99816	OTTHUMG00000167725	ENST00000251968.3:c.1026C>A	11.37:g.18503234G>T						TSG101_ENST00000251968.3_Silent_p.I342I|TSG101_ENST00000357193.3_Silent_p.I237I	p.I342I			Q99816	TS101_HUMAN			9	1160	-			342			SB.		Q9BUM5	Silent	SNP	ENST00000251968.3	37	c.1026C>A	CCDS7842.1																																																																																				0.393	TSG101-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395906.1	NM_006292		40	56	1	0	4.14481e-20	1	4.59174e-20	40	56					T	18503234	G	T	18503234	2	4	435	1	0	0	0	0	0	0	0	1	16613	932	33	5		5	TSG101	11	18503234	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	1061	18503234	116503282	5056	25981											
SPTY2D1	144108	broad.mit.edu	37	chr11	18636790	18636790	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatggctaggatgggacagaGattttttggctttgtgctca	9	14	13	5	0	1	1	1	0	0	1	1	4	1	3	0	4	1	3	0	4	2	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:18636790G>T	ENST00000336349.5	-	3	1266	c.1031C>A	c.(1030-1032)tCt>tAt	p.S344Y	SPTY2D1_ENST00000543776.1_5'Flank	NM_194285.2	NP_919261.2	Q68D10	SPT2_HUMAN	SPT2, Suppressor of Ty, domain containing 1 (S. cerevisiae)	344	Ser-rich.									breast(4)|cervix(3)|endometrium(2)|kidney(3)|large_intestine(7)|lung(9)|skin(1)|stomach(1)	30						ATGGGACAGAGATTTTTTGGC	0.537																																						ENST00000336349.5																			0				breast(4)|cervix(3)|endometrium(2)|kidney(3)|large_intestine(7)|lung(9)|skin(1)|stomach(1)	30						c.(1030-1032)tCt>tAt		SPT2, Suppressor of Ty, domain containing 1 (S. cerevisiae)							109	121	117					11																	18636790		2199	4293	6492	SO:0001583	missense	144108							g.chr11:18636790G>T	BX647798	CCDS31441.1	11p15.1	2005-10-28			ENSG00000179119	ENSG00000179119			26818	protein-coding gene	gene with protein product							Standard	NM_194285		Approved	FLJ39441, DKFZp686I068	uc001moy.3	Q68D10	OTTHUMG00000167733	ENST00000336349.5:c.1031C>A	11.37:g.18636790G>T	ENSP00000337991:p.Ser344Tyr						p.S344Y	NM_194285.2	NP_919261.2	Q68D10	SPT2_HUMAN			3	1266	-			344			Ser-rich.		Q6AWA5|Q6MZI5|Q7Z390|Q7Z470|Q86VG8|Q8N3E7|Q8N417|Q8N8I3	Missense_Mutation	SNP	ENST00000336349.5	37	c.1031C>A	CCDS31441.1	.	.	.	.	.	.	.	.	.	.	G	10.88	1.476447	0.26511	.	.	ENSG00000179119	ENST00000336349	T	0.25749	1.78	5.84	3.98	0.46160	.	0.678176	0.15875	N	0.240321	T	0.19406	0.0466	L	0.27053	0.805	0.09310	N	1	B	0.31054	0.306	B	0.31191	0.125	T	0.14172	-1.0482	10	0.59425	D	0.04	0.4083	11.3069	0.49340	0.1258:0.0:0.8742:0.0	.	344	Q68D10	SPT2_HUMAN	Y	344	ENSP00000337991:S344Y	ENSP00000337991:S344Y	S	-	2	0	SPTY2D1	18593366	0.981000	0.34729	0.976000	0.42696	0.792000	0.44763	2.095000	0.41729	0.819000	0.34492	0.563000	0.77884	TCT		0.537	SPTY2D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395941.1	NM_194285		56	86	1	0	9.55421e-19	1	1.05525e-18	56	86					T	18636790	G	T	18636790	3	4	435	1	0	0	0	0	1	0	0	0	15125	942	33	5	1042	5	SPTY2D1	11	18636790	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	133556	18636790	116369726	5057	25982											
SPTY2D1	144108	broad.mit.edu	37	chr11	18637333	18637333	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tgaagttcatgggtggtgggGcacttttaagggggaccttt	7	13	16	5	0	1	1	1	1	0	0	1	2	1	2	1	6	0	2	1	6	2	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:18637333G>A	ENST00000336349.5	-	3	723	c.488C>T	c.(487-489)gCc>gTc	p.A163V	SPTY2D1_ENST00000543776.1_5'UTR	NM_194285.2	NP_919261.2	Q68D10	SPT2_HUMAN	SPT2, Suppressor of Ty, domain containing 1 (S. cerevisiae)	163										breast(4)|cervix(3)|endometrium(2)|kidney(3)|large_intestine(7)|lung(9)|skin(1)|stomach(1)	30						GGGTGGTGGGGCACTTTTAAG	0.468																																						ENST00000336349.5																			0				breast(4)|cervix(3)|endometrium(2)|kidney(3)|large_intestine(7)|lung(9)|skin(1)|stomach(1)	30						c.(487-489)gCc>gTc		SPT2, Suppressor of Ty, domain containing 1 (S. cerevisiae)							102	103	103					11																	18637333		2199	4293	6492	SO:0001583	missense	144108							g.chr11:18637333G>A	BX647798	CCDS31441.1	11p15.1	2005-10-28			ENSG00000179119	ENSG00000179119			26818	protein-coding gene	gene with protein product							Standard	NM_194285		Approved	FLJ39441, DKFZp686I068	uc001moy.3	Q68D10	OTTHUMG00000167733	ENST00000336349.5:c.488C>T	11.37:g.18637333G>A	ENSP00000337991:p.Ala163Val					SPTY2D1_ENST00000543776.1_5'UTR	p.A163V	NM_194285.2	NP_919261.2	Q68D10	SPT2_HUMAN			3	723	-			163					Q6AWA5|Q6MZI5|Q7Z390|Q7Z470|Q86VG8|Q8N3E7|Q8N417|Q8N8I3	Missense_Mutation	SNP	ENST00000336349.5	37	c.488C>T	CCDS31441.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.058319	0.76074	.	.	ENSG00000179119	ENST00000336349;ENST00000333429	T	0.26957	1.7	5.63	5.63	0.86233	.	0.059077	0.64402	D	0.000003	T	0.46619	0.1402	L	0.60455	1.87	0.50467	D	0.99987	D	0.89917	1.0	D	0.69654	0.965	T	0.33059	-0.9883	10	0.56958	D	0.05	-9.4326	15.1911	0.73044	0.0:0.1405:0.8595:0.0	.	163	Q68D10	SPT2_HUMAN	V	163	ENSP00000337991:A163V	ENSP00000331447:A163V	A	-	2	0	SPTY2D1	18593909	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.737000	0.84957	2.648000	0.89879	0.563000	0.77884	GCC		0.468	SPTY2D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395941.1	NM_194285		4	74	0	0	0	1	0	4	74					A	18637333	G	A	18637333	3	1	435	1	0	0	0	0	1	0	0	0	15125	1203	42	3	1585	3	SPTY2D1	11	18637333	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	543	18637333	116369183	5058	25983											
SPTY2D1	144108	broad.mit.edu	37	chr11	18637464	18637464	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tccatttcatactctcggtcGgttccttggctggtatggct	4	16	10	11	2	2	0	1	0	1	0	6	0	4	0	2	5	1	4	2	5	2	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:18637464G>A	ENST00000336349.5	-	3	592	c.357C>T	c.(355-357)acC>acT	p.T119T	SPTY2D1_ENST00000543776.1_5'UTR	NM_194285.2	NP_919261.2	Q68D10	SPT2_HUMAN	SPT2, Suppressor of Ty, domain containing 1 (S. cerevisiae)	119										breast(4)|cervix(3)|endometrium(2)|kidney(3)|large_intestine(7)|lung(9)|skin(1)|stomach(1)	30						ACTCTCGGTCGGTTCCTTGGC	0.453																																						ENST00000336349.5																			0				breast(4)|cervix(3)|endometrium(2)|kidney(3)|large_intestine(7)|lung(9)|skin(1)|stomach(1)	30						c.(355-357)acC>acT		SPT2, Suppressor of Ty, domain containing 1 (S. cerevisiae)							206	195	199					11																	18637464		2199	4293	6492	SO:0001819	synonymous_variant	144108							g.chr11:18637464G>A	BX647798	CCDS31441.1	11p15.1	2005-10-28			ENSG00000179119	ENSG00000179119			26818	protein-coding gene	gene with protein product							Standard	NM_194285		Approved	FLJ39441, DKFZp686I068	uc001moy.3	Q68D10	OTTHUMG00000167733	ENST00000336349.5:c.357C>T	11.37:g.18637464G>A						SPTY2D1_ENST00000543776.1_5'UTR	p.T119T	NM_194285.2	NP_919261.2	Q68D10	SPT2_HUMAN			3	592	-			119					Q6AWA5|Q6MZI5|Q7Z390|Q7Z470|Q86VG8|Q8N3E7|Q8N417|Q8N8I3	Silent	SNP	ENST00000336349.5	37	c.357C>T	CCDS31441.1																																																																																				0.453	SPTY2D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395941.1	NM_194285		36	95	0	0	0	1	0	36	95					A	18637464	G	A	18637464	2	1	435	1	0	0	0	0	0	0	0	1	15125	1103	39	2		2	SPTY2D1	11	18637464	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	131	18637464	116369052	5059	25984											
TMEM86A	144110	broad.mit.edu	37	chr11	18722575	18722575	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tctagcccatcgtgggtcagCaccctcatcaagtgcctgcc	7	9	9	16	1	4	0	3	0	1	0	5	0	4	0	4	1	4	1	4	1	2	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:18722575C>T	ENST00000280734.2	+	2	213	c.117C>T	c.(115-117)agC>agT	p.S39S	TMEM86A_ENST00000527002.1_3'UTR	NM_153347.1	NP_699178.1	Q8N2M4	TM86A_HUMAN	transmembrane protein 86A	39						integral component of membrane (GO:0016021)				endometrium(2)|kidney(1)|large_intestine(4)|lung(1)|ovary(1)|skin(2)	11						CGTGGGTCAGCACCCTCATCA	0.592																																						ENST00000280734.2																			0				endometrium(2)|kidney(1)|large_intestine(4)|lung(1)|ovary(1)|skin(2)	11						c.(115-117)agC>agT		transmembrane protein 86A							228	207	214					11																	18722575		2199	4293	6492	SO:0001819	synonymous_variant	144110					integral to membrane		g.chr11:18722575C>T	BC035692	CCDS7844.1	11p15.1	2005-10-28				ENSG00000151117			26890	protein-coding gene	gene with protein product							Standard	NM_153347		Approved	FLJ90119	uc001moz.1	Q8N2M4		ENST00000280734.2:c.117C>T	11.37:g.18722575C>T						TMEM86A_ENST00000527002.1_3'UTR	p.S39S	NM_153347.1	NP_699178.1	Q8N2M4	TM86A_HUMAN			2	213	+			39					Q96AJ0	Silent	SNP	ENST00000280734.2	37	c.117C>T	CCDS7844.1																																																																																				0.592	TMEM86A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387812.1	NM_153347		62	80	0	0	0	1	0	62	80					T	18722575	C	T	18722575	2	4	435	1	0	0	0	0	0	0	0	1	16205	709	25	3		3	TMEM86A	11	18722575	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	85111	18722575	116283941	5060	25985											
IGSF22	283284	broad.mit.edu	37	chr11	18739554	18739554	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccagcatcgttcatgttcacGttgctaataaccagcatgta	11	12	7	11	2	2	0	2	0	0	0	3	0	2	0	2	0	4	7	2	0	3	6			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:18739554G>A	ENST00000513874.1	-	9	1036	c.897C>T	c.(895-897)aaC>aaT	p.N299N	RP11-1081L13.4_ENST00000527285.1_RNA	NM_173588.3	NP_775859	Q8N9C0	IGS22_HUMAN	immunoglobulin superfamily, member 22	299	Ig-like 2.									NS(2)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(20)|ovary(4)|prostate(4)|skin(3)	56						TCATGTTCACGTTGCTAATAA	0.552																																						ENST00000513874.1																			0				NS(2)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(20)|ovary(4)|prostate(4)|skin(3)	56						c.(895-897)aaC>aaT		immunoglobulin superfamily, member 22							172	169	170					11																	18739554		2137	4250	6387	SO:0001819	synonymous_variant	283284							g.chr11:18739554G>A	AK095113	CCDS41625.1, CCDS41625.2	11p15.1	2014-06-06			ENSG00000179057	ENSG00000179057		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	26750	protein-coding gene	gene with protein product							Standard	NM_173588		Approved	FLJ37794	uc009yht.2	Q8N9C0	OTTHUMG00000160502	ENST00000513874.1:c.897C>T	11.37:g.18739554G>A						RP11-1081L13.4_ENST00000527285.1_RNA	p.N299N	NM_173588.3	NP_775859.3	Q8N9C0	IGS22_HUMAN			9	1036	-			299			Ig-like 2.		A6NNA0|D6RGV7	Silent	SNP	ENST00000513874.1	37	c.897C>T	CCDS41625.2																																																																																				0.552	IGSF22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360850.2	NM_173588		31	36	0	0	0	1	0	31	36					A	18739554	G	A	18739554	2	1	435	1	0	0	0	0	0	0	0	1	7600	1136	40	1		1	IGSF22	11	18739554	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	16979	18739554	116266962	5061	25986											
IGSF22	283284	broad.mit.edu	37	chr11	18743465	18743465	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagcaacacaccctcgggcGcggtgaccggttgaggcttc	7	6	14	14	4	0	2	0	2	0	0	2	2	0	2	2	4	2	4	2	4	1	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:18743465G>A	ENST00000513874.1	-	3	372	c.233C>T	c.(232-234)gCg>gTg	p.A78V	RP11-1081L13.4_ENST00000527285.1_RNA	NM_173588.3	NP_775859	Q8N9C0	IGS22_HUMAN	immunoglobulin superfamily, member 22	78	Ig-like 1.									NS(2)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(20)|ovary(4)|prostate(4)|skin(3)	56						ACCCTCGGGCGCGGTGACCGG	0.617											OREG0020822	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000513874.1																			0				NS(2)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(20)|ovary(4)|prostate(4)|skin(3)	56						c.(232-234)gCg>gTg		immunoglobulin superfamily, member 22							53	61	58					11																	18743465		2029	4171	6200	SO:0001583	missense	283284							g.chr11:18743465G>A	AK095113	CCDS41625.1, CCDS41625.2	11p15.1	2014-06-06			ENSG00000179057	ENSG00000179057		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	26750	protein-coding gene	gene with protein product							Standard	NM_173588		Approved	FLJ37794	uc009yht.2	Q8N9C0	OTTHUMG00000160502	ENST00000513874.1:c.233C>T	11.37:g.18743465G>A	ENSP00000421191:p.Ala78Val		OREG0020822	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	90	RP11-1081L13.4_ENST00000527285.1_RNA	p.A78V	NM_173588.3	NP_775859.3	Q8N9C0	IGS22_HUMAN			3	372	-			78			Ig-like 1.		A6NNA0|D6RGV7	Missense_Mutation	SNP	ENST00000513874.1	37	c.233C>T	CCDS41625.2	.	.	.	.	.	.	.	.	.	.	G	8.171	0.791628	0.16258	.	.	ENSG00000179057	ENST00000513874	T	0.62788	-0.0	5.24	4.33	0.51752	.	1.008340	0.08003	U	0.989048	T	0.38214	0.1032	N	0.11341	0.13	0.09310	N	1	B	0.22800	0.075	B	0.17098	0.017	T	0.25916	-1.0118	10	0.02654	T	1	.	8.0719	0.30693	0.0821:0.0:0.7614:0.1565	.	78	D6RGV7	.	V	78	ENSP00000421191:A78V	ENSP00000322422:A78V	A	-	2	0	IGSF22	18700041	0.022000	0.18835	0.002000	0.10522	0.599000	0.36880	2.058000	0.41374	1.217000	0.43442	0.655000	0.94253	GCG		0.617	IGSF22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360850.2	NM_173588		27	32	0	0	0	1	0	27	32					A	18743465	G	A	18743465	3	1	435	1	0	0	0	0	1	0	0	0	7600	1087	38	1	3831	1	IGSF22	11	18743465	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	3911	18743465	116263051	5062	25987											
MRGPRX2	117194	broad.mit.edu	37	chr11	19077910	19077910	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttggtcatttccattcactgTtgtactttctgttccccagg	5	18	7	11	0	3	0	2	0	1	0	5	0	5	0	3	2	1	3	3	2	1	7			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:19077910T>C	ENST00000329773.2	-	2	127	c.40A>G	c.(40-42)Aca>Gca	p.T14A		NM_054030.2	NP_473371.1	Q96LB1	MRGX2_HUMAN	MAS-related GPR, member X2	14					positive regulation of cytokinesis (GO:0032467)|sensory perception of pain (GO:0019233)|sleep (GO:0030431)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|neuropeptide binding (GO:0042923)			NS(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	15						CCATTCACTGTTGTACTTTCT	0.532																																					GBM(198;1966 2199 4849 37227 49954)	ENST00000329773.2																			0				NS(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	15						c.(40-42)Aca>Gca		MAS-related GPR, member X2							189	205	200					11																	19077910		2199	4293	6492	SO:0001583	missense	117194				sensory perception of pain|sleep	plasma membrane	G-protein coupled receptor activity|neuropeptide binding	g.chr11:19077910T>C		CCDS7847.1	11p15.1	2013-10-10			ENSG00000183695	ENSG00000183695		"GPCR / Class A : Orphans"	17983	protein-coding gene	gene with protein product		607228				11551509	Standard	NM_054030		Approved	MRGX2	uc001mph.3	Q96LB1	OTTHUMG00000166098	ENST00000329773.2:c.40A>G	11.37:g.19077910T>C	ENSP00000333800:p.Thr14Ala						p.T14A	NM_054030.2	NP_473371.1	Q96LB1	MRGX2_HUMAN			2	127	-			14					B5B0C7|Q4QXW4|Q4QXW7|Q4QXX0|Q4QXX2|Q4QXX3|Q4QXX4|Q4QXX6|Q4QXX7	Missense_Mutation	SNP	ENST00000329773.2	37	c.40A>G	CCDS7847.1	.	.	.	.	.	.	.	.	.	.	.	5.213	0.224762	0.09916	.	.	ENSG00000183695	ENST00000329773	T	0.05649	3.41	4.82	-4.01	0.04045	.	2.203020	0.01709	N	0.027637	T	0.03520	0.0101	L	0.27053	0.805	0.09310	N	1	B	0.21606	0.058	B	0.18871	0.023	T	0.31806	-0.9930	10	0.06099	T	0.92	.	1.8074	0.03084	0.2137:0.3347:0.2982:0.1534	.	14	Q96LB1	MRGX2_HUMAN	A	14	ENSP00000333800:T14A	ENSP00000333800:T14A	T	-	1	0	MRGPRX2	19034486	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-4.480000	0.00227	-0.615000	0.05679	-0.313000	0.08912	ACA		0.532	MRGPRX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387819.1	NM_054030		64	112	0	0	0	1	0	64	112					C	19077910	T	C	19077910	3	2	435	1	0	0	0	0	1	0	0	0	9767	1725	60	4	956	4	MRGPRX2	11	19077910	Missense_Mutation	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	334445	19077910	115928606	5063	25988											
CSRP3	8048	broad.mit.edu	37	chr11	19213898	19213898	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actcactgcagtggaaacacGtcttgtggaaactccttcca	11	10	8	12	1	2	0	1	0	1	0	4	2	4	2	2	2	3	1	2	2	2	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:19213898G>A	ENST00000533783.1	-	3	338	c.98C>T	c.(97-99)aCg>aTg	p.T33M	CSRP3_ENST00000265968.3_Missense_Mutation_p.T33M	NM_003476.4	NP_003467.1	P50461	CSRP3_HUMAN	cysteine and glycine-rich protein 3 (cardiac LIM protein)	33	LIM zinc-binding 1. {ECO:0000255|PROSITE- ProRule:PRU00125}.				cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue development (GO:0048738)|cardiac myofibril assembly (GO:0055003)|cellular calcium ion homeostasis (GO:0006874)|detection of muscle stretch (GO:0035995)|protein localization to organelle (GO:0033365)|regulation of the force of heart contraction (GO:0002026)|skeletal muscle tissue development (GO:0007519)	cytoskeleton (GO:0005856)|nucleus (GO:0005634)|Z disc (GO:0030018)	actinin binding (GO:0042805)|structural constituent of muscle (GO:0008307)|telethonin binding (GO:0031433)|zinc ion binding (GO:0008270)			kidney(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(2)	10						GTGGAAACACGTCTTGTGGAA	0.512																																						ENST00000533783.1																			0				kidney(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(2)	10						c.(97-99)aCg>aTg		cysteine and glycine-rich protein 3 (cardiac LIM protein)							138	107	117					11																	19213898		2199	4293	6492	SO:0001583	missense	8048				cell differentiation|skeletal muscle tissue development	cytoskeleton|nucleus	protein binding|zinc ion binding	g.chr11:19213898G>A	U20324	CCDS7848.1	11p15.1	2014-09-17				ENSG00000129170			2472	protein-coding gene	gene with protein product		600824				7490106	Standard	NM_003476		Approved	CLP, MLP, CMD1M	uc001mpk.3	P50461		ENST00000533783.1:c.98C>T	11.37:g.19213898G>A	ENSP00000431813:p.Thr33Met					CSRP3_ENST00000265968.3_Missense_Mutation_p.T33M	p.T33M	NM_003476.4	NP_003467.1	P50461	CSRP3_HUMAN			3	338	-			33			LIM zinc-binding 1.		Q9P131	Missense_Mutation	SNP	ENST00000533783.1	37	c.98C>T	CCDS7848.1	.	.	.	.	.	.	.	.	.	.	G	13.86	2.364387	0.41902	.	.	ENSG00000129170	ENST00000265968;ENST00000533783	D;D	0.91407	-2.84;-2.84	6.16	5.23	0.72850	Zinc finger, LIM-type (5);	0.086971	0.85682	D	0.000000	D	0.86997	0.6068	L	0.43152	1.355	0.80722	D	1	B	0.20164	0.042	B	0.17098	0.017	T	0.82462	-0.0445	10	0.19590	T	0.45	-8.1369	17.0252	0.86443	0.0:0.1274:0.8726:0.0	.	33	P50461	CSRP3_HUMAN	M	33	ENSP00000265968:T33M;ENSP00000431813:T33M	ENSP00000265968:T33M	T	-	2	0	CSRP3	19170474	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.852000	0.86927	1.561000	0.49584	0.650000	0.86243	ACG		0.512	CSRP3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394484.1	NM_003476		16	38	0	0	0	1	0	16	38					A	19213898	G	A	19213898	3	1	435	1	0	0	0	0	1	0	0	0	3969	1145	40	1	506	1	CSRP3	11	19213898	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	135988	19213898	115792618	5064	25989											
E2F8	79733	broad.mit.edu	37	chr11	19251025	19251025	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gagacattttcaagtcctttTaggtcctctttaaatttctt	9	19	5	8	0	3	1	1	0	2	1	5	2	5	1	2	1	0	0	2	1	4	8			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:19251025T>C	ENST00000527884.1	-	10	2101	c.1869A>G	c.(1867-1869)ctA>ctG	p.L623L	RP11-428C19.4_ENST00000527978.1_RNA|E2F8_ENST00000250024.4_Silent_p.L623L	NM_001256371.1|NM_001256372.1	NP_001243300.1|NP_001243301.1	A0AVK6	E2F8_HUMAN	E2F transcription factor 8	623					cell cycle comprising mitosis without cytokinesis (GO:0033301)|chorionic trophoblast cell differentiation (GO:0060718)|hepatocyte differentiation (GO:0070365)|negative regulation of cytokinesis (GO:0032466)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|placenta development (GO:0001890)|positive regulation of DNA endoreduplication (GO:0032877)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|sprouting angiogenesis (GO:0002040)|trophoblast giant cell differentiation (GO:0060707)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	core promoter binding (GO:0001047)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						CAAGTCCTTTTAGGTCCTCTT	0.463																																						ENST00000527884.1																			0				breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						c.(1867-1869)ctA>ctG		E2F transcription factor 8							124	129	127					11																	19251025		2199	4293	6492	SO:0001819	synonymous_variant	79733				cell cycle	transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr11:19251025T>C		CCDS7849.1	11p15	2008-02-05			ENSG00000129173	ENSG00000129173			24727	protein-coding gene	gene with protein product		612047				15722552	Standard	NM_024680		Approved	FLJ23311	uc001mpo.2	A0AVK6	OTTHUMG00000166102	ENST00000527884.1:c.1869A>G	11.37:g.19251025T>C						RP11-428C19.4_ENST00000527978.1_RNA|E2F8_ENST00000250024.4_Silent_p.L623L	p.L623L	NM_001256371.1|NM_001256372.1	NP_001243300.1|NP_001243301.1	A0AVK6	E2F8_HUMAN			10	2101	-			623					A8K9H3|Q2VPJ3|Q3C1U6|Q5BKY4|Q8N340|Q9H5M0	Silent	SNP	ENST00000527884.1	37	c.1869A>G	CCDS7849.1																																																																																				0.463	E2F8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387830.1	NM_024680		39	59	0	0	0	1	0	39	59					C	19251025	T	C	19251025	2	2	435	1	0	0	0	0	0	0	0	1	4873	1741	61	4		4	E2F8	11	19251025	Silent	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	37127	19251025	115755491	5065	25990											
NAV2	89797	broad.mit.edu	37	chr11	19901631	19901631	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtgccagcctcaccagccagCgccacatcagcagtcaaaag	12	4	9	16	1	3	0	3	0	0	0	3	0	3	0	5	0	5	1	5	0	2	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:19901631C>T	ENST00000396087.3	+	5	827	c.728C>T	c.(727-729)gCg>gTg	p.A243V	NAV2_ENST00000396085.1_Missense_Mutation_p.A243V|NAV2_ENST00000527559.2_Missense_Mutation_p.A172V|NAV2_ENST00000534229.1_3'UTR|NAV2_ENST00000540292.1_Missense_Mutation_p.A174V|NAV2_ENST00000360655.4_Missense_Mutation_p.A179V|NAV2_ENST00000349880.4_Missense_Mutation_p.A243V	NM_001244963.1	NP_001231892.1	Q8IVL1	NAV2_HUMAN	neuron navigator 2	243	Gln-rich.				glossopharyngeal nerve development (GO:0021563)|locomotory behavior (GO:0007626)|optic nerve development (GO:0021554)|regulation of systemic arterial blood pressure by baroreceptor feedback (GO:0003025)|sensory perception of smell (GO:0007608)|sensory perception of sound (GO:0007605)|vagus nerve development (GO:0021564)	interstitial matrix (GO:0005614)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|heparin binding (GO:0008201)			NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						CACCAGCCAGCGCCACATCAG	0.632																																						ENST00000396085.1																			0				NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						c.(727-729)gCg>gTg		neuron navigator 2							34	32	33					11																	19901631		2198	4293	6491	SO:0001583	missense	89797					nucleus	ATP binding|helicase activity	g.chr11:19901631C>T	AB037840	CCDS7850.1, CCDS7851.2, CCDS44552.1, CCDS53612.1, CCDS58126.1	11p15.1	2008-07-18			ENSG00000166833	ENSG00000166833	3.6.1.1		15997	protein-coding gene	gene with protein product	"pore membrane and/or filament interacting like protein 2", "retinoic acid inducible gene in neuroblastoma 1", "helicase, APC down-regulated 1"	607026				12079279, 12062803	Standard	NM_145117		Approved	FLJ10633, FLJ11030, HELAD1, KIAA1419, POMFIL2, RAINB1, FLJ23707	uc010rdm.2	Q8IVL1	OTTHUMG00000151837	ENST00000396087.3:c.728C>T	11.37:g.19901631C>T	ENSP00000379396:p.Ala243Val					NAV2_ENST00000534229.1_3'UTR|NAV2_ENST00000540292.1_Missense_Mutation_p.A174V|NAV2_ENST00000349880.4_Missense_Mutation_p.A243V|NAV2_ENST00000396087.3_Missense_Mutation_p.A243V|NAV2_ENST00000360655.4_Missense_Mutation_p.A179V|NAV2_ENST00000527559.2_Missense_Mutation_p.A172V	p.A243V	NM_182964.5	NP_892009.3	Q8IVL1	NAV2_HUMAN			5	1089	+			243			Gln-rich.		A6NEC1|Q8IVK3|Q8IVK4|Q8IVK5|Q8IVK6|Q8IVK7|Q8IVK8|Q8NHC9|Q8NHD0|Q8TDE9|Q8TDF0|Q8TEB3|Q96B30|Q9NUZ6|Q9NVM7|Q9P2C8	Missense_Mutation	SNP	ENST00000396087.3	37	c.728C>T	CCDS58126.1	.	.	.	.	.	.	.	.	.	.	C	15.91	2.971417	0.53614	.	.	ENSG00000166833	ENST00000360655;ENST00000396085;ENST00000349880;ENST00000396087;ENST00000527559;ENST00000540292	T;T;T;T;T;T	0.29142	1.62;1.72;1.72;1.68;1.58;1.58	5.73	4.81	0.61882	.	0.230271	0.30437	N	0.009621	T	0.18215	0.0437	N	0.12182	0.205	0.80722	D	1	B;B	0.10296	0.003;0.002	B;B	0.09377	0.001;0.004	T	0.04840	-1.0923	9	.	.	.	.	14.8486	0.70277	0.0:0.9293:0.0:0.0707	.	243;179	Q8IVL1-3;Q8IVL1-4	.;.	V	179;243;243;243;172;174	ENSP00000353871:A179V;ENSP00000379394:A243V;ENSP00000309577:A243V;ENSP00000379396:A243V;ENSP00000435395:A172V;ENSP00000443489:A174V	.	A	+	2	0	NAV2	19858207	0.804000	0.28969	0.989000	0.46669	0.906000	0.53458	1.543000	0.36147	1.398000	0.46701	0.561000	0.74099	GCG		0.632	NAV2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324112.1	NM_145117		6	7	0	0	0	1	0	6	7					T	19901631	C	T	19901631	3	4	435	1	0	0	0	0	1	0	0	0	10184	768	27	1	825	1	NAV2	11	19901631	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	650606	19901631	115104885	5066	25991											
SLC6A5	9152	broad.mit.edu	37	chr11	20648287	20648287	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cggccacgttcccgtatgtcGtactcgtgatcctcctcatc	5	12	8	16	5	1	1	1	1	0	0	7	1	4	1	4	1	1	3	4	1	2	3	rs281864924		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:20648287G>A	ENST00000525748.1	+	8	1567	c.1294G>A	c.(1294-1296)Gta>Ata	p.V432I		NM_004211.3	NP_004202.2	Q9Y345	SC6A5_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 5	432					glycine import (GO:0036233)|synaptic transmission (GO:0007268)|synaptic transmission, glycinergic (GO:0060012)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	glycine:sodium symporter activity (GO:0015375)|neurotransmitter:sodium symporter activity (GO:0005328)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(34)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	63					Glycine(DB00145)	CCCGTATGTCGTACTCGTGAT	0.582																																						ENST00000525748.1																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(34)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	63	GRCh37	CX063756	SLC6A5	X		c.(1294-1296)Gta>Ata		solute carrier family 6 (neurotransmitter transporter), member 5	Glycine(DB00145)						133	118	123					11																	20648287		2203	4300	6503	SO:0001583	missense	9152				synaptic transmission	integral to membrane|plasma membrane	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity	g.chr11:20648287G>A	AF085412	CCDS7854.1	11p15.1	2013-07-19	2013-07-19		ENSG00000165970	ENSG00000165970		"Solute carriers"	11051	protein-coding gene	gene with protein product	"glycine transporter 2"	604159	"solute carrier family 6 (neurotransmitter transporter, glycine), member 5"	NET1		9845349	Standard	NM_004211		Approved	GLYT2	uc001mqd.3	Q9Y345	OTTHUMG00000166024	ENST00000525748.1:c.1294G>A	11.37:g.20648287G>A	ENSP00000434364:p.Val432Ile						p.V432I	NM_004211.3	NP_004202.2	Q9Y345	SC6A5_HUMAN			8	1567	+			432					O95288|Q4VAM7|Q9BX77	Missense_Mutation	SNP	ENST00000525748.1	37	c.1294G>A	CCDS7854.1	.	.	.	.	.	.	.	.	.	.	G	17.00	3.276625	0.59758	.	.	ENSG00000165970	ENST00000525748	T	0.76839	-1.05	6.04	6.04	0.98038	.	0.052641	0.85682	D	0.000000	D	0.84252	0.5431	L	0.42744	1.35	0.80722	D	1	D	0.76494	0.999	D	0.63793	0.918	D	0.83396	0.0020	10	0.52906	T	0.07	.	20.1743	0.98175	0.0:0.0:1.0:0.0	.	432	Q9Y345	SC6A5_HUMAN	I	432	ENSP00000434364:V432I	ENSP00000434364:V432I	V	+	1	0	SLC6A5	20604863	1.000000	0.71417	0.996000	0.52242	0.360000	0.29518	8.062000	0.89475	2.873000	0.98535	0.561000	0.74099	GTA		0.582	SLC6A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387497.2	NM_004211		22	28	0	0	0	1	0	22	28					A	20648287	G	A	20648287	3	1	435	1	0	0	0	0	1	0	0	0	14687	1145	40	1	1324	1	SLC6A5	11	20648287	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	746656	20648287	114358229	5067	25992											
SLC6A5	9152	broad.mit.edu	37	chr11	20652239	20652239	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggtctcttccttccagggAcactctaattgtcacctgca	7	13	7	14	0	3	0	1	0	2	0	6	1	5	1	3	2	1	1	3	2	1	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:20652239A>G	ENST00000525748.1	+	10	1775	c.1502A>G	c.(1501-1503)gAc>gGc	p.D501G	SLC6A5_ENST00000528440.1_3'UTR	NM_004211.3	NP_004202.2	Q9Y345	SC6A5_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 5	501					glycine import (GO:0036233)|synaptic transmission (GO:0007268)|synaptic transmission, glycinergic (GO:0060012)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	glycine:sodium symporter activity (GO:0015375)|neurotransmitter:sodium symporter activity (GO:0005328)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(34)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	63					Glycine(DB00145)	CCTTCCAGGGACACTCTAATT	0.502																																						ENST00000525748.1																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(34)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	63						c.(1501-1503)gAc>gGc		solute carrier family 6 (neurotransmitter transporter), member 5	Glycine(DB00145)						203	179	187					11																	20652239		2203	4300	6503	SO:0001583	missense	9152				synaptic transmission	integral to membrane|plasma membrane	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity	g.chr11:20652239A>G	AF085412	CCDS7854.1	11p15.1	2013-07-19	2013-07-19		ENSG00000165970	ENSG00000165970		"Solute carriers"	11051	protein-coding gene	gene with protein product	"glycine transporter 2"	604159	"solute carrier family 6 (neurotransmitter transporter, glycine), member 5"	NET1		9845349	Standard	NM_004211		Approved	GLYT2	uc001mqd.3	Q9Y345	OTTHUMG00000166024	ENST00000525748.1:c.1502A>G	11.37:g.20652239A>G	ENSP00000434364:p.Asp501Gly					SLC6A5_ENST00000528440.1_3'UTR	p.D501G	NM_004211.3	NP_004202.2	Q9Y345	SC6A5_HUMAN			10	1775	+			501					O95288|Q4VAM7|Q9BX77	Missense_Mutation	SNP	ENST00000525748.1	37	c.1502A>G	CCDS7854.1	.	.	.	.	.	.	.	.	.	.	A	27.1	4.800099	0.90538	.	.	ENSG00000165970	ENST00000525748	T	0.80393	-1.37	5.57	5.57	0.84162	.	0.084186	0.85682	D	0.000000	D	0.92743	0.7693	H	0.95539	3.685	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.94798	0.7968	10	0.87932	D	0	.	15.7239	0.77736	1.0:0.0:0.0:0.0	.	501	Q9Y345	SC6A5_HUMAN	G	501	ENSP00000434364:D501G	ENSP00000434364:D501G	D	+	2	0	SLC6A5	20608815	1.000000	0.71417	1.000000	0.80357	0.931000	0.56810	9.339000	0.96797	2.116000	0.64780	0.533000	0.62120	GAC		0.502	SLC6A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387497.2	NM_004211		13	56	0	0	0	1	0	13	56					G	20652239	A	G	20652239	3	3	435	1	0	0	0	0	1	0	0	0	14687	275	10	4	1540	4	SLC6A5	11	20652239	Missense_Mutation	SNP	A	TCGA-XK-AAIW-01A-11D-A41K-08	3952	20652239	114354277	5068	25993											
NELL1	4745	broad.mit.edu	37	chr11	21592318	21592318	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atttctaaacaggatggcaaGatattctgccgacggacagc	13	9	10	9	2	2	1	0	0	2	1	2	4	2	3	1	3	3	1	1	3	4	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:21592318G>T	ENST00000357134.5	+	18	2141	c.1989G>T	c.(1987-1989)aaG>aaT	p.K663N	NELL1_ENST00000298925.5_Missense_Mutation_p.K691N|NELL1_ENST00000325319.5_Missense_Mutation_p.K606N|NELL1_ENST00000532434.1_Missense_Mutation_p.K616N|NELL1_ENST00000529218.1_3'UTR	NM_006157.3|NM_201551.1	NP_006148.2|NP_963845.1	Q92832	NELL1_HUMAN	NEL-like 1 (chicken)	663					cell differentiation (GO:0030154)|negative regulation of cyclin catabolic process (GO:2000599)|negative regulation of osteoblast proliferation (GO:0033689)|nervous system development (GO:0007399)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|regulation of gene expression (GO:0010468)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|nuclear envelope (GO:0005635)|perinuclear region of cytoplasm (GO:0048471)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	70						AGGATGGCAAGATATTCTGCC	0.433																																						ENST00000298925.5																			0				NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	70						c.(2071-2073)aaG>aaT		NEL-like 1 (chicken)							114	105	108					11																	21592318		2203	4300	6503	SO:0001583	missense	4745				cell adhesion|nervous system development	extracellular region	calcium ion binding|structural molecule activity	g.chr11:21592318G>T	AK127805	CCDS7855.1, CCDS44555.1, CCDS73267.1, CCDS73268.1	11p15.1	2008-02-01	2001-11-28		ENSG00000165973	ENSG00000165973			7750	protein-coding gene	gene with protein product		602319	"nel (chicken)-like 1"			8975702	Standard	NM_006157		Approved	IDH3GL, FLJ45906	uc001mqe.3	Q92832	OTTHUMG00000166042	ENST00000357134.5:c.1989G>T	11.37:g.21592318G>T	ENSP00000349654:p.Lys663Asn					NELL1_ENST00000529218.1_3'UTR|NELL1_ENST00000325319.5_Missense_Mutation_p.K606N|NELL1_ENST00000532434.1_Missense_Mutation_p.K616N|NELL1_ENST00000357134.5_Missense_Mutation_p.K663N	p.K691N			Q92832	NELL1_HUMAN			19	2226	+			663					B2CKC1|Q4VB90|Q4VB91|Q6NSY8|Q9Y472	Missense_Mutation	SNP	ENST00000357134.5	37	c.2073G>T	CCDS7855.1	.	.	.	.	.	.	.	.	.	.	G	15.22	2.768860	0.49680	.	.	ENSG00000165973	ENST00000298925;ENST00000357134;ENST00000325319;ENST00000532434	T;T;T;T	0.79845	-1.31;-1.28;-1.21;-0.14	6.16	5.25	0.73442	.	0.185979	0.47093	D	0.000245	T	0.66752	0.2821	N	0.19112	0.55	0.43308	D	0.995313	P;P;P;B;P	0.44734	0.763;0.651;0.842;0.409;0.651	B;B;B;B;B	0.40329	0.229;0.115;0.326;0.189;0.115	T	0.64888	-0.6301	10	0.27785	T	0.31	-25.8576	11.1945	0.48704	0.1862:0.0:0.8138:0.0	.	606;691;208;616;663	F5H6I3;B3KXR2;Q8N9Z6;Q92832-2;Q92832	.;.;.;.;NELL1_HUMAN	N	691;663;606;616	ENSP00000298925:K691N;ENSP00000349654:K663N;ENSP00000317837:K606N;ENSP00000437170:K616N	ENSP00000298925:K691N	K	+	3	2	NELL1	21548894	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	2.644000	0.46613	2.937000	0.99478	0.650000	0.86243	AAG		0.433	NELL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387588.1	NM_006157		22	26	1	0	9.86323e-18	1	1.08645e-17	22	26					T	21592318	G	T	21592318	3	4	435	1	0	0	0	0	1	0	0	0	10333	933	33	5	2059	5	NELL1	11	21592318	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	940079	21592318	113414198	5069	25994											
SVIP	258010	broad.mit.edu	37	chr11	22849398	22849398	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtcttctctctgcagcctctGcaagctttgctcttttctct	3	18	6	14	0	6	0	0	0	6	0	8	0	6	0	1	0	5	4	1	0	1	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:22849398G>A	ENST00000354193.4	-	2	193	c.77C>T	c.(76-78)gCa>gTa	p.A26V	RP11-17A1.3_ENST00000499625.1_RNA|SVIP_ENST00000533774.1_5'UTR|RP11-17A1.3_ENST00000525963.1_RNA|RP11-17A1.3_ENST00000528701.1_RNA	NM_148893.1	NP_683691.1	Q8NHG7	SVIP_HUMAN	small VCP/p97-interacting protein	26					negative regulation of ER-associated ubiquitin-dependent protein catabolic process (GO:1903070)|negative regulation of protein complex assembly (GO:0031333)|positive regulation of autophagy (GO:0010508)|positive regulation of protein lipidation (GO:1903061)	endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	protein self-association (GO:0043621)			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)	3						TGCAGCCTCTGCAAGCTTTGC	0.284																																						ENST00000354193.4																			0				cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)	3						c.(76-78)gCa>gTa		small VCP/p97-interacting protein							138	126	130					11																	22849398		1808	4074	5882	SO:0001583	missense	258010					Golgi membrane|plasma membrane|smooth endoplasmic reticulum membrane		g.chr11:22849398G>A	AF527534	CCDS41627.1	11p14.2	2009-03-10				ENSG00000198168			25238	protein-coding gene	gene with protein product						18793143, 17872946, 12529442	Standard	NM_148893		Approved	DKFZp313A2432	uc001mqp.4	Q8NHG7		ENST00000354193.4:c.77C>T	11.37:g.22849398G>A	ENSP00000346130:p.Ala26Val					SVIP_ENST00000533774.1_5'UTR	p.A26V	NM_148893.1	NP_683691.1	Q8NHG7	SVIP_HUMAN			2	193	-			26						Missense_Mutation	SNP	ENST00000354193.4	37	c.77C>T	CCDS41627.1	.	.	.	.	.	.	.	.	.	.	G	17.94	3.510899	0.64522	.	.	ENSG00000198168	ENST00000354193	.	.	.	5.33	5.33	0.75918	.	0.000000	0.48767	D	0.000170	T	0.71609	0.3360	.	.	.	0.34873	D	0.7438	D	0.76494	0.999	D	0.83275	0.996	T	0.74466	-0.3656	8	0.26408	T	0.33	-11.3831	14.8587	0.70362	0.0:0.0:1.0:0.0	.	26	Q8NHG7	SVIP_HUMAN	V	26	.	ENSP00000346130:A26V	A	-	2	0	SVIP	22805974	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.572000	0.60886	2.649000	0.89929	0.655000	0.94253	GCA		0.284	SVIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387725.2	NM_148893		9	20	0	0	0	1	0	9	20					A	22849398	G	A	22849398	3	1	435	1	0	0	0	0	1	0	0	0	15419	1319	46	3	168	3	SVIP	11	22849398	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	1257080	22849398	112157118	5070	25995											
LGR4	55366	broad.mit.edu	37	chr11	27390171	27390171	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaatcctaatgatggcgttTcacctgtaggaaatggcaaa	13	11	10	7	1	1	2	1	2	0	0	2	3	2	3	2	3	0	3	2	3	5	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:27390171T>C	ENST00000379214.4	-	18	2542	c.2099A>G	c.(2098-2100)gAa>gGa	p.E700G	LGR4_ENST00000389858.4_Missense_Mutation_p.E676G	NM_018490.2	NP_060960.2	Q9BXB1	LGR4_HUMAN	leucine-rich repeat containing G protein-coupled receptor 4	700					bone mineralization (GO:0030282)|bone remodeling (GO:0046849)|canonical Wnt signaling pathway involved in metanephric kidney development (GO:0061290)|cell differentiation involved in metanephros development (GO:0072202)|epithelial cell proliferation (GO:0050673)|innate immune response (GO:0045087)|male genitalia development (GO:0030539)|metanephric glomerulus development (GO:0072224)|metanephric nephron tubule morphogenesis (GO:0072282)|negative regulation of cytokine secretion (GO:0050710)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|negative regulation of transcription, DNA-templated (GO:0045892)|osteoblast differentiation (GO:0001649)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of transcription, DNA-templated (GO:0045893)|spermatogenesis (GO:0007283)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)|transmembrane signaling receptor activity (GO:0004888)			NS(3)|breast(2)|endometrium(3)|kidney(2)|large_intestine(11)|lung(10)|ovary(1)	32						TGATGGCGTTTCACCTGTAGG	0.408																																						ENST00000379214.4																			0				NS(3)|breast(2)|endometrium(3)|kidney(2)|large_intestine(11)|lung(10)|ovary(1)	32						c.(2098-2100)gAa>gGa		leucine-rich repeat containing G protein-coupled receptor 4							96	88	91					11																	27390171		2202	4299	6501	SO:0001583	missense	55366					integral to membrane|plasma membrane	protein-hormone receptor activity	g.chr11:27390171T>C	AF257182	CCDS31449.1	11p14-p13	2012-08-21	2011-01-25	2004-11-12	ENSG00000205213	ENSG00000205213		"GPCR / Class A : Orphans"	13299	protein-coding gene	gene with protein product		606666	"G protein-coupled receptor 48", "leucine-rich repeat-containing G protein-coupled receptor 4"	GPR48		10894923	Standard	NM_018490		Approved		uc001mrj.4	Q9BXB1	OTTHUMG00000133508	ENST00000379214.4:c.2099A>G	11.37:g.27390171T>C	ENSP00000368516:p.Glu700Gly					LGR4_ENST00000389858.4_Missense_Mutation_p.E676G	p.E700G	NM_018490.2	NP_060960.2	Q9BXB1	LGR4_HUMAN			18	2542	-			700					A6NCH3|G5E9B3|Q8N537|Q9NYD1	Missense_Mutation	SNP	ENST00000379214.4	37	c.2099A>G	CCDS31449.1	.	.	.	.	.	.	.	.	.	.	T	8.340	0.828421	0.16749	.	.	ENSG00000205213	ENST00000379214;ENST00000389858	T;T	0.37411	1.2;1.2	5.43	5.43	0.79202	GPCR, rhodopsin-like superfamily (1);	0.313517	0.35013	N	0.003520	T	0.33440	0.0863	N	0.25485	0.75	0.80722	D	1	B;P	0.43938	0.009;0.822	B;P	0.45753	0.018;0.492	T	0.05784	-1.0864	10	0.35671	T	0.21	.	15.4736	0.75458	0.0:0.0:0.0:1.0	.	676;700	G5E9B3;Q9BXB1	.;LGR4_HUMAN	G	700;676	ENSP00000368516:E700G;ENSP00000374508:E676G	ENSP00000368516:E700G	E	-	2	0	LGR4	27346747	1.000000	0.71417	0.667000	0.29798	0.249000	0.25844	3.810000	0.55613	2.060000	0.61445	0.454000	0.30748	GAA		0.408	LGR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257467.1	NM_018490		30	40	0	0	0	1	0	30	40					C	27390171	T	C	27390171	3	2	435	1	0	0	0	0	1	0	0	0	8756	1783	62	4	760	4	LGR4	11	27390171	Missense_Mutation	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	4540773	27390171	107616345	5071	25996											
LGR4	55366	broad.mit.edu	37	chr11	27395187	27395187	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tttagcccattcaggccttcCgtaggaaaggaagttaattc	11	12	9	9	1	1	0	1	0	0	0	3	2	2	2	3	3	1	2	3	3	5	7			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:27395187C>T	ENST00000379214.4	-	15	1733	c.1290G>A	c.(1288-1290)acG>acA	p.T430T	LGR4_ENST00000389858.4_Silent_p.T406T	NM_018490.2	NP_060960.2	Q9BXB1	LGR4_HUMAN	leucine-rich repeat containing G protein-coupled receptor 4	430					bone mineralization (GO:0030282)|bone remodeling (GO:0046849)|canonical Wnt signaling pathway involved in metanephric kidney development (GO:0061290)|cell differentiation involved in metanephros development (GO:0072202)|epithelial cell proliferation (GO:0050673)|innate immune response (GO:0045087)|male genitalia development (GO:0030539)|metanephric glomerulus development (GO:0072224)|metanephric nephron tubule morphogenesis (GO:0072282)|negative regulation of cytokine secretion (GO:0050710)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|negative regulation of transcription, DNA-templated (GO:0045892)|osteoblast differentiation (GO:0001649)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of transcription, DNA-templated (GO:0045893)|spermatogenesis (GO:0007283)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)|transmembrane signaling receptor activity (GO:0004888)			NS(3)|breast(2)|endometrium(3)|kidney(2)|large_intestine(11)|lung(10)|ovary(1)	32						TCAGGCCTTCCGTAGGAAAGG	0.358																																						ENST00000379214.4																			0				NS(3)|breast(2)|endometrium(3)|kidney(2)|large_intestine(11)|lung(10)|ovary(1)	32						c.(1288-1290)acG>acA		leucine-rich repeat containing G protein-coupled receptor 4							87	89	88					11																	27395187		2202	4299	6501	SO:0001819	synonymous_variant	55366					integral to membrane|plasma membrane	protein-hormone receptor activity	g.chr11:27395187C>T	AF257182	CCDS31449.1	11p14-p13	2012-08-21	2011-01-25	2004-11-12	ENSG00000205213	ENSG00000205213		"GPCR / Class A : Orphans"	13299	protein-coding gene	gene with protein product		606666	"G protein-coupled receptor 48", "leucine-rich repeat-containing G protein-coupled receptor 4"	GPR48		10894923	Standard	NM_018490		Approved		uc001mrj.4	Q9BXB1	OTTHUMG00000133508	ENST00000379214.4:c.1290G>A	11.37:g.27395187C>T						LGR4_ENST00000389858.4_Silent_p.T406T	p.T430T	NM_018490.2	NP_060960.2	Q9BXB1	LGR4_HUMAN			15	1733	-			430					A6NCH3|G5E9B3|Q8N537|Q9NYD1	Silent	SNP	ENST00000379214.4	37	c.1290G>A	CCDS31449.1																																																																																				0.358	LGR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257467.1	NM_018490		29	41	0	0	0	1	0	29	41					T	27395187	C	T	27395187	2	4	435	1	0	0	0	0	0	0	0	1	8756	639	23	2		2	LGR4	11	27395187	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	5016	27395187	107611329	5072	25997											
BDNF	627	broad.mit.edu	37	chr11	27722532	27722532	+	De_novo_Start_OutOfFrame	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acacaccttcccgcaccttcCtgcactacggagcttgcgaa	9	8	7	17	3	0	0	0	0	0	0	2	2	2	1	4	1	4	3	4	1	2	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:27722532C>A	ENST00000395983.3	-	0	68				BDNF_ENST00000418212.1_5'Flank|BDNF_ENST00000395986.2_5'Flank|BDNF_ENST00000533246.1_5'Flank|BDNF_ENST00000530861.1_5'Flank|BDNF_ENST00000420794.1_De_novo_Start_OutOfFrame|BDNF_ENST00000438929.1_De_novo_Start_OutOfFrame|BDNF_ENST00000356660.4_5'Flank|RP11-587D21.4_ENST00000530663.1_RNA|BDNF_ENST00000584049.1_Intron|BDNF_ENST00000533131.1_5'Flank|BDNF_ENST00000395978.3_Intron|BDNF_ENST00000525950.1_Intron|BDNF-AS_ENST00000500662.2_RNA|BDNF_ENST00000395980.2_Intron|BDNF_ENST00000314915.6_Intron|BDNF-AS_ENST00000502161.2_RNA|BDNF_ENST00000532997.1_Intron|BDNF-AS_ENST00000499568.2_RNA|BDNF_ENST00000395981.3_Intron	NM_001143808.1|NM_001143809.1	NP_001137280.1|NP_001137281.1	P23560	BDNF_HUMAN	brain-derived neurotrophic factor						axon extension (GO:0048675)|axon guidance (GO:0007411)|axon target recognition (GO:0007412)|behavioral fear response (GO:0001662)|chronic inflammatory response (GO:0002544)|circadian rhythm (GO:0007623)|dendrite development (GO:0016358)|dendrite extension (GO:0097484)|feeding behavior (GO:0007631)|gamma-aminobutyric acid signaling pathway (GO:0007214)|glutamate secretion (GO:0014047)|inner ear development (GO:0048839)|learning or memory (GO:0007611)|mechanoreceptor differentiation (GO:0042490)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of striated muscle tissue development (GO:0045843)|negative regulation of synaptic transmission, GABAergic (GO:0032229)|nerve development (GO:0021675)|nervous system development (GO:0007399)|neuron recognition (GO:0008038)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of synapse assembly (GO:0051965)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of retinal cell programmed cell death (GO:0046668)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|response to anesthetic (GO:0072347)|response to fluoxetine (GO:0014076)|response to hormone (GO:0009725)|response to hyperoxia (GO:0055093)|response to hypoxia (GO:0001666)|response to vitamin A (GO:0033189)|taste bud development (GO:0061193)|ureteric bud development (GO:0001657)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|perinuclear region of cytoplasm (GO:0048471)|synaptic vesicle (GO:0008021)	growth factor activity (GO:0008083)			breast(1)|large_intestine(3)|lung(2)	6						CCGCACCTTCCTGCACTACGG	0.572																																						ENST00000420794.1																			0				breast(1)|large_intestine(3)|lung(2)	6								brain-derived neurotrophic factor							49	47	47					11																	27722532		1566	3564	5130			627					extracellular region	growth factor activity	g.chr11:27722532C>A	AB038670	CCDS7865.1, CCDS7866.1, CCDS44558.1, CCDS41628.1	11p14.1	2014-01-30			ENSG00000176697	ENSG00000176697		"Endogenous ligands"	1033	protein-coding gene	gene with protein product	"neurotrophin"	113505				2236018, 1889806, 17942328, 17493809	Standard	NM_170731		Approved		uc009yje.3	P23560	OTTHUMG00000178797	ENST00000395983.3:c.-36G>T	11.37:g.27722532C>A						BDNF_ENST00000395978.3_Intron|BDNF_ENST00000395983.3_De_novo_Start_OutOfFrame|BDNF_ENST00000525950.1_Intron|BDNF_ENST00000395980.2_Intron|BDNF_ENST00000584049.1_Intron|BDNF_ENST00000438929.1_De_novo_Start_OutOfFrame|BDNF_ENST00000314915.6_Intron|BDNF_ENST00000395981.3_Intron|RP11-587D21.4_ENST00000530663.1_RNA|BDNF_ENST00000532997.1_Intron		NM_001143811.1	NP_001137283.1	P23560	BDNF_HUMAN			0	68	-								A7LA85|A7LA92|D3DQZ2|Q598Q1|Q6DN19|Q6YNR2|Q6YNR3|Q9BYY7|Q9UC24	Translation_Start_Site	SNP	ENST00000395983.3	37		CCDS7866.1																																																																																				0.572	BDNF-007	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388101.1	NM_170735		5	7	1	0	8.12818e-05	1	8.34155e-05	5	7					A	27722532	C	A	27722532	1	1	435	1	0	1	0	0	0	0	0	0	1394	690	24	5		5	BDNF	11	27722532	De_novo_Start_OutOfFrame	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	327345	27722532	107283984	5073	25998											
METT5D1	196074	broad.mit.edu	37	chr11	28318407	28318407	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagcatgccaagaaaatcgCttcagcaattgttcaggcac	14	8	9	10	1	2	1	2	0	0	1	3	2	2	1	1	1	3	5	1	1	5	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:28318407C>A	ENST00000407364.3	+	6	1059	c.707C>A	c.(706-708)gCt>gAt	p.A236D	METTL15_ENST00000406787.3_Silent_p.R221R|METTL15_ENST00000303459.6_Missense_Mutation_p.A236D|METTL15_ENST00000342303.5_Missense_Mutation_p.A236D			A6NJ78	MET15_HUMAN	methyltransferase like 15	236							methyltransferase activity (GO:0008168)			NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(2)|ovary(2)|skin(1)|urinary_tract(1)	14						AAGAAAATCGCTTCAGCAATT	0.488																																						ENST00000342303.5																			0				NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(2)|ovary(2)|skin(1)|urinary_tract(1)	14						c.(706-708)gCt>gAt		methyltransferase like 15							124	107	113					11																	28318407		2202	4299	6501	SO:0001583	missense	196074						methyltransferase activity	g.chr11:28318407C>A	AL832668	CCDS31450.1, CCDS44559.1, CCDS73269.1	11p14.1	2011-03-02	2011-03-02	2011-03-02	ENSG00000169519	ENSG00000169519			26606	protein-coding gene	gene with protein product			"methyltransferase 5 domain containing 1"	METT5D1		12477932	Standard	NM_152636		Approved	FLJ33979	uc001msh.2	A6NJ78	OTTHUMG00000150448	ENST00000407364.3:c.707C>A	11.37:g.28318407C>A	ENSP00000384369:p.Ala236Asp					METTL15_ENST00000406787.3_Silent_p.R221R|METTL15_ENST00000407364.3_Missense_Mutation_p.A236D|METTL15_ENST00000303459.6_Missense_Mutation_p.A236D	p.A236D	NM_152636.2	NP_689849.2	A6NJ78	MET15_HUMAN			6	1162	+			236					A8MRS5|B7WNU2|Q3MHD3|Q8N601|Q8NBA7	Missense_Mutation	SNP	ENST00000407364.3	37	c.707C>A	CCDS44559.1	.	.	.	.	.	.	.	.	.	.	C	24.6	4.552112	0.86127	.	.	ENSG00000169519	ENST00000342303;ENST00000407364;ENST00000303459	T;T;T	0.54071	0.59;0.59;0.59	5.43	5.43	0.79202	S-adenosyl-L-methionine-dependent methyltransferase, MraW, recognition domain (2);	0.058572	0.64402	D	0.000002	D	0.84019	0.5380	H	0.98525	4.255	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.996;0.997	D	0.90410	0.4409	9	.	.	.	.	18.2327	0.89939	0.0:1.0:0.0:0.0	.	236;236	A6NJ78;A6NJ78-2	MET15_HUMAN;.	D	236	ENSP00000342259:A236D;ENSP00000384369:A236D;ENSP00000307251:A236D	.	A	+	2	0	METTL15	28274983	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.436000	0.80404	2.516000	0.84829	0.650000	0.86243	GCT		0.488	METTL15-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318135.2	NM_152636		14	46	1	0	0.000219431	1	0.000224427	14	46					A	28318407	C	A	28318407	3	1	435	1	0	0	0	0	1	0	0	0	9492	797	28	5	721	5	METT5D1	11	28318407	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	595875	28318407	106688109	5074	25999											
KCNA4	3739	broad.mit.edu	37	chr11	30032763	30032763	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cactagaaaagaggatgaccCcaatgaagaggaagaagatc	19	4	11	7	0	0	7	0	2	0	5	1	9	0	9	2	2	0	0	2	2	7	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:30032763C>T	ENST00000328224.6	-	2	2696	c.1463G>A	c.(1462-1464)gGg>gAg	p.G488E	KCNA4_ENST00000526518.1_5'Flank	NM_002233.3	NP_002224.1	P22459	KCNA4_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 4	488					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	potassium ion binding (GO:0030955)|voltage-gated potassium channel activity (GO:0005249)			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	78					Dalfampridine(DB06637)	GAGGATGACCCCAATGAAGAG	0.527																																						ENST00000328224.6																			0				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	78						c.(1462-1464)gGg>gAg		potassium voltage-gated channel, shaker-related subfamily, member 4							59	62	61					11																	30032763		2133	4272	6405	SO:0001583	missense	3739					voltage-gated potassium channel complex	potassium ion binding|protein binding|voltage-gated potassium channel activity	g.chr11:30032763C>T	M55514	CCDS41629.1	11p14	2012-07-05	2002-07-10			ENSG00000182255		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6222	protein-coding gene	gene with protein product		176266	"potassium voltage-gated channel, shaker-related subfamily, member 4-like"	KCNA4L		2263489, 16382104	Standard	NM_002233		Approved	Kv1.4, HK1, HPCN2	uc001msk.3	P22459		ENST00000328224.6:c.1463G>A	11.37:g.30032763C>T	ENSP00000328511:p.Gly488Glu						p.G488E	NM_002233.3	NP_002224.1	P22459	KCNA4_HUMAN			2	2696	-			488						Missense_Mutation	SNP	ENST00000328224.6	37	c.1463G>A	CCDS41629.1	.	.	.	.	.	.	.	.	.	.	C	19.58	3.854619	0.71719	.	.	ENSG00000182255	ENST00000328224	D	0.98550	-4.99	5.57	5.57	0.84162	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99302	0.9756	H	0.94385	3.53	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	D	0.98934	1.0788	10	0.87932	D	0	.	19.563	0.95380	0.0:1.0:0.0:0.0	.	488	P22459	KCNA4_HUMAN	E	488	ENSP00000328511:G488E	ENSP00000328511:G488E	G	-	2	0	KCNA4	29989339	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.818000	0.86416	2.619000	0.88677	0.650000	0.86243	GGG		0.527	KCNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388074.2	NM_002233		11	21	0	0	0	1	0	11	21					T	30032763	C	T	30032763	3	4	435	1	0	0	0	0	1	0	0	0	8005	623	22	3	502	3	KCNA4	11	30032763	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	1714356	30032763	104973753	5075	26000											
IMMP1L	196294	broad.mit.edu	37	chr11	31484797	31484797	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtatagccaacaagtcgaaaGgttttccccagaacaccacg	14	7	8	12	2	0	1	0	0	0	1	2	2	1	1	4	1	3	2	4	1	6	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:31484797G>T	ENST00000278200.1	-	3	222	c.27C>A	c.(25-27)acC>acA	p.T9T	IMMP1L_ENST00000533642.1_Intron|IMMP1L_ENST00000526776.1_Silent_p.T9T|IMMP1L_ENST00000528161.1_Intron|IMMP1L_ENST00000532287.1_Silent_p.T9T|IMMP1L_ENST00000534812.1_Intron	NM_144981.1	NP_659418.1	Q96LU5	IMP1L_HUMAN	IMP1 inner mitochondrial membrane peptidase-like (S. cerevisiae)	9					protein processing involved in protein targeting to mitochondrion (GO:0006627)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	serine-type peptidase activity (GO:0008236)			breast(1)|cervix(1)|large_intestine(1)|lung(4)	7	Lung SC(675;0.225)					CAAGTCGAAAGGTTTTCCCCA	0.363																																						ENST00000278200.1																			0				breast(1)|cervix(1)|large_intestine(1)|lung(4)	7						c.(25-27)acC>acA		IMP1 inner mitochondrial membrane peptidase-like (S. cerevisiae)							116	96	103					11																	31484797		2202	4299	6501	SO:0001819	synonymous_variant	196294				proteolysis	mitochondrial inner membrane	serine-type peptidase activity	g.chr11:31484797G>T		CCDS7874.1	11p13	2014-07-30			ENSG00000148950	ENSG00000148950			26317	protein-coding gene	gene with protein product		612323					Standard	NM_144981		Approved	FLJ25059	uc001msy.1	Q96LU5	OTTHUMG00000166226	ENST00000278200.1:c.27C>A	11.37:g.31484797G>T						IMMP1L_ENST00000532287.1_Silent_p.T9T|IMMP1L_ENST00000534812.1_Intron|IMMP1L_ENST00000528161.1_Intron|IMMP1L_ENST00000533642.1_Intron|IMMP1L_ENST00000526776.1_Silent_p.T9T	p.T9T	NM_144981.1	NP_659418.1	Q96LU5	IMP1L_HUMAN			3	222	-	Lung SC(675;0.225)		9					D3DQZ7|Q96SH9	Silent	SNP	ENST00000278200.1	37	c.27C>A	CCDS7874.1																																																																																				0.363	IMMP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388496.1	NM_144981		26	33	1	0	2.65835e-16	1	2.91848e-16	26	33					T	31484797	G	T	31484797	2	4	435	1	0	0	0	0	0	0	0	1	7716	987	35	5		5	IMMP1L	11	31484797	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	1452034	31484797	103521719	5076	26001											
ELP4	26610	broad.mit.edu	37	chr11	31653919	31653919	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgagaacctctctttcagcCtgcatcatcacaatgccaac	11	10	5	15	0	4	1	3	1	1	1	5	2	4	1	3	0	5	1	3	0	3	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:31653919C>A	ENST00000350638.5	+	7	929	c.894C>A	c.(892-894)gcC>gcA	p.A298A	ELP4_ENST00000395934.2_Silent_p.A298A|ELP4_ENST00000379163.5_Silent_p.A299A	NM_019040.3	NP_061913.3	Q96EB1	ELP4_HUMAN	elongator acetyltransferase complex subunit 4	298					chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|regulation of protein kinase activity (GO:0045859)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription elongation from RNA polymerase II promoter (GO:0006368)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|Elongator holoenzyme complex (GO:0033588)|transcription elongation factor complex (GO:0008023)	phosphorylase kinase regulator activity (GO:0008607)			breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(3)	20	Lung SC(675;0.225)					CTCTTTCAGCCTGCATCATCA	0.413																																						ENST00000395934.2																			0				breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(3)	20						c.(892-894)gcC>gcA		elongator acetyltransferase complex subunit 4							136	133	134					11																	31653919		1932	4154	6086	SO:0001819	synonymous_variant	26610				histone acetylation|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|DNA-directed RNA polymerase II, holoenzyme|Elongator holoenzyme complex|transcription elongation factor complex	phosphorylase kinase regulator activity|protein binding	g.chr11:31653919C>A	AJ276005	CCDS7875.2, CCDS73271.1, CCDS73272.1	11p13	2012-08-14	2012-08-08	2002-05-24	ENSG00000109911	ENSG00000109911		"Elongator acetyltransferase complex subunits"	1171	protein-coding gene	gene with protein product		606985	"chromosome 11 open reading frame 19", "elongation protein 4 homolog (S. cerevisiae)"	C11orf19		11889558, 11435442	Standard	XM_005252865		Approved	PAXNEB	uc001mtb.3	Q96EB1	OTTHUMG00000142919	ENST00000350638.5:c.894C>A	11.37:g.31653919C>A						ELP4_ENST00000379163.5_Silent_p.A299A|ELP4_ENST00000350638.5_Silent_p.A298A	p.A298A			Q96EB1	ELP4_HUMAN			7	901	+	Lung SC(675;0.225)		298					B4E3W0|E7EPZ6|Q9H4E8|Q9NX11	Silent	SNP	ENST00000350638.5	37	c.894C>A	CCDS7875.2																																																																																				0.413	ELP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286640.1	NM_019040		21	30	1	0	1.28384e-07	1	1.34682e-07	21	30					A	31653919	C	A	31653919	2	1	435	1	0	0	0	0	0	0	0	1	5082	668	24	5		5	ELP4	11	31653919	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	169122	31653919	103352597	5077	26002											
WT1	7490	broad.mit.edu	37	chr11	32410718	32410718	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggccaccgacagctgaagggCttttcacctgttgacacaat	10	9	10	12	1	1	2	1	2	0	0	1	3	1	2	3	2	1	3	3	2	2	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:32410718C>A	ENST00000379079.2	-	10	1068	c.795G>T	c.(793-795)aaG>aaT	p.K265N	WT1_ENST00000332351.3_Missense_Mutation_p.K480N|WT1_ENST00000448076.3_Missense_Mutation_p.K477N|WT1_ENST00000530998.1_Missense_Mutation_p.K251N	NM_001198551.1	NP_001185480.1	P19544	WT1_HUMAN	Wilms tumor 1	412					adrenal cortex formation (GO:0035802)|adrenal gland development (GO:0030325)|branching involved in ureteric bud morphogenesis (GO:0001658)|camera-type eye development (GO:0043010)|cardiac muscle cell fate commitment (GO:0060923)|cellular response to cAMP (GO:0071320)|cellular response to gonadotropin stimulus (GO:0071371)|diaphragm development (GO:0060539)|epithelial cell differentiation (GO:0030855)|germ cell development (GO:0007281)|glomerular basement membrane development (GO:0032836)|glomerular visceral epithelial cell differentiation (GO:0072112)|glomerulus development (GO:0032835)|gonad development (GO:0008406)|heart development (GO:0007507)|kidney development (GO:0001822)|male genitalia development (GO:0030539)|male gonad development (GO:0008584)|mesenchymal to epithelial transition (GO:0060231)|metanephric epithelium development (GO:0072207)|metanephric mesenchyme development (GO:0072075)|metanephric S-shaped body morphogenesis (GO:0072284)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of female gonad development (GO:2000195)|negative regulation of metanephric glomerular mesangial cell proliferation (GO:0072302)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of translation (GO:0017148)|positive regulation of apoptotic process (GO:0043065)|positive regulation of heart growth (GO:0060421)|positive regulation of male gonad development (GO:2000020)|positive regulation of metanephric ureteric bud development (GO:2001076)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|posterior mesonephric tubule development (GO:0072166)|regulation of organ formation (GO:0003156)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|sex determination (GO:0007530)|thorax and anterior abdomen determination (GO:0007356)|tissue development (GO:0009888)|ureteric bud development (GO:0001657)|vasculogenesis (GO:0001570)|visceral serous pericardium development (GO:0061032)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|RNA binding (GO:0003723)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)		EWSR1/WT1(234)	NS(1)|haematopoietic_and_lymphoid_tissue(348)|kidney(149)|large_intestine(9)|lung(20)|peritoneum(1)|pleura(2)|skin(2)|upper_aerodigestive_tract(1)	533	Breast(20;0.247)		OV - Ovarian serous cystadenocarcinoma(30;0.128)			AGCTGAAGGGCTTTTCACCTG	0.483			"D, Mis, N, F, S"	EWSR1	"Wilms, desmoplastic small round cell tumor"	Wilms			Wilms' tumor-Aniridia-ambiguous Genitals-mental Retardation;Frasier syndrome;Familial Wilms' tumor;Denys-Drash syndrome																													ENST00000332351.3			yes	Rec	yes	"Denys-Drash syndrome, Frasier syndrome, Familial Wilms tumor"	11	11p13	7490	"D, Mis, N, F, S"	Wilms tumour 1 gene			O	EWSR1	Wilms	"Wilms, desmoplastic small round cell tumor"	EWSR1/WT1(234)	0				NS(1)|haematopoietic_and_lymphoid_tissue(348)|kidney(149)|large_intestine(9)|lung(20)|peritoneum(1)|pleura(2)|skin(2)|upper_aerodigestive_tract(1)	533						c.(1438-1440)aaG>aaT		Wilms tumor 1							137	129	132					11																	32410718		2202	4299	6501	SO:0001583	missense	7490	Wilms' tumor-Aniridia-ambiguous Genitals-mental Retardation;Frasier syndrome;Familial Wilms' tumor;Denys-Drash syndrome	Familial Cancer Database	WAGR syndrome; ; ;incl.: Early Onset Nephrotic Syndrome-WT1 associated	adrenal cortex formation|branching involved in ureteric bud morphogenesis|camera-type eye development|cardiac muscle cell fate commitment|cellular response to cAMP|cellular response to gonadotropin stimulus|germ cell development|glomerular basement membrane development|glomerular visceral epithelial cell differentiation|induction of apoptosis|male genitalia development|male gonad development|mesenchymal to epithelial transition|metanephric epithelium development|metanephric S-shaped body morphogenesis|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of female gonad development|negative regulation of metanephric glomerular mesangial cell proliferation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|negative regulation of translation|positive regulation of male gonad development|positive regulation of transcription, DNA-dependent|posterior mesonephric tubule development|regulation of organ formation|RNA splicing|sex determination|vasculogenesis|visceral serous pericardium development	cytoplasm|nuclear speck|nucleoplasm	C2H2 zinc finger domain binding|RNA binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr11:32410718C>A		CCDS7878.2, CCDS44561.1, CCDS44562.1, CCDS55750.1, CCDS55751.1	11p13	2014-09-17			ENSG00000184937	ENSG00000184937		"Zinc fingers, C2H2-type"	12796	protein-coding gene	gene with protein product		607102		GUD		14681303	Standard	NM_024424		Approved	WAGR, WIT-2, AWT1	uc001mtn.2	P19544	OTTHUMG00000039556	ENST00000379079.2:c.795G>T	11.37:g.32410718C>A	ENSP00000368370:p.Lys265Asn					WT1_ENST00000448076.3_Missense_Mutation_p.K477N|WT1_ENST00000379079.2_Missense_Mutation_p.K265N|WT1_ENST00000530998.1_Missense_Mutation_p.K251N	p.K480N	NM_024424.3|NM_024426.4	NP_077742.2|NP_077744.3	P19544	WT1_HUMAN	OV - Ovarian serous cystadenocarcinoma(30;0.128)		10	1724	-	Breast(20;0.247)		412					A8K6S1|B3KSA5|Q15881|Q16256|Q16575|Q4VXV4|Q4VXV5|Q4VXV6|Q8IYZ5	Missense_Mutation	SNP	ENST00000379079.2	37	c.1440G>T	CCDS55751.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.78|19.78	3.891176|3.891176	0.72524|0.72524	.|.	.|.	ENSG00000184937|ENSG00000184937	ENST00000527882|ENST00000379079;ENST00000332351;ENST00000530998;ENST00000452863;ENST00000448076	.|T;T;T;T;T	.|0.64618	.|1.76;-0.11;-0.11;1.76;1.76	5.58|5.58	3.7|3.7	0.42460|0.42460	.|Zinc finger, C2H2-type/integrase, DNA-binding (1);	.|0.000000	.|0.64402	.|U	.|0.000001	T|T	0.76898|0.76898	0.4052|0.4052	M|M	0.74546|0.74546	2.27|2.27	0.80722|0.80722	D|D	1|1	.|D;D;D;D;D	.|0.89917	.|1.0;1.0;1.0;1.0;0.999	.|D;D;D;D;D	.|0.97110	.|1.0;1.0;1.0;0.999;0.999	T|T	0.78127|0.78127	-0.2325|-0.2325	5|10	.|0.87932	.|D	.|0	.|.	11.7948|11.7948	0.52093|0.52093	0.0:0.8576:0.0:0.1424|0.0:0.8576:0.0:0.1424	.|.	.|468;412;485;251;265	.|P19544-8;P19544;P19544-7;B3KSA5;P19544-6	.|.;WT1_HUMAN;.;.;.	S|N	141|265;480;251;460;477	.|ENSP00000368370:K265N;ENSP00000331327:K480N;ENSP00000435307:K251N;ENSP00000415516:K460N;ENSP00000413452:K477N	.|ENSP00000331327:K480N	A|K	-|-	1|3	0|2	WT1|WT1	32367294|32367294	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	2.414000|2.414000	0.44627|0.44627	0.699000|0.699000	0.31761|0.31761	0.561000|0.561000	0.74099|0.74099	GCC|AAG		0.483	WT1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000095434.1	NM_000378		22	40	1	0	2.79863e-10	1	2.98826e-10	22	40					A	32410718	C	A	32410718	3	1	435	1	0	0	0	0	1	0	0	0	17405	796	28	5	117	5	WT1	11	32410718	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	756799	32410718	102595798	5078	26003											
WT1	7490	broad.mit.edu	37	chr11	32413578	32413578	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtcggaccgggagaactttcGctgacaagttttacactgga	10	10	12	9	3	0	2	0	1	0	1	2	5	0	4	1	3	2	2	1	3	3	3	rs121907909		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:32413578G>A	ENST00000379079.2	-	9	1009	c.736C>T	c.(736-738)Cga>Tga	p.R246*	WT1_ENST00000332351.3_Nonsense_Mutation_p.R458*|WT1_ENST00000448076.3_Nonsense_Mutation_p.R458*|WT1_ENST00000530998.1_Nonsense_Mutation_p.R229*	NM_001198551.1	NP_001185480.1	P19544	WT1_HUMAN	Wilms tumor 1	390					adrenal cortex formation (GO:0035802)|adrenal gland development (GO:0030325)|branching involved in ureteric bud morphogenesis (GO:0001658)|camera-type eye development (GO:0043010)|cardiac muscle cell fate commitment (GO:0060923)|cellular response to cAMP (GO:0071320)|cellular response to gonadotropin stimulus (GO:0071371)|diaphragm development (GO:0060539)|epithelial cell differentiation (GO:0030855)|germ cell development (GO:0007281)|glomerular basement membrane development (GO:0032836)|glomerular visceral epithelial cell differentiation (GO:0072112)|glomerulus development (GO:0032835)|gonad development (GO:0008406)|heart development (GO:0007507)|kidney development (GO:0001822)|male genitalia development (GO:0030539)|male gonad development (GO:0008584)|mesenchymal to epithelial transition (GO:0060231)|metanephric epithelium development (GO:0072207)|metanephric mesenchyme development (GO:0072075)|metanephric S-shaped body morphogenesis (GO:0072284)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of female gonad development (GO:2000195)|negative regulation of metanephric glomerular mesangial cell proliferation (GO:0072302)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of translation (GO:0017148)|positive regulation of apoptotic process (GO:0043065)|positive regulation of heart growth (GO:0060421)|positive regulation of male gonad development (GO:2000020)|positive regulation of metanephric ureteric bud development (GO:2001076)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|posterior mesonephric tubule development (GO:0072166)|regulation of organ formation (GO:0003156)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|sex determination (GO:0007530)|thorax and anterior abdomen determination (GO:0007356)|tissue development (GO:0009888)|ureteric bud development (GO:0001657)|vasculogenesis (GO:0001570)|visceral serous pericardium development (GO:0061032)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|RNA binding (GO:0003723)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.R390*(9)|p.V380_S410del(1)	EWSR1/WT1(234)	NS(1)|haematopoietic_and_lymphoid_tissue(348)|kidney(149)|large_intestine(9)|lung(20)|peritoneum(1)|pleura(2)|skin(2)|upper_aerodigestive_tract(1)	533	Breast(20;0.247)		OV - Ovarian serous cystadenocarcinoma(30;0.128)			GAGAACTTTCGCTGACAAGTT	0.458			"D, Mis, N, F, S"	EWSR1	"Wilms, desmoplastic small round cell tumor"	Wilms			Wilms' tumor-Aniridia-ambiguous Genitals-mental Retardation;Frasier syndrome;Familial Wilms' tumor;Denys-Drash syndrome																													ENST00000332351.3			yes	Rec	yes	"Denys-Drash syndrome, Frasier syndrome, Familial Wilms tumor"	11	11p13	7490	"D, Mis, N, F, S"	Wilms tumour 1 gene			O	EWSR1	Wilms	"Wilms, desmoplastic small round cell tumor"	EWSR1/WT1(234)	10	Substitution - Nonsense(9)|Deletion - In frame(1)	p.R390*(9)|p.V380_S410del(1)	kidney(6)|haematopoietic_and_lymphoid_tissue(4)	NS(1)|haematopoietic_and_lymphoid_tissue(348)|kidney(149)|large_intestine(9)|lung(20)|peritoneum(1)|pleura(2)|skin(2)|upper_aerodigestive_tract(1)	533	GRCh37	CM971596	WT1	M	rs121907909	c.(1372-1374)Cga>Tga		Wilms tumor 1							178	171	173					11																	32413578		2202	4299	6501	SO:0001587	stop_gained	7490	Wilms' tumor-Aniridia-ambiguous Genitals-mental Retardation;Frasier syndrome;Familial Wilms' tumor;Denys-Drash syndrome	Familial Cancer Database	WAGR syndrome; ; ;incl.: Early Onset Nephrotic Syndrome-WT1 associated	adrenal cortex formation|branching involved in ureteric bud morphogenesis|camera-type eye development|cardiac muscle cell fate commitment|cellular response to cAMP|cellular response to gonadotropin stimulus|germ cell development|glomerular basement membrane development|glomerular visceral epithelial cell differentiation|induction of apoptosis|male genitalia development|male gonad development|mesenchymal to epithelial transition|metanephric epithelium development|metanephric S-shaped body morphogenesis|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of female gonad development|negative regulation of metanephric glomerular mesangial cell proliferation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|negative regulation of translation|positive regulation of male gonad development|positive regulation of transcription, DNA-dependent|posterior mesonephric tubule development|regulation of organ formation|RNA splicing|sex determination|vasculogenesis|visceral serous pericardium development	cytoplasm|nuclear speck|nucleoplasm	C2H2 zinc finger domain binding|RNA binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr11:32413578G>A		CCDS7878.2, CCDS44561.1, CCDS44562.1, CCDS55750.1, CCDS55751.1	11p13	2014-09-17			ENSG00000184937	ENSG00000184937		"Zinc fingers, C2H2-type"	12796	protein-coding gene	gene with protein product		607102		GUD		14681303	Standard	NM_024424		Approved	WAGR, WIT-2, AWT1	uc001mtn.2	P19544	OTTHUMG00000039556	ENST00000379079.2:c.736C>T	11.37:g.32413578G>A	ENSP00000368370:p.Arg246*					WT1_ENST00000448076.3_Nonsense_Mutation_p.R458*|WT1_ENST00000379079.2_Nonsense_Mutation_p.R246*|WT1_ENST00000530998.1_Nonsense_Mutation_p.R229*	p.R458*	NM_024424.3|NM_024426.4	NP_077742.2|NP_077744.3	P19544	WT1_HUMAN	OV - Ovarian serous cystadenocarcinoma(30;0.128)		9	1656	-	Breast(20;0.247)		390					A8K6S1|B3KSA5|Q15881|Q16256|Q16575|Q4VXV4|Q4VXV5|Q4VXV6|Q8IYZ5	Nonsense_Mutation	SNP	ENST00000379079.2	37	c.1372C>T	CCDS55751.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	40|40	8.146895|8.146895	0.98678|0.98678	.|.	.|.	ENSG00000184937|ENSG00000184937	ENST00000527882|ENST00000379079;ENST00000332351;ENST00000530998;ENST00000452863;ENST00000448076	.|.	.|.	.|.	6.04|6.04	5.07|5.07	0.68467|0.68467	.|.	.|0.000000	.|0.64402	.|U	.|0.000002	T|.	0.34890|.	0.0913|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.26950|.	-1.0088|.	3|.	.|0.02654	.|T	.|1	.|.	13.9745|13.9745	0.64262|0.64262	0.0:0.0:0.7756:0.2244|0.0:0.0:0.7756:0.2244	.|.	.|.	.|.	.|.	V|X	118|246;458;229;441;458	.|.	.|ENSP00000331327:R458X	A|R	-|-	2|1	0|2	WT1|WT1	32370154|32370154	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	4.624000|4.624000	0.61254|0.61254	2.873000|2.873000	0.98535|0.98535	0.561000|0.561000	0.74099|0.74099	GCG|CGA		0.458	WT1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000095434.1	NM_000378		78	79	0	0	0	1	0	78	79					A	32413578	G	A	32413578	4	1	435	1	0	0	0	0	0	1	0	0	17405	1095	38	1	189	1	WT1	11	32413578	Nonsense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	2860	32413578	102592938	5079	26004											
WT1	7490	broad.mit.edu	37	chr11	32417839	32417839	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtgcatctgtaagtgggacaGcttaaaatatctcttattgc	11	14	9	7	0	2	0	0	0	2	0	3	1	2	1	0	1	3	3	0	1	5	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:32417839G>A	ENST00000379079.2	-	7	850	c.577C>T	c.(577-579)Ctg>Ttg	p.L193L	WT1_ENST00000332351.3_Silent_p.L405L|WT1_ENST00000448076.3_Silent_p.L405L|WT1_ENST00000530998.1_Silent_p.L176L	NM_001198551.1	NP_001185480.1	P19544	WT1_HUMAN	Wilms tumor 1	337					adrenal cortex formation (GO:0035802)|adrenal gland development (GO:0030325)|branching involved in ureteric bud morphogenesis (GO:0001658)|camera-type eye development (GO:0043010)|cardiac muscle cell fate commitment (GO:0060923)|cellular response to cAMP (GO:0071320)|cellular response to gonadotropin stimulus (GO:0071371)|diaphragm development (GO:0060539)|epithelial cell differentiation (GO:0030855)|germ cell development (GO:0007281)|glomerular basement membrane development (GO:0032836)|glomerular visceral epithelial cell differentiation (GO:0072112)|glomerulus development (GO:0032835)|gonad development (GO:0008406)|heart development (GO:0007507)|kidney development (GO:0001822)|male genitalia development (GO:0030539)|male gonad development (GO:0008584)|mesenchymal to epithelial transition (GO:0060231)|metanephric epithelium development (GO:0072207)|metanephric mesenchyme development (GO:0072075)|metanephric S-shaped body morphogenesis (GO:0072284)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of female gonad development (GO:2000195)|negative regulation of metanephric glomerular mesangial cell proliferation (GO:0072302)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of translation (GO:0017148)|positive regulation of apoptotic process (GO:0043065)|positive regulation of heart growth (GO:0060421)|positive regulation of male gonad development (GO:2000020)|positive regulation of metanephric ureteric bud development (GO:2001076)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|posterior mesonephric tubule development (GO:0072166)|regulation of organ formation (GO:0003156)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|sex determination (GO:0007530)|thorax and anterior abdomen determination (GO:0007356)|tissue development (GO:0009888)|ureteric bud development (GO:0001657)|vasculogenesis (GO:0001570)|visceral serous pericardium development (GO:0061032)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|RNA binding (GO:0003723)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.L337fs*5(1)	EWSR1/WT1(234)	NS(1)|haematopoietic_and_lymphoid_tissue(348)|kidney(149)|large_intestine(9)|lung(20)|peritoneum(1)|pleura(2)|skin(2)|upper_aerodigestive_tract(1)	533	Breast(20;0.247)		OV - Ovarian serous cystadenocarcinoma(30;0.128)			AAGTGGGACAGCTTAAAATAT	0.527			"D, Mis, N, F, S"	EWSR1	"Wilms, desmoplastic small round cell tumor"	Wilms			Wilms' tumor-Aniridia-ambiguous Genitals-mental Retardation;Frasier syndrome;Familial Wilms' tumor;Denys-Drash syndrome																													ENST00000332351.3			yes	Rec	yes	"Denys-Drash syndrome, Frasier syndrome, Familial Wilms tumor"	11	11p13	7490	"D, Mis, N, F, S"	Wilms tumour 1 gene			O	EWSR1	Wilms	"Wilms, desmoplastic small round cell tumor"	EWSR1/WT1(234)	1	Insertion - Frameshift(1)	p.L337fs*5(1)	haematopoietic_and_lymphoid_tissue(1)	NS(1)|haematopoietic_and_lymphoid_tissue(348)|kidney(149)|large_intestine(9)|lung(20)|peritoneum(1)|pleura(2)|skin(2)|upper_aerodigestive_tract(1)	533						c.(1213-1215)Ctg>Ttg		Wilms tumor 1							143	121	128					11																	32417839		2202	4299	6501	SO:0001819	synonymous_variant	7490	Wilms' tumor-Aniridia-ambiguous Genitals-mental Retardation;Frasier syndrome;Familial Wilms' tumor;Denys-Drash syndrome	Familial Cancer Database	WAGR syndrome; ; ;incl.: Early Onset Nephrotic Syndrome-WT1 associated	adrenal cortex formation|branching involved in ureteric bud morphogenesis|camera-type eye development|cardiac muscle cell fate commitment|cellular response to cAMP|cellular response to gonadotropin stimulus|germ cell development|glomerular basement membrane development|glomerular visceral epithelial cell differentiation|induction of apoptosis|male genitalia development|male gonad development|mesenchymal to epithelial transition|metanephric epithelium development|metanephric S-shaped body morphogenesis|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of female gonad development|negative regulation of metanephric glomerular mesangial cell proliferation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|negative regulation of translation|positive regulation of male gonad development|positive regulation of transcription, DNA-dependent|posterior mesonephric tubule development|regulation of organ formation|RNA splicing|sex determination|vasculogenesis|visceral serous pericardium development	cytoplasm|nuclear speck|nucleoplasm	C2H2 zinc finger domain binding|RNA binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr11:32417839G>A		CCDS7878.2, CCDS44561.1, CCDS44562.1, CCDS55750.1, CCDS55751.1	11p13	2014-09-17			ENSG00000184937	ENSG00000184937		"Zinc fingers, C2H2-type"	12796	protein-coding gene	gene with protein product		607102		GUD		14681303	Standard	NM_024424		Approved	WAGR, WIT-2, AWT1	uc001mtn.2	P19544	OTTHUMG00000039556	ENST00000379079.2:c.577C>T	11.37:g.32417839G>A						WT1_ENST00000448076.3_Silent_p.L405L|WT1_ENST00000379079.2_Silent_p.L193L|WT1_ENST00000530998.1_Silent_p.L176L	p.L405L	NM_024424.3|NM_024426.4	NP_077742.2|NP_077744.3	P19544	WT1_HUMAN	OV - Ovarian serous cystadenocarcinoma(30;0.128)		7	1497	-	Breast(20;0.247)		337		H -> R (in DDS).			A8K6S1|B3KSA5|Q15881|Q16256|Q16575|Q4VXV4|Q4VXV5|Q4VXV6|Q8IYZ5	Silent	SNP	ENST00000379079.2	37	c.1213C>T	CCDS55751.1	.	.	.	.	.	.	.	.	.	.	G	10.44	1.350875	0.24512	.	.	ENSG00000184937	ENST00000527882	.	.	.	6.17	4.31	0.51392	.	.	.	.	.	T	0.63896	0.2550	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.63233	-0.6683	4	.	.	.	.	12.74	0.57246	0.1317:0.0:0.8683:0.0	.	.	.	.	V	95	.	.	A	-	2	0	WT1	32374415	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.660000	0.61511	1.626000	0.50381	0.655000	0.94253	GCT		0.527	WT1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000095434.1	NM_000378		21	32	0	0	0	1	0	21	32					A	32417839	G	A	32417839	2	1	435	1	0	0	0	0	0	0	0	1	17405	962	34	3		3	WT1	11	32417839	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	4261	32417839	102588677	5080	26005											
EIF3M	10480	broad.mit.edu	37	chr11	32610621	32610621	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	agatacacagtgtattgcagCcttattaaagtggcagcatc	13	11	9	8	0	0	1	0	0	0	1	1	1	0	1	1	1	4	4	1	1	5	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:32610621C>T	ENST00000531120.1	+	4	441	c.378C>T	c.(376-378)agC>agT	p.S126S	EIF3M_ENST00000524896.1_Intron	NM_006360.4	NP_006351.2			eukaryotic translation initiation factor 3, subunit M											breast(3)|endometrium(4)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	16	Breast(20;0.109)					TGTATTGCAGCCTTATTAAAG	0.398																																						ENST00000531120.1																			0				breast(3)|endometrium(4)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	16						c.(376-378)agC>agT		eukaryotic translation initiation factor 3, subunit M							118	104	108					11																	32610621		2202	4299	6501	SO:0001819	synonymous_variant	10480					eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity	g.chr11:32610621C>T	AK131064	CCDS7880.1	11p13	2012-12-13	2007-07-27	2007-07-27	ENSG00000149100	ENSG00000149100			24460	protein-coding gene	gene with protein product	"transport and golgi organization 7 homolog (Drosophila)"	609641	"PCI domain containing 1 (herpesvirus entry mediator)"	PCID1		15919898, 15919899	Standard	NM_006360		Approved	hfl-B5, FLJ29030, GA17, eIF3m, TANGO7	uc001mtu.4	Q7L2H7	OTTHUMG00000166258	ENST00000531120.1:c.378C>T	11.37:g.32610621C>T						EIF3M_ENST00000524896.1_Intron	p.S126S	NM_006360.4	NP_006351.2	Q7L2H7	EIF3M_HUMAN			4	441	+	Breast(20;0.109)		126						Silent	SNP	ENST00000531120.1	37	c.378C>T	CCDS7880.1																																																																																				0.398	EIF3M-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388762.2	NM_006360		33	48	0	0	0	1	0	33	48					T	32610621	C	T	32610621	2	4	435	1	0	0	0	0	0	0	0	1	5023	738	26	3		3	EIF3M	11	32610621	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	192782	32610621	102395895	5081	26006											
TCP11L1	55346	broad.mit.edu	37	chr11	33080601	33080601	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atgcagcagtcagttgaataCgaaaggaagaagtttcaaga	17	8	11	5	1	2	3	2	1	0	2	2	5	2	4	0	1	3	4	0	1	6	3	rs77360478	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:33080601C>T	ENST00000334274.4	+	6	1135	c.735C>T	c.(733-735)taC>taT	p.Y245Y	TCP11L1_ENST00000432887.1_Silent_p.Y245Y|TCP11L1_ENST00000531632.2_Silent_p.Y245Y|TCP11L1_ENST00000324357.9_Silent_p.Y24Y	NM_018393.3	NP_060863.3	Q9NUJ3	T11L1_HUMAN	t-complex 11, testis-specific-like 1	245						microtubule (GO:0005874)				kidney(1)|liver(2)|lung(2)|skin(1)	6						CAGTTGAATACGAAAGGAAGA	0.388													C|||	5	0.000998403	0	0	5008	,	,		18548	0.005		0	False		,,,				2504	0					ENST00000334274.4																			0				kidney(1)|liver(2)|lung(2)|skin(1)	6						c.(733-735)taC>taT		t-complex 11, testis-specific-like 1							150	154	153					11																	33080601		2202	4298	6500	SO:0001819	synonymous_variant	55346							g.chr11:33080601C>T	BC041696	CCDS7882.1	11p13	2014-08-12	2012-09-20		ENSG00000176148	ENSG00000176148			25655	protein-coding gene	gene with protein product			"t-complex 11 (mouse) like 1"				Standard	NM_001145541		Approved	FLJ11336	uc010rei.2	Q9NUJ3	OTTHUMG00000165303	ENST00000334274.4:c.735C>T	11.37:g.33080601C>T						TCP11L1_ENST00000432887.1_Silent_p.Y245Y|TCP11L1_ENST00000531632.2_Silent_p.Y245Y|TCP11L1_ENST00000324357.9_Silent_p.Y24Y	p.Y245Y	NM_018393.3	NP_060863.3	Q9NUJ3	T11L1_HUMAN			6	1135	+			245					D3DR01|Q8IVX4	Silent	SNP	ENST00000334274.4	37	c.735C>T	CCDS7882.1																																																																																				0.388	TCP11L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383377.4	NM_018393		35	54	0	0	0	1	0	35	54					T	33080601	C	T	33080601	2	4	435	1	0	0	0	0	0	0	0	1	15711	547	19	1		1	TCP11L1	11	33080601	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	469980	33080601	101925915	5082	26007											
CSTF3	1479	broad.mit.edu	37	chr11	33118431	33118431	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agtaacatagacatggtggcGggttctggtatcttctcttg	8	14	12	7	1	3	1	0	0	3	1	4	1	3	1	0	4	1	3	0	4	3	6			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:33118431G>A	ENST00000323959.4	-	14	1361	c.1222C>T	c.(1222-1224)Cgc>Tgc	p.R408C	TCP11L1_ENST00000324357.9_Intron	NM_001326.2	NP_001317.1	Q12996	CSTF3_HUMAN	cleavage stimulation factor, 3' pre-RNA, subunit 3, 77kDa	408					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA cleavage (GO:0006379)|mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|prostate(1)|skin(1)|stomach(1)	19						ACATGGTGGCGGGTTCTGGTA	0.358																																						ENST00000323959.4																			0				breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|prostate(1)|skin(1)|stomach(1)	19						c.(1222-1224)Cgc>Tgc		cleavage stimulation factor, 3' pre-RNA, subunit 3, 77kDa							153	143	146					11																	33118431		2202	4298	6500	SO:0001583	missense	1479				mRNA cleavage|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nucleoplasm	protein binding|RNA binding	g.chr11:33118431G>A	U15782	CCDS7883.1, CCDS44563.1, CCDS44564.1	11p13	2007-01-05	2002-08-29		ENSG00000176102	ENSG00000176102			2485	protein-coding gene	gene with protein product		600367	"cleavage stimulation factor, 3' pre-RNA, subunit 3, 77kD"			7984242	Standard	XM_006718154		Approved	CstF-77	uc001muh.3	Q12996	OTTHUMG00000166268	ENST00000323959.4:c.1222C>T	11.37:g.33118431G>A	ENSP00000315791:p.Arg408Cys					TCP11L1_ENST00000324357.9_Intron	p.R408C	NM_001326.2	NP_001317.1	Q12996	CSTF3_HUMAN			14	1361	-			408					A8K471|D3DR04|E9PB40|Q32P22|Q96FQ8|Q96QD6|Q96QK4	Missense_Mutation	SNP	ENST00000323959.4	37	c.1222C>T	CCDS7883.1	.	.	.	.	.	.	.	.	.	.	G	28.6	4.937406	0.92458	.	.	ENSG00000176102	ENST00000323959;ENST00000537832	T	0.35236	1.32	5.68	5.68	0.88126	Tetratricopeptide-like helical (1);Suppressor of forked (1);	0.000000	0.85682	D	0.000000	T	0.31482	0.0798	L	0.43152	1.355	0.80722	D	1	P	0.47762	0.9	B	0.33750	0.169	T	0.21895	-1.0232	10	0.56958	D	0.05	.	19.7787	0.96409	0.0:0.0:1.0:0.0	.	408	Q12996	CSTF3_HUMAN	C	408;341	ENSP00000315791:R408C	ENSP00000315791:R408C	R	-	1	0	CSTF3	33075007	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.656000	0.83736	2.689000	0.91719	0.305000	0.20034	CGC		0.358	CSTF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388801.1	NM_001326		35	38	0	0	0	1	0	35	38					A	33118431	G	A	33118431	3	1	435	1	0	0	0	0	1	0	0	0	3986	1116	39	2	963	2	CSTF3	11	33118431	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	37830	33118431	101888085	5083	26008											
C11orf41	25758	broad.mit.edu	37	chr11	33596410	33596410	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttcatcacgttgtccttctgCaagctgaccgtaagggaatg	9	12	10	10	2	3	1	2	1	1	0	4	2	4	2	2	1	2	4	2	1	3	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:33596410C>T	ENST00000321505.4	+	9	3682	c.3502C>T	c.(3502-3504)Caa>Taa	p.Q1168*	KIAA1549L_ENST00000389726.3_Nonsense_Mutation_p.Q1174*|KIAA1549L_ENST00000265654.5_Nonsense_Mutation_p.Q1174*			Q6ZVL6	K154L_HUMAN	KIAA1549-like	1168						integral component of membrane (GO:0016021)											TGTCCTTCTGCAAGCTGACCG	0.438																																						ENST00000321505.4																			0											c.(3502-3504)Caa>Taa		KIAA1549-like							145	138	140					11																	33596410		1995	4178	6173	SO:0001587	stop_gained	25758							g.chr11:33596410C>T	U10991	CCDS44565.1, CCDS44565.2	11p13	2012-08-09	2012-08-09	2012-08-09	ENSG00000110427	ENSG00000110427			24836	protein-coding gene	gene with protein product		612297	"chromosome 11 open reading frame 69", "chromosome 11 open reading frame 41"	C11orf69, C11orf41			Standard	NM_012194		Approved	G2, MGC34830	uc021qfs.1	Q6ZVL6	OTTHUMG00000150410	ENST00000321505.4:c.3502C>T	11.37:g.33596410C>T	ENSP00000315295:p.Gln1168*					KIAA1549L_ENST00000389726.3_Nonsense_Mutation_p.Q1174*|KIAA1549L_ENST00000265654.5_Nonsense_Mutation_p.Q1174*	p.Q1168*							9	3682	+								B0QYU0	Nonsense_Mutation	SNP	ENST00000321505.4	37	c.3502C>T	CCDS44565.2	.	.	.	.	.	.	.	.	.	.	C	45	11.353247	0.99550	.	.	ENSG00000110427	ENST00000321505;ENST00000389726;ENST00000265654;ENST00000536568	.	.	.	5.6	5.6	0.85130	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.42905	T	0.14	-10.3903	19.6091	0.95594	0.0:1.0:0.0:0.0	.	.	.	.	X	1168;1174;1174;1007	.	ENSP00000265654:Q1174X	Q	+	1	0	C11orf41	33552986	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.476000	0.81055	2.650000	0.89964	0.655000	0.94253	CAA		0.438	KIAA1549L-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317998.1	NM_012194		38	62	0	0	0	1	0	38	62					T	33596410	C	T	33596410	4	4	435	1	0	0	0	0	0	1	0	0	1640	711	25	3	3554	3	C11orf41	11	33596410	Nonsense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	477979	33596410	101410106	5084	26009											
CAPRIN1	4076	broad.mit.edu	37	chr11	34107948	34107948	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	acatggacatgccccagctgGtttgccctccaggttagtag	8	10	11	12	0	0	0	0	0	0	0	1	1	1	1	4	3	3	4	4	3	2	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:34107948G>A	ENST00000341394.4	+	11	1408	c.1219G>A	c.(1219-1221)Gtt>Att	p.V407I	CAPRIN1_ENST00000529307.1_Missense_Mutation_p.V326I|CAPRIN1_ENST00000532820.1_Missense_Mutation_p.V407I|CAPRIN1_ENST00000530820.1_Missense_Mutation_p.V407I|CAPRIN1_ENST00000389645.3_Missense_Mutation_p.V407I	NM_005898.4	NP_005889.3	Q14444	CAPR1_HUMAN	cell cycle associated protein 1	407					negative regulation of translation (GO:0017148)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of dendritic spine morphogenesis (GO:0061003)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytoplasmic stress granule (GO:0010494)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)	18		Acute lymphoblastic leukemia(5;0.00045)|all_hematologic(20;0.0016)				GCCCCAGCTGGTTTGCCCTCC	0.378																																						ENST00000341394.4																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)	18						c.(1219-1221)Gtt>Att		cell cycle associated protein 1							78	75	76					11																	34107948		2202	4298	6500	SO:0001583	missense	4076				negative regulation of translation|positive regulation of dendrite morphogenesis|positive regulation of dendritic spine morphogenesis	cytoplasmic mRNA processing body|cytosol|dendrite|integral to plasma membrane|stress granule	protein binding|RNA binding	g.chr11:34107948G>A	BC001731	CCDS31453.1, CCDS31454.1	11p13	2010-08-03	2007-03-27	2007-03-27	ENSG00000135387	ENSG00000135387			6743	protein-coding gene	gene with protein product	"cytoplasmic activation/proliferation-associated protein-1"	601178	"membrane component, chromosome 11, surface marker 1", "GPI-anchored membrane protein 1"	M11S1, GPIAP1		7657653, 16177067, 17210633, 14764709, 15471883	Standard	NM_005898		Approved	caprin-1, RNG105	uc001mvh.1	Q14444	OTTHUMG00000166248	ENST00000341394.4:c.1219G>A	11.37:g.34107948G>A	ENSP00000340329:p.Val407Ile					CAPRIN1_ENST00000530820.1_Missense_Mutation_p.V407I|CAPRIN1_ENST00000529307.1_Missense_Mutation_p.V326I|CAPRIN1_ENST00000532820.1_Missense_Mutation_p.V407I|CAPRIN1_ENST00000389645.3_Missense_Mutation_p.V407I	p.V407I	NM_005898.4	NP_005889.3	Q14444	CAPR1_HUMAN			11	1408	+		Acute lymphoblastic leukemia(5;0.00045)|all_hematologic(20;0.0016)	407					A6NMY7|D3DR06|Q15074|Q6IMN4|Q6IMN7|Q9BV09	Missense_Mutation	SNP	ENST00000341394.4	37	c.1219G>A	CCDS31453.1	.	.	.	.	.	.	.	.	.	.	G	16.78	3.219069	0.58560	.	.	ENSG00000135387	ENST00000341394;ENST00000389645;ENST00000532820;ENST00000530820;ENST00000529307	T;T;T;T;T	0.27402	1.67;1.67;1.67;1.67;1.67	6.03	6.03	0.97812	.	0.054806	0.64402	D	0.000001	T	0.37433	0.1003	M	0.66939	2.045	0.44595	D	0.997564	P;B	0.34462	0.454;0.4	B;B	0.38156	0.266;0.173	T	0.06320	-1.0833	10	0.32370	T	0.25	-6.9056	15.3096	0.74019	0.0:0.0:0.8601:0.1398	.	407;407	Q14444;Q14444-2	CAPR1_HUMAN;.	I	407;407;407;407;326	ENSP00000340329:V407I;ENSP00000374296:V407I;ENSP00000434150:V407I;ENSP00000434204:V407I;ENSP00000431581:V326I	ENSP00000340329:V407I	V	+	1	0	CAPRIN1	34064524	1.000000	0.71417	1.000000	0.80357	0.912000	0.54170	7.500000	0.81588	2.868000	0.98415	0.557000	0.71058	GTT		0.378	CAPRIN1-001	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000388680.2	NM_005898		16	22	0	0	0	1	0	16	22					A	34107948	G	A	34107948	3	1	435	1	0	0	0	0	1	0	0	0	2635	1261	44	3	1257	3	CAPRIN1	11	34107948	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	511538	34107948	100898568	5085	26010											
EHF	26298	broad.mit.edu	37	chr11	34680239	34680239	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gggtaaaaagaagaacaacaGcagcatgacctatgaaaagc	20	4	10	7	0	0	4	0	2	0	2	0	4	0	4	1	1	5	3	1	1	9	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:34680239G>T	ENST00000533754.1	+	8	984	c.767G>T	c.(766-768)aGc>aTc	p.S256I	EHF_ENST00000450654.2_Missense_Mutation_p.S233I|EHF_ENST00000530286.1_Missense_Mutation_p.S256I|EHF_ENST00000531794.1_Missense_Mutation_p.S278I|EHF_ENST00000257831.3_Missense_Mutation_p.S256I					ets homologous factor										NFIA/EHF(2)	autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(3)|lung(8)|upper_aerodigestive_tract(1)	17		all_hematologic(20;0.117)	Epithelial(1;0.055)|all cancers(1;0.137)|STAD - Stomach adenocarcinoma(6;0.235)			AAGAACAACAGCAGCATGACC	0.448																																						ENST00000257831.3																		NFIA/EHF(2)	0				autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(3)|lung(8)|upper_aerodigestive_tract(1)	17						c.(766-768)aGc>aTc		ets homologous factor							89	94	92					11																	34680239		2202	4298	6500	SO:0001583	missense	26298				cell proliferation|epithelial cell differentiation|multicellular organismal development|positive regulation of transcription, DNA-dependent		protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr11:34680239G>T	AF170583	CCDS7894.1, CCDS55752.1, CCDS55753.1	11p12	2008-07-18				ENSG00000135373			3246	protein-coding gene	gene with protein product	"epithelium-specific ets factor 3", "ESE3 transcription factor"	605439				10527851	Standard	NM_012153		Approved	ESE3, ESEJ	uc021qfu.1	Q9NZC4		ENST00000533754.1:c.767G>T	11.37:g.34680239G>T	ENSP00000435837:p.Ser256Ile					EHF_ENST00000533754.1_Missense_Mutation_p.S256I|EHF_ENST00000530286.1_Missense_Mutation_p.S256I|EHF_ENST00000450654.2_Missense_Mutation_p.S233I|EHF_ENST00000531794.1_Missense_Mutation_p.S278I	p.S256I	NM_012153.5	NP_036285.2	Q9NZC4	EHF_HUMAN	Epithelial(1;0.055)|all cancers(1;0.137)|STAD - Stomach adenocarcinoma(6;0.235)		8	888	+		all_hematologic(20;0.117)	256						Missense_Mutation	SNP	ENST00000533754.1	37	c.767G>T	CCDS7894.1	.	.	.	.	.	.	.	.	.	.	G	18.29	3.591182	0.66219	.	.	ENSG00000135373	ENST00000257831;ENST00000450654;ENST00000530286;ENST00000533754;ENST00000531794	T;T;T;T;T	0.14144	2.53;2.53;2.53;2.53;2.53	5.7	4.77	0.60923	Winged helix-turn-helix transcription repressor DNA-binding (1);Ets (4);	0.069044	0.85682	D	0.000000	T	0.30293	0.0760	L	0.47716	1.5	0.80722	D	1	P;D;P	0.71674	0.933;0.998;0.6	P;D;P	0.76575	0.799;0.988;0.551	T	0.02093	-1.1215	10	0.72032	D	0.01	.	13.8511	0.63496	0.0759:0.0:0.9241:0.0	.	278;233;256	E9PSB2;Q9NZC4-2;Q9NZC4	.;.;EHF_HUMAN	I	256;233;256;256;278	ENSP00000257831:S256I;ENSP00000399733:S233I;ENSP00000433508:S256I;ENSP00000435837:S256I;ENSP00000435835:S278I	ENSP00000257831:S256I	S	+	2	0	EHF	34636815	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.789000	0.62446	1.350000	0.45770	0.561000	0.74099	AGC		0.448	EHF-003	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000389855.1	NM_012153		13	31	1	0	1.5842e-08	1	1.67426e-08	13	31					T	34680239	G	T	34680239	3	4	435	1	0	0	0	0	1	0	0	0	4981	971	34	5	793	5	EHF	11	34680239	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	572291	34680239	100326277	5086	26011											
PAMR1	25891	broad.mit.edu	37	chr11	35463154	35463154	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggtgccaattttagcatggCgtccgttgataagcccaggg	8	10	13	10	3	0	1	0	1	0	0	1	1	1	1	3	3	3	2	3	3	3	4	rs371928843		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:35463154C>T	ENST00000378880.2	-	7	1353	c.908G>A	c.(907-909)cGc>cAc	p.R303H	PAMR1_ENST00000278360.3_Missense_Mutation_p.R320H|PAMR1_ENST00000378878.3_Missense_Mutation_p.R192H|PAMR1_ENST00000532848.1_Missense_Mutation_p.R263H	NM_001001991.1	NP_001001991.1	Q6UXH9	PAMR1_HUMAN	peptidase domain containing associated with muscle regeneration 1	303	Sushi 1. {ECO:0000255|PROSITE- ProRule:PRU00302}.					extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	26						TTTAGCATGGCGTCCGTTGAT	0.468																																						ENST00000378880.2																			0				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	26						c.(907-909)cGc>cAc		peptidase domain containing associated with muscle regeneration 1		C	HIS/ARG,HIS/ARG	0,4404		0,0,2202	112	112	112		908,959	-0.6	0	11		112	1,8595	1.2+/-3.3	0,1,4297	no	missense,missense	PAMR1	NM_001001991.1,NM_015430.2	29,29	0,1,6499	TT,TC,CC		0.0116,0.0,0.0077	benign,benign	303/721,320/738	35463154	1,12999	2202	4298	6500	SO:0001583	missense	25891				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr11:35463154C>T		CCDS7898.1, CCDS31460.1, CCDS60759.1, CCDS60760.1	11p13	2009-09-30			ENSG00000149090	ENSG00000149090			24554	protein-coding gene	gene with protein product	"regeneration-associated muscle protease"					15111323	Standard	NM_001282675		Approved	RAMP, DKFZP586H2123	uc001mwf.3	Q6UXH9	OTTHUMG00000166328	ENST00000378880.2:c.908G>A	11.37:g.35463154C>T	ENSP00000368158:p.Arg303His					PAMR1_ENST00000378878.3_Missense_Mutation_p.R192H|PAMR1_ENST00000278360.3_Missense_Mutation_p.R320H|PAMR1_ENST00000532848.1_Missense_Mutation_p.R263H	p.R303H	NM_001001991.1	NP_001001991.1	Q6UXH9	PAMR1_HUMAN			7	1353	-			303			Sushi 1.		A8MQ58|B7ZA73|Q5EBL7|Q5JPI4|Q6N062|Q71RE9|Q96JW2|Q9Y432	Missense_Mutation	SNP	ENST00000378880.2	37	c.908G>A	CCDS31460.1	.	.	.	.	.	.	.	.	.	.	C	0.158	-1.084104	0.01888	0.0	1.16E-4	ENSG00000149090	ENST00000278360;ENST00000378880;ENST00000378878;ENST00000532848;ENST00000527605	T;T;T;T;T	0.64618	-0.11;-0.11;-0.11;-0.11;-0.11	5.74	-0.611	0.11601	Complement control module (2);Sushi/SCR/CCP (3);	0.485871	0.25935	N	0.027357	T	0.51261	0.1664	L	0.48877	1.53	0.09310	N	1	B;B;B	0.18610	0.029;0.001;0.001	B;B;B	0.14578	0.011;0.003;0.002	T	0.48714	-0.9011	10	0.87932	D	0	.	11.2278	0.48895	0.0:0.4659:0.0:0.5341	.	192;303;320	A8MQ58;Q6UXH9;Q6UXH9-2	.;PAMR1_HUMAN;.	H	320;303;192;263;280	ENSP00000278360:R320H;ENSP00000368158:R303H;ENSP00000368156:R192H;ENSP00000433868:R263H;ENSP00000432591:R280H	ENSP00000278360:R320H	R	-	2	0	PAMR1	35419730	0.000000	0.05858	0.002000	0.10522	0.000000	0.00434	-1.637000	0.02015	-0.385000	0.07833	-1.933000	0.00509	CGC		0.468	PAMR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389177.1	NM_015430		44	88	0	0	0	1	0	44	88					T	35463154	C	T	35463154	3	4	435	1	0	0	0	0	1	0	0	0	11413	768	27	1	1274	1	PAMR1	11	35463154	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	782915	35463154	99543362	5087	26012											
PRR5L	79899	broad.mit.edu	37	chr11	36467868	36467868	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agggccaggagctgactatcCgccagatctccctgctgggc	7	7	13	14	1	1	2	0	1	1	1	3	3	2	3	4	3	2	2	4	3	1	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:36467868C>T	ENST00000378867.3	+	8	818	c.463C>T	c.(463-465)Cgc>Tgc	p.R155C	PRR5L_ENST00000311599.5_Intron|PRR5L_ENST00000527487.1_Missense_Mutation_p.R155C|PRR5L_ENST00000389693.3_Intron|PRR5L_ENST00000530639.1_Missense_Mutation_p.R155C	NM_024841.4	NP_079117.3	Q6MZQ0	PRR5L_HUMAN	proline rich 5 like	155					negative regulation of protein phosphorylation (GO:0001933)|negative regulation of signal transduction (GO:0009968)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein phosphorylation (GO:0001934)|regulation of fibroblast migration (GO:0010762)|TORC2 signaling (GO:0038203)	mitochondrion (GO:0005739)|TORC2 complex (GO:0031932)	ubiquitin protein ligase binding (GO:0031625)			breast(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(7)|ovary(1)	19						GCTGACTATCCGCCAGATCTC	0.597																																						ENST00000378867.3																			0				breast(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(7)|ovary(1)	19						c.(463-465)Cgc>Tgc		proline rich 5 like							57	51	53					11																	36467868		2202	4298	6500	SO:0001583	missense	79899							g.chr11:36467868C>T		CCDS31463.1, CCDS53617.1	11p13-p12	2009-07-09				ENSG00000135362			25878	protein-coding gene	gene with protein product	"protein observed with Rictor-2"	611728				17461779	Standard	NM_024841		Approved	FLJ14213, PROTOR-2	uc001mwp.3	Q6MZQ0		ENST00000378867.3:c.463C>T	11.37:g.36467868C>T	ENSP00000368144:p.Arg155Cys					PRR5L_ENST00000527487.1_Missense_Mutation_p.R155C|PRR5L_ENST00000311599.5_Intron|PRR5L_ENST00000389693.3_Intron|PRR5L_ENST00000530639.1_Missense_Mutation_p.R155C	p.R155C	NM_024841.4	NP_079117.3	Q6MZQ0	PRR5L_HUMAN			8	818	+			155					A4QN22|E9PKY1|Q96H46|Q9H7V4	Missense_Mutation	SNP	ENST00000378867.3	37	c.463C>T	CCDS31463.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.189887	0.78789	.	.	ENSG00000135362	ENST00000530639;ENST00000378867;ENST00000527487	T;T;T	0.77358	1.01;1.01;-1.09	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	D	0.88444	0.6438	M	0.75777	2.31	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.89155	0.3526	10	0.87932	D	0	-25.8969	19.1621	0.93537	0.0:1.0:0.0:0.0	.	155;155	E9PKY1;Q6MZQ0	.;PRR5L_HUMAN	C	155	ENSP00000435050:R155C;ENSP00000368144:R155C;ENSP00000435241:R155C	ENSP00000368144:R155C	R	+	1	0	PRR5L	36424444	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.548000	0.53670	2.649000	0.89929	0.561000	0.74099	CGC		0.597	PRR5L-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389209.1	NM_024841		7	17	0	0	0	1	0	7	17					T	36467868	C	T	36467868	3	4	435	1	0	0	0	0	1	0	0	0	12602	652	23	2	491	2	PRR5L	11	36467868	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	1004714	36467868	98538648	5088	26013											
PRR5L	79899	broad.mit.edu	37	chr11	36472798	36472798	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcccaagtgagagttatttgCaactggaggagctggtgaag	11	9	15	6	0	0	2	0	2	0	1	0	5	0	4	1	3	3	3	1	3	4	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:36472798C>T	ENST00000378867.3	+	9	980	c.625C>T	c.(625-627)Caa>Taa	p.Q209*	PRR5L_ENST00000311599.5_Nonsense_Mutation_p.Q136*|PRR5L_ENST00000527487.1_Intron|PRR5L_ENST00000389693.3_3'UTR|PRR5L_ENST00000530639.1_Nonsense_Mutation_p.Q209*	NM_024841.4	NP_079117.3	Q6MZQ0	PRR5L_HUMAN	proline rich 5 like	209					negative regulation of protein phosphorylation (GO:0001933)|negative regulation of signal transduction (GO:0009968)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein phosphorylation (GO:0001934)|regulation of fibroblast migration (GO:0010762)|TORC2 signaling (GO:0038203)	mitochondrion (GO:0005739)|TORC2 complex (GO:0031932)	ubiquitin protein ligase binding (GO:0031625)			breast(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(7)|ovary(1)	19						GAGTTATTTGCAACTGGAGGA	0.537																																						ENST00000378867.3																			0				breast(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(7)|ovary(1)	19						c.(625-627)Caa>Taa		proline rich 5 like							181	158	166					11																	36472798		2202	4298	6500	SO:0001587	stop_gained	79899							g.chr11:36472798C>T		CCDS31463.1, CCDS53617.1	11p13-p12	2009-07-09				ENSG00000135362			25878	protein-coding gene	gene with protein product	"protein observed with Rictor-2"	611728				17461779	Standard	NM_024841		Approved	FLJ14213, PROTOR-2	uc001mwp.3	Q6MZQ0		ENST00000378867.3:c.625C>T	11.37:g.36472798C>T	ENSP00000368144:p.Gln209*					PRR5L_ENST00000527487.1_Intron|PRR5L_ENST00000311599.5_Nonsense_Mutation_p.Q136*|PRR5L_ENST00000389693.3_3'UTR|PRR5L_ENST00000530639.1_Nonsense_Mutation_p.Q209*	p.Q209*	NM_024841.4	NP_079117.3	Q6MZQ0	PRR5L_HUMAN			9	980	+			209					A4QN22|E9PKY1|Q96H46|Q9H7V4	Nonsense_Mutation	SNP	ENST00000378867.3	37	c.625C>T	CCDS31463.1	.	.	.	.	.	.	.	.	.	.	C	38	6.942154	0.97952	.	.	ENSG00000135362	ENST00000530639;ENST00000311599;ENST00000378867	.	.	.	5.16	5.16	0.70880	.	0.140339	0.49305	D	0.000155	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.21014	T	0.42	-36.826	13.2375	0.59976	0.1591:0.8409:0.0:0.0	.	.	.	.	X	209;136;209	.	ENSP00000310103:Q136X	Q	+	1	0	PRR5L	36429374	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	2.155000	0.42301	2.417000	0.82017	0.313000	0.20887	CAA		0.537	PRR5L-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389209.1	NM_024841		32	39	0	0	0	1	0	32	39					T	36472798	C	T	36472798	4	4	435	1	0	0	0	0	0	1	0	0	12602	711	25	3	657	3	PRR5L	11	36472798	Nonsense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	4930	36472798	98533718	5089	26014											
TRAF6	7189	broad.mit.edu	37	chr11	36511471	36511471	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcgggtggagacctcacagcGcactaataatgtgtcatcct	10	9	11	11	2	2	1	2	0	0	1	3	2	3	1	2	2	1	1	2	2	2	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:36511471G>A	ENST00000526995.1	-	7	1732	c.1486C>T	c.(1486-1488)Cgc>Tgc	p.R496C	TRAF6_ENST00000529150.1_5'Flank|TRAF6_ENST00000348124.5_Missense_Mutation_p.R496C	NM_004620.3	NP_004611.1	Q9Y4K3	TRAF6_HUMAN	TNF receptor-associated factor 6, E3 ubiquitin protein ligase	496	MATH. {ECO:0000255|PROSITE- ProRule:PRU00129}.				activation of MAPK activity (GO:0000187)|activation of NF-kappaB-inducing kinase activity (GO:0007250)|activation of protein kinase activity (GO:0032147)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|apoptotic signaling pathway (GO:0097190)|bone resorption (GO:0045453)|cell development (GO:0048468)|cellular response to lipopolysaccharide (GO:0071222)|Fc-epsilon receptor signaling pathway (GO:0038095)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|interleukin-1-mediated signaling pathway (GO:0070498)|JNK cascade (GO:0007254)|membrane protein intracellular domain proteolysis (GO:0031293)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|odontogenesis of dentin-containing tooth (GO:0042475)|ossification (GO:0001503)|osteoclast differentiation (GO:0030316)|positive regulation of apoptotic process (GO:0043065)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-12 biosynthetic process (GO:0045084)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of interleukin-6 biosynthetic process (GO:0045410)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of lipopolysaccharide-mediated signaling pathway (GO:0031666)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell cytokine production (GO:0002726)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription regulatory region DNA binding (GO:2000679)|protein autoubiquitination (GO:0051865)|protein complex assembly (GO:0006461)|protein K63-linked ubiquitination (GO:0070534)|protein polyubiquitination (GO:0000209)|regulation of immunoglobulin secretion (GO:0051023)|response to interleukin-1 (GO:0070555)|stress-activated MAPK cascade (GO:0051403)|T cell receptor signaling pathway (GO:0050852)|T-helper 1 type immune response (GO:0042088)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	CD40 receptor complex (GO:0035631)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|endosome membrane (GO:0010008)|lipid particle (GO:0005811)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	histone deacetylase binding (GO:0042826)|ligase activity (GO:0016874)|mitogen-activated protein kinase kinase kinase binding (GO:0031435)|protein kinase B binding (GO:0043422)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|signal transducer activity (GO:0004871)|thioesterase binding (GO:0031996)|tumor necrosis factor receptor binding (GO:0005164)|ubiquitin conjugating enzyme binding (GO:0031624)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(13)|ovary(2)|pancreas(1)	27	all_lung(20;0.211)	all_hematologic(20;0.107)				ACCTCACAGCGCACTAATAAT	0.483																																						ENST00000526995.1																			0				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(13)|ovary(2)|pancreas(1)	27						c.(1486-1488)Cgc>Tgc		TNF receptor-associated factor 6, E3 ubiquitin protein ligase							138	134	135					11																	36511471		2202	4298	6500	SO:0001583	missense	7189				activation of MAPK activity|activation of NF-kappaB-inducing kinase activity|anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|membrane protein intracellular domain proteolysis|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|ossification|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-2 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of osteoclast differentiation|positive regulation of T cell cytokine production|protein autoubiquitination|protein K63-linked ubiquitination|response to interleukin-1|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	CD40 receptor complex|cell cortex|cytosol|endosome membrane|internal side of plasma membrane|nuclear membrane	histone deacetylase binding|mitogen-activated protein kinase kinase kinase binding|protein kinase B binding|protein N-terminus binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr11:36511471G>A		CCDS7901.1	11p12	2013-01-09	2012-02-23		ENSG00000175104	ENSG00000175104		"RING-type (C3HC4) zinc fingers"	12036	protein-coding gene	gene with protein product		602355	"TNF receptor-associated factor 6"			8837778	Standard	NM_004620		Approved	RNF85	uc001mws.2	Q9Y4K3	OTTHUMG00000166391	ENST00000526995.1:c.1486C>T	11.37:g.36511471G>A	ENSP00000433623:p.Arg496Cys					TRAF6_ENST00000348124.5_Missense_Mutation_p.R496C	p.R496C	NM_004620.3	NP_004611.1	Q9Y4K3	TRAF6_HUMAN			7	1732	-	all_lung(20;0.211)	all_hematologic(20;0.107)	496			MATH.		A6NKI7|A8KAB3|D3DR16|Q8NEH5	Missense_Mutation	SNP	ENST00000526995.1	37	c.1486C>T	CCDS7901.1	.	.	.	.	.	.	.	.	.	.	G	26.9	4.782826	0.90282	.	.	ENSG00000175104	ENST00000526995;ENST00000348124	T;T	0.45668	0.89;0.89	5.46	5.46	0.80206	TRAF-type (1);TRAF-like (1);MATH (2);	0.000000	0.85682	D	0.000000	T	0.71358	0.3330	M	0.86420	2.815	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.76005	-0.3117	10	0.87932	D	0	-26.7874	19.6799	0.95958	0.0:0.0:1.0:0.0	.	496	Q9Y4K3	TRAF6_HUMAN	C	496	ENSP00000433623:R496C;ENSP00000337853:R496C	ENSP00000337853:R496C	R	-	1	0	TRAF6	36468047	1.000000	0.71417	0.997000	0.53966	0.975000	0.68041	9.813000	0.99286	2.739000	0.93911	0.555000	0.69702	CGC		0.483	TRAF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389530.1	NM_145803		35	48	0	0	0	1	0	35	48					A	36511471	G	A	36511471	3	1	435	1	0	0	0	0	1	0	0	0	16442	1087	38	1	86	1	TRAF6	11	36511471	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	38673	36511471	98495045	5090	26015											
TRAF6	7189	broad.mit.edu	37	chr11	36511685	36511685	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cgtattgtaccctggaagggCcaagggaggtggctgtcata	9	9	15	8	1	1	0	1	0	0	0	1	2	1	2	2	5	1	3	2	5	5	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:36511685C>T	ENST00000526995.1	-	7	1518	c.1272G>A	c.(1270-1272)tgG>tgA	p.W424*	TRAF6_ENST00000529150.1_5'Flank|TRAF6_ENST00000348124.5_Nonsense_Mutation_p.W424*	NM_004620.3	NP_004611.1	Q9Y4K3	TRAF6_HUMAN	TNF receptor-associated factor 6, E3 ubiquitin protein ligase	424	MATH. {ECO:0000255|PROSITE- ProRule:PRU00129}.				activation of MAPK activity (GO:0000187)|activation of NF-kappaB-inducing kinase activity (GO:0007250)|activation of protein kinase activity (GO:0032147)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|apoptotic signaling pathway (GO:0097190)|bone resorption (GO:0045453)|cell development (GO:0048468)|cellular response to lipopolysaccharide (GO:0071222)|Fc-epsilon receptor signaling pathway (GO:0038095)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|interleukin-1-mediated signaling pathway (GO:0070498)|JNK cascade (GO:0007254)|membrane protein intracellular domain proteolysis (GO:0031293)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|odontogenesis of dentin-containing tooth (GO:0042475)|ossification (GO:0001503)|osteoclast differentiation (GO:0030316)|positive regulation of apoptotic process (GO:0043065)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-12 biosynthetic process (GO:0045084)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of interleukin-6 biosynthetic process (GO:0045410)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of lipopolysaccharide-mediated signaling pathway (GO:0031666)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell cytokine production (GO:0002726)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription regulatory region DNA binding (GO:2000679)|protein autoubiquitination (GO:0051865)|protein complex assembly (GO:0006461)|protein K63-linked ubiquitination (GO:0070534)|protein polyubiquitination (GO:0000209)|regulation of immunoglobulin secretion (GO:0051023)|response to interleukin-1 (GO:0070555)|stress-activated MAPK cascade (GO:0051403)|T cell receptor signaling pathway (GO:0050852)|T-helper 1 type immune response (GO:0042088)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	CD40 receptor complex (GO:0035631)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|endosome membrane (GO:0010008)|lipid particle (GO:0005811)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	histone deacetylase binding (GO:0042826)|ligase activity (GO:0016874)|mitogen-activated protein kinase kinase kinase binding (GO:0031435)|protein kinase B binding (GO:0043422)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|signal transducer activity (GO:0004871)|thioesterase binding (GO:0031996)|tumor necrosis factor receptor binding (GO:0005164)|ubiquitin conjugating enzyme binding (GO:0031624)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(13)|ovary(2)|pancreas(1)	27	all_lung(20;0.211)	all_hematologic(20;0.107)				CCTGGAAGGGCCAAGGGAGGT	0.483																																						ENST00000526995.1																			0				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(13)|ovary(2)|pancreas(1)	27						c.(1270-1272)tgG>tgA		TNF receptor-associated factor 6, E3 ubiquitin protein ligase							95	90	92					11																	36511685		2202	4298	6500	SO:0001587	stop_gained	7189				activation of MAPK activity|activation of NF-kappaB-inducing kinase activity|anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|membrane protein intracellular domain proteolysis|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|ossification|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-2 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of osteoclast differentiation|positive regulation of T cell cytokine production|protein autoubiquitination|protein K63-linked ubiquitination|response to interleukin-1|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	CD40 receptor complex|cell cortex|cytosol|endosome membrane|internal side of plasma membrane|nuclear membrane	histone deacetylase binding|mitogen-activated protein kinase kinase kinase binding|protein kinase B binding|protein N-terminus binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr11:36511685C>T		CCDS7901.1	11p12	2013-01-09	2012-02-23		ENSG00000175104	ENSG00000175104		"RING-type (C3HC4) zinc fingers"	12036	protein-coding gene	gene with protein product		602355	"TNF receptor-associated factor 6"			8837778	Standard	NM_004620		Approved	RNF85	uc001mws.2	Q9Y4K3	OTTHUMG00000166391	ENST00000526995.1:c.1272G>A	11.37:g.36511685C>T	ENSP00000433623:p.Trp424*					TRAF6_ENST00000348124.5_Nonsense_Mutation_p.W424*	p.W424*	NM_004620.3	NP_004611.1	Q9Y4K3	TRAF6_HUMAN			7	1518	-	all_lung(20;0.211)	all_hematologic(20;0.107)	424			MATH.		A6NKI7|A8KAB3|D3DR16|Q8NEH5	Nonsense_Mutation	SNP	ENST00000526995.1	37	c.1272G>A	CCDS7901.1	.	.	.	.	.	.	.	.	.	.	C	39	7.599311	0.98381	.	.	ENSG00000175104	ENST00000526995;ENST00000348124	.	.	.	5.35	5.35	0.76521	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-16.8205	19.4287	0.94755	0.0:1.0:0.0:0.0	.	.	.	.	X	424	.	ENSP00000337853:W424X	W	-	3	0	TRAF6	36468261	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.772000	0.85439	2.668000	0.90789	0.555000	0.69702	TGG		0.483	TRAF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389530.1	NM_145803		30	18	0	0	0	1	0	30	18					T	36511685	C	T	36511685	4	4	435	1	0	0	0	0	0	1	0	0	16442	740	26	3	300	3	TRAF6	11	36511685	Nonsense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	214	36511685	98494831	5091	26016											
TRAF6	7189	broad.mit.edu	37	chr11	36516553	36516553	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgatgagtatagtattgcaGtattcacagatgacatttgc	12	14	9	6	0	1	4	1	3	0	1	1	4	1	4	0	0	2	4	0	0	4	7			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:36516553G>A	ENST00000526995.1	-	5	897	c.651C>T	c.(649-651)taC>taT	p.Y217Y	TRAF6_ENST00000529150.1_5'UTR|TRAF6_ENST00000348124.5_Silent_p.Y217Y	NM_004620.3	NP_004611.1	Q9Y4K3	TRAF6_HUMAN	TNF receptor-associated factor 6, E3 ubiquitin protein ligase	217	Interaction with TAX1BP1.				activation of MAPK activity (GO:0000187)|activation of NF-kappaB-inducing kinase activity (GO:0007250)|activation of protein kinase activity (GO:0032147)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|apoptotic signaling pathway (GO:0097190)|bone resorption (GO:0045453)|cell development (GO:0048468)|cellular response to lipopolysaccharide (GO:0071222)|Fc-epsilon receptor signaling pathway (GO:0038095)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|interleukin-1-mediated signaling pathway (GO:0070498)|JNK cascade (GO:0007254)|membrane protein intracellular domain proteolysis (GO:0031293)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|odontogenesis of dentin-containing tooth (GO:0042475)|ossification (GO:0001503)|osteoclast differentiation (GO:0030316)|positive regulation of apoptotic process (GO:0043065)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-12 biosynthetic process (GO:0045084)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of interleukin-6 biosynthetic process (GO:0045410)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of lipopolysaccharide-mediated signaling pathway (GO:0031666)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell cytokine production (GO:0002726)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription regulatory region DNA binding (GO:2000679)|protein autoubiquitination (GO:0051865)|protein complex assembly (GO:0006461)|protein K63-linked ubiquitination (GO:0070534)|protein polyubiquitination (GO:0000209)|regulation of immunoglobulin secretion (GO:0051023)|response to interleukin-1 (GO:0070555)|stress-activated MAPK cascade (GO:0051403)|T cell receptor signaling pathway (GO:0050852)|T-helper 1 type immune response (GO:0042088)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	CD40 receptor complex (GO:0035631)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|endosome membrane (GO:0010008)|lipid particle (GO:0005811)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	histone deacetylase binding (GO:0042826)|ligase activity (GO:0016874)|mitogen-activated protein kinase kinase kinase binding (GO:0031435)|protein kinase B binding (GO:0043422)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|signal transducer activity (GO:0004871)|thioesterase binding (GO:0031996)|tumor necrosis factor receptor binding (GO:0005164)|ubiquitin conjugating enzyme binding (GO:0031624)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(13)|ovary(2)|pancreas(1)	27	all_lung(20;0.211)	all_hematologic(20;0.107)				TAGTATTGCAGTATTCACAGA	0.269																																						ENST00000526995.1																			0				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(13)|ovary(2)|pancreas(1)	27						c.(649-651)taC>taT		TNF receptor-associated factor 6, E3 ubiquitin protein ligase							62	68	66					11																	36516553		2201	4285	6486	SO:0001819	synonymous_variant	7189				activation of MAPK activity|activation of NF-kappaB-inducing kinase activity|anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|membrane protein intracellular domain proteolysis|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|ossification|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-2 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of osteoclast differentiation|positive regulation of T cell cytokine production|protein autoubiquitination|protein K63-linked ubiquitination|response to interleukin-1|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	CD40 receptor complex|cell cortex|cytosol|endosome membrane|internal side of plasma membrane|nuclear membrane	histone deacetylase binding|mitogen-activated protein kinase kinase kinase binding|protein kinase B binding|protein N-terminus binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr11:36516553G>A		CCDS7901.1	11p12	2013-01-09	2012-02-23		ENSG00000175104	ENSG00000175104		"RING-type (C3HC4) zinc fingers"	12036	protein-coding gene	gene with protein product		602355	"TNF receptor-associated factor 6"			8837778	Standard	NM_004620		Approved	RNF85	uc001mws.2	Q9Y4K3	OTTHUMG00000166391	ENST00000526995.1:c.651C>T	11.37:g.36516553G>A						TRAF6_ENST00000348124.5_Silent_p.Y217Y|TRAF6_ENST00000529150.1_5'UTR	p.Y217Y	NM_004620.3	NP_004611.1	Q9Y4K3	TRAF6_HUMAN			5	897	-	all_lung(20;0.211)	all_hematologic(20;0.107)	217			Interaction with TAX1BP1.		A6NKI7|A8KAB3|D3DR16|Q8NEH5	Silent	SNP	ENST00000526995.1	37	c.651C>T	CCDS7901.1																																																																																				0.269	TRAF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389530.1	NM_145803		27	28	0	0	0	1	0	27	28					A	36516553	G	A	36516553	2	1	435	1	0	0	0	0	0	0	0	1	16442	1024	36	3		3	TRAF6	11	36516553	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	4868	36516553	98489963	5092	26017											
RAG1	5896	broad.mit.edu	37	chr11	36595189	36595189	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caaccttcgacatctctgccGcatctgtgggaattctttta	8	14	7	12	2	3	0	0	0	3	0	5	2	3	1	2	1	2	1	2	1	3	4	rs4151026		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:36595189G>A	ENST00000299440.5	+	2	447	c.335G>A	c.(334-336)cGc>cAc	p.R112H		NM_000448.2	NP_000439	P15918	RAG1_HUMAN	recombination activating gene 1	112	Interaction with importin alpha-1.				adaptive immune response (GO:0002250)|B cell differentiation (GO:0030183)|DNA recombination (GO:0006310)|histone monoubiquitination (GO:0010390)|immune response (GO:0006955)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of thymocyte apoptotic process (GO:0070244)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|pre-B cell allelic exclusion (GO:0002331)|protein autoubiquitination (GO:0051865)|regulation of T cell differentiation (GO:0045580)|T cell differentiation in thymus (GO:0033077)|T cell homeostasis (GO:0043029)|thymus development (GO:0048538)|V(D)J recombination (GO:0033151)	nucleus (GO:0005634)	acid-amino acid ligase activity (GO:0016881)|DNA binding (GO:0003677)|endonuclease activity (GO:0004519)|histone binding (GO:0042393)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding (GO:0043565)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.R112L(1)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	65	all_lung(20;0.226)	all_hematologic(20;0.107)				CATCTCTGCCGCATCTGTGGG	0.453									Familial Hemophagocytic Lymphohistiocytosis																												Pancreas(43;321 1249 3212 48200)|Esophageal Squamous(38;49 1003 17530 24363)	ENST00000299440.5																			1	Substitution - Missense(1)	p.R112L(1)	lung(1)	NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	65						c.(334-336)cGc>cAc		recombination activating gene 1							111	106	107					11																	36595189		2202	4298	6500	SO:0001583	missense	5896	Familial Hemophagocytic Lymphohistiocytosis	Familial Cancer Database	FHLH, FHL, Familial Hemophagocytic Reticulosis, FHR	histone monoubiquitination|immune response|pre-B cell allelic exclusion|protein autoubiquitination|T cell differentiation in thymus|V(D)J recombination	nucleus	endonuclease activity|histone binding|protein homodimerization activity|sequence-specific DNA binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr11:36595189G>A	M29474	CCDS7902.1	11p13	2014-09-17				ENSG00000166349		"RING-type (C3HC4) zinc fingers"	9831	protein-coding gene	gene with protein product	"recombination activating protein 1", "RING finger protein 74", "V(D)J recombination-activating protein 1"	179615				1612612, 1283330	Standard	NM_000448		Approved	RNF74, MGC43321	uc001mwu.4	P15918		ENST00000299440.5:c.335G>A	11.37:g.36595189G>A	ENSP00000299440:p.Arg112His						p.R112H	NM_000448.2	NP_000439.1	P15918	RAG1_HUMAN			2	447	+	all_lung(20;0.226)	all_hematologic(20;0.107)	112			Interaction with importin alpha-1.		E9PPC4|Q8IY72|Q8NER2	Missense_Mutation	SNP	ENST00000299440.5	37	c.335G>A	CCDS7902.1	.	.	.	.	.	.	.	.	.	.	G	32	5.146608	0.94603	.	.	ENSG00000166349	ENST00000534663;ENST00000299440	T;T	0.74737	-0.87;-0.87	6.14	6.14	0.99180	.	0.000000	0.85682	D	0.000000	D	0.89976	0.6871	M	0.91090	3.175	0.80722	D	1	D	0.76494	0.999	D	0.76575	0.988	D	0.90685	0.4608	10	0.87932	D	0	.	20.8597	0.99761	0.0:0.0:1.0:0.0	.	112	P15918	RAG1_HUMAN	H	112	ENSP00000434610:R112H;ENSP00000299440:R112H	ENSP00000299440:R112H	R	+	2	0	RAG1	36551765	1.000000	0.71417	1.000000	0.80357	0.867000	0.49689	8.856000	0.92245	2.937000	0.99478	0.650000	0.86243	CGC		0.453	RAG1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389535.1	NM_000448		27	36	0	0	0	1	0	27	36					A	36595189	G	A	36595189	3	1	435	1	0	0	0	0	1	0	0	0	13003	1087	38	1	337	1	RAG1	11	36595189	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	78636	36595189	98411327	5093	26018											
RAG1	5896	broad.mit.edu	37	chr11	36595998	36595998	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acatctcaagtcacaaggaaTcaaaagagatttttgtgcac	16	10	7	8	0	3	1	3	0	1	1	4	3	3	2	0	1	1	1	0	1	5	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:36595998T>C	ENST00000299440.5	+	2	1256	c.1144T>C	c.(1144-1146)Tca>Cca	p.S382P		NM_000448.2	NP_000439	P15918	RAG1_HUMAN	recombination activating gene 1	382					adaptive immune response (GO:0002250)|B cell differentiation (GO:0030183)|DNA recombination (GO:0006310)|histone monoubiquitination (GO:0010390)|immune response (GO:0006955)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of thymocyte apoptotic process (GO:0070244)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|pre-B cell allelic exclusion (GO:0002331)|protein autoubiquitination (GO:0051865)|regulation of T cell differentiation (GO:0045580)|T cell differentiation in thymus (GO:0033077)|T cell homeostasis (GO:0043029)|thymus development (GO:0048538)|V(D)J recombination (GO:0033151)	nucleus (GO:0005634)	acid-amino acid ligase activity (GO:0016881)|DNA binding (GO:0003677)|endonuclease activity (GO:0004519)|histone binding (GO:0042393)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding (GO:0043565)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	65	all_lung(20;0.226)	all_hematologic(20;0.107)				TCACAAGGAATCAAAAGAGAT	0.478									Familial Hemophagocytic Lymphohistiocytosis																												Pancreas(43;321 1249 3212 48200)|Esophageal Squamous(38;49 1003 17530 24363)	ENST00000299440.5																			0				NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	65						c.(1144-1146)Tca>Cca		recombination activating gene 1							46	49	48					11																	36595998		2202	4298	6500	SO:0001583	missense	5896	Familial Hemophagocytic Lymphohistiocytosis	Familial Cancer Database	FHLH, FHL, Familial Hemophagocytic Reticulosis, FHR	histone monoubiquitination|immune response|pre-B cell allelic exclusion|protein autoubiquitination|T cell differentiation in thymus|V(D)J recombination	nucleus	endonuclease activity|histone binding|protein homodimerization activity|sequence-specific DNA binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr11:36595998T>C	M29474	CCDS7902.1	11p13	2014-09-17				ENSG00000166349		"RING-type (C3HC4) zinc fingers"	9831	protein-coding gene	gene with protein product	"recombination activating protein 1", "RING finger protein 74", "V(D)J recombination-activating protein 1"	179615				1612612, 1283330	Standard	NM_000448		Approved	RNF74, MGC43321	uc001mwu.4	P15918		ENST00000299440.5:c.1144T>C	11.37:g.36595998T>C	ENSP00000299440:p.Ser382Pro						p.S382P	NM_000448.2	NP_000439.1	P15918	RAG1_HUMAN			2	1256	+	all_lung(20;0.226)	all_hematologic(20;0.107)	382					E9PPC4|Q8IY72|Q8NER2	Missense_Mutation	SNP	ENST00000299440.5	37	c.1144T>C	CCDS7902.1	.	.	.	.	.	.	.	.	.	.	T	11.53	1.665819	0.29604	.	.	ENSG00000166349	ENST00000534663;ENST00000299440	T;T	0.77620	-1.11;-1.11	5.53	1.59	0.23543	Zinc finger, C2H2-type/integrase, DNA-binding (1);Zinc finger, V(D)J recombination-activating protein 1 (1);	0.536718	0.17893	N	0.158455	T	0.65954	0.2741	L	0.42245	1.32	0.27830	N	0.94147	P	0.39551	0.678	B	0.41646	0.362	T	0.60934	-0.7164	10	0.54805	T	0.06	.	1.2045	0.01892	0.3772:0.0975:0.1279:0.3974	.	382	P15918	RAG1_HUMAN	P	382	ENSP00000434610:S382P;ENSP00000299440:S382P	ENSP00000299440:S382P	S	+	1	0	RAG1	36552574	0.001000	0.12720	0.597000	0.28824	0.836000	0.47400	0.314000	0.19432	0.911000	0.36747	0.529000	0.55759	TCA		0.478	RAG1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389535.1	NM_000448		8	34	0	0	0	1	0	8	34					C	36595998	T	C	36595998	3	2	435	1	0	0	0	0	1	0	0	0	13003	1435	50	4	1146	4	RAG1	11	36595998	Missense_Mutation	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	809	36595998	98410518	5094	26019											
API5	8539	broad.mit.edu	37	chr11	43357418	43357418	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attgttacaggcaaaagagaGccagtgaagatacaacttca	17	8	9	7	0	1	3	1	1	0	2	1	4	1	3	1	1	4	2	1	1	6	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:43357418G>T	ENST00000531273.1	+	13	1505	c.1366G>T	c.(1366-1368)Gcc>Tcc	p.A456S	API5_ENST00000534695.1_Intron|API5_ENST00000534600.1_Missense_Mutation_p.A456S|API5_ENST00000378852.3_Missense_Mutation_p.A456S|API5_ENST00000455725.2_Missense_Mutation_p.A445S|API5_ENST00000420461.2_Missense_Mutation_p.A402S|API5_ENST00000529334.1_3'UTR|RP11-484D2.2_ENST00000526220.1_RNA			Q9BZZ5	API5_HUMAN	apoptosis inhibitor 5	456					apoptotic process (GO:0006915)|negative regulation of apoptotic process (GO:0043066)|negative regulation of fibroblast apoptotic process (GO:2000270)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	fibroblast growth factor binding (GO:0017134)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(2)|urinary_tract(1)	20						GCAAAAGAGAGCCAGTGAAGA	0.373																																					Pancreas(1;98 122 5625 20895 49453)	ENST00000378852.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(2)|urinary_tract(1)	20						c.(1366-1368)Gcc>Tcc		apoptosis inhibitor 5							62	61	61					11																	43357418		2203	4300	6503	SO:0001583	missense	8539				anti-apoptosis|apoptosis	cytoplasm|spliceosomal complex	fibroblast growth factor binding	g.chr11:43357418G>T	U83857	CCDS31465.1, CCDS44572.1, CCDS44573.1	11p12	2010-09-30			ENSG00000166181	ENSG00000166181			594	protein-coding gene	gene with protein product	"API5-like 1", "fibroblast growth factor 2-interacting factor 2", "migration-inducing protein MIG8"	609774				9307294	Standard	NR_024625		Approved	AAC-11, API5L1, AAC11	uc010rfh.1	Q9BZZ5	OTTHUMG00000166395	ENST00000531273.1:c.1366G>T	11.37:g.43357418G>T	ENSP00000431391:p.Ala456Ser					API5_ENST00000534600.1_Missense_Mutation_p.A456S|API5_ENST00000420461.2_Missense_Mutation_p.A402S|API5_ENST00000534695.1_Intron|API5_ENST00000529334.1_3'UTR|API5_ENST00000455725.2_Missense_Mutation_p.A445S|API5_ENST00000531273.1_Missense_Mutation_p.A456S|RP11-484D2.2_ENST00000526220.1_RNA	p.A456S	NM_001142930.1|NM_006595.3	NP_001136402.1|NP_006586.1	Q9BZZ5	API5_HUMAN			13	1491	+			456					B4DGR0|B4DRJ2|D3DR21|O15441|Q9Y4J7	Missense_Mutation	SNP	ENST00000531273.1	37	c.1366G>T	CCDS44572.1	.	.	.	.	.	.	.	.	.	.	G	8.373	0.835832	0.16820	.	.	ENSG00000166181	ENST00000455725;ENST00000531273;ENST00000420461;ENST00000378852;ENST00000534600;ENST00000526394	T;T;T;T;T;T	0.11930	2.73;2.73;2.73;2.73;2.73;2.73	5.16	2.18	0.27775	Armadillo-type fold (1);	0.332965	0.36338	N	0.002650	T	0.07324	0.0185	N	0.17082	0.46	0.28353	N	0.920817	B;B;B;B;B	0.22604	0.005;0.021;0.072;0.007;0.007	B;B;B;B;B	0.26202	0.025;0.015;0.067;0.009;0.014	T	0.37934	-0.9684	10	0.09084	T	0.74	-12.4931	9.6888	0.40116	0.3694:0.0:0.6306:0.0	.	402;456;445;456;456	B4DGR0;Q9BZZ5;B4E283;G3V1C3;Q9BZZ5-2	.;API5_HUMAN;.;.;.	S	445;456;402;456;456;271	ENSP00000399341:A445S;ENSP00000431391:A456S;ENSP00000402540:A402S;ENSP00000368129:A456S;ENSP00000434462:A456S;ENSP00000436436:A271S	ENSP00000368129:A456S	A	+	1	0	API5	43313994	0.594000	0.26849	0.999000	0.59377	0.952000	0.60782	-0.028000	0.12350	0.651000	0.30788	-0.145000	0.13849	GCC		0.373	API5-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389545.1	NM_006595		29	28	1	0	7.26314e-15	1	7.9373e-15	29	28					T	43357418	G	T	43357418	3	4	435	1	0	0	0	0	1	0	0	0	773	971	34	5	1416	5	API5	11	43357418	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	6761420	43357418	91649098	5095	26020											
TTC17	55761	broad.mit.edu	37	chr11	43513610	43513610	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ggccaacatcttgcacaatgCcaagctctggaatgacgccg	11	7	10	13	2	2	1	0	1	2	0	2	2	2	2	3	2	4	2	3	2	4	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:43513610C>T	ENST00000039989.4	+	23	3205	c.3191C>T	c.(3190-3192)gCc>gTc	p.A1064V		NM_018259.5	NP_060729.2	Q96AE7	TTC17_HUMAN	tetratricopeptide repeat domain 17	1064					actin filament polymerization (GO:0030041)|cilium organization (GO:0044782)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)				breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(27)|ovary(5)|prostate(3)|skin(3)	53						TTGCACAATGCCAAGCTCTGG	0.498																																						ENST00000039989.4																			0				breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(27)|ovary(5)|prostate(3)|skin(3)	53						c.(3190-3192)gCc>gTc		tetratricopeptide repeat domain 17							266	232	243					11																	43513610		2203	4300	6503	SO:0001583	missense	55761						binding	g.chr11:43513610C>T	AK001540	CCDS31466.1	11p11.2	2013-01-10			ENSG00000052841	ENSG00000052841		"Tetratricopeptide (TTC) repeat domain containing"	25596	protein-coding gene	gene with protein product						12477932	Standard	NM_018259		Approved	FLJ10890	uc001mxi.3	Q96AE7	OTTHUMG00000166398	ENST00000039989.4:c.3191C>T	11.37:g.43513610C>T	ENSP00000039989:p.Ala1064Val						p.A1064V	NM_018259.5	NP_060729.2	Q96AE7	TTC17_HUMAN			23	3205	+			1064					G3XAB3|Q8NEC0	Missense_Mutation	SNP	ENST00000039989.4	37	c.3191C>T	CCDS31466.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	36|36	5.636812|5.636812	0.96693|0.96693	.|.	.|.	ENSG00000052841|ENSG00000052841	ENST00000039989|ENST00000418561	T|.	0.52057|.	0.68|.	5.61|5.61	5.61|5.61	0.85477|0.85477	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.70789|0.70789	0.3264|0.3264	L|L	0.54323|0.54323	1.7|1.7	0.80722|0.80722	D|D	1|1	D|.	0.69078|.	0.997|.	D|.	0.75020|.	0.985|.	T|T	0.67268|0.67268	-0.5713|-0.5713	10|5	0.26408|.	T|.	0.33|.	-11.6727|-11.6727	17.8183|17.8183	0.88642|0.88642	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	1064|.	Q96AE7|.	TTC17_HUMAN|.	V|S	1064|95	ENSP00000039989:A1064V|.	ENSP00000039989:A1064V|.	A|P	+|+	2|1	0|0	TTC17|TTC17	43470186|43470186	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.991000|0.991000	0.79684|0.79684	7.506000|7.506000	0.81665|0.81665	2.631000|2.631000	0.89168|0.89168	0.655000|0.655000	0.94253|0.94253	GCC|CCA		0.498	TTC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389577.2	NM_018259		63	84	0	0	0	1	0	63	84					T	43513610	C	T	43513610	3	4	435	1	0	0	0	0	1	0	0	0	16681	739	26	3	3281	3	TTC17	11	43513610	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	156192	43513610	91492906	5096	26021											
ACCS	84680	broad.mit.edu	37	chr11	44097102	44097102	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtcctgaatggtggtgcctcGctcttctctgctctggccac	3	13	11	14	1	3	1	0	1	3	0	6	1	4	1	3	3	2	2	3	3	1	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:44097102G>A	ENST00000263776.8	+	6	950	c.516G>A	c.(514-516)tcG>tcA	p.S172S	ACCS_ENST00000533208.1_3'UTR|ACCS_ENST00000432284.2_Missense_Mutation_p.A149T	NM_001127219.1|NM_032592.3	NP_001120691.1|NP_115981.1	Q96QU6	1A1L1_HUMAN	1-aminocyclopropane-1-carboxylate synthase homolog (Arabidopsis)(non-functional)	172					biosynthetic process (GO:0009058)		catalytic activity (GO:0003824)|protein homodimerization activity (GO:0042803)|pyridoxal phosphate binding (GO:0030170)			breast(4)|endometrium(3)|large_intestine(11)|lung(15)|ovary(1)|skin(1)	35						GTGGTGCCTCGCTCTTCTCTG	0.607																																					Esophageal Squamous(158;148 1889 8077 23160 41213)	ENST00000432284.2																			0				breast(4)|endometrium(3)|large_intestine(11)|lung(15)|ovary(1)|skin(1)	35						c.(445-447)Gct>Act		1-aminocyclopropane-1-carboxylate synthase homolog (Arabidopsis)(non-functional)							272	187	216					11																	44097102		2203	4300	6503	SO:0001819	synonymous_variant	84680						1-aminocyclopropane-1-carboxylate synthase activity|protein homodimerization activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups	g.chr11:44097102G>A	AY026508	CCDS7907.1	11p11	2008-03-12	2008-01-28		ENSG00000110455	ENSG00000110455			23989	protein-coding gene	gene with protein product		608405				11470512	Standard	NM_032592		Approved	PHACS, ACS	uc009yks.1	Q96QU6	OTTHUMG00000166427	ENST00000263776.8:c.516G>A	11.37:g.44097102G>A						ACCS_ENST00000263776.8_Silent_p.S172S|ACCS_ENST00000533208.1_3'UTR	p.A149T			Q96QU6	1A1L1_HUMAN			5	822	+			347					B4E219|Q8WUL4|Q96LX5	Missense_Mutation	SNP	ENST00000263776.8	37	c.445G>A	CCDS7907.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.270282	0.80469	.	.	ENSG00000110455	ENST00000432284	T	0.42900	0.96	4.72	-5.46	0.02608	.	.	.	.	.	T	0.24586	0.0596	.	.	.	0.22541	N	0.999009	B	0.33022	0.394	B	0.22880	0.042	T	0.13308	-1.0514	8	0.87932	D	0	-13.9251	8.2768	0.31877	0.0:0.4254:0.1186:0.456	.	149	B4E219	.	T	149	ENSP00000391775:A149T	ENSP00000391775:A149T	A	+	1	0	ACCS	44053678	0.166000	0.22962	0.824000	0.32777	0.927000	0.56198	-0.433000	0.06948	-1.207000	0.02637	-0.219000	0.12488	GCT		0.607	ACCS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389721.1	NM_032592		22	20	0	0	0	1	0	22	20					A	44097102	G	A	44097102	2	1	435	1	0	0	0	0	0	0	0	1	133	1074	38	1		1	ACCS	11	44097102	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	583492	44097102	90909414	5097	26022											
ACCS	84680	broad.mit.edu	37	chr11	44099415	44099415	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gtcactgggctagacacacgCcccttccagctcacagtgga	9	7	10	15	1	2	1	2	0	0	1	3	2	3	2	3	2	1	2	3	2	1	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:44099415C>T	ENST00000263776.8	+	8	1109	c.675C>T	c.(673-675)cgC>cgT	p.R225R		NM_001127219.1|NM_032592.3	NP_001120691.1|NP_115981.1	Q96QU6	1A1L1_HUMAN	1-aminocyclopropane-1-carboxylate synthase homolog (Arabidopsis)(non-functional)	225					biosynthetic process (GO:0009058)		catalytic activity (GO:0003824)|protein homodimerization activity (GO:0042803)|pyridoxal phosphate binding (GO:0030170)			breast(4)|endometrium(3)|large_intestine(11)|lung(15)|ovary(1)|skin(1)	35						TAGACACACGCCCCTTCCAGC	0.552																																					Esophageal Squamous(158;148 1889 8077 23160 41213)	ENST00000263776.8																			0				breast(4)|endometrium(3)|large_intestine(11)|lung(15)|ovary(1)|skin(1)	35						c.(673-675)cgC>cgT		1-aminocyclopropane-1-carboxylate synthase homolog (Arabidopsis)(non-functional)							74	62	66					11																	44099415		2203	4300	6503	SO:0001819	synonymous_variant	84680						1-aminocyclopropane-1-carboxylate synthase activity|protein homodimerization activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups	g.chr11:44099415C>T	AY026508	CCDS7907.1	11p11	2008-03-12	2008-01-28		ENSG00000110455	ENSG00000110455			23989	protein-coding gene	gene with protein product		608405				11470512	Standard	NM_032592		Approved	PHACS, ACS	uc009yks.1	Q96QU6	OTTHUMG00000166427	ENST00000263776.8:c.675C>T	11.37:g.44099415C>T							p.R225R	NM_001127219.1|NM_032592.3	NP_001120691.1|NP_115981.1	Q96QU6	1A1L1_HUMAN			8	1109	+			225					B4E219|Q8WUL4|Q96LX5	Silent	SNP	ENST00000263776.8	37	c.675C>T	CCDS7907.1																																																																																				0.552	ACCS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389721.1	NM_032592		3	15	0	0	0	1	0	3	15					T	44099415	C	T	44099415	2	4	435	1	0	0	0	0	0	0	0	1	133	726	26	3		3	ACCS	11	44099415	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	2313	44099415	90907101	5098	26023											
ALX4	60529	broad.mit.edu	37	chr11	44286443	44286443	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gccgcactgtgctccttggcCttcatgcggagggccgcgat	4	9	14	14	4	1	0	1	0	0	0	2	2	2	1	4	3	2	2	4	3	0	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:44286443C>A	ENST00000329255.3	-	4	1300	c.1197G>T	c.(1195-1197)aaG>aaT	p.K399N		NM_021926.3	NP_068745.2	Q9H161	ALX4_HUMAN	ALX homeobox 4	399					anterior/posterior pattern specification (GO:0009952)|digestive tract development (GO:0048565)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic skeletal system morphogenesis (GO:0048704)|hair follicle development (GO:0001942)|muscle organ development (GO:0007517)|palate development (GO:0060021)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic development (GO:0009791)|regulation of apoptotic process (GO:0042981)|skeletal system development (GO:0001501)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	16						GCTCCTTGGCCTTCATGCGGA	0.667																																						ENST00000329255.3																			0				central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	16						c.(1195-1197)aaG>aaT		ALX homeobox 4							50	43	46					11																	44286443		2203	4299	6502	SO:0001583	missense	60529				hair follicle development			g.chr11:44286443C>A	AF294629	CCDS31468.1	11p11.2	2011-06-20	2008-11-04		ENSG00000052850	ENSG00000052850		"Homeoboxes / PRD class"	450	protein-coding gene	gene with protein product		605420	"parietal foramina 2", "aristaless-like homeobox 4"	PFM2		11017806, 8644736	Standard	NM_021926		Approved	FPP, PFM, KIAA1788	uc001myb.3	Q9H161	OTTHUMG00000166557	ENST00000329255.3:c.1197G>T	11.37:g.44286443C>A	ENSP00000332744:p.Lys399Asn						p.K399N	NM_021926.3	NP_068745.2	Q9H161	ALX4_HUMAN			4	1300	-			399					Q96JN7|Q9H198|Q9HAY9	Missense_Mutation	SNP	ENST00000329255.3	37	c.1197G>T	CCDS31468.1	.	.	.	.	.	.	.	.	.	.	C	18.47	3.630838	0.67015	.	.	ENSG00000052850	ENST00000329255	D	0.99598	-6.26	5.19	3.31	0.37934	Paired-like homeodomain protein, OAR (2);	0.000000	0.85682	D	0.000000	D	0.99384	0.9783	M	0.69823	2.125	0.51767	D	0.999932	D	0.89917	1.0	D	0.97110	1.0	D	0.99564	1.0969	10	0.87932	D	0	.	8.5866	0.33662	0.0:0.6371:0.0:0.3629	.	399	Q9H161	ALX4_HUMAN	N	399	ENSP00000332744:K399N	ENSP00000332744:K399N	K	-	3	2	ALX4	44243019	0.973000	0.33851	1.000000	0.80357	0.972000	0.66771	0.152000	0.16302	0.683000	0.31428	0.561000	0.74099	AAG		0.667	ALX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390399.1			6	25	1	0	0.000274275	1	0.000279654	6	25					A	44286443	C	A	44286443	3	1	435	1	0	0	0	0	1	0	0	0	558	680	24	5	42	5	ALX4	11	44286443	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	187028	44286443	90720073	5099	26024											
CHST1	8534	broad.mit.edu	37	chr11	45671748	45671748	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgcggaaggtctcgctgcgCgaagccagaatgccgcgggg	7	5	17	12	7	1	1	0	0	1	1	3	3	1	2	2	4	3	1	2	4	3	0	rs111740567		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:45671748C>T	ENST00000308064.2	-	4	1396	c.726G>A	c.(724-726)tcG>tcA	p.S242S	RP11-495O11.1_ENST00000525563.1_RNA|CHST1_ENST00000533673.1_5'Flank	NM_003654.5	NP_003645.1	O43916	CHST1_HUMAN	carbohydrate (keratan sulfate Gal-6) sulfotransferase 1	242					carbohydrate metabolic process (GO:0005975)|galactose metabolic process (GO:0006012)|glycosaminoglycan metabolic process (GO:0030203)|inflammatory response (GO:0006954)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|polysaccharide metabolic process (GO:0005976)|small molecule metabolic process (GO:0044281)|sulfur compound metabolic process (GO:0006790)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	keratan sulfotransferase activity (GO:0045130)|sulfotransferase activity (GO:0008146)			breast(1)|endometrium(3)|large_intestine(10)|lung(17)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(35;3e-06)|BRCA - Breast invasive adenocarcinoma(625;0.0781)		TCTCGCTGCGCGAAGCCAGAA	0.657																																						ENST00000308064.2																			0				breast(1)|endometrium(3)|large_intestine(10)|lung(17)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	42						c.(724-726)tcG>tcA		carbohydrate (keratan sulfate Gal-6) sulfotransferase 1							53	51	52					11																	45671748		2203	4299	6502	SO:0001819	synonymous_variant	8534				galactose metabolic process|inflammatory response|keratan sulfate metabolic process	Golgi membrane|integral to membrane	keratan sulfotransferase activity	g.chr11:45671748C>T	U65637	CCDS7913.1	11p11.2	2010-04-29			ENSG00000175264	ENSG00000175264		"Sulfotransferases, membrane-bound"	1969	protein-coding gene	gene with protein product		603797				9405439, 9639683	Standard	NM_003654		Approved	C6ST, KSGal6ST	uc001mys.2	O43916		ENST00000308064.2:c.726G>A	11.37:g.45671748C>T							p.S242S	NM_003654.5	NP_003645.1	O43916	CHST1_HUMAN		GBM - Glioblastoma multiforme(35;3e-06)|BRCA - Breast invasive adenocarcinoma(625;0.0781)	4	1396	-			242					D3DQP2	Silent	SNP	ENST00000308064.2	37	c.726G>A	CCDS7913.1																																																																																				0.657	CHST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390127.1	NM_003654		15	31	0	0	0	1	0	15	31					T	45671748	C	T	45671748	2	4	435	1	0	0	0	0	0	0	0	1	3397	755	27	1		1	CHST1	11	45671748	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	1385305	45671748	89334768	5100	26025											
SLC35C1	55343	broad.mit.edu	37	chr11	45832372	45832372	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagggggcagaaggcacccTgtcgtggctgggcaccgtct	6	6	18	11	2	1	1	0	0	1	1	2	2	1	2	2	6	0	4	2	6	1	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:45832372T>C	ENST00000314134.3	+	2	1977	c.581T>C	c.(580-582)cTg>cCg	p.L194P	SLC35C1_ENST00000442528.2_Missense_Mutation_p.L181P|SLC35C1_ENST00000456334.1_Missense_Mutation_p.L181P|CTD-2210P24.6_ENST00000534128.1_lincRNA	NM_018389.4	NP_060859.4	Q96A29	FUCT1_HUMAN	solute carrier family 35 (GDP-fucose transporter), member C1	194					carbohydrate transport (GO:0008643)|lipid glycosylation (GO:0030259)|negative regulation of Notch signaling pathway (GO:0045746)|transmembrane transport (GO:0055085)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)				endometrium(3)|kidney(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	10				GBM - Glioblastoma multiforme(35;0.227)		GAAGGCACCCTGTCGTGGCTG	0.657																																						ENST00000314134.3																			0				endometrium(3)|kidney(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	10						c.(580-582)cTg>cCg		solute carrier family 35 (GDP-fucose transporter), member C1							45	47	46					11																	45832372		2203	4299	6502	SO:0001583	missense	55343					Golgi membrane|integral to membrane	GDP-fucose transmembrane transporter activity	g.chr11:45832372T>C		CCDS7914.1, CCDS44575.1	11p11.2	2014-09-17	2013-07-17			ENSG00000181830		"Solute carriers"	20197	protein-coding gene	gene with protein product		605881	"solute carrier family 35, member C1"			11326279, 11326280	Standard	NM_018389		Approved	FUCT1, FLJ11320	uc010rgm.2	Q96A29		ENST00000314134.3:c.581T>C	11.37:g.45832372T>C	ENSP00000313318:p.Leu194Pro					SLC35C1_ENST00000456334.1_Missense_Mutation_p.L181P|SLC35C1_ENST00000442528.2_Missense_Mutation_p.L181P	p.L194P	NM_018389.4	NP_060859.4	Q96A29	FUCT1_HUMAN		GBM - Glioblastoma multiforme(35;0.227)	2	1977	+			194					B2RDB2|Q9BV76|Q9NUJ8	Missense_Mutation	SNP	ENST00000314134.3	37	c.581T>C	CCDS7914.1	.	.	.	.	.	.	.	.	.	.	T	18.66	3.671436	0.67814	.	.	ENSG00000181830	ENST00000442528;ENST00000456334;ENST00000530670;ENST00000314134;ENST00000540685	T;T;T	0.67345	-0.25;-0.25;-0.26	6.08	6.08	0.98989	.	0.061401	0.64402	D	0.000003	D	0.83658	0.5302	M	0.86268	2.805	0.80722	D	1	D	0.89917	1.0	D	0.74674	0.984	D	0.85919	0.1445	10	0.66056	D	0.02	-11.7661	16.6438	0.85155	0.0:0.0:0.0:1.0	.	194	Q96A29	FUCT1_HUMAN	P	181;181;115;194;194	ENSP00000412408:L181P;ENSP00000399779:L181P;ENSP00000313318:L194P	ENSP00000313318:L194P	L	+	2	0	SLC35C1	45788948	1.000000	0.71417	1.000000	0.80357	0.427000	0.31564	7.799000	0.85936	2.333000	0.79357	0.533000	0.62120	CTG		0.657	SLC35C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390139.1	NM_018389		11	19	0	0	0	1	0	11	19					C	45832372	T	C	45832372	3	2	435	1	0	0	0	0	1	0	0	0	14579	1580	55	4	587	4	SLC35C1	11	45832372	Missense_Mutation	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	160624	45832372	89174144	5101	26026											
CRY2	1408	broad.mit.edu	37	chr11	45883694	45883694	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcctggataagcacttggaaCggaaggtatgggccgtttct	9	10	14	8	2	1	0	0	0	1	0	1	3	1	3	2	5	2	3	2	5	4	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:45883694C>T	ENST00000443527.2	+	5	821	c.799C>T	c.(799-801)Cgg>Tgg	p.R267W	CRY2_ENST00000417225.2_Missense_Mutation_p.R185W	NM_021117.3	NP_066940.2	Q49AN0	CRY2_HUMAN	cryptochrome circadian clock 2	246					blue light signaling pathway (GO:0009785)|circadian regulation of gene expression (GO:0032922)|circadian rhythm (GO:0007623)|DNA repair (GO:0006281)|entrainment of circadian clock by photoperiod (GO:0043153)|glucose homeostasis (GO:0042593)|negative regulation of circadian rhythm (GO:0042754)|negative regulation of glucocorticoid receptor signaling pathway (GO:2000323)|negative regulation of phosphoprotein phosphatase activity (GO:0032515)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|protein-chromophore linkage (GO:0018298)|regulation of circadian rhythm (GO:0042752)|regulation of sodium-dependent phosphate transport (GO:2000118)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|nucleus (GO:0005634)	blue light photoreceptor activity (GO:0009882)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|DNA photolyase activity (GO:0003913)|FAD binding (GO:0071949)|phosphatase binding (GO:0019902)|single-stranded DNA binding (GO:0003697)|transcription factor binding transcription factor activity (GO:0000989)|transcription regulatory region sequence-specific DNA binding (GO:0000976)|ubiquitin binding (GO:0043130)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(2)	15						GCACTTGGAACGGAAGGTATG	0.537																																					Esophageal Squamous(106;91 1499 8126 12599 39610)	ENST00000443527.2																			0				NS(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(2)	15						c.(799-801)Cgg>Tgg		cryptochrome 2 (photolyase-like)							75	56	63					11																	45883694		2203	4299	6502	SO:0001583	missense	1408				DNA repair|protein-chromophore linkage|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	blue light photoreceptor activity|damaged DNA binding|DNA photolyase activity|nucleotide binding|protein binding|single-stranded DNA binding	g.chr11:45883694C>T	AB014558	CCDS7915.2, CCDS44576.1	11p11.2	2014-01-17	2014-01-17		ENSG00000121671	ENSG00000121671			2385	protein-coding gene	gene with protein product		603732	"cryptochrome 2 (photolyase-like)"			8909283	Standard	NM_021117		Approved		uc010rgn.2	Q49AN0	OTTHUMG00000153225	ENST00000443527.2:c.799C>T	11.37:g.45883694C>T	ENSP00000406751:p.Arg267Trp					CRY2_ENST00000417225.2_Missense_Mutation_p.R185W	p.R267W	NM_021117.3	NP_066940.2	Q49AN0	CRY2_HUMAN			5	821	+			246			FAD-binding.		B4DH32|B4DZD6|O75148|Q8IV71	Missense_Mutation	SNP	ENST00000443527.2	37	c.799C>T	CCDS7915.2	.	.	.	.	.	.	.	.	.	.	C	26.2	4.717862	0.89205	.	.	ENSG00000121671	ENST00000417225;ENST00000443527	.	.	.	5.62	4.65	0.58169	.	0.049851	0.85682	D	0.000000	D	0.84023	0.5381	M	0.90977	3.165	0.48696	D	0.999691	D;D	0.89917	1.0;0.999	D;D	0.75020	0.973;0.985	D	0.87097	0.2176	9	0.87932	D	0	-28.9915	13.2219	0.59892	0.2401:0.7599:0.0:0.0	.	267;185	B4DZD6;Q49AN0-2	.;.	W	185;267	.	ENSP00000397419:R185W	R	+	1	2	CRY2	45840270	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	5.335000	0.65929	2.651000	0.90000	0.563000	0.77884	CGG		0.537	CRY2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000330235.2	NM_021117		8	22	0	0	0	1	0	8	22					T	45883694	C	T	45883694	3	4	435	1	0	0	0	0	1	0	0	0	3904	527	19	1	853	1	CRY2	11	45883694	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	51322	45883694	89122822	5102	26027											
CRY2	1408	broad.mit.edu	37	chr11	45891993	45891993	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcattggtgtggactacccaCggcccatcgtcaaccatgcc	8	9	9	15	2	2	0	2	0	0	0	3	1	2	1	4	3	3	0	4	3	2	2	rs372919618		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:45891993C>T	ENST00000443527.2	+	9	1544	c.1522C>T	c.(1522-1524)Cgg>Tgg	p.R508W	CRY2_ENST00000417225.2_Missense_Mutation_p.R426W	NM_021117.3	NP_066940.2	Q49AN0	CRY2_HUMAN	cryptochrome circadian clock 2	487					blue light signaling pathway (GO:0009785)|circadian regulation of gene expression (GO:0032922)|circadian rhythm (GO:0007623)|DNA repair (GO:0006281)|entrainment of circadian clock by photoperiod (GO:0043153)|glucose homeostasis (GO:0042593)|negative regulation of circadian rhythm (GO:0042754)|negative regulation of glucocorticoid receptor signaling pathway (GO:2000323)|negative regulation of phosphoprotein phosphatase activity (GO:0032515)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|protein-chromophore linkage (GO:0018298)|regulation of circadian rhythm (GO:0042752)|regulation of sodium-dependent phosphate transport (GO:2000118)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|nucleus (GO:0005634)	blue light photoreceptor activity (GO:0009882)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|DNA photolyase activity (GO:0003913)|FAD binding (GO:0071949)|phosphatase binding (GO:0019902)|single-stranded DNA binding (GO:0003697)|transcription factor binding transcription factor activity (GO:0000989)|transcription regulatory region sequence-specific DNA binding (GO:0000976)|ubiquitin binding (GO:0043130)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(2)	15						GGACTACCCACGGCCCATCGT	0.527																																					Esophageal Squamous(106;91 1499 8126 12599 39610)	ENST00000443527.2																			0				NS(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(2)	15						c.(1522-1524)Cgg>Tgg		cryptochrome 2 (photolyase-like)		C	TRP/ARG,TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	95	81	86		1276,1522	3.7	1	11		86	0,8598		0,0,4299	no	missense,missense	CRY2	NM_001127457.1,NM_021117.3	101,101	0,1,6501	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging,probably-damaging	426/533,508/615	45891993	1,13003	2203	4299	6502	SO:0001583	missense	1408				DNA repair|protein-chromophore linkage|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	blue light photoreceptor activity|damaged DNA binding|DNA photolyase activity|nucleotide binding|protein binding|single-stranded DNA binding	g.chr11:45891993C>T	AB014558	CCDS7915.2, CCDS44576.1	11p11.2	2014-01-17	2014-01-17		ENSG00000121671	ENSG00000121671			2385	protein-coding gene	gene with protein product		603732	"cryptochrome 2 (photolyase-like)"			8909283	Standard	NM_021117		Approved		uc010rgn.2	Q49AN0	OTTHUMG00000153225	ENST00000443527.2:c.1522C>T	11.37:g.45891993C>T	ENSP00000406751:p.Arg508Trp					CRY2_ENST00000417225.2_Missense_Mutation_p.R426W	p.R508W	NM_021117.3	NP_066940.2	Q49AN0	CRY2_HUMAN			9	1544	+			487					B4DH32|B4DZD6|O75148|Q8IV71	Missense_Mutation	SNP	ENST00000443527.2	37	c.1522C>T	CCDS7915.2	.	.	.	.	.	.	.	.	.	.	C	20.6	4.019774	0.75275	2.27E-4	0.0	ENSG00000121671	ENST00000417225;ENST00000443527	.	.	.	5.63	3.65	0.41850	DNA photolyase, FAD-binding/Cryptochrome, C-terminal (2);	0.109180	0.64402	D	0.000020	T	0.70081	0.3183	M	0.84773	2.715	0.32258	N	0.570493	D;D;D	0.65815	0.991;0.995;0.977	P;P;P	0.58970	0.849;0.849;0.663	T	0.79329	-0.1848	9	0.48119	T	0.1	-29.6091	13.937	0.64032	0.4961:0.5039:0.0:0.0	.	487;508;426	Q49AN0;B4DZD6;Q49AN0-2	CRY2_HUMAN;.;.	W	426;508	.	ENSP00000397419:R426W	R	+	1	2	CRY2	45848569	0.996000	0.38824	0.984000	0.44739	0.995000	0.86356	3.495000	0.53280	1.340000	0.45581	0.655000	0.94253	CGG		0.527	CRY2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000330235.2	NM_021117		10	35	0	0	0	1	0	10	35					T	45891993	C	T	45891993	3	4	435	1	0	0	0	0	1	0	0	0	3904	527	19	1	1592	1	CRY2	11	45891993	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	8299	45891993	89114523	5103	26028											
DGKZ	8525	broad.mit.edu	37	chr11	46389291	46389291	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gagcagtactgtgtagccagGatgctggtgagtgctcgtag	8	10	16	7	1	0	1	0	1	0	0	1	3	0	2	1	2	5	6	1	2	3	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:46389291G>T	ENST00000454345.1	+	4	1052	c.927G>T	c.(925-927)agG>agT	p.R309S	DGKZ_ENST00000528615.1_Intron|DGKZ_ENST00000318201.8_Missense_Mutation_p.R120S|DGKZ_ENST00000395574.3_Missense_Mutation_p.R86S|DGKZ_ENST00000343674.6_Missense_Mutation_p.R137S|DGKZ_ENST00000532868.2_Missense_Mutation_p.R124S|DGKZ_ENST00000527911.1_Missense_Mutation_p.R120S|DGKZ_ENST00000456247.2_Missense_Mutation_p.R120S|DGKZ_ENST00000421244.2_Missense_Mutation_p.R120S|DGKZ_ENST00000543978.1_Intron	NM_001105540.1	NP_001099010.1	Q13574	DGKZ_HUMAN	diacylglycerol kinase, zeta	309					blood coagulation (GO:0007596)|cell migration (GO:0016477)|intracellular signal transduction (GO:0035556)|lipid phosphorylation (GO:0046834)|mitotic G1 DNA damage checkpoint (GO:0031571)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of Ras protein signal transduction (GO:0046580)|phosphorylation (GO:0016310)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)	cytoplasm (GO:0005737)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|enzyme inhibitor activity (GO:0004857)|lipid kinase activity (GO:0001727)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)|protein C-terminus binding (GO:0008022)			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|pancreas(1)|prostate(1)|skin(1)	25				GBM - Glioblastoma multiforme(35;0.0259)|Lung(87;0.141)		GTGTAGCCAGGATGCTGGTGA	0.647											OREG0020942	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000454345.1																			0				central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|pancreas(1)|prostate(1)|skin(1)	25						c.(925-927)agG>agT		diacylglycerol kinase, zeta							107	89	95					11																	46389291		2202	4299	6501	SO:0001583	missense	8525				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell migration|intracellular signal transduction|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of mitotic cell cycle|platelet activation	cytoplasm|lamellipodium|nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|lipid kinase activity|metal ion binding|protein binding|protein C-terminus binding	g.chr11:46389291G>T	U51477	CCDS7918.1, CCDS41640.1, CCDS44579.1, CCDS44580.1, CCDS55757.1, CCDS55758.1, CCDS55759.1, CCDS44579.2	11p11.2	2010-11-24	2010-11-24		ENSG00000149091	ENSG00000149091	2.7.1.107		2857	protein-coding gene	gene with protein product		601441	"diacylglycerol kinase, zeta 104kDa"			8626588	Standard	NM_003646		Approved	DAGK5, hDGKzeta, DGK-ZETA, DAGK6	uc001ncn.1	Q13574	OTTHUMG00000166437	ENST00000454345.1:c.927G>T	11.37:g.46389291G>T	ENSP00000412178:p.Arg309Ser		OREG0020942	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	938	DGKZ_ENST00000395574.3_Missense_Mutation_p.R86S|DGKZ_ENST00000543978.1_Intron|DGKZ_ENST00000318201.8_Missense_Mutation_p.R120S|DGKZ_ENST00000343674.6_Missense_Mutation_p.R137S|DGKZ_ENST00000421244.2_Missense_Mutation_p.R120S|DGKZ_ENST00000528615.1_Intron|DGKZ_ENST00000527911.1_Missense_Mutation_p.R120S|DGKZ_ENST00000532868.2_Missense_Mutation_p.R124S|DGKZ_ENST00000456247.2_Missense_Mutation_p.R120S	p.R309S	NM_001105540.1	NP_001099010.1	Q13574	DGKZ_HUMAN		GBM - Glioblastoma multiforme(35;0.0259)|Lung(87;0.141)	4	1052	+			309					B7Z2M9|B7Z6M3|E9PPW4|F6UCU9|G3V0F6|J3KNJ6|O00542|Q6ZVG7|Q8IVW9	Missense_Mutation	SNP	ENST00000454345.1	37	c.927G>T	CCDS41640.1	.	.	.	.	.	.	.	.	.	.	G	17.13	3.310325	0.60414	.	.	ENSG00000149091	ENST00000343674;ENST00000395574;ENST00000532868;ENST00000527911;ENST00000456247;ENST00000421244;ENST00000318201;ENST00000454345;ENST00000524448	D;T;T;T;D;T;T;T;T	0.83755	-1.76;2.67;2.73;3.67;-1.76;2.56;2.66;1.97;3.0	5.16	4.24	0.50183	Protein kinase C-like, phorbol ester/diacylglycerol binding (1);	0.192570	0.56097	D	0.000031	T	0.70064	0.3181	N	0.24115	0.695	0.24938	N	0.991876	B;B;B;B;B;B;B;B;B;B	0.32467	0.311;0.311;0.157;0.009;0.02;0.053;0.053;0.077;0.372;0.151	B;B;B;B;B;B;B;B;B;B	0.30316	0.066;0.066;0.066;0.033;0.04;0.096;0.096;0.066;0.114;0.066	T	0.64711	-0.6343	10	0.62326	D	0.03	.	8.6562	0.34064	0.2316:0.0:0.7684:0.0	.	120;85;86;120;309;120;120;86;86;137	B7Z2M9;B7Z6M3;B7Z8F6;E9PPW4;Q13574;Q13574-2;G3V0F6;A8MVN1;Q6ZWA5;Q6ZVG7	.;.;.;.;DGKZ_HUMAN;.;.;.;.;.	S	137;86;85;120;120;120;120;309;30	ENSP00000343065:R137S;ENSP00000378941:R86S;ENSP00000436273:R85S;ENSP00000436291:R120S;ENSP00000395684:R120S;ENSP00000391021:R120S;ENSP00000320340:R120S;ENSP00000412178:R309S;ENSP00000435763:R30S	ENSP00000320340:R120S	R	+	3	2	DGKZ	46345867	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	0.916000	0.28651	1.319000	0.45190	0.555000	0.69702	AGG		0.647	DGKZ-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000389772.1	NM_001105540		13	12	1	0	0.000151284	1	0.000155038	13	12					T	46389291	G	T	46389291	3	4	435	1	0	0	0	0	1	0	0	0	4474	1165	41	5	1381	5	DGKZ	11	46389291	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	497298	46389291	88617225	5104	26029											
DGKZ	8525	broad.mit.edu	37	chr11	46401088	46401088	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgccactacatcgtggaggcCggggcctcgctcatgaagac	8	7	13	13	3	1	2	1	1	0	1	3	3	1	3	3	4	2	1	3	4	2	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:46401088C>T	ENST00000454345.1	+	31	3332	c.3207C>T	c.(3205-3207)gcC>gcT	p.A1069A	MDK_ENST00000395565.1_5'Flank|MDK_ENST00000359803.3_5'Flank|DGKZ_ENST00000528615.1_Silent_p.A659A|MDK_ENST00000407067.1_5'Flank|DGKZ_ENST00000318201.8_Silent_p.A858A|MDK_ENST00000395569.4_5'Flank|DGKZ_ENST00000395574.3_Silent_p.A847A|DGKZ_ENST00000343674.6_Silent_p.A897A|DGKZ_ENST00000532868.2_Silent_p.A885A|MDK_ENST00000395566.4_5'Flank|MDK_ENST00000405308.2_5'Flank|DGKZ_ENST00000527911.1_Silent_p.A886A|DGKZ_ENST00000456247.2_Silent_p.A880A|DGKZ_ENST00000421244.2_Silent_p.A881A|DGKZ_ENST00000543978.1_Silent_p.A233A	NM_001105540.1	NP_001099010.1	Q13574	DGKZ_HUMAN	diacylglycerol kinase, zeta	1069					blood coagulation (GO:0007596)|cell migration (GO:0016477)|intracellular signal transduction (GO:0035556)|lipid phosphorylation (GO:0046834)|mitotic G1 DNA damage checkpoint (GO:0031571)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of Ras protein signal transduction (GO:0046580)|phosphorylation (GO:0016310)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)	cytoplasm (GO:0005737)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|enzyme inhibitor activity (GO:0004857)|lipid kinase activity (GO:0001727)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)|protein C-terminus binding (GO:0008022)			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|pancreas(1)|prostate(1)|skin(1)	25				GBM - Glioblastoma multiforme(35;0.0259)|Lung(87;0.141)		TCGTGGAGGCCGGGGCCTCGC	0.667																																						ENST00000454345.1																			0				central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|pancreas(1)|prostate(1)|skin(1)	25						c.(3205-3207)gcC>gcT		diacylglycerol kinase, zeta							19	19	19					11																	46401088		2191	4289	6480	SO:0001819	synonymous_variant	8525				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell migration|intracellular signal transduction|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of mitotic cell cycle|platelet activation	cytoplasm|lamellipodium|nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|lipid kinase activity|metal ion binding|protein binding|protein C-terminus binding	g.chr11:46401088C>T	U51477	CCDS7918.1, CCDS41640.1, CCDS44579.1, CCDS44580.1, CCDS55757.1, CCDS55758.1, CCDS55759.1, CCDS44579.2	11p11.2	2010-11-24	2010-11-24		ENSG00000149091	ENSG00000149091	2.7.1.107		2857	protein-coding gene	gene with protein product		601441	"diacylglycerol kinase, zeta 104kDa"			8626588	Standard	NM_003646		Approved	DAGK5, hDGKzeta, DGK-ZETA, DAGK6	uc001ncn.1	Q13574	OTTHUMG00000166437	ENST00000454345.1:c.3207C>T	11.37:g.46401088C>T						DGKZ_ENST00000395574.3_Silent_p.A847A|DGKZ_ENST00000543978.1_Silent_p.A233A|DGKZ_ENST00000318201.8_Silent_p.A858A|DGKZ_ENST00000343674.6_Silent_p.A897A|DGKZ_ENST00000421244.2_Silent_p.A881A|DGKZ_ENST00000528615.1_Silent_p.A659A|DGKZ_ENST00000527911.1_Silent_p.A886A|DGKZ_ENST00000532868.2_Silent_p.A885A|DGKZ_ENST00000456247.2_Silent_p.A880A	p.A1069A	NM_001105540.1	NP_001099010.1	Q13574	DGKZ_HUMAN		GBM - Glioblastoma multiforme(35;0.0259)|Lung(87;0.141)	31	3332	+			1069					B7Z2M9|B7Z6M3|E9PPW4|F6UCU9|G3V0F6|J3KNJ6|O00542|Q6ZVG7|Q8IVW9	Silent	SNP	ENST00000454345.1	37	c.3207C>T	CCDS41640.1																																																																																				0.667	DGKZ-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000389772.1	NM_001105540		6	3	0	0	0	1	0	6	3					T	46401088	C	T	46401088	2	4	435	1	0	0	0	0	0	0	0	1	4474	639	23	2		2	DGKZ	11	46401088	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	11797	46401088	88605428	5105	26030											
CHRM4	1132	broad.mit.edu	37	chr11	46407071	46407071	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actcattgcctgtctgcttcGtcacaatctggatcttggac	7	14	8	12	1	5	0	2	0	3	0	6	2	5	2	1	2	2	1	1	2	1	3	rs191392166	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:46407071G>A	ENST00000433765.2	-	1	1036	c.1037C>T	c.(1036-1038)aCg>aTg	p.T346M		NM_000741.2	NP_000732.2	P08173	ACM4_HUMAN	cholinergic receptor, muscarinic 4	346					adenylate cyclase-inhibiting G-protein coupled acetylcholine receptor signaling pathway (GO:0007197)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|regulation of locomotion (GO:0040012)|signal transduction (GO:0007165)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	G-protein coupled acetylcholine receptor activity (GO:0016907)			breast(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(6)|prostate(3)|skin(1)	20				GBM - Glioblastoma multiforme(35;0.0254)|Lung(87;0.14)	Aclidinium(DB08897)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Aripiprazole(DB01238)|Atropine(DB00572)|Brompheniramine(DB00835)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Cryptenamine(DB00785)|Darifenacin(DB00496)|Desipramine(DB01151)|Doxepin(DB01142)|Fesoterodine(DB06702)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Imipramine(DB00458)|Isopropamide(DB01625)|Ketamine(DB01221)|Loxapine(DB00408)|Maprotiline(DB00934)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Nicardipine(DB00622)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Paroxetine(DB00715)|Pethidine(DB00454)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Scopolamine(DB00747)|Solifenacin(DB01591)|Tolterodine(DB01036)|Trihexyphenidyl(DB00376)|Trimipramine(DB00726)|Tropicamide(DB00809)|Ziprasidone(DB00246)	TGTCTGCTTCGTCACAATCTG	0.662													g|||	2	0.000399361	0.0015	0	5008	,	,		16278	0		0	False		,,,				2504	0				Esophageal Squamous(171;1020 1936 4566 30205 42542)	ENST00000433765.2																			0				breast(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(6)|prostate(3)|skin(1)	20						c.(1036-1038)aCg>aTg		cholinergic receptor, muscarinic 4	Atropine(DB00572)|Benzquinamide(DB00767)|Cryptenamine(DB00785)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Thiethylperazine(DB00372)|Tropicamide(DB00809)		MET/THR	4,4280		0,4,2138	184	195	192		1037	4.4	1	11		192	0,8474		0,0,4237	yes	missense	CHRM4	NM_000741.2	81	0,4,6375	AA,AG,GG		0.0,0.0934,0.0314	probably-damaging	346/480	46407071	4,12754	2142	4237	6379	SO:0001583	missense	1132				cell proliferation	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity	g.chr11:46407071G>A	M16405	CCDS44581.1	11p12-p11.2	2012-08-08			ENSG00000180720	ENSG00000180720		"Cholinergic receptors", "GPCR / Class A : Cholinergic receptors, muscarinic"	1953	protein-coding gene	gene with protein product	"acetylcholine receptor, muscarinic 4"	118495				1577490	Standard	NM_000741		Approved		uc001nct.1	P08173	OTTHUMG00000154371	ENST00000433765.2:c.1037C>T	11.37:g.46407071G>A	ENSP00000409378:p.Thr346Met						p.T346M	NM_000741.2	NP_000732.2	P08173	ACM4_HUMAN		GBM - Glioblastoma multiforme(35;0.0254)|Lung(87;0.14)	1	1036	-			346					B2RPP4|Q0VD60|Q4VBK7	Missense_Mutation	SNP	ENST00000433765.2	37	c.1037C>T	CCDS44581.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	g	14.81	2.647409	0.47258	9.34E-4	0.0	ENSG00000180720	ENST00000433765	T	0.61274	0.12	4.44	4.44	0.53790	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.70988	0.3287	L	0.52759	1.655	0.53005	D	0.999962	D	0.89917	1.0	D	0.75020	0.985	T	0.74472	-0.3654	9	0.66056	D	0.02	-8.5989	17.2558	0.87056	0.0:0.0:1.0:0.0	.	346	P08173	ACM4_HUMAN	M	346	ENSP00000409378:T346M	ENSP00000409378:T346M	T	-	2	0	CHRM4	46363647	1.000000	0.71417	0.998000	0.56505	0.523000	0.34469	7.511000	0.81718	2.307000	0.77673	0.457000	0.33378	ACG		0.662	CHRM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334985.1	NM_000741		14	208	0	0	0	1	0	14	208					A	46407071	G	A	46407071	3	1	435	1	0	0	0	0	1	0	0	0	3379	1145	40	1	406	1	CHRM4	11	46407071	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	5983	46407071	88599445	5106	26031											
AMBRA1	55626	broad.mit.edu	37	chr11	46564389	46564389	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acagaggccctcccaaagagCggcgggtaggacccagactg	11	3	14	13	2	0	3	0	0	0	3	1	4	1	4	3	4	1	1	3	4	2	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:46564389C>T	ENST00000458649.2	-	7	1596	c.1178G>A	c.(1177-1179)cGc>cAc	p.R393H	AMBRA1_ENST00000533727.1_Missense_Mutation_p.R303H|AMBRA1_ENST00000426438.1_Missense_Mutation_p.R393H|AMBRA1_ENST00000528950.1_Missense_Mutation_p.R393H|AMBRA1_ENST00000298834.3_Missense_Mutation_p.R393H|AMBRA1_ENST00000534300.1_Missense_Mutation_p.R393H|AMBRA1_ENST00000314845.3_Missense_Mutation_p.R303H			Q9C0C7	AMRA1_HUMAN	autophagy/beclin-1 regulator 1	393					autophagy (GO:0006914)|cell differentiation (GO:0030154)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron apoptotic process (GO:0043524)|neural tube development (GO:0021915)	axoneme (GO:0005930)|cytoplasm (GO:0005737)|phagocytic vesicle (GO:0045335)				NS(1)|breast(3)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	39				GBM - Glioblastoma multiforme(35;0.0435)|Lung(87;0.182)		TCCCAAAGAGCGGCGGGTAGG	0.607																																						ENST00000458649.2																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	39						c.(1177-1179)cGc>cAc		autophagy/beclin-1 regulator 1							68	78	75					11																	46564389		2201	4299	6500	SO:0001583	missense	55626				autophagy|cell differentiation|nervous system development	autophagic vacuole|cytoplasmic vesicle		g.chr11:46564389C>T	AB051523	CCDS31475.1, CCDS58132.1, CCDS73281.1	11p11.2	2013-01-09			ENSG00000110497	ENSG00000110497		"WD repeat domain containing", "DDB1 and CUL4 associated factors"	25990	protein-coding gene	gene with protein product	"WD repeat domain 94", "DDB1 and CUL4 associated factor 3"	611359				17622796, 17603510, 17589504	Standard	NM_001267782		Approved	FLJ20294, KIAA1736, WDR94, DCAF3	uc001ncv.3	Q9C0C7	OTTHUMG00000166500	ENST00000458649.2:c.1178G>A	11.37:g.46564389C>T	ENSP00000415327:p.Arg393His					AMBRA1_ENST00000533727.1_Missense_Mutation_p.R303H|AMBRA1_ENST00000314845.3_Missense_Mutation_p.R303H|AMBRA1_ENST00000528950.1_Missense_Mutation_p.R393H|AMBRA1_ENST00000426438.1_Missense_Mutation_p.R393H|AMBRA1_ENST00000298834.3_Missense_Mutation_p.R393H|AMBRA1_ENST00000534300.1_Missense_Mutation_p.R393H	p.R393H			Q9C0C7	AMRA1_HUMAN		GBM - Glioblastoma multiforme(35;0.0435)|Lung(87;0.182)	7	1596	-			393					A6XN33|D3DQP8|G3V193|Q86XD6|Q9H8Z0|Q9NXE7	Missense_Mutation	SNP	ENST00000458649.2	37	c.1178G>A		.	.	.	.	.	.	.	.	.	.	C	16.27	3.075548	0.55646	.	.	ENSG00000110497	ENST00000314845;ENST00000533727;ENST00000534300;ENST00000426438;ENST00000298834;ENST00000314823;ENST00000458649;ENST00000528950	T;T;T;T;T;T;T	0.73047	-0.55;-0.71;-0.33;-0.45;-0.33;-0.47;-0.45	5.85	5.85	0.93711	.	0.174333	0.49916	D	0.000129	T	0.78566	0.4303	L	0.29908	0.895	0.49582	D	0.999803	D;D;D;D;D;D	0.89917	0.998;0.999;0.999;0.999;1.0;0.999	P;D;D;D;D;D	0.79784	0.77;0.989;0.989;0.989;0.993;0.989	T	0.80072	-0.1535	10	0.87932	D	0	.	19.7493	0.96261	0.0:1.0:0.0:0.0	.	393;393;393;303;303;303	Q9C0C7;Q9C0C7-3;Q9C0C7-2;G3V193;Q9C0C7-5;Q9C0C7-4	AMRA1_HUMAN;.;.;.;.;.	H	303;303;393;393;393;303;393;393	ENSP00000318313:R303H;ENSP00000433372:R303H;ENSP00000431926:R393H;ENSP00000410899:R393H;ENSP00000298834:R393H;ENSP00000415327:R393H;ENSP00000433945:R393H	ENSP00000298834:R393H	R	-	2	0	AMBRA1	46520965	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	5.335000	0.65929	2.767000	0.95098	0.563000	0.77884	CGC		0.607	AMBRA1-005	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000390103.1	NM_017749		16	35	0	0	0	1	0	16	35					T	46564389	C	T	46564389	3	4	435	1	0	0	0	0	1	0	0	0	565	768	27	1	2766	1	AMBRA1	11	46564389	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	157318	46564389	88442127	5107	26032											
HARBI1	283254	broad.mit.edu	37	chr11	46637658	46637658	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caccaagtaataaatgaactGccgtggaaacccatacatgg	16	7	8	10	1	0	1	0	1	0	0	0	2	0	2	3	2	4	1	3	2	7	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:46637658G>A	ENST00000326737.3	-	2	377	c.130C>T	c.(130-132)Cag>Tag	p.Q44*	ATG13_ENST00000530500.1_5'Flank|ATG13_ENST00000526508.1_5'Flank|ATG13_ENST00000529655.1_5'Flank|ATG13_ENST00000451945.1_5'Flank|ATG13_ENST00000524625.1_5'Flank|ATG13_ENST00000434074.1_5'Flank|ATG13_ENST00000359513.4_5'Flank|ATG13_ENST00000312040.4_5'Flank|ATG13_ENST00000528494.1_5'Flank	NM_173811.3	NP_776172.1	Q96MB7	HARB1_HUMAN	harbinger transposase derived 1	44						centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nuclease activity (GO:0004518)			large_intestine(1)|prostate(1)|upper_aerodigestive_tract(1)	3						TAAATGAACTGCCGTGGAAAC	0.493																																						ENST00000326737.3																			0				large_intestine(1)|prostate(1)|upper_aerodigestive_tract(1)	3						c.(130-132)Cag>Tag		harbinger transposase derived 1							63	61	62					11																	46637658		2201	4299	6500	SO:0001587	stop_gained	283254					cytoplasm|nucleus	metal ion binding|nuclease activity	g.chr11:46637658G>A	AK057237	CCDS7920.1	11p11.2	2008-07-10	2008-07-01	2008-07-01	ENSG00000180423	ENSG00000180423			26522	protein-coding gene	gene with protein product		615086	"chromosome 11 open reading frame 77"	C11orf77		15169610, 18339812	Standard	NM_173811		Approved	FLJ32675	uc001ncy.3	Q96MB7	OTTHUMG00000166537	ENST00000326737.3:c.130C>T	11.37:g.46637658G>A	ENSP00000317743:p.Gln44*						p.Q44*	NM_173811.3	NP_776172.1	Q96MB7	HARB1_HUMAN			2	377	-			44					D3DQP9	Nonsense_Mutation	SNP	ENST00000326737.3	37	c.130C>T	CCDS7920.1	.	.	.	.	.	.	.	.	.	.	G	33	5.215375	0.95104	.	.	ENSG00000180423	ENST00000326737;ENST00000529192	.	.	.	5.07	4.09	0.47781	.	0.327160	0.36591	N	0.002505	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.09590	T	0.72	-8.1184	15.2701	0.73693	0.0:0.1405:0.8595:0.0	.	.	.	.	X	44	.	ENSP00000317743:Q44X	Q	-	1	0	HARBI1	46594234	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	3.899000	0.56288	2.534000	0.85438	0.655000	0.94253	CAG		0.493	HARBI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390291.1	NM_173811		23	30	0	0	0	1	0	23	30					A	46637658	G	A	46637658	4	1	435	1	0	0	0	0	0	1	0	0	6958	1328	46	3	927	3	HARBI1	11	46637658	Nonsense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	73269	46637658	88368858	5108	26033											
ARHGAP1	392	broad.mit.edu	37	chr11	46703689	46703689	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggtgcagatacagaagtgTgtagtcactctccacgtact	10	11	11	9	1	2	2	1	0	1	2	3	2	2	2	1	1	3	3	1	1	4	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:46703689T>C	ENST00000311956.4	-	5	458	c.361A>G	c.(361-363)Aca>Gca	p.T121A		NM_004308.3	NP_004299.1	Q07960	RHG01_HUMAN	Rho GTPase activating protein 1	121	CRAL-TRIO. {ECO:0000255|PROSITE- ProRule:PRU00056}.				positive regulation of signal transduction (GO:0009967)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	Rac GTPase activator activity (GO:0030675)|Rho GTPase activator activity (GO:0005100)|SH3/SH2 adaptor activity (GO:0005070)			endometrium(1)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	11		Lung NSC(402;1.76e-12)|all_lung(304;1.3e-11)		GBM - Glioblastoma multiforme(35;5.17e-06)|BRCA - Breast invasive adenocarcinoma(625;0.00112)|Lung(87;0.153)		TACAGAAGTGTGTAGTCACTC	0.622																																						ENST00000311956.4																			0				endometrium(1)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	11						c.(361-363)Aca>Gca		Rho GTPase activating protein 1							253	196	216					11																	46703689		2201	4299	6500	SO:0001583	missense	392				Rho protein signal transduction	cytosol|intracellular membrane-bounded organelle	SH3 domain binding|SH3/SH2 adaptor activity	g.chr11:46703689T>C	BC018118	CCDS7922.1	11p11.2	2006-04-11			ENSG00000175220	ENSG00000175220		"Rho GTPase activating proteins"	673	protein-coding gene	gene with protein product		602732				8288572	Standard	NM_004308		Approved	RhoGAP, p50rhoGAP, CDC42GAP, Cdc42GAP	uc001ndd.4	Q07960	OTTHUMG00000166567	ENST00000311956.4:c.361A>G	11.37:g.46703689T>C	ENSP00000310491:p.Thr121Ala						p.T121A	NM_004308.2	NP_004299.1	Q07960	RHG01_HUMAN		GBM - Glioblastoma multiforme(35;5.17e-06)|BRCA - Breast invasive adenocarcinoma(625;0.00112)|Lung(87;0.153)	5	458	-		Lung NSC(402;1.76e-12)|all_lung(304;1.3e-11)	121			CRAL-TRIO.		D3DQQ6	Missense_Mutation	SNP	ENST00000311956.4	37	c.361A>G	CCDS7922.1	.	.	.	.	.	.	.	.	.	.	T	19.73	3.882152	0.72294	.	.	ENSG00000175220	ENST00000311956;ENST00000443332;ENST00000525488	T;T	0.64085	-0.08;-0.08	5.1	5.1	0.69264	Cellular retinaldehyde-binding/triple function, C-terminal (4);	0.000000	0.85682	D	0.000000	T	0.79981	0.4540	M	0.86953	2.85	0.80722	D	1	D	0.56287	0.975	P	0.62184	0.899	D	0.83894	0.0286	10	0.66056	D	0.02	.	14.8786	0.70513	0.0:0.0:0.0:1.0	.	121	Q07960	RHG01_HUMAN	A	121	ENSP00000310491:T121A;ENSP00000432794:T121A	ENSP00000310491:T121A	T	-	1	0	ARHGAP1	46660265	1.000000	0.71417	0.993000	0.49108	0.233000	0.25261	8.008000	0.88588	1.917000	0.55516	0.402000	0.26972	ACA		0.622	ARHGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390472.1	NM_004308		34	53	0	0	0	1	0	34	53					C	46703689	T	C	46703689	3	2	435	1	0	0	0	0	1	0	0	0	861	1696	59	4	994	4	ARHGAP1	11	46703689	Missense_Mutation	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	66031	46703689	88302827	5109	26034											
ZNF408	79797	broad.mit.edu	37	chr11	46724280	46724280	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcattaggcccatggggagaCgtgtgtgcctgtgagcagag	8	9	16	8	1	1	3	1	1	0	2	1	4	1	3	2	3	2	1	2	3	1	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:46724280C>T	ENST00000311764.2	+	3	587	c.357C>T	c.(355-357)gaC>gaT	p.D119D	ARHGAP1_ENST00000311956.4_5'Flank	NM_001184751.1|NM_024741.2	NP_001171680.1|NP_079017.1	Q9H9D4	ZN408_HUMAN	zinc finger protein 408	119					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						CATGGGGAGACGTGTGTGCCT	0.473																																					Pancreas(79;698 1390 6545 18745 34127)|Esophageal Squamous(120;1014 1625 12837 24601 49525)	ENST00000311764.2																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(355-357)gaC>gaT		zinc finger protein 408							259	248	252					11																	46724280		2201	4299	6500	SO:0001819	synonymous_variant	79797				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|identical protein binding|zinc ion binding	g.chr11:46724280C>T	AF346626	CCDS7923.1	11p11.2	2008-02-05			ENSG00000175213	ENSG00000175213		"Zinc fingers, C2H2-type"	20041	protein-coding gene	gene with protein product						15231747	Standard	NM_024741		Approved	FLJ12827	uc010rgw.2	Q9H9D4	OTTHUMG00000166568	ENST00000311764.2:c.357C>T	11.37:g.46724280C>T							p.D119D	NM_001184751.1|NM_024741.2	NP_001171680.1|NP_079017.1	Q9H9D4	ZN408_HUMAN			3	587	+			119						Silent	SNP	ENST00000311764.2	37	c.357C>T	CCDS7923.1																																																																																				0.473	ZNF408-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390485.2	NM_024741		35	64	0	0	0	1	0	35	64					T	46724280	C	T	46724280	2	4	435	1	0	0	0	0	0	0	0	1	17885	535	19	1		1	ZNF408	11	46724280	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	20591	46724280	88282236	5110	26035											
ZNF408	79797	broad.mit.edu	37	chr11	46727177	46727177	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcccaccctctgtgccttctGctgcttctgagcccactgtg	3	12	9	17	0	3	1	0	1	3	0	3	1	3	1	4	0	4	2	4	0	0	2	rs193206095		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:46727177G>T	ENST00000311764.2	+	5	2157	c.1927G>T	c.(1927-1929)Gct>Tct	p.A643S		NM_001184751.1|NM_024741.2	NP_001171680.1|NP_079017.1	Q9H9D4	ZN408_HUMAN	zinc finger protein 408	643					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						TGTGCCTTCTGCTGCTTCTGA	0.642																																					Pancreas(79;698 1390 6545 18745 34127)|Esophageal Squamous(120;1014 1625 12837 24601 49525)	ENST00000311764.2																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(1927-1929)Gct>Tct		zinc finger protein 408							46	41	43					11																	46727177		2201	4299	6500	SO:0001583	missense	79797				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|identical protein binding|zinc ion binding	g.chr11:46727177G>T	AF346626	CCDS7923.1	11p11.2	2008-02-05			ENSG00000175213	ENSG00000175213		"Zinc fingers, C2H2-type"	20041	protein-coding gene	gene with protein product						15231747	Standard	NM_024741		Approved	FLJ12827	uc010rgw.2	Q9H9D4	OTTHUMG00000166568	ENST00000311764.2:c.1927G>T	11.37:g.46727177G>T	ENSP00000309606:p.Ala643Ser						p.A643S	NM_001184751.1|NM_024741.2	NP_001171680.1|NP_079017.1	Q9H9D4	ZN408_HUMAN			5	2157	+			643						Missense_Mutation	SNP	ENST00000311764.2	37	c.1927G>T	CCDS7923.1	.	.	.	.	.	.	.	.	.	.	G	17.38	3.376073	0.61735	.	.	ENSG00000175213	ENST00000311764	T	0.10382	2.88	4.38	1.34	0.21922	.	0.178051	0.27117	N	0.020843	T	0.06690	0.0171	L	0.34521	1.04	0.09310	N	1	P;B	0.38473	0.633;0.147	B;B	0.33846	0.171;0.035	T	0.33214	-0.9877	10	0.30854	T	0.27	-9.903	7.6901	0.28563	0.0932:0.3185:0.5883:0.0	.	635;643	B4DXY4;Q9H9D4	.;ZN408_HUMAN	S	643	ENSP00000309606:A643S	ENSP00000309606:A643S	A	+	1	0	ZNF408	46683753	.	.	0.045000	0.18777	0.879000	0.50718	.	.	0.546000	0.28920	-0.312000	0.09012	GCT		0.642	ZNF408-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390485.2	NM_024741		9	24	1	0	3.86212e-05	1	3.97146e-05	9	24					T	46727177	G	T	46727177	3	4	435	1	0	0	0	0	1	0	0	0	17885	1319	46	5	1977	5	ZNF408	11	46727177	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	2897	46727177	88279339	5111	26036											
F2	2147	broad.mit.edu	37	chr11	46744817	46744817	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtgccagctatggaggagtcGctacccacataagcctgagt	10	8	12	11	1	0	1	0	1	0	0	1	3	0	3	3	2	4	2	3	2	3	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:46744817G>A	ENST00000311907.5	+	5	460	c.404G>A	c.(403-405)cGc>cAc	p.R135H	F2_ENST00000530231.1_Missense_Mutation_p.R135H	NM_000506.3	NP_000497.1	P00734	THRB_HUMAN	coagulation factor II (thrombin)	135	Kringle 1. {ECO:0000255|PROSITE- ProRule:PRU00121}.				acute-phase response (GO:0006953)|blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell surface receptor signaling pathway (GO:0007166)|cellular protein metabolic process (GO:0044267)|cytosolic calcium ion homeostasis (GO:0051480)|fibrinolysis (GO:0042730)|leukocyte migration (GO:0050900)|multicellular organismal development (GO:0007275)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of fibrinolysis (GO:0051918)|negative regulation of platelet activation (GO:0010544)|negative regulation of proteolysis (GO:0045861)|peptidyl-glutamic acid carboxylation (GO:0017187)|platelet activation (GO:0030168)|positive regulation of blood coagulation (GO:0030194)|positive regulation of cell growth (GO:0030307)|positive regulation of cell proliferation (GO:0008284)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C-activating G-protein coupled receptor signaling pathway (GO:1900738)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|post-translational protein modification (GO:0043687)|proteolysis (GO:0006508)|regulation of blood coagulation (GO:0030193)|regulation of cell shape (GO:0008360)|response to wounding (GO:0009611)	blood microparticle (GO:0072562)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|growth factor activity (GO:0008083)|receptor binding (GO:0005102)|serine-type endopeptidase activity (GO:0004252)|thrombospondin receptor activity (GO:0070053)	p.R135H(1)		endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)	27		all_lung(304;0.000414)|Lung NSC(402;0.0011)		BRCA - Breast invasive adenocarcinoma(625;0.146)	Antihemophilic Factor(DB00025)|Argatroban(DB00278)|ART-123(DB05777)|Bivalirudin(DB00006)|Coagulation Factor IX(DB00100)|Dabigatran etexilate(DB06695)|Drotrecogin alfa(DB00055)|Lepirudin(DB00001)|Menadione(DB00170)|Proflavine(DB01123)|Suramin(DB04786)|Ximelagatran(DB04898)	TGGAGGAGTCGCTACCCACAT	0.602																																					Esophageal Squamous(147;1147 1808 2148 38609 51144)	ENST00000311907.5																			1	Substitution - Missense(1)	p.R135H(1)	endometrium(1)	endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)	27						c.(403-405)cGc>cAc		coagulation factor II (thrombin)	Antihemophilic Factor(DB00025)|Argatroban(DB00278)|Bivalirudin(DB00006)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)|Enoxaparin(DB01225)|Heparin(DB01109)|Lepirudin(DB00001)|Menadione(DB00170)|Proflavine(DB01123)|Simvastatin(DB00641)|Suramin(DB04786)|Warfarin(DB00682)|Ximelagatran(DB04898)						104	97	99					11																	46744817		2201	4299	6500	SO:0001583	missense	2147				activation of caspase activity|acute-phase response|blood coagulation, intrinsic pathway|cell surface receptor linked signaling pathway|cytosolic calcium ion homeostasis|fibrinolysis|leukocyte migration|negative regulation of astrocyte differentiation|negative regulation of fibrinolysis|negative regulation of platelet activation|negative regulation of proteolysis|peptidyl-glutamic acid carboxylation|platelet activation|positive regulation of collagen biosynthetic process|positive regulation of protein phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of release of sequestered calcium ion into cytosol|post-translational protein modification|proteolysis|STAT protein import into nucleus|tyrosine phosphorylation of STAT protein	cytosol|endoplasmic reticulum lumen|extracellular space|Golgi lumen|plasma membrane|soluble fraction	calcium ion binding|growth factor activity|serine-type endopeptidase activity|thrombospondin receptor activity	g.chr11:46744817G>A	M33031	CCDS31476.1	11p11.2	2013-02-28			ENSG00000180210	ENSG00000180210	3.4.21.5	"Endogenous ligands"	3535	protein-coding gene	gene with protein product	"prepro-coagulation factor II"	176930					Standard	NM_000506		Approved		uc001ndf.4	P00734	OTTHUMG00000150344	ENST00000311907.5:c.404G>A	11.37:g.46744817G>A	ENSP00000308541:p.Arg135His					F2_ENST00000530231.1_Missense_Mutation_p.R135H	p.R135H	NM_000506.3	NP_000497.1	P00734	THRB_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.146)	5	460	+		all_lung(304;0.000414)|Lung NSC(402;0.0011)	135			Kringle 1.		B2R7F7|B4E1A7|Q4QZ40|Q53H04|Q53H06|Q69EZ7|Q7Z7P3|Q9UCA1	Missense_Mutation	SNP	ENST00000311907.5	37	c.404G>A	CCDS31476.1	.	.	.	.	.	.	.	.	.	.	G	17.54	3.414447	0.62511	.	.	ENSG00000180210	ENST00000311907;ENST00000530231;ENST00000442468	T;T;T	0.66995	-0.24;-0.24;-0.24	5.33	4.42	0.53409	Kringle (5);Kringle-like fold (1);	0.315831	0.39020	N	0.001494	T	0.66742	0.2820	L	0.35723	1.085	0.28709	N	0.903676	D	0.69078	0.997	P	0.58873	0.847	T	0.62973	-0.6740	10	0.87932	D	0	.	6.5769	0.22571	0.3099:0.0:0.6901:0.0	.	135	P00734	THRB_HUMAN	H	135;135;125	ENSP00000308541:R135H;ENSP00000433907:R135H;ENSP00000387413:R125H	ENSP00000308541:R135H	R	+	2	0	F2	46701393	1.000000	0.71417	1.000000	0.80357	0.932000	0.56968	2.848000	0.48278	1.258000	0.44101	-0.350000	0.07774	CGC		0.602	F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317706.1			40	40	0	0	0	1	0	40	40					A	46744817	G	A	46744817	3	1	435	1	0	0	0	0	1	0	0	0	5342	1087	38	1	422	1	F2	11	46744817	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	17640	46744817	88261699	5112	26037											
CKAP5	9793	broad.mit.edu	37	chr11	46818416	46818416	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatgggtttactgctttctcGccaaccaccttcaaagcagt	10	12	7	12	1	2	0	1	0	1	0	3	0	2	0	3	1	4	3	3	1	4	4	rs138784594	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:46818416G>A	ENST00000529230.1	-	12	1459	c.1413C>T	c.(1411-1413)ggC>ggT	p.G471G	CKAP5_ENST00000532321.1_5'Flank|CKAP5_ENST00000415402.1_Silent_p.G471G|CKAP5_ENST00000312055.5_Silent_p.G471G|CKAP5_ENST00000354558.3_Silent_p.G471G			Q14008	CKAP5_HUMAN	cytoskeleton associated protein 5	471					centrosome organization (GO:0051297)|establishment or maintenance of microtubule cytoskeleton polarity (GO:0030951)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|RNA transport (GO:0050658)|spindle organization (GO:0007051)	centrosome (GO:0005813)|cytosol (GO:0005829)|membrane (GO:0016020)|protein complex (GO:0043234)|spindle pole (GO:0000922)				breast(1)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	43						CTGCTTTCTCGCCAACCACCT	0.428													G|||	3	0.000599042	0	0.0029	5008	,	,		19288	0		0.001	False		,,,				2504	0				Ovarian(4;85 273 2202 4844 13323)	ENST00000529230.1																			0				breast(1)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	43						c.(1411-1413)ggC>ggT		cytoskeleton associated protein 5							183	149	160					11																	46818416		2201	4299	6500	SO:0001819	synonymous_variant	9793				cell division|centrosome organization|establishment or maintenance of microtubule cytoskeleton polarity|G2/M transition of mitotic cell cycle|mitotic prometaphase|RNA transport|spindle organization	centrosome|cytosol	protein binding	g.chr11:46818416G>A		CCDS7924.1, CCDS31477.1	11p11.2	2006-09-20			ENSG00000175216	ENSG00000175216			28959	protein-coding gene	gene with protein product		611142				7788527, 8536682	Standard	NM_014756		Approved	ch-TOG, KIAA0097, TOG, TOGp	uc001ndi.2	Q14008	OTTHUMG00000166599	ENST00000529230.1:c.1413C>T	11.37:g.46818416G>A						CKAP5_ENST00000312055.5_Silent_p.G471G|CKAP5_ENST00000354558.3_Silent_p.G471G|CKAP5_ENST00000415402.1_Silent_p.G471G	p.G471G			Q14008	CKAP5_HUMAN			12	1459	-			471					Q05D70|Q0VAX7|Q0VAX8|Q14668|Q2TA89|Q6NSH4	Silent	SNP	ENST00000529230.1	37	c.1413C>T	CCDS31477.1																																																																																				0.428	CKAP5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390679.1	NM_014756		43	56	0	0	0	1	0	43	56					A	46818416	G	A	46818416	2	1	435	1	0	0	0	0	0	0	0	1	3445	1074	38	1		1	CKAP5	11	46818416	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	73599	46818416	88188100	5113	26038											
LRP4	4038	broad.mit.edu	37	chr11	46893139	46893139	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgccgcagtttcccattgagGtcagcactctcgatccggtc	6	11	10	14	3	2	1	1	1	1	0	6	2	4	1	3	2	2	3	3	2	0	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:46893139G>T	ENST00000378623.1	-	31	4871	c.4629C>A	c.(4627-4629)gaC>gaA	p.D1543E	LRP4-AS1_ENST00000502049.2_RNA|LRP4-AS1_ENST00000531719.1_RNA	NM_002334.3	NP_002325.2	O75096	LRP4_HUMAN	low density lipoprotein receptor-related protein 4	1543					dendrite morphogenesis (GO:0048813)|dorsal/ventral pattern formation (GO:0009953)|embryonic digit morphogenesis (GO:0042733)|endocytosis (GO:0006897)|extracellular matrix organization (GO:0030198)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|limb development (GO:0060173)|negative regulation of axonogenesis (GO:0050771)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of ossification (GO:0030279)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of presynaptic membrane organization (GO:1901631)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|protein heterotetramerization (GO:0051290)|proximal/distal pattern formation (GO:0009954)|regulation of protein phosphorylation (GO:0001932)|skeletal muscle acetylcholine-gated channel clustering (GO:0071340)|synapse organization (GO:0050808)|synaptic growth at neuromuscular junction (GO:0051124)|Wnt signaling pathway (GO:0016055)	cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|postsynaptic density (GO:0014069)|synaptic membrane (GO:0097060)	calcium ion binding (GO:0005509)|receptor tyrosine kinase binding (GO:0030971)|scaffold protein binding (GO:0097110)			breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70				Lung(87;0.159)		TCCCATTGAGGTCAGCACTCT	0.557																																						ENST00000378623.1																			0				breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70						c.(4627-4629)gaC>gaA		low density lipoprotein receptor-related protein 4							119	97	105					11																	46893139		2201	4299	6500	SO:0001583	missense	4038				endocytosis|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to membrane	calcium ion binding|receptor activity	g.chr11:46893139G>T	AB011540	CCDS31478.1	11p11.2	2013-05-29			ENSG00000134569	ENSG00000134569		"Low density lipoprotein receptors"	6696	protein-coding gene	gene with protein product		604270				9693030	Standard	NM_002334		Approved	MEGF7, CLSS, LRP-4, SOST2	uc001ndn.4	O75096	OTTHUMG00000166700	ENST00000378623.1:c.4629C>A	11.37:g.46893139G>T	ENSP00000367888:p.Asp1543Glu					LRP4-AS1_ENST00000531719.1_RNA|LRP4-AS1_ENST00000502049.2_RNA	p.D1543E	NM_002334.3	NP_002325.2	O75096	LRP4_HUMAN		Lung(87;0.159)	31	4871	-			1543					B2RN39|Q4AC85|Q5KTZ5	Missense_Mutation	SNP	ENST00000378623.1	37	c.4629C>A	CCDS31478.1	.	.	.	.	.	.	.	.	.	.	G	17.92	3.506561	0.64410	.	.	ENSG00000134569	ENST00000378623	D	0.94000	-3.33	5.81	2.97	0.34412	Six-bladed beta-propeller, TolB-like (1);	0.137576	0.53938	D	0.000060	D	0.95274	0.8467	M	0.76574	2.34	0.48696	D	0.999692	D	0.76494	0.999	D	0.80764	0.994	D	0.93136	0.6537	10	0.49607	T	0.09	.	7.5264	0.27658	0.4456:0.0:0.5544:0.0	.	1543	O75096	LRP4_HUMAN	E	1543	ENSP00000367888:D1543E	ENSP00000367888:D1543E	D	-	3	2	LRP4	46849715	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	1.635000	0.37134	0.388000	0.25054	-0.140000	0.14226	GAC		0.557	LRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391133.1	NM_002334		10	3	1	0	2.80697e-09	1	2.97546e-09	10	3					T	46893139	G	T	46893139	3	4	435	1	0	0	0	0	1	0	0	0	8959	1252	44	5	1120	5	LRP4	11	46893139	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	74723	46893139	88113377	5114	26039											
NR1H3	10062	broad.mit.edu	37	chr11	47283152	47283152	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggcccgtcagcagcgctttGcccacttcactgagctggcc	6	8	11	16	2	2	1	2	1	0	0	2	1	2	1	3	2	4	3	3	2	0	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:47283152G>A	ENST00000467728.1	+	5	2001	c.763G>A	c.(763-765)Gcc>Acc	p.A255T	NR1H3_ENST00000395397.3_Missense_Mutation_p.A210T|NR1H3_ENST00000481889.2_Missense_Mutation_p.A210T|NR1H3_ENST00000405576.1_Intron|NR1H3_ENST00000441012.2_Missense_Mutation_p.A255T|NR1H3_ENST00000407404.1_Intron|NR1H3_ENST00000527949.1_Intron|NR1H3_ENST00000529540.1_3'UTR|NR1H3_ENST00000405853.3_Intron			Q13133	NR1H3_HUMAN	nuclear receptor subfamily 1, group H, member 3	255	Ligand-binding. {ECO:0000255}.				apoptotic cell clearance (GO:0043277)|cellular lipid metabolic process (GO:0044255)|cellular response to lipopolysaccharide (GO:0071222)|cholesterol homeostasis (GO:0042632)|gene expression (GO:0010467)|lipid homeostasis (GO:0055088)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interferon-gamma-mediated signaling pathway (GO:0060336)|negative regulation of lipid transport (GO:0032369)|negative regulation of macrophage activation (GO:0043031)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|negative regulation of pancreatic juice secretion (GO:0090188)|negative regulation of pinocytosis (GO:0048550)|negative regulation of proteolysis (GO:0045861)|negative regulation of secretion of lysosomal enzymes (GO:0090341)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of cholesterol homeostasis (GO:2000189)|positive regulation of cholesterol transport (GO:0032376)|positive regulation of fatty acid biosynthetic process (GO:0045723)|positive regulation of lipoprotein lipase activity (GO:0051006)|positive regulation of receptor biosynthetic process (GO:0010870)|positive regulation of toll-like receptor 4 signaling pathway (GO:0034145)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of triglyceride biosynthetic process (GO:0010867)|regulation of cholesterol homeostasis (GO:2000188)|regulation of circadian rhythm (GO:0042752)|response to progesterone (GO:0032570)|sterol homeostasis (GO:0055092)|transcription initiation from RNA polymerase II promoter (GO:0006367)|triglyceride homeostasis (GO:0070328)	nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	cholesterol binding (GO:0015485)|DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|steroid hormone receptor activity (GO:0003707)|sterol response element binding (GO:0032810)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|ovary(5)	20						GCAGCGCTTTGCCCACTTCAC	0.587																																						ENST00000467728.1																			0				endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|ovary(5)	20						c.(763-765)Gcc>Acc		nuclear receptor subfamily 1, group H, member 3							70	69	69					11																	47283152		2201	4298	6499	SO:0001583	missense	10062				apoptotic cell clearance|cellular response to lipopolysaccharide|cholesterol homeostasis|negative regulation of cholesterol storage|negative regulation of inflammatory response|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of lipid transport|negative regulation of macrophage activation|negative regulation of pancreatic juice secretion|negative regulation of pinocytosis|negative regulation of secretion of lysosomal enzymes|negative regulation of transcription from RNA polymerase II promoter|positive regulation of cellular protein metabolic process|positive regulation of cholesterol efflux|positive regulation of cholesterol homeostasis|positive regulation of fatty acid biosynthetic process|positive regulation of lipoprotein lipase activity|positive regulation of receptor biosynthetic process|positive regulation of toll-like receptor 4 signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of triglyceride biosynthetic process|regulation of circadian rhythm|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to progesterone stimulus|triglyceride homeostasis	nuclear chromatin|nucleoplasm	cholesterol binding|steroid hormone receptor activity|sterol response element binding|transcription coactivator activity|zinc ion binding	g.chr11:47283152G>A	U22662	CCDS7929.1, CCDS44584.1, CCDS44585.1, CCDS73285.1	11p11.2	2013-01-16			ENSG00000025434	ENSG00000025434		"Nuclear hormone receptors"	7966	protein-coding gene	gene with protein product	"liver X receptor-alpha"	602423				8621574, 7744246	Standard	NM_005693		Approved	LXR-a, RLD-1	uc009ylm.3	Q13133	OTTHUMG00000150628	ENST00000467728.1:c.763G>A	11.37:g.47283152G>A	ENSP00000420656:p.Ala255Thr					NR1H3_ENST00000395397.3_Missense_Mutation_p.A210T|NR1H3_ENST00000441012.2_Missense_Mutation_p.A255T|NR1H3_ENST00000527949.1_Intron|NR1H3_ENST00000407404.1_Intron|NR1H3_ENST00000405576.1_Intron|NR1H3_ENST00000481889.2_Missense_Mutation_p.A210T|NR1H3_ENST00000529540.1_3'UTR|NR1H3_ENST00000405853.3_Intron	p.A255T			Q13133	NR1H3_HUMAN			5	2001	+			255			Ligand-binding (Potential).		A8K3J9|D3DQR1|Q8IW13|Q96H87	Missense_Mutation	SNP	ENST00000467728.1	37	c.763G>A	CCDS7929.1	.	.	.	.	.	.	.	.	.	.	G	25.8	4.674716	0.88445	.	.	ENSG00000025434	ENST00000395397;ENST00000481889;ENST00000441012;ENST00000467728	D;D;D;D	0.96651	-4.08;-4.08;-4.08;-4.08	5.77	4.86	0.63082	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (1);	0.048398	0.85682	D	0.000000	D	0.96713	0.8927	L	0.39245	1.2	0.80722	D	1	P;D;D	0.89917	0.955;0.99;1.0	P;D;D	0.81914	0.696;0.958;0.995	D	0.96408	0.9302	10	0.39692	T	0.17	.	15.2561	0.73585	0.0675:0.0:0.9325:0.0	.	261;255;210	B4DXU5;Q13133;E9PLL4	.;NR1H3_HUMAN;.	T	210;210;255;255	ENSP00000378793:A210T;ENSP00000433271:A210T;ENSP00000387946:A255T;ENSP00000420656:A255T	ENSP00000378793:A210T	A	+	1	0	NR1H3	47239728	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.476000	0.97823	1.581000	0.49865	0.655000	0.94253	GCC		0.587	NR1H3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319214.3			19	25	0	0	0	1	0	19	25					A	47283152	G	A	47283152	3	1	435	1	0	0	0	0	1	0	0	0	10618	1319	46	3	781	3	NR1H3	11	47283152	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	390013	47283152	87723364	5115	26040											
MADD	8567	broad.mit.edu	37	chr11	47308006	47308006	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agcctctatcggaaccacagTaccagcttcagtctttcaaa	12	10	6	13	1	4	0	2	0	2	0	5	1	4	1	3	1	4	2	3	1	4	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:47308006T>C	ENST00000311027.5	+	15	2739	c.2574T>C	c.(2572-2574)agT>agC	p.S858S	MADD_ENST00000402192.2_Silent_p.S858S|MADD_ENST00000406482.1_Silent_p.S815S|MADD_ENST00000402799.1_Silent_p.S815S|MADD_ENST00000342922.4_Silent_p.S858S|MADD_ENST00000395344.3_Silent_p.S815S|MADD_ENST00000407859.3_Silent_p.S815S|MADD_ENST00000349238.3_Silent_p.S858S|MADD_ENST00000395336.3_Silent_p.S858S	NM_003682.3	NP_003673.3			MAP-kinase activating death domain											breast(7)|central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(19)|lung(26)|ovary(6)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	84				Lung(87;0.182)		GGAACCACAGTACCAGCTTCA	0.507																																						ENST00000342922.4																			0				breast(7)|central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(19)|lung(26)|ovary(6)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	84						c.(2572-2574)agT>agC		MAP-kinase activating death domain							219	192	201					11																	47308006		2201	4298	6499	SO:0001819	synonymous_variant	8567				activation of MAPK activity|apoptosis|cell surface receptor linked signaling pathway|regulation of apoptosis|regulation of cell cycle	cytoplasm|integral to membrane|plasma membrane	death receptor binding|protein kinase activator activity|Rab guanyl-nucleotide exchange factor activity	g.chr11:47308006T>C	AB002356	CCDS7930.1, CCDS7931.1, CCDS7932.1, CCDS41642.1, CCDS44586.1, CCDS44587.1, CCDS44588.1, CCDS44589.1, CCDS44590.1	11p11.2	2012-10-04			ENSG00000110514	ENSG00000110514		"DENN/MADD domain containing"	6766	protein-coding gene	gene with protein product		603584				9115275, 9796103	Standard	NM_130476		Approved	DENN, KIAA0358, RAB3GEP	uc001ner.1	Q8WXG6	OTTHUMG00000150350	ENST00000311027.5:c.2574T>C	11.37:g.47308006T>C						MADD_ENST00000402192.2_Silent_p.S858S|MADD_ENST00000395336.3_Silent_p.S858S|MADD_ENST00000402799.1_Silent_p.S815S|MADD_ENST00000406482.1_Silent_p.S815S|MADD_ENST00000311027.5_Silent_p.S858S|MADD_ENST00000349238.3_Silent_p.S858S|MADD_ENST00000407859.3_Silent_p.S815S|MADD_ENST00000395344.3_Silent_p.S815S	p.S858S	NM_130470.2	NP_569826.2	Q8WXG6	MADD_HUMAN		Lung(87;0.182)	15	2931	+			858						Silent	SNP	ENST00000311027.5	37	c.2574T>C	CCDS7930.1																																																																																				0.507	MADD-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317746.1			40	52	0	0	0	1	0	40	52					C	47308006	T	C	47308006	2	2	435	1	0	0	0	0	0	0	0	1	9152	1635	57	4		4	MADD	11	47308006	Silent	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	24854	47308006	87698510	5116	26041											
MYBPC3	4607	broad.mit.edu	37	chr11	47353711	47353711	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccccgtcaaaggggcagggCtttctaatctccagagtcaa	10	8	10	13	1	4	1	2	0	2	1	5	1	4	1	3	3	0	2	3	3	3	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:47353711C>T	ENST00000545968.1	-	33	3780	c.3726G>A	c.(3724-3726)aaG>aaA	p.K1242K	MYBPC3_ENST00000399249.2_Silent_p.K1242K|MYBPC3_ENST00000256993.4_Silent_p.K1241K	NM_000256.3	NP_000247.2	Q14896	MYPC3_HUMAN	myosin binding protein C, cardiac	1242	Ig-like C2-type 7.				cardiac muscle contraction (GO:0060048)|cell adhesion (GO:0007155)|heart morphogenesis (GO:0003007)|muscle filament sliding (GO:0030049)|myosin filament assembly (GO:0031034)|positive regulation of ATPase activity (GO:0032781)|regulation of heart rate (GO:0002027)|regulation of muscle filament sliding (GO:0032971)|regulation of striated muscle contraction (GO:0006942)|sarcomere organization (GO:0045214)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	A band (GO:0031672)|C zone (GO:0014705)|cytosol (GO:0005829)|sarcomere (GO:0030017)|striated muscle myosin thick filament (GO:0005863)	ATPase activator activity (GO:0001671)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|myosin binding (GO:0017022)|myosin heavy chain binding (GO:0032036)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(4)|lung(16)|ovary(3)|prostate(3)|urinary_tract(2)	42				Lung(87;0.176)		AGGGGCAGGGCTTTCTAATCT	0.597																																						ENST00000545968.1																			0				breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(4)|lung(16)|ovary(3)|prostate(3)|urinary_tract(2)	42						c.(3724-3726)aaG>aaA		myosin binding protein C, cardiac							66	70	69					11																	47353711		1970	4154	6124	SO:0001819	synonymous_variant	4607				cardiac muscle contraction|cell adhesion|muscle filament sliding|regulation of muscle filament sliding|regulation of striated muscle contraction|ventricular cardiac muscle tissue morphogenesis	C zone|cytosol|striated muscle myosin thick filament	actin binding|ATPase activator activity|metal ion binding|myosin heavy chain binding|structural constituent of muscle|titin binding	g.chr11:47353711C>T	X84075	CCDS53621.1	11p11.2	2014-09-17	2001-11-28			ENSG00000134571		"Myosin binding proteins", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	7551	protein-coding gene	gene with protein product		600958	"myosin-binding protein C, cardiac"	CMH4		7744002, 8358441	Standard	NM_000256		Approved	MYBP-C, FHC	uc021qis.1	Q14896		ENST00000545968.1:c.3726G>A	11.37:g.47353711C>T						MYBPC3_ENST00000256993.4_Silent_p.K1241K|MYBPC3_ENST00000399249.2_Silent_p.K1242K	p.K1242K	NM_000256.3	NP_000247.2	Q14896	MYPC3_HUMAN		Lung(87;0.176)	33	3780	-			1241			Ig-like C2-type 7.		A5PL00|Q16410|Q6R2F7|Q9UE27|Q9UM53	Silent	SNP	ENST00000545968.1	37	c.3726G>A	CCDS53621.1																																																																																				0.597	MYBPC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000392271.3			29	39	0	0	0	1	0	29	39					T	47353711	C	T	47353711	2	4	435	1	0	0	0	0	0	0	0	1	10013	796	28	3		3	MYBPC3	11	47353711	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	45705	47353711	87652805	5117	26042											
SPI1	6688	broad.mit.edu	37	chr11	47376808	47376808	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gggtggcgccgctcggccagGcccccgcggcccagcacttc	3	4	15	19	5	0	0	0	0	0	0	2	0	0	0	5	5	1	2	5	5	0	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:47376808G>C	ENST00000378538.3	-	5	1005	c.783C>G	c.(781-783)ggC>ggG	p.G261G	MYBPC3_ENST00000399249.2_5'Flank|SPI1_ENST00000227163.4_Silent_p.G262G|SPI1_ENST00000533030.1_3'UTR|MYBPC3_ENST00000545968.1_5'Flank|MYBPC3_ENST00000256993.4_5'Flank	NM_001080547.1|NM_003120.2	NP_001074016.1|NP_003111.2	P17947	SPI1_HUMAN	Spi-1 proto-oncogene	261					anatomical structure regression (GO:0060033)|apoptotic process involved in patterning of blood vessels (GO:1902262)|erythrocyte differentiation (GO:0030218)|granulocyte differentiation (GO:0030851)|histone H3 acetylation (GO:0043966)|hypermethylation of CpG island (GO:0044027)|lymphocyte differentiation (GO:0030098)|lymphoid progenitor cell differentiation (GO:0002320)|macrophage differentiation (GO:0030225)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of gene expression, epigenetic (GO:0045814)|negative regulation of histone H4 acetylation (GO:0090241)|negative regulation of MHC class II biosynthetic process (GO:0045347)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of erythrocyte differentiation (GO:0045646)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|somatic stem cell maintenance (GO:0035019)	nuclear chromatin (GO:0000790)	core promoter binding (GO:0001047)|NFAT protein binding (GO:0051525)|RNA binding (GO:0003723)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|large_intestine(2)|lung(4)|ovary(1)	8				Lung(87;0.0967)		GCTCGGCCAGGCCCCCGCGGC	0.736																																						ENST00000378538.3																			0				central_nervous_system(1)|large_intestine(2)|lung(4)|ovary(1)	8						c.(781-783)ggC>ggG		spleen focus forming virus (SFFV) proviral integration oncogene							25	22	23					11																	47376808		2169	4250	6419	SO:0001819	synonymous_variant	6688				negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|regulation of erythrocyte differentiation	nucleus	protein binding|RNA binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr11:47376808G>C	X52056	CCDS7933.2, CCDS44591.1	11p12-p11.22	2014-06-25	2014-06-25		ENSG00000066336	ENSG00000066336			11241	protein-coding gene	gene with protein product	"hematopoietic transcription factor PU.1", "31 kDa transforming protein"	165170	"spleen focus forming virus (SFFV) proviral integration oncogene"			1693183	Standard	NM_003120		Approved	PU.1, SPI-A, OF, SFPI1, SPI-1	uc001nfb.1	P17947	OTTHUMG00000150150	ENST00000378538.3:c.783C>G	11.37:g.47376808G>C						SPI1_ENST00000227163.4_Silent_p.G262G|SPI1_ENST00000533030.1_3'UTR	p.G261G	NM_001080547.1|NM_003120.2	NP_001074016.1|NP_003111.2	P17947	SPI1_HUMAN		Lung(87;0.0967)	5	1005	-			261						Silent	SNP	ENST00000378538.3	37	c.783C>G	CCDS7933.2																																																																																				0.736	SPI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316571.1	NM_003120		2	3	0	0	0	1	0	2	3					C	47376808	G	C	47376808	2	2	435	1	0	0	0	0	0	0	0	1	15048	1190	42	5		5	SPI1	11	47376808	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	23097	47376808	87629708	5118	26043											
CELF1	10658	broad.mit.edu	37	chr11	47505049	47505049	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tgccttgatagccgtctgtgCcatggctcttgttgtaaaag	7	14	11	9	1	2	1	0	1	2	0	2	1	2	1	3	1	3	3	3	1	3	5	rs187138759	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:47505049C>T	ENST00000358597.3	-	5	480	c.481G>A	c.(481-483)Gca>Aca	p.A161T	CELF1_ENST00000361904.3_Missense_Mutation_p.A161T|AC090559.1_ENST00000578625.1_RNA|CELF1_ENST00000310513.5_Missense_Mutation_p.A161T|CELF1_ENST00000395292.2_Missense_Mutation_p.A161T|CELF1_ENST00000395290.2_Missense_Mutation_p.A160T|CELF1_ENST00000532048.1_Missense_Mutation_p.A187T|CELF1_ENST00000531165.1_Missense_Mutation_p.A188T			Q92879	CELF1_HUMAN	CUGBP, Elav-like family member 1	161	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				embryo development (GO:0009790)|germ cell development (GO:0007281)|mRNA processing (GO:0006397)|mRNA splice site selection (GO:0006376)|negative regulation of translation (GO:0017148)|positive regulation of multicellular organism growth (GO:0040018)|regulation of RNA splicing (GO:0043484)|RNA interference (GO:0016246)|spermatid development (GO:0007286)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	BRE binding (GO:0042835)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|translation repressor activity, nucleic acid binding (GO:0000900)			central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|ovary(2)	18						GCCGTCTGTGCCATGGCTCTT	0.458																																					Pancreas(163;1949 1966 9906 43218 43785)	ENST00000395290.2																			0				central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|ovary(2)	18						c.(478-480)Gca>Aca		CUGBP, Elav-like family member 1							299	242	261					11																	47505049		2201	4298	6499	SO:0001583	missense	10658				embryo development|mRNA splice site selection|regulation of RNA splicing|RNA interference	cytoplasm|nucleus|ribonucleoprotein complex	BRE binding|mRNA binding|nucleotide binding|translation repressor activity, nucleic acid binding	g.chr11:47505049C>T	U63289	CCDS7938.1, CCDS7939.1, CCDS31482.1, CCDS53622.1, CCDS53623.1	11p11	2013-02-12	2010-02-19	2010-02-19				"RNA binding motif (RRM) containing"	2549	protein-coding gene	gene with protein product	"CUG RNA-binding protein", "nuclear polyadenylated RNA-binding protein, 50-kD", "bruno-like 2", "embryo deadenylation element binding protein"	601074	"CUG triplet repeat, RNA-binding protein 1", "CUG triplet repeat, RNA binding protein 1"	CUGBP1		8948631, 9371827	Standard	NM_006560		Approved	CUG-BP, hNab50, BRUNOL2, NAB50, CUGBP, NAPOR, EDEN-BP	uc001nfl.3	Q92879		ENST00000358597.3:c.481G>A	11.37:g.47505049C>T	ENSP00000351409:p.Ala161Thr					CELF1_ENST00000361904.3_Missense_Mutation_p.A161T|CELF1_ENST00000310513.5_Missense_Mutation_p.A161T|CELF1_ENST00000532048.1_Missense_Mutation_p.A187T|CELF1_ENST00000531165.1_Missense_Mutation_p.A188T|CELF1_ENST00000358597.3_Missense_Mutation_p.A161T|CELF1_ENST00000395292.2_Missense_Mutation_p.A161T	p.A160T	NM_001025596.2|NM_001172640.1	NP_001020767.1|NP_001166111.1	Q92879	CELF1_HUMAN			5	487	-			161			RRM 2.		B4E2U5|D3DQS0|F8W940|Q4LE52|Q9NP83|Q9NR06	Missense_Mutation	SNP	ENST00000358597.3	37	c.478G>A	CCDS31482.1	.	.	.	.	.	.	.	.	.	.	c	21.9	4.215377	0.79352	.	.	ENSG00000149187	ENST00000395290;ENST00000358597;ENST00000395292;ENST00000310513;ENST00000361904;ENST00000531165;ENST00000532048	T;T;T;T;T;T;T	0.30714	1.52;1.52;1.52;1.52;1.52;1.52;1.52	4.93	4.01	0.46588	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	T	0.49389	0.1554	M	0.87038	2.855	0.80722	D	1	P;P;B;B;P;B	0.51449	0.759;0.945;0.265;0.265;0.945;0.311	B;P;B;B;P;B	0.49387	0.277;0.609;0.045;0.045;0.609;0.075	T	0.62144	-0.6916	10	0.87932	D	0	-6.8738	14.6449	0.68754	0.1465:0.8535:0.0:0.0	.	160;188;187;161;161;161	F8W940;G5EA30;Q92879-4;Q92879-2;Q92879-3;Q92879	.;.;.;.;.;CELF1_HUMAN	T	160;161;161;161;161;188;187	ENSP00000378705:A160T;ENSP00000351409:A161T;ENSP00000378706:A161T;ENSP00000308386:A161T;ENSP00000354639:A161T;ENSP00000436864:A188T;ENSP00000435926:A187T	ENSP00000308386:A161T	A	-	1	0	CELF1	47461625	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.741000	0.84997	1.070000	0.40811	0.552000	0.68991	GCA		0.458	CELF1-024	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000398352.1	NM_006560		5	125	0	0	0	1	0	5	125					T	47505049	C	T	47505049	3	4	435	1	0	0	0	0	1	0	0	0	3215	739	26	3	1014	3	CELF1	11	47505049	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	128241	47505049	87501467	5119	26044											
KBTBD4	55709	broad.mit.edu	37	chr11	47599542	47599542	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggatgctccaggctcctctgGtgattccatgctagccaact	7	11	10	13	0	1	1	0	1	1	0	4	2	4	2	4	3	4	3	4	3	2	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:47599542G>A	ENST00000526005.1	-	2	163	c.10C>T	c.(10-12)Cca>Tca	p.P4S	KBTBD4_ENST00000525720.1_Missense_Mutation_p.P53S|KBTBD4_ENST00000533290.1_Missense_Mutation_p.P29S|NDUFS3_ENST00000534716.2_5'Flank|KBTBD4_ENST00000430070.2_Missense_Mutation_p.P20S|KBTBD4_ENST00000395288.2_Missense_Mutation_p.P4S|NDUFS3_ENST00000528192.1_5'Flank|NDUFS3_ENST00000263774.4_5'Flank|KBTBD4_ENST00000450908.1_3'UTR|NDUFS3_ENST00000529276.1_5'Flank|RNU5E-10P_ENST00000363506.1_RNA|NDUFS3_ENST00000534208.1_5'Flank|NDUFS3_ENST00000533507.1_Intron			Q9NVX7	KBTB4_HUMAN	kelch repeat and BTB (POZ) domain containing 4	4										NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	24						GGCTCCTCTGGTGATTCCATG	0.478																																						ENST00000533290.1																			0				NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	24						c.(85-87)Cca>Tca		kelch repeat and BTB (POZ) domain containing 4							65	64	64					11																	47599542		2201	4298	6499	SO:0001583	missense	55709							g.chr11:47599542G>A	AF151086	CCDS7940.1, CCDS44594.1	11p11.2	2013-01-08	2003-12-12	2003-12-17	ENSG00000123444	ENSG00000123444		"BTB/POZ domain containing"	23761	protein-coding gene	gene with protein product			"BTB and kelch domain containing 4"	BKLHD4		11042152	Standard	NM_018095		Approved	FLJ10450, HSPC252	uc001nfz.3	Q9NVX7	OTTHUMG00000166894	ENST00000526005.1:c.10C>T	11.37:g.47599542G>A	ENSP00000433340:p.Pro4Ser					NDUFS3_ENST00000533507.1_Intron|KBTBD4_ENST00000526005.1_Missense_Mutation_p.P4S|KBTBD4_ENST00000450908.1_3'UTR|KBTBD4_ENST00000395288.2_Missense_Mutation_p.P4S|KBTBD4_ENST00000430070.2_Missense_Mutation_p.P20S|KBTBD4_ENST00000525720.1_Missense_Mutation_p.P53S	p.P29S			Q9NVX7	KBTB4_HUMAN			1	799	-			4					D3DQS1|D3DQS2|Q6IA85|Q9BUC3|Q9NV76	Missense_Mutation	SNP	ENST00000526005.1	37	c.85C>T	CCDS7940.1	.	.	.	.	.	.	.	.	.	.	G	11.78	1.740815	0.30865	.	.	ENSG00000123444	ENST00000526005;ENST00000533290;ENST00000395288;ENST00000359900;ENST00000430070;ENST00000525720;ENST00000529499;ENST00000531067;ENST00000529946;ENST00000534239	T;T;T;T;T;T;T;T;T	0.75589	-0.48;-0.54;-0.48;-0.55;-0.43;-0.57;-0.94;-0.95;-0.79	5.13	5.13	0.70059	.	0.365044	0.32081	N	0.006604	T	0.49830	0.1580	N	0.04508	-0.205	0.31396	N	0.677191	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.0;0.0	T	0.50575	-0.8812	10	0.25751	T	0.34	-11.8572	9.4268	0.38586	0.1666:0.0:0.8334:0.0	.	20;4;29	Q9NVX7-2;Q9NVX7;B3KRH9	.;KBTB4_HUMAN;.	S	4;29;4;20;20;53;4;4;4;29	ENSP00000433340:P4S;ENSP00000436713:P29S;ENSP00000378703:P4S;ENSP00000415106:P20S;ENSP00000434477:P53S;ENSP00000433404:P4S;ENSP00000433653:P4S;ENSP00000435651:P4S;ENSP00000433124:P29S	ENSP00000352971:P20S	P	-	1	0	KBTBD4	47556118	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	2.605000	0.46283	2.532000	0.85374	0.561000	0.74099	CCA		0.478	KBTBD4-003	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000391763.1	NM_016506		23	27	0	0	0	1	0	23	27					A	47599542	G	A	47599542	3	1	435	1	0	0	0	0	1	0	0	0	7995	1261	44	3	1558	3	KBTBD4	11	47599542	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	94493	47599542	87406974	5120	26045											
NDUFS3	4722	broad.mit.edu	37	chr11	47603682	47603682	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcgcttcaactcacggatcCgtgtgaagacctacacagat	11	9	9	12	3	2	3	2	1	0	2	3	4	3	4	2	1	3	1	2	1	3	2	rs146407178		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:47603682C>T	ENST00000263774.4	+	5	506	c.424C>T	c.(424-426)Cgt>Tgt	p.R142C	NDUFS3_ENST00000533507.1_3'UTR	NM_004551.2	NP_004542.1	O75489	NDUS3_HUMAN	NADH dehydrogenase (ubiquinone) Fe-S protein 3, 30kDa (NADH-coenzyme Q reductase)	142					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|negative regulation of cell growth (GO:0030308)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|reactive oxygen species metabolic process (GO:0072593)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)|substantia nigra development (GO:0021762)	mitochondrial inner membrane (GO:0005743)|mitochondrial membrane (GO:0031966)|mitochondrial respiratory chain complex I (GO:0005747)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	electron carrier activity (GO:0009055)|NADH dehydrogenase (ubiquinone) activity (GO:0008137)|NADH dehydrogenase activity (GO:0003954)	p.R142C(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(2)	9					Doxorubicin(DB00997)	CTCACGGATCCGTGTGAAGAC	0.517																																					Pancreas(15;551 601 22438 23457 52512)	ENST00000263774.4																			1	Substitution - Missense(1)	p.R142C(1)	large_intestine(1)	breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(2)	9						c.(424-426)Cgt>Tgt		NADH dehydrogenase (ubiquinone) Fe-S protein 3, 30kDa (NADH-coenzyme Q reductase)	NADH(DB00157)	C	CYS/ARG	0,4402		0,0,2201	175	161	166		424	5.2	1	11	dbSNP_134	166	1,8595	1.2+/-3.3	0,1,4297	no	missense	NDUFS3	NM_004551.2	180	0,1,6498	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	142/265	47603682	1,12997	2201	4298	6499	SO:0001583	missense	4722				induction of apoptosis|mitochondrial electron transport, NADH to ubiquinone|negative regulation of cell growth|reactive oxygen species metabolic process|transport	mitochondrial respiratory chain complex I	electron carrier activity|NADH dehydrogenase (ubiquinone) activity|protein binding	g.chr11:47603682C>T	AF067139	CCDS7941.1	11p11.11	2011-08-03	2002-08-29		ENSG00000213619	ENSG00000213619	1.6.5.3	"Mitochondrial respiratory chain complex / Complex I"	7710	protein-coding gene	gene with protein product	"complex I 30kDa subunit", "NADH dehydrogenase [ubiquinone] iron-sulfur protein 3, mitochondrial"	603846	"NADH dehydrogenase (ubiquinone) Fe-S protein 3 (30kD) (NADH-coenzyme Q reductase)"			9763677	Standard	NM_004551		Approved	CI-30	uc001nga.2	O75489	OTTHUMG00000166893	ENST00000263774.4:c.424C>T	11.37:g.47603682C>T	ENSP00000263774:p.Arg142Cys					NDUFS3_ENST00000533507.1_3'UTR	p.R142C	NM_004551.2	NP_004542.1	O75489	NDUS3_HUMAN			5	506	+			142					B2R9J1|B4DFM8|Q9UNQ8	Missense_Mutation	SNP	ENST00000263774.4	37	c.424C>T	CCDS7941.1	.	.	.	.	.	.	.	.	.	.	C	28.3	4.912382	0.92178	0.0	1.16E-4	ENSG00000213619	ENST00000263774	D	0.87256	-2.23	6.08	5.17	0.71159	NADH:ubiquinone oxidoreductase, 30kDa subunit (2);	0.044975	0.85682	D	0.000000	D	0.92808	0.7713	M	0.93062	3.375	0.80722	D	1	P;D	0.56968	0.947;0.978	P;P	0.51453	0.529;0.67	D	0.94308	0.7543	10	0.87932	D	0	-17.7513	15.3227	0.74135	0.0:0.9332:0.0:0.0668	.	142;68	O75489;Q9UF24	NDUS3_HUMAN;.	C	142	ENSP00000263774:R142C	ENSP00000263774:R142C	R	+	1	0	NDUFS3	47560258	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.265000	0.78442	1.580000	0.49851	0.655000	0.94253	CGT		0.517	NDUFS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391749.1	NM_004551		29	43	0	0	0	1	0	29	43					T	47603682	C	T	47603682	3	4	435	1	0	0	0	0	1	0	0	0	10293	652	23	2	442	2	NDUFS3	11	47603682	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	4140	47603682	87402834	5121	26046											
NDUFS3	4722	broad.mit.edu	37	chr11	47606018	47606018	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgaagccggagacaagaaGcctgatgccaagtagctcca	13	6	11	11	1	0	4	0	2	0	2	1	5	1	4	4	1	4	2	4	1	5	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:47606018G>A	ENST00000263774.4	+	7	862	c.780G>A	c.(778-780)aaG>aaA	p.K260K	FAM180B_ENST00000538490.1_5'Flank|FAM180B_ENST00000356737.2_5'Flank|NDUFS3_ENST00000533507.1_3'UTR	NM_004551.2	NP_004542.1	O75489	NDUS3_HUMAN	NADH dehydrogenase (ubiquinone) Fe-S protein 3, 30kDa (NADH-coenzyme Q reductase)	260					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|negative regulation of cell growth (GO:0030308)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|reactive oxygen species metabolic process (GO:0072593)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)|substantia nigra development (GO:0021762)	mitochondrial inner membrane (GO:0005743)|mitochondrial membrane (GO:0031966)|mitochondrial respiratory chain complex I (GO:0005747)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	electron carrier activity (GO:0009055)|NADH dehydrogenase (ubiquinone) activity (GO:0008137)|NADH dehydrogenase activity (GO:0003954)			breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(2)	9					Doxorubicin(DB00997)	GAGACAAGAAGCCTGATGCCA	0.512																																					Pancreas(15;551 601 22438 23457 52512)	ENST00000263774.4																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(2)	9						c.(778-780)aaG>aaA		NADH dehydrogenase (ubiquinone) Fe-S protein 3, 30kDa (NADH-coenzyme Q reductase)	NADH(DB00157)						114	114	114					11																	47606018		2201	4298	6499	SO:0001819	synonymous_variant	4722				induction of apoptosis|mitochondrial electron transport, NADH to ubiquinone|negative regulation of cell growth|reactive oxygen species metabolic process|transport	mitochondrial respiratory chain complex I	electron carrier activity|NADH dehydrogenase (ubiquinone) activity|protein binding	g.chr11:47606018G>A	AF067139	CCDS7941.1	11p11.11	2011-08-03	2002-08-29		ENSG00000213619	ENSG00000213619	1.6.5.3	"Mitochondrial respiratory chain complex / Complex I"	7710	protein-coding gene	gene with protein product	"complex I 30kDa subunit", "NADH dehydrogenase [ubiquinone] iron-sulfur protein 3, mitochondrial"	603846	"NADH dehydrogenase (ubiquinone) Fe-S protein 3 (30kD) (NADH-coenzyme Q reductase)"			9763677	Standard	NM_004551		Approved	CI-30	uc001nga.2	O75489	OTTHUMG00000166893	ENST00000263774.4:c.780G>A	11.37:g.47606018G>A						NDUFS3_ENST00000533507.1_3'UTR	p.K260K	NM_004551.2	NP_004542.1	O75489	NDUS3_HUMAN			7	862	+			260					B2R9J1|B4DFM8|Q9UNQ8	Silent	SNP	ENST00000263774.4	37	c.780G>A	CCDS7941.1																																																																																				0.512	NDUFS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391749.1	NM_004551		9	78	0	0	0	1	0	9	78					A	47606018	G	A	47606018	2	1	435	1	0	0	0	0	0	0	0	1	10293	962	34	3		3	NDUFS3	11	47606018	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	2336	47606018	87400498	5122	26047											
PTPRJ	5795	broad.mit.edu	37	chr11	48145237	48145237	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tgctctctcctggagcaatgGcaatggcactgcctcctgcc	6	10	10	15	0	1	0	0	0	1	0	4	1	3	1	4	3	4	4	4	3	2	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:48145237G>A	ENST00000418331.2	+	5	1041	c.689G>A	c.(688-690)gGc>gAc	p.G230D	PTPRJ_ENST00000440289.2_Missense_Mutation_p.G230D	NM_002843.3	NP_002834.3	Q12913	PTPRJ_HUMAN	protein tyrosine phosphatase, receptor type, J	230	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				contact inhibition (GO:0060242)|heart development (GO:0007507)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of platelet-derived growth factor receptor signaling pathway (GO:0010642)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of T cell receptor signaling pathway (GO:0050860)|negative regulation of vascular permeability (GO:0043116)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine dephosphorylation (GO:0035335)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive chemotaxis (GO:0050918)|positive regulation of cell adhesion (GO:0045785)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of cell adhesion (GO:0030155)|vasculogenesis (GO:0001570)	cell projection (GO:0042995)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|delta-catenin binding (GO:0070097)|gamma-catenin binding (GO:0045295)|mitogen-activated protein kinase binding (GO:0051019)|phosphatase activity (GO:0016791)|platelet-derived growth factor receptor binding (GO:0005161)|protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)			breast(3)|endometrium(7)|kidney(7)|large_intestine(5)|lung(15)|ovary(1)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						TGGAGCAATGGCAATGGCACT	0.493																																						ENST00000418331.2																			0				breast(3)|endometrium(7)|kidney(7)|large_intestine(5)|lung(15)|ovary(1)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						c.(688-690)gGc>gAc		protein tyrosine phosphatase, receptor type, J							79	73	75					11																	48145237		2201	4298	6499	SO:0001583	missense	5795				contact inhibition|negative regulation of cell growth|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of MAP kinase activity|negative regulation of platelet-derived growth factor receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of T cell receptor signaling pathway|negative regulation of vascular permeability|platelet-derived growth factor receptor signaling pathway|positive chemotaxis|positive regulation of focal adhesion assembly|positive regulation of protein kinase B signaling cascade|positive regulation of survival gene product expression	cell surface|cell-cell junction|immunological synapse|integral to plasma membrane|ruffle membrane	beta-catenin binding|delta-catenin binding|gamma-catenin binding|mitogen-activated protein kinase binding|platelet-derived growth factor receptor binding|protein tyrosine phosphatase activity	g.chr11:48145237G>A	U10886	CCDS7945.1, CCDS44596.1	11p11.2	2013-02-11			ENSG00000149177	ENSG00000149177		"CD molecules", "Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Fibronectin type III domain containing"	9673	protein-coding gene	gene with protein product		600925				7937872, 7994032	Standard	NM_001098503		Approved	DEP1, HPTPeta, CD148	uc001ngp.4	Q12913	OTTHUMG00000166573	ENST00000418331.2:c.689G>A	11.37:g.48145237G>A	ENSP00000400010:p.Gly230Asp					PTPRJ_ENST00000440289.2_Missense_Mutation_p.G230D	p.G230D	NM_002843.3	NP_002834.3	Q12913	PTPRJ_HUMAN			5	1041	+			230			Fibronectin type-III 2.		Q15255|Q6P4H4|Q8NHM2|Q9UDA9	Missense_Mutation	SNP	ENST00000418331.2	37	c.689G>A	CCDS7945.1	.	.	.	.	.	.	.	.	.	.	G	11.33	1.606652	0.28623	.	.	ENSG00000149177	ENST00000278456;ENST00000418331;ENST00000440289;ENST00000527952	T;T	0.64803	-0.12;-0.12	5.85	-7.16	0.01516	Fibronectin, type III (2);	.	.	.	.	T	0.32526	0.0832	N	0.08118	0	0.09310	N	1	B;B	0.10296	0.0;0.003	B;B	0.08055	0.001;0.003	T	0.26950	-1.0088	9	0.17369	T	0.5	.	8.7866	0.34825	0.2649:0.2451:0.4901:0.0	.	230;230	Q12913;Q6P4H4	PTPRJ_HUMAN;.	D	230;230;230;142	ENSP00000400010:G230D;ENSP00000409733:G230D	ENSP00000278456:G230D	G	+	2	0	PTPRJ	48101813	0.000000	0.05858	0.000000	0.03702	0.059000	0.15707	-0.919000	0.04017	-1.162000	0.02797	-0.290000	0.09829	GGC		0.493	PTPRJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390525.1			22	40	0	0	0	1	0	22	40					A	48145237	G	A	48145237	3	1	435	1	0	0	0	0	1	0	0	0	12804	1203	42	3	707	3	PTPRJ	11	48145237	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	539219	48145237	86861279	5123	26048											
OR4C12	283093	broad.mit.edu	37	chr11	50003697	50003697	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcagtcacaggccatcactGtcagcaggatgatctcagta	12	8	10	11	0	4	1	4	1	1	0	5	2	4	2	1	2	2	3	1	2	1	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:50003697G>A	ENST00000335238.4	-	1	374	c.341C>T	c.(340-342)aCa>aTa	p.T114I		NM_001005270.2	NP_001005270.2	Q96R67	OR4CC_HUMAN	olfactory receptor, family 4, subfamily C, member 12	114						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|kidney(4)|large_intestine(3)|liver(1)|lung(19)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	36						GGCCATCACTGTCAGCAGGAT	0.483																																						ENST00000335238.4																			0				NS(1)|kidney(4)|large_intestine(3)|liver(1)|lung(19)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	36						c.(340-342)aCa>aTa		olfactory receptor, family 4, subfamily C, member 12							150	149	150					11																	50003697		2201	4296	6497	SO:0001583	missense	283093				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:50003697G>A	BK004413	CCDS31496.1	11p11.12	2012-08-09			ENSG00000221954	ENSG00000221954		"GPCR / Class A : Olfactory receptors"	15168	protein-coding gene	gene with protein product							Standard	NM_001005270		Approved		uc010ria.2	Q96R67	OTTHUMG00000166687	ENST00000335238.4:c.341C>T	11.37:g.50003697G>A	ENSP00000334418:p.Thr114Ile						p.T114I	NM_001005270.2	NP_001005270.1	Q96R67	OR4CC_HUMAN			1	374	-			114					B2RNF0|Q6IF49	Missense_Mutation	SNP	ENST00000335238.4	37	c.341C>T	CCDS31496.1	.	.	.	.	.	.	.	.	.	.	.	4.259	0.047205	0.08243	.	.	ENSG00000221954	ENST00000335238	T	0.01347	4.99	3.31	2.38	0.29361	GPCR, rhodopsin-like superfamily (1);	0.372428	0.19266	N	0.118529	T	0.01387	0.0045	L	0.38175	1.15	0.19945	N	0.999947	B	0.06786	0.001	B	0.12837	0.008	T	0.47394	-0.9121	10	0.18276	T	0.48	.	8.6774	0.34187	0.1202:0.0:0.8798:0.0	.	114	Q96R67	OR4CC_HUMAN	I	114	ENSP00000334418:T114I	ENSP00000334418:T114I	T	-	2	0	OR4C12	49960273	0.002000	0.14202	0.537000	0.28052	0.932000	0.56968	1.265000	0.33027	0.747000	0.32809	0.398000	0.26397	ACA		0.483	OR4C12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391104.1	NM_001005270		35	63	0	0	0	1	0	35	63					A	50003697	G	A	50003697	3	1	435	1	0	0	0	0	1	0	0	0	11046	1377	48	3	592	3	OR4C12	11	50003697	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	1858460	50003697	85002819	5124	26049											
OR4C46	119749	broad.mit.edu	37	chr11	51515399	51515399	+	Missense_Mutation	SNP	T	T	A																															atatcatcactgtggtgggaTatgtgctcattgtggtcacc																										TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:51515399T>A	ENST00000328188.1	+	1	118	c.118T>A	c.(118-120)Tat>Aat	p.Y40N		NM_001004703.1	NP_001004703.1	A6NHA9	O4C46_HUMAN	olfactory receptor, family 4, subfamily C, member 46	40						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.Y40N(1)		endometrium(5)|large_intestine(5)|lung(31)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	48						TGTGGTGGGATATGTGCTCAT	0.453																																						ENST00000328188.1																			1	Substitution - Missense(1)	p.Y40N(1)	endometrium(1)	endometrium(5)|large_intestine(5)|lung(31)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	48						c.(118-120)Tat>Aat		olfactory receptor, family 4, subfamily C, member 46							237	226	230					11																	51515399		2201	4296	6497	SO:0001583	missense	119749				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:51515399T>A		CCDS73288.1	11p11.12	2012-08-09			ENSG00000185926	ENSG00000185926		"GPCR / Class A : Olfactory receptors"	31271	protein-coding gene	gene with protein product		614273					Standard	NM_001004703		Approved		uc010ric.2	A6NHA9	OTTHUMG00000166705	ENST00000328188.1:c.118T>A	11.37:g.51515399T>A	ENSP00000329056:p.Tyr40Asn						p.Y40N	NM_001004703.1	NP_001004703.1	A6NHA9	O4C46_HUMAN			1	118	+			40						Missense_Mutation	SNP	ENST00000328188.1	37	c.118T>A	CCDS31498.1	.	.	.	.	.	.	.	.	.	.	.	0.017	-1.503055	0.00992	.	.	ENSG00000185926	ENST00000328188	T	0.06142	3.34	2.63	2.63	0.31362	GPCR, rhodopsin-like superfamily (1);	0.000000	0.41194	N	0.000940	T	0.00412	0.0013	N	0.00000	-4.78	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.46803	-0.9165	10	0.02654	T	1	.	6.3725	0.21489	0.7796:0.0:0.0:0.2204	.	40	A6NHA9	O4C46_HUMAN	N	40	ENSP00000329056:Y40N	ENSP00000329056:Y40N	Y	+	1	0	OR4C46	51371975	0.999000	0.42202	0.003000	0.11579	0.003000	0.03518	4.960000	0.63673	0.271000	0.22005	-1.617000	0.00794	TAT		0.453	OR4C46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391155.1	NM_001004703		9	116	0	0	0	1	0	9	116					A	51515399	T	A	51515399	3	1	435	1	0	0	0	0	1	0	0	0	11051	1406	49	5	120	5	OR4C46	11	51515399	Missense_Mutation	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	1511702	51515399	83491117	5125	26050	123	2									
OR4C46	119749	broad.mit.edu	37	chr11	51515403	51515403	+	Missense_Mutation	SNP	T	T	C																															catcactgtggtgggatatgTgctcattgtggtcaccatca																										TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:51515403T>C	ENST00000328188.1	+	1	122	c.122T>C	c.(121-123)gTg>gCg	p.V41A		NM_001004703.1	NP_001004703.1	A6NHA9	O4C46_HUMAN	olfactory receptor, family 4, subfamily C, member 46	41						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V41A(1)		endometrium(5)|large_intestine(5)|lung(31)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	48						GTGGGATATGTGCTCATTGTG	0.453																																						ENST00000328188.1																			1	Substitution - Missense(1)	p.V41A(1)	endometrium(1)	endometrium(5)|large_intestine(5)|lung(31)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	48						c.(121-123)gTg>gCg		olfactory receptor, family 4, subfamily C, member 46							239	228	232					11																	51515403		2201	4296	6497	SO:0001583	missense	119749				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:51515403T>C		CCDS73288.1	11p11.12	2012-08-09			ENSG00000185926	ENSG00000185926		"GPCR / Class A : Olfactory receptors"	31271	protein-coding gene	gene with protein product		614273					Standard	NM_001004703		Approved		uc010ric.2	A6NHA9	OTTHUMG00000166705	ENST00000328188.1:c.122T>C	11.37:g.51515403T>C	ENSP00000329056:p.Val41Ala						p.V41A	NM_001004703.1	NP_001004703.1	A6NHA9	O4C46_HUMAN			1	122	+			41						Missense_Mutation	SNP	ENST00000328188.1	37	c.122T>C	CCDS31498.1	.	.	.	.	.	.	.	.	.	.	.	7.428	0.638151	0.14386	.	.	ENSG00000185926	ENST00000328188	T	0.00011	9.36	2.63	-0.0215	0.13951	GPCR, rhodopsin-like superfamily (1);	1.154360	0.06801	U	0.788682	T	0.00073	0.0002	N	0.25647	0.755	0.09310	N	1	B	0.19706	0.038	B	0.26094	0.066	T	0.11179	-1.0598	10	0.72032	D	0.01	.	4.2617	0.10744	0.0:0.1228:0.2035:0.6737	.	41	A6NHA9	O4C46_HUMAN	A	41	ENSP00000329056:V41A	ENSP00000329056:V41A	V	+	2	0	OR4C46	51371979	0.000000	0.05858	0.004000	0.12327	0.007000	0.05969	0.439000	0.21575	-0.088000	0.12506	-4.024000	0.00013	GTG		0.453	OR4C46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391155.1	NM_001004703		9	119	0	0	0	1	0	9	119					C	51515403	T	C	51515403	3	2	435	1	0	0	0	0	1	0	0	0	11051	1696	59	4	124	4	OR4C46	11	51515403	Missense_Mutation	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	4	51515403	83491113	5126	26051	123	2									
TRIM48	79097	broad.mit.edu	37	chr11	55033097	55033097	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agaagcttttaaagaaaatgCagtctttatgggaaaaagct	17	11	9	4	0	1	2	0	0	1	2	1	3	1	3	0	1	3	3	0	1	8	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:55033097C>T	ENST00000417545.2	+	3	567	c.481C>T	c.(481-483)Cag>Tag	p.Q161*		NM_024114.3	NP_077019.2	Q8IWZ4	TRI48_HUMAN	tripartite motif containing 48	145						intracellular (GO:0005622)	zinc ion binding (GO:0008270)			endometrium(13)|lung(19)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						AAAGAAAATGCAGTCTTTATG	0.423																																						ENST00000417545.2																			0				endometrium(13)|lung(19)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						c.(481-483)Cag>Tag		tripartite motif containing 48							30	33	32					11																	55033097		2174	4243	6417	SO:0001587	stop_gained	79097					intracellular	zinc ion binding	g.chr11:55033097C>T	AF521869	CCDS7947.2	11q12	2013-01-09	2011-01-25		ENSG00000150244	ENSG00000150244		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	19021	protein-coding gene	gene with protein product			"tripartite motif-containing 48"				Standard	NM_024114		Approved	RNF101	uc010rid.2	Q8IWZ4	OTTHUMG00000157011	ENST00000417545.2:c.481C>T	11.37:g.55033097C>T	ENSP00000402414:p.Gln161*						p.Q161*	NM_024114.3	NP_077019.2	Q8IWZ4	TRI48_HUMAN			3	567	+			145					Q9BUW4	Nonsense_Mutation	SNP	ENST00000417545.2	37	c.481C>T	CCDS7947.2	.	.	.	.	.	.	.	.	.	.	c	5.206	0.223505	0.09863	.	.	ENSG00000150244	ENST00000417545	.	.	.	0.596	-1.19	0.09585	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.10636	T	0.68	.	.	.	.	.	.	.	.	X	161	.	ENSP00000402414:Q161X	Q	+	1	0	TRIM48	54789673	0.021000	0.18746	0.003000	0.11579	0.002000	0.02628	-0.049000	0.11924	-0.489000	0.06716	-0.891000	0.02926	CAG		0.423	TRIM48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347088.1			5	35	0	0	0	1	0	5	35					T	55033097	C	T	55033097	4	4	435	1	0	0	0	0	0	1	0	0	16520	711	25	3	491	3	TRIM48	11	55033097	Nonsense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	3517694	55033097	79973419	5127	26052											
OR4C6	219432	broad.mit.edu	37	chr11	55433499	55433499	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gttaaatcccttgatctataCactgaggaatgcagaggtga	13	11	10	7	0	1	4	0	3	1	1	2	5	2	5	1	2	2	2	1	2	5	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:55433499C>T	ENST00000314259.3	+	1	886	c.857C>T	c.(856-858)aCa>aTa	p.T286I		NM_001004704.1	NP_001004704.1	Q8NH72	OR4C6_HUMAN	olfactory receptor, family 4, subfamily C, member 6	286						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|lung(49)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	71						TTGATCTATACACTGAGGAAT	0.438																																						ENST00000314259.3																			0				breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|lung(49)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	71						c.(856-858)aCa>aTa		olfactory receptor, family 4, subfamily C, member 6							85	84	84					11																	55433499		2200	4296	6496	SO:0001583	missense	219432				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55433499C>T	CR593785	CCDS31506.1	11q11	2012-08-09			ENSG00000181903	ENSG00000181903		"GPCR / Class A : Olfactory receptors"	14743	protein-coding gene	gene with protein product							Standard	NM_001004704		Approved		uc010rik.2	Q8NH72	OTTHUMG00000166800	ENST00000314259.3:c.857C>T	11.37:g.55433499C>T	ENSP00000324769:p.Thr286Ile						p.T286I	NM_001004704.1	NP_001004704.1	Q8NH72	OR4C6_HUMAN			1	886	+			286					B2RP11|Q6IFD2	Missense_Mutation	SNP	ENST00000314259.3	37	c.857C>T	CCDS31506.1	.	.	.	.	.	.	.	.	.	.	C	10.47	1.359898	0.24598	.	.	ENSG00000181903	ENST00000314259	T	0.36157	1.27	4.0	1.88	0.25563	.	0.187206	0.25941	N	0.027317	T	0.48187	0.1486	M	0.91612	3.225	0.09310	N	0.999994	B	0.24651	0.108	B	0.29942	0.109	T	0.53528	-0.8426	10	0.66056	D	0.02	.	12.2515	0.54601	0.0:0.5074:0.4926:0.0	.	286	Q8NH72	OR4C6_HUMAN	I	286	ENSP00000324769:T286I	ENSP00000324769:T286I	T	+	2	0	OR4C6	55190075	0.000000	0.05858	0.165000	0.22776	0.724000	0.41520	0.317000	0.19487	0.660000	0.30964	0.530000	0.56133	ACA		0.438	OR4C6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391504.1	NM_001004704		21	24	0	0	0	1	0	21	24					T	55433499	C	T	55433499	3	4	435	1	0	0	0	0	1	0	0	0	11052	478	17	3	859	3	OR4C6	11	55433499	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	400402	55433499	79573017	5128	26053											
OR5L1	219437	broad.mit.edu	37	chr11	55579030	55579030	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgagagtctgcctcttcctgCtgttccttctcatctatgga	5	16	8	12	0	4	1	1	1	4	1	7	3	6	2	3	1	2	2	3	1	1	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:55579030C>A	ENST00000333973.2	+	1	177	c.88C>A	c.(88-90)Ctg>Atg	p.L30M		NM_001004738.1	NP_001004738.1	Q8NGL2	OR5L1_HUMAN	olfactory receptor, family 5, subfamily L, member 1	30						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(4)|liver(4)|lung(36)|ovary(2)|pancreas(1)|prostate(5)|skin(9)|stomach(4)|upper_aerodigestive_tract(3)	78		all_epithelial(135;0.208)				CCTCTTCCTGCTGTTCCTTCT	0.493																																						ENST00000333973.2																			0				NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(4)|liver(4)|lung(36)|ovary(2)|pancreas(1)|prostate(5)|skin(9)|stomach(4)|upper_aerodigestive_tract(3)	78						c.(88-90)Ctg>Atg		olfactory receptor, family 5, subfamily L, member 1							250	227	235					11																	55579030		2200	4296	6496	SO:0001583	missense	219437				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55579030C>A	AB065780	CCDS31509.1	11q11	2012-08-09			ENSG00000186117	ENSG00000186117		"GPCR / Class A : Olfactory receptors"	8350	protein-coding gene	gene with protein product							Standard	NM_001004738		Approved	OST262	uc001nhw.1	Q8NGL2	OTTHUMG00000166810	ENST00000333973.2:c.88C>A	11.37:g.55579030C>A	ENSP00000335529:p.Leu30Met						p.L30M	NM_001004738.1	NP_001004738.1	Q8NGL2	OR5L1_HUMAN			1	177	+		all_epithelial(135;0.208)	30					B2RNK6|Q6IFD0	Missense_Mutation	SNP	ENST00000333973.2	37	c.88C>A	CCDS31509.1	.	.	.	.	.	.	.	.	.	.	c	7.333	0.619341	0.14129	.	.	ENSG00000186117	ENST00000333973	T	0.17054	2.3	4.32	-8.64	0.00874	.	2.457760	0.01747	N	0.029680	T	0.14399	0.0348	L	0.55834	1.745	0.09310	N	1	B	0.29481	0.245	B	0.23852	0.049	T	0.04752	-1.0929	10	0.25751	T	0.34	0.9846	9.3554	0.38164	0.3156:0.2472:0.4372:0.0	.	30	Q8NGL2	OR5L1_HUMAN	M	30	ENSP00000335529:L30M	ENSP00000335529:L30M	L	+	1	2	OR5L1	55335606	0.000000	0.05858	0.000000	0.03702	0.041000	0.13682	-4.804000	0.00183	-2.021000	0.00939	-0.597000	0.04108	CTG		0.493	OR5L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391514.1	NM_001004738		6	139	1	0	0.00307968	1	0.00311927	6	139					A	55579030	C	A	55579030	3	1	435	1	0	0	0	0	1	0	0	0	11170	796	28	5	90	5	OR5L1	11	55579030	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	145531	55579030	79427486	5129	26054											
OR5D18	219438	broad.mit.edu	37	chr11	55587828	55587828	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgccgcaaagccttctccacCtgtgcctcccacctgactgc	6	8	7	20	2	1	1	0	1	1	0	3	1	2	1	7	0	3	1	7	0	1	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:55587828C>A	ENST00000333976.4	+	1	743	c.723C>A	c.(721-723)acC>acA	p.T241T		NM_001001952.1	NP_001001952.1	Q8NGL1	OR5DI_HUMAN	olfactory receptor, family 5, subfamily D, member 18	241						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|breast(1)|endometrium(3)|large_intestine(6)|lung(33)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		all_epithelial(135;0.208)				CCTTCTCCACCTGTGCCTCCC	0.507																																						ENST00000333976.4																			0				NS(2)|breast(1)|endometrium(3)|large_intestine(6)|lung(33)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						c.(721-723)acC>acA		olfactory receptor, family 5, subfamily D, member 18							133	114	121					11																	55587828		2200	4296	6496	SO:0001819	synonymous_variant	219438				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55587828C>A	AB065781	CCDS31510.1	11q11	2012-08-09			ENSG00000186119	ENSG00000186119		"GPCR / Class A : Olfactory receptors"	15285	protein-coding gene	gene with protein product							Standard	NM_001001952		Approved		uc010rin.2	Q8NGL1	OTTHUMG00000166811	ENST00000333976.4:c.723C>A	11.37:g.55587828C>A							p.T241T	NM_001001952.1	NP_001001952.1	Q8NGL1	OR5DI_HUMAN			1	743	+		all_epithelial(135;0.208)	241					Q6IF67|Q6IFD3|Q96RB3	Silent	SNP	ENST00000333976.4	37	c.723C>A	CCDS31510.1																																																																																				0.507	OR5D18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391515.1	NM_001001952		17	57	1	0	1.45105e-14	1	1.58388e-14	17	57					A	55587828	C	A	55587828	2	1	435	1	0	0	0	0	0	0	0	1	11157	668	24	5		5	OR5D18	11	55587828	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	8798	55587828	79418688	5130	26055											
OR5D18	219438	broad.mit.edu	37	chr11	55588008	55588008	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aataaagatgtcaaggatacAgtcaccgagatactggacac	17	7	9	8	1	2	2	2	0	0	2	2	5	2	4	1	2	2	0	1	2	6	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:55588008A>G	ENST00000333976.4	+	1	923	c.903A>G	c.(901-903)acA>acG	p.T301T		NM_001001952.1	NP_001001952.1	Q8NGL1	OR5DI_HUMAN	olfactory receptor, family 5, subfamily D, member 18	301						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|breast(1)|endometrium(3)|large_intestine(6)|lung(33)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		all_epithelial(135;0.208)				TCAAGGATACAGTCACCGAGA	0.418																																						ENST00000333976.4																			0				NS(2)|breast(1)|endometrium(3)|large_intestine(6)|lung(33)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						c.(901-903)acA>acG		olfactory receptor, family 5, subfamily D, member 18							64	68	67					11																	55588008		2200	4296	6496	SO:0001819	synonymous_variant	219438				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55588008A>G	AB065781	CCDS31510.1	11q11	2012-08-09			ENSG00000186119	ENSG00000186119		"GPCR / Class A : Olfactory receptors"	15285	protein-coding gene	gene with protein product							Standard	NM_001001952		Approved		uc010rin.2	Q8NGL1	OTTHUMG00000166811	ENST00000333976.4:c.903A>G	11.37:g.55588008A>G							p.T301T	NM_001001952.1	NP_001001952.1	Q8NGL1	OR5DI_HUMAN			1	923	+		all_epithelial(135;0.208)	301					Q6IF67|Q6IFD3|Q96RB3	Silent	SNP	ENST00000333976.4	37	c.903A>G	CCDS31510.1																																																																																				0.418	OR5D18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391515.1	NM_001001952		11	28	0	0	0	1	0	11	28					G	55588008	A	G	55588008	2	3	435	1	0	0	0	0	0	0	0	1	11157	175	7	4		4	OR5D18	11	55588008	Silent	SNP	A	TCGA-XK-AAIW-01A-11D-A41K-08	180	55588008	79418508	5131	26056											
OR5L2	26338	broad.mit.edu	37	chr11	55594809	55594809	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttctcatctatggagtcacgTtgttagccaatctgggcatg	8	14	10	9	1	4	0	2	0	3	0	5	1	4	1	1	2	1	3	1	2	3	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:55594809T>C	ENST00000378397.1	+	1	115	c.115T>C	c.(115-117)Ttg>Ctg	p.L39L		NM_001004739.1	NP_001004739.1	Q8NGL0	OR5L2_HUMAN	olfactory receptor, family 5, subfamily L, member 2	39						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|kidney(1)|large_intestine(1)|lung(42)|ovary(1)|prostate(3)|skin(1)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	59		all_epithelial(135;0.208)				TGGAGTCACGTTGTTAGCCAA	0.507										HNSCC(27;0.073)																												ENST00000378397.1																			0				breast(2)|kidney(1)|large_intestine(1)|lung(42)|ovary(1)|prostate(3)|skin(1)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	59						c.(115-117)Ttg>Ctg		olfactory receptor, family 5, subfamily L, member 2							304	268	280					11																	55594809		2200	4296	6496	SO:0001819	synonymous_variant	26338				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55594809T>C	AB065782	CCDS31511.1	11q11	2012-08-09			ENSG00000205030	ENSG00000205030		"GPCR / Class A : Olfactory receptors"	8351	protein-coding gene	gene with protein product						1370859	Standard	NM_001004739		Approved	HTPCRX16, HSHTPCRX16	uc001nhy.1	Q8NGL0	OTTHUMG00000166812	ENST00000378397.1:c.115T>C	11.37:g.55594809T>C		HNSCC(27;0.073)					p.L39L	NM_001004739.1	NP_001004739.1	Q8NGL0	OR5L2_HUMAN			1	115	+		all_epithelial(135;0.208)	39					Q6IF66|Q96RB2	Silent	SNP	ENST00000378397.1	37	c.115T>C	CCDS31511.1																																																																																				0.507	OR5L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391516.1	NM_001004739		5	169	0	0	0	1	0	5	169					C	55594809	T	C	55594809	2	2	435	1	0	0	0	0	0	0	0	1	11171	1722	60	4		4	OR5L2	11	55594809	Silent	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	6801	55594809	79411707	5132	26057											
OR5W2	390148	broad.mit.edu	37	chr11	55681353	55681353	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtgcatgtagagagagcttTgaacctcccctcagcagagt	11	9	11	10	0	1	4	1	1	0	3	2	5	2	4	3	0	4	4	3	0	2	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:55681353T>C	ENST00000344514.1	-	1	705	c.706A>G	c.(706-708)Aaa>Gaa	p.K236E		NM_001001960.1	NP_001001960.1	Q8NH69	OR5W2_HUMAN	olfactory receptor, family 5, subfamily W, member 2	236						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(28)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						GAGAGAGCTTTGAACCTCCCC	0.408																																					Melanoma(48;171 1190 15239 43886 49348)	ENST00000344514.1																			0				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(28)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						c.(706-708)Aaa>Gaa		olfactory receptor, family 5, subfamily W, member 2							77	88	84					11																	55681353		2201	4296	6497	SO:0001583	missense	390148				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55681353T>C	BK004398	CCDS31513.1	11q11	2012-08-09		2004-03-10	ENSG00000187612	ENSG00000187612		"GPCR / Class A : Olfactory receptors"	15299	protein-coding gene	gene with protein product				OR5W2P, OR5W3P			Standard	NM_001001960		Approved		uc010rir.2	Q8NH69	OTTHUMG00000166818	ENST00000344514.1:c.706A>G	11.37:g.55681353T>C	ENSP00000342448:p.Lys236Glu						p.K236E	NM_001001960.1	NP_001001960.1	Q8NH69	OR5W2_HUMAN			1	705	-			236						Missense_Mutation	SNP	ENST00000344514.1	37	c.706A>G	CCDS31513.1	.	.	.	.	.	.	.	.	.	.	T	15.84	2.952982	0.53293	.	.	ENSG00000187612	ENST00000344514	T	0.00364	7.81	5.0	3.85	0.44370	GPCR, rhodopsin-like superfamily (1);	0.000000	0.43260	D	0.000600	T	0.01870	0.0059	H	0.99325	4.515	0.30674	N	0.753039	D	0.64830	0.994	D	0.68765	0.96	T	0.04255	-1.0965	10	0.87932	D	0	.	10.1613	0.42853	0.0:0.0:0.1681:0.8319	.	236	Q8NH69	OR5W2_HUMAN	E	236	ENSP00000342448:K236E	ENSP00000342448:K236E	K	-	1	0	OR5W2	55437929	1.000000	0.71417	0.973000	0.42090	0.295000	0.27426	6.969000	0.76092	0.727000	0.32360	0.443000	0.29094	AAA		0.408	OR5W2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391523.1	NM_001001960		8	32	0	0	0	1	0	8	32					C	55681353	T	C	55681353	3	2	435	1	0	0	0	0	1	0	0	0	11185	1821	63	4	228	4	OR5W2	11	55681353	Missense_Mutation	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	86544	55681353	79325163	5133	26058											
OR10AG1	282770	broad.mit.edu	37	chr11	55735752	55735752	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggataatgattgttacataaCagatttccaaaagggaaaaa	19	10	8	4	0	0	2	0	1	0	1	1	4	1	4	1	2	2	1	1	2	7	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:55735752C>T	ENST00000312345.2	-	1	238	c.188G>A	c.(187-189)tGt>tAt	p.C63Y		NM_001005491.1	NP_001005491.1	Q8NH19	O10AG_HUMAN	olfactory receptor, family 10, subfamily AG, member 1	63						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(24)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	40	Esophageal squamous(21;0.0137)					TGTTACATAACAGATTTCCAA	0.343																																						ENST00000312345.2																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(24)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	40						c.(187-189)tGt>tAt		olfactory receptor, family 10, subfamily AG, member 1							63	70	68					11																	55735752		2200	4295	6495	SO:0001583	missense	282770				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55735752C>T	AB065594	CCDS31514.1	11q11	2012-08-09			ENSG00000174970	ENSG00000174970		"GPCR / Class A : Olfactory receptors"	19607	protein-coding gene	gene with protein product							Standard	NM_001005491		Approved		uc010rit.2	Q8NH19	OTTHUMG00000166824	ENST00000312345.2:c.188G>A	11.37:g.55735752C>T	ENSP00000311477:p.Cys63Tyr						p.C63Y	NM_001005491.1	NP_001005491.1	Q8NH19	O10AG_HUMAN			1	238	-	Esophageal squamous(21;0.0137)		63					B2RNH4|Q6IEU3	Missense_Mutation	SNP	ENST00000312345.2	37	c.188G>A	CCDS31514.1	.	.	.	.	.	.	.	.	.	.	C	6.981	0.550996	0.13374	.	.	ENSG00000174970	ENST00000312345	T	0.00463	7.25	5.47	4.56	0.56223	GPCR, rhodopsin-like superfamily (1);	0.000000	0.56097	D	0.000021	T	0.00875	0.0029	M	0.91717	3.235	0.09310	N	1	B	0.31125	0.309	B	0.35727	0.209	T	0.15983	-1.0418	10	0.72032	D	0.01	.	9.4264	0.38583	0.1625:0.6807:0.1568:0.0	.	63	Q8NH19	O10AG_HUMAN	Y	63	ENSP00000311477:C63Y	ENSP00000311477:C63Y	C	-	2	0	OR10AG1	55492328	0.000000	0.05858	0.983000	0.44433	0.224000	0.24922	0.731000	0.26058	1.346000	0.45694	-0.871000	0.02989	TGT		0.343	OR10AG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391531.1	NM_001005491		4	61	0	0	0	1	0	4	61					T	55735752	C	T	55735752	3	4	435	1	0	0	0	0	1	0	0	0	10897	478	17	3	720	3	OR10AG1	11	55735752	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	54399	55735752	79270764	5134	26059											
OR5AS1	219447	broad.mit.edu	37	chr11	55798489	55798489	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctcagatcaaccagcttctgCtctttgctttgtgcagcttc	6	15	7	13	0	4	1	2	0	2	1	5	1	4	1	1	0	6	5	1	0	1	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:55798489C>T	ENST00000313555.1	+	1	595	c.595C>T	c.(595-597)Ctc>Ttc	p.L199F		NM_001001921.1	NP_001001921.1	Q8N127	O5AS1_HUMAN	olfactory receptor, family 5, subfamily AS, member 1	199						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(7)|large_intestine(7)|liver(1)|lung(22)|ovary(3)|prostate(4)|skin(3)|stomach(1)	48	Esophageal squamous(21;0.00693)					CCAGCTTCTGCTCTTTGCTTT	0.423																																						ENST00000313555.1																			0				endometrium(7)|large_intestine(7)|liver(1)|lung(22)|ovary(3)|prostate(4)|skin(3)|stomach(1)	48						c.(595-597)Ctc>Ttc		olfactory receptor, family 5, subfamily AS, member 1							312	310	311					11																	55798489		2201	4296	6497	SO:0001583	missense	219447				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55798489C>T	AB065543	CCDS31516.1	11q11	2012-08-09			ENSG00000181785	ENSG00000181785		"GPCR / Class A : Olfactory receptors"	15261	protein-coding gene	gene with protein product							Standard	NM_001001921		Approved		uc010riw.2	Q8N127	OTTHUMG00000166830	ENST00000313555.1:c.595C>T	11.37:g.55798489C>T	ENSP00000324111:p.Leu199Phe						p.L199F	NM_001001921.1	NP_001001921.1	Q8N127	O5AS1_HUMAN			1	595	+	Esophageal squamous(21;0.00693)		199					Q6IFB8	Missense_Mutation	SNP	ENST00000313555.1	37	c.595C>T	CCDS31516.1	.	.	.	.	.	.	.	.	.	.	C	16.59	3.166926	0.57476	.	.	ENSG00000181785	ENST00000313555	T	0.00220	8.52	5.23	4.32	0.51571	GPCR, rhodopsin-like superfamily (1);	0.000000	0.31697	U	0.007211	T	0.00440	0.0014	M	0.74389	2.26	0.27805	N	0.942347	D	0.71674	0.998	D	0.70016	0.967	T	0.43686	-0.9376	10	0.62326	D	0.03	.	8.4969	0.33134	0.0:0.826:0.0:0.174	.	199	Q8N127	O5AS1_HUMAN	F	199	ENSP00000324111:L199F	ENSP00000324111:L199F	L	+	1	0	OR5AS1	55555065	0.000000	0.05858	1.000000	0.80357	0.901000	0.52897	-0.406000	0.07187	2.439000	0.82584	0.643000	0.83706	CTC		0.423	OR5AS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391538.1	NM_001001921		88	131	0	0	0	1	0	88	131					T	55798489	C	T	55798489	3	4	435	1	0	0	0	0	1	0	0	0	11146	797	28	3	597	3	OR5AS1	11	55798489	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	62737	55798489	79208027	5135	26060											
OR8H2	390151	broad.mit.edu	37	chr11	55872892	55872892	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggcccatgatcgctatgcagCgatctgcagtcctctacact	8	10	9	14	2	2	1	0	1	2	0	4	2	3	1	2	1	4	3	2	1	2	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:55872892C>T	ENST00000313503.1	+	1	374	c.374C>T	c.(373-375)gCg>gTg	p.A125V		NM_001005200.1	NP_001005200.1	Q8N162	OR8H2_HUMAN	olfactory receptor, family 8, subfamily H, member 2	125						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(38)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	61	Esophageal squamous(21;0.00693)					CGCTATGCAGCGATCTGCAGT	0.468										HNSCC(53;0.14)																												ENST00000313503.1																			0				breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(38)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	61						c.(373-375)gCg>gTg		olfactory receptor, family 8, subfamily H, member 2							188	184	185					11																	55872892		2201	4296	6497	SO:0001583	missense	390151				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55872892C>T	AB065657	CCDS31518.1	11q11	2012-08-09			ENSG00000181767	ENSG00000181767		"GPCR / Class A : Olfactory receptors"	15308	protein-coding gene	gene with protein product							Standard	NM_001005200		Approved		uc010riy.2	Q8N162	OTTHUMG00000166832	ENST00000313503.1:c.374C>T	11.37:g.55872892C>T	ENSP00000323982:p.Ala125Val	HNSCC(53;0.14)					p.A125V	NM_001005200.1	NP_001005200.1	Q8N162	OR8H2_HUMAN			1	374	+	Esophageal squamous(21;0.00693)		125					Q6IFC1	Missense_Mutation	SNP	ENST00000313503.1	37	c.374C>T	CCDS31518.1	.	.	.	.	.	.	.	.	.	.	c	16.58	3.164155	0.57476	.	.	ENSG00000181767	ENST00000313503	T	0.01228	5.14	3.35	3.35	0.38373	GPCR, rhodopsin-like superfamily (1);	0.000000	0.52532	D	0.000065	T	0.15392	0.0371	H	0.97564	4.03	0.43462	D	0.995664	D	0.89917	1.0	D	0.91635	0.999	T	0.38243	-0.9670	10	0.87932	D	0	.	15.6689	0.77258	0.0:1.0:0.0:0.0	.	125	Q8N162	OR8H2_HUMAN	V	125	ENSP00000323982:A125V	ENSP00000323982:A125V	A	+	2	0	OR8H2	55629468	1.000000	0.71417	0.136000	0.22124	0.016000	0.09150	7.254000	0.78329	1.835000	0.53391	0.440000	0.28878	GCG		0.468	OR8H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391540.1	NM_001005200		4	79	0	0	0	1	0	4	79					T	55872892	C	T	55872892	3	4	435	1	0	0	0	0	1	0	0	0	11238	768	27	1	376	1	OR8H2	11	55872892	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	74403	55872892	79133624	5136	26061											
OR8H3	390152	broad.mit.edu	37	chr11	55890222	55890222	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggcctatgatcgctatgcagCgatctgcagtcctctacact	8	11	9	13	2	2	1	0	1	2	0	4	2	3	1	2	1	4	3	2	1	3	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:55890222C>T	ENST00000313472.3	+	1	374	c.374C>T	c.(373-375)gCg>gTg	p.A125V		NM_001005201.1	NP_001005201.1	Q8N146	OR8H3_HUMAN	olfactory receptor, family 8, subfamily H, member 3	125						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(30)|ovary(2)|prostate(1)|skin(3)|stomach(1)	42	Esophageal squamous(21;0.00693)					CGCTATGCAGCGATCTGCAGT	0.473																																						ENST00000313472.3																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(30)|ovary(2)|prostate(1)|skin(3)|stomach(1)	42						c.(373-375)gCg>gTg		olfactory receptor, family 8, subfamily H, member 3							200	186	191					11																	55890222		2201	4296	6497	SO:0001583	missense	390152				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55890222C>T	AB065840	CCDS31519.1	11q11	2012-08-09			ENSG00000181761	ENSG00000181761		"GPCR / Class A : Olfactory receptors"	15309	protein-coding gene	gene with protein product							Standard	NM_001005201		Approved		uc001nii.1	Q8N146	OTTHUMG00000166833	ENST00000313472.3:c.374C>T	11.37:g.55890222C>T	ENSP00000323928:p.Ala125Val						p.A125V	NM_001005201.1	NP_001005201.1	Q8N146	OR8H3_HUMAN			1	374	+	Esophageal squamous(21;0.00693)		125					Q6IFB7	Missense_Mutation	SNP	ENST00000313472.3	37	c.374C>T	CCDS31519.1	.	.	.	.	.	.	.	.	.	.	C	15.75	2.924245	0.52653	.	.	ENSG00000181761	ENST00000313472	T	0.01228	5.14	3.44	2.5	0.30297	GPCR, rhodopsin-like superfamily (1);	0.000000	0.52532	D	0.000065	T	0.14527	0.0351	H	0.97852	4.09	0.39542	D	0.968838	D	0.89917	1.0	D	0.91635	0.999	T	0.14699	-1.0463	10	0.87932	D	0	.	12.1106	0.53838	0.1734:0.8266:0.0:0.0	.	125	Q8N146	OR8H3_HUMAN	V	125	ENSP00000323928:A125V	ENSP00000323928:A125V	A	+	2	0	OR8H3	55646798	1.000000	0.71417	0.857000	0.33713	0.181000	0.23173	6.876000	0.75556	0.525000	0.28522	0.173000	0.16961	GCG		0.473	OR8H3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391541.1	NM_001005201		15	118	0	0	0	1	0	15	118					T	55890222	C	T	55890222	3	4	435	1	0	0	0	0	1	0	0	0	11239	768	27	1	376	1	OR8H3	11	55890222	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	17330	55890222	79116294	5137	26062											
OR8J3	81168	broad.mit.edu	37	chr11	55904632	55904632	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtatgtaagtatcagagcaaGataatgctaacagaggtgca	16	9	11	5	0	1	3	1	0	0	3	1	3	1	3	0	1	4	6	0	1	6	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:55904632G>T	ENST00000301529.1	-	1	562	c.563C>A	c.(562-564)tCt>tAt	p.S188Y		NM_001004064.1	NP_001004064.1	Q8NGG0	OR8J3_HUMAN	olfactory receptor, family 8, subfamily J, member 3	188						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(38)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	59	Esophageal squamous(21;0.00693)					ATCAGAGCAAGATAATGCTAA	0.308																																						ENST00000301529.1																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(38)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	59						c.(562-564)tCt>tAt		olfactory receptor, family 8, subfamily J, member 3							113	114	113					11																	55904632		2201	4296	6497	SO:0001583	missense	81168				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55904632G>T		CCDS31520.1	11q12.2	2012-08-09			ENSG00000167822	ENSG00000167822		"GPCR / Class A : Olfactory receptors"	15312	protein-coding gene	gene with protein product							Standard	NM_001004064		Approved		uc010riz.2	Q8NGG0	OTTHUMG00000166834	ENST00000301529.1:c.563C>A	11.37:g.55904632G>T	ENSP00000301529:p.Ser188Tyr						p.S188Y	NM_001004064.1	NP_001004064.1	Q8NGG0	OR8J3_HUMAN			1	562	-	Esophageal squamous(21;0.00693)		188					Q6IFB6|Q96RC2	Missense_Mutation	SNP	ENST00000301529.1	37	c.563C>A	CCDS31520.1	.	.	.	.	.	.	.	.	.	.	G	11.35	1.611382	0.28712	.	.	ENSG00000167822	ENST00000301529	T	0.00301	8.21	3.26	1.05	0.20165	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000005	T	0.00815	0.0027	H	0.95079	3.62	0.09310	N	1	D	0.89917	1.0	D	0.80764	0.994	T	0.31364	-0.9946	10	0.87932	D	0	.	7.5514	0.27800	0.2486:0.0:0.7514:0.0	.	188	Q8NGG0	OR8J3_HUMAN	Y	188	ENSP00000301529:S188Y	ENSP00000301529:S188Y	S	-	2	0	OR8J3	55661208	0.003000	0.15002	0.053000	0.19242	0.565000	0.35776	1.215000	0.32431	0.365000	0.24400	0.289000	0.19496	TCT		0.308	OR8J3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391542.1	NM_001004064		21	42	1	0	1.50039e-11	1	1.61536e-11	21	42					T	55904632	G	T	55904632	3	4	435	1	0	0	0	0	1	0	0	0	11242	942	33	5	386	5	OR8J3	11	55904632	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	14410	55904632	79101884	5138	26063											
OR8J3	81168	broad.mit.edu	37	chr11	55904809	55904809	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccaccaccatgtagagcagaGggttacaaatggccacatag	14	6	10	11	0	0	2	0	0	0	2	0	2	0	2	4	2	2	3	4	2	4	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:55904809G>A	ENST00000301529.1	-	1	385	c.386C>T	c.(385-387)cCt>cTt	p.P129L		NM_001004064.1	NP_001004064.1	Q8NGG0	OR8J3_HUMAN	olfactory receptor, family 8, subfamily J, member 3	129						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(38)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	59	Esophageal squamous(21;0.00693)					GTAGAGCAGAGGGTTACAAAT	0.512																																						ENST00000301529.1																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(38)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	59						c.(385-387)cCt>cTt		olfactory receptor, family 8, subfamily J, member 3							140	130	134					11																	55904809		2201	4296	6497	SO:0001583	missense	81168				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55904809G>A		CCDS31520.1	11q12.2	2012-08-09			ENSG00000167822	ENSG00000167822		"GPCR / Class A : Olfactory receptors"	15312	protein-coding gene	gene with protein product							Standard	NM_001004064		Approved		uc010riz.2	Q8NGG0	OTTHUMG00000166834	ENST00000301529.1:c.386C>T	11.37:g.55904809G>A	ENSP00000301529:p.Pro129Leu						p.P129L	NM_001004064.1	NP_001004064.1	Q8NGG0	OR8J3_HUMAN			1	385	-	Esophageal squamous(21;0.00693)		129					Q6IFB6|Q96RC2	Missense_Mutation	SNP	ENST00000301529.1	37	c.386C>T	CCDS31520.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.122599	0.77436	.	.	ENSG00000167822	ENST00000301529	T	0.01902	4.57	3.26	3.26	0.37387	GPCR, rhodopsin-like superfamily (1);	0.096591	0.46442	D	0.000287	T	0.18341	0.0440	H	0.94582	3.555	0.46044	D	0.998837	D	0.89917	1.0	D	0.97110	1.0	T	0.24404	-1.0161	10	0.87932	D	0	.	14.4534	0.67401	0.0:0.0:1.0:0.0	.	129	Q8NGG0	OR8J3_HUMAN	L	129	ENSP00000301529:P129L	ENSP00000301529:P129L	P	-	2	0	OR8J3	55661385	1.000000	0.71417	0.971000	0.41717	0.794000	0.44872	8.079000	0.89508	1.548000	0.49413	0.289000	0.19496	CCT		0.512	OR8J3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391542.1	NM_001004064		20	61	0	0	0	1	0	20	61					A	55904809	G	A	55904809	3	1	435	1	0	0	0	0	1	0	0	0	11242	1000	35	3	563	3	OR8J3	11	55904809	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	177	55904809	79101707	5139	26064											
OR5J2	282775	broad.mit.edu	37	chr11	55944981	55944981	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacagtttgagaaacaaggaCgtaaaggaggcagtgaaaag	18	5	13	5	1	0	2	0	2	0	1	0	5	0	4	0	3	1	3	0	3	6	2	rs142214796		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:55944981C>T	ENST00000312298.1	+	1	888	c.888C>T	c.(886-888)gaC>gaT	p.D296D		NM_001005492.1	NP_001005492.1	Q8NH18	OR5J2_HUMAN	olfactory receptor, family 5, subfamily J, member 2	296						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.D296D(2)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	44	Esophageal squamous(21;0.00693)					GAAACAAGGACGTAAAGGAGG	0.383													.|||	1	0.000199681	0	0	5008	,	,		21790	0.001		0	False		,,,				2504	0					ENST00000312298.1																			2	Substitution - coding silent(2)	p.D296D(2)	large_intestine(1)|kidney(1)	breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	44						c.(886-888)gaC>gaT		olfactory receptor, family 5, subfamily J, member 2							69	76	74					11																	55944981		2201	4295	6496	SO:0001819	synonymous_variant	282775				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55944981C>T	AB065595	CCDS31522.1	11q11	2012-08-09			ENSG00000174957	ENSG00000174957		"GPCR / Class A : Olfactory receptors"	19612	protein-coding gene	gene with protein product							Standard	NM_001005492		Approved		uc010rjb.2	Q8NH18	OTTHUMG00000166835	ENST00000312298.1:c.888C>T	11.37:g.55944981C>T							p.D296D	NM_001005492.1	NP_001005492.1	Q8NH18	OR5J2_HUMAN			1	888	+	Esophageal squamous(21;0.00693)		296					Q6IEU5	Silent	SNP	ENST00000312298.1	37	c.888C>T	CCDS31522.1																																																																																				0.383	OR5J2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391544.1	NM_001005492		5	15	0	0	0	1	0	5	15					T	55944981	C	T	55944981	2	4	435	1	0	0	0	0	0	0	0	1	11165	535	19	1		1	OR5J2	11	55944981	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	40172	55944981	79061535	5140	26065											
OR5T2	219464	broad.mit.edu	37	chr11	55999633	55999633	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ataacctgatttttcccaaaCatttttttcattgagtcttt	10	20	3	8	0	2	2	1	2	1	0	3	2	3	2	2	0	2	0	2	0	2	8			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:55999633C>T	ENST00000313264.4	-	1	1104	c.1029G>A	c.(1027-1029)atG>atA	p.M343I		NM_001004746.1	NP_001004746.1	Q8NGG2	OR5T2_HUMAN	olfactory receptor, family 5, subfamily T, member 2	343						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(6)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(3)	41	Esophageal squamous(21;0.00448)					TTTTCCCAAACATTTTTTTCA	0.318																																						ENST00000313264.4																			0				endometrium(6)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(3)	41						c.(1027-1029)atG>atA		olfactory receptor, family 5, subfamily T, member 2							43	42	43					11																	55999633		2201	4296	6497	SO:0001583	missense	219464				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55999633C>T	AB065838	CCDS31523.1	11q11	2012-08-09			ENSG00000181718	ENSG00000181718		"GPCR / Class A : Olfactory receptors"	15296	protein-coding gene	gene with protein product							Standard	NM_001004746		Approved		uc010rjc.2	Q8NGG2	OTTHUMG00000166851	ENST00000313264.4:c.1029G>A	11.37:g.55999633C>T	ENSP00000323688:p.Met343Ile						p.M343I	NM_001004746.1	NP_001004746.1	Q8NGG2	OR5T2_HUMAN			1	1104	-	Esophageal squamous(21;0.00448)		343					B9EGX5|Q6IFC8	Missense_Mutation	SNP	ENST00000313264.4	37	c.1029G>A	CCDS31523.1	.	.	.	.	.	.	.	.	.	.	C	6.612	0.481376	0.12581	.	.	ENSG00000181718	ENST00000313264	T	0.35789	1.29	4.61	-4.96	0.03038	.	0.637254	0.12637	U	0.451647	T	0.10380	0.0254	N	0.02765	-0.5	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.35076	-0.9803	10	0.11485	T	0.65	.	5.6053	0.17377	0.5792:0.1711:0.0:0.2497	.	343	Q8NGG2	OR5T2_HUMAN	I	343	ENSP00000323688:M343I	ENSP00000323688:M343I	M	-	3	0	OR5T2	55756209	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-1.859000	0.01657	-0.468000	0.06922	-0.804000	0.03201	ATG		0.318	OR5T2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391598.1	NM_001004746		18	33	0	0	0	1	0	18	33					T	55999633	C	T	55999633	3	4	435	1	0	0	0	0	1	0	0	0	11182	478	17	3	49	3	OR5T2	11	55999633	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	54652	55999633	79006883	5141	26066											
OR5T2	219464	broad.mit.edu	37	chr11	56000473	56000473	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacaggaagaagaagatagtCtgcagttcaagattgtctgt	15	10	11	5	0	3	4	1	0	2	4	3	5	3	5	0	1	2	2	0	1	6	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:56000473C>A	ENST00000313264.4	-	1	264	c.189G>T	c.(187-189)caG>caT	p.Q63H		NM_001004746.1	NP_001004746.1	Q8NGG2	OR5T2_HUMAN	olfactory receptor, family 5, subfamily T, member 2	63						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(6)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(3)	41	Esophageal squamous(21;0.00448)					AGAAGATAGTCTGCAGTTCAA	0.383																																						ENST00000313264.4																			0				endometrium(6)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(3)	41						c.(187-189)caG>caT		olfactory receptor, family 5, subfamily T, member 2							71	63	66					11																	56000473		2201	4296	6497	SO:0001583	missense	219464				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56000473C>A	AB065838	CCDS31523.1	11q11	2012-08-09			ENSG00000181718	ENSG00000181718		"GPCR / Class A : Olfactory receptors"	15296	protein-coding gene	gene with protein product							Standard	NM_001004746		Approved		uc010rjc.2	Q8NGG2	OTTHUMG00000166851	ENST00000313264.4:c.189G>T	11.37:g.56000473C>A	ENSP00000323688:p.Gln63His						p.Q63H	NM_001004746.1	NP_001004746.1	Q8NGG2	OR5T2_HUMAN			1	264	-	Esophageal squamous(21;0.00448)		63					B9EGX5|Q6IFC8	Missense_Mutation	SNP	ENST00000313264.4	37	c.189G>T	CCDS31523.1	.	.	.	.	.	.	.	.	.	.	C	15.13	2.743407	0.49151	.	.	ENSG00000181718	ENST00000313264	T	0.00601	6.29	4.77	-9.54	0.00572	.	0.241492	0.21234	U	0.077940	T	0.01287	0.0042	M	0.67517	2.055	0.09310	N	1	D	0.63880	0.993	D	0.64687	0.928	T	0.00220	-1.1906	10	0.66056	D	0.02	.	11.2255	0.48882	0.0:0.2881:0.0868:0.6251	.	63	Q8NGG2	OR5T2_HUMAN	H	63	ENSP00000323688:Q63H	ENSP00000323688:Q63H	Q	-	3	2	OR5T2	55757049	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-1.199000	0.03032	-1.977000	0.00994	0.458000	0.33432	CAG		0.383	OR5T2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391598.1	NM_001004746		13	23	1	0	0.000219431	1	0.000224427	13	23					A	56000473	C	A	56000473	3	1	435	1	0	0	0	0	1	0	0	0	11182	912	32	5	889	5	OR5T2	11	56000473	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	840	56000473	79006043	5142	26067											
OR8J1	219477	broad.mit.edu	37	chr11	56128085	56128085	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctggctttgatggcctatgaCcgctatgtggctatttgtaa	7	15	11	8	1	0	2	0	2	0	0	0	2	0	2	2	3	0	4	2	3	4	6	rs549456769		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:56128085C>T	ENST00000303039.3	+	1	395	c.363C>T	c.(361-363)gaC>gaT	p.D121D		NM_001005205.2	NP_001005205.2	Q8NGP2	OR8J1_HUMAN	olfactory receptor, family 8, subfamily J, member 1	121						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	47	Esophageal squamous(21;0.00448)					TGGCCTATGACCGCTATGTGG	0.488													C|||	1	0.000199681	0	0	5008	,	,		18058	0		0	False		,,,				2504	0.001					ENST00000303039.3																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	47						c.(361-363)gaC>gaT		olfactory receptor, family 8, subfamily J, member 1							153	140	145					11																	56128085		2201	4296	6497	SO:0001819	synonymous_variant	219477				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56128085C>T	AB065748	CCDS31529.1	11q11	2012-08-09			ENSG00000172487	ENSG00000172487		"GPCR / Class A : Olfactory receptors"	14855	protein-coding gene	gene with protein product							Standard	NM_001005205		Approved		uc010rjh.2	Q8NGP2	OTTHUMG00000166859	ENST00000303039.3:c.363C>T	11.37:g.56128085C>T							p.D121D	NM_001005205.2	NP_001005205.2	Q8NGP2	OR8J1_HUMAN			1	395	+	Esophageal squamous(21;0.00448)		121					B2RNQ6|B9EH63|Q6IFC2|Q96RC3	Silent	SNP	ENST00000303039.3	37	c.363C>T	CCDS31529.1																																																																																				0.488	OR8J1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391606.2	NM_001005205		7	100	0	0	0	1	0	7	100					T	56128085	C	T	56128085	2	4	435	1	0	0	0	0	0	0	0	1	11241	506	18	3		3	OR8J1	11	56128085	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	127612	56128085	78878431	5143	26068											
OR5AR1	219493	broad.mit.edu	37	chr11	56431825	56431825	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcatctcctatacctttatcCttgttgcaatcatcagaatg	10	16	4	11	0	4	1	3	0	1	1	6	1	5	1	3	0	2	2	3	0	5	6			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:56431825C>A	ENST00000302969.2	+	1	688	c.664C>A	c.(664-666)Ctt>Att	p.L222I		NM_001004730.1	NP_001004730.1	Q8NGP9	O5AR1_HUMAN	olfactory receptor, family 5, subfamily AR, member 1 (gene/pseudogene)	222						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(12)|prostate(1)|skin(3)|stomach(1)	26						TACCTTTATCCTTGTTGCAAT	0.478																																						ENST00000302969.2																			0				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(12)|prostate(1)|skin(3)|stomach(1)	26						c.(664-666)Ctt>Att		olfactory receptor, family 5, subfamily AR, member 1 (gene/pseudogene)							164	140	148					11																	56431825		2201	4296	6497	SO:0001583	missense	219493				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56431825C>A	AB065740	CCDS31535.1	11q11	2013-10-10	2013-10-10		ENSG00000172459	ENSG00000172459		"GPCR / Class A : Olfactory receptors"	15260	protein-coding gene	gene with protein product			"olfactory receptor, family 5, subfamily AR, member 1"				Standard	NM_001004730		Approved		uc010rjm.2	Q8NGP9	OTTHUMG00000154213	ENST00000302969.2:c.664C>A	11.37:g.56431825C>A	ENSP00000302639:p.Leu222Ile						p.L222I	NM_001004730.1	NP_001004730.1	Q8NGP9	O5AR1_HUMAN			1	688	+			222					Q6IF61	Missense_Mutation	SNP	ENST00000302969.2	37	c.664C>A	CCDS31535.1	.	.	.	.	.	.	.	.	.	.	C	0.220	-1.029592	0.02045	.	.	ENSG00000172459	ENST00000302969	T	0.00152	8.66	4.91	4.0	0.46444	GPCR, rhodopsin-like superfamily (1);	0.167404	0.28659	N	0.014579	T	0.00073	0.0002	N	0.11892	0.195	0.21861	N	0.999504	B	0.23377	0.084	B	0.30179	0.112	T	0.03898	-1.0994	10	0.07813	T	0.8	.	6.6419	0.22914	0.0:0.6874:0.1485:0.1641	.	222	Q8NGP9	O5AR1_HUMAN	I	222	ENSP00000302639:L222I	ENSP00000302639:L222I	L	+	1	0	OR5AR1	56188401	0.000000	0.05858	0.977000	0.42913	0.270000	0.26580	-0.289000	0.08365	1.294000	0.44707	0.573000	0.79308	CTT		0.478	OR5AR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334434.1	NM_001004730		41	57	1	0	3.66854e-30	1	4.11036e-30	41	57					A	56431825	C	A	56431825	3	1	435	1	0	0	0	0	1	0	0	0	11145	681	24	5	666	5	OR5AR1	11	56431825	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	303740	56431825	78574691	5144	26069											
OR9G1	390174	broad.mit.edu	37	chr11	56468348	56468348	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttcaatcatcaccaagaaaaCgttttcctttaacttctgcc	12	14	3	12	1	4	1	3	0	1	1	5	1	5	1	3	0	3	1	3	0	5	6	rs543443299		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:56468348C>T	ENST00000312153.1	+	1	485	c.485C>T	c.(484-486)aCg>aTg	p.T162M		NM_001005213.1	NP_001005213.1	Q8NH87	OR9G1_HUMAN	olfactory receptor, family 9, subfamily G, member 1	162						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|kidney(1)|lung(25)|stomach(2)|upper_aerodigestive_tract(1)	31						ACCAAGAAAACGTTTTCCTTT	0.448													C|||	1	0.000199681	0	0.0014	5008	,	,		21535	0		0	False		,,,				2504	0					ENST00000312153.1																			0				breast(2)|kidney(1)|lung(25)|stomach(2)|upper_aerodigestive_tract(1)	31						c.(484-486)aCg>aTg		olfactory receptor, family 9, subfamily G, member 1							170	162	165					11																	56468348		2201	4296	6497	SO:0001583	missense	390174							g.chr11:56468348C>T	AB065500	CCDS31536.1	11q11	2012-08-09			ENSG00000174914	ENSG00000174914		"GPCR / Class A : Olfactory receptors"	15319	protein-coding gene	gene with protein product				OR9G5			Standard	NM_001005213		Approved			Q8NH87	OTTHUMG00000167112	ENST00000312153.1:c.485C>T	11.37:g.56468348C>T	ENSP00000309012:p.Thr162Met						p.T162M	NM_001005213.1	NP_001005213.1					1	485	+								Q6IEU9|Q8NGQ0	Missense_Mutation	SNP	ENST00000312153.1	37	c.485C>T	CCDS31536.1	.	.	.	.	.	.	.	.	.	.	C	7.085	0.571029	0.13623	.	.	ENSG00000174914	ENST00000312153	T	0.00265	8.39	4.52	1.18	0.20946	GPCR, rhodopsin-like superfamily (1);	0.242889	0.29565	N	0.011796	T	0.00300	0.0009	L	0.42245	1.32	0.09310	N	1	D	0.76494	0.999	D	0.72338	0.977	T	0.54846	-0.8232	10	0.23891	T	0.37	-1.4606	8.2429	0.31671	0.0:0.5193:0.0:0.4807	.	162	Q8NH87	OR9G1_HUMAN	M	162	ENSP00000309012:T162M	ENSP00000309012:T162M	T	+	2	0	OR9G1	56224924	0.000000	0.05858	0.006000	0.13384	0.107000	0.19398	-1.086000	0.03386	0.115000	0.18071	-0.242000	0.12053	ACG		0.448	OR9G1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393253.1	NM_001005213		17	67	0	0	0	1	0	17	67					T	56468348	C	T	56468348	3	4	435	1	0	0	0	0	1	0	0	0	11250	536	19	1	487	1	OR9G1	11	56468348	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	36523	56468348	78538168	5145	26070											
APLNR	187	broad.mit.edu	37	chr11	57003519	57003519	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccacagcagagcatggaggtGcaggcctggcggaagcgggg	9	3	19	10	2	0	1	0	0	0	1	0	3	0	3	2	7	4	3	2	7	1	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:57003519G>C	ENST00000606794.1	-	1	1156	c.960C>G	c.(958-960)tgC>tgG	p.C320W		NM_005161.4	NP_005152.1	P35414	APJ_HUMAN	apelin receptor	320					G-protein coupled receptor signaling pathway (GO:0007186)|gastrulation (GO:0007369)|heart development (GO:0007507)|regulation of body fluid levels (GO:0050878)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|receptor activity (GO:0004872)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32						GCATGGAGGTGCAGGCCTGGC	0.617																																						ENST00000606794.1																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32						c.(958-960)tgC>tgG		apelin receptor							74	46	56					11																	57003519		2201	4296	6497	SO:0001583	missense	187					integral to plasma membrane	G-protein coupled receptor activity	g.chr11:57003519G>C	U03642	CCDS7950.1	11q12.1	2012-08-08	2008-05-12	2008-05-12	ENSG00000134817	ENSG00000134817			339	protein-coding gene	gene with protein product	"APJ (apelin) receptor"	600052	"angiotensin II receptor-like 1"	AGTRL1		8294032, 14622440	Standard	NM_005161		Approved	FLJ90771, APJ, APJR	uc001njo.3	P35414	OTTHUMG00000167021	ENST00000606794.1:c.960C>G	11.37:g.57003519G>C	ENSP00000475344:p.Cys320Trp						p.C320W	NM_005161.4	NP_005152.1	P35414	APJ_HUMAN			1	1156	-			320						Missense_Mutation	SNP	ENST00000606794.1	37	c.960C>G	CCDS7950.1	.	.	.	.	.	.	.	.	.	.	G	13.60	2.286307	0.40494	.	.	ENSG00000134817	ENST00000257254;ENST00000326830;ENST00000444275	T	0.37058	1.22	5.46	2.61	0.31194	.	0.000000	0.85682	D	0.000000	T	0.37625	0.1010	N	0.14661	0.345	0.58432	D	0.999992	D	0.89917	1.0	D	0.97110	1.0	T	0.17837	-1.0356	10	0.56958	D	0.05	-36.1227	7.882	0.29627	0.3252:0.0:0.6748:0.0	.	320	P35414	APJ_HUMAN	W	320;201;239	ENSP00000257254:C320W	ENSP00000257254:C320W	C	-	3	2	APLNR	56760095	0.065000	0.20965	0.942000	0.38095	0.992000	0.81027	0.463000	0.21972	0.286000	0.22352	0.655000	0.94253	TGC		0.617	APLNR-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000470575.1	NM_005161		8	18	0	0	0	1	0	8	18					C	57003519	G	C	57003519	3	2	435	1	0	0	0	0	1	0	0	0	777	1311	46	5	186	5	APLNR	11	57003519	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	535171	57003519	78002997	5146	26071											
APLNR	187	broad.mit.edu	37	chr11	57003781	57003781	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggccctcgatgcgttccttgCggaagtggccagcgatggtt	5	10	15	11	4	0	0	0	0	0	0	2	3	1	1	3	4	3	2	3	4	1	3	rs147193169	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:57003781C>T	ENST00000606794.1	-	1	894	c.698G>A	c.(697-699)cGc>cAc	p.R233H		NM_005161.4	NP_005152.1	P35414	APJ_HUMAN	apelin receptor	233					G-protein coupled receptor signaling pathway (GO:0007186)|gastrulation (GO:0007369)|heart development (GO:0007507)|regulation of body fluid levels (GO:0050878)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|receptor activity (GO:0004872)	p.R233L(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32						GCGTTCCTTGCGGAAGTGGCC	0.622													C|||	2	0.000399361	0.0015	0	5008	,	,		22723	0		0	False		,,,				2504	0					ENST00000606794.1																			1	Substitution - Missense(1)	p.R233L(1)	lung(1)	breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32						c.(697-699)cGc>cAc		apelin receptor		C	HIS/ARG	1,4401	2.1+/-5.4	0,1,2200	99	84	89		698	5.6	1	11	dbSNP_134	89	0,8592		0,0,4296	no	missense	APLNR	NM_005161.4	29	0,1,6496	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	233/381	57003781	1,12993	2201	4296	6497	SO:0001583	missense	187					integral to plasma membrane	G-protein coupled receptor activity	g.chr11:57003781C>T	U03642	CCDS7950.1	11q12.1	2012-08-08	2008-05-12	2008-05-12	ENSG00000134817	ENSG00000134817			339	protein-coding gene	gene with protein product	"APJ (apelin) receptor"	600052	"angiotensin II receptor-like 1"	AGTRL1		8294032, 14622440	Standard	NM_005161		Approved	FLJ90771, APJ, APJR	uc001njo.3	P35414	OTTHUMG00000167021	ENST00000606794.1:c.698G>A	11.37:g.57003781C>T	ENSP00000475344:p.Arg233His						p.R233H	NM_005161.4	NP_005152.1	P35414	APJ_HUMAN			1	894	-			233						Missense_Mutation	SNP	ENST00000606794.1	37	c.698G>A	CCDS7950.1	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	C	18.74	3.687516	0.68157	2.27E-4	0.0	ENSG00000134817	ENST00000257254;ENST00000326830;ENST00000444275	T	0.42513	0.97	5.6	5.6	0.85130	GPCR, rhodopsin-like superfamily (1);	0.190122	0.46442	D	0.000297	T	0.53012	0.1770	L	0.41027	1.25	0.38963	D	0.95859	D	0.89917	1.0	D	0.71656	0.974	T	0.52741	-0.8535	10	0.44086	T	0.13	-19.0514	12.555	0.56248	0.0:0.9232:0.0:0.0768	.	233	P35414	APJ_HUMAN	H	233;114;152	ENSP00000257254:R233H	ENSP00000257254:R233H	R	-	2	0	APLNR	56760357	0.993000	0.37304	1.000000	0.80357	0.999000	0.98932	0.887000	0.28254	2.627000	0.88993	0.650000	0.86243	CGC		0.622	APLNR-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000470575.1	NM_005161		17	19	0	0	0	1	0	17	19					T	57003781	C	T	57003781	3	4	435	1	0	0	0	0	1	0	0	0	777	768	27	1	448	1	APLNR	11	57003781	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	262	57003781	78002735	5147	26072											
TNKS1BP1	85456	broad.mit.edu	37	chr11	57077271	57077271	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccaaagcttctgtcctgggCgtcaagggtcctggagctgc	6	10	13	12	1	2	0	1	0	1	0	5	1	5	1	3	3	3	2	3	3	2	1	rs148640580	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:57077271C>T	ENST00000532437.1	-	5	3225	c.2914G>A	c.(2914-2916)Gcc>Acc	p.A972T	TNKS1BP1_ENST00000358252.3_Missense_Mutation_p.A972T|TNKS1BP1_ENST00000530920.1_5'Flank			Q9C0C2	TB182_HUMAN	tankyrase 1 binding protein 1, 182kDa	972	Acidic.				gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|RNA metabolic process (GO:0016070)|telomere maintenance via telomerase (GO:0007004)	CCR4-NOT complex (GO:0030014)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nuclear telomeric heterochromatin (GO:0005724)|nucleus (GO:0005634)	ankyrin binding (GO:0030506)|enzyme binding (GO:0019899)			breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	64		all_epithelial(135;0.21)				CTGTCCTGGGCGTCAAGGGTC	0.577																																						ENST00000532437.1																			0				breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						c.(2914-2916)Gcc>Acc		tankyrase 1 binding protein 1, 182kDa		C	THR/ALA	0,4402		0,0,2201	91	97	95		2914	-6.1	0	11	dbSNP_134	95	2,8590	2.2+/-6.3	0,2,4294	no	missense	TNKS1BP1	NM_033396.2	58	0,2,6495	TT,TC,CC		0.0233,0.0,0.0154	benign	972/1730	57077271	2,12992	2201	4296	6497	SO:0001583	missense	85456				nuclear-transcribed mRNA poly(A) tail shortening|telomere maintenance via telomerase	cytoskeleton|cytosol|nuclear telomeric heterochromatin	ankyrin binding|enzyme binding	g.chr11:57077271C>T	AB051528	CCDS7951.1	11q12.2	2008-07-21			ENSG00000149115	ENSG00000149115			19081	protein-coding gene	gene with protein product		607104				11854288	Standard	NM_033396		Approved	TAB182, KIAA1741, FLJ45975	uc001njs.3	Q9C0C2	OTTHUMG00000167022	ENST00000532437.1:c.2914G>A	11.37:g.57077271C>T	ENSP00000437271:p.Ala972Thr					TNKS1BP1_ENST00000358252.3_Missense_Mutation_p.A972T	p.A972T			Q9C0C2	TB182_HUMAN			5	3225	-		all_epithelial(135;0.21)	972			Acidic.		A7E2F8|Q6PJ35|Q6ZV74	Missense_Mutation	SNP	ENST00000532437.1	37	c.2914G>A	CCDS7951.1	.	.	.	.	.	.	.	.	.	.	C	0.010	-1.795840	0.00617	0.0	2.33E-4	ENSG00000149115	ENST00000358252;ENST00000532437	T;T	0.30714	1.52;1.52	4.4	-6.1	0.02138	.	1.350900	0.05222	N	0.508773	T	0.10594	0.0259	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.20773	-1.0265	10	0.10902	T	0.67	0.0572	1.7502	0.02970	0.5177:0.1542:0.1268:0.2013	.	972	Q9C0C2	TB182_HUMAN	T	972	ENSP00000350990:A972T;ENSP00000437271:A972T	ENSP00000350990:A972T	A	-	1	0	TNKS1BP1	56833847	0.000000	0.05858	0.003000	0.11579	0.036000	0.12997	-0.592000	0.05747	-1.428000	0.01989	-0.448000	0.05591	GCC		0.577	TNKS1BP1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392455.1	NM_033396		17	76	0	0	0	1	0	17	76					T	57077271	C	T	57077271	3	4	435	1	0	0	0	0	1	0	0	0	16317	768	27	1	2299	1	TNKS1BP1	11	57077271	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	73490	57077271	77929245	5148	26073											
TNKS1BP1	85456	broad.mit.edu	37	chr11	57087833	57087833	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaagcgctctgaggctgggcGgaaaggggcaggggccttcc	7	5	19	10	2	1	1	0	1	1	0	2	3	2	2	2	7	1	3	2	7	2	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:57087833G>A	ENST00000532437.1	-	2	759	c.448C>T	c.(448-450)Cgc>Tgc	p.R150C	TNKS1BP1_ENST00000358252.3_Missense_Mutation_p.R150C			Q9C0C2	TB182_HUMAN	tankyrase 1 binding protein 1, 182kDa	150	Pro-rich.				gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|RNA metabolic process (GO:0016070)|telomere maintenance via telomerase (GO:0007004)	CCR4-NOT complex (GO:0030014)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nuclear telomeric heterochromatin (GO:0005724)|nucleus (GO:0005634)	ankyrin binding (GO:0030506)|enzyme binding (GO:0019899)			breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	64		all_epithelial(135;0.21)				GAGGCTGGGCGGAAAGGGGCA	0.667																																						ENST00000532437.1																			0				breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						c.(448-450)Cgc>Tgc		tankyrase 1 binding protein 1, 182kDa							48	56	54					11																	57087833		2201	4296	6497	SO:0001583	missense	85456				nuclear-transcribed mRNA poly(A) tail shortening|telomere maintenance via telomerase	cytoskeleton|cytosol|nuclear telomeric heterochromatin	ankyrin binding|enzyme binding	g.chr11:57087833G>A	AB051528	CCDS7951.1	11q12.2	2008-07-21			ENSG00000149115	ENSG00000149115			19081	protein-coding gene	gene with protein product		607104				11854288	Standard	NM_033396		Approved	TAB182, KIAA1741, FLJ45975	uc001njs.3	Q9C0C2	OTTHUMG00000167022	ENST00000532437.1:c.448C>T	11.37:g.57087833G>A	ENSP00000437271:p.Arg150Cys					TNKS1BP1_ENST00000358252.3_Missense_Mutation_p.R150C	p.R150C			Q9C0C2	TB182_HUMAN			2	759	-		all_epithelial(135;0.21)	150			Pro-rich.		A7E2F8|Q6PJ35|Q6ZV74	Missense_Mutation	SNP	ENST00000532437.1	37	c.448C>T	CCDS7951.1	.	.	.	.	.	.	.	.	.	.	G	19.68	3.873623	0.72180	.	.	ENSG00000149115	ENST00000358252;ENST00000532437	T;T	0.38240	1.15;1.15	4.37	4.37	0.52481	.	0.000000	0.33938	N	0.004416	T	0.42404	0.1201	N	0.24115	0.695	0.37717	D	0.924762	D	0.89917	1.0	D	0.79108	0.992	T	0.49224	-0.8962	10	0.72032	D	0.01	-10.8237	9.5994	0.39593	0.0983:0.0:0.9017:0.0	.	150	Q9C0C2	TB182_HUMAN	C	150	ENSP00000350990:R150C;ENSP00000437271:R150C	ENSP00000350990:R150C	R	-	1	0	TNKS1BP1	56844409	0.992000	0.36948	0.927000	0.36925	0.940000	0.58332	0.733000	0.26087	2.225000	0.72522	0.462000	0.41574	CGC		0.667	TNKS1BP1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392455.1	NM_033396		20	44	0	0	0	1	0	20	44					A	57087833	G	A	57087833	3	1	435	1	0	0	0	0	1	0	0	0	16317	1116	39	2	4777	2	TNKS1BP1	11	57087833	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	10562	57087833	77918683	5149	26074											
SSRP1	6749	broad.mit.edu	37	chr11	57095226	57095226	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcccttccagatctcgcctGccttcttggaaagatccgtg	6	13	8	14	2	2	2	0	0	2	2	6	3	5	3	5	1	1	0	5	1	1	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:57095226G>A	ENST00000278412.2	-	14	2008	c.1742C>T	c.(1741-1743)gCa>gTa	p.A581V	snoU13_ENST00000459327.1_RNA|TNKS1BP1_ENST00000358252.3_5'Flank|RP11-872D17.4_ENST00000534162.1_RNA	NM_003146.2	NP_003137.1	Q08945	SSRP1_HUMAN	structure specific recognition protein 1	581					DNA repair (GO:0006281)|DNA replication (GO:0006260)|gene expression (GO:0010467)|positive regulation of viral transcription (GO:0050434)|regulation of transcription, DNA-templated (GO:0006355)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|prostate(4)	23						GATCTCGCCTGCCTTCTTGGA	0.542																																					Colon(89;1000 1340 6884 23013 41819)	ENST00000278412.2																			0				breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|prostate(4)	23						c.(1741-1743)gCa>gTa		structure specific recognition protein 1							174	174	174					11																	57095226		2201	4296	6497	SO:0001583	missense	6749				DNA repair|DNA replication|positive regulation of viral transcription|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction	chromosome|cytoplasm|nucleoplasm	DNA binding|protein binding	g.chr11:57095226G>A	M86737	CCDS7952.1	11q12	2008-02-05			ENSG00000149136	ENSG00000149136			11327	protein-coding gene	gene with protein product	"facilitates chromatin remodeling 80 kDa subunit"	604328				1372440	Standard	NM_003146		Approved	FACT80	uc001njt.3	Q08945	OTTHUMG00000167024	ENST00000278412.2:c.1742C>T	11.37:g.57095226G>A	ENSP00000278412:p.Ala581Val					RP11-872D17.4_ENST00000534162.1_RNA	p.A581V	NM_003146.2	NP_003137.1	Q08945	SSRP1_HUMAN			14	2008	-			581					Q5BJG8	Missense_Mutation	SNP	ENST00000278412.2	37	c.1742C>T	CCDS7952.1	.	.	.	.	.	.	.	.	.	.	G	29.3	4.994780	0.93167	.	.	ENSG00000149136	ENST00000278412	D	0.97752	-4.52	5.8	4.89	0.63831	High mobility group, superfamily (1);High mobility group, HMG1/HMG2 (4);	0.000000	0.85682	D	0.000000	D	0.94545	0.8243	L	0.27053	0.805	0.80722	D	1	B	0.22746	0.074	B	0.20955	0.032	D	0.91979	0.5593	10	0.44086	T	0.13	.	14.5631	0.68153	0.0709:0.0:0.9291:0.0	.	581	Q08945	SSRP1_HUMAN	V	581	ENSP00000278412:A581V	ENSP00000278412:A581V	A	-	2	0	SSRP1	56851802	1.000000	0.71417	0.966000	0.40874	0.942000	0.58702	9.177000	0.94849	1.456000	0.47831	-0.140000	0.14226	GCA		0.542	SSRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392460.1	NM_003146		45	65	0	0	0	1	0	45	65					A	57095226	G	A	57095226	3	1	435	1	0	0	0	0	1	0	0	0	15193	1319	46	3	403	3	SSRP1	11	57095226	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	7393	57095226	77911290	5150	26075											
SSRP1	6749	broad.mit.edu	37	chr11	57099223	57099223	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacgagtagtagtggtaccaCgagcaaagttgacaaaggag	16	6	13	6	2	0	1	0	1	0	0	0	4	0	2	1	2	3	5	1	2	6	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:57099223C>T	ENST00000278412.2	-	9	1408	c.1142G>A	c.(1141-1143)cGt>cAt	p.R381H	snoU13_ENST00000459327.1_RNA	NM_003146.2	NP_003137.1	Q08945	SSRP1_HUMAN	structure specific recognition protein 1	381					DNA repair (GO:0006281)|DNA replication (GO:0006260)|gene expression (GO:0010467)|positive regulation of viral transcription (GO:0050434)|regulation of transcription, DNA-templated (GO:0006355)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|prostate(4)	23						AGTGGTACCACGAGCAAAGTT	0.522																																					Colon(89;1000 1340 6884 23013 41819)	ENST00000278412.2																			0				breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|prostate(4)	23						c.(1141-1143)cGt>cAt		structure specific recognition protein 1							126	124	125					11																	57099223		2201	4296	6497	SO:0001583	missense	6749				DNA repair|DNA replication|positive regulation of viral transcription|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction	chromosome|cytoplasm|nucleoplasm	DNA binding|protein binding	g.chr11:57099223C>T	M86737	CCDS7952.1	11q12	2008-02-05			ENSG00000149136	ENSG00000149136			11327	protein-coding gene	gene with protein product	"facilitates chromatin remodeling 80 kDa subunit"	604328				1372440	Standard	NM_003146		Approved	FACT80	uc001njt.3	Q08945	OTTHUMG00000167024	ENST00000278412.2:c.1142G>A	11.37:g.57099223C>T	ENSP00000278412:p.Arg381His						p.R381H	NM_003146.2	NP_003137.1	Q08945	SSRP1_HUMAN			9	1408	-			381					Q5BJG8	Missense_Mutation	SNP	ENST00000278412.2	37	c.1142G>A	CCDS7952.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.135765	0.77662	.	.	ENSG00000149136	ENST00000278412	T	0.57107	0.42	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	T	0.72661	0.3488	M	0.91561	3.22	0.80722	D	1	P	0.50819	0.939	P	0.50352	0.638	T	0.79257	-0.1878	10	0.87932	D	0	-3.3593	19.5069	0.95121	0.0:1.0:0.0:0.0	.	381	Q08945	SSRP1_HUMAN	H	381	ENSP00000278412:R381H	ENSP00000278412:R381H	R	-	2	0	SSRP1	56855799	1.000000	0.71417	1.000000	0.80357	0.472000	0.32918	7.239000	0.78182	2.941000	0.99782	0.655000	0.94253	CGT		0.522	SSRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392460.1	NM_003146		10	10	0	0	0	1	0	10	10					T	57099223	C	T	57099223	3	4	435	1	0	0	0	0	1	0	0	0	15193	536	19	1	1023	1	SSRP1	11	57099223	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	3997	57099223	77907293	5151	26076											
P2RX3	5024	broad.mit.edu	37	chr11	57137383	57137383	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gagactacgctgaaaatcgcGgctttgaccaacccagtgta	12	8	10	11	3	0	3	0	2	0	1	1	4	0	3	2	1	2	3	2	1	5	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:57137383G>A	ENST00000263314.2	+	12	1141	c.1107G>A	c.(1105-1107)gcG>gcA	p.A369A		NM_002559.3	NP_002550.2	P56373	P2RX3_HUMAN	purinergic receptor P2X, ligand-gated ion channel, 3	369					behavioral response to pain (GO:0048266)|cation transmembrane transport (GO:0098655)|neuromuscular synaptic transmission (GO:0007274)|neuronal action potential (GO:0019228)|peristalsis (GO:0030432)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of calcium-mediated signaling (GO:0050850)|protein homooligomerization (GO:0051260)|purinergic nucleotide receptor signaling pathway (GO:0035590)|regulation of synaptic plasticity (GO:0048167)|response to ATP (GO:0033198)|response to carbohydrate (GO:0009743)|response to cold (GO:0009409)|response to heat (GO:0009408)|response to hypoxia (GO:0001666)|response to mechanical stimulus (GO:0009612)|sensory perception of taste (GO:0050909)|signal transduction (GO:0007165)|transport (GO:0006810)|urinary bladder smooth muscle contraction (GO:0014832)	dendritic spine (GO:0043197)|Golgi apparatus (GO:0005794)|integral component of nuclear inner membrane (GO:0005639)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|neuronal cell body (GO:0043025)|receptor complex (GO:0043235)|rough endoplasmic reticulum (GO:0005791)|terminal bouton (GO:0043195)	ATP binding (GO:0005524)|extracellular ATP-gated cation channel activity (GO:0004931)|purinergic nucleotide receptor activity (GO:0001614)			endometrium(4)|kidney(2)|large_intestine(4)|lung(15)|prostate(1)	26						TGAAAATCGCGGCTTTGACCA	0.547																																						ENST00000263314.2																			0				endometrium(4)|kidney(2)|large_intestine(4)|lung(15)|prostate(1)	26						c.(1105-1107)gcG>gcA		purinergic receptor P2X, ligand-gated ion channel, 3							109	90	97					11																	57137383		2201	4296	6497	SO:0001819	synonymous_variant	5024				positive regulation of calcium ion transport into cytosol|positive regulation of calcium-mediated signaling	integral to plasma membrane	ATP binding|extracellular ATP-gated cation channel activity|purinergic nucleotide receptor activity	g.chr11:57137383G>A	Y07683	CCDS7953.1	11q12	2012-01-17			ENSG00000109991	ENSG00000109991		"Purinergic receptors", "Ligand-gated ion channels / Purinergic receptors, ionotropic"	8534	protein-coding gene	gene with protein product		600843				9221902	Standard	NM_002559		Approved	P2X3	uc001nju.3	P56373	OTTHUMG00000167025	ENST00000263314.2:c.1107G>A	11.37:g.57137383G>A							p.A369A	NM_002559.3	NP_002550.2	P56373	P2RX3_HUMAN			12	1141	+			369					Q6DK37|Q9UQB6	Silent	SNP	ENST00000263314.2	37	c.1107G>A	CCDS7953.1																																																																																				0.547	P2RX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392465.1	NM_002559		4	10	0	0	0	1	0	4	10					A	57137383	G	A	57137383	2	1	435	1	0	0	0	0	0	0	0	1	11341	1103	39	2		2	P2RX3	11	57137383	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	38160	57137383	77869133	5152	26077											
PRG3	10394	broad.mit.edu	37	chr11	57147265	57147266	+	Frame_Shift_Ins	INS	-	-	G																															tgtctctaggctctccagatINSggggggcatcattctctggg																										TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:57147265_57147266insG	ENST00000287143.2	-	3	185_186	c.76_77insC	c.(76-78)catfs	p.H26fs		NM_006093.3	NP_006084.2	Q8TBJ4	LPPR1_HUMAN	proteoglycan 3	0					nervous system development (GO:0007399)	integral component of membrane (GO:0016021)	catalytic activity (GO:0003824)			large_intestine(3)|lung(5)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	13						GCTCTCCAGATGGGGGGCATCA	0.554																																					Melanoma(154;1456 2519 19358 45229)	ENST00000287143.2																			0				large_intestine(3)|lung(5)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	13						c.(76-78)tctfs		proteoglycan 3																																				SO:0001589	frameshift_variant	10394				basophil activation|histamine biosynthetic process|immune response|leukotriene biosynthetic process|negative regulation of translation|neutrophil activation|positive regulation of interleukin-8 biosynthetic process|superoxide anion generation		sugar binding	g.chr11:57147265_57147266insG	AF132209	CCDS7954.1	11q12.1	2008-02-05			ENSG00000156575	ENSG00000156575			9363	protein-coding gene	gene with protein product		606814				10318872, 11170744	Standard	NM_006093		Approved	MBPH	uc001njv.2	Q9Y2Y8	OTTHUMG00000167026	ENST00000287143.2:c.77dupC	11.37:g.57147271_57147271dupG	ENSP00000287143:p.His26fs						p.S26fs	NM_006093.3	NP_006084.2	Q9Y2Y8	PRG3_HUMAN			3	185_186	-			26					Q5VX23|Q9NXE2	Frame_Shift_Ins	INS	ENST00000287143.2	37	c.76_77insC	CCDS7954.1																																																																																				0.554	PRG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392467.1	NM_006093		10	53						10	53	---	---	---	---	G	57147266	-	G	57147265	7	5	435	1	0	1	1	0	0	0	0	0	12480	1464	51	0	616	0	PRG3	11	57147265	Frame_Shift_Ins	INS	-	TCGA-XK-AAIW-01A-11D-A41K-08	9882	57147265	77859251	5153	26078											
SLC43A1	8501	broad.mit.edu	37	chr11	57268766	57268766	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggtcacagcctggccacctgCgctgctcatcctgggtggtg	4	9	14	14	1	2	0	2	0	0	0	3	0	3	0	4	4	3	2	4	4	0	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:57268766C>T	ENST00000278426.3	-	3	546	c.191G>A	c.(190-192)cGc>cAc	p.R64H	SLC43A1_ENST00000528450.1_Missense_Mutation_p.R64H|SLC43A1_ENST00000533515.1_5'Flank	NM_003627.5	NP_003618.1			solute carrier family 43 (amino acid system L transporter), member 1											breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	19						TGGCCACCTGCGCTGCTCATC	0.627																																						ENST00000278426.3																			0				breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	19						c.(190-192)cGc>cAc		solute carrier family 43 (amino acid system L transporter), member 1							100	83	89					11																	57268766		2201	4296	6497	SO:0001583	missense	8501				cellular nitrogen compound metabolic process|ion transport	integral to plasma membrane	neutral amino acid transmembrane transporter activity	g.chr11:57268766C>T	AF045584	CCDS7958.1	11q12.1	2013-07-17	2013-07-17	2003-09-12	ENSG00000149150	ENSG00000149150		"Solute carriers"	9225	protein-coding gene	gene with protein product		603733	"prostate cancer overexpressed gene 1"	POV1		9255310, 9722952	Standard	NM_003627		Approved	R00504, PB39	uc001nkk.3	O75387	OTTHUMG00000167030	ENST00000278426.3:c.191G>A	11.37:g.57268766C>T	ENSP00000278426:p.Arg64His					SLC43A1_ENST00000528450.1_Missense_Mutation_p.R64H	p.R64H	NM_003627.5	NP_003618.1	O75387	LAT3_HUMAN			3	546	-			64						Missense_Mutation	SNP	ENST00000278426.3	37	c.191G>A	CCDS7958.1	.	.	.	.	.	.	.	.	.	.	c	11.50	1.656042	0.29425	.	.	ENSG00000149150	ENST00000278426;ENST00000528450;ENST00000533066;ENST00000533263	T;T;T;T	0.50277	0.75;0.75;0.75;0.75	4.67	-9.28	0.00656	Major facilitator superfamily domain, general substrate transporter (1);	2.292740	0.01567	N	0.020403	T	0.20740	0.0499	N	0.04508	-0.205	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.14755	-1.0461	10	0.42905	T	0.14	0.1474	5.2502	0.15517	0.118:0.1279:0.095:0.6591	.	64	O75387	LAT3_HUMAN	H	64	ENSP00000278426:R64H;ENSP00000435673:R64H;ENSP00000435647:R64H;ENSP00000435486:R64H	ENSP00000278426:R64H	R	-	2	0	SLC43A1	57025342	0.000000	0.05858	0.000000	0.03702	0.059000	0.15707	-1.094000	0.03359	-1.429000	0.01987	-0.144000	0.13903	CGC		0.627	SLC43A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392541.1	NM_003627		9	51	0	0	0	1	0	9	51					T	57268766	C	T	57268766	3	4	435	1	0	0	0	0	1	0	0	0	14632	768	27	1	1540	1	SLC43A1	11	57268766	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	121501	57268766	77737750	5154	26079											
SERPING1	710	broad.mit.edu	37	chr11	57367677	57367677	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggtccttctgcccaggacCtgttactctctgctctgact	4	14	9	14	0	3	1	0	1	3	0	5	2	4	2	3	2	3	2	3	2	1	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:57367677C>A	ENST00000278407.4	+	3	604	c.377C>A	c.(376-378)cCt>cAt	p.P126H	SERPING1_ENST00000378324.2_Missense_Mutation_p.P74H|SERPING1_ENST00000403558.1_Missense_Mutation_p.P160H|SERPING1_ENST00000340687.6_Missense_Mutation_p.P126H|SERPING1_ENST00000378323.4_Missense_Mutation_p.P131H	NM_000062.2	NP_000053.2	P05155	IC1_HUMAN	serpin peptidase inhibitor, clade G (C1 inhibitor), member 1	126			Missing (in HAE; phenotype consistent with hereditary angioedema type 2). {ECO:0000269|PubMed:12773530}.		blood circulation (GO:0008015)|blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|complement activation, classical pathway (GO:0006958)|fibrinolysis (GO:0042730)|innate immune response (GO:0045087)|negative regulation of complement activation, lectin pathway (GO:0001869)|negative regulation of endopeptidase activity (GO:0010951)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule lumen (GO:0031093)	serine-type endopeptidase inhibitor activity (GO:0004867)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(11)|pancreas(2)|prostate(1)|urinary_tract(1)	27						TGCCCAGGACCTGTTACTCTC	0.562																																						ENST00000403558.1																			0				central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(11)|pancreas(2)|prostate(1)|urinary_tract(1)	27	GRCh37	CI087129	SERPING1	I		c.(478-480)cCt>cAt		serpin peptidase inhibitor, clade G (C1 inhibitor), member 1							185	195	192					11																	57367677		2201	4296	6497	SO:0001583	missense	710				blood circulation|blood coagulation, intrinsic pathway|complement activation, classical pathway|innate immune response|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation	extracellular space|platelet alpha granule lumen	protein binding|serine-type endopeptidase inhibitor activity	g.chr11:57367677C>A	X54486	CCDS7962.1	11q12.1	2014-09-17	2008-07-31		ENSG00000149131	ENSG00000149131		"Serine (or cysteine) peptidase inhibitors"	1228	protein-coding gene	gene with protein product	"plasma protease C1 inhibitor", "angioedema, hereditary"	606860	"serine (or cysteine) proteinase inhibitor, clade G (C1 inhibitor), member 1, (angioedema, hereditary)"	C1NH		2026152, 24172014	Standard	NM_000062		Approved	C1IN, C1-INH, HAE1, HAE2	uc001nkp.1	P05155	OTTHUMG00000150304	ENST00000278407.4:c.377C>A	11.37:g.57367677C>A	ENSP00000278407:p.Pro126His					SERPING1_ENST00000278407.4_Missense_Mutation_p.P126H|SERPING1_ENST00000378324.2_Missense_Mutation_p.P74H|SERPING1_ENST00000378323.4_Missense_Mutation_p.P131H|SERPING1_ENST00000340687.6_Missense_Mutation_p.P126H	p.P160H	NM_001032295.1	NP_001027466.1	P05155	IC1_HUMAN			2	845	+			126					A6NMU0|A8KAI9|B2R6L5|B4E1F0|B4E1H2|Q16304|Q547W3|Q59EI5|Q7Z455|Q96FE0|Q9UC49|Q9UCF9	Missense_Mutation	SNP	ENST00000278407.4	37	c.479C>A	CCDS7962.1	.	.	.	.	.	.	.	.	.	.	C	17.66	3.445451	0.63178	.	.	ENSG00000149131	ENST00000405496;ENST00000278407;ENST00000340687;ENST00000378323;ENST00000378324;ENST00000403558	D;D;D;D;D;D	0.94650	-3.48;-2.1;-2.2;-2.09;-2.05;-2.23	5.94	5.03	0.67393	Serpin domain (1);	0.303544	0.37393	N	0.002115	D	0.95875	0.8657	L	0.57536	1.79	0.09310	N	0.999995	D;D;D;D	0.89917	0.998;1.0;0.998;0.998	P;D;P;P	0.72625	0.873;0.978;0.818;0.818	D	0.90629	0.4565	10	0.59425	D	0.04	.	10.9695	0.47431	0.0:0.9144:0.0:0.0856	.	131;160;126;126	B4E1F0;E9PGN7;E9KL26;P05155	.;.;.;IC1_HUMAN	H	126;126;126;131;74;160	ENSP00000384561:P126H;ENSP00000278407:P126H;ENSP00000341861:P126H;ENSP00000367574:P131H;ENSP00000367575:P74H;ENSP00000384420:P160H	ENSP00000278407:P126H	P	+	2	0	SERPING1	57124253	0.175000	0.23083	0.022000	0.16811	0.178000	0.23041	2.242000	0.43106	1.517000	0.48917	0.561000	0.74099	CCT		0.562	SERPING1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317465.1	NM_000062		58	97	1	0	6.1719e-39	1	6.93416e-39	58	97					A	57367677	C	A	57367677	3	1	435	1	0	0	0	0	1	0	0	0	14116	681	24	5	383	5	SERPING1	11	57367677	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	98911	57367677	77638839	5155	26080											
ZDHHC5	25921	broad.mit.edu	37	chr11	57466485	57466485	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gccaactggcccaacacaccGagagccctcaccagtccgtt	10	5	8	18	2	1	1	1	0	0	1	2	2	2	1	6	1	3	1	6	1	2	1	rs145781238		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:57466485G>A	ENST00000287169.3	+	11	2939	c.1577G>A	c.(1576-1578)cGa>cAa	p.R526Q	ZDHHC5_ENST00000527985.1_Missense_Mutation_p.R473Q	NM_015457.2	NP_056272.2	Q9C0B5	ZDHC5_HUMAN	zinc finger, DHHC-type containing 5	526					protein palmitoylation (GO:0018345)	dendrite (GO:0030425)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			endometrium(6)|kidney(3)|large_intestine(3)|lung(5)|skin(1)	18						CCAACACACCGAGAGCCCTCA	0.617																																						ENST00000287169.3																			0				endometrium(6)|kidney(3)|large_intestine(3)|lung(5)|skin(1)	18						c.(1576-1578)cGa>cAa		zinc finger, DHHC-type containing 5							65	64	64					11																	57466485		2201	4296	6497	SO:0001583	missense	25921					integral to membrane	acyltransferase activity|zinc ion binding	g.chr11:57466485G>A	AB051535	CCDS7965.1	11q13.1	2008-05-02			ENSG00000156599	ENSG00000156599		"Zinc fingers, DHHC-type"	18472	protein-coding gene	gene with protein product		614586				11214970	Standard	NM_015457		Approved	KIAA1748, ZNF375	uc001nkx.1	Q9C0B5	OTTHUMG00000167198	ENST00000287169.3:c.1577G>A	11.37:g.57466485G>A	ENSP00000287169:p.Arg526Gln					ZDHHC5_ENST00000527985.1_Missense_Mutation_p.R473Q	p.R526Q	NM_015457.2	NP_056272.2	Q9C0B5	ZDHC5_HUMAN			11	2939	+			526					Q2TGF0|Q6ZMF0|Q8TAK8|Q9H923|Q9UFI7	Missense_Mutation	SNP	ENST00000287169.3	37	c.1577G>A	CCDS7965.1	.	.	.	.	.	.	.	.	.	.	G	13.17	2.158661	0.38119	.	.	ENSG00000156599	ENST00000527985;ENST00000287169	T;T	0.63096	-0.02;0.98	5.17	4.26	0.50523	.	0.693728	0.14446	N	0.319073	T	0.67552	0.2905	L	0.49778	1.585	0.36469	D	0.867122	D	0.65815	0.995	P	0.54060	0.741	T	0.72097	-0.4393	10	0.46703	T	0.11	-2.3426	13.343	0.60555	0.0765:0.0:0.9235:0.0	.	526	Q9C0B5	ZDHC5_HUMAN	Q	473;526	ENSP00000432202:R473Q;ENSP00000287169:R526Q	ENSP00000287169:R526Q	R	+	2	0	ZDHHC5	57223061	1.000000	0.71417	0.999000	0.59377	0.753000	0.42808	4.915000	0.63355	1.410000	0.46936	0.563000	0.77884	CGA		0.617	ZDHHC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393694.1	NM_015457		19	33	0	0	0	1	0	19	33					A	57466485	G	A	57466485	3	1	435	1	0	0	0	0	1	0	0	0	17615	1058	37	2	1615	2	ZDHHC5	11	57466485	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	98808	57466485	77540031	5156	26081											
TMX2	51075	broad.mit.edu	37	chr11	57505473	57505473	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cgcttggatattcgcatgggCctactttacatcacactctg	8	13	8	12	2	2	0	1	0	1	0	3	1	2	1	1	2	2	2	1	2	3	6			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:57505473C>T	ENST00000278422.4	+	3	351	c.339C>T	c.(337-339)ggC>ggT	p.G113G	TMX2_ENST00000378312.4_Intron|TMX2-CTNND1_ENST00000528395.1_Intron	NM_015959.3	NP_057043.1	Q9Y320	TMX2_HUMAN	thioredoxin-related transmembrane protein 2	113					cell redox homeostasis (GO:0045454)	integral component of membrane (GO:0016021)				NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|urinary_tract(2)	12						TTCGCATGGGCCTACTTTACA	0.393																																						ENST00000278422.4																			0				NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|urinary_tract(2)	12						c.(337-339)ggC>ggT		thioredoxin-related transmembrane protein 2							155	141	146					11																	57505473		2201	4296	6497	SO:0001819	synonymous_variant	51075				cell redox homeostasis	integral to membrane		g.chr11:57505473C>T	AF132965	CCDS7967.1, CCDS44601.1	11q12.1	2012-09-20	2009-02-23	2009-02-23	ENSG00000213593	ENSG00000213593		"Protein disulfide isomerases"	30739	protein-coding gene	gene with protein product	"protein disulfide isomerase family A, member 12"		"thioredoxin domain containing 14"	TXNDC14		12670024	Standard	NM_015959		Approved	PDIA12	uc001nlc.2	Q9Y320	OTTHUMG00000167200	ENST00000278422.4:c.339C>T	11.37:g.57505473C>T						TMX2_ENST00000378312.4_Intron|TMX2-CTNND1_ENST00000528395.1_Intron	p.G113G	NM_015959.3	NP_057043.1	Q9Y320	TMX2_HUMAN			3	351	+			113					B7Z4R4|Q53G73|Q561W0|Q5J7Q7|Q8NBP9|Q9H3L1	Silent	SNP	ENST00000278422.4	37	c.339C>T	CCDS7967.1																																																																																				0.393	TMX2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393708.1	NM_015959		48	52	0	0	0	1	0	48	52					T	57505473	C	T	57505473	2	4	435	1	0	0	0	0	0	0	0	1	16264	726	26	3		3	TMX2	11	57505473	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	38988	57505473	77501043	5157	26082											
OR6Q1	219952	broad.mit.edu	37	chr11	57798998	57798998	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcacccttgctagccttgTcgtgctcagatgtcacttgg	5	13	9	14	1	3	1	3	0	0	1	4	1	3	1	3	1	3	2	3	1	1	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:57798998T>C	ENST00000302622.3	+	1	597	c.574T>C	c.(574-576)Tcg>Ccg	p.S192P	OR9Q1_ENST00000335397.3_Intron	NM_001005186.2	NP_001005186.2	Q8NGQ2	OR6Q1_HUMAN	olfactory receptor, family 6, subfamily Q, member 1	192						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			biliary_tract(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Breast(21;0.0707)|all_epithelial(135;0.142)				GCTAGCCTTGTCGTGCTCAGA	0.493																																						ENST00000302622.3																			0				biliary_tract(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(574-576)Tcg>Ccg		olfactory receptor, family 6, subfamily Q, member 1							256	225	235					11																	57798998		2201	4296	6497	SO:0001583	missense	219952				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:57798998T>C	AB065737	CCDS31541.1	11q12.1	2012-08-09			ENSG00000172381	ENSG00000172381		"GPCR / Class A : Olfactory receptors"	15302	protein-coding gene	gene with protein product							Standard	NM_001005186		Approved		uc010rjz.2	Q8NGQ2	OTTHUMG00000168831	ENST00000302622.3:c.574T>C	11.37:g.57798998T>C	ENSP00000307734:p.Ser192Pro					OR9Q1_ENST00000335397.3_Intron	p.S192P	NM_001005186.2	NP_001005186.2	Q8NGQ2	OR6Q1_HUMAN			1	597	+		Breast(21;0.0707)|all_epithelial(135;0.142)	192					B9EKW1|Q6IFH1|Q96R34	Missense_Mutation	SNP	ENST00000302622.3	37	c.574T>C	CCDS31541.1	.	.	.	.	.	.	.	.	.	.	T	16.37	3.105583	0.56291	.	.	ENSG00000172381	ENST00000302622	T	0.00301	8.21	5.0	0.96	0.19631	GPCR, rhodopsin-like superfamily (1);	0.211899	0.23879	N	0.043680	T	0.00998	0.0033	H	0.96889	3.9	0.20873	N	0.999838	D	0.71674	0.998	D	0.76575	0.988	T	0.15065	-1.0450	10	0.87932	D	0	.	11.5935	0.50959	0.0:0.0:0.4335:0.5665	.	192	Q8NGQ2	OR6Q1_HUMAN	P	192	ENSP00000307734:S192P	ENSP00000307734:S192P	S	+	1	0	OR6Q1	57555574	0.000000	0.05858	0.961000	0.40146	0.914000	0.54420	-0.210000	0.09345	0.229000	0.21039	0.519000	0.50382	TCG		0.493	OR6Q1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401257.1	NM_001005186		8	80	0	0	0	1	0	8	80					C	57798998	T	C	57798998	3	2	435	1	0	0	0	0	1	0	0	0	11208	1667	58	4	576	4	OR6Q1	11	57798998	Missense_Mutation	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	293525	57798998	77207518	5158	26083											
OR5B12	390191	broad.mit.edu	37	chr11	58206930	58206930	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagtagaaaaggccttctggCgtccttcaggtgagcgcatc	10	9	12	10	2	2	2	1	1	1	1	4	2	3	2	2	3	1	2	2	3	4	3	rs199822729		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:58206930C>T	ENST00000302572.2	-	1	716	c.695G>A	c.(694-696)cGc>cAc	p.R232H		NM_001004733.2	NP_001004733.1	Q96R08	OR5BC_HUMAN	olfactory receptor, family 5, subfamily B, member 12	232						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			large_intestine(6)|liver(1)|lung(28)|ovary(1)|prostate(3)|skin(1)	40	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				GGCCTTCTGGCGTCCTTCAGG	0.418																																						ENST00000302572.2																			0				large_intestine(6)|liver(1)|lung(28)|ovary(1)|prostate(3)|skin(1)	40						c.(694-696)cGc>cAc		olfactory receptor, family 5, subfamily B, member 12							73	71	72					11																	58206930		2201	4295	6496	SO:0001583	missense	390191				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:58206930C>T	AB065851	CCDS31551.1	11q12.1	2012-08-09		2004-03-10	ENSG00000172362	ENSG00000172362		"GPCR / Class A : Olfactory receptors"	15432	protein-coding gene	gene with protein product				OR5B12P, OR5B16		12213199	Standard	NM_001004733		Approved	OST743	uc010rkh.2	Q96R08	OTTHUMG00000167543	ENST00000302572.2:c.695G>A	11.37:g.58206930C>T	ENSP00000306657:p.Arg232His						p.R232H	NM_001004733.2	NP_001004733.1	Q96R08	OR5BC_HUMAN			1	716	-	Esophageal squamous(5;0.0027)	Breast(21;0.0778)	232					B2RNL2|Q6IEV5	Missense_Mutation	SNP	ENST00000302572.2	37	c.695G>A	CCDS31551.1	.	.	.	.	.	.	.	.	.	.	C	1.092	-0.663754	0.03428	.	.	ENSG00000172362	ENST00000302572	T	0.00333	8.07	4.3	2.35	0.29111	GPCR, rhodopsin-like superfamily (1);	0.402896	0.21419	N	0.074846	T	0.00300	0.0009	M	0.64170	1.965	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.39333	-0.9619	10	0.46703	T	0.11	-17.1327	11.5066	0.50471	0.0:0.795:0.1273:0.0777	.	232	Q96R08	OR5BC_HUMAN	H	232	ENSP00000306657:R232H	ENSP00000306657:R232H	R	-	2	0	OR5B12	57963506	0.000000	0.05858	0.867000	0.34043	0.074000	0.17049	-2.572000	0.00912	0.173000	0.19788	-1.598000	0.00824	CGC		0.418	OR5B12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394987.1	NM_001004733		23	23	0	0	0	1	0	23	23					T	58206930	C	T	58206930	3	4	435	1	0	0	0	0	1	0	0	0	11148	768	27	1	253	1	OR5B12	11	58206930	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	407932	58206930	76799586	5159	26084											
GLYATL2	219970	broad.mit.edu	37	chr11	58602079	58602079	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taaccaatttgcaacatgttGccttggtgtctgtatttggg	8	16	10	7	0	1	0	0	0	1	0	1	0	1	0	2	2	4	3	2	2	4	6			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:58602079G>A	ENST00000287275.1	-	6	1098	c.708C>T	c.(706-708)ggC>ggT	p.G236G	GLYATL2_ENST00000533636.1_5'Flank|GLYATL2_ENST00000532258.1_Silent_p.G236G	NM_145016.3	NP_659453.3	Q8WU03	GLYL2_HUMAN	glycine-N-acyltransferase-like 2	236						endoplasmic reticulum (GO:0005783)|mitochondrion (GO:0005739)	glycine N-acyltransferase activity (GO:0047961)			breast(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	23		Breast(21;0.0044)|all_epithelial(135;0.0216)			Glycine(DB00145)	GCAACATGTTGCCTTGGTGTC	0.423																																						ENST00000287275.1																			0				breast(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	23						c.(706-708)ggC>ggT		glycine-N-acyltransferase-like 2	Glycine(DB00145)						105	105	105					11																	58602079		2043	4193	6236	SO:0001819	synonymous_variant	219970					mitochondrion	glycine N-acyltransferase activity	g.chr11:58602079G>A	AF426250	CCDS41649.1	11q12.1	2008-02-05				ENSG00000156689			24178	protein-coding gene	gene with protein product		614762				12477932	Standard	NM_145016		Approved	BXMAS2-10, MGC24009	uc001nnd.4	Q8WU03		ENST00000287275.1:c.708C>T	11.37:g.58602079G>A						GLYATL2_ENST00000532258.1_Silent_p.G236G	p.G236G	NM_145016.3	NP_659453.3	Q8WU03	GLYL2_HUMAN			6	1098	-		Breast(21;0.0044)|all_epithelial(135;0.0216)	236					A5LGC7|Q86WC3|Q96AT2	Silent	SNP	ENST00000287275.1	37	c.708C>T	CCDS41649.1																																																																																				0.423	GLYATL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394599.1	NM_145016		11	36	0	0	0	1	0	11	36					A	58602079	G	A	58602079	2	1	435	1	0	0	0	0	0	0	0	1	6481	1306	46	3		3	GLYATL2	11	58602079	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	395149	58602079	76404437	5160	26085											
OR5A1	219982	broad.mit.edu	37	chr11	59211466	59211466	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tacttgctaggcagggacaaGgtggtgtctgttttctattc	7	15	12	7	0	2	0	0	0	2	0	3	1	2	1	0	4	2	3	0	4	4	7			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:59211466G>T	ENST00000302030.2	+	1	850	c.825G>T	c.(823-825)aaG>aaT	p.K275N		NM_001004728.1	NP_001004728.1	Q8NGJ0	OR5A1_HUMAN	olfactory receptor, family 5, subfamily A, member 1	275						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	28						GCAGGGACAAGGTGGTGTCTG	0.512																																						ENST00000302030.2																			0				central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	28						c.(823-825)aaG>aaT		olfactory receptor, family 5, subfamily A, member 1							223	189	201					11																	59211466		2201	4295	6496	SO:0001583	missense	219982				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:59211466G>T	AB065804	CCDS31561.1	11q12.1	2012-08-09			ENSG00000172320	ENSG00000172320		"GPCR / Class A : Olfactory receptors"	8319	protein-coding gene	gene with protein product				OR5A1P			Standard	NM_001004728		Approved	OST181	uc001nnx.1	Q8NGJ0	OTTHUMG00000167339	ENST00000302030.2:c.825G>T	11.37:g.59211466G>T	ENSP00000303096:p.Lys275Asn						p.K275N	NM_001004728.1	NP_001004728.1	Q8NGJ0	OR5A1_HUMAN			1	850	+			275					B9EH58|Q6IFF2|Q96RB1	Missense_Mutation	SNP	ENST00000302030.2	37	c.825G>T	CCDS31561.1	.	.	.	.	.	.	.	.	.	.	G	12.01	1.808777	0.31961	.	.	ENSG00000172320	ENST00000302030	T	0.00207	8.55	5.98	2.7	0.31948	GPCR, rhodopsin-like superfamily (1);	0.109676	0.40385	N	0.001108	T	0.00580	0.0019	M	0.87097	2.86	0.34419	D	0.697271	D	0.76494	0.999	D	0.76575	0.988	T	0.57888	-0.7733	10	0.87932	D	0	-20.5501	11.6811	0.51458	0.2302:0.0:0.7698:0.0	.	275	Q8NGJ0	OR5A1_HUMAN	N	275	ENSP00000303096:K275N	ENSP00000303096:K275N	K	+	3	2	OR5A1	58968042	0.015000	0.18098	1.000000	0.80357	0.073000	0.16967	-0.032000	0.12266	0.868000	0.35678	-0.143000	0.13931	AAG		0.512	OR5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394233.1	NM_001004728		60	74	1	0	2.22609e-26	1	2.48765e-26	60	74					T	59211466	G	T	59211466	3	4	435	1	0	0	0	0	1	0	0	0	11139	991	35	5	827	5	OR5A1	11	59211466	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	609387	59211466	75795050	5161	26086											
OR4D10	390197	broad.mit.edu	37	chr11	59245449	59245449	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttctactgtgatgtccacCgggtcctcaaactggcccat	7	12	8	14	1	2	1	1	1	1	0	4	1	4	1	4	2	2	0	4	2	2	2	rs370794946		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:59245449C>T	ENST00000530162.1	+	1	604	c.547C>T	c.(547-549)Cgg>Tgg	p.R183W		NM_001004705.1	NP_001004705.1	Q8NGI6	OR4DA_HUMAN	olfactory receptor, family 4, subfamily D, member 10	183						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R181W(1)		NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						TGATGTCCACCGGGTCCTCAA	0.493																																						ENST00000530162.1																			1	Substitution - Missense(1)	p.R181W(1)	prostate(1)	NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						c.(547-549)Cgg>Tgg		olfactory receptor, family 4, subfamily D, member 10							101	102	101					11																	59245449		2201	4295	6496	SO:0001583	missense	390197				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:59245449C>T	AB065808	CCDS53636.1	11q12.1	2012-10-03		2004-03-10	ENSG00000254466	ENSG00000254466		"GPCR / Class A : Olfactory receptors"	15173	protein-coding gene	gene with protein product				OR4D10P			Standard	NM_001004705		Approved	OST711	uc001nnz.1	Q8NGI6	OTTHUMG00000167341	ENST00000530162.1:c.547C>T	11.37:g.59245449C>T	ENSP00000436424:p.Arg183Trp						p.R183W	NM_001004705.1	NP_001004705.1	Q8NGI6	OR4DA_HUMAN			1	604	+			183					B2RNH6	Missense_Mutation	SNP	ENST00000530162.1	37	c.547C>T	CCDS53636.1	.	.	.	.	.	.	.	.	.	.	C	9.010	0.982239	0.18889	.	.	ENSG00000254466	ENST00000530162	T	0.00137	8.68	4.71	3.8	0.43715	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00144	0.0004	L	0.34521	1.04	0.09310	N	1	B	0.30889	0.299	B	0.28385	0.089	T	0.37502	-0.9703	9	0.87932	D	0	.	11.7531	0.51859	0.0:0.9122:0.0:0.0878	.	183	Q8NGI6	OR4DA_HUMAN	W	183	ENSP00000436424:R183W	ENSP00000436424:R183W	R	+	1	2	OR4D10	59002025	0.005000	0.15991	0.988000	0.46212	0.286000	0.27126	1.929000	0.40114	1.099000	0.41499	0.655000	0.94253	CGG		0.493	OR4D10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394235.1	NM_001004705		14	82	0	0	0	1	0	14	82					T	59245449	C	T	59245449	3	4	435	1	0	0	0	0	1	0	0	0	11054	643	23	2	549	2	OR4D10	11	59245449	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	33983	59245449	75761067	5162	26087											
OR4D11	219986	broad.mit.edu	37	chr11	59271436	59271436	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acatggccatctccaagcccCtgcactatgtgaccatcatg	10	9	7	15	0	2	1	1	1	1	0	3	1	2	1	5	1	2	1	5	1	2	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:59271436C>A	ENST00000313253.1	+	1	388	c.388C>A	c.(388-390)Ctg>Atg	p.L130M		NM_001004706.1	NP_001004706.1	Q8NGI4	OR4DB_HUMAN	olfactory receptor, family 4, subfamily D, member 11	130						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29						CTCCAAGCCCCTGCACTATGT	0.522																																						ENST00000313253.1																			0				endometrium(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29						c.(388-390)Ctg>Atg		olfactory receptor, family 4, subfamily D, member 11							184	167	173					11																	59271436		2201	4295	6496	SO:0001583	missense	219986				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:59271436C>A	AB065810	CCDS31563.1	11q12.1	2012-08-09		2004-03-10	ENSG00000176200	ENSG00000176200		"GPCR / Class A : Olfactory receptors"	15174	protein-coding gene	gene with protein product				OR4D11P			Standard	NM_001004706		Approved		uc001noa.1	Q8NGI4	OTTHUMG00000167342	ENST00000313253.1:c.388C>A	11.37:g.59271436C>A	ENSP00000320077:p.Leu130Met						p.L130M	NM_001004706.1	NP_001004706.1	Q8NGI4	OR4DB_HUMAN			1	388	+			130						Missense_Mutation	SNP	ENST00000313253.1	37	c.388C>A	CCDS31563.1	.	.	.	.	.	.	.	.	.	.	C	12.03	1.816181	0.32145	.	.	ENSG00000176200	ENST00000313253	T	0.01359	4.98	5.44	2.54	0.30619	GPCR, rhodopsin-like superfamily (1);	0.000000	0.41097	D	0.000954	T	0.11836	0.0288	H	0.94542	3.55	0.35859	D	0.827381	D	0.89917	1.0	D	0.75484	0.986	T	0.07578	-1.0765	10	0.87932	D	0	-20.061	12.4181	0.55504	0.0:0.7893:0.0:0.2107	.	130	Q8NGI4	OR4DB_HUMAN	M	130	ENSP00000320077:L130M	ENSP00000320077:L130M	L	+	1	2	OR4D11	59028012	0.922000	0.31269	0.995000	0.50966	0.292000	0.27327	1.999000	0.40806	0.030000	0.15379	-1.151000	0.01829	CTG		0.522	OR4D11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394236.1	NM_001004706		41	54	1	0	1.62957e-23	1	1.81649e-23	41	54					A	59271436	C	A	59271436	3	1	435	1	0	0	0	0	1	0	0	0	11055	680	24	5	390	5	OR4D11	11	59271436	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	25987	59271436	75735080	5163	26088											
GIF	2694	broad.mit.edu	37	chr11	59609965	59609965	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agggtcttggcaaagcggacGgctatcggcaaggtcgcctc	8	7	15	11	4	1	0	0	0	1	0	4	1	1	1	1	6	1	3	1	6	3	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:59609965G>A	ENST00000257248.2	-	4	509	c.462C>T	c.(460-462)gcC>gcT	p.A154A	GIF_ENST00000541311.1_Silent_p.A129A	NM_005142.2	NP_005133.2	P27352	IF_HUMAN	gastric intrinsic factor (vitamin B synthesis)	154					cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|cobalt ion transport (GO:0006824)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|endosome (GO:0005768)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|lysosomal lumen (GO:0043202)|microvillus (GO:0005902)	cobalamin binding (GO:0031419)			large_intestine(4)|liver(1)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	17					Cyanocobalamin(DB00115)	CAAAGCGGACGGCTATCGGCA	0.582																																					NSCLC(53;1139 1245 16872 38474 42853)	ENST00000541311.1																			0				large_intestine(4)|liver(1)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	17						c.(385-387)gcC>gcT		gastric intrinsic factor (vitamin B synthesis)							116	100	105					11																	59609965		2201	4295	6496	SO:0001819	synonymous_variant	2694				cobalamin metabolic process|cobalamin transport|cobalt ion transport	apical plasma membrane|endosome|extracellular space|microvillus	cobalamin binding	g.chr11:59609965G>A	X76562	CCDS7977.1	11q12.1	2013-09-20			ENSG00000134812	ENSG00000134812			4268	protein-coding gene	gene with protein product		609342				2071148	Standard	NM_005142		Approved	TCN3, IF, IFMH, INF	uc001noi.3	P27352	OTTHUMG00000167399	ENST00000257248.2:c.462C>T	11.37:g.59609965G>A						GIF_ENST00000257248.2_Silent_p.A154A	p.A129A			P27352	IF_HUMAN			4	621	-			154					B2RAN8|B4DVZ1	Silent	SNP	ENST00000257248.2	37	c.387C>T	CCDS7977.1																																																																																				0.582	GIF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394497.1	NM_005142		18	30	0	0	0	1	0	18	30					A	59609965	G	A	59609965	2	1	435	1	0	0	0	0	0	0	0	1	6376	1103	39	2		2	GIF	11	59609965	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	338529	59609965	75396551	5164	26089											
MS4A5	64232	broad.mit.edu	37	chr11	60215171	60215171	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cattattgaattattcatttCtctgcctttctcaattttgg	8	21	4	8	0	3	1	2	1	2	0	5	1	3	1	1	1	1	0	1	1	4	8			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:60215171C>A	ENST00000300190.2	+	5	628	c.542C>A	c.(541-543)tCt>tAt	p.S181Y		NM_023945.2	NP_076434.2	Q9H3V2	MS4A5_HUMAN	membrane-spanning 4-domains, subfamily A, member 5	181						integral component of membrane (GO:0016021)				large_intestine(7)|lung(7)|ovary(1)|skin(1)	16						TTATTCATTTCTCTGCCTTTC	0.333																																						ENST00000300190.2																			0				large_intestine(7)|lung(7)|ovary(1)|skin(1)	16						c.(541-543)tCt>tAt		membrane-spanning 4-domains, subfamily A, member 5							173	177	176					11																	60215171		2203	4300	6503	SO:0001583	missense	64232					integral to membrane	receptor activity	g.chr11:60215171C>A	AB013103	CCDS7987.1	11q12	2008-03-25			ENSG00000166930	ENSG00000166930			13374	protein-coding gene	gene with protein product		606499				11245982, 11401424	Standard	NM_023945		Approved	CD20L2	uc001npo.3	Q9H3V2	OTTHUMG00000167613	ENST00000300190.2:c.542C>A	11.37:g.60215171C>A	ENSP00000300190:p.Ser181Tyr						p.S181Y	NM_023945.2	NP_076434.2	Q9H3V2	MS4A5_HUMAN			5	628	+			181					Q9BZH1	Missense_Mutation	SNP	ENST00000300190.2	37	c.542C>A	CCDS7987.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.13|11.13	1.547454|1.547454	0.27652|0.27652	.|.	.|.	ENSG00000166930|ENSG00000166930	ENST00000528905|ENST00000300190	.|T	.|0.03496	.|3.91	4.22|4.22	4.22|4.22	0.49857|0.49857	.|.	.|0.625320	.|0.16394	.|N	.|0.216355	T|T	0.19005|0.19005	0.0456|0.0456	M|M	0.85859|0.85859	2.78|2.78	0.30328|0.30328	N|N	0.786882|0.786882	.|D	.|0.89917	.|1.0	.|D	.|0.69824	.|0.966	T|T	0.01679|0.01679	-1.1297|-1.1297	5|10	.|0.87932	.|D	.|0	-8.5162|-8.5162	12.2923|12.2923	0.54825|0.54825	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|181	.|Q9H3V2	.|MS4A5_HUMAN	L|Y	103|181	.|ENSP00000300190:S181Y	.|ENSP00000300190:S181Y	F|S	+|+	3|2	2|0	MS4A5|MS4A5	59971747|59971747	0.674000|0.674000	0.27549|0.27549	0.084000|0.084000	0.20598|0.20598	0.069000|0.069000	0.16628|0.16628	3.144000|3.144000	0.50616|0.50616	2.335000|2.335000	0.79485|0.79485	0.467000|0.467000	0.42956|0.42956	TTC|TCT		0.333	MS4A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395392.1			39	63	1	0	1.96642e-18	1	2.17001e-18	39	63					A	60215171	C	A	60215171	3	1	435	1	0	0	0	0	1	0	0	0	9863	913	32	5	560	5	MS4A5	11	60215171	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	605206	60215171	74791345	5165	26090											
MS4A8B	83661	broad.mit.edu	37	chr11	60482851	60482851	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagaaccggtgacctcaccAccaagttattccagtgagat	12	8	8	13	1	1	3	1	2	0	2	2	4	2	3	6	1	1	1	6	1	3	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:60482851A>G	ENST00000300226.2	+	7	920	c.717A>G	c.(715-717)ccA>ccG	p.P239P		NM_031457.1	NP_113645.1	Q9BY19	M4A8_HUMAN	membrane-spanning 4-domains, subfamily A, member 8	239						integral component of membrane (GO:0016021)											TGACCTCACCACCAAGTTATT	0.488																																						ENST00000300226.2																			0											c.(715-717)ccA>ccG		membrane-spanning 4-domains, subfamily A, member 8							122	111	115					11																	60482851		2203	4300	6503	SO:0001819	synonymous_variant	83661							g.chr11:60482851A>G	AF237905	CCDS7990.1	11q12	2013-03-01	2013-03-01	2013-03-01	ENSG00000166959	ENSG00000166959			13380	protein-coding gene	gene with protein product		606549	"membrane-spanning 4-domains, subfamily A, member 8B"	MS4A8B		11245982, 11401424	Standard	NM_031457		Approved	MS4A4, CD20L5	uc001npv.3	Q9BY19	OTTHUMG00000167686	ENST00000300226.2:c.717A>G	11.37:g.60482851A>G							p.P239P	NM_031457.1	NP_113645.1					7	920	+								Q8TCA5	Silent	SNP	ENST00000300226.2	37	c.717A>G	CCDS7990.1	.	.	.	.	.	.	.	.	.	.	A	7.486	0.649624	0.14516	.	.	ENSG00000166959	ENST00000529752	T	0.16457	2.34	4.22	-2.75	0.05914	.	.	.	.	.	T	0.15696	0.0378	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.36720	-0.9736	6	0.87932	D	0	0.1539	4.5689	0.12200	0.3599:0.0:0.4614:0.1787	.	.	.	.	A	222	ENSP00000436857:T222A	ENSP00000436857:T222A	T	+	1	0	MS4A8B	60239427	0.000000	0.05858	0.000000	0.03702	0.025000	0.11179	-0.664000	0.05292	-0.255000	0.09486	0.459000	0.35465	ACC		0.488	MS4A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395605.1			12	15	0	0	0	1	0	12	15					G	60482851	A	G	60482851	2	3	435	1	0	0	0	0	0	0	0	1	9867	146	6	4		4	MS4A8B	11	60482851	Silent	SNP	A	TCGA-XK-AAIW-01A-11D-A41K-08	267680	60482851	74523665	5166	26091											
ZP1	22917	broad.mit.edu	37	chr11	60643128	60643128	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctgggaaagcaacagacagtGaatgggcccaataaacaatc	17	5	10	9	0	0	2	0	1	0	1	1	3	0	3	1	2	3	1	1	2	7	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:60643128G>A	ENST00000278853.5	+	12	1916	c.1916G>A	c.(1915-1917)tGa>tAa	p.*639*		NM_207341.2	NP_997224.2	P60852	ZP1_HUMAN	zona pellucida glycoprotein 1 (sperm receptor)	0					binding of sperm to zona pellucida (GO:0007339)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)	extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)|secretory granule (GO:0030141)				breast(3)|endometrium(2)|large_intestine(8)|lung(8)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	26						AACAGACAGTGAATGGGCCCA	0.478																																						ENST00000278853.5																			0				breast(3)|endometrium(2)|large_intestine(8)|lung(8)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	26						c.(1915-1917)tGa>tAa		zona pellucida glycoprotein 1 (sperm receptor)							63	57	59					11																	60643128		2203	4299	6502	SO:0001819	synonymous_variant	22917				single fertilization	integral to membrane|plasma membrane|proteinaceous extracellular matrix		g.chr11:60643128G>A	BC067899	CCDS31572.1	11q12.2	2013-01-17			ENSG00000149506	ENSG00000149506		"Zona pellucida glycoproteins"	13187	protein-coding gene	gene with protein product		195000				10542331	Standard	NM_207341		Approved		uc001nqd.3	P60852	OTTHUMG00000167797	ENST00000278853.5:c.1916G>A	11.37:g.60643128G>A							p.*639*	NM_207341.2	NP_997224.2	P60852	ZP1_HUMAN			12	1916	+			0						Silent	SNP	ENST00000278853.5	37	c.1916G>A	CCDS31572.1																																																																																				0.478	ZP1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396329.1	NM_207341		6	11	0	0	0	1	0	6	11					A	60643128	G	A	60643128	2	1	435	1	0	0	0	0	0	0	0	1	18212	1285	45	3		3	ZP1	11	60643128	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	160277	60643128	74363388	5167	26092											
DDB1	1642	broad.mit.edu	37	chr11	61079290	61079290	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tgggcctcaaggctgtcgtgCccccactcgtgtcttggact	4	11	12	14	2	2	0	1	0	1	0	4	1	2	1	3	3	1	1	3	3	1	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:61079290C>T	ENST00000301764.7	-	18	2640	c.2243G>A	c.(2242-2244)gGc>gAc	p.G748D	DDB1_ENST00000545930.1_5'Flank|DDB1_ENST00000450997.2_Intron	NM_001923.4	NP_001914.3	Q16531	DDB1_HUMAN	damage-specific DNA binding protein 1, 127kDa	748	Interaction with CDT1.|WD repeat beta-propeller C.				DNA repair (GO:0006281)|histone H2A monoubiquitination (GO:0035518)|negative regulation of apoptotic process (GO:0043066)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of mitotic cell cycle phase transition (GO:1901990)|UV-damage excision repair (GO:0070914)|viral process (GO:0016032)|Wnt signaling pathway (GO:0016055)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|Cul4A-RING E3 ubiquitin ligase complex (GO:0031464)|Cul4B-RING E3 ubiquitin ligase complex (GO:0031465)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	48						GGCTGTCGTGCCCCCACTCGT	0.562								Nucleotide excision repair (NER)																														ENST00000301764.7																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	48						c.(2242-2244)gGc>gAc	Nucleotide excision repair (NER)	damage-specific DNA binding protein 1, 127kDa							101	89	93					11																	61079290		2203	4299	6502	SO:0001583	missense	1642				cell cycle checkpoint|interspecies interaction between organisms|nucleotide-excision repair, DNA damage removal|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	Cul4A-RING ubiquitin ligase complex|Cul4B-RING ubiquitin ligase complex|cytoplasm|nucleoplasm	damaged DNA binding|protein binding	g.chr11:61079290C>T	AJ002955	CCDS31576.1	11q12-q13	2014-09-17	2002-08-29		ENSG00000167986	ENSG00000167986			2717	protein-coding gene	gene with protein product		600045	"damage-specific DNA binding protein 1 (127kD)"			8530102, 10574459	Standard	NM_001923		Approved	XPE	uc001nrc.5	Q16531	OTTHUMG00000168209	ENST00000301764.7:c.2243G>A	11.37:g.61079290C>T	ENSP00000301764:p.Gly748Asp					DDB1_ENST00000450997.2_Intron	p.G748D	NM_001923.4	NP_001914.3	Q16531	DDB1_HUMAN			18	2640	-			748			Interaction with CDT1.		A6NG77|B2R648|B4DG00|O15176|Q13289|Q58F96	Missense_Mutation	SNP	ENST00000301764.7	37	c.2243G>A	CCDS31576.1	.	.	.	.	.	.	.	.	.	.	C	13.07	2.127701	0.37533	.	.	ENSG00000167986	ENST00000301764;ENST00000535147	T;T	0.28454	1.61;1.61	5.66	5.66	0.87406	.	0.158612	0.56097	D	0.000021	T	0.20820	0.0501	N	0.14661	0.345	0.80722	D	1	B	0.06786	0.001	B	0.04013	0.001	T	0.09443	-1.0674	10	0.12103	T	0.63	-24.1134	19.7449	0.96248	0.0:1.0:0.0:0.0	.	748	Q16531	DDB1_HUMAN	D	748;215	ENSP00000301764:G748D;ENSP00000444650:G215D	ENSP00000301764:G748D	G	-	2	0	DDB1	60835866	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	6.146000	0.71777	2.677000	0.91161	0.591000	0.81541	GGC		0.562	DDB1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398816.1	NM_001923		10	21	0	0	0	1	0	10	21					T	61079290	C	T	61079290	3	4	435	1	0	0	0	0	1	0	0	0	4323	739	26	3	1219	3	DDB1	11	61079290	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	436162	61079290	73927226	5168	26093											
TMEM138	51524	broad.mit.edu	37	chr11	61131887	61131887	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tccagaccagtaactacagcCtggtgctctctctgcagttc	8	11	8	14	0	2	1	0	0	2	1	5	1	3	1	3	1	5	4	3	1	2	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:61131887C>A	ENST00000278826.6	+	2	584	c.25C>A	c.(25-27)Ctg>Atg	p.L9M	CYB561A3_ENST00000294072.4_5'Flank|CYB561A3_ENST00000546151.1_5'Flank|TMEM138_ENST00000540194.1_3'UTR|TMEM138_ENST00000381787.2_5'Flank|CYB561A3_ENST00000540317.1_5'Flank|TMEM138_ENST00000542946.1_Missense_Mutation_p.L9M|CYB561A3_ENST00000447532.2_5'Flank|CYB561A3_ENST00000426130.2_5'Flank|CYB561A3_ENST00000544118.1_5'Flank	NM_016464.4	NP_057548.1	Q9NPI0	TM138_HUMAN	transmembrane protein 138	9					cilium assembly (GO:0042384)	cilium (GO:0005929)|integral component of membrane (GO:0016021)|vacuole (GO:0005773)				central_nervous_system(1)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	5						TAACTACAGCCTGGTGCTCTC	0.532																																						ENST00000542946.1																			0				central_nervous_system(1)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	5						c.(25-27)Ctg>Atg		transmembrane protein 138							179	150	160					11																	61131887		2203	4299	6502	SO:0001583	missense	51524					integral to membrane		g.chr11:61131887C>A	AF151030	CCDS8005.1	11q12.2	2014-01-28			ENSG00000149483	ENSG00000149483			26944	protein-coding gene	gene with protein product		614459					Standard	NM_016464		Approved	HSPC196, JBTS16	uc001nrl.2	Q9NPI0	OTTHUMG00000168145	ENST00000278826.6:c.25C>A	11.37:g.61131887C>A	ENSP00000278826:p.Leu9Met					TMEM138_ENST00000540194.1_3'UTR|TMEM138_ENST00000278826.6_Missense_Mutation_p.L9M	p.L9M			Q9NPI0	TM138_HUMAN			2	224	+			9					A6NGA7|B4E044|Q5JPE1	Missense_Mutation	SNP	ENST00000278826.6	37	c.25C>A	CCDS8005.1	.	.	.	.	.	.	.	.	.	.	C	17.48	3.400698	0.62177	.	.	ENSG00000149483	ENST00000278826;ENST00000542946	D;T	0.89415	-2.51;-1.19	5.18	3.32	0.38043	.	0.000000	0.64402	D	0.000018	D	0.92341	0.7570	M	0.65975	2.015	0.80722	D	1	D;D;D	0.89917	1.0;0.999;0.999	D;D;D	0.76575	0.988;0.976;0.956	D	0.90101	0.4184	10	0.36615	T	0.2	-16.7098	11.1924	0.48693	0.0:0.85:0.0:0.15	.	9;9;9	B4E044;Q9NPI0-2;Q9NPI0	.;.;TM138_HUMAN	M	9	ENSP00000278826:L9M;ENSP00000445792:L9M	ENSP00000278826:L9M	L	+	1	2	TMEM138	60888463	1.000000	0.71417	1.000000	0.80357	0.896000	0.52359	2.454000	0.44979	0.581000	0.29539	0.563000	0.77884	CTG		0.532	TMEM138-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398399.2	NM_016464		8	52	1	0	0.27861	1	0.27891	8	52					A	61131887	C	A	61131887	3	1	435	1	0	0	0	0	1	0	0	0	16050	680	24	5	27	5	TMEM138	11	61131887	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	52597	61131887	73874629	5169	26094											
DAGLA	747	broad.mit.edu	37	chr11	61496403	61496403	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ttcacctgccggtcttacagGcaaacaatgacatcttggcc	10	10	8	13	1	3	1	1	1	2	0	3	1	3	1	3	3	3	1	3	3	3	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:61496403G>A	ENST00000257215.5	+	8	888	c.772G>A	c.(772-774)Gca>Aca	p.A258T		NM_006133.2	NP_006124.1	Q9Y4D2	DGLA_HUMAN	diacylglycerol lipase, alpha	258					arachidonic acid metabolic process (GO:0019369)|blood coagulation (GO:0007596)|cell death (GO:0008219)|diacylglycerol catabolic process (GO:0046340)|endocannabinoid signaling pathway (GO:0071926)|neuroblast proliferation (GO:0007405)|neurotransmitter biosynthetic process (GO:0042136)|platelet activation (GO:0030168)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(2)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	43				READ - Rectum adenocarcinoma(4;0.219)		GGTCTTACAGGCAAACAATGA	0.577																																						ENST00000257215.5																			0				breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(2)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	43						c.e8-1		diacylglycerol lipase, alpha							208	157	175					11																	61496403		2202	4299	6501	SO:0001630	splice_region_variant	747				cell death|lipid catabolic process|platelet activation	integral to membrane|plasma membrane	acylglycerol lipase activity|metal ion binding|triglyceride lipase activity	g.chr11:61496403G>A	AB014559	CCDS31578.1	11q12.3	2008-03-18	2007-02-28	2007-02-28		ENSG00000134780	3.1.1.-		1165	protein-coding gene	gene with protein product	"neural stem cell-derived dendrite regulator"	614015	"chromosome 11 open reading frame 11"	C11orf11		9734811	Standard	NM_006133		Approved	KIAA0659, NSDDR, DAGLALPHA	uc001nsa.3	Q9Y4D2		ENST00000257215.5:c.772-1G>A	11.37:g.61496403G>A							p.A258_splice	NM_006133.2	NP_006124.1	Q9Y4D2	DGLA_HUMAN		READ - Rectum adenocarcinoma(4;0.219)	8	888	+			258					A7E233|Q6WQJ0	Splice_Site	SNP	ENST00000257215.5	37	c.771_splice	CCDS31578.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.359526	0.82353	.	.	ENSG00000134780	ENST00000257215	T	0.24151	1.87	4.65	4.65	0.58169	.	0.000000	0.85682	D	0.000000	T	0.36936	0.0985	N	0.22421	0.69	0.80722	D	1	D	0.63880	0.993	D	0.74674	0.984	T	0.13282	-1.0515	9	.	.	.	-20.1372	17.9315	0.88998	0.0:0.0:1.0:0.0	.	258	Q9Y4D2	DGLA_HUMAN	T	258	ENSP00000257215:A258T	.	A	+	1	0	DAGLA	61252979	1.000000	0.71417	0.994000	0.49952	0.959000	0.62525	7.549000	0.82163	2.281000	0.76405	0.555000	0.69702	GCA		0.577	DAGLA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398516.1	NM_006133	Missense_Mutation	12	22	0	0	0	1	0	12	22					A	61496403	G	A	61496403	5	1	435	1	0	0	0	0	0	0	1	0	4226	1217	42	3	798	3	DAGLA	11	61496403	Splice_Site	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	364516	61496403	73510113	5170	26095											
DAGLA	747	broad.mit.edu	37	chr11	61511050	61511050	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggagggcttctcggaggggCggctgctgtcgccagtggtt	3	10	19	9	3	1	0	0	0	1	0	3	2	1	2	1	7	1	4	1	7	0	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:61511050C>T	ENST00000257215.5	+	20	2334	c.2218C>T	c.(2218-2220)Cgg>Tgg	p.R740W	RP11-467L20.10_ENST00000536405.1_lincRNA	NM_006133.2	NP_006124.1	Q9Y4D2	DGLA_HUMAN	diacylglycerol lipase, alpha	740					arachidonic acid metabolic process (GO:0019369)|blood coagulation (GO:0007596)|cell death (GO:0008219)|diacylglycerol catabolic process (GO:0046340)|endocannabinoid signaling pathway (GO:0071926)|neuroblast proliferation (GO:0007405)|neurotransmitter biosynthetic process (GO:0042136)|platelet activation (GO:0030168)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(2)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	43				READ - Rectum adenocarcinoma(4;0.219)		CTCGGAGGGGCGGCTGCTGTC	0.687																																						ENST00000257215.5																			0				breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(2)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	43						c.(2218-2220)Cgg>Tgg		diacylglycerol lipase, alpha							50	64	59					11																	61511050		2184	4226	6410	SO:0001583	missense	747				cell death|lipid catabolic process|platelet activation	integral to membrane|plasma membrane	acylglycerol lipase activity|metal ion binding|triglyceride lipase activity	g.chr11:61511050C>T	AB014559	CCDS31578.1	11q12.3	2008-03-18	2007-02-28	2007-02-28		ENSG00000134780	3.1.1.-		1165	protein-coding gene	gene with protein product	"neural stem cell-derived dendrite regulator"	614015	"chromosome 11 open reading frame 11"	C11orf11		9734811	Standard	NM_006133		Approved	KIAA0659, NSDDR, DAGLALPHA	uc001nsa.3	Q9Y4D2		ENST00000257215.5:c.2218C>T	11.37:g.61511050C>T	ENSP00000257215:p.Arg740Trp						p.R740W	NM_006133.2	NP_006124.1	Q9Y4D2	DGLA_HUMAN		READ - Rectum adenocarcinoma(4;0.219)	20	2334	+			740					A7E233|Q6WQJ0	Missense_Mutation	SNP	ENST00000257215.5	37	c.2218C>T	CCDS31578.1	.	.	.	.	.	.	.	.	.	.	C	12.60	1.985767	0.35036	.	.	ENSG00000134780	ENST00000257215	T	0.25085	1.82	3.1	3.1	0.35709	.	0.128577	0.30840	N	0.008771	T	0.11836	0.0288	N	0.14661	0.345	0.37457	D	0.915062	P	0.51537	0.946	B	0.34346	0.18	T	0.15925	-1.0420	10	0.87932	D	0	-10.7692	10.4511	0.44522	0.247:0.753:0.0:0.0	.	740	Q9Y4D2	DGLA_HUMAN	W	740	ENSP00000257215:R740W	ENSP00000257215:R740W	R	+	1	2	DAGLA	61267626	0.764000	0.28473	0.978000	0.43139	0.761000	0.43186	1.510000	0.35790	2.057000	0.61298	0.484000	0.47621	CGG		0.687	DAGLA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398516.1	NM_006133		7	97	0	0	0	1	0	7	97					T	61511050	C	T	61511050	3	4	435	1	0	0	0	0	1	0	0	0	4226	759	27	1	2292	1	DAGLA	11	61511050	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	14647	61511050	73495466	5171	26096											
C11orf9	745	broad.mit.edu	37	chr11	61537762	61537762	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccctgagacactgtgccacGtgggagtgccctcccgcctg	5	7	12	17	2	0	1	0	1	0	1	1	3	1	2	6	1	2	0	6	1	0	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:61537762G>A	ENST00000278836.5	+	5	601	c.505G>A	c.(505-507)Gtg>Atg	p.V169M	TMEM258_ENST00000535042.1_Intron|MYRF_ENST00000265460.5_Missense_Mutation_p.V160M	NM_001127392.1	NP_001120864.1	Q9Y2G1	MRF_HUMAN	myelin regulatory factor	169	Pro-rich.				central nervous system myelin maintenance (GO:0032286)|central nervous system myelination (GO:0022010)|oligodendrocyte development (GO:0014003)|oligodendrocyte differentiation (GO:0048709)|positive regulation of myelination (GO:0031643)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)|peptidase activity (GO:0008233)|sequence-specific DNA binding transcription factor activity (GO:0003700)										ACTGTGCCACGTGGGAGTGCC	0.687																																						ENST00000278836.5																			0											c.(505-507)Gtg>Atg		myelin regulatory factor							22	20	21					11																	61537762		2199	4299	6498	SO:0001583	missense	745							g.chr11:61537762G>A		CCDS31579.1, CCDS44622.1	11q12-q13.1	2012-12-19	2012-12-19	2012-12-19	ENSG00000124920	ENSG00000124920			1181	protein-coding gene	gene with protein product	"myelin gene regulatory factor"	608329	"chromosome 11 open reading frame 9"	C11orf9		10828591, 12384578	Standard	NM_001127392		Approved	Ndt80, pqn-47, MRF	uc001nsc.1	Q9Y2G1	OTTHUMG00000168161	ENST00000278836.5:c.505G>A	11.37:g.61537762G>A	ENSP00000278836:p.Val169Met					TMEM258_ENST00000535042.1_Intron|MYRF_ENST00000265460.5_Missense_Mutation_p.V160M	p.V169M	NM_001127392.1	NP_001120864.1					5	601	+								O43582|Q9P1Q6	Missense_Mutation	SNP	ENST00000278836.5	37	c.505G>A	CCDS44622.1	.	.	.	.	.	.	.	.	.	.	G	16.36	3.102061	0.56183	.	.	ENSG00000124920	ENST00000278836;ENST00000265460	T;T	0.30981	1.51;1.52	4.55	4.55	0.56014	.	0.229124	0.44285	D	0.000461	T	0.10809	0.0264	N	0.04508	-0.205	0.80722	D	1	P;P	0.39352	0.626;0.669	B;B	0.27608	0.081;0.046	T	0.10428	-1.0630	10	0.30854	T	0.27	-24.4155	8.7171	0.34419	0.2191:0.0:0.7809:0.0	.	160;169	Q9Y2G1-2;Q9Y2G1	.;MRF_HUMAN	M	169;160	ENSP00000278836:V169M;ENSP00000265460:V160M	ENSP00000265460:V160M	V	+	1	0	C11orf9	61294338	0.995000	0.38212	0.999000	0.59377	0.963000	0.63663	2.126000	0.42026	2.469000	0.83416	0.549000	0.68633	GTG		0.687	MYRF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000398519.2	NM_013279		6	5	0	0	0	1	0	6	5					A	61537762	G	A	61537762	3	1	435	1	0	0	0	0	1	0	0	0	1671	1145	40	1	546	1	C11orf9	11	61537762	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	26712	61537762	73468754	5172	26097											
C11orf9	745	broad.mit.edu	37	chr11	61544762	61544762	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aacccaggccagttcgagagCgacagcgatgtgttgtggca	10	7	14	10	3	0	1	0	0	0	1	1	4	0	1	2	2	3	3	2	2	1	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:61544762C>T	ENST00000278836.5	+	12	1713	c.1617C>T	c.(1615-1617)agC>agT	p.S539S	MYRF_ENST00000389602.4_5'Flank|MYRF_ENST00000327797.1_Silent_p.S164S|TMEM258_ENST00000535042.1_Intron|MYRF_ENST00000265460.5_Silent_p.S530S	NM_001127392.1	NP_001120864.1	Q9Y2G1	MRF_HUMAN	myelin regulatory factor	539					central nervous system myelin maintenance (GO:0032286)|central nervous system myelination (GO:0022010)|oligodendrocyte development (GO:0014003)|oligodendrocyte differentiation (GO:0048709)|positive regulation of myelination (GO:0031643)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)|peptidase activity (GO:0008233)|sequence-specific DNA binding transcription factor activity (GO:0003700)										AGTTCGAGAGCGACAGCGATG	0.672																																						ENST00000278836.5																			0											c.(1615-1617)agC>agT		myelin regulatory factor							50	47	48					11																	61544762		2202	4297	6499	SO:0001819	synonymous_variant	745							g.chr11:61544762C>T		CCDS31579.1, CCDS44622.1	11q12-q13.1	2012-12-19	2012-12-19	2012-12-19	ENSG00000124920	ENSG00000124920			1181	protein-coding gene	gene with protein product	"myelin gene regulatory factor"	608329	"chromosome 11 open reading frame 9"	C11orf9		10828591, 12384578	Standard	NM_001127392		Approved	Ndt80, pqn-47, MRF	uc001nsc.1	Q9Y2G1	OTTHUMG00000168161	ENST00000278836.5:c.1617C>T	11.37:g.61544762C>T						TMEM258_ENST00000535042.1_Intron|MYRF_ENST00000265460.5_Silent_p.S530S|MYRF_ENST00000327797.1_Silent_p.S164S	p.S539S	NM_001127392.1	NP_001120864.1					12	1713	+								O43582|Q9P1Q6	Silent	SNP	ENST00000278836.5	37	c.1617C>T	CCDS44622.1																																																																																				0.672	MYRF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000398519.2	NM_013279		14	23	0	0	0	1	0	14	23					T	61544762	C	T	61544762	2	4	435	1	0	0	0	0	0	0	0	1	1671	767	27	1		1	C11orf9	11	61544762	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	7000	61544762	73461754	5173	26098											
FADS1	3992	broad.mit.edu	37	chr11	61570338	61570338	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctatgccatgcttggcacaCaaggactgcaccaggggagc	10	7	12	12	0	1	0	0	0	1	0	1	2	1	2	2	4	4	3	2	4	2	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:61570338C>T	ENST00000350997.7	-	11	1621	c.1389G>A	c.(1387-1389)ttG>ttA	p.L463L	FADS2_ENST00000574708.1_Intron|FADS1_ENST00000433932.1_Silent_p.L322L|FADS1_ENST00000542506.1_Silent_p.L322L|FADS1_ENST00000460649.1_Silent_p.L108L|FADS1_ENST00000536991.1_Silent_p.L154L	NM_013402.4	NP_037534.3	O60427	FADS1_HUMAN	fatty acid desaturase 1	406					alpha-linolenic acid metabolic process (GO:0036109)|cell-cell signaling (GO:0007267)|cellular lipid metabolic process (GO:0044255)|cellular response to starvation (GO:0009267)|icosanoid biosynthetic process (GO:0046456)|linoleic acid metabolic process (GO:0043651)|phospholipid biosynthetic process (GO:0008654)|regulation of cell differentiation (GO:0045595)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|unsaturated fatty acid biosynthetic process (GO:0006636)|unsaturated fatty acid metabolic process (GO:0033559)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrion (GO:0005739)	C-5 sterol desaturase activity (GO:0000248)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxidoreductase activity (GO:0016491)			central_nervous_system(1)|endometrium(1)|lung(1)|urinary_tract(1)	4					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	GCTTGGCACACAAGGACTGCA	0.542																																						ENST00000350997.7																			0				central_nervous_system(1)|endometrium(1)|lung(1)|urinary_tract(1)	4						c.(1387-1389)ttG>ttA		fatty acid desaturase 1	Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)						107	107	107					11																	61570338		2113	4247	6360	SO:0001819	synonymous_variant	3992				cell-cell signaling|cellular response to starvation|electron transport chain|icosanoid biosynthetic process|phospholipid biosynthetic process|regulation of cell differentiation|regulation of transcription, DNA-dependent|transport	endoplasmic reticulum membrane|integral to membrane|microsome	C-5 sterol desaturase activity|heme binding|protein binding	g.chr11:61570338C>T		CCDS8011.2	11q12-q13.1	2013-01-25			ENSG00000149485	ENSG00000149485	1.14.19.3	"Fatty acid desaturases"	3574	protein-coding gene	gene with protein product	"delta-5 desaturase"	606148		LLCDL1			Standard	NM_013402		Approved	D5D, FADSD5, TU12, FADS6	uc010rlm.2	O60427	OTTHUMG00000157155	ENST00000350997.7:c.1389G>A	11.37:g.61570338C>T						FADS1_ENST00000460649.1_Silent_p.L108L|FADS1_ENST00000536991.1_Silent_p.L154L|FADS1_ENST00000433932.1_Silent_p.L322L|FADS2_ENST00000574708.1_Intron|FADS1_ENST00000542506.1_Silent_p.L322L	p.L463L	NM_013402.4	NP_037534.3	O60427	FADS1_HUMAN			11	1621	-			406					A8K0I7|B2RAI0|Q53GM5|Q8N3A6|Q8NCC7|Q8NCG0|Q96I39|Q96SV3|Q96T10|Q9NRP8|Q9NYX1	Silent	SNP	ENST00000350997.7	37	c.1389G>A	CCDS8011.2																																																																																				0.542	FADS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347648.2	NM_013402		10	37	0	0	0	1	0	10	37					T	61570338	C	T	61570338	2	4	435	1	0	0	0	0	0	0	0	1	5365	477	17	3		3	FADS1	11	61570338	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	25576	61570338	73436178	5174	26099											
INCENP	3619	broad.mit.edu	37	chr11	61908487	61908487	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcatgaagtcctttattaagCgcaacactcccctgcgcatg	10	11	7	13	2	1	1	1	1	0	0	3	1	3	1	3	0	3	2	3	0	4	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:61908487C>T	ENST00000394818.3	+	10	1766	c.1564C>T	c.(1564-1566)Cgc>Tgc	p.R522C	INCENP_ENST00000278849.4_Missense_Mutation_p.R522C	NM_001040694.1	NP_001035784.1	Q9NQS7	INCE_HUMAN	inner centromere protein antigens 135/155kDa	522					chromosome segregation (GO:0007059)|cytokinesis (GO:0000910)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	central element (GO:0000801)|chromocenter (GO:0010369)|chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|kinetochore (GO:0000776)|lateral element (GO:0000800)|microtubule (GO:0005874)|midbody (GO:0030496)|pericentric heterochromatin (GO:0005721)|protein complex (GO:0043234)|spindle (GO:0005819)				breast(1)|endometrium(1)|kidney(6)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						CTTTATTAAGCGCAACACTCC	0.622																																						ENST00000394818.3																			0				breast(1)|endometrium(1)|kidney(6)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						c.(1564-1566)Cgc>Tgc		inner centromere protein antigens 135/155kDa							54	53	53					11																	61908487		2202	4299	6501	SO:0001583	missense	3619				chromosome segregation|cytokinesis|mitotic prometaphase	centromeric heterochromatin|condensed chromosome kinetochore|cytosol|microtubule|spindle	protein binding	g.chr11:61908487C>T	AF282265	CCDS31582.1, CCDS44624.1	11q12.3	2013-01-17	2002-08-29		ENSG00000149503	ENSG00000149503			6058	protein-coding gene	gene with protein product		604411	"inner centromere protein antigens (135kD, 155kD)"			1860899, 11453556	Standard	NM_001040694		Approved	FLJ31633	uc001nsw.1	Q9NQS7	OTTHUMG00000167470	ENST00000394818.3:c.1564C>T	11.37:g.61908487C>T	ENSP00000378295:p.Arg522Cys					INCENP_ENST00000278849.4_Missense_Mutation_p.R522C	p.R522C	NM_001040694.1	NP_001035784.1	Q9NQS7	INCE_HUMAN			10	1766	+			522					A8MQD2|Q5Y192	Missense_Mutation	SNP	ENST00000394818.3	37	c.1564C>T	CCDS44624.1	.	.	.	.	.	.	.	.	.	.	C	19.06	3.753081	0.69648	.	.	ENSG00000149503	ENST00000394818;ENST00000278849	T;T	0.44083	0.93;0.93	5.33	5.33	0.75918	.	0.000000	0.51477	D	0.000082	T	0.64735	0.2625	M	0.70275	2.135	0.58432	D	0.999999	P;D;D	0.89917	0.952;1.0;1.0	B;D;D	0.87578	0.4;0.998;0.996	T	0.67699	-0.5603	10	0.72032	D	0.01	.	16.5308	0.84357	0.0:1.0:0.0:0.0	.	522;522;522	B3KPD3;Q9NQS7-2;Q9NQS7	.;.;INCE_HUMAN	C	522	ENSP00000378295:R522C;ENSP00000278849:R522C	ENSP00000278849:R522C	R	+	1	0	INCENP	61665063	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	3.132000	0.50523	2.504000	0.84457	0.563000	0.77884	CGC		0.622	INCENP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000394723.2	NM_020238		6	14	0	0	0	1	0	6	14					T	61908487	C	T	61908487	3	4	435	1	0	0	0	0	1	0	0	0	7733	768	27	1	1598	1	INCENP	11	61908487	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	338149	61908487	73098029	5175	26100											
INCENP	3619	broad.mit.edu	37	chr11	61912668	61912668	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaggaacgcctccgcaaggtGctgcaggcccgcgagcgggt	7	4	17	13	5	0	0	0	0	0	0	1	3	1	1	3	4	4	3	3	4	2	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:61912668G>A	ENST00000394818.3	+	13	1945	c.1743G>A	c.(1741-1743)gtG>gtA	p.V581V	INCENP_ENST00000278849.4_Silent_p.V577V	NM_001040694.1	NP_001035784.1	Q9NQS7	INCE_HUMAN	inner centromere protein antigens 135/155kDa	581					chromosome segregation (GO:0007059)|cytokinesis (GO:0000910)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	central element (GO:0000801)|chromocenter (GO:0010369)|chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|kinetochore (GO:0000776)|lateral element (GO:0000800)|microtubule (GO:0005874)|midbody (GO:0030496)|pericentric heterochromatin (GO:0005721)|protein complex (GO:0043234)|spindle (GO:0005819)				breast(1)|endometrium(1)|kidney(6)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						TCCGCAAGGTGCTGCAGGCCC	0.607																																						ENST00000394818.3																			0				breast(1)|endometrium(1)|kidney(6)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						c.(1741-1743)gtG>gtA		inner centromere protein antigens 135/155kDa							90	94	93					11																	61912668		2202	4299	6501	SO:0001819	synonymous_variant	3619				chromosome segregation|cytokinesis|mitotic prometaphase	centromeric heterochromatin|condensed chromosome kinetochore|cytosol|microtubule|spindle	protein binding	g.chr11:61912668G>A	AF282265	CCDS31582.1, CCDS44624.1	11q12.3	2013-01-17	2002-08-29		ENSG00000149503	ENSG00000149503			6058	protein-coding gene	gene with protein product		604411	"inner centromere protein antigens (135kD, 155kD)"			1860899, 11453556	Standard	NM_001040694		Approved	FLJ31633	uc001nsw.1	Q9NQS7	OTTHUMG00000167470	ENST00000394818.3:c.1743G>A	11.37:g.61912668G>A						INCENP_ENST00000278849.4_Silent_p.V577V	p.V581V	NM_001040694.1	NP_001035784.1	Q9NQS7	INCE_HUMAN			13	1945	+			581					A8MQD2|Q5Y192	Silent	SNP	ENST00000394818.3	37	c.1743G>A	CCDS44624.1																																																																																				0.607	INCENP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000394723.2	NM_020238		25	35	0	0	0	1	0	25	35					A	61912668	G	A	61912668	2	1	435	1	0	0	0	0	0	0	0	1	7733	1306	46	3		3	INCENP	11	61912668	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	4181	61912668	73093848	5176	26101											
ASRGL1	80150	broad.mit.edu	37	chr11	62156640	62156640	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gggtgctgttgccttggactGcaaagggaatgtagcctacg	8	10	15	8	1	0	0	0	0	0	0	0	2	0	2	2	3	5	4	2	3	4	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:62156640G>A	ENST00000415229.2	+	5	742	c.527G>A	c.(526-528)tGc>tAc	p.C176Y	CTD-2531D15.5_ENST00000526045.1_RNA|ASRGL1_ENST00000535727.1_Missense_Mutation_p.C48Y|ASRGL1_ENST00000301776.5_Missense_Mutation_p.C176Y	NM_001083926.1	NP_001077395.1	Q7L266	ASGL1_HUMAN	asparaginase like 1	176					asparagine catabolic process via L-aspartate (GO:0033345)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	asparaginase activity (GO:0004067)|beta-aspartyl-peptidase activity (GO:0008798)			endometrium(1)|kidney(1)|lung(1)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	7					L-Asparagine(DB00174)|L-Aspartic Acid(DB00128)	GCCTTGGACTGCAAAGGGAAT	0.483																																						ENST00000415229.2																			0				endometrium(1)|kidney(1)|lung(1)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	7						c.(526-528)tGc>tAc		asparaginase like 1	L-Asparagine(DB00174)|L-Aspartic Acid(DB00128)						152	141	144					11																	62156640		2202	4299	6501	SO:0001583	missense	80150				asparagine catabolic process via L-aspartate|protein maturation	cytoplasm|microtubule cytoskeleton|nucleus	N4-(beta-N-acetylglucosaminyl)-L-asparaginase activity	g.chr11:62156640G>A		CCDS8019.1	11q12.3	2008-07-18			ENSG00000162174	ENSG00000162174			16448	protein-coding gene	gene with protein product	"asparaginase-like 1 protein"	609212					Standard	NM_025080		Approved	FLJ22316, ALP1, ALP	uc001ntf.4	Q7L266	OTTHUMG00000167513	ENST00000415229.2:c.527G>A	11.37:g.62156640G>A	ENSP00000400057:p.Cys176Tyr					ASRGL1_ENST00000301776.5_Missense_Mutation_p.C176Y|ASRGL1_ENST00000535727.1_Missense_Mutation_p.C48Y	p.C176Y	NM_001083926.1	NP_001077395.1	Q7L266	ASGL1_HUMAN			5	742	+			176					B2R7Q0|Q567Q4|Q6P1P0|Q8NI34|Q9H6F7	Missense_Mutation	SNP	ENST00000415229.2	37	c.527G>A	CCDS8019.1	.	.	.	.	.	.	.	.	.	.	.	9.470	1.095460	0.20471	.	.	ENSG00000162174	ENST00000415229;ENST00000535727;ENST00000301776	D;D;D	0.87103	-2.21;-2.21;-2.21	5.2	-0.822	0.10819	.	0.785452	0.12980	N	0.423325	D	0.82733	0.5101	M	0.66939	2.045	0.09310	N	1	B	0.12630	0.006	B	0.14578	0.011	T	0.72564	-0.4255	10	0.56958	D	0.05	-3.6439	6.8538	0.24030	0.076:0.3514:0.4646:0.108	.	176	Q7L266	ASGL1_HUMAN	Y	176;48;176	ENSP00000400057:C176Y;ENSP00000443284:C48Y;ENSP00000301776:C176Y	ENSP00000301776:C176Y	C	+	2	0	ASRGL1	61913216	0.000000	0.05858	0.493000	0.27502	0.437000	0.31866	-0.169000	0.09911	-0.089000	0.12484	-2.175000	0.00321	TGC		0.483	ASRGL1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394865.1	NM_001083926		57	77	0	0	0	1	0	57	77					A	62156640	G	A	62156640	3	1	435	1	0	0	0	0	1	0	0	0	1060	1319	46	3	541	3	ASRGL1	11	62156640	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	243972	62156640	72849876	5177	26102											
ASRGL1	80150	broad.mit.edu	37	chr11	62156674	62156674	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctacgcaacctccacaggCggtatcgttaataaaatggt	12	9	9	11	3	0	0	0	0	0	0	2	0	1	0	3	3	2	3	3	3	6	4	rs150568119	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:62156674C>T	ENST00000415229.2	+	5	776	c.561C>T	c.(559-561)ggC>ggT	p.G187G	CTD-2531D15.5_ENST00000526045.1_RNA|ASRGL1_ENST00000535727.1_Silent_p.G59G|ASRGL1_ENST00000301776.5_Silent_p.G187G	NM_001083926.1	NP_001077395.1	Q7L266	ASGL1_HUMAN	asparaginase like 1	187					asparagine catabolic process via L-aspartate (GO:0033345)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	asparaginase activity (GO:0004067)|beta-aspartyl-peptidase activity (GO:0008798)			endometrium(1)|kidney(1)|lung(1)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	7					L-Asparagine(DB00174)|L-Aspartic Acid(DB00128)	CCTCCACAGGCGGTATCGTTA	0.542																																						ENST00000415229.2																			0				endometrium(1)|kidney(1)|lung(1)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	7						c.(559-561)ggC>ggT		asparaginase like 1	L-Asparagine(DB00174)|L-Aspartic Acid(DB00128)	C	,	1,4403		0,1,2201	125	117	120		561,561	-1.4	0.1	11	dbSNP_134	120	6,8592		0,6,4293	no	coding-synonymous,coding-synonymous	ASRGL1	NM_001083926.1,NM_025080.3	,	0,7,6494	TT,TC,CC		0.0698,0.0227,0.0538	,	187/309,187/309	62156674	7,12995	2202	4299	6501	SO:0001819	synonymous_variant	80150				asparagine catabolic process via L-aspartate|protein maturation	cytoplasm|microtubule cytoskeleton|nucleus	N4-(beta-N-acetylglucosaminyl)-L-asparaginase activity	g.chr11:62156674C>T		CCDS8019.1	11q12.3	2008-07-18			ENSG00000162174	ENSG00000162174			16448	protein-coding gene	gene with protein product	"asparaginase-like 1 protein"	609212					Standard	NM_025080		Approved	FLJ22316, ALP1, ALP	uc001ntf.4	Q7L266	OTTHUMG00000167513	ENST00000415229.2:c.561C>T	11.37:g.62156674C>T						ASRGL1_ENST00000301776.5_Silent_p.G187G|ASRGL1_ENST00000535727.1_Silent_p.G59G	p.G187G	NM_001083926.1	NP_001077395.1	Q7L266	ASGL1_HUMAN			5	776	+			187					B2R7Q0|Q567Q4|Q6P1P0|Q8NI34|Q9H6F7	Silent	SNP	ENST00000415229.2	37	c.561C>T	CCDS8019.1																																																																																				0.542	ASRGL1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394865.1	NM_001083926		53	58	0	0	0	1	0	53	58					T	62156674	C	T	62156674	2	4	435	1	0	0	0	0	0	0	0	1	1060	755	27	1		1	ASRGL1	11	62156674	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	34	62156674	72849842	5178	26103											
SCGB1A1	7356	broad.mit.edu	37	chr11	62189771	62189771	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	accctccagttatgaggctgCcatggaacttttcagccctg	8	11	9	13	0	1	1	1	1	0	0	2	2	2	2	4	2	3	2	4	2	2	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:62189771C>T	ENST00000278282.2	+	2	195	c.134C>T	c.(133-135)gCc>gTc	p.A45V	SCGB1A1_ENST00000534397.1_Missense_Mutation_p.A10V|CTD-2531D15.4_ENST00000528983.1_RNA	NM_003357.4	NP_003348.1	P11684	UTER_HUMAN	secretoglobin, family 1A, member 1 (uteroglobin)	45					embryo implantation (GO:0007566)|female pregnancy (GO:0007565)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-13 production (GO:0032696)|negative regulation of interleukin-4 production (GO:0032713)|negative regulation of interleukin-5 production (GO:0032714)|negative regulation of T cell proliferation (GO:0042130)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of inflammatory response (GO:0050727)|regulation of mRNA stability (GO:0043488)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to fibroblast growth factor (GO:0071774)|response to glucocorticoid (GO:0051384)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to silicon dioxide (GO:0034021)|response to xenobiotic stimulus (GO:0009410)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nuclear envelope (GO:0005635)|rough endoplasmic reticulum (GO:0005791)|secretory granule (GO:0030141)	phospholipase A2 inhibitor activity (GO:0019834)			lung(1)	1						TATGAGGCTGCCATGGAACTT	0.547																																						ENST00000534397.1																			0				lung(1)	1						c.(28-30)gCc>gTc		secretoglobin, family 1A, member 1 (uteroglobin)							117	105	109					11																	62189771		2202	4299	6501	SO:0001583	missense	7356				embryo implantation|signal transduction	extracellular region	binding|phospholipase A2 inhibitor activity	g.chr11:62189771C>T		CCDS8020.1	11q12.3	2011-12-14	2002-03-22	2002-03-22	ENSG00000149021	ENSG00000149021		"Secretoglobins"	12523	protein-coding gene	gene with protein product	"Uteroglobin (Clara-cell specific 10-kD protein)"	192020	"uteroglobin"	UGB		1284526, 22155607	Standard	NM_003357		Approved	CC10, CCSP, CC16	uc001ntj.3	P11684	OTTHUMG00000167526	ENST00000278282.2:c.134C>T	11.37:g.62189771C>T	ENSP00000278282:p.Ala45Val					CTD-2531D15.4_ENST00000528983.1_RNA|SCGB1A1_ENST00000278282.2_Missense_Mutation_p.A45V	p.A10V			P11684	UTER_HUMAN			3	220	+			45					B2R5F2|Q6FHH3|Q9UCM2|Q9UCM4	Missense_Mutation	SNP	ENST00000278282.2	37	c.29C>T	CCDS8020.1	.	.	.	.	.	.	.	.	.	.	C	16.93	3.257321	0.59321	.	.	ENSG00000149021	ENST00000534397;ENST00000278282	T;T	0.23552	1.9;1.9	4.86	2.98	0.34508	.	0.696652	0.12359	N	0.475814	T	0.30262	0.0759	.	.	.	0.09310	N	1	P	0.42409	0.779	P	0.46796	0.527	T	0.11743	-1.0575	9	0.66056	D	0.02	-16.2757	8.0103	0.30349	0.0:0.8088:0.0:0.1912	.	45	P11684	UTER_HUMAN	V	10;45	ENSP00000432866:A10V;ENSP00000278282:A45V	ENSP00000278282:A45V	A	+	2	0	SCGB1A1	61946347	0.004000	0.15560	0.000000	0.03702	0.001000	0.01503	2.013000	0.40942	0.586000	0.29626	-0.150000	0.13652	GCC		0.547	SCGB1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394925.1	NM_003357		12	28	0	0	0	1	0	12	28					T	62189771	C	T	62189771	3	4	435	1	0	0	0	0	1	0	0	0	13894	739	26	3	140	3	SCGB1A1	11	62189771	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	33097	62189771	72816745	5179	26104											
AHNAK	79026	broad.mit.edu	37	chr11	62284495	62284495	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tccccaccttcaaactccagCgtccccgtcggggtggaagg	7	7	11	16	3	1	0	1	0	0	0	5	1	4	1	6	4	2	0	6	4	2	1	rs570830533		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:62284495C>T	ENST00000378024.4	-	5	17668	c.17394G>A	c.(17392-17394)acG>acA	p.T5798T	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000525875.1_5'UTR|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	5798					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				CAAACTCCAGCGTCCCCGTCG	0.483																																						ENST00000378024.4																			0				NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268						c.(17392-17394)acG>acA		AHNAK nucleoprotein							90	93	92					11																	62284495		2202	4299	6501	SO:0001819	synonymous_variant	79026				nervous system development	nucleus	protein binding	g.chr11:62284495C>T	M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"desmoyokin"	103390	"AHNAK nucleoprotein (desmoyokin)"			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.17394G>A	11.37:g.62284495C>T						AHNAK_ENST00000525875.1_5'UTR|AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	p.T5798T	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN			5	17668	-		Melanoma(852;0.155)	5798					A1A586	Silent	SNP	ENST00000378024.4	37	c.17394G>A	CCDS31584.1																																																																																				0.483	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060		31	47	0	0	0	1	0	31	47					T	62284495	C	T	62284495	2	4	435	1	0	0	0	0	0	0	0	1	414	755	27	1		1	AHNAK	11	62284495	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	94724	62284495	72722021	5180	26105											
AHNAK	79026	broad.mit.edu	37	chr11	62285540	62285540	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccaagttaaagtccacattcGgtgctgaaatccgaggccct	11	9	9	12	2	0	1	0	1	0	0	3	2	2	1	4	2	1	2	4	2	4	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:62285540G>A	ENST00000378024.4	-	5	16623	c.16349C>T	c.(16348-16350)cCg>cTg	p.P5450L	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000525875.1_5'Flank|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	5450					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				GTCCACATTCGGTGCTGAAAT	0.562																																						ENST00000378024.4																			0				NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268						c.(16348-16350)cCg>cTg		AHNAK nucleoprotein							85	85	85					11																	62285540		2202	4299	6501	SO:0001583	missense	79026				nervous system development	nucleus	protein binding	g.chr11:62285540G>A	M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"desmoyokin"	103390	"AHNAK nucleoprotein (desmoyokin)"			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.16349C>T	11.37:g.62285540G>A	ENSP00000367263:p.Pro5450Leu					AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	p.P5450L	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN			5	16623	-		Melanoma(852;0.155)	5450					A1A586	Missense_Mutation	SNP	ENST00000378024.4	37	c.16349C>T	CCDS31584.1	.	.	.	.	.	.	.	.	.	.	G	14.88	2.666742	0.47677	.	.	ENSG00000124942	ENST00000378024	T	0.05717	3.4	4.88	3.94	0.45596	.	0.167110	0.28236	U	0.016099	T	0.31009	0.0783	M	0.92169	3.28	0.47094	D	0.999311	D	0.89917	1.0	D	0.87578	0.998	T	0.19160	-1.0314	10	0.62326	D	0.03	-2.6353	11.2726	0.49148	0.0:0.0:0.6688:0.3312	.	5450	Q09666	AHNK_HUMAN	L	5450	ENSP00000367263:P5450L	ENSP00000367263:P5450L	P	-	2	0	AHNAK	62042116	1.000000	0.71417	0.469000	0.27204	0.543000	0.35085	6.446000	0.73460	0.986000	0.38683	0.453000	0.30009	CCG		0.562	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060		6	70	0	0	0	1	0	6	70					A	62285540	G	A	62285540	3	1	435	1	0	0	0	0	1	0	0	0	414	1116	39	2	1443	2	AHNAK	11	62285540	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	1045	62285540	72720976	5181	26106											
AHNAK	79026	broad.mit.edu	37	chr11	62288746	62288746	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcatggagattttgggggcCttgatgttcatctctggcat	6	14	14	7	0	2	2	1	1	1	1	3	3	2	2	1	5	0	3	1	5	0	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:62288746C>T	ENST00000378024.4	-	5	13417	c.13143G>A	c.(13141-13143)aaG>aaA	p.K4381K	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	4381					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				TTTTGGGGGCCTTGATGTTCA	0.483																																						ENST00000378024.4																			0				NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268						c.(13141-13143)aaG>aaA		AHNAK nucleoprotein							146	154	151					11																	62288746		2202	4299	6501	SO:0001819	synonymous_variant	79026				nervous system development	nucleus	protein binding	g.chr11:62288746C>T	M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"desmoyokin"	103390	"AHNAK nucleoprotein (desmoyokin)"			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.13143G>A	11.37:g.62288746C>T						AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	p.K4381K	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN			5	13417	-		Melanoma(852;0.155)	4381					A1A586	Silent	SNP	ENST00000378024.4	37	c.13143G>A	CCDS31584.1																																																																																				0.483	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060		6	192	0	0	0	1	0	6	192					T	62288746	C	T	62288746	2	4	435	1	0	0	0	0	0	0	0	1	414	680	24	3		3	AHNAK	11	62288746	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	3206	62288746	72717770	5182	26107											
AHNAK	79026	broad.mit.edu	37	chr11	62289163	62289163	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tcaggcatcttgaatttaggGccctttagtttcgcatctgg	7	15	10	9	1	3	1	1	1	2	0	4	1	3	1	1	3	0	3	1	3	3	6			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:62289163G>A	ENST00000378024.4	-	5	13000	c.12726C>T	c.(12724-12726)ggC>ggT	p.G4242G	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	4242					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				TGAATTTAGGGCCCTTTAGTT	0.488																																						ENST00000378024.4																			0				NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268						c.(12724-12726)ggC>ggT		AHNAK nucleoprotein							208	217	214					11																	62289163		2202	4299	6501	SO:0001819	synonymous_variant	79026				nervous system development	nucleus	protein binding	g.chr11:62289163G>A	M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"desmoyokin"	103390	"AHNAK nucleoprotein (desmoyokin)"			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.12726C>T	11.37:g.62289163G>A						AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	p.G4242G	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN			5	13000	-		Melanoma(852;0.155)	4242					A1A586	Silent	SNP	ENST00000378024.4	37	c.12726C>T	CCDS31584.1																																																																																				0.488	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060		100	145	0	0	0	1	0	100	145					A	62289163	G	A	62289163	2	1	435	1	0	0	0	0	0	0	0	1	414	1190	42	3		3	AHNAK	11	62289163	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	417	62289163	72717353	5183	26108											
AHNAK	79026	broad.mit.edu	37	chr11	62290971	62290971	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	attcacgtctggaacatcaaCgtctacattgggaccagaaa	14	9	8	10	2	4	1	2	0	2	1	4	3	4	3	1	2	3	0	1	2	4	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:62290971C>T	ENST00000378024.4	-	5	11192	c.10918G>A	c.(10918-10920)Gtt>Att	p.V3640I	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	3640					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				GGAACATCAACGTCTACATTG	0.483																																						ENST00000378024.4																			0				NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268						c.(10918-10920)Gtt>Att		AHNAK nucleoprotein							193	200	197					11																	62290971		2202	4299	6501	SO:0001583	missense	79026				nervous system development	nucleus	protein binding	g.chr11:62290971C>T	M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"desmoyokin"	103390	"AHNAK nucleoprotein (desmoyokin)"			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.10918G>A	11.37:g.62290971C>T	ENSP00000367263:p.Val3640Ile					AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	p.V3640I	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN			5	11192	-		Melanoma(852;0.155)	3640					A1A586	Missense_Mutation	SNP	ENST00000378024.4	37	c.10918G>A	CCDS31584.1	.	.	.	.	.	.	.	.	.	.	N	0.003	-2.474510	0.00167	.	.	ENSG00000124942	ENST00000378024	T	0.00669	5.9	4.19	-1.1	0.09872	.	0.232564	0.35615	N	0.003089	T	0.00300	0.0009	N	0.01668	-0.77	0.21020	N	0.999808	B	0.02656	0.0	B	0.01281	0.0	T	0.45963	-0.9225	10	0.02654	T	1	-8.8246	6.2628	0.20910	0.0:0.2931:0.1236:0.5833	.	3640	Q09666	AHNK_HUMAN	I	3640	ENSP00000367263:V3640I	ENSP00000367263:V3640I	V	-	1	0	AHNAK	62047547	0.000000	0.05858	0.694000	0.30210	0.013000	0.08279	-1.625000	0.02036	-0.077000	0.12752	-1.568000	0.00874	GTT		0.483	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060		91	134	0	0	0	1	0	91	134					T	62290971	C	T	62290971	3	4	435	1	0	0	0	0	1	0	0	0	414	536	19	1	6874	1	AHNAK	11	62290971	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	1808	62290971	72715545	5184	26109											
AHNAK	79026	broad.mit.edu	37	chr11	62291032	62291032	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agggtaacatcgacttcaggGccttctcctttgaagccagg	9	10	11	11	1	2	1	1	1	1	0	4	2	2	1	3	3	2	1	3	3	2	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:62291032G>A	ENST00000378024.4	-	5	11131	c.10857C>T	c.(10855-10857)ggC>ggT	p.G3619G	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	3619					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				CGACTTCAGGGCCTTCTCCTT	0.478																																						ENST00000378024.4																			0				NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268						c.(10855-10857)ggC>ggT		AHNAK nucleoprotein							203	208	206					11																	62291032		2202	4299	6501	SO:0001819	synonymous_variant	79026				nervous system development	nucleus	protein binding	g.chr11:62291032G>A	M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"desmoyokin"	103390	"AHNAK nucleoprotein (desmoyokin)"			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.10857C>T	11.37:g.62291032G>A						AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	p.G3619G	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN			5	11131	-		Melanoma(852;0.155)	3619					A1A586	Silent	SNP	ENST00000378024.4	37	c.10857C>T	CCDS31584.1																																																																																				0.478	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060		46	235	0	0	0	1	0	46	235					A	62291032	G	A	62291032	2	1	435	1	0	0	0	0	0	0	0	1	414	1190	42	3		3	AHNAK	11	62291032	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	61	62291032	72715484	5185	26110											
AHNAK	79026	broad.mit.edu	37	chr11	62294559	62294559	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ggctttgaaatgcatatcagGcatcttgaacttagggcctt	10	13	10	8	0	2	2	1	2	1	0	2	2	2	2	1	3	2	3	1	3	4	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:62294559G>A	ENST00000378024.4	-	5	7604	c.7330C>T	c.(7330-7332)Cct>Tct	p.P2444S	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	2444					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				TGCATATCAGGCATCTTGAAC	0.468																																						ENST00000378024.4																			0				NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268						c.(7330-7332)Cct>Tct		AHNAK nucleoprotein							112	112	112					11																	62294559		2202	4299	6501	SO:0001583	missense	79026				nervous system development	nucleus	protein binding	g.chr11:62294559G>A	M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"desmoyokin"	103390	"AHNAK nucleoprotein (desmoyokin)"			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.7330C>T	11.37:g.62294559G>A	ENSP00000367263:p.Pro2444Ser					AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	p.P2444S	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN			5	7604	-		Melanoma(852;0.155)	2444					A1A586	Missense_Mutation	SNP	ENST00000378024.4	37	c.7330C>T	CCDS31584.1	.	.	.	.	.	.	.	.	.	.	g	18.16	3.563209	0.65538	.	.	ENSG00000124942	ENST00000244934;ENST00000378024	T	0.05649	3.41	4.15	4.15	0.48705	.	.	.	.	.	T	0.36552	0.0971	H	0.95114	3.625	0.52099	D	0.999947	D	0.71674	0.998	D	0.80764	0.994	T	0.58487	-0.7628	9	0.87932	D	0	.	16.0694	0.80911	0.0:0.0:1.0:0.0	.	2444	Q09666	AHNK_HUMAN	S	533;2444	ENSP00000367263:P2444S	ENSP00000244934:P533S	P	-	1	0	AHNAK	62051135	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	6.147000	0.71783	1.870000	0.54199	0.479000	0.44913	CCT		0.468	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060		58	81	0	0	0	1	0	58	81					A	62294559	G	A	62294559	3	1	435	1	0	0	0	0	1	0	0	0	414	1203	42	3	10462	3	AHNAK	11	62294559	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	3527	62294559	72711957	5186	26111											
AHNAK	79026	broad.mit.edu	37	chr11	62297786	62297786	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	catgaacatccacatctggaGcactaatgtcaactttgggc	12	10	8	11	0	2	1	1	1	1	0	3	2	3	2	1	2	3	1	1	2	3	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:62297786G>T	ENST00000378024.4	-	5	4377	c.4103C>A	c.(4102-4104)gCt>gAt	p.A1368D	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	1368					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				CACATCTGGAGCACTAATGTC	0.493																																						ENST00000378024.4																			0				NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268						c.(4102-4104)gCt>gAt		AHNAK nucleoprotein							265	263	264					11																	62297786		2202	4299	6501	SO:0001583	missense	79026				nervous system development	nucleus	protein binding	g.chr11:62297786G>T	M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"desmoyokin"	103390	"AHNAK nucleoprotein (desmoyokin)"			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.4103C>A	11.37:g.62297786G>T	ENSP00000367263:p.Ala1368Asp					AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	p.A1368D	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN			5	4377	-		Melanoma(852;0.155)	1368					A1A586	Missense_Mutation	SNP	ENST00000378024.4	37	c.4103C>A	CCDS31584.1	.	.	.	.	.	.	.	.	.	.	g	7.136	0.580818	0.13686	.	.	ENSG00000124942	ENST00000378024	T	0.00691	5.84	4.66	1.75	0.24633	.	.	.	.	.	T	0.02119	0.0066	M	0.84683	2.71	0.09310	N	1	P	0.48503	0.911	P	0.48400	0.576	T	0.40739	-0.9547	9	0.25106	T	0.35	.	8.8117	0.34971	0.3178:0.0:0.6822:0.0	.	1368	Q09666	AHNK_HUMAN	D	1368	ENSP00000367263:A1368D	ENSP00000367263:A1368D	A	-	2	0	AHNAK	62054362	0.572000	0.26668	0.005000	0.12908	0.434000	0.31775	0.190000	0.17057	0.163000	0.19507	0.645000	0.84053	GCT		0.493	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060		5	276	1	0	3.59834e-05	1	3.7043e-05	5	276					T	62297786	G	T	62297786	3	4	435	1	0	0	0	0	1	0	0	0	414	971	34	5	13689	5	AHNAK	11	62297786	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	3227	62297786	72708730	5187	26112											
AHNAK	79026	broad.mit.edu	37	chr11	62298776	62298776	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cttcaaggctcagatctggaGcattagtatctacttttggt	9	15	9	8	0	4	1	2	0	2	1	4	2	4	2	0	3	2	3	0	3	4	6			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:62298776G>A	ENST00000378024.4	-	5	3387	c.3113C>T	c.(3112-3114)gCt>gTt	p.A1038V	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	1038					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				CAGATCTGGAGCATTAGTATC	0.463																																						ENST00000378024.4																			0				NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268						c.(3112-3114)gCt>gTt		AHNAK nucleoprotein							89	87	88					11																	62298776		2202	4299	6501	SO:0001583	missense	79026				nervous system development	nucleus	protein binding	g.chr11:62298776G>A	M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"desmoyokin"	103390	"AHNAK nucleoprotein (desmoyokin)"			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.3113C>T	11.37:g.62298776G>A	ENSP00000367263:p.Ala1038Val					AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	p.A1038V	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN			5	3387	-		Melanoma(852;0.155)	1038					A1A586	Missense_Mutation	SNP	ENST00000378024.4	37	c.3113C>T	CCDS31584.1	.	.	.	.	.	.	.	.	.	.	-	0.090	-1.168333	0.01660	.	.	ENSG00000124942	ENST00000378024	T	0.01871	4.59	4.63	3.69	0.42338	.	0.860593	0.10168	N	0.707455	T	0.01523	0.0049	N	0.05619	-0.005	0.28889	N	0.893935	B	0.15930	0.015	B	0.15870	0.014	T	0.37776	-0.9691	10	0.18276	T	0.48	-6.6825	8.9396	0.35722	0.0898:0.1546:0.7555:0.0	.	1038	Q09666	AHNK_HUMAN	V	1038	ENSP00000367263:A1038V	ENSP00000367263:A1038V	A	-	2	0	AHNAK	62055352	0.000000	0.05858	0.996000	0.52242	0.132000	0.20833	-0.264000	0.08658	2.285000	0.76669	0.555000	0.69702	GCT		0.463	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060		34	61	0	0	0	1	0	34	61					A	62298776	G	A	62298776	3	1	435	1	0	0	0	0	1	0	0	0	414	971	34	3	14679	3	AHNAK	11	62298776	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	990	62298776	72707740	5188	26113											
EEF1G	1937	broad.mit.edu	37	chr11	62327564	62327564	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaaggcaagctcctggcctcGgaagacccagactccagaaa	14	4	10	13	1	0	3	0	0	0	3	3	4	2	4	4	3	1	2	4	3	4	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:62327564G>A	ENST00000329251.4	-	9	1262	c.1132C>T	c.(1132-1134)Cga>Tga	p.R378*	MIR3654_ENST00000496634.2_3'UTR|EEF1G_ENST00000378019.3_Nonsense_Mutation_p.R428*	NM_001404.4	NP_001395.1	P26641	EF1G_HUMAN	eukaryotic translation elongation factor 1 gamma	378	EF-1-gamma C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00519}.				cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|response to virus (GO:0009615)|translation (GO:0006412)|translational elongation (GO:0006414)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	translation elongation factor activity (GO:0003746)			breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						TCCTGGCCTCGGAAGACCCAG	0.507																																						ENST00000378019.3																			0				breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						c.(1282-1284)Cga>Tga		eukaryotic translation elongation factor 1 gamma							76	74	75					11																	62327564		1879	4104	5983	SO:0001587	stop_gained	1937				response to virus	cytosol|eukaryotic translation elongation factor 1 complex	protein binding|translation elongation factor activity	g.chr11:62327564G>A	X63526	CCDS44626.1	11q12.3	2008-02-05			ENSG00000254772	ENSG00000254772			3213	protein-coding gene	gene with protein product		130593				1598220, 1461723	Standard	NM_001404		Approved	EF1G	uc001ntm.1	P26641	OTTHUMG00000167567	ENST00000329251.4:c.1132C>T	11.37:g.62327564G>A	ENSP00000331901:p.Arg378*					MIR3654_ENST00000496634.2_3'UTR|EEF1G_ENST00000329251.4_Nonsense_Mutation_p.R378*	p.R428*			P26641	EF1G_HUMAN			9	1372	-			378			EF-1-gamma C-terminal.		B4DTG2|Q6PJ62|Q6PK31|Q96CU2|Q9P196	Nonsense_Mutation	SNP	ENST00000329251.4	37	c.1282C>T	CCDS44626.1	.	.	.	.	.	.	.	.	.	.	G	25.2	4.610712	0.87258	.	.	ENSG00000254772	ENST00000329251;ENST00000378019;ENST00000424909	.	.	.	4.82	1.76	0.24704	.	0.051652	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.9621	0.53015	0.0:0.0:0.3548:0.6452	.	.	.	.	X	378;428;147	.	ENSP00000331901:R378X	R	-	1	2	EEF1G	62084140	1.000000	0.71417	0.999000	0.59377	0.984000	0.73092	2.922000	0.48860	0.200000	0.20447	-0.357000	0.07601	CGA		0.507	EEF1G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395047.1	NM_001404		26	47	0	0	0	1	0	26	47					A	62327564	G	A	62327564	4	1	435	1	0	0	0	0	0	1	0	0	4928	1124	39	2	189	2	EEF1G	11	62327564	Nonsense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	28788	62327564	72678952	5189	26114											
EML3	256364	broad.mit.edu	37	chr11	62370296	62370296	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcgtcggccaccgccaccaCgcgctcgttgtgggagcggc	4	6	15	16	7	0	0	0	0	0	0	3	1	0	1	4	3	1	2	4	3	0	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:62370296C>T	ENST00000394773.2	-	21	2729	c.2422G>A	c.(2422-2424)Gtg>Atg	p.V808M	EML3_ENST00000529309.1_Intron|EML3_ENST00000531557.1_Missense_Mutation_p.V591M|MTA2_ENST00000278823.2_5'Flank|MTA2_ENST00000527204.1_5'Flank|EML3_ENST00000494176.2_Intron|EML3_ENST00000278845.4_Missense_Mutation_p.V809M	NM_153265.2	NP_694997.2	Q32P44	EMAL3_HUMAN	echinoderm microtubule associated protein like 3	808						cytoplasm (GO:0005737)|microtubule (GO:0005874)				biliary_tract(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						ACCGCCACCACGCGCTCGTTG	0.692																																						ENST00000394773.2																			0				biliary_tract(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						c.(2422-2424)Gtg>Atg		echinoderm microtubule associated protein like 3							16	18	17					11																	62370296		2199	4296	6495	SO:0001583	missense	256364					cytoplasm|microtubule	protein binding	g.chr11:62370296C>T	AK093146	CCDS8023.2	11q12.3	2013-01-10			ENSG00000149499	ENSG00000149499		"WD repeat domain containing"	26666	protein-coding gene	gene with protein product						15225882, 14744259	Standard	NM_153265		Approved	FLJ35827, ELP95	uc001ntu.1	Q32P44	OTTHUMG00000149817	ENST00000394773.2:c.2422G>A	11.37:g.62370296C>T	ENSP00000378254:p.Val808Met					EML3_ENST00000529309.1_Intron|EML3_ENST00000531557.1_Missense_Mutation_p.V591M|EML3_ENST00000494176.2_Intron|EML3_ENST00000278845.4_Missense_Mutation_p.V809M	p.V808M	NM_153265.2	NP_694997.2	Q32P44	EMAL3_HUMAN			21	2729	-			808					Q6ZQW7|Q8NA55	Missense_Mutation	SNP	ENST00000394773.2	37	c.2422G>A	CCDS8023.2	.	.	.	.	.	.	.	.	.	.	C	17.36	3.370191	0.61624	.	.	ENSG00000149499	ENST00000394773;ENST00000278845;ENST00000531557	T;T;T	0.41065	1.52;1.01;1.01	5.02	5.02	0.67125	WD40/YVTN repeat-like-containing domain (1);Quinonprotein alcohol dehydrogenase-like (1);	3.431830	0.01232	N	0.008365	T	0.52370	0.1730	L	0.41906	1.305	0.80722	D	1	D;P;P	0.60160	0.987;0.882;0.681	P;B;B	0.52514	0.701;0.14;0.116	T	0.35251	-0.9796	10	0.59425	D	0.04	.	11.7029	0.51581	0.0:0.8212:0.1788:0.0	.	808;591;809	Q32P44;G3V195;B7WPE2	EMAL3_HUMAN;.;.	M	808;809;591	ENSP00000378254:V808M;ENSP00000278845:V809M;ENSP00000433417:V591M	ENSP00000278845:V809M	V	-	1	0	EML3	62126872	0.167000	0.22975	1.000000	0.80357	0.983000	0.72400	0.623000	0.24447	2.341000	0.79615	0.561000	0.74099	GTG		0.692	EML3-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000313432.1	NM_153265		3	10	0	0	0	1	0	3	10					T	62370296	C	T	62370296	3	4	435	1	0	0	0	0	1	0	0	0	5098	536	19	1	276	1	EML3	11	62370296	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	42732	62370296	72636220	5190	26115											
ROM1	6094	broad.mit.edu	37	chr11	62381330	62381330	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gttacctggatcccggtgacCgggatgtggctgagtgagtg	6	10	17	8	2	0	3	0	3	0	0	1	5	1	5	3	4	1	2	3	4	1	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:62381330C>T	ENST00000278833.3	+	1	1118	c.577C>T	c.(577-579)Cgg>Tgg	p.R193W	EML3_ENST00000529309.1_5'Flank|EML3_ENST00000394773.2_5'Flank|EML3_ENST00000531557.1_5'Flank|EML3_ENST00000494176.2_5'Flank|ROM1_ENST00000534093.1_Intron|EML3_ENST00000278845.4_5'Flank	NM_000327.3	NP_000318	Q03395	ROM1_HUMAN	retinal outer segment membrane protein 1	193					camera-type eye photoreceptor cell differentiation (GO:0060219)|cell adhesion (GO:0007155)|regulation of gene expression (GO:0010468)|retina vasculature development in camera-type eye (GO:0061298)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|photoreceptor outer segment membrane (GO:0042622)				central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	8						TCCCGGTGACCGGGATGTGGC	0.622																																						ENST00000278833.3																			0				central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	8						c.(577-579)Cgg>Tgg		retinal outer segment membrane protein 1							57	65	62					11																	62381330		2202	4299	6501	SO:0001583	missense	6094				cell adhesion|visual perception	integral to plasma membrane		g.chr11:62381330C>T	L07894	CCDS8024.1	11q13	2013-02-14				ENSG00000149489		"Tetraspanins"	10254	protein-coding gene	gene with protein product		180721				8504299	Standard	NM_000327		Approved	TSPAN23, ROM	uc001ntv.3	Q03395		ENST00000278833.3:c.577C>T	11.37:g.62381330C>T	ENSP00000278833:p.Arg193Trp					ROM1_ENST00000534093.1_Intron	p.R193W	NM_000327.3	NP_000318.1	Q03395	ROM1_HUMAN			1	1118	+			193					B2R978	Missense_Mutation	SNP	ENST00000278833.3	37	c.577C>T	CCDS8024.1	.	.	.	.	.	.	.	.	.	.	C	12.05	1.821338	0.32237	.	.	ENSG00000149489	ENST00000278833	T	0.03242	4.0	4.89	4.89	0.63831	Tetraspanin, EC2 domain (1);	0.184417	0.46758	D	0.000271	T	0.02267	0.0070	N	0.24115	0.695	0.24140	N	0.995739	P	0.51791	0.948	B	0.28232	0.087	T	0.50608	-0.8808	10	0.87932	D	0	-15.8267	10.6181	0.45462	0.1915:0.8085:0.0:0.0	.	193	Q03395	ROM1_HUMAN	W	193	ENSP00000278833:R193W	ENSP00000278833:R193W	R	+	1	2	ROM1	62137906	0.996000	0.38824	1.000000	0.80357	0.017000	0.09413	0.641000	0.24720	2.544000	0.85801	0.313000	0.20887	CGG		0.622	ROM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394929.1	NM_000327		8	26	0	0	0	1	0	8	26					T	62381330	C	T	62381330	3	4	435	1	0	0	0	0	1	0	0	0	13521	643	23	2	579	2	ROM1	11	62381330	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	11034	62381330	72625186	5191	26116											
GANAB	23193	broad.mit.edu	37	chr11	62396361	62396361	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtgctgagatggtaacagcCatggctctcgtcgcccagtg	7	10	13	11	2	1	1	0	1	1	1	3	2	1	1	2	2	3	3	2	2	1	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:62396361C>T	ENST00000356638.3	-	17	2076	c.2060G>A	c.(2059-2061)tGg>tAg	p.W687*	GANAB_ENST00000540933.1_Nonsense_Mutation_p.W590*|GANAB_ENST00000346178.4_Nonsense_Mutation_p.W709*|GANAB_ENST00000534779.1_Nonsense_Mutation_p.W595*	NM_198334.1	NP_938148.1	Q14697	GANAB_HUMAN	glucosidase, alpha; neutral AB	687					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|glucosidase II complex (GO:0017177)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)|glucan 1,3-alpha-glucosidase activity (GO:0033919)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|ovary(3)|skin(2)|urinary_tract(3)	35					Miglitol(DB00491)	TGGTAACAGCCATGGCTCTCG	0.552																																					Melanoma(23;1005 1074 15747 18937)	ENST00000346178.4																			0				central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|ovary(3)|skin(2)|urinary_tract(3)	35						c.(2125-2127)tGg>tAg		glucosidase, alpha; neutral AB							173	154	161					11																	62396361		2202	4299	6501	SO:0001587	stop_gained	23193				post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|Golgi apparatus|melanosome	carbohydrate binding|glucan 1,3-alpha-glucosidase activity|protein binding	g.chr11:62396361C>T	AF144074	CCDS8026.1, CCDS41656.1, CCDS60817.1, CCDS60818.1	11q12.3	2012-10-02			ENSG00000089597	ENSG00000089597	3.2.1.20		4138	protein-coding gene	gene with protein product		104160				10764838, 6342981	Standard	NM_198335		Approved	GluII, G2AN, KIAA0088	uc001nua.4	Q14697	OTTHUMG00000167696	ENST00000356638.3:c.2060G>A	11.37:g.62396361C>T	ENSP00000349053:p.Trp687*					GANAB_ENST00000534779.1_Nonsense_Mutation_p.W595*|GANAB_ENST00000356638.3_Nonsense_Mutation_p.W687*|GANAB_ENST00000540933.1_Nonsense_Mutation_p.W590*	p.W709*	NM_001278192.1|NM_198335.2	NP_001265121.1|NP_938149.2	Q14697	GANAB_HUMAN			18	2141	-			687					A6NC20|Q8WTS9|Q9P0X0	Nonsense_Mutation	SNP	ENST00000356638.3	37	c.2126G>A	CCDS8026.1	.	.	.	.	.	.	.	.	.	.	C	37	6.539254	0.97646	.	.	ENSG00000089597	ENST00000346178;ENST00000356638;ENST00000534779;ENST00000540933	.	.	.	5.19	5.19	0.71726	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-12.5112	16.2431	0.82426	0.0:1.0:0.0:0.0	.	.	.	.	X	709;687;595;590	.	ENSP00000340466:W709X	W	-	2	0	GANAB	62152937	1.000000	0.71417	0.990000	0.47175	0.938000	0.57974	7.594000	0.82698	2.710000	0.92621	0.655000	0.94253	TGG		0.552	GANAB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000395689.1	NM_198334		27	64	0	0	0	1	0	27	64					T	62396361	C	T	62396361	4	4	435	1	0	0	0	0	0	1	0	0	6233	595	21	3	806	3	GANAB	11	62396361	Nonsense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	15031	62396361	72610155	5192	26117											
GANAB	23193	broad.mit.edu	37	chr11	62397734	62397734	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cgtgggattagtgaagtcagGgtaaccagctgagcctggga	10	8	16	7	1	1	2	1	2	0	0	1	4	1	4	2	3	3	2	2	3	3	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:62397734G>A	ENST00000356638.3	-	13	1544	c.1528C>T	c.(1528-1530)Cct>Tct	p.P510S	GANAB_ENST00000540933.1_Missense_Mutation_p.P413S|GANAB_ENST00000346178.4_Missense_Mutation_p.P532S|GANAB_ENST00000534779.1_Missense_Mutation_p.P418S|GANAB_ENST00000534422.1_5'Flank	NM_198334.1	NP_938148.1	Q14697	GANAB_HUMAN	glucosidase, alpha; neutral AB	510					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|glucosidase II complex (GO:0017177)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)|glucan 1,3-alpha-glucosidase activity (GO:0033919)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|ovary(3)|skin(2)|urinary_tract(3)	35					Miglitol(DB00491)	GTGAAGTCAGGGTAACCAGCT	0.542																																					Melanoma(23;1005 1074 15747 18937)	ENST00000346178.4																			0				central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|ovary(3)|skin(2)|urinary_tract(3)	35						c.(1594-1596)Cct>Tct		glucosidase, alpha; neutral AB							81	70	73					11																	62397734		2202	4299	6501	SO:0001583	missense	23193				post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|Golgi apparatus|melanosome	carbohydrate binding|glucan 1,3-alpha-glucosidase activity|protein binding	g.chr11:62397734G>A	AF144074	CCDS8026.1, CCDS41656.1, CCDS60817.1, CCDS60818.1	11q12.3	2012-10-02			ENSG00000089597	ENSG00000089597	3.2.1.20		4138	protein-coding gene	gene with protein product		104160				10764838, 6342981	Standard	NM_198335		Approved	GluII, G2AN, KIAA0088	uc001nua.4	Q14697	OTTHUMG00000167696	ENST00000356638.3:c.1528C>T	11.37:g.62397734G>A	ENSP00000349053:p.Pro510Ser					GANAB_ENST00000534779.1_Missense_Mutation_p.P418S|GANAB_ENST00000356638.3_Missense_Mutation_p.P510S|GANAB_ENST00000540933.1_Missense_Mutation_p.P413S	p.P532S	NM_001278192.1|NM_198335.2	NP_001265121.1|NP_938149.2	Q14697	GANAB_HUMAN			14	1609	-			510					A6NC20|Q8WTS9|Q9P0X0	Missense_Mutation	SNP	ENST00000356638.3	37	c.1594C>T	CCDS8026.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.24|19.24	3.788803|3.788803	0.70337|0.70337	.|.	.|.	ENSG00000089597|ENSG00000089597	ENST00000540002|ENST00000346178;ENST00000356638;ENST00000534779;ENST00000540933	.|D;D;D;D	.|0.93366	.|-3.21;-3.21;-3.21;-3.21	5.2|5.2	5.2|5.2	0.72013|0.72013	.|Glycoside hydrolase, superfamily (1);	0.000000|0.000000	0.85682|0.85682	D|D	0.000000|0.000000	D|D	0.97049|0.97049	0.9036|0.9036	M|M	0.93507|0.93507	3.425|3.425	0.80722|0.80722	D|D	1|1	.|B;B;D;D	.|0.55605	.|0.261;0.261;0.972;0.965	.|B;B;P;P	.|0.59288	.|0.221;0.324;0.855;0.852	D|D	0.97355|0.97355	0.9966|0.9966	6|10	.|0.54805	.|T	.|0.06	-17.6893|-17.6893	16.2695|16.2695	0.82607|0.82607	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|396;418;510;532	.|B4DIW2;E9PKU7;Q14697;Q14697-2	.|.;.;GANAB_HUMAN;.	L|S	95|532;510;418;413	.|ENSP00000340466:P532S;ENSP00000349053:P510S;ENSP00000435306:P418S;ENSP00000442962:P413S	.|ENSP00000340466:P532S	P|P	-|-	2|1	0|0	GANAB|GANAB	62154310|62154310	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	8.591000|8.591000	0.90824|0.90824	2.706000|2.706000	0.92434|0.92434	0.561000|0.561000	0.74099|0.74099	CCC|CCT		0.542	GANAB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000395689.1	NM_198334		7	10	0	0	0	1	0	7	10					A	62397734	G	A	62397734	3	1	435	1	0	0	0	0	1	0	0	0	6233	1232	43	3	1354	3	GANAB	11	62397734	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	1373	62397734	72608782	5193	26118											
GANAB	23193	broad.mit.edu	37	chr11	62397885	62397885	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ccctcatagtcagagccatcCcgggttttaacatacagccc	10	9	7	15	1	2	1	2	0	0	1	3	1	3	1	4	1	4	1	4	1	3	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:62397885C>A	ENST00000356638.3	-	12	1495	c.1479G>T	c.(1477-1479)cgG>cgT	p.R493R	GANAB_ENST00000540933.1_Silent_p.R396R|GANAB_ENST00000346178.4_Silent_p.R515R|GANAB_ENST00000534779.1_Silent_p.R401R|GANAB_ENST00000534422.1_5'Flank	NM_198334.1	NP_938148.1	Q14697	GANAB_HUMAN	glucosidase, alpha; neutral AB	493					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|glucosidase II complex (GO:0017177)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)|glucan 1,3-alpha-glucosidase activity (GO:0033919)|poly(A) RNA binding (GO:0044822)	p.R493R(1)		central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|ovary(3)|skin(2)|urinary_tract(3)	35					Miglitol(DB00491)	CAGAGCCATCCCGGGTTTTAA	0.597																																					Melanoma(23;1005 1074 15747 18937)	ENST00000346178.4																			1	Substitution - coding silent(1)	p.R493R(1)	ovary(1)	central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|ovary(3)|skin(2)|urinary_tract(3)	35						c.(1543-1545)cgG>cgT		glucosidase, alpha; neutral AB							52	50	51					11																	62397885		2202	4299	6501	SO:0001819	synonymous_variant	23193				post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|Golgi apparatus|melanosome	carbohydrate binding|glucan 1,3-alpha-glucosidase activity|protein binding	g.chr11:62397885C>A	AF144074	CCDS8026.1, CCDS41656.1, CCDS60817.1, CCDS60818.1	11q12.3	2012-10-02			ENSG00000089597	ENSG00000089597	3.2.1.20		4138	protein-coding gene	gene with protein product		104160				10764838, 6342981	Standard	NM_198335		Approved	GluII, G2AN, KIAA0088	uc001nua.4	Q14697	OTTHUMG00000167696	ENST00000356638.3:c.1479G>T	11.37:g.62397885C>A						GANAB_ENST00000534779.1_Silent_p.R401R|GANAB_ENST00000356638.3_Silent_p.R493R|GANAB_ENST00000540933.1_Silent_p.R396R	p.R515R	NM_001278192.1|NM_198335.2	NP_001265121.1|NP_938149.2	Q14697	GANAB_HUMAN			13	1560	-			493					A6NC20|Q8WTS9|Q9P0X0	Silent	SNP	ENST00000356638.3	37	c.1545G>T	CCDS8026.1	.	.	.	.	.	.	.	.	.	.	C	6.995	0.553702	0.13374	.	.	ENSG00000089597	ENST00000540002	.	.	.	5.83	-2.23	0.06930	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-29.1471	1.3555	0.02181	0.2222:0.3898:0.1087:0.2792	.	.	.	.	X	79	.	.	G	-	1	0	GANAB	62154461	0.034000	0.19679	0.999000	0.59377	0.919000	0.55068	-0.724000	0.04947	0.108000	0.17862	-1.101000	0.02118	GGA		0.597	GANAB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000395689.1	NM_198334		16	17	1	0	2.23348e-06	1	2.32236e-06	16	17					A	62397885	C	A	62397885	2	1	435	1	0	0	0	0	0	0	0	1	6233	610	22	5		5	GANAB	11	62397885	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	151	62397885	72608631	5194	26119											
INTS5	80789	broad.mit.edu	37	chr11	62415513	62415513	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttgagcccagctggggatGtctgagacaggcgggtgaga	8	7	17	9	1	1	3	0	3	1	2	1	6	1	4	2	4	2	1	2	4	0	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:62415513G>A	ENST00000330574.2	-	2	2091	c.2039C>T	c.(2038-2040)aCa>aTa	p.T680I	GANAB_ENST00000540933.1_5'Flank|GANAB_ENST00000356638.3_5'Flank|GANAB_ENST00000346178.4_5'Flank|GANAB_ENST00000534779.1_5'Flank	NM_030628.1	NP_085131.1	Q6P9B9	INT5_HUMAN	integrator complex subunit 5	680					snRNA processing (GO:0016180)	integral component of membrane (GO:0016021)|integrator complex (GO:0032039)|membrane (GO:0016020)				breast(1)|endometrium(4)|large_intestine(6)|lung(20)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	36						AGCTGGGGATGTCTGAGACAG	0.592																																						ENST00000330574.2																			0				breast(1)|endometrium(4)|large_intestine(6)|lung(20)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	36						c.(2038-2040)aCa>aTa		integrator complex subunit 5							61	61	61					11																	62415513		2202	4299	6501	SO:0001583	missense	80789				snRNA processing	integral to membrane|integrator complex	protein binding	g.chr11:62415513G>A	AK123587	CCDS8027.1	11q12.3	2006-04-26	2006-03-15	2006-03-15	ENSG00000185085	ENSG00000185085			29352	protein-coding gene	gene with protein product		611349	"KIAA1698"	KIAA1698		16239144	Standard	NM_030628		Approved	INT5	uc001nud.3	Q6P9B9	OTTHUMG00000167605	ENST00000330574.2:c.2039C>T	11.37:g.62415513G>A	ENSP00000327889:p.Thr680Ile						p.T680I	NM_030628.1	NP_085131.1	Q6P9B9	INT5_HUMAN			2	2091	-			680					Q8N6W5|Q9C0G5	Missense_Mutation	SNP	ENST00000330574.2	37	c.2039C>T	CCDS8027.1	.	.	.	.	.	.	.	.	.	.	G	0.368	-0.935365	0.02340	.	.	ENSG00000185085	ENST00000330574	.	.	.	5.44	4.53	0.55603	.	0.282498	0.36932	N	0.002326	T	0.19886	0.0478	N	0.08118	0	0.29671	N	0.842471	B	0.14012	0.009	B	0.09377	0.004	T	0.10520	-1.0626	9	0.23302	T	0.38	.	6.8733	0.24133	0.0856:0.0:0.7389:0.1755	.	680	Q6P9B9	INT5_HUMAN	I	680	.	ENSP00000327889:T680I	T	-	2	0	INTS5	62172089	1.000000	0.71417	1.000000	0.80357	0.333000	0.28666	2.571000	0.45990	1.516000	0.48900	-0.182000	0.12963	ACA		0.592	INTS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395327.1	NM_030628		7	20	0	0	0	1	0	7	20					A	62415513	G	A	62415513	3	1	435	1	0	0	0	0	1	0	0	0	7781	1377	48	3	1024	3	INTS5	11	62415513	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	17628	62415513	72591003	5195	26120											
INTS5	80789	broad.mit.edu	37	chr11	62415761	62415761	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gaggcagattccccaaagtgCgcccctagggctgcagggcc	8	5	14	14	1	0	1	0	0	0	1	1	2	1	1	5	3	2	3	5	3	2	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:62415761C>T	ENST00000330574.2	-	2	1843	c.1791G>A	c.(1789-1791)gcG>gcA	p.A597A	GANAB_ENST00000540933.1_5'Flank|GANAB_ENST00000356638.3_5'Flank|GANAB_ENST00000346178.4_5'Flank|GANAB_ENST00000534779.1_5'Flank	NM_030628.1	NP_085131.1	Q6P9B9	INT5_HUMAN	integrator complex subunit 5	597					snRNA processing (GO:0016180)	integral component of membrane (GO:0016021)|integrator complex (GO:0032039)|membrane (GO:0016020)				breast(1)|endometrium(4)|large_intestine(6)|lung(20)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	36						CCCCAAAGTGCGCCCCTAGGG	0.622																																						ENST00000330574.2																			0				breast(1)|endometrium(4)|large_intestine(6)|lung(20)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	36						c.(1789-1791)gcG>gcA		integrator complex subunit 5							47	45	46					11																	62415761		2202	4299	6501	SO:0001819	synonymous_variant	80789				snRNA processing	integral to membrane|integrator complex	protein binding	g.chr11:62415761C>T	AK123587	CCDS8027.1	11q12.3	2006-04-26	2006-03-15	2006-03-15	ENSG00000185085	ENSG00000185085			29352	protein-coding gene	gene with protein product		611349	"KIAA1698"	KIAA1698		16239144	Standard	NM_030628		Approved	INT5	uc001nud.3	Q6P9B9	OTTHUMG00000167605	ENST00000330574.2:c.1791G>A	11.37:g.62415761C>T							p.A597A	NM_030628.1	NP_085131.1	Q6P9B9	INT5_HUMAN			2	1843	-			597					Q8N6W5|Q9C0G5	Silent	SNP	ENST00000330574.2	37	c.1791G>A	CCDS8027.1																																																																																				0.622	INTS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395327.1	NM_030628		8	25	0	0	0	1	0	8	25					T	62415761	C	T	62415761	2	4	435	1	0	0	0	0	0	0	0	1	7781	755	27	1		1	INTS5	11	62415761	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	248	62415761	72590755	5196	26121											
INTS5	80789	broad.mit.edu	37	chr11	62417078	62417078	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cgctggtgctggcctgagtaCgtgctgctcagttgccccat	4	11	13	13	2	1	1	1	1	0	0	1	1	1	1	3	2	5	6	3	2	1	2	rs143580769		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:62417078C>T	ENST00000330574.2	-	2	526	c.474G>A	c.(472-474)acG>acA	p.T158T	GANAB_ENST00000540933.1_5'Flank|GANAB_ENST00000356638.3_5'Flank|GANAB_ENST00000346178.4_5'Flank|GANAB_ENST00000534779.1_5'Flank	NM_030628.1	NP_085131.1	Q6P9B9	INT5_HUMAN	integrator complex subunit 5	158					snRNA processing (GO:0016180)	integral component of membrane (GO:0016021)|integrator complex (GO:0032039)|membrane (GO:0016020)				breast(1)|endometrium(4)|large_intestine(6)|lung(20)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	36						GGCCTGAGTACGTGCTGCTCA	0.562																																						ENST00000330574.2																			0				breast(1)|endometrium(4)|large_intestine(6)|lung(20)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	36						c.(472-474)acG>acA		integrator complex subunit 5		C		0,4404		0,0,2202	97	91	93		474	-4.3	1	11	dbSNP_134	93	2,8596	2.2+/-6.3	0,2,4297	no	coding-synonymous	INTS5	NM_030628.1		0,2,6499	TT,TC,CC		0.0233,0.0,0.0154		158/1020	62417078	2,13000	2202	4299	6501	SO:0001819	synonymous_variant	80789				snRNA processing	integral to membrane|integrator complex	protein binding	g.chr11:62417078C>T	AK123587	CCDS8027.1	11q12.3	2006-04-26	2006-03-15	2006-03-15	ENSG00000185085	ENSG00000185085			29352	protein-coding gene	gene with protein product		611349	"KIAA1698"	KIAA1698		16239144	Standard	NM_030628		Approved	INT5	uc001nud.3	Q6P9B9	OTTHUMG00000167605	ENST00000330574.2:c.474G>A	11.37:g.62417078C>T							p.T158T	NM_030628.1	NP_085131.1	Q6P9B9	INT5_HUMAN			2	526	-			158					Q8N6W5|Q9C0G5	Silent	SNP	ENST00000330574.2	37	c.474G>A	CCDS8027.1																																																																																				0.562	INTS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395327.1	NM_030628		19	23	0	0	0	1	0	19	23					T	62417078	C	T	62417078	2	4	435	1	0	0	0	0	0	0	0	1	7781	523	19	1		1	INTS5	11	62417078	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	1317	62417078	72589438	5197	26122											
INTS5	80789	broad.mit.edu	37	chr11	62417235	62417235	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagggacatgagagggtggaGgtggacggaggtgaggtgga	10	5	23	3	1	0	2	0	2	0	1	0	8	0	7	0	9	0	0	0	9	0	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:62417235G>T	ENST00000330574.2	-	2	369	c.317C>A	c.(316-318)cCt>cAt	p.P106H	RP11-831H9.11_ENST00000528405.1_3'UTR	NM_030628.1	NP_085131.1	Q6P9B9	INT5_HUMAN	integrator complex subunit 5	106					snRNA processing (GO:0016180)	integral component of membrane (GO:0016021)|integrator complex (GO:0032039)|membrane (GO:0016020)				breast(1)|endometrium(4)|large_intestine(6)|lung(20)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	36						AGAGGGTGGAGGTGGACGGAG	0.597																																						ENST00000330574.2																			0				breast(1)|endometrium(4)|large_intestine(6)|lung(20)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	36						c.(316-318)cCt>cAt		integrator complex subunit 5							116	123	121					11																	62417235		2202	4299	6501	SO:0001583	missense	80789				snRNA processing	integral to membrane|integrator complex	protein binding	g.chr11:62417235G>T	AK123587	CCDS8027.1	11q12.3	2006-04-26	2006-03-15	2006-03-15	ENSG00000185085	ENSG00000185085			29352	protein-coding gene	gene with protein product		611349	"KIAA1698"	KIAA1698		16239144	Standard	NM_030628		Approved	INT5	uc001nud.3	Q6P9B9	OTTHUMG00000167605	ENST00000330574.2:c.317C>A	11.37:g.62417235G>T	ENSP00000327889:p.Pro106His					RP11-831H9.11_ENST00000528405.1_3'UTR	p.P106H	NM_030628.1	NP_085131.1	Q6P9B9	INT5_HUMAN			2	369	-			106					Q8N6W5|Q9C0G5	Missense_Mutation	SNP	ENST00000330574.2	37	c.317C>A	CCDS8027.1	.	.	.	.	.	.	.	.	.	.	G	12.43	1.934222	0.34096	.	.	ENSG00000185085	ENST00000330574	.	.	.	4.61	3.7	0.42460	.	0.205916	0.32736	N	0.005719	T	0.34308	0.0893	N	0.22421	0.69	0.29093	N	0.881978	B	0.30664	0.289	B	0.40329	0.326	T	0.34428	-0.9829	9	0.42905	T	0.14	.	10.3799	0.44106	0.0957:0.0:0.9043:0.0	.	106	Q6P9B9	INT5_HUMAN	H	106	.	ENSP00000327889:P106H	P	-	2	0	INTS5	62173811	0.999000	0.42202	1.000000	0.80357	0.964000	0.63967	1.846000	0.39289	1.172000	0.42781	0.561000	0.74099	CCT		0.597	INTS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395327.1	NM_030628		35	53	1	0	1.26612e-14	1	1.38261e-14	35	53					T	62417235	G	T	62417235	3	4	435	1	0	0	0	0	1	0	0	0	7781	1000	35	5	2746	5	INTS5	11	62417235	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	157	62417235	72589281	5198	26123											
UBXN1	51035	broad.mit.edu	37	chr11	62445452	62445452	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctcctcagcagcccggcgCatctcatcttcctgtagccg	5	10	8	18	3	4	0	2	0	3	0	7	0	5	0	4	1	3	3	4	1	1	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:62445452C>T	ENST00000301935.5	-	5	595	c.429G>A	c.(427-429)atG>atA	p.M143I	UBXN1_ENST00000294119.2_Missense_Mutation_p.M143I|UBXN1_ENST00000529640.1_Missense_Mutation_p.M143I|UBXN1_ENST00000533000.1_Start_Codon_SNP_p.M1I|UBXN1_ENST00000524762.1_5'UTR			Q04323	UBXN1_HUMAN	UBX domain protein 1	143	Interaction with BRCA1.				negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|negative regulation of protein ubiquitination (GO:0031397)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)	Cdc48p-Npl4p-Ufd1p AAA ATPase complex (GO:0034098)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	ATPase binding (GO:0051117)|K6-linked polyubiquitin binding (GO:0071796)|polyubiquitin binding (GO:0031593)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)			endometrium(5)|lung(12)	17						CAGCCCGGCGCATCTCATCTT	0.567																																						ENST00000294119.2																			0				endometrium(5)|lung(12)	17						c.(427-429)atG>atA		UBX domain protein 1							72	61	64					11																	62445452		2202	4299	6501	SO:0001583	missense	51035				negative regulation of proteasomal ubiquitin-dependent protein catabolic process|negative regulation of protein ubiquitination|proteasomal ubiquitin-dependent protein catabolic process	cytoplasm	ATPase binding|K6-linked polyubiquitin binding	g.chr11:62445452C>T		CCDS8029.1, CCDS66105.1, CCDS73307.1	11q23	2014-02-12	2008-07-25		ENSG00000162191	ENSG00000162191		"UBX domain containing"	18402	protein-coding gene	gene with protein product	"SAPK substrate protein 1"					12838346, 20351172	Standard	NM_001286078		Approved	LOC51035, 2B28, UBXD10, SAKS1	uc001nuj.3	Q04323	OTTHUMG00000167580	ENST00000301935.5:c.429G>A	11.37:g.62445452C>T	ENSP00000303991:p.Met143Ile					UBXN1_ENST00000301935.5_Missense_Mutation_p.M143I|UBXN1_ENST00000533000.1_Start_Codon_SNP_p.M1I|UBXN1_ENST00000524762.1_5'UTR|UBXN1_ENST00000529640.1_Missense_Mutation_p.M143I	p.M143I	NM_015853.3	NP_056937.2	Q04323	UBXN1_HUMAN			5	560	-			143			Interaction with BRCA1.		Q9BV93|Q9BVV5	Missense_Mutation	SNP	ENST00000301935.5	37	c.429G>A		.	.	.	.	.	.	.	.	.	.	C	18.77	3.695751	0.68386	.	.	ENSG00000162191	ENST00000294119;ENST00000301935;ENST00000533000;ENST00000537534;ENST00000529640;ENST00000534176	T;T;T;T	0.23348	1.91;1.96;1.97;1.96	5.31	4.39	0.52855	.	0.067875	0.85682	N	0.000000	T	0.30324	0.0761	N	0.16368	0.405	0.53688	D	0.999973	B;P;P;B	0.49447	0.0;0.924;0.675;0.003	B;P;B;B	0.60682	0.001;0.878;0.091;0.003	T	0.06679	-1.0813	10	0.39692	T	0.17	-13.9416	12.8602	0.57910	0.0:0.9181:0.0:0.0819	.	143;143;143;143	B4DNC6;E9PRQ7;Q04323;Q04323-2	.;.;UBXN1_HUMAN;.	I	143;143;1;46;143;143	ENSP00000294119:M143I;ENSP00000303991:M143I;ENSP00000435964:M143I;ENSP00000435625:M143I	ENSP00000294119:M143I	M	-	3	0	UBXN1	62202028	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.527000	0.53517	1.540000	0.49301	0.561000	0.74099	ATG		0.567	UBXN1-002	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000395153.1	NM_015853		9	19	0	0	0	1	0	9	19					T	62445452	C	T	62445452	3	4	435	1	0	0	0	0	1	0	0	0	16908	710	25	3	525	3	UBXN1	11	62445452	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	28217	62445452	72561064	5199	26124											
BSCL2	26580	broad.mit.edu	37	chr11	62458558	62458558	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cacctttacctggctgatgaGcagagatccttcgttggact	8	12	10	11	1	0	3	0	2	0	1	2	5	1	4	3	2	2	3	3	2	1	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:62458558G>A	ENST00000403550.1	-	8	1292	c.869C>T	c.(868-870)gCt>gTt	p.A290V	BSCL2_ENST00000278893.7_Missense_Mutation_p.L243F|BSCL2_ENST00000360796.5_Missense_Mutation_p.A354V|BSCL2_ENST00000407022.3_Missense_Mutation_p.A290V|HNRNPUL2-BSCL2_ENST00000403734.2_3'UTR|BSCL2_ENST00000405837.1_Missense_Mutation_p.A354V|LRRN4CL_ENST00000317449.4_5'Flank|BSCL2_ENST00000421906.1_Missense_Mutation_p.A290V|BSCL2_ENST00000433053.1_Missense_Mutation_p.A354V			Q96G97	BSCL2_HUMAN	Berardinelli-Seip congenital lipodystrophy 2 (seipin)	290					cell death (GO:0008219)|fat cell differentiation (GO:0045444)|lipid catabolic process (GO:0016042)|lipid particle organization (GO:0034389)|lipid storage (GO:0019915)|negative regulation of lipid catabolic process (GO:0050995)	integral component of endoplasmic reticulum membrane (GO:0030176)				endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)|skin(1)	12						TGGCTGATGAGCAGAGATCCT	0.537																																						ENST00000433053.1																			0				endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)|skin(1)	12						c.(1060-1062)gCt>gTt		Berardinelli-Seip congenital lipodystrophy 2 (seipin)							119	95	103					11																	62458558		2202	4299	6501	SO:0001583	missense	26580				cell death	integral to endoplasmic reticulum membrane		g.chr11:62458558G>A		CCDS8031.1, CCDS44627.1, CCDS55769.1	11q13	2014-09-17	2009-07-30		ENSG00000168000	ENSG00000168000			15832	protein-coding gene	gene with protein product		606158	"spastic paraplegia 17 (Silver syndrome)"	GNG3LG, SPG17		11479539, 14981520	Standard	NM_001122955		Approved		uc001nur.4	Q96G97	OTTHUMG00000150624	ENST00000403550.1:c.869C>T	11.37:g.62458558G>A	ENSP00000385561:p.Ala290Val					BSCL2_ENST00000407022.3_Missense_Mutation_p.A290V|BSCL2_ENST00000421906.1_Missense_Mutation_p.A290V|RP11-831H9.16_ENST00000403734.2_3'UTR|BSCL2_ENST00000403550.1_Missense_Mutation_p.A290V|BSCL2_ENST00000360796.5_Missense_Mutation_p.A354V|BSCL2_ENST00000278893.7_Missense_Mutation_p.L243F|BSCL2_ENST00000405837.1_Missense_Mutation_p.A354V	p.A354V			Q96G97	BSCL2_HUMAN			9	1617	-			290					G3XAE4|Q567S1|Q96SV1|Q9BSQ0	Missense_Mutation	SNP	ENST00000403550.1	37	c.1061C>T	CCDS8031.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.60|12.60	1.988019|1.988019	0.35036|0.35036	.|.	.|.	ENSG00000168000|ENSG00000168000	ENST00000449636;ENST00000405837;ENST00000433053;ENST00000360796;ENST00000403550;ENST00000407022;ENST00000421906|ENST00000278893	D;D;D;D;D;D|D	0.89681|0.91351	-2.55;-2.46;-2.46;-2.42;-2.42;-2.42|-2.83	5.1|5.1	0.765|0.765	0.18470|0.18470	.|.	1.158180|.	0.06753|.	U|.	0.780399|.	D|D	0.82504|0.82504	0.5051|0.5051	.|.	.|.	.|.	0.09310|0.09310	N|N	1|1	B;B;B|B	0.25904|0.22683	0.049;0.137;0.049|0.073	B;B;B|B	0.25140|0.24848	0.01;0.058;0.01|0.056	T|T	0.68716|0.68716	-0.5335|-0.5335	9|8	0.36615|0.35671	T|T	0.2|0.21	-21.4586|-21.4586	3.7329|3.7329	0.08500|0.08500	0.0903:0.3199:0.4357:0.154|0.0903:0.3199:0.4357:0.154	.|.	290;354;290|243	Q53EN3;G3XAE4;Q96G97|Q96G97-3	.;.;BSCL2_HUMAN|.	V|F	39;354;354;354;290;290;290|243	ENSP00000385332:A354V;ENSP00000414002:A354V;ENSP00000354032:A354V;ENSP00000385561:A290V;ENSP00000384080:A290V;ENSP00000413209:A290V|ENSP00000278893:L243F	ENSP00000354032:A354V|ENSP00000278893:L243F	A|L	-|-	2|1	0|0	BSCL2|BSCL2	62215134|62215134	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.175000|0.175000	0.22909|0.22909	0.377000|0.377000	0.20552|0.20552	0.154000|0.154000	0.19237|0.19237	0.561000|0.561000	0.74099|0.74099	GCT|CTC		0.537	BSCL2-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000319185.1	NM_032667		20	28	0	0	0	1	0	20	28					A	62458558	G	A	62458558	3	1	435	1	0	0	0	0	1	0	0	0	1527	971	34	3	343	3	BSCL2	11	62458558	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	13106	62458558	72547958	5200	26125											
TTC9C	283237	broad.mit.edu	37	chr11	62505762	62505762	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctccatcatcttccaagatGccaacgtccggcggtacctc	8	10	7	16	3	3	1	1	0	2	1	7	1	5	1	5	2	3	1	5	2	3	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:62505762G>A	ENST00000316461.4	+	3	734	c.424G>A	c.(424-426)Gcc>Acc	p.A142T	TTC9C_ENST00000532583.1_Missense_Mutation_p.A142T	NM_173810.3	NP_776171.1	Q8N5M4	TTC9C_HUMAN	tetratricopeptide repeat domain 9C	142										breast(1)|endometrium(1)|lung(2)|ovary(1)|pancreas(1)	6						CTTCCAAGATGCCAACGTCCG	0.448																																						ENST00000316461.4																			0				breast(1)|endometrium(1)|lung(2)|ovary(1)|pancreas(1)	6						c.(424-426)Gcc>Acc		tetratricopeptide repeat domain 9C							57	50	52					11																	62505762		2202	4299	6501	SO:0001583	missense	283237						binding	g.chr11:62505762G>A	BC032123	CCDS8033.1	11q12.3	2013-01-10			ENSG00000162222	ENSG00000162222		"Tetratricopeptide (TTC) repeat domain containing"	28432	protein-coding gene	gene with protein product							Standard	NM_173810		Approved	MGC29649	uc001nuy.3	Q8N5M4	OTTHUMG00000167607	ENST00000316461.4:c.424G>A	11.37:g.62505762G>A	ENSP00000325266:p.Ala142Thr					TTC9C_ENST00000532583.1_Missense_Mutation_p.A142T	p.A142T	NM_173810.3	NP_776171.1	Q8N5M4	TTC9C_HUMAN			3	734	+			142					Q8WYY7	Missense_Mutation	SNP	ENST00000316461.4	37	c.424G>A	CCDS8033.1	.	.	.	.	.	.	.	.	.	.	G	10.38	1.334579	0.24253	.	.	ENSG00000162222	ENST00000316461;ENST00000532583;ENST00000532276	T;T;T	0.75050	2.28;2.28;-0.9	6.07	4.16	0.48862	Tetratricopeptide-like helical (1);	.	.	.	.	T	0.62282	0.2415	L	0.41492	1.28	0.80722	D	1	B	0.19445	0.036	B	0.15870	0.014	T	0.52997	-0.8500	9	0.17832	T	0.49	.	10.2218	0.43201	0.166:0.0:0.834:0.0	.	142	Q8N5M4	TTC9C_HUMAN	T	142;142;40	ENSP00000325266:A142T;ENSP00000434340:A142T;ENSP00000434137:A40T	ENSP00000325266:A142T	A	+	1	0	TTC9C	62262338	0.973000	0.33851	0.996000	0.52242	0.989000	0.77384	1.766000	0.38491	0.849000	0.35215	0.655000	0.94253	GCC		0.448	TTC9C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395338.1	NM_173810		8	17	0	0	0	1	0	8	17					A	62505762	G	A	62505762	3	1	435	1	0	0	0	0	1	0	0	0	16714	1319	46	3	434	3	TTC9C	11	62505762	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	47204	62505762	72500754	5201	26126											
ZBTB3	79842	broad.mit.edu	37	chr11	62519768	62519768	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccctgactgcgtgtagctccGcaggcagtagcggcactcat	7	8	12	14	3	1	1	1	1	0	0	2	1	2	1	2	2	3	6	2	2	2	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:62519768G>A	ENST00000394807.3	-	2	1644	c.1519C>T	c.(1519-1521)Cgg>Tgg	p.R507W		NM_024784.3	NP_079060.1	Q9H5J0	ZBTB3_HUMAN	zinc finger and BTB domain containing 3	507					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(4)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(9)|ovary(2)|prostate(2)	24						GTGTAGCTCCGCAGGCAGTAG	0.587																																						ENST00000394807.3																			0				breast(4)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(9)|ovary(2)|prostate(2)	24						c.(1519-1521)Cgg>Tgg		zinc finger and BTB domain containing 3							90	83	85					11																	62519768		2202	4299	6501	SO:0001583	missense	79842				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr11:62519768G>A	AK027045	CCDS8034.1	11q12.3	2013-01-09				ENSG00000185670		"-", "BTB/POZ domain containing", "Zinc fingers, C2H2-type"	22918	protein-coding gene	gene with protein product							Standard	NM_024784		Approved	FLJ23392	uc001nuz.3	Q9H5J0		ENST00000394807.3:c.1519C>T	11.37:g.62519768G>A	ENSP00000378286:p.Arg507Trp						p.R507W	NM_024784.3	NP_079060.1	Q9H5J0	ZBTB3_HUMAN			2	1644	-			507						Missense_Mutation	SNP	ENST00000394807.3	37	c.1519C>T	CCDS8034.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.131172	0.77549	.	.	ENSG00000185670	ENST00000394807	T	0.19806	2.12	4.61	4.61	0.57282	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.43986	0.1272	M	0.64170	1.965	0.51482	D	0.99992	D	0.89917	1.0	D	0.97110	1.0	T	0.42882	-0.9425	10	0.87932	D	0	.	14.9584	0.71135	0.0:0.0:1.0:0.0	.	507	Q9H5J0	ZBTB3_HUMAN	W	507	ENSP00000378286:R507W	ENSP00000378286:R507W	R	-	1	2	ZBTB3	62276344	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	3.716000	0.54904	2.120000	0.65058	0.561000	0.74099	CGG		0.587	ZBTB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395342.1	NM_024784		19	35	0	0	0	1	0	19	35					A	62519768	G	A	62519768	3	1	435	1	0	0	0	0	1	0	0	0	17531	1086	38	1	209	1	ZBTB3	11	62519768	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	14006	62519768	72486748	5202	26127											
SLC22A8	9376	broad.mit.edu	37	chr11	62768217	62768217	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agacaggtctccaagcacgaGccctccaatcagtatacctg	12	7	8	14	1	2	1	1	0	1	1	4	2	3	1	4	1	3	2	4	1	4	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:62768217G>T	ENST00000336232.2	-	3	547	c.412C>A	c.(412-414)Ctc>Atc	p.L138I	SLC22A8_ENST00000545207.1_Missense_Mutation_p.L47I|SLC22A8_ENST00000535878.1_Missense_Mutation_p.L15I|SLC22A8_ENST00000311438.8_Missense_Mutation_p.L138I|SLC22A8_ENST00000430500.2_Missense_Mutation_p.L138I|SLC22A8_ENST00000542795.1_5'UTR	NM_001184732.1|NM_001184736.1|NM_004254.3	NP_001171661.1|NP_001171665.1|NP_004245.2	Q8TCC7	S22A8_HUMAN	solute carrier family 22 (organic anion transporter), member 8	138					glutathione transport (GO:0034635)|response to methotrexate (GO:0031427)|response to toxic substance (GO:0009636)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|organic anion transmembrane transporter activity (GO:0008514)|quaternary ammonium group transmembrane transporter activity (GO:0015651)			endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	28					Aciclovir(DB00787)|Adefovir Dipivoxil(DB00718)|Allopurinol(DB00437)|Aminohippurate(DB00345)|Aspartame(DB00168)|Baclofen(DB00181)|Benzylpenicillin(DB01053)|Bumetanide(DB00887)|Cefacetrile(DB01414)|Cefadroxil(DB01140)|Cefalotin(DB00456)|Cefamandole(DB01326)|Cefazolin(DB01327)|Cefoperazone(DB01329)|Cefotaxime(DB00493)|Ceftriaxone(DB01212)|Cephalexin(DB00567)|Cilastatin(DB01597)|Cimetidine(DB00501)|Conjugated Estrogens(DB00286)|Dabrafenib(DB08912)|Diclofenac(DB00586)|Digoxin(DB00390)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Doxycycline(DB00254)|Enalapril(DB00584)|Estradiol(DB00783)|Famotidine(DB00927)|Furosemide(DB00695)|Ganciclovir(DB01004)|Guanidine(DB00536)|Ibuprofen(DB01050)|Indomethacin(DB00328)|Ketoprofen(DB01009)|L-Carnitine(DB00583)|Liothyronine(DB00279)|Liotrix(DB01583)|Melatonin(DB01065)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|Methyltestosterone(DB06710)|Minocycline(DB01017)|Novobiocin(DB01051)|Oseltamivir(DB00198)|Ouabain(DB01092)|Oxytetracycline(DB00595)|Phenylbutazone(DB00812)|Piroxicam(DB00554)|Pravastatin(DB00175)|Probenecid(DB01032)|Quinidine(DB00908)|Ranitidine(DB00863)|Salicylic acid(DB00936)|Saxagliptin(DB06335)|Succinic acid(DB00139)|Tenofovir(DB00300)|Tenoxicam(DB00469)|Testosterone(DB00624)|Tetracycline(DB00759)|Valaciclovir(DB00577)|Valproic Acid(DB00313)|Zidovudine(DB00495)	CCAAGCACGAGCCCTCCAATC	0.557																																						ENST00000336232.2																			0				endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	28						c.(412-414)Ctc>Atc		solute carrier family 22 (organic anion transporter), member 8							151	108	122					11																	62768217		2201	4298	6499	SO:0001583	missense	9376				response to toxin	basolateral plasma membrane|integral to plasma membrane|membrane fraction	inorganic anion exchanger activity|organic anion transmembrane transporter activity	g.chr11:62768217G>T	AF097491, BC022387	CCDS8042.1, CCDS53643.1, CCDS53644.1	11q12.3	2013-05-22			ENSG00000149452	ENSG00000149452		"Solute carriers"	10972	protein-coding gene	gene with protein product		607581				10049739	Standard	NM_004254		Approved	OAT3	uc001nwo.3	Q8TCC7	OTTHUMG00000167768	ENST00000336232.2:c.412C>A	11.37:g.62768217G>T	ENSP00000337335:p.Leu138Ile					SLC22A8_ENST00000545207.1_Missense_Mutation_p.L47I|SLC22A8_ENST00000430500.2_Missense_Mutation_p.L138I|SLC22A8_ENST00000542795.1_5'UTR|SLC22A8_ENST00000311438.8_Missense_Mutation_p.L138I|SLC22A8_ENST00000535878.1_Missense_Mutation_p.L15I	p.L138I	NM_001184732.1|NM_001184736.1|NM_004254.3	NP_001171661.1|NP_001171665.1|NP_004245.2	Q8TCC7	S22A8_HUMAN			3	547	-			138					B4DPH7|F5GWA8|F5H5J1|O95820|Q59EW9|Q96TC1	Missense_Mutation	SNP	ENST00000336232.2	37	c.412C>A	CCDS8042.1	.	.	.	.	.	.	.	.	.	.	G	4.396	0.073047	0.08485	.	.	ENSG00000149452	ENST00000336232;ENST00000540631;ENST00000545207;ENST00000535878;ENST00000311438;ENST00000430500	T;T;T;T;T	0.60672	0.17;0.17;0.17;0.17;0.17	4.45	2.22	0.28083	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.992306	0.08186	N	0.984736	T	0.35480	0.0933	N	0.11845	0.185	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.11329	0.003;0.006	T	0.14868	-1.0457	10	0.06365	T	0.9	.	9.9999	0.41922	0.0:0.0:0.652:0.348	.	138;138	Q8TCC7-2;Q8TCC7	.;S22A8_HUMAN	I	138;124;47;15;138;138	ENSP00000337335:L138I;ENSP00000441658:L47I;ENSP00000443368:L15I;ENSP00000311463:L138I;ENSP00000398548:L138I	ENSP00000311463:L138I	L	-	1	0	SLC22A8	62524793	0.001000	0.12720	0.174000	0.22961	0.852000	0.48524	-0.000000	0.12993	0.406000	0.25560	0.313000	0.20887	CTC		0.557	SLC22A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396191.1	NM_004254		38	49	1	0	1.7489e-18	1	1.93039e-18	38	49					T	62768217	G	T	62768217	3	4	435	1	0	0	0	0	1	0	0	0	14460	971	34	5	1252	5	SLC22A8	11	62768217	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	248449	62768217	72238299	5203	26128											
SLC22A24	283238	broad.mit.edu	37	chr11	62910984	62910984	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccactggggatggataaagcGctgacacttctgtggcctca	9	9	12	11	1	2	1	1	1	1	0	2	3	2	3	2	4	1	1	2	4	2	2	rs556942414	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:62910984G>A	ENST00000417740.1	-	1	709	c.268C>T	c.(268-270)Cgc>Tgc	p.R90C	SLC22A10_ENST00000525620.1_Intron|SLC22A24_ENST00000326192.5_Missense_Mutation_p.R90C	NM_001136506.2	NP_001129978.2	Q8N4F4	S22AO_HUMAN	solute carrier family 22, member 24	90					ion transport (GO:0006811)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)				kidney(1)|stomach(1)	2						TGGATAAAGCGCTGACACTTC	0.557													G|||	3	0.000599042	0	0	5008	,	,		18377	0		0.003	False		,,,				2504	0					ENST00000417740.1																			0				kidney(1)|stomach(1)	2						c.(268-270)Cgc>Tgc		solute carrier family 22, member 24							95	101	100					11																	62910984		692	1591	2283	SO:0001583	missense	283238							g.chr11:62910984G>A		CCDS73308.1	11q12.3	2013-05-22			ENSG00000197658	ENSG00000197658		"Solute carriers"	28542	protein-coding gene	gene with protein product		611698				17714910	Standard	NM_001136506		Approved	MGC34821, NET46	uc021qkp.1	Q8N4F4	OTTHUMG00000165372	ENST00000417740.1:c.268C>T	11.37:g.62910984G>A	ENSP00000396586:p.Arg90Cys					SLC22A10_ENST00000525620.1_Intron|SLC22A24_ENST00000326192.5_Missense_Mutation_p.R90C	p.R90C	NM_001136506.2	NP_001129978.2					1	709	-									Missense_Mutation	SNP	ENST00000417740.1	37	c.268C>T		.	.	.	.	.	.	.	.	.	.	G	9.331	1.060480	0.19987	.	.	ENSG00000197658	ENST00000417740;ENST00000531535;ENST00000326192	T;T	0.39592	1.07;1.07	2.42	1.46	0.22682	.	0.000000	0.64402	U	0.000008	T	0.52517	0.1739	M	0.89658	3.05	0.09310	N	0.999995	D	0.61697	0.99	P	0.48270	0.572	T	0.52381	-0.8583	10	0.62326	D	0.03	.	8.2385	0.31640	0.0:0.0:0.7607:0.2393	.	90	C9JC66	.	C	90	ENSP00000396586:R90C;ENSP00000321549:R90C	ENSP00000321549:R90C	R	-	1	0	SLC22A24	62667560	0.085000	0.21516	0.003000	0.11579	0.137000	0.21094	1.910000	0.39927	0.352000	0.24053	0.491000	0.48974	CGC		0.557	SLC22A24-003	PUTATIVE	non_canonical_polymorphism|basic|appris_principal|exp_conf	protein_coding	protein_coding	OTTHUMT00000383747.1	NM_173586		10	16	0	0	0	1	0	10	16					A	62910984	G	A	62910984	3	1	435	1	0	0	0	0	1	0	0	0	14453	1087	38	1	1425	1	SLC22A24	11	62910984	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	142767	62910984	72095532	5204	26129											
SLC22A10	387775	broad.mit.edu	37	chr11	63065164	63065164	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caaaccctgcacgtggtggcGtctgtacctttctttgtctt	5	15	9	12	2	3	0	0	0	3	0	3	0	3	0	2	2	3	2	2	2	2	4	rs146046305	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:63065164G>A	ENST00000332793.6	+	4	797	c.795G>A	c.(793-795)gcG>gcA	p.A265A	SLC22A10_ENST00000526800.1_Intron|SLC22A10_ENST00000525620.1_3'UTR|SLC22A10_ENST00000535888.1_Silent_p.A55A|SLC22A10_ENST00000544661.1_Silent_p.A110A	NM_001039752.3	NP_001034841.3	Q63ZE4	S22AA_HUMAN	solute carrier family 22, member 10	265						integral component of membrane (GO:0016021)	transmembrane transporter activity (GO:0022857)			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28					Conjugated Estrogens(DB00286)|Probenecid(DB01032)|Salicylic acid(DB00936)	ACGTGGTGGCGTCTGTACCTT	0.443													G|||	12	0.00239617	8e-04	0.0029	5008	,	,		17426	0.001		0.005	False		,,,				2504	0.0031					ENST00000544661.1																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						c.(328-330)gcG>gcA		solute carrier family 22, member 10		G		2,3896		0,2,1947	167	156	160		795	-6	0	11	dbSNP_134	160	41,8221		1,39,4091	no	coding-synonymous	SLC22A10	NM_001039752.3		1,41,6038	AA,AG,GG		0.4962,0.0513,0.3536		265/542	63065164	43,12117	1949	4131	6080	SO:0001819	synonymous_variant	387775					integral to membrane	transmembrane transporter activity	g.chr11:63065164G>A	AP003420	CCDS41661.1	11q12.3	2013-05-22	2008-01-11		ENSG00000184999	ENSG00000184999		"Solute carriers"	18057	protein-coding gene	gene with protein product		607580	"solute carrier family 22 (organic anion/cation transporter), member 10"			11327718	Standard	NM_001039752		Approved	OAT5, hOAT5	uc009yor.3	Q63ZE4	OTTHUMG00000165197	ENST00000332793.6:c.795G>A	11.37:g.63065164G>A						SLC22A10_ENST00000332793.6_Silent_p.A265A|SLC22A10_ENST00000526800.1_Intron|SLC22A10_ENST00000525620.1_3'UTR|SLC22A10_ENST00000535888.1_Silent_p.A55A	p.A110A			Q63ZE4	S22AA_HUMAN			5	758	+			265					Q68CJ0	Silent	SNP	ENST00000332793.6	37	c.330G>A	CCDS41661.1																																																																																				0.443	SLC22A10-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382622.3	NM_001039752		40	55	0	0	0	1	0	40	55					A	63065164	G	A	63065164	2	1	435	1	0	0	0	0	0	0	0	1	14441	1132	40	1		1	SLC22A10	11	63065164	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	154180	63065164	71941352	5205	26130											
MARK2	2011	broad.mit.edu	37	chr11	63671554	63671554	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagaaatccatgtcggcctcCgtgcaccccaacaaggcctc	10	6	8	17	2	0	1	0	0	0	1	4	1	2	1	6	2	2	1	6	2	3	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:63671554C>T	ENST00000509502.2	+	15	1972	c.1509C>T	c.(1507-1509)tcC>tcT	p.S503S	MARK2_ENST00000413835.2_Intron|MARK2_ENST00000425897.2_Intron|MARK2_ENST00000315032.8_Silent_p.S537S|MARK2_ENST00000502399.3_Silent_p.S536S|MARK2_ENST00000402010.2_Silent_p.S537S|MARK2_ENST00000350490.7_Intron|MARK2_ENST00000508192.1_Intron|MARK2_ENST00000377809.4_Silent_p.S537S|MARK2_ENST00000377810.3_Intron|MARK2_ENST00000408948.3_Intron|MARK2_ENST00000361128.5_Intron|MARK2_ENST00000513765.2_Silent_p.S504S	NM_017490.3	NP_059672.2			MAP/microtubule affinity-regulating kinase 2											autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33						TGTCGGCCTCCGTGCACCCCA	0.687																																						ENST00000402010.2																			0				autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33						c.(1609-1611)tcC>tcT		MAP/microtubule affinity-regulating kinase 2							16	19	18					11																	63671554		1840	4074	5914	SO:0001819	synonymous_variant	2011				cell differentiation|establishment or maintenance of epithelial cell apical/basal polarity|intracellular protein kinase cascade|multicellular organismal development|response to oxidative stress	plasma membrane	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity	g.chr11:63671554C>T	BC008771	CCDS8051.1, CCDS41665.1, CCDS8051.2, CCDS53649.1, CCDS53650.1, CCDS53651.1	11q13.1	2013-06-27	2002-07-26	2002-08-01	ENSG00000072518	ENSG00000072518			3332	protein-coding gene	gene with protein product	"ELKL motif kinase 1", "serine/threonine kinase", "protein-serine/threonine kinase", "Ser/Thr protein kinase PAR-1B"	600526	"ELKL motif kinase"	EMK1		9730619, 10516437	Standard	NM_017490		Approved	PAR-1, Par1b, PAR-1B	uc001nxw.3	Q7KZI7	OTTHUMG00000160504	ENST00000509502.2:c.1509C>T	11.37:g.63671554C>T						MARK2_ENST00000315032.8_Silent_p.S537S|MARK2_ENST00000413835.2_Intron|MARK2_ENST00000377810.3_Intron|MARK2_ENST00000361128.5_Intron|MARK2_ENST00000377809.4_Silent_p.S537S|MARK2_ENST00000508192.1_Intron|MARK2_ENST00000502399.3_Silent_p.S536S|MARK2_ENST00000350490.7_Intron|MARK2_ENST00000513765.2_Silent_p.S504S|MARK2_ENST00000509502.2_Silent_p.S503S|MARK2_ENST00000425897.2_Intron|MARK2_ENST00000408948.3_Intron	p.S537S	NM_001039469.2	NP_001034558.2	Q7KZI7	MARK2_HUMAN			15	2190	+			537						Silent	SNP	ENST00000509502.2	37	c.1611C>T	CCDS41665.1																																																																																				0.687	MARK2-003	NOVEL	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000360862.2	NM_017490		3	4	0	0	0	1	0	3	4					T	63671554	C	T	63671554	2	4	435	1	0	0	0	0	0	0	0	1	9313	639	23	2		2	MARK2	11	63671554	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	606390	63671554	71334962	5206	26131											
FERMT3	83706	broad.mit.edu	37	chr11	63974967	63974967	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tggggagtcgcacatcggcgGggtgctcctgaagattgtgg	6	9	18	8	3	0	2	0	1	0	1	3	3	1	3	1	6	1	2	1	6	1	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:63974967G>A	ENST00000279227.5	+	2	226	c.131G>A	c.(130-132)gGg>gAg	p.G44E	FERMT3_ENST00000345728.5_Missense_Mutation_p.G44E	NM_178443.2	NP_848537.1	Q86UX7	URP2_HUMAN	fermitin family member 3	44					integrin activation (GO:0033622)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|platelet aggregation (GO:0070527)|regulation of cell-cell adhesion mediated by integrin (GO:0033632)|substrate adhesion-dependent cell spreading (GO:0034446)	cell junction (GO:0030054)|cell projection (GO:0042995)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|podosome (GO:0002102)	integrin binding (GO:0005178)			breast(1)|cervix(1)|endometrium(4)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	18						CACATCGGCGGGGTGCTCCTG	0.647																																						ENST00000279227.5																			0				breast(1)|cervix(1)|endometrium(4)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	18						c.(130-132)gGg>gAg		fermitin family member 3							46	51	49					11																	63974967		2201	4297	6498	SO:0001583	missense	83706				integrin activation|leukocyte cell-cell adhesion|platelet aggregation|regulation of cell-cell adhesion mediated by integrin	cell junction|cell projection|podosome	integrin binding	g.chr11:63974967G>A	L25343	CCDS8059.1, CCDS8060.1	11q13.1	2014-09-17	2010-06-24		ENSG00000149781	ENSG00000149781		"Fermitins", "Pleckstrin homology (PH) domain containing"	23151	protein-coding gene	gene with protein product	"kindlin-3"	607901	"fermitin family homolog 3 (Drosophila)"				Standard	NM_178443		Approved	URP2, KIND3, MIG2B, MGC10966, MIG-2, UNC112C	uc001nym.2	Q86UX7	OTTHUMG00000167790	ENST00000279227.5:c.131G>A	11.37:g.63974967G>A	ENSP00000279227:p.Gly44Glu					FERMT3_ENST00000345728.5_Missense_Mutation_p.G44E	p.G44E	NM_178443.2	NP_848537.1	Q86UX7	URP2_HUMAN			2	226	+			44					Q8IUA1|Q8N207|Q9BT48	Missense_Mutation	SNP	ENST00000279227.5	37	c.131G>A	CCDS8060.1	.	.	.	.	.	.	.	.	.	.	G	35	5.557350	0.96514	.	.	ENSG00000149781	ENST00000544997;ENST00000345728;ENST00000279227	T;T;T	0.54866	1.81;0.55;0.55	4.48	4.48	0.54585	.	0.000000	0.85682	D	0.000000	T	0.71550	0.3353	M	0.70595	2.14	0.80722	D	1	D;P	0.89917	1.0;0.771	D;P	0.91635	0.999;0.804	T	0.75619	-0.3255	10	0.87932	D	0	-38.9425	16.4362	0.83875	0.0:0.0:1.0:0.0	.	44;44	Q86UX7-2;Q86UX7	.;URP2_HUMAN	E	44	ENSP00000445778:G44E;ENSP00000339950:G44E;ENSP00000279227:G44E	ENSP00000279227:G44E	G	+	2	0	FERMT3	63731543	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	8.521000	0.90569	2.502000	0.84385	0.561000	0.74099	GGG		0.647	FERMT3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000396297.1	NM_031471		24	40	0	0	0	1	0	24	40					A	63974967	G	A	63974967	3	1	435	1	0	0	0	0	1	0	0	0	5819	1232	43	3	133	3	FERMT3	11	63974967	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	303413	63974967	71031549	5207	26132											
FERMT3	83706	broad.mit.edu	37	chr11	63990633	63990633	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgtttcagcaacatgcgccAgtggaatgtcaactgggaca	11	8	12	10	2	2	0	2	0	0	0	2	2	2	2	1	2	4	2	1	2	3	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:63990633A>G	ENST00000279227.5	+	14	1891	c.1796A>G	c.(1795-1797)cAg>cGg	p.Q599R	TRPT1_ENST00000540472.1_5'Flank|FERMT3_ENST00000345728.5_Missense_Mutation_p.Q595R	NM_178443.2	NP_848537.1	Q86UX7	URP2_HUMAN	fermitin family member 3	599					integrin activation (GO:0033622)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|platelet aggregation (GO:0070527)|regulation of cell-cell adhesion mediated by integrin (GO:0033632)|substrate adhesion-dependent cell spreading (GO:0034446)	cell junction (GO:0030054)|cell projection (GO:0042995)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|podosome (GO:0002102)	integrin binding (GO:0005178)			breast(1)|cervix(1)|endometrium(4)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	18						AACATGCGCCAGTGGAATGTC	0.622																																						ENST00000279227.5																			0				breast(1)|cervix(1)|endometrium(4)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	18						c.(1795-1797)cAg>cGg		fermitin family member 3							97	76	83					11																	63990633		2201	4297	6498	SO:0001583	missense	83706				integrin activation|leukocyte cell-cell adhesion|platelet aggregation|regulation of cell-cell adhesion mediated by integrin	cell junction|cell projection|podosome	integrin binding	g.chr11:63990633A>G	L25343	CCDS8059.1, CCDS8060.1	11q13.1	2014-09-17	2010-06-24		ENSG00000149781	ENSG00000149781		"Fermitins", "Pleckstrin homology (PH) domain containing"	23151	protein-coding gene	gene with protein product	"kindlin-3"	607901	"fermitin family homolog 3 (Drosophila)"				Standard	NM_178443		Approved	URP2, KIND3, MIG2B, MGC10966, MIG-2, UNC112C	uc001nym.2	Q86UX7	OTTHUMG00000167790	ENST00000279227.5:c.1796A>G	11.37:g.63990633A>G	ENSP00000279227:p.Gln599Arg					FERMT3_ENST00000345728.5_Missense_Mutation_p.Q595R	p.Q599R	NM_178443.2	NP_848537.1	Q86UX7	URP2_HUMAN			14	1891	+			599					Q8IUA1|Q8N207|Q9BT48	Missense_Mutation	SNP	ENST00000279227.5	37	c.1796A>G	CCDS8060.1	.	.	.	.	.	.	.	.	.	.	A	22.0	4.229142	0.79688	.	.	ENSG00000149781	ENST00000345728;ENST00000279227;ENST00000545896	T;T;T	0.73681	-0.77;-0.77;-0.77	5.09	5.09	0.68999	Pleckstrin homology-type (1);	0.000000	0.85682	D	0.000000	T	0.81192	0.4771	L	0.61387	1.9	0.80722	D	1	D;D	0.61080	0.989;0.981	D;D	0.72982	0.979;0.954	T	0.77456	-0.2581	10	0.07325	T	0.83	-33.1663	14.1441	0.65339	1.0:0.0:0.0:0.0	.	595;599	Q86UX7-2;Q86UX7	.;URP2_HUMAN	R	595;599;116	ENSP00000339950:Q595R;ENSP00000279227:Q599R;ENSP00000440209:Q116R	ENSP00000279227:Q599R	Q	+	2	0	FERMT3	63747209	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.910000	0.92685	2.049000	0.60858	0.459000	0.35465	CAG		0.622	FERMT3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000396297.1	NM_031471		19	23	0	0	0	1	0	19	23					G	63990633	A	G	63990633	3	3	435	1	0	0	0	0	1	0	0	0	5819	188	7	4	1846	4	FERMT3	11	63990633	Missense_Mutation	SNP	A	TCGA-XK-AAIW-01A-11D-A41K-08	15666	63990633	71015883	5208	26133											
ESRRA	2101	broad.mit.edu	37	chr11	64074903	64074903	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctgcctggtctgtggggaCgtggcctccggctaccacta	4	10	13	14	2	2	0	0	0	2	0	3	1	3	1	4	5	2	1	4	5	2	2	rs376539921		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:64074903C>T	ENST00000405666.1	+	2	486	c.252C>T	c.(250-252)gaC>gaT	p.D84D	ESRRA_ENST00000000442.6_Silent_p.D84D|RP11-783K16.10_ENST00000539086.1_RNA|ESRRA_ENST00000406310.1_Silent_p.D84D	NM_001282450.1	NP_001269379.1	P11474	ERR1_HUMAN	estrogen-related receptor alpha	84					cartilage development (GO:0051216)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell proliferation (GO:0042127)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoclast differentiation (GO:0045670)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	intercellular bridge (GO:0045171)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein domain specific binding (GO:0019904)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|large_intestine(4)|lung(8)	14						TCTGTGGGGACGTGGCCTCCG	0.667													C|||	1	0.000199681	8e-04	0	5008	,	,		17852	0		0	False		,,,				2504	0					ENST00000405666.1																			0				endometrium(1)|kidney(1)|large_intestine(4)|lung(8)	14						c.(250-252)gaC>gaT		estrogen-related receptor alpha		C		1,4107		0,1,2053	17	19	18		252	-8.6	0.8	11		18	1,8417		0,1,4208	no	coding-synonymous	ESRRA	NM_004451.3		0,2,6261	TT,TC,CC		0.0119,0.0243,0.016		84/424	64074903	2,12524	2054	4209	6263	SO:0001819	synonymous_variant	2101				positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	protein domain specific binding|sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding	g.chr11:64074903C>T	X51416, L38487	CCDS41667.1, CCDS60830.1	11q12	2013-01-16			ENSG00000173153	ENSG00000173153		"Nuclear hormone receptors"	3471	protein-coding gene	gene with protein product		601998		ESRL1		3267207	Standard	NM_004451		Approved	ERR1, ERRalpha, NR3B1, ERRa	uc001nzq.1	P11474	OTTHUMG00000150641	ENST00000405666.1:c.252C>T	11.37:g.64074903C>T						ESRRA_ENST00000406310.1_Silent_p.D84D|ESRRA_ENST00000000442.6_Silent_p.D84D	p.D84D			P11474	ERR1_HUMAN			2	486	+			84					Q14514	Silent	SNP	ENST00000405666.1	37	c.252C>T	CCDS41667.1																																																																																				0.667	ESRRA-003	KNOWN	alternative_5_UTR|NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319304.1	NM_004451		7	13	0	0	0	1	0	7	13					T	64074903	C	T	64074903	2	4	435	1	0	0	0	0	0	0	0	1	5260	535	19	1		1	ESRRA	11	64074903	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	84270	64074903	70931613	5209	26134											
CCDC88B	283234	broad.mit.edu	37	chr11	64120867	64120867	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caggaagaggagaaccggcaGctgctggctgaagttcaggc	11	5	16	9	1	1	3	1	1	0	2	1	5	1	4	1	5	3	5	1	5	3	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:64120867G>T	ENST00000356786.5	+	22	3776	c.3732G>T	c.(3730-3732)caG>caT	p.Q1244H	CCDC88B_ENST00000301897.4_5'UTR|CCDC88B_ENST00000359902.2_Missense_Mutation_p.Q396H|CCDC88B_ENST00000463837.1_3'UTR	NM_032251.5	NP_115627.6	A6NC98	CC88B_HUMAN	coiled-coil domain containing 88B	1244						membrane (GO:0016020)				endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						AGAACCGGCAGCTGCTGGCTG	0.662																																						ENST00000356786.5																			0				endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(3730-3732)caG>caT		coiled-coil domain containing 88B							24	31	28					11																	64120867		2201	4297	6498	SO:0001583	missense	283234				microtubule cytoskeleton organization	cytoplasm	microtubule binding	g.chr11:64120867G>T	AK090436	CCDS8072.2	11q13.1	2013-03-13	2007-05-31	2007-05-31	ENSG00000168071	ENSG00000168071			26757	protein-coding gene	gene with protein product	"brain leucine zipper protein", "GRP78-interacting protein induced by ER stress"	611205	"coiled-coil domain containing 88"	CCDC88		15882442, 21289099	Standard	NM_032251		Approved	FLJ37970, BRLZ, HkRP3, FLJ00354, GIPIE	uc001nzy.3	A6NC98	OTTHUMG00000045419	ENST00000356786.5:c.3732G>T	11.37:g.64120867G>T	ENSP00000349238:p.Gln1244His					CCDC88B_ENST00000463837.1_3'UTR|CCDC88B_ENST00000359902.2_Missense_Mutation_p.Q396H|CCDC88B_ENST00000301897.4_5'UTR	p.Q1244H	NM_032251.5	NP_115627.6	A6NC98	CC88B_HUMAN			22	3776	+			1244					A5D8Y5|B5MDM2|Q05BL2|Q6RUV3|Q8N1Q6|Q8NF44|Q9H0H1	Missense_Mutation	SNP	ENST00000356786.5	37	c.3732G>T	CCDS8072.2	.	.	.	.	.	.	.	.	.	.	N	0.977	-0.698413	0.03279	.	.	ENSG00000168071	ENST00000377638;ENST00000356786;ENST00000359902	T;T	0.58940	0.3;0.3	3.45	3.45	0.39498	.	.	.	.	.	T	0.38692	0.1050	N	0.01352	-0.895	0.80722	D	1	B;D;B;B	0.71674	0.285;0.998;0.119;0.285	B;D;B;B	0.64877	0.055;0.93;0.099;0.055	T	0.41734	-0.9492	9	0.02654	T	1	.	10.5684	0.45186	0.0:0.0:1.0:0.0	.	1244;1126;380;1244	B2RTU8;A6NC98-4;A6NC98-5;A6NC98	.;.;.;CC88B_HUMAN	H	1126;1244;396	ENSP00000349238:Q1244H;ENSP00000352974:Q396H	ENSP00000349238:Q1244H	Q	+	3	2	CCDC88B	63877443	1.000000	0.71417	1.000000	0.80357	0.929000	0.56500	2.524000	0.45589	1.915000	0.55452	0.407000	0.27541	CAG		0.662	CCDC88B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000104845.1	NM_032251		7	15	1	0	0.0293803	1	0.0295506	7	15					T	64120867	G	T	64120867	3	4	435	1	0	0	0	0	1	0	0	0	2864	962	34	5	3818	5	CCDC88B	11	64120867	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	45964	64120867	70885649	5210	26135											
CCDC88B	283234	broad.mit.edu	37	chr11	64121263	64121263	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	accaataccgcgtgctggagCctgtgcccctgccccggacc	6	6	11	18	3	0	0	0	0	0	0	0	2	0	2	8	2	5	1	8	2	2	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:64121263C>T	ENST00000356786.5	+	23	3954	c.3910C>T	c.(3910-3912)Cct>Tct	p.P1304S	CCDC88B_ENST00000301897.4_Silent_p.S22S|CCDC88B_ENST00000359902.2_Missense_Mutation_p.P456S|CCDC88B_ENST00000463837.1_3'UTR	NM_032251.5	NP_115627.6	A6NC98	CC88B_HUMAN	coiled-coil domain containing 88B	1304						membrane (GO:0016020)				endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						CGTGCTGGAGCCTGTGCCCCT	0.647																																						ENST00000356786.5																			0				endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(3910-3912)Cct>Tct		coiled-coil domain containing 88B							139	138	138					11																	64121263		2201	4297	6498	SO:0001583	missense	283234				microtubule cytoskeleton organization	cytoplasm	microtubule binding	g.chr11:64121263C>T	AK090436	CCDS8072.2	11q13.1	2013-03-13	2007-05-31	2007-05-31	ENSG00000168071	ENSG00000168071			26757	protein-coding gene	gene with protein product	"brain leucine zipper protein", "GRP78-interacting protein induced by ER stress"	611205	"coiled-coil domain containing 88"	CCDC88		15882442, 21289099	Standard	NM_032251		Approved	FLJ37970, BRLZ, HkRP3, FLJ00354, GIPIE	uc001nzy.3	A6NC98	OTTHUMG00000045419	ENST00000356786.5:c.3910C>T	11.37:g.64121263C>T	ENSP00000349238:p.Pro1304Ser					CCDC88B_ENST00000463837.1_3'UTR|CCDC88B_ENST00000359902.2_Missense_Mutation_p.P456S|CCDC88B_ENST00000301897.4_Silent_p.S22S	p.P1304S	NM_032251.5	NP_115627.6	A6NC98	CC88B_HUMAN			23	3954	+			1304					A5D8Y5|B5MDM2|Q05BL2|Q6RUV3|Q8N1Q6|Q8NF44|Q9H0H1	Missense_Mutation	SNP	ENST00000356786.5	37	c.3910C>T	CCDS8072.2	.	.	.	.	.	.	.	.	.	.	c	19.46	3.832274	0.71258	.	.	ENSG00000168071	ENST00000377638;ENST00000356786;ENST00000359902	T;T	0.56275	0.47;0.47	3.07	3.07	0.35406	.	.	.	.	.	T	0.65417	0.2689	M	0.62723	1.935	0.80722	D	1	D;D;D;D	0.89917	1.0;0.981;1.0;1.0	D;D;D;D	0.91635	0.997;0.969;0.999;0.997	T	0.64672	-0.6352	8	.	.	.	.	9.7591	0.40522	0.0:1.0:0.0:0.0	.	1304;1186;440;1304	B2RTU8;A6NC98-4;A6NC98-5;A6NC98	.;.;.;CC88B_HUMAN	S	1186;1304;456	ENSP00000349238:P1304S;ENSP00000352974:P456S	.	P	+	1	0	CCDC88B	63877839	1.000000	0.71417	0.997000	0.53966	0.919000	0.55068	4.795000	0.62489	1.698000	0.51180	0.462000	0.41574	CCT		0.647	CCDC88B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000104845.1	NM_032251		23	33	0	0	0	1	0	23	33					T	64121263	C	T	64121263	3	4	435	1	0	0	0	0	1	0	0	0	2864	739	26	3	4000	3	CCDC88B	11	64121263	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	396	64121263	70885253	5211	26136											
RPS6KA4	8986	broad.mit.edu	37	chr11	64132774	64132774	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tctgattcccttccctcaggGcctcgattgggtggctctgg	3	13	12	13	1	3	1	1	1	2	0	6	2	5	1	3	4	0	1	3	4	0	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:64132774G>A	ENST00000334205.4	+	9	973	c.908G>A	c.(907-909)gGc>gAc	p.G303D	RPS6KA4_ENST00000528057.1_Splice_Site_p.G303D|RPS6KA4_ENST00000294261.4_Splice_Site_p.G303D	NM_003942.2	NP_003933.1	O75676	KS6A4_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 4	303	AGC-kinase C-terminal.				axon guidance (GO:0007411)|histone H3-S10 phosphorylation (GO:0043987)|histone H3-S28 phosphorylation (GO:0043988)|histone phosphorylation (GO:0016572)|inflammatory response (GO:0006954)|interleukin-1-mediated signaling pathway (GO:0070498)|intracellular signal transduction (GO:0035556)|negative regulation of cytokine production (GO:0001818)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of histone acetylation (GO:0035066)|positive regulation of histone phosphorylation (GO:0033129)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|mitogen-activated protein kinase p38 binding (GO:0048273)|protein serine/threonine kinase activity (GO:0004674)|ribosomal protein S6 kinase activity (GO:0004711)			breast(1)|endometrium(3)|lung(7)|ovary(1)|prostate(1)	13						TTCCCTCAGGGCCTCGATTGG	0.592																																						ENST00000528057.1																			0				breast(1)|endometrium(3)|lung(7)|ovary(1)|prostate(1)	13						c.e9-1		ribosomal protein S6 kinase, 90kDa, polypeptide 4							59	61	61					11																	64132774		2201	4297	6498	SO:0001630	splice_region_variant	8986				axon guidance|histone phosphorylation|interleukin-1-mediated signaling pathway|intracellular protein kinase cascade|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	ATP binding|magnesium ion binding|mitogen-activated protein kinase p38 binding|ribosomal protein S6 kinase activity	g.chr11:64132774G>A	AJ010119	CCDS8073.1, CCDS73313.1	11q11-q13	2011-04-05	2002-08-29		ENSG00000162302	ENSG00000162302			10433	protein-coding gene	gene with protein product		603606	"ribosomal protein S6 kinase, 90kD, polypeptide 4"			9792677, 9687510	Standard	XM_005274379		Approved	RSK-B, MSK2	uc001oae.3	O75676	OTTHUMG00000046094	ENST00000334205.4:c.907-1G>A	11.37:g.64132774G>A						RPS6KA4_ENST00000294261.4_Splice_Site_p.G303_splice|RPS6KA4_ENST00000334205.4_Splice_Site_p.G303_splice	p.G303_splice	NM_001006944.1	NP_001006945.1	O75676	KS6A4_HUMAN			9	996	+			303			AGC-kinase C-terminal.		A8K7Z8|O75585|Q53ES8	Splice_Site	SNP	ENST00000334205.4	37	c.906_splice	CCDS8073.1	.	.	.	.	.	.	.	.	.	.	g	5.994	0.367293	0.11352	.	.	ENSG00000162302	ENST00000528057;ENST00000334205;ENST00000294261;ENST00000530504	T;T;T;T	0.54479	0.57;0.57;0.57;0.57	5.05	5.05	0.67936	AGC-kinase, C-terminal (2);Protein kinase-like domain (1);	0.110969	0.64402	D	0.000011	T	0.38799	0.1054	L	0.35854	1.095	0.39210	D	0.963301	B;B;B;B	0.24043	0.0;0.014;0.012;0.096	B;B;B;B	0.26693	0.001;0.007;0.022;0.072	T	0.24584	-1.0156	10	0.11794	T	0.64	.	9.5119	0.39082	0.0972:0.0:0.9028:0.0	.	303;303;303;303	G3XAA9;E9PJN1;O75676;O75676-2	.;.;KS6A4_HUMAN;.	D	303;303;303;287	ENSP00000435580:G303D;ENSP00000333896:G303D;ENSP00000294261:G303D;ENSP00000432945:G287D	ENSP00000294261:G303D	G	+	2	0	RPS6KA4	63889350	0.998000	0.40836	0.994000	0.49952	0.038000	0.13279	2.699000	0.47077	2.363000	0.80096	0.471000	0.43371	GGC		0.592	RPS6KA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106246.2	NM_003942	Missense_Mutation	18	16	0	0	0	1	0	18	16					A	64132774	G	A	64132774	5	1	435	1	0	0	0	0	0	0	1	0	13653	1217	42	3	942	3	RPS6KA4	11	64132774	Splice_Site	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	11511	64132774	70873742	5212	26137											
SLC22A12	116085	broad.mit.edu	37	chr11	64359171	64359171	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggccgccgtgcccagccaccGctgctgggcacccctcctgg	3	5	13	20	3	0	0	0	0	0	0	1	0	1	0	8	3	3	3	8	3	0	0	rs200499531		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:64359171G>A	ENST00000377574.1	+	1	890	c.143G>A	c.(142-144)cGc>cAc	p.R48H	SLC22A12_ENST00000473690.1_De_novo_Start_OutOfFrame|SLC22A12_ENST00000377572.1_Missense_Mutation_p.R48H|SLC22A12_ENST00000336464.7_Missense_Mutation_p.R48H|SLC22A12_ENST00000377567.2_Missense_Mutation_p.R48H	NM_144585.2	NP_653186.2	Q96S37	S22AC_HUMAN	solute carrier family 22 (organic anion/urate transporter), member 12	48					cellular homeostasis (GO:0019725)|response to drug (GO:0042493)|transmembrane transport (GO:0055085)|urate metabolic process (GO:0046415)|urate transport (GO:0015747)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	PDZ domain binding (GO:0030165)|urate transmembrane transporter activity (GO:0015143)	p.S41fs*22(1)		central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27					Losartan(DB00678)|Probenecid(DB01032)	CCCAGCCACCGCTGCTGGGCA	0.637																																						ENST00000473690.1																			1	Deletion - Frameshift(1)	p.S41fs*22(1)	ovary(1)	central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27								solute carrier family 22 (organic anion/urate transporter), member 12							39	41	40					11																	64359171		2200	4297	6497	SO:0001583	missense	116085				cellular homeostasis|response to drug|urate metabolic process	apical plasma membrane|brush border membrane|integral to membrane	PDZ domain binding|urate transmembrane transporter activity	g.chr11:64359171G>A	AB071863	CCDS8075.1, CCDS60835.1, CCDS60836.1	11q13.1	2013-05-22	2008-01-11		ENSG00000197891	ENSG00000197891		"Solute carriers"	17989	protein-coding gene	gene with protein product		607096	"solute carrier family 22 (organic anion/cation transporter), member 12"			12024214	Standard	NM_144585		Approved	OAT4L, RST, URAT1	uc009yps.2	Q96S37	OTTHUMG00000045213	ENST00000377574.1:c.143G>A	11.37:g.64359171G>A	ENSP00000366797:p.Arg48His					SLC22A12_ENST00000336464.7_Missense_Mutation_p.R48H|SLC22A12_ENST00000377567.2_Missense_Mutation_p.R48H|SLC22A12_ENST00000377574.1_Missense_Mutation_p.R48H|SLC22A12_ENST00000377572.1_Missense_Mutation_p.R48H		NM_153378.1	NP_700357.1	Q96S37	S22AC_HUMAN			0	361	+								B7WPG1|G3XAN7|Q19PF7|Q19PF8|Q19PF9|Q19PG0|Q6UXW3|Q96DT2	Translation_Start_Site	SNP	ENST00000377574.1	37		CCDS8075.1	.	.	.	.	.	.	.	.	.	.	G	17.52	3.409366	0.62399	.	.	ENSG00000197891	ENST00000377567;ENST00000377574;ENST00000377572;ENST00000336464	T;T;T;T	0.54479	0.57;0.57;0.57;0.57	4.31	4.31	0.51392	.	0.212093	0.40728	N	0.001024	T	0.52677	0.1749	N	0.21508	0.67	0.23661	N	0.997176	D;D;D;D	0.76494	0.992;0.999;0.997;0.999	P;P;P;P	0.62813	0.557;0.766;0.907;0.766	T	0.45249	-0.9274	10	0.13853	T	0.58	.	14.28	0.66205	0.0:0.0:1.0:0.0	.	48;48;48;48	B5ME56;B3KV05;Q96S37-2;Q96S37	.;.;.;S22AC_HUMAN	H	48	ENSP00000366790:R48H;ENSP00000366797:R48H;ENSP00000366795:R48H;ENSP00000336836:R48H	ENSP00000336836:R48H	R	+	2	0	SLC22A12	64115747	0.998000	0.40836	1.000000	0.80357	0.579000	0.36224	0.934000	0.28910	1.941000	0.56285	0.484000	0.47621	CGC		0.637	SLC22A12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000104966.2	NM_144585		13	24	0	0	0	1	0	13	24					A	64359171	G	A	64359171	3	1	435	1	0	0	0	0	1	0	0	0	14443	1087	38	1	145	1	SLC22A12	11	64359171	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	226397	64359171	70647345	5213	26138											
SLC22A12	116085	broad.mit.edu	37	chr11	64368360	64368360	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggccgcactgcttctgccCgagacccagagcttgccgct	5	8	11	17	3	1	2	0	0	1	2	1	3	1	2	4	1	4	4	4	1	0	2	rs145764379		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:64368360C>T	ENST00000377574.1	+	9	2295	c.1548C>T	c.(1546-1548)ccC>ccT	p.P516P	SLC22A12_ENST00000473690.1_Silent_p.P295P|SLC22A12_ENST00000377572.1_Silent_p.P408P|SLC22A12_ENST00000336464.7_Silent_p.P482P|SLC22A12_ENST00000377567.2_Silent_p.P408P	NM_144585.2	NP_653186.2	Q96S37	S22AC_HUMAN	solute carrier family 22 (organic anion/urate transporter), member 12	516					cellular homeostasis (GO:0019725)|response to drug (GO:0042493)|transmembrane transport (GO:0055085)|urate metabolic process (GO:0046415)|urate transport (GO:0015747)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	PDZ domain binding (GO:0030165)|urate transmembrane transporter activity (GO:0015143)			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27					Losartan(DB00678)|Probenecid(DB01032)	TGCTTCTGCCCGAGACCCAGA	0.667																																						ENST00000377574.1																			0				central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27						c.(1546-1548)ccC>ccT		solute carrier family 22 (organic anion/urate transporter), member 12		C	,	0,4402		0,0,2201	88	90	89		1548,885	-2.8	0.9	11	dbSNP_134	89	2,8592	2.2+/-6.3	0,2,4295	no	coding-synonymous,coding-synonymous	SLC22A12	NM_144585.2,NM_153378.1	,	0,2,6496	TT,TC,CC		0.0233,0.0,0.0154	,	516/554,295/333	64368360	2,12994	2201	4297	6498	SO:0001819	synonymous_variant	116085				cellular homeostasis|response to drug|urate metabolic process	apical plasma membrane|brush border membrane|integral to membrane	PDZ domain binding|urate transmembrane transporter activity	g.chr11:64368360C>T	AB071863	CCDS8075.1, CCDS60835.1, CCDS60836.1	11q13.1	2013-05-22	2008-01-11		ENSG00000197891	ENSG00000197891		"Solute carriers"	17989	protein-coding gene	gene with protein product		607096	"solute carrier family 22 (organic anion/cation transporter), member 12"			12024214	Standard	NM_144585		Approved	OAT4L, RST, URAT1	uc009yps.2	Q96S37	OTTHUMG00000045213	ENST00000377574.1:c.1548C>T	11.37:g.64368360C>T						SLC22A12_ENST00000336464.7_Silent_p.P482P|SLC22A12_ENST00000377567.2_Silent_p.P408P|SLC22A12_ENST00000473690.1_Silent_p.P295P|SLC22A12_ENST00000377572.1_Silent_p.P408P	p.P516P	NM_144585.2	NP_653186.2	Q96S37	S22AC_HUMAN			9	2295	+			516					B7WPG1|G3XAN7|Q19PF7|Q19PF8|Q19PF9|Q19PG0|Q6UXW3|Q96DT2	Silent	SNP	ENST00000377574.1	37	c.1548C>T	CCDS8075.1																																																																																				0.667	SLC22A12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000104966.2	NM_144585		25	59	0	0	0	1	0	25	59					T	64368360	C	T	64368360	2	4	435	1	0	0	0	0	0	0	0	1	14443	639	23	2		2	SLC22A12	11	64368360	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	9189	64368360	70638156	5214	26139											
NRXN2	9379	broad.mit.edu	37	chr11	64410041	64410041	+	Intron	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcgggtgaggaagggcatgcGgttgatggcgatgggcacgg	7	6	22	6	4	0	2	0	2	0	0	0	4	0	3	0	7	1	3	0	7	1	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:64410041G>A	ENST00000377551.1	-	16	3615				NRXN2_ENST00000409571.1_Intron|NRXN2_ENST00000301894.2_Missense_Mutation_p.R79C|NRXN2_ENST00000265459.6_Intron|NRXN2_ENST00000377559.3_Intron			Q9P2S2	NRX2A_HUMAN	neurexin 2						adult behavior (GO:0030534)|gephyrin clustering (GO:0097116)|neuroligin clustering (GO:0097118)|neuron cell-cell adhesion (GO:0007158)|neurotransmitter secretion (GO:0007269)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	integral component of membrane (GO:0016021)	calcium channel regulator activity (GO:0005246)|cell adhesion molecule binding (GO:0050839)|metal ion binding (GO:0046872)|neuroligin family protein binding (GO:0097109)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	71						AAGGGCATGCGGTTGATGGCG	0.726																																						ENST00000301894.2																			0				breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	71						c.(235-237)Cgc>Tgc		neurexin 2							47	37	40					11																	64410041		2201	4296	6497	SO:0001627	intron_variant	9379				cell adhesion	integral to membrane	metal ion binding	g.chr11:64410041G>A		CCDS8077.1, CCDS31597.1, CCDS8078.1	11q13	2008-07-18			ENSG00000110076	ENSG00000110076			8009	protein-coding gene	gene with protein product	"neurexin II"	600566				1621094	Standard	NM_015080		Approved		uc021qkw.1	P58401	OTTHUMG00000045214	ENST00000377551.1:c.3403+5649C>T	11.37:g.64410041G>A						NRXN2_ENST00000409571.1_Intron|NRXN2_ENST00000377551.1_Intron|NRXN2_ENST00000377559.3_Intron|NRXN2_ENST00000265459.6_Intron	p.R79C	NM_138734.2	NP_620063.1	Q9P2S2	NRX2A_HUMAN			1	746	-			0			Laminin G-like 1.		A7E2C1|Q9Y2D6	Missense_Mutation	SNP	ENST00000377551.1	37	c.235C>T	CCDS8077.1	.	.	.	.	.	.	.	.	.	.	g	14.45	2.539925	0.45176	.	.	ENSG00000110076	ENST00000301894;ENST00000423049	T;T	0.60920	0.15;0.67	1.13	1.13	0.20643	.	.	.	.	.	T	0.61664	0.2365	L	0.55990	1.75	0.80722	D	1	D	0.89917	1.0	P	0.61592	0.891	T	0.62388	-0.6865	9	0.87932	D	0	.	4.4251	0.11498	0.0:0.0:0.6155:0.3845	.	79	P58401	NRX2B_HUMAN	C	79;40	ENSP00000301894:R79C;ENSP00000407374:R40C	ENSP00000301894:R79C	R	-	1	0	NRXN2	64166617	1.000000	0.71417	1.000000	0.80357	0.837000	0.47467	1.635000	0.37134	0.936000	0.37367	0.176000	0.17051	CGC		0.726	NRXN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000104967.3	NM_015080		6	12	0	0	0	1	0	6	12					A	64410041	G	A	64410041	1	1	435	0	1	0	0	0	0	0	0	0	10666	1116	39	2		2	NRXN2	11	64410041	Intron	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	41681	64410041	70596475	5215	26140											
RASGRP2	10235	broad.mit.edu	37	chr11	64504445	64504445	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agcccacacaggctgccagcCgacgccggtagttgccatag	9	5	12	15	3	0	0	0	0	0	0	0	1	0	0	5	2	4	3	5	2	2	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:64504445C>T	ENST00000354024.3	-	9	1127	c.875G>A	c.(874-876)cGg>cAg	p.R292Q	RASGRP2_ENST00000377494.1_Missense_Mutation_p.R292Q|RASGRP2_ENST00000377497.3_Missense_Mutation_p.R292Q|RASGRP2_ENST00000394432.3_Missense_Mutation_p.R292Q	NM_153819.1	NP_722541.1	Q7LDG7	GRP2_HUMAN	RAS guanyl releasing protein 2 (calcium and DAG-regulated)	292	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				blood coagulation (GO:0007596)|cellular response to calcium ion (GO:0071277)|platelet activation (GO:0030168)|positive regulation of Rap GTPase activity (GO:0032854)|Ras protein signal transduction (GO:0007265)|regulation of cell growth (GO:0001558)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cytosol (GO:0005829)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)	calcium ion binding (GO:0005509)|diacylglycerol binding (GO:0019992)|guanyl-nucleotide exchange factor activity (GO:0005085)|lipid binding (GO:0008289)			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						GGCTGCCAGCCGACGCCGGTA	0.632																																						ENST00000377494.1																			0				breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						c.(874-876)cGg>cAg		RAS guanyl releasing protein 2 (calcium and DAG-regulated)							36	37	37					11																	64504445		2201	4297	6498	SO:0001583	missense	10235				platelet activation|Ras protein signal transduction|regulation of cell growth|regulation of small GTPase mediated signal transduction	cell junction|cytosol|ruffle membrane|synapse|synaptosome	calcium ion binding|diacylglycerol binding|guanyl-nucleotide exchange factor activity	g.chr11:64504445C>T	U78170	CCDS31598.1	11q13	2014-09-17			ENSG00000068831	ENSG00000068831		"EF-hand domain containing"	9879	protein-coding gene	gene with protein product		605577				9789079	Standard	NM_001098670		Approved	CALDAG-GEFI	uc009ypv.3	Q7LDG7	OTTHUMG00000045420	ENST00000354024.3:c.875G>A	11.37:g.64504445C>T	ENSP00000338864:p.Arg292Gln					RASGRP2_ENST00000394432.3_Missense_Mutation_p.R292Q|RASGRP2_ENST00000354024.3_Missense_Mutation_p.R292Q|RASGRP2_ENST00000377497.3_Missense_Mutation_p.R292Q	p.R292Q			Q7LDG7	GRP2_HUMAN			8	1797	-			292			Ras-GEF.		A6NDC7|O00538|Q9UL65	Missense_Mutation	SNP	ENST00000354024.3	37	c.875G>A	CCDS31598.1	.	.	.	.	.	.	.	.	.	.	C	19.88	3.909793	0.72983	.	.	ENSG00000068831	ENST00000377494;ENST00000394432;ENST00000377497;ENST00000354024	T;T;T;T	0.31247	1.5;1.5;1.5;1.5	5.12	4.21	0.49690	Guanine-nucleotide dissociation stimulator CDC25 (4);Ras guanine nucleotide exchange factor, domain (1);	0.000000	0.85682	D	0.000000	T	0.33265	0.0857	L	0.53561	1.675	0.80722	D	1	B;B	0.31413	0.322;0.322	B;B	0.38842	0.19;0.283	T	0.09292	-1.0681	10	0.33940	T	0.23	-8.6153	11.7021	0.51577	0.0:0.9127:0.0:0.0873	.	292;292	Q7LDG7;A6NDC7	GRP2_HUMAN;.	Q	292	ENSP00000366714:R292Q;ENSP00000377953:R292Q;ENSP00000366717:R292Q;ENSP00000338864:R292Q	ENSP00000338864:R292Q	R	-	2	0	RASGRP2	64261021	0.000000	0.05858	0.998000	0.56505	0.816000	0.46133	0.446000	0.21694	1.301000	0.44836	-0.245000	0.11935	CGG		0.632	RASGRP2-002	NOVEL	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000142062.1	NM_153819		11	14	0	0	0	1	0	11	14					T	64504445	C	T	64504445	3	4	435	1	0	0	0	0	1	0	0	0	13075	652	23	2	986	2	RASGRP2	11	64504445	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	94404	64504445	70502071	5216	26141											
PYGM	5837	broad.mit.edu	37	chr11	64519438	64519438	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaggcagttgaggagctgtcGtttatattcgtgaatccgct	8	13	13	7	3	0	2	0	2	0	0	3	4	1	3	1	2	1	5	1	2	3	5	rs119103255		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:64519438G>A	ENST00000164139.3	-	14	2124	c.1726C>T	c.(1726-1728)Cga>Tga	p.R576*	PYGM_ENST00000377432.3_Nonsense_Mutation_p.R488*|PYGM_ENST00000462303.1_5'UTR	NM_005609.2	NP_005600.1	P11217	PYGM_HUMAN	phosphorylase, glycogen, muscle	576					carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|glycogen metabolic process (GO:0005977)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	glycogen phosphorylase activity (GO:0008184)|nucleotide binding (GO:0000166)|pyridoxal phosphate binding (GO:0030170)			cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						AGGAGCTGTCGTTTATATTCG	0.522																																						ENST00000164139.3																			0				cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38	GRCh37	CM981688	PYGM	M	rs119103255	c.(1726-1728)Cga>Tga		phosphorylase, glycogen, muscle	Pyridoxal Phosphate(DB00114)						209	176	187					11																	64519438		2201	4297	6498	SO:0001587	stop_gained	5837				glucose metabolic process|glycogen catabolic process	cytosol	glycogen phosphorylase activity|protein binding	g.chr11:64519438G>A		CCDS8079.1, CCDS53659.1	11q12-q13.2	2013-03-01	2008-07-31		ENSG00000068976	ENSG00000068976	2.4.1.1	"Glycogen phosphorylases"	9726	protein-coding gene	gene with protein product	"McArdle syndrome", "glycogen storage disease type V", "glycogen phosphorylase, muscle form"	608455	"phosphorylase, glycogen; muscle"				Standard	NM_005609		Approved		uc001oax.4	P11217	OTTHUMG00000066835	ENST00000164139.3:c.1726C>T	11.37:g.64519438G>A	ENSP00000164139:p.Arg576*					PYGM_ENST00000462303.1_5'UTR|PYGM_ENST00000377432.3_Nonsense_Mutation_p.R488*	p.R576*	NM_005609.2	NP_005600.1	P11217	PYGM_HUMAN			14	2124	-			576					A0AVK1|A6NDY6	Nonsense_Mutation	SNP	ENST00000164139.3	37	c.1726C>T	CCDS8079.1	.	.	.	.	.	.	.	.	.	.	G	43	10.003539	0.99315	.	.	ENSG00000068976	ENST00000377432;ENST00000164139;ENST00000540450	.	.	.	5.71	5.71	0.89125	.	0.000000	0.53938	D	0.000045	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-18.3338	12.3182	0.54969	0.0:0.0:0.8311:0.1689	.	.	.	.	X	488;576;557	.	ENSP00000164139:R576X	R	-	1	2	PYGM	64276014	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	3.323000	0.52014	2.698000	0.92095	0.561000	0.74099	CGA		0.522	PYGM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143254.2	NM_005609		15	34	0	0	0	1	0	15	34					A	64519438	G	A	64519438	4	1	435	1	0	0	0	0	0	1	0	0	12862	1153	40	1	830	1	PYGM	11	64519438	Nonsense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	14993	64519438	70487078	5217	26142											
MAP4K2	5871	broad.mit.edu	37	chr11	64569094	64569094	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgaggagaaggttggctccCtgtgggaatggaggagagac	10	7	19	5	0	0	3	0	1	0	2	1	8	1	6	1	6	0	2	1	6	2	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:64569094C>A	ENST00000294066.2	-	7	506		c.e7-1		MAP4K2_ENST00000377350.3_Splice_Site|MEN1_ENST00000478548.1_5'Flank|MAP4K2_ENST00000468062.1_Intron	NM_004579.3	NP_004570.2	Q12851	M4K2_HUMAN	mitogen-activated protein kinase kinase kinase kinase 2						activation of JUN kinase activity (GO:0007257)|immune response (GO:0006955)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|JNK cascade (GO:0007254)|positive regulation of JNK cascade (GO:0046330)|protein phosphorylation (GO:0006468)|vesicle targeting (GO:0006903)	Golgi membrane (GO:0000139)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|mitogen-activated protein kinase kinase kinase binding (GO:0031435)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			cervix(1)|lung(3)|ovary(1)|pancreas(1)|urinary_tract(2)	8						GGTTGGCTCCCTGTGGGAATG	0.627																																						ENST00000294066.2																			0				cervix(1)|lung(3)|ovary(1)|pancreas(1)|urinary_tract(2)	8						c.e7-1		mitogen-activated protein kinase kinase kinase kinase 2							128	121	123					11																	64569094		2201	4297	6498	SO:0001630	splice_region_variant	5871				activation of JUN kinase activity|immune response|positive regulation of JNK cascade|vesicle targeting	basolateral plasma membrane|Golgi membrane|soluble fraction	ATP binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chr11:64569094C>A	BC047865	CCDS8082.1	11q13.1	2011-06-09			ENSG00000168067	ENSG00000168067		"Mitogen-activated protein kinase cascade / Kinase kinase kinase kinases"	6864	protein-coding gene	gene with protein product		603166		RAB8IP		7515885	Standard	NM_004579		Approved	GCK, BL44	uc001obh.3	Q12851	OTTHUMG00000045328	ENST00000294066.2:c.415-1G>T	11.37:g.64569094C>A						MAP4K2_ENST00000468062.1_Intron|MAP4K2_ENST00000377350.3_Splice_Site		NM_004579.3	NP_004570.2	Q12851	M4K2_HUMAN			7	506	-								Q86VU3	Splice_Site	SNP	ENST00000294066.2	37		CCDS8082.1	.	.	.	.	.	.	.	.	.	.	C	18.79	3.699170	0.68501	.	.	ENSG00000168067	ENST00000294066;ENST00000377350;ENST00000439069	.	.	.	4.25	4.25	0.50352	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.6386	0.68706	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	MAP4K2	64325670	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	5.185000	0.65076	2.388000	0.81334	0.551000	0.68910	.		0.627	MAP4K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000105239.1	NM_004579	Intron	19	25	1	0	1.01871e-10	1	1.09092e-10	19	25					A	64569094	C	A	64569094	5	1	435	1	0	0	0	0	0	0	1	0	9260	695	24	5	2152	5	MAP4K2	11	64569094	Splice_Site	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	49656	64569094	70437422	5218	26143											
MEN1	4221	broad.mit.edu	37	chr11	64572519	64572519	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccctcacctgtccctcaaaaCggcctagggactgcacaaga	11	6	8	16	1	2	1	2	0	0	1	3	2	3	2	4	2	2	1	4	2	4	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:64572519C>T	ENST00000337652.1	-	9	1855	c.1352G>A	c.(1351-1353)cGt>cAt	p.R451H	MEN1_ENST00000315422.4_Missense_Mutation_p.R446H|MEN1_ENST00000377316.2_Intron|MAP4K2_ENST00000377350.3_5'Flank|MEN1_ENST00000394376.1_Missense_Mutation_p.R451H|MEN1_ENST00000478548.1_5'UTR|MAP4K2_ENST00000468062.1_5'Flank|MEN1_ENST00000443283.1_Missense_Mutation_p.R451H|MAP4K2_ENST00000294066.2_5'Flank|MEN1_ENST00000394374.2_Missense_Mutation_p.R451H|MEN1_ENST00000377321.1_Missense_Mutation_p.R411H|MEN1_ENST00000377313.1_Missense_Mutation_p.R451H|MEN1_ENST00000377326.3_Missense_Mutation_p.R446H|MEN1_ENST00000312049.6_Missense_Mutation_p.R446H	NM_130803.2	NP_570715	O00255	MEN1_HUMAN	multiple endocrine neoplasia I	451					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|chromatin remodeling (GO:0006338)|DNA repair (GO:0006281)|embryonic skeletal system morphogenesis (GO:0048704)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|histone lysine methylation (GO:0034968)|leukocyte homeostasis (GO:0001776)|MAPK cascade (GO:0000165)|maternal process involved in female pregnancy (GO:0060135)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of JNK cascade (GO:0046329)|negative regulation of organ growth (GO:0046621)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of telomerase activity (GO:0051974)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|osteoblast development (GO:0002076)|osteoblast fate commitment (GO:0002051)|palate development (GO:0060021)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell division (GO:0051781)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of histone methylation (GO:0031062)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein binding (GO:0032092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of activin receptor signaling pathway (GO:0032925)|response to gamma radiation (GO:0010332)|response to UV (GO:0009411)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	chromatin (GO:0000785)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|histone methyltransferase complex (GO:0035097)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|four-way junction DNA binding (GO:0000400)|protein binding, bridging (GO:0030674)|protein N-terminus binding (GO:0047485)|R-SMAD binding (GO:0070412)|sequence-specific DNA binding (GO:0043565)|transcription regulatory region DNA binding (GO:0044212)|Y-form DNA binding (GO:0000403)			NS(7)|adrenal_gland(5)|breast(2)|central_nervous_system(5)|endometrium(1)|gastrointestinal_tract_(site_indeterminate)(15)|large_intestine(2)|lung(21)|ovary(1)|pancreas(64)|parathyroid(181)|pituitary(7)|prostate(4)|retroperitoneum(1)|skin(1)|small_intestine(13)|soft_tissue(4)|stomach(1)|thymus(2)	337						TCCCTCAAAACGGCCTAGGGA	0.612			"D, Mis, N, F, S"		"parathyroid tumors, Pancreatic neuroendocrine tumors"	"parathyroid adenoma, pituitary adenoma, pancreatic islet cell, carcinoid"			Multiple Endocrine Neoplasia, type 1;Hyperparathyroidism, Familial Isolated																												Esophageal Squamous(1;83 158 15500 18603 18803 29295)	ENST00000337652.1			yes	Rec	yes	Multiple Endocrine Neoplasia Type 1	11	11q13	4221	"D, Mis, N, F, S"	multiple endocrine neoplasia type 1 gene			E		"parathyroid adenoma, pituitary adenoma, pancreatic islet cell, carcinoid"	"parathyroid tumors, Pancreatic neuroendocrine tumors"		0				NS(7)|adrenal_gland(5)|breast(2)|central_nervous_system(5)|endometrium(1)|gastrointestinal_tract_(site_indeterminate)(15)|large_intestine(2)|lung(21)|ovary(1)|pancreas(64)|parathyroid(181)|pituitary(7)|prostate(4)|retroperitoneum(1)|skin(1)|small_intestine(13)|soft_tissue(4)|stomach(1)|thymus(2)	337						c.(1351-1353)cGt>cAt		multiple endocrine neoplasia I							77	68	71					11																	64572519		2201	4297	6498	SO:0001583	missense	0	Multiple Endocrine Neoplasia, type 1;Hyperparathyroidism, Familial Isolated	Familial Cancer Database	MEN1, Wermer disease;FIHP, FIHPT, HRPT1, Familial Isolated Primary Hyperparathyroidism	DNA repair|histone lysine methylation|MAPKKK cascade|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|negative regulation of JNK cascade|negative regulation of osteoblast differentiation|negative regulation of protein phosphorylation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of telomerase activity|negative regulation of transcription from RNA polymerase II promoter|osteoblast development|positive regulation of protein binding|positive regulation of transforming growth factor beta receptor signaling pathway|response to gamma radiation|response to UV|transcription, DNA-dependent	chromatin|cleavage furrow|cytosol|histone methyltransferase complex|nuclear matrix|soluble fraction	double-stranded DNA binding|four-way junction DNA binding|protein binding, bridging|protein N-terminus binding|R-SMAD binding|transcription regulatory region DNA binding|Y-form DNA binding	g.chr11:64572519C>T	U93236	CCDS8083.1, CCDS31600.1	11q13	2014-09-17			ENSG00000133895	ENSG00000133895			7010	protein-coding gene	gene with protein product	"menin"	613733					Standard	NM_130799		Approved		uc001obn.3	O00255	OTTHUMG00000045366	ENST00000337652.1:c.1352G>A	11.37:g.64572519C>T	ENSP00000337088:p.Arg451His					MEN1_ENST00000394374.2_Missense_Mutation_p.R451H|MEN1_ENST00000443283.1_Missense_Mutation_p.R451H|MEN1_ENST00000394376.1_Missense_Mutation_p.R451H|MEN1_ENST00000377326.3_Missense_Mutation_p.R446H|MEN1_ENST00000377313.1_Missense_Mutation_p.R451H|MEN1_ENST00000377321.1_Missense_Mutation_p.R411H|MEN1_ENST00000315422.4_Missense_Mutation_p.R446H|MEN1_ENST00000312049.6_Missense_Mutation_p.R446H|MEN1_ENST00000478548.1_5'UTR|MEN1_ENST00000377316.2_Intron	p.R451H	NM_130803.2	NP_570715.1	O00255	MEN1_HUMAN			9	1855	-			451					A5HBC6|A5HBC7|A5HBC8|A5HBC9|A5HBD0|A5HBD1|A5HBD2|O00632|Q9BUF0|Q9BUK2	Missense_Mutation	SNP	ENST00000337652.1	37	c.1352G>A	CCDS8083.1	.	.	.	.	.	.	.	.	.	.	C	25.7	4.666682	0.88251	.	.	ENSG00000133895	ENST00000377321;ENST00000377326;ENST00000312049;ENST00000315422;ENST00000337652;ENST00000394376;ENST00000394374;ENST00000443283;ENST00000377313	D;D;D;D;D;D;D;D;D	0.99494	-6.01;-6.01;-6.01;-6.01;-6.01;-6.01;-6.01;-6.01;-6.01	4.01	4.01	0.46588	.	0.000000	0.85682	D	0.000000	D	0.99146	0.9705	L	0.47716	1.5	0.58432	D	0.999997	D;D;D	0.76494	0.999;0.998;0.999	P;D;D	0.78314	0.902;0.991;0.941	D	0.98696	1.0698	10	0.87932	D	0	-11.4141	14.0916	0.64995	0.0:1.0:0.0:0.0	.	446;411;451	O00255-2;O00255-3;O00255	.;.;MEN1_HUMAN	H	411;446;446;446;451;451;451;451;451	ENSP00000366538:R411H;ENSP00000366543:R446H;ENSP00000308975:R446H;ENSP00000323747:R446H;ENSP00000337088:R451H;ENSP00000377901:R451H;ENSP00000377899:R451H;ENSP00000396940:R451H;ENSP00000366530:R451H	ENSP00000308975:R446H	R	-	2	0	MEN1	64329095	1.000000	0.71417	0.961000	0.40146	0.805000	0.45488	6.726000	0.74758	2.257000	0.74773	0.456000	0.33151	CGT		0.612	MEN1-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000143881.1			10	31	0	0	0	1	0	10	31					T	64572519	C	T	64572519	3	4	435	1	0	0	0	0	1	0	0	0	9472	536	19	1	503	1	MEN1	11	64572519	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	3425	64572519	70433997	5219	26144											
MEN1	4221	broad.mit.edu	37	chr11	64575422	64575422	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcctcgttgcccttgccgtGccaggtgacctcagctgtct	3	12	11	15	2	2	1	1	1	1	0	4	1	3	1	5	1	4	2	5	1	0	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:64575422G>A	ENST00000337652.1	-	3	1113	c.610C>T	c.(610-612)Cac>Tac	p.H204Y	MEN1_ENST00000315422.4_Missense_Mutation_p.H199Y|MEN1_ENST00000377316.2_Missense_Mutation_p.H199Y|MEN1_ENST00000394376.1_Missense_Mutation_p.H204Y|MEN1_ENST00000478548.1_5'Flank|MEN1_ENST00000443283.1_Missense_Mutation_p.H204Y|MEN1_ENST00000394374.2_Missense_Mutation_p.H204Y|MEN1_ENST00000377321.1_Intron|MEN1_ENST00000377313.1_Missense_Mutation_p.H204Y|MEN1_ENST00000377326.3_Missense_Mutation_p.H199Y|MEN1_ENST00000312049.6_Missense_Mutation_p.H199Y	NM_130803.2	NP_570715	O00255	MEN1_HUMAN	multiple endocrine neoplasia I	204					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|chromatin remodeling (GO:0006338)|DNA repair (GO:0006281)|embryonic skeletal system morphogenesis (GO:0048704)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|histone lysine methylation (GO:0034968)|leukocyte homeostasis (GO:0001776)|MAPK cascade (GO:0000165)|maternal process involved in female pregnancy (GO:0060135)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of JNK cascade (GO:0046329)|negative regulation of organ growth (GO:0046621)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of telomerase activity (GO:0051974)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|osteoblast development (GO:0002076)|osteoblast fate commitment (GO:0002051)|palate development (GO:0060021)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell division (GO:0051781)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of histone methylation (GO:0031062)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein binding (GO:0032092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of activin receptor signaling pathway (GO:0032925)|response to gamma radiation (GO:0010332)|response to UV (GO:0009411)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	chromatin (GO:0000785)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|histone methyltransferase complex (GO:0035097)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|four-way junction DNA binding (GO:0000400)|protein binding, bridging (GO:0030674)|protein N-terminus binding (GO:0047485)|R-SMAD binding (GO:0070412)|sequence-specific DNA binding (GO:0043565)|transcription regulatory region DNA binding (GO:0044212)|Y-form DNA binding (GO:0000403)			NS(7)|adrenal_gland(5)|breast(2)|central_nervous_system(5)|endometrium(1)|gastrointestinal_tract_(site_indeterminate)(15)|large_intestine(2)|lung(21)|ovary(1)|pancreas(64)|parathyroid(181)|pituitary(7)|prostate(4)|retroperitoneum(1)|skin(1)|small_intestine(13)|soft_tissue(4)|stomach(1)|thymus(2)	337						CCCTTGCCGTGCCAGGTGACC	0.632			"D, Mis, N, F, S"		"parathyroid tumors, Pancreatic neuroendocrine tumors"	"parathyroid adenoma, pituitary adenoma, pancreatic islet cell, carcinoid"			Multiple Endocrine Neoplasia, type 1;Hyperparathyroidism, Familial Isolated																												Esophageal Squamous(1;83 158 15500 18603 18803 29295)	ENST00000337652.1			yes	Rec	yes	Multiple Endocrine Neoplasia Type 1	11	11q13	4221	"D, Mis, N, F, S"	multiple endocrine neoplasia type 1 gene			E		"parathyroid adenoma, pituitary adenoma, pancreatic islet cell, carcinoid"	"parathyroid tumors, Pancreatic neuroendocrine tumors"		0				NS(7)|adrenal_gland(5)|breast(2)|central_nervous_system(5)|endometrium(1)|gastrointestinal_tract_(site_indeterminate)(15)|large_intestine(2)|lung(21)|ovary(1)|pancreas(64)|parathyroid(181)|pituitary(7)|prostate(4)|retroperitoneum(1)|skin(1)|small_intestine(13)|soft_tissue(4)|stomach(1)|thymus(2)	337						c.(610-612)Cac>Tac		multiple endocrine neoplasia I							85	66	72					11																	64575422		2201	4297	6498	SO:0001583	missense	0	Multiple Endocrine Neoplasia, type 1;Hyperparathyroidism, Familial Isolated	Familial Cancer Database	MEN1, Wermer disease;FIHP, FIHPT, HRPT1, Familial Isolated Primary Hyperparathyroidism	DNA repair|histone lysine methylation|MAPKKK cascade|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|negative regulation of JNK cascade|negative regulation of osteoblast differentiation|negative regulation of protein phosphorylation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of telomerase activity|negative regulation of transcription from RNA polymerase II promoter|osteoblast development|positive regulation of protein binding|positive regulation of transforming growth factor beta receptor signaling pathway|response to gamma radiation|response to UV|transcription, DNA-dependent	chromatin|cleavage furrow|cytosol|histone methyltransferase complex|nuclear matrix|soluble fraction	double-stranded DNA binding|four-way junction DNA binding|protein binding, bridging|protein N-terminus binding|R-SMAD binding|transcription regulatory region DNA binding|Y-form DNA binding	g.chr11:64575422G>A	U93236	CCDS8083.1, CCDS31600.1	11q13	2014-09-17			ENSG00000133895	ENSG00000133895			7010	protein-coding gene	gene with protein product	"menin"	613733					Standard	NM_130799		Approved		uc001obn.3	O00255	OTTHUMG00000045366	ENST00000337652.1:c.610C>T	11.37:g.64575422G>A	ENSP00000337088:p.His204Tyr					MEN1_ENST00000394374.2_Missense_Mutation_p.H204Y|MEN1_ENST00000443283.1_Missense_Mutation_p.H204Y|MEN1_ENST00000394376.1_Missense_Mutation_p.H204Y|MEN1_ENST00000377326.3_Missense_Mutation_p.H199Y|MEN1_ENST00000377313.1_Missense_Mutation_p.H204Y|MEN1_ENST00000377321.1_Intron|MEN1_ENST00000315422.4_Missense_Mutation_p.H199Y|MEN1_ENST00000312049.6_Missense_Mutation_p.H199Y|MEN1_ENST00000377316.2_Missense_Mutation_p.H199Y	p.H204Y	NM_130803.2	NP_570715.1	O00255	MEN1_HUMAN			3	1113	-			204					A5HBC6|A5HBC7|A5HBC8|A5HBC9|A5HBD0|A5HBD1|A5HBD2|O00632|Q9BUF0|Q9BUK2	Missense_Mutation	SNP	ENST00000337652.1	37	c.610C>T	CCDS8083.1	.	.	.	.	.	.	.	.	.	.	G	26.1	4.700389	0.88924	.	.	ENSG00000133895	ENST00000377316;ENST00000377326;ENST00000312049;ENST00000315422;ENST00000337652;ENST00000394376;ENST00000394374;ENST00000443283;ENST00000377313;ENST00000440873;ENST00000450708;ENST00000413626	D;D;D;D;D;D;D;D;D;D;D;D	0.99607	-6.27;-6.27;-6.27;-6.27;-6.27;-6.27;-6.27;-6.27;-6.27;-6.27;-6.27;-6.27	4.76	4.76	0.60689	.	0.114155	0.64402	D	0.000018	D	0.99459	0.9808	M	0.67397	2.05	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.71870	0.958;0.975	D	0.98342	1.0539	10	0.87932	D	0	-7.1759	15.7236	0.77736	0.0:0.0:1.0:0.0	.	199;204	O00255-2;O00255	.;MEN1_HUMAN	Y	199;199;199;199;204;204;204;204;204;199;199;199	ENSP00000366533:H199Y;ENSP00000366543:H199Y;ENSP00000308975:H199Y;ENSP00000323747:H199Y;ENSP00000337088:H204Y;ENSP00000377901:H204Y;ENSP00000377899:H204Y;ENSP00000396940:H204Y;ENSP00000366530:H204Y;ENSP00000413944:H199Y;ENSP00000394933:H199Y;ENSP00000411218:H199Y	ENSP00000308975:H199Y	H	-	1	0	MEN1	64331998	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	8.690000	0.91272	2.382000	0.81193	0.456000	0.33151	CAC		0.632	MEN1-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000143881.1			14	19	0	0	0	1	0	14	19					A	64575422	G	A	64575422	3	1	435	1	0	0	0	0	1	0	0	0	9472	1319	46	3	1269	3	MEN1	11	64575422	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	2903	64575422	70431094	5220	26145											
CDC42BPG	55561	broad.mit.edu	37	chr11	64594813	64594813	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agcggcgcttgctcttggtgCggaacagctggcgccggctg	4	8	17	12	5	1	0	0	0	1	0	1	1	1	1	1	5	5	4	1	5	1	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:64594813C>T	ENST00000342711.5	-	33	4207	c.4208G>A	c.(4207-4209)cGc>cAc	p.R1403H		NM_017525.2	NP_059995.2			CDC42 binding protein kinase gamma (DMPK-like)									p.R1403H(1)		central_nervous_system(1)|lung(3)	4						GCTCTTGGTGCGGAACAGCTG	0.652																																						ENST00000342711.5																			1	Substitution - Missense(1)	p.R1403H(1)	large_intestine(1)	central_nervous_system(1)|lung(3)	4						c.(4207-4209)cGc>cAc		CDC42 binding protein kinase gamma (DMPK-like)							83	94	90					11																	64594813		2201	4297	6498	SO:0001583	missense	55561				actin cytoskeleton reorganization|intracellular signal transduction	cell leading edge|centrosome	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chr11:64594813C>T	AY648038	CCDS31601.1	11q13	2013-01-10			ENSG00000171219	ENSG00000171219		"Pleckstrin homology (PH) domain containing"	29829	protein-coding gene	gene with protein product		613991				9341881, 15194684	Standard	NM_017525		Approved	HSMDPKIN, MRCKgamma, DMPK2, kappa-200	uc001obs.4	Q6DT37	OTTHUMG00000045365	ENST00000342711.5:c.4208G>A	11.37:g.64594813C>T	ENSP00000345133:p.Arg1403His						p.R1403H	NM_017525.2	NP_059995.2	Q6DT37	MRCKG_HUMAN			33	4207	-			1403						Missense_Mutation	SNP	ENST00000342711.5	37	c.4208G>A	CCDS31601.1	.	.	.	.	.	.	.	.	.	.	C	27.2	4.813769	0.90790	.	.	ENSG00000171219	ENST00000342711	T	0.72051	-0.62	4.82	4.82	0.62117	.	0.000000	0.45126	D	0.000399	D	0.83876	0.5349	M	0.81942	2.565	0.42186	D	0.991703	D	0.89917	1.0	D	0.68621	0.959	D	0.86739	0.1953	10	0.87932	D	0	.	15.8054	0.78501	0.0:1.0:0.0:0.0	.	1403	Q6DT37	MRCKG_HUMAN	H	1403	ENSP00000345133:R1403H	ENSP00000345133:R1403H	R	-	2	0	CDC42BPG	64351389	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.284000	0.51708	2.409000	0.81822	0.561000	0.74099	CGC		0.652	CDC42BPG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000105352.4	XM_290516		34	54	0	0	0	1	0	34	54					T	64594813	C	T	64594813	3	4	435	1	0	0	0	0	1	0	0	0	3074	768	27	1	467	1	CDC42BPG	11	64594813	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	19391	64594813	70411703	5221	26146											
CDC42BPG	55561	broad.mit.edu	37	chr11	64606548	64606548	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aggtttccaccaaggactcaGcatagaagggcgtctcccca	11	7	10	13	1	2	1	1	0	1	1	4	2	3	2	4	3	1	2	4	3	3	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:64606548G>T	ENST00000342711.5	-	7	832	c.833C>A	c.(832-834)gCt>gAt	p.A278D		NM_017525.2	NP_059995.2			CDC42 binding protein kinase gamma (DMPK-like)											central_nervous_system(1)|lung(3)	4						CAAGGACTCAGCATAGAAGGG	0.607																																						ENST00000342711.5																			0				central_nervous_system(1)|lung(3)	4						c.(832-834)gCt>gAt		CDC42 binding protein kinase gamma (DMPK-like)							97	91	93					11																	64606548		2201	4297	6498	SO:0001583	missense	55561				actin cytoskeleton reorganization|intracellular signal transduction	cell leading edge|centrosome	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chr11:64606548G>T	AY648038	CCDS31601.1	11q13	2013-01-10			ENSG00000171219	ENSG00000171219		"Pleckstrin homology (PH) domain containing"	29829	protein-coding gene	gene with protein product		613991				9341881, 15194684	Standard	NM_017525		Approved	HSMDPKIN, MRCKgamma, DMPK2, kappa-200	uc001obs.4	Q6DT37	OTTHUMG00000045365	ENST00000342711.5:c.833C>A	11.37:g.64606548G>T	ENSP00000345133:p.Ala278Asp						p.A278D	NM_017525.2	NP_059995.2	Q6DT37	MRCKG_HUMAN			7	832	-			278			Protein kinase.			Missense_Mutation	SNP	ENST00000342711.5	37	c.833C>A	CCDS31601.1	.	.	.	.	.	.	.	.	.	.	G	25.7	4.661802	0.88154	.	.	ENSG00000171219	ENST00000342711	T	0.23552	1.9	5.27	5.27	0.74061	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.51477	D	0.000085	T	0.37679	0.1012	N	0.17764	0.52	0.58432	D	0.999995	D	0.89917	1.0	D	0.91635	0.999	T	0.30851	-0.9964	10	0.87932	D	0	.	16.7333	0.85440	0.0:0.0:1.0:0.0	.	278	Q6DT37	MRCKG_HUMAN	D	278	ENSP00000345133:A278D	ENSP00000345133:A278D	A	-	2	0	CDC42BPG	64363124	1.000000	0.71417	0.472000	0.27241	0.904000	0.53231	6.689000	0.74562	2.623000	0.88846	0.655000	0.94253	GCT		0.607	CDC42BPG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000105352.4	XM_290516		13	18	1	0	4.3838e-07	1	4.58243e-07	13	18					T	64606548	G	T	64606548	3	4	435	1	0	0	0	0	1	0	0	0	3074	971	34	5	3946	5	CDC42BPG	11	64606548	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	11735	64606548	70399968	5222	26147											
EHD1	10938	broad.mit.edu	37	chr11	64627628	64627628	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccccgtacacccgcatcagcTgctgcgtctcgatctggtct	5	10	9	17	4	4	0	1	0	3	0	5	1	4	0	3	1	4	4	3	1	1	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:64627628T>C	ENST00000320631.3	-	3	937	c.683A>G	c.(682-684)cAg>cGg	p.Q228R	EHD1_ENST00000359393.2_Missense_Mutation_p.Q228R	NM_001282445.1|NM_006795.2	NP_001269374.1|NP_006786.2	Q9H4M9	EHD1_HUMAN	EH-domain containing 1	228	Dynamin-type G.				blood coagulation (GO:0007596)|cellular response to nerve growth factor stimulus (GO:1990090)|cholesterol homeostasis (GO:0042632)|endocytic recycling (GO:0032456)|endocytosis (GO:0006897)|intracellular protein transport (GO:0006886)|low-density lipoprotein particle clearance (GO:0034383)|neuron projection development (GO:0031175)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of endocytic recycling (GO:2001137)|positive regulation of myoblast fusion (GO:1901741)|protein homooligomerization (GO:0051260)	early endosome membrane (GO:0031901)|endocytic vesicle (GO:0030139)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|lipid particle (GO:0005811)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|recycling endosome membrane (GO:0055038)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|Rab GTPase binding (GO:0017137)			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	12						CCGCATCAGCTGCTGCGTCTC	0.587																																						ENST00000320631.3																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	12						c.(682-684)cAg>cGg		EH-domain containing 1							103	98	100					11																	64627628		2201	4297	6498	SO:0001583	missense	10938				blood coagulation|cholesterol homeostasis|endocytic recycling|intracellular protein transport|low-density lipoprotein particle clearance|positive regulation of cholesterol storage|protein homooligomerization	early endosome membrane|lipid particle|plasma membrane|platelet dense tubular network membrane|recycling endosome membrane	ATP binding|calcium ion binding|GTP binding|GTPase activity|protein binding	g.chr11:64627628T>C	AF099011	CCDS8084.1, CCDS73315.1	11q13	2013-01-10			ENSG00000110047	ENSG00000110047		"EF-hand domain containing"	3242	protein-coding gene	gene with protein product	"testilin"	605888		PAST1		10395801, 10673336	Standard	NM_001282444		Approved	H-PAST, HPAST1, FLJ42622, FLJ44618	uc001obu.1	Q9H4M9	OTTHUMG00000066832	ENST00000320631.3:c.683A>G	11.37:g.64627628T>C	ENSP00000320516:p.Gln228Arg					EHD1_ENST00000359393.2_Missense_Mutation_p.Q228R	p.Q228R	NM_006795.2	NP_006786.2	Q9H4M9	EHD1_HUMAN			3	937	-			228					O14611|Q2M3Q4|Q9UNR3	Missense_Mutation	SNP	ENST00000320631.3	37	c.683A>G	CCDS8084.1	.	.	.	.	.	.	.	.	.	.	T	19.33	3.806776	0.70682	.	.	ENSG00000110047	ENST00000320631;ENST00000359393;ENST00000541001;ENST00000421303;ENST00000421510;ENST00000433803;ENST00000455148	T;T;T;T;T	0.47869	2.12;2.12;0.83;1.42;0.89	5.07	5.07	0.68467	.	0.000000	0.85682	D	0.000000	T	0.53498	0.1800	M	0.86268	2.805	0.80722	D	1	B;B	0.10296	0.003;0.003	B;B	0.10450	0.005;0.005	T	0.57946	-0.7723	10	0.66056	D	0.02	-51.0155	12.823	0.57704	0.0:0.0:0.0:1.0	.	228;228	B2R5U3;Q9H4M9	.;EHD1_HUMAN	R	228;228;204;242;92;242;92	ENSP00000320516:Q228R;ENSP00000352354:Q228R;ENSP00000391429:Q92R;ENSP00000404944:Q242R;ENSP00000396273:Q92R	ENSP00000320516:Q228R	Q	-	2	0	EHD1	64384204	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.803000	0.85983	2.132000	0.65825	0.459000	0.35465	CAG		0.587	EHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143229.2	NM_006795		20	20	0	0	0	1	0	20	20					C	64627628	T	C	64627628	3	2	435	1	0	0	0	0	1	0	0	0	4977	1580	55	4	933	4	EHD1	11	64627628	Missense_Mutation	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	21080	64627628	70378888	5223	26148											
ATG2A	23130	broad.mit.edu	37	chr11	64665161	64665161	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accacctggtccatcgtgacGtgcttgccatggtaatccag	8	10	10	13	2	0	1	0	1	0	0	3	1	2	1	5	2	2	2	5	2	1	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:64665161G>A	ENST00000377264.3	-	36	5161	c.5049C>T	c.(5047-5049)caC>caT	p.H1683H	ATG2A_ENST00000421419.2_Silent_p.H1685H	NM_015104.2	NP_055919.2	Q2TAZ0	ATG2A_HUMAN	autophagy related 2A	1683					autophagic vacuole assembly (GO:0000045)|cellular response to nitrogen starvation (GO:0006995)|mitochondrion degradation (GO:0000422)|nucleophagy (GO:0044804)	extrinsic component of membrane (GO:0019898)|lipid particle (GO:0005811)|pre-autophagosomal structure (GO:0000407)				breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(19)|ovary(3)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	55						CCATCGTGACGTGCTTGCCAT	0.627																																						ENST00000421419.2																			0				breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(19)|ovary(3)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	55						c.(5053-5055)caC>caT		autophagy related 2A							95	88	90					11																	64665161		2201	4297	6498	SO:0001819	synonymous_variant	23130						protein binding	g.chr11:64665161G>A		CCDS31602.1	11q13.1	2014-02-12	2012-06-06		ENSG00000110046	ENSG00000110046			29028	protein-coding gene	gene with protein product			"ATG2 autophagy related 2 homolog A (S. cerevisiae)"			21887408	Standard	NM_015104		Approved	KIAA0404	uc001obx.3	Q2TAZ0	OTTHUMG00000066831	ENST00000377264.3:c.5049C>T	11.37:g.64665161G>A						ATG2A_ENST00000377264.3_Silent_p.H1683H	p.H1685H			Q2TAZ0	ATG2A_HUMAN			36	5169	-			1683					O43154|Q14DM2|Q6ZTV2|Q7Z6K8|Q8IVY5|Q8TAI8|Q96HH7	Silent	SNP	ENST00000377264.3	37	c.5055C>T	CCDS31602.1	.	.	.	.	.	.	.	.	.	.	G	8.392	0.839981	0.16891	.	.	ENSG00000110046	ENST00000418259	.	.	.	4.1	-1.13	0.09775	.	.	.	.	.	T	0.53738	0.1815	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.47812	-0.9088	4	.	.	.	.	8.1346	0.31048	0.6464:0.0:0.3536:0.0	.	.	.	.	C	1487	.	.	R	-	1	0	ATG2A	64421737	0.993000	0.37304	0.994000	0.49952	0.986000	0.74619	0.392000	0.20801	-0.090000	0.12462	0.561000	0.74099	CGT		0.627	ATG2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000143224.1	NM_015104		20	22	0	0	0	1	0	20	22					A	64665161	G	A	64665161	2	1	435	1	0	0	0	0	0	0	0	1	1093	1136	40	1		1	ATG2A	11	64665161	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	37533	64665161	70341355	5224	26149											
ATG2A	23130	broad.mit.edu	37	chr11	64678120	64678120	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcgcaggatctgtgtgtggcGcagatgggcgcagggccgag	6	6	20	9	4	1	1	0	0	1	1	1	3	1	2	1	4	0	3	1	4	0	0	rs375562497		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:64678120G>A	ENST00000377264.3	-	12	1787	c.1675C>T	c.(1675-1677)Cgc>Tgc	p.R559C	ATG2A_ENST00000421419.2_Missense_Mutation_p.R559C	NM_015104.2	NP_055919.2	Q2TAZ0	ATG2A_HUMAN	autophagy related 2A	559					autophagic vacuole assembly (GO:0000045)|cellular response to nitrogen starvation (GO:0006995)|mitochondrion degradation (GO:0000422)|nucleophagy (GO:0044804)	extrinsic component of membrane (GO:0019898)|lipid particle (GO:0005811)|pre-autophagosomal structure (GO:0000407)				breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(19)|ovary(3)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	55						TGTGTGTGGCGCAGATGGGCG	0.682																																						ENST00000421419.2																			0				breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(19)|ovary(3)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	55						c.(1675-1677)Cgc>Tgc		autophagy related 2A		G	CYS/ARG	1,4395		0,1,2197	58	55	56		1675	4.1	1	11		56	0,8588		0,0,4294	no	missense	ATG2A	NM_015104.2	180	0,1,6491	AA,AG,GG		0.0,0.0227,0.0077	benign	559/1939	64678120	1,12983	2198	4294	6492	SO:0001583	missense	23130						protein binding	g.chr11:64678120G>A		CCDS31602.1	11q13.1	2014-02-12	2012-06-06		ENSG00000110046	ENSG00000110046			29028	protein-coding gene	gene with protein product			"ATG2 autophagy related 2 homolog A (S. cerevisiae)"			21887408	Standard	NM_015104		Approved	KIAA0404	uc001obx.3	Q2TAZ0	OTTHUMG00000066831	ENST00000377264.3:c.1675C>T	11.37:g.64678120G>A	ENSP00000366475:p.Arg559Cys					ATG2A_ENST00000377264.3_Missense_Mutation_p.R559C	p.R559C			Q2TAZ0	ATG2A_HUMAN			12	1789	-			559					O43154|Q14DM2|Q6ZTV2|Q7Z6K8|Q8IVY5|Q8TAI8|Q96HH7	Missense_Mutation	SNP	ENST00000377264.3	37	c.1675C>T	CCDS31602.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.88|13.88	2.370116|2.370116	0.42003|0.42003	2.27E-4|2.27E-4	0.0|0.0	ENSG00000110046|ENSG00000110046	ENST00000418259|ENST00000421419;ENST00000377264	.|T;T	.|0.07567	.|3.18;3.18	4.97|4.97	4.06|4.06	0.47325|0.47325	.|.	.|0.124722	.|0.53938	.|N	.|0.000046	T|T	0.06142|0.06142	0.0159|0.0159	N|N	0.19112|0.19112	0.55|0.55	0.41043|0.41043	D|D	0.985241|0.985241	.|B	.|0.09022	.|0.002	.|B	.|0.04013	.|0.001	T|T	0.22941|0.22941	-1.0202|-1.0202	5|10	.|0.62326	.|D	.|0.03	.|.	9.7823|9.7823	0.40656|0.40656	0.0971:0.0:0.9029:0.0|0.0971:0.0:0.9029:0.0	.|.	.|559	.|Q2TAZ0	.|ATG2A_HUMAN	V|C	360|559	.|ENSP00000410522:R559C;ENSP00000366475:R559C	.|ENSP00000366475:R559C	A|R	-|-	2|1	0|0	ATG2A|ATG2A	64434696|64434696	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.631000|0.631000	0.37964|0.37964	3.763000|3.763000	0.55257|0.55257	1.220000|1.220000	0.43490|0.43490	0.462000|0.462000	0.41574|0.41574	GCG|CGC		0.682	ATG2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000143224.1	NM_015104		3	4	0	0	0	1	0	3	4					A	64678120	G	A	64678120	3	1	435	1	0	0	0	0	1	0	0	0	1093	1087	38	1	4261	1	ATG2A	11	64678120	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	12959	64678120	70328396	5225	26150											
ATG2A	23130	broad.mit.edu	37	chr11	64678411	64678411	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agctcccaggacagctgcacGgctgtgcccgttagcctgcg	6	7	13	15	3	0	0	0	0	0	0	1	1	1	1	3	2	6	5	3	2	1	1	rs144361706	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:64678411G>A	ENST00000377264.3	-	11	1594	c.1482C>T	c.(1480-1482)gcC>gcT	p.A494A	ATG2A_ENST00000421419.2_Silent_p.A494A	NM_015104.2	NP_055919.2	Q2TAZ0	ATG2A_HUMAN	autophagy related 2A	494					autophagic vacuole assembly (GO:0000045)|cellular response to nitrogen starvation (GO:0006995)|mitochondrion degradation (GO:0000422)|nucleophagy (GO:0044804)	extrinsic component of membrane (GO:0019898)|lipid particle (GO:0005811)|pre-autophagosomal structure (GO:0000407)				breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(19)|ovary(3)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	55						ACAGCTGCACGGCTGTGCCCG	0.662																																						ENST00000421419.2																			0				breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(19)|ovary(3)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	55						c.(1480-1482)gcC>gcT		autophagy related 2A							22	26	25					11																	64678411		2200	4296	6496	SO:0001819	synonymous_variant	23130						protein binding	g.chr11:64678411G>A		CCDS31602.1	11q13.1	2014-02-12	2012-06-06		ENSG00000110046	ENSG00000110046			29028	protein-coding gene	gene with protein product			"ATG2 autophagy related 2 homolog A (S. cerevisiae)"			21887408	Standard	NM_015104		Approved	KIAA0404	uc001obx.3	Q2TAZ0	OTTHUMG00000066831	ENST00000377264.3:c.1482C>T	11.37:g.64678411G>A						ATG2A_ENST00000377264.3_Silent_p.A494A	p.A494A			Q2TAZ0	ATG2A_HUMAN			11	1596	-			494					O43154|Q14DM2|Q6ZTV2|Q7Z6K8|Q8IVY5|Q8TAI8|Q96HH7	Silent	SNP	ENST00000377264.3	37	c.1482C>T	CCDS31602.1	.	.	.	.	.	.	.	.	.	.	G	10.40	1.338513	0.24253	.	.	ENSG00000110046	ENST00000418259	.	.	.	5.11	-10.2	0.00374	.	.	.	.	.	T	0.46308	0.1386	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.56238	-0.8012	4	.	.	.	.	8.6449	0.34000	0.5941:0.1947:0.2112:0.0	.	.	.	.	C	296	.	.	R	-	1	0	ATG2A	64434987	0.000000	0.05858	0.116000	0.21606	0.381000	0.30169	-5.425000	0.00123	-2.035000	0.00923	-0.355000	0.07637	CGT		0.662	ATG2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000143224.1	NM_015104		9	7	0	0	0	1	0	9	7					A	64678411	G	A	64678411	2	1	435	1	0	0	0	0	0	0	0	1	1093	1103	39	2		2	ATG2A	11	64678411	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	291	64678411	70328105	5226	26151											
ATG2A	23130	broad.mit.edu	37	chr11	64678561	64678561	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcgtggtcgaaggtgatggAagtctcgggaaccgaagggc	10	6	18	7	4	1	1	0	1	1	0	3	5	1	3	1	5	2	0	1	5	4	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:64678561A>G	ENST00000377264.3	-	10	1527	c.1415T>C	c.(1414-1416)tTc>tCc	p.F472S	ATG2A_ENST00000421419.2_Missense_Mutation_p.F472S	NM_015104.2	NP_055919.2	Q2TAZ0	ATG2A_HUMAN	autophagy related 2A	472					autophagic vacuole assembly (GO:0000045)|cellular response to nitrogen starvation (GO:0006995)|mitochondrion degradation (GO:0000422)|nucleophagy (GO:0044804)	extrinsic component of membrane (GO:0019898)|lipid particle (GO:0005811)|pre-autophagosomal structure (GO:0000407)				breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(19)|ovary(3)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	55						AAGGTGATGGAAGTCTCGGGA	0.597																																						ENST00000421419.2																			0				breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(19)|ovary(3)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	55						c.(1414-1416)tTc>tCc		autophagy related 2A							87	83	84					11																	64678561		2201	4297	6498	SO:0001583	missense	23130						protein binding	g.chr11:64678561A>G		CCDS31602.1	11q13.1	2014-02-12	2012-06-06		ENSG00000110046	ENSG00000110046			29028	protein-coding gene	gene with protein product			"ATG2 autophagy related 2 homolog A (S. cerevisiae)"			21887408	Standard	NM_015104		Approved	KIAA0404	uc001obx.3	Q2TAZ0	OTTHUMG00000066831	ENST00000377264.3:c.1415T>C	11.37:g.64678561A>G	ENSP00000366475:p.Phe472Ser					ATG2A_ENST00000377264.3_Missense_Mutation_p.F472S	p.F472S			Q2TAZ0	ATG2A_HUMAN			10	1529	-			472					O43154|Q14DM2|Q6ZTV2|Q7Z6K8|Q8IVY5|Q8TAI8|Q96HH7	Missense_Mutation	SNP	ENST00000377264.3	37	c.1415T>C	CCDS31602.1	.	.	.	.	.	.	.	.	.	.	A	24.8	4.572860	0.86542	.	.	ENSG00000110046	ENST00000421419;ENST00000377264	T;T	0.11063	2.81;2.81	4.59	4.59	0.56863	.	0.056991	0.64402	D	0.000001	T	0.24812	0.0602	L	0.54323	1.7	0.51767	D	0.999933	D	0.76494	0.999	D	0.63488	0.915	T	0.00686	-1.1610	10	0.87932	D	0	.	12.2499	0.54591	1.0:0.0:0.0:0.0	.	472	Q2TAZ0	ATG2A_HUMAN	S	472	ENSP00000410522:F472S;ENSP00000366475:F472S	ENSP00000366475:F472S	F	-	2	0	ATG2A	64435137	1.000000	0.71417	0.999000	0.59377	0.973000	0.67179	5.264000	0.65513	2.063000	0.61619	0.379000	0.24179	TTC		0.597	ATG2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000143224.1	NM_015104		7	22	0	0	0	1	0	7	22					G	64678561	A	G	64678561	3	3	435	1	0	0	0	0	1	0	0	0	1093	246	9	4	4529	4	ATG2A	11	64678561	Missense_Mutation	SNP	A	TCGA-XK-AAIW-01A-11D-A41K-08	150	64678561	70327955	5227	26152											
ATG2A	23130	broad.mit.edu	37	chr11	64678617	64678617	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcaaactcggtgaaaaagtgCgtggcgaggtcaggtggtcc	10	8	15	8	3	2	1	2	1	0	0	4	2	3	1	1	5	2	0	1	5	3	0	rs151243555		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:64678617C>T	ENST00000377264.3	-	10	1471	c.1359G>A	c.(1357-1359)acG>acA	p.T453T	ATG2A_ENST00000421419.2_Silent_p.T453T	NM_015104.2	NP_055919.2	Q2TAZ0	ATG2A_HUMAN	autophagy related 2A	453					autophagic vacuole assembly (GO:0000045)|cellular response to nitrogen starvation (GO:0006995)|mitochondrion degradation (GO:0000422)|nucleophagy (GO:0044804)	extrinsic component of membrane (GO:0019898)|lipid particle (GO:0005811)|pre-autophagosomal structure (GO:0000407)		p.T453T(1)		breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(19)|ovary(3)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	55						TGAAAAAGTGCGTGGCGAGGT	0.607																																						ENST00000421419.2																			1	Substitution - coding silent(1)	p.T453T(1)	lung(1)	breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(19)|ovary(3)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	55						c.(1357-1359)acG>acA		autophagy related 2A		C		0,4402		0,0,2201	115	105	108		1359	2.9	0.8	11	dbSNP_134	108	2,8592	2.2+/-6.3	0,2,4295	no	coding-synonymous	ATG2A	NM_015104.2		0,2,6496	TT,TC,CC		0.0233,0.0,0.0154		453/1939	64678617	2,12994	2201	4297	6498	SO:0001819	synonymous_variant	23130						protein binding	g.chr11:64678617C>T		CCDS31602.1	11q13.1	2014-02-12	2012-06-06		ENSG00000110046	ENSG00000110046			29028	protein-coding gene	gene with protein product			"ATG2 autophagy related 2 homolog A (S. cerevisiae)"			21887408	Standard	NM_015104		Approved	KIAA0404	uc001obx.3	Q2TAZ0	OTTHUMG00000066831	ENST00000377264.3:c.1359G>A	11.37:g.64678617C>T						ATG2A_ENST00000377264.3_Silent_p.T453T	p.T453T			Q2TAZ0	ATG2A_HUMAN			10	1473	-			453					O43154|Q14DM2|Q6ZTV2|Q7Z6K8|Q8IVY5|Q8TAI8|Q96HH7	Silent	SNP	ENST00000377264.3	37	c.1359G>A	CCDS31602.1	.	.	.	.	.	.	.	.	.	.	C	8.873	0.949673	0.18431	0.0	2.33E-4	ENSG00000110046	ENST00000418259	.	.	.	4.82	2.94	0.34122	.	.	.	.	.	T	0.46737	0.1408	.	.	.	0.58432	D	0.999992	.	.	.	.	.	.	T	0.34104	-0.9842	4	.	.	.	.	3.6373	0.08154	0.092:0.175:0.5683:0.1647	.	.	.	.	T	255	.	.	A	-	1	0	ATG2A	64435193	0.998000	0.40836	0.815000	0.32552	0.924000	0.55760	0.420000	0.21263	0.756000	0.33013	-1.083000	0.02208	GCA		0.607	ATG2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000143224.1	NM_015104		10	12	0	0	0	1	0	10	12					T	64678617	C	T	64678617	2	4	435	1	0	0	0	0	0	0	0	1	1093	755	27	1		1	ATG2A	11	64678617	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	56	64678617	70327899	5228	26153											
CDCA5	113130	broad.mit.edu	37	chr11	64847156	64847156	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cggcctcagggttcggcacaGgagtgctggtgggggtggca	5	7	20	9	2	1	0	1	0	0	0	2	1	1	1	1	8	1	4	1	8	0	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:64847156G>T	ENST00000275517.3	-	5	519	c.347C>A	c.(346-348)cCt>cAt	p.P116H	CDCA5_ENST00000404147.3_Missense_Mutation_p.P116H	NM_080668.3	NP_542399.1	Q96FF9	CDCA5_HUMAN	cell division cycle associated 5	116					double-strand break repair (GO:0006302)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)|mitotic metaphase plate congression (GO:0007080)|mitotic nuclear division (GO:0007067)|mitotic sister chromatid cohesion (GO:0007064)|regulation of cohesin localization to chromatin (GO:0071922)	chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cohesin complex (GO:0008278)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	chromatin binding (GO:0003682)			large_intestine(1)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	7						GTTCGGCACAGGAGTGCTGGT	0.567																																						ENST00000275517.3																			0				large_intestine(1)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	7						c.(346-348)cCt>cAt		cell division cycle associated 5							17	17	17					11																	64847156		2200	4297	6497	SO:0001583	missense	113130				cell division|double-strand break repair|G1/S transition of mitotic cell cycle|mitotic chromosome condensation|mitotic metaphase plate congression|mitotic sister chromatid cohesion|regulation of cohesin localization to chromatin	cytoplasm|nuclear chromatin|plasma membrane	chromatin binding|identical protein binding	g.chr11:64847156G>T	BG354578	CCDS8091.1	11q13.1	2011-01-31			ENSG00000146670	ENSG00000146670			14626	protein-coding gene	gene with protein product	"sororin"	609374				12188893, 15837422	Standard	NM_080668		Approved		uc001ocp.2	Q96FF9	OTTHUMG00000150420	ENST00000275517.3:c.347C>A	11.37:g.64847156G>T	ENSP00000275517:p.Pro116His					CDCA5_ENST00000404147.3_Missense_Mutation_p.P116H	p.P116H	NM_080668.3	NP_542399.1	Q96FF9	CDCA5_HUMAN			5	519	-			116					A8K625	Missense_Mutation	SNP	ENST00000275517.3	37	c.347C>A	CCDS8091.1	.	.	.	.	.	.	.	.	.	.	G	18.61	3.660757	0.67700	.	.	ENSG00000146670	ENST00000275517;ENST00000404147	T;T	0.49432	0.78;0.78	5.14	5.14	0.70334	.	0.000000	0.85682	D	0.000000	T	0.66446	0.2790	M	0.68317	2.08	0.29994	N	0.816585	D	0.89917	1.0	D	0.91635	0.999	T	0.66767	-0.5840	10	0.87932	D	0	.	14.4391	0.67303	0.0:0.0:1.0:0.0	.	116	Q96FF9	CDCA5_HUMAN	H	116	ENSP00000275517:P116H;ENSP00000385711:P116H	ENSP00000275517:P116H	P	-	2	0	CDCA5	64603732	0.583000	0.26757	0.278000	0.24718	0.036000	0.12997	2.791000	0.47829	2.533000	0.85409	0.637000	0.83480	CCT		0.567	CDCA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385186.1	NM_080668		7	8	1	0	0.000274275	1	0.000279654	7	8					T	64847156	G	T	64847156	3	4	435	1	0	0	0	0	1	0	0	0	3089	1000	35	5	419	5	CDCA5	11	64847156	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	168539	64847156	70159360	5229	26154											
CAPN1	823	broad.mit.edu	37	chr11	64972270	64972270	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgcccttatgcagaagcacCgtcgccgcgagcgccgcttc	6	7	11	17	7	0	1	0	0	0	1	3	2	0	1	4	0	3	3	4	0	2	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:64972270C>T	ENST00000527323.1	+	10	1522	c.1282C>T	c.(1282-1284)Cgt>Tgt	p.R428C	CAPN1_ENST00000279247.6_Missense_Mutation_p.R428C|CAPN1_ENST00000524773.1_Missense_Mutation_p.R428C|CAPN1_ENST00000533129.1_Missense_Mutation_p.R428C|CAPN1_ENST00000533820.1_Missense_Mutation_p.R428C			P07384	CAN1_HUMAN	calpain 1, (mu/I) large subunit	428	Domain III.				extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of cell proliferation (GO:0008284)|proteolysis (GO:0006508)|receptor catabolic process (GO:0032801)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)			breast(2)|endometrium(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)	13		Lung NSC(402;0.094)|Melanoma(852;0.16)		Lung(977;0.00168)|LUSC - Lung squamous cell carcinoma(976;0.00813)		GCAGAAGCACCGTCGCCGCGA	0.637											OREG0021073	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000527323.1																			0				breast(2)|endometrium(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)	13						c.(1282-1284)Cgt>Tgt		calpain 1, (mu/I) large subunit							42	50	48					11																	64972270		2065	4191	6256	SO:0001583	missense	823				positive regulation of cell proliferation|proteolysis	cytoplasm|plasma membrane	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity|protein binding	g.chr11:64972270C>T	X04366	CCDS44644.1	11q13	2013-01-10			ENSG00000014216	ENSG00000014216	3.4.22.52	"EF-hand domain containing"	1476	protein-coding gene	gene with protein product		114220				3017764, 2209092	Standard	NM_005186		Approved	muCANP, muCL, CANP, CANPL1	uc009yqd.2	P07384	OTTHUMG00000165614	ENST00000527323.1:c.1282C>T	11.37:g.64972270C>T	ENSP00000431984:p.Arg428Cys		OREG0021073	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1080	CAPN1_ENST00000279247.6_Missense_Mutation_p.R428C|CAPN1_ENST00000524773.1_Missense_Mutation_p.R428C|CAPN1_ENST00000533820.1_Missense_Mutation_p.R428C|CAPN1_ENST00000533129.1_Missense_Mutation_p.R428C	p.R428C			P07384	CAN1_HUMAN		Lung(977;0.00168)|LUSC - Lung squamous cell carcinoma(976;0.00813)	10	1522	+		Lung NSC(402;0.094)|Melanoma(852;0.16)	428			Domain III.		Q2TTR0|Q6DHV4	Missense_Mutation	SNP	ENST00000527323.1	37	c.1282C>T	CCDS44644.1	.	.	.	.	.	.	.	.	.	.	C	24.1	4.490914	0.84962	.	.	ENSG00000014216	ENST00000533820;ENST00000533129;ENST00000524773;ENST00000279247;ENST00000259755;ENST00000527323	D;D;D;D;D	0.89050	-2.46;-2.46;-2.46;-2.46;-2.46	4.51	3.56	0.40772	Peptidase C2, calpain, large subunit, domain III (2);Peptidase C2, calpain, domain III (1);	0.060868	0.64402	D	0.000003	D	0.95101	0.8413	H	0.94847	3.59	0.80722	D	1	D	0.89917	1.0	D	0.71656	0.974	D	0.94654	0.7842	10	0.62326	D	0.03	.	9.8407	0.40998	0.3713:0.6287:0.0:0.0	.	428	P07384	CAN1_HUMAN	C	428;428;428;428;374;428	ENSP00000435272:R428C;ENSP00000431686:R428C;ENSP00000434176:R428C;ENSP00000279247:R428C;ENSP00000431984:R428C	ENSP00000259755:R374C	R	+	1	0	CAPN1	64728846	1.000000	0.71417	1.000000	0.80357	0.927000	0.56198	3.714000	0.54889	0.965000	0.38133	0.563000	0.77884	CGT		0.637	CAPN1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385325.1			3	50	0	0	0	1	0	3	50					T	64972270	C	T	64972270	3	4	435	1	0	0	0	0	1	0	0	0	2622	652	23	2	1320	2	CAPN1	11	64972270	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	125114	64972270	70034246	5230	26155											
CAPN1	823	broad.mit.edu	37	chr11	64974115	64974115	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggagggcgacttcgtgctgcGcttcttctcagagaagagtg	7	10	15	9	3	2	2	1	0	2	2	4	5	2	3	0	2	2	2	0	2	1	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:64974115G>A	ENST00000527323.1	+	12	1775	c.1535G>A	c.(1534-1536)cGc>cAc	p.R512H	CAPN1_ENST00000279247.6_Missense_Mutation_p.R512H|CAPN1_ENST00000524773.1_Missense_Mutation_p.R512H|CAPN1_ENST00000533129.1_Missense_Mutation_p.R512H|CAPN1_ENST00000533820.1_Missense_Mutation_p.R512H			P07384	CAN1_HUMAN	calpain 1, (mu/I) large subunit	512	Domain III.				extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of cell proliferation (GO:0008284)|proteolysis (GO:0006508)|receptor catabolic process (GO:0032801)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)			breast(2)|endometrium(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)	13		Lung NSC(402;0.094)|Melanoma(852;0.16)		Lung(977;0.00168)|LUSC - Lung squamous cell carcinoma(976;0.00813)		TTCGTGCTGCGCTTCTTCTCA	0.647																																						ENST00000527323.1																			0				breast(2)|endometrium(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)	13						c.(1534-1536)cGc>cAc		calpain 1, (mu/I) large subunit							30	35	33					11																	64974115		2092	4208	6300	SO:0001583	missense	823				positive regulation of cell proliferation|proteolysis	cytoplasm|plasma membrane	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity|protein binding	g.chr11:64974115G>A	X04366	CCDS44644.1	11q13	2013-01-10			ENSG00000014216	ENSG00000014216	3.4.22.52	"EF-hand domain containing"	1476	protein-coding gene	gene with protein product		114220				3017764, 2209092	Standard	NM_005186		Approved	muCANP, muCL, CANP, CANPL1	uc009yqd.2	P07384	OTTHUMG00000165614	ENST00000527323.1:c.1535G>A	11.37:g.64974115G>A	ENSP00000431984:p.Arg512His					CAPN1_ENST00000279247.6_Missense_Mutation_p.R512H|CAPN1_ENST00000524773.1_Missense_Mutation_p.R512H|CAPN1_ENST00000533820.1_Missense_Mutation_p.R512H|CAPN1_ENST00000533129.1_Missense_Mutation_p.R512H	p.R512H			P07384	CAN1_HUMAN		Lung(977;0.00168)|LUSC - Lung squamous cell carcinoma(976;0.00813)	12	1775	+		Lung NSC(402;0.094)|Melanoma(852;0.16)	512			Domain III.		Q2TTR0|Q6DHV4	Missense_Mutation	SNP	ENST00000527323.1	37	c.1535G>A	CCDS44644.1	.	.	.	.	.	.	.	.	.	.	G	27.5	4.837144	0.91117	.	.	ENSG00000014216	ENST00000533820;ENST00000533129;ENST00000524773;ENST00000279247;ENST00000259755;ENST00000527323	D;D;D;D;D	0.90197	-2.63;-2.63;-2.63;-2.63;-2.63	5.06	5.06	0.68205	Peptidase C2, calpain, large subunit, domain III (2);Peptidase C2, calpain, domain III (1);	0.000000	0.85682	D	0.000000	D	0.96738	0.8935	H	0.95645	3.7	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97850	1.0274	10	0.72032	D	0.01	.	15.9138	0.79496	0.0:0.0:1.0:0.0	.	512	P07384	CAN1_HUMAN	H	512;512;512;512;458;512	ENSP00000435272:R512H;ENSP00000431686:R512H;ENSP00000434176:R512H;ENSP00000279247:R512H;ENSP00000431984:R512H	ENSP00000259755:R458H	R	+	2	0	CAPN1	64730691	1.000000	0.71417	0.999000	0.59377	0.692000	0.40212	9.756000	0.98918	2.341000	0.79615	0.462000	0.41574	CGC		0.647	CAPN1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385325.1			14	25	0	0	0	1	0	14	25					A	64974115	G	A	64974115	3	1	435	1	0	0	0	0	1	0	0	0	2622	1087	38	1	1581	1	CAPN1	11	64974115	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	1845	64974115	70032401	5231	26156											
POLA2	23649	broad.mit.edu	37	chr11	65047044	65047044	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tagaagaacttggcagcgaaCtcaaggaacattacaagatt	17	8	9	7	1	1	3	1	0	0	3	1	5	1	4	0	2	5	1	0	2	8	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:65047044C>T	ENST00000265465.3	+	7	1222	c.691C>T	c.(691-693)Ctc>Ttc	p.L231F	POLA2_ENST00000541089.1_Missense_Mutation_p.L23F	NM_002689.2	NP_002680.2	Q14181	DPOA2_HUMAN	polymerase (DNA directed), alpha 2, accessory subunit	231					DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA strand elongation involved in DNA replication (GO:0006271)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|protein import into nucleus, translocation (GO:0000060)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)	alpha DNA polymerase:primase complex (GO:0005658)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|protein heterodimerization activity (GO:0046982)			endometrium(1)|large_intestine(2)|lung(7)|urinary_tract(1)	11					Dacarbazine(DB00851)	TGGCAGCGAACTCAAGGAACA	0.358																																						ENST00000265465.3																			0				endometrium(1)|large_intestine(2)|lung(7)|urinary_tract(1)	11						c.(691-693)Ctc>Ttc		polymerase (DNA directed), alpha 2, accessory subunit	Dacarbazine(DB00851)						143	136	139					11																	65047044		2201	4297	6498	SO:0001583	missense	23649				DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	nucleoplasm	DNA binding	g.chr11:65047044C>T	BC002990	CCDS8098.1	11q13	2012-05-18	2012-05-18		ENSG00000014138	ENSG00000014138		"DNA polymerases"	30073	protein-coding gene	gene with protein product	"DNA polymerase alpha subunit B", "DNA polymerase alpha 70 kDa subunit"		"polymerase (DNA directed), alpha 2 (70kD subunit)"			8223465, 11433027	Standard	NM_002689		Approved	FLJ21662	uc001odj.3	Q14181	OTTHUMG00000165951	ENST00000265465.3:c.691C>T	11.37:g.65047044C>T	ENSP00000265465:p.Leu231Phe					POLA2_ENST00000541089.1_Missense_Mutation_p.L23F	p.L231F	NM_002689.2	NP_002680.2	Q14181	DPOA2_HUMAN			7	1222	+			231					B4DNB4|Q9BPV3	Missense_Mutation	SNP	ENST00000265465.3	37	c.691C>T	CCDS8098.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.330925	0.81690	.	.	ENSG00000014138	ENST00000265465;ENST00000541089	T	0.25749	1.78	5.76	5.76	0.90799	DNA polymerase alpha, subunit B N-terminal (1);	0.064956	0.64402	D	0.000009	T	0.50684	0.1630	M	0.72894	2.215	0.58432	D	0.999998	D;D	0.89917	0.999;1.0	D;D	0.91635	0.983;0.999	T	0.31475	-0.9942	10	0.28530	T	0.3	-24.6231	17.464	0.87627	0.0:1.0:0.0:0.0	.	23;231	B4DNB4;Q14181	.;DPOA2_HUMAN	F	231;23	ENSP00000265465:L231F	ENSP00000265465:L231F	L	+	1	0	POLA2	64803620	1.000000	0.71417	1.000000	0.80357	0.897000	0.52465	3.608000	0.54109	2.724000	0.93272	0.491000	0.48974	CTC		0.358	POLA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387223.1	NM_002689		61	69	0	0	0	1	0	61	69					T	65047044	C	T	65047044	3	4	435	1	0	0	0	0	1	0	0	0	12188	565	20	3	717	3	POLA2	11	65047044	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	72929	65047044	69959472	5232	26157											
CDC42EP2	10435	broad.mit.edu	37	chr11	65088567	65088567	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggcaagttccacctcctgccGgggaccatggtggaggggcc	6	6	16	13	1	0	0	0	0	0	0	2	2	2	2	6	7	1	2	6	7	1	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:65088567G>A	ENST00000544348.1	+	2	804	c.198G>A	c.(196-198)ccG>ccA	p.P66P	CDC42EP2_ENST00000279249.2_Silent_p.P66P|CDC42EP2_ENST00000533419.1_Silent_p.P66P			O14613	BORG1_HUMAN	CDC42 effector protein (Rho GTPase binding) 2	66					actin cytoskeleton organization (GO:0030036)|actin filament organization (GO:0007015)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of protein complex assembly (GO:0031334)|positive regulation of pseudopodium assembly (GO:0031274)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|plasma membrane (GO:0005886)	GTP-Rho binding (GO:0017049)|Rho GTPase activator activity (GO:0005100)			lung(1)	1						ACCTCCTGCCGGGGACCATGG	0.652																																						ENST00000544348.1																			0				lung(1)	1						c.(196-198)ccG>ccA		CDC42 effector protein (Rho GTPase binding) 2							74	72	73					11																	65088567		2201	4297	6498	SO:0001819	synonymous_variant	10435				actin filament organization|positive regulation of actin filament polymerization|positive regulation of pseudopodium assembly|regulation of cell shape	cytoplasm|cytoskeleton|endomembrane system|plasma membrane	GTP-Rho binding|Rho GTPase activator activity	g.chr11:65088567G>A	AF098290	CCDS8099.1	11q13	2008-07-18				ENSG00000149798			16263	protein-coding gene	gene with protein product	"CRIB-containing BOGR1 protein"	606132				10490598, 11035016	Standard	NM_006779		Approved	CEP2, BORG1	uc001odl.3	O14613		ENST00000544348.1:c.198G>A	11.37:g.65088567G>A						CDC42EP2_ENST00000279249.2_Silent_p.P66P|CDC42EP2_ENST00000533419.1_Silent_p.P66P	p.P66P			O14613	BORG1_HUMAN			2	804	+			66					B2RD85|Q9UNS0	Silent	SNP	ENST00000544348.1	37	c.198G>A	CCDS8099.1																																																																																				0.652	CDC42EP2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387258.1	NM_006779		20	41	0	0	0	1	0	20	41					A	65088567	G	A	65088567	2	1	435	1	0	0	0	0	0	0	0	1	3076	1103	39	2		2	CDC42EP2	11	65088567	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	41523	65088567	69917949	5233	26158											
TIGD3	220359	broad.mit.edu	37	chr11	65123835	65123835	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ccttgctgtatcgggcagtgCccggcagctttggtgcatgt	4	12	14	11	2	0	0	0	0	0	0	1	0	0	0	2	3	4	6	2	3	1	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:65123835C>T	ENST00000309880.5	+	2	763	c.556C>T	c.(556-558)Ccc>Tcc	p.P186S		NM_145719.2	NP_663771.1	Q6B0B8	TIGD3_HUMAN	tigger transposable element derived 3	186	DDE.					nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(3)|large_intestine(1)|lung(9)|prostate(2)|skin(2)	17						TCGGGCAGTGCCCGGCAGCTT	0.602																																						ENST00000309880.5																			0				endometrium(3)|large_intestine(1)|lung(9)|prostate(2)|skin(2)	17						c.(556-558)Ccc>Tcc		tigger transposable element derived 3							110	118	115					11																	65123835		2201	4297	6498	SO:0001583	missense	220359				regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	DNA binding	g.chr11:65123835C>T		CCDS8101.1	11q13.1	2008-07-21				ENSG00000173825			18334	protein-coding gene	gene with protein product							Standard	NM_145719		Approved		uc001odo.4	Q6B0B8		ENST00000309880.5:c.556C>T	11.37:g.65123835C>T	ENSP00000308354:p.Pro186Ser						p.P186S	NM_145719.2	NP_663771.1	Q6B0B8	TIGD3_HUMAN			2	763	+			186			DDE.			Missense_Mutation	SNP	ENST00000309880.5	37	c.556C>T	CCDS8101.1	.	.	.	.	.	.	.	.	.	.	C	18.61	3.661026	0.67700	.	.	ENSG00000173825	ENST00000309880	T	0.44482	0.92	4.0	4.0	0.46444	.	0.000000	0.34025	N	0.004323	T	0.57902	0.2085	L	0.58810	1.83	0.32422	N	0.549173	D	0.89917	1.0	D	0.87578	0.998	T	0.66272	-0.5965	10	0.56958	D	0.05	-10.301	11.8499	0.52405	0.0:1.0:0.0:0.0	.	186	Q6B0B8	TIGD3_HUMAN	S	186	ENSP00000308354:P186S	ENSP00000308354:P186S	P	+	1	0	TIGD3	64880411	1.000000	0.71417	0.998000	0.56505	0.926000	0.56050	3.704000	0.54815	2.260000	0.74910	0.456000	0.33151	CCC		0.602	TIGD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387310.1	NM_145719		74	95	0	0	0	1	0	74	95					T	65123835	C	T	65123835	3	4	435	1	0	0	0	0	1	0	0	0	15894	739	26	3	558	3	TIGD3	11	65123835	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	35268	65123835	69882681	5234	26159											
SLC25A45	283130	broad.mit.edu	37	chr11	65144483	65144483	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gtggggggctccctggctggGcccttggctctgtctggttt	0	13	17	11	0	2	0	0	0	2	0	3	0	3	0	2	7	0	4	2	7	0	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:65144483G>A	ENST00000527174.1	-	5	459	c.404C>T	c.(403-405)gCc>gTc	p.A135V	SLC25A45_ENST00000377152.2_Missense_Mutation_p.A31V|RP11-867O8.5_ENST00000533886.1_RNA|SLC25A45_ENST00000360662.3_Missense_Mutation_p.A111V|SLC25A45_ENST00000526432.1_Missense_Mutation_p.A73V|SLC25A45_ENST00000294187.6_Missense_Mutation_p.A93V|SLC25A45_ENST00000534028.1_Missense_Mutation_p.A111V|SLC25A45_ENST00000417511.2_Missense_Mutation_p.A93V|SLC25A45_ENST00000398802.1_Missense_Mutation_p.A135V			Q8N413	S2545_HUMAN	solute carrier family 25, member 45	135					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)				endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	14						CCCTGGCTGGGCCCTTGGCTC	0.662																																						ENST00000417511.2																			0				endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	14						c.(277-279)gCc>gTc		solute carrier family 25, member 45							26	30	29					11																	65144483		1817	4077	5894	SO:0001583	missense	283130				transmembrane transport	integral to membrane|mitochondrial inner membrane	binding	g.chr11:65144483G>A	BC041100	CCDS41670.1, CCDS41671.1, CCDS60850.1	11q13.1	2013-05-22			ENSG00000162241	ENSG00000162241		"Solute carriers"	27442	protein-coding gene	gene with protein product		610825				16949250	Standard	XM_006718507		Approved		uc001odr.1	Q8N413	OTTHUMG00000166255	ENST00000527174.1:c.404C>T	11.37:g.65144483G>A	ENSP00000435489:p.Ala135Val					SLC25A45_ENST00000377152.2_Missense_Mutation_p.A31V|SLC25A45_ENST00000526432.1_Missense_Mutation_p.A73V|SLC25A45_ENST00000534028.1_Missense_Mutation_p.A111V|SLC25A45_ENST00000398802.1_Missense_Mutation_p.A135V|SLC25A45_ENST00000360662.3_Missense_Mutation_p.A111V|SLC25A45_ENST00000294187.6_Missense_Mutation_p.A93V|SLC25A45_ENST00000527174.1_Missense_Mutation_p.A135V	p.A93V	NM_001278251.1	NP_001265180.1	Q8N413	S2545_HUMAN			9	1412	-			135					Q6PL49|Q8IW29	Missense_Mutation	SNP	ENST00000527174.1	37	c.278C>T	CCDS41670.1	.	.	.	.	.	.	.	.	.	.	G	7.480	0.648555	0.14516	.	.	ENSG00000162241	ENST00000527174;ENST00000534028;ENST00000398802;ENST00000360662;ENST00000377152;ENST00000294187;ENST00000417511;ENST00000526432	T;T;T;T;T;T;T;T	0.79352	-1.26;-1.26;-1.26;-1.26;-1.26;-1.26;-1.26;-1.26	5.23	-0.0427	0.13862	Mitochondrial carrier domain (2);	1.499530	0.03894	N	0.279246	T	0.60534	0.2276	N	0.12182	0.205	0.09310	N	1	B;B;B	0.10296	0.002;0.001;0.003	B;B;B	0.16289	0.01;0.008;0.015	T	0.43988	-0.9357	10	0.30078	T	0.28	0.0231	6.0682	0.19875	0.2856:0.1319:0.5825:0.0	.	73;111;135	E9PJQ3;Q8N413-4;Q8N413	.;.;S2545_HUMAN	V	135;111;135;111;31;93;93;73	ENSP00000435489:A135V;ENSP00000431769:A111V;ENSP00000381782:A135V;ENSP00000353879:A111V;ENSP00000366357:A31V;ENSP00000294187:A93V;ENSP00000407530:A93V;ENSP00000435547:A73V	ENSP00000294187:A93V	A	-	2	0	SLC25A45	64901059	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.105000	0.15333	-0.182000	0.10602	0.561000	0.74099	GCC		0.662	SLC25A45-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388744.3	NM_182556		5	30	0	0	0	1	0	5	30					A	65144483	G	A	65144483	3	1	435	1	0	0	0	0	1	0	0	0	14510	1203	42	3	470	3	SLC25A45	11	65144483	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	20648	65144483	69862033	5235	26160											
SCYL1	57410	broad.mit.edu	37	chr11	65298235	65298235	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agttcggcaatgctggggccGttgtcctcacgcccctcttc	4	11	11	15	3	2	0	1	0	1	0	5	0	3	0	4	3	1	4	4	3	1	3	rs201604417		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:65298235G>A	ENST00000270176.5	+	7	1062	c.985G>A	c.(985-987)Gtt>Att	p.V329I	SCYL1_ENST00000533862.1_Missense_Mutation_p.V329I|SCYL1_ENST00000279270.6_Missense_Mutation_p.V329I|SCYL1_ENST00000524944.1_Missense_Mutation_p.V329I|SCYL1_ENST00000420247.2_Missense_Mutation_p.V329I|SCYL1_ENST00000527009.1_Missense_Mutation_p.V186I|SCYL1_ENST00000525364.1_Missense_Mutation_p.V329I	NM_020680.3	NP_065731.3	Q96KG9	NTKL_HUMAN	SCY1-like 1 (S. cerevisiae)	329					peptidyl-tyrosine phosphorylation (GO:0018108)|regulation of transcription, DNA-templated (GO:0006355)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|transcription, DNA-templated (GO:0006351)	cis-Golgi network (GO:0005801)|COPI vesicle coat (GO:0030126)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|protein tyrosine kinase activity (GO:0004713)	p.V329I(1)		ovary(1)|skin(1)	2						TGCTGGGGCCGTTGTCCTCAC	0.622																																						ENST00000524944.1																			1	Substitution - Missense(1)	p.V329I(1)	large_intestine(1)	ovary(1)|skin(1)	2						c.(985-987)Gtt>Att		SCY1-like 1 (S. cerevisiae)		G	ILE/VAL,ILE/VAL	0,3932		0,0,1966	57	60	59		985,985	5.6	1	11		59	1,8271		0,1,4135	yes	missense,missense	SCYL1	NM_001048218.1,NM_020680.3	29,29	0,1,6101	AA,AG,GG		0.0121,0.0,0.0082	possibly-damaging,possibly-damaging	329/792,329/809	65298235	1,12203	1966	4136	6102	SO:0001583	missense	57410				regulation of transcription, DNA-dependent|retrograde vesicle-mediated transport, Golgi to ER|transcription, DNA-dependent	cis-Golgi network|COPI vesicle coat|ER-Golgi intermediate compartment|microtubule organizing center|nucleus	ATP binding|DNA binding|protein tyrosine kinase activity	g.chr11:65298235G>A	AF225424	CCDS41672.1, CCDS44646.1	11q11-q12	2008-07-21	2002-11-26	2002-11-29	ENSG00000142186	ENSG00000142186			14372	protein-coding gene	gene with protein product	"teratoma-associated tyrosine kinase", "telomerase transcriptional elements-interacting factor", "telomerase regulation-associated protein"	607982	"N-terminal kinase-like"	NTKL		11118629	Standard	NM_020680		Approved	HT019, P105, GKLP, NKTL, TAPK, TRAP, TEIF, MGC78454	uc001oea.1	Q96KG9	OTTHUMG00000166325	ENST00000270176.5:c.985G>A	11.37:g.65298235G>A	ENSP00000270176:p.Val329Ile					SCYL1_ENST00000270176.5_Missense_Mutation_p.V329I|SCYL1_ENST00000533862.1_Missense_Mutation_p.V329I|SCYL1_ENST00000279270.6_Missense_Mutation_p.V329I|SCYL1_ENST00000527630.1_Missense_Mutation_p.V329I|SCYL1_ENST00000420247.2_Missense_Mutation_p.V329I|SCYL1_ENST00000527009.1_Missense_Mutation_p.V186I|SCYL1_ENST00000525364.1_Missense_Mutation_p.V329I	p.V329I			Q96KG9	NTKL_HUMAN			7	1018	+			329					A6NJF1|Q96G50|Q96KG8|Q96KH1|Q9HAW5|Q9HBL3|Q9NR53	Missense_Mutation	SNP	ENST00000270176.5	37	c.985G>A	CCDS41672.1	.	.	.	.	.	.	.	.	.	.	G	14.41	2.528262	0.44969	0.0	1.21E-4	ENSG00000142186	ENST00000270176;ENST00000525364;ENST00000420247;ENST00000533862;ENST00000527630;ENST00000349495;ENST00000279270;ENST00000524944;ENST00000527009	T;T;T;T;T;T;T;T	0.31769	1.48;1.48;1.48;1.48;1.48;1.48;1.48;1.48	5.57	5.57	0.84162	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.43366	0.1244	M	0.68952	2.095	0.80722	D	1	B;P;P;D	0.56746	0.165;0.954;0.954;0.977	B;P;P;B	0.49752	0.056;0.621;0.519;0.417	T	0.25293	-1.0136	10	0.38643	T	0.18	-15.9551	17.0326	0.86465	0.0:0.0:1.0:0.0	.	329;329;329;329	E9PS17;Q96KG9-6;Q96KG9-2;Q96KG9	.;.;.;NTKL_HUMAN	I	329;329;329;329;329;329;329;329;186	ENSP00000270176:V329I;ENSP00000431635:V329I;ENSP00000408192:V329I;ENSP00000437254:V329I;ENSP00000433450:V329I;ENSP00000279270:V329I;ENSP00000432175:V329I;ENSP00000436993:V186I	ENSP00000270176:V329I	V	+	1	0	SCYL1	65054811	1.000000	0.71417	0.951000	0.38953	0.329000	0.28539	6.582000	0.74049	2.623000	0.88846	0.561000	0.74099	GTT		0.622	SCYL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389159.2	NM_020680		26	42	0	0	0	1	0	26	42					A	65298235	G	A	65298235	3	1	435	1	0	0	0	0	1	0	0	0	13947	1145	40	1	1011	1	SCYL1	11	65298235	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	153752	65298235	69708281	5236	26161											
SCYL1	57410	broad.mit.edu	37	chr11	65302765	65302765	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggagctgatgaagcactttgCacggctacaggccaaggatg	11	7	14	9	1	0	2	0	2	0	0	0	4	0	4	1	4	4	4	1	4	3	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:65302765C>T	ENST00000270176.5	+	10	1375	c.1298C>T	c.(1297-1299)gCa>gTa	p.A433V	SCYL1_ENST00000533862.1_Missense_Mutation_p.A433V|SCYL1_ENST00000279270.6_Missense_Mutation_p.A433V|SCYL1_ENST00000524944.1_Missense_Mutation_p.A433V|SCYL1_ENST00000420247.2_Missense_Mutation_p.A433V|SCYL1_ENST00000527009.1_Missense_Mutation_p.A290V|SCYL1_ENST00000525364.1_Missense_Mutation_p.A433V	NM_020680.3	NP_065731.3	Q96KG9	NTKL_HUMAN	SCY1-like 1 (S. cerevisiae)	433					peptidyl-tyrosine phosphorylation (GO:0018108)|regulation of transcription, DNA-templated (GO:0006355)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|transcription, DNA-templated (GO:0006351)	cis-Golgi network (GO:0005801)|COPI vesicle coat (GO:0030126)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|protein tyrosine kinase activity (GO:0004713)			ovary(1)|skin(1)	2						AAGCACTTTGCACGGCTACAG	0.582																																						ENST00000524944.1																			0				ovary(1)|skin(1)	2						c.(1297-1299)gCa>gTa		SCY1-like 1 (S. cerevisiae)							121	125	124					11																	65302765		2168	4260	6428	SO:0001583	missense	57410				regulation of transcription, DNA-dependent|retrograde vesicle-mediated transport, Golgi to ER|transcription, DNA-dependent	cis-Golgi network|COPI vesicle coat|ER-Golgi intermediate compartment|microtubule organizing center|nucleus	ATP binding|DNA binding|protein tyrosine kinase activity	g.chr11:65302765C>T	AF225424	CCDS41672.1, CCDS44646.1	11q11-q12	2008-07-21	2002-11-26	2002-11-29	ENSG00000142186	ENSG00000142186			14372	protein-coding gene	gene with protein product	"teratoma-associated tyrosine kinase", "telomerase transcriptional elements-interacting factor", "telomerase regulation-associated protein"	607982	"N-terminal kinase-like"	NTKL		11118629	Standard	NM_020680		Approved	HT019, P105, GKLP, NKTL, TAPK, TRAP, TEIF, MGC78454	uc001oea.1	Q96KG9	OTTHUMG00000166325	ENST00000270176.5:c.1298C>T	11.37:g.65302765C>T	ENSP00000270176:p.Ala433Val					SCYL1_ENST00000270176.5_Missense_Mutation_p.A433V|SCYL1_ENST00000533862.1_Missense_Mutation_p.A433V|SCYL1_ENST00000279270.6_Missense_Mutation_p.A433V|SCYL1_ENST00000527630.1_Missense_Mutation_p.A433V|SCYL1_ENST00000420247.2_Missense_Mutation_p.A433V|SCYL1_ENST00000527009.1_Missense_Mutation_p.A290V|SCYL1_ENST00000525364.1_Missense_Mutation_p.A433V	p.A433V			Q96KG9	NTKL_HUMAN			10	1331	+			433					A6NJF1|Q96G50|Q96KG8|Q96KH1|Q9HAW5|Q9HBL3|Q9NR53	Missense_Mutation	SNP	ENST00000270176.5	37	c.1298C>T	CCDS41672.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.982952	0.74474	.	.	ENSG00000142186	ENST00000270176;ENST00000525364;ENST00000420247;ENST00000533862;ENST00000527630;ENST00000349495;ENST00000279270;ENST00000524944;ENST00000527009	T;T;T;T;T;T;T;T	0.29655	1.56;1.56;1.56;1.56;1.56;1.56;1.56;1.56	4.64	4.64	0.57946	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.44307	0.1287	M	0.81682	2.555	0.80722	D	1	B;P;B;B;P	0.43287	0.376;0.802;0.317;0.107;0.558	B;P;B;B;B	0.45343	0.213;0.477;0.177;0.127;0.213	T	0.53143	-0.8480	10	0.62326	D	0.03	-6.6531	14.9939	0.71415	0.0:1.0:0.0:0.0	.	433;433;433;433;433	E9PS17;Q96KG9-4;Q96KG9-6;Q96KG9-2;Q96KG9	.;.;.;.;NTKL_HUMAN	V	433;433;433;433;433;433;433;433;290	ENSP00000270176:A433V;ENSP00000431635:A433V;ENSP00000408192:A433V;ENSP00000437254:A433V;ENSP00000433450:A433V;ENSP00000279270:A433V;ENSP00000432175:A433V;ENSP00000436993:A290V	ENSP00000270176:A433V	A	+	2	0	SCYL1	65059341	0.991000	0.36638	0.979000	0.43373	0.944000	0.59088	4.125000	0.57931	2.138000	0.66242	0.313000	0.20887	GCA		0.582	SCYL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389159.2	NM_020680		7	56	0	0	0	1	0	7	56					T	65302765	C	T	65302765	3	4	435	1	0	0	0	0	1	0	0	0	13947	710	25	3	1336	3	SCYL1	11	65302765	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	4530	65302765	69703751	5237	26162											
SCYL1	57410	broad.mit.edu	37	chr11	65303494	65303494	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtttgcaccgtcccgggttgCgggtgtcctgggctttgctg	1	13	16	11	3	0	0	0	0	0	0	2	0	2	0	3	3	3	5	3	3	0	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:65303494C>T	ENST00000270176.5	+	11	1534	c.1457C>T	c.(1456-1458)gCg>gTg	p.A486V	SCYL1_ENST00000533862.1_Missense_Mutation_p.A486V|SCYL1_ENST00000279270.6_Missense_Mutation_p.A486V|SCYL1_ENST00000524944.1_Missense_Mutation_p.A486V|SCYL1_ENST00000420247.2_Missense_Mutation_p.A486V|SCYL1_ENST00000527009.1_Missense_Mutation_p.A343V|SCYL1_ENST00000525364.1_Missense_Mutation_p.A486V	NM_020680.3	NP_065731.3	Q96KG9	NTKL_HUMAN	SCY1-like 1 (S. cerevisiae)	486					peptidyl-tyrosine phosphorylation (GO:0018108)|regulation of transcription, DNA-templated (GO:0006355)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|transcription, DNA-templated (GO:0006351)	cis-Golgi network (GO:0005801)|COPI vesicle coat (GO:0030126)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|protein tyrosine kinase activity (GO:0004713)			ovary(1)|skin(1)	2						TCCCGGGTTGCGGGTGTCCTG	0.597																																						ENST00000524944.1																			0				ovary(1)|skin(1)	2						c.(1456-1458)gCg>gTg		SCY1-like 1 (S. cerevisiae)							76	77	77					11																	65303494		1911	4117	6028	SO:0001583	missense	57410				regulation of transcription, DNA-dependent|retrograde vesicle-mediated transport, Golgi to ER|transcription, DNA-dependent	cis-Golgi network|COPI vesicle coat|ER-Golgi intermediate compartment|microtubule organizing center|nucleus	ATP binding|DNA binding|protein tyrosine kinase activity	g.chr11:65303494C>T	AF225424	CCDS41672.1, CCDS44646.1	11q11-q12	2008-07-21	2002-11-26	2002-11-29	ENSG00000142186	ENSG00000142186			14372	protein-coding gene	gene with protein product	"teratoma-associated tyrosine kinase", "telomerase transcriptional elements-interacting factor", "telomerase regulation-associated protein"	607982	"N-terminal kinase-like"	NTKL		11118629	Standard	NM_020680		Approved	HT019, P105, GKLP, NKTL, TAPK, TRAP, TEIF, MGC78454	uc001oea.1	Q96KG9	OTTHUMG00000166325	ENST00000270176.5:c.1457C>T	11.37:g.65303494C>T	ENSP00000270176:p.Ala486Val					SCYL1_ENST00000270176.5_Missense_Mutation_p.A486V|SCYL1_ENST00000533862.1_Missense_Mutation_p.A486V|SCYL1_ENST00000279270.6_Missense_Mutation_p.A486V|SCYL1_ENST00000527630.1_Missense_Mutation_p.A486V|SCYL1_ENST00000420247.2_Missense_Mutation_p.A486V|SCYL1_ENST00000527009.1_Missense_Mutation_p.A343V|SCYL1_ENST00000525364.1_Missense_Mutation_p.A486V	p.A486V			Q96KG9	NTKL_HUMAN			11	1490	+			486					A6NJF1|Q96G50|Q96KG8|Q96KH1|Q9HAW5|Q9HBL3|Q9NR53	Missense_Mutation	SNP	ENST00000270176.5	37	c.1457C>T	CCDS41672.1	.	.	.	.	.	.	.	.	.	.	C	35	5.551191	0.96501	.	.	ENSG00000142186	ENST00000270176;ENST00000525364;ENST00000420247;ENST00000533862;ENST00000527630;ENST00000349495;ENST00000279270;ENST00000524944;ENST00000527009	T;T;T;T;T;T;T;T	0.36699	1.24;1.24;1.24;1.24;1.24;1.24;1.24;1.24	5.46	5.46	0.80206	Armadillo-like helical (1);Armadillo-type fold (1);	0.118682	0.56097	D	0.000032	T	0.67906	0.2943	M	0.89904	3.07	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.987;0.999;0.999;0.998;0.995	T	0.74805	-0.3540	10	0.72032	D	0.01	-11.0911	16.7806	0.85562	0.0:1.0:0.0:0.0	.	486;486;486;486;486	E9PS17;Q96KG9-4;Q96KG9-6;Q96KG9-2;Q96KG9	.;.;.;.;NTKL_HUMAN	V	486;486;486;486;486;486;486;486;343	ENSP00000270176:A486V;ENSP00000431635:A486V;ENSP00000408192:A486V;ENSP00000437254:A486V;ENSP00000433450:A486V;ENSP00000279270:A486V;ENSP00000432175:A486V;ENSP00000436993:A343V	ENSP00000270176:A486V	A	+	2	0	SCYL1	65060070	1.000000	0.71417	0.985000	0.45067	0.871000	0.50021	6.864000	0.75494	2.577000	0.86979	0.462000	0.41574	GCG		0.597	SCYL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389159.2	NM_020680		11	43	0	0	0	1	0	11	43					T	65303494	C	T	65303494	3	4	435	1	0	0	0	0	1	0	0	0	13947	768	27	1	1499	1	SCYL1	11	65303494	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	729	65303494	69703022	5238	26163											
LTBP3	4054	broad.mit.edu	37	chr11	65315230	65315230	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagtggcaattgtaggagcCgccggtgttcatgcagatgc	8	9	15	9	2	1	1	1	0	0	1	1	2	1	2	2	3	3	5	2	3	2	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:65315230C>T	ENST00000301873.5	-	13	2177	c.1909G>A	c.(1909-1911)Ggc>Agc	p.G637S	LTBP3_ENST00000322147.4_Missense_Mutation_p.G637S|LTBP3_ENST00000529189.1_5'Flank|LTBP3_ENST00000532932.1_Missense_Mutation_p.G67S|LTBP3_ENST00000536982.1_Missense_Mutation_p.G263S	NM_001130144.2	NP_001123616.1	Q9NS15	LTBP3_HUMAN	latent transforming growth factor beta binding protein 3	637	Cys-rich.|EGF-like 4; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				bone morphogenesis (GO:0060349)|bone remodeling (GO:0046849)|extracellular matrix organization (GO:0030198)|lung saccule development (GO:0060430)|negative regulation of bone mineralization (GO:0030502)|negative regulation of chondrocyte differentiation (GO:0032331)|positive regulation of bone resorption (GO:0045780)|positive regulation of mesenchymal stem cell differentiation (GO:2000741)|positive regulation of mesenchymal stem cell proliferation (GO:1902462)|transforming growth factor beta activation (GO:0036363)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|transforming growth factor beta binding (GO:0050431)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|prostate(2)|upper_aerodigestive_tract(3)	23						TTGTAGGAGCCGCCGGTGTTC	0.677																																						ENST00000301873.5																			0				breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|prostate(2)|upper_aerodigestive_tract(3)	23						c.(1909-1911)Ggc>Agc		latent transforming growth factor beta binding protein 3							12	15	14					11																	65315230		2197	4292	6489	SO:0001583	missense	4054					extracellular region	calcium ion binding|growth factor binding	g.chr11:65315230C>T	AF135960	CCDS8103.1, CCDS44647.1	11q12	2011-10-20			ENSG00000168056	ENSG00000168056		"Latent transforming growth factor, beta binding proteins"	6716	protein-coding gene	gene with protein product		602090		LTBP2		7719025	Standard	NM_001164266		Approved		uc001oej.3	Q9NS15	OTTHUMG00000166575	ENST00000301873.5:c.1909G>A	11.37:g.65315230C>T	ENSP00000301873:p.Gly637Ser					LTBP3_ENST00000322147.4_Missense_Mutation_p.G637S|LTBP3_ENST00000536982.1_Missense_Mutation_p.G263S|LTBP3_ENST00000532932.1_Missense_Mutation_p.G67S	p.G637S	NM_001130144.2	NP_001123616.1	Q9NS15	LTBP3_HUMAN			13	2177	-			637			Cys-rich.|EGF-like 4; calcium-binding (Potential).		O15107|Q96HB9|Q9H7K2|Q9UFN4	Missense_Mutation	SNP	ENST00000301873.5	37	c.1909G>A	CCDS44647.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	24.5|24.5	4.537721|4.537721	0.85917|0.85917	.|.	.|.	ENSG00000168056|ENSG00000168056	ENST00000322147;ENST00000301873;ENST00000532932;ENST00000536982;ENST00000530866|ENST00000526927	D;D;D;D;D|.	0.99552|.	-6.15;-6.15;-6.15;-6.15;-6.15|.	4.39|4.39	4.39|4.39	0.52855|0.52855	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.73583|0.73583	0.3605|0.3605	M|M	0.73962|0.73962	2.25|2.25	0.80722|0.80722	D|D	1|1	D;D;D;D;D;D|.	0.89917|.	1.0;1.0;1.0;1.0;1.0;1.0|.	D;D;D;D;D;D|.	0.97110|.	1.0;1.0;0.999;0.999;1.0;0.998|.	T|T	0.74819|0.74819	-0.3535|-0.3535	10|5	0.72032|.	D|.	0.01|.	.|.	14.4732|14.4732	0.67531|0.67531	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	548;263;520;637;637;67|.	E9PKW1;F5GWC4;B9EG76;Q9NS15;Q9NS15-2;E9PJR2|.	.;.;.;LTBP3_HUMAN;.;.|.	S|Q	637;637;67;263;548|287	ENSP00000326647:G637S;ENSP00000301873:G637S;ENSP00000435530:G67S;ENSP00000441912:G263S;ENSP00000435276:G548S|.	ENSP00000301873:G637S|.	G|R	-|-	1|2	0|0	LTBP3|LTBP3	65071806|65071806	1.000000|1.000000	0.71417|0.71417	0.847000|0.847000	0.33407|0.33407	0.418000|0.418000	0.31294|0.31294	7.113000|7.113000	0.77095|0.77095	2.272000|2.272000	0.75746|0.75746	0.313000|0.313000	0.20887|0.20887	GGC|CGG		0.677	LTBP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390538.1	NM_021070		9	5	0	0	0	1	0	9	5					T	65315230	C	T	65315230	3	4	435	1	0	0	0	0	1	0	0	0	9075	652	23	2	2066	2	LTBP3	11	65315230	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	11736	65315230	69691286	5239	26164											
FAM89B	23625	broad.mit.edu	37	chr11	65341082	65341082	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cacaatgcccgtgaccagtgGctgcaggatgccttccacat	9	8	10	14	1	0	1	0	1	0	0	1	2	1	2	4	2	3	2	4	2	1	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:65341082G>A	ENST00000530349.1	+	2	682	c.540G>A	c.(538-540)tgG>tgA	p.W180*	FAM89B_ENST00000316409.2_Nonsense_Mutation_p.W167*|EHBP1L1_ENST00000309295.4_5'Flank|FAM89B_ENST00000449319.2_3'UTR			Q8N5H3	FA89B_HUMAN	family with sequence similarity 89, member B	180					negative regulation of SMAD protein import into nucleus (GO:0060392)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)	cytoplasm (GO:0005737)	transcription corepressor binding (GO:0001222)			large_intestine(1)|urinary_tract(2)	3						GTGACCAGTGGCTGCAGGATG	0.652																																						ENST00000316409.2																			0				large_intestine(1)|urinary_tract(2)	3						c.(499-501)tgG>tgA		family with sequence similarity 89, member B							38	38	38					11																	65341082		2201	4297	6498	SO:0001587	stop_gained	23625							g.chr11:65341082G>A	AF052151	CCDS8105.1, CCDS44648.1, CCDS53662.1	11q23	2007-12-04				ENSG00000176973			16708	protein-coding gene	gene with protein product						9525630, 10512749	Standard	NM_152832		Approved		uc001oel.2	Q8N5H3		ENST00000530349.1:c.540G>A	11.37:g.65341082G>A	ENSP00000431459:p.Trp180*					FAM89B_ENST00000449319.2_3'UTR|FAM89B_ENST00000530349.1_Nonsense_Mutation_p.W180*	p.W167*	NM_001098784.1|NM_001098785.1|NM_152832.2	NP_001092254.1|NP_001092255.1|NP_690045.1	Q8N5H3	FA89B_HUMAN			2	822	+			167					E9PB01|E9PL72|Q6PJ27	Nonsense_Mutation	SNP	ENST00000530349.1	37	c.501G>A	CCDS53662.1	.	.	.	.	.	.	.	.	.	.	G	37	6.365841	0.97507	.	.	ENSG00000176973	ENST00000316409;ENST00000530349;ENST00000377088	.	.	.	4.72	4.72	0.59763	.	0.000000	0.33496	N	0.004859	.	.	.	.	.	.	0.58432	D	0.999993	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-5.3278	13.0472	0.58933	0.0:0.0:1.0:0.0	.	.	.	.	X	167;180;153	.	ENSP00000314829:W167X	W	+	3	0	FAM89B	65097658	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	6.584000	0.74057	2.454000	0.82982	0.561000	0.74099	TGG		0.652	FAM89B-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390095.1	NM_152832		13	28	0	0	0	1	0	13	28					A	65341082	G	A	65341082	4	1	435	1	0	0	0	0	0	1	0	0	5648	1212	42	3	556	3	FAM89B	11	65341082	Nonsense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	25852	65341082	69665434	5240	26165											
PCNXL3	399909	broad.mit.edu	37	chr11	65386062	65386062	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acctggccgtgcccctcgacGgcccctgcttgaaggtgggg	4	7	15	15	3	0	1	0	1	0	0	1	2	0	1	6	5	2	1	6	5	1	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:65386062G>A	ENST00000355703.3	+	6	1768	c.1229G>A	c.(1228-1230)cGg>cAg	p.R410Q		NM_032223.2	NP_115599.2	Q9H6A9	PCX3_HUMAN	pecanex-like 3 (Drosophila)	410						integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)	13						GCCCCTCGACGGCCCCTGCTT	0.652																																						ENST00000355703.3																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)	13						c.(1228-1230)cGg>cAg		pecanex-like 3 (Drosophila)							23	24	24					11																	65386062		1960	4139	6099	SO:0001583	missense	399909					integral to membrane		g.chr11:65386062G>A	BX640978	CCDS44650.1	11q12.1	2008-07-21			ENSG00000197136	ENSG00000197136			18760	protein-coding gene	gene with protein product						15146197	Standard	NM_032223		Approved	FLJ22427	uc001oey.2	Q9H6A9	OTTHUMG00000166539	ENST00000355703.3:c.1229G>A	11.37:g.65386062G>A	ENSP00000347931:p.Arg410Gln						p.R410Q	NM_032223.2	NP_115599.2	Q9H6A9	PCX3_HUMAN			6	1768	+			410					Q6MZN8	Missense_Mutation	SNP	ENST00000355703.3	37	c.1229G>A	CCDS44650.1	.	.	.	.	.	.	.	.	.	.	G	12.30	1.895426	0.33442	.	.	ENSG00000197136	ENST00000355703	T	0.01015	5.44	5.0	1.87	0.25490	.	0.283137	0.18832	N	0.129951	T	0.00754	0.0025	L	0.32530	0.975	0.20403	N	0.999904	B	0.02656	0.0	B	0.01281	0.0	T	0.48317	-0.9046	10	0.12766	T	0.61	.	4.8293	0.13432	0.1955:0.176:0.6285:0.0	.	410	Q9H6A9	PCX3_HUMAN	Q	410	ENSP00000347931:R410Q	ENSP00000347931:R410Q	R	+	2	0	PCNXL3	65142638	0.271000	0.24162	0.614000	0.29051	0.892000	0.51952	2.306000	0.43673	0.511000	0.28236	0.462000	0.41574	CGG		0.652	PCNXL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390321.1	NM_032223		8	8	0	0	0	1	0	8	8					A	65386062	G	A	65386062	3	1	435	1	0	0	0	0	1	0	0	0	11593	1116	39	2	1251	2	PCNXL3	11	65386062	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	44980	65386062	69620454	5241	26166											
PCNXL3	399909	broad.mit.edu	37	chr11	65392916	65392916	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgttccctgagctggaggagCgcagcttggagacagcccgg	7	7	16	11	2	0	2	0	1	0	1	1	5	1	4	2	4	4	4	2	4	0	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:65392916C>T	ENST00000355703.3	+	18	3609	c.3070C>T	c.(3070-3072)Cgc>Tgc	p.R1024C		NM_032223.2	NP_115599.2	Q9H6A9	PCX3_HUMAN	pecanex-like 3 (Drosophila)	1024						integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)	13						GCTGGAGGAGCGCAGCTTGGA	0.711																																						ENST00000355703.3																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)	13						c.(3070-3072)Cgc>Tgc		pecanex-like 3 (Drosophila)							25	30	29					11																	65392916		1955	4126	6081	SO:0001583	missense	399909					integral to membrane		g.chr11:65392916C>T	BX640978	CCDS44650.1	11q12.1	2008-07-21			ENSG00000197136	ENSG00000197136			18760	protein-coding gene	gene with protein product						15146197	Standard	NM_032223		Approved	FLJ22427	uc001oey.2	Q9H6A9	OTTHUMG00000166539	ENST00000355703.3:c.3070C>T	11.37:g.65392916C>T	ENSP00000347931:p.Arg1024Cys						p.R1024C	NM_032223.2	NP_115599.2	Q9H6A9	PCX3_HUMAN			18	3609	+			1024					Q6MZN8	Missense_Mutation	SNP	ENST00000355703.3	37	c.3070C>T	CCDS44650.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.012912	0.75161	.	.	ENSG00000197136	ENST00000355703	T	0.07688	3.17	4.82	3.87	0.44632	.	.	.	.	.	T	0.17238	0.0414	L	0.44542	1.39	0.45662	D	0.998583	D	0.76494	0.999	P	0.62089	0.898	T	0.00601	-1.1650	9	0.72032	D	0.01	.	10.5674	0.45181	0.0:0.8045:0.1955:0.0	.	1024	Q9H6A9	PCX3_HUMAN	C	1024	ENSP00000347931:R1024C	ENSP00000347931:R1024C	R	+	1	0	PCNXL3	65149492	1.000000	0.71417	1.000000	0.80357	0.933000	0.57130	1.130000	0.31393	1.202000	0.43218	0.655000	0.94253	CGC		0.711	PCNXL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390321.1	NM_032223		15	27	0	0	0	1	0	15	27					T	65392916	C	T	65392916	3	4	435	1	0	0	0	0	1	0	0	0	11593	768	27	1	3140	1	PCNXL3	11	65392916	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	6854	65392916	69613600	5242	26167											
PCNXL3	399909	broad.mit.edu	37	chr11	65393124	65393124	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtctctcctggccctgcagcGtgaggtcttgcactccgacc	4	10	11	16	2	2	1	0	1	2	0	5	2	4	1	4	2	3	2	4	2	0	1	rs548248348	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:65393124G>A	ENST00000355703.3	+	19	3676	c.3137G>A	c.(3136-3138)cGt>cAt	p.R1046H		NM_032223.2	NP_115599.2	Q9H6A9	PCX3_HUMAN	pecanex-like 3 (Drosophila)	1046						integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)	13						GCCCTGCAGCGTGAGGTCTTG	0.622													G|||	2	0.000399361	0	0	5008	,	,		12862	0.002		0	False		,,,				2504	0					ENST00000355703.3																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)	13						c.e19-1		pecanex-like 3 (Drosophila)							65	60	62					11																	65393124		2195	4275	6470	SO:0001630	splice_region_variant	399909					integral to membrane		g.chr11:65393124G>A	BX640978	CCDS44650.1	11q12.1	2008-07-21			ENSG00000197136	ENSG00000197136			18760	protein-coding gene	gene with protein product						15146197	Standard	NM_032223		Approved	FLJ22427	uc001oey.2	Q9H6A9	OTTHUMG00000166539	ENST00000355703.3:c.3136-1G>A	11.37:g.65393124G>A							p.R1046_splice	NM_032223.2	NP_115599.2	Q9H6A9	PCX3_HUMAN			19	3676	+			1046					Q6MZN8	Splice_Site	SNP	ENST00000355703.3	37	c.3135_splice	CCDS44650.1	.	.	.	.	.	.	.	.	.	.	G	17.76	3.468682	0.63625	.	.	ENSG00000197136	ENST00000355703	T	0.07021	3.23	5.34	4.42	0.53409	.	.	.	.	.	T	0.06872	0.0175	N	0.19112	0.55	0.30541	N	0.766476	D	0.62365	0.991	P	0.46299	0.511	T	0.07328	-1.0778	9	0.33940	T	0.23	.	7.2073	0.25915	0.1834:0.0:0.8166:0.0	.	1046	Q9H6A9	PCX3_HUMAN	H	1046	ENSP00000347931:R1046H	ENSP00000347931:R1046H	R	+	2	0	PCNXL3	65149700	0.989000	0.36119	0.998000	0.56505	0.324000	0.28378	2.061000	0.41403	2.522000	0.85027	0.655000	0.94253	CGT		0.622	PCNXL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390321.1	NM_032223	Missense_Mutation	4	14	0	0	0	1	0	4	14					A	65393124	G	A	65393124	5	1	435	1	0	0	0	0	0	0	1	0	11593	1159	40	1	3211	1	PCNXL3	11	65393124	Splice_Site	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	208	65393124	69613392	5243	26168											
PCNXL3	399909	broad.mit.edu	37	chr11	65396390	65396390	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ttcatcatgtcctacgctcgGcccctcaagttctgggagcg	6	11	10	14	3	4	0	3	0	1	0	6	1	5	1	3	2	2	2	3	2	2	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:65396390G>A	ENST00000355703.3	+	24	4451	c.3912G>A	c.(3910-3912)cgG>cgA	p.R1304R		NM_032223.2	NP_115599.2	Q9H6A9	PCX3_HUMAN	pecanex-like 3 (Drosophila)	1304						integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)	13						CCTACGCTCGGCCCCTCAAGT	0.632																																						ENST00000355703.3																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)	13						c.(3910-3912)cgG>cgA		pecanex-like 3 (Drosophila)							34	35	35					11																	65396390		2029	4180	6209	SO:0001819	synonymous_variant	399909					integral to membrane		g.chr11:65396390G>A	BX640978	CCDS44650.1	11q12.1	2008-07-21			ENSG00000197136	ENSG00000197136			18760	protein-coding gene	gene with protein product						15146197	Standard	NM_032223		Approved	FLJ22427	uc001oey.2	Q9H6A9	OTTHUMG00000166539	ENST00000355703.3:c.3912G>A	11.37:g.65396390G>A							p.R1304R	NM_032223.2	NP_115599.2	Q9H6A9	PCX3_HUMAN			24	4451	+			1304					Q6MZN8	Silent	SNP	ENST00000355703.3	37	c.3912G>A	CCDS44650.1																																																																																				0.632	PCNXL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390321.1	NM_032223		3	20	0	0	0	1	0	3	20					A	65396390	G	A	65396390	2	1	435	1	0	0	0	0	0	0	0	1	11593	1190	42	3		3	PCNXL3	11	65396390	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	3266	65396390	69610126	5244	26169											
PCNXL3	399909	broad.mit.edu	37	chr11	65401666	65401666	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccatgagggcatcacggcaGccctgaggcctgtgcgggtg	6	6	17	12	2	1	2	1	2	0	0	1	2	1	2	3	4	2	2	3	4	0	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:65401666G>A	ENST00000355703.3	+	28	5079	c.4540G>A	c.(4540-4542)Gcc>Acc	p.A1514T	PCNXL3_ENST00000531280.1_3'UTR|MIR4690_ENST00000578459.1_RNA	NM_032223.2	NP_115599.2	Q9H6A9	PCX3_HUMAN	pecanex-like 3 (Drosophila)	1514						integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)	13						CATCACGGCAGCCCTGAGGCC	0.647																																						ENST00000355703.3																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)	13						c.(4540-4542)Gcc>Acc		pecanex-like 3 (Drosophila)							30	36	34					11																	65401666		2094	4202	6296	SO:0001583	missense	399909					integral to membrane		g.chr11:65401666G>A	BX640978	CCDS44650.1	11q12.1	2008-07-21			ENSG00000197136	ENSG00000197136			18760	protein-coding gene	gene with protein product						15146197	Standard	NM_032223		Approved	FLJ22427	uc001oey.2	Q9H6A9	OTTHUMG00000166539	ENST00000355703.3:c.4540G>A	11.37:g.65401666G>A	ENSP00000347931:p.Ala1514Thr					PCNXL3_ENST00000531280.1_3'UTR	p.A1514T	NM_032223.2	NP_115599.2	Q9H6A9	PCX3_HUMAN			28	5079	+			1514					Q6MZN8	Missense_Mutation	SNP	ENST00000355703.3	37	c.4540G>A	CCDS44650.1	.	.	.	.	.	.	.	.	.	.	G	16.61	3.172036	0.57584	.	.	ENSG00000197136	ENST00000355703	T	0.08102	3.13	4.5	4.5	0.54988	.	0.064339	0.64402	D	0.000010	T	0.15478	0.0373	L	0.45352	1.415	0.49582	D	0.999807	B;D	0.61697	0.12;0.99	B;P	0.54238	0.099;0.746	T	0.01420	-1.1359	10	0.39692	T	0.17	.	15.0671	0.72005	0.0:0.0:1.0:0.0	.	401;1514	Q9H6A9-3;Q9H6A9	.;PCX3_HUMAN	T	1514	ENSP00000347931:A1514T	ENSP00000347931:A1514T	A	+	1	0	PCNXL3	65158242	1.000000	0.71417	0.662000	0.29724	0.069000	0.16628	7.480000	0.81109	2.239000	0.73571	0.561000	0.74099	GCC		0.647	PCNXL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390321.1	NM_032223		6	6	0	0	0	1	0	6	6					A	65401666	G	A	65401666	3	1	435	1	0	0	0	0	1	0	0	0	11593	971	34	3	4650	3	PCNXL3	11	65401666	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	5276	65401666	69604850	5245	26170											
SIPA1	6494	broad.mit.edu	37	chr11	65408562	65408562	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cctgcgcagcggcagcgatgCaggcgaggccaggcccccca	7	2	15	17	4	0	0	0	0	0	0	0	2	0	0	5	4	4	3	5	4	0	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:65408562C>T	ENST00000394224.3	+	2	466	c.170C>T	c.(169-171)gCa>gTa	p.A57V	SIPA1_ENST00000394227.3_Missense_Mutation_p.A57V|SIPA1_ENST00000527525.1_Missense_Mutation_p.A57V|SIPA1_ENST00000534313.1_Missense_Mutation_p.A57V	NM_153253.29	NP_694985.29	Q96FS4	SIPA1_HUMAN	signal-induced proliferation-associated 1	57					cell proliferation (GO:0008283)|cellular response to water deprivation (GO:0042631)|cytoskeleton organization (GO:0007010)|intracellular signal transduction (GO:0035556)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell growth (GO:0030308)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Rap GTPase activity (GO:0032854)|signal transduction (GO:0007165)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|protein complex (GO:0043234)|transport vesicle (GO:0030133)	GTPase activator activity (GO:0005096)|Rap GTPase activator activity (GO:0046582)			cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	10						GGCAGCGATGCAGGCGAGGCC	0.726																																						ENST00000394224.3																			0				cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	10						c.(169-171)gCa>gTa		signal-induced proliferation-associated 1							8	9	8					11																	65408562		2098	4105	6203	SO:0001583	missense	6494				cell proliferation|cytoskeleton organization|intracellular signal transduction|negative regulation of cell adhesion|negative regulation of cell cycle|negative regulation of cell growth	cytosol|endomembrane system|membrane|perinuclear region of cytoplasm	Rap GTPase activator activity	g.chr11:65408562C>T	AH006363, BC010492, BM677738	CCDS8108.1	11q13.3	2008-09-12	2008-09-12		ENSG00000213445	ENSG00000213445			10885	protein-coding gene	gene with protein product		602180				9027487	Standard	NM_006747		Approved	SPA1	uc001ofb.2	Q96FS4	OTTHUMG00000166541	ENST00000394224.3:c.170C>T	11.37:g.65408562C>T	ENSP00000377771:p.Ala57Val					SIPA1_ENST00000534313.1_Missense_Mutation_p.A57V|SIPA1_ENST00000394227.3_Missense_Mutation_p.A57V|SIPA1_ENST00000527525.1_Missense_Mutation_p.A57V	p.A57V	NM_153253.29	NP_694985.29	Q96FS4	SIPA1_HUMAN			2	466	+			57					O14518|O60484|O60618|Q2YD83	Missense_Mutation	SNP	ENST00000394224.3	37	c.170C>T	CCDS8108.1	.	.	.	.	.	.	.	.	.	.	C	16.31	3.086578	0.55861	.	.	ENSG00000213445	ENST00000534313;ENST00000533361;ENST00000527525;ENST00000394224;ENST00000394227	D;T;D;D;D	0.84660	-1.88;0.31;-1.87;-1.88;-1.87	5.38	5.38	0.77491	.	0.187052	0.22313	U	0.061703	T	0.79505	0.4457	L	0.51422	1.61	0.29788	N	0.83348	B;B	0.33637	0.42;0.296	B;B	0.28465	0.09;0.041	T	0.76884	-0.2794	10	0.38643	T	0.18	-12.6431	11.6705	0.51399	0.1772:0.8228:0.0:0.0	.	57;57	F6RY50;Q96FS4	.;SIPA1_HUMAN	V	57	ENSP00000436269:A57V;ENSP00000436683:A57V;ENSP00000433686:A57V;ENSP00000377771:A57V;ENSP00000377774:A57V	ENSP00000377771:A57V	A	+	2	0	SIPA1	65165138	0.736000	0.28164	0.954000	0.39281	0.892000	0.51952	1.585000	0.36600	2.520000	0.84964	0.561000	0.74099	GCA		0.726	SIPA1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390356.1	NM_006747		9	8	0	0	0	1	0	9	8					T	65408562	C	T	65408562	3	4	435	1	0	0	0	0	1	0	0	0	14328	710	25	3	172	3	SIPA1	11	65408562	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	6896	65408562	69597954	5246	26171											
SIPA1	6494	broad.mit.edu	37	chr11	65409031	65409031	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tacagcctggagcacgcagaCctgggtgctggctactaccg	8	7	13	13	2	0	1	0	0	0	1	0	2	0	2	3	3	6	4	3	3	3	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:65409031C>T	ENST00000394224.3	+	2	935	c.639C>T	c.(637-639)gaC>gaT	p.D213D	SIPA1_ENST00000394227.3_Silent_p.D213D|SIPA1_ENST00000527525.1_Silent_p.D213D|SIPA1_ENST00000534313.1_Silent_p.D213D	NM_153253.29	NP_694985.29	Q96FS4	SIPA1_HUMAN	signal-induced proliferation-associated 1	213					cell proliferation (GO:0008283)|cellular response to water deprivation (GO:0042631)|cytoskeleton organization (GO:0007010)|intracellular signal transduction (GO:0035556)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell growth (GO:0030308)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Rap GTPase activity (GO:0032854)|signal transduction (GO:0007165)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|protein complex (GO:0043234)|transport vesicle (GO:0030133)	GTPase activator activity (GO:0005096)|Rap GTPase activator activity (GO:0046582)			cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	10						AGCACGCAGACCTGGGTGCTG	0.622																																						ENST00000394224.3																			0				cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	10						c.(637-639)gaC>gaT		signal-induced proliferation-associated 1							36	35	35					11																	65409031		2200	4294	6494	SO:0001819	synonymous_variant	6494				cell proliferation|cytoskeleton organization|intracellular signal transduction|negative regulation of cell adhesion|negative regulation of cell cycle|negative regulation of cell growth	cytosol|endomembrane system|membrane|perinuclear region of cytoplasm	Rap GTPase activator activity	g.chr11:65409031C>T	AH006363, BC010492, BM677738	CCDS8108.1	11q13.3	2008-09-12	2008-09-12		ENSG00000213445	ENSG00000213445			10885	protein-coding gene	gene with protein product		602180				9027487	Standard	NM_006747		Approved	SPA1	uc001ofb.2	Q96FS4	OTTHUMG00000166541	ENST00000394224.3:c.639C>T	11.37:g.65409031C>T						SIPA1_ENST00000534313.1_Silent_p.D213D|SIPA1_ENST00000394227.3_Silent_p.D213D|SIPA1_ENST00000527525.1_Silent_p.D213D	p.D213D	NM_153253.29	NP_694985.29	Q96FS4	SIPA1_HUMAN			2	935	+			213					O14518|O60484|O60618|Q2YD83	Silent	SNP	ENST00000394224.3	37	c.639C>T	CCDS8108.1																																																																																				0.622	SIPA1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390356.1	NM_006747		10	18	0	0	0	1	0	10	18					T	65409031	C	T	65409031	2	4	435	1	0	0	0	0	0	0	0	1	14328	506	18	3		3	SIPA1	11	65409031	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	469	65409031	69597485	5247	26172											
SIPA1	6494	broad.mit.edu	37	chr11	65412536	65412536	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gccttcatgcagtttctcacCttgctgggcgatgtggtgcg	4	13	13	11	2	2	0	2	0	1	0	3	1	2	0	2	2	3	3	2	2	0	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:65412536C>A	ENST00000394224.3	+	5	1391	c.1095C>A	c.(1093-1095)acC>acA	p.T365T	SIPA1_ENST00000394227.3_Silent_p.T365T|SIPA1_ENST00000527525.1_Silent_p.T365T|SIPA1_ENST00000534313.1_Silent_p.T365T	NM_153253.29	NP_694985.29	Q96FS4	SIPA1_HUMAN	signal-induced proliferation-associated 1	365	Rap-GAP. {ECO:0000255|PROSITE- ProRule:PRU00165}.				cell proliferation (GO:0008283)|cellular response to water deprivation (GO:0042631)|cytoskeleton organization (GO:0007010)|intracellular signal transduction (GO:0035556)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell growth (GO:0030308)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Rap GTPase activity (GO:0032854)|signal transduction (GO:0007165)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|protein complex (GO:0043234)|transport vesicle (GO:0030133)	GTPase activator activity (GO:0005096)|Rap GTPase activator activity (GO:0046582)			cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	10						AGTTTCTCACCTTGCTGGGCG	0.622																																						ENST00000394224.3																			0				cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	10						c.(1093-1095)acC>acA		signal-induced proliferation-associated 1							127	117	120					11																	65412536		2201	4297	6498	SO:0001819	synonymous_variant	6494				cell proliferation|cytoskeleton organization|intracellular signal transduction|negative regulation of cell adhesion|negative regulation of cell cycle|negative regulation of cell growth	cytosol|endomembrane system|membrane|perinuclear region of cytoplasm	Rap GTPase activator activity	g.chr11:65412536C>A	AH006363, BC010492, BM677738	CCDS8108.1	11q13.3	2008-09-12	2008-09-12		ENSG00000213445	ENSG00000213445			10885	protein-coding gene	gene with protein product		602180				9027487	Standard	NM_006747		Approved	SPA1	uc001ofb.2	Q96FS4	OTTHUMG00000166541	ENST00000394224.3:c.1095C>A	11.37:g.65412536C>A						SIPA1_ENST00000534313.1_Silent_p.T365T|SIPA1_ENST00000394227.3_Silent_p.T365T|SIPA1_ENST00000527525.1_Silent_p.T365T	p.T365T	NM_153253.29	NP_694985.29	Q96FS4	SIPA1_HUMAN			5	1391	+			365			Rap-GAP.		O14518|O60484|O60618|Q2YD83	Silent	SNP	ENST00000394224.3	37	c.1095C>A	CCDS8108.1																																																																																				0.622	SIPA1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390356.1	NM_006747		25	54	1	0	9.90768e-06	1	1.02613e-05	25	54					A	65412536	C	A	65412536	2	1	435	1	0	0	0	0	0	0	0	1	14328	668	24	5		5	SIPA1	11	65412536	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	3505	65412536	69593980	5248	26173											
SIPA1	6494	broad.mit.edu	37	chr11	65413816	65413816	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtgttcctagtggtgcgggCacacacaccctgcacgccac	7	7	11	16	3	0	0	0	0	0	0	1	0	1	0	3	2	2	3	3	2	1	2	rs146280906		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:65413816C>T	ENST00000394224.3	+	7	1684	c.1388C>T	c.(1387-1389)gCa>gTa	p.A463V	SIPA1_ENST00000394227.3_Missense_Mutation_p.A463V|SIPA1_ENST00000527525.1_Missense_Mutation_p.A463V|MIR4489_ENST00000578869.1_RNA|SIPA1_ENST00000534313.1_Missense_Mutation_p.A463V	NM_153253.29	NP_694985.29	Q96FS4	SIPA1_HUMAN	signal-induced proliferation-associated 1	463	Rap-GAP. {ECO:0000255|PROSITE- ProRule:PRU00165}.				cell proliferation (GO:0008283)|cellular response to water deprivation (GO:0042631)|cytoskeleton organization (GO:0007010)|intracellular signal transduction (GO:0035556)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell growth (GO:0030308)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Rap GTPase activity (GO:0032854)|signal transduction (GO:0007165)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|protein complex (GO:0043234)|transport vesicle (GO:0030133)	GTPase activator activity (GO:0005096)|Rap GTPase activator activity (GO:0046582)			cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	10						GTGGTGCGGGCACACACACCC	0.642																																						ENST00000394224.3																			0				cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	10						c.(1387-1389)gCa>gTa		signal-induced proliferation-associated 1		C	VAL/ALA,VAL/ALA	2,4400	4.2+/-10.8	0,2,2199	91	75	81		1388,1388	2.1	0.1	11	dbSNP_134	81	0,8594		0,0,4297	no	missense,missense	SIPA1	NM_006747.3,NM_153253.29	64,64	0,2,6496	TT,TC,CC		0.0,0.0454,0.0154	benign,benign	463/1043,463/1043	65413816	2,12994	2201	4297	6498	SO:0001583	missense	6494				cell proliferation|cytoskeleton organization|intracellular signal transduction|negative regulation of cell adhesion|negative regulation of cell cycle|negative regulation of cell growth	cytosol|endomembrane system|membrane|perinuclear region of cytoplasm	Rap GTPase activator activity	g.chr11:65413816C>T	AH006363, BC010492, BM677738	CCDS8108.1	11q13.3	2008-09-12	2008-09-12		ENSG00000213445	ENSG00000213445			10885	protein-coding gene	gene with protein product		602180				9027487	Standard	NM_006747		Approved	SPA1	uc001ofb.2	Q96FS4	OTTHUMG00000166541	ENST00000394224.3:c.1388C>T	11.37:g.65413816C>T	ENSP00000377771:p.Ala463Val					SIPA1_ENST00000534313.1_Missense_Mutation_p.A463V|SIPA1_ENST00000394227.3_Missense_Mutation_p.A463V|SIPA1_ENST00000527525.1_Missense_Mutation_p.A463V	p.A463V	NM_153253.29	NP_694985.29	Q96FS4	SIPA1_HUMAN			7	1684	+			463			Rap-GAP.		O14518|O60484|O60618|Q2YD83	Missense_Mutation	SNP	ENST00000394224.3	37	c.1388C>T	CCDS8108.1	.	.	.	.	.	.	.	.	.	.	C	2.915	-0.224394	0.06061	4.54E-4	0.0	ENSG00000213445	ENST00000534313;ENST00000527525;ENST00000394224;ENST00000394227	D;D;D;D	0.93366	-3.21;-3.21;-3.21;-3.21	4.03	2.11	0.27256	Rap/ran-GAP (2);	0.444177	0.16608	U	0.207029	T	0.76681	0.4021	N	0.02721	-0.515	0.36964	D	0.893472	B;B	0.02656	0.0;0.0	B;B	0.10450	0.001;0.005	T	0.68146	-0.5486	10	0.02654	T	1	-8.8625	3.7783	0.08669	0.1919:0.6028:0.0:0.2053	.	463;463	F6RY50;Q96FS4	.;SIPA1_HUMAN	V	463	ENSP00000436269:A463V;ENSP00000433686:A463V;ENSP00000377771:A463V;ENSP00000377774:A463V	ENSP00000377771:A463V	A	+	2	0	SIPA1	65170392	0.023000	0.18921	0.074000	0.20217	0.066000	0.16364	0.235000	0.17948	0.466000	0.27193	0.462000	0.41574	GCA		0.642	SIPA1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390356.1	NM_006747		12	12	0	0	0	1	0	12	12					T	65413816	C	T	65413816	3	4	435	1	0	0	0	0	1	0	0	0	14328	710	25	3	1410	3	SIPA1	11	65413816	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	1280	65413816	69592700	5249	26174											
SIPA1	6494	broad.mit.edu	37	chr11	65417640	65417640	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccagagagtggagaccctaaGggaactccaaaatctgatgc	14	6	11	10	0	1	3	0	1	1	2	2	6	2	4	3	2	2	0	3	2	4	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:65417640G>T	ENST00000394224.3	+	14	3176	c.2880G>T	c.(2878-2880)aaG>aaT	p.K960N	SIPA1_ENST00000394227.3_Missense_Mutation_p.K858N|SIPA1_ENST00000527525.1_Missense_Mutation_p.K858N|MIR4489_ENST00000578869.1_RNA|SIPA1_ENST00000534313.1_Missense_Mutation_p.K960N	NM_153253.29	NP_694985.29	Q96FS4	SIPA1_HUMAN	signal-induced proliferation-associated 1	960					cell proliferation (GO:0008283)|cellular response to water deprivation (GO:0042631)|cytoskeleton organization (GO:0007010)|intracellular signal transduction (GO:0035556)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell growth (GO:0030308)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Rap GTPase activity (GO:0032854)|signal transduction (GO:0007165)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|protein complex (GO:0043234)|transport vesicle (GO:0030133)	GTPase activator activity (GO:0005096)|Rap GTPase activator activity (GO:0046582)			cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	10						GAGACCCTAAGGGAACTCCAA	0.607																																						ENST00000394224.3																			0				cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	10						c.(2878-2880)aaG>aaT		signal-induced proliferation-associated 1							91	91	91					11																	65417640		2201	4297	6498	SO:0001583	missense	6494				cell proliferation|cytoskeleton organization|intracellular signal transduction|negative regulation of cell adhesion|negative regulation of cell cycle|negative regulation of cell growth	cytosol|endomembrane system|membrane|perinuclear region of cytoplasm	Rap GTPase activator activity	g.chr11:65417640G>T	AH006363, BC010492, BM677738	CCDS8108.1	11q13.3	2008-09-12	2008-09-12		ENSG00000213445	ENSG00000213445			10885	protein-coding gene	gene with protein product		602180				9027487	Standard	NM_006747		Approved	SPA1	uc001ofb.2	Q96FS4	OTTHUMG00000166541	ENST00000394224.3:c.2880G>T	11.37:g.65417640G>T	ENSP00000377771:p.Lys960Asn					SIPA1_ENST00000534313.1_Missense_Mutation_p.K960N|SIPA1_ENST00000394227.3_Missense_Mutation_p.K858N|SIPA1_ENST00000527525.1_Missense_Mutation_p.K858N	p.K960N	NM_153253.29	NP_694985.29	Q96FS4	SIPA1_HUMAN			14	3176	+			960					O14518|O60484|O60618|Q2YD83	Missense_Mutation	SNP	ENST00000394224.3	37	c.2880G>T	CCDS8108.1	.	.	.	.	.	.	.	.	.	.	G	16.61	3.172386	0.57584	.	.	ENSG00000213445	ENST00000534313;ENST00000527525;ENST00000394224;ENST00000394227	D;D;D;D	0.82711	-1.64;-1.64;-1.64;-1.64	4.18	4.18	0.49190	.	0.913402	0.08961	U	0.868692	T	0.75882	0.3910	L	0.36672	1.1	0.29871	N	0.826863	P;B	0.36535	0.557;0.319	B;B	0.32864	0.154;0.111	T	0.70238	-0.4927	10	0.44086	T	0.13	-29.3118	11.9895	0.53168	0.0:0.0:1.0:0.0	.	858;960	F6RY50;Q96FS4	.;SIPA1_HUMAN	N	960;858;960;858	ENSP00000436269:K960N;ENSP00000433686:K858N;ENSP00000377771:K960N;ENSP00000377774:K858N	ENSP00000377771:K960N	K	+	3	2	SIPA1	65174216	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	1.215000	0.32431	1.879000	0.54435	0.313000	0.20887	AAG		0.607	SIPA1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390356.1	NM_006747		4	66	1	0	2.56e-06	1	2.66106e-06	4	66					T	65417640	G	T	65417640	3	4	435	1	0	0	0	0	1	0	0	0	14328	991	35	5	2930	5	SIPA1	11	65417640	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	3824	65417640	69588876	5250	26175											
RELA	5970	broad.mit.edu	37	chr11	65426220	65426220	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgtcacacagtaggaagatCtcatccccaccgaggcagct	11	8	9	13	1	2	1	2	0	1	1	4	3	3	2	3	2	1	3	3	2	2	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:65426220C>A	ENST00000406246.3	-	7	894	c.633G>T	c.(631-633)gaG>gaT	p.E211D	RELA_ENST00000308639.9_Missense_Mutation_p.E208D|RELA_ENST00000525693.1_Missense_Mutation_p.E211D	NM_001243984.1|NM_001243985.1|NM_021975.3	NP_001230913.1|NP_001230914.1|NP_068810.3	Q04206	TF65_HUMAN	v-rel avian reticuloendotheliosis viral oncogene homolog A	211	RHD. {ECO:0000255|PROSITE- ProRule:PRU00265}.				acetaldehyde metabolic process (GO:0006117)|aging (GO:0007568)|cellular defense response (GO:0006968)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to interleukin-1 (GO:0071347)|cellular response to interleukin-6 (GO:0071354)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to nicotine (GO:0071316)|cellular response to peptide hormone stimulus (GO:0071375)|cellular response to tumor necrosis factor (GO:0071356)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|Fc-epsilon receptor signaling pathway (GO:0038095)|hair follicle development (GO:0001942)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|liver development (GO:0001889)|membrane protein intracellular domain proteolysis (GO:0031293)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nucleotide-binding oligomerization domain containing 2 signaling pathway (GO:0070431)|organ morphogenesis (GO:0009887)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-12 biosynthetic process (GO:0045084)|positive regulation of miRNA metabolic process (GO:2000630)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of Schwann cell differentiation (GO:0014040)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|regulation of inflammatory response (GO:0050727)|response to amino acid (GO:0043200)|response to cAMP (GO:0051591)|response to cobalamin (GO:0033590)|response to drug (GO:0042493)|response to insulin (GO:0032868)|response to interleukin-1 (GO:0070555)|response to mechanical stimulus (GO:0009612)|response to morphine (GO:0043278)|response to muramyl dipeptide (GO:0032495)|response to organic substance (GO:0010033)|response to progesterone (GO:0032570)|response to UV-B (GO:0010224)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	activating transcription factor binding (GO:0033613)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|NF-kappaB binding (GO:0051059)|phosphate ion binding (GO:0042301)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|repressing transcription factor binding (GO:0070491)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(11)|ovary(1)|urinary_tract(1)	19						GTAGGAAGATCTCATCCCCAC	0.567																																						ENST00000525693.1																			0				central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(11)|ovary(1)|urinary_tract(1)	19						c.(631-633)gaG>gaT		v-rel avian reticuloendotheliosis viral oncogene homolog A							141	121	127					11																	65426220		2201	4297	6498	SO:0001583	missense	5970				anti-apoptosis|cellular defense response|cytokine-mediated signaling pathway|defense response to virus|inflammatory response|innate immune response|interspecies interaction between organisms|membrane protein intracellular domain proteolysis|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription, DNA-dependent|nerve growth factor receptor signaling pathway|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of inflammatory response|response to interleukin-1|response to UV-B|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|transcription factor complex	activating transcription factor binding|chromatin binding|identical protein binding|NF-kappaB binding|phosphate binding|protein kinase binding|protein N-terminus binding|repressing transcription factor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|ubiquitin protein ligase binding	g.chr11:65426220C>A	Z22951	CCDS31609.1, CCDS44651.1, CCDS73322.1	11q13	2013-07-09	2013-07-09		ENSG00000173039	ENSG00000173039			9955	protein-coding gene	gene with protein product		164014	"nuclear factor of kappa light polypeptide gene enhancer in B-cells 3"	NFKB3		2001591	Standard	NM_021975		Approved	p65	uc001ofg.3	Q04206	OTTHUMG00000166566	ENST00000406246.3:c.633G>T	11.37:g.65426220C>A	ENSP00000384273:p.Glu211Asp					RELA_ENST00000406246.3_Missense_Mutation_p.E211D|RELA_ENST00000308639.9_Missense_Mutation_p.E208D	p.E211D			Q04206	TF65_HUMAN			7	695	-			211			RHD.		Q6GTV1|Q6SLK1	Missense_Mutation	SNP	ENST00000406246.3	37	c.633G>T	CCDS31609.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.239810	0.79912	.	.	ENSG00000173039	ENST00000406246;ENST00000525693;ENST00000308639;ENST00000426617;ENST00000545816;ENST00000532999;ENST00000534558;ENST00000527749	T;T;T;T;T;T	0.39406	1.08;1.08;1.08;1.08;1.08;1.08	5.13	5.13	0.70059	Cell surface receptor IPT/TIG (1);Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.66761	0.2822	M	0.80422	2.495	0.48087	D	0.999585	P;D;D;D;D;P	0.71674	0.627;0.978;0.978;0.963;0.998;0.685	B;D;D;P;D;B	0.81914	0.399;0.934;0.934;0.86;0.995;0.354	T	0.71998	-0.4423	10	0.87932	D	0	-21.9559	16.0771	0.80976	0.0:1.0:0.0:0.0	.	211;198;208;211;222;211	Q04206-3;Q04206-2;Q04206-4;Q04206;B4E082;Q2TAM5	.;.;.;TF65_HUMAN;.;.	D	211;211;208;211;222;222;202;180	ENSP00000384273:E211D;ENSP00000432537:E211D;ENSP00000311508:E208D;ENSP00000433526:E222D;ENSP00000434372:E202D;ENSP00000436545:E180D	ENSP00000311508:E208D	E	-	3	2	RELA	65182796	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.902000	0.39848	2.387000	0.81309	0.655000	0.94253	GAG		0.567	RELA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390457.2	NM_021975		7	73	1	0	0.0477658	1	0.0480142	7	73					A	65426220	C	A	65426220	3	1	435	1	0	0	0	0	1	0	0	0	13216	912	32	5	1042	5	RELA	11	65426220	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	8580	65426220	69580296	5251	26176											
OVOL1	5017	broad.mit.edu	37	chr11	65562113	65562113	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cgccacatgaagtgtcacaaCgacgtcaagaggcacctctg	12	6	10	13	3	3	2	2	1	1	1	3	3	3	2	2	1	1	1	2	1	3	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:65562113C>T	ENST00000335987.3	+	3	775	c.423C>T	c.(421-423)aaC>aaT	p.N141N	RP11-770G2.5_ENST00000531155.1_RNA|OVOL1_ENST00000532448.1_Silent_p.N79N	NM_004561.3	NP_004552.2	O14753	OVOL1_HUMAN	ovo-like zinc finger 1	141					cytoskeleton organization (GO:0007010)|epidermal cell differentiation (GO:0009913)|germline cell cycle switching, mitotic to meiotic cell cycle (GO:0051729)|kidney development (GO:0001822)|mesoderm development (GO:0007498)|negative regulation of meiotic cell cycle phase transition (GO:1901994)|spermatogenesis (GO:0007283)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(2)|upper_aerodigestive_tract(1)	6				READ - Rectum adenocarcinoma(159;0.17)		AGTGTCACAACGACGTCAAGA	0.577																																						ENST00000335987.3																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|lung(2)|upper_aerodigestive_tract(1)	6						c.(421-423)aaC>aaT		ovo-like zinc finger 1							142	105	118					11																	65562113		2201	4297	6498	SO:0001819	synonymous_variant	5017				transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr11:65562113C>T	BC059408	CCDS8112.1	11q13	2013-10-17	2013-10-17		ENSG00000172818	ENSG00000172818		"Zinc fingers, C2H2-type"	8525	protein-coding gene	gene with protein product		602313	"ovo (Drosophila) homolog-like 1", "ovo-like 1(Drosophila)"			9383297	Standard	NM_004561		Approved	HOVO1	uc001ofp.3	O14753	OTTHUMG00000166600	ENST00000335987.3:c.423C>T	11.37:g.65562113C>T						OVOL1_ENST00000532448.1_Silent_p.N79N	p.N141N	NM_004561.3	NP_004552.2	O14753	OVOL1_HUMAN		READ - Rectum adenocarcinoma(159;0.17)	3	775	+			141					Q6PCB1	Silent	SNP	ENST00000335987.3	37	c.423C>T	CCDS8112.1																																																																																				0.577	OVOL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390690.1	NM_004561		13	26	0	0	0	1	0	13	26					T	65562113	C	T	65562113	2	4	435	1	0	0	0	0	0	0	0	1	11326	535	19	1		1	OVOL1	11	65562113	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	135893	65562113	69444403	5252	26177											
MUS81	80198	broad.mit.edu	37	chr11	65633303	65633303	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcctggccgcctatgatgcCtgtgccacccccaaggaaca	8	7	9	17	1	0	1	0	1	0	0	1	2	1	2	7	2	3	0	7	2	3	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:65633303C>A	ENST00000308110.4	+	15	1876	c.1527C>A	c.(1525-1527)gcC>gcA	p.A509A	EFEMP2_ENST00000532648.1_5'Flank|MUS81_ENST00000533035.1_Silent_p.A434A	NM_025128.4	NP_079404.3	Q96NY9	MUS81_HUMAN	MUS81 structure-specific endonuclease subunit	509					DNA catabolic process, endonucleolytic (GO:0000737)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|response to intra-S DNA damage checkpoint signaling (GO:0072429)	intercellular bridge (GO:0045171)|nucleus (GO:0005634)	3'-flap endonuclease activity (GO:0048257)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|kidney(3)|large_intestine(2)|lung(5)|ovary(1)|skin(1)	13				READ - Rectum adenocarcinoma(159;0.166)		CCTATGATGCCTGTGCCACCC	0.632								Homologous recombination																														ENST00000308110.4																			0				endometrium(1)|kidney(3)|large_intestine(2)|lung(5)|ovary(1)|skin(1)	13						c.(1525-1527)gcC>gcA	Homologous recombination	MUS81 structure-specific endonuclease subunit							85	90	88					11																	65633303		2201	4296	6497	SO:0001819	synonymous_variant	80198				DNA recombination|DNA repair	nucleolus	3'-flap endonuclease activity|DNA binding|metal ion binding|protein binding	g.chr11:65633303C>A		CCDS8115.1	11q13	2013-07-03	2013-07-03			ENSG00000172732			29814	protein-coding gene	gene with protein product	"SLX3 structure-specific endonuclease subunit homolog (S. cerevisiae)"	606591	"MUS81 endonuclease homolog (yeast)", "MUS81 endonuclease homolog (S. cerevisiae)"			11741546, 12374758	Standard	NM_025128		Approved	FLJ44872, SLX3	uc001ofv.4	Q96NY9		ENST00000308110.4:c.1527C>A	11.37:g.65633303C>A						MUS81_ENST00000533035.1_Silent_p.A434A	p.A509A	NM_025128.4	NP_079404.3	Q96NY9	MUS81_HUMAN		READ - Rectum adenocarcinoma(159;0.166)	15	1876	+			509					Q9H7D9	Silent	SNP	ENST00000308110.4	37	c.1527C>A	CCDS8115.1																																																																																				0.632	MUS81-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390941.3	NM_025128		20	38	1	0	1.55795e-14	1	1.69983e-14	20	38					A	65633303	C	A	65633303	2	1	435	1	0	0	0	0	0	0	0	1	9988	668	24	5		5	MUS81	11	65633303	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	71190	65633303	69373213	5253	26178											
CTSW	1521	broad.mit.edu	37	chr11	65649991	65649991	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggattttgtggatgtctccGtgcagggtagggttgggaga	6	12	19	4	1	1	1	0	0	1	1	2	4	1	3	1	5	1	3	1	5	1	4	rs140048610	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:65649991G>A	ENST00000307886.3	+	5	578	c.532G>A	c.(532-534)Gtg>Atg	p.V178M	CTSW_ENST00000528419.1_Missense_Mutation_p.V178M	NM_001335.3	NP_001326	P56202	CATW_HUMAN	cathepsin W	178					immune response (GO:0006955)	membrane (GO:0016020)	cysteine-type peptidase activity (GO:0008234)			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(5)	9				READ - Rectum adenocarcinoma(159;0.168)		GGATGTCTCCGTGCAGGGTAG	0.607																																						ENST00000528419.1																			0				central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(5)	9						c.(532-534)Gtg>Atg		cathepsin W		G	MET/VAL	0,4402		0,0,2201	93	93	93		532	3.5	0.9	11	dbSNP_134	93	1,8591	1.2+/-3.3	0,1,4295	no	missense	CTSW	NM_001335.3	21	0,1,6496	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	178/377	65649991	1,12993	2201	4296	6497	SO:0001583	missense	1521				immune response|proteolysis		cysteine-type endopeptidase activity	g.chr11:65649991G>A	AF055903	CCDS8117.1	11q13.1	2008-02-01	2006-12-05		ENSG00000172543	ENSG00000172543		"Cathepsins"	2546	protein-coding gene	gene with protein product		602364	"cathepsin W (lymphopain)"			9108299, 9675123	Standard	NM_001335		Approved		uc001ogc.1	P56202	OTTHUMG00000166663	ENST00000307886.3:c.532G>A	11.37:g.65649991G>A	ENSP00000311300:p.Val178Met					CTSW_ENST00000307886.3_Missense_Mutation_p.V178M	p.V178M			P56202	CATW_HUMAN		READ - Rectum adenocarcinoma(159;0.168)	5	536	+			178					Q86VT4	Missense_Mutation	SNP	ENST00000307886.3	37	c.532G>A	CCDS8117.1	.	.	.	.	.	.	.	.	.	.	G	10.48	1.362514	0.24684	0.0	1.16E-4	ENSG00000172543	ENST00000307886;ENST00000528419;ENST00000526034	T;T;T	0.31510	1.49;1.49;1.49	5.39	3.5	0.40072	Peptidase C1A, papain C-terminal (2);	0.426220	0.22121	N	0.064331	T	0.45013	0.1321	M	0.62266	1.93	0.26274	N	0.978374	D;D	0.64830	0.964;0.994	P;P	0.60886	0.75;0.88	T	0.24368	-1.0162	10	0.66056	D	0.02	.	8.8321	0.35091	0.1835:0.0:0.8165:0.0	.	178;178	P56202;E9PI30	CATW_HUMAN;.	M	178;178;177	ENSP00000311300:V178M;ENSP00000436568:V178M;ENSP00000434267:V177M	ENSP00000311300:V178M	V	+	1	0	CTSW	65406567	0.963000	0.33076	0.895000	0.35142	0.127000	0.20565	1.710000	0.37920	1.414000	0.47017	0.655000	0.94253	GTG		0.607	CTSW-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391042.1	NM_001335		15	22	0	0	0	1	0	15	22					A	65649991	G	A	65649991	3	1	435	1	0	0	0	0	1	0	0	0	4042	1145	40	1	550	1	CTSW	11	65649991	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	16688	65649991	69356525	5254	26179											
CTSW	1521	broad.mit.edu	37	chr11	65650136	65650136	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acggtggcttcgtctgggacGcgttcataactgtcctcaac	7	11	11	12	4	3	0	2	0	1	0	5	1	4	1	1	3	2	2	1	3	2	3	rs533711333		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:65650136G>A	ENST00000307886.3	+	6	641	c.595G>A	c.(595-597)Gcg>Acg	p.A199T	CTSW_ENST00000528419.1_Missense_Mutation_p.A199T	NM_001335.3	NP_001326	P56202	CATW_HUMAN	cathepsin W	199					immune response (GO:0006955)	membrane (GO:0016020)	cysteine-type peptidase activity (GO:0008234)			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(5)	9				READ - Rectum adenocarcinoma(159;0.168)		CGTCTGGGACGCGTTCATAAC	0.627													G|||	1	0.000199681	8e-04	0	5008	,	,		13948	0		0	False		,,,				2504	0					ENST00000528419.1																			0				central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(5)	9						c.(595-597)Gcg>Acg		cathepsin W							96	80	85					11																	65650136		2201	4296	6497	SO:0001583	missense	1521				immune response|proteolysis		cysteine-type endopeptidase activity	g.chr11:65650136G>A	AF055903	CCDS8117.1	11q13.1	2008-02-01	2006-12-05		ENSG00000172543	ENSG00000172543		"Cathepsins"	2546	protein-coding gene	gene with protein product		602364	"cathepsin W (lymphopain)"			9108299, 9675123	Standard	NM_001335		Approved		uc001ogc.1	P56202	OTTHUMG00000166663	ENST00000307886.3:c.595G>A	11.37:g.65650136G>A	ENSP00000311300:p.Ala199Thr					CTSW_ENST00000307886.3_Missense_Mutation_p.A199T	p.A199T			P56202	CATW_HUMAN		READ - Rectum adenocarcinoma(159;0.168)	6	599	+			199					Q86VT4	Missense_Mutation	SNP	ENST00000307886.3	37	c.595G>A	CCDS8117.1	.	.	.	.	.	.	.	.	.	.	G	18.06	3.540300	0.65085	.	.	ENSG00000172543	ENST00000307886;ENST00000528419	D;D	0.91464	-2.85;-2.85	5.6	5.6	0.85130	Peptidase C1A, papain C-terminal (2);	0.000000	0.64402	D	0.000002	D	0.94241	0.8151	M	0.67953	2.075	0.47949	D	0.99955	D;D	0.89917	1.0;1.0	D;D	0.91635	0.982;0.999	D	0.93161	0.6558	10	0.37606	T	0.19	.	15.109	0.72340	0.0:0.0:1.0:0.0	.	199;199	P56202;E9PI30	CATW_HUMAN;.	T	199	ENSP00000311300:A199T;ENSP00000436568:A199T	ENSP00000311300:A199T	A	+	1	0	CTSW	65406712	0.778000	0.28640	0.738000	0.30950	0.105000	0.19272	3.340000	0.52143	2.633000	0.89246	0.591000	0.81541	GCG		0.627	CTSW-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391042.1	NM_001335		8	34	0	0	0	1	0	8	34					A	65650136	G	A	65650136	3	1	435	1	0	0	0	0	1	0	0	0	4042	1087	38	1	617	1	CTSW	11	65650136	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	145	65650136	69356380	5255	26180											
PACS1	55690	broad.mit.edu	37	chr11	65960985	65960985	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcttgaccctgaagaaactcGtcatgctaaaagaaatggac	15	8	9	9	1	1	4	1	2	0	2	2	5	1	5	1	1	2	2	1	1	5	2	rs115491121	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:65960985G>A	ENST00000320580.4	+	2	418	c.385G>A	c.(385-387)Gtc>Atc	p.V129I		NM_018026.3	NP_060496.2	Q6VY07	PACS1_HUMAN	phosphofurin acidic cluster sorting protein 1	129					protein targeting to Golgi (GO:0000042)|protein targeting to plasma membrane (GO:0072661)|regulation of defense response to virus by virus (GO:0050690)|viral process (GO:0016032)	COPI-coated vesicle (GO:0030137)|cytosol (GO:0005829)	ion channel binding (GO:0044325)		RBM14/PACS1(2)	breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(8)|ovary(6)|skin(2)|urinary_tract(1)	37						GAAGAAACTCGTCATGCTAAA	0.463													G|||	3	0.000599042	0	0	5008	,	,		22927	0.003		0	False		,,,				2504	0					ENST00000320580.4																		RBM14/PACS1(2)	0				breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(8)|ovary(6)|skin(2)|urinary_tract(1)	37						c.(385-387)Gtc>Atc		phosphofurin acidic cluster sorting protein 1							105	88	94					11																	65960985		2201	4295	6496	SO:0001583	missense	55690				interspecies interaction between organisms|regulation of defense response to virus by virus|viral reproduction	cytosol	protein binding	g.chr11:65960985G>A	AB033001	CCDS8129.1	11q13.1-q13.2	2008-02-05			ENSG00000175115	ENSG00000175115			30032	protein-coding gene	gene with protein product		607492				12855553, 14608369	Standard	NM_018026		Approved	FLJ10209, KIAA1175	uc001oha.2	Q6VY07	OTTHUMG00000166889	ENST00000320580.4:c.385G>A	11.37:g.65960985G>A	ENSP00000316454:p.Val129Ile						p.V129I	NM_018026.3	NP_060496.2	Q6VY07	PACS1_HUMAN			2	418	+			129					Q6PJY6|Q6PKB6|Q7Z590|Q7Z5W4|Q8N8K6|Q96MW0|Q9NW92|Q9ULP5	Missense_Mutation	SNP	ENST00000320580.4	37	c.385G>A	CCDS8129.1	2	9.157509157509158E-4	0	0.0	0	0.0	2	0.0034965034965034965	0	0.0	G	13.32	2.202972	0.38905	.	.	ENSG00000175115	ENST00000320580;ENST00000533756;ENST00000527380	T	0.23348	1.91	4.88	2.99	0.34606	.	0.445650	0.23879	N	0.043673	T	0.15305	0.0369	L	0.33245	0.995	0.80722	D	1	B;B	0.27951	0.004;0.195	B;B	0.15484	0.001;0.013	T	0.07290	-1.0780	10	0.38643	T	0.18	-22.5368	5.9938	0.19483	0.2919:0.0:0.7081:0.0	.	129;129	Q6VY07;Q6VY07-2	PACS1_HUMAN;.	I	129;26;31	ENSP00000316454:V129I	ENSP00000316454:V129I	V	+	1	0	PACS1	65717561	0.310000	0.24527	0.755000	0.31263	0.980000	0.70556	0.741000	0.26202	1.051000	0.40369	-0.140000	0.14226	GTC		0.463	PACS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391690.2	NM_018026		13	25	0	0	0	1	0	13	25					A	65960985	G	A	65960985	3	1	435	1	0	0	0	0	1	0	0	0	11372	1145	40	1	391	1	PACS1	11	65960985	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	310849	65960985	69045531	5256	26181											
PACS1	55690	broad.mit.edu	37	chr11	65978665	65978665	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcatgctgcaaaggagaaaaCgttacaagaatcggaccatc	16	7	9	9	2	1	2	1	0	0	2	3	4	1	3	1	2	4	3	1	2	6	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:65978665C>T	ENST00000320580.4	+	4	628	c.595C>T	c.(595-597)Cgt>Tgt	p.R199C		NM_018026.3	NP_060496.2	Q6VY07	PACS1_HUMAN	phosphofurin acidic cluster sorting protein 1	199				Missing (in Ref. 2; BAC04831). {ECO:0000305}.	protein targeting to Golgi (GO:0000042)|protein targeting to plasma membrane (GO:0072661)|regulation of defense response to virus by virus (GO:0050690)|viral process (GO:0016032)	COPI-coated vesicle (GO:0030137)|cytosol (GO:0005829)	ion channel binding (GO:0044325)		RBM14/PACS1(2)	breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(8)|ovary(6)|skin(2)|urinary_tract(1)	37						AAGGAGAAAACGTTACAAGAA	0.483																																						ENST00000320580.4																		RBM14/PACS1(2)	0				breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(8)|ovary(6)|skin(2)|urinary_tract(1)	37						c.(595-597)Cgt>Tgt		phosphofurin acidic cluster sorting protein 1							221	188	199					11																	65978665		2201	4295	6496	SO:0001583	missense	55690				interspecies interaction between organisms|regulation of defense response to virus by virus|viral reproduction	cytosol	protein binding	g.chr11:65978665C>T	AB033001	CCDS8129.1	11q13.1-q13.2	2008-02-05			ENSG00000175115	ENSG00000175115			30032	protein-coding gene	gene with protein product		607492				12855553, 14608369	Standard	NM_018026		Approved	FLJ10209, KIAA1175	uc001oha.2	Q6VY07	OTTHUMG00000166889	ENST00000320580.4:c.595C>T	11.37:g.65978665C>T	ENSP00000316454:p.Arg199Cys						p.R199C	NM_018026.3	NP_060496.2	Q6VY07	PACS1_HUMAN			4	628	+			199	Missing (in Ref. 2; BAC04831).				Q6PJY6|Q6PKB6|Q7Z590|Q7Z5W4|Q8N8K6|Q96MW0|Q9NW92|Q9ULP5	Missense_Mutation	SNP	ENST00000320580.4	37	c.595C>T	CCDS8129.1	.	.	.	.	.	.	.	.	.	.	C	12.84	2.058214	0.36277	.	.	ENSG00000175115	ENST00000320580;ENST00000533756;ENST00000527380	T	0.37584	1.19	5.09	4.16	0.48862	.	0.000000	0.85682	D	0.000000	T	0.60457	0.2270	M	0.86343	2.81	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.99;0.997	T	0.64732	-0.6338	10	0.87932	D	0	-12.2263	8.1856	0.31337	0.1556:0.7609:0.0:0.0835	.	199;199	Q6VY07;Q6VY07-2	PACS1_HUMAN;.	C	199;96;101	ENSP00000316454:R199C	ENSP00000316454:R199C	R	+	1	0	PACS1	65735241	1.000000	0.71417	0.999000	0.59377	0.805000	0.45488	1.114000	0.31196	2.659000	0.90383	0.313000	0.20887	CGT		0.483	PACS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391690.2	NM_018026		8	142	0	0	0	1	0	8	142					T	65978665	C	T	65978665	3	4	435	1	0	0	0	0	1	0	0	0	11372	536	19	1	609	1	PACS1	11	65978665	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	17680	65978665	69027851	5257	26182											
KLC2	64837	broad.mit.edu	37	chr11	66031140	66031140	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cctgctcccagggatcagaaCaagtacaaggaggctgccca	12	5	11	13	0	1	1	1	0	0	1	2	3	2	3	3	3	4	3	3	3	4	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:66031140C>T	ENST00000417856.1	+	6	1005	c.762C>T	c.(760-762)aaC>aaT	p.N254N	KLC2_ENST00000316924.5_Silent_p.N254N|RP11-867G23.1_ENST00000530805.1_RNA|KLC2_ENST00000394065.2_Silent_p.N115N|KLC2_ENST00000394067.2_Silent_p.N254N|KLC2_ENST00000394078.1_Intron|KLC2_ENST00000394066.2_Silent_p.N177N|RP11-755F10.3_ENST00000533576.1_RNA|KLC2_ENST00000421552.1_Silent_p.N177N	NM_001134775.1	NP_001128247.1	Q9H0B6	KLC2_HUMAN	kinesin light chain 2	254					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon cargo transport (GO:0008088)|blood coagulation (GO:0007596)|microtubule-based movement (GO:0007018)	ciliary rootlet (GO:0035253)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinesin I complex (GO:0016938)|membrane (GO:0016020)|microtubule (GO:0005874)|neuron projection (GO:0043005)|protein complex (GO:0043234)	kinesin binding (GO:0019894)|microtubule motor activity (GO:0003777)			breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	24						GGGATCAGAACAAGTACAAGG	0.597																																						ENST00000394065.2																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	24						c.(343-345)aaC>aaT		kinesin light chain 2							113	97	102					11																	66031140		2200	4295	6495	SO:0001819	synonymous_variant	64837				blood coagulation	cytosol|kinesin complex|microtubule	microtubule motor activity|protein binding	g.chr11:66031140C>T	AK022449	CCDS8130.1, CCDS44653.1	11q13.1	2013-01-10			ENSG00000174996	ENSG00000174996		"Tetratricopeptide (TTC) repeat domain containing"	20716	protein-coding gene	gene with protein product		611729				9624122	Standard	NM_022822		Approved	FLJ12387	uc001ohb.2	Q9H0B6	OTTHUMG00000133757	ENST00000417856.1:c.762C>T	11.37:g.66031140C>T						KLC2_ENST00000394078.1_Intron|KLC2_ENST00000316924.5_Silent_p.N254N|KLC2_ENST00000394067.2_Silent_p.N254N|KLC2_ENST00000421552.1_Silent_p.N177N|KLC2_ENST00000394066.2_Silent_p.N177N|KLC2_ENST00000417856.1_Silent_p.N254N	p.N115N			Q9H0B6	KLC2_HUMAN			4	1363	+			254					A8MXL7|B2RDY4|Q9H9C8|Q9HA20	Silent	SNP	ENST00000417856.1	37	c.345C>T	CCDS8130.1																																																																																				0.597	KLC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258200.1	NM_022822		13	16	0	0	0	1	0	13	16					T	66031140	C	T	66031140	2	4	435	1	0	0	0	0	0	0	0	1	8334	477	17	3		3	KLC2	11	66031140	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	52475	66031140	68975376	5258	26183											
RIN1	9610	broad.mit.edu	37	chr11	66102431	66102431	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagctggcaagggggcagcCgctctgtctggctggggact	5	7	18	11	1	2	0	0	0	2	0	2	1	2	1	1	6	2	6	1	6	1	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:66102431C>T	ENST00000311320.4	-	6	965	c.839G>A	c.(838-840)cGg>cAg	p.R280Q	RIN1_ENST00000530056.1_Missense_Mutation_p.R175Q|RIN1_ENST00000424433.2_Missense_Mutation_p.R175Q|RIN1_ENST00000524804.1_5'Flank|RP11-867G23.12_ENST00000526655.1_RNA	NM_004292.2	NP_004283.2	Q13671	RIN1_HUMAN	Ras and Rab interactor 1	280					associative learning (GO:0008306)|endocytosis (GO:0006897)|memory (GO:0007613)|negative regulation of synaptic plasticity (GO:0031914)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)			breast(1)|central_nervous_system(3)|haematopoietic_and_lymphoid_tissue(1)|lung(8)|ovary(1)	14						AGGGGGCAGCCGCTCTGTCTG	0.701																																						ENST00000311320.4																			0				breast(1)|central_nervous_system(3)|haematopoietic_and_lymphoid_tissue(1)|lung(8)|ovary(1)	14						c.(838-840)cGg>cAg		Ras and Rab interactor 1							19	17	18					11																	66102431		2198	4291	6489	SO:0001583	missense	9610				endocytosis|signal transduction	cytoplasm|cytoskeleton|plasma membrane	GTPase activator activity|protein binding	g.chr11:66102431C>T	L36463	CCDS31614.1	11q13.2	2005-09-18				ENSG00000174791			18749	protein-coding gene	gene with protein product		605965				9144171, 1849280	Standard	NM_004292		Approved		uc001ohn.1	Q13671		ENST00000311320.4:c.839G>A	11.37:g.66102431C>T	ENSP00000310406:p.Arg280Gln					RIN1_ENST00000530056.1_Missense_Mutation_p.R175Q|RIN1_ENST00000424433.2_Missense_Mutation_p.R175Q|RP11-867G23.12_ENST00000526655.1_RNA	p.R280Q	NM_004292.2	NP_004283.2	Q13671	RIN1_HUMAN			6	965	-			280					O15010|Q00427|Q96CC8	Missense_Mutation	SNP	ENST00000311320.4	37	c.839G>A	CCDS31614.1	.	.	.	.	.	.	.	.	.	.	C	8.310	0.822003	0.16678	.	.	ENSG00000174791	ENST00000311320;ENST00000424433;ENST00000530056	T;T;T	0.13901	3.1;2.96;2.55	4.26	2.21	0.28008	.	0.592334	0.16578	N	0.208337	T	0.08758	0.0217	L	0.50333	1.59	0.09310	N	1	P;P	0.43352	0.585;0.804	B;B	0.30251	0.113;0.057	T	0.26292	-1.0107	10	0.25751	T	0.34	-10.0368	6.4896	0.22107	0.0:0.7049:0.1846:0.1106	.	175;280	E9PNR2;Q13671	.;RIN1_HUMAN	Q	280;175;175	ENSP00000310406:R280Q;ENSP00000400560:R175Q;ENSP00000432798:R175Q	ENSP00000310406:R280Q	R	-	2	0	RIN1	65859007	0.002000	0.14202	0.008000	0.14137	0.164000	0.22412	1.425000	0.34859	0.918000	0.36919	0.462000	0.41574	CGG		0.701	RIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392980.2	NM_004292		4	7	0	0	0	1	0	4	7					T	66102431	C	T	66102431	3	4	435	1	0	0	0	0	1	0	0	0	13371	652	23	2	1532	2	RIN1	11	66102431	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	71291	66102431	68904085	5259	26184											
BRMS1	25855	broad.mit.edu	37	chr11	66108293	66108293	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctcctccagcctctggatccGctcctgcagctccccctgca	4	9	7	21	1	1	0	0	0	1	0	6	1	6	1	7	1	4	4	7	1	0	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:66108293G>A	ENST00000359957.3	-	6	647	c.487C>T	c.(487-489)Cgg>Tgg	p.R163W	BRMS1_ENST00000425825.2_Missense_Mutation_p.R163W|RP11-867G23.12_ENST00000526655.1_RNA	NM_015399.3	NP_056214.1	Q9HCU9	BRMS1_HUMAN	breast cancer metastasis suppressor 1	163					apoptotic process (GO:0006915)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of anoikis (GO:2000210)|positive regulation of protein deacetylation (GO:0090312)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	NF-kappaB binding (GO:0051059)			large_intestine(1)|liver(1)|lung(1)|prostate(1)|skin(1)	5						CTCTGGATCCGCTCCTGCAGC	0.657																																					GBM(7;55 307 2662 20856 28942)	ENST00000359957.3																			0				large_intestine(1)|liver(1)|lung(1)|prostate(1)|skin(1)	5						c.(487-489)Cgg>Tgg		breast cancer metastasis suppressor 1							31	28	29					11																	66108293		2200	4295	6495	SO:0001583	missense	25855				apoptosis|negative regulation of anti-apoptosis|negative regulation of NF-kappaB transcription factor activity|negative regulation of transcription, DNA-dependent|positive regulation of anoikis|positive regulation of protein deacetylation|transcription, DNA-dependent	cytoplasm|nucleus	NF-kappaB binding	g.chr11:66108293G>A	AF147350	CCDS8135.1, CCDS44654.1	11q13-q13.2	2008-02-05				ENSG00000174744			17262	protein-coding gene	gene with protein product		606259				10850410	Standard	XM_005273883		Approved	DKFZP564A063	uc001oho.1	Q9HCU9		ENST00000359957.3:c.487C>T	11.37:g.66108293G>A	ENSP00000353042:p.Arg163Trp					BRMS1_ENST00000425825.2_Missense_Mutation_p.R163W	p.R163W	NM_015399.3	NP_056214.1	Q9HCU9	BRMS1_HUMAN			6	647	-			163					Q6IAI2	Missense_Mutation	SNP	ENST00000359957.3	37	c.487C>T	CCDS8135.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	23.5|23.5	4.427647|4.427647	0.83667|0.83667	.|.	.|.	ENSG00000174744|ENSG00000174744	ENST00000524699|ENST00000425825;ENST00000359957;ENST00000530756	.|.	.|.	.|.	4.97|4.97	4.97|4.97	0.65823|0.65823	.|.	.|0.063689	.|0.64402	.|D	.|0.000014	T|T	0.69015|0.69015	0.3064|0.3064	L|L	0.43923|0.43923	1.385|1.385	0.54753|0.54753	D|D	0.99998|0.99998	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.74023	.|0.981;0.982	T|T	0.72350|0.72350	-0.4320|-0.4320	5|9	.|0.87932	.|D	.|0	-32.2834|-32.2834	15.6977|15.6977	0.77512|0.77512	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|163;163	.|Q9HCU9;G5E9I4	.|BRMS1_HUMAN;.	V|W	125|163	.|.	.|ENSP00000353042:R163W	A|R	-|-	2|1	0|2	BRMS1|BRMS1	65864869|65864869	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	3.669000|3.669000	0.54561|0.54561	2.318000|2.318000	0.78349|0.78349	0.455000|0.455000	0.32223|0.32223	GCG|CGG		0.657	BRMS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392958.2	NM_015399		22	26	0	0	0	1	0	22	26					A	66108293	G	A	66108293	3	1	435	1	0	0	0	0	1	0	0	0	1516	1086	38	1	417	1	BRMS1	11	66108293	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	5862	66108293	68898223	5260	26185											
B3GNT1	11041	broad.mit.edu	37	chr11	66114449	66114449	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccgggctgggccaccctggCtagcttgtcaaagacctcct	6	8	11	16	1	1	1	1	0	0	1	2	1	2	1	5	3	1	3	5	3	2	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:66114449C>T	ENST00000311181.4	-	1	714	c.568G>A	c.(568-570)Gcc>Acc	p.A190T	BRMS1_ENST00000425825.2_5'Flank|BRMS1_ENST00000359957.3_5'Flank|RP11-867G23.8_ENST00000531602.1_5'Flank	NM_006876.2	NP_006867.1	O43505	B3GN1_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 1	190					axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|poly-N-acetyllactosamine biosynthetic process (GO:0030311)|protein glycosylation (GO:0006486)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)	N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase activity (GO:0008532)			breast(2)|kidney(1)|large_intestine(2)|lung(6)|urinary_tract(1)	12						GCCACCCTGGCTAGCTTGTCA	0.642																																						ENST00000311181.4																			0				breast(2)|kidney(1)|large_intestine(2)|lung(6)|urinary_tract(1)	12						c.(568-570)Gcc>Acc		UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 1							37	36	36					11																	66114449		2200	4295	6495	SO:0001583	missense	11041				poly-N-acetyllactosamine biosynthetic process	integral to Golgi membrane	N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase activity	g.chr11:66114449C>T	AF029893	CCDS8136.1	11q13.2	2014-07-08	2006-04-12	2006-04-12	ENSG00000174684	ENSG00000174684	2.4.1.149	"Beta 3-glycosyltransferases"	15685	protein-coding gene	gene with protein product	"N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase"	605517	"UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 6"	B3GNT6		9405606	Standard	NM_006876		Approved	iGNT, iGAT, iGnT, BETA3GNTI, B3GN-T1	uc001ohr.3	O43505	OTTHUMG00000167082	ENST00000311181.4:c.568G>A	11.37:g.66114449C>T	ENSP00000309096:p.Ala190Thr						p.A190T	NM_006876.2	NP_006867.1	O43505	B3GN1_HUMAN			1	714	-			190					Q4TTN0	Missense_Mutation	SNP	ENST00000311181.4	37	c.568G>A	CCDS8136.1	.	.	.	.	.	.	.	.	.	.	C	13.48	2.248379	0.39797	.	.	ENSG00000174684	ENST00000311181	T	0.22743	1.94	5.31	5.31	0.75309	.	0.275494	0.35585	N	0.003107	T	0.17450	0.0419	L	0.43152	1.355	0.45015	D	0.998036	P	0.36438	0.553	B	0.32465	0.146	T	0.03695	-1.1012	10	0.09084	T	0.74	-26.205	16.8241	0.85926	0.0:1.0:0.0:0.0	.	190	O43505	B3GN1_HUMAN	T	190	ENSP00000309096:A190T	ENSP00000309096:A190T	A	-	1	0	B3GNT1	65871025	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	4.410000	0.59774	2.657000	0.90304	0.462000	0.41574	GCC		0.642	B3GNT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392959.1	NM_006876		8	30	0	0	0	1	0	8	30					T	66114449	C	T	66114449	3	4	435	1	0	0	0	0	1	0	0	0	1256	797	28	3	687	3	B3GNT1	11	66114449	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	6156	66114449	68892067	5261	26186											
SLC29A2	3177	broad.mit.edu	37	chr11	66136900	66136900	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggggcagctgggacagcagcGtcacccaattgttgaagttg	9	8	15	9	1	1	1	1	1	0	0	1	2	1	2	1	3	3	5	1	3	2	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:66136900G>A	ENST00000357440.2	-	3	443	c.215C>T	c.(214-216)aCg>aTg	p.T72M	SLC29A2_ENST00000544554.1_Missense_Mutation_p.T72M|SLC29A2_ENST00000311161.7_Missense_Mutation_p.T72M|SLC29A2_ENST00000546034.1_Missense_Mutation_p.T72M	NM_001532.2	NP_001523.2	Q14542	S29A2_HUMAN	solute carrier family 29 (equilibrative nucleoside transporter), member 2	72					cell proliferation (GO:0008283)|nucleobase-containing compound metabolic process (GO:0006139)|nucleoside transmembrane transport (GO:1901642)|nucleoside transport (GO:0015858)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of plasma membrane (GO:0005887)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	nucleoside transmembrane transporter activity (GO:0005337)			breast(1)|kidney(2)|large_intestine(2)|lung(1)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	10					Didanosine(DB00900)|Gemcitabine(DB00441)|Mercaptopurine(DB01033)|Zalcitabine(DB00943)|Zidovudine(DB00495)	GGACAGCAGCGTCACCCAATT	0.647																																						ENST00000357440.2																			0				breast(1)|kidney(2)|large_intestine(2)|lung(1)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	10						c.(214-216)aCg>aTg		solute carrier family 29 (equilibrative nucleoside transporter), member 2							189	171	177					11																	66136900		2200	4295	6495	SO:0001583	missense	3177				cell proliferation|nucleobase, nucleoside and nucleotide metabolic process	basolateral plasma membrane|integral to plasma membrane|nuclear membrane|nucleolus	nucleoside transmembrane transporter activity	g.chr11:66136900G>A	X86681	CCDS8137.1, CCDS73326.1	11q13	2013-07-17	2013-07-17		ENSG00000174669	ENSG00000174669		"Solute carriers"	11004	protein-coding gene	gene with protein product		602110	"solute carrier family 29 (nucleoside transporters), member 2"	ENT2, HNP36		9192854, 9478986	Standard	NM_001532		Approved	DER12	uc001oht.3	Q14542	OTTHUMG00000169056	ENST00000357440.2:c.215C>T	11.37:g.66136900G>A	ENSP00000350024:p.Thr72Met					SLC29A2_ENST00000544554.1_Missense_Mutation_p.T72M|SLC29A2_ENST00000311161.7_Missense_Mutation_p.T72M|SLC29A2_ENST00000546034.1_Missense_Mutation_p.T72M	p.T72M	NM_001532.2	NP_001523.2	Q14542	S29A2_HUMAN			3	443	-			72					B3KPY7|O43530|Q52M84|Q96R00|Q9UPE0	Missense_Mutation	SNP	ENST00000357440.2	37	c.215C>T	CCDS8137.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.035766	0.75617	.	.	ENSG00000174669	ENST00000311161;ENST00000357440;ENST00000544554;ENST00000546034	T;T;T;T	0.24723	1.84;1.84;1.84;1.84	5.0	5.0	0.66597	.	0.111297	0.64402	D	0.000012	T	0.52125	0.1715	M	0.78285	2.405	0.54753	D	0.999989	D;D	0.89917	1.0;1.0	D;D	0.69824	0.966;0.939	T	0.57871	-0.7736	10	0.87932	D	0	-12.5455	15.864	0.79047	0.0:0.0:1.0:0.0	.	72;72	G5E943;Q14542	.;S29A2_HUMAN	M	72	ENSP00000311250:T72M;ENSP00000350024:T72M;ENSP00000439456:T72M;ENSP00000440329:T72M	ENSP00000311250:T72M	T	-	2	0	SLC29A2	65893476	1.000000	0.71417	0.977000	0.42913	0.989000	0.77384	5.051000	0.64257	2.345000	0.79718	0.555000	0.69702	ACG		0.647	SLC29A2-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402093.1	NM_001532		4	131	0	0	0	1	0	4	131					A	66136900	G	A	66136900	3	1	435	1	0	0	0	0	1	0	0	0	14535	1145	40	1	1195	1	SLC29A2	11	66136900	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	22451	66136900	68869616	5262	26187											
NPAS4	266743	broad.mit.edu	37	chr11	66190620	66190620	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aatctacctgggctttgagcGcagtgaactgctttgtaaat	10	13	10	8	1	1	2	0	2	1	0	1	2	1	2	1	1	4	4	1	1	5	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:66190620G>A	ENST00000311034.2	+	5	901	c.725G>A	c.(724-726)cGc>cAc	p.R242H		NM_178864.3	NP_849195.2	Q8IUM7	NPAS4_HUMAN	neuronal PAS domain protein 4	242	PAS 2. {ECO:0000255|PROSITE- ProRule:PRU00140}.				positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|signal transducer activity (GO:0004871)			breast(4)|endometrium(2)|kidney(3)|large_intestine(11)|liver(2)|lung(20)|ovary(1)|prostate(3)|skin(3)	49						GGCTTTGAGCGCAGTGAACTG	0.542																																						ENST00000311034.2																			0				breast(4)|endometrium(2)|kidney(3)|large_intestine(11)|liver(2)|lung(20)|ovary(1)|prostate(3)|skin(3)	49						c.(724-726)cGc>cAc		neuronal PAS domain protein 4							111	86	94					11																	66190620		2200	4295	6495	SO:0001583	missense	266743				transcription, DNA-dependent		DNA binding|signal transducer activity	g.chr11:66190620G>A	AB049469	CCDS8138.1	11q13.2	2013-05-21			ENSG00000174576	ENSG00000174576		"Basic helix-loop-helix proteins"	18983	protein-coding gene	gene with protein product		608554				14701734	Standard	NM_178864		Approved	PASD10, NXF, Le-PAS, bHLHe79	uc001ohx.1	Q8IUM7	OTTHUMG00000167045	ENST00000311034.2:c.725G>A	11.37:g.66190620G>A	ENSP00000311196:p.Arg242His						p.R242H	NM_178864.3	NP_849195.2	Q8IUM7	NPAS4_HUMAN			5	901	+			242			PAS 2.		B7ZL81|Q8N8S5|Q8N9Q9	Missense_Mutation	SNP	ENST00000311034.2	37	c.725G>A	CCDS8138.1	.	.	.	.	.	.	.	.	.	.	G	15.08	2.726712	0.48833	.	.	ENSG00000174576	ENST00000311034	T	0.18502	2.21	5.65	4.71	0.59529	PAS fold-3 (1);PAS (2);	0.116186	0.37095	N	0.002260	T	0.14743	0.0356	L	0.43923	1.385	0.37304	D	0.908813	B	0.06786	0.001	B	0.06405	0.002	T	0.06661	-1.0814	10	0.62326	D	0.03	-3.4567	7.6781	0.28497	0.1989:0.0:0.8011:0.0	.	242	Q8IUM7	NPAS4_HUMAN	H	242	ENSP00000311196:R242H	ENSP00000311196:R242H	R	+	2	0	NPAS4	65947196	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.378000	0.34328	1.304000	0.44892	0.650000	0.86243	CGC		0.542	NPAS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392634.1	NM_178864		16	17	0	0	0	1	0	16	17					A	66190620	G	A	66190620	3	1	435	1	0	0	0	0	1	0	0	0	10565	1087	38	1	743	1	NPAS4	11	66190620	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	53720	66190620	68815896	5263	26188											
NPAS4	266743	broad.mit.edu	37	chr11	66191876	66191876	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaccagttgactccctgcacCtccaccttcccagaccagct	8	8	6	19	0	0	2	0	1	0	1	3	3	3	2	7	0	2	3	7	0	0	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:66191876C>A	ENST00000311034.2	+	7	1691	c.1515C>A	c.(1513-1515)acC>acA	p.T505T		NM_178864.3	NP_849195.2	Q8IUM7	NPAS4_HUMAN	neuronal PAS domain protein 4	505					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|signal transducer activity (GO:0004871)			breast(4)|endometrium(2)|kidney(3)|large_intestine(11)|liver(2)|lung(20)|ovary(1)|prostate(3)|skin(3)	49						CTCCCTGCACCTCCACCTTCC	0.587																																						ENST00000311034.2																			0				breast(4)|endometrium(2)|kidney(3)|large_intestine(11)|liver(2)|lung(20)|ovary(1)|prostate(3)|skin(3)	49						c.(1513-1515)acC>acA		neuronal PAS domain protein 4							198	194	195					11																	66191876		2200	4295	6495	SO:0001819	synonymous_variant	266743				transcription, DNA-dependent		DNA binding|signal transducer activity	g.chr11:66191876C>A	AB049469	CCDS8138.1	11q13.2	2013-05-21			ENSG00000174576	ENSG00000174576		"Basic helix-loop-helix proteins"	18983	protein-coding gene	gene with protein product		608554				14701734	Standard	NM_178864		Approved	PASD10, NXF, Le-PAS, bHLHe79	uc001ohx.1	Q8IUM7	OTTHUMG00000167045	ENST00000311034.2:c.1515C>A	11.37:g.66191876C>A							p.T505T	NM_178864.3	NP_849195.2	Q8IUM7	NPAS4_HUMAN			7	1691	+			505					B7ZL81|Q8N8S5|Q8N9Q9	Silent	SNP	ENST00000311034.2	37	c.1515C>A	CCDS8138.1																																																																																				0.587	NPAS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392634.1	NM_178864		71	108	1	0	2.23852e-25	1	2.49964e-25	71	108					A	66191876	C	A	66191876	2	1	435	1	0	0	0	0	0	0	0	1	10565	668	24	5		5	NPAS4	11	66191876	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	1256	66191876	68814640	5264	26189											
MRPL11	65003	broad.mit.edu	37	chr11	66203543	66203543	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgagcagccaggaagatggCtcgttccttctggaaagctg	9	9	13	10	1	1	2	0	1	1	1	3	4	2	4	2	3	3	4	2	3	2	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:66203543C>T	ENST00000310999.7	-	5	607	c.514G>A	c.(514-516)Gcc>Acc	p.A172T	MRPL11_ENST00000524576.1_5'UTR|MRPL11_ENST00000329819.4_3'UTR|MRPL11_ENST00000430466.2_Missense_Mutation_p.A146T	NM_016050.3	NP_057134.1	Q9Y3B7	RM11_HUMAN	mitochondrial ribosomal protein L11	172					translation (GO:0006412)	mitochondrial ribosome (GO:0005761)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			endometrium(3)|lung(2)|ovary(1)|prostate(1)	7						AGGAAGATGGCTCGTTCCTTC	0.527																																						ENST00000310999.7																			0				endometrium(3)|lung(2)|ovary(1)|prostate(1)	7						c.(514-516)Gcc>Acc		mitochondrial ribosomal protein L11							58	51	53					11																	66203543		2200	4295	6495	SO:0001583	missense	65003				translation		structural constituent of ribosome	g.chr11:66203543C>T	AB051338	CCDS8139.1, CCDS8140.1, CCDS44655.1	11q13.2	2012-11-14			ENSG00000174547	ENSG00000174547		"Mitochondrial ribosomal proteins / large subunits"	14042	protein-coding gene	gene with protein product		611826					Standard	XR_247672		Approved		uc001ohz.4	Q9Y3B7	OTTHUMG00000167097	ENST00000310999.7:c.514G>A	11.37:g.66203543C>T	ENSP00000308897:p.Ala172Thr					MRPL11_ENST00000329819.4_3'UTR|MRPL11_ENST00000430466.2_Missense_Mutation_p.A146T|MRPL11_ENST00000524576.1_5'UTR	p.A172T	NM_016050.3	NP_057134.1	Q9Y3B7	RM11_HUMAN			5	607	-			172					A6NLT0|A8K219|Q32P46|Q96Q73	Missense_Mutation	SNP	ENST00000310999.7	37	c.514G>A	CCDS8139.1	.	.	.	.	.	.	.	.	.	.	C	14.81	2.646116	0.47258	.	.	ENSG00000174547	ENST00000310999;ENST00000430466	.	.	.	5.37	5.37	0.77165	.	0.165679	0.53938	D	0.000060	T	0.37625	0.1010	N	0.08118	0	0.80722	D	1	B;B	0.27229	0.123;0.172	B;B	0.18871	0.023;0.015	T	0.32241	-0.9914	9	0.51188	T	0.08	-15.9218	14.6188	0.68569	0.0:1.0:0.0:0.0	.	146;172	Q9Y3B7-2;Q9Y3B7	.;RM11_HUMAN	T	172;146	.	ENSP00000308897:A172T	A	-	1	0	MRPL11	65960119	0.998000	0.40836	0.989000	0.46669	0.752000	0.42762	3.351000	0.52232	2.502000	0.84385	0.650000	0.86243	GCC		0.527	MRPL11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393098.2	NM_016050		29	35	0	0	0	1	0	29	35					T	66203543	C	T	66203543	3	4	435	1	0	0	0	0	1	0	0	0	9776	797	28	3	68	3	MRPL11	11	66203543	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	11667	66203543	68802973	5265	26190											
DPP3	10072	broad.mit.edu	37	chr11	66259054	66259054	+	Silent	SNP	C	C	T																															atcgaggcccacaagaggggCtcccgcttctggatccagga																										TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:66259054C>T	ENST00000360510.2	+	8	953	c.888C>T	c.(886-888)ggC>ggT	p.G296G	DPP3_ENST00000531863.1_Silent_p.G316G|DPP3_ENST00000530165.1_Silent_p.G266G|DPP3_ENST00000532677.1_Silent_p.G315G|DPP3_ENST00000541961.1_Silent_p.G296G|DPP3_ENST00000453114.1_Silent_p.G296G			Q9NY33	DPP3_HUMAN	dipeptidyl-peptidase 3	296					proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	dipeptidyl-peptidase activity (GO:0008239)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)	23						ACAAGAGGGGCTCCCGCTTCT	0.657											OREG0021109	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000532677.1																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)	23						c.(943-945)ggC>ggT		dipeptidyl-peptidase 3							35	42	39					11																	66259054		2200	4295	6495	SO:0001819	synonymous_variant	10072				proteolysis	cytoplasm	aminopeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity	g.chr11:66259054C>T	AB017970	CCDS8141.1, CCDS58147.1	11q12-q13.1	2008-02-05	2006-01-12		ENSG00000254986	ENSG00000254986	3.4.14.4		3008	protein-coding gene	gene with protein product		606818	"dipeptidylpeptidase III", "dipeptidylpeptidase 3"			10773679	Standard	NM_005700		Approved		uc001oif.2	Q9NY33	OTTHUMG00000167143	ENST00000360510.2:c.888C>T	11.37:g.66259054C>T			OREG0021109	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1090	DPP3_ENST00000541961.1_Silent_p.G296G|DPP3_ENST00000531863.1_Silent_p.G316G|DPP3_ENST00000453114.1_Silent_p.G296G|DPP3_ENST00000360510.2_Silent_p.G296G|DPP3_ENST00000530165.1_Silent_p.G266G	p.G315G	NM_001256670.1|NM_005700.4|NM_130443.3	NP_001243599.1|NP_005691.2|NP_569710.2	Q9NY33	DPP3_HUMAN			8	1346	+			296					B2RDB5|B4DLX4|F5H8L6|O95748|Q969H2|Q9BV67|Q9HAL6	Silent	SNP	ENST00000360510.2	37	c.945C>T	CCDS8141.1																																																																																				0.657	DPP3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393424.2			8	12	0	0	0	1	0	8	12					T	66259054	C	T	66259054	2	4	435	1	0	0	0	0	0	0	0	1	4728	784	28	3		3	DPP3	11	66259054	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	55511	66259054	68747462	5266	26191	124	2									
DPP3	10072	broad.mit.edu	37	chr11	66259059	66259059	+	Missense_Mutation	SNP	G	G	A																															ggcccacaagaggggctcccGcttctggatccaggacaaag																								rs201367893		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:66259059G>A	ENST00000360510.2	+	8	958	c.893G>A	c.(892-894)cGc>cAc	p.R298H	DPP3_ENST00000531863.1_Missense_Mutation_p.R318H|DPP3_ENST00000530165.1_Missense_Mutation_p.R268H|DPP3_ENST00000532677.1_Missense_Mutation_p.R317H|DPP3_ENST00000541961.1_Missense_Mutation_p.R298H|DPP3_ENST00000453114.1_Missense_Mutation_p.R298H			Q9NY33	DPP3_HUMAN	dipeptidyl-peptidase 3	298					proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	dipeptidyl-peptidase activity (GO:0008239)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)	23						AGGGGCTCCCGCTTCTGGATC	0.652											OREG0021109	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G|||	1	0.000199681	0	0	5008	,	,		12884	0.001		0	False		,,,				2504	0					ENST00000532677.1																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)	23						c.(949-951)cGc>cAc		dipeptidyl-peptidase 3							37	44	42					11																	66259059		2200	4295	6495	SO:0001583	missense	10072				proteolysis	cytoplasm	aminopeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity	g.chr11:66259059G>A	AB017970	CCDS8141.1, CCDS58147.1	11q12-q13.1	2008-02-05	2006-01-12		ENSG00000254986	ENSG00000254986	3.4.14.4		3008	protein-coding gene	gene with protein product		606818	"dipeptidylpeptidase III", "dipeptidylpeptidase 3"			10773679	Standard	NM_005700		Approved		uc001oif.2	Q9NY33	OTTHUMG00000167143	ENST00000360510.2:c.893G>A	11.37:g.66259059G>A	ENSP00000353701:p.Arg298His		OREG0021109	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1090	DPP3_ENST00000541961.1_Missense_Mutation_p.R298H|DPP3_ENST00000531863.1_Missense_Mutation_p.R318H|DPP3_ENST00000453114.1_Missense_Mutation_p.R298H|DPP3_ENST00000360510.2_Missense_Mutation_p.R298H|DPP3_ENST00000530165.1_Missense_Mutation_p.R268H	p.R317H	NM_001256670.1|NM_005700.4|NM_130443.3	NP_001243599.1|NP_005691.2|NP_569710.2	Q9NY33	DPP3_HUMAN			8	1351	+			298					B2RDB5|B4DLX4|F5H8L6|O95748|Q969H2|Q9BV67|Q9HAL6	Missense_Mutation	SNP	ENST00000360510.2	37	c.950G>A	CCDS8141.1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.500748	0.85176	.	.	ENSG00000254986	ENST00000531863;ENST00000532677;ENST00000360510;ENST00000453114;ENST00000541961;ENST00000530165;ENST00000543807	T;T;T;T;T;T	0.26223	1.75;1.75;1.75;1.75;1.75;1.75	5.21	3.3	0.37823	.	0.158785	0.56097	N	0.000037	T	0.49745	0.1575	M	0.91818	3.245	0.46749	D	0.999188	D;D	0.89917	1.0;0.989	P;P	0.59825	0.864;0.784	T	0.56643	-0.7945	10	0.87932	D	0	.	7.5635	0.27866	0.2709:0.0:0.7291:0.0	.	317;298	G3V1D3;Q9NY33	.;DPP3_HUMAN	H	318;317;298;298;298;268;196	ENSP00000432782:R318H;ENSP00000435284:R317H;ENSP00000353701:R298H;ENSP00000389943:R298H;ENSP00000440502:R298H;ENSP00000436941:R268H	ENSP00000353701:R298H	R	+	2	0	DPP3	66015635	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.670000	0.61583	1.324000	0.45282	0.655000	0.94253	CGC		0.652	DPP3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393424.2			10	9	0	0	0	1	0	10	9					A	66259059	G	A	66259059	3	1	435	1	0	0	0	0	1	0	0	0	4728	1087	38	1	919	1	DPP3	11	66259059	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	5	66259059	68747457	5267	26192	124	2									
ACTN3	8722	broad.mit.edu	37	chr11	66329000	66329000	+	IGR	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gctgggctacggcagcaggaGcagaacattatcaactacaa	14	6	11	10	1	1	1	1	0	0	1	1	2	1	2	0	3	6	5	0	3	6	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:66329000G>T	ENST00000310325.5	-	0	2035				ACTN3_ENST00000502692.1_RNA|CTD-3074O7.2_ENST00000504911.1_lincRNA|ACTN3_ENST00000513398.1_RNA	NM_003793.3	NP_003784.2	Q9UBX1	CATF_HUMAN	cathepsin F						antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|proteolysis (GO:0006508)	extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)|vesicle (GO:0031982)	cysteine-type endopeptidase activity (GO:0004197)			endometrium(1)|large_intestine(7)|lung(8)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	19						GGCAGCAGGAGCAGAACATTA	0.597																																						ENST00000513398.1																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(2)	10								actinin, alpha 3 (gene/pseudogene)							39	42	41					11																	66329000		2081	4221	6302	SO:0001628	intergenic_variant	89				focal adhesion assembly|muscle filament sliding|regulation of apoptosis	actin filament|cytosol|focal adhesion|pseudopodium	actin binding|calcium ion binding|integrin binding|protein homodimerization activity|structural constituent of muscle	g.chr11:66329000G>T	AF071749	CCDS8144.1	11q13.2	2012-02-29			ENSG00000174080	ENSG00000174080		"Cathepsins"	2531	protein-coding gene	gene with protein product		603539				9822672, 10318784	Standard	NM_003793		Approved	CATSF, CLN13	uc001oip.3	Q9UBX1	OTTHUMG00000167090		11.37:g.66329000G>T						ACTN3_ENST00000502692.1_RNA		NM_001104.2	NP_001095.1	Q08043	ACTN3_HUMAN			0	2164	+								B2R964|O95240|Q9NSU4|Q9UKQ5	RNA	SNP	ENST00000310325.5	37		CCDS8144.1																																																																																				0.597	CTSF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393047.1	NM_003793		6	9	1	0	0.0215528	1	0.0217053	6	9					T	66329000	G	T	66329000	1	4	435	0	1	0	0	0	0	0	0	0	206	962	34	5		5	ACTN3	11	66329000	IGR	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	69941	66329000	68677516	5268	26193											
CTSF	8722	broad.mit.edu	37	chr11	66333587	66333587	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tggcttgcttcatcttgttgCcaggctctttcctcaggaga	5	15	10	11	0	4	1	2	0	2	1	5	2	5	1	2	3	2	4	2	3	0	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:66333587C>T	ENST00000310325.5	-	6	882	c.773G>A	c.(772-774)gGc>gAc	p.G258D	ACTN3_ENST00000502692.1_RNA|CTSF_ENST00000533168.1_5'Flank|ACTN3_ENST00000513398.1_RNA	NM_003793.3	NP_003784.2	Q9UBX1	CATF_HUMAN	cathepsin F	258					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|proteolysis (GO:0006508)	extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)|vesicle (GO:0031982)	cysteine-type endopeptidase activity (GO:0004197)			endometrium(1)|large_intestine(7)|lung(8)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	19						CATCTTGTTGCCAGGCTCTTT	0.552																																						ENST00000310325.5																			0				endometrium(1)|large_intestine(7)|lung(8)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	19						c.(772-774)gGc>gAc		cathepsin F							117	114	115					11																	66333587		2200	4295	6495	SO:0001583	missense	8722				proteolysis	lysosome	cysteine-type endopeptidase activity	g.chr11:66333587C>T	AF071749	CCDS8144.1	11q13.2	2012-02-29			ENSG00000174080	ENSG00000174080		"Cathepsins"	2531	protein-coding gene	gene with protein product		603539				9822672, 10318784	Standard	NM_003793		Approved	CATSF, CLN13	uc001oip.3	Q9UBX1	OTTHUMG00000167090	ENST00000310325.5:c.773G>A	11.37:g.66333587C>T	ENSP00000310832:p.Gly258Asp						p.G258D	NM_003793.3	NP_003784.2	Q9UBX1	CATF_HUMAN			6	882	-			258					B2R964|O95240|Q9NSU4|Q9UKQ5	Missense_Mutation	SNP	ENST00000310325.5	37	c.773G>A	CCDS8144.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	4.892|4.892	0.165735|0.165735	0.09339|0.09339	.|.	.|.	ENSG00000174080|ENSG00000174080	ENST00000310325|ENST00000524994	T|.	0.21734|.	1.99|.	5.84|5.84	3.96|3.96	0.45880|0.45880	.|.	1.167000|.	0.06117|.	N|.	0.668163|.	T|.	0.22781|.	0.0550|.	N|N	0.16903|0.16903	0.455|0.455	0.09310|0.09310	N|N	1|1	B|.	0.15473|.	0.013|.	B|.	0.14023|.	0.01|.	T|.	0.20338|.	-1.0278|.	10|.	0.14656|.	T|.	0.56|.	.|.	7.1691|7.1691	0.25708|0.25708	0.3024:0.6194:0.0:0.0783|0.3024:0.6194:0.0:0.0783	.|.	258|.	Q9UBX1|.	CATF_HUMAN|.	D|X	258|105	ENSP00000310832:G258D|.	ENSP00000310832:G258D|.	G|W	-|-	2|3	0|0	CTSF|CTSF	66090163|66090163	0.000000|0.000000	0.05858|0.05858	0.001000|0.001000	0.08648|0.08648	0.037000|0.037000	0.13140|0.13140	-0.106000|-0.106000	0.10890|0.10890	0.807000|0.807000	0.34208|0.34208	0.591000|0.591000	0.81541|0.81541	GGC|TGG		0.552	CTSF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393047.1	NM_003793		14	25	0	0	0	1	0	14	25					T	66333587	C	T	66333587	3	4	435	1	0	0	0	0	1	0	0	0	4034	739	26	3	713	3	CTSF	11	66333587	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	4587	66333587	68672929	5269	26194											
CCDC87	55231	broad.mit.edu	37	chr11	66358114	66358114	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	actggctcgccaaagattaaCtctatctcctccaggaggga	11	9	9	12	1	2	1	0	0	2	1	5	3	3	3	3	3	1	1	3	3	3	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:66358114C>A	ENST00000333861.3	-	1	2440	c.2373G>T	c.(2371-2373)gaG>gaT	p.E791D	CCS_ENST00000533244.1_5'Flank|CCS_ENST00000310190.4_5'Flank	NM_018219.2	NP_060689.2	Q9NVE4	CCD87_HUMAN	coiled-coil domain containing 87	791					cytokinesis (GO:0000910)|microtubule cytoskeleton organization (GO:0000226)					central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						CAAAGATTAACTCTATCTCCT	0.522																																						ENST00000333861.3																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						c.(2371-2373)gaG>gaT		coiled-coil domain containing 87							142	150	147					11																	66358114		2200	4295	6495	SO:0001583	missense	55231							g.chr11:66358114C>A	BC034469	CCDS8145.1	11q13.2	2006-03-15			ENSG00000182791	ENSG00000182791			25579	protein-coding gene	gene with protein product						12477932	Standard	NM_018219		Approved	FLJ10786	uc001oiq.4	Q9NVE4	OTTHUMG00000167237	ENST00000333861.3:c.2373G>T	11.37:g.66358114C>A	ENSP00000328487:p.Glu791Asp						p.E791D	NM_018219.2	NP_060689.2	Q9NVE4	CCD87_HUMAN			1	2440	-			791					Q8NE76	Missense_Mutation	SNP	ENST00000333861.3	37	c.2373G>T	CCDS8145.1	.	.	.	.	.	.	.	.	.	.	C	13.61	2.288501	0.40494	.	.	ENSG00000182791	ENST00000333861	T	0.36340	1.26	5.6	3.74	0.42951	.	0.428025	0.19095	N	0.122842	T	0.47040	0.1424	M	0.68952	2.095	0.21355	N	0.999715	P	0.51240	0.943	P	0.54431	0.752	T	0.31447	-0.9943	10	0.45353	T	0.12	.	8.679	0.34196	0.0:0.8247:0.0:0.1753	.	791	Q9NVE4	CCD87_HUMAN	D	791	ENSP00000328487:E791D	ENSP00000328487:E791D	E	-	3	2	CCDC87	66114690	0.180000	0.23148	0.086000	0.20670	0.462000	0.32619	0.812000	0.27211	0.736000	0.32559	0.561000	0.74099	GAG		0.522	CCDC87-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393825.1	NM_018219		61	126	1	0	1.1362e-29	1	1.27275e-29	61	126					A	66358114	C	A	66358114	3	1	435	1	0	0	0	0	1	0	0	0	2862	564	20	5	180	5	CCDC87	11	66358114	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	24527	66358114	68648402	5270	26195											
CCDC87	55231	broad.mit.edu	37	chr11	66358932	66358932	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggtcgaccagtctttatctgCtgcaggctcaactaggggcc	7	10	12	12	1	3	0	1	0	2	0	4	1	3	0	2	4	3	3	2	4	3	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:66358932C>A	ENST00000333861.3	-	1	1622	c.1555G>T	c.(1555-1557)Gca>Tca	p.A519S	CCS_ENST00000533244.1_5'Flank|CCS_ENST00000310190.4_5'Flank	NM_018219.2	NP_060689.2	Q9NVE4	CCD87_HUMAN	coiled-coil domain containing 87	519					cytokinesis (GO:0000910)|microtubule cytoskeleton organization (GO:0000226)					central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						TCTTTATCTGCTGCAGGCTCA	0.488																																						ENST00000333861.3																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						c.(1555-1557)Gca>Tca		coiled-coil domain containing 87							88	89	89					11																	66358932		2200	4295	6495	SO:0001583	missense	55231							g.chr11:66358932C>A	BC034469	CCDS8145.1	11q13.2	2006-03-15			ENSG00000182791	ENSG00000182791			25579	protein-coding gene	gene with protein product						12477932	Standard	NM_018219		Approved	FLJ10786	uc001oiq.4	Q9NVE4	OTTHUMG00000167237	ENST00000333861.3:c.1555G>T	11.37:g.66358932C>A	ENSP00000328487:p.Ala519Ser						p.A519S	NM_018219.2	NP_060689.2	Q9NVE4	CCD87_HUMAN			1	1622	-			519					Q8NE76	Missense_Mutation	SNP	ENST00000333861.3	37	c.1555G>T	CCDS8145.1	.	.	.	.	.	.	.	.	.	.	C	2.699	-0.271395	0.05716	.	.	ENSG00000182791	ENST00000333861	T	0.35605	1.3	5.16	0.52	0.17040	.	0.558525	0.14955	N	0.288707	T	0.23611	0.0571	L	0.41710	1.295	0.09310	N	1	B	0.27882	0.192	B	0.21151	0.033	T	0.13818	-1.0495	10	0.29301	T	0.29	.	7.0167	0.24892	0.3455:0.3521:0.3024:0.0	.	519	Q9NVE4	CCD87_HUMAN	S	519	ENSP00000328487:A519S	ENSP00000328487:A519S	A	-	1	0	CCDC87	66115508	0.001000	0.12720	0.030000	0.17652	0.083000	0.17756	-0.046000	0.11983	0.273000	0.22049	-0.502000	0.04539	GCA		0.488	CCDC87-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393825.1	NM_018219		42	55	1	0	2.2871e-25	1	2.55332e-25	42	55					A	66358932	C	A	66358932	3	1	435	1	0	0	0	0	1	0	0	0	2862	797	28	5	998	5	CCDC87	11	66358932	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	818	66358932	68647584	5271	26196											
CCDC87	55231	broad.mit.edu	37	chr11	66359023	66359023	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagacctccctggtagtactGccaacaaagttatcaatatc	13	11	6	11	0	1	1	1	0	0	1	3	1	2	1	3	1	3	3	3	1	8	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:66359023G>A	ENST00000333861.3	-	1	1531	c.1464C>T	c.(1462-1464)ggC>ggT	p.G488G	CCS_ENST00000533244.1_5'Flank|CCS_ENST00000310190.4_5'Flank	NM_018219.2	NP_060689.2	Q9NVE4	CCD87_HUMAN	coiled-coil domain containing 87	488					cytokinesis (GO:0000910)|microtubule cytoskeleton organization (GO:0000226)					central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						TGGTAGTACTGCCAACAAAGT	0.473																																						ENST00000333861.3																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						c.(1462-1464)ggC>ggT		coiled-coil domain containing 87							110	109	109					11																	66359023		2200	4295	6495	SO:0001819	synonymous_variant	55231							g.chr11:66359023G>A	BC034469	CCDS8145.1	11q13.2	2006-03-15			ENSG00000182791	ENSG00000182791			25579	protein-coding gene	gene with protein product						12477932	Standard	NM_018219		Approved	FLJ10786	uc001oiq.4	Q9NVE4	OTTHUMG00000167237	ENST00000333861.3:c.1464C>T	11.37:g.66359023G>A							p.G488G	NM_018219.2	NP_060689.2	Q9NVE4	CCD87_HUMAN			1	1531	-			488					Q8NE76	Silent	SNP	ENST00000333861.3	37	c.1464C>T	CCDS8145.1																																																																																				0.473	CCDC87-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393825.1	NM_018219		55	93	0	0	0	1	0	55	93					A	66359023	G	A	66359023	2	1	435	1	0	0	0	0	0	0	0	1	2862	1306	46	3		3	CCDC87	11	66359023	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	91	66359023	68647493	5272	26197											
RBM14	10432	broad.mit.edu	37	chr11	66392897	66392897	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caccctggcagctccttaccGcactcagtcatcagcctcat	8	9	6	18	1	4	0	4	0	0	0	5	0	5	0	4	1	3	3	4	1	1	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:66392897G>A	ENST00000310137.4	+	2	1689	c.1550G>A	c.(1549-1551)cGc>cAc	p.R517H	RBM14-RBM4_ENST00000511114.1_Intron|RBM4_ENST00000503028.2_Intron|RBM14_ENST00000409738.4_Intron|RBM14_ENST00000393979.3_Intron|RBM14-RBM4_ENST00000412278.2_Intron|RBM14-RBM4_ENST00000500635.2_Intron|RBM4_ENST00000514361.3_Intron	NM_006328.3	NP_006319.1	Q96PK6	RBM14_HUMAN	RNA binding motif protein 14	517	Ala-rich.				DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|glucocorticoid receptor signaling pathway (GO:0042921)|histone deacetylation (GO:0016575)|intracellular estrogen receptor signaling pathway (GO:0030520)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to hormone (GO:0009725)|transcription from RNA polymerase II promoter (GO:0006366)	mediator complex (GO:0016592)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|transcription factor complex (GO:0005667)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein binding, bridging (GO:0030674)|RNA binding (GO:0003723)|RNA polymerase II transcription cofactor activity (GO:0001104)		RBM14/PACS1(2)	breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	17						GCTCCTTACCGCACTCAGTCA	0.657																																						ENST00000310137.4																		RBM14/PACS1(2)	0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	17						c.(1549-1551)cGc>cAc		RNA binding motif protein 14							51	45	47					11																	66392897		2200	4295	6495	SO:0001583	missense	10432				DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|histone deacetylation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus	mediator complex|ribonucleoprotein complex|transcription factor complex	ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|protein binding, bridging|RNA binding|RNA polymerase II transcription cofactor activity	g.chr11:66392897G>A	AF080561	CCDS8147.1, CCDS55772.1, CCDS55773.1	11q13.2	2013-02-12			ENSG00000239306	ENSG00000239306		"RNA binding motif (RRM) containing"	14219	protein-coding gene	gene with protein product	"coactivator activator", "SYT interacting protein"	612409				9285794	Standard	NM_006328		Approved	SIP, SYTIP1, COAA, DKFZp779J0927	uc001oit.3	Q96PK6	OTTHUMG00000140380	ENST00000310137.4:c.1550G>A	11.37:g.66392897G>A	ENSP00000311747:p.Arg517His					RBM14-RBM4_ENST00000412278.2_Intron|RBM14_ENST00000409738.4_Intron|RBM14-RBM4_ENST00000500635.2_Intron|RBM4_ENST00000514361.3_Intron|RBM14_ENST00000393979.3_Intron|RBM4_ENST00000503028.2_Intron	p.R517H	NM_006328.3	NP_006319.1	Q96PK6	RBM14_HUMAN			2	1689	+			517			Ala-rich.		B0LM41|B3KMN4|D6RGD8|O75932|Q2PYN1|Q53GV1|Q68DQ9|Q96PK5	Missense_Mutation	SNP	ENST00000310137.4	37	c.1550G>A	CCDS8147.1	.	.	.	.	.	.	.	.	.	.	G	14.12	2.439440	0.43326	.	.	ENSG00000239306	ENST00000310137	D	0.84070	-1.8	5.75	5.75	0.90469	.	0.056980	0.64402	D	0.000001	D	0.83557	0.5280	N	0.14661	0.345	0.80722	D	1	D	0.65815	0.995	D	0.69479	0.964	D	0.86150	0.1587	10	0.87932	D	0	-3.8536	15.4418	0.75190	0.0:0.0:1.0:0.0	.	517	Q96PK6	RBM14_HUMAN	H	517	ENSP00000311747:R517H	ENSP00000311747:R517H	R	+	2	0	RBM14	66149473	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.014000	0.70784	2.720000	0.93068	0.655000	0.94253	CGC		0.657	RBM14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277128.1	NM_006328		14	30	0	0	0	1	0	14	30					A	66392897	G	A	66392897	3	1	435	1	0	0	0	0	1	0	0	0	13115	1087	38	1	1556	1	RBM14	11	66392897	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	33874	66392897	68613619	5273	26198											
RBM14	10432	broad.mit.edu	37	chr11	66393086	66393086	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccgccctatgagcgtacccGcctctccccaccccgggcca	5	5	9	22	4	1	1	0	1	1	0	2	1	1	1	9	1	2	1	9	1	2	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:66393086G>A	ENST00000310137.4	+	2	1878	c.1739G>A	c.(1738-1740)cGc>cAc	p.R580H	RBM14-RBM4_ENST00000511114.1_Intron|RBM4_ENST00000503028.2_Intron|RBM14_ENST00000409738.4_Intron|RBM14_ENST00000393979.3_Intron|RBM14-RBM4_ENST00000412278.2_Intron|RBM14-RBM4_ENST00000500635.2_Intron|RBM4_ENST00000514361.3_Intron	NM_006328.3	NP_006319.1	Q96PK6	RBM14_HUMAN	RNA binding motif protein 14	580					DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|glucocorticoid receptor signaling pathway (GO:0042921)|histone deacetylation (GO:0016575)|intracellular estrogen receptor signaling pathway (GO:0030520)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to hormone (GO:0009725)|transcription from RNA polymerase II promoter (GO:0006366)	mediator complex (GO:0016592)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|transcription factor complex (GO:0005667)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein binding, bridging (GO:0030674)|RNA binding (GO:0003723)|RNA polymerase II transcription cofactor activity (GO:0001104)		RBM14/PACS1(2)	breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	17						GAGCGTACCCGCCTCTCCCCA	0.667																																						ENST00000310137.4																		RBM14/PACS1(2)	0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	17						c.(1738-1740)cGc>cAc		RNA binding motif protein 14							27	29	28					11																	66393086		2182	4262	6444	SO:0001583	missense	10432				DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|histone deacetylation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus	mediator complex|ribonucleoprotein complex|transcription factor complex	ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|protein binding, bridging|RNA binding|RNA polymerase II transcription cofactor activity	g.chr11:66393086G>A	AF080561	CCDS8147.1, CCDS55772.1, CCDS55773.1	11q13.2	2013-02-12			ENSG00000239306	ENSG00000239306		"RNA binding motif (RRM) containing"	14219	protein-coding gene	gene with protein product	"coactivator activator", "SYT interacting protein"	612409				9285794	Standard	NM_006328		Approved	SIP, SYTIP1, COAA, DKFZp779J0927	uc001oit.3	Q96PK6	OTTHUMG00000140380	ENST00000310137.4:c.1739G>A	11.37:g.66393086G>A	ENSP00000311747:p.Arg580His					RBM14-RBM4_ENST00000412278.2_Intron|RBM14_ENST00000409738.4_Intron|RBM14-RBM4_ENST00000500635.2_Intron|RBM4_ENST00000514361.3_Intron|RBM14_ENST00000393979.3_Intron|RBM4_ENST00000503028.2_Intron	p.R580H	NM_006328.3	NP_006319.1	Q96PK6	RBM14_HUMAN			2	1878	+			580					B0LM41|B3KMN4|D6RGD8|O75932|Q2PYN1|Q53GV1|Q68DQ9|Q96PK5	Missense_Mutation	SNP	ENST00000310137.4	37	c.1739G>A	CCDS8147.1	.	.	.	.	.	.	.	.	.	.	G	12.64	1.998001	0.35226	.	.	ENSG00000239306	ENST00000310137	D	0.91180	-2.8	5.22	4.32	0.51571	.	0.125092	0.53938	N	0.000052	D	0.83492	0.5266	N	0.24115	0.695	0.80722	D	1	B	0.16166	0.016	B	0.04013	0.001	T	0.80439	-0.1382	10	0.87932	D	0	-1.197	11.505	0.50461	0.0864:0.0:0.9136:0.0	.	580	Q96PK6	RBM14_HUMAN	H	580	ENSP00000311747:R580H	ENSP00000311747:R580H	R	+	2	0	RBM14	66149662	1.000000	0.71417	0.997000	0.53966	0.991000	0.79684	4.552000	0.60747	1.444000	0.47605	0.655000	0.94253	CGC		0.667	RBM14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277128.1	NM_006328		12	10	0	0	0	1	0	12	10					A	66393086	G	A	66393086	3	1	435	1	0	0	0	0	1	0	0	0	13115	1087	38	1	1745	1	RBM14	11	66393086	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	189	66393086	68613430	5274	26199											
RBM4B	83759	broad.mit.edu	37	chr11	66436508	66436508	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ataagagcggacccggtatcGcttatagtagtcgagtgctc	10	10	12	9	4	0	1	0	0	0	1	3	3	0	2	1	2	2	4	1	2	5	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:66436508G>A	ENST00000525754.1	-	2	1335	c.667C>T	c.(667-669)Cga>Tga	p.R223*	RBM4B_ENST00000310046.4_Nonsense_Mutation_p.R223*|RBM4B_ENST00000524637.1_3'UTR|RBM4B_ENST00000529195.2_5'Flank|RP11-658F2.8_ENST00000550837.1_RNA|RP11-658F2.8_ENST00000548810.1_RNA|RBM4B_ENST00000531969.1_Intron			Q9BQ04	RBM4B_HUMAN	RNA binding motif protein 4B	223	Interaction with TNPO3. {ECO:0000250}.				circadian regulation of gene expression (GO:0032922)|circadian rhythm (GO:0007623)|entrainment of circadian clock by photoperiod (GO:0043153)|mRNA processing (GO:0006397)|positive regulation of gene expression (GO:0010628)|regulation of translation (GO:0006417)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|large_intestine(4)|lung(1)|urinary_tract(2)	10						ACCCGGTATCGCTTATAGTAG	0.507																																						ENST00000525754.1																			0				breast(1)|endometrium(2)|large_intestine(4)|lung(1)|urinary_tract(2)	10						c.(667-669)Cga>Tga		RNA binding motif protein 4B							100	90	93					11																	66436508		2200	4295	6495	SO:0001587	stop_gained	83759				circadian regulation of gene expression|entrainment of circadian clock by photoperiod|mRNA processing|RNA splicing	nucleolus	nucleotide binding|RNA binding|zinc ion binding	g.chr11:66436508G>A	AK095158	CCDS8149.1, CCDS66144.1	11q13	2013-02-12	2006-01-25	2006-01-25				"Zinc fingers, CCHC domain containing", "RNA binding motif (RRM) containing"	28842	protein-coding gene	gene with protein product			"RNA binding motif protein 30"	RBM30		12477932	Standard	XR_247213		Approved	MGC10871, ZCCHC15, RBM4L, ZCRB3B, ZCCHC21B	uc001ojb.3	Q9BQ04		ENST00000525754.1:c.667C>T	11.37:g.66436508G>A	ENSP00000433071:p.Arg223*					RBM4B_ENST00000531969.1_Intron|RBM4B_ENST00000310046.4_Nonsense_Mutation_p.R223*|RBM4B_ENST00000524637.1_3'UTR	p.R223*			Q9BQ04	RBM4B_HUMAN			2	1335	-			223			Interaction with TNPO3 (By similarity).		B3KT83	Nonsense_Mutation	SNP	ENST00000525754.1	37	c.667C>T	CCDS8149.1	.	.	.	.	.	.	.	.	.	.	G	36	5.609072	0.96637	.	.	ENSG00000173914	ENST00000525754;ENST00000310046	.	.	.	5.4	5.4	0.78164	.	0.047523	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.05525	T	0.97	-24.4996	18.1095	0.89530	0.0:0.0:1.0:0.0	.	.	.	.	X	223	.	ENSP00000310471:R223X	R	-	1	2	RBM4B	66193084	1.000000	0.71417	1.000000	0.80357	0.906000	0.53458	2.870000	0.48451	2.822000	0.97130	0.650000	0.86243	CGA		0.507	RBM4B-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393851.1	NM_031492		15	18	0	0	0	1	0	15	18					A	66436508	G	A	66436508	4	1	435	1	0	0	0	0	0	1	0	0	13142	1095	38	1	416	1	RBM4B	11	66436508	Nonsense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	43422	66436508	68570008	5275	26200											
SPTBN2	6712	broad.mit.edu	37	chr11	66458794	66458794	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgtcatgctcgtaggcacaGtgtcggcgctgcagggcctc	6	9	14	12	3	1	0	1	0	0	0	4	0	1	0	1	3	2	5	1	3	1	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:66458794G>A	ENST00000533211.1	-	27	5857	c.5526C>T	c.(5524-5526)caC>caT	p.H1842H	SPTBN2_ENST00000529997.1_Silent_p.H1842H|SPTBN2_ENST00000309996.2_Silent_p.H1842H			O15020	SPTN2_HUMAN	spectrin, beta, non-erythrocytic 2	1842					actin filament capping (GO:0051693)|adult behavior (GO:0030534)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon guidance (GO:0007411)|cell death (GO:0008219)|cerebellar Purkinje cell layer morphogenesis (GO:0021692)|multicellular organism growth (GO:0035264)|synapse assembly (GO:0007416)|vesicle-mediated transport (GO:0016192)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular space (GO:0005615)|neuronal cell body (GO:0043025)|spectrin (GO:0008091)	actin binding (GO:0003779)|phospholipid binding (GO:0005543)|structural constituent of cytoskeleton (GO:0005200)			autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	74						CGTAGGCACAGTGTCGGCGCT	0.682																																						ENST00000533211.1																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	74						c.(5524-5526)caC>caT		spectrin, beta, non-erythrocytic 2							64	70	68					11																	66458794		2199	4289	6488	SO:0001819	synonymous_variant	6712				actin filament capping|axon guidance|cell death|vesicle-mediated transport	cytosol|spectrin	actin binding|structural constituent of cytoskeleton	g.chr11:66458794G>A	AB008567, AF026487, AF026488, AF079569	CCDS8150.1	11q13.2	2013-01-10			ENSG00000173898	ENSG00000173898		"Pleckstrin homology (PH) domain containing"	11276	protein-coding gene	gene with protein product		604985	"spinocerebellar ataxia 5"	SCA5		9826670, 16429157	Standard	NM_006946		Approved		uc001ojd.3	O15020	OTTHUMG00000167262	ENST00000533211.1:c.5526C>T	11.37:g.66458794G>A						SPTBN2_ENST00000309996.2_Silent_p.H1842H|SPTBN2_ENST00000529997.1_Silent_p.H1842H	p.H1842H			O15020	SPTN2_HUMAN			27	5857	-			1842					O14872|O14873	Silent	SNP	ENST00000533211.1	37	c.5526C>T	CCDS8150.1																																																																																				0.682	SPTBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393892.2	NM_006946		29	53	0	0	0	1	0	29	53					A	66458794	G	A	66458794	2	1	435	1	0	0	0	0	0	0	0	1	15119	1020	36	3		3	SPTBN2	11	66458794	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	22286	66458794	68547722	5276	26201											
SPTBN2	6712	broad.mit.edu	37	chr11	66461832	66461832	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acagccatctcccattccagCatctgcaaaccgccaggagg	11	6	8	16	1	2	0	0	0	2	0	4	1	3	1	5	2	4	2	5	2	1	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:66461832C>T	ENST00000533211.1	-	22	4612	c.4281G>A	c.(4279-4281)atG>atA	p.M1427I	SPTBN2_ENST00000529997.1_Missense_Mutation_p.M1427I|SPTBN2_ENST00000309996.2_Missense_Mutation_p.M1427I			O15020	SPTN2_HUMAN	spectrin, beta, non-erythrocytic 2	1427					actin filament capping (GO:0051693)|adult behavior (GO:0030534)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon guidance (GO:0007411)|cell death (GO:0008219)|cerebellar Purkinje cell layer morphogenesis (GO:0021692)|multicellular organism growth (GO:0035264)|synapse assembly (GO:0007416)|vesicle-mediated transport (GO:0016192)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular space (GO:0005615)|neuronal cell body (GO:0043025)|spectrin (GO:0008091)	actin binding (GO:0003779)|phospholipid binding (GO:0005543)|structural constituent of cytoskeleton (GO:0005200)			autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	74						CCCATTCCAGCATCTGCAAAC	0.597											OREG0021113	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000533211.1																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	74						c.(4279-4281)atG>atA		spectrin, beta, non-erythrocytic 2							53	42	46					11																	66461832		2200	4295	6495	SO:0001583	missense	6712				actin filament capping|axon guidance|cell death|vesicle-mediated transport	cytosol|spectrin	actin binding|structural constituent of cytoskeleton	g.chr11:66461832C>T	AB008567, AF026487, AF026488, AF079569	CCDS8150.1	11q13.2	2013-01-10			ENSG00000173898	ENSG00000173898		"Pleckstrin homology (PH) domain containing"	11276	protein-coding gene	gene with protein product		604985	"spinocerebellar ataxia 5"	SCA5		9826670, 16429157	Standard	NM_006946		Approved		uc001ojd.3	O15020	OTTHUMG00000167262	ENST00000533211.1:c.4281G>A	11.37:g.66461832C>T	ENSP00000432568:p.Met1427Ile		OREG0021113	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1092	SPTBN2_ENST00000309996.2_Missense_Mutation_p.M1427I|SPTBN2_ENST00000529997.1_Missense_Mutation_p.M1427I	p.M1427I			O15020	SPTN2_HUMAN			22	4612	-			1427					O14872|O14873	Missense_Mutation	SNP	ENST00000533211.1	37	c.4281G>A	CCDS8150.1	.	.	.	.	.	.	.	.	.	.	C	17.92	3.505871	0.64410	.	.	ENSG00000173898	ENST00000533211;ENST00000309996;ENST00000529997	T;T;T	0.49432	0.78;0.78;0.78	4.49	4.49	0.54785	.	0.000000	0.85682	D	0.000000	T	0.40791	0.1131	L	0.39326	1.205	0.80722	D	1	B	0.20368	0.044	B	0.17098	0.017	T	0.24225	-1.0166	10	0.33940	T	0.23	.	16.1259	0.81395	0.0:1.0:0.0:0.0	.	1427	O15020	SPTN2_HUMAN	I	1427	ENSP00000432568:M1427I;ENSP00000311489:M1427I;ENSP00000433593:M1427I	ENSP00000311489:M1427I	M	-	3	0	SPTBN2	66218408	1.000000	0.71417	1.000000	0.80357	0.727000	0.41649	7.601000	0.82783	2.328000	0.79073	0.462000	0.41574	ATG		0.597	SPTBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393892.2	NM_006946		9	17	0	0	0	1	0	9	17					T	66461832	C	T	66461832	3	4	435	1	0	0	0	0	1	0	0	0	15119	710	25	3	2959	3	SPTBN2	11	66461832	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	3038	66461832	68544684	5277	26202											
SPTBN2	6712	broad.mit.edu	37	chr11	66475239	66475239	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgtccgtctcaatggcttcGtgcttccgtactgctgcctc	4	14	9	14	3	1	0	1	0	1	0	6	0	3	0	3	1	4	4	3	1	2	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:66475239G>A	ENST00000533211.1	-	13	1732	c.1401C>T	c.(1399-1401)caC>caT	p.H467H	SPTBN2_ENST00000529997.1_Silent_p.H467H|SPTBN2_ENST00000309996.2_Silent_p.H467H			O15020	SPTN2_HUMAN	spectrin, beta, non-erythrocytic 2	467					actin filament capping (GO:0051693)|adult behavior (GO:0030534)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon guidance (GO:0007411)|cell death (GO:0008219)|cerebellar Purkinje cell layer morphogenesis (GO:0021692)|multicellular organism growth (GO:0035264)|synapse assembly (GO:0007416)|vesicle-mediated transport (GO:0016192)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular space (GO:0005615)|neuronal cell body (GO:0043025)|spectrin (GO:0008091)	actin binding (GO:0003779)|phospholipid binding (GO:0005543)|structural constituent of cytoskeleton (GO:0005200)			autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	74						CAATGGCTTCGTGCTTCCGTA	0.657																																						ENST00000533211.1																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	74						c.(1399-1401)caC>caT		spectrin, beta, non-erythrocytic 2							58	51	53					11																	66475239		2200	4295	6495	SO:0001819	synonymous_variant	6712				actin filament capping|axon guidance|cell death|vesicle-mediated transport	cytosol|spectrin	actin binding|structural constituent of cytoskeleton	g.chr11:66475239G>A	AB008567, AF026487, AF026488, AF079569	CCDS8150.1	11q13.2	2013-01-10			ENSG00000173898	ENSG00000173898		"Pleckstrin homology (PH) domain containing"	11276	protein-coding gene	gene with protein product		604985	"spinocerebellar ataxia 5"	SCA5		9826670, 16429157	Standard	NM_006946		Approved		uc001ojd.3	O15020	OTTHUMG00000167262	ENST00000533211.1:c.1401C>T	11.37:g.66475239G>A						SPTBN2_ENST00000309996.2_Silent_p.H467H|SPTBN2_ENST00000529997.1_Silent_p.H467H	p.H467H			O15020	SPTN2_HUMAN			13	1732	-			467					O14872|O14873	Silent	SNP	ENST00000533211.1	37	c.1401C>T	CCDS8150.1																																																																																				0.657	SPTBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393892.2	NM_006946		5	36	0	0	0	1	0	5	36					A	66475239	G	A	66475239	2	1	435	1	0	0	0	0	0	0	0	1	15119	1136	40	1		1	SPTBN2	11	66475239	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	13407	66475239	68531277	5278	26203											
RCE1	9986	broad.mit.edu	37	chr11	66613420	66613420	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttggagcacccacagaggCggcccctgctggcaggctat	7	6	13	15	1	0	1	0	0	0	1	0	2	0	2	4	5	2	4	4	5	1	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:66613420C>T	ENST00000309657.3	+	8	888	c.844C>T	c.(844-846)Cgg>Tgg	p.R282W	RCE1_ENST00000525356.1_Missense_Mutation_p.R159W|RCE1_ENST00000524506.1_Missense_Mutation_p.R261W|PC_ENST00000528224.1_5'Flank	NM_001032279.1|NM_005133.2	NP_001027450.1|NP_005124.1	Q9Y256	FACE2_HUMAN	Ras converting CAAX endopeptidase 1	282					CAAX-box protein processing (GO:0071586)|proteolysis (GO:0006508)	endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	cysteine-type endopeptidase activity (GO:0004197)|metalloendopeptidase activity (GO:0004222)			breast(2)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)	10						CCCACAGAGGCGGCCCCTGCT	0.612																																						ENST00000309657.3																			0				breast(2)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)	10						c.(844-846)Cgg>Tgg		Ras converting CAAX endopeptidase 1							93	91	92					11																	66613420		2200	4295	6495	SO:0001583	missense	9986				proteolysis	endoplasmic reticulum membrane|integral to plasma membrane	metalloendopeptidase activity	g.chr11:66613420C>T	AF121951	CCDS8151.1	11q13	2013-10-18	2013-10-18	2001-06-29	ENSG00000173653	ENSG00000173653			13721	protein-coding gene	gene with protein product	"farnesylated protein-converting enzyme 2", "prenyl protein-specific endoprotease 2", "RCE1 homolog, prenyl protein protease", "CAAX prenyl protease 2"	605385	"RCE1 (S. Cerevisiae) homolog, prenyl protein protease", "RCE1 homolog, prenyl protein peptidase (S. cerevisiae)", "RCE1 homolog, prenyl protein protease (S. cerevisiae)"	RCE1A, RCE1B		10085068, 10373325	Standard	NM_005133		Approved	hRCE1, FACE-2, FACE2	uc001ojk.1	Q9Y256	OTTHUMG00000167098	ENST00000309657.3:c.844C>T	11.37:g.66613420C>T	ENSP00000309163:p.Arg282Trp					RCE1_ENST00000525356.1_Missense_Mutation_p.R159W|RCE1_ENST00000524506.1_Missense_Mutation_p.R261W	p.R282W	NM_001032279.1|NM_005133.2	NP_001027450.1|NP_005124.1	Q9Y256	FACE2_HUMAN			8	888	+			282					Q52LZ9	Missense_Mutation	SNP	ENST00000309657.3	37	c.844C>T	CCDS8151.1	.	.	.	.	.	.	.	.	.	.	C	12.28	1.892027	0.33442	.	.	ENSG00000173653	ENST00000309657;ENST00000524506;ENST00000525356	.	.	.	5.24	-1.92	0.07618	.	1.073260	0.07148	N	0.848530	T	0.22898	0.0553	N	0.08118	0	0.28987	N	0.88827	B	0.02656	0.0	B	0.01281	0.0	T	0.26155	-1.0111	9	0.35671	T	0.21	-0.7222	10.6301	0.45532	0.0:0.3789:0.0:0.6211	.	282	Q9Y256	FACE2_HUMAN	W	282;261;159	.	ENSP00000309163:R282W	R	+	1	2	RCE1	66369996	0.910000	0.30920	0.992000	0.48379	0.991000	0.79684	0.033000	0.13754	-0.249000	0.09569	-0.140000	0.14226	CGG		0.612	RCE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393105.1	NM_005133		6	88	0	0	0	1	0	6	88					T	66613420	C	T	66613420	3	4	435	1	0	0	0	0	1	0	0	0	13176	759	27	1	874	1	RCE1	11	66613420	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	138181	66613420	68393096	5279	26204											
PC	5091	broad.mit.edu	37	chr11	66620277	66620277	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggctggccttgacgggaatcGgggtggttggaccgtttacc	5	10	17	9	3	0	1	0	1	0	0	1	3	0	3	3	7	1	3	3	7	2	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:66620277G>A	ENST00000393958.2	-	13	1637	c.1544C>T	c.(1543-1545)cCg>cTg	p.P515L	PC_ENST00000393955.2_Missense_Mutation_p.P515L|PC_ENST00000529047.1_5'Flank|PC_ENST00000393960.1_Missense_Mutation_p.P515L|PC_ENST00000528224.1_5'Flank	NM_000920.3	NP_000911.2	P11498	PYC_HUMAN	pyruvate carboxylase	515					biotin metabolic process (GO:0006768)|carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|lipid metabolic process (GO:0006629)|oxaloacetate metabolic process (GO:0006107)|pyruvate metabolic process (GO:0006090)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin carboxylase activity (GO:0004075)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|pyruvate carboxylase activity (GO:0004736)			cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Melanoma(852;0.0525)		Lung(977;0.153)|LUSC - Lung squamous cell carcinoma(976;0.227)	Biotin(DB00121)|Pyruvic acid(DB00119)	GACGGGAATCGGGGTGGTTGG	0.627																																						ENST00000393960.1																			0				cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(1543-1545)cCg>cTg		pyruvate carboxylase	Biotin(DB00121)|Pyruvic acid(DB00119)						94	87	89					11																	66620277		2200	4295	6495	SO:0001583	missense	5091				gluconeogenesis|lipid biosynthetic process	mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|metal ion binding|pyruvate carboxylase activity	g.chr11:66620277G>A	U04641	CCDS8152.1	11q13.4-q13.5	2012-07-11			ENSG00000173599	ENSG00000173599	6.4.1.1		8636	protein-coding gene	gene with protein product		608786				6548474	Standard	NM_022172		Approved	PCB	uc001ojn.1	P11498	OTTHUMG00000167099	ENST00000393958.2:c.1544C>T	11.37:g.66620277G>A	ENSP00000377530:p.Pro515Leu					PC_ENST00000393955.2_Missense_Mutation_p.P515L|PC_ENST00000393958.2_Missense_Mutation_p.P515L	p.P515L	NM_001040716.1	NP_001035806.1	P11498	PYC_HUMAN		Lung(977;0.153)|LUSC - Lung squamous cell carcinoma(976;0.227)	14	1825	-		Melanoma(852;0.0525)	515					B4DN00|Q16705	Missense_Mutation	SNP	ENST00000393958.2	37	c.1544C>T	CCDS8152.1	.	.	.	.	.	.	.	.	.	.	G	17.03	3.285291	0.59867	.	.	ENSG00000173599	ENST00000393955;ENST00000393958;ENST00000393960	D;D;D	0.95690	-3.78;-3.78;-3.78	5.53	4.62	0.57501	.	0.000000	0.85682	D	0.000000	D	0.89822	0.6826	L	0.33245	0.995	0.80722	D	1	P	0.34837	0.472	B	0.25140	0.058	D	0.87995	0.2752	10	0.31617	T	0.26	-31.7116	11.4026	0.49878	0.0863:0.0:0.9137:0.0	.	515	P11498	PYC_HUMAN	L	515	ENSP00000377527:P515L;ENSP00000377530:P515L;ENSP00000377532:P515L	ENSP00000377527:P515L	P	-	2	0	PC	66376853	1.000000	0.71417	0.989000	0.46669	0.818000	0.46254	4.716000	0.61916	2.605000	0.88082	0.655000	0.94253	CCG		0.627	PC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393115.1	NM_001040716		7	30	0	0	0	1	0	7	30					A	66620277	G	A	66620277	3	1	435	1	0	0	0	0	1	0	0	0	11497	1116	39	2	2032	2	PC	11	66620277	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	6857	66620277	68386239	5280	26205											
RHOD	29984	broad.mit.edu	37	chr11	66834253	66834253	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcccctgttctaccctgacGccagcgtcctgctgctttgc	3	11	10	17	2	1	1	0	1	1	0	2	1	2	1	5	1	5	3	5	1	1	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:66834253G>A	ENST00000308831.2	+	3	350	c.265G>A	c.(265-267)Gcc>Acc	p.A89T	RHOD_ENST00000533360.1_Missense_Mutation_p.A89T|RHOD_ENST00000532559.1_Intron	NM_014578.3	NP_055393	O00212	RHOD_HUMAN	ras homolog family member D	89					actin filament bundle assembly (GO:0051017)|focal adhesion assembly (GO:0048041)|GTP catabolic process (GO:0006184)|lamellipodium assembly (GO:0030032)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell migration (GO:0030335)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			lung(3)	3						CTACCCTGACGCCAGCGTCCT	0.612																																						ENST00000308831.2																			0				lung(3)	3						c.(265-267)Gcc>Acc		ras homolog family member D							160	144	150					11																	66834253		2200	4295	6495	SO:0001583	missense	29984				regulation of small GTPase mediated signal transduction|Rho protein signal transduction	cytosol|plasma membrane	GTP binding|GTPase activity	g.chr11:66834253G>A	D85815	CCDS8155.1, CCDS73330.1	11q14.3	2012-02-27	2012-02-27	2004-03-24	ENSG00000173156	ENSG00000173156			670	protein-coding gene	gene with protein product	"Rho-related protein HP1", "Rho-related GTP-binding protein RhoD"	605781	"ras homolog gene family, member D"	ARHD		9116026	Standard	NM_014578		Approved	RhoHP1, RhoD, Rho	uc001ojv.3	O00212	OTTHUMG00000167102	ENST00000308831.2:c.265G>A	11.37:g.66834253G>A	ENSP00000308576:p.Ala89Thr					RHOD_ENST00000532559.1_Intron|RHOD_ENST00000533360.1_Missense_Mutation_p.A89T	p.A89T	NM_014578.3	NP_055393.1	O00212	RHOD_HUMAN			3	350	+			89						Missense_Mutation	SNP	ENST00000308831.2	37	c.265G>A	CCDS8155.1	.	.	.	.	.	.	.	.	.	.	G	0.679	-0.798853	0.02841	.	.	ENSG00000173156	ENST00000308831;ENST00000533360	T;T	0.72051	-0.62;-0.62	4.9	1.95	0.26073	Small GTP-binding protein domain (1);	0.140485	0.32836	N	0.005581	T	0.45115	0.1326	N	0.20328	0.56	0.23366	N	0.997828	B	0.26775	0.159	B	0.24006	0.05	T	0.34329	-0.9833	10	0.02654	T	1	-23.3618	7.3209	0.26528	0.283:0.0:0.717:0.0	.	89	O00212	RHOD_HUMAN	T	89	ENSP00000308576:A89T;ENSP00000431167:A89T	ENSP00000308576:A89T	A	+	1	0	RHOD	66590829	0.970000	0.33590	0.191000	0.23289	0.002000	0.02628	1.766000	0.38491	0.675000	0.31264	-0.793000	0.03317	GCC		0.612	RHOD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393136.1	NM_014578		38	61	0	0	0	1	0	38	61					A	66834253	G	A	66834253	3	1	435	1	0	0	0	0	1	0	0	0	13337	1087	38	1	275	1	RHOD	11	66834253	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	213976	66834253	68172263	5281	26206											
SSH3	54961	broad.mit.edu	37	chr11	67072293	67072293	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcctgggactgcaggatggaGgggacaatgatgatgcagca	11	7	16	7	0	0	2	0	2	0	0	1	6	1	6	1	5	3	3	1	5	1	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:67072293G>A	ENST00000308127.4	+	3	332	c.154G>A	c.(154-156)Ggg>Agg	p.G52R	SSH3_ENST00000308298.7_Missense_Mutation_p.G52R|SSH3_ENST00000376757.5_Missense_Mutation_p.G52R|SSH3_ENST00000532181.1_3'UTR	NM_017857.3	NP_060327.3	Q8TE77	SSH3_HUMAN	slingshot protein phosphatase 3	52					protein dephosphorylation (GO:0006470)|regulation of actin polymerization or depolymerization (GO:0008064)|regulation of axonogenesis (GO:0050770)|regulation of lamellipodium assembly (GO:0010591)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	actin binding (GO:0003779)|DNA binding (GO:0003677)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)			GCAGGATGGAGGGGACAATGA	0.617																																						ENST00000308127.4																			0				NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(154-156)Ggg>Agg		slingshot protein phosphatase 3							50	49	49					11																	67072293		2199	4295	6494	SO:0001583	missense	54961				regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly	cytoplasm|cytoskeleton|nucleus	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr11:67072293G>A	AF085851	CCDS8157.1	11q13	2013-03-05	2013-03-05		ENSG00000172830	ENSG00000172830		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Slingshots"	30581	protein-coding gene	gene with protein product		606780	"slingshot homolog 3 (Drosophila)"			11832213	Standard	NM_017857		Approved	FLJ20515, FLJ10928	uc001okj.3	Q8TE77	OTTHUMG00000167105	ENST00000308127.4:c.154G>A	11.37:g.67072293G>A	ENSP00000312081:p.Gly52Arg					SSH3_ENST00000376757.5_Missense_Mutation_p.G52R|SSH3_ENST00000308298.7_Missense_Mutation_p.G52R|SSH3_ENST00000532181.1_3'UTR	p.G52R	NM_017857.3	NP_060327.3	Q8TE77	SSH3_HUMAN	BRCA - Breast invasive adenocarcinoma(15;2.26e-06)		3	332	+			52					Q6PK42|Q76I75|Q8N9L8|Q8WYL0|Q9NV45|Q9NWZ7	Missense_Mutation	SNP	ENST00000308127.4	37	c.154G>A	CCDS8157.1	.	.	.	.	.	.	.	.	.	.	G	17.47	3.397241	0.62177	.	.	ENSG00000172830	ENST00000308127;ENST00000308298;ENST00000376757	T;T;T	0.32515	3.74;1.45;3.83	5.18	3.31	0.37934	.	1.217680	0.06115	N	0.667959	T	0.23094	0.0558	N	0.24115	0.695	0.32237	N	0.573222	P	0.34800	0.469	B	0.33042	0.157	T	0.24512	-1.0158	10	0.52906	T	0.07	-13.5242	8.0918	0.30805	0.1733:0.0:0.8267:0.0	.	52	Q8TE77	SSH3_HUMAN	R	52	ENSP00000312081:G52R;ENSP00000310055:G52R;ENSP00000365948:G52R	ENSP00000312081:G52R	G	+	1	0	SSH3	66828869	1.000000	0.71417	0.081000	0.20488	0.458000	0.32498	4.009000	0.57110	0.593000	0.29745	0.561000	0.74099	GGG		0.617	SSH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393167.1	NM_018276		3	14	0	0	0	1	0	3	14					A	67072293	G	A	67072293	3	1	435	1	0	0	0	0	1	0	0	0	15185	1000	35	3	164	3	SSH3	11	67072293	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	238040	67072293	67934223	5282	26207											
SSH3	54961	broad.mit.edu	37	chr11	67072437	67072437	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agcagaggcagcacctgcacCtcatggtacagctgctgagg	10	6	13	12	0	1	2	1	1	0	1	1	2	1	2	2	3	6	7	2	3	1	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:67072437C>A	ENST00000308127.4	+	3	476	c.298C>A	c.(298-300)Ctc>Atc	p.L100I	SSH3_ENST00000308298.7_Missense_Mutation_p.L100I|SSH3_ENST00000376757.5_Missense_Mutation_p.L100I|SSH3_ENST00000532181.1_3'UTR	NM_017857.3	NP_060327.3	Q8TE77	SSH3_HUMAN	slingshot protein phosphatase 3	100					protein dephosphorylation (GO:0006470)|regulation of actin polymerization or depolymerization (GO:0008064)|regulation of axonogenesis (GO:0050770)|regulation of lamellipodium assembly (GO:0010591)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	actin binding (GO:0003779)|DNA binding (GO:0003677)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)			GCACCTGCACCTCATGGTACA	0.652																																						ENST00000308127.4																			0				NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(298-300)Ctc>Atc		slingshot protein phosphatase 3							38	38	38					11																	67072437		2198	4295	6493	SO:0001583	missense	54961				regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly	cytoplasm|cytoskeleton|nucleus	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr11:67072437C>A	AF085851	CCDS8157.1	11q13	2013-03-05	2013-03-05		ENSG00000172830	ENSG00000172830		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Slingshots"	30581	protein-coding gene	gene with protein product		606780	"slingshot homolog 3 (Drosophila)"			11832213	Standard	NM_017857		Approved	FLJ20515, FLJ10928	uc001okj.3	Q8TE77	OTTHUMG00000167105	ENST00000308127.4:c.298C>A	11.37:g.67072437C>A	ENSP00000312081:p.Leu100Ile					SSH3_ENST00000376757.5_Missense_Mutation_p.L100I|SSH3_ENST00000308298.7_Missense_Mutation_p.L100I|SSH3_ENST00000532181.1_3'UTR	p.L100I	NM_017857.3	NP_060327.3	Q8TE77	SSH3_HUMAN	BRCA - Breast invasive adenocarcinoma(15;2.26e-06)		3	476	+			100					Q6PK42|Q76I75|Q8N9L8|Q8WYL0|Q9NV45|Q9NWZ7	Missense_Mutation	SNP	ENST00000308127.4	37	c.298C>A	CCDS8157.1	.	.	.	.	.	.	.	.	.	.	C	13.09	2.134446	0.37630	.	.	ENSG00000172830	ENST00000308127;ENST00000308298;ENST00000376757	T;T;T	0.31769	3.79;1.48;3.83	5.06	5.06	0.68205	.	0.789074	0.11176	N	0.591479	T	0.26810	0.0656	L	0.38531	1.155	0.26926	N	0.966567	B	0.22909	0.077	B	0.24394	0.053	T	0.12889	-1.0530	10	0.18276	T	0.48	-17.3169	13.9288	0.63981	0.0:1.0:0.0:0.0	.	100	Q8TE77	SSH3_HUMAN	I	100	ENSP00000312081:L100I;ENSP00000310055:L100I;ENSP00000365948:L100I	ENSP00000312081:L100I	L	+	1	0	SSH3	66829013	1.000000	0.71417	0.997000	0.53966	0.552000	0.35366	1.750000	0.38329	2.354000	0.79902	0.561000	0.74099	CTC		0.652	SSH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393167.1	NM_018276		5	18	1	0	8.12818e-05	1	8.34155e-05	5	18					A	67072437	C	A	67072437	3	1	435	1	0	0	0	0	1	0	0	0	15185	681	24	5	308	5	SSH3	11	67072437	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	144	67072437	67934079	5283	26208											
RAD9A	5883	broad.mit.edu	37	chr11	67163738	67163738	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccctcccctgcccaggcccGccatcttcaccatcaaggac	7	6	6	22	1	3	0	2	0	1	0	4	1	4	1	8	2	1	0	8	2	1	1	rs566306211		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:67163738G>A	ENST00000307980.2	+	9	832	c.739G>A	c.(739-741)Gcc>Acc	p.A247T	RNU6-1238P_ENST00000517215.1_RNA|PPP1CA_ENST00000532446.1_5'Flank|RAD9A_ENST00000535644.1_3'UTR	NM_001243224.1|NM_004584.2	NP_001230153.1|NP_004575.1	Q99638	RAD9A_HUMAN	RAD9 homolog A (S. pombe)	247					cellular response to DNA damage stimulus (GO:0006974)|cellular response to ionizing radiation (GO:0071479)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication checkpoint (GO:0000076)|intra-S DNA damage checkpoint (GO:0031573)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|positive regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902231)	checkpoint clamp complex (GO:0030896)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	3'-5' exonuclease activity (GO:0008408)|enzyme binding (GO:0019899)|exodeoxyribonuclease III activity (GO:0008853)|histone deacetylase binding (GO:0042826)|protein kinase binding (GO:0019901)|SH3 domain binding (GO:0017124)			lung(7)|upper_aerodigestive_tract(1)	8			BRCA - Breast invasive adenocarcinoma(15;8.53e-07)			GCCCAGGCCCGCCATCTTCAC	0.632								Other conserved DNA damage response genes					g|||	1	0.000199681	0	0	5008	,	,		16040	0		0	False		,,,				2504	0.001					ENST00000307980.2																			0				lung(7)|upper_aerodigestive_tract(1)	8						c.(739-741)Gcc>Acc	Other conserved DNA damage response genes	RAD9 homolog A (S. pombe)							134	137	136					11																	67163738		2200	4295	6495	SO:0001583	missense	5883				DNA damage checkpoint|DNA repair|DNA replication|DNA replication checkpoint	nucleoplasm	3'-5' exonuclease activity|exodeoxyribonuclease III activity|histone deacetylase binding|protein kinase binding|SH3 domain binding	g.chr11:67163738G>A	U53174	CCDS8159.1	11q13.1-q13.2	2008-02-05	2003-07-21	2003-07-23	ENSG00000172613	ENSG00000172613			9827	protein-coding gene	gene with protein product		603761	"RAD9 (S. pombe) homolog"	RAD9		8943031	Standard	NM_004584		Approved		uc001okr.3	Q99638	OTTHUMG00000167670	ENST00000307980.2:c.739G>A	11.37:g.67163738G>A	ENSP00000311360:p.Ala247Thr					RAD9A_ENST00000535644.1_3'UTR	p.A247T	NM_001243224.1|NM_004584.2	NP_001230153.1|NP_004575.1	Q99638	RAD9A_HUMAN	BRCA - Breast invasive adenocarcinoma(15;8.53e-07)		9	832	+			247					B2RCZ8|Q6FI29|Q96C41	Missense_Mutation	SNP	ENST00000307980.2	37	c.739G>A	CCDS8159.1	.	.	.	.	.	.	.	.	.	.	G	14.93	2.682004	0.47991	.	.	ENSG00000172613	ENST00000307980;ENST00000544620	T;T	0.24151	1.87;1.87	4.64	4.64	0.57946	.	0.133831	0.50627	D	0.000110	T	0.35480	0.0933	L	0.50333	1.59	0.38909	D	0.957498	D;D	0.61697	0.963;0.99	B;P	0.51974	0.269;0.686	T	0.30995	-0.9959	10	0.66056	D	0.02	-13.4715	14.4393	0.67303	0.0:0.0:1.0:0.0	.	233;247	F5H4F1;Q99638	.;RAD9A_HUMAN	T	247;233	ENSP00000311360:A247T;ENSP00000444979:A233T	ENSP00000311360:A247T	A	+	1	0	RAD9A	66920314	1.000000	0.71417	1.000000	0.80357	0.435000	0.31806	7.171000	0.77595	2.139000	0.66308	0.561000	0.74099	GCC		0.632	RAD9A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395481.2	NM_004584		35	53	0	0	0	1	0	35	53					A	67163738	G	A	67163738	3	1	435	1	0	0	0	0	1	0	0	0	12995	1087	38	1	773	1	RAD9A	11	67163738	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	91301	67163738	67842778	5284	26209											
RPS6KB2	6199	broad.mit.edu	37	chr11	67201898	67201898	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acccgcttcacacggcagacGccggtggacagtcctgatga	9	6	12	14	4	1	3	1	2	0	1	2	4	2	4	3	3	0	2	3	3	0	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:67201898G>A	ENST00000312629.5	+	13	1143	c.1098G>A	c.(1096-1098)acG>acA	p.T366T	AP003419.16_ENST00000535922.1_RNA	NM_003952.2	NP_003943.2	Q9UBS0	KS6B2_HUMAN	ribosomal protein S6 kinase, 70kDa, polypeptide 2	366	AGC-kinase C-terminal.				epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of translational initiation (GO:0045948)|protein kinase B signaling (GO:0043491)|signal transduction (GO:0007165)|translation (GO:0006412)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|peptide binding (GO:0042277)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|ribosomal protein S6 kinase activity (GO:0004711)			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|prostate(3)|salivary_gland(1)|stomach(2)	25			BRCA - Breast invasive adenocarcinoma(15;3.26e-06)			CACGGCAGACGCCGGTGGACA	0.647																																						ENST00000312629.5																			0				breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|prostate(3)|salivary_gland(1)|stomach(2)	25						c.(1096-1098)acG>acA		ribosomal protein S6 kinase, 70kDa, polypeptide 2							34	39	37					11																	67201898		2073	4200	6273	SO:0001819	synonymous_variant	6199				nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of translational initiation|translation	nucleoplasm	ATP binding|protein serine/threonine kinase activity	g.chr11:67201898G>A	AB019245	CCDS41677.1	11q13.1	2011-04-05	2002-08-29		ENSG00000175634	ENSG00000175634			10437	protein-coding gene	gene with protein product		608939	"ribosomal protein S6 kinase, 70kD, polypeptide 2"			9878560, 9804755	Standard	XM_005274164		Approved	p70S6Kb, P70-BETA, STK14B, KLS	uc001old.3	Q9UBS0	OTTHUMG00000167673	ENST00000312629.5:c.1098G>A	11.37:g.67201898G>A						AP003419.16_ENST00000535922.1_RNA	p.T366T	NM_003952.2	NP_003943.2	Q9UBS0	KS6B2_HUMAN	BRCA - Breast invasive adenocarcinoma(15;3.26e-06)		13	1143	+			366			AGC-kinase C-terminal.		B2RMZ9|B4DML8|O94809|Q9UEC1	Silent	SNP	ENST00000312629.5	37	c.1098G>A	CCDS41677.1																																																																																				0.647	RPS6KB2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395508.1	NM_003952		9	15	0	0	0	1	0	9	15					A	67201898	G	A	67201898	2	1	435	1	0	0	0	0	0	0	0	1	13657	1074	38	1		1	RPS6KB2	11	67201898	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	38160	67201898	67804618	5285	26210											
PTPRCAP	5790	broad.mit.edu	37	chr11	67203470	67203470	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcctgcaggccaccatccgCgacgtggtcatagtctgtgt	7	9	12	13	3	2	0	1	0	1	0	3	1	3	0	4	2	2	1	4	2	1	1	rs138577657	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:67203470C>T	ENST00000326294.3	-	2	802	c.355G>A	c.(355-357)Gcg>Acg	p.A119T	AP003419.16_ENST00000535922.1_RNA|CORO1B_ENST00000539724.1_5'Flank	NM_005608.2	NP_005599.1	Q14761	PTCA_HUMAN	protein tyrosine phosphatase, receptor type, C-associated protein	119					defense response (GO:0006952)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.A119T(1)		skin(1)|upper_aerodigestive_tract(1)	2			BRCA - Breast invasive adenocarcinoma(15;3.26e-06)			CCACCATCCGCGACGTGGTCA	0.657													C|||	8	0.00159744	0.0061	0	5008	,	,		18574	0		0	False		,,,				2504	0					ENST00000326294.3																			1	Substitution - Missense(1)	p.A119T(1)	skin(1)	skin(1)|upper_aerodigestive_tract(1)	2						c.(355-357)Gcg>Acg		protein tyrosine phosphatase, receptor type, C-associated protein		C	THR/ALA	13,4387	20.2+/-43.8	0,13,2187	76	60	65		355	-3.7	0	11	dbSNP_134	65	0,8590		0,0,4295	yes	missense	PTPRCAP	NM_005608.2	58	0,13,6482	TT,TC,CC		0.0,0.2955,0.1001	benign	119/207	67203470	13,12977	2200	4295	6495	SO:0001583	missense	5790				defense response	integral to membrane|plasma membrane		g.chr11:67203470C>T		CCDS8163.1	11q13.2	2011-06-09			ENSG00000213402	ENSG00000213402			9667	protein-coding gene	gene with protein product		601577					Standard	NM_005608		Approved	LPAP, CD45-AP	uc001oli.1	Q14761	OTTHUMG00000150325	ENST00000326294.3:c.355G>A	11.37:g.67203470C>T	ENSP00000325589:p.Ala119Thr						p.A119T	NM_005608.2	NP_005599.1	Q14761	PTCA_HUMAN	BRCA - Breast invasive adenocarcinoma(15;3.26e-06)		2	802	-			119					B2R512|O00643|Q6I9S6	Missense_Mutation	SNP	ENST00000326294.3	37	c.355G>A	CCDS8163.1	15	0.006868131868131868	12	0.024390243902439025	2	0.0055248618784530384	0	0.0	1	0.0013192612137203166	C	1.632	-0.518762	0.04171	0.002955	0.0	ENSG00000213402	ENST00000326294	T	0.42900	0.96	1.86	-3.72	0.04411	.	2.400400	0.02861	N	0.130297	T	0.07279	0.0184	N	0.08118	0	0.09310	N	1	P	0.47677	0.899	B	0.34824	0.19	T	0.10019	-1.0648	10	0.12766	T	0.61	-2.7357	2.3275	0.04226	0.261:0.3311:0.0:0.4079	.	119	Q14761	PTCA_HUMAN	T	119	ENSP00000325589:A119T	ENSP00000325589:A119T	A	-	1	0	PTPRCAP	66960046	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-2.513000	0.00957	-0.806000	0.04398	-2.897000	0.00093	GCG		0.657	PTPRCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317563.1	NM_005608		9	17	0	0	0	1	0	9	17					T	67203470	C	T	67203470	3	4	435	1	0	0	0	0	1	0	0	0	12798	768	27	1	269	1	PTPRCAP	11	67203470	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	1572	67203470	67803046	5286	26211											
CORO1B	57175	broad.mit.edu	37	chr11	67206326	67206326	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cccgcagtgagatgaggatcGggtcggcatcccgcccgctc	6	6	14	15	5	0	2	0	2	0	1	4	4	1	3	3	3	0	3	3	3	0	0	rs149833628		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:67206326G>A	ENST00000341356.5	-	10	1270	c.1160C>T	c.(1159-1161)cCg>cTg	p.P387L	PTPRCAP_ENST00000326294.3_5'Flank|CORO1B_ENST00000393893.1_Missense_Mutation_p.P387L|CORO1B_ENST00000539724.1_5'UTR	NM_020441.2	NP_065174.1	Q9BR76	COR1B_HUMAN	coronin, actin binding protein, 1B	387					actin cytoskeleton organization (GO:0030036)|actin filament branching (GO:0090135)|actin filament bundle assembly (GO:0051017)|cell migration (GO:0016477)|endothelial cell chemotaxis (GO:0035767)|negative regulation of Arp2/3 complex-mediated actin nucleation (GO:0034316)|positive regulation of lamellipodium morphogenesis (GO:2000394)|protein localization to cell leading edge (GO:1902463)|ruffle organization (GO:0031529)|wound healing (GO:0042060)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|stress fiber (GO:0001725)	actin filament binding (GO:0051015)|Arp2/3 complex binding (GO:0071933)|identical protein binding (GO:0042802)			cervix(1)|endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	13			BRCA - Breast invasive adenocarcinoma(15;3.26e-06)			GATGAGGATCGGGTCGGCATC	0.682																																						ENST00000393893.1																			0				cervix(1)|endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	13						c.(1159-1161)cCg>cTg		coronin, actin binding protein, 1B		G	LEU/PRO,LEU/PRO	1,4395		0,1,2197	14	15	15		1160,1160	4.6	1	11	dbSNP_134	15	0,8580		0,0,4290	no	missense,missense	CORO1B	NM_001018070.2,NM_020441.2	98,98	0,1,6487	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging	387/490,387/490	67206326	1,12975	2198	4290	6488	SO:0001583	missense	57175				actin cytoskeleton organization	actin cytoskeleton|cytoplasm	actin filament binding	g.chr11:67206326G>A	AK000860	CCDS8164.1	11q13.1	2013-01-10	2001-11-28		ENSG00000172725	ENSG00000172725		"Coronins", "WD repeat domain containing"	2253	protein-coding gene	gene with protein product		609849	"coronin, actin-binding protein, 1B"			9778037	Standard	NM_001018070		Approved	coronin-2	uc001olk.1	Q9BR76	OTTHUMG00000167775	ENST00000341356.5:c.1160C>T	11.37:g.67206326G>A	ENSP00000340211:p.Pro387Leu					CORO1B_ENST00000539724.1_5'UTR|CORO1B_ENST00000341356.5_Missense_Mutation_p.P387L	p.P387L	NM_001018070.2	NP_001018080.1	Q9BR76	COR1B_HUMAN	BRCA - Breast invasive adenocarcinoma(15;3.26e-06)		11	1263	-			387					B2RD45	Missense_Mutation	SNP	ENST00000341356.5	37	c.1160C>T	CCDS8164.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.155218	0.78114	2.27E-4	0.0	ENSG00000172725	ENST00000393893;ENST00000341356	T;T	0.33438	1.41;1.41	4.58	4.58	0.56647	Domain of unknown function DUF1900 (1);	0.158715	0.30320	N	0.009896	T	0.65059	0.2655	M	0.93062	3.375	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.75096	-0.3438	10	0.66056	D	0.02	-20.4462	16.3418	0.83084	0.0:0.0:1.0:0.0	.	387	Q9BR76	COR1B_HUMAN	L	387	ENSP00000377471:P387L;ENSP00000340211:P387L	ENSP00000340211:P387L	P	-	2	0	CORO1B	66962902	1.000000	0.71417	0.953000	0.39169	0.234000	0.25298	9.590000	0.98238	2.372000	0.80975	0.555000	0.69702	CCG		0.682	CORO1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396220.1	NM_020441		4	12	0	0	0	1	0	4	12					A	67206326	G	A	67206326	3	1	435	1	0	0	0	0	1	0	0	0	3754	1116	39	2	317	2	CORO1B	11	67206326	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	2856	67206326	67800190	5287	26212											
CABP4	57010	broad.mit.edu	37	chr11	67223812	67223812	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gtttgacactgaccgtgacgGctacatcagccaccgggagc	9	7	12	13	3	1	3	1	3	0	0	1	4	1	4	3	2	3	2	3	2	1	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:67223812G>A	ENST00000325656.5	+	3	517	c.440G>A	c.(439-441)gGc>gAc	p.G147D	CABP4_ENST00000438189.2_Missense_Mutation_p.G42D	NM_145200.3	NP_660201.1	P57796	CABP4_HUMAN	calcium binding protein 4	147	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.				photoreceptor cell morphogenesis (GO:0008594)|phototransduction (GO:0007602)|retinal bipolar neuron differentiation (GO:0060040)|retinal cone cell development (GO:0046549)|signal transduction (GO:0007165)|visual perception (GO:0007601)	cytosol (GO:0005829)|extracellular region (GO:0005576)|synapse (GO:0045202)|terminal bouton (GO:0043195)	calcium ion binding (GO:0005509)			central_nervous_system(2)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(2)	11			BRCA - Breast invasive adenocarcinoma(15;8.18e-06)			GACCGTGACGGCTACATCAGC	0.642																																						ENST00000438189.2																			0				central_nervous_system(2)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(2)	11						c.(124-126)gGc>gAc		calcium binding protein 4							79	72	74					11																	67223812		2200	4295	6495	SO:0001583	missense	57010				visual perception	cytoplasm|extracellular region|terminal button	calcium ion binding	g.chr11:67223812G>A	AC005849	CCDS8166.1, CCDS73333.1	11q13.2	2013-09-20			ENSG00000175544	ENSG00000175544		"EF-hand domain containing"	1386	protein-coding gene	gene with protein product		608965				10625670, 16960802	Standard	NM_145200		Approved	CSNB2B	uc001olo.3	P57796	OTTHUMG00000168033	ENST00000325656.5:c.440G>A	11.37:g.67223812G>A	ENSP00000324960:p.Gly147Asp					CABP4_ENST00000325656.5_Missense_Mutation_p.G147D	p.G42D			P57796	CABP4_HUMAN	BRCA - Breast invasive adenocarcinoma(15;8.18e-06)		4	469	+			147					Q8N4Z2|Q8WWY5	Missense_Mutation	SNP	ENST00000325656.5	37	c.125G>A	CCDS8166.1	.	.	.	.	.	.	.	.	.	.	G	19.39	3.819336	0.71028	.	.	ENSG00000175544	ENST00000438189;ENST00000325656	D;D	0.90261	-2.64;-2.64	4.07	4.07	0.47477	EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	D	0.96361	0.8813	M	0.93854	3.465	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.97442	1.0022	10	0.87932	D	0	-26.6411	15.5351	0.75996	0.0:0.0:1.0:0.0	.	147;42	P57796;P57796-2	CABP4_HUMAN;.	D	42;147	ENSP00000401555:G42D;ENSP00000324960:G147D	ENSP00000324960:G147D	G	+	2	0	CABP4	66980388	1.000000	0.71417	0.991000	0.47740	0.326000	0.28443	7.560000	0.82277	2.273000	0.75805	0.561000	0.74099	GGC		0.642	CABP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397624.2			21	24	0	0	0	1	0	21	24					A	67223812	G	A	67223812	3	1	435	1	0	0	0	0	1	0	0	0	2533	1203	42	3	450	3	CABP4	11	67223812	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	17486	67223812	67782704	5288	26213											
TMEM134	80194	broad.mit.edu	37	chr11	67235040	67235040	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	aaggaccactgggagctgcgGatggaagttcggctggaatc	10	7	16	8	2	0	0	0	0	0	0	2	5	0	5	1	6	2	3	1	6	3	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:67235040G>A	ENST00000308022.2	-	3	302	c.261C>T	c.(259-261)atC>atT	p.I87I	TMEM134_ENST00000393877.3_Silent_p.I87I|TMEM134_ENST00000541059.1_5'Flank|TMEM134_ENST00000452789.2_Intron	NM_001078651.1|NM_025124.2	NP_001072119.1|NP_079400.1	Q9H6X4	TM134_HUMAN	transmembrane protein 134	87						integral component of membrane (GO:0016021)				endometrium(1)|lung(1)	2						GGGAGCTGCGGATGGAAGTTC	0.647																																						ENST00000393877.3																			0				endometrium(1)|lung(1)	2						c.(259-261)atC>atT		transmembrane protein 134							56	52	53					11																	67235040		2200	4295	6495	SO:0001819	synonymous_variant	80194					integral to membrane		g.chr11:67235040G>A	AK025402	CCDS8167.1, CCDS41678.1	11q13.2	2006-03-09			ENSG00000172663	ENSG00000172663			26142	protein-coding gene	gene with protein product							Standard	NM_025124		Approved	FLJ21749	uc001olq.2	Q9H6X4	OTTHUMG00000168034	ENST00000308022.2:c.261C>T	11.37:g.67235040G>A						TMEM134_ENST00000308022.2_Silent_p.I87I|TMEM134_ENST00000452789.2_Intron	p.I87I	NM_001078650.1	NP_001072118.1	Q9H6X4	TM134_HUMAN			3	318	-			87					Q08AK4|Q6PJN3	Silent	SNP	ENST00000308022.2	37	c.261C>T	CCDS8167.1	.	.	.	.	.	.	.	.	.	.	G	10.59	1.391804	0.25118	.	.	ENSG00000172663	ENST00000544903	.	.	.	4.47	3.51	0.40186	.	.	.	.	.	T	0.48223	0.1488	.	.	.	0.25550	N	0.987097	D	0.58620	0.983	P	0.50708	0.648	T	0.37842	-0.9688	7	0.87932	D	0	.	10.0888	0.42434	0.0:0.2055:0.7945:0.0	.	91	G3V1M5	.	F	91	.	ENSP00000441975:S91F	S	-	2	0	TMEM134	66991616	1.000000	0.71417	0.889000	0.34880	0.347000	0.29111	0.787000	0.26858	0.823000	0.34589	0.289000	0.19496	TCC		0.647	TMEM134-020	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398994.1	NM_025124		14	31	0	0	0	1	0	14	31					A	67235040	G	A	67235040	2	1	435	1	0	0	0	0	0	0	0	1	16047	1164	41	3		3	TMEM134	11	67235040	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	11228	67235040	67771476	5289	26214											
PITPNM1	9600	broad.mit.edu	37	chr11	67260513	67260513	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tctttgggagacccataaccGgccacgatgttcagttctac	9	11	9	12	2	3	1	1	0	2	1	3	3	3	1	3	2	2	2	3	2	2	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:67260513G>A	ENST00000534749.1	-	22	3551	c.3363C>T	c.(3361-3363)gcC>gcT	p.A1121A	PITPNM1_ENST00000436757.2_Silent_p.A1120A|PITPNM1_ENST00000526450.1_5'Flank|PITPNM1_ENST00000356404.3_Silent_p.A1121A			O00562	PITM1_HUMAN	phosphatidylinositol transfer protein, membrane-associated 1	1121					brain development (GO:0007420)|lipid metabolic process (GO:0006629)|phospholipid transport (GO:0015914)|phototransduction (GO:0007602)|protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|lipid particle (GO:0005811)|membrane (GO:0016020)	metal ion binding (GO:0046872)|phosphatidylinositol transporter activity (GO:0008526)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(3)	18						ACCCATAACCGGCCACGATGT	0.662																																					GBM(28;144 709 4607 5525)	ENST00000356404.3																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(3)	18						c.(3361-3363)gcC>gcT		phosphatidylinositol transfer protein, membrane-associated 1							106	114	112					11																	67260513		2200	4295	6495	SO:0001819	synonymous_variant	9600				brain development|lipid metabolic process|phototransduction|protein transport	cleavage furrow|endoplasmic reticulum membrane|Golgi cisterna membrane|lipid particle|membrane fraction|midbody	metal ion binding|phosphatidylinositol transporter activity	g.chr11:67260513G>A	X98654	CCDS31620.1, CCDS44659.1	11q13	2008-07-21		2003-05-16	ENSG00000110697	ENSG00000110697			9003	protein-coding gene	gene with protein product	"PYK2 N-terminal domain-interacting receptor 2", "retinal degeneration B alpha 1"	608794		PITPNM		9680295	Standard	NM_004910		Approved	DRES9, NIR2, RDGB1, RDGBA1, Rd9, RDGB	uc001oly.3	O00562	OTTHUMG00000167675	ENST00000534749.1:c.3363C>T	11.37:g.67260513G>A						PITPNM1_ENST00000436757.2_Silent_p.A1120A|PITPNM1_ENST00000534749.1_Silent_p.A1121A	p.A1121A	NM_001130848.1|NM_004910.2	NP_001124320.1|NP_004901.2	O00562	PITM1_HUMAN			23	3588	-			1121					A6NME4|Q6T7X3|Q8TBN3|Q9BZ73	Silent	SNP	ENST00000534749.1	37	c.3363C>T	CCDS31620.1																																																																																				0.662	PITPNM1-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395520.1	NM_004910		44	78	0	0	0	1	0	44	78					A	67260513	G	A	67260513	2	1	435	1	0	0	0	0	0	0	0	1	11950	1103	39	2		2	PITPNM1	11	67260513	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	25473	67260513	67746003	5290	26215											
PITPNM1	9600	broad.mit.edu	37	chr11	67265031	67265031	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggctcaggactggccatgtcGctggggatgcgctggggagg	5	7	20	9	2	1	0	1	0	0	0	2	3	1	3	1	8	1	3	1	8	0	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:67265031G>A	ENST00000534749.1	-	12	2090	c.1902C>T	c.(1900-1902)agC>agT	p.S634S	PITPNM1_ENST00000436757.2_Silent_p.S634S|PITPNM1_ENST00000526450.1_5'Flank|PITPNM1_ENST00000356404.3_Silent_p.S634S			O00562	PITM1_HUMAN	phosphatidylinositol transfer protein, membrane-associated 1	634					brain development (GO:0007420)|lipid metabolic process (GO:0006629)|phospholipid transport (GO:0015914)|phototransduction (GO:0007602)|protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|lipid particle (GO:0005811)|membrane (GO:0016020)	metal ion binding (GO:0046872)|phosphatidylinositol transporter activity (GO:0008526)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(3)	18						TGGCCATGTCGCTGGGGATGC	0.672																																					GBM(28;144 709 4607 5525)	ENST00000356404.3																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(3)	18						c.(1900-1902)agC>agT		phosphatidylinositol transfer protein, membrane-associated 1							79	86	84					11																	67265031		2200	4294	6494	SO:0001819	synonymous_variant	9600				brain development|lipid metabolic process|phototransduction|protein transport	cleavage furrow|endoplasmic reticulum membrane|Golgi cisterna membrane|lipid particle|membrane fraction|midbody	metal ion binding|phosphatidylinositol transporter activity	g.chr11:67265031G>A	X98654	CCDS31620.1, CCDS44659.1	11q13	2008-07-21		2003-05-16	ENSG00000110697	ENSG00000110697			9003	protein-coding gene	gene with protein product	"PYK2 N-terminal domain-interacting receptor 2", "retinal degeneration B alpha 1"	608794		PITPNM		9680295	Standard	NM_004910		Approved	DRES9, NIR2, RDGB1, RDGBA1, Rd9, RDGB	uc001oly.3	O00562	OTTHUMG00000167675	ENST00000534749.1:c.1902C>T	11.37:g.67265031G>A						PITPNM1_ENST00000436757.2_Silent_p.S634S|PITPNM1_ENST00000534749.1_Silent_p.S634S	p.S634S	NM_001130848.1|NM_004910.2	NP_001124320.1|NP_004901.2	O00562	PITM1_HUMAN			13	2127	-			634					A6NME4|Q6T7X3|Q8TBN3|Q9BZ73	Silent	SNP	ENST00000534749.1	37	c.1902C>T	CCDS31620.1																																																																																				0.672	PITPNM1-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395520.1	NM_004910		26	41	0	0	0	1	0	26	41					A	67265031	G	A	67265031	2	1	435	1	0	0	0	0	0	0	0	1	11950	1078	38	1		1	PITPNM1	11	67265031	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	4518	67265031	67741485	5291	26216											
PITPNM1	9600	broad.mit.edu	37	chr11	67267630	67267630	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgcttcccaaagctggcatcGggggaggcatctgggcctgg	6	8	16	11	1	1	0	0	0	1	0	3	1	2	1	2	6	2	4	2	6	1	1	rs373924835		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:67267630G>A	ENST00000534749.1	-	5	1091	c.903C>T	c.(901-903)ccC>ccT	p.P301P	PITPNM1_ENST00000436757.2_Silent_p.P301P|PITPNM1_ENST00000356404.3_Silent_p.P301P			O00562	PITM1_HUMAN	phosphatidylinositol transfer protein, membrane-associated 1	301					brain development (GO:0007420)|lipid metabolic process (GO:0006629)|phospholipid transport (GO:0015914)|phototransduction (GO:0007602)|protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|lipid particle (GO:0005811)|membrane (GO:0016020)	metal ion binding (GO:0046872)|phosphatidylinositol transporter activity (GO:0008526)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(3)	18						AGCTGGCATCGGGGGAGGCAT	0.687													G|||	1	0.000199681	0	0	5008	,	,		15105	0		0	False		,,,				2504	0.001				GBM(28;144 709 4607 5525)	ENST00000356404.3																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(3)	18						c.(901-903)ccC>ccT		phosphatidylinositol transfer protein, membrane-associated 1		G	,	3,4325		0,3,2161	27	32	30		903,903	-8.3	0	11		30	0,8508		0,0,4254	no	coding-synonymous,coding-synonymous	PITPNM1	NM_001130848.1,NM_004910.2	,	0,3,6415	AA,AG,GG		0.0,0.0693,0.0234	,	301/1244,301/1245	67267630	3,12833	2164	4254	6418	SO:0001819	synonymous_variant	9600				brain development|lipid metabolic process|phototransduction|protein transport	cleavage furrow|endoplasmic reticulum membrane|Golgi cisterna membrane|lipid particle|membrane fraction|midbody	metal ion binding|phosphatidylinositol transporter activity	g.chr11:67267630G>A	X98654	CCDS31620.1, CCDS44659.1	11q13	2008-07-21		2003-05-16	ENSG00000110697	ENSG00000110697			9003	protein-coding gene	gene with protein product	"PYK2 N-terminal domain-interacting receptor 2", "retinal degeneration B alpha 1"	608794		PITPNM		9680295	Standard	NM_004910		Approved	DRES9, NIR2, RDGB1, RDGBA1, Rd9, RDGB	uc001oly.3	O00562	OTTHUMG00000167675	ENST00000534749.1:c.903C>T	11.37:g.67267630G>A						PITPNM1_ENST00000436757.2_Silent_p.P301P|PITPNM1_ENST00000534749.1_Silent_p.P301P	p.P301P	NM_001130848.1|NM_004910.2	NP_001124320.1|NP_004901.2	O00562	PITM1_HUMAN			6	1128	-			301					A6NME4|Q6T7X3|Q8TBN3|Q9BZ73	Silent	SNP	ENST00000534749.1	37	c.903C>T	CCDS31620.1																																																																																				0.687	PITPNM1-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395520.1	NM_004910		16	21	0	0	0	1	0	16	21					A	67267630	G	A	67267630	2	1	435	1	0	0	0	0	0	0	0	1	11950	1103	39	2		2	PITPNM1	11	67267630	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	2599	67267630	67738886	5292	26217											
PITPNM1	9600	broad.mit.edu	37	chr11	67269354	67269354	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tacatcatggatgaactgctCgatcttggcttgcatgcccc	8	12	9	12	1	2	1	1	1	1	0	3	3	2	2	2	2	5	3	2	2	2	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:67269354C>T	ENST00000534749.1	-	4	807	c.619G>A	c.(619-621)Gag>Aag	p.E207K	PITPNM1_ENST00000436757.2_Missense_Mutation_p.E207K|PITPNM1_ENST00000356404.3_Missense_Mutation_p.E207K			O00562	PITM1_HUMAN	phosphatidylinositol transfer protein, membrane-associated 1	207					brain development (GO:0007420)|lipid metabolic process (GO:0006629)|phospholipid transport (GO:0015914)|phototransduction (GO:0007602)|protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|lipid particle (GO:0005811)|membrane (GO:0016020)	metal ion binding (GO:0046872)|phosphatidylinositol transporter activity (GO:0008526)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(3)	18						ATGAACTGCTCGATCTTGGCT	0.597																																					GBM(28;144 709 4607 5525)	ENST00000356404.3																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(3)	18						c.(619-621)Gag>Aag		phosphatidylinositol transfer protein, membrane-associated 1							91	70	77					11																	67269354		2199	4295	6494	SO:0001583	missense	9600				brain development|lipid metabolic process|phototransduction|protein transport	cleavage furrow|endoplasmic reticulum membrane|Golgi cisterna membrane|lipid particle|membrane fraction|midbody	metal ion binding|phosphatidylinositol transporter activity	g.chr11:67269354C>T	X98654	CCDS31620.1, CCDS44659.1	11q13	2008-07-21		2003-05-16	ENSG00000110697	ENSG00000110697			9003	protein-coding gene	gene with protein product	"PYK2 N-terminal domain-interacting receptor 2", "retinal degeneration B alpha 1"	608794		PITPNM		9680295	Standard	NM_004910		Approved	DRES9, NIR2, RDGB1, RDGBA1, Rd9, RDGB	uc001oly.3	O00562	OTTHUMG00000167675	ENST00000534749.1:c.619G>A	11.37:g.67269354C>T	ENSP00000437286:p.Glu207Lys					PITPNM1_ENST00000436757.2_Missense_Mutation_p.E207K|PITPNM1_ENST00000534749.1_Missense_Mutation_p.E207K	p.E207K	NM_001130848.1|NM_004910.2	NP_001124320.1|NP_004901.2	O00562	PITM1_HUMAN			5	844	-			207					A6NME4|Q6T7X3|Q8TBN3|Q9BZ73	Missense_Mutation	SNP	ENST00000534749.1	37	c.619G>A	CCDS31620.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.330730	0.81690	.	.	ENSG00000110697	ENST00000534749;ENST00000436757;ENST00000356404	T;T;T	0.57595	0.39;0.39;0.39	4.23	4.23	0.50019	START-like domain (1);	0.000000	0.49916	D	0.000129	T	0.73682	0.3618	M	0.93978	3.48	0.50039	D	0.999847	D;D	0.57257	0.979;0.969	P;P	0.54100	0.699;0.742	T	0.83009	-0.0173	10	0.87932	D	0	-13.3456	15.7356	0.77839	0.0:1.0:0.0:0.0	.	207;207	O00562-2;O00562	.;PITM1_HUMAN	K	207	ENSP00000437286:E207K;ENSP00000398787:E207K;ENSP00000348772:E207K	ENSP00000348772:E207K	E	-	1	0	PITPNM1	67025930	1.000000	0.71417	0.995000	0.50966	0.973000	0.67179	7.571000	0.82399	2.359000	0.80004	0.655000	0.94253	GAG		0.597	PITPNM1-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395520.1	NM_004910		11	17	0	0	0	1	0	11	17					T	67269354	C	T	67269354	3	4	435	1	0	0	0	0	1	0	0	0	11950	893	31	2	3195	2	PITPNM1	11	67269354	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	1724	67269354	67737162	5293	26218											
PITPNM1	9600	broad.mit.edu	37	chr11	67270021	67270021	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccaggattcctcttctacctGcagggcagccttgggcagca	7	9	11	14	0	2	0	0	0	2	0	3	1	3	1	4	3	4	4	4	3	1	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:67270021G>A	ENST00000534749.1	-	2	435	c.247C>T	c.(247-249)Cag>Tag	p.Q83*	PITPNM1_ENST00000436757.2_Nonsense_Mutation_p.Q83*|PITPNM1_ENST00000356404.3_Nonsense_Mutation_p.Q83*			O00562	PITM1_HUMAN	phosphatidylinositol transfer protein, membrane-associated 1	83					brain development (GO:0007420)|lipid metabolic process (GO:0006629)|phospholipid transport (GO:0015914)|phototransduction (GO:0007602)|protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|lipid particle (GO:0005811)|membrane (GO:0016020)	metal ion binding (GO:0046872)|phosphatidylinositol transporter activity (GO:0008526)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(3)	18						TCTTCTACCTGCAGGGCAGCC	0.667																																					GBM(28;144 709 4607 5525)	ENST00000356404.3																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(3)	18						c.(247-249)Cag>Tag		phosphatidylinositol transfer protein, membrane-associated 1							75	69	71					11																	67270021		2200	4295	6495	SO:0001587	stop_gained	9600				brain development|lipid metabolic process|phototransduction|protein transport	cleavage furrow|endoplasmic reticulum membrane|Golgi cisterna membrane|lipid particle|membrane fraction|midbody	metal ion binding|phosphatidylinositol transporter activity	g.chr11:67270021G>A	X98654	CCDS31620.1, CCDS44659.1	11q13	2008-07-21		2003-05-16	ENSG00000110697	ENSG00000110697			9003	protein-coding gene	gene with protein product	"PYK2 N-terminal domain-interacting receptor 2", "retinal degeneration B alpha 1"	608794		PITPNM		9680295	Standard	NM_004910		Approved	DRES9, NIR2, RDGB1, RDGBA1, Rd9, RDGB	uc001oly.3	O00562	OTTHUMG00000167675	ENST00000534749.1:c.247C>T	11.37:g.67270021G>A	ENSP00000437286:p.Gln83*					PITPNM1_ENST00000436757.2_Nonsense_Mutation_p.Q83*|PITPNM1_ENST00000534749.1_Nonsense_Mutation_p.Q83*	p.Q83*	NM_001130848.1|NM_004910.2	NP_001124320.1|NP_004901.2	O00562	PITM1_HUMAN			3	472	-			83					A6NME4|Q6T7X3|Q8TBN3|Q9BZ73	Nonsense_Mutation	SNP	ENST00000534749.1	37	c.247C>T	CCDS31620.1	.	.	.	.	.	.	.	.	.	.	G	35	5.552504	0.96501	.	.	ENSG00000110697	ENST00000534749;ENST00000436757;ENST00000356404;ENST00000533391;ENST00000532703;ENST00000528559;ENST00000524901	.	.	.	4.17	4.17	0.49024	.	0.370454	0.19916	N	0.103199	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06494	T	0.89	-22.0813	15.5871	0.76491	0.0:0.0:1.0:0.0	.	.	.	.	X	83	.	ENSP00000348772:Q83X	Q	-	1	0	PITPNM1	67026597	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	3.524000	0.53495	2.313000	0.78055	0.561000	0.74099	CAG		0.667	PITPNM1-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395520.1	NM_004910		19	23	0	0	0	1	0	19	23					A	67270021	G	A	67270021	4	1	435	1	0	0	0	0	0	1	0	0	11950	1328	46	3	3575	3	PITPNM1	11	67270021	Nonsense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	667	67270021	67736495	5294	26219											
GSTP1	2950	broad.mit.edu	37	chr11	67352222	67352222	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	accagtccaataccatcctgCgtcacctgggccgcaccctt	8	8	7	18	2	1	0	1	0	0	0	3	0	3	0	7	1	2	1	7	1	2	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:67352222C>T	ENST00000398606.3	+	4	460	c.211C>T	c.(211-213)Cgt>Tgt	p.R71C	GSTP1_ENST00000398603.1_Missense_Mutation_p.R71C|GSTP1_ENST00000498765.1_3'UTR	NM_000852.3	NP_000843.1	P09211	GSTP1_HUMAN	glutathione S-transferase pi 1	71	GST N-terminal.				cellular response to lipopolysaccharide (GO:0071222)|central nervous system development (GO:0007417)|common myeloid progenitor cell proliferation (GO:0035726)|glutathione derivative biosynthetic process (GO:1901687)|glutathione metabolic process (GO:0006749)|negative regulation of acute inflammatory response (GO:0002674)|negative regulation of apoptotic process (GO:0043066)|negative regulation of biosynthetic process (GO:0009890)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of interleukin-1 beta production (GO:0032691)|negative regulation of JUN kinase activity (GO:0043508)|negative regulation of leukocyte proliferation (GO:0070664)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of monocyte chemotactic protein-1 production (GO:0071638)|negative regulation of nitric-oxide synthase biosynthetic process (GO:0051771)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of stress-activated MAPK cascade (GO:0032873)|negative regulation of tumor necrosis factor production (GO:0032720)|negative regulation of tumor necrosis factor-mediated signaling pathway (GO:0010804)|nitric oxide storage (GO:0035732)|positive regulation of superoxide anion generation (GO:0032930)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of stress-activated MAPK cascade (GO:0032872)|response to reactive oxygen species (GO:0000302)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|TRAF2-GSTP1 complex (GO:0097057)|vesicle (GO:0031982)	dinitrosyl-iron complex binding (GO:0035731)|glutathione transferase activity (GO:0004364)|JUN kinase binding (GO:0008432)|kinase regulator activity (GO:0019207)|nitric oxide binding (GO:0070026)|S-nitrosoglutathione binding (GO:0035730)			central_nervous_system(1)|cervix(1)|endometrium(4)|lung(2)|ovary(1)	9					Busulfan(DB01008)|Carboplatin(DB00958)|Chlorambucil(DB00291)|Cisplatin(DB00515)|Clomipramine(DB01242)|Etoposide(DB00773)|Glutathione(DB00143)|Oxaliplatin(DB00526)|Vitamin E(DB00163)	TACCATCCTGCGTCACCTGGG	0.612																																						ENST00000398606.3																			0				central_nervous_system(1)|cervix(1)|endometrium(4)|lung(2)|ovary(1)	9						c.(211-213)Cgt>Tgt		glutathione S-transferase pi 1	Ethacrynic acid(DB00903)|Glutathione(DB00143)						83	92	89					11																	67352222		2005	4159	6164	SO:0001583	missense	2950				anti-apoptosis|cellular response to lipopolysaccharide|central nervous system development|common myeloid progenitor cell proliferation|glutathione metabolic process|negative regulation of acute inflammatory response|negative regulation of ERK1 and ERK2 cascade|negative regulation of fibroblast proliferation|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 beta production|negative regulation of JUN kinase activity|negative regulation of leukocyte proliferation|negative regulation of monocyte chemotactic protein-1 production|negative regulation of necrotic cell death|negative regulation of nitric-oxide synthase 2 biosynthetic process|negative regulation of stress-activated MAPK cascade|negative regulation of tumor necrosis factor production|nitric oxide storage|positive regulation of superoxide anion generation|response to reactive oxygen species|xenobiotic metabolic process	cytosol|protein complex	dinitrosyl-iron complex binding|glutathione transferase activity|JUN kinase binding|kinase regulator activity|nitric oxide binding|S-nitrosoglutathione binding	g.chr11:67352222C>T	U12472	CCDS41679.1	11q13.2	2014-09-17	2008-07-18		ENSG00000084207	ENSG00000084207	2.5.1.18	"Glutathione S-transferases / Soluble"	4638	protein-coding gene	gene with protein product		134660		FAEES3, GST3		1885604, 7587384, 19915149	Standard	NM_000852		Approved	GSTP	uc001omf.3	P09211	OTTHUMG00000137430	ENST00000398606.3:c.211C>T	11.37:g.67352222C>T	ENSP00000381607:p.Arg71Cys					GSTP1_ENST00000498765.1_3'UTR|GSTP1_ENST00000398603.1_Missense_Mutation_p.R71C	p.R71C	NM_000852.3	NP_000843.1	P09211	GSTP1_HUMAN			4	460	+			71			GST N-terminal.		O00460|Q15690|Q5TZY3	Missense_Mutation	SNP	ENST00000398606.3	37	c.211C>T	CCDS41679.1	.	.	.	.	.	.	.	.	.	.	C	15.29	2.790259	0.50102	.	.	ENSG00000084207	ENST00000398606;ENST00000398603	T;T	0.09163	3.01;3.01	5.65	-3.57	0.04612	Glutathione S-transferase, N-terminal (2);Thioredoxin-like fold (2);	0.143985	0.38492	N	0.001670	T	0.33206	0.0855	H	0.95884	3.735	0.43667	D	0.996097	D	0.54601	0.967	P	0.58660	0.843	T	0.54636	-0.8264	9	0.87932	D	0	-17.2282	9.8888	0.41276	0.5263:0.2742:0.1996:0.0	.	71	P09211	GSTP1_HUMAN	C	71	ENSP00000381607:R71C;ENSP00000381604:R71C	ENSP00000381604:R71C	R	+	1	0	GSTP1	67108798	0.974000	0.33945	0.609000	0.28983	0.162000	0.22319	-0.053000	0.11846	-0.232000	0.09811	-0.187000	0.12897	CGT		0.612	GSTP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268504.1	NM_000852		10	42	0	0	0	1	0	10	42					T	67352222	C	T	67352222	3	4	435	1	0	0	0	0	1	0	0	0	6844	768	27	1	225	1	GSTP1	11	67352222	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	82201	67352222	67654294	5295	26220											
TBX10	347853	broad.mit.edu	37	chr11	67400480	67400480	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtgaagatgaaggacttgAagttctcctgggcatagcgc	10	10	13	8	1	1	4	0	3	1	1	2	5	1	5	1	2	1	2	1	2	4	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:67400480A>G	ENST00000335385.3	-	5	731	c.644T>C	c.(643-645)tTc>tCc	p.F215S		NM_005995.4	NP_005986.2	O75333	TBX10_HUMAN	T-box 10	215					anatomical structure morphogenesis (GO:0009653)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|lung(4)|ovary(1)	7						GAAGGACTTGAAGTTCTCCTG	0.572																																						ENST00000335385.3																			0				endometrium(2)|lung(4)|ovary(1)	7						c.(643-645)tTc>tCc		T-box 10							294	256	269					11																	67400480		2200	4294	6494	SO:0001583	missense	347853				anatomical structure morphogenesis|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr11:67400480A>G	AH006177	CCDS31621.1	11q13.2	2005-10-11	2004-10-05		ENSG00000167800	ENSG00000167800		"T-boxes"	11593	protein-coding gene	gene with protein product		604648	"T-box 7"	TBX7		9545502	Standard	NM_005995		Approved	TBX13	uc001omp.3	O75333	OTTHUMG00000167291	ENST00000335385.3:c.644T>C	11.37:g.67400480A>G	ENSP00000335191:p.Phe215Ser						p.F215S	NM_005995.4	NP_005986.2	O75333	TBX10_HUMAN			5	731	-			215					Q14D64|Q86XS3	Missense_Mutation	SNP	ENST00000335385.3	37	c.644T>C	CCDS31621.1	.	.	.	.	.	.	.	.	.	.	A	18.52	3.640919	0.67244	.	.	ENSG00000167800	ENST00000335385	D	0.87887	-2.31	4.19	4.19	0.49359	p53-like transcription factor, DNA-binding (1);	0.000000	0.64402	D	0.000004	D	0.92041	0.7478	M	0.79926	2.475	0.46437	D	0.999043	D	0.58970	0.984	P	0.61722	0.893	D	0.92890	0.6330	10	0.72032	D	0.01	.	12.3767	0.55283	1.0:0.0:0.0:0.0	.	215	O75333	TBX10_HUMAN	S	215	ENSP00000335191:F215S	ENSP00000335191:F215S	F	-	2	0	TBX10	67157056	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	4.207000	0.58480	1.761000	0.52028	0.459000	0.35465	TTC		0.572	TBX10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394034.1	NM_005995		49	73	0	0	0	1	0	49	73					G	67400480	A	G	67400480	3	3	435	1	0	0	0	0	1	0	0	0	15648	246	9	4	529	4	TBX10	11	67400480	Missense_Mutation	SNP	A	TCGA-XK-AAIW-01A-11D-A41K-08	48258	67400480	67606036	5296	26221											
ALDH3B2	222	broad.mit.edu	37	chr11	67431903	67431903	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaggcgtacagggccaggggCttctcctgccggttgatgaa	8	8	15	10	2	1	2	0	2	1	0	2	2	1	2	3	5	2	3	3	5	3	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:67431903C>T	ENST00000349015.3	-	8	1275	c.837G>A	c.(835-837)aaG>aaA	p.K279K	ALDH3B2_ENST00000530069.1_Silent_p.K279K|ALDH3B2_ENST00000531881.1_5'Flank	NM_000695.3	NP_000686	P48448	AL3B2_HUMAN	aldehyde dehydrogenase 3 family, member B2	279					alcohol metabolic process (GO:0006066)|ethanol catabolic process (GO:0006068)|lipid metabolic process (GO:0006629)		3-chloroallyl aldehyde dehydrogenase activity (GO:0004028)|aldehyde dehydrogenase [NAD(P)+] activity (GO:0004030)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|prostate(2)|stomach(1)|urinary_tract(1)	18						GGGCCAGGGGCTTCTCCTGCC	0.642																																						ENST00000349015.3																			0				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|prostate(2)|stomach(1)|urinary_tract(1)	18						c.(835-837)aaG>aaA		aldehyde dehydrogenase 3 family, member B2	NADH(DB00157)						124	114	118					11																	67431903		2200	4294	6494	SO:0001819	synonymous_variant	222				alcohol metabolic process|cellular aldehyde metabolic process|lipid metabolic process		3-chloroallyl aldehyde dehydrogenase activity|aldehyde dehydrogenase	g.chr11:67431903C>T	U37519	CCDS31622.1	11q13.2	2014-09-04			ENSG00000132746	ENSG00000132746	1.2.1.5	"Aldehyde dehydrogenases"	411	protein-coding gene	gene with protein product	"aldehyde dehydrogenase 8", "acetaldehyde dehydrogenase 8"	601917		ALDH8		8890755, 9161417	Standard	NM_000695		Approved		uc001oms.3	P48448	OTTHUMG00000167284	ENST00000349015.3:c.837G>A	11.37:g.67431903C>T						ALDH3B2_ENST00000530069.1_Silent_p.K279K	p.K279K	NM_000695.3	NP_000686.2	P48448	AL3B2_HUMAN			8	1275	-			279					Q53Y98|Q8NAL5|Q96IB2	Silent	SNP	ENST00000349015.3	37	c.837G>A	CCDS31622.1	.	.	.	.	.	.	.	.	.	.	C	7.882	0.730519	0.15507	.	.	ENSG00000132746	ENST00000531248	.	.	.	3.72	3.72	0.42706	.	.	.	.	.	T	0.57725	0.2073	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.55029	-0.8204	4	.	.	.	.	8.5871	0.33664	0.0:0.8898:0.0:0.1102	.	.	.	.	T	50	.	.	A	-	1	0	ALDH3B2	67188479	1.000000	0.71417	1.000000	0.80357	0.711000	0.40976	1.155000	0.31700	2.093000	0.63338	0.561000	0.74099	GCC		0.642	ALDH3B2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394004.1	NM_000695		32	46	0	0	0	1	0	32	46					T	67431903	C	T	67431903	2	4	435	1	0	0	0	0	0	0	0	1	500	796	28	3		3	ALDH3B2	11	67431903	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	31423	67431903	67574613	5297	26222											
UNC93B1	81622	broad.mit.edu	37	chr11	67770520	67770520	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacaggtgtgtagagcagggCggcgatgggagtcacgttga	9	7	18	7	3	1	2	1	1	0	1	1	4	1	3	0	4	1	3	0	4	1	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:67770520C>T	ENST00000227471.2	-	3	443	c.364G>A	c.(364-366)Gcc>Acc	p.A122T	UNC93B1_ENST00000530331.1_5'UTR	NM_030930.2	NP_112192.2	Q9H1C4	UN93B_HUMAN	unc-93 homolog B1 (C. elegans)	122					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|intracellular protein transport (GO:0006886)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 7 signaling pathway (GO:0034154)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	early phagosome (GO:0032009)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|endosome (GO:0005768)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)											TAGAGCAGGGCGGCGATGGGA	0.627																																						ENST00000227471.2																			0											c.(364-366)Gcc>Acc		unc-93 homolog B1 (C. elegans)							83	89	87					11																	67770520		2176	4265	6441	SO:0001583	missense	81622				innate immune response|intracellular protein transport|response to virus|toll-like receptor 3 signaling pathway|toll-like receptor 7 signaling pathway|toll-like receptor 9 signaling pathway	early phagosome|endoplasmic reticulum membrane|endosome|integral to membrane|lysosome		g.chr11:67770520C>T	AJ271326	CCDS73334.1	11q13.2	2014-09-17	2001-11-28		ENSG00000110057	ENSG00000110057			13481	protein-coding gene	gene with protein product		608204	"unc93 (C. elegans) homolog B1"			11867227	Standard	NM_030930		Approved	UNC93	uc001omw.1	Q9H1C4	OTTHUMG00000167472	ENST00000227471.2:c.364G>A	11.37:g.67770520C>T	ENSP00000227471:p.Ala122Thr					UNC93B1_ENST00000530331.1_5'UTR	p.A122T	NM_030930.2	NP_112192.2	Q9H1C4	UN93B_HUMAN			3	443	-			122					O95764|Q569H6|Q710D4	Missense_Mutation	SNP	ENST00000227471.2	37	c.364G>A		.	.	.	.	.	.	.	.	.	.	C	18.23	3.577859	0.65878	.	.	ENSG00000110057	ENST00000227471;ENST00000528423	T;T	0.43688	0.94;0.94	4.23	4.23	0.50019	.	0.236545	0.42420	D	0.000714	T	0.30386	0.0763	.	.	.	0.35752	D	0.819485	P	0.49447	0.924	B	0.35655	0.207	T	0.45483	-0.9258	9	0.33940	T	0.23	-14.4109	15.5501	0.76145	0.0:1.0:0.0:0.0	.	122	Q9H1C4	UN93B_HUMAN	T	122;51	ENSP00000227471:A122T;ENSP00000437195:A51T	ENSP00000227471:A122T	A	-	1	0	UNC93B1	67527096	1.000000	0.71417	0.769000	0.31535	0.867000	0.49689	5.828000	0.69307	2.047000	0.60756	0.561000	0.74099	GCC		0.627	UNC93B1-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_030930		3	9	0	0	0	1	0	3	9					T	67770520	C	T	67770520	3	4	435	1	0	0	0	0	1	0	0	0	16994	768	27	1	1464	1	UNC93B1	11	67770520	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	338617	67770520	67235996	5298	26223											
TCIRG1	10312	broad.mit.edu	37	chr11	67815372	67815372	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcattcctggcccagcacaCgatgcttaccctggatccca	8	9	8	16	1	0	0	0	0	0	0	2	2	2	1	4	2	4	3	4	2	1	2	rs141474168	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:67815372C>T	ENST00000265686.3	+	13	1595	c.1487C>T	c.(1486-1488)aCg>aTg	p.T496M	TCIRG1_ENST00000532635.1_Missense_Mutation_p.T280M|RP11-802E16.3_ENST00000529934.1_RNA	NM_006019.3	NP_006010.2	Q13488	VPP3_HUMAN	T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 subunit A3	496					ATP hydrolysis coupled proton transport (GO:0015991)|cellular defense response (GO:0006968)|cellular iron ion homeostasis (GO:0006879)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|positive regulation of cell proliferation (GO:0008284)|proton transport (GO:0015992)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|endosome membrane (GO:0010008)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|mitochondrion (GO:0005739)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)|vacuolar proton-transporting V-type ATPase, V0 domain (GO:0000220)	hydrogen ion transmembrane transporter activity (GO:0015078)|transporter activity (GO:0005215)			breast(1)|endometrium(4)|large_intestine(3)|lung(4)|ovary(3)|prostate(1)	16						GCCCAGCACACGATGCTTACC	0.682													C|||	3	0.000599042	0.0023	0	5008	,	,		17471	0		0	False		,,,				2504	0					ENST00000265686.3																			0				breast(1)|endometrium(4)|large_intestine(3)|lung(4)|ovary(3)|prostate(1)	16						c.(1486-1488)aCg>aTg		T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 subunit A3		C	MET/THR,MET/THR	7,4391	12.9+/-30.5	0,7,2192	116	96	103		1487,839	2.7	0.1	11	dbSNP_134	103	0,8588		0,0,4294	yes	missense,missense	TCIRG1	NM_006019.3,NM_006053.3	81,81	0,7,6486	TT,TC,CC		0.0,0.1592,0.0539	benign,benign	496/831,280/615	67815372	7,12979	2199	4294	6493	SO:0001583	missense	10312				ATP hydrolysis coupled proton transport|cellular defense response|cellular iron ion homeostasis|insulin receptor signaling pathway|positive regulation of cell proliferation|transferrin transport	apical plasma membrane|endosome membrane|integral to plasma membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	hydrogen ion transmembrane transporter activity	g.chr11:67815372C>T	AF025374	CCDS8177.1, CCDS53670.1	11q13.2	2014-09-17	2006-01-20		ENSG00000110719	ENSG00000110719		"ATPases / V-type"	11647	protein-coding gene	gene with protein product	"T-cell immune response cDNA 7"	604592	"T-cell, immune regulator 1", "T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 protein a isoform 3", "T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 protein A3"			8579597, 9806637	Standard	NM_006019		Approved	TIRC7, OC-116, OC116, ATP6N1C, Atp6i, a3, ATP6V0A3	uc001one.3	Q13488	OTTHUMG00000167358	ENST00000265686.3:c.1487C>T	11.37:g.67815372C>T	ENSP00000265686:p.Thr496Met					TCIRG1_ENST00000532635.1_Missense_Mutation_p.T280M	p.T496M	NM_006019.3	NP_006010.2	Q13488	VPP3_HUMAN			13	1595	+			496					O75877|Q8WVC5	Missense_Mutation	SNP	ENST00000265686.3	37	c.1487C>T	CCDS8177.1	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	C	6.381	0.438456	0.12104	0.001592	0.0	ENSG00000110719	ENST00000265686;ENST00000532635	D;D	0.86164	-2.08;-2.08	3.61	2.66	0.31614	.	0.609279	0.17260	N	0.180822	T	0.76997	0.4066	N	0.16266	0.395	0.09310	N	1	B	0.17268	0.021	B	0.17098	0.017	T	0.67457	-0.5666	10	0.51188	T	0.08	-19.2907	11.1072	0.48210	0.187:0.813:0.0:0.0	.	496	Q13488	VPP3_HUMAN	M	496;280	ENSP00000265686:T496M;ENSP00000434407:T280M	ENSP00000265686:T496M	T	+	2	0	TCIRG1	67571948	0.000000	0.05858	0.058000	0.19502	0.282000	0.26991	0.270000	0.18607	0.820000	0.34516	0.462000	0.41574	ACG		0.682	TCIRG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394305.1	NM_006019		26	48	0	0	0	1	0	26	48					T	67815372	C	T	67815372	3	4	435	1	0	0	0	0	1	0	0	0	15700	536	19	1	1533	1	TCIRG1	11	67815372	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	44852	67815372	67191144	5299	26224											
SUV420H1	51111	broad.mit.edu	37	chr11	67925797	67925797	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtcacaactgaacaaccgacGggtgaaggagcacagtctgt	13	6	12	10	2	2	2	1	2	1	0	2	4	2	3	1	2	4	1	1	2	4	0	rs200400289		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:67925797G>A	ENST00000304363.4	-	11	2369	c.2016C>T	c.(2014-2016)ccC>ccT	p.P672P		NM_017635.3	NP_060105	Q4FZB7	SV421_HUMAN	suppressor of variegation 4-20 homolog 1 (Drosophila)	672					histone H4-K20 trimethylation (GO:0034773)|muscle organ development (GO:0007517)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	condensed nuclear chromosome, centromeric region (GO:0000780)	histone methyltransferase activity (H4-K20 specific) (GO:0042799)|histone-lysine N-methyltransferase activity (GO:0018024)	p.P672P(1)		NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(15)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	46						AACAACCGACGGGTGAAGGAG	0.493																																						ENST00000304363.4																			1	Substitution - coding silent(1)	p.P672P(1)	lung(1)	NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(15)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	46						c.(2014-2016)ccC>ccT		suppressor of variegation 4-20 homolog 1 (Drosophila)							88	79	82					11																	67925797		2200	4294	6494	SO:0001819	synonymous_variant	51111				regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding	g.chr11:67925797G>A	AL512763	CCDS31623.1, CCDS44660.1	11q13.2	2011-07-01			ENSG00000110066	ENSG00000110066		"Chromatin-modifying enzymes / K-methyltransferases"	24283	protein-coding gene	gene with protein product		610881				10810093, 11401438	Standard	NM_016028		Approved	CGI-85, KMT5B	uc001onm.1	Q4FZB7	OTTHUMG00000150484	ENST00000304363.4:c.2016C>T	11.37:g.67925797G>A							p.P672P	NM_017635.3	NP_060105.3	Q4FZB7	SV421_HUMAN			11	2369	-			672					B7WNX7|Q3SX56|Q4V775|Q6P150|Q96E44|Q9BUL0|Q9H022|Q9H2K3|Q9NXV3|Q9Y393	Silent	SNP	ENST00000304363.4	37	c.2016C>T	CCDS31623.1																																																																																				0.493	SUV420H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318319.1	NM_017635		12	16	0	0	0	1	0	12	16					A	67925797	G	A	67925797	2	1	435	1	0	0	0	0	0	0	0	1	15411	1103	39	2		2	SUV420H1	11	67925797	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	110425	67925797	67080719	5300	26225											
SUV420H1	51111	broad.mit.edu	37	chr11	67941332	67941332	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgagtatctattacatggcaAtatttcaaatccactgtcag	13	14	6	8	0	3	1	2	1	1	0	4	1	4	1	1	1	1	2	1	1	6	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:67941332A>C	ENST00000304363.4	-	6	945	c.592T>G	c.(592-594)Ttg>Gtg	p.L198V	SUV420H1_ENST00000401547.2_Missense_Mutation_p.L198V|SUV420H1_ENST00000405515.1_Missense_Mutation_p.L198V|SUV420H1_ENST00000402185.2_Missense_Mutation_p.L175V|SUV420H1_ENST00000402789.1_Missense_Mutation_p.L198V	NM_017635.3	NP_060105	Q4FZB7	SV421_HUMAN	suppressor of variegation 4-20 homolog 1 (Drosophila)	198	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				histone H4-K20 trimethylation (GO:0034773)|muscle organ development (GO:0007517)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	condensed nuclear chromosome, centromeric region (GO:0000780)	histone methyltransferase activity (H4-K20 specific) (GO:0042799)|histone-lysine N-methyltransferase activity (GO:0018024)			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(15)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	46						TTACATGGCAATATTTCAAAT	0.294																																						ENST00000304363.4																			0				NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(15)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	46						c.(592-594)Ttg>Gtg		suppressor of variegation 4-20 homolog 1 (Drosophila)							104	97	99					11																	67941332		2199	4293	6492	SO:0001583	missense	51111				regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding	g.chr11:67941332A>C	AL512763	CCDS31623.1, CCDS44660.1	11q13.2	2011-07-01			ENSG00000110066	ENSG00000110066		"Chromatin-modifying enzymes / K-methyltransferases"	24283	protein-coding gene	gene with protein product		610881				10810093, 11401438	Standard	NM_016028		Approved	CGI-85, KMT5B	uc001onm.1	Q4FZB7	OTTHUMG00000150484	ENST00000304363.4:c.592T>G	11.37:g.67941332A>C	ENSP00000305899:p.Leu198Val					SUV420H1_ENST00000402185.2_Missense_Mutation_p.L175V|SUV420H1_ENST00000405515.1_Missense_Mutation_p.L198V|SUV420H1_ENST00000402789.1_Missense_Mutation_p.L198V|SUV420H1_ENST00000401547.2_Missense_Mutation_p.L198V	p.L198V	NM_017635.3	NP_060105.3	Q4FZB7	SV421_HUMAN			6	945	-			198			SET.		B7WNX7|Q3SX56|Q4V775|Q6P150|Q96E44|Q9BUL0|Q9H022|Q9H2K3|Q9NXV3|Q9Y393	Missense_Mutation	SNP	ENST00000304363.4	37	c.592T>G	CCDS31623.1	.	.	.	.	.	.	.	.	.	.	A	16.18	3.050604	0.55218	.	.	ENSG00000110066	ENST00000304363;ENST00000401547;ENST00000405515;ENST00000402789;ENST00000402185;ENST00000533271	T;T;T;T;T;D	0.86230	0.96;0.96;0.96;0.96;0.96;-2.09	5.33	-7.05	0.01573	SET domain (1);	0.000000	0.85682	D	0.000000	D	0.86053	0.5841	N	0.20483	0.58	0.54753	D	0.999986	B;B;D;D	0.67145	0.009;0.127;0.996;0.963	B;B;D;P	0.75484	0.008;0.173;0.986;0.805	D	0.84150	0.0422	10	0.42905	T	0.14	-13.7243	20.0902	0.97815	0.2324:0.0:0.7676:0.0	.	175;198;198;198	B7WNX0;B5MCB3;Q4FZB7-2;Q4FZB7	.;.;.;SV421_HUMAN	V	198;198;198;198;175;26	ENSP00000305899:L198V;ENSP00000385965:L198V;ENSP00000385640:L198V;ENSP00000385005:L198V;ENSP00000384724:L175V;ENSP00000433589:L26V	ENSP00000305899:L198V	L	-	1	2	SUV420H1	67697908	0.619000	0.27059	0.661000	0.29709	0.996000	0.88848	-0.015000	0.12634	-1.241000	0.02526	0.482000	0.46254	TTG		0.294	SUV420H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318319.1	NM_017635		6	114	0	0	0	1	0	6	114					C	67941332	A	C	67941332	3	2	435	1	0	0	0	0	1	0	0	0	15411	98	4	5	2097	5	SUV420H1	11	67941332	Missense_Mutation	SNP	A	TCGA-XK-AAIW-01A-11D-A41K-08	15535	67941332	67065184	5301	26226											
C11orf24	53838	broad.mit.edu	37	chr11	68029279	68029279	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggagagttttgtctaccacgGcctgggtgaggggctcagtg	6	10	17	8	1	2	2	1	1	1	1	2	3	2	2	2	5	1	2	2	5	1	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:68029279G>A	ENST00000304271.6	-	4	1586	c.1184C>T	c.(1183-1185)gCc>gTc	p.A395V	C11orf24_ENST00000530166.1_5'Flank|C11orf24_ENST00000533310.1_Intron	NM_022338.3	NP_071733.1	Q96F05	CK024_HUMAN	chromosome 11 open reading frame 24	395						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(3)|kidney(3)|large_intestine(3)|lung(3)|ovary(1)	13						GTCTACCACGGCCTGGGTGAG	0.587																																					NSCLC(21;855 905 4198 36694)	ENST00000304271.6																			0				endometrium(3)|kidney(3)|large_intestine(3)|lung(3)|ovary(1)	13						c.(1183-1185)gCc>gTc		chromosome 11 open reading frame 24							101	92	95					11																	68029279		2200	4294	6494	SO:0001583	missense	53838					integral to membrane		g.chr11:68029279G>A	AF264781	CCDS8180.1, CCDS73338.1	11q13.2	2014-01-08			ENSG00000171067	ENSG00000171067			1174	protein-coding gene	gene with protein product		610880				11401438, 24312644	Standard	NM_022338		Approved	DM4E3	uc001onr.4	Q96F05	OTTHUMG00000167478	ENST00000304271.6:c.1184C>T	11.37:g.68029279G>A	ENSP00000307264:p.Ala395Val					C11orf24_ENST00000533310.1_Intron	p.A395V	NM_022338.3	NP_071733.1	Q96F05	CK024_HUMAN			4	1586	-			395					Q9H2K4	Missense_Mutation	SNP	ENST00000304271.6	37	c.1184C>T	CCDS8180.1	.	.	.	.	.	.	.	.	.	.	G	17.83	3.486281	0.63962	.	.	ENSG00000171067	ENST00000304271	T	0.31769	1.48	4.89	1.63	0.23807	.	0.571965	0.13605	N	0.375588	T	0.19886	0.0478	L	0.43152	1.355	0.09310	N	0.999994	P	0.39311	0.667	B	0.32928	0.155	T	0.09975	-1.0650	10	0.36615	T	0.2	-3.8734	5.7176	0.17968	0.1947:0.0:0.5903:0.2151	.	395	Q96F05	CK024_HUMAN	V	395	ENSP00000307264:A395V	ENSP00000307264:A395V	A	-	2	0	C11orf24	67785855	0.014000	0.17966	0.001000	0.08648	0.010000	0.07245	1.693000	0.37742	0.475000	0.27415	0.484000	0.47621	GCC		0.587	C11orf24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394750.1	NM_022338		16	26	0	0	0	1	0	16	26					A	68029279	G	A	68029279	3	1	435	1	0	0	0	0	1	0	0	0	1635	1203	42	3	169	3	C11orf24	11	68029279	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	87947	68029279	66977237	5302	26227											
LRP5	4041	broad.mit.edu	37	chr11	68154117	68154117	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcgcctcaacggcacctcccGcaagatcctggtgtcggagg	7	6	13	15	4	1	1	1	0	0	1	4	2	3	2	4	4	1	2	4	4	2	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:68154117G>A	ENST00000294304.7	+	6	1455	c.1349G>A	c.(1348-1350)cGc>cAc	p.R450H		NM_002335.2	NP_002326.2	O75197	LRP5_HUMAN	low density lipoprotein receptor-related protein 5	450	Beta-propeller 2.				adipose tissue development (GO:0060612)|anatomical structure regression (GO:0060033)|anterior/posterior pattern specification (GO:0009952)|apoptotic process involved in patterning of blood vessels (GO:1902262)|bone marrow development (GO:0048539)|bone morphogenesis (GO:0060349)|bone remodeling (GO:0046849)|branching involved in mammary gland duct morphogenesis (GO:0060444)|canonical Wnt signaling pathway (GO:0060070)|cell migration involved in gastrulation (GO:0042074)|cell-cell signaling involved in mammary gland development (GO:0060764)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic digit morphogenesis (GO:0042733)|embryonic limb morphogenesis (GO:0030326)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|endocytosis (GO:0006897)|extracellular matrix-cell signaling (GO:0035426)|gastrulation with mouth forming second (GO:0001702)|glucose catabolic process (GO:0006007)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|osteoblast development (GO:0002076)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of mitosis (GO:0045840)|positive regulation of osteoblast proliferation (GO:0033690)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of apoptotic process (GO:0042981)|regulation of blood pressure (GO:0008217)|regulation of bone remodeling (GO:0046850)|regulation of canonical Wnt signaling pathway (GO:0060828)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|response to peptide hormone (GO:0043434)|retina morphogenesis in camera-type eye (GO:0060042)|retinal blood vessel morphogenesis (GO:0061304)|somatic stem cell maintenance (GO:0035019)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway involved in dorsal/ventral axis specification (GO:0044332)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	coreceptor activity (GO:0015026)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						GGCACCTCCCGCAAGATCCTG	0.701																																						ENST00000294304.7																			0				autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						c.(1348-1350)cGc>cAc		low density lipoprotein receptor-related protein 5							43	38	40					11																	68154117		2200	4293	6493	SO:0001583	missense	4041				adipose tissue development|bone marrow development|bone morphogenesis|canonical Wnt receptor signaling pathway|cholesterol homeostasis|endocytosis|glucose catabolic process|negative regulation of osteoblast differentiation|negative regulation of protein serine/threonine kinase activity|positive regulation of fat cell differentiation|positive regulation of mesenchymal cell proliferation|positive regulation of mitosis|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of canonical Wnt receptor signaling pathway|retina morphogenesis in camera-type eye|retinal blood vessel morphogenesis|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	endoplasmic reticulum|integral to membrane|plasma membrane|receptor complex	protein binding|receptor activity	g.chr11:68154117G>A	AF064548	CCDS8181.1	11q13.4	2014-01-28	2003-03-12		ENSG00000162337	ENSG00000162337		"Low density lipoprotein receptors"	6697	protein-coding gene	gene with protein product		603506	"osteoporosis pseudoglioma syndrome", "exudative vitreoretinopathy 1"	LRP7, OPPG, EVR1		9714764, 10049586	Standard	XM_005273994		Approved	LR3, BMND1, HBM, OPS, OPTA1, VBCH2, EVR4	uc001ont.3	O75197	OTTHUMG00000167570	ENST00000294304.7:c.1349G>A	11.37:g.68154117G>A	ENSP00000294304:p.Arg450His						p.R450H	NM_002335.2	NP_002326.2	O75197	LRP5_HUMAN			6	1455	+			450			Beta-propeller 2.		Q96TD6|Q9UES7|Q9UP66	Missense_Mutation	SNP	ENST00000294304.7	37	c.1349G>A	CCDS8181.1	.	.	.	.	.	.	.	.	.	.	G	27.2	4.811343	0.90707	.	.	ENSG00000162337	ENST00000294304	D	0.97553	-4.43	3.94	3.02	0.34903	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.43919	U	0.000507	D	0.98058	0.9360	M	0.86953	2.85	0.58432	D	0.999992	D	0.69078	0.997	P	0.62491	0.903	D	0.98288	1.0512	10	0.87932	D	0	.	11.7661	0.51930	0.0872:0.0:0.9128:0.0	.	450	O75197	LRP5_HUMAN	H	450	ENSP00000294304:R450H	ENSP00000294304:R450H	R	+	2	0	LRP5	67910693	1.000000	0.71417	1.000000	0.80357	0.920000	0.55202	9.248000	0.95456	1.028000	0.39785	0.455000	0.32223	CGC		0.701	LRP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395088.1	NM_002335		12	18	0	0	0	1	0	12	18					A	68154117	G	A	68154117	3	1	435	1	0	0	0	0	1	0	0	0	8960	1087	38	1	1371	1	LRP5	11	68154117	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	124838	68154117	66852399	5303	26228											
LRP5	4041	broad.mit.edu	37	chr11	68205926	68205926	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tctggcagaaatcaccaagcCgccctcagacgacagcccgg	11	4	10	16	3	3	2	2	0	1	2	3	3	3	2	4	2	2	1	4	2	2	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:68205926C>T	ENST00000294304.7	+	20	4230	c.4124C>T	c.(4123-4125)cCg>cTg	p.P1375L		NM_002335.2	NP_002326.2	O75197	LRP5_HUMAN	low density lipoprotein receptor-related protein 5	1375					adipose tissue development (GO:0060612)|anatomical structure regression (GO:0060033)|anterior/posterior pattern specification (GO:0009952)|apoptotic process involved in patterning of blood vessels (GO:1902262)|bone marrow development (GO:0048539)|bone morphogenesis (GO:0060349)|bone remodeling (GO:0046849)|branching involved in mammary gland duct morphogenesis (GO:0060444)|canonical Wnt signaling pathway (GO:0060070)|cell migration involved in gastrulation (GO:0042074)|cell-cell signaling involved in mammary gland development (GO:0060764)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic digit morphogenesis (GO:0042733)|embryonic limb morphogenesis (GO:0030326)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|endocytosis (GO:0006897)|extracellular matrix-cell signaling (GO:0035426)|gastrulation with mouth forming second (GO:0001702)|glucose catabolic process (GO:0006007)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|osteoblast development (GO:0002076)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of mitosis (GO:0045840)|positive regulation of osteoblast proliferation (GO:0033690)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of apoptotic process (GO:0042981)|regulation of blood pressure (GO:0008217)|regulation of bone remodeling (GO:0046850)|regulation of canonical Wnt signaling pathway (GO:0060828)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|response to peptide hormone (GO:0043434)|retina morphogenesis in camera-type eye (GO:0060042)|retinal blood vessel morphogenesis (GO:0061304)|somatic stem cell maintenance (GO:0035019)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway involved in dorsal/ventral axis specification (GO:0044332)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	coreceptor activity (GO:0015026)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						ATCACCAAGCCGCCCTCAGAC	0.592																																						ENST00000294304.7																			0				autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						c.(4123-4125)cCg>cTg		low density lipoprotein receptor-related protein 5							90	94	93					11																	68205926		2200	4294	6494	SO:0001583	missense	4041				adipose tissue development|bone marrow development|bone morphogenesis|canonical Wnt receptor signaling pathway|cholesterol homeostasis|endocytosis|glucose catabolic process|negative regulation of osteoblast differentiation|negative regulation of protein serine/threonine kinase activity|positive regulation of fat cell differentiation|positive regulation of mesenchymal cell proliferation|positive regulation of mitosis|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of canonical Wnt receptor signaling pathway|retina morphogenesis in camera-type eye|retinal blood vessel morphogenesis|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	endoplasmic reticulum|integral to membrane|plasma membrane|receptor complex	protein binding|receptor activity	g.chr11:68205926C>T	AF064548	CCDS8181.1	11q13.4	2014-01-28	2003-03-12		ENSG00000162337	ENSG00000162337		"Low density lipoprotein receptors"	6697	protein-coding gene	gene with protein product		603506	"osteoporosis pseudoglioma syndrome", "exudative vitreoretinopathy 1"	LRP7, OPPG, EVR1		9714764, 10049586	Standard	XM_005273994		Approved	LR3, BMND1, HBM, OPS, OPTA1, VBCH2, EVR4	uc001ont.3	O75197	OTTHUMG00000167570	ENST00000294304.7:c.4124C>T	11.37:g.68205926C>T	ENSP00000294304:p.Pro1375Leu						p.P1375L	NM_002335.2	NP_002326.2	O75197	LRP5_HUMAN			20	4230	+			1375					Q96TD6|Q9UES7|Q9UP66	Missense_Mutation	SNP	ENST00000294304.7	37	c.4124C>T	CCDS8181.1	.	.	.	.	.	.	.	.	.	.	C	11.27	1.588492	0.28357	.	.	ENSG00000162337	ENST00000294304	D	0.94046	-3.34	4.53	2.62	0.31277	.	0.129483	0.33217	N	0.005145	D	0.89570	0.6753	M	0.72353	2.195	0.46564	D	0.999102	B;B	0.26041	0.14;0.14	B;B	0.14023	0.01;0.01	T	0.81765	-0.0783	10	0.10636	T	0.68	.	9.9753	0.41779	0.0:0.8314:0.0:0.1686	.	1375;1375	Q9UES7;O75197	.;LRP5_HUMAN	L	1375	ENSP00000294304:P1375L	ENSP00000294304:P1375L	P	+	2	0	LRP5	67962502	0.987000	0.35691	0.556000	0.28293	0.085000	0.17905	2.856000	0.48341	0.528000	0.28580	0.585000	0.79938	CCG		0.592	LRP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395088.1	NM_002335		14	34	0	0	0	1	0	14	34					T	68205926	C	T	68205926	3	4	435	1	0	0	0	0	1	0	0	0	8960	652	23	2	4202	2	LRP5	11	68205926	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	51809	68205926	66800590	5304	26229											
GAL	51083	broad.mit.edu	37	chr11	68456356	68456356	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acctgaaaacaatatcatgcGcacaatcattgagtttctgt	14	12	6	9	1	3	2	2	2	1	0	3	2	3	2	1	0	2	2	1	0	5	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:68456356G>A	ENST00000265643.3	+	5	521	c.263G>A	c.(262-264)cGc>cAc	p.R88H		NM_015973.3	NP_057057.2	P22466	GALA_HUMAN	galanin/GMAP prepropeptide	88					cAMP-mediated signaling (GO:0019933)|feeding behavior (GO:0007631)|inflammatory response (GO:0006954)|insulin secretion (GO:0030073)|negative regulation of lymphocyte proliferation (GO:0050672)|negative regulation of root hair elongation (GO:1902891)|nervous system development (GO:0007399)|neuropeptide signaling pathway (GO:0007218)|positive regulation of apoptotic process (GO:0043065)|positive regulation of catagen (GO:0051795)|positive regulation of cortisol secretion (GO:0051464)|positive regulation of large conductance calcium-activated potassium channel activity (GO:1902608)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein kinase A signaling (GO:0010737)|regulation of glucocorticoid metabolic process (GO:0031943)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to insulin (GO:0032868)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|neuronal cell body (GO:0043025)|secretory granule (GO:0030141)	neuropeptide hormone activity (GO:0005184)|type 1 galanin receptor binding (GO:0031764)|type 2 galanin receptor binding (GO:0031765)|type 3 galanin receptor binding (GO:0031766)			lung(4)	4	Esophageal squamous(3;7.33e-10)	Melanoma(852;0.0749)	LUAD - Lung adenocarcinoma(13;0.0514)	Kidney(183;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(183;3.23e-08)|Lung(977;0.000152)|LUSC - Lung squamous cell carcinoma(976;0.00154)		AATATCATGCGCACAATCATT	0.403																																						ENST00000265643.3																			0				lung(4)	4						c.(262-264)cGc>cAc		galanin/GMAP prepropeptide							183	153	164					11																	68456356		2200	4294	6494	SO:0001583	missense	51083				growth hormone secretion|insulin secretion|neuropeptide signaling pathway|smooth muscle contraction	extracellular region	neuropeptide hormone activity	g.chr11:68456356G>A	L11144	CCDS8183.1	11q13.2	2013-02-26	2012-10-23		ENSG00000069482	ENSG00000069482		"Endogenous ligands"	4114	protein-coding gene	gene with protein product	"galanin-message-associated peptide", "galanin/GMAP prepropeptide"	137035	"galanin", "galanin prepropeptide"	GALN		7508413	Standard	XM_006718580		Approved	GMAP, GAL-GMAP, GLNN	uc001oob.3	P22466	OTTHUMG00000167890	ENST00000265643.3:c.263G>A	11.37:g.68456356G>A	ENSP00000265643:p.Arg88His						p.R88H	NM_015973.3	NP_057057.2	P22466	GALA_HUMAN	LUAD - Lung adenocarcinoma(13;0.0514)	Kidney(183;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(183;3.23e-08)|Lung(977;0.000152)|LUSC - Lung squamous cell carcinoma(976;0.00154)	5	521	+	Esophageal squamous(3;7.33e-10)	Melanoma(852;0.0749)	88					Q14413	Missense_Mutation	SNP	ENST00000265643.3	37	c.263G>A	CCDS8183.1	.	.	.	.	.	.	.	.	.	.	G	13.57	2.276468	0.40294	.	.	ENSG00000069482	ENST00000265643	T	0.52526	0.66	3.94	3.02	0.34903	Galanin message associated peptide (GMAP) (2);	0.060180	0.64402	D	0.000002	T	0.36054	0.0953	L	0.45581	1.43	0.25197	N	0.990083	B	0.25206	0.12	B	0.19666	0.026	T	0.18935	-1.0321	10	0.33141	T	0.24	-16.7377	7.8807	0.29621	0.1158:0.0:0.8842:0.0	.	88	P22466	GALA_HUMAN	H	88	ENSP00000265643:R88H	ENSP00000265643:R88H	R	+	2	0	GAL	68212932	0.987000	0.35691	0.382000	0.26119	0.062000	0.15995	1.746000	0.38288	0.996000	0.38943	0.655000	0.94253	CGC		0.403	GAL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396843.2	NM_001479		37	46	0	0	0	1	0	37	46					A	68456356	G	A	68456356	3	1	435	1	0	0	0	0	1	0	0	0	6196	1087	38	1	277	1	GAL	11	68456356	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	250430	68456356	66550160	5305	26230											
IGHMBP2	3508	broad.mit.edu	37	chr11	68678939	68678939	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcttcaacacctgcctggaCacctcccagaaagaagcggt	11	8	8	14	1	2	2	1	0	1	2	3	3	3	3	4	2	3	0	4	2	3	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:68678939C>T	ENST00000255078.3	+	5	690	c.579C>T	c.(577-579)gaC>gaT	p.D193D	IGHMBP2_ENST00000539224.1_Missense_Mutation_p.H161Y	NM_002180.2	NP_002171.2	P38935	SMBP2_HUMAN	immunoglobulin mu binding protein 2	193					ATP catabolic process (GO:0006200)|cell death (GO:0008219)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|protein homooligomerization (GO:0051260)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|translation (GO:0006412)	axon (GO:0030424)|cytoplasm (GO:0005737)|growth cone (GO:0030426)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|ATP-dependent 5'-3' DNA helicase activity (GO:0043141)|ATP-dependent 5'-3' RNA helicase activity (GO:0032575)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA-dependent ATPase activity (GO:0008094)|ribosome binding (GO:0043022)|RNA binding (GO:0003723)|RNA-dependent ATPase activity (GO:0008186)|single-stranded DNA binding (GO:0003697)|transcription factor binding (GO:0008134)|tRNA binding (GO:0000049)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|liver(1)|lung(15)|ovary(2)|prostate(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			CCTGCCTGGACACCTCCCAGA	0.547																																						ENST00000539224.1																			0				central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|liver(1)|lung(15)|ovary(2)|prostate(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(481-483)Cac>Tac		immunoglobulin mu binding protein 2							77	65	69					11																	68678939		2200	4294	6494	SO:0001819	synonymous_variant	3508				cell death|DNA recombination|DNA repair|DNA replication|protein homooligomerization|transcription, DNA-dependent|translation	axon|growth cone|nucleus|ribonucleoprotein complex	ATP binding|ATP-dependent 5'-3' DNA helicase activity|ATP-dependent 5'-3' RNA helicase activity|ribosome binding|single-stranded DNA binding|transcription factor binding|tRNA binding|zinc ion binding	g.chr11:68678939C>T	L14754	CCDS8187.1	11q13.3	2014-09-17			ENSG00000132740	ENSG00000132740		"Zinc fingers, AN1-type domain containing"	5542	protein-coding gene	gene with protein product	"cardiac transcription factor 1", "zinc finger, AN1-type domain 7"	600502				8349627	Standard	NM_002180		Approved	ZFAND7, SMUBP2, CATF1, SMARD1, HCSA, HMN6	uc001ook.1	P38935	OTTHUMG00000167894	ENST00000255078.3:c.579C>T	11.37:g.68678939C>T						IGHMBP2_ENST00000255078.3_Silent_p.D193D	p.H161Y			P38935	SMBP2_HUMAN	STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)		4	537	+			0					A0PJD2|Q00443|Q14177	Missense_Mutation	SNP	ENST00000255078.3	37	c.481C>T	CCDS8187.1	.	.	.	.	.	.	.	.	.	.	C	4.926	0.172120	0.09391	.	.	ENSG00000132740	ENST00000539224	T	0.64085	-0.08	4.93	-1.58	0.08479	.	.	.	.	.	T	0.61173	0.2326	.	.	.	0.22880	N	0.998619	.	.	.	.	.	.	T	0.58901	-0.7554	6	0.56958	D	0.05	-24.8877	11.2367	0.48944	0.0:0.4154:0.0:0.5846	.	.	.	.	Y	161	ENSP00000440465:H161Y	ENSP00000440465:H161Y	H	+	1	0	IGHMBP2	68435515	0.002000	0.14202	0.656000	0.29637	0.005000	0.04900	-0.053000	0.11846	-0.347000	0.08299	-1.670000	0.00746	CAC		0.547	IGHMBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396862.1	NM_002180		10	15	0	0	0	1	0	10	15					T	68678939	C	T	68678939	2	4	435	1	0	0	0	0	0	0	0	1	7591	477	17	3		3	IGHMBP2	11	68678939	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	222583	68678939	66327577	5306	26231											
ANO1	55107	broad.mit.edu	37	chr11	70007391	70007391	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtcacagtcacagccaccgCagtcatcatcaacctagtgg	11	7	9	14	1	5	0	5	0	0	0	5	0	5	0	3	2	2	1	3	2	2	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:70007391C>T	ENST00000355303.5	+	17	2008	c.1703C>T	c.(1702-1704)gCa>gTa	p.A568V	ANO1_ENST00000531349.1_Missense_Mutation_p.A277V|ANO1_ENST00000530676.1_Missense_Mutation_p.A422V|ANO1_ENST00000398543.2_Missense_Mutation_p.A422V|ANO1_ENST00000538023.1_Missense_Mutation_p.A568V|ANO1_ENST00000316296.5_Missense_Mutation_p.A510V	NM_018043.5	NP_060513.5	Q5XXA6	ANO1_HUMAN	anoctamin 1, calcium activated chloride channel	568					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|regulation of membrane potential (GO:0042391)|trachea development (GO:0060438)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|chloride channel complex (GO:0034707)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|intracellular calcium activated chloride channel activity (GO:0005229)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(12)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)	29					Crofelemer(DB04941)	ACAGCCACCGCAGTCATCATC	0.587																																						ENST00000355303.5																			0				central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(12)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)	29						c.(1702-1704)gCa>gTa		anoctamin 1, calcium activated chloride channel							104	108	107					11																	70007391		2181	4270	6451	SO:0001583	missense	55107				multicellular organismal development	chloride channel complex|cytoplasm|plasma membrane	intracellular calcium activated chloride channel activity	g.chr11:70007391C>T	BC033036	CCDS44663.1	11q13.2	2014-04-09	2008-08-28	2008-08-28	ENSG00000131620	ENSG00000131620		"Ion channels / Chloride channels : Calcium activated : Anoctamins"	21625	protein-coding gene	gene with protein product		610108	"oral cancer overexpressed 2", "transmembrane protein 16A"	ORAOV2, TMEM16A		15067359, 18724360, 24692353	Standard	NM_018043		Approved	TAOS2, FLJ10261, DOG1	uc001opj.3	Q5XXA6	OTTHUMG00000167204	ENST00000355303.5:c.1703C>T	11.37:g.70007391C>T	ENSP00000347454:p.Ala568Val					ANO1_ENST00000398543.2_Missense_Mutation_p.A422V|ANO1_ENST00000530676.1_Missense_Mutation_p.A422V|ANO1_ENST00000531349.1_Missense_Mutation_p.A277V|ANO1_ENST00000316296.5_Missense_Mutation_p.A510V|ANO1_ENST00000538023.1_Missense_Mutation_p.A568V	p.A568V	NM_018043.5	NP_060513.5	Q5XXA6	ANO1_HUMAN			17	2008	+			568					A8KAM3|Q8IYY8|Q8N7V3	Missense_Mutation	SNP	ENST00000355303.5	37	c.1703C>T	CCDS44663.1	.	.	.	.	.	.	.	.	.	.	C	19.80	3.895119	0.72639	.	.	ENSG00000131620	ENST00000355303;ENST00000538023;ENST00000398543;ENST00000546327;ENST00000316296;ENST00000530676;ENST00000531349;ENST00000531300	T;T;T;T;T;T;T	0.64803	-0.12;-0.12;-0.12;-0.12;-0.12;-0.12;-0.12	5.29	5.29	0.74685	.	0.058632	0.64402	D	0.000002	T	0.80025	0.4548	M	0.78223	2.4	0.80722	D	1	D;D;D	0.89917	0.996;1.0;0.999	D;D;D	0.74674	0.955;0.984;0.981	T	0.80656	-0.1285	9	.	.	.	.	18.9454	0.92620	0.0:1.0:0.0:0.0	.	277;510;568	E9PNA7;Q5XXA6-3;Q5XXA6	.;.;ANO1_HUMAN	V	568;568;422;326;510;422;277;119	ENSP00000347454:A568V;ENSP00000444689:A568V;ENSP00000381551:A422V;ENSP00000319477:A510V;ENSP00000435797:A422V;ENSP00000432843:A277V;ENSP00000435868:A119V	.	A	+	2	0	ANO1	69685039	1.000000	0.71417	0.156000	0.22583	0.044000	0.14063	7.575000	0.82447	2.460000	0.83146	0.655000	0.94253	GCA		0.587	ANO1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000393685.1	NM_018043		23	49	0	0	0	1	0	23	49					T	70007391	C	T	70007391	3	4	435	1	0	0	0	0	1	0	0	0	695	710	25	3	1769	3	ANO1	11	70007391	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	1328452	70007391	64999125	5307	26232											
ANO1	55107	broad.mit.edu	37	chr11	70009407	70009407	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggtttgttggacgcccgggCgactacgtgtacattttccg	6	12	13	10	5	0	0	0	0	0	0	1	2	1	1	2	3	2	3	2	3	2	6	rs377487688		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:70009407C>T	ENST00000355303.5	+	19	2216	c.1911C>T	c.(1909-1911)ggC>ggT	p.G637G	ANO1_ENST00000531349.1_Silent_p.G346G|ANO1_ENST00000530676.1_Silent_p.G491G|ANO1_ENST00000398543.2_Silent_p.G491G|ANO1_ENST00000538023.1_Silent_p.G637G|ANO1_ENST00000316296.5_Silent_p.G579G	NM_018043.5	NP_060513.5	Q5XXA6	ANO1_HUMAN	anoctamin 1, calcium activated chloride channel	637					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|regulation of membrane potential (GO:0042391)|trachea development (GO:0060438)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|chloride channel complex (GO:0034707)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|intracellular calcium activated chloride channel activity (GO:0005229)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(12)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)	29					Crofelemer(DB04941)	GACGCCCGGGCGACTACGTGT	0.527																																						ENST00000355303.5																			0				central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(12)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)	29						c.(1909-1911)ggC>ggT		anoctamin 1, calcium activated chloride channel		T		0,3874		0,0,1937	61	64	63		1911	-10.2	0.1	11		63	1,8251		0,1,4125	no	coding-synonymous	ANO1	NM_018043.5		0,1,6062	TT,TC,CC		0.0121,0.0,0.0082		637/987	70009407	1,12125	1937	4126	6063	SO:0001819	synonymous_variant	55107				multicellular organismal development	chloride channel complex|cytoplasm|plasma membrane	intracellular calcium activated chloride channel activity	g.chr11:70009407C>T	BC033036	CCDS44663.1	11q13.2	2014-04-09	2008-08-28	2008-08-28	ENSG00000131620	ENSG00000131620		"Ion channels / Chloride channels : Calcium activated : Anoctamins"	21625	protein-coding gene	gene with protein product		610108	"oral cancer overexpressed 2", "transmembrane protein 16A"	ORAOV2, TMEM16A		15067359, 18724360, 24692353	Standard	NM_018043		Approved	TAOS2, FLJ10261, DOG1	uc001opj.3	Q5XXA6	OTTHUMG00000167204	ENST00000355303.5:c.1911C>T	11.37:g.70009407C>T						ANO1_ENST00000398543.2_Silent_p.G491G|ANO1_ENST00000530676.1_Silent_p.G491G|ANO1_ENST00000531349.1_Silent_p.G346G|ANO1_ENST00000316296.5_Silent_p.G579G|ANO1_ENST00000538023.1_Silent_p.G637G	p.G637G	NM_018043.5	NP_060513.5	Q5XXA6	ANO1_HUMAN			19	2216	+			637					A8KAM3|Q8IYY8|Q8N7V3	Silent	SNP	ENST00000355303.5	37	c.1911C>T	CCDS44663.1																																																																																				0.527	ANO1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000393685.1	NM_018043		20	44	0	0	0	1	0	20	44					T	70009407	C	T	70009407	2	4	435	1	0	0	0	0	0	0	0	1	695	755	27	1		1	ANO1	11	70009407	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	2016	70009407	64997109	5308	26233											
ANO1	55107	broad.mit.edu	37	chr11	70031740	70031740	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggtcggaaaacaagtacgAcatctccaaggacttctggg	12	8	12	9	2	2	0	0	0	2	0	4	3	2	2	1	4	2	1	1	4	5	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:70031740A>G	ENST00000355303.5	+	25	2938	c.2633A>G	c.(2632-2634)gAc>gGc	p.D878G	ANO1_ENST00000531349.1_Missense_Mutation_p.D587G|ANO1_ENST00000530676.1_Missense_Mutation_p.D732G|ANO1_ENST00000525494.1_3'UTR|ANO1_ENST00000398543.2_Missense_Mutation_p.D732G|ANO1-AS1_ENST00000524987.1_RNA|ANO1_ENST00000538023.1_Missense_Mutation_p.D878G	NM_018043.5	NP_060513.5	Q5XXA6	ANO1_HUMAN	anoctamin 1, calcium activated chloride channel	878					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|regulation of membrane potential (GO:0042391)|trachea development (GO:0060438)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|chloride channel complex (GO:0034707)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|intracellular calcium activated chloride channel activity (GO:0005229)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(12)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)	29					Crofelemer(DB04941)	AACAAGTACGACATCTCCAAG	0.592																																						ENST00000355303.5																			0				central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(12)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)	29						c.(2632-2634)gAc>gGc		anoctamin 1, calcium activated chloride channel							104	116	112					11																	70031740		1947	4138	6085	SO:0001583	missense	55107				multicellular organismal development	chloride channel complex|cytoplasm|plasma membrane	intracellular calcium activated chloride channel activity	g.chr11:70031740A>G	BC033036	CCDS44663.1	11q13.2	2014-04-09	2008-08-28	2008-08-28	ENSG00000131620	ENSG00000131620		"Ion channels / Chloride channels : Calcium activated : Anoctamins"	21625	protein-coding gene	gene with protein product		610108	"oral cancer overexpressed 2", "transmembrane protein 16A"	ORAOV2, TMEM16A		15067359, 18724360, 24692353	Standard	NM_018043		Approved	TAOS2, FLJ10261, DOG1	uc001opj.3	Q5XXA6	OTTHUMG00000167204	ENST00000355303.5:c.2633A>G	11.37:g.70031740A>G	ENSP00000347454:p.Asp878Gly					ANO1_ENST00000398543.2_Missense_Mutation_p.D732G|ANO1_ENST00000530676.1_Missense_Mutation_p.D732G|ANO1_ENST00000525494.1_3'UTR|ANO1_ENST00000531349.1_Missense_Mutation_p.D587G|ANO1_ENST00000538023.1_Missense_Mutation_p.D878G	p.D878G	NM_018043.5	NP_060513.5	Q5XXA6	ANO1_HUMAN			25	2938	+			878					A8KAM3|Q8IYY8|Q8N7V3	Missense_Mutation	SNP	ENST00000355303.5	37	c.2633A>G	CCDS44663.1	.	.	.	.	.	.	.	.	.	.	A	16.33	3.092117	0.55968	.	.	ENSG00000131620	ENST00000355303;ENST00000538023;ENST00000398543;ENST00000546327;ENST00000530676;ENST00000531349;ENST00000539321	T;T;T;T;T	0.70631	-0.05;-0.15;-0.5;-0.5;-0.19	5.27	5.27	0.74061	.	0.156962	0.56097	D	0.000035	T	0.60907	0.2305	N	0.20401	0.57	0.53688	D	0.999978	B;P	0.42161	0.242;0.772	B;B	0.44044	0.232;0.439	T	0.60234	-0.7303	9	.	.	.	.	15.1903	0.73038	1.0:0.0:0.0:0.0	.	587;878	E9PNA7;Q5XXA6	.;ANO1_HUMAN	G	878;878;732;636;732;587;205	ENSP00000347454:D878G;ENSP00000444689:D878G;ENSP00000381551:D732G;ENSP00000435797:D732G;ENSP00000432843:D587G	.	D	+	2	0	ANO1	69709388	1.000000	0.71417	0.997000	0.53966	0.967000	0.64934	6.637000	0.74304	1.990000	0.58119	0.533000	0.62120	GAC		0.592	ANO1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000393685.1	NM_018043		6	31	0	0	0	1	0	6	31					G	70031740	A	G	70031740	3	3	435	1	0	0	0	0	1	0	0	0	695	275	10	4	2731	4	ANO1	11	70031740	Missense_Mutation	SNP	A	TCGA-XK-AAIW-01A-11D-A41K-08	22333	70031740	64974776	5309	26234											
CTTN	2017	broad.mit.edu	37	chr11	70265948	70265948	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaaggcaaaacggagaagcAcgagtcccagaaaggtgtct	15	5	12	9	2	2	2	1	0	1	2	3	4	3	2	1	3	2	2	1	3	5	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:70265948A>G	ENST00000301843.8	+	9	871	c.665A>G	c.(664-666)cAc>cGc	p.H222R	CTTN_ENST00000346329.3_Missense_Mutation_p.H222R|CTTN_ENST00000538675.1_5'Flank|CTTN_ENST00000376561.3_Missense_Mutation_p.H222R	NM_005231.3	NP_005222.2	Q14247	SRC8_HUMAN	cortactin	222					negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|mitotic spindle midzone (GO:1990023)|ruffle (GO:0001726)				breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	31			BRCA - Breast invasive adenocarcinoma(2;4.34e-41)|LUSC - Lung squamous cell carcinoma(11;1.51e-13)|STAD - Stomach adenocarcinoma(18;0.0513)	Lung(977;0.0234)|LUSC - Lung squamous cell carcinoma(976;0.133)		ACGGAGAAGCACGAGTCCCAG	0.478																																						ENST00000346329.3																			0				breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	31						c.(664-666)cAc>cGc		cortactin							85	72	76					11																	70265948		2200	4294	6494	SO:0001583	missense	2017					cell cortex|cytoskeleton|lamellipodium|ruffle|soluble fraction	protein binding	g.chr11:70265948A>G	AJ288897	CCDS8197.1, CCDS41680.1, CCDS53676.1	11q13	2008-02-05	2004-06-08	2004-06-09	ENSG00000085733	ENSG00000085733			3338	protein-coding gene	gene with protein product		164765	"ems1 sequence (mammary tumor and squamous cell carcinoma-associated (p80/85 src substrate)"	EMS1		7685625	Standard	NM_005231		Approved		uc001opu.3	Q14247	OTTHUMG00000134307	ENST00000301843.8:c.665A>G	11.37:g.70265948A>G	ENSP00000301843:p.His222Arg					CTTN_ENST00000301843.8_Missense_Mutation_p.H222R|CTTN_ENST00000376561.3_Missense_Mutation_p.H222R	p.H222R	NM_138565.2	NP_612632.1	Q14247	SRC8_HUMAN	BRCA - Breast invasive adenocarcinoma(2;4.34e-41)|LUSC - Lung squamous cell carcinoma(11;1.51e-13)|STAD - Stomach adenocarcinoma(18;0.0513)	Lung(977;0.0234)|LUSC - Lung squamous cell carcinoma(976;0.133)	9	973	+			222					Q8N707|Q96H99	Missense_Mutation	SNP	ENST00000301843.8	37	c.665A>G	CCDS41680.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.8|24.8	4.569536|4.569536	0.86439|0.86439	.|.	.|.	ENSG00000085733|ENSG00000085733	ENST00000346329;ENST00000301843;ENST00000376561|ENST00000415461	T;T;T|.	0.66280|.	0.85;-0.2;0.81|.	5.01|5.01	5.01|5.01	0.66863|0.66863	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.84215|0.84215	0.5423|0.5423	M|M	0.92026|0.92026	3.265|3.265	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	1.0;1.0;1.0|.	D;D;D|.	0.91635|.	0.999;0.992;0.999|.	D|D	0.88153|0.88153	0.2852|0.2852	10|5	0.62326|.	D|.	0.03|.	-41.5496|-41.5496	15.0742|15.0742	0.72063|0.72063	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	222;222;222|.	Q96H99;Q14247;Q8N707|.	.;SRC8_HUMAN;.|.	R|A	222|204	ENSP00000317189:H222R;ENSP00000301843:H222R;ENSP00000365745:H222R|.	ENSP00000301843:H222R|.	H|T	+|+	2|1	0|0	CTTN|CTTN	69943596|69943596	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.813000|0.813000	0.45954|0.45954	8.360000|8.360000	0.90095|0.90095	2.018000|2.018000	0.59344|0.59344	0.533000|0.533000	0.62120|0.62120	CAC|ACG		0.478	CTTN-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259233.2	NM_138565		12	17	0	0	0	1	0	12	17					G	70265948	A	G	70265948	3	3	435	1	0	0	0	0	1	0	0	0	4044	159	6	4	691	4	CTTN	11	70265948	Missense_Mutation	SNP	A	TCGA-XK-AAIW-01A-11D-A41K-08	234208	70265948	64740568	5310	26235											
SHANK2	22941	broad.mit.edu	37	chr11	70331557	70331557	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctttgggcctgagagaatcGggcttttgatctctgtgacg	6	13	13	9	2	1	4	0	3	1	1	3	5	1	4	2	2	0	1	2	2	1	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:70331557G>A	ENST00000423696.2	-	15	3740	c.3704C>T	c.(3703-3705)cCg>cTg	p.P1235L	SHANK2_ENST00000409161.1_Missense_Mutation_p.P1018L|SHANK2_ENST00000338508.4_Missense_Mutation_p.P1615L|SHANK2_ENST00000449833.2_Missense_Mutation_p.P1019L			Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2	1235					adult behavior (GO:0030534)|learning (GO:0007612)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|vocalization behavior (GO:0071625)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|cell junction (GO:0030054)|ciliary membrane (GO:0060170)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|growth cone (GO:0030426)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	GKAP/Homer scaffold activity (GO:0030160)|ionotropic glutamate receptor binding (GO:0035255)			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			TGAGAGAATCGGGCTTTTGAT	0.567																																						ENST00000338508.4																			0				NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62						c.(4843-4845)cCg>cTg		SH3 and multiple ankyrin repeat domains 2							88	91	90					11																	70331557		2200	4294	6494	SO:0001583	missense	22941				intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding	g.chr11:70331557G>A	AF141901		11q13.2	2013-01-10			ENSG00000162105	ENSG00000162105		"Sterile alpha motif (SAM) domain containing", "Ankyrin repeat domain containing"	14295	protein-coding gene	gene with protein product		603290	"cortactin binding protein 1"	CORTBP1		10506216	Standard	XM_005277930		Approved	CTTNBP1, ProSAP1, SHANK, SPANK-3	uc001oqc.3	Q9UPX8	OTTHUMG00000154615	ENST00000423696.2:c.3704C>T	11.37:g.70331557G>A	ENSP00000394536:p.Pro1235Leu					SHANK2_ENST00000423696.2_Missense_Mutation_p.P1235L|SHANK2_ENST00000449833.2_Missense_Mutation_p.P1019L|SHANK2_ENST00000409161.1_Missense_Mutation_p.P1018L	p.P1615L			Q9UPX8	SHAN2_HUMAN	LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)		32	4843	-			1235					C0SPG8|C0SPG9|Q3Y8G9|Q52LK2|Q9UKP1	Missense_Mutation	SNP	ENST00000423696.2	37	c.4844C>T		.	.	.	.	.	.	.	.	.	.	G	18.41	3.618447	0.66787	.	.	ENSG00000162105	ENST00000449833;ENST00000409161;ENST00000424924;ENST00000338508;ENST00000423696;ENST00000433693;ENST00000294018	T;T;T;T;T;T	0.48201	2.11;2.11;2.84;0.82;2.24;2.26	5.66	5.66	0.87406	.	3.850650	0.00531	N	0.000212	T	0.53318	0.1789	M	0.76002	2.32	0.80722	D	1	P;P;P	0.50617	0.782;0.937;0.684	B;B;B	0.37091	0.104;0.241;0.132	T	0.65154	-0.6237	10	0.07990	T	0.79	.	19.756	0.96291	0.0:0.0:1.0:0.0	.	1235;1614;1019	Q9UPX8;Q9UPX8-3;Q9UPX8-4	SHAN2_HUMAN;.;.	L	1019;1018;893;1615;1235;1253;1238	ENSP00000399423:P1019L;ENSP00000386491:P1018L;ENSP00000402944:P893L;ENSP00000345193:P1615L;ENSP00000394536:P1235L;ENSP00000294018:P1238L	ENSP00000294018:P1238L	P	-	2	0	SHANK2	70009205	1.000000	0.71417	0.997000	0.53966	0.994000	0.84299	6.785000	0.75089	2.665000	0.90641	0.655000	0.94253	CCG		0.567	SHANK2-203	KNOWN	basic	protein_coding	protein_coding		NM_012309		38	55	0	0	0	1	0	38	55					A	70331557	G	A	70331557	3	1	435	1	0	0	0	0	1	0	0	0	14265	1116	39	2	716	2	SHANK2	11	70331557	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	65609	70331557	64674959	5311	26236											
SHANK2	22941	broad.mit.edu	37	chr11	70332444	70332444	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tccagcttagtggcgtccacGgtgtgcaccatcagcaggcc	7	8	12	14	2	1	0	1	0	0	0	3	0	3	0	4	3	3	3	4	3	1	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:70332444G>A	ENST00000423696.2	-	15	2853	c.2817C>T	c.(2815-2817)acC>acT	p.T939T	SHANK2_ENST00000409161.1_Silent_p.T722T|SHANK2_ENST00000338508.4_Silent_p.T1319T|SHANK2_ENST00000449833.2_Silent_p.T723T			Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2	939					adult behavior (GO:0030534)|learning (GO:0007612)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|vocalization behavior (GO:0071625)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|cell junction (GO:0030054)|ciliary membrane (GO:0060170)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|growth cone (GO:0030426)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	GKAP/Homer scaffold activity (GO:0030160)|ionotropic glutamate receptor binding (GO:0035255)			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			TGGCGTCCACGGTGTGCACCA	0.602																																						ENST00000338508.4																			0				NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62						c.(3955-3957)acC>acT		SH3 and multiple ankyrin repeat domains 2							122	107	112					11																	70332444		2200	4294	6494	SO:0001819	synonymous_variant	22941				intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding	g.chr11:70332444G>A	AF141901		11q13.2	2013-01-10			ENSG00000162105	ENSG00000162105		"Sterile alpha motif (SAM) domain containing", "Ankyrin repeat domain containing"	14295	protein-coding gene	gene with protein product		603290	"cortactin binding protein 1"	CORTBP1		10506216	Standard	XM_005277930		Approved	CTTNBP1, ProSAP1, SHANK, SPANK-3	uc001oqc.3	Q9UPX8	OTTHUMG00000154615	ENST00000423696.2:c.2817C>T	11.37:g.70332444G>A						SHANK2_ENST00000423696.2_Silent_p.T939T|SHANK2_ENST00000449833.2_Silent_p.T723T|SHANK2_ENST00000409161.1_Silent_p.T722T	p.T1319T			Q9UPX8	SHAN2_HUMAN	LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)		32	3956	-			939					C0SPG8|C0SPG9|Q3Y8G9|Q52LK2|Q9UKP1	Silent	SNP	ENST00000423696.2	37	c.3957C>T																																																																																					0.602	SHANK2-203	KNOWN	basic	protein_coding	protein_coding		NM_012309		15	24	0	0	0	1	0	15	24					A	70332444	G	A	70332444	2	1	435	1	0	0	0	0	0	0	0	1	14265	1103	39	2		2	SHANK2	11	70332444	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	887	70332444	64674072	5312	26237											
SHANK2	22941	broad.mit.edu	37	chr11	70333321	70333321	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgggatagggatggagcacGtcttctcggggctgtcctcc	5	10	15	11	3	2	0	0	0	2	0	6	3	4	3	2	5	1	2	2	5	1	2	rs377120070		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:70333321G>A	ENST00000423696.2	-	15	1976	c.1940C>T	c.(1939-1941)aCg>aTg	p.T647M	SHANK2_ENST00000409161.1_Missense_Mutation_p.T430M|SHANK2_ENST00000338508.4_Missense_Mutation_p.T1027M|SHANK2_ENST00000449833.2_Missense_Mutation_p.T431M			Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2	647					adult behavior (GO:0030534)|learning (GO:0007612)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|vocalization behavior (GO:0071625)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|cell junction (GO:0030054)|ciliary membrane (GO:0060170)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|growth cone (GO:0030426)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	GKAP/Homer scaffold activity (GO:0030160)|ionotropic glutamate receptor binding (GO:0035255)			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			GATGGAGCACGTCTTCTCGGG	0.652																																						ENST00000338508.4																			0				NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62						c.(3079-3081)aCg>aTg		SH3 and multiple ankyrin repeat domains 2		G	MET/THR,MET/THR	0,4400		0,0,2200	110	108	109		2931,1313	4.9	1	11		109	1,8587	1.2+/-3.3	0,1,4293	no	missense,missense	SHANK2	NM_012309.3,NM_133266.3	81,81	0,1,6493	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging	1026/1850,438/1262	70333321	1,12987	2200	4294	6494	SO:0001583	missense	22941				intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding	g.chr11:70333321G>A	AF141901		11q13.2	2013-01-10			ENSG00000162105	ENSG00000162105		"Sterile alpha motif (SAM) domain containing", "Ankyrin repeat domain containing"	14295	protein-coding gene	gene with protein product		603290	"cortactin binding protein 1"	CORTBP1		10506216	Standard	XM_005277930		Approved	CTTNBP1, ProSAP1, SHANK, SPANK-3	uc001oqc.3	Q9UPX8	OTTHUMG00000154615	ENST00000423696.2:c.1940C>T	11.37:g.70333321G>A	ENSP00000394536:p.Thr647Met					SHANK2_ENST00000423696.2_Missense_Mutation_p.T647M|SHANK2_ENST00000449833.2_Missense_Mutation_p.T431M|SHANK2_ENST00000409161.1_Missense_Mutation_p.T430M	p.T1027M			Q9UPX8	SHAN2_HUMAN	LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)		32	3079	-			647					C0SPG8|C0SPG9|Q3Y8G9|Q52LK2|Q9UKP1	Missense_Mutation	SNP	ENST00000423696.2	37	c.3080C>T		.	.	.	.	.	.	.	.	.	.	G	16.36	3.101883	0.56183	0.0	1.16E-4	ENSG00000162105	ENST00000449833;ENST00000409161;ENST00000424924;ENST00000338508;ENST00000423696;ENST00000433693;ENST00000294018	T;T;T;T;T;T	0.42131	2.28;2.28;2.98;0.98;2.37;2.39	4.87	4.87	0.63330	.	0.171605	0.49916	D	0.000127	T	0.60547	0.2277	M	0.73598	2.24	0.80722	D	1	D;D;D	0.67145	0.996;0.995;0.982	P;D;P	0.64042	0.84;0.921;0.868	T	0.63950	-0.6521	10	0.56958	D	0.05	.	12.4635	0.55745	0.0812:0.0:0.9188:0.0	.	647;1026;431	Q9UPX8;Q9UPX8-3;Q9UPX8-4	SHAN2_HUMAN;.;.	M	431;430;305;1027;647;665;650	ENSP00000399423:T431M;ENSP00000386491:T430M;ENSP00000402944:T305M;ENSP00000345193:T1027M;ENSP00000394536:T647M;ENSP00000294018:T650M	ENSP00000294018:T650M	T	-	2	0	SHANK2	70010969	1.000000	0.71417	0.998000	0.56505	0.953000	0.61014	5.147000	0.64851	2.271000	0.75665	0.561000	0.74099	ACG		0.652	SHANK2-203	KNOWN	basic	protein_coding	protein_coding		NM_012309		37	52	0	0	0	1	0	37	52					A	70333321	G	A	70333321	3	1	435	1	0	0	0	0	1	0	0	0	14265	1145	40	1	2480	1	SHANK2	11	70333321	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	877	70333321	64673195	5313	26238											
SHANK2	22941	broad.mit.edu	37	chr11	70333465	70333465	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcatctggcctctcttgttgCggaagttggcttgcgggccg	3	12	15	11	3	2	0	0	0	2	0	3	1	2	1	2	4	2	4	2	4	1	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:70333465C>T	ENST00000423696.2	-	15	1832	c.1796G>A	c.(1795-1797)cGc>cAc	p.R599H	SHANK2_ENST00000409161.1_Missense_Mutation_p.R382H|SHANK2_ENST00000338508.4_Missense_Mutation_p.R979H|SHANK2_ENST00000449833.2_Missense_Mutation_p.R383H			Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2	599					adult behavior (GO:0030534)|learning (GO:0007612)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|vocalization behavior (GO:0071625)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|cell junction (GO:0030054)|ciliary membrane (GO:0060170)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|growth cone (GO:0030426)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	GKAP/Homer scaffold activity (GO:0030160)|ionotropic glutamate receptor binding (GO:0035255)			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			TCTCTTGTTGCGGAAGTTGGC	0.597																																						ENST00000338508.4																			0				NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62						c.(2935-2937)cGc>cAc		SH3 and multiple ankyrin repeat domains 2							112	116	115					11																	70333465		2200	4294	6494	SO:0001583	missense	22941				intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding	g.chr11:70333465C>T	AF141901		11q13.2	2013-01-10			ENSG00000162105	ENSG00000162105		"Sterile alpha motif (SAM) domain containing", "Ankyrin repeat domain containing"	14295	protein-coding gene	gene with protein product		603290	"cortactin binding protein 1"	CORTBP1		10506216	Standard	XM_005277930		Approved	CTTNBP1, ProSAP1, SHANK, SPANK-3	uc001oqc.3	Q9UPX8	OTTHUMG00000154615	ENST00000423696.2:c.1796G>A	11.37:g.70333465C>T	ENSP00000394536:p.Arg599His					SHANK2_ENST00000423696.2_Missense_Mutation_p.R599H|SHANK2_ENST00000449833.2_Missense_Mutation_p.R383H|SHANK2_ENST00000409161.1_Missense_Mutation_p.R382H	p.R979H			Q9UPX8	SHAN2_HUMAN	LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)		32	2935	-			599					C0SPG8|C0SPG9|Q3Y8G9|Q52LK2|Q9UKP1	Missense_Mutation	SNP	ENST00000423696.2	37	c.2936G>A		.	.	.	.	.	.	.	.	.	.	C	15.03	2.713517	0.48517	.	.	ENSG00000162105	ENST00000449833;ENST00000409161;ENST00000424924;ENST00000338508;ENST00000423696;ENST00000433693;ENST00000294018	T;T;T;T;T;T	0.42900	2.23;2.23;2.95;0.96;2.37;2.38	4.85	4.85	0.62838	.	0.396381	0.27139	N	0.020747	T	0.36580	0.0972	L	0.45352	1.415	0.80722	D	1	B;B;B	0.24317	0.028;0.101;0.021	B;B;B	0.21546	0.013;0.024;0.035	T	0.24835	-1.0149	10	0.56958	D	0.05	.	13.0188	0.58773	0.1611:0.8389:0.0:0.0	.	599;978;383	Q9UPX8;Q9UPX8-3;Q9UPX8-4	SHAN2_HUMAN;.;.	H	383;382;257;979;599;617;602	ENSP00000399423:R383H;ENSP00000386491:R382H;ENSP00000402944:R257H;ENSP00000345193:R979H;ENSP00000394536:R599H;ENSP00000294018:R602H	ENSP00000294018:R602H	R	-	2	0	SHANK2	70011113	0.998000	0.40836	0.982000	0.44146	0.203000	0.24098	2.532000	0.45659	2.250000	0.74265	0.655000	0.94253	CGC		0.597	SHANK2-203	KNOWN	basic	protein_coding	protein_coding		NM_012309		42	55	0	0	0	1	0	42	55					T	70333465	C	T	70333465	3	4	435	1	0	0	0	0	1	0	0	0	14265	768	27	1	2624	1	SHANK2	11	70333465	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	144	70333465	64673051	5314	26239											
SHANK2	22941	broad.mit.edu	37	chr11	70338440	70338440	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cccaaggtacggccactcacGttcatgtctgagcccgccgg	7	7	11	16	4	3	1	2	1	1	0	3	1	3	1	4	3	2	2	4	3	2	2	rs370602260		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:70338440G>A	ENST00000423696.2	-	12	1338	c.1302C>T	c.(1300-1302)aaC>aaT	p.N434N	SHANK2_ENST00000409161.1_Splice_Site_p.N217N|SHANK2_ENST00000409530.1_Splice_Site_p.N224N|SHANK2_ENST00000338508.4_Splice_Site_p.N814N|SHANK2_ENST00000357171.3_Splice_Site_p.N225N|SHANK2_ENST00000449116.2_Splice_Site_p.N215N|SHANK2_ENST00000449833.2_Splice_Site_p.N218N			Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2	434					adult behavior (GO:0030534)|learning (GO:0007612)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|vocalization behavior (GO:0071625)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|cell junction (GO:0030054)|ciliary membrane (GO:0060170)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|growth cone (GO:0030426)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	GKAP/Homer scaffold activity (GO:0030160)|ionotropic glutamate receptor binding (GO:0035255)			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			GGCCACTCACGTTCATGTCTG	0.662																																						ENST00000338508.4																			0				NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62						c.e29+1		SH3 and multiple ankyrin repeat domains 2		G	,	0,4398		0,0,2199	29	30	30		2293,675	-4	1	11		30	1,8583		0,1,4291	no	coding-synonymous-near-splice,coding-synonymous-near-splice	SHANK2	NM_012309.3,NM_133266.3	,	0,1,6490	AA,AG,GG		0.0116,0.0,0.0077	,	813/1850,225/1262	70338440	1,12981	2199	4292	6491	SO:0001630	splice_region_variant	22941				intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding	g.chr11:70338440G>A	AF141901		11q13.2	2013-01-10			ENSG00000162105	ENSG00000162105		"Sterile alpha motif (SAM) domain containing", "Ankyrin repeat domain containing"	14295	protein-coding gene	gene with protein product		603290	"cortactin binding protein 1"	CORTBP1		10506216	Standard	XM_005277930		Approved	CTTNBP1, ProSAP1, SHANK, SPANK-3	uc001oqc.3	Q9UPX8	OTTHUMG00000154615	ENST00000423696.2:c.1302+1C>T	11.37:g.70338440G>A						SHANK2_ENST00000449116.2_Splice_Site_p.N215_splice|SHANK2_ENST00000423696.2_Splice_Site_p.N434_splice|SHANK2_ENST00000449833.2_Splice_Site_p.N218_splice|SHANK2_ENST00000409530.1_Splice_Site_p.N224_splice|SHANK2_ENST00000357171.3_Splice_Site_p.N225_splice|SHANK2_ENST00000409161.1_Splice_Site_p.N217_splice	p.N814_splice			Q9UPX8	SHAN2_HUMAN	LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)		29	2441	-			434					C0SPG8|C0SPG9|Q3Y8G9|Q52LK2|Q9UKP1	Splice_Site	SNP	ENST00000423696.2	37	c.2442_splice		.	.	.	.	.	.	.	.	.	.	G	3.449	-0.112403	0.06881	0.0	1.16E-4	ENSG00000162105	ENST00000412252	.	.	.	4.53	-4.01	0.04045	.	.	.	.	.	T	0.61527	0.2354	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.60480	-0.7255	4	.	.	.	.	12.6144	0.56567	0.801:0.0:0.199:0.0	.	.	.	.	F	224	.	.	L	-	1	0	SHANK2	70016088	0.997000	0.39634	0.957000	0.39632	0.281000	0.26958	0.529000	0.23019	-0.747000	0.04759	0.650000	0.86243	CTC		0.662	SHANK2-203	KNOWN	basic	protein_coding	protein_coding		NM_012309	Silent	10	14	0	0	0	1	0	10	14					A	70338440	G	A	70338440	5	1	435	1	0	0	0	0	0	0	1	0	14265	1159	40	1	3130	1	SHANK2	11	70338440	Splice_Site	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	4975	70338440	64668076	5315	26240											
DHCR7	1717	broad.mit.edu	37	chr11	71146658	71146658	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgggccacgccccagaagccCgacaccagcagcttgctgtg	8	4	12	17	3	0	1	0	0	0	1	0	2	0	1	5	1	4	3	5	1	1	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:71146658C>T	ENST00000355527.3	-	9	1467	c.1191G>A	c.(1189-1191)tcG>tcA	p.S397S	DHCR7_ENST00000407721.2_Silent_p.S397S	NM_001163817.1|NM_001360.2	NP_001157289.1|NP_001351.2	Q9UBM7	DHCR7_HUMAN	7-dehydrocholesterol reductase	397			S -> L (in SLOS). {ECO:0000269|PubMed:10677299}.		blood vessel development (GO:0001568)|cell differentiation (GO:0030154)|cholesterol biosynthetic process (GO:0006695)|lung development (GO:0030324)|multicellular organism growth (GO:0035264)|post-embryonic development (GO:0009791)|regulation of cell proliferation (GO:0042127)|regulation of cholesterol biosynthetic process (GO:0045540)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear outer membrane (GO:0005640)	7-dehydrocholesterol reductase activity (GO:0047598)			endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(1)|skin(1)	19						CCCAGAAGCCCGACACCAGCA	0.672									Smith-Lemli-Opitz syndrome																													ENST00000355527.3																			0				endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(1)|skin(1)	19						c.(1189-1191)tcG>tcA		7-dehydrocholesterol reductase	NADH(DB00157)						21	22	22					11																	71146658		2198	4288	6486	SO:0001819	synonymous_variant	1717	Smith-Lemli-Opitz syndrome	Familial Cancer Database	SLOS type I & II	cholesterol biosynthetic process	endoplasmic reticulum membrane|integral to membrane|nuclear outer membrane	7-dehydrocholesterol reductase activity|protein binding	g.chr11:71146658C>T	AF034544	CCDS8200.1	11q13.4	2014-09-17	2004-02-13				1.3.1.21		2860	protein-coding gene	gene with protein product		602858	"Smith-Lemli-Opitz syndrome"	SLOS		9465114, 9634533	Standard	NM_001360		Approved		uc001oql.3	Q9UBM7		ENST00000355527.3:c.1191G>A	11.37:g.71146658C>T						DHCR7_ENST00000407721.2_Silent_p.S397S	p.S397S	NM_001163817.1|NM_001360.2	NP_001157289.1|NP_001351.2	Q9UBM7	DHCR7_HUMAN			9	1467	-			397		S -> L (in SLOS).			B2R6Z2|O60492|O60717	Silent	SNP	ENST00000355527.3	37	c.1191G>A	CCDS8200.1	.	.	.	.	.	.	.	.	.	.	C	10.42	1.345742	0.24426	.	.	ENSG00000172893	ENST00000525137	D	0.99409	-5.85	5.12	-7.5	0.01351	.	.	.	.	.	D	0.98305	0.9438	.	.	.	0.80722	D	1	.	.	.	.	.	.	D	0.93273	0.6653	6	0.31617	T	0.26	-20.9536	9.3694	0.38246	0.0:0.3076:0.436:0.2564	.	.	.	.	Q	231	ENSP00000435956:R231Q	ENSP00000435956:R231Q	R	-	2	0	DHCR7	70824306	0.000000	0.05858	0.349000	0.25694	0.890000	0.51754	-5.671000	0.00105	-2.287000	0.00669	-2.319000	0.00253	CGG		0.672	DHCR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394243.1	NM_001360		8	9	0	0	0	1	0	8	9					T	71146658	C	T	71146658	2	4	435	1	0	0	0	0	0	0	0	1	4477	639	23	2		2	DHCR7	11	71146658	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	808218	71146658	63859858	5316	26241											
DHCR7	1717	broad.mit.edu	37	chr11	71155238	71155238	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagtaggaagatgacgctcGccagtgaaaaccagtccacc	13	5	11	12	2	0	3	0	2	0	1	2	4	1	4	4	1	1	3	4	1	4	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:71155238G>A	ENST00000355527.3	-	4	398	c.122C>T	c.(121-123)gCg>gTg	p.A41V	DHCR7_ENST00000407721.2_Missense_Mutation_p.A41V	NM_001163817.1|NM_001360.2	NP_001157289.1|NP_001351.2	Q9UBM7	DHCR7_HUMAN	7-dehydrocholesterol reductase	41					blood vessel development (GO:0001568)|cell differentiation (GO:0030154)|cholesterol biosynthetic process (GO:0006695)|lung development (GO:0030324)|multicellular organism growth (GO:0035264)|post-embryonic development (GO:0009791)|regulation of cell proliferation (GO:0042127)|regulation of cholesterol biosynthetic process (GO:0045540)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear outer membrane (GO:0005640)	7-dehydrocholesterol reductase activity (GO:0047598)			endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(1)|skin(1)	19						GATGACGCTCGCCAGTGAAAA	0.607									Smith-Lemli-Opitz syndrome																													ENST00000355527.3																			0				endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(1)|skin(1)	19						c.(121-123)gCg>gTg		7-dehydrocholesterol reductase	NADH(DB00157)						48	40	43					11																	71155238		2200	4294	6494	SO:0001583	missense	1717	Smith-Lemli-Opitz syndrome	Familial Cancer Database	SLOS type I & II	cholesterol biosynthetic process	endoplasmic reticulum membrane|integral to membrane|nuclear outer membrane	7-dehydrocholesterol reductase activity|protein binding	g.chr11:71155238G>A	AF034544	CCDS8200.1	11q13.4	2014-09-17	2004-02-13				1.3.1.21		2860	protein-coding gene	gene with protein product		602858	"Smith-Lemli-Opitz syndrome"	SLOS		9465114, 9634533	Standard	NM_001360		Approved		uc001oql.3	Q9UBM7		ENST00000355527.3:c.122C>T	11.37:g.71155238G>A	ENSP00000347717:p.Ala41Val					DHCR7_ENST00000407721.2_Missense_Mutation_p.A41V	p.A41V	NM_001163817.1|NM_001360.2	NP_001157289.1|NP_001351.2	Q9UBM7	DHCR7_HUMAN			4	398	-			41					B2R6Z2|O60492|O60717	Missense_Mutation	SNP	ENST00000355527.3	37	c.122C>T	CCDS8200.1	.	.	.	.	.	.	.	.	.	.	G	1.486	-0.556013	0.03967	.	.	ENSG00000172893	ENST00000407721;ENST00000355527;ENST00000524694;ENST00000526780;ENST00000525346;ENST00000531364;ENST00000529990;ENST00000527452	D;D;D;D;D;D;D	0.97620	-4.46;-4.46;-3.8;-2.81;-2.71;-3.08;-2.47	4.63	-0.813	0.10850	.	0.532611	0.20739	N	0.086573	D	0.89269	0.6667	N	0.13235	0.315	0.19575	N	0.999962	B	0.14805	0.011	B	0.12156	0.007	T	0.77902	-0.2414	10	0.07482	T	0.82	-9.0159	7.5914	0.28023	0.217:0.2229:0.5601:0.0	.	41	Q9UBM7	DHCR7_HUMAN	V	41;41;41;41;41;41;21;41	ENSP00000384739:A41V;ENSP00000347717:A41V;ENSP00000435668:A41V;ENSP00000435707:A41V;ENSP00000432589:A41V;ENSP00000435058:A21V;ENSP00000436007:A41V	ENSP00000347717:A41V	A	-	2	0	DHCR7	70832886	0.657000	0.27393	0.006000	0.13384	0.001000	0.01503	1.226000	0.32563	-0.730000	0.04869	-2.498000	0.00192	GCG		0.607	DHCR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394243.1	NM_001360		4	4	0	0	0	1	0	4	4					A	71155238	G	A	71155238	3	1	435	1	0	0	0	0	1	0	0	0	4477	1087	38	1	1329	1	DHCR7	11	71155238	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	8580	71155238	63851278	5317	26242											
NADSYN1	55191	broad.mit.edu	37	chr11	71169582	71169582	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actcaggacatcatctgcgaCgtggggatgtaagtgccagt	10	9	13	9	2	3	0	2	0	1	0	3	3	3	2	1	3	2	1	1	3	1	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:71169582C>T	ENST00000319023.2	+	3	443	c.255C>T	c.(253-255)gaC>gaT	p.D85D		NM_018161.4	NP_060631.2	Q6IA69	NADE_HUMAN	NAD synthetase 1	85	CN hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00054}.				NAD biosynthetic process (GO:0009435)|NAD metabolic process (GO:0019674)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds (GO:0016810)|NAD+ synthase (glutamine-hydrolyzing) activity (GO:0003952)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	25					L-Glutamine(DB00130)	TCATCTGCGACGTGGGGATGT	0.567																																					Ovarian(79;763 1781 6490 50276)	ENST00000319023.2																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	25						c.(253-255)gaC>gaT		NAD synthetase 1	L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)						124	102	110					11																	71169582		2200	4294	6494	SO:0001819	synonymous_variant	55191				NAD biosynthetic process|water-soluble vitamin metabolic process	cytosol	ATP binding|hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds|NAD+ synthase (glutamine-hydrolyzing) activity|protein binding	g.chr11:71169582C>T	AB091316	CCDS8201.1	11q13.4	2008-02-05				ENSG00000172890			29832	protein-coding gene	gene with protein product		608285				12547821	Standard	NM_018161		Approved	FLJ10631	uc001oqn.3	Q6IA69		ENST00000319023.2:c.255C>T	11.37:g.71169582C>T							p.D85D	NM_018161.4	NP_060631.2	Q6IA69	NADE_HUMAN			3	443	+			85			CN hydrolase.		B3KUU4|Q86SN2|Q9HA25|Q9NVM8	Silent	SNP	ENST00000319023.2	37	c.255C>T	CCDS8201.1																																																																																				0.567	NADSYN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394356.1	NM_018161		22	32	0	0	0	1	0	22	32					T	71169582	C	T	71169582	2	4	435	1	0	0	0	0	0	0	0	1	10138	535	19	1		1	NADSYN1	11	71169582	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	14344	71169582	63836934	5318	26243											
NADSYN1	55191	broad.mit.edu	37	chr11	71193052	71193052	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tccatgtgctgccaggtctgCgaggccgtgaggagtggaag	7	8	17	9	2	1	1	0	1	1	0	2	4	2	3	3	4	3	1	3	4	1	0	rs529440311		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:71193052C>T	ENST00000319023.2	+	13	1319	c.1131C>T	c.(1129-1131)tgC>tgT	p.C377C	NADSYN1_ENST00000530055.1_Silent_p.C6C|NADSYN1_ENST00000526039.2_3'UTR|NADSYN1_ENST00000539574.1_Silent_p.C117C	NM_018161.4	NP_060631.2	Q6IA69	NADE_HUMAN	NAD synthetase 1	377	Ligase. {ECO:0000250}.				NAD biosynthetic process (GO:0009435)|NAD metabolic process (GO:0019674)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds (GO:0016810)|NAD+ synthase (glutamine-hydrolyzing) activity (GO:0003952)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	25					L-Glutamine(DB00130)	GCCAGGTCTGCGAGGCCGTGA	0.622																																					Ovarian(79;763 1781 6490 50276)	ENST00000319023.2																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	25						c.(1129-1131)tgC>tgT		NAD synthetase 1	L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)						65	52	57					11																	71193052		2200	4294	6494	SO:0001819	synonymous_variant	55191				NAD biosynthetic process|water-soluble vitamin metabolic process	cytosol	ATP binding|hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds|NAD+ synthase (glutamine-hydrolyzing) activity|protein binding	g.chr11:71193052C>T	AB091316	CCDS8201.1	11q13.4	2008-02-05				ENSG00000172890			29832	protein-coding gene	gene with protein product		608285				12547821	Standard	NM_018161		Approved	FLJ10631	uc001oqn.3	Q6IA69		ENST00000319023.2:c.1131C>T	11.37:g.71193052C>T						NADSYN1_ENST00000539574.1_Silent_p.C117C|NADSYN1_ENST00000530055.1_Silent_p.C6C|NADSYN1_ENST00000526039.2_3'UTR	p.C377C	NM_018161.4	NP_060631.2	Q6IA69	NADE_HUMAN			13	1319	+			377			Ligase (By similarity).		B3KUU4|Q86SN2|Q9HA25|Q9NVM8	Silent	SNP	ENST00000319023.2	37	c.1131C>T	CCDS8201.1																																																																																				0.622	NADSYN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394356.1	NM_018161		5	8	0	0	0	1	0	5	8					T	71193052	C	T	71193052	2	4	435	1	0	0	0	0	0	0	0	1	10138	776	27	1		1	NADSYN1	11	71193052	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	23470	71193052	63813464	5319	26244											
NUMA1	4926	broad.mit.edu	37	chr11	71725245	71725245	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttgggctcctgagccagatgCgtgctccttttctttcttag	4	16	10	11	1	2	2	0	1	2	1	4	2	4	2	3	1	3	2	3	1	1	5	rs140741340	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:71725245C>T	ENST00000393695.3	-	15	3635	c.3304G>A	c.(3304-3306)Gca>Aca	p.A1102T	NUMA1_ENST00000358965.6_Missense_Mutation_p.A1102T|RP11-849H4.4_ENST00000502284.1_RNA|NUMA1_ENST00000351960.6_Intron	NM_006185.2	NP_006176.2			nuclear mitotic apparatus protein 1									p.A1102T(1)		central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	65						GAGCCAGATGCGTGCTCCTTT	0.577			T	RARA	APL								C|||	3	0.000599042	0.0023	0	5008	,	,		21629	0		0	False		,,,				2504	0					ENST00000393695.3				Dom	yes		11	11q13	4926	T	nuclear mitotic apparatus protein 1			L	RARA		APL		1	Substitution - Missense(1)	p.A1102T(1)	endometrium(1)	central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	65						c.(3304-3306)Gca>Aca		nuclear mitotic apparatus protein 1		C	THR/ALA	8,4392	14.3+/-33.2	0,8,2192	106	116	113		3304	-1.4	0	11	dbSNP_134	113	0,8586		0,0,4293	yes	missense	NUMA1	NM_006185.2	58	0,8,6485	TT,TC,CC		0.0,0.1818,0.0616	benign	1102/2116	71725245	8,12978	2200	4293	6493	SO:0001583	missense	0				G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization	chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole	protein binding|structural molecule activity	g.chr11:71725245C>T	Z11584	CCDS31633.1, CCDS66156.1	11q13	2008-02-05				ENSG00000137497			8059	protein-coding gene	gene with protein product		164009				8406455	Standard	NM_006185		Approved		uc001orl.1	Q14980		ENST00000393695.3:c.3304G>A	11.37:g.71725245C>T	ENSP00000377298:p.Ala1102Thr					NUMA1_ENST00000351960.6_Intron|NUMA1_ENST00000358965.6_Missense_Mutation_p.A1102T	p.A1102T	NM_006185.2	NP_006176.2	Q14980	NUMA1_HUMAN			15	3635	-			1102						Missense_Mutation	SNP	ENST00000393695.3	37	c.3304G>A	CCDS31633.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	1.779	-0.482482	0.04383	0.001818	0.0	ENSG00000137497	ENST00000358965;ENST00000393695;ENST00000359652;ENST00000536544	T;T	0.12774	2.65;2.65	3.94	-1.37	0.09056	.	1.874060	0.02658	N	0.107212	T	0.11922	0.0290	L	0.50333	1.59	0.09310	N	0.999999	B;B;B;B	0.10296	0.003;0.001;0.003;0.001	B;B;B;B	0.06405	0.001;0.001;0.002;0.001	T	0.24977	-1.0145	9	.	.	.	.	0.8624	0.01196	0.2635:0.3743:0.1285:0.2337	.	1108;586;1102;1102	Q4LE64;Q59HB8;Q14980-2;Q14980	.;.;.;NUMA1_HUMAN	T	1102;1102;665;71	ENSP00000351851:A1102T;ENSP00000377298:A1102T	.	A	-	1	0	NUMA1	71402893	0.000000	0.05858	0.015000	0.15790	0.293000	0.27360	-1.273000	0.02823	-0.391000	0.07763	-0.254000	0.11334	GCA		0.577	NUMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395769.1			44	66	0	0	0	1	0	44	66					T	71725245	C	T	71725245	3	4	435	1	0	0	0	0	1	0	0	0	10750	768	27	1	3095	1	NUMA1	11	71725245	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	532193	71725245	63281271	5320	26245											
NUMA1	4926	broad.mit.edu	37	chr11	71725527	71725527	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccccgctcctgggtcagccGcgccacctccctttcctgct	2	9	9	21	3	1	0	1	0	0	0	4	0	4	0	8	1	2	2	8	1	0	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:71725527G>A	ENST00000393695.3	-	15	3353	c.3022C>T	c.(3022-3024)Cgg>Tgg	p.R1008W	NUMA1_ENST00000358965.6_Missense_Mutation_p.R1008W|RP11-849H4.4_ENST00000502284.1_RNA|NUMA1_ENST00000351960.6_Intron	NM_006185.2	NP_006176.2			nuclear mitotic apparatus protein 1											central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	65						TGGGTCAGCCGCGCCACCTCC	0.682			T	RARA	APL																																	ENST00000393695.3				Dom	yes		11	11q13	4926	T	nuclear mitotic apparatus protein 1			L	RARA		APL		0				central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	65						c.(3022-3024)Cgg>Tgg		nuclear mitotic apparatus protein 1							46	51	49					11																	71725527		2198	4290	6488	SO:0001583	missense	0				G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization	chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole	protein binding|structural molecule activity	g.chr11:71725527G>A	Z11584	CCDS31633.1, CCDS66156.1	11q13	2008-02-05				ENSG00000137497			8059	protein-coding gene	gene with protein product		164009				8406455	Standard	NM_006185		Approved		uc001orl.1	Q14980		ENST00000393695.3:c.3022C>T	11.37:g.71725527G>A	ENSP00000377298:p.Arg1008Trp					NUMA1_ENST00000351960.6_Intron|NUMA1_ENST00000358965.6_Missense_Mutation_p.R1008W|RP11-849H4.4_ENST00000502284.1_RNA	p.R1008W	NM_006185.2	NP_006176.2	Q14980	NUMA1_HUMAN			15	3353	-			1008						Missense_Mutation	SNP	ENST00000393695.3	37	c.3022C>T	CCDS31633.1	.	.	.	.	.	.	.	.	.	.	G	16.25	3.071449	0.55646	.	.	ENSG00000137497	ENST00000358965;ENST00000393695;ENST00000359652	T;T	0.14766	2.48;2.48	5.07	3.09	0.35607	.	0.000000	0.56097	D	0.000022	T	0.28632	0.0709	L	0.50333	1.59	0.24919	N	0.991994	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.997;0.999;0.999;0.997	T	0.03706	-1.1011	9	.	.	.	.	11.8451	0.52378	0.0:0.0:0.6813:0.3187	.	1014;492;1008;1008	Q4LE64;Q59HB8;Q14980-2;Q14980	.;.;.;NUMA1_HUMAN	W	1008;1008;571	ENSP00000351851:R1008W;ENSP00000377298:R1008W	.	R	-	1	2	NUMA1	71403175	0.013000	0.17824	0.434000	0.26772	0.758000	0.43043	1.018000	0.30002	0.641000	0.30601	0.655000	0.94253	CGG		0.682	NUMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395769.1			20	40	0	0	0	1	0	20	40					A	71725527	G	A	71725527	3	1	435	1	0	0	0	0	1	0	0	0	10750	1086	38	1	3377	1	NUMA1	11	71725527	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	282	71725527	63280989	5321	26246											
NUMA1	4926	broad.mit.edu	37	chr11	71725990	71725990	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tctatgcctgccaccttctcCtttgcctcctgcagctcctg	3	14	6	18	0	2	0	0	0	2	0	5	0	4	0	7	0	5	2	7	0	1	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:71725990C>A	ENST00000393695.3	-	15	2890	c.2559G>T	c.(2557-2559)aaG>aaT	p.K853N	NUMA1_ENST00000358965.6_Missense_Mutation_p.K853N|RP11-849H4.4_ENST00000502284.1_RNA|NUMA1_ENST00000351960.6_Intron	NM_006185.2	NP_006176.2			nuclear mitotic apparatus protein 1											central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	65						CCACCTTCTCCTTTGCCTCCT	0.582			T	RARA	APL																																	ENST00000393695.3				Dom	yes		11	11q13	4926	T	nuclear mitotic apparatus protein 1			L	RARA		APL		0				central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	65						c.(2557-2559)aaG>aaT		nuclear mitotic apparatus protein 1							122	112	116					11																	71725990		2200	4293	6493	SO:0001583	missense	0				G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization	chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole	protein binding|structural molecule activity	g.chr11:71725990C>A	Z11584	CCDS31633.1, CCDS66156.1	11q13	2008-02-05				ENSG00000137497			8059	protein-coding gene	gene with protein product		164009				8406455	Standard	NM_006185		Approved		uc001orl.1	Q14980		ENST00000393695.3:c.2559G>T	11.37:g.71725990C>A	ENSP00000377298:p.Lys853Asn					NUMA1_ENST00000351960.6_Intron|NUMA1_ENST00000358965.6_Missense_Mutation_p.K853N|RP11-849H4.4_ENST00000502284.1_RNA	p.K853N	NM_006185.2	NP_006176.2	Q14980	NUMA1_HUMAN			15	2890	-			853						Missense_Mutation	SNP	ENST00000393695.3	37	c.2559G>T	CCDS31633.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.984727	0.74474	.	.	ENSG00000137497	ENST00000358965;ENST00000393695;ENST00000359652	T;T	0.13420	2.59;2.59	5.54	5.54	0.83059	.	0.368069	0.26715	N	0.022864	T	0.17619	0.0423	L	0.40543	1.245	0.32084	N	0.592739	B;B;P;P	0.41131	0.447;0.403;0.739;0.739	B;B;P;P	0.44561	0.286;0.283;0.453;0.453	T	0.03095	-1.1073	9	.	.	.	.	16.9839	0.86335	0.0:1.0:0.0:0.0	.	859;337;853;853	Q4LE64;Q59HB8;Q14980-2;Q14980	.;.;.;NUMA1_HUMAN	N	853;853;416	ENSP00000351851:K853N;ENSP00000377298:K853N	.	K	-	3	2	NUMA1	71403638	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.558000	0.45879	2.611000	0.88343	0.655000	0.94253	AAG		0.582	NUMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395769.1			11	53	1	0	1.58986e-06	1	1.65464e-06	11	53					A	71725990	C	A	71725990	3	1	435	1	0	0	0	0	1	0	0	0	10750	680	24	5	3840	5	NUMA1	11	71725990	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	463	71725990	63280526	5322	26247											
FOLR3	2352	broad.mit.edu	37	chr11	71850454	71850454	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgtgcaaagaggactgtgagCgctggtgggaggactgtcgc	8	8	18	7	2	0	2	0	1	0	1	1	5	0	5	0	4	2	2	0	4	1	0	rs374588118		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:71850454C>T	ENST00000445078.2	+	4	612	c.541C>T	c.(541-543)Cgc>Tgc	p.R181C	FOLR3_ENST00000456237.1_Missense_Mutation_p.R183C|FOLR3_ENST00000442948.2_Missense_Mutation_p.R140C			P41439	FOLR3_HUMAN	folate receptor 3 (gamma)	139					folic acid transport (GO:0015884)	extracellular region (GO:0005576)|extrinsic component of membrane (GO:0019898)|membrane (GO:0016020)	folic acid binding (GO:0005542)			large_intestine(3)|lung(8)|prostate(2)	13					Folic Acid(DB00158)	GGACTGTGAGCGCTGGTGGGA	0.562													c|||	1	0.000199681	0	0	5008	,	,		19178	0.001		0	False		,,,				2504	0					ENST00000445078.2																			0				large_intestine(3)|lung(8)|prostate(2)	13						c.(541-543)Cgc>Tgc		folate receptor 3 (gamma)	Folic Acid(DB00158)	C	CYS/ARG	1,4395		0,1,2197	26	25	25		419	-3.3	0	11		25	1,8541		0,1,4270	no	missense	FOLR3	NM_000804.2	180	0,2,6467	TT,TC,CC		0.0117,0.0227,0.0155	benign	141/246	71850454	2,12936	2198	4271	6469	SO:0001583	missense	2352				folic acid transport	extracellular region|extrinsic to membrane|membrane fraction	folic acid binding|receptor activity	g.chr11:71850454C>T	U08471	CCDS73344.1	11q13.4	2012-11-14			ENSG00000110203	ENSG00000110203			3795	protein-coding gene	gene with protein product		602469				8110752	Standard	NM_000804		Approved	FR-G	uc001orx.1	P41439	OTTHUMG00000167870	ENST00000445078.2:c.541C>T	11.37:g.71850454C>T	ENSP00000390338:p.Arg181Cys					FOLR3_ENST00000456237.1_Missense_Mutation_p.R183C|FOLR3_ENST00000442948.2_Missense_Mutation_p.R140C	p.R181C			P41439	FOLR3_HUMAN			4	612	+			139					J3KQ90|Q05C14	Missense_Mutation	SNP	ENST00000445078.2	37	c.541C>T		.	.	.	.	.	.	.	.	.	.	N	7.871	0.728194	0.15507	2.27E-4	1.17E-4	ENSG00000110203	ENST00000445078;ENST00000456237;ENST00000442948	T;T;T	0.77620	-1.11;-1.11;-1.11	3.21	-3.26	0.05064	Folate receptor-like (1);	2.400050	0.02871	U	0.131552	D	0.83774	0.5327	.	.	.	0.09310	N	1	D;B	0.76494	0.999;0.064	P;B	0.62649	0.905;0.032	T	0.73418	-0.3989	9	0.52906	T	0.07	.	9.0312	0.36260	0.1741:0.6188:0.2071:0.0	.	183;139	E9PGT2;P41439	.;FOLR3_HUMAN	C	181;183;140	ENSP00000390338:R181C;ENSP00000399235:R183C;ENSP00000411161:R140C	ENSP00000411161:R140C	R	+	1	0	FOLR3	71528102	0.000000	0.05858	0.036000	0.18154	0.371000	0.29859	-2.408000	0.01042	-0.606000	0.05746	0.591000	0.81541	CGC		0.562	FOLR3-001	NOVEL	upstream_ATG|basic	protein_coding	protein_coding	OTTHUMT00000396739.1	NM_000804		11	7	0	0	0	1	0	11	7					T	71850454	C	T	71850454	3	4	435	1	0	0	0	0	1	0	0	0	5983	768	27	1	429	1	FOLR3	11	71850454	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	124464	71850454	63156062	5323	26248											
FOLR1	2348	broad.mit.edu	37	chr11	71903288	71903288	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtagtaggggaggctcagaCaaggattgcatgggccagga	11	7	17	6	0	1	1	1	0	0	1	1	4	1	4	1	6	1	4	1	6	3	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:71903288C>T	ENST00000393679.1	+	2	507	c.71C>T	c.(70-72)aCa>aTa	p.T24I	FOLR1_ENST00000393681.2_Missense_Mutation_p.T24I|FOLR1_ENST00000393676.3_Missense_Mutation_p.T24I|RP11-807H22.7_ENST00000378140.3_RNA|FOLR1_ENST00000312293.4_Missense_Mutation_p.T24I			P15328	FOLR1_HUMAN	folate receptor 1 (adult)	24					cell death (GO:0008219)|folic acid metabolic process (GO:0046655)|folic acid transport (GO:0015884)|receptor-mediated endocytosis (GO:0006898)	anchored component of external side of plasma membrane (GO:0031362)|brush border membrane (GO:0031526)|cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	folic acid binding (GO:0005542)|folic acid transporter activity (GO:0008517)|receptor activity (GO:0004872)			cervix(2)|endometrium(1)|large_intestine(7)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	14					Methotrexate(DB00563)	GAGGCTCAGACAAGGATTGCA	0.557																																						ENST00000393679.1																			0				cervix(2)|endometrium(1)|large_intestine(7)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	14						c.(70-72)aCa>aTa		folate receptor 1 (adult)							134	118	123					11																	71903288		2200	4293	6493	SO:0001583	missense	2348				cell death|folic acid transport|receptor-mediated endocytosis	anchored to membrane|extracellular region|integral to plasma membrane|membrane fraction	folic acid binding|receptor activity	g.chr11:71903288C>T	J05013	CCDS8211.1	11q13.3-q14.1	2010-04-09			ENSG00000110195	ENSG00000110195			3791	protein-coding gene	gene with protein product		136430		FOLR		1717147	Standard	NM_000802		Approved		uc001osa.2	P15328		ENST00000393679.1:c.71C>T	11.37:g.71903288C>T	ENSP00000377284:p.Thr24Ile					FOLR1_ENST00000312293.4_Missense_Mutation_p.T24I|FOLR1_ENST00000393676.3_Missense_Mutation_p.T24I|FOLR1_ENST00000393681.2_Missense_Mutation_p.T24I|RP11-807H22.7_ENST00000378140.3_RNA	p.T24I			P15328	FOLR1_HUMAN			2	507	+			24					Q53EW2|Q6FGT8|Q6LC90|Q9UCT2	Missense_Mutation	SNP	ENST00000393679.1	37	c.71C>T	CCDS8211.1	.	.	.	.	.	.	.	.	.	.	-	7.637	0.680158	0.14907	.	.	ENSG00000110195	ENST00000312293;ENST00000393681;ENST00000393679;ENST00000393676	T;T;T;T	0.74106	-0.81;-0.81;-0.81;-0.81	3.05	-1.81	0.07882	.	1.785790	0.03536	N	0.223113	T	0.47930	0.1472	N	0.08118	0	0.09310	N	1	B	0.27450	0.179	B	0.21360	0.034	T	0.22941	-1.0202	10	0.23302	T	0.38	-15.1439	1.1033	0.01688	0.3822:0.2956:0.1878:0.1344	.	24	P15328	FOLR1_HUMAN	I	24	ENSP00000308137:T24I;ENSP00000377286:T24I;ENSP00000377284:T24I;ENSP00000377281:T24I	ENSP00000308137:T24I	T	+	2	0	FOLR1	71580936	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.284000	0.08422	-0.386000	0.07821	-0.188000	0.12872	ACA		0.557	FOLR1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396773.1	NM_016725		26	35	0	0	0	1	0	26	35					T	71903288	C	T	71903288	3	4	435	1	0	0	0	0	1	0	0	0	5981	478	17	3	73	3	FOLR1	11	71903288	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	52834	71903288	63103228	5324	26249											
ARAP1	116985	broad.mit.edu	37	chr11	72406494	72406494	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cactgtgcagatgaagtcacCggcatgctgcagggagacag	11	6	14	10	1	1	3	1	1	0	2	1	4	1	3	1	2	3	4	1	2	1	0	rs375239868		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:72406494C>T	ENST00000393609.3	-	26	3716	c.3514G>A	c.(3514-3516)Ggt>Agt	p.G1172S	ARAP1_ENST00000334211.8_Missense_Mutation_p.G927S|ARAP1_ENST00000495878.1_5'UTR|ARAP1_ENST00000359373.5_Missense_Mutation_p.G1172S|ARAP1_ENST00000455638.2_Missense_Mutation_p.G1172S|ARAP1_ENST00000429686.1_Missense_Mutation_p.G866S|ARAP1_ENST00000426523.1_Missense_Mutation_p.G927S|ARAP1-AS1_ENST00000542022.1_RNA|ARAP1_ENST00000393605.3_Missense_Mutation_p.G932S	NM_001040118.2	NP_001035207.1	Q96P48	ARAP1_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1	1172	Ras-associating. {ECO:0000255|PROSITE- ProRule:PRU00166}.				actin filament reorganization involved in cell cycle (GO:0030037)|negative regulation of stress fiber assembly (GO:0051497)|positive regulation of Cdc42 GTPase activity (GO:0043089)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of receptor recycling (GO:0001921)|regulation of ARF GTPase activity (GO:0032312)|regulation of cell shape (GO:0008360)|regulation of cellular component movement (GO:0051270)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|Rho GTPase activator activity (GO:0005100)|zinc ion binding (GO:0008270)			cervix(2)|endometrium(2)|large_intestine(10)|lung(8)|ovary(1)|skin(3)|urinary_tract(1)	27						ATGAAGTCACCGGCATGCTGC	0.592																																					Ovarian(102;1198 1520 13195 17913 37529)	ENST00000359373.5																			0				cervix(2)|endometrium(2)|large_intestine(10)|lung(8)|ovary(1)|skin(3)|urinary_tract(1)	27						c.(3514-3516)Ggt>Agt		ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1		C	SER/GLY,SER/GLY,SER/GLY	0,4400		0,0,2200	76	66	69		3514,2596,2779	3.9	1	11		69	1,8585	1.2+/-3.3	0,1,4292	no	missense,missense,missense	ARAP1	NM_001040118.2,NM_001135190.1,NM_015242.4	56,56,56	0,1,6492	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging	1172/1451,866/1134,927/1206	72406494	1,12985	2200	4293	6493	SO:0001583	missense	116985				actin filament reorganization involved in cell cycle|negative regulation of stress fiber assembly|positive regulation of Cdc42 GTPase activity|positive regulation of filopodium assembly|regulation of ARF GTPase activity|regulation of cell shape|regulation of cellular component movement|small GTPase mediated signal transduction	cytosol|Golgi cisterna membrane|plasma membrane	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|Rho GTPase activator activity|zinc ion binding	g.chr11:72406494C>T	AF411983	CCDS8217.2, CCDS41687.1, CCDS44671.1	11q13.3	2013-01-11	2008-09-22	2008-09-22	ENSG00000186635	ENSG00000186635		"ADP-ribosylation factor GTPase activating proteins", "Sterile alpha motif (SAM) domain containing", "Pleckstrin homology (PH) domain containing", "Ankyrin repeat domain containing"	16925	protein-coding gene	gene with protein product		606646	"centaurin, delta 2"	CENTD2			Standard	NM_001040118		Approved		uc001osu.3	Q96P48	OTTHUMG00000157102	ENST00000393609.3:c.3514G>A	11.37:g.72406494C>T	ENSP00000377233:p.Gly1172Ser					ARAP1_ENST00000426523.1_Missense_Mutation_p.G927S|ARAP1_ENST00000429686.1_Missense_Mutation_p.G866S|ARAP1_ENST00000393605.3_Missense_Mutation_p.G932S|ARAP1_ENST00000334211.8_Missense_Mutation_p.G927S|ARAP1_ENST00000393609.3_Missense_Mutation_p.G1172S|ARAP1_ENST00000495878.1_5'UTR|ARAP1_ENST00000455638.2_Missense_Mutation_p.G1172S	p.G1172S			Q96P48	ARAP1_HUMAN			26	4365	-			1172			Ras-associating.		A3KLL7|B2RTS2|O94879|Q4LDD5|Q59FI7|Q6PHS3|Q8WU51|Q96HP6|Q96L71	Missense_Mutation	SNP	ENST00000393609.3	37	c.3514G>A	CCDS41687.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.992511	0.74703	0.0	1.16E-4	ENSG00000186635	ENST00000359373;ENST00000455638;ENST00000393605;ENST00000334211;ENST00000393609;ENST00000426523;ENST00000429686	T;T;T;T;T;T;T	0.09911	2.93;2.93;2.97;3.02;2.93;3.02;2.99	4.85	3.91	0.45181	Ras-association (1);	0.148043	0.43579	D	0.000541	T	0.22551	0.0544	L	0.55481	1.735	0.40153	D	0.97697	D;D;P;D;D	0.57257	0.979;0.966;0.671;0.979;0.974	D;P;B;P;P	0.63381	0.914;0.5;0.19;0.725;0.861	T	0.00839	-1.1545	10	0.56958	D	0.05	.	8.9308	0.35668	0.1686:0.6684:0.163:0.0	.	927;866;1172;1172;932	E7EU13;B2RTS2;Q96P48-3;Q96P48;Q96P48-1	.;.;.;ARAP1_HUMAN;.	S	1172;1172;932;927;1172;927;866	ENSP00000352332:G1172S;ENSP00000390461:G1172S;ENSP00000377230:G932S;ENSP00000335506:G927S;ENSP00000377233:G1172S;ENSP00000392264:G927S;ENSP00000403127:G866S	ENSP00000335506:G927S	G	-	1	0	ARAP1	72084142	0.944000	0.32072	0.972000	0.41901	0.833000	0.47200	3.105000	0.50314	0.982000	0.38575	0.460000	0.39030	GGT		0.592	ARAP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000347428.1	NM_001040118		23	32	0	0	0	1	0	23	32					T	72406494	C	T	72406494	3	4	435	1	0	0	0	0	1	0	0	0	838	652	23	2	878	2	ARAP1	11	72406494	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	503206	72406494	62600022	5325	26250											
STARD10	10809	broad.mit.edu	37	chr11	72470359	72470359	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cgttgctgtcccatttcttgCggtactcaatgtcgtgtagg	5	15	11	10	3	2	0	1	0	1	0	4	0	3	0	1	2	3	4	1	2	3	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:72470359C>T	ENST00000334805.6	-	3	1194	c.275G>A	c.(274-276)cGc>cAc	p.R92H	ARAP1_ENST00000359373.5_Intron|STARD10_ENST00000538536.1_Missense_Mutation_p.R46H|STARD10_ENST00000538437.1_5'UTR|STARD10_ENST00000543304.1_Missense_Mutation_p.R92H|STARD10_ENST00000545082.1_Missense_Mutation_p.R63H	NM_006645.2	NP_006636.2	Q9Y365	PCTL_HUMAN	StAR-related lipid transfer (START) domain containing 10	92	START. {ECO:0000255|PROSITE- ProRule:PRU00197}.				bile acid secretion (GO:0032782)|positive regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035360)	cytosol (GO:0005829)|intercellular canaliculus (GO:0046581)|membrane (GO:0016020)|microvillus (GO:0005902)	lipid binding (GO:0008289)			endometrium(4)|large_intestine(1)|lung(2)|prostate(1)	8			BRCA - Breast invasive adenocarcinoma(5;7.08e-07)			CCATTTCTTGCGGTACTCAAT	0.527																																						ENST00000334805.6																			0				endometrium(4)|large_intestine(1)|lung(2)|prostate(1)	8						c.(274-276)cGc>cAc		StAR-related lipid transfer (START) domain containing 10							150	155	153					11																	72470359		2182	4270	6452	SO:0001583	missense	10809							g.chr11:72470359C>T	AF039696	CCDS41688.1	11q13	2011-09-12	2007-08-16	2003-02-07		ENSG00000214530		"StAR-related lipid transfer (START) domain containing"	10666	protein-coding gene	gene with protein product			"serologically defined colon cancer antigen 28", "START domain containing 10"	SDCCAG28		9610721	Standard	NM_006645		Approved	NY-CO-28, CGI-52, PCTP2	uc001otb.3	Q9Y365		ENST00000334805.6:c.275G>A	11.37:g.72470359C>T	ENSP00000335247:p.Arg92His					STARD10_ENST00000538437.1_5'UTR|STARD10_ENST00000538536.1_Missense_Mutation_p.R46H|ARAP1_ENST00000359373.5_Intron|STARD10_ENST00000545082.1_Missense_Mutation_p.R63H|STARD10_ENST00000543304.1_Missense_Mutation_p.R92H	p.R92H	NM_006645.2	NP_006636.2	Q9Y365	PCTL_HUMAN	BRCA - Breast invasive adenocarcinoma(5;7.08e-07)		3	1194	-			92			START.		O60532	Missense_Mutation	SNP	ENST00000334805.6	37	c.275G>A	CCDS41688.1	.	.	.	.	.	.	.	.	.	.	C	29.9	5.044944	0.93685	.	.	ENSG00000214530	ENST00000543304;ENST00000334805;ENST00000538536;ENST00000545082;ENST00000544767;ENST00000537947;ENST00000536728;ENST00000542989;ENST00000546314;ENST00000539138;ENST00000535054	T;T;T;T;T;T;T;T;T;D;T	0.86865	0.99;0.99;0.99;0.99;0.99;0.99;0.99;0.99;0.99;-2.18;0.58	5.61	4.69	0.59074	Lipid-binding START (3);START-like domain (1);	0.158692	0.41396	U	0.000894	D	0.93667	0.7977	M	0.92970	3.365	0.43734	D	0.996226	D;D	0.89917	1.0;0.999	D;D	0.71870	0.975;0.975	D	0.93669	0.6988	10	0.66056	D	0.02	-8.17	8.4866	0.33076	0.0:0.7626:0.1535:0.0839	.	46;92	F5GY11;Q9Y365	.;PCTL_HUMAN	H	92;92;46;63;23;92;23;92;92;63;46	ENSP00000438792:R92H;ENSP00000335247:R92H;ENSP00000440016:R46H;ENSP00000443548:R63H;ENSP00000438357:R23H;ENSP00000445657:R92H;ENSP00000442414:R23H;ENSP00000443597:R92H;ENSP00000445886:R92H;ENSP00000441589:R63H;ENSP00000440924:R46H	ENSP00000335247:R92H	R	-	2	0	STARD10	72148007	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.818000	0.86416	2.653000	0.90120	0.655000	0.94253	CGC		0.527	STARD10-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397254.1			28	52	0	0	0	1	0	28	52					T	72470359	C	T	72470359	3	4	435	1	0	0	0	0	1	0	0	0	15254	768	27	1	620	1	STARD10	11	72470359	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	63865	72470359	62536157	5326	26251											
FCHSD2	9873	broad.mit.edu	37	chr11	72554562	72554562	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atgttcctcaatggtcaactCatctggttgagaagcctgca	10	12	9	10	0	4	1	3	1	1	1	5	2	5	1	2	2	3	3	2	2	3	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:72554562C>T	ENST00000409418.4	-	15	1842	c.1459G>A	c.(1459-1461)Gag>Aag	p.E487K	FCHSD2_ENST00000458644.2_Missense_Mutation_p.E351K|ATG16L2_ENST00000534905.1_3'UTR|FCHSD2_ENST00000409263.1_5'Flank|FCHSD2_ENST00000409314.1_Missense_Mutation_p.E511K|FCHSD2_ENST00000409853.1_Missense_Mutation_p.E431K|FCHSD2_ENST00000311172.7_Missense_Mutation_p.E431K	NM_014824.2	NP_055639.2	O94868	FCSD2_HUMAN	FCH and double SH3 domains 2	487	SH3 1. {ECO:0000255|PROSITE- ProRule:PRU00192}.									endometrium(2)|large_intestine(11)|lung(5)|ovary(2)|prostate(1)|skin(1)	22			BRCA - Breast invasive adenocarcinoma(5;3.3e-05)			ATGGTCAACTCATCTGGTTGA	0.418																																						ENST00000409314.1																			0				endometrium(2)|large_intestine(11)|lung(5)|ovary(2)|prostate(1)|skin(1)	22						c.(1531-1533)Gag>Aag		FCH and double SH3 domains 2							192	165	174					11																	72554562		2200	4293	6493	SO:0001583	missense	9873						protein binding	g.chr11:72554562C>T	AB018312	CCDS8218.2	11q13.3	2008-02-05	2004-04-14	2004-04-16	ENSG00000137478	ENSG00000137478			29114	protein-coding gene	gene with protein product			"SH3 multiple domains 3"	SH3MD3		9872452, 15067381	Standard	NM_014824		Approved	KIAA0769	uc009ytl.3	O94868	OTTHUMG00000153082	ENST00000409418.4:c.1459G>A	11.37:g.72554562C>T	ENSP00000386722:p.Glu487Lys					FCHSD2_ENST00000458644.2_Missense_Mutation_p.E351K|ATG16L2_ENST00000534905.1_3'UTR|FCHSD2_ENST00000409853.1_Missense_Mutation_p.E431K|FCHSD2_ENST00000409418.4_Missense_Mutation_p.E487K|FCHSD2_ENST00000311172.7_Missense_Mutation_p.E431K	p.E511K			O94868	FCSD2_HUMAN	BRCA - Breast invasive adenocarcinoma(5;3.3e-05)		16	1699	-			487			SH3 1.		B4DNI3|Q7L8J9|Q8WVM2|Q96FV7|Q9UF77	Missense_Mutation	SNP	ENST00000409418.4	37	c.1531G>A	CCDS8218.2	.	.	.	.	.	.	.	.	.	.	C	27.9	4.877088	0.91664	.	.	ENSG00000137478	ENST00000311172;ENST00000409314;ENST00000409418;ENST00000458644;ENST00000409853	T;T;T;T;T	0.65732	-0.17;-0.17;-0.17;-0.17;-0.17	5.71	5.71	0.89125	Src homology-3 domain (4);	0.000000	0.85682	D	0.000000	D	0.86464	0.5939	H	0.96398	3.815	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.998	D;D;D	0.97110	1.0;0.998;0.994	D	0.90115	0.4195	10	0.72032	D	0.01	-23.1286	18.8555	0.92251	0.0:1.0:0.0:0.0	.	351;487;431	E7ENZ2;O94868;O94868-3	.;FCSD2_HUMAN;.	K	431;511;487;351;431	ENSP00000308978:E431K;ENSP00000386987:E511K;ENSP00000386722:E487K;ENSP00000402972:E351K;ENSP00000386314:E431K	ENSP00000308978:E431K	E	-	1	0	FCHSD2	72232210	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.463000	0.80869	2.709000	0.92574	0.655000	0.94253	GAG		0.418	FCHSD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329429.2	NM_014824		18	28	0	0	0	1	0	18	28					T	72554562	C	T	72554562	3	4	435	1	0	0	0	0	1	0	0	0	5790	835	29	3	787	3	FCHSD2	11	72554562	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	84203	72554562	62451954	5327	26252											
P2RY2	5029	broad.mit.edu	37	chr11	72945705	72945705	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgctggcctgccaggccccCgtgctctactttgtcaccac	4	10	10	17	1	2	0	1	0	1	0	2	0	2	0	5	2	4	2	5	2	1	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:72945705C>T	ENST00000311131.2	+	3	968	c.501C>T	c.(499-501)ccC>ccT	p.P167P	P2RY2_ENST00000393596.2_Silent_p.P167P|P2RY2_ENST00000393597.2_Silent_p.P167P	NM_002564.2|NM_176072.1	NP_002555|NP_788086	P41231	P2RY2_HUMAN	purinergic receptor P2Y, G-protein coupled, 2	167					cellular ion homeostasis (GO:0006873)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of mucus secretion (GO:0070257)|regulation of vasodilation (GO:0042312)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled purinergic nucleotide receptor activity (GO:0045028)|receptor activity (GO:0004872)			endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	25					Suramin(DB04786)	GCCAGGCCCCCGTGCTCTACT	0.721																																						ENST00000311131.2																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	25						c.(499-501)ccC>ccT		purinergic receptor P2Y, G-protein coupled, 2	Suramin(DB04786)						22	25	24					11																	72945705		2197	4285	6482	SO:0001819	synonymous_variant	5029				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger	integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	g.chr11:72945705C>T	U07225	CCDS8219.1	11q13.5-q14.1	2012-08-08				ENSG00000175591		"Purinergic receptors", "GPCR / Class A : Purinergic receptors, P2Y"	8541	protein-coding gene	gene with protein product		600041				8159738, 9286708	Standard	NM_002564		Approved	P2U	uc001otj.4	P41231		ENST00000311131.2:c.501C>T	11.37:g.72945705C>T						P2RY2_ENST00000393597.2_Silent_p.P167P|P2RY2_ENST00000393596.2_Silent_p.P167P	p.P167P	NM_002564.2|NM_176072.1	NP_002555.2|NP_788086.1	P41231	P2RY2_HUMAN			3	968	+			167					B2R9W3|Q96EM8	Silent	SNP	ENST00000311131.2	37	c.501C>T	CCDS8219.1																																																																																				0.721	P2RY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397336.1	NM_176072		17	21	0	0	0	1	0	17	21					T	72945705	C	T	72945705	2	4	435	1	0	0	0	0	0	0	0	1	11352	639	23	2		2	P2RY2	11	72945705	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	391143	72945705	62060811	5328	26253			1	46		5	5	562	C		2.751277e-05
P2RY2	5029	broad.mit.edu	37	chr11	72945789	72945789	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cccgagctcttcagccgcttCgtggcctacagctcagtcat	6	10	9	16	3	4	0	3	0	1	0	5	1	4	0	3	1	4	3	3	1	1	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:72945789C>T	ENST00000311131.2	+	3	1052	c.585C>T	c.(583-585)ttC>ttT	p.F195F	P2RY2_ENST00000393596.2_Silent_p.F195F|P2RY2_ENST00000393597.2_Silent_p.F195F	NM_002564.2|NM_176072.1	NP_002555|NP_788086	P41231	P2RY2_HUMAN	purinergic receptor P2Y, G-protein coupled, 2	195					cellular ion homeostasis (GO:0006873)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of mucus secretion (GO:0070257)|regulation of vasodilation (GO:0042312)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled purinergic nucleotide receptor activity (GO:0045028)|receptor activity (GO:0004872)			endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	25					Suramin(DB04786)	TCAGCCGCTTCGTGGCCTACA	0.652																																						ENST00000311131.2																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	25						c.(583-585)ttC>ttT		purinergic receptor P2Y, G-protein coupled, 2	Suramin(DB04786)						45	42	43					11																	72945789		2200	4293	6493	SO:0001819	synonymous_variant	5029				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger	integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	g.chr11:72945789C>T	U07225	CCDS8219.1	11q13.5-q14.1	2012-08-08				ENSG00000175591		"Purinergic receptors", "GPCR / Class A : Purinergic receptors, P2Y"	8541	protein-coding gene	gene with protein product		600041				8159738, 9286708	Standard	NM_002564		Approved	P2U	uc001otj.4	P41231		ENST00000311131.2:c.585C>T	11.37:g.72945789C>T						P2RY2_ENST00000393597.2_Silent_p.F195F|P2RY2_ENST00000393596.2_Silent_p.F195F	p.F195F	NM_002564.2|NM_176072.1	NP_002555.2|NP_788086.1	P41231	P2RY2_HUMAN			3	1052	+			195					B2R9W3|Q96EM8	Silent	SNP	ENST00000311131.2	37	c.585C>T	CCDS8219.1																																																																																				0.652	P2RY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397336.1	NM_176072		11	15	0	0	0	1	0	11	15					T	72945789	C	T	72945789	2	4	435	1	0	0	0	0	0	0	0	1	11352	883	31	2		2	P2RY2	11	72945789	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	84	72945789	62060727	5329	26254			1	46		5	5	562	C		2.751277e-05
P2RY2	5029	broad.mit.edu	37	chr11	72945874	72945874	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttacgtgctcatggctcggCgactgctaaagccagcctac	8	9	11	13	3	1	0	1	0	0	0	2	1	1	0	2	2	6	4	2	2	4	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:72945874C>T	ENST00000311131.2	+	3	1137	c.670C>T	c.(670-672)Cga>Tga	p.R224*	P2RY2_ENST00000393596.2_Nonsense_Mutation_p.R224*|P2RY2_ENST00000393597.2_Nonsense_Mutation_p.R224*	NM_002564.2|NM_176072.1	NP_002555|NP_788086	P41231	P2RY2_HUMAN	purinergic receptor P2Y, G-protein coupled, 2	224					cellular ion homeostasis (GO:0006873)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of mucus secretion (GO:0070257)|regulation of vasodilation (GO:0042312)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled purinergic nucleotide receptor activity (GO:0045028)|receptor activity (GO:0004872)			endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	25					Suramin(DB04786)	CATGGCTCGGCGACTGCTAAA	0.647																																						ENST00000311131.2																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	25						c.(670-672)Cga>Tga		purinergic receptor P2Y, G-protein coupled, 2	Suramin(DB04786)						57	53	55					11																	72945874		2200	4293	6493	SO:0001587	stop_gained	5029				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger	integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	g.chr11:72945874C>T	U07225	CCDS8219.1	11q13.5-q14.1	2012-08-08				ENSG00000175591		"Purinergic receptors", "GPCR / Class A : Purinergic receptors, P2Y"	8541	protein-coding gene	gene with protein product		600041				8159738, 9286708	Standard	NM_002564		Approved	P2U	uc001otj.4	P41231		ENST00000311131.2:c.670C>T	11.37:g.72945874C>T	ENSP00000310305:p.Arg224*					P2RY2_ENST00000393597.2_Nonsense_Mutation_p.R224*|P2RY2_ENST00000393596.2_Nonsense_Mutation_p.R224*	p.R224*	NM_002564.2|NM_176072.1	NP_002555.2|NP_788086.1	P41231	P2RY2_HUMAN			3	1137	+			224					B2R9W3|Q96EM8	Nonsense_Mutation	SNP	ENST00000311131.2	37	c.670C>T	CCDS8219.1	.	.	.	.	.	.	.	.	.	.	C	37	6.000629	0.97189	.	.	ENSG00000175591	ENST00000393597;ENST00000311131;ENST00000393596	.	.	.	4.42	3.47	0.39725	.	0.197302	0.41712	D	0.000833	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.6121	0.51066	0.4907:0.5092:0.0:0.0	.	.	.	.	X	224	.	ENSP00000310305:R224X	R	+	1	2	P2RY2	72623522	0.908000	0.30866	0.907000	0.35723	0.751000	0.42716	0.544000	0.23253	0.917000	0.36895	0.561000	0.74099	CGA		0.647	P2RY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397336.1	NM_176072		11	23	0	0	0	1	0	11	23					T	72945874	C	T	72945874	4	4	435	1	0	0	0	0	0	1	0	0	11352	760	27	1	672	1	P2RY2	11	72945874	Nonsense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	85	72945874	62060642	5330	26255			1	46		5	5	562	C		2.751277e-05
P2RY2	5029	broad.mit.edu	37	chr11	72946149	72946149	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgggcagaggctcgtacgCtttgcccgagatgccaagcc	7	7	14	13	3	0	2	0	0	0	2	1	3	0	2	3	2	4	5	3	2	2	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:72946149C>A	ENST00000311131.2	+	3	1412	c.945C>A	c.(943-945)cgC>cgA	p.R315R	P2RY2_ENST00000393596.2_Silent_p.R315R|P2RY2_ENST00000393597.2_Silent_p.R315R	NM_002564.2|NM_176072.1	NP_002555|NP_788086	P41231	P2RY2_HUMAN	purinergic receptor P2Y, G-protein coupled, 2	315					cellular ion homeostasis (GO:0006873)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of mucus secretion (GO:0070257)|regulation of vasodilation (GO:0042312)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled purinergic nucleotide receptor activity (GO:0045028)|receptor activity (GO:0004872)			endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	25					Suramin(DB04786)	GGCTCGTACGCTTTGCCCGAG	0.647																																						ENST00000311131.2																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	25						c.(943-945)cgC>cgA		purinergic receptor P2Y, G-protein coupled, 2	Suramin(DB04786)						50	44	46					11																	72946149		2200	4293	6493	SO:0001819	synonymous_variant	5029				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger	integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	g.chr11:72946149C>A	U07225	CCDS8219.1	11q13.5-q14.1	2012-08-08				ENSG00000175591		"Purinergic receptors", "GPCR / Class A : Purinergic receptors, P2Y"	8541	protein-coding gene	gene with protein product		600041				8159738, 9286708	Standard	NM_002564		Approved	P2U	uc001otj.4	P41231		ENST00000311131.2:c.945C>A	11.37:g.72946149C>A						P2RY2_ENST00000393597.2_Silent_p.R315R|P2RY2_ENST00000393596.2_Silent_p.R315R	p.R315R	NM_002564.2|NM_176072.1	NP_002555.2|NP_788086.1	P41231	P2RY2_HUMAN			3	1412	+			315					B2R9W3|Q96EM8	Silent	SNP	ENST00000311131.2	37	c.945C>A	CCDS8219.1																																																																																				0.647	P2RY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397336.1	NM_176072		9	10	1	0	5.4927e-09	1	5.81457e-09	9	10					A	72946149	C	A	72946149	2	1	435	1	0	0	0	0	0	0	0	1	11352	784	28	5		5	P2RY2	11	72946149	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	275	72946149	62060367	5331	26256			1	46		5	5	562	C		2.751277e-05
P2RY2	5029	broad.mit.edu	37	chr11	72946266	72946266	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggatagaagatgtgttgggCagcagtgaggactctaggcg	11	8	17	5	1	1	3	0	1	1	2	1	5	1	5	0	4	1	3	0	4	3	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:72946266C>T	ENST00000311131.2	+	3	1529	c.1062C>T	c.(1060-1062)ggC>ggT	p.G354G	P2RY2_ENST00000393596.2_Silent_p.G354G|P2RY2_ENST00000393597.2_Silent_p.G354G	NM_002564.2|NM_176072.1	NP_002555|NP_788086	P41231	P2RY2_HUMAN	purinergic receptor P2Y, G-protein coupled, 2	354					cellular ion homeostasis (GO:0006873)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of mucus secretion (GO:0070257)|regulation of vasodilation (GO:0042312)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled purinergic nucleotide receptor activity (GO:0045028)|receptor activity (GO:0004872)			endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	25					Suramin(DB04786)	ATGTGTTGGGCAGCAGTGAGG	0.617																																						ENST00000311131.2																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	25						c.(1060-1062)ggC>ggT		purinergic receptor P2Y, G-protein coupled, 2	Suramin(DB04786)						84	88	87					11																	72946266		2192	4273	6465	SO:0001819	synonymous_variant	5029				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger	integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	g.chr11:72946266C>T	U07225	CCDS8219.1	11q13.5-q14.1	2012-08-08				ENSG00000175591		"Purinergic receptors", "GPCR / Class A : Purinergic receptors, P2Y"	8541	protein-coding gene	gene with protein product		600041				8159738, 9286708	Standard	NM_002564		Approved	P2U	uc001otj.4	P41231		ENST00000311131.2:c.1062C>T	11.37:g.72946266C>T						P2RY2_ENST00000393597.2_Silent_p.G354G|P2RY2_ENST00000393596.2_Silent_p.G354G	p.G354G	NM_002564.2|NM_176072.1	NP_002555.2|NP_788086.1	P41231	P2RY2_HUMAN			3	1529	+			354					B2R9W3|Q96EM8	Silent	SNP	ENST00000311131.2	37	c.1062C>T	CCDS8219.1																																																																																				0.617	P2RY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397336.1	NM_176072		20	46	0	0	0	1	0	20	46					T	72946266	C	T	72946266	2	4	435	1	0	0	0	0	0	0	0	1	11352	697	25	3		3	P2RY2	11	72946266	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	117	72946266	62060250	5332	26257			1	46		5	5	562	C		2.751277e-05
P2RY6	5031	broad.mit.edu	37	chr11	73008421	73008421	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagcggcctacaaaggcacGcggccgtttgccagtgccaa	9	5	13	14	4	0	0	0	0	0	0	0	0	0	0	4	3	4	3	4	3	3	2	rs562631177		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:73008421G>A	ENST00000393590.2	+	2	1157	c.858G>A	c.(856-858)acG>acA	p.T286T	P2RY6_ENST00000540124.1_Silent_p.T286T|P2RY6_ENST00000393592.2_Silent_p.T286T|P2RY6_ENST00000393591.1_Silent_p.T286T|P2RY6_ENST00000538328.1_Silent_p.T286T|P2RY6_ENST00000540342.1_Silent_p.T286T|P2RY6_ENST00000542092.1_Silent_p.T286T|P2RY6_ENST00000349767.2_Silent_p.T286T	NM_001277207.1|NM_001277208.1	NP_001264136.1|NP_001264137.1	Q15077	P2RY6_HUMAN	pyrimidinergic receptor P2Y, G-protein coupled, 6	286					phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled purinergic nucleotide receptor activity (GO:0045028)|G-protein coupled receptor activity (GO:0004930)			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(2)	14						ACAAAGGCACGCGGCCGTTTG	0.597													G|||	1	0.000199681	0	0	5008	,	,		18873	0		0	False		,,,				2504	0.001					ENST00000393590.2																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(2)	14						c.(856-858)acG>acA		pyrimidinergic receptor P2Y, G-protein coupled, 6							49	51	51					11																	73008421		2200	4291	6491	SO:0001819	synonymous_variant	0				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger	integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	g.chr11:73008421G>A		CCDS8220.1	11q13.5	2012-08-08				ENSG00000171631		"Purinergic receptors", "GPCR / Class A : Purinergic receptors, P2Y"	8543	protein-coding gene	gene with protein product		602451				8670200	Standard	NM_176797		Approved	P2Y6	uc001otr.4	Q15077		ENST00000393590.2:c.858G>A	11.37:g.73008421G>A						P2RY6_ENST00000540342.1_Silent_p.T286T|P2RY6_ENST00000540124.1_Silent_p.T286T|P2RY6_ENST00000542092.1_Silent_p.T286T|P2RY6_ENST00000538328.1_Silent_p.T286T|P2RY6_ENST00000349767.2_Silent_p.T286T|P2RY6_ENST00000393592.2_Silent_p.T286T|P2RY6_ENST00000393591.1_Silent_p.T286T	p.T286T	NM_001277207.1|NM_001277208.1	NP_001264136.1|NP_001264137.1	Q15077	P2RY6_HUMAN			2	1157	+			286					Q15754	Silent	SNP	ENST00000393590.2	37	c.858G>A	CCDS8220.1																																																																																				0.597	P2RY6-007	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397349.1			25	35	0	0	0	1	0	25	35					A	73008421	G	A	73008421	2	1	435	1	0	0	0	0	0	0	0	1	11354	1074	38	1		1	P2RY6	11	73008421	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	62155	73008421	61998095	5333	26258											
ARHGEF17	9828	broad.mit.edu	37	chr11	73020418	73020418	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctatcctgtcagccgcagTcgtgctgccagctccagcga	6	9	10	16	3	1	0	1	0	0	0	5	1	4	0	5	0	5	3	5	0	1	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:73020418T>C	ENST00000263674.3	+	1	1085	c.735T>C	c.(733-735)agT>agC	p.S245S	RP11-800A3.7_ENST00000546324.1_RNA	NM_014786.3	NP_055601.2	Q96PE2	ARHGH_HUMAN	Rho guanine nucleotide exchange factor (GEF) 17	245					actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(2)	32						TCAGCCGCAGTCGTGCTGCCA	0.677																																						ENST00000263674.3																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(2)	32						c.(733-735)agT>agC		Rho guanine nucleotide exchange factor (GEF) 17							10	13	12					11																	73020418		2113	4071	6184	SO:0001819	synonymous_variant	9828				actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity	g.chr11:73020418T>C	AF378754	CCDS8221.1	11q13.3	2011-11-16			ENSG00000110237	ENSG00000110237		"Rho guanine nucleotide exchange factors"	21726	protein-coding gene	gene with protein product	"Rho-specific guanine-nucleotide exchange factor 164 kDa", "tumor endothelial marker 4"					11559528, 12071859	Standard	NM_014786		Approved	TEM4, KIAA0337, p164-RhoGEF	uc001otu.3	Q96PE2	OTTHUMG00000167971	ENST00000263674.3:c.735T>C	11.37:g.73020418T>C							p.S245S	NM_014786.3	NP_055601.2	Q96PE2	ARHGH_HUMAN			1	1085	+			245					B2RP20|Q86XU2|Q8N2S0|Q9Y4G3	Silent	SNP	ENST00000263674.3	37	c.735T>C	CCDS8221.1																																																																																				0.677	ARHGEF17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397365.1	NM_014786		8	12	0	0	0	1	0	8	12					C	73020418	T	C	73020418	2	2	435	1	0	0	0	0	0	0	0	1	900	1664	58	4		4	ARHGEF17	11	73020418	Silent	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	11997	73020418	61986098	5334	26259											
ARHGEF17	9828	broad.mit.edu	37	chr11	73021272	73021272	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agccccagcatcacctggcaCgcgccccacactcaaggact	10	4	8	19	2	2	0	2	0	0	0	2	1	2	1	5	2	2	2	5	2	1	0	rs573060878		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:73021272C>T	ENST00000263674.3	+	1	1939	c.1589C>T	c.(1588-1590)aCg>aTg	p.T530M	RP11-800A3.7_ENST00000546324.1_RNA	NM_014786.3	NP_055601.2	Q96PE2	ARHGH_HUMAN	Rho guanine nucleotide exchange factor (GEF) 17	530					actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(2)	32						TCACCTGGCACGCGCCCCACA	0.632													C|||	1	0.000199681	0	0.0014	5008	,	,		15915	0		0	False		,,,				2504	0					ENST00000263674.3																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(2)	32						c.(1588-1590)aCg>aTg		Rho guanine nucleotide exchange factor (GEF) 17							52	51	52					11																	73021272		2200	4293	6493	SO:0001583	missense	9828				actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity	g.chr11:73021272C>T	AF378754	CCDS8221.1	11q13.3	2011-11-16			ENSG00000110237	ENSG00000110237		"Rho guanine nucleotide exchange factors"	21726	protein-coding gene	gene with protein product	"Rho-specific guanine-nucleotide exchange factor 164 kDa", "tumor endothelial marker 4"					11559528, 12071859	Standard	NM_014786		Approved	TEM4, KIAA0337, p164-RhoGEF	uc001otu.3	Q96PE2	OTTHUMG00000167971	ENST00000263674.3:c.1589C>T	11.37:g.73021272C>T	ENSP00000263674:p.Thr530Met						p.T530M	NM_014786.3	NP_055601.2	Q96PE2	ARHGH_HUMAN			1	1939	+			530					B2RP20|Q86XU2|Q8N2S0|Q9Y4G3	Missense_Mutation	SNP	ENST00000263674.3	37	c.1589C>T	CCDS8221.1	.	.	.	.	.	.	.	.	.	.	C	15.94	2.980948	0.53827	.	.	ENSG00000110237	ENST00000263674	T	0.57907	0.37	4.62	2.75	0.32379	.	0.586313	0.17166	N	0.184460	T	0.28797	0.0714	N	0.24115	0.695	0.23762	N	0.996916	P	0.44309	0.832	B	0.32724	0.151	T	0.24941	-1.0146	10	0.87932	D	0	-5.8892	3.8962	0.09141	0.2833:0.5276:0.0:0.1891	.	530	Q96PE2	ARHGH_HUMAN	M	530	ENSP00000263674:T530M	ENSP00000263674:T530M	T	+	2	0	ARHGEF17	72698920	0.000000	0.05858	0.998000	0.56505	0.942000	0.58702	0.378000	0.20569	0.564000	0.29238	0.561000	0.74099	ACG		0.632	ARHGEF17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397365.1	NM_014786		6	14	0	0	0	1	0	6	14					T	73021272	C	T	73021272	3	4	435	1	0	0	0	0	1	0	0	0	900	536	19	1	1591	1	ARHGEF17	11	73021272	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	854	73021272	61985244	5335	26260											
ARHGEF17	9828	broad.mit.edu	37	chr11	73071497	73071497	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccactcggcccgagggcaccGactcctacatttttgagttc	7	10	9	15	3	0	1	0	1	0	0	3	3	1	1	4	2	1	2	4	2	1	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:73071497G>A	ENST00000263674.3	+	11	4689	c.4339G>A	c.(4339-4341)Gac>Aac	p.D1447N		NM_014786.3	NP_055601.2	Q96PE2	ARHGH_HUMAN	Rho guanine nucleotide exchange factor (GEF) 17	1447					actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(2)	32						CGAGGGCACCGACTCCTACAT	0.607																																						ENST00000263674.3																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(2)	32						c.(4339-4341)Gac>Aac		Rho guanine nucleotide exchange factor (GEF) 17							113	126	122					11																	73071497		2200	4293	6493	SO:0001583	missense	9828				actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity	g.chr11:73071497G>A	AF378754	CCDS8221.1	11q13.3	2011-11-16			ENSG00000110237	ENSG00000110237		"Rho guanine nucleotide exchange factors"	21726	protein-coding gene	gene with protein product	"Rho-specific guanine-nucleotide exchange factor 164 kDa", "tumor endothelial marker 4"					11559528, 12071859	Standard	NM_014786		Approved	TEM4, KIAA0337, p164-RhoGEF	uc001otu.3	Q96PE2	OTTHUMG00000167971	ENST00000263674.3:c.4339G>A	11.37:g.73071497G>A	ENSP00000263674:p.Asp1447Asn						p.D1447N	NM_014786.3	NP_055601.2	Q96PE2	ARHGH_HUMAN			11	4689	+			1447					B2RP20|Q86XU2|Q8N2S0|Q9Y4G3	Missense_Mutation	SNP	ENST00000263674.3	37	c.4339G>A	CCDS8221.1	.	.	.	.	.	.	.	.	.	.	G	28.1	4.891676	0.91889	.	.	ENSG00000110237	ENST00000263674	T	0.34859	1.34	5.81	4.9	0.64082	.	0.362319	0.27284	N	0.020061	T	0.26011	0.0634	L	0.36672	1.1	0.38919	D	0.957703	P	0.44429	0.835	B	0.32805	0.153	T	0.12016	-1.0564	10	0.46703	T	0.11	-28.0956	13.8958	0.63770	0.0725:0.0:0.9275:0.0	.	1447	Q96PE2	ARHGH_HUMAN	N	1447	ENSP00000263674:D1447N	ENSP00000263674:D1447N	D	+	1	0	ARHGEF17	72749145	1.000000	0.71417	0.974000	0.42286	0.981000	0.71138	7.235000	0.78143	1.466000	0.48025	0.655000	0.94253	GAC		0.607	ARHGEF17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397365.1	NM_014786		44	58	0	0	0	1	0	44	58					A	73071497	G	A	73071497	3	1	435	1	0	0	0	0	1	0	0	0	900	1058	37	2	4381	2	ARHGEF17	11	73071497	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	50225	73071497	61935019	5336	26261											
ARHGEF17	9828	broad.mit.edu	37	chr11	73075239	73075239	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atctgaataaccaggtgtttGtgtctctggccaatggagag	10	12	12	7	0	2	2	0	1	2	1	3	3	2	2	2	3	1	1	2	3	3	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:73075239G>A	ENST00000263674.3	+	17	5706	c.5356G>A	c.(5356-5358)Gtg>Atg	p.V1786M		NM_014786.3	NP_055601.2	Q96PE2	ARHGH_HUMAN	Rho guanine nucleotide exchange factor (GEF) 17	1786					actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(2)	32						CCAGGTGTTTGTGTCTCTGGC	0.562																																						ENST00000263674.3																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(2)	32						c.(5356-5358)Gtg>Atg		Rho guanine nucleotide exchange factor (GEF) 17							162	164	163					11																	73075239		2200	4293	6493	SO:0001583	missense	9828				actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity	g.chr11:73075239G>A	AF378754	CCDS8221.1	11q13.3	2011-11-16			ENSG00000110237	ENSG00000110237		"Rho guanine nucleotide exchange factors"	21726	protein-coding gene	gene with protein product	"Rho-specific guanine-nucleotide exchange factor 164 kDa", "tumor endothelial marker 4"					11559528, 12071859	Standard	NM_014786		Approved	TEM4, KIAA0337, p164-RhoGEF	uc001otu.3	Q96PE2	OTTHUMG00000167971	ENST00000263674.3:c.5356G>A	11.37:g.73075239G>A	ENSP00000263674:p.Val1786Met						p.V1786M	NM_014786.3	NP_055601.2	Q96PE2	ARHGH_HUMAN			17	5706	+			1786					B2RP20|Q86XU2|Q8N2S0|Q9Y4G3	Missense_Mutation	SNP	ENST00000263674.3	37	c.5356G>A	CCDS8221.1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.322047	0.81580	.	.	ENSG00000110237	ENST00000263674	T	0.39592	1.07	5.81	5.81	0.92471	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.065981	0.64402	D	0.000010	T	0.52869	0.1761	M	0.89095	3.005	0.52501	D	0.99995	P	0.47350	0.894	B	0.43950	0.437	T	0.63265	-0.6676	10	0.87932	D	0	-18.6066	10.5612	0.45146	0.1463:0.0:0.8537:0.0	.	1786	Q96PE2	ARHGH_HUMAN	M	1786	ENSP00000263674:V1786M	ENSP00000263674:V1786M	V	+	1	0	ARHGEF17	72752887	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	6.439000	0.73430	2.746000	0.94184	0.655000	0.94253	GTG		0.562	ARHGEF17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397365.1	NM_014786		59	71	0	0	0	1	0	59	71					A	73075239	G	A	73075239	3	1	435	1	0	0	0	0	1	0	0	0	900	1377	48	3	5422	3	ARHGEF17	11	73075239	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	3742	73075239	61931277	5337	26262											
ARHGEF17	9828	broad.mit.edu	37	chr11	73076578	73076578	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagcagctggcagaagtagaCgtcactcctcccgtgcacag	10	6	12	13	2	1	2	1	0	0	2	3	3	3	2	2	1	3	5	2	1	2	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:73076578C>T	ENST00000263674.3	+	19	6044	c.5694C>T	c.(5692-5694)gaC>gaT	p.D1898D		NM_014786.3	NP_055601.2	Q96PE2	ARHGH_HUMAN	Rho guanine nucleotide exchange factor (GEF) 17	1898					actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(2)	32						CAGAAGTAGACGTCACTCCTC	0.582																																						ENST00000263674.3																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(2)	32						c.(5692-5694)gaC>gaT		Rho guanine nucleotide exchange factor (GEF) 17							150	112	125					11																	73076578		2200	4293	6493	SO:0001819	synonymous_variant	9828				actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity	g.chr11:73076578C>T	AF378754	CCDS8221.1	11q13.3	2011-11-16			ENSG00000110237	ENSG00000110237		"Rho guanine nucleotide exchange factors"	21726	protein-coding gene	gene with protein product	"Rho-specific guanine-nucleotide exchange factor 164 kDa", "tumor endothelial marker 4"					11559528, 12071859	Standard	NM_014786		Approved	TEM4, KIAA0337, p164-RhoGEF	uc001otu.3	Q96PE2	OTTHUMG00000167971	ENST00000263674.3:c.5694C>T	11.37:g.73076578C>T							p.D1898D	NM_014786.3	NP_055601.2	Q96PE2	ARHGH_HUMAN			19	6044	+			1898					B2RP20|Q86XU2|Q8N2S0|Q9Y4G3	Silent	SNP	ENST00000263674.3	37	c.5694C>T	CCDS8221.1																																																																																				0.582	ARHGEF17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397365.1	NM_014786		17	24	0	0	0	1	0	17	24					T	73076578	C	T	73076578	2	4	435	1	0	0	0	0	0	0	0	1	900	535	19	1		1	ARHGEF17	11	73076578	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	1339	73076578	61929938	5338	26263											
RELT	84957	broad.mit.edu	37	chr11	73103308	73103308	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtggcagcaggggccagcagCggtggtgagacacggcagcc	8	3	19	11	2	0	1	0	1	0	1	0	2	0	1	2	6	4	4	2	6	0	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:73103308C>T	ENST00000064780.2	+	6	681	c.420C>T	c.(418-420)agC>agT	p.S140S	RELT_ENST00000393580.2_Silent_p.S140S	NM_152222.1	NP_689408.1	Q969Z4	TR19L_HUMAN	RELT tumor necrosis factor receptor	140						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)	12						GGGCCAGCAGCGGTGGTGAGA	0.672																																						ENST00000064780.2																			0				NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)	12						c.(418-420)agC>agT		RELT tumor necrosis factor receptor							28	30	29					11																	73103308		2197	4290	6487	SO:0001819	synonymous_variant	84957					cytoplasm|integral to membrane|plasma membrane	binding|receptor activity	g.chr11:73103308C>T	AF319553	CCDS8222.1	11q13.2	2013-05-22	2007-06-14	2007-06-14		ENSG00000054967		"Tumor necrosis factor receptor superfamily"	13764	protein-coding gene	gene with protein product		611211	"tumor necrosis factor receptor superfamily, member 19-like"	TNFRSF19L		11313261, 16547002, 16950202, 16389068	Standard	NM_032871		Approved	FLJ14993	uc001otv.3	Q969Z4		ENST00000064780.2:c.420C>T	11.37:g.73103308C>T						RELT_ENST00000393580.2_Silent_p.S140S	p.S140S	NM_152222.1	NP_689408.1	Q969Z4	TR19L_HUMAN			6	681	+			140					Q86V34|Q96JU1|Q9BUX7	Silent	SNP	ENST00000064780.2	37	c.420C>T	CCDS8222.1																																																																																				0.672	RELT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397380.2	NM_032871		9	13	0	0	0	1	0	9	13					T	73103308	C	T	73103308	2	4	435	1	0	0	0	0	0	0	0	1	13221	767	27	1		1	RELT	11	73103308	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	26730	73103308	61903208	5339	26264											
RELT	84957	broad.mit.edu	37	chr11	73105729	73105729	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgaccagggttcccaaggcCggggccaaggcagggcgtca	8	3	16	14	3	1	0	1	0	0	0	2	1	2	0	5	6	0	2	5	6	2	1	rs576532007		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:73105729C>T	ENST00000064780.2	+	9	1257	c.996C>T	c.(994-996)gcC>gcT	p.A332A	RELT_ENST00000393580.2_Silent_p.A332A|RP11-809N8.2_ENST00000544674.1_RNA	NM_152222.1	NP_689408.1	Q969Z4	TR19L_HUMAN	RELT tumor necrosis factor receptor	332			A -> V (in dbSNP:rs12362779). {ECO:0000269|PubMed:15489334}.			cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)	12						TTCCCAAGGCCGGGGCCAAGG	0.637													C|||	1	0.000199681	0	0	5008	,	,		18840	0.001		0	False		,,,				2504	0					ENST00000064780.2																			0				NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)	12						c.(994-996)gcC>gcT		RELT tumor necrosis factor receptor							35	38	37					11																	73105729		2200	4293	6493	SO:0001819	synonymous_variant	84957					cytoplasm|integral to membrane|plasma membrane	binding|receptor activity	g.chr11:73105729C>T	AF319553	CCDS8222.1	11q13.2	2013-05-22	2007-06-14	2007-06-14		ENSG00000054967		"Tumor necrosis factor receptor superfamily"	13764	protein-coding gene	gene with protein product		611211	"tumor necrosis factor receptor superfamily, member 19-like"	TNFRSF19L		11313261, 16547002, 16950202, 16389068	Standard	NM_032871		Approved	FLJ14993	uc001otv.3	Q969Z4		ENST00000064780.2:c.996C>T	11.37:g.73105729C>T						RELT_ENST00000393580.2_Silent_p.A332A	p.A332A	NM_152222.1	NP_689408.1	Q969Z4	TR19L_HUMAN			9	1257	+			332		A -> V (in dbSNP:rs12362779).			Q86V34|Q96JU1|Q9BUX7	Silent	SNP	ENST00000064780.2	37	c.996C>T	CCDS8222.1																																																																																				0.637	RELT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397380.2	NM_032871		7	23	0	0	0	1	0	7	23					T	73105729	C	T	73105729	2	4	435	1	0	0	0	0	0	0	0	1	13221	639	23	2		2	RELT	11	73105729	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	2421	73105729	61900787	5340	26265											
DNAJB13	374407	broad.mit.edu	37	chr11	73662152	73662152	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctctgtgctcgggatcactcGcaattcagaggatgcccaga	9	9	11	12	2	3	2	2	0	1	2	5	4	3	4	1	2	2	2	1	2	1	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:73662152G>A	ENST00000339764.1	+	1	789	c.38G>A	c.(37-39)cGc>cAc	p.R13H		NM_153614.2	NP_705842.2	P59910	DJB13_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 13	13	J. {ECO:0000255|PROSITE- ProRule:PRU00286}.				protein folding (GO:0006457)					large_intestine(3)|lung(2)	5	Breast(11;7.42e-05)					GGGATCACTCGCAATTCAGAG	0.582																																						ENST00000339764.1																			0				large_intestine(3)|lung(2)	5						c.(37-39)cGc>cAc		DnaJ (Hsp40) homolog, subfamily B, member 13							91	71	78					11																	73662152		2200	4293	6493	SO:0001583	missense	374407				apoptosis|protein folding|spermatogenesis		heat shock protein binding|unfolded protein binding	g.chr11:73662152G>A	AF516185	CCDS8227.1	11q13.3	2011-09-02	2010-04-21		ENSG00000187726	ENSG00000187726		"Heat shock proteins / DNAJ (HSP40)"	30718	protein-coding gene	gene with protein product	"radial spoke 16 homolog A (Chlamydomonas)"	610263	"DnaJ (Hsp40) related, subfamily B, member 13"				Standard	NM_153614		Approved	TSARG6, RSPH16A	uc001ouo.3	P59910	OTTHUMG00000168093	ENST00000339764.1:c.38G>A	11.37:g.73662152G>A	ENSP00000344431:p.Arg13His						p.R13H	NM_153614.2	NP_705842.2	P59910	DJB13_HUMAN			1	789	+	Breast(11;7.42e-05)		13			J.		B3LEP4|Q8IZW5	Missense_Mutation	SNP	ENST00000339764.1	37	c.38G>A	CCDS8227.1	.	.	.	.	.	.	.	.	.	.	G	10.32	1.316374	0.23908	.	.	ENSG00000187726	ENST00000339764	T	0.33654	1.4	5.38	2.53	0.30540	Heat shock protein DnaJ, N-terminal (5);	0.202744	0.46145	N	0.000319	T	0.21962	0.0529	L	0.37697	1.125	0.23616	N	0.997281	P	0.41102	0.738	B	0.34452	0.183	T	0.14062	-1.0486	10	0.56958	D	0.05	.	5.4147	0.16368	0.2416:0.1445:0.6139:0.0	.	13	P59910	DJB13_HUMAN	H	13	ENSP00000344431:R13H	ENSP00000344431:R13H	R	+	2	0	DNAJB13	73339800	0.075000	0.21258	0.768000	0.31515	0.077000	0.17291	1.677000	0.37576	0.372000	0.24591	-1.018000	0.02450	CGC		0.582	DNAJB13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398100.1	NM_153614		5	14	0	0	0	1	0	5	14					A	73662152	G	A	73662152	3	1	435	1	0	0	0	0	1	0	0	0	4618	1087	38	1	40	1	DNAJB13	11	73662152	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	556423	73662152	61344364	5341	26266											
C2CD3	26005	broad.mit.edu	37	chr11	73834034	73834034	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttcaggttcagtgacttacaGgtgctgtataaaataaattc	13	14	8	6	0	2	1	2	1	0	0	3	1	2	1	0	2	2	3	0	2	6	7			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:73834034G>A	ENST00000334126.7	-	8	1590	c.1364C>T	c.(1363-1365)cCt>cTt	p.P455L	C2CD3_ENST00000313663.7_Splice_Site_p.P455L			Q4AC94	C2CD3_HUMAN	C2 calcium-dependent domain containing 3	455					brain development (GO:0007420)|centriole elongation (GO:0061511)|embryonic digit morphogenesis (GO:0042733)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|neural plate axis specification (GO:0021997)|neural tube development (GO:0021915)|nonmotile primary cilium assembly (GO:0035058)|protein localization to centrosome (GO:0071539)|protein processing (GO:0016485)|regulation of proteolysis (GO:0030162)|regulation of smoothened signaling pathway (GO:0008589)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)				NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(26)|ovary(4)|pancreas(2)|prostate(1)|skin(3)	64	Breast(11;4.16e-06)					GTGACTTACAGGTGCTGTATA	0.398																																						ENST00000334126.7																			0				NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(26)|ovary(4)|pancreas(2)|prostate(1)|skin(3)	64						c.e8+1		C2 calcium-dependent domain containing 3							57	59	58					11																	73834034		2200	4293	6493	SO:0001630	splice_region_variant	26005					centrosome		g.chr11:73834034G>A	BC035599	CCDS31636.1, CCDS66167.1	11q13.4	2014-02-12	2007-10-17		ENSG00000168014	ENSG00000168014			24564	protein-coding gene	gene with protein product		615944					Standard	XM_005273897		Approved	DKFZP586P0123	uc001ouu.2	Q4AC94	OTTHUMG00000168110	ENST00000334126.7:c.1365+1C>T	11.37:g.73834034G>A						C2CD3_ENST00000313663.7_Splice_Site_p.P455_splice	p.P455_splice			Q4AC94	C2CD3_HUMAN			8	1590	-	Breast(11;4.16e-06)		455					C9JR55|E2QRD1|Q2NLE1|Q3C1U9|Q6ZU92|Q8IYM4|Q8NB87|Q8NDH7|Q9Y4M2	Splice_Site	SNP	ENST00000334126.7	37	c.1365_splice		.	.	.	.	.	.	.	.	.	.	G	14.32	2.499215	0.44455	.	.	ENSG00000168014	ENST00000334126;ENST00000313663;ENST00000313681	T;T	0.11604	2.76;2.8	5.64	3.77	0.43336	.	0.245594	0.41001	D	0.000975	T	0.15565	0.0375	M	0.66939	2.045	0.45194	D	0.998204	P;P	0.42296	0.544;0.775	B;B	0.42282	0.175;0.382	T	0.01935	-1.1244	10	0.72032	D	0.01	-8.2683	11.4062	0.49900	0.1497:0.0:0.8503:0.0	.	455;455	Q4AC94;Q4AC94-1	C2CD3_HUMAN;.	L	455	ENSP00000334379:P455L;ENSP00000323339:P455L	ENSP00000323339:P455L	P	-	2	0	C2CD3	73511682	1.000000	0.71417	0.999000	0.59377	0.042000	0.13812	2.900000	0.48687	1.388000	0.46506	-0.142000	0.14014	CCT		0.398	C2CD3-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015531	Missense_Mutation	22	42	0	0	0	1	0	22	42					A	73834034	G	A	73834034	5	1	435	1	0	0	0	0	0	0	1	0	2154	1014	35	3	4623	3	C2CD3	11	73834034	Splice_Site	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	171882	73834034	61172482	5342	26267											
P4HA3	283208	broad.mit.edu	37	chr11	74009328	74009328	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atcctctgtcttccactctcCgtaagatcctcggaagagac	9	11	7	14	2	3	2	0	0	3	2	8	4	6	3	4	1	0	1	4	1	2	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:74009328C>T	ENST00000331597.4	-	4	691	c.646G>A	c.(646-648)Gga>Aga	p.G216R	P4HA3_ENST00000427714.2_Missense_Mutation_p.G216R	NM_182904.3	NP_878907.1	Q7Z4N8	P4HA3_HUMAN	prolyl 4-hydroxylase, alpha polypeptide III	216						endoplasmic reticulum (GO:0005783)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen (GO:0016702)|procollagen-proline 4-dioxygenase activity (GO:0004656)			NS(1)|biliary_tract(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(5)|skin(1)	15	Breast(11;2.31e-05)					TTCCACTCTCCGTAAGATCCT	0.493																																						ENST00000331597.4																			0				NS(1)|biliary_tract(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(5)|skin(1)	15						c.(646-648)Gga>Aga		prolyl 4-hydroxylase, alpha polypeptide III							119	107	111					11																	74009328		2200	4293	6493	SO:0001583	missense	283208					endoplasmic reticulum lumen	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 4-dioxygenase activity	g.chr11:74009328C>T	AY327887	CCDS8230.1, CCDS73347.1	11q13	2008-12-09	2008-12-09			ENSG00000149380			30135	protein-coding gene	gene with protein product	"collagen prolyl 4-hydroxylase alpha(III)"	608987	"procollagen-proline, 2-oxoglutarate 4-dioxygenase (proline 4-hydroxylase), alpha polypeptide III"			14500733	Standard	XM_005273924		Approved	C-P4Halpha(III)	uc001ouz.3	Q7Z4N8		ENST00000331597.4:c.646G>A	11.37:g.74009328C>T	ENSP00000332170:p.Gly216Arg					P4HA3_ENST00000427714.2_Missense_Mutation_p.G216R	p.G216R	NM_182904.3	NP_878907.1	Q7Z4N8	P4HA3_HUMAN			4	691	-	Breast(11;2.31e-05)		216					A0AV13|B4DUD3|Q5EBL3|Q5JPA9	Missense_Mutation	SNP	ENST00000331597.4	37	c.646G>A	CCDS8230.1	.	.	.	.	.	.	.	.	.	.	C	25.1	4.603466	0.87157	.	.	ENSG00000149380	ENST00000331597;ENST00000427714	T;T	0.57436	0.47;0.4	5.55	5.55	0.83447	Tetratricopeptide-like helical (1);	0.160763	0.56097	D	0.000038	T	0.66327	0.2778	L	0.51422	1.61	0.43110	D	0.99481	D;P	0.76494	0.999;0.796	D;B	0.64042	0.921;0.194	T	0.67369	-0.5688	10	0.72032	D	0.01	-14.286	17.0466	0.86505	0.0:1.0:0.0:0.0	.	216;216	B4DUD3;Q7Z4N8	.;P4HA3_HUMAN	R	216	ENSP00000332170:G216R;ENSP00000401749:G216R	ENSP00000332170:G216R	G	-	1	0	P4HA3	73686976	0.994000	0.37717	0.922000	0.36590	0.994000	0.84299	4.517000	0.60503	2.894000	0.99253	0.655000	0.94253	GGA		0.493	P4HA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382988.1	NM_182904		24	51	0	0	0	1	0	24	51					T	74009328	C	T	74009328	3	4	435	1	0	0	0	0	1	0	0	0	11358	661	23	2	1028	2	P4HA3	11	74009328	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	175294	74009328	60997188	5343	26268											
CHRDL2	25884	broad.mit.edu	37	chr11	74407619	74407619	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagggtctgggctaggaagaCgttccagtgacctgcatgga	9	8	15	9	1	1	2	0	1	1	1	2	4	2	4	2	4	1	3	2	4	2	2	rs149731074		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:74407619C>T	ENST00000376332.3	-	11	1721	c.1225G>A	c.(1225-1227)Gtc>Atc	p.V409I	CHRDL2_ENST00000263671.5_Missense_Mutation_p.R427H	NM_001278473.1	NP_001265402.1	Q6WN34	CRDL2_HUMAN	chordin-like 2	409					cartilage development (GO:0051216)|cell differentiation (GO:0030154)|ossification (GO:0001503)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)				endometrium(1)|kidney(1)|large_intestine(6)|lung(4)|prostate(1)|skin(2)	15	Hepatocellular(1;0.098)					GCTAGGAAGACGTTCCAGTGA	0.537																																						ENST00000376332.3																			0				endometrium(1)|kidney(1)|large_intestine(6)|lung(4)|prostate(1)|skin(2)	15						c.(1225-1227)Gtc>Atc		chordin-like 2		C	HIS/ARG	1,4399	2.1+/-5.4	0,1,2199	113	86	95		1280	1.9	1	11	dbSNP_134	95	0,8586		0,0,4293	no	missense	CHRDL2	NM_015424.3	29	0,1,6492	TT,TC,CC		0.0,0.0227,0.0077	benign	427/452	74407619	1,12985	2200	4293	6493	SO:0001583	missense	25884				cartilage development|cell differentiation|ossification	extracellular region|mitochondrion		g.chr11:74407619C>T	AL110168	CCDS8234.1, CCDS60893.1	11q13.4	2013-09-20			ENSG00000054938	ENSG00000054938			24168	protein-coding gene	gene with protein product		613127				12853144, 12975309	Standard	NM_015424		Approved	BNF1	uc001ovh.3	Q6WN34	OTTHUMG00000165623	ENST00000376332.3:c.1225G>A	11.37:g.74407619C>T	ENSP00000365510:p.Val409Ile					CHRDL2_ENST00000263671.5_Missense_Mutation_p.R427H	p.V409I	NM_001278473.1	NP_001265402.1	Q6WN34	CRDL2_HUMAN			11	1721	-	Hepatocellular(1;0.098)		409					A5PKU9|Q6WN30|Q6WN31|Q6WN32|Q7Z5J3	Missense_Mutation	SNP	ENST00000376332.3	37	c.1225G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	10.86|10.86	1.470508|1.470508	0.26423|0.26423	2.27E-4|2.27E-4	0.0|0.0	ENSG00000054938|ENSG00000054938	ENST00000525413;ENST00000263671|ENST00000529912;ENST00000376332;ENST00000376323;ENST00000393519	T|T	0.45276|0.39056	0.9|1.1	4.89|4.89	1.87|1.87	0.25490|0.25490	.|.	1.719190|.	0.02983|.	N|.	0.145835|.	T|T	0.16854|0.16854	0.0405|0.0405	N|N	0.08118|0.08118	0|0	0.22996|0.22996	N|N	0.998454|0.998454	B|B	0.02656|0.02656	0.0|0.0	B|B	0.01281|0.04013	0.0|0.001	T|T	0.30995|0.30995	-0.9959|-0.9959	10|9	0.27082|0.02654	T|T	0.32|1	-1.7121|-1.7121	5.7738|5.7738	0.18267|0.18267	0.0:0.6388:0.0:0.3612|0.0:0.6388:0.0:0.3612	.|.	427|409	Q6WN34-2|Q6WN34	.|CRDL2_HUMAN	H|I	175;427|67;409;261;259	ENSP00000263671:R427H|ENSP00000365510:V409I	ENSP00000263671:R427H|ENSP00000365501:V261I	R|V	-|-	2|1	0|0	CHRDL2|CHRDL2	74085267|74085267	0.990000|0.990000	0.36364|0.36364	0.997000|0.997000	0.53966|0.53966	0.974000|0.974000	0.67602|0.67602	0.226000|0.226000	0.17776|0.17776	0.421000|0.421000	0.25980|0.25980	0.407000|0.407000	0.27541|0.27541	CGT|GTC		0.537	CHRDL2-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000385391.1			13	20	0	0	0	1	0	13	20					T	74407619	C	T	74407619	3	4	435	1	0	0	0	0	1	0	0	0	3374	536	19	1	79	1	CHRDL2	11	74407619	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	398291	74407619	60598897	5344	26269											
CHRDL2	25884	broad.mit.edu	37	chr11	74415650	74415650	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagtgggggctggggtgcccGggcctctctttctcccagca	3	9	15	14	1	2	0	0	0	2	0	4	0	2	0	3	5	2	2	3	5	0	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:74415650G>A	ENST00000376332.3	-	7	1128	c.632C>T	c.(631-633)cCg>cTg	p.P211L	CHRDL2_ENST00000534159.1_5'UTR|CHRDL2_ENST00000263671.5_Missense_Mutation_p.P211L	NM_001278473.1	NP_001265402.1	Q6WN34	CRDL2_HUMAN	chordin-like 2	211					cartilage development (GO:0051216)|cell differentiation (GO:0030154)|ossification (GO:0001503)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)				endometrium(1)|kidney(1)|large_intestine(6)|lung(4)|prostate(1)|skin(2)	15	Hepatocellular(1;0.098)					TGGGGTGCCCGGGCCTCTCTT	0.592																																						ENST00000376332.3																			0				endometrium(1)|kidney(1)|large_intestine(6)|lung(4)|prostate(1)|skin(2)	15						c.(631-633)cCg>cTg		chordin-like 2							36	38	37					11																	74415650		2200	4293	6493	SO:0001583	missense	25884				cartilage development|cell differentiation|ossification	extracellular region|mitochondrion		g.chr11:74415650G>A	AL110168	CCDS8234.1, CCDS60893.1	11q13.4	2013-09-20			ENSG00000054938	ENSG00000054938			24168	protein-coding gene	gene with protein product		613127				12853144, 12975309	Standard	NM_015424		Approved	BNF1	uc001ovh.3	Q6WN34	OTTHUMG00000165623	ENST00000376332.3:c.632C>T	11.37:g.74415650G>A	ENSP00000365510:p.Pro211Leu					CHRDL2_ENST00000263671.5_Missense_Mutation_p.P211L|CHRDL2_ENST00000534159.1_5'UTR	p.P211L	NM_001278473.1	NP_001265402.1	Q6WN34	CRDL2_HUMAN			7	1128	-	Hepatocellular(1;0.098)		211					A5PKU9|Q6WN30|Q6WN31|Q6WN32|Q7Z5J3	Missense_Mutation	SNP	ENST00000376332.3	37	c.632C>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	8.633|8.633	0.894225|0.894225	0.17613|0.17613	.|.	.|.	ENSG00000054938|ENSG00000054938	ENST00000263671;ENST00000376332;ENST00000376323;ENST00000393519;ENST00000528789|ENST00000525413	T;T;T|.	0.60171|.	0.93;0.98;0.21|.	5.27|5.27	-4.41|-4.41	0.03590|0.03590	.|.	0.696895|.	0.14390|.	N|.	0.322613|.	T|T	0.31199|0.31199	0.0789|0.0789	L|L	0.28192|0.28192	0.835|0.835	0.09310|0.09310	N|N	0.999998|0.999998	B;B;B|.	0.10296|.	0.001;0.001;0.003|.	B;B;B|.	0.09377|.	0.001;0.003;0.004|.	T|T	0.35574|0.35574	-0.9783|-0.9783	10|5	0.21540|.	T|.	0.41|.	1.1982|1.1982	13.0203|13.0203	0.58781|0.58781	0.4923:0.0:0.5077:0.0|0.4923:0.0:0.5077:0.0	.|.	211;211;211|.	E9PCG7;Q6WN34;Q6WN34-2|.	.;CRDL2_HUMAN;.|.	L|W	211;211;97;95;211|11	ENSP00000263671:P211L;ENSP00000365510:P211L;ENSP00000431380:P211L|.	ENSP00000263671:P211L|.	P|R	-|-	2|1	0|2	CHRDL2|CHRDL2	74093298|74093298	0.004000|0.004000	0.15560|0.15560	0.007000|0.007000	0.13788|0.13788	0.517000|0.517000	0.34286|0.34286	-0.049000|-0.049000	0.11924|0.11924	-0.748000|-0.748000	0.04753|0.04753	0.462000|0.462000	0.41574|0.41574	CCG|CGG		0.592	CHRDL2-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000385391.1			11	14	0	0	0	1	0	11	14					A	74415650	G	A	74415650	3	1	435	1	0	0	0	0	1	0	0	0	3374	1116	39	2	747	2	CHRDL2	11	74415650	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	8031	74415650	60590866	5345	26270											
XRRA1	254225	broad.mit.edu	37	chr11	74554403	74554403	+	IGR	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agagccactcaccagctgccGgtaacgtgcctggaactcct	9	7	10	15	2	1	1	1	0	0	1	2	2	2	2	5	2	6	2	5	2	2	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:74554403G>A	ENST00000299563.4	+	0	7823				RN7SL239P_ENST00000490061.2_RNA|XRRA1_ENST00000321448.8_Missense_Mutation_p.R466W|XRRA1_ENST00000527087.1_3'UTR|XRRA1_ENST00000340360.6_Missense_Mutation_p.R741W	NM_001098638.1	NP_001092108.1	Q8NCN4	RN169_HUMAN	ring finger protein 169						cellular response to DNA damage stimulus (GO:0006974)|negative regulation of double-strand break repair (GO:2000780)|protein ubiquitination (GO:0016567)	intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|site of double-strand break (GO:0035861)	K63-linked polyubiquitin binding (GO:0070530)|ligase activity (GO:0016874)|nucleosome binding (GO:0031491)|zinc ion binding (GO:0008270)			breast(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|urinary_tract(1)	15						ACCAGCTGCCGGTAACGTGCC	0.627																																						ENST00000340360.6																			0				breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(3)	20						c.(2221-2223)Cgg>Tgg		X-ray radiation resistance associated 1							41	55	50					11																	74554403		2154	4246	6400	SO:0001628	intergenic_variant	143570				response to X-ray	cytoplasm|nucleus		g.chr11:74554403G>A	AB082522	CCDS41691.1	11q13.4	2008-02-05			ENSG00000166439	ENSG00000166439		"RING-type (C3HC4) zinc fingers"	26961	protein-coding gene	gene with protein product						12056414	Standard	NM_001098638		Approved	KIAA1991	uc001ovl.4	Q8NCN4	OTTHUMG00000165516		11.37:g.74554403G>A						XRRA1_ENST00000527087.1_3'UTR|XRRA1_ENST00000321448.8_Missense_Mutation_p.R466W	p.R741W	NM_182969.2	NP_892014.1	Q6P2D8	XRRA1_HUMAN			19	2552	-			741					Q6N015	Missense_Mutation	SNP	ENST00000299563.4	37	c.2221C>T	CCDS41691.1	.	.	.	.	.	.	.	.	.	.	G	18.12	3.552497	0.65425	.	.	ENSG00000166435	ENST00000340360;ENST00000321448;ENST00000344880;ENST00000398418	T;T	0.52295	0.67;1.4	5.15	4.18	0.49190	.	.	.	.	.	T	0.64204	0.2577	M	0.70595	2.14	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.76071	0.928;0.984;0.973;0.987	T	0.66081	-0.6012	9	0.87932	D	0	-14.246	9.9809	0.41813	0.0:0.0:0.7842:0.2158	.	741;685;351;727	Q6P2D8;Q6P2D8-4;Q8TEH2;Q6P2D8-3	XRRA1_HUMAN;.;.;.	W	741;466;727;685	ENSP00000339918:R741W;ENSP00000319303:R466W	ENSP00000319303:R466W	R	-	1	2	XRRA1	74232051	0.567000	0.26626	1.000000	0.80357	0.448000	0.32197	0.543000	0.23237	2.677000	0.91161	0.563000	0.77884	CGG		0.627	RNF169-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384741.1	XM_495886		6	5	0	0	0	1	0	6	5					A	74554403	G	A	74554403	1	1	435	0	1	0	0	0	0	0	0	0	17458	1115	39	2		2	XRRA1	11	74554403	IGR	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	138753	74554403	60452113	5346	26271											
ARRB1	408	broad.mit.edu	37	chr11	74987953	74987953	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcagatgtctgcatactggcGcactagggagggagaggaat	11	7	16	7	1	1	2	0	0	1	2	1	5	1	4	0	4	2	3	0	4	3	2	rs368449308		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:74987953G>A	ENST00000420843.2	-	10	803	c.706C>T	c.(706-708)Cgc>Tgc	p.R236C	ARRB1_ENST00000393505.4_Missense_Mutation_p.R236C|ARRB1_ENST00000360025.3_Missense_Mutation_p.R236C	NM_004041.4	NP_004032.2	P49407	ARRB1_HUMAN	arrestin, beta 1	236					activation of MAPK activity (GO:0000187)|apoptotic DNA fragmentation (GO:0006309)|blood coagulation (GO:0007596)|follicle-stimulating hormone signaling pathway (GO:0042699)|G-protein coupled receptor internalization (GO:0002031)|membrane organization (GO:0061024)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of GTPase activity (GO:0034260)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of interleukin-8 production (GO:0032717)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein ubiquitination (GO:0031397)|Notch signaling pathway (GO:0007219)|phototransduction (GO:0007602)|platelet activation (GO:0030168)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of GTPase activity (GO:0043547)|positive regulation of histone acetylation (GO:0035066)|positive regulation of histone H4 acetylation (GO:0090240)|positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0035774)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of receptor internalization (GO:0002092)|positive regulation of Rho protein signal transduction (GO:0035025)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-Golgi vesicle-mediated transport (GO:0006892)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein transport (GO:0015031)|protein ubiquitination (GO:0016567)|stress fiber assembly (GO:0043149)|transcription from RNA polymerase II promoter (GO:0006366)	basolateral plasma membrane (GO:0016323)|chromatin (GO:0000785)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|Golgi membrane (GO:0000139)|lysosomal membrane (GO:0005765)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|pseudopodium (GO:0031143)	angiotensin receptor binding (GO:0031701)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|enzyme inhibitor activity (GO:0004857)|GTPase activator activity (GO:0005096)|insulin-like growth factor receptor binding (GO:0005159)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)			breast(4)|large_intestine(2)|lung(4)|prostate(1)	11						GCATACTGGCGCACTAGGGAG	0.567																																						ENST00000420843.2																			0				breast(4)|large_intestine(2)|lung(4)|prostate(1)	11						c.(706-708)Cgc>Tgc		arrestin, beta 1		G	CYS/ARG,CYS/ARG	0,4400		0,0,2200	113	102	106		706,706	4.5	1	11		106	1,8585	1.2+/-3.3	0,1,4292	no	missense,missense	ARRB1	NM_004041.4,NM_020251.3	180,180	0,1,6492	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging	236/419,236/411	74987953	1,12985	2200	4293	6493	SO:0001583	missense	408				G-protein coupled receptor internalization|histone H4 acetylation|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein ubiquitination|platelet activation|positive regulation of ERK1 and ERK2 cascade|positive regulation of histone acetylation|positive regulation of Rho protein signal transduction|positive regulation of transcription from RNA polymerase II promoter|post-Golgi vesicle-mediated transport|proteasomal ubiquitin-dependent protein catabolic process|protein transport|protein ubiquitination|signal transduction|stress fiber assembly|transcription from RNA polymerase II promoter	chromatin|coated pit|cytoplasmic vesicle membrane|cytosol|Golgi membrane|lysosomal membrane|membrane fraction|nucleus|plasma membrane|pseudopodium|soluble fraction	angiotensin receptor binding|enzyme inhibitor activity|GTPase activator activity|insulin-like growth factor receptor binding|transcription factor binding|transcription regulatory region DNA binding|ubiquitin protein ligase binding	g.chr11:74987953G>A	BC003636	CCDS31640.1, CCDS44684.1	11q13	2008-12-11			ENSG00000137486	ENSG00000137486			711	protein-coding gene	gene with protein product	"arrestin 2"	107940		ARR1		8486659	Standard	NM_004041		Approved		uc001owe.2	P49407	OTTHUMG00000165444	ENST00000420843.2:c.706C>T	11.37:g.74987953G>A	ENSP00000409581:p.Arg236Cys					ARRB1_ENST00000360025.3_Missense_Mutation_p.R236C|ARRB1_ENST00000393505.4_Missense_Mutation_p.R236C	p.R236C	NM_004041.4	NP_004032.2	P49407	ARRB1_HUMAN			10	803	-			236					B6V9G8|O75625|O75630|Q2PP20|Q9BTK8	Missense_Mutation	SNP	ENST00000420843.2	37	c.706C>T	CCDS44684.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.8|20.8	4.047426|4.047426	0.75846|0.75846	0.0|0.0	1.16E-4|1.16E-4	ENSG00000137486|ENSG00000137486	ENST00000532447|ENST00000420843;ENST00000393505;ENST00000360025;ENST00000532525	.|T;T;T;T	.|0.17054	.|2.3;2.3;2.3;2.3	5.41|5.41	4.47|4.47	0.54385|0.54385	.|Immunoglobulin E-set (1);Arrestin, C-terminal (1);Arrestin-like, C-terminal (1);	.|0.000000	.|0.64402	.|D	.|0.000001	T|T	0.43523|0.43523	0.1251|0.1251	M|M	0.84082|0.84082	2.675|2.675	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.74023	.|0.921;0.982	T|T	0.44390|0.44390	-0.9331|-0.9331	5|10	.|0.66056	.|D	.|0.02	-14.3594|-14.3594	13.3735|13.3735	0.60726|0.60726	0.0:0.0:0.8426:0.1574|0.0:0.0:0.8426:0.1574	.|.	.|236;236	.|P49407-2;P49407	.|.;ARRB1_HUMAN	V|C	60|236;236;236;231	.|ENSP00000409581:R236C;ENSP00000377141:R236C;ENSP00000353124:R236C;ENSP00000433171:R231C	.|ENSP00000353124:R236C	A|R	-|-	2|1	0|0	ARRB1|ARRB1	74665601|74665601	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.942000|0.942000	0.58702|0.58702	9.456000|9.456000	0.97628|0.97628	2.532000|2.532000	0.85374|0.85374	0.561000|0.561000	0.74099|0.74099	GCG|CGC		0.567	ARRB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000384092.3	NM_004041		19	25	0	0	0	1	0	19	25					A	74987953	G	A	74987953	3	1	435	1	0	0	0	0	1	0	0	0	980	1087	38	1	578	1	ARRB1	11	74987953	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	433550	74987953	60018563	5347	26272											
GDPD5	81544	broad.mit.edu	37	chr11	75155510	75155510	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cttctgctcgagggccttccGgaaggacatgagcgtgtgct	6	10	14	11	3	1	1	0	1	1	0	3	4	2	3	2	3	3	2	2	3	1	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:75155510G>A	ENST00000336898.3	-	10	1582	c.745C>T	c.(745-747)Cgg>Tgg	p.R249W	GDPD5_ENST00000443276.2_3'UTR|GDPD5_ENST00000533805.1_Missense_Mutation_p.R4W|GDPD5_ENST00000376282.3_Missense_Mutation_p.R130W|GDPD5_ENST00000529721.1_Missense_Mutation_p.R249W|GDPD5_ENST00000533784.1_Missense_Mutation_p.R130W|GDPD5_ENST00000526177.1_Missense_Mutation_p.R111W	NM_030792.6	NP_110419.5	Q8WTR4	GDPD5_HUMAN	glycerophosphodiester phosphodiesterase domain containing 5	249	GP-PDE.				cerebral cortex neuron differentiation (GO:0021895)|glycerol metabolic process (GO:0006071)|lipid metabolic process (GO:0006629)|negative regulation of Notch signaling pathway (GO:0045746)|neuron projection development (GO:0031175)|positive regulation of neuron differentiation (GO:0045666)|regulation of timing of cell differentiation (GO:0048505)|spinal cord motor neuron differentiation (GO:0021522)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	glycerophosphodiester phosphodiesterase activity (GO:0008889)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|skin(2)	20						AGGGCCTTCCGGAAGGACATG	0.582																																						ENST00000526177.1																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|skin(2)	20						c.(331-333)Cgg>Tgg		glycerophosphodiester phosphodiesterase domain containing 5							102	89	93					11																	75155510		2200	4293	6493	SO:0001583	missense	81544				glycerol metabolic process|lipid metabolic process|nervous system development	endomembrane system|growth cone|integral to membrane|perinuclear region of cytoplasm	glycerophosphodiester phosphodiesterase activity	g.chr11:75155510G>A	AF318377	CCDS8238.1	11q13.4-q13.5	2011-01-25				ENSG00000158555			28804	protein-coding gene	gene with protein product		609632				18667693, 17275818	Standard	NM_030792		Approved	PP1665, GDE2	uc001owp.4	Q8WTR4		ENST00000336898.3:c.745C>T	11.37:g.75155510G>A	ENSP00000337972:p.Arg249Trp					GDPD5_ENST00000533805.1_Missense_Mutation_p.R4W|GDPD5_ENST00000336898.3_Missense_Mutation_p.R249W|GDPD5_ENST00000376282.3_Missense_Mutation_p.R130W|GDPD5_ENST00000443276.2_3'UTR|GDPD5_ENST00000529721.1_Missense_Mutation_p.R249W|GDPD5_ENST00000533784.1_Missense_Mutation_p.R130W	p.R111W			Q8WTR4	GDPD5_HUMAN			6	2209	-			249					Q49AQ5|Q6UX76|Q7Z4S0|Q8N781|Q8NCB7|Q8TB77	Missense_Mutation	SNP	ENST00000336898.3	37	c.331C>T	CCDS8238.1	.	.	.	.	.	.	.	.	.	.	G	16.11	3.030449	0.54790	.	.	ENSG00000158555	ENST00000526177;ENST00000533784;ENST00000529721;ENST00000336898;ENST00000533805;ENST00000376282	T;T;T;T;T;T	0.33438	1.41;1.41;1.41;1.41;1.41;1.41	5.53	3.59	0.41128	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);	0.422418	0.27518	N	0.019012	T	0.51381	0.1671	M	0.88640	2.97	0.80722	D	1	D;D;B	0.71674	0.992;0.998;0.279	P;P;B	0.52856	0.707;0.711;0.019	T	0.62248	-0.6894	10	0.87932	D	0	-41.521	12.7619	0.57370	0.0:0.0:0.6878:0.3122	.	111;130;249	Q8WTR4-3;Q8WTR4-2;Q8WTR4	.;.;GDPD5_HUMAN	W	111;130;249;249;4;130	ENSP00000434050:R111W;ENSP00000437049:R130W;ENSP00000433214:R249W;ENSP00000337972:R249W;ENSP00000435196:R4W;ENSP00000365459:R130W	ENSP00000337972:R249W	R	-	1	2	GDPD5	74833158	0.996000	0.38824	1.000000	0.80357	0.915000	0.54546	1.962000	0.40442	0.756000	0.33013	0.555000	0.69702	CGG		0.582	GDPD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384409.1	NM_030792		23	42	0	0	0	1	0	23	42					A	75155510	G	A	75155510	3	1	435	1	0	0	0	0	1	0	0	0	6327	1115	39	2	1104	2	GDPD5	11	75155510	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	167557	75155510	59851006	5348	26273											
SERPINH1	871	broad.mit.edu	37	chr11	75277586	75277586	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atggccaaggaccaggcagtGgagaacatcctggtgtcacc	11	6	13	11	0	1	1	1	0	0	1	2	3	2	2	4	5	1	1	4	5	2	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:75277586G>T	ENST00000524558.1	+	2	1627	c.192G>T	c.(190-192)gtG>gtT	p.V64V	SERPINH1_ENST00000530284.1_Silent_p.V64V|SERPINH1_ENST00000358171.3_Silent_p.V64V|SERPINH1_ENST00000525876.1_5'Flank|SERPINH1_ENST00000533603.1_Silent_p.V64V			P50454	SERPH_HUMAN	serpin peptidase inhibitor, clade H (heat shock protein 47), member 1, (collagen binding protein 1)	64					chondrocyte development involved in endochondral bone morphogenesis (GO:0003433)|collagen biosynthetic process (GO:0032964)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|negative regulation of endopeptidase activity (GO:0010951)|protein maturation (GO:0051604)|regulation of proteolysis (GO:0030162)|response to unfolded protein (GO:0006986)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	collagen binding (GO:0005518)|poly(A) RNA binding (GO:0044822)|serine-type endopeptidase inhibitor activity (GO:0004867)			endometrium(4)|large_intestine(3)|liver(1)|lung(4)|ovary(2)|stomach(1)	15	Ovarian(111;0.11)					ACCAGGCAGTGGAGAACATCC	0.682																																						ENST00000524558.1																			0				endometrium(4)|large_intestine(3)|liver(1)|lung(4)|ovary(2)|stomach(1)	15						c.(190-192)gtG>gtT		serpin peptidase inhibitor, clade H (heat shock protein 47), member 1, (collagen binding protein 1)							52	37	42					11																	75277586		2200	4293	6493	SO:0001819	synonymous_variant	871				regulation of proteolysis|response to unfolded protein	endoplasmic reticulum lumen|ER-Golgi intermediate compartment	collagen binding|serine-type endopeptidase inhibitor activity	g.chr11:75277586G>T	X61598	CCDS8239.1	11q13.5	2014-02-18	2005-08-18		ENSG00000149257	ENSG00000149257		"Serine (or cysteine) peptidase inhibitors"	1546	protein-coding gene	gene with protein product		600943	"serine (or cysteine) proteinase inhibitor, clade H (heat shock protein 47), member 2", "serine (or cysteine) proteinase inhibitor, clade H (heat shock protein 47), member 1, (collagen binding protein 1)"	CBP1, CBP2, SERPINH2		7656593, 9533029, 24172014	Standard	NM_001207014		Approved	HSP47, colligen	uc001owr.3	P50454	OTTHUMG00000165362	ENST00000524558.1:c.192G>T	11.37:g.75277586G>T						SERPINH1_ENST00000533603.1_Silent_p.V64V|SERPINH1_ENST00000358171.3_Silent_p.V64V|SERPINH1_ENST00000530284.1_Silent_p.V64V	p.V64V			P50454	SERPH_HUMAN			2	1627	+	Ovarian(111;0.11)		64					B3KVJ3|P29043|Q5XPB4|Q6NSJ6|Q8IY96|Q9NP88	Silent	SNP	ENST00000524558.1	37	c.192G>T	CCDS8239.1																																																																																				0.682	SERPINH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383610.1	NM_004353		11	5	1	0	1.58986e-06	1	1.65464e-06	11	5					T	75277586	G	T	75277586	2	4	435	1	0	0	0	0	0	0	0	1	14117	1335	47	5		5	SERPINH1	11	75277586	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	122076	75277586	59728930	5349	26274											
DGAT2	84649	broad.mit.edu	37	chr11	75507443	75507443	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ccacccccatggtatcatggGcctgggtgccttctgcaact	6	10	10	15	0	2	0	1	0	1	0	2	0	2	0	5	3	3	2	5	3	2	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:75507443G>A	ENST00000228027.7	+	5	760	c.500G>A	c.(499-501)gGc>gAc	p.G167D	DGAT2_ENST00000376262.3_Missense_Mutation_p.G124D	NM_032564.4	NP_115953.2	Q96PD7	DGAT2_HUMAN	diacylglycerol O-acyltransferase 2	167					acylglycerol acyl-chain remodeling (GO:0036155)|cellular lipid metabolic process (GO:0044255)|cellular response to oleic acid (GO:0071400)|cellular triglyceride homeostasis (GO:0035356)|cholesterol homeostasis (GO:0042632)|diacylglycerol metabolic process (GO:0046339)|fat pad development (GO:0060613)|fatty acid homeostasis (GO:0055089)|glycerol metabolic process (GO:0006071)|glycerophospholipid biosynthetic process (GO:0046474)|lipid storage (GO:0019915)|long-chain fatty-acyl-CoA metabolic process (GO:0035336)|low-density lipoprotein particle clearance (GO:0034383)|phospholipid metabolic process (GO:0006644)|regulation of plasma lipoprotein particle levels (GO:0097006)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|lipid particle (GO:0005811)|mitochondrion (GO:0005739)|perinuclear region of cytoplasm (GO:0048471)	2-acylglycerol O-acyltransferase activity (GO:0003846)|diacylglycerol O-acyltransferase activity (GO:0004144)|protein homodimerization activity (GO:0042803)|retinol O-fatty-acyltransferase activity (GO:0050252)			endometrium(3)|large_intestine(5)|lung(5)|prostate(2)|skin(2)	17	Ovarian(111;0.103)					GGTATCATGGGCCTGGGTGCC	0.542																																					Melanoma(35;811 1096 8354 24009 39363)	ENST00000228027.7																			0				endometrium(3)|large_intestine(5)|lung(5)|prostate(2)|skin(2)	17						c.(499-501)gGc>gAc		diacylglycerol O-acyltransferase 2							156	146	149					11																	75507443		2200	4293	6493	SO:0001583	missense	84649				glycerol metabolic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane	diacylglycerol O-acyltransferase activity	g.chr11:75507443G>A		CCDS31642.1, CCDS58162.1	11q13.3	2010-06-24	2010-06-24		ENSG00000062282	ENSG00000062282			16940	protein-coding gene	gene with protein product		606983	"diacylglycerol O-acyltransferase homolog 2 (mouse)"			11481335, 14970677	Standard	NM_032564		Approved		uc001oxa.3	Q96PD7	OTTHUMG00000165338	ENST00000228027.7:c.500G>A	11.37:g.75507443G>A	ENSP00000228027:p.Gly167Asp					DGAT2_ENST00000376262.3_Missense_Mutation_p.G124D	p.G167D	NM_032564.4	NP_115953.2	Q96PD7	DGAT2_HUMAN			5	760	+	Ovarian(111;0.103)		167					A6ND76|Q5U810|Q68CL3|Q68DJ0|Q8NDB7|Q96BS0|Q9BYE5	Missense_Mutation	SNP	ENST00000228027.7	37	c.500G>A	CCDS31642.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.230237	0.79688	.	.	ENSG00000062282	ENST00000524706;ENST00000533517;ENST00000228027;ENST00000376262;ENST00000525612;ENST00000526306	T;T	0.15256	2.44;2.44	5.88	5.88	0.94601	.	0.042151	0.85682	D	0.000000	T	0.24236	0.0587	L	0.48935	1.535	0.80722	D	1	P;P	0.47191	0.713;0.891	B;P	0.45829	0.446;0.494	T	0.00178	-1.1951	10	0.48119	T	0.1	-28.8132	18.8203	0.92094	0.0:0.0:1.0:0.0	.	124;167	Q96PD7-2;Q96PD7	.;DGAT2_HUMAN	D	76;76;167;124;121;76	ENSP00000228027:G167D;ENSP00000365438:G124D	ENSP00000228027:G167D	G	+	2	0	DGAT2	75185091	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.301000	0.96167	2.782000	0.95742	0.655000	0.94253	GGC		0.542	DGAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383506.1	NM_032564		52	83	0	0	0	1	0	52	83					A	75507443	G	A	75507443	3	1	435	1	0	0	0	0	1	0	0	0	4458	1203	42	3	518	3	DGAT2	11	75507443	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	229857	75507443	59499073	5350	26275											
LRRC32	2615	broad.mit.edu	37	chr11	76371565	76371565	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagggcagggagcctaagcGccgggcctcaaaggtccgca	9	3	16	13	3	1	0	1	0	0	0	2	1	2	1	4	4	2	3	4	4	2	1	rs150096749	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:76371565G>A	ENST00000407242.2	-	3	1314	c.1072C>T	c.(1072-1074)Cgc>Tgc	p.R358C	LRRC32_ENST00000464145.1_Intron|LRRC32_ENST00000404995.1_Missense_Mutation_p.R358C|AP001189.4_ENST00000447519.1_RNA|LRRC32_ENST00000260061.5_Missense_Mutation_p.R358C	NM_005512.2	NP_005503.1	Q14392	LRC32_HUMAN	leucine rich repeat containing 32	358					negative regulation of activated T cell proliferation (GO:0046007)|negative regulation of cytokine secretion (GO:0050710)|positive regulation of gene expression (GO:0010628)	integral component of plasma membrane (GO:0005887)		p.R358C(1)		endometrium(1)|large_intestine(3)|lung(26)|upper_aerodigestive_tract(1)	31						GAGCCTAAGCGCCGGGCCTCA	0.597													G|||	3	0.000599042	0	0.0014	5008	,	,		17791	0		0.002	False		,,,				2504	0					ENST00000407242.2																			1	Substitution - Missense(1)	p.R358C(1)	upper_aerodigestive_tract(1)	endometrium(1)|large_intestine(3)|lung(26)|upper_aerodigestive_tract(1)	31						c.(1072-1074)Cgc>Tgc		leucine rich repeat containing 32		G	CYS/ARG,CYS/ARG	0,4400		0,0,2200	27	27	27		1072,1072	3.3	0	11	dbSNP_134	27	3,8581	3.0+/-9.4	0,3,4289	yes	missense,missense	LRRC32	NM_001128922.1,NM_005512.2	180,180	0,3,6489	AA,AG,GG		0.0349,0.0,0.0231	probably-damaging,probably-damaging	358/663,358/663	76371565	3,12981	2200	4292	6492	SO:0001583	missense	2615					integral to plasma membrane		g.chr11:76371565G>A	Z24680	CCDS8245.1	11q13.5-q14	2008-02-05	2005-02-25	2005-02-25	ENSG00000137507	ENSG00000137507			4161	protein-coding gene	gene with protein product		137207	"glycoprotein A repetitions predominant"	D11S833E, GARP		8180135, 1543912	Standard	NM_005512		Approved		uc001oxq.4	Q14392	OTTHUMG00000133687	ENST00000407242.2:c.1072C>T	11.37:g.76371565G>A	ENSP00000384126:p.Arg358Cys					LRRC32_ENST00000260061.5_Missense_Mutation_p.R358C|LRRC32_ENST00000464145.1_Intron|LRRC32_ENST00000404995.1_Missense_Mutation_p.R358C|AP001189.4_ENST00000447519.1_RNA	p.R358C	NM_005512.2	NP_005503.1	Q14392	LRC32_HUMAN			3	1314	-			358					Q86V06	Missense_Mutation	SNP	ENST00000407242.2	37	c.1072C>T	CCDS8245.1	3	0.0013736263736263737	0	0.0	1	0.0027624309392265192	0	0.0	2	0.002638522427440633	G	7.098	0.573461	0.13623	0.0	3.49E-4	ENSG00000137507	ENST00000260061;ENST00000407242;ENST00000404995	T;T;T	0.04275	3.66;3.66;3.66	4.26	3.33	0.38152	.	1.580380	0.03205	N	0.175417	T	0.05731	0.0150	L	0.44542	1.39	0.09310	N	1	P	0.50617	0.937	B	0.38296	0.27	T	0.34153	-0.9840	10	0.44086	T	0.13	.	5.3611	0.16087	0.1339:0.0:0.6674:0.1987	.	358	Q14392	LRC32_HUMAN	C	358	ENSP00000260061:R358C;ENSP00000384126:R358C;ENSP00000385766:R358C	ENSP00000260061:R358C	R	-	1	0	LRRC32	76049213	0.000000	0.05858	0.001000	0.08648	0.607000	0.37147	0.700000	0.25601	0.984000	0.38629	0.484000	0.47621	CGC		0.597	LRRC32-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257926.2	NM_005512		3	13	0	0	0	1	0	3	13					A	76371565	G	A	76371565	3	1	435	1	0	0	0	0	1	0	0	0	8987	1087	38	1	920	1	LRRC32	11	76371565	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	864122	76371565	58634951	5351	26276											
MYO7A	4647	broad.mit.edu	37	chr11	76905558	76905558	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggcccagctggccatcgccGcccacaagaaggtagaaggg	10	3	15	13	2	0	2	0	0	0	2	1	2	0	2	4	4	1	2	4	4	4	1	rs575760892	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:76905558G>A	ENST00000409709.3	+	32	4584	c.4312G>A	c.(4312-4314)Gcc>Acc	p.A1438T	MYO7A_ENST00000458637.2_Missense_Mutation_p.A1438T|MYO7A_ENST00000409619.2_Missense_Mutation_p.A1427T	NM_000260.3	NP_000251.3	Q13402	MYO7A_HUMAN	myosin VIIA	1438	FERM 1. {ECO:0000255|PROSITE- ProRule:PRU00084}.				actin filament-based movement (GO:0030048)|auditory receptor cell stereocilium organization (GO:0060088)|equilibrioception (GO:0050957)|eye photoreceptor cell development (GO:0042462)|intracellular protein transport (GO:0006886)|lysosome organization (GO:0007040)|metabolic process (GO:0008152)|phagolysosome assembly (GO:0001845)|pigment granule transport (GO:0051904)|post-embryonic organ morphogenesis (GO:0048563)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|melanosome (GO:0042470)|myosin VII complex (GO:0031477)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|stereocilium (GO:0032420)|synapse (GO:0045202)	actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|spectrin binding (GO:0030507)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						GGCCATCGCCGCCCACAAGAA	0.617													G|||	2	0.000399361	0	0	5008	,	,		18558	0		0	False		,,,				2504	0.002					ENST00000409709.3																			0				NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						c.(4312-4314)Gcc>Acc		myosin VIIA							26	30	29					11																	76905558		1981	4141	6122	SO:0001583	missense	4647				actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception	cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse	actin binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr11:76905558G>A	U39226	CCDS53683.1, CCDS53684.1, CCDS53685.1	11q13.5	2013-01-08	2005-09-12		ENSG00000137474	ENSG00000137474		"A-kinase anchor proteins", "Myosins / Myosin superfamily : Class VII"	7606	protein-coding gene	gene with protein product		276903	"myosin VIIA (Usher syndrome 1B (autosomal recessive, severe))"	USH1B, DFNB2, DFNA11		8884266	Standard	NM_000260		Approved	NSRD2	uc001oyb.2	Q13402	OTTHUMG00000152822	ENST00000409709.3:c.4312G>A	11.37:g.76905558G>A	ENSP00000386331:p.Ala1438Thr					MYO7A_ENST00000409619.2_Missense_Mutation_p.A1427T|MYO7A_ENST00000458637.2_Missense_Mutation_p.A1438T	p.A1438T	NM_000260.3	NP_000251.3	Q13402	MYO7A_HUMAN			32	4584	+			1438			FERM 1.		B9A011|F8VUN5|P78427|Q13321|Q14785|Q92821|Q92822	Missense_Mutation	SNP	ENST00000409709.3	37	c.4312G>A	CCDS53683.1	.	.	.	.	.	.	.	.	.	.	G	17.69	3.453039	0.63290	.	.	ENSG00000137474	ENST00000409709;ENST00000458637;ENST00000409619;ENST00000545136;ENST00000358342;ENST00000343356;ENST00000341717;ENST00000458169;ENST00000544424	D;D;D;D	0.95447	-3.71;-3.71;-3.71;-3.71	4.85	4.85	0.62838	FERM central domain (1);Band 4.1 domain (1);FERM domain (1);FERM/acyl-CoA-binding protein, 3-helical bundle (1);	0.054709	0.64402	D	0.000001	D	0.93115	0.7808	L	0.45581	1.43	0.80722	D	1	B;B;B	0.32507	0.07;0.194;0.373	B;B;B	0.31337	0.048;0.128;0.094	D	0.91859	0.5498	10	0.33141	T	0.24	.	18.3266	0.90256	0.0:0.0:1.0:0.0	.	1427;1438;1438	B9A011;F8VUN5;Q13402	.;.;MYO7A_HUMAN	T	1438;1438;1427;649;1437;1407;1314;619;91	ENSP00000386331:A1438T;ENSP00000392185:A1438T;ENSP00000386635:A1427T;ENSP00000417017:A619T	ENSP00000345075:A1314T	A	+	1	0	MYO7A	76583206	1.000000	0.71417	0.997000	0.53966	0.918000	0.54935	7.490000	0.81461	2.420000	0.82092	0.603000	0.83216	GCC		0.617	MYO7A-001	KNOWN	non_canonical_conserved|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000328133.1	NM_000260		5	9	0	0	0	1	0	5	9					A	76905558	G	A	76905558	3	1	435	1	0	0	0	0	1	0	0	0	10082	1087	38	1	4468	1	MYO7A	11	76905558	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	533993	76905558	58100958	5352	26277											
CLNS1A	1207	broad.mit.edu	37	chr11	77336825	77336825	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttcaacatcatcatcactgtCttcctcttcttcatcagcaa	10	15	2	14	0	9	0	6	0	3	0	10	0	10	0	1	0	2	1	1	0	2	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:77336825C>T	ENST00000525428.1	-	3	391	c.301G>A	c.(301-303)Gac>Aac	p.D101N	CLNS1A_ENST00000528364.1_Missense_Mutation_p.D101N|CLNS1A_ENST00000525064.1_Missense_Mutation_p.D101N|CLNS1A_ENST00000263309.3_Intron|CLNS1A_ENST00000532069.1_Intron	NM_001293.2	NP_001284.1	P54105	ICLN_HUMAN	chloride channel, nucleotide-sensitive, 1A	101					cell volume homeostasis (GO:0006884)|chloride transport (GO:0006821)|gene expression (GO:0010467)|ncRNA metabolic process (GO:0034660)|RNA metabolic process (GO:0016070)|spliceosomal snRNP assembly (GO:0000387)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|methylosome (GO:0034709)|nucleus (GO:0005634)|pICln-Sm protein complex (GO:0034715)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)			breast(1)|large_intestine(1)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	5	all_cancers(14;5.43e-17)|all_epithelial(13;1.78e-19)		Epithelial(5;1.02e-48)|BRCA - Breast invasive adenocarcinoma(5;1.4e-30)			TCATCACTGTCTTCCTCTTCT	0.318																																						ENST00000525428.1																			0				breast(1)|large_intestine(1)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	5						c.(301-303)Gac>Aac		chloride channel, nucleotide-sensitive, 1A							139	114	123					11																	77336825		2200	4292	6492	SO:0001583	missense	1207				blood circulation|cell volume homeostasis|chloride transport|ncRNA metabolic process|spliceosomal snRNP assembly	cytoskeleton|cytosol|nucleus|plasma membrane	protein binding	g.chr11:77336825C>T	U17899	CCDS8252.1	11q13.5-q14	2008-05-02							2080	protein-coding gene	gene with protein product		602158		CLCI		7887970, 8975725	Standard	NM_001293		Approved	ICln	uc001oyk.3	P54105		ENST00000525428.1:c.301G>A	11.37:g.77336825C>T	ENSP00000433919:p.Asp101Asn					CLNS1A_ENST00000532069.1_Intron|CLNS1A_ENST00000525064.1_Missense_Mutation_p.D101N|CLNS1A_ENST00000263309.3_Intron|CLNS1A_ENST00000528364.1_Missense_Mutation_p.D101N	p.D101N	NM_001293.2	NP_001284.1	P54105	ICLN_HUMAN	Epithelial(5;1.02e-48)|BRCA - Breast invasive adenocarcinoma(5;1.4e-30)		3	391	-	all_cancers(14;5.43e-17)|all_epithelial(13;1.78e-19)		101					B2RCS9|Q0VDK6|Q9NRD2|Q9NRD3	Missense_Mutation	SNP	ENST00000525428.1	37	c.301G>A	CCDS8252.1	.	.	.	.	.	.	.	.	.	.	C	17.04	3.286781	0.59867	.	.	ENSG00000074201	ENST00000525428;ENST00000525064;ENST00000528364	T;T;T	0.36340	1.26;1.27;1.26	4.99	4.07	0.47477	.	0.690463	0.15250	N	0.272389	T	0.40322	0.1112	L	0.41124	1.26	0.37644	D	0.92215	P	0.37781	0.608	P	0.49561	0.615	T	0.16630	-1.0396	10	0.12430	T	0.62	-7.429	13.4268	0.61030	0.0:0.9236:0.0:0.0764	.	101	P54105	ICLN_HUMAN	N	101	ENSP00000433919:D101N;ENSP00000433741:D101N;ENSP00000434311:D101N	ENSP00000433741:D101N	D	-	1	0	CLNS1A	77014473	1.000000	0.71417	0.613000	0.29037	0.906000	0.53458	3.945000	0.56637	1.238000	0.43771	0.460000	0.39030	GAC		0.318	CLNS1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382156.2	NM_001293		9	17	0	0	0	1	0	9	17					T	77336825	C	T	77336825	3	4	435	1	0	0	0	0	1	0	0	0	3548	913	32	3	428	3	CLNS1A	11	77336825	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	431267	77336825	57669691	5353	26278											
USP35	57558	broad.mit.edu	37	chr11	77918623	77918623	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgagaacaactcacagccccTgatgaccaagctgcagtggc	12	6	10	13	0	1	3	1	3	0	1	1	4	1	3	3	1	5	2	3	1	3	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:77918623T>G	ENST00000529308.1	+	8	1700	c.1439T>G	c.(1438-1440)cTg>cGg	p.L480R	USP35_ENST00000441408.2_Missense_Mutation_p.L66R|USP35_ENST00000530535.1_Intron|USP35_ENST00000526425.1_Missense_Mutation_p.L211R|USP35_ENST00000530267.1_Missense_Mutation_p.L48R	NM_020798.2	NP_065849.1	Q9P2H5	UBP35_HUMAN	ubiquitin specific peptidase 35	480	USP.				protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitin-specific protease activity (GO:0004843)			endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(3)|urinary_tract(1)	23	all_cancers(14;3.77e-18)|all_epithelial(13;6.16e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.04e-25)			TCACAGCCCCTGATGACCAAG	0.587																																						ENST00000529308.1																			0				endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(3)|urinary_tract(1)	23						c.(1438-1440)cTg>cGg		ubiquitin specific peptidase 35							113	111	112					11																	77918623		2019	4174	6193	SO:0001583	missense	57558				ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr11:77918623T>G	AB037793	CCDS41693.1	11q13.4	2008-02-05	2005-08-08			ENSG00000118369		"Ubiquitin-specific peptidases"	20061	protein-coding gene	gene with protein product			"ubiquitin specific protease 35"			12838346	Standard	NM_020798		Approved	KIAA1372	uc021qny.1	Q9P2H5		ENST00000529308.1:c.1439T>G	11.37:g.77918623T>G	ENSP00000431876:p.Leu480Arg					USP35_ENST00000526425.1_Missense_Mutation_p.L211R|USP35_ENST00000530267.1_Missense_Mutation_p.L48R|USP35_ENST00000441408.2_Missense_Mutation_p.L66R|USP35_ENST00000530535.1_Intron	p.L480R	NM_020798.2	NP_065849.1	Q9P2H5	UBP35_HUMAN	OV - Ovarian serous cystadenocarcinoma(8;1.04e-25)		8	1700	+	all_cancers(14;3.77e-18)|all_epithelial(13;6.16e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		480						Missense_Mutation	SNP	ENST00000529308.1	37	c.1439T>G	CCDS41693.1	.	.	.	.	.	.	.	.	.	.	T	16.19	3.052431	0.55218	.	.	ENSG00000118369	ENST00000530267;ENST00000528910;ENST00000529308;ENST00000441408;ENST00000526425	T;T;T;T;T	0.38722	1.12;1.12;1.12;1.12;1.12	4.83	4.83	0.62350	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.337361	0.20480	N	0.091501	T	0.68924	0.3054	M	0.86953	2.85	0.39950	D	0.974528	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.76517	-0.2930	10	0.87932	D	0	-18.6292	14.5595	0.68126	0.0:0.0:0.0:1.0	.	480;66	Q9P2H5;E7EWV7	UBP35_HUMAN;.	R	48;236;480;66;211	ENSP00000435468:L48R;ENSP00000436001:L236R;ENSP00000431876:L480R;ENSP00000400825:L66R;ENSP00000434942:L211R	ENSP00000400825:L66R	L	+	2	0	USP35	77596271	1.000000	0.71417	0.945000	0.38365	0.882000	0.50991	6.652000	0.74377	2.035000	0.60131	0.482000	0.46254	CTG		0.587	USP35-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390026.1	XM_290527		53	63	0	0	0	1	0	53	63					G	77918623	T	G	77918623	3	3	435	1	0	0	0	0	1	0	0	0	17063	1580	55	5	1465	5	USP35	11	77918623	Missense_Mutation	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	581798	77918623	57087893	5354	26279											
GAB2	9846	broad.mit.edu	37	chr11	77961318	77961318	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agggggttcaaacgtgaacaGagttggctggctggagtgtg	9	9	18	5	1	1	2	1	1	0	1	1	3	1	3	0	5	2	4	0	5	2	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:77961318G>A	ENST00000361507.4	-	3	590	c.505C>T	c.(505-507)Ctg>Ttg	p.L169L	GAB2_ENST00000340149.2_Silent_p.L131L|GAB2_ENST00000526030.1_Intron	NM_080491.2	NP_536739.1	Q9UQC2	GAB2_HUMAN	GRB2-associated binding protein 2	169					cell migration (GO:0016477)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|osteoclast differentiation (GO:0030316)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell proliferation (GO:0008284)|positive regulation of mast cell degranulation (GO:0043306)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)		INTS4/GAB2(2)	NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(8)|ovary(5)|skin(1)|upper_aerodigestive_tract(1)	24	all_cancers(14;3.31e-18)|all_epithelial(13;5.3e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.58e-23)			AACGTGAACAGAGTTGGCTGG	0.582																																						ENST00000361507.4																		INTS4/GAB2(2)	0				NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(8)|ovary(5)|skin(1)|upper_aerodigestive_tract(1)	24						c.(505-507)Ctg>Ttg		GRB2-associated binding protein 2							169	159	163					11																	77961318		2200	4292	6492	SO:0001819	synonymous_variant	9846				osteoclast differentiation|phosphatidylinositol-mediated signaling|positive regulation of cell proliferation|positive regulation of mast cell degranulation	cytosol|plasma membrane	phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|transmembrane receptor protein tyrosine kinase adaptor activity	g.chr11:77961318G>A	AB011143	CCDS8259.1, CCDS8260.1	11q13.4-q13.5	2013-01-10			ENSG00000033327	ENSG00000033327		"Pleckstrin homology (PH) domain containing"	14458	protein-coding gene	gene with protein product	"Grb2-associated binder 2"	606203				10391903, 10068651	Standard	NM_080491		Approved	KIAA0571	uc001ozh.3	Q9UQC2	OTTHUMG00000166673	ENST00000361507.4:c.505C>T	11.37:g.77961318G>A						GAB2_ENST00000526030.1_Intron|GAB2_ENST00000340149.2_Silent_p.L131L	p.L169L	NM_080491.2	NP_536739.1	Q9UQC2	GAB2_HUMAN	OV - Ovarian serous cystadenocarcinoma(8;1.58e-23)		3	590	-	all_cancers(14;3.31e-18)|all_epithelial(13;5.3e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		169					A2RRM2|A6NEW9|A7MD36|O60317	Silent	SNP	ENST00000361507.4	37	c.505C>T	CCDS8259.1																																																																																				0.582	GAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391085.1	NM_080491		32	62	0	0	0	1	0	32	62					A	77961318	G	A	77961318	2	1	435	1	0	0	0	0	0	0	0	1	6149	933	33	3		3	GAB2	11	77961318	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	42695	77961318	57045198	5355	26280											
ODZ4	26011	broad.mit.edu	37	chr11	78468006	78468006	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	taggggagccaaggcacagcGggttgatatggcacaggggc	10	5	18	8	1	0	1	0	1	0	0	0	2	0	2	1	7	2	3	1	7	3	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:78468006G>A	ENST00000278550.7	-	19	3062	c.2600C>T	c.(2599-2601)cCg>cTg	p.P867L	RP11-673F18.1_ENST00000526741.1_RNA	NM_001098816.2	NP_001092286.2	Q6N022	TEN4_HUMAN	teneurin transmembrane protein 4	867					cardiac cell fate specification (GO:0060912)|cardiac muscle cell proliferation (GO:0060038)|central nervous system myelin formation (GO:0032289)|gastrulation with mouth forming second (GO:0001702)|neuron development (GO:0048666)|positive regulation of gastrulation (GO:2000543)|positive regulation of myelination (GO:0031643)|positive regulation of oligodendrocyte differentiation (GO:0048714)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|nucleus (GO:0005634)	protein homodimerization activity (GO:0042803)										AAGGCACAGCGGGTTGATATG	0.547																																						ENST00000278550.7																			0											c.(2599-2601)cCg>cTg		teneurin transmembrane protein 4							61	67	65					11																	78468006		2181	4278	6459	SO:0001583	missense	26011							g.chr11:78468006G>A	AB037723	CCDS44688.1	11q13	2012-10-02	2012-10-02	2012-10-02		ENSG00000149256			29945	protein-coding gene	gene with protein product		610084	"odz, odd Oz/ten-m homolog 4 (Drosophila)"	ODZ4		12000766, 10625539	Standard	NM_001098816		Approved	KIAA1302, Ten-M4	uc001ozl.4	Q6N022		ENST00000278550.7:c.2600C>T	11.37:g.78468006G>A	ENSP00000278550:p.Pro867Leu						p.P867L	NM_001098816.2	NP_001092286.2					19	3062	-								A6ND26|Q7Z3C7|Q96MS6|Q9P2P4|Q9Y4S2	Missense_Mutation	SNP	ENST00000278550.7	37	c.2600C>T	CCDS44688.1	.	.	.	.	.	.	.	.	.	.	G	10.10	1.258576	0.23051	.	.	ENSG00000149256	ENST00000278550	T	0.10860	2.83	5.26	4.36	0.52297	.	0.294558	0.33631	N	0.004719	T	0.10208	0.0250	L	0.41710	1.295	0.26159	N	0.980021	B	0.18461	0.028	B	0.09377	0.004	T	0.16571	-1.0398	9	.	.	.	.	14.253	0.66033	0.0713:0.0:0.9287:0.0	.	867	Q6N022	TEN4_HUMAN	L	867	ENSP00000278550:P867L	.	P	-	2	0	ODZ4	78145654	0.986000	0.35501	0.923000	0.36655	0.512000	0.34134	3.271000	0.51608	1.468000	0.48064	-0.214000	0.12660	CCG		0.547	TENM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391406.2			4	16	0	0	0	1	0	4	16					A	78468006	G	A	78468006	3	1	435	1	0	0	0	0	1	0	0	0	10837	1116	39	2	5773	2	ODZ4	11	78468006	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	506688	78468006	56538510	5356	26281											
RAB30	27314	broad.mit.edu	37	chr11	82698794	82698794	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccgaaatctctcttgacctgCtgtgtcccagatctgtagct	7	13	8	13	1	3	2	0	1	3	1	5	3	4	2	3	0	2	3	3	0	2	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:82698794C>T	ENST00000533486.1	-	5	480	c.196G>A	c.(196-198)Gca>Aca	p.A66T	RAB30_ENST00000260056.2_Missense_Mutation_p.A66T|RAB30_ENST00000525117.1_Missense_Mutation_p.A38T|RAB30_ENST00000527633.1_Missense_Mutation_p.A66T|RAB30_ENST00000532548.1_Missense_Mutation_p.A66T|RAB30_ENST00000534141.1_Missense_Mutation_p.A66T|RP11-659G9.3_ENST00000527550.1_RNA	NM_014488.3	NP_055303.2	Q15771	RAB30_HUMAN	RAB30, member RAS oncogene family	66					Golgi organization (GO:0007030)|GTP catabolic process (GO:0006184)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	cis-Golgi network (GO:0005801)|Golgi cisterna (GO:0031985)|Golgi stack (GO:0005795)|membrane (GO:0016020)|trans-Golgi network (GO:0005802)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	13						TCTTGACCTGCTGTGTCCCAG	0.443																																						ENST00000533486.1																			0				endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	13						c.(196-198)Gca>Aca		RAB30, member RAS oncogene family							143	142	142					11																	82698794		2203	4300	6503	SO:0001583	missense	27314				protein transport|small GTPase mediated signal transduction	Golgi stack|plasma membrane	GTP binding|GTPase activity	g.chr11:82698794C>T	U57092	CCDS8264.1	11q12-q14	2008-07-21				ENSG00000137502		"RAB, member RAS oncogene"	9770	protein-coding gene	gene with protein product		605693				8863739, 9792283	Standard	NM_014488		Approved		uc001ozu.3	Q15771		ENST00000533486.1:c.196G>A	11.37:g.82698794C>T	ENSP00000435189:p.Ala66Thr					RAB30_ENST00000534141.1_Missense_Mutation_p.A66T|RAB30_ENST00000532548.1_Missense_Mutation_p.A66T|RAB30_ENST00000527633.1_Missense_Mutation_p.A66T|RP11-659G9.3_ENST00000527550.1_RNA|RAB30_ENST00000525117.1_Missense_Mutation_p.A38T|RAB30_ENST00000260056.2_Missense_Mutation_p.A66T	p.A66T	NM_014488.3	NP_055303.2	Q15771	RAB30_HUMAN			5	480	-			66					Q6FGK1|Q6MZH2|Q96CI8	Missense_Mutation	SNP	ENST00000533486.1	37	c.196G>A	CCDS8264.1	.	.	.	.	.	.	.	.	.	.	C	36	5.720259	0.96839	.	.	ENSG00000137502	ENST00000533486;ENST00000534141;ENST00000260056;ENST00000533014;ENST00000527633;ENST00000531021;ENST00000534301;ENST00000525117;ENST00000532548;ENST00000524635;ENST00000526205;ENST00000534103	D;D;D;D;D;D;D;D;D;D;D;D	0.88741	-2.42;-2.42;-2.42;-2.42;-2.42;-2.42;-2.42;-2.42;-2.42;-2.42;-2.42;-2.42	6.04	6.04	0.98038	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.96747	0.8938	H	0.96269	3.795	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;0.999;1.0	D	0.97092	0.9791	9	.	.	.	.	20.5948	0.99439	0.0:1.0:0.0:0.0	.	38;66;66	E9PLM3;Q6MZH2;Q15771	.;.;RAB30_HUMAN	T	66;66;66;30;66;66;66;38;66;20;66;66	ENSP00000435189:A66T;ENSP00000434974:A66T;ENSP00000260056:A66T;ENSP00000433832:A30T;ENSP00000435089:A66T;ENSP00000434953:A66T;ENSP00000432193:A66T;ENSP00000433243:A38T;ENSP00000437235:A66T;ENSP00000436587:A20T;ENSP00000432336:A66T;ENSP00000435542:A66T	.	A	-	1	0	RAB30	82376442	1.000000	0.71417	0.998000	0.56505	0.995000	0.86356	7.818000	0.86416	2.873000	0.98535	0.563000	0.77884	GCA		0.443	RAB30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392141.1	NM_014488		21	28	0	0	0	1	0	21	28					T	82698794	C	T	82698794	3	4	435	1	0	0	0	0	1	0	0	0	12919	797	28	3	423	3	RAB30	11	82698794	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	4230788	82698794	52307722	5357	26282											
PCF11	51585	broad.mit.edu	37	chr11	82879713	82879713	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	acccaataaattaagccctcGaattgatggacctcccacac	14	8	5	14	1	0	1	0	1	0	0	2	3	1	2	4	1	1	0	4	1	5	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:82879713G>A	ENST00000298281.4	+	8	2788	c.2336G>A	c.(2335-2337)cGa>cAa	p.R779Q		NM_015885.3	NP_056969.2	O94913	PCF11_HUMAN	PCF11 cleavage and polyadenylation factor subunit	779	Gly-rich.				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA cleavage (GO:0006379)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	mRNA cleavage factor complex (GO:0005849)|nucleoplasm (GO:0005654)				cervix(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(22)|ovary(1)|urinary_tract(1)	33						TTAAGCCCTCGAATTGATGGA	0.502																																						ENST00000298281.4																			0				cervix(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(22)|ovary(1)|urinary_tract(1)	33						c.(2335-2337)cGa>cAa		PCF11 cleavage and polyadenylation factor subunit							95	90	92					11																	82879713		1882	4114	5996	SO:0001583	missense	51585				mRNA 3'-end processing|mRNA cleavage|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage factor complex		g.chr11:82879713G>A	AB020631	CCDS44689.1	11q13	2013-07-02	2013-07-02		ENSG00000165494	ENSG00000165494			30097	protein-coding gene	gene with protein product		608876	"PCF11, cleavage and polyadenylation factor II subunit, homolog (S. cerevisiae)", "PCF11, cleavage and polyadenylation factor subunit, homolog (S. cerevisiae)"			11060040	Standard	NM_015885		Approved	KIAA0824	uc001ozx.4	O94913	OTTHUMG00000167031	ENST00000298281.4:c.2336G>A	11.37:g.82879713G>A	ENSP00000298281:p.Arg779Gln						p.R779Q	NM_015885.3	NP_056969.2	O94913	PCF11_HUMAN			8	2788	+			779			Gly-rich.		A6H8W7|O43671|Q6P0X8	Missense_Mutation	SNP	ENST00000298281.4	37	c.2336G>A	CCDS44689.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.137163	0.77775	.	.	ENSG00000165494	ENST00000298281;ENST00000530660;ENST00000530304	T;T;T	0.59638	1.61;0.43;0.25	6.16	6.16	0.99307	.	0.000000	0.64402	D	0.000004	T	0.60104	0.2243	L	0.38531	1.155	0.42832	D	0.994027	D;D	0.61697	0.99;0.99	P;P	0.50049	0.629;0.629	T	0.54022	-0.8355	9	.	.	.	.	20.8598	0.99761	0.0:0.0:1.0:0.0	.	910;779	E9PQ01;O94913	.;PCF11_HUMAN	Q	779;910;779	ENSP00000298281:R779Q;ENSP00000434540:R910Q;ENSP00000431567:R779Q	.	R	+	2	0	PCF11	82557361	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.102000	0.77005	2.937000	0.99478	0.650000	0.86243	CGA		0.502	PCF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392548.2	NM_015885		16	28	0	0	0	1	0	16	28					A	82879713	G	A	82879713	3	1	435	1	0	0	0	0	1	0	0	0	11573	1058	37	2	2366	2	PCF11	11	82879713	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	180919	82879713	52126803	5358	26283											
PCF11	51585	broad.mit.edu	37	chr11	82880022	82880022	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgaggtttgagggacatcGtggtcaacctgtgggtggtc	6	12	16	7	1	2	2	1	2	1	0	4	3	2	3	1	5	1	1	1	5	1	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:82880022G>A	ENST00000298281.4	+	8	3097	c.2645G>A	c.(2644-2646)cGt>cAt	p.R882H		NM_015885.3	NP_056969.2	O94913	PCF11_HUMAN	PCF11 cleavage and polyadenylation factor subunit	882	Gly-rich.				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA cleavage (GO:0006379)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	mRNA cleavage factor complex (GO:0005849)|nucleoplasm (GO:0005654)				cervix(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(22)|ovary(1)|urinary_tract(1)	33						GAGGGACATCGTGGTCAACCT	0.552																																						ENST00000298281.4																			0				cervix(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(22)|ovary(1)|urinary_tract(1)	33						c.(2644-2646)cGt>cAt		PCF11 cleavage and polyadenylation factor subunit							65	65	65					11																	82880022		1949	4143	6092	SO:0001583	missense	51585				mRNA 3'-end processing|mRNA cleavage|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage factor complex		g.chr11:82880022G>A	AB020631	CCDS44689.1	11q13	2013-07-02	2013-07-02		ENSG00000165494	ENSG00000165494			30097	protein-coding gene	gene with protein product		608876	"PCF11, cleavage and polyadenylation factor II subunit, homolog (S. cerevisiae)", "PCF11, cleavage and polyadenylation factor subunit, homolog (S. cerevisiae)"			11060040	Standard	NM_015885		Approved	KIAA0824	uc001ozx.4	O94913	OTTHUMG00000167031	ENST00000298281.4:c.2645G>A	11.37:g.82880022G>A	ENSP00000298281:p.Arg882His						p.R882H	NM_015885.3	NP_056969.2	O94913	PCF11_HUMAN			8	3097	+			882			Gly-rich.		A6H8W7|O43671|Q6P0X8	Missense_Mutation	SNP	ENST00000298281.4	37	c.2645G>A	CCDS44689.1	.	.	.	.	.	.	.	.	.	.	G	14.03	2.415218	0.42817	.	.	ENSG00000165494	ENST00000298281	T	0.22743	1.94	6.17	6.17	0.99709	.	0.000000	0.64402	D	0.000019	T	0.28466	0.0704	L	0.58101	1.795	0.32875	D	0.509775	D	0.67145	0.996	P	0.49502	0.613	T	0.40175	-0.9577	9	.	.	.	-11.3461	10.5381	0.45016	0.0708:0.134:0.7952:0.0	.	882	O94913	PCF11_HUMAN	H	882	ENSP00000298281:R882H	.	R	+	2	0	PCF11	82557670	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.173000	0.42472	2.941000	0.99782	0.655000	0.94253	CGT		0.552	PCF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392548.2	NM_015885		24	30	0	0	0	1	0	24	30					A	82880022	G	A	82880022	3	1	435	1	0	0	0	0	1	0	0	0	11573	1145	40	1	2675	1	PCF11	11	82880022	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	309	82880022	52126494	5359	26284											
EED	8726	broad.mit.edu	37	chr11	85988974	85988974	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atacagatgcttgcattgggCaatcaagttggcaaacttta	13	12	9	7	0	1	1	1	0	0	1	1	1	1	1	0	2	4	5	0	2	5	6			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:85988974C>T	ENST00000263360.6	+	11	1826	c.1140C>T	c.(1138-1140)ggC>ggT	p.G380G	EED_ENST00000527888.1_Silent_p.G45G|EED_ENST00000351625.6_Silent_p.G405G|EED_ENST00000528180.1_Silent_p.G300G|EED_ENST00000327320.4_Silent_p.G380G	NM_003797.3	NP_003788.2	O75530	EED_HUMAN	embryonic ectoderm development	380	Interaction with EZH2. {ECO:0000250}.|Required for interaction with the matrix protein MA of HIV-1.				negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of histone H3-K27 methylation (GO:0061087)|regulation of gene expression by genetic imprinting (GO:0006349)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|ESC/E(Z) complex (GO:0035098)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|pronucleus (GO:0045120)|sex chromatin (GO:0001739)	chromatin binding (GO:0003682)|histone methyltransferase activity (GO:0042054)|identical protein binding (GO:0042802)			haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	21		Acute lymphoblastic leukemia(157;7.24e-07)|all_hematologic(158;0.00092)				TTGCATTGGGCAATCAAGTTG	0.313																																						ENST00000263360.6																			0				haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	21						c.(1138-1140)ggC>ggT		embryonic ectoderm development							77	84	82					11																	85988974		2201	4298	6499	SO:0001819	synonymous_variant	8726				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex	histone methyltransferase activity|identical protein binding	g.chr11:85988974C>T	AF078933	CCDS8273.1, CCDS8274.1	11q14.2-q22.3	2013-01-10			ENSG00000074266	ENSG00000074266		"WD repeat domain containing"	3188	protein-coding gene	gene with protein product	"WD protein associating with integrin cytoplasmic tails 1"	605984				9765275, 9806832	Standard	NM_003797		Approved	WAIT-1, HEED	uc001pbp.3	O75530	OTTHUMG00000167209	ENST00000263360.6:c.1140C>T	11.37:g.85988974C>T						EED_ENST00000327320.4_Silent_p.G380G|EED_ENST00000527888.1_Silent_p.G45G|EED_ENST00000351625.6_Silent_p.G405G|EED_ENST00000528180.1_Silent_p.G300G	p.G380G	NM_003797.3	NP_003788.2	O75530	EED_HUMAN			11	1826	+		Acute lymphoblastic leukemia(157;7.24e-07)|all_hematologic(158;0.00092)	380			Interaction with EZH2 (By similarity).|Required for interaction with the matrix protein MA of HIV-1.		A8K7V5|O00149|Q6NTH2|Q7LDA5|Q7LDG8|Q86VV2|Q9UNY7	Silent	SNP	ENST00000263360.6	37	c.1140C>T	CCDS8273.1	.	.	.	.	.	.	.	.	.	.	C	9.714	1.157813	0.21454	.	.	ENSG00000074266	ENST00000534595	.	.	.	5.22	5.22	0.72569	.	.	.	.	.	T	0.50034	0.1592	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.49143	-0.8970	4	.	.	.	-9.95	5.2748	0.15643	0.0:0.6356:0.1753:0.1892	.	.	.	.	V	95	.	.	A	+	2	0	EED	85666622	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.100000	0.31025	2.609000	0.88269	0.591000	0.81541	GCA		0.313	EED-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393733.1	NM_003797		32	61	0	0	0	1	0	32	61					T	85988974	C	T	85988974	2	4	435	1	0	0	0	0	0	0	0	1	4922	697	25	3		3	EED	11	85988974	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	3108952	85988974	49017542	5360	26285											
PRSS23	11098	broad.mit.edu	37	chr11	86519563	86519563	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	accaggcaatttggtgtatcGcttctgtgacgtcaaagacg	10	11	11	9	3	2	2	1	1	1	1	3	2	2	2	1	2	0	3	1	2	3	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:86519563G>A	ENST00000280258.5	+	2	1303	c.878G>A	c.(877-879)cGc>cAc	p.R293H	PRSS23_ENST00000441050.1_Missense_Mutation_p.R261H|PRSS23_ENST00000533902.2_Intron	NM_007173.4	NP_009104.1	O95084	PRS23_HUMAN	protease, serine, 23	293						extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	serine-type endopeptidase activity (GO:0004252)	p.R293H(1)		central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(9)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	18		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				TTGGTGTATCGCTTCTGTGAC	0.537																																						ENST00000280258.5																			1	Substitution - Missense(1)	p.R293H(1)	large_intestine(1)	central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(9)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	18						c.(877-879)cGc>cAc		protease, serine, 23							101	103	102					11																	86519563		2201	4299	6500	SO:0001583	missense	11098				proteolysis	extracellular region|nucleus	serine-type endopeptidase activity	g.chr11:86519563G>A	AF015287	CCDS8278.1	11q14.2	2010-05-12			ENSG00000150687	ENSG00000150687		"Serine peptidases / Serine peptidases"	14370	protein-coding gene	gene with protein product							Standard	XM_005273727		Approved	SPUVE, SIG13	uc001pcb.3	O95084		ENST00000280258.5:c.878G>A	11.37:g.86519563G>A	ENSP00000280258:p.Arg293His					PRSS23_ENST00000441050.1_Missense_Mutation_p.R261H|PRSS23_ENST00000533902.2_Intron	p.R293H	NM_007173.4	NP_009104.1	O95084	PRS23_HUMAN			2	1303	+		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)	293					B2RDJ1|B4E2J3|Q6IBI0	Missense_Mutation	SNP	ENST00000280258.5	37	c.878G>A	CCDS8278.1	.	.	.	.	.	.	.	.	.	.	G	28.9	4.964155	0.92791	.	.	ENSG00000150687	ENST00000280258;ENST00000441050	T;T	0.43294	0.95;0.95	6.17	6.17	0.99709	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (1);	0.000000	0.85682	D	0.000000	T	0.72036	0.3411	M	0.87758	2.905	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.72714	-0.4210	9	.	.	.	-27.4484	20.8794	0.99867	0.0:0.0:1.0:0.0	.	261;293	B4E2J3;O95084	.;PRS23_HUMAN	H	293;261	ENSP00000280258:R293H;ENSP00000393015:R261H	.	R	+	2	0	PRSS23	86197211	1.000000	0.71417	1.000000	0.80357	0.920000	0.55202	9.357000	0.97099	2.941000	0.99782	0.655000	0.94253	CGC		0.537	PRSS23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393805.2	NM_007173		12	63	0	0	0	1	0	12	63					A	86519563	G	A	86519563	3	1	435	1	0	0	0	0	1	0	0	0	12620	1087	38	1	880	1	PRSS23	11	86519563	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	530589	86519563	48486953	5361	26286											
FZD4	8322	broad.mit.edu	37	chr11	86662967	86662967	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	aaatcacaggatatcctttcCcggcctacagtcagcctgac	11	9	7	14	1	2	1	2	1	0	0	4	2	4	2	4	2	2	0	4	2	3	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:86662967C>T	ENST00000531380.1	-	2	1136	c.831G>A	c.(829-831)cgG>cgA	p.R277R	PRSS23_ENST00000533902.2_3'UTR	NM_012193.3	NP_036325.2	Q9ULV1	FZD4_HUMAN	frizzled class receptor 4	277					brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|cellular response to retinoic acid (GO:0071300)|cerebellum vasculature morphogenesis (GO:0061301)|extracellular matrix-cell signaling (GO:0035426)|locomotion involved in locomotory behavior (GO:0031987)|negative regulation of cell-substrate adhesion (GO:0010812)|neuron differentiation (GO:0030182)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription, DNA-templated (GO:0045893)|progesterone secretion (GO:0042701)|regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030947)|retina vasculature morphogenesis in camera-type eye (GO:0061299)|retinal blood vessel morphogenesis (GO:0061304)|sensory perception of sound (GO:0007605)|substrate adhesion-dependent cell spreading (GO:0034446)|vasculogenesis (GO:0001570)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway, calcium modulating pathway (GO:0007223)	cell projection (GO:0042995)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cytokine binding (GO:0019955)|G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			breast(1)|kidney(1)|large_intestine(3)|lung(9)|prostate(6)|skin(1)	21		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				ATATCCTTTCCCGGCCTACAG	0.408																																						ENST00000531380.1																			0				breast(1)|kidney(1)|large_intestine(3)|lung(9)|prostate(6)|skin(1)	21						c.(829-831)cgG>cgA		frizzled family receptor 4							34	35	34					11																	86662967		2201	4299	6500	SO:0001819	synonymous_variant	8322				canonical Wnt receptor signaling pathway|cellular response to retinoic acid|embryo development|negative regulation of cell-substrate adhesion|neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|progesterone secretion|regulation of vascular endothelial growth factor receptor signaling pathway|substrate adhesion-dependent cell spreading|vasculogenesis|Wnt receptor signaling pathway, calcium modulating pathway	cell projection|cell surface|cytoplasm	cytokine binding|G-protein coupled receptor activity|PDZ domain binding|protein heterodimerization activity|protein homodimerization activity|Wnt receptor activity|Wnt-protein binding	g.chr11:86662967C>T	AB032417	CCDS8279.1	11q14-q21	2014-01-29	2014-01-29			ENSG00000174804		"GPCR / Class F : Frizzled receptors", "CD molecules"	4042	protein-coding gene	gene with protein product		604579	"frizzled (Drosophila) homolog 4", "exudative vitreoretinopathy 1", "frizzled homolog 4 (Drosophila)", "frizzled 4, seven transmembrane spanning receptor", "frizzled family receptor 4"	EVR1		10544037, 15024691	Standard	NM_012193		Approved	CD344	uc001pce.3	Q9ULV1		ENST00000531380.1:c.831G>A	11.37:g.86662967C>T						PRSS23_ENST00000533902.2_3'UTR	p.R277R	NM_012193.3	NP_036325.2	Q9ULV1	FZD4_HUMAN			2	1136	-		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)	277					A8K9Q3|Q14C97|Q6S9E4	Silent	SNP	ENST00000531380.1	37	c.831G>A	CCDS8279.1																																																																																				0.408	FZD4-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393818.2	NM_012193		15	14	0	0	0	1	0	15	14					T	86662967	C	T	86662967	2	4	435	1	0	0	0	0	0	0	0	1	6132	610	22	3		3	FZD4	11	86662967	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	143404	86662967	48343549	5362	26287											
GRM5	2915	broad.mit.edu	37	chr11	88300321	88300321	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gccatcccctacatgcatgcGcaccacggtagatgtggtga	9	8	11	13	2	0	2	0	1	0	1	1	2	1	2	4	2	3	3	4	2	2	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:88300321G>A	ENST00000305447.4	-	7	2679	c.2530C>T	c.(2530-2532)Cgc>Tgc	p.R844C	GRM5_ENST00000455756.2_Missense_Mutation_p.R844C|GRM5_ENST00000418177.2_Missense_Mutation_p.R844C|GRM5_ENST00000305432.5_Missense_Mutation_p.R844C|GRM5_ENST00000393297.1_Missense_Mutation_p.R844C	NM_001143831.2	NP_001137303.1	P41594	GRM5_HUMAN	glutamate receptor, metabotropic 5	844					activation of MAPKKK activity (GO:0000185)|cognition (GO:0050890)|desensitization of G-protein coupled receptor protein signaling pathway (GO:0002029)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|learning (GO:0007612)|locomotory behavior (GO:0007626)|negative regulation of locomotion (GO:0040013)|phospholipase C-activating G-protein coupled glutamate receptor signaling pathway (GO:0007206)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein phosphorylation (GO:0006468)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of transcription, DNA-templated (GO:0006355)|synaptic transmission (GO:0007268)	astrocyte projection (GO:0097449)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)	p.R844S(2)		NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)			Acamprosate(DB00659)|Rufinamide(DB06201)	ACATGCATGCGCACCACGGTA	0.572																																						ENST00000418177.2																			2	Substitution - Missense(2)	p.R844S(2)	lung(2)	NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90						c.(2530-2532)Cgc>Tgc		glutamate receptor, metabotropic 5	Acamprosate(DB00659)						126	101	110					11																	88300321		2201	4299	6500	SO:0001583	missense	2915				activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	g.chr11:88300321G>A	D28538	CCDS8283.1, CCDS44694.1	11q14.3	2014-06-12			ENSG00000168959	ENSG00000168959		"GPCR / Class C : Glutamate receptors, metabotropic", "Glutamate receptors"	4597	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 86"	604102				7908515	Standard	NM_001143831		Approved	MGLUR5, GPRC1E, mGlu5, PPP1R86	uc001pcq.3	P41594	OTTHUMG00000134306	ENST00000305447.4:c.2530C>T	11.37:g.88300321G>A	ENSP00000306138:p.Arg844Cys					GRM5_ENST00000455756.2_Missense_Mutation_p.R844C|GRM5_ENST00000305432.5_Missense_Mutation_p.R844C|GRM5_ENST00000305447.4_Missense_Mutation_p.R844C|GRM5_ENST00000393297.1_Missense_Mutation_p.R844C	p.R844C			P41594	GRM5_HUMAN			8	2897	-		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)	844					Q6J164	Missense_Mutation	SNP	ENST00000305447.4	37	c.2530C>T	CCDS44694.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.084656	0.76642	.	.	ENSG00000168959	ENST00000418177;ENST00000455756;ENST00000305432;ENST00000305447;ENST00000393297	D;D;D;D;D	0.89415	-2.5;-2.47;-2.47;-2.5;-2.51	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	D	0.93996	0.8077	M	0.65975	2.015	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.925	D	0.92863	0.6307	9	.	.	.	.	19.8631	0.96790	0.0:0.0:1.0:0.0	.	844;844	P41594-2;P41594	.;GRM5_HUMAN	C	844	ENSP00000402912:R844C;ENSP00000405690:R844C;ENSP00000305905:R844C;ENSP00000306138:R844C;ENSP00000376975:R844C	.	R	-	1	0	GRM5	87939969	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	7.973000	0.88032	2.709000	0.92574	0.655000	0.94253	CGC		0.572	GRM5-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000259226.1	NM_000842		27	42	0	0	0	1	0	27	42					A	88300321	G	A	88300321	3	1	435	1	0	0	0	0	1	0	0	0	6800	1087	38	1	1120	1	GRM5	11	88300321	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	1637354	88300321	46706195	5363	26288											
GRM5	2915	broad.mit.edu	37	chr11	88300528	88300528	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtcgtgtacattgtgaaggCgatatacttggcctcgttga	8	13	13	7	3	0	2	0	2	0	0	2	3	0	2	1	3	2	2	1	3	4	6			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:88300528C>T	ENST00000305447.4	-	7	2472	c.2323G>A	c.(2323-2325)Gcc>Acc	p.A775T	GRM5_ENST00000455756.2_Missense_Mutation_p.A775T|GRM5_ENST00000418177.2_Missense_Mutation_p.A775T|GRM5_ENST00000305432.5_Missense_Mutation_p.A775T|GRM5_ENST00000393297.1_Missense_Mutation_p.A775T	NM_001143831.2	NP_001137303.1	P41594	GRM5_HUMAN	glutamate receptor, metabotropic 5	775					activation of MAPKKK activity (GO:0000185)|cognition (GO:0050890)|desensitization of G-protein coupled receptor protein signaling pathway (GO:0002029)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|learning (GO:0007612)|locomotory behavior (GO:0007626)|negative regulation of locomotion (GO:0040013)|phospholipase C-activating G-protein coupled glutamate receptor signaling pathway (GO:0007206)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein phosphorylation (GO:0006468)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of transcription, DNA-templated (GO:0006355)|synaptic transmission (GO:0007268)	astrocyte projection (GO:0097449)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)			NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)			Acamprosate(DB00659)|Rufinamide(DB06201)	ATTGTGAAGGCGATATACTTG	0.438																																						ENST00000418177.2																			0				NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90						c.(2323-2325)Gcc>Acc		glutamate receptor, metabotropic 5	Acamprosate(DB00659)						188	168	175					11																	88300528		2201	4299	6500	SO:0001583	missense	2915				activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	g.chr11:88300528C>T	D28538	CCDS8283.1, CCDS44694.1	11q14.3	2014-06-12			ENSG00000168959	ENSG00000168959		"GPCR / Class C : Glutamate receptors, metabotropic", "Glutamate receptors"	4597	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 86"	604102				7908515	Standard	NM_001143831		Approved	MGLUR5, GPRC1E, mGlu5, PPP1R86	uc001pcq.3	P41594	OTTHUMG00000134306	ENST00000305447.4:c.2323G>A	11.37:g.88300528C>T	ENSP00000306138:p.Ala775Thr					GRM5_ENST00000455756.2_Missense_Mutation_p.A775T|GRM5_ENST00000305432.5_Missense_Mutation_p.A775T|GRM5_ENST00000305447.4_Missense_Mutation_p.A775T|GRM5_ENST00000393297.1_Missense_Mutation_p.A775T	p.A775T			P41594	GRM5_HUMAN			8	2690	-		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)	775					Q6J164	Missense_Mutation	SNP	ENST00000305447.4	37	c.2323G>A	CCDS44694.1	.	.	.	.	.	.	.	.	.	.	C	28.0	4.879468	0.91740	.	.	ENSG00000168959	ENST00000418177;ENST00000455756;ENST00000305432;ENST00000305447;ENST00000393297	D;D;D;D;D	0.86627	-2.15;-2.15;-2.15;-2.15;-2.15	5.58	5.58	0.84498	GPCR, family 3, conserved site (1);GPCR, family 3, C-terminal (2);	0.000000	0.85682	D	0.000000	D	0.84083	0.5394	N	0.01817	-0.705	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.996;0.997	D	0.85354	0.1103	9	.	.	.	.	19.5629	0.95380	0.0:1.0:0.0:0.0	.	775;775	P41594-2;P41594	.;GRM5_HUMAN	T	775	ENSP00000402912:A775T;ENSP00000405690:A775T;ENSP00000305905:A775T;ENSP00000306138:A775T;ENSP00000376975:A775T	.	A	-	1	0	GRM5	87940176	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	7.798000	0.85924	2.640000	0.89533	0.561000	0.74099	GCC		0.438	GRM5-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000259226.1	NM_000842		40	76	0	0	0	1	0	40	76					T	88300528	C	T	88300528	3	4	435	1	0	0	0	0	1	0	0	0	6800	768	27	1	1327	1	GRM5	11	88300528	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	207	88300528	46705988	5364	26289											
TRIM49	57093	broad.mit.edu	37	chr11	89531657	89531657	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tttgcccgaggtgaaagtctGaacaccccatgcaagaaaac	14	7	9	11	1	1	3	0	2	1	1	1	4	1	3	3	1	4	1	3	1	5	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:89531657G>A	ENST00000329758.1	-	8	1328	c.1000C>T	c.(1000-1002)Cag>Tag	p.Q334*	TRIM49_ENST00000532501.2_Nonsense_Mutation_p.Q257*	NM_020358.2	NP_065091.1	P0CI25	TRI49_HUMAN	tripartite motif containing 49	334	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.					intracellular (GO:0005622)	zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(1)|lung(14)|prostate(1)|skin(2)|stomach(1)	27		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)				GTGAAAGTCTGAACACCCCAT	0.423																																						ENST00000329758.1																			0				breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(1)|lung(14)|prostate(1)|skin(2)|stomach(1)	27						c.(1000-1002)Cag>Tag		tripartite motif containing 49							14	18	17					11																	89531657		2022	4196	6218	SO:0001587	stop_gained	57093					intracellular	zinc ion binding	g.chr11:89531657G>A	AB037682	CCDS8287.1	11p11.12-q12	2012-05-21	2011-01-25	2004-11-17	ENSG00000168930	ENSG00000168930		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	13431	protein-coding gene	gene with protein product		606124	"ring finger protein 18", "tripartite motif-containing 49"	RNF18		11018261	Standard	NM_020358		Approved	TRIM49A	uc001pdb.3	P0CI25		ENST00000329758.1:c.1000C>T	11.37:g.89531657G>A	ENSP00000327604:p.Gln334*					TRIM49_ENST00000532501.2_Nonsense_Mutation_p.Q257*	p.Q334*	NM_020358.2	NP_065091.1	P0CI25	TRI49_HUMAN			8	1328	-		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)	334			B30.2/SPRY.		A0AVR7|A0AVR9|Q6DJV1|Q9NS80	Nonsense_Mutation	SNP	ENST00000329758.1	37	c.1000C>T	CCDS8287.1	.	.	.	.	.	.	.	.	.	.	G	10.92	1.485956	0.26686	.	.	ENSG00000168930	ENST00000329758;ENST00000532501	.	.	.	0.812	-0.483	0.12075	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.3455	0.11131	0.0:0.4327:0.5673:0.0	.	.	.	.	X	334;257	.	.	Q	-	1	0	TRIM49	89171305	.	.	0.002000	0.10522	0.014000	0.08584	.	.	-0.143000	0.11334	0.194000	0.17425	CAG		0.423	TRIM49-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395435.1	NM_020358		4	51	0	0	0	1	0	4	51					A	89531657	G	A	89531657	4	1	435	1	0	0	0	0	0	1	0	0	16521	1299	45	3	362	3	TRIM49	11	89531657	Nonsense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	1231129	89531657	45474859	5365	26290											
FAT3	120114	broad.mit.edu	37	chr11	92534270	92534270	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcattcctgtctatatccaCgtcttgccccctgaaacgtt	7	14	5	15	2	3	1	1	1	2	0	5	1	5	1	4	0	2	1	4	0	3	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:92534270C>T	ENST00000298047.6	+	9	8108	c.8091C>T	c.(8089-8091)caC>caT	p.H2697H	FAT3_ENST00000409404.2_Silent_p.H2697H|FAT3_ENST00000525166.1_Silent_p.H2547H			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	2697	Cadherin 24. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.H2697Q(4)		NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				TCTATATCCACGTCTTGCCCC	0.458										TCGA Ovarian(4;0.039)																												ENST00000298047.6																			4	Substitution - Missense(4)	p.H2697Q(4)	lung(4)	NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85						c.(8089-8091)caC>caT		FAT atypical cadherin 3							69	66	67					11																	92534270		1951	4148	6099	SO:0001819	synonymous_variant	120114				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr11:92534270C>T	AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"Cadherins / Cadherin-related"	23112	protein-coding gene	gene with protein product	"cadherin-related family member 10"	612483	"FAT tumor suppressor homolog 3 (Drosophila)"			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.8091C>T	11.37:g.92534270C>T		TCGA Ovarian(4;0.039)				FAT3_ENST00000409404.2_Silent_p.H2697H|FAT3_ENST00000525166.1_Silent_p.H2547H	p.H2697H			Q8TDW7	FAT3_HUMAN			9	8108	+		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)	2697			Cadherin 24.		B5MDB0|Q96AU6	Silent	SNP	ENST00000298047.6	37	c.8091C>T																																																																																					0.458	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781		10	20	0	0	0	1	0	10	20					T	92534270	C	T	92534270	2	4	435	1	0	0	0	0	0	0	0	1	5691	535	19	1		1	FAT3	11	92534270	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	3002613	92534270	42472246	5366	26291											
FAT3	120114	broad.mit.edu	37	chr11	92534794	92534794	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attcaatattgacagcaacaCgggctggatcagtaccttga	13	10	9	9	1	2	2	2	2	0	0	2	3	2	3	1	2	3	3	1	2	4	5	rs202096902		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:92534794C>T	ENST00000298047.6	+	9	8632	c.8615C>T	c.(8614-8616)aCg>aTg	p.T2872M	FAT3_ENST00000409404.2_Missense_Mutation_p.T2872M|FAT3_ENST00000525166.1_Missense_Mutation_p.T2722M			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	2872	Cadherin 26. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				GACAGCAACACGGGCTGGATC	0.507										TCGA Ovarian(4;0.039)																												ENST00000298047.6																			0				NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85						c.(8614-8616)aCg>aTg		FAT atypical cadherin 3							82	84	83					11																	92534794		2060	4199	6259	SO:0001583	missense	120114				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr11:92534794C>T	AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"Cadherins / Cadherin-related"	23112	protein-coding gene	gene with protein product	"cadherin-related family member 10"	612483	"FAT tumor suppressor homolog 3 (Drosophila)"			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.8615C>T	11.37:g.92534794C>T	ENSP00000298047:p.Thr2872Met	TCGA Ovarian(4;0.039)				FAT3_ENST00000409404.2_Missense_Mutation_p.T2872M|FAT3_ENST00000525166.1_Missense_Mutation_p.T2722M	p.T2872M			Q8TDW7	FAT3_HUMAN			9	8632	+		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)	2872			Cadherin 26.		B5MDB0|Q96AU6	Missense_Mutation	SNP	ENST00000298047.6	37	c.8615C>T		.	.	.	.	.	.	.	.	.	.	C	16.90	3.251187	0.59212	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000525166	T;T;T	0.01787	4.64;4.64;4.64	6.04	5.08	0.68730	.	.	.	.	.	T	0.11495	0.0280	M	0.90019	3.08	0.80722	D	1	D	0.89917	1.0	P	0.61201	0.885	T	0.00022	-1.2336	9	0.87932	D	0	.	14.1383	0.65303	0.0:0.6913:0.3087:0.0	.	2872	Q8TDW7-3	.	M	2872;2872;2722	ENSP00000298047:T2872M;ENSP00000387040:T2872M;ENSP00000432586:T2722M	ENSP00000298047:T2872M	T	+	2	0	FAT3	92174442	1.000000	0.71417	0.999000	0.59377	0.972000	0.66771	3.870000	0.56070	2.873000	0.98535	0.563000	0.77884	ACG		0.507	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781		14	13	0	0	0	1	0	14	13					T	92534794	C	T	92534794	3	4	435	1	0	0	0	0	1	0	0	0	5691	536	19	1	8649	1	FAT3	11	92534794	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	524	92534794	42471722	5367	26292											
FAT3	120114	broad.mit.edu	37	chr11	92568221	92568221	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acagtgcggttatcagtgaaGacgccttggtgggagactct	9	10	14	8	2	2	3	1	1	1	2	2	4	2	3	1	3	1	1	1	3	2	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:92568221G>A	ENST00000298047.6	+	14	10074	c.10057G>A	c.(10057-10059)Gac>Aac	p.D3353N	FAT3_ENST00000409404.2_Missense_Mutation_p.D3353N|FAT3_ENST00000525166.1_Missense_Mutation_p.D3203N			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	3353	Cadherin 31. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				TATCAGTGAAGACGCCTTGGT	0.488										TCGA Ovarian(4;0.039)																												ENST00000298047.6																			0				NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85						c.(10057-10059)Gac>Aac		FAT atypical cadherin 3							50	50	50					11																	92568221		1937	4149	6086	SO:0001583	missense	120114				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr11:92568221G>A	AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"Cadherins / Cadherin-related"	23112	protein-coding gene	gene with protein product	"cadherin-related family member 10"	612483	"FAT tumor suppressor homolog 3 (Drosophila)"			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.10057G>A	11.37:g.92568221G>A	ENSP00000298047:p.Asp3353Asn	TCGA Ovarian(4;0.039)				FAT3_ENST00000409404.2_Missense_Mutation_p.D3353N|FAT3_ENST00000525166.1_Missense_Mutation_p.D3203N	p.D3353N			Q8TDW7	FAT3_HUMAN			14	10074	+		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)	3353			Cadherin 31.		B5MDB0|Q96AU6	Missense_Mutation	SNP	ENST00000298047.6	37	c.10057G>A		.	.	.	.	.	.	.	.	.	.	G	28.8	4.952169	0.92660	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000525166	T;T;T	0.58210	0.35;0.35;0.35	5.46	5.46	0.80206	.	.	.	.	.	T	0.62208	0.2409	L	0.31371	0.925	0.80722	D	1	D	0.89917	1.0	D	0.74348	0.983	T	0.57318	-0.7832	9	0.27082	T	0.32	.	19.3231	0.94250	0.0:0.0:1.0:0.0	.	3353	Q8TDW7-3	.	N	3353;3353;3203	ENSP00000298047:D3353N;ENSP00000387040:D3353N;ENSP00000432586:D3203N	ENSP00000298047:D3353N	D	+	1	0	FAT3	92207869	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	9.782000	0.99034	2.539000	0.85634	0.655000	0.94253	GAC		0.488	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781		14	18	0	0	0	1	0	14	18					A	92568221	G	A	92568221	3	1	435	1	0	0	0	0	1	0	0	0	5691	942	33	3	10111	3	FAT3	11	92568221	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	33427	92568221	42438295	5368	26293											
FAT3	120114	broad.mit.edu	37	chr11	92577883	92577883	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cgcgtttctacaggaacgtgCgttgcacctgcaatggtgag	8	10	13	10	4	1	1	0	1	1	0	1	2	1	2	1	2	5	4	1	2	3	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:92577883C>T	ENST00000298047.6	+	18	11367	c.11350C>T	c.(11350-11352)Cgt>Tgt	p.R3784C	FAT3_ENST00000533797.1_Missense_Mutation_p.R119C|FAT3_ENST00000409404.2_Missense_Mutation_p.R3784C|FAT3_ENST00000525166.1_Missense_Mutation_p.R3634C			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	3784					homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				CAGGAACGTGCGTTGCACCTG	0.507										TCGA Ovarian(4;0.039)																												ENST00000298047.6																			0				NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85						c.(11350-11352)Cgt>Tgt		FAT atypical cadherin 3							70	67	68					11																	92577883		2118	4242	6360	SO:0001583	missense	120114				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr11:92577883C>T	AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"Cadherins / Cadherin-related"	23112	protein-coding gene	gene with protein product	"cadherin-related family member 10"	612483	"FAT tumor suppressor homolog 3 (Drosophila)"			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.11350C>T	11.37:g.92577883C>T	ENSP00000298047:p.Arg3784Cys	TCGA Ovarian(4;0.039)				FAT3_ENST00000409404.2_Missense_Mutation_p.R3784C|FAT3_ENST00000533797.1_Missense_Mutation_p.R119C|FAT3_ENST00000525166.1_Missense_Mutation_p.R3634C	p.R3784C			Q8TDW7	FAT3_HUMAN			18	11367	+		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)	3784					B5MDB0|Q96AU6	Missense_Mutation	SNP	ENST00000298047.6	37	c.11350C>T		.	.	.	.	.	.	.	.	.	.	C	18.72	3.683813	0.68157	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000525166;ENST00000533797	T;T;T;T	0.35789	1.29;1.29;1.29;1.29	5.97	5.97	0.96955	.	.	.	.	.	T	0.56307	0.1976	L	0.50333	1.59	0.80722	D	1	D;D	0.89917	1.0;0.984	D;P	0.65874	0.939;0.731	T	0.51756	-0.8665	9	0.56958	D	0.05	.	20.4239	0.99064	0.0:1.0:0.0:0.0	.	3784;3784	Q8TDW7-3;Q8TDW7	.;FAT3_HUMAN	C	3784;3784;3634;119	ENSP00000298047:R3784C;ENSP00000387040:R3784C;ENSP00000432586:R3634C;ENSP00000436399:R119C	ENSP00000298047:R3784C	R	+	1	0	FAT3	92217531	0.998000	0.40836	0.998000	0.56505	0.819000	0.46315	2.409000	0.44583	2.828000	0.97474	0.655000	0.94253	CGT		0.507	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781		3	3	0	0	0	1	0	3	3					T	92577883	C	T	92577883	3	4	435	1	0	0	0	0	1	0	0	0	5691	768	27	1	11420	1	FAT3	11	92577883	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	9662	92577883	42428633	5369	26294											
FAT3	120114	broad.mit.edu	37	chr11	92616214	92616214	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagtgcaggacccggccaccGccgccctgcttaacaagagc	9	5	11	16	3	0	1	0	0	0	1	0	2	0	2	5	2	4	2	5	2	3	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:92616214G>A	ENST00000298047.6	+	23	12609	c.12592G>A	c.(12592-12594)Gcc>Acc	p.A4198T	FAT3_ENST00000533797.1_Missense_Mutation_p.A533T|FAT3_ENST00000409404.2_Missense_Mutation_p.A4198T|FAT3_ENST00000525166.1_Missense_Mutation_p.A4048T			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	4198					homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				CCCGGCCACCGCCGCCCTGCT	0.617										TCGA Ovarian(4;0.039)																												ENST00000298047.6																			0				NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85						c.(12592-12594)Gcc>Acc		FAT atypical cadherin 3							49	61	57					11																	92616214		2019	4171	6190	SO:0001583	missense	120114				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr11:92616214G>A	AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"Cadherins / Cadherin-related"	23112	protein-coding gene	gene with protein product	"cadherin-related family member 10"	612483	"FAT tumor suppressor homolog 3 (Drosophila)"			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.12592G>A	11.37:g.92616214G>A	ENSP00000298047:p.Ala4198Thr	TCGA Ovarian(4;0.039)				FAT3_ENST00000409404.2_Missense_Mutation_p.A4198T|FAT3_ENST00000533797.1_Missense_Mutation_p.A533T|FAT3_ENST00000525166.1_Missense_Mutation_p.A4048T	p.A4198T			Q8TDW7	FAT3_HUMAN			23	12609	+		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)	4198					B5MDB0|Q96AU6	Missense_Mutation	SNP	ENST00000298047.6	37	c.12592G>A		.	.	.	.	.	.	.	.	.	.	G	19.14	3.770376	0.69992	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000525166;ENST00000533797	T;T;T;D	0.86097	-0.9;-0.9;-0.91;-2.07	5.85	5.85	0.93711	.	.	.	.	.	D	0.87103	0.6094	L	0.38953	1.18	0.80722	D	1	D;D	0.76494	0.999;0.99	P;P	0.59948	0.866;0.475	T	0.81920	-0.0712	9	0.12430	T	0.62	.	20.161	0.98133	0.0:0.0:1.0:0.0	.	4198;4198	Q8TDW7-3;Q8TDW7	.;FAT3_HUMAN	T	4198;4198;4048;533	ENSP00000298047:A4198T;ENSP00000387040:A4198T;ENSP00000432586:A4048T;ENSP00000436399:A533T	ENSP00000298047:A4198T	A	+	1	0	FAT3	92255862	1.000000	0.71417	0.339000	0.25562	0.523000	0.34469	6.658000	0.74407	2.770000	0.95276	0.655000	0.94253	GCC		0.617	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781		13	28	0	0	0	1	0	13	28					A	92616214	G	A	92616214	3	1	435	1	0	0	0	0	1	0	0	0	5691	1087	38	1	12682	1	FAT3	11	92616214	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	38331	92616214	42390302	5370	26295											
MTNR1B	4544	broad.mit.edu	37	chr11	92714946	92714946	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtccctggagtacgacccacGcatctattcctgcaccttca	8	10	7	16	2	2	0	1	0	1	0	4	2	4	1	4	1	2	3	4	1	2	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:92714946G>A	ENST00000257068.2	+	2	563	c.557G>A	c.(556-558)cGc>cAc	p.R186H		NM_005959.3	NP_005950.1	P49286	MTR1B_HUMAN	melatonin receptor 1B	186					G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|glucose homeostasis (GO:0042593)|regulation of insulin secretion (GO:0050796)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|melatonin receptor activity (GO:0008502)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(19)|ovary(1)|prostate(2)|urinary_tract(1)	33		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)			Agomelatine(DB06594)|Melatonin(DB01065)|Ramelteon(DB00980)	TACGACCCACGCATCTATTCC	0.617																																						ENST00000257068.2																			0				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(19)|ovary(1)|prostate(2)|urinary_tract(1)	33						c.(556-558)cGc>cAc		melatonin receptor 1B	Ramelteon(DB00980)						91	87	88					11																	92714946		2201	4298	6499	SO:0001583	missense	4544				G-protein signaling, coupled to cyclic nucleotide second messenger|glucose homeostasis|regulation of insulin secretion|synaptic transmission	integral to plasma membrane	melatonin receptor activity	g.chr11:92714946G>A	AB033598	CCDS8290.1	11q21-q22	2012-08-08			ENSG00000134640	ENSG00000134640		"GPCR / Class A : Melatonin receptors"	7464	protein-coding gene	gene with protein product		600804					Standard	NM_005959		Approved		uc001pdk.1	P49286	OTTHUMG00000167364	ENST00000257068.2:c.557G>A	11.37:g.92714946G>A	ENSP00000257068:p.Arg186His						p.R186H	NM_005959.3	NP_005950.1	P49286	MTR1B_HUMAN			2	563	+		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)	186						Missense_Mutation	SNP	ENST00000257068.2	37	c.557G>A	CCDS8290.1	.	.	.	.	.	.	.	.	.	.	G	17.96	3.515259	0.64634	.	.	ENSG00000134640	ENST00000257068	T	0.72394	-0.65	4.21	3.28	0.37604	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.79233	0.4411	M	0.87617	2.895	0.58432	D	0.999997	P	0.47409	0.895	P	0.50162	0.633	T	0.81061	-0.1103	10	0.39692	T	0.17	-21.8726	13.6018	0.62024	0.0:0.0:0.8434:0.1566	.	186	P49286	MTR1B_HUMAN	H	186	ENSP00000257068:R186H	ENSP00000257068:R186H	R	+	2	0	MTNR1B	92354594	1.000000	0.71417	0.691000	0.30163	0.603000	0.37013	7.031000	0.76491	1.097000	0.41459	0.491000	0.48974	CGC		0.617	MTNR1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394323.1			6	11	0	0	0	1	0	6	11					A	92714946	G	A	92714946	3	1	435	1	0	0	0	0	1	0	0	0	9952	1087	38	1	563	1	MTNR1B	11	92714946	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	98732	92714946	42291570	5371	26296											
CCDC67	159989	broad.mit.edu	37	chr11	93127645	93127645	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ataagaagccaactccaacaGgtggaagagtaccataactc	17	6	8	10	0	0	2	0	0	0	2	2	3	1	3	3	2	5	1	3	2	7	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:93127645G>A	ENST00000298050.3	+	10	1162	c.1062G>A	c.(1060-1062)caG>caA	p.Q354Q	CCDC67_ENST00000525646.1_Silent_p.Q96Q	NM_181645.3	NP_857596.2	Q05D60	DEUP1_HUMAN	coiled-coil domain containing 67	354					cell projection organization (GO:0030030)|de novo centriole assembly (GO:0098535)	cytoplasm (GO:0005737)|deuterosome (GO:0098536)				endometrium(3)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		Acute lymphoblastic leukemia(157;2.35e-05)|all_hematologic(158;0.00824)				AACTCCAACAGGTGGAAGAGT	0.383																																						ENST00000298050.3																			0				endometrium(3)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						c.(1060-1062)caG>caA		coiled-coil domain containing 67							60	52	55					11																	93127645		1863	4081	5944	SO:0001819	synonymous_variant	159989							g.chr11:93127645G>A	AK058122	CCDS44707.1	11q21	2014-02-20				ENSG00000165325			26344	protein-coding gene	gene with protein product						24240477	Standard	NM_181645		Approved	FLJ25393	uc001pdq.3	Q05D60		ENST00000298050.3:c.1062G>A	11.37:g.93127645G>A						CCDC67_ENST00000525646.1_Silent_p.Q96Q	p.Q354Q	NM_181645.3	NP_857596.2	Q05D60	CCD67_HUMAN			10	1162	+		Acute lymphoblastic leukemia(157;2.35e-05)|all_hematologic(158;0.00824)	354					Q8NEF1|Q96LL7	Silent	SNP	ENST00000298050.3	37	c.1062G>A	CCDS44707.1																																																																																				0.383	CCDC67-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_181645		3	7	0	0	0	1	0	3	7					A	93127645	G	A	93127645	2	1	435	1	0	0	0	0	0	0	0	1	2839	991	35	3		3	CCDC67	11	93127645	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	412699	93127645	41878871	5372	26297											
HEPHL1	341208	broad.mit.edu	37	chr11	93800805	93800805	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acaccttcatcagcagagggCatcggactgatgtcgtcaac	11	8	10	12	2	3	2	3	1	0	1	5	3	3	3	1	2	2	2	1	2	1	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:93800805C>T	ENST00000315765.9	+	5	960	c.952C>T	c.(952-954)Cat>Tat	p.H318Y		NM_001098672.1	NP_001092142.1	Q6MZM0	HPHL1_HUMAN	hephaestin-like 1	318	Plastocyanin-like 2.				copper ion transport (GO:0006825)|oxidation-reduction process (GO:0055114)	integral component of membrane (GO:0016021)	copper ion binding (GO:0005507)|ferroxidase activity (GO:0004322)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	61		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)				CAGCAGAGGGCATCGGACTGA	0.473																																						ENST00000315765.9																			0				NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	61						c.(952-954)Cat>Tat		hephaestin-like 1							174	172	172					11																	93800805		1975	4153	6128	SO:0001583	missense	341208				copper ion transport	integral to membrane	copper ion binding|oxidoreductase activity	g.chr11:93800805C>T	BX641008	CCDS44710.1	11q21	2008-02-05			ENSG00000181333	ENSG00000181333			30477	protein-coding gene	gene with protein product							Standard	NM_001098672		Approved	DKFZp686F22190	uc001pep.2	Q6MZM0	OTTHUMG00000167751	ENST00000315765.9:c.952C>T	11.37:g.93800805C>T	ENSP00000313699:p.His318Tyr						p.H318Y	NM_001098672.1	NP_001092142.1	Q6MZM0	HPHL1_HUMAN			5	960	+		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)	318			Plastocyanin-like 2.		Q3C1W7	Missense_Mutation	SNP	ENST00000315765.9	37	c.952C>T	CCDS44710.1	.	.	.	.	.	.	.	.	.	.	C	17.94	3.511249	0.64522	.	.	ENSG00000181333	ENST00000315765	D	0.99619	-6.28	5.5	5.5	0.81552	Cupredoxin (2);Multicopper oxidase, type 2 (1);	0.045742	0.85682	D	0.000000	D	0.98912	0.9631	L	0.52126	1.63	0.58432	D	0.999996	P	0.45283	0.855	P	0.45946	0.498	D	0.99936	1.1363	10	0.22706	T	0.39	.	19.7571	0.96298	0.0:1.0:0.0:0.0	.	318	Q6MZM0	HPHL1_HUMAN	Y	318	ENSP00000313699:H318Y	ENSP00000313699:H318Y	H	+	1	0	HEPHL1	93440453	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	7.533000	0.81994	2.758000	0.94735	0.561000	0.74099	CAT		0.473	HEPHL1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396103.2	XM_291947		45	97	0	0	0	1	0	45	97					T	93800805	C	T	93800805	3	4	435	1	0	0	0	0	1	0	0	0	7055	710	25	3	970	3	HEPHL1	11	93800805	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	673160	93800805	41205711	5373	26298											
ANKRD49	54851	broad.mit.edu	37	chr11	94231249	94231249	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cttctcagcttaccacagtgCggagactcctttctgaaaag	10	11	8	12	1	2	2	1	1	2	1	4	3	3	2	2	1	3	1	2	1	3	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:94231249C>T	ENST00000544612.1	+	3	768	c.271C>T	c.(271-273)Cgg>Tgg	p.R91W	ANKRD49_ENST00000538535.1_3'UTR|ANKRD49_ENST00000544253.1_3'UTR|ANKRD49_ENST00000302755.4_Missense_Mutation_p.R91W|ANKRD49_ENST00000540349.1_3'UTR	NM_017704.2	NP_060174.2	Q8WVL7	ANR49_HUMAN	ankyrin repeat domain 49	91					positive regulation of transcription, DNA-templated (GO:0045893)	nucleus (GO:0005634)		p.R91W(2)		autonomic_ganglia(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|urinary_tract(1)	12		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				TACCACAGTGCGGAGACTCCT	0.383																																					Melanoma(113;823 1621 4352 9582 22033)	ENST00000544612.1																			2	Substitution - Missense(2)	p.R91W(2)	large_intestine(1)|central_nervous_system(1)	autonomic_ganglia(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|urinary_tract(1)	12						c.(271-273)Cgg>Tgg		ankyrin repeat domain 49							47	48	48					11																	94231249		2201	4298	6499	SO:0001583	missense	54851				positive regulation of transcription, DNA-dependent			g.chr11:94231249C>T	AF025354	CCDS8300.1	11q21	2013-01-10				ENSG00000168876		"Ankyrin repeat domain containing"	25970	protein-coding gene	gene with protein product						11162141	Standard	NM_017704		Approved	FLJ20189, FGIF, GBIF	uc001pew.3	Q8WVL7		ENST00000544612.1:c.271C>T	11.37:g.94231249C>T	ENSP00000440396:p.Arg91Trp					ANKRD49_ENST00000538535.1_3'UTR|ANKRD49_ENST00000544253.1_3'UTR|ANKRD49_ENST00000540349.1_3'UTR|ANKRD49_ENST00000302755.4_Missense_Mutation_p.R91W	p.R91W	NM_017704.2	NP_060174.2	Q8WVL7	ANR49_HUMAN			3	768	+		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)	91					Q8NDF2|Q96JE5|Q9NXK7	Missense_Mutation	SNP	ENST00000544612.1	37	c.271C>T	CCDS8300.1	.	.	.	.	.	.	.	.	.	.	C	18.43	3.621846	0.66787	.	.	ENSG00000168876	ENST00000544612;ENST00000535502;ENST00000545130;ENST00000302755	T;T;T	0.67523	-0.27;-0.27;-0.27	6.07	6.07	0.98685	Ankyrin repeat-containing domain (4);	0.912497	0.09637	N	0.775476	T	0.81442	0.4823	M	0.84156	2.68	0.09310	N	1	D	0.57571	0.98	P	0.55303	0.773	T	0.73861	-0.3849	10	0.87932	D	0	-2.4181	16.2596	0.82533	0.1404:0.8596:0.0:0.0	.	91	Q8WVL7	ANR49_HUMAN	W	91;50;126;91	ENSP00000440396:R91W;ENSP00000442449:R50W;ENSP00000303518:R91W	ENSP00000303518:R91W	R	+	1	2	ANKRD49	93870897	0.009000	0.17119	0.845000	0.33349	0.785000	0.44390	1.673000	0.37534	2.885000	0.99019	0.655000	0.94253	CGG		0.383	ANKRD49-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396314.2	NM_017704		10	16	0	0	0	1	0	10	16					T	94231249	C	T	94231249	3	4	435	1	0	0	0	0	1	0	0	0	675	759	27	1	277	1	ANKRD49	11	94231249	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	430444	94231249	40775267	5374	26299											
FUT4	2526	broad.mit.edu	37	chr11	94278738	94278738	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttcctcgaccgcaaccccgCggtctatcgccgctacttcc	5	10	7	19	6	1	0	0	0	1	0	5	1	3	0	6	1	2	2	6	1	3	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:94278738C>T	ENST00000358752.2	+	1	1722	c.1439C>T	c.(1438-1440)gCg>gTg	p.A480V	RP11-867G2.8_ENST00000536540.1_RNA|RP11-867G2.8_ENST00000537874.1_RNA	NM_002033.3	NP_002024.1	P22083	FUT4_HUMAN	fucosyltransferase 4 (alpha (1,3) fucosyltransferase, myeloid-specific)	480					carbohydrate metabolic process (GO:0005975)|fucosylation (GO:0036065)|L-fucose catabolic process (GO:0042355)|protein glycosylation (GO:0006486)	cell periphery (GO:0071944)|cell surface (GO:0009986)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	alpha-(1->3)-fucosyltransferase activity (GO:0046920)|fucosyltransferase activity (GO:0008417)			central_nervous_system(2)|endometrium(2)|lung(1)|skin(2)|upper_aerodigestive_tract(1)	8		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				CGCAACCCCGCGGTCTATCGC	0.647																																						ENST00000358752.2																			0				central_nervous_system(2)|endometrium(2)|lung(1)|skin(2)|upper_aerodigestive_tract(1)	8						c.(1438-1440)gCg>gTg		fucosyltransferase 4 (alpha (1,3) fucosyltransferase, myeloid-specific)							40	43	42					11																	94278738		2201	4298	6499	SO:0001583	missense	2526				L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to membrane|membrane fraction	alpha(1,3)-fucosyltransferase activity	g.chr11:94278738C>T		CCDS8301.1	11q21	2013-02-26			ENSG00000196371	ENSG00000196371		"CD molecules", "Fucosyltransferases"	4015	protein-coding gene	gene with protein product	"ELAM ligand fucosyltransferase", "galactoside 3-L-fucosyltransferase"	104230		CD15, FCT3A, ELFT		1702034	Standard	NM_002033		Approved	FUC-TIV	uc001pez.3	P22083	OTTHUMG00000167795	ENST00000358752.2:c.1439C>T	11.37:g.94278738C>T	ENSP00000351602:p.Ala480Val					RP11-867G2.8_ENST00000536540.1_RNA	p.A480V	NM_002033.3	NP_002024.1	P22083	FUT4_HUMAN			1	1722	+		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)	480					B2RMS0	Missense_Mutation	SNP	ENST00000358752.2	37	c.1439C>T	CCDS8301.1	.	.	.	.	.	.	.	.	.	.	c	9.868	1.198168	0.22037	.	.	ENSG00000196371	ENST00000358752	T	0.25912	1.77	4.93	2.84	0.33178	.	0.886691	0.09590	U	0.781620	T	0.18635	0.0447	L	0.31804	0.96	0.09310	N	1	B	0.26363	0.147	B	0.23716	0.048	T	0.20505	-1.0273	10	0.29301	T	0.29	.	9.2516	0.37557	0.2434:0.5103:0.2463:0.0	.	480	P22083	FUT4_HUMAN	V	480	ENSP00000351602:A480V	ENSP00000351602:A480V	A	+	2	0	FUT4	93918386	0.000000	0.05858	0.001000	0.08648	0.049000	0.14656	-0.387000	0.07361	1.136000	0.42199	0.561000	0.74099	GCG		0.647	FUT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396327.2	NM_002033		21	31	0	0	0	1	0	21	31					T	94278738	C	T	94278738	3	4	435	1	0	0	0	0	1	0	0	0	6106	768	27	1	1441	1	FUT4	11	94278738	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	47489	94278738	40727778	5375	26300											
ENDOD1	23052	broad.mit.edu	37	chr11	94862713	94862713	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgcaagcggattggctacaaGgttacttttgacaattctgg	10	13	11	7	1	1	1	0	1	1	0	1	2	1	2	0	4	4	3	0	4	5	6			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:94862713G>T	ENST00000278505.4	+	2	1591	c.1473G>T	c.(1471-1473)aaG>aaT	p.K491N		NM_015036.2	NP_055851.1	O94919	ENDD1_HUMAN	endonuclease domain containing 1	491						extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			breast(1)|endometrium(2)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	11		Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.00824)				TTGGCTACAAGGTTACTTTTG	0.423																																						ENST00000278505.4																			0				breast(1)|endometrium(2)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	11						c.(1471-1473)aaG>aaT		endonuclease domain containing 1							111	104	106					11																	94862713		1863	4112	5975	SO:0001583	missense	23052					extracellular region	endonuclease activity|metal ion binding|nucleic acid binding	g.chr11:94862713G>T	BC026191	CCDS41699.1	11q21	2010-03-19			ENSG00000149218	ENSG00000149218			29129	protein-coding gene	gene with protein product						10048485	Standard	NM_015036		Approved	KIAA0830	uc001pfh.3	O94919	OTTHUMG00000167835	ENST00000278505.4:c.1473G>T	11.37:g.94862713G>T	ENSP00000278505:p.Lys491Asn						p.K491N	NM_015036.2	NP_055851.1	O94919	ENDD1_HUMAN			2	1591	+		Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.00824)	491					A8K6K8|Q6GQY5|Q8TAQ8	Missense_Mutation	SNP	ENST00000278505.4	37	c.1473G>T	CCDS41699.1	.	.	.	.	.	.	.	.	.	.	G	8.303	0.820462	0.16678	.	.	ENSG00000149218	ENST00000278505	T	0.37752	1.18	5.98	4.13	0.48395	.	0.542732	0.18674	N	0.134380	T	0.32376	0.0827	L	0.56769	1.78	0.09310	N	1	B	0.34329	0.449	B	0.26094	0.066	T	0.24048	-1.0171	10	0.87932	D	0	-8.357	10.9939	0.47565	0.2063:0.0:0.7937:0.0	.	491	O94919	ENDD1_HUMAN	N	491	ENSP00000278505:K491N	ENSP00000278505:K491N	K	+	3	2	ENDOD1	94502361	0.213000	0.23551	0.336000	0.25522	0.286000	0.27126	0.363000	0.20301	0.875000	0.35847	-0.222000	0.12452	AAG		0.423	ENDOD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396545.1	NM_015036		15	67	1	0	3.45872e-05	1	3.56558e-05	15	67					T	94862713	G	T	94862713	3	4	435	1	0	0	0	0	1	0	0	0	5114	991	35	5	1479	5	ENDOD1	11	94862713	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	583975	94862713	40143803	5376	26301											
SESN3	143686	broad.mit.edu	37	chr11	94918625	94918625	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catgtaccagttcaggcagaGaccaattattttctccagtt	11	13	7	10	0	2	1	1	0	1	1	3	2	2	1	3	1	1	4	3	1	3	6			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:94918625G>T	ENST00000536441.1	-	5	893	c.557C>A	c.(556-558)tCt>tAt	p.S186Y	SESN3_ENST00000416495.2_Missense_Mutation_p.S186Y|SESN3_ENST00000393234.1_Missense_Mutation_p.S186Y|RP11-712B9.2_ENST00000534864.1_RNA|RP11-712B9.2_ENST00000534891.1_RNA|SESN3_ENST00000278499.2_Missense_Mutation_p.S47Y	NM_001271594.1|NM_144665.2	NP_001258523.1|NP_653266.2	P58005	SESN3_HUMAN	sestrin 3	186					glucose homeostasis (GO:0042593)|regulation of protein kinase B signaling (GO:0051896)|regulation of response to reactive oxygen species (GO:1901031)|response to insulin (GO:0032868)	nucleus (GO:0005634)		p.S186Y(1)		endometrium(5)|large_intestine(6)|lung(3)|skin(1)|stomach(1)	16		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)		BRCA - Breast invasive adenocarcinoma(274;0.234)		TTCAGGCAGAGACCAATTATT	0.363																																						ENST00000536441.1																			1	Substitution - Missense(1)	p.S186Y(1)	large_intestine(1)	endometrium(5)|large_intestine(6)|lung(3)|skin(1)|stomach(1)	16						c.(556-558)tCt>tAt		sestrin 3							82	84	83					11																	94918625		2201	4296	6497	SO:0001583	missense	143686				cell cycle arrest	nucleus		g.chr11:94918625G>T	AK096300	CCDS8303.1, CCDS60938.1	11q21	2005-09-18			ENSG00000149212	ENSG00000149212			23060	protein-coding gene	gene with protein product		607768				12607115	Standard	NM_144665		Approved	SEST3, MGC29667	uc001pfj.4	P58005	OTTHUMG00000167829	ENST00000536441.1:c.557C>A	11.37:g.94918625G>T	ENSP00000441927:p.Ser186Tyr					SESN3_ENST00000393234.1_Missense_Mutation_p.S186Y|SESN3_ENST00000278499.2_Missense_Mutation_p.S47Y|SESN3_ENST00000416495.2_Missense_Mutation_p.S186Y|RP11-712B9.2_ENST00000534891.1_RNA|RP11-712B9.2_ENST00000534864.1_RNA	p.S186Y	NM_001271594.1|NM_144665.2	NP_001258523.1|NP_653266.2	P58005	SESN3_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.234)	5	893	-		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)	186					B7Z7P9|Q96AD1	Missense_Mutation	SNP	ENST00000536441.1	37	c.557C>A	CCDS8303.1	.	.	.	.	.	.	.	.	.	.	G	16.59	3.165146	0.57476	.	.	ENSG00000149212	ENST00000536441;ENST00000278499;ENST00000393234;ENST00000416495	T;T;T;T	0.40756	1.02;1.02;1.02;1.02	5.38	5.38	0.77491	.	0.000000	0.85682	D	0.000000	T	0.72795	0.3505	M	0.90309	3.105	0.80722	D	1	D;D;D	0.76494	0.997;0.999;0.999	D;D;D	0.87578	0.995;0.997;0.998	T	0.78580	-0.2149	10	0.87932	D	0	1.6643	19.4864	0.95030	0.0:0.0:1.0:0.0	.	47;186;186	B7Z7P9;P58005-3;P58005	.;.;SESN3_HUMAN	Y	186;47;186;186	ENSP00000441927:S186Y;ENSP00000278499:S47Y;ENSP00000376926:S186Y;ENSP00000407008:S186Y	ENSP00000278499:S47Y	S	-	2	0	SESN3	94558273	1.000000	0.71417	0.997000	0.53966	0.972000	0.66771	8.895000	0.92512	2.687000	0.91594	0.561000	0.74099	TCT		0.363	SESN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396475.3	NM_144665		22	54	1	0	2.79863e-10	1	2.98826e-10	22	54					T	94918625	G	T	94918625	3	4	435	1	0	0	0	0	1	0	0	0	14126	942	33	5	945	5	SESN3	11	94918625	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	55912	94918625	40087891	5377	26302											
CEP57	9702	broad.mit.edu	37	chr11	95532505	95532505	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccttaatagtgatctacgacGctccccaagtaagcctacac	12	9	6	14	2	1	1	0	1	1	0	2	2	2	1	4	0	3	2	4	0	6	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:95532505G>A	ENST00000325542.5	+	2	393	c.155G>A	c.(154-156)cGc>cAc	p.R52H	CEP57_ENST00000541150.1_Missense_Mutation_p.R43H|CEP57_ENST00000538658.1_Missense_Mutation_p.R52H|CEP57_ENST00000325486.5_Missense_Mutation_p.R52H|CEP57_ENST00000537677.1_Missense_Mutation_p.R25H	NM_001243776.1|NM_014679.4	NP_001230705.1|NP_055494.2	Q86XR8	CEP57_HUMAN	centrosomal protein 57kDa	52					fibroblast growth factor receptor signaling pathway (GO:0008543)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule anchoring (GO:0034453)|mitotic cell cycle (GO:0000278)|protein homooligomerization (GO:0051260)|protein import into nucleus, translocation (GO:0000060)|spermatid development (GO:0007286)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)	fibroblast growth factor binding (GO:0017134)|protein homodimerization activity (GO:0042803)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	13		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				GATCTACGACGCTCCCCAAGT	0.418									Mosaic Variegated Aneuploidy Syndrome																													ENST00000325542.5																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	13						c.(154-156)cGc>cAc		centrosomal protein 57kDa							140	131	134					11																	95532505		2201	4298	6499	SO:0001583	missense	9702	Mosaic Variegated Aneuploidy Syndrome	Familial Cancer Database	MVA, MVA syndrome, VMA syndrome, variegated mosaic aneuploidy syndrome, premature centromere division	fibroblast growth factor receptor signaling pathway|G2/M transition of mitotic cell cycle|protein import into nucleus, translocation|spermatid development	centrosome|cytosol|Golgi apparatus|microtubule|nucleus	fibroblast growth factor binding|protein homodimerization activity	g.chr11:95532505G>A	D42054	CCDS8304.1, CCDS58166.1, CCDS58167.1	11q21	2014-09-17			ENSG00000166037	ENSG00000166037			30794	protein-coding gene	gene with protein product		607951				7788527	Standard	NM_014679		Approved	Translokin, TSP57, KIAA0092	uc001pfp.2	Q86XR8	OTTHUMG00000167740	ENST00000325542.5:c.155G>A	11.37:g.95532505G>A	ENSP00000317902:p.Arg52His					CEP57_ENST00000325486.5_Missense_Mutation_p.R52H|CEP57_ENST00000538658.1_Missense_Mutation_p.R52H|CEP57_ENST00000537677.1_Missense_Mutation_p.R25H|CEP57_ENST00000541150.1_Missense_Mutation_p.R43H	p.R52H	NM_001243776.1|NM_014679.4	NP_001230705.1|NP_055494.2	Q86XR8	CEP57_HUMAN			2	393	+		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)	52					A0PJH1|A8K5D0|B4DDP5|F5H5F7|Q14704|Q5JB46|Q8IXP0|Q9BVF9	Missense_Mutation	SNP	ENST00000325542.5	37	c.155G>A	CCDS8304.1	.	.	.	.	.	.	.	.	.	.	G	14.76	2.630233	0.46944	.	.	ENSG00000166037	ENST00000537677;ENST00000325542;ENST00000325486;ENST00000544522;ENST00000541365;ENST00000538658;ENST00000541150	T;T;T;T;T;T	0.46819	1.43;1.47;1.51;0.89;0.86;1.43	4.93	4.93	0.64822	.	0.086607	0.49916	D	0.000129	T	0.36441	0.0967	L	0.47716	1.5	0.41043	D	0.985241	P;P;P;P	0.46220	0.874;0.642;0.801;0.584	B;B;B;B	0.33521	0.165;0.087;0.08;0.087	T	0.44922	-0.9296	10	0.87932	D	0	-7.1215	11.6244	0.51136	0.0828:0.0:0.9172:0.0	.	43;52;52;52	F5H5F7;Q86XR8-2;Q86XR8;Q86XR8-3	.;.;CEP57_HUMAN;.	H	25;52;52;43;25;52;43	ENSP00000441392:R25H;ENSP00000317902:R52H;ENSP00000317487:R52H;ENSP00000445821:R25H;ENSP00000445706:R52H;ENSP00000443436:R43H	ENSP00000317487:R52H	R	+	2	0	CEP57	95172153	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	4.219000	0.58561	2.424000	0.82194	0.655000	0.94253	CGC		0.418	CEP57-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395983.1	NM_014679		9	117	0	0	0	1	0	9	117					A	95532505	G	A	95532505	3	1	435	1	0	0	0	0	1	0	0	0	3256	1087	38	1	161	1	CEP57	11	95532505	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	613880	95532505	39474011	5378	26303											
MTMR2	8898	broad.mit.edu	37	chr11	95598776	95598776	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	attacggacccatgtctttaAtattttctcctggaagcaag	11	14	7	9	1	2	0	0	0	2	0	3	2	2	2	2	2	2	1	2	2	5	6			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:95598776A>G	ENST00000346299.5	-	3	591	c.251T>C	c.(250-252)aTt>aCt	p.I84T	MTMR2_ENST00000352297.7_Missense_Mutation_p.I12T|MTMR2_ENST00000409459.1_Missense_Mutation_p.I12T|MTMR2_ENST00000393223.3_Missense_Mutation_p.I12T|MTMR2_ENST00000484818.1_5'UTR	NM_016156.5	NP_057240.3	Q13614	MTMR2_HUMAN	myotubularin related protein 2	84	GRAM.				cell death (GO:0008219)|dendritic spine maintenance (GO:0097062)|inositol phosphate dephosphorylation (GO:0046855)|myelin assembly (GO:0032288)|negative regulation of endocytosis (GO:0045806)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of myelination (GO:0031642)|negative regulation of receptor catabolic process (GO:2000645)|negative regulation of receptor internalization (GO:0002091)|neuron development (GO:0048666)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|positive regulation of early endosome to late endosome transport (GO:2000643)|protein dephosphorylation (GO:0006470)|protein tetramerization (GO:0051262)|small molecule metabolic process (GO:0044281)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|endosome (GO:0005768)|neuronal postsynaptic density (GO:0097481)|nucleus (GO:0005634)|synaptic membrane (GO:0097060)|synaptic vesicle (GO:0008021)|vacuolar membrane (GO:0005774)	phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity (GO:0052629)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	19		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				CATGTCTTTAATATTTTCTCC	0.403																																						ENST00000393223.3																			0				autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	19						c.(34-36)aTt>aCt		myotubularin related protein 2							130	123	125					11																	95598776		2201	4298	6499	SO:0001583	missense	8898					nucleus	inositol or phosphatidylinositol phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr11:95598776A>G	U58033	CCDS8305.1, CCDS8306.1	11q22	2014-09-17			ENSG00000087053	ENSG00000087053		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"	7450	protein-coding gene	gene with protein product		603557		CMT4B		8640223, 9736772	Standard	NM_016156		Approved	KIAA1073	uc001pfu.3	Q13614	OTTHUMG00000153837	ENST00000346299.5:c.251T>C	11.37:g.95598776A>G	ENSP00000345752:p.Ile84Thr					MTMR2_ENST00000346299.5_Missense_Mutation_p.I84T|MTMR2_ENST00000409459.1_Missense_Mutation_p.I12T|MTMR2_ENST00000484818.1_5'UTR|MTMR2_ENST00000352297.7_Missense_Mutation_p.I12T	p.I12T	NM_001243571.1|NM_201278.2	NP_001230500.1|NP_958435.1	Q13614	MTMR2_HUMAN			5	697	-		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)	84			Ser-rich.		A6NN98|Q9UPS9	Missense_Mutation	SNP	ENST00000346299.5	37	c.35T>C	CCDS8305.1	.	.	.	.	.	.	.	.	.	.	A	18.61	3.661367	0.67700	.	.	ENSG00000087053	ENST00000346299;ENST00000393223;ENST00000409459;ENST00000352297;ENST00000444541;ENST00000546018	D;D;D;D;D	0.89123	-2.47;-2.47;-2.47;-2.47;-2.47	5.76	5.76	0.90799	GRAM (2);	0.343936	0.34460	N	0.003951	D	0.88980	0.6585	M	0.63843	1.955	0.45318	D	0.998319	B;B	0.29552	0.248;0.248	B;B	0.35727	0.148;0.209	D	0.87294	0.2301	10	0.46703	T	0.11	.	15.7399	0.77887	1.0:0.0:0.0:0.0	.	84;84	A8K5G2;Q13614	.;MTMR2_HUMAN	T	84;12;12;12;12;67	ENSP00000345752:I84T;ENSP00000376915:I12T;ENSP00000386882:I12T;ENSP00000343737:I12T;ENSP00000396020:I12T	ENSP00000345752:I84T	I	-	2	0	MTMR2	95238424	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.466000	0.80914	2.185000	0.69588	0.482000	0.46254	ATT		0.403	MTMR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332620.1	NM_016156		41	52	0	0	0	1	0	41	52					G	95598776	A	G	95598776	3	3	435	1	0	0	0	0	1	0	0	0	9944	101	4	4	1732	4	MTMR2	11	95598776	Missense_Mutation	SNP	A	TCGA-XK-AAIW-01A-11D-A41K-08	66271	95598776	39407740	5379	26304											
MAML2	84441	broad.mit.edu	37	chr11	95712519	95712519	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gggtctcatttgcactgctgGtgttaactggttaggaggag	7	13	15	6	0	1	0	1	0	1	0	2	2	1	2	0	5	3	4	0	5	2	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:95712519G>A	ENST00000524717.1	-	5	4348	c.3064C>T	c.(3064-3066)Cca>Tca	p.P1022S		NM_032427.1	NP_115803.1	Q8IZL2	MAML2_HUMAN	mastermind-like 2 (Drosophila)	1022					gene expression (GO:0010467)|Notch signaling pathway (GO:0007219)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription initiation from RNA polymerase II promoter (GO:0006367)	Golgi apparatus (GO:0005794)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)		CRTC3/MAML2(26)|CRTC1/MAML2(516)	breast(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	43		Acute lymphoblastic leukemia(157;2.63e-05)|all_hematologic(158;0.00837)				TGCACTGCTGGTGTTAACTGG	0.512			T	"MECT1, CRTC3"	salivary gland mucoepidermoid																																	ENST00000524717.1				Dom	yes		11	11q22-q23	84441	T	mastermind-like 2 (Drosophila)			E	"MECT1, CRTC3"		salivary gland mucoepidermoid	CRTC3/MAML2(26)|CRTC1/MAML2(516)	0				breast(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	43						c.(3064-3066)Cca>Tca		mastermind-like 2 (Drosophila)							128	115	119					11																	95712519		1961	4150	6111	SO:0001583	missense	84441				Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity	g.chr11:95712519G>A	AB058722	CCDS44714.1	11q	2008-02-05	2001-11-28		ENSG00000184384	ENSG00000184384			16259	protein-coding gene	gene with protein product		607537	"mastermind (Drosophila)-like 2"			12370315, 12386158	Standard	NM_032427		Approved	KIAA1819, MAM3	uc001pfw.1	Q8IZL2	OTTHUMG00000167677	ENST00000524717.1:c.3064C>T	11.37:g.95712519G>A	ENSP00000434552:p.Pro1022Ser						p.P1022S	NM_032427.1	NP_115803.1	Q8IZL2	MAML2_HUMAN			5	4348	-		Acute lymphoblastic leukemia(157;2.63e-05)|all_hematologic(158;0.00837)	1022					A7MD26|Q6AI23|Q6Y3A3|Q8IUL3|Q96JK6	Missense_Mutation	SNP	ENST00000524717.1	37	c.3064C>T	CCDS44714.1	.	.	.	.	.	.	.	.	.	.	G	18.99	3.740061	0.69304	.	.	ENSG00000184384	ENST00000524717;ENST00000440572	T;T	0.51071	0.72;0.72	5.72	4.8	0.61643	.	0.080212	0.52532	D	0.000072	T	0.44953	0.1318	N	0.22421	0.69	0.44976	D	0.997996	D	0.58620	0.983	P	0.53490	0.727	T	0.40098	-0.9581	10	0.45353	T	0.12	-12.0193	11.5767	0.50866	0.0:0.2624:0.6152:0.1223	.	1022	Q8IZL2	MAML2_HUMAN	S	1022	ENSP00000434552:P1022S;ENSP00000412394:P1022S	ENSP00000412394:P1022S	P	-	1	0	MAML2	95352167	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.463000	0.53050	1.404000	0.46819	0.561000	0.74099	CCA		0.512	MAML2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395540.1			13	22	0	0	0	1	0	13	22					A	95712519	G	A	95712519	3	1	435	1	0	0	0	0	1	0	0	0	9206	1261	44	3	410	3	MAML2	11	95712519	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	113743	95712519	39293997	5380	26305											
CCDC82	79780	broad.mit.edu	37	chr11	96117750	96117750	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aaactttcatcactatcaagCtcttcatcactatcaaattc	14	14	1	12	0	7	0	6	0	1	0	8	0	7	0	0	0	2	1	0	0	5	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:96117750C>T	ENST00000278520.5	-	3	590	c.162G>A	c.(160-162)gaG>gaA	p.E54E	CCDC82_ENST00000423339.2_Silent_p.E54E|CCDC82_ENST00000542662.1_Silent_p.E54E|CCDC82_ENST00000525786.1_5'Flank			Q8N4S0	CCD82_HUMAN	coiled-coil domain containing 82	54										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)	19		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)		BRCA - Breast invasive adenocarcinoma(274;0.154)		CACTATCAAGCTCTTCATCAC	0.353																																						ENST00000278520.5																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)	19						c.(160-162)gaG>gaA		coiled-coil domain containing 82							143	131	135					11																	96117750		2201	4296	6497	SO:0001819	synonymous_variant	79780						protein binding	g.chr11:96117750C>T	AF245436	CCDS8307.1	11q21	2006-03-09			ENSG00000149231	ENSG00000149231			26282	protein-coding gene	gene with protein product						12477932	Standard	NM_024725		Approved	FLJ23518	uc001pfx.4	Q8N4S0	OTTHUMG00000167678	ENST00000278520.5:c.162G>A	11.37:g.96117750C>T						CCDC82_ENST00000542662.1_Silent_p.E54E|CCDC82_ENST00000423339.2_Silent_p.E54E	p.E54E			Q8N4S0	CCD82_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.154)	3	590	-		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)	54					B3KPU7|Q8WV71|Q9H2Q5|Q9H5E3	Silent	SNP	ENST00000278520.5	37	c.162G>A	CCDS8307.1																																																																																				0.353	CCDC82-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395542.2	NM_024725		11	43	0	0	0	1	0	11	43					T	96117750	C	T	96117750	2	4	435	1	0	0	0	0	0	0	0	1	2856	796	28	3		3	CCDC82	11	96117750	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	405231	96117750	38888766	5381	26306											
CNTN5	53942	broad.mit.edu	37	chr11	100064390	100064390	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggacattttgaaagcatcAgggccgtaagtgaatacact	13	10	11	7	1	1	2	1	2	0	0	1	3	1	3	1	2	2	2	1	2	4	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:100064390A>G	ENST00000524871.1	+	15	2169	c.1879A>G	c.(1879-1881)Agg>Ggg	p.R627G	CNTN5_ENST00000527185.1_Missense_Mutation_p.R627G|CNTN5_ENST00000528682.1_Missense_Mutation_p.R627G|CNTN5_ENST00000418526.2_Missense_Mutation_p.R553G|CNTN5_ENST00000524560.1_3'UTR|CNTN5_ENST00000279463.3_Missense_Mutation_p.R627G	NM_014361.3	NP_055176.1	O94779	CNTN5_HUMAN	contactin 5	627	Ig-like C2-type 6.				cell adhesion (GO:0007155)|sensory perception of sound (GO:0007605)	anchored component of membrane (GO:0031225)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)				NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		TGAAAGCATCAGGGCCGTAAG	0.363																																						ENST00000524871.1																			0				NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81						c.(1879-1881)Agg>Ggg		contactin 5							91	85	87					11																	100064390		1844	4084	5928	SO:0001583	missense	53942				cell adhesion	anchored to membrane|plasma membrane	protein binding	g.chr11:100064390A>G	AB013802	CCDS53696.1, CCDS53697.1, CCDS58168.1	11q22.1	2013-02-11			ENSG00000149972	ENSG00000149972		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	2175	protein-coding gene	gene with protein product		607219					Standard	NM_014361		Approved	NB-2, hNB-2	uc021qpb.1	O94779	OTTHUMG00000167579	ENST00000524871.1:c.1879A>G	11.37:g.100064390A>G	ENSP00000435637:p.Arg627Gly					CNTN5_ENST00000279463.3_Missense_Mutation_p.R627G|CNTN5_ENST00000528682.1_Missense_Mutation_p.R627G|CNTN5_ENST00000418526.2_Missense_Mutation_p.R553G|CNTN5_ENST00000524560.1_3'UTR|CNTN5_ENST00000527185.1_Missense_Mutation_p.R627G	p.R627G	NM_014361.3	NP_055176.1	O94779	CNTN5_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)	15	2169	+		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)	627			Ig-like C2-type 6.		A1L4P0|B7ZM07|E9PKE8|O94780|Q49AF3	Missense_Mutation	SNP	ENST00000524871.1	37	c.1879A>G	CCDS53696.1	.	.	.	.	.	.	.	.	.	.	A	4.461	0.085464	0.08583	.	.	ENSG00000149972	ENST00000527185;ENST00000528682;ENST00000524871;ENST00000418526;ENST00000279463	T;T;T;T;T	0.68025	-0.3;-0.3;-0.3;-0.3;-0.3	5.96	4.77	0.60923	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.095542	0.64402	D	0.000001	T	0.43678	0.1258	N	0.10760	0.04	0.39562	D	0.969148	B;B;B	0.29232	0.238;0.123;0.238	B;B;B	0.34590	0.186;0.075;0.186	T	0.44937	-0.9295	10	0.02654	T	1	.	12.2105	0.54377	0.8579:0.1421:0.0:0.0	.	627;553;627	E9PKE8;O94779-2;O94779	.;.;CNTN5_HUMAN	G	627;627;627;553;627	ENSP00000433575:R627G;ENSP00000436185:R627G;ENSP00000435637:R627G;ENSP00000393229:R553G;ENSP00000279463:R627G	ENSP00000279463:R627G	R	+	1	2	CNTN5	99569600	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.790000	0.38734	2.279000	0.76181	0.533000	0.62120	AGG		0.363	CNTN5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395148.2	NM_014361		6	40	0	0	0	1	0	6	40					G	100064390	A	G	100064390	3	3	435	1	0	0	0	0	1	0	0	0	3644	179	7	4	1929	4	CNTN5	11	100064390	Missense_Mutation	SNP	A	TCGA-XK-AAIW-01A-11D-A41K-08	3946640	100064390	34942126	5382	26307											
CNTN5	53942	broad.mit.edu	37	chr11	100221465	100221465	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	caagagggtcacagcaacagCcaagttattgaaacacagaa	18	5	9	9	0	1	3	1	1	0	2	1	3	1	3	1	1	4	2	1	1	6	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:100221465C>T	ENST00000524871.1	+	24	3353	c.3063C>T	c.(3061-3063)agC>agT	p.S1021S	CNTN5_ENST00000528682.1_Silent_p.S1021S|CNTN5_ENST00000418526.2_Silent_p.S947S|CNTN5_ENST00000524560.1_3'UTR|CNTN5_ENST00000279463.3_Silent_p.S1021S	NM_014361.3	NP_055176.1	O94779	CNTN5_HUMAN	contactin 5	1021	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|sensory perception of sound (GO:0007605)	anchored component of membrane (GO:0031225)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)				NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		ACAGCAACAGCCAAGTTATTG	0.383																																						ENST00000524871.1																			0				NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81						c.(3061-3063)agC>agT		contactin 5							112	106	108					11																	100221465		1889	4113	6002	SO:0001819	synonymous_variant	53942				cell adhesion	anchored to membrane|plasma membrane	protein binding	g.chr11:100221465C>T	AB013802	CCDS53696.1, CCDS53697.1, CCDS58168.1	11q22.1	2013-02-11			ENSG00000149972	ENSG00000149972		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	2175	protein-coding gene	gene with protein product		607219					Standard	NM_014361		Approved	NB-2, hNB-2	uc021qpb.1	O94779	OTTHUMG00000167579	ENST00000524871.1:c.3063C>T	11.37:g.100221465C>T						CNTN5_ENST00000279463.3_Silent_p.S1021S|CNTN5_ENST00000528682.1_Silent_p.S1021S|CNTN5_ENST00000418526.2_Silent_p.S947S|CNTN5_ENST00000524560.1_3'UTR	p.S1021S	NM_014361.3	NP_055176.1	O94779	CNTN5_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)	24	3353	+		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)	1021			Fibronectin type-III 4.		A1L4P0|B7ZM07|E9PKE8|O94780|Q49AF3	Silent	SNP	ENST00000524871.1	37	c.3063C>T	CCDS53696.1																																																																																				0.383	CNTN5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395148.2	NM_014361		7	21	0	0	0	1	0	7	21					T	100221465	C	T	100221465	2	4	435	1	0	0	0	0	0	0	0	1	3644	738	26	3		3	CNTN5	11	100221465	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	157075	100221465	34785051	5383	26308											
KIAA1377	57562	broad.mit.edu	37	chr11	101828970	101828970	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcagaaacaactcttatccaAaatcaattgtgagaaagaaa	20	9	5	7	0	3	3	2	1	1	3	4	4	4	3	1	0	2	0	1	0	8	2	rs146349473		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:101828970A>G	ENST00000263468.8	+	5	848	c.578A>G	c.(577-579)aAa>aGa	p.K193R	KIAA1377_ENST00000537689.1_5'UTR	NM_020802.2	NP_065853.2	Q9P2H0	K1377_HUMAN	KIAA1377	193										breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(18)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	53	all_epithelial(12;0.0104)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00931)		BRCA - Breast invasive adenocarcinoma(274;0.038)		CTCTTATCCAAAATCAATTGT	0.383																																						ENST00000263468.8																			0				breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(18)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	53						c.(577-579)aAa>aGa		KIAA1377		A	ARG/LYS	1,4405	2.1+/-5.4	0,1,2202	184	198	194		578	1.7	0	11	dbSNP_134	194	4,8594	3.7+/-12.6	0,4,4295	yes	missense	KIAA1377	NM_020802.2	26	0,5,6497	GG,GA,AA		0.0465,0.0227,0.0384	benign	193/1118	101828970	5,12999	2203	4299	6502	SO:0001583	missense	57562						protein binding	g.chr11:101828970A>G	AK095004	CCDS31658.1	11q22.2	2006-02-03			ENSG00000110318	ENSG00000110318			29264	protein-coding gene	gene with protein product		614634				10718198	Standard	XM_005271627		Approved		uc001pgm.3	Q9P2H0	OTTHUMG00000167319	ENST00000263468.8:c.578A>G	11.37:g.101828970A>G	ENSP00000263468:p.Lys193Arg					KIAA1377_ENST00000537689.1_5'UTR	p.K193R	NM_020802.2	NP_065853.2	Q9P2H0	K1377_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.038)	5	848	+	all_epithelial(12;0.0104)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00931)	193					Q4G0U6	Missense_Mutation	SNP	ENST00000263468.8	37	c.578A>G	CCDS31658.1	.	.	.	.	.	.	.	.	.	.	A	0.011	-1.711744	0.00712	2.27E-4	4.65E-4	ENSG00000110318	ENST00000263468	T	0.07800	3.16	5.68	1.7	0.24286	.	0.724500	0.13182	N	0.407416	T	0.05044	0.0135	N	0.20986	0.625	0.09310	N	0.999993	B	0.02656	0.0	B	0.06405	0.002	T	0.47156	-0.9139	10	0.12766	T	0.61	-7.4437	7.3174	0.26507	0.6476:0.1174:0.235:0.0	.	193	Q9P2H0	K1377_HUMAN	R	193	ENSP00000263468:K193R	ENSP00000263468:K193R	K	+	2	0	KIAA1377	101334180	0.159000	0.22864	0.020000	0.16555	0.041000	0.13682	0.478000	0.22212	0.106000	0.17784	-1.162000	0.01777	AAA		0.383	KIAA1377-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394140.1	NM_020802		90	140	0	0	0	1	0	90	140					G	101828970	A	G	101828970	3	3	435	1	0	0	0	0	1	0	0	0	8227	14	1	4	596	4	KIAA1377	11	101828970	Missense_Mutation	SNP	A	TCGA-XK-AAIW-01A-11D-A41K-08	1607505	101828970	33177546	5384	26309											
C11orf70	85016	broad.mit.edu	37	chr11	101946621	101946621	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taggttttgctagtggaagaCtcagaaaaatatgaaatatt	16	13	9	3	0	1	3	1	1	0	2	1	4	1	4	0	2	1	2	0	2	8	7			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:101946621C>T	ENST00000434758.2	+	5	481	c.453C>T	c.(451-453)gaC>gaT	p.D151D	C11orf70_ENST00000534360.1_Missense_Mutation_p.L96F|C11orf70_ENST00000526781.1_Silent_p.D151D	NM_032930.2	NP_116319.2	Q9BRQ4	CK070_HUMAN	chromosome 11 open reading frame 70	151										breast(1)|kidney(1)|lung(5)|ovary(1)|prostate(2)|skin(2)	12	all_epithelial(12;0.0137)	Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.0137)	Lung(13;0.245)	BRCA - Breast invasive adenocarcinoma(274;0.0335)		TAGTGGAAGACTCAGAAAAAT	0.323																																						ENST00000534360.1																			0				breast(1)|kidney(1)|lung(5)|ovary(1)|prostate(2)|skin(2)	12						c.(286-288)Ctc>Ttc		chromosome 11 open reading frame 70							108	108	108					11																	101946621		2203	4299	6502	SO:0001819	synonymous_variant	85016							g.chr11:101946621C>T	AK094851	CCDS8313.1, CCDS8313.2, CCDS53698.1	11q22.1	2012-05-31			ENSG00000137691	ENSG00000137691			28188	protein-coding gene	gene with protein product							Standard	NM_032930		Approved	MGC13040	uc001pgp.3	Q9BRQ4	OTTHUMG00000167320	ENST00000434758.2:c.453C>T	11.37:g.101946621C>T						C11orf70_ENST00000526781.1_Silent_p.D151D|C11orf70_ENST00000434758.2_Silent_p.D151D	p.L96F	NM_001195005.1	NP_001181934.1	Q9BRQ4	CK070_HUMAN	Lung(13;0.245)	BRCA - Breast invasive adenocarcinoma(274;0.0335)	4	299	+	all_epithelial(12;0.0137)	Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.0137)	0					E9PJU1	Missense_Mutation	SNP	ENST00000434758.2	37	c.286C>T	CCDS8313.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.48|14.48	2.549003|2.549003	0.45383|0.45383	.|.	.|.	ENSG00000137691|ENSG00000137691	ENST00000534360|ENST00000529204	.|.	.|.	.|.	5.55|5.55	5.55|5.55	0.83447|0.83447	.|.	.|.	.|.	.|.	.|.	T|T	0.41373|0.41373	0.1156|0.1156	.|.	.|.	.|.	0.27152|0.27152	N|N	0.961383|0.961383	P|.	0.40107|.	0.703|.	B|.	0.38562|.	0.276|.	T|T	0.30387|0.30387	-0.9980|-0.9980	7|4	0.72032|.	D|.	0.01|.	-14.4847|-14.4847	10.9667|10.9667	0.47416|0.47416	0.0:0.8862:0.0:0.1138|0.0:0.8862:0.0:0.1138	.|.	96|.	E9PJU1|.	.|.	F|I	96|43	.|.	ENSP00000435482:L96F|.	L|T	+|+	1|2	0|0	C11orf70|C11orf70	101451831|101451831	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.991000|0.991000	0.79684|0.79684	2.392000|2.392000	0.44433|0.44433	2.767000|2.767000	0.95098|0.95098	0.563000|0.563000	0.77884|0.77884	CTC|ACT		0.323	C11orf70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394144.1	NM_032930		30	23	0	0	0	1	0	30	23					T	101946621	C	T	101946621	2	4	435	1	0	0	0	0	0	0	0	1	1659	564	20	3		3	C11orf70	11	101946621	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	117651	101946621	33059895	5385	26310											
BIRC3	330	broad.mit.edu	37	chr11	102195288	102195288	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttatcaaatttgatgaaaagCgccaacacgtttgaactgaa	16	11	7	7	2	1	4	1	4	0	0	1	4	1	4	1	0	3	1	1	0	7	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:102195288C>T	ENST00000263464.3	+	2	2798	c.48C>T	c.(46-48)agC>agT	p.S16S	BIRC3_ENST00000532808.1_Silent_p.S16S	NM_001165.4	NP_001156.1	Q13489	BIRC3_HUMAN	baculoviral IAP repeat containing 3	16					apoptotic process (GO:0006915)|cell surface receptor signaling pathway (GO:0007166)|innate immune response (GO:0045087)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of necroptotic process (GO:0060546)|negative regulation of phosphorylation (GO:0042326)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|NIK/NF-kappaB signaling (GO:0038061)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of protein ubiquitination (GO:0031398)|protein heterooligomerization (GO:0051291)|protein ubiquitination (GO:0016567)|regulation of apoptotic process (GO:0042981)|regulation of cysteine-type endopeptidase activity (GO:2000116)|regulation of inflammatory response (GO:0050727)|regulation of innate immune response (GO:0045088)|regulation of necroptotic process (GO:0060544)|regulation of nucleotide-binding oligomerization domain containing signaling pathway (GO:0070424)|regulation of RIG-I signaling pathway (GO:0039535)|regulation of toll-like receptor signaling pathway (GO:0034121)|spermatogenesis (GO:0007283)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane raft (GO:0045121)|nucleus (GO:0005634)|protein complex (GO:0043234)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(3)|kidney(2)|large_intestine(7)|lung(5)|ovary(3)|skin(1)	21	all_cancers(8;0.00044)|all_epithelial(12;0.00348)|Lung NSC(15;0.227)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0093)	Lung(13;0.109)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0146)		TGATGAAAAGCGCCAACACGT	0.403			T	MALT1	MALT																																	ENST00000263464.3				Dom	yes		11	11q22-q23	330	T	baculoviral IAP repeat-containing 3			L	MALT1		MALT		0				endometrium(3)|kidney(2)|large_intestine(7)|lung(5)|ovary(3)|skin(1)	21						c.(46-48)agC>agT		baculoviral IAP repeat containing 3							126	115	119					11																	102195288		2203	4299	6502	SO:0001819	synonymous_variant	330				anti-apoptosis|apoptosis|cell surface receptor linked signaling pathway	cytoplasm|nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr11:102195288C>T	L49432	CCDS8315.1	11q22	2011-01-25	2011-01-25			ENSG00000023445		"Baculoviral IAP repeat containing", "RING-type (C3HC4) zinc fingers"	591	protein-coding gene	gene with protein product	"apoptosis inhibitor 2", "TNFR2-TRAF signaling complex protein", "mammalian IAP homolog C", "inhibitor of apoptosis protein 1"	601721	"baculoviral IAP repeat-containing 3"	API2		8552191, 8548810	Standard	NM_001165		Approved	cIAP2, hiap-1, MIHC, RNF49, MALT2, c-IAP2	uc001pgx.3	Q13489		ENST00000263464.3:c.48C>T	11.37:g.102195288C>T						BIRC3_ENST00000532808.1_Silent_p.S16S	p.S16S	NM_001165.4	NP_001156.1	Q13489	BIRC3_HUMAN	Lung(13;0.109)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0146)	2	2798	+	all_cancers(8;0.00044)|all_epithelial(12;0.00348)|Lung NSC(15;0.227)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0093)	16					Q16628|Q9HC27|Q9UP46	Silent	SNP	ENST00000263464.3	37	c.48C>T	CCDS8315.1																																																																																				0.403	BIRC3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394159.1	NM_001165		21	48	0	0	0	1	0	21	48					T	102195288	C	T	102195288	2	4	435	1	0	0	0	0	0	0	0	1	1436	767	27	1		1	BIRC3	11	102195288	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	248667	102195288	32811228	5386	26311											
MMP12	4321	broad.mit.edu	37	chr11	102742417	102742417	+	RNA	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agcatgggctaggattccacCtttgccatcaaaagcatgga	12	9	10	10	0	1	0	1	0	0	0	2	2	2	2	3	3	3	3	3	3	3	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:102742417C>A	ENST00000532855.1	-	0	628							P39900	MMP12_HUMAN	matrix metallopeptidase 12 (macrophage elastase)						collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of epithelial cell proliferation involved in wound healing (GO:0060054)|proteolysis (GO:0006508)|wound healing, spreading of epidermal cells (GO:0035313)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|endopeptidase activity (GO:0004175)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	26		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.014)	Acetohydroxamic Acid(DB00551)|Marimastat(DB00786)	AGGATTCCACCTTTGCCATCA	0.443																																						ENST00000532855.1																			0				autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	26								matrix metallopeptidase 12 (macrophage elastase)	Acetohydroxamic Acid(DB00551)						49	48	48					11																	102742417		1908	4128	6036			4321				positive regulation of epithelial cell proliferation involved in wound healing|proteolysis|wound healing, spreading of epidermal cells	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding	g.chr11:102742417C>A	L23808	CCDS73375.1	11q22.3	2009-02-26	2005-08-08			ENSG00000262406			7158	protein-coding gene	gene with protein product		601046	"matrix metalloproteinase 12 (macrophage elastase)"				Standard	NM_002426		Approved	HME	uc001phk.3	P39900			11.37:g.102742417C>A										P39900	MMP12_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.014)	0	628	-		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)						B2R9X8|B7ZLF6|Q2M1L9	RNA	SNP	ENST00000532855.1	37																																																																																						0.443	MMP12-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000386646.1	NM_002426		4	9	1	0	0.150653	1	0.151081	4	9					A	102742417	C	A	102742417	1	1	435	0	1	0	0	0	0	0	0	0	9651	681	24	5		5	MMP12	11	102742417	RNA	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	547129	102742417	32264099	5387	26312											
MMP12	4321	broad.mit.edu	37	chr11	102742654	102742654	+	RNA	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgcgtagtcaacatcctcacGgttcatgtcaggtgtgtaat	9	13	10	9	2	4	0	4	0	0	0	5	0	5	0	1	2	2	3	1	2	3	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:102742654G>A	ENST00000532855.1	-	0	475							P39900	MMP12_HUMAN	matrix metallopeptidase 12 (macrophage elastase)						collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of epithelial cell proliferation involved in wound healing (GO:0060054)|proteolysis (GO:0006508)|wound healing, spreading of epidermal cells (GO:0035313)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|endopeptidase activity (GO:0004175)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	26		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.014)	Acetohydroxamic Acid(DB00551)|Marimastat(DB00786)	ACATCCTCACGGTTCATGTCA	0.378																																						ENST00000532855.1																			0				autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	26								matrix metallopeptidase 12 (macrophage elastase)	Acetohydroxamic Acid(DB00551)						69	67	68					11																	102742654		1916	4140	6056			4321				positive regulation of epithelial cell proliferation involved in wound healing|proteolysis|wound healing, spreading of epidermal cells	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding	g.chr11:102742654G>A	L23808	CCDS73375.1	11q22.3	2009-02-26	2005-08-08			ENSG00000262406			7158	protein-coding gene	gene with protein product		601046	"matrix metalloproteinase 12 (macrophage elastase)"				Standard	NM_002426		Approved	HME	uc001phk.3	P39900			11.37:g.102742654G>A										P39900	MMP12_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.014)	0	475	-		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)						B2R9X8|B7ZLF6|Q2M1L9	RNA	SNP	ENST00000532855.1	37																																																																																						0.378	MMP12-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000386646.1	NM_002426		4	9	0	0	0	1	0	4	9					A	102742654	G	A	102742654	1	1	435	0	1	0	0	0	0	0	0	0	9651	1116	39	2		2	MMP12	11	102742654	RNA	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	237	102742654	32263862	5388	26313											
DDI1	414301	broad.mit.edu	37	chr11	103908404	103908404	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	catgaggctggtggaccgacGgtgggctggggttgctaaag	7	8	19	7	2	0	1	0	1	0	0	0	3	0	2	1	7	1	4	1	7	2	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:103908404G>A	ENST00000302259.3	+	1	1097	c.854G>A	c.(853-855)cGg>cAg	p.R285Q	PDGFD_ENST00000302251.5_Intron|PDGFD_ENST00000393158.2_Intron	NM_001001711.2	NP_001001711.1	Q8WTU0	DDI1_HUMAN	DNA-damage inducible 1 homolog 1 (S. cerevisiae)	285							aspartic-type endopeptidase activity (GO:0004190)			central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(12)|liver(2)|lung(21)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00648)|Melanoma(852;0.055)|all_neural(303;0.164)		BRCA - Breast invasive adenocarcinoma(274;0.00128)|Epithelial(105;0.0631)|all cancers(92;0.169)		GTGGACCGACGGTGGGCTGGG	0.512																																						ENST00000302259.3																			0				central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(12)|liver(2)|lung(21)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						c.(853-855)cGg>cAg		DNA-damage inducible 1 homolog 1 (S. cerevisiae)							104	98	100					11																	103908404		2202	4299	6501	SO:0001583	missense	414301				proteolysis		aspartic-type endopeptidase activity	g.chr11:103908404G>A		CCDS31660.1	11q22.3	2010-05-04	2010-05-04			ENSG00000170967			18961	protein-coding gene	gene with protein product			"DDI1, DNA-damage inducible 1, homolog 1 (S. cerevisiae)"				Standard	NM_001001711		Approved	FLJ36017	uc001phr.2	Q8WTU0		ENST00000302259.3:c.854G>A	11.37:g.103908404G>A	ENSP00000302805:p.Arg285Gln					PDGFD_ENST00000393158.2_Intron|PDGFD_ENST00000302251.5_Intron	p.R285Q	NM_001001711.2	NP_001001711.1	Q8WTU0	DDI1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.00128)|Epithelial(105;0.0631)|all cancers(92;0.169)	1	1097	+		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00648)|Melanoma(852;0.055)|all_neural(303;0.164)	285					Q7Z4U6|Q8WTS3	Missense_Mutation	SNP	ENST00000302259.3	37	c.854G>A	CCDS31660.1	.	.	.	.	.	.	.	.	.	.	G	17.85	3.489586	0.64074	.	.	ENSG00000170967	ENST00000302259	T	0.54479	0.57	5.21	4.3	0.51218	Peptidase aspartic (1);Peptidase aspartic, eukaryotic predicted (1);Peptidase aspartic, catalytic (1);	0.000000	0.85682	D	0.000000	T	0.77877	0.4196	M	0.93720	3.45	0.21719	N	0.999578	D	0.89917	1.0	D	0.85130	0.997	T	0.72659	-0.4226	10	0.87932	D	0	-11.3261	12.2687	0.54693	0.0827:0.0:0.9173:0.0	.	285	Q8WTU0	DDI1_HUMAN	Q	285	ENSP00000302805:R285Q	ENSP00000302805:R285Q	R	+	2	0	DDI1	103413614	0.999000	0.42202	0.003000	0.11579	0.431000	0.31685	8.821000	0.92009	1.569000	0.49696	0.655000	0.94253	CGG		0.512	DDI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387326.1	NM_001001711		25	45	0	0	0	1	0	25	45					A	103908404	G	A	103908404	3	1	435	1	0	0	0	0	1	0	0	0	4328	1116	39	2	856	2	DDI1	11	103908404	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	1165750	103908404	31098112	5389	26314											
PDGFD	80310	broad.mit.edu	37	chr11	104034652	104034652	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtagacaaagatgagccggtGcatttgggatcagcgactag	12	8	14	7	2	1	3	1	1	0	2	1	5	1	4	1	2	3	2	1	2	3	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:104034652G>A	ENST00000393158.2	-	1	183	c.4C>T	c.(4-6)Cac>Tac	p.H2Y	PDGFD_ENST00000302251.5_Missense_Mutation_p.H2Y			Q9GZP0	PDGFD_HUMAN	platelet derived growth factor D	2					cellular response to amino acid stimulus (GO:0071230)|multicellular organismal development (GO:0007275)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of cell division (GO:0051781)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)				biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(8)|prostate(3)|upper_aerodigestive_tract(1)	23		Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Melanoma(852;0.0563)|all_neural(303;0.165)		BRCA - Breast invasive adenocarcinoma(274;0.00136)|Epithelial(105;0.111)		ATGAGCCGGTGCATTTGGGAT	0.602											OREG0021315	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000302251.5																			0				biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(8)|prostate(3)|upper_aerodigestive_tract(1)	23						c.(4-6)Cac>Tac		platelet derived growth factor D							54	54	54					11																	104034652		2202	4299	6501	SO:0001583	missense	80310				positive regulation of cell division	endoplasmic reticulum lumen|extracellular region|Golgi membrane	growth factor activity	g.chr11:104034652G>A	AF113216	CCDS8326.1, CCDS41703.1	11q22.3	2008-02-05			ENSG00000170962	ENSG00000170962			30620	protein-coding gene	gene with protein product	"spinal cord derived growth factor B"	609673				11162582, 11980634	Standard	NM_033135		Approved	SCDGF-B, MSTP036, IEGF	uc001phq.3	Q9GZP0	OTTHUMG00000165953	ENST00000393158.2:c.4C>T	11.37:g.104034652G>A	ENSP00000376865:p.His2Tyr		OREG0021315	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1378	PDGFD_ENST00000393158.2_Missense_Mutation_p.H2Y	p.H2Y	NM_025208.4|NM_033135.3	NP_079484.1|NP_149126.1	Q9GZP0	PDGFD_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.00136)|Epithelial(105;0.111)	1	455	-		Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Melanoma(852;0.0563)|all_neural(303;0.165)	2					A8K9T6|Q9BWV5	Missense_Mutation	SNP	ENST00000393158.2	37	c.4C>T	CCDS41703.1	.	.	.	.	.	.	.	.	.	.	G	11.95	1.791203	0.31685	.	.	ENSG00000170962	ENST00000393158;ENST00000302251	T;T	0.24723	1.84;1.84	5.15	4.03	0.46877	.	0.713327	0.12615	N	0.453529	T	0.14270	0.0345	N	0.08118	0	0.21220	N	0.999759	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.09640	-1.0665	10	0.41790	T	0.15	-2.6707	11.4148	0.49945	0.1023:0.0:0.8977:0.0	.	2;2	Q9GZP0;Q9GZP0-2	PDGFD_HUMAN;.	Y	2	ENSP00000376865:H2Y;ENSP00000302193:H2Y	ENSP00000302193:H2Y	H	-	1	0	PDGFD	103539862	1.000000	0.71417	0.999000	0.59377	0.548000	0.35241	3.725000	0.54970	2.393000	0.81446	0.650000	0.86243	CAC		0.602	PDGFD-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000387231.2	NM_025208		9	21	0	0	0	1	0	9	21					A	104034652	G	A	104034652	3	1	435	1	0	0	0	0	1	0	0	0	11660	1319	46	3	1136	3	PDGFD	11	104034652	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	126248	104034652	30971864	5390	26315											
GRIA4	2893	broad.mit.edu	37	chr11	105483076	105483076	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	atttttcttcataacaccagCcccaatgcgtcggaagctcc	10	11	6	14	2	2	0	1	0	1	0	4	1	3	1	4	1	4	1	4	1	3	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:105483076C>T	ENST00000530497.1	+	2	162	c.162C>T	c.(160-162)agC>agT	p.S54S	GRIA4_ENST00000393125.2_Silent_p.S54S|GRIA4_ENST00000527669.1_Silent_p.S54S|GRIA4_ENST00000525187.1_Silent_p.S54S|GRIA4_ENST00000393127.2_Silent_p.S54S|GRIA4_ENST00000428631.2_Silent_p.S54S|GRIA4_ENST00000282499.5_Silent_p.S54S			P48058	GRIA4_HUMAN	glutamate receptor, ionotropic, AMPA 4	54				S -> A (in Ref. 1; AAA95962). {ECO:0000305}.	glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|vesicle (GO:0031982)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)|ionotropic glutamate receptor activity (GO:0004970)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(24)|liver(2)|lung(25)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	82		Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323)		BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899)		ATAACACCAGCCCCAATGCGT	0.403																																						ENST00000393127.2																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(24)|liver(2)|lung(25)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	82						c.(160-162)agC>agT		glutamate receptor, ionotropic, AMPA 4	L-Glutamic Acid(DB00142)						136	119	125					11																	105483076		2202	4299	6501	SO:0001819	synonymous_variant	0				glutamate signaling pathway|synaptic transmission	cell junction|endocytic vesicle membrane|integral to membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity	g.chr11:105483076C>T	U16129	CCDS8333.1, CCDS41706.1, CCDS41707.1	11q22	2012-08-29	2012-02-03		ENSG00000152578	ENSG00000152578		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4574	protein-coding gene	gene with protein product		138246	"glutamate receptor, ionotrophic, AMPA 4"	GLUR4			Standard	NM_001077244		Approved	GluA4, GLURD	uc001pix.2	P48058	OTTHUMG00000166236	ENST00000530497.1:c.162C>T	11.37:g.105483076C>T						GRIA4_ENST00000428631.2_Silent_p.S54S|GRIA4_ENST00000393125.2_Silent_p.S54S|GRIA4_ENST00000527669.1_Silent_p.S54S|GRIA4_ENST00000282499.5_Silent_p.S54S|GRIA4_ENST00000530497.1_Silent_p.S54S|GRIA4_ENST00000525187.1_Silent_p.S54S	p.S54S	NM_001077243.2	NP_001070711.2	P48058	GRIA4_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899)	3	608	+		Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323)	54	S -> A (in Ref. 1; AAA95962).				Q86XE8	Silent	SNP	ENST00000530497.1	37	c.162C>T	CCDS8333.1																																																																																				0.403	GRIA4-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000388593.1			16	71	0	0	0	1	0	16	71					T	105483076	C	T	105483076	2	4	435	1	0	0	0	0	0	0	0	1	6770	738	26	3		3	GRIA4	11	105483076	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	1448424	105483076	29523440	5391	26316											
KIAA1826	84437	broad.mit.edu	37	chr11	105880389	105880389	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tatccttttccagttgcaagCgttctcgctcaagttttaac	8	16	6	11	2	2	0	1	0	1	0	5	0	4	0	2	0	3	5	2	0	4	7	rs377459704		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:105880389C>T	ENST00000301919.4	-	3	2326	c.911G>A	c.(910-912)cGc>cAc	p.R304H	MSANTD4_ENST00000529805.1_5'UTR	NM_032424.1	NP_115800.1	Q8NCY6	MSD4_HUMAN	Myb/SANT-like DNA-binding domain containing 4 with coiled-coils	304						nucleus (GO:0005634)											CAGTTGCAAGCGTTCTCGCTC	0.418																																						ENST00000301919.4																			0											c.(910-912)cGc>cAc		Myb/SANT-like DNA-binding domain containing 4 with coiled-coils							155	140	145					11																	105880389		2201	4298	6499	SO:0001583	missense	84437					nucleus		g.chr11:105880389C>T	AB058729	CCDS31663.1	11q22	2012-03-13	2012-03-13	2012-03-13	ENSG00000170903	ENSG00000170903			29383	protein-coding gene	gene with protein product			"KIAA1826"	KIAA1826			Standard	XM_005271697		Approved		uc001piz.3	Q8NCY6	OTTHUMG00000166240	ENST00000301919.4:c.911G>A	11.37:g.105880389C>T	ENSP00000304713:p.Arg304His					MSANTD4_ENST00000529805.1_5'UTR	p.R304H	NM_032424.1	NP_115800.1	Q8NCY6	K1826_HUMAN			3	2326	-			304					Q96JK1|Q96JZ3|Q9H2N4	Missense_Mutation	SNP	ENST00000301919.4	37	c.911G>A	CCDS31663.1	.	.	.	.	.	.	.	.	.	.	C	13.27	2.186605	0.38609	.	.	ENSG00000170903	ENST00000301919	.	.	.	5.22	5.22	0.72569	.	0.053032	0.64402	D	0.000001	T	0.41003	0.1140	N	0.17082	0.46	0.42174	D	0.991657	B	0.11235	0.004	B	0.06405	0.002	T	0.26258	-1.0108	9	0.37606	T	0.19	-12.6486	12.4932	0.55912	0.0:0.9229:0.0:0.0771	.	304	Q8NCY6	K1826_HUMAN	H	304	.	ENSP00000304713:R304H	R	-	2	0	KIAA1826	105385599	1.000000	0.71417	1.000000	0.80357	0.710000	0.40934	5.151000	0.64875	2.587000	0.87381	0.491000	0.48974	CGC		0.418	MSANTD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388619.1	NM_032424		6	89	0	0	0	1	0	6	89					T	105880389	C	T	105880389	3	4	435	1	0	0	0	0	1	0	0	0	8260	768	27	1	130	1	KIAA1826	11	105880389	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	397313	105880389	29126127	5392	26317											
KBTBD3	143879	broad.mit.edu	37	chr11	105925166	105925166	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atcatctctttctttcatgtTtacttcaaacatagccctgc	9	17	3	12	0	5	0	3	0	2	0	6	0	5	0	1	0	4	1	1	0	3	6			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:105925166T>C	ENST00000526793.1	-	3	409	c.250A>G	c.(250-252)Aac>Gac	p.N84D	KBTBD3_ENST00000534815.1_Missense_Mutation_p.N5D|KBTBD3_ENST00000531837.1_Missense_Mutation_p.N84D	NM_152433.3	NP_689646.2	Q8NAB2	KBTB3_HUMAN	kelch repeat and BTB (POZ) domain containing 3	80	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.									NS(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|prostate(1)	25		Melanoma(852;0.000878)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0321)		BRCA - Breast invasive adenocarcinoma(274;5.43e-05)|Epithelial(105;0.00418)|all cancers(92;0.0299)		TCTTTCATGTTTACTTCAAAC	0.303																																						ENST00000526793.1																			0				NS(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|prostate(1)	25						c.(250-252)Aac>Gac		kelch repeat and BTB (POZ) domain containing 3							46	46	46					11																	105925166		2201	4298	6499	SO:0001583	missense	143879							g.chr11:105925166T>C	AK055247	CCDS8334.1	11q22.3	2013-01-08	2003-12-12	2003-12-17		ENSG00000182359		"BTB/POZ domain containing"	22934	protein-coding gene	gene with protein product			"BTB and kelch domain containing 3"	BKLHD3			Standard	NM_198439		Approved		uc001pjb.3	Q8NAB2		ENST00000526793.1:c.250A>G	11.37:g.105925166T>C	ENSP00000436262:p.Asn84Asp					KBTBD3_ENST00000531837.1_Missense_Mutation_p.N84D|KBTBD3_ENST00000534815.1_Missense_Mutation_p.N5D	p.N84D	NM_152433.3	NP_689646.2	Q8NAB2	KBTB3_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.43e-05)|Epithelial(105;0.00418)|all cancers(92;0.0299)	3	409	-		Melanoma(852;0.000878)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0321)	80			BTB.		Q6N066|Q86X38|Q96NK5	Missense_Mutation	SNP	ENST00000526793.1	37	c.250A>G	CCDS8334.1	.	.	.	.	.	.	.	.	.	.	T	0.535	-0.856234	0.02630	.	.	ENSG00000182359	ENST00000534815;ENST00000526793;ENST00000531837;ENST00000532662	T;T;T;T	0.70631	-0.5;-0.5;-0.5;-0.5	5.36	4.24	0.50183	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.088451	0.85682	D	0.000000	T	0.41073	0.1143	N	0.03224	-0.385	0.33061	D	0.534118	B;B	0.09022	0.001;0.002	B;B	0.10450	0.001;0.005	T	0.44772	-0.9306	10	0.02654	T	1	.	10.5973	0.45345	0.0:0.075:0.0:0.925	.	84;80	A8K1K0;Q8NAB2	.;KBTB3_HUMAN	D	5;84;84;5	ENSP00000431910:N5D;ENSP00000436262:N84D;ENSP00000432163:N84D;ENSP00000433493:N5D	ENSP00000436262:N84D	N	-	1	0	KBTBD3	105430376	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.740000	0.55082	2.033000	0.60031	0.528000	0.53228	AAC		0.303	KBTBD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388705.2	NM_152433		15	18	0	0	0	1	0	15	18					C	105925166	T	C	105925166	3	2	435	1	0	0	0	0	1	0	0	0	7994	1841	64	4	1592	4	KBTBD3	11	105925166	Missense_Mutation	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	44777	105925166	29081350	5393	26318											
CWF19L2	143884	broad.mit.edu	37	chr11	107260807	107260807	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaatatatcttaccttagatGccattctcataaagagcttg	13	14	6	8	0	2	2	1	0	2	2	3	3	2	2	2	0	3	1	2	0	7	7			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:107260807G>A	ENST00000282251.5	-	12	1892	c.1865C>T	c.(1864-1866)gCa>gTa	p.A622V	CWF19L2_ENST00000433523.1_Missense_Mutation_p.A622V	NM_152434.2	NP_689647.2	Q2TBE0	C19L2_HUMAN	CWF19-like 2, cell cycle control (S. pombe)	622							catalytic activity (GO:0003824)			endometrium(4)|kidney(2)|large_intestine(13)|lung(21)	40		Melanoma(852;1.75e-05)|all_epithelial(67;6.27e-05)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0258)		Epithelial(105;7.18e-06)|BRCA - Breast invasive adenocarcinoma(274;1.65e-05)|all cancers(92;1.76e-05)		TACCTTAGATGCCATTCTCAT	0.338																																						ENST00000282251.5																			0				endometrium(4)|kidney(2)|large_intestine(13)|lung(21)	40						c.(1864-1866)gCa>gTa		CWF19-like 2, cell cycle control (S. pombe)							150	123	132					11																	107260807		2201	4294	6495	SO:0001583	missense	143884						catalytic activity	g.chr11:107260807G>A	AK056905	CCDS8336.2	11q23.1	2005-09-22			ENSG00000152404	ENSG00000152404			26508	protein-coding gene	gene with protein product						14702039	Standard	NM_152434		Approved	FLJ32343	uc010rvp.2	Q2TBE0	OTTHUMG00000152975	ENST00000282251.5:c.1865C>T	11.37:g.107260807G>A	ENSP00000282251:p.Ala622Val					CWF19L2_ENST00000433523.1_Missense_Mutation_p.A622V	p.A622V	NM_152434.2	NP_689647.2	Q2TBE0	C19L2_HUMAN		Epithelial(105;7.18e-06)|BRCA - Breast invasive adenocarcinoma(274;1.65e-05)|all cancers(92;1.76e-05)	12	1892	-		Melanoma(852;1.75e-05)|all_epithelial(67;6.27e-05)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0258)	622					A4FU66|A4FU67|A4FU68|Q6PHW1|Q96MI1	Missense_Mutation	SNP	ENST00000282251.5	37	c.1865C>T	CCDS8336.2	.	.	.	.	.	.	.	.	.	.	G	17.36	3.369056	0.61624	.	.	ENSG00000152404	ENST00000282251;ENST00000433523	T;T	0.26810	1.71;1.71	5.81	4.89	0.63831	.	0.095264	0.64402	D	0.000001	T	0.23649	0.0572	L	0.45422	1.42	0.48395	D	0.999647	B	0.24043	0.096	B	0.23419	0.046	T	0.02698	-1.1122	10	0.48119	T	0.1	-11.4695	13.0271	0.58821	0.0798:0.0:0.9202:0.0	.	622	Q2TBE0	C19L2_HUMAN	V	622	ENSP00000282251:A622V;ENSP00000387533:A622V	ENSP00000282251:A622V	A	-	2	0	CWF19L2	106766017	1.000000	0.71417	1.000000	0.80357	0.906000	0.53458	5.402000	0.66332	2.739000	0.93911	0.563000	0.77884	GCA		0.338	CWF19L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328825.2	NM_152434		9	31	0	0	0	1	0	9	31					A	107260807	G	A	107260807	3	1	435	1	0	0	0	0	1	0	0	0	4072	1319	46	3	847	3	CWF19L2	11	107260807	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	1335641	107260807	27745709	5394	26319											
SLC35F2	54733	broad.mit.edu	37	chr11	107677515	107677515	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acccaacagacagacagccaCggcgatgaagtggatcactc	14	4	10	13	2	1	3	1	1	0	2	2	5	1	4	2	2	2	0	2	2	2	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:107677515C>T	ENST00000525815.1	-	4	922	c.502G>A	c.(502-504)Gtg>Atg	p.V168M	SLC35F2_ENST00000429869.1_Missense_Mutation_p.V168M|SLC35F2_ENST00000265836.7_Missense_Mutation_p.V20M|SLC35F2_ENST00000375682.4_Missense_Mutation_p.V121M|SLC35F2_ENST00000525071.1_Missense_Mutation_p.V168M	NM_017515.4	NP_059985.2	Q8IXU6	S35F2_HUMAN	solute carrier family 35, member F2	168					transport (GO:0006810)	integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|endometrium(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8		all_cancers(61;9.46e-06)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;0.000111)|all_hematologic(158;0.000315)|all_epithelial(67;0.00197)|Breast(348;0.104)		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)|Epithelial(105;0.000105)|all cancers(92;0.00217)		CAGACAGCCACGGCGATGAAG	0.478																																						ENST00000525071.1																			0				breast(1)|central_nervous_system(1)|endometrium(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8						c.(502-504)Gtg>Atg		solute carrier family 35, member F2							134	134	134					11																	107677515		2005	4174	6179	SO:0001583	missense	54733				transport	integral to membrane		g.chr11:107677515C>T		CCDS41709.1	11q22.3	2013-05-22			ENSG00000110660	ENSG00000110660		"Solute carriers"	23615	protein-coding gene	gene with protein product						9119394	Standard	NM_017515		Approved	FLJ13018	uc001pjq.3	Q8IXU6	OTTHUMG00000166366	ENST00000525815.1:c.502G>A	11.37:g.107677515C>T	ENSP00000436785:p.Val168Met					SLC35F2_ENST00000375682.4_Missense_Mutation_p.V121M|SLC35F2_ENST00000525815.1_Missense_Mutation_p.V168M|SLC35F2_ENST00000429869.1_Missense_Mutation_p.V168M|SLC35F2_ENST00000265836.7_Missense_Mutation_p.V20M	p.V168M			Q8IXU6	S35F2_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)|Epithelial(105;0.000105)|all cancers(92;0.00217)	7	1090	-		all_cancers(61;9.46e-06)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;0.000111)|all_hematologic(158;0.000315)|all_epithelial(67;0.00197)|Breast(348;0.104)	168					Q14963|Q5JPA8|Q6ZRQ3|Q9H947	Missense_Mutation	SNP	ENST00000525815.1	37	c.502G>A	CCDS41709.1	.	.	.	.	.	.	.	.	.	.	C	18.74	3.689351	0.68271	.	.	ENSG00000110660	ENST00000525815;ENST00000525071;ENST00000265836;ENST00000375682;ENST00000429869	T;T;T;T	0.70282	-0.47;-0.47;-0.47;-0.47	4.86	4.86	0.63082	.	0.000000	0.85682	D	0.000000	D	0.86752	0.6008	M	0.88704	2.975	0.58432	D	0.999999	D;D	0.76494	0.999;0.999	D;D	0.79108	0.99;0.992	D	0.89739	0.3932	10	0.87932	D	0	.	18.0192	0.89250	0.0:1.0:0.0:0.0	.	168;168	E9PJD1;Q8IXU6	.;S35F2_HUMAN	M	168;168;20;121;168	ENSP00000436785:V168M;ENSP00000434307:V168M;ENSP00000364834:V121M;ENSP00000393571:V168M	ENSP00000265836:V20M	V	-	1	0	SLC35F2	107182725	1.000000	0.71417	0.910000	0.35882	0.217000	0.24651	7.277000	0.78572	2.245000	0.73994	0.655000	0.94253	GTG		0.478	SLC35F2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389417.1	NM_017515		19	26	0	0	0	1	0	19	26					T	107677515	C	T	107677515	3	4	435	1	0	0	0	0	1	0	0	0	14589	536	19	1	642	1	SLC35F2	11	107677515	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	416708	107677515	27329001	5395	26320											
RAB39	54734	broad.mit.edu	37	chr11	107832960	107832960	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gaatccttcacaatcttgacGagagacatatatgaacttat	15	12	6	8	1	2	3	1	2	1	1	3	6	3	3	1	0	1	0	1	0	6	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:107832960G>A	ENST00000320578.2	+	2	582	c.516G>A	c.(514-516)acG>acA	p.T172T		NM_017516.1	NP_059986.1	Q14964	RB39A_HUMAN	RAB39A, member RAS oncogene family	172					phagosome acidification (GO:0090383)|phagosome-lysosome fusion (GO:0090385)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)										CAATCTTGACGAGAGACATAT	0.383																																						ENST00000320578.2																			0											c.(514-516)acG>acA		RAB39A, member RAS oncogene family							79	81	80					11																	107832960		2201	4298	6499	SO:0001819	synonymous_variant	54734				protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding	g.chr11:107832960G>A	X99962	CCDS8338.1	11q22.3	2011-11-22	2011-11-22	2011-11-22	ENSG00000179331	ENSG00000179331		"RAB, member RAS oncogene"	16521	protein-coding gene	gene with protein product	"rab-related GTP-binding protein"		"RAB39, member RAS oncogene family"	RAB39		9119394	Standard	NM_017516		Approved		uc001pjt.3	Q14964	OTTHUMG00000166367	ENST00000320578.2:c.516G>A	11.37:g.107832960G>A							p.T172T	NM_017516.1	NP_059986.1	Q14964	RB39A_HUMAN			2	582	+			172					A8KAA4|Q8N6W2	Silent	SNP	ENST00000320578.2	37	c.516G>A	CCDS8338.1																																																																																				0.383	RAB39A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389423.1	NM_017516		20	27	0	0	0	1	0	20	27					A	107832960	G	A	107832960	2	1	435	1	0	0	0	0	0	0	0	1	12929	1045	37	2		2	RAB39	11	107832960	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	155445	107832960	27173556	5396	26321											
CUL5	8065	broad.mit.edu	37	chr11	107920642	107920642	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	actgagccatcaagatgataCggctttgctaaaagcatata	15	10	8	8	1	1	3	1	2	0	1	1	3	1	3	1	1	4	3	1	1	6	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:107920642C>T	ENST00000393094.2	+	4	876	c.260C>T	c.(259-261)aCg>aTg	p.T87M		NM_003478.3	NP_003469.2	Q93034	CUL5_HUMAN	cullin 5	87					calcium ion transmembrane transport (GO:0070588)|cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|cytosolic calcium ion homeostasis (GO:0051480)|G1/S transition of mitotic cell cycle (GO:0000082)|intrinsic apoptotic signaling pathway (GO:0097193)|negative regulation of cell proliferation (GO:0008285)|protein ubiquitination (GO:0016567)|response to osmotic stress (GO:0006970)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	Cul5-RING ubiquitin ligase complex (GO:0031466)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|receptor activity (GO:0004872)|ubiquitin protein ligase binding (GO:0031625)			endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(1)|prostate(1)|skin(1)	23		all_cancers(61;7.09e-10)|all_epithelial(67;2.97e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|Melanoma(852;4.48e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		BRCA - Breast invasive adenocarcinoma(274;3.58e-05)|Epithelial(105;4.68e-05)|all cancers(92;0.00122)|OV - Ovarian serous cystadenocarcinoma(223;0.217)		CAAGATGATACGGCTTTGCTA	0.323																																						ENST00000393094.2																			0				endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(1)|prostate(1)|skin(1)	23						c.(259-261)aCg>aTg		cullin 5							85	79	81					11																	107920642		2201	4298	6499	SO:0001583	missense	8065				cell cycle arrest|cell proliferation|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|ubiquitin-dependent protein catabolic process|viral reproduction	cullin-RING ubiquitin ligase complex|cytosol	calcium channel activity|receptor activity|ubiquitin protein ligase binding	g.chr11:107920642C>T	X81882	CCDS31668.1	11q22.3	2011-05-24			ENSG00000166266	ENSG00000166266			2556	protein-coding gene	gene with protein product		601741				8681378, 9037604	Standard	XM_005271682		Approved	VACM-1	uc001pjv.3	Q93034	OTTHUMG00000166369	ENST00000393094.2:c.260C>T	11.37:g.107920642C>T	ENSP00000376808:p.Thr87Met						p.T87M	NM_003478.3	NP_003469.2	Q93034	CUL5_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.58e-05)|Epithelial(105;4.68e-05)|all cancers(92;0.00122)|OV - Ovarian serous cystadenocarcinoma(223;0.217)	4	876	+		all_cancers(61;7.09e-10)|all_epithelial(67;2.97e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|Melanoma(852;4.48e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)	87					A8K960|O14766|Q9BZC6	Missense_Mutation	SNP	ENST00000393094.2	37	c.260C>T	CCDS31668.1	.	.	.	.	.	.	.	.	.	.	C	20.1	3.933436	0.73442	.	.	ENSG00000166266	ENST00000393094	T	0.31769	1.48	5.83	5.83	0.93111	Cullin, N-terminal (1);Cullin repeat-like-containing domain (1);	0.098909	0.64402	D	0.000001	T	0.29945	0.0749	L	0.36672	1.1	0.80722	D	1	P	0.42871	0.792	B	0.38156	0.266	T	0.06373	-1.0830	10	0.72032	D	0.01	-18.7075	20.1338	0.98010	0.0:1.0:0.0:0.0	.	87	Q93034	CUL5_HUMAN	M	87	ENSP00000376808:T87M	ENSP00000376808:T87M	T	+	2	0	CUL5	107425852	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.786000	0.85741	2.770000	0.95276	0.655000	0.94253	ACG		0.323	CUL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389429.1			9	31	0	0	0	1	0	9	31					T	107920642	C	T	107920642	3	4	435	1	0	0	0	0	1	0	0	0	4059	536	19	1	274	1	CUL5	11	107920642	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	87682	107920642	27085874	5397	26322											
ACAT1	38	broad.mit.edu	37	chr11	108014721	108014721	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tttaaacagcatttgctgacGctgctgtagaacctattgat	11	14	8	8	1	0	3	0	2	0	1	0	3	0	3	1	0	5	5	1	0	5	6			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:108014721G>A	ENST00000265838.4	+	10	1043	c.952G>A	c.(952-954)Gct>Act	p.A318T		NM_000019.3	NP_000010.1	P24752	THIL_HUMAN	acetyl-CoA acetyltransferase 1	318					adipose tissue development (GO:0060612)|brain development (GO:0007420)|branched-chain amino acid catabolic process (GO:0009083)|cellular ketone body metabolic process (GO:0046950)|cellular lipid metabolic process (GO:0044255)|cellular nitrogen compound metabolic process (GO:0034641)|ketone body biosynthetic process (GO:0046951)|ketone body catabolic process (GO:0046952)|liver development (GO:0001889)|metanephric proximal convoluted tubule development (GO:0072229)|protein homooligomerization (GO:0051260)|response to hormone (GO:0009725)|response to organic cyclic compound (GO:0014070)|response to starvation (GO:0042594)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	acetyl-CoA C-acetyltransferase activity (GO:0003985)|coenzyme binding (GO:0050662)|metal ion binding (GO:0046872)			endometrium(1)|large_intestine(1)|lung(3)|ovary(3)|prostate(2)	10		all_cancers(61;6.41e-10)|all_epithelial(67;2.83e-06)|Melanoma(852;1.46e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		BRCA - Breast invasive adenocarcinoma(274;2.96e-05)|Epithelial(105;4.35e-05)|all cancers(92;0.00108)|OV - Ovarian serous cystadenocarcinoma(223;0.192)	Sulfasalazine(DB00795)	ATTTGCTGACGCTGCTGTAGA	0.398																																						ENST00000265838.4																			0				endometrium(1)|large_intestine(1)|lung(3)|ovary(3)|prostate(2)	10						c.(952-954)Gct>Act		acetyl-CoA acetyltransferase 1	Sulfasalazine(DB00795)						108	111	110					11																	108014721		2201	4298	6499	SO:0001583	missense	38				acetoacetic acid biosynthetic process|branched chain family amino acid catabolic process|ketone body biosynthetic process|ketone body catabolic process	mitochondrial matrix	acetyl-CoA C-acetyltransferase activity|metal ion binding	g.chr11:108014721G>A	D90228	CCDS8339.1	11q22.3	2010-04-30	2010-04-30		ENSG00000075239	ENSG00000075239	2.3.1.9		93	protein-coding gene	gene with protein product	"acetoacetyl Coenzyme A thiolase"	607809	"acetyl-Coenzyme A acetyltransferase 1"	ACAT		1979337	Standard	NM_000019		Approved	THIL	uc001pjy.3	P24752	OTTHUMG00000166381	ENST00000265838.4:c.952G>A	11.37:g.108014721G>A	ENSP00000265838:p.Ala318Thr						p.A318T	NM_000019.3	NP_000010.1	P24752	THIL_HUMAN		BRCA - Breast invasive adenocarcinoma(274;2.96e-05)|Epithelial(105;4.35e-05)|all cancers(92;0.00108)|OV - Ovarian serous cystadenocarcinoma(223;0.192)	10	1043	+		all_cancers(61;6.41e-10)|all_epithelial(67;2.83e-06)|Melanoma(852;1.46e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)	318					B2R6H1|G3XAB4|Q96FG8	Missense_Mutation	SNP	ENST00000265838.4	37	c.952G>A	CCDS8339.1	.	.	.	.	.	.	.	.	.	.	G	31	5.074731	0.94000	.	.	ENSG00000075239	ENST00000265838	D	0.93247	-3.19	5.47	4.54	0.55810	Thiolase-like, subgroup (1);Thiolase-like (1);Thiolase, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.95755	0.8619	M	0.75884	2.315	0.80722	D	1	D	0.67145	0.996	P	0.60682	0.878	D	0.95925	0.8934	10	0.66056	D	0.02	-26.456	15.5022	0.75709	0.0:0.0:0.8606:0.1394	.	318	P24752	THIL_HUMAN	T	318	ENSP00000265838:A318T	ENSP00000265838:A318T	A	+	1	0	ACAT1	107519931	1.000000	0.71417	0.998000	0.56505	0.768000	0.43524	9.386000	0.97228	1.286000	0.44565	0.655000	0.94253	GCT		0.398	ACAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389474.1	NM_000019		29	45	0	0	0	1	0	29	45					A	108014721	G	A	108014721	3	1	435	1	0	0	0	0	1	0	0	0	121	1087	38	1	990	1	ACAT1	11	108014721	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	94079	108014721	26991795	5398	26323											
ATM	472	broad.mit.edu	37	chr11	108139244	108139244	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctactgctcagaccaatactGtgtcctttagggcagctgat	9	12	9	11	0	1	2	1	1	0	1	2	2	2	2	2	1	4	3	2	1	4	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:108139244G>A	ENST00000452508.2	+	19	2935	c.2746G>A	c.(2746-2748)Gtg>Atg	p.V916M	AP001925.1_ENST00000596081.1_5'Flank|ATM_ENST00000278616.4_Missense_Mutation_p.V916M			Q13315	ATM_HUMAN	ATM serine/threonine kinase	916					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|DNA damage induced protein phosphorylation (GO:0006975)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|heart development (GO:0007507)|histone mRNA catabolic process (GO:0071044)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|lipoprotein catabolic process (GO:0042159)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of B cell proliferation (GO:0030889)|neuron apoptotic process (GO:0051402)|oocyte development (GO:0048599)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of neuron apoptotic process (GO:0043525)|pre-B cell allelic exclusion (GO:0002331)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reciprocal meiotic recombination (GO:0007131)|replicative senescence (GO:0090399)|response to hypoxia (GO:0001666)|response to ionizing radiation (GO:0010212)|signal transduction (GO:0007165)|signal transduction involved in mitotic G2 DNA damage checkpoint (GO:0072434)|somitogenesis (GO:0001756)|telomere maintenance (GO:0000723)	cytoplasmic vesicle (GO:0031410)|nucleoplasm (GO:0005654)|spindle (GO:0005819)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|histone serine kinase activity (GO:0035174)|protein complex binding (GO:0032403)|protein dimerization activity (GO:0046983)|protein N-terminus binding (GO:0047485)|protein serine/threonine kinase activity (GO:0004674)			NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	Caffeine(DB00201)	GACCAATACTGTGTCCTTTAG	0.393			"D, Mis, N, F, S"		T-PLL	"leukemia, lymphoma, medulloblastoma, glioma"		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)																												ENST00000278616.4			yes	Rec	yes	Ataxia-telangiectasia	11	11q22.3	472	"D, Mis, N, F, S"	ataxia telangiectasia mutated			"L, O"		"leukemia, lymphoma, medulloblastoma, glioma"	T-PLL		0				NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448						c.(2746-2748)Gtg>Atg	Genes defective in diseases associated with sensitivity to DNA damaging agents	ataxia telangiectasia mutated							218	204	209					11																	108139244		2201	4298	6499	SO:0001583	missense	472	Ataxia Telangiectasia	Familial Cancer Database	AT, Louis-Bar syndrome	cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding	g.chr11:108139244G>A	AB209133	CCDS31669.1	11q22-q23	2014-09-17	2014-06-17		ENSG00000149311	ENSG00000149311			795	protein-coding gene	gene with protein product	"TEL1, telomere maintenance 1, homolog (S. cerevisiae)"	607585	"ataxia telangiectasia mutated (includes complementation groups A, C and D)", "ataxia telangiectasia mutated"	ATA, ATDC, ATC, ATD			Standard	XM_005271561		Approved	TEL1, TELO1	uc001pkb.1	Q13315	OTTHUMG00000166480	ENST00000452508.2:c.2746G>A	11.37:g.108139244G>A	ENSP00000388058:p.Val916Met	TSP Lung(14;0.12)				ATM_ENST00000452508.2_Missense_Mutation_p.V916M	p.V916M	NM_000051.3	NP_000042.3	Q13315	ATM_HUMAN		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	18	3131	+		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)	916					B2RNX5|O15429|Q12758|Q16551|Q93007|Q9NP02|Q9UCX7	Missense_Mutation	SNP	ENST00000452508.2	37	c.2746G>A	CCDS31669.1	.	.	.	.	.	.	.	.	.	.	G	5.169	0.216749	0.09810	.	.	ENSG00000149311	ENST00000527805;ENST00000278616;ENST00000452508	T;T;T	0.73363	-0.74;-0.74;-0.74	5.96	3.09	0.35607	Armadillo-type fold (1);	0.316892	0.34853	N	0.003632	T	0.59662	0.2210	L	0.32530	0.975	0.21822	N	0.999528	B	0.09022	0.002	B	0.13407	0.009	T	0.46789	-0.9166	10	0.33141	T	0.24	.	7.3199	0.26521	0.1899:0.226:0.5841:0.0	.	916	Q13315	ATM_HUMAN	M	916	ENSP00000435747:V916M;ENSP00000278616:V916M;ENSP00000388058:V916M	ENSP00000278616:V916M	V	+	1	0	ATM	107644454	0.992000	0.36948	0.495000	0.27527	0.211000	0.24417	2.151000	0.42263	0.423000	0.26033	-0.175000	0.13238	GTG		0.393	ATM-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389938.1	NM_000051		4	117	0	0	0	1	0	4	117					A	108139244	G	A	108139244	3	1	435	1	0	0	0	0	1	0	0	0	1109	1377	48	3	2812	3	ATM	11	108139244	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	124523	108139244	26867272	5399	26324											
KDELC2	143888	broad.mit.edu	37	chr11	108350118	108350118	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tctagtgccatgtagaaatgTtcataatatggcgagtcctg	11	13	10	7	1	2	1	1	0	1	1	3	2	3	1	2	1	1	2	2	1	5	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:108350118T>C	ENST00000323468.5	-	6	1268	c.1203A>G	c.(1201-1203)gaA>gaG	p.E401E	KDELC2_ENST00000532730.1_Intron|KDELC2_ENST00000434945.2_Silent_p.E345E|KDELC2_ENST00000375648.1_Silent_p.E345E	NM_153705.4	NP_714916.3	Q7Z4H8	KDEL2_HUMAN	KDEL (Lys-Asp-Glu-Leu) containing 2	401						endoplasmic reticulum (GO:0005783)				breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	13		all_cancers(61;1.38e-11)|all_epithelial(67;3.16e-07)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;6.93e-06)|BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|all cancers(92;0.00016)|OV - Ovarian serous cystadenocarcinoma(223;0.132)|Colorectal(284;0.14)		TGTAGAAATGTTCATAATATG	0.403																																						ENST00000434945.2																			0				breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	13						c.(1033-1035)gaA>gaG		KDEL (Lys-Asp-Glu-Leu) containing 2							86	82	83					11																	108350118		1859	4099	5958	SO:0001819	synonymous_variant	143888					endoplasmic reticulum lumen		g.chr11:108350118T>C	AF533708	CCDS41711.1	11q32	2010-11-18			ENSG00000178202	ENSG00000178202			28496	protein-coding gene	gene with protein product						12975309	Standard	NM_153705		Approved	MGC33424	uc001pkj.2	Q7Z4H8	OTTHUMG00000166535	ENST00000323468.5:c.1203A>G	11.37:g.108350118T>C						KDELC2_ENST00000532730.1_Intron|KDELC2_ENST00000375648.1_Silent_p.E345E|KDELC2_ENST00000323468.5_Silent_p.E401E	p.E345E			Q7Z4H8	KDEL2_HUMAN		Epithelial(105;6.93e-06)|BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|all cancers(92;0.00016)|OV - Ovarian serous cystadenocarcinoma(223;0.132)|Colorectal(284;0.14)	5	1337	-		all_cancers(61;1.38e-11)|all_epithelial(67;3.16e-07)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)	401					Q6UWW2|Q6ZUM9|Q8N7L8|Q8NE24	Silent	SNP	ENST00000323468.5	37	c.1035A>G	CCDS41711.1																																																																																				0.403	KDELC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390273.1	NM_153705		3	59	0	0	0	1	0	3	59					C	108350118	T	C	108350118	2	2	435	1	0	0	0	0	0	0	0	1	8118	1722	60	4		4	KDELC2	11	108350118	Silent	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	210874	108350118	26656398	5400	26325											
EXPH5	23086	broad.mit.edu	37	chr11	108382110	108382110	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgttttctgaatcacctagaGgtgttttagctaaattatct	10	18	7	6	0	3	2	1	1	2	1	3	2	3	2	1	1	1	3	1	1	6	7			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:108382110G>T	ENST00000265843.4	-	6	4234	c.4124C>A	c.(4123-4125)cCt>cAt	p.P1375H	EXPH5_ENST00000524840.1_5'Flank|EXPH5_ENST00000443411.1_Missense_Mutation_p.P1187H|EXPH5_ENST00000428840.1_Missense_Mutation_p.P1299H|EXPH5_ENST00000525344.1_Missense_Mutation_p.P1368H	NM_015065.2	NP_055880	Q8NEV8	EXPH5_HUMAN	exophilin 5	1375					intracellular protein transport (GO:0006886)|keratinocyte development (GO:0003334)|multivesicular body sorting pathway (GO:0071985)|positive regulation of exocytosis (GO:0045921)|positive regulation of protein secretion (GO:0050714)	endosome (GO:0005768)	Rab GTPase binding (GO:0017137)			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		ATCACCTAGAGGTGTTTTAGC	0.378																																						ENST00000265843.4																			0				breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91						c.(4123-4125)cCt>cAt		exophilin 5							54	54	54					11																	108382110		2201	4298	6499	SO:0001583	missense	23086				intracellular protein transport		Rab GTPase binding	g.chr11:108382110G>T		CCDS8341.1	11q22.3	2008-02-05			ENSG00000110723	ENSG00000110723			30578	protein-coding gene	gene with protein product	"synaptotagmin-like homologue lacking C2 domains b"	612878				9734811, 11773082	Standard	NM_015065		Approved	SLAC2-B	uc001pkk.3	Q8NEV8	OTTHUMG00000166536	ENST00000265843.4:c.4124C>A	11.37:g.108382110G>T	ENSP00000265843:p.Pro1375His					EXPH5_ENST00000525344.1_Missense_Mutation_p.P1368H|EXPH5_ENST00000428840.1_Missense_Mutation_p.P1299H|EXPH5_ENST00000443411.1_Missense_Mutation_p.P1187H	p.P1375H	NM_015065.2	NP_055880.2	Q149M6	Q149M6_HUMAN		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)	6	4234	-		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)	1375					Q2KHM1|Q9Y4D6	Missense_Mutation	SNP	ENST00000265843.4	37	c.4124C>A	CCDS8341.1	.	.	.	.	.	.	.	.	.	.	G	17.64	3.440131	0.63067	.	.	ENSG00000110723	ENST00000265843;ENST00000428840;ENST00000443411;ENST00000525344;ENST00000526312;ENST00000533052	T;T;T;T;T;T	0.04970	4.21;4.14;3.99;4.21;4.05;3.52	5.81	-1.15	0.09709	.	1.458700	0.03687	N	0.246501	T	0.17577	0.0422	M	0.63428	1.95	0.09310	N	1	D	0.63046	0.992	P	0.56216	0.794	T	0.40079	-0.9582	10	0.62326	D	0.03	0.4506	10.6171	0.45456	0.4849:0.0:0.5151:0.0	.	1375	Q8NEV8	EXPH5_HUMAN	H	1375;1299;1187;1368;1299;1187	ENSP00000265843:P1375H;ENSP00000391966:P1299H;ENSP00000411390:P1187H;ENSP00000432546:P1368H;ENSP00000432683:P1299H;ENSP00000446434:P1187H	ENSP00000265843:P1375H	P	-	2	0	EXPH5	107887320	0.137000	0.22531	0.000000	0.03702	0.143000	0.21401	1.703000	0.37846	-0.082000	0.12640	0.591000	0.81541	CCT		0.378	EXPH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390279.1	NM_015065		23	34	1	0	1.28384e-07	1	1.34682e-07	23	34					T	108382110	G	T	108382110	3	4	435	1	0	0	0	0	1	0	0	0	5322	1000	35	5	1849	5	EXPH5	11	108382110	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	31992	108382110	26624406	5401	26326											
EXPH5	23086	broad.mit.edu	37	chr11	108384689	108384689	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccatgaatggctgatacactAtttgcttccatggaaatcat	12	13	7	9	0	1	2	1	2	0	0	2	3	2	3	2	2	2	2	2	2	4	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:108384689A>G	ENST00000265843.4	-	6	1655	c.1545T>C	c.(1543-1545)aaT>aaC	p.N515N	EXPH5_ENST00000524840.1_5'UTR|EXPH5_ENST00000443411.1_Silent_p.N327N|EXPH5_ENST00000428840.1_Silent_p.N439N|EXPH5_ENST00000525344.1_Silent_p.N508N	NM_015065.2	NP_055880	Q8NEV8	EXPH5_HUMAN	exophilin 5	515					intracellular protein transport (GO:0006886)|keratinocyte development (GO:0003334)|multivesicular body sorting pathway (GO:0071985)|positive regulation of exocytosis (GO:0045921)|positive regulation of protein secretion (GO:0050714)	endosome (GO:0005768)	Rab GTPase binding (GO:0017137)			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		CTGATACACTATTTGCTTCCA	0.413																																						ENST00000265843.4																			0				breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91						c.(1543-1545)aaT>aaC		exophilin 5							65	65	65					11																	108384689		2201	4298	6499	SO:0001819	synonymous_variant	23086				intracellular protein transport		Rab GTPase binding	g.chr11:108384689A>G		CCDS8341.1	11q22.3	2008-02-05			ENSG00000110723	ENSG00000110723			30578	protein-coding gene	gene with protein product	"synaptotagmin-like homologue lacking C2 domains b"	612878				9734811, 11773082	Standard	NM_015065		Approved	SLAC2-B	uc001pkk.3	Q8NEV8	OTTHUMG00000166536	ENST00000265843.4:c.1545T>C	11.37:g.108384689A>G						EXPH5_ENST00000525344.1_Silent_p.N508N|EXPH5_ENST00000524840.1_5'UTR|EXPH5_ENST00000428840.1_Silent_p.N439N|EXPH5_ENST00000443411.1_Silent_p.N327N	p.N515N	NM_015065.2	NP_055880.2	Q149M6	Q149M6_HUMAN		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)	6	1655	-		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)	515					Q2KHM1|Q9Y4D6	Silent	SNP	ENST00000265843.4	37	c.1545T>C	CCDS8341.1																																																																																				0.413	EXPH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390279.1	NM_015065		34	49	0	0	0	1	0	34	49					G	108384689	A	G	108384689	2	3	435	1	0	0	0	0	0	0	0	1	5322	446	16	4		4	EXPH5	11	108384689	Silent	SNP	A	TCGA-XK-AAIW-01A-11D-A41K-08	2579	108384689	26621827	5402	26327											
ZC3H12C	85463	broad.mit.edu	37	chr11	110035942	110035942	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcacctggctctgcacctgcCgcactccgctgtgggcgccc	3	7	12	19	3	1	0	0	0	1	0	2	0	2	0	5	2	2	5	5	2	0	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:110035942C>T	ENST00000278590.3	+	6	2183	c.2132C>T	c.(2131-2133)cCg>cTg	p.P711L	ZC3H12C_ENST00000453089.2_Missense_Mutation_p.P680L|ZC3H12C_ENST00000528673.1_Missense_Mutation_p.P712L	NM_033390.1	NP_203748.1	Q9C0D7	ZC12C_HUMAN	zinc finger CCCH-type containing 12C	711							endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		all_cancers(61;3.24e-13)|all_epithelial(67;1.27e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;1.72e-06)|BRCA - Breast invasive adenocarcinoma(274;1.17e-05)|all cancers(92;9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0279)		CTGCACCTGCCGCACTCCGCT	0.587																																						ENST00000453089.2																			0				endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						c.(2038-2040)cCg>cTg		zinc finger CCCH-type containing 12C							136	158	150					11																	110035942		2117	4231	6348	SO:0001583	missense	85463						endonuclease activity|nucleic acid binding|zinc ion binding	g.chr11:110035942C>T		CCDS44727.1	11q22.3	2012-07-05			ENSG00000149289	ENSG00000149289		"Zinc fingers, CCCH-type domain containing"	29362	protein-coding gene	gene with protein product	"MCP induced protein 3"	615001				11214970, 18178554	Standard	NM_033390		Approved	KIAA1726, MCPIP3	uc009yxw.3	Q9C0D7	OTTHUMG00000166572	ENST00000278590.3:c.2132C>T	11.37:g.110035942C>T	ENSP00000278590:p.Pro711Leu					ZC3H12C_ENST00000278590.3_Missense_Mutation_p.P711L|ZC3H12C_ENST00000528673.1_Missense_Mutation_p.P712L	p.P680L			Q9C0D7	ZC12C_HUMAN		Epithelial(105;1.72e-06)|BRCA - Breast invasive adenocarcinoma(274;1.17e-05)|all cancers(92;9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0279)	5	2920	+		all_cancers(61;3.24e-13)|all_epithelial(67;1.27e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)	711					B4DI65|B4DR47	Missense_Mutation	SNP	ENST00000278590.3	37	c.2039C>T	CCDS44727.1	.	.	.	.	.	.	.	.	.	.	A	25.3	4.621524	0.87460	.	.	ENSG00000149289	ENST00000278590;ENST00000528673;ENST00000453089	T;T;T	0.29917	1.55;1.55;1.55	5.94	4.8	0.61643	.	0.114074	0.64402	D	0.000009	T	0.22742	0.0549	L	0.29908	0.895	0.31796	N	0.629025	B;B;B	0.21688	0.059;0.059;0.059	B;B;B	0.14023	0.01;0.01;0.01	T	0.11717	-1.0576	10	0.24483	T	0.36	-9.1517	13.1354	0.59405	0.7474:0.2526:0.0:0.0	.	712;711;711	B4DR47;B4DI65;Q9C0D7	.;.;ZC12C_HUMAN	L	711;712;680	ENSP00000278590:P711L;ENSP00000431821:P712L;ENSP00000413094:P680L	ENSP00000278590:P711L	P	+	2	0	ZC3H12C	109541152	1.000000	0.71417	1.000000	0.80357	0.846000	0.48090	4.217000	0.58547	0.484000	0.27630	-0.363000	0.07495	CCG		0.587	ZC3H12C-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000390491.1	NM_033390		44	81	0	0	0	1	0	44	81					T	110035942	C	T	110035942	3	4	435	1	0	0	0	0	1	0	0	0	17560	652	23	2	2154	2	ZC3H12C	11	110035942	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	1651253	110035942	24970574	5403	26328											
RDX	5962	broad.mit.edu	37	chr11	110124753	110124753	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agtatcaggcttccttcttcGcatgtatagttcatggtttc	7	17	8	9	1	3	0	2	0	1	0	6	0	4	0	1	2	0	6	1	2	3	8			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:110124753G>A	ENST00000343115.4	-	9	1196	c.877C>T	c.(877-879)Cga>Tga	p.R293*	RDX_ENST00000405097.1_Nonsense_Mutation_p.R293*|RDX_ENST00000530301.1_Intron|RDX_ENST00000544551.1_Nonsense_Mutation_p.R157*|RDX_ENST00000528498.1_Nonsense_Mutation_p.R293*|RDX_ENST00000528900.1_Intron	NM_001260494.1|NM_002906.3	NP_001247423.1|NP_002897.1	P35241	RADI_HUMAN	radixin	293	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				actin filament capping (GO:0051693)|apical protein localization (GO:0045176)|establishment of endothelial barrier (GO:0061028)|microvillus assembly (GO:0030033)|positive regulation of gene expression (GO:0010628)	apical part of cell (GO:0045177)|cell tip (GO:0051286)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|stereocilium (GO:0032420)|T-tubule (GO:0030315)	poly(A) RNA binding (GO:0044822)			endometrium(3)|kidney(2)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1)	18		all_cancers(61;7.18e-13)|all_epithelial(67;2.61e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;1.13e-06)|BRCA - Breast invasive adenocarcinoma(274;9.75e-06)|all cancers(92;5.9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0248)		TTCCTTCTTCGCATGTATAGT	0.408																																					Esophageal Squamous(55;25 1062 11040 28755 44273)	ENST00000343115.4																			0				endometrium(3)|kidney(2)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1)	18						c.(877-879)Cga>Tga		radixin							117	102	107					11																	110124753		2201	4296	6497	SO:0001587	stop_gained	5962				actin filament capping	cleavage furrow|cytoskeleton|extrinsic to membrane|Golgi apparatus|nucleolus|plasma membrane	actin binding	g.chr11:110124753G>A	BC020751	CCDS8343.1, CCDS58171.1, CCDS58172.1, CCDS58173.1, CCDS58174.1	11q23	2008-03-17				ENSG00000137710			9944	protein-coding gene	gene with protein product		179410	"deafness, autosomal recessive 24"	DFNB24		8486357, 17226784	Standard	NM_001260492		Approved		uc031qdy.1	P35241		ENST00000343115.4:c.877C>T	11.37:g.110124753G>A	ENSP00000342830:p.Arg293*					RDX_ENST00000530301.1_Intron|RDX_ENST00000528900.1_Intron|RDX_ENST00000528498.1_Nonsense_Mutation_p.R293*|RDX_ENST00000405097.1_Nonsense_Mutation_p.R293*|RDX_ENST00000544551.1_Nonsense_Mutation_p.R157*	p.R293*	NM_001260494.1|NM_002906.3	NP_001247423.1|NP_002897.1	P35241	RADI_HUMAN		Epithelial(105;1.13e-06)|BRCA - Breast invasive adenocarcinoma(274;9.75e-06)|all cancers(92;5.9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0248)	9	1196	-		all_cancers(61;7.18e-13)|all_epithelial(67;2.61e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)	293			FERM.		A7YIJ8|A7YIK0|A7YIK3|B7Z9U6|F5H1A7|Q86Y61	Nonsense_Mutation	SNP	ENST00000343115.4	37	c.877C>T	CCDS8343.1	.	.	.	.	.	.	.	.	.	.	G	39	7.339951	0.98221	.	.	ENSG00000137710	ENST00000528498;ENST00000429481;ENST00000405097;ENST00000343115;ENST00000544551	.	.	.	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.891	0.58071	0.0:0.0:0.7299:0.2701	.	.	.	.	X	293;293;293;293;157	.	ENSP00000342830:R293X	R	-	1	2	RDX	109629963	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	1.650000	0.37292	2.705000	0.92388	0.655000	0.94253	CGA		0.408	RDX-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000390535.2	NM_002906		4	45	0	0	0	1	0	4	45					A	110124753	G	A	110124753	4	1	435	1	0	0	0	0	0	1	0	0	13198	1095	38	1	898	1	RDX	11	110124753	Nonsense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	88811	110124753	24881763	5404	26329											
C11orf53	341032	broad.mit.edu	37	chr11	111156466	111156466	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgaccttgccacccagcaCgagttgcctctcccagcttg	6	9	9	17	1	1	1	0	1	1	0	2	2	1	1	5	0	4	4	5	0	0	3	rs376710383		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:111156466C>T	ENST00000280325.4	+	4	545	c.398C>T	c.(397-399)aCg>aTg	p.T133M		NM_198498.1	NP_940900.1	Q8IXP5	CK053_HUMAN	chromosome 11 open reading frame 53	133										endometrium(1)|large_intestine(2)|lung(3)|skin(2)	8		all_cancers(61;2.05e-09)|Melanoma(852;4.04e-05)|all_epithelial(67;6.15e-05)|all_hematologic(158;0.000826)|Acute lymphoblastic leukemia(157;0.000966)|all_neural(223;0.0332)|Medulloblastoma(222;0.0425)|Breast(348;0.147)		Epithelial(105;1.7e-06)|BRCA - Breast invasive adenocarcinoma(274;3.16e-06)|all cancers(92;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0507)		CCACCCAGCACGAGTTGCCTC	0.632													C|||	1	0.000199681	0	0	5008	,	,		20547	0		0.001	False		,,,				2504	0					ENST00000280325.4																			0				endometrium(1)|large_intestine(2)|lung(3)|skin(2)	8						c.(397-399)aCg>aTg		chromosome 11 open reading frame 53		C	MET/THR	1,4401	2.1+/-5.4	0,1,2200	76	68	71		398	4.8	0.2	11		71	0,8594		0,0,4297	no	missense	C11orf53	NM_198498.1	81	0,1,6497	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	133/237	111156466	1,12995	2201	4297	6498	SO:0001583	missense	341032							g.chr11:111156466C>T	BC039669	CCDS31674.1	11q23.1	2012-05-31			ENSG00000150750	ENSG00000150750			30527	protein-coding gene	gene with protein product						12477932	Standard	NM_198498		Approved	MGC50104	uc001plc.3	Q8IXP5	OTTHUMG00000166656	ENST00000280325.4:c.398C>T	11.37:g.111156466C>T	ENSP00000280325:p.Thr133Met						p.T133M	NM_198498.1	NP_940900.1	Q8IXP5	CK053_HUMAN		Epithelial(105;1.7e-06)|BRCA - Breast invasive adenocarcinoma(274;3.16e-06)|all cancers(92;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0507)	4	545	+		all_cancers(61;2.05e-09)|Melanoma(852;4.04e-05)|all_epithelial(67;6.15e-05)|all_hematologic(158;0.000826)|Acute lymphoblastic leukemia(157;0.000966)|all_neural(223;0.0332)|Medulloblastoma(222;0.0425)|Breast(348;0.147)	133						Missense_Mutation	SNP	ENST00000280325.4	37	c.398C>T	CCDS31674.1	.	.	.	.	.	.	.	.	.	.	C	17.33	3.362930	0.61403	2.27E-4	0.0	ENSG00000150750	ENST00000280325	.	.	.	4.8	4.8	0.61643	.	0.316608	0.32068	N	0.006634	T	0.52885	0.1762	L	0.45581	1.43	0.09310	N	0.999991	D	0.76494	0.999	P	0.59288	0.855	T	0.48186	-0.9057	9	0.51188	T	0.08	-4.2683	15.3596	0.74460	0.0:1.0:0.0:0.0	.	133	Q8IXP5	CK053_HUMAN	M	133	.	ENSP00000280325:T133M	T	+	2	0	C11orf53	110661676	0.027000	0.19231	0.166000	0.22797	0.941000	0.58515	3.160000	0.50739	2.215000	0.71742	0.561000	0.74099	ACG		0.632	C11orf53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390989.1	NM_198498		13	32	0	0	0	1	0	13	32					T	111156466	C	T	111156466	3	4	435	1	0	0	0	0	1	0	0	0	1648	536	19	1	408	1	C11orf53	11	111156466	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	1031713	111156466	23850050	5405	26330											
POU2AF1	5450	broad.mit.edu	37	chr11	111225283	111225283	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcgggggccccactgcgggCgtggcggagcttcttgtctg	3	8	18	12	4	2	0	0	0	2	0	2	1	2	1	2	5	3	1	2	5	0	2	rs188428317		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:111225283C>T	ENST00000393067.3	-	5	988	c.474G>A	c.(472-474)acG>acA	p.T158T		NM_006235.2	NP_006226.2	Q16633	OBF1_HUMAN	POU class 2 associating factor 1	158					humoral immune response (GO:0006959)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)			breast(1)|kidney(2)|lung(2)	5		all_cancers(61;1.36e-12)|all_epithelial(67;1.87e-07)|Melanoma(852;1.46e-05)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|all_neural(223;0.0146)|Medulloblastoma(222;0.0245)|Breast(348;0.0389)		Epithelial(105;1.01e-06)|BRCA - Breast invasive adenocarcinoma(274;3.12e-06)|all cancers(92;1.8e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0364)		CCACTGCGGGCGTGGCGGAGC	0.642			T	BCL6	NHL								C|||	1	0.000199681	0	0.0014	5008	,	,		17201	0		0	False		,,,				2504	0					ENST00000393067.3				Dom	yes		11	11q23.1	5450	T	"POU domain, class 2, associating factor 1 (OBF1)"			L	BCL6		NHL		0				breast(1)|kidney(2)|lung(2)	5						c.(472-474)acG>acA		POU class 2 associating factor 1							17	24	22					11																	111225283		2197	4291	6488	SO:0001819	synonymous_variant	5450				humoral immune response|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	protein binding|transcription coactivator activity	g.chr11:111225283C>T		CCDS31675.1	11q23.1	2011-06-01	2007-07-13			ENSG00000110777			9211	protein-coding gene	gene with protein product		601206	"POU domain class 2, associating factor 1"			8617501	Standard	NM_006235		Approved	OBF1	uc001plg.4	Q16633		ENST00000393067.3:c.474G>A	11.37:g.111225283C>T							p.T158T	NM_006235.2	NP_006226.2	Q16633	OBF1_HUMAN		Epithelial(105;1.01e-06)|BRCA - Breast invasive adenocarcinoma(274;3.12e-06)|all cancers(92;1.8e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0364)	5	988	-		all_cancers(61;1.36e-12)|all_epithelial(67;1.87e-07)|Melanoma(852;1.46e-05)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|all_neural(223;0.0146)|Medulloblastoma(222;0.0245)|Breast(348;0.0389)	158					B2R8Z9|Q14983	Silent	SNP	ENST00000393067.3	37	c.474G>A	CCDS31675.1																																																																																				0.642	POU2AF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391002.1	NM_006235		3	0	0	0	0	1	0	3	0					T	111225283	C	T	111225283	2	4	435	1	0	0	0	0	0	0	0	1	12270	755	27	1		1	POU2AF1	11	111225283	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	68817	111225283	23781233	5406	26331											
SIK2	23235	broad.mit.edu	37	chr11	111571640	111571640	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tggaaatttctttaaaagtgGtgaactgctggcaacatggt	12	13	11	5	0	1	1	0	1	1	0	1	2	1	2	0	4	3	2	0	4	5	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:111571640G>A	ENST00000304987.3	+	5	682	c.509G>A	c.(508-510)gGt>gAt	p.G170D		NM_015191.1	NP_056006.1	Q9H0K1	SIK2_HUMAN	salt-inducible kinase 2	170	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				insulin receptor signaling pathway (GO:0008286)|intracellular signal transduction (GO:0035556)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of insulin receptor signaling pathway (GO:0046626)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	30						TTTAAAAGTGGTGAACTGCTG	0.418																																						ENST00000304987.3																			0				breast(1)|central_nervous_system(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	30						c.(508-510)gGt>gAt		salt-inducible kinase 2							74	76	76					11																	111571640		2201	4297	6498	SO:0001583	missense	23235				intracellular protein kinase cascade|regulation of insulin receptor signaling pathway	Golgi apparatus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity	g.chr11:111571640G>A	AB018324	CCDS8347.1	11q23.1	2008-12-23	2008-12-23	2008-12-23	ENSG00000170145	ENSG00000170145			21680	protein-coding gene	gene with protein product		608973	"SNF1-like kinase 2"	SNF1LK2		15067358	Standard	NM_015191		Approved	KIAA0781, QIK, DKFZp434K1115, LOH11CR1I	uc001plt.3	Q9H0K1	OTTHUMG00000150644	ENST00000304987.3:c.509G>A	11.37:g.111571640G>A	ENSP00000305976:p.Gly170Asp						p.G170D	NM_015191.1	NP_056006.1	Q9H0K1	SIK2_HUMAN			5	682	+			170			Protein kinase.		A8K5B8|B0YJ94|O94878|Q17RV0|Q6AZE2|Q76N03|Q8NCV7|Q96CZ8	Missense_Mutation	SNP	ENST00000304987.3	37	c.509G>A	CCDS8347.1	.	.	.	.	.	.	.	.	.	.	G	24.3	4.516381	0.85495	.	.	ENSG00000170145	ENST00000304987	T	0.64438	-0.1	5.02	5.02	0.67125	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.60971	0.2310	L	0.37750	1.13	0.80722	D	1	P	0.41131	0.739	P	0.44561	0.453	T	0.64753	-0.6333	10	0.62326	D	0.03	.	18.5673	0.91121	0.0:0.0:1.0:0.0	.	170	Q9H0K1	SIK2_HUMAN	D	170	ENSP00000305976:G170D	ENSP00000305976:G170D	G	+	2	0	SIK2	111076850	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.614000	0.98353	2.786000	0.95864	0.603000	0.83216	GGT		0.418	SIK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319352.3	NM_015191		23	38	0	0	0	1	0	23	38					A	111571640	G	A	111571640	3	1	435	1	0	0	0	0	1	0	0	0	14318	1261	44	3	527	3	SIK2	11	111571640	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	346357	111571640	23434876	5407	26332											
SIK2	23235	broad.mit.edu	37	chr11	111592580	111592580	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtttctcagcagcaggaaagCgtctccactctccctgccag	8	9	9	15	1	3	0	1	0	3	0	6	1	3	1	3	1	4	3	3	1	1	1	rs374853322		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:111592580C>T	ENST00000304987.3	+	13	2144	c.1971C>T	c.(1969-1971)agC>agT	p.S657S		NM_015191.1	NP_056006.1	Q9H0K1	SIK2_HUMAN	salt-inducible kinase 2	657					insulin receptor signaling pathway (GO:0008286)|intracellular signal transduction (GO:0035556)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of insulin receptor signaling pathway (GO:0046626)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	30						AGCAGGAAAGCGTCTCCACTC	0.562													C|||	1	0.000199681	0	0	5008	,	,		19255	0.001		0	False		,,,				2504	0					ENST00000304987.3																			0				breast(1)|central_nervous_system(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	30						c.(1969-1971)agC>agT		salt-inducible kinase 2							75	71	72					11																	111592580		2201	4297	6498	SO:0001819	synonymous_variant	23235				intracellular protein kinase cascade|regulation of insulin receptor signaling pathway	Golgi apparatus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity	g.chr11:111592580C>T	AB018324	CCDS8347.1	11q23.1	2008-12-23	2008-12-23	2008-12-23	ENSG00000170145	ENSG00000170145			21680	protein-coding gene	gene with protein product		608973	"SNF1-like kinase 2"	SNF1LK2		15067358	Standard	NM_015191		Approved	KIAA0781, QIK, DKFZp434K1115, LOH11CR1I	uc001plt.3	Q9H0K1	OTTHUMG00000150644	ENST00000304987.3:c.1971C>T	11.37:g.111592580C>T							p.S657S	NM_015191.1	NP_056006.1	Q9H0K1	SIK2_HUMAN			13	2144	+			657					A8K5B8|B0YJ94|O94878|Q17RV0|Q6AZE2|Q76N03|Q8NCV7|Q96CZ8	Silent	SNP	ENST00000304987.3	37	c.1971C>T	CCDS8347.1																																																																																				0.562	SIK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319352.3	NM_015191		3	18	0	0	0	1	0	3	18					T	111592580	C	T	111592580	2	4	435	1	0	0	0	0	0	0	0	1	14318	767	27	1		1	SIK2	11	111592580	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	20940	111592580	23413936	5408	26333											
PPP2R1B	5519	broad.mit.edu	37	chr11	111625257	111625257	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gaatttgattcataattatgGtctctctatcttcaatgggc	10	17	7	7	0	5	1	2	1	3	0	6	2	5	1	0	2	0	0	0	2	5	6			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:111625257G>A	ENST00000527614.1	-	8	1060	c.995C>T	c.(994-996)aCc>aTc	p.T332I	PPP2R1B_ENST00000341980.6_Missense_Mutation_p.T332I|PPP2R1B_ENST00000426998.2_Missense_Mutation_p.T268I|PPP2R1B_ENST00000311129.5_Missense_Mutation_p.T332I|PPP2R1B_ENST00000427203.2_Missense_Mutation_p.T171I|PPP2R1B_ENST00000393055.2_Missense_Mutation_p.T205I	NM_001177562.1|NM_002716.4	NP_001171033.1|NP_002707.3	P30154	2AAB_HUMAN	protein phosphatase 2, regulatory subunit A, beta	332					apoptotic process involved in morphogenesis (GO:0060561)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)	extracellular vesicular exosome (GO:0070062)|membrane raft (GO:0045121)				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|liver(1)|lung(10)|prostate(1)|urinary_tract(2)	22		all_cancers(61;2.34e-15)|all_epithelial(67;1.72e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|Epithelial(105;2.36e-06)|all cancers(92;3.78e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0761)		CATAATTATGGTCTCTCTATC	0.313																																						ENST00000527614.1																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|liver(1)|lung(10)|prostate(1)|urinary_tract(2)	22						c.(994-996)aCc>aTc		protein phosphatase 2, regulatory subunit A, beta							87	90	89					11																	111625257		2200	4294	6494	SO:0001583	missense	5519						protein binding	g.chr11:111625257G>A	AF087438	CCDS8348.1, CCDS8349.1, CCDS53706.1, CCDS53707.1, CCDS53708.1	11q23.1	2010-06-18	2010-04-14		ENSG00000137713	ENSG00000137713	3.1.3.16	"Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"	9303	protein-coding gene	gene with protein product	"PP2A-A-beta", "protein phosphatase 2A, regulatory subunit A, beta isoform"	603113	"protein phosphatase 2 (formerly 2A), regulatory subunit A (PR 65), beta isoform", "protein phosphatase 2 (formerly 2A), regulatory subunit A, beta isoform"			2159327, 9795170	Standard	NM_181699		Approved	PR65B, PP2A-Abeta	uc001plw.1	P30154	OTTHUMG00000166741	ENST00000527614.1:c.995C>T	11.37:g.111625257G>A	ENSP00000437193:p.Thr332Ile					PPP2R1B_ENST00000427203.2_Missense_Mutation_p.T171I|PPP2R1B_ENST00000311129.5_Missense_Mutation_p.T332I|PPP2R1B_ENST00000426998.2_Missense_Mutation_p.T268I|PPP2R1B_ENST00000393055.2_Missense_Mutation_p.T205I|PPP2R1B_ENST00000341980.6_Missense_Mutation_p.T332I	p.T332I	NM_001177562.1|NM_002716.4	NP_001171033.1|NP_002707.3	P30154	2AAB_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|Epithelial(105;2.36e-06)|all cancers(92;3.78e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0761)	8	1060	-		all_cancers(61;2.34e-15)|all_epithelial(67;1.72e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)	332					A8MY67|B0YJ69|B4DGQ6|B4DK91|B4DWW5|F8W8G1|O75620|Q8NHV8	Missense_Mutation	SNP	ENST00000527614.1	37	c.995C>T	CCDS8349.1	.	.	.	.	.	.	.	.	.	.	G	15.36	2.810906	0.50421	.	.	ENSG00000137713	ENST00000311129;ENST00000412902;ENST00000426998;ENST00000527614;ENST00000427203;ENST00000341980;ENST00000393055	T;T;T;T;T;T	0.33216	1.42;1.42;1.42;1.42;1.42;1.42	5.97	5.97	0.96955	Armadillo-like helical (1);Armadillo-type fold (1);	0.273074	0.39146	N	0.001447	T	0.41926	0.1180	L	0.55481	1.735	0.46241	D	0.998944	P;B;B;P;B;P	0.35684	0.515;0.003;0.022;0.515;0.004;0.496	B;B;B;B;B;B	0.44108	0.175;0.062;0.058;0.441;0.017;0.187	T	0.19976	-1.0289	10	0.66056	D	0.02	-4.5657	17.9326	0.89002	0.0:0.0:1.0:0.0	.	205;332;171;268;332;332	A8MY67;F8W8G1;B7Z1G3;B4DWW5;P30154;P30154-2	.;.;.;.;2AAB_HUMAN;.	I	332;205;268;332;171;332;205	ENSP00000311344:T332I;ENSP00000410671:T268I;ENSP00000437193:T332I;ENSP00000415759:T171I;ENSP00000343317:T332I;ENSP00000376775:T205I	ENSP00000311344:T332I	T	-	2	0	PPP2R1B	111130467	1.000000	0.71417	0.999000	0.59377	0.968000	0.65278	2.709000	0.47160	2.836000	0.97738	0.655000	0.94253	ACC		0.313	PPP2R1B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000391298.1	NM_002716		11	24	0	0	0	1	0	11	24					A	111625257	G	A	111625257	3	1	435	1	0	0	0	0	1	0	0	0	12383	1261	44	3	1065	3	PPP2R1B	11	111625257	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	32677	111625257	23381259	5409	26334											
ALG9	79796	broad.mit.edu	37	chr11	111657126	111657126	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gccacaggtgtgttgctaacCtccacttttcttcctgattt	6	16	7	12	0	1	1	0	1	1	0	3	1	3	1	4	1	2	2	4	1	1	6	rs590073		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:111657126C>A	ENST00000531154.1	-	15	1811	c.1339G>T	c.(1339-1341)Ggt>Tgt	p.G447C	ALG9_ENST00000398006.2_Missense_Mutation_p.G440C|ALG9_ENST00000524880.1_3'UTR|ALG9_ENST00000527228.1_5'UTR	NM_024740.2	NP_079016.2	Q9H6U8	ALG9_HUMAN	ALG9, alpha-1,2-mannosyltransferase	611					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	dol-P-Man:Man(6)GlcNAc(2)-PP-Dol alpha-1,2-mannosyltransferase activity (GO:0052926)|dol-P-Man:Man(8)GlcNAc(2)-PP-Dol alpha-1,2-mannosyltransferase activity (GO:0052918)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16		all_cancers(61;2.34e-15)|all_epithelial(67;1.72e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		Epithelial(105;6.81e-07)|BRCA - Breast invasive adenocarcinoma(274;1.15e-06)|all cancers(92;1.3e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0587)		TGTTGCTAACCTCCACTTTTC	0.453																																						ENST00000398006.2																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16						c.(1318-1320)Ggt>Tgt		ALG9, alpha-1,2-mannosyltransferase							274	270	272					11																	111657126		1993	4164	6157	SO:0001583	missense	79796				dolichol-linked oligosaccharide biosynthetic process|GPI anchor biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|intrinsic to endoplasmic reticulum membrane	alpha-1,2-mannosyltransferase activity	g.chr11:111657126C>A		CCDS41714.1, CCDS53709.1, CCDS73379.1, CCDS73380.1	11q23	2013-02-26	2013-02-26	2004-08-26	ENSG00000086848	ENSG00000086848	2.4.1.259, 2.4.1.261	"Dolichyl D-mannosyl phosphate dependent mannosyltransferases"	15672	protein-coding gene	gene with protein product	"dolichyl-P-Man:Man(6)GlcNAc(2)-PP-dolichol alpha-1,2-mannosyltransferase", "dolichyl-P-Man:Man(8)GlcNAc(2)-PP-dolichol alpha-1,2-mannosyltransferase", "dol-P-Man dependent alpha-1,2-mannosyltransferase"	606941	"disrupted in bipolar affective disorder 1", "asparagine-linked glycosylation 9 homolog (yeast, alpha 1,2 mannosyltransferase)", "asparagine-linked glycosylation 9, alpha- 1,2-mannosyltransferase homolog (S. cerevisiae, alpha- 1,2-mannosyltransferase)", "asparagine-linked glycosylation 9, alpha-1,2-mannosyltransferase homolog (S. cerevisiae)"	DIBD1		12030331, 15148656	Standard	NM_024740		Approved		uc021qql.1	Q9H6U8	OTTHUMG00000166819	ENST00000531154.1:c.1339G>T	11.37:g.111657126C>A	ENSP00000435517:p.Gly447Cys					ALG9_ENST00000527228.1_5'UTR|ALG9_ENST00000531154.1_Missense_Mutation_p.G447C|ALG9_ENST00000524880.1_3'UTR	p.G440C	NM_001077690.1|NM_001077691.1|NM_001077692.1	NP_001071158.1|NP_001071159.1|NP_001071160.1	Q9H6U8	ALG9_HUMAN		Epithelial(105;6.81e-07)|BRCA - Breast invasive adenocarcinoma(274;1.15e-06)|all cancers(92;1.3e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0587)	15	2226	-		all_cancers(61;2.34e-15)|all_epithelial(67;1.72e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)	611					Q6ZMD5|Q7Z4R4|Q96GS7|Q96PB9|Q9H068	Missense_Mutation	SNP	ENST00000531154.1	37	c.1318G>T	CCDS41714.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.8|20.8	4.054071|4.054071	0.75960|0.75960	.|.	.|.	ENSG00000086848|ENSG00000086848	ENST00000532425|ENST00000531154;ENST00000398006;ENST00000428306	.|T;T	.|0.15603	.|2.41;2.41	5.87|5.87	4.96|4.96	0.65561|0.65561	.|.	.|0.225948	.|0.45126	.|D	.|0.000393	T|T	0.28632|0.28632	0.0709|0.0709	L|L	0.36672|0.36672	1.1|1.1	0.42570|0.42570	D|D	0.993178|0.993178	.|D;D	.|0.69078	.|0.997;0.995	.|P;P	.|0.62560	.|0.904;0.804	T|T	0.03157|0.03157	-1.1066|-1.1066	5|10	.|0.87932	.|D	.|0	.|.	12.8534|12.8534	0.57871|0.57871	0.0:0.9231:0.0:0.0769|0.0:0.9231:0.0:0.0769	.|.	.|618;611	.|Q9H6U8-3;Q9H6U8	.|.;ALG9_HUMAN	D|C	195|447;440;844	.|ENSP00000435517:G447C;ENSP00000381090:G440C	.|ENSP00000381090:G440C	E|G	-|-	3|1	2|0	ALG9|ALG9	111162336|111162336	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	3.731000|3.731000	0.55013|0.55013	1.627000|1.627000	0.50400|0.50400	0.655000|0.655000	0.94253|0.94253	GAG|GGT		0.453	ALG9-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000391485.1	NM_024740		41	90	1	0	3.54561e-26	1	3.96178e-26	41	90					A	111657126	C	A	111657126	3	1	435	1	0	0	0	0	1	0	0	0	524	681	24	5	8	5	ALG9	11	111657126	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	31869	111657126	23349390	5410	26335											
FDXACB1	91893	broad.mit.edu	37	chr11	111747585	111747585	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttacagctgaatggatacacGtcgcttaaaatgagcccccc	12	9	8	12	2	0	2	0	2	0	0	1	3	0	3	3	1	4	2	3	1	5	3	rs200419859		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:111747585G>A	ENST00000260257.4	-	3	527	c.480C>T	c.(478-480)gaC>gaT	p.D160D	ALG9_ENST00000527377.1_5'Flank|FDXACB1_ENST00000542429.1_Silent_p.D11D|C11orf1_ENST00000260276.3_5'Flank|C11orf1_ENST00000528125.1_5'Flank|ALG9_ENST00000524880.1_Silent_p.D160D|C11orf1_ENST00000530214.1_5'Flank	NM_138378.2	NP_612387.1	Q9BRP7	FDXA1_HUMAN	ferredoxin-fold anticodon binding domain containing 1	160					phenylalanyl-tRNA aminoacylation (GO:0006432)|tRNA processing (GO:0008033)		ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|phenylalanine-tRNA ligase activity (GO:0004826)|tRNA binding (GO:0000049)			endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|upper_aerodigestive_tract(3)	19						ATGGATACACGTCGCTTAAAA	0.512													G|||	1	0.000199681	0	0	5008	,	,		18539	0.001		0	False		,,,				2504	0					ENST00000524880.1																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16						c.(478-480)gaC>gaT		ALG9, alpha-1,2-mannosyltransferase							47	46	47					11																	111747585		1903	4118	6021	SO:0001819	synonymous_variant	79796				dolichol-linked oligosaccharide biosynthetic process|GPI anchor biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|intrinsic to endoplasmic reticulum membrane	alpha-1,2-mannosyltransferase activity	g.chr11:111747585G>A		CCDS44729.1	11q23.1	2011-04-15			ENSG00000255561	ENSG00000255561			25110	protein-coding gene	gene with protein product	"hypothetical protein BC006136"						Standard	NR_038364		Approved	LOC91893, hCG_2033039	uc001pmc.4	Q9BRP7	OTTHUMG00000166795	ENST00000260257.4:c.480C>T	11.37:g.111747585G>A						FDXACB1_ENST00000542429.1_Silent_p.D11D|FDXACB1_ENST00000260257.4_Silent_p.D160D	p.D160D			Q9H6U8	ALG9_HUMAN		Epithelial(105;6.81e-07)|BRCA - Breast invasive adenocarcinoma(274;1.15e-06)|all cancers(92;1.3e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0587)	3	772	-		all_cancers(61;2.34e-15)|all_epithelial(67;1.72e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)	0					A0PJW7|B4DUU2	Silent	SNP	ENST00000260257.4	37	c.480C>T	CCDS44729.1																																																																																				0.512	FDXACB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391497.1	NM_138378		8	8	0	0	0	1	0	8	8					A	111747585	G	A	111747585	2	1	435	1	0	0	0	0	0	0	0	1	5806	1136	40	1		1	FDXACB1	11	111747585	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	90459	111747585	23258931	5411	26336											
DLAT	1737	broad.mit.edu	37	chr11	111904215	111904215	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgagaagctaagtgaaggaGacttactggcagagatagaa	16	7	14	4	0	0	5	0	2	0	4	0	8	0	5	0	2	2	2	0	2	6	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:111904215G>T	ENST00000280346.6	+	5	1407	c.748G>T	c.(748-750)Gac>Tac	p.D250Y	DLAT_ENST00000537636.1_Missense_Mutation_p.D21Y|DLAT_ENST00000393051.1_Intron|RNU6-893P_ENST00000458841.1_RNA	NM_001931.4	NP_001922.2	P10515	ODP2_HUMAN	dihydrolipoamide S-acetyltransferase	250	Lipoyl-binding 2. {ECO:0000255|PROSITE- ProRule:PRU01066}.				cellular metabolic process (GO:0044237)|glucose metabolic process (GO:0006006)|pyruvate metabolic process (GO:0006090)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	mitochondrial matrix (GO:0005759)|mitochondrial pyruvate dehydrogenase complex (GO:0005967)|mitochondrion (GO:0005739)	dihydrolipoyllysine-residue acetyltransferase activity (GO:0004742)			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(1)|skin(1)	22		all_cancers(61;4.53e-11)|all_epithelial(67;2.76e-06)|Melanoma(852;9.42e-06)|all_hematologic(158;0.000885)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0512)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)		Epithelial(105;4.87e-07)|BRCA - Breast invasive adenocarcinoma(274;6.83e-07)|all cancers(92;9.63e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0557)		AAGTGAAGGAGACTTACTGGC	0.458																																						ENST00000280346.6																			0				breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(1)|skin(1)	22						c.(748-750)Gac>Tac		dihydrolipoamide S-acetyltransferase	NADH(DB00157)						80	79	79					11																	111904215		2201	4297	6498	SO:0001583	missense	1737				glycolysis|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial pyruvate dehydrogenase complex	dihydrolipoyllysine-residue acetyltransferase activity|protein binding	g.chr11:111904215G>T	Y00978	CCDS8354.1	11q23.1	2008-02-05	2008-02-04		ENSG00000150768	ENSG00000150768	2.3.1.12		2896	protein-coding gene	gene with protein product	"E2 component of pyruvate dehydrogenase complex"	608770		DLTA		8102256	Standard	NM_001931		Approved	PDC-E2	uc001pmo.3	P10515	OTTHUMG00000133751	ENST00000280346.6:c.748G>T	11.37:g.111904215G>T	ENSP00000280346:p.Asp250Tyr					DLAT_ENST00000393051.1_Intron|DLAT_ENST00000537636.1_Missense_Mutation_p.D21Y	p.D250Y	NM_001931.4	NP_001922.2	P10515	ODP2_HUMAN		Epithelial(105;4.87e-07)|BRCA - Breast invasive adenocarcinoma(274;6.83e-07)|all cancers(92;9.63e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0557)	5	1407	+		all_cancers(61;4.53e-11)|all_epithelial(67;2.76e-06)|Melanoma(852;9.42e-06)|all_hematologic(158;0.000885)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0512)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)	250			Lipoyl-binding 2.		Q16783|Q53EP3	Missense_Mutation	SNP	ENST00000280346.6	37	c.748G>T	CCDS8354.1	.	.	.	.	.	.	.	.	.	.	G	26.0	4.697992	0.88830	.	.	ENSG00000150768	ENST00000280346;ENST00000534998;ENST00000531306;ENST00000537636	T;T;T	0.61980	0.06;0.06;0.06	6.16	5.25	0.73442	Single hybrid motif (1);Biotin/lipoyl attachment (2);	0.000000	0.85682	D	0.000000	D	0.88217	0.6377	H	0.98769	4.325	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.93451	0.6802	10	0.87932	D	0	-14.7713	17.677	0.88233	0.0:0.1228:0.8772:0.0	.	250;250	Q86YI5;P10515	.;ODP2_HUMAN	Y	250;218;82;21	ENSP00000280346:D250Y;ENSP00000433432:D82Y;ENSP00000442427:D21Y	ENSP00000280346:D250Y	D	+	1	0	DLAT	111409425	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.386000	0.97228	1.607000	0.50170	0.650000	0.86243	GAC		0.458	DLAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258167.1	NM_001931		21	14	1	0	1.2644e-06	1	1.31806e-06	21	14					T	111904215	G	T	111904215	3	4	435	1	0	0	0	0	1	0	0	0	4549	942	33	5	766	5	DLAT	11	111904215	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	156630	111904215	23102301	5412	26337											
ANKK1	255239	broad.mit.edu	37	chr11	113270280	113270280	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagagaaacctgagaacacCactgcacctggcagtagagc	14	4	11	12	0	0	3	0	1	0	3	0	5	0	3	3	1	4	4	3	1	3	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:113270280C>A	ENST00000303941.3	+	8	1683	c.1589C>A	c.(1588-1590)cCa>cAa	p.P530Q		NM_178510.1	NP_848605.1	Q8NFD2	ANKK1_HUMAN	ankyrin repeat and kinase domain containing 1	530							ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(14)|ovary(1)|stomach(1)	29		all_cancers(61;1.53e-11)|all_epithelial(67;3e-06)|Melanoma(852;4.04e-05)|all_hematologic(158;0.000315)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0461)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Prostate(24;0.194)		BRCA - Breast invasive adenocarcinoma(274;4.82e-06)|Epithelial(105;5.41e-05)|all cancers(92;0.000442)|OV - Ovarian serous cystadenocarcinoma(223;0.238)		CTGAGAACACCACTGCACCTG	0.612																																						ENST00000303941.3																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(14)|ovary(1)|stomach(1)	29						c.(1588-1590)cCa>cAa		ankyrin repeat and kinase domain containing 1							37	43	41					11																	113270280		2044	4196	6240	SO:0001583	missense	255239						ATP binding|protein serine/threonine kinase activity	g.chr11:113270280C>A	AJ541797	CCDS44734.1	11q23.2	2013-01-10			ENSG00000170209	ENSG00000170209		"Ankyrin repeat domain containing"	21027	protein-coding gene	gene with protein product		608774				15146457	Standard	NM_178510		Approved	X-kinase	uc001pny.3	Q8NFD2	OTTHUMG00000167715	ENST00000303941.3:c.1589C>A	11.37:g.113270280C>A	ENSP00000306678:p.Pro530Gln						p.P530Q	NM_178510.1	NP_848605.1	Q8NFD2	ANKK1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.82e-06)|Epithelial(105;5.41e-05)|all cancers(92;0.000442)|OV - Ovarian serous cystadenocarcinoma(223;0.238)	8	1683	+		all_cancers(61;1.53e-11)|all_epithelial(67;3e-06)|Melanoma(852;4.04e-05)|all_hematologic(158;0.000315)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0461)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Prostate(24;0.194)	530						Missense_Mutation	SNP	ENST00000303941.3	37	c.1589C>A	CCDS44734.1	.	.	.	.	.	.	.	.	.	.	C	19.71	3.878293	0.72294	.	.	ENSG00000170209	ENST00000303941	T	0.22134	1.97	4.73	4.73	0.59995	Ankyrin repeat-containing domain (3);	0.107858	0.40908	D	0.000997	T	0.61899	0.2384	H	0.97103	3.94	0.41578	D	0.988722	D	0.89917	1.0	D	0.87578	0.998	T	0.77133	-0.2700	10	0.87932	D	0	-22.1052	16.8663	0.86029	0.0:1.0:0.0:0.0	.	530	Q8NFD2	ANKK1_HUMAN	Q	530	ENSP00000306678:P530Q	ENSP00000306678:P530Q	P	+	2	0	ANKK1	112775490	0.873000	0.30073	0.382000	0.26119	0.911000	0.54048	5.722000	0.68485	2.466000	0.83321	0.563000	0.77884	CCA		0.612	ANKK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395830.1	NM_178510		5	4	1	0	0.00116845	1	0.0011864	5	4					A	113270280	C	A	113270280	3	1	435	1	0	0	0	0	1	0	0	0	631	594	21	5	1619	5	ANKK1	11	113270280	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	1366065	113270280	21736236	5413	26338											
USP28	57646	broad.mit.edu	37	chr11	113675464	113675464	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcttgagccaccttcataatGctgattgatctgtgtgggac	8	13	11	9	0	2	3	1	3	1	0	2	4	2	4	2	1	2	2	2	1	1	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:113675464G>A	ENST00000003302.4	-	21	2657	c.2589C>T	c.(2587-2589)agC>agT	p.S863S	USP28_ENST00000260188.5_Silent_p.S831S|USP28_ENST00000544967.1_Silent_p.S539S|USP28_ENST00000545540.1_Silent_p.S706S	NM_020886.2	NP_065937.1	Q96RU2	UBP28_HUMAN	ubiquitin specific peptidase 28	863					cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|protein deubiquitination (GO:0016579)|response to ionizing radiation (GO:0010212)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			breast(4)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(24)|ovary(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	59		all_cancers(61;3.74e-18)|all_epithelial(67;3.75e-11)|Melanoma(852;1.46e-05)|all_hematologic(158;4.65e-05)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|Prostate(24;0.0153)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|Epithelial(105;0.000122)|all cancers(92;0.00104)		CCTTCATAATGCTGATTGATC	0.438																																					Melanoma(4;162 555 7664)|GBM(79;500 2010 17506)|Esophageal Squamous(9;463 924 15765)	ENST00000003302.4																			0				breast(4)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(24)|ovary(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	59						c.(2587-2589)agC>agT		ubiquitin specific peptidase 28							144	131	136					11																	113675464		2201	4296	6497	SO:0001819	synonymous_variant	57646				cell proliferation|DNA damage checkpoint|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA repair|protein deubiquitination|response to ionizing radiation|ubiquitin-dependent protein catabolic process	nucleolus|nucleoplasm	protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr11:113675464G>A	AB040948	CCDS31680.1, CCDS73394.1	11q23	2008-04-11	2005-08-08		ENSG00000048028	ENSG00000048028		"Ubiquitin-specific peptidases"	12625	protein-coding gene	gene with protein product		610748	"ubiquitin specific protease 28"			12838346, 11597335	Standard	XM_005271630		Approved	KIAA1515	uc001poh.3	Q96RU2	OTTHUMG00000168205	ENST00000003302.4:c.2589C>T	11.37:g.113675464G>A						USP28_ENST00000260188.5_Silent_p.S831S|USP28_ENST00000545540.1_Silent_p.S706S|USP28_ENST00000544967.1_Silent_p.S539S	p.S863S	NM_020886.2	NP_065937.1	Q96RU2	UBP28_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|Epithelial(105;0.000122)|all cancers(92;0.00104)	21	2657	-		all_cancers(61;3.74e-18)|all_epithelial(67;3.75e-11)|Melanoma(852;1.46e-05)|all_hematologic(158;4.65e-05)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|Prostate(24;0.0153)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)	863					B0YJC0|B0YJC1|Q9P213	Silent	SNP	ENST00000003302.4	37	c.2589C>T	CCDS31680.1																																																																																				0.438	USP28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398789.1			25	52	0	0	0	1	0	25	52					A	113675464	G	A	113675464	2	1	435	1	0	0	0	0	0	0	0	1	17055	1310	46	3		3	USP28	11	113675464	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	405184	113675464	21331052	5414	26339											
USP28	57646	broad.mit.edu	37	chr11	113675698	113675698	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agacaaggacatgctgaagtCgaggatcactgtgagaggtg	13	7	15	6	1	1	3	1	2	0	2	2	7	1	5	0	3	1	1	0	3	2	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:113675698C>T	ENST00000003302.4	-	20	2539	c.2471G>A	c.(2470-2472)cGa>cAa	p.R824Q	USP28_ENST00000260188.5_Missense_Mutation_p.R792Q|USP28_ENST00000544967.1_Missense_Mutation_p.R500Q|USP28_ENST00000545540.1_Missense_Mutation_p.R667Q	NM_020886.2	NP_065937.1	Q96RU2	UBP28_HUMAN	ubiquitin specific peptidase 28	824					cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|protein deubiquitination (GO:0016579)|response to ionizing radiation (GO:0010212)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			breast(4)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(24)|ovary(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	59		all_cancers(61;3.74e-18)|all_epithelial(67;3.75e-11)|Melanoma(852;1.46e-05)|all_hematologic(158;4.65e-05)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|Prostate(24;0.0153)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|Epithelial(105;0.000122)|all cancers(92;0.00104)		ATGCTGAAGTCGAGGATCACT	0.428																																					Melanoma(4;162 555 7664)|GBM(79;500 2010 17506)|Esophageal Squamous(9;463 924 15765)	ENST00000003302.4																			0				breast(4)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(24)|ovary(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	59						c.(2470-2472)cGa>cAa		ubiquitin specific peptidase 28							94	88	90					11																	113675698		2201	4296	6497	SO:0001583	missense	57646				cell proliferation|DNA damage checkpoint|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA repair|protein deubiquitination|response to ionizing radiation|ubiquitin-dependent protein catabolic process	nucleolus|nucleoplasm	protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr11:113675698C>T	AB040948	CCDS31680.1, CCDS73394.1	11q23	2008-04-11	2005-08-08		ENSG00000048028	ENSG00000048028		"Ubiquitin-specific peptidases"	12625	protein-coding gene	gene with protein product		610748	"ubiquitin specific protease 28"			12838346, 11597335	Standard	XM_005271630		Approved	KIAA1515	uc001poh.3	Q96RU2	OTTHUMG00000168205	ENST00000003302.4:c.2471G>A	11.37:g.113675698C>T	ENSP00000003302:p.Arg824Gln					USP28_ENST00000260188.5_Missense_Mutation_p.R792Q|USP28_ENST00000545540.1_Missense_Mutation_p.R667Q|USP28_ENST00000544967.1_Missense_Mutation_p.R500Q	p.R824Q	NM_020886.2	NP_065937.1	Q96RU2	UBP28_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|Epithelial(105;0.000122)|all cancers(92;0.00104)	20	2539	-		all_cancers(61;3.74e-18)|all_epithelial(67;3.75e-11)|Melanoma(852;1.46e-05)|all_hematologic(158;4.65e-05)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|Prostate(24;0.0153)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)	824					B0YJC0|B0YJC1|Q9P213	Missense_Mutation	SNP	ENST00000003302.4	37	c.2471G>A	CCDS31680.1	.	.	.	.	.	.	.	.	.	.	C	36	5.866725	0.97043	.	.	ENSG00000048028	ENST00000003302;ENST00000260188;ENST00000544967;ENST00000545540	T;T;T;T	0.75367	-0.29;-0.4;-0.93;-0.35	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	D	0.86268	0.5892	M	0.69358	2.11	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.997;0.999;1.0	D	0.86268	0.1659	10	0.87932	D	0	-11.1278	20.3748	0.98911	0.0:1.0:0.0:0.0	.	667;824;500	B4E3L3;Q96RU2;G3V1N5	.;UBP28_HUMAN;.	Q	824;792;500;667	ENSP00000003302:R824Q;ENSP00000260188:R792Q;ENSP00000442431:R500Q;ENSP00000444991:R667Q	ENSP00000003302:R824Q	R	-	2	0	USP28	113180908	1.000000	0.71417	0.965000	0.40720	0.990000	0.78478	7.461000	0.80834	2.817000	0.96982	0.563000	0.77884	CGA		0.428	USP28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398789.1			15	25	0	0	0	1	0	15	25					T	113675698	C	T	113675698	3	4	435	1	0	0	0	0	1	0	0	0	17055	884	31	2	786	2	USP28	11	113675698	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	234	113675698	21330818	5415	26340											
USP28	57646	broad.mit.edu	37	chr11	113683227	113683227	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcatgcaagcgataaggcacCtgtaagtcagaatgtacatt	14	9	10	8	1	1	1	1	0	0	1	1	2	1	1	1	1	3	5	1	1	5	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:113683227C>T	ENST00000003302.4	-	16	1812		c.e16-1		USP28_ENST00000260188.5_Splice_Site|USP28_ENST00000544967.1_Splice_Site|USP28_ENST00000545540.1_Splice_Site	NM_020886.2	NP_065937.1	Q96RU2	UBP28_HUMAN	ubiquitin specific peptidase 28						cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|protein deubiquitination (GO:0016579)|response to ionizing radiation (GO:0010212)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			breast(4)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(24)|ovary(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	59		all_cancers(61;3.74e-18)|all_epithelial(67;3.75e-11)|Melanoma(852;1.46e-05)|all_hematologic(158;4.65e-05)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|Prostate(24;0.0153)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|Epithelial(105;0.000122)|all cancers(92;0.00104)		GATAAGGCACCTGTAAGTCAG	0.408																																					Melanoma(4;162 555 7664)|GBM(79;500 2010 17506)|Esophageal Squamous(9;463 924 15765)	ENST00000003302.4																			0				breast(4)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(24)|ovary(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	59						c.e16-1		ubiquitin specific peptidase 28							85	86	85					11																	113683227		2201	4296	6497	SO:0001630	splice_region_variant	57646				cell proliferation|DNA damage checkpoint|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA repair|protein deubiquitination|response to ionizing radiation|ubiquitin-dependent protein catabolic process	nucleolus|nucleoplasm	protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr11:113683227C>T	AB040948	CCDS31680.1, CCDS73394.1	11q23	2008-04-11	2005-08-08		ENSG00000048028	ENSG00000048028		"Ubiquitin-specific peptidases"	12625	protein-coding gene	gene with protein product		610748	"ubiquitin specific protease 28"			12838346, 11597335	Standard	XM_005271630		Approved	KIAA1515	uc001poh.3	Q96RU2	OTTHUMG00000168205	ENST00000003302.4:c.1744-1G>A	11.37:g.113683227C>T						USP28_ENST00000260188.5_Splice_Site|USP28_ENST00000545540.1_Splice_Site|USP28_ENST00000544967.1_Splice_Site		NM_020886.2	NP_065937.1	Q96RU2	UBP28_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|Epithelial(105;0.000122)|all cancers(92;0.00104)	16	1812	-		all_cancers(61;3.74e-18)|all_epithelial(67;3.75e-11)|Melanoma(852;1.46e-05)|all_hematologic(158;4.65e-05)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|Prostate(24;0.0153)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)						B0YJC0|B0YJC1|Q9P213	Splice_Site	SNP	ENST00000003302.4	37		CCDS31680.1	.	.	.	.	.	.	.	.	.	.	C	17.37	3.371341	0.61624	.	.	ENSG00000048028	ENST00000003302;ENST00000260188;ENST00000544967;ENST00000545540;ENST00000538475	.	.	.	4.85	3.93	0.45458	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.6709	0.68942	0.1461:0.8538:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	USP28	113188437	1.000000	0.71417	1.000000	0.80357	0.802000	0.45316	7.311000	0.78958	1.244000	0.43870	0.655000	0.94253	.		0.408	USP28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398789.1		Intron	15	41	0	0	0	1	0	15	41					T	113683227	C	T	113683227	5	4	435	1	0	0	0	0	0	0	1	0	17055	695	24	3	1530	3	USP28	11	113683227	Splice_Site	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	7529	113683227	21323289	5416	26341											
USP28	57646	broad.mit.edu	37	chr11	113704168	113704168	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttcctcagatgatcggaatgCtccctttaatagatccaggg	10	12	9	10	1	1	3	1	1	0	2	5	4	4	4	3	2	1	1	3	2	3	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:113704168C>T	ENST00000003302.4	-	7	801	c.733G>A	c.(733-735)Gca>Aca	p.A245T	USP28_ENST00000537706.1_Missense_Mutation_p.A245T|USP28_ENST00000260188.5_Missense_Mutation_p.A245T|USP28_ENST00000542033.1_5'UTR|USP28_ENST00000545540.1_Missense_Mutation_p.A120T	NM_020886.2	NP_065937.1	Q96RU2	UBP28_HUMAN	ubiquitin specific peptidase 28	245	USP.				cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|protein deubiquitination (GO:0016579)|response to ionizing radiation (GO:0010212)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			breast(4)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(24)|ovary(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	59		all_cancers(61;3.74e-18)|all_epithelial(67;3.75e-11)|Melanoma(852;1.46e-05)|all_hematologic(158;4.65e-05)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|Prostate(24;0.0153)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|Epithelial(105;0.000122)|all cancers(92;0.00104)		GATCGGAATGCTCCCTTTAAT	0.408																																					Melanoma(4;162 555 7664)|GBM(79;500 2010 17506)|Esophageal Squamous(9;463 924 15765)	ENST00000003302.4																			0				breast(4)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(24)|ovary(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	59						c.(733-735)Gca>Aca		ubiquitin specific peptidase 28							132	131	131					11																	113704168		2201	4296	6497	SO:0001583	missense	57646				cell proliferation|DNA damage checkpoint|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA repair|protein deubiquitination|response to ionizing radiation|ubiquitin-dependent protein catabolic process	nucleolus|nucleoplasm	protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr11:113704168C>T	AB040948	CCDS31680.1, CCDS73394.1	11q23	2008-04-11	2005-08-08		ENSG00000048028	ENSG00000048028		"Ubiquitin-specific peptidases"	12625	protein-coding gene	gene with protein product		610748	"ubiquitin specific protease 28"			12838346, 11597335	Standard	XM_005271630		Approved	KIAA1515	uc001poh.3	Q96RU2	OTTHUMG00000168205	ENST00000003302.4:c.733G>A	11.37:g.113704168C>T	ENSP00000003302:p.Ala245Thr					USP28_ENST00000260188.5_Missense_Mutation_p.A245T|USP28_ENST00000545540.1_Missense_Mutation_p.A120T|USP28_ENST00000542033.1_5'UTR|USP28_ENST00000537706.1_Missense_Mutation_p.A245T	p.A245T	NM_020886.2	NP_065937.1	Q96RU2	UBP28_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|Epithelial(105;0.000122)|all cancers(92;0.00104)	7	801	-		all_cancers(61;3.74e-18)|all_epithelial(67;3.75e-11)|Melanoma(852;1.46e-05)|all_hematologic(158;4.65e-05)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|Prostate(24;0.0153)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)	245					B0YJC0|B0YJC1|Q9P213	Missense_Mutation	SNP	ENST00000003302.4	37	c.733G>A	CCDS31680.1	.	.	.	.	.	.	.	.	.	.	C	25.1	4.603968	0.87157	.	.	ENSG00000048028	ENST00000003302;ENST00000260188;ENST00000545540;ENST00000538475;ENST00000537706;ENST00000537642	T;T;T;T;T;T	0.74106	1.54;1.54;1.54;0.87;-0.81;3.39	4.73	4.73	0.59995	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.000000	0.85682	D	0.000000	D	0.83991	0.5374	M	0.70595	2.14	0.58432	D	0.999999	D;P;P;P	0.60575	0.988;0.812;0.78;0.835	D;B;P;P	0.67382	0.951;0.398;0.474;0.728	T	0.81193	-0.1044	10	0.23302	T	0.38	-13.8713	17.9653	0.89098	0.0:1.0:0.0:0.0	.	245;120;245;245	B4E2Q2;B4E3L3;Q6NZX9;Q96RU2	.;.;.;UBP28_HUMAN	T	245;245;120;9;245;144	ENSP00000003302:A245T;ENSP00000260188:A245T;ENSP00000444991:A120T;ENSP00000442257:A9T;ENSP00000445743:A245T;ENSP00000440799:A144T	ENSP00000003302:A245T	A	-	1	0	USP28	113209378	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.588000	0.67517	2.488000	0.83962	0.553000	0.69018	GCA		0.408	USP28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398789.1			35	57	0	0	0	1	0	35	57					T	113704168	C	T	113704168	3	4	435	1	0	0	0	0	1	0	0	0	17055	797	28	3	2576	3	USP28	11	113704168	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	20941	113704168	21302348	5417	26342											
ZBTB16	7704	broad.mit.edu	37	chr11	114118039	114118039	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtgcaatggctgtggcaagAagttcagcctcaagcatcag	12	8	12	9	0	3	1	3	0	0	1	3	1	3	1	1	2	3	5	1	2	4	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:114118039A>G	ENST00000335953.4	+	6	2124	c.1744A>G	c.(1744-1746)Aag>Gag	p.K582E	ZBTB16_ENST00000392996.2_Missense_Mutation_p.K582E|RP11-64D24.2_ENST00000544925.1_RNA|ZBTB16_ENST00000535379.1_3'UTR	NM_006006.4	NP_005997.2	Q05516	ZBT16_HUMAN	zinc finger and BTB domain containing 16	582					anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|cartilage development (GO:0051216)|central nervous system development (GO:0007417)|embryonic digit morphogenesis (GO:0042733)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic pattern specification (GO:0009880)|forelimb morphogenesis (GO:0035136)|hemopoiesis (GO:0030097)|male germ-line stem cell asymmetric division (GO:0048133)|mesonephros development (GO:0001823)|myeloid cell differentiation (GO:0030099)|negative regulation of cell proliferation (GO:0008285)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cartilage development (GO:0061036)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of NK T cell differentiation (GO:0051138)|positive regulation of ossification (GO:0045778)|positive regulation of transcription, DNA-templated (GO:0045893)|protein localization to nucleus (GO:0034504)|protein ubiquitination (GO:0016567)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|nuclear body (GO:0016604)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)|transcriptional repressor complex (GO:0017053)	DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|large_intestine(2)|skin(1)|upper_aerodigestive_tract(2)	6		all_cancers(61;3.79e-18)|all_epithelial(67;2.32e-10)|all_hematologic(158;2.96e-05)|Melanoma(852;0.000362)|Acute lymphoblastic leukemia(157;0.00108)|Breast(348;0.0104)|all_neural(223;0.0294)|Prostate(24;0.0318)|Medulloblastoma(222;0.0438)		BRCA - Breast invasive adenocarcinoma(274;6.75e-06)|Epithelial(105;0.000181)|all cancers(92;0.0018)		CTGTGGCAAGAAGTTCAGCCT	0.592																																						ENST00000335953.4																			0				central_nervous_system(1)|large_intestine(2)|skin(1)|upper_aerodigestive_tract(2)	6						c.(1744-1746)Aag>Gag		zinc finger and BTB domain containing 16							97	77	84					11																	114118039		2201	4296	6497	SO:0001583	missense	7704				apoptosis|central nervous system development|mesonephros development|myeloid cell differentiation|negative regulation of myeloid cell differentiation|negative regulation of transcription, DNA-dependent	nuclear speck|PML body|transcriptional repressor complex	protein homodimerization activity|zinc ion binding	g.chr11:114118039A>G	Z19002	CCDS8367.1	11q23	2013-10-17	2004-07-16	2004-07-16	ENSG00000109906	ENSG00000109906		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	12930	protein-coding gene	gene with protein product	"promyelocytic leukaemia zinc finger"	176797	"zinc finger protein 145 (Kruppel-like, expressed in promyelocytic leukemia)"	ZNF145			Standard	XM_006718899		Approved	PLZF	uc001poq.3	Q05516	OTTHUMG00000168243	ENST00000335953.4:c.1744A>G	11.37:g.114118039A>G	ENSP00000338157:p.Lys582Glu					RP11-64D24.2_ENST00000544925.1_RNA|ZBTB16_ENST00000535379.1_3'UTR|ZBTB16_ENST00000392996.2_Missense_Mutation_p.K582E	p.K582E	NM_006006.4	NP_005997.2	Q05516	ZBT16_HUMAN		BRCA - Breast invasive adenocarcinoma(274;6.75e-06)|Epithelial(105;0.000181)|all cancers(92;0.0018)	6	2124	+		all_cancers(61;3.79e-18)|all_epithelial(67;2.32e-10)|all_hematologic(158;2.96e-05)|Melanoma(852;0.000362)|Acute lymphoblastic leukemia(157;0.00108)|Breast(348;0.0104)|all_neural(223;0.0294)|Prostate(24;0.0318)|Medulloblastoma(222;0.0438)	582					Q8TAL4	Missense_Mutation	SNP	ENST00000335953.4	37	c.1744A>G	CCDS8367.1	.	.	.	.	.	.	.	.	.	.	a	26.5	4.740421	0.89573	.	.	ENSG00000109906	ENST00000335953;ENST00000392996;ENST00000310883	T;T	0.19250	2.16;2.16	5.57	5.57	0.84162	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.065068	0.64402	D	0.000012	T	0.31295	0.0792	N	0.16903	0.455	0.54753	D	0.999985	D	0.69078	0.997	D	0.80764	0.994	T	0.15407	-1.0438	10	0.52906	T	0.07	.	15.7234	0.77732	1.0:0.0:0.0:0.0	.	582	Q05516	ZBT16_HUMAN	E	582;582;459	ENSP00000338157:K582E;ENSP00000376721:K582E	ENSP00000309507:K459E	K	+	1	0	ZBTB16	113623249	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.239000	0.95389	2.113000	0.64589	0.529000	0.55759	AAG		0.592	ZBTB16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398940.1	NM_006006		3	17	0	0	0	1	0	3	17					G	114118039	A	G	114118039	3	3	435	1	0	0	0	0	1	0	0	0	17523	247	9	4	1762	4	ZBTB16	11	114118039	Missense_Mutation	SNP	A	TCGA-XK-AAIW-01A-11D-A41K-08	413871	114118039	20888477	5418	26343											
NNMT	4837	broad.mit.edu	37	chr11	114168749	114168749	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcctctctgcttgtgaatcCtttaaggagatcgtcgtcac	7	14	8	12	2	2	2	1	1	1	1	7	3	4	2	2	1	1	1	2	1	2	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:114168749C>A	ENST00000535401.1	+	4	495	c.231C>A	c.(229-231)tcC>tcA	p.S77S	RP11-64D24.2_ENST00000544925.1_RNA|NNMT_ENST00000541754.1_5'UTR|NNMT_ENST00000542647.1_5'Flank|NNMT_ENST00000299964.3_Silent_p.S77S|NNMT_ENST00000545255.1_5'Flank			P40261	NNMT_HUMAN	nicotinamide N-methyltransferase	77					methylation (GO:0032259)|organ regeneration (GO:0031100)|response to drug (GO:0042493)|response to organonitrogen compound (GO:0010243)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	nicotinamide N-methyltransferase activity (GO:0008112)			kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16		all_cancers(61;4.83e-16)|all_epithelial(67;7.28e-09)|all_hematologic(158;0.000135)|Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0906)		BRCA - Breast invasive adenocarcinoma(274;2.79e-06)|Epithelial(105;1.32e-05)|all cancers(92;0.000144)|OV - Ovarian serous cystadenocarcinoma(223;0.128)	Niacin(DB00627)	CTTGTGAATCCTTTAAGGAGA	0.532																																						ENST00000535401.1																			0				kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16						c.(229-231)tcC>tcA		nicotinamide N-methyltransferase	Niacin(DB00627)						164	157	159					11																	114168749		2201	4296	6497	SO:0001819	synonymous_variant	4837				xenobiotic metabolic process	cytosol	nicotinamide N-methyltransferase activity|pyridine N-methyltransferase activity	g.chr11:114168749C>A	U08021	CCDS8368.1	11q23.1	2007-08-15					2.1.1.1		7861	protein-coding gene	gene with protein product		600008				8575745	Standard	NM_006169		Approved		uc001pos.1	P40261		ENST00000535401.1:c.231C>A	11.37:g.114168749C>A						NNMT_ENST00000299964.3_Silent_p.S77S|RP11-64D24.2_ENST00000544925.1_RNA|NNMT_ENST00000541754.1_5'UTR	p.S77S			P40261	NNMT_HUMAN		BRCA - Breast invasive adenocarcinoma(274;2.79e-06)|Epithelial(105;1.32e-05)|all cancers(92;0.000144)|OV - Ovarian serous cystadenocarcinoma(223;0.128)	4	495	+		all_cancers(61;4.83e-16)|all_epithelial(67;7.28e-09)|all_hematologic(158;0.000135)|Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0906)	77						Silent	SNP	ENST00000535401.1	37	c.231C>A	CCDS8368.1																																																																																				0.532	NNMT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398951.1	NM_006169		34	49	1	0	1.90571e-15	1	2.08616e-15	34	49					A	114168749	C	A	114168749	2	1	435	1	0	0	0	0	0	0	0	1	10509	668	24	5		5	NNMT	11	114168749	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	50710	114168749	20837767	5419	26344											
FAM55A	120400	broad.mit.edu	37	chr11	114393111	114393111	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctatcagagagtagagctggAaagtgacgaagggatagcta	15	7	14	5	1	1	3	1	1	0	2	1	7	1	5	0	2	2	3	0	2	6	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:114393111A>G	ENST00000424269.1	-	5	1222	c.1223T>C	c.(1222-1224)tTc>tCc	p.F408S	NXPE1_ENST00000251921.2_Missense_Mutation_p.F266S|NXPE1_ENST00000536271.1_Missense_Mutation_p.F124S			Q8N323	NXPE1_HUMAN	neurexophilin and PC-esterase domain family, member 1	408						extracellular region (GO:0005576)											GTAGAGCTGGAAAGTGACGAA	0.423																																						ENST00000536271.1																			0											c.(370-372)tTc>tCc		neurexophilin and PC-esterase domain family, member 1							151	150	150					11																	114393111		2201	4296	6497	SO:0001583	missense	120400							g.chr11:114393111A>G	BC029049	CCDS8372.1	11q23.2	2012-06-14	2012-06-11	2012-06-11	ENSG00000095110	ENSG00000095110			28527	protein-coding gene	gene with protein product			"family with sequence similarity 55, member A"	FAM55A		12477932	Standard	NM_152315		Approved	MGC34290	uc001ppa.3	Q8N323	OTTHUMG00000168284	ENST00000424269.1:c.1223T>C	11.37:g.114393111A>G	ENSP00000411690:p.Phe408Ser					NXPE1_ENST00000424269.1_Missense_Mutation_p.F408S|NXPE1_ENST00000251921.2_Missense_Mutation_p.F266S	p.F124S							4	1614	-								B0YJ13	Missense_Mutation	SNP	ENST00000424269.1	37	c.371T>C		.	.	.	.	.	.	.	.	.	.	A	6.021	0.372194	0.11409	.	.	ENSG00000095110	ENST00000536271;ENST00000251921;ENST00000424269	T;T;T	0.15834	2.39;2.39;2.39	4.44	-6.98	0.01611	.	5.161920	0.00166	N	0.000008	T	0.04588	0.0125	N	0.01529	-0.815	0.09310	N	1	B	0.02656	0.0	B	0.08055	0.003	T	0.27400	-1.0075	10	0.20519	T	0.43	.	2.1283	0.03744	0.2952:0.1115:0.3745:0.2188	.	408	Q8N323	FA55A_HUMAN	S	124;266;408	ENSP00000445200:F124S;ENSP00000251921:F266S;ENSP00000411690:F408S	ENSP00000251921:F266S	F	-	2	0	FAM55A	113898321	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.627000	0.05521	-1.063000	0.03177	-0.344000	0.07964	TTC		0.423	NXPE1-201	KNOWN	basic	protein_coding	protein_coding		NM_152315		9	68	0	0	0	1	0	9	68					G	114393111	A	G	114393111	3	3	435	1	0	0	0	0	1	0	0	0	5584	246	9	4	424	4	FAM55A	11	114393111	Missense_Mutation	SNP	A	TCGA-XK-AAIW-01A-11D-A41K-08	224362	114393111	20613405	5420	26345											
FAM55A	120400	broad.mit.edu	37	chr11	114401164	114401164	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgccctccagagagccgacGccccttcactggggtggatg	6	8	13	14	2	1	1	1	0	0	1	2	4	2	2	5	3	2	0	5	3	0	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:114401164G>A	ENST00000424269.1	-	2	565	c.566C>T	c.(565-567)gCg>gTg	p.A189V	NXPE1_ENST00000251921.2_Missense_Mutation_p.A47V|NXPE1_ENST00000536312.1_Missense_Mutation_p.A189V|NXPE1_ENST00000536271.1_5'Flank			Q8N323	NXPE1_HUMAN	neurexophilin and PC-esterase domain family, member 1	189						extracellular region (GO:0005576)											GAGAGCCGACGCCCCTTCACT	0.512																																						ENST00000536312.1																			0											c.(565-567)gCg>gTg		neurexophilin and PC-esterase domain family, member 1							72	76	75					11																	114401164		2201	4296	6497	SO:0001583	missense	120400							g.chr11:114401164G>A	BC029049	CCDS8372.1	11q23.2	2012-06-14	2012-06-11	2012-06-11	ENSG00000095110	ENSG00000095110			28527	protein-coding gene	gene with protein product			"family with sequence similarity 55, member A"	FAM55A		12477932	Standard	NM_152315		Approved	MGC34290	uc001ppa.3	Q8N323	OTTHUMG00000168284	ENST00000424269.1:c.566C>T	11.37:g.114401164G>A	ENSP00000411690:p.Ala189Val					NXPE1_ENST00000424269.1_Missense_Mutation_p.A189V|NXPE1_ENST00000251921.2_Missense_Mutation_p.A47V	p.A189V							6	1458	-								B0YJ13	Missense_Mutation	SNP	ENST00000424269.1	37	c.566C>T		.	.	.	.	.	.	.	.	.	.	G	0.014	-1.591102	0.00864	.	.	ENSG00000095110	ENST00000251921;ENST00000424269;ENST00000536312	T;T;T	0.25085	3.38;3.64;1.82	4.52	-4.42	0.03579	.	0.940554	0.08764	N	0.897312	T	0.04137	0.0115	N	0.00102	-2.13	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.42799	-0.9430	10	0.02654	T	1	.	11.447	0.50129	0.5656:0.0:0.4344:0.0	.	189	F5H6W7	.	V	47;189;189	ENSP00000251921:A47V;ENSP00000411690:A189V;ENSP00000442984:A189V	ENSP00000251921:A47V	A	-	2	0	FAM55A	113906374	0.003000	0.15002	0.002000	0.10522	0.357000	0.29423	0.961000	0.29267	-1.090000	0.03069	-0.880000	0.02959	GCG		0.512	NXPE1-201	KNOWN	basic	protein_coding	protein_coding		NM_152315		19	24	0	0	0	1	0	19	24					A	114401164	G	A	114401164	3	1	435	1	0	0	0	0	1	0	0	0	5584	1087	38	1	1093	1	FAM55A	11	114401164	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	8053	114401164	20605352	5421	26346											
FAM55D	54827	broad.mit.edu	37	chr11	114452476	114452476	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggagacactaattgtattgAatttttccataatctctaca	13	16	5	7	0	1	2	0	1	1	1	3	3	2	2	1	1	1	1	1	1	5	8			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:114452476A>G	ENST00000375478.3	-	4	1043	c.863T>C	c.(862-864)tTc>tCc	p.F288S	NXPE4_ENST00000424261.2_Missense_Mutation_p.F4S	NM_001077639.1	NP_001071107.1	Q6UWF7	NXPE4_HUMAN	neurexophilin and PC-esterase domain family, member 4	288						extracellular vesicular exosome (GO:0070062)		p.F288C(1)									AATTGTATTGAATTTTTCCAT	0.378																																						ENST00000375478.3																			1	Substitution - Missense(1)	p.F288C(1)	large_intestine(1)								c.(862-864)tTc>tCc		neurexophilin and PC-esterase domain family, member 4							132	126	128					11																	114452476		1877	4105	5982	SO:0001583	missense	54827							g.chr11:114452476A>G	AK000134	CCDS41718.1, CCDS44737.1	11q23.3	2012-06-14	2012-06-11	2012-06-11	ENSG00000137634	ENSG00000137634			23117	protein-coding gene	gene with protein product			"chromosome 11 open reading frame 33", "family with sequence similarity 55, member D"	C11orf33, FAM55D		20056006	Standard	NM_017678		Approved	FLJ20127	uc001ppc.3	Q6UWF7	OTTHUMG00000168291	ENST00000375478.3:c.863T>C	11.37:g.114452476A>G	ENSP00000364627:p.Phe288Ser					NXPE4_ENST00000424261.2_Missense_Mutation_p.F4S	p.F288S	NM_001077639.1	NP_001071107.1					4	1043	-								Q6QDB4|Q9NXP5	Missense_Mutation	SNP	ENST00000375478.3	37	c.863T>C	CCDS41718.1	.	.	.	.	.	.	.	.	.	.	A	8.954	0.968860	0.18659	.	.	ENSG00000137634	ENST00000424261;ENST00000375478	T;T	0.15603	2.41;2.83	4.69	1.09	0.20402	.	0.590181	0.15028	N	0.284648	T	0.11410	0.0278	L	0.33093	0.98	0.09310	N	1	B	0.27951	0.195	B	0.29524	0.103	T	0.35025	-0.9805	10	0.21014	T	0.42	.	7.4356	0.27154	0.7315:0.0:0.2685:0.0	.	288	Q6UWF7	FA55D_HUMAN	S	4;288	ENSP00000401503:F4S;ENSP00000364627:F288S	ENSP00000364627:F288S	F	-	2	0	FAM55D	113957686	0.013000	0.17824	0.017000	0.16124	0.721000	0.41392	1.679000	0.37597	-0.007000	0.14345	0.460000	0.39030	TTC		0.378	NXPE4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000399179.1	NM_017678		15	25	0	0	0	1	0	15	25					G	114452476	A	G	114452476	3	3	435	1	0	0	0	0	1	0	0	0	5587	246	9	4	783	4	FAM55D	11	114452476	Missense_Mutation	SNP	A	TCGA-XK-AAIW-01A-11D-A41K-08	51312	114452476	20554040	5422	26347											
CADM1	23705	broad.mit.edu	37	chr11	115099882	115099882	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aggtttccagtgaccgcaggGtgctccacctggcagatcac	8	8	12	13	1	1	2	1	1	0	1	3	2	3	2	4	3	1	4	4	3	0	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:115099882G>A	ENST00000452722.3	-	5	692	c.672C>T	c.(670-672)caC>caT	p.H224H	CADM1_ENST00000331581.6_Silent_p.H224H|CADM1_ENST00000542447.2_Silent_p.H224H|CADM1_ENST00000537140.1_5'UTR|CADM1_ENST00000537058.1_Silent_p.H224H|CADM1_ENST00000536727.1_Silent_p.H224H	NM_014333.3	NP_055148.3			cell adhesion molecule 1											cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(9)|ovary(2)|skin(1)	32	all_hematologic(175;0.0628)	all_cancers(61;2.98e-14)|all_epithelial(67;2.64e-08)|all_hematologic(158;0.000154)|Melanoma(852;0.000952)|Acute lymphoblastic leukemia(157;0.00101)|Breast(348;0.0102)|Medulloblastoma(222;0.0429)|Prostate(24;0.145)|all_neural(223;0.237)		BRCA - Breast invasive adenocarcinoma(274;5.01e-06)|Epithelial(105;0.000305)|all cancers(92;0.00303)		TGACCGCAGGGTGCTCCACCT	0.532																																						ENST00000542447.2																			0				cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(9)|ovary(2)|skin(1)	32						c.(670-672)caC>caT		cell adhesion molecule 1							99	74	83					11																	115099882		2201	4296	6497	SO:0001819	synonymous_variant	23705				adherens junction organization|apoptosis|cell differentiation|cell junction assembly|cell recognition|detection of stimulus|heterophilic cell-cell adhesion|homophilic cell adhesion|multicellular organismal development|positive regulation of cytokine secretion|spermatogenesis|susceptibility to natural killer cell mediated cytotoxicity	basolateral plasma membrane|cell-cell junction|integral to membrane	PDZ domain binding|protein C-terminus binding|protein homodimerization activity|receptor binding	g.chr11:115099882G>A	AB017563	CCDS8373.1, CCDS53711.1, CCDS73397.1, CCDS73398.1, CCDS73399.1	11q23.2	2013-01-29	2007-02-07	2007-02-07	ENSG00000182985	ENSG00000182985		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5951	protein-coding gene	gene with protein product	"nectin-like 2"	605686	"tumor suppressor in lung cancer 1", "immunoglobulin superfamily, member 4"	TSLC1, IGSF4		10610705	Standard	NM_014333		Approved	NECL2, ST17, BL2, SYNCAM, IGSF4A, Necl-2, SYNCAM1, RA175	uc001ppi.4	Q9BY67	OTTHUMG00000168202	ENST00000452722.3:c.672C>T	11.37:g.115099882G>A						CADM1_ENST00000537058.1_Silent_p.H224H|CADM1_ENST00000452722.2_Silent_p.H224H|CADM1_ENST00000537140.1_5'UTR|CADM1_ENST00000536727.1_Silent_p.H224H|CADM1_ENST00000331581.6_Silent_p.H224H	p.H224H	NM_001098517.1	NP_001091987.1	Q9BY67	CADM1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.01e-06)|Epithelial(105;0.000305)|all cancers(92;0.00303)	5	800	-	all_hematologic(175;0.0628)	all_cancers(61;2.98e-14)|all_epithelial(67;2.64e-08)|all_hematologic(158;0.000154)|Melanoma(852;0.000952)|Acute lymphoblastic leukemia(157;0.00101)|Breast(348;0.0102)|Medulloblastoma(222;0.0429)|Prostate(24;0.145)|all_neural(223;0.237)	224			Ig-like C2-type 1.			Silent	SNP	ENST00000452722.3	37	c.672C>T	CCDS8373.1	.	.	.	.	.	.	.	.	.	.	G	9.506	1.104437	0.20632	.	.	ENSG00000182985	ENST00000545380	.	.	.	6.17	4.3	0.51218	.	.	.	.	.	T	0.61862	0.2381	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.58584	-0.7611	4	.	.	.	.	10.4617	0.44583	0.1988:0.0:0.8011:0.0	.	.	.	.	S	223	.	.	P	-	1	0	CADM1	114605092	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	2.059000	0.41384	0.930000	0.37217	-0.136000	0.14681	CCC		0.532	CADM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000398753.2	NM_014333		25	35	0	0	0	1	0	25	35					A	115099882	G	A	115099882	2	1	435	1	0	0	0	0	0	0	0	1	2566	1252	44	3		3	CADM1	11	115099882	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	647406	115099882	19906634	5423	26348											
CADM1	23705	broad.mit.edu	37	chr11	115109305	115109305	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccttcatcagaaattgagacGtttgtcaatgatactttgag	12	14	8	7	1	3	4	3	3	0	2	3	5	3	4	1	0	1	1	1	0	3	5	rs372592095		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:115109305G>A	ENST00000452722.3	-	3	359	c.339C>T	c.(337-339)aaC>aaT	p.N113N	CADM1_ENST00000331581.6_Silent_p.N113N|CADM1_ENST00000542447.2_Silent_p.N113N|CADM1_ENST00000537140.1_5'UTR|CADM1_ENST00000537058.1_Silent_p.N113N|CADM1_ENST00000536727.1_Silent_p.N113N	NM_014333.3	NP_055148.3			cell adhesion molecule 1											cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(9)|ovary(2)|skin(1)	32	all_hematologic(175;0.0628)	all_cancers(61;2.98e-14)|all_epithelial(67;2.64e-08)|all_hematologic(158;0.000154)|Melanoma(852;0.000952)|Acute lymphoblastic leukemia(157;0.00101)|Breast(348;0.0102)|Medulloblastoma(222;0.0429)|Prostate(24;0.145)|all_neural(223;0.237)		BRCA - Breast invasive adenocarcinoma(274;5.01e-06)|Epithelial(105;0.000305)|all cancers(92;0.00303)		AAATTGAGACGTTTGTCAATG	0.418																																						ENST00000542447.2																			0				cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(9)|ovary(2)|skin(1)	32						c.(337-339)aaC>aaT		cell adhesion molecule 1		G	,	1,4401	2.1+/-5.4	0,1,2200	117	111	113		339,339	-4.4	0.9	11		113	0,8592		0,0,4296	no	coding-synonymous,coding-synonymous	CADM1	NM_001098517.1,NM_014333.3	,	0,1,6496	AA,AG,GG		0.0,0.0227,0.0077	,	113/415,113/443	115109305	1,12993	2201	4296	6497	SO:0001819	synonymous_variant	23705				adherens junction organization|apoptosis|cell differentiation|cell junction assembly|cell recognition|detection of stimulus|heterophilic cell-cell adhesion|homophilic cell adhesion|multicellular organismal development|positive regulation of cytokine secretion|spermatogenesis|susceptibility to natural killer cell mediated cytotoxicity	basolateral plasma membrane|cell-cell junction|integral to membrane	PDZ domain binding|protein C-terminus binding|protein homodimerization activity|receptor binding	g.chr11:115109305G>A	AB017563	CCDS8373.1, CCDS53711.1, CCDS73397.1, CCDS73398.1, CCDS73399.1	11q23.2	2013-01-29	2007-02-07	2007-02-07	ENSG00000182985	ENSG00000182985		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5951	protein-coding gene	gene with protein product	"nectin-like 2"	605686	"tumor suppressor in lung cancer 1", "immunoglobulin superfamily, member 4"	TSLC1, IGSF4		10610705	Standard	NM_014333		Approved	NECL2, ST17, BL2, SYNCAM, IGSF4A, Necl-2, SYNCAM1, RA175	uc001ppi.4	Q9BY67	OTTHUMG00000168202	ENST00000452722.3:c.339C>T	11.37:g.115109305G>A						CADM1_ENST00000537058.1_Silent_p.N113N|CADM1_ENST00000452722.2_Silent_p.N113N|CADM1_ENST00000537140.1_5'UTR|CADM1_ENST00000536727.1_Silent_p.N113N|CADM1_ENST00000331581.6_Silent_p.N113N	p.N113N	NM_001098517.1	NP_001091987.1	Q9BY67	CADM1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.01e-06)|Epithelial(105;0.000305)|all cancers(92;0.00303)	3	467	-	all_hematologic(175;0.0628)	all_cancers(61;2.98e-14)|all_epithelial(67;2.64e-08)|all_hematologic(158;0.000154)|Melanoma(852;0.000952)|Acute lymphoblastic leukemia(157;0.00101)|Breast(348;0.0102)|Medulloblastoma(222;0.0429)|Prostate(24;0.145)|all_neural(223;0.237)	113			Ig-like V-type.			Silent	SNP	ENST00000452722.3	37	c.339C>T	CCDS8373.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	7.429|7.429	0.638269|0.638269	0.14386|0.14386	2.27E-4|2.27E-4	0.0|0.0	ENSG00000182985|ENSG00000182985	ENST00000545380|ENST00000543249	.|.	.|.	.|.	5.38|5.38	-4.37|-4.37	0.03633|0.03633	.|.	.|.	.|.	.|.	.|.	T|T	0.64616|0.64616	0.2614|0.2614	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.63849|0.63849	-0.6544|-0.6544	4|4	.|.	.|.	.|.	.|.	15.2006|15.2006	0.73132|0.73132	0.3903:0.0:0.6097:0.0|0.3903:0.0:0.6097:0.0	.|.	.|.	.|.	.|.	C|M	112|97	.|.	.|.	R|T	-|-	1|2	0|0	CADM1|CADM1	114614515|114614515	0.071000|0.071000	0.21146|0.21146	0.895000|0.895000	0.35142|0.35142	0.965000|0.965000	0.64279|0.64279	-0.551000|-0.551000	0.06027|0.06027	-1.091000|-1.091000	0.03065|0.03065	-0.143000|-0.143000	0.13931|0.13931	CGT|ACG		0.418	CADM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000398753.2	NM_014333		27	43	0	0	0	1	0	27	43					A	115109305	G	A	115109305	2	1	435	1	0	0	0	0	0	0	0	1	2566	1136	40	1		1	CADM1	11	115109305	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	9423	115109305	19897211	5424	26349											
BUD13	84811	broad.mit.edu	37	chr11	116619253	116619253	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cctccactgccttcttgctgGcaagcctggcaaagcgcttc	6	10	9	16	1	1	0	0	0	1	0	3	0	2	0	4	2	4	4	4	2	2	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:116619253G>A	ENST00000260210.4	-	10	1828	c.1805C>T	c.(1804-1806)gCc>gTc	p.A602V	BUD13_ENST00000375445.3_Missense_Mutation_p.A468V	NM_032725.3	NP_116114.1	Q9BRD0	BUD13_HUMAN	BUD13 homolog (S. cerevisiae)	602					mRNA export from nucleus (GO:0006406)|mRNA splicing, via spliceosome (GO:0000398)	nucleus (GO:0005634)|RES complex (GO:0070274)	poly(A) RNA binding (GO:0044822)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|pancreas(2)|skin(1)|urinary_tract(1)	22	all_hematologic(175;0.0487)	all_cancers(61;1.72e-06)|all_epithelial(67;0.000735)|Melanoma(852;0.022)|Acute lymphoblastic leukemia(157;0.0255)|Medulloblastoma(222;0.0523)|Breast(348;0.056)|all_hematologic(158;0.0588)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|Epithelial(105;5.81e-06)|all cancers(92;0.000144)|OV - Ovarian serous cystadenocarcinoma(223;0.154)		CTTCTTGCTGGCAAGCCTGGC	0.478																																						ENST00000260210.4																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|pancreas(2)|skin(1)|urinary_tract(1)	22						c.(1804-1806)gCc>gTc		BUD13 homolog (S. cerevisiae)							145	120	128					11																	116619253		2201	4296	6497	SO:0001583	missense	84811							g.chr11:116619253G>A	BC006350	CCDS8374.1, CCDS53712.1	11q23.3	2012-06-07	2007-01-12		ENSG00000137656	ENSG00000137656			28199	protein-coding gene	gene with protein product	"functional spliceosome-associated protein 71"		"BUD13 homolog (yeast)"			12477932	Standard	NM_032725		Approved	MGC13125, fSAP71, Cwc26	uc001ppn.3	Q9BRD0	OTTHUMG00000045136	ENST00000260210.4:c.1805C>T	11.37:g.116619253G>A	ENSP00000260210:p.Ala602Val					BUD13_ENST00000375445.3_Missense_Mutation_p.A468V	p.A602V	NM_032725.3	NP_116114.1	Q9BRD0	BUD13_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|Epithelial(105;5.81e-06)|all cancers(92;0.000144)|OV - Ovarian serous cystadenocarcinoma(223;0.154)	10	1828	-	all_hematologic(175;0.0487)	all_cancers(61;1.72e-06)|all_epithelial(67;0.000735)|Melanoma(852;0.022)|Acute lymphoblastic leukemia(157;0.0255)|Medulloblastoma(222;0.0523)|Breast(348;0.056)|all_hematologic(158;0.0588)	602					A8K0S0|Q96LS7	Missense_Mutation	SNP	ENST00000260210.4	37	c.1805C>T	CCDS8374.1	.	.	.	.	.	.	.	.	.	.	G	35	5.571537	0.96553	.	.	ENSG00000137656	ENST00000375445;ENST00000260210	T;T	0.19250	2.16;2.16	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	T	0.48352	0.1495	M	0.69248	2.105	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.994;1.0	T	0.44298	-0.9337	10	0.87932	D	0	-14.1825	19.7653	0.96337	0.0:0.0:1.0:0.0	.	468;602	Q9BRD0-2;Q9BRD0	.;BUD13_HUMAN	V	468;602	ENSP00000364594:A468V;ENSP00000260210:A602V	ENSP00000260210:A602V	A	-	2	0	BUD13	116124463	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.373000	0.97168	2.730000	0.93505	0.563000	0.77884	GCC		0.478	BUD13-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000104864.1	NM_032725		20	35	0	0	0	1	0	20	35					A	116619253	G	A	116619253	3	1	435	1	0	0	0	0	1	0	0	0	1573	1203	42	3	58	3	BUD13	11	116619253	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	1509948	116619253	18387263	5425	26350											
ZNF259	8882	broad.mit.edu	37	chr11	116657731	116657731	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tcaaaatctagctcaggaatCcttgtggcagcagagtcagt	12	10	10	9	0	4	1	3	0	1	1	5	2	5	2	1	2	2	3	1	2	4	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:116657731C>T	ENST00000227322.3	-	3	437	c.378G>A	c.(376-378)agG>agA	p.R126R		NM_003904.3	NP_003895.1	O75312	ZPR1_HUMAN		126					apoptotic process involved in development (GO:1902742)|axon development (GO:0061564)|Cajal body organization (GO:0030576)|cell proliferation (GO:0008283)|cellular response to epidermal growth factor stimulus (GO:0071364)|DNA endoreduplication (GO:0042023)|inner cell mass cell proliferation (GO:0001833)|microtubule cytoskeleton organization (GO:0000226)|mRNA processing (GO:0006397)|negative regulation of motor neuron apoptotic process (GO:2000672)|positive regulation of gene expression (GO:0010628)|positive regulation of growth (GO:0045927)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of RNA splicing (GO:0033120)|positive regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0071931)|pre-mRNA catabolic process (GO:1990261)|regulation of myelination (GO:0031641)|RNA splicing (GO:0008380)|signal transduction (GO:0007165)|spinal cord development (GO:0021510)|trophectodermal cell proliferation (GO:0001834)	axon (GO:0030424)|Cajal body (GO:0015030)|cytoplasm (GO:0005737)|Gemini of coiled bodies (GO:0097504)|growth cone (GO:0030426)|neuronal cell body (GO:0043025)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perikaryon (GO:0043204)|SMN complex (GO:0032797)	translation initiation factor binding (GO:0031369)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)	9	all_hematologic(175;0.0487)	all_cancers(61;1.72e-06)|all_epithelial(67;0.000735)|Melanoma(852;0.022)|Acute lymphoblastic leukemia(157;0.0255)|Medulloblastoma(222;0.0523)|Breast(348;0.056)|all_hematologic(158;0.0588)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|Epithelial(105;5.61e-06)|all cancers(92;0.000139)|OV - Ovarian serous cystadenocarcinoma(223;0.153)		GCTCAGGAATCCTTGTGGCAG	0.438																																						ENST00000227322.3																			0				breast(1)|endometrium(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)	9						c.(376-378)agG>agA		zinc finger protein 259							158	159	159					11																	116657731		2201	4296	6497	SO:0001819	synonymous_variant	8882				cell proliferation|signal transduction	cytoplasm|nucleolus		g.chr11:116657731C>T																												ENST00000227322.3:c.378G>A	11.37:g.116657731C>T							p.R126R	NM_003904.3	NP_003895.1	O75312	ZPR1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|Epithelial(105;5.61e-06)|all cancers(92;0.000139)|OV - Ovarian serous cystadenocarcinoma(223;0.153)	3	437	-	all_hematologic(175;0.0487)	all_cancers(61;1.72e-06)|all_epithelial(67;0.000735)|Melanoma(852;0.022)|Acute lymphoblastic leukemia(157;0.0255)|Medulloblastoma(222;0.0523)|Breast(348;0.056)|all_hematologic(158;0.0588)	126					Q2TAA0	Silent	SNP	ENST00000227322.3	37	c.378G>A	CCDS8375.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.06|11.06	1.527557|1.527557	0.27299|0.27299	.|.	.|.	ENSG00000109917|ENSG00000109917	ENST00000429220|ENST00000444935	.|.	.|.	.|.	5.6|5.6	4.68|4.68	0.58851|0.58851	.|.	.|.	.|.	.|.	.|.	T|T	0.60196|0.60196	0.2250|0.2250	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.58194|0.58194	-0.7679|-0.7679	4|4	.|.	.|.	.|.	-8.3098|-8.3098	9.5352|9.5352	0.39218|0.39218	0.0:0.7572:0.1302:0.1126|0.0:0.7572:0.1302:0.1126	.|.	.|.	.|.	.|.	N|E	69|126	.|.	.|.	D|G	-|-	1|2	0|0	ZNF259|ZNF259	116162941|116162941	0.997000|0.997000	0.39634|0.39634	1.000000|1.000000	0.80357|0.80357	0.985000|0.985000	0.73830|0.73830	0.424000|0.424000	0.21330|0.21330	1.339000|1.339000	0.45563|0.45563	0.555000|0.555000	0.69702|0.69702	GAT|GGA		0.438	ZNF259-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106283.2			62	77	0	0	0	1	0	62	77					T	116657731	C	T	116657731	2	4	435	1	0	0	0	0	0	0	0	1	17798	854	30	3		3	ZNF259	11	116657731	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	38478	116657731	18348785	5426	26351											
APOA5	116519	broad.mit.edu	37	chr11	116661762	116661762	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttcatattgttgaggtcttgCtcaaggctgtctttcagggt	6	17	11	7	0	5	1	3	1	2	0	5	1	5	1	0	3	1	3	0	3	2	6			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:116661762C>A	ENST00000227665.4	-	3	217	c.183G>T	c.(181-183)gaG>gaT	p.E61D	ZNF259_ENST00000227322.3_5'Flank|APOA5_ENST00000542499.1_Missense_Mutation_p.E61D			Q6Q788	APOA5_HUMAN	apolipoprotein A-V	61					acylglycerol homeostasis (GO:0055090)|cellular lipid metabolic process (GO:0044255)|cholesterol homeostasis (GO:0042632)|lipid transport (GO:0006869)|lipoprotein metabolic process (GO:0042157)|organ regeneration (GO:0031100)|positive regulation of fatty acid biosynthetic process (GO:0045723)|positive regulation of lipid catabolic process (GO:0050996)|positive regulation of lipoprotein lipase activity (GO:0051006)|positive regulation of receptor-mediated endocytosis (GO:0048260)|positive regulation of triglyceride catabolic process (GO:0010898)|positive regulation of very-low-density lipoprotein particle remodeling (GO:0010902)|response to hormone (GO:0009725)|small molecule metabolic process (GO:0044281)|tissue regeneration (GO:0042246)|triglyceride catabolic process (GO:0019433)|triglyceride homeostasis (GO:0070328)|triglyceride metabolic process (GO:0006641)|triglyceride-rich lipoprotein particle remodeling (GO:0034370)	chylomicron (GO:0042627)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|high-density lipoprotein particle (GO:0034364)|very-low-density lipoprotein particle (GO:0034361)	enzyme activator activity (GO:0008047)|enzyme binding (GO:0019899)|heparin binding (GO:0008201)|lipase activator activity (GO:0060229)|lipase binding (GO:0035473)|lipid binding (GO:0008289)|lipoprotein lipase activator activity (GO:0060230)|lipoprotein particle receptor binding (GO:0070325)|low-density lipoprotein particle receptor binding (GO:0050750)|phosphatidylcholine binding (GO:0031210)|phospholipid binding (GO:0005543)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(8)|urinary_tract(1)	14	all_hematologic(175;0.0487)	all_cancers(61;3.31e-09)|all_epithelial(67;8.03e-06)|Breast(348;0.0126)|Melanoma(852;0.0153)|Acute lymphoblastic leukemia(157;0.0257)|Medulloblastoma(222;0.0425)|all_hematologic(158;0.0433)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|Epithelial(105;4.93e-06)|all cancers(92;0.000123)|OV - Ovarian serous cystadenocarcinoma(223;0.149)		TGAGGTCTTGCTCAAGGCTGT	0.587																																						ENST00000542499.1																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(8)|urinary_tract(1)	14						c.(181-183)gaG>gaT		apolipoprotein A-V							16	18	17					11																	116661762		2137	4215	6352	SO:0001583	missense	0				acylglycerol homeostasis|cholesterol homeostasis|lipid transport|lipoprotein metabolic process|positive regulation of fatty acid biosynthetic process|positive regulation of lipoprotein lipase activity|positive regulation of receptor-mediated endocytosis|positive regulation of triglyceride catabolic process|positive regulation of very-low-density lipoprotein particle remodeling|tissue regeneration|triglyceride catabolic process|triglyceride homeostasis	chylomicron|high-density lipoprotein particle|very-low-density lipoprotein particle	enzyme binding|heparin binding|lipoprotein lipase activator activity|low-density lipoprotein particle receptor binding|phosphatidylcholine binding	g.chr11:116661762C>A	AF202889	CCDS8376.2	11q23	2013-01-24			ENSG00000110243	ENSG00000110243		"Apolipoproteins"	17288	protein-coding gene	gene with protein product		606368				11588264, 11577099	Standard	NM_001166598		Approved	RAP3, APOA-V	uc009yzf.3	Q6Q788	OTTHUMG00000046116	ENST00000227665.4:c.183G>T	11.37:g.116661762C>A	ENSP00000227665:p.Glu61Asp					APOA5_ENST00000227665.4_Missense_Mutation_p.E61D	p.E61D	NM_001166598.1|NM_052968.4	NP_001160070.1|NP_443200.2	Q6Q788	APOA5_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|Epithelial(105;4.93e-06)|all cancers(92;0.000123)|OV - Ovarian serous cystadenocarcinoma(223;0.149)	4	255	-	all_hematologic(175;0.0487)	all_cancers(61;3.31e-09)|all_epithelial(67;8.03e-06)|Breast(348;0.0126)|Melanoma(852;0.0153)|Acute lymphoblastic leukemia(157;0.0257)|Medulloblastoma(222;0.0425)|all_hematologic(158;0.0433)|all_neural(223;0.234)	61					B0YIV9|Q3MIK6|Q6UWK9|Q9UBJ3	Missense_Mutation	SNP	ENST00000227665.4	37	c.183G>T	CCDS8376.2	.	.	.	.	.	.	.	.	.	.	C	16.34	3.097093	0.56075	.	.	ENSG00000110243	ENST00000227665;ENST00000542499;ENST00000433069	T;T;D	0.84873	-0.88;-0.88;-1.91	4.92	-1.0	0.10196	Apolipoprotein/apolipophorin (1);	0.107584	0.41194	D	0.000939	D	0.85647	0.5745	M	0.78223	2.4	0.27008	N	0.96476	P;P	0.51240	0.943;0.856	P;P	0.54401	0.751;0.652	T	0.77453	-0.2582	10	0.13470	T	0.59	-26.6569	8.3442	0.32263	0.0:0.3274:0.0:0.6726	.	58;61	B0YIW1;Q6Q788	.;APOA5_HUMAN	D	61	ENSP00000227665:E61D;ENSP00000445002:E61D;ENSP00000399701:E61D	ENSP00000227665:E61D	E	-	3	2	APOA5	116166972	0.654000	0.27367	0.994000	0.49952	0.990000	0.78478	-0.025000	0.12413	-0.037000	0.13646	0.650000	0.86243	GAG		0.587	APOA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106285.2			9	10	1	0	0.000274275	1	0.000279654	9	10					A	116661762	C	A	116661762	3	1	435	1	0	0	0	0	1	0	0	0	784	796	28	5	921	5	APOA5	11	116661762	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	4031	116661762	18344754	5427	26352											
APOA4	337	broad.mit.edu	37	chr11	116692112	116692112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gagcatagggagccaggctgCggcgcagctcctccacggtc	7	5	15	14	3	0	0	0	0	0	0	3	2	2	1	3	4	4	4	3	4	1	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:116692112C>T	ENST00000357780.3	-	3	776	c.662G>A	c.(661-663)cGc>cAc	p.R221H		NM_000482.3	NP_000473.2	P06727	APOA4_HUMAN	apolipoprotein A-IV	221	13 X 22 AA approximate tandem repeats.				cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|chylomicron assembly (GO:0034378)|chylomicron remodeling (GO:0034371)|high-density lipoprotein particle remodeling (GO:0034375)|hydrogen peroxide catabolic process (GO:0042744)|innate immune response in mucosa (GO:0002227)|leukocyte cell-cell adhesion (GO:0007159)|lipid homeostasis (GO:0055088)|lipid transport (GO:0006869)|lipoprotein metabolic process (GO:0042157)|multicellular organismal lipid catabolic process (GO:0044240)|negative regulation of plasma lipoprotein particle oxidation (GO:0034445)|phosphatidylcholine metabolic process (GO:0046470)|phospholipid efflux (GO:0033700)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol esterification (GO:0010873)|positive regulation of fatty acid biosynthetic process (GO:0045723)|positive regulation of lipoprotein lipase activity (GO:0051006)|positive regulation of triglyceride catabolic process (GO:0010898)|protein-lipid complex assembly (GO:0065005)|regulation of cholesterol transport (GO:0032374)|regulation of intestinal cholesterol absorption (GO:0030300)|removal of superoxide radicals (GO:0019430)|response to lipid hydroperoxide (GO:0006982)|response to stilbenoid (GO:0035634)|retinoid metabolic process (GO:0001523)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)|very-low-density lipoprotein particle remodeling (GO:0034372)	blood microparticle (GO:0072562)|chylomicron (GO:0042627)|cytosol (GO:0005829)|early endosome (GO:0005769)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|high-density lipoprotein particle (GO:0034364)|very-low-density lipoprotein particle (GO:0034361)	antioxidant activity (GO:0016209)|cholesterol transporter activity (GO:0017127)|copper ion binding (GO:0005507)|lipid binding (GO:0008289)|lipid transporter activity (GO:0005319)|phosphatidylcholine binding (GO:0031210)|phosphatidylcholine-sterol O-acyltransferase activator activity (GO:0060228)|protein homodimerization activity (GO:0042803)			cervix(1)|endometrium(2)|lung(10)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	20	all_hematologic(175;0.0487)	Breast(348;0.0126)|Medulloblastoma(222;0.0425)|all_hematologic(158;0.0564)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|Epithelial(105;1.62e-05)|all cancers(92;0.000165)|OV - Ovarian serous cystadenocarcinoma(223;0.148)		AGCCAGGCTGCGGCGCAGCTC	0.592																																						ENST00000357780.3																			0				cervix(1)|endometrium(2)|lung(10)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	20						c.(661-663)cGc>cAc		apolipoprotein A-IV							148	147	148					11																	116692112		2201	4292	6493	SO:0001583	missense	337							g.chr11:116692112C>T		CCDS31681.1	11q23.3	2013-01-24			ENSG00000110244	ENSG00000110244		"Apolipoproteins"	602	protein-coding gene	gene with protein product		107690					Standard	NM_000482		Approved		uc001pps.1	P06727	OTTHUMG00000046110	ENST00000357780.3:c.662G>A	11.37:g.116692112C>T	ENSP00000350425:p.Arg221His						p.R221H	NM_000482.3	NP_000473.2				BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|Epithelial(105;1.62e-05)|all cancers(92;0.000165)|OV - Ovarian serous cystadenocarcinoma(223;0.148)	3	776	-	all_hematologic(175;0.0487)	Breast(348;0.0126)|Medulloblastoma(222;0.0425)|all_hematologic(158;0.0564)|all_neural(223;0.234)						A8MSL6|Q14CW8|Q6Q787	Missense_Mutation	SNP	ENST00000357780.3	37	c.662G>A	CCDS31681.1	.	.	.	.	.	.	.	.	.	.	C	18.91	3.723411	0.68959	.	.	ENSG00000110244	ENST00000357780	T	0.74526	-0.85	4.96	-1.15	0.09709	Apolipoprotein/apolipophorin (1);	1.271250	0.05363	N	0.533963	D	0.82733	0.5101	M	0.85373	2.75	0.09310	N	1	D	0.65815	0.995	P	0.61201	0.885	T	0.65631	-0.6121	10	0.62326	D	0.03	-8.2759	2.088	0.03650	0.1264:0.3103:0.1251:0.4382	.	221	P06727	APOA4_HUMAN	H	221	ENSP00000350425:R221H	ENSP00000350425:R221H	R	-	2	0	APOA4	116197322	0.000000	0.05858	0.984000	0.44739	0.994000	0.84299	-0.665000	0.05286	-0.095000	0.12351	0.563000	0.77884	CGC		0.592	APOA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106279.2	NM_000482		61	93	0	0	0	1	0	61	93					T	116692112	C	T	116692112	3	4	435	1	0	0	0	0	1	0	0	0	783	768	27	1	532	1	APOA4	11	116692112	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	30350	116692112	18314404	5428	26353											
PAFAH1B2	5049	broad.mit.edu	37	chr11	117030703	117030703	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gagcctgatgtactgttcgtGggagactccatggtgcagtt	7	12	14	8	1	0	2	0	1	0	1	2	4	1	2	2	2	3	4	2	2	1	3	rs200897891		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:117030703G>T	ENST00000527958.1	+	3	294	c.135G>T	c.(133-135)gtG>gtT	p.V45V	PAFAH1B2_ENST00000529887.2_Silent_p.V45V|PAFAH1B2_ENST00000530272.1_Silent_p.V45V|PAFAH1B2_ENST00000526888.1_Intron|PAFAH1B2_ENST00000419197.2_Silent_p.V45V	NM_002572.3	NP_002563.1	P68402	PA1B2_HUMAN	platelet-activating factor acetylhydrolase 1b, catalytic subunit 2 (30kDa)	45					brain development (GO:0007420)|lipid catabolic process (GO:0016042)|lipid metabolic process (GO:0006629)|positive regulation of macroautophagy (GO:0016239)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	1-alkyl-2-acetylglycerophosphocholine esterase activity (GO:0003847)			kidney(1)	1	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0523)|Breast(348;0.056)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;1.68e-05)|Epithelial(105;0.000162)|all cancers(92;0.00111)		TACTGTTCGTGGGAGACTCCA	0.403			T	IGH@	MLCLS																																	ENST00000527958.1				Dom	yes		11	11q23	5049	T	"platelet-activating factor acetylhydrolase, isoform Ib, beta subunit 30kDa"			L	IGH@		MLCLS		0				kidney(1)	1						c.(133-135)gtG>gtT		platelet-activating factor acetylhydrolase 1b, catalytic subunit 2 (30kDa)							240	225	230					11																	117030703		2201	4296	6497	SO:0001819	synonymous_variant	5049				lipid catabolic process	cytoplasm	1-alkyl-2-acetylglycerophosphocholine esterase activity	g.chr11:117030703G>T	D63390	CCDS8380.1, CCDS53713.1, CCDS53714.1, CCDS53715.1	11q23	2011-10-24	2010-02-10			ENSG00000168092			8575	protein-coding gene	gene with protein product	"PAF-AH1b alpha 2 subunit"	602508	"platelet-activating factor acetylhydrolase, isoform Ib, beta subunit 30kDa", "platelet-activating factor acetylhydrolase, isoform Ib, subunit 2 (30kDa)"			9144386, 9693049	Standard	NM_002572		Approved		uc001pqe.2	P68402		ENST00000527958.1:c.135G>T	11.37:g.117030703G>T						PAFAH1B2_ENST00000419197.2_Silent_p.V45V|PAFAH1B2_ENST00000526888.1_Intron|PAFAH1B2_ENST00000530272.1_Silent_p.V45V|PAFAH1B2_ENST00000529887.2_Silent_p.V45V	p.V45V	NM_002572.3	NP_002563.1	P68402	PA1B2_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.68e-05)|Epithelial(105;0.000162)|all cancers(92;0.00111)	3	294	+	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0523)|Breast(348;0.056)|all_hematologic(192;0.232)	45					A8DPS5|A8DPS6|A8DPS7|E9PEJ5|E9PLP3|O00687|Q29459|Q6IBR6	Silent	SNP	ENST00000527958.1	37	c.135G>T	CCDS8380.1																																																																																				0.403	PAFAH1B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392826.1	NM_002572		28	88	1	0	2.85442e-18	1	3.14927e-18	28	88					T	117030703	G	T	117030703	2	4	435	1	0	0	0	0	0	0	0	1	11385	1335	47	5		5	PAFAH1B2	11	117030703	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	338591	117030703	17975813	5429	26354											
SIDT2	51092	broad.mit.edu	37	chr11	117052666	117052666	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ataccagctccgggtcagccGcatggacgattttgtgctca	8	10	11	12	3	2	0	2	0	0	0	3	2	3	1	3	2	4	3	3	2	1	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:117052666G>A	ENST00000324225.4	+	3	980	c.449G>A	c.(448-450)cGc>cAc	p.R150H	SIDT2_ENST00000431081.2_Missense_Mutation_p.R150H|SIDT2_ENST00000530948.1_3'UTR	NM_001040455.1	NP_001035545.1	Q8NBJ9	SIDT2_HUMAN	SID1 transmembrane family, member 2	150					cell morphogenesis (GO:0000902)|dsRNA transport (GO:0033227)|glucose homeostasis (GO:0042593)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|response to glucose (GO:0009749)|type B pancreatic cell development (GO:0003323)|type B pancreatic cell proliferation (GO:0044342)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	RNA transmembrane transporter activity (GO:0051033)	p.R150H(1)		NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	36	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.69e-05)|Epithelial(105;0.000219)|all cancers(92;0.00144)		CGGGTCAGCCGCATGGACGAT	0.597																																						ENST00000324225.4																			1	Substitution - Missense(1)	p.R150H(1)	lung(1)	NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	36						c.(448-450)cGc>cAc		SID1 transmembrane family, member 2							64	59	61					11																	117052666		2201	4296	6497	SO:0001583	missense	51092					integral to membrane|lysosomal membrane		g.chr11:117052666G>A	AF151799	CCDS31682.1	11q23.3	2008-02-05			ENSG00000149577	ENSG00000149577			24272	protein-coding gene	gene with protein product						10810093, 12975309	Standard	NM_001040455		Approved	CGI-40	uc001pqh.1	Q8NBJ9	OTTHUMG00000167065	ENST00000324225.4:c.449G>A	11.37:g.117052666G>A	ENSP00000314023:p.Arg150His					SIDT2_ENST00000431081.2_Missense_Mutation_p.R150H|SIDT2_ENST00000530948.1_3'UTR	p.R150H	NM_001040455.1	NP_001035545.1	Q8NBJ9	SIDT2_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.69e-05)|Epithelial(105;0.000219)|all cancers(92;0.00144)	3	980	+	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)	150					Q8NBY7|Q9Y357	Missense_Mutation	SNP	ENST00000324225.4	37	c.449G>A	CCDS31682.1	.	.	.	.	.	.	.	.	.	.	G	17.12	3.308160	0.60305	.	.	ENSG00000149577	ENST00000324225;ENST00000278951;ENST00000431081;ENST00000531353	T;T;T	0.18960	2.2;2.18;2.19	5.14	5.14	0.70334	.	0.062208	0.64402	D	0.000004	T	0.15219	0.0367	L	0.31926	0.97	0.47862	D	0.999538	B;B;B;B	0.28258	0.205;0.054;0.13;0.13	B;B;B;B	0.29663	0.105;0.017;0.032;0.049	T	0.05115	-1.0905	10	0.10111	T	0.7	-14.2607	12.1632	0.54115	0.0778:0.0:0.9222:0.0	.	150;150;150;150	Q8NBJ9-2;F5H8L4;Q8NBJ9;C9JBG5	.;.;SIDT2_HUMAN;.	H	150;150;150;49	ENSP00000314023:R150H;ENSP00000278951:R150H;ENSP00000399635:R150H	ENSP00000278951:R150H	R	+	2	0	SIDT2	116557876	1.000000	0.71417	0.992000	0.48379	0.993000	0.82548	5.760000	0.68793	2.676000	0.91093	0.561000	0.74099	CGC		0.597	SIDT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392836.1	NM_015996		10	8	0	0	0	1	0	10	8					A	117052666	G	A	117052666	3	1	435	1	0	0	0	0	1	0	0	0	14303	1087	38	1	459	1	SIDT2	11	117052666	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	21963	117052666	17953850	5430	26355											
SIDT2	51092	broad.mit.edu	37	chr11	117062993	117062993	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tttggcaaagggaacacggcGttctggatcgtcttctccat	8	12	11	10	3	3	0	0	0	3	0	5	2	3	2	1	4	1	2	1	4	2	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:117062993G>A	ENST00000324225.4	+	20	2427	c.1896G>A	c.(1894-1896)gcG>gcA	p.A632A	SIDT2_ENST00000532062.1_5'Flank|SIDT2_ENST00000431081.2_Silent_p.A629A	NM_001040455.1	NP_001035545.1	Q8NBJ9	SIDT2_HUMAN	SID1 transmembrane family, member 2	632					cell morphogenesis (GO:0000902)|dsRNA transport (GO:0033227)|glucose homeostasis (GO:0042593)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|response to glucose (GO:0009749)|type B pancreatic cell development (GO:0003323)|type B pancreatic cell proliferation (GO:0044342)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	RNA transmembrane transporter activity (GO:0051033)			NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	36	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.69e-05)|Epithelial(105;0.000219)|all cancers(92;0.00144)		GGAACACGGCGTTCTGGATCG	0.622																																						ENST00000324225.4																			0				NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	36						c.(1894-1896)gcG>gcA		SID1 transmembrane family, member 2							119	100	106					11																	117062993		2201	4296	6497	SO:0001819	synonymous_variant	51092					integral to membrane|lysosomal membrane		g.chr11:117062993G>A	AF151799	CCDS31682.1	11q23.3	2008-02-05			ENSG00000149577	ENSG00000149577			24272	protein-coding gene	gene with protein product						10810093, 12975309	Standard	NM_001040455		Approved	CGI-40	uc001pqh.1	Q8NBJ9	OTTHUMG00000167065	ENST00000324225.4:c.1896G>A	11.37:g.117062993G>A						SIDT2_ENST00000431081.2_Silent_p.A629A	p.A632A	NM_001040455.1	NP_001035545.1	Q8NBJ9	SIDT2_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.69e-05)|Epithelial(105;0.000219)|all cancers(92;0.00144)	20	2427	+	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)	632					Q8NBY7|Q9Y357	Silent	SNP	ENST00000324225.4	37	c.1896G>A	CCDS31682.1																																																																																				0.622	SIDT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392836.1	NM_015996		24	29	0	0	0	1	0	24	29					A	117062993	G	A	117062993	2	1	435	1	0	0	0	0	0	0	0	1	14303	1132	40	1		1	SIDT2	11	117062993	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	10327	117062993	17943523	5431	26356											
SIDT2	51092	broad.mit.edu	37	chr11	117063906	117063906	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcatgcgccccaatgatttcGcttcctacttgttggccatt	6	15	7	13	2	1	1	1	1	0	0	3	1	2	1	4	1	2	2	4	1	2	6	rs138225019		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:117063906G>A	ENST00000324225.4	+	23	2674	c.2143G>A	c.(2143-2145)Gct>Act	p.A715T	SIDT2_ENST00000532062.1_Missense_Mutation_p.A7T|SIDT2_ENST00000431081.2_Missense_Mutation_p.A712T	NM_001040455.1	NP_001035545.1	Q8NBJ9	SIDT2_HUMAN	SID1 transmembrane family, member 2	715					cell morphogenesis (GO:0000902)|dsRNA transport (GO:0033227)|glucose homeostasis (GO:0042593)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|response to glucose (GO:0009749)|type B pancreatic cell development (GO:0003323)|type B pancreatic cell proliferation (GO:0044342)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	RNA transmembrane transporter activity (GO:0051033)			NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	36	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.69e-05)|Epithelial(105;0.000219)|all cancers(92;0.00144)		CAATGATTTCGCTTCCTACTT	0.557																																						ENST00000324225.4																			0				NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	36						c.(2143-2145)Gct>Act		SID1 transmembrane family, member 2							429	406	413					11																	117063906		2201	4296	6497	SO:0001583	missense	51092					integral to membrane|lysosomal membrane		g.chr11:117063906G>A	AF151799	CCDS31682.1	11q23.3	2008-02-05			ENSG00000149577	ENSG00000149577			24272	protein-coding gene	gene with protein product						10810093, 12975309	Standard	NM_001040455		Approved	CGI-40	uc001pqh.1	Q8NBJ9	OTTHUMG00000167065	ENST00000324225.4:c.2143G>A	11.37:g.117063906G>A	ENSP00000314023:p.Ala715Thr					SIDT2_ENST00000431081.2_Missense_Mutation_p.A712T|SIDT2_ENST00000532062.1_Missense_Mutation_p.A7T	p.A715T	NM_001040455.1	NP_001035545.1	Q8NBJ9	SIDT2_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.69e-05)|Epithelial(105;0.000219)|all cancers(92;0.00144)	23	2674	+	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)	715					Q8NBY7|Q9Y357	Missense_Mutation	SNP	ENST00000324225.4	37	c.2143G>A	CCDS31682.1	.	.	.	.	.	.	.	.	.	.	G	36	5.825438	0.96996	.	.	ENSG00000149577	ENST00000324225;ENST00000278951;ENST00000431081;ENST00000392956;ENST00000525478;ENST00000532062	T;T;T;T;T	0.25085	1.82;1.82;1.82;1.82;1.82	5.44	5.44	0.79542	.	0.000000	0.85682	D	0.000000	T	0.55114	0.1900	M	0.79805	2.47	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.995;0.998;0.993;0.997	T	0.51244	-0.8730	10	0.38643	T	0.18	-29.9616	19.0513	0.93046	0.0:0.0:1.0:0.0	.	736;712;715;736	Q8NBJ9-2;F5H8L4;Q8NBJ9;C9JBG5	.;.;SIDT2_HUMAN;.	T	715;736;712;69;53;7	ENSP00000314023:A715T;ENSP00000278951:A736T;ENSP00000399635:A712T;ENSP00000435890:A53T;ENSP00000432432:A7T	ENSP00000278951:A736T	A	+	1	0	SIDT2	116569116	1.000000	0.71417	0.996000	0.52242	0.981000	0.71138	7.771000	0.85420	2.828000	0.97474	0.655000	0.94253	GCT		0.557	SIDT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392836.1	NM_015996		7	396	0	0	0	1	0	7	396					A	117063906	G	A	117063906	3	1	435	1	0	0	0	0	1	0	0	0	14303	1087	38	1	2233	1	SIDT2	11	117063906	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	913	117063906	17942610	5432	26357											
RNF214	257160	broad.mit.edu	37	chr11	117152859	117152859	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtccacacatgccccctgccGcctccatcccacctccccca	6	6	4	25	1	0	0	0	0	0	0	4	0	4	0	10	0	2	0	10	0	0	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:117152859G>A	ENST00000531452.1	+	11	1631	c.1585G>A	c.(1585-1587)Gcc>Acc	p.A529T	RNF214_ENST00000530849.1_Missense_Mutation_p.A374T|RNF214_ENST00000524917.1_Intron|RNF214_ENST00000300650.4_Missense_Mutation_p.A529T|RNF214_ENST00000531287.1_Missense_Mutation_p.A374T	NM_001077239.1|NM_001278249.1	NP_001070707.1|NP_001265178.1	Q8ND24	RN214_HUMAN	ring finger protein 214	529	Pro-rich.						zinc ion binding (GO:0008270)			cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	23	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.88e-05)|Epithelial(105;0.000397)|all cancers(92;0.00258)		GCCCCCTGCCGCCTCCATCCC	0.627																																						ENST00000530849.1																			0				cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	23						c.(1120-1122)Gcc>Acc		ring finger protein 214							87	94	92					11																	117152859		1900	4107	6007	SO:0001583	missense	257160						zinc ion binding	g.chr11:117152859G>A	AL834448	CCDS41720.1, CCDS60976.1	11q23.3	2014-02-12	2007-02-16		ENSG00000167257	ENSG00000167257		"RING-type (C3HC4) zinc fingers"	25335	protein-coding gene	gene with protein product							Standard	NM_001077239		Approved	DKFZp547C195	uc001pqt.4	Q8ND24	OTTHUMG00000167069	ENST00000531452.1:c.1585G>A	11.37:g.117152859G>A	ENSP00000431643:p.Ala529Thr					RNF214_ENST00000524917.1_Intron|RNF214_ENST00000531452.1_Missense_Mutation_p.A529T|RNF214_ENST00000300650.4_Missense_Mutation_p.A529T|RNF214_ENST00000531287.1_Missense_Mutation_p.A374T	p.A374T			Q8ND24	RN214_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.88e-05)|Epithelial(105;0.000397)|all cancers(92;0.00258)	10	1130	+	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)	529					B2RUW0|B4DTD1	Missense_Mutation	SNP	ENST00000531452.1	37	c.1120G>A	CCDS41720.1	.	.	.	.	.	.	.	.	.	.	G	13.95	2.389720	0.42410	.	.	ENSG00000167257	ENST00000531287;ENST00000531452;ENST00000530849;ENST00000300650;ENST00000534709	T;T;T;T	0.36878	2.56;1.23;2.56;1.23	5.39	2.25	0.28309	.	0.354627	0.28803	N	0.014091	T	0.28267	0.0698	L	0.51422	1.61	0.41322	D	0.987188	B;B	0.13145	0.007;0.003	B;B	0.06405	0.002;0.002	T	0.12553	-1.0543	10	0.40728	T	0.16	-1.3361	7.2013	0.25883	0.1512:0.0:0.7119:0.1368	.	374;529	B4DTD1;Q8ND24	.;RN214_HUMAN	T	374;529;374;529;81	ENSP00000435361:A374T;ENSP00000431643:A529T;ENSP00000432903:A374T;ENSP00000300650:A529T	ENSP00000300650:A529T	A	+	1	0	RNF214	116658069	0.994000	0.37717	0.985000	0.45067	0.995000	0.86356	2.249000	0.43169	1.268000	0.44264	0.561000	0.74099	GCC		0.627	RNF214-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392884.1	NM_001077239		39	47	0	0	0	1	0	39	47					A	117152859	G	A	117152859	3	1	435	1	0	0	0	0	1	0	0	0	13478	1087	38	1	1623	1	RNF214	11	117152859	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	88953	117152859	17853657	5433	26358											
CEP164	22897	broad.mit.edu	37	chr11	117282877	117282877	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caacagagtgaaggtgtatcGcttctgaggccctgagcagg	10	8	14	9	1	1	4	0	3	1	1	2	4	1	4	1	3	2	3	1	3	3	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:117282877G>A	ENST00000278935.3	+	33	4523	c.4376G>A	c.(4375-4377)cGc>cAc	p.R1459H	CEP164_ENST00000533706.1_3'UTR	NM_001271933.1|NM_014956.4	NP_001258862.1|NP_055771.4	Q9UPV0	CE164_HUMAN	centrosomal protein 164kDa	1459					cilium assembly (GO:0042384)|DNA repair (GO:0006281)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary transition fiber (GO:0097539)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|nucleus (GO:0005634)				breast(3)|central_nervous_system(1)|kidney(7)|large_intestine(12)|lung(18)|ovary(3)|prostate(3)	47	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;4e-05)|Epithelial(105;0.0008)		AAGGTGTATCGCTTCTGAGGC	0.582																																						ENST00000278935.3																			0				breast(3)|central_nervous_system(1)|kidney(7)|large_intestine(12)|lung(18)|ovary(3)|prostate(3)	47						c.(4375-4377)cGc>cAc		centrosomal protein 164kDa							64	57	59					11																	117282877		2201	4296	6497	SO:0001583	missense	22897				cell division|DNA repair|G2/M transition of mitotic cell cycle|mitosis	centriole|cytosol|nucleus		g.chr11:117282877G>A	AB028975	CCDS31683.1	11q23.3	2014-02-20			ENSG00000110274	ENSG00000110274			29182	protein-coding gene	gene with protein product		614848				10470851, 14654843	Standard	NM_014956		Approved	KIAA1052, NPHP15	uc001prc.3	Q9UPV0	OTTHUMG00000167070	ENST00000278935.3:c.4376G>A	11.37:g.117282877G>A	ENSP00000278935:p.Arg1459His					CEP164_ENST00000533706.1_3'UTR	p.R1459H	NM_014956.4	NP_055771.4	Q9UPV0	CE164_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4e-05)|Epithelial(105;0.0008)	33	4523	+	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)	1459					Q6PKH9|Q7Z2X9|Q9NVS0|Q9UFJ6	Missense_Mutation	SNP	ENST00000278935.3	37	c.4376G>A	CCDS31683.1	.	.	.	.	.	.	.	.	.	.	G	3.844	-0.033285	0.07543	.	.	ENSG00000110274	ENST00000278935	T	0.57107	0.42	5.24	-5.71	0.02413	.	0.482216	0.19459	N	0.113745	T	0.25306	0.0615	N	0.04746	-0.17	0.09310	N	1	B;B	0.10296	0.003;0.003	B;B	0.08055	0.003;0.003	T	0.09530	-1.0670	10	0.16420	T	0.52	0.0468	15.5784	0.76410	0.3773:0.0:0.6227:0.0	.	1459;1454	Q9UPV0;Q9UPV0-2	CE164_HUMAN;.	H	1459	ENSP00000278935:R1459H	ENSP00000278935:R1459H	R	+	2	0	CEP164	116788087	0.123000	0.22298	0.000000	0.03702	0.005000	0.04900	-0.021000	0.12504	-1.576000	0.01652	-0.345000	0.07892	CGC		0.582	CEP164-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392893.1	NM_014956		5	34	0	0	0	1	0	5	34					A	117282877	G	A	117282877	3	1	435	1	0	0	0	0	1	0	0	0	3249	1087	38	1	4498	1	CEP164	11	117282877	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	130018	117282877	17723639	5434	26359											
DSCAML1	57453	broad.mit.edu	37	chr11	117374666	117374666	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aggacgtggcggatcagcagCgagctgttgggcaggatctg	8	7	18	8	3	2	0	1	0	1	0	2	4	2	3	0	5	3	4	0	5	0	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:117374666C>T	ENST00000321322.6	-	11	2434	c.2433G>A	c.(2431-2433)tcG>tcA	p.S811S	DSCAML1_ENST00000527706.1_Silent_p.S541S	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	751	Ig-like C2-type 9.				axonogenesis (GO:0007409)|brain development (GO:0007420)|cell fate determination (GO:0001709)|central nervous system development (GO:0007417)|dendrite self-avoidance (GO:0070593)|dorsal/ventral pattern formation (GO:0009953)|embryonic skeletal system morphogenesis (GO:0048704)|homophilic cell adhesion (GO:0007156)|negative regulation of cell adhesion (GO:0007162)	cell surface (GO:0009986)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		GGATCAGCAGCGAGCTGTTGG	0.622																																						ENST00000321322.6																			0				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110						c.(2431-2433)tcG>tcA		Down syndrome cell adhesion molecule like 1							109	93	98					11																	117374666		2201	4296	6497	SO:0001819	synonymous_variant	57453				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity	g.chr11:117374666C>T		CCDS8384.1	11q22.2-q22.3	2013-02-11			ENSG00000177103	ENSG00000177103		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	14656	protein-coding gene	gene with protein product		611782				11453658	Standard	NM_020693		Approved	KIAA1132	uc001prh.1	Q8TD84	OTTHUMG00000167071	ENST00000321322.6:c.2433G>A	11.37:g.117374666C>T						DSCAML1_ENST00000527706.1_Silent_p.S541S	p.S811S	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)	11	2434	-	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)	751			Ig-like C2-type 9.		Q76MU9|Q8IZY3|Q8IZY4|Q8WXU7|Q9ULT7	Silent	SNP	ENST00000321322.6	37	c.2433G>A	CCDS8384.1																																																																																				0.622	DSCAML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392907.2	NM_020693		23	24	0	0	0	1	0	23	24					T	117374666	C	T	117374666	2	4	435	1	0	0	0	0	0	0	0	1	4769	755	27	1		1	DSCAML1	11	117374666	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	91789	117374666	17631850	5435	26360											
MLL	4297	broad.mit.edu	37	chr11	118366536	118366536	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	taatgaagaaaatcattccaGctcccaaacccaaaggtcct	16	8	5	12	0	1	2	1	1	0	1	4	2	4	2	4	1	2	1	4	1	6	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:118366536G>T	ENST00000389506.5	+	19	5476	c.5476G>T	c.(5476-5478)Gct>Tct	p.A1826S	KMT2A_ENST00000354520.4_Missense_Mutation_p.A1788S|KMT2A_ENST00000534358.1_Missense_Mutation_p.A1829S			Q03164	KMT2A_HUMAN	lysine (K)-specific methyltransferase 2A	1826					anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|DNA methylation (GO:0006306)|embryonic hemopoiesis (GO:0035162)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|histone H4-K16 acetylation (GO:0043984)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cellular response to drug (GO:2001040)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transporter activity (GO:0032411)|protein complex assembly (GO:0006461)|regulation of histone H3-K4 methylation (GO:0051569)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|histone methyltransferase complex (GO:0035097)|MLL1 complex (GO:0071339)|nucleus (GO:0005634)	AT DNA binding (GO:0003680)|chromatin binding (GO:0003682)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|identical protein binding (GO:0042802)|lysine-acetylated histone binding (GO:0070577)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|unmethylated CpG binding (GO:0045322)|zinc ion binding (GO:0008270)										AATCATTCCAGCTCCCAAACC	0.493																																						ENST00000534358.1																			0											c.(5485-5487)Gct>Tct		lysine (K)-specific methyltransferase 2A							161	170	167					11																	118366536		2200	4296	6496	SO:0001583	missense	4297							g.chr11:118366536G>T	L04284	CCDS31686.1, CCDS55791.1	11q23	2014-09-17	2013-05-09	2013-05-09	ENSG00000118058	ENSG00000118058		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	7132	protein-coding gene	gene with protein product		159555	"myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog)", "myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila)"	MLL		1720549	Standard	NM_001197104		Approved	TRX1, HRX, ALL-1, HTRX1, CXXC7, MLL1A		Q03164	OTTHUMG00000166337	ENST00000389506.5:c.5476G>T	11.37:g.118366536G>T	ENSP00000374157:p.Ala1826Ser					KMT2A_ENST00000389506.5_Missense_Mutation_p.A1826S|KMT2A_ENST00000354520.4_Missense_Mutation_p.A1788S	p.A1829S	NM_001197104.1|NM_005933.3	NP_001184033.1|NP_005924.2					19	5508	+								E9PQG7|Q13743|Q13744|Q14845|Q16364|Q59FF2|Q6UBD1|Q9HBJ3|Q9UD94|Q9UMA3	Missense_Mutation	SNP	ENST00000389506.5	37	c.5485G>T	CCDS31686.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.204950	0.79127	.	.	ENSG00000118058	ENST00000534358;ENST00000389506;ENST00000354520;ENST00000359313	D;D;D	0.83673	-1.74;-1.75;-1.66	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	D	0.88691	0.6505	L	0.44542	1.39	0.80722	D	1	D;D	0.76494	0.965;0.999	P;D	0.78314	0.885;0.991	D	0.88632	0.3170	10	0.59425	D	0.04	.	19.7971	0.96490	0.0:0.0:1.0:0.0	.	1829;1826	E9PQG7;Q03164	.;MLL1_HUMAN	S	1829;1826;1788;736	ENSP00000436786:A1829S;ENSP00000374157:A1826S;ENSP00000346516:A1788S	ENSP00000346516:A1788S	A	+	1	0	MLL	117871746	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.669000	0.98622	2.762000	0.94881	0.484000	0.47621	GCT		0.493	KMT2A-015	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399085.2	NM_005933		55	67	1	0	7.05995e-25	1	7.87918e-25	55	67					T	118366536	G	T	118366536	3	4	435	1	0	0	0	0	1	0	0	0	9620	971	34	5	5550	5	MLL	11	118366536	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	991870	118366536	16639980	5436	26361											
MLL	4297	broad.mit.edu	37	chr11	118368689	118368689	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tatattggccaaaatgagtgGacacatgtaaattgtgcttt	13	14	9	5	0	0	1	0	1	0	0	0	2	0	2	1	2	1	2	1	2	6	6			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:118368689G>A	ENST00000389506.5	+	21	5694	c.5694G>A	c.(5692-5694)tgG>tgA	p.W1898*	KMT2A_ENST00000354520.4_Nonsense_Mutation_p.W1860*|KMT2A_ENST00000534358.1_Nonsense_Mutation_p.W1901*			Q03164	KMT2A_HUMAN	lysine (K)-specific methyltransferase 2A	1898					anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|DNA methylation (GO:0006306)|embryonic hemopoiesis (GO:0035162)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|histone H4-K16 acetylation (GO:0043984)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cellular response to drug (GO:2001040)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transporter activity (GO:0032411)|protein complex assembly (GO:0006461)|regulation of histone H3-K4 methylation (GO:0051569)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|histone methyltransferase complex (GO:0035097)|MLL1 complex (GO:0071339)|nucleus (GO:0005634)	AT DNA binding (GO:0003680)|chromatin binding (GO:0003682)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|identical protein binding (GO:0042802)|lysine-acetylated histone binding (GO:0070577)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|unmethylated CpG binding (GO:0045322)|zinc ion binding (GO:0008270)										AAAATGAGTGGACACATGTAA	0.403																																						ENST00000534358.1																			0											c.(5701-5703)tgG>tgA		lysine (K)-specific methyltransferase 2A							164	154	157					11																	118368689		2200	4296	6496	SO:0001587	stop_gained	4297							g.chr11:118368689G>A	L04284	CCDS31686.1, CCDS55791.1	11q23	2014-09-17	2013-05-09	2013-05-09	ENSG00000118058	ENSG00000118058		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	7132	protein-coding gene	gene with protein product		159555	"myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog)", "myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila)"	MLL		1720549	Standard	NM_001197104		Approved	TRX1, HRX, ALL-1, HTRX1, CXXC7, MLL1A		Q03164	OTTHUMG00000166337	ENST00000389506.5:c.5694G>A	11.37:g.118368689G>A	ENSP00000374157:p.Trp1898*					KMT2A_ENST00000389506.5_Nonsense_Mutation_p.W1898*|KMT2A_ENST00000354520.4_Nonsense_Mutation_p.W1860*	p.W1901*	NM_001197104.1|NM_005933.3	NP_001184033.1|NP_005924.2					21	5726	+								E9PQG7|Q13743|Q13744|Q14845|Q16364|Q59FF2|Q6UBD1|Q9HBJ3|Q9UD94|Q9UMA3	Nonsense_Mutation	SNP	ENST00000389506.5	37	c.5703G>A	CCDS31686.1	.	.	.	.	.	.	.	.	.	.	G	46	12.150608	0.99640	.	.	ENSG00000118058	ENST00000534358;ENST00000389506;ENST00000354520;ENST00000359313	.	.	.	5.17	5.17	0.71159	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	17.2111	0.86930	0.0:0.0:1.0:0.0	.	.	.	.	X	1901;1898;1860;808	.	ENSP00000346516:W1860X	W	+	3	0	MLL	117873899	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.809000	0.99208	2.547000	0.85894	0.655000	0.94253	TGG		0.403	KMT2A-015	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399085.2	NM_005933		14	109	0	0	0	1	0	14	109					A	118368689	G	A	118368689	4	1	435	1	0	0	0	0	0	1	0	0	9620	1183	41	3	5776	3	MLL	11	118368689	Nonsense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	2153	118368689	16637827	5437	26362											
MLL	4297	broad.mit.edu	37	chr11	118376991	118376991	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcagcatgtgaaccagctcCttgccagcaaaactgggatt	11	10	9	11	0	1	1	1	1	0	0	2	2	2	2	3	1	6	3	3	1	3	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:118376991C>T	ENST00000389506.5	+	27	10375	c.10375C>T	c.(10375-10377)Ctt>Ttt	p.L3459F	KMT2A_ENST00000354520.4_Missense_Mutation_p.L3421F|KMT2A_ENST00000534358.1_Missense_Mutation_p.L3462F			Q03164	KMT2A_HUMAN	lysine (K)-specific methyltransferase 2A	3459					anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|DNA methylation (GO:0006306)|embryonic hemopoiesis (GO:0035162)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|histone H4-K16 acetylation (GO:0043984)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cellular response to drug (GO:2001040)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transporter activity (GO:0032411)|protein complex assembly (GO:0006461)|regulation of histone H3-K4 methylation (GO:0051569)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|histone methyltransferase complex (GO:0035097)|MLL1 complex (GO:0071339)|nucleus (GO:0005634)	AT DNA binding (GO:0003680)|chromatin binding (GO:0003682)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|identical protein binding (GO:0042802)|lysine-acetylated histone binding (GO:0070577)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|unmethylated CpG binding (GO:0045322)|zinc ion binding (GO:0008270)	p.L3459F(1)									GAACCAGCTCCTTGCCAGCAA	0.527																																						ENST00000534358.1																			1	Substitution - Missense(1)	p.L3459F(1)	skin(1)								c.(10384-10386)Ctt>Ttt		lysine (K)-specific methyltransferase 2A							122	107	112					11																	118376991		2200	4295	6495	SO:0001583	missense	4297							g.chr11:118376991C>T	L04284	CCDS31686.1, CCDS55791.1	11q23	2014-09-17	2013-05-09	2013-05-09	ENSG00000118058	ENSG00000118058		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	7132	protein-coding gene	gene with protein product		159555	"myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog)", "myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila)"	MLL		1720549	Standard	NM_001197104		Approved	TRX1, HRX, ALL-1, HTRX1, CXXC7, MLL1A		Q03164	OTTHUMG00000166337	ENST00000389506.5:c.10375C>T	11.37:g.118376991C>T	ENSP00000374157:p.Leu3459Phe					KMT2A_ENST00000389506.5_Missense_Mutation_p.L3459F|KMT2A_ENST00000354520.4_Missense_Mutation_p.L3421F	p.L3462F	NM_001197104.1|NM_005933.3	NP_001184033.1|NP_005924.2					27	10407	+								E9PQG7|Q13743|Q13744|Q14845|Q16364|Q59FF2|Q6UBD1|Q9HBJ3|Q9UD94|Q9UMA3	Missense_Mutation	SNP	ENST00000389506.5	37	c.10384C>T	CCDS31686.1	.	.	.	.	.	.	.	.	.	.	C	14.68	2.607632	0.46527	.	.	ENSG00000118058	ENST00000534358;ENST00000389506;ENST00000354520;ENST00000359313	D;D;D	0.85629	-2.01;-2.01;-1.98	6.08	6.08	0.98989	.	0.224065	0.38548	N	0.001657	D	0.88085	0.6342	L	0.40543	1.245	0.53005	D	0.999961	D;D	0.69078	0.997;0.997	D;D	0.63597	0.916;0.916	D	0.88061	0.2794	10	0.62326	D	0.03	.	14.2312	0.65892	0.0:0.924:0.0:0.076	.	3462;3459	E9PQG7;Q03164	.;MLL1_HUMAN	F	3462;3459;3421;2369	ENSP00000436786:L3462F;ENSP00000374157:L3459F;ENSP00000346516:L3421F	ENSP00000346516:L3421F	L	+	1	0	MLL	117882201	0.982000	0.34865	1.000000	0.80357	0.995000	0.86356	1.535000	0.36061	2.894000	0.99253	0.591000	0.81541	CTT		0.527	KMT2A-015	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399085.2	NM_005933		46	52	0	0	0	1	0	46	52					T	118376991	C	T	118376991	3	4	435	1	0	0	0	0	1	0	0	0	9620	681	24	3	10481	3	MLL	11	118376991	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	8302	118376991	16629525	5438	26363											
MLL	4297	broad.mit.edu	37	chr11	118390416	118390416	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgtctggtgccaagcactgtCgaaattacaaattccgtttc	10	13	8	10	2	1	0	0	0	1	0	4	1	2	0	2	1	3	2	2	1	4	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:118390416C>T	ENST00000389506.5	+	32	11221	c.11221C>T	c.(11221-11223)Cga>Tga	p.R3741*	RP11-770J1.3_ENST00000554407.1_RNA|RP11-770J1.3_ENST00000528578.1_RNA|KMT2A_ENST00000354520.4_Nonsense_Mutation_p.R3703*|RP11-770J1.3_ENST00000556583.1_RNA|RP11-770J1.3_ENST00000525992.2_RNA|RP11-770J1.3_ENST00000532597.1_RNA|KMT2A_ENST00000534358.1_Nonsense_Mutation_p.R3744*			Q03164	KMT2A_HUMAN	lysine (K)-specific methyltransferase 2A	3741	FYR C-terminal. {ECO:0000255|PROSITE- ProRule:PRU00876}.				anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|DNA methylation (GO:0006306)|embryonic hemopoiesis (GO:0035162)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|histone H4-K16 acetylation (GO:0043984)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cellular response to drug (GO:2001040)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transporter activity (GO:0032411)|protein complex assembly (GO:0006461)|regulation of histone H3-K4 methylation (GO:0051569)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|histone methyltransferase complex (GO:0035097)|MLL1 complex (GO:0071339)|nucleus (GO:0005634)	AT DNA binding (GO:0003680)|chromatin binding (GO:0003682)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|identical protein binding (GO:0042802)|lysine-acetylated histone binding (GO:0070577)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|unmethylated CpG binding (GO:0045322)|zinc ion binding (GO:0008270)										CAAGCACTGTCGAAATTACAA	0.522																																						ENST00000534358.1																			0											c.(11230-11232)Cga>Tga		lysine (K)-specific methyltransferase 2A							165	149	155					11																	118390416		2200	4295	6495	SO:0001587	stop_gained	4297							g.chr11:118390416C>T	L04284	CCDS31686.1, CCDS55791.1	11q23	2014-09-17	2013-05-09	2013-05-09	ENSG00000118058	ENSG00000118058		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	7132	protein-coding gene	gene with protein product		159555	"myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog)", "myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila)"	MLL		1720549	Standard	NM_001197104		Approved	TRX1, HRX, ALL-1, HTRX1, CXXC7, MLL1A		Q03164	OTTHUMG00000166337	ENST00000389506.5:c.11221C>T	11.37:g.118390416C>T	ENSP00000374157:p.Arg3741*					RP11-770J1.3_ENST00000554407.1_RNA|RP11-770J1.3_ENST00000525992.2_RNA|RP11-770J1.3_ENST00000556583.1_RNA|RP11-770J1.3_ENST00000528578.1_RNA|RP11-770J1.3_ENST00000532597.1_RNA|KMT2A_ENST00000389506.5_Nonsense_Mutation_p.R3741*|KMT2A_ENST00000354520.4_Nonsense_Mutation_p.R3703*	p.R3744*	NM_001197104.1|NM_005933.3	NP_001184033.1|NP_005924.2					32	11253	+								E9PQG7|Q13743|Q13744|Q14845|Q16364|Q59FF2|Q6UBD1|Q9HBJ3|Q9UD94|Q9UMA3	Nonsense_Mutation	SNP	ENST00000389506.5	37	c.11230C>T	CCDS31686.1	.	.	.	.	.	.	.	.	.	.	C	52	19.246714	0.99917	.	.	ENSG00000118058	ENST00000534358;ENST00000389506;ENST00000354520;ENST00000359313	.	.	.	5.82	0.942	0.19525	.	0.119730	0.56097	D	0.000035	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.6414	0.77006	0.4037:0.5963:0.0:0.0	.	.	.	.	X	3744;3741;3703;2651	.	ENSP00000346516:R3703X	R	+	1	2	MLL	117895626	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	3.191000	0.50981	0.618000	0.30179	-0.311000	0.09066	CGA		0.522	KMT2A-015	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399085.2	NM_005933		6	63	0	0	0	1	0	6	63					T	118390416	C	T	118390416	4	4	435	1	0	0	0	0	0	1	0	0	9620	876	31	2	11347	2	MLL	11	118390416	Nonsense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	13425	118390416	16616100	5439	26364											
TMEM25	84866	broad.mit.edu	37	chr11	118403905	118403905	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgacgtgggtgtcaccagtgCgtcgcttccagccccaggtg	5	9	14	13	3	1	1	1	1	0	0	3	1	2	1	4	2	2	1	4	2	0	1	rs140899282		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:118403905C>T	ENST00000313236.5	+	4	709	c.656C>T	c.(655-657)gCg>gTg	p.A219V	RP11-770J1.3_ENST00000554407.1_RNA|TMEM25_ENST00000442938.2_Missense_Mutation_p.A219V|TMEM25_ENST00000533102.1_Missense_Mutation_p.A219V|TMEM25_ENST00000354064.7_Missense_Mutation_p.A115V|TMEM25_ENST00000411589.2_Missense_Mutation_p.A219V|RP11-770J1.3_ENST00000528578.1_RNA|TMEM25_ENST00000524725.1_Missense_Mutation_p.A219V|TMEM25_ENST00000544878.1_Intron|RP11-770J1.3_ENST00000556583.1_RNA|TMEM25_ENST00000529001.1_3'UTR|RP11-770J1.3_ENST00000525992.2_RNA|TMEM25_ENST00000359862.4_Missense_Mutation_p.A219V|RP11-770J1.3_ENST00000532597.1_RNA|TMEM25_ENST00000354284.4_Missense_Mutation_p.A219V	NM_032780.3	NP_116169.2	Q86YD3	TMM25_HUMAN	transmembrane protein 25	219						extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|stomach(1)	13	all_hematologic(175;0.0349)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)		BRCA - Breast invasive adenocarcinoma(274;3.04e-05)		GTCACCAGTGCGTCGCTTCCA	0.617																																						ENST00000524725.1																			0				endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|stomach(1)	13						c.(655-657)gCg>gTg		transmembrane protein 25		C	VAL/ALA,VAL/ALA,VAL/ALA,VAL/ALA,VAL/ALA,VAL/ALA	0,4400		0,0,2200	34	28	30		656,656,344,656,656,656	5.9	1	11	dbSNP_134	30	1,8587	1.2+/-3.3	0,1,4293	no	missense,missense,missense,missense,missense,missense	TMEM25	NM_001144034.1,NM_001144035.1,NM_001144036.1,NM_001144037.1,NM_001144038.1,NM_032780.3	64,64,64,64,64,64	0,1,6493	TT,TC,CC		0.0116,0.0,0.0077	benign,benign,benign,benign,benign,benign	219/323,219/323,115/219,219/352,219/307,219/367	118403905	1,12987	2200	4294	6494	SO:0001583	missense	84866					extracellular region|integral to membrane|plasma membrane		g.chr11:118403905C>T	AK075437	CCDS8398.1, CCDS44745.1, CCDS44746.1, CCDS44747.1, CCDS44748.1	11q23.3	2013-01-11			ENSG00000149582	ENSG00000149582		"Immunoglobulin superfamily / C2-set domain containing"	25890	protein-coding gene	gene with protein product		613934				15254712, 12975309	Standard	NM_001144034		Approved	FLJ14399	uc010rye.2	Q86YD3	OTTHUMG00000166339	ENST00000313236.5:c.656C>T	11.37:g.118403905C>T	ENSP00000315635:p.Ala219Val					TMEM25_ENST00000529001.1_3'UTR|TMEM25_ENST00000442938.2_Missense_Mutation_p.A219V|TMEM25_ENST00000533102.1_Missense_Mutation_p.A219V|TMEM25_ENST00000411589.2_Missense_Mutation_p.A219V|TMEM25_ENST00000544878.1_Intron|TMEM25_ENST00000313236.5_Missense_Mutation_p.A219V|TMEM25_ENST00000359862.4_Missense_Mutation_p.A219V|TMEM25_ENST00000354064.7_Missense_Mutation_p.A115V|TMEM25_ENST00000354284.4_Missense_Mutation_p.A219V	p.A219V			Q86YD3	TMM25_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.04e-05)	3	1068	+	all_hematologic(175;0.0349)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)	219					A8K8J4|B0YJA6|B0YJA7|B0YJA9|G5E9U4|Q6UW89|Q86UA7|Q8NBL5|Q96KA6|Q96MW9	Missense_Mutation	SNP	ENST00000313236.5	37	c.656C>T	CCDS8398.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	34|34	5.399978|5.399978	0.96030|0.96030	0.0|0.0	1.16E-4|1.16E-4	ENSG00000149582|ENSG00000149582	ENST00000411589;ENST00000442938;ENST00000359862;ENST00000354284;ENST00000354064;ENST00000533102;ENST00000313236;ENST00000524725|ENST00000526973	T;T;T;T;T;T;T;T|.	0.34859|.	2.04;2.0;2.04;1.99;1.34;1.94;2.02;2.04|.	5.93|5.93	5.93|5.93	0.95920|0.95920	Immunoglobulin-like fold (1);|.	0.238464|.	0.45606|.	D|.	0.000359|.	T|T	0.37237|0.37237	0.0996|0.0996	N|N	0.03608|0.03608	-0.345|-0.345	0.80722|0.80722	D|D	1|1	P;P;P;P;D;D;P;P|.	0.60160|.	0.822;0.567;0.826;0.891;0.987;0.984;0.891;0.693|.	B;B;B;B;P;P;B;B|.	0.50352|.	0.245;0.116;0.238;0.418;0.638;0.526;0.232;0.232|.	T|T	0.32241|0.32241	-0.9914|-0.9914	10|5	0.30078|.	T|.	0.28|.	-22.391|-22.391	17.5644|17.5644	0.87916|0.87916	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	219;219;219;219;219;219;115;219|.	Q86YD3;B7Z4E4;Q8NBL5;G5E9U4;Q86YD3-4;E9PKP3;Q86YD3-3;Q86YD3-2|.	TMM25_HUMAN;.;.;.;.;.;.;.|.	V|C	219;219;219;219;115;219;219;219|103	ENSP00000411882:A219V;ENSP00000416071:A219V;ENSP00000352924:A219V;ENSP00000346237:A219V;ENSP00000278959:A115V;ENSP00000431548:A219V;ENSP00000315635:A219V;ENSP00000431205:A219V|.	ENSP00000315635:A219V|.	A|R	+|+	2|1	0|0	TMEM25|TMEM25	117909115|117909115	0.998000|0.998000	0.40836|0.40836	0.996000|0.996000	0.52242|0.52242	0.950000|0.950000	0.60333|0.60333	6.041000|6.041000	0.70988|0.70988	2.833000|2.833000	0.97629|0.97629	0.650000|0.650000	0.86243|0.86243	GCG|CGT		0.617	TMEM25-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389266.1	NM_032780		3	12	0	0	0	1	0	3	12					T	118403905	C	T	118403905	3	4	435	1	0	0	0	0	1	0	0	0	16147	768	27	1	666	1	TMEM25	11	118403905	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	13489	118403905	16602611	5440	26365											
ARCN1	372	broad.mit.edu	37	chr11	118461128	118461128	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggattacagaatatggagttGcatggcatgatcatgcttag	12	12	12	5	0	1	2	1	1	0	1	1	4	1	4	0	3	3	4	0	3	4	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:118461128G>A	ENST00000264028.4	+	6	986	c.891G>A	c.(889-891)ttG>ttA	p.L297L	ARCN1_ENST00000534182.2_Intron|ARCN1_ENST00000359415.4_Silent_p.L338L|ARCN1_ENST00000392859.3_Silent_p.L209L	NM_001655.4	NP_001646.2	P48444	COPD_HUMAN	archain 1	297	MHD. {ECO:0000255|PROSITE- ProRule:PRU00404}.				adult locomotory behavior (GO:0008344)|cerebellar Purkinje cell layer maturation (GO:0021691)|COPI coating of Golgi vesicle (GO:0048205)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|pigmentation (GO:0043473)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	clathrin adaptor complex (GO:0030131)|COPI vesicle coat (GO:0030126)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)|urinary_tract(1)	13	all_hematologic(175;0.0349)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.0564)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)		ATATGGAGTTGCATGGCATGA	0.388																																						ENST00000359415.4																			0				endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)|urinary_tract(1)	13						c.(1012-1014)ttG>ttA		archain 1							156	133	141					11																	118461128		2200	4295	6495	SO:0001819	synonymous_variant	372				COPI coating of Golgi vesicle|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	clathrin adaptor complex|COPI vesicle coat|cytosol		g.chr11:118461128G>A	X81197	CCDS8400.1, CCDS44749.1	11q23.3	2010-04-21	2003-01-29		ENSG00000095139	ENSG00000095139			649	protein-coding gene	gene with protein product		600820	"coatomer protein complex, subunit delta"	COPD		7782067, 8854871	Standard	NM_001655		Approved		uc001ptq.3	P48444	OTTHUMG00000166340	ENST00000264028.4:c.891G>A	11.37:g.118461128G>A						ARCN1_ENST00000392859.3_Silent_p.L209L|ARCN1_ENST00000264028.4_Silent_p.L297L|ARCN1_ENST00000534182.2_Intron	p.L338L			P48444	COPD_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)	7	1179	+	all_hematologic(175;0.0349)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.0564)|all_neural(223;0.234)	297			MHD.		B4E1X2|E9PEU4|Q52M80	Silent	SNP	ENST00000264028.4	37	c.1014G>A	CCDS8400.1																																																																																				0.388	ARCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389278.1			4	79	0	0	0	1	0	4	79					A	118461128	G	A	118461128	2	1	435	1	0	0	0	0	0	0	0	1	842	1310	46	3		3	ARCN1	11	118461128	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	57223	118461128	16545388	5441	26366											
TREH	23187	broad.mit.edu	37	chr11	118531315	118531315	+	IGR	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaggcattcaggtcaacaggCaccagtttgcttgttcggat	10	11	11	9	1	2	0	2	0	0	0	3	1	2	1	1	4	2	5	1	4	2	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:118531315C>T	ENST00000361417.2	+	0	5753				TREH_ENST00000530256.1_Silent_p.V222V|TREH_ENST00000525958.1_Silent_p.V314V|TREH_ENST00000264029.4_Silent_p.V345V|TREH_ENST00000397925.1_Silent_p.V314V|TREH_ENST00000529101.1_Silent_p.V345V	NM_015157.3	NP_055972.1	Q86UU1	PHLB1_HUMAN	pleckstrin homology-like domain, family B, member 1											breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(10)|liver(3)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(1)	46	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)		GGTCAACAGGCACCAGTTTGC	0.567																																						ENST00000529101.1																			0				NS(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|urinary_tract(1)	13						c.(1033-1035)gtG>gtA		trehalase (brush-border membrane glycoprotein)							58	63	62					11																	118531315		2081	4215	6296	SO:0001628	intergenic_variant	11181				polysaccharide digestion|trehalose catabolic process	anchored to plasma membrane	alpha,alpha-trehalase activity	g.chr11:118531315C>T		CCDS8401.1, CCDS44750.1	11q23.3	2013-01-10			ENSG00000019144	ENSG00000019144		"Pleckstrin homology (PH) domain containing"	23697	protein-coding gene	gene with protein product		612834				14532993	Standard	NM_015157		Approved	FLJ00141, LL5a, KIAA0638	uc001pts.3	Q86UU1	OTTHUMG00000166341		11.37:g.118531315C>T						TREH_ENST00000525958.1_Silent_p.V314V|TREH_ENST00000530256.1_Silent_p.V222V|TREH_ENST00000397925.1_Silent_p.V314V|TREH_ENST00000264029.4_Silent_p.V345V	p.V345V			O43280	TREA_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.16e-05)	10	1080	-	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.0564)|all_neural(223;0.112)	345					B0YJ63|B0YJ64|O75133|Q4KMF8|Q8TEQ2	Silent	SNP	ENST00000361417.2	37	c.1035G>A	CCDS8401.1																																																																																				0.567	PHLDB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389279.1	NM_015157		5	9	0	0	0	1	0	5	9					T	118531315	C	T	118531315	1	4	435	0	1	0	0	0	0	0	0	0	16466	697	25	3		3	TREH	11	118531315	IGR	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	70187	118531315	16475201	5442	26367											
CXCR5	643	broad.mit.edu	37	chr11	118765271	118765271	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgtcgcggctcctgacgaagCtgggctgtaccggccctgcc	4	8	14	15	4	0	1	0	1	0	0	2	2	1	1	4	3	3	4	4	3	2	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:118765271C>T	ENST00000292174.4	+	2	1194	c.1018C>T	c.(1018-1020)Ctg>Ttg	p.L340L	BCL9L_ENST00000334801.3_3'UTR	NM_001716.4|NM_032966.2	NP_001707.1|NP_116743.1	P32302	CXCR5_HUMAN	chemokine (C-X-C motif) receptor 5	340					B cell activation (GO:0042113)|cellular component movement (GO:0006928)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|lymph node development (GO:0048535)|positive regulation of cytokinesis (GO:0032467)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	C-X-C chemokine receptor activity (GO:0016494)|G-protein coupled receptor activity (GO:0004930)			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(5)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.62e-05)		CCTGACGAAGCTGGGCTGTAC	0.622																																						ENST00000292174.4																			0				breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(5)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19						c.(1018-1020)Ctg>Ttg		chemokine (C-X-C motif) receptor 5							58	54	55					11																	118765271		2200	4295	6495	SO:0001819	synonymous_variant	643				B cell activation|cellular component movement	integral to plasma membrane	C-X-C chemokine receptor activity	g.chr11:118765271C>T	X68829	CCDS8402.1	11q23.3	2012-08-08	2008-01-22	2008-01-22	ENSG00000160683	ENSG00000160683		"CD molecules", "GPCR / Class A : Chemokine receptors : C-X-C motif"	1060	protein-coding gene	gene with protein product		601613	"Burkitt lymphoma receptor 1, GTP-binding protein", "Burkitt lymphoma receptor 1, GTP binding protein (chemokine (C-X-C motif) receptor 5)"	BLR1		1425907	Standard	NM_001716		Approved	MDR15, CD185	uc001pue.4	P32302	OTTHUMG00000166345	ENST00000292174.4:c.1018C>T	11.37:g.118765271C>T						BCL9L_ENST00000334801.3_3'UTR	p.L340L	NM_001716.4|NM_032966.2	NP_001707.1|NP_116743.1	P32302	CXCR5_HUMAN		BRCA - Breast invasive adenocarcinoma(274;7.62e-05)	2	1194	+	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)	340					Q14811	Silent	SNP	ENST00000292174.4	37	c.1018C>T	CCDS8402.1																																																																																				0.622	CXCR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389309.1	NM_001716		15	31	0	0	0	1	0	15	31					T	118765271	C	T	118765271	2	4	435	1	0	0	0	0	0	0	0	1	4094	796	28	3		3	CXCR5	11	118765271	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	233956	118765271	16241245	5443	26368											
BCL9L	283149	broad.mit.edu	37	chr11	118770809	118770809	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ctgggaaggtgtggggtctgGggaggaagtgaatggtaggc	8	8	22	3	0	1	1	0	1	1	0	1	4	1	4	0	9	0	1	0	9	4	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:118770809G>A	ENST00000334801.3	-	7	4187	c.3223C>T	c.(3223-3225)Cca>Tca	p.P1075S	BCL9L_ENST00000526143.1_5'UTR	NM_182557.2	NP_872363.1	Q86UU0	BCL9L_HUMAN	B-cell CLL/lymphoma 9-like	1075	Pro-rich.				canonical Wnt signaling pathway (GO:0060070)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell morphogenesis (GO:0022604)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	beta-catenin binding (GO:0008013)|transcription coactivator activity (GO:0003713)			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	56	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.66e-05)		GTGGGGTCTGGGGAGGAAGTG	0.632																																						ENST00000334801.3																			0				NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	56						c.(3223-3225)Cca>Tca		B-cell CLL/lymphoma 9-like							127	119	122					11																	118770809		2200	4295	6495	SO:0001583	missense	283149				negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		transcription coactivator activity	g.chr11:118770809G>A	AB094091	CCDS8403.1	11q23.3	2012-06-06				ENSG00000186174			23688	protein-coding gene	gene with protein product		609004				12964048	Standard	NM_182557		Approved	DLNB11	uc001pug.3	Q86UU0		ENST00000334801.3:c.3223C>T	11.37:g.118770809G>A	ENSP00000335320:p.Pro1075Ser					BCL9L_ENST00000526143.1_5'UTR	p.P1075S	NM_182557.2	NP_872363.1	Q86UU0	BCL9L_HUMAN		BRCA - Breast invasive adenocarcinoma(274;7.66e-05)	7	4187	-	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)	1075			Pro-rich.		A1A4C1|Q67FY1|Q6ZWJ0|Q6ZWK2	Missense_Mutation	SNP	ENST00000334801.3	37	c.3223C>T	CCDS8403.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.282853	0.80692	.	.	ENSG00000186174	ENST00000334801;ENST00000526143;ENST00000525300;ENST00000392849;ENST00000431085	T	0.52057	0.68	4.38	4.38	0.52667	.	0.000000	0.50627	D	0.000110	T	0.59307	0.2184	L	0.34521	1.04	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.87578	0.998;0.915	T	0.64854	-0.6309	10	0.87932	D	0	-4.8977	17.1466	0.86767	0.0:0.0:1.0:0.0	.	1070;1075	Q86UU0-2;Q86UU0	.;BCL9L_HUMAN	S	1075;1038;368;1075;1075	ENSP00000335320:P1075S	ENSP00000335320:P1075S	P	-	1	0	BCL9L	118276019	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.648000	0.98483	2.262000	0.75019	0.561000	0.74099	CCA		0.632	BCL9L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389653.1	NM_182557		28	46	0	0	0	1	0	28	46					A	118770809	G	A	118770809	3	1	435	1	0	0	0	0	1	0	0	0	1382	1232	43	3	1284	3	BCL9L	11	118770809	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	5538	118770809	16235707	5444	26369											
BCL9L	283149	broad.mit.edu	37	chr11	118771450	118771450	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccagcctggagaaggcaccGccatggaaggagacttgagc	11	4	14	12	1	0	3	0	1	0	2	0	6	0	4	4	4	2	1	4	4	2	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:118771450G>A	ENST00000334801.3	-	6	3966	c.3002C>T	c.(3001-3003)gCg>gTg	p.A1001V	BCL9L_ENST00000526143.1_5'UTR	NM_182557.2	NP_872363.1	Q86UU0	BCL9L_HUMAN	B-cell CLL/lymphoma 9-like	1001	Pro-rich.				canonical Wnt signaling pathway (GO:0060070)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell morphogenesis (GO:0022604)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	beta-catenin binding (GO:0008013)|transcription coactivator activity (GO:0003713)			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	56	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.66e-05)		AGAAGGCACCGCCATGGAAGG	0.642																																						ENST00000334801.3																			0				NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	56						c.(3001-3003)gCg>gTg		B-cell CLL/lymphoma 9-like							72	71	72					11																	118771450		2200	4295	6495	SO:0001583	missense	283149				negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		transcription coactivator activity	g.chr11:118771450G>A	AB094091	CCDS8403.1	11q23.3	2012-06-06				ENSG00000186174			23688	protein-coding gene	gene with protein product		609004				12964048	Standard	NM_182557		Approved	DLNB11	uc001pug.3	Q86UU0		ENST00000334801.3:c.3002C>T	11.37:g.118771450G>A	ENSP00000335320:p.Ala1001Val					BCL9L_ENST00000526143.1_5'UTR	p.A1001V	NM_182557.2	NP_872363.1	Q86UU0	BCL9L_HUMAN		BRCA - Breast invasive adenocarcinoma(274;7.66e-05)	6	3966	-	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)	1001			Pro-rich.		A1A4C1|Q67FY1|Q6ZWJ0|Q6ZWK2	Missense_Mutation	SNP	ENST00000334801.3	37	c.3002C>T	CCDS8403.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.8|20.8	4.051283|4.051283	0.75960|0.75960	.|.	.|.	ENSG00000186174|ENSG00000186174	ENST00000334801;ENST00000526143;ENST00000525300;ENST00000392849;ENST00000431085|ENST00000530293	T|.	0.43688|.	0.94|.	4.96|4.96	4.96|4.96	0.65561|0.65561	.|.	0.000000|.	0.47455|.	D|.	0.000223|.	T|T	0.36908|0.36908	0.0984|0.0984	N|N	0.14661|0.14661	0.345|0.345	0.34128|0.34128	D|D	0.664936|0.664936	D;D|.	0.63046|.	0.975;0.992|.	P;P|.	0.45343|.	0.477;0.46|.	T|T	0.46857|0.46857	-0.9161|-0.9161	10|5	0.72032|.	D|.	0.01|.	-12.258|-12.258	13.3809|13.3809	0.60766|0.60766	0.0:0.0:0.8428:0.1572|0.0:0.0:0.8428:0.1572	.|.	996;1001|.	Q86UU0-2;Q86UU0|.	.;BCL9L_HUMAN|.	V|W	1001;964;294;1001;1001|21	ENSP00000335320:A1001V|.	ENSP00000335320:A1001V|.	A|R	-|-	2|1	0|2	BCL9L|BCL9L	118276660|118276660	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	5.990000|5.990000	0.70595|0.70595	2.556000|2.556000	0.86216|0.86216	0.655000|0.655000	0.94253|0.94253	GCG|CGG		0.642	BCL9L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389653.1	NM_182557		26	34	0	0	0	1	0	26	34					A	118771450	G	A	118771450	3	1	435	1	0	0	0	0	1	0	0	0	1382	1087	38	1	1509	1	BCL9L	11	118771450	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	641	118771450	16235066	5445	26370											
BCL9L	283149	broad.mit.edu	37	chr11	118772814	118772814	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cccatgcccatcatgtcctgCagaggacggctcccatgcag	8	7	10	16	1	1	1	1	0	0	1	3	2	3	2	4	2	3	3	4	2	0	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:118772814C>T	ENST00000334801.3	-	6	2602	c.1638G>A	c.(1636-1638)ctG>ctA	p.L546L	BCL9L_ENST00000526143.1_5'UTR	NM_182557.2	NP_872363.1	Q86UU0	BCL9L_HUMAN	B-cell CLL/lymphoma 9-like	546					canonical Wnt signaling pathway (GO:0060070)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell morphogenesis (GO:0022604)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	beta-catenin binding (GO:0008013)|transcription coactivator activity (GO:0003713)			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	56	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.66e-05)		TCATGTCCTGCAGAGGACGGC	0.632																																						ENST00000334801.3																			0				NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	56						c.(1636-1638)ctG>ctA		B-cell CLL/lymphoma 9-like							76	78	77					11																	118772814		2200	4295	6495	SO:0001819	synonymous_variant	283149				negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		transcription coactivator activity	g.chr11:118772814C>T	AB094091	CCDS8403.1	11q23.3	2012-06-06				ENSG00000186174			23688	protein-coding gene	gene with protein product		609004				12964048	Standard	NM_182557		Approved	DLNB11	uc001pug.3	Q86UU0		ENST00000334801.3:c.1638G>A	11.37:g.118772814C>T						BCL9L_ENST00000526143.1_5'UTR	p.L546L	NM_182557.2	NP_872363.1	Q86UU0	BCL9L_HUMAN		BRCA - Breast invasive adenocarcinoma(274;7.66e-05)	6	2602	-	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)	546					A1A4C1|Q67FY1|Q6ZWJ0|Q6ZWK2	Silent	SNP	ENST00000334801.3	37	c.1638G>A	CCDS8403.1																																																																																				0.632	BCL9L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389653.1	NM_182557		10	30	0	0	0	1	0	10	30					T	118772814	C	T	118772814	2	4	435	1	0	0	0	0	0	0	0	1	1382	697	25	3		3	BCL9L	11	118772814	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	1364	118772814	16233702	5446	26371											
BCL9L	283149	broad.mit.edu	37	chr11	118773618	118773618	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggggggcactttaggggcCtgcagaaggacaaagagagc	11	5	18	7	0	0	2	0	0	0	2	0	4	0	3	1	6	2	2	1	6	3	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:118773618C>A	ENST00000334801.3	-	6	1799		c.e6-1		BCL9L_ENST00000526143.1_Splice_Site	NM_182557.2	NP_872363.1	Q86UU0	BCL9L_HUMAN	B-cell CLL/lymphoma 9-like						canonical Wnt signaling pathway (GO:0060070)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell morphogenesis (GO:0022604)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	beta-catenin binding (GO:0008013)|transcription coactivator activity (GO:0003713)			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	56	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.66e-05)		CTTTAGGGGCCTGCAGAAGGA	0.677																																						ENST00000334801.3																			0				NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	56						c.e6-1		B-cell CLL/lymphoma 9-like							14	16	15					11																	118773618		2199	4294	6493	SO:0001630	splice_region_variant	283149				negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		transcription coactivator activity	g.chr11:118773618C>A	AB094091	CCDS8403.1	11q23.3	2012-06-06				ENSG00000186174			23688	protein-coding gene	gene with protein product		609004				12964048	Standard	NM_182557		Approved	DLNB11	uc001pug.3	Q86UU0		ENST00000334801.3:c.835-1G>T	11.37:g.118773618C>A						BCL9L_ENST00000526143.1_Splice_Site		NM_182557.2	NP_872363.1	Q86UU0	BCL9L_HUMAN		BRCA - Breast invasive adenocarcinoma(274;7.66e-05)	6	1799	-	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)						A1A4C1|Q67FY1|Q6ZWJ0|Q6ZWK2	Splice_Site	SNP	ENST00000334801.3	37		CCDS8403.1	.	.	.	.	.	.	.	.	.	.	C	12.94	2.087181	0.36855	.	.	ENSG00000186174	ENST00000334801;ENST00000526143;ENST00000392849;ENST00000431085	.	.	.	4.1	4.1	0.47936	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.68	0.69009	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	BCL9L	118278828	1.000000	0.71417	0.984000	0.44739	0.545000	0.35147	2.833000	0.48159	2.133000	0.65898	0.305000	0.20034	.		0.677	BCL9L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389653.1	NM_182557	Intron	6	3	1	0	0.0293803	1	0.0295506	6	3					A	118773618	C	A	118773618	5	1	435	1	0	0	0	0	0	0	1	0	1382	695	24	5	3677	5	BCL9L	11	118773618	Splice_Site	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	804	118773618	16232898	5447	26372											
FOXR1	283150	broad.mit.edu	37	chr11	118849494	118849494	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtctttctttttgccagttGccaggtataaactccgaatt	8	17	7	9	1	2	0	0	0	2	0	3	1	3	0	3	1	3	2	3	1	4	7			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:118849494G>A	ENST00000317011.3	+	2	289	c.64G>A	c.(64-66)Gcc>Acc	p.A22T		NM_181721.2	NP_859072.1	Q6PIV2	FOXR1_HUMAN	forkhead box R1	22					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	16	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.62e-05)		TTTGCCAGTTGCCAGGTATAA	0.438																																						ENST00000317011.3																			0				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	16						c.(64-66)Gcc>Acc		forkhead box R1							127	129	128					11																	118849494		2200	4295	6495	SO:0001583	missense	283150				embryo development|organ development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chr11:118849494G>A	AB094092	CCDS31688.1	11q23.3	2008-02-05			ENSG00000176302	ENSG00000176302		"Forkhead boxes"	29980	protein-coding gene	gene with protein product		615755				15067358	Standard	XM_005271514		Approved	DLNB13, FOXN5	uc001pui.3	Q6PIV2	OTTHUMG00000166347	ENST00000317011.3:c.64G>A	11.37:g.118849494G>A	ENSP00000314806:p.Ala22Thr						p.A22T	NM_181721.2	NP_859072.1	Q6PIV2	FOXR1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;7.62e-05)	2	289	+	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)	22					B0YJ15|Q08AS8|Q86UT9|Q8IXX2	Missense_Mutation	SNP	ENST00000317011.3	37	c.64G>A	CCDS31688.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.057227	0.76074	.	.	ENSG00000176302	ENST00000317011	D	0.95788	-3.81	4.44	4.44	0.53790	.	1.744140	0.02290	N	0.070224	D	0.96150	0.8745	L	0.61036	1.89	0.35322	D	0.784845	D	0.54047	0.964	P	0.50352	0.638	D	0.89486	0.3753	10	0.29301	T	0.29	.	12.8873	0.58051	0.0:0.0:1.0:0.0	.	22	Q6PIV2	FOXR1_HUMAN	T	22	ENSP00000314806:A22T	ENSP00000314806:A22T	A	+	1	0	FOXR1	118354704	0.998000	0.40836	0.997000	0.53966	0.089000	0.18198	2.382000	0.44345	2.769000	0.95229	0.655000	0.94253	GCC		0.438	FOXR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389312.1	NM_181721		29	37	0	0	0	1	0	29	37					A	118849494	G	A	118849494	3	1	435	1	0	0	0	0	1	0	0	0	6031	1319	46	3	70	3	FOXR1	11	118849494	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	75876	118849494	16157022	5448	26373											
SLC37A4	2542	broad.mit.edu	37	chr11	118898389	118898389	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gttgcggagtccaacatcagCaggttcattgtggatgagca	10	10	13	8	1	2	1	2	1	0	0	3	3	3	3	1	3	4	4	1	3	1	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:118898389C>T	ENST00000545985.1	-	6	1330	c.574G>A	c.(574-576)Gct>Act	p.A192T	SLC37A4_ENST00000330775.7_Missense_Mutation_p.A191T|SLC37A4_ENST00000357590.5_Missense_Mutation_p.A192T|SLC37A4_ENST00000538950.1_Missense_Mutation_p.A119T|SLC37A4_ENST00000525102.1_5'UTR	NM_001164277.1|NM_001467.5	NP_001157749.1|NP_001458.1	O43826	G6PT1_HUMAN	solute carrier family 37 (glucose-6-phosphate transporter), member 4	192					carbohydrate metabolic process (GO:0005975)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glucose transport (GO:0015758)|glucose-6-phosphate transport (GO:0015760)|hexose transport (GO:0008645)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	glucose-6-phosphate transmembrane transporter activity (GO:0015152)|transporter activity (GO:0005215)			endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|prostate(1)	6	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_neural(223;0.112)|all_hematologic(192;0.207)		BRCA - Breast invasive adenocarcinoma(274;7.58e-05)		CCAACATCAGCAGGTTCATTG	0.607																																						ENST00000545985.1																			0				endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|prostate(1)	6						c.(574-576)Gct>Act		solute carrier family 37 (glucose-6-phosphate transporter), member 4							60	68	65					11																	118898389		2101	4215	6316	SO:0001583	missense	2542				glucose homeostasis|glucose metabolic process	endoplasmic reticulum membrane|integral to endoplasmic reticulum membrane|integral to membrane	glucose-6-phosphate transmembrane transporter activity	g.chr11:118898389C>T	Y15409		11q23.3	2014-09-17	2007-03-28	2003-09-10		ENSG00000137700		"Solute carriers"	4061	protein-coding gene	gene with protein product		602671	"glucose-6-phosphatase, transport (glucose-6-phosphate) protein 1"	G6PT1, G6PT2, G6PT3		9428641, 9463334	Standard	NM_001164277		Approved	GSD1b, GSD1c, GSD1d	uc010ryt.1	O43826		ENST00000545985.1:c.574G>A	11.37:g.118898389C>T	ENSP00000475241:p.Ala192Thr					SLC37A4_ENST00000538950.1_Missense_Mutation_p.A119T|SLC37A4_ENST00000330775.7_Missense_Mutation_p.A191T|SLC37A4_ENST00000525102.1_5'UTR|SLC37A4_ENST00000357590.5_Missense_Mutation_p.A192T	p.A192T	NM_001164277.1|NM_001467.5	NP_001157749.1|NP_001458.1	O43826	G6PT1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;7.58e-05)	6	1330	-	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_neural(223;0.112)|all_hematologic(192;0.207)	192					O96016|Q5J7V4|Q9UI19|Q9UNS4	Missense_Mutation	SNP	ENST00000545985.1	37	c.574G>A																																																																																					0.607	SLC37A4-204	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001467		10	10	0	0	0	1	0	10	10					T	118898389	C	T	118898389	3	4	435	1	0	0	0	0	1	0	0	0	14600	710	25	3	809	3	SLC37A4	11	118898389	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	48895	118898389	16108127	5449	26374											
C2CD2L	1798	broad.mit.edu	37	chr11	118978777	118978777	+	5'UTR	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcagcgggcttgggtgcgagCgctgaacgagcaggcctgca	7	5	18	11	4	0	1	0	1	0	0	0	3	0	1	1	3	6	5	1	3	1	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:118978777C>T	ENST00000409993.2	-	0	264				C2CD2L_ENST00000336702.3_Missense_Mutation_p.A109V|C2CD2L_ENST00000528586.1_5'Flank			Q9H3H5	GPT_HUMAN	dolichyl-phosphate (UDP-N-acetylglucosamine) N-acetylglucosaminephosphotransferase 1 (GlcNAc-1-P transferase)						cellular protein metabolic process (GO:0044267)|dolichol biosynthetic process (GO:0019408)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)|protein oligomerization (GO:0051259)|UDP-N-acetylglucosamine metabolic process (GO:0006047)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)	phospho-N-acetylmuramoyl-pentapeptide-transferase activity (GO:0008963)|transferase activity, transferring glycosyl groups (GO:0016757)|UDP-N-acetylglucosamine-dolichyl-phosphate N-acetylglucosaminephosphotransferase activity (GO:0003975)			breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(2)	17	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.55e-05)		TGGGTGCGAGCGCTGAACGAG	0.657																																						ENST00000336702.3																			0				NS(1)|endometrium(1)|large_intestine(2)|lung(8)|prostate(1)	13						c.(325-327)gCg>gTg		C2CD2-like							21	25	24					11																	118978777		2139	4211	6350	SO:0001623	5_prime_UTR_variant	9854					integral to membrane		g.chr11:118978777C>T	Z82022	CCDS8411.1	11q23.3	2007-12-14			ENSG00000172269	ENSG00000172269	2.7.8.15		2995	protein-coding gene	gene with protein product		191350		DPAGT2, DPAGT		8244387	Standard	NM_001382		Approved	GPT, D11S366, DGPT, ALG7, CDG-Ij	uc001pvi.3	Q9H3H5	OTTHUMG00000153533	ENST00000409993.2:c.-1288G>A	11.37:g.118978777C>T						DPAGT1_ENST00000409993.2_5'UTR	p.A109V	NM_014807.3	NP_055622.3	O14523	C2C2L_HUMAN			1	685	+			109					O15216|Q86WV9|Q9BWE6	Missense_Mutation	SNP	ENST00000409993.2	37	c.326C>T	CCDS8411.1	.	.	.	.	.	.	.	.	.	.	C	35	5.567075	0.96540	.	.	ENSG00000172375	ENST00000336702	T	0.53640	0.61	4.87	4.87	0.63330	.	0.051916	0.85682	D	0.000000	T	0.65719	0.2718	M	0.64997	1.995	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.68704	-0.5338	10	0.87932	D	0	-2.2178	14.8597	0.70372	0.0:1.0:0.0:0.0	.	109;109	O14523;O14523-2	C2C2L_HUMAN;.	V	109	ENSP00000338885:A109V	ENSP00000338885:A109V	A	+	2	0	C2CD2L	118483987	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	6.332000	0.72934	2.510000	0.84645	0.563000	0.77884	GCG		0.657	DPAGT1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331527.2	NM_001382		11	28	0	0	0	1	0	11	28					T	118978777	C	T	118978777	1	4	435	0	1	0	0	0	0	0	0	0	2153	768	27	1		1	C2CD2L	11	118978777	5'UTR	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	80388	118978777	16027739	5450	26375											
C2CD2L	9854	broad.mit.edu	37	chr11	118986911	118986911	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttctcgccgccttatcaagcGcttttccttcaaatccaaac	9	13	4	15	3	3	0	2	0	1	0	6	0	5	0	4	0	2	1	4	0	4	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:118986911G>A	ENST00000336702.3	+	14	2428	c.2069G>A	c.(2068-2070)cGc>cAc	p.R690H	C2CD2L_ENST00000528586.1_3'UTR	NM_014807.3	NP_055622.3	O14523	C2C2L_HUMAN	C2CD2-like	689						integral component of membrane (GO:0016021)				NS(1)|endometrium(1)|large_intestine(2)|lung(8)|prostate(1)	13						CTTATCAAGCGCTTTTCCTTC	0.582																																						ENST00000336702.3																			0				NS(1)|endometrium(1)|large_intestine(2)|lung(8)|prostate(1)	13						c.(2068-2070)cGc>cAc		C2CD2-like							88	86	87					11																	118986911		2200	4295	6495	SO:0001583	missense	9854					integral to membrane		g.chr11:118986911G>A	AK025223	CCDS8413.1	11q23.3	2008-04-22	2008-04-22	2008-04-22		ENSG00000172375			29000	protein-coding gene	gene with protein product			"transmembrane protein 24"	TMEM24		15289880	Standard	XM_005271738		Approved	KIAA0285	uc001pvn.3	O14523		ENST00000336702.3:c.2069G>A	11.37:g.118986911G>A	ENSP00000338885:p.Arg690His					C2CD2L_ENST00000528586.1_3'UTR	p.R690H	NM_014807.3	NP_055622.3	O14523	C2C2L_HUMAN			14	2428	+			689					Q86UT7|Q86V04|Q8N522|Q8TBN4|Q96G10	Missense_Mutation	SNP	ENST00000336702.3	37	c.2069G>A	CCDS8413.1	.	.	.	.	.	.	.	.	.	.	G	34	5.296041	0.95574	.	.	ENSG00000172375	ENST00000336702	T	0.59083	0.29	5.21	5.21	0.72293	.	0.000000	0.85682	D	0.000000	T	0.72244	0.3436	L	0.51422	1.61	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.74225	-0.3734	10	0.87932	D	0	-20.6835	17.918	0.88958	0.0:0.0:1.0:0.0	.	689;690	O14523;O14523-2	C2C2L_HUMAN;.	H	690	ENSP00000338885:R690H	ENSP00000338885:R690H	R	+	2	0	C2CD2L	118492121	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.770000	0.91746	2.693000	0.91896	0.655000	0.94253	CGC		0.582	C2CD2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388197.2	NM_014807		12	15	0	0	0	1	0	12	15					A	118986911	G	A	118986911	3	1	435	1	0	0	0	0	1	0	0	0	2153	1087	38	1	2123	1	C2CD2L	11	118986911	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	8134	118986911	16019605	5451	26376											
ABCG4	64137	broad.mit.edu	37	chr11	119027082	119027082	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccaagtggtgtccctcatgAagtccctggcacaggggggc	7	8	14	12	0	1	1	1	1	0	0	4	1	4	1	3	5	0	1	3	5	2	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:119027082A>G	ENST00000449422.2	+	7	918	c.730A>G	c.(730-732)Aag>Gag	p.K244E	ABCG4_ENST00000531739.1_Missense_Mutation_p.K244E|ABCG4_ENST00000307417.3_Missense_Mutation_p.K244E	NM_001142505.1	NP_001135977.1	Q9H172	ABCG4_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 4	244	ABC transporter. {ECO:0000255|PROSITE- ProRule:PRU00434}.				cholesterol efflux (GO:0033344)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|cholesterol transporter activity (GO:0017127)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(28)|ovary(2)|prostate(1)|skin(1)	44	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)		GTCCCTCATGAAGTCCCTGGC	0.587																																						ENST00000307417.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(28)|ovary(2)|prostate(1)|skin(1)	44						c.(730-732)Aag>Gag		ATP-binding cassette, sub-family G (WHITE), member 4							145	136	139					11																	119027082		2200	4295	6495	SO:0001583	missense	64137				cholesterol efflux	integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity|protein homodimerization activity	g.chr11:119027082A>G	AJ300465	CCDS8415.1	11q23	2012-03-14			ENSG00000172350	ENSG00000172350		"ATP binding cassette transporters / subfamily G"	13884	protein-coding gene	gene with protein product	"putative ABC transporter", "ATP-binding cassette, subfamily G, member 4"	607784				11435397	Standard	NM_022169		Approved	WHITE2	uc001pvs.3	Q9H172	OTTHUMG00000166169	ENST00000449422.2:c.730A>G	11.37:g.119027082A>G	ENSP00000406874:p.Lys244Glu					ABCG4_ENST00000531739.1_Missense_Mutation_p.K244E|ABCG4_ENST00000449422.2_Missense_Mutation_p.K244E	p.K244E	NM_022169.4	NP_071452.2	Q9H172	ABCG4_HUMAN		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)	7	1094	+	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)	244			ABC transporter.		A8K1B5|Q8WWH0|Q8WWH1|Q8WWH2	Missense_Mutation	SNP	ENST00000449422.2	37	c.730A>G	CCDS8415.1	.	.	.	.	.	.	.	.	.	.	A	18.63	3.665275	0.67700	.	.	ENSG00000172350	ENST00000307417;ENST00000449422;ENST00000531739	T;T;T	0.44482	0.92;0.92;0.92	4.97	4.97	0.65823	ATPase, AAA+ type, core (1);ABC transporter-like (1);	0.290817	0.37012	N	0.002288	T	0.37839	0.1018	L	0.41236	1.265	0.58432	D	0.999993	P	0.52316	0.952	P	0.44422	0.449	T	0.34329	-0.9833	10	0.87932	D	0	-26.5852	11.7288	0.51724	0.8423:0.1577:0.0:0.0	.	244	Q9H172	ABCG4_HUMAN	E	244	ENSP00000304111:K244E;ENSP00000406874:K244E;ENSP00000434318:K244E	ENSP00000304111:K244E	K	+	1	0	ABCG4	118532292	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.670000	0.68088	2.083000	0.62718	0.528000	0.53228	AAG		0.587	ABCG4-002	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388215.1	NM_022169		43	59	0	0	0	1	0	43	59					G	119027082	A	G	119027082	3	3	435	1	0	0	0	0	1	0	0	0	70	247	9	4	752	4	ABCG4	11	119027082	Missense_Mutation	SNP	A	TCGA-XK-AAIW-01A-11D-A41K-08	40171	119027082	15979434	5452	26377											
ABCG4	64137	broad.mit.edu	37	chr11	119031662	119031662	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cctgacatgtttagaggaacGctgcccgttccgggagccac	8	8	12	13	3	0	2	0	1	0	1	1	4	1	4	4	2	3	3	4	2	2	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:119031662G>A	ENST00000449422.2	+	15	1975	c.1787G>A	c.(1786-1788)cGc>cAc	p.R596H	ABCG4_ENST00000531739.1_Missense_Mutation_p.R596H|ABCG4_ENST00000307417.3_Missense_Mutation_p.R596H	NM_001142505.1	NP_001135977.1	Q9H172	ABCG4_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 4	596	ABC transmembrane type-2.				cholesterol efflux (GO:0033344)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|cholesterol transporter activity (GO:0017127)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)	p.R596H(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(28)|ovary(2)|prostate(1)|skin(1)	44	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)		TTAGAGGAACGCTGCCCGTTC	0.557																																						ENST00000307417.3																			1	Substitution - Missense(1)	p.R596H(1)	endometrium(1)	breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(28)|ovary(2)|prostate(1)|skin(1)	44						c.(1786-1788)cGc>cAc		ATP-binding cassette, sub-family G (WHITE), member 4							107	94	99					11																	119031662		2200	4295	6495	SO:0001583	missense	64137				cholesterol efflux	integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity|protein homodimerization activity	g.chr11:119031662G>A	AJ300465	CCDS8415.1	11q23	2012-03-14			ENSG00000172350	ENSG00000172350		"ATP binding cassette transporters / subfamily G"	13884	protein-coding gene	gene with protein product	"putative ABC transporter", "ATP-binding cassette, subfamily G, member 4"	607784				11435397	Standard	NM_022169		Approved	WHITE2	uc001pvs.3	Q9H172	OTTHUMG00000166169	ENST00000449422.2:c.1787G>A	11.37:g.119031662G>A	ENSP00000406874:p.Arg596His					ABCG4_ENST00000531739.1_Missense_Mutation_p.R596H|ABCG4_ENST00000449422.2_Missense_Mutation_p.R596H	p.R596H	NM_022169.4	NP_071452.2	Q9H172	ABCG4_HUMAN		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)	15	2151	+	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)	596			ABC transmembrane type-2.		A8K1B5|Q8WWH0|Q8WWH1|Q8WWH2	Missense_Mutation	SNP	ENST00000449422.2	37	c.1787G>A	CCDS8415.1	.	.	.	.	.	.	.	.	.	.	G	11.32	1.603853	0.28534	.	.	ENSG00000172350	ENST00000307417;ENST00000449422;ENST00000531739	T;T;T	0.41065	1.01;1.01;1.01	5.55	-8.14	0.01069	.	1.146220	0.06001	N	0.647769	T	0.21227	0.0511	N	0.19112	0.55	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.22347	-1.0219	10	0.45353	T	0.12	-0.9795	4.4276	0.11511	0.5757:0.1629:0.142:0.1194	.	596	Q9H172	ABCG4_HUMAN	H	596	ENSP00000304111:R596H;ENSP00000406874:R596H;ENSP00000434318:R596H	ENSP00000304111:R596H	R	+	2	0	ABCG4	118536872	0.000000	0.05858	0.001000	0.08648	0.664000	0.39144	0.520000	0.22878	-1.323000	0.02275	-0.136000	0.14681	CGC		0.557	ABCG4-002	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388215.1	NM_022169		17	18	0	0	0	1	0	17	18					A	119031662	G	A	119031662	3	1	435	1	0	0	0	0	1	0	0	0	70	1087	38	1	1841	1	ABCG4	11	119031662	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	4580	119031662	15974854	5453	26378											
NLRX1	79671	broad.mit.edu	37	chr11	119044644	119044644	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgaaggaggttctgccccTgatggctgctgctgggtccc	4	10	14	13	0	1	2	0	2	1	0	2	3	2	3	4	4	3	4	4	4	1	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:119044644T>C	ENST00000409109.1	+	5	1273	c.686T>C	c.(685-687)cTg>cCg	p.L229P	NLRX1_ENST00000409991.1_Missense_Mutation_p.L229P|NLRX1_ENST00000292199.2_Missense_Mutation_p.L229P|NLRX1_ENST00000409265.4_Missense_Mutation_p.L229P|NLRX1_ENST00000525863.1_Missense_Mutation_p.L229P	NM_001282144.1	NP_001269073.1	Q86UT6	NLRX1_HUMAN	NLR family member X1	229	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.|Required for interaction with MAVS.				innate immune response (GO:0045087)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of inflammatory response (GO:0050728)|negative regulation of innate immune response (GO:0045824)|negative regulation of interferon-beta production (GO:0032688)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of RIG-I signaling pathway (GO:0039536)|negative regulation of type I interferon production (GO:0032480)|viral process (GO:0016032)	mitochondrial outer membrane (GO:0005741)	ATP binding (GO:0005524)			cervix(1)|endometrium(2)|kidney(2)|lung(10)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	22	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)		GTTCTGCCCCTGATGGCTGCT	0.632																																						ENST00000409109.1																			0				cervix(1)|endometrium(2)|kidney(2)|lung(10)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	22						c.(685-687)cTg>cCg		NLR family member X1							78	67	71					11																	119044644		2200	4295	6495	SO:0001583	missense	79671				innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production	mitochondrial outer membrane	ATP binding	g.chr11:119044644T>C	AB094095	CCDS8416.1	11q23.3	2007-02-07			ENSG00000160703	ENSG00000160703		"Nucleotide-binding domain and leucine rich repeat containing"	29890	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat containing X1", "NOD-like receptor X1", "NLR family, X1"	611947				12766759	Standard	XM_005271669		Approved	NOD9, CLR11.3	uc001pvw.3	Q86UT6	OTTHUMG00000154476	ENST00000409109.1:c.686T>C	11.37:g.119044644T>C	ENSP00000387334:p.Leu229Pro					NLRX1_ENST00000525863.1_Missense_Mutation_p.L229P|NLRX1_ENST00000409991.1_Missense_Mutation_p.L229P|NLRX1_ENST00000409265.4_Missense_Mutation_p.L229P|NLRX1_ENST00000292199.2_Missense_Mutation_p.L229P	p.L229P			Q86UT6	NLRX1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)	5	1273	+	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)	229			NACHT.|Required for interaction with MAVS.		A8K6Q1|B3KPK2|B3KTA2|Q7RTR3|Q96D51|Q9H724	Missense_Mutation	SNP	ENST00000409109.1	37	c.686T>C	CCDS8416.1	.	.	.	.	.	.	.	.	.	.	T	13.35	2.210352	0.39003	.	.	ENSG00000160703	ENST00000409991;ENST00000292199;ENST00000409265;ENST00000409109;ENST00000525863	T;T;T;T;T	0.77358	-1.09;-1.09;-1.09;-1.09;-1.09	5.93	4.81	0.61882	NACHT nucleoside triphosphatase (1);	0.127764	0.36482	N	0.002572	D	0.82674	0.5088	L	0.59436	1.845	0.58432	D	0.999999	D;D	0.76494	0.999;0.999	D;D	0.72982	0.974;0.979	T	0.79522	-0.1769	10	0.27785	T	0.31	.	8.3238	0.32145	0.0:0.1535:0.0:0.8465	.	229;229	Q86UT6-2;Q86UT6	.;NLRX1_HUMAN	P	229	ENSP00000386851:L229P;ENSP00000292199:L229P;ENSP00000386858:L229P;ENSP00000387334:L229P;ENSP00000433442:L229P	ENSP00000292199:L229P	L	+	2	0	NLRX1	118549854	0.852000	0.29690	0.995000	0.50966	0.320000	0.28249	2.891000	0.48617	1.083000	0.41159	0.459000	0.35465	CTG		0.632	NLRX1-004	PUTATIVE	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335403.1	NM_170722		3	16	0	0	0	1	0	3	16					C	119044644	T	C	119044644	3	2	435	1	0	0	0	0	1	0	0	0	10485	1580	55	4	700	4	NLRX1	11	119044644	Missense_Mutation	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	12982	119044644	15961872	5454	26379											
NLRX1	79671	broad.mit.edu	37	chr11	119052898	119052898	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcacctgtccctgctgcacaCgggccttggggacgaaggcc	6	6	14	15	2	0	0	0	0	0	0	1	2	1	1	4	4	2	3	4	4	1	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:119052898C>T	ENST00000409109.1	+	9	3037	c.2450C>T	c.(2449-2451)aCg>aTg	p.T817M	NLRX1_ENST00000409991.1_Missense_Mutation_p.T817M|NLRX1_ENST00000292199.2_Missense_Mutation_p.T817M|NLRX1_ENST00000409265.4_Missense_Mutation_p.T817M|NLRX1_ENST00000525863.1_Missense_Mutation_p.T817M	NM_001282144.1	NP_001269073.1	Q86UT6	NLRX1_HUMAN	NLR family member X1	817	Required for the repression of MAVS- induced interferon signaling.				innate immune response (GO:0045087)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of inflammatory response (GO:0050728)|negative regulation of innate immune response (GO:0045824)|negative regulation of interferon-beta production (GO:0032688)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of RIG-I signaling pathway (GO:0039536)|negative regulation of type I interferon production (GO:0032480)|viral process (GO:0016032)	mitochondrial outer membrane (GO:0005741)	ATP binding (GO:0005524)			cervix(1)|endometrium(2)|kidney(2)|lung(10)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	22	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)		CTGCTGCACACGGGCCTTGGG	0.647																																						ENST00000409109.1																			0				cervix(1)|endometrium(2)|kidney(2)|lung(10)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	22						c.(2449-2451)aCg>aTg		NLR family member X1							78	77	77					11																	119052898		2200	4295	6495	SO:0001583	missense	79671				innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production	mitochondrial outer membrane	ATP binding	g.chr11:119052898C>T	AB094095	CCDS8416.1	11q23.3	2007-02-07			ENSG00000160703	ENSG00000160703		"Nucleotide-binding domain and leucine rich repeat containing"	29890	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat containing X1", "NOD-like receptor X1", "NLR family, X1"	611947				12766759	Standard	XM_005271669		Approved	NOD9, CLR11.3	uc001pvw.3	Q86UT6	OTTHUMG00000154476	ENST00000409109.1:c.2450C>T	11.37:g.119052898C>T	ENSP00000387334:p.Thr817Met					NLRX1_ENST00000525863.1_Missense_Mutation_p.T817M|NLRX1_ENST00000469103.2_3'UTR|NLRX1_ENST00000409991.1_Missense_Mutation_p.T817M|NLRX1_ENST00000409265.4_Missense_Mutation_p.T817M|NLRX1_ENST00000292199.2_Missense_Mutation_p.T817M	p.T817M			Q86UT6	NLRX1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)	9	3037	+	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)	817			Required for the repression of MAVS- induced interferon signaling.		A8K6Q1|B3KPK2|B3KTA2|Q7RTR3|Q96D51|Q9H724	Missense_Mutation	SNP	ENST00000409109.1	37	c.2450C>T	CCDS8416.1	.	.	.	.	.	.	.	.	.	.	C	24.6	4.545158	0.86022	.	.	ENSG00000160703	ENST00000409991;ENST00000292199;ENST00000409265;ENST00000409109;ENST00000525863	T;T;T;T;T	0.54071	0.59;0.59;0.59;0.59;0.59	4.78	3.86	0.44501	.	0.213030	0.37136	N	0.002228	T	0.66655	0.2811	L	0.52126	1.63	0.47308	D	0.999388	D;D	0.89917	1.0;1.0	D;P	0.91635	0.999;0.804	T	0.69796	-0.5048	10	0.62326	D	0.03	.	15.0331	0.71723	0.0:0.857:0.143:0.0	.	817;817	Q86UT6-2;Q86UT6	.;NLRX1_HUMAN	M	817	ENSP00000386851:T817M;ENSP00000292199:T817M;ENSP00000386858:T817M;ENSP00000387334:T817M;ENSP00000433442:T817M	ENSP00000292199:T817M	T	+	2	0	NLRX1	118558108	1.000000	0.71417	0.856000	0.33681	0.974000	0.67602	7.191000	0.77763	1.222000	0.43521	0.609000	0.83330	ACG		0.647	NLRX1-004	PUTATIVE	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335403.1	NM_170722		29	39	0	0	0	1	0	29	39					T	119052898	C	T	119052898	3	4	435	1	0	0	0	0	1	0	0	0	10485	536	19	1	2480	1	NLRX1	11	119052898	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	8254	119052898	15953618	5455	26380											
TRIM29	23650	broad.mit.edu	37	chr11	120008357	120008357	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	actccgagaaaatggacttgCgcagctcgcccttttcggca	9	9	10	13	4	0	1	0	0	0	1	3	3	1	2	2	2	2	3	2	2	2	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:120008357C>T	ENST00000341846.5	-	1	804	c.383G>A	c.(382-384)cGc>cAc	p.R128H		NM_012101.3	NP_036233.2	Q14134	TRI29_HUMAN	tripartite motif containing 29	128					negative regulation of protein localization to nucleus (GO:1900181)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)	sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	30		Breast(109;0.00117)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.37e-06)		AATGGACTTGCGCAGCTCGCC	0.637																																						ENST00000341846.5																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	30						c.(382-384)cGc>cAc		tripartite motif containing 29							106	119	115					11																	120008357		2203	4300	6503	SO:0001583	missense	23650				transcription from RNA polymerase II promoter	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr11:120008357C>T	AF230388	CCDS8428.1	11q23.3	2011-04-20	2011-01-25		ENSG00000137699	ENSG00000137699		"Tripartite motif containing / Tripartite motif containing"	17274	protein-coding gene	gene with protein product	"tripartite motif protein TRIM29", "ataxia-telangiectasia group D-associated protein"	610658	"tripartite motif-containing 29"			11331580	Standard	NM_012101		Approved	ATDC, FLJ36085	uc001pwz.3	Q14134	OTTHUMG00000140377	ENST00000341846.5:c.383G>A	11.37:g.120008357C>T	ENSP00000343129:p.Arg128His						p.R128H	NM_012101.3	NP_036233.2	Q14134	TRI29_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.37e-06)	1	804	-		Breast(109;0.00117)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	128					Q96AA9|Q9BZY7	Missense_Mutation	SNP	ENST00000341846.5	37	c.383G>A	CCDS8428.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.952586	0.73787	.	.	ENSG00000137699	ENST00000341846	T	0.52057	0.68	5.19	5.19	0.71726	.	0.000000	0.64402	D	0.000003	T	0.58337	0.2115	L	0.32530	0.975	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.55023	-0.8205	9	.	.	.	.	16.895	0.86098	0.0:1.0:0.0:0.0	.	128	Q14134	TRI29_HUMAN	H	128	ENSP00000343129:R128H	.	R	-	2	0	TRIM29	119513567	0.902000	0.30710	1.000000	0.80357	0.350000	0.29205	1.191000	0.32138	2.423000	0.82170	0.563000	0.77884	CGC		0.637	TRIM29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277108.2	NM_012101		45	130	0	0	0	1	0	45	130					T	120008357	C	T	120008357	3	4	435	1	0	0	0	0	1	0	0	0	16500	768	27	1	1419	1	TRIM29	11	120008357	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	955459	120008357	14998159	5456	26381											
ARHGEF12	23365	broad.mit.edu	37	chr11	120298824	120298824	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagggacgcccacctgggtcGccccagattccacttgccga	7	6	11	17	3	0	1	0	0	0	1	2	3	1	2	6	2	1	0	6	2	0	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:120298824G>A	ENST00000397843.2	+	8	619	c.453G>A	c.(451-453)tcG>tcA	p.S151S	ARHGEF12_ENST00000356641.3_Silent_p.S132S|ARHGEF12_ENST00000532993.1_Silent_p.S48S	NM_015313.2	NP_056128.1	Q9NZN5	ARHGC_HUMAN	Rho guanine nucleotide exchange factor (GEF) 12	151	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|G-protein coupled receptor signaling pathway (GO:0007186)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	G-protein coupled receptor binding (GO:0001664)|GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(5)|endometrium(6)|kidney(5)|large_intestine(13)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(2)	61		Breast(109;0.000813)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_hematologic(192;0.107)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.231)		CACCTGGGTCGCCCCAGATTC	0.517			T	MLL	AML																																	ENST00000397843.2				Dom	yes		11	11q23.3	23365	T	RHO guanine nucleotide exchange factor (GEF) 12 (LARG)			L	MLL		AML		0				NS(1)|breast(5)|endometrium(6)|kidney(5)|large_intestine(13)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(2)	61						c.(451-453)tcG>tcA		Rho guanine nucleotide exchange factor (GEF) 12							151	149	149					11																	120298824		1863	4108	5971	SO:0001819	synonymous_variant	23365				apoptosis|axon guidance|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	g.chr11:120298824G>A	AF180681	CCDS41727.1, CCDS55794.1	11q23.3	2011-11-16			ENSG00000196914	ENSG00000196914		"Rho guanine nucleotide exchange factors"	14193	protein-coding gene	gene with protein product		604763				10681437, 9205841	Standard	NM_001198665		Approved	KIAA0382, LARG	uc001pxl.2	Q9NZN5	OTTHUMG00000166143	ENST00000397843.2:c.453G>A	11.37:g.120298824G>A						ARHGEF12_ENST00000532993.1_Silent_p.S48S|ARHGEF12_ENST00000356641.3_Silent_p.S132S	p.S151S	NM_015313.2	NP_056128.1	Q9NZN5	ARHGC_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.231)	8	619	+		Breast(109;0.000813)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_hematologic(192;0.107)|all_neural(223;0.112)	151			PDZ.		O15086|Q6P526	Silent	SNP	ENST00000397843.2	37	c.453G>A	CCDS41727.1																																																																																				0.517	ARHGEF12-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388052.1	NM_015313		9	145	0	0	0	1	0	9	145					A	120298824	G	A	120298824	2	1	435	1	0	0	0	0	0	0	0	1	897	1074	38	1		1	ARHGEF12	11	120298824	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	290467	120298824	14707692	5457	26382											
ARHGEF12	23365	broad.mit.edu	37	chr11	120348948	120348948	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cctctgggaaatcagaggtaCgtgatctgtttgtggctgag	8	12	14	7	1	3	3	1	2	2	1	3	4	3	4	1	3	1	3	1	3	2	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:120348948C>T	ENST00000397843.2	+	37	3782	c.3616C>T	c.(3616-3618)Cgt>Tgt	p.R1206C	ARHGEF12_ENST00000356641.3_Missense_Mutation_p.R1187C|ARHGEF12_ENST00000532993.1_Missense_Mutation_p.R1103C	NM_015313.2	NP_056128.1	Q9NZN5	ARHGC_HUMAN	Rho guanine nucleotide exchange factor (GEF) 12	1206					apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|G-protein coupled receptor signaling pathway (GO:0007186)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	G-protein coupled receptor binding (GO:0001664)|GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(5)|endometrium(6)|kidney(5)|large_intestine(13)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(2)	61		Breast(109;0.000813)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_hematologic(192;0.107)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.231)		ATCAGAGGTACGTGATCTGTT	0.413			T	MLL	AML																																	ENST00000397843.2				Dom	yes		11	11q23.3	23365	T	RHO guanine nucleotide exchange factor (GEF) 12 (LARG)			L	MLL		AML		0				NS(1)|breast(5)|endometrium(6)|kidney(5)|large_intestine(13)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(2)	61						c.(3616-3618)Cgt>Tgt		Rho guanine nucleotide exchange factor (GEF) 12							93	86	88					11																	120348948		1889	4126	6015	SO:0001583	missense	23365				apoptosis|axon guidance|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	g.chr11:120348948C>T	AF180681	CCDS41727.1, CCDS55794.1	11q23.3	2011-11-16			ENSG00000196914	ENSG00000196914		"Rho guanine nucleotide exchange factors"	14193	protein-coding gene	gene with protein product		604763				10681437, 9205841	Standard	NM_001198665		Approved	KIAA0382, LARG	uc001pxl.2	Q9NZN5	OTTHUMG00000166143	ENST00000397843.2:c.3616C>T	11.37:g.120348948C>T	ENSP00000380942:p.Arg1206Cys					ARHGEF12_ENST00000532993.1_Missense_Mutation_p.R1103C|ARHGEF12_ENST00000356641.3_Missense_Mutation_p.R1187C	p.R1206C	NM_015313.2	NP_056128.1	Q9NZN5	ARHGC_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.231)	37	3782	+		Breast(109;0.000813)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_hematologic(192;0.107)|all_neural(223;0.112)	1206					O15086|Q6P526	Missense_Mutation	SNP	ENST00000397843.2	37	c.3616C>T	CCDS41727.1	.	.	.	.	.	.	.	.	.	.	C	13.95	2.388505	0.42308	.	.	ENSG00000196914	ENST00000397843;ENST00000356641;ENST00000532993	T;T;T	0.66099	-0.09;-0.19;-0.08	5.48	3.58	0.41010	.	0.799639	0.10802	N	0.632613	T	0.40546	0.1121	N	0.08118	0	0.09310	N	1	B;B	0.27498	0.18;0.113	B;B	0.11329	0.006;0.003	T	0.31696	-0.9934	10	0.72032	D	0.01	-0.0266	9.6058	0.39632	0.0803:0.1509:0.7687:0.0	.	1187;1206	Q9NZN5-2;Q9NZN5	.;ARHGC_HUMAN	C	1206;1187;1103	ENSP00000380942:R1206C;ENSP00000349056:R1187C;ENSP00000432984:R1103C	ENSP00000349056:R1187C	R	+	1	0	ARHGEF12	119854158	0.233000	0.23772	0.030000	0.17652	0.968000	0.65278	2.019000	0.41001	1.436000	0.47453	-0.165000	0.13383	CGT		0.413	ARHGEF12-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388052.1	NM_015313		31	48	0	0	0	1	0	31	48					T	120348948	C	T	120348948	3	4	435	1	0	0	0	0	1	0	0	0	897	536	19	1	3762	1	ARHGEF12	11	120348948	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	50124	120348948	14657568	5458	26383											
GRIK4	2900	broad.mit.edu	37	chr11	120744809	120744809	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gctgtttgatgctgtctatgCtgtggtgactgcggtgcagg	4	14	16	7	1	1	2	0	2	1	0	1	2	1	2	0	3	4	5	0	3	1	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:120744809C>A	ENST00000527524.2	+	10	1228	c.941C>A	c.(940-942)gCt>gAt	p.A314D	GRIK4_ENST00000438375.2_Missense_Mutation_p.A314D|RP11-640N11.2_ENST00000505153.2_RNA	NM_001282470.1	NP_001269399.1	Q16099	GRIK4_HUMAN	glutamate receptor, ionotropic, kainate 4	314					glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|response to corticosteroid (GO:0031960)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|nucleus (GO:0005634)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	extracellular-glutamate-gated ion channel activity (GO:0005234)|kainate selective glutamate receptor activity (GO:0015277)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(20)|liver(1)|lung(29)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	69		Breast(109;0.000868)|Medulloblastoma(222;0.0453)|all_neural(223;0.116)|all_hematologic(192;0.21)		BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.116)		GCTGTCTATGCTGTGGTGACT	0.642																																						ENST00000527524.2																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(20)|liver(1)|lung(29)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	69						c.(940-942)gCt>gAt		glutamate receptor, ionotropic, kainate 4	L-Glutamic Acid(DB00142)						62	54	57					11																	120744809		2203	4299	6502	SO:0001583	missense	2900				glutamate signaling pathway|synaptic transmission	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity	g.chr11:120744809C>A	S67803	CCDS8433.1	11q23.3	2012-08-29			ENSG00000149403	ENSG00000149403		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4582	protein-coding gene	gene with protein product		600282		GRIK			Standard	NM_001282470		Approved	GluK4, KA1	uc009zax.1	Q16099	OTTHUMG00000048255	ENST00000527524.2:c.941C>A	11.37:g.120744809C>A	ENSP00000435648:p.Ala314Asp					RP11-640N11.2_ENST00000505153.2_RNA|GRIK4_ENST00000438375.2_Missense_Mutation_p.A314D	p.A314D			Q16099	GRIK4_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.116)	10	1228	+		Breast(109;0.000868)|Medulloblastoma(222;0.0453)|all_neural(223;0.116)|all_hematologic(192;0.21)	314					A8K9L1	Missense_Mutation	SNP	ENST00000527524.2	37	c.941C>A	CCDS8433.1	.	.	.	.	.	.	.	.	.	.	c	19.33	3.806584	0.70682	.	.	ENSG00000149403	ENST00000527524;ENST00000438375	D;D	0.85339	-1.97;-1.97	4.93	4.93	0.64822	Extracellular ligand-binding receptor (1);	0.269624	0.42548	D	0.000689	D	0.84492	0.5484	L	0.34521	1.04	0.32038	N	0.598688	B;B	0.31256	0.316;0.316	B;P	0.45138	0.403;0.471	D	0.87774	0.2607	10	0.87932	D	0	.	14.1617	0.65450	0.0:0.85:0.15:0.0	.	314;314	A6H8K8;Q16099	.;GRIK4_HUMAN	D	314	ENSP00000435648:A314D;ENSP00000404063:A314D	ENSP00000404063:A314D	A	+	2	0	GRIK4	120250019	0.995000	0.38212	0.915000	0.36163	0.950000	0.60333	3.148000	0.50647	2.444000	0.82710	0.290000	0.19541	GCT		0.642	GRIK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109760.4	NM_014619		9	8	1	0	2.17888e-05	1	2.24846e-05	9	8					A	120744809	C	A	120744809	3	1	435	1	0	0	0	0	1	0	0	0	6776	797	28	5	971	5	GRIK4	11	120744809	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	395861	120744809	14261707	5459	26384											
TECTA	7007	broad.mit.edu	37	chr11	120980048	120980048	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgcacaatggaattcgaggCgagatctattacagagagac	14	8	12	7	2	1	3	0	0	1	3	2	7	1	4	0	2	2	1	0	2	4	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:120980048C>T	ENST00000392793.1	+	4	598	c.327C>T	c.(325-327)ggC>ggT	p.G109G	TECTA_ENST00000264037.2_Silent_p.G109G			O75443	TECTA_HUMAN	tectorin alpha	109	NIDO. {ECO:0000255|PROSITE- ProRule:PRU00570}.				cell-matrix adhesion (GO:0007160)|sensory perception of sound (GO:0007605)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		GAATTCGAGGCGAGATCTATT	0.507																																						ENST00000392793.1																		TECTA/TBCEL(2)	0				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135						c.(325-327)ggC>ggT		tectorin alpha							104	98	100					11																	120980048		2203	4299	6502	SO:0001819	synonymous_variant	7007				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix		g.chr11:120980048C>T	AF055136	CCDS8434.1	11q22-q24	2008-02-05			ENSG00000109927	ENSG00000109927			11720	protein-coding gene	gene with protein product		602574		DFNA12, DFNA8, DFNB21		9503015, 9590290	Standard	NM_005422		Approved		uc010rzo.2	O75443	OTTHUMG00000149908	ENST00000392793.1:c.327C>T	11.37:g.120980048C>T						TECTA_ENST00000264037.2_Silent_p.G109G	p.G109G			O75443	TECTA_HUMAN		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)	4	598	+	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)	109			NIDO.			Silent	SNP	ENST00000392793.1	37	c.327C>T	CCDS8434.1																																																																																				0.507	TECTA-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313850.1	NM_005422		16	30	0	0	0	1	0	16	30					T	120980048	C	T	120980048	2	4	435	1	0	0	0	0	0	0	0	1	15744	755	27	1		1	TECTA	11	120980048	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	235239	120980048	14026468	5460	26385											
TECTA	7007	broad.mit.edu	37	chr11	120983805	120983805	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acaccttccaggccgtcctaGtgtccgatggctcctataca	8	10	8	15	2	0	0	0	0	0	0	4	1	4	0	6	2	1	1	6	2	3	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:120983805G>A	ENST00000392793.1	+	5	782	c.511G>A	c.(511-513)Gtg>Atg	p.V171M	TECTA_ENST00000264037.2_Missense_Mutation_p.V171M			O75443	TECTA_HUMAN	tectorin alpha	171	NIDO. {ECO:0000255|PROSITE- ProRule:PRU00570}.				cell-matrix adhesion (GO:0007160)|sensory perception of sound (GO:0007605)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		GGCCGTCCTAGTGTCCGATGG	0.582											OREG0021430	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000392793.1																		TECTA/TBCEL(2)	0				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135						c.(511-513)Gtg>Atg		tectorin alpha							97	80	86					11																	120983805		2203	4299	6502	SO:0001583	missense	7007				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix		g.chr11:120983805G>A	AF055136	CCDS8434.1	11q22-q24	2008-02-05			ENSG00000109927	ENSG00000109927			11720	protein-coding gene	gene with protein product		602574		DFNA12, DFNA8, DFNB21		9503015, 9590290	Standard	NM_005422		Approved		uc010rzo.2	O75443	OTTHUMG00000149908	ENST00000392793.1:c.511G>A	11.37:g.120983805G>A	ENSP00000376543:p.Val171Met		OREG0021430	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1508	TECTA_ENST00000264037.2_Missense_Mutation_p.V171M	p.V171M			O75443	TECTA_HUMAN		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)	5	782	+	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)	171			NIDO.			Missense_Mutation	SNP	ENST00000392793.1	37	c.511G>A	CCDS8434.1	.	.	.	.	.	.	.	.	.	.	G	16.66	3.184438	0.57800	.	.	ENSG00000109927	ENST00000392793;ENST00000264037	T;T	0.73047	-0.71;-0.71	5.26	3.27	0.37495	Nidogen, extracellular domain (3);	0.214381	0.41001	N	0.000968	T	0.61502	0.2352	L	0.58510	1.815	0.35150	D	0.76971	B	0.12013	0.005	B	0.15870	0.014	T	0.66810	-0.5829	10	0.87932	D	0	.	4.4998	0.11858	0.4027:0.0:0.5972:0.0	.	171	O75443	TECTA_HUMAN	M	171	ENSP00000376543:V171M;ENSP00000264037:V171M	ENSP00000264037:V171M	V	+	1	0	TECTA	120489015	1.000000	0.71417	1.000000	0.80357	0.886000	0.51366	6.239000	0.72356	1.452000	0.47756	-0.145000	0.13849	GTG		0.582	TECTA-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313850.1	NM_005422		8	15	0	0	0	1	0	8	15					A	120983805	G	A	120983805	3	1	435	1	0	0	0	0	1	0	0	0	15744	1029	36	3	525	3	TECTA	11	120983805	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	3757	120983805	14022711	5461	26386											
TECTA	7007	broad.mit.edu	37	chr11	120996289	120996289	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagagctggcgtgtgtaccaCgcagactggaagtgcgactc	9	7	15	10	3	0	2	0	0	0	2	1	5	0	3	1	2	3	3	1	2	2	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:120996289C>T	ENST00000392793.1	+	8	1753	c.1482C>T	c.(1480-1482)caC>caT	p.H494H	TECTA_ENST00000264037.2_Silent_p.H494H			O75443	TECTA_HUMAN	tectorin alpha	494	VWFD 1. {ECO:0000255|PROSITE- ProRule:PRU00580}.				cell-matrix adhesion (GO:0007160)|sensory perception of sound (GO:0007605)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		GTGTGTACCACGCAGACTGGA	0.587																																						ENST00000392793.1																		TECTA/TBCEL(2)	0				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135						c.(1480-1482)caC>caT		tectorin alpha							77	81	80					11																	120996289		2203	4299	6502	SO:0001819	synonymous_variant	7007				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix		g.chr11:120996289C>T	AF055136	CCDS8434.1	11q22-q24	2008-02-05			ENSG00000109927	ENSG00000109927			11720	protein-coding gene	gene with protein product		602574		DFNA12, DFNA8, DFNB21		9503015, 9590290	Standard	NM_005422		Approved		uc010rzo.2	O75443	OTTHUMG00000149908	ENST00000392793.1:c.1482C>T	11.37:g.120996289C>T						TECTA_ENST00000264037.2_Silent_p.H494H	p.H494H			O75443	TECTA_HUMAN		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)	8	1753	+	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)	494			VWFD 1.			Silent	SNP	ENST00000392793.1	37	c.1482C>T	CCDS8434.1																																																																																				0.587	TECTA-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313850.1	NM_005422		36	47	0	0	0	1	0	36	47					T	120996289	C	T	120996289	2	4	435	1	0	0	0	0	0	0	0	1	15744	535	19	1		1	TECTA	11	120996289	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	12484	120996289	14010227	5462	26387											
TECTA	7007	broad.mit.edu	37	chr11	120996472	120996472	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agctgcgtgtatgacctgtgCagtgtgagggacaatggcac	9	9	15	8	1	0	2	0	2	0	0	0	3	0	3	1	2	3	4	1	2	2	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:120996472C>T	ENST00000392793.1	+	8	1936	c.1665C>T	c.(1663-1665)tgC>tgT	p.C555C	TECTA_ENST00000264037.2_Silent_p.C555C			O75443	TECTA_HUMAN	tectorin alpha	555					cell-matrix adhesion (GO:0007160)|sensory perception of sound (GO:0007605)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		ATGACCTGTGCAGTGTGAGGG	0.577																																						ENST00000392793.1																		TECTA/TBCEL(2)	0				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135						c.(1663-1665)tgC>tgT		tectorin alpha							109	101	104					11																	120996472		2203	4299	6502	SO:0001819	synonymous_variant	7007				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix		g.chr11:120996472C>T	AF055136	CCDS8434.1	11q22-q24	2008-02-05			ENSG00000109927	ENSG00000109927			11720	protein-coding gene	gene with protein product		602574		DFNA12, DFNA8, DFNB21		9503015, 9590290	Standard	NM_005422		Approved		uc010rzo.2	O75443	OTTHUMG00000149908	ENST00000392793.1:c.1665C>T	11.37:g.120996472C>T						TECTA_ENST00000264037.2_Silent_p.C555C	p.C555C			O75443	TECTA_HUMAN		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)	8	1936	+	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)	555						Silent	SNP	ENST00000392793.1	37	c.1665C>T	CCDS8434.1																																																																																				0.577	TECTA-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313850.1	NM_005422		32	45	0	0	0	1	0	32	45					T	120996472	C	T	120996472	2	4	435	1	0	0	0	0	0	0	0	1	15744	718	25	3		3	TECTA	11	120996472	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	183	120996472	14010044	5463	26388											
TECTA	7007	broad.mit.edu	37	chr11	121000865	121000865	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tctgtggcccggtatgcaagCgcctgcaagaatgcggacgt	8	8	14	11	4	1	1	0	0	1	1	1	2	1	2	2	3	4	3	2	3	4	1	rs138065050	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:121000865C>T	ENST00000392793.1	+	10	3157	c.2886C>T	c.(2884-2886)agC>agT	p.S962S	TECTA_ENST00000264037.2_Silent_p.S962S			O75443	TECTA_HUMAN	tectorin alpha	962					cell-matrix adhesion (GO:0007160)|sensory perception of sound (GO:0007605)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		GGTATGCAAGCGCCTGCAAGA	0.582													C|||	2	0.000399361	8e-04	0	5008	,	,		17165	0		0.001	False		,,,				2504	0					ENST00000392793.1																		TECTA/TBCEL(2)	0				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135						c.(2884-2886)agC>agT		tectorin alpha		C		2,4404	4.2+/-10.8	0,2,2201	58	61	60		2886	-4	0	11	dbSNP_134	60	1,8597	1.2+/-3.3	0,1,4298	no	coding-synonymous	TECTA	NM_005422.2		0,3,6499	TT,TC,CC		0.0116,0.0454,0.0231		962/2156	121000865	3,13001	2203	4299	6502	SO:0001819	synonymous_variant	7007				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix		g.chr11:121000865C>T	AF055136	CCDS8434.1	11q22-q24	2008-02-05			ENSG00000109927	ENSG00000109927			11720	protein-coding gene	gene with protein product		602574		DFNA12, DFNA8, DFNB21		9503015, 9590290	Standard	NM_005422		Approved		uc010rzo.2	O75443	OTTHUMG00000149908	ENST00000392793.1:c.2886C>T	11.37:g.121000865C>T						TECTA_ENST00000264037.2_Silent_p.S962S	p.S962S			O75443	TECTA_HUMAN		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)	10	3157	+	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)	962						Silent	SNP	ENST00000392793.1	37	c.2886C>T	CCDS8434.1																																																																																				0.582	TECTA-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313850.1	NM_005422		16	31	0	0	0	1	0	16	31					T	121000865	C	T	121000865	2	4	435	1	0	0	0	0	0	0	0	1	15744	767	27	1		1	TECTA	11	121000865	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	4393	121000865	14005651	5464	26389											
TECTA	7007	broad.mit.edu	37	chr11	121028673	121028673	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtgcgctgcgcaacggggtgCgcggctgcttcagcaccaag	6	6	16	13	5	1	0	1	0	0	0	1	0	1	0	1	3	6	5	1	3	2	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:121028673C>T	ENST00000392793.1	+	14	4700	c.4429C>T	c.(4429-4431)Cgc>Tgc	p.R1477C	TECTA_ENST00000264037.2_Missense_Mutation_p.R1477C			O75443	TECTA_HUMAN	tectorin alpha	1477					cell-matrix adhesion (GO:0007160)|sensory perception of sound (GO:0007605)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		CAACGGGGTGCGCGGCTGCTT	0.687																																						ENST00000392793.1																		TECTA/TBCEL(2)	0				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135						c.(4429-4431)Cgc>Tgc		tectorin alpha							40	37	38					11																	121028673		2203	4298	6501	SO:0001583	missense	7007				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix		g.chr11:121028673C>T	AF055136	CCDS8434.1	11q22-q24	2008-02-05			ENSG00000109927	ENSG00000109927			11720	protein-coding gene	gene with protein product		602574		DFNA12, DFNA8, DFNB21		9503015, 9590290	Standard	NM_005422		Approved		uc010rzo.2	O75443	OTTHUMG00000149908	ENST00000392793.1:c.4429C>T	11.37:g.121028673C>T	ENSP00000376543:p.Arg1477Cys					TECTA_ENST00000264037.2_Missense_Mutation_p.R1477C	p.R1477C			O75443	TECTA_HUMAN		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)	14	4700	+	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)	1477						Missense_Mutation	SNP	ENST00000392793.1	37	c.4429C>T	CCDS8434.1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.279312	0.80692	.	.	ENSG00000109927	ENST00000392793;ENST00000264037	T;T	0.05081	3.5;3.5	5.69	4.77	0.60923	von Willebrand factor, type D domain (1);VWC out (1);	0.000000	0.85682	D	0.000000	T	0.16981	0.0408	L	0.52905	1.665	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	T	0.00168	-1.1963	10	0.38643	T	0.18	.	9.054	0.36394	0.1476:0.7788:0.0:0.0736	.	1477	O75443	TECTA_HUMAN	C	1477	ENSP00000376543:R1477C;ENSP00000264037:R1477C	ENSP00000264037:R1477C	R	+	1	0	TECTA	120533883	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	3.623000	0.54224	2.687000	0.91594	0.462000	0.41574	CGC		0.687	TECTA-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313850.1	NM_005422		10	29	0	0	0	1	0	10	29					T	121028673	C	T	121028673	3	4	435	1	0	0	0	0	1	0	0	0	15744	768	27	1	4479	1	TECTA	11	121028673	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	27808	121028673	13977843	5465	26390											
SC5DL	6309	broad.mit.edu	37	chr11	121177112	121177112	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	taggattgtttgaacttgtcGttagtataatatctttcctc	9	19	7	6	1	1	1	0	1	1	0	4	2	2	2	1	1	1	3	1	1	6	9	rs35536707		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:121177112G>A	ENST00000392789.2	+	4	598	c.361G>A	c.(361-363)Gtt>Att	p.V121I	SC5D_ENST00000528991.1_Intron|SC5D_ENST00000264027.4_Missense_Mutation_p.V121I|SC5D_ENST00000534230.1_Missense_Mutation_p.V121I	NM_001024956.2	NP_001020127.1	O75845	SC5D_HUMAN	sterol-C5-desaturase	121					cholesterol biosynthetic process (GO:0006695)|cholesterol biosynthetic process via lathosterol (GO:0033490)|fatty acid biosynthetic process (GO:0006633)|lipid metabolic process (GO:0006629)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	C-5 sterol desaturase activity (GO:0000248)|iron ion binding (GO:0005506)|lathosterol oxidase activity (GO:0050046)										TGAACTTGTCGTTAGTATAAT	0.378																																						ENST00000264027.4																			0											c.(361-363)Gtt>Att		sterol-C5-desaturase							184	168	174					11																	121177112		2203	4298	6501	SO:0001583	missense	6309							g.chr11:121177112G>A		CCDS8435.1	11q23.3	2013-03-04	2013-03-04	2013-03-04	ENSG00000109929	ENSG00000109929	1.14.21.6	"Fatty acid hydroxylase domain containing"	10547	protein-coding gene	gene with protein product	"lathosterol oxidase"	602286	"sterol-C5-desaturase (fungal ERG3, delta-5-desaturase)-like", "sterol-C5-desaturase (ERG3 delta-5-desaturase homolog, fungal)-like", "sterol-C5-desaturase (ERG3 delta-5-desaturase homolog, S. cerevisiae)-like"	SC5DL		8976377	Standard	NM_006918		Approved		uc001pxu.3	O75845	OTTHUMG00000166068	ENST00000392789.2:c.361G>A	11.37:g.121177112G>A	ENSP00000376539:p.Val121Ile					SC5D_ENST00000534230.1_Missense_Mutation_p.V121I|SC5D_ENST00000528991.1_Intron|SC5D_ENST00000392789.2_Missense_Mutation_p.V121I	p.V121I	NM_006918.4	NP_008849.2					4	735	+								O00119|Q6GTM5|Q9UK15	Missense_Mutation	SNP	ENST00000392789.2	37	c.361G>A	CCDS8435.1	.	.	.	.	.	.	.	.	.	.	G	6.551	0.469947	0.12461	.	.	ENSG00000109929	ENST00000264027;ENST00000527762;ENST00000534230;ENST00000392789	D;D;D;D	0.85556	-1.62;-1.63;-2.0;-1.62	5.61	-6.58	0.01836	.	1.004860	0.07999	N	0.988451	T	0.58736	0.2143	N	0.04203	-0.255	0.09310	N	1	B;B	0.09022	0.002;0.002	B;B	0.04013	0.001;0.001	T	0.46978	-0.9152	10	0.30078	T	0.28	-21.7177	0.5659	0.00687	0.2503:0.1474:0.2417:0.3606	rs35536707	121;121	O75845;E9PQ91	SC5D_HUMAN;.	I	121;128;121;121	ENSP00000264027:V121I;ENSP00000436290:V128I;ENSP00000432550:V121I;ENSP00000376539:V121I	ENSP00000264027:V121I	V	+	1	0	SC5DL	120682322	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.290000	0.08354	-0.911000	0.03843	-1.094000	0.02160	GTT		0.378	SC5D-002	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000387702.1	NM_001024956		8	20	0	0	0	1	0	8	20					A	121177112	G	A	121177112	3	1	435	1	0	0	0	0	1	0	0	0	13866	1145	40	1	371	1	SC5DL	11	121177112	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	148439	121177112	13829404	5466	26391											
SORL1	6653	broad.mit.edu	37	chr11	121454219	121454219	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cagtgccgaaacgggcactgCatcccccagcggtgggcgtg	7	5	15	14	4	0	0	0	0	0	0	1	1	1	0	3	3	4	2	3	3	1	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:121454219C>T	ENST00000260197.7	+	26	3762	c.3633C>T	c.(3631-3633)tgC>tgT	p.C1211C	SORL1_ENST00000534286.1_Silent_p.C121C|SORL1_ENST00000525532.1_Silent_p.C155C|SORL1_ENST00000532694.1_Silent_p.C57C	NM_003105.5	NP_003096	Q92673	SORL_HUMAN	sortilin-related receptor, L(DLR class) A repeats containing	1211	LDL-receptor class A 4. {ECO:0000255|PROSITE-ProRule:PRU00124}.				cell death (GO:0008219)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)|negative regulation of aspartic-type endopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902960)|negative regulation of beta-amyloid formation (GO:1902430)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of metalloendopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902963)|negative regulation of neurofibrillary tangle assembly (GO:1902997)|negative regulation of neurogenesis (GO:0050768)|negative regulation of neuron death (GO:1901215)|negative regulation of protein binding (GO:0032091)|negative regulation of protein oligomerization (GO:0032460)|negative regulation of tau-protein kinase activity (GO:1902948)|positive regulation of choline O-acetyltransferase activity (GO:1902771)|positive regulation of early endosome to recycling endosome transport (GO:1902955)|positive regulation of endocytic recycling (GO:2001137)|positive regulation of ER to Golgi vesicle-mediated transport (GO:1902953)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein exit from endoplasmic reticulum (GO:0070863)|positive regulation of protein localization to early endosome (GO:1902966)|post-Golgi vesicle-mediated transport (GO:0006892)|protein maturation (GO:0051604)|protein retention in Golgi apparatus (GO:0045053)|protein targeting (GO:0006605)|protein targeting to Golgi (GO:0000042)|protein targeting to lysosome (GO:0006622)|receptor-mediated endocytosis (GO:0006898)|regulation of smooth muscle cell migration (GO:0014910)|signal transduction (GO:0007165)	early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi cisterna (GO:0031985)|integral component of plasma membrane (GO:0005887)|low-density lipoprotein particle (GO:0034362)|membrane (GO:0016020)|multivesicular body (GO:0005771)|neuronal cell body (GO:0043025)|nuclear envelope lumen (GO:0005641)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802)	ADP-ribosylation factor binding (GO:0030306)|beta-amyloid binding (GO:0001540)|low-density lipoprotein particle binding (GO:0030169)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		ACGGGCACTGCATCCCCCAGC	0.577																																						ENST00000260197.7																			0				NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91						c.(3631-3633)tgC>tgT		sortilin-related receptor, L(DLR class) A repeats containing							115	91	99					11																	121454219		2203	4299	6502	SO:0001819	synonymous_variant	6653				cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity	g.chr11:121454219C>T	Y08110	CCDS8436.1	11q23.2-q24.4	2014-06-05	2011-01-25		ENSG00000137642	ENSG00000137642		"Fibronectin type III domain containing"	11185	protein-coding gene	gene with protein product	"LDLR relative with 11 ligand-binding repeats"	602005	"chromosome 11 open reading frame 32", "sortilin-related receptor, L(DLR class) A repeats-containing"	C11orf32		9157966, 8940146	Standard	NM_003105		Approved	gp250, LR11, LRP9, SorLA, SorLA-1	uc001pxx.3	Q92673	OTTHUMG00000166057	ENST00000260197.7:c.3633C>T	11.37:g.121454219C>T						SORL1_ENST00000525532.1_Silent_p.C155C|SORL1_ENST00000532694.1_Silent_p.C57C|SORL1_ENST00000534286.1_Silent_p.C121C	p.C1211C	NM_003105.5	NP_003096.1	Q92673	SORL_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)	26	3762	+		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)	1211			LDL-receptor class A 4.		B2RNX7|Q92856	Silent	SNP	ENST00000260197.7	37	c.3633C>T	CCDS8436.1																																																																																				0.577	SORL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387626.2	NM_003105		6	13	0	0	0	1	0	6	13					T	121454219	C	T	121454219	2	4	435	1	0	0	0	0	0	0	0	1	14934	718	25	3		3	SORL1	11	121454219	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	277107	121454219	13552297	5467	26392											
SORL1	6653	broad.mit.edu	37	chr11	121458730	121458730	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctctggatcccttacagaGcccctctgtacgcacttcat	7	13	6	15	1	3	1	1	0	2	1	5	2	4	2	3	1	3	2	3	1	2	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:121458730G>A	ENST00000260197.7	+	28	3945	c.3816G>A	c.(3814-3816)gaG>gaA	p.E1272E	SORL1_ENST00000534286.1_Splice_Site_p.E182E|SORL1_ENST00000525532.1_Splice_Site_p.E216E|SORL1_ENST00000527934.1_5'Flank|SORL1_ENST00000532694.1_Splice_Site_p.E118E	NM_003105.5	NP_003096	Q92673	SORL_HUMAN	sortilin-related receptor, L(DLR class) A repeats containing	1272	LDL-receptor class A 5. {ECO:0000255|PROSITE-ProRule:PRU00124}.				cell death (GO:0008219)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)|negative regulation of aspartic-type endopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902960)|negative regulation of beta-amyloid formation (GO:1902430)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of metalloendopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902963)|negative regulation of neurofibrillary tangle assembly (GO:1902997)|negative regulation of neurogenesis (GO:0050768)|negative regulation of neuron death (GO:1901215)|negative regulation of protein binding (GO:0032091)|negative regulation of protein oligomerization (GO:0032460)|negative regulation of tau-protein kinase activity (GO:1902948)|positive regulation of choline O-acetyltransferase activity (GO:1902771)|positive regulation of early endosome to recycling endosome transport (GO:1902955)|positive regulation of endocytic recycling (GO:2001137)|positive regulation of ER to Golgi vesicle-mediated transport (GO:1902953)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein exit from endoplasmic reticulum (GO:0070863)|positive regulation of protein localization to early endosome (GO:1902966)|post-Golgi vesicle-mediated transport (GO:0006892)|protein maturation (GO:0051604)|protein retention in Golgi apparatus (GO:0045053)|protein targeting (GO:0006605)|protein targeting to Golgi (GO:0000042)|protein targeting to lysosome (GO:0006622)|receptor-mediated endocytosis (GO:0006898)|regulation of smooth muscle cell migration (GO:0014910)|signal transduction (GO:0007165)	early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi cisterna (GO:0031985)|integral component of plasma membrane (GO:0005887)|low-density lipoprotein particle (GO:0034362)|membrane (GO:0016020)|multivesicular body (GO:0005771)|neuronal cell body (GO:0043025)|nuclear envelope lumen (GO:0005641)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802)	ADP-ribosylation factor binding (GO:0030306)|beta-amyloid binding (GO:0001540)|low-density lipoprotein particle binding (GO:0030169)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		CCCTTACAGAGCCCCTCTGTA	0.587																																						ENST00000260197.7																			0				NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91						c.e28-1		sortilin-related receptor, L(DLR class) A repeats containing							128	109	116					11																	121458730		2203	4299	6502	SO:0001630	splice_region_variant	6653				cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity	g.chr11:121458730G>A	Y08110	CCDS8436.1	11q23.2-q24.4	2014-06-05	2011-01-25		ENSG00000137642	ENSG00000137642		"Fibronectin type III domain containing"	11185	protein-coding gene	gene with protein product	"LDLR relative with 11 ligand-binding repeats"	602005	"chromosome 11 open reading frame 32", "sortilin-related receptor, L(DLR class) A repeats-containing"	C11orf32		9157966, 8940146	Standard	NM_003105		Approved	gp250, LR11, LRP9, SorLA, SorLA-1	uc001pxx.3	Q92673	OTTHUMG00000166057	ENST00000260197.7:c.3815-1G>A	11.37:g.121458730G>A						SORL1_ENST00000525532.1_Splice_Site_p.E216_splice|SORL1_ENST00000532694.1_Splice_Site_p.E118_splice|SORL1_ENST00000534286.1_Splice_Site_p.E182_splice	p.E1272_splice	NM_003105.5	NP_003096.1	Q92673	SORL_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)	28	3945	+		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)	1272			LDL-receptor class A 5.		B2RNX7|Q92856	Splice_Site	SNP	ENST00000260197.7	37	c.3814_splice	CCDS8436.1																																																																																				0.587	SORL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387626.2	NM_003105	Silent	11	24	0	0	0	1	0	11	24					A	121458730	G	A	121458730	5	1	435	1	0	0	0	0	0	0	1	0	14934	985	34	3	3926	3	SORL1	11	121458730	Splice_Site	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	4511	121458730	13547786	5468	26393											
SORL1	6653	broad.mit.edu	37	chr11	121475005	121475005	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gacggcttcctggactgctcGgacgagagcgatgaaaaggc	10	6	15	10	4	0	2	0	1	0	1	2	7	1	4	1	4	2	2	1	4	2	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:121475005G>A	ENST00000260197.7	+	33	4752	c.4623G>A	c.(4621-4623)tcG>tcA	p.S1541S	SORL1_ENST00000534286.1_Silent_p.S451S|SORL1_ENST00000525532.1_Silent_p.S485S|SORL1_ENST00000527934.1_Silent_p.S156S|SORL1_ENST00000532694.1_Silent_p.S387S	NM_003105.5	NP_003096	Q92673	SORL_HUMAN	sortilin-related receptor, L(DLR class) A repeats containing	1541	LDL-receptor class A 11. {ECO:0000255|PROSITE-ProRule:PRU00124}.				cell death (GO:0008219)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)|negative regulation of aspartic-type endopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902960)|negative regulation of beta-amyloid formation (GO:1902430)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of metalloendopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902963)|negative regulation of neurofibrillary tangle assembly (GO:1902997)|negative regulation of neurogenesis (GO:0050768)|negative regulation of neuron death (GO:1901215)|negative regulation of protein binding (GO:0032091)|negative regulation of protein oligomerization (GO:0032460)|negative regulation of tau-protein kinase activity (GO:1902948)|positive regulation of choline O-acetyltransferase activity (GO:1902771)|positive regulation of early endosome to recycling endosome transport (GO:1902955)|positive regulation of endocytic recycling (GO:2001137)|positive regulation of ER to Golgi vesicle-mediated transport (GO:1902953)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein exit from endoplasmic reticulum (GO:0070863)|positive regulation of protein localization to early endosome (GO:1902966)|post-Golgi vesicle-mediated transport (GO:0006892)|protein maturation (GO:0051604)|protein retention in Golgi apparatus (GO:0045053)|protein targeting (GO:0006605)|protein targeting to Golgi (GO:0000042)|protein targeting to lysosome (GO:0006622)|receptor-mediated endocytosis (GO:0006898)|regulation of smooth muscle cell migration (GO:0014910)|signal transduction (GO:0007165)	early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi cisterna (GO:0031985)|integral component of plasma membrane (GO:0005887)|low-density lipoprotein particle (GO:0034362)|membrane (GO:0016020)|multivesicular body (GO:0005771)|neuronal cell body (GO:0043025)|nuclear envelope lumen (GO:0005641)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802)	ADP-ribosylation factor binding (GO:0030306)|beta-amyloid binding (GO:0001540)|low-density lipoprotein particle binding (GO:0030169)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		TGGACTGCTCGGACGAGAGCG	0.667																																						ENST00000260197.7																			0				NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91						c.(4621-4623)tcG>tcA		sortilin-related receptor, L(DLR class) A repeats containing							78	71	73					11																	121475005		2203	4299	6502	SO:0001819	synonymous_variant	6653				cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity	g.chr11:121475005G>A	Y08110	CCDS8436.1	11q23.2-q24.4	2014-06-05	2011-01-25		ENSG00000137642	ENSG00000137642		"Fibronectin type III domain containing"	11185	protein-coding gene	gene with protein product	"LDLR relative with 11 ligand-binding repeats"	602005	"chromosome 11 open reading frame 32", "sortilin-related receptor, L(DLR class) A repeats-containing"	C11orf32		9157966, 8940146	Standard	NM_003105		Approved	gp250, LR11, LRP9, SorLA, SorLA-1	uc001pxx.3	Q92673	OTTHUMG00000166057	ENST00000260197.7:c.4623G>A	11.37:g.121475005G>A						SORL1_ENST00000525532.1_Silent_p.S485S|SORL1_ENST00000527934.1_Silent_p.S156S|SORL1_ENST00000532694.1_Silent_p.S387S|SORL1_ENST00000534286.1_Silent_p.S451S	p.S1541S	NM_003105.5	NP_003096.1	Q92673	SORL_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)	33	4752	+		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)	1541			LDL-receptor class A 11.		B2RNX7|Q92856	Silent	SNP	ENST00000260197.7	37	c.4623G>A	CCDS8436.1																																																																																				0.667	SORL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387626.2	NM_003105		10	23	0	0	0	1	0	10	23					A	121475005	G	A	121475005	2	1	435	1	0	0	0	0	0	0	0	1	14934	1103	39	2		2	SORL1	11	121475005	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	16275	121475005	13531511	5469	26394											
UBASH3B	84959	broad.mit.edu	37	chr11	122680579	122680579	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcttcaactggagagagacCttgcttcaagaataaaccac	14	8	9	10	0	2	3	2	0	0	3	2	5	2	3	2	2	3	2	2	2	5	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:122680579C>A	ENST00000284273.5	+	14	2310	c.1935C>A	c.(1933-1935)acC>acA	p.T645T		NM_032873.4	NP_116262.2	Q8TF42	UBS3B_HUMAN	ubiquitin associated and SH3 domain containing B	645	Protein tyrosine phosphatase. {ECO:0000250}.				negative regulation of platelet aggregation (GO:0090331)|negative regulation of protein kinase activity (GO:0006469)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein tyrosine phosphatase activity (GO:0004725)			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(11)|prostate(1)|skin(2)|stomach(2)	26		Breast(109;0.00254)|Medulloblastoma(222;0.00877)|Lung NSC(97;0.0183)|all_lung(97;0.0186)|all_neural(223;0.0381)|all_hematologic(192;0.104)		BRCA - Breast invasive adenocarcinoma(274;1.37e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.0463)		GGAGAGAGACCTTGCTTCAAG	0.458																																						ENST00000284273.5																			0				breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(11)|prostate(1)|skin(2)|stomach(2)	26						c.(1933-1935)acC>acA		ubiquitin associated and SH3 domain containing B							82	83	83					11																	122680579		2202	4299	6501	SO:0001819	synonymous_variant	84959					cytoplasm|nucleus	protein tyrosine phosphatase activity	g.chr11:122680579C>A	AB075839	CCDS31694.1	11q24.1	2010-04-28	2010-04-28		ENSG00000154127	ENSG00000154127			29884	protein-coding gene	gene with protein product	"SH3 domain-containing 70 kDa protein, suppressor of T-cell receptor signaling 1, nm23-phosphorylated unknown substrate"	609201				11853319, 12370296	Standard	NM_032873		Approved	KIAA1959, STS-1	uc001pyi.4	Q8TF42	OTTHUMG00000166025	ENST00000284273.5:c.1935C>A	11.37:g.122680579C>A							p.T645T	NM_032873.4	NP_116262.2	Q8TF42	UBS3B_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.37e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.0463)	14	2310	+		Breast(109;0.00254)|Medulloblastoma(222;0.00877)|Lung NSC(97;0.0183)|all_lung(97;0.0186)|all_neural(223;0.0381)|all_hematologic(192;0.104)	645			Protein tyrosine phosphatase (By similarity).		Q53GT5|Q53GT8|Q8NBV7|Q96IG9|Q96NZ2	Silent	SNP	ENST00000284273.5	37	c.1935C>A	CCDS31694.1																																																																																				0.458	UBASH3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387499.1	NM_032873		17	34	1	0	8.28177e-16	1	9.07663e-16	17	34					A	122680579	C	A	122680579	2	1	435	1	0	0	0	0	0	0	0	1	16837	668	24	5		5	UBASH3B	11	122680579	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	1205574	122680579	12325937	5470	26395											
ASAM	79827	broad.mit.edu	37	chr11	122944221	122944221	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgctctggctggggatcatGctgggtgtggtttctgcttt	2	16	15	8	0	3	0	1	0	2	0	3	1	3	1	0	5	3	5	0	5	0	2	rs138871742		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:122944221G>A	ENST00000448775.2	-	7	1423	c.1083C>T	c.(1081-1083)agC>agT	p.S361S	CLMP_ENST00000530371.1_5'UTR	NM_024769.2	NP_079045.1	Q9H6B4	CLMP_HUMAN	CXADR-like membrane protein	361					digestive tract development (GO:0048565)	cell surface (GO:0009986)|cytoplasmic microtubule (GO:0005881)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)				endometrium(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	14						TGGGGATCATGCTGGGTGTGG	0.532																																						ENST00000448775.2																			0				endometrium(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	14						c.(1081-1083)agC>agT		CXADR-like membrane protein		G		0,4404		0,0,2202	297	277	284		1083	5.4	1	11	dbSNP_134	284	1,8597	1.2+/-3.3	0,1,4298	no	coding-synonymous	CLMP	NM_024769.2		0,1,6500	AA,AG,GG		0.0116,0.0,0.0077		361/374	122944221	1,13001	2202	4299	6501	SO:0001819	synonymous_variant	79827					integral to membrane|tight junction		g.chr11:122944221G>A	BC009371	CCDS8441.1	11q24	2013-01-29			ENSG00000166250	ENSG00000166250		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	24039	protein-coding gene	gene with protein product	"adipocyte-specific adhesion molecule", "coxsackie- and adenovirus receptor-like membrane protein", "adipocyte adhesion molecule"	611693				12851705, 14573622	Standard	NM_024769		Approved	ASAM, FLJ22415, ACAM	uc001pyt.3	Q9H6B4		ENST00000448775.2:c.1083C>T	11.37:g.122944221G>A						CLMP_ENST00000530371.1_5'UTR	p.S361S	NM_024769.2	NP_079045.1	Q9H6B4	CLMP_HUMAN			7	1423	-			361						Silent	SNP	ENST00000448775.2	37	c.1083C>T	CCDS8441.1																																																																																				0.532	CLMP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387542.1	NM_024769		46	90	0	0	0	1	0	46	90					A	122944221	G	A	122944221	2	1	435	1	0	0	0	0	0	0	0	1	1009	1310	46	3		3	ASAM	11	122944221	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	263642	122944221	12062295	5471	26396											
ZNF202	7753	broad.mit.edu	37	chr11	123601449	123601449	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctcctggtagcggaagcgtcGgaagttctggtgggaggttt	6	11	17	7	3	1	0	0	0	1	0	3	3	2	3	1	6	2	3	1	6	3	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:123601449G>A	ENST00000529691.1	-	2	367	c.148C>T	c.(148-150)Cga>Tga	p.R50*	ZNF202_ENST00000530393.1_Nonsense_Mutation_p.R50*|ZNF202_ENST00000336139.4_Nonsense_Mutation_p.R50*			O95125	ZN202_HUMAN	zinc finger protein 202	50	SCAN box. {ECO:0000255|PROSITE- ProRule:PRU00187}.				lipid metabolic process (GO:0006629)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(4)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	30		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.03)		CGGAAGCGTCGGAAGTTCTGG	0.547																																						ENST00000336139.4																			0				endometrium(4)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	30						c.(148-150)Cga>Tga		zinc finger protein 202							102	101	101					11																	123601449		2202	4299	6501	SO:0001587	stop_gained	7753				lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter|viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr11:123601449G>A	AF027219	CCDS8443.1	11q23.3	2013-01-09				ENSG00000166261		"Zinc fingers, C2H2-type", "-", "-", "-"	12994	protein-coding gene	gene with protein product		603430				9790754	Standard	XM_005271659		Approved	ZKSCAN10, ZSCAN42	uc001pzd.1	O95125		ENST00000529691.1:c.148C>T	11.37:g.123601449G>A	ENSP00000433881:p.Arg50*					ZNF202_ENST00000529691.1_Nonsense_Mutation_p.R50*|ZNF202_ENST00000530393.1_Nonsense_Mutation_p.R50*	p.R50*			O95125	ZN202_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.03)	3	510	-		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	50			SCAN box.		B0LPH9|Q4JG21|Q9H1B9|Q9NSM4	Nonsense_Mutation	SNP	ENST00000529691.1	37	c.148C>T	CCDS8443.1	.	.	.	.	.	.	.	.	.	.	G	17.58	3.425313	0.62733	.	.	ENSG00000166261	ENST00000336139;ENST00000530393;ENST00000529691;ENST00000533463	.	.	.	4.7	3.77	0.43336	.	0.000000	0.41396	D	0.000889	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-15.5501	9.9193	0.41455	0.0:0.0:0.6292:0.3708	.	.	.	.	X	50	.	ENSP00000337724:R50X	R	-	1	2	ZNF202	123106659	1.000000	0.71417	0.988000	0.46212	0.464000	0.32679	1.622000	0.36997	1.177000	0.42855	0.555000	0.69702	CGA		0.547	ZNF202-003	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000387419.1	NM_003455		10	49	0	0	0	1	0	10	49					A	123601449	G	A	123601449	4	1	435	1	0	0	0	0	0	1	0	0	17760	1124	39	2	1822	2	ZNF202	11	123601449	Nonsense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	657228	123601449	11405067	5472	26397											
TMEM225	338661	broad.mit.edu	37	chr11	123753985	123753985	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	attctcagattccttacattCgttgtcagatttatggatgt	9	18	7	7	1	2	2	2	0	1	2	5	3	3	3	1	1	1	1	1	1	2	7	rs77654932		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:123753985C>T	ENST00000375026.2	-	4	754	c.538G>A	c.(538-540)Gaa>Aaa	p.E180K		NM_001013743.1	NP_001013765.1	Q6GV28	TM225_HUMAN	transmembrane protein 225	180					negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)		p.E180K(1)		endometrium(2)|kidney(2)|large_intestine(2)|lung(12)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)	28						TCCTTACATTCGTTGTCAGAT	0.443																																						ENST00000375026.2																			1	Substitution - Missense(1)	p.E180K(1)	large_intestine(1)	endometrium(2)|kidney(2)|large_intestine(2)|lung(12)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)	28						c.(538-540)Gaa>Aaa		transmembrane protein 225							110	102	105					11																	123753985		2202	4299	6501	SO:0001583	missense	338661					integral to membrane		g.chr11:123753985C>T	AY634366	CCDS31697.1	11q24.1	2014-06-13			ENSG00000204300	ENSG00000204300			32390	protein-coding gene	gene with protein product	"PMP22 claudin domain containing", "protein phosphatase 1, regulatory subunit 154"						Standard	XM_006718832		Approved	PMP22CD, PPP1R154	uc001pzi.3	Q6GV28	OTTHUMG00000165959	ENST00000375026.2:c.538G>A	11.37:g.123753985C>T	ENSP00000364166:p.Glu180Lys						p.E180K	NM_001013743.1	NP_001013765.1	Q6GV28	TM225_HUMAN			4	754	-			180						Missense_Mutation	SNP	ENST00000375026.2	37	c.538G>A	CCDS31697.1	.	.	.	.	.	.	.	.	.	.	C	11.13	1.546781	0.27652	.	.	ENSG00000204300	ENST00000375026;ENST00000528595	T;T	0.34472	1.39;1.36	3.31	-2.27	0.06846	.	1.519590	0.03921	N	0.283618	T	0.23649	0.0572	N	0.20986	0.625	0.09310	N	1	B	0.25105	0.118	B	0.14578	0.011	T	0.20107	-1.0285	10	0.38643	T	0.18	2.5938	7.8188	0.29276	0.0:0.3397:0.0:0.6603	.	180	Q6GV28	TM225_HUMAN	K	180;130	ENSP00000364166:E180K;ENSP00000431282:E130K	ENSP00000364166:E180K	E	-	1	0	TMEM225	123259195	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.601000	0.05687	-0.512000	0.06505	-0.345000	0.07892	GAA		0.443	TMEM225-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387260.1	NM_001013743		22	34	0	0	0	1	0	22	34					T	123753985	C	T	123753985	3	4	435	1	0	0	0	0	1	0	0	0	16144	893	31	2	143	2	TMEM225	11	123753985	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	152536	123753985	11252531	5473	26398											
OR10G8	219869	broad.mit.edu	37	chr11	123900355	123900355	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caacgccagcctactgacagCgttcatcctcatgggccttc	8	9	8	16	2	2	1	2	1	0	0	4	1	3	1	4	1	4	1	4	1	2	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:123900355C>T	ENST00000431524.1	+	1	59	c.26C>T	c.(25-27)gCg>gTg	p.A9V		NM_001004464.1	NP_001004464.1	Q8NGN5	O10G8_HUMAN	olfactory receptor, family 10, subfamily G, member 8	9						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(7)|large_intestine(2)|lung(21)|ovary(1)|prostate(5)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	44		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		CTACTGACAGCGTTCATCCTC	0.542																																						ENST00000431524.1																			0				breast(1)|endometrium(7)|large_intestine(2)|lung(21)|ovary(1)|prostate(5)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	44						c.(25-27)gCg>gTg		olfactory receptor, family 10, subfamily G, member 8							171	160	164					11																	123900355		2201	4299	6500	SO:0001583	missense	219869				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:123900355C>T	AB065755	CCDS31704.1	11q24.1	2012-08-09			ENSG00000234560	ENSG00000234560		"GPCR / Class A : Olfactory receptors"	14845	protein-coding gene	gene with protein product							Standard	NM_001004464		Approved		uc001pzp.1	Q8NGN5	OTTHUMG00000165968	ENST00000431524.1:c.26C>T	11.37:g.123900355C>T	ENSP00000389072:p.Ala9Val						p.A9V	NM_001004464.1	NP_001004464.1	Q8NGN5	O10G8_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)	1	59	+		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	9					B2RNJ3|Q6IEV2	Missense_Mutation	SNP	ENST00000431524.1	37	c.26C>T	CCDS31704.1	.	.	.	.	.	.	.	.	.	.	C	9.760	1.169881	0.21621	.	.	ENSG00000234560	ENST00000431524	T	0.01099	5.34	2.95	-0.058	0.13799	.	1.245330	0.05634	N	0.582270	T	0.00724	0.0024	N	0.03948	-0.315	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.47787	-0.9090	10	0.66056	D	0.02	.	2.6953	0.05133	0.3162:0.3192:0.0:0.3646	.	9	Q8NGN5	O10G8_HUMAN	V	9	ENSP00000389072:A9V	ENSP00000389072:A9V	A	+	2	0	OR10G8	123405565	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.257000	0.08745	0.116000	0.18110	-0.966000	0.02617	GCG		0.542	OR10G8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387270.1	NM_001004464		33	58	0	0	0	1	0	33	58					T	123900355	C	T	123900355	3	4	435	1	0	0	0	0	1	0	0	0	10903	768	27	1	28	1	OR10G8	11	123900355	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	146370	123900355	11106161	5474	26399											
OR10G8	219869	broad.mit.edu	37	chr11	123900990	123900990	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctgtcctatgtgtccatcGtctgttccatcctgcggatc	4	15	9	13	2	1	0	0	0	1	0	7	1	5	1	4	1	2	2	4	1	1	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:123900990G>A	ENST00000431524.1	+	1	694	c.661G>A	c.(661-663)Gtc>Atc	p.V221I		NM_001004464.1	NP_001004464.1	Q8NGN5	O10G8_HUMAN	olfactory receptor, family 10, subfamily G, member 8	221						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V221I(1)		breast(1)|endometrium(7)|large_intestine(2)|lung(21)|ovary(1)|prostate(5)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	44		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		TGTGTCCATCGTCTGTTCCAT	0.542																																						ENST00000431524.1																			1	Substitution - Missense(1)	p.V221I(1)	prostate(1)	breast(1)|endometrium(7)|large_intestine(2)|lung(21)|ovary(1)|prostate(5)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	44						c.(661-663)Gtc>Atc		olfactory receptor, family 10, subfamily G, member 8							171	148	156					11																	123900990		2201	4299	6500	SO:0001583	missense	219869				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:123900990G>A	AB065755	CCDS31704.1	11q24.1	2012-08-09			ENSG00000234560	ENSG00000234560		"GPCR / Class A : Olfactory receptors"	14845	protein-coding gene	gene with protein product							Standard	NM_001004464		Approved		uc001pzp.1	Q8NGN5	OTTHUMG00000165968	ENST00000431524.1:c.661G>A	11.37:g.123900990G>A	ENSP00000389072:p.Val221Ile						p.V221I	NM_001004464.1	NP_001004464.1	Q8NGN5	O10G8_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)	1	694	+		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	221					B2RNJ3|Q6IEV2	Missense_Mutation	SNP	ENST00000431524.1	37	c.661G>A	CCDS31704.1	.	.	.	.	.	.	.	.	.	.	G	0.010	-1.747167	0.00669	.	.	ENSG00000234560	ENST00000431524	T	0.00048	8.82	2.91	-0.148	0.13424	GPCR, rhodopsin-like superfamily (1);	0.317250	0.22424	N	0.060258	T	0.00073	0.0002	N	0.05534	-0.03	0.09310	N	1	B	0.15930	0.015	B	0.21360	0.034	T	0.16600	-1.0397	10	0.33940	T	0.23	.	3.2637	0.06858	0.4226:0.0:0.2966:0.2808	.	221	Q8NGN5	O10G8_HUMAN	I	221	ENSP00000389072:V221I	ENSP00000389072:V221I	V	+	1	0	OR10G8	123406200	0.000000	0.05858	0.019000	0.16419	0.001000	0.01503	-1.743000	0.01834	-0.156000	0.11079	-1.011000	0.02470	GTC		0.542	OR10G8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387270.1	NM_001004464		27	54	0	0	0	1	0	27	54					A	123900990	G	A	123900990	3	1	435	1	0	0	0	0	1	0	0	0	10903	1145	40	1	663	1	OR10G8	11	123900990	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	635	123900990	11105526	5475	26400											
SIAE	54414	broad.mit.edu	37	chr11	124530523	124530523	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tgctgagactctgcaaattaCctgtaacacagtcatctgca	12	11	7	11	0	3	1	1	1	2	1	3	2	3	1	1	0	5	4	1	0	3	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:124530523C>T	ENST00000263593.3	-	3	578		c.e3+1		SIAE_ENST00000545756.1_Splice_Site			Q9HAT2	SIAE_HUMAN	sialic acid acetylesterase						carbohydrate metabolic process (GO:0005975)|regulation of immune system process (GO:0002682)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	sialate O-acetylesterase activity (GO:0001681)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(2)	15	all_hematologic(175;0.215)	Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.63e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0243)		CTGCAAATTACCTGTAACACA	0.438																																						ENST00000263593.3																			0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(2)	15						c.e3+1		sialic acid acetylesterase							132	123	126					11																	124530523		2201	4299	6500	SO:0001630	splice_region_variant	54414					extracellular region|lysosome	carboxylesterase activity|sialate O-acetylesterase activity	g.chr11:124530523C>T	AF300796	CCDS8449.1, CCDS55795.1	11q24	2005-12-15	2005-12-15	2005-12-15		ENSG00000110013			18187	protein-coding gene	gene with protein product	"sialic acid-specific acetylesterase II"	610079	"Ysg2 homolog (mouse)"	YSG2		10464298	Standard	NM_001199922		Approved	CSE-C, MGC87009, LSE	uc001qan.3	Q9HAT2		ENST00000263593.3:c.405+1G>A	11.37:g.124530523C>T						SIAE_ENST00000545756.1_Splice_Site				Q9HAT2	SIAE_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.63e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0243)	3	578	-	all_hematologic(175;0.215)	Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)						B3KPB0|Q8IUT9|Q9HAU7|Q9NT71	Splice_Site	SNP	ENST00000263593.3	37		CCDS8449.1	.	.	.	.	.	.	.	.	.	.	C	16.80	3.221947	0.58560	.	.	ENSG00000110013	ENST00000263593;ENST00000545756	.	.	.	5.94	5.94	0.96194	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.1308	0.93406	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SIAE	124035733	1.000000	0.71417	1.000000	0.80357	0.636000	0.38137	4.906000	0.63293	2.807000	0.96579	0.591000	0.81541	.		0.438	SIAE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387070.1	NM_170601	Intron	25	50	0	0	0	1	0	25	50					T	124530523	C	T	124530523	5	4	435	1	0	0	0	0	0	0	1	0	14298	521	18	3	1197	3	SIAE	11	124530523	Splice_Site	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	629533	124530523	10475993	5476	26401											
ROBO3	64221	broad.mit.edu	37	chr11	124743643	124743643	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cagaacccagttcccctccgGgggctccctctcagccagtg	6	7	10	18	1	1	1	1	0	1	1	5	1	4	1	6	2	2	2	6	2	1	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:124743643G>A	ENST00000397801.1	+	11	1861	c.1669G>A	c.(1669-1671)Ggg>Agg	p.G557R	ROBO3_ENST00000538940.1_Missense_Mutation_p.G535R	NM_022370.3	NP_071765.2	Q96MS0	ROBO3_HUMAN	roundabout, axon guidance receptor, homolog 3 (Drosophila)	557					axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|neuron migration (GO:0001764)	axon (GO:0030424)|integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	35	all_hematologic(175;0.215)	Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|Breast(109;0.0481)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0296)		TTCCCCTCCGGGGGCTCCCTC	0.527																																						ENST00000397801.1																			0				breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	35						c.(1669-1671)Ggg>Agg		roundabout, axon guidance receptor, homolog 3 (Drosophila)							34	37	36					11																	124743643		1847	4083	5930	SO:0001583	missense	64221				axon midline choice point recognition	integral to membrane	receptor activity	g.chr11:124743643G>A	AK024697	CCDS44755.1	11q24	2013-02-11	2001-11-28		ENSG00000154134	ENSG00000154134		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	13433	protein-coding gene	gene with protein product		608630	"roundabout (axon guidance receptor, Drosophila) homolog 3", "horizontal gaze palsy with progressive scoliosis"	HGPPS		15105459	Standard	NM_022370		Approved	RBIG1, FLJ21044, HGPS	uc001qbc.3	Q96MS0	OTTHUMG00000165934	ENST00000397801.1:c.1669G>A	11.37:g.124743643G>A	ENSP00000380903:p.Gly557Arg					ROBO3_ENST00000538940.1_Missense_Mutation_p.G535R	p.G557R	NM_022370.3	NP_071765.2	Q96MS0	ROBO3_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0296)	11	1861	+	all_hematologic(175;0.215)	Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|Breast(109;0.0481)|all_neural(223;0.112)	557			Fibronectin type-III 1.			Missense_Mutation	SNP	ENST00000397801.1	37	c.1669G>A	CCDS44755.1	.	.	.	.	.	.	.	.	.	.	G	14.45	2.540044	0.45176	.	.	ENSG00000154134	ENST00000397801;ENST00000538940	D;D	0.83837	-1.77;-1.77	5.71	4.78	0.61160	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.172748	0.27631	N	0.018513	D	0.91116	0.7203	M	0.88640	2.97	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.91219	0.5005	10	0.62326	D	0.03	.	9.0224	0.36209	0.0784:0.1503:0.7713:0.0	.	557	Q96MS0	ROBO3_HUMAN	R	557;535	ENSP00000380903:G557R;ENSP00000441797:G535R	ENSP00000380903:G557R	G	+	1	0	ROBO3	124248853	1.000000	0.71417	0.559000	0.28332	0.066000	0.16364	4.864000	0.62990	1.361000	0.45981	0.563000	0.77884	GGG		0.527	ROBO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387091.1	XM_370663		10	11	0	0	0	1	0	10	11					A	124743643	G	A	124743643	3	1	435	1	0	0	0	0	1	0	0	0	13515	1232	43	3	1711	3	ROBO3	11	124743643	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	213120	124743643	10262873	5477	26402											
ROBO4	54538	broad.mit.edu	37	chr11	124766120	124766120	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggaaacccgggctgcgcggCtctccctatgtcctgcgctg	4	9	13	15	4	1	0	0	0	1	0	3	1	2	1	3	3	3	3	3	3	2	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:124766120C>A	ENST00000306534.3	-	4	1138	c.653G>T	c.(652-654)aGc>aTc	p.S218I	ROBO4_ENST00000533054.1_Missense_Mutation_p.S73I|ROBO4_ENST00000526899.1_5'UTR	NM_019055.5	NP_061928.4	Q8WZ75	ROBO4_HUMAN	roundabout, axon guidance receptor, homolog 4 (Drosophila)	218	Ig-like C2-type 2.				angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|negative regulation of cell migration (GO:0030336)|regulation of cell migration (GO:0030334)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			NS(2)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(42)|ovary(1)|prostate(4)|skin(5)|urinary_tract(3)	76	all_hematologic(175;0.215)	Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0301)		GGCTGCGCGGCTCTCCCTATG	0.612																																						ENST00000306534.3																			0				NS(2)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(42)|ovary(1)|prostate(4)|skin(5)|urinary_tract(3)	76						c.(652-654)aGc>aTc		roundabout, axon guidance receptor, homolog 4 (Drosophila)							82	82	82					11																	124766120		2201	4299	6500	SO:0001583	missense	54538				angiogenesis|cell differentiation	integral to membrane	receptor activity	g.chr11:124766120C>A	AF361473	CCDS8455.1, CCDS73409.1	11q24.2	2013-02-11	2011-12-09		ENSG00000154133	ENSG00000154133		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	17985	protein-coding gene	gene with protein product	"magic roundabout"	607528	"roundabout homolog 4 (Drosophila)"			11076864	Standard	NM_019055		Approved	FLJ20798, MRB, ECSM4	uc001qbg.3	Q8WZ75	OTTHUMG00000165936	ENST00000306534.3:c.653G>T	11.37:g.124766120C>A	ENSP00000304945:p.Ser218Ile					ROBO4_ENST00000526899.1_5'UTR|ROBO4_ENST00000533054.1_Missense_Mutation_p.S73I	p.S218I	NM_019055.5	NP_061928.4	Q8WZ75	ROBO4_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0301)	4	1138	-	all_hematologic(175;0.215)	Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224)	218			Ig-like C2-type 2.		A8K154|Q14DU7|Q8TEG1|Q96JV6|Q9H718|Q9NWJ8	Missense_Mutation	SNP	ENST00000306534.3	37	c.653G>T	CCDS8455.1	.	.	.	.	.	.	.	.	.	.	C	18.06	3.540149	0.65085	.	.	ENSG00000154133	ENST00000306534;ENST00000374963;ENST00000533054	T;T	0.68331	-0.32;-0.32	5.04	5.04	0.67666	Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.46758	D	0.000275	D	0.85860	0.5795	M	0.93241	3.395	0.53005	D	0.999963	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.88264	0.2925	10	0.54805	T	0.06	.	15.6032	0.76642	0.0:1.0:0.0:0.0	.	108;218	Q8WZ75-3;Q8WZ75	.;ROBO4_HUMAN	I	218;108;73	ENSP00000304945:S218I;ENSP00000437129:S73I	ENSP00000304945:S218I	S	-	2	0	ROBO4	124271330	1.000000	0.71417	1.000000	0.80357	0.026000	0.11368	4.532000	0.60608	2.765000	0.95021	0.650000	0.86243	AGC		0.612	ROBO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387111.1	NM_019055		20	33	1	0	5.35267e-07	1	5.59292e-07	20	33					A	124766120	C	A	124766120	3	1	435	1	0	0	0	0	1	0	0	0	13516	797	28	5	2430	5	ROBO4	11	124766120	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	22477	124766120	10240396	5478	26403											
HEPN1	641654	broad.mit.edu	37	chr11	124789867	124789867	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taggcggtggcatgggcatgTcctggctacacagcggccca	7	7	15	12	2	0	0	0	0	0	0	1	0	1	0	2	6	2	3	2	6	2	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:124789867T>C	ENST00000408930.5	+	1	722	c.221T>C	c.(220-222)gTc>gCc	p.V74A	HEPACAM_ENST00000298251.4_3'UTR	NM_001037558.2	NP_001032647.2	Q6WQI6	HEPN1_HUMAN	hepatocellular carcinoma, down-regulated 1	74						cytoplasm (GO:0005737)				large_intestine(1)|lung(1)|stomach(1)	3	all_hematologic(175;0.215)	Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0287)		CATGGGCATGTCCTGGCTACA	0.517																																						ENST00000408930.5																			0				large_intestine(1)|lung(1)|stomach(1)	3						c.(220-222)gTc>gCc		hepatocellular carcinoma, down-regulated 1							78	78	78					11																	124789867		1937	4148	6085	SO:0001583	missense	641654					cytoplasm		g.chr11:124789867T>C	BC148521	CCDS41729.1	11q24	2013-07-02	2011-02-11		ENSG00000221932	ENSG00000221932			34400	protein-coding gene	gene with protein product	"cancer susceptibility gene HEPN1"	611641	"HEPACAM opposite strand 1"			12971969, 23548416	Standard	NM_001037558		Approved		uc001qbj.1	Q6WQI6	OTTHUMG00000165939	ENST00000408930.5:c.221T>C	11.37:g.124789867T>C	ENSP00000386143:p.Val74Ala					HEPACAM_ENST00000298251.4_3'UTR	p.V74A	NM_001037558.2	NP_001032647.2	Q6WQI6	HEPN1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0287)	1	722	+	all_hematologic(175;0.215)	Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224)	74						Missense_Mutation	SNP	ENST00000408930.5	37	c.221T>C	CCDS41729.1	.	.	.	.	.	.	.	.	.	.	T	5.193	0.221140	0.09863	.	.	ENSG00000221932	ENST00000408930	T	0.55234	0.53	4.0	0.732	0.18283	.	.	.	.	.	T	0.39410	0.1077	.	.	.	0.09310	N	1	B	0.13145	0.007	B	0.09377	0.004	T	0.34527	-0.9825	8	0.87932	D	0	.	6.7313	0.23385	0.0:0.1686:0.4695:0.3619	.	74	Q6WQI6	HEPN1_HUMAN	A	74	ENSP00000386143:V74A	ENSP00000386143:V74A	V	+	2	0	HEPN1	124295077	0.000000	0.05858	0.000000	0.03702	0.036000	0.12997	0.210000	0.17455	0.035000	0.15519	-0.659000	0.03860	GTC		0.517	HEPN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387129.1	NM_001037558		32	41	0	0	0	1	0	32	41					C	124789867	T	C	124789867	3	2	435	1	0	0	0	0	1	0	0	0	7056	1667	58	4	223	4	HEPN1	11	124789867	Missense_Mutation	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	23747	124789867	10216649	5479	26404											
PKNOX2	63876	broad.mit.edu	37	chr11	125221244	125221244	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cccccgctctgacgatgatgGccacgcagaatgtcccgccc	7	6	10	18	4	1	3	0	2	1	1	2	4	2	3	5	1	0	2	5	1	1	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:125221244G>A	ENST00000298282.9	+	4	314	c.43G>A	c.(43-45)Gcc>Acc	p.A15T	PKNOX2_ENST00000530517.1_Intron|PKNOX2_ENST00000542175.1_5'UTR	NM_022062.2	NP_071345.2	Q96KN3	PKNX2_HUMAN	PBX/knotted 1 homeobox 2	15					regulation of transcription from RNA polymerase II promoter (GO:0006357)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(14)|ovary(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	29		Breast(109;0.00234)|all_lung(97;0.0191)|Lung NSC(97;0.0196)|Medulloblastoma(222;0.0447)|all_neural(223;0.116)		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.117)		GACGATGATGGCCACGCAGAA	0.647																																						ENST00000298282.9																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(14)|ovary(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	29						c.(43-45)Gcc>Acc		PBX/knotted 1 homeobox 2							36	41	39					11																	125221244		2095	4222	6317	SO:0001583	missense	63876					nucleus	sequence-specific DNA binding transcription factor activity	g.chr11:125221244G>A	AK023136	CCDS41730.1	11q24.2	2014-09-04			ENSG00000165495	ENSG00000165495		"Homeoboxes / TALE class"	16714	protein-coding gene	gene with protein product		613066				11549286	Standard	NM_022062		Approved		uc001qbu.3	Q96KN3	OTTHUMG00000165884	ENST00000298282.9:c.43G>A	11.37:g.125221244G>A	ENSP00000298282:p.Ala15Thr					PKNOX2_ENST00000542175.1_5'UTR|PKNOX2_ENST00000530517.1_Intron	p.A15T	NM_022062.2	NP_071345.2	Q96KN3	PKNX2_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.117)	4	314	+		Breast(109;0.00234)|all_lung(97;0.0191)|Lung NSC(97;0.0196)|Medulloblastoma(222;0.0447)|all_neural(223;0.116)	15					B7Z5I5|F5GZ15|Q63HL6|Q86XD1	Missense_Mutation	SNP	ENST00000298282.9	37	c.43G>A	CCDS41730.1	.	.	.	.	.	.	.	.	.	.	g	16.13	3.037058	0.54896	.	.	ENSG00000165495	ENST00000298282;ENST00000527238;ENST00000531212;ENST00000535518	T;T	0.48522	0.81;0.81	5.61	4.69	0.59074	.	0.061993	0.64402	D	0.000005	T	0.32793	0.0841	L	0.27053	0.805	0.80722	D	1	P	0.41673	0.759	B	0.33960	0.173	T	0.07849	-1.0751	10	0.31617	T	0.26	-13.0424	15.4991	0.75680	0.0:0.1392:0.8608:0.0	.	15	Q96KN3	PKNX2_HUMAN	T	15;15;15;3	ENSP00000298282:A15T;ENSP00000434255:A15T	ENSP00000298282:A15T	A	+	1	0	PKNOX2	124726454	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.960000	0.76036	1.339000	0.45563	0.651000	0.88453	GCC		0.647	PKNOX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386866.3			3	5	0	0	0	1	0	3	5					A	125221244	G	A	125221244	3	1	435	1	0	0	0	0	1	0	0	0	11983	1203	42	3	45	3	PKNOX2	11	125221244	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	431377	125221244	9785272	5480	26405											
ACRV1	56	broad.mit.edu	37	chr11	125547966	125547966	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagcgggctcacctgaagcAtgctcactctcagcatgttc	8	9	10	14	1	3	1	3	1	1	0	5	1	3	1	1	1	4	6	1	1	1	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:125547966A>G	ENST00000533904.1	-	2	621	c.279T>C	c.(277-279)caT>caC	p.H93H	ACRV1_ENST00000348856.3_Intron|ACRV1_ENST00000445562.1_Intron|ACRV1_ENST00000530048.1_Intron|ACRV1_ENST00000315608.3_Silent_p.H93H|ACRV1_ENST00000353070.1_Intron|ACRV1_ENST00000453509.1_Intron|ACRV1_ENST00000527795.1_Intron|ACRV1_ENST00000345274.1_Intron|ACRV1_ENST00000425431.1_Intron			P26436	ASPX_HUMAN	acrosomal vesicle protein 1	93	3 X 5 AA repeats of S-E-H-[GA]-S.|4 X 4 AA repeats of S-G-E-H.				multicellular organismal development (GO:0007275)	acrosomal vesicle (GO:0001669)				kidney(1)|large_intestine(3)|lung(2)	6	all_hematologic(175;0.177)	Breast(109;0.0021)|all_lung(97;0.0179)|Lung NSC(97;0.0185)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0713)		CACCTGAAGCATGCTCACTCT	0.542																																						ENST00000533904.1																			0				kidney(1)|large_intestine(3)|lung(2)	6						c.(277-279)caT>caC		acrosomal vesicle protein 1							96	82	87					11																	125547966		2201	4299	6500	SO:0001819	synonymous_variant	56				multicellular organismal development	acrosomal vesicle		g.chr11:125547966A>G	AK223335	CCDS8460.1, CCDS8461.1, CCDS44759.1, CCDS44761.1	11q24.2	2012-05-16			ENSG00000134940	ENSG00000134940			127	protein-coding gene	gene with protein product	"sperm protein 10"	102525				1693291, 8288254	Standard	NM_001612		Approved	SPACA2, SP-10, D11S4365	uc001qcs.3	P26436	OTTHUMG00000165854	ENST00000533904.1:c.279T>C	11.37:g.125547966A>G						ACRV1_ENST00000348856.3_Intron|ACRV1_ENST00000353070.1_Intron|ACRV1_ENST00000453509.1_Intron|ACRV1_ENST00000257382.2_Intron|ACRV1_ENST00000345274.1_Intron|ACRV1_ENST00000426183.1_Intron|ACRV1_ENST00000445562.1_Intron|ACRV1_ENST00000433875.1_Silent_p.H93H|ACRV1_ENST00000425431.1_Intron	p.H93H			P26436	ASPX_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0713)	2	621	-	all_hematologic(175;0.177)	Breast(109;0.0021)|all_lung(97;0.0179)|Lung NSC(97;0.0185)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	93			3 X 5 AA repeats of S-E-H-[GA]-S.|4 X 4 AA repeats of S-G-E-H.		Q53FF4	Silent	SNP	ENST00000533904.1	37	c.279T>C	CCDS8460.1																																																																																				0.542	ACRV1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386722.1	NM_001612		4	63	0	0	0	1	0	4	63					G	125547966	A	G	125547966	2	3	435	1	0	0	0	0	0	0	0	1	172	214	8	4		4	ACRV1	11	125547966	Silent	SNP	A	TCGA-XK-AAIW-01A-11D-A41K-08	326722	125547966	9458550	5481	26406											
HYLS1	219844	broad.mit.edu	37	chr11	125769528	125769528	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctctgaggcctcccaaagaCtccgaaagccagtgatgaag	12	7	10	12	1	1	4	0	3	1	1	4	5	3	4	4	1	1	0	4	1	3	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:125769528C>T	ENST00000425380.2	+	3	1046	c.265C>T	c.(265-267)Ctc>Ttc	p.L89F	PUS3_ENST00000227474.3_Intron|HYLS1_ENST00000526028.1_Missense_Mutation_p.L89F|HYLS1_ENST00000356438.3_Missense_Mutation_p.L89F	NM_001134793.1	NP_001128265.1	Q96M11	HYLS1_HUMAN	hydrolethalus syndrome 1	89						centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|endometrium(1)|large_intestine(3)|skin(3)|upper_aerodigestive_tract(1)	9	all_hematologic(175;0.177)	Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.131)|all_lung(97;0.139)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0446)		CTCCCAAAGACTCCGAAAGCC	0.483																																					Esophageal Squamous(172;2590 2636 8884 10471)	ENST00000425380.2																			0				breast(1)|endometrium(1)|large_intestine(3)|skin(3)|upper_aerodigestive_tract(1)	9						c.(265-267)Ctc>Ttc		hydrolethalus syndrome 1							70	74	73					11																	125769528		2201	4299	6500	SO:0001583	missense	219844					centrosome|nucleus		g.chr11:125769528C>T	AK057477	CCDS8467.1	11q24	2014-06-18				ENSG00000198331			26558	protein-coding gene	gene with protein product		610693				15843405	Standard	NM_145014		Approved	FLJ32915	uc009zbv.3	Q96M11		ENST00000425380.2:c.265C>T	11.37:g.125769528C>T	ENSP00000414884:p.Leu89Phe					HYLS1_ENST00000526028.1_Missense_Mutation_p.L89F|HYLS1_ENST00000356438.3_Missense_Mutation_p.L89F|PUS3_ENST00000227474.3_Intron	p.L89F	NM_001134793.1	NP_001128265.1	Q96M11	HYLS1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0446)	3	1046	+	all_hematologic(175;0.177)	Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.131)|all_lung(97;0.139)|all_neural(223;0.224)	89					B3KXI8|Q96BX9	Missense_Mutation	SNP	ENST00000425380.2	37	c.265C>T	CCDS8467.1	.	.	.	.	.	.	.	.	.	.	C	6.499	0.460263	0.12342	.	.	ENSG00000198331	ENST00000356438;ENST00000425380;ENST00000526028	T;T;T	0.64618	-0.11;-0.11;-0.11	5.65	1.48	0.22813	.	0.869605	0.09659	N	0.772744	T	0.42494	0.1205	L	0.36672	1.1	0.09310	N	0.999997	B	0.10296	0.003	B	0.08055	0.003	T	0.25813	-1.0121	10	0.09843	T	0.71	.	1.7173	0.02904	0.2252:0.4324:0.121:0.2214	.	89	Q96M11	HYLS1_HUMAN	F	89	ENSP00000348815:L89F;ENSP00000414884:L89F;ENSP00000436833:L89F	ENSP00000348815:L89F	L	+	1	0	HYLS1	125274738	0.000000	0.05858	0.990000	0.47175	0.969000	0.65631	-1.169000	0.03120	0.457000	0.26962	-0.150000	0.13652	CTC		0.483	HYLS1-002	PUTATIVE	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386733.1	NM_145014		29	28	0	0	0	1	0	29	28					T	125769528	C	T	125769528	3	4	435	1	0	0	0	0	1	0	0	0	7469	565	20	3	267	3	HYLS1	11	125769528	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	221562	125769528	9236988	5482	26407											
CDON	50937	broad.mit.edu	37	chr11	125864270	125864270	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgaatgggagtgttattgttActtgatggaatgtactaaaa	13	15	11	2	0	0	2	0	2	0	0	0	4	0	4	0	2	2	3	0	2	7	6			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:125864270A>G	ENST00000392693.3	-	14	2686	c.2559T>C	c.(2557-2559)agT>agC	p.S853S	CDON_ENST00000531738.1_Silent_p.S230S|CDON_ENST00000263577.7_Silent_p.S853S	NM_001243597.1|NM_016952.4	NP_001230526.1|NP_058648.4	Q4KMG0	CDON_HUMAN	cell adhesion associated, oncogene regulated	853	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				anterior/posterior pattern specification (GO:0009952)|cell adhesion (GO:0007155)|cell fate specification (GO:0001708)|cerebral cortex development (GO:0021987)|embryonic body morphogenesis (GO:0010172)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|lens development in camera-type eye (GO:0002088)|muscle cell differentiation (GO:0042692)|myoblast fusion (GO:0007520)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of neural precursor cell proliferation (GO:2000179)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of skeletal muscle tissue development (GO:0048643)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of protein heterodimerization activity (GO:0043497)|skeletal muscle satellite cell differentiation (GO:0014816)|smoothened signaling pathway (GO:0007224)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(9)|ovary(3)|prostate(2)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	61	all_hematologic(175;0.177)	Breast(109;0.00157)|Lung NSC(97;0.0127)|all_lung(97;0.0133)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.51e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0604)		TGTTATTGTTACTTGATGGAA	0.343																																						ENST00000392693.3																			0				breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(9)|ovary(3)|prostate(2)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	61						c.(2557-2559)agT>agC		cell adhesion associated, oncogene regulated							93	88	90					11																	125864270		2201	4299	6500	SO:0001819	synonymous_variant	50937				cell adhesion|muscle cell differentiation|positive regulation of muscle cell differentiation	integral to membrane|plasma membrane	protein binding	g.chr11:125864270A>G	AF004841	CCDS8468.1, CCDS58192.1	11q24.2	2013-02-11	2012-12-07		ENSG00000064309	ENSG00000064309		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	17104	protein-coding gene	gene with protein product	"cell adhesion molecule-related/down-regulated by oncogenes"	608707	"Cdon homolog (mouse)"			9214393	Standard	NM_016952		Approved	ORCAM, CDO, CDON1	uc009zbw.3	Q4KMG0	OTTHUMG00000165862	ENST00000392693.3:c.2559T>C	11.37:g.125864270A>G						CDON_ENST00000263577.7_Silent_p.S853S|CDON_ENST00000531738.1_Silent_p.S230S	p.S853S	NM_001243597.1|NM_016952.4	NP_001230526.1|NP_058648.4	Q4KMG0	CDON_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.51e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0604)	14	2686	-	all_hematologic(175;0.177)	Breast(109;0.00157)|Lung NSC(97;0.0127)|all_lung(97;0.0133)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	853			Fibronectin type-III 3.		O14631	Silent	SNP	ENST00000392693.3	37	c.2559T>C	CCDS58192.1																																																																																				0.343	CDON-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386749.2	NM_016952		12	23	0	0	0	1	0	12	23					G	125864270	A	G	125864270	2	3	435	1	0	0	0	0	0	0	0	1	3170	388	14	4		4	CDON	11	125864270	Silent	SNP	A	TCGA-XK-AAIW-01A-11D-A41K-08	94742	125864270	9142246	5483	26408											
FAM118B	79607	broad.mit.edu	37	chr11	126126678	126126678	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttaaagtcatctcctatggaGatgactatgccgatcttcca	11	13	7	10	1	3	2	1	1	2	1	5	4	4	2	3	1	1	0	3	1	4	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:126126678G>T	ENST00000533050.1	+	7	1406	c.913G>T	c.(913-915)Gat>Tat	p.D305Y	FAM118B_ENST00000529731.1_Missense_Mutation_p.D229Y|FAM118B_ENST00000360194.4_Missense_Mutation_p.D305Y	NM_024556.3	NP_078832.1	Q9BPY3	F118B_HUMAN	family with sequence similarity 118, member B	305										breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|skin(1)	13	all_hematologic(175;0.145)	Breast(109;0.00156)|Lung NSC(97;0.00948)|all_lung(97;0.0101)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.15e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0784)		CTCCTATGGAGATGACTATGC	0.443																																						ENST00000533050.1																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|skin(1)	13						c.(913-915)Gat>Tat		family with sequence similarity 118, member B							161	168	166					11																	126126678		2201	4299	6500	SO:0001583	missense	79607							g.chr11:126126678G>T	BC001340	CCDS8470.1	11q24.2	2014-03-13				ENSG00000197798			26110	protein-coding gene	gene with protein product						24569877	Standard	NM_024556		Approved	FLJ21103	uc001qdf.3	Q9BPY3		ENST00000533050.1:c.913G>T	11.37:g.126126678G>T	ENSP00000433343:p.Asp305Tyr					FAM118B_ENST00000360194.4_Missense_Mutation_p.D305Y	p.D305Y	NM_024556.3	NP_078832.1	Q9BPY3	F118B_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.15e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0784)	7	1406	+	all_hematologic(175;0.145)	Breast(109;0.00156)|Lung NSC(97;0.00948)|all_lung(97;0.0101)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	305					Q9H7B0	Missense_Mutation	SNP	ENST00000533050.1	37	c.913G>T	CCDS8470.1	.	.	.	.	.	.	.	.	.	.	G	14.02	2.411632	0.42817	.	.	ENSG00000197798	ENST00000533050;ENST00000528985;ENST00000529731;ENST00000360194;ENST00000525338	T;T;T;T;T	0.31247	1.5;1.5;1.5;1.5;1.5	5.04	2.67	0.31697	.	0.233302	0.43919	D	0.000503	T	0.23370	0.0565	L	0.27053	0.805	0.25414	N	0.988337	P;B;B	0.34826	0.471;0.34;0.34	B;B;B	0.40285	0.325;0.174;0.241	T	0.14337	-1.0476	10	0.87932	D	0	-15.5667	7.4447	0.27205	0.7173:0.0:0.2827:0.0	.	229;305;305	G3V179;E9PMJ2;Q9BPY3	.;.;F118B_HUMAN	Y	305;305;229;305;229	ENSP00000433343:D305Y;ENSP00000434952:D305Y;ENSP00000432712:D229Y;ENSP00000353321:D305Y;ENSP00000435754:D229Y	ENSP00000353321:D305Y	D	+	1	0	FAM118B	125631888	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	1.862000	0.39448	0.947000	0.37659	-0.312000	0.09012	GAT		0.443	FAM118B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386346.1	NM_024556		67	113	1	0	3.28615e-30	1	3.68232e-30	67	113					T	126126678	G	T	126126678	3	4	435	1	0	0	0	0	1	0	0	0	5412	942	33	5	931	5	FAM118B	11	126126678	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	262408	126126678	8879838	5484	26409											
FAM118B	79607	broad.mit.edu	37	chr11	126126745	126126745	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gatctccacaaggggtacatCaggtaagatgcattttgaag	13	10	11	7	0	2	2	1	1	1	1	3	3	2	2	1	3	2	3	1	3	4	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:126126745C>T	ENST00000533050.1	+	7	1473	c.980C>T	c.(979-981)tCa>tTa	p.S327L	FAM118B_ENST00000529731.1_Missense_Mutation_p.S251L|FAM118B_ENST00000360194.4_Missense_Mutation_p.S327L	NM_024556.3	NP_078832.1	Q9BPY3	F118B_HUMAN	family with sequence similarity 118, member B	327										breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|skin(1)	13	all_hematologic(175;0.145)	Breast(109;0.00156)|Lung NSC(97;0.00948)|all_lung(97;0.0101)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.15e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0784)		AGGGGTACATCAGGTAAGATG	0.438																																						ENST00000533050.1																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|skin(1)	13						c.(979-981)tCa>tTa		family with sequence similarity 118, member B							137	141	140					11																	126126745		2201	4299	6500	SO:0001583	missense	79607							g.chr11:126126745C>T	BC001340	CCDS8470.1	11q24.2	2014-03-13				ENSG00000197798			26110	protein-coding gene	gene with protein product						24569877	Standard	NM_024556		Approved	FLJ21103	uc001qdf.3	Q9BPY3		ENST00000533050.1:c.980C>T	11.37:g.126126745C>T	ENSP00000433343:p.Ser327Leu					FAM118B_ENST00000360194.4_Missense_Mutation_p.S327L	p.S327L	NM_024556.3	NP_078832.1	Q9BPY3	F118B_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.15e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0784)	7	1473	+	all_hematologic(175;0.145)	Breast(109;0.00156)|Lung NSC(97;0.00948)|all_lung(97;0.0101)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	327					Q9H7B0	Missense_Mutation	SNP	ENST00000533050.1	37	c.980C>T	CCDS8470.1	.	.	.	.	.	.	.	.	.	.	C	17.31	3.356257	0.61293	.	.	ENSG00000197798	ENST00000533050;ENST00000528985;ENST00000529731;ENST00000360194	T;T;T;T	0.44083	1.51;1.51;0.93;1.51	5.14	4.23	0.50019	.	0.567809	0.17346	N	0.177582	T	0.31420	0.0796	L	0.27053	0.805	0.23645	N	0.997211	B;B;B	0.15473	0.013;0.008;0.0	B;B;B	0.14023	0.01;0.004;0.0	T	0.16276	-1.0408	10	0.34782	T	0.22	-11.1081	13.5604	0.61786	0.0:0.9257:0.0:0.0743	.	251;327;327	G3V179;E9PMJ2;Q9BPY3	.;.;F118B_HUMAN	L	327;327;251;327	ENSP00000433343:S327L;ENSP00000434952:S327L;ENSP00000432712:S251L;ENSP00000353321:S327L	ENSP00000353321:S327L	S	+	2	0	FAM118B	125631955	0.998000	0.40836	0.998000	0.56505	0.954000	0.61252	3.813000	0.55636	1.394000	0.46624	0.591000	0.81541	TCA		0.438	FAM118B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386346.1	NM_024556		51	96	0	0	0	1	0	51	96					T	126126745	C	T	126126745	3	4	435	1	0	0	0	0	1	0	0	0	5412	838	29	3	998	3	FAM118B	11	126126745	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	67	126126745	8879771	5485	26410											
FOXRED1	55572	broad.mit.edu	37	chr11	126145710	126145710	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttttgtctcttcatctcaacGcatgttgaccacagatgaca	10	14	6	11	1	3	3	2	2	2	1	5	3	3	3	1	0	1	2	1	0	1	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:126145710G>A	ENST00000263578.5	+	7	829	c.755G>A	c.(754-756)cGc>cAc	p.R252H	FOXRED1_ENST00000442061.2_Missense_Mutation_p.R82H|FOXRED1_ENST00000532125.1_Missense_Mutation_p.R238H|FOXRED1_ENST00000534011.1_3'UTR	NM_017547.3	NP_060017.1	Q96CU9	FXRD1_HUMAN	FAD-dependent oxidoreductase domain containing 1	252						integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	oxidoreductase activity (GO:0016491)			breast(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(1)	15	all_hematologic(175;0.145)	Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0739)|all_lung(97;0.0798)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0729)		TCATCTCAACGCATGTTGACC	0.428																																						ENST00000263578.5																			0				breast(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(1)	15						c.(754-756)cGc>cAc		FAD-dependent oxidoreductase domain containing 1							88	78	81					11																	126145710		2201	4298	6499	SO:0001583	missense	55572					integral to membrane|mitochondrion	oxidoreductase activity|protein binding	g.chr11:126145710G>A		CCDS8471.1	11q24.2	2006-02-03			ENSG00000110074	ENSG00000110074			26927	protein-coding gene	gene with protein product		613622				10497265	Standard	NM_017547		Approved	H17	uc001qdi.3	Q96CU9	OTTHUMG00000165827	ENST00000263578.5:c.755G>A	11.37:g.126145710G>A	ENSP00000263578:p.Arg252His					FOXRED1_ENST00000442061.2_Missense_Mutation_p.R82H|FOXRED1_ENST00000534011.1_3'UTR|FOXRED1_ENST00000532125.1_Missense_Mutation_p.R238H	p.R252H	NM_017547.3	NP_060017.1	Q96CU9	FXRD1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0729)	7	829	+	all_hematologic(175;0.145)	Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0739)|all_lung(97;0.0798)|all_neural(223;0.224)	252					B3KN84|B4DHU2|Q71MG0|Q9BU39|Q9UKY9	Missense_Mutation	SNP	ENST00000263578.5	37	c.755G>A	CCDS8471.1	.	.	.	.	.	.	.	.	.	.	G	12.00	1.806480	0.31961	.	.	ENSG00000110074	ENST00000263578;ENST00000442061;ENST00000532125	D;D;D	0.83250	-1.7;-1.7;-1.7	5.76	-11.5	0.00074	FAD dependent oxidoreductase (1);	1.526470	0.03179	N	0.171776	T	0.68165	0.2971	L	0.29908	0.895	0.09310	N	0.999999	B;B;B	0.14805	0.002;0.011;0.004	B;B;B	0.13407	0.005;0.007;0.009	T	0.54833	-0.8234	10	0.42905	T	0.14	0.608	6.7826	0.23654	0.4306:0.4001:0.097:0.0723	.	238;119;252	Q96CU9-3;B4DI59;Q96CU9	.;.;FXRD1_HUMAN	H	252;82;238	ENSP00000263578:R252H;ENSP00000404371:R82H;ENSP00000434178:R238H	ENSP00000263578:R252H	R	+	2	0	FOXRED1	125650920	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.122000	0.01321	-2.646000	0.00426	-1.967000	0.00467	CGC		0.428	FOXRED1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386434.1	NM_017547		18	37	0	0	0	1	0	18	37					A	126145710	G	A	126145710	3	1	435	1	0	0	0	0	1	0	0	0	6033	1087	38	1	781	1	FOXRED1	11	126145710	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	18965	126145710	8860806	5486	26411											
TIRAP	114609	broad.mit.edu	37	chr11	126162649	126162649	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcagcactgccagcctgcgCtgcttcctgcaactccggga	6	7	12	16	2	0	0	0	0	0	0	2	1	2	1	4	2	7	5	4	2	1	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:126162649C>T	ENST00000392680.2	+	5	750	c.345C>T	c.(343-345)cgC>cgT	p.R115R	TIRAP_ENST00000392678.3_Silent_p.R115R|RP11-712L6.5_ENST00000528876.1_5'Flank|TIRAP_ENST00000392679.1_Silent_p.R115R|RP11-712L6.7_ENST00000533378.1_RNA	NM_001039661.1	NP_001034750.1	P58753	TIRAP_HUMAN	toll-interleukin 1 receptor (TIR) domain containing adaptor protein	115	TIR. {ECO:0000255|PROSITE- ProRule:PRU00204}.				3'-UTR-mediated mRNA stabilization (GO:0070935)|cell surface receptor signaling pathway (GO:0007166)|cellular response to bacterial lipopeptide (GO:0071221)|cellular response to lipoteichoic acid (GO:0071223)|defense response to Gram-positive bacterium (GO:0050830)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|myeloid cell differentiation (GO:0030099)|negative regulation of growth of symbiont in host (GO:0044130)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of chemokine (C-X-C motif) ligand 1 production (GO:2000340)|positive regulation of chemokine (C-X-C motif) ligand 2 production (GO:2000343)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-15 production (GO:0032738)|positive regulation of interleukin-6 biosynthetic process (GO:0045410)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of JNK cascade (GO:0046330)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein homodimerization activity (GO:0090073)|positive regulation of toll-like receptor 2 signaling pathway (GO:0034137)|positive regulation of toll-like receptor 3 signaling pathway (GO:0034141)|positive regulation of toll-like receptor 4 signaling pathway (GO:0034145)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of innate immune response (GO:0045088)|regulation of interferon-beta production (GO:0032648)|response to lipopolysaccharide (GO:0032496)|TIRAP-dependent toll-like receptor 4 signaling pathway (GO:0035665)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein binding, bridging (GO:0030674)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase C binding (GO:0005080)|Toll-like receptor 2 binding (GO:0035663)|Toll-like receptor 4 binding (GO:0035662)			breast(1)|endometrium(1)|large_intestine(2)|ovary(1)|upper_aerodigestive_tract(1)	6	all_hematologic(175;0.145)	Breast(109;0.00156)|Lung NSC(97;0.00948)|all_lung(97;0.0101)|Medulloblastoma(222;0.0425)|all_neural(223;0.0604)		BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0739)		CCAGCCTGCGCTGCTTCCTGC	0.627																																						ENST00000392679.1																			0				breast(1)|endometrium(1)|large_intestine(2)|ovary(1)|upper_aerodigestive_tract(1)	6						c.(343-345)cgC>cgT		toll-interleukin 1 receptor (TIR) domain containing adaptor protein							32	29	30					11																	126162649		2201	4298	6499	SO:0001819	synonymous_variant	114609				3'-UTR-mediated mRNA stabilization|cellular response to bacterial lipopeptide|cellular response to lipoteichoic acid|defense response to Gram-positive bacterium|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|myeloid cell differentiation|negative regulation of growth of symbiont in host|positive regulation of B cell proliferation|positive regulation of chemokine (C-X-C motif) ligand 1 production|positive regulation of chemokine (C-X-C motif) ligand 2 production|positive regulation of ERK1 and ERK2 cascade|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-12 production|positive regulation of interleukin-15 production|positive regulation of interleukin-6 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of JNK cascade|positive regulation of neutrophil chemotaxis|positive regulation of NF-kappaB transcription factor activity|positive regulation of protein homodimerization activity|positive regulation of toll-like receptor 2 signaling pathway|positive regulation of toll-like receptor 3 signaling pathway|positive regulation of toll-like receptor 4 signaling pathway|positive regulation of tumor necrosis factor production|regulation of interferon-beta production|response to lipopolysaccharide|TIRAP-dependent toll-like receptor 4 signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway	endocytic vesicle|intrinsic to membrane|ruffle membrane	phosphatidylinositol-4,5-bisphosphate binding|protein binding, bridging|protein heterodimerization activity|protein homodimerization activity|protein kinase C delta binding|Toll-like receptor 2 binding|Toll-like receptor 4 binding|transmembrane receptor activity	g.chr11:126162649C>T	AF378129	CCDS8472.1, CCDS41731.1	11q24.2	2008-02-05	2002-01-14		ENSG00000150455	ENSG00000150455			17192	protein-coding gene	gene with protein product	"MyD88 adapter-like"	606252	"Toll-interleukin 1 receptor (TIR) domain-containing adaptor protein"			11526399, 11544529	Standard	XM_005271399		Approved	Mal, wyatt	uc001qdl.1	P58753	OTTHUMG00000140373	ENST00000392680.2:c.345C>T	11.37:g.126162649C>T						TIRAP_ENST00000392678.3_Silent_p.R115R|TIRAP_ENST00000392680.2_Silent_p.R115R	p.R115R			P58753	TIRAP_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0739)	4	628	+	all_hematologic(175;0.145)	Breast(109;0.00156)|Lung NSC(97;0.00948)|all_lung(97;0.0101)|Medulloblastoma(222;0.0425)|all_neural(223;0.0604)	115			TIR.		B3KW65|Q56UH9|Q56UI0|Q8N5E5	Silent	SNP	ENST00000392680.2	37	c.345C>T	CCDS8472.1																																																																																				0.627	TIRAP-002	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000277092.1	NM_148910		5	9	0	0	0	1	0	5	9					T	126162649	C	T	126162649	2	4	435	1	0	0	0	0	0	0	0	1	15924	784	28	3		3	TIRAP	11	126162649	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	16939	126162649	8843867	5487	26412											
TIRAP	114609	broad.mit.edu	37	chr11	126162816	126162816	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cctgaccgaggctccaggggCcgagggctgcaccatccccc	6	4	13	18	2	0	1	0	1	0	0	2	3	2	1	7	4	1	3	7	4	0	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:126162816C>T	ENST00000392680.2	+	5	917	c.512C>T	c.(511-513)gCc>gTc	p.A171V	TIRAP_ENST00000392678.3_Missense_Mutation_p.A171V|RP11-712L6.5_ENST00000528876.1_5'Flank|TIRAP_ENST00000392679.1_Missense_Mutation_p.A171V|RP11-712L6.7_ENST00000533378.1_RNA	NM_001039661.1	NP_001034750.1	P58753	TIRAP_HUMAN	toll-interleukin 1 receptor (TIR) domain containing adaptor protein	171	TIR. {ECO:0000255|PROSITE- ProRule:PRU00204}.				3'-UTR-mediated mRNA stabilization (GO:0070935)|cell surface receptor signaling pathway (GO:0007166)|cellular response to bacterial lipopeptide (GO:0071221)|cellular response to lipoteichoic acid (GO:0071223)|defense response to Gram-positive bacterium (GO:0050830)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|myeloid cell differentiation (GO:0030099)|negative regulation of growth of symbiont in host (GO:0044130)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of chemokine (C-X-C motif) ligand 1 production (GO:2000340)|positive regulation of chemokine (C-X-C motif) ligand 2 production (GO:2000343)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-15 production (GO:0032738)|positive regulation of interleukin-6 biosynthetic process (GO:0045410)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of JNK cascade (GO:0046330)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein homodimerization activity (GO:0090073)|positive regulation of toll-like receptor 2 signaling pathway (GO:0034137)|positive regulation of toll-like receptor 3 signaling pathway (GO:0034141)|positive regulation of toll-like receptor 4 signaling pathway (GO:0034145)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of innate immune response (GO:0045088)|regulation of interferon-beta production (GO:0032648)|response to lipopolysaccharide (GO:0032496)|TIRAP-dependent toll-like receptor 4 signaling pathway (GO:0035665)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein binding, bridging (GO:0030674)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase C binding (GO:0005080)|Toll-like receptor 2 binding (GO:0035663)|Toll-like receptor 4 binding (GO:0035662)			breast(1)|endometrium(1)|large_intestine(2)|ovary(1)|upper_aerodigestive_tract(1)	6	all_hematologic(175;0.145)	Breast(109;0.00156)|Lung NSC(97;0.00948)|all_lung(97;0.0101)|Medulloblastoma(222;0.0425)|all_neural(223;0.0604)		BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0739)		GCTCCAGGGGCCGAGGGCTGC	0.647																																						ENST00000392679.1																			0				breast(1)|endometrium(1)|large_intestine(2)|ovary(1)|upper_aerodigestive_tract(1)	6						c.(511-513)gCc>gTc		toll-interleukin 1 receptor (TIR) domain containing adaptor protein							31	33	32					11																	126162816		2201	4298	6499	SO:0001583	missense	114609				3'-UTR-mediated mRNA stabilization|cellular response to bacterial lipopeptide|cellular response to lipoteichoic acid|defense response to Gram-positive bacterium|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|myeloid cell differentiation|negative regulation of growth of symbiont in host|positive regulation of B cell proliferation|positive regulation of chemokine (C-X-C motif) ligand 1 production|positive regulation of chemokine (C-X-C motif) ligand 2 production|positive regulation of ERK1 and ERK2 cascade|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-12 production|positive regulation of interleukin-15 production|positive regulation of interleukin-6 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of JNK cascade|positive regulation of neutrophil chemotaxis|positive regulation of NF-kappaB transcription factor activity|positive regulation of protein homodimerization activity|positive regulation of toll-like receptor 2 signaling pathway|positive regulation of toll-like receptor 3 signaling pathway|positive regulation of toll-like receptor 4 signaling pathway|positive regulation of tumor necrosis factor production|regulation of interferon-beta production|response to lipopolysaccharide|TIRAP-dependent toll-like receptor 4 signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway	endocytic vesicle|intrinsic to membrane|ruffle membrane	phosphatidylinositol-4,5-bisphosphate binding|protein binding, bridging|protein heterodimerization activity|protein homodimerization activity|protein kinase C delta binding|Toll-like receptor 2 binding|Toll-like receptor 4 binding|transmembrane receptor activity	g.chr11:126162816C>T	AF378129	CCDS8472.1, CCDS41731.1	11q24.2	2008-02-05	2002-01-14		ENSG00000150455	ENSG00000150455			17192	protein-coding gene	gene with protein product	"MyD88 adapter-like"	606252	"Toll-interleukin 1 receptor (TIR) domain-containing adaptor protein"			11526399, 11544529	Standard	XM_005271399		Approved	Mal, wyatt	uc001qdl.1	P58753	OTTHUMG00000140373	ENST00000392680.2:c.512C>T	11.37:g.126162816C>T	ENSP00000376447:p.Ala171Val					TIRAP_ENST00000392678.3_Missense_Mutation_p.A171V|TIRAP_ENST00000392680.2_Missense_Mutation_p.A171V|RP11-712L6.7_ENST00000533378.1_RNA	p.A171V			P58753	TIRAP_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0739)	4	795	+	all_hematologic(175;0.145)	Breast(109;0.00156)|Lung NSC(97;0.00948)|all_lung(97;0.0101)|Medulloblastoma(222;0.0425)|all_neural(223;0.0604)	171			TIR.		B3KW65|Q56UH9|Q56UI0|Q8N5E5	Missense_Mutation	SNP	ENST00000392680.2	37	c.512C>T	CCDS8472.1	.	.	.	.	.	.	.	.	.	.	C	18.62	3.663423	0.67700	.	.	ENSG00000150455	ENST00000392679;ENST00000279992;ENST00000392678;ENST00000392680	T;T;T	0.02369	4.32;4.32;4.32	5.67	5.67	0.87782	Toll/interleukin-1 receptor homology (TIR) domain (1);	0.246248	0.40640	N	0.001048	T	0.11879	0.0289	L	0.55481	1.735	0.09310	N	0.999993	P;D	0.63880	0.896;0.993	P;D	0.63113	0.673;0.911	T	0.02104	-1.1213	9	.	.	.	-3.9705	19.7738	0.96383	0.0:1.0:0.0:0.0	.	171;171	P58753;Q56UH9	TIRAP_HUMAN;.	V	171	ENSP00000376446:A171V;ENSP00000376445:A171V;ENSP00000376447:A171V	.	A	+	2	0	TIRAP	125668026	0.162000	0.22906	0.016000	0.15963	0.268000	0.26511	3.986000	0.56937	2.672000	0.90937	0.655000	0.94253	GCC		0.647	TIRAP-002	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000277092.1	NM_148910		3	11	0	0	0	1	0	3	11					T	126162816	C	T	126162816	3	4	435	1	0	0	0	0	1	0	0	0	15924	739	26	3	518	3	TIRAP	11	126162816	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	167	126162816	8843700	5488	26413											
TIRAP	114609	broad.mit.edu	37	chr11	126162971	126162971	+	Intron	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtaagctactacaggagggaGaaggggaacgggattcagct	13	6	16	6	1	1	1	1	0	0	1	1	5	1	4	0	5	5	3	0	5	5	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:126162971G>A	ENST00000392680.2	+	5	1051				TIRAP_ENST00000392678.3_Missense_Mutation_p.E223K|RP11-712L6.5_ENST00000528876.1_5'Flank|TIRAP_ENST00000392679.1_Intron|RP11-712L6.7_ENST00000533378.1_RNA	NM_001039661.1	NP_001034750.1	P58753	TIRAP_HUMAN	toll-interleukin 1 receptor (TIR) domain containing adaptor protein						3'-UTR-mediated mRNA stabilization (GO:0070935)|cell surface receptor signaling pathway (GO:0007166)|cellular response to bacterial lipopeptide (GO:0071221)|cellular response to lipoteichoic acid (GO:0071223)|defense response to Gram-positive bacterium (GO:0050830)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|myeloid cell differentiation (GO:0030099)|negative regulation of growth of symbiont in host (GO:0044130)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of chemokine (C-X-C motif) ligand 1 production (GO:2000340)|positive regulation of chemokine (C-X-C motif) ligand 2 production (GO:2000343)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-15 production (GO:0032738)|positive regulation of interleukin-6 biosynthetic process (GO:0045410)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of JNK cascade (GO:0046330)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein homodimerization activity (GO:0090073)|positive regulation of toll-like receptor 2 signaling pathway (GO:0034137)|positive regulation of toll-like receptor 3 signaling pathway (GO:0034141)|positive regulation of toll-like receptor 4 signaling pathway (GO:0034145)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of innate immune response (GO:0045088)|regulation of interferon-beta production (GO:0032648)|response to lipopolysaccharide (GO:0032496)|TIRAP-dependent toll-like receptor 4 signaling pathway (GO:0035665)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein binding, bridging (GO:0030674)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase C binding (GO:0005080)|Toll-like receptor 2 binding (GO:0035663)|Toll-like receptor 4 binding (GO:0035662)			breast(1)|endometrium(1)|large_intestine(2)|ovary(1)|upper_aerodigestive_tract(1)	6	all_hematologic(175;0.145)	Breast(109;0.00156)|Lung NSC(97;0.00948)|all_lung(97;0.0101)|Medulloblastoma(222;0.0425)|all_neural(223;0.0604)		BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0739)		ACAGGAGGGAGAAGGGGAACG	0.498																																						ENST00000392678.3																			0				breast(1)|endometrium(1)|large_intestine(2)|ovary(1)|upper_aerodigestive_tract(1)	6						c.(667-669)Gaa>Aaa		toll-interleukin 1 receptor (TIR) domain containing adaptor protein							55	60	58					11																	126162971		2158	4262	6420	SO:0001627	intron_variant	114609				3'-UTR-mediated mRNA stabilization|cellular response to bacterial lipopeptide|cellular response to lipoteichoic acid|defense response to Gram-positive bacterium|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|myeloid cell differentiation|negative regulation of growth of symbiont in host|positive regulation of B cell proliferation|positive regulation of chemokine (C-X-C motif) ligand 1 production|positive regulation of chemokine (C-X-C motif) ligand 2 production|positive regulation of ERK1 and ERK2 cascade|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-12 production|positive regulation of interleukin-15 production|positive regulation of interleukin-6 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of JNK cascade|positive regulation of neutrophil chemotaxis|positive regulation of NF-kappaB transcription factor activity|positive regulation of protein homodimerization activity|positive regulation of toll-like receptor 2 signaling pathway|positive regulation of toll-like receptor 3 signaling pathway|positive regulation of toll-like receptor 4 signaling pathway|positive regulation of tumor necrosis factor production|regulation of interferon-beta production|response to lipopolysaccharide|TIRAP-dependent toll-like receptor 4 signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway	endocytic vesicle|intrinsic to membrane|ruffle membrane	phosphatidylinositol-4,5-bisphosphate binding|protein binding, bridging|protein heterodimerization activity|protein homodimerization activity|protein kinase C delta binding|Toll-like receptor 2 binding|Toll-like receptor 4 binding|transmembrane receptor activity	g.chr11:126162971G>A	AF378129	CCDS8472.1, CCDS41731.1	11q24.2	2008-02-05	2002-01-14		ENSG00000150455	ENSG00000150455			17192	protein-coding gene	gene with protein product	"MyD88 adapter-like"	606252	"Toll-interleukin 1 receptor (TIR) domain-containing adaptor protein"			11526399, 11544529	Standard	XM_005271399		Approved	Mal, wyatt	uc001qdl.1	P58753	OTTHUMG00000140373	ENST00000392680.2:c.646+21G>A	11.37:g.126162971G>A						TIRAP_ENST00000392679.1_Intron|TIRAP_ENST00000392680.2_Intron|RP11-712L6.7_ENST00000533378.1_RNA	p.E223K	NM_148910.2	NP_683708.1	P58753	TIRAP_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0739)	5	1096	+	all_hematologic(175;0.145)	Breast(109;0.00156)|Lung NSC(97;0.00948)|all_lung(97;0.0101)|Medulloblastoma(222;0.0425)|all_neural(223;0.0604)	0					B3KW65|Q56UH9|Q56UI0|Q8N5E5	Missense_Mutation	SNP	ENST00000392680.2	37	c.667G>A	CCDS8472.1	.	.	.	.	.	.	.	.	.	.	G	12.47	1.947020	0.34377	.	.	ENSG00000150455	ENST00000392678	T	0.09445	2.98	5.68	-2.78	0.05859	.	.	.	.	.	T	0.05135	0.0137	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.43637	-0.9379	7	.	.	.	.	5.2496	0.15515	0.2021:0.0:0.5295:0.2684	.	223	Q56UH9	.	K	223	ENSP00000376445:E223K	.	E	+	1	0	TIRAP	125668181	0.000000	0.05858	0.000000	0.03702	0.547000	0.35210	0.140000	0.16056	-0.725000	0.04901	0.655000	0.94253	GAA		0.498	TIRAP-002	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000277092.1	NM_148910		11	13	0	0	0	1	0	11	13					A	126162971	G	A	126162971	1	1	435	0	1	0	0	0	0	0	0	0	15924	943	33	3		3	TIRAP	11	126162971	Intron	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	155	126162971	8843545	5489	26414											
DCPS	28960	broad.mit.edu	37	chr11	126215288	126215288	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gaagggagaccatctgcgagTatacctgcactacctgccct	10	8	10	13	1	1	1	0	0	1	1	1	4	1	1	4	1	5	2	4	1	4	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:126215288T>C	ENST00000263579.4	+	6	1123	c.794T>C	c.(793-795)gTa>gCa	p.V265A	DCPS_ENST00000530860.1_3'UTR	NM_014026.3	NP_054745.1	Q96C86	DCPS_HUMAN	decapping enzyme, scavenger	265					cellular response to menadione (GO:0036245)|deadenylation-dependent decapping of nuclear-transcribed mRNA (GO:0000290)|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA cis splicing, via spliceosome (GO:0045292)|mRNA metabolic process (GO:0016071)|negative regulation of programmed cell death (GO:0043069)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	m7G(5')pppN diphosphatase activity (GO:0050072)|RNA 7-methylguanosine cap binding (GO:0000340)			endometrium(3)|large_intestine(4)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	17	all_hematologic(175;0.145)	Breast(109;0.00156)|Lung NSC(97;0.00949)|all_lung(97;0.0101)|Medulloblastoma(222;0.0425)|all_neural(223;0.0604)		BRCA - Breast invasive adenocarcinoma(274;1.15e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.08)		CATCTGCGAGTATACCTGCAC	0.662																																						ENST00000263579.4																			0				endometrium(3)|large_intestine(4)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	17						c.(793-795)gTa>gCa		decapping enzyme, scavenger							210	136	161					11																	126215288		2201	4298	6499	SO:0001583	missense	28960				deadenylation-dependent decapping of nuclear-transcribed mRNA|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytosol|nucleus	exoribonuclease activity|protein binding	g.chr11:126215288T>C	AF077201	CCDS8473.1	11q24	2008-02-05			ENSG00000110063	ENSG00000110063			29812	protein-coding gene	gene with protein product		610534				12198172, 14523240	Standard	NM_014026		Approved	HSPC015, HINT-5, HSL1	uc001qdp.3	Q96C86	OTTHUMG00000165829	ENST00000263579.4:c.794T>C	11.37:g.126215288T>C	ENSP00000263579:p.Val265Ala					DCPS_ENST00000530860.1_3'UTR	p.V265A	NM_014026.3	NP_054745.1	Q96C86	DCPS_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.15e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.08)	6	1123	+	all_hematologic(175;0.145)	Breast(109;0.00156)|Lung NSC(97;0.00949)|all_lung(97;0.0101)|Medulloblastoma(222;0.0425)|all_neural(223;0.0604)	265					Q8NHL8|Q9Y2S5	Missense_Mutation	SNP	ENST00000263579.4	37	c.794T>C	CCDS8473.1	.	.	.	.	.	.	.	.	.	.	T	18.90	3.721896	0.68959	.	.	ENSG00000110063	ENST00000263579	D	0.95756	-3.8	5.3	5.3	0.74995	Histidine triad, conserved site (1);Histidine triad-like motif (1);	0.119371	0.56097	D	0.000025	D	0.92945	0.7755	L	0.39245	1.2	0.58432	D	0.999992	P	0.41265	0.744	B	0.41894	0.369	D	0.91952	0.5572	10	0.28530	T	0.3	-25.1417	15.3121	0.74042	0.0:0.0:0.0:1.0	.	265	Q96C86	DCPS_HUMAN	A	265	ENSP00000263579:V265A	ENSP00000263579:V265A	V	+	2	0	DCPS	125720498	1.000000	0.71417	0.992000	0.48379	0.354000	0.29330	7.698000	0.84413	2.016000	0.59253	0.529000	0.55759	GTA		0.662	DCPS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386455.1	NM_014026		12	38	0	0	0	1	0	12	38					C	126215288	T	C	126215288	3	2	435	1	0	0	0	0	1	0	0	0	4301	1638	57	4	816	4	DCPS	11	126215288	Missense_Mutation	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	52317	126215288	8791228	5490	26415											
KCNJ5	3762	broad.mit.edu	37	chr11	128781383	128781383	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caacgtccaggagacctaccGgtacctgagtgacctcttca	10	8	9	14	2	2	3	1	2	1	1	3	4	3	3	5	2	3	1	5	2	3	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:128781383G>A	ENST00000338350.4	+	3	567	c.215G>A	c.(214-216)cGg>cAg	p.R72Q	KCNJ5_ENST00000533599.1_Missense_Mutation_p.R72Q|KCNJ5_ENST00000529694.1_Missense_Mutation_p.R72Q			P48544	KCNJ5_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 5	72					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	G-protein activated inward rectifier potassium channel activity (GO:0015467)			NS(1)|breast(1)|endometrium(4)|large_intestine(4)|liver(2)|lung(9)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	26	all_hematologic(175;0.0641)	Lung NSC(97;0.00038)|all_lung(97;0.000817)|Breast(109;0.00123)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0059)|LUSC - Lung squamous cell carcinoma(976;0.021)|Lung(977;0.0215)	Glyburide(DB01016)	GAGACCTACCGGTACCTGAGT	0.597																																					Pancreas(108;2548 5082)|Esophageal Squamous(165;4544 6231)	ENST00000529694.1																			0				NS(1)|breast(1)|endometrium(4)|large_intestine(4)|liver(2)|lung(9)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	26						c.(214-216)cGg>cAg		potassium inwardly-rectifying channel, subfamily J, member 5	Glibenclamide(DB01016)						138	113	122					11																	128781383		2201	4297	6498	SO:0001583	missense	3762				synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding	g.chr11:128781383G>A	D50134	CCDS8479.1	11q24	2014-09-17				ENSG00000120457		"Potassium channels", "Voltage-gated ion channels / Potassium channels, Inwardly rectifying"	6266	protein-coding gene	gene with protein product		600734				16382105	Standard	NM_000890		Approved	Kir3.4, CIR, KATP1, GIRK4, LQT13	uc001qet.3	P48544		ENST00000338350.4:c.215G>A	11.37:g.128781383G>A	ENSP00000339960:p.Arg72Gln					KCNJ5_ENST00000533599.1_Missense_Mutation_p.R72Q|KCNJ5_ENST00000338350.4_Missense_Mutation_p.R72Q	p.R72Q	NM_000890.3	NP_000881.3	P48544	IRK5_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.0059)|LUSC - Lung squamous cell carcinoma(976;0.021)|Lung(977;0.0215)	2	591	+	all_hematologic(175;0.0641)	Lung NSC(97;0.00038)|all_lung(97;0.000817)|Breast(109;0.00123)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)	72					B2R744|Q6DK13|Q6DK14|Q92807	Missense_Mutation	SNP	ENST00000338350.4	37	c.215G>A	CCDS8479.1	.	.	.	.	.	.	.	.	.	.	G	32	5.170548	0.94807	.	.	ENSG00000120457	ENST00000529694;ENST00000338350;ENST00000533599	D;D;D	0.96745	-4.11;-4.11;-4.11	5.34	5.34	0.76211	Potassium channel, inwardly rectifying, Kir, conserved region 2 (1);	0.000000	0.85682	D	0.000000	D	0.98451	0.9484	M	0.89904	3.07	0.80722	D	1	D	0.89917	1.0	D	0.71184	0.972	D	0.99461	1.0943	10	0.87932	D	0	.	19.0605	0.93091	0.0:0.0:1.0:0.0	.	72	P48544	IRK5_HUMAN	Q	72	ENSP00000433295:R72Q;ENSP00000339960:R72Q;ENSP00000434266:R72Q	ENSP00000339960:R72Q	R	+	2	0	KCNJ5	128286593	1.000000	0.71417	1.000000	0.80357	0.885000	0.51271	9.869000	0.99810	2.505000	0.84491	0.650000	0.86243	CGG		0.597	KCNJ5-003	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000386239.1	NM_000890		32	46	0	0	0	1	0	32	46					A	128781383	G	A	128781383	3	1	435	1	0	0	0	0	1	0	0	0	8054	1116	39	2	217	2	KCNJ5	11	128781383	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	2566095	128781383	6225133	5491	26416											
ARHGAP32	9743	broad.mit.edu	37	chr11	128839028	128839028	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caacagtcacactgctctggCgcttgccgtgtggttggtac	6	11	12	12	2	2	0	1	0	1	0	2	0	2	0	1	3	4	4	1	3	2	3	rs373791354		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:128839028C>T	ENST00000310343.9	-	22	6037	c.6038G>A	c.(6037-6039)cGc>cAc	p.R2013H	ARHGAP32_ENST00000527272.1_Missense_Mutation_p.R1664H|ARHGAP32_ENST00000392657.3_Missense_Mutation_p.R1664H|ARHGAP32_ENST00000524655.1_3'UTR	NM_001142685.1	NP_001136157.1	A7KAX9	RHG32_HUMAN	Rho GTPase activating protein 32	2013	Interaction with FYN.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cell projection (GO:0042995)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|postsynaptic membrane (GO:0045211)	GTPase activator activity (GO:0005096)|phosphatidylinositol binding (GO:0035091)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(28)|ovary(3)|prostate(6)|urinary_tract(3)	60						ACTGCTCTGGCGCTTGCCGTG	0.572																																						ENST00000310343.9																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(28)|ovary(3)|prostate(6)|urinary_tract(3)	60						c.(6037-6039)cGc>cAc		Rho GTPase activating protein 32		C	HIS/ARG,HIS/ARG	1,4401	2.1+/-5.4	0,1,2200	119	99	106		6038,4991	5.7	1	11		106	0,8594		0,0,4297	no	missense,missense	ARHGAP32	NM_001142685.1,NM_014715.3	29,29	0,1,6497	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging,probably-damaging	2013/2088,1664/1739	128839028	1,12995	2201	4297	6498	SO:0001583	missense	9743				cell communication|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell cortex|cell junction|cytosol|dendritic spine|endoplasmic reticulum membrane|endosome membrane|Golgi membrane|postsynaptic density|postsynaptic membrane	GTPase activator activity|phosphatidylinositol binding	g.chr11:128839028C>T	AB018255	CCDS31718.1, CCDS44769.1	11q24.3	2011-06-29			ENSG00000134909	ENSG00000134909		"Rho GTPase activating proteins"	17399	protein-coding gene	gene with protein product		608541				12446789, 12819203, 17663722	Standard	NM_014715		Approved	GRIT, KIAA0712, MGC1892, RICS, GC-GAP	uc009zcp.3	A7KAX9	OTTHUMG00000165774	ENST00000310343.9:c.6038G>A	11.37:g.128839028C>T	ENSP00000310561:p.Arg2013His					ARHGAP32_ENST00000527272.1_Missense_Mutation_p.R1664H|ARHGAP32_ENST00000392657.3_Missense_Mutation_p.R1664H|ARHGAP32_ENST00000524655.1_3'UTR	p.R2013H	NM_001142685.1	NP_001136157.1	A7KAX9	RHG32_HUMAN			22	6037	-			2013			Interaction with FYN.		I7H0B0|O94820|Q86YL6|Q8IUG4|Q9BWG3	Missense_Mutation	SNP	ENST00000310343.9	37	c.6038G>A	CCDS44769.1	.	.	.	.	.	.	.	.	.	.	C	18.10	3.548151	0.65311	2.27E-4	0.0	ENSG00000134909	ENST00000310343;ENST00000392657;ENST00000527272	T;T;T	0.20332	2.08;2.08;2.08	5.68	5.68	0.88126	.	0.059143	0.64402	D	0.000007	T	0.45296	0.1335	M	0.68952	2.095	0.41430	D	0.987858	D	0.89917	1.0	P	0.61722	0.893	T	0.37820	-0.9689	10	0.87932	D	0	.	19.8476	0.96716	0.0:1.0:0.0:0.0	.	2013	A7KAX9	RHG32_HUMAN	H	2013;1664;1664	ENSP00000310561:R2013H;ENSP00000376425:R1664H;ENSP00000432862:R1664H	ENSP00000310561:R2013H	R	-	2	0	ARHGAP32	128344238	1.000000	0.71417	0.998000	0.56505	0.813000	0.45954	3.630000	0.54273	2.694000	0.91930	0.650000	0.86243	CGC		0.572	ARHGAP32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386151.3	NM_014715		19	22	0	0	0	1	0	19	22					T	128839028	C	T	128839028	3	4	435	1	0	0	0	0	1	0	0	0	881	768	27	1	229	1	ARHGAP32	11	128839028	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	57645	128839028	6167488	5492	26417											
ARHGAP32	9743	broad.mit.edu	37	chr11	128868309	128868309	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcagcttctgttttgttggaCgagacttcatgaatgttcgt	7	17	10	7	2	3	2	2	1	1	1	4	4	3	3	0	1	1	4	0	1	1	6			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:128868309C>T	ENST00000310343.9	-	11	1057	c.1058G>A	c.(1057-1059)cGt>cAt	p.R353H	ARHGAP32_ENST00000524655.1_Missense_Mutation_p.R279H|ARHGAP32_ENST00000392657.3_Missense_Mutation_p.R4H|ARHGAP32_ENST00000527272.1_Missense_Mutation_p.R4H	NM_001142685.1	NP_001136157.1	A7KAX9	RHG32_HUMAN	Rho GTPase activating protein 32	353					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cell projection (GO:0042995)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|postsynaptic membrane (GO:0045211)	GTPase activator activity (GO:0005096)|phosphatidylinositol binding (GO:0035091)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(28)|ovary(3)|prostate(6)|urinary_tract(3)	60						TTTTGTTGGACGAGACTTCAT	0.408																																						ENST00000310343.9																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(28)|ovary(3)|prostate(6)|urinary_tract(3)	60						c.(1057-1059)cGt>cAt		Rho GTPase activating protein 32							135	121	126					11																	128868309		2201	4297	6498	SO:0001583	missense	9743				cell communication|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell cortex|cell junction|cytosol|dendritic spine|endoplasmic reticulum membrane|endosome membrane|Golgi membrane|postsynaptic density|postsynaptic membrane	GTPase activator activity|phosphatidylinositol binding	g.chr11:128868309C>T	AB018255	CCDS31718.1, CCDS44769.1	11q24.3	2011-06-29			ENSG00000134909	ENSG00000134909		"Rho GTPase activating proteins"	17399	protein-coding gene	gene with protein product		608541				12446789, 12819203, 17663722	Standard	NM_014715		Approved	GRIT, KIAA0712, MGC1892, RICS, GC-GAP	uc009zcp.3	A7KAX9	OTTHUMG00000165774	ENST00000310343.9:c.1058G>A	11.37:g.128868309C>T	ENSP00000310561:p.Arg353His					ARHGAP32_ENST00000527272.1_Missense_Mutation_p.R4H|ARHGAP32_ENST00000524655.1_Missense_Mutation_p.R279H|ARHGAP32_ENST00000392657.3_Missense_Mutation_p.R4H	p.R353H	NM_001142685.1	NP_001136157.1	A7KAX9	RHG32_HUMAN			11	1057	-			353					I7H0B0|O94820|Q86YL6|Q8IUG4|Q9BWG3	Missense_Mutation	SNP	ENST00000310343.9	37	c.1058G>A	CCDS44769.1	.	.	.	.	.	.	.	.	.	.	C	35	5.477723	0.96291	.	.	ENSG00000134909	ENST00000310343;ENST00000392657;ENST00000524655;ENST00000457677;ENST00000527272;ENST00000356092	T;T;T;T	0.19250	2.66;2.16;2.63;2.16	6.11	6.11	0.99139	.	0.000000	0.85682	D	0.000000	T	0.51415	0.1673	M	0.81497	2.545	0.80722	D	1	D;D;B	0.89917	1.0;1.0;0.396	D;D;B	0.67725	0.953;0.939;0.077	T	0.50039	-0.8874	10	0.72032	D	0.01	.	20.3446	0.98786	0.0:1.0:0.0:0.0	.	287;353;171	Q86T64;A7KAX9;Q86UT2	.;RHG32_HUMAN;.	H	353;4;279;287;4;63	ENSP00000310561:R353H;ENSP00000376425:R4H;ENSP00000432468:R279H;ENSP00000432862:R4H	ENSP00000310561:R353H	R	-	2	0	ARHGAP32	128373519	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	7.276000	0.78559	2.906000	0.99361	0.655000	0.94253	CGT		0.408	ARHGAP32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386151.3	NM_014715		27	58	0	0	0	1	0	27	58					T	128868309	C	T	128868309	3	4	435	1	0	0	0	0	1	0	0	0	881	536	19	1	5253	1	ARHGAP32	11	128868309	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	29281	128868309	6138207	5493	26418											
TMEM45B	120224	broad.mit.edu	37	chr11	129724588	129724588	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggataaagttaatgaattggCagcacagcaccatgtaccta	15	9	9	8	0	0	1	0	1	0	0	0	2	0	2	2	2	3	5	2	2	6	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:129724588C>T	ENST00000524567.1	+	3	543	c.262C>T	c.(262-264)Cag>Tag	p.Q88*	TMEM45B_ENST00000281441.3_Nonsense_Mutation_p.Q88*			Q96B21	TM45B_HUMAN	transmembrane protein 45B	88						integral component of membrane (GO:0016021)				endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|stomach(1)	12	all_hematologic(175;0.0537)	Breast(109;0.00526)|Lung NSC(97;0.00901)|all_lung(97;0.018)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)		OV - Ovarian serous cystadenocarcinoma(99;0.012)|Lung(977;0.179)|LUSC - Lung squamous cell carcinoma(976;0.189)		AATGAATTGGCAGCACAGCAC	0.512																																						ENST00000281441.3																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|stomach(1)	12						c.(262-264)Cag>Tag		transmembrane protein 45B							143	131	135					11																	129724588		2201	4297	6498	SO:0001587	stop_gained	120224					integral to membrane		g.chr11:129724588C>T	AK098106	CCDS8482.1	11q24.3	2008-02-05				ENSG00000151715			25194	protein-coding gene	gene with protein product						12477932	Standard	NM_138788		Approved	BC016153, FLJ40787	uc001qfe.1	Q96B21		ENST00000524567.1:c.262C>T	11.37:g.129724588C>T	ENSP00000436293:p.Gln88*					TMEM45B_ENST00000524567.1_Nonsense_Mutation_p.Q88*	p.Q88*	NM_138788.3	NP_620143.1	Q96B21	TM45B_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.012)|Lung(977;0.179)|LUSC - Lung squamous cell carcinoma(976;0.189)	3	350	+	all_hematologic(175;0.0537)	Breast(109;0.00526)|Lung NSC(97;0.00901)|all_lung(97;0.018)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)	88					A8K2L8	Nonsense_Mutation	SNP	ENST00000524567.1	37	c.262C>T	CCDS8482.1	.	.	.	.	.	.	.	.	.	.	C	39	7.296707	0.98192	.	.	ENSG00000151715	ENST00000281441;ENST00000524567	.	.	.	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-18.5432	18.5819	0.91174	0.0:1.0:0.0:0.0	.	.	.	.	X	88	.	ENSP00000281441:Q88X	Q	+	1	0	TMEM45B	129229798	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	4.601000	0.61090	2.723000	0.93209	0.637000	0.83480	CAG		0.512	TMEM45B-002	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000386062.1	NM_138788		22	19	0	0	0	1	0	22	19					T	129724588	C	T	129724588	4	4	435	1	0	0	0	0	0	1	0	0	16167	711	25	3	268	3	TMEM45B	11	129724588	Nonsense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	856279	129724588	5281928	5494	26419											
NFRKB	4798	broad.mit.edu	37	chr11	129744711	129744711	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actcttcttcactccggtcaCgatgcaggtagatccacagc	9	10	8	14	2	4	1	2	0	2	1	6	2	6	1	2	2	2	2	2	2	1	3	rs148845897		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:129744711C>T	ENST00000446488.3	-	18	2058	c.1955G>A	c.(1954-1956)cGt>cAt	p.R652H	NFRKB_ENST00000524746.1_Missense_Mutation_p.R652H|NFRKB_ENST00000524794.1_Missense_Mutation_p.R677H|NFRKB_ENST00000304521.5_Missense_Mutation_p.R652H	NM_001143835.1	NP_001137307.1	Q6P4R8	NFRKB_HUMAN	nuclear factor related to kappaB binding protein	652					DNA recombination (GO:0006310)|DNA repair (GO:0006281)|inflammatory response (GO:0006954)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	Ino80 complex (GO:0031011)|nucleus (GO:0005634)	DNA binding (GO:0003677)|protease binding (GO:0002020)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(13)|ovary(4)|skin(3)|urinary_tract(1)	32	all_hematologic(175;0.0537)	Breast(109;0.00526)|Lung NSC(97;0.00901)|all_lung(97;0.018)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)		OV - Ovarian serous cystadenocarcinoma(99;0.0167)|Lung(977;0.171)|LUSC - Lung squamous cell carcinoma(976;0.184)		ACTCCGGTCACGATGCAGGTA	0.478													C|||	1	0.000199681	8e-04	0	5008	,	,		20587	0		0	False		,,,				2504	0					ENST00000446488.3																			0				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(13)|ovary(4)|skin(3)|urinary_tract(1)	32						c.(1954-1956)cGt>cAt		nuclear factor related to kappaB binding protein		C	HIS/ARG,HIS/ARG	1,4401	2.1+/-5.4	0,1,2200	216	183	194		1955,2030	5.4	1	11	dbSNP_134	194	0,8594		0,0,4297	no	missense,missense	NFRKB	NM_001143835.1,NM_006165.3	29,29	0,1,6497	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging,probably-damaging	652/1300,677/1325	129744711	1,12995	2201	4297	6498	SO:0001583	missense	4798				DNA recombination|DNA repair|inflammatory response|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Ino80 complex	DNA binding|protease binding	g.chr11:129744711C>T		CCDS8483.1, CCDS44770.1	11q24-q25	2011-07-06			ENSG00000170322	ENSG00000170322		"INO80 complex subunits"	7802	protein-coding gene	gene with protein product	"nuclear factor related to kappa B binding protein", "DNA-binding protein R kappa B", "INO80 complex subunit G"	164013				1427843	Standard	NM_006165		Approved	DKFZp547B2013, INO80G	uc001qfg.3	Q6P4R8	OTTHUMG00000165761	ENST00000446488.3:c.1955G>A	11.37:g.129744711C>T	ENSP00000400476:p.Arg652His					NFRKB_ENST00000524794.1_Missense_Mutation_p.R677H|NFRKB_ENST00000524746.1_Missense_Mutation_p.R652H|NFRKB_ENST00000304521.5_Missense_Mutation_p.R652H	p.R652H	NM_001143835.1	NP_001137307.1	Q6P4R8	NFRKB_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.0167)|Lung(977;0.171)|LUSC - Lung squamous cell carcinoma(976;0.184)	18	2058	-	all_hematologic(175;0.0537)	Breast(109;0.00526)|Lung NSC(97;0.00901)|all_lung(97;0.018)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)	652					Q12869|Q15312|Q9H048	Missense_Mutation	SNP	ENST00000446488.3	37	c.1955G>A	CCDS44770.1	.	.	.	.	.	.	.	.	.	.	C	25.5	4.641133	0.87859	2.27E-4	0.0	ENSG00000170322	ENST00000304521;ENST00000446488;ENST00000524794;ENST00000524746;ENST00000531755	.	.	.	5.39	5.39	0.77823	.	0.000000	0.85682	D	0.000000	T	0.80248	0.4588	M	0.73598	2.24	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.996;0.996;0.998;0.998	T	0.82275	-0.0538	9	0.87932	D	0	-7.3116	19.1504	0.93485	0.0:1.0:0.0:0.0	.	662;652;652;677	B4DSL1;Q6P4R8;Q6P4R8-3;Q6P4R8-2	.;NFRKB_HUMAN;.;.	H	652;652;677;652;662	.	ENSP00000303800:R652H	R	-	2	0	NFRKB	129249921	1.000000	0.71417	0.954000	0.39281	0.989000	0.77384	7.452000	0.80683	2.518000	0.84900	0.655000	0.94253	CGT		0.478	NFRKB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386063.2	NM_006165		28	56	0	0	0	1	0	28	56					T	129744711	C	T	129744711	3	4	435	1	0	0	0	0	1	0	0	0	10384	536	19	1	1980	1	NFRKB	11	129744711	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	20123	129744711	5261805	5495	26420											
APLP2	334	broad.mit.edu	37	chr11	129993594	129993594	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctccaagggaaagtgcgtgcGctttatatatggtggctgcg	8	11	14	8	3	0	0	0	0	0	0	1	1	1	1	1	3	3	2	1	3	5	4	rs542688342		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:129993594G>A	ENST00000263574.5	+	7	1082	c.1010G>A	c.(1009-1011)cGc>cAc	p.R337H	APLP2_ENST00000338167.5_Missense_Mutation_p.R337H|APLP2_ENST00000539648.1_Intron|APLP2_ENST00000278756.7_Missense_Mutation_p.R347H|APLP2_ENST00000345598.5_Intron|APLP2_ENST00000528499.1_Intron|APLP2_ENST00000543137.1_Missense_Mutation_p.R244H	NM_001642.2	NP_001633.1	Q06481	APLP2_HUMAN	amyloid beta (A4) precursor-like protein 2	337	BPTI/Kunitz inhibitor. {ECO:0000255|PROSITE-ProRule:PRU00031}.				cellular copper ion homeostasis (GO:0006878)|cholesterol metabolic process (GO:0008203)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|G-protein coupled receptor signaling pathway (GO:0007186)|locomotory behavior (GO:0007626)|mating behavior (GO:0007617)|midbrain development (GO:0030901)|neuromuscular process controlling balance (GO:0050885)|regulation of epidermal growth factor-activated receptor activity (GO:0007176)|regulation of protein binding (GO:0043393)|suckling behavior (GO:0001967)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|serine-type endopeptidase inhibitor activity (GO:0004867)|transition metal ion binding (GO:0046914)			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(6)|ovary(4)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_hematologic(175;0.0429)	Breast(109;0.00586)|Lung NSC(97;0.00785)|all_lung(97;0.0154)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)		OV - Ovarian serous cystadenocarcinoma(99;0.0197)|Lung(977;0.24)		AAGTGCGTGCGCTTTATATAT	0.552																																						ENST00000263574.5																			0				NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(6)|ovary(4)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						c.(1009-1011)cGc>cAc		amyloid beta (A4) precursor-like protein 2							129	124	126					11																	129993594		2201	4297	6498	SO:0001583	missense	334				G-protein coupled receptor protein signaling pathway	integral to membrane|nucleus|plasma membrane	DNA binding|identical protein binding|serine-type endopeptidase inhibitor activity	g.chr11:129993594G>A	L19597	CCDS8486.1, CCDS44773.1, CCDS44774.1, CCDS44775.1, CCDS58196.1	11q24	2008-02-05			ENSG00000084234	ENSG00000084234			598	protein-coding gene	gene with protein product		104776		APPL2		10702673	Standard	NM_001642		Approved	APPH	uc021qsg.1	Q06481	OTTHUMG00000165767	ENST00000263574.5:c.1010G>A	11.37:g.129993594G>A	ENSP00000263574:p.Arg337His					APLP2_ENST00000528499.1_Intron|APLP2_ENST00000345598.5_Intron|APLP2_ENST00000539648.1_Intron|APLP2_ENST00000338167.5_Missense_Mutation_p.R337H|APLP2_ENST00000278756.7_Missense_Mutation_p.R347H|APLP2_ENST00000543137.1_Missense_Mutation_p.R244H	p.R337H	NM_001642.2	NP_001633.1	Q06481	APLP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.0197)|Lung(977;0.24)	7	1082	+	all_hematologic(175;0.0429)	Breast(109;0.00586)|Lung NSC(97;0.00785)|all_lung(97;0.0154)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)	337			BPTI/Kunitz inhibitor.		B3KXX9|H7BXI4|Q13861|Q14594|Q14662|Q71U10|Q7M4L3|Q9BT36	Missense_Mutation	SNP	ENST00000263574.5	37	c.1010G>A	CCDS8486.1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.327433	0.81690	.	.	ENSG00000084234	ENST00000263574;ENST00000338167;ENST00000278756;ENST00000543137	T;T;T;T	0.58210	0.35;0.35;0.35;0.35	5.87	4.97	0.65823	Proteinase inhibitor I2, Kunitz metazoa (6);	0.099805	0.64402	N	0.000001	T	0.59702	0.2213	L	0.28274	0.84	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.966	T	0.60414	-0.7268	10	0.41790	T	0.15	-18.4778	14.0675	0.64839	0.0717:0.0:0.9283:0.0	.	337;337	Q06481;Q06481-3	APLP2_HUMAN;.	H	337;337;347;244	ENSP00000263574:R337H;ENSP00000345444:R337H;ENSP00000278756:R347H;ENSP00000444122:R244H	ENSP00000263574:R337H	R	+	2	0	APLP2	129498804	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.672000	0.46850	1.495000	0.48549	0.650000	0.86243	CGC		0.552	APLP2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386109.1	NM_001642		38	51	0	0	0	1	0	38	51					A	129993594	G	A	129993594	3	1	435	1	0	0	0	0	1	0	0	0	779	1087	38	1	1036	1	APLP2	11	129993594	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	248883	129993594	5012922	5496	26421											
ST14	6768	broad.mit.edu	37	chr11	130060404	130060404	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagctgatgcgcttcaccacGcccggcttccctgacagccc	6	7	10	18	3	1	2	1	2	0	0	2	3	2	2	4	1	3	3	4	1	0	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:130060404G>A	ENST00000278742.5	+	7	1108	c.690G>A	c.(688-690)acG>acA	p.T230T		NM_021978.3	NP_068813.1	Q9Y5Y6	ST14_HUMAN	suppression of tumorigenicity 14 (colon carcinoma)	230	CUB 1. {ECO:0000255|PROSITE- ProRule:PRU00059}.				keratinocyte differentiation (GO:0030216)|proteolysis (GO:0006508)	basolateral plasma membrane (GO:0016323)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of plasma membrane (GO:0019897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|pancreas(2)|prostate(1)|skin(3)	32	all_hematologic(175;0.0429)	Lung NSC(97;0.000602)|Breast(109;0.000962)|all_lung(97;0.00126)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0183)|Lung(977;0.228)	Urokinase(DB00013)	GCTTCACCACGCCCGGCTTCC	0.692																																						ENST00000278742.5																			0				central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|pancreas(2)|prostate(1)|skin(3)	32						c.(688-690)acG>acA		suppression of tumorigenicity 14 (colon carcinoma)	Urokinase(DB00013)						28	30	29					11																	130060404		2201	4295	6496	SO:0001819	synonymous_variant	6768				proteolysis	integral to plasma membrane	serine-type endopeptidase activity	g.chr11:130060404G>A	AF118224	CCDS8487.1	11q24-q25	2011-08-31	2005-11-19		ENSG00000149418	ENSG00000149418		"Serine peptidases / Transmembrane"	11344	protein-coding gene	gene with protein product	"epithin", "matriptase"	606797		PRSS14		9925927, 10373424	Standard	NM_021978		Approved	SNC19, HAI, MT-SP1, TMPRSS14	uc001qfw.3	Q9Y5Y6	OTTHUMG00000165768	ENST00000278742.5:c.690G>A	11.37:g.130060404G>A							p.T230T	NM_021978.3	NP_068813.1	Q9Y5Y6	ST14_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.0183)|Lung(977;0.228)	7	1108	+	all_hematologic(175;0.0429)	Lung NSC(97;0.000602)|Breast(109;0.000962)|all_lung(97;0.00126)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)	230			CUB 1.		Q9BS01|Q9H3S0|Q9HB36|Q9HCA3	Silent	SNP	ENST00000278742.5	37	c.690G>A	CCDS8487.1																																																																																				0.692	ST14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386119.1			10	22	0	0	0	1	0	10	22					A	130060404	G	A	130060404	2	1	435	1	0	0	0	0	0	0	0	1	15210	1074	38	1		1	ST14	11	130060404	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	66810	130060404	4946112	5497	26422											
ZBTB44	29068	broad.mit.edu	37	chr11	130106968	130106968	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gaactttttcccacagcggtCacactgaaatggtttaattc	11	13	7	10	1	1	1	1	1	0	0	3	2	2	1	1	2	2	1	1	2	3	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:130106968C>T	ENST00000357899.4	-	5	1560	c.1288G>A	c.(1288-1290)Gac>Aac	p.D430N	ZBTB44_ENST00000525842.1_Missense_Mutation_p.D430N|ZBTB44_ENST00000530205.1_Missense_Mutation_p.D430N|ZBTB44_ENST00000397753.1_Missense_Mutation_p.D430N			Q8NCP5	ZBT44_HUMAN	zinc finger and BTB domain containing 44	430					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			autonomic_ganglia(1)|breast(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)	15	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0192)|Lung(977;0.235)		CCACAGCGGTCACACTGAAAT	0.373																																						ENST00000525842.1																			0				autonomic_ganglia(1)|breast(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)	15						c.(1288-1290)Gac>Aac		zinc finger and BTB domain containing 44							99	93	95					11																	130106968		1884	4110	5994	SO:0001583	missense	29068				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr11:130106968C>T	AK024659	CCDS44776.1, CCDS73414.1, CCDS73415.1	11q24.3	2013-01-08	2006-09-19	2006-09-19		ENSG00000196323		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	25001	protein-coding gene	gene with protein product			"BTB (POZ) domain containing 15"	BTBD15		11042152	Standard	NM_014155		Approved	HSPC063, ZNF851	uc001qgb.4	Q8NCP5		ENST00000357899.4:c.1288G>A	11.37:g.130106968C>T	ENSP00000350574:p.Asp430Asn					ZBTB44_ENST00000357899.4_Missense_Mutation_p.D430N|ZBTB44_ENST00000530205.1_Missense_Mutation_p.D430N|ZBTB44_ENST00000397753.1_Missense_Mutation_p.D430N	p.D430N	NM_014155.4	NP_054874.3	Q8NCP5	ZBT44_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.0192)|Lung(977;0.235)	5	1655	-	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)	430					Q6IPT8|Q86VJ7|Q86XX5	Missense_Mutation	SNP	ENST00000357899.4	37	c.1288G>A		.	.	.	.	.	.	.	.	.	.	C	29.2	4.988911	0.93106	.	.	ENSG00000196323	ENST00000525842;ENST00000397753;ENST00000445008;ENST00000357899;ENST00000530205	T;T;T;T;T	0.19532	2.14;2.14;2.14;2.14;2.14	5.36	5.36	0.76844	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.045291	0.85682	D	0.000000	T	0.36936	0.0985	L	0.34521	1.04	0.80722	D	1	D;D;D	0.71674	0.998;0.997;0.998	D;D;D	0.81914	0.995;0.994;0.991	T	0.02238	-1.1190	10	0.30078	T	0.28	.	19.4578	0.94903	0.0:1.0:0.0:0.0	.	430;430;430	Q8NCP5-3;Q8NCP5;Q8NCP5-2	.;ZBT44_HUMAN;.	N	430	ENSP00000433457:D430N;ENSP00000380861:D430N;ENSP00000408079:D430N;ENSP00000350574:D430N;ENSP00000434177:D430N	ENSP00000350574:D430N	D	-	1	0	ZBTB44	129612178	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.414000	0.80117	2.675000	0.91044	0.585000	0.79938	GAC		0.373	ZBTB44-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000386126.1	NM_014155		11	40	0	0	0	1	0	11	40					T	130106968	C	T	130106968	3	4	435	1	0	0	0	0	1	0	0	0	17542	826	29	3	81	3	ZBTB44	11	130106968	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	46564	130106968	4899548	5498	26423											
ADAMTS15	170689	broad.mit.edu	37	chr11	130332480	130332480	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	accctgagccagcagtgcgaGctggcttttggcgtgggctc	5	9	15	12	2	0	1	0	1	0	0	1	2	0	1	2	3	4	4	2	3	0	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:130332480G>A	ENST00000299164.2	+	4	1347	c.1347G>A	c.(1345-1347)gaG>gaA	p.E449E		NM_139055.2	NP_620686.1	Q8TE58	ATS15_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 15	449	Disintegrin.					proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(16)|pancreas(1)|prostate(1)|skin(8)|urinary_tract(1)	36	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0631)|Lung(977;0.215)		AGCAGTGCGAGCTGGCTTTTG	0.642																																						ENST00000299164.2																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(16)|pancreas(1)|prostate(1)|skin(8)|urinary_tract(1)	36						c.(1345-1347)gaG>gaA		ADAM metallopeptidase with thrombospondin type 1 motif, 15							63	55	58					11																	130332480		2201	4297	6498	SO:0001819	synonymous_variant	170689				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr11:130332480G>A	AJ315733	CCDS8488.1	11q25	2008-02-01	2005-08-19		ENSG00000166106	ENSG00000166106		"ADAM metallopeptidases with thrombospondin type 1 motif"	16305	protein-coding gene	gene with protein product		607509	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 15"			11867212	Standard	NM_139055		Approved		uc010scd.2	Q8TE58	OTTHUMG00000165657	ENST00000299164.2:c.1347G>A	11.37:g.130332480G>A							p.E449E	NM_139055.2	NP_620686.1	Q8TE58	ATS15_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.0631)|Lung(977;0.215)	4	1347	+	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)	449			Disintegrin.		Q32MI6	Silent	SNP	ENST00000299164.2	37	c.1347G>A	CCDS8488.1																																																																																				0.642	ADAMTS15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385638.1	NM_139055		19	44	0	0	0	1	0	19	44					A	130332480	G	A	130332480	2	1	435	1	0	0	0	0	0	0	0	1	260	962	34	3		3	ADAMTS15	11	130332480	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	225512	130332480	4674036	5499	26424											
SNX19	399979	broad.mit.edu	37	chr11	130775960	130775960	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tctggggcttttgttggctgCatttccagtaactttgtctg	4	18	11	8	0	2	0	0	0	2	0	3	0	3	0	1	3	2	5	1	3	1	6			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:130775960C>T	ENST00000265909.4	-	7	2900	c.2331G>A	c.(2329-2331)atG>atA	p.M777I	SNX19_ENST00000534726.1_Missense_Mutation_p.M17I|SNX19_ENST00000539184.1_Missense_Mutation_p.M220I|SNX19_ENST00000545537.1_Missense_Mutation_p.M17I|SNX19_ENST00000533318.1_5'UTR|SNX19_ENST00000533214.1_Missense_Mutation_p.M760I|SNX19_ENST00000530356.1_Missense_Mutation_p.M157I|SNX19_ENST00000528555.1_Missense_Mutation_p.M157I	NM_014758.2	NP_055573	Q92543	SNX19_HUMAN	sorting nexin 19	777					protein transport (GO:0015031)	cytoplasmic vesicle (GO:0031410)|membrane (GO:0016020)	phosphatidylinositol binding (GO:0035091)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(8)|ovary(3)|prostate(1)|skin(6)|urinary_tract(1)	35	all_hematologic(175;0.0597)	Lung NSC(97;0.000272)|all_lung(97;0.000608)|Breast(109;0.000962)|all_neural(223;0.0298)|Medulloblastoma(222;0.0425)		OV - Ovarian serous cystadenocarcinoma(99;0.0195)|Lung(977;0.233)		TTGTTGGCTGCATTTCCAGTA	0.468																																						ENST00000265909.4																			0				central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(8)|ovary(3)|prostate(1)|skin(6)|urinary_tract(1)	35						c.(2329-2331)atG>atA		sorting nexin 19							130	115	120					11																	130775960		2201	4297	6498	SO:0001583	missense	399979				cell communication|protein transport	cytoplasmic vesicle membrane	phosphatidylinositol binding|protein binding	g.chr11:130775960C>T	D87443	CCDS31721.1, CCDS73416.1	11q25	2010-04-20			ENSG00000120451	ENSG00000120451		"Sorting nexins"	21532	protein-coding gene	gene with protein product							Standard	NM_014758		Approved	KIAA0254, CHET8	uc001qgk.4	Q92543	OTTHUMG00000165663	ENST00000265909.4:c.2331G>A	11.37:g.130775960C>T	ENSP00000265909:p.Met777Ile					SNX19_ENST00000533214.1_Missense_Mutation_p.M760I|SNX19_ENST00000530356.1_Missense_Mutation_p.M157I|SNX19_ENST00000545537.1_Missense_Mutation_p.M17I|SNX19_ENST00000528555.1_Missense_Mutation_p.M157I|SNX19_ENST00000539184.1_Missense_Mutation_p.M220I|SNX19_ENST00000533318.1_5'UTR|SNX19_ENST00000534726.1_Missense_Mutation_p.M17I	p.M777I	NM_014758.2	NP_055573.2	Q92543	SNX19_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.0195)|Lung(977;0.233)	7	2900	-	all_hematologic(175;0.0597)	Lung NSC(97;0.000272)|all_lung(97;0.000608)|Breast(109;0.000962)|all_neural(223;0.0298)|Medulloblastoma(222;0.0425)	777					E9PKB9|Q8IV55	Missense_Mutation	SNP	ENST00000265909.4	37	c.2331G>A	CCDS31721.1	.	.	.	.	.	.	.	.	.	.	C	8.898	0.955651	0.18507	.	.	ENSG00000120451	ENST00000265909;ENST00000534726;ENST00000545537;ENST00000528555;ENST00000530356;ENST00000539184;ENST00000533214	T;T;T;T;T;T;T	0.42900	0.96;0.96;0.96;0.96;0.96;0.96;0.96	5.61	-3.53	0.04667	.	0.997747	0.08125	N	0.994166	T	0.23451	0.0567	N	0.22421	0.69	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.0;0.001	T	0.26849	-1.0091	10	0.20519	T	0.43	-0.4798	7.0959	0.25309	0.0:0.329:0.2045:0.4665	.	220;760;777	F5H5D1;E9PKB9;Q92543	.;.;SNX19_HUMAN	I	777;17;17;157;157;220;760	ENSP00000265909:M777I;ENSP00000433699:M17I;ENSP00000437982:M17I;ENSP00000435122:M157I;ENSP00000432307:M157I;ENSP00000443480:M220I;ENSP00000435390:M760I	ENSP00000265909:M777I	M	-	3	0	SNX19	130281170	0.000000	0.05858	0.431000	0.26735	0.798000	0.45092	-0.414000	0.07114	-0.288000	0.09051	0.655000	0.94253	ATG		0.468	SNX19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385649.1	NM_014758		22	34	0	0	0	1	0	22	34					T	130775960	C	T	130775960	3	4	435	1	0	0	0	0	1	0	0	0	14890	710	25	3	667	3	SNX19	11	130775960	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	443480	130775960	4230556	5500	26425											
SNX19	399979	broad.mit.edu	37	chr11	130784663	130784663	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tcctgtcagagagaaagctgCctggagtcatgagcatgatg	11	9	13	8	0	2	4	2	2	0	2	3	6	3	5	2	1	3	2	2	1	1	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:130784663C>T	ENST00000265909.4	-	1	1741	c.1172G>A	c.(1171-1173)gGc>gAc	p.G391D	SNX19_ENST00000539184.1_Intron|SNX19_ENST00000533318.1_Intron|SNX19_ENST00000533214.1_Missense_Mutation_p.G391D|SNX19_ENST00000530356.1_Intron|SNX19_ENST00000528555.1_Intron	NM_014758.2	NP_055573	Q92543	SNX19_HUMAN	sorting nexin 19	391					protein transport (GO:0015031)	cytoplasmic vesicle (GO:0031410)|membrane (GO:0016020)	phosphatidylinositol binding (GO:0035091)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(8)|ovary(3)|prostate(1)|skin(6)|urinary_tract(1)	35	all_hematologic(175;0.0597)	Lung NSC(97;0.000272)|all_lung(97;0.000608)|Breast(109;0.000962)|all_neural(223;0.0298)|Medulloblastoma(222;0.0425)		OV - Ovarian serous cystadenocarcinoma(99;0.0195)|Lung(977;0.233)		GAGAAAGCTGCCTGGAGTCAT	0.532																																						ENST00000265909.4																			0				central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(8)|ovary(3)|prostate(1)|skin(6)|urinary_tract(1)	35						c.(1171-1173)gGc>gAc		sorting nexin 19							67	66	66					11																	130784663		2201	4297	6498	SO:0001583	missense	399979				cell communication|protein transport	cytoplasmic vesicle membrane	phosphatidylinositol binding|protein binding	g.chr11:130784663C>T	D87443	CCDS31721.1, CCDS73416.1	11q25	2010-04-20			ENSG00000120451	ENSG00000120451		"Sorting nexins"	21532	protein-coding gene	gene with protein product							Standard	NM_014758		Approved	KIAA0254, CHET8	uc001qgk.4	Q92543	OTTHUMG00000165663	ENST00000265909.4:c.1172G>A	11.37:g.130784663C>T	ENSP00000265909:p.Gly391Asp					SNX19_ENST00000533214.1_Missense_Mutation_p.G391D|SNX19_ENST00000530356.1_Intron|SNX19_ENST00000528555.1_Intron|SNX19_ENST00000539184.1_Intron|SNX19_ENST00000533318.1_Intron	p.G391D	NM_014758.2	NP_055573.2	Q92543	SNX19_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.0195)|Lung(977;0.233)	1	1741	-	all_hematologic(175;0.0597)	Lung NSC(97;0.000272)|all_lung(97;0.000608)|Breast(109;0.000962)|all_neural(223;0.0298)|Medulloblastoma(222;0.0425)	391					E9PKB9|Q8IV55	Missense_Mutation	SNP	ENST00000265909.4	37	c.1172G>A	CCDS31721.1	.	.	.	.	.	.	.	.	.	.	C	11.59	1.683765	0.29872	.	.	ENSG00000120451	ENST00000265909;ENST00000533214	T;T	0.20069	2.1;2.1	5.1	5.1	0.69264	.	0.323776	0.32372	N	0.006200	T	0.14614	0.0353	L	0.32530	0.975	0.80722	D	1	B;B	0.27498	0.18;0.11	B;B	0.23150	0.044;0.016	T	0.06445	-1.0826	10	0.28530	T	0.3	-14.758	9.3757	0.38281	0.0:0.8439:0.0:0.1561	.	391;391	E9PKB9;Q92543	.;SNX19_HUMAN	D	391	ENSP00000265909:G391D;ENSP00000435390:G391D	ENSP00000265909:G391D	G	-	2	0	SNX19	130289873	0.663000	0.27448	0.999000	0.59377	0.983000	0.72400	1.301000	0.33447	2.660000	0.90430	0.650000	0.86243	GGC		0.532	SNX19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385649.1	NM_014758		5	31	0	0	0	1	0	5	31					T	130784663	C	T	130784663	3	4	435	1	0	0	0	0	1	0	0	0	14890	739	26	3	1850	3	SNX19	11	130784663	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	8703	130784663	4221853	5501	26426											
NTM	50863	broad.mit.edu	37	chr11	132177679	132177679	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cagtgcctccaatgacgtggCcgcgcccgtggtacggagag	7	6	15	13	5	0	2	0	1	0	1	1	3	1	2	4	3	2	1	4	3	2	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:132177679C>T	ENST00000374786.1	+	4	1102	c.623C>T	c.(622-624)gCc>gTc	p.A208V	NTM_ENST00000425719.2_Missense_Mutation_p.A208V|NTM_ENST00000374791.3_Missense_Mutation_p.A208V|NTM_ENST00000427481.2_Missense_Mutation_p.A199V|NTM_ENST00000474900.1_3'UTR|NTM_ENST00000374784.1_Missense_Mutation_p.A208V|NTM_ENST00000539799.1_Missense_Mutation_p.A208V	NM_001144058.1|NM_016522.2	NP_001137530.1|NP_057606.1	Q9P121	NTRI_HUMAN	neurotrimin	208	Ig-like C2-type 2.				cell adhesion (GO:0007155)|neuron recognition (GO:0008038)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(9)|lung(30)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	56						AATGACGTGGCCGCGCCCGTG	0.582																																						ENST00000374786.1																			0				breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(9)|lung(30)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	56						c.(622-624)gCc>gTc		neurotrimin							90	78	82					11																	132177679		2201	4297	6498	SO:0001583	missense	50863				cell adhesion|neuron recognition	anchored to membrane|plasma membrane		g.chr11:132177679C>T	AF126426	CCDS8491.1, CCDS41733.1, CCDS44777.1, CCDS44778.1	11q25	2013-01-11			ENSG00000182667	ENSG00000182667		"Immunoglobulin superfamily / I-set domain containing"	17941	protein-coding gene	gene with protein product	"neurotrimin", "IgLON family member 2"	607938				7891157	Standard	NM_001048209		Approved	HNT, NTRI, IGLON2	uc001qgq.3	Q9P121	OTTHUMG00000066364	ENST00000374786.1:c.623C>T	11.37:g.132177679C>T	ENSP00000363918:p.Ala208Val					NTM_ENST00000374784.1_Missense_Mutation_p.A208V|NTM_ENST00000474900.1_3'UTR|NTM_ENST00000539799.1_Missense_Mutation_p.A208V|NTM_ENST00000374791.3_Missense_Mutation_p.A208V|NTM_ENST00000427481.2_Missense_Mutation_p.A199V|NTM_ENST00000425719.2_Missense_Mutation_p.A208V	p.A208V	NM_001144058.1|NM_016522.2	NP_001137530.1|NP_057606.1	Q9P121	NTRI_HUMAN			4	1102	+			208			Ig-like C2-type 2.		A0MTT2|Q6UXJ3|Q86VJ9	Missense_Mutation	SNP	ENST00000374786.1	37	c.623C>T	CCDS8491.1	.	.	.	.	.	.	.	.	.	.	C	32	5.142676	0.94560	.	.	ENSG00000182667	ENST00000374791;ENST00000539799;ENST00000427481;ENST00000374786;ENST00000425719;ENST00000374784	T;T;T;T;T;T	0.27402	1.67;1.67;1.67;1.67;1.67;1.67	5.78	5.78	0.91487	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);	0.104593	0.64402	D	0.000002	T	0.60248	0.2254	M	0.84082	2.675	0.51233	D	0.999911	P;D;D;D;P;D	0.59357	0.849;0.979;0.985;0.962;0.953;0.974	P;P;P;P;P;P	0.62740	0.635;0.906;0.885;0.827;0.839;0.875	T	0.63134	-0.6705	10	0.87932	D	0	-12.7999	20.3754	0.98918	0.0:1.0:0.0:0.0	.	208;199;208;208;208;208	B7Z1Z5;B7Z1I4;Q9P121-4;Q9P121;Q9P121-3;Q9P121-2	.;.;.;NTRI_HUMAN;.;.	V	208;208;199;208;208;208	ENSP00000363923:A208V;ENSP00000437668:A208V;ENSP00000416320:A199V;ENSP00000363918:A208V;ENSP00000396722:A208V;ENSP00000363916:A208V	ENSP00000363916:A208V	A	+	2	0	NTM	131682889	1.000000	0.71417	0.971000	0.41717	0.544000	0.35116	7.445000	0.80570	2.894000	0.99253	0.591000	0.81541	GCC		0.582	NTM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000141937.1	NM_016522		13	19	0	0	0	1	0	13	19					T	132177679	C	T	132177679	3	4	435	1	0	0	0	0	1	0	0	0	10699	739	26	3	723	3	NTM	11	132177679	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	1393016	132177679	2828837	5502	26427											
OPCML	4978	broad.mit.edu	37	chr11	132306038	132306038	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttcgtggccacacaagtataGttcccataatccttttctga	10	14	6	11	1	1	1	0	1	1	0	4	1	3	1	3	1	0	2	3	1	4	7			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:132306038G>A	ENST00000331898.7	-	6	1457	c.879C>T	c.(877-879)aaC>aaT	p.N293N	OPCML_ENST00000374778.4_Silent_p.N252N|OPCML_ENST00000541867.1_Silent_p.N293N|OPCML_ENST00000529038.1_5'UTR|OPCML_ENST00000524381.1_Silent_p.N286N	NM_002545.3	NP_002536.1	Q14982	OPCM_HUMAN	opioid binding protein/cell adhesion molecule-like	293	Ig-like C2-type 3.				cell adhesion (GO:0007155)|neuron recognition (GO:0008038)|opioid receptor signaling pathway (GO:0038003)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	opioid receptor activity (GO:0004985)			endometrium(5)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|skin(2)|urinary_tract(8)	47	all_hematologic(175;0.019)	all_cancers(12;5.86e-24)|all_epithelial(12;2.65e-17)|all_lung(97;2.89e-05)|Lung NSC(97;6.16e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0269)|all_neural(223;0.0326)|Esophageal squamous(93;0.129)		all cancers(11;4.61e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.012)		CACAAGTATAGTTCCCATAAT	0.488																																						ENST00000331898.7																			0				endometrium(5)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|skin(2)|urinary_tract(8)	47						c.(877-879)aaC>aaT		opioid binding protein/cell adhesion molecule-like							147	129	136					11																	132306038		2201	4297	6498	SO:0001819	synonymous_variant	4978				cell adhesion|neuron recognition	anchored to membrane|integral to plasma membrane	opioid receptor activity	g.chr11:132306038G>A	BX537377	CCDS8492.1, CCDS31722.1	11q25	2013-01-11	2001-11-28		ENSG00000183715	ENSG00000183715		"Immunoglobulin superfamily / I-set domain containing"	8143	protein-coding gene	gene with protein product	"IgLON family member 1"	600632	"opioid-binding protein/cell adhesion molecule-like"			8244387	Standard	XM_005271578		Approved	OPCM, OBCAM, IGLON1	uc001qgs.3	Q14982	OTTHUMG00000163658	ENST00000331898.7:c.879C>T	11.37:g.132306038G>A						OPCML_ENST00000524381.1_Silent_p.N286N|OPCML_ENST00000541867.1_Silent_p.N293N|OPCML_ENST00000374778.4_Silent_p.N252N|OPCML_ENST00000529038.1_5'UTR	p.N293N	NM_002545.3	NP_002536.1	Q14982	OPCM_HUMAN		all cancers(11;4.61e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.012)	6	1457	-	all_hematologic(175;0.019)	all_cancers(12;5.86e-24)|all_epithelial(12;2.65e-17)|all_lung(97;2.89e-05)|Lung NSC(97;6.16e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0269)|all_neural(223;0.0326)|Esophageal squamous(93;0.129)	293			Ig-like C2-type 3.		B2CZX2|B7ZLQ1|Q17RN7|Q7Z3W6	Silent	SNP	ENST00000331898.7	37	c.879C>T	CCDS8492.1																																																																																				0.488	OPCML-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374689.3	NM_001012393		23	34	0	0	0	1	0	23	34					A	132306038	G	A	132306038	2	1	435	1	0	0	0	0	0	0	0	1	10874	1020	36	3		3	OPCML	11	132306038	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	128359	132306038	2700478	5503	26428											
OPCML	4978	broad.mit.edu	37	chr11	132398972	132398972	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacccttgactgacaggtgtCtccatgtcacagttggctct	7	13	9	12	0	3	2	1	2	2	0	4	2	3	2	2	2	1	2	2	2	1	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:132398972C>A	ENST00000331898.7	-	3	1087	c.509G>T	c.(508-510)aGa>aTa	p.R170I	OPCML_ENST00000374778.4_Missense_Mutation_p.R129I|OPCML_ENST00000541867.1_Missense_Mutation_p.R170I|OPCML_ENST00000529038.1_5'UTR|OPCML_ENST00000524381.1_Missense_Mutation_p.R163I	NM_002545.3	NP_002536.1	Q14982	OPCM_HUMAN	opioid binding protein/cell adhesion molecule-like	170	Ig-like C2-type 2.				cell adhesion (GO:0007155)|neuron recognition (GO:0008038)|opioid receptor signaling pathway (GO:0038003)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	opioid receptor activity (GO:0004985)	p.R170K(1)|p.R163K(1)		endometrium(5)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|skin(2)|urinary_tract(8)	47	all_hematologic(175;0.019)	all_cancers(12;5.86e-24)|all_epithelial(12;2.65e-17)|all_lung(97;2.89e-05)|Lung NSC(97;6.16e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0269)|all_neural(223;0.0326)|Esophageal squamous(93;0.129)		all cancers(11;4.61e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.012)		TGACAGGTGTCTCCATGTCAC	0.483																																						ENST00000331898.7																			2	Substitution - Missense(2)	p.R170K(1)|p.R163K(1)	lung(2)	endometrium(5)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|skin(2)|urinary_tract(8)	47						c.(508-510)aGa>aTa		opioid binding protein/cell adhesion molecule-like							137	101	113					11																	132398972		2201	4297	6498	SO:0001583	missense	4978				cell adhesion|neuron recognition	anchored to membrane|integral to plasma membrane	opioid receptor activity	g.chr11:132398972C>A	BX537377	CCDS8492.1, CCDS31722.1	11q25	2013-01-11	2001-11-28		ENSG00000183715	ENSG00000183715		"Immunoglobulin superfamily / I-set domain containing"	8143	protein-coding gene	gene with protein product	"IgLON family member 1"	600632	"opioid-binding protein/cell adhesion molecule-like"			8244387	Standard	XM_005271578		Approved	OPCM, OBCAM, IGLON1	uc001qgs.3	Q14982	OTTHUMG00000163658	ENST00000331898.7:c.509G>T	11.37:g.132398972C>A	ENSP00000330862:p.Arg170Ile					OPCML_ENST00000524381.1_Missense_Mutation_p.R163I|OPCML_ENST00000541867.1_Missense_Mutation_p.R170I|OPCML_ENST00000374778.4_Missense_Mutation_p.R129I|OPCML_ENST00000529038.1_5'UTR	p.R170I	NM_002545.3	NP_002536.1	Q14982	OPCM_HUMAN		all cancers(11;4.61e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.012)	3	1087	-	all_hematologic(175;0.019)	all_cancers(12;5.86e-24)|all_epithelial(12;2.65e-17)|all_lung(97;2.89e-05)|Lung NSC(97;6.16e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0269)|all_neural(223;0.0326)|Esophageal squamous(93;0.129)	170			Ig-like C2-type 2.		B2CZX2|B7ZLQ1|Q17RN7|Q7Z3W6	Missense_Mutation	SNP	ENST00000331898.7	37	c.509G>T	CCDS8492.1	.	.	.	.	.	.	.	.	.	.	C	22.2	4.262525	0.80358	.	.	ENSG00000183715	ENST00000331898;ENST00000524381;ENST00000374778;ENST00000416724;ENST00000541867	T;T;T;T	0.38887	1.32;1.32;1.11;1.11	5.9	5.9	0.94986	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.102861	0.64402	D	0.000004	T	0.62720	0.2451	M	0.74258	2.255	0.58432	D	0.999994	D;P;P;D	0.60160	0.962;0.927;0.909;0.987	P;P;P;D	0.67900	0.853;0.905;0.853;0.954	T	0.65207	-0.6224	10	0.87932	D	0	-16.3492	13.0611	0.59008	0.0:0.9231:0.0:0.0769	.	170;163;170;170	B7ZLQ1;Q7Z3W6;B7ZLQ0;Q14982	.;.;.;OPCM_HUMAN	I	170;163;129;137;170	ENSP00000330862:R170I;ENSP00000434750:R163I;ENSP00000363910:R129I;ENSP00000445496:R170I	ENSP00000330862:R170I	R	-	2	0	OPCML	131904182	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	3.085000	0.50151	2.800000	0.96347	0.455000	0.32223	AGA		0.483	OPCML-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374689.3	NM_001012393		8	26	1	0	5.18039e-06	1	5.37127e-06	8	26					A	132398972	C	A	132398972	3	1	435	1	0	0	0	0	1	0	0	0	10874	913	32	5	548	5	OPCML	11	132398972	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	92934	132398972	2607544	5504	26429											
GLB1L3	112937	broad.mit.edu	37	chr11	134163074	134163074	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	atttgcaaaaacttcaccagGatactttcaatcagcttcat	14	13	4	10	0	4	0	4	0	0	0	4	1	4	1	1	1	4	2	1	1	4	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:134163074G>A	ENST00000431683.2	+	9	847	c.847G>A	c.(847-849)Gat>Aat	p.D283N	GLB1L3_ENST00000389887.5_Missense_Mutation_p.D283N	NM_001080407.2	NP_001073876.2	Q8NCI6	GLBL3_HUMAN	galactosidase, beta 1-like 3	283					carbohydrate metabolic process (GO:0005975)		beta-galactosidase activity (GO:0004565)			endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|pancreas(1)	13	all_hematologic(175;0.127)	all_cancers(12;5.52e-23)|all_epithelial(12;2.15e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000162)|all_neural(223;0.0182)|Medulloblastoma(222;0.0208)|Esophageal squamous(93;0.0559)		Epithelial(10;1.3e-11)|all cancers(11;2.07e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000873)|Lung(977;0.222)		ACTTCACCAGGATACTTTCAA	0.473																																						ENST00000389887.5																			0				endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|pancreas(1)	13						c.(847-849)Gat>Aat		galactosidase, beta 1-like 3							95	90	91					11																	134163074		1947	4156	6103	SO:0001583	missense	112937				carbohydrate metabolic process		cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds	g.chr11:134163074G>A		CCDS44780.1	11q25	2008-11-06	2008-01-29		ENSG00000166105	ENSG00000166105			25147	protein-coding gene	gene with protein product						12477932	Standard	NM_001080407		Approved	FLJ90231	uc009zdf.3	Q8NCI6	OTTHUMG00000133524	ENST00000431683.2:c.847G>A	11.37:g.134163074G>A	ENSP00000396615:p.Asp283Asn					GLB1L3_ENST00000431683.2_Missense_Mutation_p.D283N	p.D283N			Q8NCI6	GLBL3_HUMAN		Epithelial(10;1.3e-11)|all cancers(11;2.07e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000873)|Lung(977;0.222)	9	3343	+	all_hematologic(175;0.127)	all_cancers(12;5.52e-23)|all_epithelial(12;2.15e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000162)|all_neural(223;0.0182)|Medulloblastoma(222;0.0208)|Esophageal squamous(93;0.0559)	283					A6NEM0|A6NN15|Q6P3S3|Q96FF8	Missense_Mutation	SNP	ENST00000431683.2	37	c.847G>A	CCDS44780.1	.	.	.	.	.	.	.	.	.	.	G	7.887	0.731503	0.15507	.	.	ENSG00000166105	ENST00000389887;ENST00000431683	D;D	0.97924	-4.06;-4.61	4.32	-8.64	0.00874	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	.	.	.	.	D	0.92548	0.7633	N	0.25992	0.78	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.10450	0.005;0.002	T	0.82129	-0.0610	9	0.33141	T	0.24	.	9.7055	0.40214	0.6476:0.0:0.2513:0.1011	.	283;283	Q8NCI6-4;Q8NCI6	.;GLBL3_HUMAN	N	283	ENSP00000374537:D283N;ENSP00000396615:D283N	ENSP00000374537:D283N	D	+	1	0	GLB1L3	133668284	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.158000	0.03153	-2.103000	0.00844	-1.888000	0.00539	GAT		0.473	GLB1L3-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393625.1	NM_138416		8	16	0	0	0	1	0	8	16					A	134163074	G	A	134163074	3	1	435	1	0	0	0	0	1	0	0	0	6430	1174	41	3	881	3	GLB1L3	11	134163074	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	1764102	134163074	843442	5505	26430											
SLC6A12	6539	broad.mit.edu	37	chr12	304491	304491	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agctggaagatgtacatcccGccctgtggggagagcgtgga	9	7	16	9	2	0	2	0	0	0	2	1	5	1	4	2	4	3	2	2	4	2	1	rs374234039		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:304491G>A	ENST00000428720.1	-	13	2072	c.1329C>T	c.(1327-1329)ggC>ggT	p.G443G	RP11-283I3.1_ENST00000544067.1_RNA|SLC6A12_ENST00000538272.1_5'Flank|SLC6A12_ENST00000359674.4_Silent_p.G443G|SLC6A12_ENST00000397296.2_Silent_p.G443G|SLC6A12_ENST00000424061.2_Silent_p.G443G|SLC6A12_ENST00000536824.1_Silent_p.G443G	NM_001122848.2	NP_001116320.1	P48065	S6A12_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 12	443					amino acid transport (GO:0006865)|cellular hyperosmotic response (GO:0071474)|cellular water homeostasis (GO:0009992)|ion transport (GO:0006811)|neurotransmitter secretion (GO:0007269)|response to organic substance (GO:0010033)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	gamma-aminobutyric acid:sodium symporter activity (GO:0005332)|neurotransmitter:sodium symporter activity (GO:0005328)			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(8)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	26	all_cancers(10;0.0172)|all_epithelial(11;0.0283)|all_lung(10;0.0392)|Lung NSC(10;0.0567)|Ovarian(42;0.142)		OV - Ovarian serous cystadenocarcinoma(31;0.00227)			TGTACATCCCGCCCTGTGGGG	0.562																																						ENST00000428720.1																			0				central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(8)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	26						c.(1327-1329)ggC>ggT		solute carrier family 6 (neurotransmitter transporter), member 12		G	,,,	0,4406		0,0,2203	154	127	136		1329,1329,1329,1329	0	1	12		136	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	SLC6A12	NM_001122847.2,NM_001122848.2,NM_001206931.1,NM_003044.4	,,,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,,,	443/615,443/615,443/615,443/615	304491	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	6539				cellular nitrogen compound metabolic process|neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity	g.chr12:304491G>A	L42300	CCDS8501.1	12p13	2013-07-19	2013-07-19		ENSG00000111181	ENSG00000111181		"Solute carriers"	11045	protein-coding gene	gene with protein product	"betaine/GABA transporter-1"	603080	"solute carrier family 6 (neurotransmitter transporter, betaine/GABA), member 12"			7589472	Standard	NM_003044		Approved	BGT-1	uc009zdh.2	P48065	OTTHUMG00000090309	ENST00000428720.1:c.1329C>T	12.37:g.304491G>A						SLC6A12_ENST00000424061.2_Silent_p.G443G|SLC6A12_ENST00000397296.2_Silent_p.G443G|SLC6A12_ENST00000359674.4_Silent_p.G443G|SLC6A12_ENST00000536824.1_Silent_p.G443G	p.G443G	NM_001122848.2	NP_001116320.1	P48065	S6A12_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00227)		13	2072	-	all_cancers(10;0.0172)|all_epithelial(11;0.0283)|all_lung(10;0.0392)|Lung NSC(10;0.0567)|Ovarian(42;0.142)		443					A0AV52|B2R992|D3DUN8	Silent	SNP	ENST00000428720.1	37	c.1329C>T	CCDS8501.1																																																																																				0.562	SLC6A12-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206671.2	NM_003044		17	19	0	0	0	1	0	17	19					A	304491	G	A	304491	2	1	435	1	0	0	0	0	0	0	0	1	14675	1074	38	1		1	SLC6A12	12	304491	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08		304491	133547404	5506	26431											
SLC6A13	6540	broad.mit.edu	37	chr12	333659	333659	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caccacagcccgcgggtaagCgatgaaagccaggccagggc	11	2	14	14	3	0	1	0	1	0	0	0	2	0	1	4	3	3	1	4	3	2	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:333659C>T	ENST00000343164.4	-	10	1133	c.1081G>A	c.(1081-1083)Gct>Act	p.A361T	SLC6A13_ENST00000445055.2_Missense_Mutation_p.A269T|SLC6A13_ENST00000539668.1_5'Flank	NM_016615.4	NP_057699.2	Q9NSD5	S6A13_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 13	361					neurotransmitter secretion (GO:0007269)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	gamma-aminobutyric acid:sodium symporter activity (GO:0005332)|neurotransmitter:sodium symporter activity (GO:0005328)			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(1)	28	all_cancers(10;0.0416)|all_epithelial(11;0.0537)|all_lung(10;0.0989)|Lung NSC(10;0.139)|Ovarian(42;0.142)		OV - Ovarian serous cystadenocarcinoma(31;0.00153)|BRCA - Breast invasive adenocarcinoma(9;0.239)			CGCGGGTAAGCGATGAAAGCC	0.622																																						ENST00000343164.4																			0				NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(1)	28						c.(1081-1083)Gct>Act		solute carrier family 6 (neurotransmitter transporter), member 13							99	88	92					12																	333659		2202	4299	6501	SO:0001583	missense	6540				neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity	g.chr12:333659C>T	U76343	CCDS8502.1, CCDS53729.1, CCDS58198.1	12p13.33	2013-07-19	2013-07-19		ENSG00000010379	ENSG00000010379		"Solute carriers"	11046	protein-coding gene	gene with protein product	"GABA transporter 2"	615097	"solute carrier family 6 (neurotransmitter transporter, GABA), member 13"				Standard	NM_001243392		Approved	GAT2	uc001qic.2	Q9NSD5	OTTHUMG00000168053	ENST00000343164.4:c.1081G>A	12.37:g.333659C>T	ENSP00000339260:p.Ala361Thr					SLC6A13_ENST00000445055.2_Missense_Mutation_p.A269T	p.A361T	NM_016615.4	NP_057699.2	Q9NSD5	S6A13_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00153)|BRCA - Breast invasive adenocarcinoma(9;0.239)		10	1133	-	all_cancers(10;0.0416)|all_epithelial(11;0.0537)|all_lung(10;0.0989)|Lung NSC(10;0.139)|Ovarian(42;0.142)		361					B4DJL1|Q8TCC2|Q8WW56	Missense_Mutation	SNP	ENST00000343164.4	37	c.1081G>A	CCDS8502.1	.	.	.	.	.	.	.	.	.	.	C	35	5.483684	0.96307	.	.	ENSG00000010379	ENST00000445055;ENST00000313154;ENST00000343164	T;T	0.73789	-0.78;-0.78	5.61	5.61	0.85477	.	0.047636	0.85682	D	0.000000	D	0.85805	0.5782	M	0.66378	2.025	0.80722	D	1	D;D;D	0.89917	1.0;0.989;0.989	D;P;D	0.85130	0.997;0.853;0.939	D	0.85484	0.1181	10	0.52906	T	0.07	.	19.6362	0.95735	0.0:1.0:0.0:0.0	.	269;340;361	B4DJL1;B4DJS3;Q9NSD5	.;.;S6A13_HUMAN	T	269;340;361	ENSP00000407104:A269T;ENSP00000339260:A361T	ENSP00000318097:A340T	A	-	1	0	SLC6A13	203920	1.000000	0.71417	1.000000	0.80357	0.793000	0.44817	6.096000	0.71446	2.646000	0.89796	0.448000	0.29417	GCT		0.622	SLC6A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397801.1	NM_016615		4	25	0	0	0	1	0	4	25					T	333659	C	T	333659	3	4	435	1	0	0	0	0	1	0	0	0	14676	768	27	1	751	1	SLC6A13	12	333659	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	29168	333659	133518236	5507	26432											
SLC6A13	6540	broad.mit.edu	37	chr12	347148	347148	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaggtaccattcagggagccGttggtcttctggaactccat	8	11	12	10	1	3	0	1	0	2	0	4	3	4	2	3	4	3	2	3	4	2	4	rs144376533	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:347148G>A	ENST00000343164.4	-	5	559	c.507C>T	c.(505-507)aaC>aaT	p.N169N	SLC6A13_ENST00000445055.2_Silent_p.N77N	NM_016615.4	NP_057699.2	Q9NSD5	S6A13_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 13	169					neurotransmitter secretion (GO:0007269)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	gamma-aminobutyric acid:sodium symporter activity (GO:0005332)|neurotransmitter:sodium symporter activity (GO:0005328)			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(1)	28	all_cancers(10;0.0416)|all_epithelial(11;0.0537)|all_lung(10;0.0989)|Lung NSC(10;0.139)|Ovarian(42;0.142)		OV - Ovarian serous cystadenocarcinoma(31;0.00153)|BRCA - Breast invasive adenocarcinoma(9;0.239)			TCAGGGAGCCGTTGGTCTTCT	0.527													G|||	3	0.000599042	0	0.0014	5008	,	,		19515	0		0.002	False		,,,				2504	0					ENST00000343164.4																			0				NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(1)	28						c.(505-507)aaC>aaT		solute carrier family 6 (neurotransmitter transporter), member 13		G	,	3,4403	6.2+/-15.9	0,3,2200	165	141	149		231,507	-1.5	1	12	dbSNP_134	149	12,8588	9.8+/-36.6	0,12,4288	no	coding-synonymous,coding-synonymous	SLC6A13	NM_001190997.2,NM_016615.4	,	0,15,6488	AA,AG,GG		0.1395,0.0681,0.1153	,	77/511,169/603	347148	15,12991	2203	4300	6503	SO:0001819	synonymous_variant	6540				neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity	g.chr12:347148G>A	U76343	CCDS8502.1, CCDS53729.1, CCDS58198.1	12p13.33	2013-07-19	2013-07-19		ENSG00000010379	ENSG00000010379		"Solute carriers"	11046	protein-coding gene	gene with protein product	"GABA transporter 2"	615097	"solute carrier family 6 (neurotransmitter transporter, GABA), member 13"				Standard	NM_001243392		Approved	GAT2	uc001qic.2	Q9NSD5	OTTHUMG00000168053	ENST00000343164.4:c.507C>T	12.37:g.347148G>A						SLC6A13_ENST00000445055.2_Silent_p.N77N	p.N169N	NM_016615.4	NP_057699.2	Q9NSD5	S6A13_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00153)|BRCA - Breast invasive adenocarcinoma(9;0.239)		5	559	-	all_cancers(10;0.0416)|all_epithelial(11;0.0537)|all_lung(10;0.0989)|Lung NSC(10;0.139)|Ovarian(42;0.142)		169					B4DJL1|Q8TCC2|Q8WW56	Silent	SNP	ENST00000343164.4	37	c.507C>T	CCDS8502.1																																																																																				0.527	SLC6A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397801.1	NM_016615		18	25	0	0	0	1	0	18	25					A	347148	G	A	347148	2	1	435	1	0	0	0	0	0	0	0	1	14676	1136	40	1		1	SLC6A13	12	347148	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	13489	347148	133504747	5508	26433											
KDM5A	5927	broad.mit.edu	37	chr12	404916	404916	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaggttccaaacttcggggCaccaaagggctcttccgagg	9	7	14	11	2	1	0	0	0	1	0	4	2	3	1	3	6	1	3	3	6	2	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:404916C>T	ENST00000399788.2	-	26	4640	c.4278G>A	c.(4276-4278)gtG>gtA	p.V1426V	KDM5A_ENST00000382815.4_Silent_p.V1426V|KDM5A_ENST00000540838.1_5'Flank	NM_001042603.1	NP_001036068.1	P29375	KDM5A_HUMAN	lysine (K)-specific demethylase 5A	1426					chromatin modification (GO:0016568)|circadian regulation of gene expression (GO:0032922)|multicellular organismal development (GO:0007275)|negative regulation of histone deacetylase activity (GO:1901726)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			NS(2)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(29)|ovary(1)|prostate(5)|skin(6)|stomach(1)|urinary_tract(2)	77						AACTTCGGGGCACCAAAGGGC	0.438			T	NUP98	AML																																	ENST00000399788.2				Dom	yes		12	12p11	5927	T	"lysine (K)-specific demethylase 5A, JARID1A"			L	NUP98		AML		0				NS(2)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(29)|ovary(1)|prostate(5)|skin(6)|stomach(1)|urinary_tract(2)	77						c.(4276-4278)gtG>gtA		lysine (K)-specific demethylase 5A							120	115	117					12																	404916		1840	4081	5921	SO:0001819	synonymous_variant	5927				chromatin modification|multicellular organismal development|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleolus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr12:404916C>T		CCDS41736.1	12p13.33	2013-01-28	2009-04-06	2009-04-06	ENSG00000073614	ENSG00000073614		"Chromatin-modifying enzymes / K-demethylases", "Zinc fingers, PHD-type"	9886	protein-coding gene	gene with protein product		180202	"retinoblastoma-binding protein 2", "Jumonji, AT rich interactive domain 1A (RBBP2-like)", "jumonji, AT rich interactive domain 1A"	RBBP2, JARID1A		1857421	Standard	NM_001042603		Approved		uc001qif.1	P29375	OTTHUMG00000168055	ENST00000399788.2:c.4278G>A	12.37:g.404916C>T						KDM5A_ENST00000382815.4_Silent_p.V1426V	p.V1426V	NM_001042603.1	NP_001036068.1	P29375	KDM5A_HUMAN			26	4640	-			1426					A8MV76|Q4LE72|Q86XZ1	Silent	SNP	ENST00000399788.2	37	c.4278G>A	CCDS41736.1																																																																																				0.438	KDM5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397812.1	NM_005056		45	60	0	0	0	1	0	45	60					T	404916	C	T	404916	2	4	435	1	0	0	0	0	0	0	0	1	8133	697	25	3		3	KDM5A	12	404916	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	57768	404916	133446979	5509	26434											
KDM5A	5927	broad.mit.edu	37	chr12	443455	443456	+	Frame_Shift_Ins	INS	-	-	A																															gtgatcctcaatgtgccagcINSaaaaagaagagaagcacatt																										TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:443455_443456insA	ENST00000399788.2	-	11	1803_1804	c.1441_1442insT	c.(1441-1443)tgcfs	p.C481fs	KDM5A_ENST00000382815.4_Frame_Shift_Ins_p.C481fs	NM_001042603.1	NP_001036068.1	P29375	KDM5A_HUMAN	lysine (K)-specific demethylase 5A	481	JmjC. {ECO:0000255|PROSITE- ProRule:PRU00538}.				chromatin modification (GO:0016568)|circadian regulation of gene expression (GO:0032922)|multicellular organismal development (GO:0007275)|negative regulation of histone deacetylase activity (GO:1901726)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			NS(2)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(29)|ovary(1)|prostate(5)|skin(6)|stomach(1)|urinary_tract(2)	77						AATGTGCCAGCAAAAAGAAGAG	0.431			T	NUP98	AML																																	ENST00000399788.2				Dom	yes		12	12p11	5927	T	"lysine (K)-specific demethylase 5A, JARID1A"			L	NUP98		AML		0				NS(2)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(29)|ovary(1)|prostate(5)|skin(6)|stomach(1)|urinary_tract(2)	77						c.(1441-1443)ctgfs		lysine (K)-specific demethylase 5A																																				SO:0001589	frameshift_variant	5927				chromatin modification|multicellular organismal development|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleolus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr12:443455_443456insA		CCDS41736.1	12p13.33	2013-01-28	2009-04-06	2009-04-06	ENSG00000073614	ENSG00000073614		"Chromatin-modifying enzymes / K-demethylases", "Zinc fingers, PHD-type"	9886	protein-coding gene	gene with protein product		180202	"retinoblastoma-binding protein 2", "Jumonji, AT rich interactive domain 1A (RBBP2-like)", "jumonji, AT rich interactive domain 1A"	RBBP2, JARID1A		1857421	Standard	NM_001042603		Approved		uc001qif.1	P29375	OTTHUMG00000168055	ENST00000399788.2:c.1442dupT	12.37:g.443460_443460dupA	ENSP00000382688:p.Cys481fs					KDM5A_ENST00000382815.4_Frame_Shift_Ins_p.L481fs	p.L481fs	NM_001042603.1	NP_001036068.1	P29375	KDM5A_HUMAN			11	1803_1804	-			481			JmjC.		A8MV76|Q4LE72|Q86XZ1	Frame_Shift_Ins	INS	ENST00000399788.2	37	c.1441_1442insT	CCDS41736.1																																																																																				0.431	KDM5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397812.1	NM_005056		49	81						49	81	---	---	---	---	A	443456	-	A	443455	7	5	435	1	0	1	1	0	0	0	0	0	8133	710	25	0	3702	0	KDM5A	12	443455	Frame_Shift_Ins	INS	-	TCGA-XK-AAIW-01A-11D-A41K-08	38539	443455	133408440	5510	26435											
KDM5A	5927	broad.mit.edu	37	chr12	464374	464374	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tctcatttgcatgttaaatgCgtctgacctgttggtaactt	8	17	8	8	1	2	1	1	1	2	0	3	1	2	1	1	1	3	4	1	1	3	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:464374C>T	ENST00000399788.2	-	7	1182	c.820G>A	c.(820-822)Gca>Aca	p.A274T	KDM5A_ENST00000382815.4_Missense_Mutation_p.A274T	NM_001042603.1	NP_001036068.1	P29375	KDM5A_HUMAN	lysine (K)-specific demethylase 5A	274					chromatin modification (GO:0016568)|circadian regulation of gene expression (GO:0032922)|multicellular organismal development (GO:0007275)|negative regulation of histone deacetylase activity (GO:1901726)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			NS(2)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(29)|ovary(1)|prostate(5)|skin(6)|stomach(1)|urinary_tract(2)	77						ATGTTAAATGCGTCTGACCTG	0.373			T	NUP98	AML																																	ENST00000399788.2				Dom	yes		12	12p11	5927	T	"lysine (K)-specific demethylase 5A, JARID1A"			L	NUP98		AML		0				NS(2)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(29)|ovary(1)|prostate(5)|skin(6)|stomach(1)|urinary_tract(2)	77						c.(820-822)Gca>Aca		lysine (K)-specific demethylase 5A							142	134	137					12																	464374		1868	4100	5968	SO:0001583	missense	5927				chromatin modification|multicellular organismal development|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleolus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr12:464374C>T		CCDS41736.1	12p13.33	2013-01-28	2009-04-06	2009-04-06	ENSG00000073614	ENSG00000073614		"Chromatin-modifying enzymes / K-demethylases", "Zinc fingers, PHD-type"	9886	protein-coding gene	gene with protein product		180202	"retinoblastoma-binding protein 2", "Jumonji, AT rich interactive domain 1A (RBBP2-like)", "jumonji, AT rich interactive domain 1A"	RBBP2, JARID1A		1857421	Standard	NM_001042603		Approved		uc001qif.1	P29375	OTTHUMG00000168055	ENST00000399788.2:c.820G>A	12.37:g.464374C>T	ENSP00000382688:p.Ala274Thr					KDM5A_ENST00000382815.4_Missense_Mutation_p.A274T	p.A274T	NM_001042603.1	NP_001036068.1	P29375	KDM5A_HUMAN			7	1182	-			274					A8MV76|Q4LE72|Q86XZ1	Missense_Mutation	SNP	ENST00000399788.2	37	c.820G>A	CCDS41736.1	.	.	.	.	.	.	.	.	.	.	C	16.12	3.033980	0.54896	.	.	ENSG00000073614	ENST00000399787;ENST00000399788;ENST00000382815	D;D	0.85411	-1.98;-1.79	5.49	4.6	0.57074	.	0.307134	0.34959	N	0.003557	D	0.86719	0.6000	L	0.42245	1.32	0.48975	D	0.999739	P;D;D	0.69078	0.544;0.989;0.997	B;P;P	0.61800	0.042;0.636;0.894	D	0.83361	0.0002	10	0.14656	T	0.56	-2.8505	14.6633	0.68888	0.0:0.9301:0.0:0.0699	.	274;274;274	F5H1F7;P29375;P29375-2	.;KDM5A_HUMAN;.	T	233;274;274	ENSP00000382688:A274T;ENSP00000372265:A274T	ENSP00000372265:A274T	A	-	1	0	KDM5A	334635	1.000000	0.71417	1.000000	0.80357	0.914000	0.54420	5.113000	0.64640	1.495000	0.48549	-0.244000	0.11960	GCA		0.373	KDM5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397812.1	NM_005056		25	46	0	0	0	1	0	25	46					T	464374	C	T	464374	3	4	435	1	0	0	0	0	1	0	0	0	8133	768	27	1	4340	1	KDM5A	12	464374	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	20919	464374	133387521	5511	26436											
CCDC77	84318	broad.mit.edu	37	chr12	539871	539871	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atccaggctgtaggtgaatgTgagcagagtgaatcttcagc	11	10	13	7	0	2	4	1	3	1	1	3	4	3	4	1	2	2	3	1	2	3	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:539871T>C	ENST00000239830.4	+	7	731	c.552T>C	c.(550-552)tgT>tgC	p.C184C	CCDC77_ENST00000540344.1_3'UTR|CCDC77_ENST00000412006.2_Silent_p.C152C|CCDC77_ENST00000422000.1_Silent_p.C152C|CCDC77_ENST00000540180.1_Silent_p.C152C	NM_032358.3	NP_115734.1	Q9BR77	CCD77_HUMAN	coiled-coil domain containing 77	184						centrosome (GO:0005813)|membrane (GO:0016020)				cervix(1)|endometrium(1)|large_intestine(5)|liver(2)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	19	all_cancers(10;0.0149)|all_epithelial(11;0.035)|all_lung(10;0.111)|Ovarian(42;0.142)|Lung NSC(10;0.156)		OV - Ovarian serous cystadenocarcinoma(31;0.00123)|BRCA - Breast invasive adenocarcinoma(9;0.033)			TAGGTGAATGTGAGCAGAGTG	0.388																																						ENST00000239830.4																			0				cervix(1)|endometrium(1)|large_intestine(5)|liver(2)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	19						c.(550-552)tgT>tgC		coiled-coil domain containing 77							139	133	135					12																	539871		2203	4300	6503	SO:0001819	synonymous_variant	84318					centrosome		g.chr12:539871T>C	AK027638	CCDS8503.1, CCDS44781.1	12p13.33	2006-02-16			ENSG00000120647	ENSG00000120647			28203	protein-coding gene	gene with protein product						12477932	Standard	NM_001130148		Approved	MGC13183	uc001qig.3	Q9BR77	OTTHUMG00000129214	ENST00000239830.4:c.552T>C	12.37:g.539871T>C						CCDC77_ENST00000540180.1_Silent_p.C152C|CCDC77_ENST00000422000.1_Silent_p.C152C|CCDC77_ENST00000540344.1_3'UTR|CCDC77_ENST00000412006.2_Silent_p.C152C	p.C184C	NM_032358.3	NP_115734.1	Q9BR77	CCD77_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00123)|BRCA - Breast invasive adenocarcinoma(9;0.033)		7	731	+	all_cancers(10;0.0149)|all_epithelial(11;0.035)|all_lung(10;0.111)|Ovarian(42;0.142)|Lung NSC(10;0.156)		184					B4DDE8	Silent	SNP	ENST00000239830.4	37	c.552T>C	CCDS8503.1																																																																																				0.388	CCDC77-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251296.1	NM_032358		14	75	0	0	0	1	0	14	75					C	539871	T	C	539871	2	2	435	1	0	0	0	0	0	0	0	1	2851	1702	59	4		4	CCDC77	12	539871	Silent	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	75497	539871	133312024	5512	26437											
B4GALNT3	283358	broad.mit.edu	37	chr12	662797	662797	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	accaggtggagtcgtacatcGcagagcagagacggggtgac	11	5	16	9	3	0	3	0	1	0	2	2	5	0	4	1	4	2	3	1	4	1	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:662797G>A	ENST00000266383.5	+	14	1721	c.1708G>A	c.(1708-1710)Gca>Aca	p.A570T		NM_173593.3	NP_775864.3	Q6L9W6	B4GN3_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 3	570					metabolic process (GO:0008152)	Golgi cisterna membrane (GO:0032580)|integral component of membrane (GO:0016021)	acetylgalactosaminyltransferase activity (GO:0008376)|N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity (GO:0033842)			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	all_cancers(10;0.0158)|all_epithelial(11;0.0274)|Ovarian(42;0.0512)|all_lung(10;0.154)|Lung NSC(10;0.215)		OV - Ovarian serous cystadenocarcinoma(31;0.00018)|BRCA - Breast invasive adenocarcinoma(9;0.0262)			GTCGTACATCGCAGAGCAGAG	0.662																																						ENST00000266383.5																			0				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						c.(1708-1710)Gca>Aca		beta-1,4-N-acetyl-galactosaminyl transferase 3							40	41	41					12																	662797		2203	4300	6503	SO:0001583	missense	283358					Golgi cisterna membrane|integral to membrane	N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity	g.chr12:662797G>A	AB089940	CCDS8504.1	12p13.33	2013-02-19			ENSG00000139044	ENSG00000139044	2.4.1.-	"Beta 4-glycosyltransferases"	24137	protein-coding gene	gene with protein product		612220				12966086	Standard	NM_173593		Approved	B4GalNac-T3, FLJ16224, FLJ40362	uc001qii.1	Q6L9W6	OTTHUMG00000129283	ENST00000266383.5:c.1708G>A	12.37:g.662797G>A	ENSP00000266383:p.Ala570Thr						p.A570T	NM_173593.3	NP_775864.3	Q6L9W6	B4GN3_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00018)|BRCA - Breast invasive adenocarcinoma(9;0.0262)		14	1721	+	all_cancers(10;0.0158)|all_epithelial(11;0.0274)|Ovarian(42;0.0512)|all_lung(10;0.154)|Lung NSC(10;0.215)		570					Q6ZNC1|Q8N7T6	Missense_Mutation	SNP	ENST00000266383.5	37	c.1708G>A	CCDS8504.1	.	.	.	.	.	.	.	.	.	.	G	14.28	2.487960	0.44249	.	.	ENSG00000139044	ENST00000266383;ENST00000322843	T;T	0.30981	3.54;1.51	5.63	5.63	0.86233	.	0.518196	0.22131	N	0.064191	T	0.34861	0.0912	L	0.56769	1.78	0.09310	N	1	D;P	0.56521	0.976;0.923	P;B	0.46275	0.51;0.122	T	0.31586	-0.9938	10	0.27785	T	0.31	-15.805	13.3305	0.60483	0.0:0.0:0.8424:0.1576	.	473;570	E9PHD9;Q6L9W6	.;B4GN3_HUMAN	T	570;473	ENSP00000266383:A570T;ENSP00000322953:A473T	ENSP00000266383:A570T	A	+	1	0	B4GALNT3	533058	0.400000	0.25295	0.111000	0.21465	0.523000	0.34469	1.893000	0.39758	2.659000	0.90383	0.561000	0.74099	GCA		0.662	B4GALNT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251406.2	NM_173593		22	25	0	0	0	1	0	22	25					A	662797	G	A	662797	3	1	435	1	0	0	0	0	1	0	0	0	1268	1087	38	1	1762	1	B4GALNT3	12	662797	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	122926	662797	133189098	5513	26438											
B4GALNT3	283358	broad.mit.edu	37	chr12	662809	662809	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtacatcgcagagcagagaCggggtgacaggatgcggcct	10	5	16	10	4	0	3	0	1	0	2	1	5	0	4	1	4	3	3	1	4	1	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:662809C>T	ENST00000266383.5	+	14	1733	c.1720C>T	c.(1720-1722)Cgg>Tgg	p.R574W		NM_173593.3	NP_775864.3	Q6L9W6	B4GN3_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 3	574					metabolic process (GO:0008152)	Golgi cisterna membrane (GO:0032580)|integral component of membrane (GO:0016021)	acetylgalactosaminyltransferase activity (GO:0008376)|N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity (GO:0033842)			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	all_cancers(10;0.0158)|all_epithelial(11;0.0274)|Ovarian(42;0.0512)|all_lung(10;0.154)|Lung NSC(10;0.215)		OV - Ovarian serous cystadenocarcinoma(31;0.00018)|BRCA - Breast invasive adenocarcinoma(9;0.0262)			AGAGCAGAGACGGGGTGACAG	0.672																																						ENST00000266383.5																			0				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						c.(1720-1722)Cgg>Tgg		beta-1,4-N-acetyl-galactosaminyl transferase 3							40	41	41					12																	662809		2203	4300	6503	SO:0001583	missense	283358					Golgi cisterna membrane|integral to membrane	N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity	g.chr12:662809C>T	AB089940	CCDS8504.1	12p13.33	2013-02-19			ENSG00000139044	ENSG00000139044	2.4.1.-	"Beta 4-glycosyltransferases"	24137	protein-coding gene	gene with protein product		612220				12966086	Standard	NM_173593		Approved	B4GalNac-T3, FLJ16224, FLJ40362	uc001qii.1	Q6L9W6	OTTHUMG00000129283	ENST00000266383.5:c.1720C>T	12.37:g.662809C>T	ENSP00000266383:p.Arg574Trp						p.R574W	NM_173593.3	NP_775864.3	Q6L9W6	B4GN3_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00018)|BRCA - Breast invasive adenocarcinoma(9;0.0262)		14	1733	+	all_cancers(10;0.0158)|all_epithelial(11;0.0274)|Ovarian(42;0.0512)|all_lung(10;0.154)|Lung NSC(10;0.215)		574					Q6ZNC1|Q8N7T6	Missense_Mutation	SNP	ENST00000266383.5	37	c.1720C>T	CCDS8504.1	.	.	.	.	.	.	.	.	.	.	C	8.238	0.806156	0.16467	.	.	ENSG00000139044	ENST00000266383;ENST00000322843	T;T	0.33865	3.42;1.39	5.63	-1.79	0.07932	.	0.522548	0.23435	N	0.048204	T	0.17789	0.0427	L	0.27053	0.805	0.09310	N	1	B;B	0.17465	0.022;0.009	B;B	0.12156	0.007;0.003	T	0.07290	-1.0780	10	0.44086	T	0.13	-20.2686	1.9724	0.03409	0.2927:0.372:0.0894:0.2459	.	477;574	E9PHD9;Q6L9W6	.;B4GN3_HUMAN	W	574;477	ENSP00000266383:R574W;ENSP00000322953:R477W	ENSP00000266383:R574W	R	+	1	2	B4GALNT3	533070	0.809000	0.29036	0.051000	0.19133	0.349000	0.29174	0.263000	0.18478	-0.529000	0.06358	-1.550000	0.00899	CGG		0.672	B4GALNT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251406.2	NM_173593		18	34	0	0	0	1	0	18	34					T	662809	C	T	662809	3	4	435	1	0	0	0	0	1	0	0	0	1268	527	19	1	1774	1	B4GALNT3	12	662809	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	12	662809	133189086	5514	26439											
WNK1	65125	broad.mit.edu	37	chr12	939316	939316	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctgcacagatctaccgtcGcgtgaccagtgtaagtcttc	8	11	10	12	3	2	2	0	1	2	1	4	2	2	2	2	0	3	3	2	0	2	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:939316G>A	ENST00000315939.6	+	4	1944	c.1301G>A	c.(1300-1302)cGc>cAc	p.R434H	WNK1_ENST00000530271.2_Missense_Mutation_p.R434H|WNK1_ENST00000537687.1_Missense_Mutation_p.R434H|WNK1_ENST00000535572.1_Missense_Mutation_p.R434H|WNK1_ENST00000540360.1_3'UTR	NM_018979.3	NP_061852.3	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1	434	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				intracellular signal transduction (GO:0035556)|ion transport (GO:0006811)|negative regulation of pancreatic juice secretion (GO:0090188)|negative regulation of phosphatase activity (GO:0010923)|neuron development (GO:0048666)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of systemic arterial blood pressure (GO:0003084)|protein phosphorylation (GO:0006468)|regulation of cellular process (GO:0050794)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|chloride channel inhibitor activity (GO:0019869)|phosphatase binding (GO:0019902)|protein kinase inhibitor activity (GO:0004860)|protein serine/threonine kinase activity (GO:0004674)			breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			ATCTACCGTCGCGTGACCAGT	0.448																																					Colon(19;451 567 6672 12618 28860)	ENST00000537687.1																			0				breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104						c.(1300-1302)cGc>cAc		WNK lysine deficient protein kinase 1							153	123	133					12																	939316		2203	4300	6503	SO:0001583	missense	65125				intracellular protein kinase cascade|ion transport|neuron development	cytoplasm	ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity	g.chr12:939316G>A	AJ296290	CCDS8506.1, CCDS53731.1, CCDS73419.1	12p13.3	2014-09-17	2005-01-19	2005-01-21	ENSG00000060237	ENSG00000060237			14540	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 167"	605232	"protein kinase, lysine deficient 1", "hereditary sensory neuropathy, type II"	PRKWNK1, HSN2			Standard	NM_001184985		Approved	HSAN2, PPP1R167	uc031qfk.1	Q9H4A3	OTTHUMG00000090321	ENST00000315939.6:c.1301G>A	12.37:g.939316G>A	ENSP00000313059:p.Arg434His					WNK1_ENST00000530271.2_Missense_Mutation_p.R434H|WNK1_ENST00000535572.1_Missense_Mutation_p.R434H|WNK1_ENST00000315939.6_Missense_Mutation_p.R434H|WNK1_ENST00000540360.1_3'UTR	p.R434H	NM_001184985.1|NM_213655.4	NP_001171914.1|NP_998820.3	Q9H4A3	WNK1_HUMAN	Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)		4	1944	+	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		434			Protein kinase.		A1L4B0|C5HTZ5|C5HTZ6|C5HTZ7|H6WZW3|O15052|P54963|Q4VBX9|Q6IFS5|Q86WL5|Q8N673|Q96CZ6|Q9P1S9	Missense_Mutation	SNP	ENST00000315939.6	37	c.1301G>A	CCDS8506.1	.	.	.	.	.	.	.	.	.	.	G	27.7	4.853216	0.91355	.	.	ENSG00000060237	ENST00000535572;ENST00000315939;ENST00000537687;ENST00000530271	T;T;T;T	0.23950	1.88;1.88;1.88;1.88	5.49	5.49	0.81192	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.52532	D	0.000066	T	0.38957	0.1060	N	0.20574	0.59	0.80722	D	1	D;D	0.76494	0.998;0.999	D;D	0.74023	0.969;0.982	T	0.37150	-0.9718	10	0.87932	D	0	-10.4471	19.3708	0.94484	0.0:0.0:1.0:0.0	.	434;434	F5GWT4;Q9H4A3	.;WNK1_HUMAN	H	434	ENSP00000441972:R434H;ENSP00000313059:R434H;ENSP00000444465:R434H;ENSP00000433548:R434H	ENSP00000313059:R434H	R	+	2	0	WNK1	809577	1.000000	0.71417	0.998000	0.56505	0.976000	0.68499	6.836000	0.75349	2.571000	0.86741	0.467000	0.42956	CGC		0.448	WNK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206683.1	NM_018979		6	26	0	0	0	1	0	6	26					A	939316	G	A	939316	3	1	435	1	0	0	0	0	1	0	0	0	17374	1087	38	1	1315	1	WNK1	12	939316	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	276507	939316	132912579	5515	26440											
WNT5B	81029	broad.mit.edu	37	chr12	1755276	1755276	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gacctcggagggcatggatgGctgtgagctcatgtgctgcg	6	9	17	9	2	1	1	1	1	0	0	2	4	1	3	1	4	3	4	1	4	0	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:1755276G>A	ENST00000397196.2	+	5	1170	c.938G>A	c.(937-939)gGc>gAc	p.G313D	WNT5B_ENST00000537031.1_Missense_Mutation_p.G313D|WNT5B_ENST00000310594.3_Missense_Mutation_p.G313D|WNT5B_ENST00000545747.1_3'UTR	NM_032642.2	NP_116031.1	Q9H1J7	WNT5B_HUMAN	wingless-type MMTV integration site family, member 5B	313					cell fate commitment (GO:0045165)|cellular response to retinoic acid (GO:0071300)|chondrocyte differentiation (GO:0002062)|fat cell differentiation (GO:0045444)|lens fiber cell development (GO:0070307)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|neuron differentiation (GO:0030182)|positive regulation of cell migration (GO:0030335)|positive regulation of fat cell differentiation (GO:0045600)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cell surface (GO:0009986)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)|receptor binding (GO:0005102)			skin(1)	1	Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.00109)			GGCATGGATGGCTGTGAGCTC	0.637																																						ENST00000397196.2																			0				skin(1)	1						c.(937-939)gGc>gAc		wingless-type MMTV integration site family, member 5B							58	63	61					12																	1755276		2203	4300	6503	SO:0001583	missense	81029				angiogenesis|anterior/posterior pattern formation|cell migration involved in gastrulation|cellular response to retinoic acid|chondrocyte differentiation|convergent extension involved in axis elongation|convergent extension involved in gastrulation|dorsal/ventral axis specification|endocrine pancreas development|fat cell differentiation|lens fiber cell development|negative regulation of canonical Wnt receptor signaling pathway|neuron differentiation|positive regulation of cell migration|positive regulation of fat cell differentiation|respiratory system development|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	frizzled-2 binding	g.chr12:1755276G>A	AB060966	CCDS8510.1	12p13.3	2008-07-07			ENSG00000111186	ENSG00000111186		"Wingless-type MMTV integration sites"	16265	protein-coding gene	gene with protein product		606361				11445850	Standard	NM_030775		Approved		uc001qjk.3	Q9H1J7	OTTHUMG00000090375	ENST00000397196.2:c.938G>A	12.37:g.1755276G>A	ENSP00000380379:p.Gly313Asp					WNT5B_ENST00000537031.1_Missense_Mutation_p.G313D|WNT5B_ENST00000310594.3_Missense_Mutation_p.G313D|WNT5B_ENST00000545747.1_3'UTR	p.G313D	NM_032642.2	NP_116031.1	Q9H1J7	WNT5B_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00109)		5	1170	+	Ovarian(42;0.107)		313					A8K315|D3DUP9|Q96S49|Q9BV04	Missense_Mutation	SNP	ENST00000397196.2	37	c.938G>A	CCDS8510.1	.	.	.	.	.	.	.	.	.	.	G	29.2	4.987968	0.93106	.	.	ENSG00000111186	ENST00000537031;ENST00000310594;ENST00000397196	T;T;T	0.76968	-1.06;-1.06;-1.06	5.15	5.15	0.70609	.	0.000000	0.85682	D	0.000000	D	0.90539	0.7035	M	0.89534	3.04	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.92179	0.5750	10	0.87932	D	0	.	18.8196	0.92090	0.0:0.0:1.0:0.0	.	313	Q9H1J7	WNT5B_HUMAN	D	313	ENSP00000439312:G313D;ENSP00000308887:G313D;ENSP00000380379:G313D	ENSP00000308887:G313D	G	+	2	0	WNT5B	1625537	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.648000	0.98483	2.673000	0.90976	0.655000	0.94253	GGC		0.637	WNT5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206747.2			25	29	0	0	0	1	0	25	29					A	1755276	G	A	1755276	3	1	435	1	0	0	0	0	1	0	0	0	17389	1203	42	3	952	3	WNT5B	12	1755276	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	815960	1755276	132096619	5516	26441											
CACNA2D4	93589	broad.mit.edu	37	chr12	1993988	1993988	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctcgtagtcctccacggcGccgtcgctgatgagcatgat	6	9	13	13	5	0	3	0	3	0	0	4	3	2	3	3	2	1	4	3	2	1	1	rs200027649	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:1993988G>A	ENST00000382722.5	-	11	1580	c.1218C>T	c.(1216-1218)ggC>ggT	p.G406G	CACNA2D4_ENST00000587995.1_Silent_p.G406G|CACNA2D4_ENST00000585732.1_Silent_p.G322G|CACNA2D4_ENST00000585708.1_Silent_p.G342G|CACNA2D4_ENST00000588077.1_Silent_p.G342G|CACNA2D4_ENST00000586184.1_Silent_p.G406G	NM_172364.4	NP_758952.4	Q7Z3S7	CA2D4_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 4	406	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				calcium ion transmembrane transport (GO:0070588)|detection of light stimulus involved in visual perception (GO:0050908)	voltage-gated calcium channel complex (GO:0005891)	metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			endometrium(3)|kidney(2)|large_intestine(1)|liver(1)|lung(27)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	39	Ovarian(42;0.107)	Myeloproliferative disorder(1001;0.206)	OV - Ovarian serous cystadenocarcinoma(31;0.00113)	Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451)		CCTCCACGGCGCCGTCGCTGA	0.577													G|||	2	0.000399361	0.0015	0	5008	,	,		16447	0		0	False		,,,				2504	0				Colon(2;101 179 21030 23310 28141)	ENST00000382722.5																			0				endometrium(3)|kidney(2)|large_intestine(1)|liver(1)|lung(27)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	39						c.(1216-1218)ggC>ggT		calcium channel, voltage-dependent, alpha 2/delta subunit 4		G		4,4108		0,4,2052	48	55	53		1218	-2.8	0.3	12		53	4,8372		0,4,4184	no	coding-synonymous	CACNA2D4	NM_172364.4		0,8,6236	AA,AG,GG		0.0478,0.0973,0.0641		406/1138	1993988	8,12480	2056	4188	6244	SO:0001819	synonymous_variant	93589					integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity	g.chr12:1993988G>A	AF516695	CCDS44785.1	12p13.33	2003-03-05			ENSG00000151062	ENSG00000151062		"Calcium channel subunits"	20202	protein-coding gene	gene with protein product		608171				12181424	Standard	NM_172364		Approved		uc021qsx.1	Q7Z3S7	OTTHUMG00000168111	ENST00000382722.5:c.1218C>T	12.37:g.1993988G>A						CACNA2D4_ENST00000585732.1_Silent_p.G322G|CACNA2D4_ENST00000587995.1_Silent_p.G406G|CACNA2D4_ENST00000588077.1_Silent_p.G342G|CACNA2D4_ENST00000585708.1_Silent_p.G342G|CACNA2D4_ENST00000586184.1_Silent_p.G406G	p.G406G	NM_172364.4	NP_758952.4	Q7Z3S7	CA2D4_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00113)	Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451)	11	1580	-	Ovarian(42;0.107)	Myeloproliferative disorder(1001;0.206)	406			VWFA.		Q7Z3S8|Q86XZ5|Q8IZS9	Silent	SNP	ENST00000382722.5	37	c.1218C>T	CCDS44785.1																																																																																				0.577	CACNA2D4-001	KNOWN	non_canonical_U12|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000398230.2			11	14	0	0	0	1	0	11	14					A	1993988	G	A	1993988	2	1	435	1	0	0	0	0	0	0	0	1	2551	1074	38	1		1	CACNA2D4	12	1993988	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	238712	1993988	131857907	5517	26442											
CACNA2D4	93589	broad.mit.edu	37	chr12	1995182	1995182	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atccctttaaaacaaggctcGatgtaatggacgtagtcatt	13	12	8	8	2	1	0	1	0	0	0	3	2	2	1	1	2	1	3	1	2	5	5	rs182502291		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:1995182G>A	ENST00000382722.5	-	9	1379	c.1017C>T	c.(1015-1017)atC>atT	p.I339I	CACNA2D4_ENST00000587995.1_Silent_p.I339I|CACNA2D4_ENST00000585732.1_Intron|CACNA2D4_ENST00000585708.1_Silent_p.I275I|CACNA2D4_ENST00000588077.1_Silent_p.I275I|CACNA2D4_ENST00000586184.1_Silent_p.I339I	NM_172364.4	NP_758952.4	Q7Z3S7	CA2D4_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 4	339	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				calcium ion transmembrane transport (GO:0070588)|detection of light stimulus involved in visual perception (GO:0050908)	voltage-gated calcium channel complex (GO:0005891)	metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			endometrium(3)|kidney(2)|large_intestine(1)|liver(1)|lung(27)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	39	Ovarian(42;0.107)	Myeloproliferative disorder(1001;0.206)	OV - Ovarian serous cystadenocarcinoma(31;0.00113)	Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451)		AACAAGGCTCGATGTAATGGA	0.542													G|||	1	0.000199681	0	0	5008	,	,		20860	0.001		0	False		,,,				2504	0				Colon(2;101 179 21030 23310 28141)	ENST00000382722.5																			0				endometrium(3)|kidney(2)|large_intestine(1)|liver(1)|lung(27)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	39						c.(1015-1017)atC>atT		calcium channel, voltage-dependent, alpha 2/delta subunit 4							62	65	64					12																	1995182		2053	4187	6240	SO:0001819	synonymous_variant	93589					integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity	g.chr12:1995182G>A	AF516695	CCDS44785.1	12p13.33	2003-03-05			ENSG00000151062	ENSG00000151062		"Calcium channel subunits"	20202	protein-coding gene	gene with protein product		608171				12181424	Standard	NM_172364		Approved		uc021qsx.1	Q7Z3S7	OTTHUMG00000168111	ENST00000382722.5:c.1017C>T	12.37:g.1995182G>A						CACNA2D4_ENST00000585732.1_Intron|CACNA2D4_ENST00000587995.1_Silent_p.I339I|CACNA2D4_ENST00000588077.1_Silent_p.I275I|CACNA2D4_ENST00000585708.1_Silent_p.I275I|CACNA2D4_ENST00000586184.1_Silent_p.I339I	p.I339I	NM_172364.4	NP_758952.4	Q7Z3S7	CA2D4_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00113)	Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451)	9	1379	-	Ovarian(42;0.107)	Myeloproliferative disorder(1001;0.206)	339			VWFA.		Q7Z3S8|Q86XZ5|Q8IZS9	Silent	SNP	ENST00000382722.5	37	c.1017C>T	CCDS44785.1																																																																																				0.542	CACNA2D4-001	KNOWN	non_canonical_U12|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000398230.2			7	15	0	0	0	1	0	7	15					A	1995182	G	A	1995182	2	1	435	1	0	0	0	0	0	0	0	1	2551	1048	37	2		2	CACNA2D4	12	1995182	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	1194	1995182	131856713	5518	26443											
CACNA1C	775	broad.mit.edu	37	chr12	2659184	2659184	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgacatcgagggagaaaactGcggggccaggctggcgtgag	10	5	18	8	3	0	3	0	2	0	1	1	5	0	3	1	5	2	1	1	5	2	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:2659184G>A	ENST00000347598.4	+	10	1466	c.1466G>A	c.(1465-1467)tGc>tAc	p.C489Y	CACNA1C_ENST00000399601.1_Missense_Mutation_p.C489Y|CACNA1C_ENST00000399606.1_Missense_Mutation_p.C489Y|CACNA1C_ENST00000402845.3_Missense_Mutation_p.C489Y|CACNA1C_ENST00000344100.3_Missense_Mutation_p.C489Y|CACNA1C_ENST00000327702.7_Missense_Mutation_p.C489Y|CACNA1C_ENST00000406454.3_Missense_Mutation_p.C489Y|CACNA1C_ENST00000399638.1_Missense_Mutation_p.C489Y|CACNA1C_ENST00000399603.1_Missense_Mutation_p.C489Y|CACNA1C_ENST00000335762.5_Missense_Mutation_p.C514Y|CACNA1C_ENST00000480911.1_Missense_Mutation_p.C489Y|CACNA1C_ENST00000399629.1_Missense_Mutation_p.C489Y|CACNA1C_ENST00000491104.1_3'UTR|CACNA1C_ENST00000399634.1_Missense_Mutation_p.C489Y|CACNA1C_ENST00000399621.1_Missense_Mutation_p.C489Y|CACNA1C_ENST00000399597.1_Missense_Mutation_p.C489Y|CACNA1C_ENST00000399617.1_Missense_Mutation_p.C489Y|CACNA1C_ENST00000399637.1_Missense_Mutation_p.C489Y|CACNA1C_ENST00000399595.1_Missense_Mutation_p.C489Y|CACNA1C_ENST00000399644.1_Missense_Mutation_p.C489Y|CACNA1C_ENST00000399641.1_Missense_Mutation_p.C489Y|CACNA1C_ENST00000399649.1_Missense_Mutation_p.C489Y|CACNA1C_ENST00000399591.1_Missense_Mutation_p.C489Y|CACNA1C_ENST00000399655.1_Missense_Mutation_p.C489Y	NM_001129827.1|NM_199460.2	NP_001123299.1|NP_955630.2	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	489					adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport into cytosol (GO:0060402)|calcium ion-dependent exocytosis (GO:0017156)|calcium-mediated signaling using extracellular calcium source (GO:0035585)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|energy reserve metabolic process (GO:0006112)|glucose homeostasis (GO:0042593)|growth hormone secretion (GO:0030252)|insulin secretion (GO:0030073)|membrane depolarization during action potential (GO:0086010)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of insulin secretion (GO:0050796)|regulation of organ growth (GO:0046620)|regulation of vasoconstriction (GO:0019229)|small molecule metabolic process (GO:0044281)|smooth muscle contraction involved in micturition (GO:0060083)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	caveolar macromolecular signaling complex (GO:0002095)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|calmodulin binding (GO:0005516)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Drotaverine(DB06751)|Felodipine(DB01023)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	GGAGAAAACTGCGGGGCCAGG	0.597																																						ENST00000399655.1																			0				NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132						c.(1465-1467)tGc>tAc		calcium channel, voltage-dependent, L type, alpha 1C subunit	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)						42	46	45					12																	2659184		2014	4176	6190	SO:0001583	missense	775				axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity	g.chr12:2659184G>A	AF070589	CCDS44787.1, CCDS44788.1, CCDS44789.1, CCDS44790.1, CCDS44791.1, CCDS44792.1, CCDS44793.1, CCDS44794.1, CCDS44795.1, CCDS44796.1, CCDS44797.1, CCDS44798.1, CCDS44799.1, CCDS44800.1, CCDS44801.1, CCDS53733.1, CCDS53734.1, CCDS53735.1, CCDS53736.1	12p13.3	2014-09-17			ENSG00000151067	ENSG00000151067		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1390	protein-coding gene	gene with protein product		114205		CCHL1A1, CACNL1A1		1650913, 16382099	Standard	NM_001129832		Approved	Cav1.2, CACH2, CACN2, TS, LQT8	uc001qjy.3	Q13936	OTTHUMG00000150243	ENST00000347598.4:c.1466G>A	12.37:g.2659184G>A	ENSP00000266376:p.Cys489Tyr					CACNA1C_ENST00000491104.1_3'UTR|CACNA1C_ENST00000327702.7_Missense_Mutation_p.C489Y|CACNA1C_ENST00000399601.1_Missense_Mutation_p.C489Y|CACNA1C_ENST00000399638.1_Missense_Mutation_p.C489Y|CACNA1C_ENST00000335762.5_Missense_Mutation_p.C514Y|CACNA1C_ENST00000406454.3_Missense_Mutation_p.C489Y|CACNA1C_ENST00000399644.1_Missense_Mutation_p.C489Y|CACNA1C_ENST00000399591.1_Missense_Mutation_p.C489Y|CACNA1C_ENST00000399595.1_Missense_Mutation_p.C489Y|CACNA1C_ENST00000399606.1_Missense_Mutation_p.C489Y|CACNA1C_ENST00000399597.1_Missense_Mutation_p.C489Y|CACNA1C_ENST00000402845.3_Missense_Mutation_p.C489Y|CACNA1C_ENST00000399617.1_Missense_Mutation_p.C489Y|CACNA1C_ENST00000399634.1_Missense_Mutation_p.C489Y|CACNA1C_ENST00000399603.1_Missense_Mutation_p.C489Y|CACNA1C_ENST00000480911.1_Missense_Mutation_p.C489Y|CACNA1C_ENST00000399637.1_Missense_Mutation_p.C489Y|CACNA1C_ENST00000399621.1_Missense_Mutation_p.C489Y|CACNA1C_ENST00000347598.4_Missense_Mutation_p.C489Y|CACNA1C_ENST00000399649.1_Missense_Mutation_p.C489Y|CACNA1C_ENST00000399629.1_Missense_Mutation_p.C489Y|CACNA1C_ENST00000399641.1_Missense_Mutation_p.C489Y|CACNA1C_ENST00000344100.3_Missense_Mutation_p.C489Y	p.C489Y	NM_000719.6|NM_001129829.1|NM_001129834.1	NP_000710.5|NP_001123301.1|NP_001123306.1	Q13936	CAC1C_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	10	1731	+			489					B2RUT3|E9PDJ0|Q13917|Q13918|Q13919|Q13920|Q13921|Q13922|Q13923|Q13924|Q13925|Q13926|Q13927|Q13928|Q13929|Q13930|Q13932|Q13933|Q14743|Q14744|Q15877|Q4VMI7|Q4VMI8|Q4VMI9|Q6PKM7|Q8N6C0|Q99025|Q99241|Q99875	Missense_Mutation	SNP	ENST00000347598.4	37	c.1466G>A	CCDS44788.1	.	.	.	.	.	.	.	.	.	.	G	19.57	3.851644	0.71719	.	.	ENSG00000151067	ENST00000335762;ENST00000399655;ENST00000480911;ENST00000399644;ENST00000399638;ENST00000399597;ENST00000399621;ENST00000399637;ENST00000399591;ENST00000399641;ENST00000347598;ENST00000399606;ENST00000399601;ENST00000344100;ENST00000399629;ENST00000327702;ENST00000399649;ENST00000402845;ENST00000399603;ENST00000399634;ENST00000399617;ENST00000406454;ENST00000399595;ENST00000322367	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.93811	-3.29;-3.29;-3.29;-3.29;-3.29;-3.29;-3.29;-3.29;-3.29;-3.29;-3.29;-3.29;-3.29;-3.29;-3.29;-3.29;-3.29;-3.29;-3.29;-3.29;-3.29;-3.29;-3.29	5.25	5.25	0.73442	.	0.565710	0.20526	N	0.090603	D	0.97188	0.9081	M	0.87758	2.905	0.80722	D	1	B;D;D;P;D;D;D;D;P;P;D;D;P;D;P;D;D;P;P;B;D;D;P;D;P;D	0.69078	0.334;0.995;0.986;0.932;0.997;0.991;0.986;0.991;0.812;0.889;0.991;0.986;0.917;0.984;0.947;0.984;0.962;0.917;0.82;0.402;0.986;0.98;0.82;0.986;0.589;0.986	B;P;P;P;D;D;P;D;P;P;D;P;P;D;B;P;B;P;P;B;P;P;P;P;B;P	0.83275	0.26;0.861;0.858;0.507;0.996;0.929;0.858;0.929;0.673;0.476;0.929;0.742;0.562;0.929;0.355;0.851;0.321;0.491;0.527;0.196;0.742;0.861;0.527;0.742;0.076;0.742	D	0.96966	0.9705	10	0.48119	T	0.1	.	19.2222	0.93801	0.0:0.0:1.0:0.0	.	118;489;486;489;489;489;489;489;489;489;489;489;460;489;489;489;489;489;489;489;489;489;489;489;489;489	Q5V9X8;Q13936-14;Q13936-35;Q13936;Q13936-33;Q13936-13;Q13936-22;Q13936-32;Q13936-31;Q13936-21;Q13936-30;Q13936-23;Q13936-28;Q13936-11;E9PDJ1;E9PDJ0;F5GY28;Q13936-25;Q13936-15;Q13936-29;Q13936-19;Q13936-24;Q13936-27;Q13936-20;F5H638;Q13936-12	.;.;.;CAC1C_HUMAN;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	Y	514;489;489;489;489;489;489;489;489;489;489;489;489;489;489;489;489;489;489;489;489;489;489;330	ENSP00000336982:C514Y;ENSP00000382563:C489Y;ENSP00000437936:C489Y;ENSP00000382552:C489Y;ENSP00000382547:C489Y;ENSP00000382506:C489Y;ENSP00000382530:C489Y;ENSP00000382546:C489Y;ENSP00000382500:C489Y;ENSP00000382549:C489Y;ENSP00000266376:C489Y;ENSP00000382515:C489Y;ENSP00000382510:C489Y;ENSP00000341092:C489Y;ENSP00000382537:C489Y;ENSP00000329877:C489Y;ENSP00000382557:C489Y;ENSP00000385724:C489Y;ENSP00000382512:C489Y;ENSP00000382542:C489Y;ENSP00000382526:C489Y;ENSP00000385896:C489Y;ENSP00000382504:C489Y	ENSP00000323129:C330Y	C	+	2	0	CACNA1C	2529445	1.000000	0.71417	0.999000	0.59377	0.988000	0.76386	9.289000	0.96061	2.596000	0.87737	0.655000	0.94253	TGC		0.597	CACNA1C-017	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317035.1	NM_000719		4	4	0	0	0	1	0	4	4					A	2659184	G	A	2659184	3	1	435	1	0	0	0	0	1	0	0	0	2540	1319	46	3	1612	3	CACNA1C	12	2659184	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	664002	2659184	131192711	5519	26444											
CACNA1C	775	broad.mit.edu	37	chr12	2675634	2675634	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgcagaaggaagtgccgcGccgcagtcaagtctaatgtc	10	8	12	11	3	3	1	1	0	2	1	4	2	3	2	2	1	2	2	2	1	4	1	rs371702432		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:2675634G>A	ENST00000347598.4	+	12	1555	c.1555G>A	c.(1555-1557)Gcc>Acc	p.A519T	CACNA1C_ENST00000399601.1_Missense_Mutation_p.A519T|CACNA1C_ENST00000399606.1_Missense_Mutation_p.A519T|CACNA1C_ENST00000402845.3_Missense_Mutation_p.A519T|CACNA1C_ENST00000344100.3_Missense_Mutation_p.A519T|CACNA1C_ENST00000327702.7_Missense_Mutation_p.A519T|CACNA1C_ENST00000406454.3_Missense_Mutation_p.A519T|CACNA1C_ENST00000399638.1_Missense_Mutation_p.A519T|CACNA1C_ENST00000399603.1_Missense_Mutation_p.A519T|CACNA1C_ENST00000335762.5_Missense_Mutation_p.A544T|CACNA1C_ENST00000480911.1_Missense_Mutation_p.A519T|CACNA1C_ENST00000399629.1_Missense_Mutation_p.A519T|CACNA1C_ENST00000491104.1_3'UTR|CACNA1C_ENST00000399634.1_Missense_Mutation_p.A519T|CACNA1C_ENST00000399621.1_Missense_Mutation_p.A519T|CACNA1C_ENST00000399597.1_Missense_Mutation_p.A519T|CACNA1C_ENST00000399617.1_Missense_Mutation_p.A519T|CACNA1C_ENST00000399637.1_Missense_Mutation_p.A519T|CACNA1C_ENST00000399595.1_Missense_Mutation_p.A519T|CACNA1C_ENST00000399644.1_Missense_Mutation_p.A519T|CACNA1C_ENST00000399641.1_Missense_Mutation_p.A519T|CACNA1C_ENST00000399649.1_Missense_Mutation_p.A519T|CACNA1C_ENST00000399591.1_Missense_Mutation_p.A519T|CACNA1C_ENST00000399655.1_Missense_Mutation_p.A519T	NM_001129827.1|NM_199460.2	NP_001123299.1|NP_955630.2	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	519					adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport into cytosol (GO:0060402)|calcium ion-dependent exocytosis (GO:0017156)|calcium-mediated signaling using extracellular calcium source (GO:0035585)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|energy reserve metabolic process (GO:0006112)|glucose homeostasis (GO:0042593)|growth hormone secretion (GO:0030252)|insulin secretion (GO:0030073)|membrane depolarization during action potential (GO:0086010)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of insulin secretion (GO:0050796)|regulation of organ growth (GO:0046620)|regulation of vasoconstriction (GO:0019229)|small molecule metabolic process (GO:0044281)|smooth muscle contraction involved in micturition (GO:0060083)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	caveolar macromolecular signaling complex (GO:0002095)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|calmodulin binding (GO:0005516)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Drotaverine(DB06751)|Felodipine(DB01023)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	GAAGTGCCGCGCCGCAGTCAA	0.562																																						ENST00000399655.1																			0				NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132						c.(1555-1557)Gcc>Acc		calcium channel, voltage-dependent, L type, alpha 1C subunit	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	G	THR/ALA,THR/ALA,THR/ALA,THR/ALA,THR/ALA,THR/ALA,THR/ALA,THR/ALA,THR/ALA,THR/ALA,THR/ALA,THR/ALA,THR/ALA,THR/ALA,THR/ALA,THR/ALA,THR/ALA,THR/ALA,THR/ALA,THR/ALA,THR/ALA,THR/ALA,THR/ALA	0,3982		0,0,1991	48	54	52		1555,1555,1555,1555,1555,1555,1555,1555,1555,1555,1555,1555,1555,1555,1555,1555,1555,1546,1555,1555,1555,1555,1555	5.3	0.2	12		52	1,8311		0,1,4155	no	missense,missense,missense,missense,missense,missense,missense,missense,missense,missense,missense,missense,missense,missense,missense,missense,missense,missense,missense,missense,missense,missense,missense	CACNA1C	NM_000719.6,NM_001129827.1,NM_001129829.1,NM_001129830.1,NM_001129831.1,NM_001129832.1,NM_001129833.1,NM_001129834.1,NM_001129835.1,NM_001129836.1,NM_001129837.1,NM_001129838.1,NM_001129839.1,NM_001129840.1,NM_001129841.1,NM_001129842.1,NM_001129843.1,NM_001129844.1,NM_001129846.1,NM_001167623.1,NM_001167624.1,NM_001167625.1,NM_199460.2	58,58,58,58,58,58,58,58,58,58,58,58,58,58,58,58,58,58,58,58,58,58,58	0,1,6146	AA,AG,GG		0.012,0.0,0.0081	benign,benign,benign,benign,benign,benign,benign,benign,benign,benign,benign,benign,benign,benign,benign,benign,benign,benign,benign,benign,benign,benign,benign	519/2139,519/2187,519/2180,519/2174,519/2167,519/2159,519/2158,519/2158,519/2158,519/2156,519/2147,519/2147,519/2145,519/2139,519/2139,519/2139,519/2139,516/2136,519/2128,519/2139,519/2174,519/2199,519/2222	2675634	1,12293	1991	4156	6147	SO:0001583	missense	775				axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity	g.chr12:2675634G>A	AF070589	CCDS44787.1, CCDS44788.1, CCDS44789.1, CCDS44790.1, CCDS44791.1, CCDS44792.1, CCDS44793.1, CCDS44794.1, CCDS44795.1, CCDS44796.1, CCDS44797.1, CCDS44798.1, CCDS44799.1, CCDS44800.1, CCDS44801.1, CCDS53733.1, CCDS53734.1, CCDS53735.1, CCDS53736.1	12p13.3	2014-09-17			ENSG00000151067	ENSG00000151067		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1390	protein-coding gene	gene with protein product		114205		CCHL1A1, CACNL1A1		1650913, 16382099	Standard	NM_001129832		Approved	Cav1.2, CACH2, CACN2, TS, LQT8	uc001qjy.3	Q13936	OTTHUMG00000150243	ENST00000347598.4:c.1555G>A	12.37:g.2675634G>A	ENSP00000266376:p.Ala519Thr					CACNA1C_ENST00000491104.1_3'UTR|CACNA1C_ENST00000327702.7_Missense_Mutation_p.A519T|CACNA1C_ENST00000399601.1_Missense_Mutation_p.A519T|CACNA1C_ENST00000399638.1_Missense_Mutation_p.A519T|CACNA1C_ENST00000335762.5_Missense_Mutation_p.A544T|CACNA1C_ENST00000406454.3_Missense_Mutation_p.A519T|CACNA1C_ENST00000399644.1_Missense_Mutation_p.A519T|CACNA1C_ENST00000399591.1_Missense_Mutation_p.A519T|CACNA1C_ENST00000399595.1_Missense_Mutation_p.A519T|CACNA1C_ENST00000399606.1_Missense_Mutation_p.A519T|CACNA1C_ENST00000399597.1_Missense_Mutation_p.A519T|CACNA1C_ENST00000402845.3_Missense_Mutation_p.A519T|CACNA1C_ENST00000399617.1_Missense_Mutation_p.A519T|CACNA1C_ENST00000399634.1_Missense_Mutation_p.A519T|CACNA1C_ENST00000399603.1_Missense_Mutation_p.A519T|CACNA1C_ENST00000480911.1_Missense_Mutation_p.A519T|CACNA1C_ENST00000399637.1_Missense_Mutation_p.A519T|CACNA1C_ENST00000399621.1_Missense_Mutation_p.A519T|CACNA1C_ENST00000347598.4_Missense_Mutation_p.A519T|CACNA1C_ENST00000399649.1_Missense_Mutation_p.A519T|CACNA1C_ENST00000399629.1_Missense_Mutation_p.A519T|CACNA1C_ENST00000399641.1_Missense_Mutation_p.A519T|CACNA1C_ENST00000344100.3_Missense_Mutation_p.A519T	p.A519T	NM_000719.6|NM_001129829.1|NM_001129834.1	NP_000710.5|NP_001123301.1|NP_001123306.1	Q13936	CAC1C_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	12	1820	+			519					B2RUT3|E9PDJ0|Q13917|Q13918|Q13919|Q13920|Q13921|Q13922|Q13923|Q13924|Q13925|Q13926|Q13927|Q13928|Q13929|Q13930|Q13932|Q13933|Q14743|Q14744|Q15877|Q4VMI7|Q4VMI8|Q4VMI9|Q6PKM7|Q8N6C0|Q99025|Q99241|Q99875	Missense_Mutation	SNP	ENST00000347598.4	37	c.1555G>A	CCDS44788.1	.	.	.	.	.	.	.	.	.	.	G	16.22	3.062835	0.55432	0.0	1.2E-4	ENSG00000151067	ENST00000335762;ENST00000399655;ENST00000480911;ENST00000399644;ENST00000399638;ENST00000399597;ENST00000399621;ENST00000399637;ENST00000399591;ENST00000399641;ENST00000347598;ENST00000399606;ENST00000399601;ENST00000344100;ENST00000399629;ENST00000327702;ENST00000399649;ENST00000402845;ENST00000399603;ENST00000399634;ENST00000399617;ENST00000406454;ENST00000399595;ENST00000322367	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.94138	-3.36;-3.36;-3.36;-3.36;-3.36;-3.36;-3.36;-3.36;-3.36;-3.36;-3.36;-3.36;-3.36;-3.36;-3.36;-3.36;-3.36;-3.36;-3.36;-3.36;-3.36;-3.36;-3.36	5.32	5.32	0.75619	.	0.109611	0.64402	D	0.000007	D	0.94941	0.8364	L	0.44542	1.39	0.80722	D	1	B;D;D;P;D;D;D;D;D;D;D;D;B;D;D;D;D;P;D;P;D;D;D;D;D;D	0.89917	0.145;1.0;1.0;0.954;0.999;1.0;1.0;1.0;0.973;0.994;1.0;1.0;0.407;1.0;1.0;1.0;1.0;0.796;1.0;0.696;1.0;1.0;1.0;1.0;1.0;1.0	B;D;D;B;D;D;D;D;P;P;D;D;B;D;D;D;D;B;D;B;D;D;D;D;D;D	0.87578	0.038;0.996;0.959;0.383;0.991;0.998;0.996;0.998;0.682;0.864;0.998;0.996;0.105;0.998;0.99;0.995;0.992;0.068;0.996;0.068;0.992;0.996;0.998;0.992;0.992;0.996	D	0.92296	0.5845	10	0.18710	T	0.47	.	19.1782	0.93612	0.0:0.0:1.0:0.0	.	188;519;516;519;519;519;519;519;519;519;519;519;490;519;519;519;519;519;519;519;519;519;519;519;519;519	Q5V9X8;Q13936-14;Q13936-35;Q13936;Q13936-33;Q13936-13;Q13936-22;Q13936-32;Q13936-31;Q13936-21;Q13936-30;Q13936-23;Q13936-28;Q13936-11;E9PDJ1;E9PDJ0;F5GY28;Q13936-25;Q13936-15;Q13936-29;Q13936-19;Q13936-24;Q13936-27;Q13936-20;F5H638;Q13936-12	.;.;.;CAC1C_HUMAN;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	T	544;519;519;519;519;519;519;519;519;519;519;519;519;519;519;519;519;519;519;519;519;519;519;360	ENSP00000336982:A544T;ENSP00000382563:A519T;ENSP00000437936:A519T;ENSP00000382552:A519T;ENSP00000382547:A519T;ENSP00000382506:A519T;ENSP00000382530:A519T;ENSP00000382546:A519T;ENSP00000382500:A519T;ENSP00000382549:A519T;ENSP00000266376:A519T;ENSP00000382515:A519T;ENSP00000382510:A519T;ENSP00000341092:A519T;ENSP00000382537:A519T;ENSP00000329877:A519T;ENSP00000382557:A519T;ENSP00000385724:A519T;ENSP00000382512:A519T;ENSP00000382542:A519T;ENSP00000382526:A519T;ENSP00000385896:A519T;ENSP00000382504:A519T	ENSP00000323129:A360T	A	+	1	0	CACNA1C	2545895	1.000000	0.71417	0.171000	0.22900	0.391000	0.30476	6.387000	0.73191	2.769000	0.95229	0.563000	0.77884	GCC		0.562	CACNA1C-017	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317035.1	NM_000719		6	1	0	0	0	1	0	6	1					A	2675634	G	A	2675634	3	1	435	1	0	0	0	0	1	0	0	0	2540	1087	38	1	1709	1	CACNA1C	12	2675634	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	16450	2675634	131176261	5520	26445											
NRIP2	83714	broad.mit.edu	37	chr12	2936421	2936421	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aggaagggtagctctgagaaCggggctttcagccgcagcac	10	6	15	10	2	2	1	1	1	1	1	2	3	2	2	1	4	4	5	1	4	3	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:2936421C>T	ENST00000337508.4	-	6	838	c.798G>A	c.(796-798)ccG>ccA	p.P266P	ITFG2_ENST00000542548.1_Intron	NM_031474.2	NP_113662.1	Q9BQI9	NRIP2_HUMAN	nuclear receptor interacting protein 2	266					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	aspartic-type endopeptidase activity (GO:0004190)			central_nervous_system(1)|endometrium(2)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	12			OV - Ovarian serous cystadenocarcinoma(31;0.000818)			GCTCTGAGAACGGGGCTTTCA	0.612																																						ENST00000337508.4																			0				central_nervous_system(1)|endometrium(2)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	12						c.(796-798)ccG>ccA		nuclear receptor interacting protein 2							75	63	67					12																	2936421		2203	4300	6503	SO:0001819	synonymous_variant	83714				proteolysis|transcription, DNA-dependent	cytoplasm|nucleus	aspartic-type endopeptidase activity	g.chr12:2936421C>T	AK054740	CCDS8514.1	12p13.33	2008-02-05			ENSG00000053702	ENSG00000053702			23078	protein-coding gene	gene with protein product						11230166	Standard	NM_031474		Approved	DKFZP761G1913	uc001qlc.3	Q9BQI9	OTTHUMG00000130616	ENST00000337508.4:c.798G>A	12.37:g.2936421C>T						ITFG2_ENST00000542548.1_Intron	p.P266P	NM_031474.2	NP_113662.1	Q9BQI9	NRIP2_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.000818)		6	838	-			266					A2RRE3|B4DV61	Silent	SNP	ENST00000337508.4	37	c.798G>A	CCDS8514.1																																																																																				0.612	NRIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253090.4	NM_031474		7	12	0	0	0	1	0	7	12					T	2936421	C	T	2936421	2	4	435	1	0	0	0	0	0	0	0	1	10653	523	19	1		1	NRIP2	12	2936421	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	260787	2936421	130915474	5521	26446											
NRIP2	83714	broad.mit.edu	37	chr12	2936801	2936801	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggtgccttaccttgagagaaAgcagagtctgcaggcccagg	10	7	14	10	0	1	3	0	1	1	2	1	4	1	3	3	3	4	2	3	3	2	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:2936801A>T	ENST00000337508.4	-	5	783	c.743T>A	c.(742-744)cTt>cAt	p.L248H	ITFG2_ENST00000542548.1_Intron	NM_031474.2	NP_113662.1	Q9BQI9	NRIP2_HUMAN	nuclear receptor interacting protein 2	248					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	aspartic-type endopeptidase activity (GO:0004190)			central_nervous_system(1)|endometrium(2)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	12			OV - Ovarian serous cystadenocarcinoma(31;0.000818)			CTTGAGAGAAAGCAGAGTCTG	0.527																																						ENST00000337508.4																			0				central_nervous_system(1)|endometrium(2)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	12						c.(742-744)cTt>cAt		nuclear receptor interacting protein 2							195	198	197					12																	2936801		2203	4300	6503	SO:0001583	missense	83714				proteolysis|transcription, DNA-dependent	cytoplasm|nucleus	aspartic-type endopeptidase activity	g.chr12:2936801A>T	AK054740	CCDS8514.1	12p13.33	2008-02-05			ENSG00000053702	ENSG00000053702			23078	protein-coding gene	gene with protein product						11230166	Standard	NM_031474		Approved	DKFZP761G1913	uc001qlc.3	Q9BQI9	OTTHUMG00000130616	ENST00000337508.4:c.743T>A	12.37:g.2936801A>T	ENSP00000337501:p.Leu248His					ITFG2_ENST00000542548.1_Intron	p.L248H	NM_031474.2	NP_113662.1	Q9BQI9	NRIP2_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.000818)		5	783	-			248					A2RRE3|B4DV61	Missense_Mutation	SNP	ENST00000337508.4	37	c.743T>A	CCDS8514.1	.	.	.	.	.	.	.	.	.	.	A	17.24	3.338422	0.60963	.	.	ENSG00000053702	ENST00000337508;ENST00000546074	T	0.41758	0.99	4.61	3.37	0.38596	Peptidase aspartic (1);Peptidase aspartic, eukaryotic predicted (1);	0.112377	0.36167	N	0.002745	T	0.55465	0.1922	M	0.65975	2.015	0.38931	D	0.957953	D	0.89917	1.0	D	0.72982	0.979	T	0.56038	-0.8045	10	0.33940	T	0.23	-11.0659	7.8256	0.29313	0.8147:0.0:0.0:0.1853	.	248	Q9BQI9	NRIP2_HUMAN	H	248;237	ENSP00000337501:L248H	ENSP00000337501:L248H	L	-	2	0	NRIP2	2807062	0.995000	0.38212	0.974000	0.42286	0.983000	0.72400	3.468000	0.53086	1.699000	0.51192	0.402000	0.26972	CTT		0.527	NRIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253090.4	NM_031474		14	125	0	0	0	1	0	14	125					T	2936801	A	T	2936801	3	4	435	1	0	0	0	0	1	0	0	0	10653	72	3	5	110	5	NRIP2	12	2936801	Missense_Mutation	SNP	A	TCGA-XK-AAIW-01A-11D-A41K-08	380	2936801	130915094	5522	26447											
FOXM1	2305	broad.mit.edu	37	chr12	2983405	2983405	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atgctgtgaatattagcattGttggggatggccactacttg	9	14	12	6	0	0	1	0	1	0	0	0	2	0	2	1	3	3	3	1	3	4	6			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:2983405G>A	ENST00000359843.3	-	2	308	c.240C>T	c.(238-240)aaC>aaT	p.N80N	FOXM1_ENST00000342628.2_Silent_p.N80N|RHNO1_ENST00000461997.2_5'Flank|FOXM1_ENST00000361953.3_Silent_p.N80N|RHNO1_ENST00000489288.2_5'Flank|FOXM1_ENST00000537018.1_5'Flank	NM_021953.3	NP_068772.2	Q08050	FOXM1_HUMAN	forkhead box M1	80					cell cycle (GO:0007049)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA repair (GO:0006281)|G2/M transition of mitotic cell cycle (GO:0000086)|liver development (GO:0001889)|mitotic cell cycle (GO:0000278)|negative regulation of cell aging (GO:0090344)|negative regulation of stress-activated MAPK cascade (GO:0032873)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)|positive regulation of double-strand break repair (GO:2000781)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell cycle (GO:0051726)|regulation of cell cycle arrest (GO:0071156)|regulation of cell growth (GO:0001558)|regulation of cell proliferation (GO:0042127)|regulation of Ras protein signal transduction (GO:0046578)|regulation of reactive oxygen species metabolic process (GO:2000377)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)|vasculogenesis (GO:0001570)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|protein kinase binding (GO:0019901)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(3)	24			OV - Ovarian serous cystadenocarcinoma(31;0.000622)			TATTAGCATTGTTGGGGATGG	0.507																																						ENST00000342628.2																			0				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(3)	24						c.(238-240)aaC>aaT		forkhead box M1							164	138	147					12																	2983405		2203	4300	6503	SO:0001819	synonymous_variant	2305				cell cycle|embryo development|liver development|negative regulation of cell aging|negative regulation of stress-activated MAPK cascade|negative regulation of transcription from RNA polymerase II promoter|pattern specification process|positive regulation of cell proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of cell cycle arrest|regulation of cell growth|regulation of cell proliferation|regulation of oxygen and reactive oxygen species metabolic process|regulation of Ras protein signal transduction|regulation of reactive oxygen species metabolic process|regulation of sequence-specific DNA binding transcription factor activity|tissue development|transcription from RNA polymerase II promoter|vasculogenesis	cytoplasm|transcription factor complex	DNA bending activity|DNA binding|double-stranded DNA binding|promoter binding|protein binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|transcription factor binding	g.chr12:2983405G>A	Y12773	CCDS8515.1, CCDS8516.1, CCDS8517.1	12p13	2007-09-18			ENSG00000111206	ENSG00000111206		"Forkhead boxes"	3818	protein-coding gene	gene with protein product	"M-phase phosphoprotein 2"	602341		FKHL16		9032290, 9441747	Standard	NM_202002		Approved	HFH-11, trident, HNF-3, INS-1, MPP2, MPHOSPH2, TGT3	uc001qlf.3	Q08050	OTTHUMG00000168118	ENST00000359843.3:c.240C>T	12.37:g.2983405G>A						FOXM1_ENST00000361953.3_Silent_p.N80N|FOXM1_ENST00000359843.3_Silent_p.N80N	p.N80N	NM_202002.2	NP_973731.1	Q08050	FOXM1_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.000622)		2	353	-			80					O43258|O43259|O43260|Q4ZGG7|Q9BRL2	Silent	SNP	ENST00000359843.3	37	c.240C>T	CCDS8515.1																																																																																				0.507	FOXM1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000398272.1	NM_021953		25	40	0	0	0	1	0	25	40					A	2983405	G	A	2983405	2	1	435	1	0	0	0	0	0	0	0	1	6018	1368	48	3		3	FOXM1	12	2983405	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	46604	2983405	130868490	5523	26448											
TSPAN9	10867	broad.mit.edu	37	chr12	3387724	3387724	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggcaccattgtcatggtgacGggcttcctcggctgcctggg	4	10	15	12	2	1	1	1	1	0	0	3	1	2	1	3	5	1	3	3	5	0	2	rs147946820		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:3387724G>A	ENST00000011898.5	+	4	362	c.201G>A	c.(199-201)acG>acA	p.T67T	TSPAN9_ENST00000407263.1_Silent_p.T67T|TSPAN9_ENST00000537971.1_Silent_p.T67T|TSPAN9_ENST00000492305.1_3'UTR	NM_006675.4	NP_006666.1	O75954	TSN9_HUMAN	tetraspanin 9	67						focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tetraspanin-enriched microdomain (GO:0097197)				endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	11			OV - Ovarian serous cystadenocarcinoma(31;0.00153)|COAD - Colon adenocarcinoma(12;0.0831)			TCATGGTGACGGGCTTCCTCG	0.572																																						ENST00000011898.5																			0				endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	11						c.(199-201)acG>acA		tetraspanin 9		G	,	0,4406		0,0,2203	124	112	116		201,201	-5.4	1	12	dbSNP_134	116	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	TSPAN9	NM_001168320.1,NM_006675.4	,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,	67/240,67/240	3387724	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	10867					integral to plasma membrane|membrane fraction		g.chr12:3387724G>A	AF089749	CCDS8520.1	12p13.33-p13.32	2013-02-14			ENSG00000011105	ENSG00000011105		"Tetraspanins"	21640	protein-coding gene	gene with protein product		613137				10719184, 11739647	Standard	NM_006675		Approved	NET-5	uc021qtd.1	O75954	OTTHUMG00000150333	ENST00000011898.5:c.201G>A	12.37:g.3387724G>A						TSPAN9_ENST00000407263.1_Silent_p.T67T|TSPAN9_ENST00000537971.1_Silent_p.T67T|TSPAN9_ENST00000492305.1_3'UTR	p.T67T	NM_006675.4	NP_006666.1	O75954	TSN9_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00153)|COAD - Colon adenocarcinoma(12;0.0831)		4	362	+			67					D3DUQ7|Q53FV2|Q6FGJ8	Silent	SNP	ENST00000011898.5	37	c.201G>A	CCDS8520.1																																																																																				0.572	TSPAN9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317606.2	NM_006675		20	33	0	0	0	1	0	20	33					A	3387724	G	A	3387724	2	1	435	1	0	0	0	0	0	0	0	1	16651	1103	39	2		2	TSPAN9	12	3387724	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	404319	3387724	130464171	5524	26449											
EFCAB4B	84766	broad.mit.edu	37	chr12	3763443	3763443	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tccaactgctgctgagcatcCtggagctcccaggaagtccg	8	8	11	14	1	0	1	0	1	0	0	4	3	4	3	4	2	5	4	4	2	2	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:3763443C>A	ENST00000252322.1	-	10	1449	c.981G>T	c.(979-981)caG>caT	p.Q327H	EFCAB4B_ENST00000440314.2_Missense_Mutation_p.Q327H|EFCAB4B_ENST00000444507.1_Missense_Mutation_p.Q327H	NM_032680.3	NP_116069.1	Q9BSW2	EFC4B_HUMAN		327					activation of store-operated calcium channel activity (GO:0032237)|immune system process (GO:0002376)|positive regulation of calcium ion transport (GO:0051928)|store-operated calcium entry (GO:0002115)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			breast(1)|endometrium(3)|large_intestine(2)|liver(1)|lung(12)|ovary(1)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(1)	24			OV - Ovarian serous cystadenocarcinoma(31;0.00287)|COAD - Colon adenocarcinoma(12;0.0264)			GCTGAGCATCCTGGAGCTCCC	0.552																																						ENST00000440314.2																			0				breast(1)|endometrium(3)|large_intestine(2)|liver(1)|lung(12)|ovary(1)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(1)	24						c.(979-981)caG>caT		EF-hand calcium binding domain 4B							75	71	72					12																	3763443		2203	4300	6503	SO:0001583	missense	84766				activation of store-operated calcium channel activity|store-operated calcium entry	cytoplasm	calcium ion binding|protein binding	g.chr12:3763443C>A																												ENST00000252322.1:c.981G>T	12.37:g.3763443C>A	ENSP00000252322:p.Gln327His					EFCAB4B_ENST00000444507.1_Missense_Mutation_p.Q327H|EFCAB4B_ENST00000252322.1_Missense_Mutation_p.Q327H	p.Q327H	NM_001144958.1	NP_001138430.1	Q9BSW2	EFC4B_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00287)|COAD - Colon adenocarcinoma(12;0.0264)		10	1454	-			327					B4E1X0|B9EK63	Missense_Mutation	SNP	ENST00000252322.1	37	c.981G>T	CCDS8522.1	.	.	.	.	.	.	.	.	.	.	C	3.270	-0.149379	0.06585	.	.	ENSG00000130038	ENST00000440314;ENST00000444507;ENST00000252322	T;T;T	0.62364	0.03;2.48;2.48	4.27	3.36	0.38483	.	1.053770	0.07343	N	0.881106	T	0.60983	0.2311	L	0.50333	1.59	0.09310	N	1	B;P;P	0.41569	0.006;0.755;0.553	B;P;B	0.44946	0.006;0.465;0.204	T	0.53676	-0.8405	10	0.54805	T	0.06	-5.5809	6.7622	0.23546	0.0:0.7906:0.0:0.2094	.	327;327;327	D7UEQ6;Q9BSW2-2;Q9BSW2	.;.;EFC4B_HUMAN	H	327	ENSP00000409382:Q327H;ENSP00000412496:Q327H;ENSP00000252322:Q327H	ENSP00000252322:Q327H	Q	-	3	2	EFCAB4B	3633704	0.000000	0.05858	0.407000	0.26434	0.014000	0.08584	0.295000	0.19065	2.211000	0.71520	0.462000	0.41574	CAG		0.552	EFCAB4B-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000398673.1			6	40	1	0	3.59834e-05	1	3.7043e-05	6	40					A	3763443	C	A	3763443	3	1	435	1	0	0	0	0	1	0	0	0	4937	680	24	5	1450	5	EFCAB4B	12	3763443	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	375719	3763443	130088452	5525	26450											
C12orf5	57103	broad.mit.edu	37	chr12	4459010	4459010	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcatggaattttggagagaaGcaaattttgcaaagatatga	16	11	11	3	0	0	3	0	1	0	2	0	6	0	5	0	2	2	3	0	2	5	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:4459010G>T	ENST00000179259.4	+	4	285	c.218G>T	c.(217-219)aGc>aTc	p.S73I	C12orf5_ENST00000537251.1_3'UTR	NM_020375.2	NP_065108.1	Q9NQ88	TIGAR_HUMAN	chromosome 12 open reading frame 5	73					intestinal epithelial cell development (GO:0060576)|negative regulation of macromitophagy (GO:1901525)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|response to gamma radiation (GO:0010332)|response to xenobiotic stimulus (GO:0009410)	intracellular (GO:0005622)	fructose-2,6-bisphosphate 2-phosphatase activity (GO:0004331)			endometrium(1)|large_intestine(1)|lung(5)|skin(3)	10			all cancers(3;1.15e-07)|Colorectal(7;0.00165)|OV - Ovarian serous cystadenocarcinoma(31;0.00596)|COAD - Colon adenocarcinoma(12;0.0229)|GBM - Glioblastoma multiforme(3;0.0266)|STAD - Stomach adenocarcinoma(119;0.206)			TTGGAGAGAAGCAAATTTTGC	0.338																																					Colon(1;100 192 35375 49454 52532)	ENST00000179259.4																			0				endometrium(1)|large_intestine(1)|lung(5)|skin(3)	10						c.(217-219)aGc>aTc		chromosome 12 open reading frame 5							96	99	98					12																	4459010		2203	4300	6503	SO:0001583	missense	57103					intracellular	fructose-2,6-bisphosphate 2-phosphatase activity	g.chr12:4459010G>T	AJ272206	CCDS8525.1	12p13.32	2014-05-29	2009-11-24	2009-11-24	ENSG00000078237	ENSG00000078237	3.1.3.46		1185	protein-coding gene	gene with protein product	"TP53-induced glycolysis and apoptosis regulator"	610775				16140933, 16839880, 18945750, 19713938	Standard	NM_020375		Approved	TIGAR	uc001qmp.3	Q9NQ88		ENST00000179259.4:c.218G>T	12.37:g.4459010G>T	ENSP00000179259:p.Ser73Ile					C12orf5_ENST00000537251.1_3'UTR	p.S73I	NM_020375.2	NP_065108.1	Q9NQ88	TIGAR_HUMAN	all cancers(3;1.15e-07)|Colorectal(7;0.00165)|OV - Ovarian serous cystadenocarcinoma(31;0.00596)|COAD - Colon adenocarcinoma(12;0.0229)|GBM - Glioblastoma multiforme(3;0.0266)|STAD - Stomach adenocarcinoma(119;0.206)		4	285	+			73					B2R840	Missense_Mutation	SNP	ENST00000179259.4	37	c.218G>T	CCDS8525.1	.	.	.	.	.	.	.	.	.	.	G	16.21	3.059033	0.55325	.	.	ENSG00000078237	ENST00000179259	T	0.79653	-1.29	4.58	0.266	0.15617	Histidine phosphatase superfamily, clade-1 (2);	0.327305	0.38111	N	0.001817	T	0.72028	0.3410	N	0.16743	0.435	0.28591	N	0.90965	D	0.56746	0.977	P	0.61003	0.882	T	0.65232	-0.6218	10	0.16896	T	0.51	-17.1796	5.5045	0.16846	0.444:0.1391:0.417:0.0	.	73	Q9NQ88	TIGAR_HUMAN	I	73	ENSP00000179259:S73I	ENSP00000179259:S73I	S	+	2	0	C12orf5	4329271	0.173000	0.23056	0.743000	0.31040	0.923000	0.55619	-0.025000	0.12413	-0.053000	0.13289	0.655000	0.94253	AGC		0.338	C12orf5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398290.1	NM_020375		9	38	1	0	0.0581538	1	0.0584448	9	38					T	4459010	G	T	4459010	3	4	435	1	0	0	0	0	1	0	0	0	1694	971	34	5	232	5	C12orf5	12	4459010	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	695567	4459010	129392885	5526	26451											
FGF23	8074	broad.mit.edu	37	chr12	4479656	4479656	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agctcctgtgaacaggaggcCggggccggggtcatccgggc	6	5	18	12	3	1	1	1	1	0	0	3	2	3	2	4	7	2	1	4	7	1	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:4479656C>T	ENST00000237837.1	-	3	754	c.609G>A	c.(607-609)ccG>ccA	p.P203P		NM_020638.2	NP_065689.1	Q9GZV9	FGF23_HUMAN	fibroblast growth factor 23	203					cell differentiation (GO:0030154)|cellular phosphate ion homeostasis (GO:0030643)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|negative regulation of bone mineralization (GO:0030502)|negative regulation of hormone secretion (GO:0046888)|negative regulation of osteoblast differentiation (GO:0045668)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphate ion homeostasis (GO:0055062)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway (GO:0090080)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of vitamin D 24-hydroxylase activity (GO:0010980)|regulation of phosphate transport (GO:0010966)|vitamin D catabolic process (GO:0042369)	extracellular region (GO:0005576)|extracellular space (GO:0005615)				NS(1)|breast(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	22			Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)|STAD - Stomach adenocarcinoma(119;0.206)			AACAGGAGGCCGGGGCCGGGG	0.706																																						ENST00000237837.1																			0				NS(1)|breast(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	22						c.(607-609)ccG>ccA		fibroblast growth factor 23							17	21	19					12																	4479656		2201	4298	6499	SO:0001819	synonymous_variant	8074				cell differentiation|insulin receptor signaling pathway|negative regulation of bone mineralization|negative regulation of hormone secretion|negative regulation of osteoblast differentiation|positive regulation of vitamin D 24-hydroxylase activity|regulation of phosphate transport|vitamin D catabolic process	extracellular space	growth factor activity	g.chr12:4479656C>T	AF263537	CCDS8526.1	12p13	2008-07-04			ENSG00000118972	ENSG00000118972			3680	protein-coding gene	gene with protein product		605380				11032749, 18310961	Standard	NM_020638		Approved		uc001qmq.1	Q9GZV9	OTTHUMG00000168241	ENST00000237837.1:c.609G>A	12.37:g.4479656C>T							p.P203P	NM_020638.2	NP_065689.1	Q9GZV9	FGF23_HUMAN	Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)|STAD - Stomach adenocarcinoma(119;0.206)		3	754	-			203					Q4V758	Silent	SNP	ENST00000237837.1	37	c.609G>A	CCDS8526.1																																																																																				0.706	FGF23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398936.1			13	18	0	0	0	1	0	13	18					T	4479656	C	T	4479656	2	4	435	1	0	0	0	0	0	0	0	1	5852	639	23	2		2	FGF23	12	4479656	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	20646	4479656	129372239	5527	26452											
FGF23	8074	broad.mit.edu	37	chr12	4479680	4479680	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gccggggtcatccgggcccgGggcttcagcacgttcagggg	4	6	18	13	4	3	0	3	0	0	0	4	0	4	0	3	7	1	3	3	7	0	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:4479680G>A	ENST00000237837.1	-	3	730	c.585C>T	c.(583-585)ccC>ccT	p.P195P		NM_020638.2	NP_065689.1	Q9GZV9	FGF23_HUMAN	fibroblast growth factor 23	195			P -> S (in dbSNP:rs13312793). {ECO:0000269|Ref.5}.		cell differentiation (GO:0030154)|cellular phosphate ion homeostasis (GO:0030643)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|negative regulation of bone mineralization (GO:0030502)|negative regulation of hormone secretion (GO:0046888)|negative regulation of osteoblast differentiation (GO:0045668)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphate ion homeostasis (GO:0055062)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway (GO:0090080)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of vitamin D 24-hydroxylase activity (GO:0010980)|regulation of phosphate transport (GO:0010966)|vitamin D catabolic process (GO:0042369)	extracellular region (GO:0005576)|extracellular space (GO:0005615)				NS(1)|breast(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	22			Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)|STAD - Stomach adenocarcinoma(119;0.206)			TCCGGGCCCGGGGCTTCAGCA	0.682																																						ENST00000237837.1																			0				NS(1)|breast(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	22						c.(583-585)ccC>ccT		fibroblast growth factor 23							16	21	19					12																	4479680		2190	4295	6485	SO:0001819	synonymous_variant	8074				cell differentiation|insulin receptor signaling pathway|negative regulation of bone mineralization|negative regulation of hormone secretion|negative regulation of osteoblast differentiation|positive regulation of vitamin D 24-hydroxylase activity|regulation of phosphate transport|vitamin D catabolic process	extracellular space	growth factor activity	g.chr12:4479680G>A	AF263537	CCDS8526.1	12p13	2008-07-04			ENSG00000118972	ENSG00000118972			3680	protein-coding gene	gene with protein product		605380				11032749, 18310961	Standard	NM_020638		Approved		uc001qmq.1	Q9GZV9	OTTHUMG00000168241	ENST00000237837.1:c.585C>T	12.37:g.4479680G>A							p.P195P	NM_020638.2	NP_065689.1	Q9GZV9	FGF23_HUMAN	Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)|STAD - Stomach adenocarcinoma(119;0.206)		3	730	-			195		P -> S (in dbSNP:rs13312793).			Q4V758	Silent	SNP	ENST00000237837.1	37	c.585C>T	CCDS8526.1																																																																																				0.682	FGF23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398936.1			11	20	0	0	0	1	0	11	20					A	4479680	G	A	4479680	2	1	435	1	0	0	0	0	0	0	0	1	5852	1219	43	3		3	FGF23	12	4479680	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	24	4479680	129372215	5528	26453											
DYRK4	8798	broad.mit.edu	37	chr12	4700381	4700381	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gctcaaggcttcagaaatacCtttccaccctagcattaaaa	14	10	5	12	0	2	1	2	0	0	1	3	1	3	1	3	1	2	3	3	1	6	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:4700381C>A	ENST00000540757.2	+	3	195	c.35C>A	c.(34-36)cCt>cAt	p.P12H	DYRK4_ENST00000543431.1_Missense_Mutation_p.P12H|DYRK4_ENST00000010132.5_Missense_Mutation_p.P12H	NM_001282285.1|NM_001282286.1|NM_003845.1	NP_001269214.1|NP_001269215.1|NP_003836.1	Q9NR20	DYRK4_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 4	12						cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)			central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27			Colorectal(7;0.103)			TCAGAAATACCTTTCCACCCT	0.483																																						ENST00000540757.2																			0				central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27						c.(34-36)cCt>cAt		dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 4							88	79	82					12																	4700381		2203	4300	6503	SO:0001583	missense	8798					Golgi apparatus	ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr12:4700381C>A	Y09305	CCDS8530.1	12p13.32	2014-09-11			ENSG00000010219	ENSG00000010219			3095	protein-coding gene	gene with protein product		609181				9748265	Standard	NM_003845		Approved		uc001qmx.3	Q9NR20	OTTHUMG00000168204	ENST00000540757.2:c.35C>A	12.37:g.4700381C>A	ENSP00000441755:p.Pro12His					DYRK4_ENST00000543431.1_Missense_Mutation_p.P12H|DYRK4_ENST00000010132.5_Missense_Mutation_p.P12H	p.P12H	NM_003845.1	NP_003836.1	Q9NR20	DYRK4_HUMAN	Colorectal(7;0.103)		3	195	+			12					A8K8F7|Q8NEF2|Q92631	Missense_Mutation	SNP	ENST00000540757.2	37	c.35C>A	CCDS8530.1	.	.	.	.	.	.	.	.	.	.	C	13.43	2.233538	0.39498	.	.	ENSG00000010219	ENST00000542744;ENST00000540757;ENST00000010132;ENST00000543431	T;T;T;T	0.64438	-0.1;-0.08;-0.08;-0.08	4.34	-1.3	0.09259	.	1.092680	0.07238	N	0.863748	T	0.50905	0.1643	L	0.51422	1.61	0.09310	N	1	P;P;D	0.55172	0.785;0.545;0.97	B;B;B	0.41946	0.345;0.371;0.343	T	0.46428	-0.9192	10	0.44086	T	0.13	.	4.2242	0.10572	0.0:0.3383:0.1804:0.4813	.	127;12;12	F5H6L9;Q9NR20-2;Q9NR20	.;.;DYRK4_HUMAN	H	127;12;12;12	ENSP00000437534:P127H;ENSP00000441755:P12H;ENSP00000010132:P12H;ENSP00000439697:P12H	ENSP00000010132:P12H	P	+	2	0	DYRK4	4570642	0.000000	0.05858	0.000000	0.03702	0.330000	0.28571	-0.123000	0.10611	-0.140000	0.11394	0.505000	0.49811	CCT		0.483	DYRK4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000398780.2			16	32	1	0	2.23348e-06	1	2.32236e-06	16	32					A	4700381	C	A	4700381	3	1	435	1	0	0	0	0	1	0	0	0	4858	681	24	5	37	5	DYRK4	12	4700381	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	220701	4700381	129151514	5529	26454											
KCNA1	3736	broad.mit.edu	37	chr12	5021063	5021063	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agggtcatcgccatcgtctcCgtcatggtcatcctcatctc	6	12	8	15	3	6	0	4	0	2	0	11	0	7	0	3	2	0	0	3	2	0	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:5021063C>T	ENST00000382545.3	+	2	1626	c.519C>T	c.(517-519)tcC>tcT	p.S173S	KCNA1_ENST00000543874.2_Intron	NM_000217.2	NP_000208.2	Q09470	KCNA1_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 1 (episodic ataxia with myokymia)	173					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	apical plasma membrane (GO:0016324)|dendrite (GO:0030425)|juxtaparanode region of axon (GO:0044224)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)|potassium ion transmembrane transporter activity (GO:0015079)			NS(1)|breast(3)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(23)|ovary(3)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63					Amitriptyline(DB00321)|Dalfampridine(DB06637)|Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Nifedipine(DB01115)|Sevoflurane(DB01236)	CCATCGTCTCCGTCATGGTCA	0.627																																						ENST00000382545.3																			0				NS(1)|breast(3)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(23)|ovary(3)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63						c.(517-519)tcC>tcT		potassium voltage-gated channel, shaker-related subfamily, member 1 (episodic ataxia with myokymia)	Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)						88	86	87					12																	5021063		2203	4300	6503	SO:0001819	synonymous_variant	3736				synaptic transmission	juxtaparanode region of axon|voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium ion transmembrane transporter activity	g.chr12:5021063C>T	L02750	CCDS8535.1	12p13	2012-07-05			ENSG00000111262	ENSG00000111262		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6218	protein-coding gene	gene with protein product		176260		AEMK		1349297, 8821794, 16382104	Standard	NM_000217		Approved	Kv1.1, RBK1, HUK1, MBK1	uc001qnh.3	Q09470	OTTHUMG00000044398	ENST00000382545.3:c.519C>T	12.37:g.5021063C>T						KCNA1_ENST00000543874.2_Intron	p.S173S	NM_000217.2	NP_000208.2	Q09470	KCNA1_HUMAN			2	1626	+			173					A6NM83|Q3MIQ9	Silent	SNP	ENST00000382545.3	37	c.519C>T	CCDS8535.1																																																																																				0.627	KCNA1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103343.2	NM_000217		6	55	0	0	0	1	0	6	55					T	5021063	C	T	5021063	2	4	435	1	0	0	0	0	0	0	0	1	8001	639	23	2		2	KCNA1	12	5021063	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	320682	5021063	128830832	5530	26455											
VWF	7450	broad.mit.edu	37	chr12	6167158	6167158	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ggaagtcgtcgccctggttgCcattgtaattcccacacagg	8	10	11	12	2	0	0	0	0	0	0	3	1	1	1	3	3	1	2	3	3	2	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:6167158C>T	ENST00000261405.5	-	14	1840	c.1586G>A	c.(1585-1587)gGc>gAc	p.G529D		NM_000552.3	NP_000543	P04275	VWF_HUMAN	von Willebrand factor	529	VWFD 2. {ECO:0000255|PROSITE- ProRule:PRU00580}.				blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|cell-substrate adhesion (GO:0031589)|extracellular matrix organization (GO:0030198)|hemostasis (GO:0007599)|liver development (GO:0001889)|placenta development (GO:0001890)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|protein homooligomerization (GO:0051260)|response to wounding (GO:0009611)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|proteinaceous extracellular matrix (GO:0005578)|Weibel-Palade body (GO:0033093)	chaperone binding (GO:0051087)|collagen binding (GO:0005518)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|immunoglobulin binding (GO:0019865)|integrin binding (GO:0005178)|protease binding (GO:0002020)|protein homodimerization activity (GO:0042803)|protein N-terminus binding (GO:0047485)			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	GCCCTGGTTGCCATTGTAATT	0.667																																						ENST00000261405.5																			0				NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129						c.(1585-1587)gGc>gAc		von Willebrand factor	Antihemophilic Factor(DB00025)						54	55	55					12																	6167158		2203	4300	6503	SO:0001583	missense	7450				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding	g.chr12:6167158C>T		CCDS8539.1	12p13.3	2014-09-17			ENSG00000110799	ENSG00000110799		"Endogenous ligands"	12726	protein-coding gene	gene with protein product		613160		F8VWF		2251280	Standard	NM_000552		Approved		uc001qnn.1	P04275	OTTHUMG00000168265	ENST00000261405.5:c.1586G>A	12.37:g.6167158C>T	ENSP00000261405:p.Gly529Asp						p.G529D	NM_000552.3	NP_000543.2	P04275	VWF_HUMAN			14	1840	-			529			VWFD 2.		Q8TCE8|Q99806	Missense_Mutation	SNP	ENST00000261405.5	37	c.1586G>A	CCDS8539.1	.	.	.	.	.	.	.	.	.	.	C	27.7	4.851205	0.91277	.	.	ENSG00000110799	ENST00000261405	T	0.63096	-0.02	4.94	4.94	0.65067	von Willebrand factor, type D domain (3);	0.000000	0.41001	D	0.000975	T	0.79021	0.4376	M	0.75777	2.31	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.79771	-0.1663	10	0.49607	T	0.09	.	17.3452	0.87308	0.0:1.0:0.0:0.0	.	529;529	B4DNX0;P04275	.;VWF_HUMAN	D	529	ENSP00000261405:G529D	ENSP00000261405:G529D	G	-	2	0	VWF	6037419	1.000000	0.71417	0.961000	0.40146	0.869000	0.49853	7.289000	0.78701	2.567000	0.86603	0.491000	0.48974	GGC		0.667	VWF-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399020.1	NM_000552		28	43	0	0	0	1	0	28	43					T	6167158	C	T	6167158	3	4	435	1	0	0	0	0	1	0	0	0	17243	739	26	3	7011	3	VWF	12	6167158	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	1146095	6167158	127684737	5531	26456											
CD9	928	broad.mit.edu	37	chr12	6342621	6342621	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	attcgccattgaaatagctgCggccatctggggatattccc	9	11	10	11	2	1	1	0	1	1	0	3	2	2	2	3	3	2	1	3	3	3	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:6342621C>T	ENST00000382518.1	+	5	753	c.317C>T	c.(316-318)gCg>gTg	p.A106V	CD9_ENST00000382515.2_Missense_Mutation_p.A37V|CD9_ENST00000009180.4_Missense_Mutation_p.A106V|CD9_ENST00000481267.1_3'UTR|Y_RNA_ENST00000365448.1_RNA			P21926	CD9_HUMAN	CD9 molecule	106					blood coagulation (GO:0007596)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cellular component movement (GO:0006928)|fusion of sperm to egg plasma membrane (GO:0007342)|multicellular organism reproduction (GO:0032504)|negative regulation of cell proliferation (GO:0008285)|oligodendrocyte development (GO:0014003)|paranodal junction assembly (GO:0030913)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|response to water deprivation (GO:0009414)|single fertilization (GO:0007338)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|platelet alpha granule membrane (GO:0031092)|vesicle (GO:0031982)				endometrium(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|skin(1)|stomach(1)	8						GAAATAGCTGCGGCCATCTGG	0.542																																						ENST00000382518.1																			0				endometrium(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|skin(1)|stomach(1)	8						c.(316-318)gCg>gTg		CD9 molecule							127	112	117					12																	6342621		2203	4300	6503	SO:0001583	missense	928				cell adhesion|cellular component movement|fusion of sperm to egg plasma membrane|paranodal junction assembly|platelet activation|platelet degranulation	integral to plasma membrane|platelet alpha granule membrane		g.chr12:6342621C>T	M38690	CCDS8540.1	12p13	2013-02-14	2006-03-28		ENSG00000010278	ENSG00000010278		"CD molecules", "Tetraspanins"	1709	protein-coding gene	gene with protein product	"motility related protein-1"	143030	"CD9 antigen (p24)"	MIC3		6198179	Standard	NM_001769		Approved	BA2, P24, TSPAN29, MRP-1	uc001qnq.2	P21926	OTTHUMG00000044400	ENST00000382518.1:c.317C>T	12.37:g.6342621C>T	ENSP00000371958:p.Ala106Val					CD9_ENST00000382515.2_Missense_Mutation_p.A37V|CD9_ENST00000009180.4_Missense_Mutation_p.A106V|CD9_ENST00000481267.1_3'UTR	p.A106V			P21926	CD9_HUMAN			5	753	+			106					D3DUQ9|Q5J7W6|Q96ES4	Missense_Mutation	SNP	ENST00000382518.1	37	c.317C>T	CCDS8540.1	.	.	.	.	.	.	.	.	.	.	C	19.26	3.792863	0.70452	.	.	ENSG00000010278	ENST00000382518;ENST00000536586;ENST00000382519;ENST00000425469;ENST00000543424;ENST00000009180;ENST00000382515	T;T;T;T;T	0.79845	-1.31;-1.31;-1.31;-1.31;-1.31	5.87	5.87	0.94306	.	0.043935	0.85682	D	0.000000	D	0.86908	0.6046	M	0.69248	2.105	0.80722	D	1	D;P	0.62365	0.991;0.772	P;P	0.58721	0.844;0.537	D	0.85563	0.1229	10	0.40728	T	0.16	.	17.6998	0.88291	0.0:1.0:0.0:0.0	.	106;106	B4DK09;P21926	.;CD9_HUMAN	V	106;106;129;106;19;106;37	ENSP00000371958:A106V;ENSP00000440985:A106V;ENSP00000371959:A129V;ENSP00000009180:A106V;ENSP00000371955:A37V	ENSP00000009180:A106V	A	+	2	0	CD9	6212882	0.999000	0.42202	0.351000	0.25721	0.059000	0.15707	4.183000	0.58317	2.785000	0.95823	0.655000	0.94253	GCG		0.542	CD9-004	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103348.1			24	34	0	0	0	1	0	24	34					T	6342621	C	T	6342621	3	4	435	1	0	0	0	0	1	0	0	0	3046	768	27	1	331	1	CD9	12	6342621	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	175463	6342621	127509274	5532	26457											
TNFRSF1A	7132	broad.mit.edu	37	chr12	6438599	6438599	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gtcccagcagctccagcgtgGcctcgcgccgcggcgtgcgc	3	5	15	18	7	0	0	0	0	0	0	3	0	2	0	4	2	4	2	4	2	0	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:6438599G>A	ENST00000162749.2	-	10	1546	c.1247C>T	c.(1246-1248)gCc>gTc	p.A416V	TNFRSF1A_ENST00000540022.1_Missense_Mutation_p.A373V|TNFRSF1A_ENST00000437813.3_5'Flank	NM_001065.3	NP_001056.1	P19438	TNR1A_HUMAN	tumor necrosis factor receptor superfamily, member 1A	416	Death. {ECO:0000255|PROSITE- ProRule:PRU00064}.				apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cellular response to estradiol stimulus (GO:0071392)|cellular response to mechanical stimulus (GO:0071260)|cytokine-mediated signaling pathway (GO:0019221)|defense response to bacterium (GO:0042742)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|inflammatory response (GO:0006954)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of apoptotic process (GO:0043066)|negative regulation of gene expression (GO:0010629)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-6 production (GO:0032715)|positive regulation of angiogenesis (GO:0045766)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of inflammatory response (GO:0050729)|positive regulation of protein import into nucleus, translocation (GO:0033160)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|prostaglandin metabolic process (GO:0006693)|protein heterooligomerization (GO:0051291)|response to alkaloid (GO:0043279)|response to amino acid (GO:0043200)|response to ethanol (GO:0045471)|response to hypoxia (GO:0001666)|response to lipopolysaccharide (GO:0032496)|response to wounding (GO:0009611)|tetrapyrrole metabolic process (GO:0033013)|viral process (GO:0016032)	axon (GO:0030424)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	tumor necrosis factor-activated receptor activity (GO:0005031)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	19						CTCCAGCGTGGCCTCGCGCCG	0.731																																						ENST00000162749.2																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	19						c.(1246-1248)gCc>gTc		tumor necrosis factor receptor superfamily, member 1A																																				SO:0001583	missense	7132				apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|inflammatory response|interspecies interaction between organisms|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of inflammatory response|positive regulation of transcription from RNA polymerase II promoter|prostaglandin metabolic process	extracellular region|integral to plasma membrane|membrane raft	tumor necrosis factor receptor activity	g.chr12:6438599G>A	M75866	CCDS8542.1	12p13.2	2014-09-17			ENSG00000067182	ENSG00000067182		"Tumor necrosis factor receptor superfamily", "CD molecules"	11916	protein-coding gene	gene with protein product		191190		TNFR1		1655358, 2158863	Standard	NM_001065		Approved	TNF-R, TNFAR, TNFR60, TNF-R-I, CD120a, TNF-R55	uc001qnu.3	P19438	OTTHUMG00000168267	ENST00000162749.2:c.1247C>T	12.37:g.6438599G>A	ENSP00000162749:p.Ala416Val					TNFRSF1A_ENST00000540022.1_Missense_Mutation_p.A373V	p.A416V	NM_001065.3	NP_001056.1	P19438	TNR1A_HUMAN			10	1546	-			416			Death.		A8K4X3|B2RDE4|B3KPQ1|B4DQB7|B4E309|B5M0B5|D3DUR1|Q9UCA4	Missense_Mutation	SNP	ENST00000162749.2	37	c.1247C>T	CCDS8542.1	.	.	.	.	.	.	.	.	.	.	G	25.1	4.602591	0.87157	.	.	ENSG00000067182	ENST00000162749;ENST00000540022	D;D	0.89343	-2.5;-2.5	4.88	2.95	0.34219	Death (3);DEATH-like (2);	1.476790	0.04128	N	0.317402	D	0.94321	0.8175	M	0.70595	2.14	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79784	0.967;0.993	D	0.83535	0.0093	10	0.59425	D	0.04	-24.2475	11.873	0.52531	0.0:0.0:0.6844:0.3155	.	373;416	F5H061;P19438	.;TNR1A_HUMAN	V	416;373	ENSP00000162749:A416V;ENSP00000438343:A373V	ENSP00000162749:A416V	A	-	2	0	TNFRSF1A	6308860	0.981000	0.34729	0.993000	0.49108	0.988000	0.76386	2.068000	0.41471	0.507000	0.28148	0.561000	0.74099	GCC		0.731	TNFRSF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399038.1	NM_001065		4	6	0	0	0	1	0	4	6					A	6438599	G	A	6438599	3	1	435	1	0	0	0	0	1	0	0	0	16290	1203	42	3	124	3	TNFRSF1A	12	6438599	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	95978	6438599	127413296	5533	26458											
NCAPD2	9918	broad.mit.edu	37	chr12	6626006	6626006	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tctcttagaattacatgatgCgtaatgctgtgctggcagcc	9	13	10	9	1	1	2	0	1	1	1	2	2	1	2	1	1	5	4	1	1	4	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:6626006C>T	ENST00000315579.5	+	10	1799	c.1000C>T	c.(1000-1002)Cgt>Tgt	p.R334C	NCAPD2_ENST00000545962.1_Missense_Mutation_p.R289C	NM_014865.3	NP_055680.3	Q15021	CND1_HUMAN	non-SMC condensin I complex, subunit D2	334	Interactions with SMC2 and SMC4.				mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	condensed chromosome (GO:0000793)|condensin complex (GO:0000796)|condensin core heterodimer (GO:0000797)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|pronucleus (GO:0045120)	histone binding (GO:0042393)			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	48						TTACATGATGCGTAATGCTGT	0.502																																						ENST00000315579.5																			0				NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	48						c.(1000-1002)Cgt>Tgt		non-SMC condensin I complex, subunit D2							81	75	77					12																	6626006		2203	4300	6503	SO:0001583	missense	9918				cell division|mitotic chromosome condensation	condensin core heterodimer|cytoplasm	histone binding	g.chr12:6626006C>T	D63880	CCDS8548.1	12p13.31	2008-02-04			ENSG00000010292	ENSG00000010292			24305	protein-coding gene	gene with protein product	"chromosome condensation related SMC associated protein 1"	615638				8590280, 10958694	Standard	NM_014865		Approved	CNAP1, hCAP-D2, CAP-D2, KIAA0159	uc001qoo.2	Q15021	OTTHUMG00000168513	ENST00000315579.5:c.1000C>T	12.37:g.6626006C>T	ENSP00000325017:p.Arg334Cys					NCAPD2_ENST00000545962.1_Missense_Mutation_p.R289C	p.R334C	NM_014865.3	NP_055680.3	Q15021	CND1_HUMAN			10	1799	+			334			Interactions with SMC2 and SMC4.		D3DUR4|Q8N6U3	Missense_Mutation	SNP	ENST00000315579.5	37	c.1000C>T	CCDS8548.1	.	.	.	.	.	.	.	.	.	.	C	23.9	4.471971	0.84533	.	.	ENSG00000010292	ENST00000315579;ENST00000382457;ENST00000545962;ENST00000535602	T;T;T	0.26810	1.71;1.71;1.71	5.35	5.35	0.76521	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.58148	0.2102	M	0.90542	3.125	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.66638	-0.5873	10	0.87932	D	0	-16.0848	13.9765	0.64277	0.1516:0.8484:0.0:0.0	.	289;295;334	F5GZJ1;B3KY03;Q15021	.;.;CND1_HUMAN	C	334;206;289;206	ENSP00000325017:R334C;ENSP00000371895:R206C;ENSP00000444417:R289C	ENSP00000325017:R334C	R	+	1	0	NCAPD2	6496267	1.000000	0.71417	1.000000	0.80357	0.911000	0.54048	4.184000	0.58323	2.493000	0.84123	0.455000	0.32223	CGT		0.502	NCAPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399964.1	NM_014865		16	28	0	0	0	1	0	16	28					T	6626006	C	T	6626006	3	4	435	1	0	0	0	0	1	0	0	0	10205	768	27	1	1034	1	NCAPD2	12	6626006	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	187407	6626006	127225889	5534	26459											
GAPDH	2597	broad.mit.edu	37	chr12	6645760	6645760	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tcattgacctcaactacatgGtgagtgctacatggtgagcc	10	11	10	10	0	2	3	2	3	0	0	2	3	2	3	2	2	5	1	2	2	3	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:6645760G>A	ENST00000229239.5	+	3	795		c.e3+1		GAPDH_ENST00000396856.1_Splice_Site|GAPDH_ENST00000396859.1_Splice_Site|RP5-940J5.9_ENST00000602946.1_RNA|GAPDH_ENST00000396861.1_Splice_Site|GAPDH_ENST00000396858.1_Splice_Site	NM_002046.4	NP_002037.2	P04406	G3P_HUMAN	glyceraldehyde-3-phosphate dehydrogenase						carbohydrate metabolic process (GO:0005975)|cellular response to interferon-gamma (GO:0071346)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|microtubule cytoskeleton organization (GO:0000226)|negative regulation of translation (GO:0017148)|neuron apoptotic process (GO:0051402)|peptidyl-cysteine S-trans-nitrosylation (GO:0035606)|protein stabilization (GO:0050821)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|GAIT complex (GO:0097452)|lipid particle (GO:0005811)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ribonucleoprotein complex (GO:0030529)|vesicle (GO:0031982)	glyceraldehyde-3-phosphate dehydrogenase (NAD+) (phosphorylating) activity (GO:0004365)|identical protein binding (GO:0042802)|microtubule binding (GO:0008017)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|peptidyl-cysteine S-nitrosylase activity (GO:0035605)			central_nervous_system(1)|cervix(1)|endometrium(1)|lung(4)	7						CAACTACATGGTGAGTGCTAC	0.522																																						ENST00000229239.5																			0				central_nervous_system(1)|cervix(1)|endometrium(1)|lung(4)	7						c.e3+1		glyceraldehyde-3-phosphate dehydrogenase	NADH(DB00157)						127	124	125					12																	6645760		2203	4300	6503	SO:0001630	splice_region_variant	2597				gluconeogenesis|glycolysis|neuron apoptosis|peptidyl-cysteine S-trans-nitrosylation|protein stabilization	cytosol|membrane|nucleus|perinuclear region of cytoplasm	glyceraldehyde-3-phosphate dehydrogenase (NAD+) (phosphorylating) activity|NAD binding|peptidyl-cysteine S-nitrosylase activity|protein binding	g.chr12:6645760G>A	AF261085	CCDS8549.1, CCDS58201.1	12p13.31	2012-10-02		2005-05-06	ENSG00000111640	ENSG00000111640	1.2.1.12		4141	protein-coding gene	gene with protein product		138400		GAPD		3170585	Standard	NM_002046		Approved		uc001qop.2	P04406	OTTHUMG00000137379	ENST00000229239.5:c.129+1G>A	12.37:g.6645760G>A						GAPDH_ENST00000396861.1_Splice_Site|GAPDH_ENST00000396858.1_Splice_Site|GAPDH_ENST00000396856.1_Splice_Site|GAPDH_ENST00000396859.1_Splice_Site		NM_002046.4	NP_002037.2	P04406	G3P_HUMAN			3	795	+								E7EUT4|P00354|Q53X65	Splice_Site	SNP	ENST00000229239.5	37		CCDS8549.1	.	.	.	.	.	.	.	.	.	.	G	27.9	4.873537	0.91664	.	.	ENSG00000111640	ENST00000229239;ENST00000450282;ENST00000396861;ENST00000396859;ENST00000396858	.	.	.	4.97	4.97	0.65823	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.229	0.89928	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	GAPDH	6516021	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	9.156000	0.94705	2.299000	0.77371	0.561000	0.74099	.		0.522	GAPDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268059.1	NM_002046	Intron	40	59	0	0	0	1	0	40	59					A	6645760	G	A	6645760	5	1	435	1	0	0	0	0	0	0	1	0	6236	1275	44	3	136	3	GAPDH	12	6645760	Splice_Site	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	19754	6645760	127206135	5535	26460											
IFFO1	25900	broad.mit.edu	37	chr12	6657293	6657293	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tttgaacagggactccgtatCtttaatcaccttctccaggc	9	13	7	12	1	3	1	1	1	2	0	5	2	4	2	3	2	1	1	3	2	3	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:6657293C>T	ENST00000396840.2	-	7	1422	c.1381G>A	c.(1381-1383)Gat>Aat	p.D461N	IFFO1_ENST00000336604.4_Missense_Mutation_p.D464N|IFFO1_ENST00000465801.1_Missense_Mutation_p.D157N|IFFO1_ENST00000436152.2_Missense_Mutation_p.D158N|IFFO1_ENST00000356896.4_Missense_Mutation_p.D465N			Q0D2I5	IFFO1_HUMAN	intermediate filament family orphan 1	461						intermediate filament (GO:0005882)				central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	20						GACTCCGTATCTTTAATCACC	0.572																																						ENST00000436152.2																			0				central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	20						c.(472-474)Gat>Aat		intermediate filament family orphan 1							162	175	171					12																	6657293		2203	4300	6503	SO:0001583	missense	25900					intermediate filament		g.chr12:6657293C>T	AF124432	CCDS8550.1, CCDS41741.1, CCDS8550.2, CCDS73425.1	12p13.31	2013-01-16	2008-09-11	2008-09-11	ENSG00000010295	ENSG00000010295		"Intermediate filament family orphans"	24970	protein-coding gene	gene with protein product		610495	"intermediate filament family orphan"	IFFO		8771189, 3052284	Standard	NM_001193457		Approved	HOM-TES-103	uc010sfe.2	Q0D2I5	OTTHUMG00000141264	ENST00000396840.2:c.1381G>A	12.37:g.6657293C>T	ENSP00000380052:p.Asp461Asn					IFFO1_ENST00000465801.1_Missense_Mutation_p.D157N|IFFO1_ENST00000336604.4_Missense_Mutation_p.D464N|IFFO1_ENST00000356896.4_Missense_Mutation_p.D465N|IFFO1_ENST00000396840.2_Missense_Mutation_p.D461N	p.D158N			Q0D2I5	IFFO1_HUMAN			9	1031	-			461					Q24JT6|Q7L5J9|Q7Z5X4|Q9BQ46	Missense_Mutation	SNP	ENST00000396840.2	37	c.472G>A		.	.	.	.	.	.	.	.	.	.	C	33	5.197621	0.94997	.	.	ENSG00000010295	ENST00000436152;ENST00000465801;ENST00000336604;ENST00000396840;ENST00000356896;ENST00000423501	T;T;T;T;T	0.16597	2.33;2.33;2.33;2.33;2.33	4.98	4.98	0.66077	.	0.000000	0.85682	D	0.000000	T	0.40743	0.1129	L	0.60455	1.87	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;0.995;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.87578	0.998;0.948;0.998;0.998;0.998;0.987	T	0.29212	-1.0019	10	0.87932	D	0	-12.1046	18.2455	0.89984	0.0:1.0:0.0:0.0	.	464;157;464;461;465;166	Q0D2I5-7;Q6P593;Q0D2I5-4;Q0D2I5;Q0D2I5-5;B4DQQ1	.;.;.;IFFO1_HUMAN;.;.	N	158;157;464;461;465;101	ENSP00000390721:D158N;ENSP00000436261:D157N;ENSP00000337593:D464N;ENSP00000380052:D461N;ENSP00000349364:D465N	ENSP00000337593:D464N	D	-	1	0	IFFO1	6527554	1.000000	0.71417	0.921000	0.36526	0.899000	0.52679	7.754000	0.85163	2.311000	0.77944	0.655000	0.94253	GAT		0.572	IFFO1-008	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000280428.1	NM_080730		63	109	0	0	0	1	0	63	109					T	6657293	C	T	6657293	3	4	435	1	0	0	0	0	1	0	0	0	7510	913	32	3	310	3	IFFO1	12	6657293	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	11533	6657293	127194602	5536	26461											
CHD4	1108	broad.mit.edu	37	chr12	6710187	6710187	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cttggcatcaggtacacgagGgctgcccttgggcttcctcc	5	10	12	14	1	1	0	1	0	0	0	3	1	3	0	3	4	2	4	3	4	1	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:6710187G>T	ENST00000357008.2	-	7	995	c.832C>A	c.(832-834)Cct>Act	p.P278T	CHD4_ENST00000544040.1_Missense_Mutation_p.P271T|CHD4_ENST00000544484.1_Missense_Mutation_p.P275T|CHD4_ENST00000309577.6_Missense_Mutation_p.P278T	NM_001273.2	NP_001264.2	Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	278					ATP-dependent chromatin remodeling (GO:0043044)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|spindle assembly (GO:0051225)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|NuRD complex (GO:0016581)|protein complex (GO:0043234)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|RNA polymerase II repressing transcription factor binding (GO:0001103)|zinc ion binding (GO:0008270)			central_nervous_system(2)	2						GGTACACGAGGGCTGCCCTTG	0.473																																					Colon(32;586 792 4568 16848 45314)	ENST00000309577.6																			0				central_nervous_system(2)	2						c.(832-834)Cct>Act		chromodomain helicase DNA binding protein 4							182	184	183					12																	6710187		2203	4300	6503	SO:0001583	missense	1108				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding	g.chr12:6710187G>T	X86691	CCDS8552.1	12p13	2013-01-28				ENSG00000111642		"Zinc fingers, PHD-type"	1919	protein-coding gene	gene with protein product		603277				7575689, 8843877	Standard	XM_006718958		Approved	Mi-2b, Mi2-BETA	uc001qpo.3	Q14839		ENST00000357008.2:c.832C>A	12.37:g.6710187G>T	ENSP00000349508:p.Pro278Thr					CHD4_ENST00000544484.1_Missense_Mutation_p.P275T|CHD4_ENST00000544040.1_Missense_Mutation_p.P271T|CHD4_ENST00000357008.2_Missense_Mutation_p.P278T	p.P278T			Q14839	CHD4_HUMAN			7	995	-			278					Q8IXZ5	Missense_Mutation	SNP	ENST00000357008.2	37	c.832C>A	CCDS8552.1	.	.	.	.	.	.	.	.	.	.	G	14.01	2.408943	0.42715	.	.	ENSG00000111642	ENST00000544484;ENST00000544040;ENST00000309577;ENST00000357008;ENST00000537464;ENST00000545942	D;D;D;D;T	0.90385	-2.63;-2.66;-2.64;-2.65;0.61	4.8	3.91	0.45181	.	0.000000	0.85682	D	0.000000	D	0.87354	0.6156	M	0.63428	1.95	0.42886	D	0.994183	P;B;B	0.38677	0.642;0.306;0.001	B;B;B	0.35278	0.199;0.169;0.003	D	0.87102	0.2179	10	0.41790	T	0.15	6.1616	12.1559	0.54077	0.0835:0.0:0.9165:0.0	.	278;278;271	Q14839-2;Q14839;F5GWX5	.;CHD4_HUMAN;.	T	275;271;278;278;252;278	ENSP00000440392:P275T;ENSP00000440542:P271T;ENSP00000312419:P278T;ENSP00000349508:P278T;ENSP00000437506:P278T	ENSP00000312419:P278T	P	-	1	0	CHD4	6580448	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.861000	0.62969	2.637000	0.89404	0.561000	0.74099	CCT		0.473	CHD4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001273		62	99	1	0	5.01655e-19	1	5.54669e-19	62	99					T	6710187	G	T	6710187	3	4	435	1	0	0	0	0	1	0	0	0	3327	1232	43	5	5042	5	CHD4	12	6710187	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	52894	6710187	127141708	5537	26462											
LPAR5	57121	broad.mit.edu	37	chr12	6730347	6730347	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtagaccaccaagtgcaggCggtgggtaggtcggtagtca	9	8	16	8	2	1	1	1	0	0	1	2	1	1	1	2	5	1	4	2	5	4	3	rs368795459		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:6730347C>T	ENST00000329858.4	-	2	824	c.68G>A	c.(67-69)cGc>cAc	p.R23H	LPAR5_ENST00000540335.1_5'UTR|LPAR5_ENST00000431922.1_Missense_Mutation_p.R23H	NM_020400.5	NP_065133.1	Q9H1C0	LPAR5_HUMAN	lysophosphatidic acid receptor 5	23						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			endometrium(2)|large_intestine(1)|lung(1)|ovary(1)|skin(2)	7						CAAGTGCAGGCGGTGGGTAGG	0.632																																					NSCLC(74;891 2312 37538)	ENST00000329858.4																			0				endometrium(2)|large_intestine(1)|lung(1)|ovary(1)|skin(2)	7						c.(67-69)cGc>cAc		lysophosphatidic acid receptor 5		C	HIS/ARG,HIS/ARG	0,4406		0,0,2203	122	104	110		68,68	-2.2	0.1	12		110	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	LPAR5	NM_020400.5,NM_001142961.1	29,29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign,benign	23/373,23/373	6730347	1,13005	2203	4300	6503	SO:0001583	missense	57121					integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	g.chr12:6730347C>T	AJ272207	CCDS8553.1	12p13.31	2012-08-08	2008-04-11	2008-04-11		ENSG00000184574		"GPCR / Class A : Lysophospholipid receptors : Lysophosphatidic acid"	13307	protein-coding gene	gene with protein product		606926	"G protein-coupled receptor 92"	GPR93, GPR92		11062477, 11574155, 16774927, 16651401	Standard	NM_020400		Approved	KPG_010, LPA5	uc009zer.2	Q9H1C0		ENST00000329858.4:c.68G>A	12.37:g.6730347C>T	ENSP00000327875:p.Arg23His					LPAR5_ENST00000431922.1_Missense_Mutation_p.R23H|LPAR5_ENST00000540335.1_5'UTR	p.R23H	NM_020400.5	NP_065133.1	Q9H1C0	LPAR5_HUMAN			2	824	-			23						Missense_Mutation	SNP	ENST00000329858.4	37	c.68G>A	CCDS8553.1	.	.	.	.	.	.	.	.	.	.	C	8.667	0.901874	0.17760	0.0	1.16E-4	ENSG00000184574	ENST00000329858;ENST00000431922;ENST00000435659	T;T	0.37235	1.21;1.21	5.16	-2.24	0.06909	.	0.882556	0.09751	N	0.760570	T	0.18467	0.0443	N	0.12182	0.205	0.19300	N	0.999972	B	0.10296	0.003	B	0.04013	0.001	T	0.31336	-0.9947	10	0.15499	T	0.54	.	11.7734	0.51972	0.0:0.3154:0.0:0.6846	.	23	Q9H1C0	LPAR5_HUMAN	H	23	ENSP00000327875:R23H;ENSP00000393098:R23H	ENSP00000327875:R23H	R	-	2	0	LPAR5	6600608	0.000000	0.05858	0.081000	0.20488	0.420000	0.31355	-1.985000	0.01485	-0.363000	0.08101	-0.258000	0.10820	CGC		0.632	LPAR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400699.1	NM_020400		3	6	0	0	0	1	0	3	6					T	6730347	C	T	6730347	3	4	435	1	0	0	0	0	1	0	0	0	8908	768	27	1	1054	1	LPAR5	12	6730347	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	20160	6730347	127121548	5538	26463											
ZNF384	171017	broad.mit.edu	37	chr12	6782571	6782571	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tggagtggatctgcatctccGacttggagtagaatgtcagt	9	12	13	7	1	3	1	1	0	2	1	4	5	3	4	1	3	1	2	1	3	2	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:6782571G>A	ENST00000396801.3	-	7	929	c.722C>T	c.(721-723)tCg>tTg	p.S241L	ZNF384_ENST00000361959.3_Missense_Mutation_p.S241L|ZNF384_ENST00000355772.4_Missense_Mutation_p.S186L|ZNF384_ENST00000319770.3_Missense_Mutation_p.S225L|RP4-761J14.8_ENST00000586338.1_RNA|ZNF384_ENST00000396795.1_Missense_Mutation_p.S241L|ZNF384_ENST00000396799.2_Missense_Mutation_p.S241L	NM_001135734.2	NP_001129206.1	Q8TF68	ZN384_HUMAN	zinc finger protein 384	241					nucleocytoplasmic transport (GO:0006913)|positive regulation of protein secretion (GO:0050714)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	focal adhesion (GO:0005925)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)		EWSR1/ZNF384(4)	breast(3)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(1)	18						CTGCATCTCCGACTTGGAGTA	0.567			T	"EWSR1, TAF15 "	ALL																																	ENST00000396795.1				Dom	yes		12	12p13	171017	T	zinc finger protein 384 (CIZ/NMP4)			L	"EWSR1, TAF15 "		ALL	EWSR1/ZNF384(4)	0				breast(3)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(1)	18						c.(721-723)tCg>tTg		zinc finger protein 384							204	130	155					12																	6782571		2203	4300	6503	SO:0001583	missense	0				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr12:6782571G>A	U80738	CCDS8557.1, CCDS31732.1, CCDS44817.1	12p12	2013-01-08	2002-05-23	2002-05-24		ENSG00000126746		"Zinc fingers, C2H2-type"	11955	protein-coding gene	gene with protein product		609951	"trinucleotide repeat containing 1"	TNRC1		9225980, 11149472	Standard	NM_001135734		Approved	CAGH1A, CIZ, NMP4, NP	uc010sfh.2	Q8TF68		ENST00000396801.3:c.722C>T	12.37:g.6782571G>A	ENSP00000380019:p.Ser241Leu					ZNF384_ENST00000396799.2_Missense_Mutation_p.S241L|ZNF384_ENST00000355772.4_Missense_Mutation_p.S186L|ZNF384_ENST00000396801.3_Missense_Mutation_p.S241L|ZNF384_ENST00000361959.3_Missense_Mutation_p.S241L|ZNF384_ENST00000319770.3_Missense_Mutation_p.S225L	p.S241L			Q8TF68	ZN384_HUMAN			6	1219	-			241					O15407|Q7Z722|Q8N938	Missense_Mutation	SNP	ENST00000396801.3	37	c.722C>T	CCDS44817.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.217771	0.79352	.	.	ENSG00000126746	ENST00000319770;ENST00000396795;ENST00000396801;ENST00000361959;ENST00000355772;ENST00000396799;ENST00000417772;ENST00000436774	T;T;T;T;T;T;T	0.30981	1.51;1.51;2.26;2.26;1.51;1.51;2.25	5.71	4.81	0.61882	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.53674	0.1811	M	0.70595	2.14	0.58432	D	0.999995	D;D;D;D;D	0.89917	1.0;0.999;0.999;0.999;0.999	D;D;D;D;D	0.85130	0.99;0.997;0.99;0.975;0.99	T	0.55970	-0.8056	10	0.87932	D	0	-6.982	13.4192	0.60987	0.0739:0.0:0.9261:0.0	.	241;272;186;225;241	Q8TF68;E9PHB3;Q8TF68-3;F8W6Q3;Q8TF68-2	ZN384_HUMAN;.;.;.;.	L	225;241;241;241;186;241;272;225	ENSP00000321650:S225L;ENSP00000380013:S241L;ENSP00000380019:S241L;ENSP00000354592:S241L;ENSP00000348018:S186L;ENSP00000380017:S241L;ENSP00000412911:S225L	ENSP00000321650:S225L	S	-	2	0	ZNF384	6652832	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.062000	0.89475	2.688000	0.91661	0.591000	0.81541	TCG		0.567	ZNF384-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400712.1			19	17	0	0	0	1	0	19	17					A	6782571	G	A	6782571	3	1	435	1	0	0	0	0	1	0	0	0	17872	1059	37	2	1031	2	ZNF384	12	6782571	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	52224	6782571	127069324	5539	26464											
LAG3	3902	broad.mit.edu	37	chr12	6886538	6886538	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gagctctctggacaccccatCccagaggagtttctcaggac	9	8	10	14	0	2	1	1	0	2	1	5	5	3	4	3	3	1	2	3	3	0	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:6886538C>T	ENST00000203629.2	+	6	1499	c.1166C>T	c.(1165-1167)tCc>tTc	p.S389F		NM_002286.5	NP_002277.4	P18627	LAG3_HUMAN	lymphocyte-activation gene 3	389	Ig-like C2-type 3.				cell surface receptor signaling pathway (GO:0007166)|negative regulation of interleukin-2 biosynthetic process (GO:0045085)|negative regulation of T cell activation (GO:0050868)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)	antigen binding (GO:0003823)|MHC class II protein binding (GO:0042289)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17						GACACCCCATCCCAGAGGAGT	0.572																																						ENST00000203629.2																			0				breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17						c.(1165-1167)tCc>tTc		lymphocyte-activation gene 3							116	108	111					12																	6886538		2203	4300	6503	SO:0001583	missense	3902					integral to membrane	antigen binding|MHC class II protein binding	g.chr12:6886538C>T		CCDS8561.1	12p13.3	2013-01-11			ENSG00000089692	ENSG00000089692		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6476	protein-coding gene	gene with protein product		153337					Standard	NM_002286		Approved	CD223	uc001qqt.4	P18627	OTTHUMG00000169197	ENST00000203629.2:c.1166C>T	12.37:g.6886538C>T	ENSP00000203629:p.Ser389Phe						p.S389F	NM_002286.5	NP_002277.4	P18627	LAG3_HUMAN			6	1499	+			389			Ig-like C2-type 3.		A8K7T9|Q7Z643	Missense_Mutation	SNP	ENST00000203629.2	37	c.1166C>T	CCDS8561.1	.	.	.	.	.	.	.	.	.	.	C	10.70	1.425186	0.25639	.	.	ENSG00000089692	ENST00000203629	T	0.13538	2.58	4.76	3.87	0.44632	.	0.326405	0.26773	N	0.022567	T	0.15089	0.0364	L	0.32530	0.975	0.09310	N	1	P	0.52316	0.952	P	0.49752	0.621	T	0.04635	-1.0937	10	0.87932	D	0	-12.0981	8.6879	0.34249	0.0:0.8961:0.0:0.1039	.	389	P18627	LAG3_HUMAN	F	389	ENSP00000203629:S389F	ENSP00000203629:S389F	S	+	2	0	LAG3	6756799	0.048000	0.20356	0.023000	0.16930	0.007000	0.05969	1.939000	0.40213	1.227000	0.43598	0.561000	0.74099	TCC		0.572	LAG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402846.1			12	51	0	0	0	1	0	12	51					T	6886538	C	T	6886538	3	4	435	1	0	0	0	0	1	0	0	0	8600	855	30	3	1188	3	LAG3	12	6886538	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	103967	6886538	126965357	5540	26465											
LAG3	3902	broad.mit.edu	37	chr12	6886984	6886984	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	acgctctgggagagccccagGtgccctcccagcaggccacc	7	4	12	18	1	1	1	0	0	1	1	2	2	2	1	6	3	3	2	6	3	0	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:6886984G>A	ENST00000203629.2	+	7	1661	c.1328G>A	c.(1327-1329)gGt>gAt	p.G443D		NM_002286.5	NP_002277.4	P18627	LAG3_HUMAN	lymphocyte-activation gene 3	443					cell surface receptor signaling pathway (GO:0007166)|negative regulation of interleukin-2 biosynthetic process (GO:0045085)|negative regulation of T cell activation (GO:0050868)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)	antigen binding (GO:0003823)|MHC class II protein binding (GO:0042289)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17						AGAGCCCCAGGTGCCCTCCCA	0.527																																						ENST00000203629.2																			0				breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17						c.(1327-1329)gGt>gAt		lymphocyte-activation gene 3							100	97	98					12																	6886984		2203	4300	6503	SO:0001583	missense	3902					integral to membrane	antigen binding|MHC class II protein binding	g.chr12:6886984G>A		CCDS8561.1	12p13.3	2013-01-11			ENSG00000089692	ENSG00000089692		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6476	protein-coding gene	gene with protein product		153337					Standard	NM_002286		Approved	CD223	uc001qqt.4	P18627	OTTHUMG00000169197	ENST00000203629.2:c.1328G>A	12.37:g.6886984G>A	ENSP00000203629:p.Gly443Asp						p.G443D	NM_002286.5	NP_002277.4	P18627	LAG3_HUMAN			7	1661	+			443					A8K7T9|Q7Z643	Missense_Mutation	SNP	ENST00000203629.2	37	c.1328G>A	CCDS8561.1	.	.	.	.	.	.	.	.	.	.	G	10.23	1.292038	0.23564	.	.	ENSG00000089692	ENST00000203629	T	0.12361	2.69	5.1	1.72	0.24424	.	0.693222	0.13750	N	0.365340	T	0.13670	0.0331	M	0.72118	2.19	0.09310	N	1	B	0.20368	0.044	B	0.17433	0.018	T	0.27502	-1.0072	10	0.42905	T	0.14	-1.2997	2.7045	0.05158	0.27:0.0:0.5084:0.2217	.	443	P18627	LAG3_HUMAN	D	443	ENSP00000203629:G443D	ENSP00000203629:G443D	G	+	2	0	LAG3	6757245	0.000000	0.05858	0.012000	0.15200	0.041000	0.13682	0.536000	0.23129	0.531000	0.28639	0.455000	0.32223	GGT		0.527	LAG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402846.1			15	34	0	0	0	1	0	15	34					A	6886984	G	A	6886984	3	1	435	1	0	0	0	0	1	0	0	0	8600	1261	44	3	1354	3	LAG3	12	6886984	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	446	6886984	126964911	5541	26466											
CD4	920	broad.mit.edu	37	chr12	6909344	6909344	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttaggcacttgcttctggtgCtgcaactgggtaagttctca	7	14	11	9	0	2	0	1	0	2	0	3	0	2	0	0	3	4	6	0	3	3	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:6909344C>A	ENST00000011653.4	+	2	298	c.40C>A	c.(40-42)Ctg>Atg	p.L14M	CD4_ENST00000538827.1_Intron|CD4_ENST00000541982.1_Missense_Mutation_p.L14M	NM_000616.4|NM_001195015.2|NM_001195016.2|NM_001195017.2	NP_000607.1|NP_001181944.1|NP_001181945.1|NP_001181946.1	P01730	CD4_HUMAN	CD4 molecule	14					cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|cytokine production (GO:0001816)|defense response to Gram-negative bacterium (GO:0050829)|entry into host cell (GO:0030260)|enzyme linked receptor protein signaling pathway (GO:0007167)|immune response (GO:0006955)|induction by virus of host cell-cell fusion (GO:0006948)|innate immune response (GO:0045087)|maintenance of protein location in cell (GO:0032507)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein kinase activity (GO:0045860)|protein palmitoleylation (GO:0045234)|regulation of defense response to virus by virus (GO:0050690)|regulation of T cell activation (GO:0050863)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)|T cell differentiation (GO:0030217)|T cell receptor signaling pathway (GO:0050852)|T cell selection (GO:0045058)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|viral process (GO:0016032)	early endosome (GO:0005769)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|T cell receptor complex (GO:0042101)	coreceptor activity (GO:0015026)|enzyme binding (GO:0019899)|extracellular matrix structural constituent (GO:0005201)|glycoprotein binding (GO:0001948)|MHC class II protein binding (GO:0042289)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)|zinc ion binding (GO:0008270)			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	23		Myeloproliferative disorder(1001;0.0122)			Antithymocyte globulin(DB00098)	GCTTCTGGTGCTGCAACTGGG	0.592																																						ENST00000011653.4																			0				breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	23						c.(40-42)Ctg>Atg		CD4 molecule							76	69	71					12																	6909344		2203	4300	6503	SO:0001583	missense	920				cell adhesion|entry into host cell|immune response|induction by virus of host cell-cell fusion|initiation of viral infection|maintenance of protein location in cell|positive regulation of interleukin-2 biosynthetic process|positive regulation of protein kinase activity|protein palmitoleylation|regulation of defense response to virus by virus|T cell costimulation|T cell receptor signaling pathway|T cell selection|transmembrane receptor protein tyrosine kinase signaling pathway	early endosome|endoplasmic reticulum membrane|integral to membrane|T cell receptor complex	coreceptor activity|extracellular matrix structural constituent|glycoprotein binding|MHC class II protein binding|protein homodimerization activity|protein kinase binding|transmembrane receptor activity|zinc ion binding	g.chr12:6909344C>A	M35160	CCDS8562.1	12p13.31	2013-01-11	2006-03-28		ENSG00000010610	ENSG00000010610		"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C2-set domain containing"	1678	protein-coding gene	gene with protein product		186940	"CD4 antigen (p55)", "T-cell surface glycoprotein CD4"				Standard	NM_000616		Approved		uc001qqv.2	P01730	OTTHUMG00000168514	ENST00000011653.4:c.40C>A	12.37:g.6909344C>A	ENSP00000011653:p.Leu14Met					CD4_ENST00000541982.1_Missense_Mutation_p.L14M|CD4_ENST00000538827.1_Intron	p.L14M	NM_000616.4|NM_001195015.2|NM_001195016.2|NM_001195017.2	NP_000607.1|NP_001181944.1|NP_001181945.1|NP_001181946.1	P01730	CD4_HUMAN			2	298	+		Myeloproliferative disorder(1001;0.0122)	14					B2R737|D3DUS5|Q4ZGK2|Q5U066|Q9UDE5	Missense_Mutation	SNP	ENST00000011653.4	37	c.40C>A	CCDS8562.1	.	.	.	.	.	.	.	.	.	.	C	17.82	3.484000	0.63962	.	.	ENSG00000010610	ENST00000011653;ENST00000541982;ENST00000539492	T;T	0.61742	0.81;0.08	4.0	4.0	0.46444	.	0.000000	0.45126	D	0.000400	T	0.72463	0.3463	M	0.71206	2.165	0.24638	N	0.993587	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.997	T	0.63941	-0.6523	10	0.72032	D	0.01	-0.4456	11.7954	0.52098	0.0:1.0:0.0:0.0	.	14;14	F5H480;P01730	.;CD4_HUMAN	M	14	ENSP00000011653:L14M;ENSP00000445167:L14M	ENSP00000011653:L14M	L	+	1	2	CD4	6779605	1.000000	0.71417	0.964000	0.40570	0.898000	0.52572	3.242000	0.51384	2.222000	0.72286	0.462000	0.41574	CTG		0.592	CD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399978.1	NM_000616		10	33	1	0	2.17888e-05	1	2.24846e-05	10	33					A	6909344	C	A	6909344	3	1	435	1	0	0	0	0	1	0	0	0	3014	796	28	5	42	5	CD4	12	6909344	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	22360	6909344	126942551	5542	26467											
GPR162	27239	broad.mit.edu	37	chr12	6935455	6935455	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gggagccgggaccccgcccaGgtgaagctgctgcctggaag	7	4	17	13	2	0	1	0	1	0	0	0	4	0	4	5	4	4	2	5	4	2	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:6935455G>T	ENST00000311268.3	+	4	1939	c.1152G>T	c.(1150-1152)caG>caT	p.Q384H	GPR162_ENST00000382315.3_Missense_Mutation_p.Q80H|LEPREL2_ENST00000251761.8_RNA|LEPREL2_ENST00000396725.2_RNA|LEPREL2_ENST00000606935.1_RNA|GPR162_ENST00000428545.2_Missense_Mutation_p.Q100H	NM_019858.1	NP_062832.1	Q16538	GP162_HUMAN	G protein-coupled receptor 162	384						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(2)|skin(1)	18						ACCCCGCCCAGGTGAAGCTGC	0.577											OREG0021636	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000311268.3																			0				NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(2)|skin(1)	18						c.(1150-1152)caG>caT		G protein-coupled receptor 162							51	52	52					12																	6935455		2203	4300	6503	SO:0001583	missense	27239					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr12:6935455G>T	U47928, U47929, U47924, U47925	CCDS8563.1, CCDS44819.1	12p13	2012-08-21						"GPCR / Class A : Orphans"	16693	protein-coding gene	gene with protein product						15777626	Standard	NM_014449		Approved	A-2, GRCA	uc001qqw.1	Q16538		ENST00000311268.3:c.1152G>T	12.37:g.6935455G>T	ENSP00000311528:p.Gln384His		OREG0021636	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	637	GPR162_ENST00000428545.2_Missense_Mutation_p.Q100H|GPR162_ENST00000382315.3_Missense_Mutation_p.Q80H	p.Q384H	NM_019858.1	NP_062832.1	Q16538	GP162_HUMAN			4	1939	+			384					Q16664|Q59EH5|Q66K56	Missense_Mutation	SNP	ENST00000311268.3	37	c.1152G>T	CCDS8563.1	.	.	.	.	.	.	.	.	.	.	G	17.20	3.329555	0.60743	.	.	ENSG00000250510	ENST00000311268;ENST00000428545;ENST00000382315	T;T;T	0.46063	3.04;0.88;0.88	4.87	1.5	0.22942	.	.	.	.	.	T	0.28466	0.0704	N	0.22421	0.69	0.25855	N	0.983898	P;P;B	0.43352	0.804;0.799;0.191	B;P;B	0.44990	0.362;0.466;0.135	T	0.12293	-1.0553	9	0.46703	T	0.11	.	2.0648	0.03600	0.2972:0.1354:0.4441:0.1233	.	168;100;384	Q13513;Q16538-2;Q16538	.;.;GP162_HUMAN	H	384;100;80	ENSP00000311528:Q384H;ENSP00000399670:Q100H;ENSP00000371752:Q80H	ENSP00000311528:Q384H	Q	+	3	2	GPR162	6805716	0.954000	0.32549	1.000000	0.80357	0.776000	0.43924	-0.225000	0.09151	0.435000	0.26365	0.491000	0.48974	CAG		0.577	GPR162-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399478.1	NM_019858		17	21	1	0	0.00400662	1	0.00405773	17	21					T	6935455	G	T	6935455	3	4	435	1	0	0	0	0	1	0	0	0	6666	991	35	5	1181	5	GPR162	12	6935455	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	26111	6935455	126916440	5543	26468											
LEPREL2	2784	broad.mit.edu	37	chr12	6948188	6948188	+	5'Flank	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggtgcgtcctcgctgtgggCgccttgtggccttcagctcc	1	11	15	14	3	1	0	1	0	0	0	4	0	3	0	4	3	2	2	4	3	0	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:6948188C>T	ENST00000229264.3	+	0	0				LEPREL2_ENST00000538102.1_RNA|LEPREL2_ENST00000251761.8_RNA|LEPREL2_ENST00000396725.2_RNA|LEPREL2_ENST00000606935.1_RNA|GNB3_ENST00000435982.2_5'Flank	NM_002075.2	NP_002066.1	P16520	GBB3_HUMAN	guanine nucleotide binding protein (G protein), beta polypeptide 3						cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|G-protein coupled receptor signaling pathway (GO:0007186)|GTP catabolic process (GO:0006184)|regulation of blood pressure (GO:0008217)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cell body (GO:0044297)|extracellular vesicular exosome (GO:0070062)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	GTPase activity (GO:0003924)|GTPase binding (GO:0051020)|signal transducer activity (GO:0004871)			cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)|stomach(1)	20						TCGCTGTGGGCGCCTTGTGGC	0.662																																						ENST00000251761.8																			0				breast(1)|cervix(1)|endometrium(2)|lung(6)	10								leprecan-like 2							35	40	39					12																	6948188		2068	4190	6258	SO:0001631	upstream_gene_variant	10536							g.chr12:6948188C>T		CCDS8564.1, CCDS73427.1	12p13	2013-01-10			ENSG00000111664	ENSG00000111664		"WD repeat domain containing"	4400	protein-coding gene	gene with protein product		139130				11770079, 16600389	Standard	XM_005253680		Approved		uc001qrd.3	P16520	OTTHUMG00000168517		12.37:g.6948188C>T	Exception_encountered					LEPREL2_ENST00000396725.2_RNA|LEPREL2_ENST00000606935.1_RNA		NM_014262.3	NP_055077.2					0	1963	+								Q96B71|Q9BQC0	RNA	SNP	ENST00000229264.3	37		CCDS8564.1	.	.	.	.	.	.	.	.	.	.	C	20.0	3.929817	0.73327	.	.	ENSG00000110811	ENST00000451242;ENST00000396725;ENST00000290510	T;T	0.63417	-0.04;-0.04	4.99	4.07	0.47477	Oxoglutarate/iron-dependent oxygenase (1);Prolyl 4-hydroxylase, alpha subunit (1);	0.111999	0.64402	D	0.000007	T	0.76842	0.4044	.	.	.	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.78237	-0.2282	9	0.87932	D	0	-4.2322	9.8149	0.40846	0.1987:0.675:0.1264:0.0	.	644	Q8IVL6	P3H3_HUMAN	C	71;643;459	ENSP00000379951:R643C;ENSP00000290510:R459C	ENSP00000290510:R459C	R	+	1	0	LEPREL2	6818449	1.000000	0.71417	0.967000	0.41034	0.748000	0.42578	4.711000	0.61881	1.049000	0.40321	0.561000	0.74099	CGC		0.662	GNB3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400006.1	NM_002075		6	26	0	0	0	1	0	6	26					T	6948188	C	T	6948188	1	4	435	0	1	0	0	0	0	0	0	0	8731	768	27	1		1	LEPREL2	12	6948188	5'Flank	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	12733	6948188	126903707	5544	26469											
GNB3	2784	broad.mit.edu	37	chr12	6954960	6954960	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gggactccatgaagtctgagCgtgtgggtaagggccagccc	8	7	16	10	1	1	2	0	2	1	0	2	3	2	3	3	3	2	1	3	3	2	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:6954960C>T	ENST00000229264.3	+	10	1315	c.910C>T	c.(910-912)Cgt>Tgt	p.R304C	CDCA3_ENST00000604599.1_5'UTR|CDCA3_ENST00000422785.3_3'UTR|GNB3_ENST00000435982.2_Missense_Mutation_p.R303C	NM_002075.2	NP_002066.1	P16520	GBB3_HUMAN	guanine nucleotide binding protein (G protein), beta polypeptide 3	304					cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|G-protein coupled receptor signaling pathway (GO:0007186)|GTP catabolic process (GO:0006184)|regulation of blood pressure (GO:0008217)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cell body (GO:0044297)|extracellular vesicular exosome (GO:0070062)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	GTPase activity (GO:0003924)|GTPase binding (GO:0051020)|signal transducer activity (GO:0004871)			cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)|stomach(1)	20						GAAGTCTGAGCGTGTGGGTAA	0.617																																						ENST00000229264.3																			0				cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)|stomach(1)	20						c.(910-912)Cgt>Tgt		guanine nucleotide binding protein (G protein), beta polypeptide 3							110	106	108					12																	6954960		2203	4300	6503	SO:0001583	missense	2784				cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|regulation of blood pressure|synaptic transmission	plasma membrane	GTPase activity|GTPase binding|signal transducer activity	g.chr12:6954960C>T		CCDS8564.1, CCDS73427.1	12p13	2013-01-10			ENSG00000111664	ENSG00000111664		"WD repeat domain containing"	4400	protein-coding gene	gene with protein product		139130				11770079, 16600389	Standard	XM_005253680		Approved		uc001qrd.3	P16520	OTTHUMG00000168517	ENST00000229264.3:c.910C>T	12.37:g.6954960C>T	ENSP00000229264:p.Arg304Cys					GNB3_ENST00000435982.2_Missense_Mutation_p.R303C|CDCA3_ENST00000422785.3_3'UTR|CDCA3_ENST00000604599.1_5'UTR	p.R304C	NM_002075.2	NP_002066.1	P16520	GBB3_HUMAN			10	1315	+			304					Q96B71|Q9BQC0	Missense_Mutation	SNP	ENST00000229264.3	37	c.910C>T	CCDS8564.1	.	.	.	.	.	.	.	.	.	.	C	10.15	1.272354	0.23221	.	.	ENSG00000111664	ENST00000229264;ENST00000435982;ENST00000537035	T;T;T	0.61274	0.49;0.49;0.12	4.81	3.92	0.45320	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.60301	0.2258	N	0.21448	0.665	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.74023	0.932;0.982	T	0.57159	-0.7859	10	0.27785	T	0.31	-21.3324	13.1607	0.59542	0.0:0.9229:0.0:0.0771	.	303;304	E9PCP0;P16520	.;GBB3_HUMAN	C	304;303;263	ENSP00000229264:R304C;ENSP00000414734:R303C;ENSP00000445967:R263C	ENSP00000229264:R304C	R	+	1	0	GNB3	6825221	1.000000	0.71417	0.997000	0.53966	0.009000	0.06853	5.844000	0.69430	1.245000	0.43885	-0.140000	0.14226	CGT		0.617	GNB3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400006.1	NM_002075		35	61	0	0	0	1	0	35	61					T	6954960	C	T	6954960	3	4	435	1	0	0	0	0	1	0	0	0	6519	768	27	1	940	1	GNB3	12	6954960	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	6772	6954960	126896935	5545	26470											
CDCA3	83461	broad.mit.edu	37	chr12	6958354	6958354	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ttttcacttaggggtgaaggCcgcttaccctgaaaacggca	10	10	11	10	2	1	2	1	2	0	0	1	2	1	2	2	4	2	2	2	4	5	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:6958354C>T	ENST00000538862.2	-	6	1561	c.660G>A	c.(658-660)cgG>cgA	p.R220R	USP5_ENST00000389231.5_5'Flank|CDCA3_ENST00000604599.1_5'Flank|CDCA3_ENST00000229265.6_Silent_p.R195R|CDCA3_ENST00000540683.1_3'UTR|CDCA3_ENST00000422785.3_Intron|USP5_ENST00000229268.8_5'Flank|CDCA3_ENST00000535406.1_Silent_p.R220R			Q99618	CDCA3_HUMAN	cell division cycle associated 3	220					mitotic nuclear division (GO:0007067)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)				breast(1)|endometrium(1)|large_intestine(4)|lung(1)|stomach(1)	8						GGGGTGAAGGCCGCTTACCCT	0.507																																						ENST00000538862.2																			0				breast(1)|endometrium(1)|large_intestine(4)|lung(1)|stomach(1)	8						c.(658-660)cgG>cgA		cell division cycle associated 3							81	71	74					12																	6958354		2203	4300	6503	SO:0001819	synonymous_variant	83461				cell division|mitosis	cytosol		g.chr12:6958354C>T	BG354576	CCDS8565.1, CCDS73428.1	12p13.31	2010-07-20				ENSG00000111665			14624	protein-coding gene	gene with protein product	"trigger of mitotic entry 1"	607749				9074930, 12188893	Standard	XR_242988		Approved	TOME-1, GRCC8	uc001qrg.2	Q99618		ENST00000538862.2:c.660G>A	12.37:g.6958354C>T						CDCA3_ENST00000535406.1_Silent_p.R220R|CDCA3_ENST00000229265.6_Silent_p.R195R|CDCA3_ENST00000540683.1_3'UTR|CDCA3_ENST00000422785.3_Intron	p.R220R			Q99618	CDCA3_HUMAN			6	1561	-			220					A8K5V6|D3DUS6	Silent	SNP	ENST00000538862.2	37	c.660G>A	CCDS8565.1																																																																																				0.507	CDCA3-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401940.2	NM_031299		8	19	0	0	0	1	0	8	19					T	6958354	C	T	6958354	2	4	435	1	0	0	0	0	0	0	0	1	3087	726	26	3		3	CDCA3	12	6958354	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	3394	6958354	126893541	5546	26471											
CDCA3	83461	broad.mit.edu	37	chr12	6958585	6958585	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtttggtttccatctattgcGcatagaacctggggtgggta	7	14	13	7	1	1	1	0	0	1	1	2	1	2	1	2	4	2	4	2	4	4	6	rs199554560		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:6958585G>A	ENST00000538862.2	-	5	1454	c.553C>T	c.(553-555)Cgc>Tgc	p.R185C	USP5_ENST00000389231.5_5'Flank|CDCA3_ENST00000604599.1_5'Flank|CDCA3_ENST00000229265.6_Missense_Mutation_p.R160C|CDCA3_ENST00000540683.1_Intron|CDCA3_ENST00000422785.3_Intron|USP5_ENST00000229268.8_5'Flank|CDCA3_ENST00000535406.1_Missense_Mutation_p.R185C			Q99618	CDCA3_HUMAN	cell division cycle associated 3	185					mitotic nuclear division (GO:0007067)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)				breast(1)|endometrium(1)|large_intestine(4)|lung(1)|stomach(1)	8						CATCTATTGCGCATAGAACCT	0.512													G|||	1	0.000199681	0	0	5008	,	,		-128	0.001		0	False		,,,				2504	0					ENST00000538862.2																			0				breast(1)|endometrium(1)|large_intestine(4)|lung(1)|stomach(1)	8						c.(553-555)Cgc>Tgc		cell division cycle associated 3							126	128	127					12																	6958585		2203	4300	6503	SO:0001583	missense	83461				cell division|mitosis	cytosol		g.chr12:6958585G>A	BG354576	CCDS8565.1, CCDS73428.1	12p13.31	2010-07-20				ENSG00000111665			14624	protein-coding gene	gene with protein product	"trigger of mitotic entry 1"	607749				9074930, 12188893	Standard	XR_242988		Approved	TOME-1, GRCC8	uc001qrg.2	Q99618		ENST00000538862.2:c.553C>T	12.37:g.6958585G>A	ENSP00000442068:p.Arg185Cys					CDCA3_ENST00000535406.1_Missense_Mutation_p.R185C|CDCA3_ENST00000229265.6_Missense_Mutation_p.R160C|CDCA3_ENST00000540683.1_Intron|CDCA3_ENST00000422785.3_Intron	p.R185C			Q99618	CDCA3_HUMAN			5	1454	-			185					A8K5V6|D3DUS6	Missense_Mutation	SNP	ENST00000538862.2	37	c.553C>T	CCDS8565.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	G	6.247	0.413691	0.11812	.	.	ENSG00000111665	ENST00000229265;ENST00000538862;ENST00000535406	.	.	.	5.1	-1.09	0.09904	.	1.354520	0.04376	N	0.359935	T	0.25419	0.0618	N	0.13043	0.29	0.09310	N	0.999999	B	0.10296	0.003	B	0.06405	0.002	T	0.23404	-1.0189	9	0.52906	T	0.07	-16.6511	4.9599	0.14061	0.3654:0.0:0.5033:0.1313	.	185	Q99618	CDCA3_HUMAN	C	160;185;185	.	ENSP00000229265:R160C	R	-	1	0	CDCA3	6828846	0.001000	0.12720	0.002000	0.10522	0.012000	0.07955	-0.393000	0.07305	-0.296000	0.08947	0.655000	0.94253	CGC		0.512	CDCA3-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401940.2	NM_031299		18	17	0	0	0	1	0	18	17					A	6958585	G	A	6958585	3	1	435	1	0	0	0	0	1	0	0	0	3087	1087	38	1	261	1	CDCA3	12	6958585	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	231	6958585	126893310	5547	26472											
USP5	8078	broad.mit.edu	37	chr12	6967709	6967709	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcctggctacacaggcatccGgaacctgggtaacagctgct	9	7	12	13	1	0	0	0	0	0	0	1	1	1	1	3	4	5	5	3	4	3	2	rs202049140		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:6967709G>A	ENST00000229268.8	+	8	1038	c.986G>A	c.(985-987)cGg>cAg	p.R329Q	USP5_ENST00000389231.5_Missense_Mutation_p.R329Q	NM_001098536.1	NP_001092006.1	P45974	UBP5_HUMAN	ubiquitin specific peptidase 5 (isopeptidase T)	329	USP.				positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|protein K48-linked deubiquitination (GO:0071108)|ubiquitin-dependent protein catabolic process (GO:0006511)	lysosome (GO:0005764)	cysteine-type endopeptidase activity (GO:0004197)|omega peptidase activity (GO:0008242)|ubiquitin thiolesterase activity (GO:0004221)|zinc ion binding (GO:0008270)			breast(6)|endometrium(4)|kidney(2)|large_intestine(6)|lung(14)|skin(2)|urinary_tract(2)	36						ACAGGCATCCGGAACCTGGGT	0.567																																						ENST00000229268.8																			0				breast(6)|endometrium(4)|kidney(2)|large_intestine(6)|lung(14)|skin(2)|urinary_tract(2)	36						c.(985-987)cGg>cAg		ubiquitin specific peptidase 5 (isopeptidase T)							111	88	95					12																	6967709		2203	4300	6503	SO:0001583	missense	0				positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process	lysosome	cysteine-type endopeptidase activity|omega peptidase activity|protein binding|ubiquitin thiolesterase activity|zinc ion binding	g.chr12:6967709G>A	U35116	CCDS31733.1, CCDS41743.1	12p13	2007-03-02	2005-08-08		ENSG00000111667	ENSG00000111667		"Ubiquitin-specific peptidases"	12628	protein-coding gene	gene with protein product		601447	"ubiquitin specific protease 5 (isopeptidase T)"			12838346, 8723724	Standard	NM_003481		Approved	IsoT	uc001qri.4	P45974	OTTHUMG00000169233	ENST00000229268.8:c.986G>A	12.37:g.6967709G>A	ENSP00000229268:p.Arg329Gln					USP5_ENST00000389231.5_Missense_Mutation_p.R329Q	p.R329Q	NM_001098536.1	NP_001092006.1	P45974	UBP5_HUMAN			8	1038	+			329					D3DUS7|D3DUS8|Q96J22	Missense_Mutation	SNP	ENST00000229268.8	37	c.986G>A	CCDS41743.1	.	.	.	.	.	.	.	.	.	.	G	9.474	1.096499	0.20552	.	.	ENSG00000111667	ENST00000229268;ENST00000389231	T;T	0.30714	1.52;1.52	5.65	1.84	0.25277	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2, conserved site (1);Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.408044	0.29424	N	0.012200	T	0.17492	0.0420	N	0.21617	0.685	0.33596	D	0.601718	B;B	0.30584	0.104;0.286	B;B	0.21917	0.037;0.024	T	0.19516	-1.0303	10	0.27082	T	0.32	-0.1116	11.2907	0.49247	0.3163:0.0:0.6837:0.0	.	329;329	P45974;P45974-2	UBP5_HUMAN;.	Q	329	ENSP00000229268:R329Q;ENSP00000373883:R329Q	ENSP00000229268:R329Q	R	+	2	0	USP5	6837970	1.000000	0.71417	0.993000	0.49108	0.208000	0.24298	1.419000	0.34793	-0.011000	0.14247	-0.797000	0.03246	CGG		0.567	USP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402982.1			8	15	0	0	0	1	0	8	15					A	6967709	G	A	6967709	3	1	435	1	0	0	0	0	1	0	0	0	17078	1116	39	2	1016	2	USP5	12	6967709	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	9124	6967709	126884186	5548	26473											
ENO2	2026	broad.mit.edu	37	chr12	7028840	7028840	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gtgatggcaaatatgacttgGacttcaagtctcccactgat	11	12	9	9	0	2	3	1	3	1	0	3	4	2	4	1	2	0	1	1	2	3	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:7028840G>A	ENST00000535366.1	+	7	1404	c.778G>A	c.(778-780)Gac>Aac	p.D260N	ENO2_ENST00000229277.1_Missense_Mutation_p.D260N|ENO2_ENST00000544774.1_Missense_Mutation_p.D217N|ENO2_ENST00000545045.2_Missense_Mutation_p.D141N|ENO2_ENST00000538763.1_Missense_Mutation_p.D217N|ENO2_ENST00000541477.1_Missense_Mutation_p.D260N			P09104	ENOG_HUMAN	enolase 2 (gamma, neuronal)	260					carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|perikaryon (GO:0043204)|phosphopyruvate hydratase complex (GO:0000015)|photoreceptor inner segment (GO:0001917)|plasma membrane (GO:0005886)	magnesium ion binding (GO:0000287)|phosphopyruvate hydratase activity (GO:0004634)			endometrium(3)|large_intestine(2)|lung(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10						ATATGACTTGGACTTCAAGTC	0.512																																						ENST00000535366.1																			0				endometrium(3)|large_intestine(2)|lung(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10						c.(778-780)Gac>Aac		enolase 2 (gamma, neuronal)							157	124	135					12																	7028840		2203	4300	6503	SO:0001583	missense	2026				gluconeogenesis|glycolysis	phosphopyruvate hydratase complex|plasma membrane	magnesium ion binding|phosphopyruvate hydratase activity	g.chr12:7028840G>A	M22349	CCDS8570.1	12p13	2012-10-02				ENSG00000111674	4.2.1.11		3353	protein-coding gene	gene with protein product		131360					Standard	NM_001975		Approved		uc001qru.1	P09104		ENST00000535366.1:c.778G>A	12.37:g.7028840G>A	ENSP00000437402:p.Asp260Asn					ENO2_ENST00000545045.2_Missense_Mutation_p.D141N|ENO2_ENST00000544774.1_Missense_Mutation_p.D217N|ENO2_ENST00000541477.1_Missense_Mutation_p.D260N|ENO2_ENST00000538763.1_Missense_Mutation_p.D217N|ENO2_ENST00000229277.1_Missense_Mutation_p.D260N	p.D260N			P09104	ENOG_HUMAN			7	1404	+			260					B7Z2X9|Q96J33	Missense_Mutation	SNP	ENST00000535366.1	37	c.778G>A	CCDS8570.1	.	.	.	.	.	.	.	.	.	.	g	34	5.320069	0.95682	.	.	ENSG00000111674	ENST00000541477;ENST00000229277;ENST00000538763;ENST00000544774;ENST00000535366;ENST00000545045	T;T;T;T;T;T	0.20463	2.07;2.07;2.07;2.07;2.07;2.07	5.23	5.23	0.72850	Enolase, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.48892	0.1525	M	0.88377	2.95	0.80722	D	1	P;P	0.46784	0.884;0.799	P;P	0.55011	0.766;0.762	T	0.52631	-0.8550	10	0.37606	T	0.19	-26.3509	18.8056	0.92035	0.0:0.0:1.0:0.0	.	217;260	B7Z2X9;P09104	.;ENOG_HUMAN	N	260;260;217;217;260;141	ENSP00000438873:D260N;ENSP00000229277:D260N;ENSP00000441490:D217N;ENSP00000446195:D217N;ENSP00000437402:D260N;ENSP00000438062:D141N	ENSP00000229277:D260N	D	+	1	0	ENO2	6899101	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.856000	0.99531	2.447000	0.82792	0.543000	0.68304	GAC		0.512	ENO2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401786.1			21	25	0	0	0	1	0	21	25					A	7028840	G	A	7028840	3	1	435	1	0	0	0	0	1	0	0	0	5122	1174	41	3	804	3	ENO2	12	7028840	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	61131	7028840	126823055	5549	26474											
C1RL	51279	broad.mit.edu	37	chr12	7254672	7254672	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aactggcttggatccgaaccGacgaatgagatctgaaagcg	13	7	12	9	4	1	2	0	2	1	1	2	7	2	3	2	2	3	1	2	2	4	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:7254672G>A	ENST00000266542.4	-	3	404	c.312C>T	c.(310-312)gtC>gtT	p.V104V	C1RL_ENST00000544702.1_Silent_p.V104V|C1RL_ENST00000545337.1_Silent_p.V104V|C1RL_ENST00000545280.1_Missense_Mutation_p.S28L	NM_016546.2	NP_057630.2	Q9NZP8	C1RL_HUMAN	complement component 1, r subcomponent-like	104	CUB. {ECO:0000255|PROSITE- ProRule:PRU00059}.				complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase activity (GO:0004252)			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						GATCCGAACCGACGAATGAGA	0.602																																						ENST00000545280.1																			0				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						c.(82-84)tCg>tTg		complement component 1, r subcomponent-like							87	90	89					12																	7254672		2203	4300	6503	SO:0001819	synonymous_variant	51279				complement activation, classical pathway|innate immune response|proteolysis		serine-type endopeptidase activity	g.chr12:7254672G>A	AF178985	CCDS8573.1, CCDS73431.1	12p13.31	2008-02-05				ENSG00000139178			21265	protein-coding gene	gene with protein product		608974				12838346	Standard	XM_005253385		Approved	C1r-LP, C1RL1	uc001qsn.3	Q9NZP8		ENST00000266542.4:c.312C>T	12.37:g.7254672G>A						C1RL_ENST00000545337.1_Silent_p.V104V|C1RL_ENST00000544702.1_Silent_p.V104V|C1RL_ENST00000266542.4_Silent_p.V104V	p.S28L			Q9NZP8	C1RL_HUMAN			2	99	-			0					Q53GX9	Missense_Mutation	SNP	ENST00000266542.4	37	c.83C>T	CCDS8573.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	6.489|6.489	0.458342|0.458342	0.12342|0.12342	.|.	.|.	ENSG00000139178|ENSG00000139178	ENST00000534950|ENST00000545280	.|.	.|.	.|.	3.76|3.76	-3.11|-3.11	0.05299|0.05299	.|.	.|.	.|.	.|.	.|.	T|T	0.20861|0.20861	0.0502|0.0502	.|.	.|.	.|.	0.09310|0.09310	N|N	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.28364|0.28364	-1.0046|-1.0046	4|4	.|.	.|.	.|.	.|.	4.233|4.233	0.10613|0.10613	0.5249:0.0:0.3172:0.1579|0.5249:0.0:0.3172:0.1579	.|.	.|.	.|.	.|.	W|L	4|28	.|.	.|.	R|S	-|-	1|2	2|0	C1RL|C1RL	7145948|7145948	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.000000|0.000000	0.00434|0.00434	-0.173000|-0.173000	0.09854|0.09854	-0.634000|-0.634000	0.05538|0.05538	-1.244000|-1.244000	0.01528|0.01528	CGG|TCG		0.602	C1RL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398367.1	NM_016546		25	52	0	0	0	1	0	25	52					A	7254672	G	A	7254672	2	1	435	1	0	0	0	0	0	0	0	1	1973	1045	37	2		2	C1RL	12	7254672	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	225832	7254672	126597223	5550	26475											
CLSTN3	9746	broad.mit.edu	37	chr12	7303555	7303555	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gcacagcatgaaccgggttgCccaccccagccacgtgctca	9	5	10	17	2	1	1	1	1	0	0	1	1	1	1	5	1	5	4	5	1	1	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:7303555C>T	ENST00000266546.6	+	16	2873	c.2423C>T	c.(2422-2424)gCc>gTc	p.A808V	CLSTN3_ENST00000537408.1_Missense_Mutation_p.A820V	NM_014718.3	NP_055533.2	Q9BQT9	CSTN3_HUMAN	calsyntenin 3	808					homophilic cell adhesion (GO:0007156)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)	calcium ion binding (GO:0005509)			NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(7)|prostate(1)|skin(1)	33						AACCGGGTTGCCCACCCCAGC	0.642																																						ENST00000537408.1																			0				NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(7)|prostate(1)|skin(1)	33						c.(2458-2460)gCc>gTc		calsyntenin 3							80	63	69					12																	7303555		2203	4300	6503	SO:0001583	missense	9746				homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding	g.chr12:7303555C>T	AB018269	CCDS8575.1	12p13.31	2011-07-01			ENSG00000139182	ENSG00000139182		"Cadherins / Cadherin-related"	18371	protein-coding gene	gene with protein product	"cadherin-related family member 14"	611324				12498782	Standard	NM_014718		Approved	CSTN3, KIAA0726, CDHR14	uc001qsr.3	Q9BQT9	OTTHUMG00000168167	ENST00000266546.6:c.2423C>T	12.37:g.7303555C>T	ENSP00000266546:p.Ala808Val					CLSTN3_ENST00000266546.6_Missense_Mutation_p.A808V	p.A820V			Q9BQT9	CSTN3_HUMAN			15	2997	+			808					D3DUT6|O94831|Q2T9J5|Q5UE57	Missense_Mutation	SNP	ENST00000266546.6	37	c.2459C>T	CCDS8575.1	.	.	.	.	.	.	.	.	.	.	C	16.75	3.209667	0.58343	.	.	ENSG00000139182	ENST00000266546;ENST00000537408	T;T	0.35973	1.28;1.28	5.39	5.39	0.77823	.	0.136093	0.51477	D	0.000082	T	0.28101	0.0693	N	0.22421	0.69	0.40211	D	0.977628	P;B	0.39480	0.675;0.08	B;B	0.37144	0.242;0.017	T	0.07986	-1.0744	10	0.41790	T	0.15	-22.4163	17.346	0.87309	0.0:1.0:0.0:0.0	.	820;808	Q5UE57;Q9BQT9	.;CSTN3_HUMAN	V	808;820	ENSP00000266546:A808V;ENSP00000440679:A820V	ENSP00000266546:A808V	A	+	2	0	CLSTN3	7194822	1.000000	0.71417	0.990000	0.47175	0.960000	0.62799	4.255000	0.58804	2.510000	0.84645	0.462000	0.41574	GCC		0.642	CLSTN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398560.2	NM_014718		9	13	0	0	0	1	0	9	13					T	7303555	C	T	7303555	3	4	435	1	0	0	0	0	1	0	0	0	3563	739	26	3	2485	3	CLSTN3	12	7303555	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	48883	7303555	126548340	5551	26476											
CD163L1	283316	broad.mit.edu	37	chr12	7526122	7526122	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tgcacacaatgcctgctatgGctgtggtgatgttcctcctg	6	13	11	11	0	0	1	0	1	0	0	2	1	2	1	3	2	3	4	3	2	2	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:7526122G>A	ENST00000313599.3	-	14	3581	c.3524C>T	c.(3523-3525)gCc>gTc	p.A1175V	CD163L1_ENST00000544331.1_5'Flank|CD163L1_ENST00000416109.2_Missense_Mutation_p.A1185V|CD163L1_ENST00000396630.1_Missense_Mutation_p.A1175V			Q9NR16	C163B_HUMAN	CD163 molecule-like 1	1175	SRCR 11. {ECO:0000255|PROSITE- ProRule:PRU00196}.					extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)			breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						GCCTGCTATGGCTGTGGTGAT	0.547																																						ENST00000313599.3																			0				breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						c.(3523-3525)gCc>gTc		CD163 molecule-like 1							155	145	148					12																	7526122		2203	4300	6503	SO:0001583	missense	283316					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity	g.chr12:7526122G>A	AF264014	CCDS8577.1, CCDS73434.1	12p13.31	2006-03-28	2006-03-28			ENSG00000177675			30375	protein-coding gene	gene with protein product		606079	"CD163 antigen-like 1"			11124526, 11086079	Standard	XM_005253348		Approved	M160, CD163B	uc001qsy.3	Q9NR16		ENST00000313599.3:c.3524C>T	12.37:g.7526122G>A	ENSP00000315945:p.Ala1175Val					CD163L1_ENST00000416109.2_Missense_Mutation_p.A1185V|CD163L1_ENST00000396630.1_Missense_Mutation_p.A1175V	p.A1175V			Q9NR16	C163B_HUMAN			14	3581	-			1175			SRCR 11.		B4E0G7|C9JHR7|E7EVK4|Q2M3B7|Q6UWC2	Missense_Mutation	SNP	ENST00000313599.3	37	c.3524C>T	CCDS8577.1	.	.	.	.	.	.	.	.	.	.	G	0.024	-1.392666	0.01185	.	.	ENSG00000177675	ENST00000313599;ENST00000416109;ENST00000396630	T;T;T	0.35789	1.29;1.29;1.29	2.28	-2.21	0.06973	Speract/scavenger receptor (2);Speract/scavenger receptor-related (2);	2.231910	0.04001	N	0.296502	T	0.19685	0.0473	N	0.13140	0.3	0.09310	N	1	B;B	0.19073	0.033;0.015	B;B	0.20577	0.017;0.03	T	0.12553	-1.0543	10	0.27082	T	0.32	.	3.7107	0.08418	0.3477:0.0:0.4806:0.1717	.	1185;1175	E7EVK4;Q9NR16	.;C163B_HUMAN	V	1175;1185;1175	ENSP00000315945:A1175V;ENSP00000393474:A1185V;ENSP00000379871:A1175V	ENSP00000315945:A1175V	A	-	2	0	CD163L1	7417389	0.000000	0.05858	0.000000	0.03702	0.043000	0.13939	-2.410000	0.01040	-0.609000	0.05724	-0.319000	0.08680	GCC		0.547	CD163L1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399329.1	NM_174941		58	82	0	0	0	1	0	58	82					A	7526122	G	A	7526122	3	1	435	1	0	0	0	0	1	0	0	0	2968	1203	42	3	861	3	CD163L1	12	7526122	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	222567	7526122	126325773	5552	26477											
CD163	9332	broad.mit.edu	37	chr12	7635315	7635315	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atggccaacagaacaaccccAaggatcccgactgcaataaa	17	4	7	13	1	0	1	0	0	0	1	1	3	1	2	4	2	4	1	4	2	7	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:7635315A>G	ENST00000359156.4	-	14	3373	c.3171T>C	c.(3169-3171)ctT>ctC	p.L1057L	CD163_ENST00000432237.2_Silent_p.L1057L|CD163_ENST00000541972.1_Silent_p.L1045L|CD163_ENST00000396620.3_Silent_p.L1090L|CD163_ENST00000539632.1_5'Flank	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN	CD163 molecule	1057					acute-phase response (GO:0006953)|receptor-mediated endocytosis (GO:0006898)	endocytic vesicle membrane (GO:0030666)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76					WF10(DB05389)	GAACAACCCCAAGGATCCCGA	0.418																																						ENST00000359156.4																			0				breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76						c.(3169-3171)ctT>ctC		CD163 molecule							122	126	124					12																	7635315		2203	4300	6503	SO:0001819	synonymous_variant	9332				acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity	g.chr12:7635315A>G	Z22968	CCDS8578.1, CCDS53742.1	12p13	2006-03-28	2006-03-28		ENSG00000177575	ENSG00000177575		"CD molecules"	1631	protein-coding gene	gene with protein product		605545	"CD163 antigen"			10403791, 8370408	Standard	NM_004244		Approved	M130, MM130	uc001qsz.3	Q86VB7	OTTHUMG00000168353	ENST00000359156.4:c.3171T>C	12.37:g.7635315A>G						CD163_ENST00000432237.2_Silent_p.L1057L|CD163_ENST00000541972.1_Silent_p.L1045L|CD163_ENST00000396620.3_Silent_p.L1090L	p.L1057L	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN			14	3373	-			1057					C9JIG2|Q07898|Q07899|Q07900|Q07901|Q2VLH7	Silent	SNP	ENST00000359156.4	37	c.3171T>C	CCDS8578.1	.	.	.	.	.	.	.	.	.	.	A	3.713	-0.059224	0.07317	.	.	ENSG00000177575	ENST00000537626	T	0.03745	3.82	3.68	-1.75	0.08031	.	1.141700	0.06764	N	0.782290	T	0.05318	0.0141	.	.	.	0.21020	N	0.9998	.	.	.	.	.	.	T	0.46205	-0.9208	7	0.72032	D	0.01	.	6.8857	0.24199	0.3044:0.5876:0.108:0.0	.	.	.	.	S	70	ENSP00000439226:L70S	ENSP00000439226:L70S	L	-	2	0	CD163	7526582	0.001000	0.12720	0.024000	0.17045	0.048000	0.14542	-0.895000	0.04118	-0.298000	0.08921	0.379000	0.24179	TTG		0.418	CD163-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000399396.2	NM_004244, NM_203416		34	46	0	0	0	1	0	34	46					G	7635315	A	G	7635315	2	3	435	1	0	0	0	0	0	0	0	1	2967	117	5	4		4	CD163	12	7635315	Silent	SNP	A	TCGA-XK-AAIW-01A-11D-A41K-08	109193	7635315	126216580	5553	26478											
CD163	9332	broad.mit.edu	37	chr12	7639505	7639505	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cttacctatgcaggccacagCactttcttctggaatggtag	9	12	9	11	0	2	0	0	0	2	0	2	1	2	1	2	3	3	3	2	3	4	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:7639505C>T	ENST00000359156.4	-	9	2330	c.2128G>A	c.(2128-2130)Gct>Act	p.A710T	CD163_ENST00000432237.2_Missense_Mutation_p.A710T|CD163_ENST00000541972.1_Missense_Mutation_p.A698T|CD163_ENST00000396620.3_Missense_Mutation_p.A743T|CD163_ENST00000539632.1_5'Flank	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN	CD163 molecule	710					acute-phase response (GO:0006953)|receptor-mediated endocytosis (GO:0006898)	endocytic vesicle membrane (GO:0030666)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76					WF10(DB05389)	CAGGCCACAGCACTTTCTTCT	0.418																																						ENST00000359156.4																			0				breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76						c.(2128-2130)Gct>Act		CD163 molecule							100	90	94					12																	7639505		2203	4300	6503	SO:0001583	missense	9332				acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity	g.chr12:7639505C>T	Z22968	CCDS8578.1, CCDS53742.1	12p13	2006-03-28	2006-03-28		ENSG00000177575	ENSG00000177575		"CD molecules"	1631	protein-coding gene	gene with protein product		605545	"CD163 antigen"			10403791, 8370408	Standard	NM_004244		Approved	M130, MM130	uc001qsz.3	Q86VB7	OTTHUMG00000168353	ENST00000359156.4:c.2128G>A	12.37:g.7639505C>T	ENSP00000352071:p.Ala710Thr					CD163_ENST00000432237.2_Missense_Mutation_p.A710T|CD163_ENST00000541972.1_Missense_Mutation_p.A698T|CD163_ENST00000396620.3_Missense_Mutation_p.A743T	p.A710T	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN			9	2330	-			710					C9JIG2|Q07898|Q07899|Q07900|Q07901|Q2VLH7	Missense_Mutation	SNP	ENST00000359156.4	37	c.2128G>A	CCDS8578.1	.	.	.	.	.	.	.	.	.	.	C	14.04	2.416932	0.42918	.	.	ENSG00000177575	ENST00000359156;ENST00000541972;ENST00000396620;ENST00000432237	T;T;T;T	0.01323	5.03;5.01;5.01;5.01	5.32	-0.338	0.12651	.	2.037390	0.01792	N	0.032361	T	0.01320	0.0043	L	0.38175	1.15	0.09310	N	1	P;B;P	0.41041	0.736;0.005;0.561	B;B;B	0.30646	0.118;0.012;0.079	T	0.48980	-0.8986	10	0.24483	T	0.36	.	4.9569	0.14046	0.4076:0.4272:0.0:0.1652	.	743;710;710	C9JHR8;Q86VB7-3;Q86VB7	.;.;C163A_HUMAN	T	710;698;743;710	ENSP00000352071:A710T;ENSP00000444071:A698T;ENSP00000379863:A743T;ENSP00000403885:A710T	ENSP00000352071:A710T	A	-	1	0	CD163	7530772	0.000000	0.05858	0.001000	0.08648	0.318000	0.28184	0.050000	0.14120	0.021000	0.15133	0.650000	0.86243	GCT		0.418	CD163-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000399396.2	NM_004244, NM_203416		27	53	0	0	0	1	0	27	53					T	7639505	C	T	7639505	3	4	435	1	0	0	0	0	1	0	0	0	2967	710	25	3	1374	3	CD163	12	7639505	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	4190	7639505	126212390	5554	26479											
APOBEC1	339	broad.mit.edu	37	chr12	7805382	7805382	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagacaggcctctttacgaaGttctctggggtcatagaaga	11	10	11	9	1	3	3	1	0	2	3	4	4	3	3	1	3	1	1	1	3	4	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:7805382G>T	ENST00000229304.4	-	3	114	c.94C>A	c.(94-96)Ctt>Att	p.L32I		NM_001644.3	NP_001635.2	P41238	ABEC1_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide 1	32					cellular response to insulin stimulus (GO:0032869)|cytidine deamination (GO:0009972)|cytidine to uridine editing (GO:0016554)|defense response to virus (GO:0051607)|DNA demethylation (GO:0080111)|gene expression (GO:0010467)|lipid metabolic process (GO:0006629)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein transport (GO:0042953)|mRNA modification (GO:0016556)|mRNA processing (GO:0006397)|mRNA stabilization (GO:0048255)|negative regulation of methylation-dependent chromatin silencing (GO:0090310)|regulation of cell proliferation (GO:0042127)|response to calcium ion (GO:0051592)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to gamma radiation (GO:0010332)|response to osmotic stress (GO:0006970)|response to zinc ion (GO:0010043)|RNA processing (GO:0006396)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	AU-rich element binding (GO:0017091)|cytidine deaminase activity (GO:0004126)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			kidney(2)|large_intestine(2)|lung(10)|prostate(1)|skin(1)|stomach(1)	17						TCTTTACGAAGTTCTCTGGGG	0.478																																					Pancreas(135;929 1826 4531 10527 41012)	ENST00000229304.4																			0				kidney(2)|large_intestine(2)|lung(10)|prostate(1)|skin(1)|stomach(1)	17						c.(94-96)Ctt>Att		apolipoprotein B mRNA editing enzyme, catalytic polypeptide 1							46	47	47					12																	7805382		2203	4298	6501	SO:0001583	missense	339				cytidine to uridine editing|DNA demethylation|lipid metabolic process|mRNA modification|mRNA processing|negative regulation of methylation-dependent chromatin silencing	nucleoplasm	cytidine deaminase activity|RNA binding|zinc ion binding	g.chr12:7805382G>T	U72891	CCDS8579.1	12p13.1	2007-02-01			ENSG00000111701	ENSG00000111701		"Apolipoprotein B mRNA editing enzymes"	604	protein-coding gene	gene with protein product		600130					Standard	XM_005253355		Approved	BEDP, CDAR1, APOBEC-1, HEPR	uc001qtb.3	P41238	OTTHUMG00000141288	ENST00000229304.4:c.94C>A	12.37:g.7805382G>T	ENSP00000229304:p.Leu32Ile						p.L32I	NM_001644.3	NP_001635.2	P41238	ABEC1_HUMAN			3	114	-			32					Q9UE64|Q9UM71	Missense_Mutation	SNP	ENST00000229304.4	37	c.94C>A	CCDS8579.1	.	.	.	.	.	.	.	.	.	.	G	11.89	1.772899	0.31411	.	.	ENSG00000111701	ENST00000229304	T	0.65732	-0.17	4.48	2.63	0.31362	APOBEC-like, N-terminal (1);	0.142736	0.32548	N	0.005949	T	0.64875	0.2638	M	0.75447	2.3	0.09310	N	1	P	0.46859	0.885	P	0.51324	0.666	T	0.54262	-0.8320	10	0.18710	T	0.47	-16.1424	7.195	0.25847	0.2118:0.0:0.7882:0.0	.	32	P41238	ABEC1_HUMAN	I	32	ENSP00000229304:L32I	ENSP00000229304:L32I	L	-	1	0	APOBEC1	7696649	0.042000	0.20092	0.011000	0.14972	0.240000	0.25518	1.647000	0.37260	0.453000	0.26858	0.462000	0.41574	CTT		0.478	APOBEC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280523.1	NM_001644		16	32	1	0	1.02788e-11	1	1.10723e-11	16	32					T	7805382	G	T	7805382	3	4	435	1	0	0	0	0	1	0	0	0	787	1029	36	5	628	5	APOBEC1	12	7805382	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	165877	7805382	126046513	5555	26480											
GDF3	9573	broad.mit.edu	37	chr12	7842906	7842906	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gagcatcttagtctggcacaGgtgtcttcaggctgaaaatt	10	12	11	8	0	4	1	1	1	3	0	4	2	4	1	0	3	1	3	0	3	3	3	rs145601141		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:7842906G>T	ENST00000329913.3	-	2	710	c.663C>A	c.(661-663)acC>acA	p.T221T		NM_020634.1	NP_065685.1	Q9NR23	GDF3_HUMAN	growth differentiation factor 3	221					endoderm development (GO:0007492)|eye development (GO:0001654)|formation of anatomical boundary (GO:0048859)|growth (GO:0040007)|in utero embryonic development (GO:0001701)|mesoderm development (GO:0007498)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of epidermal cell differentiation (GO:0045605)|notochord development (GO:0030903)|primitive streak formation (GO:0090009)|regulation of cell fate commitment (GO:0010453)|response to dietary excess (GO:0002021)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)|somite rostral/caudal axis specification (GO:0032525)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	protein kinase binding (GO:0019901)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	28						GTCTGGCACAGGTGTCTTCAG	0.507																																						ENST00000329913.3																			0				breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	28						c.(661-663)acC>acA		growth differentiation factor 3							93	90	91					12																	7842906		2203	4300	6503	SO:0001819	synonymous_variant	9573				eye development|growth|skeletal system development	extracellular space	cytokine activity|growth factor activity	g.chr12:7842906G>T	AF263538	CCDS8581.1	12p13.1	2014-01-30			ENSG00000184344	ENSG00000184344		"Endogenous ligands"	4218	protein-coding gene	gene with protein product		606522				9467948	Standard	NM_020634		Approved		uc001qte.3	Q9NR23	OTTHUMG00000168433	ENST00000329913.3:c.663C>A	12.37:g.7842906G>T							p.T221T	NM_020634.1	NP_065685.1	Q9NR23	GDF3_HUMAN			2	710	-			221					Q8NEJ4	Silent	SNP	ENST00000329913.3	37	c.663C>A	CCDS8581.1																																																																																				0.507	GDF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399717.1			14	43	1	0	1.5842e-08	1	1.67426e-08	14	43					T	7842906	G	T	7842906	2	4	435	1	0	0	0	0	0	0	0	1	6315	987	35	5		5	GDF3	12	7842906	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	37524	7842906	126008989	5556	26481											
CLEC4C	170482	broad.mit.edu	37	chr12	7894041	7894041	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatgtcctttccttccatgaCgcaggtcaggcttggatgat	7	14	10	10	1	1	2	1	2	0	0	4	3	4	3	3	3	0	2	3	3	1	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:7894041C>T	ENST00000542353.1	-	4	701	c.211G>A	c.(211-213)Gtc>Atc	p.V71I	CLEC4C_ENST00000360345.3_Missense_Mutation_p.V71I|CLEC4C_ENST00000354629.5_Missense_Mutation_p.V40I|CLEC4C_ENST00000540085.1_Missense_Mutation_p.V40I	NM_130441.2	NP_569708.1	Q8WTT0	CLC4C_HUMAN	C-type lectin domain family 4, member C	71					innate immune response (GO:0045087)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)	p.V71I(2)		autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25				Kidney(36;0.0915)		CCTTCCATGACGCAGGTCAGG	0.418																																						ENST00000542353.1																			2	Substitution - Missense(2)	p.V71I(2)	large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)	autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						c.(211-213)Gtc>Atc		C-type lectin domain family 4, member C							193	164	174					12																	7894041		2203	4300	6503	SO:0001583	missense	170482				innate immune response	integral to membrane	sugar binding	g.chr12:7894041C>T	AF325460	CCDS8583.1, CCDS8584.1	12p13.2-p12.3	2008-02-05	2004-02-13	2005-02-11	ENSG00000198178	ENSG00000198178		"C-type lectin domain containing", "CD molecules"	13258	protein-coding gene	gene with protein product		606677	"C-type (calcium dependent, carbohydrate-recognition domain) lectin, superfamily member 7"	CLECSF11, CLECSF7		11031109, 11536172	Standard	NM_130441		Approved	HECL, DLEC, BDCA2, CD303	uc001qth.1	Q8WTT0	OTTHUMG00000168441	ENST00000542353.1:c.211G>A	12.37:g.7894041C>T	ENSP00000440428:p.Val71Ile					CLEC4C_ENST00000354629.5_Missense_Mutation_p.V40I|CLEC4C_ENST00000360345.3_Missense_Mutation_p.V71I|CLEC4C_ENST00000540085.1_Missense_Mutation_p.V40I	p.V71I	NM_130441.2	NP_569708.1	Q8WTT0	CLC4C_HUMAN		Kidney(36;0.0915)	4	701	-			71					D3DUU3|Q3T1C3|Q6UXS8|Q8WXX8	Missense_Mutation	SNP	ENST00000542353.1	37	c.211G>A	CCDS8583.1	.	.	.	.	.	.	.	.	.	.	C	2.509	-0.313476	0.05422	.	.	ENSG00000198178	ENST00000542353;ENST00000354629;ENST00000540085;ENST00000360345	T;T;T;T	0.16743	2.32;2.32;2.32;2.32	1.79	-3.59	0.04583	.	.	.	.	.	T	0.04092	0.0114	N	0.04335	-0.225	0.09310	N	1	P;B	0.45126	0.851;0.342	B;B	0.30179	0.112;0.026	T	0.36696	-0.9737	9	0.22109	T	0.4	.	4.0105	0.09621	0.5588:0.2914:0.0:0.1498	.	40;71	Q8WTT0-2;Q8WTT0	.;CLC4C_HUMAN	I	71;40;40;71	ENSP00000440428:V71I;ENSP00000346648:V40I;ENSP00000445338:V40I;ENSP00000353500:V71I	ENSP00000346648:V40I	V	-	1	0	CLEC4C	7785308	0.000000	0.05858	0.000000	0.03702	0.238000	0.25445	-0.993000	0.03720	-1.359000	0.02174	0.514000	0.50259	GTC		0.418	CLEC4C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399750.1	NM_203503		22	48	0	0	0	1	0	22	48					T	7894041	C	T	7894041	3	4	435	1	0	0	0	0	1	0	0	0	3513	536	19	1	446	1	CLEC4C	12	7894041	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	51135	7894041	125957854	5557	26482											
C3AR1	719	broad.mit.edu	37	chr12	8211772	8211772	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccaccactagcctagtgatcGttattgccacgaggggtgtt	8	11	11	11	2	0	1	0	1	0	0	1	2	0	1	4	2	2	2	4	2	3	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:8211772G>A	ENST00000307637.4	-	2	1213	c.1010C>T	c.(1009-1011)aCg>aTg	p.T337M		NM_004054.2	NP_004045.1	Q16581	C3AR_HUMAN	complement component 3a receptor 1	337					blood circulation (GO:0008015)|chemotaxis (GO:0006935)|complement receptor mediated signaling pathway (GO:0002430)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|metabolic process (GO:0008152)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of macrophage chemotaxis (GO:0010759)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation vascular endothelial growth factor production (GO:0010575)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	C3a anaphylatoxin receptor activity (GO:0004943)|complement component C3a receptor activity (GO:0004876)|G-protein coupled receptor activity (GO:0004930)|phosphatidylinositol phospholipase C activity (GO:0004435)	p.T337M(1)		breast(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)	20				Kidney(36;0.0893)		CCTAGTGATCGTTATTGCCAC	0.488																																						ENST00000307637.4																			1	Substitution - Missense(1)	p.T337M(1)	large_intestine(1)	breast(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)	20						c.(1009-1011)aCg>aTg		complement component 3a receptor 1							153	142	146					12																	8211772		2203	4300	6503	SO:0001583	missense	719				blood circulation|chemotaxis|elevation of cytosolic calcium ion concentration|inflammatory response	integral to plasma membrane	C3a anaphylatoxin receptor activity|complement component C3a receptor activity|phosphatidylinositol phospholipase C activity	g.chr12:8211772G>A	U28488	CCDS8588.1	12p13.31	2012-08-10				ENSG00000171860		"Complement system", "GPCR / Class A : Complement component receptors"	1319	protein-coding gene	gene with protein product		605246				8605247	Standard	NM_004054		Approved	C3AR, AZ3B	uc001qtv.1	Q16581		ENST00000307637.4:c.1010C>T	12.37:g.8211772G>A	ENSP00000302079:p.Thr337Met						p.T337M	NM_004054.2	NP_004045.1	Q16581	C3AR_HUMAN		Kidney(36;0.0893)	2	1213	-			337					O43771|Q92868	Missense_Mutation	SNP	ENST00000307637.4	37	c.1010C>T	CCDS8588.1	.	.	.	.	.	.	.	.	.	.	G	16.68	3.189766	0.57909	.	.	ENSG00000171860	ENST00000307637	T	0.38240	1.15	5.79	4.9	0.64082	GPCR, rhodopsin-like superfamily (1);	0.262420	0.29892	N	0.010937	T	0.57460	0.2055	M	0.75777	2.31	0.20638	N	0.999876	D	0.76494	0.999	D	0.65773	0.938	T	0.54622	-0.8266	10	0.66056	D	0.02	.	12.855	0.57880	0.0786:0.0:0.9214:0.0	.	337	Q16581	C3AR_HUMAN	M	337	ENSP00000302079:T337M	ENSP00000302079:T337M	T	-	2	0	C3AR1	8103039	0.195000	0.23338	0.047000	0.18901	0.096000	0.18686	0.574000	0.23714	1.466000	0.48025	-0.137000	0.14449	ACG		0.488	C3AR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400254.1			26	44	0	0	0	1	0	26	44					A	8211772	G	A	8211772	3	1	435	1	0	0	0	0	1	0	0	0	2205	1145	40	1	442	1	C3AR1	12	8211772	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	317731	8211772	125640123	5558	26483											
AICDA	57379	broad.mit.edu	37	chr12	8757907	8757907	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcacagaagtagaggcgcgCggtgaagatcctcagactga	12	6	13	10	3	2	6	2	2	0	4	3	6	3	6	1	2	0	1	1	2	3	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:8757907C>T	ENST00000229335.6	-	3	434	c.331G>A	c.(331-333)Gcg>Acg	p.A111T	AICDA_ENST00000537228.1_Missense_Mutation_p.A111T	NM_020661.2	NP_065712.1	Q9GZX7	AICDA_HUMAN	activation-induced cytidine deaminase	111	Required for interaction with RNF126. {ECO:0000269|PubMed:23277564}.				B cell differentiation (GO:0030183)|cellular response to lipopolysaccharide (GO:0071222)|DNA demethylation (GO:0080111)|isotype switching (GO:0045190)|mRNA processing (GO:0006397)|negative regulation of methylation-dependent chromatin silencing (GO:0090310)|somatic diversification of immunoglobulins (GO:0016445)|somatic hypermutation of immunoglobulin genes (GO:0016446)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	cytidine deaminase activity (GO:0004126)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.A111T(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(4)|ovary(2)|pancreas(1)	16	Lung SC(5;0.184)					TAGAGGCGCGCGGTGAAGATC	0.637																																					GBM(62;896 1067 5527 26594 30137)	ENST00000229335.6																			1	Substitution - Missense(1)	p.A111T(1)	pancreas(1)	central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(4)|ovary(2)|pancreas(1)	16						c.(331-333)Gcg>Acg		activation-induced cytidine deaminase							31	34	33					12																	8757907		1989	4160	6149	SO:0001583	missense	57379				B cell differentiation|DNA demethylation|mRNA processing|negative regulation of methylation-dependent chromatin silencing	cytoplasm	cytidine deaminase activity|protein binding|zinc ion binding	g.chr12:8757907C>T	AB040430	CCDS41747.1	12p13	2014-09-17			ENSG00000111732	ENSG00000111732		"Apolipoprotein B mRNA editing enzymes"	13203	protein-coding gene	gene with protein product		605257					Standard	NM_020661		Approved	HIGM2, CDA2, ARP2, AID	uc001qur.2	Q9GZX7	OTTHUMG00000168676	ENST00000229335.6:c.331G>A	12.37:g.8757907C>T	ENSP00000229335:p.Ala111Thr					AICDA_ENST00000537228.1_Missense_Mutation_p.A111T	p.A111T	NM_020661.2	NP_065712.1	Q9GZX7	AICDA_HUMAN			3	434	-	Lung SC(5;0.184)		111					Q6QJ81|Q8NFC1	Missense_Mutation	SNP	ENST00000229335.6	37	c.331G>A	CCDS41747.1	.	.	.	.	.	.	.	.	.	.	C	28.4	4.914194	0.92178	.	.	ENSG00000111732	ENST00000229335;ENST00000537228	T;T	0.66280	-0.2;-0.2	5.45	5.45	0.79879	APOBEC-like, N-terminal (1);Cytidine deaminase-like (1);	0.049216	0.85682	D	0.000000	T	0.69655	0.3135	M	0.69185	2.1	0.54753	D	0.999987	D;D;D	0.56746	0.977;0.977;0.977	P;P;P	0.49252	0.604;0.604;0.604	T	0.74633	-0.3600	10	0.87932	D	0	-18.2239	17.8462	0.88731	0.0:1.0:0.0:0.0	.	111;111;111	Q9GZX7;Q6QJ80;Q6QJ81	AICDA_HUMAN;.;.	T	111	ENSP00000229335:A111T;ENSP00000445691:A111T	ENSP00000229335:A111T	A	-	1	0	AICDA	8649174	1.000000	0.71417	0.998000	0.56505	0.995000	0.86356	5.548000	0.67255	2.554000	0.86153	0.561000	0.74099	GCG		0.637	AICDA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000400575.1	NM_020661		12	17	0	0	0	1	0	12	17					T	8757907	C	T	8757907	3	4	435	1	0	0	0	0	1	0	0	0	422	768	27	1	277	1	AICDA	12	8757907	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	546135	8757907	125093988	5559	26484											
RIMKLB	57494	broad.mit.edu	37	chr12	8906616	8906616	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cgggatgtacgtgtcattgtCgtgggaggccgtgtggttgg	4	12	19	6	4	1	0	1	0	0	0	2	2	1	2	1	5	1	2	1	5	1	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:8906616C>T	ENST00000538135.1	+	5	1449	c.624C>T	c.(622-624)gtC>gtT	p.V208V	RIMKLB_ENST00000535829.1_Silent_p.V208V|RIMKLB_ENST00000299673.5_3'UTR|RIMKLB_ENST00000357529.3_Silent_p.V208V			Q9ULI2	RIMKB_HUMAN	ribosomal modification protein rimK-like family member B	208	ATP-grasp. {ECO:0000255|PROSITE- ProRule:PRU00409}.				cellular protein modification process (GO:0006464)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|citrate-L-glutamate ligase activity (GO:0072591)|metal ion binding (GO:0046872)|N-acetyl-L-aspartate-L-glutamate ligase activity (GO:0072590)			central_nervous_system(2)|kidney(3)|large_intestine(5)|lung(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						GTGTCATTGTCGTGGGAGGCC	0.443																																						ENST00000357529.3																			0				central_nervous_system(2)|kidney(3)|large_intestine(5)|lung(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						c.(622-624)gtC>gtT		ribosomal modification protein rimK-like family member B							190	172	178					12																	8906616		1948	4148	6096	SO:0001819	synonymous_variant	57494				protein modification process	cytoplasm	acid-amino acid ligase activity|ATP binding|metal ion binding	g.chr12:8906616C>T	AB033064	CCDS41748.1	12p13.31	2011-09-21	2008-10-13	2008-10-13	ENSG00000166532	ENSG00000166532	6.3.2.N6		29228	protein-coding gene	gene with protein product	"N-acetylaspartyl-glutamate synthetase"	614054	"family with sequence similarity 80, member B"	FAM80B		10574462, 20643647	Standard	XM_006719116		Approved	KIAA1238, NAAGS, NAAGS-I	uc001qux.2	Q9ULI2		ENST00000538135.1:c.624C>T	12.37:g.8906616C>T						RIMKLB_ENST00000535829.1_Silent_p.V208V|RIMKLB_ENST00000299673.5_3'UTR|RIMKLB_ENST00000538135.1_Silent_p.V208V	p.V208V	NM_020734.2	NP_065785.2	Q9ULI2	RIMKB_HUMAN			6	1886	+			208			ATP-grasp.		B7Z834|D3DUV2|Q8N4P4|Q8WTW6	Silent	SNP	ENST00000538135.1	37	c.624C>T	CCDS41748.1																																																																																				0.443	RIMKLB-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398874.1	NM_020734		34	52	0	0	0	1	0	34	52					T	8906616	C	T	8906616	2	4	435	1	0	0	0	0	0	0	0	1	13366	871	31	2		2	RIMKLB	12	8906616	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	148709	8906616	124945279	5560	26485											
A2ML1	144568	broad.mit.edu	37	chr12	9013508	9013508	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgatgaggtctccttgactgCgtatgtcacagctgcattgc	7	13	11	10	1	2	3	1	3	1	0	3	3	2	3	1	1	4	3	1	1	1	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:9013508C>T	ENST00000299698.7	+	27	3476	c.3296C>T	c.(3295-3297)gCg>gTg	p.A1099V	A2ML1_ENST00000539547.1_Missense_Mutation_p.A608V	NM_001282424.1|NM_144670.4	NP_001269353.1|NP_653271			alpha-2-macroglobulin-like 1											NS(2)|breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(2)|lung(36)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	80						TCCTTGACTGCGTATGTCACA	0.512											OREG0021663	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000299698.7																			0				NS(2)|breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(2)|lung(36)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	80						c.(3295-3297)gCg>gTg		alpha-2-macroglobulin-like 1							201	201	201					12																	9013508		2147	4262	6409	SO:0001583	missense	144568					extracellular space	endopeptidase inhibitor activity	g.chr12:9013508C>T	AK057908	CCDS8596.2, CCDS73439.1	12p13	2010-12-14	2005-09-01	2005-09-01	ENSG00000166535	ENSG00000166535			23336	protein-coding gene	gene with protein product		610627	"C3 and PZP-like, alpha-2-macroglobulin domain containing 9"	CPAMD9		16298998	Standard	NM_144670		Approved	FLJ25179	uc001quz.5	A8K2U0	OTTHUMG00000128499	ENST00000299698.7:c.3296C>T	12.37:g.9013508C>T	ENSP00000299698:p.Ala1099Val		OREG0021663	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	653	A2ML1_ENST00000539547.1_Missense_Mutation_p.A608V	p.A1099V	NM_144670.4	NP_653271.2	B3KVV6	B3KVV6_HUMAN			27	3476	+			943						Missense_Mutation	SNP	ENST00000299698.7	37	c.3296C>T	CCDS8596.2	.	.	.	.	.	.	.	.	.	.	C	16.31	3.087335	0.55968	.	.	ENSG00000166535	ENST00000299698;ENST00000539161;ENST00000541459;ENST00000539547	T;T;T	0.57595	0.39;0.39;0.39	4.0	4.0	0.46444	Terpenoid cylases/protein prenyltransferase alpha-alpha toroid (1);A-macroglobulin complement component (1);	0.000000	0.56097	D	0.000025	T	0.78817	0.4343	M	0.93808	3.46	0.44302	D	0.997176	D	0.89917	1.0	D	0.85130	0.997	D	0.85347	0.1099	10	0.87932	D	0	.	15.1895	0.73032	0.0:1.0:0.0:0.0	.	1099	A8K2U0	A2ML1_HUMAN	V	1099;1099;649;608	ENSP00000299698:A1099V;ENSP00000443174:A649V;ENSP00000438292:A608V	ENSP00000299698:A1099V	A	+	2	0	A2ML1	8904775	1.000000	0.71417	0.015000	0.15790	0.057000	0.15508	6.976000	0.76135	2.221000	0.72209	0.563000	0.77884	GCG		0.512	A2ML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250304.3	NM_144670		5	110	0	0	0	1	0	5	110					T	9013508	C	T	9013508	3	4	435	1	0	0	0	0	1	0	0	0	5	768	27	1	3402	1	A2ML1	12	9013508	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	106892	9013508	124838387	5561	26486											
M6PR	4074	broad.mit.edu	37	chr12	9095068	9095068	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggggaaactgctccattcCtttggctcccactaccagtc	7	11	9	14	0	0	0	0	0	0	0	4	1	3	1	4	3	3	2	4	3	2	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:9095068C>A	ENST00000000412.3	-	6	1123	c.655G>T	c.(655-657)Gga>Tga	p.G219*		NM_002355.3	NP_002346.1	P20645	MPRD_HUMAN	mannose-6-phosphate receptor (cation dependent)	219					endosome to lysosome transport (GO:0008333)|receptor-mediated endocytosis (GO:0006898)|signal transduction (GO:0007165)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)	mannose binding (GO:0005537)|mannose transmembrane transporter activity (GO:0015578)|transmembrane signaling receptor activity (GO:0004888)			cervix(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(1)	11		Hepatocellular(102;0.137)		BRCA - Breast invasive adenocarcinoma(232;0.0146)	Alglucosidase alfa(DB01272)	TGCTCCATTCCTTTGGCTCCC	0.478																																						ENST00000000412.3																			0				cervix(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(1)	11						c.(655-657)Gga>Tga		mannose-6-phosphate receptor (cation dependent)							136	119	125					12																	9095068		2203	4300	6503	SO:0001587	stop_gained	4074				endosome to lysosome transport|receptor-mediated endocytosis	cell surface|endosome|integral to plasma membrane|lysosomal membrane	mannose binding|mannose transmembrane transporter activity|transmembrane receptor activity	g.chr12:9095068C>A		CCDS8598.1, CCDS73440.1	12p13.31	2013-09-20			ENSG00000003056	ENSG00000003056			6752	protein-coding gene	gene with protein product		154540					Standard	NM_002355		Approved		uc001qvf.3	P20645	OTTHUMG00000168276	ENST00000000412.3:c.655G>T	12.37:g.9095068C>A	ENSP00000000412:p.Gly219*						p.G219*	NM_002355.3	NP_002346.1	P20645	MPRD_HUMAN		BRCA - Breast invasive adenocarcinoma(232;0.0146)	6	1123	-		Hepatocellular(102;0.137)	219					A8K528|D3DUV5	Nonsense_Mutation	SNP	ENST00000000412.3	37	c.655G>T	CCDS8598.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	32|32	5.143514|5.143514	0.94603|0.94603	.|.	.|.	ENSG00000003056|ENSG00000003056	ENST00000000412;ENST00000544193;ENST00000543704|ENST00000539143;ENST00000537621	.|.	.|.	.|.	5.75|5.75	5.75|5.75	0.90469|0.90469	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	.|T	.|0.81664	.|0.4870	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.82362	.|-0.0495	.|4	0.87932|0.59425	D|D	0|0.04	-20.6877|-20.6877	19.5549|19.5549	0.95342|0.95342	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	X|N	219;16;90|29;96	.|.	ENSP00000000412:G219X|ENSP00000444684:K96N	G|K	-|-	1|3	0|2	M6PR|M6PR	8986335|8986335	1.000000|1.000000	0.71417|0.71417	0.985000|0.985000	0.45067|0.45067	0.995000|0.995000	0.86356|0.86356	7.487000|7.487000	0.81328|0.81328	2.716000|2.716000	0.92895|0.92895	0.655000|0.655000	0.94253|0.94253	GGA|AAG		0.478	M6PR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399130.1			24	46	1	0	1.85244e-09	1	1.96811e-09	24	46					A	9095068	C	A	9095068	4	1	435	1	0	0	0	0	0	1	0	0	9140	690	24	5	186	5	M6PR	12	9095068	Nonsense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	81560	9095068	124756827	5562	26487											
A2M	2	broad.mit.edu	37	chr12	9229987	9229987	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agggcgatggtgatataggcGgagagggtcacttcatcttc	9	10	15	7	2	3	2	2	1	1	1	4	4	3	2	0	5	0	0	0	5	2	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:9229987G>A	ENST00000318602.7	-	27	3613	c.3306C>T	c.(3304-3306)tcC>tcT	p.S1102S	A2M_ENST00000542567.1_5'Flank	NM_000014.4	NP_000005	P01023	A2MG_HUMAN	alpha-2-macroglobulin	1102					blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of complement activation, lectin pathway (GO:0001869)|negative regulation of endopeptidase activity (GO:0010951)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|stem cell differentiation (GO:0048863)	blood microparticle (GO:0072562)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule lumen (GO:0031093)	calcium-dependent protein binding (GO:0048306)|enzyme binding (GO:0019899)|growth factor binding (GO:0019838)|interleukin-1 binding (GO:0019966)|interleukin-8 binding (GO:0019959)|protease binding (GO:0002020)|receptor binding (GO:0005102)|serine-type endopeptidase inhibitor activity (GO:0004867)|tumor necrosis factor binding (GO:0043120)			breast(1)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(17)|lung(30)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	77					Bacitracin(DB00626)|Becaplermin(DB00102)|Ocriplasmin(DB08888)	TGATATAGGCGGAGAGGGTCA	0.453																																						ENST00000318602.7																			0				breast(1)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(17)|lung(30)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	77						c.(3304-3306)tcC>tcT		alpha-2-macroglobulin	Bacitracin(DB00626)|Becaplermin(DB00102)						98	101	100					12																	9229987		2193	4300	6493	SO:0001819	synonymous_variant	2				blood coagulation, intrinsic pathway|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|extracellular space|platelet alpha granule lumen	enzyme binding|GTPase activator activity|interleukin-1 binding|interleukin-8 binding|serine-type endopeptidase inhibitor activity|tumor necrosis factor binding	g.chr12:9229987G>A	BX647329, X68728, M11313	CCDS44827.1	12p13.31	2010-02-24			ENSG00000175899	ENSG00000175899			7	protein-coding gene	gene with protein product		103950					Standard	XM_006719056		Approved	FWP007, S863-7, CPAMD5	uc001qvk.1	P01023	OTTHUMG00000150267	ENST00000318602.7:c.3306C>T	12.37:g.9229987G>A							p.S1102S	NM_000014.4	NP_000005.2	P01023	A2MG_HUMAN			27	3613	-			1102					Q13677|Q59F47|Q5QTS0|Q68DN2|Q6PIY3|Q6PN97	Silent	SNP	ENST00000318602.7	37	c.3306C>T	CCDS44827.1																																																																																				0.453	A2M-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317233.2	NM_000014		10	12	0	0	0	1	0	10	12					A	9229987	G	A	9229987	2	1	435	1	0	0	0	0	0	0	0	1	4	1103	39	2		2	A2M	12	9229987	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	134919	9229987	124621908	5563	26488											
A2M	2	broad.mit.edu	37	chr12	9246171	9246171	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggcctcttcccattacatcTgactctatggtgagtgagga	8	13	10	10	0	3	3	0	3	3	0	4	4	4	4	2	3	1	0	2	3	2	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:9246171T>C	ENST00000318602.7	-	18	2437	c.2130A>G	c.(2128-2130)tcA>tcG	p.S710S		NM_000014.4	NP_000005	P01023	A2MG_HUMAN	alpha-2-macroglobulin	710	Bait region.				blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of complement activation, lectin pathway (GO:0001869)|negative regulation of endopeptidase activity (GO:0010951)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|stem cell differentiation (GO:0048863)	blood microparticle (GO:0072562)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule lumen (GO:0031093)	calcium-dependent protein binding (GO:0048306)|enzyme binding (GO:0019899)|growth factor binding (GO:0019838)|interleukin-1 binding (GO:0019966)|interleukin-8 binding (GO:0019959)|protease binding (GO:0002020)|receptor binding (GO:0005102)|serine-type endopeptidase inhibitor activity (GO:0004867)|tumor necrosis factor binding (GO:0043120)	p.S710S(1)		breast(1)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(17)|lung(30)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	77					Bacitracin(DB00626)|Becaplermin(DB00102)|Ocriplasmin(DB08888)	CCATTACATCTGACTCTATGG	0.418																																						ENST00000318602.7																			1	Substitution - coding silent(1)	p.S710S(1)	large_intestine(1)	breast(1)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(17)|lung(30)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	77						c.(2128-2130)tcA>tcG		alpha-2-macroglobulin	Bacitracin(DB00626)|Becaplermin(DB00102)						68	62	64					12																	9246171		1894	4118	6012	SO:0001819	synonymous_variant	2				blood coagulation, intrinsic pathway|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|extracellular space|platelet alpha granule lumen	enzyme binding|GTPase activator activity|interleukin-1 binding|interleukin-8 binding|serine-type endopeptidase inhibitor activity|tumor necrosis factor binding	g.chr12:9246171T>C	BX647329, X68728, M11313	CCDS44827.1	12p13.31	2010-02-24			ENSG00000175899	ENSG00000175899			7	protein-coding gene	gene with protein product		103950					Standard	XM_006719056		Approved	FWP007, S863-7, CPAMD5	uc001qvk.1	P01023	OTTHUMG00000150267	ENST00000318602.7:c.2130A>G	12.37:g.9246171T>C							p.S710S	NM_000014.4	NP_000005.2	P01023	A2MG_HUMAN			18	2437	-			710			Bait region.		Q13677|Q59F47|Q5QTS0|Q68DN2|Q6PIY3|Q6PN97	Silent	SNP	ENST00000318602.7	37	c.2130A>G	CCDS44827.1																																																																																				0.418	A2M-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317233.2	NM_000014		12	18	0	0	0	1	0	12	18					C	9246171	T	C	9246171	2	2	435	1	0	0	0	0	0	0	0	1	4	1567	55	4		4	A2M	12	9246171	Silent	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	16184	9246171	124605724	5564	26489											
CLEC1B	51266	broad.mit.edu	37	chr12	10149866	10149866	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tctcaccttgtaggtaattgCgctgcatgacagctaggttt	8	14	10	9	1	1	1	1	1	1	0	2	1	1	1	1	2	3	6	1	2	3	6			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:10149866C>T	ENST00000298527.6	-	3	355	c.176G>A	c.(175-177)cGc>cAc	p.R59H	CLEC1B_ENST00000428126.2_Missense_Mutation_p.R26H|CLEC1B_ENST00000348658.4_Missense_Mutation_p.R26H	NM_016509.3	NP_057593.3	Q9P126	CLC1B_HUMAN	C-type lectin domain family 1, member B	59					cell surface receptor signaling pathway (GO:0007166)|defense response (GO:0006952)|platelet formation (GO:0030220)	integral component of plasma membrane (GO:0005887)	carbohydrate binding (GO:0030246)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(1)|central_nervous_system(1)|large_intestine(2)|lung(12)|stomach(1)|urinary_tract(1)	19						TAGGTAATTGCGCTGCATGAC	0.348																																						ENST00000428126.2																			0				NS(1)|breast(1)|central_nervous_system(1)|large_intestine(2)|lung(12)|stomach(1)|urinary_tract(1)	19						c.(76-78)cGc>cAc		C-type lectin domain family 1, member B							94	81	85					12																	10149866		1819	4088	5907	SO:0001583	missense	51266				cell surface receptor linked signaling pathway|defense response	integral to plasma membrane	protein binding|sugar binding|transmembrane receptor activity	g.chr12:10149866C>T	AF124841	CCDS41751.1, CCDS41752.1	12p13.31	2006-04-12				ENSG00000165682		"C-type lectin domain containing"	24356	protein-coding gene	gene with protein product		606783				10671229, 11745369	Standard	NM_016509		Approved	CLEC2	uc001qwu.3	Q9P126		ENST00000298527.6:c.176G>A	12.37:g.10149866C>T	ENSP00000298527:p.Arg59His					CLEC1B_ENST00000298527.6_Missense_Mutation_p.R59H|CLEC1B_ENST00000348658.4_Missense_Mutation_p.R26H	p.R26H			Q9P126	CLC1B_HUMAN			4	346	-			59					Q6UWX7|Q8NHR6	Missense_Mutation	SNP	ENST00000298527.6	37	c.77G>A	CCDS41752.1	.	.	.	.	.	.	.	.	.	.	T	1.416	-0.574131	0.03882	.	.	ENSG00000165682	ENST00000428126;ENST00000298527;ENST00000348658	T;T;T	0.01474	4.85;4.98;4.85	4.04	1.63	0.23807	C-type lectin-like (1);	0.369617	0.23364	N	0.048994	T	0.00815	0.0027	N	0.02539	-0.55	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.49263	-0.8958	9	.	.	.	.	7.2544	0.26168	0.0:0.2203:0.0:0.7797	.	26;59	Q9P126-2;Q9P126	.;CLC1B_HUMAN	H	26;59;26	ENSP00000406338:R26H;ENSP00000298527:R59H;ENSP00000327169:R26H	.	R	-	2	0	CLEC1B	10041133	0.072000	0.21174	0.114000	0.21550	0.013000	0.08279	0.133000	0.15912	-0.127000	0.11661	-1.853000	0.00566	CGC		0.348	CLEC1B-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399922.1	NM_016509		5	23	0	0	0	1	0	5	23					T	10149866	C	T	10149866	3	4	435	1	0	0	0	0	1	0	0	0	3506	768	27	1	529	1	CLEC1B	12	10149866	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	903695	10149866	123702029	5565	26490											
CLEC9A	283420	broad.mit.edu	37	chr12	10205327	10205327	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacctctcttcagtgggataGcccagcaccagacacttacc	10	8	7	16	0	2	1	1	0	1	1	3	2	2	2	4	1	3	1	4	1	2	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:10205327G>A	ENST00000355819.1	+	4	654	c.41G>A	c.(40-42)aGc>aAc	p.S14N	CLEC9A_ENST00000544751.1_3'UTR	NM_207345.2	NP_997228.1	Q6UXN8	CLC9A_HUMAN	C-type lectin domain family 9, member A	14					positive regulation of cytokine secretion (GO:0050715)|receptor-mediated endocytosis (GO:0006898)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|urinary_tract(1)	22						CAGTGGGATAGCCCAGCACCA	0.423																																						ENST00000355819.1																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|urinary_tract(1)	22						c.(40-42)aGc>aAc		C-type lectin domain family 9, member A							121	111	114					12																	10205327		2203	4300	6503	SO:0001583	missense	283420				positive regulation of cytokine secretion|receptor-mediated endocytosis	cell surface|integral to membrane	receptor activity|sugar binding	g.chr12:10205327G>A		CCDS8611.1	12p13.31	2010-04-27				ENSG00000197992		"C-type lectin domain containing"	26705	protein-coding gene	gene with protein product		612252					Standard	NM_207345		Approved	UNQ9341, HEEE9341	uc001qxa.3	Q6UXN8		ENST00000355819.1:c.41G>A	12.37:g.10205327G>A	ENSP00000348074:p.Ser14Asn					CLEC9A_ENST00000544751.1_3'UTR	p.S14N	NM_207345.2	NP_997228.1	Q6UXN8	CLC9A_HUMAN			4	654	+			14					B0ZBM2	Missense_Mutation	SNP	ENST00000355819.1	37	c.41G>A	CCDS8611.1	.	.	.	.	.	.	.	.	.	.	G	1.805	-0.476208	0.04414	.	.	ENSG00000197992	ENST00000355819	T	0.01414	4.92	4.2	-6.07	0.02158	.	1.456910	0.04526	N	0.385563	T	0.00875	0.0029	N	0.16478	0.41	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.48747	-0.9008	10	0.15952	T	0.53	.	2.5408	0.04725	0.1967:0.2894:0.3805:0.1334	.	14	Q6UXN8	CLC9A_HUMAN	N	14	ENSP00000348074:S14N	ENSP00000348074:S14N	S	+	2	0	CLEC9A	10096594	0.000000	0.05858	0.000000	0.03702	0.074000	0.17049	-0.770000	0.04705	-1.277000	0.02411	-0.302000	0.09304	AGC		0.423	CLEC9A-001	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000399564.1	NM_207345		22	26	0	0	0	1	0	22	26					A	10205327	G	A	10205327	3	1	435	1	0	0	0	0	1	0	0	0	3522	971	34	3	43	3	CLEC9A	12	10205327	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	55461	10205327	123646568	5566	26491											
KLRC1	3821	broad.mit.edu	37	chr12	10603748	10603748	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctgagtagattactccttggTtatccatctctgcagtgtgt	7	16	9	9	0	1	2	0	1	1	1	4	2	3	2	2	1	2	3	2	1	3	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:10603748T>C	ENST00000359151.3	-	2	189	c.8A>G	c.(7-9)aAc>aGc	p.N3S	KLRC1_ENST00000536188.1_Missense_Mutation_p.N3S|KLRC1_ENST00000347831.5_Missense_Mutation_p.N3S|KLRC1_ENST00000544822.1_Missense_Mutation_p.N3S|KLRC1_ENST00000408006.3_Missense_Mutation_p.N3S	NM_002259.4	NP_002250	P26715	NKG2A_HUMAN	killer cell lectin-like receptor subfamily C, member 1	3					cell surface receptor signaling pathway (GO:0007166)|regulation of immune response (GO:0050776)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|skin(1)	16						TACTCCTTGGTTATCCATCTC	0.393																																						ENST00000544822.1																			0				NS(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|skin(1)	16						c.(7-9)aAc>aGc		killer cell lectin-like receptor subfamily C, member 1							88	79	82					12																	10603748		2203	4300	6503	SO:0001583	missense	3821				cell surface receptor linked signaling pathway|regulation of immune response	integral to plasma membrane	sugar binding|transmembrane receptor activity	g.chr12:10603748T>C	U54782	CCDS8625.1, CCDS8626.1	12p13	2010-06-30			ENSG00000134545	ENSG00000134545		"Killer cell lectin-like receptors", "CD molecules"	6374	protein-coding gene	gene with protein product	"NKG2-1/B activating NK receptor"	161555		NKG2		9598306	Standard	NM_002259		Approved	NKG2-A, NKG2-B, CD159a	uc001qyl.3	P26715		ENST00000359151.3:c.8A>G	12.37:g.10603748T>C	ENSP00000352064:p.Asn3Ser					KLRC1_ENST00000408006.3_Missense_Mutation_p.N3S|KLRC1_ENST00000347831.5_Missense_Mutation_p.N3S|KLRC1_ENST00000536188.1_Missense_Mutation_p.N3S|KLRC1_ENST00000359151.3_Missense_Mutation_p.N3S	p.N3S	NM_213658.2	NP_998823.1	P26715	NKG2A_HUMAN			3	395	-			3						Missense_Mutation	SNP	ENST00000359151.3	37	c.8A>G	CCDS8625.1	.	.	.	.	.	.	.	.	.	.	T	5.877	0.345971	0.11126	.	.	ENSG00000134545	ENST00000536188;ENST00000359151;ENST00000408006;ENST00000347831;ENST00000544822	T;T;T;T;T	0.05447	3.44;3.44;3.44;3.44;3.44	3.96	0.257	0.15574	.	0.347182	0.25025	N	0.033725	T	0.08268	0.0206	M	0.66439	2.03	0.09310	N	1	P;B	0.35383	0.498;0.002	B;B	0.41236	0.351;0.006	T	0.19160	-1.0314	10	0.62326	D	0.03	.	2.3338	0.04242	0.2129:0.2381:0.0:0.549	.	3;3	P26715-2;P26715	.;NKG2A_HUMAN	S	3	ENSP00000441432:N3S;ENSP00000352064:N3S;ENSP00000385304:N3S;ENSP00000256965:N3S;ENSP00000438038:N3S	ENSP00000256965:N3S	N	-	2	0	KLRC1	10495015	0.001000	0.12720	0.100000	0.21137	0.015000	0.08874	0.285000	0.18883	0.161000	0.19458	-0.250000	0.11733	AAC		0.393	KLRC1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000400115.1	NM_002259		11	19	0	0	0	1	0	11	19					C	10603748	T	C	10603748	3	2	435	1	0	0	0	0	1	0	0	0	8415	1725	60	4	717	4	KLRC1	12	10603748	Missense_Mutation	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	398421	10603748	123248147	5567	26492											
CSDA	8531	broad.mit.edu	37	chr12	10865863	10865863	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gccacgtctgtaacggcgccGatctgcagcgtaacgactcc	8	7	11	15	6	2	0	0	0	2	0	3	2	3	0	3	1	4	3	3	1	2	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:10865863G>A	ENST00000228251.4	-	5	720	c.520C>T	c.(520-522)Cgg>Tgg	p.R174W	YBX3_ENST00000279550.7_Missense_Mutation_p.R174W	NM_003651.4	NP_003642.3	P16989	YBOX3_HUMAN	Y box binding protein 3	174					3'-UTR-mediated mRNA stabilization (GO:0070935)|cellular hyperosmotic response (GO:0071474)|cellular response to tumor necrosis factor (GO:0071356)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|male gonad development (GO:0008584)|negative regulation of apoptotic process (GO:0043066)|negative regulation of intrinsic apoptotic signaling pathway in response to osmotic stress (GO:1902219)|negative regulation of necroptotic process (GO:0060546)|negative regulation of skeletal muscle tissue development (GO:0048642)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cytoplasmic translation (GO:2000767)|positive regulation of organ growth (GO:0046622)|response to cold (GO:0009409)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|polysome (GO:0005844)|tight junction (GO:0005923)	double-stranded DNA binding (GO:0003690)|mRNA 3'-UTR binding (GO:0003730)|poly(A) RNA binding (GO:0044822)|Rho GTPase binding (GO:0017048)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription corepressor activity (GO:0003714)										TAACGGCGCCGATCTGCAGCG	0.517																																						ENST00000228251.4																			0											c.(520-522)Cgg>Tgg		Y box binding protein 3							93	101	98					12																	10865863		2203	4300	6503	SO:0001583	missense	8531							g.chr12:10865863G>A	L29064	CCDS8630.1, CCDS44831.1	12p13.1	2013-03-13	2013-03-13	2013-03-13	ENSG00000060138	ENSG00000060138			2428	protein-coding gene	gene with protein product	"cold-shock domain containing A1"	603437	"cold shock domain protein A"	CSDA		2977358, 8710501	Standard	NM_003651		Approved	dbpA, ZONAB, CSDA1	uc001qyt.3	P16989	OTTHUMG00000168409	ENST00000228251.4:c.520C>T	12.37:g.10865863G>A	ENSP00000228251:p.Arg174Trp					YBX3_ENST00000279550.7_Missense_Mutation_p.R174W	p.R174W	NM_003651.4	NP_003642.3					5	720	-								B2RBW6|Q14121|Q969N6|Q96B76	Missense_Mutation	SNP	ENST00000228251.4	37	c.520C>T	CCDS8630.1	.	.	.	.	.	.	.	.	.	.	G	30	5.050652	0.93740	.	.	ENSG00000060138	ENST00000279550;ENST00000228251	T;T	0.32023	1.47;1.47	5.49	5.49	0.81192	.	0.000000	0.64402	D	0.000010	T	0.58163	0.2103	M	0.76838	2.35	0.49915	D	0.999832	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.993	T	0.60367	-0.7277	10	0.56958	D	0.05	.	16.8488	0.85988	0.0:0.0:1.0:0.0	.	174;174	P16989-2;P16989	.;DBPA_HUMAN	W	174	ENSP00000279550:R174W;ENSP00000228251:R174W	ENSP00000228251:R174W	R	-	1	2	CSDA	10757130	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.102000	0.50291	2.569000	0.86673	0.491000	0.48974	CGG		0.517	YBX3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000399628.1	NM_003651		4	81	0	0	0	1	0	4	81					A	10865863	G	A	10865863	3	1	435	1	0	0	0	0	1	0	0	0	3927	1057	37	2	618	2	CSDA	12	10865863	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	262115	10865863	122986032	5568	26493											
TAS2R13	50838	broad.mit.edu	37	chr12	11061452	11061452	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gccagtcttttatatgcatgTttatttgtatcagatttaaa	11	19	6	5	0	2	1	1	0	1	1	2	1	2	1	1	0	1	3	1	0	6	9			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:11061452T>C	ENST00000390677.2	-	1	709	c.446A>G	c.(445-447)aAc>aGc	p.N149S	PRR4_ENST00000536668.1_Intron	NM_023920.2	NP_076409.1	Q9NYV9	T2R13_HUMAN	taste receptor, type 2, member 13	149			N -> S (in a breast cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|positive regulation of cytokinesis (GO:0032467)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)|taste receptor activity (GO:0008527)	p.N149S(1)		breast(1)|endometrium(1)|large_intestine(4)|lung(2)|skin(1)	9						TATATGCATGTTTATTTGTAT	0.353																																						ENST00000390677.2																			1	Substitution - Missense(1)	p.N149S(1)	breast(1)	breast(1)|endometrium(1)|large_intestine(4)|lung(2)|skin(1)	9						c.(445-447)aAc>aGc		taste receptor, type 2, member 13							68	72	71					12																	11061452		2203	4300	6503	SO:0001583	missense	50838				sensory perception of taste	integral to membrane	taste receptor activity	g.chr12:11061452T>C	AF227137	CCDS8635.1	12p13	2012-08-22			ENSG00000212128	ENSG00000212128		"Taste receptors / Type 2", "GPCR / Unclassified : Taste receptors"	14919	protein-coding gene	gene with protein product		604792				10761934, 10766242	Standard	NM_023920		Approved	T2R13, TRB3	uc001qzg.1	Q9NYV9		ENST00000390677.2:c.446A>G	12.37:g.11061452T>C	ENSP00000375095:p.Asn149Ser					PRR4_ENST00000536668.1_Intron	p.N149S	NM_023920.2	NP_076409.1	Q9NYV9	T2R13_HUMAN			1	709	-			149		N -> S (in a breast cancer sample; somatic mutation).			Q4G0I5|Q502V8|Q645X2	Missense_Mutation	SNP	ENST00000390677.2	37	c.446A>G	CCDS8635.1	.	.	.	.	.	.	.	.	.	.	T	6.489	0.458358	0.12342	.	.	ENSG00000212128	ENST00000390677	T	0.36157	1.27	2.74	0.39	0.16275	.	1.380420	0.04808	N	0.434735	T	0.34890	0.0913	L	0.48218	1.51	0.09310	N	1	B	0.28880	0.226	B	0.37091	0.241	T	0.37056	-0.9722	10	0.38643	T	0.18	.	4.6502	0.12591	0.0:0.2756:0.0:0.7244	.	149	Q9NYV9	T2R13_HUMAN	S	149	ENSP00000375095:N149S	ENSP00000375095:N149S	N	-	2	0	TAS2R13	10952719	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-0.900000	0.04097	0.058000	0.16222	0.533000	0.62120	AAC		0.353	TAS2R13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400229.1			26	49	0	0	0	1	0	26	49					C	11061452	T	C	11061452	3	2	435	1	0	0	0	0	1	0	0	0	15564	1725	60	4	469	4	TAS2R13	12	11061452	Missense_Mutation	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	195589	11061452	122790443	5569	26494											
PRH2	5555	broad.mit.edu	37	chr12	11083323	11083323	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gaccacctttgggaggacagCaatctcaaccctctgctggt	9	9	10	13	0	2	0	1	0	2	0	3	3	2	2	3	3	3	2	3	3	2	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:11083323C>T	ENST00000396400.3	+	3	201	c.163C>T	c.(163-165)Caa>Taa	p.Q55*	PRR4_ENST00000536668.1_Intron|PRH2_ENST00000381847.3_Nonsense_Mutation_p.Q55*	NM_001110213.1	NP_001103683.1	P02810	PRPC_HUMAN	proline-rich protein HaeIII subfamily 2	55						extracellular space (GO:0005615)				breast(1)|endometrium(5)|kidney(2)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)	13						GGGAGGACAGCAATCTCAACC	0.552																																						ENST00000396400.3																			0				breast(1)|endometrium(5)|kidney(2)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)	13						c.(163-165)Caa>Taa		proline-rich protein HaeIII subfamily 2							118	132	127					12																	11083323		2203	4300	6503	SO:0001587	stop_gained	5555					extracellular space	protein binding	g.chr12:11083323C>T		CCDS8636.1	12p13.2	2012-10-02				ENSG00000134551			9367	protein-coding gene	gene with protein product	"parotid proline-rich protein", "acidic salivary proline-rich protein, HaeIII type, 2"	168790				3009472	Standard	NM_005042		Approved	Pr	uc001qzi.4	P02810		ENST00000396400.3:c.163C>T	12.37:g.11083323C>T	ENSP00000379682:p.Gln55*					PRR4_ENST00000536668.1_Intron|PRH2_ENST00000381847.3_Nonsense_Mutation_p.Q55*	p.Q55*	NM_001110213.1	NP_001103683.1	P02810	PRPC_HUMAN			3	201	+			55					A2VCM0|A3KN66|A5D902|B2RMW2|Q4VBP2|Q53XA2|Q6P2F6	Nonsense_Mutation	SNP	ENST00000396400.3	37	c.163C>T	CCDS8636.1	.	.	.	.	.	.	.	.	.	.	C	8.835	0.940802	0.18281	.	.	ENSG00000134551	ENST00000381847;ENST00000396400	.	.	.	1.11	-0.057	0.13803	.	5.267360	0.01632	U	0.023570	.	.	.	.	.	.	0.36559	A	0.872303	.	.	.	.	.	.	.	.	.	.	0.06236	T	0.91	.	3.9777	0.09481	0.4127:0.5873:0.0:0.0	.	.	.	.	X	55	.	ENSP00000371271:Q55X	Q	+	1	0	PRH2	10974590	0.001000	0.12720	0.000000	0.03702	0.028000	0.11728	1.329000	0.33770	-0.012000	0.14223	0.194000	0.17425	CAA		0.552	PRH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400231.1	NM_001110213		9	48	0	0	0	1	0	9	48					T	11083323	C	T	11083323	4	4	435	1	0	0	0	0	0	1	0	0	12483	711	25	3	173	3	PRH2	12	11083323	Nonsense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	21871	11083323	122768572	5570	26495											
TAS2R50	259296	broad.mit.edu	37	chr12	11139200	11139200	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	aatggttggttacaacccagGcattataagaagtaattctt	14	13	8	6	0	1	1	0	0	1	1	1	1	1	1	1	3	2	4	1	3	7	7			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:11139200G>A	ENST00000506868.1	-	1	311	c.260C>T	c.(259-261)gCc>gTc	p.A87V	PRR4_ENST00000536668.1_Intron|TAS2R14_ENST00000381852.4_Intron	NM_176890.2	NP_795371.2	P59544	T2R50_HUMAN	taste receptor, type 2, member 50	87					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)			haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(4)|ovary(2)|pancreas(1)	17						TACAACCCAGGCATTATAAGA	0.348																																						ENST00000506868.1																			0				haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(4)|ovary(2)|pancreas(1)	17						c.(259-261)gCc>gTc		taste receptor, type 2, member 50							71	80	77					12																	11139200		2202	4300	6502	SO:0001583	missense	259296				sensory perception of taste	integral to membrane	G-protein coupled receptor activity	g.chr12:11139200G>A	AF494235	CCDS8638.1	12p13.2	2012-08-22			ENSG00000212126	ENSG00000212126		"Taste receptors / Type 2", "GPCR / Unclassified : Taste receptors"	18882	protein-coding gene	gene with protein product		609627				12379855, 12584440, 16175505	Standard	NM_176890		Approved	T2R51	uc001qzl.2	P59544	OTTHUMG00000162719	ENST00000506868.1:c.260C>T	12.37:g.11139200G>A	ENSP00000424040:p.Ala87Val					TAS2R14_ENST00000381852.4_Intron|PRR4_ENST00000536668.1_Intron	p.A87V	NM_176890.2	NP_795371.2	P59544	T2R50_HUMAN			1	311	-			87					P59545|Q2M255|Q645Y0	Missense_Mutation	SNP	ENST00000506868.1	37	c.260C>T	CCDS8638.1	.	.	.	.	.	.	.	.	.	.	G	0.035	-1.313486	0.01331	.	.	ENSG00000212126	ENST00000506868	T	0.35236	1.32	1.84	0.89	0.19218	.	1.429420	0.05270	U	0.517282	T	0.24160	0.0585	L	0.35288	1.05	0.09310	N	1	B	0.23128	0.08	B	0.26864	0.074	T	0.26985	-1.0087	10	0.11182	T	0.66	.	3.3747	0.07233	0.4284:0.0:0.5716:0.0	.	87	P59544	T2R50_HUMAN	V	87	ENSP00000424040:A87V	ENSP00000424040:A87V	A	-	2	0	TAS2R50	11030467	0.002000	0.14202	0.016000	0.15963	0.254000	0.26022	-0.191000	0.09601	1.013000	0.39391	0.313000	0.20887	GCC		0.348	TAS2R50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370192.2	NM_176890		4	94	0	0	0	1	0	4	94					A	11139200	G	A	11139200	3	1	435	1	0	0	0	0	1	0	0	0	15581	1203	42	3	643	3	TAS2R50	12	11139200	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	55877	11139200	122712695	5571	26496											
TAS2R20	259295	broad.mit.edu	37	chr12	11149790	11149790	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaggaaggaggtcacagtttGcagagcttttatgtggatct	10	12	14	5	0	2	1	1	0	1	1	2	5	2	4	0	4	2	3	0	4	2	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:11149790G>A	ENST00000538986.1	-	1	684	c.685C>T	c.(685-687)Caa>Taa	p.Q229*	PRR4_ENST00000536668.1_Intron|TAS2R14_ENST00000381852.4_Intron	NM_176889.2	NP_795370.2	P59543	T2R20_HUMAN	taste receptor, type 2, member 20	229					sensory perception of taste (GO:0050909)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13						GTCACAGTTTGCAGAGCTTTT	0.388																																						ENST00000538986.1																			0				breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13						c.(685-687)Caa>Taa		taste receptor, type 2, member 20							175	174	174					12																	11149790		2203	4300	6503	SO:0001587	stop_gained	259295				sensory perception of taste	integral to membrane	G-protein coupled receptor activity	g.chr12:11149790G>A	AX097732, AF494236	CCDS8639.1	12p13.2	2012-08-22			ENSG00000255837	ENSG00000255837		"Taste receptors / Type 2", "GPCR / Unclassified : Taste receptors"	19109	protein-coding gene	gene with protein product		613962	"taste receptor, type 2, member 49"	TAS2R49			Standard	NM_176889		Approved	T2R20, T2R56	uc001qzm.2	P59543	OTTHUMG00000162695	ENST00000538986.1:c.685C>T	12.37:g.11149790G>A	ENSP00000441624:p.Gln229*					TAS2R14_ENST00000381852.4_Intron|PRR4_ENST00000536668.1_Intron	p.Q229*	NM_176889.2	NP_795370.2	P59543	T2R20_HUMAN			1	684	-			229					P59549|Q2HIZ4|Q496D8|Q645X9	Nonsense_Mutation	SNP	ENST00000538986.1	37	c.685C>T	CCDS8639.1	.	.	.	.	.	.	.	.	.	.	G	11.70	1.716346	0.30413	.	.	ENSG00000255837	ENST00000538986	.	.	.	2.66	-0.916	0.10489	.	0.250456	0.27563	U	0.018806	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.27785	T	0.31	.	2.4071	0.04415	0.2736:0.0:0.3155:0.4109	.	.	.	.	X	229	.	ENSP00000441624:Q229X	Q	-	1	0	TAS2R20	11041057	0.001000	0.12720	0.006000	0.13384	0.013000	0.08279	0.471000	0.22100	0.013000	0.14918	-0.293000	0.09583	CAA		0.388	TAS2R20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370130.2	NM_176889		42	65	0	0	0	1	0	42	65					A	11149790	G	A	11149790	4	1	435	1	0	0	0	0	0	1	0	0	15568	1328	46	3	248	3	TAS2R20	12	11149790	Nonsense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	10590	11149790	122702105	5572	26497											
LRP6	4040	broad.mit.edu	37	chr12	12274268	12274268	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgccactgaggtcattctcCgactaggagcatagtcactg	9	11	10	11	1	3	1	2	1	1	0	4	3	3	2	2	2	2	1	2	2	2	4	rs373389670		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:12274268C>T	ENST00000261349.4	-	23	4710	c.4634G>A	c.(4633-4635)cGg>cAg	p.R1545Q	BCL2L14_ENST00000396369.1_Intron|LRP6_ENST00000543091.1_Missense_Mutation_p.R1500Q	NM_002336.2	NP_002327.2	O75581	LRP6_HUMAN	low density lipoprotein receptor-related protein 6	1545					anterior/posterior pattern specification (GO:0009952)|axis elongation involved in somitogenesis (GO:0090245)|bone morphogenesis (GO:0060349)|bone remodeling (GO:0046849)|branching involved in mammary gland duct morphogenesis (GO:0060444)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in cardiac neural crest cell differentiation involved in heart development (GO:0061310)|canonical Wnt signaling pathway involved in neural crest cell differentiation (GO:0044335)|canonical Wnt signaling pathway involved in positive regulation of cardiac outflow tract cell proliferation (GO:0061324)|canonical Wnt signaling pathway involved in regulation of cell proliferation (GO:0044340)|cell migration involved in gastrulation (GO:0042074)|cellular response to cholesterol (GO:0071397)|cerebellum morphogenesis (GO:0021587)|cerebral cortex cell migration (GO:0021795)|cerebral cortex development (GO:0021987)|convergent extension (GO:0060026)|dopaminergic neuron differentiation (GO:0071542)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic limb morphogenesis (GO:0030326)|embryonic pattern specification (GO:0009880)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|external genitalia morphogenesis (GO:0035261)|face morphogenesis (GO:0060325)|forebrain radial glial cell differentiation (GO:0021861)|formation of radial glial scaffolds (GO:0021943)|gastrulation with mouth forming second (GO:0001702)|heart looping (GO:0001947)|mammary placode formation (GO:0060596)|midbrain development (GO:0030901)|midbrain-hindbrain boundary development (GO:0030917)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of planar cell polarity pathway involved in cardiac muscle tissue morphogenesis (GO:2000151)|negative regulation of planar cell polarity pathway involved in cardiac right atrium morphogenesis (GO:2000162)|negative regulation of planar cell polarity pathway involved in neural tube closure (GO:2000168)|negative regulation of planar cell polarity pathway involved in outflow tract morphogenesis (GO:2000164)|negative regulation of planar cell polarity pathway involved in pericardium morphogenesis (GO:2000166)|negative regulation of planar cell polarity pathway involved in ventricular septum morphogenesis (GO:2000149)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|negative regulation of smooth muscle cell apoptotic process (GO:0034392)|neural crest cell differentiation (GO:0014033)|neural crest formation (GO:0014029)|neural tube closure (GO:0001843)|odontogenesis of dentin-containing tooth (GO:0042475)|palate development (GO:0060021)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of bone resorption (GO:0045780)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell cycle (GO:0045787)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of ossification (GO:0045778)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway involved in dorsal/ventral axis specification (GO:2000055)|post-anal tail morphogenesis (GO:0036342)|primitive streak formation (GO:0090009)|receptor-mediated endocytosis of low-density lipoprotein particle involved in cholesterol transport (GO:0090118)|regulation of cell development (GO:0060284)|regulation of fat cell differentiation (GO:0045598)|regulation of ossification (GO:0030278)|response to folic acid (GO:0051593)|response to peptide hormone (GO:0043434)|single organismal cell-cell adhesion (GO:0016337)|synaptic transmission (GO:0007268)|thalamus development (GO:0021794)|toxin transport (GO:1901998)|trachea cartilage morphogenesis (GO:0060535)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway involved in dorsal/ventral axis specification (GO:0044332)|Wnt signaling pathway involved in forebrain neuroblast division (GO:0021874)|Wnt signaling pathway involved in somitogenesis (GO:0090244)	cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|synapse (GO:0045202)	apolipoprotein binding (GO:0034185)|coreceptor activity involved in Wnt signaling pathway (GO:0071936)|frizzled binding (GO:0005109)|identical protein binding (GO:0042802)|kinase inhibitor activity (GO:0019210)|low-density lipoprotein receptor activity (GO:0005041)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|toxin transporter activity (GO:0019534)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	85		Prostate(47;0.0865)				GGTCATTCTCCGACTAGGAGC	0.537																																						ENST00000261349.4																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	85						c.(4633-4635)cGg>cAg		low density lipoprotein receptor-related protein 6		C	GLN/ARG	0,4406		0,0,2203	138	137	137		4634	5	1	12		137	1,8599	1.2+/-3.3	0,1,4299	no	missense	LRP6	NM_002336.2	43	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	1545/1614	12274268	1,13005	2203	4300	6503	SO:0001583	missense	4040				cellular response to cholesterol|negative regulation of protein phosphorylation|negative regulation of protein serine/threonine kinase activity|negative regulation of smooth muscle cell apoptosis|neural crest formation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell cycle|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	cell surface|cytoplasmic vesicle|endoplasmic reticulum|integral to membrane|plasma membrane	coreceptor activity|frizzled binding|kinase inhibitor activity|low-density lipoprotein receptor activity|protein homodimerization activity|toxin transporter activity|Wnt-protein binding	g.chr12:12274268C>T	AF074264	CCDS8647.1	12p13.2	2013-05-29			ENSG00000070018	ENSG00000070018		"Low density lipoprotein receptors"	6698	protein-coding gene	gene with protein product		603507				9704021	Standard	NM_002336		Approved	ADCAD2	uc001rah.4	O75581	OTTHUMG00000168540	ENST00000261349.4:c.4634G>A	12.37:g.12274268C>T	ENSP00000261349:p.Arg1545Gln					BCL2L14_ENST00000396369.1_Intron|LRP6_ENST00000543091.1_Missense_Mutation_p.R1500Q	p.R1545Q	NM_002336.2	NP_002327.2	O75581	LRP6_HUMAN			23	4710	-		Prostate(47;0.0865)	1545					Q17RZ2	Missense_Mutation	SNP	ENST00000261349.4	37	c.4634G>A	CCDS8647.1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.402862	0.83230	0.0	1.16E-4	ENSG00000070018	ENST00000261349;ENST00000543091	D;D	0.93859	-3.2;-3.3	5.87	4.98	0.66077	.	0.111853	0.38959	N	0.001505	D	0.92437	0.7599	L	0.61218	1.895	0.48632	D	0.999684	P;D	0.56035	0.82;0.974	B;P	0.47573	0.299;0.55	D	0.91001	0.4842	10	0.37606	T	0.19	.	11.176	0.48598	0.0:0.8595:0.0:0.1405	.	1500;1545	F5H7J9;O75581	.;LRP6_HUMAN	Q	1545;1500	ENSP00000261349:R1545Q;ENSP00000442472:R1500Q	ENSP00000261349:R1545Q	R	-	2	0	LRP6	12165535	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.493000	0.60341	1.490000	0.48466	0.650000	0.86243	CGG		0.537	LRP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400137.1			24	50	0	0	0	1	0	24	50					T	12274268	C	T	12274268	3	4	435	1	0	0	0	0	1	0	0	0	8962	652	23	2	211	2	LRP6	12	12274268	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	1124478	12274268	121577627	5573	26498											
LRP6	4040	broad.mit.edu	37	chr12	12303922	12303922	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gctctgttgttcatcaatcaCcatgcggttgatggcactct	7	14	9	11	1	5	1	3	1	2	0	5	1	5	1	1	2	1	5	1	2	1	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:12303922C>T	ENST00000261349.4	-	13	2918	c.2842G>A	c.(2842-2844)Gtg>Atg	p.V948M	LRP6_ENST00000543091.1_Missense_Mutation_p.V948M	NM_002336.2	NP_002327.2	O75581	LRP6_HUMAN	low density lipoprotein receptor-related protein 6	948	Beta-propeller 4.				anterior/posterior pattern specification (GO:0009952)|axis elongation involved in somitogenesis (GO:0090245)|bone morphogenesis (GO:0060349)|bone remodeling (GO:0046849)|branching involved in mammary gland duct morphogenesis (GO:0060444)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in cardiac neural crest cell differentiation involved in heart development (GO:0061310)|canonical Wnt signaling pathway involved in neural crest cell differentiation (GO:0044335)|canonical Wnt signaling pathway involved in positive regulation of cardiac outflow tract cell proliferation (GO:0061324)|canonical Wnt signaling pathway involved in regulation of cell proliferation (GO:0044340)|cell migration involved in gastrulation (GO:0042074)|cellular response to cholesterol (GO:0071397)|cerebellum morphogenesis (GO:0021587)|cerebral cortex cell migration (GO:0021795)|cerebral cortex development (GO:0021987)|convergent extension (GO:0060026)|dopaminergic neuron differentiation (GO:0071542)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic limb morphogenesis (GO:0030326)|embryonic pattern specification (GO:0009880)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|external genitalia morphogenesis (GO:0035261)|face morphogenesis (GO:0060325)|forebrain radial glial cell differentiation (GO:0021861)|formation of radial glial scaffolds (GO:0021943)|gastrulation with mouth forming second (GO:0001702)|heart looping (GO:0001947)|mammary placode formation (GO:0060596)|midbrain development (GO:0030901)|midbrain-hindbrain boundary development (GO:0030917)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of planar cell polarity pathway involved in cardiac muscle tissue morphogenesis (GO:2000151)|negative regulation of planar cell polarity pathway involved in cardiac right atrium morphogenesis (GO:2000162)|negative regulation of planar cell polarity pathway involved in neural tube closure (GO:2000168)|negative regulation of planar cell polarity pathway involved in outflow tract morphogenesis (GO:2000164)|negative regulation of planar cell polarity pathway involved in pericardium morphogenesis (GO:2000166)|negative regulation of planar cell polarity pathway involved in ventricular septum morphogenesis (GO:2000149)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|negative regulation of smooth muscle cell apoptotic process (GO:0034392)|neural crest cell differentiation (GO:0014033)|neural crest formation (GO:0014029)|neural tube closure (GO:0001843)|odontogenesis of dentin-containing tooth (GO:0042475)|palate development (GO:0060021)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of bone resorption (GO:0045780)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell cycle (GO:0045787)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of ossification (GO:0045778)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway involved in dorsal/ventral axis specification (GO:2000055)|post-anal tail morphogenesis (GO:0036342)|primitive streak formation (GO:0090009)|receptor-mediated endocytosis of low-density lipoprotein particle involved in cholesterol transport (GO:0090118)|regulation of cell development (GO:0060284)|regulation of fat cell differentiation (GO:0045598)|regulation of ossification (GO:0030278)|response to folic acid (GO:0051593)|response to peptide hormone (GO:0043434)|single organismal cell-cell adhesion (GO:0016337)|synaptic transmission (GO:0007268)|thalamus development (GO:0021794)|toxin transport (GO:1901998)|trachea cartilage morphogenesis (GO:0060535)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway involved in dorsal/ventral axis specification (GO:0044332)|Wnt signaling pathway involved in forebrain neuroblast division (GO:0021874)|Wnt signaling pathway involved in somitogenesis (GO:0090244)	cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|synapse (GO:0045202)	apolipoprotein binding (GO:0034185)|coreceptor activity involved in Wnt signaling pathway (GO:0071936)|frizzled binding (GO:0005109)|identical protein binding (GO:0042802)|kinase inhibitor activity (GO:0019210)|low-density lipoprotein receptor activity (GO:0005041)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|toxin transporter activity (GO:0019534)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	85		Prostate(47;0.0865)				TCATCAATCACCATGCGGTTG	0.468																																						ENST00000261349.4																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	85						c.(2842-2844)Gtg>Atg		low density lipoprotein receptor-related protein 6							127	112	117					12																	12303922		2203	4300	6503	SO:0001583	missense	4040				cellular response to cholesterol|negative regulation of protein phosphorylation|negative regulation of protein serine/threonine kinase activity|negative regulation of smooth muscle cell apoptosis|neural crest formation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell cycle|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	cell surface|cytoplasmic vesicle|endoplasmic reticulum|integral to membrane|plasma membrane	coreceptor activity|frizzled binding|kinase inhibitor activity|low-density lipoprotein receptor activity|protein homodimerization activity|toxin transporter activity|Wnt-protein binding	g.chr12:12303922C>T	AF074264	CCDS8647.1	12p13.2	2013-05-29			ENSG00000070018	ENSG00000070018		"Low density lipoprotein receptors"	6698	protein-coding gene	gene with protein product		603507				9704021	Standard	NM_002336		Approved	ADCAD2	uc001rah.4	O75581	OTTHUMG00000168540	ENST00000261349.4:c.2842G>A	12.37:g.12303922C>T	ENSP00000261349:p.Val948Met					LRP6_ENST00000543091.1_Missense_Mutation_p.V948M	p.V948M	NM_002336.2	NP_002327.2	O75581	LRP6_HUMAN			13	2918	-		Prostate(47;0.0865)	948			Beta-propeller 4.		Q17RZ2	Missense_Mutation	SNP	ENST00000261349.4	37	c.2842G>A	CCDS8647.1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.400196	0.83120	.	.	ENSG00000070018	ENST00000261349;ENST00000543091	D;D	0.91124	-2.79;-2.79	5.31	4.41	0.53225	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.51477	U	0.000081	D	0.87787	0.6265	N	0.20574	0.59	0.80722	D	1	P;D	0.58620	0.702;0.983	B;P	0.53266	0.213;0.722	D	0.86747	0.1958	10	0.33141	T	0.24	.	14.3236	0.66505	0.0:0.927:0.0:0.073	.	948;948	F5H7J9;O75581	.;LRP6_HUMAN	M	948	ENSP00000261349:V948M;ENSP00000442472:V948M	ENSP00000261349:V948M	V	-	1	0	LRP6	12195189	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.111000	0.50360	2.478000	0.83669	0.585000	0.79938	GTG		0.468	LRP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400137.1			17	29	0	0	0	1	0	17	29					T	12303922	C	T	12303922	3	4	435	1	0	0	0	0	1	0	0	0	8962	507	18	3	2043	3	LRP6	12	12303922	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	29654	12303922	121547973	5574	26499											
LRP6	4040	broad.mit.edu	37	chr12	12397436	12397436	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtttaatggcttcttcgctgAcatcactccagtatatcaag	10	14	7	10	1	3	1	2	1	1	0	5	1	4	1	1	1	0	4	1	1	4	6			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:12397436A>G	ENST00000261349.4	-	2	285	c.209T>C	c.(208-210)gTc>gCc	p.V70A	LRP6_ENST00000543091.1_Missense_Mutation_p.V70A	NM_002336.2	NP_002327.2	O75581	LRP6_HUMAN	low density lipoprotein receptor-related protein 6	70	Beta-propeller 1.				anterior/posterior pattern specification (GO:0009952)|axis elongation involved in somitogenesis (GO:0090245)|bone morphogenesis (GO:0060349)|bone remodeling (GO:0046849)|branching involved in mammary gland duct morphogenesis (GO:0060444)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in cardiac neural crest cell differentiation involved in heart development (GO:0061310)|canonical Wnt signaling pathway involved in neural crest cell differentiation (GO:0044335)|canonical Wnt signaling pathway involved in positive regulation of cardiac outflow tract cell proliferation (GO:0061324)|canonical Wnt signaling pathway involved in regulation of cell proliferation (GO:0044340)|cell migration involved in gastrulation (GO:0042074)|cellular response to cholesterol (GO:0071397)|cerebellum morphogenesis (GO:0021587)|cerebral cortex cell migration (GO:0021795)|cerebral cortex development (GO:0021987)|convergent extension (GO:0060026)|dopaminergic neuron differentiation (GO:0071542)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic limb morphogenesis (GO:0030326)|embryonic pattern specification (GO:0009880)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|external genitalia morphogenesis (GO:0035261)|face morphogenesis (GO:0060325)|forebrain radial glial cell differentiation (GO:0021861)|formation of radial glial scaffolds (GO:0021943)|gastrulation with mouth forming second (GO:0001702)|heart looping (GO:0001947)|mammary placode formation (GO:0060596)|midbrain development (GO:0030901)|midbrain-hindbrain boundary development (GO:0030917)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of planar cell polarity pathway involved in cardiac muscle tissue morphogenesis (GO:2000151)|negative regulation of planar cell polarity pathway involved in cardiac right atrium morphogenesis (GO:2000162)|negative regulation of planar cell polarity pathway involved in neural tube closure (GO:2000168)|negative regulation of planar cell polarity pathway involved in outflow tract morphogenesis (GO:2000164)|negative regulation of planar cell polarity pathway involved in pericardium morphogenesis (GO:2000166)|negative regulation of planar cell polarity pathway involved in ventricular septum morphogenesis (GO:2000149)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|negative regulation of smooth muscle cell apoptotic process (GO:0034392)|neural crest cell differentiation (GO:0014033)|neural crest formation (GO:0014029)|neural tube closure (GO:0001843)|odontogenesis of dentin-containing tooth (GO:0042475)|palate development (GO:0060021)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of bone resorption (GO:0045780)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell cycle (GO:0045787)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of ossification (GO:0045778)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway involved in dorsal/ventral axis specification (GO:2000055)|post-anal tail morphogenesis (GO:0036342)|primitive streak formation (GO:0090009)|receptor-mediated endocytosis of low-density lipoprotein particle involved in cholesterol transport (GO:0090118)|regulation of cell development (GO:0060284)|regulation of fat cell differentiation (GO:0045598)|regulation of ossification (GO:0030278)|response to folic acid (GO:0051593)|response to peptide hormone (GO:0043434)|single organismal cell-cell adhesion (GO:0016337)|synaptic transmission (GO:0007268)|thalamus development (GO:0021794)|toxin transport (GO:1901998)|trachea cartilage morphogenesis (GO:0060535)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway involved in dorsal/ventral axis specification (GO:0044332)|Wnt signaling pathway involved in forebrain neuroblast division (GO:0021874)|Wnt signaling pathway involved in somitogenesis (GO:0090244)	cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|synapse (GO:0045202)	apolipoprotein binding (GO:0034185)|coreceptor activity involved in Wnt signaling pathway (GO:0071936)|frizzled binding (GO:0005109)|identical protein binding (GO:0042802)|kinase inhibitor activity (GO:0019210)|low-density lipoprotein receptor activity (GO:0005041)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|toxin transporter activity (GO:0019534)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	85		Prostate(47;0.0865)				TTCTTCGCTGACATCACTCCA	0.443																																						ENST00000261349.4																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	85						c.(208-210)gTc>gCc		low density lipoprotein receptor-related protein 6							119	98	105					12																	12397436		2203	4300	6503	SO:0001583	missense	4040				cellular response to cholesterol|negative regulation of protein phosphorylation|negative regulation of protein serine/threonine kinase activity|negative regulation of smooth muscle cell apoptosis|neural crest formation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell cycle|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	cell surface|cytoplasmic vesicle|endoplasmic reticulum|integral to membrane|plasma membrane	coreceptor activity|frizzled binding|kinase inhibitor activity|low-density lipoprotein receptor activity|protein homodimerization activity|toxin transporter activity|Wnt-protein binding	g.chr12:12397436A>G	AF074264	CCDS8647.1	12p13.2	2013-05-29			ENSG00000070018	ENSG00000070018		"Low density lipoprotein receptors"	6698	protein-coding gene	gene with protein product		603507				9704021	Standard	NM_002336		Approved	ADCAD2	uc001rah.4	O75581	OTTHUMG00000168540	ENST00000261349.4:c.209T>C	12.37:g.12397436A>G	ENSP00000261349:p.Val70Ala					LRP6_ENST00000543091.1_Missense_Mutation_p.V70A	p.V70A	NM_002336.2	NP_002327.2	O75581	LRP6_HUMAN			2	285	-		Prostate(47;0.0865)	70			Beta-propeller 1.		Q17RZ2	Missense_Mutation	SNP	ENST00000261349.4	37	c.209T>C	CCDS8647.1	.	.	.	.	.	.	.	.	.	.	A	16.64	3.180837	0.57800	.	.	ENSG00000070018	ENST00000261349;ENST00000543091	D;D	0.91011	-2.77;-2.77	5.04	5.04	0.67666	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.47093	U	0.000260	D	0.94709	0.8293	M	0.83603	2.65	0.80722	D	1	D;D	0.64830	0.983;0.994	D;D	0.67548	0.936;0.952	D	0.93612	0.6940	10	0.25106	T	0.35	.	14.9552	0.71107	1.0:0.0:0.0:0.0	.	70;70	F5H7J9;O75581	.;LRP6_HUMAN	A	70	ENSP00000261349:V70A;ENSP00000442472:V70A	ENSP00000261349:V70A	V	-	2	0	LRP6	12288703	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.139000	0.94554	2.123000	0.65237	0.377000	0.23210	GTC		0.443	LRP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400137.1			24	27	0	0	0	1	0	24	27					G	12397436	A	G	12397436	3	3	435	1	0	0	0	0	1	0	0	0	8962	275	10	4	4720	4	LRP6	12	12397436	Missense_Mutation	SNP	A	TCGA-XK-AAIW-01A-11D-A41K-08	93514	12397436	121454459	5575	26500											
MANSC1	54682	broad.mit.edu	37	chr12	12483540	12483540	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggcgggctttggagtagcCgaggtggtatgtggagaagc	7	9	20	5	2	0	1	0	0	0	1	0	4	0	2	1	6	2	3	1	6	3	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:12483540C>T	ENST00000535902.1	-	4	1280	c.717G>A	c.(715-717)tcG>tcA	p.S239S	MANSC1_ENST00000545735.1_Silent_p.S158S|MANSC1_ENST00000396349.3_Silent_p.S205S			Q9H8J5	MANS1_HUMAN	MANSC domain containing 1	239	Thr-rich.					integral component of membrane (GO:0016021)				breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|skin(1)|stomach(4)	23		Prostate(47;0.0865)		BRCA - Breast invasive adenocarcinoma(232;0.185)		TTGGAGTAGCCGAGGTGGTAT	0.542																																						ENST00000535902.1																			0				breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|skin(1)|stomach(4)	23						c.(715-717)tcG>tcA		MANSC domain containing 1							96	102	100					12																	12483540		2203	4300	6503	SO:0001819	synonymous_variant	54682					integral to membrane		g.chr12:12483540C>T	AK001160	CCDS8648.1	12p13.2	2006-04-12				ENSG00000111261			25505	protein-coding gene	gene with protein product						12975309	Standard	NM_018050		Approved	FLJ10298, LOH12CR3	uc001rai.1	Q9H8J5		ENST00000535902.1:c.717G>A	12.37:g.12483540C>T						MANSC1_ENST00000396349.3_Silent_p.S205S|MANSC1_ENST00000545735.1_Silent_p.S158S	p.S239S			Q9H8J5	MANS1_HUMAN		BRCA - Breast invasive adenocarcinoma(232;0.185)	4	1280	-		Prostate(47;0.0865)	239			Thr-rich.		Q8NEC1|Q9NW60	Silent	SNP	ENST00000535902.1	37	c.717G>A	CCDS8648.1																																																																																				0.542	MANSC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400144.1	NM_018050		11	38	0	0	0	1	0	11	38					T	12483540	C	T	12483540	2	4	435	1	0	0	0	0	0	0	0	1	9224	639	23	2		2	MANSC1	12	12483540	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	86104	12483540	121368355	5576	26501											
DUSP16	80824	broad.mit.edu	37	chr12	12630760	12630760	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcacagggtggactgaggggCgtctcgcttttctgtccacc	5	10	14	12	2	2	1	0	1	2	0	4	2	3	2	2	4	0	2	2	4	0	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:12630760C>T	ENST00000228862.2	-	7	1636	c.1005G>A	c.(1003-1005)acG>acA	p.T335T	DUSP16_ENST00000545864.1_5'Flank|DUSP16_ENST00000298573.4_3'UTR	NM_030640.2	NP_085143.1	Q9BY84	DUS16_HUMAN	dual specificity phosphatase 16	335					dephosphorylation (GO:0016311)|inactivation of MAPK activity (GO:0000188)|MAPK export from nucleus (GO:0045204)|MAPK phosphatase export from nucleus, leptomycin B sensitive (GO:0045209)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|nucleus (GO:0005634)	MAP kinase tyrosine/serine/threonine phosphatase activity (GO:0017017)|phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			endometrium(7)|kidney(2)|large_intestine(6)|lung(6)|pancreas(1)|prostate(1)|urinary_tract(3)	26		Prostate(47;0.0687)		BRCA - Breast invasive adenocarcinoma(232;0.0203)		GACTGAGGGGCGTCTCGCTTT	0.622																																					Ovarian(158;443 1896 15437 36069 46477)	ENST00000228862.2																			0				endometrium(7)|kidney(2)|large_intestine(6)|lung(6)|pancreas(1)|prostate(1)|urinary_tract(3)	26						c.(1003-1005)acG>acA		dual specificity phosphatase 16							54	50	52					12																	12630760		2203	4300	6503	SO:0001819	synonymous_variant	80824				inactivation of MAPK activity|MAPK export from nucleus|MAPK phosphatase export from nucleus, leptomycin B sensitive	cytoplasmic membrane-bounded vesicle|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity	g.chr12:12630760C>T	AB052156	CCDS8650.1	12p13	2011-06-09				ENSG00000111266		"Protein tyrosine phosphatases / Class I Cys-based PTPs : MAP kinase phosphatases"	17909	protein-coding gene	gene with protein product	"MAPK phosphatase-7"	607175				11359773, 11489891, 15888437	Standard	NM_030640		Approved	MKP-7, KIAA1700, MKP7	uc001rao.2	Q9BY84		ENST00000228862.2:c.1005G>A	12.37:g.12630760C>T						DUSP16_ENST00000298573.4_3'UTR	p.T335T	NM_030640.2	NP_085143.1	Q9BY84	DUS16_HUMAN		BRCA - Breast invasive adenocarcinoma(232;0.0203)	7	1636	-		Prostate(47;0.0687)	335					Q547C7|Q96QS2|Q9C0G3	Silent	SNP	ENST00000228862.2	37	c.1005G>A	CCDS8650.1																																																																																				0.622	DUSP16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400311.1	NM_030640		24	30	0	0	0	1	0	24	30					T	12630760	C	T	12630760	2	4	435	1	0	0	0	0	0	0	0	1	4816	755	27	1		1	DUSP16	12	12630760	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	147220	12630760	121221135	5577	26502											
HEBP1	50865	broad.mit.edu	37	chr12	13140127	13140127	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcccgttcctcaatcttaacGcttttgtcactgggagctgg	6	14	9	12	2	3	0	2	0	1	0	5	1	5	1	2	2	2	3	2	2	2	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:13140127G>A	ENST00000014930.4	-	3	515	c.357C>T	c.(355-357)agC>agT	p.S119S	RP11-392P7.6_ENST00000499948.2_RNA|HEBP1_ENST00000536942.1_Silent_p.S119S	NM_015987.4	NP_057071.2	Q9NRV9	HEBP1_HUMAN	heme binding protein 1	119					circadian rhythm (GO:0007623)	cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	heme binding (GO:0020037)			breast(1)|endometrium(1)|large_intestine(3)|lung(1)|urinary_tract(1)	7		Prostate(47;0.183)		BRCA - Breast invasive adenocarcinoma(232;0.153)		CAATCTTAACGCTTTTGTCAC	0.483																																						ENST00000536942.1																			0				breast(1)|endometrium(1)|large_intestine(3)|lung(1)|urinary_tract(1)	7						c.(355-357)agC>agT		heme binding protein 1							169	151	157					12																	13140127		2203	4300	6503	SO:0001819	synonymous_variant	50865				circadian rhythm	extracellular region		g.chr12:13140127G>A	AF117615	CCDS31749.1	12p13.2	2014-01-30			ENSG00000013583	ENSG00000013583		"Endogenous ligands"	17176	protein-coding gene	gene with protein product		605826				10640688	Standard	NM_015987		Approved	HEBP, HBP	uc001rbd.3	Q9NRV9	OTTHUMG00000168771	ENST00000014930.4:c.357C>T	12.37:g.13140127G>A						HEBP1_ENST00000014930.4_Silent_p.S119S	p.S119S			Q9NRV9	HEBP1_HUMAN		BRCA - Breast invasive adenocarcinoma(232;0.153)	3	507	-		Prostate(47;0.183)	119					A8K1G2|Q9Y5Z5	Silent	SNP	ENST00000014930.4	37	c.357C>T	CCDS31749.1																																																																																				0.483	HEBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401001.1			6	128	0	0	0	1	0	6	128					A	13140127	G	A	13140127	2	1	435	1	0	0	0	0	0	0	0	1	7036	1078	38	1		1	HEBP1	12	13140127	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	509367	13140127	120711768	5578	26503											
GSG1	83445	broad.mit.edu	37	chr12	13240093	13240093	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tgacagcacttactagaaggCccagccataattccaaacat	15	8	6	12	0	0	2	0	1	0	1	1	2	1	2	3	1	4	1	3	1	5	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:13240093C>T	ENST00000432710.2	-	5	802	c.670G>A	c.(670-672)Gcc>Acc	p.A224T	GSG1_ENST00000396302.3_Missense_Mutation_p.G252D|GSG1_ENST00000337630.6_Missense_Mutation_p.A211T|GSG1_ENST00000324458.8_Missense_Mutation_p.A247T|GSG1_ENST00000396310.2_Missense_Mutation_p.A180T|GSG1_ENST00000351606.6_Missense_Mutation_p.G288D|GSG1_ENST00000537302.1_Missense_Mutation_p.A183T|GSG1_ENST00000457134.2_Missense_Mutation_p.A160T	NM_001206842.1	NP_001193771.1	Q2KHT4	GSG1_HUMAN	germ cell associated 1	234						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(3)|lung(4)|skin(1)|urinary_tract(1)	10		Prostate(47;0.183)		BRCA - Breast invasive adenocarcinoma(232;0.15)		TACTAGAAGGCCCAGCCATAA	0.512																																						ENST00000337630.6																			0				endometrium(1)|large_intestine(3)|lung(4)|skin(1)|urinary_tract(1)	10						c.(631-633)Gcc>Acc		germ cell associated 1							111	92	99					12																	13240093		2203	4300	6503	SO:0001583	missense	83445					endoplasmic reticulum membrane|integral to membrane		g.chr12:13240093C>T	BC001796	CCDS8659.2, CCDS44835.1, CCDS44836.1, CCDS55806.1, CCDS55807.1, CCDS55808.1	12p13.31	2007-12-03			ENSG00000111305	ENSG00000111305			19716	protein-coding gene	gene with protein product							Standard	NM_031289		Approved	MGC3146	uc001rbn.3	Q2KHT4	OTTHUMG00000150148	ENST00000432710.2:c.670G>A	12.37:g.13240093C>T	ENSP00000405032:p.Ala224Thr					GSG1_ENST00000537302.1_Missense_Mutation_p.A183T|GSG1_ENST00000432710.2_Missense_Mutation_p.A224T|GSG1_ENST00000351606.6_Missense_Mutation_p.G288D|GSG1_ENST00000396310.2_Missense_Mutation_p.A180T|GSG1_ENST00000457134.2_Missense_Mutation_p.A160T|GSG1_ENST00000396302.3_Missense_Mutation_p.G252D|GSG1_ENST00000324458.8_Missense_Mutation_p.A247T	p.A211T	NM_153823.3	NP_722545.2	Q2KHT4	GSG1_HUMAN		BRCA - Breast invasive adenocarcinoma(232;0.15)	5	698	-		Prostate(47;0.183)	234					Q8N4M3|Q8NBR4|Q8NBS0|Q8NBT1|Q96LP9|Q96SI6|Q9BUY4	Missense_Mutation	SNP	ENST00000432710.2	37	c.631G>A	CCDS55808.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.16|17.16	3.317771|3.317771	0.60524|0.60524	.|.	.|.	ENSG00000111305|ENSG00000111305	ENST00000337630;ENST00000324458;ENST00000396310;ENST00000457134;ENST00000432710;ENST00000537302|ENST00000396302;ENST00000351606;ENST00000405543	T;T;T;T;T;T|T;T	0.36699|0.41065	1.34;1.3;1.38;1.24;1.33;1.38|1.04;1.01	5.2|5.2	5.2|5.2	0.72013|0.72013	.|.	2.972960|.	0.01558|.	N|.	0.020015|.	T|T	0.67608|0.67608	0.2911|0.2911	M|M	0.80028|0.80028	2.48|2.48	0.58432|0.58432	D|D	0.999999|0.999999	B;B;D;D;B|D;D;D	0.76494|0.89917	0.242;0.027;0.999;0.999;0.056|1.0;1.0;1.0	B;B;D;D;B|D;D;D	0.70935|0.81914	0.094;0.046;0.959;0.971;0.057|0.995;0.993;0.984	T|T	0.69359|0.69359	-0.5166|-0.5166	10|9	0.66056|0.45353	D|T	0.02|0.12	.|.	18.8183|18.8183	0.92086|0.92086	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	224;234;160;183;211|288;288;252	Q2KHT4-6;Q2KHT4;Q2KHT4-5;Q2KHT4-2;F1T0A1|Q2KHT4-7;G3XAB9;F1T0A0	.;GSG1_HUMAN;.;.;.|.;.;.	T|D	211;247;180;160;224;183|252;288;249	ENSP00000336816:A211T;ENSP00000320838:A247T;ENSP00000379604:A180T;ENSP00000398384:A160T;ENSP00000405032:A224T;ENSP00000441718:A183T|ENSP00000379596:G252D;ENSP00000336857:G288D	ENSP00000320838:A247T|ENSP00000336857:G288D	A|G	-|-	1|2	0|0	GSG1|GSG1	13131360|13131360	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.961000|0.961000	0.63080|0.63080	5.057000|5.057000	0.64294|0.64294	2.431000|2.431000	0.82371|0.82371	0.555000|0.555000	0.69702|0.69702	GCC|GGC		0.512	GSG1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316546.1	NM_031289		40	53	0	0	0	1	0	40	53					T	13240093	C	T	13240093	3	4	435	1	0	0	0	0	1	0	0	0	6820	739	26	3	357	3	GSG1	12	13240093	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	99966	13240093	120611802	5579	26504											
GRIN2B	2904	broad.mit.edu	37	chr12	13768515	13768515	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtcataggtgaacttcacaGatttagaaattttcttaagg	13	14	9	5	0	3	3	2	1	1	2	3	3	3	3	0	3	1	0	0	3	5	7			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:13768515G>T	ENST00000609686.1	-	6	1621	c.1412C>A	c.(1411-1413)tCt>tAt	p.S471Y		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	471					behavioral fear response (GO:0001662)|behavioral response to pain (GO:0048266)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|glutamate receptor signaling pathway (GO:0007215)|in utero embryonic development (GO:0001701)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning (GO:0007612)|learning or memory (GO:0007611)|memory (GO:0007613)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of synaptic plasticity (GO:0048167)|response to ethanol (GO:0045471)|sensory organ development (GO:0007423)|startle response (GO:0001964)|suckling behavior (GO:0001967)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Haloperidol(DB00502)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	GAACTTCACAGATTTAGAAAT	0.408																																						ENST00000279593.3																			0				NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143						c.(1411-1413)tCt>tAt		glutamate receptor, ionotropic, N-methyl D-aspartate 2B	Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)						172	186	181					12																	13768515		2203	4300	6503	SO:0001583	missense	2904				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	g.chr12:13768515G>T		CCDS8662.1	12p13.1	2014-07-16			ENSG00000273079			"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4586	protein-coding gene	gene with protein product		138252		NMDAR2B		1350383	Standard	NM_000834		Approved	GluN2B	uc001rbt.2	Q13224	OTTHUMG00000137373	ENST00000609686.1:c.1412C>A	12.37:g.13768515G>T	ENSP00000477455:p.Ser471Tyr						p.S471Y	NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN			6	1621	-			471					Q12919|Q13220|Q13225|Q14CU4|Q9UM56	Missense_Mutation	SNP	ENST00000609686.1	37	c.1412C>A	CCDS8662.1	.	.	.	.	.	.	.	.	.	.	G	15.33	2.800679	0.50315	.	.	ENSG00000150086	ENST00000279593	T	0.27890	1.64	6.02	6.02	0.97574	Extracellular solute-binding protein, family 3 (1);Glutamate receptor, L-glutamate/glycine-binding (1);Ionotropic glutamate receptor (1);	0.186441	0.48286	D	0.000187	T	0.19805	0.0476	N	0.11560	0.145	0.47737	D	0.999506	B	0.06786	0.001	B	0.10450	0.005	T	0.03887	-1.0995	10	0.52906	T	0.07	.	14.6664	0.68910	0.0688:0.0:0.9312:0.0	.	471	Q13224	NMDE2_HUMAN	Y	471	ENSP00000279593:S471Y	ENSP00000279593:S471Y	S	-	2	0	GRIN2B	13659782	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.210000	0.51129	2.850000	0.98022	0.650000	0.86243	TCT		0.408	GRIN2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268014.2			32	134	1	0	4.62619e-21	1	5.13336e-21	32	134					T	13768515	G	T	13768515	3	4	435	1	0	0	0	0	1	0	0	0	6780	942	33	5	3074	5	GRIN2B	12	13768515	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	528422	13768515	120083380	5580	26505											
ATF7IP	55729	broad.mit.edu	37	chr12	14578311	14578311	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	aagaaagtagtgagagtttgCcaaaagaagcctttctggtc	14	10	11	6	0	1	3	0	1	1	3	2	4	1	3	2	1	2	2	2	1	6	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:14578311C>T	ENST00000540793.1	+	1	1617	c.1462C>T	c.(1462-1464)Cca>Tca	p.P488S	ATF7IP_ENST00000544627.1_Missense_Mutation_p.P496S|ATF7IP_ENST00000541654.1_3'UTR|ATF7IP_ENST00000543189.1_Missense_Mutation_p.P488S|ATF7IP_ENST00000261168.4_Missense_Mutation_p.P488S|ATF7IP_ENST00000536444.1_Missense_Mutation_p.P488S			Q6VMQ6	MCAF1_HUMAN	activating transcription factor 7 interacting protein	488	Glu-rich.				DNA methylation (GO:0006306)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of RNA polymerase II transcriptional preinitiation complex assembly (GO:0045898)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	nucleus (GO:0005634)				cervix(1)|endometrium(7)|kidney(5)|large_intestine(10)|liver(2)|lung(22)|ovary(1)|prostate(4)|skin(1)|urinary_tract(1)	54						TGAGAGTTTGCCAAAAGAAGC	0.393																																						ENST00000544627.1																			0				cervix(1)|endometrium(7)|kidney(5)|large_intestine(10)|liver(2)|lung(22)|ovary(1)|prostate(4)|skin(1)|urinary_tract(1)	54						c.(1486-1488)Cca>Tca		activating transcription factor 7 interacting protein							48	50	50					12																	14578311		2203	4300	6503	SO:0001583	missense	55729				DNA methylation|interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|regulation of RNA polymerase II transcriptional preinitiation complex assembly|transcription, DNA-dependent		protein binding	g.chr12:14578311C>T	AJ242978	CCDS8663.1, CCDS66326.1, CCDS66327.1, CCDS73449.1	12p13.1	2005-11-18				ENSG00000171681			20092	protein-coding gene	gene with protein product		613644				10976766, 10777215	Standard	XM_005253424		Approved	FLJ10688, p621	uc001rbw.3	Q6VMQ6		ENST00000540793.1:c.1462C>T	12.37:g.14578311C>T	ENSP00000444589:p.Pro488Ser					ATF7IP_ENST00000543189.1_Missense_Mutation_p.P488S|ATF7IP_ENST00000536444.1_Missense_Mutation_p.P488S|ATF7IP_ENST00000541654.1_3'UTR|ATF7IP_ENST00000540793.1_Missense_Mutation_p.P488S|ATF7IP_ENST00000261168.4_Missense_Mutation_p.P488S	p.P496S			Q6VMQ6	MCAF1_HUMAN			2	1806	+			488			Glu-rich.		F5GX74|G3V1U0|Q4G0T9|Q6P3T3|Q86XW5|Q9NVJ9|Q9NWC2|Q9Y4X8	Missense_Mutation	SNP	ENST00000540793.1	37	c.1486C>T	CCDS8663.1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.436767	0.83885	.	.	ENSG00000171681	ENST00000261168;ENST00000543189;ENST00000536444;ENST00000544627;ENST00000396279;ENST00000540793	T;T;T;T;T;T	0.64618	1.68;1.66;1.68;1.67;-0.11;1.68	5.39	5.39	0.77823	.	0.000000	0.56097	D	0.000027	T	0.77844	0.4191	L	0.59436	1.845	0.50467	D	0.999874	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	0.998;1.0;0.999;0.998;0.998;1.0;1.0	T	0.79142	-0.1925	10	0.87932	D	0	-12.6452	19.52	0.95182	0.0:1.0:0.0:0.0	.	496;488;496;488;488;488;99	B4E2A2;B4DRL6;F5GX74;G3V1U0;Q6VMQ6;Q6VMQ6-2;B3KQF8	.;.;.;.;MCAF1_HUMAN;.;.	S	488;488;488;496;488;488	ENSP00000261168:P488S;ENSP00000443179:P488S;ENSP00000445955:P488S;ENSP00000440440:P496S;ENSP00000379575:P488S;ENSP00000444589:P488S	ENSP00000261168:P488S	P	+	1	0	ATF7IP	14469578	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.312000	0.65792	2.671000	0.90904	0.591000	0.81541	CCA		0.393	ATF7IP-024	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000401400.1	NM_018179		22	41	0	0	0	1	0	22	41					T	14578311	C	T	14578311	3	4	435	1	0	0	0	0	1	0	0	0	1087	739	26	3	1464	3	ATF7IP	12	14578311	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	809796	14578311	119273584	5581	26506											
ATF7IP	55729	broad.mit.edu	37	chr12	14619487	14619487	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gacaaacaaaacaatagatgCttctgtcagtaagaaagcag	19	7	8	7	0	2	2	1	0	1	2	2	3	2	2	0	0	4	3	0	0	7	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:14619487C>A	ENST00000540793.1	+	9	2980	c.2825C>A	c.(2824-2826)gCt>gAt	p.A942D	ATF7IP_ENST00000544627.1_Missense_Mutation_p.A950D|ATF7IP_ENST00000543189.1_Missense_Mutation_p.A941D|ATF7IP_ENST00000261168.4_Missense_Mutation_p.A942D|ATF7IP_ENST00000536444.1_Missense_Mutation_p.A941D			Q6VMQ6	MCAF1_HUMAN	activating transcription factor 7 interacting protein	942					DNA methylation (GO:0006306)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of RNA polymerase II transcriptional preinitiation complex assembly (GO:0045898)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	nucleus (GO:0005634)				cervix(1)|endometrium(7)|kidney(5)|large_intestine(10)|liver(2)|lung(22)|ovary(1)|prostate(4)|skin(1)|urinary_tract(1)	54						ACAATAGATGCTTCTGTCAGT	0.294																																						ENST00000544627.1																			0				cervix(1)|endometrium(7)|kidney(5)|large_intestine(10)|liver(2)|lung(22)|ovary(1)|prostate(4)|skin(1)|urinary_tract(1)	54						c.(2848-2850)gCt>gAt		activating transcription factor 7 interacting protein							84	85	85					12																	14619487		2203	4294	6497	SO:0001583	missense	55729				DNA methylation|interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|regulation of RNA polymerase II transcriptional preinitiation complex assembly|transcription, DNA-dependent		protein binding	g.chr12:14619487C>A	AJ242978	CCDS8663.1, CCDS66326.1, CCDS66327.1, CCDS73449.1	12p13.1	2005-11-18				ENSG00000171681			20092	protein-coding gene	gene with protein product		613644				10976766, 10777215	Standard	XM_005253424		Approved	FLJ10688, p621	uc001rbw.3	Q6VMQ6		ENST00000540793.1:c.2825C>A	12.37:g.14619487C>A	ENSP00000444589:p.Ala942Asp					ATF7IP_ENST00000543189.1_Missense_Mutation_p.A941D|ATF7IP_ENST00000536444.1_Missense_Mutation_p.A941D|ATF7IP_ENST00000540793.1_Missense_Mutation_p.A942D|ATF7IP_ENST00000261168.4_Missense_Mutation_p.A942D	p.A950D			Q6VMQ6	MCAF1_HUMAN			10	3169	+			942					F5GX74|G3V1U0|Q4G0T9|Q6P3T3|Q86XW5|Q9NVJ9|Q9NWC2|Q9Y4X8	Missense_Mutation	SNP	ENST00000540793.1	37	c.2849C>A	CCDS8663.1	.	.	.	.	.	.	.	.	.	.	C	10.54	1.377545	0.24944	.	.	ENSG00000171681	ENST00000261168;ENST00000543189;ENST00000536444;ENST00000544627;ENST00000540793	T;T;T;T;T	0.18960	2.18;2.19;2.18;2.18;2.18	5.78	4.9	0.64082	.	0.622226	0.15999	N	0.234386	T	0.19725	0.0474	L	0.36672	1.1	0.32684	N	0.515126	B;B;B;B	0.30281	0.275;0.275;0.039;0.039	B;B;B;B	0.30782	0.12;0.12;0.046;0.064	T	0.18587	-1.0332	10	0.59425	D	0.04	-4.1519	13.0255	0.58812	0.0:0.9246:0.0:0.0754	.	941;942;941;553	G3V1U0;Q6VMQ6;Q6VMQ6-2;B3KQF8	.;MCAF1_HUMAN;.;.	D	942;941;941;950;942	ENSP00000261168:A942D;ENSP00000443179:A941D;ENSP00000445955:A941D;ENSP00000440440:A950D;ENSP00000444589:A942D	ENSP00000261168:A942D	A	+	2	0	ATF7IP	14510754	0.598000	0.26882	0.981000	0.43875	0.021000	0.10359	0.927000	0.28818	1.429000	0.47314	-0.143000	0.13931	GCT		0.294	ATF7IP-024	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000401400.1	NM_018179		16	33	1	0	2.94398e-08	1	3.10271e-08	16	33					A	14619487	C	A	14619487	3	1	435	1	0	0	0	0	1	0	0	0	1087	797	28	5	2859	5	ATF7IP	12	14619487	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	41176	14619487	119232408	5582	26507											
GUCY2C	2984	broad.mit.edu	37	chr12	14778724	14778724	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	taaagttaagtctgtcagccCtgtccctctctgccttgtac	7	14	7	13	0	3	0	1	0	2	0	5	0	4	0	3	0	3	2	3	0	4	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:14778724C>A	ENST00000261170.3	-	21	2511	c.2375G>T	c.(2374-2376)aGg>aTg	p.R792M		NM_004963.3	NP_004954.2	P25092	GUC2C_HUMAN	guanylate cyclase 2C (heat stable enterotoxin receptor)	792					intracellular signal transduction (GO:0035556)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of cell proliferation (GO:0042127)|response to toxic substance (GO:0009636)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|protein kinase activity (GO:0004672)|toxic substance binding (GO:0015643)			breast(3)|endometrium(7)|kidney(3)|large_intestine(9)|lung(17)|ovary(4)|skin(7)|urinary_tract(1)	51					Linaclotide(DB08890)	TCTGTCAGCCCTGTCCCTCTC	0.448																																						ENST00000261170.3																			0				breast(3)|endometrium(7)|kidney(3)|large_intestine(9)|lung(17)|ovary(4)|skin(7)|urinary_tract(1)	51						c.(2374-2376)aGg>aTg		guanylate cyclase 2C (heat stable enterotoxin receptor)							235	200	212					12																	14778724		2203	4300	6503	SO:0001583	missense	2984				intracellular signal transduction|receptor guanylyl cyclase signaling pathway	integral to membrane	ATP binding|GTP binding|guanylate cyclase activity|protein binding|protein kinase activity|receptor activity	g.chr12:14778724C>A		CCDS8664.1	12p12	2008-08-18			ENSG00000070019	ENSG00000070019			4688	protein-coding gene	gene with protein product		601330		GUC2C		8661067	Standard	NM_004963		Approved	STAR	uc001rcd.3	P25092	OTTHUMG00000168732	ENST00000261170.3:c.2375G>T	12.37:g.14778724C>A	ENSP00000261170:p.Arg792Met						p.R792M	NM_004963.3	NP_004954.2	P25092	GUC2C_HUMAN			21	2511	-			792					B2RMY6	Missense_Mutation	SNP	ENST00000261170.3	37	c.2375G>T	CCDS8664.1	.	.	.	.	.	.	.	.	.	.	C	28.7	4.946380	0.92593	.	.	ENSG00000070019	ENST00000261170	D	0.82803	-1.65	5.35	5.35	0.76521	Adenylyl cyclase class-3/4/guanylyl cyclase (1);	0.000000	0.85682	D	0.000000	D	0.92593	0.7647	M	0.87381	2.88	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.93413	0.6770	10	0.87932	D	0	.	19.4318	0.94772	0.0:1.0:0.0:0.0	.	792	P25092	GUC2C_HUMAN	M	792	ENSP00000261170:R792M	ENSP00000261170:R792M	R	-	2	0	GUCY2C	14669991	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.724000	0.84798	2.668000	0.90789	0.591000	0.81541	AGG		0.448	GUCY2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400835.1			32	52	1	0	9.65021e-13	1	1.04556e-12	32	52					A	14778724	C	A	14778724	3	1	435	1	0	0	0	0	1	0	0	0	6896	681	24	5	874	5	GUCY2C	12	14778724	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	159237	14778724	119073171	5583	26508											
GUCY2C	2984	broad.mit.edu	37	chr12	14804929	14804929	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttctgtttttcagtgaaattAccatcattgtgcttgagatc	9	18	7	7	0	3	2	2	2	1	1	4	3	3	2	1	0	2	2	1	0	2	6			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:14804929A>G	ENST00000261170.3	-	14	1705	c.1569T>C	c.(1567-1569)ggT>ggC	p.G523G		NM_004963.3	NP_004954.2	P25092	GUC2C_HUMAN	guanylate cyclase 2C (heat stable enterotoxin receptor)	523	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				intracellular signal transduction (GO:0035556)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of cell proliferation (GO:0042127)|response to toxic substance (GO:0009636)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|protein kinase activity (GO:0004672)|toxic substance binding (GO:0015643)			breast(3)|endometrium(7)|kidney(3)|large_intestine(9)|lung(17)|ovary(4)|skin(7)|urinary_tract(1)	51					Linaclotide(DB08890)	CAGTGAAATTACCATCATTGT	0.353																																						ENST00000261170.3																			0				breast(3)|endometrium(7)|kidney(3)|large_intestine(9)|lung(17)|ovary(4)|skin(7)|urinary_tract(1)	51						c.(1567-1569)ggT>ggC		guanylate cyclase 2C (heat stable enterotoxin receptor)							223	201	208					12																	14804929		2201	4299	6500	SO:0001819	synonymous_variant	2984				intracellular signal transduction|receptor guanylyl cyclase signaling pathway	integral to membrane	ATP binding|GTP binding|guanylate cyclase activity|protein binding|protein kinase activity|receptor activity	g.chr12:14804929A>G		CCDS8664.1	12p12	2008-08-18			ENSG00000070019	ENSG00000070019			4688	protein-coding gene	gene with protein product		601330		GUC2C		8661067	Standard	NM_004963		Approved	STAR	uc001rcd.3	P25092	OTTHUMG00000168732	ENST00000261170.3:c.1569T>C	12.37:g.14804929A>G							p.G523G	NM_004963.3	NP_004954.2	P25092	GUC2C_HUMAN			14	1705	-			523			Protein kinase.		B2RMY6	Silent	SNP	ENST00000261170.3	37	c.1569T>C	CCDS8664.1																																																																																				0.353	GUCY2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400835.1			22	35	0	0	0	1	0	22	35					G	14804929	A	G	14804929	2	3	435	1	0	0	0	0	0	0	0	1	6896	378	14	4		4	GUCY2C	12	14804929	Silent	SNP	A	TCGA-XK-AAIW-01A-11D-A41K-08	26205	14804929	119046966	5584	26509											
PTPRO	5800	broad.mit.edu	37	chr12	15669723	15669723	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caggaataaaggatttaatgCtctatcctttgggtcctacg	11	13	9	8	1	1	0	0	0	1	0	3	2	3	2	2	3	2	1	2	3	6	6			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:15669723C>A	ENST00000281171.4	+	9	1942	c.1612C>A	c.(1612-1614)Ctc>Atc	p.L538I	PTPRO_ENST00000543886.1_Missense_Mutation_p.L538I|PTPRO_ENST00000348962.2_Missense_Mutation_p.L538I	NM_030667.2	NP_109592.1	Q16827	PTPRO_HUMAN	protein tyrosine phosphatase, receptor type, O	538	Fibronectin type-III 6. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|cell morphogenesis (GO:0000902)|glomerular visceral epithelial cell differentiation (GO:0072112)|glomerulus development (GO:0032835)|lamellipodium assembly (GO:0030032)|monocyte chemotaxis (GO:0002548)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of glomerular filtration (GO:0003105)|negative regulation of neuron projection development (GO:0010977)|negative regulation of retinal ganglion cell axon guidance (GO:0090260)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of glomerular filtration (GO:0003093)|slit diaphragm assembly (GO:0036060)	apical plasma membrane (GO:0016324)|axon (GO:0030424)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	phosphatase activity (GO:0016791)|protein homodimerization activity (GO:0042803)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)|Wnt-protein binding (GO:0017147)			NS(2)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(11)|lung(30)|ovary(2)|prostate(1)|skin(17)|upper_aerodigestive_tract(1)	74		Hepatocellular(102;0.244)				GGATTTAATGCTCTATCCTTT	0.433																																						ENST00000281171.4																			0				NS(2)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(11)|lung(30)|ovary(2)|prostate(1)|skin(17)|upper_aerodigestive_tract(1)	74						c.(1612-1614)Ctc>Atc		protein tyrosine phosphatase, receptor type, O							129	121	124					12																	15669723		2203	4300	6503	SO:0001583	missense	5800					integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr12:15669723C>A	U20489	CCDS8674.1, CCDS8675.1, CCDS44837.1, CCDS53754.1	12p13-p12	2013-02-11			ENSG00000151490	ENSG00000151490		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Fibronectin type III domain containing"	9678	protein-coding gene	gene with protein product	"osteoclastic transmembrane protein-tyrosine phosphatase"	600579				7519601, 7665166, 21722858	Standard	NM_030667		Approved	PTPU2, GLEPP1, PTP-U2, PTP-oc, NPHS6	uc001rcv.2	Q16827	OTTHUMG00000168786	ENST00000281171.4:c.1612C>A	12.37:g.15669723C>A	ENSP00000281171:p.Leu538Ile					PTPRO_ENST00000348962.2_Missense_Mutation_p.L538I|PTPRO_ENST00000543886.1_Missense_Mutation_p.L538I	p.L538I	NM_030667.2	NP_109592.1	Q16827	PTPRO_HUMAN			9	1942	+		Hepatocellular(102;0.244)	538			Fibronectin type-III 6.		A0AV39|Q13101|Q8IYG3|Q9UBF0|Q9UBT5	Missense_Mutation	SNP	ENST00000281171.4	37	c.1612C>A	CCDS8675.1	.	.	.	.	.	.	.	.	.	.	C	18.83	3.708050	0.68615	.	.	ENSG00000151490	ENST00000281171;ENST00000543886;ENST00000348962	T;T;T	0.54279	0.58;0.58;0.58	5.03	5.03	0.67393	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.000000	0.45867	D	0.000339	T	0.44953	0.1318	N	0.24115	0.695	0.80722	D	1	P;P;P	0.47350	0.879;0.807;0.894	B;B;B	0.43950	0.36;0.197;0.437	T	0.35748	-0.9776	10	0.32370	T	0.25	.	18.6083	0.91275	0.0:1.0:0.0:0.0	.	538;538;538	Q16827-2;Q16827;Q8IYG3	.;PTPRO_HUMAN;.	I	538	ENSP00000281171:L538I;ENSP00000444173:L538I;ENSP00000343434:L538I	ENSP00000281171:L538I	L	+	1	0	PTPRO	15560990	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	4.434000	0.59935	2.613000	0.88420	0.632000	0.83419	CTC		0.433	PTPRO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401079.1			35	43	1	0	6.90743e-12	1	7.45315e-12	35	43					A	15669723	C	A	15669723	3	1	435	1	0	0	0	0	1	0	0	0	12809	797	28	5	1646	5	PTPRO	12	15669723	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	864794	15669723	118182172	5585	26510											
PTPRO	5800	broad.mit.edu	37	chr12	15669887	15669887	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	actgtttccttaactgcatcCgtggtaatcttcccttaacc	8	15	5	13	1	1	0	0	0	1	0	4	0	4	0	4	1	3	3	4	1	3	5	rs369419924	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:15669887C>T	ENST00000281171.4	+	9	2106	c.1776C>T	c.(1774-1776)tcC>tcT	p.S592S	PTPRO_ENST00000543886.1_Silent_p.S592S|PTPRO_ENST00000348962.2_Silent_p.S592S	NM_030667.2	NP_109592.1	Q16827	PTPRO_HUMAN	protein tyrosine phosphatase, receptor type, O	592	Fibronectin type-III 6. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|cell morphogenesis (GO:0000902)|glomerular visceral epithelial cell differentiation (GO:0072112)|glomerulus development (GO:0032835)|lamellipodium assembly (GO:0030032)|monocyte chemotaxis (GO:0002548)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of glomerular filtration (GO:0003105)|negative regulation of neuron projection development (GO:0010977)|negative regulation of retinal ganglion cell axon guidance (GO:0090260)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of glomerular filtration (GO:0003093)|slit diaphragm assembly (GO:0036060)	apical plasma membrane (GO:0016324)|axon (GO:0030424)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	phosphatase activity (GO:0016791)|protein homodimerization activity (GO:0042803)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)|Wnt-protein binding (GO:0017147)			NS(2)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(11)|lung(30)|ovary(2)|prostate(1)|skin(17)|upper_aerodigestive_tract(1)	74		Hepatocellular(102;0.244)				TAACTGCATCCGTGGTAATCT	0.368													C|||	2	0.000399361	0	0	5008	,	,		17706	0		0	False		,,,				2504	0.002					ENST00000281171.4																			0				NS(2)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(11)|lung(30)|ovary(2)|prostate(1)|skin(17)|upper_aerodigestive_tract(1)	74						c.(1774-1776)tcC>tcT		protein tyrosine phosphatase, receptor type, O		C	,	1,4405	2.1+/-5.4	0,1,2202	214	179	191		1776,1776	-9.8	0.2	12		191	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	PTPRO	NM_002848.3,NM_030667.2	,	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	,	592/1189,592/1217	15669887	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	5800					integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr12:15669887C>T	U20489	CCDS8674.1, CCDS8675.1, CCDS44837.1, CCDS53754.1	12p13-p12	2013-02-11			ENSG00000151490	ENSG00000151490		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Fibronectin type III domain containing"	9678	protein-coding gene	gene with protein product	"osteoclastic transmembrane protein-tyrosine phosphatase"	600579				7519601, 7665166, 21722858	Standard	NM_030667		Approved	PTPU2, GLEPP1, PTP-U2, PTP-oc, NPHS6	uc001rcv.2	Q16827	OTTHUMG00000168786	ENST00000281171.4:c.1776C>T	12.37:g.15669887C>T						PTPRO_ENST00000348962.2_Silent_p.S592S|PTPRO_ENST00000543886.1_Silent_p.S592S	p.S592S	NM_030667.2	NP_109592.1	Q16827	PTPRO_HUMAN			9	2106	+		Hepatocellular(102;0.244)	592			Fibronectin type-III 6.		A0AV39|Q13101|Q8IYG3|Q9UBF0|Q9UBT5	Silent	SNP	ENST00000281171.4	37	c.1776C>T	CCDS8675.1																																																																																				0.368	PTPRO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401079.1			4	85	0	0	0	1	0	4	85					T	15669887	C	T	15669887	2	4	435	1	0	0	0	0	0	0	0	1	12809	639	23	2		2	PTPRO	12	15669887	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	164	15669887	118182008	5586	26511											
PTPRO	5800	broad.mit.edu	37	chr12	15733025	15733025	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatgaagaggaaggtgcagaCtacatcaatgccaactatat	17	8	9	7	0	1	3	1	1	0	2	1	4	1	4	1	2	4	1	1	2	8	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:15733025C>A	ENST00000281171.4	+	21	3303	c.2973C>A	c.(2971-2973)gaC>gaA	p.D991E	PTPRO_ENST00000542557.1_Missense_Mutation_p.D152E|PTPRO_ENST00000445537.2_Missense_Mutation_p.D180E|PTPRO_ENST00000544244.1_Missense_Mutation_p.D152E|PTPRO_ENST00000442921.2_Missense_Mutation_p.D180E|PTPRO_ENST00000348962.2_Missense_Mutation_p.D963E	NM_030667.2	NP_109592.1	Q16827	PTPRO_HUMAN	protein tyrosine phosphatase, receptor type, O	991	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				axon guidance (GO:0007411)|cell morphogenesis (GO:0000902)|glomerular visceral epithelial cell differentiation (GO:0072112)|glomerulus development (GO:0032835)|lamellipodium assembly (GO:0030032)|monocyte chemotaxis (GO:0002548)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of glomerular filtration (GO:0003105)|negative regulation of neuron projection development (GO:0010977)|negative regulation of retinal ganglion cell axon guidance (GO:0090260)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of glomerular filtration (GO:0003093)|slit diaphragm assembly (GO:0036060)	apical plasma membrane (GO:0016324)|axon (GO:0030424)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	phosphatase activity (GO:0016791)|protein homodimerization activity (GO:0042803)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)|Wnt-protein binding (GO:0017147)			NS(2)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(11)|lung(30)|ovary(2)|prostate(1)|skin(17)|upper_aerodigestive_tract(1)	74		Hepatocellular(102;0.244)				AAGGTGCAGACTACATCAATG	0.388																																						ENST00000281171.4																			0				NS(2)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(11)|lung(30)|ovary(2)|prostate(1)|skin(17)|upper_aerodigestive_tract(1)	74						c.(2971-2973)gaC>gaA		protein tyrosine phosphatase, receptor type, O							62	64	63					12																	15733025		2203	4300	6503	SO:0001583	missense	5800					integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr12:15733025C>A	U20489	CCDS8674.1, CCDS8675.1, CCDS44837.1, CCDS53754.1	12p13-p12	2013-02-11			ENSG00000151490	ENSG00000151490		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Fibronectin type III domain containing"	9678	protein-coding gene	gene with protein product	"osteoclastic transmembrane protein-tyrosine phosphatase"	600579				7519601, 7665166, 21722858	Standard	NM_030667		Approved	PTPU2, GLEPP1, PTP-U2, PTP-oc, NPHS6	uc001rcv.2	Q16827	OTTHUMG00000168786	ENST00000281171.4:c.2973C>A	12.37:g.15733025C>A	ENSP00000281171:p.Asp991Glu					PTPRO_ENST00000348962.2_Missense_Mutation_p.D963E|PTPRO_ENST00000445537.2_Missense_Mutation_p.D180E|PTPRO_ENST00000544244.1_Missense_Mutation_p.D152E|PTPRO_ENST00000542557.1_Missense_Mutation_p.D152E|PTPRO_ENST00000442921.2_Missense_Mutation_p.D180E	p.D991E	NM_030667.2	NP_109592.1	Q16827	PTPRO_HUMAN			21	3303	+		Hepatocellular(102;0.244)	991			Tyrosine-protein phosphatase.		A0AV39|Q13101|Q8IYG3|Q9UBF0|Q9UBT5	Missense_Mutation	SNP	ENST00000281171.4	37	c.2973C>A	CCDS8675.1	.	.	.	.	.	.	.	.	.	.	C	18.69	3.678125	0.68042	.	.	ENSG00000151490	ENST00000281171;ENST00000348962;ENST00000442921;ENST00000542557;ENST00000445537;ENST00000544244	T;T;T;T;T;T	0.16743	2.32;2.32;2.32;2.32;2.32;2.32	4.5	1.69	0.24217	Protein-tyrosine phosphatase, receptor/non-receptor type (4);	0.000000	0.53938	D	0.000046	T	0.42108	0.1188	M	0.88640	2.97	0.52501	D	0.999951	D;D;D	0.89917	1.0;0.999;0.999	D;D;D	0.80764	0.991;0.99;0.994	T	0.37934	-0.9684	10	0.87932	D	0	.	7.9246	0.29867	0.0:0.6:0.0:0.4	.	152;963;991	Q9UBT5;Q16827-2;Q16827	.;.;PTPRO_HUMAN	E	991;963;180;152;180;152	ENSP00000281171:D991E;ENSP00000343434:D963E;ENSP00000404188:D180E;ENSP00000437571:D152E;ENSP00000393449:D180E;ENSP00000439234:D152E	ENSP00000281171:D991E	D	+	3	2	PTPRO	15624292	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	1.394000	0.34509	0.635000	0.30488	-0.137000	0.14449	GAC		0.388	PTPRO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401079.1			17	22	1	0	1.96292e-10	1	2.09789e-10	17	22					A	15733025	C	A	15733025	3	1	435	1	0	0	0	0	1	0	0	0	12809	564	20	5	3055	5	PTPRO	12	15733025	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	63138	15733025	118118870	5587	26512											
STRAP	11171	broad.mit.edu	37	chr12	16053889	16053889	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttctttttacagaagaagatAgtggtgagctggcaaagcca	13	11	11	6	0	1	4	0	1	1	3	1	4	1	4	1	2	3	2	1	2	5	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:16053889A>G	ENST00000419869.2	+	9	1247	c.934A>G	c.(934-936)Agt>Ggt	p.S312G	STRAP_ENST00000025399.6_Missense_Mutation_p.S325G|STRAP_ENST00000538352.1_Missense_Mutation_p.S218G	NM_007178.3	NP_009109.3	Q9Y3F4	STRAP_HUMAN	serine/threonine kinase receptor associated protein	312					maintenance of gastrointestinal epithelium (GO:0030277)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of pathway-restricted SMAD protein phosphorylation (GO:0060394)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|spliceosomal snRNP assembly (GO:0000387)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|SMN complex (GO:0032797)|SMN-Sm protein complex (GO:0034719)	poly(A) RNA binding (GO:0044822)			cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(6)|skin(1)	15		Hepatocellular(102;0.121)				AGAAGAAGATAGTGGTGAGCT	0.363																																						ENST00000419869.2																			0				cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(6)|skin(1)	15						c.(934-936)Agt>Ggt		serine/threonine kinase receptor associated protein							69	66	67					12																	16053889		2203	4300	6503	SO:0001583	missense	11171				mRNA processing|RNA splicing	cell junction|mitochondrion|spliceosomal complex	identical protein binding	g.chr12:16053889A>G	AB024327	CCDS8676.1	12p13.1	2013-01-10			ENSG00000023734	ENSG00000023734		"WD repeat domain containing"	30796	protein-coding gene	gene with protein product	"Unr-interacting protein"	605986					Standard	NM_007178		Approved	UNRIP, pt-wd, MAWD	uc001rdc.4	Q9Y3F4	OTTHUMG00000168791	ENST00000419869.2:c.934A>G	12.37:g.16053889A>G	ENSP00000392270:p.Ser312Gly					STRAP_ENST00000025399.6_Missense_Mutation_p.S325G|STRAP_ENST00000538352.1_Missense_Mutation_p.S218G	p.S312G	NM_007178.3	NP_009109.3	Q9Y3F4	STRAP_HUMAN			9	1247	+		Hepatocellular(102;0.121)	312					B2R5S5|B4DNJ6|Q5TZT4|Q9NTK0|Q9UQC8	Missense_Mutation	SNP	ENST00000419869.2	37	c.934A>G	CCDS8676.1	.	.	.	.	.	.	.	.	.	.	A	11.42	1.634955	0.29068	.	.	ENSG00000023734	ENST00000538352;ENST00000025399;ENST00000419869	T;T;T	0.62105	0.13;0.09;0.05	4.92	3.74	0.42951	.	0.743446	0.14173	N	0.336575	T	0.37517	0.1006	N	0.08118	0	0.26973	N	0.965531	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.13176	-1.0519	10	0.23302	T	0.38	-15.1361	7.7654	0.28976	0.8399:0.0:0.1601:0.0	.	325;312	B4DNJ6;Q9Y3F4	.;STRAP_HUMAN	G	218;325;312	ENSP00000439761:S218G;ENSP00000025399:S325G;ENSP00000392270:S312G	ENSP00000025399:S325G	S	+	1	0	STRAP	15945156	0.994000	0.37717	0.999000	0.59377	0.979000	0.70002	2.256000	0.43231	2.074000	0.62210	0.528000	0.53228	AGT		0.363	STRAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401114.1	NM_007178		15	24	0	0	0	1	0	15	24					G	16053889	A	G	16053889	3	3	435	1	0	0	0	0	1	0	0	0	15325	420	15	4	968	4	STRAP	12	16053889	Missense_Mutation	SNP	A	TCGA-XK-AAIW-01A-11D-A41K-08	320864	16053889	117798006	5588	26513											
STRAP	11171	broad.mit.edu	37	chr12	16055902	16055902	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctttccttcagctcctgatgTtaaggcctgagcgtcaatca	8	13	8	12	1	3	2	3	2	0	0	5	2	5	2	3	1	2	2	3	1	2	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:16055902T>C	ENST00000419869.2	+	10	1356	c.1043T>C	c.(1042-1044)gTt>gCt	p.V348A	STRAP_ENST00000025399.6_Missense_Mutation_p.V361A|STRAP_ENST00000538352.1_Missense_Mutation_p.V254A	NM_007178.3	NP_009109.3	Q9Y3F4	STRAP_HUMAN	serine/threonine kinase receptor associated protein	348					maintenance of gastrointestinal epithelium (GO:0030277)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of pathway-restricted SMAD protein phosphorylation (GO:0060394)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|spliceosomal snRNP assembly (GO:0000387)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|SMN complex (GO:0032797)|SMN-Sm protein complex (GO:0034719)	poly(A) RNA binding (GO:0044822)			cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(6)|skin(1)	15		Hepatocellular(102;0.121)				GCTCCTGATGTTAAGGCCTGA	0.348																																						ENST00000419869.2																			0				cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(6)|skin(1)	15						c.(1042-1044)gTt>gCt		serine/threonine kinase receptor associated protein							81	75	77					12																	16055902		2203	4300	6503	SO:0001583	missense	11171				mRNA processing|RNA splicing	cell junction|mitochondrion|spliceosomal complex	identical protein binding	g.chr12:16055902T>C	AB024327	CCDS8676.1	12p13.1	2013-01-10			ENSG00000023734	ENSG00000023734		"WD repeat domain containing"	30796	protein-coding gene	gene with protein product	"Unr-interacting protein"	605986					Standard	NM_007178		Approved	UNRIP, pt-wd, MAWD	uc001rdc.4	Q9Y3F4	OTTHUMG00000168791	ENST00000419869.2:c.1043T>C	12.37:g.16055902T>C	ENSP00000392270:p.Val348Ala					STRAP_ENST00000025399.6_Missense_Mutation_p.V361A|STRAP_ENST00000538352.1_Missense_Mutation_p.V254A	p.V348A	NM_007178.3	NP_009109.3	Q9Y3F4	STRAP_HUMAN			10	1356	+		Hepatocellular(102;0.121)	348					B2R5S5|B4DNJ6|Q5TZT4|Q9NTK0|Q9UQC8	Missense_Mutation	SNP	ENST00000419869.2	37	c.1043T>C	CCDS8676.1	.	.	.	.	.	.	.	.	.	.	T	12.63	1.995429	0.35226	.	.	ENSG00000023734	ENST00000538352;ENST00000025399;ENST00000419869	T;T;T	0.63744	0.05;0.01;-0.06	4.8	4.8	0.61643	.	0.076315	0.52532	D	0.000061	T	0.42921	0.1224	N	0.08118	0	0.35828	D	0.8251	B;B	0.11235	0.004;0.004	B;B	0.10450	0.005;0.003	T	0.51568	-0.8689	10	0.59425	D	0.04	-19.956	13.0724	0.59070	0.0:0.0:0.0:1.0	.	361;348	B4DNJ6;Q9Y3F4	.;STRAP_HUMAN	A	254;361;348	ENSP00000439761:V254A;ENSP00000025399:V361A;ENSP00000392270:V348A	ENSP00000025399:V361A	V	+	2	0	STRAP	15947169	1.000000	0.71417	0.991000	0.47740	0.805000	0.45488	4.715000	0.61909	2.025000	0.59659	0.533000	0.62120	GTT		0.348	STRAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401114.1	NM_007178		36	62	0	0	0	1	0	36	62					C	16055902	T	C	16055902	3	2	435	1	0	0	0	0	1	0	0	0	15325	1725	60	4	1081	4	STRAP	12	16055902	Missense_Mutation	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	2013	16055902	117795993	5589	26514											
DERA	51071	broad.mit.edu	37	chr12	16109906	16109906	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caaaatacaagtgaatcaccCggcagttctgaggcgtgcgg	12	7	12	10	3	2	2	1	2	1	0	2	2	2	2	1	3	2	2	1	3	5	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:16109906C>T	ENST00000428559.2	+	2	280	c.68C>T	c.(67-69)cCg>cTg	p.P23L	DERA_ENST00000532964.1_Missense_Mutation_p.P23L|DERA_ENST00000526530.1_5'UTR	NM_015954.2	NP_057038.2	Q9Y315	DEOC_HUMAN	deoxyribose-phosphate aldolase (putative)	23					deoxyribonucleoside catabolic process (GO:0046121)|deoxyribonucleotide catabolic process (GO:0009264)|deoxyribose phosphate catabolic process (GO:0046386)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	deoxyribose-phosphate aldolase activity (GO:0004139)			endometrium(1)|large_intestine(2)|lung(3)|skin(1)	7		Hepatocellular(102;0.121)				GTGAATCACCCGGCAGTTCTG	0.418																																						ENST00000428559.2																			0				endometrium(1)|large_intestine(2)|lung(3)|skin(1)	7						c.(67-69)cCg>cTg		deoxyribose-phosphate aldolase (putative)							72	70	71					12																	16109906		1863	4099	5962	SO:0001583	missense	51071				deoxyribonucleoside catabolic process|deoxyribonucleotide catabolic process	cytoplasm	deoxyribose-phosphate aldolase activity|protein binding	g.chr12:16109906C>T	AF132960	CCDS44838.1, CCDS73451.1	12p12.3	2010-06-24	2010-06-24		ENSG00000023697	ENSG00000023697	4.1.2.4		24269	protein-coding gene	gene with protein product			"2-deoxyribose-5-phosphate aldolase homolog (C. elegans)"			12546782	Standard	XM_006719083		Approved	CGI-26, DEOC	uc001rde.3	Q9Y315	OTTHUMG00000165537	ENST00000428559.2:c.68C>T	12.37:g.16109906C>T	ENSP00000416583:p.Pro23Leu					DERA_ENST00000532964.1_Missense_Mutation_p.P23L|DERA_ENST00000526530.1_5'UTR	p.P23L	NM_015954.2	NP_057038.2	Q9Y315	DEOC_HUMAN			2	280	+		Hepatocellular(102;0.121)	23					Q53HN9|Q6PHW2	Missense_Mutation	SNP	ENST00000428559.2	37	c.68C>T	CCDS44838.1	.	.	.	.	.	.	.	.	.	.	C	15.24	2.774140	0.49786	.	.	ENSG00000023697	ENST00000428559;ENST00000531803;ENST00000532964	.	.	.	5.14	5.14	0.70334	.	0.187575	0.48286	D	0.000196	T	0.43100	0.1232	L	0.55990	1.75	0.80722	D	1	P	0.44006	0.824	B	0.29598	0.104	T	0.45279	-0.9272	9	0.27785	T	0.31	-9.0023	16.965	0.86283	0.0:1.0:0.0:0.0	.	23	Q9Y315	DEOC_HUMAN	L	23;44;23	.	ENSP00000416583:P23L	P	+	2	0	DERA	16001173	1.000000	0.71417	0.403000	0.26384	0.955000	0.61496	5.320000	0.65841	2.670000	0.90874	0.655000	0.94253	CCG		0.418	DERA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384731.1	NM_015954		6	19	0	0	0	1	0	6	19					T	16109906	C	T	16109906	3	4	435	1	0	0	0	0	1	0	0	0	4445	652	23	2	74	2	DERA	12	16109906	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	54004	16109906	117741989	5590	26515											
PIK3C2G	5288	broad.mit.edu	37	chr12	18552761	18552761	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttctcaacctttagaggcTcttgggcttttgacttccag	6	17	8	10	0	2	2	1	1	2	1	4	2	3	2	2	2	1	2	2	2	2	8			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:18552761T>C	ENST00000266497.5	+	14	2210	c.2172T>C	c.(2170-2172)gcT>gcC	p.A724A	PIK3C2G_ENST00000538779.1_Silent_p.A765A|PIK3C2G_ENST00000433979.1_Silent_p.A724A			O75747	P3C2G_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 gamma	724	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.				chemotaxis (GO:0006935)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|phosphatidylinositol binding (GO:0035091)|phosphatidylinositol phosphate kinase activity (GO:0016307)			breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	66		Hepatocellular(102;0.194)				CTTTAGAGGCTCTTGGGCTTT	0.388																																						ENST00000433979.1																			0				breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	66						c.(2170-2172)gcT>gcC		phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 gamma							63	62	62					12																	18552761		1836	4087	5923	SO:0001819	synonymous_variant	5288				cell communication|phosphatidylinositol-mediated signaling	membrane|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity	g.chr12:18552761T>C	AJ000008	CCDS44839.1, CCDS73452.1	12p12	2012-07-13	2012-07-13		ENSG00000139144	ENSG00000139144	2.7.1.154		8973	protein-coding gene	gene with protein product		609001	"phosphoinositide-3-kinase, class 2, gamma polypeptide"			9878262	Standard	XM_005253393		Approved		uc001rdt.3	O75747	OTTHUMG00000168841	ENST00000266497.5:c.2172T>C	12.37:g.18552761T>C						PIK3C2G_ENST00000538779.1_Silent_p.A765A|PIK3C2G_ENST00000266497.5_Silent_p.A724A	p.A724A	NM_004570.4	NP_004561.3	O75747	P3C2G_HUMAN			15	2288	+		Hepatocellular(102;0.194)	724					A1L3U0	Silent	SNP	ENST00000266497.5	37	c.2172T>C	CCDS44839.1																																																																																				0.388	PIK3C2G-002	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401316.1	NM_004570		11	11	0	0	0	1	0	11	11					C	18552761	T	C	18552761	2	2	435	1	0	0	0	0	0	0	0	1	11911	1538	54	4		4	PIK3C2G	12	18552761	Silent	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	2442855	18552761	115299134	5591	26516											
PLCZ1	89869	broad.mit.edu	37	chr12	18858171	18858171	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggactctccaaaagtagcctGcaaattgtctgccattactt	11	12	7	11	0	2	0	0	0	2	0	3	1	2	1	3	1	4	2	3	1	5	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:18858171G>A	ENST00000538330.1	-	4	397	c.16C>T	c.(16-18)Cag>Tag	p.Q6*	PLCZ1_ENST00000541695.1_Nonsense_Mutation_p.Q128*|PLCZ1_ENST00000435379.1_Nonsense_Mutation_p.Q70*|PLCZ1_ENST00000539875.1_Nonsense_Mutation_p.Q72*|PLCZ1_ENST00000447925.2_Nonsense_Mutation_p.Q263*|PLCZ1_ENST00000542762.1_5'UTR|PLCZ1_ENST00000266505.7_Nonsense_Mutation_p.Q265*					phospholipase C, zeta 1											NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	31	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)					AAAGTAGCCTGCAAATTGTCT	0.398																																						ENST00000266505.7																			0				NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	31						c.(793-795)Cag>Tag		phospholipase C, zeta 1							141	137	138					12																	18858171		2203	4300	6503	SO:0001587	stop_gained	89869				intracellular signal transduction|lipid catabolic process|multicellular organismal development	nucleus|perinuclear region of cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr12:18858171G>A	AY035866	CCDS8680.1	12p13.31	2013-01-10			ENSG00000139151	ENSG00000139151	3.1.4.11	"EF-hand domain containing"	19218	protein-coding gene	gene with protein product		608075				12117804	Standard	NM_033123		Approved	NYD-SP27, PLCzeta	uc021qvx.2	Q86YW0	OTTHUMG00000168937	ENST00000538330.1:c.16C>T	12.37:g.18858171G>A	ENSP00000445880:p.Gln6*					PLCZ1_ENST00000542762.1_5'UTR|PLCZ1_ENST00000447925.2_Nonsense_Mutation_p.Q263*|PLCZ1_ENST00000539875.1_Nonsense_Mutation_p.Q72*|PLCZ1_ENST00000541695.1_Nonsense_Mutation_p.Q128*|PLCZ1_ENST00000538330.1_Nonsense_Mutation_p.Q6*|PLCZ1_ENST00000435379.1_Nonsense_Mutation_p.Q70*	p.Q265*			Q86YW0	PLCZ1_HUMAN			7	1056	-	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)		265			PI-PLC X-box.			Nonsense_Mutation	SNP	ENST00000538330.1	37	c.793C>T		.	.	.	.	.	.	.	.	.	.	G	26.4	4.735198	0.89482	.	.	ENSG00000139151	ENST00000538330;ENST00000266505;ENST00000447925;ENST00000435379;ENST00000541695;ENST00000539875;ENST00000543242;ENST00000539072	.	.	.	5.06	4.1	0.47936	.	0.544895	0.19388	N	0.115492	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.09843	T	0.71	.	8.1228	0.30982	0.0:0.1707:0.6529:0.1763	.	.	.	.	X	6;265;263;70;128;72;6;92	.	ENSP00000266505:Q265X	Q	-	1	0	PLCZ1	18749438	0.259000	0.24043	0.854000	0.33618	0.311000	0.27955	0.530000	0.23036	2.514000	0.84764	0.557000	0.71058	CAG		0.398	PLCZ1-002	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000401666.3	NM_033123		8	80	0	0	0	1	0	8	80					A	18858171	G	A	18858171	4	1	435	1	0	0	0	0	0	1	0	0	12044	1328	46	3	1069	3	PLCZ1	12	18858171	Nonsense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	305410	18858171	114993724	5592	26517											
CAPZA3	93661	broad.mit.edu	37	chr12	18891971	18891971	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aagccctgagaaaaattctaCgaagggatcttccagtgacc	14	8	9	10	1	2	2	0	2	2	1	3	5	3	3	3	1	2	0	3	1	5	3	rs15547		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:18891971C>T	ENST00000317658.3	+	1	927	c.769C>T	c.(769-771)Cga>Tga	p.R257*	PLCZ1_ENST00000435379.1_5'Flank|PLCZ1_ENST00000539875.1_5'Flank|PLCZ1_ENST00000447925.2_5'Flank|RP11-361I14.2_ENST00000536931.1_RNA|PLCZ1_ENST00000266505.7_5'Flank	NM_033328.2	NP_201585.1	Q96KX2	CAZA3_HUMAN	capping protein (actin filament) muscle Z-line, alpha 3	257					actin cytoskeleton organization (GO:0030036)|actin filament capping (GO:0051693)|spermatid development (GO:0007286)	acrosomal vesicle (GO:0001669)|cortical cytoskeleton (GO:0030863)|F-actin capping protein complex (GO:0008290)|membrane (GO:0016020)|nucleus (GO:0005634)|WASH complex (GO:0071203)				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|prostate(1)	19	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)	Hepatocellular(102;0.194)				AAAAATTCTACGAAGGGATCT	0.408																																						ENST00000317658.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|prostate(1)	19						c.(769-771)Cga>Tga		capping protein (actin filament) muscle Z-line, alpha 3							48	51	50					12																	18891971		2203	4300	6503	SO:0001587	stop_gained	93661				actin cytoskeleton organization|actin filament capping	F-actin capping protein complex	actin binding	g.chr12:18891971C>T	AB053259	CCDS8681.1	12p12.3	2008-02-05			ENSG00000177938	ENSG00000177938			24205	protein-coding gene	gene with protein product		608722				12029070	Standard	NM_033328		Approved	Gsg3, CAPPA3	uc001rdy.3	Q96KX2	OTTHUMG00000169001	ENST00000317658.3:c.769C>T	12.37:g.18891971C>T	ENSP00000326238:p.Arg257*						p.R257*	NM_033328.2	NP_201585.1	Q96KX2	CAZA3_HUMAN			1	927	+	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)	Hepatocellular(102;0.194)	257					Q969J0	Nonsense_Mutation	SNP	ENST00000317658.3	37	c.769C>T	CCDS8681.1	.	.	.	.	.	.	.	.	.	.	C	32	5.162661	0.94727	.	.	ENSG00000177938	ENST00000317658	.	.	.	4.63	3.67	0.42095	.	0.159668	0.40469	N	0.001093	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-14.3769	9.2883	0.37771	0.2794:0.7206:0.0:0.0	rs15547;rs52793612;rs15547	.	.	.	X	257	.	ENSP00000326238:R257X	R	+	1	2	CAPZA3	18783238	0.413000	0.25400	0.997000	0.53966	0.981000	0.71138	0.545000	0.23268	2.415000	0.81967	0.462000	0.41574	CGA		0.408	CAPZA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401902.1	NM_033328		17	36	0	0	0	1	0	17	36					T	18891971	C	T	18891971	4	4	435	1	0	0	0	0	0	1	0	0	2642	528	19	1	771	1	CAPZA3	12	18891971	Nonsense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	33800	18891971	114959924	5593	26518											
AEBP2	121536	broad.mit.edu	37	chr12	19653146	19653146	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagggacacagtgttgttttTcatagtactgtaagtattct	11	16	9	5	0	2	0	1	0	1	0	2	1	2	1	0	1	1	5	0	1	5	8			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:19653146T>C	ENST00000398864.3	+	5	1316	c.1290T>C	c.(1288-1290)ttT>ttC	p.F430F	AEBP2_ENST00000541908.1_Silent_p.F201F|AEBP2_ENST00000360995.4_Silent_p.F214F|AEBP2_ENST00000266508.9_Silent_p.F430F	NM_001114176.1	NP_001107648.1	Q6ZN18	AEBP2_HUMAN	AE binding protein 2	430	Interaction with SUZ12.				chromatin modification (GO:0016568)	ESC/E(Z) complex (GO:0035098)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|transcription corepressor activity (GO:0003714)			ovary(1)	1	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804)|Esophageal squamous(101;0.143)					GTGTTGTTTTTCATAGTACTG	0.308																																						ENST00000266508.9																			0				ovary(1)	1						c.(1288-1290)ttT>ttC		AE binding protein 2							75	68	71					12																	19653146		1831	4073	5904	SO:0001819	synonymous_variant	121536				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex	DNA binding|zinc ion binding	g.chr12:19653146T>C		CCDS44841.1, CCDS44842.1, CCDS58215.1	12p12.3	2012-10-02			ENSG00000139154	ENSG00000139154			24051	protein-coding gene	gene with protein product						10329662	Standard	NM_153207		Approved	MGC17922	uc001ref.2	Q6ZN18	OTTHUMG00000168906	ENST00000398864.3:c.1290T>C	12.37:g.19653146T>C						AEBP2_ENST00000541908.1_Silent_p.F201F|AEBP2_ENST00000398864.3_Silent_p.F430F|AEBP2_ENST00000360995.4_Silent_p.F214F	p.F430F	NM_153207.4	NP_694939.2	Q6ZN18	AEBP2_HUMAN			5	1291	+	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804)|Esophageal squamous(101;0.143)		430			Interaction with SUZ12.		Q59FS5|Q6ZN62|Q96BG3	Silent	SNP	ENST00000398864.3	37	c.1290T>C	CCDS44841.1																																																																																				0.308	AEBP2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000401575.1	NM_153207		4	7	0	0	0	1	0	4	7					C	19653146	T	C	19653146	2	2	435	1	0	0	0	0	0	0	0	1	350	1780	62	4		4	AEBP2	12	19653146	Silent	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	761175	19653146	114198749	5594	26519											
PDE3A	5139	broad.mit.edu	37	chr12	20799802	20799802	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctgccttggagttgatggCgctgtatgtggctgcagcca	5	11	14	11	1	0	1	0	1	0	0	0	2	0	2	3	3	3	5	3	3	1	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:20799802C>T	ENST00000359062.3	+	12	2523	c.2483C>T	c.(2482-2484)gCg>gTg	p.A828V	PDE3A_ENST00000544307.1_3'UTR	NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	Q14432	PDE3A_HUMAN	phosphodiesterase 3A, cGMP-inhibited	828	Catalytic. {ECO:0000250}.				blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cAMP-mediated signaling (GO:0019933)|cellular response to cGMP (GO:0071321)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cGMP-mediated signaling (GO:0019934)|diterpenoid metabolic process (GO:0016101)|lipid metabolic process (GO:0006629)|negative regulation of apoptotic process (GO:0043066)|negative regulation of vascular permeability (GO:0043116)|oocyte maturation (GO:0001556)|positive regulation of oocyte development (GO:0060282)|positive regulation of vascular permeability (GO:0043117)|regulation of meiosis (GO:0040020)|response to cAMP (GO:0051591)|response to drug (GO:0042493)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|cAMP binding (GO:0030552)|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity (GO:0004119)|metal ion binding (GO:0046872)			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Caffeine(DB00201)|Cilostazol(DB01166)|Enoximone(DB04880)|Ibudilast(DB05266)|Levosimendan(DB00922)|Milrinone(DB00235)|Oxtriphylline(DB01303)|Theophylline(DB00277)|Tofisopam(DB08811)	GAGTTGATGGCGCTGTATGTG	0.428																																						ENST00000359062.3																			0				NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58						c.(2482-2484)gCg>gTg		phosphodiesterase 3A, cGMP-inhibited	Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277)						181	170	173					12																	20799802		2203	4300	6503	SO:0001583	missense	5139				lipid metabolic process|platelet activation|signal transduction	cytosol|integral to membrane	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding	g.chr12:20799802C>T		CCDS31754.1	12p12.2	2011-04-15			ENSG00000172572	ENSG00000172572	3.1.4.17	"Phosphodiesterases"	8778	protein-coding gene	gene with protein product		123805				1315035, 10679291	Standard	NM_000921		Approved	CGI-PDE	uc001reh.2	Q14432	OTTHUMG00000168962	ENST00000359062.3:c.2483C>T	12.37:g.20799802C>T	ENSP00000351957:p.Ala828Val					PDE3A_ENST00000544307.1_3'UTR	p.A828V	NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	Q14432	PDE3A_HUMAN			12	2523	+	Esophageal squamous(101;0.125)	Breast(259;0.134)	828			Catalytic (By similarity).		O60865|Q13348|Q17RD1	Missense_Mutation	SNP	ENST00000359062.3	37	c.2483C>T	CCDS31754.1	.	.	.	.	.	.	.	.	.	.	C	35	5.465497	0.96257	.	.	ENSG00000172572	ENST00000359062	T	0.80994	-1.44	5.85	5.85	0.93711	Metal-dependent phosphohydrolase, HD domain (1);5&apos (2);-cyclic nucleotide phosphodiesterase, catalytic domain (2);3&apos (2);	0.049689	0.85682	D	0.000000	D	0.90779	0.7105	M	0.81497	2.545	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.91056	0.4882	10	0.87932	D	0	.	20.1612	0.98133	0.0:1.0:0.0:0.0	.	828	Q14432	PDE3A_HUMAN	V	828	ENSP00000351957:A828V	ENSP00000351957:A828V	A	+	2	0	PDE3A	20691069	1.000000	0.71417	0.969000	0.41365	0.962000	0.63368	7.391000	0.79828	2.766000	0.95052	0.643000	0.83706	GCG		0.428	PDE3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401756.2			28	73	0	0	0	1	0	28	73					T	20799802	C	T	20799802	3	4	435	1	0	0	0	0	1	0	0	0	11637	768	27	1	2529	1	PDE3A	12	20799802	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	1146656	20799802	113052093	5595	26520											
PDE3A	5139	broad.mit.edu	37	chr12	20807127	20807127	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aagaggaaacctgtgaaaatAatgaatctccaagtaagttc	18	9	8	6	0	1	3	0	2	1	1	3	4	1	4	2	1	1	2	2	1	8	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:20807127A>G	ENST00000359062.3	+	15	3212	c.3172A>G	c.(3172-3174)Aat>Gat	p.N1058D	PDE3A_ENST00000544307.1_3'UTR	NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	Q14432	PDE3A_HUMAN	phosphodiesterase 3A, cGMP-inhibited	1058	Catalytic. {ECO:0000250}.				blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cAMP-mediated signaling (GO:0019933)|cellular response to cGMP (GO:0071321)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cGMP-mediated signaling (GO:0019934)|diterpenoid metabolic process (GO:0016101)|lipid metabolic process (GO:0006629)|negative regulation of apoptotic process (GO:0043066)|negative regulation of vascular permeability (GO:0043116)|oocyte maturation (GO:0001556)|positive regulation of oocyte development (GO:0060282)|positive regulation of vascular permeability (GO:0043117)|regulation of meiosis (GO:0040020)|response to cAMP (GO:0051591)|response to drug (GO:0042493)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|cAMP binding (GO:0030552)|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity (GO:0004119)|metal ion binding (GO:0046872)			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Caffeine(DB00201)|Cilostazol(DB01166)|Enoximone(DB04880)|Ibudilast(DB05266)|Levosimendan(DB00922)|Milrinone(DB00235)|Oxtriphylline(DB01303)|Theophylline(DB00277)|Tofisopam(DB08811)	CTGTGAAAATAATGAATCTCC	0.383																																						ENST00000359062.3																			0				NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58						c.(3172-3174)Aat>Gat		phosphodiesterase 3A, cGMP-inhibited	Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277)						94	97	96					12																	20807127		2203	4300	6503	SO:0001583	missense	5139				lipid metabolic process|platelet activation|signal transduction	cytosol|integral to membrane	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding	g.chr12:20807127A>G		CCDS31754.1	12p12.2	2011-04-15			ENSG00000172572	ENSG00000172572	3.1.4.17	"Phosphodiesterases"	8778	protein-coding gene	gene with protein product		123805				1315035, 10679291	Standard	NM_000921		Approved	CGI-PDE	uc001reh.2	Q14432	OTTHUMG00000168962	ENST00000359062.3:c.3172A>G	12.37:g.20807127A>G	ENSP00000351957:p.Asn1058Asp					PDE3A_ENST00000544307.1_3'UTR	p.N1058D	NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	Q14432	PDE3A_HUMAN			15	3212	+	Esophageal squamous(101;0.125)	Breast(259;0.134)	1058			Catalytic (By similarity).		O60865|Q13348|Q17RD1	Missense_Mutation	SNP	ENST00000359062.3	37	c.3172A>G	CCDS31754.1	.	.	.	.	.	.	.	.	.	.	A	8.653	0.898804	0.17686	.	.	ENSG00000172572	ENST00000359062	T	0.76968	-1.06	5.11	2.47	0.30058	.	1.583420	0.03387	N	0.201239	T	0.60248	0.2254	N	0.17723	0.515	0.09310	N	1	B	0.25007	0.116	B	0.18561	0.022	T	0.50250	-0.8850	10	0.09338	T	0.73	.	3.9206	0.09242	0.5478:0.1877:0.2645:0.0	.	1058	Q14432	PDE3A_HUMAN	D	1058	ENSP00000351957:N1058D	ENSP00000351957:N1058D	N	+	1	0	PDE3A	20698394	0.073000	0.21202	0.675000	0.29917	0.830000	0.47004	0.882000	0.28186	0.911000	0.36747	0.533000	0.62120	AAT		0.383	PDE3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401756.2			6	41	0	0	0	1	0	6	41					G	20807127	A	G	20807127	3	3	435	1	0	0	0	0	1	0	0	0	11637	362	13	4	3230	4	PDE3A	12	20807127	Missense_Mutation	SNP	A	TCGA-XK-AAIW-01A-11D-A41K-08	7325	20807127	113044768	5596	26521											
SLCO1B3	28234	broad.mit.edu	37	chr12	21030809	21030809	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tttattggttcttttacttaCgtctttaaatatatggagca	10	20	6	5	1	2	0	0	0	2	0	2	1	2	1	0	2	3	2	0	2	7	11	rs145036538		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:21030809C>T	ENST00000381545.3	+	10	1293	c.1074C>T	c.(1072-1074)taC>taT	p.Y358Y	LST3_ENST00000540229.1_Silent_p.Y358Y|SLCO1B3_ENST00000261196.2_Silent_p.Y358Y|SLCO1B3_ENST00000553473.1_Silent_p.Y358Y|LST3_ENST00000381541.3_Intron|SLCO1B7_ENST00000554957.1_Intron	NM_019844.3	NP_062818.1	Q9NPD5	SO1B3_HUMAN	solute carrier organic anion transporter family, member 1B3	358					bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|organic anion transport (GO:0015711)|small molecule metabolic process (GO:0044281)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	organic anion transmembrane transporter activity (GO:0008514)			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2)	63	Esophageal squamous(101;0.149)				Atorvastatin(DB01076)|Cabazitaxel(DB06772)|Caspofungin(DB00520)|Conjugated Estrogens(DB00286)|Dabrafenib(DB08912)|Digoxin(DB00390)|Docetaxel(DB01248)|Estradiol(DB00783)|Fexofenadine(DB00950)|Fluvastatin(DB01095)|Gadoxetate(DB08884)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)|Methotrexate(DB00563)|Mycophenolate mofetil(DB00688)|Olmesartan(DB00275)|Ouabain(DB01092)|Paclitaxel(DB01229)|Pioglitazone(DB01132)|Pitavastatin(DB08860)|Pravastatin(DB00175)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Rosuvastatin(DB01098)|Valsartan(DB00177)	CTTTTACTTACGTCTTTAAAT	0.338													.|||	1	0.000199681	0	0	5008	,	,		12809	0		0	False		,,,				2504	0.001					ENST00000381545.3																			0				breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2)	63						c.(1072-1074)taC>taT		solute carrier organic anion transporter family, member 1B3		C		0,4406		0,0,2203	136	135	135		1074	-4	0	12	dbSNP_134	135	1,8597		0,1,4298	no	coding-synonymous	SLCO1B3	NM_019844.2		0,1,6501	TT,TC,CC		0.0116,0.0,0.0077		358/703	21030809	1,13003	2203	4299	6502	SO:0001819	synonymous_variant	28234				bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|cytoplasm|integral to plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity	g.chr12:21030809C>T		CCDS8684.1	12p12	2013-05-22	2003-11-25	2003-11-26		ENSG00000111700		"Solute carriers"	10961	protein-coding gene	gene with protein product		605495	"solute carrier family 21 (organic anion transporter), member 8"	SLC21A8			Standard	NM_019844		Approved	OATP8, OATP1B3	uc001rel.4	Q9NPD5	OTTHUMG00000169011	ENST00000381545.3:c.1074C>T	12.37:g.21030809C>T						LST3_ENST00000381541.3_Intron|LST3_ENST00000540229.1_Silent_p.Y358Y|SLCO1B3_ENST00000261196.2_Silent_p.Y358Y|SLCO1B3_ENST00000553473.1_Silent_p.Y358Y|SLCO1B7_ENST00000554957.1_Intron	p.Y358Y	NM_019844.3	NP_062818.1	Q9NPD5	SO1B3_HUMAN			10	1293	+	Esophageal squamous(101;0.149)		358					E7EMT8|Q5JAR4	Silent	SNP	ENST00000381545.3	37	c.1074C>T	CCDS8684.1																																																																																				0.338	SLCO1B3-001	KNOWN	upstream_ATG|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000401936.1	NM_019844		34	48	0	0	0	1	0	34	48					T	21030809	C	T	21030809	2	4	435	1	0	0	0	0	0	0	0	1	14724	547	19	1		1	SLCO1B3	12	21030809	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	223682	21030809	112821086	5597	26522											
SLCO1A2	6579	broad.mit.edu	37	chr12	21445155	21445155	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aataaatgaaactgctcatcGctgacaagattaggaagtac	17	9	8	7	1	1	3	1	2	0	1	2	4	1	4	0	1	3	3	0	1	8	3	rs377061804		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:21445155G>A	ENST00000307378.6	-	13	2273	c.1553C>T	c.(1552-1554)gCg>gTg	p.A518V	SLCO1A2_ENST00000390670.3_Missense_Mutation_p.A516V|SLCO1A2_ENST00000537524.1_Missense_Mutation_p.A386V|SLCO1A2_ENST00000458504.1_Missense_Mutation_p.A386V|SLCO1A2_ENST00000452078.1_Missense_Mutation_p.A518V	NM_134431.3	NP_602307.1	P46721	SO1A2_HUMAN	solute carrier organic anion transporter family, member 1A2	518					bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|organic anion transport (GO:0015711)|small molecule metabolic process (GO:0044281)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	organic anion transmembrane transporter activity (GO:0008514)			breast(2)|endometrium(2)|kidney(4)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(6)|upper_aerodigestive_tract(1)	48					Aminohippurate(DB00345)|Atorvastatin(DB01076)|Bumetanide(DB00887)|Chlorambucil(DB00291)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Dexamethasone(DB01234)|Digitoxin(DB01396)|Digoxin(DB00390)|Dinoprostone(DB00917)|Enalapril(DB00584)|Erythromycin(DB00199)|Estradiol(DB00783)|Estriol(DB04573)|Estrone(DB00655)|Fexofenadine(DB00950)|Glyburide(DB01016)|Hydrocortisone(DB00741)|Ibuprofen(DB01050)|Indinavir(DB00224)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Ketoprofen(DB01009)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)|Lovastatin(DB00227)|Methotrexate(DB00563)|Methyltestosterone(DB06710)|Mirabegron(DB08893)|Naloxone(DB01183)|Naproxen(DB00788)|Nelfinavir(DB00220)|Ouabain(DB01092)|Pravastatin(DB00175)|Prednisolone(DB00860)|Prednisone(DB00635)|Probenecid(DB01032)|Quinidine(DB00908)|Quinine(DB00468)|Rifampicin(DB01045)|Ritonavir(DB00503)|Rocuronium(DB00728)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Simvastatin(DB00641)|Spironolactone(DB00421)|Sumatriptan(DB00669)|Tauroursodeoxycholic acid(DB08834)|Testosterone(DB00624)|Tolbutamide(DB01124)|Ursodeoxycholic acid(DB01586)|Verapamil(DB00661)	ACTGCTCATCGCTGACAAGAT	0.383																																						ENST00000307378.6																			0				breast(2)|endometrium(2)|kidney(4)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(6)|upper_aerodigestive_tract(1)	48						c.(1552-1554)gCg>gTg		solute carrier organic anion transporter family, member 1A2		G	VAL/ALA,VAL/ALA	0,4406		0,0,2203	56	54	55		1553,1553	-0.1	0	12		55	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	SLCO1A2	NM_021094.3,NM_134431.3	64,64	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign,benign	518/671,518/671	21445155	1,13005	2203	4300	6503	SO:0001583	missense	6579				bile acid metabolic process|sodium-independent organic anion transport	integral to membrane|plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity	g.chr12:21445155G>A		CCDS8686.1	12p12	2013-05-22	2003-11-25	2003-11-26	ENSG00000084453	ENSG00000084453		"Solute carriers"	10956	protein-coding gene	gene with protein product		602883	"solute carrier family 21 (organic anion transporter), member 3"	SLC21A3		9007731	Standard	NM_134431		Approved	OATP, OATP1A2, OATP-A	uc001rer.3	P46721	OTTHUMG00000156259	ENST00000307378.6:c.1553C>T	12.37:g.21445155G>A	ENSP00000305974:p.Ala518Val					SLCO1A2_ENST00000452078.1_Missense_Mutation_p.A518V|SLCO1A2_ENST00000390670.3_Missense_Mutation_p.A516V|SLCO1A2_ENST00000458504.1_Missense_Mutation_p.A386V|SLCO1A2_ENST00000537524.1_Missense_Mutation_p.A386V	p.A518V	NM_134431.3	NP_602307.1	P46721	SO1A2_HUMAN			13	2273	-			518					Q9UGP7|Q9UL38	Missense_Mutation	SNP	ENST00000307378.6	37	c.1553C>T	CCDS8686.1	.	.	.	.	.	.	.	.	.	.	G	0.004	-2.314027	0.00235	0.0	1.16E-4	ENSG00000084453	ENST00000307378;ENST00000452078;ENST00000458504;ENST00000537524;ENST00000390670	T;T;T;T;T	0.58506	0.33;0.33;0.33;0.33;1.11	5.09	-0.0963	0.13637	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	1.258880	0.05315	N	0.525559	T	0.18800	0.0451	N	0.00399	-1.545	0.09310	N	1	B;B	0.09022	0.002;0.001	B;B	0.06405	0.002;0.002	T	0.32508	-0.9904	10	0.02654	T	1	.	5.2803	0.15673	0.5121:0.1531:0.3348:0.0	.	516;518	P46721-2;P46721	.;SO1A2_HUMAN	V	518;518;386;386;516	ENSP00000305974:A518V;ENSP00000393973:A518V;ENSP00000394854:A386V;ENSP00000439401:A386V;ENSP00000375088:A516V	ENSP00000305974:A518V	A	-	2	0	SLCO1A2	21336422	0.002000	0.14202	0.000000	0.03702	0.001000	0.01503	1.550000	0.36223	-0.195000	0.10382	-0.300000	0.09419	GCG		0.383	SLCO1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343648.3	NM_021094		15	17	0	0	0	1	0	15	17					A	21445155	G	A	21445155	3	1	435	1	0	0	0	0	1	0	0	0	14722	1087	38	1	475	1	SLCO1A2	12	21445155	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	414346	21445155	112406740	5598	26523											
LDHB	3945	broad.mit.edu	37	chr12	21790097	21790097	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	taatccaatagcccagttggTatatccttttagcttgatga	11	15	7	8	0	0	2	0	2	0	0	2	2	2	2	3	1	2	3	3	1	6	8			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:21790097T>C	ENST00000396076.1	-	7	1077	c.745A>G	c.(745-747)Acc>Gcc	p.T249A	LDHB_ENST00000350669.1_Missense_Mutation_p.T249A	NM_001174097.1	NP_001167568.1	P07195	LDHB_HUMAN	lactate dehydrogenase B	249					cellular carbohydrate metabolic process (GO:0044262)|cellular metabolic process (GO:0044237)|lactate metabolic process (GO:0006089)|NAD metabolic process (GO:0019674)|pyruvate metabolic process (GO:0006090)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)	L-lactate dehydrogenase activity (GO:0004459)|NAD binding (GO:0051287)			breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	26						GCCCAGTTGGTATATCCTTTT	0.348																																						ENST00000396076.1																			0				breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	26						c.(745-747)Acc>Gcc		lactate dehydrogenase B	NADH(DB00157)						100	102	101					12																	21790097		2203	4299	6502	SO:0001583	missense	3945				glycolysis|pyruvate metabolic process	cytosol	L-lactate dehydrogenase activity	g.chr12:21790097T>C		CCDS8691.1	12p12.2-p12.1	2012-10-02			ENSG00000111716	ENSG00000111716	1.1.1.27		6541	protein-coding gene	gene with protein product		150100					Standard	NM_002300		Approved		uc001rfe.3	P07195	OTTHUMG00000133760	ENST00000396076.1:c.745A>G	12.37:g.21790097T>C	ENSP00000379386:p.Thr249Ala					LDHB_ENST00000350669.1_Missense_Mutation_p.T249A	p.T249A	NM_001174097.1	NP_001167568.1	P07195	LDHB_HUMAN			7	1077	-			249						Missense_Mutation	SNP	ENST00000396076.1	37	c.745A>G	CCDS8691.1	.	.	.	.	.	.	.	.	.	.	T	21.6	4.178393	0.78564	.	.	ENSG00000111716	ENST00000396076;ENST00000350669	T;T	0.63255	-0.03;-0.03	4.77	4.77	0.60923	Lactate/malate dehydrogenase, C-terminal (1);Lactate dehydrogenase/glycoside hydrolase, family 4, C-terminal (2);	0.045380	0.85682	D	0.000000	T	0.76328	0.3972	M	0.92122	3.275	0.80722	D	1	P	0.45715	0.865	P	0.48030	0.564	T	0.83279	-0.0039	10	0.72032	D	0.01	.	14.5034	0.67737	0.0:0.0:0.0:1.0	.	249	P07195	LDHB_HUMAN	A	249	ENSP00000379386:T249A;ENSP00000229319:T249A	ENSP00000229319:T249A	T	-	1	0	LDHB	21681364	1.000000	0.71417	0.737000	0.30932	0.925000	0.55904	7.851000	0.86920	2.026000	0.59711	0.397000	0.26171	ACC		0.348	LDHB-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258220.2	NM_002300		26	57	0	0	0	1	0	26	57					C	21790097	T	C	21790097	3	2	435	1	0	0	0	0	1	0	0	0	8701	1638	57	4	267	4	LDHB	12	21790097	Missense_Mutation	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	344942	21790097	112061798	5599	26524											
CMAS	55907	broad.mit.edu	37	chr12	22208195	22208195	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acagctctacctcactagatGccatcatagaatttcttaat	13	13	4	11	0	4	2	2	0	2	2	4	2	4	2	2	0	3	1	2	0	5	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:22208195G>A	ENST00000229329.2	+	2	503	c.373G>A	c.(373-375)Gcc>Acc	p.A125T		NM_018686.4	NP_061156.1	Q8NFW8	NEUA_HUMAN	cytidine monophosphate N-acetylneuraminic acid synthetase	125					lipopolysaccharide biosynthetic process (GO:0009103)|N-acetylneuraminate metabolic process (GO:0006054)	membrane (GO:0016020)|nucleus (GO:0005634)	N-acylneuraminate cytidylyltransferase activity (GO:0008781)			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	24						CTCACTAGATGCCATCATAGA	0.318																																						ENST00000229329.2																			0				autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	24						c.(373-375)Gcc>Acc		cytidine monophosphate N-acetylneuraminic acid synthetase							64	63	64					12																	22208195		2203	4300	6503	SO:0001583	missense	55907				lipopolysaccharide biosynthetic process	nucleus	N-acylneuraminate cytidylyltransferase activity	g.chr12:22208195G>A	AF271388	CCDS8696.1	12p12.1	2008-08-04			ENSG00000111726	ENSG00000111726			18290	protein-coding gene	gene with protein product	"CMP-Neu5Ac synthetase"	603316				8889549, 7566098	Standard	NM_018686		Approved		uc001rfm.4	Q8NFW8	OTTHUMG00000169097	ENST00000229329.2:c.373G>A	12.37:g.22208195G>A	ENSP00000229329:p.Ala125Thr						p.A125T	NM_018686.4	NP_061156.1	Q8NFW8	NEUA_HUMAN			2	503	+			125					Q96AX5|Q9NQZ0	Missense_Mutation	SNP	ENST00000229329.2	37	c.373G>A	CCDS8696.1	.	.	.	.	.	.	.	.	.	.	G	13.06	2.125021	0.37533	.	.	ENSG00000111726	ENST00000229329	.	.	.	5.54	5.54	0.83059	.	0.063058	0.64402	D	0.000004	T	0.36717	0.0977	N	0.12831	0.26	0.42729	D	0.993706	B	0.15719	0.014	B	0.22386	0.039	T	0.24584	-1.0156	9	0.07482	T	0.82	-16.9595	13.0369	0.58877	0.0768:0.0:0.9232:0.0	.	125	Q8NFW8	NEUA_HUMAN	T	125	.	ENSP00000229329:A125T	A	+	1	0	CMAS	22099462	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.841000	0.55850	2.597000	0.87782	0.591000	0.81541	GCC		0.318	CMAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402235.1	NM_018686		21	27	0	0	0	1	0	21	27					A	22208195	G	A	22208195	3	1	435	1	0	0	0	0	1	0	0	0	3575	1319	46	3	379	3	CMAS	12	22208195	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	418098	22208195	111643700	5600	26525											
SOX5	6660	broad.mit.edu	37	chr12	23687439	23687439	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	caacaccagcagtggcaatgGggatctgtgcttgttgcctg	8	10	13	10	0	1	0	0	0	1	0	1	1	1	1	2	3	4	4	2	3	2	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:23687439G>A	ENST00000451604.2	-	15	2107	c.2006C>T	c.(2005-2007)cCc>cTc	p.P669L	SOX5_ENST00000396007.2_Missense_Mutation_p.P283L|SOX5_ENST00000541536.1_Missense_Mutation_p.P548L|SOX5_ENST00000309359.1_Missense_Mutation_p.P656L|SOX5_ENST00000545921.1_Missense_Mutation_p.P659L|SOX5_ENST00000537393.1_Missense_Mutation_p.P634L|SOX5_ENST00000546136.1_Missense_Mutation_p.P656L|SOX5_ENST00000381381.2_Missense_Mutation_p.P548L			P35711	SOX5_HUMAN	SRY (sex determining region Y)-box 5	669					cartilage development (GO:0051216)|cell fate commitment (GO:0045165)|cellular response to transforming growth factor beta stimulus (GO:0071560)|central nervous system neuron differentiation (GO:0021953)|in utero embryonic development (GO:0001701)|negative regulation of transcription, DNA-templated (GO:0045892)|oligodendrocyte differentiation (GO:0048709)|positive regulation of cartilage development (GO:0061036)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of mesenchymal stem cell differentiation (GO:2000741)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of timing of neuron differentiation (GO:0060164)|transcription from RNA polymerase II promoter (GO:0006366)	nuclear transcription factor complex (GO:0044798)	sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(25)|ovary(5)|skin(2)|upper_aerodigestive_tract(3)	57						AGTGGCAATGGGGATCTGTGC	0.502																																						ENST00000546136.1																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(25)|ovary(5)|skin(2)|upper_aerodigestive_tract(3)	57						c.(1966-1968)cCc>cTc		SRY (sex determining region Y)-box 5							53	47	49					12																	23687439		2203	4300	6503	SO:0001583	missense	6660				transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr12:23687439G>A	AB081589	CCDS8699.1, CCDS41761.1, CCDS44844.1, CCDS58216.1, CCDS58217.1	12p12.1	2010-04-20			ENSG00000134532	ENSG00000134532		"SRY (sex determining region Y)-boxes"	11201	protein-coding gene	gene with protein product		604975				8812465	Standard	NM_006940		Approved	L-SOX5, MGC35153	uc001rfw.3	P35711	OTTHUMG00000169026	ENST00000451604.2:c.2006C>T	12.37:g.23687439G>A	ENSP00000398273:p.Pro669Leu					SOX5_ENST00000545921.1_Missense_Mutation_p.P659L|SOX5_ENST00000381381.2_Missense_Mutation_p.P548L|SOX5_ENST00000451604.2_Missense_Mutation_p.P669L|SOX5_ENST00000541536.1_Missense_Mutation_p.P548L|SOX5_ENST00000537393.1_Missense_Mutation_p.P634L|SOX5_ENST00000396007.2_Missense_Mutation_p.P283L|SOX5_ENST00000309359.1_Missense_Mutation_p.P656L	p.P656L			P35711	SOX5_HUMAN			14	1969	-			669					B7Z8V0|F5H5B0|Q86UK8|Q8J017|Q8J018|Q8J019|Q8J020|Q8N1D9|Q8N7E0|Q8TEA4	Missense_Mutation	SNP	ENST00000451604.2	37	c.1967C>T	CCDS8699.1	.	.	.	.	.	.	.	.	.	.	G	20.5	4.001039	0.74818	.	.	ENSG00000134532	ENST00000546136;ENST00000309359;ENST00000381381;ENST00000451604;ENST00000537393;ENST00000541536;ENST00000396007;ENST00000545921	T;T;T;T;T;T;T;T	0.52983	0.64;0.64;0.64;0.64;0.64;0.64;0.64;0.64	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	T	0.68485	0.3006	M	0.64997	1.995	0.80722	D	1	D;D;P	0.76494	0.999;0.972;0.835	D;P;P	0.78314	0.991;0.715;0.628	T	0.68420	-0.5413	10	0.66056	D	0.02	.	20.1253	0.97977	0.0:0.0:1.0:0.0	.	548;669;283	P35711-4;P35711;P35711-3	.;SOX5_HUMAN;.	L	656;656;548;669;634;548;283;659	ENSP00000437487:P656L;ENSP00000308927:P656L;ENSP00000370788:P548L;ENSP00000398273:P669L;ENSP00000439832:P634L;ENSP00000441973:P548L;ENSP00000379328:P283L;ENSP00000443520:P659L	ENSP00000308927:P656L	P	-	2	0	SOX5	23578706	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.734000	0.98822	2.832000	0.97577	0.655000	0.94253	CCC		0.502	SOX5-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402006.2	NM_006940		4	15	0	0	0	1	0	4	15					A	23687439	G	A	23687439	3	1	435	1	0	0	0	0	1	0	0	0	14954	1232	43	3	289	3	SOX5	12	23687439	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	1479244	23687439	110164456	5601	26526											
SOX5	6660	broad.mit.edu	37	chr12	24048792	24048792	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ttgcgtcagcagagaaactgGctgaaattcctcagagtgag	12	9	12	8	1	2	4	2	2	0	2	3	5	3	4	1	1	3	2	1	1	2	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:24048792G>A	ENST00000451604.2	-	2	306	c.205C>T	c.(205-207)Cca>Tca	p.P69S	SOX5_ENST00000541847.1_Missense_Mutation_p.P59S|SOX5_ENST00000541536.1_Missense_Mutation_p.P56S|SOX5_ENST00000309359.1_Missense_Mutation_p.P56S|SOX5_ENST00000545921.1_Missense_Mutation_p.P59S|SOX5_ENST00000537393.1_Intron|SOX5_ENST00000546136.1_Missense_Mutation_p.P56S|SOX5_ENST00000441133.2_Intron|SOX5_ENST00000381381.2_Missense_Mutation_p.P56S			P35711	SOX5_HUMAN	SRY (sex determining region Y)-box 5	69					cartilage development (GO:0051216)|cell fate commitment (GO:0045165)|cellular response to transforming growth factor beta stimulus (GO:0071560)|central nervous system neuron differentiation (GO:0021953)|in utero embryonic development (GO:0001701)|negative regulation of transcription, DNA-templated (GO:0045892)|oligodendrocyte differentiation (GO:0048709)|positive regulation of cartilage development (GO:0061036)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of mesenchymal stem cell differentiation (GO:2000741)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of timing of neuron differentiation (GO:0060164)|transcription from RNA polymerase II promoter (GO:0006366)	nuclear transcription factor complex (GO:0044798)	sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(25)|ovary(5)|skin(2)|upper_aerodigestive_tract(3)	57						AGAGAAACTGGCTGAAATTCC	0.493																																						ENST00000546136.1																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(25)|ovary(5)|skin(2)|upper_aerodigestive_tract(3)	57						c.(166-168)Cca>Tca		SRY (sex determining region Y)-box 5							233	226	228					12																	24048792		2203	4300	6503	SO:0001583	missense	6660				transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr12:24048792G>A	AB081589	CCDS8699.1, CCDS41761.1, CCDS44844.1, CCDS58216.1, CCDS58217.1	12p12.1	2010-04-20			ENSG00000134532	ENSG00000134532		"SRY (sex determining region Y)-boxes"	11201	protein-coding gene	gene with protein product		604975				8812465	Standard	NM_006940		Approved	L-SOX5, MGC35153	uc001rfw.3	P35711	OTTHUMG00000169026	ENST00000451604.2:c.205C>T	12.37:g.24048792G>A	ENSP00000398273:p.Pro69Ser					SOX5_ENST00000545921.1_Missense_Mutation_p.P59S|SOX5_ENST00000381381.2_Missense_Mutation_p.P56S|SOX5_ENST00000451604.2_Missense_Mutation_p.P69S|SOX5_ENST00000541847.1_Missense_Mutation_p.P59S|SOX5_ENST00000541536.1_Missense_Mutation_p.P56S|SOX5_ENST00000441133.2_Intron|SOX5_ENST00000537393.1_Intron|SOX5_ENST00000309359.1_Missense_Mutation_p.P56S	p.P56S			P35711	SOX5_HUMAN			1	168	-			69					B7Z8V0|F5H5B0|Q86UK8|Q8J017|Q8J018|Q8J019|Q8J020|Q8N1D9|Q8N7E0|Q8TEA4	Missense_Mutation	SNP	ENST00000451604.2	37	c.166C>T	CCDS8699.1	.	.	.	.	.	.	.	.	.	.	G	12.24	1.879708	0.33162	.	.	ENSG00000134532	ENST00000546136;ENST00000309359;ENST00000381381;ENST00000451604;ENST00000541536;ENST00000545921;ENST00000541847;ENST00000538083	D;D;D;D;D;D	0.96940	-4.17;-4.17;-4.18;-4.17;-4.18;-4.17	5.79	5.79	0.91817	.	0.121832	0.53938	D	0.000047	D	0.94742	0.8303	L	0.61387	1.9	0.46631	D	0.99913	B;B	0.18166	0.026;0.006	B;B	0.15052	0.012;0.007	D	0.91410	0.5150	10	0.32370	T	0.25	.	15.5089	0.75764	0.0:0.1377:0.8623:0.0	.	56;69	P35711-4;P35711	.;SOX5_HUMAN	S	56;56;56;69;56;59;59;56	ENSP00000437487:P56S;ENSP00000308927:P56S;ENSP00000370788:P56S;ENSP00000398273:P69S;ENSP00000441973:P56S;ENSP00000443520:P59S	ENSP00000308927:P56S	P	-	1	0	SOX5	23940059	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.559000	0.53756	2.744000	0.94065	0.650000	0.86243	CCA		0.493	SOX5-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402006.2	NM_006940		80	99	0	0	0	1	0	80	99					A	24048792	G	A	24048792	3	1	435	1	0	0	0	0	1	0	0	0	14954	1203	42	3	2152	3	SOX5	12	24048792	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	361353	24048792	109803103	5602	26527											
KRAS	3845	broad.mit.edu	37	chr12	25398285	25398285	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcactcttgcctacgccacCagctccaactaccacaagtt	10	8	6	17	1	1	0	0	0	1	0	2	0	2	0	5	1	5	3	5	1	4	4	rs121913530		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:25398285C>G	ENST00000256078.4	-	2	97	c.34G>C	c.(34-36)Ggt>Cgt	p.G12R	KRAS_ENST00000557334.1_Missense_Mutation_p.G12R|KRAS_ENST00000311936.3_Missense_Mutation_p.G12R|KRAS_ENST00000556131.1_Missense_Mutation_p.G12R	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.|G -> C (in lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:6320174}.|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929, ECO:0000269|PubMed:8439212}.|G -> R (in lung cancer and bladder cancer; somatic mutation). {ECO:0000269|PubMed:6695174}.|G -> S (in lung carcinoma and GASC; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929}.|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation, constitutively activated). {ECO:0000269|PubMed:14534542, ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:22711838, ECO:0000269|PubMed:3034404, ECO:0000269|PubMed:6092920, ECO:0000269|PubMed:8439212}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to glucocorticoid (GO:0051384)|response to mineralocorticoid (GO:0051385)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	focal adhesion (GO:0005925)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GMP binding (GO:0019002)|GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.G12C(3001)|p.G12S(1288)|p.G12R(789)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12W(3)|p.A11_G12insGA(2)|p.G12Y(2)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			CCTACGCCACCAGCTCCAACT	0.348	G12C(CALU1_LUNG)|G12C(HCC44_LUNG)|G12C(IALM_LUNG)|G12C(KHM1B_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(KYSE410_OESOPHAGUS)|G12C(LU65_LUNG)|G12C(LU99_LUNG)|G12C(MIAPACA2_PANCREAS)|G12C(NCIH1373_LUNG)|G12C(NCIH1792_LUNG)|G12C(NCIH2030_LUNG)|G12C(NCIH2122_LUNG)|G12C(NCIH23_LUNG)|G12C(NCIH358_LUNG)|G12C(OV56_OVARY)|G12C(SW1463_LARGE_INTESTINE)|G12C(SW1573_LUNG)|G12C(SW837_LARGE_INTESTINE)|G12C(UMUC3_URINARY_TRACT)|G12R(CAL62_THYROID)|G12R(HS274T_BREAST)|G12R(HUPT3_PANCREAS)|G12R(KP2_PANCREAS)|G12R(PSN1_PANCREAS)|G12R(TCCPAN2_PANCREAS)|G12S(A549_LUNG)|G12S(KMS20_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12S(LS123_LARGE_INTESTINE)	119	Mis		"pancreatic, colorectal, lung, thyroid, AML, others"				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)																											Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)	ENST00000311936.3	G12C(CALU1_LUNG)|G12C(HCC44_LUNG)|G12C(IALM_LUNG)|G12C(KHM1B_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(KYSE410_OESOPHAGUS)|G12C(LU65_LUNG)|G12C(LU99_LUNG)|G12C(MIAPACA2_PANCREAS)|G12C(NCIH1373_LUNG)|G12C(NCIH1792_LUNG)|G12C(NCIH2030_LUNG)|G12C(NCIH2122_LUNG)|G12C(NCIH23_LUNG)|G12C(NCIH358_LUNG)|G12C(OV56_OVARY)|G12C(SW1463_LARGE_INTESTINE)|G12C(SW1573_LUNG)|G12C(SW837_LARGE_INTESTINE)|G12C(UMUC3_URINARY_TRACT)|G12R(CAL62_THYROID)|G12R(HS274T_BREAST)|G12R(HUPT3_PANCREAS)|G12R(KP2_PANCREAS)|G12R(PSN1_PANCREAS)|G12R(TCCPAN2_PANCREAS)|G12S(A549_LUNG)|G12S(KMS20_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12S(LS123_LARGE_INTESTINE)	119		Dom	yes		12	12p12.1	3845	Mis	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog			"L, E, M, O"			"pancreatic, colorectal, lung, thyroid, AML, others"	UBE2L3/KRAS(2)	5144	Substitution - Missense(5142)|Insertion - In frame(2)	p.G12C(3001)|p.G12S(1288)|p.G12R(789)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12W(3)|p.A11_G12insGA(2)|p.G12Y(2)|p.G12N(1)	large_intestine(2360)|lung(1649)|pancreas(656)|biliary_tract(125)|ovary(56)|endometrium(54)|haematopoietic_and_lymphoid_tissue(49)|thyroid(42)|stomach(21)|cervix(19)|upper_aerodigestive_tract(17)|urinary_tract(17)|soft_tissue(15)|small_intestine(13)|prostate(11)|breast(9)|skin(8)|testis(7)|liver(6)|oesophagus(3)|peritoneum(1)|autonomic_ganglia(1)|kidney(1)|central_nervous_system(1)|NS(1)|penis(1)|adrenal_gland(1)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	GRCh37	CM076251	KRAS	M	rs121913530	c.(34-36)Ggt>Cgt		Kirsten rat sarcoma viral oncogene homolog							93	83	86					12																	25398285		2203	4300	6503	SO:0001583	missense	3845	Noonan syndrome;Cardiofaciocutaneous syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	g.chr12:25398285C>G	BC010502	CCDS8702.1, CCDS8703.1	12p12.1	2014-09-17	2013-07-08	2005-01-24	ENSG00000133703	ENSG00000133703			6407	protein-coding gene	gene with protein product		190070	"v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog", "v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog"	KRAS2			Standard	NM_004985		Approved	KRAS1	uc001rgp.1	P01116		ENST00000256078.4:c.34G>C	12.37:g.25398285C>G	ENSP00000256078:p.Gly12Arg	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)				KRAS_ENST00000557334.1_Missense_Mutation_p.G12R|KRAS_ENST00000556131.1_Missense_Mutation_p.G12R|KRAS_ENST00000256078.4_Missense_Mutation_p.G12R	p.G12R	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)		2	225	-	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		12		G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).			A8K8Z5|B0LPF9|P01118|Q96D10	Missense_Mutation	SNP	ENST00000256078.4	37	c.34G>C	CCDS8703.1	.	.	.	.	.	.	.	.	.	.	C	28.6	4.930538	0.92389	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78246	-1.16;-1.16;-1.16;-1.16	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.84893	0.5573	M	0.84082	2.675	0.80722	D	1	P;P	0.43287	0.802;0.741	B;P	0.47941	0.36;0.562	D	0.86658	0.1902	10	0.66056	D	0.02	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	R	12	ENSP00000308495:G12R;ENSP00000452512:G12R;ENSP00000256078:G12R;ENSP00000451856:G12R	ENSP00000256078:G12R	G	-	1	0	KRAS	25289552	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.743000	0.85020	2.668000	0.90789	0.563000	0.77884	GGT		0.348	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412232.1	NM_033360		18	36	0	0	0	1	0	18	36					G	25398285	C	G	25398285	3	3	435	1	0	0	0	0	1	0	0	0	8438	594	21	5	672	5	KRAS	12	25398285	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	1349493	25398285	108453610	5603	26528											
RASSF8	11228	broad.mit.edu	37	chr12	26217739	26217739	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	catttacaggaggtgccaaaGgattaatggacatttttgga	13	12	11	5	0	0	0	0	0	0	0	0	4	0	4	1	5	2	0	1	5	3	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:26217739G>T	ENST00000405154.2	+	3	611	c.412G>T	c.(412-414)Gga>Tga	p.G138*	RASSF8_ENST00000282884.9_Nonsense_Mutation_p.G138*|RASSF8_ENST00000542865.1_Nonsense_Mutation_p.G138*|RASSF8_ENST00000541490.1_Nonsense_Mutation_p.G138*|RASSF8_ENST00000381352.3_Nonsense_Mutation_p.G138*	NM_001164748.1	NP_001158220.1	Q8NHQ8	RASF8_HUMAN	Ras association (RalGDS/AF-6) domain family (N-terminal) member 8	138					signal transduction (GO:0007165)					cervix(2)|endometrium(1)|large_intestine(6)|lung(15)|urinary_tract(1)	25	Colorectal(261;0.0847)					AGGTGCCAAAGGATTAATGGA	0.413																																						ENST00000405154.2																			0				cervix(2)|endometrium(1)|large_intestine(6)|lung(15)|urinary_tract(1)	25						c.(412-414)Gga>Tga		Ras association (RalGDS/AF-6) domain family (N-terminal) member 8							79	80	80					12																	26217739		2203	4300	6503	SO:0001587	stop_gained	11228				signal transduction			g.chr12:26217739G>T	U82396	CCDS8705.1, CCDS53765.1	12p12.3	2013-05-30	2008-02-22	2005-09-14	ENSG00000123094	ENSG00000123094			13232	protein-coding gene	gene with protein product		608231	"chromosome 12 open reading frame 2"	C12orf2			Standard	NM_007211		Approved	HoJ-1	uc001rgx.3	Q8NHQ8	OTTHUMG00000169087	ENST00000405154.2:c.412G>T	12.37:g.26217739G>T	ENSP00000384491:p.Gly138*					RASSF8_ENST00000381352.3_Nonsense_Mutation_p.G138*|RASSF8_ENST00000542865.1_Nonsense_Mutation_p.G138*|RASSF8_ENST00000541490.1_Nonsense_Mutation_p.G138*|RASSF8_ENST00000282884.9_Nonsense_Mutation_p.G138*	p.G138*	NM_001164748.1	NP_001158220.1	Q8NHQ8	RASF8_HUMAN			3	611	+	Colorectal(261;0.0847)		138					A8K1Z0|O95647|Q5SCI2|Q76KB6	Nonsense_Mutation	SNP	ENST00000405154.2	37	c.412G>T	CCDS53765.1	.	.	.	.	.	.	.	.	.	.	G	35	5.517654	0.96416	.	.	ENSG00000123094	ENST00000381352;ENST00000405154;ENST00000542865;ENST00000541490;ENST00000542004;ENST00000541218;ENST00000282884;ENST00000545413	.	.	.	4.92	4.92	0.64577	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.15066	T	0.55	-20.4804	17.4925	0.87708	0.0:0.0:1.0:0.0	.	.	.	.	X	138	.	ENSP00000282884:G138X	G	+	1	0	RASSF8	26109006	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.798000	0.69095	2.451000	0.82905	0.655000	0.94253	GGA		0.413	RASSF8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402209.2	NM_007211		35	64	1	0	1.30293e-26	1	1.45635e-26	35	64					T	26217739	G	T	26217739	4	4	435	1	0	0	0	0	0	1	0	0	13092	1001	35	5	418	5	RASSF8	12	26217739	Nonsense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	819454	26217739	107634156	5604	26529											
ITPR2	3709	broad.mit.edu	37	chr12	26551961	26551961	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggtcataaaccactcgggcaGcaaacaagggctcctgaaat	14	6	10	11	1	1	1	1	1	0	0	3	1	2	1	2	3	3	3	2	3	5	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:26551961G>T	ENST00000381340.3	-	54	7960	c.7544C>A	c.(7543-7545)gCt>gAt	p.A2515D	RP11-513G19.1_ENST00000535324.1_RNA	NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	2515					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|cellular response to cAMP (GO:0071320)|cellular response to ethanol (GO:0071361)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|regulation of insulin secretion (GO:0050796)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	cell cortex (GO:0005938)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|receptor complex (GO:0043235)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion transmembrane transporter activity (GO:0015085)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|phosphatidylinositol binding (GO:0035091)		ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)				Caffeine(DB00201)	CACTCGGGCAGCAAACAAGGG	0.328																																						ENST00000381340.3																		ETV6/ITPR2(2)	0				biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125						c.(7543-7545)gCt>gAt		inositol 1,4,5-trisphosphate receptor, type 2							38	33	35					12																	26551961		1802	4069	5871	SO:0001583	missense	3709				activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity	g.chr12:26551961G>T	D26350	CCDS41764.1	12p11.23	2014-07-18	2011-04-28		ENSG00000123104	ENSG00000123104		"Ion channels / Inositol triphosphate receptors"	6181	protein-coding gene	gene with protein product	"cilia and flagella associated protein 48"	600144	"inositol 1,4,5-triphosphate receptor, type 2"			8081734	Standard	XM_006719064		Approved	IP3R2, CFAP48	uc001rhg.3	Q14571	OTTHUMG00000169181	ENST00000381340.3:c.7544C>A	12.37:g.26551961G>T	ENSP00000370744:p.Ala2515Asp					RP11-513G19.1_ENST00000535324.1_RNA	p.A2515D	NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN			54	7960	-	Colorectal(261;0.0847)		2515					O94773	Missense_Mutation	SNP	ENST00000381340.3	37	c.7544C>A	CCDS41764.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.125453	0.77436	.	.	ENSG00000123104	ENST00000381340	D	0.98437	-4.93	4.96	4.96	0.65561	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.98340	0.9449	L	0.46157	1.445	0.80722	D	1	D	0.63880	0.993	D	0.68621	0.959	D	0.99764	1.1022	10	0.66056	D	0.02	.	18.4021	0.90520	0.0:0.0:1.0:0.0	.	2515	Q14571	ITPR2_HUMAN	D	2515	ENSP00000370744:A2515D	ENSP00000370744:A2515D	A	-	2	0	ITPR2	26443228	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.732000	0.84908	2.567000	0.86603	0.603000	0.83216	GCT		0.328	ITPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402732.1	NM_002223		16	19	1	0	3.41278e-10	1	3.64137e-10	16	19					T	26551961	G	T	26551961	3	4	435	1	0	0	0	0	1	0	0	0	7921	971	34	5	577	5	ITPR2	12	26551961	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	334222	26551961	107299934	5605	26530											
ITPR2	3709	broad.mit.edu	37	chr12	26572045	26572045	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caaaccaggacatacgccacGtgatagagaaaggccatatc	16	5	9	11	2	0	2	0	1	0	1	1	4	0	3	3	2	2	0	3	2	5	3	rs145667380		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:26572045G>A	ENST00000381340.3	-	50	7463	c.7047C>T	c.(7045-7047)caC>caT	p.H2349H	RP11-513G19.1_ENST00000535324.1_RNA	NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	2349					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|cellular response to cAMP (GO:0071320)|cellular response to ethanol (GO:0071361)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|regulation of insulin secretion (GO:0050796)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	cell cortex (GO:0005938)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|receptor complex (GO:0043235)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion transmembrane transporter activity (GO:0015085)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|phosphatidylinositol binding (GO:0035091)		ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)				Caffeine(DB00201)	CATACGCCACGTGATAGAGAA	0.443													G|||	1	0.000199681	0	0	5008	,	,		18778	0.001		0	False		,,,				2504	0					ENST00000381340.3																		ETV6/ITPR2(2)	0				biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125						c.(7045-7047)caC>caT		inositol 1,4,5-trisphosphate receptor, type 2							89	96	94					12																	26572045		2022	4187	6209	SO:0001819	synonymous_variant	3709				activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity	g.chr12:26572045G>A	D26350	CCDS41764.1	12p11.23	2014-07-18	2011-04-28		ENSG00000123104	ENSG00000123104		"Ion channels / Inositol triphosphate receptors"	6181	protein-coding gene	gene with protein product	"cilia and flagella associated protein 48"	600144	"inositol 1,4,5-triphosphate receptor, type 2"			8081734	Standard	XM_006719064		Approved	IP3R2, CFAP48	uc001rhg.3	Q14571	OTTHUMG00000169181	ENST00000381340.3:c.7047C>T	12.37:g.26572045G>A						RP11-513G19.1_ENST00000535324.1_RNA	p.H2349H	NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN			50	7463	-	Colorectal(261;0.0847)		2349					O94773	Silent	SNP	ENST00000381340.3	37	c.7047C>T	CCDS41764.1																																																																																				0.443	ITPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402732.1	NM_002223		7	25	0	0	0	1	0	7	25					A	26572045	G	A	26572045	2	1	435	1	0	0	0	0	0	0	0	1	7921	1136	40	1		1	ITPR2	12	26572045	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	20084	26572045	107279850	5606	26531											
C12orf11	55726	broad.mit.edu	37	chr12	27081709	27081709	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	attctccatgagtagagtacGagcctcatgttggtattcag	10	13	10	8	1	3	2	2	1	1	1	4	3	3	2	2	1	2	4	2	1	3	6			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:27081709G>A	ENST00000261191.7	-	4	966	c.430C>T	c.(430-432)Cgt>Tgt	p.R144C	ASUN_ENST00000539625.1_Missense_Mutation_p.R43C	NM_018164.2	NP_060634.2	Q9NVM9	ASUN_HUMAN	asunder spermatogenesis regulator	144					centrosome localization (GO:0051642)|mitotic nuclear division (GO:0007067)|mitotic spindle organization (GO:0007052)|protein localization to nuclear envelope (GO:0090435)|regulation of fertilization (GO:0080154)|regulation of mitotic cell cycle (GO:0007346)|sperm motility (GO:0030317)	cytoplasm (GO:0005737)|nucleus (GO:0005634)											AGTAGAGTACGAGCCTCATGT	0.423																																						ENST00000261191.7																			0											c.(430-432)Cgt>Tgt		asunder spermatogenesis regulator							126	115	119					12																	27081709		2203	4300	6503	SO:0001583	missense	55726				cell division|mitosis|regulation of mitotic cell cycle		protein binding	g.chr12:27081709G>A	AK001222	CCDS8708.1	12p12.3	2013-05-08	2013-05-08	2011-12-09	ENSG00000064102	ENSG00000064102			20174	protein-coding gene	gene with protein product	"spermatogenesis associated 30"	615079	"chromosome 12 open reading frame 11", "asunder, spermatogenesis regulator homolog (Drosphila)"	C12orf11		12414650, 19357193, 23097494	Standard	NM_018164		Approved	FLJ10637, NET48, Mat89Bb, SPATA30	uc001rhk.4	Q9NVM9	OTTHUMG00000169193	ENST00000261191.7:c.430C>T	12.37:g.27081709G>A	ENSP00000261191:p.Arg144Cys					ASUN_ENST00000539625.1_Missense_Mutation_p.R43C	p.R144C	NM_018164.2	NP_060634.2	Q9NVM9	M89BB_HUMAN			4	966	-			144					B4DNK1|Q86WE2|Q96HM2|Q9BTX2|Q9NTB6|Q9NVM5	Missense_Mutation	SNP	ENST00000261191.7	37	c.430C>T	CCDS8708.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.229727	0.79688	.	.	ENSG00000064102	ENST00000261191;ENST00000539625;ENST00000538727;ENST00000544548;ENST00000537336	T;T;T;T;T	0.46819	0.86;0.86;0.86;0.86;0.86	5.37	4.48	0.54585	.	0.000000	0.85682	D	0.000000	T	0.44519	0.1297	M	0.61703	1.905	0.80722	D	1	B	0.11235	0.004	B	0.10450	0.005	T	0.45086	-0.9285	10	0.72032	D	0.01	-14.2597	9.4816	0.38904	0.0724:0.0:0.7862:0.1414	.	144	Q9NVM9	M89BB_HUMAN	C	144;43;43;144;144	ENSP00000261191:R144C;ENSP00000443724:R43C;ENSP00000448467:R43C;ENSP00000446183:R144C;ENSP00000443066:R144C	ENSP00000261191:R144C	R	-	1	0	C12orf11	26972976	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.052000	0.76634	1.402000	0.46780	0.591000	0.81541	CGT		0.423	ASUN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402819.1	NM_018164		30	48	0	0	0	1	0	30	48					A	27081709	G	A	27081709	3	1	435	1	0	0	0	0	1	0	0	0	1675	1058	37	2	1746	2	C12orf11	12	27081709	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	509664	27081709	106770186	5607	26532											
FGFR1OP2	26127	broad.mit.edu	37	chr12	27109595	27109595	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttgcaacaagaaaacaaaggTaagatacgttactttttgac	17	11	7	6	1	0	3	0	1	0	2	0	3	0	3	0	1	5	3	0	1	8	6			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:27109595T>C	ENST00000229395.3	+	3	595		c.e3+2		FGFR1OP2_ENST00000546072.1_Splice_Site|FGFR1OP2_ENST00000327214.5_Splice_Site	NM_015633.2	NP_056448.1	Q9NVK5	FGOP2_HUMAN	FGFR1 oncogene partner 2						wound healing (GO:0042060)	cytosol (GO:0005829)				cervix(1)|large_intestine(4)|lung(1)|prostate(2)	8	Colorectal(261;0.0847)					AAAACAAAGGTAAGATACGTT	0.388																																						ENST00000229395.3																			0				cervix(1)|large_intestine(4)|lung(1)|prostate(2)	8						c.e3+2		FGFR1 oncogene partner 2							85	77	80					12																	27109595		2203	4300	6503	SO:0001630	splice_region_variant	26127					cytoplasm		g.chr12:27109595T>C	AF161472	CCDS8709.1, CCDS53766.1, CCDS53767.1	12p12.1	2014-01-28			ENSG00000111790	ENSG00000111790			23098	protein-coding gene	gene with protein product		608858				15034873	Standard	NM_015633		Approved	DKFZp564O1863	uc001rhm.3	Q9NVK5		ENST00000229395.3:c.253+2T>C	12.37:g.27109595T>C						FGFR1OP2_ENST00000546072.1_Splice_Site|FGFR1OP2_ENST00000327214.5_Splice_Site		NM_015633.2	NP_056448.1	Q9NVK5	FGOP2_HUMAN			3	595	+	Colorectal(261;0.0847)							Q6R955|Q8N5L7|Q9P034|Q9UFK8	Splice_Site	SNP	ENST00000229395.3	37		CCDS8709.1	.	.	.	.	.	.	.	.	.	.	t	11.27	1.588184	0.28357	.	.	ENSG00000111790	ENST00000229395;ENST00000546072;ENST00000327214	.	.	.	4.47	-2.02	0.07388	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.9986	0.47591	0.0:0.2394:0.0:0.7606	.	.	.	.	.	-1	.	.	.	+	.	.	FGFR1OP2	27000862	1.000000	0.71417	0.990000	0.47175	0.700000	0.40528	1.920000	0.40025	-0.306000	0.08818	-1.002000	0.02502	.		0.388	FGFR1OP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402961.1	NM_015633	Intron	17	40	0	0	0	1	0	17	40					C	27109595	T	C	27109595	5	2	435	1	0	0	0	0	0	0	1	0	5865	1652	57	4	261	4	FGFR1OP2	12	27109595	Splice_Site	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	27886	27109595	106742300	5608	26533											
TM7SF3	51768	broad.mit.edu	37	chr12	27127112	27127112	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tctctcttcgaatctgtaacGtaattccacttacagccagc	10	13	5	13	2	3	0	0	0	3	0	6	1	4	0	2	0	4	2	2	0	4	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:27127112G>A	ENST00000343028.4	-	12	1724	c.1499C>T	c.(1498-1500)aCg>aTg	p.T500M	RP11-421F16.3_ENST00000500632.1_RNA	NM_016551.2	NP_057635.1	Q9NS93	TM7S3_HUMAN	transmembrane 7 superfamily member 3	500						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	18	Colorectal(261;0.0847)					AATCTGTAACGTAATTCCACT	0.428																																						ENST00000343028.4																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	18						c.(1498-1500)aCg>aTg		transmembrane 7 superfamily member 3							92	83	86					12																	27127112		2203	4300	6503	SO:0001583	missense	51768					integral to membrane|plasma membrane		g.chr12:27127112G>A	AB032470	CCDS8710.1	12q11-q12	2012-08-10			ENSG00000064115	ENSG00000064115			23049	protein-coding gene	gene with protein product		605181				10828615	Standard	NM_016551		Approved		uc010sjl.2	Q9NS93	OTTHUMG00000169243	ENST00000343028.4:c.1499C>T	12.37:g.27127112G>A	ENSP00000342322:p.Thr500Met					RP11-421F16.3_ENST00000500632.1_RNA	p.T500M	NM_016551.2	NP_057635.1	Q9NS93	TM7S3_HUMAN			12	1724	-	Colorectal(261;0.0847)		500					B3KMZ3|Q9NUS4	Missense_Mutation	SNP	ENST00000343028.4	37	c.1499C>T	CCDS8710.1	.	.	.	.	.	.	.	.	.	.	G	18.71	3.682217	0.68042	.	.	ENSG00000064115	ENST00000343028;ENST00000545344	T	0.31510	1.49	5.58	5.58	0.84498	.	0.202993	0.52532	D	0.000062	T	0.52125	0.1715	L	0.60455	1.87	0.45108	D	0.99812	D	0.76494	0.999	D	0.64042	0.921	T	0.40664	-0.9551	10	0.44086	T	0.13	-12.0532	19.9662	0.97271	0.0:0.0:1.0:0.0	.	500	Q9NS93	TM7S3_HUMAN	M	500;214	ENSP00000342322:T500M	ENSP00000342322:T500M	T	-	2	0	TM7SF3	27018379	1.000000	0.71417	0.745000	0.31077	0.813000	0.45954	5.639000	0.67868	2.793000	0.96121	0.655000	0.94253	ACG		0.428	TM7SF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403033.1	NM_016551		13	38	0	0	0	1	0	13	38					A	27127112	G	A	27127112	3	1	435	1	0	0	0	0	1	0	0	0	15972	1145	40	1	217	1	TM7SF3	12	27127112	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	17517	27127112	106724783	5609	26534											
STK38L	23012	broad.mit.edu	37	chr12	27450705	27450705	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcctatgagcaaccataccCgggaaagagtgactgtagcc	12	8	10	11	1	0	3	0	2	0	1	1	4	1	4	4	1	4	2	4	1	5	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:27450705C>T	ENST00000389032.3	+	2	221	c.52C>T	c.(52-54)Cgg>Tgg	p.R18W	STK38L_ENST00000539577.1_Intron	NM_015000.3	NP_055815.1			serine/threonine kinase 38 like									p.R18W(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)|skin(1)	12	Colorectal(261;0.0847)					CAACCATACCCGGGAAAGAGT	0.403																																						ENST00000389032.3																			1	Substitution - Missense(1)	p.R18W(1)	lung(1)	breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)|skin(1)	12						c.(52-54)Cgg>Tgg		serine/threonine kinase 38 like							100	102	101					12																	27450705		2203	4300	6503	SO:0001583	missense	23012				intracellular protein kinase cascade|regulation of cellular component organization	actin cytoskeleton|cytoplasm	actin binding|ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr12:27450705C>T	AB023182	CCDS31761.1	12p11.23	2014-04-23			ENSG00000211455	ENSG00000211455			17848	protein-coding gene	gene with protein product	"nuclear Dbf2-related 2"	615836				16488889	Standard	NM_015000		Approved	KIAA0965, NDR2	uc001rhr.3	Q9Y2H1	OTTHUMG00000169284	ENST00000389032.3:c.52C>T	12.37:g.27450705C>T	ENSP00000373684:p.Arg18Trp					STK38L_ENST00000539577.1_Intron	p.R18W	NM_015000.3	NP_055815.1	Q9Y2H1	ST38L_HUMAN			2	221	+	Colorectal(261;0.0847)		18						Missense_Mutation	SNP	ENST00000389032.3	37	c.52C>T	CCDS31761.1	.	.	.	.	.	.	.	.	.	.	C	16.46	3.128997	0.56721	.	.	ENSG00000211455	ENST00000541191;ENST00000389032;ENST00000545470;ENST00000540996;ENST00000543246;ENST00000544969	T;T;T;T;T;T	0.51071	0.72;0.72;0.72;0.72;0.72;0.72	5.18	3.29	0.37713	.	0.000000	0.85682	D	0.000000	T	0.45696	0.1355	L	0.52905	1.665	0.80722	D	1	D	0.62365	0.991	P	0.44860	0.462	T	0.48043	-0.9069	10	0.66056	D	0.02	.	12.1215	0.53893	0.1362:0.7328:0.1309:0.0	.	18	Q9Y2H1	ST38L_HUMAN	W	18	ENSP00000437856:R18W;ENSP00000373684:R18W;ENSP00000439457:R18W;ENSP00000443838:R18W;ENSP00000442253:R18W;ENSP00000440279:R18W	ENSP00000373684:R18W	R	+	1	2	STK38L	27341972	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	1.716000	0.37981	0.634000	0.30469	-0.282000	0.10007	CGG		0.403	STK38L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403297.1	NM_015000		38	48	0	0	0	1	0	38	48					T	27450705	C	T	27450705	3	4	435	1	0	0	0	0	1	0	0	0	15303	643	23	2	54	2	STK38L	12	27450705	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	323593	27450705	106401190	5610	26535											
ARNTL2	56938	broad.mit.edu	37	chr12	27533279	27533279	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cagtgcaaccccatggcgcgTaaactggacaaacttacagt	13	7	9	12	2	0	0	0	0	0	0	0	1	0	1	2	2	5	2	2	2	5	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:27533279T>C	ENST00000266503.5	+	5	444	c.426T>C	c.(424-426)cgT>cgC	p.R142R	ARNTL2_ENST00000544915.1_Silent_p.R108R|ARNTL2_ENST00000546179.1_Silent_p.R105R|ARNTL2_ENST00000261178.5_Silent_p.R94R|ARNTL2_ENST00000395901.2_Silent_p.R105R|ARNTL2_ENST00000311001.5_Silent_p.R128R|ARNTL2_ENST00000542388.1_Silent_p.R57R			Q8WYA1	BMAL2_HUMAN	aryl hydrocarbon receptor nuclear translocator-like 2	142	Interaction with PER2. {ECO:0000250|UniProtKB:Q2VPD4}.|bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				circadian rhythm (GO:0007623)|entrainment of circadian clock (GO:0009649)|positive regulation of circadian rhythm (GO:0042753)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	E-box binding (GO:0070888)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity (GO:0000982)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			breast(1)|endometrium(2)|large_intestine(5)|lung(9)|ovary(1)|skin(2)|urinary_tract(1)	21	Colorectal(261;0.0847)|Lung SC(9;0.184)					CCATGGCGCGTAAACTGGACA	0.418																																						ENST00000544915.1																			0				breast(1)|endometrium(2)|large_intestine(5)|lung(9)|ovary(1)|skin(2)|urinary_tract(1)	21						c.(322-324)cgT>cgC		aryl hydrocarbon receptor nuclear translocator-like 2							129	116	120					12																	27533279		2203	4300	6503	SO:0001819	synonymous_variant	56938				circadian rhythm|entrainment of circadian clock|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr12:27533279T>C	AF246961	CCDS8712.1, CCDS58219.1, CCDS58220.1, CCDS58221.1, CCDS58222.1	12p12.2-p11.2	2013-05-21			ENSG00000029153	ENSG00000029153		"Basic helix-loop-helix proteins"	18984	protein-coding gene	gene with protein product		614517				10864977, 10964693	Standard	NM_020183		Approved	BMAL2, MOP9, CLIF, PASD9, bHLHe6	uc001rht.2	Q8WYA1	OTTHUMG00000169257	ENST00000266503.5:c.426T>C	12.37:g.27533279T>C						ARNTL2_ENST00000266503.5_Silent_p.R142R|ARNTL2_ENST00000395901.2_Silent_p.R105R|ARNTL2_ENST00000261178.5_Silent_p.R94R|ARNTL2_ENST00000542388.1_Silent_p.R57R|ARNTL2_ENST00000546179.1_Silent_p.R105R|ARNTL2_ENST00000311001.5_Silent_p.R128R	p.R108R	NM_020183.4	NP_064568.3	Q8WYA1	BMAL2_HUMAN			4	543	+	Colorectal(261;0.0847)|Lung SC(9;0.184)		142					B7Z429|F5H402|Q8WYA2|Q8WYA3|Q8WYA4|Q96J63|Q9H2M4|Q9NS70|Q9NYQ4|Q9NYQ5	Silent	SNP	ENST00000266503.5	37	c.324T>C	CCDS8712.1	.	.	.	.	.	.	.	.	.	.	T	9.506	1.104554	0.20632	.	.	ENSG00000029153	ENST00000457040	.	.	.	3.33	-5.7	0.02421	.	.	.	.	.	T	0.34745	0.0908	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.38585	-0.9654	4	.	.	.	.	0.582	0.00713	0.206:0.1941:0.1875:0.4124	.	.	.	.	A	94	.	.	V	+	2	0	ARNTL2	27424546	0.000000	0.05858	0.064000	0.19789	0.978000	0.69477	-3.439000	0.00470	-1.083000	0.03097	0.533000	0.62120	GTA		0.418	ARNTL2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000403162.1	NM_020183		42	47	0	0	0	1	0	42	47					C	27533279	T	C	27533279	2	2	435	1	0	0	0	0	0	0	0	1	968	1625	57	4		4	ARNTL2	12	27533279	Silent	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	82574	27533279	106318616	5611	26536											
PPFIBP1	8496	broad.mit.edu	37	chr12	27835613	27835613	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atgaaggacgggttgatggtCgaatgctacattacatgact	12	11	12	6	2	0	3	0	3	0	0	1	5	0	4	0	3	3	2	0	3	4	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:27835613C>T	ENST00000318304.8	+	23	2525	c.2242C>T	c.(2242-2244)Cga>Tga	p.R748*	PPFIBP1_ENST00000537927.1_Nonsense_Mutation_p.R595*|PPFIBP1_ENST00000542629.1_Nonsense_Mutation_p.R717*|PPFIBP1_ENST00000228425.6_Nonsense_Mutation_p.R742*	NM_001198916.1|NM_177444.2	NP_001185845.1|NP_803193	Q86W92	LIPB1_HUMAN	PTPRF interacting protein, binding protein 1 (liprin beta 1)	748	SAM 2. {ECO:0000255|PROSITE- ProRule:PRU00184}.				cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)			PPFIBP1/ALK(3)	central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(13)|prostate(2)|skin(1)	32	Lung SC(9;0.0873)					GGTTGATGGTCGAATGCTACA	0.453																																						ENST00000318304.8																		PPFIBP1/ALK(3)	0				central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(13)|prostate(2)|skin(1)	32						c.(2242-2244)Cga>Tga		PTPRF interacting protein, binding protein 1 (liprin beta 1)							162	156	158					12																	27835613		2203	4300	6503	SO:0001587	stop_gained	8496				cell adhesion	plasma membrane	protein binding	g.chr12:27835613C>T	AF034802	CCDS8713.1, CCDS55812.1, CCDS55813.1, CCDS55814.1	12p12.1	2013-01-10						"Sterile alpha motif (SAM) domain containing"	9249	protein-coding gene	gene with protein product		603141				9624153, 11836260	Standard	NM_003622		Approved	L2, hSGT2, hSgt2p, SGT2	uc001ric.2	Q86W92		ENST00000318304.8:c.2242C>T	12.37:g.27835613C>T	ENSP00000314724:p.Arg748*					PPFIBP1_ENST00000228425.6_Nonsense_Mutation_p.R742*|PPFIBP1_ENST00000537927.1_Nonsense_Mutation_p.R595*|PPFIBP1_ENST00000542629.1_Nonsense_Mutation_p.R717*	p.R748*	NM_001198916.1|NM_177444.2	NP_001185845.1|NP_803193.2	Q86W92	LIPB1_HUMAN			23	2525	+	Lung SC(9;0.0873)		748			SAM 2.		O75336|Q86X70|Q9NY03|Q9ULJ0	Nonsense_Mutation	SNP	ENST00000318304.8	37	c.2242C>T	CCDS55812.1	.	.	.	.	.	.	.	.	.	.	C	24.1	4.495189	0.85069	.	.	ENSG00000110841	ENST00000540114;ENST00000537927;ENST00000318304;ENST00000542629;ENST00000228425	.	.	.	5.26	4.35	0.52113	.	0.000000	0.28754	U	0.014259	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-12.4327	12.5911	0.56443	0.3022:0.6978:0.0:0.0	.	.	.	.	X	579;595;748;717;742	.	ENSP00000228425:R742X	R	+	1	2	PPFIBP1	27726880	0.991000	0.36638	0.764000	0.31436	0.761000	0.43186	2.921000	0.48852	1.175000	0.42826	0.655000	0.94253	CGA		0.453	PPFIBP1-007	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402877.1	NM_003622		42	49	0	0	0	1	0	42	49					T	27835613	C	T	27835613	4	4	435	1	0	0	0	0	0	1	0	0	12313	876	31	2	2352	2	PPFIBP1	12	27835613	Nonsense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	302334	27835613	106016282	5612	26537											
PTHLH	5744	broad.mit.edu	37	chr12	28116656	28116656	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gtcgccgtaaatcttggatgGacttccccttgtcatggagg	7	12	12	10	2	2	0	1	0	1	0	4	3	3	3	3	4	0	1	3	4	2	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:28116656G>A	ENST00000545234.1	-	5	689	c.149C>T	c.(148-150)tCc>tTc	p.S50F	PTHLH_ENST00000539239.1_Missense_Mutation_p.S50F|PTHLH_ENST00000201015.4_Missense_Mutation_p.S50F|PTHLH_ENST00000354417.3_Missense_Mutation_p.S50F|RP11-993B23.3_ENST00000538113.1_RNA|PTHLH_ENST00000538310.1_Missense_Mutation_p.S50F|PTHLH_ENST00000395868.3_Missense_Mutation_p.S50F|PTHLH_ENST00000535992.1_Missense_Mutation_p.S50F|PTHLH_ENST00000395872.1_Missense_Mutation_p.S50F			P12272	PTHR_HUMAN	parathyroid hormone-like hormone	50					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|cAMP metabolic process (GO:0046058)|cell-cell signaling (GO:0007267)|endochondral ossification (GO:0001958)|endoderm development (GO:0007492)|epidermis development (GO:0008544)|epithelial cell differentiation (GO:0030855)|female pregnancy (GO:0007565)|lung alveolus development (GO:0048286)|mammary gland bud elongation (GO:0060649)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|nipple sheath formation (GO:0060659)|osteoblast development (GO:0002076)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cell proliferation (GO:0008284)|protein processing (GO:0016485)|regulation of gene expression (GO:0010468)|skeletal system development (GO:0001501)|surfactant homeostasis (GO:0043129)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	hormone activity (GO:0005179)|peptide hormone receptor binding (GO:0051428)			breast(1)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)|stomach(1)	10	Lung SC(9;0.184)					ATCTTGGATGGACTTCCCCTT	0.443																																						ENST00000535992.1																			0				breast(1)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)|stomach(1)	10						c.(148-150)tCc>tTc		parathyroid hormone-like hormone							134	133	134					12																	28116656		2203	4300	6503	SO:0001583	missense	5744				activation of adenylate cyclase activity by G-protein signaling pathway|cAMP metabolic process|cell-cell signaling|epidermis development|female pregnancy|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|positive regulation of cAMP biosynthetic process|positive regulation of cell proliferation	cytoplasm|extracellular space|nucleus	hormone activity|peptide hormone receptor binding	g.chr12:28116656G>A		CCDS8715.1, CCDS44853.1	12p12.1-p11.2	2014-01-07			ENSG00000087494	ENSG00000087494		"Endogenous ligands"	9607	protein-coding gene	gene with protein product	"osteostatin", "parathyroid hormone-like hormone preproprotein", "parathyroid hormone-related protein preproprotein"	168470				2708388	Standard	NM_002820		Approved	PTHRP, HHM, PLP, PTHR	uc001ril.3	P12272	OTTHUMG00000169221	ENST00000545234.1:c.149C>T	12.37:g.28116656G>A	ENSP00000441765:p.Ser50Phe					PTHLH_ENST00000395868.3_Missense_Mutation_p.S50F|PTHLH_ENST00000395872.1_Missense_Mutation_p.S50F|PTHLH_ENST00000201015.4_Missense_Mutation_p.S50F|PTHLH_ENST00000538310.1_Missense_Mutation_p.S50F|PTHLH_ENST00000539239.1_Missense_Mutation_p.S50F|PTHLH_ENST00000354417.3_Missense_Mutation_p.S50F|RP11-993B23.3_ENST00000538113.1_RNA|PTHLH_ENST00000545234.1_Missense_Mutation_p.S50F	p.S50F			P12272	PTHR_HUMAN			3	495	-	Lung SC(9;0.184)		50					Q15251|Q6FH74	Missense_Mutation	SNP	ENST00000545234.1	37	c.149C>T	CCDS44853.1	.	.	.	.	.	.	.	.	.	.	G	19.85	3.903630	0.72754	.	.	ENSG00000087494	ENST00000395872;ENST00000539239;ENST00000545234;ENST00000538310;ENST00000354417;ENST00000201015;ENST00000535992;ENST00000395868;ENST00000542963;ENST00000534890	D;D;D;D;D;D;D;D;D;D	0.84223	-1.82;-1.82;-1.82;-1.82;-1.82;-1.82;-1.82;-1.82;-1.82;-1.82	5.65	4.57	0.56435	.	0.268743	0.42682	D	0.000661	D	0.85877	0.5799	L	0.38175	1.15	0.42403	D	0.992573	D	0.54397	0.966	P	0.55923	0.787	D	0.87245	0.2269	10	0.66056	D	0.02	-18.9919	14.5703	0.68205	0.0825:0.0:0.9175:0.0	.	50	P12272	PTHR_HUMAN	F	50;50;50;50;50;50;50;50;50;58	ENSP00000379213:S50F;ENSP00000441571:S50F;ENSP00000441765:S50F;ENSP00000441890:S50F;ENSP00000346398:S50F;ENSP00000201015:S50F;ENSP00000440613:S50F;ENSP00000379209:S50F;ENSP00000444519:S50F;ENSP00000445157:S58F	ENSP00000201015:S50F	S	-	2	0	PTHLH	28007923	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	6.124000	0.71620	2.660000	0.90430	0.650000	0.86243	TCC		0.443	PTHLH-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402913.1	NM_198965		37	52	0	0	0	1	0	37	52					A	28116656	G	A	28116656	3	1	435	1	0	0	0	0	1	0	0	0	12761	1174	41	3	396	3	PTHLH	12	28116656	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	281043	28116656	105735239	5613	26538											
CCDC91	55297	broad.mit.edu	37	chr12	28458701	28458701	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caccagagaatacacatgcaGcaaatagcattgtgagtcaa	17	7	8	9	0	1	2	1	1	0	1	1	3	1	2	1	0	4	3	1	0	5	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:28458701G>T	ENST00000545336.1	+	7	648	c.229G>T	c.(229-231)Gca>Tca	p.A77S	CCDC91_ENST00000539107.1_Missense_Mutation_p.A77S|CCDC91_ENST00000381256.1_Missense_Mutation_p.A77S|CCDC91_ENST00000381259.1_Missense_Mutation_p.A77S|CCDC91_ENST00000306172.5_Missense_Mutation_p.A47S|CCDC91_ENST00000540401.1_3'UTR			Q7Z6B0	CCD91_HUMAN	coiled-coil domain containing 91	77					protein transport (GO:0015031)	Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)				NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)|skin(1)	22	Acute lymphoblastic leukemia(23;0.00718)|all_hematologic(23;0.0113)|Lung SC(9;0.184)					TACACATGCAGCAAATAGCAT	0.378																																						ENST00000545336.1																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)|skin(1)	22						c.(229-231)Gca>Tca		coiled-coil domain containing 91							176	161	166					12																	28458701		2203	4300	6503	SO:0001583	missense	55297				protein transport	Golgi apparatus|membrane		g.chr12:28458701G>T	AK093152	CCDS8716.1	12p11.22	2006-03-17				ENSG00000123106			24855	protein-coding gene	gene with protein product	"GGA binding partner"					12808037	Standard	XM_005253413		Approved	p56, FLJ11088, DKFZp779L1558	uc001riq.3	Q7Z6B0		ENST00000545336.1:c.229G>T	12.37:g.28458701G>T	ENSP00000438040:p.Ala77Ser					CCDC91_ENST00000381259.1_Missense_Mutation_p.A77S|CCDC91_ENST00000540401.1_3'UTR|CCDC91_ENST00000539107.1_Missense_Mutation_p.A77S|CCDC91_ENST00000381256.1_Missense_Mutation_p.A77S|CCDC91_ENST00000306172.5_Missense_Mutation_p.A47S	p.A77S			Q7Z6B0	CCD91_HUMAN			7	648	+	Acute lymphoblastic leukemia(23;0.00718)|all_hematologic(23;0.0113)|Lung SC(9;0.184)		77					B3KSA3|C9JR07|Q68D43|Q6IA78|Q8NEN7|Q9NUW9	Missense_Mutation	SNP	ENST00000545336.1	37	c.229G>T	CCDS8716.1	.	.	.	.	.	.	.	.	.	.	G	6.134	0.392965	0.11638	.	.	ENSG00000123106	ENST00000538586;ENST00000539107;ENST00000536442;ENST00000545336;ENST00000543534;ENST00000545737;ENST00000381259;ENST00000381256;ENST00000306172	T;T;T;T;T;T;T	0.34275	1.37;1.4;1.4;1.4;1.4;1.37;1.38	4.66	3.73	0.42828	.	1.196070	0.05936	N	0.636032	T	0.20007	0.0481	N	0.08118	0	0.09310	N	1	B;B	0.09022	0.002;0.002	B;B	0.11329	0.003;0.006	T	0.22556	-1.0213	10	0.13108	T	0.6	-1.9446	8.1316	0.31031	0.1164:0.0:0.8836:0.0	.	77;47	Q7Z6B0;Q7Z6B0-2	CCD91_HUMAN;.	S	77;77;77;77;77;77;77;77;47	ENSP00000440513:A77S;ENSP00000445660:A77S;ENSP00000438040:A77S;ENSP00000442544:A77S;ENSP00000370658:A77S;ENSP00000370655:A77S;ENSP00000305075:A47S	ENSP00000305075:A47S	A	+	1	0	CCDC91	28349968	0.007000	0.16637	0.008000	0.14137	0.006000	0.05464	1.485000	0.35519	1.249000	0.43950	0.591000	0.81541	GCA		0.378	CCDC91-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402447.1	NM_018318		38	55	1	0	6.97489e-18	1	7.68957e-18	38	55					T	28458701	G	T	28458701	3	4	435	1	0	0	0	0	1	0	0	0	2870	971	34	5	239	5	CCDC91	12	28458701	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	342045	28458701	105393194	5614	26539											
ERGIC2	51290	broad.mit.edu	37	chr12	29494701	29494701	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tataggatccaagtctgaaaCgacagcaaattatttcaact	16	11	6	8	1	2	1	1	1	1	0	3	3	3	2	1	1	3	1	1	1	7	4	rs372439091		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:29494701C>T	ENST00000360150.4	-	13	1112	c.1037G>A	c.(1036-1038)cGt>cAt	p.R346H		NM_016570.2	NP_057654.2	Q96RQ1	ERGI2_HUMAN	ERGIC and golgi 2	346					vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleolus (GO:0005730)				endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(2)|urinary_tract(1)	10	Lung NSC(12;2.02e-08)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)|Lung SC(9;0.184)					AAGTCTGAAACGACAGCAAAT	0.303													C|||	1	0.000199681	0	0	5008	,	,		17758	0		0.001	False		,,,				2504	0					ENST00000360150.4																			0				endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(2)|urinary_tract(1)	10						c.(1036-1038)cGt>cAt		ERGIC and golgi 2	Arsenic trioxide(DB01169)	C	HIS/ARG	0,3652		0,0,1826	89	88	88		1037	4.9	1	12		88	1,8151		0,1,4075	no	missense	ERGIC2	NM_016570.2	29	0,1,5901	TT,TC,CC		0.0123,0.0,0.0085	probably-damaging	346/378	29494701	1,11803	1826	4076	5902	SO:0001583	missense	51290				vesicle-mediated transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi apparatus|integral to membrane|nucleus		g.chr12:29494701C>T	AF216751	CCDS41765.1	12p11.22	2006-02-08							30208	protein-coding gene	gene with protein product		612236				11445006, 12932305	Standard	NM_016570		Approved	PTX1, Erv41	uc001riv.3	Q96RQ1		ENST00000360150.4:c.1037G>A	12.37:g.29494701C>T	ENSP00000353270:p.Arg346His						p.R346H	NM_016570.2	NP_057654.2	Q96RQ1	ERGI2_HUMAN			13	1112	-	Lung NSC(12;2.02e-08)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)|Lung SC(9;0.184)		346					A6NHH6|Q53GY2|Q8N2Q9|Q9BVV9|Q9NZA3	Missense_Mutation	SNP	ENST00000360150.4	37	c.1037G>A	CCDS41765.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	24.8|24.8	4.568456|4.568456	0.86439|0.86439	0.0|0.0	1.23E-4|1.23E-4	ENSG00000087502|ENSG00000087502	ENST00000360150;ENST00000201023|ENST00000551467	.|.	.|.	.|.	5.76|5.76	4.88|4.88	0.63580|0.63580	.|.	0.049863|.	0.85682|.	D|.	0.000000|.	T|T	0.52677|0.52677	0.1749|0.1749	L|L	0.29908|0.29908	0.895|0.895	0.58432|0.58432	D|D	0.999997|0.999997	D|.	0.89917|.	1.0|.	P|.	0.60609|.	0.877|.	T|T	0.49303|0.49303	-0.8954|-0.8954	9|5	0.59425|.	D|.	0.04|.	.|.	12.7758|12.7758	0.57445|0.57445	0.0:0.9207:0.0:0.0793|0.0:0.9207:0.0:0.0793	.|.	346|.	Q96RQ1|.	ERGI2_HUMAN|.	H|I	346;354|178	.|.	ENSP00000201023:R354H|.	R|V	-|-	2|1	0|0	ERGIC2|ERGIC2	29385968|29385968	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.990000|0.990000	0.78478|0.78478	5.276000|5.276000	0.65580|0.65580	1.580000|1.580000	0.49851|0.49851	0.650000|0.650000	0.86243|0.86243	CGT|GTT		0.303	ERGIC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403489.1	NM_016570		52	87	0	0	0	1	0	52	87					T	29494701	C	T	29494701	3	4	435	1	0	0	0	0	1	0	0	0	5224	536	19	1	104	1	ERGIC2	12	29494701	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	1036000	29494701	104357194	5615	26540											
OVCH1	341350	broad.mit.edu	37	chr12	29630489	29630489	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtttgttttgttttccatcGtcttccatgagagatctctg	5	19	8	9	2	2	2	0	1	2	1	6	3	4	2	2	0	0	3	2	0	0	6			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:29630489G>A	ENST00000318184.5	-	10	1091	c.1092C>T	c.(1090-1092)gaC>gaT	p.D364D	OVCH1-AS1_ENST00000551108.1_Intron|OVCH1-AS1_ENST00000549411.1_Intron	NM_183378.2	NP_899234.2	Q7RTY7	OVCH1_HUMAN	ovochymase 1	364	CUB 1. {ECO:0000255|PROSITE- ProRule:PRU00059}.					extracellular region (GO:0005576)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(43)|ovary(5)|pancreas(3)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)	92	Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)					GTTTTCCATCGTCTTCCATGA	0.358																																						ENST00000318184.5																			0				NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(43)|ovary(5)|pancreas(3)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)	92						c.(1090-1092)gaC>gaT		ovochymase 1							90	87	88					12																	29630489		1863	4097	5960	SO:0001819	synonymous_variant	341350				proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity	g.chr12:29630489G>A	BN000128		12p11.23	2012-11-08			ENSG00000187950	ENSG00000187950			23080	protein-coding gene	gene with protein product						12838346	Standard	NM_183378		Approved	OVCH	uc001rix.1	Q7RTY7	OTTHUMG00000167741	ENST00000318184.5:c.1092C>T	12.37:g.29630489G>A						OVCH1-AS1_ENST00000551108.1_Intron|OVCH1-AS1_ENST00000549411.1_Intron	p.D364D	NM_183378.2	NP_899234.2	Q7RTY7	OVCH1_HUMAN			10	1091	-	Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)		364			CUB 1.			Silent	SNP	ENST00000318184.5	37	c.1092C>T																																																																																					0.358	OVCH1-001	KNOWN	non_canonical_TEC|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000395997.2	NM_183378		7	17	0	0	0	1	0	7	17					A	29630489	G	A	29630489	2	1	435	1	0	0	0	0	0	0	0	1	11323	1136	40	1		1	OVCH1	12	29630489	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	135788	29630489	104221406	5616	26541											
CAPRIN2	65981	broad.mit.edu	37	chr12	30887978	30887978	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aagttcttttgaaggcaaatAcactgcaccattcaaacccc	14	10	5	12	0	2	1	1	1	1	0	2	1	2	1	3	1	3	3	3	1	5	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:30887978A>G	ENST00000395805.2	-	4	1280	c.733T>C	c.(733-735)Tat>Cat	p.Y245H	CAPRIN2_ENST00000538387.1_5'UTR|CAPRIN2_ENST00000417045.1_Missense_Mutation_p.Y245H|CAPRIN2_ENST00000298892.5_Missense_Mutation_p.Y245H|CAPRIN2_ENST00000308433.5_5'UTR|CAPRIN2_ENST00000251071.5_Missense_Mutation_p.Y245H	NM_001206856.1	NP_001193785.1			caprin family member 2											breast(1)|central_nervous_system(1)|endometrium(8)|kidney(4)|large_intestine(13)|lung(16)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	48	all_lung(12;1.13e-09)|Lung NSC(12;7.98e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)					GAAGGCAAATACACTGCACCA	0.378																																						ENST00000251071.5																			0				breast(1)|central_nervous_system(1)|endometrium(8)|kidney(4)|large_intestine(13)|lung(16)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	48						c.(733-735)Tat>Cat		caprin family member 2							183	179	181					12																	30887978		2203	4300	6503	SO:0001583	missense	65981				negative regulation of cell growth|negative regulation of translation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of dendrite morphogenesis|positive regulation of dendritic spine morphogenesis|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein binding|positive regulation of transcription from RNA polymerase II promoter	mitochondrion|receptor complex	receptor binding|RNA binding	g.chr12:30887978A>G	AY074491	CCDS8720.1, CCDS41766.1, CCDS41766.2, CCDS55816.1	12p11	2010-08-03	2007-03-27	2007-03-27	ENSG00000110888	ENSG00000110888			21259	protein-coding gene	gene with protein product		610375	"C1q domain containing 1"	C1QDC1		11347906, 14764709	Standard	NM_001002259		Approved	EEG1, FLJ22569, FLJ11391, caprin-2, RNG140	uc001rji.1	Q6IMN6	OTTHUMG00000169185	ENST00000395805.2:c.733T>C	12.37:g.30887978A>G	ENSP00000379150:p.Tyr245His					CAPRIN2_ENST00000538387.1_5'UTR|CAPRIN2_ENST00000395805.2_Missense_Mutation_p.Y245H|CAPRIN2_ENST00000417045.1_Missense_Mutation_p.Y245H|CAPRIN2_ENST00000298892.5_Missense_Mutation_p.Y245H|CAPRIN2_ENST00000308433.5_5'UTR	p.Y245H	NM_001002259.1|NM_032156.3	NP_001002259.1|NP_115532.3	Q6IMN6	CAPR2_HUMAN			4	1483	-	all_lung(12;1.13e-09)|Lung NSC(12;7.98e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)		245						Missense_Mutation	SNP	ENST00000395805.2	37	c.733T>C	CCDS55816.1	.	.	.	.	.	.	.	.	.	.	A	13.97	2.397024	0.42512	.	.	ENSG00000110888	ENST00000298892;ENST00000395805;ENST00000251071;ENST00000417045;ENST00000537108;ENST00000541765;ENST00000543380;ENST00000542550	D;D;D;D;D;T;T;T	0.95342	-3.68;-3.68;-3.68;-3.68;-3.68;1.86;1.86;1.86	4.72	4.72	0.59763	.	0.411868	0.27393	N	0.019569	D	0.90174	0.6929	N	0.24115	0.695	0.80722	D	1	B;B;P;B;B	0.49447	0.04;0.124;0.924;0.033;0.024	B;B;P;B;B	0.44732	0.014;0.033;0.459;0.015;0.01	D	0.88812	0.3292	10	0.24483	T	0.36	-1.6035	14.3759	0.66874	1.0:0.0:0.0:0.0	.	245;245;245;245;245	Q149P6;Q6IMN6-3;Q6IMN6;Q6IMN6-2;E4NKG2	.;.;CAPR2_HUMAN;.;.	H	245;245;245;245;164;42;42;164	ENSP00000298892:Y245H;ENSP00000379150:Y245H;ENSP00000251071:Y245H;ENSP00000391479:Y245H;ENSP00000438010:Y164H;ENSP00000444137:Y42H;ENSP00000440785:Y42H;ENSP00000443353:Y164H	ENSP00000251071:Y245H	Y	-	1	0	CAPRIN2	30779245	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.617000	0.61204	1.981000	0.57761	0.482000	0.46254	TAT		0.378	CAPRIN2-004	PUTATIVE	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000403322.2	NM_023925		14	188	0	0	0	1	0	14	188					G	30887978	A	G	30887978	3	3	435	1	0	0	0	0	1	0	0	0	2636	391	14	4	2710	4	CAPRIN2	12	30887978	Missense_Mutation	SNP	A	TCGA-XK-AAIW-01A-11D-A41K-08	1257489	30887978	102963917	5617	26542											
DDX11	1663	broad.mit.edu	37	chr12	31236825	31236825	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaagcgtgaagaagaggcaCgactccttgaaactggaact	15	6	12	8	2	0	5	0	2	0	3	1	7	1	6	1	2	3	1	1	2	5	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:31236825C>T	ENST00000407793.2	+	3	474	c.223C>T	c.(223-225)Cga>Tga	p.R75*	DDX11_ENST00000545668.1_Nonsense_Mutation_p.R75*|DDX11_ENST00000228264.6_Nonsense_Mutation_p.R49*|DDX11_ENST00000542838.1_Nonsense_Mutation_p.R75*|DDX11_ENST00000251758.5_Nonsense_Mutation_p.R75*|DDX11_ENST00000350437.4_Nonsense_Mutation_p.R75*	NM_030653.3|NM_152438.1	NP_085911.2|NP_689651.1	Q96FC9	DDX11_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11	75	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|ATP catabolic process (GO:0006200)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|sister chromatid cohesion (GO:0007062)|viral process (GO:0016032)	midbody (GO:0030496)|nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle pole (GO:0000922)	4 iron, 4 sulfur cluster binding (GO:0051539)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA-dependent ATPase activity (GO:0008094)|double-stranded DNA binding (GO:0003690)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(11)|large_intestine(5)|lung(23)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	57	all_cancers(9;1.77e-11)|all_lung(12;6.21e-11)|all_epithelial(9;6.49e-11)|Lung NSC(12;1.06e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233)					AGAAGAGGCACGACTCCTTGA	0.517										Multiple Myeloma(12;0.14)																												ENST00000251758.5																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(11)|large_intestine(5)|lung(23)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	57						c.(223-225)Cga>Tga		DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11							43	51	48					12																	31236825		2203	4297	6500	SO:0001587	stop_gained	1663				G2/M transition of mitotic cell cycle|interspecies interaction between organisms|mitotic sister chromatid segregation|positive regulation of cell proliferation|S phase of mitotic cell cycle|sister chromatid cohesion	midbody|nuclear chromatin|nucleolus|spindle pole	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|RNA binding	g.chr12:31236825C>T	U75969	CCDS8721.1, CCDS41767.1, CCDS44856.1, CCDS58224.1	12p11.21	2012-02-23	2012-02-23		ENSG00000013573	ENSG00000013573		"DEAD-boxes"	2736	protein-coding gene	gene with protein product	"CHL1-like helicase homolog (S. cerevisiae)"	601150	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11 (S.cerevisiae CHL1-like helicase)", "DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11"				Standard	NM_030653		Approved	CHLR1, KRG2, CHL1, ChlR1, WABS	uc001rjv.2	Q96FC9	OTTHUMG00000168435	ENST00000407793.2:c.223C>T	12.37:g.31236825C>T	ENSP00000384703:p.Arg75*	Multiple Myeloma(12;0.14)				DDX11_ENST00000542838.1_Nonsense_Mutation_p.R75*|DDX11_ENST00000407793.2_Nonsense_Mutation_p.R75*|DDX11_ENST00000545668.1_Nonsense_Mutation_p.R75*|DDX11_ENST00000350437.4_Nonsense_Mutation_p.R75*|DDX11_ENST00000228264.6_Nonsense_Mutation_p.R49*	p.R75*			Q96FC9	DDX11_HUMAN			3	474	+	all_cancers(9;1.77e-11)|all_lung(12;6.21e-11)|all_epithelial(9;6.49e-11)|Lung NSC(12;1.06e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233)		75			Helicase ATP-binding.		Q13333|Q86VQ4|Q86W62|Q92498|Q92770|Q92998|Q92999	Nonsense_Mutation	SNP	ENST00000407793.2	37	c.223C>T	CCDS44856.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.273624	0.80580	.	.	ENSG00000013573	ENST00000542838;ENST00000407793;ENST00000251758;ENST00000228264;ENST00000438391;ENST00000415475;ENST00000545668;ENST00000350437;ENST00000535317	.	.	.	4.48	2.63	0.31362	.	0.542064	0.18883	N	0.128532	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.12103	T	0.63	.	7.7961	0.29148	0.0:0.7419:0.1643:0.0938	.	.	.	.	X	75;75;75;49;75;49;75;75;111	.	ENSP00000228264:R49X	R	+	1	2	DDX11	31128092	0.005000	0.15991	0.018000	0.16275	0.512000	0.34134	1.293000	0.33353	0.503000	0.28060	0.430000	0.28490	CGA		0.517	DDX11-202	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000399728.1	NM_030653		21	38	0	0	0	1	0	21	38					T	31236825	C	T	31236825	4	4	435	1	0	0	0	0	0	1	0	0	4343	528	19	1	229	1	DDX11	12	31236825	Nonsense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	348847	31236825	102615070	5618	26543											
DENND5B	160518	broad.mit.edu	37	chr12	31545313	31545313	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttttctccacacagcaacacGgtgaggcttcctctctgtgg	7	12	9	13	1	2	1	0	1	2	0	5	1	3	1	2	3	2	2	2	3	1	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:31545313G>A	ENST00000389082.5	-	19	3618	c.3354C>T	c.(3352-3354)acC>acT	p.T1118T	DENND5B_ENST00000536562.1_Silent_p.T1153T|DENND5B_ENST00000306833.6_Silent_p.T1153T	NM_144973.3	NP_659410.3	Q6ZUT9	DEN5B_HUMAN	DENN/MADD domain containing 5B	1118	RUN 2. {ECO:0000255|PROSITE- ProRule:PRU00178}.				positive regulation of Rab GTPase activity (GO:0032851)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						ACAGCAACACGGTGAGGCTTC	0.463																																						ENST00000389082.5																			0				NS(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						c.(3352-3354)acC>acT		DENN/MADD domain containing 5B							54	52	52					12																	31545313		1917	4119	6036	SO:0001819	synonymous_variant	160518					integral to membrane		g.chr12:31545313G>A	AF086301	CCDS44857.1	12p11.21	2012-10-03			ENSG00000170456	ENSG00000170456		"DENN/MADD domain containing"	28338	protein-coding gene	gene with protein product						12477932	Standard	NM_144973		Approved	MGC24039	uc001rki.1	Q6ZUT9	OTTHUMG00000169034	ENST00000389082.5:c.3354C>T	12.37:g.31545313G>A						DENND5B_ENST00000536562.1_Silent_p.T1153T|DENND5B_ENST00000306833.6_Silent_p.T1153T	p.T1118T	NM_144973.3	NP_659410.3	Q6ZUT9	DEN5B_HUMAN			19	3618	-			1118			RUN 2.		B5ME75|Q59FW8|Q68CZ7|Q6NUJ0|Q7Z3F9|Q8N973|Q8WUC8	Silent	SNP	ENST00000389082.5	37	c.3354C>T	CCDS44857.1																																																																																				0.463	DENND5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402040.1	NM_144973		13	19	0	0	0	1	0	13	19					A	31545313	G	A	31545313	2	1	435	1	0	0	0	0	0	0	0	1	4437	1103	39	2		2	DENND5B	12	31545313	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	308488	31545313	102306582	5619	26544											
DENND5B	160518	broad.mit.edu	37	chr12	31600654	31600654	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acatctgtgtttcaatgaagCgtgaaagaaatggcaggtaa	15	10	11	5	1	2	3	1	2	1	1	2	3	2	3	0	2	1	3	0	2	5	2	rs187370070		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:31600654C>T	ENST00000389082.5	-	6	1943	c.1679G>A	c.(1678-1680)cGc>cAc	p.R560H	snoU13_ENST00000458765.1_RNA|DENND5B_ENST00000354285.4_Missense_Mutation_p.R582H|DENND5B_ENST00000536562.1_Missense_Mutation_p.R595H|DENND5B_ENST00000306833.6_Missense_Mutation_p.R595H	NM_144973.3	NP_659410.3	Q6ZUT9	DEN5B_HUMAN	DENN/MADD domain containing 5B	560	dDENN. {ECO:0000255|PROSITE- ProRule:PRU00306}.				positive regulation of Rab GTPase activity (GO:0032851)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						TTCAATGAAGCGTGAAAGAAA	0.403													C|||	1	0.000199681	0	0	5008	,	,		19474	0.001		0	False		,,,				2504	0					ENST00000389082.5																			0				NS(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						c.(1678-1680)cGc>cAc		DENN/MADD domain containing 5B							45	46	45					12																	31600654		1870	4108	5978	SO:0001583	missense	160518					integral to membrane		g.chr12:31600654C>T	AF086301	CCDS44857.1	12p11.21	2012-10-03			ENSG00000170456	ENSG00000170456		"DENN/MADD domain containing"	28338	protein-coding gene	gene with protein product						12477932	Standard	NM_144973		Approved	MGC24039	uc001rki.1	Q6ZUT9	OTTHUMG00000169034	ENST00000389082.5:c.1679G>A	12.37:g.31600654C>T	ENSP00000373734:p.Arg560His					DENND5B_ENST00000354285.4_Missense_Mutation_p.R582H|DENND5B_ENST00000536562.1_Missense_Mutation_p.R595H|DENND5B_ENST00000306833.6_Missense_Mutation_p.R595H	p.R560H	NM_144973.3	NP_659410.3	Q6ZUT9	DEN5B_HUMAN			6	1943	-			560			dDENN.		B5ME75|Q59FW8|Q68CZ7|Q6NUJ0|Q7Z3F9|Q8N973|Q8WUC8	Missense_Mutation	SNP	ENST00000389082.5	37	c.1679G>A	CCDS44857.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	13.77	2.337437	0.41398	.	.	ENSG00000170456	ENST00000389082;ENST00000306833;ENST00000536562;ENST00000354285	T;T;T;T	0.46819	0.86;0.86;0.86;0.86	4.84	3.87	0.44632	dDENN (3);	0.137725	0.48767	D	0.000169	T	0.30885	0.0779	N	0.25647	0.755	0.42707	D	0.99363	B;B;B	0.21753	0.027;0.014;0.06	B;B;B	0.20955	0.013;0.032;0.019	T	0.14035	-1.0487	10	0.38643	T	0.18	-4.436	7.1591	0.25654	0.0:0.8156:0.0:0.1844	.	582;560;595	Q6ZUT9-4;Q6ZUT9;G3V1S3	.;DEN5B_HUMAN;.	H	560;595;595;582	ENSP00000373734:R560H;ENSP00000306482:R595H;ENSP00000444889:R595H;ENSP00000346238:R582H	ENSP00000306482:R595H	R	-	2	0	DENND5B	31491921	0.999000	0.42202	1.000000	0.80357	0.998000	0.95712	0.702000	0.25631	2.518000	0.84900	0.563000	0.77884	CGC		0.403	DENND5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402040.1	NM_144973		5	9	0	0	0	1	0	5	9					T	31600654	C	T	31600654	3	4	435	1	0	0	0	0	1	0	0	0	4437	768	27	1	2209	1	DENND5B	12	31600654	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	55341	31600654	102251241	5620	26545											
H3F3C	440093	broad.mit.edu	37	chr12	31944876	31944876	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aggtcagtgttgaaatcctgCgcgatctccctcaccaacct	9	10	8	14	2	3	1	2	1	1	0	5	2	4	1	4	1	2	1	4	1	2	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:31944876C>T	ENST00000340398.3	-	1	299	c.225G>A	c.(223-225)gcG>gcA	p.A75A		NM_001013699.2	NP_001013721.2	Q6NXT2	H3C_HUMAN	H3 histone, family 3C	75					positive regulation of cell growth (GO:0030307)	nuclear euchromatin (GO:0005719)|nucleosome (GO:0000786)	nucleosomal DNA binding (GO:0031492)			endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|skin(2)|upper_aerodigestive_tract(2)	18						TGAAATCCTGCGCGATCTCCC	0.592										HNSCC(67;0.2)																												ENST00000340398.3																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|skin(2)|upper_aerodigestive_tract(2)	18						c.(223-225)gcG>gcA		H3 histone, family 3C							111	103	106					12																	31944876		2203	4300	6503	SO:0001819	synonymous_variant	440093				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr12:31944876C>T	BC066906	CCDS31769.1	12p11.21	2012-02-15			ENSG00000188375	ENSG00000188375		"Histones / Replication-independent"	33164	protein-coding gene	gene with protein product						21274551	Standard	NM_001013699		Approved	H3.5	uc001rkr.3	Q6NXT2	OTTHUMG00000157811	ENST00000340398.3:c.225G>A	12.37:g.31944876C>T		HNSCC(67;0.2)					p.A75A	NM_001013699.2	NP_001013721.2	Q6NXT2	H3C_HUMAN			1	299	-			75					E9P281	Silent	SNP	ENST00000340398.3	37	c.225G>A	CCDS31769.1																																																																																				0.592	H3F3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349653.1	NM_001013699		20	37	0	0	0	1	0	20	37					T	31944876	C	T	31944876	2	4	435	1	0	0	0	0	0	0	0	1	6935	755	27	1		1	H3F3C	12	31944876	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	344222	31944876	101907019	5621	26546											
C12orf35	55196	broad.mit.edu	37	chr12	32136765	32136765	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tggttttcaaaaagataaacCtgtacagtgcacagatgttt	14	13	8	6	0	1	2	1	0	0	2	1	2	1	2	1	1	3	4	1	1	5	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:32136765C>A	ENST00000312561.4	+	4	3290	c.2876C>A	c.(2875-2877)cCt>cAt	p.P959H	KIAA1551_ENST00000535596.1_Intron	NM_018169.3	NP_060639	Q9HCM1	K1551_HUMAN	KIAA1551	959																	AAAGATAAACCTGTACAGTGC	0.358																																						ENST00000312561.4																			0											c.(2875-2877)cCt>cAt		KIAA1551							44	46	45					12																	32136765		2203	4299	6502	SO:0001583	missense	55196							g.chr12:32136765C>A	AK001514	CCDS8725.2	12p11.21	2012-08-14	2012-08-14	2012-08-14	ENSG00000174718	ENSG00000174718			25559	protein-coding gene	gene with protein product			"chromosome 12 open reading frame 35"	C12orf35		10997877	Standard	NM_018169		Approved	FLJ20696, FLJ10652	uc001rks.3	Q9HCM1	OTTHUMG00000128501	ENST00000312561.4:c.2876C>A	12.37:g.32136765C>A	ENSP00000310338:p.Pro959His					KIAA1551_ENST00000535596.1_Intron	p.P959H	NM_018169.3	NP_060639.3					4	3290	+								B2RTU5|Q4KN17|Q9NVL6|Q9NWP9	Missense_Mutation	SNP	ENST00000312561.4	37	c.2876C>A	CCDS8725.2	.	.	.	.	.	.	.	.	.	.	C	10.92	1.486484	0.26686	.	.	ENSG00000174718	ENST00000312561	T	0.11277	2.79	5.7	-10.5	0.00291	.	1.867290	0.02456	N	0.086047	T	0.06826	0.0174	N	0.22421	0.69	0.09310	N	1	P	0.47034	0.889	P	0.45449	0.481	T	0.35943	-0.9768	9	.	.	.	.	4.0724	0.09889	0.172:0.098:0.4582:0.2718	.	959	Q9HCM1	CL035_HUMAN	H	959	ENSP00000310338:P959H	.	P	+	2	0	C12orf35	32028032	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.247000	0.02893	-1.849000	0.01171	-0.882000	0.02950	CCT		0.358	KIAA1551-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250307.2	NM_018169		35	33	1	0	3.93418e-24	1	4.38783e-24	35	33					A	32136765	C	A	32136765	3	1	435	1	0	0	0	0	1	0	0	0	1682	681	24	5	2878	5	C12orf35	12	32136765	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	191889	32136765	101715130	5622	26547											
C12orf35	55196	broad.mit.edu	37	chr12	32138032	32138032	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cgaaagttagaccaagggaaCgtattagatatggaagtaaa	18	8	11	4	2	0	2	0	0	0	2	0	5	0	4	1	2	1	3	1	2	10	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:32138032C>T	ENST00000312561.4	+	4	4557	c.4143C>T	c.(4141-4143)aaC>aaT	p.N1381N	KIAA1551_ENST00000535596.1_Intron	NM_018169.3	NP_060639	Q9HCM1	K1551_HUMAN	KIAA1551	1381																	ACCAAGGGAACGTATTAGATA	0.343																																						ENST00000312561.4																			0											c.(4141-4143)aaC>aaT		KIAA1551							65	68	67					12																	32138032		2202	4299	6501	SO:0001819	synonymous_variant	55196							g.chr12:32138032C>T	AK001514	CCDS8725.2	12p11.21	2012-08-14	2012-08-14	2012-08-14	ENSG00000174718	ENSG00000174718			25559	protein-coding gene	gene with protein product			"chromosome 12 open reading frame 35"	C12orf35		10997877	Standard	NM_018169		Approved	FLJ20696, FLJ10652	uc001rks.3	Q9HCM1	OTTHUMG00000128501	ENST00000312561.4:c.4143C>T	12.37:g.32138032C>T						KIAA1551_ENST00000535596.1_Intron	p.N1381N	NM_018169.3	NP_060639.3					4	4557	+								B2RTU5|Q4KN17|Q9NVL6|Q9NWP9	Silent	SNP	ENST00000312561.4	37	c.4143C>T	CCDS8725.2																																																																																				0.343	KIAA1551-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250307.2	NM_018169		5	42	0	0	0	1	0	5	42					T	32138032	C	T	32138032	2	4	435	1	0	0	0	0	0	0	0	1	1682	535	19	1		1	C12orf35	12	32138032	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	1267	32138032	101713863	5623	26548											
C12orf35	55196	broad.mit.edu	37	chr12	32138302	32138302	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aagaaaatctgtgtgaaaaaCgtgccatgtgattctgaaca	16	10	9	6	1	2	4	0	3	2	1	2	4	2	4	1	0	3	0	1	0	6	1	rs138560989		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:32138302C>T	ENST00000312561.4	+	4	4827	c.4413C>T	c.(4411-4413)aaC>aaT	p.N1471N	KIAA1551_ENST00000535596.1_Intron	NM_018169.3	NP_060639	Q9HCM1	K1551_HUMAN	KIAA1551	1471																	GTGTGAAAAACGTGCCATGTG	0.398																																						ENST00000312561.4																			0											c.(4411-4413)aaC>aaT		KIAA1551		T		1,4399		0,1,2199	57	59	58		4413	-6.8	0	12	dbSNP_134	58	0,8596		0,0,4298	no	coding-synonymous	C12orf35	NM_018169.3		0,1,6497	TT,TC,CC		0.0,0.0227,0.0077		1471/1748	32138302	1,12995	2200	4298	6498	SO:0001819	synonymous_variant	55196							g.chr12:32138302C>T	AK001514	CCDS8725.2	12p11.21	2012-08-14	2012-08-14	2012-08-14	ENSG00000174718	ENSG00000174718			25559	protein-coding gene	gene with protein product			"chromosome 12 open reading frame 35"	C12orf35		10997877	Standard	NM_018169		Approved	FLJ20696, FLJ10652	uc001rks.3	Q9HCM1	OTTHUMG00000128501	ENST00000312561.4:c.4413C>T	12.37:g.32138302C>T						KIAA1551_ENST00000535596.1_Intron	p.N1471N	NM_018169.3	NP_060639.3					4	4827	+								B2RTU5|Q4KN17|Q9NVL6|Q9NWP9	Silent	SNP	ENST00000312561.4	37	c.4413C>T	CCDS8725.2																																																																																				0.398	KIAA1551-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250307.2	NM_018169		25	40	0	0	0	1	0	25	40					T	32138302	C	T	32138302	2	4	435	1	0	0	0	0	0	0	0	1	1682	535	19	1		1	C12orf35	12	32138302	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	270	32138302	101713593	5624	26549											
DNM1L	10059	broad.mit.edu	37	chr12	32886741	32886741	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctaatgaacaataatatagaGgtaaatataattcttaaatg	20	13	5	3	0	1	2	0	1	1	1	1	2	1	2	0	1	1	1	0	1	12	9			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:32886741G>A	ENST00000549701.1	+	13	1613	c.1539G>A	c.(1537-1539)gaG>gaA	p.E513E	YARS2_ENST00000551673.1_Intron|DNM1L_ENST00000414834.2_Splice_Site_p.E310E|DNM1L_ENST00000553257.1_Splice_Site_p.E526E|DNM1L_ENST00000452533.2_Splice_Site_p.E513E|DNM1L_ENST00000381000.4_Splice_Site_p.E526E|DNM1L_ENST00000547312.1_Splice_Site_p.E513E|DNM1L_ENST00000358214.5_Splice_Site_p.E526E|DNM1L_ENST00000266481.6_Splice_Site_p.E513E			O00429	DNM1L_HUMAN	dynamin 1-like	513	B domain.|Interaction with GSK3B.				apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|dynamin polymerization involved in mitochondrial fission (GO:0003374)|endocytosis (GO:0006897)|GTP catabolic process (GO:0006184)|membrane fission involved in mitochondrial fission (GO:0090149)|membrane fusion (GO:0061025)|mitochondrial fission (GO:0000266)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|mitochondrion morphogenesis (GO:0070584)|necroptotic process (GO:0070266)|peroxisome fission (GO:0016559)|positive regulation of apoptotic process (GO:0043065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial fission (GO:0090141)|positive regulation of protein secretion (GO:0050714)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|protein homotetramerization (GO:0051289)|protein localization to mitochondrion (GO:0070585)|regulation of mitochondrion organization (GO:0010821)|regulation of peroxisome organization (GO:1900063)|regulation of protein oligomerization (GO:0032459)|release of cytochrome c from mitochondria (GO:0001836)	cell junction (GO:0030054)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|microtubule (GO:0005874)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|perinuclear region of cytoplasm (GO:0048471)|peroxisome (GO:0005777)|protein complex (GO:0043234)|synapse (GO:0045202)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|lipid binding (GO:0008289)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	23	Lung NSC(5;2.15e-06)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)					ATAATATAGAGGTAAATATAA	0.313																																						ENST00000452533.2																			0				cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	23						c.e13+1		dynamin 1-like							113	118	117					12																	32886741		2203	4298	6501	SO:0001630	splice_region_variant	10059				cellular component disassembly involved in apoptosis|mitochondrial fragmentation involved in apoptosis|mitochondrial membrane organization|positive regulation of mitochondrial fission	cis-Golgi network|cytosol|endomembrane system|endoplasmic reticulum|mitochondrial outer membrane	GTP binding|GTPase activity|ubiquitin protein ligase binding	g.chr12:32886741G>A	AF000430	CCDS8728.1, CCDS8729.1, CCDS8730.1, CCDS61095.1, CCDS61096.1, CCDS61098.1, CCDS61099.1	12p11.21	2012-10-02			ENSG00000087470	ENSG00000087470			2973	protein-coding gene	gene with protein product		603850				9348079, 9731200	Standard	NM_012062		Approved	DRP1, DVLP, HDYNIV, DYMPLE, VPS1	uc001rld.2	O00429	OTTHUMG00000169451	ENST00000549701.1:c.1539+1G>A	12.37:g.32886741G>A						YARS2_ENST00000551673.1_Intron|DNM1L_ENST00000549701.1_Splice_Site_p.E513_splice|DNM1L_ENST00000553257.1_Splice_Site_p.E526_splice|DNM1L_ENST00000547312.1_Splice_Site_p.E513_splice|DNM1L_ENST00000381000.4_Splice_Site_p.E526_splice|DNM1L_ENST00000414834.2_Splice_Site_p.E310_splice|DNM1L_ENST00000358214.5_Splice_Site_p.E526_splice|DNM1L_ENST00000266481.6_Splice_Site_p.E513_splice	p.E513_splice	NM_012062.3|NM_012063.2	NP_036192.2|NP_036193.2	O00429	DNM1L_HUMAN			13	1703	+	Lung NSC(5;2.15e-06)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)		513			B domain.|Interaction with GSK3B.		A8K4X9|B4DGC9|B4DSU8|J3KPI2|O14541|O60709|Q59GN9|Q7L6B3|Q8TBT7|Q9BWM1|Q9Y5J2	Splice_Site	SNP	ENST00000549701.1	37	c.1539_splice	CCDS8729.1																																																																																				0.313	DNM1L-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000404124.1	NM_012062	Silent	52	62	0	0	0	1	0	52	62					A	32886741	G	A	32886741	5	1	435	1	0	0	0	0	0	0	1	0	4671	1014	35	3	1589	3	DNM1L	12	32886741	Splice_Site	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	748439	32886741	100965154	5625	26550											
YARS2	51067	broad.mit.edu	37	chr12	32903660	32903660	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	actaaactactaccttttagCagaatccaatccttctcgtc	12	13	3	13	1	1	1	0	0	1	1	5	1	3	1	3	0	4	1	3	0	7	6			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:32903660C>T	ENST00000324868.8	-	3	1123	c.1096G>A	c.(1096-1098)Gct>Act	p.A366T	YARS2_ENST00000551673.1_5'Flank	NM_001040436.2	NP_001035526.1	Q9Y2Z4	SYYM_HUMAN	tyrosyl-tRNA synthetase 2, mitochondrial	366					gene expression (GO:0010467)|mitochondrial tyrosyl-tRNA aminoacylation (GO:0070184)|translation (GO:0006412)|tRNA aminoacylation (GO:0043039)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|tRNA binding (GO:0000049)|tyrosine binding (GO:0072545)|tyrosine-tRNA ligase activity (GO:0004831)			endometrium(1)|large_intestine(4)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	16	Lung NSC(5;2.43e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)				L-Tyrosine(DB00135)	TACCTTTTAGCAGAATCCAAT	0.403																																						ENST00000324868.8																			0				endometrium(1)|large_intestine(4)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	16						c.(1096-1098)Gct>Act		tyrosyl-tRNA synthetase 2, mitochondrial	L-Tyrosine(DB00135)						132	115	121					12																	32903660		2203	4300	6503	SO:0001583	missense	51067				tyrosyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|protein binding|RNA binding|tyrosine-tRNA ligase activity	g.chr12:32903660C>T	AF132939	CCDS31770.1	12p11.21	2014-03-19	2007-02-23		ENSG00000139131	ENSG00000139131	6.1.1.1	"Aminoacyl tRNA synthetases / Class I"	24249	protein-coding gene	gene with protein product	"tyrosine tRNA ligase 2, mitochondrial"	610957				15779907, 15840810	Standard	NM_001040436		Approved	FLJ13995, CGI-04, mt-TyrRS	uc001rli.3	Q9Y2Z4	OTTHUMG00000169454	ENST00000324868.8:c.1096G>A	12.37:g.32903660C>T	ENSP00000320658:p.Ala366Thr						p.A366T	NM_001040436.2	NP_001035526.1	Q9Y2Z4	SYYM_HUMAN			3	1123	-	Lung NSC(5;2.43e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)		366					D3DUW8|Q9H817	Missense_Mutation	SNP	ENST00000324868.8	37	c.1096G>A	CCDS31770.1	.	.	.	.	.	.	.	.	.	.	C	32	5.182219	0.94885	.	.	ENSG00000139131	ENST00000324868	T	0.55760	0.5	5.06	5.06	0.68205	.	0.000000	0.85682	D	0.000000	T	0.76990	0.4065	M	0.90082	3.085	0.80722	D	1	D	0.71674	0.998	D	0.67725	0.953	T	0.82559	-0.0397	10	0.87932	D	0	-18.7732	16.9729	0.86305	0.0:1.0:0.0:0.0	.	366	Q9Y2Z4	SYYM_HUMAN	T	366	ENSP00000320658:A366T	ENSP00000320658:A366T	A	-	1	0	YARS2	32794927	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	7.234000	0.78134	2.515000	0.84797	0.650000	0.86243	GCT		0.403	YARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404153.1	NM_015936		13	36	0	0	0	1	0	13	36					T	32903660	C	T	32903660	3	4	435	1	0	0	0	0	1	0	0	0	17465	710	25	3	349	3	YARS2	12	32903660	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	16919	32903660	100948235	5626	26551											
PKP2	5318	broad.mit.edu	37	chr12	33031411	33031411	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caaggacctttcttccacggActtctgggagctgtactgtg	7	12	11	11	1	2	0	0	0	2	0	3	3	3	3	2	3	2	2	2	3	2	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:33031411A>G	ENST00000070846.6	-	3	427	c.403T>C	c.(403-405)Tcc>Ccc	p.S135P	PKP2_ENST00000340811.4_Missense_Mutation_p.S135P	NM_004572.3	NP_004563.2	Q99959	PKP2_HUMAN	plakophilin 2	135					adherens junction maintenance (GO:0034334)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cardiac muscle cell action potential (GO:0086001)|cardiac muscle cell action potential involved in contraction (GO:0086002)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cell-cell signaling involved in cardiac conduction (GO:0086019)|desmosome assembly (GO:0002159)|gap junction assembly (GO:0016264)|heart development (GO:0007507)|intermediate filament bundle assembly (GO:0045110)|lipid homeostasis (GO:0055088)|maintenance of organ identity (GO:0048496)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|positive regulation of sodium ion transport (GO:0010765)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of tight junction assembly (GO:2000810)|single organismal cell-cell adhesion (GO:0016337)|ventricular cardiac muscle cell action potential (GO:0086005)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	adherens junction (GO:0005912)|cell junction (GO:0030054)|cell-cell junction (GO:0005911)|desmosome (GO:0030057)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|intermediate filament (GO:0005882)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	intermediate filament binding (GO:0019215)|ion channel binding (GO:0044325)|protein complex scaffold (GO:0032947)|protein kinase C binding (GO:0005080)|sodium channel regulator activity (GO:0017080)			NS(1)|breast(2)|endometrium(1)|kidney(9)|large_intestine(8)|lung(21)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	50	Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)					TCTTCCACGGACTTCTGGGAG	0.532																																						ENST00000340811.4																			0				NS(1)|breast(2)|endometrium(1)|kidney(9)|large_intestine(8)|lung(21)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	50						c.(403-405)Tcc>Ccc		plakophilin 2							192	195	194					12																	33031411		2203	4300	6503	SO:0001583	missense	5318				cell-cell adhesion	desmosome|integral to membrane|nucleus	binding	g.chr12:33031411A>G	X97675	CCDS8731.1, CCDS31771.1	12p11	2014-09-17				ENSG00000057294		"Armadillo repeat containing"	9024	protein-coding gene	gene with protein product		602861				8922383	Standard	NM_001005242		Approved		uc001rlj.4	Q99959	OTTHUMG00000169500	ENST00000070846.6:c.403T>C	12.37:g.33031411A>G	ENSP00000070846:p.Ser135Pro					PKP2_ENST00000070846.6_Missense_Mutation_p.S135P	p.S135P	NM_001005242.2	NP_001005242.2	Q99959	PKP2_HUMAN			3	511	-	Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)		135					A0AV37|B8QFA1|B8QGS6|B8QGS7|D3DUW9|Q4VC01|Q99960	Missense_Mutation	SNP	ENST00000070846.6	37	c.403T>C	CCDS8731.1	.	.	.	.	.	.	.	.	.	.	A	15.78	2.933482	0.52866	.	.	ENSG00000057294	ENST00000340811;ENST00000070846;ENST00000537278	D;D	0.83591	-1.74;-1.72	4.76	4.76	0.60689	.	0.664574	0.13228	N	0.403874	D	0.82870	0.5131	M	0.61703	1.905	0.39627	D	0.970122	D;P;D	0.54397	0.958;0.93;0.966	P;B;P	0.50440	0.571;0.368;0.641	T	0.80924	-0.1165	10	0.38643	T	0.18	-3.7797	5.7898	0.18353	0.6645:0.171:0.0:0.1645	.	135;135;135	Q99959-2;A0AV37;Q99959	.;.;PKP2_HUMAN	P	135	ENSP00000342800:S135P;ENSP00000070846:S135P	ENSP00000070846:S135P	S	-	1	0	PKP2	32922678	1.000000	0.71417	0.988000	0.46212	0.717000	0.41224	2.529000	0.45632	1.770000	0.52166	0.529000	0.55759	TCC		0.532	PKP2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000404449.1	NM_004572		5	185	0	0	0	1	0	5	185					G	33031411	A	G	33031411	3	3	435	1	0	0	0	0	1	0	0	0	11985	275	10	4	2290	4	PKP2	12	33031411	Missense_Mutation	SNP	A	TCGA-XK-AAIW-01A-11D-A41K-08	127751	33031411	100820484	5627	26552											
SYT10	341359	broad.mit.edu	37	chr12	33529798	33529798	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggtggtttaggagaagggcaGgatccttgactatcaaaact	12	10	13	6	0	1	2	1	1	0	1	2	4	2	3	1	5	1	2	1	5	5	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:33529798G>A	ENST00000228567.3	-	7	1835	c.1539C>T	c.(1537-1539)tcC>tcT	p.S513S	SYT10_ENST00000535526.1_Silent_p.S332S	NM_198992.3	NP_945343.1	Q6XYQ8	SYT10_HUMAN	synaptotagmin X	513					regulation of calcium ion-dependent exocytosis (GO:0017158)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|synaptic vesicle (GO:0008021)	metal ion binding (GO:0046872)|transporter activity (GO:0005215)			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(3)|skin(4)|urinary_tract(1)	42	Lung NSC(5;8.37e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0334)					GAGAAGGGCAGGATCCTTGAC	0.403																																						ENST00000228567.3																			0				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(3)|skin(4)|urinary_tract(1)	42						c.(1537-1539)tcC>tcT		synaptotagmin X							143	138	140					12																	33529798		2203	4300	6503	SO:0001819	synonymous_variant	341359					cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity	g.chr12:33529798G>A	AY198413	CCDS8732.1	12p11	2013-01-21			ENSG00000110975	ENSG00000110975		"Synaptotagmins"	19266	protein-coding gene	gene with protein product							Standard	NM_198992		Approved		uc001rll.1	Q6XYQ8	OTTHUMG00000169269	ENST00000228567.3:c.1539C>T	12.37:g.33529798G>A						SYT10_ENST00000535526.1_Silent_p.S332S	p.S513S	NM_198992.3	NP_945343.1	Q6XYQ8	SYT10_HUMAN			7	1835	-	Lung NSC(5;8.37e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0334)		513					Q495U2	Silent	SNP	ENST00000228567.3	37	c.1539C>T	CCDS8732.1																																																																																				0.403	SYT10-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403222.1	NM_198992		5	21	0	0	0	1	0	5	21					A	33529798	G	A	33529798	2	1	435	1	0	0	0	0	0	0	0	1	15463	987	35	3		3	SYT10	12	33529798	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	498387	33529798	100322097	5628	26553											
SYT10	341359	broad.mit.edu	37	chr12	33592426	33592426	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagagccttctggcacagaCtgttcactccgtcctccttg	6	11	9	15	1	2	2	1	0	1	2	5	2	5	2	4	1	1	3	4	1	0	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:33592426C>T	ENST00000228567.3	-	1	328	c.32G>A	c.(31-33)aGt>aAt	p.S11N	SYT10_ENST00000535526.1_5'UTR	NM_198992.3	NP_945343.1	Q6XYQ8	SYT10_HUMAN	synaptotagmin X	11					regulation of calcium ion-dependent exocytosis (GO:0017158)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|synaptic vesicle (GO:0008021)	metal ion binding (GO:0046872)|transporter activity (GO:0005215)			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(3)|skin(4)|urinary_tract(1)	42	Lung NSC(5;8.37e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0334)					CTGGCACAGACTGTTCACTCC	0.547																																						ENST00000228567.3																			0				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(3)|skin(4)|urinary_tract(1)	42						c.(31-33)aGt>aAt		synaptotagmin X							262	237	246					12																	33592426		2203	4300	6503	SO:0001583	missense	341359					cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity	g.chr12:33592426C>T	AY198413	CCDS8732.1	12p11	2013-01-21			ENSG00000110975	ENSG00000110975		"Synaptotagmins"	19266	protein-coding gene	gene with protein product							Standard	NM_198992		Approved		uc001rll.1	Q6XYQ8	OTTHUMG00000169269	ENST00000228567.3:c.32G>A	12.37:g.33592426C>T	ENSP00000228567:p.Ser11Asn					SYT10_ENST00000535526.1_5'UTR	p.S11N	NM_198992.3	NP_945343.1	Q6XYQ8	SYT10_HUMAN			1	328	-	Lung NSC(5;8.37e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0334)		11					Q495U2	Missense_Mutation	SNP	ENST00000228567.3	37	c.32G>A	CCDS8732.1	.	.	.	.	.	.	.	.	.	.	C	16.25	3.069778	0.55539	.	.	ENSG00000110975	ENST00000228567	T	0.46819	0.86	4.38	3.46	0.39613	.	0.140525	0.31976	U	0.006774	T	0.38295	0.1035	L	0.44542	1.39	0.80722	D	1	B	0.33512	0.415	B	0.31946	0.138	T	0.27640	-1.0068	10	0.45353	T	0.12	.	11.2098	0.48790	0.1847:0.8153:0.0:0.0	.	11	Q6XYQ8	SYT10_HUMAN	N	11	ENSP00000228567:S11N	ENSP00000228567:S11N	S	-	2	0	SYT10	33483693	1.000000	0.71417	0.866000	0.34008	0.826000	0.46750	3.078000	0.50096	1.099000	0.41499	0.650000	0.86243	AGT		0.547	SYT10-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403222.1	NM_198992		35	70	0	0	0	1	0	35	70					T	33592426	C	T	33592426	3	4	435	1	0	0	0	0	1	0	0	0	15463	565	20	3	1567	3	SYT10	12	33592426	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	62628	33592426	100259469	5629	26554											
ALG10B	144245	broad.mit.edu	37	chr12	38710823	38710823	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggacgagatcttccacctgcCtcaggcgcagcgctactgtg	7	8	12	14	3	2	1	1	0	1	1	3	3	3	2	3	2	3	2	3	2	1	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:38710823C>A	ENST00000308742.4	+	1	444	c.128C>A	c.(127-129)cCt>cAt	p.P43H	ALG10B_ENST00000551464.1_Missense_Mutation_p.P43H	NM_001013620.3	NP_001013642.1	Q5I7T1	AG10B_HUMAN	ALG10B, alpha-1,2-glucosyltransferase	43					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transferase activity, transferring hexosyl groups (GO:0016758)			breast(2)|kidney(3)|large_intestine(7)|lung(8)|ovary(4)|skin(1)	25	Esophageal squamous(101;0.187)	Lung NSC(34;0.204)|all_lung(34;0.235)				TTCCACCTGCCTCAGGCGCAG	0.637																																						ENST00000308742.4																			0				breast(2)|kidney(3)|large_intestine(7)|lung(8)|ovary(4)|skin(1)	25						c.(127-129)cCt>cAt		ALG10B, alpha-1,2-glucosyltransferase							152	159	157					12																	38710823		2203	4300	6503	SO:0001583	missense	144245				dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane|plasma membrane	dolichyl-phosphate-glucose-glycolipid alpha-glucosyltransferase activity	g.chr12:38710823C>A	AY845858	CCDS31772.1	12q12	2013-03-04	2013-03-04		ENSG00000175548	ENSG00000175548	2.4.1.256		31088	protein-coding gene	gene with protein product	"potassium channel regulator 1", "dolichyl-P-Glc:Glc(2)Man(9)GlcNAc(2)-PP-dolichol alpha-1,2- glucosyltransferase"		"asparagine-linked glycosylation 10, alpha-1,2-glucosyltransferase homolog B (yeast)"				Standard	NM_001013620		Approved	KCR1	uc001rln.4	Q5I7T1	OTTHUMG00000169298	ENST00000308742.4:c.128C>A	12.37:g.38710823C>A	ENSP00000310120:p.Pro43His					ALG10B_ENST00000551464.1_Missense_Mutation_p.P43H	p.P43H	NM_001013620.3	NP_001013642.1	Q5I7T1	AG10B_HUMAN			1	444	+	Esophageal squamous(101;0.187)	Lung NSC(34;0.204)|all_lung(34;0.235)	43					B2RPF4	Missense_Mutation	SNP	ENST00000308742.4	37	c.128C>A	CCDS31772.1	.	.	.	.	.	.	.	.	.	.	c	23.6	4.436971	0.83885	.	.	ENSG00000175548	ENST00000308742;ENST00000551464	T;T	0.57436	0.4;0.4	3.64	3.64	0.41730	.	0.000000	0.85682	D	0.000000	T	0.75079	0.3801	M	0.91459	3.21	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	T	0.79683	-0.1701	10	0.62326	D	0.03	.	11.129	0.48336	0.0:1.0:0.0:0.0	.	43	Q5I7T1	AG10B_HUMAN	H	43	ENSP00000310120:P43H;ENSP00000448819:P43H	ENSP00000310120:P43H	P	+	2	0	ALG10B	36997090	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.831000	0.75324	2.309000	0.77851	0.655000	0.94253	CCT		0.637	ALG10B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403349.1	NM_001013620		62	78	1	0	7.93275e-45	1	8.91933e-45	62	78					A	38710823	C	A	38710823	3	1	435	1	0	0	0	0	1	0	0	0	512	681	24	5	130	5	ALG10B	12	38710823	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	5118397	38710823	95141072	5630	26555											
ALG10B	144245	broad.mit.edu	37	chr12	38714692	38714692	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaagagtttttcaaagatatGcaattctgaaatatttgtta	16	16	6	3	0	2	3	1	1	1	2	2	3	2	3	0	0	1	3	0	0	7	7			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:38714692G>A	ENST00000308742.4	+	3	1415	c.1099G>A	c.(1099-1101)Gca>Aca	p.A367T	AC117372.1_ENST00000401168.2_RNA|ALG10B_ENST00000551464.1_Intron	NM_001013620.3	NP_001013642.1	Q5I7T1	AG10B_HUMAN	ALG10B, alpha-1,2-glucosyltransferase	367					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transferase activity, transferring hexosyl groups (GO:0016758)			breast(2)|kidney(3)|large_intestine(7)|lung(8)|ovary(4)|skin(1)	25	Esophageal squamous(101;0.187)	Lung NSC(34;0.204)|all_lung(34;0.235)				TCAAAGATATGCAATTCTGAA	0.299																																						ENST00000308742.4																			0				breast(2)|kidney(3)|large_intestine(7)|lung(8)|ovary(4)|skin(1)	25						c.(1099-1101)Gca>Aca		ALG10B, alpha-1,2-glucosyltransferase							78	82	81					12																	38714692		2201	4296	6497	SO:0001583	missense	144245				dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane|plasma membrane	dolichyl-phosphate-glucose-glycolipid alpha-glucosyltransferase activity	g.chr12:38714692G>A	AY845858	CCDS31772.1	12q12	2013-03-04	2013-03-04		ENSG00000175548	ENSG00000175548	2.4.1.256		31088	protein-coding gene	gene with protein product	"potassium channel regulator 1", "dolichyl-P-Glc:Glc(2)Man(9)GlcNAc(2)-PP-dolichol alpha-1,2- glucosyltransferase"		"asparagine-linked glycosylation 10, alpha-1,2-glucosyltransferase homolog B (yeast)"				Standard	NM_001013620		Approved	KCR1	uc001rln.4	Q5I7T1	OTTHUMG00000169298	ENST00000308742.4:c.1099G>A	12.37:g.38714692G>A	ENSP00000310120:p.Ala367Thr					ALG10B_ENST00000551464.1_Intron	p.A367T	NM_001013620.3	NP_001013642.1	Q5I7T1	AG10B_HUMAN			3	1415	+	Esophageal squamous(101;0.187)	Lung NSC(34;0.204)|all_lung(34;0.235)	367					B2RPF4	Missense_Mutation	SNP	ENST00000308742.4	37	c.1099G>A	CCDS31772.1	.	.	.	.	.	.	.	.	.	.	g	5.501	0.277502	0.10403	.	.	ENSG00000175548	ENST00000308742	T	0.54675	0.56	3.34	3.34	0.38264	.	0.403428	0.30134	N	0.010323	T	0.29458	0.0734	N	0.04959	-0.14	0.80722	D	1	B	0.09022	0.002	B	0.12156	0.007	T	0.09079	-1.0691	10	0.20519	T	0.43	.	12.9869	0.58596	0.0:0.0:1.0:0.0	.	367	Q5I7T1	AG10B_HUMAN	T	367	ENSP00000310120:A367T	ENSP00000310120:A367T	A	+	1	0	ALG10B	37000959	0.996000	0.38824	0.006000	0.13384	0.083000	0.17756	4.109000	0.57824	2.171000	0.68590	0.655000	0.94253	GCA		0.299	ALG10B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403349.1	NM_001013620		32	56	0	0	0	1	0	32	56					A	38714692	G	A	38714692	3	1	435	1	0	0	0	0	1	0	0	0	512	1319	46	3	1109	3	ALG10B	12	38714692	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	3869	38714692	95137203	5631	26556											
ALG10B	144245	broad.mit.edu	37	chr12	38714770	38714771	+	Frame_Shift_Ins	INS	-	-	T																															ctcattgaaatcaaagccaaINSttttttggaatttaatgttt																										TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:38714770_38714771insT	ENST00000308742.4	+	3	1493_1494	c.1177_1178insT	c.(1177-1179)attfs	p.I393fs	AC117372.1_ENST00000401168.2_RNA|ALG10B_ENST00000551464.1_Intron	NM_001013620.3	NP_001013642.1	Q5I7T1	AG10B_HUMAN	ALG10B, alpha-1,2-glucosyltransferase	393					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transferase activity, transferring hexosyl groups (GO:0016758)			breast(2)|kidney(3)|large_intestine(7)|lung(8)|ovary(4)|skin(1)	25	Esophageal squamous(101;0.187)	Lung NSC(34;0.204)|all_lung(34;0.235)				ATCAAAGCCAATTTTTTGGAAT	0.307																																						ENST00000308742.4																			0				breast(2)|kidney(3)|large_intestine(7)|lung(8)|ovary(4)|skin(1)	25						c.(1177-1179)tttfs		ALG10B, alpha-1,2-glucosyltransferase																																				SO:0001589	frameshift_variant	144245				dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane|plasma membrane	dolichyl-phosphate-glucose-glycolipid alpha-glucosyltransferase activity	g.chr12:38714770_38714771insT	AY845858	CCDS31772.1	12q12	2013-03-04	2013-03-04		ENSG00000175548	ENSG00000175548	2.4.1.256		31088	protein-coding gene	gene with protein product	"potassium channel regulator 1", "dolichyl-P-Glc:Glc(2)Man(9)GlcNAc(2)-PP-dolichol alpha-1,2- glucosyltransferase"		"asparagine-linked glycosylation 10, alpha-1,2-glucosyltransferase homolog B (yeast)"				Standard	NM_001013620		Approved	KCR1	uc001rln.4	Q5I7T1	OTTHUMG00000169298	ENST00000308742.4:c.1183dupT	12.37:g.38714776_38714776dupT	ENSP00000310120:p.Ile393fs					ALG10B_ENST00000551464.1_Intron	p.F393fs	NM_001013620.3	NP_001013642.1	Q5I7T1	AG10B_HUMAN			3	1493_1494	+	Esophageal squamous(101;0.187)	Lung NSC(34;0.204)|all_lung(34;0.235)	393					B2RPF4	Frame_Shift_Ins	INS	ENST00000308742.4	37	c.1177_1178insT	CCDS31772.1																																																																																				0.307	ALG10B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403349.1	NM_001013620		44	78						44	78	---	---	---	---	T	38714771	-	T	38714770	7	5	435	1	0	1	1	0	0	0	0	0	512	101	4	0	1187	0	ALG10B	12	38714770	Frame_Shift_Ins	INS	-	TCGA-XK-AAIW-01A-11D-A41K-08	78	38714770	95137125	5632	26557											
CPNE8	144402	broad.mit.edu	37	chr12	39047823	39047823	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctttagccaatctagccatgCtcagtatgtggtttccactt	8	15	7	11	0	2	0	1	0	1	0	3	0	3	0	3	1	3	3	3	1	4	6			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:39047823C>T	ENST00000331366.5	-	20	1652	c.1556G>A	c.(1555-1557)aGc>aAc	p.S519N	CPNE8_ENST00000360449.3_Missense_Mutation_p.S507N|CPNE8_ENST00000538596.2_Missense_Mutation_p.S188N|CPNE8_ENST00000546603.1_5'UTR	NM_153634.2	NP_705898.1	Q86YQ8	CPNE8_HUMAN	copine VIII	519						extracellular vesicular exosome (GO:0070062)				NS(1)|breast(1)|endometrium(1)|large_intestine(6)|lung(6)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)	21	Esophageal squamous(101;0.187)	Lung NSC(34;0.137)|Melanoma(24;0.152)|all_lung(34;0.157)				TCTAGCCATGCTCAGTATGTG	0.453																																						ENST00000331366.5																			0				NS(1)|breast(1)|endometrium(1)|large_intestine(6)|lung(6)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)	21						c.(1555-1557)aGc>aAc		copine VIII							89	81	84					12																	39047823		2203	4300	6503	SO:0001583	missense	144402							g.chr12:39047823C>T	AY177785	CCDS8733.1	12q12	2008-02-05				ENSG00000139117			23498	protein-coding gene	gene with protein product						12670487	Standard	NM_153634		Approved		uc001rls.1	Q86YQ8	OTTHUMG00000169396	ENST00000331366.5:c.1556G>A	12.37:g.39047823C>T	ENSP00000329748:p.Ser519Asn					CPNE8_ENST00000546603.1_5'UTR|CPNE8_ENST00000538596.2_Missense_Mutation_p.S188N|CPNE8_ENST00000360449.3_Missense_Mutation_p.S507N	p.S519N	NM_153634.2	NP_705898.1	Q86YQ8	CPNE8_HUMAN			20	1652	-	Esophageal squamous(101;0.187)	Lung NSC(34;0.137)|Melanoma(24;0.152)|all_lung(34;0.157)	519					Q2TB41|Q86VY2	Missense_Mutation	SNP	ENST00000331366.5	37	c.1556G>A	CCDS8733.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.154103	0.78114	.	.	ENSG00000139117	ENST00000331366;ENST00000538596;ENST00000360449	T;T;T	0.25912	1.77;1.9;1.77	4.82	4.82	0.62117	.	0.000000	0.85682	D	0.000000	T	0.47078	0.1426	L	0.60455	1.87	0.80722	D	1	D	0.76494	0.999	D	0.72625	0.978	T	0.33292	-0.9874	10	0.38643	T	0.18	-16.7917	17.0471	0.86507	0.0:1.0:0.0:0.0	.	519	Q86YQ8	CPNE8_HUMAN	N	519;188;507	ENSP00000329748:S519N;ENSP00000439237:S188N;ENSP00000353633:S507N	ENSP00000329748:S519N	S	-	2	0	CPNE8	37334090	1.000000	0.71417	1.000000	0.80357	0.896000	0.52359	7.165000	0.77544	2.372000	0.80975	0.655000	0.94253	AGC		0.453	CPNE8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403856.1	NM_153634		14	29	0	0	0	1	0	14	29					T	39047823	C	T	39047823	3	4	435	1	0	0	0	0	1	0	0	0	3818	797	28	3	142	3	CPNE8	12	39047823	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	333053	39047823	94804072	5633	26558											
CPNE8	144402	broad.mit.edu	37	chr12	39155959	39155959	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctctgactgagatcttgaatGcttgccatactggatttaga	10	14	9	8	0	2	4	0	3	2	2	2	6	2	5	1	1	3	1	1	1	3	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:39155959G>A	ENST00000331366.5	-	9	731	c.635C>T	c.(634-636)gCa>gTa	p.A212V	CPNE8_ENST00000360449.3_Missense_Mutation_p.A200V	NM_153634.2	NP_705898.1	Q86YQ8	CPNE8_HUMAN	copine VIII	212	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.					extracellular vesicular exosome (GO:0070062)				NS(1)|breast(1)|endometrium(1)|large_intestine(6)|lung(6)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)	21	Esophageal squamous(101;0.187)	Lung NSC(34;0.137)|Melanoma(24;0.152)|all_lung(34;0.157)				GATCTTGAATGCTTGCCATAC	0.308																																						ENST00000331366.5																			0				NS(1)|breast(1)|endometrium(1)|large_intestine(6)|lung(6)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)	21						c.(634-636)gCa>gTa		copine VIII							116	109	111					12																	39155959		2203	4299	6502	SO:0001583	missense	144402							g.chr12:39155959G>A	AY177785	CCDS8733.1	12q12	2008-02-05				ENSG00000139117			23498	protein-coding gene	gene with protein product						12670487	Standard	NM_153634		Approved		uc001rls.1	Q86YQ8	OTTHUMG00000169396	ENST00000331366.5:c.635C>T	12.37:g.39155959G>A	ENSP00000329748:p.Ala212Val					CPNE8_ENST00000360449.3_Missense_Mutation_p.A200V	p.A212V	NM_153634.2	NP_705898.1	Q86YQ8	CPNE8_HUMAN			9	731	-	Esophageal squamous(101;0.187)	Lung NSC(34;0.137)|Melanoma(24;0.152)|all_lung(34;0.157)	212			C2 2.		Q2TB41|Q86VY2	Missense_Mutation	SNP	ENST00000331366.5	37	c.635C>T	CCDS8733.1	.	.	.	.	.	.	.	.	.	.	G	18.55	3.648137	0.67358	.	.	ENSG00000139117	ENST00000331366;ENST00000360449	T;T	0.38560	1.13;1.13	4.05	4.05	0.47172	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.059335	0.64402	D	0.000002	T	0.32224	0.0822	N	0.16130	0.375	0.80722	D	1	B	0.25719	0.132	B	0.33121	0.158	T	0.34527	-0.9825	10	0.72032	D	0.01	-16.7673	15.8798	0.79195	0.0:0.0:1.0:0.0	.	212	Q86YQ8	CPNE8_HUMAN	V	212;200	ENSP00000329748:A212V;ENSP00000353633:A200V	ENSP00000329748:A212V	A	-	2	0	CPNE8	37442226	1.000000	0.71417	0.998000	0.56505	0.987000	0.75469	9.419000	0.97397	2.209000	0.71365	0.650000	0.86243	GCA		0.308	CPNE8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403856.1	NM_153634		12	13	0	0	0	1	0	12	13					A	39155959	G	A	39155959	3	1	435	1	0	0	0	0	1	0	0	0	3818	1319	46	3	1107	3	CPNE8	12	39155959	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	108136	39155959	94695936	5634	26559											
KIF21A	55605	broad.mit.edu	37	chr12	39711940	39711940	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttaaaaacattcagttcattAcggggccggcttggtgggga	10	11	13	7	2	2	0	2	0	0	0	2	1	2	1	1	6	2	2	1	6	4	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:39711940A>G	ENST00000361418.5	-	29	3858	c.3843T>C	c.(3841-3843)cgT>cgC	p.R1281R	KIF21A_ENST00000361961.3_Silent_p.R1268R|KIF21A_ENST00000544797.2_Silent_p.R1261R|KIF21A_ENST00000541463.2_Silent_p.R1245R|KIF21A_ENST00000547745.1_Intron|KIF21A_ENST00000395670.3_Silent_p.R1281R			Q7Z4S6	KI21A_HUMAN	kinesin family member 21A	1281					ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	86		Lung NSC(34;0.179)|all_lung(34;0.213)				TCAGTTCATTACGGGGCCGGC	0.403																																						ENST00000395670.3																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	86						c.(3841-3843)cgT>cgC		kinesin family member 21A							75	81	79					12																	39711940		2203	4300	6503	SO:0001819	synonymous_variant	55605				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr12:39711940A>G	AK000059	CCDS31773.1, CCDS53774.1, CCDS53775.1, CCDS53776.1	12q12	2013-01-10						"Kinesins", "WD repeat domain containing"	19349	protein-coding gene	gene with protein product		608283	"fibrosis of the extraocular muscles, congenital, 1"	FEOM1		10225949	Standard	NM_017641		Approved	FLJ20052	uc001rly.3	Q7Z4S6	OTTHUMG00000169335	ENST00000361418.5:c.3843T>C	12.37:g.39711940A>G						KIF21A_ENST00000547745.1_Intron|KIF21A_ENST00000544797.2_Silent_p.R1261R|KIF21A_ENST00000541463.2_Silent_p.R1245R|KIF21A_ENST00000361418.5_Silent_p.R1281R|KIF21A_ENST00000361961.3_Silent_p.R1268R	p.R1281R			Q7Z4S6	KI21A_HUMAN			28	4262	-		Lung NSC(34;0.179)|all_lung(34;0.213)	1281					A8MX28|B0I1R9|B9EGE4|F5H0C3|F5H219|Q2UVF1|Q6UKL9|Q7Z668|Q86WZ5|Q8IVZ8|Q9C0F5|Q9NXU4|Q9Y590	Silent	SNP	ENST00000361418.5	37	c.3843T>C	CCDS53776.1																																																																																				0.403	KIF21A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403581.1	NM_017641		25	34	0	0	0	1	0	25	34					G	39711940	A	G	39711940	2	3	435	1	0	0	0	0	0	0	0	1	8288	378	14	4		4	KIF21A	12	39711940	Silent	SNP	A	TCGA-XK-AAIW-01A-11D-A41K-08	555981	39711940	94139955	5635	26560											
KIF21A	55605	broad.mit.edu	37	chr12	39760173	39760173	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtccacagttgatagaaatGccttcttttgccctctcgcc	8	13	7	13	1	2	2	0	1	2	1	4	2	3	2	4	0	2	1	4	0	2	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:39760173G>A	ENST00000361418.5	-	6	897	c.882C>T	c.(880-882)ggC>ggT	p.G294G	KIF21A_ENST00000361961.3_Silent_p.G294G|KIF21A_ENST00000544797.2_Silent_p.G294G|KIF21A_ENST00000541463.2_Silent_p.G294G|KIF21A_ENST00000395670.3_Silent_p.G294G			Q7Z4S6	KI21A_HUMAN	kinesin family member 21A	294	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	86		Lung NSC(34;0.179)|all_lung(34;0.213)				TGATAGAAATGCCTTCTTTTG	0.383																																						ENST00000395670.3																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	86						c.(880-882)ggC>ggT		kinesin family member 21A							120	120	120					12																	39760173		2203	4300	6503	SO:0001819	synonymous_variant	55605				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr12:39760173G>A	AK000059	CCDS31773.1, CCDS53774.1, CCDS53775.1, CCDS53776.1	12q12	2013-01-10						"Kinesins", "WD repeat domain containing"	19349	protein-coding gene	gene with protein product		608283	"fibrosis of the extraocular muscles, congenital, 1"	FEOM1		10225949	Standard	NM_017641		Approved	FLJ20052	uc001rly.3	Q7Z4S6	OTTHUMG00000169335	ENST00000361418.5:c.882C>T	12.37:g.39760173G>A						KIF21A_ENST00000544797.2_Silent_p.G294G|KIF21A_ENST00000541463.2_Silent_p.G294G|KIF21A_ENST00000361418.5_Silent_p.G294G|KIF21A_ENST00000361961.3_Silent_p.G294G	p.G294G			Q7Z4S6	KI21A_HUMAN			6	1301	-		Lung NSC(34;0.179)|all_lung(34;0.213)	294			Kinesin-motor.		A8MX28|B0I1R9|B9EGE4|F5H0C3|F5H219|Q2UVF1|Q6UKL9|Q7Z668|Q86WZ5|Q8IVZ8|Q9C0F5|Q9NXU4|Q9Y590	Silent	SNP	ENST00000361418.5	37	c.882C>T	CCDS53776.1																																																																																				0.383	KIF21A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403581.1	NM_017641		11	30	0	0	0	1	0	11	30					A	39760173	G	A	39760173	2	1	435	1	0	0	0	0	0	0	0	1	8288	1306	46	3		3	KIF21A	12	39760173	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	48233	39760173	94091722	5636	26561											
C12orf40	283461	broad.mit.edu	37	chr12	40085893	40085893	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tatattctttaaaaagcaagCgaatatctactaagaaaatc	19	12	4	6	1	2	1	0	0	2	1	3	2	2	1	0	0	3	1	0	0	12	8			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:40085893C>T	ENST00000324616.5	+	11	1544	c.1390C>T	c.(1390-1392)Cga>Tga	p.R464*	C12orf40_ENST00000405531.3_Nonsense_Mutation_p.R464*	NM_001031748.2	NP_001026918.2	Q86WS4	CL040_HUMAN	chromosome 12 open reading frame 40	464										breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(6)|prostate(1)|skin(2)	38						AAAAAGCAAGCGAATATCTAC	0.244																																						ENST00000324616.5																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(6)|prostate(1)|skin(2)	38						c.(1390-1392)Cga>Tga		chromosome 12 open reading frame 40							30	29	29					12																	40085893		1772	3972	5744	SO:0001587	stop_gained	283461							g.chr12:40085893C>T	AK097445	CCDS41770.1	12q12	2008-08-04			ENSG00000180116	ENSG00000180116			26846	protein-coding gene	gene with protein product						12477932	Standard	XM_005268806		Approved	FLJ40126	uc001rmc.3	Q86WS4	OTTHUMG00000133567	ENST00000324616.5:c.1390C>T	12.37:g.40085893C>T	ENSP00000317671:p.Arg464*					C12orf40_ENST00000405531.3_Nonsense_Mutation_p.R464*	p.R464*	NM_001031748.2	NP_001026918.2	Q86WS4	CL040_HUMAN			11	1544	+			464					B7WNU1|Q8IXY6|Q8N818|V9HW02	Nonsense_Mutation	SNP	ENST00000324616.5	37	c.1390C>T	CCDS41770.1	.	.	.	.	.	.	.	.	.	.	C	11.54	1.668526	0.29604	.	.	ENSG00000180116	ENST00000405531;ENST00000324616	.	.	.	3.09	1.2	0.21068	.	0.838313	0.10084	N	0.717994	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.13108	T	0.6	.	5.3993	0.16286	0.2509:0.5356:0.2135:0.0	.	.	.	.	X	464	.	ENSP00000317671:R464X	R	+	1	2	C12orf40	38372160	0.000000	0.05858	0.000000	0.03702	0.127000	0.20565	-0.078000	0.11375	0.320000	0.23234	0.462000	0.41574	CGA		0.244	C12orf40-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257664.2	NM_173599		8	28	0	0	0	1	0	8	28					T	40085893	C	T	40085893	4	4	435	1	0	0	0	0	0	1	0	0	1686	760	27	1	1432	1	C12orf40	12	40085893	Nonsense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	325720	40085893	93766002	5637	26562											
LRRK2	120892	broad.mit.edu	37	chr12	40653310	40653310	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctggatataatggcagcaGtggtccccaaaatactaaca	14	8	8	11	0	0	0	0	0	0	0	1	1	1	1	3	3	3	2	3	3	6	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:40653310G>T	ENST00000298910.7	+	13	1505	c.1447G>T	c.(1447-1449)Gtg>Ttg	p.V483L	LRRK2_ENST00000343742.2_Missense_Mutation_p.V483L	NM_198578.3	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	483					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|autophagy (GO:0006914)|cellular protein localization (GO:0034613)|cellular response to dopamine (GO:1903351)|cellular response to manganese ion (GO:0071287)|cellular response to oxidative stress (GO:0034599)|determination of adult lifespan (GO:0008340)|endocytosis (GO:0006897)|exploration behavior (GO:0035640)|GTP catabolic process (GO:0006184)|intracellular distribution of mitochondria (GO:0048312)|intracellular signal transduction (GO:0035556)|locomotory exploration behavior (GO:0035641)|MAPK cascade (GO:0000165)|negative regulation of GTPase activity (GO:0034260)|negative regulation of hydrogen peroxide-induced cell death (GO:1903206)|negative regulation of late endosome to lysosome transport (GO:1902823)|negative regulation of peroxidase activity (GO:2000469)|negative regulation of protein binding (GO:0032091)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein processing (GO:0010955)|negative regulation of protein processing involved in protein targeting to mitochondrion (GO:1903217)|negative regulation of protein targeting to mitochondrion (GO:1903215)|negative regulation of thioredoxin peroxidase activity by peptidyl-threonine phosphorylation (GO:1903125)|neuromuscular junction development (GO:0007528)|neuron death (GO:0070997)|neuron projection morphogenesis (GO:0048812)|olfactory bulb development (GO:0021772)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of autophagy (GO:0010508)|positive regulation of dopamine receptor signaling pathway (GO:0060161)|positive regulation of GTPase activity (GO:0043547)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of programmed cell death (GO:0043068)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein autoubiquitination (GO:1902499)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination (GO:0031398)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reactive oxygen species metabolic process (GO:0072593)|regulation of branching morphogenesis of a nerve (GO:2000172)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of dopamine receptor signaling pathway (GO:0060159)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of kidney size (GO:0035564)|regulation of locomotion (GO:0040012)|regulation of membrane potential (GO:0042391)|regulation of mitochondrial depolarization (GO:0051900)|regulation of neuroblast proliferation (GO:1902692)|regulation of neuron death (GO:1901214)|regulation of neuron maturation (GO:0014041)|regulation of protein kinase A signaling (GO:0010738)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of synaptic vesicle exocytosis (GO:2000300)|regulation of synaptic vesicle transport (GO:1902803)|response to oxidative stress (GO:0006979)|small GTPase mediated signal transduction (GO:0007264)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytoplasmic side of mitochondrial outer membrane (GO:0032473)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite (GO:0030425)|dendrite cytoplasm (GO:0032839)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|inclusion body (GO:0016234)|lysosome (GO:0005764)|membrane raft (GO:0045121)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)|terminal bouton (GO:0043195)|trans-Golgi network (GO:0005802)	actin binding (GO:0003779)|ATP binding (GO:0005524)|clathrin binding (GO:0030276)|glycoprotein binding (GO:0001948)|GTP binding (GO:0005525)|GTP-dependent protein kinase activity (GO:0034211)|GTPase activator activity (GO:0005096)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|kinase activity (GO:0016301)|MAP kinase kinase activity (GO:0004708)|peroxidase inhibitor activity (GO:0036479)|protein homodimerization activity (GO:0042803)|protein kinase A binding (GO:0051018)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|Rho GTPase binding (GO:0017048)|SNARE binding (GO:0000149)|syntaxin-1 binding (GO:0017075)|tubulin binding (GO:0015631)			NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				AATGGCAGCAGTGGTCCCCAA	0.393																																						ENST00000298910.7																			0				NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181						c.(1447-1449)Gtg>Ttg		leucine-rich repeat kinase 2							101	99	100					12																	40653310		2203	4300	6503	SO:0001583	missense	120892				activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding	g.chr12:40653310G>T	AK026776	CCDS31774.1	12q12	2011-07-21			ENSG00000188906	ENSG00000188906		"Parkinson disease"	18618	protein-coding gene	gene with protein product		609007	"Parkinson disease (autosomal dominant) 8"	PARK8		15541308	Standard	NM_198578		Approved	ROCO2, DKFZp434H2111, FLJ45829, RIPK7	uc001rmg.4	Q5S007	OTTHUMG00000059742	ENST00000298910.7:c.1447G>T	12.37:g.40653310G>T	ENSP00000298910:p.Val483Leu					LRRK2_ENST00000343742.2_Missense_Mutation_p.V483L	p.V483L	NM_198578.3	NP_940980.3	Q5S007	LRRK2_HUMAN			13	1505	+	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)	483					A6NJU2|Q6ZS50|Q8NCX9	Missense_Mutation	SNP	ENST00000298910.7	37	c.1447G>T	CCDS31774.1	.	.	.	.	.	.	.	.	.	.	G	12.07	1.828606	0.32329	.	.	ENSG00000188906	ENST00000416796;ENST00000343742;ENST00000298910	T;T;T	0.62105	0.05;1.46;1.46	5.69	4.78	0.61160	Armadillo-like helical (1);Armadillo-type fold (1);	0.431113	0.25369	N	0.031163	T	0.51143	0.1657	L	0.43152	1.355	0.23406	N	0.997749	B;B	0.12013	0.005;0.001	B;B	0.08055	0.003;0.002	T	0.49194	-0.8965	10	0.62326	D	0.03	.	7.3162	0.26501	0.0843:0.0:0.746:0.1697	.	483;483	E9PC85;Q5S007	.;LRRK2_HUMAN	L	231;483;483	ENSP00000398726:V231L;ENSP00000341930:V483L;ENSP00000298910:V483L	ENSP00000298910:V483L	V	+	1	0	LRRK2	38939577	1.000000	0.71417	0.993000	0.49108	0.306000	0.27790	2.772000	0.47678	1.366000	0.46076	0.650000	0.86243	GTG		0.393	LRRK2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277179.1	XM_058513		6	101	1	0	0.00198382	1	0.0020125	6	101					T	40653310	G	T	40653310	3	4	435	1	0	0	0	0	1	0	0	0	9033	1029	36	5	1497	5	LRRK2	12	40653310	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	567417	40653310	93198585	5638	26563											
CNTN1	1272	broad.mit.edu	37	chr12	41410696	41410696	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaccttacagcctagtagcAgtcattaattcagcacaaga	14	9	8	10	0	2	1	2	0	0	1	2	2	2	2	2	1	4	3	2	1	5	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:41410696A>G	ENST00000551295.2	+	19	2514	c.2397A>G	c.(2395-2397)gcA>gcG	p.A799A	CNTN1_ENST00000347616.1_Silent_p.A799A|CNTN1_ENST00000348761.2_Silent_p.A788A|CNTN1_ENST00000550305.1_3'UTR	NM_001843.3	NP_001834.2	Q12860	CNTN1_HUMAN	contactin 1	799	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cerebellum development (GO:0021549)|Notch signaling pathway (GO:0007219)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transport (GO:0010765)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	90	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)				GCCTAGTAGCAGTCATTAATT	0.418																																						ENST00000551295.2																			0				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	90						c.(2395-2397)gcA>gcG		contactin 1							88	76	80					12																	41410696		2203	4300	6503	SO:0001819	synonymous_variant	1272				axon guidance|cell adhesion|Notch signaling pathway	anchored to membrane|membrane fraction|plasma membrane		g.chr12:41410696A>G	Z21488	CCDS8737.1, CCDS8738.1, CCDS58225.1	12q11-q12	2014-01-30				ENSG00000018236		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing", "Endogenous ligands"	2171	protein-coding gene	gene with protein product	"glycoprotein gP135"	600016				7959734, 8586965	Standard	NM_001843		Approved	F3, GP135	uc031qgz.1	Q12860		ENST00000551295.2:c.2397A>G	12.37:g.41410696A>G						CNTN1_ENST00000347616.1_Silent_p.A799A|CNTN1_ENST00000348761.2_Silent_p.A788A|CNTN1_ENST00000550305.1_3'UTR	p.A799A	NM_001843.3	NP_001834.2	Q12860	CNTN1_HUMAN			19	2514	+	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)	799			Fibronectin type-III 2.		A8K0H9|A8K0Y3|Q12861|Q14030|Q7M4P0|Q8N466	Silent	SNP	ENST00000551295.2	37	c.2397A>G	CCDS8737.1																																																																																				0.418	CNTN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403692.2	NM_001843		11	33	0	0	0	1	0	11	33					G	41410696	A	G	41410696	2	3	435	1	0	0	0	0	0	0	0	1	3640	175	7	4		4	CNTN1	12	41410696	Silent	SNP	A	TCGA-XK-AAIW-01A-11D-A41K-08	757386	41410696	92441199	5639	26564											
PDZRN4	29951	broad.mit.edu	37	chr12	41585332	41585332	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgggattcaatattataggaGgtcgaccaaatcaggtaaaa	16	10	10	5	1	2	0	2	0	0	0	3	3	2	2	1	4	0	1	1	4	7	5	rs183846339	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:41585332G>T	ENST00000402685.2	+	2	729	c.721G>T	c.(721-723)Ggt>Tgt	p.G241C		NM_001164595.1	NP_001158067.1	Q6ZMN7	PZRN4_HUMAN	PDZ domain containing ring finger 4	241	PDZ 1. {ECO:0000255|PROSITE- ProRule:PRU00143}.						ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	77	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)				TATTATAGGAGGTCGACCAAA	0.303																																						ENST00000402685.2																			0				breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	77						c.(721-723)Ggt>Tgt		PDZ domain containing ring finger 4							98	91	93					12																	41585332		1568	3576	5144	SO:0001583	missense	29951						ubiquitin-protein ligase activity|zinc ion binding	g.chr12:41585332G>T	AK094690	CCDS8739.1, CCDS53777.1	12q12	2008-08-14	2008-08-14			ENSG00000165966		"RING-type (C3HC4) zinc fingers"	30552	protein-coding gene	gene with protein product	"similar to semaF cytoplasmic domain associated protein 3"	609730				11230166, 15010864	Standard	NM_013377		Approved	DKFZp434B0417, LNX4, FLJ33777, IMAGE5767589	uc010skn.2	Q6ZMN7		ENST00000402685.2:c.721G>T	12.37:g.41585332G>T	ENSP00000384197:p.Gly241Cys						p.G241C	NM_001164595.1	NP_001158067.1	Q6ZMN7	PZRN4_HUMAN			2	729	+	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)	241			PDZ 1.		Q52LY3|Q52LY4|Q6N052|Q8IUU1|Q9NTP7	Missense_Mutation	SNP	ENST00000402685.2	37	c.721G>T	CCDS53777.1	.	.	.	.	.	.	.	.	.	.	G	19.69	3.873935	0.72180	.	.	ENSG00000165966	ENST00000402685	T	0.60424	0.19	4.48	4.48	0.54585	PDZ/DHR/GLGF (4);	.	.	.	.	D	0.83783	0.5329	H	0.96996	3.92	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.89602	0.3835	9	0.87932	D	0	.	16.2123	0.82170	0.0:0.0:1.0:0.0	.	241	Q6ZMN7	PZRN4_HUMAN	C	241	ENSP00000384197:G241C	ENSP00000384197:G241C	G	+	1	0	PDZRN4	39871599	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.921000	0.87530	2.422000	0.82143	0.563000	0.77884	GGT		0.303	PDZRN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403701.1	NM_013377		15	27	1	0	0.000422831	1	0.000430994	15	27					T	41585332	G	T	41585332	3	4	435	1	0	0	0	0	1	0	0	0	11710	1000	35	5	727	5	PDZRN4	12	41585332	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	174636	41585332	92266563	5640	26565											
PRICKLE1	144165	broad.mit.edu	37	chr12	42854165	42854165	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttcactcatcggaggctgccGgatttcaatgtcatagttcc	8	13	9	11	2	4	0	4	0	0	0	6	2	5	2	2	3	1	2	2	3	2	4	rs370129051		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:42854165G>A	ENST00000455697.1	-	8	2227	c.1942C>T	c.(1942-1944)Cgg>Tgg	p.R648W	PRICKLE1_ENST00000552240.1_Missense_Mutation_p.R648W|PRICKLE1_ENST00000445766.2_Missense_Mutation_p.R648W|PRICKLE1_ENST00000548696.1_Missense_Mutation_p.R648W|PRICKLE1_ENST00000345127.3_Missense_Mutation_p.R648W|RP11-328C8.4_ENST00000547824.1_RNA	NM_001144882.1|NM_001144883.1	NP_001138354.1|NP_001138355.1	Q96MT3	PRIC1_HUMAN	prickle homolog 1 (Drosophila)	648					negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cardiac muscle cell myoblast differentiation (GO:2000691)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein ubiquitination (GO:0031398)|protein import into nucleus (GO:0006606)	cytosol (GO:0005829)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(13)|ovary(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	47	all_cancers(12;4.25e-05)|Breast(8;0.176)			GBM - Glioblastoma multiforme(48;0.2)		GGAGGCTGCCGGATTTCAATG	0.507																																						ENST00000455697.1																			0				NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(13)|ovary(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	47						c.(1942-1944)Cgg>Tgg		prickle homolog 1 (Drosophila)							68	66	67					12																	42854165		2203	4300	6503	SO:0001583	missense	0				negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cardiac muscle cell myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein import into nucleus	cytosol|nuclear membrane	zinc ion binding	g.chr12:42854165G>A	AK056499	CCDS8742.1	12p11-q12	2010-08-13	2006-09-12			ENSG00000139174			17019	protein-coding gene	gene with protein product		608500	"prickle-like 1 (Drosophila)"			12525887, 18976727	Standard	NM_153026		Approved	FLJ31937, EPM1B	uc010skv.2	Q96MT3		ENST00000455697.1:c.1942C>T	12.37:g.42854165G>A	ENSP00000401060:p.Arg648Trp					RP11-328C8.4_ENST00000547824.1_RNA|PRICKLE1_ENST00000552240.1_Missense_Mutation_p.R648W|PRICKLE1_ENST00000345127.3_Missense_Mutation_p.R648W|PRICKLE1_ENST00000445766.2_Missense_Mutation_p.R648W|PRICKLE1_ENST00000548696.1_Missense_Mutation_p.R648W	p.R648W	NM_001144882.1|NM_001144883.1	NP_001138354.1|NP_001138355.1	Q96MT3	PRIC1_HUMAN		GBM - Glioblastoma multiforme(48;0.2)	8	2227	-	all_cancers(12;4.25e-05)|Breast(8;0.176)		648					Q14C83|Q71QF8|Q96N00	Missense_Mutation	SNP	ENST00000455697.1	37	c.1942C>T	CCDS8742.1	.	.	.	.	.	.	.	.	.	.	G	17.79	3.477125	0.63849	.	.	ENSG00000139174	ENST00000455697;ENST00000445766;ENST00000548696;ENST00000345127;ENST00000552240	D;D;D;D;D	0.90261	-2.64;-2.64;-2.64;-2.64;-2.64	5.53	4.59	0.56863	.	0.103423	0.64402	D	0.000002	D	0.94542	0.8242	M	0.70275	2.135	0.53688	D	0.999977	D	0.89917	1.0	D	0.74674	0.984	D	0.94812	0.7979	10	0.87932	D	0	-11.1815	16.3162	0.82928	0.0:0.0:0.8677:0.1323	.	648	Q96MT3	PRIC1_HUMAN	W	648	ENSP00000401060:R648W;ENSP00000398947:R648W;ENSP00000448359:R648W;ENSP00000345064:R648W;ENSP00000449819:R648W	ENSP00000345064:R648W	R	-	1	2	PRICKLE1	41140432	0.916000	0.31088	0.979000	0.43373	0.995000	0.86356	2.039000	0.41193	2.759000	0.94783	0.650000	0.86243	CGG		0.507	PRICKLE1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404069.1			25	48	0	0	0	1	0	25	48					A	42854165	G	A	42854165	3	1	435	1	0	0	0	0	1	0	0	0	12486	1115	39	2	557	2	PRICKLE1	12	42854165	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	1268833	42854165	90997730	5641	26566											
ADAMTS20	80070	broad.mit.edu	37	chr12	43822102	43822102	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctgatggatggaccacctgaTtttcattatcttcaagtttt	9	17	7	8	0	3	2	2	2	1	0	3	4	3	4	2	2	0	1	2	2	2	6			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:43822102T>A	ENST00000389420.3	-	26	3886	c.3887A>T	c.(3886-3888)aAt>aTt	p.N1296I	ADAMTS20_ENST00000395541.2_Missense_Mutation_p.N414I|ADAMTS20_ENST00000553158.1_Missense_Mutation_p.N1296I	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	1296					extracellular matrix organization (GO:0030198)|negative regulation of apoptotic process (GO:0043066)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of signal transduction (GO:0009967)	extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.N1296S(1)		breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		GACCACCTGATTTTCATTATC	0.423																																						ENST00000389420.3																			1	Substitution - Missense(1)	p.N1296S(1)	lung(1)	breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						c.(3886-3888)aAt>aTt		ADAM metallopeptidase with thrombospondin type 1 motif, 20							106	103	104					12																	43822102		2203	4300	6503	SO:0001583	missense	80070					proteinaceous extracellular matrix	zinc ion binding	g.chr12:43822102T>A	AF488804	CCDS31778.2	12q12	2005-08-19	2005-08-19			ENSG00000173157		"ADAM metallopeptidases with thrombospondin type 1 motif"	17178	protein-coding gene	gene with protein product		611681	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 20"			12514189, 12562771	Standard	NM_025003		Approved	GON-1	uc010skx.2	P59510		ENST00000389420.3:c.3887A>T	12.37:g.43822102T>A	ENSP00000374071:p.Asn1296Ile					ADAMTS20_ENST00000395541.2_Missense_Mutation_p.N414I|ADAMTS20_ENST00000553158.1_Missense_Mutation_p.N1296I	p.N1296I	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN		GBM - Glioblastoma multiforme(48;0.0473)	26	3886	-	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)	1296					A6NNC9|J3QT00	Missense_Mutation	SNP	ENST00000389420.3	37	c.3887A>T	CCDS31778.2	.	.	.	.	.	.	.	.	.	.	T	15.36	2.809948	0.50421	.	.	ENSG00000173157	ENST00000389420;ENST00000549670;ENST00000395541;ENST00000553158;ENST00000389417	T;T;T;T	0.61859	0.22;0.08;0.08;0.07	5.11	5.11	0.69529	.	0.264075	0.26099	N	0.026356	T	0.50257	0.1605	N	0.19112	0.55	0.37885	D	0.930505	B;D	0.56035	0.01;0.974	B;P	0.47470	0.01;0.548	T	0.61337	-0.7083	10	0.66056	D	0.02	.	15.2822	0.73794	0.0:0.0:0.0:1.0	.	1296;414	P59510;E9PBD5	ATS20_HUMAN;.	I	1296;426;414;1296;1296	ENSP00000374071:N1296I;ENSP00000447427:N426I;ENSP00000378911:N414I;ENSP00000448341:N1296I	ENSP00000374068:N1296I	N	-	2	0	ADAMTS20	42108369	0.992000	0.36948	0.909000	0.35828	0.112000	0.19704	3.497000	0.53295	2.240000	0.73641	0.477000	0.44152	AAT		0.423	ADAMTS20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403643.1	NM_025003		41	69	0	0	0	1	0	41	69					A	43822102	T	A	43822102	3	1	435	1	0	0	0	0	1	0	0	0	266	1493	52	5	1900	5	ADAMTS20	12	43822102	Missense_Mutation	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	967937	43822102	90029793	5642	26567											
ADAMTS20	80070	broad.mit.edu	37	chr12	43826457	43826457	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gacacagttaccatggcataGttcttgggtaggaggtttaa	11	12	12	6	0	1	0	0	0	1	0	1	2	1	1	1	4	1	5	1	4	4	7			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:43826457G>A	ENST00000389420.3	-	20	2877	c.2878C>T	c.(2878-2880)Cta>Tta	p.L960L	ADAMTS20_ENST00000395541.2_Silent_p.L114L|ADAMTS20_ENST00000553158.1_Silent_p.L960L	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	960	TSP type-1 3. {ECO:0000255|PROSITE- ProRule:PRU00210}.				extracellular matrix organization (GO:0030198)|negative regulation of apoptotic process (GO:0043066)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of signal transduction (GO:0009967)	extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		CCATGGCATAGTTCTTGGGTA	0.398																																						ENST00000389420.3																			0				breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						c.(2878-2880)Cta>Tta		ADAM metallopeptidase with thrombospondin type 1 motif, 20							150	131	137					12																	43826457		2203	4300	6503	SO:0001819	synonymous_variant	80070					proteinaceous extracellular matrix	zinc ion binding	g.chr12:43826457G>A	AF488804	CCDS31778.2	12q12	2005-08-19	2005-08-19			ENSG00000173157		"ADAM metallopeptidases with thrombospondin type 1 motif"	17178	protein-coding gene	gene with protein product		611681	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 20"			12514189, 12562771	Standard	NM_025003		Approved	GON-1	uc010skx.2	P59510		ENST00000389420.3:c.2878C>T	12.37:g.43826457G>A						ADAMTS20_ENST00000395541.2_Silent_p.L114L|ADAMTS20_ENST00000553158.1_Silent_p.L960L	p.L960L	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN		GBM - Glioblastoma multiforme(48;0.0473)	20	2877	-	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)	960			TSP type-1 3.		A6NNC9|J3QT00	Silent	SNP	ENST00000389420.3	37	c.2878C>T	CCDS31778.2																																																																																				0.398	ADAMTS20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403643.1	NM_025003		20	30	0	0	0	1	0	20	30					A	43826457	G	A	43826457	2	1	435	1	0	0	0	0	0	0	0	1	266	1020	36	3		3	ADAMTS20	12	43826457	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	4355	43826457	90025438	5643	26568											
ADAMTS20	80070	broad.mit.edu	37	chr12	43944804	43944804	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcgcaggtccgagggccctgCgtcgctctcccaggccccgc	3	5	14	19	5	1	0	0	0	1	0	4	1	2	0	5	3	1	2	5	3	0	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:43944804C>T	ENST00000389420.3	-	2	360	c.361G>A	c.(361-363)Gca>Aca	p.A121T	ADAMTS20_ENST00000553158.1_Missense_Mutation_p.A121T	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	121					extracellular matrix organization (GO:0030198)|negative regulation of apoptotic process (GO:0043066)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of signal transduction (GO:0009967)	extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		GAGGGCCCTGCGTCGCTCTCC	0.657																																						ENST00000389420.3																			0				breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						c.(361-363)Gca>Aca		ADAM metallopeptidase with thrombospondin type 1 motif, 20							23	26	25					12																	43944804		2203	4300	6503	SO:0001583	missense	80070					proteinaceous extracellular matrix	zinc ion binding	g.chr12:43944804C>T	AF488804	CCDS31778.2	12q12	2005-08-19	2005-08-19			ENSG00000173157		"ADAM metallopeptidases with thrombospondin type 1 motif"	17178	protein-coding gene	gene with protein product		611681	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 20"			12514189, 12562771	Standard	NM_025003		Approved	GON-1	uc010skx.2	P59510		ENST00000389420.3:c.361G>A	12.37:g.43944804C>T	ENSP00000374071:p.Ala121Thr					ADAMTS20_ENST00000553158.1_Missense_Mutation_p.A121T	p.A121T	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN		GBM - Glioblastoma multiforme(48;0.0473)	2	360	-	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)	121					A6NNC9|J3QT00	Missense_Mutation	SNP	ENST00000389420.3	37	c.361G>A	CCDS31778.2	.	.	.	.	.	.	.	.	.	.	C	1.220	-0.627288	0.03610	.	.	ENSG00000173157	ENST00000389420;ENST00000553158;ENST00000389417	T;T	0.06068	3.35;3.35	3.5	-3.64	0.04515	Peptidase M12B, propeptide (1);	1.274900	0.05834	N	0.618111	T	0.02610	0.0079	N	0.12182	0.205	0.09310	N	1	B	0.22003	0.063	B	0.18561	0.022	T	0.44329	-0.9335	10	0.13108	T	0.6	.	0.4397	0.00484	0.2111:0.1936:0.2624:0.3328	.	121	P59510	ATS20_HUMAN	T	121	ENSP00000374071:A121T;ENSP00000448341:A121T	ENSP00000374068:A121T	A	-	1	0	ADAMTS20	42231071	0.000000	0.05858	0.000000	0.03702	0.017000	0.09413	-0.433000	0.06948	-0.863000	0.04084	0.591000	0.81541	GCA		0.657	ADAMTS20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403643.1	NM_025003		4	5	0	0	0	1	0	4	5					T	43944804	C	T	43944804	3	4	435	1	0	0	0	0	1	0	0	0	266	768	27	1	5522	1	ADAMTS20	12	43944804	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	118347	43944804	89907091	5644	26569											
PUS7L	83448	broad.mit.edu	37	chr12	44124291	44124291	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	catcaatgtgggaacctttcGttttgacatcaatgtcatga	11	14	8	8	1	3	2	3	2	0	0	4	3	3	3	1	1	1	1	1	1	3	3	rs139103690	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:44124291G>A	ENST00000416848.2	-	9	2482	c.1994C>T	c.(1993-1995)aCg>aTg	p.T665M	PUS7L_ENST00000344862.5_Missense_Mutation_p.T665M|PUS7L_ENST00000551923.1_Missense_Mutation_p.T665M|PUS7L_ENST00000431332.3_Missense_Mutation_p.T352M	NM_001098615.1|NM_001271826.1	NP_001092085.1|NP_001258755.1	Q9H0K6	PUS7L_HUMAN	pseudouridylate synthase 7 homolog (S. cerevisiae)-like	665					pseudouridine synthesis (GO:0001522)|tRNA processing (GO:0008033)		pseudouridine synthase activity (GO:0009982)|RNA binding (GO:0003723)			NS(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(15)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	all_cancers(12;0.00027)	Lung NSC(34;0.114)|all_lung(34;0.24)		GBM - Glioblastoma multiforme(48;0.0402)		GGAACCTTTCGTTTTGACATC	0.368													G|||	2	0.000399361	8e-04	0	5008	,	,		20598	0.001		0	False		,,,				2504	0					ENST00000416848.2																			0				NS(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(15)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(1993-1995)aCg>aTg		pseudouridylate synthase 7 homolog (S. cerevisiae)-like		G	MET/THR,MET/THR,MET/THR	0,4406		0,0,2203	153	139	144		1994,1994,1994	-10.3	0	12	dbSNP_134	144	2,8598	2.2+/-6.3	0,2,4298	no	missense,missense,missense	PUS7L	NM_001098614.1,NM_001098615.1,NM_031292.3	81,81,81	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	benign,benign,benign	665/702,665/702,665/702	44124291	2,13004	2203	4300	6503	SO:0001583	missense	83448				pseudouridine synthesis|tRNA processing		pseudouridine synthase activity|RNA binding	g.chr12:44124291G>A	BX647494	CCDS8743.1, CCDS61104.1	12q12	2006-02-07				ENSG00000129317			25276	protein-coding gene	gene with protein product						11230166	Standard	NM_001098615		Approved	DKFZP434G1415	uc001rnr.5	Q9H0K6	OTTHUMG00000169423	ENST00000416848.2:c.1994C>T	12.37:g.44124291G>A	ENSP00000415899:p.Thr665Met					PUS7L_ENST00000431332.3_Missense_Mutation_p.T352M|PUS7L_ENST00000344862.5_Missense_Mutation_p.T665M|PUS7L_ENST00000551923.1_Missense_Mutation_p.T665M	p.T665M	NM_001098615.1|NM_001271826.1	NP_001092085.1|NP_001258755.1	Q9H0K6	PUS7L_HUMAN		GBM - Glioblastoma multiforme(48;0.0402)	9	2482	-	all_cancers(12;0.00027)	Lung NSC(34;0.114)|all_lung(34;0.24)	665					B3KUJ1|Q05CU0|Q6AHZ3|Q6NUP2	Missense_Mutation	SNP	ENST00000416848.2	37	c.1994C>T	CCDS8743.1	.	.	.	.	.	.	.	.	.	.	G	1.290	-0.607772	0.03717	0.0	2.33E-4	ENSG00000129317	ENST00000416848;ENST00000344862;ENST00000551923;ENST00000431332	T;T;T;T	0.44881	1.9;1.9;1.9;0.91	5.13	-10.3	0.00346	Pseudouridine synthase, catalytic domain (1);	1.430810	0.03794	N	0.263368	T	0.28300	0.0699	L	0.48362	1.52	0.09310	N	1	B	0.11235	0.004	B	0.09377	0.004	T	0.10567	-1.0624	10	0.39692	T	0.17	5.8806	4.2199	0.10552	0.4875:0.0778:0.2831:0.1517	.	665	Q9H0K6	PUS7L_HUMAN	M	665;665;665;352	ENSP00000415899:T665M;ENSP00000343081:T665M;ENSP00000447706:T665M;ENSP00000398497:T352M	ENSP00000343081:T665M	T	-	2	0	PUS7L	42410558	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-2.814000	0.00753	-2.658000	0.00420	-1.874000	0.00550	ACG		0.368	PUS7L-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403931.1	NM_031292		24	39	0	0	0	1	0	24	39					A	44124291	G	A	44124291	3	1	435	1	0	0	0	0	1	0	0	0	12834	1145	40	1	115	1	PUS7L	12	44124291	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	179487	44124291	89727604	5645	26570											
PUS7L	83448	broad.mit.edu	37	chr12	44148474	44148474	+	Frame_Shift_Del	DEL	T	T	-																															gttttacaacaatttcactgTtttttcctacagttactaaa																										TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:44148474delT	ENST00000416848.2	-	2	1063	c.575delA	c.(574-576)aacfs	p.N192fs	PUS7L_ENST00000344862.5_Frame_Shift_Del_p.N192fs|PUS7L_ENST00000551923.1_Frame_Shift_Del_p.N192fs|PUS7L_ENST00000553166.1_Frame_Shift_Del_p.N192fs|PUS7L_ENST00000431332.3_Intron	NM_001098615.1|NM_001271826.1	NP_001092085.1|NP_001258755.1	Q9H0K6	PUS7L_HUMAN	pseudouridylate synthase 7 homolog (S. cerevisiae)-like	192					pseudouridine synthesis (GO:0001522)|tRNA processing (GO:0008033)		pseudouridine synthase activity (GO:0009982)|RNA binding (GO:0003723)			NS(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(15)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	all_cancers(12;0.00027)	Lung NSC(34;0.114)|all_lung(34;0.24)		GBM - Glioblastoma multiforme(48;0.0402)		AATTTCACTGTTTTTTCCTAC	0.333																																						ENST00000416848.2																			0				NS(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(15)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(574-576)acfs		pseudouridylate synthase 7 homolog (S. cerevisiae)-like							66	66	66					12																	44148474		2203	4299	6502	SO:0001589	frameshift_variant	83448				pseudouridine synthesis|tRNA processing		pseudouridine synthase activity|RNA binding	g.chr12:44148474delT	BX647494	CCDS8743.1, CCDS61104.1	12q12	2006-02-07				ENSG00000129317			25276	protein-coding gene	gene with protein product						11230166	Standard	NM_001098615		Approved	DKFZP434G1415	uc001rnr.5	Q9H0K6	OTTHUMG00000169423	ENST00000416848.2:c.575delA	12.37:g.44148474delT	ENSP00000415899:p.Asn192fs					PUS7L_ENST00000551923.1_Frame_Shift_Del_p.N192fs|PUS7L_ENST00000431332.3_Intron|PUS7L_ENST00000553166.1_Frame_Shift_Del_p.N192fs|PUS7L_ENST00000344862.5_Frame_Shift_Del_p.N192fs	p.N192fs	NM_001098615.1|NM_001271826.1	NP_001092085.1|NP_001258755.1	Q9H0K6	PUS7L_HUMAN		GBM - Glioblastoma multiforme(48;0.0402)	2	1063	-	all_cancers(12;0.00027)	Lung NSC(34;0.114)|all_lung(34;0.24)	192					B3KUJ1|Q05CU0|Q6AHZ3|Q6NUP2	Frame_Shift_Del	DEL	ENST00000416848.2	37	c.575delA	CCDS8743.1																																																																																				0.333	PUS7L-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403931.1	NM_031292		25	62						25	62	---	---	---	---	-	44148474	T	-	44148474	7	5	435	1	0	1	0	1	0	0	0	0	12834	1725	60	0	1562	0	PUS7L	12	44148474	Frame_Shift_Del	DEL	T	TCGA-XK-AAIW-01A-11D-A41K-08	24183	44148474	89703421	5646	26571											
TMEM117	84216	broad.mit.edu	37	chr12	44338119	44338119	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttttctcacatatacaacacGattcttctaatggatgggaa	13	14	6	8	1	3	0	1	0	3	0	4	3	3	2	0	2	2	0	0	2	5	7			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:44338119G>A	ENST00000266534.3	+	3	511	c.384G>A	c.(382-384)acG>acA	p.T128T	TMEM117_ENST00000536799.1_Missense_Mutation_p.D58N|TMEM117_ENST00000551577.1_Silent_p.T128T	NM_032256.1	NP_115632.1	Q9H0C3	TM117_HUMAN	transmembrane protein 117	128						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|urinary_tract(1)	23	Lung SC(27;0.192)			GBM - Glioblastoma multiforme(48;0.124)		TATACAACACGATTCTTCTAA	0.368																																						ENST00000536799.1																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|urinary_tract(1)	23						c.(172-174)Gat>Aat		transmembrane protein 117							215	200	205					12																	44338119		2203	4300	6503	SO:0001819	synonymous_variant	84216					endoplasmic reticulum|integral to membrane		g.chr12:44338119G>A	BC060798	CCDS8745.1, CCDS73462.1	12q12	2006-02-03				ENSG00000139173			25308	protein-coding gene	gene with protein product						11230166	Standard	NM_001286211		Approved	DKFZp434K2435	uc001rod.3	Q9H0C3	OTTHUMG00000169427	ENST00000266534.3:c.384G>A	12.37:g.44338119G>A						TMEM117_ENST00000266534.3_Silent_p.T128T|TMEM117_ENST00000551577.1_Silent_p.T128T	p.D58N			Q9H0C3	TM117_HUMAN		GBM - Glioblastoma multiforme(48;0.124)	2	172	+	Lung SC(27;0.192)		0						Missense_Mutation	SNP	ENST00000266534.3	37	c.172G>A	CCDS8745.1	.	.	.	.	.	.	.	.	.	.	G	17.86	3.492710	0.64074	.	.	ENSG00000139173	ENST00000536799	.	.	.	5.51	0.473	0.16763	.	.	.	.	.	T	0.29850	0.0746	.	.	.	0.20821	N	0.999847	B	0.02656	0.0	B	0.01281	0.0	T	0.27191	-1.0081	7	0.87932	D	0	-4.721	5.62	0.17451	0.204:0.2749:0.5211:0.0	.	58	F5H3Q2	.	N	58	.	ENSP00000445243:D58N	D	+	1	0	TMEM117	42624386	0.402000	0.25311	0.985000	0.45067	0.675000	0.39556	-0.350000	0.07721	-0.122000	0.11766	0.591000	0.81541	GAT		0.368	TMEM117-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403969.1	NM_032256		24	52	0	0	0	1	0	24	52					A	44338119	G	A	44338119	2	1	435	1	0	0	0	0	0	0	0	1	16028	1045	37	2		2	TMEM117	12	44338119	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	189645	44338119	89513776	5647	26572											
NELL2	4753	broad.mit.edu	37	chr12	45000983	45000983	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgggtccagtgaagccttgTgggcaggcacacacattagc	9	8	13	11	0	0	1	0	1	0	0	1	1	1	1	2	3	2	2	2	3	2	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:45000983T>C	ENST00000429094.2	-	15	2136	c.1632A>G	c.(1630-1632)ccA>ccG	p.P544P	NELL2_ENST00000437801.2_Silent_p.P594P|NELL2_ENST00000549027.1_Silent_p.P543P|NELL2_ENST00000551601.1_Silent_p.P543P|NELL2_ENST00000452445.2_Silent_p.P544P|NELL2_ENST00000333837.4_Silent_p.P567P|NELL2_ENST00000395487.2_Silent_p.P543P	NM_001145108.1	NP_001138580.1	Q99435	NELL2_HUMAN	NEL-like 2 (chicken)	544	EGF-like 4. {ECO:0000255|PROSITE- ProRule:PRU00076}.					extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(16)|lung(30)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	65	Lung SC(27;0.192)	Lung NSC(34;0.144)		GBM - Glioblastoma multiforme(48;0.092)		TGAAGCCTTGTGGGCAGGCAC	0.393																																						ENST00000429094.2																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(16)|lung(30)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	65						c.(1630-1632)ccA>ccG		NEL-like 2 (chicken)							82	79	80					12																	45000983		2203	4299	6502	SO:0001819	synonymous_variant	4753				cell adhesion	extracellular region	calcium ion binding|protein binding|structural molecule activity	g.chr12:45000983T>C	D83018	CCDS8746.1, CCDS44863.1, CCDS44864.1, CCDS53781.1	12q12	2012-01-30	2001-11-28		ENSG00000184613	ENSG00000184613			7751	protein-coding gene	gene with protein product		602320	"nel (chicken)-like 2"			19249368	Standard	NM_006159		Approved	NRP2	uc010skz.1	Q99435	OTTHUMG00000169464	ENST00000429094.2:c.1632A>G	12.37:g.45000983T>C						NELL2_ENST00000452445.2_Silent_p.P544P|NELL2_ENST00000437801.2_Silent_p.P594P|NELL2_ENST00000395487.2_Silent_p.P543P|NELL2_ENST00000333837.4_Silent_p.P567P|NELL2_ENST00000549027.1_Silent_p.P543P|NELL2_ENST00000551601.1_Silent_p.P543P	p.P544P	NM_001145108.1	NP_001138580.1	Q99435	NELL2_HUMAN		GBM - Glioblastoma multiforme(48;0.092)	15	2136	-	Lung SC(27;0.192)	Lung NSC(34;0.144)	544			EGF-like 4.		B7Z2U7|B7Z5Q4|B7Z9J5|B7Z9U3|Q96JS2	Silent	SNP	ENST00000429094.2	37	c.1632A>G	CCDS8746.1																																																																																				0.393	NELL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404180.1	NM_006159		16	22	0	0	0	1	0	16	22					C	45000983	T	C	45000983	2	2	435	1	0	0	0	0	0	0	0	1	10334	1683	59	4		4	NELL2	12	45000983	Silent	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	662864	45000983	88850912	5648	26573											
NELL2	4753	broad.mit.edu	37	chr12	45169828	45169828	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcatgtgcagttcttacagcCgtctatccaggactcaaatt	10	12	8	11	1	3	0	1	0	2	0	4	1	4	1	2	1	3	3	2	1	3	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:45169828C>T	ENST00000429094.2	-	8	1372	c.868G>A	c.(868-870)Ggc>Agc	p.G290S	NELL2_ENST00000437801.2_Missense_Mutation_p.G340S|NELL2_ENST00000549027.1_Missense_Mutation_p.G289S|NELL2_ENST00000551601.1_Missense_Mutation_p.G289S|NELL2_ENST00000452445.2_Missense_Mutation_p.G290S|NELL2_ENST00000333837.4_Missense_Mutation_p.G313S|NELL2_ENST00000395487.2_Missense_Mutation_p.G289S	NM_001145108.1	NP_001138580.1	Q99435	NELL2_HUMAN	NEL-like 2 (chicken)	290	VWFC 1. {ECO:0000255|PROSITE- ProRule:PRU00220}.					extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(16)|lung(30)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	65	Lung SC(27;0.192)	Lung NSC(34;0.144)		GBM - Glioblastoma multiforme(48;0.092)		TTCTTACAGCCGTCTATCCAG	0.418																																						ENST00000429094.2																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(16)|lung(30)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	65						c.(868-870)Ggc>Agc		NEL-like 2 (chicken)							138	123	128					12																	45169828		2203	4300	6503	SO:0001583	missense	4753				cell adhesion	extracellular region	calcium ion binding|protein binding|structural molecule activity	g.chr12:45169828C>T	D83018	CCDS8746.1, CCDS44863.1, CCDS44864.1, CCDS53781.1	12q12	2012-01-30	2001-11-28		ENSG00000184613	ENSG00000184613			7751	protein-coding gene	gene with protein product		602320	"nel (chicken)-like 2"			19249368	Standard	NM_006159		Approved	NRP2	uc010skz.1	Q99435	OTTHUMG00000169464	ENST00000429094.2:c.868G>A	12.37:g.45169828C>T	ENSP00000390680:p.Gly290Ser					NELL2_ENST00000452445.2_Missense_Mutation_p.G290S|NELL2_ENST00000437801.2_Missense_Mutation_p.G340S|NELL2_ENST00000395487.2_Missense_Mutation_p.G289S|NELL2_ENST00000333837.4_Missense_Mutation_p.G313S|NELL2_ENST00000549027.1_Missense_Mutation_p.G289S|NELL2_ENST00000551601.1_Missense_Mutation_p.G289S	p.G290S	NM_001145108.1	NP_001138580.1	Q99435	NELL2_HUMAN		GBM - Glioblastoma multiforme(48;0.092)	8	1372	-	Lung SC(27;0.192)	Lung NSC(34;0.144)	290			VWFC 1.		B7Z2U7|B7Z5Q4|B7Z9J5|B7Z9U3|Q96JS2	Missense_Mutation	SNP	ENST00000429094.2	37	c.868G>A	CCDS8746.1	.	.	.	.	.	.	.	.	.	.	C	35	5.487626	0.96323	.	.	ENSG00000184613	ENST00000395487;ENST00000429094;ENST00000551601;ENST00000452445;ENST00000549027;ENST00000333837;ENST00000437801;ENST00000543684;ENST00000550462;ENST00000552993	T;T;T;T;T;T;T;T;T	0.64991	-0.13;-0.13;-0.13;-0.13;-0.13;-0.13;-0.13;-0.13;-0.13	5.31	5.31	0.75309	von Willebrand factor, type C (3);	0.000000	0.85682	D	0.000000	T	0.73024	0.3534	L	0.37850	1.14	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	1.0;0.99;0.985;0.999;0.991;0.99	T	0.73610	-0.3928	10	0.52906	T	0.07	-24.2337	19.3459	0.94362	0.0:1.0:0.0:0.0	.	313;340;289;290;290;289	B7Z2U7;B7Z9U3;F8VVB6;B3KTI3;Q99435;Q96JS2	.;.;.;.;NELL2_HUMAN;.	S	289;290;289;290;289;313;340;289;63;290	ENSP00000378866:G289S;ENSP00000390680:G290S;ENSP00000449332:G289S;ENSP00000394612:G290S;ENSP00000447927:G289S;ENSP00000327988:G313S;ENSP00000416341:G340S;ENSP00000450102:G63S;ENSP00000447085:G290S	ENSP00000327988:G313S	G	-	1	0	NELL2	43456095	1.000000	0.71417	0.997000	0.53966	0.988000	0.76386	7.442000	0.80503	2.645000	0.89757	0.650000	0.86243	GGC		0.418	NELL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404180.1	NM_006159		11	21	0	0	0	1	0	11	21					T	45169828	C	T	45169828	3	4	435	1	0	0	0	0	1	0	0	0	10334	652	23	2	1634	2	NELL2	12	45169828	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	168845	45169828	88682067	5649	26574											
ANO6	196527	broad.mit.edu	37	chr12	45751119	45751119	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tctactttgcttggctgggcTattacactcagatgcttctc	6	16	8	11	0	3	1	1	0	2	1	4	1	3	1	0	2	4	4	0	2	3	6			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:45751119T>C	ENST00000320560.8	+	8	1112	c.910T>C	c.(910-912)Tat>Cat	p.Y304H	ANO6_ENST00000425752.2_Missense_Mutation_p.Y304H|ANO6_ENST00000435642.1_Missense_Mutation_p.Y304H|ANO6_ENST00000423947.3_Missense_Mutation_p.Y325H|ANO6_ENST00000441606.2_Missense_Mutation_p.Y286H|ANO6_ENST00000426898.2_3'UTR	NM_001025356.2	NP_001020527.2	Q4KMQ2	ANO6_HUMAN	anoctamin 6	304					activation of blood coagulation via clotting cascade (GO:0002543)|blood coagulation (GO:0007596)|bone mineralization involved in bone maturation (GO:0035630)|calcium activated galactosylceramide scrambling (GO:0061591)|calcium activated phosphatidylcholine scrambling (GO:0061590)|calcium activated phosphatidylserine scrambling (GO:0061589)|cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|dendritic cell chemotaxis (GO:0002407)|ion transmembrane transport (GO:0034220)|phosphatidylserine exposure on blood platelet (GO:0097045)|phospholipid scrambling (GO:0017121)|positive regulation of endothelial cell apoptotic process (GO:2000353)|regulation of anion transport (GO:0044070)|transmembrane transport (GO:0055085)	cell surface (GO:0009986)|chloride channel complex (GO:0034707)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|intracellular calcium activated chloride channel activity (GO:0005229)|phospholipid scramblase activity (GO:0017128)|voltage-gated chloride channel activity (GO:0005247)|voltage-gated ion channel activity (GO:0005244)			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						TTGGCTGGGCTATTACACTCA	0.393																																						ENST00000320560.8																			0				central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						c.(910-912)Tat>Cat		anoctamin 6							142	141	141					12																	45751119		2203	4300	6503	SO:0001583	missense	196527				activation of blood coagulation via clotting cascade|phosphatidylserine exposure on blood platelet	chloride channel complex|plasma membrane	chloride channel activity	g.chr12:45751119T>C	AL832340	CCDS31782.1, CCDS44865.1, CCDS44866.1, CCDS55819.1	12q12-q13.11	2014-09-17	2008-08-28	2008-08-28				"Ion channels / Chloride channels : Calcium activated : Anoctamins"	25240	protein-coding gene	gene with protein product		608663	"transmembrane protein 16F"	TMEM16F		15067359, 24692353	Standard	NM_001025356		Approved	DKFZp313M0720	uc010slf.2	Q4KMQ2	OTTHUMG00000169564	ENST00000320560.8:c.910T>C	12.37:g.45751119T>C	ENSP00000320087:p.Tyr304His					ANO6_ENST00000425752.2_Missense_Mutation_p.Y304H|ANO6_ENST00000441606.2_Missense_Mutation_p.Y286H|ANO6_ENST00000435642.1_Missense_Mutation_p.Y304H|ANO6_ENST00000426898.2_3'UTR|ANO6_ENST00000423947.3_Missense_Mutation_p.Y325H	p.Y304H	NM_001025356.2	NP_001020527.2	Q4KMQ2	ANO6_HUMAN			8	1112	+			304					A6NNM6|B9EGG0|E7ENK4|E9PB30|E9PCT2|Q8N3Q2	Missense_Mutation	SNP	ENST00000320560.8	37	c.910T>C	CCDS31782.1	.	.	.	.	.	.	.	.	.	.	T	21.2	4.114160	0.77210	.	.	ENSG00000177119	ENST00000425752;ENST00000423947;ENST00000435642;ENST00000320560;ENST00000441606	T;T;T;T;T	0.64085	-0.08;-0.08;-0.08;-0.08;-0.08	5.26	5.26	0.73747	.	0.180746	0.49305	D	0.000151	T	0.67287	0.2877	L	0.28054	0.825	0.43907	D	0.996546	D;B;D;P	0.63880	0.979;0.051;0.993;0.845	P;B;D;P	0.63703	0.905;0.098;0.917;0.642	T	0.70710	-0.4797	10	0.59425	D	0.04	.	15.898	0.79350	0.0:0.0:0.0:1.0	.	286;325;304;304	E9PB30;B9EGG0;E9PCT2;Q4KMQ2	.;.;.;ANO6_HUMAN	H	304;325;304;304;286	ENSP00000391417:Y304H;ENSP00000409126:Y325H;ENSP00000413840:Y304H;ENSP00000320087:Y304H;ENSP00000413137:Y286H	ENSP00000320087:Y304H	Y	+	1	0	ANO6	44037386	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.136000	0.71703	2.291000	0.77112	0.533000	0.62120	TAT		0.393	ANO6-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000404822.1	XM_113743		28	50	0	0	0	1	0	28	50					C	45751119	T	C	45751119	3	2	435	1	0	0	0	0	1	0	0	0	701	1522	53	4	960	4	ANO6	12	45751119	Missense_Mutation	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	581291	45751119	88100776	5650	26575											
ARID2	196528	broad.mit.edu	37	chr12	46245688	46245688	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aggtttacatgttcatgaacGtaaaattgaagtcatggaga	15	12	10	4	1	2	3	2	2	0	1	2	4	2	3	0	2	2	3	0	2	5	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:46245688G>A	ENST00000334344.6	+	15	3954	c.3782G>A	c.(3781-3783)cGt>cAt	p.R1261H	ARID2_ENST00000422737.1_Missense_Mutation_p.R1112H|ARID2_ENST00000479608.1_3'UTR|ARID2_ENST00000444670.1_Missense_Mutation_p.R871H|ARID2_ENST00000457135.1_5'Flank	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	1261					chromatin modification (GO:0016568)|nucleosome disassembly (GO:0006337)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		GTTCATGAACGTAAAATTGAA	0.428			"N, S, F"		hepatocellular carcinoma																																	ENST00000334344.6				Rec	yes		12	12q12	196528	"N, S, F"	AT rich interactive domain 2			E			hepatocellular carcinoma		0				NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116						c.(3781-3783)cGt>cAt		AT rich interactive domain 2 (ARID, RFX-like)							67	63	64					12																	46245688		2203	4300	6503	SO:0001583	missense	196528				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr12:46245688G>A		CCDS31783.1	12q13.11	2013-02-07			ENSG00000189079	ENSG00000189079		"-"	18037	protein-coding gene	gene with protein product		609539					Standard	NM_152641		Approved	KIAA1557, DKFZp686G052, FLJ30619, BAF200	uc001ros.1	Q68CP9	OTTHUMG00000150487	ENST00000334344.6:c.3782G>A	12.37:g.46245688G>A	ENSP00000335044:p.Arg1261His					ARID2_ENST00000422737.1_Missense_Mutation_p.R1112H|ARID2_ENST00000479608.1_3'UTR|ARID2_ENST00000444670.1_Missense_Mutation_p.R871H	p.R1261H	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)	15	3954	+	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	1261					Q15KG9|Q5EB51|Q645I3|Q6ZRY5|Q7Z3I5|Q86T28|Q96SJ6|Q9HCL5	Missense_Mutation	SNP	ENST00000334344.6	37	c.3782G>A	CCDS31783.1	.	.	.	.	.	.	.	.	.	.	G	20.0	3.930702	0.73327	.	.	ENSG00000189079	ENST00000334344;ENST00000549153;ENST00000338636;ENST00000422737;ENST00000444670	T	0.57436	0.4	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.66607	0.2806	L	0.32530	0.975	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.998;0.996	T	0.66540	-0.5898	10	0.87932	D	0	-10.2225	20.8794	0.99867	0.0:0.0:1.0:0.0	.	1261;871;1261	Q68CP9-3;F8W108;Q68CP9	.;.;ARID2_HUMAN	H	1261;378;378;1112;871	ENSP00000335044:R1261H	ENSP00000335044:R1261H	R	+	2	0	ARID2	44531955	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.188000	0.94921	2.941000	0.99782	0.655000	0.94253	CGT		0.428	ARID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318380.2	XM_350875		11	27	0	0	0	1	0	11	27					A	46245688	G	A	46245688	3	1	435	1	0	0	0	0	1	0	0	0	915	1145	40	1	3840	1	ARID2	12	46245688	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	494569	46245688	87606207	5651	26576											
SFRS2IP	9169	broad.mit.edu	37	chr12	46320481	46320482	+	Frame_Shift_Ins	INS	-	-	T																															cagcatctagatggatgtcaINStttttttcttttcttgtatt																										TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:46320481_46320482insT	ENST00000369367.3	-	11	3235_3236	c.3002_3003insA	c.(3001-3003)aatfs	p.N1001fs	SCAF11_ENST00000465950.1_Frame_Shift_Ins_p.N686fs|SCAF11_ENST00000419565.2_Frame_Shift_Ins_p.N1001fs|SCAF11_ENST00000549162.1_Frame_Shift_Ins_p.N809fs|SCAF11_ENST00000550629.1_5'Flank	NM_004719.2	NP_004710.2	Q99590	SCAFB_HUMAN	SR-related CTD-associated factor 11	1001					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)|spliceosomal complex assembly (GO:0000245)	nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.N1001fs*2(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(17)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	69						GATGGATGTCATTTTTTTCTTT	0.386																																						ENST00000465950.1																			1	Insertion - Frameshift(1)	p.N1001fs*2(1)	large_intestine(1)	breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(17)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	69						c.(2056-2058)agafs		SR-related CTD-associated factor 11																																				SO:0001589	frameshift_variant	9169				spliceosome assembly	nucleus	protein binding|zinc ion binding	g.chr12:46320481_46320482insT	Y11251	CCDS8748.2	12q13.11	2013-01-09	2011-01-10	2011-01-10	ENSG00000139218	ENSG00000139218		"RING-type (C3HC4) zinc fingers"	10784	protein-coding gene	gene with protein product		603668	"splicing factor, arginine/serine-rich 2, interacting protein", "serine/arginine-rich splicing factor 2, interacting protein"	SFRS2IP, SRSF2IP		9224939, 9447963	Standard	NM_004719		Approved	SIP1, SRRP129, CASP11	uc001rox.3	Q99590	OTTHUMG00000149930	ENST00000369367.3:c.3003dupA	12.37:g.46320488_46320488dupT	ENSP00000358374:p.Asn1001fs					SCAF11_ENST00000549162.1_Frame_Shift_Ins_p.R809fs|SCAF11_ENST00000369367.3_Frame_Shift_Ins_p.R1001fs|SCAF11_ENST00000419565.2_Frame_Shift_Ins_p.R1001fs	p.R686fs			Q99590	SCAFB_HUMAN			1	3266_3267	-			1001					A6NEU9|A6NLW5|Q8IW59	Frame_Shift_Ins	INS	ENST00000369367.3	37	c.2057_2058insA	CCDS8748.2																																																																																				0.386	SCAF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313992.2	NM_004719		53	103						53	103	---	---	---	---	T	46320482	-	T	46320481	7	5	435	1	0	1	1	0	0	0	0	0	14177	214	8	0	1408	0	SFRS2IP	12	46320481	Frame_Shift_Ins	INS	-	TCGA-XK-AAIW-01A-11D-A41K-08	74793	46320481	87531414	5652	26577											
SLC38A2	54407	broad.mit.edu	37	chr12	46756336	46756336	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgacaagtaaattggtaaatGccaagatagacactgtaatg	17	10	9	5	0	0	3	0	1	0	2	0	3	0	3	1	1	1	3	1	1	8	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:46756336G>A	ENST00000256689.5	-	14	1709	c.1265C>T	c.(1264-1266)gCa>gTa	p.A422V	SLC38A2_ENST00000551374.1_Missense_Mutation_p.A260V|SLC38A2_ENST00000547252.1_5'Flank	NM_018976.4	NP_061849.2	Q96QD8	S38A2_HUMAN	solute carrier family 38, member 2	422					amino acid transport (GO:0006865)|glutamate secretion (GO:0014047)|ion transport (GO:0006811)|neurotransmitter secretion (GO:0007269)|sodium ion transport (GO:0006814)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	amino acid transmembrane transporter activity (GO:0015171)|symporter activity (GO:0015293)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	18	Lung SC(27;0.192)|Renal(347;0.236)		OV - Ovarian serous cystadenocarcinoma(5;0.0048)|Epithelial(2;0.0374)	GBM - Glioblastoma multiforme(48;0.226)		ATTGGTAAATGCCAAGATAGA	0.363																																					Ovarian(9;448 492 8335 28722 40361)	ENST00000256689.5																			0				cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	18						c.(1264-1266)gCa>gTa		solute carrier family 38, member 2							98	93	95					12																	46756336		2202	4300	6502	SO:0001583	missense	54407				cellular nitrogen compound metabolic process|glutamate secretion|neurotransmitter secretion|sodium ion transport	integral to membrane|plasma membrane	amino acid transmembrane transporter activity|symporter activity	g.chr12:46756336G>A	AB037803	CCDS8749.1	12q13.11	2014-08-12			ENSG00000134294	ENSG00000134294		"Solute carriers"	13448	protein-coding gene	gene with protein product		605180				10747860, 17237199	Standard	NM_018976		Approved	SAT2, ATA2, KIAA1382, SNAT2	uc001rpg.3	Q96QD8	OTTHUMG00000169471	ENST00000256689.5:c.1265C>T	12.37:g.46756336G>A	ENSP00000256689:p.Ala422Val					SLC38A2_ENST00000551374.1_Missense_Mutation_p.A260V	p.A422V	NM_018976.4	NP_061849.2	Q96QD8	S38A2_HUMAN	OV - Ovarian serous cystadenocarcinoma(5;0.0048)|Epithelial(2;0.0374)	GBM - Glioblastoma multiforme(48;0.226)	14	1709	-	Lung SC(27;0.192)|Renal(347;0.236)		422					Q6IA88|Q6ZMG2|Q9HAV3|Q9NVA8|Q9P2G5	Missense_Mutation	SNP	ENST00000256689.5	37	c.1265C>T	CCDS8749.1	.	.	.	.	.	.	.	.	.	.	G	4.009	-0.001039	0.07819	.	.	ENSG00000134294	ENST00000256689;ENST00000551374	T;T	0.01887	4.58;4.58	5.79	-2.87	0.05700	.	0.701572	0.14693	N	0.304041	T	0.01353	0.0044	N	0.25890	0.77	0.09310	N	0.999997	B;B;B	0.06786	0.001;0.0;0.0	B;B;B	0.12156	0.003;0.007;0.006	T	0.48833	-0.9000	10	0.02654	T	1	0.6631	7.9811	0.30183	0.2942:0.2822:0.4236:0.0	.	260;322;422	F8VQW8;Q96QD8-2;Q96QD8	.;.;S38A2_HUMAN	V	422;260	ENSP00000256689:A422V;ENSP00000450406:A260V	ENSP00000256689:A422V	A	-	2	0	SLC38A2	45042603	0.004000	0.15560	0.287000	0.24848	0.970000	0.65996	0.072000	0.14617	-0.375000	0.07955	0.650000	0.86243	GCA		0.363	SLC38A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404226.1			23	41	0	0	0	1	0	23	41					A	46756336	G	A	46756336	3	1	435	1	0	0	0	0	1	0	0	0	14604	1319	46	3	267	3	SLC38A2	12	46756336	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	435855	46756336	87095559	5653	26578											
SLC38A2	54407	broad.mit.edu	37	chr12	46757607	46757607	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcatcattcttctacggctgCggctatgtaattcaagagaa	11	13	8	9	2	5	1	3	0	2	1	5	2	5	1	0	2	2	3	0	2	5	6			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:46757607C>T	ENST00000256689.5	-	12	1400	c.956G>A	c.(955-957)cGc>cAc	p.R319H	SLC38A2_ENST00000551374.1_Missense_Mutation_p.R157H|SLC38A2_ENST00000547252.1_5'Flank	NM_018976.4	NP_061849.2	Q96QD8	S38A2_HUMAN	solute carrier family 38, member 2	319					amino acid transport (GO:0006865)|glutamate secretion (GO:0014047)|ion transport (GO:0006811)|neurotransmitter secretion (GO:0007269)|sodium ion transport (GO:0006814)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	amino acid transmembrane transporter activity (GO:0015171)|symporter activity (GO:0015293)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	18	Lung SC(27;0.192)|Renal(347;0.236)		OV - Ovarian serous cystadenocarcinoma(5;0.0048)|Epithelial(2;0.0374)	GBM - Glioblastoma multiforme(48;0.226)		TCTACGGCTGCGGCTATGTAA	0.333																																					Ovarian(9;448 492 8335 28722 40361)	ENST00000256689.5																			0				cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	18						c.(955-957)cGc>cAc		solute carrier family 38, member 2							89	91	90					12																	46757607		2202	4298	6500	SO:0001583	missense	54407				cellular nitrogen compound metabolic process|glutamate secretion|neurotransmitter secretion|sodium ion transport	integral to membrane|plasma membrane	amino acid transmembrane transporter activity|symporter activity	g.chr12:46757607C>T	AB037803	CCDS8749.1	12q13.11	2014-08-12			ENSG00000134294	ENSG00000134294		"Solute carriers"	13448	protein-coding gene	gene with protein product		605180				10747860, 17237199	Standard	NM_018976		Approved	SAT2, ATA2, KIAA1382, SNAT2	uc001rpg.3	Q96QD8	OTTHUMG00000169471	ENST00000256689.5:c.956G>A	12.37:g.46757607C>T	ENSP00000256689:p.Arg319His					SLC38A2_ENST00000551374.1_Missense_Mutation_p.R157H	p.R319H	NM_018976.4	NP_061849.2	Q96QD8	S38A2_HUMAN	OV - Ovarian serous cystadenocarcinoma(5;0.0048)|Epithelial(2;0.0374)	GBM - Glioblastoma multiforme(48;0.226)	12	1400	-	Lung SC(27;0.192)|Renal(347;0.236)		319					Q6IA88|Q6ZMG2|Q9HAV3|Q9NVA8|Q9P2G5	Missense_Mutation	SNP	ENST00000256689.5	37	c.956G>A	CCDS8749.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.249105	0.80024	.	.	ENSG00000134294	ENST00000256689;ENST00000551374	T;T	0.02446	4.29;4.29	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	T	0.17408	0.0418	M	0.79475	2.455	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.962;1.0;0.999	T	0.00060	-1.2162	10	0.66056	D	0.02	-7.9427	19.5567	0.95351	0.0:1.0:0.0:0.0	.	157;219;319	F8VQW8;Q96QD8-2;Q96QD8	.;.;S38A2_HUMAN	H	319;157	ENSP00000256689:R319H;ENSP00000450406:R157H	ENSP00000256689:R319H	R	-	2	0	SLC38A2	45043874	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	4.496000	0.60360	2.711000	0.92665	0.563000	0.77884	CGC		0.333	SLC38A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404226.1			13	25	0	0	0	1	0	13	25					T	46757607	C	T	46757607	3	4	435	1	0	0	0	0	1	0	0	0	14604	768	27	1	584	1	SLC38A2	12	46757607	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	1271	46757607	87094288	5654	26579											
AMIGO2	91523	broad.mit.edu	37	chr12	47472244	47472244	+	5'Flank	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttccaacatacaaatccatcGgaaactgtgtgagaaaattt	16	11	6	8	1	0	1	0	1	0	1	3	3	2	2	2	1	3	0	2	1	6	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:47472244G>A	ENST00000546455.1	+	0	0				AMIGO2_ENST00000321382.3_Missense_Mutation_p.P181L|AMIGO2_ENST00000550413.1_Missense_Mutation_p.P181L|AMIGO2_ENST00000429635.1_Missense_Mutation_p.P181L|AMIGO2_ENST00000266581.4_Missense_Mutation_p.P181L			Q96HM7	PED1B_HUMAN	PC-esterase domain containing 1B								hydrolase activity (GO:0016787)										CAAATCCATCGGAAACTGTGT	0.398																																						ENST00000266581.4																			0				endometrium(2)|kidney(1)|large_intestine(8)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						c.(541-543)cCg>cTg		adhesion molecule with Ig-like domain 2							70	70	70					12																	47472244		2203	4300	6503	SO:0001631	upstream_gene_variant	347902				heterophilic cell-cell adhesion|homophilic cell adhesion	integral to membrane|nucleus|plasma membrane		g.chr12:47472244G>A	BC016154	CCDS8752.1	12q13.11	2012-06-11	2012-06-11	2012-06-11	ENSG00000179715	ENSG00000179715			28255	protein-coding gene	gene with protein product			"family with sequence similarity 113, member B"	FAM113B		20056006	Standard	NM_138371		Approved	MGC16044	uc001rpq.3	Q96HM7	OTTHUMG00000169617		12.37:g.47472244G>A	Exception_encountered					AMIGO2_ENST00000321382.3_Missense_Mutation_p.P181L|AMIGO2_ENST00000550413.1_Missense_Mutation_p.P181L|AMIGO2_ENST00000429635.1_Missense_Mutation_p.P181L	p.P181L	NM_181847.4	NP_862830.1	Q86SJ2	AMGO2_HUMAN			2	1008	-	Renal(347;0.138)|Lung SC(27;0.192)		181					Q96B20	Missense_Mutation	SNP	ENST00000546455.1	37	c.542C>T	CCDS8752.1	.	.	.	.	.	.	.	.	.	.	G	25.3	4.627373	0.87560	.	.	ENSG00000139211	ENST00000266581;ENST00000550413;ENST00000429635;ENST00000321382	T;T;T;T	0.02395	4.31;4.31;4.31;4.31	4.83	4.83	0.62350	.	0.000000	0.85682	D	0.000000	T	0.19327	0.0464	M	0.87827	2.91	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.00829	-1.1549	10	0.72032	D	0.01	-14.5994	17.7901	0.88550	0.0:0.0:1.0:0.0	.	181	Q86SJ2	AMGO2_HUMAN	L	181	ENSP00000266581:P181L;ENSP00000449034:P181L;ENSP00000406020:P181L;ENSP00000320848:P181L	ENSP00000266581:P181L	P	-	2	0	AMIGO2	45758511	1.000000	0.71417	0.994000	0.49952	0.983000	0.72400	9.718000	0.98758	2.611000	0.88343	0.655000	0.94253	CCG		0.398	PCED1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405079.1	NM_138371		5	56	0	0	0	1	0	5	56					A	47472244	G	A	47472244	1	1	435	0	1	0	0	0	0	0	0	0	576	1116	39	2		2	AMIGO2	12	47472244	5'Flank	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	714637	47472244	86379651	5655	26580											
FAM113B	91523	broad.mit.edu	37	chr12	47629002	47629002	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gggcagcttagagcaaggggGgagctgaacttcgaacaaga	13	5	16	7	1	0	3	0	1	0	2	1	5	0	4	0	4	5	4	0	4	5	2	rs543024534		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:47629002G>A	ENST00000546455.1	+	4	887	c.156G>A	c.(154-156)ggG>ggA	p.G52G	RP11-493L12.3_ENST00000547748.1_RNA|PCED1B_ENST00000432328.1_Silent_p.G52G			Q96HM7	PED1B_HUMAN	PC-esterase domain containing 1B	52							hydrolase activity (GO:0016787)										GAGCAAGGGGGGAGCTGAACT	0.612													G|||	1	0.000199681	0	0.0014	5008	,	,		18635	0		0	False		,,,				2504	0					ENST00000546455.1																			0											c.(154-156)ggG>ggA		PC-esterase domain containing 1B							78	70	73					12																	47629002		2203	4300	6503	SO:0001819	synonymous_variant	91523							g.chr12:47629002G>A	BC016154	CCDS8752.1	12q13.11	2012-06-11	2012-06-11	2012-06-11	ENSG00000179715	ENSG00000179715			28255	protein-coding gene	gene with protein product			"family with sequence similarity 113, member B"	FAM113B		20056006	Standard	NM_138371		Approved	MGC16044	uc001rpq.3	Q96HM7	OTTHUMG00000169617	ENST00000546455.1:c.156G>A	12.37:g.47629002G>A						PCED1B_ENST00000432328.1_Silent_p.G52G	p.G52G							4	887	+								Q96B20	Silent	SNP	ENST00000546455.1	37	c.156G>A	CCDS8752.1																																																																																				0.612	PCED1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405079.1	NM_138371		12	17	0	0	0	1	0	12	17					A	47629002	G	A	47629002	2	1	435	1	0	0	0	0	0	0	0	1	5402	1219	43	3		3	FAM113B	12	47629002	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	156758	47629002	86222893	5656	26581											
FAM113B	91523	broad.mit.edu	37	chr12	47629421	47629421	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggccaccttcctgaaaaacgAagtggtcaaagccaacttcc	13	7	8	13	1	1	1	1	1	0	0	3	2	3	1	5	2	3	0	5	2	5	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:47629421A>G	ENST00000546455.1	+	4	1306	c.575A>G	c.(574-576)gAa>gGa	p.E192G	RP11-493L12.3_ENST00000547748.1_RNA|PCED1B_ENST00000432328.1_Missense_Mutation_p.E192G			Q96HM7	PED1B_HUMAN	PC-esterase domain containing 1B	192							hydrolase activity (GO:0016787)										CTGAAAAACGAAGTGGTCAAA	0.582																																						ENST00000546455.1																			0											c.(574-576)gAa>gGa		PC-esterase domain containing 1B							32	26	28					12																	47629421		2203	4298	6501	SO:0001583	missense	91523							g.chr12:47629421A>G	BC016154	CCDS8752.1	12q13.11	2012-06-11	2012-06-11	2012-06-11	ENSG00000179715	ENSG00000179715			28255	protein-coding gene	gene with protein product			"family with sequence similarity 113, member B"	FAM113B		20056006	Standard	NM_138371		Approved	MGC16044	uc001rpq.3	Q96HM7	OTTHUMG00000169617	ENST00000546455.1:c.575A>G	12.37:g.47629421A>G	ENSP00000446688:p.Glu192Gly					PCED1B_ENST00000432328.1_Missense_Mutation_p.E192G	p.E192G							4	1306	+								Q96B20	Missense_Mutation	SNP	ENST00000546455.1	37	c.575A>G	CCDS8752.1	.	.	.	.	.	.	.	.	.	.	A	11.72	1.723796	0.30593	.	.	ENSG00000179715	ENST00000546455;ENST00000432328;ENST00000548348;ENST00000330951	T;T;T	0.18016	2.24;2.24;2.24	4.29	-8.58	0.00897	Esterase, SGNH hydrolase-type (1);Esterase, SGNH hydrolase-type, subgroup (1);	4.026210	0.01177	N	0.006994	T	0.10852	0.0265	N	0.14661	0.345	0.09310	N	1	B	0.16802	0.019	B	0.24848	0.056	T	0.29088	-1.0023	10	0.66056	D	0.02	5.043	9.6387	0.39826	0.7315:0.086:0.0964:0.086	.	192	Q96HM7	F113B_HUMAN	G	192;192;72;72	ENSP00000446688:E192G;ENSP00000396040:E192G;ENSP00000448693:E72G	ENSP00000328560:E72G	E	+	2	0	FAM113B	45915688	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.675000	0.05227	-2.799000	0.00353	-1.777000	0.00654	GAA		0.582	PCED1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405079.1	NM_138371		10	12	0	0	0	1	0	10	12					G	47629421	A	G	47629421	3	3	435	1	0	0	0	0	1	0	0	0	5402	246	9	4	577	4	FAM113B	12	47629421	Missense_Mutation	SNP	A	TCGA-XK-AAIW-01A-11D-A41K-08	419	47629421	86222474	5657	26582											
HDAC7	51564	broad.mit.edu	37	chr12	48190906	48190906	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttcttgggcttatagcgcagCttcaggttgggctcagagac	7	12	13	9	1	3	1	2	0	1	1	3	2	3	1	0	3	2	5	0	3	2	6			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:48190906C>T	ENST00000427332.2	-	7	636	c.480G>A	c.(478-480)aaG>aaA	p.K160K	HDAC7_ENST00000552960.1_Silent_p.K182K|HDAC7_ENST00000354334.3_Silent_p.K199K|HDAC7_ENST00000380610.4_Silent_p.K216K|HDAC7_ENST00000080059.7_Silent_p.K199K			Q8WUI4	HDAC7_HUMAN	histone deacetylase 7	160	Transcription repression 1. {ECO:0000250}.				cell-cell junction assembly (GO:0007043)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of cell migration involved in sprouting angiogenesis (GO:0090050)|transcription, DNA-templated (GO:0006351)|vasculogenesis (GO:0001570)	cytoplasm (GO:0005737)|histone deacetylase complex (GO:0000118)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	14-3-3 protein binding (GO:0071889)|activating transcription factor binding (GO:0033613)|chromatin binding (GO:0003682)|metal ion binding (GO:0046872)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|protein kinase binding (GO:0019901)|protein kinase C binding (GO:0005080)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714)			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25				GBM - Glioblastoma multiforme(48;0.137)		TATAGCGCAGCTTCAGGTTGG	0.622																																						ENST00000080059.7																			0				breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						c.(595-597)aaG>aaA		histone deacetylase 7							74	74	74					12																	48190906		2203	4300	6503	SO:0001819	synonymous_variant	51564				negative regulation of interleukin-2 production|negative regulation of osteoblast differentiation|positive regulation of cell migration involved in sprouting angiogenesis|transcription, DNA-dependent	cytoplasm|histone deacetylase complex	activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein kinase C binding|repressing transcription factor binding	g.chr12:48190906C>T	AF239243	CCDS8756.2, CCDS41776.1	12q13.1	2008-02-25	2008-02-25	2008-02-25	ENSG00000061273	ENSG00000061273			14067	protein-coding gene	gene with protein product		606542	"histone deacetylase 7A"	HDAC7A		10922406, 10640276	Standard	NM_015401		Approved	DKFZP586J0917	uc010slo.2	Q8WUI4	OTTHUMG00000152968	ENST00000427332.2:c.480G>A	12.37:g.48190906C>T						HDAC7_ENST00000552960.1_Silent_p.K182K|HDAC7_ENST00000380610.4_Silent_p.K216K|HDAC7_ENST00000354334.3_Silent_p.K199K|HDAC7_ENST00000427332.2_Silent_p.K160K	p.K199K	NM_015401.3	NP_056216.2	Q8WUI4	HDAC7_HUMAN		GBM - Glioblastoma multiforme(48;0.137)	7	596	-			160			Poly-Ser.|Transcription repression 1 (By similarity).		B3KY08|B4DWI0|B4E0Q5|Q6P1W9|Q6W9G7|Q7Z4K2|Q7Z5I1|Q96K01|Q9BR73|Q9H7L0|Q9NW41|Q9NWA9|Q9NYK9|Q9UFU7	Silent	SNP	ENST00000427332.2	37	c.597G>A																																																																																					0.622	HDAC7-013	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000328804.2			19	25	0	0	0	1	0	19	25					T	48190906	C	T	48190906	2	4	435	1	0	0	0	0	0	0	0	1	7012	796	28	3		3	HDAC7	12	48190906	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	561485	48190906	85660989	5658	26583											
VDR	7421	broad.mit.edu	37	chr12	48251320	48251320	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aagtcggagtaggtggggtcGtaggtcttatggtgggcgtc	6	11	19	5	3	1	0	0	0	1	0	4	1	1	1	0	7	0	2	0	7	4	3	rs140864473		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:48251320G>A	ENST00000395324.2	-	5	697	c.429C>T	c.(427-429)taC>taT	p.Y143Y	VDR_ENST00000549336.1_Silent_p.Y143Y|VDR_ENST00000535672.1_Silent_p.Y111Y|VDR_ENST00000229022.3_Silent_p.Y143Y|VDR_ENST00000550325.1_Silent_p.Y193Y			P11473	VDR_HUMAN	vitamin D (1,25- dihydroxyvitamin D3) receptor	143	Hinge.				bile acid signaling pathway (GO:0038183)|calcium ion transport (GO:0006816)|cell morphogenesis (GO:0000902)|cellular calcium ion homeostasis (GO:0006874)|decidualization (GO:0046697)|gene expression (GO:0010467)|intestinal absorption (GO:0050892)|lactation (GO:0007595)|mammary gland branching involved in pregnancy (GO:0060745)|negative regulation of cell proliferation (GO:0008285)|negative regulation of keratinocyte proliferation (GO:0010839)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|organ morphogenesis (GO:0009887)|positive regulation of apoptotic process involved in mammary gland involution (GO:0060058)|positive regulation of gene expression (GO:0010628)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vitamin D 24-hydroxylase activity (GO:0010980)|regulation of calcidiol 1-monooxygenase activity (GO:0060558)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)|transcription initiation from RNA polymerase II promoter (GO:0006367)|vitamin D receptor signaling pathway (GO:0070561)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	calcitriol binding (GO:1902098)|calcitriol receptor activity (GO:0008434)|DNA binding (GO:0003677)|lithocholic acid binding (GO:1902121)|lithocholic acid receptor activity (GO:0038186)|retinoid X receptor binding (GO:0046965)|sequence-specific DNA binding (GO:0043565)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(10)|ovary(3)|skin(2)	22		Acute lymphoblastic leukemia(13;0.109)|all_hematologic(14;0.214)		GBM - Glioblastoma multiforme(48;0.17)	Alfacalcidol(DB01436)|Calcidiol(DB00146)|Calcipotriol(DB02300)|Calcitriol(DB00136)|Cholecalciferol(DB00169)|Dihydrotachysterol(DB01070)|Ergocalciferol(DB00153)|Paricalcitol(DB00910)	AGGTGGGGTCGTAGGTCTTAT	0.617																																						ENST00000229022.3																			0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(10)|ovary(3)|skin(2)	22						c.(427-429)taC>taT		vitamin D (1,25- dihydroxyvitamin D3) receptor	Calcidiol(DB00146)|Calcipotriol(DB02300)|Calcitriol(DB00136)|Dihydrotachysterol(DB01070)|Ergocalciferol(DB00153)|Paricalcitol(DB00910)	G	,,	0,4406		0,0,2203	133	115	121		429,429,579	-8.9	0.3	12	dbSNP_134	121	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous,coding-synonymous,coding-synonymous	VDR	NM_000376.2,NM_001017535.1,NM_001017536.1	,,	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	,,	143/428,143/428,193/478	48251320	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	0				decidualization|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of vitamin D 24-hydroxylase activity|regulation of calcidiol 1-monooxygenase activity|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	retinoid X receptor binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|vitamin D3 receptor activity|zinc ion binding	g.chr12:48251320G>A	J03258	CCDS8757.1, CCDS55820.1	12q12-q14	2014-06-13				ENSG00000111424		"Nuclear hormone receptors"	12679	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 163"	601769				1662663	Standard	NM_001017536		Approved	NR1I1, PPP1R163	uc001rql.3	P11473		ENST00000395324.2:c.429C>T	12.37:g.48251320G>A						VDR_ENST00000535672.1_Silent_p.Y111Y|VDR_ENST00000395324.2_Silent_p.Y143Y|VDR_ENST00000549336.1_Silent_p.Y143Y|VDR_ENST00000550325.1_Silent_p.Y193Y	p.Y143Y	NM_001017535.1	NP_001017535.1	P11473	VDR_HUMAN		GBM - Glioblastoma multiforme(48;0.17)	6	710	-		Acute lymphoblastic leukemia(13;0.109)|all_hematologic(14;0.214)	143			Hinge.		B2R5Q1|G3V1V9|Q5PSV3	Silent	SNP	ENST00000395324.2	37	c.429C>T	CCDS8757.1																																																																																				0.617	VDR-001	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406433.1			14	16	0	0	0	1	0	14	16					A	48251320	G	A	48251320	2	1	435	1	0	0	0	0	0	0	0	1	17146	1140	40	1		1	VDR	12	48251320	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	60414	48251320	85600575	5659	26584											
VDR	7421	broad.mit.edu	37	chr12	48251385	48251385	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ctgctcctcagacagcttggGccgcagactgtccttcaagg	7	9	11	14	1	2	2	2	0	0	2	4	2	4	2	3	2	2	3	3	2	1	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:48251385G>A	ENST00000395324.2	-	5	632	c.364C>T	c.(364-366)Ccc>Tcc	p.P122S	VDR_ENST00000549336.1_Missense_Mutation_p.P122S|VDR_ENST00000535672.1_Missense_Mutation_p.P90S|VDR_ENST00000229022.3_Missense_Mutation_p.P122S|VDR_ENST00000550325.1_Missense_Mutation_p.P172S			P11473	VDR_HUMAN	vitamin D (1,25- dihydroxyvitamin D3) receptor	122	Hinge.				bile acid signaling pathway (GO:0038183)|calcium ion transport (GO:0006816)|cell morphogenesis (GO:0000902)|cellular calcium ion homeostasis (GO:0006874)|decidualization (GO:0046697)|gene expression (GO:0010467)|intestinal absorption (GO:0050892)|lactation (GO:0007595)|mammary gland branching involved in pregnancy (GO:0060745)|negative regulation of cell proliferation (GO:0008285)|negative regulation of keratinocyte proliferation (GO:0010839)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|organ morphogenesis (GO:0009887)|positive regulation of apoptotic process involved in mammary gland involution (GO:0060058)|positive regulation of gene expression (GO:0010628)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vitamin D 24-hydroxylase activity (GO:0010980)|regulation of calcidiol 1-monooxygenase activity (GO:0060558)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)|transcription initiation from RNA polymerase II promoter (GO:0006367)|vitamin D receptor signaling pathway (GO:0070561)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	calcitriol binding (GO:1902098)|calcitriol receptor activity (GO:0008434)|DNA binding (GO:0003677)|lithocholic acid binding (GO:1902121)|lithocholic acid receptor activity (GO:0038186)|retinoid X receptor binding (GO:0046965)|sequence-specific DNA binding (GO:0043565)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(10)|ovary(3)|skin(2)	22		Acute lymphoblastic leukemia(13;0.109)|all_hematologic(14;0.214)		GBM - Glioblastoma multiforme(48;0.17)	Alfacalcidol(DB01436)|Calcidiol(DB00146)|Calcipotriol(DB02300)|Calcitriol(DB00136)|Cholecalciferol(DB00169)|Dihydrotachysterol(DB01070)|Ergocalciferol(DB00153)|Paricalcitol(DB00910)	GACAGCTTGGGCCGCAGACTG	0.582																																						ENST00000229022.3																			0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(10)|ovary(3)|skin(2)	22						c.(364-366)Ccc>Tcc		vitamin D (1,25- dihydroxyvitamin D3) receptor	Calcidiol(DB00146)|Calcipotriol(DB02300)|Calcitriol(DB00136)|Dihydrotachysterol(DB01070)|Ergocalciferol(DB00153)|Paricalcitol(DB00910)						158	121	133					12																	48251385		2203	4300	6503	SO:0001583	missense	0				decidualization|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of vitamin D 24-hydroxylase activity|regulation of calcidiol 1-monooxygenase activity|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	retinoid X receptor binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|vitamin D3 receptor activity|zinc ion binding	g.chr12:48251385G>A	J03258	CCDS8757.1, CCDS55820.1	12q12-q14	2014-06-13				ENSG00000111424		"Nuclear hormone receptors"	12679	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 163"	601769				1662663	Standard	NM_001017536		Approved	NR1I1, PPP1R163	uc001rql.3	P11473		ENST00000395324.2:c.364C>T	12.37:g.48251385G>A	ENSP00000378734:p.Pro122Ser					VDR_ENST00000535672.1_Missense_Mutation_p.P90S|VDR_ENST00000395324.2_Missense_Mutation_p.P122S|VDR_ENST00000549336.1_Missense_Mutation_p.P122S|VDR_ENST00000550325.1_Missense_Mutation_p.P172S	p.P122S	NM_001017535.1	NP_001017535.1	P11473	VDR_HUMAN		GBM - Glioblastoma multiforme(48;0.17)	6	645	-		Acute lymphoblastic leukemia(13;0.109)|all_hematologic(14;0.214)	122			Hinge.		B2R5Q1|G3V1V9|Q5PSV3	Missense_Mutation	SNP	ENST00000395324.2	37	c.364C>T	CCDS8757.1	.	.	.	.	.	.	.	.	.	.	G	23.9	4.469829	0.84533	.	.	ENSG00000111424	ENST00000395324;ENST00000229022;ENST00000549336;ENST00000550325;ENST00000535672;ENST00000546653	D;D;D;D;D;D	0.93811	-3.25;-3.25;-3.25;-3.29;-3.21;-2.81	4.44	4.44	0.53790	Nuclear hormone receptor, ligand-binding (1);	0.114325	0.64402	D	0.000013	D	0.95478	0.8531	L	0.57536	1.79	0.80722	D	1	P;P;D	0.89917	0.786;0.786;1.0	B;P;D	0.91635	0.443;0.546;0.999	D	0.95046	0.8182	10	0.48119	T	0.1	.	14.9439	0.71014	0.0:0.0:1.0:0.0	.	90;122;172	B4DRV7;P11473;G3V1V9	.;VDR_HUMAN;.	S	122;122;122;172;90;122	ENSP00000378734:P122S;ENSP00000229022:P122S;ENSP00000449573:P122S;ENSP00000447173:P172S;ENSP00000442145:P90S;ENSP00000448659:P122S	ENSP00000229022:P122S	P	-	1	0	VDR	46537652	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.601000	0.98297	2.461000	0.83175	0.491000	0.48974	CCC		0.582	VDR-001	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406433.1			18	28	0	0	0	1	0	18	28					A	48251385	G	A	48251385	3	1	435	1	0	0	0	0	1	0	0	0	17146	1203	42	3	943	3	VDR	12	48251385	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	65	48251385	85600510	5660	26585											
VDR	7421	broad.mit.edu	37	chr12	48258928	48258928	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcagtccccgttgaaggggCaggtgaatagtgccttccgc	7	8	15	11	2	0	2	0	2	0	0	2	2	2	2	4	4	1	3	4	4	3	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:48258928C>T	ENST00000395324.2	-	4	447	c.179G>A	c.(178-180)tGc>tAc	p.C60Y	VDR_ENST00000549336.1_Missense_Mutation_p.C60Y|VDR_ENST00000535672.1_Missense_Mutation_p.C28Y|VDR_ENST00000229022.3_Missense_Mutation_p.C60Y|VDR_ENST00000550325.1_Missense_Mutation_p.C110Y			P11473	VDR_HUMAN	vitamin D (1,25- dihydroxyvitamin D3) receptor	60					bile acid signaling pathway (GO:0038183)|calcium ion transport (GO:0006816)|cell morphogenesis (GO:0000902)|cellular calcium ion homeostasis (GO:0006874)|decidualization (GO:0046697)|gene expression (GO:0010467)|intestinal absorption (GO:0050892)|lactation (GO:0007595)|mammary gland branching involved in pregnancy (GO:0060745)|negative regulation of cell proliferation (GO:0008285)|negative regulation of keratinocyte proliferation (GO:0010839)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|organ morphogenesis (GO:0009887)|positive regulation of apoptotic process involved in mammary gland involution (GO:0060058)|positive regulation of gene expression (GO:0010628)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vitamin D 24-hydroxylase activity (GO:0010980)|regulation of calcidiol 1-monooxygenase activity (GO:0060558)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)|transcription initiation from RNA polymerase II promoter (GO:0006367)|vitamin D receptor signaling pathway (GO:0070561)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	calcitriol binding (GO:1902098)|calcitriol receptor activity (GO:0008434)|DNA binding (GO:0003677)|lithocholic acid binding (GO:1902121)|lithocholic acid receptor activity (GO:0038186)|retinoid X receptor binding (GO:0046965)|sequence-specific DNA binding (GO:0043565)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(10)|ovary(3)|skin(2)	22		Acute lymphoblastic leukemia(13;0.109)|all_hematologic(14;0.214)		GBM - Glioblastoma multiforme(48;0.17)	Alfacalcidol(DB01436)|Calcidiol(DB00146)|Calcipotriol(DB02300)|Calcitriol(DB00136)|Cholecalciferol(DB00169)|Dihydrotachysterol(DB01070)|Ergocalciferol(DB00153)|Paricalcitol(DB00910)	GTTGAAGGGGCAGGTGAATAG	0.612																																						ENST00000229022.3																			0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(10)|ovary(3)|skin(2)	22						c.(178-180)tGc>tAc		vitamin D (1,25- dihydroxyvitamin D3) receptor	Calcidiol(DB00146)|Calcipotriol(DB02300)|Calcitriol(DB00136)|Dihydrotachysterol(DB01070)|Ergocalciferol(DB00153)|Paricalcitol(DB00910)						137	105	116					12																	48258928		2203	4300	6503	SO:0001583	missense	0				decidualization|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of vitamin D 24-hydroxylase activity|regulation of calcidiol 1-monooxygenase activity|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	retinoid X receptor binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|vitamin D3 receptor activity|zinc ion binding	g.chr12:48258928C>T	J03258	CCDS8757.1, CCDS55820.1	12q12-q14	2014-06-13				ENSG00000111424		"Nuclear hormone receptors"	12679	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 163"	601769				1662663	Standard	NM_001017536		Approved	NR1I1, PPP1R163	uc001rql.3	P11473		ENST00000395324.2:c.179G>A	12.37:g.48258928C>T	ENSP00000378734:p.Cys60Tyr					VDR_ENST00000535672.1_Missense_Mutation_p.C28Y|VDR_ENST00000395324.2_Missense_Mutation_p.C60Y|VDR_ENST00000549336.1_Missense_Mutation_p.C60Y|VDR_ENST00000550325.1_Missense_Mutation_p.C110Y	p.C60Y	NM_001017535.1	NP_001017535.1	P11473	VDR_HUMAN		GBM - Glioblastoma multiforme(48;0.17)	5	460	-		Acute lymphoblastic leukemia(13;0.109)|all_hematologic(14;0.214)	60					B2R5Q1|G3V1V9|Q5PSV3	Missense_Mutation	SNP	ENST00000395324.2	37	c.179G>A	CCDS8757.1	.	.	.	.	.	.	.	.	.	.	C	29.7	5.025924	0.93518	.	.	ENSG00000111424	ENST00000395324;ENST00000229022;ENST00000549336;ENST00000550325;ENST00000535672;ENST00000546653;ENST00000550314;ENST00000548664	D;D;D;D;D;D;D;D	0.99167	-5.51;-5.51;-5.51;-5.51;-5.51;-5.51;-5.51;-5.51	6.02	6.02	0.97574	Zinc finger, NHR/GATA-type (1);Zinc finger, nuclear hormone receptor-type (3);	0.190788	0.56097	D	0.000021	D	0.99648	0.9870	H	0.98594	4.275	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.97700	1.0184	10	0.87932	D	0	.	19.1045	0.93287	0.0:1.0:0.0:0.0	.	28;60;110	B4DRV7;P11473;G3V1V9	.;VDR_HUMAN;.	Y	60;60;60;110;28;60;60;60	ENSP00000378734:C60Y;ENSP00000229022:C60Y;ENSP00000449573:C60Y;ENSP00000447173:C110Y;ENSP00000442145:C28Y;ENSP00000448659:C60Y;ENSP00000449561:C60Y;ENSP00000450105:C60Y	ENSP00000229022:C60Y	C	-	2	0	VDR	46545195	1.000000	0.71417	0.998000	0.56505	0.932000	0.56968	7.703000	0.84585	2.865000	0.98341	0.655000	0.94253	TGC		0.612	VDR-001	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406433.1			19	47	0	0	0	1	0	19	47					T	48258928	C	T	48258928	3	4	435	1	0	0	0	0	1	0	0	0	17146	710	25	3	1132	3	VDR	12	48258928	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	7543	48258928	85592967	5661	26586											
COL2A1	1280	broad.mit.edu	37	chr12	48389522	48389522	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	aggttcaccaggttcaccagGattgccttgaaatccttgag	10	11	10	10	0	2	2	2	2	0	0	3	3	3	3	4	3	1	2	4	3	1	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:48389522G>A	ENST00000380518.3	-	10	843	c.679C>T	c.(679-681)Cct>Tct	p.P227S	COL2A1_ENST00000337299.6_Missense_Mutation_p.P158S	NM_001844.4|NM_033150.2	NP_001835.3|NP_149162.2	P02458	CO2A1_HUMAN	collagen, type II, alpha 1	227	Triple-helical region.				axon guidance (GO:0007411)|cartilage condensation (GO:0001502)|cartilage development (GO:0051216)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|cellular response to BMP stimulus (GO:0071773)|central nervous system development (GO:0007417)|chondrocyte differentiation (GO:0002062)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|embryonic skeletal joint morphogenesis (GO:0060272)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart morphogenesis (GO:0003007)|inner ear morphogenesis (GO:0042472)|limb bud formation (GO:0060174)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|notochord development (GO:0030903)|otic vesicle development (GO:0071599)|palate development (GO:0060021)|proteoglycan metabolic process (GO:0006029)|regulation of gene expression (GO:0010468)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|tissue homeostasis (GO:0001894)|visual perception (GO:0007601)	basement membrane (GO:0005604)|collagen type II trimer (GO:0005585)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(3)	64		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)			Collagenase(DB00048)	ggttcaccaggATTGCCTTGA	0.502																																						ENST00000380518.3																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(3)	64						c.(679-681)Cct>Tct		collagen, type II, alpha 1	Collagenase(DB00048)						59	58	58					12																	48389522		2203	4300	6503	SO:0001583	missense	1280				axon guidance|collagen fibril organization|embryonic skeletal joint morphogenesis|sensory perception of sound|visual perception	collagen type II	identical protein binding|platelet-derived growth factor binding	g.chr12:48389522G>A	X16468	CCDS8759.1, CCDS41778.1	12q12-q13.2	2013-11-14	2008-02-04		ENSG00000139219	ENSG00000139219		"Collagens"	2200	protein-coding gene	gene with protein product		120140	"collagen, type II, alpha 1 (primary osteoarthritis, spondyloepiphyseal dysplasia, congenital)", "arthroophthalmopathy, progressive (Stickler syndrome)"	SEDC, AOM		1677770	Standard	NM_033150		Approved	STL1	uc001rqu.3	P02458	OTTHUMG00000149896	ENST00000380518.3:c.679C>T	12.37:g.48389522G>A	ENSP00000369889:p.Pro227Ser					COL2A1_ENST00000337299.6_Missense_Mutation_p.P158S	p.P227S	NM_001844.4|NM_033150.2	NP_001835.3|NP_149162.2	P02458	CO2A1_HUMAN			10	843	-		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)	227			Triple-helical region.		A6NGA0|Q12985|Q14009|Q14044|Q14045|Q14046|Q14047|Q14056|Q14058|Q16672|Q1JQ82|Q2V4X7|Q6LBY1|Q6LBY2|Q6LBY3|Q96IT5|Q99227|Q9UE38|Q9UE39|Q9UE40|Q9UE41|Q9UE42|Q9UE43	Missense_Mutation	SNP	ENST00000380518.3	37	c.679C>T	CCDS41778.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.070292	0.76301	.	.	ENSG00000139219	ENST00000380518;ENST00000395281;ENST00000337299	D;D	0.94793	-3.52;-3.52	4.52	4.52	0.55395	.	0.000000	0.85682	D	0.000000	D	0.95990	0.8694	L	0.47716	1.5	0.80722	D	1	D;D	0.76494	0.989;0.999	D;D	0.91635	0.993;0.999	D	0.95977	0.8974	10	0.62326	D	0.03	.	17.2315	0.86985	0.0:0.0:1.0:0.0	.	158;227	P02458-1;P02458	.;CO2A1_HUMAN	S	227;158;158	ENSP00000369889:P227S;ENSP00000338213:P158S	ENSP00000338213:P158S	P	-	1	0	COL2A1	46675789	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.137000	0.77295	2.793000	0.96121	0.655000	0.94253	CCT		0.502	COL2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313810.2	NM_001844		12	12	0	0	0	1	0	12	12					A	48389522	G	A	48389522	3	1	435	1	0	0	0	0	1	0	0	0	3687	1174	41	3	3964	3	COL2A1	12	48389522	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	130594	48389522	85462373	5662	26587											
SENP1	29843	broad.mit.edu	37	chr12	48477397	48477397	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctgctgtactaacatgtcGcctctgagttttcttggggc	5	16	10	10	1	3	1	0	1	3	0	4	1	3	1	1	2	3	3	1	2	2	6			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:48477397G>A	ENST00000004980.5	-	6	1007	c.529C>T	c.(529-531)Cga>Tga	p.R177*	SENP1_ENST00000549518.1_Nonsense_Mutation_p.R177*|SENP1_ENST00000549595.1_Nonsense_Mutation_p.R177*|RNU6-1203P_ENST00000410703.1_RNA|SENP1_ENST00000547886.1_5'UTR|SENP1_ENST00000551330.1_Nonsense_Mutation_p.R177*|SENP1_ENST00000339976.6_3'UTR|SENP1_ENST00000448372.1_Nonsense_Mutation_p.R177*			Q9P0U3	SENP1_HUMAN	SUMO1/sentrin specific peptidase 1	177					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic signaling pathway (GO:0097190)|cellular protein metabolic process (GO:0044267)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-translational protein modification (GO:0043687)|protein desumoylation (GO:0016926)|protein sumoylation (GO:0016925)|proteolysis (GO:0006508)|regulation of definitive erythrocyte differentiation (GO:0010724)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	endopeptidase activity (GO:0004175)|SUMO-specific protease activity (GO:0016929)			large_intestine(3)|lung(1)|pancreas(2)|stomach(1)	7		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)				CTAACATGTCGCCTCTGAGTT	0.398																																						ENST00000004980.5																			0				large_intestine(3)|lung(1)|pancreas(2)|stomach(1)	7						c.(529-531)Cga>Tga		SUMO1/sentrin specific peptidase 1							113	106	108					12																	48477397		1864	4099	5963	SO:0001587	stop_gained	29843				activation of caspase activity|induction of apoptosis by extracellular signals|protein desumoylation|proteolysis	cytoplasm|nucleus	endopeptidase activity|SUMO-specific protease activity	g.chr12:48477397G>A	AF149770	CCDS44868.1, CCDS44868.2	12q13.1	2008-02-05	2005-08-17			ENSG00000079387			17927	protein-coding gene	gene with protein product		612157	"SUMO1/sentrin specific protease 1"			10652325, 14563852	Standard	NM_001267595		Approved		uc009zkx.4	Q9P0U3	OTTHUMG00000169896	ENST00000004980.5:c.529C>T	12.37:g.48477397G>A	ENSP00000004980:p.Arg177*					SENP1_ENST00000549595.1_Nonsense_Mutation_p.R177*|SENP1_ENST00000549518.1_Nonsense_Mutation_p.R177*|SENP1_ENST00000448372.1_Nonsense_Mutation_p.R177*|SENP1_ENST00000547886.1_5'UTR|SENP1_ENST00000551330.1_Nonsense_Mutation_p.R177*|SENP1_ENST00000339976.6_3'UTR	p.R177*			Q9P0U3	SENP1_HUMAN			6	1007	-		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)	177					A8K7P5|Q86XC8	Nonsense_Mutation	SNP	ENST00000004980.5	37	c.529C>T	CCDS44868.2	.	.	.	.	.	.	.	.	.	.	G	17.35	3.366229	0.61513	.	.	ENSG00000079387	ENST00000004980;ENST00000448372;ENST00000551330;ENST00000549595;ENST00000549518	.	.	.	3.96	3.96	0.45880	.	0.080001	0.47093	D	0.000246	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-6.3081	12.8877	0.58053	0.0:0.0:0.8365:0.1635	.	.	.	.	X	177	.	ENSP00000004980:R177X	R	-	1	2	SENP1	46763664	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.949000	0.40313	2.508000	0.84585	0.655000	0.94253	CGA		0.398	SENP1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000406471.1	NM_014554		10	16	0	0	0	1	0	10	16					A	48477397	G	A	48477397	4	1	435	1	0	0	0	0	0	1	0	0	14046	1095	38	1	1454	1	SENP1	12	48477397	Nonsense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	87875	48477397	85374498	5663	26588											
PFKM	5213	broad.mit.edu	37	chr12	48536609	48536609	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gcagctggcaccaagcgtcgGgtgtttatcattgagactat	9	11	12	9	2	1	1	1	1	0	1	2	2	1	1	1	2	2	4	1	2	3	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:48536609G>A	ENST00000312352.7	+	18	1737	c.1698G>A	c.(1696-1698)cgG>cgA	p.R566R	PFKM_ENST00000340802.6_Silent_p.R637R|PFKM_ENST00000551804.1_Silent_p.R535R|PFKM_ENST00000395233.2_Silent_p.R535R|PFKM_ENST00000359794.5_Silent_p.R566R|PFKM_ENST00000547587.1_Silent_p.R566R	NM_001166687.1	NP_001160159.1	P08237	PFKAM_HUMAN	phosphofructokinase, muscle	566	C-terminal regulatory PFK domain 2.				carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|fructose 6-phosphate metabolic process (GO:0006002)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|muscle cell cellular homeostasis (GO:0046716)|positive regulation of insulin secretion (GO:0032024)|protein oligomerization (GO:0051259)|small molecule metabolic process (GO:0044281)	6-phosphofructokinase complex (GO:0005945)|apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|sperm principal piece (GO:0097228)	6-phosphofructokinase activity (GO:0003872)|ATP binding (GO:0005524)|fructose binding (GO:0070061)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)			NS(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	35						CCAAGCGTCGGGTGTTTATCA	0.532																																						ENST00000340802.6																			0				NS(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	35						c.(1909-1911)cgG>cgA		phosphofructokinase, muscle							137	122	127					12																	48536609		2203	4300	6503	SO:0001819	synonymous_variant	5213				fructose 6-phosphate metabolic process|glycolysis|muscle cell homeostasis	6-phosphofructokinase complex|apical plasma membrane	6-phosphofructokinase activity|ATP binding|identical protein binding|kinase binding|metal ion binding|protein C-terminus binding	g.chr12:48536609G>A	M26066	CCDS8760.1, CCDS53786.1	12q13.11	2014-06-13					2.7.1.11		8877	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 122"	610681	"phosphofructokinase, polypeptide X"	PFKX			Standard	NM_001166686		Approved	PFK-1, PPP1R122	uc001rrb.2	P08237		ENST00000312352.7:c.1698G>A	12.37:g.48536609G>A						PFKM_ENST00000547587.1_Silent_p.R566R|PFKM_ENST00000395233.2_Silent_p.R535R|PFKM_ENST00000359794.5_Silent_p.R566R|PFKM_ENST00000551804.1_Silent_p.R535R|PFKM_ENST00000312352.7_Silent_p.R566R	p.R637R	NM_001166686.1	NP_001160158.1	P08237	K6PF_HUMAN			20	2135	+			566					J3KNX3|Q16814|Q16815|Q6ZTT1	Silent	SNP	ENST00000312352.7	37	c.1911G>A	CCDS8760.1																																																																																				0.532	PFKM-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406490.1	NM_000289		9	74	0	0	0	1	0	9	74					A	48536609	G	A	48536609	2	1	435	1	0	0	0	0	0	0	0	1	11765	1219	43	3		3	PFKM	12	48536609	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	59212	48536609	85315286	5664	26589											
PFKM	5213	broad.mit.edu	37	chr12	48537872	48537872	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ataccactgacttcattttcAacctgtactctgaggagggg	10	12	9	10	0	3	2	2	2	1	0	3	3	3	3	2	3	3	1	2	3	3	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:48537872A>G	ENST00000312352.7	+	20	1963	c.1924A>G	c.(1924-1926)Aac>Gac	p.N642D	PFKM_ENST00000340802.6_Missense_Mutation_p.N713D|PFKM_ENST00000551804.1_Missense_Mutation_p.N611D|PFKM_ENST00000395233.2_Missense_Mutation_p.N611D|PFKM_ENST00000359794.5_Missense_Mutation_p.N642D|PFKM_ENST00000547587.1_Missense_Mutation_p.N642D	NM_001166687.1	NP_001160159.1	P08237	PFKAM_HUMAN	phosphofructokinase, muscle	642	C-terminal regulatory PFK domain 2.				carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|fructose 6-phosphate metabolic process (GO:0006002)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|muscle cell cellular homeostasis (GO:0046716)|positive regulation of insulin secretion (GO:0032024)|protein oligomerization (GO:0051259)|small molecule metabolic process (GO:0044281)	6-phosphofructokinase complex (GO:0005945)|apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|sperm principal piece (GO:0097228)	6-phosphofructokinase activity (GO:0003872)|ATP binding (GO:0005524)|fructose binding (GO:0070061)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)			NS(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	35						CTTCATTTTCAACCTGTACTC	0.502																																						ENST00000340802.6																			0				NS(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	35						c.(2137-2139)Aac>Gac		phosphofructokinase, muscle							207	196	199					12																	48537872		2203	4300	6503	SO:0001583	missense	5213				fructose 6-phosphate metabolic process|glycolysis|muscle cell homeostasis	6-phosphofructokinase complex|apical plasma membrane	6-phosphofructokinase activity|ATP binding|identical protein binding|kinase binding|metal ion binding|protein C-terminus binding	g.chr12:48537872A>G	M26066	CCDS8760.1, CCDS53786.1	12q13.11	2014-06-13					2.7.1.11		8877	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 122"	610681	"phosphofructokinase, polypeptide X"	PFKX			Standard	NM_001166686		Approved	PFK-1, PPP1R122	uc001rrb.2	P08237		ENST00000312352.7:c.1924A>G	12.37:g.48537872A>G	ENSP00000309438:p.Asn642Asp					PFKM_ENST00000547587.1_Missense_Mutation_p.N642D|PFKM_ENST00000395233.2_Missense_Mutation_p.N611D|PFKM_ENST00000359794.5_Missense_Mutation_p.N642D|PFKM_ENST00000551804.1_Missense_Mutation_p.N611D|PFKM_ENST00000312352.7_Missense_Mutation_p.N642D	p.N713D	NM_001166686.1	NP_001160158.1	P08237	K6PF_HUMAN			22	2361	+			642					J3KNX3|Q16814|Q16815|Q6ZTT1	Missense_Mutation	SNP	ENST00000312352.7	37	c.2137A>G	CCDS8760.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	16.96|16.96	3.265135|3.265135	0.59431|0.59431	.|.	.|.	ENSG00000152556|ENSG00000152556	ENST00000340802;ENST00000359794;ENST00000395233;ENST00000551804;ENST00000547587;ENST00000312352|ENST00000553055	T;T;T;T;T;T|.	0.79554|.	-1.28;-1.28;-1.28;-1.28;-1.28;-1.28|.	4.83|4.83	4.83|4.83	0.62350|0.62350	Phosphofructokinase domain (2);|.	0.087164|.	0.85682|.	D|.	0.000000|.	T|T	0.48295|0.48295	0.1492|0.1492	N|N	0.16478|0.16478	0.41|0.41	0.80722|0.80722	D|D	1|1	P;P;B|.	0.44478|.	0.712;0.836;0.094|.	P;P;B|.	0.49953|.	0.457;0.627;0.044|.	T|T	0.43621|0.43621	-0.9380|-0.9380	10|5	0.06494|.	T|.	0.89|.	-27.1914|-27.1914	14.5477|14.5477	0.68044|0.68044	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	611;642;713|.	P08237-2;P08237;Q6ZTT1|.	.;K6PF_HUMAN;.|.	D|R	713;642;611;611;642;642|67	ENSP00000345771:N713D;ENSP00000352842:N642D;ENSP00000378656:N611D;ENSP00000448177:N611D;ENSP00000449426:N642D;ENSP00000309438:N642D|.	ENSP00000309438:N642D|.	N|Q	+|+	1|2	0|0	PFKM|PFKM	46824139|46824139	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	4.785000|4.785000	0.62418|0.62418	2.167000|2.167000	0.68274|0.68274	0.460000|0.460000	0.39030|0.39030	AAC|CAA		0.502	PFKM-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406490.1	NM_000289		43	65	0	0	0	1	0	43	65					G	48537872	A	G	48537872	3	3	435	1	0	0	0	0	1	0	0	0	11765	130	5	4	2219	4	PFKM	12	48537872	Missense_Mutation	SNP	A	TCGA-XK-AAIW-01A-11D-A41K-08	1263	48537872	85314023	5665	26590											
ASB8	140461	broad.mit.edu	37	chr12	48543494	48543494	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgatgactctgacctctgcGccataatccagaaggatgct	10	11	9	11	1	2	4	0	3	2	1	3	5	3	5	3	1	2	1	3	1	2	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:48543494G>A	ENST00000317697.3	-	4	691	c.522C>T	c.(520-522)ggC>ggT	p.G174G	ASB8_ENST00000536549.1_Silent_p.G174G|ASB8_ENST00000537754.1_5'UTR|ASB8_ENST00000536953.1_3'UTR|ASB8_ENST00000539528.1_3'UTR	NM_024095.3	NP_077000.1	Q9H765	ASB8_HUMAN	ankyrin repeat and SOCS box containing 8	174					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)		p.G174G(1)		breast(1)|kidney(2)|large_intestine(2)|lung(5)|soft_tissue(1)	11						TGACCTCTGCGCCATAATCCA	0.532																																						ENST00000317697.3																			1	Substitution - coding silent(1)	p.G174G(1)	large_intestine(1)	breast(1)|kidney(2)|large_intestine(2)|lung(5)|soft_tissue(1)	11						c.(520-522)ggC>ggT		ankyrin repeat and SOCS box containing 8							76	73	74					12																	48543494		2203	4300	6503	SO:0001819	synonymous_variant	0				intracellular signal transduction	cytoplasm|nucleus		g.chr12:48543494G>A	AK024908	CCDS8761.1	12q13.12	2013-01-10	2011-01-25			ENSG00000177981		"Ankyrin repeat domain containing"	17183	protein-coding gene	gene with protein product		615053	"ankyrin repeat and SOCS box-containing 8"			12076535	Standard	NM_024095		Approved	MGC5540, FLJ21255	uc001rrh.3	Q9H765		ENST00000317697.3:c.522C>T	12.37:g.48543494G>A						ASB8_ENST00000536953.1_3'UTR|ASB8_ENST00000536549.1_Silent_p.G174G|ASB8_ENST00000539528.1_3'UTR|ASB8_ENST00000537754.1_5'UTR	p.G174G	NM_024095.3	NP_077000.1	Q9H765	ASB8_HUMAN			4	691	-			174					A8K1P2|Q547Q2	Silent	SNP	ENST00000317697.3	37	c.522C>T	CCDS8761.1																																																																																				0.532	ASB8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396497.1			22	42	0	0	0	1	0	22	42					A	48543494	G	A	48543494	2	1	435	1	0	0	0	0	0	0	0	1	1029	1074	38	1		1	ASB8	12	48543494	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	5622	48543494	85308401	5666	26591											
ANP32D	23519	broad.mit.edu	37	chr12	48866542	48866542	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	caacagtcagtcaaatgaagGcaaattggaaggcctcacag	16	6	10	9	0	3	1	3	1	0	0	3	2	3	2	1	3	1	1	1	3	5	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:48866542G>A	ENST00000266594.1	+	1	95	c.95G>A	c.(94-96)gGc>gAc	p.G32D		NM_012404.2	NP_036536.2	O95626	AN32D_HUMAN	acidic (leucine-rich) nuclear phosphoprotein 32 family, member D	32						nuclear matrix (GO:0016363)				central_nervous_system(1)|large_intestine(2)|lung(3)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	9						TCAAATGAAGGCAAATTGGAA	0.413																																						ENST00000266594.1																			0				central_nervous_system(1)|large_intestine(2)|lung(3)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	9						c.(94-96)gGc>gAc		acidic (leucine-rich) nuclear phosphoprotein 32 family, member D							139	141	141					12																	48866542		2203	4300	6503	SO:0001583	missense	23519							g.chr12:48866542G>A	U71084	CCDS31788.1	12q13.12	2008-08-04			ENSG00000139223	ENSG00000139223		"ANP32 acidic nuclear phosphoproteins"	16676	protein-coding gene	gene with protein product	"pp32 related 2"	606878				10086381, 10400610	Standard	NM_012404		Approved	PP32R2	uc010slt.2	O95626	OTTHUMG00000162681	ENST00000266594.1:c.95G>A	12.37:g.48866542G>A	ENSP00000266594:p.Gly32Asp						p.G32D	NM_012404.2	NP_036536.2	O95626	AN32D_HUMAN			1	95	+			32					Q6NTC4	Missense_Mutation	SNP	ENST00000266594.1	37	c.95G>A	CCDS31788.1	.	.	.	.	.	.	.	.	.	.	G	16.75	3.208941	0.58343	.	.	ENSG00000139223	ENST00000266594	T	0.00330	8.08	1.57	1.57	0.23409	.	0.000000	0.85682	D	0.000000	T	0.00784	0.0026	M	0.92459	3.31	0.80722	D	1	P	0.41710	0.76	P	0.56514	0.8	T	0.57911	-0.7729	10	0.87932	D	0	.	8.8162	0.34998	0.0:0.0:1.0:0.0	.	32	O95626	AN32D_HUMAN	D	32	ENSP00000266594:G32D	ENSP00000266594:G32D	G	+	2	0	ANP32D	47152809	1.000000	0.71417	0.008000	0.14137	0.125000	0.20455	6.288000	0.72679	0.912000	0.36772	0.121000	0.15741	GGC		0.413	ANP32D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370058.1	NM_012404		52	88	0	0	0	1	0	52	88					A	48866542	G	A	48866542	3	1	435	1	0	0	0	0	1	0	0	0	708	1203	42	3	97	3	ANP32D	12	48866542	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	323048	48866542	84985353	5667	26592											
ADCY6	112	broad.mit.edu	37	chr12	49165679	49165679	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccaggaagtgggccgccacGtccttgggcagaatgttatg	8	8	15	10	2	0	1	0	0	0	1	1	2	1	2	4	3	0	2	4	3	3	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:49165679G>A	ENST00000307885.4	-	18	3559	c.2865C>T	c.(2863-2865)gaC>gaT	p.D955D	ADCY6_ENST00000550422.1_Silent_p.D902D|MIR4701_ENST00000583094.1_RNA|ADCY6_ENST00000357869.3_Silent_p.D902D|ADCY6_ENST00000552090.1_5'Flank	NM_015270.3	NP_056085.1	O43306	ADCY6_HUMAN	adenylate cyclase 6	955					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cAMP biosynthetic process (GO:0006171)|cellular response to catecholamine stimulus (GO:0071870)|cellular response to glucagon stimulus (GO:0071377)|cellular response to prostaglandin E stimulus (GO:0071380)|dopamine receptor signaling pathway (GO:0007212)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|negative regulation of neuron projection development (GO:0010977)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cilium (GO:0005929)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)			breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(16)|prostate(1)|skin(1)|urinary_tract(1)	29						GGGCCGCCACGTCCTTGGGCA	0.567																																						ENST00000307885.4																			0				breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(16)|prostate(1)|skin(1)|urinary_tract(1)	29						c.(2863-2865)gaC>gaT		adenylate cyclase 6							125	90	102					12																	49165679		2203	4300	6503	SO:0001819	synonymous_variant	112				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane	ATP binding|metal ion binding	g.chr12:49165679G>A		CCDS8767.1, CCDS8768.1	12q12-q13	2013-02-04				ENSG00000174233	4.6.1.1	"Adenylate cyclases"	237	protein-coding gene	gene with protein product		600294					Standard	NM_015270		Approved	AC6	uc001rsh.4	O43306		ENST00000307885.4:c.2865C>T	12.37:g.49165679G>A						ADCY6_ENST00000550422.1_Silent_p.D902D|ADCY6_ENST00000357869.3_Silent_p.D902D	p.D955D	NM_015270.3	NP_056085.1	O43306	ADCY6_HUMAN			18	3559	-			955					Q9NR75|Q9UDB0	Silent	SNP	ENST00000307885.4	37	c.2865C>T	CCDS8767.1																																																																																				0.567	ADCY6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408863.1	NM_020983		16	26	0	0	0	1	0	16	26					A	49165679	G	A	49165679	2	1	435	1	0	0	0	0	0	0	0	1	298	1136	40	1		1	ADCY6	12	49165679	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	299137	49165679	84686216	5668	26593											
ADCY6	112	broad.mit.edu	37	chr12	49172005	49172005	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgtgtgcagatgccaatgacGttggtgcagaggaacagcag	11	8	15	7	1	0	3	0	1	0	2	0	4	0	4	1	2	5	4	1	2	2	1	rs372364253		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:49172005G>A	ENST00000307885.4	-	2	1594	c.900C>T	c.(898-900)aaC>aaT	p.N300N	ADCY6_ENST00000550422.1_Silent_p.N300N|ADCY6_ENST00000357869.3_Silent_p.N300N|ADCY6_ENST00000552090.1_5'Flank	NM_015270.3	NP_056085.1	O43306	ADCY6_HUMAN	adenylate cyclase 6	300					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cAMP biosynthetic process (GO:0006171)|cellular response to catecholamine stimulus (GO:0071870)|cellular response to glucagon stimulus (GO:0071377)|cellular response to prostaglandin E stimulus (GO:0071380)|dopamine receptor signaling pathway (GO:0007212)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|negative regulation of neuron projection development (GO:0010977)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cilium (GO:0005929)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)			breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(16)|prostate(1)|skin(1)|urinary_tract(1)	29						TGCCAATGACGTTGGTGCAGA	0.602																																						ENST00000307885.4																			0				breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(16)|prostate(1)|skin(1)|urinary_tract(1)	29						c.(898-900)aaC>aaT		adenylate cyclase 6			,	1,4405	2.1+/-5.4	0,1,2202	121	90	100		900,900	-8.9	0.2	12		100	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	ADCY6	NM_015270.3,NM_020983.2	,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,	300/1169,300/1116	49172005	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	112				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane	ATP binding|metal ion binding	g.chr12:49172005G>A		CCDS8767.1, CCDS8768.1	12q12-q13	2013-02-04				ENSG00000174233	4.6.1.1	"Adenylate cyclases"	237	protein-coding gene	gene with protein product		600294					Standard	NM_015270		Approved	AC6	uc001rsh.4	O43306		ENST00000307885.4:c.900C>T	12.37:g.49172005G>A						ADCY6_ENST00000550422.1_Silent_p.N300N|ADCY6_ENST00000357869.3_Silent_p.N300N	p.N300N	NM_015270.3	NP_056085.1	O43306	ADCY6_HUMAN			2	1594	-			300					Q9NR75|Q9UDB0	Silent	SNP	ENST00000307885.4	37	c.900C>T	CCDS8767.1																																																																																				0.602	ADCY6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408863.1	NM_020983		15	30	0	0	0	1	0	15	30					A	49172005	G	A	49172005	2	1	435	1	0	0	0	0	0	0	0	1	298	1136	40	1		1	ADCY6	12	49172005	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	6326	49172005	84679890	5669	26594											
DDX23	9416	broad.mit.edu	37	chr12	49226221	49226221	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atacctcttttctgactctgAcatgaggaagaccttctgtt	9	15	7	10	0	4	4	0	3	4	1	4	5	4	5	2	1	1	1	2	1	2	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:49226221A>G	ENST00000308025.3	-	14	2018	c.1939T>C	c.(1939-1941)Tca>Cca	p.S647P		NM_004818.2	NP_004809.2	Q9BUQ8	DDX23_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 23	647					ATP catabolic process (GO:0006200)|cis assembly of pre-catalytic spliceosome (GO:0000354)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|U5 snRNP (GO:0005682)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|poly(A) RNA binding (GO:0044822)			NS(1)|cervix(1)|kidney(4)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(3)	36						TCTGACTCTGACATGAGGAAG	0.557																																						ENST00000308025.3																			0				NS(1)|cervix(1)|kidney(4)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(3)	36						c.(1939-1941)Tca>Cca		DEAD (Asp-Glu-Ala-Asp) box polypeptide 23							90	84	86					12																	49226221		2203	4300	6503	SO:0001583	missense	9416					catalytic step 2 spliceosome|nucleoplasm|U5 snRNP	ATP binding|ATP-dependent RNA helicase activity|nucleic acid binding|protein binding	g.chr12:49226221A>G	AF026402	CCDS8770.1	12q13.11	2013-07-16				ENSG00000174243		"DEAD-boxes"	17347	protein-coding gene	gene with protein product		612172	"PRP28 homolog, yeast"			9409622, 9539711	Standard	NM_004818		Approved	prp28, U5-100K, PRPF28, SNRNP100	uc001rsm.3	Q9BUQ8		ENST00000308025.3:c.1939T>C	12.37:g.49226221A>G	ENSP00000310723:p.Ser647Pro						p.S647P	NM_004818.2	NP_004809.2	Q9BUQ8	DDX23_HUMAN			14	2018	-			647					B2R600|B4DH15|O43188	Missense_Mutation	SNP	ENST00000308025.3	37	c.1939T>C	CCDS8770.1	.	.	.	.	.	.	.	.	.	.	A	12.12	1.843114	0.32606	.	.	ENSG00000174243	ENST00000308025	T	0.04360	3.64	6.17	5.03	0.67393	.	0.199465	0.45361	D	0.000379	T	0.06826	0.0174	L	0.49126	1.545	0.58432	D	0.999999	B	0.14438	0.01	B	0.17722	0.019	T	0.12604	-1.0541	10	0.51188	T	0.08	-7.4829	11.594	0.50962	0.9297:0.0:0.0702:0.0	.	647	Q9BUQ8	DDX23_HUMAN	P	647	ENSP00000310723:S647P	ENSP00000310723:S647P	S	-	1	0	DDX23	47512488	1.000000	0.71417	1.000000	0.80357	0.476000	0.33039	5.619000	0.67729	1.147000	0.42369	-0.290000	0.09829	TCA		0.557	DDX23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408897.2	NM_004818		25	46	0	0	0	1	0	25	46					G	49226221	A	G	49226221	3	3	435	1	0	0	0	0	1	0	0	0	4350	275	10	4	539	4	DDX23	12	49226221	Missense_Mutation	SNP	A	TCGA-XK-AAIW-01A-11D-A41K-08	54216	49226221	84625674	5670	26595											
DDX23	9416	broad.mit.edu	37	chr12	49237828	49237828	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gttctcgttctttgtgccgtCgttctctggaagaccgcaaa	6	14	10	11	4	3	1	0	0	3	1	6	2	3	2	2	1	1	4	2	1	2	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:49237828C>T	ENST00000308025.3	-	3	294	c.215G>A	c.(214-216)cGa>cAa	p.R72Q	DDX23_ENST00000553182.1_5'UTR	NM_004818.2	NP_004809.2	Q9BUQ8	DDX23_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 23	72	Arg-rich.				ATP catabolic process (GO:0006200)|cis assembly of pre-catalytic spliceosome (GO:0000354)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|U5 snRNP (GO:0005682)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|poly(A) RNA binding (GO:0044822)			NS(1)|cervix(1)|kidney(4)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(3)	36						TTTGTGCCGTCGTTCTCTGGA	0.483																																						ENST00000308025.3																			0				NS(1)|cervix(1)|kidney(4)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(3)	36						c.(214-216)cGa>cAa		DEAD (Asp-Glu-Ala-Asp) box polypeptide 23							299	250	266					12																	49237828		2203	4300	6503	SO:0001583	missense	9416					catalytic step 2 spliceosome|nucleoplasm|U5 snRNP	ATP binding|ATP-dependent RNA helicase activity|nucleic acid binding|protein binding	g.chr12:49237828C>T	AF026402	CCDS8770.1	12q13.11	2013-07-16				ENSG00000174243		"DEAD-boxes"	17347	protein-coding gene	gene with protein product		612172	"PRP28 homolog, yeast"			9409622, 9539711	Standard	NM_004818		Approved	prp28, U5-100K, PRPF28, SNRNP100	uc001rsm.3	Q9BUQ8		ENST00000308025.3:c.215G>A	12.37:g.49237828C>T	ENSP00000310723:p.Arg72Gln					DDX23_ENST00000553182.1_5'UTR	p.R72Q	NM_004818.2	NP_004809.2	Q9BUQ8	DDX23_HUMAN			3	294	-			72			Arg-rich.		B2R600|B4DH15|O43188	Missense_Mutation	SNP	ENST00000308025.3	37	c.215G>A	CCDS8770.1	.	.	.	.	.	.	.	.	.	.	C	25.4	4.636559	0.87760	.	.	ENSG00000174243	ENST00000308025;ENST00000552512;ENST00000551468	T	0.21191	2.02	5.35	5.35	0.76521	.	0.075645	0.53938	D	0.000059	T	0.33206	0.0855	L	0.41492	1.28	0.49389	D	0.999786	D	0.58620	0.983	P	0.61201	0.885	T	0.01309	-1.1389	10	0.21014	T	0.42	-0.0488	16.0486	0.80740	0.0:1.0:0.0:0.0	.	72	Q9BUQ8	DDX23_HUMAN	Q	72	ENSP00000310723:R72Q	ENSP00000310723:R72Q	R	-	2	0	DDX23	47524095	1.000000	0.71417	0.993000	0.49108	0.996000	0.88848	5.965000	0.70387	2.522000	0.85027	0.586000	0.80456	CGA		0.483	DDX23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408897.2	NM_004818		56	79	0	0	0	1	0	56	79					T	49237828	C	T	49237828	3	4	435	1	0	0	0	0	1	0	0	0	4350	884	31	2	2307	2	DDX23	12	49237828	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	11607	49237828	84614067	5671	26596											
CCDC65	85478	broad.mit.edu	37	chr12	49314997	49314997	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gaatttctggaaaaggtacaAcaaagtgaaactggagcaac	18	7	10	6	0	1	1	0	1	1	0	1	4	1	3	0	3	5	2	0	3	8	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:49314997A>G	ENST00000320516.4	+	8	1414	c.1226A>G	c.(1225-1227)aAc>aGc	p.N409S	RP11-302B13.5_ENST00000398092.4_Intron|CCDC65_ENST00000266984.5_Missense_Mutation_p.N409S	NM_033124.4	NP_149115.2	Q8IXS2	CCD65_HUMAN	coiled-coil domain containing 65	409										breast(1)|large_intestine(4)|lung(7)|ovary(1)|skin(2)	15						AAAAGGTACAACAAAGTGAAA	0.498																																						ENST00000266984.5																			0				breast(1)|large_intestine(4)|lung(7)|ovary(1)|skin(2)	15						c.(1225-1227)aAc>aGc		coiled-coil domain containing 65							58	53	55					12																	49314997		2203	4300	6503	SO:0001583	missense	85478							g.chr12:49314997A>G		CCDS8772.1	12q13.12	2014-07-18			ENSG00000139537	ENSG00000139537			29937	protein-coding gene	gene with protein product		611088				17089017, 21700706	Standard	NM_033124		Approved	NYD-SP28, FLJ35732, FAP250, CILD27	uc001rso.3	Q8IXS2		ENST00000320516.4:c.1226A>G	12.37:g.49314997A>G	ENSP00000312706:p.Asn409Ser					ARF3_ENST00000398092.4_Intron|CCDC65_ENST00000320516.4_Missense_Mutation_p.N409S	p.N409S			Q8IXS2	CCD65_HUMAN			8	1453	+			409					A6NJG5|B2RBE2|Q8N7G4|Q8NA91|Q96JA0	Missense_Mutation	SNP	ENST00000320516.4	37	c.1226A>G	CCDS8772.1	.	.	.	.	.	.	.	.	.	.	A	23.1	4.371212	0.82573	.	.	ENSG00000139537	ENST00000266984;ENST00000552942;ENST00000320516	T;T;T	0.02472	4.28;4.28;4.28	5.65	5.65	0.86999	.	0.045321	0.85682	D	0.000000	T	0.17534	0.0421	M	0.85630	2.765	0.51233	D	0.999911	D	0.89917	1.0	D	0.85130	0.997	T	0.00327	-1.1814	10	0.48119	T	0.1	-31.2251	15.1644	0.72811	1.0:0.0:0.0:0.0	.	409	Q8IXS2	CCD65_HUMAN	S	409;306;409	ENSP00000266984:N409S;ENSP00000446569:N306S;ENSP00000312706:N409S	ENSP00000266984:N409S	N	+	2	0	CCDC65	47601264	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.925000	0.75829	2.288000	0.76882	0.482000	0.46254	AAC		0.498	CCDC65-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408922.1	NM_033124		4	27	0	0	0	1	0	4	27					G	49314997	A	G	49314997	3	3	435	1	0	0	0	0	1	0	0	0	2837	43	2	4	1256	4	CCDC65	12	49314997	Missense_Mutation	SNP	A	TCGA-XK-AAIW-01A-11D-A41K-08	77169	49314997	84536898	5672	26597											
WNT1	7471	broad.mit.edu	37	chr12	49375049	49375049	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcgccgtgggcgatgtgctgCgcgaccgcttcgacggcgcc	3	6	17	15	9	0	0	0	0	0	0	1	3	0	0	3	2	2	2	3	2	0	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:49375049C>T	ENST00000293549.3	+	4	775	c.739C>T	c.(739-741)Cgc>Tgc	p.R247C		NM_005430.3	NP_005421.1	P04628	WNT1_HUMAN	wingless-type MMTV integration site family, member 1	247					bone development (GO:0060348)|branching involved in ureteric bud morphogenesis (GO:0001658)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|cell fate commitment (GO:0045165)|cell-cell signaling (GO:0007267)|cellular response to peptide hormone stimulus (GO:0071375)|central nervous system morphogenesis (GO:0021551)|cerebellum formation (GO:0021588)|diencephalon development (GO:0021536)|embryonic axis specification (GO:0000578)|forebrain anterior/posterior pattern specification (GO:0021797)|hematopoietic stem cell proliferation (GO:0071425)|hepatocyte differentiation (GO:0070365)|inner ear morphogenesis (GO:0042472)|midbrain development (GO:0030901)|midbrain-hindbrain boundary maturation during brain development (GO:0022004)|myoblast fusion (GO:0007520)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of cell aging (GO:0090344)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000059)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron differentiation (GO:0030182)|neuron fate determination (GO:0048664)|organ regeneration (GO:0031100)|positive regulation of cell proliferation (GO:0008284)|positive regulation of dermatome development (GO:0061184)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of lamellipodium assembly (GO:0010592)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|response to wounding (GO:0009611)|signal transduction in response to DNA damage (GO:0042770)|Spemann organizer formation (GO:0060061)|spinal cord association neuron differentiation (GO:0021527)|T cell differentiation in thymus (GO:0033077)|ubiquitin-dependent SMAD protein catabolic process (GO:0030579)|Wnt signaling pathway (GO:0016055)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	cytokine activity (GO:0005125)|frizzled binding (GO:0005109)|receptor agonist activity (GO:0048018)|transcription regulatory region DNA binding (GO:0044212)			endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)	11				BRCA - Breast invasive adenocarcinoma(357;0.244)		CGATGTGCTGCGCGACCGCTT	0.731																																						ENST00000293549.3																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)	11						c.(739-741)Cgc>Tgc		wingless-type MMTV integration site family, member 1							14	13	13					12																	49375049		2192	4285	6477	SO:0001583	missense	7471				brain segmentation|canonical Wnt receptor signaling pathway involved in negative regulation of apoptosis|central nervous system morphogenesis|cerebellum formation|dermatome development|diencephalon development|embryonic axis specification|forebrain anterior/posterior pattern formation|fourth ventricle development|hemopoietic stem cell proliferation|hepatocyte differentiation|inner ear morphogenesis|mesoderm morphogenesis|midbrain development|midbrain-hindbrain boundary maturation during brain development|negative regulation of cell-cell adhesion|negative regulation of cell-substrate adhesion|negative regulation of DNA damage checkpoint|negative regulation of fat cell differentiation|neuron fate determination|positive regulation of fibroblast proliferation|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of lamellipodium assembly|positive regulation of Notch signaling pathway|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to wounding|signal transduction in response to DNA damage|Spemann organizer formation|T cell differentiation in thymus|Wnt receptor signaling pathway, calcium modulating pathway	early endosome|extracellular space|late endosome|membrane raft|plasma membrane|proteinaceous extracellular matrix	cytokine activity|frizzled-2 binding|transcription regulatory region DNA binding	g.chr12:49375049C>T	X03072	CCDS8776.1	12q13	2013-02-28				ENSG00000125084		"Wingless-type MMTV integration sites", "Endogenous ligands"	12774	protein-coding gene	gene with protein product		164820		INT1		2998762, 3281802	Standard	NM_005430		Approved		uc001rsu.3	P04628	OTTHUMG00000170403	ENST00000293549.3:c.739C>T	12.37:g.49375049C>T	ENSP00000293549:p.Arg247Cys						p.R247C	NM_005430.3	NP_005421.1	P04628	WNT1_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.244)	4	775	+			247					Q5U0N2	Missense_Mutation	SNP	ENST00000293549.3	37	c.739C>T	CCDS8776.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.298588	0.81025	.	.	ENSG00000125084	ENST00000293549;ENST00000380414	T	0.77098	-1.07	4.3	4.3	0.51218	.	0.069237	0.56097	D	0.000023	T	0.81931	0.4927	M	0.68593	2.085	0.51233	D	0.999914	D	0.67145	0.996	P	0.54815	0.761	D	0.84128	0.0410	10	0.87932	D	0	.	11.8305	0.52293	0.1758:0.8242:0.0:0.0	.	247	P04628	WNT1_HUMAN	C	247;83	ENSP00000293549:R247C	ENSP00000293549:R247C	R	+	1	0	WNT1	47661316	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	4.296000	0.59055	2.397000	0.81536	0.561000	0.74099	CGC		0.731	WNT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408937.1			4	4	0	0	0	1	0	4	4					T	49375049	C	T	49375049	3	4	435	1	0	0	0	0	1	0	0	0	17378	768	27	1	753	1	WNT1	12	49375049	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	60052	49375049	84476846	5673	26598											
DDN	23109	broad.mit.edu	37	chr12	49391285	49391285	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggatcgtatcactacgcaCgtggcgtcaatgacaaagac	12	8	11	10	4	2	2	2	1	0	1	3	3	2	3	0	2	1	2	0	2	4	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:49391285C>T	ENST00000421952.2	-	2	1395	c.1374G>A	c.(1372-1374)acG>acA	p.T458T	RP11-386G11.5_ENST00000552284.1_RNA|RP11-386G11.5_ENST00000547395.1_RNA|RP11-386G11.5_ENST00000552933.1_RNA|RP11-386G11.3_ENST00000549516.1_RNA|RP11-386G11.5_ENST00000547866.1_RNA	NM_015086.1	NP_055901.2	O94850	DEND_HUMAN	dendrin	458	Interaction with CD2AP and NPHS1. {ECO:0000250}.					cell projection (GO:0042995)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|stomach(1)	8						TCACTACGCACGTGGCGTCAA	0.642																																						ENST00000421952.2																			0				NS(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|stomach(1)	8						c.(1372-1374)acG>acA		dendrin							66	65	66					12																	49391285		2203	4300	6503	SO:0001819	synonymous_variant	23109					dendritic spine membrane|endoplasmic reticulum membrane|nucleus|perikaryon		g.chr12:49391285C>T	AB018292	CCDS31791.2	12q13	2008-02-05			ENSG00000181418	ENSG00000181418			24458	protein-coding gene	gene with protein product		610588					Standard	NM_015086		Approved	KIAA0749	uc001rsv.1	O94850	OTTHUMG00000156183	ENST00000421952.2:c.1374G>A	12.37:g.49391285C>T							p.T458T	NM_015086.1	NP_055901.2	O94850	DEND_HUMAN			2	1395	-			458			Interaction with CD2AP and NPHS1 (By similarity).			Silent	SNP	ENST00000421952.2	37	c.1374G>A	CCDS31791.2																																																																																				0.642	DDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343335.1			26	33	0	0	0	1	0	26	33					T	49391285	C	T	49391285	2	4	435	1	0	0	0	0	0	0	0	1	4333	523	19	1		1	DDN	12	49391285	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	16236	49391285	84460610	5674	26599											
PRKAG1	5571	broad.mit.edu	37	chr12	49397614	49397614	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gagccacatagacgggggtgGtagtgcgaaccatagcaata	13	6	14	8	2	0	1	0	0	0	1	0	3	0	1	2	3	4	2	2	3	6	4	rs201082529		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:49397614G>A	ENST00000548065.1	-	9	1085	c.629C>T	c.(628-630)aCc>aTc	p.T210I	RP11-386G11.5_ENST00000552284.1_RNA|RP11-386G11.5_ENST00000547395.1_RNA|PRKAG1_ENST00000547306.1_Missense_Mutation_p.T159I|PRKAG1_ENST00000316299.5_Missense_Mutation_p.T219I|PRKAG1_ENST00000395170.3_Missense_Mutation_p.T126I|RP11-386G11.5_ENST00000552933.1_RNA|PRKAG1_ENST00000552212.1_Missense_Mutation_p.T178I|RP11-386G11.5_ENST00000547866.1_RNA			P54619	AAKG1_HUMAN	protein kinase, AMP-activated, gamma 1 non-catalytic subunit	210	CBS 3. {ECO:0000255|PROSITE- ProRule:PRU00703}.				cell cycle arrest (GO:0007050)|fatty acid biosynthetic process (GO:0006633)|insulin receptor signaling pathway (GO:0008286)|membrane organization (GO:0061024)|positive regulation of gene expression (GO:0010628)|positive regulation of protein kinase activity (GO:0045860)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of glycolytic process (GO:0006110)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)	AMP-activated protein kinase complex (GO:0031588)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	ADP binding (GO:0043531)|AMP binding (GO:0016208)|ATP binding (GO:0005524)|cAMP-dependent protein kinase activity (GO:0004691)|cAMP-dependent protein kinase regulator activity (GO:0008603)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)			cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	9					Acetylsalicylic acid(DB00945)	GACGGGGGTGGTAGTGCGAAC	0.522																																						ENST00000548065.1																			0				cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	9						c.(628-630)aCc>aTc		protein kinase, AMP-activated, gamma 1 non-catalytic subunit							150	150	150					12																	49397614		2203	4300	6503	SO:0001583	missense	5571				cell cycle arrest|fatty acid biosynthetic process|insulin receptor signaling pathway|positive regulation of protein kinase activity|regulation of fatty acid oxidation|regulation of glycolysis|spermatogenesis	cytosol	cAMP-dependent protein kinase activity|cAMP-dependent protein kinase regulator activity|protein kinase binding	g.chr12:49397614G>A	U42412	CCDS8777.1, CCDS55824.1, CCDS55825.1	12q12-q14	1998-07-16				ENSG00000181929			9385	protein-coding gene	gene with protein product		602742				8557660, 8621499	Standard	NM_002733		Approved		uc001rsz.3	P54619	OTTHUMG00000170406	ENST00000548065.1:c.629C>T	12.37:g.49397614G>A	ENSP00000447433:p.Thr210Ile					PRKAG1_ENST00000547306.1_Missense_Mutation_p.T159I|PRKAG1_ENST00000316299.5_Missense_Mutation_p.T219I|RP11-386G11.5_ENST00000552284.1_RNA|RP11-386G11.5_ENST00000547395.1_RNA|RP11-386G11.5_ENST00000552933.1_RNA|PRKAG1_ENST00000395170.3_Missense_Mutation_p.T126I|PRKAG1_ENST00000552212.1_Missense_Mutation_p.T178I|RP11-386G11.5_ENST00000547866.1_RNA	p.T210I			P54619	AAKG1_HUMAN			9	1085	-			210			CBS 3.		B4DDT7|Q8N7V9	Missense_Mutation	SNP	ENST00000548065.1	37	c.629C>T	CCDS8777.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.21|12.21	1.870057|1.870057	0.33069|0.33069	.|.	.|.	ENSG00000181929|ENSG00000181929	ENST00000551770;ENST00000551696|ENST00000395170;ENST00000547306;ENST00000316299;ENST00000548065;ENST00000552212;ENST00000548950	D;D|D;D;D;D;D;D	0.88586|0.93953	-1.89;-2.4|-3.32;-3.32;-3.32;-3.32;-3.32;-2.95	4.97|4.97	3.03|3.03	0.35002|0.35002	.|Aldolase-type TIM barrel (1);Cystathionine beta-synthase, core (3);	.|0.277214	.|0.40222	.|N	.|0.001156	D|D	0.92466|0.92466	0.7608|0.7608	M|M	0.80028|0.80028	2.48|2.48	0.36268|0.36268	D|D	0.854988|0.854988	.|B;B	.|0.31040	.|0.305;0.033	.|B;B	.|0.35607	.|0.206;0.101	D|D	0.91568|0.91568	0.5269|0.5269	7|10	0.40728|0.72032	T|D	0.16|0.01	-12.1406|-12.1406	7.6591|7.6591	0.28392|0.28392	0.0:0.2934:0.4232:0.2835|0.0:0.2934:0.4232:0.2835	.|.	.|219;210	.|Q8N7V9;P54619	.|.;AAKG1_HUMAN	S|I	143;117|126;159;219;210;178;126	ENSP00000449121:P143S;ENSP00000447671:P117S|ENSP00000378599:T126I;ENSP00000448873:T159I;ENSP00000323867:T219I;ENSP00000447433:T210I;ENSP00000448972:T178I;ENSP00000450112:T126I	ENSP00000447671:P117S|ENSP00000323867:T219I	P|T	-|-	1|2	0|0	PRKAG1|PRKAG1	47683881|47683881	0.871000|0.871000	0.30034|0.30034	0.861000|0.861000	0.33841|0.33841	0.977000|0.977000	0.68977|0.68977	0.667000|0.667000	0.25112|0.25112	0.611000|0.611000	0.30052|0.30052	0.591000|0.591000	0.81541|0.81541	CCA|ACC		0.522	PRKAG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408946.1	NM_002733		42	69	0	0	0	1	0	42	69					A	49397614	G	A	49397614	3	1	435	1	0	0	0	0	1	0	0	0	12500	1261	44	3	382	3	PRKAG1	12	49397614	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	6329	49397614	84454281	5675	26600											
MLL2	8085	broad.mit.edu	37	chr12	49420343	49420343	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acagggccccttgatcttatGcattggacacagcatggtct	9	11	10	11	0	2	1	0	1	2	0	2	2	2	2	2	3	2	2	2	3	1	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:49420343G>A	ENST00000301067.7	-	48	15405	c.15406C>T	c.(15406-15408)Cat>Tat	p.H5136Y		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	5136					chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)										TTGATCTTATGCATTGGACAC	0.522																																						ENST00000301067.7																			0											c.(15406-15408)Cat>Tat		lysine (K)-specific methyltransferase 2D							86	87	87					12																	49420343		2101	4224	6325	SO:0001583	missense	8085							g.chr12:49420343G>A	AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	7133	protein-coding gene	gene with protein product		602113	"trinucleotide repeat containing 21", "myeloid/lymphoid or mixed-lineage leukemia 2"	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.15406C>T	12.37:g.49420343G>A	ENSP00000301067:p.His5136Tyr						p.H5136Y	NM_003482.3	NP_003473.3					48	15405	-								O14687	Missense_Mutation	SNP	ENST00000301067.7	37	c.15406C>T	CCDS44873.1	.	.	.	.	.	.	.	.	.	.	G	13.60	2.284347	0.40394	.	.	ENSG00000167548	ENST00000301067	D	0.85861	-2.04	4.77	4.77	0.60923	Zinc finger, RING-type (1);Zinc finger, PHD-type (1);	0.000000	0.37809	N	0.001926	D	0.94716	0.8295	H	0.95402	3.665	0.58432	D	0.999999	D	0.89917	1.0	D	0.87578	0.998	D	0.96300	0.9220	10	0.87932	D	0	.	16.9322	0.86193	0.0:0.0:1.0:0.0	.	5136	O14686	MLL2_HUMAN	Y	5136	ENSP00000301067:H5136Y	ENSP00000301067:H5136Y	H	-	1	0	MLL2	47706610	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.377000	0.81083	0.561000	0.74099	CAT		0.522	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2			39	51	0	0	0	1	0	39	51					A	49420343	G	A	49420343	3	1	435	1	0	0	0	0	1	0	0	0	9621	1319	46	3	1235	3	MLL2	12	49420343	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	22729	49420343	84431552	5676	26601											
MLL2	8085	broad.mit.edu	37	chr12	49420496	49420496	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cttggttagcagtcctcggtGcagggcaacctccacattca	8	10	10	13	1	1	0	1	0	0	0	4	0	3	0	3	3	3	4	3	3	2	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:49420496G>A	ENST00000301067.7	-	48	15252	c.15253C>T	c.(15253-15255)Cac>Tac	p.H5085Y		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	5085					chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)										AGTCCTCGGTGCAGGGCAACC	0.597																																						ENST00000301067.7																			0											c.(15253-15255)Cac>Tac		lysine (K)-specific methyltransferase 2D							45	50	48					12																	49420496		2133	4235	6368	SO:0001583	missense	8085							g.chr12:49420496G>A	AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	7133	protein-coding gene	gene with protein product		602113	"trinucleotide repeat containing 21", "myeloid/lymphoid or mixed-lineage leukemia 2"	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.15253C>T	12.37:g.49420496G>A	ENSP00000301067:p.His5085Tyr						p.H5085Y	NM_003482.3	NP_003473.3					48	15252	-								O14687	Missense_Mutation	SNP	ENST00000301067.7	37	c.15253C>T	CCDS44873.1	.	.	.	.	.	.	.	.	.	.	G	13.63	2.296014	0.40594	.	.	ENSG00000167548	ENST00000301067	T	0.70749	-0.51	4.72	4.72	0.59763	.	0.000000	0.38778	N	0.001576	T	0.66066	0.2752	N	0.12961	0.28	0.45378	D	0.998365	P	0.48911	0.917	P	0.51324	0.666	T	0.73388	-0.3998	10	0.87932	D	0	.	16.8307	0.85943	0.0:0.0:1.0:0.0	.	5085	O14686	MLL2_HUMAN	Y	5085	ENSP00000301067:H5085Y	ENSP00000301067:H5085Y	H	-	1	0	MLL2	47706763	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.869000	0.99810	2.344000	0.79699	0.655000	0.94253	CAC		0.597	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2			19	15	0	0	0	1	0	19	15					A	49420496	G	A	49420496	3	1	435	1	0	0	0	0	1	0	0	0	9621	1319	46	3	1388	3	MLL2	12	49420496	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	153	49420496	84431399	5677	26602											
MLL2	8085	broad.mit.edu	37	chr12	49435269	49435269	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gggccggtcggtcagtcttaCgggctatgtcgcccaccttg	4	10	14	13	4	2	0	1	0	1	0	4	0	2	0	3	4	1	1	3	4	2	3	rs374216845		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:49435269C>T	ENST00000301067.7	-	31	6283	c.6284G>A	c.(6283-6285)cGt>cAt	p.R2095H		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	2095					chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)										GTCAGTCTTACGGGCTATGTC	0.662																																						ENST00000301067.7																			0											c.(6283-6285)cGt>cAt		lysine (K)-specific methyltransferase 2D		C	HIS/ARG	0,4112		0,0,2056	58	65	63		6284	4.1	1	12		63	1,8391		0,1,4195	no	missense	MLL2	NM_003482.3	29	0,1,6251	TT,TC,CC		0.0119,0.0,0.0080	probably-damaging	2095/5538	49435269	1,12503	2056	4196	6252	SO:0001583	missense	8085							g.chr12:49435269C>T	AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	7133	protein-coding gene	gene with protein product		602113	"trinucleotide repeat containing 21", "myeloid/lymphoid or mixed-lineage leukemia 2"	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.6284G>A	12.37:g.49435269C>T	ENSP00000301067:p.Arg2095His						p.R2095H	NM_003482.3	NP_003473.3					31	6283	-								O14687	Missense_Mutation	SNP	ENST00000301067.7	37	c.6284G>A	CCDS44873.1	.	.	.	.	.	.	.	.	.	.	C	13.33	2.203688	0.38905	0.0	1.19E-4	ENSG00000167548	ENST00000301067	T	0.80393	-1.37	4.14	4.14	0.48551	.	0.000000	0.32719	N	0.005721	T	0.81621	0.4861	N	0.14661	0.345	0.48135	D	0.999599	D	0.89917	1.0	D	0.85130	0.997	D	0.85204	0.1017	10	0.87932	D	0	.	16.3809	0.83461	0.0:1.0:0.0:0.0	.	2095	O14686	MLL2_HUMAN	H	2095	ENSP00000301067:R2095H	ENSP00000301067:R2095H	R	-	2	0	MLL2	47721536	1.000000	0.71417	0.987000	0.45799	0.979000	0.70002	7.049000	0.76613	2.599000	0.87857	0.561000	0.74099	CGT		0.662	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2			23	41	0	0	0	1	0	23	41					T	49435269	C	T	49435269	3	4	435	1	0	0	0	0	1	0	0	0	9621	536	19	1	10425	1	MLL2	12	49435269	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	14773	49435269	84416626	5678	26603											
MLL2	8085	broad.mit.edu	37	chr12	49445673	49445673	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttcaaatggtgggaacagaCgagatgcctccggtggtgga	10	8	15	8	2	1	2	1	0	0	2	2	5	2	4	2	5	2	0	2	5	2	1	rs377761041		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:49445673C>T	ENST00000301067.7	-	10	1792	c.1793G>A	c.(1792-1794)cGt>cAt	p.R598H		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	598	15 X 5 AA repeats of S/P-P-P-E/P-E/A.|Pro-rich.				chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)										TGGGAACAGACGAGATGCCTC	0.612																																						ENST00000301067.7																			0											c.(1792-1794)cGt>cAt		lysine (K)-specific methyltransferase 2D		C	HIS/ARG	0,4270		0,0,2135	97	100	99		1793	2.1	0	12		99	2,8456		0,2,4227	no	missense	MLL2	NM_003482.3	29	0,2,6362	TT,TC,CC		0.0236,0.0,0.0157	possibly-damaging	598/5538	49445673	2,12726	2135	4229	6364	SO:0001583	missense	8085							g.chr12:49445673C>T	AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	7133	protein-coding gene	gene with protein product		602113	"trinucleotide repeat containing 21", "myeloid/lymphoid or mixed-lineage leukemia 2"	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.1793G>A	12.37:g.49445673C>T	ENSP00000301067:p.Arg598His						p.R598H	NM_003482.3	NP_003473.3					10	1792	-								O14687	Missense_Mutation	SNP	ENST00000301067.7	37	c.1793G>A	CCDS44873.1	.	.	.	.	.	.	.	.	.	.	C	5.766	0.325685	0.10900	0.0	2.36E-4	ENSG00000167548	ENST00000301067	T	0.79247	-1.25	3.99	2.07	0.26955	.	.	.	.	.	T	0.53238	0.1784	N	0.08118	0	0.09310	N	1	P	0.44006	0.824	B	0.28385	0.089	T	0.45308	-0.9270	9	0.87932	D	0	.	11.8012	0.52128	0.0:0.471:0.529:0.0	.	598	O14686	MLL2_HUMAN	H	598	ENSP00000301067:R598H	ENSP00000301067:R598H	R	-	2	0	MLL2	47731940	0.002000	0.14202	0.011000	0.14972	0.784000	0.44337	0.287000	0.18920	0.597000	0.29811	0.313000	0.20887	CGT		0.612	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2			19	24	0	0	0	1	0	19	24					T	49445673	C	T	49445673	3	4	435	1	0	0	0	0	1	0	0	0	9621	536	19	1	15000	1	MLL2	12	49445673	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	10404	49445673	84406222	5679	26604											
DHH	50846	broad.mit.edu	37	chr12	49483682	49483682	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctaagcggtagaggagccgaGagtaccaatgcatgccagtc	12	6	13	10	2	0	2	0	0	0	2	1	4	0	3	3	2	5	3	3	2	4	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:49483682G>A	ENST00000266991.2	-	3	1457	c.1151C>T	c.(1150-1152)tCt>tTt	p.S384F	RP11-386G11.8_ENST00000548030.1_RNA|RP11-386G11.8_ENST00000553174.1_RNA	NM_021044.2	NP_066382.1	O43323	DHH_HUMAN	desert hedgehog	384					cell-cell signaling (GO:0007267)|Leydig cell differentiation (GO:0033327)|male sex determination (GO:0030238)|myelination (GO:0042552)|regulation of steroid biosynthetic process (GO:0050810)|response to estradiol (GO:0032355)|spermatid development (GO:0007286)	extracellular region (GO:0005576)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|peptidase activity (GO:0008233)|zinc ion binding (GO:0008270)			breast(1)|large_intestine(3)|lung(4)	8						GAGGAGCCGAGAGTACCAATG	0.662																																						ENST00000266991.2																			0				breast(1)|large_intestine(3)|lung(4)	8						c.(1150-1152)tCt>tTt		desert hedgehog							10	12	11					12																	49483682		2198	4294	6492	SO:0001583	missense	50846				cell-cell signaling|proteolysis	extracellular space|plasma membrane	calcium ion binding|peptidase activity|zinc ion binding	g.chr12:49483682G>A	AB010994	CCDS8779.1	12q13.1	2010-06-24	2010-06-24			ENSG00000139549			2865	protein-coding gene	gene with protein product		605423	"desert hedgehog (Drosophila) homolog"			10773676, 10640830	Standard	NM_021044		Approved	HHG-3, MGC35145	uc001rtf.3	O43323	OTTHUMG00000170408	ENST00000266991.2:c.1151C>T	12.37:g.49483682G>A	ENSP00000266991:p.Ser384Phe						p.S384F	NM_021044.2	NP_066382.1	O43323	DHH_HUMAN			3	1457	-			384					Q15794	Missense_Mutation	SNP	ENST00000266991.2	37	c.1151C>T	CCDS8779.1	.	.	.	.	.	.	.	.	.	.	g	20.4	3.983196	0.74474	.	.	ENSG00000139549	ENST00000266991	D	0.99445	-5.91	4.77	4.77	0.60923	Peptidase C46, hedgehog protein, hint region (1);	0.200343	0.42420	D	0.000710	D	0.99296	0.9754	M	0.75447	2.3	0.38991	D	0.959143	D	0.65815	0.995	D	0.63192	0.912	D	0.98850	1.0758	10	0.87932	D	0	-15.8194	12.9064	0.58154	0.0:0.1639:0.8361:0.0	.	384	O43323	DHH_HUMAN	F	384	ENSP00000266991:S384F	ENSP00000266991:S384F	S	-	2	0	DHH	47769949	1.000000	0.71417	0.997000	0.53966	0.993000	0.82548	6.167000	0.71902	2.654000	0.90174	0.556000	0.70494	TCT		0.662	DHH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408973.1	NM_021044		3	0	0	0	0	1	0	3	0					A	49483682	G	A	49483682	3	1	435	1	0	0	0	0	1	0	0	0	4483	942	33	3	43	3	DHH	12	49483682	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	38009	49483682	84368213	5680	26605											
TROAP	10024	broad.mit.edu	37	chr12	49721017	49721017	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctcttcctaaaggagaacgCgaggttgtcactcactcaga	11	10	9	11	2	4	2	3	0	1	2	6	4	5	2	1	2	1	1	1	2	3	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:49721017C>T	ENST00000257909.3	+	8	871	c.795C>T	c.(793-795)cgC>cgT	p.R265R	TROAP_ENST00000547923.1_5'UTR|TROAP_ENST00000551245.1_Silent_p.R265R|RP11-161H23.9_ENST00000553259.1_RNA	NM_005480.3	NP_005471.3	Q12815	TROAP_HUMAN	trophinin associated protein	265					cell adhesion (GO:0007155)	cytoplasm (GO:0005737)				breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	32						AAGGAGAACGCGAGGTTGTCA	0.478																																						ENST00000551245.1																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	32						c.(793-795)cgC>cgT		trophinin associated protein							130	117	121					12																	49721017		2203	4300	6503	SO:0001819	synonymous_variant	10024				cell adhesion	cytoplasm		g.chr12:49721017C>T	U04810	CCDS8784.1, CCDS41779.1, CCDS61117.1	12q13.12	2012-10-17	2012-10-17		ENSG00000135451	ENSG00000135451			12327	protein-coding gene	gene with protein product	"tastin"	603872				7758945	Standard	NM_005480		Approved	TASTIN	uc001rtx.4	Q12815	OTTHUMG00000169486	ENST00000257909.3:c.795C>T	12.37:g.49721017C>T						TROAP_ENST00000547923.1_5'UTR|TROAP_ENST00000257909.3_Silent_p.R265R	p.R265R			Q12815	TROAP_HUMAN			8	906	+			265					F8VSF9|Q6PJU7|Q8N5B2	Silent	SNP	ENST00000257909.3	37	c.795C>T	CCDS8784.1																																																																																				0.478	TROAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000404300.1	NM_005480		28	43	0	0	0	1	0	28	43					T	49721017	C	T	49721017	2	4	435	1	0	0	0	0	0	0	0	1	16572	755	27	1		1	TROAP	12	49721017	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	237335	49721017	84130878	5681	26606											
FAM186B	84070	broad.mit.edu	37	chr12	49993361	49993361	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctccagtgctttgctgcgcaGgtagtggggcagcctcaact	6	10	13	12	1	1	0	1	0	0	0	2	0	2	0	2	3	5	5	2	3	2	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:49993361G>T	ENST00000257894.2	-	4	2223	c.2062C>A	c.(2062-2064)Ctg>Atg	p.L688M	FAM186B_ENST00000551047.1_Intron|FAM186B_ENST00000544141.1_Missense_Mutation_p.L598M	NM_032130.2	NP_115506.1	Q8IYM0	F186B_HUMAN	family with sequence similarity 186, member B	688						protein complex (GO:0043234)				breast(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						TTGCTGCGCAGGTAGTGGGGC	0.552																																						ENST00000544141.1																			0				breast(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(1792-1794)Ctg>Atg		family with sequence similarity 186, member B							71	58	63					12																	49993361		2203	4300	6503	SO:0001583	missense	84070					protein complex		g.chr12:49993361G>T	AL136748	CCDS8788.1	12q13.12	2008-09-17	2008-09-17	2008-09-17	ENSG00000135436	ENSG00000135436			25296	protein-coding gene	gene with protein product			"chromosome 12 open reading frame 25"	C12orf25		11230166	Standard	NM_032130		Approved	DKFZP434J0113	uc001ruo.3	Q8IYM0	OTTHUMG00000167427	ENST00000257894.2:c.2062C>A	12.37:g.49993361G>T	ENSP00000257894:p.Leu688Met					FAM186B_ENST00000257894.2_Missense_Mutation_p.L688M|FAM186B_ENST00000551047.1_Intron	p.L598M			Q8IYM0	F186B_HUMAN			4	2391	-			688					B4DZ15|Q8TCP7|Q9H0L3	Missense_Mutation	SNP	ENST00000257894.2	37	c.1792C>A	CCDS8788.1	.	.	.	.	.	.	.	.	.	.	G	13.60	2.286254	0.40494	.	.	ENSG00000135436	ENST00000544141;ENST00000532262;ENST00000257894	T;T;T	0.52754	0.65;0.65;0.65	5.1	4.2	0.49525	.	0.208574	0.24236	N	0.040311	T	0.65048	0.2654	M	0.75447	2.3	0.25906	N	0.983291	D;D	0.89917	1.0;1.0	D;D	0.79108	0.992;0.992	T	0.57723	-0.7762	9	.	.	.	-9.034	9.7438	0.40435	0.0969:0.0:0.9031:0.0	.	598;688	B4DZ15;Q8IYM0	.;F186B_HUMAN	M	598;301;688	ENSP00000438569:L598M;ENSP00000436995:L301M;ENSP00000257894:L688M	.	L	-	1	2	FAM186B	48279628	0.994000	0.37717	0.264000	0.24511	0.163000	0.22366	2.291000	0.43540	1.276000	0.44395	0.650000	0.86243	CTG		0.552	FAM186B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394583.2	NM_032130		10	36	1	0	7.48243e-07	1	7.8103e-07	10	36					T	49993361	G	T	49993361	3	4	435	1	0	0	0	0	1	0	0	0	5512	991	35	5	635	5	FAM186B	12	49993361	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	272344	49993361	83858534	5682	26607											
PRPF40B	25766	broad.mit.edu	37	chr12	50037897	50037897	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caacagacaggctgggacacGtcagaaagtgagctgagtga	14	5	14	8	1	1	5	1	3	0	2	1	6	1	6	0	2	2	2	0	2	2	0	rs370989934		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:50037897G>A	ENST00000380281.1	+	25	2602	c.2538G>A	c.(2536-2538)acG>acA	p.T846T	PRPF40B_ENST00000548825.2_Silent_p.T867T|PRPF40B_ENST00000261897.1_Silent_p.T833T|FMNL3_ENST00000335154.5_3'UTR			Q6NWY9	PR40B_HUMAN	PRP40 pre-mRNA processing factor 40 homolog B (S. cerevisiae)	846					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	34						GCTGGGACACGTCAGAAAGTG	0.597											OREG0021798	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000261897.1																			0				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	34						c.(2497-2499)acG>acA		PRP40 pre-mRNA processing factor 40 homolog B (S. cerevisiae)		G	,,,	0,4406		0,0,2203	139	113	122		2538,2499,,	-4.8	0.5	12		122	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,utr-3,utr-3	PRPF40B,FMNL3	NM_001031698.1,NM_012272.1,NM_175736.4,NM_198900.2	,,,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,,,	846/872,833/859,,	50037897	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	25766				mRNA processing|RNA splicing	nuclear speck		g.chr12:50037897G>A	AF049525	CCDS31796.1, CCDS31796.2	12q13.12	2014-09-17	2006-04-04			ENSG00000110844			25031	protein-coding gene	gene with protein product	"Huntingtin interacting protein C"		"PRP40 pre-mRNA processing factor 40 homolog B (yeast)"			9700202	Standard	NM_001031698		Approved	HYPC	uc001rus.2	Q6NWY9		ENST00000380281.1:c.2538G>A	12.37:g.50037897G>A			OREG0021798	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	966	PRPF40B_ENST00000380281.1_Silent_p.T846T|PRPF40B_ENST00000548825.2_Silent_p.T867T|FMNL3_ENST00000335154.5_3'UTR	p.T833T			Q6NWY9	PR40B_HUMAN			25	3050	+			846					O75401|Q6PI09|Q6ZWB3|Q8NCZ1|Q9H5G4|Q9NT95	Silent	SNP	ENST00000380281.1	37	c.2499G>A																																																																																					0.597	PRPF40B-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000404838.1	NM_012272		10	21	0	0	0	1	0	10	21					A	50037897	G	A	50037897	2	1	435	1	0	0	0	0	0	0	0	1	12572	1132	40	1		1	PRPF40B	12	50037897	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	44536	50037897	83813998	5683	26608											
FMNL3	91010	broad.mit.edu	37	chr12	50045745	50045745	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ggggaggtggagggggcaagGgcggagctggtggtggagga	7	4	27	3	1	0	0	0	0	0	0	0	5	0	5	0	12	1	2	0	12	1	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:50045745G>A	ENST00000293590.5	-	14	1807	c.1574C>T	c.(1573-1575)cCc>cTc	p.P525L	FMNL3_ENST00000335154.5_Missense_Mutation_p.P525L|FMNL3_ENST00000550488.1_Missense_Mutation_p.P525L|FMNL3_ENST00000352151.5_Missense_Mutation_p.P474L			Q8IVF7	FMNL3_HUMAN	formin-like 3	525	Pro-rich.				actin cytoskeleton organization (GO:0030036)|cell migration (GO:0016477)|cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)	GTPase activating protein binding (GO:0032794)			breast(4)|endometrium(7)|kidney(2)|large_intestine(6)|lung(11)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|stomach(1)	39						AGGGGGCAAGGGCGGAGCTGG	0.647																																						ENST00000335154.5																			0				breast(4)|endometrium(7)|kidney(2)|large_intestine(6)|lung(11)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|stomach(1)	39						c.(1573-1575)cCc>cTc		formin-like 3							15	18	17					12																	50045745		1955	4126	6081	SO:0001583	missense	91010				actin cytoskeleton organization		actin binding|Rho GTPase binding	g.chr12:50045745G>A	AK128195	CCDS41780.1, CCDS44874.1	12q13.12	2006-04-10							23698	protein-coding gene	gene with protein product						12684686	Standard	NM_198900		Approved	DKFZp762B245, MGC45819, WBP3	uc001ruv.1	Q8IVF7	OTTHUMG00000169651	ENST00000293590.5:c.1574C>T	12.37:g.50045745G>A	ENSP00000293590:p.Pro525Leu					FMNL3_ENST00000550488.1_Missense_Mutation_p.P525L|FMNL3_ENST00000352151.5_Missense_Mutation_p.P474L|FMNL3_ENST00000293590.5_Missense_Mutation_p.P525L	p.P525L	NM_175736.4	NP_783863.4	Q8IVF7	FMNL3_HUMAN			14	1807	-			525			Pro-rich.		B0JZA7|Q6ZRJ1	Missense_Mutation	SNP	ENST00000293590.5	37	c.1574C>T		.	.	.	.	.	.	.	.	.	.	G	16.62	3.174168	0.57692	.	.	ENSG00000161791	ENST00000335154;ENST00000550488;ENST00000352151;ENST00000293590	D;D;D;D	0.84944	-1.92;-1.92;-1.92;-1.92	5.18	5.18	0.71444	.	0.117637	0.64402	N	0.000020	D	0.82870	0.5131	L	0.48642	1.525	0.80722	D	1	P;P;P	0.46064	0.872;0.872;0.798	B;B;B	0.41813	0.278;0.367;0.144	D	0.84525	0.0630	10	0.51188	T	0.08	.	17.8417	0.88717	0.0:0.0:1.0:0.0	.	474;525;525	Q8IVF7-2;Q8IVF7-3;Q8IVF7	.;.;FMNL3_HUMAN	L	525;525;474;525	ENSP00000335655:P525L;ENSP00000447479:P525L;ENSP00000344311:P474L;ENSP00000293590:P525L	ENSP00000293590:P525L	P	-	2	0	FMNL3	48332012	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	6.817000	0.75252	2.586000	0.87340	0.561000	0.74099	CCC		0.647	FMNL3-201	KNOWN	basic	protein_coding	protein_coding		NM_175736		4	13	0	0	0	1	0	4	13					A	50045745	G	A	50045745	3	1	435	1	0	0	0	0	1	0	0	0	5953	1232	43	3	1561	3	FMNL3	12	50045745	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	7848	50045745	83806150	5684	26609											
NCKAP5L	57701	broad.mit.edu	37	chr12	50190190	50190190	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actgttccgacaggggattcGcgagttccgggggagctggg	6	8	18	9	4	0	0	0	0	0	0	3	4	2	2	2	5	1	3	2	5	0	3	rs372725560		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:50190190G>A	ENST00000335999.6	-	8	1654	c.1453C>T	c.(1453-1455)Cga>Tga	p.R485*		NM_001037806.3	NP_001032895.2	Q9HCH0	NCK5L_HUMAN	NCK-associated protein 5-like	481	Pro-rich.									central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(8)|prostate(2)	18						CAGGGGATTCGCGAGTTCCGG	0.662																																						ENST00000335999.6																			0				central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(8)|prostate(2)	18						c.(1453-1455)Cga>Tga		NCK-associated protein 5-like		G	stop/ARG	1,3851		0,1,1925	12	14	13		1453	2.6	0.8	12		13	0,8272		0,0,4136	no	stop-gained	NCKAP5L	NM_001037806.3		0,1,6061	AA,AG,GG		0.0,0.026,0.0082		485/1335	50190190	1,12123	1926	4136	6062	SO:0001587	stop_gained	57701							g.chr12:50190190G>A	AB046822	CCDS41781.2	12q13.12	2009-08-14	2009-08-14	2009-08-14	ENSG00000167566	ENSG00000167566			29321	protein-coding gene	gene with protein product		615104	"KIAA1602"	KIAA1602			Standard	NM_001037806		Approved		uc009zlk.2	Q9HCH0	OTTHUMG00000156969	ENST00000335999.6:c.1453C>T	12.37:g.50190190G>A	ENSP00000337998:p.Arg485*						p.R485*	NM_001037806.3	NP_001032895.2	Q9HCH0	NCK5L_HUMAN			8	1654	-			481			Pro-rich.		Q2TB26|Q71RH1|Q8N4W1|Q96HX2	Nonsense_Mutation	SNP	ENST00000335999.6	37	c.1453C>T	CCDS41781.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	36|36	5.863428|5.863428	0.97043|0.97043	2.6E-4|2.6E-4	0.0|0.0	ENSG00000167566|ENSG00000167566	ENST00000433948|ENST00000335999;ENST00000354423	.|.	.|.	.|.	4.54|4.54	2.62|2.62	0.31277|0.31277	.|.	.|0.689961	.|0.11977	.|N	.|0.511127	T|.	0.16514|.	0.0397|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.29761|.	-1.0001|.	3|.	.|0.05959	.|T	.|0.93	-0.1672|-0.1672	5.6619|5.6619	0.17674|0.17674	0.0951:0.0:0.4197:0.4852|0.0951:0.0:0.4197:0.4852	.|.	.|.	.|.	.|.	V|X	199|485;481	.|.	.|ENSP00000337998:R485X	A|R	-|-	2|1	0|2	NCKAP5L|NCKAP5L	48476457|48476457	0.706000|0.706000	0.27856|0.27856	0.816000|0.816000	0.32577|0.32577	0.697000|0.697000	0.40408|0.40408	0.795000|0.795000	0.26972|0.26972	1.012000|1.012000	0.39366|0.39366	0.561000|0.561000	0.74099|0.74099	GCG|CGA		0.662	NCKAP5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346884.2	XM_035497		5	7	0	0	0	1	0	5	7					A	50190190	G	A	50190190	4	1	435	1	0	0	0	0	0	1	0	0	10224	1095	38	1	2575	1	NCKAP5L	12	50190190	Nonsense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	144445	50190190	83661705	5685	26610											
NCKAP5L	57701	broad.mit.edu	37	chr12	50190921	50190921	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcctagcagcaggcagggcGcccagggtgagggttcaggc	7	4	19	11	1	1	1	1	1	0	0	1	1	1	1	2	6	2	4	2	6	1	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:50190921G>A	ENST00000335999.6	-	8	923	c.722C>T	c.(721-723)gCg>gTg	p.A241V		NM_001037806.3	NP_001032895.2	Q9HCH0	NCK5L_HUMAN	NCK-associated protein 5-like	237	Pro-rich.									central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(8)|prostate(2)	18						CAGGCAGGGCGCCCAGGGTGA	0.731																																						ENST00000335999.6																			0				central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(8)|prostate(2)	18						c.(721-723)gCg>gTg		NCK-associated protein 5-like							10	12	11					12																	50190921		1922	4098	6020	SO:0001583	missense	57701							g.chr12:50190921G>A	AB046822	CCDS41781.2	12q13.12	2009-08-14	2009-08-14	2009-08-14	ENSG00000167566	ENSG00000167566			29321	protein-coding gene	gene with protein product		615104	"KIAA1602"	KIAA1602			Standard	NM_001037806		Approved		uc009zlk.2	Q9HCH0	OTTHUMG00000156969	ENST00000335999.6:c.722C>T	12.37:g.50190921G>A	ENSP00000337998:p.Ala241Val						p.A241V	NM_001037806.3	NP_001032895.2	Q9HCH0	NCK5L_HUMAN			8	923	-			237			Pro-rich.		Q2TB26|Q71RH1|Q8N4W1|Q96HX2	Missense_Mutation	SNP	ENST00000335999.6	37	c.722C>T	CCDS41781.2	.	.	.	.	.	.	.	.	.	.	G	17.50	3.406064	0.62288	.	.	ENSG00000167566	ENST00000335999;ENST00000354423	T	0.56776	0.44	4.28	2.32	0.28847	.	.	.	.	.	T	0.33147	0.0853	N	0.19112	0.55	0.28105	N	0.931242	P	0.51240	0.943	B	0.41860	0.368	T	0.11494	-1.0585	9	0.14656	T	0.56	-7.5195	8.716	0.34411	0.0:0.1649:0.6646:0.1705	.	237	E2QRB5	.	V	241;237	ENSP00000337998:A241V	ENSP00000337998:A241V	A	-	2	0	NCKAP5L	48477188	0.998000	0.40836	0.941000	0.38009	0.462000	0.32619	4.786000	0.62425	0.328000	0.23435	0.462000	0.41574	GCG		0.731	NCKAP5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346884.2	XM_035497		4	10	0	0	0	1	0	4	10					A	50190921	G	A	50190921	3	1	435	1	0	0	0	0	1	0	0	0	10224	1087	38	1	3306	1	NCKAP5L	12	50190921	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	731	50190921	83660974	5686	26611											
NCKAP5L	57701	broad.mit.edu	37	chr12	50196894	50196894	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acagacctcgtccagacagcGctcataagtctcccgctggt	9	8	9	15	3	2	2	1	0	1	2	5	2	3	2	3	1	1	2	3	1	1	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:50196894G>A	ENST00000335999.6	-	4	379	c.178C>T	c.(178-180)Cgc>Tgc	p.R60C	NCKAP5L_ENST00000480927.1_5'Flank	NM_001037806.3	NP_001032895.2	Q9HCH0	NCK5L_HUMAN	NCK-associated protein 5-like	56								p.R60C(1)		central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(8)|prostate(2)	18						TCCAGACAGCGCTCATAAGTC	0.607																																						ENST00000335999.6																			1	Substitution - Missense(1)	p.R60C(1)	central_nervous_system(1)	central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(8)|prostate(2)	18						c.(178-180)Cgc>Tgc		NCK-associated protein 5-like							78	87	84					12																	50196894		2030	4169	6199	SO:0001583	missense	57701							g.chr12:50196894G>A	AB046822	CCDS41781.2	12q13.12	2009-08-14	2009-08-14	2009-08-14	ENSG00000167566	ENSG00000167566			29321	protein-coding gene	gene with protein product		615104	"KIAA1602"	KIAA1602			Standard	NM_001037806		Approved		uc009zlk.2	Q9HCH0	OTTHUMG00000156969	ENST00000335999.6:c.178C>T	12.37:g.50196894G>A	ENSP00000337998:p.Arg60Cys						p.R60C	NM_001037806.3	NP_001032895.2	Q9HCH0	NCK5L_HUMAN			4	379	-			56					Q2TB26|Q71RH1|Q8N4W1|Q96HX2	Missense_Mutation	SNP	ENST00000335999.6	37	c.178C>T	CCDS41781.2	.	.	.	.	.	.	.	.	.	.	G	27.6	4.848630	0.91277	.	.	ENSG00000167566	ENST00000335999;ENST00000354423	T	0.60424	0.19	6.17	6.17	0.99709	.	.	.	.	.	T	0.72795	0.3505	L	0.47190	1.495	0.58432	D	0.999993	D	0.89917	1.0	D	0.85130	0.997	T	0.72364	-0.4316	9	0.87932	D	0	-8.8996	19.6509	0.95805	0.0:0.0:1.0:0.0	.	56	E2QRB5	.	C	60;56	ENSP00000337998:R60C	ENSP00000337998:R60C	R	-	1	0	NCKAP5L	48483161	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	3.198000	0.51035	2.941000	0.99782	0.655000	0.94253	CGC		0.607	NCKAP5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346884.2	XM_035497		7	41	0	0	0	1	0	7	41					A	50196894	G	A	50196894	3	1	435	1	0	0	0	0	1	0	0	0	10224	1087	38	1	3866	1	NCKAP5L	12	50196894	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	5973	50196894	83655001	5687	26612											
AQP2	359	broad.mit.edu	37	chr12	50349238	50349238	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggctccctcctctacaactaCgtgctgtttccgccagccaa	7	10	7	17	2	1	0	0	0	1	0	4	0	4	0	5	1	5	3	5	1	4	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:50349238C>T	ENST00000199280.3	+	4	748	c.663C>T	c.(661-663)taC>taT	p.Y221Y	RP11-469H8.6_ENST00000550530.1_RNA|RP11-469H8.6_ENST00000552379.1_RNA|RP11-469H8.8_ENST00000552806.1_RNA	NM_000486.5	NP_000477.1	P41181	AQP2_HUMAN	aquaporin 2 (collecting duct)	221					actin filament depolymerization (GO:0030042)|aging (GO:0007568)|apoptotic process (GO:0006915)|cell volume homeostasis (GO:0006884)|cellular response to copper ion (GO:0071280)|cellular response to mercury ion (GO:0071288)|cellular response to water deprivation (GO:0042631)|excretion (GO:0007588)|female pregnancy (GO:0007565)|glycerol transport (GO:0015793)|hyperosmotic response (GO:0006972)|metanephric collecting duct development (GO:0072205)|positive regulation of calcium ion transport (GO:0051928)|renal water transport (GO:0003097)|response to calcium ion (GO:0051592)|response to glucagon (GO:0033762)|response to lipopolysaccharide (GO:0032496)|response to lithium ion (GO:0010226)|response to salt stress (GO:0009651)|response to starvation (GO:0042594)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|clathrin-coated vesicle (GO:0030136)|early endosome (GO:0005769)|exocytic vesicle (GO:0070382)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|recycling endosome (GO:0055037)|rough endoplasmic reticulum (GO:0005791)|trans-Golgi network (GO:0005802)|transport vesicle membrane (GO:0030658)	glycerol transmembrane transporter activity (GO:0015168)|water channel activity (GO:0015250)|water transmembrane transporter activity (GO:0005372)			breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(4)|ovary(2)	10						TCTACAACTACGTGCTGTTTC	0.706																																						ENST00000199280.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(4)|ovary(2)	10						c.(661-663)taC>taT		aquaporin 2 (collecting duct)							23	25	24					12																	50349238		2199	4298	6497	SO:0001819	synonymous_variant	359				cellular response to copper ion|cellular response to mercury ion|excretion	apical plasma membrane|integral to membrane|transport vesicle membrane	glycerol transmembrane transporter activity|water channel activity	g.chr12:50349238C>T		CCDS8792.1	12q12-q13	2014-09-17				ENSG00000167580		"Ion channels / Aquaporins"	634	protein-coding gene	gene with protein product		107777				7512890	Standard	NM_000486		Approved		uc001rvn.3	P41181		ENST00000199280.3:c.663C>T	12.37:g.50349238C>T						RP11-469H8.6_ENST00000552379.1_RNA|RP11-469H8.8_ENST00000552806.1_RNA|RP11-469H8.6_ENST00000550530.1_RNA	p.Y221Y	NM_000486.5	NP_000477.1	P41181	AQP2_HUMAN			4	748	+			221					Q9UD68	Silent	SNP	ENST00000199280.3	37	c.663C>T	CCDS8792.1																																																																																				0.706	AQP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405540.1	NM_000486		10	20	0	0	0	1	0	10	20					T	50349238	C	T	50349238	2	4	435	1	0	0	0	0	0	0	0	1	826	547	19	1		1	AQP2	12	50349238	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	152344	50349238	83502657	5688	26613											
SMARCD1	6602	broad.mit.edu	37	chr12	50483696	50483696	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	accgccactacccaggagacCgatggctttcaggtgaagcg	10	6	12	13	3	1	2	1	1	0	1	1	4	1	2	4	3	2	1	4	3	2	2	rs373391634		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:50483696C>T	ENST00000394963.4	+	7	1199	c.801C>T	c.(799-801)acC>acT	p.T267T	SMARCD1_ENST00000548573.1_Silent_p.T65T|SMARCD1_ENST00000381513.4_Silent_p.T267T	NM_003076.4	NP_003067.3			SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 1											NS(1)|breast(2)|endometrium(2)|large_intestine(6)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	18						CCCAGGAGACCGATGGCTTTC	0.577																																						ENST00000394963.4																			0				NS(1)|breast(2)|endometrium(2)|large_intestine(6)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	18						c.(799-801)acC>acT		SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 1		C	,	1,4405	2.1+/-5.4	0,1,2202	169	149	156		801,801	-10.6	0.1	12		156	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	SMARCD1	NM_003076.4,NM_139071.2	,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,	267/516,267/475	50483696	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	6602				chromatin-mediated maintenance of transcription|nervous system development|regulation of transcription from RNA polymerase II promoter	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex	protein complex scaffold|transcription coactivator activity	g.chr12:50483696C>T	U66617	CCDS8797.2, CCDS8798.2	12q13-q14	2008-08-05			ENSG00000066117	ENSG00000066117			11106	protein-coding gene	gene with protein product		601735				8804307, 9693044, 12917342	Standard	NM_003076		Approved	BAF60A, Rsc6p, CRACD1	uc001rvx.4	Q96GM5	OTTHUMG00000150194	ENST00000394963.4:c.801C>T	12.37:g.50483696C>T						SMARCD1_ENST00000381513.4_Silent_p.T267T|SMARCD1_ENST00000548573.1_Silent_p.T65T	p.T267T	NM_003076.4	NP_003067.3	Q96GM5	SMRD1_HUMAN			7	1199	+			267			Interaction with SMARCC1 and SMARCC2.|Necessary for GR/NR3C1-mediated remodeling and transcription from chromatin; required for GR/NR3C1 interaction with the BRG1/SMARCA4 complex in vivo.			Silent	SNP	ENST00000394963.4	37	c.801C>T	CCDS8797.2																																																																																				0.577	SMARCD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316759.2	NM_003076		8	19	0	0	0	1	0	8	19					T	50483696	C	T	50483696	2	4	435	1	0	0	0	0	0	0	0	1	14777	639	23	2		2	SMARCD1	12	50483696	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	134458	50483696	83368199	5689	26614											
LARP4	113251	broad.mit.edu	37	chr12	50824352	50824352	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aattagaattctgtttttcaCggtattgctgtttccccttt	7	20	6	8	1	2	1	1	0	1	1	3	1	3	1	2	1	1	4	2	1	4	8			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:50824352C>T	ENST00000398473.2	+	4	509	c.397C>T	c.(397-399)Cga>Tga	p.R133*	LARP4_ENST00000429001.3_Splice_Site_p.R139*|LARP4_ENST00000522085.1_Splice_Site_p.R133*|LARP4_ENST00000518444.1_Splice_Site_p.R132*|LARP4_ENST00000347328.5_Splice_Site_p.R133*|LARP4_ENST00000518561.1_Splice_Site_p.R63*|LARP4_ENST00000293618.8_Splice_Site_p.R133*	NM_052879.4|NM_199188.2	NP_443111.4|NP_954658.2	Q71RC2	LARP4_HUMAN	La ribonucleoprotein domain family, member 4	133	HTH La-type RNA-binding. {ECO:0000255|PROSITE-ProRule:PRU00332}.				cytoskeleton organization (GO:0007010)|regulation of cell morphogenesis (GO:0022604)	membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(1)|skin(2)|urinary_tract(1)	23						CTGTTTTTCACGGTATTGCTG	0.313																																						ENST00000398473.2																			0				breast(3)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(1)|skin(2)|urinary_tract(1)	23						c.e4+1		La ribonucleoprotein domain family, member 4							79	70	73					12																	50824352		1812	4082	5894	SO:0001630	splice_region_variant	113251						nucleotide binding|RNA binding	g.chr12:50824352C>T	AY004310	CCDS41782.1, CCDS44879.1, CCDS44880.1, CCDS44879.2, CCDS53789.1, CCDS53790.1	12q13.12	2005-08-09			ENSG00000161813	ENSG00000161813		"La ribonucleoprotein domain containing"	24320	protein-coding gene	gene with protein product						12477932	Standard	NM_052879		Approved	PP13296	uc001rwp.2	Q71RC2	OTTHUMG00000163724	ENST00000398473.2:c.398+1C>T	12.37:g.50824352C>T						LARP4_ENST00000429001.3_Splice_Site_p.R139_splice|LARP4_ENST00000293618.8_Splice_Site_p.R133_splice|LARP4_ENST00000518444.1_Splice_Site_p.R132_splice|LARP4_ENST00000347328.5_Splice_Site_p.R133_splice|LARP4_ENST00000518561.1_Splice_Site_p.R63_splice|LARP4_ENST00000522085.1_Splice_Site_p.R133_splice	p.R133_splice	NM_052879.4|NM_199188.2	NP_443111.4|NP_954658.2	Q71RC2	LARP4_HUMAN			4	509	+			133			HTH La-type RNA-binding.		A8K6T1|E9PDG5|G3XAA8|G5E976|Q5CZ97|Q6ZV14|Q96NF9	Splice_Site	SNP	ENST00000398473.2	37	c.398_splice	CCDS41782.1	.	.	.	.	.	.	.	.	.	.	C	15.93	2.978303	0.53720	.	.	ENSG00000161813	ENST00000293618;ENST00000429001;ENST00000548993;ENST00000398473;ENST00000441650;ENST00000522085;ENST00000398464;ENST00000518444;ENST00000551886;ENST00000518561;ENST00000347328;ENST00000550260;ENST00000517559	.	.	.	4.75	3.8	0.43715	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.4409	0.67318	0.1474:0.8525:0.0:0.0	.	.	.	.	X	133;139;63;133;63;133;133;132;132;63;133;131;63	.	ENSP00000293618:R133X	R	+	1	2	LARP4	49110619	0.703000	0.27826	1.000000	0.80357	0.796000	0.44982	0.477000	0.22196	2.362000	0.80069	0.460000	0.39030	CGA		0.313	LARP4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000374981.1	NM_052879	Nonsense_Mutation	13	18	0	0	0	1	0	13	18					T	50824352	C	T	50824352	5	4	435	1	0	0	0	0	0	0	1	0	8630	550	19	1	411	1	LARP4	12	50824352	Splice_Site	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	340656	50824352	83027543	5690	26615											
DIP2B	57609	broad.mit.edu	37	chr12	51138419	51138419	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tggtggttgtggaactgtgcGgctctgaacaggaagcccta	8	10	15	8	1	1	1	0	1	1	0	1	3	1	3	1	5	4	2	1	5	4	2	rs138370328	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:51138419G>A	ENST00000301180.5	+	38	4562	c.4528G>A	c.(4528-4530)Ggc>Agc	p.G1510S	Y_RNA_ENST00000363558.1_RNA	NM_173602.2	NP_775873.2	Q9P265	DIP2B_HUMAN	DIP2 disco-interacting protein 2 homolog B (Drosophila)	1510						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	catalytic activity (GO:0003824)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(15)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	60						GGAACTGTGCGGCTCTGAACA	0.483																																						ENST00000301180.5																			0				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(15)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	60						c.(4528-4530)Ggc>Agc		DIP2 disco-interacting protein 2 homolog B (Drosophila)		G	SER/GLY	1,4405	2.1+/-5.4	0,1,2202	193	152	166		4528	5.7	1	12	dbSNP_134	166	1,8599	1.2+/-3.3	0,1,4299	no	missense	DIP2B	NM_173602.2	56	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	possibly-damaging	1510/1577	51138419	2,13004	2203	4300	6503	SO:0001583	missense	57609					nucleus	catalytic activity|transcription factor binding	g.chr12:51138419G>A	AB040896	CCDS31799.1	12q13.12	2012-10-02	2006-01-13		ENSG00000066084	ENSG00000066084			29284	protein-coding gene	gene with protein product		611379					Standard	XM_005269044		Approved	KIAA1463, FLJ34278	uc001rwv.3	Q9P265	OTTHUMG00000169475	ENST00000301180.5:c.4528G>A	12.37:g.51138419G>A	ENSP00000301180:p.Gly1510Ser						p.G1510S	NM_173602.2	NP_775873.2	Q9P265	DIP2B_HUMAN			38	4562	+			1510					Q6B011|Q8N1L5|Q8NB38	Missense_Mutation	SNP	ENST00000301180.5	37	c.4528G>A	CCDS31799.1	.	.	.	.	.	.	.	.	.	.	G	32	5.172897	0.94807	2.27E-4	1.16E-4	ENSG00000066084	ENST00000301180	T	0.10192	2.9	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	T	0.31389	0.0795	M	0.62723	1.935	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.00419	-1.1751	10	0.20519	T	0.43	-14.8111	19.9142	0.97043	0.0:0.0:1.0:0.0	.	1510	Q9P265	DIP2B_HUMAN	S	1510	ENSP00000301180:G1510S	ENSP00000301180:G1510S	G	+	1	0	DIP2B	49424686	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.601000	0.98297	2.941000	0.99782	0.655000	0.94253	GGC		0.483	DIP2B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404243.1	NM_173602		14	101	0	0	0	1	0	14	101					A	51138419	G	A	51138419	3	1	435	1	0	0	0	0	1	0	0	0	4528	1116	39	2	4678	2	DIP2B	12	51138419	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	314067	51138419	82713476	5691	26616											
LETMD1	25875	broad.mit.edu	37	chr12	51450273	51450273	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	attggccagctgactgctcaGgaagtaaaatcggtaagagc	13	8	12	8	1	1	2	1	1	0	1	2	3	1	3	1	3	3	4	1	3	4	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:51450273G>T	ENST00000262055.4	+	7	942	c.903G>T	c.(901-903)caG>caT	p.Q301H	LETMD1_ENST00000418425.2_Missense_Mutation_p.Q314H|LETMD1_ENST00000552739.1_Missense_Mutation_p.Q184H|LETMD1_ENST00000547008.1_Missense_Mutation_p.Q177H|LETMD1_ENST00000380123.2_3'UTR|LETMD1_ENST00000548516.1_3'UTR|LETMD1_ENST00000550929.1_Missense_Mutation_p.Q245H	NM_015416.4	NP_056231.3	Q6P1Q0	LTMD1_HUMAN	LETM1 domain containing 1	301	LETM1.					integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)				central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(4)|skin(1)|urinary_tract(3)	16						TGACTGCTCAGGAAGTAAAAT	0.502																																						ENST00000418425.2																			0				central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(4)|skin(1)|urinary_tract(3)	16						c.(940-942)caG>caT		LETM1 domain containing 1							84	80	81					12																	51450273		2203	4300	6503	SO:0001583	missense	25875					integral to membrane|mitochondrial outer membrane	protein binding	g.chr12:51450273G>T	AF195651	CCDS8806.1, CCDS58231.1, CCDS73469.1	12q13.13	2006-04-12				ENSG00000050426			24241	protein-coding gene	gene with protein product	"cervical cancer 1 protooncogene"					12879013, 12061725	Standard	NM_015416		Approved	HCCR1	uc009zlw.3	Q6P1Q0	OTTHUMG00000169538	ENST00000262055.4:c.903G>T	12.37:g.51450273G>T	ENSP00000262055:p.Gln301His					LETMD1_ENST00000552739.1_Missense_Mutation_p.Q184H|LETMD1_ENST00000380123.2_3'UTR|LETMD1_ENST00000550929.1_Missense_Mutation_p.Q245H|LETMD1_ENST00000548516.1_3'UTR|LETMD1_ENST00000547008.1_Missense_Mutation_p.Q177H|LETMD1_ENST00000262055.4_Missense_Mutation_p.Q301H	p.Q314H	NM_001243689.1	NP_001230618.1	Q6P1Q0	LTMD1_HUMAN			7	961	+			301			LETM1.		A6NER7|B3KXK7|Q6X2E4|Q6X2E5|Q7L2G9|Q7L690|Q8WXW6|Q96PK7|Q9BY59|Q9Y3X3	Missense_Mutation	SNP	ENST00000262055.4	37	c.942G>T	CCDS8806.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	G|G|G	15.15|15.15|15.15	2.748326|2.748326|2.748326	0.49257|0.49257|0.49257	.|.|.	.|.|.	ENSG00000050426|ENSG00000050426|ENSG00000050426	ENST00000553043|ENST00000551477;ENST00000550929;ENST00000262055;ENST00000549340;ENST00000548251;ENST00000550814;ENST00000547660;ENST00000418425;ENST00000547008;ENST00000552739;ENST00000547256|ENST00000551931	.|T;T;T;T;T;T;T;T;T|.	.|0.52526|.	.|0.95;0.95;0.95;0.95;0.66;0.95;0.95;0.95;0.95|.	5.49|5.49|5.49	2.48|2.48|2.48	0.30137|0.30137|0.30137	.|LETM1-like (1);|.	.|0.404895|.	.|0.27841|.	.|N|.	.|0.017628|.	.|T|T	.|0.55417|0.55417	.|0.1919|0.1919	L|L|L	0.50333|0.50333|0.50333	1.59|1.59|1.59	0.80722|0.80722|0.80722	D|D|D	1|1|1	.|D;P;D;D;P|.	.|0.76494|.	.|0.958;0.658;0.999;0.996;0.942|.	.|P;P;D;D;P|.	.|0.70487|.	.|0.568;0.453;0.969;0.929;0.823|.	.|T|T	.|0.45205|0.45205	.|-0.9277|-0.9277	.|10|5	0.87932|0.38643|.	D|T|.	0|0.18|.	-7.7487|-7.7487|-7.7487	7.6885|7.6885|7.6885	0.28554|0.28554|0.28554	0.4616:0.0:0.5384:0.0|0.4616:0.0:0.5384:0.0|0.4616:0.0:0.5384:0.0	.|.|.	.|251;314;177;184;301|.	.|F8VVQ3;B3KXK7;F8W1Z2;F8VP71;Q6P1Q0|.	.|.;.;.;.;LTMD1_HUMAN|.	X|H|M	70|268;245;301;251;184;109;56;314;177;184;83|85	.|ENSP00000446862:Q268H;ENSP00000450163:Q245H;ENSP00000262055:Q301H;ENSP00000449896:Q251H;ENSP00000447166:Q184H;ENSP00000450391:Q56H;ENSP00000389903:Q314H;ENSP00000447419:Q177H;ENSP00000450333:Q184H|.	ENSP00000369478:G139X|ENSP00000262055:Q301H|.	G|Q|R	+|+|+	1|3|2	0|2|0	LETMD1|LETMD1|LETMD1	49736540|49736540|49736540	0.997000|0.997000|0.997000	0.39634|0.39634|0.39634	0.989000|0.989000|0.989000	0.46669|0.46669|0.46669	0.951000|0.951000|0.951000	0.60555|0.60555|0.60555	0.579000|0.579000|0.579000	0.23788|0.23788|0.23788	0.297000|0.297000|0.297000	0.22615|0.22615|0.22615	-0.345000|-0.345000|-0.345000	0.07892|0.07892|0.07892	GGA|CAG|AGG		0.502	LETMD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404710.1	NM_015416		5	68	1	0	0.014758	1	0.0148771	5	68					T	51450273	G	T	51450273	3	4	435	1	0	0	0	0	1	0	0	0	8736	991	35	5	929	5	LETMD1	12	51450273	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	311854	51450273	82401622	5692	26617											
TFCP2	7024	broad.mit.edu	37	chr12	51495718	51495718	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttaacactaattacatacCggccttttaatgcattaaaa	15	15	3	8	1	0	0	0	0	0	0	0	0	0	0	2	1	4	1	2	1	7	8			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:51495718C>T	ENST00000257915.5	-	11	1609	c.1151G>A	c.(1150-1152)cGg>cAg	p.R384Q	TFCP2_ENST00000549867.1_Intron|TFCP2_ENST00000548115.1_Splice_Site_p.R333Q|TFCP2_ENST00000307660.4_Splice_Site_p.R333Q	NM_001173452.1|NM_005653.4	NP_001166923.1|NP_005644.2	Q12800	TFCP2_HUMAN	transcription factor CP2	384	DNA-binding.				regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)	23						AATTACATACCGGCCTTTTAA	0.358																																						ENST00000307660.4																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)	23						c.e10+1		transcription factor CP2							57	59	58					12																	51495718		2203	4298	6501	SO:0001630	splice_region_variant	7024				regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr12:51495718C>T	U03494	CCDS8808.1, CCDS55827.1	12q13	2004-01-05				ENSG00000135457			11748	protein-coding gene	gene with protein product		189889				8157699	Standard	NM_005653		Approved	CP2, LSF, LBP-1C, TFCP2C	uc001rxw.3	Q12800	OTTHUMG00000169621	ENST00000257915.5:c.1151+1G>A	12.37:g.51495718C>T						TFCP2_ENST00000257915.5_Splice_Site_p.R384_splice|TFCP2_ENST00000548115.1_Splice_Site_p.R333_splice|TFCP2_ENST00000549867.1_Intron	p.R333_splice	NM_001173453.1	NP_001166924.1	Q12800	TFCP2_HUMAN			10	1718	-			384			DNA-binding.		A8K5E9|Q12801|Q9UD75|Q9UD77	Splice_Site	SNP	ENST00000257915.5	37	c.998_splice	CCDS8808.1	.	.	.	.	.	.	.	.	.	.	C	28.2	4.899310	0.91962	.	.	ENSG00000135457	ENST00000257915;ENST00000307660;ENST00000548115;ENST00000548108	T;T;T;T	0.59502	1.83;0.28;0.26;1.79	4.55	4.55	0.56014	Sterile alpha motif/pointed domain (1);	0.000000	0.85682	D	0.000000	T	0.77505	0.4140	M	0.85630	2.765	0.58432	D	0.999998	D;D;D	0.76494	0.988;0.999;0.998	P;D;P	0.66847	0.737;0.947;0.886	T	0.79938	-0.1592	9	.	.	.	-21.6723	17.2924	0.87160	0.0:1.0:0.0:0.0	.	333;384;384	Q12800-2;Q12800;Q12800-4	.;TFCP2_HUMAN;.	Q	384;333;333;286	ENSP00000257915:R384Q;ENSP00000304411:R333Q;ENSP00000447991:R333Q;ENSP00000449280:R286Q	.	R	-	2	0	TFCP2	49781985	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.861000	0.69553	2.816000	0.96949	0.563000	0.77884	CGG		0.358	TFCP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405119.1	NM_005653	Missense_Mutation	33	50	0	0	0	1	0	33	50					T	51495718	C	T	51495718	5	4	435	1	0	0	0	0	0	0	1	0	15792	666	23	2	377	2	TFCP2	12	51495718	Splice_Site	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	45445	51495718	82356177	5693	26618											
TFCP2	7024	broad.mit.edu	37	chr12	51512418	51512418	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tctaaccttgattgagatacGttagggtttcatcatggagt	10	15	10	6	1	3	2	2	2	1	1	3	4	3	3	1	2	2	2	1	2	3	6			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:51512418G>A	ENST00000257915.5	-	2	718	c.260C>T	c.(259-261)aCg>aTg	p.T87M	TFCP2_ENST00000549867.1_Missense_Mutation_p.T87M|TFCP2_ENST00000548115.1_Missense_Mutation_p.T87M|TFCP2_ENST00000307660.4_Missense_Mutation_p.T87M	NM_001173452.1|NM_005653.4	NP_001166923.1|NP_005644.2	Q12800	TFCP2_HUMAN	transcription factor CP2	87					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)	23						ATTGAGATACGTTAGGGTTTC	0.383																																						ENST00000307660.4																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)	23						c.(259-261)aCg>aTg		transcription factor CP2							165	154	158					12																	51512418		2203	4300	6503	SO:0001583	missense	7024				regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr12:51512418G>A	U03494	CCDS8808.1, CCDS55827.1	12q13	2004-01-05				ENSG00000135457			11748	protein-coding gene	gene with protein product		189889				8157699	Standard	NM_005653		Approved	CP2, LSF, LBP-1C, TFCP2C	uc001rxw.3	Q12800	OTTHUMG00000169621	ENST00000257915.5:c.260C>T	12.37:g.51512418G>A	ENSP00000257915:p.Thr87Met					TFCP2_ENST00000257915.5_Missense_Mutation_p.T87M|TFCP2_ENST00000548115.1_Missense_Mutation_p.T87M|TFCP2_ENST00000549867.1_Missense_Mutation_p.T87M	p.T87M	NM_001173453.1	NP_001166924.1	Q12800	TFCP2_HUMAN			2	980	-			87					A8K5E9|Q12801|Q9UD75|Q9UD77	Missense_Mutation	SNP	ENST00000257915.5	37	c.260C>T	CCDS8808.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.093340	0.76756	.	.	ENSG00000135457	ENST00000257915;ENST00000307660;ENST00000549867;ENST00000548115	T;T;T;T	0.28069	1.63;1.63;1.63;1.63	5.66	4.77	0.60923	CP2 transcription factor (1);	0.000000	0.85682	D	0.000000	T	0.62405	0.2425	M	0.90145	3.09	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.997;0.996;0.999;0.998	T	0.71682	-0.4519	10	0.87932	D	0	-12.7359	13.9833	0.64317	0.0745:0.0:0.9255:0.0	.	87;87;87;87	Q12800-2;F8VX55;Q12800;Q12800-4	.;.;TFCP2_HUMAN;.	M	87	ENSP00000257915:T87M;ENSP00000304411:T87M;ENSP00000449742:T87M;ENSP00000447991:T87M	ENSP00000257915:T87M	T	-	2	0	TFCP2	49798685	1.000000	0.71417	0.892000	0.35008	0.824000	0.46624	9.755000	0.98912	1.541000	0.49316	0.591000	0.81541	ACG		0.383	TFCP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405119.1	NM_005653		24	37	0	0	0	1	0	24	37					A	51512418	G	A	51512418	3	1	435	1	0	0	0	0	1	0	0	0	15792	1145	40	1	1304	1	TFCP2	12	51512418	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	16700	51512418	82339477	5694	26619											
POU6F1	5463	broad.mit.edu	37	chr12	51584091	51584091	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgtctggcgccgattgcagAaccagacccgcactacctca	9	6	10	16	4	2	2	1	0	1	2	2	3	2	2	4	1	3	2	4	1	2	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:51584091A>T	ENST00000389243.4	-	11	1784	c.845T>A	c.(844-846)tTc>tAc	p.F282Y	POU6F1_ENST00000550824.1_Missense_Mutation_p.F282Y|POU6F1_ENST00000333640.10_Missense_Mutation_p.F282Y			Q14863	PO6F1_HUMAN	POU class 6 homeobox 1	282					brain development (GO:0007420)|heart development (GO:0007507)|muscle organ development (GO:0007517)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|cervix(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(1)	11						CCGATTGCAGAACCAGACCCG	0.537																																						ENST00000389243.4																			0				breast(2)|cervix(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(1)	11						c.(844-846)tTc>tAc		POU class 6 homeobox 1							106	94	98					12																	51584091		2203	4300	6503	SO:0001583	missense	5463				brain development|heart development|muscle organ development	nucleus	sequence-specific DNA binding transcription factor activity	g.chr12:51584091A>T	AL832881	CCDS31803.1	12q13.13	2011-06-20	2007-07-13			ENSG00000184271		"Homeoboxes / POU class"	9224	protein-coding gene	gene with protein product			"POU domain, class 6, transcription factor 1"			7908264	Standard	NM_002702		Approved	BRN5, MPOU, TCFB1	uc001rxz.3	Q14863		ENST00000389243.4:c.845T>A	12.37:g.51584091A>T	ENSP00000373895:p.Phe282Tyr					POU6F1_ENST00000333640.10_Missense_Mutation_p.F282Y|POU6F1_ENST00000550824.1_Missense_Mutation_p.F282Y	p.F282Y			Q14863	PO6F1_HUMAN			11	1784	-			282					Q15944|Q6DK47|Q7Z7P6	Missense_Mutation	SNP	ENST00000389243.4	37	c.845T>A	CCDS31803.1	.	.	.	.	.	.	.	.	.	.	A	33	5.249973	0.95305	.	.	ENSG00000184271	ENST00000389243;ENST00000333640;ENST00000550824	D;D;D	0.99719	-6.52;-6.52;-6.52	5.28	5.28	0.74379	Homeodomain-related (1);Homeobox (3);POU (1);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	D	0.99664	0.9875	M	0.85859	2.78	0.80722	D	1	P	0.43750	0.816	P	0.62813	0.907	D	0.97075	0.9780	10	0.87932	D	0	.	14.2007	0.65703	1.0:0.0:0.0:0.0	.	282	Q14863	PO6F1_HUMAN	Y	282	ENSP00000373895:F282Y;ENSP00000330190:F282Y;ENSP00000448389:F282Y	ENSP00000330190:F282Y	F	-	2	0	POU6F1	49870358	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.225000	0.95219	2.001000	0.58596	0.459000	0.35465	TTC		0.537	POU6F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405126.1	NM_002702		26	45	0	0	0	1	0	26	45					T	51584091	A	T	51584091	3	4	435	1	0	0	0	0	1	0	0	0	12284	246	9	5	64	5	POU6F1	12	51584091	Missense_Mutation	SNP	A	TCGA-XK-AAIW-01A-11D-A41K-08	71673	51584091	82267804	5695	26620											
CELA1	1990	broad.mit.edu	37	chr12	51735033	51735033	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	atgtaggcaacttactcttgGtcttgccccagcctgtgatg	7	13	10	11	0	2	1	0	1	2	0	2	1	2	1	3	2	4	2	3	2	3	4	rs570590429		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:51735033G>A	ENST00000293636.1	-	5	498	c.458C>T	c.(457-459)aCc>aTc	p.T153I		NM_001971.5	NP_001962.3	Q9UNI1	CELA1_HUMAN	chymotrypsin-like elastase family, member 1	153	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				exocrine pancreas development (GO:0031017)|inflammatory response (GO:0006954)|multicellular organism growth (GO:0035264)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|pancreas morphogenesis (GO:0061113)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic development (GO:0009791)|regulation of cell differentiation (GO:0045595)|regulation of cell proliferation (GO:0042127)|Wnt signaling pathway (GO:0016055)	extracellular region (GO:0005576)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(3)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1)|stomach(1)	15						CTTACTCTTGGTCTTGCCCCA	0.522											OREG0021819	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000293636.1																			0				NS(1)|breast(3)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1)|stomach(1)	15						c.(457-459)aCc>aTc		chymotrypsin-like elastase family, member 1							193	149	164					12																	51735033		2203	4300	6503	SO:0001583	missense	1990				proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity	g.chr12:51735033G>A		CCDS8812.1	12q13	2012-10-02	2009-05-05	2009-05-05	ENSG00000139610	ENSG00000139610			3308	protein-coding gene	gene with protein product		130120	"elastase 1, pancreatic"	ELA1			Standard	NM_001971		Approved		uc001ryi.1	Q9UNI1	OTTHUMG00000167523	ENST00000293636.1:c.458C>T	12.37:g.51735033G>A	ENSP00000293636:p.Thr153Ile		OREG0021819	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	979		p.T153I	NM_001971.5	NP_001962.3	Q9UNI1	CELA1_HUMAN			5	498	-			153			Peptidase S1.		Q5MLF0|Q6DJT0|Q6ISM6	Missense_Mutation	SNP	ENST00000293636.1	37	c.458C>T	CCDS8812.1	.	.	.	.	.	.	.	.	.	.	G	20.1	3.935931	0.73442	.	.	ENSG00000139610	ENST00000293636	D	0.94232	-3.38	5.12	4.22	0.49857	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.85682	D	0.000000	D	0.93184	0.7829	L	0.29908	0.895	0.58432	D	0.999995	D	0.76494	0.999	D	0.76575	0.988	D	0.90955	0.4808	10	0.29301	T	0.29	-26.8044	12.3182	0.54969	0.0843:0.0:0.9157:0.0	.	153	Q9UNI1	CELA1_HUMAN	I	153	ENSP00000293636:T153I	ENSP00000293636:T153I	T	-	2	0	CELA1	50021300	1.000000	0.71417	0.969000	0.41365	0.975000	0.68041	3.247000	0.51422	2.568000	0.86640	0.549000	0.68633	ACC		0.522	CELA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394901.1	NM_001971		27	29	0	0	0	1	0	27	29					A	51735033	G	A	51735033	3	1	435	1	0	0	0	0	1	0	0	0	3210	1261	44	3	334	3	CELA1	12	51735033	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	150942	51735033	82116862	5696	26621											
SCN8A	6334	broad.mit.edu	37	chr12	52056609	52056609	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcaggatgagaagatggcagCgcggctgcttgcaccaccag	10	5	15	11	2	0	2	0	1	0	2	0	4	0	3	2	3	3	5	2	3	1	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:52056609C>T	ENST00000354534.6	+	2	186	c.8C>T	c.(7-9)gCg>gTg	p.A3V	SCN8A_ENST00000545061.1_Missense_Mutation_p.A3V|SCN8A_ENST00000550891.1_Missense_Mutation_p.A3V	NM_001177984.2|NM_014191.3	NP_001171455.1|NP_055006.1	Q9UQD0	SCN8A_HUMAN	sodium channel, voltage gated, type VIII, alpha subunit	3					adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|membrane depolarization during action potential (GO:0086010)|muscle organ development (GO:0007517)|myelination (GO:0042552)|nervous system development (GO:0007399)|neuromuscular process (GO:0050905)|neuronal action potential (GO:0019228)|peripheral nervous system development (GO:0007422)|response to toxic substance (GO:0009636)|sensory perception of sound (GO:0007605)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon initial segment (GO:0043194)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)|Z disc (GO:0030018)	ATP binding (GO:0005524)|voltage-gated sodium channel activity (GO:0005248)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55				BRCA - Breast invasive adenocarcinoma(357;0.181)	Valproic Acid(DB00313)	AAGATGGCAGCGCGGCTGCTT	0.517																																						ENST00000354534.5																			0				breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55						c.(7-9)gCg>gTg		sodium channel, voltage gated, type VIII, alpha subunit	Lamotrigine(DB00555)						100	100	100					12																	52056609		2046	4210	6256	SO:0001583	missense	6334				axon guidance|myelination|peripheral nervous system development	cytoplasmic membrane-bounded vesicle|node of Ranvier	ATP binding|voltage-gated sodium channel activity	g.chr12:52056609C>T	AB027567	CCDS44891.1, CCDS53794.1	12q13.1	2012-02-26	2007-01-23			ENSG00000196876		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10596	protein-coding gene	gene with protein product		600702	"sodium channel, voltage gated, type VIII, alpha polypeptide"	MED		7670495, 9828131, 16382098	Standard	NM_014191		Approved	Nav1.6, NaCh6, PN4, CerIII	uc001ryw.4	Q9UQD0		ENST00000354534.6:c.8C>T	12.37:g.52056609C>T	ENSP00000346534:p.Ala3Val					SCN8A_ENST00000545061.1_Missense_Mutation_p.A3V|SCN8A_ENST00000550891.1_Missense_Mutation_p.A3V	p.A3V	NM_001177984.2|NM_014191.3	NP_001171455.1|NP_055006.1	Q9UQD0	SCN8A_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.181)	2	186	+			3					B9VWG8|O95788|Q9NYX2|Q9UPB2	Missense_Mutation	SNP	ENST00000354534.6	37	c.8C>T	CCDS44891.1	.	.	.	.	.	.	.	.	.	.	C	24.1	4.488132	0.84854	.	.	ENSG00000196876	ENST00000550891;ENST00000354534;ENST00000545061;ENST00000355133	D;D;D;D	0.96716	-4.08;-4.1;-4.1;-3.96	4.97	4.07	0.47477	.	.	.	.	.	D	0.91962	0.7454	L	0.37630	1.12	0.80722	D	1	P	0.44816	0.844	B	0.32342	0.144	D	0.91903	0.5533	9	0.54805	T	0.06	.	14.967	0.71201	0.0:0.7295:0.2705:0.0	.	3	Q9UQD0	SCN8A_HUMAN	V	3	ENSP00000448415:A3V;ENSP00000346534:A3V;ENSP00000440360:A3V;ENSP00000347255:A3V	ENSP00000346534:A3V	A	+	2	0	SCN8A	50342876	0.987000	0.35691	1.000000	0.80357	0.993000	0.82548	2.566000	0.45948	1.442000	0.47568	0.655000	0.94253	GCG		0.517	SCN8A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404372.3	NM_014191		16	79	0	0	0	1	0	16	79					T	52056609	C	T	52056609	3	4	435	1	0	0	0	0	1	0	0	0	13924	768	27	1	10	1	SCN8A	12	52056609	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	321576	52056609	81795286	5697	26622											
ACVR1B	91	broad.mit.edu	37	chr12	52385742	52385742	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttgtatgtgatcagaagctgCgtcccaacatccccaactgg	10	10	9	12	1	1	2	1	1	0	1	3	2	3	2	3	1	4	2	3	1	4	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:52385742C>T	ENST00000257963.4	+	8	1434	c.1357C>T	c.(1357-1359)Cgt>Tgt	p.R453C	ACVR1B_ENST00000563121.1_3'UTR|ACVR1B_ENST00000426655.2_Missense_Mutation_p.R453C|ACVR1B_ENST00000542485.1_Missense_Mutation_p.R401C|ACVR1B_ENST00000541224.1_Missense_Mutation_p.R494C	NM_004302.4|NM_020328.3	NP_004293.1|NP_064733.3	P36896	ACV1B_HUMAN	activin A receptor, type IB	453	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activin receptor signaling pathway (GO:0032924)|central nervous system development (GO:0007417)|development of primary female sexual characteristics (GO:0046545)|extrinsic apoptotic signaling pathway (GO:0097191)|G1/S transition of mitotic cell cycle (GO:0000082)|hair follicle development (GO:0001942)|in utero embryonic development (GO:0001701)|negative regulation of cell growth (GO:0030308)|nodal signaling pathway (GO:0038092)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of activin receptor signaling pathway (GO:0032927)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of trophoblast cell migration (GO:1901165)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	activin receptor activity, type I (GO:0016361)|ATP binding (GO:0005524)|inhibin binding (GO:0034711)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|SMAD binding (GO:0046332)|transforming growth factor beta-activated receptor activity (GO:0005024)|transmembrane receptor protein serine/threonine kinase activity (GO:0004675)|ubiquitin protein ligase binding (GO:0031625)			breast(5)|endometrium(4)|kidney(5)|large_intestine(12)|lung(10)|ovary(1)|pancreas(6)|prostate(1)	44				BRCA - Breast invasive adenocarcinoma(357;0.104)	Adenosine triphosphate(DB00171)	TCAGAAGCTGCGTCCCAACAT	0.498																																						ENST00000257963.4																			0				breast(5)|endometrium(4)|kidney(5)|large_intestine(12)|lung(10)|ovary(1)|pancreas(6)|prostate(1)	44						c.(1357-1359)Cgt>Tgt		activin A receptor, type IB	Adenosine triphosphate(DB00171)						157	135	142					12																	52385742		2203	4300	6503	SO:0001583	missense	91				G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|peptidyl-threonine phosphorylation|positive regulation of activin receptor signaling pathway|positive regulation of erythrocyte differentiation|protein autophosphorylation|transmembrane receptor protein serine/threonine kinase signaling pathway	cell surface	activin receptor activity, type I|ATP binding|metal ion binding|SMAD binding|transforming growth factor beta receptor activity|ubiquitin protein ligase binding	g.chr12:52385742C>T		CCDS8816.1, CCDS44893.1, CCDS44894.1, CCDS44893.2, CCDS44894.2	12q13	2006-11-09			ENSG00000135503	ENSG00000135503			172	protein-coding gene	gene with protein product		601300		ACVRLK4		8397373	Standard	NM_020327		Approved	ALK4, SKR2, ActRIB	uc010snn.2	P36896	OTTHUMG00000167920	ENST00000257963.4:c.1357C>T	12.37:g.52385742C>T	ENSP00000257963:p.Arg453Cys					ACVR1B_ENST00000542485.1_Missense_Mutation_p.R401C|ACVR1B_ENST00000541224.1_Missense_Mutation_p.R494C|ACVR1B_ENST00000426655.2_Missense_Mutation_p.R453C|ACVR1B_ENST00000563121.1_3'UTR	p.R453C	NM_004302.4|NM_020328.3	NP_004293.1|NP_064733.3	P36896	ACV1B_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.104)	8	1434	+			453			Protein kinase.		B7Z5L8|B7Z5W5|Q15479|Q15480|Q15481|Q15482	Missense_Mutation	SNP	ENST00000257963.4	37	c.1357C>T	CCDS8816.1	.	.	.	.	.	.	.	.	.	.	C	19.93	3.917380	0.73098	.	.	ENSG00000135503	ENST00000257963;ENST00000541224;ENST00000426655;ENST00000542485	T;T;T;T	0.66995	-0.24;-0.24;-0.24;-0.24	4.05	4.05	0.47172	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.88607	0.6482	H	0.98068	4.14	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;0.999;1.0	D	0.93055	0.6469	10	0.87932	D	0	.	17.5301	0.87811	0.0:1.0:0.0:0.0	.	494;453;453	P36896-4;P36896;P36896-2	.;ACV1B_HUMAN;.	C	453;494;453;401	ENSP00000257963:R453C;ENSP00000442656:R494C;ENSP00000390477:R453C;ENSP00000442885:R401C	ENSP00000257963:R453C	R	+	1	0	ACVR1B	50672009	0.990000	0.36364	0.996000	0.52242	0.967000	0.64934	2.905000	0.48727	2.545000	0.85829	0.462000	0.41574	CGT		0.498	ACVR1B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397000.1	NM_020328		36	45	0	0	0	1	0	36	45					T	52385742	C	T	52385742	3	4	435	1	0	0	0	0	1	0	0	0	221	768	27	1	1514	1	ACVR1B	12	52385742	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	329133	52385742	81466153	5698	26623											
KRT80	144501	broad.mit.edu	37	chr12	52567466	52567466	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ccttcacctcctccacgatgCcgctcaggtcgatgtggcag	6	9	10	16	3	2	0	2	0	0	0	5	2	4	0	5	2	1	2	5	2	0	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:52567466C>T	ENST00000394815.2	-	5	846	c.749G>A	c.(748-750)gGc>gAc	p.G250D	KRT80_ENST00000313234.5_Missense_Mutation_p.G250D	NM_182507.2	NP_872313.2	Q6KB66	K2C80_HUMAN	keratin 80	250	Linker 12.|Rod.					cytoplasm (GO:0005737)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			endometrium(2)|large_intestine(2)|lung(1)	5				BRCA - Breast invasive adenocarcinoma(357;0.108)		CTCCACGATGCCGCTCAGGTC	0.652																																					GBM(178;2309 2916 15678 35873)	ENST00000313234.5																			0				endometrium(2)|large_intestine(2)|lung(1)	5						c.(748-750)gGc>gAc		keratin 80							86	73	78					12																	52567466		2203	4300	6503	SO:0001583	missense	144501					keratin filament	structural molecule activity	g.chr12:52567466C>T	BX537567	CCDS8821.2, CCDS41784.1	12q13.13	2013-01-16			ENSG00000167767	ENSG00000167767		"-", "Intermediate filaments type II, keratins (basic)"	27056	protein-coding gene	gene with protein product		611161				16831889	Standard	NM_001081492		Approved	KB20	uc001rzx.3	Q6KB66	OTTHUMG00000150193	ENST00000394815.2:c.749G>A	12.37:g.52567466C>T	ENSP00000378292:p.Gly250Asp					KRT80_ENST00000394815.2_Missense_Mutation_p.G250D	p.G250D	NM_001081492.1	NP_001074961.1	Q6KB66	K2C80_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.108)	5	846	-			250			Linker 12.|Rod.		Q6P1A5|Q7Z3Q0	Missense_Mutation	SNP	ENST00000394815.2	37	c.749G>A	CCDS8821.2	.	.	.	.	.	.	.	.	.	.	C	20.3	3.974667	0.74360	.	.	ENSG00000167767	ENST00000313234;ENST00000394815	T;T	0.75260	-0.92;-0.92	4.23	4.23	0.50019	Filament (1);	0.194491	0.25570	N	0.029770	T	0.72732	0.3497	L	0.28694	0.88	0.38503	D	0.948286	P;P;D	0.56746	0.879;0.901;0.977	B;P;P	0.51016	0.408;0.599;0.656	T	0.79157	-0.1919	10	0.66056	D	0.02	.	17.1871	0.86869	0.0:1.0:0.0:0.0	.	250;250;285	Q6KB66-2;Q6KB66;Q6KB66-3	.;K2C80_HUMAN;.	D	250	ENSP00000369361:G250D;ENSP00000378292:G250D	ENSP00000369361:G250D	G	-	2	0	KRT80	50853733	0.985000	0.35326	1.000000	0.80357	0.968000	0.65278	2.450000	0.44943	2.375000	0.81037	0.561000	0.74099	GGC		0.652	KRT80-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000316757.1	NM_182507		20	44	0	0	0	1	0	20	44					T	52567466	C	T	52567466	3	4	435	1	0	0	0	0	1	0	0	0	8494	739	26	3	664	3	KRT80	12	52567466	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	181724	52567466	81284429	5699	26624											
KRT7	3855	broad.mit.edu	37	chr12	52627342	52627342	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acccctccctccagcgggtgCgccaggaggagagcgagcag	8	3	15	15	3	0	1	0	0	0	1	2	4	2	2	5	3	4	1	5	3	0	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:52627342C>T	ENST00000331817.5	+	1	445	c.262C>T	c.(262-264)Cgc>Tgc	p.R88C		NM_005556.3	NP_005547.3	P08729	K2C7_HUMAN	keratin 7	88	Head.				viral process (GO:0016032)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)|nucleus (GO:0005634)	structural molecule activity (GO:0005198)			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(2)|stomach(1)|urinary_tract(1)	14				BRCA - Breast invasive adenocarcinoma(357;0.105)	Primaquine(DB01087)	CCAGCGGGTGCGCCAGGAGGA	0.677																																						ENST00000331817.5																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(2)|stomach(1)|urinary_tract(1)	14						c.(262-264)Cgc>Tgc		keratin 7							39	42	41					12																	52627342		2202	4300	6502	SO:0001583	missense	3855				cytoskeleton organization|DNA replication|interphase|interspecies interaction between organisms|regulation of translation	Golgi apparatus|keratin filament|nucleus	protein binding|structural molecule activity	g.chr12:52627342C>T		CCDS8822.1	12q13.13	2013-01-16			ENSG00000135480	ENSG00000135480		"-", "Intermediate filaments type II, keratins (basic)"	6445	protein-coding gene	gene with protein product	"keratin, type II cytoskeletal 7", "cytokeratin 7", "sarcolectin", "keratin, 55K type II cytoskeletal"	148059				1713141, 16831889	Standard	XR_245927		Approved	K7, CK7, K2C7, SCL	uc001saa.1	P08729	OTTHUMG00000169580	ENST00000331817.5:c.262C>T	12.37:g.52627342C>T	ENSP00000329243:p.Arg88Cys						p.R88C	NM_005556.3	NP_005547.3	P08729	K2C7_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.105)	1	445	+			88			Head.		Q92676|Q9BUD8|Q9Y3R7	Missense_Mutation	SNP	ENST00000331817.5	37	c.262C>T	CCDS8822.1	.	.	.	.	.	.	.	.	.	.	C	25.5	4.648200	0.87958	.	.	ENSG00000135480	ENST00000331817;ENST00000543899;ENST00000422319;ENST00000551537	T	0.78595	-1.19	4.22	4.22	0.49857	.	0.000000	0.34178	N	0.004181	T	0.69851	0.3157	L	0.56769	1.78	0.80722	D	1	B;P	0.42993	0.33;0.797	B;B	0.33196	0.139;0.159	T	0.76509	-0.2933	10	0.87932	D	0	.	12.2669	0.54683	0.1697:0.8303:0.0:0.0	.	88;88	F8VZY5;P08729	.;K2C7_HUMAN	C	88;88;64;88	ENSP00000329243:R88C	ENSP00000329243:R88C	R	+	1	0	KRT7	50913609	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	1.874000	0.39568	2.351000	0.79841	0.457000	0.33378	CGC		0.677	KRT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404897.1	NM_005556		4	68	0	0	0	1	0	4	68					T	52627342	C	T	52627342	3	4	435	1	0	0	0	0	1	0	0	0	8483	768	27	1	264	1	KRT7	12	52627342	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	59876	52627342	81224553	5700	26625											
KRT7	3855	broad.mit.edu	37	chr12	52629021	52629021	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagtcggccaagagcagccGcctcccagacatctttgagg	10	6	12	13	2	1	3	0	1	1	2	3	4	2	3	4	2	2	1	4	2	2	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:52629021G>A	ENST00000331817.5	+	2	590	c.407G>A	c.(406-408)cGc>cAc	p.R136H		NM_005556.3	NP_005547.3	P08729	K2C7_HUMAN	keratin 7	136	Linker 1.|Rod.				viral process (GO:0016032)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)|nucleus (GO:0005634)	structural molecule activity (GO:0005198)			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(2)|stomach(1)|urinary_tract(1)	14				BRCA - Breast invasive adenocarcinoma(357;0.105)	Primaquine(DB01087)	AAGAGCAGCCGCCTCCCAGAC	0.637																																						ENST00000331817.5																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(2)|stomach(1)|urinary_tract(1)	14						c.(406-408)cGc>cAc		keratin 7							38	42	41					12																	52629021		2203	4300	6503	SO:0001583	missense	3855				cytoskeleton organization|DNA replication|interphase|interspecies interaction between organisms|regulation of translation	Golgi apparatus|keratin filament|nucleus	protein binding|structural molecule activity	g.chr12:52629021G>A		CCDS8822.1	12q13.13	2013-01-16			ENSG00000135480	ENSG00000135480		"-", "Intermediate filaments type II, keratins (basic)"	6445	protein-coding gene	gene with protein product	"keratin, type II cytoskeletal 7", "cytokeratin 7", "sarcolectin", "keratin, 55K type II cytoskeletal"	148059				1713141, 16831889	Standard	XR_245927		Approved	K7, CK7, K2C7, SCL	uc001saa.1	P08729	OTTHUMG00000169580	ENST00000331817.5:c.407G>A	12.37:g.52629021G>A	ENSP00000329243:p.Arg136His						p.R136H	NM_005556.3	NP_005547.3	P08729	K2C7_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.105)	2	590	+			136			Linker 1.|Rod.		Q92676|Q9BUD8|Q9Y3R7	Missense_Mutation	SNP	ENST00000331817.5	37	c.407G>A	CCDS8822.1	.	.	.	.	.	.	.	.	.	.	G	10.13	1.265756	0.23136	.	.	ENSG00000135480	ENST00000331817;ENST00000543899;ENST00000422319;ENST00000551537	D	0.89552	-2.53	4.6	0.439	0.16567	Filament (1);	1.811830	0.03108	N	0.162123	T	0.80909	0.4714	L	0.27053	0.805	0.22479	N	0.999068	B;B	0.12630	0.006;0.003	B;B	0.10450	0.005;0.004	T	0.64875	-0.6304	10	0.66056	D	0.02	.	0.8051	0.01082	0.3801:0.127:0.2987:0.1942	.	136;136	F8VZY5;P08729	.;K2C7_HUMAN	H	136;136;112;136	ENSP00000329243:R136H	ENSP00000329243:R136H	R	+	2	0	KRT7	50915288	0.001000	0.12720	0.107000	0.21349	0.803000	0.45373	0.694000	0.25512	-0.021000	0.14009	0.655000	0.94253	CGC		0.637	KRT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404897.1	NM_005556		13	32	0	0	0	1	0	13	32					A	52629021	G	A	52629021	3	1	435	1	0	0	0	0	1	0	0	0	8483	1087	38	1	413	1	KRT7	12	52629021	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	1679	52629021	81222874	5701	26626											
KRT81	3887	broad.mit.edu	37	chr12	52681897	52681897	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tccagcttgacaaccacggaGgtgtctgagatgtgcgactg	9	9	13	10	2	1	2	0	2	1	1	2	5	2	3	2	2	3	1	2	2	1	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:52681897G>T	ENST00000327741.5	-	5	839	c.771C>A	c.(769-771)acC>acA	p.T257T	KRT86_ENST00000423955.2_Intron|KRT86_ENST00000544024.1_Intron	NM_002281.3	NP_002272.2	Q14533	KRT81_HUMAN	keratin 81	257	Linker 12.|Rod.					extracellular space (GO:0005615)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			breast(2)|endometrium(3)|large_intestine(3)|lung(6)|prostate(1)|stomach(1)	16				BRCA - Breast invasive adenocarcinoma(357;0.189)		CAACCACGGAGGTGTCTGAGA	0.552																																						ENST00000327741.5																			0				breast(2)|endometrium(3)|large_intestine(3)|lung(6)|prostate(1)|stomach(1)	16						c.(769-771)acC>acA		keratin 81							126	111	116					12																	52681897		2203	4300	6503	SO:0001819	synonymous_variant	3887					keratin filament	protein binding|structural molecule activity	g.chr12:52681897G>T	X81420	CCDS31805.1	12q13	2013-01-16	2006-07-17	2006-07-17	ENSG00000205426	ENSG00000205426		"-", "Intermediate filaments type II, keratins (basic)"	6458	protein-coding gene	gene with protein product	"hard keratin type II 1"	602153	"keratin, hair, basic, 1"	KRTHB1		7556444, 16831889	Standard	NM_002281		Approved	Hb-1	uc001sab.3	Q14533	OTTHUMG00000167574	ENST00000327741.5:c.771C>A	12.37:g.52681897G>T						KRT86_ENST00000423955.2_Intron|KRT86_ENST00000544024.1_Intron	p.T257T	NM_002281.3	NP_002272.2	Q14533	KRT81_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.189)	5	839	-			257			Linker 12.|Rod.		Q14846|Q16274|Q17R48|Q8WU52|Q9BR74	Silent	SNP	ENST00000327741.5	37	c.771C>A	CCDS31805.1																																																																																				0.552	KRT81-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395128.2	NM_002281		4	73	1	0	0.150653	1	0.151081	4	73					T	52681897	G	T	52681897	2	4	435	1	0	0	0	0	0	0	0	1	8495	987	35	5		5	KRT81	12	52681897	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	52876	52681897	81169998	5702	26627											
KRT86	3892	broad.mit.edu	37	chr12	52699573	52699573	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tggagaatgccaagtgccagGtatggggcatctgtgcccaa	10	8	14	9	0	1	1	0	0	1	1	1	2	1	1	3	4	3	2	3	4	4	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:52699573G>A	ENST00000423955.2	+	8	1204		c.e8+1		KRT86_ENST00000293525.5_Splice_Site|RP11-845M18.6_ENST00000552441.1_RNA|KRT86_ENST00000544024.1_Splice_Site			O43790	KRT86_HUMAN	keratin 86							extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			breast(1)|cervix(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	10				BRCA - Breast invasive adenocarcinoma(357;0.189)		CAAGTGCCAGGTATGGGGCAT	0.587																																						ENST00000293525.5																			0				breast(1)|cervix(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	10						c.e6+1		keratin 86							108	97	101					12																	52699573		2203	4300	6503	SO:0001630	splice_region_variant	3892				cytoskeleton organization	keratin filament	structural molecule activity	g.chr12:52699573G>A	X99142	CCDS41785.1	12q13	2013-01-16	2006-07-17	2006-07-17		ENSG00000170442		"-", "Intermediate filaments type II, keratins (basic)"	6463	protein-coding gene	gene with protein product	"hard keratin type II 6"	601928	"keratin, hair, basic, 6 (monilethrix)"	KRTHB6		9241275, 16831889	Standard	NM_002284		Approved	MNX, Hb6	uc001sad.3	O43790		ENST00000423955.2:c.1026+1G>A	12.37:g.52699573G>A						KRT86_ENST00000423955.2_Splice_Site|KRT86_ENST00000544024.1_Splice_Site		NM_002284.3	NP_002275.1	O43790	KRT86_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.189)	6	1078	+								P78387	Splice_Site	SNP	ENST00000423955.2	37		CCDS41785.1	.	.	.	.	.	.	.	.	.	.	g	18.74	3.689028	0.68271	.	.	ENSG00000170442;ENSG00000170442;ENSG00000170442;ENSG00000258832	ENST00000544024;ENST00000423955;ENST00000293525;ENST00000553310	.	.	.	4.91	4.91	0.64330	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.2677	0.82600	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	AC021066.1;KRT86	50985840	1.000000	0.71417	0.999000	0.59377	0.703000	0.40648	9.506000	0.97992	2.289000	0.77006	0.555000	0.69702	.		0.587	KRT86-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404911.1	NM_002284	Intron	25	48	0	0	0	1	0	25	48					A	52699573	G	A	52699573	5	1	435	1	0	0	0	0	0	0	1	0	8500	1275	44	3	1049	3	KRT86	12	52699573	Splice_Site	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	17676	52699573	81152322	5703	26628											
KRT6B	3854	broad.mit.edu	37	chr12	52844401	52844401	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gttctgctgctctaggaaccGcacctggaggggaagcaaaa	11	7	13	10	1	2	0	0	0	2	0	2	3	2	3	2	4	4	5	2	4	5	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:52844401G>A	ENST00000252252.3	-	2	591	c.544C>T	c.(544-546)Cgg>Tgg	p.R182W		NM_005555.3	NP_005546.2	P04259	K2C6B_HUMAN	keratin 6B	182	Coil 1A.|Rod.				ectoderm development (GO:0007398)	extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	structural constituent of cytoskeleton (GO:0005200)	p.R182W(1)		NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(19)|ovary(4)|prostate(2)	40				BRCA - Breast invasive adenocarcinoma(357;0.083)		TCTAGGAACCGCACCTGGAGG	0.557																																						ENST00000252252.3																			1	Substitution - Missense(1)	p.R182W(1)	haematopoietic_and_lymphoid_tissue(1)	NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(19)|ovary(4)|prostate(2)	40						c.(544-546)Cgg>Tgg		keratin 6B							68	80	76					12																	52844401		2203	4300	6503	SO:0001583	missense	3854				ectoderm development	keratin filament	structural constituent of cytoskeleton	g.chr12:52844401G>A	BC034535	CCDS8828.1	12q13.13	2013-01-16	2004-08-11		ENSG00000185479	ENSG00000185479		"-", "Intermediate filaments type II, keratins (basic)"	6444	protein-coding gene	gene with protein product		148042	"keratin-like 1 (a type II keratin sequence)"	KRTL1		1713141, 16831889	Standard	NM_005555		Approved		uc001sak.3	P04259	OTTHUMG00000169593	ENST00000252252.3:c.544C>T	12.37:g.52844401G>A	ENSP00000252252:p.Arg182Trp						p.R182W	NM_005555.3	NP_005546.2	P04259	K2C6B_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.083)	2	591	-			182			Coil 1A.|Rod.		P48669	Missense_Mutation	SNP	ENST00000252252.3	37	c.544C>T	CCDS8828.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.241580	0.79912	.	.	ENSG00000185479	ENST00000252252;ENST00000544607	D	0.92595	-3.07	2.85	2.85	0.33270	Filament (1);	0.000000	0.56097	D	0.000035	D	0.96525	0.8866	M	0.91920	3.255	0.58432	D	0.999996	D	0.89917	1.0	D	0.97110	1.0	D	0.97371	0.9976	10	0.72032	D	0.01	.	14.9532	0.71091	0.0:0.0:1.0:0.0	.	182	P04259	K2C6B_HUMAN	W	182	ENSP00000252252:R182W	ENSP00000252252:R182W	R	-	1	2	KRT6B	51130668	0.999000	0.42202	0.980000	0.43619	0.939000	0.58152	3.052000	0.49893	1.918000	0.55548	0.454000	0.30748	CGG		0.557	KRT6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404969.1	NM_005555		9	56	0	0	0	1	0	9	56					A	52844401	G	A	52844401	3	1	435	1	0	0	0	0	1	0	0	0	8481	1086	38	1	1182	1	KRT6B	12	52844401	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	144828	52844401	81007494	5704	26629											
KRT73	319101	broad.mit.edu	37	chr12	53012272	53012272	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccgctgaagccccccttggCagcagctcccgacttgtagg	6	7	12	16	2	0	1	0	1	0	0	1	2	1	1	5	2	3	5	5	2	2	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:53012272C>T	ENST00000305748.3	-	1	71	c.37G>A	c.(37-39)Gcc>Acc	p.A13T		NM_175068.2	NP_778238.1	Q86Y46	K2C73_HUMAN	keratin 73	13	Gly-rich.|Head.					extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)|nucleus (GO:0005634)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44				BRCA - Breast invasive adenocarcinoma(357;0.189)		CCCCCCTTGGCAGCAGCTCCC	0.617																																						ENST00000305748.3																			0				NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						c.(37-39)Gcc>Acc		keratin 73							36	42	40					12																	53012272		2202	4299	6501	SO:0001583	missense	319101					keratin filament	structural molecule activity	g.chr12:53012272C>T	AJ508776	CCDS8834.1	12q13.13	2013-06-25			ENSG00000186049	ENSG00000186049		"-", "Intermediate filaments type II, keratins (basic)"	28928	protein-coding gene	gene with protein product		608247				12648212, 16831889	Standard	NM_175068		Approved	KRT6IRS3, K6IRS3	uc001sas.3	Q86Y46	OTTHUMG00000169746	ENST00000305748.3:c.37G>A	12.37:g.53012272C>T	ENSP00000307014:p.Ala13Thr						p.A13T	NM_175068.2	NP_778238.1	Q86Y46	K2C73_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.189)	1	71	-			13			Gly-rich.|Head.		Q32MB2	Missense_Mutation	SNP	ENST00000305748.3	37	c.37G>A	CCDS8834.1	.	.	.	.	.	.	.	.	.	.	C	4.368	0.067891	0.08436	.	.	ENSG00000186049	ENST00000305748	D	0.95949	-3.86	4.58	-7.81	0.01210	.	1.321610	0.05599	N	0.575982	D	0.86070	0.5845	N	0.17474	0.49	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.75952	-0.3136	10	0.27082	T	0.32	.	2.0544	0.03578	0.301:0.1717:0.0815:0.4458	.	13	Q86Y46	K2C73_HUMAN	T	13	ENSP00000307014:A13T	ENSP00000307014:A13T	A	-	1	0	KRT73	51298539	0.000000	0.05858	0.000000	0.03702	0.549000	0.35272	-3.972000	0.00322	-1.901000	0.01096	-0.302000	0.09304	GCC		0.617	KRT73-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405700.1	NM_175068		23	36	0	0	0	1	0	23	36					T	53012272	C	T	53012272	3	4	435	1	0	0	0	0	1	0	0	0	8486	710	25	3	1621	3	KRT73	12	53012272	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	167871	53012272	80839623	5705	26630											
KRT2	3849	broad.mit.edu	37	chr12	53042001	53042001	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcttccttgctcctctgggCgatctcctcatactgggcct	3	15	8	15	1	4	0	1	0	3	0	7	1	6	0	4	2	2	1	4	2	1	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:53042001C>T	ENST00000309680.3	-	5	1099	c.1078G>A	c.(1078-1080)Gcc>Acc	p.A360T		NM_000423.2	NP_000414.2	P35908	K22E_HUMAN	keratin 2	360	Coil 2.|Rod.				epidermis development (GO:0008544)|keratinization (GO:0031424)|keratinocyte activation (GO:0032980)|keratinocyte migration (GO:0051546)|keratinocyte proliferation (GO:0043616)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|keratin filament (GO:0045095)|membrane (GO:0016020)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)	p.A360S(2)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(18)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32				BRCA - Breast invasive adenocarcinoma(357;0.19)		CTCCTCTGGGCGATCTCCTCA	0.572																																						ENST00000309680.3																			2	Substitution - Missense(2)	p.A360S(2)	lung(2)	endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(18)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32						c.(1078-1080)Gcc>Acc		keratin 2							214	189	197					12																	53042001		2203	4300	6503	SO:0001583	missense	3849				keratinization|keratinocyte activation|keratinocyte migration|keratinocyte proliferation	Golgi apparatus|keratin filament	protein binding|structural constituent of cytoskeleton	g.chr12:53042001C>T		CCDS8835.1	12q13.13	2013-01-16	2008-08-01	2006-07-17	ENSG00000172867	ENSG00000172867		"-", "Intermediate filaments type II, keratins (basic)"	6439	protein-coding gene	gene with protein product	"epidermal ichthyosis bullosa of Siemens"	600194	"keratin 2A (epidermal ichthyosis bullosa of Siemens)"	KRT2A		7524919, 16831889	Standard	NM_000423		Approved	KRTE	uc001sat.3	P35908	OTTHUMG00000169748	ENST00000309680.3:c.1078G>A	12.37:g.53042001C>T	ENSP00000310861:p.Ala360Thr						p.A360T	NM_000423.2	NP_000414.2	P35908	K22E_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.19)	5	1099	-			360			Coil 2.|Rod.		Q4VAQ2	Missense_Mutation	SNP	ENST00000309680.3	37	c.1078G>A	CCDS8835.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.963279	0.74016	.	.	ENSG00000172867	ENST00000309680	T	0.79653	-1.29	4.52	4.52	0.55395	Filament (1);	.	.	.	.	D	0.88599	0.6480	M	0.86573	2.825	0.53688	D	0.999978	D	0.56521	0.976	P	0.54431	0.752	D	0.91013	0.4851	9	0.72032	D	0.01	.	17.8008	0.88586	0.0:1.0:0.0:0.0	.	360	P35908	K22E_HUMAN	T	360	ENSP00000310861:A360T	ENSP00000310861:A360T	A	-	1	0	KRT2	51328268	0.974000	0.33945	0.125000	0.21846	0.047000	0.14425	2.439000	0.44846	2.535000	0.85469	0.563000	0.77884	GCC		0.572	KRT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405704.1	NM_000423		31	59	0	0	0	1	0	31	59					T	53042001	C	T	53042001	3	4	435	1	0	0	0	0	1	0	0	0	8457	768	27	1	861	1	KRT2	12	53042001	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	29729	53042001	80809894	5706	26631											
KRT76	51350	broad.mit.edu	37	chr12	53165939	53165939	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gggcaatctcctcatactggGcgcggacctcggcaatgatg	8	8	13	12	3	2	1	1	1	1	0	4	2	2	2	2	4	1	2	2	4	3	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:53165939G>A	ENST00000332411.2	-	5	1129	c.1076C>T	c.(1075-1077)gCc>gTc	p.A359V		NM_015848.4	NP_056932.2	Q01546	K22O_HUMAN	keratin 76	359	Coil 2.|Rod.		A -> T (in dbSNP:rs6580904). {ECO:0000269|PubMed:1282112, ECO:0000269|PubMed:21269460}.		cytoskeleton organization (GO:0007010)	extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)|nucleus (GO:0005634)	structural molecule activity (GO:0005198)			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						CTCATACTGGGCGCGGACCTC	0.582																																						ENST00000332411.2																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(1075-1077)gCc>gTc		keratin 76							91	78	83					12																	53165939		2203	4300	6503	SO:0001583	missense	51350				cytoskeleton organization	keratin filament	structural molecule activity	g.chr12:53165939G>A	M99063	CCDS8838.1	12q13.13	2013-06-25			ENSG00000185069	ENSG00000185069		"-", "Intermediate filaments type II, keratins (basic)"	24430	protein-coding gene	gene with protein product						1282112, 16831889	Standard	NM_015848		Approved	HUMCYT2A, KRT2B, KRT2P	uc001sax.3	Q01546	OTTHUMG00000169797	ENST00000332411.2:c.1076C>T	12.37:g.53165939G>A	ENSP00000330101:p.Ala359Val						p.A359V	NM_015848.4	NP_056932.2	Q01546	K22O_HUMAN			5	1129	-			359		A -> T (in dbSNP:rs6580904).	Coil 2.|Rod.		B4DRR3|Q7Z795	Missense_Mutation	SNP	ENST00000332411.2	37	c.1076C>T	CCDS8838.1	.	.	.	.	.	.	.	.	.	.	G	15.86	2.957400	0.53400	.	.	ENSG00000185069	ENST00000332411	D	0.87729	-2.29	4.42	4.42	0.53409	Filament (1);	0.000000	0.44097	D	0.000486	D	0.92675	0.7672	M	0.78801	2.425	0.43271	D	0.995229	D	0.67145	0.996	D	0.70227	0.968	D	0.93369	0.6733	10	0.66056	D	0.02	.	14.7034	0.69171	0.0:0.1566:0.8434:0.0	.	359	Q01546	K22O_HUMAN	V	359	ENSP00000330101:A359V	ENSP00000330101:A359V	A	-	2	0	KRT76	51452206	0.100000	0.21855	0.993000	0.49108	0.176000	0.22953	2.610000	0.46325	2.398000	0.81561	0.462000	0.41574	GCC		0.582	KRT76-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405928.1	NM_015848		21	21	0	0	0	1	0	21	21					A	53165939	G	A	53165939	3	1	435	1	0	0	0	0	1	0	0	0	8489	1203	42	3	860	3	KRT76	12	53165939	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	123938	53165939	80685956	5707	26632											
KRT76	51350	broad.mit.edu	37	chr12	53170909	53170909	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgcccaggttgtagaggctgCgactgccaaagctgcctgct	7	9	13	12	1	0	1	0	0	0	1	0	2	0	1	3	2	6	5	3	2	2	2	rs575967584		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:53170909C>T	ENST00000332411.2	-	1	220	c.167G>A	c.(166-168)cGc>cAc	p.R56H		NM_015848.4	NP_056932.2	Q01546	K22O_HUMAN	keratin 76	56	Head.				cytoskeleton organization (GO:0007010)	extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)|nucleus (GO:0005634)	structural molecule activity (GO:0005198)			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						GTAGAGGCTGCGACTGCCAAA	0.672													C|||	1	0.000199681	8e-04	0	5008	,	,		15710	0		0	False		,,,				2504	0					ENST00000332411.2																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(166-168)cGc>cAc		keratin 76							79	101	94					12																	53170909		2203	4300	6503	SO:0001583	missense	51350				cytoskeleton organization	keratin filament	structural molecule activity	g.chr12:53170909C>T	M99063	CCDS8838.1	12q13.13	2013-06-25			ENSG00000185069	ENSG00000185069		"-", "Intermediate filaments type II, keratins (basic)"	24430	protein-coding gene	gene with protein product						1282112, 16831889	Standard	NM_015848		Approved	HUMCYT2A, KRT2B, KRT2P	uc001sax.3	Q01546	OTTHUMG00000169797	ENST00000332411.2:c.167G>A	12.37:g.53170909C>T	ENSP00000330101:p.Arg56His						p.R56H	NM_015848.4	NP_056932.2	Q01546	K22O_HUMAN			1	220	-			56			Head.		B4DRR3|Q7Z795	Missense_Mutation	SNP	ENST00000332411.2	37	c.167G>A	CCDS8838.1	.	.	.	.	.	.	.	.	.	.	c	12.34	1.910085	0.33721	.	.	ENSG00000185069	ENST00000332411	D	0.85702	-2.02	4.47	-4.05	0.03998	.	0.938675	0.08869	N	0.881819	T	0.78509	0.4294	L	0.53729	1.69	0.19300	N	0.999972	B	0.13594	0.008	B	0.06405	0.002	T	0.64179	-0.6468	10	0.56958	D	0.05	.	7.6108	0.28129	0.1102:0.3299:0.0:0.5599	.	56	Q01546	K22O_HUMAN	H	56	ENSP00000330101:R56H	ENSP00000330101:R56H	R	-	2	0	KRT76	51457176	0.000000	0.05858	0.033000	0.17914	0.907000	0.53573	-0.101000	0.10973	-0.905000	0.03871	0.555000	0.69702	CGC		0.672	KRT76-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405928.1	NM_015848		31	47	0	0	0	1	0	31	47					T	53170909	C	T	53170909	3	4	435	1	0	0	0	0	1	0	0	0	8489	768	27	1	1785	1	KRT76	12	53170909	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	4970	53170909	80680986	5708	26633											
KRT3	3850	broad.mit.edu	37	chr12	53185103	53185103	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agccgcgccaggtcatccttCgcctgctgtagagcagcctg	6	8	12	15	3	1	1	1	0	0	1	3	1	2	1	5	1	4	3	5	1	1	2	rs368969102		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:53185103C>T	ENST00000417996.2	-	7	1496	c.1422G>A	c.(1420-1422)gcG>gcA	p.A474A	KRT3_ENST00000309505.3_Silent_p.A474A	NM_057088.2	NP_476429.2	P12035	K2C3_HUMAN	keratin 3	474	Coil 2.|Rod.				epithelial cell differentiation (GO:0030855)|intermediate filament cytoskeleton organization (GO:0045104)	extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			NS(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|skin(1)	23						GGTCATCCTTCGCCTGCTGTA	0.617																																						ENST00000417996.2																			0				NS(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|skin(1)	23						c.(1420-1422)gcG>gcA		keratin 3		T		0,4406		0,0,2203	88	85	86		1422	0.8	1	12		86	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	KRT3	NM_057088.2		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		474/629	53185103	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	3850				epithelial cell differentiation|intermediate filament cytoskeleton organization	keratin filament	structural molecule activity	g.chr12:53185103C>T		CCDS44895.1	12q13.13	2013-01-16			ENSG00000186442	ENSG00000186442		"-", "Intermediate filaments type II, keratins (basic)"	6440	protein-coding gene	gene with protein product	"keratin, type II cytoskeletal 3", "cytokeratin 3"	148043				7510223, 16831889	Standard	NM_057088		Approved	CK3, K3	uc001say.3	P12035	OTTHUMG00000169799	ENST00000417996.2:c.1422G>A	12.37:g.53185103C>T						KRT3_ENST00000309505.3_Silent_p.A474A	p.A474A	NM_057088.2	NP_476429.2	P12035	K2C3_HUMAN			7	1496	-			474			Coil 2.|Rod.		A6NIS2|Q701L8	Silent	SNP	ENST00000417996.2	37	c.1422G>A	CCDS44895.1																																																																																				0.617	KRT3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000405930.1	NM_057088		42	76	0	0	0	1	0	42	76					T	53185103	C	T	53185103	2	4	435	1	0	0	0	0	0	0	0	1	8466	871	31	2		2	KRT3	12	53185103	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	14194	53185103	80666792	5709	26634											
KRT3	3850	broad.mit.edu	37	chr12	53187986	53187986	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gatgttgtccaggtagctccGcaggtagttgatgtgattct	7	14	13	7	1	1	2	0	2	1	0	3	3	3	2	2	2	1	6	2	2	2	5	rs201818737		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:53187986G>A	ENST00000417996.2	-	2	849	c.775C>T	c.(775-777)Cgg>Tgg	p.R259W	KRT3_ENST00000309505.3_Missense_Mutation_p.R259W	NM_057088.2	NP_476429.2	P12035	K2C3_HUMAN	keratin 3	259	Coil 1B.|Rod.				epithelial cell differentiation (GO:0030855)|intermediate filament cytoskeleton organization (GO:0045104)	extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			NS(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|skin(1)	23						AGGTAGCTCCGCAGGTAGTTG	0.537													G|||	1	0.000199681	8e-04	0	5008	,	,		22279	0		0	False		,,,				2504	0					ENST00000417996.2																			0				NS(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|skin(1)	23						c.(775-777)Cgg>Tgg		keratin 3		G	TRP/ARG	0,4372		0,0,2186	162	179	173		775	2.8	0	12		173	1,8591	1.2+/-3.3	0,1,4295	no	missense	KRT3	NM_057088.2	101	0,1,6481	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging	259/629	53187986	1,12963	2186	4296	6482	SO:0001583	missense	3850				epithelial cell differentiation|intermediate filament cytoskeleton organization	keratin filament	structural molecule activity	g.chr12:53187986G>A		CCDS44895.1	12q13.13	2013-01-16			ENSG00000186442	ENSG00000186442		"-", "Intermediate filaments type II, keratins (basic)"	6440	protein-coding gene	gene with protein product	"keratin, type II cytoskeletal 3", "cytokeratin 3"	148043				7510223, 16831889	Standard	NM_057088		Approved	CK3, K3	uc001say.3	P12035	OTTHUMG00000169799	ENST00000417996.2:c.775C>T	12.37:g.53187986G>A	ENSP00000413479:p.Arg259Trp					KRT3_ENST00000309505.3_Missense_Mutation_p.R259W	p.R259W	NM_057088.2	NP_476429.2	P12035	K2C3_HUMAN			2	849	-			259			Coil 1B.|Rod.		A6NIS2|Q701L8	Missense_Mutation	SNP	ENST00000417996.2	37	c.775C>T	CCDS44895.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	15.96	2.985984	0.53934	0.0	1.16E-4	ENSG00000186442	ENST00000417996;ENST00000309505	D;D	0.93019	-3.15;-3.15	4.69	2.8	0.32819	Filament (1);	0.000000	0.42420	D	0.000715	D	0.96405	0.8827	M	0.93241	3.395	0.36217	D	0.851739	D	0.60575	0.988	P	0.54856	0.762	D	0.98860	1.0762	10	0.72032	D	0.01	.	13.9315	0.63998	0.0:0.0:0.4454:0.5545	.	259	P12035	K2C3_HUMAN	W	259	ENSP00000413479:R259W;ENSP00000312206:R259W	ENSP00000312206:R259W	R	-	1	2	KRT3	51474253	0.000000	0.05858	0.009000	0.14445	0.821000	0.46438	0.153000	0.16323	0.673000	0.31224	-0.181000	0.13052	CGG		0.537	KRT3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000405930.1	NM_057088		27	98	0	0	0	1	0	27	98					A	53187986	G	A	53187986	3	1	435	1	0	0	0	0	1	0	0	0	8466	1086	38	1	1143	1	KRT3	12	53187986	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	2883	53187986	80663909	5710	26635											
EIF4B	1975	broad.mit.edu	37	chr12	53412636	53412636	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtatagggcgcctccaattgAccgttccatccttcccactg	7	11	8	15	2	0	1	0	1	0	0	4	1	4	1	6	1	0	2	6	1	3	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:53412636A>G	ENST00000262056.9	+	3	532	c.206A>G	c.(205-207)gAc>gGc	p.D69G	EIF4B_ENST00000416762.3_Missense_Mutation_p.D69G|RP11-983P16.4_ENST00000552905.1_RNA|EIF4B_ENST00000551527.1_3'UTR|RP11-983P16.4_ENST00000549388.1_RNA|EIF4B_ENST00000420463.3_Missense_Mutation_p.D69G	NM_001417.4	NP_001408.2	P23588	IF4B_HUMAN	eukaryotic translation initiation factor 4B	69					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|insulin receptor signaling pathway (GO:0008286)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|regulation of translational initiation (GO:0006446)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational initiation (GO:0006413)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|translation initiation factor activity (GO:0003743)			breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)	22						CCTCCAATTGACCGTTCCATC	0.498																																						ENST00000262056.9																			0				breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)	22						c.(205-207)gAc>gGc		eukaryotic translation initiation factor 4B							103	96	98					12																	53412636		1914	4123	6037	SO:0001583	missense	1975				insulin receptor signaling pathway|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	nucleotide binding|translation initiation factor activity	g.chr12:53412636A>G	X55733	CCDS41788.1, CCDS73474.1	12q13.13	2013-02-12			ENSG00000063046	ENSG00000063046		"RNA binding motif (RRM) containing"	3285	protein-coding gene	gene with protein product		603928					Standard	XM_005268709		Approved		uc001sbh.4	P23588	OTTHUMG00000169570	ENST00000262056.9:c.206A>G	12.37:g.53412636A>G	ENSP00000262056:p.Asp69Gly					EIF4B_ENST00000420463.3_Missense_Mutation_p.D69G|RP11-983P16.4_ENST00000552905.1_RNA|EIF4B_ENST00000416762.3_Missense_Mutation_p.D69G|RP11-983P16.4_ENST00000549388.1_RNA|EIF4B_ENST00000551527.1_3'UTR	p.D69G	NM_001417.4	NP_001408.2	P23588	IF4B_HUMAN			3	532	+			69					Q4G0E3|Q53HQ2|Q6GPH5|Q6IB46|Q8WYK5	Missense_Mutation	SNP	ENST00000262056.9	37	c.206A>G	CCDS41788.1	.	.	.	.	.	.	.	.	.	.	A	27.7	4.857028	0.91433	.	.	ENSG00000063046	ENST00000262056;ENST00000551002;ENST00000420463;ENST00000430205;ENST00000416762;ENST00000549481;ENST00000552490	D;D;D;D;D;D	0.94417	-3.42;-3.42;-3.42;-3.42;-3.42;-3.42	4.67	4.67	0.58626	.	0.000000	0.85682	D	0.000000	D	0.96688	0.8919	M	0.79475	2.455	0.58432	D	0.999998	D;D;D	0.67145	0.996;0.993;0.993	D;D;D	0.77557	0.99;0.977;0.977	D	0.96219	0.9159	10	0.40728	T	0.16	.	13.6334	0.62208	1.0:0.0:0.0:0.0	.	69;69;69	B4DS13;E7EX17;P23588	.;.;IF4B_HUMAN	G	69;23;69;69;69;69;69	ENSP00000262056:D69G;ENSP00000447192:D23G;ENSP00000388806:D69G;ENSP00000412530:D69G;ENSP00000449746:D69G;ENSP00000450324:D69G	ENSP00000262056:D69G	D	+	2	0	EIF4B	51698903	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	9.128000	0.94424	2.038000	0.60285	0.482000	0.46254	GAC		0.498	EIF4B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000404852.2	NM_001417		5	87	0	0	0	1	0	5	87					G	53412636	A	G	53412636	3	3	435	1	0	0	0	0	1	0	0	0	5027	275	10	4	216	4	EIF4B	12	53412636	Missense_Mutation	SNP	A	TCGA-XK-AAIW-01A-11D-A41K-08	224650	53412636	80439259	5711	26636											
EIF4B	1975	broad.mit.edu	37	chr12	53421650	53421650	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cccacgccgggatatggatcGatatggtggccgggatcgct	7	8	15	11	5	0	0	0	0	0	0	2	4	0	3	3	5	0	1	3	5	2	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:53421650G>A	ENST00000262056.9	+	7	1078	c.752G>A	c.(751-753)cGa>cAa	p.R251Q	EIF4B_ENST00000416762.3_Missense_Mutation_p.R212Q|RP11-983P16.4_ENST00000552905.1_RNA|EIF4B_ENST00000420463.3_Missense_Mutation_p.R251Q	NM_001417.4	NP_001408.2	P23588	IF4B_HUMAN	eukaryotic translation initiation factor 4B	251	Arg-rich.|Asp-rich.				cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|insulin receptor signaling pathway (GO:0008286)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|regulation of translational initiation (GO:0006446)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational initiation (GO:0006413)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|translation initiation factor activity (GO:0003743)			breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)	22						GATATGGATCGATATGGTGGC	0.483																																						ENST00000262056.9																			0				breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)	22						c.(751-753)cGa>cAa		eukaryotic translation initiation factor 4B							86	82	83					12																	53421650		1914	4118	6032	SO:0001583	missense	1975				insulin receptor signaling pathway|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	nucleotide binding|translation initiation factor activity	g.chr12:53421650G>A	X55733	CCDS41788.1, CCDS73474.1	12q13.13	2013-02-12			ENSG00000063046	ENSG00000063046		"RNA binding motif (RRM) containing"	3285	protein-coding gene	gene with protein product		603928					Standard	XM_005268709		Approved		uc001sbh.4	P23588	OTTHUMG00000169570	ENST00000262056.9:c.752G>A	12.37:g.53421650G>A	ENSP00000262056:p.Arg251Gln					EIF4B_ENST00000420463.3_Missense_Mutation_p.R251Q|RP11-983P16.4_ENST00000552905.1_RNA|EIF4B_ENST00000416762.3_Missense_Mutation_p.R212Q	p.R251Q	NM_001417.4	NP_001408.2	P23588	IF4B_HUMAN			7	1078	+			251			Arg-rich.|Asp-rich.		Q4G0E3|Q53HQ2|Q6GPH5|Q6IB46|Q8WYK5	Missense_Mutation	SNP	ENST00000262056.9	37	c.752G>A	CCDS41788.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.03|18.03	3.533319|3.533319	0.64972|0.64972	.|.	.|.	ENSG00000063046|ENSG00000063046	ENST00000430205|ENST00000262056;ENST00000420463;ENST00000416762;ENST00000549481	.|T;T;T	.|0.54479	.|0.57;0.59;0.63	4.62|4.62	2.78|2.78	0.32641|0.32641	.|.	.|0.000000	.|0.64402	.|D	.|0.000002	.|T	.|0.37100	.|0.0991	L|L	0.52573|0.52573	1.65|1.65	0.40823|0.40823	D|D	0.983525|0.983525	.|B;B;B;B	.|0.31209	.|0.038;0.023;0.313;0.023	.|B;B;B;B	.|0.14578	.|0.009;0.004;0.011;0.004	.|T	.|0.17319	.|-1.0373	.|10	.|0.11485	.|T	.|0.65	.|.	9.5277|9.5277	0.39173|0.39173	0.1797:0.0:0.8203:0.0|0.1797:0.0:0.8203:0.0	.|.	.|212;251;227;251	.|B4DS13;E7EX17;E7EPC9;P23588	.|.;.;.;IF4B_HUMAN	.|Q	-1|251;251;212;206	.|ENSP00000262056:R251Q;ENSP00000388806:R251Q;ENSP00000449746:R206Q	.|ENSP00000262056:R251Q	.|R	+|+	.|2	.|0	EIF4B|EIF4B	51707917|51707917	1.000000|1.000000	0.71417|0.71417	0.570000|0.570000	0.28473|0.28473	0.894000|0.894000	0.52154|0.52154	6.054000|6.054000	0.71096|0.71096	1.252000|1.252000	0.44001|0.44001	0.655000|0.655000	0.94253|0.94253	.|CGA		0.483	EIF4B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000404852.2	NM_001417		16	21	0	0	0	1	0	16	21					A	53421650	G	A	53421650	3	1	435	1	0	0	0	0	1	0	0	0	5027	1058	37	2	778	2	EIF4B	12	53421650	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	9014	53421650	80430245	5712	26637											
TENC1	23371	broad.mit.edu	37	chr12	53445691	53445691	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaggttttccggaagaaacCtccagtctgtgcagtatgta	11	11	11	8	1	1	1	0	0	1	1	3	3	3	2	3	2	2	4	3	2	5	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:53445691C>A	ENST00000314250.6	+	2	418	c.128C>A	c.(127-129)cCt>cAt	p.P43H	TENC1_ENST00000451358.1_Missense_Mutation_p.P43H|TENC1_ENST00000379902.3_5'UTR|TENC1_ENST00000552570.1_Missense_Mutation_p.P43H|TENC1_ENST00000549700.1_Missense_Mutation_p.P43H|RP11-983P16.4_ENST00000546793.1_RNA|RP11-983P16.4_ENST00000551890.1_RNA|RP11-983P16.4_ENST00000550601.1_RNA|TENC1_ENST00000314276.3_Missense_Mutation_p.P53H|TENC1_ENST00000546602.1_Missense_Mutation_p.P43H	NM_170754.2	NP_736610.2	Q63HR2	TENC1_HUMAN	tensin like C1 domain containing phosphatase (tensin 2)	43					cellular homeostasis (GO:0019725)|collagen metabolic process (GO:0032963)|intracellular signal transduction (GO:0035556)|kidney development (GO:0001822)|multicellular organism growth (GO:0035264)|multicellular organismal homeostasis (GO:0048871)|negative regulation of cell proliferation (GO:0008285)|response to muscle activity (GO:0014850)	focal adhesion (GO:0005925)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|phosphoprotein phosphatase activity (GO:0004721)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(19)|ovary(1)|pancreas(1)|stomach(3)	34						CGGAAGAAACCTCCAGTCTGT	0.557																																						ENST00000314250.6																			0				central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(19)|ovary(1)|pancreas(1)|stomach(3)	34						c.(127-129)cCt>cAt		tensin like C1 domain containing phosphatase (tensin 2)							210	178	189					12																	53445691		2203	4300	6503	SO:0001583	missense	23371				intracellular signal transduction|negative regulation of cell proliferation	focal adhesion	metal ion binding|phosphoprotein phosphatase activity|protein binding	g.chr12:53445691C>A	AF518729	CCDS8842.1, CCDS8843.1, CCDS8844.1	12q13.13	2013-02-14	2004-03-05			ENSG00000111077		"Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs", "SH2 domain containing"	19737	protein-coding gene	gene with protein product	"tensin 2"	607717	"tensin like C1 domain-containing phosphatase"				Standard	NM_015319		Approved	KIAA1075, C1-TEN, TNS2	uc001sbp.3	Q63HR2	OTTHUMG00000169730	ENST00000314250.6:c.128C>A	12.37:g.53445691C>A	ENSP00000319684:p.Pro43His					TENC1_ENST00000451358.1_Missense_Mutation_p.P43H|RP11-983P16.4_ENST00000550601.1_RNA|RP11-983P16.4_ENST00000546793.1_RNA|TENC1_ENST00000546602.1_Missense_Mutation_p.P43H|TENC1_ENST00000549700.1_Missense_Mutation_p.P43H|TENC1_ENST00000552570.1_Missense_Mutation_p.P43H|TENC1_ENST00000379902.3_5'UTR|TENC1_ENST00000314276.3_Missense_Mutation_p.P53H	p.P43H	NM_170754.2	NP_736610.2	Q63HR2	TENC1_HUMAN			2	418	+			43					A2VDF2|A2VDF3|A2VDI8|A5PKY4|Q2NL80|Q76MW6|Q7Z5T9|Q8NFF9|Q8NFG0|Q96P25|Q9NT29|Q9UPS7	Missense_Mutation	SNP	ENST00000314250.6	37	c.128C>A	CCDS8843.1	.	.	.	.	.	.	.	.	.	.	C	19.93	3.918824	0.73098	.	.	ENSG00000111077	ENST00000314276;ENST00000314250;ENST00000451358;ENST00000443113;ENST00000546602;ENST00000552570;ENST00000549700	D;D;D;D;D;D	0.86097	-2.07;-2.07;-2.07;-2.07;-2.07;-2.07	5.36	4.46	0.54185	Protein kinase C-like, phorbol ester/diacylglycerol binding (3);	0.791679	0.11199	N	0.589071	D	0.88055	0.6334	L	0.53671	1.685	0.23784	N	0.996851	B;B;P;D	0.61697	0.214;0.115;0.8;0.99	B;B;B;P	0.56823	0.111;0.16;0.421;0.807	T	0.78102	-0.2335	10	0.72032	D	0.01	-11.4232	10.2675	0.43464	0.0:0.9078:0.0:0.0922	.	43;43;53;20	Q63HR2;F8W661;Q63HR2-4;Q6ZMJ1	TENC1_HUMAN;.;.;.	H	53;43;43;43;43;43;43	ENSP00000319756:P53H;ENSP00000319684:P43H;ENSP00000393362:P43H;ENSP00000449363:P43H;ENSP00000447021:P43H;ENSP00000449361:P43H	ENSP00000319684:P43H	P	+	2	0	TENC1	51731958	0.020000	0.18652	0.980000	0.43619	0.999000	0.98932	1.260000	0.32968	1.388000	0.46506	0.655000	0.94253	CCT		0.557	TENC1-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000405779.1	NM_170754		26	34	1	0	2.61193e-14	1	2.84738e-14	26	34					A	53445691	C	A	53445691	3	1	435	1	0	0	0	0	1	0	0	0	15755	681	24	5	243	5	TENC1	12	53445691	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	24041	53445691	80406204	5713	26638											
TENC1	23371	broad.mit.edu	37	chr12	53445735	53445735	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgaccatcgatgggacaggcGtttcgtgcagaggtgaggct	8	9	16	8	3	0	3	0	2	0	1	2	5	0	4	1	4	1	3	1	4	0	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:53445735G>A	ENST00000314250.6	+	2	462	c.172G>A	c.(172-174)Gtt>Att	p.V58I	TENC1_ENST00000451358.1_Missense_Mutation_p.V58I|TENC1_ENST00000379902.3_5'UTR|TENC1_ENST00000552570.1_Missense_Mutation_p.V58I|TENC1_ENST00000549700.1_Missense_Mutation_p.V58I|RP11-983P16.4_ENST00000546793.1_RNA|RP11-983P16.4_ENST00000551890.1_RNA|RP11-983P16.4_ENST00000550601.1_RNA|TENC1_ENST00000314276.3_Missense_Mutation_p.V68I|TENC1_ENST00000546602.1_Missense_Mutation_p.V58I	NM_170754.2	NP_736610.2	Q63HR2	TENC1_HUMAN	tensin like C1 domain containing phosphatase (tensin 2)	58					cellular homeostasis (GO:0019725)|collagen metabolic process (GO:0032963)|intracellular signal transduction (GO:0035556)|kidney development (GO:0001822)|multicellular organism growth (GO:0035264)|multicellular organismal homeostasis (GO:0048871)|negative regulation of cell proliferation (GO:0008285)|response to muscle activity (GO:0014850)	focal adhesion (GO:0005925)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|phosphoprotein phosphatase activity (GO:0004721)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(19)|ovary(1)|pancreas(1)|stomach(3)	34						TGGGACAGGCGTTTCGTGCAG	0.542																																						ENST00000314250.6																			0				central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(19)|ovary(1)|pancreas(1)|stomach(3)	34						c.(172-174)Gtt>Att		tensin like C1 domain containing phosphatase (tensin 2)							220	177	191					12																	53445735		2203	4300	6503	SO:0001583	missense	23371				intracellular signal transduction|negative regulation of cell proliferation	focal adhesion	metal ion binding|phosphoprotein phosphatase activity|protein binding	g.chr12:53445735G>A	AF518729	CCDS8842.1, CCDS8843.1, CCDS8844.1	12q13.13	2013-02-14	2004-03-05			ENSG00000111077		"Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs", "SH2 domain containing"	19737	protein-coding gene	gene with protein product	"tensin 2"	607717	"tensin like C1 domain-containing phosphatase"				Standard	NM_015319		Approved	KIAA1075, C1-TEN, TNS2	uc001sbp.3	Q63HR2	OTTHUMG00000169730	ENST00000314250.6:c.172G>A	12.37:g.53445735G>A	ENSP00000319684:p.Val58Ile					TENC1_ENST00000451358.1_Missense_Mutation_p.V58I|RP11-983P16.4_ENST00000550601.1_RNA|RP11-983P16.4_ENST00000546793.1_RNA|TENC1_ENST00000546602.1_Missense_Mutation_p.V58I|TENC1_ENST00000549700.1_Missense_Mutation_p.V58I|TENC1_ENST00000552570.1_Missense_Mutation_p.V58I|TENC1_ENST00000379902.3_5'UTR|TENC1_ENST00000314276.3_Missense_Mutation_p.V68I	p.V58I	NM_170754.2	NP_736610.2	Q63HR2	TENC1_HUMAN			2	462	+			58					A2VDF2|A2VDF3|A2VDI8|A5PKY4|Q2NL80|Q76MW6|Q7Z5T9|Q8NFF9|Q8NFG0|Q96P25|Q9NT29|Q9UPS7	Missense_Mutation	SNP	ENST00000314250.6	37	c.172G>A	CCDS8843.1	.	.	.	.	.	.	.	.	.	.	G	14.07	2.424930	0.43020	.	.	ENSG00000111077	ENST00000314276;ENST00000314250;ENST00000451358;ENST00000443113;ENST00000546602;ENST00000552570;ENST00000549700	D;D;D;D;D;D	0.84442	-1.85;-1.85;-1.85;-1.85;-1.85;-1.85	5.36	1.07	0.20283	Protein kinase C-like, phorbol ester/diacylglycerol binding (3);	0.361989	0.22016	N	0.065787	T	0.65780	0.2724	N	0.11201	0.11	0.09310	N	0.999998	B;B;B;B	0.19935	0.023;0.04;0.038;0.009	B;B;B;B	0.12837	0.003;0.006;0.008;0.007	T	0.53351	-0.8451	10	0.35671	T	0.21	-10.1651	4.6222	0.12461	0.2705:0.2034:0.5261:0.0	.	58;58;68;35	Q63HR2;F8W661;Q63HR2-4;Q6ZMJ1	TENC1_HUMAN;.;.;.	I	68;58;58;58;58;58;58	ENSP00000319756:V68I;ENSP00000319684:V58I;ENSP00000393362:V58I;ENSP00000449363:V58I;ENSP00000447021:V58I;ENSP00000449361:V58I	ENSP00000319684:V58I	V	+	1	0	TENC1	51732002	0.913000	0.31002	0.986000	0.45419	0.841000	0.47740	0.774000	0.26675	0.356000	0.24157	-0.119000	0.15052	GTT		0.542	TENC1-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000405779.1	NM_170754		15	34	0	0	0	1	0	15	34					A	53445735	G	A	53445735	3	1	435	1	0	0	0	0	1	0	0	0	15755	1145	40	1	287	1	TENC1	12	53445735	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	44	53445735	80406160	5714	26639											
TENC1	23371	broad.mit.edu	37	chr12	53452870	53452870	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gggtcccctggatggcagtcCttatgcccaggtgcagcggc	5	8	15	13	1	0	0	0	0	0	0	2	1	2	1	4	5	3	2	4	5	1	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:53452870C>A	ENST00000314250.6	+	18	1735	c.1445C>A	c.(1444-1446)cCt>cAt	p.P482H	TENC1_ENST00000451358.1_Missense_Mutation_p.P482H|TENC1_ENST00000379902.3_Missense_Mutation_p.P358H|TENC1_ENST00000552570.1_Missense_Mutation_p.P482H|TENC1_ENST00000549700.1_Missense_Mutation_p.P482H|TENC1_ENST00000314276.3_Missense_Mutation_p.P492H|TENC1_ENST00000546602.1_Missense_Mutation_p.P482H	NM_170754.2	NP_736610.2	Q63HR2	TENC1_HUMAN	tensin like C1 domain containing phosphatase (tensin 2)	482					cellular homeostasis (GO:0019725)|collagen metabolic process (GO:0032963)|intracellular signal transduction (GO:0035556)|kidney development (GO:0001822)|multicellular organism growth (GO:0035264)|multicellular organismal homeostasis (GO:0048871)|negative regulation of cell proliferation (GO:0008285)|response to muscle activity (GO:0014850)	focal adhesion (GO:0005925)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|phosphoprotein phosphatase activity (GO:0004721)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(19)|ovary(1)|pancreas(1)|stomach(3)	34						GATGGCAGTCCTTATGCCCAG	0.667																																						ENST00000314250.6																			0				central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(19)|ovary(1)|pancreas(1)|stomach(3)	34						c.(1444-1446)cCt>cAt		tensin like C1 domain containing phosphatase (tensin 2)							50	58	55					12																	53452870		2203	4300	6503	SO:0001583	missense	23371				intracellular signal transduction|negative regulation of cell proliferation	focal adhesion	metal ion binding|phosphoprotein phosphatase activity|protein binding	g.chr12:53452870C>A	AF518729	CCDS8842.1, CCDS8843.1, CCDS8844.1	12q13.13	2013-02-14	2004-03-05			ENSG00000111077		"Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs", "SH2 domain containing"	19737	protein-coding gene	gene with protein product	"tensin 2"	607717	"tensin like C1 domain-containing phosphatase"				Standard	NM_015319		Approved	KIAA1075, C1-TEN, TNS2	uc001sbp.3	Q63HR2	OTTHUMG00000169730	ENST00000314250.6:c.1445C>A	12.37:g.53452870C>A	ENSP00000319684:p.Pro482His					TENC1_ENST00000451358.1_Missense_Mutation_p.P482H|TENC1_ENST00000546602.1_Missense_Mutation_p.P482H|TENC1_ENST00000549700.1_Missense_Mutation_p.P482H|TENC1_ENST00000552570.1_Missense_Mutation_p.P482H|TENC1_ENST00000379902.3_Missense_Mutation_p.P358H|TENC1_ENST00000314276.3_Missense_Mutation_p.P492H	p.P482H	NM_170754.2	NP_736610.2	Q63HR2	TENC1_HUMAN			18	1735	+			482					A2VDF2|A2VDF3|A2VDI8|A5PKY4|Q2NL80|Q76MW6|Q7Z5T9|Q8NFF9|Q8NFG0|Q96P25|Q9NT29|Q9UPS7	Missense_Mutation	SNP	ENST00000314250.6	37	c.1445C>A	CCDS8843.1	.	.	.	.	.	.	.	.	.	.	C	19.54	3.846039	0.71603	.	.	ENSG00000111077	ENST00000379902;ENST00000314276;ENST00000314250;ENST00000451358;ENST00000443113;ENST00000546602;ENST00000552570;ENST00000549700	D;D;D;D;D;D;D	0.94417	-3.41;-3.42;-3.41;-3.41;-3.41;-3.41;-3.42	4.74	4.74	0.60224	.	0.076668	0.56097	D	0.000040	D	0.92208	0.7529	N	0.08118	0	0.35425	D	0.793549	D;D	0.76494	0.999;0.999	D;D	0.71870	0.945;0.975	D	0.93562	0.6896	10	0.62326	D	0.03	.	9.2829	0.37740	0.0:0.9004:0.0:0.0996	.	482;492	Q63HR2;Q63HR2-4	TENC1_HUMAN;.	H	358;492;482;482;482;482;482;482	ENSP00000369232:P358H;ENSP00000319756:P492H;ENSP00000319684:P482H;ENSP00000393362:P482H;ENSP00000449363:P482H;ENSP00000447021:P482H;ENSP00000449361:P482H	ENSP00000319684:P482H	P	+	2	0	TENC1	51739137	0.994000	0.37717	1.000000	0.80357	0.981000	0.71138	2.686000	0.46968	2.357000	0.79964	0.561000	0.74099	CCT		0.667	TENC1-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000405779.1	NM_170754		39	35	1	0	4.17593e-13	1	4.53019e-13	39	35					A	53452870	C	A	53452870	3	1	435	1	0	0	0	0	1	0	0	0	15755	681	24	5	1624	5	TENC1	12	53452870	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	7135	53452870	80399025	5715	26640											
TENC1	23371	broad.mit.edu	37	chr12	53453257	53453257	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcccaatgggggctactaccGgccagagggaaccctggaga	10	5	14	12	1	0	2	0	0	0	2	1	4	1	3	4	5	3	1	4	5	4	2	rs541818683		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:53453257G>A	ENST00000314250.6	+	18	2122	c.1832G>A	c.(1831-1833)cGg>cAg	p.R611Q	TENC1_ENST00000451358.1_Missense_Mutation_p.R611Q|TENC1_ENST00000379902.3_Missense_Mutation_p.R487Q|TENC1_ENST00000552570.1_Missense_Mutation_p.R611Q|TENC1_ENST00000549700.1_Missense_Mutation_p.R611Q|TENC1_ENST00000314276.3_Missense_Mutation_p.R621Q|TENC1_ENST00000546602.1_Missense_Mutation_p.R611Q	NM_170754.2	NP_736610.2	Q63HR2	TENC1_HUMAN	tensin like C1 domain containing phosphatase (tensin 2)	611					cellular homeostasis (GO:0019725)|collagen metabolic process (GO:0032963)|intracellular signal transduction (GO:0035556)|kidney development (GO:0001822)|multicellular organism growth (GO:0035264)|multicellular organismal homeostasis (GO:0048871)|negative regulation of cell proliferation (GO:0008285)|response to muscle activity (GO:0014850)	focal adhesion (GO:0005925)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|phosphoprotein phosphatase activity (GO:0004721)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(19)|ovary(1)|pancreas(1)|stomach(3)	34						GGCTACTACCGGCCAGAGGGA	0.692													G|||	1	0.000199681	0	0	5008	,	,		14726	0		0	False		,,,				2504	0.001					ENST00000314250.6																			0				central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(19)|ovary(1)|pancreas(1)|stomach(3)	34						c.(1831-1833)cGg>cAg		tensin like C1 domain containing phosphatase (tensin 2)							6	7	7					12																	53453257		2075	4165	6240	SO:0001583	missense	23371				intracellular signal transduction|negative regulation of cell proliferation	focal adhesion	metal ion binding|phosphoprotein phosphatase activity|protein binding	g.chr12:53453257G>A	AF518729	CCDS8842.1, CCDS8843.1, CCDS8844.1	12q13.13	2013-02-14	2004-03-05			ENSG00000111077		"Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs", "SH2 domain containing"	19737	protein-coding gene	gene with protein product	"tensin 2"	607717	"tensin like C1 domain-containing phosphatase"				Standard	NM_015319		Approved	KIAA1075, C1-TEN, TNS2	uc001sbp.3	Q63HR2	OTTHUMG00000169730	ENST00000314250.6:c.1832G>A	12.37:g.53453257G>A	ENSP00000319684:p.Arg611Gln					TENC1_ENST00000451358.1_Missense_Mutation_p.R611Q|TENC1_ENST00000546602.1_Missense_Mutation_p.R611Q|TENC1_ENST00000549700.1_Missense_Mutation_p.R611Q|TENC1_ENST00000552570.1_Missense_Mutation_p.R611Q|TENC1_ENST00000379902.3_Missense_Mutation_p.R487Q|TENC1_ENST00000314276.3_Missense_Mutation_p.R621Q	p.R611Q	NM_170754.2	NP_736610.2	Q63HR2	TENC1_HUMAN			18	2122	+			611					A2VDF2|A2VDF3|A2VDI8|A5PKY4|Q2NL80|Q76MW6|Q7Z5T9|Q8NFF9|Q8NFG0|Q96P25|Q9NT29|Q9UPS7	Missense_Mutation	SNP	ENST00000314250.6	37	c.1832G>A	CCDS8843.1	.	.	.	.	.	.	.	.	.	.	G	14.50	2.554205	0.45487	.	.	ENSG00000111077	ENST00000379902;ENST00000314276;ENST00000314250;ENST00000451358;ENST00000443113;ENST00000546602;ENST00000552570;ENST00000549700	D;D;D;D;D;D;D	0.94330	-3.39;-3.39;-3.39;-3.39;-3.39;-3.39;-3.4	4.35	3.46	0.39613	.	0.248892	0.31221	N	0.008021	D	0.84056	0.5388	N	0.08118	0	0.33873	D	0.635155	B;B;B;B	0.18461	0.003;0.003;0.016;0.028	B;B;B;B	0.10450	0.003;0.003;0.002;0.005	T	0.83351	-0.0003	10	0.48119	T	0.1	.	10.3088	0.43695	0.0982:0.0:0.9018:0.0	.	611;611;611;621	Q63HR2-6;Q63HR2-2;Q63HR2;Q63HR2-4	.;.;TENC1_HUMAN;.	Q	487;621;611;611;611;611;611;611	ENSP00000369232:R487Q;ENSP00000319756:R621Q;ENSP00000319684:R611Q;ENSP00000393362:R611Q;ENSP00000449363:R611Q;ENSP00000447021:R611Q;ENSP00000449361:R611Q	ENSP00000319684:R611Q	R	+	2	0	TENC1	51739524	0.556000	0.26538	0.997000	0.53966	0.980000	0.70556	1.796000	0.38794	1.200000	0.43188	0.462000	0.41574	CGG		0.692	TENC1-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000405779.1	NM_170754		3	2	0	0	0	1	0	3	2					A	53453257	G	A	53453257	3	1	435	1	0	0	0	0	1	0	0	0	15755	1116	39	2	2011	2	TENC1	12	53453257	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	387	53453257	80398638	5716	26641											
TENC1	23371	broad.mit.edu	37	chr12	53456223	53456223	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctccctgccctgctgcctgcGcattcccagcaaaggtgagt	6	9	10	16	1	0	1	0	1	0	0	2	1	2	1	4	1	5	3	4	1	1	1	rs142568866	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:53456223G>A	ENST00000314250.6	+	24	4021	c.3731G>A	c.(3730-3732)cGc>cAc	p.R1244H	TENC1_ENST00000451358.1_Missense_Mutation_p.R1234H|TENC1_ENST00000379902.3_Missense_Mutation_p.R1120H|TENC1_ENST00000552570.1_Missense_Mutation_p.R1244H|TENC1_ENST00000549700.1_Missense_Mutation_p.R1179H|TENC1_ENST00000314276.3_Missense_Mutation_p.R1254H|TENC1_ENST00000546602.1_Missense_Mutation_p.R1147H	NM_170754.2	NP_736610.2	Q63HR2	TENC1_HUMAN	tensin like C1 domain containing phosphatase (tensin 2)	1244	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				cellular homeostasis (GO:0019725)|collagen metabolic process (GO:0032963)|intracellular signal transduction (GO:0035556)|kidney development (GO:0001822)|multicellular organism growth (GO:0035264)|multicellular organismal homeostasis (GO:0048871)|negative regulation of cell proliferation (GO:0008285)|response to muscle activity (GO:0014850)	focal adhesion (GO:0005925)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|phosphoprotein phosphatase activity (GO:0004721)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(19)|ovary(1)|pancreas(1)|stomach(3)	34						TGCTGCCTGCGCATTCCCAGC	0.632													G|||	4	0.000798722	0	0	5008	,	,		19429	0		0	False		,,,				2504	0.0041					ENST00000314250.6																			0				central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(19)|ovary(1)|pancreas(1)|stomach(3)	34						c.(3730-3732)cGc>cAc		tensin like C1 domain containing phosphatase (tensin 2)		G	HIS/ARG,HIS/ARG,HIS/ARG	3,4403	6.2+/-15.9	0,3,2200	151	118	129		3761,3731,3359	0.6	0.9	12	dbSNP_134	129	9,8591	7.1+/-27.0	0,9,4291	yes	missense,missense,missense	TENC1	NM_015319.2,NM_170754.2,NM_198316.1	29,29,29	0,12,6491	AA,AG,GG		0.1047,0.0681,0.0923	probably-damaging,probably-damaging,probably-damaging	1254/1420,1244/1410,1120/1286	53456223	12,12994	2203	4300	6503	SO:0001583	missense	23371				intracellular signal transduction|negative regulation of cell proliferation	focal adhesion	metal ion binding|phosphoprotein phosphatase activity|protein binding	g.chr12:53456223G>A	AF518729	CCDS8842.1, CCDS8843.1, CCDS8844.1	12q13.13	2013-02-14	2004-03-05			ENSG00000111077		"Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs", "SH2 domain containing"	19737	protein-coding gene	gene with protein product	"tensin 2"	607717	"tensin like C1 domain-containing phosphatase"				Standard	NM_015319		Approved	KIAA1075, C1-TEN, TNS2	uc001sbp.3	Q63HR2	OTTHUMG00000169730	ENST00000314250.6:c.3731G>A	12.37:g.53456223G>A	ENSP00000319684:p.Arg1244His					TENC1_ENST00000451358.1_Missense_Mutation_p.R1234H|TENC1_ENST00000546602.1_Missense_Mutation_p.R1147H|TENC1_ENST00000549700.1_Missense_Mutation_p.R1179H|TENC1_ENST00000552570.1_Missense_Mutation_p.R1244H|TENC1_ENST00000379902.3_Missense_Mutation_p.R1120H|TENC1_ENST00000314276.3_Missense_Mutation_p.R1254H	p.R1244H	NM_170754.2	NP_736610.2	Q63HR2	TENC1_HUMAN			24	4021	+			1244			SH2.		A2VDF2|A2VDF3|A2VDI8|A5PKY4|Q2NL80|Q76MW6|Q7Z5T9|Q8NFF9|Q8NFG0|Q96P25|Q9NT29|Q9UPS7	Missense_Mutation	SNP	ENST00000314250.6	37	c.3731G>A	CCDS8843.1	.	.	.	.	.	.	.	.	.	.	G	4.339	0.062420	0.08388	6.81E-4	0.001047	ENSG00000111077	ENST00000379902;ENST00000314276;ENST00000314250;ENST00000451358;ENST00000546602;ENST00000552570;ENST00000549700	T;T;T;T;T;T;T	0.63744	-0.06;-0.06;-0.06;-0.06;-0.06;-0.06;-0.06	4.67	0.609	0.17575	SH2 motif (2);	0.518222	0.19859	N	0.104469	T	0.51534	0.1680	L	0.59967	1.855	0.19775	N	0.999958	B;B;B;B	0.11235	0.001;0.002;0.002;0.004	B;B;B;B	0.13407	0.009;0.002;0.002;0.009	T	0.42682	-0.9437	10	0.42905	T	0.14	.	5.7573	0.18180	0.316:0.0:0.5557:0.1283	.	1244;1147;1244;1254	Q63HR2-6;Q63HR2-2;Q63HR2;Q63HR2-4	.;.;TENC1_HUMAN;.	H	1120;1254;1244;1234;1147;1244;1179	ENSP00000369232:R1120H;ENSP00000319756:R1254H;ENSP00000319684:R1244H;ENSP00000393362:R1234H;ENSP00000449363:R1147H;ENSP00000447021:R1244H;ENSP00000449361:R1179H	ENSP00000319684:R1244H	R	+	2	0	TENC1	51742490	0.000000	0.05858	0.916000	0.36221	0.358000	0.29455	0.263000	0.18478	-0.186000	0.10533	-1.598000	0.00824	CGC		0.632	TENC1-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000405779.1	NM_170754		4	81	0	0	0	1	0	4	81					A	53456223	G	A	53456223	3	1	435	1	0	0	0	0	1	0	0	0	15755	1087	38	1	3934	1	TENC1	12	53456223	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	2966	53456223	80395672	5717	26642											
SOAT2	8435	broad.mit.edu	37	chr12	53514641	53514641	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acgcctttgccgagatgctaCgatttggagacaggatgttc	9	11	12	9	3	0	2	0	0	0	2	1	6	0	3	2	2	3	2	2	2	1	4	rs535557984		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:53514641C>T	ENST00000301466.3	+	11	1171	c.1111C>T	c.(1111-1113)Cga>Tga	p.R371*		NM_003578.3	NP_003569.1	O75908	SOAT2_HUMAN	sterol O-acyltransferase 2	371					cholesterol efflux (GO:0033344)|cholesterol esterification (GO:0034435)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|intestinal cholesterol absorption (GO:0030299)|macrophage derived foam cell differentiation (GO:0010742)|very-low-density lipoprotein particle assembly (GO:0034379)	brush border (GO:0005903)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	cholesterol binding (GO:0015485)|cholesterol O-acyltransferase activity (GO:0034736)|fatty-acyl-CoA binding (GO:0000062)|transferase activity, transferring acyl groups (GO:0016746)			endometrium(5)|kidney(3)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|skin(1)	18					Hesperetin(DB01094)	CGAGATGCTACGATTTGGAGA	0.567													C|||	1	0.000199681	0	0.0014	5008	,	,		19619	0		0	False		,,,				2504	0					ENST00000301466.3																			0				endometrium(5)|kidney(3)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|skin(1)	18						c.(1111-1113)Cga>Tga		sterol O-acyltransferase 2							180	145	157					12																	53514641		2203	4300	6503	SO:0001587	stop_gained	8435				cholesterol efflux|cholesterol esterification|cholesterol homeostasis|cholesterol metabolic process|macrophage derived foam cell differentiation|very-low-density lipoprotein particle assembly	brush border|endoplasmic reticulum membrane|integral to membrane|microsome	cholesterol binding|cholesterol O-acyltransferase activity|fatty-acyl-CoA binding	g.chr12:53514641C>T	AF059203	CCDS8847.1	12q13.13	2012-09-20			ENSG00000167780	ENSG00000167780	2.3.1.26		11178	protein-coding gene	gene with protein product		601311				9756920	Standard	NM_003578		Approved	ACAT2	uc001sbv.3	O75908	OTTHUMG00000169774	ENST00000301466.3:c.1111C>T	12.37:g.53514641C>T	ENSP00000301466:p.Arg371*						p.R371*	NM_003578.3	NP_003569.1	O75908	SOAT2_HUMAN			11	1171	+			371					F5H7W4|I6L9H9|Q4VB99|Q4VBA1|Q96TD4|Q9UNR2	Nonsense_Mutation	SNP	ENST00000301466.3	37	c.1111C>T	CCDS8847.1	.	.	.	.	.	.	.	.	.	.	C	38	6.756102	0.97817	.	.	ENSG00000167780	ENST00000301466	.	.	.	5.53	5.53	0.82687	.	0.127063	0.53938	D	0.000058	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-12.7256	18.6157	0.91302	0.0:1.0:0.0:0.0	.	.	.	.	X	371	.	ENSP00000301466:R371X	R	+	1	2	SOAT2	51800908	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	5.586000	0.67503	2.771000	0.95319	0.561000	0.74099	CGA		0.567	SOAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405817.1			41	55	0	0	0	1	0	41	55					T	53514641	C	T	53514641	4	4	435	1	0	0	0	0	0	1	0	0	14911	528	19	1	1153	1	SOAT2	12	53514641	Nonsense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	58418	53514641	80337254	5718	26643											
CSAD	51380	broad.mit.edu	37	chr12	53553931	53553931	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggacaaaggcctggtcgatgCgccgctccagcccttgatcg	7	7	13	14	4	0	1	0	1	0	0	3	3	1	2	4	3	2	1	4	3	1	1	rs34792176		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:53553931C>T	ENST00000444623.1	-	14	1406	c.1139G>A	c.(1138-1140)cGc>cAc	p.R380H	RP11-1136G11.8_ENST00000550908.1_lincRNA|CSAD_ENST00000453446.2_Missense_Mutation_p.R380H|CSAD_ENST00000379843.3_Missense_Mutation_p.R233H|CSAD_ENST00000267085.4_Missense_Mutation_p.R407H|CSAD_ENST00000379846.1_Missense_Mutation_p.R233H	NM_001244705.1	NP_001231634.1	Q9Y600	CSAD_HUMAN	cysteine sulfinic acid decarboxylase	380					cellular nitrogen compound metabolic process (GO:0034641)|small molecule metabolic process (GO:0044281)|sulfur amino acid catabolic process (GO:0000098)|sulfur amino acid metabolic process (GO:0000096)|taurine biosynthetic process (GO:0042412)		pyridoxal phosphate binding (GO:0030170)|sulfinoalanine decarboxylase activity (GO:0004782)			kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(4)	14					L-Cysteine(DB00151)	CTGGTCGATGCGCCGCTCCAG	0.657											OREG0021859	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									Ovarian(109;252 1546 16882 28524 44645)	ENST00000267085.4																			0				kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(4)	14						c.(1219-1221)cGc>cAc		cysteine sulfinic acid decarboxylase	L-Cysteine(DB00151)|Pyridoxal Phosphate(DB00114)						89	81	84					12																	53553931		2203	4300	6503	SO:0001583	missense	51380				carboxylic acid metabolic process		pyridoxal phosphate binding|sulfinoalanine decarboxylase activity	g.chr12:53553931C>T	AB044561	CCDS8848.2, CCDS58235.1	12q13.11-q14.3	2008-08-04			ENSG00000139631	ENSG00000139631			18966	protein-coding gene	gene with protein product	"P-selectin cytoplasmic tail-associated protein"					15489334	Standard	NM_015989		Approved	PCAP, CSD	uc001sbz.3	Q9Y600	OTTHUMG00000048076	ENST00000444623.1:c.1139G>A	12.37:g.53553931C>T	ENSP00000415485:p.Arg380His		OREG0021859	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	993	CSAD_ENST00000379843.3_Missense_Mutation_p.R233H|RP11-1136G11.8_ENST00000550908.1_lincRNA|CSAD_ENST00000379846.1_Missense_Mutation_p.R233H|CSAD_ENST00000444623.1_Missense_Mutation_p.R380H|CSAD_ENST00000453446.2_Missense_Mutation_p.R380H	p.R407H	NM_001244706.1|NM_015989.4	NP_001231635.1|NP_057073.4	Q9Y600	CSAD_HUMAN			14	1453	-			380					A8K0U4|Q4QQH9|Q9UNJ5|Q9Y601	Missense_Mutation	SNP	ENST00000444623.1	37	c.1220G>A	CCDS58235.1	.	.	.	.	.	.	.	.	.	.	C	7.793	0.711942	0.15306	.	.	ENSG00000139631	ENST00000308926;ENST00000379843;ENST00000267085;ENST00000379846;ENST00000444623;ENST00000398047;ENST00000453446	T;T;T;T;T	0.38560	1.13;1.13;1.13;1.13;1.13	4.67	4.67	0.58626	Pyridoxal phosphate-dependent transferase, major region, subdomain 2 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.052914	0.85682	D	0.000000	T	0.44307	0.1287	L	0.35542	1.07	0.80722	D	1	D;D;P	0.61697	0.987;0.99;0.702	P;P;B	0.54924	0.701;0.764;0.125	T	0.11108	-1.0601	10	0.14252	T	0.57	-8.0005	16.8864	0.86077	0.0:1.0:0.0:0.0	.	407;380;233	Q9Y600-3;Q9Y600;Q9Y600-2	.;CSAD_HUMAN;.	H	469;233;407;233;380;341;380	ENSP00000369172:R233H;ENSP00000267085:R407H;ENSP00000369175:R233H;ENSP00000415485:R380H;ENSP00000410648:R380H	ENSP00000267085:R407H	R	-	2	0	CSAD	51840198	1.000000	0.71417	0.867000	0.34043	0.055000	0.15305	7.038000	0.76537	2.597000	0.87782	0.655000	0.94253	CGC		0.657	CSAD-017	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343697.1	NM_015989		13	14	0	0	0	1	0	13	14					T	53553931	C	T	53553931	3	4	435	1	0	0	0	0	1	0	0	0	3925	768	27	1	358	1	CSAD	12	53553931	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	39290	53553931	80297964	5719	26644											
ITGB7	3695	broad.mit.edu	37	chr12	53586194	53586194	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agaacagctggttgtccaggGtccgctctttgcaccagcca	8	9	11	13	1	1	1	0	0	1	1	3	1	3	1	4	2	4	4	4	2	1	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:53586194G>A	ENST00000267082.5	-	14	2306	c.2075C>T	c.(2074-2076)aCc>aTc	p.T692I	ITGB7_ENST00000338737.4_Missense_Mutation_p.T544I|ITGB7_ENST00000422257.3_Missense_Mutation_p.T692I|ITGB7_ENST00000550743.2_Missense_Mutation_p.T544I	NM_000889.1	NP_000880.1	P26010	ITB7_HUMAN	integrin, beta 7	692					cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|cell-matrix adhesion involved in ameboidal cell migration (GO:0003366)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte tethering or rolling (GO:0050901)|multicellular organismal development (GO:0007275)|receptor clustering (GO:0043113)|regulation of immune response (GO:0050776)|substrate adhesion-dependent cell spreading (GO:0034446)|T cell migration (GO:0072678)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integrin alpha4-beta7 complex (GO:0034669)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	cell adhesion molecule binding (GO:0050839)|metal ion binding (GO:0046872)|virus receptor activity (GO:0001618)			NS(2)|breast(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(3)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						GTTGTCCAGGGTCCGCTCTTT	0.577																																						ENST00000267082.5																			0				NS(2)|breast(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(3)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						c.(2074-2076)aCc>aTc		integrin, beta 7							141	127	131					12																	53586194		2203	4300	6503	SO:0001583	missense	3695				cell-matrix adhesion|integrin-mediated signaling pathway|multicellular organismal development|regulation of immune response	integrin complex	identical protein binding|metal ion binding|receptor activity	g.chr12:53586194G>A		CCDS8849.1	12q13.1	2010-03-23				ENSG00000139626		"Integrins"	6162	protein-coding gene	gene with protein product		147559				2040616	Standard	XM_005268851		Approved		uc001scc.3	P26010		ENST00000267082.5:c.2075C>T	12.37:g.53586194G>A	ENSP00000267082:p.Thr692Ile					ITGB7_ENST00000550743.2_Missense_Mutation_p.T544I|ITGB7_ENST00000422257.3_Missense_Mutation_p.T692I|ITGB7_ENST00000338737.4_Missense_Mutation_p.T544I	p.T692I	NM_000889.1	NP_000880.1	P26010	ITB7_HUMAN			14	2306	-			692					Q9UCP7|Q9UCS7	Missense_Mutation	SNP	ENST00000267082.5	37	c.2075C>T	CCDS8849.1	.	.	.	.	.	.	.	.	.	.	G	13.80	2.346552	0.41599	.	.	ENSG00000139626	ENST00000422257;ENST00000267082;ENST00000338737	D;D;D	0.90444	-1.67;-1.67;-2.67	4.83	4.83	0.62350	Integrin beta subunit, tail (1);	0.000000	0.43919	D	0.000505	D	0.88890	0.6560	M	0.67953	2.075	0.24901	N	0.992105	P	0.39964	0.697	B	0.36030	0.216	D	0.84965	0.0879	10	0.56958	D	0.05	.	15.2499	0.73536	0.0:0.0:1.0:0.0	.	692	P26010	ITB7_HUMAN	I	692;692;544	ENSP00000408741:T692I;ENSP00000267082:T692I;ENSP00000345501:T544I	ENSP00000267082:T692I	T	-	2	0	ITGB7	51872461	0.851000	0.29673	0.681000	0.30009	0.420000	0.31355	2.526000	0.45607	2.420000	0.82092	0.561000	0.74099	ACC		0.577	ITGB7-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405821.2			24	46	0	0	0	1	0	24	46					A	53586194	G	A	53586194	3	1	435	1	0	0	0	0	1	0	0	0	7900	1261	44	3	333	3	ITGB7	12	53586194	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	32263	53586194	80265701	5720	26645											
ESPL1	9700	broad.mit.edu	37	chr12	53680240	53680240	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggcctgaaccagccatcaaaCgagagcctgcagaaggttct	12	6	11	12	1	2	3	1	1	1	2	2	4	2	3	4	2	5	2	4	2	3	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:53680240C>T	ENST00000257934.4	+	18	3811	c.3720C>T	c.(3718-3720)aaC>aaT	p.N1240N	ESPL1_ENST00000552462.1_Silent_p.N1240N	NM_012291.4	NP_036423.4	Q14674	ESPL1_HUMAN	extra spindle pole bodies homolog 1 (S. cerevisiae)	1240					apoptotic process (GO:0006915)|cytokinesis (GO:0000910)|establishment of mitotic spindle localization (GO:0040001)|homologous chromosome segregation (GO:0045143)|meiotic spindle organization (GO:0000212)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid segregation (GO:0000070)|negative regulation of sister chromatid cohesion (GO:0045875)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)	centrosome (GO:0005813)|cytosol (GO:0005829)|nucleus (GO:0005634)	catalytic activity (GO:0003824)|cysteine-type peptidase activity (GO:0008234)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(10)|large_intestine(12)|lung(21)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(8)	70						AGCCATCAAACGAGAGCCTGC	0.552																																					Colon(53;1069 1201 2587 5382)	ENST00000257934.4																			0				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(10)|large_intestine(12)|lung(21)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(8)	70						c.(3718-3720)aaC>aaT		extra spindle pole bodies homolog 1 (S. cerevisiae)							98	107	104					12																	53680240		2203	4300	6503	SO:0001819	synonymous_variant	9700				apoptosis|cytokinesis|establishment of mitotic spindle localization|mitotic sister chromatid segregation|negative regulation of sister chromatid cohesion|positive regulation of mitotic metaphase/anaphase transition|proteolysis	centrosome|nucleus	cysteine-type peptidase activity|protein binding	g.chr12:53680240C>T	D79987	CCDS8852.1	12q13.13	2014-08-04	2013-05-03		ENSG00000135476	ENSG00000135476	3.4.22.49		16856	protein-coding gene	gene with protein product	"separin", "separase", "separin, cysteine protease"	604143	"extra spindle poles like 1 (S. cerevisiae)"			8724849, 16258266	Standard	NM_012291		Approved	KIAA0165, ESP1, SEPA	uc001sck.2	Q14674	OTTHUMG00000169674	ENST00000257934.4:c.3720C>T	12.37:g.53680240C>T						ESPL1_ENST00000552462.1_Silent_p.N1240N	p.N1240N	NM_012291.4	NP_036423.4	Q14674	ESPL1_HUMAN			18	3811	+			1240						Silent	SNP	ENST00000257934.4	37	c.3720C>T	CCDS8852.1																																																																																				0.552	ESPL1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406899.2	NM_012291		35	54	0	0	0	1	0	35	54					T	53680240	C	T	53680240	2	4	435	1	0	0	0	0	0	0	0	1	5253	535	19	1		1	ESPL1	12	53680240	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	94046	53680240	80171655	5721	26646											
ESPL1	9700	broad.mit.edu	37	chr12	53683373	53683373	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ggagcgcctggctctgatccCcagtggtatgcgggcagcct	5	8	15	13	2	1	1	0	1	1	0	2	2	2	2	4	4	3	3	4	4	1	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:53683373C>T	ENST00000257934.4	+	22	5199	c.5108C>T	c.(5107-5109)cCc>cTc	p.P1703L	ESPL1_ENST00000552462.1_Missense_Mutation_p.P1703L	NM_012291.4	NP_036423.4	Q14674	ESPL1_HUMAN	extra spindle pole bodies homolog 1 (S. cerevisiae)	1703					apoptotic process (GO:0006915)|cytokinesis (GO:0000910)|establishment of mitotic spindle localization (GO:0040001)|homologous chromosome segregation (GO:0045143)|meiotic spindle organization (GO:0000212)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid segregation (GO:0000070)|negative regulation of sister chromatid cohesion (GO:0045875)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)	centrosome (GO:0005813)|cytosol (GO:0005829)|nucleus (GO:0005634)	catalytic activity (GO:0003824)|cysteine-type peptidase activity (GO:0008234)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(10)|large_intestine(12)|lung(21)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(8)	70						GCTCTGATCCCCAGTGGTATG	0.567																																					Colon(53;1069 1201 2587 5382)	ENST00000257934.4																			0				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(10)|large_intestine(12)|lung(21)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(8)	70						c.(5107-5109)cCc>cTc		extra spindle pole bodies homolog 1 (S. cerevisiae)							32	35	34					12																	53683373		2203	4300	6503	SO:0001583	missense	9700				apoptosis|cytokinesis|establishment of mitotic spindle localization|mitotic sister chromatid segregation|negative regulation of sister chromatid cohesion|positive regulation of mitotic metaphase/anaphase transition|proteolysis	centrosome|nucleus	cysteine-type peptidase activity|protein binding	g.chr12:53683373C>T	D79987	CCDS8852.1	12q13.13	2014-08-04	2013-05-03		ENSG00000135476	ENSG00000135476	3.4.22.49		16856	protein-coding gene	gene with protein product	"separin", "separase", "separin, cysteine protease"	604143	"extra spindle poles like 1 (S. cerevisiae)"			8724849, 16258266	Standard	NM_012291		Approved	KIAA0165, ESP1, SEPA	uc001sck.2	Q14674	OTTHUMG00000169674	ENST00000257934.4:c.5108C>T	12.37:g.53683373C>T	ENSP00000257934:p.Pro1703Leu					ESPL1_ENST00000552462.1_Missense_Mutation_p.P1703L	p.P1703L	NM_012291.4	NP_036423.4	Q14674	ESPL1_HUMAN			22	5199	+			1703						Missense_Mutation	SNP	ENST00000257934.4	37	c.5108C>T	CCDS8852.1	.	.	.	.	.	.	.	.	.	.	C	16.44	3.123840	0.56613	.	.	ENSG00000135476	ENST00000257934;ENST00000552671;ENST00000552462	T;T	0.58797	0.31;0.31	5.26	5.26	0.73747	.	0.055414	0.64402	D	0.000001	T	0.67192	0.2867	L	0.36672	1.1	0.58432	D	0.999996	D	0.89917	1.0	D	0.91635	0.999	T	0.69135	-0.5225	10	0.87932	D	0	.	14.2504	0.66016	0.0:1.0:0.0:0.0	.	1703	Q14674	ESPL1_HUMAN	L	1703;1378;1703	ENSP00000257934:P1703L;ENSP00000449831:P1703L	ENSP00000257934:P1703L	P	+	2	0	ESPL1	51969640	0.994000	0.37717	0.998000	0.56505	0.124000	0.20399	4.718000	0.61930	2.735000	0.93741	0.563000	0.77884	CCC		0.567	ESPL1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406899.2	NM_012291		19	33	0	0	0	1	0	19	33					T	53683373	C	T	53683373	3	4	435	1	0	0	0	0	1	0	0	0	5253	623	22	3	5190	3	ESPL1	12	53683373	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	3133	53683373	80168522	5722	26647											
C12orf10	60314	broad.mit.edu	37	chr12	53700495	53700495	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggagagattgtggaactggCgaaaggtgcatgtccctgga	10	9	16	6	1	0	1	0	0	0	1	1	6	1	4	1	5	2	1	1	5	2	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:53700495C>T	ENST00000267103.5	+	6	849	c.797C>T	c.(796-798)gCg>gTg	p.A266V	C12orf10_ENST00000548632.1_Missense_Mutation_p.A191V|C12orf10_ENST00000549488.1_Missense_Mutation_p.A103V|AAAS_ENST00000549983.1_5'Flank	NM_021640.3	NP_067653	Q9HB07	MYG1_HUMAN	chromosome 12 open reading frame 10	266					locomotory exploration behavior (GO:0035641)|pigmentation (GO:0043473)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)				cervix(1)|endometrium(3)|kidney(5)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)	20						GTGGAACTGGCGAAAGGTGCA	0.517																																						ENST00000267103.5																			0				cervix(1)|endometrium(3)|kidney(5)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)	20						c.(796-798)gCg>gTg		chromosome 12 open reading frame 10							133	110	117					12																	53700495		2203	4300	6503	SO:0001583	missense	60314							g.chr12:53700495C>T	AF289485	CCDS31810.1	12q13.13	2014-05-29			ENSG00000139637	ENSG00000139637			17590	protein-coding gene	gene with protein product	"melanocyte related gene", "melanocyte proliferating gene 1"	611366					Standard	NM_021640		Approved	MYG, MYG1, Gamm1	uc001scp.4	Q9HB07	OTTHUMG00000170030	ENST00000267103.5:c.797C>T	12.37:g.53700495C>T	ENSP00000267103:p.Ala266Val					C12orf10_ENST00000549488.1_Missense_Mutation_p.A103V|C12orf10_ENST00000548632.1_Missense_Mutation_p.A191V	p.A266V	NM_021640.3	NP_067653.3	Q86UA3	Q86UA3_HUMAN			6	849	+			266						Missense_Mutation	SNP	ENST00000267103.5	37	c.797C>T	CCDS31810.1	.	.	.	.	.	.	.	.	.	.	c	11.35	1.611916	0.28712	.	.	ENSG00000139637	ENST00000267103;ENST00000548845;ENST00000545214;ENST00000548632;ENST00000549488	T;T;T	0.43688	0.94;0.94;0.94	4.3	1.49	0.22878	.	0.382709	0.29653	N	0.011553	T	0.16128	0.0388	N	0.08118	0	0.25596	N	0.986645	P;P	0.39920	0.695;0.567	B;B	0.32090	0.14;0.108	T	0.11616	-1.0580	10	0.34782	T	0.22	-8.0273	5.8068	0.18444	0.1556:0.6704:0.0:0.174	.	215;266	F5H641;Q9HB07	.;MYG1_HUMAN	V	266;151;215;191;103	ENSP00000267103:A266V;ENSP00000450270:A191V;ENSP00000448433:A103V	ENSP00000267103:A266V	A	+	2	0	C12orf10	51986762	0.002000	0.14202	0.939000	0.37840	0.698000	0.40448	1.173000	0.31920	0.361000	0.24292	-0.119000	0.15052	GCG		0.517	C12orf10-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406906.1	NM_021640		21	32	0	0	0	1	0	21	32					T	53700495	C	T	53700495	3	4	435	1	0	0	0	0	1	0	0	0	1674	768	27	1	819	1	C12orf10	12	53700495	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	17122	53700495	80151400	5723	26648											
AMHR2	269	broad.mit.edu	37	chr12	53818596	53818596	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcttcacctgctcctgtggCactgacttctgcaatgccaa	7	12	7	15	0	3	1	1	1	2	0	4	1	4	1	3	1	3	3	3	1	2	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:53818596C>T	ENST00000257863.4	+	3	416	c.336C>T	c.(334-336)ggC>ggT	p.G112G	AMHR2_ENST00000550311.1_Silent_p.G112G|AMHR2_ENST00000379791.3_Silent_p.G112G	NM_001164690.1|NM_020547.2	NP_001158162.1|NP_065434.1	Q16671	AMHR2_HUMAN	anti-Mullerian hormone receptor, type II	112					Mullerian duct regression (GO:0001880)|negative regulation of anti-Mullerian hormone signaling pathway (GO:1902613)|sex differentiation (GO:0007548)|signal transduction (GO:0007165)|transforming growth factor beta receptor signaling pathway (GO:0007179)	integral component of plasma membrane (GO:0005887)	anti-Mullerian hormone receptor activity (GO:1990272)|ATP binding (GO:0005524)|hormone binding (GO:0042562)|metal ion binding (GO:0046872)|receptor activity (GO:0004872)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|transforming growth factor beta receptor activity, type II (GO:0005026)			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|skin(2)	34					Adenosine triphosphate(DB00171)	GCTCCTGTGGCACTGACTTCT	0.642																																						ENST00000257863.4																			0				breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|skin(2)	34						c.(334-336)ggC>ggT		anti-Mullerian hormone receptor, type II	Adenosine triphosphate(DB00171)						98	95	96					12																	53818596		2203	4300	6503	SO:0001819	synonymous_variant	269				Mullerian duct regression		ATP binding|hormone binding|metal ion binding	g.chr12:53818596C>T	AF172932	CCDS8858.1, CCDS53798.1, CCDS55829.1	12q13	2013-03-14							465	protein-coding gene	gene with protein product	"Muellerian inhibiting substance type II receptor"	600956				7493017	Standard	NM_001164690		Approved	MISR2, MISRII	uc001scx.2	Q16671	OTTHUMG00000170048	ENST00000257863.4:c.336C>T	12.37:g.53818596C>T						AMHR2_ENST00000379791.3_Silent_p.G112G|AMHR2_ENST00000550311.1_Silent_p.G112G	p.G112G	NM_001164690.1|NM_020547.2	NP_001158162.1|NP_065434.1	Q16671	AMHR2_HUMAN			3	416	+			112					A0AVE1|B9EGB7|E9PGD2|F8W1D2|Q13762|Q647K2	Silent	SNP	ENST00000257863.4	37	c.336C>T	CCDS8858.1																																																																																				0.642	AMHR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407048.1	NM_020547		17	72	0	0	0	1	0	17	72					T	53818596	C	T	53818596	2	4	435	1	0	0	0	0	0	0	0	1	573	697	25	3		3	AMHR2	12	53818596	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	118101	53818596	80033299	5724	26649											
PCBP2	5094	broad.mit.edu	37	chr12	53861054	53861054	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acagtctcattttcccatgaCgcatggcaacaccggattca	11	10	7	13	2	2	1	2	1	1	0	4	2	3	2	2	2	1	2	2	2	1	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:53861054C>T	ENST00000439930.3	+	10	798	c.776C>T	c.(775-777)aCg>aTg	p.T259M	PCBP2_ENST00000549863.1_Missense_Mutation_p.T214M|PCBP2_ENST00000541275.1_Missense_Mutation_p.T255M|PCBP2_ENST00000552296.2_Missense_Mutation_p.T255M|PCBP2_ENST00000546463.1_Missense_Mutation_p.T255M|PCBP2_ENST00000359282.5_Missense_Mutation_p.T224M|PCBP2_ENST00000548933.1_Missense_Mutation_p.T228M|PCBP2_ENST00000603815.1_Missense_Mutation_p.T259M|PCBP2_ENST00000447282.1_Missense_Mutation_p.T228M|PCBP2_ENST00000437231.1_Missense_Mutation_p.T224M|PCBP2_ENST00000359462.5_Missense_Mutation_p.T259M|PCBP2_ENST00000455667.3_Missense_Mutation_p.T224M|RP11-793H13.8_ENST00000547717.1_RNA|PCBP2_ENST00000552819.1_Missense_Mutation_p.T228M			Q15366	PCBP2_HUMAN	poly(rC) binding protein 2	259					defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|mRNA metabolic process (GO:0016071)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of defense response to virus (GO:0050687)|negative regulation of type I interferon production (GO:0032480)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(4)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	15						TTTCCCATGACGCATGGCAAC	0.488																																						ENST00000603815.1																			0				central_nervous_system(4)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	15						c.(775-777)aCg>aTg		poly(rC) binding protein 2							175	148	157					12																	53861054		2203	4300	6503	SO:0001583	missense	5094				innate immune response|negative regulation of defense response to virus|negative regulation of type I interferon production|nuclear mRNA splicing, via spliceosome|proteasomal ubiquitin-dependent protein catabolic process|response to virus	cytosol|nucleoplasm|ribonucleoprotein complex	DNA binding|RNA binding|ubiquitin protein ligase binding	g.chr12:53861054C>T	BC035420	CCDS8859.1, CCDS44900.1, CCDS44901.1, CCDS44902.1, CCDS44903.1, CCDS44904.1, CCDS55830.1	12q13.13	2013-10-30	2001-11-28		ENSG00000197111	ENSG00000197111			8648	protein-coding gene	gene with protein product	"heterogenous nuclear ribonucleoprotein E2"	601210	"poly(rC)-binding protein 2"			8833161	Standard	NM_001098620		Approved	HNRPE2, hnRNP-E2, HNRNPE2	uc001sdc.4	Q15366	OTTHUMG00000169439	ENST00000439930.3:c.776C>T	12.37:g.53861054C>T	ENSP00000408949:p.Thr259Met					PCBP2_ENST00000552819.1_Missense_Mutation_p.T228M|PCBP2_ENST00000546463.1_Missense_Mutation_p.T255M|RP11-793H13.8_ENST00000547717.1_RNA|PCBP2_ENST00000552296.2_Missense_Mutation_p.T255M|PCBP2_ENST00000548933.1_Missense_Mutation_p.T228M|PCBP2_ENST00000549863.1_Missense_Mutation_p.T214M|PCBP2_ENST00000455667.3_Missense_Mutation_p.T224M|PCBP2_ENST00000447282.1_Missense_Mutation_p.T228M|PCBP2_ENST00000439930.3_Missense_Mutation_p.T259M|PCBP2_ENST00000541275.1_Missense_Mutation_p.T255M|PCBP2_ENST00000359462.5_Missense_Mutation_p.T259M|PCBP2_ENST00000437231.1_Missense_Mutation_p.T224M|PCBP2_ENST00000359282.5_Missense_Mutation_p.T224M	p.T259M	NM_001128911.1|NM_001128912.1|NM_005016.5|NM_031989.4	NP_001122383.1|NP_001122384.1|NP_005007.2|NP_114366.1	Q15366	PCBP2_HUMAN			11	1126	+			259					A8K7X6|F8VYL7|G3V0E8|I6L8F9|Q32Q82|Q59HD4|Q68Y55|Q6IPF4|Q6PKG5	Missense_Mutation	SNP	ENST00000439930.3	37	c.776C>T	CCDS44901.1	.	.	.	.	.	.	.	.	.	.	C	14.49	2.550276	0.45383	.	.	ENSG00000197111	ENST00000541275;ENST00000359282;ENST00000447282;ENST00000437231;ENST00000439930;ENST00000549863;ENST00000359462;ENST00000550927;ENST00000546463;ENST00000552296;ENST00000552083;ENST00000552819;ENST00000455667;ENST00000548933;ENST00000379777;ENST00000553064	T;T;T;T;T;T;T;T;T;T;T;T	0.32753	1.85;1.47;1.48;1.44;1.5;1.45;1.51;1.5;1.9;1.45;1.44;1.48	5.72	5.72	0.89469	.	0.085619	0.45361	D	0.000362	T	0.18635	0.0447	N	0.16130	0.375	0.39668	D	0.970719	B;B;B;B;P;B;B;B;B;B;B	0.36125	0.005;0.075;0.062;0.01;0.538;0.0;0.006;0.028;0.001;0.016;0.003	B;B;B;B;B;B;B;B;B;B;B	0.23018	0.005;0.018;0.025;0.004;0.043;0.003;0.01;0.027;0.003;0.004;0.004	T	0.06092	-1.0846	10	0.40728	T	0.16	.	18.6361	0.91379	0.0:1.0:0.0:0.0	.	228;255;216;259;201;228;224;255;224;259;255	B4DXP5;B4DLC0;F8VRG9;Q15366;F8VWQ4;Q32Q82;G3V0E8;F8VYL7;Q68Y55;Q6IPF4;A8K7X6	.;.;.;PCBP2_HUMAN;.;.;.;.;.;.;.	M	255;224;228;224;259;214;259;201;255;255;216;228;224;228;176;88	ENSP00000446130:T255M;ENSP00000352228:T224M;ENSP00000394116:T228M;ENSP00000390304:T224M;ENSP00000408949:T259M;ENSP00000447670:T214M;ENSP00000352438:T259M;ENSP00000448762:T255M;ENSP00000448927:T255M;ENSP00000449070:T228M;ENSP00000388008:T224M;ENSP00000449062:T228M	ENSP00000352228:T224M	T	+	2	0	PCBP2	52147321	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.999000	0.70665	2.702000	0.92279	0.655000	0.94253	ACG		0.488	PCBP2-027	NOVEL	NAGNAG_splice_site|non_canonical_conserved|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000407545.2	NM_005016		25	54	0	0	0	1	0	25	54					T	53861054	C	T	53861054	3	4	435	1	0	0	0	0	1	0	0	0	11501	536	19	1	814	1	PCBP2	12	53861054	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	42458	53861054	79990841	5725	26650											
PCBP2	5094	broad.mit.edu	37	chr12	53865443	53865443	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgattggctgcataatcgggCgtcaaggcgccaaaatcaat	12	9	11	9	3	2	1	2	1	0	0	3	1	2	1	1	3	1	2	1	3	5	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:53865443C>T	ENST00000439930.3	+	13	935	c.913C>T	c.(913-915)Cgt>Tgt	p.R305C	PCBP2_ENST00000549863.1_Missense_Mutation_p.R261C|PCBP2_ENST00000552296.2_Missense_Mutation_p.R301C|PCBP2_ENST00000546463.1_Missense_Mutation_p.R302C|PCBP2_ENST00000359282.5_Missense_Mutation_p.R271C|PCBP2_ENST00000548933.1_Missense_Mutation_p.R275C|PCBP2_ENST00000603815.1_Missense_Mutation_p.R305C|PCBP2_ENST00000447282.1_Missense_Mutation_p.R275C|PCBP2_ENST00000437231.1_Missense_Mutation_p.R258C|PCBP2_ENST00000359462.5_Missense_Mutation_p.R306C|PCBP2_ENST00000455667.3_Missense_Mutation_p.R258C|PCBP2_ENST00000552819.1_Missense_Mutation_p.R262C			Q15366	PCBP2_HUMAN	poly(rC) binding protein 2	305	KH 3. {ECO:0000255|PROSITE- ProRule:PRU00117}.				defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|mRNA metabolic process (GO:0016071)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of defense response to virus (GO:0050687)|negative regulation of type I interferon production (GO:0032480)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(4)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	15						CATAATCGGGCGTCAAGGCGC	0.498																																						ENST00000603815.1																			0				central_nervous_system(4)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	15						c.(913-915)Cgt>Tgt		poly(rC) binding protein 2							52	42	45					12																	53865443		2203	4300	6503	SO:0001583	missense	5094				innate immune response|negative regulation of defense response to virus|negative regulation of type I interferon production|nuclear mRNA splicing, via spliceosome|proteasomal ubiquitin-dependent protein catabolic process|response to virus	cytosol|nucleoplasm|ribonucleoprotein complex	DNA binding|RNA binding|ubiquitin protein ligase binding	g.chr12:53865443C>T	BC035420	CCDS8859.1, CCDS44900.1, CCDS44901.1, CCDS44902.1, CCDS44903.1, CCDS44904.1, CCDS55830.1	12q13.13	2013-10-30	2001-11-28		ENSG00000197111	ENSG00000197111			8648	protein-coding gene	gene with protein product	"heterogenous nuclear ribonucleoprotein E2"	601210	"poly(rC)-binding protein 2"			8833161	Standard	NM_001098620		Approved	HNRPE2, hnRNP-E2, HNRNPE2	uc001sdc.4	Q15366	OTTHUMG00000169439	ENST00000439930.3:c.913C>T	12.37:g.53865443C>T	ENSP00000408949:p.Arg305Cys					PCBP2_ENST00000552819.1_Missense_Mutation_p.R262C|PCBP2_ENST00000546463.1_Missense_Mutation_p.R302C|PCBP2_ENST00000552296.2_Missense_Mutation_p.R301C|PCBP2_ENST00000548933.1_Missense_Mutation_p.R275C|PCBP2_ENST00000549863.1_Missense_Mutation_p.R261C|PCBP2_ENST00000455667.3_Missense_Mutation_p.R258C|PCBP2_ENST00000447282.1_Missense_Mutation_p.R275C|PCBP2_ENST00000439930.3_Missense_Mutation_p.R305C|PCBP2_ENST00000359462.5_Missense_Mutation_p.R306C|PCBP2_ENST00000437231.1_Missense_Mutation_p.R258C|PCBP2_ENST00000359282.5_Missense_Mutation_p.R271C	p.R305C	NM_001128911.1|NM_001128912.1|NM_005016.5|NM_031989.4	NP_001122383.1|NP_001122384.1|NP_005007.2|NP_114366.1	Q15366	PCBP2_HUMAN			14	1263	+			305			KH 3.		A8K7X6|F8VYL7|G3V0E8|I6L8F9|Q32Q82|Q59HD4|Q68Y55|Q6IPF4|Q6PKG5	Missense_Mutation	SNP	ENST00000439930.3	37	c.913C>T	CCDS44901.1	.	.	.	.	.	.	.	.	.	.	C	17.86	3.493318	0.64186	.	.	ENSG00000197111	ENST00000359282;ENST00000447282;ENST00000437231;ENST00000439930;ENST00000549863;ENST00000359462;ENST00000550927;ENST00000546463;ENST00000552296;ENST00000552083;ENST00000552819;ENST00000455667;ENST00000548933;ENST00000379777;ENST00000553064	T;T;T;T;T;T;T;T;T;T;T	0.37235	1.21;1.21;1.21;1.21;1.21;1.21;1.21;1.21;1.21;1.21;1.21	5.12	5.12	0.69794	K Homology (1);K Homology, type 1, subgroup (1);K Homology, type 1 (1);	0.000000	0.85682	D	0.000000	T	0.53110	0.1776	H	0.95004	3.61	0.80722	D	1	B;B;B;B;B;P;B;B;B;B	0.43938	0.004;0.124;0.009;0.127;0.022;0.822;0.124;0.047;0.02;0.033	B;B;B;B;B;B;B;B;B;B	0.38655	0.007;0.124;0.047;0.046;0.128;0.278;0.038;0.07;0.064;0.047	T	0.70565	-0.4837	10	0.72032	D	0.01	.	17.4826	0.87677	0.0:1.0:0.0:0.0	.	262;263;305;248;275;258;301;271;306;302	B4DXP5;F8VRG9;Q15366;F8VWQ4;Q32Q82;G3V0E8;F8VYL7;Q68Y55;Q6IPF4;A8K7X6	.;.;PCBP2_HUMAN;.;.;.;.;.;.;.	C	271;275;258;305;261;306;248;302;301;263;262;258;275;222;135	ENSP00000352228:R271C;ENSP00000394116:R275C;ENSP00000390304:R258C;ENSP00000408949:R305C;ENSP00000447670:R261C;ENSP00000352438:R306C;ENSP00000448762:R302C;ENSP00000448927:R301C;ENSP00000449070:R262C;ENSP00000388008:R258C;ENSP00000449062:R275C	ENSP00000352228:R271C	R	+	1	0	PCBP2	52151710	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.449000	0.44935	2.664000	0.90586	0.650000	0.86243	CGT		0.498	PCBP2-027	NOVEL	NAGNAG_splice_site|non_canonical_conserved|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000407545.2	NM_005016		15	18	0	0	0	1	0	15	18					T	53865443	C	T	53865443	3	4	435	1	0	0	0	0	1	0	0	0	11501	768	27	1	966	1	PCBP2	12	53865443	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	4389	53865443	79986452	5726	26651											
MAP3K12	7786	broad.mit.edu	37	chr12	53876414	53876414	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caagtgctgggacccagcccGgcttcctccccggcctgagg	5	6	13	17	2	0	1	0	1	0	0	2	2	2	2	6	4	2	2	6	4	1	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:53876414G>A	ENST00000267079.2	-	12	2299	c.2074C>T	c.(2074-2076)Cgg>Tgg	p.R692W	MAP3K12_ENST00000547488.1_Missense_Mutation_p.R725W|MAP3K12_ENST00000547035.1_Missense_Mutation_p.R725W	NM_001193511.1|NM_006301.3	NP_001180440.1|NP_006292.3	Q12852	M3K12_HUMAN	mitogen-activated protein kinase kinase kinase 12	692					histone phosphorylation (GO:0016572)|intracellular signal transduction (GO:0035556)|JNK cascade (GO:0007254)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)	p.R692R(1)|p.R725R(1)		NS(2)|breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	37						GACCCAGCCCGGCTTCCTCCC	0.627																																						ENST00000267079.2																			2	Substitution - coding silent(2)	p.R692R(1)|p.R725R(1)	lung(2)	NS(2)|breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	37						c.(2074-2076)Cgg>Tgg		mitogen-activated protein kinase kinase kinase 12							63	72	69					12																	53876414		2201	4298	6499	SO:0001583	missense	7786				histone phosphorylation|JNK cascade|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation	cytosol|membrane fraction|plasma membrane	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding	g.chr12:53876414G>A	U07358	CCDS8860.1, CCDS55831.1	12q13.13	2013-10-30			ENSG00000139625	ENSG00000139625		"Mitogen-activated protein kinase cascade / Kinase kinase kinases"	6851	protein-coding gene	gene with protein product	"dual leucine zipper kinase DLK"	600447		ZPK		8037767	Standard	NM_006301		Approved	MUK, DLK, ZPKP1, MEKK12	uc001sdn.2	Q12852	OTTHUMG00000169854	ENST00000267079.2:c.2074C>T	12.37:g.53876414G>A	ENSP00000267079:p.Arg692Trp					MAP3K12_ENST00000547488.1_Missense_Mutation_p.R725W|MAP3K12_ENST00000547035.1_Missense_Mutation_p.R725W	p.R692W	NM_001193511.1|NM_006301.3	NP_001180440.1|NP_006292.3	Q12852	M3K12_HUMAN			12	2299	-			692					B3KSS9|G3V1Y2|Q86VQ5|Q8WY25	Missense_Mutation	SNP	ENST00000267079.2	37	c.2074C>T	CCDS8860.1	.	.	.	.	.	.	.	.	.	.	G	13.86	2.363388	0.41902	.	.	ENSG00000139625	ENST00000267079;ENST00000547488;ENST00000547035	T;T;T	0.57752	0.38;0.38;0.38	4.14	4.14	0.48551	.	0.206019	0.24996	N	0.033957	T	0.52108	0.1714	L	0.47716	1.5	0.33747	D	0.620165	D;D	0.61080	0.989;0.981	P;B	0.47573	0.55;0.446	T	0.68179	-0.5477	10	0.66056	D	0.02	.	14.3432	0.66641	0.0:0.0:1.0:0.0	.	725;692	G3V1Y2;Q12852	.;M3K12_HUMAN	W	692;725;725	ENSP00000267079:R692W;ENSP00000449038:R725W;ENSP00000448689:R725W	ENSP00000267079:R692W	R	-	1	2	MAP3K12	52162681	0.997000	0.39634	1.000000	0.80357	0.995000	0.86356	0.707000	0.25704	2.604000	0.88044	0.491000	0.48974	CGG		0.627	MAP3K12-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000406267.1	NM_006301		40	51	0	0	0	1	0	40	51					A	53876414	G	A	53876414	3	1	435	1	0	0	0	0	1	0	0	0	9246	1115	39	2	521	2	MAP3K12	12	53876414	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	10971	53876414	79975481	5727	26652											
MAP3K12	7786	broad.mit.edu	37	chr12	53880325	53880325	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccacctcctccccgtggaagCgccccaggaagacagcaccc	9	3	9	20	2	0	1	0	0	0	1	2	3	2	3	8	2	2	1	8	2	2	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:53880325C>T	ENST00000267079.2	-	4	653	c.428G>A	c.(427-429)cGc>cAc	p.R143H	MAP3K12_ENST00000547488.1_Missense_Mutation_p.R176H|MAP3K12_ENST00000547035.1_Missense_Mutation_p.R176H|MAP3K12_ENST00000547151.1_5'UTR	NM_001193511.1|NM_006301.3	NP_001180440.1|NP_006292.3	Q12852	M3K12_HUMAN	mitogen-activated protein kinase kinase kinase 12	143	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				histone phosphorylation (GO:0016572)|intracellular signal transduction (GO:0035556)|JNK cascade (GO:0007254)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	37						CCCGTGGAAGCGCCCCAGGAA	0.592																																						ENST00000267079.2																			0				NS(2)|breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	37						c.(427-429)cGc>cAc		mitogen-activated protein kinase kinase kinase 12							78	68	71					12																	53880325		2203	4300	6503	SO:0001583	missense	7786				histone phosphorylation|JNK cascade|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation	cytosol|membrane fraction|plasma membrane	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding	g.chr12:53880325C>T	U07358	CCDS8860.1, CCDS55831.1	12q13.13	2013-10-30			ENSG00000139625	ENSG00000139625		"Mitogen-activated protein kinase cascade / Kinase kinase kinases"	6851	protein-coding gene	gene with protein product	"dual leucine zipper kinase DLK"	600447		ZPK		8037767	Standard	NM_006301		Approved	MUK, DLK, ZPKP1, MEKK12	uc001sdn.2	Q12852	OTTHUMG00000169854	ENST00000267079.2:c.428G>A	12.37:g.53880325C>T	ENSP00000267079:p.Arg143His					MAP3K12_ENST00000547488.1_Missense_Mutation_p.R176H|MAP3K12_ENST00000547035.1_Missense_Mutation_p.R176H|MAP3K12_ENST00000547151.1_5'UTR	p.R143H	NM_001193511.1|NM_006301.3	NP_001180440.1|NP_006292.3	Q12852	M3K12_HUMAN			4	653	-			143			Protein kinase.		B3KSS9|G3V1Y2|Q86VQ5|Q8WY25	Missense_Mutation	SNP	ENST00000267079.2	37	c.428G>A	CCDS8860.1	.	.	.	.	.	.	.	.	.	.	C	16.68	3.190277	0.58017	.	.	ENSG00000139625	ENST00000267079;ENST00000547488;ENST00000547035	D;D;D	0.89810	-2.57;-2.57;-2.57	5.36	5.36	0.76844	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.45867	D	0.000340	T	0.81545	0.4845	L	0.46567	1.45	0.51482	D	0.999928	P;B	0.39131	0.661;0.329	B;B	0.30179	0.109;0.112	T	0.78630	-0.2129	10	0.17832	T	0.49	.	11.716	0.51653	0.0:0.9173:0.0:0.0827	.	176;143	G3V1Y2;Q12852	.;M3K12_HUMAN	H	143;176;176	ENSP00000267079:R143H;ENSP00000449038:R176H;ENSP00000448689:R176H	ENSP00000267079:R143H	R	-	2	0	MAP3K12	52166592	0.140000	0.22579	1.000000	0.80357	0.998000	0.95712	1.232000	0.32636	2.688000	0.91661	0.561000	0.74099	CGC		0.592	MAP3K12-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000406267.1	NM_006301		7	14	0	0	0	1	0	7	14					T	53880325	C	T	53880325	3	4	435	1	0	0	0	0	1	0	0	0	9246	768	27	1	2199	1	MAP3K12	12	53880325	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	3911	53880325	79971570	5728	26653											
NPFF	8620	broad.mit.edu	37	chr12	53900561	53900561	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	catatcaagggatgacatgtCacttcttcccaaagcgttga	12	11	8	10	1	3	2	2	2	1	0	4	3	4	3	1	1	1	1	1	1	3	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:53900561C>T	ENST00000267017.3	-	3	504	c.341G>A	c.(340-342)tGa>tAa	p.*114*	RP11-793H13.10_ENST00000591834.1_3'UTR|NPFF_ENST00000609999.1_Silent_p.*117*	NM_003717.2	NP_003708.1	O15130	NPFF_HUMAN	neuropeptide FF-amide peptide precursor	0					acute inflammatory response to antigenic stimulus (GO:0002438)|maternal process involved in female pregnancy (GO:0060135)|negative regulation of appetite (GO:0032099)|negative regulation of heart rate (GO:0010459)|negative regulation of insulin secretion (GO:0046676)|neuropeptide signaling pathway (GO:0007218)|positive regulation of blood pressure (GO:0045777)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of membrane depolarization (GO:0003254)|regulation of sensory perception of pain (GO:0051930)|response to drug (GO:0042493)|response to morphine (GO:0043278)|somatostatin secretion (GO:0070253)|spinal cord development (GO:0021510)|synaptic transmission (GO:0007268)|vasopressin secretion (GO:0030103)	axon terminus (GO:0043679)|dendrite (GO:0030425)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|perikaryon (GO:0043204)|vesicle (GO:0031982)	receptor binding (GO:0005102)			haematopoietic_and_lymphoid_tissue(1)|prostate(1)|urinary_tract(1)	3						GATGACATGTCACTTCTTCCC	0.522																																						ENST00000267017.3																			0				haematopoietic_and_lymphoid_tissue(1)|prostate(1)|urinary_tract(1)	3						c.(340-342)tGa>tAa		neuropeptide FF-amide peptide precursor							98	93	95					12																	53900561		2203	4300	6503	SO:0001819	synonymous_variant	8620				neuropeptide signaling pathway|synaptic transmission	extracellular region|soluble fraction	neuropeptide hormone activity	g.chr12:53900561C>T	AF005271	CCDS8862.1	12q13.13	2013-02-26			ENSG00000139574	ENSG00000139574		"Endogenous ligands"	7901	protein-coding gene	gene with protein product		604643				9224703	Standard	NM_003717		Approved	FMRFAL	uc001sdw.1	O15130	OTTHUMG00000169856	ENST00000267017.3:c.341G>A	12.37:g.53900561C>T						RP11-793H13.10_ENST00000591834.1_3'UTR	p.*114*	NM_003717.2	NP_003708.1	O15130	NPFF_HUMAN			3	504	-			0					Q3SXL4	Silent	SNP	ENST00000267017.3	37	c.341G>A	CCDS8862.1																																																																																				0.522	NPFF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406301.1	NM_003717		13	57	0	0	0	1	0	13	57					T	53900561	C	T	53900561	2	4	435	1	0	0	0	0	0	0	0	1	10576	837	29	3		3	NPFF	12	53900561	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	20236	53900561	79951334	5729	26654											
HOXC12	3228	broad.mit.edu	37	chr12	54350229	54350229	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgagttcatcacacgccagcGccggagggaactctcagacc	10	5	11	15	4	3	1	3	0	1	1	4	4	3	3	3	2	2	1	3	2	1	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:54350229G>A	ENST00000243103.3	+	2	824	c.728G>A	c.(727-729)cGc>cAc	p.R243H	AC012531.23_ENST00000603432.1_lincRNA	NM_173860.1	NP_776272.1	P31275	HXC12_HUMAN	homeobox C12	243					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			large_intestine(3)|lung(8)|upper_aerodigestive_tract(1)	12						ACACGCCAGCGCCGGAGGGAA	0.522																																						ENST00000243103.3																			0				large_intestine(3)|lung(8)|upper_aerodigestive_tract(1)	12						c.(727-729)cGc>cAc		homeobox C12							103	110	107					12																	54350229		2203	4300	6503	SO:0001583	missense	3228				multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr12:54350229G>A	AF328962	CCDS8866.1	12q13.13	2011-06-20	2005-12-22		ENSG00000123407	ENSG00000123407		"Homeoboxes / ANTP class : HOXL subclass"	5124	protein-coding gene	gene with protein product		142975	"homeo box C12"	HOX3, HOX3F, HOC3F		1973146, 1358459	Standard	NM_173860		Approved		uc010soq.2	P31275	OTTHUMG00000160010	ENST00000243103.3:c.728G>A	12.37:g.54350229G>A	ENSP00000243103:p.Arg243His						p.R243H	NM_173860.1	NP_776272.1	P31275	HXC12_HUMAN			2	824	+			243					Q9BXJ6	Missense_Mutation	SNP	ENST00000243103.3	37	c.728G>A	CCDS8866.1	.	.	.	.	.	.	.	.	.	.	G	24.3	4.513584	0.85389	.	.	ENSG00000123407	ENST00000243103	D	0.96168	-3.93	4.2	4.2	0.49525	Homeobox, eukaryotic (1);Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.000000	0.64402	U	0.000012	D	0.97873	0.9301	M	0.89163	3.01	0.58432	D	0.999997	D	0.89917	1.0	D	0.81914	0.995	D	0.98994	1.0809	10	0.87932	D	0	.	15.6972	0.77509	0.0:0.0:1.0:0.0	.	243	P31275	HXC12_HUMAN	H	243	ENSP00000243103:R243H	ENSP00000243103:R243H	R	+	2	0	HOXC12	52636496	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.591000	0.67536	2.052000	0.61016	0.462000	0.41574	CGC		0.522	HOXC12-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358868.2	NM_173860		35	43	0	0	0	1	0	35	43					A	54350229	G	A	54350229	3	1	435	1	0	0	0	0	1	0	0	0	7311	1087	38	1	734	1	HOXC12	12	54350229	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	449668	54350229	79501666	5730	26655											
HOXC4	3221	broad.mit.edu	37	chr12	54448817	54448817	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aatctggttccaaaaccgtcGcatgaaatggaagaaggacc	15	7	10	9	2	1	2	0	1	1	1	3	4	2	4	3	3	1	2	3	3	6	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:54448817G>A	ENST00000430889.2	+	2	669	c.623G>A	c.(622-624)cGc>cAc	p.R208H	HOXC4_ENST00000609810.1_Missense_Mutation_p.R208H|HOXC4_ENST00000303406.4_Missense_Mutation_p.R208H	NM_153633.2	NP_705897.1	P09017	HXC4_HUMAN	homeobox C4	208					multicellular organismal development (GO:0007275)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	13						CAAAACCGTCGCATGAAATGG	0.587																																						ENST00000430889.2																			0				cervix(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	13						c.(622-624)cGc>cAc		homeobox C4							34	33	33					12																	54448817		2203	4300	6503	SO:0001583	missense	3221					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr12:54448817G>A		CCDS8873.1	12q13.13	2011-06-20	2005-12-22		ENSG00000198353	ENSG00000198353		"Homeoboxes / ANTP class : HOXL subclass"	5126	protein-coding gene	gene with protein product		142974	"homeo box C4"	HOX3, HOX3E		1973146, 1358459	Standard	NM_014620		Approved		uc001sex.3	P09017	OTTHUMG00000160036	ENST00000430889.2:c.623G>A	12.37:g.54448817G>A	ENSP00000399808:p.Arg208His					HOXC4_ENST00000303406.4_Missense_Mutation_p.R208H	p.R208H	NM_153633.2	NP_705897.1	P09017	HXC4_HUMAN			2	669	+			208						Missense_Mutation	SNP	ENST00000430889.2	37	c.623G>A	CCDS8873.1	.	.	.	.	.	.	.	.	.	.	G	17.98	3.521244	0.64747	.	.	ENSG00000198353	ENST00000303406;ENST00000430889	D;D	0.99158	-5.5;-5.5	3.38	3.38	0.38709	Homeobox, eukaryotic (1);Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);Homeobox, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.99718	0.9891	H	0.99985	5.24	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96348	0.9256	10	0.87932	D	0	.	14.0521	0.64745	0.0:0.0:1.0:0.0	.	208	P09017	HXC4_HUMAN	H	208	ENSP00000305973:R208H;ENSP00000399808:R208H	ENSP00000305973:R208H	R	+	2	0	HOXC4	52735084	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.548000	0.98103	1.904000	0.55121	0.448000	0.29417	CGC		0.587	HOXC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358963.1			9	11	0	0	0	1	0	9	11					A	54448817	G	A	54448817	3	1	435	1	0	0	0	0	1	0	0	0	7313	1087	38	1	629	1	HOXC4	12	54448817	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	98588	54448817	79403078	5731	26656											
ZNF385A	25946	broad.mit.edu	37	chr12	54764451	54764451	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agacttcttgtgacggctcaGtagtgggttgggcttcccgg	5	12	15	9	2	2	2	1	1	1	1	3	2	3	2	1	4	0	4	1	4	1	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:54764451G>A	ENST00000338010.5	-	7	942	c.889C>T	c.(889-891)Ctg>Ttg	p.L297L	ZNF385A_ENST00000551771.1_Silent_p.L196L|ZNF385A_ENST00000546970.1_Silent_p.L277L|RP11-753H16.3_ENST00000550474.1_RNA|RP11-753H16.5_ENST00000552785.1_RNA|ZNF385A_ENST00000552382.1_5'UTR|ZNF385A_ENST00000394313.2_Silent_p.L277L|ZNF385A_ENST00000551109.1_Silent_p.L277L|ZNF385A_ENST00000352268.6_Silent_p.L216L	NM_001130967.1	NP_001124439.1	Q96PM9	Z385A_HUMAN	zinc finger protein 385A	297	Necessary for binding to ITPR1, CEBPA and p53/TP53 mRNAs. {ECO:0000250}.				apoptotic process (GO:0006915)|cellular response to DNA damage stimulus (GO:0006974)|hemostasis (GO:0007599)|learning or memory (GO:0007611)|locomotory behavior (GO:0007626)|megakaryocyte development (GO:0035855)|mRNA localization resulting in posttranscriptional regulation of gene expression (GO:0010609)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:1902166)|platelet alpha granule organization (GO:0070889)|platelet formation (GO:0030220)|positive regulation of DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:1902164)|positive regulation of fat cell differentiation (GO:0045600)|regulation of cytoplasmic translation (GO:2000765)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	DNA binding (GO:0003677)|mRNA 3'-UTR binding (GO:0003730)|p53 binding (GO:0002039)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|ovary(1)|urinary_tract(1)	15						TGACGGCTCAGTAGTGGGTTG	0.701											OREG0021894	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000546970.1																			0				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|ovary(1)|urinary_tract(1)	15						c.(829-831)Ctg>Ttg		zinc finger protein 385A							22	27	26					12																	54764451		2202	4296	6498	SO:0001819	synonymous_variant	25946				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding|zinc ion binding	g.chr12:54764451G>A	AF304052	CCDS8879.1, CCDS44910.1, CCDS44911.1	12q13.13	2012-10-05	2007-12-06	2007-12-06		ENSG00000161642			17521	protein-coding gene	gene with protein product		609124	"zinc finger protein 385"	ZNF385			Standard	XM_005268785		Approved	DKFZp586G1122, Hzf, ZFP385	uc001sfy.3	Q96PM9	OTTHUMG00000169840	ENST00000338010.5:c.889C>T	12.37:g.54764451G>A			OREG0021894	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1002	ZNF385A_ENST00000394313.2_Silent_p.L277L|ZNF385A_ENST00000551109.1_Silent_p.L277L|ZNF385A_ENST00000551771.1_Silent_p.L196L|ZNF385A_ENST00000552382.1_5'UTR|RP11-753H16.5_ENST00000552785.1_RNA|RP11-753H16.3_ENST00000550474.1_RNA|ZNF385A_ENST00000352268.6_Silent_p.L216L|ZNF385A_ENST00000338010.5_Silent_p.L297L	p.L277L			Q96PM9	Z385A_HUMAN			8	1118	-			277					B2RDN5|B4DKH2|F1T0F1|J3KNS3|Q5VH53|Q9H7R6|Q9UFU3	Silent	SNP	ENST00000338010.5	37	c.829C>T	CCDS44911.1																																																																																				0.701	ZNF385A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406162.1	NM_015481		9	9	0	0	0	1	0	9	9					A	54764451	G	A	54764451	2	1	435	1	0	0	0	0	0	0	0	1	17873	1020	36	3		3	ZNF385A	12	54764451	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	315634	54764451	79087444	5732	26657											
ITGA5	3678	broad.mit.edu	37	chr12	54803281	54803281	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccctcaccaagatggaggaGccatgggctcgaactgttgc	9	7	12	13	1	1	1	1	0	0	1	2	4	1	3	4	3	3	2	4	3	2	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:54803281G>T	ENST00000293379.4	-	3	711	c.450C>A	c.(448-450)ggC>ggA	p.G150G	ITGA5_ENST00000547744.1_5'Flank|RP11-753H16.5_ENST00000552785.1_RNA|RP11-753H16.3_ENST00000550474.1_RNA	NM_002205.2	NP_002196.2	P08648	ITA5_HUMAN	integrin, alpha 5 (fibronectin receptor, alpha polypeptide)	150					angiogenesis (GO:0001525)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-cell adhesion mediated by integrin (GO:0033631)|cell-substrate adhesion (GO:0031589)|cell-substrate junction assembly (GO:0007044)|endodermal cell differentiation (GO:0035987)|extracellular matrix organization (GO:0030198)|heterophilic cell-cell adhesion (GO:0007157)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|memory (GO:0007613)|negative regulation of anoikis (GO:2000811)|positive regulation of cell migration (GO:0030335)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|viral process (GO:0016032)|wound healing, spreading of epidermal cells (GO:0035313)	alphav-beta3 integrin-vitronectin complex (GO:0071062)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|focal adhesion (GO:0005925)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|synapse (GO:0045202)	metal ion binding (GO:0046872)|platelet-derived growth factor receptor binding (GO:0005161)|vascular endothelial growth factor receptor 2 binding (GO:0043184)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	34						AGATGGAGGAGCCATGGGCTC	0.642																																						ENST00000293379.4																			0				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	34						c.(448-450)ggC>ggA		integrin, alpha 5 (fibronectin receptor, alpha polypeptide)							59	53	55					12																	54803281		2203	4300	6503	SO:0001819	synonymous_variant	3678				angiogenesis|axon guidance|blood coagulation|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte migration|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|wound healing, spreading of epidermal cells	alphav-beta3 integrin-vitronectin complex|integrin complex|ruffle	platelet-derived growth factor receptor binding|receptor activity|vascular endothelial growth factor receptor 2 binding	g.chr12:54803281G>T		CCDS8880.1	12q11-q13	2010-03-23				ENSG00000161638		"CD molecules", "Integrins"	6141	protein-coding gene	gene with protein product		135620		FNRA		2454952	Standard	NM_002205		Approved	CD49e	uc001sga.3	P08648	OTTHUMG00000169841	ENST00000293379.4:c.450C>A	12.37:g.54803281G>T						RP11-753H16.5_ENST00000552785.1_RNA|RP11-753H16.3_ENST00000550474.1_RNA	p.G150G	NM_002205.2	NP_002196.2	P08648	ITA5_HUMAN			3	711	-			150					Q96HA5	Silent	SNP	ENST00000293379.4	37	c.450C>A	CCDS8880.1																																																																																				0.642	ITGA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406174.1			5	9	1	0	0.014758	1	0.0148771	5	9					T	54803281	G	T	54803281	2	4	435	1	0	0	0	0	0	0	0	1	7879	958	34	5		5	ITGA5	12	54803281	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	38830	54803281	79048614	5733	26658											
DCD	117159	broad.mit.edu	37	chr12	55038967	55038967	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atatactcacctttacccacGctttctagatcttcgactgc	9	14	4	14	2	3	1	1	0	2	1	4	2	3	1	2	0	3	1	2	0	4	7			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:55038967G>A	ENST00000293371.6	-	4	468	c.279C>T	c.(277-279)agC>agT	p.S93S	DCD_ENST00000456047.2_Silent_p.S93S	NM_053283.2	NP_444513.1	P81605	DCD_HUMAN	dermcidin	93					defense response to bacterium (GO:0042742)|defense response to fungus (GO:0050832)|killing of cells of other organism (GO:0031640)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	peptidase activity (GO:0008233)|poly(A) RNA binding (GO:0044822)	p.S93S(1)		large_intestine(2)|lung(2)|ovary(1)|skin(1)	6		Myeloproliferative disorder(1001;0.0255)				CTTTACCCACGCTTTCTAGAT	0.507																																						ENST00000456047.2																			1	Substitution - coding silent(1)	p.S93S(1)	large_intestine(1)	large_intestine(2)|lung(2)|ovary(1)|skin(1)	6						c.(277-279)agC>agT		dermcidin							162	147	152					12																	55038967		2203	4300	6503	SO:0001819	synonymous_variant	117159				defense response to bacterium|defense response to fungus|killing of cells of other organism	extracellular region	protein binding	g.chr12:55038967G>A	AF144011	CCDS8884.1, CCDS73478.1	12q13.1	2008-08-04				ENSG00000161634			14669	protein-coding gene	gene with protein product	"proteolysis inducing factor", "preproteolysin", "diffusible survival/evasion peptide", "survival promoting peptide"	606634				11694882	Standard	XM_005268627		Approved	AIDD, PIF, DSEP, HCAP, DCD-1	uc001sgj.3	P81605	OTTHUMG00000169937	ENST00000293371.6:c.279C>T	12.37:g.55038967G>A						DCD_ENST00000293371.6_Silent_p.S93S	p.S93S			P81605	DCD_HUMAN			4	468	-		Myeloproliferative disorder(1001;0.0255)	93					A5JHP2|A5JHP3|P58461|Q53YJ2	Silent	SNP	ENST00000293371.6	37	c.279C>T	CCDS8884.1																																																																																				0.507	DCD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406617.1	NM_053283		39	56	0	0	0	1	0	39	56					A	55038967	G	A	55038967	2	1	435	1	0	0	0	0	0	0	0	1	4283	1078	38	1		1	DCD	12	55038967	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	235686	55038967	78812928	5734	26659											
MUCL1	118430	broad.mit.edu	37	chr12	55248906	55248906	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcttctctttcagagaatcCgacaacagctgctccagctg	9	12	7	13	1	3	1	1	0	2	1	6	3	5	1	2	0	4	3	2	0	2	3	rs201140321	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:55248906C>T	ENST00000308796.6	+	2	111	c.65C>T	c.(64-66)cCg>cTg	p.P22L	MUCL1_ENST00000547990.1_3'UTR|MUCL1_ENST00000546809.1_Missense_Mutation_p.P17L	NM_058173.2	NP_477521.1	Q96DR8	MUCL1_HUMAN	mucin-like 1	22					cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|membrane (GO:0016020)				breast(1)|kidney(1)|lung(1)	3						TCAGAGAATCCGACAACAGCT	0.418													C|||	2	0.000399361	0	0.0029	5008	,	,		20684	0		0	False		,,,				2504	0					ENST00000308796.6																			0				breast(1)|kidney(1)|lung(1)	3						c.(64-66)cCg>cTg		mucin-like 1							86	78	81					12																	55248906		2203	4300	6503	SO:0001583	missense	118430					extracellular region|membrane		g.chr12:55248906C>T	AF414087	CCDS8885.1	12q13.2	2007-07-02							30588	protein-coding gene	gene with protein product	"small breast epithelial mucin"	610857				12019145	Standard	NM_058173		Approved	SBEM	uc001sgk.3	Q96DR8		ENST00000308796.6:c.65C>T	12.37:g.55248906C>T	ENSP00000311364:p.Pro22Leu					MUCL1_ENST00000546809.1_Missense_Mutation_p.P17L|MUCL1_ENST00000547990.1_3'UTR	p.P22L	NM_058173.2	NP_477521.1	Q96DR8	MUCL1_HUMAN			2	111	+			22					Q0VG95|Q32ZB5	Missense_Mutation	SNP	ENST00000308796.6	37	c.65C>T	CCDS8885.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	1.204	-0.631536	0.03584	.	.	ENSG00000172551	ENST00000546809;ENST00000308796	.	.	.	0.942	-0.0331	0.13902	.	0.700839	0.09764	U	0.758865	T	0.21103	0.0508	.	.	.	0.09310	N	1	B	0.31040	0.305	B	0.15484	0.013	T	0.19745	-1.0296	8	0.87932	D	0	.	3.2937	0.06958	0.0:0.6876:0.0:0.3124	.	22	Q96DR8	MUCL1_HUMAN	L	17;22	.	ENSP00000311364:P22L	P	+	2	0	MUCL1	53535173	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.096000	0.01349	-0.038000	0.13624	0.561000	0.74099	CCG		0.418	MUCL1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406062.1	NM_058173		10	23	0	0	0	1	0	10	23					T	55248906	C	T	55248906	3	4	435	1	0	0	0	0	1	0	0	0	9982	652	23	2	71	2	MUCL1	12	55248906	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	209939	55248906	78602989	5735	26660											
OR6C3	254786	broad.mit.edu	37	chr12	55726304	55726304	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgacaaaaggaatagctattCtcaatacatctgttgccccc	13	11	6	11	0	2	1	1	1	2	0	3	2	2	2	2	1	3	2	2	1	7	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:55726304C>T	ENST00000379667.1	+	1	820	c.820C>T	c.(820-822)Ctc>Ttc	p.L274F		NM_054104.1	NP_473445.1	Q9NZP0	OR6C3_HUMAN	olfactory receptor, family 6, subfamily C, member 3	274					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|prostate(1)|skin(2)	11						AATAGCTATTCTCAATACATC	0.378																																						ENST00000379667.1																			0				endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|prostate(1)|skin(2)	11						c.(820-822)Ctc>Ttc		olfactory receptor, family 6, subfamily C, member 3							89	87	88					12																	55726304		2203	4300	6503	SO:0001583	missense	254786				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr12:55726304C>T	AF179770	CCDS31819.1	12q13.2	2013-09-23			ENSG00000205329	ENSG00000205329		"GPCR / Class A : Olfactory receptors"	15437	protein-coding gene	gene with protein product							Standard	NM_054104		Approved	OST709	uc010spj.2	Q9NZP0	OTTHUMG00000169861	ENST00000379667.1:c.820C>T	12.37:g.55726304C>T	ENSP00000368989:p.Leu274Phe						p.L274F	NM_054104.1	NP_473445.1	Q9NZP0	OR6C3_HUMAN			1	820	+			274						Missense_Mutation	SNP	ENST00000379667.1	37	c.820C>T	CCDS31819.1	.	.	.	.	.	.	.	.	.	.	C	10.93	1.490049	0.26686	.	.	ENSG00000205329	ENST00000379667	T	0.00174	8.62	5.13	4.23	0.50019	GPCR, rhodopsin-like superfamily (1);	0.000000	0.43260	D	0.000595	T	0.00210	0.0006	L	0.31207	0.915	0.09310	N	1	B	0.28850	0.225	B	0.41202	0.35	T	0.32719	-0.9896	10	0.62326	D	0.03	.	9.5885	0.39532	0.1441:0.7811:0.0:0.0748	.	274	Q9NZP0	OR6C3_HUMAN	F	274	ENSP00000368989:L274F	ENSP00000368989:L274F	L	+	1	0	OR6C3	54012571	0.000000	0.05858	0.890000	0.34922	0.192000	0.23643	-0.459000	0.06728	1.500000	0.48636	0.650000	0.86243	CTC		0.378	OR6C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406309.1			23	31	0	0	0	1	0	23	31					T	55726304	C	T	55726304	3	4	435	1	0	0	0	0	1	0	0	0	11192	913	32	3	822	3	OR6C3	12	55726304	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	477398	55726304	78125591	5736	26661											
OR6C65	403282	broad.mit.edu	37	chr12	55795143	55795143	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtgtagcagtgcttaatacCtctgttgctcctatgttgaa	8	15	10	8	0	1	1	0	1	1	0	2	1	2	1	2	1	4	6	2	1	5	6	rs138141433		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:55795143C>A	ENST00000379665.2	+	1	930	c.831C>A	c.(829-831)acC>acA	p.T277T		NM_001005518.1	NP_001005518.1	A6NJZ3	O6C65_HUMAN	olfactory receptor, family 6, subfamily C, member 65	277						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(1)|endometrium(2)|large_intestine(3)|lung(9)	15						TGCTTAATACCTCTGTTGCTC	0.368																																						ENST00000379665.2																			0				cervix(1)|endometrium(2)|large_intestine(3)|lung(9)	15						c.(829-831)acC>acA		olfactory receptor, family 6, subfamily C, member 65							82	78	80					12																	55795143		2203	4300	6503	SO:0001819	synonymous_variant	403282				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr12:55795143C>A		CCDS31821.1	12q13.2	2013-09-23			ENSG00000205328	ENSG00000205328		"GPCR / Class A : Olfactory receptors"	31295	protein-coding gene	gene with protein product							Standard	NM_001005518		Approved		uc010spl.2	A6NJZ3	OTTHUMG00000169955	ENST00000379665.2:c.831C>A	12.37:g.55795143C>A							p.T277T	NM_001005518.1	NP_001005518.1	A6NJZ3	O6C65_HUMAN			1	930	+			277					B2RNH9	Silent	SNP	ENST00000379665.2	37	c.831C>A	CCDS31821.1																																																																																				0.368	OR6C65-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406674.1			14	31	1	0	4.36969e-10	1	4.65946e-10	14	31					A	55795143	C	A	55795143	2	1	435	1	0	0	0	0	0	0	0	1	11195	668	24	5		5	OR6C65	12	55795143	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	68839	55795143	78056752	5737	26662											
OR10P1	121130	broad.mit.edu	37	chr12	56031342	56031342	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcacctcttacatccgcatcCtgggtgccatcctagcaatg	8	11	7	15	1	2	0	1	0	1	0	5	0	5	0	5	1	3	2	5	1	3	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:56031342C>A	ENST00000309675.2	+	1	699	c.667C>A	c.(667-669)Ctg>Atg	p.L223M	RP11-644F5.16_ENST00000556606.1_RNA	NM_206899.1	NP_996782.1	Q8NGE3	O10P1_HUMAN	olfactory receptor, family 10, subfamily P, member 1	223						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(4)|large_intestine(3)|lung(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	26						CATCCGCATCCTGGGTGCCAT	0.552																																						ENST00000309675.2																			0				autonomic_ganglia(1)|central_nervous_system(2)|endometrium(4)|large_intestine(3)|lung(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	26						c.(667-669)Ctg>Atg		olfactory receptor, family 10, subfamily P, member 1							123	104	110					12																	56031342		2203	4300	6503	SO:0001583	missense	121130				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr12:56031342C>A	BK004259	CCDS31828.1	12q13.13	2012-08-09		2004-03-10		ENSG00000175398		"GPCR / Class A : Olfactory receptors"	15378	protein-coding gene	gene with protein product				OR10P1P, OR10P2P, OR10P3P			Standard	NM_206899		Approved	OST701	uc010spq.2	Q8NGE3	OTTHUMG00000169961	ENST00000309675.2:c.667C>A	12.37:g.56031342C>A	ENSP00000308082:p.Leu223Met						p.L223M	NM_206899.1	NP_996782.1	Q8NGE3	O10P1_HUMAN			1	699	+			223					B9EGY4	Missense_Mutation	SNP	ENST00000309675.2	37	c.667C>A	CCDS31828.1	.	.	.	.	.	.	.	.	.	.	C	8.657	0.899701	0.17686	.	.	ENSG00000175398	ENST00000309675	T	0.00237	8.47	4.44	2.57	0.30868	GPCR, rhodopsin-like superfamily (1);	0.000000	0.37623	N	0.002009	T	0.00468	0.0015	M	0.86097	2.795	0.25970	N	0.982518	D	0.76494	0.999	D	0.75484	0.986	T	0.44205	-0.9343	10	0.72032	D	0.01	.	3.2804	0.06913	0.1783:0.5524:0.173:0.0963	.	223	Q8NGE3	O10P1_HUMAN	M	223	ENSP00000308082:L223M	ENSP00000308082:L223M	L	+	1	2	OR10P1	54317609	0.000000	0.05858	0.019000	0.16419	0.002000	0.02628	-1.227000	0.02950	0.598000	0.29829	-0.304000	0.09214	CTG		0.552	OR10P1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406680.1			12	50	1	0	1.08611e-07	1	1.14056e-07	12	50					A	56031342	C	A	56031342	3	1	435	1	0	0	0	0	1	0	0	0	10915	680	24	5	669	5	OR10P1	12	56031342	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	236199	56031342	77820553	5738	26663											
ITGA7	3679	broad.mit.edu	37	chr12	56088268	56088268	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tccagttccgtggtctcaatGctgatcccggaggtgctaag	7	11	12	11	2	1	1	1	1	1	0	5	2	4	2	3	3	2	3	3	3	2	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:56088268G>A	ENST00000555728.1	-	18	2476	c.2448C>T	c.(2446-2448)agC>agT	p.S816S	ITGA7_ENST00000394230.2_Silent_p.S776S|ITGA7_ENST00000257880.7_Silent_p.S816S|ITGA7_ENST00000452168.2_Silent_p.S679S|ITGA7_ENST00000553804.1_Silent_p.S776S|ITGA7_ENST00000394229.2_Silent_p.S772S|ITGA7_ENST00000257879.6_Silent_p.S772S|ITGA7_ENST00000347027.6_Silent_p.S766S			Q13683	ITA7_HUMAN	integrin, alpha 7	816					blood vessel morphogenesis (GO:0048514)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|endodermal cell differentiation (GO:0035987)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|muscle organ development (GO:0007517)|regulation of cell shape (GO:0008360)|skeletal muscle tissue development (GO:0007519)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|integrin alpha7-beta1 complex (GO:0034677)|muscle tendon junction (GO:0005927)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)	metal ion binding (GO:0046872)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(16)|ovary(2)|prostate(2)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						TGGTCTCAATGCTGATCCCGG	0.572																																						ENST00000257880.7																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(16)|ovary(2)|prostate(2)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						c.(2446-2448)agC>agT		integrin, alpha 7							79	70	73					12																	56088268		2203	4300	6503	SO:0001819	synonymous_variant	3679				cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development|regulation of cell shape	integrin complex	receptor activity	g.chr12:56088268G>A		CCDS8888.1, CCDS44914.1, CCDS55832.1	12q13	2014-09-17				ENSG00000135424		"Integrins"	6143	protein-coding gene	gene with protein product		600536				7607681	Standard	NM_002206		Approved		uc001shh.3	Q13683		ENST00000555728.1:c.2448C>T	12.37:g.56088268G>A						ITGA7_ENST00000555728.1_Silent_p.S816S|ITGA7_ENST00000257879.6_Silent_p.S772S|ITGA7_ENST00000553804.1_Silent_p.S776S|ITGA7_ENST00000452168.2_Silent_p.S679S|ITGA7_ENST00000394229.2_Silent_p.S772S|ITGA7_ENST00000394230.2_Silent_p.S776S|ITGA7_ENST00000347027.6_Silent_p.S766S	p.S816S			Q13683	ITA7_HUMAN			18	2667	-			816					B4E3U0|C9JMD3|C9JMZ6|O43197|Q86W93|Q9NY89|Q9UET0|Q9UEV2	Silent	SNP	ENST00000555728.1	37	c.2448C>T																																																																																					0.572	ITGA7-014	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000410138.1	NM_002206		6	7	0	0	0	1	0	6	7					A	56088268	G	A	56088268	2	1	435	1	0	0	0	0	0	0	0	1	7881	1310	46	3		3	ITGA7	12	56088268	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	56926	56088268	77763627	5739	26664											
ITGA7	3679	broad.mit.edu	37	chr12	56092305	56092305	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gtacacatacacagcaccccCcagctcttcttggcgctcaa	10	8	6	17	1	3	0	1	0	2	0	3	0	3	0	3	1	4	4	3	1	3	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:56092305C>A	ENST00000555728.1	-	8	1214	c.1186G>T	c.(1186-1188)Ggg>Tgg	p.G396W	ITGA7_ENST00000394230.2_Missense_Mutation_p.G356W|ITGA7_ENST00000257880.7_Missense_Mutation_p.G396W|ITGA7_ENST00000452168.2_Missense_Mutation_p.G259W|ITGA7_ENST00000553804.1_Missense_Mutation_p.G356W|ITGA7_ENST00000394229.2_Missense_Mutation_p.G352W|ITGA7_ENST00000257879.6_Missense_Mutation_p.G352W|ITGA7_ENST00000347027.6_Missense_Mutation_p.G352W			Q13683	ITA7_HUMAN	integrin, alpha 7	396					blood vessel morphogenesis (GO:0048514)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|endodermal cell differentiation (GO:0035987)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|muscle organ development (GO:0007517)|regulation of cell shape (GO:0008360)|skeletal muscle tissue development (GO:0007519)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|integrin alpha7-beta1 complex (GO:0034677)|muscle tendon junction (GO:0005927)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)	metal ion binding (GO:0046872)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(16)|ovary(2)|prostate(2)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						ACAGCACCCCCCAGCTCTTCT	0.602																																						ENST00000257880.7																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(16)|ovary(2)|prostate(2)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						c.(1186-1188)Ggg>Tgg		integrin, alpha 7							62	70	67					12																	56092305		2203	4300	6503	SO:0001583	missense	3679				cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development|regulation of cell shape	integrin complex	receptor activity	g.chr12:56092305C>A		CCDS8888.1, CCDS44914.1, CCDS55832.1	12q13	2014-09-17				ENSG00000135424		"Integrins"	6143	protein-coding gene	gene with protein product		600536				7607681	Standard	NM_002206		Approved		uc001shh.3	Q13683		ENST00000555728.1:c.1186G>T	12.37:g.56092305C>A	ENSP00000452387:p.Gly396Trp					ITGA7_ENST00000555728.1_Missense_Mutation_p.G396W|ITGA7_ENST00000257879.6_Missense_Mutation_p.G352W|ITGA7_ENST00000553804.1_Missense_Mutation_p.G356W|ITGA7_ENST00000452168.2_Missense_Mutation_p.G259W|ITGA7_ENST00000394229.2_Missense_Mutation_p.G352W|ITGA7_ENST00000394230.2_Missense_Mutation_p.G356W|ITGA7_ENST00000347027.6_Missense_Mutation_p.G352W	p.G396W			Q13683	ITA7_HUMAN			8	1405	-			396					B4E3U0|C9JMD3|C9JMZ6|O43197|Q86W93|Q9NY89|Q9UET0|Q9UEV2	Missense_Mutation	SNP	ENST00000555728.1	37	c.1186G>T		.	.	.	.	.	.	.	.	.	.	C	24.7	4.555825	0.86231	.	.	ENSG00000135424	ENST00000553804;ENST00000257879;ENST00000347027;ENST00000452168;ENST00000257880;ENST00000394230;ENST00000394229;ENST00000353687;ENST00000555728	T;T;T;T;T;T;T;T	0.73897	-0.79;-0.79;-0.79;-0.79;-0.79;-0.79;-0.79;-0.79	4.93	4.93	0.64822	.	0.000000	0.64402	D	0.000001	D	0.88134	0.6355	M	0.88105	2.93	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	D	0.90398	0.4400	10	0.87932	D	0	.	16.0142	0.80425	0.0:1.0:0.0:0.0	.	259;396;356;415	Q13683-13;Q13683;Q13683-3;Q4LE35	.;ITA7_HUMAN;.;.	W	356;352;352;259;396;356;352;396;396	ENSP00000452120:G356W;ENSP00000257879:G352W;ENSP00000343009:G352W;ENSP00000393844:G259W;ENSP00000257880:G396W;ENSP00000377777:G356W;ENSP00000377776:G352W;ENSP00000452387:G396W	ENSP00000257879:G352W	G	-	1	0	ITGA7	54378572	1.000000	0.71417	1.000000	0.80357	0.883000	0.51084	7.736000	0.84948	2.456000	0.83038	0.561000	0.74099	GGG		0.602	ITGA7-014	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000410138.1	NM_002206		6	50	1	0	0.00198382	1	0.0020125	6	50					A	56092305	C	A	56092305	3	1	435	1	0	0	0	0	1	0	0	0	7881	623	22	5	2435	5	ITGA7	12	56092305	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	4037	56092305	77759590	5740	26665											
GDF11	10220	broad.mit.edu	37	chr12	56143335	56143335	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaacacaaaacgttcccggcGgaacctgggtctggactgcg	10	6	13	12	4	1	0	0	0	1	0	2	3	2	2	2	4	4	1	2	4	4	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:56143335G>A	ENST00000257868.5	+	3	930	c.893G>A	c.(892-894)cGg>cAg	p.R298Q		NM_005811.3	NP_005802.1	O95390	GDF11_HUMAN	growth differentiation factor 11	298					camera-type eye morphogenesis (GO:0048593)|cell maturation (GO:0048469)|growth (GO:0040007)|mesoderm development (GO:0007498)|metanephros development (GO:0001656)|negative regulation of cell differentiation (GO:0045596)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|palate development (GO:0060021)|pancreas development (GO:0031016)|skeletal system development (GO:0001501)|spinal cord anterior/posterior patterning (GO:0021512)|ureteric bud development (GO:0001657)	extracellular space (GO:0005615)|protein complex (GO:0043234)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(1)|ovary(2)|prostate(1)|urinary_tract(1)	12						CGTTCCCGGCGGAACCTGGGT	0.557																																						ENST00000257868.5																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(1)|ovary(2)|prostate(1)|urinary_tract(1)	12						c.(892-894)cGg>cAg		growth differentiation factor 11							81	82	81					12																	56143335		2203	4300	6503	SO:0001583	missense	0				growth|mesoderm development|skeletal system development	extracellular space	cytokine activity|growth factor activity	g.chr12:56143335G>A	AF100907	CCDS8891.1	12q13.13	2008-08-01							4216	protein-coding gene	gene with protein product		603936				15988002	Standard	NM_005811		Approved	BMP-11	uc001shq.3	O95390		ENST00000257868.5:c.893G>A	12.37:g.56143335G>A	ENSP00000257868:p.Arg298Gln						p.R298Q	NM_005811.3	NP_005802.1	O95390	GDF11_HUMAN			3	930	+			298					Q9UID1|Q9UID2	Missense_Mutation	SNP	ENST00000257868.5	37	c.893G>A	CCDS8891.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	35|35	5.568493|5.568493	0.96540|0.96540	.|.	.|.	ENSG00000135414|ENSG00000135414	ENST00000546799|ENST00000257868	.|D	.|0.81821	.|-1.54	4.95|4.95	4.95|4.95	0.65309|0.65309	.|Transforming growth factor-beta, C-terminal (1);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.90253|0.90253	0.6952|0.6952	M|M	0.85373|0.85373	2.75|2.75	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.74023	.|0.982	D|D	0.91830|0.91830	0.5474|0.5474	5|10	.|0.87932	.|D	.|0	-17.0608|-17.0608	16.0718|16.0718	0.80941|0.80941	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|298	.|O95390	.|GDF11_HUMAN	R|Q	271|298	.|ENSP00000257868:R298Q	.|ENSP00000257868:R298Q	G|R	+|+	1|2	0|0	GDF11|GDF11	54429602|54429602	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.991000|0.991000	0.79684|0.79684	9.869000|9.869000	0.99810|0.99810	2.470000|2.470000	0.83445|0.83445	0.561000|0.561000	0.74099|0.74099	GGA|CGG		0.557	GDF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407842.3			48	44	0	0	0	1	0	48	44					A	56143335	G	A	56143335	3	1	435	1	0	0	0	0	1	0	0	0	6312	1116	39	2	903	2	GDF11	12	56143335	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	51030	56143335	77708560	5741	26666											
GDF11	10220	broad.mit.edu	37	chr12	56143436	56143436	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcggctgggactggatcatcGcacctaagcgctacaaggcc	9	7	12	13	3	1	0	1	0	0	0	3	2	1	2	2	4	2	3	2	4	3	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:56143436G>A	ENST00000257868.5	+	3	1031	c.994G>A	c.(994-996)Gca>Aca	p.A332T		NM_005811.3	NP_005802.1	O95390	GDF11_HUMAN	growth differentiation factor 11	332					camera-type eye morphogenesis (GO:0048593)|cell maturation (GO:0048469)|growth (GO:0040007)|mesoderm development (GO:0007498)|metanephros development (GO:0001656)|negative regulation of cell differentiation (GO:0045596)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|palate development (GO:0060021)|pancreas development (GO:0031016)|skeletal system development (GO:0001501)|spinal cord anterior/posterior patterning (GO:0021512)|ureteric bud development (GO:0001657)	extracellular space (GO:0005615)|protein complex (GO:0043234)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(1)|ovary(2)|prostate(1)|urinary_tract(1)	12						CTGGATCATCGCACCTAAGCG	0.562																																						ENST00000257868.5																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(1)|ovary(2)|prostate(1)|urinary_tract(1)	12						c.(994-996)Gca>Aca		growth differentiation factor 11							139	128	131					12																	56143436		2203	4300	6503	SO:0001583	missense	0				growth|mesoderm development|skeletal system development	extracellular space	cytokine activity|growth factor activity	g.chr12:56143436G>A	AF100907	CCDS8891.1	12q13.13	2008-08-01							4216	protein-coding gene	gene with protein product		603936				15988002	Standard	NM_005811		Approved	BMP-11	uc001shq.3	O95390		ENST00000257868.5:c.994G>A	12.37:g.56143436G>A	ENSP00000257868:p.Ala332Thr						p.A332T	NM_005811.3	NP_005802.1	O95390	GDF11_HUMAN			3	1031	+			332					Q9UID1|Q9UID2	Missense_Mutation	SNP	ENST00000257868.5	37	c.994G>A	CCDS8891.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.177034	0.78564	.	.	ENSG00000135414	ENST00000257868	D	0.84730	-1.89	4.86	4.86	0.63082	Transforming growth factor beta, conserved site (1);Transforming growth factor-beta, C-terminal (3);	0.000000	0.85682	D	0.000000	D	0.95111	0.8416	H	0.97265	3.97	0.80722	D	1	D	0.89917	1.0	D	0.78314	0.991	D	0.96775	0.9571	10	0.87932	D	0	-8.0449	15.8644	0.79052	0.0:0.0:1.0:0.0	.	332	O95390	GDF11_HUMAN	T	332	ENSP00000257868:A332T	ENSP00000257868:A332T	A	+	1	0	GDF11	54429703	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.869000	0.99810	2.422000	0.82143	0.491000	0.48974	GCA		0.562	GDF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407842.3			54	81	0	0	0	1	0	54	81					A	56143436	G	A	56143436	3	1	435	1	0	0	0	0	1	0	0	0	6312	1087	38	1	1004	1	GDF11	12	56143436	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	101	56143436	77708459	5742	26667											
SILV	6490	broad.mit.edu	37	chr12	56349134	56349134	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcggaacctgcccaaggcCtgcttcttgacctgtgagaa	9	8	11	13	1	1	2	0	2	1	1	1	4	1	3	4	2	4	1	4	2	3	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:56349134C>A	ENST00000548747.1	-	10	2436	c.1774G>T	c.(1774-1776)Ggc>Tgc	p.G592C	PMEL_ENST00000552882.1_Missense_Mutation_p.G592C|PMEL_ENST00000360714.4_Missense_Mutation_p.G599C|PMEL_ENST00000550447.1_Missense_Mutation_p.G221C|PMEL_ENST00000550464.1_Missense_Mutation_p.G506C|PMEL_ENST00000536427.1_Missense_Mutation_p.G557C|PMEL_ENST00000449260.2_Missense_Mutation_p.G599C|PMEL_ENST00000548493.1_Missense_Mutation_p.G592C|PMEL_ENST00000548689.1_5'Flank|PMEL_ENST00000539511.1_Missense_Mutation_p.G506C			P40967	PMEL_HUMAN	premelanosome protein	592				G -> GG (in Ref. 2; AA sequence). {ECO:0000305}.	melanin biosynthetic process (GO:0042438)|melanosome organization (GO:0032438)	endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|melanosome (GO:0042470)|multivesicular body membrane (GO:0032585)|plasma membrane (GO:0005886)				NS(1)|breast(2)|endometrium(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						TGCCCAAGGCCTGCTTCTTGA	0.537																																						ENST00000548747.1																			0				NS(1)|breast(2)|endometrium(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(1774-1776)Ggc>Tgc		premelanosome protein							188	162	171					12																	56349134		2203	4300	6503	SO:0001583	missense	6490				melanin biosynthetic process|melanosome organization	endoplasmic reticulum membrane|extracellular region|Golgi apparatus|integral to membrane|melanosome|multivesicular body membrane|plasma membrane	protein binding	g.chr12:56349134C>A	AK092881	CCDS8897.1, CCDS55833.1, CCDS55834.1	12q13-q14	2010-12-17	2010-12-17	2010-12-17	ENSG00000185664	ENSG00000185664			10880	protein-coding gene	gene with protein product		155550	"silver (mouse homolog) like", "silver homolog (mouse)"	SIL, SILV		8739560	Standard	NM_001200053		Approved	D12S53E, SI, Pmel17, gp100	uc001siq.3	P40967		ENST00000548747.1:c.1774G>T	12.37:g.56349134C>A	ENSP00000448828:p.Gly592Cys					PMEL_ENST00000548493.1_Missense_Mutation_p.G592C|PMEL_ENST00000360714.4_Missense_Mutation_p.G599C|PMEL_ENST00000449260.2_Missense_Mutation_p.G599C|PMEL_ENST00000536427.1_Missense_Mutation_p.G557C|PMEL_ENST00000550464.1_Missense_Mutation_p.G506C|PMEL_ENST00000552882.1_Missense_Mutation_p.G592C|PMEL_ENST00000539511.1_Missense_Mutation_p.G506C|PMEL_ENST00000550447.1_Missense_Mutation_p.G221C	p.G592C			P40967	PMEL_HUMAN			10	2436	-			592	G -> GG (in Ref. 2; AA sequence).				B3KS57|B7Z6D7|Q12763|Q14448|Q14817|Q16565	Missense_Mutation	SNP	ENST00000548747.1	37	c.1774G>T	CCDS8897.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.95|17.95	3.512761|3.512761	0.64522|0.64522	.|.	.|.	ENSG00000185664|ENSG00000185664	ENST00000449260;ENST00000552882;ENST00000550464;ENST00000548747;ENST00000548493;ENST00000360714;ENST00000536427;ENST00000539511;ENST00000550447|ENST00000549404	T;T;T;T;T;T;T;T|.	0.12361|.	3.06;2.98;2.98;2.98;2.98;3.06;2.69;2.98|.	5.7|5.7	2.89|2.89	0.33648|0.33648	.|.	0.337134|.	0.25436|.	N|.	0.030684|.	T|T	0.46405|0.46405	0.1391|0.1391	L|L	0.51422|0.51422	1.61|1.61	0.30334|0.30334	N|N	0.786352|0.786352	D;D;D|.	0.89917|.	1.0;1.0;1.0|.	D;D;D|.	0.74023|.	0.982;0.974;0.937|.	T|T	0.44877|0.44877	-0.9299|-0.9299	10|5	0.56958|.	D|.	0.05|.	-23.9928|-23.9928	8.4671|8.4671	0.32962|0.32962	0.0:0.7543:0.0:0.2457|0.0:0.7543:0.0:0.2457	.|.	506;599;592|.	P40967-3;P40967-2;P40967|.	.;.;PMEL_HUMAN|.	C|M	599;592;506;592;592;599;557;506;221|444	ENSP00000402758:G599C;ENSP00000449690:G592C;ENSP00000450036:G506C;ENSP00000448828:G592C;ENSP00000447374:G592C;ENSP00000353940:G599C;ENSP00000438695:G557C;ENSP00000445005:G506C|.	ENSP00000353940:G599C|.	G|R	-|-	1|2	0|0	PMEL|PMEL	54635401|54635401	0.982000|0.982000	0.34865|0.34865	0.996000|0.996000	0.52242|0.52242	0.890000|0.890000	0.51754|0.51754	1.547000|1.547000	0.36190|0.36190	0.434000|0.434000	0.26340|0.26340	-0.140000|-0.140000	0.14226|0.14226	GGC|AGG		0.537	PMEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409626.1	NM_006928		18	69	1	0	1.67942e-08	1	1.77343e-08	18	69					A	56349134	C	A	56349134	3	1	435	1	0	0	0	0	1	0	0	0	14322	681	24	5	219	5	SILV	12	56349134	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	205698	56349134	77502761	5743	26668											
IKZF4	64375	broad.mit.edu	37	chr12	56420735	56420735	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcactcccctgggggcatcCggctgcccaatggcaagctc	6	7	11	17	1	1	0	1	0	0	0	4	0	3	0	4	4	2	4	4	4	2	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:56420735C>T	ENST00000262032.5	+	8	824	c.457C>T	c.(457-459)Cgg>Tgg	p.R153W	IKZF4_ENST00000547791.1_Missense_Mutation_p.R108W|IKZF4_ENST00000548601.1_3'UTR|IKZF4_ENST00000431367.2_Missense_Mutation_p.R51W|RP11-603J24.4_ENST00000551846.1_RNA|IKZF4_ENST00000547167.1_Missense_Mutation_p.R153W			Q9H2S9	IKZF4_HUMAN	IKAROS family zinc finger 4 (Eos)	153					negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(2)|lung(3)|ovary(1)|prostate(1)	8			UCEC - Uterine corpus endometrioid carcinoma (6;0.025)|OV - Ovarian serous cystadenocarcinoma(18;0.123)			TGGGGGCATCCGGCTGCCCAA	0.577																																						ENST00000262032.5																			0				NS(1)|endometrium(2)|lung(3)|ovary(1)|prostate(1)	8						c.(457-459)Cgg>Tgg		IKAROS family zinc finger 4 (Eos)							35	36	36					12																	56420735		2050	4180	6230	SO:0001583	missense	64375				negative regulation of transcription, DNA-dependent	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr12:56420735C>T	AF230809	CCDS44917.1	12q13	2013-01-08	2006-08-25	2006-08-25		ENSG00000123411		"Zinc fingers, C2H2-type", "IKAROS zinc fingers"	13179	protein-coding gene	gene with protein product		606239	"zinc finger protein, subfamily 1A, 4 (Eos)"	ZNFN1A4		10978333	Standard	NM_022465		Approved	Eos	uc001sjc.1	Q9H2S9		ENST00000262032.5:c.457C>T	12.37:g.56420735C>T	ENSP00000262032:p.Arg153Trp					IKZF4_ENST00000431367.2_Missense_Mutation_p.R51W|IKZF4_ENST00000547791.1_Missense_Mutation_p.R108W|IKZF4_ENST00000548601.1_3'UTR|IKZF4_ENST00000547167.1_Missense_Mutation_p.R153W	p.R153W			Q9H2S9	IKZF4_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (6;0.025)|OV - Ovarian serous cystadenocarcinoma(18;0.123)		8	824	+			153					Q96JP3	Missense_Mutation	SNP	ENST00000262032.5	37	c.457C>T	CCDS44917.1	.	.	.	.	.	.	.	.	.	.	C	33	5.266137	0.95399	.	.	ENSG00000123411	ENST00000262032;ENST00000431367;ENST00000547167;ENST00000547791	T;T;T;T	0.09630	2.97;2.99;2.97;2.96	5.22	5.22	0.72569	.	0.000000	0.44483	D	0.000446	T	0.39436	0.1078	M	0.84948	2.725	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.997;0.998;0.987;0.996	T	0.33828	-0.9853	10	0.87932	D	0	-16.5886	17.7172	0.88341	0.0:1.0:0.0:0.0	.	51;108;112;153	G5E9S4;F8VPL6;Q9H2S9-2;Q9H2S9	.;.;.;IKZF4_HUMAN	W	153;51;153;108	ENSP00000262032:R153W;ENSP00000412101:R51W;ENSP00000448419:R153W;ENSP00000450020:R108W	ENSP00000262032:R153W	R	+	1	2	IKZF4	54707002	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	3.765000	0.55272	2.714000	0.92807	0.561000	0.74099	CGG		0.577	IKZF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407590.1	NM_022465		7	10	0	0	0	1	0	7	10					T	56420735	C	T	56420735	3	4	435	1	0	0	0	0	1	0	0	0	7617	643	23	2	471	2	IKZF4	12	56420735	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	71601	56420735	77431160	5744	26669											
ERBB3	2065	broad.mit.edu	37	chr12	56493687	56493687	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgacaaacaagaagctagaGgaagtagagctggagccaga	17	4	13	7	0	0	5	0	1	0	4	0	7	0	7	1	2	4	3	1	2	6	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:56493687G>T	ENST00000267101.3	+	25	3443	c.3003G>T	c.(3001-3003)gaG>gaT	p.E1001D	ERBB3_ENST00000415288.2_Missense_Mutation_p.E942D|ERBB3_ENST00000553131.1_Missense_Mutation_p.E242D|ERBB3_ENST00000450146.2_Missense_Mutation_p.E358D|RP11-603J24.9_ENST00000548861.1_5'Flank|ERBB3_ENST00000549832.1_Missense_Mutation_p.E121D	NM_001982.3	NP_001973.2	P21860	ERBB3_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3	1001					cranial nerve development (GO:0021545)|endocardial cushion development (GO:0003197)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|negative regulation of cell adhesion (GO:0007162)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of secretion (GO:0051048)|negative regulation of signal transduction (GO:0009968)|neuron apoptotic process (GO:0051402)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein tyrosine kinase activity (GO:0061098)|regulation of cell proliferation (GO:0042127)|Schwann cell differentiation (GO:0014037)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein tyrosine kinase activator activity (GO:0030296)|transmembrane signaling receptor activity (GO:0004888)			central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	8			OV - Ovarian serous cystadenocarcinoma(18;0.112)			AGAAGCTAGAGGAAGTAGAGC	0.557																																						ENST00000267101.3																			0				central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	8						c.(3001-3003)gaG>gaT		v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3							99	104	102					12																	56493687		2203	4300	6503	SO:0001583	missense	2065				cranial nerve development|heart development|negative regulation of cell adhesion|negative regulation of neuron apoptosis|negative regulation of secretion|negative regulation of signal transduction|neuron apoptosis|phosphatidylinositol 3-kinase cascade|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of cell proliferation|Schwann cell differentiation|transmembrane receptor protein tyrosine kinase signaling pathway|wound healing	basolateral plasma membrane|extracellular space|integral to plasma membrane|receptor complex	ATP binding|growth factor binding|protein heterodimerization activity|protein homodimerization activity|protein tyrosine kinase activator activity|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity	g.chr12:56493687G>T	M34309	CCDS31833.1, CCDS44918.1	12q13	2013-07-09	2013-07-09			ENSG00000065361			3431	protein-coding gene	gene with protein product		190151	"lethal congenital contracture syndrome 2"	LCCS2			Standard	NM_001982		Approved	HER3	uc001sjh.3	P21860	OTTHUMG00000170140	ENST00000267101.3:c.3003G>T	12.37:g.56493687G>T	ENSP00000267101:p.Glu1001Asp					ERBB3_ENST00000549832.1_Missense_Mutation_p.E121D|ERBB3_ENST00000553131.1_Missense_Mutation_p.E242D|ERBB3_ENST00000450146.2_Missense_Mutation_p.E358D|ERBB3_ENST00000415288.2_Missense_Mutation_p.E942D	p.E1001D	NM_001982.3	NP_001973.2	P21860	ERBB3_HUMAN	OV - Ovarian serous cystadenocarcinoma(18;0.112)		25	3443	+			1001					A8K6L6|B4DIK7|B4DV32|E9PDT8|Q9BUD7	Missense_Mutation	SNP	ENST00000267101.3	37	c.3003G>T	CCDS31833.1	.	.	.	.	.	.	.	.	.	.	G	0.347	-0.947342	0.02304	.	.	ENSG00000065361	ENST00000267101;ENST00000450146;ENST00000415288;ENST00000550070;ENST00000553131;ENST00000549832	T;T;T;T;T	0.78126	-1.04;-0.92;-1.03;-1.15;-0.84	5.65	-1.52	0.08637	.	0.391329	0.25860	N	0.027829	T	0.45994	0.1370	N	0.08118	0	0.26419	N	0.976139	B;B;B	0.13145	0.004;0.007;0.001	B;B;B	0.12156	0.007;0.004;0.002	T	0.42396	-0.9454	10	0.02654	T	1	.	5.0561	0.14533	0.4731:0.0:0.3846:0.1424	.	942;121;1001	P21860-4;B3KWG5;P21860	.;.;ERBB3_HUMAN	D	1001;358;942;124;242;121	ENSP00000267101:E1001D;ENSP00000399178:E358D;ENSP00000408340:E942D;ENSP00000449129:E242D;ENSP00000448729:E121D	ENSP00000267101:E1001D	E	+	3	2	ERBB3	54779954	0.998000	0.40836	0.964000	0.40570	0.303000	0.27691	0.181000	0.16880	-0.490000	0.06707	-0.768000	0.03414	GAG		0.557	ERBB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407619.3			11	35	1	0	0.0809354	1	0.0813244	11	35					T	56493687	G	T	56493687	3	4	435	1	0	0	0	0	1	0	0	0	5208	991	35	5	3232	5	ERBB3	12	56493687	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	72952	56493687	77358208	5745	26670											
ZC3H10	84872	broad.mit.edu	37	chr12	56514903	56514903	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcagtcctcccaggacgacGtcatgatctctatgatatct	9	12	7	13	2	4	2	2	2	2	0	7	4	6	3	2	1	0	0	2	1	2	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:56514903G>A	ENST00000257940.2	+	3	833	c.557G>A	c.(556-558)cGt>cAt	p.R186H	RP11-603J24.5_ENST00000550947.1_RNA|RP11-603J24.5_ENST00000549438.1_RNA|RP11-603J24.6_ENST00000550840.1_RNA	NM_032786.1	NP_116175.1	Q96K80	ZC3HA_HUMAN	zinc finger CCCH-type containing 10	186							metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(4)|large_intestine(1)|lung(2)|prostate(2)|skin(1)	11			OV - Ovarian serous cystadenocarcinoma(18;0.12)			CCAGGACGACGTCATGATCTC	0.582																																						ENST00000257940.2																			0				breast(1)|endometrium(4)|large_intestine(1)|lung(2)|prostate(2)|skin(1)	11						c.(556-558)cGt>cAt		zinc finger CCCH-type containing 10							61	62	62					12																	56514903		2203	4300	6503	SO:0001583	missense	84872						nucleic acid binding|zinc ion binding	g.chr12:56514903G>A	BC018708	CCDS8903.1	12q13.2	2012-07-05	2005-06-02	2005-06-02		ENSG00000135482		"Zinc fingers, CCCH-type domain containing"	25893	protein-coding gene	gene with protein product			"zinc finger CCCH-type domain containing 10"	ZC3HDC10		12477932	Standard	NM_032786		Approved	FLJ14451	uc001sjp.1	Q96K80		ENST00000257940.2:c.557G>A	12.37:g.56514903G>A	ENSP00000257940:p.Arg186His					RP11-603J24.5_ENST00000550947.1_RNA|RP11-603J24.5_ENST00000549438.1_RNA	p.R186H	NM_032786.1	NP_116175.1	Q96K80	ZC3HA_HUMAN	OV - Ovarian serous cystadenocarcinoma(18;0.12)		3	833	+			186						Missense_Mutation	SNP	ENST00000257940.2	37	c.557G>A	CCDS8903.1	.	.	.	.	.	.	.	.	.	.	G	15.76	2.929093	0.52759	.	.	ENSG00000135482	ENST00000257940	.	.	.	4.62	4.62	0.57501	.	0.147317	0.39759	N	0.001268	T	0.29749	0.0743	N	0.08118	0	0.80722	D	1	D	0.62365	0.991	B	0.43155	0.41	T	0.26883	-1.0090	9	0.72032	D	0.01	-11.6	12.6282	0.56642	0.0:0.1672:0.8328:0.0	.	186	Q96K80	ZC3HA_HUMAN	H	186	.	ENSP00000257940:R186H	R	+	2	0	ZC3H10	54801170	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.765000	0.55272	2.573000	0.86826	0.591000	0.81541	CGT		0.582	ZC3H10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407826.1	NM_032786		17	33	0	0	0	1	0	17	33					A	56514903	G	A	56514903	3	1	435	1	0	0	0	0	1	0	0	0	17556	1145	40	1	559	1	ZC3H10	12	56514903	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	21216	56514903	77336992	5746	26671											
OBFC2B	79035	broad.mit.edu	37	chr12	56619180	56619180	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gagtgaccaagacaaaggacGggcatgaggttcggacctgc	12	5	15	9	2	0	3	0	2	0	1	1	6	0	5	2	4	1	2	2	4	2	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:56619180G>A	ENST00000380198.2	+	2	601	c.103G>A	c.(103-105)Ggg>Agg	p.G35R	NABP2_ENST00000341463.5_Missense_Mutation_p.G35R|NABP2_ENST00000267023.4_Missense_Mutation_p.G35R			Q9BQ15	SOSB1_HUMAN	nucleic acid binding protein 2	35					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|mitotic cell cycle checkpoint (GO:0007093)|response to ionizing radiation (GO:0010212)	nucleus (GO:0005634)|SOSS complex (GO:0070876)	single-stranded DNA binding (GO:0003697)										GACAAAGGACGGGCATGAGGT	0.502																																						ENST00000380198.2																			0											c.(103-105)Ggg>Agg		nucleic acid binding protein 2							158	136	144					12																	56619180		2203	4300	6503	SO:0001583	missense	79035							g.chr12:56619180G>A	BC006171	CCDS8911.1	12q13.3	2012-06-19	2012-06-19	2012-06-19	ENSG00000139579	ENSG00000139579			28412	protein-coding gene	gene with protein product	"single strand DNA-binding protein 1", "sensor of single-strand DNA complex subunit B1"	612104	"oligonucleotide/oligosaccharide-binding fold containing 2B"	OBFC2B			Standard	NM_024068		Approved	MGC2731, SSB1, hSSB1, SOSS-B1	uc001ski.3	Q9BQ15	OTTHUMG00000152527	ENST00000380198.2:c.103G>A	12.37:g.56619180G>A	ENSP00000369545:p.Gly35Arg					NABP2_ENST00000341463.5_Missense_Mutation_p.G35R|NABP2_ENST00000267023.4_Missense_Mutation_p.G35R	p.G35R							2	601	+								A6NDF8|Q6XYC8	Missense_Mutation	SNP	ENST00000380198.2	37	c.103G>A	CCDS8911.1	.	.	.	.	.	.	.	.	.	.	G	32	5.117669	0.94385	.	.	ENSG00000139579	ENST00000447747;ENST00000399713;ENST00000267023;ENST00000380198;ENST00000341463	T;T;T;T;T	0.36878	1.23;1.23;1.23;1.23;1.23	4.59	4.59	0.56863	Nucleic acid-binding, OB-fold-like (1);Nucleic acid-binding, OB-fold (1);Nucleic acid binding, OB-fold, tRNA/helicase-type (1);	0.000000	0.64402	D	0.000002	T	0.66597	0.2805	M	0.88031	2.925	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.83275	0.996;0.995;0.995	T	0.75141	-0.3422	10	0.87932	D	0	-1.9473	16.6164	0.84917	0.0:0.0:1.0:0.0	.	35;35;35	C9JT95;C9JMP5;Q9BQ15	.;.;SOSB1_HUMAN	R	35	ENSP00000413902:G35R;ENSP00000408616:G35R;ENSP00000267023:G35R;ENSP00000369545:G35R;ENSP00000368862:G35R	ENSP00000267023:G35R	G	+	1	0	OBFC2B	54905447	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.466000	0.97665	2.283000	0.76528	0.456000	0.33151	GGG		0.502	NABP2-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326610.1	NM_024068		30	43	0	0	0	1	0	30	43					A	56619180	G	A	56619180	3	1	435	1	0	0	0	0	1	0	0	0	10809	1116	39	2	109	2	OBFC2B	12	56619180	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	104277	56619180	77232715	5747	26672											
SLC39A5	283375	broad.mit.edu	37	chr12	56630996	56630996	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctgctgctgctgagcctcGtgtctggagccctgggattg	3	11	16	11	1	1	1	0	1	1	0	2	3	1	3	2	3	5	4	2	3	0	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:56630996G>A	ENST00000266980.4	+	10	1644	c.1351G>A	c.(1351-1353)Gtg>Atg	p.V451M	SLC39A5_ENST00000454355.2_Missense_Mutation_p.V451M|ANKRD52_ENST00000548241.1_5'Flank|SLC39A5_ENST00000419232.1_3'UTR	NM_001135195.1	NP_001128667.1	Q6ZMH5	S39A5_HUMAN	solute carrier family 39 (zinc transporter), member 5	451					cellular response to zinc ion starvation (GO:0034224)|G1 to G0 transition involved in cell differentiation (GO:0070315)|neural precursor cell proliferation (GO:0061351)|transmembrane transport (GO:0055085)|zinc ion transport (GO:0006829)	basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	metal ion transmembrane transporter activity (GO:0046873)			NS(1)|cervix(6)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						GCTGAGCCTCGTGTCTGGAGC	0.642																																						ENST00000266980.4																			0				NS(1)|cervix(6)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(1351-1353)Gtg>Atg		solute carrier family 39 (zinc transporter), member 5							45	49	48					12																	56630996		2203	4300	6503	SO:0001583	missense	283375				zinc ion transport	basolateral plasma membrane|integral to membrane	metal ion transmembrane transporter activity	g.chr12:56630996G>A		CCDS8912.2	12q13.3	2013-07-17	2013-07-17		ENSG00000139540	ENSG00000139540		"Solute carriers"	20502	protein-coding gene	gene with protein product		608730	"solute carrier family 39 (metal ion transporter), member 5"				Standard	NM_173596		Approved		uc010sqj.2	Q6ZMH5	OTTHUMG00000156962	ENST00000266980.4:c.1351G>A	12.37:g.56630996G>A	ENSP00000266980:p.Val451Met					SLC39A5_ENST00000419232.1_3'UTR|SLC39A5_ENST00000454355.2_Missense_Mutation_p.V451M	p.V451M	NM_001135195.1	NP_001128667.1	Q6ZMH5	S39A5_HUMAN			10	1644	+			451					B2R808|Q8N6Y3	Missense_Mutation	SNP	ENST00000266980.4	37	c.1351G>A	CCDS8912.2	.	.	.	.	.	.	.	.	.	.	G	16.63	3.175780	0.57692	.	.	ENSG00000139540	ENST00000454355;ENST00000266980	T;T	0.53423	0.62;0.62	4.79	4.79	0.61399	.	0.000000	0.51477	D	0.000093	T	0.62392	0.2424	L	0.55834	1.745	0.53688	D	0.999979	D	0.89917	1.0	D	0.72982	0.979	T	0.64063	-0.6495	10	0.72032	D	0.01	-8.4486	13.4725	0.61288	0.0:0.1584:0.8416:0.0	.	451	Q6ZMH5	S39A5_HUMAN	M	451	ENSP00000405360:V451M;ENSP00000266980:V451M	ENSP00000266980:V451M	V	+	1	0	SLC39A5	54917263	1.000000	0.71417	0.974000	0.42286	0.545000	0.35147	1.550000	0.36223	2.669000	0.90835	0.561000	0.74099	GTG		0.642	SLC39A5-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346834.1	NM_173596		27	38	0	0	0	1	0	27	38					A	56630996	G	A	56630996	3	1	435	1	0	0	0	0	1	0	0	0	14621	1145	40	1	1385	1	SLC39A5	12	56630996	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	11816	56630996	77220899	5748	26673											
ANKRD52	283373	broad.mit.edu	37	chr12	56641862	56641862	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccttgatgagggcagaggcGccgtgggctgtaagcacctc	7	8	15	11	2	0	3	0	2	0	1	2	3	1	3	3	3	1	4	3	3	1	2	rs377427428		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:56641862G>A	ENST00000267116.7	-	18	2044	c.1923C>T	c.(1921-1923)ggC>ggT	p.G641G		NM_173595.3	NP_775866.2	Q8NB46	ANR52_HUMAN	ankyrin repeat domain 52	641										endometrium(9)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)|skin(1)	29						GGGCAGAGGCGCCGTGGGCTG	0.627																																						ENST00000267116.7																			0				endometrium(9)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)|skin(1)	29						c.(1921-1923)ggC>ggT		ankyrin repeat domain 52		G		1,4159		0,1,2079	35	40	38		1923	-2.3	1	12		38	0,8394		0,0,4197	no	coding-synonymous	ANKRD52	NM_173595.3		0,1,6276	AA,AG,GG		0.0,0.024,0.0080		641/1077	56641862	1,12553	2080	4197	6277	SO:0001819	synonymous_variant	283373						protein binding	g.chr12:56641862G>A	AK091555	CCDS44920.1	12q13.3	2013-01-10			ENSG00000139645	ENSG00000139645		"Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits", "Ankyrin repeat domain containing"	26614	protein-coding gene	gene with protein product	"protein phosphatase 6 ankyrin repeat subunit C"						Standard	NM_173595		Approved	FLJ34236, PP6-ARS-C	uc001skm.4	Q8NB46	OTTHUMG00000170329	ENST00000267116.7:c.1923C>T	12.37:g.56641862G>A							p.G641G	NM_173595.3	NP_775866.2	Q8NB46	ANR52_HUMAN			18	2044	-			641					A6NE79|B1Q2K2	Silent	SNP	ENST00000267116.7	37	c.1923C>T	CCDS44920.1																																																																																				0.627	ANKRD52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408539.1	NM_173595		13	21	0	0	0	1	0	13	21					A	56641862	G	A	56641862	2	1	435	1	0	0	0	0	0	0	0	1	678	1074	38	1		1	ANKRD52	12	56641862	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	10866	56641862	77210033	5749	26674											
ANKRD52	283373	broad.mit.edu	37	chr12	56641924	56641924	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctccgtggccaggaagagtgCggtccggcccttgtggtccc	4	8	15	14	3	0	1	0	0	0	1	3	2	3	2	5	5	1	0	5	5	1	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:56641924C>T	ENST00000267116.7	-	18	1982	c.1861G>A	c.(1861-1863)Gca>Aca	p.A621T		NM_173595.3	NP_775866.2	Q8NB46	ANR52_HUMAN	ankyrin repeat domain 52	621										endometrium(9)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)|skin(1)	29						AGGAAGAGTGCGGTCCGGCCC	0.632																																						ENST00000267116.7																			0				endometrium(9)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)|skin(1)	29						c.(1861-1863)Gca>Aca		ankyrin repeat domain 52							69	73	72					12																	56641924		2110	4218	6328	SO:0001583	missense	283373						protein binding	g.chr12:56641924C>T	AK091555	CCDS44920.1	12q13.3	2013-01-10			ENSG00000139645	ENSG00000139645		"Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits", "Ankyrin repeat domain containing"	26614	protein-coding gene	gene with protein product	"protein phosphatase 6 ankyrin repeat subunit C"						Standard	NM_173595		Approved	FLJ34236, PP6-ARS-C	uc001skm.4	Q8NB46	OTTHUMG00000170329	ENST00000267116.7:c.1861G>A	12.37:g.56641924C>T	ENSP00000267116:p.Ala621Thr						p.A621T	NM_173595.3	NP_775866.2	Q8NB46	ANR52_HUMAN			18	1982	-			621					A6NE79|B1Q2K2	Missense_Mutation	SNP	ENST00000267116.7	37	c.1861G>A	CCDS44920.1	.	.	.	.	.	.	.	.	.	.	C	24.8	4.574009	0.86542	.	.	ENSG00000139645	ENST00000267116;ENST00000417002	T	0.60171	0.21	4.38	3.48	0.39840	Ankyrin repeat-containing domain (4);	0.119694	0.56097	D	0.000029	T	0.67411	0.2890	M	0.74647	2.275	0.43874	D	0.996481	P	0.51653	0.947	P	0.52481	0.7	T	0.73338	-0.4014	10	0.72032	D	0.01	.	13.6474	0.62290	0.0:0.8433:0.1567:0.0	.	621	Q8NB46	ANR52_HUMAN	T	621	ENSP00000267116:A621T	ENSP00000267116:A621T	A	-	1	0	ANKRD52	54928191	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	4.737000	0.62066	1.200000	0.43188	0.313000	0.20887	GCA		0.632	ANKRD52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408539.1	NM_173595		20	34	0	0	0	1	0	20	34					T	56641924	C	T	56641924	3	4	435	1	0	0	0	0	1	0	0	0	678	768	27	1	1413	1	ANKRD52	12	56641924	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	62	56641924	77209971	5750	26675											
ANKRD52	283373	broad.mit.edu	37	chr12	56648679	56648679	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgcccaatgcagaggctgccGctcctttttgtcacagacat	8	11	9	13	1	1	2	1	0	0	2	2	2	2	2	3	1	3	3	3	1	1	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:56648679G>A	ENST00000267116.7	-	6	641	c.520C>T	c.(520-522)Cgg>Tgg	p.R174W		NM_173595.3	NP_775866.2	Q8NB46	ANR52_HUMAN	ankyrin repeat domain 52	174										endometrium(9)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)|skin(1)	29						AGAGGCTGCCGCTCCTTTTTG	0.493																																						ENST00000267116.7																			0				endometrium(9)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)|skin(1)	29						c.(520-522)Cgg>Tgg		ankyrin repeat domain 52							75	75	75					12																	56648679		1893	4117	6010	SO:0001583	missense	283373						protein binding	g.chr12:56648679G>A	AK091555	CCDS44920.1	12q13.3	2013-01-10			ENSG00000139645	ENSG00000139645		"Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits", "Ankyrin repeat domain containing"	26614	protein-coding gene	gene with protein product	"protein phosphatase 6 ankyrin repeat subunit C"						Standard	NM_173595		Approved	FLJ34236, PP6-ARS-C	uc001skm.4	Q8NB46	OTTHUMG00000170329	ENST00000267116.7:c.520C>T	12.37:g.56648679G>A	ENSP00000267116:p.Arg174Trp						p.R174W	NM_173595.3	NP_775866.2	Q8NB46	ANR52_HUMAN			6	641	-			174					A6NE79|B1Q2K2	Missense_Mutation	SNP	ENST00000267116.7	37	c.520C>T	CCDS44920.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.166241	0.78339	.	.	ENSG00000139645	ENST00000267116;ENST00000417002	T	0.66638	-0.22	4.75	4.75	0.60458	Ankyrin repeat-containing domain (4);	0.000000	0.85682	D	0.000000	T	0.73783	0.3631	L	0.42581	1.335	0.58432	D	0.999997	D	0.89917	1.0	D	0.87578	0.998	T	0.70753	-0.4786	10	0.34782	T	0.22	.	12.708	0.57073	0.0:0.0:0.8346:0.1653	.	174	Q8NB46	ANR52_HUMAN	W	174	ENSP00000267116:R174W	ENSP00000267116:R174W	R	-	1	2	ANKRD52	54934946	0.393000	0.25237	1.000000	0.80357	0.998000	0.95712	0.591000	0.23969	2.632000	0.89209	0.655000	0.94253	CGG		0.493	ANKRD52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408539.1	NM_173595		32	38	0	0	0	1	0	32	38					A	56648679	G	A	56648679	3	1	435	1	0	0	0	0	1	0	0	0	678	1086	38	1	2802	1	ANKRD52	12	56648679	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	6755	56648679	77203216	5751	26676											
CS	1431	broad.mit.edu	37	chr12	56667535	56667535	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctcgctgacaggtatatcGcggatcagtcttccttagta	8	13	9	11	3	3	1	1	1	2	0	6	2	4	2	1	2	0	3	1	2	4	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:56667535G>A	ENST00000351328.3	-	10	1256	c.1066C>T	c.(1066-1068)Cga>Tga	p.R356*	CS_ENST00000542324.2_Nonsense_Mutation_p.R343*|CS_ENST00000548567.1_Nonsense_Mutation_p.R290*	NM_004077.2	NP_004068.2	O75390	CISY_HUMAN	citrate synthase	356					carbohydrate metabolic process (GO:0005975)|cellular carbohydrate metabolic process (GO:0044262)|cellular metabolic process (GO:0044237)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	citrate (Si)-synthase activity (GO:0004108)|poly(A) RNA binding (GO:0044822)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	17		Myeloproliferative disorder(1001;0.000374)		BRCA - Breast invasive adenocarcinoma(357;6.17e-07)		CAGGTATATCGCGGATCAGTC	0.423																																						ENST00000548567.1																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	17						c.(868-870)Cga>Tga		citrate synthase							117	107	111					12																	56667535		2203	4300	6503	SO:0001587	stop_gained	1431				cellular carbohydrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix	citrate (Si)-synthase activity	g.chr12:56667535G>A		CCDS8913.1	12q13.2	2012-10-02				ENSG00000062485	2.3.3.1		2422	protein-coding gene	gene with protein product		118950					Standard	NM_004077		Approved		uc001sks.1	O75390	OTTHUMG00000170344	ENST00000351328.3:c.1066C>T	12.37:g.56667535G>A	ENSP00000342056:p.Arg356*					CS_ENST00000542324.2_Nonsense_Mutation_p.R343*|CS_ENST00000351328.3_Nonsense_Mutation_p.R356*	p.R290*			O75390	CISY_HUMAN		BRCA - Breast invasive adenocarcinoma(357;6.17e-07)	11	1338	-		Myeloproliferative disorder(1001;0.000374)	356					Q71UT9|Q7KZH0|Q96FZ8|Q9BWN8	Nonsense_Mutation	SNP	ENST00000351328.3	37	c.868C>T	CCDS8913.1	.	.	.	.	.	.	.	.	.	.	G	39	7.570157	0.98365	.	.	ENSG00000062485	ENST00000548567;ENST00000351328;ENST00000548746;ENST00000542324	.	.	.	5.69	4.79	0.61399	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-6.533	15.1855	0.72999	0.0:0.0:0.8578:0.1422	.	.	.	.	X	290;356;29;343	.	ENSP00000342056:R356X	R	-	1	2	CS	54953802	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	7.166000	0.77553	1.518000	0.48934	0.655000	0.94253	CGA		0.423	CS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408588.2	NM_004077		20	63	0	0	0	1	0	20	63					A	56667535	G	A	56667535	4	1	435	1	0	0	0	0	0	1	0	0	3924	1095	38	1	342	1	CS	12	56667535	Nonsense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	18856	56667535	77184360	5752	26677											
PAN2	9924	broad.mit.edu	37	chr12	56716848	56716848	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcccggtttttcaacaacctGcatctcatccccatcagtcc	8	12	4	17	1	3	0	3	0	1	0	7	0	6	0	5	1	3	2	5	1	2	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:56716848G>A	ENST00000425394.2	-	17	2879	c.2503C>T	c.(2503-2505)Cag>Tag	p.Q835*	PAN2_ENST00000440411.3_Nonsense_Mutation_p.Q831*|PAN2_ENST00000257931.5_Nonsense_Mutation_p.Q834*|PAN2_ENST00000548043.1_Nonsense_Mutation_p.Q835*	NM_001127460.2	NP_001120932	Q9HBH5	RDH14_HUMAN	PAN2 poly(A) specific ribonuclease subunit	160					osteoblast differentiation (GO:0001649)	endoplasmic reticulum (GO:0005783)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	oxidoreductase activity (GO:0016491)			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	41					Vitamin A(DB00162)	TCAACAACCTGCATCTCATCC	0.483																																						ENST00000425394.2																			0				NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						c.(2503-2505)Cag>Tag		PAN2 poly(A) specific ribonuclease subunit homolog (S. cerevisiae)							131	132	131					12																	56716848		2203	4300	6503	SO:0001587	stop_gained	9924				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|ubiquitin-dependent protein catabolic process	cytosol|nucleus	nucleic acid binding|poly(A)-specific ribonuclease activity|ubiquitin thiolesterase activity	g.chr12:56716848G>A	AB014610	CCDS8915.1, CCDS44922.1, CCDS53802.1	12q13.2	2014-03-27	2014-03-27	2008-01-08		ENSG00000135473		"Ubiquitin-specific peptidases"	20074	protein-coding gene	gene with protein product	"PAN2 homolog, PABP1 dependent poly A specific ribonuclease subunit (S. cerevisiae)"		"ubiquitin specific protease 52", "ubiquitin specific peptidase 52", "PAN2 poly(A) specific ribonuclease subunit homolog (S. cerevisiae)"	USP52		12838346, 14583602	Standard	NM_014871		Approved	KIAA0710, hPAN2	uc001skx.3	Q504Q3	OTTHUMG00000170412	ENST00000425394.2:c.2503C>T	12.37:g.56716848G>A	ENSP00000401721:p.Gln835*					PAN2_ENST00000548043.1_Nonsense_Mutation_p.Q835*|PAN2_ENST00000257931.5_Nonsense_Mutation_p.Q834*|PAN2_ENST00000440411.3_Nonsense_Mutation_p.Q831*	p.Q835*	NM_001127460.2	NP_001120932.1	Q504Q3	PAN2_HUMAN			17	2879	-			835						Nonsense_Mutation	SNP	ENST00000425394.2	37	c.2503C>T	CCDS44922.1	.	.	.	.	.	.	.	.	.	.	G	38	7.210556	0.98136	.	.	ENSG00000135473	ENST00000425394;ENST00000440411;ENST00000257931;ENST00000548043	.	.	.	4.74	4.74	0.60224	.	0.703897	0.13300	N	0.398327	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05525	T	0.97	-7.7486	13.4347	0.61077	0.0:0.0:1.0:0.0	.	.	.	.	X	835;831;834;835	.	ENSP00000257931:Q834X	Q	-	1	0	PAN2	55003115	0.962000	0.33011	1.000000	0.80357	0.542000	0.35054	1.395000	0.34520	2.650000	0.89964	0.555000	0.69702	CAG		0.483	PAN2-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000409024.1	NM_014871		14	41	0	0	0	1	0	14	41					A	56716848	G	A	56716848	4	1	435	1	0	0	0	0	0	1	0	0	11414	1328	46	3	1145	3	PAN2	12	56716848	Nonsense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	49313	56716848	77135047	5753	26678											
STAT2	6773	broad.mit.edu	37	chr12	56745142	56745142	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggtccacccctttggtcagaGggtcatcctgatagctaacc	8	10	10	13	0	2	2	2	1	0	1	4	2	4	2	5	3	2	1	5	3	2	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:56745142G>A	ENST00000314128.4	-	9	898	c.875C>T	c.(874-876)cCt>cTt	p.P292L	STAT2_ENST00000556539.1_5'Flank|RNU7-40P_ENST00000516397.1_RNA|STAT2_ENST00000418572.2_Missense_Mutation_p.P288L|STAT2_ENST00000557235.1_Missense_Mutation_p.P288L			P52630	STAT2_HUMAN	signal transducer and activator of transcription 2, 113kDa	292					cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|JAK-STAT cascade (GO:0007259)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|transcription, DNA-templated (GO:0006351)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			NS(1)|endometrium(2)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|skin(3)	31						TTTGGTCAGAGGGTCATCCTG	0.572																																						ENST00000314128.4																			0				NS(1)|endometrium(2)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|skin(3)	31						c.(874-876)cCt>cTt		signal transducer and activator of transcription 2, 113kDa							234	207	216					12																	56745142		2203	4300	6503	SO:0001583	missense	6773				interspecies interaction between organisms|JAK-STAT cascade|regulation of transcription from RNA polymerase II promoter|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	cytosol|nucleoplasm|plasma membrane	calcium ion binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr12:56745142G>A	BC051284	CCDS8917.1, CCDS55836.1	12q13.2	2013-02-14	2002-08-29			ENSG00000170581		"SH2 domain containing"	11363	protein-coding gene	gene with protein product		600556	"signal transducer and activator of transcription 2, 113kD"			7885841	Standard	NM_005419		Approved	STAT113	uc001slc.3	P52630		ENST00000314128.4:c.875C>T	12.37:g.56745142G>A	ENSP00000315768:p.Pro292Leu					STAT2_ENST00000418572.2_Missense_Mutation_p.P288L|STAT2_ENST00000557235.1_Missense_Mutation_p.P288L	p.P292L			P52630	STAT2_HUMAN			9	898	-			292					B4DLC7|G3V2M6|Q16430|Q16431|Q9UDL4	Missense_Mutation	SNP	ENST00000314128.4	37	c.875C>T	CCDS8917.1	.	.	.	.	.	.	.	.	.	.	G	12.99	2.101928	0.37048	.	.	ENSG00000170581	ENST00000314128;ENST00000557235;ENST00000418572	T;T;T	0.61040	0.14;0.14;0.14	4.32	2.39	0.29439	STAT transcription factor, all-alpha (2);STAT transcription factor, coiled coil (1);	0.257560	0.38381	N	0.001704	T	0.49029	0.1533	L	0.54323	1.7	0.52501	D	0.999957	B;B;B	0.20052	0.041;0.025;0.004	B;B;B	0.28553	0.091;0.069;0.007	T	0.47129	-0.9141	10	0.72032	D	0.01	0.4973	4.6757	0.12710	0.1074:0.0:0.5089:0.3837	.	288;288;292	B4DLC8;G3V2M6;P52630	.;.;STAT2_HUMAN	L	292;288;288	ENSP00000315768:P292L;ENSP00000450751:P288L;ENSP00000387354:P288L	ENSP00000315768:P292L	P	-	2	0	STAT2	55031409	0.981000	0.34729	0.004000	0.12327	0.094000	0.18550	1.795000	0.38784	0.523000	0.28482	0.460000	0.39030	CCT		0.572	STAT2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410277.1	NM_005419		64	89	0	0	0	1	0	64	89					A	56745142	G	A	56745142	3	1	435	1	0	0	0	0	1	0	0	0	15264	1000	35	3	1744	3	STAT2	12	56745142	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	28294	56745142	77106753	5754	26679											
BAZ2A	11176	broad.mit.edu	37	chr12	57003985	57003985	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cggcggacactgtgtaccacGttgcggctcaggtactaaga	9	8	13	11	4	1	1	1	0	0	1	1	2	1	2	1	4	3	4	1	4	3	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:57003985G>A	ENST00000551812.1	-	9	1993	c.1800C>T	c.(1798-1800)aaC>aaT	p.N600N	BAZ2A_ENST00000549884.1_Silent_p.N598N|BAZ2A_ENST00000179765.5_Silent_p.N568N|BAZ2A_ENST00000379441.3_Silent_p.N570N	NM_013449.3	NP_038477.2	Q9UIF9	BAZ2A_HUMAN	bromodomain adjacent to zinc finger domain, 2A	600	MBD. {ECO:0000255|PROSITE- ProRule:PRU00338}.				chromatin remodeling (GO:0006338)|chromatin silencing at rDNA (GO:0000183)|DNA methylation (GO:0006306)|heterochromatin assembly involved in chromatin silencing (GO:0070869)|histone deacetylation (GO:0016575)|histone H3-K9 methylation (GO:0051567)|histone H4 deacetylation (GO:0070933)|histone H4-K20 methylation (GO:0034770)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromatin silencing complex (GO:0005677)|nucleolus (GO:0005730)|rDNA heterochromatin (GO:0033553)	DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|lysine-acetylated histone binding (GO:0070577)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(15)|urinary_tract(1)	31						TGTGTACCACGTTGCGGCTCA	0.493																																						ENST00000179765.5																			0				breast(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(15)|urinary_tract(1)	31						c.(1702-1704)aaC>aaT		bromodomain adjacent to zinc finger domain, 2A							108	110	109					12																	57003985		1979	4152	6131	SO:0001819	synonymous_variant	11176				chromatin silencing at rDNA|DNA methylation|transcription, DNA-dependent	chromatin silencing complex|nucleolus|rDNA heterochromatin	DNA binding|histone acetyl-lysine binding|ligand-dependent nuclear receptor binding|RNA binding|zinc ion binding	g.chr12:57003985G>A	AB032254	CCDS44924.1, CCDS73483.1	12q13.3	2013-01-28				ENSG00000076108		"Zinc fingers, PHD-type"	962	protein-coding gene	gene with protein product	"TTF-I interacting peptide 5"	605682				10662543, 11532953	Standard	XM_005268596		Approved	KIAA0314, TIP5, WALp3	uc001slq.1	Q9UIF9	OTTHUMG00000170332	ENST00000551812.1:c.1800C>T	12.37:g.57003985G>A						BAZ2A_ENST00000379441.3_Silent_p.N570N|BAZ2A_ENST00000551812.1_Silent_p.N600N|BAZ2A_ENST00000549884.1_Silent_p.N598N	p.N568N			Q9UIF9	BAZ2A_HUMAN			10	1903	-			600			MBD.		B3KN66|O00536|O15030|Q68DI8|Q96H26	Silent	SNP	ENST00000551812.1	37	c.1704C>T	CCDS44924.1	.	.	.	.	.	.	.	.	.	.	G	0.835	-0.743889	0.03088	.	.	ENSG00000076108	ENST00000547650	.	.	.	4.75	-5.81	0.02340	.	.	.	.	.	T	0.64494	0.2603	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.65578	-0.6134	4	.	.	.	.	16.0041	0.80344	0.6372:0.0:0.3628:0.0	.	.	.	.	M	29	.	.	T	-	2	0	BAZ2A	55290252	0.742000	0.28228	0.515000	0.27774	0.021000	0.10359	0.011000	0.13264	-1.585000	0.01634	-1.134000	0.01955	ACG		0.493	BAZ2A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000408561.1	NM_013449		25	40	0	0	0	1	0	25	40					A	57003985	G	A	57003985	2	1	435	1	0	0	0	0	0	0	0	1	1331	1136	40	1		1	BAZ2A	12	57003985	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	258843	57003985	76847910	5755	26680											
NACA	4666	broad.mit.edu	37	chr12	57110170	57110170	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgagggatctgggcatataGgaggtgaagtagcagaactc	12	8	15	6	0	1	3	0	2	1	1	2	5	1	5	0	4	2	3	0	4	5	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:57110170G>T	ENST00000454682.1	-	3	5425	c.5144C>A	c.(5143-5145)cCt>cAt	p.P1715H	NACA_ENST00000548563.1_Intron|NACA_ENST00000546392.1_Intron|NACA_ENST00000393891.4_Intron|NACA_ENST00000550952.1_Intron|NACA_ENST00000551793.1_Intron|NACA_ENST00000356769.3_Intron|NACA_ENST00000552540.1_Intron	NM_001113203.2	NP_001106674.2	E9PAV3	NACAM_HUMAN	nascent polypeptide-associated complex alpha subunit	1715	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						TGGGCATATAGGAGGTGAAGT	0.498			T	BCL6	NHL																																	ENST00000454682.1				Dom	yes		12	12q23-q24.1	4666	T	nascent-polypeptide-associated complex alpha polypeptide			L	BCL6		NHL		0				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						c.(5143-5145)cCt>cAt		nascent polypeptide-associated complex alpha subunit							341	307	318					12																	57110170		1568	3582	5150	SO:0001583	missense	4666				interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation	nascent polypeptide-associated complex|nucleus	DNA binding	g.chr12:57110170G>T	X80909	CCDS31837.1, CCDS44925.1, CCDS44925.2	12q23-q24.1	2008-09-05	2007-04-20		ENSG00000196531	ENSG00000196531			7629	protein-coding gene	gene with protein product		601234	"nascent-polypeptide-associated complex alpha polypeptide"			8047162	Standard	NM_001113202		Approved	NACA1	uc001sma.2	E9PAV3		ENST00000454682.1:c.5144C>A	12.37:g.57110170G>T	ENSP00000403817:p.Pro1715His					NACA_ENST00000550952.1_Intron|NACA_ENST00000546392.1_Intron|NACA_ENST00000356769.3_Intron|NACA_ENST00000548563.1_Intron|NACA_ENST00000393891.4_Intron|NACA_ENST00000551793.1_Intron|NACA_ENST00000552540.1_Intron	p.P1715H	NM_001113203.2	NP_001106674.2	Q13765	NACA_HUMAN			3	5425	-			0						Missense_Mutation	SNP	ENST00000454682.1	37	c.5144C>A		.	.	.	.	.	.	.	.	.	.	G	8.971	0.973063	0.18736	.	.	ENSG00000196531	ENST00000454682	T	0.51325	0.71	3.67	-1.83	0.07833	.	.	.	.	.	T	0.42854	0.1221	.	.	.	0.09310	N	1	D	0.64830	0.994	P	0.48189	0.57	T	0.39881	-0.9592	7	.	.	.	.	8.8783	0.35358	0.6056:0.0:0.3944:0.0	.	1715	E9PAV3	.	H	1715	ENSP00000403817:P1715H	.	P	-	2	0	NACA	55396437	0.000000	0.05858	0.000000	0.03702	0.021000	0.10359	-0.041000	0.12084	-0.318000	0.08665	-0.350000	0.07774	CCT		0.498	NACA-201	KNOWN	basic	protein_coding	protein_coding		NM_005594		84	150	1	0	1.06222e-33	1	1.19224e-33	84	150					T	57110170	G	T	57110170	3	4	435	1	0	0	0	0	1	0	0	0	10133	1000	35	5	1120	5	NACA	12	57110170	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	106185	57110170	76741725	5756	26681											
NACA	4666	broad.mit.edu	37	chr12	57113481	57113481	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccgaggagttaacacccagAggggaggtcatactgctggc	10	6	15	10	1	1	1	1	0	0	1	1	4	1	3	2	5	3	2	2	5	2	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:57113481A>G	ENST00000454682.1	-	3	2114	c.1833T>C	c.(1831-1833)ccT>ccC	p.P611P	NACA_ENST00000548563.1_Intron|NACA_ENST00000546392.1_Intron|NACA_ENST00000393891.4_Intron|NACA_ENST00000550952.1_Intron|NACA_ENST00000551793.1_Intron|NACA_ENST00000356769.3_Intron|NACA_ENST00000552540.1_Intron	NM_001113203.2	NP_001106674.2	E9PAV3	NACAM_HUMAN	nascent polypeptide-associated complex alpha subunit	611	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						TAACACCCAGAGGGGAGGTCA	0.517			T	BCL6	NHL																																	ENST00000454682.1				Dom	yes		12	12q23-q24.1	4666	T	nascent-polypeptide-associated complex alpha polypeptide			L	BCL6		NHL		0				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						c.(1831-1833)ccT>ccC		nascent polypeptide-associated complex alpha subunit							47	47	47					12																	57113481		1568	3582	5150	SO:0001819	synonymous_variant	4666				interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation	nascent polypeptide-associated complex|nucleus	DNA binding	g.chr12:57113481A>G	X80909	CCDS31837.1, CCDS44925.1, CCDS44925.2	12q23-q24.1	2008-09-05	2007-04-20		ENSG00000196531	ENSG00000196531			7629	protein-coding gene	gene with protein product		601234	"nascent-polypeptide-associated complex alpha polypeptide"			8047162	Standard	NM_001113202		Approved	NACA1	uc001sma.2	E9PAV3		ENST00000454682.1:c.1833T>C	12.37:g.57113481A>G						NACA_ENST00000550952.1_Intron|NACA_ENST00000546392.1_Intron|NACA_ENST00000356769.3_Intron|NACA_ENST00000548563.1_Intron|NACA_ENST00000393891.4_Intron|NACA_ENST00000551793.1_Intron|NACA_ENST00000552540.1_Intron	p.P611P	NM_001113203.2	NP_001106674.2	Q13765	NACA_HUMAN			3	2114	-			82						Silent	SNP	ENST00000454682.1	37	c.1833T>C																																																																																					0.517	NACA-201	KNOWN	basic	protein_coding	protein_coding		NM_005594		16	17	0	0	0	1	0	16	17					G	57113481	A	G	57113481	2	3	435	1	0	0	0	0	0	0	0	1	10133	291	11	4		4	NACA	12	57113481	Silent	SNP	A	TCGA-XK-AAIW-01A-11D-A41K-08	3311	57113481	76738414	5757	26682											
SDR9C7	121214	broad.mit.edu	37	chr12	57324035	57324035	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gctgtcagagaaggcctcaaCgccaaacttggagacgcagt	12	6	12	11	2	2	2	2	0	0	2	2	4	2	2	2	2	2	2	2	2	3	1	rs373500587		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:57324035C>T	ENST00000293502.1	-	2	678	c.535G>A	c.(535-537)Gtt>Att	p.V179I		NM_148897.2	NP_683695.1	Q8NEX9	DR9C7_HUMAN	short chain dehydrogenase/reductase family 9C, member 7	179					oxidation-reduction process (GO:0055114)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)	retinol dehydrogenase activity (GO:0004745)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|pancreas(1)	7						AAGGCCTCAACGCCAAACTTG	0.547																																						ENST00000293502.1																			0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|pancreas(1)	7						c.(535-537)Gtt>Att		short chain dehydrogenase/reductase family 9C, member 7		C	ILE/VAL	0,4406		0,0,2203	128	126	126		535	4.7	0.5	12		126	1,8599	1.2+/-3.3	0,1,4299	no	missense	SDR9C7	NM_148897.2	29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	179/314	57324035	1,13005	2203	4300	6503	SO:0001583	missense	121214					cytoplasm	binding|oxidoreductase activity	g.chr12:57324035C>T	AY044434	CCDS8926.1	12q13.3	2014-09-04			ENSG00000170426	ENSG00000170426	1.1.1.-	"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"	29958	protein-coding gene	gene with protein product		609769				12234675, 19027726	Standard	NM_148897		Approved	SDR-O, RDHS	uc010sqw.2	Q8NEX9	OTTHUMG00000171004	ENST00000293502.1:c.535G>A	12.37:g.57324035C>T	ENSP00000293502:p.Val179Ile						p.V179I	NM_148897.2	NP_683695.1	Q8NEX9	DR9C7_HUMAN			2	678	-			179					B3KVB4	Missense_Mutation	SNP	ENST00000293502.1	37	c.535G>A	CCDS8926.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.233444	0.79688	0.0	1.16E-4	ENSG00000170426	ENST00000293502	D	0.88586	-2.4	5.56	4.66	0.58398	Short-chain dehydrogenase/reductase, conserved site (1);NAD(P)-binding domain (1);	0.105273	0.40385	N	0.001110	D	0.92890	0.7738	M	0.71920	2.185	0.48341	D	0.999637	D	0.64830	0.994	P	0.62184	0.899	D	0.92644	0.6127	10	0.45353	T	0.12	.	15.3875	0.74714	0.0:0.8598:0.1402:0.0	.	179	Q8NEX9	DR9C7_HUMAN	I	179	ENSP00000293502:V179I	ENSP00000293502:V179I	V	-	1	0	SDR9C7	55610302	0.844000	0.29557	0.546000	0.28166	0.790000	0.44656	1.753000	0.38359	1.334000	0.45468	0.650000	0.86243	GTT		0.547	SDR9C7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411211.1	NM_148897		31	47	0	0	0	1	0	31	47					T	57324035	C	T	57324035	3	4	435	1	0	0	0	0	1	0	0	0	13974	536	19	1	418	1	SDR9C7	12	57324035	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	210554	57324035	76527860	5758	26683											
MYO1A	4640	broad.mit.edu	37	chr12	57430850	57430850	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagctgctggagtctcaggCgcctctgttcttcgaggtag	5	11	13	12	2	3	0	1	0	3	0	5	2	3	1	2	3	2	4	2	3	1	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:57430850C>T	ENST00000442789.2	-	21	2368	c.2081G>A	c.(2080-2082)cGc>cAc	p.R694H	MYO1A_ENST00000544473.1_Missense_Mutation_p.R532H|MYO1A_ENST00000476795.1_5'Flank|MYO1A_ENST00000300119.3_Missense_Mutation_p.R694H	NM_001256041.1	NP_001242970.1	Q9UBC5	MYO1A_HUMAN	myosin IA	694	Myosin motor.				microvillus assembly (GO:0030033)|sensory perception of sound (GO:0007605)|vesicle localization (GO:0051648)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|basolateral plasma membrane (GO:0016323)|brush border (GO:0005903)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|filamentous actin (GO:0031941)|lateral plasma membrane (GO:0016328)|microvillus (GO:0005902)|myosin complex (GO:0016459)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(7)|urinary_tract(3)	50						GAGTCTCAGGCGCCTCTGTTC	0.562																																						ENST00000442789.2																			0				breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(7)|urinary_tract(3)	50						c.(2080-2082)cGc>cAc		myosin IA							81	85	84					12																	57430850		2203	4300	6503	SO:0001583	missense	4640				sensory perception of sound|vesicle localization	brush border|cortical actin cytoskeleton|filamentous actin|lateral plasma membrane|microvillus|myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	g.chr12:57430850C>T	L29137	CCDS8929.1	12q13-q15	2011-09-27			ENSG00000166866	ENSG00000166866		"Myosins / Myosin superfamily : Class I"	7595	protein-coding gene	gene with protein product		601478		MYHL, DFNA48		8884266, 12736868	Standard	NM_001256041		Approved		uc009zpd.3	Q9UBC5	OTTHUMG00000149899	ENST00000442789.2:c.2081G>A	12.37:g.57430850C>T	ENSP00000393392:p.Arg694His					MYO1A_ENST00000300119.3_Missense_Mutation_p.R694H|MYO1A_ENST00000544473.1_Missense_Mutation_p.R532H	p.R694H	NM_001256041.1	NP_001242970.1	Q9UBC5	MYO1A_HUMAN			21	2368	-			694					Q9UQD7	Missense_Mutation	SNP	ENST00000442789.2	37	c.2081G>A	CCDS8929.1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.440198	0.83993	.	.	ENSG00000166866	ENST00000300119;ENST00000442789;ENST00000544473	T;T;T	0.71817	-0.6;-0.6;-0.6	5.46	4.57	0.56435	Myosin head, motor domain (1);	0.000000	0.85682	D	0.000000	T	0.68787	0.3039	L	0.42487	1.325	0.41120	D	0.985804	D	0.65815	0.995	P	0.49502	0.613	T	0.71038	-0.4708	10	0.52906	T	0.07	.	12.1287	0.53930	0.0:0.9161:0.0:0.0839	.	694	Q9UBC5	MYO1A_HUMAN	H	694;694;532	ENSP00000300119:R694H;ENSP00000393392:R694H;ENSP00000440514:R532H	ENSP00000300119:R694H	R	-	2	0	MYO1A	55717117	0.888000	0.30383	1.000000	0.80357	0.980000	0.70556	1.499000	0.35671	1.308000	0.44962	0.563000	0.77884	CGC		0.562	MYO1A-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313833.2	NM_005379		23	44	0	0	0	1	0	23	44					T	57430850	C	T	57430850	3	4	435	1	0	0	0	0	1	0	0	0	10068	768	27	1	1086	1	MYO1A	12	57430850	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	106815	57430850	76421045	5759	26684											
TMEM194A	23306	broad.mit.edu	37	chr12	57454725	57454725	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttctgctcccttacacacCtttctgtgctcaccaaaata	9	15	3	14	0	3	0	1	0	2	0	4	0	4	0	3	0	3	2	3	0	4	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:57454725C>A	ENST00000300128.4	-	8	1007	c.984G>T	c.(982-984)aaG>aaT	p.K328N	TMEM194A_ENST00000379391.3_Missense_Mutation_p.K255N	NM_001130963.1	NP_001124435.1	O14524	T194A_HUMAN	transmembrane protein 194A	328						integral component of membrane (GO:0016021)				endometrium(3)|large_intestine(3)|lung(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						CCTTACACACCTTTCTGTGCT	0.443																																						ENST00000300128.4																			0				endometrium(3)|large_intestine(3)|lung(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						c.(982-984)aaG>aaT		transmembrane protein 194A							82	82	82					12																	57454725		2203	4300	6503	SO:0001583	missense	23306					integral to membrane		g.chr12:57454725C>A	AB006624	CCDS31841.1, CCDS44927.1	12q13.3	2008-06-10	2008-06-10	2008-06-10		ENSG00000166881			29001	protein-coding gene	gene with protein product			"transmembrane protein 194"	TMEM194			Standard	NM_015257		Approved	KIAA0286	uc001smy.3	O14524		ENST00000300128.4:c.984G>T	12.37:g.57454725C>A	ENSP00000300128:p.Lys328Asn					TMEM194A_ENST00000379391.3_Missense_Mutation_p.K255N	p.K328N	NM_001130963.1	NP_001124435.1	O14524	T194A_HUMAN			8	1007	-			328					Q17R72|Q68DH0|Q6IQ25	Missense_Mutation	SNP	ENST00000300128.4	37	c.984G>T	CCDS44927.1	.	.	.	.	.	.	.	.	.	.	C	13.92	2.381204	0.42207	.	.	ENSG00000166881	ENST00000379391;ENST00000300128	T;T	0.47177	0.85;0.85	6.07	4.16	0.48862	Domain of unknown function DUF2215 (1);	0.425542	0.26955	N	0.021648	T	0.45617	0.1351	L	0.47716	1.5	0.58432	D	0.999999	B;P	0.49783	0.199;0.928	B;P	0.49922	0.186;0.626	T	0.41360	-0.9513	10	0.46703	T	0.11	-7.1051	6.0587	0.19826	0.0:0.6832:0.1553:0.1616	.	328;255	O14524;O14524-2	T194A_HUMAN;.	N	255;328	ENSP00000368701:K255N;ENSP00000300128:K328N	ENSP00000300128:K328N	K	-	3	2	TMEM194A	55740992	0.974000	0.33945	0.995000	0.50966	0.883000	0.51084	1.815000	0.38981	1.578000	0.49821	0.650000	0.86243	AAG		0.443	TMEM194A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411272.1	NM_015257		21	27	1	0	5.35356e-11	1	5.74024e-11	21	27					A	57454725	C	A	57454725	3	1	435	1	0	0	0	0	1	0	0	0	16113	680	24	5	358	5	TMEM194A	12	57454725	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	23875	57454725	76397170	5760	26685											
NAB2	4665	broad.mit.edu	37	chr12	57485260	57485260	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggagcatgagcaatgggcatGgcagcccaggggaaaaggca	13	3	17	8	0	0	1	0	1	0	0	0	3	0	3	1	6	3	5	1	6	3	0	rs372063074		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:57485260G>T	ENST00000300131.3	+	2	814	c.436G>T	c.(436-438)Ggc>Tgc	p.G146C	NAB2_ENST00000342556.6_Missense_Mutation_p.G146C|NAB2_ENST00000554718.1_3'UTR|NAB2_ENST00000357680.4_Missense_Mutation_p.G146C	NM_005967.3	NP_005958.1	Q15742	NAB2_HUMAN	NGFI-A binding protein 2 (EGR1 binding protein 2)	146					cell proliferation (GO:0008283)|endochondral ossification (GO:0001958)|myelination (GO:0042552)|negative regulation of transcription from RNA polymerase III promoter (GO:0016480)|nervous system development (GO:0007399)|regulation of epidermis development (GO:0045682)|Schwann cell differentiation (GO:0014037)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	20						CAATGGGCATGGCAGCCCAGG	0.602																																						ENST00000300131.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	20						c.(436-438)Ggc>Tgc		NGFI-A binding protein 2 (EGR1 binding protein 2)							67	69	68					12																	57485260		2203	4300	6503	SO:0001583	missense	4665				cell proliferation|negative regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	nucleus	transcription corepressor activity	g.chr12:57485260G>T	BC065931	CCDS8930.1	12q13.3	2008-05-14				ENSG00000166886			7627	protein-coding gene	gene with protein product		602381				8668170, 8649813	Standard	XM_005268894		Approved	MADER	uc001smz.3	Q15742		ENST00000300131.3:c.436G>T	12.37:g.57485260G>T	ENSP00000300131:p.Gly146Cys					NAB2_ENST00000554718.1_3'UTR|NAB2_ENST00000357680.4_Missense_Mutation_p.G146C|NAB2_ENST00000342556.6_Missense_Mutation_p.G146C	p.G146C	NM_005967.3	NP_005958.1	Q15742	NAB2_HUMAN			2	814	+			146					B2RAK3|O76006|Q14797	Missense_Mutation	SNP	ENST00000300131.3	37	c.436G>T	CCDS8930.1	.	.	.	.	.	.	.	.	.	.	G	17.62	3.434996	0.62955	.	.	ENSG00000166886	ENST00000300131;ENST00000342556;ENST00000357680	.	.	.	4.4	2.41	0.29592	.	0.609278	0.15438	N	0.262344	T	0.41811	0.1175	N	0.12182	0.205	0.40141	D	0.976839	D	0.71674	0.998	D	0.66602	0.945	T	0.43147	-0.9409	9	0.66056	D	0.02	-7.144	2.9272	0.05788	0.2619:0.0:0.528:0.2101	.	146	Q15742	NAB2_HUMAN	C	146	.	ENSP00000300131:G146C	G	+	1	0	NAB2	55771527	0.832000	0.29368	0.963000	0.40424	0.893000	0.52053	1.215000	0.32431	0.377000	0.24735	0.462000	0.41574	GGC		0.602	NAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412222.1	NM_005967		26	35	1	0	4.22769e-11	1	4.54161e-11	26	35					T	57485260	G	T	57485260	3	4	435	1	0	0	0	0	1	0	0	0	10132	1348	47	5	442	5	NAB2	12	57485260	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	30535	57485260	76366635	5761	26686											
STAT6	6778	broad.mit.edu	37	chr12	57496631	57496631	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatctcagagaaggcattgTcccacaggatagtggctttg	10	10	11	10	0	1	1	1	0	1	1	3	3	2	2	2	3	0	2	2	3	2	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:57496631T>C	ENST00000300134.3	-	12	1611	c.1286A>G	c.(1285-1287)gAc>gGc	p.D429G	STAT6_ENST00000556155.1_Missense_Mutation_p.D429G|STAT6_ENST00000538913.2_Missense_Mutation_p.D319G|STAT6_ENST00000543873.2_Missense_Mutation_p.D429G|STAT6_ENST00000537215.2_Missense_Mutation_p.D319G|STAT6_ENST00000454075.3_Missense_Mutation_p.D429G	NM_001178078.1|NM_003153.4	NP_001171549.1|NP_003144.3	P42226	STAT6_HUMAN	signal transducer and activator of transcription 6, interleukin-4 induced	429					cellular response to hydrogen peroxide (GO:0070301)|cellular response to reactive nitrogen species (GO:1902170)|innate immune response (GO:0045087)|interleukin-4-mediated signaling pathway (GO:0035771)|mammary gland epithelial cell proliferation (GO:0033598)|mammary gland morphogenesis (GO:0060443)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of type 2 immune response (GO:0002829)|positive regulation of isotype switching to IgE isotypes (GO:0048295)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of cell proliferation (GO:0042127)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|T-helper 1 cell lineage commitment (GO:0002296)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane raft (GO:0045121)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|protein phosphatase binding (GO:0019903)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(2)|lung(8)|ovary(4)|skin(1)	28						GAAGGCATTGTCCCACAGGAT	0.572																																						ENST00000300134.3																			0				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(2)|lung(8)|ovary(4)|skin(1)	28						c.(1285-1287)gAc>gGc		signal transducer and activator of transcription 6, interleukin-4 induced							149	115	126					12																	57496631		2203	4300	6503	SO:0001583	missense	6778				regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	calcium ion binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr12:57496631T>C	BC005823, BQ028928	CCDS8931.1, CCDS53804.1	12q13	2013-02-14				ENSG00000166888		"SH2 domain containing"	11368	protein-coding gene	gene with protein product		601512				9605853, 8085155	Standard	NM_003153		Approved	D12S1644, IL-4-STAT	uc001sna.3	P42226		ENST00000300134.3:c.1286A>G	12.37:g.57496631T>C	ENSP00000300134:p.Asp429Gly					STAT6_ENST00000537215.2_Missense_Mutation_p.D319G|STAT6_ENST00000454075.3_Missense_Mutation_p.D429G|STAT6_ENST00000556155.1_Missense_Mutation_p.D429G|STAT6_ENST00000543873.2_Missense_Mutation_p.D429G|STAT6_ENST00000538913.2_Missense_Mutation_p.D319G	p.D429G	NM_001178078.1|NM_003153.4	NP_001171549.1|NP_003144.3	P42226	STAT6_HUMAN			12	1611	-			429					A8K316|B7ZA27|F5GXI9|Q5FBW5|Q71UP4	Missense_Mutation	SNP	ENST00000300134.3	37	c.1286A>G	CCDS8931.1	.	.	.	.	.	.	.	.	.	.	T	26.3	4.722868	0.89298	.	.	ENSG00000166888	ENST00000300134;ENST00000535201;ENST00000538913;ENST00000543873;ENST00000556155;ENST00000537215;ENST00000454075;ENST00000542721;ENST00000542516	D;D;D;D;D;D	0.88431	-2.38;-2.38;-2.38;-2.38;-2.38;-2.38	5.44	5.44	0.79542	STAT transcription factor, DNA-binding (1);p53-like transcription factor, DNA-binding (1);EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	D	0.94384	0.8194	M	0.83774	2.66	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.94965	0.8112	10	0.87932	D	0	-26.3444	13.4858	0.61364	0.0:0.0:0.0:1.0	.	429;429	A8K4S9;P42226	.;STAT6_HUMAN	G	429;319;319;429;429;319;429;319;429	ENSP00000300134:D429G;ENSP00000445409:D319G;ENSP00000438451:D429G;ENSP00000451742:D429G;ENSP00000444530:D319G;ENSP00000401486:D429G	ENSP00000300134:D429G	D	-	2	0	STAT6	55782898	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.687000	0.84139	2.285000	0.76669	0.528000	0.53228	GAC		0.572	STAT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412248.3	NM_003153		16	23	0	0	0	1	0	16	23					C	57496631	T	C	57496631	3	2	435	1	0	0	0	0	1	0	0	0	15269	1667	58	4	1301	4	STAT6	12	57496631	Missense_Mutation	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	11371	57496631	76355264	5762	26687											
LRP1	4035	broad.mit.edu	37	chr12	57539195	57539195	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggacagtgctgctcagacgCagctcaagtgtgcccgcatg	8	7	14	12	2	2	1	2	0	0	1	2	2	2	2	1	1	4	5	1	1	1	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:57539195C>T	ENST00000243077.3	+	6	1229	c.763C>T	c.(763-765)Cag>Tag	p.Q255*	RP11-545N8.3_ENST00000555461.1_RNA|LRP1_ENST00000553277.1_Nonsense_Mutation_p.Q255*|RP11-545N8.3_ENST00000554476.1_RNA|LRP1_ENST00000554174.1_Nonsense_Mutation_p.Q255*|LRP1_ENST00000338962.4_Nonsense_Mutation_p.Q255*	NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	255					aging (GO:0007568)|aorta morphogenesis (GO:0035909)|apoptotic cell clearance (GO:0043277)|beta-amyloid clearance (GO:0097242)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of platelet-derived growth factor receptor-beta signaling pathway (GO:2000587)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of Wnt signaling pathway (GO:0030178)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of lipid transport (GO:0032370)|positive regulation of protein transport (GO:0051222)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|receptor-mediated endocytosis (GO:0006898)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cholesterol transport (GO:0032374)|regulation of phospholipase A2 activity (GO:0032429)|retinoid metabolic process (GO:0001523)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|lipoprotein particle receptor binding (GO:0070325)|lipoprotein transporter activity (GO:0042954)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|receptor activity (GO:0004872)			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	TGCTCAGACGCAGCTCAAGTG	0.582																																						ENST00000243077.3																			0				NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184						c.(763-765)Cag>Tag		low density lipoprotein receptor-related protein 1	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)						121	77	92					12																	57539195		2203	4300	6503	SO:0001587	stop_gained	4035				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity	g.chr12:57539195C>T	X13916	CCDS8932.1	12q13.3	2013-05-28	2010-01-26		ENSG00000123384	ENSG00000123384		"CD molecules", "Low density lipoprotein receptors"	6692	protein-coding gene	gene with protein product		107770	"alpha-2-macroglobulin receptor"	APR, A2MR		2548950	Standard	NM_002332		Approved	LRP, CD91, LRP1A, APOER	uc001snd.3	Q07954	OTTHUMG00000044412	ENST00000243077.3:c.763C>T	12.37:g.57539195C>T	ENSP00000243077:p.Gln255*					LRP1_ENST00000338962.4_Nonsense_Mutation_p.Q255*|LRP1_ENST00000554174.1_Nonsense_Mutation_p.Q255*|LRP1_ENST00000553277.1_Nonsense_Mutation_p.Q255*|RP11-545N8.3_ENST00000555461.1_RNA	p.Q255*	NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.0103)	6	1229	+			255					Q2PP12|Q86SW0|Q8IVG8	Nonsense_Mutation	SNP	ENST00000243077.3	37	c.763C>T	CCDS8932.1	.	.	.	.	.	.	.	.	.	.	C	37	6.149619	0.97324	.	.	ENSG00000123384	ENST00000553277;ENST00000243077;ENST00000338962;ENST00000554174	.	.	.	4.97	4.97	0.65823	.	0.088530	0.47455	D	0.000221	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05620	T	0.96	.	11.0636	0.47961	0.1849:0.8151:0.0:0.0	.	.	.	.	X	255	.	ENSP00000243077:Q255X	Q	+	1	0	LRP1	55825462	0.963000	0.33076	0.990000	0.47175	0.964000	0.63967	2.262000	0.43285	2.764000	0.94973	0.650000	0.86243	CAG		0.582	LRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412772.2	NM_002332		15	20	0	0	0	1	0	15	20					T	57539195	C	T	57539195	4	4	435	1	0	0	0	0	0	1	0	0	8951	711	25	3	785	3	LRP1	12	57539195	Nonsense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	42564	57539195	76312700	5763	26688											
LRP1	4035	broad.mit.edu	37	chr12	57559687	57559687	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctggaagtgtgacggagacaAcgattgcctggacaacagtg	12	7	14	8	2	0	2	0	1	0	1	0	6	0	4	1	3	3	0	1	3	3	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:57559687A>G	ENST00000243077.3	+	16	3096	c.2630A>G	c.(2629-2631)aAc>aGc	p.N877S		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	877	LDL-receptor class A 3. {ECO:0000255|PROSITE-ProRule:PRU00124}.				aging (GO:0007568)|aorta morphogenesis (GO:0035909)|apoptotic cell clearance (GO:0043277)|beta-amyloid clearance (GO:0097242)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of platelet-derived growth factor receptor-beta signaling pathway (GO:2000587)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of Wnt signaling pathway (GO:0030178)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of lipid transport (GO:0032370)|positive regulation of protein transport (GO:0051222)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|receptor-mediated endocytosis (GO:0006898)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cholesterol transport (GO:0032374)|regulation of phospholipase A2 activity (GO:0032429)|retinoid metabolic process (GO:0001523)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|lipoprotein particle receptor binding (GO:0070325)|lipoprotein transporter activity (GO:0042954)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|receptor activity (GO:0004872)			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	GACGGAGACAACGATTGCCTG	0.652																																						ENST00000243077.3																			0				NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184						c.(2629-2631)aAc>aGc		low density lipoprotein receptor-related protein 1	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)						84	68	73					12																	57559687		2203	4300	6503	SO:0001583	missense	4035				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity	g.chr12:57559687A>G	X13916	CCDS8932.1	12q13.3	2013-05-28	2010-01-26		ENSG00000123384	ENSG00000123384		"CD molecules", "Low density lipoprotein receptors"	6692	protein-coding gene	gene with protein product		107770	"alpha-2-macroglobulin receptor"	APR, A2MR		2548950	Standard	NM_002332		Approved	LRP, CD91, LRP1A, APOER	uc001snd.3	Q07954	OTTHUMG00000044412	ENST00000243077.3:c.2630A>G	12.37:g.57559687A>G	ENSP00000243077:p.Asn877Ser						p.N877S	NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.0103)	16	3096	+			877			LDL-receptor class A 3.		Q2PP12|Q86SW0|Q8IVG8	Missense_Mutation	SNP	ENST00000243077.3	37	c.2630A>G	CCDS8932.1	.	.	.	.	.	.	.	.	.	.	A	23.7	4.451167	0.84209	.	.	ENSG00000123384	ENST00000243077	D	0.95588	-3.75	5.22	5.22	0.72569	Low-density lipoprotein (LDL) receptor class A, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.96494	0.8856	L	0.54908	1.71	0.80722	D	1	D	0.76494	0.999	D	0.79108	0.992	D	0.95316	0.8416	10	0.28530	T	0.3	.	14.5309	0.67926	1.0:0.0:0.0:0.0	.	877	Q07954	LRP1_HUMAN	S	877	ENSP00000243077:N877S	ENSP00000243077:N877S	N	+	2	0	LRP1	55845954	1.000000	0.71417	0.980000	0.43619	0.888000	0.51559	9.009000	0.93606	2.333000	0.79357	0.533000	0.62120	AAC		0.652	LRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412772.2	NM_002332		19	19	0	0	0	1	0	19	19					G	57559687	A	G	57559687	3	3	435	1	0	0	0	0	1	0	0	0	8951	43	2	4	2692	4	LRP1	12	57559687	Missense_Mutation	SNP	A	TCGA-XK-AAIW-01A-11D-A41K-08	20492	57559687	76292208	5764	26689											
LRP1	4035	broad.mit.edu	37	chr12	57579327	57579327	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cccccaggcaccaacgtgtgCgcggtggccaatggcgggtg	6	5	16	14	4	0	0	0	0	0	0	0	0	0	0	4	5	2	1	4	5	2	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:57579327C>T	ENST00000243077.3	+	41	6943	c.6477C>T	c.(6475-6477)tgC>tgT	p.C2159C		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	2159	EGF-like 9. {ECO:0000255|PROSITE- ProRule:PRU00076}.				aging (GO:0007568)|aorta morphogenesis (GO:0035909)|apoptotic cell clearance (GO:0043277)|beta-amyloid clearance (GO:0097242)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of platelet-derived growth factor receptor-beta signaling pathway (GO:2000587)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of Wnt signaling pathway (GO:0030178)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of lipid transport (GO:0032370)|positive regulation of protein transport (GO:0051222)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|receptor-mediated endocytosis (GO:0006898)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cholesterol transport (GO:0032374)|regulation of phospholipase A2 activity (GO:0032429)|retinoid metabolic process (GO:0001523)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|lipoprotein particle receptor binding (GO:0070325)|lipoprotein transporter activity (GO:0042954)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|receptor activity (GO:0004872)			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	CCAACGTGTGCGCGGTGGCCA	0.672																																						ENST00000243077.3																			0				NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184						c.(6475-6477)tgC>tgT		low density lipoprotein receptor-related protein 1	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)						18	19	19					12																	57579327		2161	4203	6364	SO:0001819	synonymous_variant	4035				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity	g.chr12:57579327C>T	X13916	CCDS8932.1	12q13.3	2013-05-28	2010-01-26		ENSG00000123384	ENSG00000123384		"CD molecules", "Low density lipoprotein receptors"	6692	protein-coding gene	gene with protein product		107770	"alpha-2-macroglobulin receptor"	APR, A2MR		2548950	Standard	NM_002332		Approved	LRP, CD91, LRP1A, APOER	uc001snd.3	Q07954	OTTHUMG00000044412	ENST00000243077.3:c.6477C>T	12.37:g.57579327C>T							p.C2159C	NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.0103)	41	6943	+			2159			EGF-like 9.		Q2PP12|Q86SW0|Q8IVG8	Silent	SNP	ENST00000243077.3	37	c.6477C>T	CCDS8932.1																																																																																				0.672	LRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412772.2	NM_002332		9	24	0	0	0	1	0	9	24					T	57579327	C	T	57579327	2	4	435	1	0	0	0	0	0	0	0	1	8951	776	27	1		1	LRP1	12	57579327	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	19640	57579327	76272568	5765	26690											
LRP1	4035	broad.mit.edu	37	chr12	57596234	57596234	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgtgagccataccagttccGctgcaagaacaaccgctgcg	10	7	10	14	3	0	2	0	1	0	1	1	2	1	2	4	0	6	4	4	0	4	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:57596234G>A	ENST00000243077.3	+	68	11091	c.10625G>A	c.(10624-10626)cGc>cAc	p.R3542H		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	3542	LDL-receptor class A 26. {ECO:0000255|PROSITE-ProRule:PRU00124}.				aging (GO:0007568)|aorta morphogenesis (GO:0035909)|apoptotic cell clearance (GO:0043277)|beta-amyloid clearance (GO:0097242)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of platelet-derived growth factor receptor-beta signaling pathway (GO:2000587)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of Wnt signaling pathway (GO:0030178)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of lipid transport (GO:0032370)|positive regulation of protein transport (GO:0051222)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|receptor-mediated endocytosis (GO:0006898)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cholesterol transport (GO:0032374)|regulation of phospholipase A2 activity (GO:0032429)|retinoid metabolic process (GO:0001523)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|lipoprotein particle receptor binding (GO:0070325)|lipoprotein transporter activity (GO:0042954)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|receptor activity (GO:0004872)			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	TACCAGTTCCGCTGCAAGAAC	0.607																																						ENST00000243077.3																			0				NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184						c.(10624-10626)cGc>cAc		low density lipoprotein receptor-related protein 1	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)						99	81	87					12																	57596234		2203	4300	6503	SO:0001583	missense	4035				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity	g.chr12:57596234G>A	X13916	CCDS8932.1	12q13.3	2013-05-28	2010-01-26		ENSG00000123384	ENSG00000123384		"CD molecules", "Low density lipoprotein receptors"	6692	protein-coding gene	gene with protein product		107770	"alpha-2-macroglobulin receptor"	APR, A2MR		2548950	Standard	NM_002332		Approved	LRP, CD91, LRP1A, APOER	uc001snd.3	Q07954	OTTHUMG00000044412	ENST00000243077.3:c.10625G>A	12.37:g.57596234G>A	ENSP00000243077:p.Arg3542His						p.R3542H	NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.0103)	68	11091	+			3542			LDL-receptor class A 26.		Q2PP12|Q86SW0|Q8IVG8	Missense_Mutation	SNP	ENST00000243077.3	37	c.10625G>A	CCDS8932.1	.	.	.	.	.	.	.	.	.	.	G	28.7	4.941225	0.92526	.	.	ENSG00000123384	ENST00000243077;ENST00000555124	D;D	0.96136	-3.92;-3.92	4.8	4.8	0.61643	.	0.000000	0.64402	D	0.000001	D	0.96738	0.8935	L	0.53617	1.68	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.95915	0.8926	10	0.35671	T	0.21	.	16.8682	0.86034	0.0:0.0:1.0:0.0	.	3542	Q07954	LRP1_HUMAN	H	3542;123	ENSP00000243077:R3542H;ENSP00000451012:R123H	ENSP00000243077:R3542H	R	+	2	0	LRP1	55882501	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	4.582000	0.60957	2.511000	0.84671	0.650000	0.86243	CGC		0.607	LRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412772.2	NM_002332		8	28	0	0	0	1	0	8	28					A	57596234	G	A	57596234	3	1	435	1	0	0	0	0	1	0	0	0	8951	1087	38	1	10895	1	LRP1	12	57596234	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	16907	57596234	76255661	5766	26691											
LRP1	4035	broad.mit.edu	37	chr12	57598454	57598454	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggcccttccgttgcaagaatGaccgcgtctgtctgtggatc	6	11	12	12	3	2	2	0	1	2	1	4	3	3	3	3	2	1	2	3	2	2	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:57598454G>A	ENST00000243077.3	+	72	11582	c.11116G>A	c.(11116-11118)Gac>Aac	p.D3706N		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	3706	LDL-receptor class A 30. {ECO:0000255|PROSITE-ProRule:PRU00124}.				aging (GO:0007568)|aorta morphogenesis (GO:0035909)|apoptotic cell clearance (GO:0043277)|beta-amyloid clearance (GO:0097242)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of platelet-derived growth factor receptor-beta signaling pathway (GO:2000587)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of Wnt signaling pathway (GO:0030178)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of lipid transport (GO:0032370)|positive regulation of protein transport (GO:0051222)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|receptor-mediated endocytosis (GO:0006898)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cholesterol transport (GO:0032374)|regulation of phospholipase A2 activity (GO:0032429)|retinoid metabolic process (GO:0001523)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|lipoprotein particle receptor binding (GO:0070325)|lipoprotein transporter activity (GO:0042954)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|receptor activity (GO:0004872)			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	TTGCAAGAATGACCGCGTCTG	0.627																																						ENST00000243077.3																			0				NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184						c.(11116-11118)Gac>Aac		low density lipoprotein receptor-related protein 1	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)						89	89	89					12																	57598454		2203	4300	6503	SO:0001583	missense	4035				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity	g.chr12:57598454G>A	X13916	CCDS8932.1	12q13.3	2013-05-28	2010-01-26		ENSG00000123384	ENSG00000123384		"CD molecules", "Low density lipoprotein receptors"	6692	protein-coding gene	gene with protein product		107770	"alpha-2-macroglobulin receptor"	APR, A2MR		2548950	Standard	NM_002332		Approved	LRP, CD91, LRP1A, APOER	uc001snd.3	Q07954	OTTHUMG00000044412	ENST00000243077.3:c.11116G>A	12.37:g.57598454G>A	ENSP00000243077:p.Asp3706Asn						p.D3706N	NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.0103)	72	11582	+			3706			LDL-receptor class A 30.		Q2PP12|Q86SW0|Q8IVG8	Missense_Mutation	SNP	ENST00000243077.3	37	c.11116G>A	CCDS8932.1	.	.	.	.	.	.	.	.	.	.	G	10.87	1.473820	0.26423	.	.	ENSG00000123384	ENST00000243077	T	0.57907	0.37	5.28	4.39	0.52855	.	0.231263	0.34200	N	0.004162	T	0.27798	0.0684	N	0.04335	-0.225	0.80722	D	1	B	0.16166	0.016	B	0.14023	0.01	T	0.09818	-1.0657	10	0.09590	T	0.72	.	13.2386	0.59983	0.0781:0.0:0.9219:0.0	.	3706	Q07954	LRP1_HUMAN	N	3706	ENSP00000243077:D3706N	ENSP00000243077:D3706N	D	+	1	0	LRP1	55884721	0.999000	0.42202	0.944000	0.38274	0.902000	0.53008	2.792000	0.47837	1.453000	0.47775	0.563000	0.77884	GAC		0.627	LRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412772.2	NM_002332		36	36	0	0	0	1	0	36	36					A	57598454	G	A	57598454	3	1	435	1	0	0	0	0	1	0	0	0	8951	1290	45	3	11402	3	LRP1	12	57598454	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	2220	57598454	76253441	5767	26692											
LRP1	4035	broad.mit.edu	37	chr12	57599196	57599196	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gggacgaggcacgctgcgtgCgcaccgagaaagcggcctac	9	3	16	13	6	0	1	0	0	0	1	0	4	0	2	2	3	4	3	2	3	2	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:57599196C>T	ENST00000243077.3	+	74	11864	c.11398C>T	c.(11398-11400)Cgc>Tgc	p.R3800C		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	3800	EGF-like 14. {ECO:0000255|PROSITE- ProRule:PRU00076}.				aging (GO:0007568)|aorta morphogenesis (GO:0035909)|apoptotic cell clearance (GO:0043277)|beta-amyloid clearance (GO:0097242)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of platelet-derived growth factor receptor-beta signaling pathway (GO:2000587)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of Wnt signaling pathway (GO:0030178)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of lipid transport (GO:0032370)|positive regulation of protein transport (GO:0051222)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|receptor-mediated endocytosis (GO:0006898)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cholesterol transport (GO:0032374)|regulation of phospholipase A2 activity (GO:0032429)|retinoid metabolic process (GO:0001523)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|lipoprotein particle receptor binding (GO:0070325)|lipoprotein transporter activity (GO:0042954)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|receptor activity (GO:0004872)			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	ACGCTGCGTGCGCACCGAGAA	0.677																																						ENST00000243077.3																			0				NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184						c.(11398-11400)Cgc>Tgc		low density lipoprotein receptor-related protein 1	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)						38	39	39					12																	57599196		2200	4300	6500	SO:0001583	missense	4035				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity	g.chr12:57599196C>T	X13916	CCDS8932.1	12q13.3	2013-05-28	2010-01-26		ENSG00000123384	ENSG00000123384		"CD molecules", "Low density lipoprotein receptors"	6692	protein-coding gene	gene with protein product		107770	"alpha-2-macroglobulin receptor"	APR, A2MR		2548950	Standard	NM_002332		Approved	LRP, CD91, LRP1A, APOER	uc001snd.3	Q07954	OTTHUMG00000044412	ENST00000243077.3:c.11398C>T	12.37:g.57599196C>T	ENSP00000243077:p.Arg3800Cys						p.R3800C	NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.0103)	74	11864	+			3800			EGF-like 14.		Q2PP12|Q86SW0|Q8IVG8	Missense_Mutation	SNP	ENST00000243077.3	37	c.11398C>T	CCDS8932.1	.	.	.	.	.	.	.	.	.	.	C	13.34	2.207044	0.39003	.	.	ENSG00000123384	ENST00000243077	T	0.30448	1.53	5.08	5.08	0.68730	Growth factor, receptor (1);Epidermal growth factor-like (1);	0.482768	0.20607	N	0.089060	T	0.15262	0.0368	N	0.08118	0	0.18873	N	0.999989	P	0.51653	0.947	B	0.34452	0.183	T	0.14476	-1.0471	10	0.56958	D	0.05	.	15.7509	0.77986	0.0:1.0:0.0:0.0	.	3800	Q07954	LRP1_HUMAN	C	3800	ENSP00000243077:R3800C	ENSP00000243077:R3800C	R	+	1	0	LRP1	55885463	0.593000	0.26840	1.000000	0.80357	0.626000	0.37791	1.719000	0.38011	2.537000	0.85549	0.655000	0.94253	CGC		0.677	LRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412772.2	NM_002332		5	11	0	0	0	1	0	5	11					T	57599196	C	T	57599196	3	4	435	1	0	0	0	0	1	0	0	0	8951	768	27	1	11692	1	LRP1	12	57599196	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	742	57599196	76252699	5768	26693											
LRP1	4035	broad.mit.edu	37	chr12	57603498	57603498	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	taagtcaccccttcagcatcGacgtctttgaggattacatc	10	12	7	12	2	3	1	2	1	1	0	5	3	3	2	2	1	2	1	2	1	2	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:57603498G>A	ENST00000243077.3	+	80	12752	c.12286G>A	c.(12286-12288)Gac>Aac	p.D4096N		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	4096					aging (GO:0007568)|aorta morphogenesis (GO:0035909)|apoptotic cell clearance (GO:0043277)|beta-amyloid clearance (GO:0097242)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of platelet-derived growth factor receptor-beta signaling pathway (GO:2000587)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of Wnt signaling pathway (GO:0030178)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of lipid transport (GO:0032370)|positive regulation of protein transport (GO:0051222)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|receptor-mediated endocytosis (GO:0006898)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cholesterol transport (GO:0032374)|regulation of phospholipase A2 activity (GO:0032429)|retinoid metabolic process (GO:0001523)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|lipoprotein particle receptor binding (GO:0070325)|lipoprotein transporter activity (GO:0042954)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|receptor activity (GO:0004872)			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	CTTCAGCATCGACGTCTTTGA	0.562																																						ENST00000243077.3																			0				NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184						c.(12286-12288)Gac>Aac		low density lipoprotein receptor-related protein 1	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)						116	100	105					12																	57603498		2203	4300	6503	SO:0001583	missense	4035				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity	g.chr12:57603498G>A	X13916	CCDS8932.1	12q13.3	2013-05-28	2010-01-26		ENSG00000123384	ENSG00000123384		"CD molecules", "Low density lipoprotein receptors"	6692	protein-coding gene	gene with protein product		107770	"alpha-2-macroglobulin receptor"	APR, A2MR		2548950	Standard	NM_002332		Approved	LRP, CD91, LRP1A, APOER	uc001snd.3	Q07954	OTTHUMG00000044412	ENST00000243077.3:c.12286G>A	12.37:g.57603498G>A	ENSP00000243077:p.Asp4096Asn						p.D4096N	NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.0103)	80	12752	+			4096					Q2PP12|Q86SW0|Q8IVG8	Missense_Mutation	SNP	ENST00000243077.3	37	c.12286G>A	CCDS8932.1	.	.	.	.	.	.	.	.	.	.	G	25.3	4.624511	0.87560	.	.	ENSG00000123384	ENST00000243077	D	0.91124	-2.79	4.45	4.45	0.53987	Six-bladed beta-propeller, TolB-like (1);Growth factor, receptor (1);	0.000000	0.64402	D	0.000001	D	0.95411	0.8510	M	0.85710	2.77	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.94903	0.8058	10	0.40728	T	0.16	.	16.3785	0.83418	0.0:0.0:1.0:0.0	.	4096	Q07954	LRP1_HUMAN	N	4096	ENSP00000243077:D4096N	ENSP00000243077:D4096N	D	+	1	0	LRP1	55889765	1.000000	0.71417	0.998000	0.56505	0.988000	0.76386	7.408000	0.80041	2.486000	0.83907	0.557000	0.71058	GAC		0.562	LRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412772.2	NM_002332		9	12	0	0	0	1	0	9	12					A	57603498	G	A	57603498	3	1	435	1	0	0	0	0	1	0	0	0	8951	1058	37	2	12604	2	LRP1	12	57603498	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	4302	57603498	76248397	5769	26694											
LRP1	4035	broad.mit.edu	37	chr12	57604585	57604585	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gggctactgtgccaacaacaGcacctgcactgtcaaccagg	11	6	10	14	0	1	0	1	0	0	0	1	0	1	0	3	2	7	3	3	2	4	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:57604585G>A	ENST00000243077.3	+	83	13305	c.12839G>A	c.(12838-12840)aGc>aAc	p.S4280N		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	4280	EGF-like 19. {ECO:0000255|PROSITE- ProRule:PRU00076}.				aging (GO:0007568)|aorta morphogenesis (GO:0035909)|apoptotic cell clearance (GO:0043277)|beta-amyloid clearance (GO:0097242)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of platelet-derived growth factor receptor-beta signaling pathway (GO:2000587)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of Wnt signaling pathway (GO:0030178)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of lipid transport (GO:0032370)|positive regulation of protein transport (GO:0051222)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|receptor-mediated endocytosis (GO:0006898)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cholesterol transport (GO:0032374)|regulation of phospholipase A2 activity (GO:0032429)|retinoid metabolic process (GO:0001523)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|lipoprotein particle receptor binding (GO:0070325)|lipoprotein transporter activity (GO:0042954)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|receptor activity (GO:0004872)			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	GCCAACAACAGCACCTGCACT	0.672																																						ENST00000243077.3																			0				NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184						c.(12838-12840)aGc>aAc		low density lipoprotein receptor-related protein 1	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)						57	59	58					12																	57604585		2203	4300	6503	SO:0001583	missense	4035				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity	g.chr12:57604585G>A	X13916	CCDS8932.1	12q13.3	2013-05-28	2010-01-26		ENSG00000123384	ENSG00000123384		"CD molecules", "Low density lipoprotein receptors"	6692	protein-coding gene	gene with protein product		107770	"alpha-2-macroglobulin receptor"	APR, A2MR		2548950	Standard	NM_002332		Approved	LRP, CD91, LRP1A, APOER	uc001snd.3	Q07954	OTTHUMG00000044412	ENST00000243077.3:c.12839G>A	12.37:g.57604585G>A	ENSP00000243077:p.Ser4280Asn						p.S4280N	NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.0103)	83	13305	+			4280			EGF-like 19.		Q2PP12|Q86SW0|Q8IVG8	Missense_Mutation	SNP	ENST00000243077.3	37	c.12839G>A	CCDS8932.1	.	.	.	.	.	.	.	.	.	.	G	24.3	4.518272	0.85495	.	.	ENSG00000123384	ENST00000243077	T	0.10288	2.89	4.45	4.45	0.53987	Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.068173	0.64402	D	0.000018	T	0.09598	0.0236	L	0.29908	0.895	0.80722	D	1	B	0.23937	0.094	B	0.18871	0.023	T	0.17684	-1.0361	10	0.31617	T	0.26	.	16.3851	0.83502	0.0:0.0:1.0:0.0	.	4280	Q07954	LRP1_HUMAN	N	4280	ENSP00000243077:S4280N	ENSP00000243077:S4280N	S	+	2	0	LRP1	55890852	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.397000	0.79903	2.502000	0.84385	0.462000	0.41574	AGC		0.672	LRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412772.2	NM_002332		19	19	0	0	0	1	0	19	19					A	57604585	G	A	57604585	3	1	435	1	0	0	0	0	1	0	0	0	8951	971	34	3	13169	3	LRP1	12	57604585	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	1087	57604585	76247310	5770	26695											
GLI1	2735	broad.mit.edu	37	chr12	57863392	57863392	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cactggtctgtccactcttcGccgccttgagaacctcaggc	6	10	9	16	2	3	1	1	1	2	1	5	2	4	1	4	2	1	0	4	2	1	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:57863392G>A	ENST00000228682.2	+	11	1578	c.1487G>A	c.(1486-1488)cGc>cAc	p.R496H	GLI1_ENST00000546141.1_Missense_Mutation_p.R455H|GLI1_ENST00000543426.1_Missense_Mutation_p.R368H	NM_005269.2	NP_005260.1	P08151	GLI1_HUMAN	GLI family zinc finger 1	496					cerebellar cortex morphogenesis (GO:0021696)|digestive tract morphogenesis (GO:0048546)|dorsal/ventral pattern formation (GO:0009953)|epidermal cell differentiation (GO:0009913)|lung development (GO:0030324)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|notochord regression (GO:0060032)|osteoblast differentiation (GO:0001649)|pituitary gland development (GO:0021983)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|proximal/distal pattern formation (GO:0009954)|regulation of smoothened signaling pathway (GO:0008589)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation (GO:0021938)|spermatogenesis (GO:0007283)|ventral midline development (GO:0007418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|primary cilium (GO:0072372)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(8)|lung(22)|ovary(6)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69			GBM - Glioblastoma multiforme(3;3.99e-32)			TCCACTCTTCGCCGCCTTGAG	0.597																																					Pancreas(157;841 1936 10503 41495 50368)	ENST00000228682.2																			0				NS(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(8)|lung(22)|ovary(6)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69						c.(1486-1488)cGc>cAc		GLI family zinc finger 1							95	84	88					12																	57863392		2203	4300	6503	SO:0001583	missense	2735				epidermal cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|osteoblast differentiation|positive regulation of DNA replication|positive regulation of smoothened signaling pathway|positive regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	transcription regulatory region DNA binding|zinc ion binding	g.chr12:57863392G>A		CCDS8940.1, CCDS53806.1, CCDS53807.1	12q13.2-q13.3	2013-01-25	2009-03-05	2005-01-14		ENSG00000111087		"Zinc fingers, C2H2-type"	4317	protein-coding gene	gene with protein product		165220	"glioma-associated oncogene homolog 1 (zinc finger protein)", "glioma-associated oncogene family zinc finger 1"	GLI		2850480	Standard	NM_005269		Approved		uc001snx.3	P08151		ENST00000228682.2:c.1487G>A	12.37:g.57863392G>A	ENSP00000228682:p.Arg496His					GLI1_ENST00000546141.1_Missense_Mutation_p.R455H|GLI1_ENST00000543426.1_Missense_Mutation_p.R368H	p.R496H	NM_005269.2	NP_005260.1	P08151	GLI1_HUMAN	GBM - Glioblastoma multiforme(3;3.99e-32)		11	1578	+			496					D0EUY3|E9PQQ9|F5H6H8|Q8TDN9	Missense_Mutation	SNP	ENST00000228682.2	37	c.1487G>A	CCDS8940.1	.	.	.	.	.	.	.	.	.	.	G	6.565	0.472633	0.12461	.	.	ENSG00000111087	ENST00000543426;ENST00000228682;ENST00000546141;ENST00000528467	T;T;T;T	0.13089	2.73;2.62;2.7;2.7	4.62	3.73	0.42828	.	0.264036	0.27966	N	0.017140	T	0.07188	0.0182	N	0.12471	0.22	0.40916	D	0.984274	B	0.11235	0.004	B	0.06405	0.002	T	0.25779	-1.0122	10	0.14656	T	0.56	.	10.9553	0.47354	0.0919:0.0:0.9081:0.0	.	496	P08151	GLI1_HUMAN	H	368;496;455;455	ENSP00000437607:R368H;ENSP00000228682:R496H;ENSP00000441006:R455H;ENSP00000434408:R455H	ENSP00000228682:R496H	R	+	2	0	GLI1	56149659	0.900000	0.30661	0.995000	0.50966	0.013000	0.08279	1.082000	0.30803	1.298000	0.44778	-0.150000	0.13652	CGC		0.597	GLI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394197.1	NM_005269		32	25	0	0	0	1	0	32	25					A	57863392	G	A	57863392	3	1	435	1	0	0	0	0	1	0	0	0	6437	1087	38	1	1525	1	GLI1	12	57863392	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	258807	57863392	75988503	5771	26696											
GEFT	115557	broad.mit.edu	37	chr12	58009785	58009785	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctcagatcttggagagccaaCgggacttcctcaacggtgaa	11	8	11	11	2	3	3	2	1	1	2	4	5	4	4	2	3	3	0	2	3	3	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:58009785C>T	ENST00000286494.4	+	13	1865	c.1405C>T	c.(1405-1407)Cgg>Tgg	p.R469W	AC025165.8_ENST00000444467.1_RNA|AC025165.8_ENST00000593846.1_RNA|AC025165.8_ENST00000610219.1_RNA|AC025165.8_ENST00000356672.3_RNA|ARHGEF25_ENST00000333972.7_Missense_Mutation_p.R508W	NM_182947.3	NP_891992	Q86VW2	ARHGP_HUMAN	Rho guanine nucleotide exchange factor (GEF) 25	469	Sufficient to bind activated GNAQ.					cytosol (GO:0005829)|myofibril (GO:0030016)|plasma membrane (GO:0005886)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	28						GGAGAGCCAACGGGACTTCCT	0.572																																						ENST00000286494.4																			0				breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	28						c.(1405-1407)Cgg>Tgg		Rho guanine nucleotide exchange factor (GEF) 25							132	129	130					12																	58009785		2203	4300	6503	SO:0001583	missense	115557				regulation of Rho protein signal transduction	cytosol|plasma membrane|sarcomere	Rho guanyl-nucleotide exchange factor activity	g.chr12:58009785C>T		CCDS8947.1, CCDS44931.1	12q13.3	2011-11-16			ENSG00000240771	ENSG00000240771		"Rho guanine nucleotide exchange factors"	30275	protein-coding gene	gene with protein product	"RAC/CDC42 exchange factor"	610215				12547822	Standard	NM_182947		Approved	GEFT, p63RhoGEF	uc009zpy.4	Q86VW2	OTTHUMG00000152516	ENST00000286494.4:c.1405C>T	12.37:g.58009785C>T	ENSP00000286494:p.Arg469Trp					AC025165.8_ENST00000593846.1_RNA|AC025165.8_ENST00000356672.3_RNA|ARHGEF25_ENST00000333972.7_Missense_Mutation_p.R508W|AC025165.8_ENST00000444467.1_RNA	p.R469W	NM_182947.3	NP_891992.2	Q86VW2	ARHGP_HUMAN			13	1865	+			469			Sufficient to bind activated GNAQ.		A6NJH5|A9CQZ6|F8W7Z4|Q8WV84|Q96E63	Missense_Mutation	SNP	ENST00000286494.4	37	c.1405C>T	CCDS8947.1	.	.	.	.	.	.	.	.	.	.	N	16.18	3.050005	0.55218	.	.	ENSG00000240771	ENST00000333972;ENST00000286494	T;T	0.44482	0.92;0.92	4.86	1.86	0.25419	Pleckstrin homology-type (1);	0.000000	0.34828	N	0.003649	T	0.60470	0.2271	M	0.73598	2.24	0.48511	D	0.999668	D;D	0.89917	1.0;1.0	D;D	0.79108	0.992;0.972	T	0.64210	-0.6461	10	0.87932	D	0	.	11.2187	0.48842	0.5836:0.4164:0.0:0.0	.	508;469	F8W7Z4;Q86VW2	.;ARHGP_HUMAN	W	508;469	ENSP00000335560:R508W;ENSP00000286494:R469W	ENSP00000286494:R469W	R	+	1	2	ARHGEF25	56296052	1.000000	0.71417	1.000000	0.80357	0.771000	0.43674	1.136000	0.31467	0.726000	0.32339	0.549000	0.68633	CGG		0.572	ARHGEF25-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000326561.1	NM_133483		50	56	0	0	0	1	0	50	56					T	58009785	C	T	58009785	3	4	435	1	0	0	0	0	1	0	0	0	6328	527	19	1	1677	1	GEFT	12	58009785	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	146393	58009785	75842110	5772	26697											
AGAP2	116986	broad.mit.edu	37	chr12	58121147	58121147	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttccctcacgcttaccgcgAagagtcccgcgagggcttgg	6	8	13	14	5	1	1	1	0	0	1	3	3	3	1	3	2	1	3	3	2	2	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:58121147A>T	ENST00000547588.1	-	17	3075	c.3076T>A	c.(3076-3078)Tcg>Acg	p.S1026T	AGAP2-AS1_ENST00000542466.2_Silent_p.R124R|RP11-571M6.8_ENST00000548410.2_RNA|AGAP2_ENST00000257897.3_Missense_Mutation_p.S670T	NM_001122772.2	NP_001116244.1	Q99490	AGAP2_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 2	1026	Arf-GAP. {ECO:0000255|PROSITE- ProRule:PRU00288}.				axon guidance (GO:0007411)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of protein catabolic process (GO:0042177)|protein transport (GO:0015031)|regulation of ARF GTPase activity (GO:0032312)|small GTPase mediated signal transduction (GO:0007264)	membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ARF GTPase activator activity (GO:0008060)|GTP binding (GO:0005525)|zinc ion binding (GO:0008270)			breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|large_intestine(7)|lung(20)|prostate(3)|skin(1)|stomach(1)	48						GCTTACCGCGAAGAGTCCCGC	0.672																																						ENST00000257897.3																			0				breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|large_intestine(7)|lung(20)|prostate(3)|skin(1)|stomach(1)	48						c.(2008-2010)Tcg>Acg		ArfGAP with GTPase domain, ankyrin repeat and PH domain 2							22	22	22					12																	58121147		2201	4300	6501	SO:0001583	missense	116986				axon guidance|negative regulation of neuron apoptosis|negative regulation of protein catabolic process|protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction	mitochondrion|nucleolus	ARF GTPase activator activity|GTP binding|zinc ion binding	g.chr12:58121147A>T	AF413077	CCDS8951.1, CCDS44932.1	12q13.2	2013-05-30	2008-09-22	2008-09-22	ENSG00000135439	ENSG00000135439		"ADP-ribosylation factor GTPase activating proteins", "Pleckstrin homology (PH) domain containing", "Ankyrin repeat domain containing"	16921	protein-coding gene	gene with protein product		605476	"centaurin, gamma 1"	CENTG1			Standard	NM_001122772		Approved		uc001spq.3	Q99490	OTTHUMG00000170285	ENST00000547588.1:c.3076T>A	12.37:g.58121147A>T	ENSP00000449241:p.Ser1026Thr					AGAP2_ENST00000547588.1_Missense_Mutation_p.S1026T|AGAP2-AS1_ENST00000542466.2_Silent_p.R124R	p.S670T	NM_014770.3	NP_055585.1	Q99490	AGAP2_HUMAN			16	2093	-			1026					A8K9F7|O00578|Q548E0|Q8IWU3	Missense_Mutation	SNP	ENST00000547588.1	37	c.2008T>A	CCDS44932.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	8.690|8.690	0.907240|0.907240	0.17833|0.17833	.|.	.|.	ENSG00000135439|ENSG00000135439	ENST00000328568|ENST00000257897;ENST00000547588	.|T;T	.|0.43294	.|0.95;0.95	5.0|5.0	5.0|5.0	0.66597|0.66597	.|.	.|0.070853	.|0.56097	.|D	.|0.000022	T|T	0.29850|0.29850	0.0746|0.0746	N|N	0.17723|0.17723	0.515|0.515	0.46376|0.46376	D|D	0.999018|0.999018	.|B;B;P	.|0.34629	.|0.067;0.405;0.46	.|B;B;B	.|0.39590	.|0.051;0.101;0.304	T|T	0.06144|0.06144	-1.0843|-1.0843	5|10	.|0.08381	.|T	.|0.77	.|.	13.9937|13.9937	0.64382|0.64382	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|670;1026;1026	.|Q99490-2;F8VVT9;Q99490	.|.;.;AGAP2_HUMAN	Y|T	869|670;1026	.|ENSP00000257897:S670T;ENSP00000449241:S1026T	.|ENSP00000257897:S670T	F|S	-|-	2|1	0|0	AGAP2|AGAP2	56407414|56407414	0.419000|0.419000	0.25449|0.25449	1.000000|1.000000	0.80357|0.80357	0.735000|0.735000	0.41995|0.41995	1.304000|1.304000	0.33482|0.33482	2.007000|2.007000	0.58848|0.58848	0.533000|0.533000	0.62120|0.62120	TTC|TCG		0.672	AGAP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408367.1	NM_014770		5	10	0	0	0	1	0	5	10					T	58121147	A	T	58121147	3	4	435	1	0	0	0	0	1	0	0	0	368	246	9	5	514	5	AGAP2	12	58121147	Missense_Mutation	SNP	A	TCGA-XK-AAIW-01A-11D-A41K-08	111362	58121147	75730748	5773	26698											
AGAP2	116986	broad.mit.edu	37	chr12	58123441	58123441	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttcagcctgcccagccgaGccttcagtcttggatggtgt	5	11	11	14	1	3	0	2	0	1	0	3	2	3	1	5	2	4	0	5	2	0	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:58123441G>A	ENST00000547588.1	-	13	2537	c.2538C>T	c.(2536-2538)ggC>ggT	p.G846G	AGAP2_ENST00000257897.3_Silent_p.G510G	NM_001122772.2	NP_001116244.1	Q99490	AGAP2_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 2	846	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				axon guidance (GO:0007411)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of protein catabolic process (GO:0042177)|protein transport (GO:0015031)|regulation of ARF GTPase activity (GO:0032312)|small GTPase mediated signal transduction (GO:0007264)	membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ARF GTPase activator activity (GO:0008060)|GTP binding (GO:0005525)|zinc ion binding (GO:0008270)			breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|large_intestine(7)|lung(20)|prostate(3)|skin(1)|stomach(1)	48						GCCCAGCCGAGCCTTCAGTCT	0.587																																						ENST00000257897.3																			0				breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|large_intestine(7)|lung(20)|prostate(3)|skin(1)|stomach(1)	48						c.(1528-1530)ggC>ggT		ArfGAP with GTPase domain, ankyrin repeat and PH domain 2							132	126	128					12																	58123441		2203	4300	6503	SO:0001819	synonymous_variant	116986				axon guidance|negative regulation of neuron apoptosis|negative regulation of protein catabolic process|protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction	mitochondrion|nucleolus	ARF GTPase activator activity|GTP binding|zinc ion binding	g.chr12:58123441G>A	AF413077	CCDS8951.1, CCDS44932.1	12q13.2	2013-05-30	2008-09-22	2008-09-22	ENSG00000135439	ENSG00000135439		"ADP-ribosylation factor GTPase activating proteins", "Pleckstrin homology (PH) domain containing", "Ankyrin repeat domain containing"	16921	protein-coding gene	gene with protein product		605476	"centaurin, gamma 1"	CENTG1			Standard	NM_001122772		Approved		uc001spq.3	Q99490	OTTHUMG00000170285	ENST00000547588.1:c.2538C>T	12.37:g.58123441G>A						AGAP2_ENST00000547588.1_Silent_p.G846G	p.G510G	NM_014770.3	NP_055585.1	Q99490	AGAP2_HUMAN			13	1615	-			846			G domain.		A8K9F7|O00578|Q548E0|Q8IWU3	Silent	SNP	ENST00000547588.1	37	c.1530C>T	CCDS44932.1	.	.	.	.	.	.	.	.	.	.	G	5.308	0.242257	0.10077	.	.	ENSG00000135439	ENST00000328568	.	.	.	4.39	2.56	0.30785	.	.	.	.	.	T	0.52208	0.1720	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.41980	-0.9478	4	.	.	.	.	5.1301	0.14905	0.1916:0.2805:0.5278:0.0	.	.	.	.	F	710	.	.	L	-	1	0	AGAP2	56409708	0.975000	0.34042	0.988000	0.46212	0.870000	0.49936	0.129000	0.15830	0.606000	0.29965	0.462000	0.41574	CTC		0.587	AGAP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408367.1	NM_014770		30	54	0	0	0	1	0	30	54					A	58123441	G	A	58123441	2	1	435	1	0	0	0	0	0	0	0	1	368	958	34	3		3	AGAP2	12	58123441	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	2294	58123441	75728454	5774	26699											
CYP27B1	1594	broad.mit.edu	37	chr12	58158892	58158892	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tcgccatggtcaacagcgtgGacacaaacaccgagcccaca	13	4	9	15	3	1	0	1	0	0	0	2	2	1	1	3	2	4	0	3	2	2	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:58158892G>A	ENST00000228606.4	-	4	901	c.692C>T	c.(691-693)tCc>tTc	p.S231F	CYP27B1_ENST00000546496.1_5'Flank	NM_000785.3	NP_000776.1	O15528	CP27B_HUMAN	cytochrome P450, family 27, subfamily B, polypeptide 1	231					bone mineralization (GO:0030282)|calcitriol biosynthetic process from calciol (GO:0036378)|calcium ion homeostasis (GO:0055074)|calcium ion transport (GO:0006816)|decidualization (GO:0046697)|G1 to G0 transition (GO:0070314)|negative regulation of calcidiol 1-monooxygenase activity (GO:0010956)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of vitamin D 24-hydroxylase activity (GO:0010980)|positive regulation of vitamin D receptor signaling pathway (GO:0070564)|regulation of bone mineralization (GO:0030500)|response to estrogen (GO:0043627)|response to interferon-gamma (GO:0034341)|response to lipopolysaccharide (GO:0032496)|response to vitamin D (GO:0033280)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D catabolic process (GO:0042369)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	calcidiol 1-monooxygenase activity (GO:0004498)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|urinary_tract(1)	15	all_cancers(7;8.09e-80)|Lung NSC(6;2.26e-27)|all_lung(6;1.99e-25)|all_epithelial(6;3.62e-18)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		GBM - Glioblastoma multiforme(5;1.97e-113)|all cancers(5;1.54e-78)|BRCA - Breast invasive adenocarcinoma(9;0.0294)		Alfacalcidol(DB01436)|Calcidiol(DB00146)|Corticotropin(DB01285)|Ergocalciferol(DB00153)	CAACAGCGTGGACACAAACAC	0.657											OREG0021953	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000228606.4																			0				central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|urinary_tract(1)	15						c.(691-693)tCc>tTc		cytochrome P450, family 27, subfamily B, polypeptide 1	Calcidiol(DB00146)|Calcitriol(DB00136)|Ergocalciferol(DB00153)						59	53	55					12																	58158892		2203	4300	6503	SO:0001583	missense	1594				bone mineralization|calcium ion homeostasis|calcium ion transport|decidualization|G1 to G0 transition|hormone biosynthetic process|negative regulation of calcidiol 1-monooxygenase activity|negative regulation of cell growth|negative regulation of cell proliferation|positive regulation of keratinocyte differentiation|positive regulation of vitamin D 24-hydroxylase activity|positive regulation of vitamin D receptor signaling pathway|regulation of bone mineralization|response to estrogen stimulus|response to interferon-gamma|response to lipopolysaccharide|response to tumor necrosis factor|response to vitamin D|vitamin D biosynthetic process|xenobiotic metabolic process	mitochondrial outer membrane	calcidiol 1-monooxygenase activity|electron carrier activity|heme binding	g.chr12:58158892G>A	AB006987	CCDS8954.1	12q14.1	2013-11-13	2003-01-14		ENSG00000111012	ENSG00000111012		"Cytochrome P450s"	2606	protein-coding gene	gene with protein product	"VDDR I", "1alpha(OH)ase", "25-Hydroxyvitamin D3 1alpha-hydroxylase"	609506	"cytochrome P450, subfamily XXVIIB (25-hydroxyvitamin D-1-alpha-hydroxylase), polypeptide 1"	VDD1, PDDR		9295274, 9344864	Standard	NM_000785		Approved	CYP1, P450c1	uc001spz.1	O15528	OTTHUMG00000170457	ENST00000228606.4:c.692C>T	12.37:g.58158892G>A	ENSP00000228606:p.Ser231Phe		OREG0021953	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1028	RP11-571M6.13_ENST00000546609.1_RNA	p.S231F	NM_000785.3	NP_000776.1	O15528	CP27B_HUMAN	GBM - Glioblastoma multiforme(5;1.97e-113)|all cancers(5;1.54e-78)|BRCA - Breast invasive adenocarcinoma(9;0.0294)		4	901	-	all_cancers(7;8.09e-80)|Lung NSC(6;2.26e-27)|all_lung(6;1.99e-25)|all_epithelial(6;3.62e-18)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		231					B2RC61|Q548T3	Missense_Mutation	SNP	ENST00000228606.4	37	c.692C>T	CCDS8954.1	.	.	.	.	.	.	.	.	.	.	G	14.96	2.692544	0.48202	.	.	ENSG00000111012	ENST00000228606	T	0.69561	-0.41	5.06	5.06	0.68205	.	0.104845	0.64402	D	0.000007	T	0.62672	0.2447	L	0.56199	1.76	0.41569	D	0.988674	B	0.29552	0.248	B	0.41135	0.348	T	0.55386	-0.8149	10	0.12766	T	0.61	.	7.5089	0.27562	0.1751:0.0:0.8249:0.0	.	231	O15528	CP27B_HUMAN	F	231	ENSP00000228606:S231F	ENSP00000228606:S231F	S	-	2	0	CYP27B1	56445159	1.000000	0.71417	1.000000	0.80357	0.906000	0.53458	5.554000	0.67294	2.625000	0.88918	0.561000	0.74099	TCC		0.657	CYP27B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409248.1	NM_000785		16	19	0	0	0	1	0	16	19					A	58158892	G	A	58158892	3	1	435	1	0	0	0	0	1	0	0	0	4159	1174	41	3	858	3	CYP27B1	12	58158892	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	35451	58158892	75693003	5775	26700											
TSFM	10677	broad.mit.edu	37	chr12	58190056	58190056	+	IGR	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtccacggagcaatgcagaGtccctcacttcacaagctgg	10	8	10	13	1	2	1	2	0	0	1	4	2	4	2	2	2	3	3	2	2	2	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:58190056G>A	ENST00000257861.3	-	0	2891				TSFM_ENST00000323833.8_Missense_Mutation_p.S244N|TSFM_ENST00000350762.5_Missense_Mutation_p.S183N|TSFM_ENST00000454289.3_Missense_Mutation_p.S223N|TSFM_ENST00000548851.1_Intron|TSFM_ENST00000497617.1_3'UTR|TSFM_ENST00000550559.1_Intron|TSFM_ENST00000543727.1_Intron|TSFM_ENST00000540550.1_3'UTR	NM_006576.3	NP_006567.3	O75366	AVIL_HUMAN	advillin						actin filament capping (GO:0051693)|cilium morphogenesis (GO:0060271)|cytoskeleton organization (GO:0007010)|nervous system development (GO:0007399)|positive regulation of neuron projection development (GO:0010976)	actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|neuron projection (GO:0043005)	actin binding (GO:0003779)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(9)|ovary(1)|prostate(6)	32	Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)					GCAATGCAGAGTCCCTCACTT	0.512																																						ENST00000454289.3																			0				endometrium(1)|kidney(1)|large_intestine(5)|prostate(1)	8						c.(667-669)aGt>aAt		Ts translation elongation factor, mitochondrial							52	45	47					12																	58190056		2203	4300	6503	SO:0001628	intergenic_variant	10102				regulation of transcription elongation, DNA-dependent	mitochondrion|nucleus	translation elongation factor activity	g.chr12:58190056G>A	AF041449	CCDS8959.1	12q13.11	2006-03-30				ENSG00000135407			14188	protein-coding gene	gene with protein product		613397				9664034, 12034507	Standard	NM_006576		Approved	p92, FLJ12386, ADVIL, DOC6	uc001sqj.2	O75366	OTTHUMG00000170461		12.37:g.58190056G>A						TSFM_ENST00000548851.1_Intron|TSFM_ENST00000550559.1_Intron|TSFM_ENST00000350762.5_Missense_Mutation_p.S183N|TSFM_ENST00000497617.1_3'UTR|TSFM_ENST00000543727.1_Intron|TSFM_ENST00000540550.1_3'UTR|TSFM_ENST00000323833.8_Missense_Mutation_p.S244N	p.S223N	NM_005726.5	NP_005717.3	P43897	EFTS_HUMAN			6	881	+	all_cancers(7;6.31e-80)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		223					B2RAU7|Q2NKM9	Missense_Mutation	SNP	ENST00000257861.3	37	c.668G>A	CCDS8959.1	.	.	.	.	.	.	.	.	.	.	G	0.633	-0.816254	0.02776	.	.	ENSG00000123297	ENST00000454289;ENST00000323833;ENST00000350762	.	.	.	5.1	4.21	0.49690	Translation elongation factor EFTs/EF1B, dimerisation (2);	0.365064	0.26549	N	0.023750	T	0.17704	0.0425	N	0.16233	0.39	0.09310	N	1	B;B;B	0.27416	0.014;0.009;0.178	B;B;B	0.24155	0.003;0.006;0.051	T	0.15607	-1.0431	9	0.15952	T	0.53	.	5.2946	0.15745	0.163:0.1795:0.6575:0.0	.	183;223;244	F8W6R3;P43897;P43897-2	.;EFTS_HUMAN;.	N	223;244;183	.	ENSP00000313877:S244N	S	+	2	0	TSFM	56476323	0.539000	0.26402	0.288000	0.24862	0.637000	0.38172	2.963000	0.49184	1.373000	0.46208	-0.304000	0.09214	AGT		0.512	AVIL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409276.1	NM_006576		4	11	0	0	0	1	0	4	11					A	58190056	G	A	58190056	1	1	435	0	1	0	0	0	0	0	0	0	16612	1029	36	3		3	TSFM	12	58190056	IGR	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	31164	58190056	75661839	5776	26701											
LRIG3	121227	broad.mit.edu	37	chr12	59282165	59282165	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cagggctgatcctgttgatgGcattttggctgagatgaagt	8	13	14	6	0	0	4	0	4	0	1	1	5	1	4	1	3	0	4	1	3	1	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:59282165G>A	ENST00000320743.3	-	7	1179	c.893C>T	c.(892-894)gCc>gTc	p.A298V	LRIG3_ENST00000379141.4_Missense_Mutation_p.A238V	NM_153377.4	NP_700356.2	Q6UXM1	LRIG3_HUMAN	leucine-rich repeats and immunoglobulin-like domains 3	298					otolith morphogenesis (GO:0032474)	cytoplasmic vesicle (GO:0031410)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)			LRIG3/ROS1(2)	breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(12)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48			GBM - Glioblastoma multiforme(1;1.17e-18)			CCTGTTGATGGCATTTTGGCT	0.483			T	ROS1	NSCLC																																	ENST00000320743.3				Dom	yes		12	12q14.1	121227	T	leucine-rich repeats and immunoglobulin-like domains 3			E	ROS1		NSCLC	LRIG3/ROS1(2)	0				breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(12)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						c.(892-894)gCc>gTc		leucine-rich repeats and immunoglobulin-like domains 3							123	108	113					12																	59282165		2203	4300	6503	SO:0001583	missense	121227					integral to membrane		g.chr12:59282165G>A	AY505340	CCDS8960.1, CCDS44933.1	12q13.2	2013-01-11				ENSG00000139263		"Immunoglobulin superfamily / I-set domain containing"	30991	protein-coding gene	gene with protein product		608870					Standard	NM_153377		Approved	FLJ90440, KIAA3016	uc001sqr.4	Q6UXM1	OTTHUMG00000169940	ENST00000320743.3:c.893C>T	12.37:g.59282165G>A	ENSP00000326759:p.Ala298Val					LRIG3_ENST00000379141.4_Missense_Mutation_p.A238V	p.A298V	NM_153377.4	NP_700356.2	Q6UXM1	LRIG3_HUMAN	GBM - Glioblastoma multiforme(1;1.17e-18)		7	1179	-			298					Q6UXL7|Q8NC72	Missense_Mutation	SNP	ENST00000320743.3	37	c.893C>T	CCDS8960.1	.	.	.	.	.	.	.	.	.	.	G	24.6	4.548335	0.86127	.	.	ENSG00000139263	ENST00000379141;ENST00000320743	T;T	0.24908	1.83;1.83	5.76	4.88	0.63580	.	0.000000	0.36854	N	0.002368	T	0.26738	0.0654	L	0.35414	1.06	0.58432	D	0.999995	B;P	0.44946	0.354;0.846	P;P	0.46389	0.454;0.515	T	0.01711	-1.1290	9	.	.	.	.	15.2392	0.73455	0.0676:0.0:0.9324:0.0	.	238;298	Q6UXM1-2;Q6UXM1	.;LRIG3_HUMAN	V	238;298	ENSP00000368436:A238V;ENSP00000326759:A298V	.	A	-	2	0	LRIG3	57568432	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.976000	0.88070	1.578000	0.49821	0.650000	0.86243	GCC		0.483	LRIG3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406623.1	NM_153377		23	29	0	0	0	1	0	23	29					A	59282165	G	A	59282165	3	1	435	1	0	0	0	0	1	0	0	0	8946	1203	42	3	2518	3	LRIG3	12	59282165	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	1092109	59282165	74569730	5777	26702											
USP15	9958	broad.mit.edu	37	chr12	62749197	62749197	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ctggaagaaacaatgaacagCcaggcctctgtggcctaagt	13	7	11	10	0	1	2	0	1	1	1	1	3	1	3	3	3	3	0	3	3	5	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:62749197C>T	ENST00000280377.5	+	8	914	c.856C>T	c.(856-858)Cca>Tca	p.P286S	USP15_ENST00000393654.3_Missense_Mutation_p.P261S|USP15_ENST00000353364.3_Missense_Mutation_p.P257S	NM_001252078.1	NP_001239007.1	Q9Y4E8	UBP15_HUMAN	ubiquitin specific peptidase 15	286					BMP signaling pathway (GO:0030509)|monoubiquitinated protein deubiquitination (GO:0035520)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|protein deubiquitination (GO:0016579)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|identical protein binding (GO:0042802)|SMAD binding (GO:0046332)|transforming growth factor beta receptor binding (GO:0005160)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(15)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	37			GBM - Glioblastoma multiforme(1;0.000276)	GBM - Glioblastoma multiforme(28;0.0622)		CAATGAACAGCCAGGCCTCTG	0.368																																					Melanoma(181;615 2041 39364 49691 50001)	ENST00000280377.5																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(15)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	37						c.(856-858)Cca>Tca		ubiquitin specific peptidase 15							96	91	93					12																	62749197		2203	4300	6503	SO:0001583	missense	9958				protein deubiquitination|ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr12:62749197C>T	AB011101	CCDS8963.1, CCDS58250.1, CCDS58251.1	12q14	2006-07-18	2005-08-08					"Ubiquitin-specific peptidases"	12613	protein-coding gene	gene with protein product		604731	"ubiquitin specific protease 15"			12838346	Standard	NM_001252078		Approved	KIAA0529, UNPH4	uc001src.2	Q9Y4E8	OTTHUMG00000170186	ENST00000280377.5:c.856C>T	12.37:g.62749197C>T	ENSP00000280377:p.Pro286Ser					USP15_ENST00000353364.3_Missense_Mutation_p.P257S|USP15_ENST00000393654.3_Missense_Mutation_p.P261S	p.P286S	NM_001252078.1	NP_001239007.1	Q9Y4E8	UBP15_HUMAN	GBM - Glioblastoma multiforme(1;0.000276)	GBM - Glioblastoma multiforme(28;0.0622)	8	914	+			286					Q08AL5|Q9H8G9|Q9HCA6|Q9UNP0|Q9Y5B5	Missense_Mutation	SNP	ENST00000280377.5	37	c.856C>T	CCDS58251.1	.	.	.	.	.	.	.	.	.	.	C	17.74	3.463598	0.63513	.	.	ENSG00000135655	ENST00000353364;ENST00000280377;ENST00000393654	T;T;T	0.31769	4.05;4.05;1.48	5.6	5.6	0.85130	.	0.062189	0.64402	D	0.000003	T	0.35885	0.0947	M	0.66939	2.045	0.58432	D	0.999996	P;P	0.36683	0.565;0.56	B;B	0.34242	0.178;0.16	T	0.11991	-1.0565	9	.	.	.	-7.5939	19.6137	0.95619	0.0:1.0:0.0:0.0	.	286;257	Q9Y4E8;Q9Y4E8-2	UBP15_HUMAN;.	S	257;286;261	ENSP00000258123:P257S;ENSP00000280377:P286S;ENSP00000377264:P261S	.	P	+	1	0	USP15	61035464	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.288000	0.51739	2.650000	0.89964	0.557000	0.71058	CCA		0.368	USP15-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000407831.2	NM_006313		8	34	0	0	0	1	0	8	34					T	62749197	C	T	62749197	3	4	435	1	0	0	0	0	1	0	0	0	17043	739	26	3	795	3	USP15	12	62749197	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	3467032	62749197	71102698	5778	26703											
MON2	23041	broad.mit.edu	37	chr12	62887726	62887726	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacagctcagaggttgtacaGccttttttaatgggttgtgg	9	14	12	6	0	1	1	1	0	0	1	1	1	1	1	1	3	4	4	1	3	3	6	rs367768584		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:62887726G>T	ENST00000393632.2	+	3	598	c.207G>T	c.(205-207)caG>caT	p.Q69H	MON2_ENST00000280379.6_Missense_Mutation_p.Q69H|MON2_ENST00000552738.1_Missense_Mutation_p.Q69H|MON2_ENST00000549378.1_Intron|MON2_ENST00000552115.1_Missense_Mutation_p.Q69H|MON2_ENST00000393630.3_Missense_Mutation_p.Q69H|MON2_ENST00000546600.1_Missense_Mutation_p.Q69H|MON2_ENST00000393629.2_Missense_Mutation_p.Q69H	NM_015026.2	NP_055841.2	Q7Z3U7	MON2_HUMAN	MON2 homolog (S. cerevisiae)	69					actin cytoskeleton organization (GO:0030036)|Golgi to endosome transport (GO:0006895)|positive regulation of GTPase activity (GO:0043547)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	extracellular vesicular exosome (GO:0070062)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(15)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	57			BRCA - Breast invasive adenocarcinoma(9;0.218)	GBM - Glioblastoma multiforme(28;0.128)		AGGTTGTACAGCCTTTTTTAA	0.343																																						ENST00000393630.3																			0				NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(15)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	57						c.(205-207)caG>caT		MON2 homolog (S. cerevisiae)							92	79	84					12																	62887726		2203	4300	6503	SO:0001583	missense	23041				Golgi to endosome transport|protein transport	cytoplasm	ARF guanyl-nucleotide exchange factor activity|binding	g.chr12:62887726G>T		CCDS31849.1, CCDS61175.1, CCDS61177.1, CCDS61178.1	12q14.1	2014-08-12	2006-04-04		ENSG00000061987	ENSG00000061987			29177	protein-coding gene	gene with protein product			"MON2 homolog (yeast)"			16301316, 24285343	Standard	NM_015026		Approved	KIAA1040	uc001sre.3	Q7Z3U7	OTTHUMG00000169992	ENST00000393632.2:c.207G>T	12.37:g.62887726G>T	ENSP00000377252:p.Gln69His					MON2_ENST00000280379.6_Missense_Mutation_p.Q69H|MON2_ENST00000552738.1_Missense_Mutation_p.Q69H|MON2_ENST00000552115.1_Missense_Mutation_p.Q69H|MON2_ENST00000393632.2_Missense_Mutation_p.Q69H|MON2_ENST00000549378.1_Intron|MON2_ENST00000546600.1_Missense_Mutation_p.Q69H|MON2_ENST00000393629.2_Missense_Mutation_p.Q69H	p.Q69H	NM_001278470.1|NM_001278472.1	NP_001265399.1|NP_001265401.1	Q7Z3U7	MON2_HUMAN	BRCA - Breast invasive adenocarcinoma(9;0.218)	GBM - Glioblastoma multiforme(28;0.128)	3	598	+			69					A5D8U7|A7E2Y0|B9EGP5|F8VWA6|F8W1Z6|Q86TA2|Q8N3I5|Q8NAI0|Q8NHE2|Q9UPW1	Missense_Mutation	SNP	ENST00000393632.2	37	c.207G>T	CCDS31849.1	.	.	.	.	.	.	.	.	.	.	G	13.77	2.336517	0.41398	.	.	ENSG00000061987	ENST00000393632;ENST00000393630;ENST00000280379;ENST00000546600;ENST00000552738;ENST00000393629;ENST00000552115	T;T;T;T;T;T;T	0.67698	-0.18;-0.28;-0.28;-0.18;-0.18;-0.28;1.38	5.66	2.88	0.33553	.	0.000000	0.85682	D	0.000000	T	0.72763	0.3501	L	0.55743	1.74	0.58432	D	0.999999	D;P;P;P	0.71674	0.998;0.745;0.845;0.923	P;P;P;P	0.62382	0.901;0.458;0.458;0.671	T	0.69258	-0.5192	9	.	.	.	-7.106	10.9225	0.47174	0.2023:0.0:0.7977:0.0	.	69;69;69;69	B9EGP5;F8VWA6;F8W1Z6;Q7Z3U7-4	.;.;.;.	H	69	ENSP00000377252:Q69H;ENSP00000377250:Q69H;ENSP00000280379:Q69H;ENSP00000447407:Q69H;ENSP00000449215:Q69H;ENSP00000377249:Q69H;ENSP00000446635:Q69H	.	Q	+	3	2	MON2	61173993	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.935000	0.48963	0.351000	0.24027	0.591000	0.81541	CAG		0.343	MON2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406767.3	NM_015026		12	12	1	0	1.08611e-07	1	1.14056e-07	12	12					T	62887726	G	T	62887726	3	4	435	1	0	0	0	0	1	0	0	0	9700	962	34	5	217	5	MON2	12	62887726	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	138529	62887726	70964169	5779	26704											
MON2	23041	broad.mit.edu	37	chr12	62960181	62960181	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggatttataccaaaaaacagCgtgtcacaaagcagtggtga	16	8	10	7	1	1	1	1	1	0	0	1	2	1	2	1	2	4	1	1	2	6	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:62960181C>T	ENST00000393632.2	+	29	4665	c.4274C>T	c.(4273-4275)gCg>gTg	p.A1425V	MON2_ENST00000280379.6_Missense_Mutation_p.A1426V|MON2_ENST00000552738.1_Missense_Mutation_p.A1396V|MON2_ENST00000393630.3_Missense_Mutation_p.A1426V|MON2_ENST00000546600.1_Missense_Mutation_p.A1425V|MON2_ENST00000393629.2_Missense_Mutation_p.A1419V	NM_015026.2	NP_055841.2	Q7Z3U7	MON2_HUMAN	MON2 homolog (S. cerevisiae)	1425					actin cytoskeleton organization (GO:0030036)|Golgi to endosome transport (GO:0006895)|positive regulation of GTPase activity (GO:0043547)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	extracellular vesicular exosome (GO:0070062)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(15)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	57			BRCA - Breast invasive adenocarcinoma(9;0.218)	GBM - Glioblastoma multiforme(28;0.128)		CAAAAAACAGCGTGTCACAAA	0.353																																						ENST00000393630.3																			0				NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(15)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	57						c.(4276-4278)gCg>gTg		MON2 homolog (S. cerevisiae)							131	139	137					12																	62960181		2203	4300	6503	SO:0001583	missense	23041				Golgi to endosome transport|protein transport	cytoplasm	ARF guanyl-nucleotide exchange factor activity|binding	g.chr12:62960181C>T		CCDS31849.1, CCDS61175.1, CCDS61177.1, CCDS61178.1	12q14.1	2014-08-12	2006-04-04		ENSG00000061987	ENSG00000061987			29177	protein-coding gene	gene with protein product			"MON2 homolog (yeast)"			16301316, 24285343	Standard	NM_015026		Approved	KIAA1040	uc001sre.3	Q7Z3U7	OTTHUMG00000169992	ENST00000393632.2:c.4274C>T	12.37:g.62960181C>T	ENSP00000377252:p.Ala1425Val					MON2_ENST00000280379.6_Missense_Mutation_p.A1426V|MON2_ENST00000552738.1_Missense_Mutation_p.A1396V|MON2_ENST00000393632.2_Missense_Mutation_p.A1425V|MON2_ENST00000546600.1_Missense_Mutation_p.A1425V|MON2_ENST00000393629.2_Missense_Mutation_p.A1419V	p.A1426V	NM_001278470.1|NM_001278472.1	NP_001265399.1|NP_001265401.1	Q7Z3U7	MON2_HUMAN	BRCA - Breast invasive adenocarcinoma(9;0.218)	GBM - Glioblastoma multiforme(28;0.128)	30	4668	+			1426					A5D8U7|A7E2Y0|B9EGP5|F8VWA6|F8W1Z6|Q86TA2|Q8N3I5|Q8NAI0|Q8NHE2|Q9UPW1	Missense_Mutation	SNP	ENST00000393632.2	37	c.4277C>T	CCDS31849.1	.	.	.	.	.	.	.	.	.	.	C	23.8	4.455839	0.84209	.	.	ENSG00000061987	ENST00000393632;ENST00000393630;ENST00000280379;ENST00000546600;ENST00000552738;ENST00000393629	T;T;T;T;T;T	0.59638	0.26;0.25;0.26;0.26;0.26;0.26	5.05	5.05	0.67936	.	0.122449	0.56097	D	0.000038	T	0.70011	0.3175	L	0.53249	1.67	0.80722	D	1	D;D;D;D;D	0.71674	0.995;0.997;0.974;0.998;0.998	P;P;P;P;D	0.64595	0.847;0.902;0.659;0.868;0.927	T	0.68693	-0.5341	9	.	.	.	-8.6348	16.9447	0.86227	0.0:1.0:0.0:0.0	.	1419;1396;1425;294;1425	B9EGP5;F8VWA6;F8W1Z6;Q7Z3U7-3;Q7Z3U7-4	.;.;.;.;.	V	1425;1426;1426;1425;1396;1419	ENSP00000377252:A1425V;ENSP00000377250:A1426V;ENSP00000280379:A1426V;ENSP00000447407:A1425V;ENSP00000449215:A1396V;ENSP00000377249:A1419V	.	A	+	2	0	MON2	61246448	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.461000	0.80834	2.485000	0.83878	0.655000	0.94253	GCG		0.353	MON2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406767.3	NM_015026		19	57	0	0	0	1	0	19	57					T	62960181	C	T	62960181	3	4	435	1	0	0	0	0	1	0	0	0	9700	768	27	1	4388	1	MON2	12	62960181	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	72455	62960181	70891714	5780	26705											
AVPR1A	552	broad.mit.edu	37	chr12	63544055	63544055	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacctcgatcatggagaagaCgaagtactgcggcgtgctca	11	7	12	11	4	2	2	2	0	0	2	3	5	2	2	1	2	3	2	1	2	3	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:63544055C>T	ENST00000299178.2	-	1	667	c.562G>A	c.(562-564)Gtc>Atc	p.V188I		NM_000706.4	NP_000697.1	P37288	V1AR_HUMAN	arginine vasopressin receptor 1A	188					activation of phospholipase C activity (GO:0007202)|blood circulation (GO:0008015)|calcium-mediated signaling (GO:0019722)|cellular response to water deprivation (GO:0042631)|G-protein coupled receptor signaling pathway (GO:0007186)|generation of precursor metabolites and energy (GO:0006091)|grooming behavior (GO:0007625)|maternal aggressive behavior (GO:0002125)|maternal behavior (GO:0042711)|myotube differentiation (GO:0014902)|negative regulation of female receptivity (GO:0007621)|negative regulation of transmission of nerve impulse (GO:0051970)|penile erection (GO:0043084)|positive regulation of cell growth (GO:0030307)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cellular pH reduction (GO:0032849)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of glutamate secretion (GO:0014049)|positive regulation of heart rate (GO:0010460)|positive regulation of prostaglandin biosynthetic process (GO:0031394)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of systemic arterial blood pressure (GO:0003084)|positive regulation of vasoconstriction (GO:0045907)|regulation of systemic arterial blood pressure by vasopressin (GO:0001992)|response to corticosterone (GO:0051412)|social behavior (GO:0035176)|sperm ejaculation (GO:0042713)|telencephalon development (GO:0021537)	cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	peptide hormone binding (GO:0017046)|protein kinase C binding (GO:0005080)|vasopressin receptor activity (GO:0005000)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(12)|prostate(2)|skin(1)	26			BRCA - Breast invasive adenocarcinoma(9;0.193)	GBM - Glioblastoma multiforme(28;0.0569)	Conivaptan(DB00872)|Desmopressin(DB00035)|Felypressin(DB00093)|Terlipressin(DB02638)|Tolvaptan(DB06212)|Vasopressin(DB00067)	ATGGAGAAGACGAAGTACTGC	0.642																																						ENST00000299178.2																			0				central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(12)|prostate(2)|skin(1)	26						c.(562-564)Gtc>Atc		arginine vasopressin receptor 1A	Conivaptan(DB00872)|Desmopressin(DB00035)|Felypressin(DB00093)|Terlipressin(DB02638)|Vasopressin(DB00067)						56	57	57					12																	63544055		2203	4300	6503	SO:0001583	missense	0				activation of phospholipase C activity|elevation of cytosolic calcium ion concentration|generation of precursor metabolites and energy	endosome|integral to plasma membrane	protein kinase C binding|vasopressin receptor activity	g.chr12:63544055C>T	L25615	CCDS8965.1	12q14-q15	2012-08-08				ENSG00000166148		"GPCR / Class A : Vasopressin and oxytocin receptors"	895	protein-coding gene	gene with protein product		600821		AVPR1		8106369	Standard	NM_000706		Approved		uc001sro.2	P37288		ENST00000299178.2:c.562G>A	12.37:g.63544055C>T	ENSP00000299178:p.Val188Ile						p.V188I	NM_000706.4	NP_000697.1	P37288	V1AR_HUMAN	BRCA - Breast invasive adenocarcinoma(9;0.193)	GBM - Glioblastoma multiforme(28;0.0569)	1	667	-			188						Missense_Mutation	SNP	ENST00000299178.2	37	c.562G>A	CCDS8965.1	.	.	.	.	.	.	.	.	.	.	C	4.947	0.175918	0.09443	.	.	ENSG00000166148	ENST00000299178	T	0.72051	-0.62	5.19	1.36	0.22044	GPCR, rhodopsin-like superfamily (1);	0.158757	0.53938	N	0.000043	T	0.32406	0.0828	N	0.00783	-1.19	0.31968	N	0.607523	B	0.09022	0.002	B	0.06405	0.002	T	0.28427	-1.0044	9	.	.	.	-21.216	7.3175	0.26509	0.0:0.3368:0.0:0.6632	.	188	P37288	V1AR_HUMAN	I	188	ENSP00000299178:V188I	.	V	-	1	0	AVPR1A	61830322	1.000000	0.71417	0.998000	0.56505	0.949000	0.60115	1.735000	0.38176	0.245000	0.21373	0.455000	0.32223	GTC		0.642	AVPR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406734.1			7	69	0	0	0	1	0	7	69					T	63544055	C	T	63544055	3	4	435	1	0	0	0	0	1	0	0	0	1231	536	19	1	702	1	AVPR1A	12	63544055	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	583874	63544055	70307840	5781	26706											
DPY19L2	283417	broad.mit.edu	37	chr12	63964619	63964619	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tgcttgccattgtaggcatgGcacctgcaaagacagcatct	10	10	10	11	0	1	1	0	0	1	1	1	1	1	1	2	2	4	6	2	2	2	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:63964619G>A	ENST00000324472.4	-	20	2102	c.1919C>T	c.(1918-1920)gCc>gTc	p.A640V	DPY19L2_ENST00000413230.2_Missense_Mutation_p.A87V	NM_173812.4	NP_776173.3	Q6NUT2	D19L2_HUMAN	dpy-19-like 2 (C. elegans)	640					multicellular organismal development (GO:0007275)|spermatid development (GO:0007286)	integral component of membrane (GO:0016021)|nuclear inner membrane (GO:0005637)|nucleus (GO:0005634)	transferase activity, transferring glycosyl groups (GO:0016757)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	45			GBM - Glioblastoma multiforme(1;2.77e-05)	GBM - Glioblastoma multiforme(28;0.044)		TGTAGGCATGGCACCTGCAAA	0.368																																						ENST00000324472.4																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						c.(1918-1920)gCc>gTc		dpy-19-like 2 (C. elegans)							83	70	74					12																	63964619		2203	4300	6503	SO:0001583	missense	283417				multicellular organismal development|spermatid development	integral to membrane		g.chr12:63964619G>A		CCDS31851.1	12q14.2	2012-11-14			ENSG00000177990	ENSG00000177990			19414	protein-coding gene	gene with protein product	"spermatogenesis associated 34"	613893				12975309	Standard	XM_006719348		Approved	FLJ32949, SPATA34	uc001srp.1	Q6NUT2	OTTHUMG00000168712	ENST00000324472.4:c.1919C>T	12.37:g.63964619G>A	ENSP00000315988:p.Ala640Val					DPY19L2_ENST00000413230.2_Missense_Mutation_p.A87V	p.A640V	NM_173812.4	NP_776173.3	Q6NUT2	D19L2_HUMAN	GBM - Glioblastoma multiforme(1;2.77e-05)	GBM - Glioblastoma multiforme(28;0.044)	20	2102	-			640					A4FVC1|B4E191|Q3ZCX2|Q6UWG8|Q96LZ9	Missense_Mutation	SNP	ENST00000324472.4	37	c.1919C>T	CCDS31851.1	.	.	.	.	.	.	.	.	.	.	G	9.645	1.140124	0.21205	.	.	ENSG00000177990	ENST00000324472;ENST00000413230	T;T	0.57107	0.42;0.42	3.3	2.39	0.29439	.	0.118616	0.56097	D	0.000028	T	0.57577	0.2063	M	0.81802	2.56	0.43351	D	0.995416	P	0.41848	0.763	P	0.46208	0.507	T	0.56643	-0.7945	9	.	.	.	.	8.3317	0.32191	0.1231:0.0:0.8769:0.0	.	640	Q6NUT2	D19L2_HUMAN	V	640;87	ENSP00000315988:A640V;ENSP00000439794:A87V	.	A	-	2	0	DPY19L2	62250886	1.000000	0.71417	0.997000	0.53966	0.200000	0.23975	6.496000	0.73670	0.569000	0.29329	0.195000	0.17529	GCC		0.368	DPY19L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400689.2	NM_173812		21	36	0	0	0	1	0	21	36					A	63964619	G	A	63964619	3	1	435	1	0	0	0	0	1	0	0	0	4741	1203	42	3	369	3	DPY19L2	12	63964619	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	420564	63964619	69887276	5782	26707											
DPY19L2	283417	broad.mit.edu	37	chr12	64061935	64061935	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tacggacgaactggaaggggCcgagaagaaaggtcttggcc	12	5	16	8	3	1	2	0	0	1	2	1	6	1	4	2	6	2	0	2	6	5	2	rs199548963		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:64061935C>T	ENST00000324472.4	-	1	422	c.239G>A	c.(238-240)gGc>gAc	p.G80D	RP11-415I12.3_ENST00000509615.2_RNA	NM_173812.4	NP_776173.3	Q6NUT2	D19L2_HUMAN	dpy-19-like 2 (C. elegans)	80					multicellular organismal development (GO:0007275)|spermatid development (GO:0007286)	integral component of membrane (GO:0016021)|nuclear inner membrane (GO:0005637)|nucleus (GO:0005634)	transferase activity, transferring glycosyl groups (GO:0016757)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	45			GBM - Glioblastoma multiforme(1;2.77e-05)	GBM - Glioblastoma multiforme(28;0.044)		CTGGAAGGGGCCGAGAAGAAA	0.612													C|||	1	0.000199681	0	0.0014	5008	,	,		16821	0		0	False		,,,				2504	0					ENST00000324472.4																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						c.(238-240)gGc>gAc		dpy-19-like 2 (C. elegans)							73	80	77					12																	64061935		2203	4300	6503	SO:0001583	missense	283417				multicellular organismal development|spermatid development	integral to membrane		g.chr12:64061935C>T		CCDS31851.1	12q14.2	2012-11-14			ENSG00000177990	ENSG00000177990			19414	protein-coding gene	gene with protein product	"spermatogenesis associated 34"	613893				12975309	Standard	XM_006719348		Approved	FLJ32949, SPATA34	uc001srp.1	Q6NUT2	OTTHUMG00000168712	ENST00000324472.4:c.239G>A	12.37:g.64061935C>T	ENSP00000315988:p.Gly80Asp					RP11-415I12.3_ENST00000509615.2_RNA	p.G80D	NM_173812.4	NP_776173.3	Q6NUT2	D19L2_HUMAN	GBM - Glioblastoma multiforme(1;2.77e-05)	GBM - Glioblastoma multiforme(28;0.044)	1	422	-			80					A4FVC1|B4E191|Q3ZCX2|Q6UWG8|Q96LZ9	Missense_Mutation	SNP	ENST00000324472.4	37	c.239G>A	CCDS31851.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	4.152	0.026689	0.08054	.	.	ENSG00000177990	ENST00000324472;ENST00000542209	T;T	0.37235	1.21;1.96	1.75	-1.51	0.08664	.	.	.	.	.	T	0.18425	0.0442	N	0.19112	0.55	0.19945	N	0.999948	B	0.09022	0.002	B	0.04013	0.001	T	0.25398	-1.0133	8	.	.	.	.	5.1678	0.15094	0.0:0.3702:0.0:0.6298	.	80	Q6NUT2	D19L2_HUMAN	D	80	ENSP00000315988:G80D;ENSP00000444932:G80D	.	G	-	2	0	DPY19L2	62348202	0.380000	0.25131	0.037000	0.18230	0.161000	0.22273	0.053000	0.14184	-0.503000	0.06586	0.195000	0.17529	GGC		0.612	DPY19L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400689.2	NM_173812		23	49	0	0	0	1	0	23	49					T	64061935	C	T	64061935	3	4	435	1	0	0	0	0	1	0	0	0	4741	739	26	3	2125	3	DPY19L2	12	64061935	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	97316	64061935	69789960	5783	26708											
IRAK3	11213	broad.mit.edu	37	chr12	66620608	66620608	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggaacactttttgacagattGcagtgtgtagtaagttctat	11	15	10	5	0	1	2	0	1	1	1	1	3	1	3	0	1	2	4	0	1	4	7			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:66620608G>A	ENST00000261233.4	+	7	1180	c.759G>A	c.(757-759)ttG>ttA	p.L253L	IRAK3_ENST00000457197.2_Silent_p.L192L	NM_007199.2	NP_009130.2			interleukin-1 receptor-associated kinase 3											breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(28;0.0203)		TTGACAGATTGCAGTGTGTAG	0.428																																						ENST00000261233.4																			0				breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	36						c.(757-759)ttG>ttA		interleukin-1 receptor-associated kinase 3							163	145	152					12																	66620608		2203	4300	6503	SO:0001819	synonymous_variant	0				interleukin-1-mediated signaling pathway|MyD88-dependent toll-like receptor signaling pathway|negative regulation of innate immune response|negative regulation of interleukin-12 production|negative regulation of interleukin-6 production|negative regulation of macrophage cytokine production|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein catabolic process|negative regulation of protein complex disassembly|negative regulation of toll-like receptor signaling pathway|negative regulation of tumor necrosis factor production|positive regulation of macrophage tolerance induction|positive regulation of NF-kappaB transcription factor activity|response to exogenous dsRNA|response to lipopolysaccharide|response to peptidoglycan	cytoplasm|nucleus	ATP binding|magnesium ion binding|protein heterodimerization activity|protein homodimerization activity|protein serine/threonine kinase activity	g.chr12:66620608G>A	AF113136	CCDS8975.1, CCDS44937.1	12q13.13	2008-05-02			ENSG00000090376	ENSG00000090376			17020	protein-coding gene	gene with protein product		604459				10383454	Standard	NM_001142523		Approved	IRAK-M	uc001sth.3	Q9Y616	OTTHUMG00000169002	ENST00000261233.4:c.759G>A	12.37:g.66620608G>A						IRAK3_ENST00000457197.2_Silent_p.L192L	p.L253L	NM_007199.2	NP_009130.2	Q9Y616	IRAK3_HUMAN		GBM - Glioblastoma multiforme(28;0.0203)	7	1180	+			253			Protein kinase.			Silent	SNP	ENST00000261233.4	37	c.759G>A	CCDS8975.1																																																																																				0.428	IRAK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401908.1			10	23	0	0	0	1	0	10	23					A	66620608	G	A	66620608	2	1	435	1	0	0	0	0	0	0	0	1	7824	1310	46	3		3	IRAK3	12	66620608	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	2558673	66620608	67231287	5784	26709											
IRAK3	11213	broad.mit.edu	37	chr12	66638758	66638758	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aagttctaacaggatgtagaGtagtgttagatgatccaaaa	16	11	10	4	0	1	3	0	1	1	2	2	4	2	4	1	1	1	4	1	1	7	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:66638758G>A	ENST00000261233.4	+	10	1538	c.1117G>A	c.(1117-1119)Gta>Ata	p.V373I	IRAK3_ENST00000457197.2_Missense_Mutation_p.V312I	NM_007199.2	NP_009130.2			interleukin-1 receptor-associated kinase 3											breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(28;0.0203)		AGGATGTAGAGTAGTGTTAGA	0.318																																						ENST00000261233.4																			0				breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	36						c.(1117-1119)Gta>Ata		interleukin-1 receptor-associated kinase 3							88	85	86					12																	66638758		2203	4300	6503	SO:0001583	missense	0				interleukin-1-mediated signaling pathway|MyD88-dependent toll-like receptor signaling pathway|negative regulation of innate immune response|negative regulation of interleukin-12 production|negative regulation of interleukin-6 production|negative regulation of macrophage cytokine production|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein catabolic process|negative regulation of protein complex disassembly|negative regulation of toll-like receptor signaling pathway|negative regulation of tumor necrosis factor production|positive regulation of macrophage tolerance induction|positive regulation of NF-kappaB transcription factor activity|response to exogenous dsRNA|response to lipopolysaccharide|response to peptidoglycan	cytoplasm|nucleus	ATP binding|magnesium ion binding|protein heterodimerization activity|protein homodimerization activity|protein serine/threonine kinase activity	g.chr12:66638758G>A	AF113136	CCDS8975.1, CCDS44937.1	12q13.13	2008-05-02			ENSG00000090376	ENSG00000090376			17020	protein-coding gene	gene with protein product		604459				10383454	Standard	NM_001142523		Approved	IRAK-M	uc001sth.3	Q9Y616	OTTHUMG00000169002	ENST00000261233.4:c.1117G>A	12.37:g.66638758G>A	ENSP00000261233:p.Val373Ile					IRAK3_ENST00000457197.2_Missense_Mutation_p.V312I	p.V373I	NM_007199.2	NP_009130.2	Q9Y616	IRAK3_HUMAN		GBM - Glioblastoma multiforme(28;0.0203)	10	1538	+			373			Protein kinase.			Missense_Mutation	SNP	ENST00000261233.4	37	c.1117G>A	CCDS8975.1	.	.	.	.	.	.	.	.	.	.	G	17.25	3.341232	0.60963	.	.	ENSG00000090376	ENST00000261233;ENST00000457197	T;T	0.34072	1.38;1.38	6.03	6.03	0.97812	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	D	0.000001	T	0.53530	0.1802	L	0.45581	1.43	0.47778	D	0.999514	D;D	0.89917	1.0;0.999	D;D	0.85130	0.996;0.997	T	0.39542	-0.9609	9	.	.	.	-23.7527	16.0569	0.80812	0.0:0.0:1.0:0.0	.	312;373	Q9Y616-2;Q9Y616	.;IRAK3_HUMAN	I	373;312	ENSP00000261233:V373I;ENSP00000409852:V312I	.	V	+	1	0	IRAK3	64925025	1.000000	0.71417	1.000000	0.80357	0.055000	0.15305	4.865000	0.62998	2.861000	0.98227	0.655000	0.94253	GTA		0.318	IRAK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401908.1			34	45	0	0	0	1	0	34	45					A	66638758	G	A	66638758	3	1	435	1	0	0	0	0	1	0	0	0	7824	1029	36	3	1155	3	IRAK3	12	66638758	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	18150	66638758	67213137	5785	26710											
HELB	92797	broad.mit.edu	37	chr12	66712428	66712428	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttattcaagaatctcaagaCgccaatttccaaaatttgat	15	14	4	8	1	2	3	2	1	1	2	4	3	3	3	2	0	0	0	2	0	7	5	rs143522796	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:66712428C>T	ENST00000247815.4	+	7	2070	c.2011C>T	c.(2011-2013)Cgc>Tgc	p.R671C		NM_033647.3	NP_387467.2	Q8NG08	HELB_HUMAN	helicase (DNA) B	671					DNA duplex unwinding (GO:0032508)|DNA replication (GO:0006260)|DNA replication, synthesis of RNA primer (GO:0006269)		ATP binding (GO:0005524)|ATP-dependent 5'-3' DNA helicase activity (GO:0043141)|single-stranded DNA-dependent ATP-dependent DNA helicase activity (GO:0017116)	p.R671C(2)		autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	40			GBM - Glioblastoma multiforme(2;0.000142)	GBM - Glioblastoma multiforme(28;0.0265)		AATCTCAAGACGCCAATTTCC	0.313													C|||	6	0.00119808	0.003	0	5008	,	,		16420	0.002		0	False		,,,				2504	0					ENST00000247815.4																			2	Substitution - Missense(2)	p.R671C(2)	large_intestine(1)|pancreas(1)	autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	40						c.(2011-2013)Cgc>Tgc		helicase (DNA) B		C	CYS/ARG	16,4390	22.3+/-47.3	0,16,2187	99	103	102		2011	4.4	1	12	dbSNP_134	102	2,8598	2.2+/-6.3	0,2,4298	yes	missense	HELB	NM_033647.2	180	0,18,6485	TT,TC,CC		0.0233,0.3631,0.1384	probably-damaging	671/1088	66712428	18,12988	2203	4300	6503	SO:0001583	missense	92797				DNA replication, synthesis of RNA primer		ATP binding|ATP-dependent 5'-3' DNA helicase activity|single-stranded DNA-dependent ATP-dependent DNA helicase activity	g.chr12:66712428C>T	AF319995	CCDS8976.1	12q14.2	2009-01-15			ENSG00000127311	ENSG00000127311			17196	protein-coding gene	gene with protein product		614539				12181327	Standard	NM_033647		Approved		uc001sti.3	Q8NG08	OTTHUMG00000169006	ENST00000247815.4:c.2011C>T	12.37:g.66712428C>T	ENSP00000247815:p.Arg671Cys						p.R671C	NM_033647.3	NP_387467.2	Q8NG08	HELB_HUMAN	GBM - Glioblastoma multiforme(2;0.000142)	GBM - Glioblastoma multiforme(28;0.0265)	7	2070	+			671					A8K4C9|Q4G0T2|Q9H7L5	Missense_Mutation	SNP	ENST00000247815.4	37	c.2011C>T	CCDS8976.1	2	9.157509157509158E-4	1	0.0020325203252032522	0	0.0	1	0.0017482517482517483	0	0.0	C	10.68	1.417678	0.25552	0.003631	2.33E-4	ENSG00000127311	ENST00000247815	T	0.45276	0.9	5.26	4.36	0.52297	.	0.170193	0.39475	N	0.001342	T	0.37598	0.1009	L	0.59436	1.845	0.45899	D	0.99874	B	0.34255	0.445	B	0.28465	0.09	T	0.19976	-1.0289	9	.	.	.	-8.2078	14.5379	0.67973	0.0:0.9286:0.0:0.0714	.	671	Q8NG08	HELB_HUMAN	C	671	ENSP00000247815:R671C	.	R	+	1	0	HELB	64998695	0.780000	0.28664	0.967000	0.41034	0.195000	0.23768	3.328000	0.52052	1.355000	0.45865	0.655000	0.94253	CGC		0.313	HELB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401919.1			19	32	0	0	0	1	0	19	32					T	66712428	C	T	66712428	3	4	435	1	0	0	0	0	1	0	0	0	7045	536	19	1	2037	1	HELB	12	66712428	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	73670	66712428	67139467	5786	26711											
HELB	92797	broad.mit.edu	37	chr12	66717800	66717800	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttgtttttggaattggtgatAaaatttgttgtaccaggaat	11	18	10	2	0	0	1	0	1	0	0	0	3	0	3	1	3	1	3	1	3	5	8			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:66717800A>G	ENST00000247815.4	+	10	2394	c.2335A>G	c.(2335-2337)Aaa>Gaa	p.K779E		NM_033647.3	NP_387467.2	Q8NG08	HELB_HUMAN	helicase (DNA) B	779					DNA duplex unwinding (GO:0032508)|DNA replication (GO:0006260)|DNA replication, synthesis of RNA primer (GO:0006269)		ATP binding (GO:0005524)|ATP-dependent 5'-3' DNA helicase activity (GO:0043141)|single-stranded DNA-dependent ATP-dependent DNA helicase activity (GO:0017116)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	40			GBM - Glioblastoma multiforme(2;0.000142)	GBM - Glioblastoma multiforme(28;0.0265)		AATTGGTGATAAAATTTGTTG	0.353																																						ENST00000247815.4																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	40						c.(2335-2337)Aaa>Gaa		helicase (DNA) B							140	155	150					12																	66717800		2203	4300	6503	SO:0001583	missense	92797				DNA replication, synthesis of RNA primer		ATP binding|ATP-dependent 5'-3' DNA helicase activity|single-stranded DNA-dependent ATP-dependent DNA helicase activity	g.chr12:66717800A>G	AF319995	CCDS8976.1	12q14.2	2009-01-15			ENSG00000127311	ENSG00000127311			17196	protein-coding gene	gene with protein product		614539				12181327	Standard	NM_033647		Approved		uc001sti.3	Q8NG08	OTTHUMG00000169006	ENST00000247815.4:c.2335A>G	12.37:g.66717800A>G	ENSP00000247815:p.Lys779Glu						p.K779E	NM_033647.3	NP_387467.2	Q8NG08	HELB_HUMAN	GBM - Glioblastoma multiforme(2;0.000142)	GBM - Glioblastoma multiforme(28;0.0265)	10	2394	+			779					A8K4C9|Q4G0T2|Q9H7L5	Missense_Mutation	SNP	ENST00000247815.4	37	c.2335A>G	CCDS8976.1	.	.	.	.	.	.	.	.	.	.	A	18.18	3.567016	0.65651	.	.	ENSG00000127311	ENST00000247815	T	0.31769	1.48	5.2	5.2	0.72013	.	0.000000	0.85682	D	0.000000	T	0.67505	0.2900	H	0.95079	3.62	0.44289	D	0.997153	D	0.89917	1.0	D	0.91635	0.999	T	0.78745	-0.2084	9	.	.	.	-34.5693	15.0446	0.71816	1.0:0.0:0.0:0.0	.	779	Q8NG08	HELB_HUMAN	E	779	ENSP00000247815:K779E	.	K	+	1	0	HELB	65004067	1.000000	0.71417	1.000000	0.80357	0.383000	0.30230	6.724000	0.74747	2.075000	0.62263	0.533000	0.62120	AAA		0.353	HELB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401919.1			24	52	0	0	0	1	0	24	52					G	66717800	A	G	66717800	3	3	435	1	0	0	0	0	1	0	0	0	7045	363	13	4	2373	4	HELB	12	66717800	Missense_Mutation	SNP	A	TCGA-XK-AAIW-01A-11D-A41K-08	5372	66717800	67134095	5787	26712											
GRIP1	23426	broad.mit.edu	37	chr12	66849299	66849299	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgttcagggaactcaggctgTatgcactcatggaggtagga	10	10	14	7	0	3	0	3	0	0	0	3	3	3	3	0	5	2	5	0	5	3	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:66849299T>C	ENST00000398016.3	-	10	1156	c.1088A>G	c.(1087-1089)tAc>tGc	p.Y363C	GRIP1_ENST00000286445.7_Missense_Mutation_p.Y415C|GRIP1_ENST00000359742.4_Missense_Mutation_p.Y415C	NM_021150.3	NP_066973.2	Q96DT0	LEG12_HUMAN	glutamate receptor interacting protein 1	0					intrinsic apoptotic signaling pathway (GO:0097193)	nucleus (GO:0005634)	lactose binding (GO:0030395)			NS(3)|breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(19)|ovary(2)|prostate(2)|skin(1)	50			GBM - Glioblastoma multiforme(2;0.00069)	GBM - Glioblastoma multiforme(28;0.0933)		ACTCAGGCTGTATGCACTCAT	0.532																																						ENST00000359742.4																			0				NS(3)|breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(19)|ovary(2)|prostate(2)|skin(1)	50						c.(1243-1245)tAc>tGc		glutamate receptor interacting protein 1							131	133	132					12																	66849299		2055	4198	6253	SO:0001583	missense	23426				androgen receptor signaling pathway|intracellular signal transduction|positive regulation of transcription, DNA-dependent|synaptic transmission	cell junction|cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|postsynaptic membrane	androgen receptor binding|beta-catenin binding|protein C-terminus binding|receptor signaling complex scaffold activity|transcription coactivator activity	g.chr12:66849299T>C	AJ133439	CCDS41807.1	12q13.13	2008-05-02			ENSG00000155974	ENSG00000155974			18708	protein-coding gene	gene with protein product		604597				10197531	Standard	NM_021150		Approved		uc001stk.3	Q9Y3R0	OTTHUMG00000169019	ENST00000398016.3:c.1088A>G	12.37:g.66849299T>C	ENSP00000381098:p.Tyr363Cys					GRIP1_ENST00000398016.3_Missense_Mutation_p.Y363C|GRIP1_ENST00000286445.7_Missense_Mutation_p.Y415C	p.Y415C			Q9Y3R0	GRIP1_HUMAN	GBM - Glioblastoma multiforme(2;0.00069)	GBM - Glioblastoma multiforme(28;0.0933)	11	1484	-			415					B2R9N2|G5E970|Q96DS9|Q96PR9|Q9H258|Q9H259|Q9NZ02	Missense_Mutation	SNP	ENST00000398016.3	37	c.1244A>G	CCDS41807.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	T|T|T	17.07|17.07|17.07	3.294046|3.294046|3.294046	0.60086|0.60086|0.60086	.|.|.	.|.|.	ENSG00000155974|ENSG00000155974|ENSG00000155974	ENST00000543172|ENST00000538164|ENST00000398016;ENST00000359742;ENST00000286445;ENST00000538211;ENST00000540433	.|.|T;T;T;T;T	.|.|0.20069	.|.|2.1;2.16;2.16;2.11;2.17	5.29|5.29|5.29	5.29|5.29|5.29	0.74685|0.74685|0.74685	.|.|.	.|.|0.000000	.|.|0.85682	.|.|D	.|.|0.000000	T|T|T	0.34600|0.34600|0.34600	0.0903|0.0903|0.0903	L|L|L	0.51422|0.51422|0.51422	1.61|1.61|1.61	0.48511|0.48511|0.48511	D|D|D	0.999663|0.999663|0.999663	.|.|D;D;D	.|.|0.65815	.|.|0.995;0.967;0.995	.|.|P;P;P	.|.|0.60789	.|.|0.879;0.818;0.846	T|T|T	0.02805|0.02805|0.02805	-1.1108|-1.1108|-1.1108	5|5|9	.|.|.	.|.|.	.|.|.	-14.8423|-14.8423|-14.8423	11.5331|11.5331|11.5331	0.50622|0.50622|0.50622	0.0:0.0:0.1495:0.8505|0.0:0.0:0.1495:0.8505|0.0:0.0:0.1495:0.8505	.|.|.	.|.|363;363;415	.|.|F5H4N6;Q9Y3R0-3;Q9Y3R0-2	.|.|.;.;.	M|A|C	182|230|363;415;415;363;307	.|.|ENSP00000381098:Y363C;ENSP00000352780:Y415C;ENSP00000286445:Y415C;ENSP00000446047:Y363C;ENSP00000446024:Y307C	.|.|.	I|T|Y	-|-|-	3|1|2	3|0|0	GRIP1|GRIP1|GRIP1	65135566|65135566|65135566	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.979000|0.979000|0.979000	0.70002|0.70002|0.70002	6.248000|6.248000|6.248000	0.72418|0.72418|0.72418	2.141000|2.141000|2.141000	0.66446|0.66446|0.66446	0.459000|0.459000|0.459000	0.35465|0.35465|0.35465	ATA|ACA|TAC		0.532	GRIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401975.2			22	34	0	0	0	1	0	22	34					C	66849299	T	C	66849299	3	2	435	1	0	0	0	0	1	0	0	0	6787	1638	57	4	2202	4	GRIP1	12	66849299	Missense_Mutation	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	131499	66849299	67002596	5788	26713											
RAP1B	5908	broad.mit.edu	37	chr12	69044218	69044218	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggaatttttgtagaaaaataCgatcctacgatagaagattc	16	12	8	5	2	0	3	0	0	0	3	2	6	1	4	1	1	2	1	1	1	8	7	rs144054951		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:69044218C>T	ENST00000250559.9	+	3	327	c.96C>T	c.(94-96)taC>taT	p.Y32Y	RAP1B_ENST00000378985.3_Intron|RAP1B_ENST00000450214.2_Intron|RAP1B_ENST00000540209.1_Silent_p.Y32Y|RAP1B_ENST00000393436.5_Silent_p.Y32Y|RAP1B_ENST00000537460.1_Silent_p.Y32Y|RAP1B_ENST00000543697.1_Silent_p.Y32Y|RAP1B_ENST00000463493.1_Intron|RAP1B_ENST00000543393.1_Intron|RAP1B_ENST00000542145.1_Silent_p.Y32Y|RAP1B_ENST00000341355.5_Silent_p.Y32Y|RAP1B_ENST00000539091.1_Intron|RAP1B_ENST00000541216.1_Silent_p.Y32Y	NM_001010942.2|NM_001251921.1|NM_001251922.1|NM_015646.5	NP_001010942.1|NP_001238850.1|NP_001238851.1|NP_056461.1	P61224	RAP1B_HUMAN	RAP1B, member of RAS oncogene family	32	Interaction with KRIT1.				blood coagulation (GO:0007596)|cell proliferation (GO:0008283)|cellular response to cAMP (GO:0071320)|energy reserve metabolic process (GO:0006112)|establishment of endothelial barrier (GO:0061028)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|platelet activation (GO:0030168)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|Rap protein signal transduction (GO:0032486)|regulation of cell junction assembly (GO:1901888)|regulation of establishment of cell polarity (GO:2000114)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|lipid particle (GO:0005811)|membrane (GO:0016020)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|protein complex binding (GO:0032403)			breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(2)|urinary_tract(2)	12	Breast(13;1.24e-05)		Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00694)	GBM - Glioblastoma multiforme(7;0.000306)		TAGAAAAATACGATCCTACGA	0.239																																						ENST00000250559.9																			0				breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(2)|urinary_tract(2)	12						c.(94-96)taC>taT		RAP1B, member of RAS oncogene family		T	,	1,4347		0,1,2173	23	27	26		96,96	1.7	1	12	dbSNP_134	26	0,8532		0,0,4266	no	coding-synonymous,coding-synonymous	RAP1B	NM_001010942.1,NM_015646.4	,	0,1,6439	TT,TC,CC		0.0,0.023,0.0078	,	32/185,32/185	69044218	1,12879	2174	4266	6440	SO:0001819	synonymous_variant	5908				blood coagulation|energy reserve metabolic process|regulation of establishment of cell polarity|regulation of insulin secretion	cell-cell junction|cytosol	GDP binding|GTP binding|GTPase activity|protein binding	g.chr12:69044218C>T		CCDS8984.1, CCDS58252.1, CCDS58253.1, CCDS58254.1	12q14	2014-05-09			ENSG00000127314	ENSG00000127314			9857	protein-coding gene	gene with protein product		179530				3137530, 12089143	Standard	NM_015646		Approved	K-REV, RAL1B, DKFZp586H0723	uc001suc.3	P61224	OTTHUMG00000133660	ENST00000250559.9:c.96C>T	12.37:g.69044218C>T						RAP1B_ENST00000543697.1_Silent_p.Y32Y|RAP1B_ENST00000541216.1_Silent_p.Y32Y|RAP1B_ENST00000543393.1_Intron|RAP1B_ENST00000539091.1_Intron|RAP1B_ENST00000450214.2_Intron|RAP1B_ENST00000393436.5_Silent_p.Y32Y|RAP1B_ENST00000537460.1_Silent_p.Y32Y|RAP1B_ENST00000378985.3_Intron|RAP1B_ENST00000463493.1_Intron|RAP1B_ENST00000542145.1_Silent_p.Y32Y|RAP1B_ENST00000540209.1_Silent_p.Y32Y|RAP1B_ENST00000341355.5_Silent_p.Y32Y	p.Y32Y	NM_001010942.2|NM_001251921.1|NM_001251922.1|NM_015646.5	NP_001010942.1|NP_001238850.1|NP_001238851.1|NP_056461.1	P61224	RAP1B_HUMAN	Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00694)	GBM - Glioblastoma multiforme(7;0.000306)	3	327	+	Breast(13;1.24e-05)		32					B2R5Z2|B4DQI8|B4DW74|B4DW94|P09526|Q502X3|Q5TZR4|Q6DCA1|Q6LES0	Silent	SNP	ENST00000250559.9	37	c.96C>T	CCDS8984.1																																																																																				0.239	RAP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257821.3	NM_001010942		18	31	0	0	0	1	0	18	31					T	69044218	C	T	69044218	2	4	435	1	0	0	0	0	0	0	0	1	13036	547	19	1		1	RAP1B	12	69044218	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	2194919	69044218	64807677	5789	26714											
NUP107	57122	broad.mit.edu	37	chr12	69094603	69094603	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcttcttcaacaggagatggTcacatggaggctgctggctt	8	11	13	9	0	3	1	2	0	1	1	3	3	3	2	0	5	2	4	0	5	1	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:69094603T>C	ENST00000229179.4	+	7	982	c.650T>C	c.(649-651)gTc>gCc	p.V217A	NUP107_ENST00000539906.1_Missense_Mutation_p.V188A|NUP107_ENST00000378905.2_Missense_Mutation_p.V66A	NM_020401.2	NP_065134.1	P57740	NU107_HUMAN	nucleoporin 107kDa	217					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA export from nucleus (GO:0006406)|nuclear pore complex assembly (GO:0051292)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	centrosome (GO:0005813)|cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)|nuclear pore outer ring (GO:0031080)|nucleus (GO:0005634)	nucleocytoplasmic transporter activity (GO:0005487)|structural constituent of nuclear pore (GO:0017056)		NUP107/LGR5(2)	breast(3)|endometrium(4)|kidney(4)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(2)	39	Breast(13;6.25e-06)		Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00694)			CAGGAGATGGTCACATGGAGG	0.373																																						ENST00000229179.4																		NUP107/LGR5(2)	0				breast(3)|endometrium(4)|kidney(4)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(2)	39						c.(649-651)gTc>gCc		nucleoporin 107kDa							89	90	90					12																	69094603		2203	4300	6503	SO:0001583	missense	57122				carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex	nucleocytoplasmic transporter activity|protein binding	g.chr12:69094603T>C	AK055629	CCDS8985.1	12q14	2004-03-19			ENSG00000111581	ENSG00000111581			29914	protein-coding gene	gene with protein product		607617				12552102, 12705868	Standard	XM_005269037		Approved	NUP84	uc001suf.3	P57740	OTTHUMG00000169265	ENST00000229179.4:c.650T>C	12.37:g.69094603T>C	ENSP00000229179:p.Val217Ala					NUP107_ENST00000539906.1_Missense_Mutation_p.V188A|NUP107_ENST00000378905.2_Missense_Mutation_p.V66A	p.V217A	NM_020401.2	NP_065134.1	P57740	NU107_HUMAN	Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00694)		7	982	+	Breast(13;6.25e-06)		217					B4DZ67|Q6PJE1	Missense_Mutation	SNP	ENST00000229179.4	37	c.650T>C	CCDS8985.1	.	.	.	.	.	.	.	.	.	.	T	14.72	2.619845	0.46736	.	.	ENSG00000111581	ENST00000229179;ENST00000378905;ENST00000539906	.	.	.	5.25	5.25	0.73442	.	0.239550	0.40908	D	0.000982	T	0.47600	0.1454	L	0.39898	1.24	0.51482	D	0.999928	B;B;B	0.33448	0.412;0.035;0.412	B;B;B	0.30316	0.114;0.05;0.114	T	0.43196	-0.9406	8	.	.	.	-12.883	15.1368	0.72572	0.0:0.0:0.0:1.0	.	188;66;217	B4DZ67;Q6PJE1;P57740	.;.;NU107_HUMAN	A	217;66;188	.	.	V	+	2	0	NUP107	67380870	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.824000	0.55723	2.134000	0.65973	0.459000	0.35465	GTC		0.373	NUP107-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403195.1	NM_020401		33	45	0	0	0	1	0	33	45					C	69094603	T	C	69094603	3	2	435	1	0	0	0	0	1	0	0	0	10753	1667	58	4	676	4	NUP107	12	69094603	Missense_Mutation	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	50385	69094603	64757292	5790	26715											
NUP107	57122	broad.mit.edu	37	chr12	69107518	69107518	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tatttctttcagggaaaataCtctgcataccttaaaacaac	15	13	4	9	0	3	0	1	0	2	0	3	1	3	1	1	1	5	1	1	1	8	6			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:69107518C>A	ENST00000229179.4	+	11	1231	c.899C>A	c.(898-900)aCt>aAt	p.T300N	NUP107_ENST00000539906.1_Missense_Mutation_p.T271N|NUP107_ENST00000378905.2_Missense_Mutation_p.T149N	NM_020401.2	NP_065134.1	P57740	NU107_HUMAN	nucleoporin 107kDa	300					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA export from nucleus (GO:0006406)|nuclear pore complex assembly (GO:0051292)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	centrosome (GO:0005813)|cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)|nuclear pore outer ring (GO:0031080)|nucleus (GO:0005634)	nucleocytoplasmic transporter activity (GO:0005487)|structural constituent of nuclear pore (GO:0017056)		NUP107/LGR5(2)	breast(3)|endometrium(4)|kidney(4)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(2)	39	Breast(13;6.25e-06)		Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00694)			AGGGAAAATACTCTGCATACC	0.328																																						ENST00000229179.4																		NUP107/LGR5(2)	0				breast(3)|endometrium(4)|kidney(4)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(2)	39						c.(898-900)aCt>aAt		nucleoporin 107kDa							80	83	82					12																	69107518		2203	4300	6503	SO:0001583	missense	57122				carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex	nucleocytoplasmic transporter activity|protein binding	g.chr12:69107518C>A	AK055629	CCDS8985.1	12q14	2004-03-19			ENSG00000111581	ENSG00000111581			29914	protein-coding gene	gene with protein product		607617				12552102, 12705868	Standard	XM_005269037		Approved	NUP84	uc001suf.3	P57740	OTTHUMG00000169265	ENST00000229179.4:c.899C>A	12.37:g.69107518C>A	ENSP00000229179:p.Thr300Asn					NUP107_ENST00000539906.1_Missense_Mutation_p.T271N|NUP107_ENST00000378905.2_Missense_Mutation_p.T149N	p.T300N	NM_020401.2	NP_065134.1	P57740	NU107_HUMAN	Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00694)		11	1231	+	Breast(13;6.25e-06)		300					B4DZ67|Q6PJE1	Missense_Mutation	SNP	ENST00000229179.4	37	c.899C>A	CCDS8985.1	.	.	.	.	.	.	.	.	.	.	C	19.71	3.878391	0.72294	.	.	ENSG00000111581	ENST00000229179;ENST00000378905;ENST00000539906	.	.	.	4.9	4.9	0.64082	.	0.000000	0.85682	D	0.000000	D	0.84275	0.5436	M	0.87269	2.87	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;1.0	D	0.86522	0.1816	8	.	.	.	-17.1062	18.0387	0.89313	0.0:1.0:0.0:0.0	.	271;149;300	B4DZ67;Q6PJE1;P57740	.;.;NU107_HUMAN	N	300;149;271	.	.	T	+	2	0	NUP107	67393785	1.000000	0.71417	1.000000	0.80357	0.737000	0.42083	5.335000	0.65929	2.434000	0.82447	0.455000	0.32223	ACT		0.328	NUP107-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403195.1	NM_020401		23	51	1	0	3.28513e-13	1	3.56457e-13	23	51					A	69107518	C	A	69107518	3	1	435	1	0	0	0	0	1	0	0	0	10753	565	20	5	941	5	NUP107	12	69107518	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	12915	69107518	64744377	5791	26716											
CPSF6	11052	broad.mit.edu	37	chr12	69653276	69653276	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatcatgaatagaaatagggCaatctcaagcagtgctattt	16	11	8	6	0	2	2	2	1	1	1	3	2	2	2	0	1	2	3	0	1	8	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:69653276C>A	ENST00000435070.2	+	7	1378	c.1268C>A	c.(1267-1269)gCa>gAa	p.A423E	CPSF6_ENST00000551516.1_Intron|CPSF6_ENST00000266679.8_Missense_Mutation_p.A460E|CPSF6_ENST00000456847.3_Missense_Mutation_p.A350E	NM_007007.2	NP_008938.2	Q16630	CPSF6_HUMAN	cleavage and polyadenylation specific factor 6, 68kDa	423					mRNA polyadenylation (GO:0006378)|mRNA processing (GO:0006397)|protein tetramerization (GO:0051262)	membrane (GO:0016020)|mRNA cleavage factor complex (GO:0005849)|nucleus (GO:0005634)|paraspeckles (GO:0042382)|ribonucleoprotein complex (GO:0030529)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			endometrium(1)|large_intestine(7)|lung(8)	16	all_epithelial(5;2.47e-36)|Lung NSC(4;1.1e-32)|all_lung(4;6.26e-31)|Breast(13;1.59e-06)|Esophageal squamous(21;0.187)		Epithelial(6;4.89e-17)|BRCA - Breast invasive adenocarcinoma(5;8.5e-10)|Lung(24;6.04e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.0151)|LUSC - Lung squamous cell carcinoma(43;0.171)|Kidney(9;0.241)			AGAAATAGGGCAATCTCAAGC	0.348																																						ENST00000435070.2																			0				endometrium(1)|large_intestine(7)|lung(8)	16						c.(1267-1269)gCa>gAa		cleavage and polyadenylation specific factor 6, 68kDa							187	183	184					12																	69653276		2203	4300	6503	SO:0001583	missense	11052				mRNA polyadenylation|protein tetramerization	mRNA cleavage factor complex|paraspeckles|ribonucleoprotein complex	mRNA binding|nucleotide binding|protein binding	g.chr12:69653276C>A	X67336	CCDS8988.1, CCDS73494.1	12q15	2013-06-18	2002-08-29			ENSG00000111605		"RNA binding motif (RRM) containing"	13871	protein-coding gene	gene with protein product	"cleavage factor Im complex 68 kDa subunit"	604979	"cleavage and polyadenylation specific factor 6, 68kD subunit"			9659921, 17267687	Standard	NM_007007		Approved	CFIM, HPBRII-4, HPBRII-7, CFIM68	uc001sut.4	Q16630		ENST00000435070.2:c.1268C>A	12.37:g.69653276C>A	ENSP00000391774:p.Ala423Glu					CPSF6_ENST00000551516.1_Intron|CPSF6_ENST00000266679.8_Missense_Mutation_p.A460E|CPSF6_ENST00000456847.3_Missense_Mutation_p.A350E	p.A423E	NM_007007.2	NP_008938.2	Q16630	CPSF6_HUMAN	Epithelial(6;4.89e-17)|BRCA - Breast invasive adenocarcinoma(5;8.5e-10)|Lung(24;6.04e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.0151)|LUSC - Lung squamous cell carcinoma(43;0.171)|Kidney(9;0.241)		7	1378	+	all_epithelial(5;2.47e-36)|Lung NSC(4;1.1e-32)|all_lung(4;6.26e-31)|Breast(13;1.59e-06)|Esophageal squamous(21;0.187)		423					A8K7K9|Q53ES1|Q9BSJ7|Q9BW18	Missense_Mutation	SNP	ENST00000435070.2	37	c.1268C>A	CCDS8988.1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.355479	0.82243	.	.	ENSG00000111605	ENST00000435070;ENST00000456847;ENST00000266679	D;D;D	0.87650	-2.28;-2.28;-2.28	5.57	5.57	0.84162	.	0.000000	0.85682	D	0.000000	D	0.92113	0.7500	L	0.55990	1.75	0.80722	D	1	D;D;D	0.71674	0.993;0.993;0.998	P;P;D	0.75484	0.718;0.882;0.986	D	0.90634	0.4569	9	.	.	.	-11.475	19.94	0.97155	0.0:1.0:0.0:0.0	.	171;460;423	B4DSU9;Q16630-2;Q16630	.;.;CPSF6_HUMAN	E	423;350;460	ENSP00000391774:A423E;ENSP00000391437:A350E;ENSP00000266679:A460E	.	A	+	2	0	CPSF6	67939543	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.818000	0.86416	2.793000	0.96121	0.563000	0.77884	GCA		0.348	CPSF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403609.1	NM_007007		22	42	1	0	3.62473e-10	1	3.8659e-10	22	42					A	69653276	C	A	69653276	3	1	435	1	0	0	0	0	1	0	0	0	3829	710	25	5	1294	5	CPSF6	12	69653276	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	545758	69653276	64198619	5792	26717											
CNOT2	4848	broad.mit.edu	37	chr12	70724123	70724123	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ccactcccaggttggtcaggGcattggaattcctagcagga	9	9	12	11	0	1	0	1	0	0	0	3	2	3	2	3	5	1	3	3	5	2	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:70724123G>A	ENST00000418359.3	+	7	894	c.443G>A	c.(442-444)gGc>gAc	p.G148D	CNOT2_ENST00000229195.3_Missense_Mutation_p.G148D|CNOT2_ENST00000548230.1_3'UTR	NM_001199302.1	NP_001186231.1	Q9NZN8	CNOT2_HUMAN	CCR4-NOT transcription complex, subunit 2	148					gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of cytoplasmic mRNA processing body assembly (GO:0010606)|regulation of stem cell maintenance (GO:2000036)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|transcription from RNA polymerase II promoter (GO:0006366)|trophectodermal cell differentiation (GO:0001829)	CCR4-NOT complex (GO:0030014)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	RNA polymerase II transcription cofactor activity (GO:0001104)|RNA polymerase II transcription corepressor binding (GO:0001226)			cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|pancreas(2)|urinary_tract(1)	20	Renal(347;0.236)		GBM - Glioblastoma multiforme(1;4.77e-09)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00243)|STAD - Stomach adenocarcinoma(21;0.0118)			GTTGGTCAGGGCATTGGAATT	0.443																																						ENST00000229195.3																			0				cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|pancreas(2)|urinary_tract(1)	20						c.(442-444)gGc>gAc		CCR4-NOT transcription complex, subunit 2							121	114	116					12																	70724123		2203	4300	6503	SO:0001583	missense	4848				nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	protein binding|RNA polymerase II transcription cofactor activity	g.chr12:70724123G>A	AF180473	CCDS31857.1	12q15	2008-05-14				ENSG00000111596			7878	protein-coding gene	gene with protein product		604909		NOT2		10637334	Standard	NM_014515		Approved	CDC36, NOT2H	uc001svv.3	Q9NZN8		ENST00000418359.3:c.443G>A	12.37:g.70724123G>A	ENSP00000412091:p.Gly148Asp					CNOT2_ENST00000548230.1_3'UTR|CNOT2_ENST00000418359.3_Missense_Mutation_p.G148D	p.G148D	NM_014515.5	NP_055330.1	Q9NZN8	CNOT2_HUMAN	GBM - Glioblastoma multiforme(1;4.77e-09)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00243)|STAD - Stomach adenocarcinoma(21;0.0118)		6	1022	+	Renal(347;0.236)		148					Q9H3E0|Q9NSX5|Q9NWR6|Q9P028	Missense_Mutation	SNP	ENST00000418359.3	37	c.443G>A	CCDS31857.1	.	.	.	.	.	.	.	.	.	.	G	19.14	3.770413	0.69992	.	.	ENSG00000111596	ENST00000552231;ENST00000229195;ENST00000418359;ENST00000550641;ENST00000548159;ENST00000549750;ENST00000551043;ENST00000551873;ENST00000550194	T;T;T;T	0.53423	0.62;0.62;0.64;0.62	5.55	5.55	0.83447	.	0.044673	0.85682	D	0.000000	T	0.51702	0.1690	L	0.32530	0.975	0.80722	D	1	D	0.56521	0.976	P	0.51918	0.684	T	0.50136	-0.8863	10	0.51188	T	0.08	-5.1	19.8769	0.96880	0.0:0.0:1.0:0.0	.	148	Q9NZN8	CNOT2_HUMAN	D	148;148;148;128;139;148;148;63;148	ENSP00000229195:G148D;ENSP00000412091:G148D;ENSP00000449659:G139D;ENSP00000449260:G148D	ENSP00000229195:G148D	G	+	2	0	CNOT2	69010390	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.511000	0.81718	2.767000	0.95098	0.557000	0.71058	GGC		0.443	CNOT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404260.1			43	48	0	0	0	1	0	43	48					A	70724123	G	A	70724123	3	1	435	1	0	0	0	0	1	0	0	0	3619	1203	42	3	461	3	CNOT2	12	70724123	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	1070847	70724123	63127772	5793	26718											
PTPRB	5787	broad.mit.edu	37	chr12	70954643	70954643	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gtcaaagtccccagaggctgGactccagttgaaccaaaggc	12	6	11	12	0	1	2	1	1	0	1	3	3	3	3	4	3	1	2	4	3	3	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:70954643G>A	ENST00000261266.5	-	15	3615	c.3586C>T	c.(3586-3588)Cca>Tca	p.P1196S	PTPRB_ENST00000538708.1_Missense_Mutation_p.P1106S|PTPRB_ENST00000550857.1_Missense_Mutation_p.P1106S|PTPRB_ENST00000451516.2_Missense_Mutation_p.P1106S|PTPRB_ENST00000550358.1_Missense_Mutation_p.P1326S|PTPRB_ENST00000551525.1_Missense_Mutation_p.P1413S|PTPRB_ENST00000334414.6_Missense_Mutation_p.P1414S	NM_002837.4	NP_002828.3	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	1196	Fibronectin type-III 14. {ECO:0000255|PROSITE-ProRule:PRU00316}.				angiogenesis (GO:0001525)|dephosphorylation (GO:0016311)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|protein dephosphorylation (GO:0006470)	integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			CCAGAGGCTGGACTCCAGTTG	0.473																																						ENST00000334414.6																			0				breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107						c.(4240-4242)Cca>Tca		protein tyrosine phosphatase, receptor type, B							108	98	101					12																	70954643		1878	4116	5994	SO:0001583	missense	0				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr12:70954643G>A	X54131	CCDS44943.1, CCDS44944.1, CCDS55845.1, CCDS55846.1	12q15-q21	2013-02-11						"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Fibronectin type III domain containing"	9665	protein-coding gene	gene with protein product		176882		PTPB		2169617	Standard	NM_001109754		Approved		uc001swc.4	P23467	OTTHUMG00000169499	ENST00000261266.5:c.3586C>T	12.37:g.70954643G>A	ENSP00000261266:p.Pro1196Ser					PTPRB_ENST00000551525.1_Missense_Mutation_p.P1413S|PTPRB_ENST00000550358.1_Missense_Mutation_p.P1326S|PTPRB_ENST00000550857.1_Missense_Mutation_p.P1106S|PTPRB_ENST00000451516.2_Missense_Mutation_p.P1106S|PTPRB_ENST00000538708.1_Missense_Mutation_p.P1106S|PTPRB_ENST00000261266.5_Missense_Mutation_p.P1196S	p.P1414S	NM_001109754.2	NP_001103224.1	P23467	PTPRB_HUMAN	GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)		17	4284	-	Renal(347;0.236)		1196			Fibronectin type-III 16.		B7ZKS8|B7ZKT0|C9JX87|F5H3G6|Q14D85|Q3MIV7	Missense_Mutation	SNP	ENST00000261266.5	37	c.4240C>T	CCDS44944.1	.	.	.	.	.	.	.	.	.	.	g	24.8	4.569626	0.86439	.	.	ENSG00000127329	ENST00000334414;ENST00000451516;ENST00000550358;ENST00000538708;ENST00000550857;ENST00000261266;ENST00000551525;ENST00000548122	T;T;T;T;T;T;T;T	0.61274	0.12;0.12;0.12;0.12;0.12;0.12;0.12;0.12	5.23	5.23	0.72850	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.231976	0.43110	D	0.000607	T	0.64182	0.2575	L	0.49640	1.575	0.80722	D	1	B;B;P;P;P;B;P	0.45044	0.144;0.075;0.554;0.82;0.849;0.433;0.849	P;P;P;P;P;P;P	0.52710	0.455;0.455;0.533;0.513;0.697;0.707;0.624	T	0.57093	-0.7870	10	0.14656	T	0.56	.	18.7976	0.92001	0.0:0.0:1.0:0.0	.	1106;1106;1293;1413;1414;1196;1326	P23467-2;F5H3G6;Q6ZR19;F8VSD5;P23467-3;P23467;F8VU56	.;.;.;.;.;PTPRB_HUMAN;.	S	1414;1106;1326;1106;1106;1196;1413;1293	ENSP00000334928:P1414S;ENSP00000393028:P1106S;ENSP00000448058:P1326S;ENSP00000438927:P1106S;ENSP00000447302:P1106S;ENSP00000261266:P1196S;ENSP00000448349:P1413S;ENSP00000446982:P1293S	ENSP00000261266:P1196S	P	-	1	0	PTPRB	69240910	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	6.026000	0.70873	2.421000	0.82119	0.558000	0.71614	CCA		0.473	PTPRB-007	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000404439.1			30	41	0	0	0	1	0	30	41					A	70954643	G	A	70954643	3	1	435	1	0	0	0	0	1	0	0	0	12796	1174	41	3	2479	3	PTPRB	12	70954643	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	230520	70954643	62897252	5794	26719											
PTPRB	5787	broad.mit.edu	37	chr12	70963632	70963632	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cgacaccgtgtaggaatcaaCgtctcccccaccaggagtcc	10	6	9	16	3	2	0	1	0	1	0	4	3	3	2	5	2	1	1	5	2	3	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:70963632C>T	ENST00000261266.5	-	12	2832	c.2803G>A	c.(2803-2805)Gtt>Att	p.V935I	PTPRB_ENST00000538708.1_Missense_Mutation_p.V935I|PTPRB_ENST00000550857.1_Missense_Mutation_p.V845I|PTPRB_ENST00000451516.2_Missense_Mutation_p.V845I|PTPRB_ENST00000550358.1_Missense_Mutation_p.V1065I|PTPRB_ENST00000551525.1_Missense_Mutation_p.V1152I|PTPRB_ENST00000334414.6_Missense_Mutation_p.V1153I	NM_002837.4	NP_002828.3	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	935	Fibronectin type-III 11. {ECO:0000255|PROSITE-ProRule:PRU00316}.				angiogenesis (GO:0001525)|dephosphorylation (GO:0016311)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|protein dephosphorylation (GO:0006470)	integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			TAGGAATCAACGTCTCCCCCA	0.483																																						ENST00000334414.6																			0				breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107						c.(3457-3459)Gtt>Att		protein tyrosine phosphatase, receptor type, B							83	82	82					12																	70963632		2011	4176	6187	SO:0001583	missense	0				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr12:70963632C>T	X54131	CCDS44943.1, CCDS44944.1, CCDS55845.1, CCDS55846.1	12q15-q21	2013-02-11						"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Fibronectin type III domain containing"	9665	protein-coding gene	gene with protein product		176882		PTPB		2169617	Standard	NM_001109754		Approved		uc001swc.4	P23467	OTTHUMG00000169499	ENST00000261266.5:c.2803G>A	12.37:g.70963632C>T	ENSP00000261266:p.Val935Ile					PTPRB_ENST00000551525.1_Missense_Mutation_p.V1152I|PTPRB_ENST00000550358.1_Missense_Mutation_p.V1065I|PTPRB_ENST00000550857.1_Missense_Mutation_p.V845I|PTPRB_ENST00000451516.2_Missense_Mutation_p.V845I|PTPRB_ENST00000538708.1_Missense_Mutation_p.V935I|PTPRB_ENST00000261266.5_Missense_Mutation_p.V935I	p.V1153I	NM_001109754.2	NP_001103224.1	P23467	PTPRB_HUMAN	GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)		14	3501	-	Renal(347;0.236)		935			Fibronectin type-III 13.		B7ZKS8|B7ZKT0|C9JX87|F5H3G6|Q14D85|Q3MIV7	Missense_Mutation	SNP	ENST00000261266.5	37	c.3457G>A	CCDS44944.1	.	.	.	.	.	.	.	.	.	.	C	19.34	3.808858	0.70797	.	.	ENSG00000127329	ENST00000334414;ENST00000451516;ENST00000550358;ENST00000538708;ENST00000550857;ENST00000261266;ENST00000551525;ENST00000548122	T;T;T;T;T;T;T;T	0.52295	0.67;0.67;0.67;0.67;0.67;0.67;0.67;0.67	5.3	4.41	0.53225	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.058738	0.64402	D	0.000002	T	0.65575	0.2704	M	0.80508	2.5	0.47621	D	0.999474	D;D;P;D;D;D;D	0.67145	0.992;0.984;0.945;0.994;0.996;0.994;0.993	P;P;D;P;P;P;P	0.63957	0.843;0.843;0.92;0.902;0.843;0.903;0.742	T	0.65651	-0.6116	10	0.22706	T	0.39	.	14.0835	0.64939	0.0:0.9273:0.0:0.0727	.	845;935;1032;1152;1153;935;1065	P23467-2;F5H3G6;Q6ZR19;F8VSD5;P23467-3;P23467;F8VU56	.;.;.;.;.;PTPRB_HUMAN;.	I	1153;845;1065;935;845;935;1152;1032	ENSP00000334928:V1153I;ENSP00000393028:V845I;ENSP00000448058:V1065I;ENSP00000438927:V935I;ENSP00000447302:V845I;ENSP00000261266:V935I;ENSP00000448349:V1152I;ENSP00000446982:V1032I	ENSP00000261266:V935I	V	-	1	0	PTPRB	69249899	1.000000	0.71417	0.461000	0.27105	0.787000	0.44495	4.379000	0.59575	1.365000	0.46057	0.544000	0.68410	GTT		0.483	PTPRB-007	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000404439.1			20	21	0	0	0	1	0	20	21					T	70963632	C	T	70963632	3	4	435	1	0	0	0	0	1	0	0	0	12796	536	19	1	3274	1	PTPRB	12	70963632	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	8989	70963632	62888263	5795	26720											
PTPRB	5787	broad.mit.edu	37	chr12	71003069	71003069	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gacacagaatggctggaggcCttggactccgccagggtgaa	10	6	15	10	1	0	2	0	1	0	1	1	5	1	4	3	5	0	1	3	5	2	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:71003069C>A	ENST00000261266.5	-	2	134	c.105G>T	c.(103-105)aaG>aaT	p.K35N	PTPRB_ENST00000538708.1_Missense_Mutation_p.K35N|PTPRB_ENST00000550857.1_Missense_Mutation_p.K35N|PTPRB_ENST00000538174.2_5'UTR|PTPRB_ENST00000451516.2_Missense_Mutation_p.K35N|PTPRB_ENST00000550358.1_Missense_Mutation_p.K253N|PTPRB_ENST00000551525.1_Missense_Mutation_p.K252N|PTPRB_ENST00000334414.6_Missense_Mutation_p.K253N	NM_002837.4	NP_002828.3	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	35	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				angiogenesis (GO:0001525)|dephosphorylation (GO:0016311)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|protein dephosphorylation (GO:0006470)	integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			GGCTGGAGGCCTTGGACTCCG	0.537																																						ENST00000334414.6																			0				breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107						c.(757-759)aaG>aaT		protein tyrosine phosphatase, receptor type, B							50	55	53					12																	71003069		1916	4113	6029	SO:0001583	missense	0				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr12:71003069C>A	X54131	CCDS44943.1, CCDS44944.1, CCDS55845.1, CCDS55846.1	12q15-q21	2013-02-11						"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Fibronectin type III domain containing"	9665	protein-coding gene	gene with protein product		176882		PTPB		2169617	Standard	NM_001109754		Approved		uc001swc.4	P23467	OTTHUMG00000169499	ENST00000261266.5:c.105G>T	12.37:g.71003069C>A	ENSP00000261266:p.Lys35Asn					PTPRB_ENST00000551525.1_Missense_Mutation_p.K252N|PTPRB_ENST00000550358.1_Missense_Mutation_p.K253N|PTPRB_ENST00000550857.1_Missense_Mutation_p.K35N|PTPRB_ENST00000451516.2_Missense_Mutation_p.K35N|PTPRB_ENST00000538708.1_Missense_Mutation_p.K35N|PTPRB_ENST00000261266.5_Missense_Mutation_p.K35N|PTPRB_ENST00000538174.2_5'UTR	p.K253N	NM_001109754.2	NP_001103224.1	P23467	PTPRB_HUMAN	GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)		4	803	-	Renal(347;0.236)		35			Fibronectin type-III 3.		B7ZKS8|B7ZKT0|C9JX87|F5H3G6|Q14D85|Q3MIV7	Missense_Mutation	SNP	ENST00000261266.5	37	c.759G>T	CCDS44944.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	3.218|3.218	-0.160115|-0.160115	0.06502|0.06502	.|.	.|.	ENSG00000127329|ENSG00000127329	ENST00000547715|ENST00000334414;ENST00000451516;ENST00000550358;ENST00000544694;ENST00000538708;ENST00000550857;ENST00000261266;ENST00000551525;ENST00000548122	.|T;T;T;T;T;T;T;T	.|0.04015	.|3.73;3.73;3.73;3.73;3.73;3.73;3.73;3.73	4.89|4.89	-1.32|-1.32	0.09201|0.09201	.|Fibronectin, type III (2);	.|1.326240	.|0.04748	.|N	.|0.424095	T|T	0.04092|0.04092	0.0114|0.0114	L|L	0.44542|0.44542	1.39|1.39	0.09310|0.09310	N|N	0.999996|0.999996	.|B;B;B;B;B;B;B;B	.|0.26902	.|0.001;0.004;0.002;0.163;0.001;0.001;0.0;0.02	.|B;B;B;B;B;B;B;B	.|0.23419	.|0.006;0.019;0.01;0.046;0.006;0.004;0.006;0.027	T|T	0.43523|0.43523	-0.9386|-0.9386	5|10	.|0.15499	.|T	.|0.54	.|.	1.4522|1.4522	0.02377|0.02377	0.1419:0.3154:0.1386:0.4041|0.1419:0.3154:0.1386:0.4041	.|.	.|35;35;132;253;252;253;35;253	.|P23467-2;F5H3G6;Q6ZR19;Q6ZTX7;F8VSD5;P23467-3;P23467;F8VU56	.|.;.;.;.;.;.;PTPRB_HUMAN;.	C|N	27|253;35;253;253;35;35;35;252;132	.|ENSP00000334928:K253N;ENSP00000393028:K35N;ENSP00000448058:K253N;ENSP00000438927:K35N;ENSP00000447302:K35N;ENSP00000261266:K35N;ENSP00000448349:K252N;ENSP00000446982:K132N	.|ENSP00000261266:K35N	G|K	-|-	1|3	0|2	PTPRB|PTPRB	69289336|69289336	0.000000|0.000000	0.05858|0.05858	0.035000|0.035000	0.18076|0.18076	0.001000|0.001000	0.01503|0.01503	-0.977000|-0.977000	0.03782|0.03782	-0.490000|-0.490000	0.06707|0.06707	-1.512000|-1.512000	0.00943|0.00943	GGC|AAG		0.537	PTPRB-007	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000404439.1			15	16	1	0	1.49906e-05	1	1.54943e-05	15	16					A	71003069	C	A	71003069	3	1	435	1	0	0	0	0	1	0	0	0	12796	680	24	5	6012	5	PTPRB	12	71003069	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	39437	71003069	62848826	5796	26721											
PTPRR	5801	broad.mit.edu	37	chr12	71095090	71095090	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	catgtccaatgtaagagataCgttggaccctcttctacatt	11	13	7	10	1	2	1	0	0	2	1	3	3	3	2	2	1	2	2	2	1	4	6	rs186568459	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:71095090C>T	ENST00000283228.2	-	7	1473	c.1021G>A	c.(1021-1023)Gta>Ata	p.V341I	PTPRR_ENST00000342084.4_Missense_Mutation_p.V229I|PTPRR_ENST00000378778.1_Missense_Mutation_p.V135I|PTPRR_ENST00000549308.1_Missense_Mutation_p.V96I|PTPRR_ENST00000440835.2_Missense_Mutation_p.V96I	NM_002849.3	NP_002840.2	Q15256	PTPRR_HUMAN	protein tyrosine phosphatase, receptor type, R	341					ERBB2 signaling pathway (GO:0038128)|in utero embryonic development (GO:0001701)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	41			GBM - Glioblastoma multiforme(2;5.67e-07)|Lung(24;0.00283)|OV - Ovarian serous cystadenocarcinoma(12;0.00578)|LUSC - Lung squamous cell carcinoma(43;0.132)	COAD - Colon adenocarcinoma(1;0.136)		GTAAGAGATACGTTGGACCCT	0.408													C|||	3	0.000599042	0	0.0029	5008	,	,		18853	0.001		0	False		,,,				2504	0					ENST00000283228.2																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	41						c.(1021-1023)Gta>Ata		protein tyrosine phosphatase, receptor type, R							98	86	90					12																	71095090		2203	4300	6503	SO:0001583	missense	5801				in utero embryonic development	cell surface|Golgi apparatus|integral to membrane|nucleus|perinuclear region of cytoplasm|plasma membrane	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr12:71095090C>T	D64053	CCDS8998.1, CCDS44945.1, CCDS55847.1, CCDS55848.1	12q15	2011-10-07			ENSG00000153233	ENSG00000153233		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"	9680	protein-coding gene	gene with protein product		602853		PTPRQ		7557444, 10393441	Standard	NM_002849		Approved	PTPBR7, PTP-SL, EC-PTP, PCPTP1	uc001swi.2	Q15256	OTTHUMG00000169502	ENST00000283228.2:c.1021G>A	12.37:g.71095090C>T	ENSP00000283228:p.Val341Ile					PTPRR_ENST00000378778.1_Missense_Mutation_p.V135I|PTPRR_ENST00000549308.1_Missense_Mutation_p.V96I|PTPRR_ENST00000440835.2_Missense_Mutation_p.V96I|PTPRR_ENST00000342084.4_Missense_Mutation_p.V229I	p.V341I	NM_002849.3	NP_002840.2	Q15256	PTPRR_HUMAN	GBM - Glioblastoma multiforme(2;5.67e-07)|Lung(24;0.00283)|OV - Ovarian serous cystadenocarcinoma(12;0.00578)|LUSC - Lung squamous cell carcinoma(43;0.132)	COAD - Colon adenocarcinoma(1;0.136)	7	1473	-			341					B2R5Z7|B7Z3J1|F5GXR7|O00342|Q92682|Q9UE65	Missense_Mutation	SNP	ENST00000283228.2	37	c.1021G>A	CCDS8998.1	2	9.157509157509158E-4	0	0.0	1	0.0027624309392265192	1	0.0017482517482517483	0	0.0	C	27.7	4.859594	0.91433	.	.	ENSG00000153233	ENST00000440835;ENST00000283228;ENST00000378778;ENST00000342084;ENST00000549308;ENST00000550661	T;T;T;T;T;T	0.24151	3.9;3.63;3.89;3.84;3.9;1.87	5.59	5.59	0.84812	.	0.000000	0.47455	D	0.000227	T	0.56630	0.1998	M	0.79693	2.465	0.58432	D	0.999999	D;D;D;D	0.76494	0.999;0.999;0.999;0.999	D;D;D;D	0.78314	0.979;0.987;0.991;0.979	T	0.59611	-0.7422	10	0.87932	D	0	-17.0238	19.956	0.97218	0.0:1.0:0.0:0.0	.	190;229;135;341	B7Z998;F5GXR7;Q15256-4;Q15256	.;.;.;PTPRR_HUMAN	I	96;341;135;229;96;96	ENSP00000391750:V96I;ENSP00000283228:V341I;ENSP00000368054:V135I;ENSP00000339605:V229I;ENSP00000446943:V96I;ENSP00000449616:V96I	ENSP00000283228:V341I	V	-	1	0	PTPRR	69381357	1.000000	0.71417	0.988000	0.46212	0.875000	0.50365	6.911000	0.75746	2.788000	0.95919	0.557000	0.71058	GTA		0.408	PTPRR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404485.1	NM_002849		36	53	0	0	0	1	0	36	53					T	71095090	C	T	71095090	3	4	435	1	0	0	0	0	1	0	0	0	12810	536	19	1	984	1	PTPRR	12	71095090	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	92021	71095090	62756805	5797	26722											
LGR5	8549	broad.mit.edu	37	chr12	71965341	71965341	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttacccagtttttcagtctGccaaaagcttcagaaaatgt	12	14	6	9	0	3	1	2	0	1	1	3	1	3	1	2	0	3	2	2	0	5	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:71965341G>A	ENST00000266674.5	+	12	1429	c.1118G>A	c.(1117-1119)tGc>tAc	p.C373Y	LGR5_ENST00000536515.1_Missense_Mutation_p.C301Y|LGR5_ENST00000540815.2_Missense_Mutation_p.C349Y			O75473	LGR5_HUMAN	leucine-rich repeat containing G protein-coupled receptor 5	373					G-protein coupled receptor signaling pathway (GO:0007186)|inner ear development (GO:0048839)|positive regulation of canonical Wnt signaling pathway (GO:0090263)	integral component of plasma membrane (GO:0005887)|trans-Golgi network membrane (GO:0032588)	G-protein coupled receptor activity (GO:0004930)|transmembrane signaling receptor activity (GO:0004888)		NUP107/LGR5(2)	endometrium(2)|kidney(3)|large_intestine(2)|lung(24)|ovary(1)|pancreas(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	48						TTTTCAGTCTGCCAAAAGCTT	0.353																																						ENST00000266674.5																		NUP107/LGR5(2)	0				endometrium(2)|kidney(3)|large_intestine(2)|lung(24)|ovary(1)|pancreas(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	48						c.(1117-1119)tGc>tAc		leucine-rich repeat containing G protein-coupled receptor 5							97	93	94					12																	71965341		2203	4299	6502	SO:0001583	missense	8549					integral to plasma membrane	protein-hormone receptor activity	g.chr12:71965341G>A	AF062006	CCDS9000.1, CCDS61194.1, CCDS61195.1	12q22-q23	2012-08-21	2011-01-25	2004-11-12				"GPCR / Class A : Orphans"	4504	protein-coding gene	gene with protein product		606667	"G protein-coupled receptor 49", "leucine-rich repeat-containing G protein-coupled receptor 5"	GPR67, GPR49		9642114	Standard	NM_003667		Approved	HG38, FEX	uc001swl.4	O75473	OTTHUMG00000169543	ENST00000266674.5:c.1118G>A	12.37:g.71965341G>A	ENSP00000266674:p.Cys373Tyr					LGR5_ENST00000540815.2_Missense_Mutation_p.C349Y|LGR5_ENST00000536515.1_Missense_Mutation_p.C301Y	p.C373Y			O75473	LGR5_HUMAN			12	1429	+			373					D8MCT0|Q4VAM0|Q4VAM2|Q9UP75	Missense_Mutation	SNP	ENST00000266674.5	37	c.1118G>A	CCDS9000.1	.	.	.	.	.	.	.	.	.	.	G	18.23	3.576963	0.65878	.	.	ENSG00000139292	ENST00000266674;ENST00000451585;ENST00000536515;ENST00000540815	T;T;T	0.59083	0.29;0.29;0.29	5.67	5.67	0.87782	.	0.000000	0.64402	D	0.000001	T	0.79317	0.4425	M	0.82193	2.58	0.54753	D	0.999987	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.81645	-0.0839	10	0.87932	D	0	.	18.7588	0.91842	0.0:0.0:1.0:0.0	.	349;373	O75473-2;O75473	.;LGR5_HUMAN	Y	373;373;301;349	ENSP00000266674:C373Y;ENSP00000443033:C301Y;ENSP00000441035:C349Y	ENSP00000266674:C373Y	C	+	2	0	LGR5	70251608	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.478000	0.81082	2.697000	0.92050	0.655000	0.94253	TGC		0.353	LGR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404744.1	NM_003667		16	27	0	0	0	1	0	16	27					A	71965341	G	A	71965341	3	1	435	1	0	0	0	0	1	0	0	0	8757	1319	46	3	1164	3	LGR5	12	71965341	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	870251	71965341	61886554	5798	26723											
LGR5	8549	broad.mit.edu	37	chr12	71977912	71977912	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggtggcagcaagtatggcGcctcccctctctgcctgcct	4	10	12	15	1	1	0	0	0	1	0	3	0	2	0	5	3	3	3	5	3	2	1	rs575136590		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:71977912G>A	ENST00000266674.5	+	18	2433	c.2122G>A	c.(2122-2124)Gcc>Acc	p.A708T	RP11-186F10.2_ENST00000546601.1_RNA|LGR5_ENST00000536515.1_Missense_Mutation_p.A636T|LGR5_ENST00000540815.2_Missense_Mutation_p.A684T			O75473	LGR5_HUMAN	leucine-rich repeat containing G protein-coupled receptor 5	708					G-protein coupled receptor signaling pathway (GO:0007186)|inner ear development (GO:0048839)|positive regulation of canonical Wnt signaling pathway (GO:0090263)	integral component of plasma membrane (GO:0005887)|trans-Golgi network membrane (GO:0032588)	G-protein coupled receptor activity (GO:0004930)|transmembrane signaling receptor activity (GO:0004888)	p.A708T(1)	NUP107/LGR5(2)	endometrium(2)|kidney(3)|large_intestine(2)|lung(24)|ovary(1)|pancreas(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	48						CAAGTATGGCGCCTCCCCTCT	0.552													g|||	1	0.000199681	0	0	5008	,	,		18123	0		0	False		,,,				2504	0.001					ENST00000266674.5																		NUP107/LGR5(2)	1	Substitution - Missense(1)	p.A708T(1)	endometrium(1)	endometrium(2)|kidney(3)|large_intestine(2)|lung(24)|ovary(1)|pancreas(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	48						c.(2122-2124)Gcc>Acc		leucine-rich repeat containing G protein-coupled receptor 5							136	135	136					12																	71977912		2203	4300	6503	SO:0001583	missense	8549					integral to plasma membrane	protein-hormone receptor activity	g.chr12:71977912G>A	AF062006	CCDS9000.1, CCDS61194.1, CCDS61195.1	12q22-q23	2012-08-21	2011-01-25	2004-11-12				"GPCR / Class A : Orphans"	4504	protein-coding gene	gene with protein product		606667	"G protein-coupled receptor 49", "leucine-rich repeat-containing G protein-coupled receptor 5"	GPR67, GPR49		9642114	Standard	NM_003667		Approved	HG38, FEX	uc001swl.4	O75473	OTTHUMG00000169543	ENST00000266674.5:c.2122G>A	12.37:g.71977912G>A	ENSP00000266674:p.Ala708Thr					LGR5_ENST00000540815.2_Missense_Mutation_p.A684T|LGR5_ENST00000536515.1_Missense_Mutation_p.A636T	p.A708T			O75473	LGR5_HUMAN			18	2433	+			708					D8MCT0|Q4VAM0|Q4VAM2|Q9UP75	Missense_Mutation	SNP	ENST00000266674.5	37	c.2122G>A	CCDS9000.1	.	.	.	.	.	.	.	.	.	.	g	9.745	1.165961	0.21538	.	.	ENSG00000139292	ENST00000266674;ENST00000451585;ENST00000536515;ENST00000540815	D;D;D	0.87491	-2.26;-2.26;-2.26	5.85	4.05	0.47172	GPCR, rhodopsin-like superfamily (1);	0.520709	0.18848	N	0.129498	T	0.77018	0.4069	N	0.12746	0.255	0.22531	N	0.999018	B;B	0.29085	0.051;0.232	B;B	0.34301	0.027;0.179	T	0.66674	-0.5864	10	0.39692	T	0.17	.	9.9882	0.41854	0.2049:0.0:0.7951:0.0	.	684;708	O75473-2;O75473	.;LGR5_HUMAN	T	708;708;636;684	ENSP00000266674:A708T;ENSP00000443033:A636T;ENSP00000441035:A684T	ENSP00000266674:A708T	A	+	1	0	LGR5	70264179	0.424000	0.25490	0.570000	0.28473	0.214000	0.24535	2.252000	0.43196	0.842000	0.35045	-0.119000	0.15052	GCC		0.552	LGR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404744.1	NM_003667		61	70	0	0	0	1	0	61	70					A	71977912	G	A	71977912	3	1	435	1	0	0	0	0	1	0	0	0	8757	1087	38	1	2192	1	LGR5	12	71977912	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	12571	71977912	61873983	5799	26724											
ZFC3H1	196441	broad.mit.edu	37	chr12	72056884	72056884	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaggaggtctgcaccccggCttgcctcctcgctcacccac	6	7	10	18	2	2	1	1	0	1	1	4	2	3	2	5	3	2	3	5	3	0	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:72056884C>T	ENST00000378743.3	-	1	865	c.507G>A	c.(505-507)aaG>aaA	p.K169K	ZFC3H1_ENST00000552037.1_Silent_p.K169K|ZFC3H1_ENST00000549407.1_5'UTR|THAP2_ENST00000308086.2_5'UTR|ZFC3H1_ENST00000548100.1_Silent_p.K169K|THAP2_ENST00000547843.1_5'Flank	NM_144982.4	NP_659419.3	O60293	ZC3H1_HUMAN	zinc finger, C3H1-type containing	169					RNA processing (GO:0006396)	extracellular space (GO:0005615)|intracellular (GO:0005622)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						TGCACCCCGGCTTGCCTCCTC	0.657																																						ENST00000378743.3																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						c.(505-507)aaG>aaA		zinc finger, C3H1-type containing							83	97	93					12																	72056884		2008	4164	6172	SO:0001819	synonymous_variant	196441				RNA processing	intracellular	metal ion binding	g.chr12:72056884C>T	AB011118	CCDS41813.1	12q21.1	2013-01-25	2008-10-01	2008-10-01		ENSG00000133858		"Zinc finger, C3H1-type containing"	28328	protein-coding gene	gene with protein product			"proline/serine-rich coiled-coil 2", "coiled-coil domain containing 131"	PSRC2, CCDC131		9628581	Standard	NM_144982		Approved	MGC23401, KIAA0546	uc001swo.2	O60293	OTTHUMG00000169545	ENST00000378743.3:c.507G>A	12.37:g.72056884C>T						ZFC3H1_ENST00000548100.1_Silent_p.K169K|ZFC3H1_ENST00000552037.1_Silent_p.K169K|THAP2_ENST00000308086.2_5'UTR|ZFC3H1_ENST00000549407.1_5'UTR	p.K169K	NM_144982.4	NP_659419.3	O60293	ZC3H1_HUMAN			1	865	-			169					Q6GMU1|Q6P2S9|Q6ZV36|Q96BE7	Silent	SNP	ENST00000378743.3	37	c.507G>A	CCDS41813.1																																																																																				0.657	ZFC3H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404751.1	NM_144982		31	56	0	0	0	1	0	31	56					T	72056884	C	T	72056884	2	4	435	1	0	0	0	0	0	0	0	1	17630	796	28	3		3	ZFC3H1	12	72056884	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	78972	72056884	61795011	5800	26725											
TBC1D15	64786	broad.mit.edu	37	chr12	72278612	72278612	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tgctccaagtcatagaaatgGgaaaagcaaatggtcattcc	15	9	9	8	0	2	1	2	0	0	1	4	2	4	2	2	2	2	2	2	2	6	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:72278612G>A	ENST00000550746.1	+	5	429	c.365G>A	c.(364-366)gGg>gAg	p.G122E	TBC1D15_ENST00000393309.3_Intron|TBC1D15_ENST00000319106.8_Missense_Mutation_p.G130E|TBC1D15_ENST00000485960.2_Missense_Mutation_p.G122E	NM_001146213.1|NM_022771.4	NP_001139685.2|NP_073608.4	Q8TC07	TBC15_HUMAN	TBC1 domain family, member 15	122					positive regulation of Rab GTPase activity (GO:0032851)|regulation of Rab GTPase activity (GO:0032313)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	Rab GTPase activator activity (GO:0005097)			NS(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						CATAGAAATGGGAAAAGCAAA	0.388																																						ENST00000550746.1																			0				NS(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						c.(364-366)gGg>gAg		TBC1 domain family, member 15							133	131	131					12																	72278612		2203	4300	6503	SO:0001583	missense	64786						protein binding|Rab GTPase activator activity	g.chr12:72278612G>A	AL157464	CCDS31858.1, CCDS53814.1, CCDS55849.1	12q15	2013-07-09			ENSG00000121749	ENSG00000121749			25694	protein-coding gene	gene with protein product		612662				16055087	Standard	NM_022771		Approved	FLJ12085, DKFZp761D0223	uc001swu.3	Q8TC07	OTTHUMG00000158553	ENST00000550746.1:c.365G>A	12.37:g.72278612G>A	ENSP00000448182:p.Gly122Glu					TBC1D15_ENST00000393309.3_Intron|TBC1D15_ENST00000319106.8_Missense_Mutation_p.G130E|TBC1D15_ENST00000485960.2_Missense_Mutation_p.G122E	p.G122E	NM_001146213.1|NM_022771.4	NP_001139685.2|NP_073608.4	Q8TC07	TBC15_HUMAN			5	429	+			122					B4DMT9|B9A6L6|J3KNI9|Q9HA83	Missense_Mutation	SNP	ENST00000550746.1	37	c.365G>A	CCDS31858.1	.	.	.	.	.	.	.	.	.	.	G	11.41	1.631365	0.28978	.	.	ENSG00000121749	ENST00000482439;ENST00000550746;ENST00000491063;ENST00000319106;ENST00000485960	T;T;T;T;T	0.27256	1.68;1.68;1.68;1.68;1.68	5.76	3.95	0.45737	Domain of unknown function DUF3548 (1);	0.419540	0.29730	N	0.011349	T	0.23370	0.0565	N	0.19112	0.55	0.80722	D	1	B;B;D	0.58268	0.0;0.023;0.982	B;B;P	0.55055	0.002;0.016;0.767	T	0.01998	-1.1232	10	0.06625	T	0.88	-1.6095	12.3899	0.55352	0.1358:0.0:0.8642:0.0	.	130;122;122	E9PH93;Q8TC07-2;Q8TC07	.;.;TBC15_HUMAN	E	23;122;23;130;122	ENSP00000449643:G23E;ENSP00000448182:G122E;ENSP00000418091:G23E;ENSP00000318262:G130E;ENSP00000420678:G122E	ENSP00000318262:G130E	G	+	2	0	TBC1D15	70564879	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	3.751000	0.55165	0.785000	0.33685	-0.216000	0.12614	GGG		0.388	TBC1D15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000351266.2	NM_022771		10	22	0	0	0	1	0	10	22					A	72278612	G	A	72278612	3	1	435	1	0	0	0	0	1	0	0	0	15601	1232	43	3	507	3	TBC1D15	12	72278612	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	221728	72278612	61573283	5801	26726											
CAPS2	84698	broad.mit.edu	37	chr12	75678791	75678791	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	catttcaccaataataccacGtttgaattctccataatcaa	15	13	2	11	1	3	1	2	1	1	0	4	1	3	1	3	0	1	1	3	0	6	6			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:75678791G>A	ENST00000409445.3	-	16	1718	c.1522C>T	c.(1522-1524)Cgt>Tgt	p.R508C	RP11-560G2.1_ENST00000549953.1_RNA|CAPS2_ENST00000409004.1_5'UTR|CAPS2_ENST00000409799.1_Missense_Mutation_p.R426C|CAPS2_ENST00000393284.3_Missense_Mutation_p.R276C|CAPS2_ENST00000442339.2_Missense_Mutation_p.R98C	NM_032606.3	NP_115995.2	Q9BXY5	CAYP2_HUMAN	calcyphosine 2	508	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.						calcium ion binding (GO:0005509)			endometrium(2)|large_intestine(1)|lung(4)|ovary(2)|skin(1)	10						ATAATACCACGTTTGAATTCT	0.313																																						ENST00000393284.3																			0				endometrium(2)|large_intestine(1)|lung(4)|ovary(2)|skin(1)	10						c.(826-828)Cgt>Tgt		calcyphosine 2							131	118	122					12																	75678791		2203	4300	6503	SO:0001583	missense	84698						calcium ion binding	g.chr12:75678791G>A	AF251056	CCDS9008.2, CCDS66424.1, CCDS73497.1	12q14.1	2013-01-10	2005-05-09		ENSG00000180881	ENSG00000180881		"EF-hand domain containing"	16471	protein-coding gene	gene with protein product		607724	"calcyphosphine 2"			11846421	Standard	NM_032606		Approved		uc001sxk.4	Q9BXY5	OTTHUMG00000152787	ENST00000409445.3:c.1522C>T	12.37:g.75678791G>A	ENSP00000386959:p.Arg508Cys					CAPS2_ENST00000409445.3_Missense_Mutation_p.R508C|CAPS2_ENST00000409799.1_Missense_Mutation_p.R426C|CAPS2_ENST00000409004.1_5'UTR|RP11-560G2.1_ENST00000549953.1_RNA|CAPS2_ENST00000442339.2_Missense_Mutation_p.R98C	p.R276C			Q9BXY5	CAYP2_HUMAN			15	1427	-			508					Q6PH84|Q8N242|Q8NAY5	Missense_Mutation	SNP	ENST00000409445.3	37	c.826C>T	CCDS9008.2	.	.	.	.	.	.	.	.	.	.	G	10.66	1.413460	0.25465	.	.	ENSG00000180881	ENST00000409799;ENST00000409445;ENST00000378703;ENST00000393284;ENST00000442339	T;T;T;T	0.71698	-0.59;-0.59;-0.59;-0.59	5.53	4.64	0.57946	EF-hand-like domain (1);	0.221670	0.38837	N	0.001548	T	0.66665	0.2812	M	0.71581	2.175	0.58432	D	0.999991	P;B;P;B;B	0.43412	0.456;0.084;0.806;0.394;0.211	B;B;B;B;B	0.34931	0.089;0.021;0.192;0.076;0.052	T	0.70292	-0.4912	10	0.44086	T	0.13	-6.2187	14.4315	0.67254	0.0707:0.0:0.9293:0.0	.	98;276;244;508;426	A2RRN2;Q9BXY5-2;Q9BXY5-3;Q9BXY5;B9A061	.;.;.;CAYP2_HUMAN;.	C	426;508;244;276;98	ENSP00000386977:R426C;ENSP00000386959:R508C;ENSP00000376963:R276C;ENSP00000389633:R98C	ENSP00000367975:R244C	R	-	1	0	CAPS2	73965058	0.987000	0.35691	0.958000	0.39756	0.027000	0.11550	3.983000	0.56916	1.471000	0.48121	0.650000	0.86243	CGT		0.313	CAPS2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000327880.2			23	34	0	0	0	1	0	23	34					A	75678791	G	A	75678791	3	1	435	1	0	0	0	0	1	0	0	0	2638	1145	40	1	163	1	CAPS2	12	75678791	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	3400179	75678791	58173104	5802	26727											
GLIPR1L1	256710	broad.mit.edu	37	chr12	75728642	75728642	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaagcccacaacgaatggcGtggcaaagtcaaccctcccg	13	4	10	14	3	1	1	1	0	0	1	2	2	2	1	3	2	3	1	3	2	5	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:75728642G>A	ENST00000378695.4	+	1	224	c.134G>A	c.(133-135)cGt>cAt	p.R45H	CAPS2_ENST00000442339.2_Intron|GLIPR1L1_ENST00000312442.2_Missense_Mutation_p.R45H			Q6UWM5	GPRL1_HUMAN	GLI pathogenesis-related 1 like 1	45	SCP.				binding of sperm to zona pellucida (GO:0007339)	acrosomal vesicle (GO:0001669)|extracellular region (GO:0005576)|sperm connecting piece (GO:0097224)				endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1)	10						AACGAATGGCGTGGCAAAGTC	0.498											OREG0021998	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000312442.2																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1)	10						c.(133-135)cGt>cAt		GLI pathogenesis-related 1 like 1							104	98	100					12																	75728642		2203	4300	6503	SO:0001583	missense	256710					extracellular region		g.chr12:75728642G>A	BC014603	CCDS9009.1	12q21.1	2014-06-03				ENSG00000173401			28392	protein-coding gene	gene with protein product		610395				12477932	Standard	NM_152779		Approved	MGC26856	uc001sxn.3	Q6UWM5	OTTHUMG00000169755	ENST00000378695.4:c.134G>A	12.37:g.75728642G>A	ENSP00000367967:p.Arg45His		OREG0021998	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1162	GLIPR1L1_ENST00000378695.4_Missense_Mutation_p.R45H|CAPS2_ENST00000442339.2_Intron	p.R45H	NM_152779.2	NP_689992.1	Q6UWM5	GPRL1_HUMAN			1	180	+			45					Q96L06	Missense_Mutation	SNP	ENST00000378695.4	37	c.134G>A		.	.	.	.	.	.	.	.	.	.	G	22.0	4.235568	0.79800	.	.	ENSG00000173401	ENST00000378695;ENST00000312442	T;T	0.57752	0.38;0.38	4.81	4.81	0.61882	CAP domain (3);	0.000000	0.85682	D	0.000000	D	0.83285	0.5221	H	0.98996	4.395	0.53005	D	0.99996	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.998	D	0.90075	0.4166	10	0.87932	D	0	.	14.7828	0.69779	0.0:0.0:1.0:0.0	.	45;45	Q6UWM5;Q6UWM5-2	GPRL1_HUMAN;.	H	45	ENSP00000367967:R45H;ENSP00000310770:R45H	ENSP00000310770:R45H	R	+	2	0	GLIPR1L1	74014909	0.930000	0.31532	0.044000	0.18714	0.125000	0.20455	5.322000	0.65852	2.225000	0.72522	0.563000	0.77884	CGT		0.498	GLIPR1L1-002	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000405714.1	NM_152779		9	31	0	0	0	1	0	9	31					A	75728642	G	A	75728642	3	1	435	1	0	0	0	0	1	0	0	0	6442	1145	40	1	136	1	GLIPR1L1	12	75728642	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	49851	75728642	58123253	5803	26728											
OSBPL8	114882	broad.mit.edu	37	chr12	76844712	76844712	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ataagcttcttttccttggcGctgactcatctttcctggtg	5	17	8	11	1	3	1	1	1	2	0	5	1	5	1	2	2	1	2	2	2	1	6			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:76844712G>A	ENST00000261183.3	-	4	615	c.136C>T	c.(136-138)Cgc>Tgc	p.R46C	OSBPL8_ENST00000393250.4_Missense_Mutation_p.R4C|OSBPL8_ENST00000393249.2_Missense_Mutation_p.R4C	NM_020841.4	NP_065892.1	Q9BZF1	OSBL8_HUMAN	oxysterol binding protein-like 8	46					fat cell differentiation (GO:0045444)|lipid transport (GO:0006869)|negative regulation of cell migration (GO:0030336)|negative regulation of sequestering of triglyceride (GO:0010891)|positive regulation of insulin receptor signaling pathway (GO:0046628)|positive regulation of protein kinase B signaling (GO:0051897)|protein localization to nuclear pore (GO:0090204)	membrane (GO:0016020)|nuclear membrane (GO:0031965)	cholesterol binding (GO:0015485)			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(14)|ovary(2)	28						TTTCCTTGGCGCTGACTCATC	0.443																																						ENST00000261183.3																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(14)|ovary(2)	28						c.(136-138)Cgc>Tgc		oxysterol binding protein-like 8							159	138	145					12																	76844712		2203	4300	6503	SO:0001583	missense	114882				lipid transport		lipid binding	g.chr12:76844712G>A	AF392452	CCDS31862.1, CCDS41814.1	12q14	2013-01-10				ENSG00000091039		"Oxysterol binding proteins", "Pleckstrin homology (PH) domain containing"	16396	protein-coding gene	gene with protein product		606736				1735225, 17991739	Standard	NM_020841		Approved	OSBP10, ORP8, MST120, MSTP120	uc001sye.1	Q9BZF1		ENST00000261183.3:c.136C>T	12.37:g.76844712G>A	ENSP00000261183:p.Arg46Cys					OSBPL8_ENST00000393249.2_Missense_Mutation_p.R4C|OSBPL8_ENST00000393250.4_Missense_Mutation_p.R4C	p.R46C	NM_020841.4	NP_065892.1	Q9BZF1	OSBL8_HUMAN			4	615	-			46					A8K1T2|E9PE66|E9PE68|Q52LQ3|Q68D75|Q8WXP8|Q9P277	Missense_Mutation	SNP	ENST00000261183.3	37	c.136C>T	CCDS31862.1	.	.	.	.	.	.	.	.	.	.	G	17.50	3.406271	0.62288	.	.	ENSG00000091039	ENST00000393249;ENST00000261183;ENST00000446075;ENST00000393250;ENST00000438913;ENST00000547540;ENST00000548341;ENST00000553139;ENST00000549570;ENST00000551927;ENST00000547544	T;T;T;T;T;T	0.53857	1.32;2.61;1.32;2.61;2.61;0.6	5.66	4.76	0.60689	.	0.368655	0.29752	N	0.011290	T	0.42268	0.1195	N	0.19112	0.55	0.50813	D	0.999896	D	0.69078	0.997	B	0.44315	0.446	T	0.47420	-0.9119	10	0.66056	D	0.02	-3.9225	14.6966	0.69126	0.0:0.0:0.8536:0.1464	.	46	Q9BZF1	OSBL8_HUMAN	C	4;46;31;4;46;46;33;4;4;46;43	ENSP00000376939:R4C;ENSP00000261183:R46C;ENSP00000376940:R4C;ENSP00000450238:R46C;ENSP00000446886:R33C;ENSP00000449618:R4C	ENSP00000261183:R46C	R	-	1	0	OSBPL8	75368843	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	6.153000	0.71819	1.373000	0.46208	-0.182000	0.12963	CGC		0.443	OSBPL8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000406357.1	NM_020841		4	64	0	0	0	1	0	4	64					A	76844712	G	A	76844712	3	1	435	1	0	0	0	0	1	0	0	0	11283	1087	38	1	2617	1	OSBPL8	12	76844712	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	1116070	76844712	57007183	5804	26729											
ZDHHC17	23390	broad.mit.edu	37	chr12	77244672	77244672	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gacttctttgaatttcgatgCtgtggcctctttcgtcctgt	4	18	9	10	2	2	1	0	1	2	0	5	3	3	1	2	1	1	1	2	1	1	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:77244672C>T	ENST00000426126.2	+	17	2455	c.1806C>T	c.(1804-1806)tgC>tgT	p.C602C	ZDHHC17_ENST00000334822.5_Silent_p.C602C	NM_015336.2	NP_056151.2	Q8IUH5	ZDH17_HUMAN	zinc finger, DHHC-type containing 17	602					lipoprotein transport (GO:0042953)|magnesium ion transport (GO:0015693)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|protein palmitoylation (GO:0018345)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi-associated vesicle membrane (GO:0030660)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)	identical protein binding (GO:0042802)|magnesium ion transmembrane transporter activity (GO:0015095)|palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|signal transducer activity (GO:0004871)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|large_intestine(3)|liver(2)|lung(14)	23						AATTTCGATGCTGTGGCCTCT	0.408																																						ENST00000426126.2																			0				breast(2)|endometrium(2)|large_intestine(3)|liver(2)|lung(14)	23						c.(1804-1806)tgC>tgT		zinc finger, DHHC-type containing 17							157	157	157					12																	77244672		1902	4124	6026	SO:0001819	synonymous_variant	23390				lipoprotein transport|positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi-associated vesicle membrane|integral to membrane	magnesium ion transmembrane transporter activity|protein binding|protein-cysteine S-palmitoleyltransferase activity|signal transducer activity|zinc ion binding	g.chr12:77244672C>T	AB023163	CCDS44946.1	12q21.2	2013-01-10				ENSG00000186908		"Zinc fingers, DHHC-type", "Ankyrin repeat domain containing"	18412	protein-coding gene	gene with protein product		607799				9700202, 18794299	Standard	NM_015336		Approved	HIP14, HYPH, KIAA0946	uc001syk.1	Q8IUH5	OTTHUMG00000169917	ENST00000426126.2:c.1806C>T	12.37:g.77244672C>T						ZDHHC17_ENST00000334822.5_Silent_p.C602C	p.C602C	NM_015336.2	NP_056151.2	Q8IUH5	ZDH17_HUMAN			17	2455	+			602					B4DR39|O75407|Q7Z2I0|Q86W89|Q86YK0|Q9P088|Q9UPZ8	Silent	SNP	ENST00000426126.2	37	c.1806C>T	CCDS44946.1																																																																																				0.408	ZDHHC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406555.1	NM_015336		36	68	0	0	0	1	0	36	68					T	77244672	C	T	77244672	2	4	435	1	0	0	0	0	0	0	0	1	17604	805	28	3		3	ZDHHC17	12	77244672	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	399960	77244672	56607223	5805	26730											
NAV3	89795	broad.mit.edu	37	chr12	78362427	78362427	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttcagcagcgagttactcacGcttcccctccatcggaagcc	8	9	8	16	3	2	0	2	0	0	0	5	2	4	1	4	1	4	3	4	1	2	3	rs34739021		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:78362427G>A	ENST00000397909.2	+	5	789	c.616G>A	c.(616-618)Gct>Act	p.A206T	NAV3_ENST00000266692.7_Missense_Mutation_p.A206T|NAV3_ENST00000536525.2_Missense_Mutation_p.A206T|NAV3_ENST00000228327.6_Missense_Mutation_p.A206T			Q8IVL0	NAV3_HUMAN	neuron navigator 3	206						membrane (GO:0016020)|nuclear envelope (GO:0005635)				NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						AGTTACTCACGCTTCCCCTCC	0.473										HNSCC(70;0.22)																												ENST00000397909.2																			0				NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						c.(616-618)Gct>Act		neuron navigator 3		G	THR/ALA	0,3980		0,0,1990	66	70	69		616	-3.8	0	12	dbSNP_126	69	1,8351		0,1,4175	yes	missense	NAV3	NM_014903.4	58	0,1,6165	AA,AG,GG		0.012,0.0,0.0081	benign	206/2364	78362427	1,12331	1990	4176	6166	SO:0001583	missense	89795					nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity	g.chr12:78362427G>A	AB023155	CCDS41815.1, CCDS66432.1	12q14.3	2008-08-05				ENSG00000067798			15998	protein-coding gene	gene with protein product	"pore membrane and/or filament interacting like protein 1", "steerin 3"	611629				12079279, 12062803	Standard	XM_005269215		Approved	KIAA0938, POMFIL1	uc001syo.3	Q8IVL0	OTTHUMG00000170001	ENST00000397909.2:c.616G>A	12.37:g.78362427G>A	ENSP00000381007:p.Ala206Thr	HNSCC(70;0.22)				NAV3_ENST00000266692.7_Missense_Mutation_p.A206T|NAV3_ENST00000536525.2_Missense_Mutation_p.A206T|NAV3_ENST00000228327.6_Missense_Mutation_p.A206T	p.A206T			Q8IVL0	NAV3_HUMAN			5	789	+			206					Q8NFW7|Q9Y2E7	Missense_Mutation	SNP	ENST00000397909.2	37	c.616G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	1.423|1.423	-0.572458|-0.572458	0.03882|0.03882	0.0|0.0	1.2E-4|1.2E-4	ENSG00000067798|ENSG00000067798	ENST00000549464;ENST00000536525;ENST00000397909;ENST00000228327;ENST00000266692|ENST00000550503	T;T;T;T;T|.	0.59083|.	0.29;0.29;0.29;0.29;0.29|.	5.5|5.5	-3.8|-3.8	0.04307|0.04307	Calponin homology domain (1);|.	0.450146|.	0.15741|.	N|.	0.246933|.	T|T	0.09949|0.09949	0.0244|0.0244	N|N	0.08118|0.08118	0|0	0.09310|0.09310	N|N	0.999997|0.999997	B;B|.	0.02656|.	0.0;0.0|.	B;B|.	0.04013|.	0.0;0.001|.	T|T	0.28522|0.28522	-1.0041|-1.0041	10|5	0.16896|.	T|.	0.51|.	-0.8304|-0.8304	0.3723|0.3723	0.00381|0.00381	0.3287:0.1319:0.2327:0.3067|0.3287:0.1319:0.2327:0.3067	.|.	206;206|.	Q8IVL0;Q8IVL0-2|.	NAV3_HUMAN;.|.	T|H	206|52	ENSP00000446628:A206T;ENSP00000446132:A206T;ENSP00000381007:A206T;ENSP00000228327:A206T;ENSP00000266692:A206T|.	ENSP00000228327:A206T|.	A|R	+|+	1|2	0|0	NAV3|NAV3	76886558|76886558	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.019000|0.019000	0.09904|0.09904	-1.230000|-1.230000	0.02942|0.02942	-0.350000|-0.350000	0.08262|0.08262	-0.934000|-0.934000	0.02701|0.02701	GCT|CGC		0.473	NAV3-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000406812.1	NM_001024383		25	22	0	0	0	1	0	25	22					A	78362427	G	A	78362427	3	1	435	1	0	0	0	0	1	0	0	0	10185	1087	38	1	634	1	NAV3	12	78362427	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	1117755	78362427	55489468	5806	26731											
NAV3	89795	broad.mit.edu	37	chr12	78401186	78401186	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctcaacagcagcaacataGccacccgaataccgcgacag	14	3	7	17	3	1	0	1	0	0	0	1	2	1	0	4	0	6	2	4	0	5	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:78401186G>A	ENST00000397909.2	+	8	2041	c.1868G>A	c.(1867-1869)aGc>aAc	p.S623N	NAV3_ENST00000266692.7_Missense_Mutation_p.S623N|NAV3_ENST00000536525.2_Missense_Mutation_p.S623N|NAV3_ENST00000228327.6_Missense_Mutation_p.S623N			Q8IVL0	NAV3_HUMAN	neuron navigator 3	623						membrane (GO:0016020)|nuclear envelope (GO:0005635)				NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						CAGCAACATAGCCACCCGAAT	0.488										HNSCC(70;0.22)																												ENST00000397909.2																			0				NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						c.(1867-1869)aGc>aAc		neuron navigator 3							126	125	125					12																	78401186		2088	4207	6295	SO:0001583	missense	89795					nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity	g.chr12:78401186G>A	AB023155	CCDS41815.1, CCDS66432.1	12q14.3	2008-08-05				ENSG00000067798			15998	protein-coding gene	gene with protein product	"pore membrane and/or filament interacting like protein 1", "steerin 3"	611629				12079279, 12062803	Standard	XM_005269215		Approved	KIAA0938, POMFIL1	uc001syo.3	Q8IVL0	OTTHUMG00000170001	ENST00000397909.2:c.1868G>A	12.37:g.78401186G>A	ENSP00000381007:p.Ser623Asn	HNSCC(70;0.22)				NAV3_ENST00000266692.7_Missense_Mutation_p.S623N|NAV3_ENST00000536525.2_Missense_Mutation_p.S623N|NAV3_ENST00000228327.6_Missense_Mutation_p.S623N	p.S623N			Q8IVL0	NAV3_HUMAN			8	2041	+			623					Q8NFW7|Q9Y2E7	Missense_Mutation	SNP	ENST00000397909.2	37	c.1868G>A		.	.	.	.	.	.	.	.	.	.	G	5.647	0.304046	0.10678	.	.	ENSG00000067798	ENST00000549464;ENST00000536525;ENST00000397909;ENST00000228327;ENST00000266692	T;T;T;T;T	0.13089	2.62;2.62;2.62;2.62;2.62	4.84	3.94	0.45596	.	0.279042	0.24676	U	0.036502	T	0.09335	0.0230	N	0.24115	0.695	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.06405	0.001;0.002	T	0.12372	-1.0550	10	0.12430	T	0.62	-3.4815	13.6283	0.62181	0.0:0.2967:0.7033:0.0	.	623;623	Q8IVL0;Q8IVL0-2	NAV3_HUMAN;.	N	623	ENSP00000446628:S623N;ENSP00000446132:S623N;ENSP00000381007:S623N;ENSP00000228327:S623N;ENSP00000266692:S623N	ENSP00000228327:S623N	S	+	2	0	NAV3	76925317	1.000000	0.71417	0.994000	0.49952	0.657000	0.38888	2.315000	0.43752	1.019000	0.39547	-0.315000	0.08773	AGC		0.488	NAV3-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000406812.1	NM_001024383		5	59	0	0	0	1	0	5	59					A	78401186	G	A	78401186	3	1	435	1	0	0	0	0	1	0	0	0	10185	971	34	3	1898	3	NAV3	12	78401186	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	38759	78401186	55450709	5807	26732											
NAV3	89795	broad.mit.edu	37	chr12	78579429	78579429	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aactggacataaagatggccGcagtgtgaaaattatagtct	15	10	10	6	1	1	2	0	1	1	1	1	3	1	3	1	2	1	1	1	2	7	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:78579429G>A	ENST00000397909.2	+	31	5914	c.5741G>A	c.(5740-5742)cGc>cAc	p.R1914H	NAV3_ENST00000266692.7_Missense_Mutation_p.R1715H|NAV3_ENST00000536525.2_Missense_Mutation_p.R1892H|NAV3_ENST00000228327.6_Missense_Mutation_p.R1892H|NAV3_ENST00000552300.1_3'UTR			Q8IVL0	NAV3_HUMAN	neuron navigator 3	1914						membrane (GO:0016020)|nuclear envelope (GO:0005635)		p.R1892H(1)		NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						AAAGATGGCCGCAGTGTGAAA	0.343										HNSCC(70;0.22)																												ENST00000397909.2																			1	Substitution - Missense(1)	p.R1892H(1)	endometrium(1)	NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						c.(5740-5742)cGc>cAc		neuron navigator 3							132	121	125					12																	78579429		1882	4117	5999	SO:0001583	missense	89795					nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity	g.chr12:78579429G>A	AB023155	CCDS41815.1, CCDS66432.1	12q14.3	2008-08-05				ENSG00000067798			15998	protein-coding gene	gene with protein product	"pore membrane and/or filament interacting like protein 1", "steerin 3"	611629				12079279, 12062803	Standard	XM_005269215		Approved	KIAA0938, POMFIL1	uc001syo.3	Q8IVL0	OTTHUMG00000170001	ENST00000397909.2:c.5741G>A	12.37:g.78579429G>A	ENSP00000381007:p.Arg1914His	HNSCC(70;0.22)				NAV3_ENST00000552300.1_3'UTR|NAV3_ENST00000266692.7_Missense_Mutation_p.R1715H|NAV3_ENST00000536525.2_Missense_Mutation_p.R1892H|NAV3_ENST00000228327.6_Missense_Mutation_p.R1892H	p.R1914H			Q8IVL0	NAV3_HUMAN			31	5914	+			1914					Q8NFW7|Q9Y2E7	Missense_Mutation	SNP	ENST00000397909.2	37	c.5741G>A		.	.	.	.	.	.	.	.	.	.	G	25.4	4.637551	0.87760	.	.	ENSG00000067798	ENST00000536525;ENST00000397909;ENST00000228327;ENST00000266692;ENST00000378640;ENST00000550788	T;T;T;T;T	0.29397	1.63;1.61;1.62;1.57;2.45	5.81	5.81	0.92471	.	0.177347	0.26883	U	0.022003	T	0.23289	0.0563	L	0.41710	1.295	0.80722	D	1	B;B;B;B	0.19445	0.036;0.003;0.012;0.017	B;B;B;B	0.13407	0.009;0.005;0.002;0.007	T	0.06607	-1.0817	10	0.13853	T	0.58	-13.5347	11.065	0.47970	0.1116:0.0:0.8884:0.0	.	1892;1715;1914;1892	E7EUC6;Q8IVL0-3;Q8IVL0;Q8IVL0-2	.;.;NAV3_HUMAN;.	H	1892;1914;1892;1715;506;514	ENSP00000446132:R1892H;ENSP00000381007:R1914H;ENSP00000228327:R1892H;ENSP00000266692:R1715H;ENSP00000448303:R514H	ENSP00000228327:R1892H	R	+	2	0	NAV3	77103560	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.373000	0.79623	2.746000	0.94184	0.655000	0.94253	CGC		0.343	NAV3-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000406812.1	NM_001024383		33	59	0	0	0	1	0	33	59					A	78579429	G	A	78579429	3	1	435	1	0	0	0	0	1	0	0	0	10185	1087	38	1	5793	1	NAV3	12	78579429	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	178243	78579429	55272466	5808	26733											
C12orf64	283310	broad.mit.edu	37	chr12	80699368	80699368	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tactttagaacaagctatcaGgattgtgtggaaactttgac	13	13	9	6	0	1	2	1	1	0	1	1	4	1	4	0	2	4	1	0	2	6	6			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:80699368G>A	ENST00000547103.1	+	28	3205	c.3199G>A	c.(3199-3201)Gga>Aga	p.G1067R	OTOGL_ENST00000458043.2_Missense_Mutation_p.G1067R			Q3ZCN5	OTOGL_HUMAN	otogelin-like	1067	VWFD 3. {ECO:0000255|PROSITE- ProRule:PRU00580}.				L-arabinose metabolic process (GO:0046373)	extracellular region (GO:0005576)	alpha-L-arabinofuranosidase activity (GO:0046556)			breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						CAAGCTATCAGGATTGTGTGG	0.328																																						ENST00000458043.2																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						c.(3199-3201)Gga>Aga		otogelin-like							84	80	82					12																	80699368		1830	4081	5911	SO:0001583	missense	283310							g.chr12:80699368G>A	AK096852		12q21.31	2011-02-11	2011-02-11	2011-02-11	ENSG00000165899	ENSG00000165899			26901	protein-coding gene	gene with protein product		614925	"chromosome 12 open reading frame 64"	C12orf64			Standard	NM_173591		Approved	FLJ90579	uc001szd.3	Q3ZCN5	OTTHUMG00000150509	ENST00000547103.1:c.3199G>A	12.37:g.80699368G>A	ENSP00000447211:p.Gly1067Arg					OTOGL_ENST00000547103.1_Missense_Mutation_p.G1067R	p.G1067R	NM_173591.3	NP_775862.3					28	3205	+								F8W0C3|Q495U8|Q8N8G5|Q8NC28	Missense_Mutation	SNP	ENST00000547103.1	37	c.3199G>A		.	.	.	.	.	.	.	.	.	.	G	18.62	3.663610	0.67700	.	.	ENSG00000165899	ENST00000547103;ENST00000458043	D;D	0.98732	-5.1;-5.1	5.89	5.89	0.94794	.	.	.	.	.	D	0.99495	0.9820	H	0.96398	3.815	0.80722	D	1	.	.	.	.	.	.	D	0.98346	1.0541	7	0.87932	D	0	.	20.2576	0.98430	0.0:0.0:1.0:0.0	.	.	.	.	R	1067	ENSP00000447211:G1067R;ENSP00000400895:G1067R	ENSP00000400895:G1067R	G	+	1	0	OTOGL	79223499	1.000000	0.71417	0.960000	0.40013	0.220000	0.24768	8.947000	0.93000	2.783000	0.95769	0.655000	0.94253	GGA		0.328	OTOGL-001	NOVEL	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000407438.1	NM_173591		6	9	0	0	0	1	0	6	9					A	80699368	G	A	80699368	3	1	435	1	0	0	0	0	1	0	0	0	1707	1001	35	3	3309	3	C12orf64	12	80699368	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	2119939	80699368	53152527	5809	26734											
C12orf64	283310	broad.mit.edu	37	chr12	80762088	80762088	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggaacatcagttgtatacgCggtatgtttcatggagagta	11	13	12	5	2	2	1	2	0	0	1	2	3	2	2	0	3	2	5	0	3	5	6	rs574033095		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:80762088C>T	ENST00000547103.1	+	54	6557	c.6551C>T	c.(6550-6552)gCg>gTg	p.A2184V	OTOGL_ENST00000458043.2_Splice_Site_p.A2196V|OTOGL_ENST00000546620.1_Splice_Site_p.A215V			Q3ZCN5	OTOGL_HUMAN	otogelin-like	2184					L-arabinose metabolic process (GO:0046373)	extracellular region (GO:0005576)	alpha-L-arabinofuranosidase activity (GO:0046556)	p.A2196V(2)|p.A561V(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						GTTGTATACGCGGTATGTTTC	0.428																																						ENST00000458043.2																			3	Substitution - Missense(3)	p.A2196V(2)|p.A561V(1)	lung(2)|prostate(1)	breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						c.e54+1		otogelin-like							119	104	109					12																	80762088		2203	4300	6503	SO:0001630	splice_region_variant	283310							g.chr12:80762088C>T	AK096852		12q21.31	2011-02-11	2011-02-11	2011-02-11	ENSG00000165899	ENSG00000165899			26901	protein-coding gene	gene with protein product		614925	"chromosome 12 open reading frame 64"	C12orf64			Standard	NM_173591		Approved	FLJ90579	uc001szd.3	Q3ZCN5	OTTHUMG00000150509	ENST00000547103.1:c.6552+1C>T	12.37:g.80762088C>T						OTOGL_ENST00000547103.1_Splice_Site_p.A2184_splice|OTOGL_ENST00000546620.1_Splice_Site_p.A215_splice	p.A2196_splice	NM_173591.3	NP_775862.3					54	6593	+								F8W0C3|Q495U8|Q8N8G5|Q8NC28	Splice_Site	SNP	ENST00000547103.1	37	c.6588_splice		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	8.068|8.068	0.769665|0.769665	0.15983|0.15983	.|.	.|.	ENSG00000165899|ENSG00000165899	ENST00000547103;ENST00000458043;ENST00000546620;ENST00000550182|ENST00000298820	T;T;T;T|.	0.44482|.	2.3;2.3;2.21;0.92|.	5.47|5.47	0.318|0.318	0.15867|0.15867	.|.	0.311579|.	0.28448|.	N|.	0.015308|.	T|T	0.23451|0.23451	0.0567|0.0567	L|L	0.34521|0.34521	1.04|1.04	0.21762|0.21762	N|N	0.999556|0.999556	B|.	0.06786|.	0.001|.	B|.	0.06405|.	0.002|.	T|T	0.24012|0.24012	-1.0172|-1.0172	10|5	0.29301|.	T|.	0.29|.	.|.	1.9303|1.9303	0.03325|0.03325	0.4712:0.2719:0.1355:0.1214|0.4712:0.2719:0.1355:0.1214	.|.	561|.	Q3ZCN5|.	OTOGL_HUMAN|.	V|W	2184;2196;215;213|604	ENSP00000447211:A2184V;ENSP00000400895:A2196V;ENSP00000449094:A215V;ENSP00000449641:A213V|.	ENSP00000400895:A2196V|.	A|R	+|+	2|1	0|2	OTOGL|OTOGL	79286219|79286219	1.000000|1.000000	0.71417|0.71417	0.996000|0.996000	0.52242|0.52242	0.196000|0.196000	0.23810|0.23810	1.060000|1.060000	0.30530|0.30530	-0.189000|-0.189000	0.10482|0.10482	-1.622000|-1.622000	0.00790|0.00790	GCG|CGG		0.428	OTOGL-001	NOVEL	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000407438.1	NM_173591	Missense_Mutation	3	5	0	0	0	1	0	3	5					T	80762088	C	T	80762088	5	4	435	1	0	0	0	0	0	0	1	0	1707	782	27	1	6801	1	C12orf64	12	80762088	Splice_Site	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	62720	80762088	53089807	5810	26735											
MYF5	4617	broad.mit.edu	37	chr12	81111197	81111197	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ccaaccccaaccagaggctgCccaaggtggagatcctcagg	11	4	11	15	0	1	2	1	0	0	2	2	3	2	2	6	4	3	1	6	4	3	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:81111197C>T	ENST00000228644.3	+	1	507	c.355C>T	c.(355-357)Ccc>Tcc	p.P119S		NM_005593.2	NP_005584.2	P13349	MYF5_HUMAN	myogenic factor 5	119	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				camera-type eye development (GO:0043010)|cartilage condensation (GO:0001502)|embryonic skeletal system morphogenesis (GO:0048704)|extracellular matrix organization (GO:0030198)|muscle cell differentiation (GO:0042692)|muscle cell fate commitment (GO:0042693)|muscle organ development (GO:0007517)|muscle tissue morphogenesis (GO:0060415)|ossification (GO:0001503)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell-matrix adhesion (GO:0001952)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|skeletal muscle cell differentiation (GO:0035914)|skeletal muscle tissue development (GO:0007519)|somitogenesis (GO:0001756)|transcription from RNA polymerase II promoter (GO:0006366)	nucleoplasm (GO:0005654)	protein heterodimerization activity (GO:0046982)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(8)|lung(15)|ovary(2)|pancreas(1)	30						CCAGAGGCTGCCCAAGGTGGA	0.587																																						ENST00000228644.3																			0				central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(8)|lung(15)|ovary(2)|pancreas(1)	30						c.(355-357)Ccc>Tcc		myogenic factor 5							80	77	78					12																	81111197		2203	4300	6503	SO:0001583	missense	4617				muscle cell fate commitment|positive regulation of muscle cell differentiation|skeletal muscle tissue development	nucleoplasm	DNA binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity	g.chr12:81111197C>T		CCDS9020.1	12q21	2013-05-21			ENSG00000111049	ENSG00000111049		"Basic helix-loop-helix proteins"	7565	protein-coding gene	gene with protein product		159990				8978788, 12105204	Standard	NM_005593		Approved	bHLHc2	uc001szg.2	P13349	OTTHUMG00000170166	ENST00000228644.3:c.355C>T	12.37:g.81111197C>T	ENSP00000228644:p.Pro119Ser						p.P119S	NM_005593.2	NP_005584.2	P13349	MYF5_HUMAN			1	507	+			119			Helix-loop-helix motif.		Q6ISR9	Missense_Mutation	SNP	ENST00000228644.3	37	c.355C>T	CCDS9020.1	.	.	.	.	.	.	.	.	.	.	C	31	5.101529	0.94245	.	.	ENSG00000111049	ENST00000228644	D	0.96200	-3.94	6.06	6.06	0.98353	Helix-loop-helix DNA-binding (5);	0.000000	0.85682	D	0.000000	D	0.95392	0.8504	N	0.12611	0.24	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.95585	0.8650	10	0.46703	T	0.11	-8.3696	20.6208	0.99490	0.0:1.0:0.0:0.0	.	119	P13349	MYF5_HUMAN	S	119	ENSP00000228644:P119S	ENSP00000228644:P119S	P	+	1	0	MYF5	79635328	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.487000	0.81328	2.882000	0.98803	0.655000	0.94253	CCC		0.587	MYF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407757.1	NM_005593		23	28	0	0	0	1	0	23	28					T	81111197	C	T	81111197	3	4	435	1	0	0	0	0	1	0	0	0	10027	739	26	3	357	3	MYF5	12	81111197	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	349109	81111197	52740698	5811	26736											
LRRIQ1	84125	broad.mit.edu	37	chr12	85547499	85547499	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agaccagtagaaagagtttgCtaaaatctgaaaaagaaaaa	22	7	8	4	0	1	5	0	1	1	4	1	5	1	5	1	0	1	3	1	0	8	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:85547499C>T	ENST00000393217.2	+	22	4661	c.4600C>T	c.(4600-4602)Cta>Tta	p.L1534L		NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	1534										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		AAAGAGTTTGCTAAAATCTGA	0.303																																						ENST00000393217.2																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83						c.(4600-4602)Cta>Tta		leucine-rich repeats and IQ motif containing 1							23	20	21					12																	85547499		1775	4042	5817	SO:0001819	synonymous_variant	84125							g.chr12:85547499C>T	AK022365	CCDS41816.1	12q21	2008-02-05			ENSG00000133640	ENSG00000133640			25708	protein-coding gene	gene with protein product						11347906	Standard	NM_001079910		Approved	FLJ12303, KIAA1801	uc001tac.3	Q96JM4	OTTHUMG00000166185	ENST00000393217.2:c.4600C>T	12.37:g.85547499C>T							p.L1534L	NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN		GBM - Glioblastoma multiforme(134;0.212)	22	4661	+			1534					Q567P4|Q9BS17|Q9HA36	Silent	SNP	ENST00000393217.2	37	c.4600C>T	CCDS41816.1																																																																																				0.303	LRRIQ1-004	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388249.2	NM_032165		10	23	0	0	0	1	0	10	23					T	85547499	C	T	85547499	2	4	435	1	0	0	0	0	0	0	0	1	9029	796	28	3		3	LRRIQ1	12	85547499	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	4436302	85547499	48304396	5812	26737											
RASSF9	9182	broad.mit.edu	37	chr12	86198613	86198613	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gagtaaagggaggaatctccCcattgctactgggaacctca	12	8	11	10	0	2	0	1	0	1	0	3	4	2	3	3	3	3	2	3	3	5	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:86198613C>T	ENST00000361228.3	-	2	1543	c.1175G>A	c.(1174-1176)gGg>gAg	p.G392E		NM_005447.3	NP_005438.2	O75901	RASF9_HUMAN	Ras association (RalGDS/AF-6) domain family (N-terminal) member 9	392					endosomal transport (GO:0016197)|protein targeting (GO:0006605)|signal transduction (GO:0007165)	cytosol (GO:0005829)|endosome (GO:0005768)|trans-Golgi network transport vesicle membrane (GO:0012510)	transporter activity (GO:0005215)			endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						AGGAATCTCCCCATTGCTACT	0.443																																						ENST00000361228.3																			0				endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						c.(1174-1176)gGg>gAg		Ras association (RalGDS/AF-6) domain family (N-terminal) member 9							180	173	175					12																	86198613		1923	4144	6067	SO:0001583	missense	9182				endosome transport|protein targeting|signal transduction	cytosol|endosome|trans-Golgi network transport vesicle membrane	protein binding|transporter activity	g.chr12:86198613C>T		CCDS44950.1	12q21.31	2008-02-22	2008-02-22	2008-02-22		ENSG00000198774			15739	protein-coding gene	gene with protein product		610383	"peptidylglycine alpha-amidating monooxygenase COOH-terminal interactor"	PAMCI		9837933, 18272789	Standard	NM_005447		Approved	P-CIP1	uc001taf.1	O75901	OTTHUMG00000169831	ENST00000361228.3:c.1175G>A	12.37:g.86198613C>T	ENSP00000354884:p.Gly392Glu						p.G392E	NM_005447.3	NP_005438.2	O75901	RASF9_HUMAN			2	1543	-			392					B3KMQ4|Q8N5U8	Missense_Mutation	SNP	ENST00000361228.3	37	c.1175G>A	CCDS44950.1	.	.	.	.	.	.	.	.	.	.	C	0	-2.858911	0.00065	.	.	ENSG00000198774	ENST00000361228	T	0.42131	0.98	5.1	-3.83	0.04269	.	1.150710	0.06500	N	0.736124	T	0.17619	0.0423	N	0.14661	0.345	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.22836	-1.0205	10	0.07813	T	0.8	-18.8667	2.5294	0.04699	0.1468:0.33:0.0904:0.4328	.	392	O75901	RASF9_HUMAN	E	392	ENSP00000354884:G392E	ENSP00000354884:G392E	G	-	2	0	RASSF9	84722744	0.000000	0.05858	0.000000	0.03702	0.017000	0.09413	-2.012000	0.01451	-0.340000	0.08388	-0.145000	0.13849	GGG		0.443	RASSF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406109.1			6	126	0	0	0	1	0	6	126					T	86198613	C	T	86198613	3	4	435	1	0	0	0	0	1	0	0	0	13093	623	22	3	136	3	RASSF9	12	86198613	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	651114	86198613	47653282	5813	26738											
RASSF9	9182	broad.mit.edu	37	chr12	86198984	86198984	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tatttcagtcgttcttccagCtgttcaattccatcactttc	7	18	4	12	1	4	0	3	0	1	0	8	0	6	0	2	0	1	3	2	0	2	7			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:86198984C>T	ENST00000361228.3	-	2	1172	c.804G>A	c.(802-804)caG>caA	p.Q268Q		NM_005447.3	NP_005438.2	O75901	RASF9_HUMAN	Ras association (RalGDS/AF-6) domain family (N-terminal) member 9	268					endosomal transport (GO:0016197)|protein targeting (GO:0006605)|signal transduction (GO:0007165)	cytosol (GO:0005829)|endosome (GO:0005768)|trans-Golgi network transport vesicle membrane (GO:0012510)	transporter activity (GO:0005215)			endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						GTTCTTCCAGCTGTTCAATTC	0.378																																						ENST00000361228.3																			0				endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						c.(802-804)caG>caA		Ras association (RalGDS/AF-6) domain family (N-terminal) member 9							111	106	108					12																	86198984		1890	4114	6004	SO:0001819	synonymous_variant	9182				endosome transport|protein targeting|signal transduction	cytosol|endosome|trans-Golgi network transport vesicle membrane	protein binding|transporter activity	g.chr12:86198984C>T		CCDS44950.1	12q21.31	2008-02-22	2008-02-22	2008-02-22		ENSG00000198774			15739	protein-coding gene	gene with protein product		610383	"peptidylglycine alpha-amidating monooxygenase COOH-terminal interactor"	PAMCI		9837933, 18272789	Standard	NM_005447		Approved	P-CIP1	uc001taf.1	O75901	OTTHUMG00000169831	ENST00000361228.3:c.804G>A	12.37:g.86198984C>T							p.Q268Q	NM_005447.3	NP_005438.2	O75901	RASF9_HUMAN			2	1172	-			268					B3KMQ4|Q8N5U8	Silent	SNP	ENST00000361228.3	37	c.804G>A	CCDS44950.1																																																																																				0.378	RASSF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406109.1			10	50	0	0	0	1	0	10	50					T	86198984	C	T	86198984	2	4	435	1	0	0	0	0	0	0	0	1	13093	796	28	3		3	RASSF9	12	86198984	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	371	86198984	47652911	5814	26739											
RASSF9	9182	broad.mit.edu	37	chr12	86199651	86199651	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgacatcagcagaggtggtgCgtttagtcagcccacagaca	11	8	12	10	1	2	3	2	1	0	2	2	3	2	3	1	2	3	2	1	2	1	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:86199651C>T	ENST00000361228.3	-	2	505	c.137G>A	c.(136-138)cGc>cAc	p.R46H		NM_005447.3	NP_005438.2	O75901	RASF9_HUMAN	Ras association (RalGDS/AF-6) domain family (N-terminal) member 9	46	Ras-associating. {ECO:0000255|PROSITE- ProRule:PRU00166}.				endosomal transport (GO:0016197)|protein targeting (GO:0006605)|signal transduction (GO:0007165)	cytosol (GO:0005829)|endosome (GO:0005768)|trans-Golgi network transport vesicle membrane (GO:0012510)	transporter activity (GO:0005215)			endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						AGAGGTGGTGCGTTTAGTCAG	0.458																																						ENST00000361228.3																			0				endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						c.(136-138)cGc>cAc		Ras association (RalGDS/AF-6) domain family (N-terminal) member 9							119	118	118					12																	86199651		1939	4168	6107	SO:0001583	missense	9182				endosome transport|protein targeting|signal transduction	cytosol|endosome|trans-Golgi network transport vesicle membrane	protein binding|transporter activity	g.chr12:86199651C>T		CCDS44950.1	12q21.31	2008-02-22	2008-02-22	2008-02-22		ENSG00000198774			15739	protein-coding gene	gene with protein product		610383	"peptidylglycine alpha-amidating monooxygenase COOH-terminal interactor"	PAMCI		9837933, 18272789	Standard	NM_005447		Approved	P-CIP1	uc001taf.1	O75901	OTTHUMG00000169831	ENST00000361228.3:c.137G>A	12.37:g.86199651C>T	ENSP00000354884:p.Arg46His						p.R46H	NM_005447.3	NP_005438.2	O75901	RASF9_HUMAN			2	505	-			46			Ras-associating.		B3KMQ4|Q8N5U8	Missense_Mutation	SNP	ENST00000361228.3	37	c.137G>A	CCDS44950.1	.	.	.	.	.	.	.	.	.	.	C	9.902	1.207261	0.22205	.	.	ENSG00000198774	ENST00000361228	T	0.52754	0.65	4.82	3.93	0.45458	Ras-association (2);	0.069647	0.64402	D	0.000010	T	0.34919	0.0914	L	0.35288	1.05	0.40062	D	0.975908	B	0.12630	0.006	B	0.12156	0.007	T	0.15896	-1.0421	10	0.39692	T	0.17	-18.6986	9.6378	0.39819	0.0:0.8393:0.0:0.1607	.	46	O75901	RASF9_HUMAN	H	46	ENSP00000354884:R46H	ENSP00000354884:R46H	R	-	2	0	RASSF9	84723782	1.000000	0.71417	1.000000	0.80357	0.870000	0.49936	0.986000	0.29590	1.172000	0.42781	0.514000	0.50259	CGC		0.458	RASSF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406109.1			21	35	0	0	0	1	0	21	35					T	86199651	C	T	86199651	3	4	435	1	0	0	0	0	1	0	0	0	13093	768	27	1	1174	1	RASSF9	12	86199651	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	667	86199651	47652244	5815	26740											
CEP290	80184	broad.mit.edu	37	chr12	88479887	88479887	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctccttaattttccttagagCgatctcaagttgatttggaa	10	16	7	8	1	1	2	1	1	1	1	4	4	3	3	2	1	1	1	2	1	4	6	rs375111436		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:88479887C>T	ENST00000552810.1	-	34	4709	c.4366G>A	c.(4366-4368)Gct>Act	p.A1456T	CEP290_ENST00000547691.2_Missense_Mutation_p.A516T|CEP290_ENST00000309041.7_Missense_Mutation_p.A1458T|CEP290_ENST00000397838.3_Missense_Mutation_p.A516T	NM_025114.3	NP_079390.3	O15078	CE290_HUMAN	centrosomal protein 290kDa	1456					cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|establishment or maintenance of cell polarity (GO:0007163)|eye photoreceptor cell development (GO:0042462)|G2/M transition of mitotic cell cycle (GO:0000086)|hindbrain development (GO:0030902)|mitotic cell cycle (GO:0000278)|otic vesicle formation (GO:0030916)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of transcription, DNA-templated (GO:0045893)|pronephros development (GO:0048793)|protein transport (GO:0015031)|regulation of cAMP metabolic process (GO:0030814)|regulation of establishment of protein localization (GO:0070201)|retina development in camera-type eye (GO:0060041)	centriolar satellite (GO:0034451)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|photoreceptor connecting cilium (GO:0032391)|protein complex (GO:0043234)|TCTN-B9D complex (GO:0036038)				breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|liver(1)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	73						TTCCTTAGAGCGATCTCAAGT	0.348																																						ENST00000552810.1																			0				breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|liver(1)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	73						c.(4366-4368)Gct>Act		centrosomal protein 290kDa							128	111	116					12																	88479887		1808	4067	5875	SO:0001583	missense	80184				cilium assembly|eye photoreceptor cell development|G2/M transition of mitotic cell cycle|hindbrain development|otic vesicle formation|positive regulation of transcription, DNA-dependent|pronephros development|protein transport	cell surface|centrosome|cytosol|nucleus|photoreceptor connecting cilium	protein binding	g.chr12:88479887C>T	AB002371	CCDS55858.1	12q21.33	2014-09-17				ENSG00000198707			29021	protein-coding gene	gene with protein product	"Joubert syndrome 5", "nephrocystin-6", "cancer/testis antigen 87", "POC3 centriolar protein homolog (Chlamydomonas)", "Meckel syndrome, type 4"	610142				15474516, 16682973, 16632484	Standard	NM_025114		Approved	KIAA0373, FLJ13615, 3H11Ag, rd16, NPHP6, JBTS5, SLSN6, LCA10, MKS4, BBS14, CT87, POC3	uc001tar.3	O15078		ENST00000552810.1:c.4366G>A	12.37:g.88479887C>T	ENSP00000448012:p.Ala1456Thr					CEP290_ENST00000547691.2_Missense_Mutation_p.A516T|CEP290_ENST00000397838.3_Missense_Mutation_p.A516T|CEP290_ENST00000309041.7_Missense_Mutation_p.A1458T	p.A1456T	NM_025114.3	NP_079390.3	O15078	CE290_HUMAN			34	4709	-			1456					Q1PSK5|Q66GS8|Q9H2G6|Q9H6Q7|Q9H8I0	Missense_Mutation	SNP	ENST00000552810.1	37	c.4366G>A	CCDS55858.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.139066	0.77775	.	.	ENSG00000198707	ENST00000547691;ENST00000552810;ENST00000309041;ENST00000397838	T;T;T;T	0.68765	0.05;-0.35;-0.35;0.05	5.78	5.78	0.91487	.	0.094954	0.64402	D	0.000001	T	0.76601	0.4010	M	0.68952	2.095	0.54753	D	0.999983	D	0.71674	0.998	P	0.58620	0.842	T	0.70008	-0.4990	10	0.11182	T	0.66	.	20.0165	0.97478	0.0:1.0:0.0:0.0	.	1456	O15078	CE290_HUMAN	T	516;1456;1458;516	ENSP00000446905:A516T;ENSP00000448012:A1456T;ENSP00000308021:A1458T;ENSP00000380938:A516T	ENSP00000308021:A1458T	A	-	1	0	CEP290	87004018	1.000000	0.71417	0.997000	0.53966	0.066000	0.16364	5.144000	0.64832	2.736000	0.93811	0.557000	0.71058	GCT		0.348	CEP290-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000406344.1	NM_025114		10	19	0	0	0	1	0	10	19					T	88479887	C	T	88479887	3	4	435	1	0	0	0	0	1	0	0	0	3253	768	27	1	3157	1	CEP290	12	88479887	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	2280236	88479887	45372008	5816	26741											
ATP2B1	490	broad.mit.edu	37	chr12	90036015	90036015	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttctaatataattaaagtgAcatcttgtaatgcttcccat	13	17	4	7	0	2	1	0	1	2	0	3	1	3	1	1	0	1	2	1	0	6	8			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:90036015A>G	ENST00000428670.3	-	3	782	c.326T>C	c.(325-327)gTc>gCc	p.V109A	ATP2B1_ENST00000261173.2_Missense_Mutation_p.V109A|ATP2B1_ENST00000348959.3_Missense_Mutation_p.V109A|ATP2B1_ENST00000359142.3_Missense_Mutation_p.V109A			P20020	AT2B1_HUMAN	ATPase, Ca++ transporting, plasma membrane 1	109					blood coagulation (GO:0007596)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	45						AATTAAAGTGACATCTTGTAA	0.358																																						ENST00000428670.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	45						c.(325-327)gTc>gCc		ATPase, Ca++ transporting, plasma membrane 1							175	203	193					12																	90036015		2203	4299	6502	SO:0001583	missense	490				ATP biosynthetic process|platelet activation	integral to plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding	g.chr12:90036015A>G	J04027	CCDS9035.1, CCDS41817.1	12q21.33	2010-04-20			ENSG00000070961	ENSG00000070961	3.6.3.8	"ATPases / P-type"	814	protein-coding gene	gene with protein product	"plasma membrane calcium-transporting ATPase 1"	108731				1674727	Standard	NM_001682		Approved	PMCA1	uc001tbh.3	P20020		ENST00000428670.3:c.326T>C	12.37:g.90036015A>G	ENSP00000392043:p.Val109Ala					ATP2B1_ENST00000261173.2_Missense_Mutation_p.V109A|ATP2B1_ENST00000359142.3_Missense_Mutation_p.V109A|ATP2B1_ENST00000348959.3_Missense_Mutation_p.V109A	p.V109A			P20020	AT2B1_HUMAN			3	782	-			109					Q12992|Q12993|Q13819|Q13820|Q13821|Q16504|Q93082	Missense_Mutation	SNP	ENST00000428670.3	37	c.326T>C	CCDS9035.1	.	.	.	.	.	.	.	.	.	.	A	25.0	4.590588	0.86851	.	.	ENSG00000070961	ENST00000261173;ENST00000348959;ENST00000359142;ENST00000428670	T;T;T;T	0.78707	-1.2;-1.2;-1.2;-1.2	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	T	0.80449	0.4625	L	0.55017	1.72	0.80722	D	1	P;B	0.50443	0.935;0.304	P;B	0.50708	0.648;0.289	T	0.79822	-0.1641	9	.	.	.	-26.8486	16.0785	0.80982	1.0:0.0:0.0:0.0	.	109;109	P20020-3;P20020-2	.;.	A	109	ENSP00000261173:V109A;ENSP00000343599:V109A;ENSP00000352054:V109A;ENSP00000392043:V109A	.	V	-	2	0	ATP2B1	88560146	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	9.287000	0.95975	2.200000	0.70718	0.379000	0.24179	GTC		0.358	ATP2B1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406653.1	NM_001682		50	162	0	0	0	1	0	50	162					G	90036015	A	G	90036015	3	3	435	1	0	0	0	0	1	0	0	0	1139	275	10	4	3570	4	ATP2B1	12	90036015	Missense_Mutation	SNP	A	TCGA-XK-AAIW-01A-11D-A41K-08	1556128	90036015	43815880	5817	26742											
ATP2B1	490	broad.mit.edu	37	chr12	90049658	90049658	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actgagttgtttgccatgtcGcccattacaagtataatata	12	14	7	8	1	0	1	0	1	0	0	1	1	0	1	2	0	2	3	2	0	6	7	rs199899576		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:90049658G>A	ENST00000428670.3	-	2	462	c.6C>T	c.(4-6)ggC>ggT	p.G2G	ATP2B1_ENST00000261173.2_Silent_p.G2G|ATP2B1_ENST00000348959.3_Silent_p.G2G|ATP2B1_ENST00000359142.3_Silent_p.G2G			P20020	AT2B1_HUMAN	ATPase, Ca++ transporting, plasma membrane 1	2					blood coagulation (GO:0007596)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|metal ion binding (GO:0046872)	p.G2G(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	45						TTGCCATGTCGCCCATTACAA	0.358																																						ENST00000428670.3																			1	Substitution - coding silent(1)	p.G2G(1)	large_intestine(1)	breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	45						c.(4-6)ggC>ggT		ATPase, Ca++ transporting, plasma membrane 1		G	,	0,4406		0,0,2203	72	78	76		6,6	2.8	1	12		76	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous,coding-synonymous	ATP2B1	NM_001001323.1,NM_001682.2	,	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	,	2/1177,2/1221	90049658	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	490				ATP biosynthetic process|platelet activation	integral to plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding	g.chr12:90049658G>A	J04027	CCDS9035.1, CCDS41817.1	12q21.33	2010-04-20			ENSG00000070961	ENSG00000070961	3.6.3.8	"ATPases / P-type"	814	protein-coding gene	gene with protein product	"plasma membrane calcium-transporting ATPase 1"	108731				1674727	Standard	NM_001682		Approved	PMCA1	uc001tbh.3	P20020		ENST00000428670.3:c.6C>T	12.37:g.90049658G>A						ATP2B1_ENST00000261173.2_Silent_p.G2G|ATP2B1_ENST00000359142.3_Silent_p.G2G|ATP2B1_ENST00000348959.3_Silent_p.G2G	p.G2G			P20020	AT2B1_HUMAN			2	462	-			2					Q12992|Q12993|Q13819|Q13820|Q13821|Q16504|Q93082	Silent	SNP	ENST00000428670.3	37	c.6C>T	CCDS9035.1																																																																																				0.358	ATP2B1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406653.1	NM_001682		20	26	0	0	0	1	0	20	26					A	90049658	G	A	90049658	2	1	435	1	0	0	0	0	0	0	0	1	1139	1074	38	1		1	ATP2B1	12	90049658	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	13643	90049658	43802237	5818	26743											
LUM	4060	broad.mit.edu	37	chr12	91502031	91502031	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttccaggtattccactatcAgccagttcgttgtgagataa	10	14	8	9	1	1	1	1	1	0	1	4	2	3	1	3	1	1	3	3	1	3	7			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:91502031A>G	ENST00000266718.4	-	2	1180	c.726T>C	c.(724-726)gcT>gcC	p.A242A	LUM_ENST00000548071.1_5'UTR	NM_002345.3	NP_002336.1	P51884	LUM_HUMAN	lumican	242					carbohydrate metabolic process (GO:0005975)|cartilage development (GO:0051216)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to growth factor (GO:0070848)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|visual perception (GO:0007601)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrillar collagen trimer (GO:0005583)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)	collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	24						TTCCACTATCAGCCAGTTCGT	0.393																																						ENST00000266718.4																			0				central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	24						c.(724-726)gcT>gcC		lumican							155	147	150					12																	91502031		2203	4300	6503	SO:0001819	synonymous_variant	4060				collagen fibril organization|visual perception	extracellular space|fibrillar collagen	collagen binding|extracellular matrix structural constituent	g.chr12:91502031A>G	BT006707	CCDS9038.1	12q21.33	2014-06-13			ENSG00000139329			"Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"	6724	protein-coding gene	gene with protein product	"lumican proteoglycan"	600616		LDC		7558030	Standard	NM_002345		Approved	SLRR2D	uc001tbm.3	P51884	OTTHUMG00000170074	ENST00000266718.4:c.726T>C	12.37:g.91502031A>G						LUM_ENST00000548071.1_5'UTR	p.A242A	NM_002345.3	NP_002336.1	P51884	LUM_HUMAN			2	1180	-			242					B2R6R5|Q96QM7	Silent	SNP	ENST00000266718.4	37	c.726T>C	CCDS9038.1																																																																																				0.393	LUM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407150.2	NM_002345		10	71	0	0	0	1	0	10	71					G	91502031	A	G	91502031	2	3	435	1	0	0	0	0	0	0	0	1	9085	175	7	4		4	LUM	12	91502031	Silent	SNP	A	TCGA-XK-AAIW-01A-11D-A41K-08	1452373	91502031	42349864	5819	26744											
EEA1	8411	broad.mit.edu	37	chr12	93195471	93195471	+	Frame_Shift_Del	DEL	T	T	-																															atgctttaattctttgcaagTtttttccttaaaaaaaatga																								rs368982292		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:93195471delT	ENST00000322349.8	-	20	2941	c.2677delA	c.(2677-2679)actfs	p.T893fs		NM_003566.3	NP_003557	Q15075	EEA1_HUMAN	early endosome antigen 1	893					early endosome to late endosome transport (GO:0045022)|endocytosis (GO:0006897)|synaptic vesicle to endosome fusion (GO:0016189)|vesicle fusion (GO:0006906)	axonal spine (GO:0044308)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|extrinsic component of plasma membrane (GO:0019897)|membrane (GO:0016020)|recycling endosome (GO:0055037)|serine-pyruvate aminotransferase complex (GO:0005969)	1-phosphatidylinositol binding (GO:0005545)|calmodulin binding (GO:0005516)|GTP-dependent protein binding (GO:0030742)|protein homodimerization activity (GO:0042803)|zinc ion binding (GO:0008270)			endometrium(5)|kidney(5)|large_intestine(11)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	36						TCTTTGCAAGTTTTTTCCTTA	0.284																																						ENST00000322349.8																			0				endometrium(5)|kidney(5)|large_intestine(11)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	36						c.(2677-2679)ctfs		early endosome antigen 1							64	63	63					12																	93195471		2201	4293	6494	SO:0001589	frameshift_variant	8411				early endosome to late endosome transport|synaptic vesicle to endosome fusion|vesicle fusion	cytosol|early endosome membrane|extrinsic to plasma membrane|membrane fraction	1-phosphatidylinositol binding|calmodulin binding|GTP-dependent protein binding|protein homodimerization activity|zinc ion binding	g.chr12:93195471delT	L40157	CCDS31874.1	12q22	2007-02-23	2007-02-23			ENSG00000102189		"Zinc fingers, FYVE domain containing"	3185	protein-coding gene	gene with protein product		605070	"early endosome antigen 1, 162kD"			7768953, 9697774	Standard	NM_003566		Approved	ZFYVE2	uc001tck.3	Q15075	OTTHUMG00000170110	ENST00000322349.8:c.2677delA	12.37:g.93195471delT	ENSP00000317955:p.Thr893fs						p.T893fs	NM_003566.3	NP_003557.2	Q15075	EEA1_HUMAN			20	2941	-			893					Q14221	Frame_Shift_Del	DEL	ENST00000322349.8	37	c.2677delA	CCDS31874.1																																																																																				0.284	EEA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407304.1	NM_003566		10	16						10	16	---	---	---	---	-	93195471	T	-	93195471	7	5	435	1	0	1	0	1	0	0	0	0	4921	1725	60	0	1598	0	EEA1	12	93195471	Frame_Shift_Del	DEL	T	TCGA-XK-AAIW-01A-11D-A41K-08	1693440	93195471	40656424	5820	26745											
EEA1	8411	broad.mit.edu	37	chr12	93221731	93221731	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgagttgtaaatcagccactTgttgttctttatccatcaac	10	16	6	9	0	3	1	2	1	1	0	4	1	4	1	2	0	2	4	2	0	4	7			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:93221731T>C	ENST00000322349.8	-	12	1625	c.1361A>G	c.(1360-1362)cAa>cGa	p.Q454R		NM_003566.3	NP_003557	Q15075	EEA1_HUMAN	early endosome antigen 1	454	Gln/Glu/Lys-rich.				early endosome to late endosome transport (GO:0045022)|endocytosis (GO:0006897)|synaptic vesicle to endosome fusion (GO:0016189)|vesicle fusion (GO:0006906)	axonal spine (GO:0044308)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|extrinsic component of plasma membrane (GO:0019897)|membrane (GO:0016020)|recycling endosome (GO:0055037)|serine-pyruvate aminotransferase complex (GO:0005969)	1-phosphatidylinositol binding (GO:0005545)|calmodulin binding (GO:0005516)|GTP-dependent protein binding (GO:0030742)|protein homodimerization activity (GO:0042803)|zinc ion binding (GO:0008270)			endometrium(5)|kidney(5)|large_intestine(11)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	36						ATCAGCCACTTGTTGTTCTTT	0.408																																						ENST00000322349.8																			0				endometrium(5)|kidney(5)|large_intestine(11)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	36						c.(1360-1362)cAa>cGa		early endosome antigen 1							182	170	174					12																	93221731		2203	4300	6503	SO:0001583	missense	8411				early endosome to late endosome transport|synaptic vesicle to endosome fusion|vesicle fusion	cytosol|early endosome membrane|extrinsic to plasma membrane|membrane fraction	1-phosphatidylinositol binding|calmodulin binding|GTP-dependent protein binding|protein homodimerization activity|zinc ion binding	g.chr12:93221731T>C	L40157	CCDS31874.1	12q22	2007-02-23	2007-02-23			ENSG00000102189		"Zinc fingers, FYVE domain containing"	3185	protein-coding gene	gene with protein product		605070	"early endosome antigen 1, 162kD"			7768953, 9697774	Standard	NM_003566		Approved	ZFYVE2	uc001tck.3	Q15075	OTTHUMG00000170110	ENST00000322349.8:c.1361A>G	12.37:g.93221731T>C	ENSP00000317955:p.Gln454Arg						p.Q454R	NM_003566.3	NP_003557.2	Q15075	EEA1_HUMAN			12	1625	-			454			Gln/Glu/Lys-rich.		Q14221	Missense_Mutation	SNP	ENST00000322349.8	37	c.1361A>G	CCDS31874.1	.	.	.	.	.	.	.	.	.	.	T	12.75	2.031428	0.35797	.	.	ENSG00000102189	ENST00000322349	T	0.76448	-1.02	5.63	4.42	0.53409	.	0.549745	0.15396	N	0.264579	T	0.62865	0.2463	L	0.32530	0.975	0.58432	D	0.999994	P	0.39391	0.671	B	0.32211	0.142	T	0.59873	-0.7372	10	0.18276	T	0.48	.	11.6036	0.51017	0.1333:0.0:0.0:0.8667	.	454	Q15075	EEA1_HUMAN	R	454	ENSP00000317955:Q454R	ENSP00000317955:Q454R	Q	-	2	0	EEA1	91745862	1.000000	0.71417	0.973000	0.42090	0.591000	0.36615	5.027000	0.64109	2.149000	0.67028	0.477000	0.44152	CAA		0.408	EEA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407304.1	NM_003566		44	57	0	0	0	1	0	44	57					C	93221731	T	C	93221731	3	2	435	1	0	0	0	0	1	0	0	0	4921	1812	63	4	2946	4	EEA1	12	93221731	Missense_Mutation	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	26260	93221731	40630164	5821	26746											
TMCC3	57458	broad.mit.edu	37	chr12	94975842	94975842	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cccctggcatgcccgatttgCtgctctccatgcaatggggg	5	10	12	14	1	1	0	0	0	1	0	2	1	1	0	4	3	4	4	4	3	1	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:94975842C>T	ENST00000261226.4	-	2	682	c.551G>A	c.(550-552)aGc>aAc	p.S184N	TMCC3_ENST00000551457.1_Missense_Mutation_p.S153N	NM_020698.2	NP_065749	Q9ULS5	TMCC3_HUMAN	transmembrane and coiled-coil domain family 3	184						integral component of membrane (GO:0016021)				NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	29						GCCCGATTTGCTGCTCTCCAT	0.498																																						ENST00000261226.4																			0				NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	29						c.(550-552)aGc>aAc		transmembrane and coiled-coil domain family 3							87	93	91					12																	94975842		2203	4300	6503	SO:0001583	missense	57458					integral to membrane		g.chr12:94975842C>T	AB032971	CCDS31877.1, CCDS73506.1	12q22	2005-01-21	2005-07-13			ENSG00000057704		"Transmembrane and coiled-coil domain containing"	29199	protein-coding gene	gene with protein product			"transmembrane and coiled-coil domains 3"			10574461	Standard	XM_005269039		Approved	KIAA1145	uc001tdj.2	Q9ULS5	OTTHUMG00000170225	ENST00000261226.4:c.551G>A	12.37:g.94975842C>T	ENSP00000261226:p.Ser184Asn					TMCC3_ENST00000551457.1_Missense_Mutation_p.S153N	p.S184N	NM_020698.2	NP_065749.2	Q9ULS5	TMCC3_HUMAN			2	682	-			184					Q8IWB2	Missense_Mutation	SNP	ENST00000261226.4	37	c.551G>A	CCDS31877.1	.	.	.	.	.	.	.	.	.	.	C	11.37	1.618318	0.28801	.	.	ENSG00000057704	ENST00000261226;ENST00000551457	T;T	0.44482	0.92;0.92	5.74	4.83	0.62350	.	0.429601	0.30920	N	0.008620	T	0.24967	0.0606	N	0.12182	0.205	0.24222	N	0.995436	B	0.11235	0.004	B	0.13407	0.009	T	0.13442	-1.0509	10	0.23891	T	0.37	-2.5071	12.1284	0.53930	0.0:0.8119:0.1215:0.0666	.	184	Q9ULS5	TMCC3_HUMAN	N	184;153	ENSP00000261226:S184N;ENSP00000449888:S153N	ENSP00000261226:S184N	S	-	2	0	TMCC3	93499973	0.102000	0.21896	0.198000	0.23420	0.657000	0.38888	1.438000	0.35002	1.527000	0.49086	0.561000	0.74099	AGC		0.498	TMCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408113.1	NM_020698		14	88	0	0	0	1	0	14	88					T	94975842	C	T	94975842	3	4	435	1	0	0	0	0	1	0	0	0	15991	797	28	3	894	3	TMCC3	12	94975842	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	1754111	94975842	38876053	5822	26747											
TMCC3	57458	broad.mit.edu	37	chr12	94975899	94975899	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cgtgggcatctttcaaagagCgatgtatatccttcaggtgg	9	12	12	8	2	3	1	2	0	1	1	4	2	4	1	1	3	1	2	1	3	3	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:94975899C>T	ENST00000261226.4	-	2	625	c.494G>A	c.(493-495)cGc>cAc	p.R165H	TMCC3_ENST00000551457.1_Missense_Mutation_p.R134H	NM_020698.2	NP_065749	Q9ULS5	TMCC3_HUMAN	transmembrane and coiled-coil domain family 3	165						integral component of membrane (GO:0016021)				NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	29						TTTCAAAGAGCGATGTATATC	0.498																																						ENST00000261226.4																			0				NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	29						c.(493-495)cGc>cAc		transmembrane and coiled-coil domain family 3							98	101	100					12																	94975899		2203	4300	6503	SO:0001583	missense	57458					integral to membrane		g.chr12:94975899C>T	AB032971	CCDS31877.1, CCDS73506.1	12q22	2005-01-21	2005-07-13			ENSG00000057704		"Transmembrane and coiled-coil domain containing"	29199	protein-coding gene	gene with protein product			"transmembrane and coiled-coil domains 3"			10574461	Standard	XM_005269039		Approved	KIAA1145	uc001tdj.2	Q9ULS5	OTTHUMG00000170225	ENST00000261226.4:c.494G>A	12.37:g.94975899C>T	ENSP00000261226:p.Arg165His					TMCC3_ENST00000551457.1_Missense_Mutation_p.R134H	p.R165H	NM_020698.2	NP_065749.2	Q9ULS5	TMCC3_HUMAN			2	625	-			165					Q8IWB2	Missense_Mutation	SNP	ENST00000261226.4	37	c.494G>A	CCDS31877.1	.	.	.	.	.	.	.	.	.	.	C	11.32	1.604831	0.28623	.	.	ENSG00000057704	ENST00000261226;ENST00000551457	T;T	0.42131	0.98;0.98	4.65	-1.83	0.07833	.	0.525520	0.23828	N	0.044165	T	0.17577	0.0422	N	0.08118	0	0.22354	N	0.999172	B	0.02656	0.0	B	0.01281	0.0	T	0.09862	-1.0655	10	0.40728	T	0.16	-12.1157	6.176	0.20444	0.0:0.1768:0.2476:0.5756	.	165	Q9ULS5	TMCC3_HUMAN	H	165;134	ENSP00000261226:R165H;ENSP00000449888:R134H	ENSP00000261226:R165H	R	-	2	0	TMCC3	93500030	0.765000	0.28485	0.216000	0.23742	0.796000	0.44982	0.439000	0.21575	-0.305000	0.08831	-0.258000	0.10820	CGC		0.498	TMCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408113.1	NM_020698		6	85	0	0	0	1	0	6	85					T	94975899	C	T	94975899	3	4	435	1	0	0	0	0	1	0	0	0	15991	768	27	1	951	1	TMCC3	12	94975899	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	57	94975899	38875996	5823	26748											
TMCC3	57458	broad.mit.edu	37	chr12	94976111	94976111	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcactagtttcagatactcCgcaacattcccatcgcgcga	10	11	6	14	4	2	1	2	0	0	1	5	2	4	1	2	0	2	2	2	0	3	5	rs140629808	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:94976111C>T	ENST00000261226.4	-	2	413	c.282G>A	c.(280-282)gcG>gcA	p.A94A	TMCC3_ENST00000551457.1_Silent_p.A63A	NM_020698.2	NP_065749	Q9ULS5	TMCC3_HUMAN	transmembrane and coiled-coil domain family 3	94						integral component of membrane (GO:0016021)				NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	29						TCAGATACTCCGCAACATTCC	0.458													C|||	2	0.000399361	8e-04	0	5008	,	,		19661	0		0.001	False		,,,				2504	0					ENST00000261226.4																			0				NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	29						c.(280-282)gcG>gcA		transmembrane and coiled-coil domain family 3		C		11,4395	17.9+/-39.9	0,11,2192	188	173	178		282	-11.2	0	12	dbSNP_134	178	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	TMCC3	NM_020698.2		0,12,6491	TT,TC,CC		0.0116,0.2497,0.0923		94/478	94976111	12,12994	2203	4300	6503	SO:0001819	synonymous_variant	57458					integral to membrane		g.chr12:94976111C>T	AB032971	CCDS31877.1, CCDS73506.1	12q22	2005-01-21	2005-07-13			ENSG00000057704		"Transmembrane and coiled-coil domain containing"	29199	protein-coding gene	gene with protein product			"transmembrane and coiled-coil domains 3"			10574461	Standard	XM_005269039		Approved	KIAA1145	uc001tdj.2	Q9ULS5	OTTHUMG00000170225	ENST00000261226.4:c.282G>A	12.37:g.94976111C>T						TMCC3_ENST00000551457.1_Silent_p.A63A	p.A94A	NM_020698.2	NP_065749.2	Q9ULS5	TMCC3_HUMAN			2	413	-			94					Q8IWB2	Silent	SNP	ENST00000261226.4	37	c.282G>A	CCDS31877.1																																																																																				0.458	TMCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408113.1	NM_020698		44	83	0	0	0	1	0	44	83					T	94976111	C	T	94976111	2	4	435	1	0	0	0	0	0	0	0	1	15991	639	23	2		2	TMCC3	12	94976111	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	212	94976111	38875784	5824	26749											
NR2C1	7181	broad.mit.edu	37	chr12	95456330	95456330	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gagtggtaaaaaataactggTtgacacctgctgcatctgga	13	10	11	7	0	1	1	0	1	1	0	1	3	1	2	1	3	3	4	1	3	4	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:95456330T>C	ENST00000333003.5	-	3	569	c.239A>G	c.(238-240)aAc>aGc	p.N80S	NR2C1_ENST00000330677.7_Missense_Mutation_p.N80S|NR2C1_ENST00000545833.1_5'UTR|NR2C1_ENST00000393101.3_Missense_Mutation_p.N80S	NM_003297.3	NP_003288.2	P13056	NR2C1_HUMAN	nuclear receptor subfamily 2, group C, member 1	80	Required for interaction with KAT2B. {ECO:0000250}.				gene expression (GO:0010467)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of retinoic acid receptor signaling pathway (GO:0048386)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)|PML body (GO:0016605)	DNA binding (GO:0003677)|receptor activity (GO:0004872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)	13						AAATAACTGGTTGACACCTGC	0.398																																						ENST00000333003.5																			0				endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)	13						c.(238-240)aAc>aGc		nuclear receptor subfamily 2, group C, member 1							77	70	72					12																	95456330		2203	4300	6503	SO:0001583	missense	7181				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	PML body	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	g.chr12:95456330T>C	M29960	CCDS9051.1, CCDS41821.1, CCDS44953.1	12q22	2013-01-16				ENSG00000120798		"Nuclear hormone receptors"	7971	protein-coding gene	gene with protein product		601529		TR2		2597158	Standard	NM_001032287		Approved	TR2-11	uc001tdm.5	P13056	OTTHUMG00000170131	ENST00000333003.5:c.239A>G	12.37:g.95456330T>C	ENSP00000333275:p.Asn80Ser					NR2C1_ENST00000393101.3_Missense_Mutation_p.N80S|NR2C1_ENST00000545833.1_5'UTR|NR2C1_ENST00000330677.7_Missense_Mutation_p.N80S	p.N80S	NM_003297.3	NP_003288.2	P13056	NR2C1_HUMAN			3	569	-			80			Required for interaction with KAT2B (By similarity).		A8K5K4|Q15625|Q15626	Missense_Mutation	SNP	ENST00000333003.5	37	c.239A>G	CCDS9051.1	.	.	.	.	.	.	.	.	.	.	T	14.96	2.691966	0.48097	.	.	ENSG00000120798	ENST00000333003;ENST00000393101;ENST00000330677	D;D;D	0.91068	-2.78;-2.49;-2.5	5.58	4.43	0.53597	.	0.039495	0.85682	D	0.000000	D	0.91981	0.7460	L	0.48362	1.52	0.53005	D	0.999967	D;B;P;B	0.69078	0.997;0.031;0.577;0.005	D;B;B;B	0.70716	0.97;0.021;0.121;0.004	D	0.88725	0.3232	10	0.15066	T	0.55	.	13.0733	0.59074	0.0:0.0:0.1343:0.8657	.	80;80;80;80	B6ZGT7;P13056-3;P13056-2;P13056	.;.;.;NR2C1_HUMAN	S	80	ENSP00000333275:N80S;ENSP00000376813:N80S;ENSP00000328843:N80S	ENSP00000328843:N80S	N	-	2	0	NR2C1	93980461	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.893000	0.69798	1.028000	0.39785	0.533000	0.62120	AAC		0.398	NR2C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407565.2	NM_003297		12	17	0	0	0	1	0	12	17					C	95456330	T	C	95456330	3	2	435	1	0	0	0	0	1	0	0	0	10622	1725	60	4	1698	4	NR2C1	12	95456330	Missense_Mutation	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	480219	95456330	38395565	5825	26750											
C12orf63	144535	broad.mit.edu	37	chr12	97078927	97078927	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	accaacagtcattcacctccGggtttcaaagactacagtga	13	9	7	12	1	3	2	3	1	0	1	4	2	4	2	3	1	2	1	3	1	3	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:97078927G>A	ENST00000524981.4	+	42	5948	c.5925G>A	c.(5923-5925)ccG>ccA	p.P1975P				Q96N23	CL055_HUMAN		120																	ATTCACCTCCGGGTTTCAAAG	0.473																																						ENST00000524981.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(26)|ovary(1)|prostate(2)|skin(11)|stomach(2)	54						c.(1276-1278)ccG>ccA									99	88	92					12																	97078927		2203	4300	6503	SO:0001819	synonymous_variant	0							g.chr12:97078927G>A																												ENST00000524981.4:c.5925G>A	12.37:g.97078927G>A							p.P426P			Q6ZTY8	CL063_HUMAN			9	1278	+			400						Silent	SNP	ENST00000524981.4	37	c.1278G>A																																																																																					0.473	C12orf55-003	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf	protein_coding	protein_coding	OTTHUMT00000395046.4			19	29	0	0	0	1	0	19	29					A	97078927	G	A	97078927	2	1	435	1	0	0	0	0	0	0	0	1	1706	1103	39	2		2	C12orf63	12	97078927	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	1622597	97078927	36772968	5826	26751											
C12orf63	144535	broad.mit.edu	37	chr12	97158977	97158977	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gctctggatcttttgtcttcGtatacagattatttgcttgg	6	19	9	7	1	3	1	0	0	3	1	4	2	3	2	0	2	2	3	0	2	3	8	rs368289532		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:97158977G>A	ENST00000524981.4	+	60	8285	c.8262G>A	c.(8260-8262)tcG>tcA	p.S2754S				Q96N23	CL055_HUMAN		0																	TTTTGTCTTCGTATACAGATT	0.289													G|||	1	0.000199681	0	0	5008	,	,		16331	0		0.001	False		,,,				2504	0					ENST00000524981.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(26)|ovary(1)|prostate(2)|skin(11)|stomach(2)	54						c.(3613-3615)tcG>tcA				G		0,4404		0,0,2202	75	69	71		1455	-6.1	0.9	12		71	1,8597	1.2+/-3.3	0,1,4298	no	coding-synonymous	C12orf63	XM_003118942.2		0,1,6500	AA,AG,GG		0.0116,0.0,0.0077		485/796	97158977	1,13001	2202	4299	6501	SO:0001819	synonymous_variant	0							g.chr12:97158977G>A																												ENST00000524981.4:c.8262G>A	12.37:g.97158977G>A							p.S1205S			Q6ZTY8	CL063_HUMAN			27	3615	+			1179						Silent	SNP	ENST00000524981.4	37	c.3615G>A																																																																																					0.289	C12orf55-003	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf	protein_coding	protein_coding	OTTHUMT00000395046.4			30	51	0	0	0	1	0	30	51					A	97158977	G	A	97158977	2	1	435	1	0	0	0	0	0	0	0	1	1706	1132	40	1		1	C12orf63	12	97158977	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	80050	97158977	36692918	5827	26752											
IKBIP	121457	broad.mit.edu	37	chr12	99020056	99020056	+	Intron	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cattcttcaactttgggttcGtagtcggaaagtttattagt	9	17	9	6	2	2	0	1	0	1	0	4	1	2	1	0	2	1	3	0	2	5	8			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:99020056G>A	ENST00000342502.2	-	2	709				IKBIP_ENST00000299157.4_Silent_p.Y262Y|IKBIP_ENST00000420861.1_Intron|IKBIP_ENST00000393042.3_Intron	NM_201612.2	NP_963906.1	Q70UQ0	IKIP_HUMAN	IKBKB interacting protein						response to X-ray (GO:0010165)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				NS(1)|kidney(1)|large_intestine(1)|lung(1)|prostate(2)	6						CTTTGGGTTCGTAGTCGGAAA	0.408																																						ENST00000299157.4																			0				NS(1)|kidney(1)|large_intestine(1)|lung(1)|prostate(2)	6						c.(784-786)taC>taT		IKBKB interacting protein							126	125	125					12																	99020056		2203	4300	6503	SO:0001627	intron_variant	121457				induction of apoptosis|response to X-ray	endoplasmic reticulum membrane|integral to membrane	protein binding	g.chr12:99020056G>A	AJ539425	CCDS9067.1, CCDS9068.1, CCDS41822.1	12q23.1	2010-02-17			ENSG00000166130	ENSG00000166130			26430	protein-coding gene	gene with protein product	"I kappa B kinase interacting protein"	609861				15389287	Standard	NM_153687		Approved	FLJ31051, IKIP	uc001tfx.4	Q70UQ0	OTTHUMG00000170213	ENST00000342502.2:c.297+8017C>T	12.37:g.99020056G>A						IKBIP_ENST00000420861.1_Intron|IKBIP_ENST00000393042.3_Intron|IKBIP_ENST00000342502.2_Intron	p.Y262Y	NM_153687.3	NP_710154.1	Q70UQ0	IKIP_HUMAN			3	1159	-			266					Q6ZWH4|Q70UP9|Q86V91|Q96ND2	Silent	SNP	ENST00000342502.2	37	c.786C>T	CCDS9067.1																																																																																				0.408	IKBIP-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000408003.2	NM_153687		40	61	0	0	0	1	0	40	61					A	99020056	G	A	99020056	1	1	435	0	1	0	0	0	0	0	0	0	7609	1140	40	1		1	IKBIP	12	99020056	Intron	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	1861079	99020056	34831839	5828	26753											
APAF1	317	broad.mit.edu	37	chr12	99056478	99056478	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaatatgtagtccctgtggaGagttccttaggaaaggaaaa	15	10	11	5	0	0	1	0	0	0	1	2	4	2	3	2	3	0	2	2	3	7	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:99056478G>T	ENST00000551964.1	+	7	1585	c.849G>T	c.(847-849)gaG>gaT	p.E283D	APAF1_ENST00000550527.1_Missense_Mutation_p.E272D|APAF1_ENST00000339433.3_Missense_Mutation_p.E283D|APAF1_ENST00000549007.1_Missense_Mutation_p.E283D|APAF1_ENST00000552268.1_Missense_Mutation_p.E283D|APAF1_ENST00000357310.1_Missense_Mutation_p.E283D|APAF1_ENST00000333991.1_Missense_Mutation_p.E283D|APAF1_ENST00000547045.1_Missense_Mutation_p.E283D|APAF1_ENST00000359972.2_Missense_Mutation_p.E272D	NM_181861.1	NP_863651.1	O14727	APAF_HUMAN	apoptotic peptidase activating factor 1	283	NB-ARC.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of cysteine-type endopeptidase activity involved in apoptotic process by cytochrome c (GO:0008635)|apoptotic process (GO:0006915)|forebrain development (GO:0030900)|intrinsic apoptotic signaling pathway (GO:0097193)|nervous system development (GO:0007399)|neural tube closure (GO:0001843)|neuron apoptotic process (GO:0051402)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|regulation of apoptotic DNA fragmentation (GO:1902510)|regulation of apoptotic process (GO:0042981)|response to G1 DNA damage checkpoint signaling (GO:0072432)	apoptosome (GO:0043293)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|nucleotide binding (GO:0000166)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(1)	42					Adenosine triphosphate(DB00171)	TCCCTGTGGAGAGTTCCTTAG	0.294																																						ENST00000357310.1																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(1)	42						c.(847-849)gaG>gaT		apoptotic peptidase activating factor 1	Adenosine triphosphate(DB00171)						58	59	59					12																	99056478		2201	4299	6500	SO:0001583	missense	317				activation of caspase activity by cytochrome c|defense response|induction of apoptosis by intracellular signals|nervous system development	cytosol|Golgi apparatus|nucleus	ATP binding|caspase activator activity|protein binding	g.chr12:99056478G>T	AF013263	CCDS9069.1, CCDS9070.1, CCDS9071.1, CCDS55862.1, CCDS55863.1	12q23	2013-01-10	2006-10-23			ENSG00000120868		"WD repeat domain containing"	576	protein-coding gene	gene with protein product		602233	"apoptotic protease activating factor", "apoptotic peptidase activating factor"			9267021, 10702682	Standard	NM_181861		Approved	CED4, APAF-1	uc001tfz.3	O14727	OTTHUMG00000170214	ENST00000551964.1:c.849G>T	12.37:g.99056478G>T	ENSP00000448165:p.Glu283Asp					APAF1_ENST00000551964.1_Missense_Mutation_p.E283D|APAF1_ENST00000359972.2_Missense_Mutation_p.E272D|APAF1_ENST00000552268.1_Missense_Mutation_p.E283D|APAF1_ENST00000339433.3_Missense_Mutation_p.E283D|APAF1_ENST00000550527.1_Missense_Mutation_p.E272D|APAF1_ENST00000547045.1_Missense_Mutation_p.E283D|APAF1_ENST00000549007.1_Missense_Mutation_p.E283D|APAF1_ENST00000333991.1_Missense_Mutation_p.E283D	p.E283D	NM_181868.1	NP_863658.1	O14727	APAF_HUMAN			7	1426	+			283			NB-ARC.		B2RMX8|O43297|Q7Z438|Q9BXZ6|Q9UBZ5|Q9UGN8|Q9UGN9|Q9UGP0|Q9UJ58|Q9UJ59|Q9UJ60|Q9UJ61|Q9UJ62|Q9UJ63|Q9UJ64|Q9UJ65|Q9UJ66|Q9UJ67|Q9UNC9	Missense_Mutation	SNP	ENST00000551964.1	37	c.849G>T	CCDS9069.1	.	.	.	.	.	.	.	.	.	.	G	16.00	2.999894	0.54147	.	.	ENSG00000120868	ENST00000551964;ENST00000359972;ENST00000357310;ENST00000339433;ENST00000333991;ENST00000552268;ENST00000550527;ENST00000547045;ENST00000549007	T;T;T;T;T;T;T;T;T	0.78595	-1.19;-1.19;-1.19;-1.19;-1.19;-1.19;-1.19;-1.19;-1.19	5.56	4.68	0.58851	NB-ARC (1);	0.135296	0.64402	D	0.000003	T	0.76884	0.4050	L	0.38175	1.15	0.42683	D	0.993556	B;B;B;B;P	0.39003	0.008;0.016;0.008;0.027;0.654	B;B;B;B;P	0.56960	0.019;0.04;0.019;0.074;0.81	T	0.72347	-0.4321	10	0.21540	T	0.41	-3.0323	5.0611	0.14557	0.2096:0.1694:0.621:0.0	.	283;283;272;283;272	O14727-6;O14727-4;O14727-3;O14727;O14727-2	.;.;.;APAF_HUMAN;.	D	283;272;283;283;283;283;272;283;283	ENSP00000448165:E283D;ENSP00000353059:E272D;ENSP00000349862:E283D;ENSP00000341830:E283D;ENSP00000334558:E283D;ENSP00000448826:E283D;ENSP00000448449:E272D;ENSP00000449791:E283D;ENSP00000448161:E283D	ENSP00000334558:E283D	E	+	3	2	APAF1	97580609	1.000000	0.71417	1.000000	0.80357	0.905000	0.53344	0.928000	0.28831	1.346000	0.45694	-0.136000	0.14681	GAG		0.294	APAF1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000408006.1	NM_181861.1		15	27	1	0	6.72482e-11	1	7.20828e-11	15	27					T	99056478	G	T	99056478	3	4	435	1	0	0	0	0	1	0	0	0	755	933	33	5	871	5	APAF1	12	99056478	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	36422	99056478	34795417	5829	26754											
ANKS1B	56899	broad.mit.edu	37	chr12	99837486	99837486	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttacaatatttttgagggCagtatcaggggatggaggtg	10	14	14	3	0	1	1	1	1	0	0	1	3	1	3	0	5	1	2	0	5	4	6			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:99837486C>T	ENST00000547776.2	-	11	1539	c.1540G>A	c.(1540-1542)Gcc>Acc	p.A514T	ANKS1B_ENST00000547010.1_Missense_Mutation_p.A94T|ANKS1B_ENST00000329257.7_Missense_Mutation_p.A514T	NM_152788.4	NP_690001.3	Q7Z6G8	ANS1B_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1B	514						cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)	ephrin receptor binding (GO:0046875)	p.A514P(1)		NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(15)|lung(38)|pancreas(1)|prostate(2)|skin(1)	70		all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209)		OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06)		TTTTTGAGGGCAGTATCAGGG	0.428																																						ENST00000547776.2																			1	Substitution - Missense(1)	p.A514P(1)	lung(1)	NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(15)|lung(38)|pancreas(1)|prostate(2)|skin(1)	70						c.(1540-1542)Gcc>Acc		ankyrin repeat and sterile alpha motif domain containing 1B							168	163	165					12																	99837486		1891	4115	6006	SO:0001583	missense	56899					Cajal body|cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane		g.chr12:99837486C>T	AF145204	CCDS55864.1, CCDS55865.1, CCDS55866.1, CCDS55867.1, CCDS55868.1, CCDS55869.1, CCDS55870.1, CCDS55871.1, CCDS55872.1	12q23.1	2013-01-10						"Sterile alpha motif (SAM) domain containing", "Ankyrin repeat domain containing"	24600	protein-coding gene	gene with protein product		607815				10490826, 12415113	Standard	NM_020140		Approved	EB-1, AIDA-1, cajalin-2, ANKS2	uc001tge.2	Q7Z6G8		ENST00000547776.2:c.1540G>A	12.37:g.99837486C>T	ENSP00000449629:p.Ala514Thr					ANKS1B_ENST00000547010.1_Missense_Mutation_p.A94T|ANKS1B_ENST00000329257.7_Missense_Mutation_p.A514T	p.A514T	NM_152788.4	NP_690001.3	Q7Z6G8	ANS1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06)	11	1539	-		all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209)	514					A5PKY5|A7E259|A8K153|A8MSN4|B4DFP6|B4DH98|F8VPM3|F8VZR9|F8WC27|Q5XLJ0|Q6IVB5|Q6NUS4|Q7Z6G6|Q7Z6G7|Q8TAP3|Q9NRX7|Q9Y5K9	Missense_Mutation	SNP	ENST00000547776.2	37	c.1540G>A	CCDS55872.1	.	.	.	.	.	.	.	.	.	.	C	34	5.407638	0.96051	.	.	ENSG00000185046	ENST00000547776;ENST00000547010;ENST00000329257;ENST00000538702;ENST00000549866	T;T;T;T	0.61980	0.87;0.06;0.87;0.69	6.04	6.04	0.98038	.	0.064506	0.64402	D	0.000011	T	0.73241	0.3562	L	0.40543	1.245	0.80722	D	1	D;D;D	0.89917	1.0;0.998;0.993	D;D;D	0.87578	0.998;0.995;0.984	T	0.68723	-0.5333	9	.	.	.	-8.5843	18.7754	0.91910	0.0:1.0:0.0:0.0	.	480;94;514	F8VVQ4;Q7Z6G8-6;Q7Z6G8	.;.;ANS1B_HUMAN	T	514;94;514;93;480	ENSP00000449629:A514T;ENSP00000448512:A94T;ENSP00000331381:A514T;ENSP00000449894:A480T	.	A	-	1	0	ANKS1B	98361617	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.577000	0.74027	2.873000	0.98535	0.563000	0.77884	GCC		0.428	ANKS1B-003	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000408421.3	NM_020140		7	42	0	0	0	1	0	7	42					T	99837486	C	T	99837486	3	4	435	1	0	0	0	0	1	0	0	0	689	710	25	3	2558	3	ANKS1B	12	99837486	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	781008	99837486	34014409	5830	26755											
ANKS1B	56899	broad.mit.edu	37	chr12	100219106	100219106	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cttatgtccatttaaggctgCgtggtgtaaagcagtgtaac	10	13	11	7	1	0	0	0	0	0	0	1	0	1	0	1	2	3	4	1	2	5	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:100219106C>T	ENST00000547776.2	-	2	195	c.196G>A	c.(196-198)Gca>Aca	p.A66T	ANKS1B_ENST00000547010.1_Intron|ANKS1B_ENST00000329257.7_Missense_Mutation_p.A66T	NM_152788.4	NP_690001.3	Q7Z6G8	ANS1B_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1B	66						cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)	ephrin receptor binding (GO:0046875)			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(15)|lung(38)|pancreas(1)|prostate(2)|skin(1)	70		all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209)		OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06)		TTTAAGGCTGCGTGGTGTAAA	0.438																																						ENST00000547776.2																			0				NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(15)|lung(38)|pancreas(1)|prostate(2)|skin(1)	70						c.(196-198)Gca>Aca		ankyrin repeat and sterile alpha motif domain containing 1B							73	70	71					12																	100219106		1976	4171	6147	SO:0001583	missense	56899					Cajal body|cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane		g.chr12:100219106C>T	AF145204	CCDS55864.1, CCDS55865.1, CCDS55866.1, CCDS55867.1, CCDS55868.1, CCDS55869.1, CCDS55870.1, CCDS55871.1, CCDS55872.1	12q23.1	2013-01-10						"Sterile alpha motif (SAM) domain containing", "Ankyrin repeat domain containing"	24600	protein-coding gene	gene with protein product		607815				10490826, 12415113	Standard	NM_020140		Approved	EB-1, AIDA-1, cajalin-2, ANKS2	uc001tge.2	Q7Z6G8		ENST00000547776.2:c.196G>A	12.37:g.100219106C>T	ENSP00000449629:p.Ala66Thr					ANKS1B_ENST00000547010.1_Intron|ANKS1B_ENST00000329257.7_Missense_Mutation_p.A66T	p.A66T	NM_152788.4	NP_690001.3	Q7Z6G8	ANS1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06)	2	195	-		all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209)	66					A5PKY5|A7E259|A8K153|A8MSN4|B4DFP6|B4DH98|F8VPM3|F8VZR9|F8WC27|Q5XLJ0|Q6IVB5|Q6NUS4|Q7Z6G6|Q7Z6G7|Q8TAP3|Q9NRX7|Q9Y5K9	Missense_Mutation	SNP	ENST00000547776.2	37	c.196G>A	CCDS55872.1	.	.	.	.	.	.	.	.	.	.	C	30	5.057611	0.93846	.	.	ENSG00000185046	ENST00000547776;ENST00000329257;ENST00000549866	D;D;D	0.87571	-1.56;-1.56;-2.27	5.5	5.5	0.81552	Ankyrin repeat-containing domain (4);	0.000000	0.64402	D	0.000001	D	0.96087	0.8725	H	0.97365	3.99	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.997	D	0.97451	1.0028	9	.	.	.	-11.3052	17.1826	0.86858	0.0:1.0:0.0:0.0	.	66;66	F8VVQ4;Q7Z6G8	.;ANS1B_HUMAN	T	66	ENSP00000449629:A66T;ENSP00000331381:A66T;ENSP00000449894:A66T	.	A	-	1	0	ANKS1B	98743237	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	6.425000	0.73370	2.588000	0.87417	0.655000	0.94253	GCA		0.438	ANKS1B-003	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000408421.3	NM_020140		9	16	0	0	0	1	0	9	16					T	100219106	C	T	100219106	3	4	435	1	0	0	0	0	1	0	0	0	689	768	27	1	3938	1	ANKS1B	12	100219106	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	381620	100219106	33632789	5831	26756											
UHRF1BP1L	23074	broad.mit.edu	37	chr12	100433475	100433475	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggcttgcgtgacactgcgttGtttcttcagatcatactttc	6	16	9	10	2	3	2	2	1	1	1	4	2	3	2	0	1	3	3	0	1	1	6			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:100433475G>A	ENST00000279907.7	-	20	4386	c.4174C>T	c.(4174-4176)Caa>Taa	p.Q1392*	UHRF1BP1L_ENST00000545232.2_Nonsense_Mutation_p.Q1042*	NM_015054.1	NP_055869.1	A0JNW5	UH1BL_HUMAN	UHRF1 binding protein 1-like	1392										breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(21)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	50						ACACTGCGTTGTTTCTTCAGA	0.448																																						ENST00000279907.7																			0				breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(21)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	50						c.(4174-4176)Caa>Taa		UHRF1 binding protein 1-like							141	113	122					12																	100433475		2203	4300	6503	SO:0001587	stop_gained	23074							g.chr12:100433475G>A		CCDS31882.1, CCDS31883.1	12q23.1	2011-04-15	2008-08-15		ENSG00000111647	ENSG00000111647			29102	protein-coding gene	gene with protein product							Standard	XM_005268737		Approved	KIAA0701	uc001tgq.3	A0JNW5	OTTHUMG00000170195	ENST00000279907.7:c.4174C>T	12.37:g.100433475G>A	ENSP00000279907:p.Gln1392*					UHRF1BP1L_ENST00000545232.2_Nonsense_Mutation_p.Q1042*	p.Q1392*	NM_015054.1	NP_055869.1	A0JNW5	UH1BL_HUMAN			20	4386	-			1392					A0PJE5|O75183|Q8NDL1|Q96C30|Q9BTS5|Q9H0F1	Nonsense_Mutation	SNP	ENST00000279907.7	37	c.4174C>T	CCDS31882.1	.	.	.	.	.	.	.	.	.	.	G	13.21	2.169480	0.38315	.	.	ENSG00000111647	ENST00000279907;ENST00000545232	.	.	.	5.08	3.21	0.36854	.	1.187420	0.05674	N	0.589177	.	.	.	.	.	.	0.09310	N	0.999998	.	.	.	.	.	.	.	.	.	.	0.18710	T	0.47	0.2255	6.7764	0.23622	0.0931:0.0:0.7341:0.1728	.	.	.	.	X	1392;1042	.	ENSP00000279907:Q1392X	Q	-	1	0	UHRF1BP1L	98957606	0.381000	0.25140	0.008000	0.14137	0.564000	0.35744	1.935000	0.40173	1.119000	0.41883	0.655000	0.94253	CAA		0.448	UHRF1BP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407875.1	NM_001006947		22	40	0	0	0	1	0	22	40					A	100433475	G	A	100433475	4	1	435	1	0	0	0	0	0	1	0	0	16966	1386	48	3	228	3	UHRF1BP1L	12	100433475	Nonsense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	214369	100433475	33418420	5832	26757											
UHRF1BP1L	23074	broad.mit.edu	37	chr12	100452721	100452721	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaccaccatttgtcaaaggCtcagactctgtactataata	13	12	6	10	0	3	2	2	1	1	1	3	2	3	2	2	1	1	2	2	1	5	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:100452721C>T	ENST00000279907.7	-	14	2546	c.2334G>A	c.(2332-2334)gaG>gaA	p.E778E	UHRF1BP1L_ENST00000545232.2_Silent_p.E428E	NM_015054.1	NP_055869.1	A0JNW5	UH1BL_HUMAN	UHRF1 binding protein 1-like	778										breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(21)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	50						TTGTCAAAGGCTCAGACTCTG	0.418																																						ENST00000279907.7																			0				breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(21)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	50						c.(2332-2334)gaG>gaA		UHRF1 binding protein 1-like							90	92	92					12																	100452721		2203	4300	6503	SO:0001819	synonymous_variant	23074							g.chr12:100452721C>T		CCDS31882.1, CCDS31883.1	12q23.1	2011-04-15	2008-08-15		ENSG00000111647	ENSG00000111647			29102	protein-coding gene	gene with protein product							Standard	XM_005268737		Approved	KIAA0701	uc001tgq.3	A0JNW5	OTTHUMG00000170195	ENST00000279907.7:c.2334G>A	12.37:g.100452721C>T						UHRF1BP1L_ENST00000545232.2_Silent_p.E428E	p.E778E	NM_015054.1	NP_055869.1	A0JNW5	UH1BL_HUMAN			14	2546	-			778					A0PJE5|O75183|Q8NDL1|Q96C30|Q9BTS5|Q9H0F1	Silent	SNP	ENST00000279907.7	37	c.2334G>A	CCDS31882.1																																																																																				0.418	UHRF1BP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407875.1	NM_001006947		28	86	0	0	0	1	0	28	86					T	100452721	C	T	100452721	2	4	435	1	0	0	0	0	0	0	0	1	16966	796	28	3		3	UHRF1BP1L	12	100452721	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	19246	100452721	33399174	5833	26758											
UHRF1BP1L	23074	broad.mit.edu	37	chr12	100478400	100478400	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atccattttttgttttggttGcatcactaaaatacatccaa	12	17	4	8	0	1	0	1	0	0	0	3	0	3	0	2	1	2	3	2	1	4	8			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:100478400G>A	ENST00000279907.7	-	10	1354	c.1142C>T	c.(1141-1143)gCa>gTa	p.A381V	UHRF1BP1L_ENST00000545232.2_Missense_Mutation_p.A31V|UHRF1BP1L_ENST00000356828.3_Missense_Mutation_p.A381V	NM_015054.1	NP_055869.1	A0JNW5	UH1BL_HUMAN	UHRF1 binding protein 1-like	381										breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(21)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	50						TGTTTTGGTTGCATCACTAAA	0.313																																						ENST00000279907.7																			0				breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(21)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	50						c.(1141-1143)gCa>gTa		UHRF1 binding protein 1-like							134	112	120					12																	100478400		2203	4300	6503	SO:0001583	missense	23074							g.chr12:100478400G>A		CCDS31882.1, CCDS31883.1	12q23.1	2011-04-15	2008-08-15		ENSG00000111647	ENSG00000111647			29102	protein-coding gene	gene with protein product							Standard	XM_005268737		Approved	KIAA0701	uc001tgq.3	A0JNW5	OTTHUMG00000170195	ENST00000279907.7:c.1142C>T	12.37:g.100478400G>A	ENSP00000279907:p.Ala381Val					UHRF1BP1L_ENST00000545232.2_Missense_Mutation_p.A31V|UHRF1BP1L_ENST00000356828.3_Missense_Mutation_p.A381V	p.A381V	NM_015054.1	NP_055869.1	A0JNW5	UH1BL_HUMAN			10	1354	-			381					A0PJE5|O75183|Q8NDL1|Q96C30|Q9BTS5|Q9H0F1	Missense_Mutation	SNP	ENST00000279907.7	37	c.1142C>T	CCDS31882.1	.	.	.	.	.	.	.	.	.	.	G	26.7	4.762462	0.89932	.	.	ENSG00000111647	ENST00000279907;ENST00000545232;ENST00000356828;ENST00000551973;ENST00000551980	T;T;T;T;T	0.59083	2.7;2.56;1.37;1.21;0.29	5.48	5.48	0.80851	.	0.053629	0.64402	D	0.000001	T	0.68961	0.3058	L	0.50333	1.59	0.80722	D	1	B;D	0.65815	0.141;0.995	B;P	0.58013	0.041;0.831	T	0.68992	-0.5263	10	0.54805	T	0.06	-18.1061	19.7151	0.96113	0.0:0.0:1.0:0.0	.	381;381	A0JNW5-2;A0JNW5	.;UH1BL_HUMAN	V	381;31;381;31;31	ENSP00000279907:A381V;ENSP00000444824:A31V;ENSP00000349285:A381V;ENSP00000448226:A31V;ENSP00000449189:A31V	ENSP00000279907:A381V	A	-	2	0	UHRF1BP1L	99002531	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.624000	0.74243	2.742000	0.94016	0.650000	0.86243	GCA		0.313	UHRF1BP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407875.1	NM_001006947		11	48	0	0	0	1	0	11	48					A	100478400	G	A	100478400	3	1	435	1	0	0	0	0	1	0	0	0	16966	1319	46	3	3324	3	UHRF1BP1L	12	100478400	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	25679	100478400	33373495	5834	26759											
ACTR6	64431	broad.mit.edu	37	chr12	100613796	100613796	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcttttaaagaaatgcagccGcatttttttaagaacattgt	13	16	6	6	1	1	2	0	0	1	2	1	2	1	2	1	0	3	2	1	0	5	7	rs140292829		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:100613796G>A	ENST00000188312.2	+	10	1698	c.933G>A	c.(931-933)ccG>ccA	p.P311P	ACTR6_ENST00000552376.1_Intron|ACTR6_ENST00000546902.1_Silent_p.P229P|ACTR6_ENST00000551617.1_Intron	NM_022496.4	NP_071941.1	Q9GZN1	ARP6_HUMAN	ARP6 actin-related protein 6 homolog (yeast)	311						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)				autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(2)|skin(1)	14						AAATGCAGCCGCATTTTTTTA	0.373																																						ENST00000188312.2																			0				autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(2)|skin(1)	14						c.(931-933)ccG>ccA		ARP6 actin-related protein 6 homolog (yeast)		G		0,4404		0,0,2202	65	66	65		933	-2.1	1	12	dbSNP_134	65	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	ACTR6	NM_022496.3		0,2,6500	AA,AG,GG		0.0233,0.0,0.0154		311/397	100613796	2,13002	2202	4300	6502	SO:0001819	synonymous_variant	64431					cytoplasm|cytoskeleton		g.chr12:100613796G>A	AF212251	CCDS9074.1	12q23.1	2012-07-09			ENSG00000075089	ENSG00000075089			24025	protein-coding gene	gene with protein product						11368909	Standard	NM_022496		Approved	ARP6, FLJ13433	uc001thb.2	Q9GZN1	OTTHUMG00000170245	ENST00000188312.2:c.933G>A	12.37:g.100613796G>A						ACTR6_ENST00000546902.1_Silent_p.P229P|ACTR6_ENST00000551617.1_Intron|ACTR6_ENST00000552376.1_Intron	p.P311P	NM_022496.4	NP_071941.1	Q9GZN1	ARP6_HUMAN			10	1698	+			311					B3KW37|B4DLG9|Q53GH2|Q9BY39|Q9H8H6	Silent	SNP	ENST00000188312.2	37	c.933G>A	CCDS9074.1																																																																																				0.373	ACTR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408159.1	NM_022496		6	46	0	0	0	1	0	6	46					A	100613796	G	A	100613796	2	1	435	1	0	0	0	0	0	0	0	1	216	1074	38	1		1	ACTR6	12	100613796	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	135396	100613796	33238099	5835	26760											
SCYL2	55681	broad.mit.edu	37	chr12	100732507	100732507	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atatgggctttcagacttcaGgattcaacatgcccgttaat	11	13	8	9	1	3	1	3	0	0	1	3	2	3	2	1	2	2	2	1	2	3	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:100732507G>T	ENST00000360820.2	+	18	2784	c.2347G>T	c.(2347-2349)Gga>Tga	p.G783*		NM_017988.4	NP_060458.3	Q6P3W7	SCYL2_HUMAN	SCY1-like 2 (S. cerevisiae)	783	Necessary for interaction with AP2 complex and clathrin, interaction with clathrin is necessary for its targeting to the TGN and endosomal membranes.				endosome to lysosome transport (GO:0008333)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of clathrin-mediated endocytosis (GO:2000370)|positive regulation of receptor internalization (GO:0002092)|receptor internalization involved in canonical Wnt signaling pathway (GO:2000286)	cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|receptor binding (GO:0005102)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(4)|lung(15)|ovary(2)|skin(1)	41						TCAGACTTCAGGATTCAACAT	0.423																																						ENST00000360820.2																			0				central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(4)|lung(15)|ovary(2)|skin(1)	41						c.(2347-2349)Gga>Tga		SCY1-like 2 (S. cerevisiae)							112	114	113					12																	100732507		2203	4300	6503	SO:0001587	stop_gained	55681				endosome to lysosome transport|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of clathrin-mediated endocytosis|positive regulation of receptor internalization	clathrin-coated vesicle|endosome membrane|Golgi apparatus|perinuclear region of cytoplasm	ATP binding|protein kinase activity|receptor binding	g.chr12:100732507G>T	AB037781	CCDS9076.1	12q23.1	2005-01-20				ENSG00000136021			19286	protein-coding gene	gene with protein product						10718198	Standard	NM_017988		Approved	KIAA1360	uc001thn.3	Q6P3W7	OTTHUMG00000170319	ENST00000360820.2:c.2347G>T	12.37:g.100732507G>T	ENSP00000354061:p.Gly783*						p.G783*	NM_017988.4	NP_060458.3	Q6P3W7	SCYL2_HUMAN			18	2784	+			783			Necessary for interaction with AP2 complex and clathrin, interaction with clathrin is necessary for its targeting to the TGN and endosomal membranes.		A8KAB5|Q96EF4|Q96ST4|Q9H7V5|Q9NVH3|Q9P2I7	Nonsense_Mutation	SNP	ENST00000360820.2	37	c.2347G>T	CCDS9076.1	.	.	.	.	.	.	.	.	.	.	G	41	9.025453	0.99040	.	.	ENSG00000136021	ENST00000360820	.	.	.	5.63	4.69	0.59074	.	0.144459	0.64402	D	0.000006	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.27785	T	0.31	.	17.2571	0.87060	0.0:0.1253:0.8747:0.0	.	.	.	.	X	783	.	ENSP00000354061:G783X	G	+	1	0	SCYL2	99256638	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.042000	0.76565	2.828000	0.97474	0.580000	0.79431	GGA		0.423	SCYL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408493.2	NM_017988		36	54	1	0	6.90743e-12	1	7.45315e-12	36	54					T	100732507	G	T	100732507	4	4	435	1	0	0	0	0	0	1	0	0	13948	1001	35	5	2413	5	SCYL2	12	100732507	Nonsense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	118711	100732507	33119388	5836	26761											
ANO4	121601	broad.mit.edu	37	chr12	101368636	101368636	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cttccaggagaaaaatctatTacctgccccgccgttacaag	12	9	7	13	2	1	1	0	0	1	1	2	2	2	1	5	1	3	1	5	1	6	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:101368636T>C	ENST00000392977.3	+	7	781	c.571T>C	c.(571-573)Tac>Cac	p.Y191H	ANO4_ENST00000538618.1_3'UTR|ANO4_ENST00000392979.3_Missense_Mutation_p.Y156H|ANO4_ENST00000299222.9_5'UTR			Q32M45	ANO4_HUMAN	anoctamin 4	191					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)			NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						AAAAATCTATTACCTGCCCCG	0.463										HNSCC(74;0.22)																												ENST00000392979.3																			0				NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						c.(466-468)Tac>Cac		anoctamin 4							115	108	110					12																	101368636		2203	4300	6503	SO:0001583	missense	121601					chloride channel complex	chloride channel activity	g.chr12:101368636T>C	AK091540	CCDS31884.1, CCDS66445.1	12q23.3	2014-04-09	2008-08-28	2008-08-28	ENSG00000151572	ENSG00000151572		"Ion channels / Chloride channels : Calcium activated : Anoctamins"	23837	protein-coding gene	gene with protein product		610111	"transmembrane protein 16D"	TMEM16D		12739008, 15067359, 24692353	Standard	NM_178826		Approved	FLJ34221, FLJ34272, FLJ35277	uc001thw.2	Q32M45		ENST00000392977.3:c.571T>C	12.37:g.101368636T>C	ENSP00000376703:p.Tyr191His	HNSCC(74;0.22)				ANO4_ENST00000299222.9_5'UTR|ANO4_ENST00000538618.1_3'UTR|ANO4_ENST00000392977.3_Missense_Mutation_p.Y191H	p.Y156H	NM_178826.3	NP_849148.2	Q32M45	ANO4_HUMAN			6	827	+			191					Q8NAJ0|Q8NB39|Q8NB53	Missense_Mutation	SNP	ENST00000392977.3	37	c.466T>C		.	.	.	.	.	.	.	.	.	.	T	15.15	2.746953	0.49257	.	.	ENSG00000151572	ENST00000392979;ENST00000392977	T;T	0.67345	-0.26;-0.26	5.52	5.52	0.82312	.	0.076682	0.53938	D	0.000043	T	0.68091	0.2963	L	0.29908	0.895	0.80722	D	1	B;D	0.58620	0.209;0.983	B;P	0.59889	0.035;0.865	T	0.63427	-0.6640	10	0.16420	T	0.52	.	15.6392	0.76981	0.0:0.0:0.0:1.0	.	191;156	Q32M45;Q32M45-2	ANO4_HUMAN;.	H	156;191	ENSP00000376705:Y156H;ENSP00000376703:Y191H	ENSP00000376703:Y191H	Y	+	1	0	ANO4	99892767	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.224000	0.72265	2.097000	0.63578	0.528000	0.53228	TAC		0.463	ANO4-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000409295.1	NM_178826		45	62	0	0	0	1	0	45	62					C	101368636	T	C	101368636	3	2	435	1	0	0	0	0	1	0	0	0	699	1754	61	4	484	4	ANO4	12	101368636	Missense_Mutation	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	636129	101368636	32483259	5837	26762											
UTP20	27340	broad.mit.edu	37	chr12	101702086	101702086	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gaaaactaagacatgatgtgGtacagactgctgtccctgat	13	10	10	8	0	0	4	0	2	0	2	1	5	1	4	1	1	3	2	1	1	4	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:101702086G>A	ENST00000261637.4	+	18	2293	c.2119G>A	c.(2119-2121)Gta>Ata	p.V707I		NM_014503.2	NP_055318.2	O75691	UTP20_HUMAN	UTP20, small subunit (SSU) processome component, homolog (yeast)	707					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000480)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000447)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000472)|negative regulation of cell proliferation (GO:0008285)|rRNA processing (GO:0006364)	90S preribosome (GO:0030686)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|preribosome, small subunit precursor (GO:0030688)|small-subunit processome (GO:0032040)	poly(A) RNA binding (GO:0044822)	p.V707I(1)		NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						ACATGATGTGGTACAGACTGC	0.393																																						ENST00000261637.4																			1	Substitution - Missense(1)	p.V707I(1)	endometrium(1)	NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						c.(2119-2121)Gta>Ata		UTP20, small subunit (SSU) processome component, homolog (yeast)							120	116	118					12																	101702086		2203	4300	6503	SO:0001583	missense	27340				endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation	90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome	protein binding	g.chr12:101702086G>A	AJ006778	CCDS9081.1	12q23	2006-02-11				ENSG00000120800			17897	protein-coding gene	gene with protein product	"down regulated in metastasis"	612822				9673349, 15590835, 12837249	Standard	NM_014503		Approved	DRIM	uc001tia.1	O75691	OTTHUMG00000170270	ENST00000261637.4:c.2119G>A	12.37:g.101702086G>A	ENSP00000261637:p.Val707Ile						p.V707I	NM_014503.2	NP_055318.2	O75691	UTP20_HUMAN			18	2293	+			707					Q9H3H4	Missense_Mutation	SNP	ENST00000261637.4	37	c.2119G>A	CCDS9081.1	.	.	.	.	.	.	.	.	.	.	G	14.49	2.550621	0.45383	.	.	ENSG00000120800	ENST00000261637	T	0.18657	2.2	5.71	5.71	0.89125	Armadillo-type fold (1);	0.061387	0.64402	D	0.000004	T	0.28101	0.0693	M	0.62723	1.935	0.53005	D	0.999969	B	0.22746	0.074	B	0.21546	0.035	T	0.02519	-1.1147	10	0.36615	T	0.2	-19.5368	19.8579	0.96771	0.0:0.0:1.0:0.0	.	707	O75691	UTP20_HUMAN	I	707	ENSP00000261637:V707I	ENSP00000261637:V707I	V	+	1	0	UTP20	100226217	1.000000	0.71417	0.996000	0.52242	0.509000	0.34042	5.408000	0.66368	2.687000	0.91594	0.655000	0.94253	GTA		0.393	UTP20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408242.1	NM_014503		21	42	0	0	0	1	0	21	42					A	101702086	G	A	101702086	3	1	435	1	0	0	0	0	1	0	0	0	17096	1261	44	3	2189	3	UTP20	12	101702086	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	333450	101702086	32149809	5838	26763											
UTP20	27340	broad.mit.edu	37	chr12	101727206	101727206	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aattgatgctgtgtttcatgGtgcagtttggccccaggtaa	8	14	12	7	0	1	1	1	1	0	0	1	1	1	1	2	3	2	5	2	3	2	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:101727206G>A	ENST00000261637.4	+	28	3719	c.3545G>A	c.(3544-3546)gGt>gAt	p.G1182D		NM_014503.2	NP_055318.2	O75691	UTP20_HUMAN	UTP20, small subunit (SSU) processome component, homolog (yeast)	1182					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000480)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000447)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000472)|negative regulation of cell proliferation (GO:0008285)|rRNA processing (GO:0006364)	90S preribosome (GO:0030686)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|preribosome, small subunit precursor (GO:0030688)|small-subunit processome (GO:0032040)	poly(A) RNA binding (GO:0044822)			NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						GTGTTTCATGGTGCAGTTTGG	0.378																																						ENST00000261637.4																			0				NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						c.(3544-3546)gGt>gAt		UTP20, small subunit (SSU) processome component, homolog (yeast)							168	168	168					12																	101727206		2203	4300	6503	SO:0001583	missense	27340				endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation	90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome	protein binding	g.chr12:101727206G>A	AJ006778	CCDS9081.1	12q23	2006-02-11				ENSG00000120800			17897	protein-coding gene	gene with protein product	"down regulated in metastasis"	612822				9673349, 15590835, 12837249	Standard	NM_014503		Approved	DRIM	uc001tia.1	O75691	OTTHUMG00000170270	ENST00000261637.4:c.3545G>A	12.37:g.101727206G>A	ENSP00000261637:p.Gly1182Asp						p.G1182D	NM_014503.2	NP_055318.2	O75691	UTP20_HUMAN			28	3719	+			1182					Q9H3H4	Missense_Mutation	SNP	ENST00000261637.4	37	c.3545G>A	CCDS9081.1	.	.	.	.	.	.	.	.	.	.	G	16.52	3.146186	0.57044	.	.	ENSG00000120800	ENST00000261637	T	0.16897	2.31	5.76	5.76	0.90799	Armadillo-type fold (1);	0.110201	0.64402	D	0.000008	T	0.18718	0.0449	L	0.40543	1.245	0.42134	D	0.991485	P	0.51240	0.943	P	0.47470	0.548	T	0.02064	-1.1220	10	0.11794	T	0.64	-20.2009	14.7327	0.69393	0.0:0.2521:0.7479:0.0	.	1182	O75691	UTP20_HUMAN	D	1182	ENSP00000261637:G1182D	ENSP00000261637:G1182D	G	+	2	0	UTP20	100251337	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.724000	0.54962	2.882000	0.98803	0.655000	0.94253	GGT		0.378	UTP20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408242.1	NM_014503		55	71	0	0	0	1	0	55	71					A	101727206	G	A	101727206	3	1	435	1	0	0	0	0	1	0	0	0	17096	1261	44	3	3655	3	UTP20	12	101727206	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	25120	101727206	32124689	5839	26764											
UTP20	27340	broad.mit.edu	37	chr12	101763627	101763627	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gactatgcaaagctcggggcCgccaggggccagaacttcca	10	5	13	13	2	0	1	0	0	0	1	2	2	1	1	4	4	3	2	4	4	3	2	rs139074123		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:101763627C>T	ENST00000261637.4	+	49	6687	c.6513C>T	c.(6511-6513)gcC>gcT	p.A2171A		NM_014503.2	NP_055318.2	O75691	UTP20_HUMAN	UTP20, small subunit (SSU) processome component, homolog (yeast)	2171					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000480)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000447)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000472)|negative regulation of cell proliferation (GO:0008285)|rRNA processing (GO:0006364)	90S preribosome (GO:0030686)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|preribosome, small subunit precursor (GO:0030688)|small-subunit processome (GO:0032040)	poly(A) RNA binding (GO:0044822)			NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						AGCTCGGGGCCGCCAGGGGCC	0.512																																						ENST00000261637.4																			0				NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						c.(6511-6513)gcC>gcT		UTP20, small subunit (SSU) processome component, homolog (yeast)		C		0,4406		0,0,2203	108	119	116		6513	1.8	1	12	dbSNP_134	116	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	UTP20	NM_014503.2		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		2171/2786	101763627	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	27340				endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation	90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome	protein binding	g.chr12:101763627C>T	AJ006778	CCDS9081.1	12q23	2006-02-11				ENSG00000120800			17897	protein-coding gene	gene with protein product	"down regulated in metastasis"	612822				9673349, 15590835, 12837249	Standard	NM_014503		Approved	DRIM	uc001tia.1	O75691	OTTHUMG00000170270	ENST00000261637.4:c.6513C>T	12.37:g.101763627C>T							p.A2171A	NM_014503.2	NP_055318.2	O75691	UTP20_HUMAN			49	6687	+			2171					Q9H3H4	Silent	SNP	ENST00000261637.4	37	c.6513C>T	CCDS9081.1																																																																																				0.512	UTP20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408242.1	NM_014503		28	65	0	0	0	1	0	28	65					T	101763627	C	T	101763627	2	4	435	1	0	0	0	0	0	0	0	1	17096	639	23	2		2	UTP20	12	101763627	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	36421	101763627	32088268	5840	26765											
GNPTAB	79158	broad.mit.edu	37	chr12	102153878	102153879	+	Frame_Shift_Ins	INS	-	-	T																															cgtgatatcagcaggaagcaINStttttgagcaatttattagc																										TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:102153878_102153879insT	ENST00000299314.7	-	16	3440_3441	c.3178_3179insA	c.(3178-3180)atgfs	p.M1060fs		NM_024312.4	NP_077288.2	Q3T906	GNPTA_HUMAN	N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits	1060					carbohydrate phosphorylation (GO:0046835)|cell differentiation (GO:0030154)|lysosome organization (GO:0007040)|protein secretion (GO:0009306)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity (GO:0003976)			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(8)|lung(8)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	37						AGCAGGAAGCATTTTTGAGCAA	0.366																																						ENST00000299314.7																			0				NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(8)|lung(8)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	37						c.(3178-3180)gctfs		N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits																																				SO:0001589	frameshift_variant	79158				cell differentiation	Golgi membrane|integral to membrane|nucleus	metal ion binding|transcription factor binding|UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity	g.chr12:102153878_102153879insT	AY687932	CCDS9088.1	12q23.3	2013-01-10				ENSG00000111670		"EF-hand domain containing"	29670	protein-coding gene	gene with protein product		607840		GNPTA		10574462, 16116615	Standard	NM_024312		Approved	KIAA1208, MGC4170	uc001tit.3	Q3T906	OTTHUMG00000170444	ENST00000299314.7:c.3179dupA	12.37:g.102153883_102153883dupT	ENSP00000299314:p.Met1060fs						p.A1060fs	NM_024312.4	NP_077288.2	Q3T906	GNPTA_HUMAN			16	3440_3441	-			1060					A2RRQ9|Q3ZQK2|Q6IPW5|Q86TQ2|Q96N13|Q9ULL2	Frame_Shift_Ins	INS	ENST00000299314.7	37	c.3178_3179insA	CCDS9088.1																																																																																				0.366	GNPTAB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409182.1			21	96						21	96	---	---	---	---	T	102153879	-	T	102153878	7	5	435	1	0	1	1	0	0	0	0	0	6545	217	8	0	615	0	GNPTAB	12	102153878	Frame_Shift_Ins	INS	-	TCGA-XK-AAIW-01A-11D-A41K-08	390251	102153878	31698017	5841	26766											
GNPTAB	79158	broad.mit.edu	37	chr12	102158675	102158675	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tctcttaaacttcgggaagcGtttttctttgggaatatcct	8	17	8	8	2	2	0	0	0	2	0	5	2	3	2	1	2	2	1	1	2	5	6			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:102158675G>A	ENST00000299314.7	-	13	2282	c.2020C>T	c.(2020-2022)Cgc>Tgc	p.R674C	RNU6-101P_ENST00000410323.1_RNA	NM_024312.4	NP_077288.2	Q3T906	GNPTA_HUMAN	N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits	674					carbohydrate phosphorylation (GO:0046835)|cell differentiation (GO:0030154)|lysosome organization (GO:0007040)|protein secretion (GO:0009306)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity (GO:0003976)			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(8)|lung(8)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	37						TTCGGGAAGCGTTTTTCTTTG	0.418																																						ENST00000299314.7																			0				NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(8)|lung(8)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	37						c.(2020-2022)Cgc>Tgc		N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits							69	70	70					12																	102158675		2203	4300	6503	SO:0001583	missense	79158				cell differentiation	Golgi membrane|integral to membrane|nucleus	metal ion binding|transcription factor binding|UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity	g.chr12:102158675G>A	AY687932	CCDS9088.1	12q23.3	2013-01-10				ENSG00000111670		"EF-hand domain containing"	29670	protein-coding gene	gene with protein product		607840		GNPTA		10574462, 16116615	Standard	NM_024312		Approved	KIAA1208, MGC4170	uc001tit.3	Q3T906	OTTHUMG00000170444	ENST00000299314.7:c.2020C>T	12.37:g.102158675G>A	ENSP00000299314:p.Arg674Cys						p.R674C	NM_024312.4	NP_077288.2	Q3T906	GNPTA_HUMAN			13	2282	-			674					A2RRQ9|Q3ZQK2|Q6IPW5|Q86TQ2|Q96N13|Q9ULL2	Missense_Mutation	SNP	ENST00000299314.7	37	c.2020C>T	CCDS9088.1	.	.	.	.	.	.	.	.	.	.	G	18.98	3.738367	0.69304	.	.	ENSG00000111670	ENST00000299314	D	0.97209	-4.29	5.96	5.96	0.96718	.	0.220091	0.49305	D	0.000149	D	0.96716	0.8928	L	0.32530	0.975	0.80722	D	1	D	0.89917	1.0	P	0.54706	0.759	D	0.97000	0.9728	10	0.72032	D	0.01	-16.9783	20.422	0.99049	0.0:0.0:1.0:0.0	.	674	Q3T906	GNPTA_HUMAN	C	674	ENSP00000299314:R674C	ENSP00000299314:R674C	R	-	1	0	GNPTAB	100682806	1.000000	0.71417	1.000000	0.80357	0.189000	0.23516	9.117000	0.94347	2.832000	0.97577	0.655000	0.94253	CGC		0.418	GNPTAB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409182.1			17	67	0	0	0	1	0	17	67					A	102158675	G	A	102158675	3	1	435	1	0	0	0	0	1	0	0	0	6545	1145	40	1	1786	1	GNPTAB	12	102158675	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	4797	102158675	31693220	5842	26767											
NUP37	79023	broad.mit.edu	37	chr12	102492967	102492967	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ccattaatgaaatcggtatgGccctctaaaacctgacagaa	15	9	7	10	1	1	3	0	2	1	1	2	3	1	3	3	2	1	1	3	2	6	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:102492967G>A	ENST00000552283.1	-	5	505	c.366C>T	c.(364-366)ggC>ggT	p.G122G	NUP37_ENST00000543021.1_5'UTR|NUP37_ENST00000251074.1_Silent_p.G122G			Q8NFH4	NUP37_HUMAN	nucleoporin 37kDa	122					carbohydrate metabolic process (GO:0005975)|chromosome segregation (GO:0007059)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|kinetochore (GO:0000776)|nuclear envelope (GO:0005635)|nuclear pore outer ring (GO:0031080)|nucleus (GO:0005634)				endometrium(3)|large_intestine(3)|lung(10)|ovary(1)	17						AATCGGTATGGCCCTCTAAAA	0.373																																						ENST00000552283.1																			0				endometrium(3)|large_intestine(3)|lung(10)|ovary(1)	17						c.(364-366)ggC>ggT		nucleoporin 37kDa							98	90	93					12																	102492967		2203	4300	6503	SO:0001819	synonymous_variant	79023				carbohydrate metabolic process|cell division|chromosome segregation|glucose transport|mitotic prometaphase|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex	protein binding	g.chr12:102492967G>A	AF514994	CCDS9089.1	12q23.2	2014-08-12			ENSG00000075188	ENSG00000075188		"WD repeat domain containing"	29929	protein-coding gene	gene with protein product		609264				12196509	Standard	NM_024057		Approved	MGC5585, FLJ22618	uc001tjc.3	Q8NFH4	OTTHUMG00000170478	ENST00000552283.1:c.366C>T	12.37:g.102492967G>A						NUP37_ENST00000543021.1_5'UTR|NUP37_ENST00000251074.1_Silent_p.G122G	p.G122G			Q8NFH4	NUP37_HUMAN			5	505	-			122					Q9H644	Silent	SNP	ENST00000552283.1	37	c.366C>T	CCDS9089.1																																																																																				0.373	NUP37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409330.1	NM_024057		24	38	0	0	0	1	0	24	38					A	102492967	G	A	102492967	2	1	435	1	0	0	0	0	0	0	0	1	10764	1190	42	3		3	NUP37	12	102492967	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	334292	102492967	31358928	5843	26768											
C12orf48	55010	broad.mit.edu	37	chr12	102572527	102572527	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cacaatccatcatcatggaaCgtctattcttacacttttta	12	15	3	11	1	4	0	2	0	2	0	5	1	5	1	1	1	2	0	1	1	5	6	rs372409171		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:102572527C>T	ENST00000358383.5	+	8	1208	c.1163C>T	c.(1162-1164)aCg>aTg	p.T388M	PARPBP_ENST00000541394.1_Missense_Mutation_p.T465M|PARPBP_ENST00000378128.3_Intron|PARPBP_ENST00000543784.1_Intron|PARPBP_ENST00000327680.2_Missense_Mutation_p.T307M|PARPBP_ENST00000392911.2_Missense_Mutation_p.T307M|PARPBP_ENST00000535811.1_Intron			Q9NWS1	PARI_HUMAN	PARP1 binding protein	388					DNA repair (GO:0006281)|negative regulation of double-strand break repair via homologous recombination (GO:2000042)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(1)|lung(8)|urinary_tract(2)	11						CATCATGGAACGTCTATTCTT	0.328																																						ENST00000327680.2																			0				endometrium(1)|lung(8)|urinary_tract(2)	11						c.(919-921)aCg>aTg		PARP1 binding protein		C	MET/THR	1,4405	2.1+/-5.4	0,1,2202	95	92	93		1163	-1.8	0	12		93	0,8600		0,0,4300	no	missense	C12orf48	NM_017915.3	81	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign	388/580	102572527	1,13005	2203	4300	6503	SO:0001583	missense	55010				response to DNA damage stimulus	cytoplasm|nucleus	DNA binding	g.chr12:102572527C>T	AK000648	CCDS9090.1, CCDS9090.2	12q23.2	2013-03-14	2012-01-24	2012-01-24		ENSG00000185480			26074	protein-coding gene	gene with protein product	"PARP-1 binding protein"	613687	"chromosome 12 open reading frame 48"	C12orf48		20931645	Standard	NM_017915		Approved	FLJ20641, PARI	uc001tjf.3	Q9NWS1		ENST00000358383.5:c.1163C>T	12.37:g.102572527C>T	ENSP00000351153:p.Thr388Met					PARPBP_ENST00000543784.1_Intron|PARPBP_ENST00000535811.1_Intron|PARPBP_ENST00000541394.1_Missense_Mutation_p.T465M|PARPBP_ENST00000392911.2_Missense_Mutation_p.T307M|PARPBP_ENST00000358383.5_Missense_Mutation_p.T388M|PARPBP_ENST00000378128.3_Intron	p.T307M	NM_017915.3	NP_060385.3	Q9NWS1	PR1BP_HUMAN			9	1383	+			388					B4E0Y0|Q05C00|Q499L8|Q4FZA0|Q4KMW7|Q6NSC6|Q6PJA1|Q86W36	Missense_Mutation	SNP	ENST00000358383.5	37	c.920C>T	CCDS9090.2	.	.	.	.	.	.	.	.	.	.	C	3.653	-0.071125	0.07228	2.27E-4	0.0	ENSG00000185480	ENST00000327680;ENST00000541394;ENST00000358383;ENST00000392911	T;T;T;T	0.47869	0.84;0.83;0.84;0.84	5.65	-1.79	0.07932	.	0.795789	0.12564	N	0.457946	T	0.35068	0.0919	L	0.40543	1.245	0.09310	N	1	B;B	0.26975	0.165;0.165	B;B	0.22152	0.038;0.038	T	0.23762	-1.0179	10	0.42905	T	0.14	0.2348	11.4251	0.50004	0.0:0.4265:0.0:0.5735	.	465;388	B4DZ31;Q9NWS1	.;PR1BP_HUMAN	M	307;465;388;307	ENSP00000332915:T307M;ENSP00000440850:T465M;ENSP00000351153:T388M;ENSP00000376643:T307M	ENSP00000332915:T307M	T	+	2	0	C12orf48	101096657	0.000000	0.05858	0.000000	0.03702	0.167000	0.22549	-0.487000	0.06505	-0.163000	0.10946	-0.827000	0.03088	ACG		0.328	PARPBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397030.2	NM_017915		17	33	0	0	0	1	0	17	33					T	102572527	C	T	102572527	3	4	435	1	0	0	0	0	1	0	0	0	1692	536	19	1	942	1	C12orf48	12	102572527	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	79560	102572527	31279368	5844	26769											
C12orf42	374470	broad.mit.edu	37	chr12	103696167	103696167	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccgacgggatttccggacgCgcccaggagtctgctttgga	6	9	14	12	5	1	0	0	0	1	0	3	5	3	4	3	4	1	1	3	4	0	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:103696167C>T	ENST00000378113.2	-	6	1027	c.802G>A	c.(802-804)Gcg>Acg	p.A268T	C12orf42_ENST00000548883.1_Missense_Mutation_p.A268T|C12orf42_ENST00000548048.1_Missense_Mutation_p.A201T|C12orf42_ENST00000315192.8_Intron	NM_001099336.1	NP_001092806.1	Q96LP6	CL042_HUMAN	chromosome 12 open reading frame 42	268								p.A268T(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)	22						TTTCCGGACGCGCCCAGGAGT	0.667																																						ENST00000548048.1																			1	Substitution - Missense(1)	p.A268T(1)	large_intestine(1)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)	22						c.(601-603)Gcg>Acg		chromosome 12 open reading frame 42							53	62	59					12																	103696167		2061	4219	6280	SO:0001583	missense	374470							g.chr12:103696167C>T	AK058052	CCDS44963.1	12q23.2	2012-05-30			ENSG00000179088	ENSG00000179088			24729	protein-coding gene	gene with protein product							Standard	NM_001099336		Approved	FLJ25323	uc001tjt.2	Q96LP6	OTTHUMG00000169988	ENST00000378113.2:c.802G>A	12.37:g.103696167C>T	ENSP00000367353:p.Ala268Thr					C12orf42_ENST00000378113.2_Missense_Mutation_p.A268T|C12orf42_ENST00000548883.1_Missense_Mutation_p.A268T|C12orf42_ENST00000315192.8_Intron	p.A201T			Q96LP6	CL042_HUMAN			9	1097	-			268					Q49A64|Q4G0S2	Missense_Mutation	SNP	ENST00000378113.2	37	c.601G>A	CCDS44963.1	.	.	.	.	.	.	.	.	.	.	C	14.09	2.431947	0.43122	.	.	ENSG00000179088	ENST00000548883;ENST00000548048;ENST00000378113	T;T;T	0.52526	0.66;0.66;0.66	4.42	1.44	0.22558	.	2.020920	0.02528	N	0.093292	T	0.29620	0.0739	N	0.17082	0.46	0.09310	N	1	B	0.34181	0.44	B	0.19148	0.024	T	0.18681	-1.0329	10	0.24483	T	0.36	4.3776	8.9747	0.35928	0.0:0.6519:0.0:0.3481	.	268	Q96LP6	CL042_HUMAN	T	268;201;268	ENSP00000447908:A268T;ENSP00000449362:A201T;ENSP00000367353:A268T	ENSP00000367353:A268T	A	-	1	0	C12orf42	102220297	0.000000	0.05858	0.000000	0.03702	0.310000	0.27922	-0.778000	0.04664	0.156000	0.19299	0.561000	0.74099	GCG		0.667	C12orf42-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406754.1	NM_198521		38	56	0	0	0	1	0	38	56					T	103696167	C	T	103696167	3	4	435	1	0	0	0	0	1	0	0	0	1688	768	27	1	284	1	C12orf42	12	103696167	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	1123640	103696167	30155728	5845	26770											
STAB2	55576	broad.mit.edu	37	chr12	104069709	104069709	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cacactctcctttgcagttgTatttgcaaagcaggatatga	11	13	8	9	0	1	1	0	1	1	0	2	2	1	2	1	1	3	5	1	1	3	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:104069709T>C	ENST00000388887.2	+	24	2760	c.2556T>C	c.(2554-2556)tgT>tgC	p.C852C		NM_017564.9	NP_060034.9			stabilin 2											NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						TTTGCAGTTGTATTTGCAAAG	0.507																																						ENST00000388887.2																			0				NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						c.(2554-2556)tgT>tgC		stabilin 2							127	110	116					12																	104069709		2203	4300	6503	SO:0001819	synonymous_variant	55576				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity	g.chr12:104069709T>C	AF160476	CCDS31888.1	12q23.3	2007-01-29				ENSG00000136011			18629	protein-coding gene	gene with protein product	"hyaluronic acid receptor for endocytosis"	608561				11829752, 12077138	Standard	XR_429107		Approved	DKFZP434E0321, FELL, STAB-2, HARE, FEEL-2	uc001tjw.3	Q8WWQ8	OTTHUMG00000170056	ENST00000388887.2:c.2556T>C	12.37:g.104069709T>C							p.C852C	NM_017564.9	NP_060034.9	Q8WWQ8	STAB2_HUMAN			24	2760	+			852			EGF-like 7.			Silent	SNP	ENST00000388887.2	37	c.2556T>C	CCDS31888.1																																																																																				0.507	STAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407089.1			22	31	0	0	0	1	0	22	31					C	104069709	T	C	104069709	2	2	435	1	0	0	0	0	0	0	0	1	15237	1644	57	4		4	STAB2	12	104069709	Silent	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	373542	104069709	29782186	5846	26771											
STAB2	55576	broad.mit.edu	37	chr12	104089546	104089546	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ggcgaatgcaattgaggctgCcgatgcctacacagtgtttg	9	10	13	9	2	0	1	0	1	0	0	0	3	0	1	2	2	4	3	2	2	3	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:104089546C>T	ENST00000388887.2	+	33	3710	c.3506C>T	c.(3505-3507)gCc>gTc	p.A1169V		NM_017564.9	NP_060034.9			stabilin 2									p.A1169V(1)		NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						ATTGAGGCTGCCGATGCCTAC	0.458																																						ENST00000388887.2																			1	Substitution - Missense(1)	p.A1169V(1)	endometrium(1)	NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						c.(3505-3507)gCc>gTc		stabilin 2							108	101	103					12																	104089546		2203	4300	6503	SO:0001583	missense	55576				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity	g.chr12:104089546C>T	AF160476	CCDS31888.1	12q23.3	2007-01-29				ENSG00000136011			18629	protein-coding gene	gene with protein product	"hyaluronic acid receptor for endocytosis"	608561				11829752, 12077138	Standard	XR_429107		Approved	DKFZP434E0321, FELL, STAB-2, HARE, FEEL-2	uc001tjw.3	Q8WWQ8	OTTHUMG00000170056	ENST00000388887.2:c.3506C>T	12.37:g.104089546C>T	ENSP00000373539:p.Ala1169Val						p.A1169V	NM_017564.9	NP_060034.9	Q8WWQ8	STAB2_HUMAN			33	3710	+			1169			FAS1 4.			Missense_Mutation	SNP	ENST00000388887.2	37	c.3506C>T	CCDS31888.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.116907	0.77323	.	.	ENSG00000136011	ENST00000388887	D	0.90844	-2.74	6.17	6.17	0.99709	FAS1 domain (4);Growth factor, receptor (1);	0.057725	0.64402	D	0.000002	D	0.95560	0.8557	M	0.79258	2.445	0.47778	D	0.99951	D	0.89917	1.0	D	0.91635	0.999	D	0.93764	0.7069	10	0.39692	T	0.17	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	1169	Q8WWQ8	STAB2_HUMAN	V	1169	ENSP00000373539:A1169V	ENSP00000373539:A1169V	A	+	2	0	STAB2	102613676	1.000000	0.71417	0.953000	0.39169	0.185000	0.23345	6.019000	0.70818	2.941000	0.99782	0.655000	0.94253	GCC		0.458	STAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407089.1			19	37	0	0	0	1	0	19	37					T	104089546	C	T	104089546	3	4	435	1	0	0	0	0	1	0	0	0	15237	739	26	3	3636	3	STAB2	12	104089546	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	19837	104089546	29762349	5847	26772											
STAB2	55576	broad.mit.edu	37	chr12	104121053	104121053	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttcttcccacaggagcatttCgtgaaagatctggtcggccc	8	11	10	12	2	2	2	0	1	2	1	5	3	3	3	2	3	1	1	2	3	1	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:104121053C>T	ENST00000388887.2	+	47	5064	c.4860C>T	c.(4858-4860)ttC>ttT	p.F1620F		NM_017564.9	NP_060034.9			stabilin 2									p.F1620F(1)		NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						AGGAGCATTTCGTGAAAGATC	0.512																																						ENST00000388887.2																			1	Substitution - coding silent(1)	p.F1620F(1)	large_intestine(1)	NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						c.(4858-4860)ttC>ttT		stabilin 2							244	238	240					12																	104121053		2203	4300	6503	SO:0001819	synonymous_variant	55576				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity	g.chr12:104121053C>T	AF160476	CCDS31888.1	12q23.3	2007-01-29				ENSG00000136011			18629	protein-coding gene	gene with protein product	"hyaluronic acid receptor for endocytosis"	608561				11829752, 12077138	Standard	XR_429107		Approved	DKFZP434E0321, FELL, STAB-2, HARE, FEEL-2	uc001tjw.3	Q8WWQ8	OTTHUMG00000170056	ENST00000388887.2:c.4860C>T	12.37:g.104121053C>T							p.F1620F	NM_017564.9	NP_060034.9	Q8WWQ8	STAB2_HUMAN			47	5064	+			1620			FAS1 5.			Silent	SNP	ENST00000388887.2	37	c.4860C>T	CCDS31888.1																																																																																				0.512	STAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407089.1			17	183	0	0	0	1	0	17	183					T	104121053	C	T	104121053	2	4	435	1	0	0	0	0	0	0	0	1	15237	883	31	2		2	STAB2	12	104121053	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	31507	104121053	29730842	5848	26773											
STAB2	55576	broad.mit.edu	37	chr12	104140469	104140469	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggattatgaaggtgacggAatcacatgcacaggtaagcc	13	8	12	8	1	1	2	1	2	0	0	1	4	1	4	1	4	2	2	1	4	4	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:104140469A>G	ENST00000388887.2	+	58	6435	c.6231A>G	c.(6229-6231)ggA>ggG	p.G2077G	RP11-341G23.4_ENST00000551299.1_RNA	NM_017564.9	NP_060034.9			stabilin 2											NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						AAGGTGACGGAATCACATGCA	0.517																																						ENST00000388887.2																			0				NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						c.(6229-6231)ggA>ggG		stabilin 2							274	211	232					12																	104140469		2203	4300	6503	SO:0001819	synonymous_variant	55576				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity	g.chr12:104140469A>G	AF160476	CCDS31888.1	12q23.3	2007-01-29				ENSG00000136011			18629	protein-coding gene	gene with protein product	"hyaluronic acid receptor for endocytosis"	608561				11829752, 12077138	Standard	XR_429107		Approved	DKFZP434E0321, FELL, STAB-2, HARE, FEEL-2	uc001tjw.3	Q8WWQ8	OTTHUMG00000170056	ENST00000388887.2:c.6231A>G	12.37:g.104140469A>G						RP11-341G23.4_ENST00000551299.1_RNA	p.G2077G	NM_017564.9	NP_060034.9	Q8WWQ8	STAB2_HUMAN			58	6435	+			2077			EGF-like 15.			Silent	SNP	ENST00000388887.2	37	c.6231A>G	CCDS31888.1																																																																																				0.517	STAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407089.1			38	101	0	0	0	1	0	38	101					G	104140469	A	G	104140469	2	3	435	1	0	0	0	0	0	0	0	1	15237	233	9	4		4	STAB2	12	104140469	Silent	SNP	A	TCGA-XK-AAIW-01A-11D-A41K-08	19416	104140469	29711426	5849	26774											
HSP90B1	7184	broad.mit.edu	37	chr12	104336443	104336443	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagaccactcgaatcgaacaCgtcttgctaaacttcttagg	13	10	7	11	3	2	1	0	0	2	1	4	3	2	1	1	1	3	1	1	1	6	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:104336443C>T	ENST00000299767.5	+	12	1695	c.1513C>T	c.(1513-1515)Cgt>Tgt	p.R505C		NM_003299.2	NP_003290.1	P14625	ENPL_HUMAN	heat shock protein 90kDa beta (Grp94), member 1	505					actin rod assembly (GO:0031247)|activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|cellular response to ATP (GO:0071318)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|innate immune response (GO:0045087)|negative regulation of apoptotic process (GO:0043066)|protein folding (GO:0006457)|protein transport (GO:0015031)|regulation of phosphoprotein phosphatase activity (GO:0043666)|response to hypoxia (GO:0001666)|sequestering of calcium ion (GO:0051208)|toll-like receptor signaling pathway (GO:0002224)	cytosol (GO:0005829)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|midbody (GO:0030496)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|low-density lipoprotein particle receptor binding (GO:0050750)|protein phosphatase binding (GO:0019903)|RNA binding (GO:0003723)|virion binding (GO:0046790)			central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(4)	29					Rifabutin(DB00615)	GAATCGAACACGTCTTGCTAA	0.373																																						ENST00000299767.5																			0				central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(4)	29						c.(1513-1515)Cgt>Tgt		heat shock protein 90kDa beta (Grp94), member 1	Rifabutin(DB00615)						119	116	117					12																	104336443		2203	4300	6503	SO:0001583	missense	7184				actin rod assembly|anti-apoptosis|cellular response to ATP|ER-associated protein catabolic process|protein folding|protein transport|regulation of phosphoprotein phosphatase activity|response to hypoxia|sequestering of calcium ion	cytosol|endoplasmic reticulum lumen|endoplasmic reticulum membrane|melanosome|microsome|midbody|perinuclear region of cytoplasm	ATP binding|calcium ion binding|low-density lipoprotein particle receptor binding|protein phosphatase binding|RNA binding|unfolded protein binding|virion binding	g.chr12:104336443C>T	AY040226	CCDS9094.1	12q24.2-q24.3	2011-09-02	2006-02-24	2006-02-24		ENSG00000166598		"Heat shock proteins / HSPC"	12028	protein-coding gene	gene with protein product		191175	"tumor rejection antigen (gp96) 1"	TRA1		16269234	Standard	NM_003299		Approved	GP96, GRP94	uc001tkb.2	P14625	OTTHUMG00000170118	ENST00000299767.5:c.1513C>T	12.37:g.104336443C>T	ENSP00000299767:p.Arg505Cys						p.R505C	NM_003299.1	NP_003290.1	P14625	ENPL_HUMAN			12	1695	+			505					Q96A97	Missense_Mutation	SNP	ENST00000299767.5	37	c.1513C>T	CCDS9094.1	.	.	.	.	.	.	.	.	.	.	C	34	5.369627	0.95900	.	.	ENSG00000166598	ENST00000299767;ENST00000421266	T	0.11495	2.77	6.16	6.16	0.99307	Ribosomal protein S5 domain 2-type fold (1);	0.000000	0.85682	D	0.000000	T	0.37461	0.1004	M	0.92507	3.315	0.80722	D	1	D	0.58268	0.982	P	0.51657	0.676	T	0.46331	-0.9199	10	0.87932	D	0	.	20.8598	0.99761	0.0:1.0:0.0:0.0	.	505	P14625	ENPL_HUMAN	C	505;255	ENSP00000299767:R505C	ENSP00000299767:R505C	R	+	1	0	HSP90B1	102860573	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.070000	0.71220	2.937000	0.99478	0.650000	0.86243	CGT		0.373	HSP90B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407349.1	NM_003299		12	65	0	0	0	1	0	12	65					T	104336443	C	T	104336443	3	4	435	1	0	0	0	0	1	0	0	0	7403	536	19	1	1559	1	HSP90B1	12	104336443	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	195974	104336443	29515452	5850	26775											
HSP90B1	7184	broad.mit.edu	37	chr12	104340404	104340404	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atctcttaacagttactatgCgagtcagaagaaaacatttg	15	12	7	7	1	2	2	1	0	1	2	3	3	2	2	0	0	4	1	0	0	6	4	rs373656293		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:104340404C>T	ENST00000299767.5	+	15	2218	c.2036C>T	c.(2035-2037)gCg>gTg	p.A679V		NM_003299.2	NP_003290.1	P14625	ENPL_HUMAN	heat shock protein 90kDa beta (Grp94), member 1	679					actin rod assembly (GO:0031247)|activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|cellular response to ATP (GO:0071318)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|innate immune response (GO:0045087)|negative regulation of apoptotic process (GO:0043066)|protein folding (GO:0006457)|protein transport (GO:0015031)|regulation of phosphoprotein phosphatase activity (GO:0043666)|response to hypoxia (GO:0001666)|sequestering of calcium ion (GO:0051208)|toll-like receptor signaling pathway (GO:0002224)	cytosol (GO:0005829)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|midbody (GO:0030496)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|low-density lipoprotein particle receptor binding (GO:0050750)|protein phosphatase binding (GO:0019903)|RNA binding (GO:0003723)|virion binding (GO:0046790)			central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(4)	29					Rifabutin(DB00615)	AGTTACTATGCGAGTCAGAAG	0.348																																						ENST00000299767.5																			0				central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(4)	29						c.(2035-2037)gCg>gTg		heat shock protein 90kDa beta (Grp94), member 1	Rifabutin(DB00615)	C	VAL/ALA	0,4406		0,0,2203	73	76	75		2036	5.5	1	12		75	1,8599	1.2+/-3.3	0,1,4299	no	missense	HSP90B1	NM_003299.1	64	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	679/804	104340404	1,13005	2203	4300	6503	SO:0001583	missense	7184				actin rod assembly|anti-apoptosis|cellular response to ATP|ER-associated protein catabolic process|protein folding|protein transport|regulation of phosphoprotein phosphatase activity|response to hypoxia|sequestering of calcium ion	cytosol|endoplasmic reticulum lumen|endoplasmic reticulum membrane|melanosome|microsome|midbody|perinuclear region of cytoplasm	ATP binding|calcium ion binding|low-density lipoprotein particle receptor binding|protein phosphatase binding|RNA binding|unfolded protein binding|virion binding	g.chr12:104340404C>T	AY040226	CCDS9094.1	12q24.2-q24.3	2011-09-02	2006-02-24	2006-02-24		ENSG00000166598		"Heat shock proteins / HSPC"	12028	protein-coding gene	gene with protein product		191175	"tumor rejection antigen (gp96) 1"	TRA1		16269234	Standard	NM_003299		Approved	GP96, GRP94	uc001tkb.2	P14625	OTTHUMG00000170118	ENST00000299767.5:c.2036C>T	12.37:g.104340404C>T	ENSP00000299767:p.Ala679Val						p.A679V	NM_003299.1	NP_003290.1	P14625	ENPL_HUMAN			15	2218	+			679					Q96A97	Missense_Mutation	SNP	ENST00000299767.5	37	c.2036C>T	CCDS9094.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.86|19.86	3.906477|3.906477	0.72868|0.72868	0.0|0.0	1.16E-4|1.16E-4	ENSG00000166598|ENSG00000166598	ENST00000299767;ENST00000421266|ENST00000550595	T|.	0.09445|.	2.98|.	5.53|5.53	5.53|5.53	0.82687|0.82687	.|.	0.051314|.	0.85682|.	D|.	0.000000|.	T|.	0.70798|.	0.3265|.	L|L	0.49126|0.49126	1.545|1.545	0.80722|0.80722	D|D	1|1	P|.	0.45569|.	0.861|.	B|.	0.33295|.	0.161|.	T|.	0.65759|.	-0.6090|.	10|.	0.72032|.	D|.	0.01|.	.|.	19.8184|19.8184	0.96581|0.96581	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	679|.	P14625|.	ENPL_HUMAN|.	V|X	679;429|30	ENSP00000299767:A679V|.	ENSP00000299767:A679V|.	A|R	+|+	2|1	0|2	HSP90B1|HSP90B1	102864534|102864534	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.711000|0.711000	0.40976|0.40976	5.999000|5.999000	0.70665|0.70665	2.761000|2.761000	0.94854|0.94854	0.650000|0.650000	0.86243|0.86243	GCG|CGA		0.348	HSP90B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407349.1	NM_003299		13	29	0	0	0	1	0	13	29					T	104340404	C	T	104340404	3	4	435	1	0	0	0	0	1	0	0	0	7403	768	27	1	2094	1	HSP90B1	12	104340404	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	3961	104340404	29511491	5851	26776											
TDG	6996	broad.mit.edu	37	chr12	104377098	104377098	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tatgaaatttttagtaaagaAgtttttggagtaaaggttaa	16	16	9	0	0	0	2	0	1	0	1	0	3	0	3	0	2	0	4	0	2	9	9			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:104377098A>C	ENST00000392872.3	+	7	957	c.723A>C	c.(721-723)gaA>gaC	p.E241D	AC078819.1_ENST00000401157.1_RNA|TDG_ENST00000544861.1_Missense_Mutation_p.E98D|TDG_ENST00000542036.1_Missense_Mutation_p.E37D|TDG_ENST00000266775.9_Missense_Mutation_p.E237D	NM_003211.4	NP_003202.3	Q13569	TDG_HUMAN	thymine-DNA glycosylase	241					base-excision repair (GO:0006284)|base-excision repair, AP site formation (GO:0006285)|chromatin modification (GO:0016568)|depyrimidination (GO:0045008)|DNA demethylation (GO:0080111)|DNA repair (GO:0006281)|embryo development (GO:0009790)|mismatch repair (GO:0006298)|negative regulation of chromatin binding (GO:0035562)|negative regulation of protein binding (GO:0032091)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of gene expression, epigenetic (GO:0040029)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)	damaged DNA binding (GO:0003684)|DNA N-glycosylase activity (GO:0019104)|double-stranded DNA binding (GO:0003690)|mismatched DNA binding (GO:0030983)|protein homodimerization activity (GO:0042803)|pyrimidine-specific mismatch base pair DNA N-glycosylase activity (GO:0008263)|RNA polymerase II transcription cofactor activity (GO:0001104)|structure-specific DNA binding (GO:0043566)			large_intestine(2)|lung(14)|ovary(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	24				BRCA - Breast invasive adenocarcinoma(302;0.00114)		TTAGTAAAGAAGTTTTTGGAG	0.279								Base excision repair (BER), DNA glycosylases																														ENST00000392872.3																			0				large_intestine(2)|lung(14)|ovary(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	24						c.(721-723)gaA>gaC	Base excision repair (BER), DNA glycosylases	thymine-DNA glycosylase							47	49	48					12																	104377098		2166	4277	6443	SO:0001583	missense	6996				depyrimidination|mismatch repair	nucleoplasm	damaged DNA binding|mismatched DNA binding|protein binding|pyrimidine-specific mismatch base pair DNA N-glycosylase activity	g.chr12:104377098A>C	U51166	CCDS9095.1	12q24.1	2014-05-14			ENSG00000139372	ENSG00000139372	3.2.2.29		11700	protein-coding gene	gene with protein product	"G/T mismatch-specific thymine DNA glycosylase"	601423				8662714, 9299239	Standard	NM_003211		Approved		uc001tkg.3	Q13569	OTTHUMG00000168418	ENST00000392872.3:c.723A>C	12.37:g.104377098A>C	ENSP00000376611:p.Glu241Asp					TDG_ENST00000544861.1_Missense_Mutation_p.E98D|TDG_ENST00000542036.1_Missense_Mutation_p.E37D|TDG_ENST00000266775.9_Missense_Mutation_p.E237D	p.E241D	NM_003211.4	NP_003202.3	Q13569	TDG_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.00114)	7	957	+			241					Q8IUZ6|Q8IZM3	Missense_Mutation	SNP	ENST00000392872.3	37	c.723A>C	CCDS9095.1	.	.	.	.	.	.	.	.	.	.	A	19.73	3.882516	0.72294	.	.	ENSG00000139372	ENST00000392872;ENST00000266775;ENST00000544861;ENST00000537100;ENST00000542036	T;T;T;T;T	0.54479	0.57;0.57;0.57;0.92;0.92	5.4	5.4	0.78164	Uracil-DNA glycosylase-like (3);	0.000000	0.85682	D	0.000000	T	0.62829	0.2460	L	0.50919	1.6	0.53688	D	0.999977	D;B;P	0.71674	0.998;0.32;0.856	D;B;P	0.65684	0.937;0.394;0.788	T	0.62868	-0.6763	10	0.44086	T	0.13	-33.6997	10.617	0.45456	0.925:0.0:0.075:0.0	.	37;241;241	B4DI29;B2R848;Q13569	.;.;TDG_HUMAN	D	241;237;98;234;37	ENSP00000376611:E241D;ENSP00000266775:E237D;ENSP00000445899:E98D;ENSP00000439825:E234D;ENSP00000439054:E37D	ENSP00000266775:E237D	E	+	3	2	TDG	102901228	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.137000	0.50562	2.037000	0.60232	0.460000	0.39030	GAA		0.279	TDG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399673.2			38	54	0	0	0	1	0	38	54					C	104377098	A	C	104377098	3	2	435	1	0	0	0	0	1	0	0	0	15722	69	3	5	749	5	TDG	12	104377098	Missense_Mutation	SNP	A	TCGA-XK-AAIW-01A-11D-A41K-08	36694	104377098	29474797	5852	26777											
GLT8D2	83468	broad.mit.edu	37	chr12	104390558	104390558	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcctgagcagagggcaaatcGcagtcatctgagaaagccgc	12	6	12	11	2	2	3	1	2	1	2	4	4	3	3	2	1	2	3	2	1	2	0	rs199878047		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:104390558G>A	ENST00000360814.4	-	8	960	c.555C>T	c.(553-555)tgC>tgT	p.C185C	GLT8D2_ENST00000546436.1_Silent_p.C185C|GLT8D2_ENST00000548660.1_Silent_p.C185C	NM_031302.3	NP_112592.1	Q9H1C3	GL8D2_HUMAN	glycosyltransferase 8 domain containing 2	185						integral component of membrane (GO:0016021)	transferase activity, transferring glycosyl groups (GO:0016757)			kidney(3)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)	16						AGGGCAAATCGCAGTCATCTG	0.502													G|||	1	0.000199681	0	0	5008	,	,		19441	0.001		0	False		,,,				2504	0					ENST00000360814.4																			0				kidney(3)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)	16						c.(553-555)tgC>tgT		glycosyltransferase 8 domain containing 2							109	110	110					12																	104390558		2203	4300	6503	SO:0001819	synonymous_variant	83468					integral to membrane	transferase activity, transferring glycosyl groups	g.chr12:104390558G>A	BC022343	CCDS9096.1	12q23.3	2013-02-22			ENSG00000120820	ENSG00000120820		"Glycosyltransferase family 8 domain containing"	24890	protein-coding gene	gene with protein product							Standard	NM_031302		Approved	FLJ31494	uc001tkh.1	Q9H1C3	OTTHUMG00000170120	ENST00000360814.4:c.555C>T	12.37:g.104390558G>A						GLT8D2_ENST00000548660.1_Silent_p.C185C|GLT8D2_ENST00000546436.1_Silent_p.C185C	p.C185C	NM_031302.3	NP_112592.1	Q9H1C3	GL8D2_HUMAN			8	960	-			185					Q96KA2	Silent	SNP	ENST00000360814.4	37	c.555C>T	CCDS9096.1																																																																																				0.502	GLT8D2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407371.1	NM_031302		25	21	0	0	0	1	0	25	21					A	104390558	G	A	104390558	2	1	435	1	0	0	0	0	0	0	0	1	6470	1079	38	1		1	GLT8D2	12	104390558	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	13460	104390558	29461337	5853	26778											
HCFC2	29915	broad.mit.edu	37	chr12	104476381	104476381	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gttcattttcttacctaaatCtgggtgagtcttttaagagt	9	18	8	6	0	4	2	1	1	3	1	4	2	4	2	1	1	1	1	1	1	4	7			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:104476381C>T	ENST00000229330.4	+	6	975	c.871C>T	c.(871-873)Ctg>Ttg	p.L291L		NM_013320.2	NP_037452.1	Q9Y5Z7	HCFC2_HUMAN	host cell factor C2	291					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	transcription coactivator activity (GO:0003713)			breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|lung(14)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	35						TTACCTAAATCTGGGTGAGTC	0.318																																					Esophageal Squamous(184;1814 2036 4771 6974 15702)	ENST00000229330.4																			0				breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|lung(14)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	35						c.(871-873)Ctg>Ttg		host cell factor C2							91	90	90					12																	104476381		2203	4300	6503	SO:0001819	synonymous_variant	29915				regulation of transcription from RNA polymerase II promoter|viral reproduction	cytoplasm|nucleus	transcription coactivator activity	g.chr12:104476381C>T	AF117210	CCDS9097.1	12q23.3	2011-03-30			ENSG00000111727	ENSG00000111727			24972	protein-coding gene	gene with protein product		607926				10196288	Standard	NM_013320		Approved	HCF-2	uc001tkj.4	Q9Y5Z7	OTTHUMG00000170175	ENST00000229330.4:c.871C>T	12.37:g.104476381C>T							p.L291L	NM_013320.2	NP_037452.1	Q9Y5Z7	HCFC2_HUMAN			6	975	+			291					B2R8Q5|C0H5X3	Silent	SNP	ENST00000229330.4	37	c.871C>T	CCDS9097.1																																																																																				0.318	HCFC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407780.1	NM_013320		21	32	0	0	0	1	0	21	32					T	104476381	C	T	104476381	2	4	435	1	0	0	0	0	0	0	0	1	6993	912	32	3		3	HCFC2	12	104476381	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	85823	104476381	29375514	5854	26779											
NFYB	4801	broad.mit.edu	37	chr12	104517076	104517076	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cctaaagtagacatagcaaaGagaatatcttctccattgat	16	11	6	8	0	2	3	0	1	2	2	3	4	2	3	2	0	1	2	2	0	7	6			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:104517076G>A	ENST00000240055.3	-	5	584	c.357C>T	c.(355-357)ctC>ctT	p.L119L	NFYB_ENST00000551727.1_Silent_p.L119L|RNA5SP370_ENST00000362545.1_RNA	NM_006166.3	NP_006157.1	P25208	NFYB_HUMAN	nuclear transcription factor Y, beta	119	B domain.				cellular lipid metabolic process (GO:0044255)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	CCAAT-binding factor complex (GO:0016602)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|repressing transcription factor binding (GO:0070491)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			large_intestine(1)|lung(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	6						ACATAGCAAAGAGAATATCTT	0.348																																						ENST00000240055.3																			0				large_intestine(1)|lung(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	6						c.(355-357)ctC>ctT		nuclear transcription factor Y, beta							129	119	123					12																	104517076		2203	4300	6503	SO:0001819	synonymous_variant	4801					CCAAT-binding factor complex	repressing transcription factor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr12:104517076G>A		CCDS9098.1	12q22-q23	2008-11-11				ENSG00000120837			7805	protein-coding gene	gene with protein product		189904				1774067, 9612081	Standard	NM_006166		Approved	CBF-A, HAP3, NF-YB	uc001tkl.1	P25208	OTTHUMG00000170176	ENST00000240055.3:c.357C>T	12.37:g.104517076G>A						NFYB_ENST00000551727.1_Silent_p.L119L	p.L119L	NM_006166.3	NP_006157.1	P25208	NFYB_HUMAN			5	584	-			119			B domain.		A8K7B9|Q96IY8	Silent	SNP	ENST00000240055.3	37	c.357C>T	CCDS9098.1																																																																																				0.348	NFYB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407786.1			25	36	0	0	0	1	0	25	36					A	104517076	G	A	104517076	2	1	435	1	0	0	0	0	0	0	0	1	10390	929	33	3		3	NFYB	12	104517076	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	40695	104517076	29334819	5855	26780											
TXNRD1	7296	broad.mit.edu	37	chr12	104709674	104709674	+	Splice_Site	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gatggaaagtcgaggagacaGgtatgagagggaaaagctac	16	5	16	4	1	0	2	0	1	0	2	1	8	0	4	0	4	2	2	0	4	5	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:104709674G>C	ENST00000529546.1	+	4	391	c.166G>C	c.(166-168)Gtt>Ctt	p.V56L	TXNRD1_ENST00000542918.1_Splice_Site_p.V144L|TXNRD1_ENST00000354940.6_Splice_Site_p.V94L|TXNRD1_ENST00000525566.1_Splice_Site_p.V244L|TXNRD1_ENST00000526390.1_Splice_Site_p.V138L|TXNRD1_ENST00000524698.1_Splice_Site_p.V94L|TXNRD1_ENST00000378070.4_Splice_Site_p.V193L|TXNRD1_ENST00000397736.2_Splice_Site_p.V138L|TXNRD1_ENST00000427956.1_Splice_Site_p.V209L|TXNRD1_ENST00000526950.1_Splice_Site_p.V163L|TXNRD1_ENST00000503506.2_Splice_Site_p.V94L|TXNRD1_ENST00000388854.3_Splice_Site_p.V146L|TXNRD1_ENST00000540716.1_Splice_Site_p.V56L|TXNRD1_ENST00000526691.1_Splice_Site_p.V146L|TXNRD1_ENST00000429002.2_Splice_Site_p.V244L			Q16881	TRXR1_HUMAN	thioredoxin reductase 1	244	Glutaredoxin. {ECO:0000255|PROSITE- ProRule:PRU00686}.				cell proliferation (GO:0008283)|cell redox homeostasis (GO:0045454)|cellular lipid metabolic process (GO:0044255)|mesoderm formation (GO:0001707)|nucleobase-containing small molecule interconversion (GO:0015949)|nucleobase-containing small molecule metabolic process (GO:0055086)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|NADP binding (GO:0050661)|protein disulfide oxidoreductase activity (GO:0015035)|thioredoxin-disulfide reductase activity (GO:0004791)			cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(5)|skin(1)|stomach(1)|urinary_tract(1)	16					Arsenic trioxide(DB01169)|Flavin adenine dinucleotide(DB03147)	CGAGGAGACAGGTATGAGAGG	0.433																																					Ovarian(139;555 1836 9186 9946 10884)	ENST00000526691.1																			0				cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(5)|skin(1)|stomach(1)|urinary_tract(1)	16						c.e5+1		thioredoxin reductase 1							73	71	71					12																	104709674		1912	4126	6038	SO:0001630	splice_region_variant	7296				cell redox homeostasis|cellular lipid metabolic process|electron transport chain|nucleobase, nucleoside and nucleotide interconversion|signal transduction|transport	cytosol|nucleolus	electron carrier activity|flavin adenine dinucleotide binding|NADP binding|protein disulfide oxidoreductase activity|thioredoxin-disulfide reductase activity	g.chr12:104709674G>C		CCDS53820.1, CCDS53821.1, CCDS53823.1, CCDS58274.1	12q23-q24.1	2012-03-01							12437	protein-coding gene	gene with protein product		601112				7589432	Standard	NM_001093771		Approved	TXNR, GRIM-12, Trxr1	uc021rcx.2	Q16881		ENST00000529546.1:c.166+1G>C	12.37:g.104709674G>C						TXNRD1_ENST00000526950.1_Splice_Site_p.V163_splice|TXNRD1_ENST00000526390.1_Splice_Site_p.V138_splice|TXNRD1_ENST00000525566.1_Splice_Site_p.V244_splice|TXNRD1_ENST00000524698.1_Splice_Site_p.V94_splice|TXNRD1_ENST00000503506.2_Splice_Site_p.V94_splice|TXNRD1_ENST00000427956.1_Splice_Site_p.V209_splice|TXNRD1_ENST00000397736.2_Splice_Site_p.V138_splice|TXNRD1_ENST00000388854.3_Splice_Site_p.V146_splice|TXNRD1_ENST00000378070.4_Splice_Site_p.V193_splice|TXNRD1_ENST00000354940.6_Splice_Site_p.V94_splice|TXNRD1_ENST00000542918.1_Splice_Site_p.V144_splice|TXNRD1_ENST00000540716.1_Splice_Site_p.V56_splice|TXNRD1_ENST00000529546.1_Splice_Site_p.V56_splice|TXNRD1_ENST00000429002.2_Splice_Site_p.V244_splice	p.V146_splice	NM_001261445.1|NM_003330.3	NP_001248374.1|NP_003321.3	Q16881	TRXR1_HUMAN			5	892	+			244			Glutaredoxin.		B7Z1F4|B7Z3Y8|B7Z904|E9PMY9|F5H780|Q6FI31|Q6VB40|Q6VB41|Q6VB42|Q6VBP2|Q6VBP3|Q6VBP4|Q6VBP5|Q6VBP9|Q6VBQ0|Q6YNQ1|Q76P53|Q7LA96|Q8WVC8|Q99475|Q9UES8|Q9UH79	Splice_Site	SNP	ENST00000529546.1	37	c.436_splice	CCDS58274.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.79|13.79	2.342292|2.342292	0.41498|0.41498	.|.	.|.	ENSG00000198431|ENSG00000198431	ENST00000531691|ENST00000525566;ENST00000429002;ENST00000503506;ENST00000526691;ENST00000388854;ENST00000354940;ENST00000526390;ENST00000529546;ENST00000540716;ENST00000526580;ENST00000524698;ENST00000542918;ENST00000378070;ENST00000527335;ENST00000397736;ENST00000427956;ENST00000526950	T|T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.77877|0.67171	-1.13|-0.17;-0.17;-0.17;-0.17;-0.17;-0.17;-0.17;-0.25;-0.25;0.99;-0.17;-0.17;-0.17;-0.13;-0.17;-0.17;-0.17	5.81|5.81	5.81|5.81	0.92471|0.92471	.|Pyridine nucleotide-disulphide oxidoreductase, FAD/NAD(P)-binding domain (1);	.|0.169495	.|0.51477	.|D	.|0.000082	T|T	0.65217|0.65217	0.2670|0.2670	M|M	0.63843|0.63843	1.955|1.955	0.80722|0.80722	D|D	1|1	.|B;B;B;B;B;B;B	.|0.25007	.|0.013;0.0;0.116;0.001;0.0;0.002;0.002	.|B;B;B;B;B;B;B	.|0.26614	.|0.03;0.002;0.071;0.002;0.001;0.008;0.008	T|T	0.64854|0.64854	-0.6309|-0.6309	7|10	0.46703|0.72032	T|D	0.11|0.01	-20.4621|-20.4621	13.3423|13.3423	0.60551|0.60551	0.0717:0.0:0.9283:0.0|0.0717:0.0:0.9283:0.0	.|.	.|144;138;244;146;94;244;209	.|B7Z2S5;E2QRB9;B7Z904;Q16881-4;B2R5P6;Q16881;E7EW10	.|.;.;.;.;.;TRXR1_HUMAN;.	R|L	138|244;244;94;146;146;94;138;56;56;94;94;144;193;94;138;209;163	ENSP00000431925:G138R|ENSP00000434516:V244L;ENSP00000412045:V244L;ENSP00000421934:V94L;ENSP00000435929:V146L;ENSP00000373506:V146L;ENSP00000347020:V94L;ENSP00000435123:V138L;ENSP00000434919:V56L;ENSP00000442709:V56L;ENSP00000433887:V94L;ENSP00000433425:V94L;ENSP00000440978:V144L;ENSP00000367310:V193L;ENSP00000433599:V94L;ENSP00000380844:V138L;ENSP00000393328:V209L;ENSP00000432812:V163L	ENSP00000431925:G138R|ENSP00000347020:V94L	G|V	+|+	1|1	0|0	TXNRD1|TXNRD1	103233804|103233804	1.000000|1.000000	0.71417|0.71417	0.915000|0.915000	0.36163|0.36163	0.342000|0.342000	0.28953|0.28953	6.691000|6.691000	0.74573|0.74573	2.754000|2.754000	0.94517|0.94517	0.650000|0.650000	0.86243|0.86243	GGT|GTT		0.433	TXNRD1-004	PUTATIVE	basic|exp_conf|CCDS|seleno	protein_coding	protein_coding	OTTHUMT00000389969.1	NM_003330	Missense_Mutation	12	12	0	0	0	1	0	12	12					C	104709674	G	C	104709674	5	2	435	1	0	0	0	0	0	0	1	0	16804	1014	35	5	770	5	TXNRD1	12	104709674	Splice_Site	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	192598	104709674	29142221	5856	26781											
TXNRD1	7296	broad.mit.edu	37	chr12	104721433	104721433	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gctggctcagaggctctatgCaggttccactgtcaaggtga	8	10	13	10	0	3	2	2	1	1	1	4	2	4	2	1	4	1	5	1	4	2	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:104721433C>T	ENST00000529546.1	+	10	1187	c.962C>T	c.(961-963)gCa>gTa	p.A321V	TXNRD1_ENST00000542918.1_Missense_Mutation_p.A409V|TXNRD1_ENST00000354940.6_Missense_Mutation_p.A359V|TXNRD1_ENST00000525566.1_Missense_Mutation_p.A509V|TXNRD1_ENST00000526390.1_Missense_Mutation_p.A403V|TXNRD1_ENST00000524698.1_Missense_Mutation_p.A359V|TXNRD1_ENST00000378070.4_Missense_Mutation_p.A458V|TXNRD1_ENST00000397736.2_Missense_Mutation_p.A403V|TXNRD1_ENST00000427956.1_Missense_Mutation_p.A474V|TXNRD1_ENST00000526950.1_Missense_Mutation_p.A428V|TXNRD1_ENST00000503506.2_Missense_Mutation_p.A359V|TXNRD1_ENST00000388854.3_Missense_Mutation_p.A411V|TXNRD1_ENST00000540716.1_Missense_Mutation_p.A321V|TXNRD1_ENST00000526691.1_Missense_Mutation_p.A411V|TXNRD1_ENST00000429002.2_Missense_Mutation_p.A509V			Q16881	TRXR1_HUMAN	thioredoxin reductase 1	509					cell proliferation (GO:0008283)|cell redox homeostasis (GO:0045454)|cellular lipid metabolic process (GO:0044255)|mesoderm formation (GO:0001707)|nucleobase-containing small molecule interconversion (GO:0015949)|nucleobase-containing small molecule metabolic process (GO:0055086)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|NADP binding (GO:0050661)|protein disulfide oxidoreductase activity (GO:0015035)|thioredoxin-disulfide reductase activity (GO:0004791)			cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(5)|skin(1)|stomach(1)|urinary_tract(1)	16					Arsenic trioxide(DB01169)|Flavin adenine dinucleotide(DB03147)	AGGCTCTATGCAGGTTCCACT	0.488																																					Ovarian(139;555 1836 9186 9946 10884)	ENST00000526691.1																			0				cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(5)|skin(1)|stomach(1)|urinary_tract(1)	16						c.(1231-1233)gCa>gTa		thioredoxin reductase 1							90	89	89					12																	104721433		2001	4179	6180	SO:0001583	missense	7296				cell redox homeostasis|cellular lipid metabolic process|electron transport chain|nucleobase, nucleoside and nucleotide interconversion|signal transduction|transport	cytosol|nucleolus	electron carrier activity|flavin adenine dinucleotide binding|NADP binding|protein disulfide oxidoreductase activity|thioredoxin-disulfide reductase activity	g.chr12:104721433C>T		CCDS53820.1, CCDS53821.1, CCDS53823.1, CCDS58274.1	12q23-q24.1	2012-03-01							12437	protein-coding gene	gene with protein product		601112				7589432	Standard	NM_001093771		Approved	TXNR, GRIM-12, Trxr1	uc021rcx.2	Q16881		ENST00000529546.1:c.962C>T	12.37:g.104721433C>T	ENSP00000434919:p.Ala321Val					TXNRD1_ENST00000526950.1_Missense_Mutation_p.A428V|TXNRD1_ENST00000526390.1_Missense_Mutation_p.A403V|TXNRD1_ENST00000525566.1_Missense_Mutation_p.A509V|TXNRD1_ENST00000524698.1_Missense_Mutation_p.A359V|TXNRD1_ENST00000503506.2_Missense_Mutation_p.A359V|TXNRD1_ENST00000427956.1_Missense_Mutation_p.A474V|TXNRD1_ENST00000397736.2_Missense_Mutation_p.A403V|TXNRD1_ENST00000388854.3_Missense_Mutation_p.A411V|TXNRD1_ENST00000378070.4_Missense_Mutation_p.A458V|TXNRD1_ENST00000354940.6_Missense_Mutation_p.A359V|TXNRD1_ENST00000542918.1_Missense_Mutation_p.A409V|TXNRD1_ENST00000540716.1_Missense_Mutation_p.A321V|TXNRD1_ENST00000529546.1_Missense_Mutation_p.A321V|TXNRD1_ENST00000429002.2_Missense_Mutation_p.A509V	p.A411V	NM_001261445.1|NM_003330.3	NP_001248374.1|NP_003321.3	Q16881	TRXR1_HUMAN			11	1688	+			509					B7Z1F4|B7Z3Y8|B7Z904|E9PMY9|F5H780|Q6FI31|Q6VB40|Q6VB41|Q6VB42|Q6VBP2|Q6VBP3|Q6VBP4|Q6VBP5|Q6VBP9|Q6VBQ0|Q6YNQ1|Q76P53|Q7LA96|Q8WVC8|Q99475|Q9UES8|Q9UH79	Missense_Mutation	SNP	ENST00000529546.1	37	c.1232C>T	CCDS58274.1	.	.	.	.	.	.	.	.	.	.	C	14.38	2.517465	0.44763	.	.	ENSG00000198431	ENST00000525566;ENST00000429002;ENST00000503506;ENST00000526691;ENST00000388854;ENST00000354940;ENST00000526390;ENST00000529546;ENST00000540716;ENST00000524698;ENST00000542918;ENST00000378070;ENST00000397736;ENST00000427956;ENST00000526950	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.70749	-0.39;-0.39;-0.49;-0.49;-0.49;-0.49;-0.49;-0.3;-0.3;-0.49;-0.49;-0.41;-0.49;-0.51;-0.5	5.41	-6.43	0.01926	Pyridine nucleotide-disulphide oxidoreductase, dimerisation (1);	0.765736	0.12515	N	0.462200	T	0.72692	0.3492	M	0.78285	2.405	0.09310	N	0.999998	B;B;B;B;B;B;B	0.33103	0.166;0.087;0.397;0.076;0.005;0.136;0.087	B;B;B;B;B;B;B	0.21708	0.023;0.015;0.036;0.034;0.009;0.026;0.021	T	0.62077	-0.6930	10	0.87932	D	0	-2.3219	31.1588	0.99999	0.0:0.1428:0.8572:0.0	.	409;403;509;411;359;509;474	B7Z2S5;E2QRB9;B7Z904;Q16881-4;B2R5P6;Q16881;E7EW10	.;.;.;.;.;TRXR1_HUMAN;.	V	509;509;359;411;411;359;403;321;321;359;409;458;403;474;428	ENSP00000434516:A509V;ENSP00000412045:A509V;ENSP00000421934:A359V;ENSP00000435929:A411V;ENSP00000373506:A411V;ENSP00000347020:A359V;ENSP00000435123:A403V;ENSP00000434919:A321V;ENSP00000442709:A321V;ENSP00000433425:A359V;ENSP00000440978:A409V;ENSP00000367310:A458V;ENSP00000380844:A403V;ENSP00000393328:A474V;ENSP00000432812:A428V	ENSP00000347020:A359V	A	+	2	0	TXNRD1	103245563	0.000000	0.05858	0.000000	0.03702	0.843000	0.47879	-0.518000	0.06267	-1.122000	0.02945	0.579000	0.79373	GCA		0.488	TXNRD1-004	PUTATIVE	basic|exp_conf|CCDS|seleno	protein_coding	protein_coding	OTTHUMT00000389969.1	NM_003330		9	12	0	0	0	1	0	9	12					T	104721433	C	T	104721433	3	4	435	1	0	0	0	0	1	0	0	0	16804	710	25	3	1590	3	TXNRD1	12	104721433	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	11759	104721433	29130462	5857	26782											
ALDH1L2	160428	broad.mit.edu	37	chr12	105462663	105462663	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tatctcccataattagagtcCtgtgaaaagaagaatttcaa	16	12	6	7	0	2	4	1	1	1	3	4	4	3	4	2	0	0	0	2	0	8	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:105462663C>A	ENST00000258494.9	-	4	569		c.e4-1		ALDH1L2_ENST00000424857.2_Splice_Site	NM_001034173.3	NP_001029345.2	Q3SY69	AL1L2_HUMAN	aldehyde dehydrogenase 1 family, member L2						10-formyltetrahydrofolate catabolic process (GO:0009258)|biosynthetic process (GO:0009058)|one-carbon metabolic process (GO:0006730)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	formyltetrahydrofolate dehydrogenase activity (GO:0016155)|hydroxymethyl-, formyl- and related transferase activity (GO:0016742)|methyltransferase activity (GO:0008168)|oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor (GO:0016620)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|prostate(2)|skin(3)|stomach(2)	35						AATTAGAGTCCTGTGAAAAGA	0.333																																						ENST00000258494.9																			0				breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|prostate(2)|skin(3)|stomach(2)	35						c.e4-1		aldehyde dehydrogenase 1 family, member L2							63	66	65					12																	105462663		2203	4300	6503	SO:0001630	splice_region_variant	160428				10-formyltetrahydrofolate catabolic process|biosynthetic process	mitochondrion	acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity|phosphopantetheine binding	g.chr12:105462663C>A	AK095827	CCDS31891.1	12q23.3	2014-09-11			ENSG00000136010	ENSG00000136010	1.5.1.6	"Aldehyde dehydrogenases"	26777	protein-coding gene	gene with protein product	"mitochondrial 10-formyltetrahydrofolate dehydrogenase"	613584				20498374	Standard	NM_001034173		Approved	FLJ38508, mtFDH	uc001tlc.3	Q3SY69	OTTHUMG00000169823	ENST00000258494.9:c.429-1G>T	12.37:g.105462663C>A						ALDH1L2_ENST00000424857.2_Splice_Site		NM_001034173.3	NP_001029345.2	Q3SY69	AL1L2_HUMAN			4	569	-								Q3SY68|Q68D62|Q6AI55|Q8N922	Splice_Site	SNP	ENST00000258494.9	37		CCDS31891.1	.	.	.	.	.	.	.	.	.	.	C	25.3	4.619394	0.87460	.	.	ENSG00000136010	ENST00000258494;ENST00000424857	.	.	.	5.53	5.53	0.82687	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.6592	0.95857	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ALDH1L2	103986793	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.818000	0.86416	2.879000	0.98667	0.650000	0.86243	.		0.333	ALDH1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406098.1	XM_090294	Intron	14	24	1	0	2.61681e-11	1	2.81437e-11	14	24					A	105462663	C	A	105462663	5	1	435	1	0	0	0	0	0	0	1	0	495	695	24	5	2423	5	ALDH1L2	12	105462663	Splice_Site	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	741230	105462663	28389232	5858	26783											
CKAP4	10970	broad.mit.edu	37	chr12	106633671	106633671	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtcagactccatagtctgaaGggtacttctcagggcctcca	9	10	10	12	0	3	2	2	1	2	1	6	2	5	2	3	2	1	1	3	2	3	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:106633671G>T	ENST00000378026.4	-	2	1076	c.940C>A	c.(940-942)Ctt>Att	p.L314I	CKAP4_ENST00000552828.1_Intron	NM_006825.3	NP_006816.2	Q07065	CKAP4_HUMAN	cytoskeleton-associated protein 4	314						cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lipid particle (GO:0005811)|membrane (GO:0016020)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)			NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|pancreas(1)|urinary_tract(1)	20						ATAGTCTGAAGGGTACTTCTC	0.567																																						ENST00000378026.4																			0				NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|pancreas(1)|urinary_tract(1)	20						c.(940-942)Ctt>Att		cytoskeleton-associated protein 4							81	80	81					12																	106633671		2203	4300	6503	SO:0001583	missense	10970					ER-Golgi intermediate compartment membrane|integral to membrane|membrane fraction		g.chr12:106633671G>T	X69910	CCDS9103.1	12q23.3	2006-06-23				ENSG00000136026			16991	protein-coding gene	gene with protein product						8314870	Standard	NM_006825		Approved	P63, CLIMP-63, ERGIC-63	uc001tlk.3	Q07065		ENST00000378026.4:c.940C>A	12.37:g.106633671G>T	ENSP00000367265:p.Leu314Ile					CKAP4_ENST00000552828.1_Intron	p.L314I	NM_006825.3	NP_006816.2	Q07065	CKAP4_HUMAN			2	1076	-			314					Q504S5|Q53ES6	Missense_Mutation	SNP	ENST00000378026.4	37	c.940C>A	CCDS9103.1	.	.	.	.	.	.	.	.	.	.	G	0.426	-0.905687	0.02453	.	.	ENSG00000136026	ENST00000378026	T	0.76968	-1.06	5.58	1.74	0.24563	.	0.242332	0.37669	N	0.001995	T	0.59348	0.2187	L	0.33485	1.01	0.09310	N	1	B	0.14805	0.011	B	0.13407	0.009	T	0.42799	-0.9430	10	0.34782	T	0.22	-9.9704	1.2544	0.01988	0.1543:0.2437:0.287:0.315	.	314	Q07065	CKAP4_HUMAN	I	314	ENSP00000367265:L314I	ENSP00000367265:L314I	L	-	1	0	CKAP4	105157801	1.000000	0.71417	0.019000	0.16419	0.237000	0.25408	1.146000	0.31589	0.320000	0.23234	0.563000	0.77884	CTT		0.567	CKAP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407196.1			20	32	1	0	2.94398e-08	1	3.10271e-08	20	32					T	106633671	G	T	106633671	3	4	435	1	0	0	0	0	1	0	0	0	3444	1000	35	5	872	5	CKAP4	12	106633671	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	1171008	106633671	27218224	5859	26784											
TCP11L2	255394	broad.mit.edu	37	chr12	106729832	106729832	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acttatgacagatggagcacGtcttcaggaactaacagaaa	16	8	9	8	1	2	3	1	1	1	2	2	5	2	5	0	2	3	1	0	2	4	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:106729832G>A	ENST00000299045.3	+	8	1157	c.983G>A	c.(982-984)cGt>cAt	p.R328H		NM_152772.1	NP_689985.1	Q8N4U5	T11L2_HUMAN	t-complex 11, testis-specific-like 2	328										endometrium(2)|kidney(2)|large_intestine(5)|ovary(3)|prostate(1)|urinary_tract(2)	15						GATGGAGCACGTCTTCAGGAA	0.368																																						ENST00000299045.3																			0				endometrium(2)|kidney(2)|large_intestine(5)|ovary(3)|prostate(1)|urinary_tract(2)	15						c.(982-984)cGt>cAt		t-complex 11, testis-specific-like 2							80	71	74					12																	106729832		2203	4300	6503	SO:0001583	missense	255394							g.chr12:106729832G>A	BC033617	CCDS9104.1, CCDS66456.1	12q23.3	2014-08-12	2012-09-20		ENSG00000166046	ENSG00000166046			28627	protein-coding gene	gene with protein product			"t-complex 11 (mouse) like 2", "t-complex 11 (mouse)-like 2"				Standard	XM_005268769		Approved	MGC40368	uc001tln.3	Q8N4U5	OTTHUMG00000170087	ENST00000299045.3:c.983G>A	12.37:g.106729832G>A	ENSP00000299045:p.Arg328His						p.R328H	NM_152772.1	NP_689985.1	Q8N4U5	T11L2_HUMAN			8	1157	+			328					B2RA65|G3V1Y9	Missense_Mutation	SNP	ENST00000299045.3	37	c.983G>A	CCDS9104.1	.	.	.	.	.	.	.	.	.	.	G	25.4	4.635048	0.87760	.	.	ENSG00000166046	ENST00000299045	T	0.64618	-0.11	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	D	0.83649	0.5300	M	0.88906	2.99	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.85440	0.1154	10	0.72032	D	0.01	-7.4144	20.2602	0.98440	0.0:0.0:1.0:0.0	.	328	Q8N4U5	T11L2_HUMAN	H	328	ENSP00000299045:R328H	ENSP00000299045:R328H	R	+	2	0	TCP11L2	105253962	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	6.607000	0.74163	2.861000	0.98227	0.655000	0.94253	CGT		0.368	TCP11L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407206.1	NM_152772		5	35	0	0	0	1	0	5	35					A	106729832	G	A	106729832	3	1	435	1	0	0	0	0	1	0	0	0	15712	1145	40	1	1009	1	TCP11L2	12	106729832	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	96161	106729832	27122063	5860	26785											
POLR3B	55703	broad.mit.edu	37	chr12	106770185	106770185	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtgttcttacaggaaaaacGccagcagaatttgccaaact	14	10	8	9	1	1	1	0	0	1	1	1	2	1	2	2	1	5	2	2	1	5	3	rs376395471		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:106770185G>A	ENST00000228347.4	+	7	675	c.453G>A	c.(451-453)acG>acA	p.T151T	POLR3B_ENST00000539066.1_Silent_p.T93T	NM_018082.5	NP_060552.4	Q9NW08	RPC2_HUMAN	polymerase (RNA) III (DNA directed) polypeptide B	151					defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|positive regulation of innate immune response (GO:0045089)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of type I interferon production (GO:0032481)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase III promoter (GO:0006383)	cytosol (GO:0005829)|DNA-directed RNA polymerase III complex (GO:0005666)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|metal ion binding (GO:0046872)|ribonucleoside binding (GO:0032549)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(22)|ovary(1)|prostate(3)|skin(3)|urinary_tract(2)	57						CAGGAAAAACGCCAGCAGAAT	0.373													G|||	1	0.000199681	8e-04	0	5008	,	,		18954	0		0	False		,,,				2504	0					ENST00000228347.4																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(22)|ovary(1)|prostate(3)|skin(3)|urinary_tract(2)	57						c.(451-453)acG>acA		polymerase (RNA) III (DNA directed) polypeptide B		G	,	0,4406		0,0,2203	146	129	135		279,453	-10.9	0.8	12		135	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	POLR3B	NM_001160708.1,NM_018082.5	,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,	93/1076,151/1134	106770185	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	55703				innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|ribonucleoside binding	g.chr12:106770185G>A	AY092084	CCDS9105.1, CCDS53824.1	12q23.3	2014-08-12			ENSG00000013503	ENSG00000013503		"RNA polymerase subunits"	30348	protein-coding gene	gene with protein product		614366				12391170	Standard	NM_018082		Approved	RPC2, FLJ10388	uc001tlp.3	Q9NW08	OTTHUMG00000170077	ENST00000228347.4:c.453G>A	12.37:g.106770185G>A						POLR3B_ENST00000539066.1_Silent_p.T93T	p.T151T	NM_018082.5	NP_060552.4	Q9NW08	RPC2_HUMAN			7	675	+			151					A8K6H0|B3KV73|F5H1E6|Q9NW59	Silent	SNP	ENST00000228347.4	37	c.453G>A	CCDS9105.1																																																																																				0.373	POLR3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407166.1	NM_018082		22	36	0	0	0	1	0	22	36					A	106770185	G	A	106770185	2	1	435	1	0	0	0	0	0	0	0	1	12229	1074	38	1		1	POLR3B	12	106770185	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	40353	106770185	27081710	5861	26786											
POLR3B	55703	broad.mit.edu	37	chr12	106827517	106827517	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtaacatcttaggtgtcattCgagaccacaaaaagctagtg	14	10	9	8	1	2	1	1	0	1	1	3	2	2	1	1	1	2	2	1	1	5	4	rs267608688		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:106827517C>T	ENST00000228347.4	+	16	1870	c.1648C>T	c.(1648-1650)Cga>Tga	p.R550*	POLR3B_ENST00000539066.1_Nonsense_Mutation_p.R492*	NM_018082.5	NP_060552.4	Q9NW08	RPC2_HUMAN	polymerase (RNA) III (DNA directed) polypeptide B	550					defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|positive regulation of innate immune response (GO:0045089)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of type I interferon production (GO:0032481)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase III promoter (GO:0006383)	cytosol (GO:0005829)|DNA-directed RNA polymerase III complex (GO:0005666)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|metal ion binding (GO:0046872)|ribonucleoside binding (GO:0032549)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(22)|ovary(1)|prostate(3)|skin(3)|urinary_tract(2)	57						AGGTGTCATTCGAGACCACAA	0.323																																						ENST00000228347.4																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(22)|ovary(1)|prostate(3)|skin(3)|urinary_tract(2)	57						c.(1648-1650)Cga>Tga		polymerase (RNA) III (DNA directed) polypeptide B							103	101	102					12																	106827517		2203	4300	6503	SO:0001587	stop_gained	55703				innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|ribonucleoside binding	g.chr12:106827517C>T	AY092084	CCDS9105.1, CCDS53824.1	12q23.3	2014-08-12			ENSG00000013503	ENSG00000013503		"RNA polymerase subunits"	30348	protein-coding gene	gene with protein product		614366				12391170	Standard	NM_018082		Approved	RPC2, FLJ10388	uc001tlp.3	Q9NW08	OTTHUMG00000170077	ENST00000228347.4:c.1648C>T	12.37:g.106827517C>T	ENSP00000228347:p.Arg550*					POLR3B_ENST00000539066.1_Nonsense_Mutation_p.R492*	p.R550*	NM_018082.5	NP_060552.4	Q9NW08	RPC2_HUMAN			16	1870	+			550					A8K6H0|B3KV73|F5H1E6|Q9NW59	Nonsense_Mutation	SNP	ENST00000228347.4	37	c.1648C>T	CCDS9105.1	.	.	.	.	.	.	.	.	.	.	C	39	7.700990	0.98441	.	.	ENSG00000013503	ENST00000228347;ENST00000551370;ENST00000539066	.	.	.	6.03	4.18	0.49190	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-11.3506	15.5807	0.76432	0.252:0.748:0.0:0.0	.	.	.	.	X	550;550;492	.	ENSP00000228347:R550X	R	+	1	2	POLR3B	105351647	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	1.628000	0.37060	0.843000	0.35070	-0.152000	0.13540	CGA		0.323	POLR3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407166.1	NM_018082		15	61	0	0	0	1	0	15	61					T	106827517	C	T	106827517	4	4	435	1	0	0	0	0	0	1	0	0	12229	876	31	2	1710	2	POLR3B	12	106827517	Nonsense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	57332	106827517	27024378	5862	26787											
POLR3B	55703	broad.mit.edu	37	chr12	106857351	106857351	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aatgctgctgagacagacaaGgcgtccagaaattggagaca	15	6	12	8	1	0	4	0	1	0	4	1	6	1	4	1	2	2	2	1	2	3	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:106857351G>A	ENST00000228347.4	+	23	2888	c.2666G>A	c.(2665-2667)aGg>aAg	p.R889K	POLR3B_ENST00000539066.1_Missense_Mutation_p.R831K	NM_018082.5	NP_060552.4	Q9NW08	RPC2_HUMAN	polymerase (RNA) III (DNA directed) polypeptide B	889					defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|positive regulation of innate immune response (GO:0045089)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of type I interferon production (GO:0032481)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase III promoter (GO:0006383)	cytosol (GO:0005829)|DNA-directed RNA polymerase III complex (GO:0005666)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|metal ion binding (GO:0046872)|ribonucleoside binding (GO:0032549)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(22)|ovary(1)|prostate(3)|skin(3)|urinary_tract(2)	57						AGACAGACAAGGCGTCCAGAA	0.358																																						ENST00000228347.4																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(22)|ovary(1)|prostate(3)|skin(3)|urinary_tract(2)	57						c.(2665-2667)aGg>aAg		polymerase (RNA) III (DNA directed) polypeptide B							77	75	75					12																	106857351		2203	4300	6503	SO:0001583	missense	55703				innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|ribonucleoside binding	g.chr12:106857351G>A	AY092084	CCDS9105.1, CCDS53824.1	12q23.3	2014-08-12			ENSG00000013503	ENSG00000013503		"RNA polymerase subunits"	30348	protein-coding gene	gene with protein product		614366				12391170	Standard	NM_018082		Approved	RPC2, FLJ10388	uc001tlp.3	Q9NW08	OTTHUMG00000170077	ENST00000228347.4:c.2666G>A	12.37:g.106857351G>A	ENSP00000228347:p.Arg889Lys					POLR3B_ENST00000539066.1_Missense_Mutation_p.R831K	p.R889K	NM_018082.5	NP_060552.4	Q9NW08	RPC2_HUMAN			23	2888	+			889					A8K6H0|B3KV73|F5H1E6|Q9NW59	Missense_Mutation	SNP	ENST00000228347.4	37	c.2666G>A	CCDS9105.1	.	.	.	.	.	.	.	.	.	.	G	31	5.070151	0.93950	.	.	ENSG00000013503	ENST00000228347;ENST00000539066	D;D	0.84660	-1.88;-1.88	5.59	5.59	0.84812	RNA polymerase Rpb2, OB-fold (1);DNA-directed RNA polymerase, subunit 2, domain 6 (1);	0.038679	0.85682	D	0.000000	D	0.92893	0.7739	M	0.80616	2.505	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.92488	0.5998	10	0.49607	T	0.09	-23.5444	19.5856	0.95488	0.0:0.0:1.0:0.0	.	889	Q9NW08	RPC2_HUMAN	K	889;831	ENSP00000228347:R889K;ENSP00000445721:R831K	ENSP00000228347:R889K	R	+	2	0	POLR3B	105381481	1.000000	0.71417	0.892000	0.35008	0.641000	0.38312	9.827000	0.99397	2.625000	0.88918	0.555000	0.69702	AGG		0.358	POLR3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407166.1	NM_018082		18	43	0	0	0	1	0	18	43					A	106857351	G	A	106857351	3	1	435	1	0	0	0	0	1	0	0	0	12229	1000	35	3	2756	3	POLR3B	12	106857351	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	29834	106857351	26994544	5863	26788											
RFX4	5992	broad.mit.edu	37	chr12	106995083	106995083	+	Intron	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aaggagagcccaccctggtgCgggaggcgacaggaccaggc	10	2	17	12	2	0	1	0	0	0	1	0	5	0	3	3	6	2	0	3	6	1	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:106995083C>T	ENST00000392842.1	+	2	457				RP11-144F15.1_ENST00000551505.1_Intron|RFX4_ENST00000357881.4_Missense_Mutation_p.A10V	NM_213594.2	NP_998759.1	Q33E94	RFX4_HUMAN	regulatory factor X, 4 (influences HLA class II expression)						cerebellar cortex morphogenesis (GO:0021696)|cilium assembly (GO:0042384)|dorsal spinal cord development (GO:0021516)|midbrain development (GO:0030901)|negative regulation of smoothened signaling pathway involved in ventral spinal cord patterning (GO:0021914)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of protein processing (GO:0070613)|telencephalon development (GO:0021537)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(20)|pancreas(1)|upper_aerodigestive_tract(1)	35						CACCCTGGTGCGGGAGGCGAC	0.647																																						ENST00000357881.4																			0				NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(20)|pancreas(1)|upper_aerodigestive_tract(1)	35						c.(28-30)gCg>gTg		regulatory factor X, 4 (influences HLA class II expression)							43	34	37					12																	106995083		2200	4292	6492	SO:0001627	intron_variant	5992				transcription, DNA-dependent	nucleus	DNA binding	g.chr12:106995083C>T	AB044245	CCDS9106.1, CCDS9108.1, CCDS55880.1	12q24	2008-08-05			ENSG00000111783	ENSG00000111783			9985	protein-coding gene	gene with protein product		603958				8600444, 11682486	Standard	NM_213594		Approved		uc001tlt.3	Q33E94	OTTHUMG00000169173	ENST00000392842.1:c.44-7492C>T	12.37:g.106995083C>T						RFX4_ENST00000392842.1_Intron|RP11-144F15.1_ENST00000551505.1_Intron	p.A10V	NM_001206691.1	NP_001193620.1	Q33E94	RFX4_HUMAN			1	169	+			0					A8K5Y0|B2RDW4|Q33DW6|Q33DW7|Q33E95|Q6YM53|Q8MHQ1|Q8NC78|Q8NDF9|Q8SNA1|Q96S80|Q9BXI0	Missense_Mutation	SNP	ENST00000392842.1	37	c.29C>T	CCDS9106.1	.	.	.	.	.	.	.	.	.	.	C	12.17	1.856915	0.32791	.	.	ENSG00000111783	ENST00000357881;ENST00000266774	T	0.64085	-0.08	3.97	0.0525	0.14302	.	.	.	.	.	T	0.33962	0.0881	N	0.08118	0	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.14587	-1.0467	9	0.27785	T	0.31	23.7767	3.0877	0.06283	0.1901:0.4921:0.0:0.3177	.	10;10	Q33E94-2;Q33E94-4	.;.	V	10	ENSP00000350552:A10V	ENSP00000266774:A10V	A	+	2	0	RFX4	105519213	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.153000	0.16323	-0.004000	0.14419	0.609000	0.83330	GCG		0.647	RFX4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402707.1	NM_032491		5	16	0	0	0	1	0	5	16					T	106995083	C	T	106995083	1	4	435	0	1	0	0	0	0	0	0	0	13265	768	27	1		1	RFX4	12	106995083	Intron	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	137732	106995083	26856812	5864	26789											
RFX4	5992	broad.mit.edu	37	chr12	107078653	107078653	+	Intron	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agaaggcattcagatagattCgagatgcccactaagcagaa	16	7	10	8	1	1	5	1	0	0	5	2	6	1	5	1	1	2	2	1	1	4	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:107078653C>T	ENST00000392842.1	+	6	791				RFX4_ENST00000229387.5_Missense_Mutation_p.S21L|RP11-482D24.2_ENST00000547531.1_RNA|RP11-144F15.1_ENST00000551505.1_Intron|RFX4_ENST00000357881.4_Intron	NM_213594.2	NP_998759.1	Q33E94	RFX4_HUMAN	regulatory factor X, 4 (influences HLA class II expression)						cerebellar cortex morphogenesis (GO:0021696)|cilium assembly (GO:0042384)|dorsal spinal cord development (GO:0021516)|midbrain development (GO:0030901)|negative regulation of smoothened signaling pathway involved in ventral spinal cord patterning (GO:0021914)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of protein processing (GO:0070613)|telencephalon development (GO:0021537)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)	p.S21L(1)		NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(20)|pancreas(1)|upper_aerodigestive_tract(1)	35						cagatagattcgagatgccca	0.478																																						ENST00000229387.5																			1	Substitution - Missense(1)	p.S21L(1)	breast(1)	NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(20)|pancreas(1)|upper_aerodigestive_tract(1)	35						c.(61-63)tCg>tTg		regulatory factor X, 4 (influences HLA class II expression)							72	60	64					12																	107078653		2203	4300	6503	SO:0001627	intron_variant	5992				transcription, DNA-dependent	nucleus	DNA binding	g.chr12:107078653C>T	AB044245	CCDS9106.1, CCDS9108.1, CCDS55880.1	12q24	2008-08-05			ENSG00000111783	ENSG00000111783			9985	protein-coding gene	gene with protein product		603958				8600444, 11682486	Standard	NM_213594		Approved		uc001tlt.3	Q33E94	OTTHUMG00000169173	ENST00000392842.1:c.378-2009C>T	12.37:g.107078653C>T						RFX4_ENST00000357881.4_Intron|RFX4_ENST00000392842.1_Intron|RP11-144F15.1_ENST00000551505.1_Intron	p.S21L	NM_032491.5	NP_115880.2	Q33E94	RFX4_HUMAN			1	180	+			369					A8K5Y0|B2RDW4|Q33DW6|Q33DW7|Q33E95|Q6YM53|Q8MHQ1|Q8NC78|Q8NDF9|Q8SNA1|Q96S80|Q9BXI0	Missense_Mutation	SNP	ENST00000392842.1	37	c.62C>T	CCDS9106.1	.	.	.	.	.	.	.	.	.	.	C	1.339	-0.594727	0.03771	.	.	ENSG00000111783	ENST00000552866;ENST00000229387	T;T	0.78246	-1.16;0.92	4.44	2.57	0.30868	.	.	.	.	.	T	0.59390	0.2190	N	0.08118	0	0.09310	N	1	B	0.17268	0.021	B	0.19148	0.024	T	0.54583	-0.8272	9	0.87932	D	0	.	9.6254	0.39748	0.3807:0.6193:0.0:0.0	.	21	B2RDW4	.	L	21	ENSP00000447904:S21L;ENSP00000229387:S21L	ENSP00000229387:S21L	S	+	2	0	RFX4	105602783	0.001000	0.12720	0.002000	0.10522	0.011000	0.07611	0.912000	0.28597	0.771000	0.33359	0.655000	0.94253	TCG		0.478	RFX4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402707.1	NM_032491		7	11	0	0	0	1	0	7	11					T	107078653	C	T	107078653	1	4	435	0	1	0	0	0	0	0	0	0	13265	893	31	2		2	RFX4	12	107078653	Intron	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	83570	107078653	26773242	5865	26790											
RFX4	5992	broad.mit.edu	37	chr12	107080708	107080708	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aagaaagctcccaatattatGatgtgatgtattccaagaaa	17	11	7	6	0	0	4	0	2	0	2	2	4	2	4	2	0	1	2	2	0	8	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:107080708G>A	ENST00000392842.1	+	6	838	c.424G>A	c.(424-426)Gat>Aat	p.D142N	RFX4_ENST00000229387.5_Missense_Mutation_p.D48N|RP11-482D24.2_ENST00000547531.1_RNA|RP11-144F15.1_ENST00000551505.1_Intron|RFX4_ENST00000357881.4_Missense_Mutation_p.D151N	NM_213594.2	NP_998759.1	Q33E94	RFX4_HUMAN	regulatory factor X, 4 (influences HLA class II expression)	142					cerebellar cortex morphogenesis (GO:0021696)|cilium assembly (GO:0042384)|dorsal spinal cord development (GO:0021516)|midbrain development (GO:0030901)|negative regulation of smoothened signaling pathway involved in ventral spinal cord patterning (GO:0021914)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of protein processing (GO:0070613)|telencephalon development (GO:0021537)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(20)|pancreas(1)|upper_aerodigestive_tract(1)	35						CCAATATTATGATGTGATGTA	0.478																																						ENST00000392842.1																			0				NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(20)|pancreas(1)|upper_aerodigestive_tract(1)	35						c.(424-426)Gat>Aat		regulatory factor X, 4 (influences HLA class II expression)							144	143	143					12																	107080708		2203	4300	6503	SO:0001583	missense	5992				transcription, DNA-dependent	nucleus	DNA binding	g.chr12:107080708G>A	AB044245	CCDS9106.1, CCDS9108.1, CCDS55880.1	12q24	2008-08-05			ENSG00000111783	ENSG00000111783			9985	protein-coding gene	gene with protein product		603958				8600444, 11682486	Standard	NM_213594		Approved		uc001tlt.3	Q33E94	OTTHUMG00000169173	ENST00000392842.1:c.424G>A	12.37:g.107080708G>A	ENSP00000376585:p.Asp142Asn					RFX4_ENST00000229387.5_Missense_Mutation_p.D48N|RFX4_ENST00000357881.4_Missense_Mutation_p.D151N|RP11-144F15.1_ENST00000551505.1_Intron	p.D142N	NM_213594.2	NP_998759.1	Q33E94	RFX4_HUMAN			6	838	+			142					A8K5Y0|B2RDW4|Q33DW6|Q33DW7|Q33E95|Q6YM53|Q8MHQ1|Q8NC78|Q8NDF9|Q8SNA1|Q96S80|Q9BXI0	Missense_Mutation	SNP	ENST00000392842.1	37	c.424G>A	CCDS9106.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.059058	0.76074	.	.	ENSG00000111783	ENST00000392842;ENST00000549040;ENST00000357881;ENST00000266774;ENST00000551640;ENST00000552866;ENST00000229387	T;D;T;D;T;T	0.86230	-0.13;-1.96;-0.13;-2.09;-1.14;0.85	5.75	5.75	0.90469	.	0.101598	0.64402	D	0.000001	D	0.90424	0.7002	L	0.34521	1.04	0.80722	D	1	D;D;D;D	0.76494	0.999;0.998;0.996;0.993	D;D;D;D	0.78314	0.973;0.991;0.987;0.971	D	0.89195	0.3553	10	0.38643	T	0.18	-19.4761	19.9598	0.97242	0.0:0.0:1.0:0.0	.	48;151;151;142	B2RDW4;Q33E94-2;Q33E94-4;Q33E94	.;.;.;RFX4_HUMAN	N	142;59;151;151;87;48;48	ENSP00000376585:D142N;ENSP00000447735:D59N;ENSP00000350552:D151N;ENSP00000448694:D87N;ENSP00000447904:D48N;ENSP00000229387:D48N	ENSP00000229387:D48N	D	+	1	0	RFX4	105604838	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.634000	0.83273	2.716000	0.92895	0.655000	0.94253	GAT		0.478	RFX4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402707.1	NM_032491		33	50	0	0	0	1	0	33	50					A	107080708	G	A	107080708	3	1	435	1	0	0	0	0	1	0	0	0	13265	1290	45	3	619	3	RFX4	12	107080708	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	2055	107080708	26771187	5866	26791											
BTBD11	121551	broad.mit.edu	37	chr12	108004005	108004005	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgcatctcgaaagctggatgCggtggccatcgaagccaagt	10	8	13	10	3	1	0	0	0	1	0	3	3	1	1	2	3	4	2	2	3	3	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:108004005C>T	ENST00000280758.5	+	5	2210	c.1682C>T	c.(1681-1683)gCg>gTg	p.A561V	BTBD11_ENST00000357167.4_Missense_Mutation_p.A98V|BTBD11_ENST00000490090.2_Missense_Mutation_p.A561V|BTBD11_ENST00000420571.2_Missense_Mutation_p.A561V|RP11-128P10.1_ENST00000548473.1_RNA	NM_001018072.1	NP_001018082.1	A6QL63	BTBDB_HUMAN	BTB (POZ) domain containing 11	561						integral component of membrane (GO:0016021)				NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(18)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						AAGCTGGATGCGGTGGCCATC	0.582											OREG0022090	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000280758.5																			0				NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(18)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						c.(1681-1683)gCg>gTg		BTB (POZ) domain containing 11							137	119	125					12																	108004005		2203	4300	6503	SO:0001583	missense	121551					integral to membrane	DNA binding	g.chr12:108004005C>T	AK091276	CCDS31893.1, CCDS41827.1	12q24.11	2013-10-02			ENSG00000151136	ENSG00000151136		"BTB/POZ domain containing", "Ankyrin repeat domain containing"	23844	protein-coding gene	gene with protein product							Standard	XM_005268645		Approved	FLJ33957, ABTB2B	uc001tmk.1	A6QL63	OTTHUMG00000150413	ENST00000280758.5:c.1682C>T	12.37:g.108004005C>T	ENSP00000280758:p.Ala561Val		OREG0022090	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	21	BTBD11_ENST00000357167.4_Missense_Mutation_p.A98V|BTBD11_ENST00000420571.2_Missense_Mutation_p.A561V|RP11-128P10.1_ENST00000548473.1_RNA|BTBD11_ENST00000490090.2_Missense_Mutation_p.A561V	p.A561V	NM_001018072.1	NP_001018082.1	A6QL63	BTBDB_HUMAN			5	2210	+			561					A4FU41|B3KXG3|C9J019|C9JK80|E9PHS4|Q3ZTQ4|Q52M89|Q6ZV99|Q8N245	Missense_Mutation	SNP	ENST00000280758.5	37	c.1682C>T	CCDS31893.1	.	.	.	.	.	.	.	.	.	.	C	34	5.343882	0.95807	.	.	ENSG00000151136	ENST00000280758;ENST00000420571;ENST00000490090;ENST00000550706;ENST00000415943;ENST00000357167	T;T;T;T;T;T	0.51071	1.16;1.23;1.2;0.73;0.72;0.96	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	T	0.51550	0.1681	N	0.08118	0	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.83275	0.994;0.986;0.996;0.988	T	0.59669	-0.7411	10	0.42905	T	0.14	.	19.3929	0.94592	0.0:1.0:0.0:0.0	.	561;98;561;561	A6QL63-2;E9PHS4;A6QL63;A6QL63-3	.;.;BTBDB_HUMAN;.	V	561;561;561;192;195;98	ENSP00000280758:A561V;ENSP00000413889:A561V;ENSP00000447319:A561V;ENSP00000447606:A192V;ENSP00000407416:A195V;ENSP00000349690:A98V	ENSP00000280758:A561V	A	+	2	0	BTBD11	106528135	1.000000	0.71417	0.979000	0.43373	0.886000	0.51366	7.773000	0.85462	2.572000	0.86782	0.462000	0.41574	GCG		0.582	BTBD11-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318003.1	NM_152322		40	58	0	0	0	1	0	40	58					T	108004005	C	T	108004005	3	4	435	1	0	0	0	0	1	0	0	0	1539	768	27	1	1805	1	BTBD11	12	108004005	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	923297	108004005	25847890	5867	26792											
ASCL4	121549	broad.mit.edu	37	chr12	108169399	108169399	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagcgccaggcctgggggcTcgagggcgcggccggcgccg	3	2	22	14	7	0	0	0	0	0	0	1	2	0	1	4	7	1	1	4	7	0	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:108169399T>C	ENST00000342331.4	+	1	1238	c.407T>C	c.(406-408)cTc>cCc	p.L136P		NM_203436.2	NP_982260.2	Q6XD76	ASCL4_HUMAN	achaete-scute family bHLH transcription factor 4	135					regulation of transcription from RNA polymerase II promoter (GO:0006357)|skin development (GO:0043588)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(2)|central_nervous_system(1)|large_intestine(3)|lung(6)|upper_aerodigestive_tract(1)	13						GCCTGGGGGCTCGAGGGCGCG	0.706																																					GBM(170;776 3695 11650)	ENST00000342331.4																			0				breast(2)|central_nervous_system(1)|large_intestine(3)|lung(6)|upper_aerodigestive_tract(1)	13						c.(406-408)cTc>cCc		achaete-scute family bHLH transcription factor 4							5	7	6					12																	108169399		2026	4012	6038	SO:0001583	missense	121549				regulation of transcription from RNA polymerase II promoter|skin development|transcription, DNA-dependent	nucleus	DNA binding	g.chr12:108169399T>C	AY238895	CCDS31894.2	12q24.11	2013-10-17	2013-10-17		ENSG00000187855	ENSG00000187855		"Basic helix-loop-helix proteins"	24311	protein-coding gene	gene with protein product		609155	"achaete-scute complex-like 4 (Drosophila)", "achaete-scute complex homolog 4 (Drosophila)"				Standard	NM_203436		Approved	HASH4, bHLHa44	uc001tmr.3	Q6XD76	OTTHUMG00000156964	ENST00000342331.4:c.407T>C	12.37:g.108169399T>C	ENSP00000345420:p.Leu136Pro						p.L136P	NM_203436.2	NP_982260.2	Q6XD76	ASCL4_HUMAN			1	1238	+			135					Q7RTS2	Missense_Mutation	SNP	ENST00000342331.4	37	c.407T>C	CCDS31894.2	.	.	.	.	.	.	.	.	.	.	T	3.270	-0.149270	0.06585	.	.	ENSG00000187855	ENST00000342331	D	0.89196	-2.48	3.81	-7.62	0.01294	Helix-loop-helix DNA-binding (1);	29.383200	0.01029	N	0.004110	T	0.68815	0.3042	N	0.02539	-0.55	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.65429	-0.6170	10	0.30078	T	0.28	-28.6862	3.1025	0.06330	0.1692:0.4401:0.1334:0.2573	.	135	Q6XD76	ASCL4_HUMAN	P	136	ENSP00000345420:L136P	ENSP00000345420:L136P	L	+	2	0	ASCL4	106693529	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	-0.150000	0.10189	-2.715000	0.00391	-0.696000	0.03686	CTC		0.706	ASCL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346845.1	NM_203436		3	6	0	0	0	1	0	3	6					C	108169399	T	C	108169399	3	2	435	1	0	0	0	0	1	0	0	0	1036	1551	54	4	409	4	ASCL4	12	108169399	Missense_Mutation	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	165394	108169399	25682496	5868	26793											
ASCL4	121549	broad.mit.edu	37	chr12	108169471	108169471	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cggggagtccaaggcctcttCggcgccttcgcccagcagcg	5	6	14	16	5	1	0	0	0	1	0	4	1	2	1	4	4	2	1	4	4	1	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:108169471C>T	ENST00000342331.4	+	1	1310	c.479C>T	c.(478-480)tCg>tTg	p.S160L		NM_203436.2	NP_982260.2	Q6XD76	ASCL4_HUMAN	achaete-scute family bHLH transcription factor 4	159					regulation of transcription from RNA polymerase II promoter (GO:0006357)|skin development (GO:0043588)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(2)|central_nervous_system(1)|large_intestine(3)|lung(6)|upper_aerodigestive_tract(1)	13						AAGGCCTCTTCGGCGCCTTCG	0.781																																					GBM(170;776 3695 11650)	ENST00000342331.4																			0				breast(2)|central_nervous_system(1)|large_intestine(3)|lung(6)|upper_aerodigestive_tract(1)	13						c.(478-480)tCg>tTg		achaete-scute family bHLH transcription factor 4							5	7	7					12																	108169471		1883	3934	5817	SO:0001583	missense	121549				regulation of transcription from RNA polymerase II promoter|skin development|transcription, DNA-dependent	nucleus	DNA binding	g.chr12:108169471C>T	AY238895	CCDS31894.2	12q24.11	2013-10-17	2013-10-17		ENSG00000187855	ENSG00000187855		"Basic helix-loop-helix proteins"	24311	protein-coding gene	gene with protein product		609155	"achaete-scute complex-like 4 (Drosophila)", "achaete-scute complex homolog 4 (Drosophila)"				Standard	NM_203436		Approved	HASH4, bHLHa44	uc001tmr.3	Q6XD76	OTTHUMG00000156964	ENST00000342331.4:c.479C>T	12.37:g.108169471C>T	ENSP00000345420:p.Ser160Leu						p.S160L	NM_203436.2	NP_982260.2	Q6XD76	ASCL4_HUMAN			1	1310	+			159					Q7RTS2	Missense_Mutation	SNP	ENST00000342331.4	37	c.479C>T	CCDS31894.2	.	.	.	.	.	.	.	.	.	.	C	12.94	2.088054	0.36855	.	.	ENSG00000187855	ENST00000342331	D	0.96992	-4.2	4.61	2.73	0.32206	.	0.503904	0.18407	N	0.142168	D	0.89543	0.6745	N	0.19112	0.55	0.28765	N	0.900669	B	0.22211	0.066	B	0.14023	0.01	T	0.81064	-0.1102	10	0.24483	T	0.36	-18.1015	5.872	0.18809	0.0:0.6532:0.1803:0.1665	.	159	Q6XD76	ASCL4_HUMAN	L	160	ENSP00000345420:S160L	ENSP00000345420:S160L	S	+	2	0	ASCL4	106693601	0.951000	0.32395	0.956000	0.39512	0.238000	0.25445	1.749000	0.38319	1.043000	0.40175	0.491000	0.48974	TCG		0.781	ASCL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346845.1	NM_203436		4	8	0	0	0	1	0	4	8					T	108169471	C	T	108169471	3	4	435	1	0	0	0	0	1	0	0	0	1036	893	31	2	481	2	ASCL4	12	108169471	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	72	108169471	25682424	5869	26794											
CMKLR1	1240	broad.mit.edu	37	chr12	108685777	108685777	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	accttgaacttcttgaagtcCtgacccatgaaaacatacag	14	10	6	11	0	1	4	0	4	1	0	2	4	2	4	3	0	3	0	3	0	5	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:108685777C>A	ENST00000312143.7	-	3	1326	c.963G>T	c.(961-963)caG>caT	p.Q321H	CMKLR1_ENST00000412676.1_Missense_Mutation_p.Q321H|CMKLR1_ENST00000552995.1_Missense_Mutation_p.Q319H|CMKLR1_ENST00000397688.2_Missense_Mutation_p.Q319H|CMKLR1_ENST00000550402.1_Missense_Mutation_p.Q321H	NM_001142344.1|NM_004072.2	NP_001135816.1|NP_004063.1	Q99788	CML1_HUMAN	chemokine-like receptor 1	321					chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of macrophage chemotaxis (GO:0010759)|regulation of calcium-mediated signaling (GO:0050848)|skeletal system development (GO:0001501)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	chemokine receptor activity (GO:0004950)|G-protein coupled receptor activity (GO:0004930)|receptor activity (GO:0004872)			endometrium(5)|large_intestine(3)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	37						TCTTGAAGTCCTGACCCATGA	0.532																																						ENST00000397688.2																			0				endometrium(5)|large_intestine(3)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	37						c.(955-957)caG>caT		chemokine-like receptor 1							85	86	86					12																	108685777		1974	4158	6132	SO:0001583	missense	1240				chemotaxis|immune response|negative regulation of interleukin-12 production|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage chemotaxis|regulation of calcium-mediated signaling|skeletal system development	integral to plasma membrane	chemokine receptor activity	g.chr12:108685777C>A	U79526	CCDS41829.1, CCDS44965.1	12q23.3	2013-07-29			ENSG00000174600	ENSG00000174600		"GPCR / Class A : Resolvin receptors"	2121	protein-coding gene	gene with protein product	"resolvin E1 receptor", "chemerin receptor"	602351					Standard	NM_004072		Approved	RVER1	uc009zuw.3	Q99788	OTTHUMG00000169576	ENST00000312143.7:c.963G>T	12.37:g.108685777C>A	ENSP00000311733:p.Gln321His					CMKLR1_ENST00000552995.1_Missense_Mutation_p.Q319H|CMKLR1_ENST00000550402.1_Missense_Mutation_p.Q321H|CMKLR1_ENST00000412676.1_Missense_Mutation_p.Q321H|CMKLR1_ENST00000312143.7_Missense_Mutation_p.Q321H	p.Q319H	NM_004072.2	NP_004063.1	Q99788	CML1_HUMAN			3	1326	-			321					A8K6Y5|O75748|Q3KP37|Q5U0H0|Q99789	Missense_Mutation	SNP	ENST00000312143.7	37	c.957G>T	CCDS44965.1	.	.	.	.	.	.	.	.	.	.	c	10.45	1.353310	0.24512	.	.	ENSG00000174600	ENST00000312143;ENST00000412676;ENST00000397688;ENST00000552995;ENST00000550402	T;T;T;T;T	0.38077	1.16;1.16;1.16;1.16;1.16	5.36	3.49	0.39957	.	0.282245	0.34802	N	0.003667	T	0.24236	0.0587	L	0.28192	0.835	0.34273	D	0.681268	B	0.12013	0.005	B	0.15484	0.013	T	0.22556	-1.0213	10	0.41790	T	0.15	.	9.4019	0.38437	0.0:0.7688:0.1516:0.0796	.	321	Q99788	CML1_HUMAN	H	321;321;319;319;321	ENSP00000311733:Q321H;ENSP00000401293:Q321H;ENSP00000380803:Q319H;ENSP00000447579:Q319H;ENSP00000449716:Q321H	ENSP00000311733:Q321H	Q	-	3	2	CMKLR1	107209907	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	0.911000	0.28584	1.210000	0.43336	0.556000	0.70494	CAG		0.532	CMKLR1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000404867.1			27	31	1	0	3.65163e-15	1	3.99483e-15	27	31					A	108685777	C	A	108685777	3	1	435	1	0	0	0	0	1	0	0	0	3579	680	24	5	162	5	CMKLR1	12	108685777	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	516306	108685777	25166118	5870	26795											
FICD	11153	broad.mit.edu	37	chr12	108912734	108912734	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcgcatcggctccgtcaccAtcagcgacgtgctggagatc	7	7	12	15	6	2	1	2	0	0	1	5	3	3	1	2	2	2	3	2	2	0	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:108912734A>G	ENST00000552695.1	+	3	1094	c.859A>G	c.(859-861)Atc>Gtc	p.I287V	FICD_ENST00000361549.2_3'UTR	NM_007076.2	NP_009007.2	Q9BVA6	FICD_HUMAN	FIC domain containing	287	Fido. {ECO:0000255|PROSITE- ProRule:PRU00791}.				negative regulation of Rho GTPase activity (GO:0034259)|protein adenylylation (GO:0018117)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|protein adenylyltransferase activity (GO:0070733)			NS(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(1)|prostate(1)|upper_aerodigestive_tract(2)	15						CTCCGTCACCATCAGCGACGT	0.612																																						ENST00000552695.1																			0				NS(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(1)|prostate(1)|upper_aerodigestive_tract(2)	15						c.(859-861)Atc>Gtc		FIC domain containing							73	51	59					12																	108912734		2203	4300	6503	SO:0001583	missense	11153				negative regulation of Rho GTPase activity	integral to membrane	binding|protein adenylyltransferase activity	g.chr12:108912734A>G	AF049611	CCDS9116.1	12q24.1	2007-12-05				ENSG00000198855			18416	protein-coding gene	gene with protein product	"huntingtin interacting protein 13", "fic S-phase protein cell division homolog (E. coli)"					9700202	Standard	NM_007076		Approved	HYPE, HIP13	uc001tmx.1	Q9BVA6		ENST00000552695.1:c.859A>G	12.37:g.108912734A>G	ENSP00000446479:p.Ile287Val					FICD_ENST00000361549.2_3'UTR	p.I287V	NM_007076.2	NP_009007.2	Q9BVA6	FICD_HUMAN			3	1094	+			287			Fido.		O75406	Missense_Mutation	SNP	ENST00000552695.1	37	c.859A>G	CCDS9116.1	.	.	.	.	.	.	.	.	.	.	A	0.009	-1.850452	0.00563	.	.	ENSG00000198855	ENST00000552695	.	.	.	6.02	2.28	0.28536	Filamentation induced by cAMP/death on curing-related (3);	0.314276	0.38548	N	0.001643	T	0.25865	0.0630	N	0.05031	-0.125	0.80722	D	1	B	0.02656	0.0	B	0.08055	0.003	T	0.04427	-1.0952	9	0.14656	T	0.56	0.1368	8.6327	0.33928	0.5652:0.3695:0.0653:0.0	.	287	Q9BVA6	FICD_HUMAN	V	287	.	ENSP00000446479:I287V	I	+	1	0	FICD	107436864	1.000000	0.71417	0.266000	0.24541	0.056000	0.15407	2.360000	0.44151	0.144000	0.18951	0.533000	0.62120	ATC		0.612	FICD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404842.1	NM_007076		6	18	0	0	0	1	0	6	18					G	108912734	A	G	108912734	3	3	435	1	0	0	0	0	1	0	0	0	5887	217	8	4	865	4	FICD	12	108912734	Missense_Mutation	SNP	A	TCGA-XK-AAIW-01A-11D-A41K-08	226957	108912734	24939161	5871	26796											
SSH1	54434	broad.mit.edu	37	chr12	109182100	109182100	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cggacactgtggatgctatcGctgctggagctccgggtcag	6	9	15	11	3	1	0	1	0	0	0	3	3	2	3	1	4	3	4	1	4	1	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:109182100G>A	ENST00000326495.5	-	15	2907	c.2814C>T	c.(2812-2814)agC>agT	p.S938S	SSH1_ENST00000360239.3_Silent_p.S626S	NM_018984.3	NP_061857.3	Q8WYL5	SSH1_HUMAN	slingshot protein phosphatase 1	938	Interaction with YWHAG.				actin cytoskeleton organization (GO:0030036)|cell morphogenesis (GO:0000902)|cellular response to ATP (GO:0071318)|protein dephosphorylation (GO:0006470)|regulation of actin polymerization or depolymerization (GO:0008064)|regulation of axonogenesis (GO:0050770)|regulation of cellular protein metabolic process (GO:0032268)|regulation of lamellipodium assembly (GO:0010591)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|DNA binding (GO:0003677)|phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(8)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						GGATGCTATCGCTGCTGGAGC	0.602																																						ENST00000326495.5																			0				breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(8)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						c.(2812-2814)agC>agT		slingshot protein phosphatase 1							60	65	63					12																	109182100		2202	4295	6497	SO:0001819	synonymous_variant	54434				actin cytoskeleton organization|cell morphogenesis|cellular response to ATP|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of cellular protein metabolic process|regulation of lamellipodium assembly	cleavage furrow|cytoplasm|cytoskeleton|lamellipodium|midbody|plasma membrane	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr12:109182100G>A	BC062341	CCDS9121.1, CCDS53825.1, CCDS55882.1	12q24.12	2013-03-05	2013-03-05			ENSG00000084112		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Slingshots"	30579	protein-coding gene	gene with protein product		606778	"slingshot homolog 1 (Drosophila)"			10718198, 11832213	Standard	NM_018984		Approved	KIAA1298	uc001tnm.3	Q8WYL5	OTTHUMG00000169371	ENST00000326495.5:c.2814C>T	12.37:g.109182100G>A						SSH1_ENST00000360239.3_Silent_p.S626S	p.S938S	NM_018984.3	NP_061857.3	Q8WYL5	SSH1_HUMAN			15	2907	-			938			Interaction with YWHAG.		Q6P6C0|Q8N9A7|Q8WYL3|Q8WYL4|Q9P2P8	Silent	SNP	ENST00000326495.5	37	c.2814C>T	CCDS9121.1																																																																																				0.602	SSH1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000403724.1	NM_018984		31	37	0	0	0	1	0	31	37					A	109182100	G	A	109182100	2	1	435	1	0	0	0	0	0	0	0	1	15183	1078	38	1		1	SSH1	12	109182100	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	269366	109182100	24669795	5872	26797											
SSH1	54434	broad.mit.edu	37	chr12	109182308	109182308	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ggctgggcataaccagggggCccagctcgtggagcgcggct	6	5	18	12	3	0	0	0	0	0	0	1	1	0	1	2	6	3	4	2	6	1	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:109182308C>T	ENST00000326495.5	-	15	2699	c.2606G>A	c.(2605-2607)gGc>gAc	p.G869D	SSH1_ENST00000360239.3_Missense_Mutation_p.G557D	NM_018984.3	NP_061857.3	Q8WYL5	SSH1_HUMAN	slingshot protein phosphatase 1	869					actin cytoskeleton organization (GO:0030036)|cell morphogenesis (GO:0000902)|cellular response to ATP (GO:0071318)|protein dephosphorylation (GO:0006470)|regulation of actin polymerization or depolymerization (GO:0008064)|regulation of axonogenesis (GO:0050770)|regulation of cellular protein metabolic process (GO:0032268)|regulation of lamellipodium assembly (GO:0010591)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|DNA binding (GO:0003677)|phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(8)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						AACCAGGGGGCCCAGCTCGTG	0.672																																						ENST00000326495.5																			0				breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(8)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						c.(2605-2607)gGc>gAc		slingshot protein phosphatase 1							21	26	24					12																	109182308		2202	4297	6499	SO:0001583	missense	54434				actin cytoskeleton organization|cell morphogenesis|cellular response to ATP|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of cellular protein metabolic process|regulation of lamellipodium assembly	cleavage furrow|cytoplasm|cytoskeleton|lamellipodium|midbody|plasma membrane	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr12:109182308C>T	BC062341	CCDS9121.1, CCDS53825.1, CCDS55882.1	12q24.12	2013-03-05	2013-03-05			ENSG00000084112		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Slingshots"	30579	protein-coding gene	gene with protein product		606778	"slingshot homolog 1 (Drosophila)"			10718198, 11832213	Standard	NM_018984		Approved	KIAA1298	uc001tnm.3	Q8WYL5	OTTHUMG00000169371	ENST00000326495.5:c.2606G>A	12.37:g.109182308C>T	ENSP00000315713:p.Gly869Asp					SSH1_ENST00000360239.3_Missense_Mutation_p.G557D	p.G869D	NM_018984.3	NP_061857.3	Q8WYL5	SSH1_HUMAN			15	2699	-			869					Q6P6C0|Q8N9A7|Q8WYL3|Q8WYL4|Q9P2P8	Missense_Mutation	SNP	ENST00000326495.5	37	c.2606G>A	CCDS9121.1	.	.	.	.	.	.	.	.	.	.	C	0.105	-1.146431	0.01714	.	.	ENSG00000084112	ENST00000360239;ENST00000326495	T;T	0.11604	2.92;2.76	4.69	1.72	0.24424	.	4.361770	0.00357	N	0.000030	T	0.05318	0.0141	N	0.08118	0	0.09310	N	1	B;P	0.37276	0.047;0.589	B;B	0.33620	0.015;0.167	T	0.29212	-1.0019	10	0.12430	T	0.62	-1.3798	4.4432	0.11584	0.1533:0.3425:0.4173:0.0869	.	869;557	Q8WYL5;Q8WYL5-4	SSH1_HUMAN;.	D	557;869	ENSP00000353374:G557D;ENSP00000315713:G869D	ENSP00000315713:G869D	G	-	2	0	SSH1	107706437	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.284000	0.08422	0.265000	0.21872	0.655000	0.94253	GGC		0.672	SSH1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000403724.1	NM_018984		6	8	0	0	0	1	0	6	8					T	109182308	C	T	109182308	3	4	435	1	0	0	0	0	1	0	0	0	15183	739	26	3	547	3	SSH1	12	109182308	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	208	109182308	24669587	5873	26798											
ACACB	32	broad.mit.edu	37	chr12	109625870	109625870	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gcagcaagaacgtgtggggtTacttcagcgtggccgctact	8	9	14	10	3	1	1	1	0	0	1	1	1	1	1	1	3	5	4	1	3	4	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:109625870T>C	ENST00000338432.7	+	13	2166	c.2047T>C	c.(2047-2049)Tac>Cac	p.Y683H	ACACB_ENST00000377854.5_Missense_Mutation_p.Y683H|ACACB_ENST00000377848.3_Missense_Mutation_p.Y683H			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	683	Biotin carboxylation.				acetyl-CoA metabolic process (GO:0006084)|biotin metabolic process (GO:0006768)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|malonyl-CoA biosynthetic process (GO:2001295)|positive regulation of cellular metabolic process (GO:0031325)|protein homotetramerization (GO:0051289)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	acetyl-CoA carboxylase activity (GO:0003989)|ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin carboxylase activity (GO:0004075)|metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Adenine(DB00173)|Biotin(DB00121)	CGTGTGGGGTTACTTCAGCGT	0.552																																						ENST00000338432.7																			0				NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95						c.(2047-2049)Tac>Cac		acetyl-CoA carboxylase beta	Biotin(DB00121)						124	118	120					12																	109625870		2203	4300	6503	SO:0001583	missense	32				acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	cytosol|endomembrane system|Golgi apparatus|membrane	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding	g.chr12:109625870T>C	U89344	CCDS31898.1	12q24.1	2010-05-07	2010-04-30		ENSG00000076555	ENSG00000076555	6.4.1.2		85	protein-coding gene	gene with protein product	"acetyl-CoA carboxylase 2"	601557	"acetyl-Coenzyme A carboxylase beta"			8670171	Standard	NM_001093		Approved	HACC275, ACC2, ACCB	uc001toc.3	O00763	OTTHUMG00000169250	ENST00000338432.7:c.2047T>C	12.37:g.109625870T>C	ENSP00000341044:p.Tyr683His					ACACB_ENST00000377848.3_Missense_Mutation_p.Y683H|ACACB_ENST00000377854.5_Missense_Mutation_p.Y683H	p.Y683H			O00763	ACACB_HUMAN			13	2166	+			683			Biotin carboxylation.		A6NK36|Q16852|Q1HEC1|Q6KE87|Q6KE89|Q6TY48	Missense_Mutation	SNP	ENST00000338432.7	37	c.2047T>C	CCDS31898.1	.	.	.	.	.	.	.	.	.	.	t	25.5	4.648388	0.87958	.	.	ENSG00000076555	ENST00000338432;ENST00000377848;ENST00000377854	T;T;T	0.81247	-1.47;-1.47;-1.47	5.27	5.27	0.74061	Rudiment single hybrid motif (1);ATP-grasp fold, subdomain 2 (1);Biotin carboxylation domain (1);Biotin carboxylase, C-terminal (2);	0.058087	0.64402	D	0.000001	D	0.84088	0.5395	M	0.75264	2.295	0.80722	D	1	B	0.30664	0.289	B	0.40477	0.33	D	0.85052	0.0929	10	0.87932	D	0	.	14.9629	0.71169	0.0:0.0:0.0:1.0	.	683	O00763	ACACB_HUMAN	H	683	ENSP00000341044:Y683H;ENSP00000367079:Y683H;ENSP00000367085:Y683H	ENSP00000341044:Y683H	Y	+	1	0	ACACB	108110253	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	7.969000	0.87988	2.030000	0.59900	0.434000	0.28630	TAC		0.552	ACACB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403077.1	NM_001093		21	34	0	0	0	1	0	21	34					C	109625870	T	C	109625870	3	2	435	1	0	0	0	0	1	0	0	0	107	1754	61	4	2093	4	ACACB	12	109625870	Missense_Mutation	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	443562	109625870	24226025	5874	26799											
FOXN4	121643	broad.mit.edu	37	chr12	109723126	109723126	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caccagggttggccatactcCggtggatggcagccaggtcc	7	7	14	13	1	0	0	0	0	0	0	2	1	2	1	5	6	2	2	5	6	1	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:109723126C>T	ENST00000299162.5	-	8	988	c.884G>A	c.(883-885)cGg>cAg	p.R295Q	FOXN4_ENST00000355216.1_Missense_Mutation_p.R115Q	NM_213596.2	NP_998761.2	Q96NZ1	FOXN4_HUMAN	forkhead box N4	295					amacrine cell differentiation (GO:0035881)|atrioventricular canal development (GO:0036302)|heart looping (GO:0001947)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of heart contraction (GO:0008016)|regulation of transcription, DNA-templated (GO:0006355)|retina layer formation (GO:0010842)|transcription, DNA-templated (GO:0006351)|ventral spinal cord interneuron fate commitment (GO:0060579)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|enhancer sequence-specific DNA binding (GO:0001158)|sequence-specific DNA binding transcription factor activity (GO:0003700)			large_intestine(5)|lung(9)|ovary(2)	16						GGCCATACTCCGGTGGATGGC	0.627																																						ENST00000299162.5																			0				large_intestine(5)|lung(9)|ovary(2)	16						c.(883-885)cGg>cAg		forkhead box N4							56	43	48					12																	109723126		2203	4300	6503	SO:0001583	missense	121643				axon extension|embryo development|organ development|pattern specification process|regulation of heart contraction|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chr12:109723126C>T	AF425596	CCDS9126.2	12q24.12	2008-02-05			ENSG00000139445	ENSG00000139445		"Forkhead boxes"	21399	protein-coding gene	gene with protein product		609429					Standard	NM_213596		Approved		uc001toe.4	Q96NZ1	OTTHUMG00000152868	ENST00000299162.5:c.884G>A	12.37:g.109723126C>T	ENSP00000299162:p.Arg295Gln					FOXN4_ENST00000355216.1_Missense_Mutation_p.R115Q	p.R295Q	NM_213596.2	NP_998761.2	Q96NZ1	FOXN4_HUMAN			8	988	-			295					Q6ZMR4|Q96NZ0	Missense_Mutation	SNP	ENST00000299162.5	37	c.884G>A	CCDS9126.2	.	.	.	.	.	.	.	.	.	.	C	28.7	4.944529	0.92593	.	.	ENSG00000139445	ENST00000355216;ENST00000299162	D;D	0.95342	-3.68;-3.31	4.63	4.63	0.57726	.	0.426528	0.26062	N	0.026566	D	0.96269	0.8783	M	0.66939	2.045	0.58432	D	0.999998	D;D	0.76494	0.999;0.976	D;P	0.64595	0.927;0.534	D	0.95503	0.8579	10	0.35671	T	0.21	-6.3013	16.8514	0.85995	0.0:1.0:0.0:0.0	.	295;295	A6H901;Q96NZ1	.;FOXN4_HUMAN	Q	115;295	ENSP00000347354:R115Q;ENSP00000299162:R295Q	ENSP00000299162:R295Q	R	-	2	0	FOXN4	108207509	1.000000	0.71417	0.995000	0.50966	0.879000	0.50718	6.016000	0.70798	2.290000	0.77057	0.561000	0.74099	CGG		0.627	FOXN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328306.1	XM_062735		3	10	0	0	0	1	0	3	10					T	109723126	C	T	109723126	3	4	435	1	0	0	0	0	1	0	0	0	6022	652	23	2	681	2	FOXN4	12	109723126	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	97256	109723126	24128769	5875	26800											
MYO1H	283446	broad.mit.edu	37	chr12	109876340	109876340	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccagcagtgaactctttcaGccatcaaactggaagcccac	12	7	8	14	0	3	1	2	1	1	0	3	2	3	2	3	1	5	1	3	1	3	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:109876340G>A	ENST00000431443.2	+	22	2191		c.e22-1		MYO1H_ENST00000310903.5_Splice_Site	NM_001101421.3	NP_001094891.3	Q8N1T3	MYO1H_HUMAN	myosin IH							myosin complex (GO:0016459)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(17)|prostate(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	47						AACTCTTTCAGCCATCAAACT	0.498																																						ENST00000310903.5																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(17)|prostate(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	47						c.e23-1		myosin IH							35	35	35					12																	109876340		1915	4129	6044	SO:0001630	splice_region_variant	283446					myosin complex	motor activity	g.chr12:109876340G>A		CCDS53826.1	12q24.11	2011-09-27			ENSG00000174527	ENSG00000174527		"Myosins / Myosin superfamily : Class I"	13879	protein-coding gene	gene with protein product		614636					Standard	NM_001101421		Approved	FLJ37587	uc010sxn.1	Q8N1T3	OTTHUMG00000169252	ENST00000431443.2:c.2192-1G>A	12.37:g.109876340G>A						MYO1H_ENST00000431443.2_Splice_Site				B4DNW6	B4DNW6_HUMAN			23	2267	+								F5H3C6	Splice_Site	SNP	ENST00000431443.2	37			.	.	.	.	.	.	.	.	.	.	G	23.4	4.415858	0.83449	.	.	ENSG00000174527	ENST00000310903;ENST00000431443	.	.	.	5.13	5.13	0.70059	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.092	0.81098	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	MYO1H	108360723	1.000000	0.71417	1.000000	0.80357	0.886000	0.51366	8.246000	0.89828	2.385000	0.81259	0.655000	0.94253	.		0.498	MYO1H-201	KNOWN	basic	protein_coding	protein_coding		NM_173597	Intron	3	8	0	0	0	1	0	3	8					A	109876340	G	A	109876340	5	1	435	1	0	0	0	0	0	0	1	0	10075	985	34	3	2247	3	MYO1H	12	109876340	Splice_Site	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	153214	109876340	23975555	5876	26801											
MVK	4598	broad.mit.edu	37	chr12	110034289	110034289	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgaccagctgtggctttgaCtgcttggaaaccagcatcgg	8	10	12	11	1	0	2	0	2	0	0	1	3	0	3	2	3	4	4	2	3	1	2	rs104895372		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:110034289C>T	ENST00000228510.3	+	11	1174	c.1098C>T	c.(1096-1098)gaC>gaT	p.D366D	MVK_ENST00000539696.1_Silent_p.D85D|MVK_ENST00000541384.1_Silent_p.D172D|MVK_ENST00000392727.3_Silent_p.D314D|MVK_ENST00000539575.1_Silent_p.D314D	NM_000431.2|NM_001114185.1	NP_000422.1|NP_001107657.1	Q03426	KIME_HUMAN	mevalonate kinase	366					cholesterol biosynthetic process (GO:0006695)|isopentenyl diphosphate biosynthetic process, mevalonate pathway (GO:0019287)|isoprenoid biosynthetic process (GO:0008299)|negative regulation of inflammatory response (GO:0050728)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|mevalonate kinase activity (GO:0004496)			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	8						GTGGCTTTGACTGCTTGGAAA	0.647																																						ENST00000228510.3																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	8						c.(1096-1098)gaC>gaT		mevalonate kinase							84	77	80					12																	110034289		2203	4300	6503	SO:0001819	synonymous_variant	4598				cholesterol biosynthetic process|isoprenoid biosynthetic process	cytosol|peroxisome	ATP binding|identical protein binding|mevalonate kinase activity	g.chr12:110034289C>T	M88468	CCDS9132.1, CCDS73522.1	12q24	2014-09-17	2008-01-30		ENSG00000110921	ENSG00000110921	2.7.1.36		7530	protein-coding gene	gene with protein product	"LH receptor mRNA-binding protein", "mevalonic aciduria"	251170	"mevalonate kinase (mevalonic aciduria)"			1377680	Standard	XM_005253883		Approved	LRBP, MK	uc001toy.4	Q03426	OTTHUMG00000169256	ENST00000228510.3:c.1098C>T	12.37:g.110034289C>T						MVK_ENST00000392727.3_Silent_p.D314D|MVK_ENST00000541384.1_Silent_p.D172D|MVK_ENST00000539575.1_Silent_p.D314D|MVK_ENST00000539696.1_Silent_p.D85D	p.D366D	NM_000431.2|NM_001114185.1	NP_000422.1|NP_001107657.1	Q03426	KIME_HUMAN			11	1174	+			366						Silent	SNP	ENST00000228510.3	37	c.1098C>T	CCDS9132.1																																																																																				0.647	MVK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403143.1	NM_000431		7	29	0	0	0	1	0	7	29					T	110034289	C	T	110034289	2	4	435	1	0	0	0	0	0	0	0	1	9995	564	20	3		3	MVK	12	110034289	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	157949	110034289	23817606	5877	26802											
GIT2	9815	broad.mit.edu	37	chr12	110429499	110429499	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggagatatggcgccctagaCtccgatggacactgcagcac	10	6	13	12	2	0	2	0	0	0	2	1	5	1	3	2	3	2	2	2	3	2	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:110429499C>T	ENST00000355312.3	-	2	118	c.119G>A	c.(118-120)aGt>aAt	p.S40N	GIT2_ENST00000551209.1_Missense_Mutation_p.S40N|GIT2_ENST00000320063.9_Missense_Mutation_p.S40N|GIT2_ENST00000356259.4_Missense_Mutation_p.S40N|GIT2_ENST00000343646.5_Missense_Mutation_p.S40N|GIT2_ENST00000361006.5_Missense_Mutation_p.S40N|GIT2_ENST00000553118.1_Missense_Mutation_p.S40N|GIT2_ENST00000360185.4_Missense_Mutation_p.S40N|GIT2_ENST00000547815.1_Missense_Mutation_p.S40N|GIT2_ENST00000457474.2_Missense_Mutation_p.S40N|GIT2_ENST00000354574.4_Missense_Mutation_p.S40N|GIT2_ENST00000338373.5_Missense_Mutation_p.S40N	NM_057169.3	NP_476510.1	Q14161	GIT2_HUMAN	G protein-coupled receptor kinase interacting ArfGAP 2	40	Arf-GAP. {ECO:0000255|PROSITE- ProRule:PRU00288}.				behavioral response to pain (GO:0048266)|regulation of ARF GTPase activity (GO:0032312)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	focal adhesion (GO:0005925)|nucleoplasm (GO:0005654)	ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(8)|skin(4)	27						GCGCCCTAGACTCCGATGGAC	0.483																																						ENST00000360185.4																			0				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(8)|skin(4)	27						c.(118-120)aGt>aAt		G protein-coupled receptor kinase interacting ArfGAP 2							148	125	133					12																	110429499		2203	4300	6503	SO:0001583	missense	9815				regulation of ARF GTPase activity|regulation of G-protein coupled receptor protein signaling pathway	nucleoplasm	ARF GTPase activator activity|protein binding|zinc ion binding	g.chr12:110429499C>T	AF124491	CCDS9138.1, CCDS9139.1, CCDS44968.1, CCDS44969.1, CCDS55884.1	12q24.1	2013-01-10	2008-09-05			ENSG00000139436		"ADP-ribosylation factor GTPase activating proteins", "Ankyrin repeat domain containing"	4273	protein-coding gene	gene with protein product		608564	"G protein-coupled receptor kinase interactor 2"			9826657, 10896954	Standard	NM_139201		Approved	KIAA0148	uc001tps.2	Q14161	OTTHUMG00000169313	ENST00000355312.3:c.119G>A	12.37:g.110429499C>T	ENSP00000347464:p.Ser40Asn					GIT2_ENST00000551209.1_Missense_Mutation_p.S40N|GIT2_ENST00000320063.9_Missense_Mutation_p.S40N|GIT2_ENST00000361006.5_Missense_Mutation_p.S40N|GIT2_ENST00000457474.2_Missense_Mutation_p.S40N|GIT2_ENST00000553118.1_Missense_Mutation_p.S40N|GIT2_ENST00000338373.5_Missense_Mutation_p.S40N|GIT2_ENST00000355312.3_Missense_Mutation_p.S40N|GIT2_ENST00000354574.4_Missense_Mutation_p.S40N|GIT2_ENST00000343646.5_Missense_Mutation_p.S40N|GIT2_ENST00000547815.1_Missense_Mutation_p.S40N|GIT2_ENST00000356259.4_Missense_Mutation_p.S40N	p.S40N			Q14161	GIT2_HUMAN			2	283	-			40			Arf-GAP.		Q86U59|Q96CI2|Q9BV91|Q9Y5V2	Missense_Mutation	SNP	ENST00000355312.3	37	c.119G>A	CCDS9138.1	.	.	.	.	.	.	.	.	.	.	C	19.88	3.909912	0.72983	.	.	ENSG00000139436	ENST00000355312;ENST00000360185;ENST00000354574;ENST00000338373;ENST00000343646;ENST00000356259;ENST00000457474;ENST00000361006;ENST00000553118;ENST00000551209;ENST00000547815;ENST00000320063	T;T;T;T;T;T;T;T;T;T;T;T	0.42900	0.96;0.96;0.96;0.96;0.96;0.96;0.96;0.96;0.96;0.96;0.96;0.96	5.22	5.22	0.72569	.	0.000000	0.85682	D	0.000000	T	0.32823	0.0842	L	0.31752	0.955	0.80722	D	1	B;B;B;B;B;B;B	0.22851	0.003;0.005;0.023;0.023;0.076;0.014;0.053	B;B;B;B;B;B;B	0.25140	0.032;0.032;0.034;0.034;0.053;0.058;0.047	T	0.10941	-1.0608	10	0.11182	T	0.66	.	17.7647	0.88475	0.0:1.0:0.0:0.0	.	40;40;40;40;40;40;40	B4E2E7;Q6FI58;Q14161-10;F8WAK2;Q14161-11;Q14161;Q14161-5	.;.;.;.;.;GIT2_HUMAN;.	N	40	ENSP00000347464:S40N;ENSP00000353312:S40N;ENSP00000346585:S40N;ENSP00000340342:S40N;ENSP00000340938:S40N;ENSP00000348595:S40N;ENSP00000391813:S40N;ENSP00000354282:S40N;ENSP00000447465:S40N;ENSP00000448832:S40N;ENSP00000450348:S40N;ENSP00000323833:S40N	ENSP00000323833:S40N	S	-	2	0	GIT2	108913882	1.000000	0.71417	0.997000	0.53966	0.999000	0.98932	7.818000	0.86416	2.444000	0.82710	0.655000	0.94253	AGT		0.483	GIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403407.1	NM_057169		23	40	0	0	0	1	0	23	40					T	110429499	C	T	110429499	3	4	435	1	0	0	0	0	1	0	0	0	6397	565	20	3	2274	3	GIT2	12	110429499	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	395210	110429499	23422396	5878	26803											
ANAPC7	51434	broad.mit.edu	37	chr12	110815420	110815420	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggctaagtaacattcgataaGacctgaaaaaagtaaaacac	20	7	7	7	1	0	2	0	1	0	1	1	3	0	2	1	1	2	3	1	1	8	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:110815420G>A	ENST00000455511.3	-	9	1237	c.1237C>T	c.(1237-1239)Ctt>Ttt	p.L413F	ANAPC7_ENST00000481473.1_5'UTR|ANAPC7_ENST00000450008.2_Missense_Mutation_p.L413F	NM_016238.2	NP_057322.2	Q9UJX3	APC7_HUMAN	anaphase promoting complex subunit 7	413					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein phosphatase binding (GO:0019903)			breast(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)	19						CATTCGATAAGACCTGAAAAA	0.413																																						ENST00000455511.3																			0				breast(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)	19						c.(1237-1239)Ctt>Ttt		anaphase promoting complex subunit 7							127	109	115					12																	110815420		2203	4300	6503	SO:0001583	missense	51434				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm	protein phosphatase binding	g.chr12:110815420G>A	AF191340	CCDS9145.2, CCDS44971.1	12q13.12	2013-01-10			ENSG00000196510	ENSG00000196510		"Anaphase promoting complex subunits", "Tetratricopeptide (TTC) repeat domain containing"	17380	protein-coding gene	gene with protein product		606949					Standard	NM_016238		Approved	APC7	uc001tqo.2	Q9UJX3	OTTHUMG00000157009	ENST00000455511.3:c.1237C>T	12.37:g.110815420G>A	ENSP00000394394:p.Leu413Phe					ANAPC7_ENST00000450008.2_Missense_Mutation_p.L413F|ANAPC7_ENST00000481473.1_5'UTR	p.L413F	NM_016238.2	NP_057322.2	Q9UJX3	APC7_HUMAN			9	1237	-			413					Q96AC4|Q96GF4|Q9BU24|Q9NT16	Missense_Mutation	SNP	ENST00000455511.3	37	c.1237C>T	CCDS9145.2	.	.	.	.	.	.	.	.	.	.	G	33	5.219371	0.95139	.	.	ENSG00000196510	ENST00000455511;ENST00000486321;ENST00000450008;ENST00000471602;ENST00000548234	D;T	0.82526	-1.62;0.29	6.03	6.03	0.97812	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.85682	D	0.000000	D	0.90542	0.7036	M	0.62723	1.935	0.80722	D	1	D;D	0.89917	0.997;1.0	D;D	0.78314	0.991;0.982	D	0.89643	0.3864	10	0.56958	D	0.05	-21.4794	20.5568	0.99304	0.0:0.0:1.0:0.0	.	413;413	Q9UJX3-2;Q9UJX3	.;APC7_HUMAN	F	413;11;413;106;115	ENSP00000394394:L413F;ENSP00000402314:L413F	ENSP00000402314:L413F	L	-	1	0	ANAPC7	109299803	1.000000	0.71417	1.000000	0.80357	0.930000	0.56654	6.307000	0.72815	2.861000	0.98227	0.655000	0.94253	CTT		0.413	ANAPC7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000347075.3	NM_016238		26	30	0	0	0	1	0	26	30					A	110815420	G	A	110815420	3	1	435	1	0	0	0	0	1	0	0	0	606	942	33	3	578	3	ANAPC7	12	110815420	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	385921	110815420	23036475	5879	26804											
RAD9B	144715	broad.mit.edu	37	chr12	110960163	110960163	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagatgtcagtgaagtatcaGaaagcagtgtcagcaacaca	16	7	11	7	0	3	3	3	1	0	2	3	4	3	3	0	0	3	3	0	0	4	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:110960163G>T	ENST00000409778.3	+	8	889	c.865G>T	c.(865-867)Gaa>Taa	p.E289*	RAD9B_ENST00000392672.4_Nonsense_Mutation_p.E358*|RAD9B_ENST00000409425.1_Nonsense_Mutation_p.E286*|RAD9B_ENST00000409300.1_Nonsense_Mutation_p.E358*|RAD9B_ENST00000409246.1_Nonsense_Mutation_p.E286*			Q6WBX8	RAD9B_HUMAN	RAD9 homolog B (S. pombe)	355					DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|DNA replication (GO:0006260)	checkpoint clamp complex (GO:0030896)|nucleoplasm (GO:0005654)				endometrium(1)|large_intestine(2)|lung(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	7						TGAAGTATCAGAAAGCAGTGT	0.438																																						ENST00000409246.1																			0				endometrium(1)|large_intestine(2)|lung(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	7						c.(856-858)Gaa>Taa		RAD9 homolog B (S. pombe)							82	64	70					12																	110960163		2203	4300	6503	SO:0001587	stop_gained	144715				cell cycle checkpoint|DNA repair|DNA replication	nucleoplasm	protein binding	g.chr12:110960163G>T		CCDS9148.2, CCDS66469.1, CCDS73526.1, CCDS73527.1	12q24.13	2008-12-15	2008-12-15		ENSG00000151164	ENSG00000151164			21700	protein-coding gene	gene with protein product		608368					Standard	NM_152442		Approved	FLJ40346	uc001trf.4	Q6WBX8	OTTHUMG00000152952	ENST00000409778.3:c.865G>T	12.37:g.110960163G>T	ENSP00000386697:p.Glu289*					RAD9B_ENST00000409425.1_Nonsense_Mutation_p.E286*|RAD9B_ENST00000409778.3_Nonsense_Mutation_p.E289*|RAD9B_ENST00000392672.4_Nonsense_Mutation_p.E358*|RAD9B_ENST00000409300.1_Nonsense_Mutation_p.E358*	p.E286*			Q6WBX8	RAD9B_HUMAN			10	1181	+			355					Q5U5K0|Q6NVJ1|Q6ZVT7|Q8N7T9|Q96LI8	Nonsense_Mutation	SNP	ENST00000409778.3	37	c.856G>T		.	.	.	.	.	.	.	.	.	.	G	17.44	3.390006	0.61956	.	.	ENSG00000151164	ENST00000409246;ENST00000392672;ENST00000409300;ENST00000409425;ENST00000409778	.	.	.	4.98	2.1	0.27182	.	0.355775	0.23955	N	0.042908	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-4.6106	5.4094	0.16341	0.1843:0.1651:0.6506:0.0	.	.	.	.	X	286;358;358;286;289	.	ENSP00000376440:E358X	E	+	1	0	RAD9B	109444546	0.034000	0.19679	0.000000	0.03702	0.197000	0.23852	2.695000	0.47043	0.216000	0.20781	0.561000	0.74099	GAA		0.438	RAD9B-009	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000404634.1	NM_152442		7	7	1	0	0.000274275	1	0.000279654	7	7					T	110960163	G	T	110960163	4	4	435	1	0	0	0	0	0	1	0	0	12996	943	33	5	1110	5	RAD9B	12	110960163	Nonsense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	144743	110960163	22891732	5880	26805											
CUX2	23316	broad.mit.edu	37	chr12	111786040	111786040	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaaccccaacttgcagcggCggcatgagaagatggccaat	12	6	12	11	2	0	3	0	2	0	2	0	4	0	3	3	3	4	2	3	3	4	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:111786040C>T	ENST00000261726.6	+	22	4526	c.4372C>T	c.(4372-4374)Cgg>Tgg	p.R1458W		NM_015267.3	NP_056082.2	O14529	CUX2_HUMAN	cut-like homeobox 2	1458					cellular response to organic substance (GO:0071310)|cognition (GO:0050890)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of gene expression (GO:0010628)|positive regulation of synapse assembly (GO:0051965)|short-term memory (GO:0007614)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding (GO:0043565)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						CTTGCAGCGGCGGCATGAGAA	0.617																																						ENST00000261726.6																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						c.(4372-4374)Cgg>Tgg		cut-like homeobox 2							87	95	92					12																	111786040		2000	4158	6158	SO:0001583	missense	23316					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr12:111786040C>T	AB006631	CCDS41837.1	12q24.12	2011-06-20	2007-11-07	2007-11-07	ENSG00000111249	ENSG00000111249		"Homeoboxes / CUT class"	19347	protein-coding gene	gene with protein product		610648	"cut-like 2 (Drosophila)"	CUTL2			Standard	NM_015267		Approved	KIAA0293, CDP2	uc001tsa.2	O14529	OTTHUMG00000169546	ENST00000261726.6:c.4372C>T	12.37:g.111786040C>T	ENSP00000261726:p.Arg1458Trp						p.R1458W	NM_015267.3	NP_056082.2	O14529	CUX2_HUMAN			22	4526	+			1458					A7E2Y4	Missense_Mutation	SNP	ENST00000261726.6	37	c.4372C>T	CCDS41837.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.293792	0.80914	.	.	ENSG00000111249	ENST00000261726	T	0.72394	-0.65	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	D	0.82737	0.5102	M	0.71581	2.175	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.84286	0.0497	10	0.87932	D	0	-31.9504	14.0852	0.64951	0.1506:0.8494:0.0:0.0	.	1458	O14529	CUX2_HUMAN	W	1458	ENSP00000261726:R1458W	ENSP00000261726:R1458W	R	+	1	2	CUX2	110270423	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	2.055000	0.41345	2.624000	0.88883	0.655000	0.94253	CGG		0.617	CUX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404765.1	NM_015267		38	46	0	0	0	1	0	38	46					T	111786040	C	T	111786040	3	4	435	1	0	0	0	0	1	0	0	0	4065	759	27	1	4458	1	CUX2	12	111786040	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	825877	111786040	22065855	5881	26806											
FAM109A	144717	broad.mit.edu	37	chr12	111801181	111801181	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aggaagcctgcattgtccacCggggcgtcacaggtggcgta	8	7	15	11	3	1	0	1	0	0	0	2	1	2	1	3	5	2	2	3	5	2	2	rs574399710		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:111801181C>T	ENST00000547838.2	-	2	148	c.51G>A	c.(49-51)ccG>ccA	p.P17P	FAM109A_ENST00000361483.3_Silent_p.P30P|FAM109A_ENST00000450786.2_5'UTR|FAM109A_ENST00000548163.1_Silent_p.P17P|FAM109A_ENST00000392658.5_Silent_p.P17P			Q8N4B1	SESQ1_HUMAN	family with sequence similarity 109, member A	17	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				endosome organization (GO:0007032)|receptor recycling (GO:0001881)|retrograde transport, endosome to Golgi (GO:0042147)	clathrin-coated vesicle (GO:0030136)|early endosome (GO:0005769)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802)	protein homodimerization activity (GO:0042803)			breast(1)|endometrium(1)|lung(1)|ovary(1)	4						CATTGTCCACCGGGGCGTCAC	0.657													C|||	1	0.000199681	0	0	5008	,	,		16251	0.001		0	False		,,,				2504	0					ENST00000361483.3																			0				breast(1)|endometrium(1)|lung(1)|ovary(1)	4						c.(88-90)ccG>ccA		family with sequence similarity 109, member A							20	22	22					12																	111801181		2201	4294	6495	SO:0001819	synonymous_variant	144717				endosome organization|receptor recycling|retrograde transport, endosome to Golgi	clathrin-coated vesicle|early endosome|recycling endosome|trans-Golgi network	protein homodimerization activity	g.chr12:111801181C>T	BC034809	CCDS9152.1, CCDS53833.1	12q24.12	2013-01-10			ENSG00000198324	ENSG00000198324		"Pleckstrin homology (PH) domain containing"	26509	protein-coding gene	gene with protein product		614239				12477932	Standard	NM_144671		Approved	FLJ32356	uc009zvu.3	Q8N4B1	OTTHUMG00000169547	ENST00000547838.2:c.51G>A	12.37:g.111801181C>T						FAM109A_ENST00000548163.1_Silent_p.P17P|FAM109A_ENST00000392658.5_Silent_p.P17P|FAM109A_ENST00000450786.2_5'UTR|FAM109A_ENST00000547838.2_Silent_p.P17P	p.P30P	NM_001177996.1	NP_001171467.1	Q8N4B1	SESQ1_HUMAN			4	529	-			17			PH.		J3KP50|Q6PJL9|Q96MH8	Silent	SNP	ENST00000547838.2	37	c.90G>A	CCDS9152.1																																																																																				0.657	FAM109A-007	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404768.2	NM_144671		8	7	0	0	0	1	0	8	7					T	111801181	C	T	111801181	2	4	435	1	0	0	0	0	0	0	0	1	5394	639	23	2		2	FAM109A	12	111801181	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	15141	111801181	22050714	5882	26807											
SH2B3	10019	broad.mit.edu	37	chr12	111885287	111885287	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcatggagtgttcctggtgcGgcagagcgagacgcggcgtg	6	8	18	9	5	1	2	1	0	0	2	2	4	2	3	1	4	2	2	1	4	0	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:111885287G>A	ENST00000341259.2	+	6	1532	c.1175G>A	c.(1174-1176)cGg>cAg	p.R392Q	SH2B3_ENST00000538307.1_Missense_Mutation_p.R190Q	NM_005475.2	NP_005466.1	Q9UQQ2	SH2B3_HUMAN	SH2B adaptor protein 3	392	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|embryonic hemopoiesis (GO:0035162)|intracellular signal transduction (GO:0035556)	cytosol (GO:0005829)	phosphate ion binding (GO:0042301)|signal transducer activity (GO:0004871)			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	10					Pazopanib(DB06589)	TTCCTGGTGCGGCAGAGCGAG	0.627																																						ENST00000341259.2																			0				central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	10						c.(1174-1176)cGg>cAg		SH2B adaptor protein 3							64	69	67					12																	111885287		2203	4300	6503	SO:0001583	missense	10019				blood coagulation	cytosol	signal transducer activity	g.chr12:111885287G>A	AF055581	CCDS9153.1	12q24.12	2014-09-17				ENSG00000111252		"Pleckstrin homology (PH) domain containing", "SH2 domain containing"	29605	protein-coding gene	gene with protein product	"lymphocyte adaptor protein"	605093				10799879	Standard	NM_005475		Approved	LNK, IDDM20	uc001tse.3	Q9UQQ2		ENST00000341259.2:c.1175G>A	12.37:g.111885287G>A	ENSP00000345492:p.Arg392Gln					SH2B3_ENST00000538307.1_Missense_Mutation_p.R190Q	p.R392Q	NM_005475.2	NP_005466.1	Q9UQQ2	SH2B3_HUMAN			6	1532	+			392			SH2.		B9EGG5|O95184	Missense_Mutation	SNP	ENST00000341259.2	37	c.1175G>A	CCDS9153.1	.	.	.	.	.	.	.	.	.	.	G	36	5.692444	0.96793	.	.	ENSG00000111252	ENST00000341259;ENST00000551001;ENST00000538307	D;D	0.99287	-5.69;-5.69	5.0	5.0	0.66597	SH2 motif (5);	0.000000	0.85682	D	0.000000	D	0.99691	0.9883	H	0.98199	4.17	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.97247	0.9895	10	0.87932	D	0	-17.5977	18.6561	0.91455	0.0:0.0:1.0:0.0	.	190;256;392	F5GYM4;Q59H48;Q9UQQ2	.;.;SH2B3_HUMAN	Q	392;202;190	ENSP00000345492:R392Q;ENSP00000440597:R190Q	ENSP00000345492:R392Q	R	+	2	0	SH2B3	110369670	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.393000	0.97256	2.482000	0.83794	0.462000	0.41574	CGG		0.627	SH2B3-001	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000404779.1	NM_005475		10	50	0	0	0	1	0	10	50					A	111885287	G	A	111885287	3	1	435	1	0	0	0	0	1	0	0	0	14229	1116	39	2	1193	2	SH2B3	12	111885287	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	84106	111885287	21966608	5883	26808											
ATXN2	6311	broad.mit.edu	37	chr12	111923111	111923111	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggcttgattcactggcatggGcgtcataggtattgggtata	8	13	14	6	1	2	1	2	1	0	0	2	1	2	1	0	5	0	4	0	5	4	7			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:111923111G>A	ENST00000377617.3	-	18	3123	c.2962C>T	c.(2962-2964)Ccc>Tcc	p.P988S	ATXN2_ENST00000389153.4_Missense_Mutation_p.P723S|ATXN2_ENST00000542287.2_Missense_Mutation_p.P723S|ATXN2_ENST00000550104.1_Intron|AC002395.1_ENST00000581907.1_RNA|ATXN2_ENST00000535949.1_Missense_Mutation_p.P699S|ATXN2_ENST00000608853.1_Missense_Mutation_p.P828S	NM_002973.3	NP_002964.3	Q99700	ATX2_HUMAN	ataxin 2	988	Pro-rich.				cell death (GO:0008219)|cerebellar Purkinje cell differentiation (GO:0021702)|cytoplasmic mRNA processing body assembly (GO:0033962)|homeostasis of number of cells (GO:0048872)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of receptor internalization (GO:0002091)|neuromuscular process (GO:0050905)|neuron projection morphogenesis (GO:0048812)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA transport (GO:0050658)|stress granule assembly (GO:0034063)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|polysome (GO:0005844)|ribonucleoprotein complex (GO:0030529)|trans-Golgi network (GO:0005802)	epidermal growth factor receptor binding (GO:0005154)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)|RNA binding (GO:0003723)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	37						ACTGGCATGGGCGTCATAGGT	0.368																																						ENST00000377617.3																			0				NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	37						c.(2962-2964)Ccc>Tcc		ataxin 2							207	194	198					12																	111923111		2203	4300	6503	SO:0001583	missense	6311				cell death|cytoplasmic mRNA processing body assembly|regulation of translation|RNA metabolic process|RNA transport|stress granule assembly	nucleus|perinuclear region of cytoplasm|polysome|stress granule|trans-Golgi network	protein C-terminus binding|RNA binding	g.chr12:111923111G>A	U80749	CCDS31902.1	12q23-q24.1	2014-09-17	2004-08-12	2004-08-13	ENSG00000204842	ENSG00000204842		"Ataxins"	10555	protein-coding gene	gene with protein product	"trinucleotide repeat containing 13"	601517	"spinocerebellar ataxia 2 (olivopontocerebellar ataxia 2, autosomal dominant, ataxin 2)"	SCA2, TNRC13		8358438, 9225980	Standard	NM_002973		Approved	ATX2	uc001tsj.3	Q99700	OTTHUMG00000133475	ENST00000377617.3:c.2962C>T	12.37:g.111923111G>A	ENSP00000366843:p.Pro988Ser					ATXN2_ENST00000389153.4_Missense_Mutation_p.P723S|ATXN2_ENST00000550104.1_Intron|ATXN2_ENST00000542287.2_Missense_Mutation_p.P723S|ATXN2_ENST00000535949.1_Missense_Mutation_p.P699S	p.P988S	NM_002973.3	NP_002964.3	Q99700	ATX2_HUMAN			18	3123	-			988			Pro-rich.		A6NLD4|Q6ZQZ7|Q99493	Missense_Mutation	SNP	ENST00000377617.3	37	c.2962C>T	CCDS31902.1	.	.	.	.	.	.	.	.	.	.	G	6.302	0.423894	0.11928	.	.	ENSG00000204842	ENST00000389154;ENST00000389153;ENST00000377617;ENST00000542287;ENST00000535949	T	0.61392	0.11	5.78	5.78	0.91487	.	0.051673	0.85682	D	0.000000	T	0.34803	0.0910	N	0.03608	-0.345	0.80722	D	1	P;B;P;B	0.48407	0.91;0.131;0.459;0.4	B;B;B;B	0.42462	0.388;0.027;0.173;0.085	T	0.28459	-1.0043	10	0.15499	T	0.54	-9.8878	14.7965	0.69881	0.0:0.0:0.8558:0.1442	.	988;699;723;723	Q99700;Q24JQ7;F8VQP2;F8WB06	ATX2_HUMAN;.;.;.	S	41;723;988;723;699	ENSP00000366843:P988S	ENSP00000366843:P988S	P	-	1	0	ATXN2	110407494	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.763000	0.68818	2.738000	0.93877	0.591000	0.81541	CCC		0.368	ATXN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257351.3	NM_002973		16	140	0	0	0	1	0	16	140					A	111923111	G	A	111923111	3	1	435	1	0	0	0	0	1	0	0	0	1211	1203	42	3	1011	3	ATXN2	12	111923111	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	37824	111923111	21928784	5884	26809											
ACAD10	80724	broad.mit.edu	37	chr12	112182470	112182470	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	aagcaagctccacatatgcgGaacaaactggaaagctgacc	16	5	9	11	1	0	1	0	1	0	0	1	3	1	3	2	2	6	3	2	2	6	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:112182470G>A	ENST00000313698.4	+	13	1893	c.1738G>A	c.(1738-1740)Gaa>Aaa	p.E580K	ACAD10_ENST00000392636.2_Missense_Mutation_p.E182K|ACAD10_ENST00000413681.3_3'UTR|ACAD10_ENST00000455480.2_Missense_Mutation_p.E611K|ACAD10_ENST00000549590.1_Missense_Mutation_p.E580K	NM_025247.5	NP_079523.3	Q6JQN1	ACD10_HUMAN	acyl-CoA dehydrogenase family, member 10	580						mitochondrion (GO:0005739)	acyl-CoA dehydrogenase activity (GO:0003995)|flavin adenine dinucleotide binding (GO:0050660)|hydrolase activity (GO:0016787)|transferase activity, transferring phosphorus-containing groups (GO:0016772)			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(17)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(5)	47						CACATATGCGGAACAAACTGG	0.463																																						ENST00000455480.2																			0				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(17)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(5)	47						c.(1831-1833)Gaa>Aaa		acyl-CoA dehydrogenase family, member 10							96	97	97					12																	112182470		2203	4300	6503	SO:0001583	missense	80724						acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|hydrolase activity|transferase activity, transferring phosphorus-containing groups	g.chr12:112182470G>A	AY323912	CCDS31903.1, CCDS44973.1	12q24.12	2012-10-02	2010-04-30		ENSG00000111271	ENSG00000111271			21597	protein-coding gene	gene with protein product		611181	"acyl-Coenzyme A dehydrogenase family, member 10"			15560374	Standard	NM_025247		Approved	MGC5601	uc009zvx.3	Q6JQN1	OTTHUMG00000169602	ENST00000313698.4:c.1738G>A	12.37:g.112182470G>A	ENSP00000325137:p.Glu580Lys					ACAD10_ENST00000313698.4_Missense_Mutation_p.E580K|ACAD10_ENST00000549590.1_Missense_Mutation_p.E580K|ACAD10_ENST00000392636.2_Missense_Mutation_p.E182K|ACAD10_ENST00000413681.3_3'UTR	p.E611K	NM_001136538.1	NP_001130010.1	Q6JQN1	ACD10_HUMAN			14	2008	+			580					G3XAJ0|Q8N828|Q8NAP2|Q96BX5	Missense_Mutation	SNP	ENST00000313698.4	37	c.1831G>A	CCDS31903.1	.	.	.	.	.	.	.	.	.	.	G	5.001	0.185898	0.09495	.	.	ENSG00000111271	ENST00000392636;ENST00000413681;ENST00000549590;ENST00000455480;ENST00000313698;ENST00000507683	T;T;T;T	0.29397	1.57;1.57;1.57;1.57	5.74	2.86	0.33363	.	0.719570	0.13128	N	0.411700	T	0.12518	0.0304	N	0.12422	0.21	0.09310	N	1	B;B;B	0.06786	0.0;0.0;0.001	B;B;B	0.09377	0.002;0.002;0.004	T	0.36114	-0.9761	10	0.06494	T	0.89	.	3.61	0.08057	0.147:0.1325:0.5836:0.1368	.	611;580;580	G3XAJ0;Q6JQN1;Q6JQN1-2	.;ACD10_HUMAN;.	K	182;580;580;611;580;161	ENSP00000376411:E182K;ENSP00000446959:E580K;ENSP00000389813:E611K;ENSP00000325137:E580K	ENSP00000325137:E580K	E	+	1	0	ACAD10	110666853	0.009000	0.17119	0.004000	0.12327	0.183000	0.23260	0.850000	0.27737	0.328000	0.23435	0.655000	0.94253	GAA		0.463	ACAD10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368307.1	NM_025247		31	53	0	0	0	1	0	31	53					A	112182470	G	A	112182470	3	1	435	1	0	0	0	0	1	0	0	0	108	1175	41	3	1881	3	ACAD10	12	112182470	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	259359	112182470	21669425	5885	26810											
ACAD10	80724	broad.mit.edu	37	chr12	112191640	112191640	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacagtgctggcggacatcgCgcagtcgcgcgtggagattg	7	7	16	11	6	0	1	0	0	0	1	2	3	0	2	0	3	1	2	0	3	0	1	rs146750873		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:112191640C>T	ENST00000313698.4	+	19	3037	c.2882C>T	c.(2881-2883)gCg>gTg	p.A961V	ACAD10_ENST00000455480.2_Missense_Mutation_p.A992V|RP11-162P23.2_ENST00000546840.2_5'Flank	NM_025247.5	NP_079523.3	Q6JQN1	ACD10_HUMAN	acyl-CoA dehydrogenase family, member 10	961						mitochondrion (GO:0005739)	acyl-CoA dehydrogenase activity (GO:0003995)|flavin adenine dinucleotide binding (GO:0050660)|hydrolase activity (GO:0016787)|transferase activity, transferring phosphorus-containing groups (GO:0016772)	p.A961V(1)		NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(17)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(5)	47						GCGGACATCGCGCAGTCGCGC	0.642											OREG0022130	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000455480.2																			1	Substitution - Missense(1)	p.A961V(1)	lung(1)	NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(17)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(5)	47						c.(2974-2976)gCg>gTg		acyl-CoA dehydrogenase family, member 10		C	VAL/ALA,VAL/ALA	0,4406		0,0,2203	55	47	50		2975,2882	4	0.4	12	dbSNP_134	50	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	ACAD10	NM_001136538.1,NM_025247.5	64,64	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging	992/1091,961/1060	112191640	1,13005	2203	4300	6503	SO:0001583	missense	80724						acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|hydrolase activity|transferase activity, transferring phosphorus-containing groups	g.chr12:112191640C>T	AY323912	CCDS31903.1, CCDS44973.1	12q24.12	2012-10-02	2010-04-30		ENSG00000111271	ENSG00000111271			21597	protein-coding gene	gene with protein product		611181	"acyl-Coenzyme A dehydrogenase family, member 10"			15560374	Standard	NM_025247		Approved	MGC5601	uc009zvx.3	Q6JQN1	OTTHUMG00000169602	ENST00000313698.4:c.2882C>T	12.37:g.112191640C>T	ENSP00000325137:p.Ala961Val		OREG0022130	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1440	ACAD10_ENST00000313698.4_Missense_Mutation_p.A961V	p.A992V	NM_001136538.1	NP_001130010.1	Q6JQN1	ACD10_HUMAN			20	3152	+			961					G3XAJ0|Q8N828|Q8NAP2|Q96BX5	Missense_Mutation	SNP	ENST00000313698.4	37	c.2975C>T	CCDS31903.1	.	.	.	.	.	.	.	.	.	.	C	14.99	2.700819	0.48307	0.0	1.16E-4	ENSG00000111271	ENST00000455480;ENST00000313698;ENST00000512792	D;D	0.97731	-4.51;-4.51	4.89	4.0	0.46444	Acyl-CoA dehydrogenase/oxidase C-terminal (2);Acyl-CoA oxidase/dehydrogenase, type 1 (1);	0.286888	0.31624	N	0.007325	D	0.98704	0.9565	H	0.94183	3.505	0.80722	D	1	P;D	0.76494	0.929;0.999	B;P	0.58331	0.214;0.837	D	0.99143	1.0856	10	0.72032	D	0.01	.	12.4874	0.55881	0.0:0.9173:0.0:0.0827	.	992;961	G3XAJ0;Q6JQN1	.;ACD10_HUMAN	V	992;961;116	ENSP00000389813:A992V;ENSP00000325137:A961V	ENSP00000325137:A961V	A	+	2	0	ACAD10	110676023	0.055000	0.20627	0.361000	0.25849	0.007000	0.05969	2.530000	0.45641	1.309000	0.44985	-0.671000	0.03813	GCG		0.642	ACAD10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368307.1	NM_025247		14	23	0	0	0	1	0	14	23					T	112191640	C	T	112191640	3	4	435	1	0	0	0	0	1	0	0	0	108	768	27	1	3049	1	ACAD10	12	112191640	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	9170	112191640	21660255	5886	26811											
TMEM116	89894	broad.mit.edu	37	chr12	112371728	112371728	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agaaggccactgggtagaagCgcacccgttggtccacaatg	11	6	13	11	2	0	2	0	0	0	2	1	2	1	2	3	3	1	3	3	3	4	2	rs566186086	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:112371728C>T	ENST00000550831.3	-	8	787	c.419G>A	c.(418-420)cGc>cAc	p.R140H	TMEM116_ENST00000355445.3_Missense_Mutation_p.R197H|TMEM116_ENST00000549537.2_Missense_Mutation_p.R46H|TMEM116_ENST00000354825.3_Missense_Mutation_p.R140H|TMEM116_ENST00000552374.2_Missense_Mutation_p.R232H|TMEM116_ENST00000437003.2_Missense_Mutation_p.R140H	NM_138341.2	NP_612350.1	Q8NCL8	TM116_HUMAN	transmembrane protein 116	140						integral component of membrane (GO:0016021)		p.R140P(1)		endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|skin(1)	8						TGGGTAGAAGCGCACCCGTTG	0.498													C|||	5	0.000998403	0	0	5008	,	,		16786	0		0	False		,,,				2504	0.0051					ENST00000354825.3																			1	Substitution - Missense(1)	p.R140P(1)	ovary(1)	endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|skin(1)	8						c.(418-420)cGc>cAc		transmembrane protein 116							122	114	117					12																	112371728		2203	4300	6503	SO:0001583	missense	89894					integral to membrane		g.chr12:112371728C>T	AK074648	CCDS9157.1, CCDS55886.1, CCDS55887.1	12q24.13	2012-03-02			ENSG00000198270	ENSG00000198270			25084	protein-coding gene	gene with protein product						12477932	Standard	NM_001193453		Approved	FLJ90167	uc001ttd.2	Q8NCL8	OTTHUMG00000169606	ENST00000550831.3:c.419G>A	12.37:g.112371728C>T	ENSP00000450377:p.Arg140His					TMEM116_ENST00000550831.3_Missense_Mutation_p.R140H|TMEM116_ENST00000552374.2_Missense_Mutation_p.R232H|TMEM116_ENST00000549537.2_Missense_Mutation_p.R46H|TMEM116_ENST00000437003.2_Missense_Mutation_p.R140H|TMEM116_ENST00000355445.3_Missense_Mutation_p.R197H	p.R140H			Q8NCL8	TM116_HUMAN			11	1074	-			140					G3V1W7|G5E985|Q6NSH5|Q8IZ66	Missense_Mutation	SNP	ENST00000550831.3	37	c.419G>A	CCDS9157.1	.	.	.	.	.	.	.	.	.	.	c	1.692	-0.503802	0.04261	.	.	ENSG00000198270	ENST00000355445;ENST00000354825;ENST00000550831;ENST00000437003;ENST00000549537;ENST00000552374	T;T;T;T;T	0.47869	0.86;0.84;0.84;0.84;0.83	4.7	2.79	0.32731	.	0.888263	0.09726	N	0.763822	T	0.34774	0.0909	L	0.47716	1.5	0.09310	N	1	B;B;B;B	0.16396	0.017;0.013;0.008;0.013	B;B;B;B	0.10450	0.004;0.005;0.005;0.005	T	0.31724	-0.9933	10	0.15066	T	0.55	0.0661	3.2808	0.06915	0.3152:0.4681:0.0:0.2167	.	46;197;232;140	G3V1Z3;G5E985;G3V1W7;Q8NCL8	.;.;.;TM116_HUMAN	H	197;140;140;140;46;232	ENSP00000347620:R197H;ENSP00000346883:R140H;ENSP00000450377:R140H;ENSP00000395861:R140H;ENSP00000447731:R232H	ENSP00000346883:R140H	R	-	2	0	TMEM116	110856111	0.106000	0.21978	0.171000	0.22900	0.060000	0.15804	1.556000	0.36288	0.540000	0.28808	0.467000	0.42956	CGC		0.498	TMEM116-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000405026.3	NM_138341		6	50	0	0	0	1	0	6	50					T	112371728	C	T	112371728	3	4	435	1	0	0	0	0	1	0	0	0	16027	768	27	1	330	1	TMEM116	12	112371728	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	180088	112371728	21480167	5887	26812											
C12orf51	283450	broad.mit.edu	37	chr12	112616740	112616740	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccttggggcacgcacctgacGctgttgagcacagccttgtc	6	9	12	14	2	0	2	0	2	0	0	1	2	0	2	3	2	2	5	3	2	0	3	rs547829141		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:112616740G>A	ENST00000430131.2	-	63	11237	c.10092C>T	c.(10090-10092)agC>agT	p.S3364S	HECTD4_ENST00000550722.1_Silent_p.S3640S|HECTD4_ENST00000377560.5_Silent_p.S3614S			Q9Y4D8	HECD4_HUMAN	HECT domain containing E3 ubiquitin protein ligase 4	3364					glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)										CGCACCTGACGCTGTTGAGCA	0.677													G|||	1	0.000199681	0	0	5008	,	,		16277	0.001		0	False		,,,				2504	0					ENST00000550722.1																			0											c.(10918-10920)agC>agT		HECT domain containing E3 ubiquitin protein ligase 4							22	25	24					12																	112616740		2032	4194	6226	SO:0001819	synonymous_variant	283450							g.chr12:112616740G>A	AK091473		12q24.13	2013-07-17	2012-08-14	2012-08-14	ENSG00000173064	ENSG00000173064			26611	protein-coding gene	gene with protein product			"chromosome 12 open reading frame 51"	C12orf51		21270382	Standard	NM_001109662		Approved	FLJ34154, KIAA0614	uc021reb.1	Q9Y4D8	OTTHUMG00000150719	ENST00000430131.2:c.10092C>T	12.37:g.112616740G>A						HECTD4_ENST00000377560.5_Silent_p.S3614S|HECTD4_ENST00000430131.2_Silent_p.S3364S	p.S3640S	NM_001109662.3	NP_001103132.3					64	11315	-								L8B0P6|Q3MJD5|Q6P0A0|Q7L530|Q8NB70|Q8WU73|Q96NT9|Q9NZS4|Q9UFT6	Silent	SNP	ENST00000430131.2	37	c.10920C>T																																																																																					0.677	HECTD4-202	KNOWN	basic	protein_coding	protein_coding		NM_173813		12	11	0	0	0	1	0	12	11					A	112616740	G	A	112616740	2	1	435	1	0	0	0	0	0	0	0	1	1696	1078	38	1		1	C12orf51	12	112616740	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	245012	112616740	21235155	5888	26813											
C12orf51	283450	broad.mit.edu	37	chr12	112622030	112622030	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ttgatggggcgggcggcgagGggctggttgtccagggaagt	5	8	22	6	3	0	1	0	1	0	0	1	3	1	2	1	8	0	2	1	8	1	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:112622030G>T	ENST00000430131.2	-	60	10619	c.9474C>A	c.(9472-9474)ccC>ccA	p.P3158P	HECTD4_ENST00000550722.1_Silent_p.P3434P|HECTD4_ENST00000377560.5_Silent_p.P3408P			Q9Y4D8	HECD4_HUMAN	HECT domain containing E3 ubiquitin protein ligase 4	3158					glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)										GGGCGGCGAGGGGCTGGTTGT	0.607																																						ENST00000550722.1																			0											c.(10300-10302)ccC>ccA		HECT domain containing E3 ubiquitin protein ligase 4							98	111	107					12																	112622030		1960	4146	6106	SO:0001819	synonymous_variant	283450							g.chr12:112622030G>T	AK091473		12q24.13	2013-07-17	2012-08-14	2012-08-14	ENSG00000173064	ENSG00000173064			26611	protein-coding gene	gene with protein product			"chromosome 12 open reading frame 51"	C12orf51		21270382	Standard	NM_001109662		Approved	FLJ34154, KIAA0614	uc021reb.1	Q9Y4D8	OTTHUMG00000150719	ENST00000430131.2:c.9474C>A	12.37:g.112622030G>T						HECTD4_ENST00000377560.5_Silent_p.P3408P|HECTD4_ENST00000430131.2_Silent_p.P3158P	p.P3434P	NM_001109662.3	NP_001103132.3					61	10697	-								L8B0P6|Q3MJD5|Q6P0A0|Q7L530|Q8NB70|Q8WU73|Q96NT9|Q9NZS4|Q9UFT6	Silent	SNP	ENST00000430131.2	37	c.10302C>A																																																																																					0.607	HECTD4-202	KNOWN	basic	protein_coding	protein_coding		NM_173813		14	113	1	0	2.32078e-09	1	2.46314e-09	14	113					T	112622030	G	T	112622030	2	4	435	1	0	0	0	0	0	0	0	1	1696	1219	43	5		5	C12orf51	12	112622030	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	5290	112622030	21229865	5889	26814											
C12orf51	283450	broad.mit.edu	37	chr12	112622183	112622183	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aggctttcctggctggacacCgcgtggggctccaacaggcc	6	7	14	14	2	0	0	0	0	0	0	2	1	2	1	4	6	1	3	4	6	1	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:112622183C>T	ENST00000430131.2	-	60	10466	c.9321G>A	c.(9319-9321)gcG>gcA	p.A3107A	HECTD4_ENST00000550722.1_Silent_p.A3383A|HECTD4_ENST00000377560.5_Silent_p.A3357A			Q9Y4D8	HECD4_HUMAN	HECT domain containing E3 ubiquitin protein ligase 4	3107					glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)										GGCTGGACACCGCGTGGGGCT	0.687																																						ENST00000550722.1																			0											c.(10147-10149)gcG>gcA		HECT domain containing E3 ubiquitin protein ligase 4							16	21	19					12																	112622183		2056	4213	6269	SO:0001819	synonymous_variant	283450							g.chr12:112622183C>T	AK091473		12q24.13	2013-07-17	2012-08-14	2012-08-14	ENSG00000173064	ENSG00000173064			26611	protein-coding gene	gene with protein product			"chromosome 12 open reading frame 51"	C12orf51		21270382	Standard	NM_001109662		Approved	FLJ34154, KIAA0614	uc021reb.1	Q9Y4D8	OTTHUMG00000150719	ENST00000430131.2:c.9321G>A	12.37:g.112622183C>T						HECTD4_ENST00000377560.5_Silent_p.A3357A|HECTD4_ENST00000430131.2_Silent_p.A3107A	p.A3383A	NM_001109662.3	NP_001103132.3					61	10544	-								L8B0P6|Q3MJD5|Q6P0A0|Q7L530|Q8NB70|Q8WU73|Q96NT9|Q9NZS4|Q9UFT6	Silent	SNP	ENST00000430131.2	37	c.10149G>A																																																																																					0.687	HECTD4-202	KNOWN	basic	protein_coding	protein_coding		NM_173813		5	8	0	0	0	1	0	5	8					T	112622183	C	T	112622183	2	4	435	1	0	0	0	0	0	0	0	1	1696	639	23	2		2	C12orf51	12	112622183	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	153	112622183	21229712	5890	26815											
C12orf51	283450	broad.mit.edu	37	chr12	112622525	112622525	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgcaggccttgcggatggcGcctctgactacgccctcgtc	4	10	12	15	4	1	1	0	1	1	0	3	2	1	2	3	3	3	1	3	3	1	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:112622525G>A	ENST00000430131.2	-	60	10124	c.8979C>T	c.(8977-8979)ggC>ggT	p.G2993G	HECTD4_ENST00000550722.1_Silent_p.G3269G|HECTD4_ENST00000377560.5_Silent_p.G3243G			Q9Y4D8	HECD4_HUMAN	HECT domain containing E3 ubiquitin protein ligase 4	2993					glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)										TGCGGATGGCGCCTCTGACTA	0.652																																						ENST00000550722.1																			0											c.(9805-9807)ggC>ggT		HECT domain containing E3 ubiquitin protein ligase 4							121	149	139					12																	112622525		2144	4252	6396	SO:0001819	synonymous_variant	283450							g.chr12:112622525G>A	AK091473		12q24.13	2013-07-17	2012-08-14	2012-08-14	ENSG00000173064	ENSG00000173064			26611	protein-coding gene	gene with protein product			"chromosome 12 open reading frame 51"	C12orf51		21270382	Standard	NM_001109662		Approved	FLJ34154, KIAA0614	uc021reb.1	Q9Y4D8	OTTHUMG00000150719	ENST00000430131.2:c.8979C>T	12.37:g.112622525G>A						HECTD4_ENST00000377560.5_Silent_p.G3243G|HECTD4_ENST00000430131.2_Silent_p.G2993G	p.G3269G	NM_001109662.3	NP_001103132.3					61	10202	-								L8B0P6|Q3MJD5|Q6P0A0|Q7L530|Q8NB70|Q8WU73|Q96NT9|Q9NZS4|Q9UFT6	Silent	SNP	ENST00000430131.2	37	c.9807C>T																																																																																					0.652	HECTD4-202	KNOWN	basic	protein_coding	protein_coding		NM_173813		50	52	0	0	0	1	0	50	52					A	112622525	G	A	112622525	2	1	435	1	0	0	0	0	0	0	0	1	1696	1074	38	1		1	C12orf51	12	112622525	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	342	112622525	21229370	5891	26816											
C12orf51	283450	broad.mit.edu	37	chr12	112666494	112666494	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagacaatggaatagtcaatGtgtctgacgcttgcgaagtc	12	11	11	7	2	2	2	1	1	1	1	3	4	2	3	0	1	1	1	0	1	6	3	rs201183593		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:112666494G>A	ENST00000430131.2	-	41	6520	c.5375C>T	c.(5374-5376)aCa>aTa	p.T1792I	HECTD4_ENST00000550722.1_Missense_Mutation_p.T2068I|HECTD4_ENST00000377560.5_Missense_Mutation_p.T2042I			Q9Y4D8	HECD4_HUMAN	HECT domain containing E3 ubiquitin protein ligase 4	1792					glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)										AATAGTCAATGTGTCTGACGC	0.403																																						ENST00000550722.1																			0											c.(6202-6204)aCa>aTa		HECT domain containing E3 ubiquitin protein ligase 4							155	152	153					12																	112666494		1924	4129	6053	SO:0001583	missense	283450							g.chr12:112666494G>A	AK091473		12q24.13	2013-07-17	2012-08-14	2012-08-14	ENSG00000173064	ENSG00000173064			26611	protein-coding gene	gene with protein product			"chromosome 12 open reading frame 51"	C12orf51		21270382	Standard	NM_001109662		Approved	FLJ34154, KIAA0614	uc021reb.1	Q9Y4D8	OTTHUMG00000150719	ENST00000430131.2:c.5375C>T	12.37:g.112666494G>A	ENSP00000404379:p.Thr1792Ile					HECTD4_ENST00000377560.5_Missense_Mutation_p.T2042I|HECTD4_ENST00000430131.2_Missense_Mutation_p.T1792I	p.T2068I	NM_001109662.3	NP_001103132.3					42	6598	-								L8B0P6|Q3MJD5|Q6P0A0|Q7L530|Q8NB70|Q8WU73|Q96NT9|Q9NZS4|Q9UFT6	Missense_Mutation	SNP	ENST00000430131.2	37	c.6203C>T		.	.	.	.	.	.	.	.	.	.	G	16.53	3.149623	0.57151	.	.	ENSG00000173064	ENST00000377560;ENST00000430131;ENST00000550722	T;T;T	0.47177	0.85;0.85;0.85	6.17	6.17	0.99709	.	.	.	.	.	T	0.34019	0.0883	N	0.08118	0	0.50313	D	0.999869	B	0.10296	0.003	B	0.08055	0.003	T	0.12041	-1.0563	9	0.59425	D	0.04	.	19.8676	0.96824	0.0:0.0:1.0:0.0	.	1792	Q9Y4D8	K0614_HUMAN	I	2042;1792;2068	ENSP00000366783:T2042I;ENSP00000404379:T1792I;ENSP00000449784:T2068I	ENSP00000366783:T2042I	T	-	2	0	C12orf51	111150877	1.000000	0.71417	0.978000	0.43139	0.989000	0.77384	5.944000	0.70219	2.941000	0.99782	0.655000	0.94253	ACA		0.403	HECTD4-202	KNOWN	basic	protein_coding	protein_coding		NM_173813		10	45	0	0	0	1	0	10	45					A	112666494	G	A	112666494	3	1	435	1	0	0	0	0	1	0	0	0	1696	1377	48	3	6755	3	C12orf51	12	112666494	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	43969	112666494	21185401	5892	26817											
C12orf51	283450	broad.mit.edu	37	chr12	112667566	112667566	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gtgcacacagtgcggcaacgGcctggcgtgcaattctctga	8	8	13	12	3	1	1	0	1	1	0	2	1	1	1	1	3	4	3	1	3	2	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:112667566G>A	ENST00000430131.2	-	40	6334	c.5189C>T	c.(5188-5190)gCc>gTc	p.A1730V	HECTD4_ENST00000550722.1_Missense_Mutation_p.A2006V|HECTD4_ENST00000377560.5_Missense_Mutation_p.A1980V			Q9Y4D8	HECD4_HUMAN	HECT domain containing E3 ubiquitin protein ligase 4	1730					glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)										TGCGGCAACGGCCTGGCGTGC	0.493																																						ENST00000550722.1																			0											c.(6016-6018)gCc>gTc		HECT domain containing E3 ubiquitin protein ligase 4							148	151	150					12																	112667566		1968	4138	6106	SO:0001583	missense	283450							g.chr12:112667566G>A	AK091473		12q24.13	2013-07-17	2012-08-14	2012-08-14	ENSG00000173064	ENSG00000173064			26611	protein-coding gene	gene with protein product			"chromosome 12 open reading frame 51"	C12orf51		21270382	Standard	NM_001109662		Approved	FLJ34154, KIAA0614	uc021reb.1	Q9Y4D8	OTTHUMG00000150719	ENST00000430131.2:c.5189C>T	12.37:g.112667566G>A	ENSP00000404379:p.Ala1730Val					HECTD4_ENST00000377560.5_Missense_Mutation_p.A1980V|HECTD4_ENST00000430131.2_Missense_Mutation_p.A1730V	p.A2006V	NM_001109662.3	NP_001103132.3					41	6412	-								L8B0P6|Q3MJD5|Q6P0A0|Q7L530|Q8NB70|Q8WU73|Q96NT9|Q9NZS4|Q9UFT6	Missense_Mutation	SNP	ENST00000430131.2	37	c.6017C>T		.	.	.	.	.	.	.	.	.	.	G	21.7	4.183494	0.78677	.	.	ENSG00000173064	ENST00000377560;ENST00000430131;ENST00000550722	T;T;T	0.48522	0.81;0.81;0.81	5.96	5.96	0.96718	.	.	.	.	.	T	0.50514	0.1620	N	0.08118	0	0.80722	D	1	D	0.63880	0.993	D	0.68192	0.956	T	0.53173	-0.8476	9	0.30078	T	0.28	.	20.4192	0.99033	0.0:0.0:1.0:0.0	.	1730	Q9Y4D8	K0614_HUMAN	V	1980;1730;2006	ENSP00000366783:A1980V;ENSP00000404379:A1730V;ENSP00000449784:A2006V	ENSP00000366783:A1980V	A	-	2	0	C12orf51	111151949	1.000000	0.71417	0.972000	0.41901	0.884000	0.51177	9.175000	0.94831	2.831000	0.97527	0.650000	0.86243	GCC		0.493	HECTD4-202	KNOWN	basic	protein_coding	protein_coding		NM_173813		38	43	0	0	0	1	0	38	43					A	112667566	G	A	112667566	3	1	435	1	0	0	0	0	1	0	0	0	1696	1203	42	3	6945	3	C12orf51	12	112667566	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	1072	112667566	21184329	5893	26818											
C12orf51	283450	broad.mit.edu	37	chr12	112672997	112672997	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggatctttatctcctttcaaGgaattcttgggactggtttt	7	18	9	7	0	4	0	1	0	3	0	5	3	4	3	1	4	0	1	1	4	3	7			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:112672997G>A	ENST00000430131.2	-	36	5678	c.4533C>T	c.(4531-4533)tcC>tcT	p.S1511S	HECTD4_ENST00000550722.1_Silent_p.S1787S|HECTD4_ENST00000377560.5_Silent_p.S1761S			Q9Y4D8	HECD4_HUMAN	HECT domain containing E3 ubiquitin protein ligase 4	1511					glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)										CTCCTTTCAAGGAATTCTTGG	0.448																																						ENST00000550722.1																			0											c.(5359-5361)tcC>tcT		HECT domain containing E3 ubiquitin protein ligase 4							89	87	87					12																	112672997		1883	4113	5996	SO:0001819	synonymous_variant	283450							g.chr12:112672997G>A	AK091473		12q24.13	2013-07-17	2012-08-14	2012-08-14	ENSG00000173064	ENSG00000173064			26611	protein-coding gene	gene with protein product			"chromosome 12 open reading frame 51"	C12orf51		21270382	Standard	NM_001109662		Approved	FLJ34154, KIAA0614	uc021reb.1	Q9Y4D8	OTTHUMG00000150719	ENST00000430131.2:c.4533C>T	12.37:g.112672997G>A						HECTD4_ENST00000377560.5_Silent_p.S1761S|HECTD4_ENST00000430131.2_Silent_p.S1511S	p.S1787S	NM_001109662.3	NP_001103132.3					37	5756	-								L8B0P6|Q3MJD5|Q6P0A0|Q7L530|Q8NB70|Q8WU73|Q96NT9|Q9NZS4|Q9UFT6	Silent	SNP	ENST00000430131.2	37	c.5361C>T																																																																																					0.448	HECTD4-202	KNOWN	basic	protein_coding	protein_coding		NM_173813		9	19	0	0	0	1	0	9	19					A	112672997	G	A	112672997	2	1	435	1	0	0	0	0	0	0	0	1	1696	987	35	3		3	C12orf51	12	112672997	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	5431	112672997	21178898	5894	26819											
C12orf51	283450	broad.mit.edu	37	chr12	112711577	112711577	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gagcatgtccatagcatgttGttcactgtgtcataacacgc	10	12	9	10	1	2	0	2	0	0	0	3	1	3	0	1	0	3	4	1	0	2	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:112711577G>A	ENST00000430131.2	-	10	1673	c.528C>T	c.(526-528)aaC>aaT	p.N176N	HECTD4_ENST00000550722.1_Silent_p.N464N|HECTD4_ENST00000377560.5_Silent_p.N426N			Q9Y4D8	HECD4_HUMAN	HECT domain containing E3 ubiquitin protein ligase 4	176					glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)										ATAGCATGTTGTTCACTGTGT	0.443																																						ENST00000550722.1																			0											c.(1390-1392)aaC>aaT		HECT domain containing E3 ubiquitin protein ligase 4							115	109	111					12																	112711577		2067	4206	6273	SO:0001819	synonymous_variant	283450							g.chr12:112711577G>A	AK091473		12q24.13	2013-07-17	2012-08-14	2012-08-14	ENSG00000173064	ENSG00000173064			26611	protein-coding gene	gene with protein product			"chromosome 12 open reading frame 51"	C12orf51		21270382	Standard	NM_001109662		Approved	FLJ34154, KIAA0614	uc021reb.1	Q9Y4D8	OTTHUMG00000150719	ENST00000430131.2:c.528C>T	12.37:g.112711577G>A						HECTD4_ENST00000377560.5_Silent_p.N426N|HECTD4_ENST00000430131.2_Silent_p.N176N	p.N464N	NM_001109662.3	NP_001103132.3					11	1787	-								L8B0P6|Q3MJD5|Q6P0A0|Q7L530|Q8NB70|Q8WU73|Q96NT9|Q9NZS4|Q9UFT6	Silent	SNP	ENST00000430131.2	37	c.1392C>T																																																																																					0.443	HECTD4-202	KNOWN	basic	protein_coding	protein_coding		NM_173813		26	37	0	0	0	1	0	26	37					A	112711577	G	A	112711577	2	1	435	1	0	0	0	0	0	0	0	1	1696	1368	48	3		3	C12orf51	12	112711577	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	38580	112711577	21140318	5895	26820											
RPL6	6128	broad.mit.edu	37	chr12	112844588	112844588	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cagtgaggatgatcagaatgGtcccgggggtaatgctggct	9	9	16	7	1	1	3	1	2	0	1	2	4	2	4	1	5	1	3	1	5	2	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:112844588G>T	ENST00000424576.2	-	4	628	c.443C>A	c.(442-444)aCc>aAc	p.T148N	RPL6_ENST00000202773.9_Missense_Mutation_p.T148N	NM_001024662.1	NP_001019833.1	Q02878	RL6_HUMAN	ribosomal protein L6	148					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of transcription, DNA-templated (GO:0006355)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			cervix(1)|large_intestine(6)|lung(3)	10						GATCAGAATGGTCCCGGGGGT	0.562																																						ENST00000424576.2																			0				cervix(1)|large_intestine(6)|lung(3)	10						c.(442-444)aCc>aAc		ribosomal protein L6							43	37	39					12																	112844588		2203	4299	6502	SO:0001583	missense	6128				endocrine pancreas development|regulation of transcription, DNA-dependent|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	DNA binding|RNA binding|structural constituent of ribosome	g.chr12:112844588G>T	X69391	CCDS9162.1	12q24.13	2014-06-05				ENSG00000089009		"L ribosomal proteins"	10362	protein-coding gene	gene with protein product		603703		TXREB1		8479925, 8457378	Standard	XM_005253920		Approved	TAXREB107, L6	uc001ttv.3	Q02878		ENST00000424576.2:c.443C>A	12.37:g.112844588G>T	ENSP00000403172:p.Thr148Asn					RPL6_ENST00000202773.9_Missense_Mutation_p.T148N	p.T148N	NM_001024662.1	NP_001019833.1	Q02878	RL6_HUMAN			4	628	-			148					Q2M3Q3|Q8WW97	Missense_Mutation	SNP	ENST00000424576.2	37	c.443C>A	CCDS9162.1	.	.	.	.	.	.	.	.	.	.	G	15.10	2.732162	0.48939	.	.	ENSG00000089009	ENST00000202773;ENST00000424576;ENST00000549923;ENST00000550238;ENST00000549847	T;T	0.37915	1.17;1.17	4.96	4.96	0.65561	Translation protein SH3-like, subgroup (1);	0.000000	0.85682	D	0.000000	T	0.58623	0.2135	H	0.97265	3.97	0.80722	D	1	B	0.30326	0.276	B	0.30179	0.112	T	0.71027	-0.4711	10	0.62326	D	0.03	.	18.2336	0.89942	0.0:0.0:1.0:0.0	.	148	Q02878	RL6_HUMAN	N	148;148;88;37;148	ENSP00000202773:T148N;ENSP00000403172:T148N	ENSP00000202773:T148N	T	-	2	0	RPL6	111328971	1.000000	0.71417	0.933000	0.37362	0.154000	0.21943	9.247000	0.95444	2.308000	0.77769	0.591000	0.81541	ACC		0.562	RPL6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405422.1			14	17	1	0	1.5842e-08	1	1.67426e-08	14	17					T	112844588	G	T	112844588	3	4	435	1	0	0	0	0	1	0	0	0	13598	1261	44	5	439	5	RPL6	12	112844588	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	133011	112844588	21007307	5896	26821											
RPL6	6128	broad.mit.edu	37	chr12	112846078	112846078	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	taaccacccgggtaccgccgTtcttgtcaccaccaactggt	8	9	8	16	3	2	0	1	0	1	0	2	0	2	0	6	2	3	2	6	2	3	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:112846078T>C	ENST00000424576.2	-	3	487	c.302A>G	c.(301-303)aAc>aGc	p.N101S	RPL6_ENST00000202773.9_Missense_Mutation_p.N101S	NM_001024662.1	NP_001019833.1	Q02878	RL6_HUMAN	ribosomal protein L6	101					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of transcription, DNA-templated (GO:0006355)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			cervix(1)|large_intestine(6)|lung(3)	10						GGTACCGCCGTTCTTGTCACC	0.403																																						ENST00000424576.2																			0				cervix(1)|large_intestine(6)|lung(3)	10						c.(301-303)aAc>aGc		ribosomal protein L6							81	83	82					12																	112846078		2203	4300	6503	SO:0001583	missense	6128				endocrine pancreas development|regulation of transcription, DNA-dependent|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	DNA binding|RNA binding|structural constituent of ribosome	g.chr12:112846078T>C	X69391	CCDS9162.1	12q24.13	2014-06-05				ENSG00000089009		"L ribosomal proteins"	10362	protein-coding gene	gene with protein product		603703		TXREB1		8479925, 8457378	Standard	XM_005253920		Approved	TAXREB107, L6	uc001ttv.3	Q02878		ENST00000424576.2:c.302A>G	12.37:g.112846078T>C	ENSP00000403172:p.Asn101Ser					RPL6_ENST00000202773.9_Missense_Mutation_p.N101S	p.N101S	NM_001024662.1	NP_001019833.1	Q02878	RL6_HUMAN			3	487	-			101					Q2M3Q3|Q8WW97	Missense_Mutation	SNP	ENST00000424576.2	37	c.302A>G	CCDS9162.1	.	.	.	.	.	.	.	.	.	.	T	20.9	4.064968	0.76187	.	.	ENSG00000089009	ENST00000202773;ENST00000424576;ENST00000549923;ENST00000549847;ENST00000553213;ENST00000551291;ENST00000548343	T;T	0.35421	1.31;1.31	5.24	5.24	0.73138	.	0.000000	0.85682	D	0.000000	T	0.66096	0.2755	M	0.88181	2.935	0.58432	D	0.999991	D	0.89917	1.0	D	0.76071	0.987	T	0.74137	-0.3762	10	0.87932	D	0	.	15.1616	0.72791	0.0:0.0:0.0:1.0	.	101	Q02878	RL6_HUMAN	S	101;101;41;101;101;101;101	ENSP00000202773:N101S;ENSP00000403172:N101S	ENSP00000202773:N101S	N	-	2	0	RPL6	111330461	1.000000	0.71417	0.996000	0.52242	0.953000	0.61014	7.604000	0.82830	1.992000	0.58205	0.533000	0.62120	AAC		0.403	RPL6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405422.1			5	68	0	0	0	1	0	5	68					C	112846078	T	C	112846078	3	2	435	1	0	0	0	0	1	0	0	0	13598	1725	60	4	584	4	RPL6	12	112846078	Missense_Mutation	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	1490	112846078	21005817	5897	26822											
PTPN11	5781	broad.mit.edu	37	chr12	112924336	112924336	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggacctggccggaccacggcGtgcccagcgaccctgggggc	5	3	17	16	4	0	0	0	0	0	0	0	3	0	2	5	6	2	0	5	6	0	0	rs397507536		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:112924336G>A	ENST00000351677.2	+	11	1480	c.1282G>A	c.(1282-1284)Gtg>Atg	p.V428M	PTPN11_ENST00000392597.1_Missense_Mutation_p.V428M	NM_002834.3	NP_002825.3	Q06124	PTN11_HUMAN	protein tyrosine phosphatase, non-receptor type 11	432	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				abortive mitotic cell cycle (GO:0033277)|activation of MAPK activity (GO:0000187)|atrioventricular canal development (GO:0036302)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|brain development (GO:0007420)|cytokine-mediated signaling pathway (GO:0019221)|DNA damage checkpoint (GO:0000077)|ephrin receptor signaling pathway (GO:0048013)|epidermal growth factor receptor signaling pathway (GO:0007173)|ERBB signaling pathway (GO:0038127)|face morphogenesis (GO:0060325)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|genitalia development (GO:0048806)|glucose homeostasis (GO:0042593)|heart development (GO:0007507)|hormone metabolic process (GO:0042445)|hormone-mediated signaling pathway (GO:0009755)|innate immune response (GO:0045087)|inner ear development (GO:0048839)|insulin receptor signaling pathway (GO:0008286)|integrin-mediated signaling pathway (GO:0007229)|interferon-gamma-mediated signaling pathway (GO:0060333)|leukocyte migration (GO:0050900)|megakaryocyte development (GO:0035855)|multicellular organismal reproductive process (GO:0048609)|negative regulation of cell adhesion mediated by integrin (GO:0033629)|negative regulation of cortisol secretion (GO:0051463)|negative regulation of growth hormone secretion (GO:0060125)|negative regulation of insulin secretion (GO:0046676)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ growth (GO:0035265)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet formation (GO:0030220)|positive regulation of glucose import in response to insulin stimulus (GO:2001275)|positive regulation of hormone secretion (GO:0046887)|regulation of cell adhesion mediated by integrin (GO:0033628)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of multicellular organism growth (GO:0040014)|regulation of protein export from nucleus (GO:0046825)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|T cell costimulation (GO:0031295)|triglyceride metabolic process (GO:0006641)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein complex (GO:0043234)	insulin receptor binding (GO:0005158)|non-membrane spanning protein tyrosine phosphatase activity (GO:0004726)|phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)|SH3/SH2 adaptor activity (GO:0005070)	p.V428M(1)		NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(406)|kidney(2)|large_intestine(6)|lung(16)|ovary(1)|skin(1)|soft_tissue(3)|stomach(3)	451						GGACCACGGCGTGCCCAGCGA	0.572			Mis		"JMML, AML, MDS"		Noonan Syndrome		Noonan syndrome																													ENST00000351677.2				Dom	yes		12	12q24.1	5781	Mis	"protein tyrosine phosphatase, non-receptor type 11"	yes	Noonan Syndrome	L			"JMML, AML, MDS"		1	Substitution - Missense(1)	p.V428M(1)	lung(1)	NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(406)|kidney(2)|large_intestine(6)|lung(16)|ovary(1)|skin(1)|soft_tissue(3)|stomach(3)	451						c.(1282-1284)Gtg>Atg		protein tyrosine phosphatase, non-receptor type 11							48	46	47					12																	112924336		2203	4300	6503	SO:0001583	missense	5781	Noonan syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome	axon guidance|cell junction assembly|ephrin receptor signaling pathway|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|interferon-gamma-mediated signaling pathway|leukocyte migration|platelet activation|regulation of cell adhesion mediated by integrin|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|T cell costimulation|type I interferon-mediated signaling pathway	cytosol	non-membrane spanning protein tyrosine phosphatase activity|protein binding	g.chr12:112924336G>A	D13540	CCDS9163.1, CCDS58280.1	12q24.1	2014-09-17	2008-07-31		ENSG00000179295	ENSG00000179295		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor", "SH2 domain containing"	9644	protein-coding gene	gene with protein product		176876	"Noonan syndrome 1"	NS1		7894486, 1280823	Standard	NM_080601		Approved	BPTP3, SH-PTP2, SHP-2, PTP2C, SHP2	uc001ttx.3	Q06124	OTTHUMG00000134334	ENST00000351677.2:c.1282G>A	12.37:g.112924336G>A	ENSP00000340944:p.Val428Met					PTPN11_ENST00000392597.1_Missense_Mutation_p.V428M	p.V428M	NM_002834.3	NP_002825.3	Q06124	PTN11_HUMAN			11	1480	+			432			Tyrosine-protein phosphatase.		A8K1D9|Q96HD7	Missense_Mutation	SNP	ENST00000351677.2	37	c.1282G>A	CCDS9163.1	.	.	.	.	.	.	.	.	.	.	G	31	5.083546	0.94050	.	.	ENSG00000179295	ENST00000392597;ENST00000351677	D;D	0.99445	-5.91;-5.91	5.18	5.18	0.71444	.	0.000000	0.85682	D	0.000000	D	0.99764	0.9904	H	0.97874	4.095	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.997;0.998	D	0.96945	0.9690	10	0.87932	D	0	.	18.6833	0.91554	0.0:0.0:1.0:0.0	.	428;428	Q06124-2;Q06124-3	.;.	M	428	ENSP00000376376:V428M;ENSP00000340944:V428M	ENSP00000340944:V428M	V	+	1	0	PTPN11	111408719	1.000000	0.71417	0.953000	0.39169	0.829000	0.46940	9.476000	0.97823	2.406000	0.81754	0.563000	0.77884	GTG		0.572	PTPN11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259496.2			13	14	0	0	0	1	0	13	14					A	112924336	G	A	112924336	3	1	435	1	0	0	0	0	1	0	0	0	12780	1145	40	1	1324	1	PTPN11	12	112924336	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	78258	112924336	20927559	5898	26823											
OAS3	4940	broad.mit.edu	37	chr12	113379554	113379554	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtccctggtctgagactcacGtttcctgagcagagcgtgcc	6	10	12	13	2	2	3	1	2	1	2	4	4	4	3	3	1	3	2	3	1	0	1	rs373041711		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:113379554G>A	ENST00000228928.7	+	2	536	c.357G>A	c.(355-357)acG>acA	p.T119T	RP1-71H24.1_ENST00000552784.1_RNA|OAS3_ENST00000551007.1_Silent_p.T119T|OAS3_ENST00000548514.1_Silent_p.T119T|OAS3_ENST00000546638.1_Intron	NM_006187.2	NP_006178.2	Q9Y6K5	OAS3_HUMAN	2'-5'-oligoadenylate synthetase 3, 100kDa	119	OAS domain 1.				cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of viral genome replication (GO:0045071)|nucleobase-containing compound metabolic process (GO:0006139)|regulation of ribonuclease activity (GO:0060700)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	2'-5'-oligoadenylate synthetase activity (GO:0001730)|ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)			breast(3)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(6)|ovary(1)|skin(2)	27						TGAGACTCACGTTTCCTGAGC	0.602																																						ENST00000228928.7																			0				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(6)|ovary(1)|skin(2)	27						c.(355-357)acG>acA		2'-5'-oligoadenylate synthetase 3, 100kDa		G		0,4184		0,0,2092	102	108	106		357	2.7	0	12		106	1,8473		0,1,4236	no	coding-synonymous	OAS3	NM_006187.2		0,1,6328	AA,AG,GG		0.0118,0.0,0.0079		119/1088	113379554	1,12657	2092	4237	6329	SO:0001819	synonymous_variant	4940				interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway	microsome	ATP binding|nucleotidyltransferase activity|RNA binding	g.chr12:113379554G>A	AF063613	CCDS44981.1	12q24.2	2008-05-02	2002-08-29			ENSG00000111331			8088	protein-coding gene	gene with protein product		603351	"2'-5'-oligoadenylate synthetase 3 (100 kD)"			9790745	Standard	NM_006187		Approved		uc001tug.3	Q9Y6K5	OTTHUMG00000169795	ENST00000228928.7:c.357G>A	12.37:g.113379554G>A						OAS3_ENST00000546638.1_Intron|OAS3_ENST00000548514.1_Silent_p.T119T|RP1-71H24.1_ENST00000552784.1_RNA|OAS3_ENST00000551007.1_Silent_p.T119T	p.T119T	NM_006187.2	NP_006178.2	Q9Y6K5	OAS3_HUMAN			2	536	+			119			OAS domain 1.		Q2HJ14|Q9H3P5	Silent	SNP	ENST00000228928.7	37	c.357G>A	CCDS44981.1																																																																																				0.602	OAS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405920.1			35	35	0	0	0	1	0	35	35					A	113379554	G	A	113379554	2	1	435	1	0	0	0	0	0	0	0	1	10801	1132	40	1		1	OAS3	12	113379554	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	455218	113379554	20472341	5899	26824											
OAS3	4940	broad.mit.edu	37	chr12	113388746	113388746	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acagccctgaagagctggacGgatgttagcctgctgcctgc	8	8	13	12	1	0	2	0	1	0	1	0	4	0	4	3	2	6	3	3	2	2	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:113388746G>A	ENST00000228928.7	+	7	1802	c.1623G>A	c.(1621-1623)acG>acA	p.T541T	RP1-71H24.1_ENST00000552784.1_RNA	NM_006187.2	NP_006178.2	Q9Y6K5	OAS3_HUMAN	2'-5'-oligoadenylate synthetase 3, 100kDa	541	OAS domain 2.				cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of viral genome replication (GO:0045071)|nucleobase-containing compound metabolic process (GO:0006139)|regulation of ribonuclease activity (GO:0060700)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	2'-5'-oligoadenylate synthetase activity (GO:0001730)|ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)			breast(3)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(6)|ovary(1)|skin(2)	27						AGAGCTGGACGGATGTTAGCC	0.622																																						ENST00000228928.7																			0				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(6)|ovary(1)|skin(2)	27						c.(1621-1623)acG>acA		2'-5'-oligoadenylate synthetase 3, 100kDa							55	57	57					12																	113388746		2039	4190	6229	SO:0001819	synonymous_variant	4940				interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway	microsome	ATP binding|nucleotidyltransferase activity|RNA binding	g.chr12:113388746G>A	AF063613	CCDS44981.1	12q24.2	2008-05-02	2002-08-29			ENSG00000111331			8088	protein-coding gene	gene with protein product		603351	"2'-5'-oligoadenylate synthetase 3 (100 kD)"			9790745	Standard	NM_006187		Approved		uc001tug.3	Q9Y6K5	OTTHUMG00000169795	ENST00000228928.7:c.1623G>A	12.37:g.113388746G>A						RP1-71H24.1_ENST00000552784.1_RNA	p.T541T	NM_006187.2	NP_006178.2	Q9Y6K5	OAS3_HUMAN			7	1802	+			541			OAS domain 2.		Q2HJ14|Q9H3P5	Silent	SNP	ENST00000228928.7	37	c.1623G>A	CCDS44981.1																																																																																				0.622	OAS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405920.1			11	18	0	0	0	1	0	11	18					A	113388746	G	A	113388746	2	1	435	1	0	0	0	0	0	0	0	1	10801	1103	39	2		2	OAS3	12	113388746	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	9192	113388746	20463149	5900	26825											
OAS3	4940	broad.mit.edu	37	chr12	113407445	113407445	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ggatccggctgacccgacagGcaacctgggccacaatgccc	9	4	12	16	2	0	1	0	1	0	0	1	3	1	2	5	4	2	2	5	4	2	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:113407445G>A	ENST00000228928.7	+	15	3316	c.3137G>A	c.(3136-3138)gGc>gAc	p.G1046D	RP1-71H24.1_ENST00000552784.1_RNA	NM_006187.2	NP_006178.2	Q9Y6K5	OAS3_HUMAN	2'-5'-oligoadenylate synthetase 3, 100kDa	1046	OAS domain 3.				cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of viral genome replication (GO:0045071)|nucleobase-containing compound metabolic process (GO:0006139)|regulation of ribonuclease activity (GO:0060700)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	2'-5'-oligoadenylate synthetase activity (GO:0001730)|ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)			breast(3)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(6)|ovary(1)|skin(2)	27						GACCCGACAGGCAACCTGGGC	0.607																																						ENST00000228928.7																			0				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(6)|ovary(1)|skin(2)	27						c.(3136-3138)gGc>gAc		2'-5'-oligoadenylate synthetase 3, 100kDa							28	30	30					12																	113407445		2075	4217	6292	SO:0001583	missense	4940				interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway	microsome	ATP binding|nucleotidyltransferase activity|RNA binding	g.chr12:113407445G>A	AF063613	CCDS44981.1	12q24.2	2008-05-02	2002-08-29			ENSG00000111331			8088	protein-coding gene	gene with protein product		603351	"2'-5'-oligoadenylate synthetase 3 (100 kD)"			9790745	Standard	NM_006187		Approved		uc001tug.3	Q9Y6K5	OTTHUMG00000169795	ENST00000228928.7:c.3137G>A	12.37:g.113407445G>A	ENSP00000228928:p.Gly1046Asp					RP1-71H24.1_ENST00000552784.1_RNA	p.G1046D	NM_006187.2	NP_006178.2	Q9Y6K5	OAS3_HUMAN			15	3316	+			1046			OAS domain 3.		Q2HJ14|Q9H3P5	Missense_Mutation	SNP	ENST00000228928.7	37	c.3137G>A	CCDS44981.1	.	.	.	.	.	.	.	.	.	.	G	15.32	2.799463	0.50208	.	.	ENSG00000111331	ENST00000228928;ENST00000323881;ENST00000549918	T	0.43294	0.95	3.77	2.87	0.33458	-oligoadenylate synthetase 1, domain 2/C-terminal (2);-5&apos (2);2&apos (2);	0.000000	0.34555	U	0.003870	T	0.58595	0.2133	M	0.74467	2.265	0.09310	N	1	D	0.89917	1.0	D	0.97110	1.0	T	0.47959	-0.9076	10	0.87932	D	0	.	6.6204	0.22800	0.1325:0.0:0.8675:0.0	.	1046	Q9Y6K5	OAS3_HUMAN	D	1046;1045;25	ENSP00000228928:G1046D	ENSP00000228928:G1046D	G	+	2	0	OAS3	111891828	1.000000	0.71417	0.173000	0.22940	0.880000	0.50808	2.545000	0.45769	0.801000	0.34066	0.557000	0.71058	GGC		0.607	OAS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405920.1			5	8	0	0	0	1	0	5	8					A	113407445	G	A	113407445	3	1	435	1	0	0	0	0	1	0	0	0	10801	1203	42	3	3195	3	OAS3	12	113407445	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	18699	113407445	20444450	5901	26826											
DTX1	1840	broad.mit.edu	37	chr12	113496245	113496245	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagtccatgcaccagtttcGccaggacacaggtgagcaga	11	6	12	12	1	0	2	0	1	0	1	2	3	1	3	3	2	2	4	3	2	0	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:113496245G>A	ENST00000257600.3	+	1	751	c.248G>A	c.(247-249)cGc>cAc	p.R83H		NM_004416.2	NP_004407.2	Q86Y01	DTX1_HUMAN	deltex 1, E3 ubiquitin ligase	83	WWE 1. {ECO:0000255|PROSITE- ProRule:PRU00248}.				cell surface receptor signaling pathway (GO:0007166)|glial cell differentiation (GO:0010001)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of T cell differentiation (GO:0045581)|Notch signaling pathway (GO:0007219)|protein ubiquitination (GO:0016567)|regulation of Notch signaling pathway (GO:0008593)|regulation of RNA biosynthetic process (GO:2001141)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ligase activity (GO:0016874)|Notch binding (GO:0005112)|transcription coactivator activity (GO:0003713)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	32						CACCAGTTTCGCCAGGACACA	0.612																																						ENST00000257600.3																			0				central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	32						c.(247-249)cGc>cAc		deltex homolog 1 (Drosophila)							104	97	99					12																	113496245		2203	4300	6503	SO:0001583	missense	1840				negative regulation of neuron differentiation|Notch signaling pathway|regulation of Notch signaling pathway|transcription from RNA polymerase II promoter	cytoplasm|nucleus	Notch binding|SH3 domain binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding	g.chr12:113496245G>A	AF053700	CCDS9164.1	12q24	2014-01-28	2014-01-28			ENSG00000135144			3060	protein-coding gene	gene with protein product		602582	"deltex homolog 1 (Drosophila)"			9590294, 12670957	Standard	NM_004416		Approved	hDx-1	uc001tuk.1	Q86Y01	OTTHUMG00000169610	ENST00000257600.3:c.248G>A	12.37:g.113496245G>A	ENSP00000257600:p.Arg83His						p.R83H	NM_004416.2	NP_004407.2	Q86Y01	DTX1_HUMAN			1	751	+			83			WWE 1.		O60630|Q9BS04	Missense_Mutation	SNP	ENST00000257600.3	37	c.248G>A	CCDS9164.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.216560	0.79352	.	.	ENSG00000135144	ENST00000257600	T	0.49720	0.77	3.98	3.98	0.46160	WWE domain (2);WWE domain, subgroup (1);	0.000000	0.64402	D	0.000001	T	0.70263	0.3204	M	0.83953	2.67	0.53688	D	0.999979	D	0.89917	1.0	D	0.85130	0.997	T	0.76626	-0.2890	10	0.72032	D	0.01	-15.1433	15.0523	0.71885	0.0:0.0:1.0:0.0	.	83	Q86Y01	DTX1_HUMAN	H	83	ENSP00000257600:R83H	ENSP00000257600:R83H	R	+	2	0	DTX1	111980628	1.000000	0.71417	0.997000	0.53966	0.970000	0.65996	8.899000	0.92544	2.067000	0.61834	0.555000	0.69702	CGC		0.612	DTX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405045.2			26	47	0	0	0	1	0	26	47					A	113496245	G	A	113496245	3	1	435	1	0	0	0	0	1	0	0	0	4793	1087	38	1	250	1	DTX1	12	113496245	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	88800	113496245	20355650	5902	26827											
DTX1	1840	broad.mit.edu	37	chr12	113496256	113496256	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	accagtttcgccaggacacaGgtgagcagacacccacccca	12	4	9	16	1	0	2	0	1	0	1	1	3	0	3	5	2	1	2	5	2	0	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:113496256G>T	ENST00000257600.3	+	1	762	c.259G>T	c.(259-261)Ggc>Tgc	p.G87C		NM_004416.2	NP_004407.2	Q86Y01	DTX1_HUMAN	deltex 1, E3 ubiquitin ligase	87	WWE 1. {ECO:0000255|PROSITE- ProRule:PRU00248}.				cell surface receptor signaling pathway (GO:0007166)|glial cell differentiation (GO:0010001)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of T cell differentiation (GO:0045581)|Notch signaling pathway (GO:0007219)|protein ubiquitination (GO:0016567)|regulation of Notch signaling pathway (GO:0008593)|regulation of RNA biosynthetic process (GO:2001141)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ligase activity (GO:0016874)|Notch binding (GO:0005112)|transcription coactivator activity (GO:0003713)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	32						CCAGGACACAGGTGAGCAGAC	0.612																																						ENST00000257600.3																			0				central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	32						c.e1+1		deltex homolog 1 (Drosophila)							89	84	86					12																	113496256		2203	4300	6503	SO:0001630	splice_region_variant	1840				negative regulation of neuron differentiation|Notch signaling pathway|regulation of Notch signaling pathway|transcription from RNA polymerase II promoter	cytoplasm|nucleus	Notch binding|SH3 domain binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding	g.chr12:113496256G>T	AF053700	CCDS9164.1	12q24	2014-01-28	2014-01-28			ENSG00000135144			3060	protein-coding gene	gene with protein product		602582	"deltex homolog 1 (Drosophila)"			9590294, 12670957	Standard	NM_004416		Approved	hDx-1	uc001tuk.1	Q86Y01	OTTHUMG00000169610	ENST00000257600.3:c.259+1G>T	12.37:g.113496256G>T							p.G87_splice	NM_004416.2	NP_004407.2	Q86Y01	DTX1_HUMAN			1	762	+			87			WWE 1.		O60630|Q9BS04	Splice_Site	SNP	ENST00000257600.3	37	c.259_splice	CCDS9164.1	.	.	.	.	.	.	.	.	.	.	G	25.9	4.687422	0.88639	.	.	ENSG00000135144	ENST00000257600	T	0.52983	0.64	3.98	3.98	0.46160	WWE domain (2);WWE domain, subgroup (1);	0.077563	0.51477	U	0.000087	T	0.71904	0.3395	M	0.87381	2.88	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.79001	-0.1981	10	0.87932	D	0	4.0352	15.0523	0.71885	0.0:0.0:1.0:0.0	.	87	Q86Y01	DTX1_HUMAN	C	87	ENSP00000257600:G87C	ENSP00000257600:G87C	G	+	1	0	DTX1	111980639	1.000000	0.71417	1.000000	0.80357	0.928000	0.56348	8.899000	0.92544	2.067000	0.61834	0.555000	0.69702	GGC		0.612	DTX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405045.2		Missense_Mutation	17	43	1	0	8.28177e-16	1	9.07663e-16	17	43					T	113496256	G	T	113496256	5	4	435	1	0	0	0	0	0	0	1	0	4793	1014	35	5	261	5	DTX1	12	113496256	Splice_Site	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	11	113496256	20355639	5903	26828											
RASAL1	8437	broad.mit.edu	37	chr12	113565671	113565671	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cgagatcttgccgatgatgtCgtcgtgcctgcaggaaggcg	7	9	15	10	5	1	2	0	1	1	1	3	5	1	3	2	2	3	1	2	2	1	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:113565671C>T	ENST00000261729.5	-	5	559	c.244G>A	c.(244-246)Gac>Aac	p.D82N	RASAL1_ENST00000546530.1_Missense_Mutation_p.D82N|RASAL1_ENST00000418411.2_5'UTR|RASAL1_ENST00000548055.1_Missense_Mutation_p.D82N|RASAL1_ENST00000446861.3_Missense_Mutation_p.D82N			O95294	RASL1_HUMAN	RAS protein activator like 1 (GAP1 like)	82	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.				intracellular signal transduction (GO:0035556)|negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	metal ion binding (GO:0046872)|phospholipid binding (GO:0005543)|Ras GTPase activator activity (GO:0005099)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(3)|prostate(2)|skin(2)	43						CCGATGATGTCGTCGTGCCTG	0.672																																						ENST00000546530.1																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(3)|prostate(2)|skin(2)	43						c.(244-246)Gac>Aac		RAS protein activator like 1 (GAP1 like)							68	62	64					12																	113565671		2203	4300	6503	SO:0001583	missense	8437				intracellular signal transduction|negative regulation of Ras protein signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	metal ion binding|phospholipid binding|Ras GTPase activator activity	g.chr12:113565671C>T	AF086713	CCDS9165.1, CCDS55888.1, CCDS55889.1, CCDS73529.1	12q23-q24	2013-01-10			ENSG00000111344	ENSG00000111344		"Pleckstrin homology (PH) domain containing"	9873	protein-coding gene	gene with protein product		604118				9751798	Standard	NM_001193520		Approved	RASAL	uc001tul.3	O95294	OTTHUMG00000169705	ENST00000261729.5:c.244G>A	12.37:g.113565671C>T	ENSP00000261729:p.Asp82Asn					RASAL1_ENST00000548055.1_Missense_Mutation_p.D82N|RASAL1_ENST00000446861.3_Missense_Mutation_p.D82N|RASAL1_ENST00000418411.2_5'UTR|RASAL1_ENST00000261729.5_Missense_Mutation_p.D82N	p.D82N	NM_001193520.1|NM_004658.2	NP_001180449.1|NP_004649.2	O95294	RASL1_HUMAN			5	529	-			82			C2 1.		B7ZKM4|C9JFK5|F8VQX1|Q52M03|Q59H24|Q96CC7	Missense_Mutation	SNP	ENST00000261729.5	37	c.244G>A	CCDS9165.1	.	.	.	.	.	.	.	.	.	.	C	20.5	4.002789	0.74932	.	.	ENSG00000111344	ENST00000546530;ENST00000261729;ENST00000446861;ENST00000548055	T;T;T;T	0.71817	-0.6;-0.6;-0.6;-0.6	4.83	4.83	0.62350	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	D	0.88093	0.6344	H	0.95745	3.715	0.41077	D	0.98549	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.87578	0.994;0.985;0.989;0.994;0.996;0.998;0.989	D	0.89608	0.3839	10	0.36615	T	0.2	.	15.4596	0.75342	0.0:1.0:0.0:0.0	.	82;82;82;94;82;82;82	B7ZKM4;B4DG06;F8VRH9;Q59H24;F8VQX1;O95294;O95294-2	.;.;.;.;.;RASL1_HUMAN;.	N	82	ENSP00000450244:D82N;ENSP00000261729:D82N;ENSP00000395920:D82N;ENSP00000448510:D82N	ENSP00000261729:D82N	D	-	1	0	RASAL1	112050054	1.000000	0.71417	0.641000	0.29422	0.328000	0.28507	6.204000	0.72143	2.519000	0.84933	0.643000	0.83706	GAC		0.672	RASAL1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000405522.2	NM_004658		27	33	0	0	0	1	0	27	33					T	113565671	C	T	113565671	3	4	435	1	0	0	0	0	1	0	0	0	13063	884	31	2	2242	2	RASAL1	12	113565671	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	69415	113565671	20286224	5904	26829											
C12orf52	84934	broad.mit.edu	37	chr12	113629387	113629387	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggtgggttacactcttcacGccccctgaagcggggacttt	6	10	13	12	2	2	1	1	1	1	0	2	2	2	2	2	4	2	1	2	4	2	3	rs530217771		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:113629387G>A	ENST00000548278.1	+	4	1267	c.575G>A	c.(574-576)cGc>cAc	p.R192H	C12orf52_ENST00000552495.1_Missense_Mutation_p.R216H|C12orf52_ENST00000549621.1_Missense_Mutation_p.R192H|RP11-545P7.4_ENST00000552525.1_RNA	NM_032848.1	NP_116237.1	Q96K30	RITA1_HUMAN		192	Interaction with tubulin.				negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neurogenesis (GO:0022008)|Notch signaling pathway (GO:0007219)|nuclear export (GO:0051168)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	tubulin binding (GO:0015631)			large_intestine(2)|lung(1)|prostate(1)|urinary_tract(1)	5						CACTCTTCACGCCCCCTGAAG	0.612																																						ENST00000548278.1																			0				large_intestine(2)|lung(1)|prostate(1)|urinary_tract(1)	5						c.(574-576)cGc>cAc		chromosome 12 open reading frame 52							57	56	56					12																	113629387		2203	4300	6503	SO:0001583	missense	84934				negative regulation of Notch signaling pathway|negative regulation of transcription from RNA polymerase II promoter|neurogenesis|Notch signaling pathway|nuclear export	centrosome|nucleus	tubulin binding	g.chr12:113629387G>A																												ENST00000548278.1:c.575G>A	12.37:g.113629387G>A	ENSP00000449841:p.Arg192His					C12orf52_ENST00000552495.1_Missense_Mutation_p.R216H|RP11-545P7.4_ENST00000552525.1_RNA|C12orf52_ENST00000549621.1_Missense_Mutation_p.R192H	p.R192H	NM_032848.1	NP_116237.1	Q96K30	RITA_HUMAN			4	1267	+			192			Interaction with tubulin.		B3KVZ4|C9JIN1|F8VRG5|Q53GM3|Q96K25	Missense_Mutation	SNP	ENST00000548278.1	37	c.575G>A	CCDS9166.1	.	.	.	.	.	.	.	.	.	.	G	8.142	0.785510	0.16189	.	.	ENSG00000139405	ENST00000549621;ENST00000548278;ENST00000552495;ENST00000436053;ENST00000266813	T;T;T	0.32023	1.48;1.48;1.47	4.59	-3.0	0.05480	.	1.409700	0.04786	N	0.430640	T	0.15262	0.0368	N	0.05510	-0.035	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.30149	-0.9988	10	0.15499	T	0.54	-0.286	10.2898	0.43588	0.6528:0.0:0.3472:0.0	.	216;192	F8VRG5;Q96K30	.;RITA_HUMAN	H	192;192;216;192;189	ENSP00000448289:R192H;ENSP00000449841:R192H;ENSP00000448680:R216H	ENSP00000266813:R189H	R	+	2	0	C12orf52	112113770	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.722000	0.00810	-1.001000	0.03434	-1.686000	0.00732	CGC		0.612	C12orf52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405239.1			14	12	0	0	0	1	0	14	12					A	113629387	G	A	113629387	3	1	435	1	0	0	0	0	1	0	0	0	1697	1087	38	1	581	1	C12orf52	12	113629387	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	63716	113629387	20222508	5905	26830											
TPCN1	53373	broad.mit.edu	37	chr12	113664740	113664740	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cccactggctccctccaacgGcctgggccaagaagagctac	9	5	10	17	1	0	2	0	0	0	2	2	2	2	2	5	3	3	2	5	3	4	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:113664740G>A	ENST00000335509.6	+	2	397	c.83G>A	c.(82-84)gGc>gAc	p.G28D	TPCN1_ENST00000541517.1_Missense_Mutation_p.G100D|TPCN1_ENST00000550785.1_Missense_Mutation_p.G100D	NM_017901.4	NP_060371.2	Q9ULQ1	TPC1_HUMAN	two pore segment channel 1	28					calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|membrane depolarization during action potential (GO:0086010)|transmembrane transport (GO:0055085)	endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)|NAADP-sensitive calcium-release channel activity (GO:0072345)|voltage-gated calcium channel activity (GO:0005245)			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(1)	40						CCCTCCAACGGCCTGGGCCAA	0.577																																						ENST00000550785.1																			0				cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(1)	40						c.(298-300)gGc>gAc		two pore segment channel 1							52	47	48					12																	113664740		2203	4300	6503	SO:0001583	missense	53373					endosome membrane|integral to membrane|lysosomal membrane	NAADP-sensitive calcium-release channel activity|voltage-gated ion channel activity	g.chr12:113664740G>A	AB032995	CCDS31908.1, CCDS44985.1	12q24.21	2011-07-05			ENSG00000186815	ENSG00000186815		"Voltage-gated ion channels / Two-pore channels"	18182	protein-coding gene	gene with protein product		609666				10574461, 10753632, 16382101	Standard	XM_005253905		Approved	KIAA1169, FLJ20612, TPC1	uc001tux.3	Q9ULQ1	OTTHUMG00000169625	ENST00000335509.6:c.83G>A	12.37:g.113664740G>A	ENSP00000335300:p.Gly28Asp					TPCN1_ENST00000541517.1_Missense_Mutation_p.G100D|TPCN1_ENST00000335509.6_Missense_Mutation_p.G28D	p.G100D	NM_001143819.1	NP_001137291.1	Q9ULQ1	TPC1_HUMAN			3	468	+			28					A7E258|Q86XS9|Q8NC20	Missense_Mutation	SNP	ENST00000335509.6	37	c.299G>A	CCDS31908.1	.	.	.	.	.	.	.	.	.	.	G	11.22	1.574645	0.28092	.	.	ENSG00000186815	ENST00000547275;ENST00000552985;ENST00000550873;ENST00000551096;ENST00000551099;ENST00000335509;ENST00000550785;ENST00000549279;ENST00000541517	T;T;T;T;T;T;T	0.44083	0.93;0.93;0.93;0.93;0.93;0.93;0.93	4.88	2.99	0.34606	.	1.392310	0.04179	N	0.326187	T	0.37598	0.1009	L	0.51422	1.61	0.32218	N	0.575612	B;B	0.19200	0.034;0.008	B;B	0.22601	0.04;0.011	T	0.38023	-0.9680	10	0.13108	T	0.6	-0.0035	6.8591	0.24058	0.0967:0.1775:0.7258:0.0	.	100;28	Q9ULQ1-3;Q9ULQ1	.;TPC1_HUMAN	D	83;114;28;100;28;28;100;28;100	ENSP00000449560:G83D;ENSP00000447569:G114D;ENSP00000447073:G28D;ENSP00000447263:G100D;ENSP00000335300:G28D;ENSP00000448083:G100D;ENSP00000438125:G100D	ENSP00000335300:G28D	G	+	2	0	TPCN1	112149123	0.786000	0.28738	0.851000	0.33527	0.674000	0.39518	1.084000	0.30828	1.260000	0.44134	0.462000	0.41574	GGC		0.577	TPCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405156.3	NM_017901		10	15	0	0	0	1	0	10	15					A	113664740	G	A	113664740	3	1	435	1	0	0	0	0	1	0	0	0	16392	1203	42	3	305	3	TPCN1	12	113664740	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	35353	113664740	20187155	5906	26831											
SDS	10993	broad.mit.edu	37	chr12	113830893	113830893	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agttggagcttctggatcacGtggctatagacagcggccag	9	9	14	9	2	2	1	1	0	1	1	2	3	2	3	1	4	2	3	1	4	2	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:113830893G>A	ENST00000257549.4	-	8	962	c.840C>T	c.(838-840)caC>caT	p.H280H		NM_006843.2	NP_006834.2	P20132	SDHL_HUMAN	serine dehydratase	280					gluconeogenesis (GO:0006094)|L-serine catabolic process (GO:0006565)|pyruvate biosynthetic process (GO:0042866)|response to amino acid (GO:0043200)|response to cobalamin (GO:0033590)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	L-serine ammonia-lyase activity (GO:0003941)|L-threonine ammonia-lyase activity (GO:0004794)|protein homodimerization activity (GO:0042803)|pyridoxal phosphate binding (GO:0030170)			large_intestine(2)|lung(6)|pancreas(1)|prostate(1)|urinary_tract(1)	11					L-Serine(DB00133)	TCTGGATCACGTGGCTATAGA	0.647																																						ENST00000257549.4																			0				large_intestine(2)|lung(6)|pancreas(1)|prostate(1)|urinary_tract(1)	11						c.(838-840)caC>caT		serine dehydratase	L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)						85	85	85					12																	113830893		2203	4300	6503	SO:0001819	synonymous_variant	10993				gluconeogenesis|L-serine catabolic process|pyruvate biosynthetic process	cytoplasm	L-serine ammonia-lyase activity|L-threonine ammonia-lyase activity|protein homodimerization activity|pyridoxal phosphate binding	g.chr12:113830893G>A	J05037	CCDS9169.1	12q24.13	2014-06-24			ENSG00000135094	ENSG00000135094	4.3.1.17		10691	protein-coding gene	gene with protein product	"L-serine ammonia-lyase"	182128				2674117	Standard	NM_006843		Approved	SDH	uc001tvg.3	P20132	OTTHUMG00000169554	ENST00000257549.4:c.840C>T	12.37:g.113830893G>A							p.H280H	NM_006843.2	NP_006834.2	P20132	SDHL_HUMAN			8	962	-			280					A8K9P5	Silent	SNP	ENST00000257549.4	37	c.840C>T	CCDS9169.1																																																																																				0.647	SDS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404790.1	NM_006843		34	41	0	0	0	1	0	34	41					A	113830893	G	A	113830893	2	1	435	1	0	0	0	0	0	0	0	1	13975	1136	40	1		1	SDS	12	113830893	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	166153	113830893	20021002	5907	26832											
SDS	10993	broad.mit.edu	37	chr12	113836583	113836583	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gagagcaggtgtggtgctggGcaccacgatggtggcgggga	7	6	21	7	2	0	1	0	0	0	1	0	4	0	2	1	7	2	3	1	7	0	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:113836583G>A	ENST00000257549.4	-	4	384	c.262C>T	c.(262-264)Ccc>Tcc	p.P88S		NM_006843.2	NP_006834.2	P20132	SDHL_HUMAN	serine dehydratase	88					gluconeogenesis (GO:0006094)|L-serine catabolic process (GO:0006565)|pyruvate biosynthetic process (GO:0042866)|response to amino acid (GO:0043200)|response to cobalamin (GO:0033590)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	L-serine ammonia-lyase activity (GO:0003941)|L-threonine ammonia-lyase activity (GO:0004794)|protein homodimerization activity (GO:0042803)|pyridoxal phosphate binding (GO:0030170)			large_intestine(2)|lung(6)|pancreas(1)|prostate(1)|urinary_tract(1)	11					L-Serine(DB00133)	GTGGTGCTGGGCACCACGATG	0.647																																						ENST00000257549.4																			0				large_intestine(2)|lung(6)|pancreas(1)|prostate(1)|urinary_tract(1)	11						c.(262-264)Ccc>Tcc		serine dehydratase	L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)						44	40	42					12																	113836583		2203	4300	6503	SO:0001583	missense	10993				gluconeogenesis|L-serine catabolic process|pyruvate biosynthetic process	cytoplasm	L-serine ammonia-lyase activity|L-threonine ammonia-lyase activity|protein homodimerization activity|pyridoxal phosphate binding	g.chr12:113836583G>A	J05037	CCDS9169.1	12q24.13	2014-06-24			ENSG00000135094	ENSG00000135094	4.3.1.17		10691	protein-coding gene	gene with protein product	"L-serine ammonia-lyase"	182128				2674117	Standard	NM_006843		Approved	SDH	uc001tvg.3	P20132	OTTHUMG00000169554	ENST00000257549.4:c.262C>T	12.37:g.113836583G>A	ENSP00000257549:p.Pro88Ser						p.P88S	NM_006843.2	NP_006834.2	P20132	SDHL_HUMAN			4	384	-			88					A8K9P5	Missense_Mutation	SNP	ENST00000257549.4	37	c.262C>T	CCDS9169.1	.	.	.	.	.	.	.	.	.	.	G	16.26	3.073737	0.55646	.	.	ENSG00000135094;ENSG00000135094;ENSG00000257606	ENST00000257549;ENST00000446302;ENST00000547342	D;D	0.98249	-4.82;-4.82	4.0	4.0	0.46444	Pyridoxal phosphate-dependent enzyme, beta subunit (2);	0.000000	0.85682	D	0.000000	D	0.99171	0.9713	M	0.93638	3.44	0.43517	D	0.995788	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.99044	1.0825	10	0.87932	D	0	-17.2163	15.8794	0.79193	0.0:0.0:1.0:0.0	.	88;88	Q8WW81;P20132	.;SDHL_HUMAN	S	88;88;182	ENSP00000257549:P88S;ENSP00000449061:P182S	ENSP00000449061:P182S	P	-	1	0	SDS;RP11-303O9.2	112320966	1.000000	0.71417	0.914000	0.36105	0.294000	0.27393	8.776000	0.91776	2.066000	0.61787	0.561000	0.74099	CCC		0.647	SDS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404790.1	NM_006843		15	13	0	0	0	1	0	15	13					A	113836583	G	A	113836583	3	1	435	1	0	0	0	0	1	0	0	0	13975	1203	42	3	744	3	SDS	12	113836583	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	5690	113836583	20015312	5908	26833											
RBM19	9904	broad.mit.edu	37	chr12	114397934	114397934	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttggtttctgggcatgtttgCtccaggctctgggtttggcc	2	16	14	9	0	2	0	0	0	2	0	3	0	3	0	2	5	1	6	2	5	0	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:114397934C>T	ENST00000545145.2	-	3	347	c.269G>A	c.(268-270)aGc>aAc	p.S90N	RBM19_ENST00000261741.5_Missense_Mutation_p.S90N|RBM19_ENST00000392561.3_Missense_Mutation_p.S90N	NM_001146699.1	NP_001140171.1	Q9Y4C8	RBM19_HUMAN	RNA binding motif protein 19	90					multicellular organismal development (GO:0007275)|positive regulation of embryonic development (GO:0040019)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(4)	55	Medulloblastoma(191;0.163)|all_neural(191;0.178)					GGCATGTTTGCTCCAGGCTCT	0.527																																						ENST00000545145.2																			0				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(4)	55						c.(268-270)aGc>aAc		RNA binding motif protein 19							101	101	101					12																	114397934		2203	4300	6503	SO:0001583	missense	9904				multicellular organismal development|positive regulation of embryonic development	chromosome|cytoplasm|nucleolus|nucleoplasm	nucleotide binding|RNA binding	g.chr12:114397934C>T	AL117547	CCDS9172.1	12q24.21	2013-02-12				ENSG00000122965		"RNA binding motif (RRM) containing"	29098	protein-coding gene	gene with protein product						9734811, 11230166	Standard	NM_016196		Approved	DKFZp586F1023, KIAA0682	uc009zwi.2	Q9Y4C8	OTTHUMG00000169646	ENST00000545145.2:c.269G>A	12.37:g.114397934C>T	ENSP00000442053:p.Ser90Asn					RBM19_ENST00000392561.3_Missense_Mutation_p.S90N|RBM19_ENST00000261741.5_Missense_Mutation_p.S90N	p.S90N	NM_001146699.1	NP_001140171.1	Q9Y4C8	RBM19_HUMAN			3	347	-	Medulloblastoma(191;0.163)|all_neural(191;0.178)		90					A8K5X9|Q9BPY6|Q9UFN5	Missense_Mutation	SNP	ENST00000545145.2	37	c.269G>A	CCDS9172.1	.	.	.	.	.	.	.	.	.	.	C	28.3	4.912354	0.92178	.	.	ENSG00000122965	ENST00000545145;ENST00000392561;ENST00000261741	T;T;T	0.08984	3.03;3.03;3.03	4.86	4.86	0.63082	Nucleotide-binding, alpha-beta plait (1);	0.000000	0.85682	D	0.000000	T	0.34832	0.0911	M	0.85859	2.78	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.27157	-1.0082	10	0.72032	D	0.01	-29.566	18.1761	0.89761	0.0:1.0:0.0:0.0	.	90	Q9Y4C8	RBM19_HUMAN	N	90	ENSP00000442053:S90N;ENSP00000376344:S90N;ENSP00000261741:S90N	ENSP00000261741:S90N	S	-	2	0	RBM19	112882317	1.000000	0.71417	1.000000	0.80357	0.928000	0.56348	7.207000	0.77899	2.513000	0.84729	0.557000	0.71058	AGC		0.527	RBM19-003	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405251.1	NM_016196		18	21	0	0	0	1	0	18	21					T	114397934	C	T	114397934	3	4	435	1	0	0	0	0	1	0	0	0	13121	797	28	3	2701	3	RBM19	12	114397934	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	561351	114397934	19453961	5909	26834											
TBX3	6926	broad.mit.edu	37	chr12	115114268	115114268	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cctcatggactgcagggtgaGctgttttctgtggcagaagc	7	11	14	9	0	2	2	1	1	1	1	2	3	2	3	1	3	3	4	1	3	1	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:115114268G>T	ENST00000257566.3	-	6	1338	c.949C>A	c.(949-951)Ctc>Atc	p.L317I	TBX3_ENST00000349155.2_Missense_Mutation_p.L297I	NM_016569.3	NP_057653.3	O15119	TBX3_HUMAN	T-box 3	317					anterior/posterior axis specification, embryo (GO:0008595)|atrioventricular bundle cell differentiation (GO:0003167)|blood vessel development (GO:0001568)|branching involved in mammary gland duct morphogenesis (GO:0060444)|cardiac muscle cell fate commitment (GO:0060923)|cell aging (GO:0007569)|cellular senescence (GO:0090398)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|female genitalia development (GO:0030540)|follicle-stimulating hormone secretion (GO:0046884)|forelimb morphogenesis (GO:0035136)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|limbic system development (GO:0021761)|luteinizing hormone secretion (GO:0032275)|male genitalia development (GO:0030539)|mammary gland development (GO:0030879)|mammary placode formation (GO:0060596)|mesoderm morphogenesis (GO:0048332)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epithelial cell differentiation (GO:0030857)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|organ morphogenesis (GO:0009887)|outflow tract morphogenesis (GO:0003151)|palate development (GO:0060021)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell proliferation (GO:0008284)|positive regulation of stem cell proliferation (GO:2000648)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|sinoatrial node cell development (GO:0060931)|skeletal system development (GO:0001501)|specification of organ position (GO:0010159)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)|ventricular septum morphogenesis (GO:0060412)	nucleus (GO:0005634)	RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(5)|endometrium(1)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0574)		TGCAGGGTGAGCTGTTTTCTG	0.483																																						ENST00000349155.2																			0				breast(5)|endometrium(1)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						c.(889-891)Ctc>Atc		T-box 3							112	103	106					12																	115114268		2203	4300	6503	SO:0001583	missense	6926				anterior/posterior axis specification, embryo|anti-apoptosis|cell aging|embryonic arm morphogenesis|embryonic digit morphogenesis|female genitalia development|follicle-stimulating hormone secretion|luteinizing hormone secretion|male genitalia development|mesoderm morphogenesis|negative regulation of myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle|positive regulation of cell proliferation|regulation of transcription from RNA polymerase II promoter|skeletal system development	nucleus	sequence-specific DNA binding	g.chr12:115114268G>T	BC025258	CCDS9175.1, CCDS9176.1	12q24.21	2013-09-05	2008-07-31		ENSG00000135111	ENSG00000135111		"T-boxes"	11602	protein-coding gene	gene with protein product		601621	"ulnar mammary syndrome"	UMS		8988164	Standard	NM_005996		Approved	TBX3-ISO, XHL	uc001tvt.1	O15119	OTTHUMG00000169586	ENST00000257566.3:c.949C>A	12.37:g.115114268G>T	ENSP00000257566:p.Leu317Ile					TBX3_ENST00000257566.3_Missense_Mutation_p.L317I	p.L297I	NM_005996.3	NP_005987.3	O15119	TBX3_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.0574)	5	1852	-	Medulloblastoma(191;0.163)|all_neural(191;0.178)		317					Q8TB20|Q9UKF8	Missense_Mutation	SNP	ENST00000257566.3	37	c.889C>A	CCDS9176.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.139386	0.77775	.	.	ENSG00000135111	ENST00000349155;ENST00000257566;ENST00000361100	D;D	0.89617	-2.51;-2.54	5.11	4.21	0.49690	.	0.174916	0.24206	U	0.040579	D	0.90758	0.7099	L	0.43152	1.355	0.58432	D	0.999998	D;D	0.69078	0.959;0.997	P;D	0.72625	0.835;0.978	D	0.88930	0.3372	10	0.34782	T	0.22	.	12.0739	0.53632	0.0832:0.0:0.9168:0.0	.	297;317	O15119-2;O15119	.;TBX3_HUMAN	I	297;317;317	ENSP00000257567:L297I;ENSP00000257566:L317I	ENSP00000257566:L317I	L	-	1	0	TBX3	113598651	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.082000	0.64450	2.363000	0.80096	0.655000	0.94253	CTC		0.483	TBX3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000404947.2	NM_016569, NM_005996		4	56	1	0	2.56e-06	1	2.66106e-06	4	56					T	115114268	G	T	115114268	3	4	435	1	0	0	0	0	1	0	0	0	15656	971	34	5	1294	5	TBX3	12	115114268	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	716334	115114268	18737627	5910	26835											
MED13L	23389	broad.mit.edu	37	chr12	116404036	116404036	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgcttctctagaaagaagacGctcaccctggctctgaaaaa	13	9	8	11	1	3	4	1	1	2	3	4	4	3	4	1	1	1	3	1	1	5	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:116404036G>A	ENST00000281928.3	-	29	6444	c.6238C>T	c.(6238-6240)Cgt>Tgt	p.R2080C		NM_015335.4	NP_056150.1	Q71F56	MD13L_HUMAN	mediator complex subunit 13-like	2080						mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)			NS(2)|breast(1)|endometrium(9)|kidney(3)|large_intestine(18)|lung(34)|ovary(4)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	85	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0407)		GAAAGAAGACGCTCACCCTGG	0.443																																						ENST00000281928.3																			0				NS(2)|breast(1)|endometrium(9)|kidney(3)|large_intestine(18)|lung(34)|ovary(4)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	85						c.(6238-6240)Cgt>Tgt		mediator complex subunit 13-like							69	71	71					12																	116404036		2203	4300	6503	SO:0001583	missense	23389				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent			g.chr12:116404036G>A	AB028948	CCDS9177.1	12q24.22	2010-07-29	2007-07-30	2007-07-30	ENSG00000123066	ENSG00000123066			22962	protein-coding gene	gene with protein product		608771	"thyroid hormone receptor associated protein 2"	THRAP2			Standard	NM_015335		Approved	KIAA1025, TRAP240L	uc001tvw.3	Q71F56	OTTHUMG00000169404	ENST00000281928.3:c.6238C>T	12.37:g.116404036G>A	ENSP00000281928:p.Arg2080Cys						p.R2080C	NM_015335.4	NP_056150.1	Q71F56	MD13L_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.0407)	29	6444	-	all_neural(191;0.117)|Medulloblastoma(191;0.163)		2080					A1L469|Q68DN4|Q9H8C0|Q9NSY9|Q9UFD8|Q9UPX5	Missense_Mutation	SNP	ENST00000281928.3	37	c.6238C>T	CCDS9177.1	.	.	.	.	.	.	.	.	.	.	G	24.4	4.525032	0.85600	.	.	ENSG00000123066	ENST00000281928	D	0.83335	-1.71	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	D	0.90943	0.7153	M	0.77820	2.39	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.90758	0.4662	10	0.59425	D	0.04	.	15.581	0.76439	0.0:0.0:0.8623:0.1377	.	2080	Q71F56	MD13L_HUMAN	C	2080	ENSP00000281928:R2080C	ENSP00000281928:R2080C	R	-	1	0	MED13L	114888419	1.000000	0.71417	1.000000	0.80357	0.926000	0.56050	9.476000	0.97823	2.941000	0.99782	0.655000	0.94253	CGT		0.443	MED13L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403879.3			31	41	0	0	0	1	0	31	41					A	116404036	G	A	116404036	3	1	435	1	0	0	0	0	1	0	0	0	9431	1087	38	1	406	1	MED13L	12	116404036	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	1289768	116404036	17447859	5911	26836											
MED13L	23389	broad.mit.edu	37	chr12	116429262	116429262	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caagtttgcggttcataatcGcactaaacccacaggtacag	13	9	8	11	2	1	0	1	0	0	0	2	0	1	0	1	2	3	4	1	2	5	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:116429262G>A	ENST00000281928.3	-	17	3703	c.3497C>T	c.(3496-3498)gCg>gTg	p.A1166V		NM_015335.4	NP_056150.1	Q71F56	MD13L_HUMAN	mediator complex subunit 13-like	1166						mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)			NS(2)|breast(1)|endometrium(9)|kidney(3)|large_intestine(18)|lung(34)|ovary(4)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	85	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0407)		GTTCATAATCGCACTAAACCC	0.473																																						ENST00000281928.3																			0				NS(2)|breast(1)|endometrium(9)|kidney(3)|large_intestine(18)|lung(34)|ovary(4)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	85						c.(3496-3498)gCg>gTg		mediator complex subunit 13-like							80	73	75					12																	116429262		2203	4300	6503	SO:0001583	missense	23389				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent			g.chr12:116429262G>A	AB028948	CCDS9177.1	12q24.22	2010-07-29	2007-07-30	2007-07-30	ENSG00000123066	ENSG00000123066			22962	protein-coding gene	gene with protein product		608771	"thyroid hormone receptor associated protein 2"	THRAP2			Standard	NM_015335		Approved	KIAA1025, TRAP240L	uc001tvw.3	Q71F56	OTTHUMG00000169404	ENST00000281928.3:c.3497C>T	12.37:g.116429262G>A	ENSP00000281928:p.Ala1166Val						p.A1166V	NM_015335.4	NP_056150.1	Q71F56	MD13L_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.0407)	17	3703	-	all_neural(191;0.117)|Medulloblastoma(191;0.163)		1166					A1L469|Q68DN4|Q9H8C0|Q9NSY9|Q9UFD8|Q9UPX5	Missense_Mutation	SNP	ENST00000281928.3	37	c.3497C>T	CCDS9177.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.304550	0.81136	.	.	ENSG00000123066	ENST00000281928	D	0.85088	-1.94	5.35	5.35	0.76521	.	0.048809	0.85682	D	0.000000	D	0.92087	0.7492	M	0.69523	2.12	0.80722	D	1	D	0.89917	1.0	D	0.78314	0.991	D	0.92424	0.5948	10	0.87932	D	0	.	19.2467	0.93905	0.0:0.0:1.0:0.0	.	1166	Q71F56	MD13L_HUMAN	V	1166	ENSP00000281928:A1166V	ENSP00000281928:A1166V	A	-	2	0	MED13L	114913645	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.263000	0.95617	2.784000	0.95788	0.585000	0.79938	GCG		0.473	MED13L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403879.3			40	56	0	0	0	1	0	40	56					A	116429262	G	A	116429262	3	1	435	1	0	0	0	0	1	0	0	0	9431	1087	38	1	3195	1	MED13L	12	116429262	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	25226	116429262	17422633	5912	26837											
MED13L	23389	broad.mit.edu	37	chr12	116446684	116446684	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctaaggaggagtctatccCtgccaaccctagtttctgtc	8	12	8	13	0	3	0	0	0	3	0	5	2	4	2	3	2	2	1	3	2	4	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:116446684C>A	ENST00000281928.3	-	10	1740	c.1534G>T	c.(1534-1536)Ggg>Tgg	p.G512W		NM_015335.4	NP_056150.1	Q71F56	MD13L_HUMAN	mediator complex subunit 13-like	512						mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)			NS(2)|breast(1)|endometrium(9)|kidney(3)|large_intestine(18)|lung(34)|ovary(4)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	85	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0407)		GAGTCTATCCCTGCCAACCCT	0.453																																						ENST00000281928.3																			0				NS(2)|breast(1)|endometrium(9)|kidney(3)|large_intestine(18)|lung(34)|ovary(4)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	85						c.(1534-1536)Ggg>Tgg		mediator complex subunit 13-like							169	156	160					12																	116446684		2203	4300	6503	SO:0001583	missense	23389				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent			g.chr12:116446684C>A	AB028948	CCDS9177.1	12q24.22	2010-07-29	2007-07-30	2007-07-30	ENSG00000123066	ENSG00000123066			22962	protein-coding gene	gene with protein product		608771	"thyroid hormone receptor associated protein 2"	THRAP2			Standard	NM_015335		Approved	KIAA1025, TRAP240L	uc001tvw.3	Q71F56	OTTHUMG00000169404	ENST00000281928.3:c.1534G>T	12.37:g.116446684C>A	ENSP00000281928:p.Gly512Trp						p.G512W	NM_015335.4	NP_056150.1	Q71F56	MD13L_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.0407)	10	1740	-	all_neural(191;0.117)|Medulloblastoma(191;0.163)		512					A1L469|Q68DN4|Q9H8C0|Q9NSY9|Q9UFD8|Q9UPX5	Missense_Mutation	SNP	ENST00000281928.3	37	c.1534G>T	CCDS9177.1	.	.	.	.	.	.	.	.	.	.	C	15.34	2.806005	0.50421	.	.	ENSG00000123066	ENST00000281928	T	0.75154	-0.91	5.76	5.76	0.90799	.	0.226724	0.46145	D	0.000317	T	0.79034	0.4378	L	0.46157	1.445	0.50313	D	0.999863	D	0.69078	0.997	P	0.58577	0.841	T	0.80271	-0.1452	10	0.72032	D	0.01	.	13.2077	0.59807	0.0:0.9274:0.0:0.0726	.	512	Q71F56	MD13L_HUMAN	W	512	ENSP00000281928:G512W	ENSP00000281928:G512W	G	-	1	0	MED13L	114931067	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.613000	0.61176	2.732000	0.93576	0.655000	0.94253	GGG		0.453	MED13L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403879.3			17	16	1	0	1.15088e-07	1	1.20771e-07	17	16					A	116446684	C	A	116446684	3	1	435	1	0	0	0	0	1	0	0	0	9431	681	24	5	5186	5	MED13L	12	116446684	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	17422	116446684	17405211	5913	26838											
FBXW8	26259	broad.mit.edu	37	chr12	117465865	117465865	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gatccgcgcctatgagtttgCggtggaccagctggccttcc	5	10	13	13	3	0	1	0	1	0	0	2	3	2	2	5	3	2	2	5	3	1	3	rs536148392		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:117465865C>T	ENST00000309909.5	+	11	1767	c.1685C>T	c.(1684-1686)gCg>gTg	p.A562V	FBXW8_ENST00000455858.2_Missense_Mutation_p.A496V			Q8N3Y1	FBXW8_HUMAN	F-box and WD repeat domain containing 8	562					cell proliferation (GO:0008283)|Golgi organization (GO:0007030)|labyrinthine layer blood vessel development (GO:0060716)|positive regulation of dendrite morphogenesis (GO:0050775)|protein ubiquitination (GO:0016567)|spongiotrophoblast layer development (GO:0060712)	Cul7-RING ubiquitin ligase complex (GO:0031467)|Golgi apparatus (GO:0005794)|perinuclear region of cytoplasm (GO:0048471)|SCF ubiquitin ligase complex (GO:0019005)				endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	22	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0353)		TATGAGTTTGCGGTGGACCAG	0.612																																						ENST00000455858.2																			0				endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	22						c.(1486-1488)gCg>gTg		F-box and WD repeat domain containing 8							110	82	91					12																	117465865		2203	4300	6503	SO:0001583	missense	26259						protein binding	g.chr12:117465865C>T	AF176707	CCDS9182.1, CCDS44988.1	12q24.23	2013-01-09	2007-02-08	2003-06-13				"F-boxes / WD-40 domains", "WD repeat domain containing"	13597	protein-coding gene	gene with protein product		609073	"F-box only protein 29", "F-box and WD-40 domain protein 8"	FBXO29		10531035, 10531037	Standard	NM_012174		Approved	FBX29, FBW6, FBW8	uc001twg.1	Q8N3Y1	OTTHUMG00000169329	ENST00000309909.5:c.1685C>T	12.37:g.117465865C>T	ENSP00000310686:p.Ala562Val					FBXW8_ENST00000309909.5_Missense_Mutation_p.A562V	p.A496V	NM_012174.1|NM_153348.2	NP_036306.1|NP_699179.2	Q8N3Y1	FBXW8_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.0353)	11	1560	+	all_neural(191;0.117)|Medulloblastoma(191;0.163)		562					Q9UK95	Missense_Mutation	SNP	ENST00000309909.5	37	c.1487C>T	CCDS9182.1	.	.	.	.	.	.	.	.	.	.	C	19.24	3.789550	0.70337	.	.	ENSG00000174989	ENST00000309909;ENST00000455858;ENST00000505227	T;T	0.08370	3.1;3.11	4.93	4.93	0.64822	.	0.119114	0.64402	D	0.000014	T	0.09468	0.0233	L	0.57536	1.79	0.42356	D	0.992395	P;P	0.45044	0.745;0.849	B;B	0.32928	0.155;0.118	T	0.13926	-1.0491	10	0.44086	T	0.13	-12.9131	15.9314	0.79663	0.0:1.0:0.0:0.0	.	562;496	Q8N3Y1;Q8N3Y1-2	FBXW8_HUMAN;.	V	562;496;496	ENSP00000310686:A562V;ENSP00000389144:A496V	ENSP00000310686:A562V	A	+	2	0	FBXW8	115950248	0.998000	0.40836	0.806000	0.32338	0.661000	0.39034	5.149000	0.64863	2.271000	0.75665	0.591000	0.81541	GCG		0.612	FBXW8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403561.1	NM_012174		14	18	0	0	0	1	0	14	18					T	117465865	C	T	117465865	3	4	435	1	0	0	0	0	1	0	0	0	5770	768	27	1	1727	1	FBXW8	12	117465865	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	1019181	117465865	16386030	5914	26839											
RFC5	5985	broad.mit.edu	37	chr12	118454653	118454653	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atggagacctcagcactcaaGcagcaggagcagcccgcggc	11	3	13	14	2	2	1	2	0	0	1	2	3	2	2	2	3	5	4	2	3	1	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:118454653G>A	ENST00000454402.2	+	1	139	c.21G>A	c.(19-21)aaG>aaA	p.K7K	RFC5_ENST00000392542.2_5'UTR|RFC5_ENST00000229043.3_5'UTR	NM_001206801.1|NM_007370.5	NP_001193730.1|NP_031396.1	P40937	RFC5_HUMAN	replication factor C (activator 1) 5, 36.5kDa	7					DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA strand elongation involved in DNA replication (GO:0006271)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	DNA replication factor C complex (GO:0005663)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)			NS(1)|breast(1)|endometrium(1)|large_intestine(3)|lung(3)	9	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CAGCACTCAAGCAGCAGGAGC	0.701																																						ENST00000454402.2																			0				NS(1)|breast(1)|endometrium(1)|large_intestine(3)|lung(3)	9						c.(19-21)aaG>aaA		replication factor C (activator 1) 5, 36.5kDa							24	25	24					12																	118454653		2195	4298	6493	SO:0001819	synonymous_variant	5985				cell cycle checkpoint|DNA strand elongation involved in DNA replication|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	DNA replication factor C complex|nucleoplasm	ATP binding|DNA clamp loader activity|enzyme binding	g.chr12:118454653G>A		CCDS9185.1, CCDS41843.2	12q24.3	2010-04-21	2002-08-29		ENSG00000111445	ENSG00000111445		"ATPases / AAA-type"	9973	protein-coding gene	gene with protein product		600407	"replication factor C (activator 1) 5 (36.5kD)"			7774928	Standard	NM_007370		Approved	RFC36	uc001twq.3	P40937	OTTHUMG00000156438	ENST00000454402.2:c.21G>A	12.37:g.118454653G>A						RFC5_ENST00000229043.3_5'UTR|RFC5_ENST00000392542.2_5'UTR	p.K7K	NM_001206801.1|NM_007370.5	NP_001193730.1|NP_031396.1	P40937	RFC5_HUMAN			1	139	+	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		7					A8MZ62|B3KSX8	Silent	SNP	ENST00000454402.2	37	c.21G>A	CCDS9185.1																																																																																				0.701	RFC5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344196.2	NM_007370		6	7	0	0	0	1	0	6	7					A	118454653	G	A	118454653	2	1	435	1	0	0	0	0	0	0	0	1	13248	962	34	3		3	RFC5	12	118454653	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	988788	118454653	15397242	5915	26840											
TAOK3	51347	broad.mit.edu	37	chr12	118639201	118639201	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggttatctagctcacgaactGcatcttttgtcctctgtatg	7	16	8	10	1	4	0	1	0	3	0	5	1	5	0	1	1	3	4	1	1	4	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:118639201G>T	ENST00000392533.3	-	12	1377	c.887C>A	c.(886-888)gCa>gAa	p.A296E	TAOK3_ENST00000419821.2_Missense_Mutation_p.A296E	NM_016281.3	NP_057365.3	Q9H2K8	TAOK3_HUMAN	TAO kinase 3	296					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|MAPK cascade (GO:0000165)|mitotic G2 DNA damage checkpoint (GO:0007095)|negative regulation of JNK cascade (GO:0046329)|negative regulation of protein kinase activity (GO:0006469)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein kinase inhibitor activity (GO:0004860)|protein serine/threonine kinase activity (GO:0004674)|transferase activity (GO:0016740)			central_nervous_system(1)|lung(5)|skin(1)	7	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CTCACGAACTGCATCTTTTGT	0.433																																						ENST00000392533.3																			0				central_nervous_system(1)|lung(5)|skin(1)	7						c.(886-888)gCa>gAa		TAO kinase 3							132	118	123					12																	118639201		2203	4300	6503	SO:0001583	missense	51347				MAPKKK cascade|negative regulation of JNK cascade|positive regulation of JNK cascade|protein autophosphorylation	mitochondrion|plasma membrane	ATP binding|protein kinase inhibitor activity|protein serine/threonine kinase activity	g.chr12:118639201G>T	AF135158	CCDS9188.1	12q	2007-08-03				ENSG00000135090			18133	protein-coding gene	gene with protein product						10559204, 10924369	Standard	NM_016281		Approved	JIK, DPK, MAP3K18	uc001twy.4	Q9H2K8		ENST00000392533.3:c.887C>A	12.37:g.118639201G>T	ENSP00000376317:p.Ala296Glu					TAOK3_ENST00000419821.2_Missense_Mutation_p.A296E	p.A296E	NM_016281.3	NP_057365.3	Q9H2K8	TAOK3_HUMAN			12	1377	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		296					Q658N1|Q8IUM4|Q9HC79|Q9NZM9|Q9UHG7	Missense_Mutation	SNP	ENST00000392533.3	37	c.887C>A	CCDS9188.1	.	.	.	.	.	.	.	.	.	.	G	35	5.491436	0.96339	.	.	ENSG00000135090	ENST00000419821;ENST00000392533	D;D	0.85339	-1.97;-1.97	4.79	4.79	0.61399	Protein kinase-like domain (1);	0.000000	0.85682	D	0.000000	D	0.89681	0.6785	M	0.80847	2.515	0.80722	D	1	D	0.54047	0.964	P	0.50405	0.64	D	0.91639	0.5325	10	0.87932	D	0	.	18.0158	0.89239	0.0:0.0:1.0:0.0	.	296	Q9H2K8	TAOK3_HUMAN	E	296	ENSP00000416374:A296E;ENSP00000376317:A296E	ENSP00000376317:A296E	A	-	2	0	TAOK3	117123584	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.564000	0.98151	2.489000	0.83994	0.591000	0.81541	GCA		0.433	TAOK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401456.2	NM_016281		37	31	1	0	6.90743e-12	1	7.45315e-12	37	31					T	118639201	G	T	118639201	3	4	435	1	0	0	0	0	1	0	0	0	15546	1319	46	5	1849	5	TAOK3	12	118639201	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	184548	118639201	15212694	5916	26841											
HSPB8	26353	broad.mit.edu	37	chr12	119617249	119617249	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gaccccttcccagacgacttGacagcctcttggcccgactg	7	8	9	17	2	1	2	0	1	1	1	2	5	2	2	5	1	1	0	5	1	0	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:119617249G>A	ENST00000281938.2	+	1	803	c.132G>A	c.(130-132)ttG>ttA	p.L44L	RP11-64B16.4_ENST00000535921.1_RNA|RP11-64B16.3_ENST00000538405.1_RNA	NM_014365.2	NP_055180.1	Q9UJY1	HSPB8_HUMAN	heat shock 22kDa protein 8	44					cell death (GO:0008219)|response to stress (GO:0006950)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634)	identical protein binding (GO:0042802)			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(9)|skin(1)	14	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CAGACGACTTGACAGCCTCTT	0.682																																						ENST00000281938.2																			0				central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(9)|skin(1)	14						c.(130-132)ttG>ttA		heat shock 22kDa protein 8							103	114	110					12																	119617249		2203	4300	6503	SO:0001819	synonymous_variant	26353				cell death|response to heat	cytoplasm|nucleus	identical protein binding|protein serine/threonine kinase activity	g.chr12:119617249G>A	AF191017	CCDS9189.1	12q24.23	2014-09-17	2004-04-23					"Heat shock proteins / HSPB"	30171	protein-coding gene	gene with protein product		608014	"heat shock 27kDa protein 8"			10833516, 11085516	Standard	NM_014365		Approved	H11, E2IG1, HSP22, HspB8	uc001txb.3	Q9UJY1		ENST00000281938.2:c.132G>A	12.37:g.119617249G>A							p.L44L	NM_014365.2	NP_055180.1	Q9UJY1	HSPB8_HUMAN			1	803	+	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		44					B2R6A6|Q6FIH3|Q9UKS3	Silent	SNP	ENST00000281938.2	37	c.132G>A	CCDS9189.1																																																																																				0.682	HSPB8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401647.1	NM_014365		42	76	0	0	0	1	0	42	76					A	119617249	G	A	119617249	2	1	435	1	0	0	0	0	0	0	0	1	7423	1281	45	3		3	HSPB8	12	119617249	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	978048	119617249	14234646	5917	26842											
CCDC60	160777	broad.mit.edu	37	chr12	119942901	119942901	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aattcaaaattcccacaatgCgagtcaccaaccgcaaacca	17	6	4	14	2	2	0	2	0	0	0	3	1	3	0	4	0	3	1	4	0	6	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:119942901C>T	ENST00000327554.2	+	7	1141	c.676C>T	c.(676-678)Cga>Tga	p.R226*	RP11-768F21.1_ENST00000509470.2_lincRNA	NM_178499.3	NP_848594.2	Q8IWA6	CCD60_HUMAN	coiled-coil domain containing 60	226										endometrium(4)|kidney(3)|large_intestine(8)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.207)		TCCCACAATGCGAGTCACCAA	0.517																																						ENST00000327554.2																			0				endometrium(4)|kidney(3)|large_intestine(8)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						c.(676-678)Cga>Tga		coiled-coil domain containing 60							56	62	60					12																	119942901		2203	4300	6503	SO:0001587	stop_gained	160777							g.chr12:119942901C>T	BC040553	CCDS9190.1	12q24.23	2006-02-03			ENSG00000183273	ENSG00000183273			28610	protein-coding gene	gene with protein product						12477932	Standard	NM_178499		Approved	MGC39827	uc001txe.3	Q8IWA6	OTTHUMG00000168943	ENST00000327554.2:c.676C>T	12.37:g.119942901C>T	ENSP00000333374:p.Arg226*					RP11-768F21.1_ENST00000509470.2_lincRNA	p.R226*	NM_178499.3	NP_848594.2	Q8IWA6	CCD60_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.207)	7	1141	+	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		226						Nonsense_Mutation	SNP	ENST00000327554.2	37	c.676C>T	CCDS9190.1	.	.	.	.	.	.	.	.	.	.	C	39	7.310390	0.98203	.	.	ENSG00000183273	ENST00000327554	.	.	.	5.07	5.07	0.68467	.	0.000000	0.45867	D	0.000322	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-14.7268	13.9816	0.64308	0.0:1.0:0.0:0.0	.	.	.	.	X	226	.	.	R	+	1	2	CCDC60	118427284	0.888000	0.30383	0.020000	0.16555	0.003000	0.03518	3.549000	0.53681	2.340000	0.79590	0.650000	0.86243	CGA		0.517	CCDC60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401680.1	NM_178499		17	35	0	0	0	1	0	17	35					T	119942901	C	T	119942901	4	4	435	1	0	0	0	0	0	1	0	0	2831	760	27	1	702	1	CCDC60	12	119942901	Nonsense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	325652	119942901	13908994	5918	26843											
CIT	11113	broad.mit.edu	37	chr12	120189920	120189920	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cagctctgtcttcgcctggcGaagctggctctccagggccg	4	9	13	15	3	3	0	0	0	3	0	5	1	3	0	3	3	2	3	3	3	1	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:120189920G>A	ENST00000261833.7	-	22	2765	c.2713C>T	c.(2713-2715)Cgc>Tgc	p.R905C	CIT_ENST00000392521.2_Missense_Mutation_p.R947C|CIT_ENST00000537607.1_5'UTR	NM_007174.2	NP_009105.1	O14578	CTRO_HUMAN	citron rho-interacting serine/threonine kinase	905					cytokinesis (GO:0000910)|dendrite development (GO:0016358)|G2/M transition of mitotic cell cycle (GO:0000086)|generation of neurons (GO:0048699)|Golgi organization (GO:0007030)|intracellular signal transduction (GO:0035556)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic nuclear division (GO:0007067)|mitotic sister chromatid segregation (GO:0000070)|negative regulation of dendrite morphogenesis (GO:0050774)|regulation of actin polymerization or depolymerization (GO:0008064)|spermatogenesis (GO:0007283)	actin cytoskeleton (GO:0015629)|Golgi cisterna (GO:0031985)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|vacuole (GO:0005773)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|PDZ domain binding (GO:0030165)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	86	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)		BRCA - Breast invasive adenocarcinoma(302;0.211)		TTCGCCTGGCGAAGCTGGCTC	0.607																																						ENST00000392521.2																			0				breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	86						c.(2839-2841)Cgc>Tgc		citron (rho-interacting, serine/threonine kinase 21)							51	48	49					12																	120189920		2203	4300	6503	SO:0001583	missense	11113				intracellular signal transduction		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding|small GTPase regulator activity	g.chr12:120189920G>A	AB023166	CCDS9192.1, CCDS55891.1	12q24.23	2014-04-23	2014-04-23		ENSG00000122966	ENSG00000122966			1985	protein-coding gene	gene with protein product	"serine/threonine kinase 21"	605629	"citron (rho-interacting, serine/threonine kinase 21)"			9792683	Standard	NM_001206999		Approved	KIAA0949, STK21, CRIK	uc001txj.2	O14578	OTTHUMG00000134325	ENST00000261833.7:c.2713C>T	12.37:g.120189920G>A	ENSP00000261833:p.Arg905Cys					CIT_ENST00000537607.1_5'UTR|CIT_ENST00000261833.7_Missense_Mutation_p.R905C	p.R947C	NM_001206999.1	NP_001193928.1	O14578	CTRO_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.211)	23	2894	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)	905					Q2M5E1|Q6XUH8|Q86UQ9|Q9UPZ7	Missense_Mutation	SNP	ENST00000261833.7	37	c.2839C>T	CCDS9192.1	.	.	.	.	.	.	.	.	.	.	G	19.84	3.901375	0.72754	.	.	ENSG00000122966	ENST00000392521;ENST00000261833	T;T	0.68025	-0.19;-0.3	5.41	4.51	0.55191	.	0.129206	0.56097	D	0.000040	T	0.51312	0.1667	N	0.08118	0	0.58432	D	0.999995	D;P;D	0.65815	0.995;0.946;0.968	B;B;B	0.44315	0.446;0.249;0.431	T	0.62364	-0.6870	10	0.72032	D	0.01	.	16.1033	0.81203	0.0:0.1343:0.8657:0.0	.	947;905;438	Q2M5E1;O14578;O14578-3	.;CTRO_HUMAN;.	C	947;905	ENSP00000376306:R947C;ENSP00000261833:R905C	ENSP00000261833:R905C	R	-	1	0	CIT	118674303	1.000000	0.71417	0.971000	0.41717	0.949000	0.60115	6.431000	0.73395	1.255000	0.44051	-0.181000	0.13052	CGC		0.607	CIT-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000259410.4	NM_007174		9	23	0	0	0	1	0	9	23					A	120189920	G	A	120189920	3	1	435	1	0	0	0	0	1	0	0	0	3438	1058	37	2	3474	2	CIT	12	120189920	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	247019	120189920	13661975	5919	26844											
GCN1L1	10985	broad.mit.edu	37	chr12	120569761	120569761	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgctgtagaacggcactaagCtcctcttcagtcaaaaaggc	12	9	9	11	1	3	1	2	0	1	1	4	1	4	1	1	2	3	4	1	2	5	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:120569761C>T	ENST00000300648.6	-	54	7395	c.7383G>A	c.(7381-7383)gaG>gaA	p.E2461E		NM_006836.1	NP_006827	Q92616	GCN1L_HUMAN	GCN1 general control of amino-acid synthesis 1-like 1 (yeast)	2461					regulation of translation (GO:0006417)|translation (GO:0006412)	cytoplasm (GO:0005737)|membrane (GO:0016020)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)			NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CGGCACTAAGCTCCTCTTCAG	0.582																																						ENST00000300648.6																			0				NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94						c.(7381-7383)gaG>gaA		GCN1 general control of amino-acid synthesis 1-like 1 (yeast)							63	65	64					12																	120569761		2000	4175	6175	SO:0001819	synonymous_variant	10985				regulation of translation	ribosome	protein binding|translation factor activity, nucleic acid binding	g.chr12:120569761C>T	U77700	CCDS41847.1	12q24.2	2008-07-03	2001-11-28						4199	protein-coding gene	gene with protein product		605614	"GCN1 (general control of amino-acid synthesis 1, yeast)-like 1"			9234705	Standard	NM_006836		Approved	KIAA0219, GCN1, GCN1L	uc001txo.3	Q92616	OTTHUMG00000169338	ENST00000300648.6:c.7383G>A	12.37:g.120569761C>T							p.E2461E	NM_006836.1	NP_006827.1	Q92616	GCN1L_HUMAN			54	7395	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		2461					A8KAY1|O95001|O95651|Q6P2S3|Q86X65|Q8N5I5|Q8WU80|Q99736|Q9UE60	Silent	SNP	ENST00000300648.6	37	c.7383G>A	CCDS41847.1																																																																																				0.582	GCN1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403592.1			6	12	0	0	0	1	0	6	12					T	120569761	C	T	120569761	2	4	435	1	0	0	0	0	0	0	0	1	6299	796	28	3		3	GCN1L1	12	120569761	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	379841	120569761	13282134	5920	26845											
GCN1L1	10985	broad.mit.edu	37	chr12	120574343	120574343	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgagtgtctcgagcagagccGccttcacattccagctgaac	9	9	10	13	2	2	3	1	2	1	1	4	4	3	3	3	0	4	2	3	0	1	2	rs201840533		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:120574343G>A	ENST00000300648.6	-	51	6983	c.6971C>T	c.(6970-6972)gCg>gTg	p.A2324V		NM_006836.1	NP_006827	Q92616	GCN1L_HUMAN	GCN1 general control of amino-acid synthesis 1-like 1 (yeast)	2324					regulation of translation (GO:0006417)|translation (GO:0006412)	cytoplasm (GO:0005737)|membrane (GO:0016020)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)			NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GAGCAGAGCCGCCTTCACATT	0.577																																						ENST00000300648.6																			0				NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94						c.(6970-6972)gCg>gTg		GCN1 general control of amino-acid synthesis 1-like 1 (yeast)		G	VAL/ALA	1,4055		0,1,2027	46	50	49		6971	4.4	1	12		49	1,8389		0,1,4194	yes	missense	GCN1L1	NM_006836.1	64	0,2,6221	AA,AG,GG		0.0119,0.0247,0.0161	benign	2324/2672	120574343	2,12444	2028	4195	6223	SO:0001583	missense	10985				regulation of translation	ribosome	protein binding|translation factor activity, nucleic acid binding	g.chr12:120574343G>A	U77700	CCDS41847.1	12q24.2	2008-07-03	2001-11-28						4199	protein-coding gene	gene with protein product		605614	"GCN1 (general control of amino-acid synthesis 1, yeast)-like 1"			9234705	Standard	NM_006836		Approved	KIAA0219, GCN1, GCN1L	uc001txo.3	Q92616	OTTHUMG00000169338	ENST00000300648.6:c.6971C>T	12.37:g.120574343G>A	ENSP00000300648:p.Ala2324Val						p.A2324V	NM_006836.1	NP_006827.1	Q92616	GCN1L_HUMAN			51	6983	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		2324					A8KAY1|O95001|O95651|Q6P2S3|Q86X65|Q8N5I5|Q8WU80|Q99736|Q9UE60	Missense_Mutation	SNP	ENST00000300648.6	37	c.6971C>T	CCDS41847.1	.	.	.	.	.	.	.	.	.	.	G	14.10	2.435552	0.43224	2.47E-4	1.19E-4	ENSG00000089154	ENST00000300648	T	0.64260	-0.09	5.45	4.44	0.53790	Armadillo-like helical (1);Armadillo-type fold (1);	0.219310	0.39834	N	0.001250	T	0.37293	0.0998	N	0.12182	0.205	0.34874	D	0.743908	B	0.10296	0.003	B	0.09377	0.004	T	0.41627	-0.9498	10	0.40728	T	0.16	.	3.5439	0.07821	0.3605:0.0:0.6395:0.0	.	2324	Q92616	GCN1L_HUMAN	V	2324	ENSP00000300648:A2324V	ENSP00000300648:A2324V	A	-	2	0	GCN1L1	119058726	1.000000	0.71417	0.985000	0.45067	0.960000	0.62799	4.882000	0.63121	2.548000	0.85928	0.591000	0.81541	GCG		0.577	GCN1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403592.1			6	19	0	0	0	1	0	6	19					A	120574343	G	A	120574343	3	1	435	1	0	0	0	0	1	0	0	0	6299	1087	38	1	1076	1	GCN1L1	12	120574343	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	4582	120574343	13277552	5921	26846											
GCN1L1	10985	broad.mit.edu	37	chr12	120575043	120575043	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagaatcctggcacatgctcGcctttgctctcgttccctat	6	13	7	15	2	1	1	0	0	1	1	5	1	3	1	3	1	2	4	3	1	2	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:120575043G>A	ENST00000300648.6	-	50	6756	c.6744C>T	c.(6742-6744)ggC>ggT	p.G2248G		NM_006836.1	NP_006827	Q92616	GCN1L_HUMAN	GCN1 general control of amino-acid synthesis 1-like 1 (yeast)	2248					regulation of translation (GO:0006417)|translation (GO:0006412)	cytoplasm (GO:0005737)|membrane (GO:0016020)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)			NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GCACATGCTCGCCTTTGCTCT	0.577																																						ENST00000300648.6																			0				NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94						c.(6742-6744)ggC>ggT		GCN1 general control of amino-acid synthesis 1-like 1 (yeast)							154	157	156					12																	120575043		2051	4186	6237	SO:0001819	synonymous_variant	10985				regulation of translation	ribosome	protein binding|translation factor activity, nucleic acid binding	g.chr12:120575043G>A	U77700	CCDS41847.1	12q24.2	2008-07-03	2001-11-28						4199	protein-coding gene	gene with protein product		605614	"GCN1 (general control of amino-acid synthesis 1, yeast)-like 1"			9234705	Standard	NM_006836		Approved	KIAA0219, GCN1, GCN1L	uc001txo.3	Q92616	OTTHUMG00000169338	ENST00000300648.6:c.6744C>T	12.37:g.120575043G>A							p.G2248G	NM_006836.1	NP_006827.1	Q92616	GCN1L_HUMAN			50	6756	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		2248					A8KAY1|O95001|O95651|Q6P2S3|Q86X65|Q8N5I5|Q8WU80|Q99736|Q9UE60	Silent	SNP	ENST00000300648.6	37	c.6744C>T	CCDS41847.1																																																																																				0.577	GCN1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403592.1			59	69	0	0	0	1	0	59	69					A	120575043	G	A	120575043	2	1	435	1	0	0	0	0	0	0	0	1	6299	1074	38	1		1	GCN1L1	12	120575043	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	700	120575043	13276852	5922	26847											
GCN1L1	10985	broad.mit.edu	37	chr12	120594309	120594309	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcacacggggactgcaaggCacagagcagcacgtccacct	11	3	13	14	2	0	1	0	0	0	1	1	2	1	2	2	4	3	5	2	4	1	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:120594309C>T	ENST00000300648.6	-	28	3280	c.3268G>A	c.(3268-3270)Gcc>Acc	p.A1090T	MIR4498_ENST00000577599.1_RNA	NM_006836.1	NP_006827	Q92616	GCN1L_HUMAN	GCN1 general control of amino-acid synthesis 1-like 1 (yeast)	1090					regulation of translation (GO:0006417)|translation (GO:0006412)	cytoplasm (GO:0005737)|membrane (GO:0016020)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)			NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GACTGCAAGGCACAGAGCAGC	0.607																																						ENST00000300648.6																			0				NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94						c.(3268-3270)Gcc>Acc		GCN1 general control of amino-acid synthesis 1-like 1 (yeast)							53	60	57					12																	120594309		2184	4277	6461	SO:0001583	missense	10985				regulation of translation	ribosome	protein binding|translation factor activity, nucleic acid binding	g.chr12:120594309C>T	U77700	CCDS41847.1	12q24.2	2008-07-03	2001-11-28						4199	protein-coding gene	gene with protein product		605614	"GCN1 (general control of amino-acid synthesis 1, yeast)-like 1"			9234705	Standard	NM_006836		Approved	KIAA0219, GCN1, GCN1L	uc001txo.3	Q92616	OTTHUMG00000169338	ENST00000300648.6:c.3268G>A	12.37:g.120594309C>T	ENSP00000300648:p.Ala1090Thr						p.A1090T	NM_006836.1	NP_006827.1	Q92616	GCN1L_HUMAN			28	3280	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		1090					A8KAY1|O95001|O95651|Q6P2S3|Q86X65|Q8N5I5|Q8WU80|Q99736|Q9UE60	Missense_Mutation	SNP	ENST00000300648.6	37	c.3268G>A	CCDS41847.1	.	.	.	.	.	.	.	.	.	.	C	35	5.463191	0.96257	.	.	ENSG00000089154	ENST00000300648	T	0.39056	1.1	6.06	6.06	0.98353	Armadillo-like helical (1);Armadillo-type fold (1);	0.051148	0.85682	D	0.000000	T	0.58119	0.2100	M	0.69823	2.125	0.80722	D	1	D	0.58268	0.982	P	0.51701	0.677	T	0.56992	-0.7887	10	0.51188	T	0.08	.	20.6282	0.99521	0.0:1.0:0.0:0.0	.	1090	Q92616	GCN1L_HUMAN	T	1090	ENSP00000300648:A1090T	ENSP00000300648:A1090T	A	-	1	0	GCN1L1	119078692	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.467000	0.66737	2.871000	0.98454	0.655000	0.94253	GCC		0.607	GCN1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403592.1			5	6	0	0	0	1	0	5	6					T	120594309	C	T	120594309	3	4	435	1	0	0	0	0	1	0	0	0	6299	710	25	3	4871	3	GCN1L1	12	120594309	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	19266	120594309	13257586	5923	26848											
GCN1L1	10985	broad.mit.edu	37	chr12	120613962	120613962	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcaccagccagtcctttcacGatgtccatggcatactggct	8	11	8	14	1	2	0	2	0	0	0	4	1	4	0	4	2	2	2	4	2	1	2	rs199525450		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:120613962G>A	ENST00000300648.6	-	10	909	c.897C>T	c.(895-897)atC>atT	p.I299I		NM_006836.1	NP_006827	Q92616	GCN1L_HUMAN	GCN1 general control of amino-acid synthesis 1-like 1 (yeast)	299					regulation of translation (GO:0006417)|translation (GO:0006412)	cytoplasm (GO:0005737)|membrane (GO:0016020)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)			NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GTCCTTTCACGATGTCCATGG	0.512																																						ENST00000300648.6																			0				NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94						c.(895-897)atC>atT		GCN1 general control of amino-acid synthesis 1-like 1 (yeast)							104	104	104					12																	120613962		2013	4189	6202	SO:0001819	synonymous_variant	10985				regulation of translation	ribosome	protein binding|translation factor activity, nucleic acid binding	g.chr12:120613962G>A	U77700	CCDS41847.1	12q24.2	2008-07-03	2001-11-28						4199	protein-coding gene	gene with protein product		605614	"GCN1 (general control of amino-acid synthesis 1, yeast)-like 1"			9234705	Standard	NM_006836		Approved	KIAA0219, GCN1, GCN1L	uc001txo.3	Q92616	OTTHUMG00000169338	ENST00000300648.6:c.897C>T	12.37:g.120613962G>A							p.I299I	NM_006836.1	NP_006827.1	Q92616	GCN1L_HUMAN			10	909	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		299					A8KAY1|O95001|O95651|Q6P2S3|Q86X65|Q8N5I5|Q8WU80|Q99736|Q9UE60	Silent	SNP	ENST00000300648.6	37	c.897C>T	CCDS41847.1																																																																																				0.512	GCN1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403592.1			19	32	0	0	0	1	0	19	32					A	120613962	G	A	120613962	2	1	435	1	0	0	0	0	0	0	0	1	6299	1048	37	2		2	GCN1L1	12	120613962	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	19653	120613962	13237933	5924	26849											
RPLP0	6175	broad.mit.edu	37	chr12	120637005	120637005	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttcccccggatatgaggcagCagtctgcaaagagaagttta	12	9	11	9	1	1	2	0	1	1	1	2	4	2	3	2	2	2	4	2	2	4	4	rs548345807		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:120637005C>T	ENST00000551150.1	-	3	549	c.234G>A	c.(232-234)ctG>ctA	p.L78L	RPLP0_ENST00000392514.4_Silent_p.L78L|PXN-AS1_ENST00000535200.1_RNA|RPLP0_ENST00000313104.5_Silent_p.L78L|PXN-AS1_ENST00000539446.1_RNA|RPLP0_ENST00000546989.1_Silent_p.L78L|RPLP0_ENST00000550296.1_5'UTR|PXN-AS1_ENST00000542314.1_RNA|PXN-AS1_ENST00000538804.1_RNA|PXN-AS1_ENST00000542265.1_RNA|RPLP0_ENST00000552292.1_5'Flank|RPLP0_ENST00000228306.4_Silent_p.L78L			P05388	RLA0_HUMAN	ribosomal protein, large, P0	78					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|ribosome biogenesis (GO:0042254)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)	15	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TATGAGGCAGCAGTCTGCAAA	0.527													C|||	1	0.000199681	8e-04	0	5008	,	,		20132	0		0	False		,,,				2504	0					ENST00000551150.1																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)	15						c.(232-234)ctG>ctA		ribosomal protein, large, P0							85	86	86					12																	120637005		2203	4300	6503	SO:0001819	synonymous_variant	6175				endocrine pancreas development|interspecies interaction between organisms|ribosome biogenesis|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|nucleus	protein binding|RNA binding|structural constituent of ribosome	g.chr12:120637005C>T	AB007187	CCDS9193.1	12q24.2	2011-07-29			ENSG00000089157	ENSG00000089157		"L ribosomal proteins"	10371	protein-coding gene	gene with protein product	"acidic ribosomal phosphoprotein P0"	180510				9582194	Standard	NM_053275		Approved	PRLP0, P0, L10E, RPP0, LP0	uc001txq.3	P05388	OTTHUMG00000169317	ENST00000551150.1:c.234G>A	12.37:g.120637005C>T						RPLP0_ENST00000392514.4_Silent_p.L78L|RPLP0_ENST00000313104.5_Silent_p.L78L|RPLP0_ENST00000228306.4_Silent_p.L78L|RPLP0_ENST00000550296.1_5'UTR|RPLP0_ENST00000546989.1_Silent_p.L78L	p.L78L			P05388	RLA0_HUMAN			3	549	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		78					Q3B7A4|Q9BVK4	Silent	SNP	ENST00000551150.1	37	c.234G>A	CCDS9193.1																																																																																				0.527	RPLP0-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403448.3	NM_053275		12	19	0	0	0	1	0	12	19					T	120637005	C	T	120637005	2	4	435	1	0	0	0	0	0	0	0	1	13604	697	25	3		3	RPLP0	12	120637005	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	23043	120637005	13214890	5925	26850											
COQ5	84274	broad.mit.edu	37	chr12	120960094	120960094	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagcaaatccttccaaacaCgatggataccaagactcatc	15	7	6	13	1	1	1	1	0	0	1	4	3	3	2	3	1	3	2	3	1	4	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:120960094C>T	ENST00000288532.6	-	2	315	c.275G>A	c.(274-276)cGt>cAt	p.R92H	COQ5_ENST00000445328.2_Missense_Mutation_p.R92H	NM_032314.3	NP_115690.3	Q5HYK3	COQ5_HUMAN	coenzyme Q5 homolog, methyltransferase (S. cerevisiae)	92					small molecule metabolic process (GO:0044281)|ubiquinone biosynthetic process (GO:0006744)	mitochondrion (GO:0005739)	methyltransferase activity (GO:0008168)	p.R92H(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(1)|prostate(1)|urinary_tract(3)	20	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CTTCCAAACACGATGGATACC	0.458																																						ENST00000288532.6																			1	Substitution - Missense(1)	p.R92H(1)	haematopoietic_and_lymphoid_tissue(1)	breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(1)|prostate(1)|urinary_tract(3)	20						c.(274-276)cGt>cAt		coenzyme Q5 homolog, methyltransferase (S. cerevisiae)							223	179	194					12																	120960094		2203	4300	6503	SO:0001583	missense	84274				ubiquinone biosynthetic process	mitochondrion	methyltransferase activity	g.chr12:120960094C>T	AK057777	CCDS31912.1	12q24.31	2011-09-16	2006-04-04		ENSG00000110871	ENSG00000110871	2.1.1.201		28722	protein-coding gene	gene with protein product	"2-methoxy-6-polyprenyl-1,4-benzoquinol methylase"		"coenzyme Q5 homolog, methyltransferase (yeast)"				Standard	NM_032314		Approved	MGC4767	uc001tyn.3	Q5HYK3	OTTHUMG00000169375	ENST00000288532.6:c.275G>A	12.37:g.120960094C>T	ENSP00000288532:p.Arg92His					COQ5_ENST00000445328.2_Missense_Mutation_p.R92H	p.R92H	NM_032314.3	NP_115690.3	Q5HYK3	COQ5_HUMAN			2	315	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		92					B4DEJ4|Q32Q28|Q53HH0|Q96LV1|Q9BSP8	Missense_Mutation	SNP	ENST00000288532.6	37	c.275G>A	CCDS31912.1	.	.	.	.	.	.	.	.	.	.	C	36	5.764996	0.96906	.	.	ENSG00000110871	ENST00000288532;ENST00000302223;ENST00000445328;ENST00000552443;ENST00000551769;ENST00000547736	T;T;T;T;T	0.67171	-0.25;-0.25;-0.25;-0.25;-0.25	5.91	5.91	0.95273	UbiE/COQ5 methyltransferase, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.85256	0.5655	M	0.86740	2.835	0.53688	D	0.999975	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.86510	0.1809	10	0.72032	D	0.01	.	19.905	0.97004	0.0:1.0:0.0:0.0	.	92;92	B4DP72;Q5HYK3	.;COQ5_HUMAN	H	92;92;92;11;11;66	ENSP00000288532:R92H;ENSP00000401798:R92H;ENSP00000449863:R11H;ENSP00000450001:R11H;ENSP00000449933:R66H	ENSP00000288532:R92H	R	-	2	0	COQ5	119444477	1.000000	0.71417	0.938000	0.37757	0.991000	0.79684	7.594000	0.82698	2.804000	0.96469	0.462000	0.41574	CGT		0.458	COQ5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403767.2	NM_032314		19	37	0	0	0	1	0	19	37					T	120960094	C	T	120960094	3	4	435	1	0	0	0	0	1	0	0	0	3748	536	19	1	732	1	COQ5	12	120960094	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	323089	120960094	12891801	5926	26851											
CABP1	9478	broad.mit.edu	37	chr12	121098077	121098077	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggatctgggcaactgcatgcGcaccatgggctacatgccca	9	7	12	13	1	1	0	0	0	1	0	1	1	1	1	2	3	5	4	2	3	2	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:121098077G>A	ENST00000316803.3	+	3	898	c.764G>A	c.(763-765)cGc>cAc	p.R255H	CABP1_ENST00000453000.1_Missense_Mutation_p.R191H|CABP1_ENST00000351200.2_Missense_Mutation_p.R52H|CABP1_ENST00000288616.3_Missense_Mutation_p.R112H	NM_001033677.1	NP_001028849.1	Q9NZU7	CABP1_HUMAN	calcium binding protein 1	255	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.				negative regulation of catalytic activity (GO:0043086)|negative regulation of cell communication by electrical coupling (GO:0010651)|negative regulation of protein import into nucleus (GO:0042308)|negative regulation of voltage-gated calcium channel activity (GO:1901386)	cell junction (GO:0030054)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendrite (GO:0030425)|extracellular space (GO:0005615)|Golgi membrane (GO:0000139)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)	calcium ion binding (GO:0005509)|calcium-dependent protein binding (GO:0048306)|enzyme inhibitor activity (GO:0004857)|nuclear localization sequence binding (GO:0008139)			central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(6)	9	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					AACTGCATGCGCACCATGGGC	0.572																																						ENST00000453000.1																			0				central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(6)	9						c.(571-573)cGc>cAc		calcium binding protein 1							127	108	115					12																	121098077		2203	4300	6503	SO:0001583	missense	9478					cell cortex|cell junction|Golgi apparatus|perinuclear region of cytoplasm|postsynaptic density|postsynaptic membrane	calcium ion binding|calcium-dependent protein binding|enzyme inhibitor activity|protein binding	g.chr12:121098077G>A	AF169148	CCDS9204.1, CCDS9205.1, CCDS31913.1	12q24.31	2013-01-10	2007-03-12		ENSG00000157782	ENSG00000157782		"EF-hand domain containing"	1384	protein-coding gene	gene with protein product	"calbrain", "caldendrin"	605563				9920909, 10625670	Standard	NM_004276		Approved		uc001tyu.3	Q9NZU7	OTTHUMG00000156794	ENST00000316803.3:c.764G>A	12.37:g.121098077G>A	ENSP00000317310:p.Arg255His					CABP1_ENST00000316803.3_Missense_Mutation_p.R255H|CABP1_ENST00000288616.3_Missense_Mutation_p.R112H|CABP1_ENST00000351200.2_Missense_Mutation_p.R52H	p.R191H			Q9NZU7	CABP1_HUMAN			3	1084	+	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)		255					O95663|Q8N6H5|Q9NZU8	Missense_Mutation	SNP	ENST00000316803.3	37	c.572G>A	CCDS31913.1	.	.	.	.	.	.	.	.	.	.	G	35	5.489552	0.96323	.	.	ENSG00000157782	ENST00000316803;ENST00000288616;ENST00000351200;ENST00000453000	T;T;T;T	0.64991	-0.13;-0.13;-0.13;-0.13	5.3	5.3	0.74995	EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	D	0.84633	0.5515	M	0.92169	3.28	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;0.998;1.0;1.0	D	0.88437	0.3039	10	0.87932	D	0	-23.3081	18.9541	0.92650	0.0:0.0:1.0:0.0	.	191;52;112;255	C9J8G2;Q9NZU7-2;Q9NZU7-1;Q9NZU7	.;.;.;CABP1_HUMAN	H	255;112;52;191	ENSP00000317310:R255H;ENSP00000288616:R112H;ENSP00000288615:R52H;ENSP00000398959:R191H	ENSP00000288616:R112H	R	+	2	0	CABP1	119582460	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.869000	0.99810	2.482000	0.83794	0.591000	0.81541	CGC		0.572	CABP1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000345822.1	NM_001033677		4	25	0	0	0	1	0	4	25					A	121098077	G	A	121098077	3	1	435	1	0	0	0	0	1	0	0	0	2531	1087	38	1	1007	1	CABP1	12	121098077	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	137983	121098077	12753818	5927	26852											
UNC119B	84747	broad.mit.edu	37	chr12	121151157	121151157	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gagatttggagacagggacaGtactttttgagattgccaaa	13	11	12	5	0	0	3	0	1	0	3	0	7	0	4	1	2	2	1	1	2	2	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:121151157G>A	ENST00000344651.4	+	2	365	c.325G>A	c.(325-327)Gta>Ata	p.V109I	UNC119B_ENST00000539658.1_3'UTR	NM_001080533.1	NP_001074002.1	A6NIH7	U119B_HUMAN	unc-119 homolog B (C. elegans)	109					cilium morphogenesis (GO:0060271)|lipoprotein transport (GO:0042953)	ciliary transition zone (GO:0035869)	lipid binding (GO:0008289)			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(4)	9	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					GACAGGGACAGTACTTTTTGA	0.398											OREG0022197	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000344651.4																			0				breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(4)	9						c.(325-327)Gta>Ata		unc-119 homolog B (C. elegans)							148	134	139					12																	121151157		2203	4300	6503	SO:0001583	missense	84747							g.chr12:121151157G>A		CCDS31914.1	12q24	2014-06-16	2001-11-28		ENSG00000175970	ENSG00000175970			16488	protein-coding gene	gene with protein product	"POC7 centriolar protein homolog B (Chlamydomonas)"		"unc119 (C.elegans) homolog B"				Standard	NM_001080533		Approved	MGC5139, POC7B	uc001tyz.4	A6NIH7	OTTHUMG00000169201	ENST00000344651.4:c.325G>A	12.37:g.121151157G>A	ENSP00000344942:p.Val109Ile		OREG0022197	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1509	UNC119B_ENST00000539658.1_3'UTR	p.V109I	NM_001080533.1	NP_001074002.1	A6NIH7	U119B_HUMAN			2	365	+	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)		109						Missense_Mutation	SNP	ENST00000344651.4	37	c.325G>A	CCDS31914.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.131129	0.77549	.	.	ENSG00000175970	ENST00000344651;ENST00000537794	.	.	.	5.25	5.25	0.73442	Immunoglobulin E-set (1);	0.000000	0.85682	D	0.000000	T	0.65995	0.2745	M	0.64567	1.98	0.80722	D	1	B	0.17465	0.022	B	0.15052	0.012	T	0.60929	-0.7165	9	0.30854	T	0.27	-19.845	19.0487	0.93032	0.0:0.0:1.0:0.0	.	109	A6NIH7	U119B_HUMAN	I	109	.	ENSP00000344942:V109I	V	+	1	0	UNC119B	119635540	1.000000	0.71417	0.986000	0.45419	0.946000	0.59487	9.652000	0.98499	2.724000	0.93272	0.563000	0.77884	GTA		0.398	UNC119B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402857.1	NM_001080533		23	65	0	0	0	1	0	23	65					A	121151157	G	A	121151157	3	1	435	1	0	0	0	0	1	0	0	0	16980	1029	36	3	331	3	UNC119B	12	121151157	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	53080	121151157	12700738	5928	26853											
CAMKK2	10645	broad.mit.edu	37	chr12	121712246	121712246	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcacagggcttctggctttcGctgctgctgctgcccctgcc	2	12	11	16	1	2	0	1	0	1	0	3	0	2	0	3	2	5	6	3	2	0	2	rs146079022		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:121712246G>A	ENST00000324774.5	-	2	912	c.84C>T	c.(82-84)agC>agT	p.S28S	CAMKK2_ENST00000535524.1_5'UTR|CAMKK2_ENST00000446440.2_Silent_p.S28S|CAMKK2_ENST00000347034.2_Silent_p.S28S|CAMKK2_ENST00000404169.3_Silent_p.S28S|CAMKK2_ENST00000392473.2_Silent_p.S28S|CAMKK2_ENST00000412367.2_Silent_p.S28S|CAMKK2_ENST00000538733.1_Silent_p.S28S|CAMKK2_ENST00000337174.3_Silent_p.S28S|CAMKK2_ENST00000402834.4_Silent_p.S28S|CAMKK2_ENST00000392474.2_Silent_p.S28S	NM_006549.3	NP_006540.3	Q96RR4	KKCC2_HUMAN	calcium/calmodulin-dependent protein kinase kinase 2, beta	28					calcium-mediated signaling (GO:0019722)|MAPK cascade (GO:0000165)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of protein kinase activity (GO:0045859)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|calmodulin-dependent protein kinase activity (GO:0004683)|protein tyrosine kinase activity (GO:0004713)			endometrium(2)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	17	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					TCTGGCTTTCGCTGCTGCTGC	0.647																																						ENST00000324774.5																			0				endometrium(2)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	17						c.(82-84)agC>agT		calcium/calmodulin-dependent protein kinase kinase 2, beta		G	,,,,,,	1,4391		0,1,2195	16	18	17		84,84,84,84,84,84,84	-1.3	0.9	12	dbSNP_134	17	0,8566		0,0,4283	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	CAMKK2	NM_006549.3,NM_153499.2,NM_153500.1,NM_172214.2,NM_172215.2,NM_172216.1,NM_172226.2	,,,,,,	0,1,6478	AA,AG,GG		0.0,0.0228,0.0077	,,,,,,	28/589,28/542,28/499,28/534,28/491,28/546,28/542	121712246	1,12957	2196	4283	6479	SO:0001819	synonymous_variant	10645				calcium-mediated signaling|MAPKKK cascade|positive regulation of transcription, DNA-dependent|protein autophosphorylation|regulation of protein kinase activity	cytoplasm	ATP binding|calcium ion binding|calmodulin binding|calmodulin-dependent protein kinase activity|protein tyrosine kinase activity	g.chr12:121712246G>A	AF101264	CCDS9216.1, CCDS9217.1, CCDS9218.1, CCDS9219.1, CCDS44999.1, CCDS53837.1, CCDS58283.1	12q24.2	2002-08-13				ENSG00000110931			1470	protein-coding gene	gene with protein product		615002				9662074	Standard	NM_172226		Approved	CAMKK, KIAA0787, CAMKKB, MGC15254	uc001tzu.3	Q96RR4		ENST00000324774.5:c.84C>T	12.37:g.121712246G>A						CAMKK2_ENST00000538733.1_Silent_p.S28S|CAMKK2_ENST00000412367.2_Silent_p.S28S|CAMKK2_ENST00000337174.3_Silent_p.S28S|CAMKK2_ENST00000446440.2_Silent_p.S28S|CAMKK2_ENST00000402834.4_Silent_p.S28S|CAMKK2_ENST00000535524.1_5'UTR|CAMKK2_ENST00000392474.2_Silent_p.S28S|CAMKK2_ENST00000347034.2_Silent_p.S28S|CAMKK2_ENST00000404169.3_Silent_p.S28S|CAMKK2_ENST00000392473.2_Silent_p.S28S	p.S28S	NM_006549.3	NP_006540.3	Q96RR4	KKCC2_HUMAN			2	912	-	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)		28					A8K7Q7|O94883|Q8IUG2|Q8IUG3|Q8N3I4|Q8WY03|Q8WY04|Q8WY05|Q8WY06|Q96RP1|Q96RP2|Q96RR3|Q9BWE9|Q9UER3|Q9UES2|Q9Y5N2	Silent	SNP	ENST00000324774.5	37	c.84C>T	CCDS9216.1																																																																																				0.647	CAMKK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000402563.1	NM_172226		9	7	0	0	0	1	0	9	7					A	121712246	G	A	121712246	2	1	435	1	0	0	0	0	0	0	0	1	2607	1078	38	1		1	CAMKK2	12	121712246	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	561089	121712246	12139649	5929	26854											
KDM2B	84678	broad.mit.edu	37	chr12	121947469	121947469	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ttctccaccagagctttcagGcccttcagttcaaactcagt	9	12	6	14	0	5	1	4	0	1	1	6	1	5	1	3	1	2	2	3	1	1	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:121947469G>A	ENST00000377071.4	-	11	1620	c.1548C>T	c.(1546-1548)ggC>ggT	p.G516G	KDM2B_ENST00000536437.1_Silent_p.G399G|KDM2B_ENST00000538046.2_Silent_p.G426G|KDM2B_ENST00000542973.1_5'UTR|KDM2B_ENST00000377069.4_Silent_p.G485G	NM_032590.4	NP_115979.3	Q8NHM5	KDM2B_HUMAN	lysine (K)-specific demethylase 2B	516					embryonic camera-type eye morphogenesis (GO:0048596)|forebrain development (GO:0030900)|fourth ventricle development (GO:0021592)|hindbrain development (GO:0030902)|histone demethylation (GO:0016577)|histone H2A monoubiquitination (GO:0035518)|initiation of neural tube closure (GO:0021993)|lateral ventricle development (GO:0021670)|midbrain development (GO:0030901)|midbrain-hindbrain boundary morphogenesis (GO:0021555)|negative regulation of neural precursor cell proliferation (GO:2000178)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|spermatogenesis (GO:0007283)|third ventricle development (GO:0021678)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone demethylase activity (GO:0032452)|histone demethylase activity (H3-K36 specific) (GO:0051864)|rRNA binding (GO:0019843)|zinc ion binding (GO:0008270)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	19						GAGCTTTCAGGCCCTTCAGTT	0.602																																						ENST00000377069.4																			0				breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	19						c.(1453-1455)ggC>ggT		lysine (K)-specific demethylase 2B							68	71	70					12																	121947469		1907	4122	6029	SO:0001819	synonymous_variant	84678				embryonic camera-type eye morphogenesis|fourth ventricle development|histone H2A monoubiquitination|initiation of neural tube closure|lateral ventricle development|midbrain development|midbrain-hindbrain boundary morphogenesis|negative regulation of neural precursor cell proliferation|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|spermatogenesis|third ventricle development|transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|rRNA binding|zinc ion binding	g.chr12:121947469G>A	AJ459424	CCDS41849.1, CCDS41850.1	12q24.31	2014-02-18	2009-04-06	2009-04-06	ENSG00000089094	ENSG00000089094		"F-boxes / Leucine-rich repeats", "Chromatin-modifying enzymes / K-demethylases"	13610	protein-coding gene	gene with protein product	"jumonji C domain-containing histone demethylase 1B"	609078	"F-box and leucine-rich repeat protein 10"	FBXL10		10799292	Standard	NM_032590		Approved	PCCX2, CXXC2, Fbl10, JHDM1B	uc001uat.3	Q8NHM5	OTTHUMG00000169071	ENST00000377071.4:c.1548C>T	12.37:g.121947469G>A						KDM2B_ENST00000542973.1_5'UTR|KDM2B_ENST00000538046.2_Silent_p.G426G|KDM2B_ENST00000536437.1_Silent_p.G399G|KDM2B_ENST00000377071.4_Silent_p.G516G	p.G485G	NM_001005366.1	NP_001005366.1	Q8NHM5	KDM2B_HUMAN			11	1861	-			516					A8MRS1|Q8NCI2|Q96HC7|Q96SL0|Q96T03|Q9NS96|Q9UF75	Silent	SNP	ENST00000377071.4	37	c.1455C>T	CCDS41850.1																																																																																				0.602	KDM2B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000402132.2	NM_032590		14	18	0	0	0	1	0	14	18					A	121947469	G	A	121947469	2	1	435	1	0	0	0	0	0	0	0	1	8125	1190	42	3		3	KDM2B	12	121947469	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	235223	121947469	11904426	5930	26855											
WDR66	144406	broad.mit.edu	37	chr12	122392096	122392096	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tttaacacaaatactctcagCcacaatggaagggaagctgg	15	8	9	9	0	1	0	1	0	1	0	2	2	1	2	1	3	4	1	1	3	6	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:122392096C>T	ENST00000288912.4	+	10	2245	c.1391C>T	c.(1390-1392)gCc>gTc	p.A464V	WDR66_ENST00000397454.2_Missense_Mutation_p.A464V	NM_144668.5	NP_653269.3	Q8TBY9	WDR66_HUMAN	WD repeat domain 66	464							calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(13)|ovary(2)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	all_neural(191;0.0496)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000155)|Epithelial(86;0.000634)|BRCA - Breast invasive adenocarcinoma(302;0.248)		ATACTCTCAGCCACAATGGAA	0.433																																					Esophageal Squamous(85;849 1794 49757 52143)	ENST00000288912.4																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(13)|ovary(2)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						c.(1390-1392)gCc>gTc		WD repeat domain 66							108	103	105					12																	122392096		1904	4124	6028	SO:0001583	missense	144406						calcium ion binding	g.chr12:122392096C>T	AL833930	CCDS41853.1, CCDS53840.1	12q24.31	2014-07-31			ENSG00000158023	ENSG00000158023		"WD repeat domain containing"	28506	protein-coding gene	gene with protein product						17967944	Standard	NM_001178003		Approved	MGC33630, CaM-IP4	uc009zxk.3	Q8TBY9	OTTHUMG00000168948	ENST00000288912.4:c.1391C>T	12.37:g.122392096C>T	ENSP00000288912:p.Ala464Val					WDR66_ENST00000397454.2_Missense_Mutation_p.A464V	p.A464V	NM_144668.5	NP_653269.3	Q8TBY9	WDR66_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000155)|Epithelial(86;0.000634)|BRCA - Breast invasive adenocarcinoma(302;0.248)	10	2245	+	all_neural(191;0.0496)|Medulloblastoma(191;0.0922)		464					C9J1W2|Q8IYA3|Q8N898|Q8NDE7	Missense_Mutation	SNP	ENST00000288912.4	37	c.1391C>T	CCDS41853.1	.	.	.	.	.	.	.	.	.	.	C	16.01	3.002444	0.54254	.	.	ENSG00000158023	ENST00000288912;ENST00000397454	T;T	0.65549	0.92;-0.16	5.57	5.57	0.84162	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.246918	0.40908	D	0.000990	T	0.63954	0.2555	M	0.67953	2.075	0.26394	N	0.976531	P	0.37824	0.609	B	0.40864	0.342	T	0.63129	-0.6706	10	0.46703	T	0.11	.	13.8813	0.63684	0.0:0.7284:0.2716:0.0	.	464	Q8TBY9	WDR66_HUMAN	V	464	ENSP00000288912:A464V;ENSP00000380595:A464V	ENSP00000288912:A464V	A	+	2	0	WDR66	120876479	0.880000	0.30214	0.137000	0.22149	0.574000	0.36063	1.516000	0.35856	2.619000	0.88677	0.491000	0.48974	GCC		0.433	WDR66-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401700.1	NM_144668		4	123	0	0	0	1	0	4	123					T	122392096	C	T	122392096	3	4	435	1	0	0	0	0	1	0	0	0	17314	739	26	3	1425	3	WDR66	12	122392096	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	444627	122392096	11459799	5931	26856											
WDR66	144406	broad.mit.edu	37	chr12	122394993	122394993	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atttcagctacattgtcacaGgtgacattaaggggaacatt	13	12	9	7	0	2	1	2	1	0	0	2	2	2	2	0	3	3	1	0	3	3	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:122394993G>T	ENST00000288912.4	+	11	2403	c.1549G>T	c.(1549-1551)Ggt>Tgt	p.G517C	WDR66_ENST00000397454.2_Missense_Mutation_p.G517C	NM_144668.5	NP_653269.3	Q8TBY9	WDR66_HUMAN	WD repeat domain 66	517							calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(13)|ovary(2)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	all_neural(191;0.0496)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000155)|Epithelial(86;0.000634)|BRCA - Breast invasive adenocarcinoma(302;0.248)		CATTGTCACAGGTGACATTAA	0.373																																					Esophageal Squamous(85;849 1794 49757 52143)	ENST00000288912.4																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(13)|ovary(2)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						c.(1549-1551)Ggt>Tgt		WD repeat domain 66							96	89	91					12																	122394993		1868	4107	5975	SO:0001583	missense	144406						calcium ion binding	g.chr12:122394993G>T	AL833930	CCDS41853.1, CCDS53840.1	12q24.31	2014-07-31			ENSG00000158023	ENSG00000158023		"WD repeat domain containing"	28506	protein-coding gene	gene with protein product						17967944	Standard	NM_001178003		Approved	MGC33630, CaM-IP4	uc009zxk.3	Q8TBY9	OTTHUMG00000168948	ENST00000288912.4:c.1549G>T	12.37:g.122394993G>T	ENSP00000288912:p.Gly517Cys					WDR66_ENST00000397454.2_Missense_Mutation_p.G517C	p.G517C	NM_144668.5	NP_653269.3	Q8TBY9	WDR66_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000155)|Epithelial(86;0.000634)|BRCA - Breast invasive adenocarcinoma(302;0.248)	11	2403	+	all_neural(191;0.0496)|Medulloblastoma(191;0.0922)		517					C9J1W2|Q8IYA3|Q8N898|Q8NDE7	Missense_Mutation	SNP	ENST00000288912.4	37	c.1549G>T	CCDS41853.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.956471	0.73902	.	.	ENSG00000158023	ENST00000288912;ENST00000397454	T;T	0.34072	1.38;1.38	5.4	5.4	0.78164	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.63046	0.2478	M	0.84846	2.72	0.58432	D	0.999996	D	0.71674	0.998	D	0.68483	0.958	T	0.68941	-0.5276	10	0.87932	D	0	.	14.5174	0.67827	0.0:0.0:0.8526:0.1473	.	517	Q8TBY9	WDR66_HUMAN	C	517	ENSP00000288912:G517C;ENSP00000380595:G517C	ENSP00000288912:G517C	G	+	1	0	WDR66	120879376	0.999000	0.42202	0.991000	0.47740	0.997000	0.91878	2.889000	0.48601	2.535000	0.85469	0.585000	0.79938	GGT		0.373	WDR66-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401700.1	NM_144668		20	44	1	0	6.44725e-10	1	6.8705e-10	20	44					T	122394993	G	T	122394993	3	4	435	1	0	0	0	0	1	0	0	0	17314	1000	35	5	1587	5	WDR66	12	122394993	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	2897	122394993	11456902	5932	26857											
CLIP1	6249	broad.mit.edu	37	chr12	122803805	122803805	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgtagttttgcatttgtttGcttggtgtcctccaaggagg	5	17	12	7	0	0	0	0	0	0	0	2	1	2	1	2	3	2	5	2	3	2	6			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:122803805G>A	ENST00000540338.1	-	17	3381	c.3340C>T	c.(3340-3342)Caa>Taa	p.Q1114*	CLIP1_ENST00000537178.1_Nonsense_Mutation_p.Q1068*|CLIP1_ENST00000358808.2_Nonsense_Mutation_p.Q1103*|CLIP1_ENST00000302528.7_Nonsense_Mutation_p.Q1103*|CLIP1_ENST00000545889.1_Nonsense_Mutation_p.Q689*|CLIP1_ENST00000361654.4_Nonsense_Mutation_p.Q992*			P30622	CLIP1_HUMAN	CAP-GLY domain containing linker protein 1	1114					microtubule bundle formation (GO:0001578)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|positive regulation of microtubule polymerization (GO:0031116)|transport (GO:0006810)	cell projection (GO:0042995)|centrosome (GO:0005813)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endosome (GO:0005768)|intermediate filament (GO:0005882)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)	metal ion binding (GO:0046872)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|nucleic acid binding (GO:0003676)|protein homodimerization activity (GO:0042803)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|endometrium(4)|kidney(5)|large_intestine(16)|liver(1)|lung(21)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226)		GCATTTGTTTGCTTGGTGTCC	0.403																																						ENST00000358808.2																			0				NS(1)|breast(5)|endometrium(4)|kidney(5)|large_intestine(16)|liver(1)|lung(21)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						c.(3307-3309)Caa>Taa		CAP-GLY domain containing linker protein 1							204	175	185					12																	122803805		2203	4300	6503	SO:0001587	stop_gained	6249				mitotic prometaphase|positive regulation of microtubule polymerization	centrosome|cytosol|endosome|intermediate filament|kinetochore	nucleic acid binding|protein homodimerization activity|zinc ion binding	g.chr12:122803805G>A		CCDS9232.1, CCDS9233.1, CCDS58285.1	12q24.3	2013-01-17	2007-01-05	2007-01-05	ENSG00000130779	ENSG00000130779			10461	protein-coding gene	gene with protein product	"restin"	179838	"restin (Reed-Steinberg cell-expressed intermediate filament-associated protein)"	RSN		8222754	Standard	NM_001247997		Approved	CYLN1, CLIP170, CLIP, CLIP-170	uc001ucg.2	P30622	OTTHUMG00000168922	ENST00000540338.1:c.3340C>T	12.37:g.122803805G>A	ENSP00000439093:p.Gln1114*					CLIP1_ENST00000545889.1_Nonsense_Mutation_p.Q689*|CLIP1_ENST00000302528.7_Nonsense_Mutation_p.Q1103*|CLIP1_ENST00000540338.1_Nonsense_Mutation_p.Q1114*|CLIP1_ENST00000537178.1_Nonsense_Mutation_p.Q1068*|CLIP1_ENST00000361654.4_Nonsense_Mutation_p.Q992*	p.Q1103*	NM_001247997.1|NM_002956.2	NP_001234926.1|NP_002947.1	P30622	CLIP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226)	17	3461	-	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		1114					A0AVD3|Q17RS4|Q29RG0	Nonsense_Mutation	SNP	ENST00000540338.1	37	c.3307C>T	CCDS58285.1	.	.	.	.	.	.	.	.	.	.	G	43	9.839211	0.99276	.	.	ENSG00000130779	ENST00000545889;ENST00000302528;ENST00000358808;ENST00000542885;ENST00000392458;ENST00000537178;ENST00000540338	.	.	.	5.34	5.34	0.76211	.	0.325941	0.33346	N	0.005006	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.16420	T	0.52	-15.5483	17.5802	0.87965	0.0:0.0:1.0:0.0	.	.	.	.	X	689;1103;1103;833;145;1068;1114	.	ENSP00000303585:Q1103X	Q	-	1	0	CLIP1	121369758	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.060000	0.64312	2.658000	0.90341	0.563000	0.77884	CAA		0.403	CLIP1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000401625.1	NM_002956		20	34	0	0	0	1	0	20	34					A	122803805	G	A	122803805	4	1	435	1	0	0	0	0	0	1	0	0	3532	1328	46	3	1012	3	CLIP1	12	122803805	Nonsense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	408812	122803805	11048090	5933	26858											
KNTC1	9735	broad.mit.edu	37	chr12	123058925	123058925	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tagcgtgtttatctgacacgGacgtaagtaaatagtgacca	13	11	10	7	3	1	2	0	2	1	0	1	3	1	3	1	1	1	3	1	1	6	6			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:123058925G>A	ENST00000333479.7	+	27	2557	c.2380G>A	c.(2380-2382)Gac>Aac	p.D794N	KNTC1_ENST00000450485.2_Missense_Mutation_p.D757N	NM_014708.4	NP_055523.1	P50748	KNTC1_HUMAN	kinetochore associated 1	794					mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)|protein complex assembly (GO:0006461)|regulation of exit from mitosis (GO:0007096)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|kinetochore microtubule (GO:0005828)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle pole (GO:0000922)				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(8)|large_intestine(12)|lung(20)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	72	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217)		ATCTGACACGGACGTAAGTAA	0.368																																						ENST00000333479.7																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(8)|large_intestine(12)|lung(20)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	72						c.(2380-2382)Gac>Aac		kinetochore associated 1							80	72	75					12																	123058925		1887	4117	6004	SO:0001583	missense	9735				cell division|mitotic cell cycle checkpoint|mitotic prometaphase|protein complex assembly|regulation of exit from mitosis	condensed chromosome kinetochore|cytosol|kinetochore microtubule|nucleus|spindle pole	protein binding	g.chr12:123058925G>A		CCDS45002.1	12q24.31	2013-01-17			ENSG00000184445	ENSG00000184445			17255	protein-coding gene	gene with protein product	"rough deal homolog (Drosophila)"	607363				11146660, 11590237	Standard	NM_014708		Approved	KIAA0166, ROD	uc001ucv.3	P50748	OTTHUMG00000168861	ENST00000333479.7:c.2380G>A	12.37:g.123058925G>A	ENSP00000328236:p.Asp794Asn					KNTC1_ENST00000450485.2_Missense_Mutation_p.D757N	p.D794N	NM_014708.4	NP_055523.1	P50748	KNTC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217)	27	2557	+	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		794					A7E2C4|B3KSG2	Missense_Mutation	SNP	ENST00000333479.7	37	c.2380G>A	CCDS45002.1	.	.	.	.	.	.	.	.	.	.	G	12.73	2.025294	0.35701	.	.	ENSG00000184445	ENST00000450485;ENST00000333479	T;T	0.26373	1.74;2.44	5.4	5.4	0.78164	.	0.000000	0.85682	D	0.000000	T	0.43590	0.1254	L	0.50919	1.6	0.80722	D	1	B;D	0.63880	0.288;0.993	B;P	0.59487	0.103;0.858	T	0.13522	-1.0506	10	0.44086	T	0.13	-13.3235	19.1725	0.93585	0.0:0.0:1.0:0.0	.	757;794	E7ES84;P50748	.;KNTC1_HUMAN	N	757;794	ENSP00000397992:D757N;ENSP00000328236:D794N	ENSP00000328236:D794N	D	+	1	0	KNTC1	121624878	1.000000	0.71417	0.759000	0.31340	0.065000	0.16274	6.203000	0.72137	2.530000	0.85305	0.563000	0.77884	GAC		0.368	KNTC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396110.2			4	13	0	0	0	1	0	4	13					A	123058925	G	A	123058925	3	1	435	1	0	0	0	0	1	0	0	0	8428	1174	41	3	2482	3	KNTC1	12	123058925	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	255120	123058925	10792970	5934	26859											
KNTC1	9735	broad.mit.edu	37	chr12	123060443	123060443	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aatctcttaaacaaggaaatAatggtaagtacactcttcga	17	11	6	7	1	2	0	0	0	2	0	4	2	2	1	0	2	2	2	0	2	8	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:123060443A>G	ENST00000333479.7	+	29	2760	c.2583A>G	c.(2581-2583)atA>atG	p.I861M	KNTC1_ENST00000450485.2_Intron	NM_014708.4	NP_055523.1	P50748	KNTC1_HUMAN	kinetochore associated 1	861					mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)|protein complex assembly (GO:0006461)|regulation of exit from mitosis (GO:0007096)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|kinetochore microtubule (GO:0005828)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle pole (GO:0000922)				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(8)|large_intestine(12)|lung(20)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	72	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217)		ACAAGGAAATAATGGTAAGTA	0.338																																						ENST00000333479.7																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(8)|large_intestine(12)|lung(20)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	72						c.(2581-2583)atA>atG		kinetochore associated 1							66	60	62					12																	123060443		1810	4072	5882	SO:0001583	missense	9735				cell division|mitotic cell cycle checkpoint|mitotic prometaphase|protein complex assembly|regulation of exit from mitosis	condensed chromosome kinetochore|cytosol|kinetochore microtubule|nucleus|spindle pole	protein binding	g.chr12:123060443A>G		CCDS45002.1	12q24.31	2013-01-17			ENSG00000184445	ENSG00000184445			17255	protein-coding gene	gene with protein product	"rough deal homolog (Drosophila)"	607363				11146660, 11590237	Standard	NM_014708		Approved	KIAA0166, ROD	uc001ucv.3	P50748	OTTHUMG00000168861	ENST00000333479.7:c.2583A>G	12.37:g.123060443A>G	ENSP00000328236:p.Ile861Met					KNTC1_ENST00000450485.2_Intron	p.I861M	NM_014708.4	NP_055523.1	P50748	KNTC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217)	29	2760	+	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		861					A7E2C4|B3KSG2	Missense_Mutation	SNP	ENST00000333479.7	37	c.2583A>G	CCDS45002.1	.	.	.	.	.	.	.	.	.	.	A	14.44	2.535022	0.45073	.	.	ENSG00000184445	ENST00000333479	T	0.17854	2.25	5.89	0.649	0.17806	.	0.152457	0.56097	D	0.000033	T	0.15522	0.0374	M	0.62723	1.935	0.80722	D	1	B	0.29270	0.24	B	0.26202	0.067	T	0.06807	-1.0806	10	0.29301	T	0.29	-20.166	9.327	0.37999	0.549:0.387:0.064:0.0	.	861	P50748	KNTC1_HUMAN	M	861	ENSP00000328236:I861M	ENSP00000328236:I861M	I	+	3	3	KNTC1	121626396	0.982000	0.34865	0.990000	0.47175	0.961000	0.63080	0.338000	0.19858	-0.120000	0.11809	0.533000	0.62120	ATA		0.338	KNTC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396110.2			8	12	0	0	0	1	0	8	12					G	123060443	A	G	123060443	3	3	435	1	0	0	0	0	1	0	0	0	8428	352	13	4	2693	4	KNTC1	12	123060443	Missense_Mutation	SNP	A	TCGA-XK-AAIW-01A-11D-A41K-08	1518	123060443	10791452	5935	26860											
GPR81	27198	broad.mit.edu	37	chr12	123214176	123214176	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggaaatagagtctagcagaCacgctgggcaggtagcatgt	13	7	14	7	1	1	2	0	0	1	2	1	3	1	3	0	3	2	5	0	3	4	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:123214176C>T	ENST00000436083.2	-	1	1214	c.711G>A	c.(709-711)gtG>gtA	p.V237V	HCAR1_ENST00000356987.2_Silent_p.V237V|HCAR1_ENST00000432564.1_Silent_p.V237V			Q9BXC0	HCAR1_HUMAN	hydroxycarboxylic acid receptor 1	237					response to estradiol (GO:0032355)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|breast(3)|endometrium(1)|kidney(1)|lung(1)|ovary(1)|pancreas(1)|skin(1)	10						GTCTAGCAGACACGCTGGGCA	0.582																																						ENST00000432564.1																			0				NS(1)|breast(3)|endometrium(1)|kidney(1)|lung(1)|ovary(1)|pancreas(1)|skin(1)	10						c.(709-711)gtG>gtA		hydroxycarboxylic acid receptor 1							70	64	66					12																	123214176		2203	4300	6503	SO:0001819	synonymous_variant	27198				response to estradiol stimulus	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr12:123214176C>T	AF411110	CCDS9236.1	12q24.31	2012-08-08	2011-05-30	2011-05-30	ENSG00000196917	ENSG00000196917		"GPCR / Class A : Hydroxy-carboxylic acid receptors"	4532	protein-coding gene	gene with protein product	"lactate receptor 1"	606923	"G protein-coupled receptor 104", "G protein-coupled receptor 81"	GPR104, GPR81		11574155, 19047060, 18952058, 21454438	Standard	NM_032554		Approved	HCA1, FKSG80, TA-GPCR, LACR1	uc001ucz.3	Q9BXC0		ENST00000436083.2:c.711G>A	12.37:g.123214176C>T						HCAR1_ENST00000436083.2_Silent_p.V237V|HCAR1_ENST00000356987.2_Silent_p.V237V	p.V237V	NM_032554.3	NP_115943.1	Q9BXC0	HCAR1_HUMAN			1	953	-			237					B2R9X4|Q3Y5J3|Q4VBN1|Q6NXU5	Silent	SNP	ENST00000436083.2	37	c.711G>A	CCDS9236.1																																																																																				0.582	HCAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401415.1			8	38	0	0	0	1	0	8	38					T	123214176	C	T	123214176	2	4	435	1	0	0	0	0	0	0	0	1	6711	465	17	3		3	GPR81	12	123214176	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	153733	123214176	10637719	5936	26861											
PITPNM2	57605	broad.mit.edu	37	chr12	123472782	123472782	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgcccgggggaccctcaccCgcagcttcacgtgggtccgc	4	5	14	18	5	2	0	2	0	0	0	3	1	3	1	4	3	1	2	4	3	0	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:123472782C>T	ENST00000542749.1	-	18	3059	c.2996G>A	c.(2995-2997)cGg>cAg	p.R999Q	PITPNM2_ENST00000320201.4_Splice_Site_p.R999Q|PITPNM2_ENST00000280562.5_Splice_Site_p.R993Q|PITPNM2_ENST00000392428.1_Splice_Site_p.R720Q			Q9BZ72	PITM2_HUMAN	phosphatidylinositol transfer protein, membrane-associated 2	999					metabolic process (GO:0008152)|transport (GO:0006810)	integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)	calcium ion binding (GO:0005509)|lipid binding (GO:0008289)			NS(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	39	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.55e-05)|Epithelial(86;8.43e-05)|BRCA - Breast invasive adenocarcinoma(302;0.123)		GACCCTCACCCGCAGCTTCAC	0.622																																						ENST00000280562.5																			0				NS(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	39						c.e19+1		phosphatidylinositol transfer protein, membrane-associated 2							64	69	67					12																	123472782		2203	4300	6503	SO:0001630	splice_region_variant	57605				metabolic process|transport	endomembrane system|integral to membrane|intracellular membrane-bounded organelle	calcium ion binding|lipid binding	g.chr12:123472782C>T	AF334585	CCDS9242.1, CCDS73543.1	12q24.31	2008-02-05				ENSG00000090975			21044	protein-coding gene	gene with protein product		608920				10022914	Standard	XM_005253582		Approved	RDGBA2, RDGB2, NIR3	uc001uej.1	Q9BZ72		ENST00000542749.1:c.2997+1G>A	12.37:g.123472782C>T						PITPNM2_ENST00000392428.1_Splice_Site_p.R720_splice|PITPNM2_ENST00000320201.4_Splice_Site_p.R999_splice|PITPNM2_ENST00000542749.1_Splice_Site_p.R999_splice	p.R993_splice			Q9BZ72	PITM2_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;2.55e-05)|Epithelial(86;8.43e-05)|BRCA - Breast invasive adenocarcinoma(302;0.123)	19	3183	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		0					Q9P271	Splice_Site	SNP	ENST00000542749.1	37	c.2979_splice	CCDS9242.1	.	.	.	.	.	.	.	.	.	.	C	37	6.245880	0.97408	.	.	ENSG00000090975	ENST00000280562;ENST00000320201;ENST00000392428;ENST00000542749	T;T;T;T	0.48522	1.14;1.14;0.81;1.14	5.21	5.21	0.72293	.	0.000000	0.85682	D	0.000000	T	0.67487	0.2898	M	0.70787	2.145	0.80722	D	1	D;D	0.89917	0.994;1.0	P;D	0.64144	0.78;0.922	T	0.69595	-0.5103	10	0.62326	D	0.03	-39.9801	18.9357	0.92584	0.0:1.0:0.0:0.0	.	993;999	Q9BZ72-2;Q9BZ72	.;PITM2_HUMAN	Q	993;999;720;999	ENSP00000280562:R993Q;ENSP00000322218:R999Q;ENSP00000376223:R720Q;ENSP00000437611:R999Q	ENSP00000280562:R993Q	R	-	2	0	PITPNM2	122038735	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.272000	0.78516	2.717000	0.92951	0.484000	0.47621	CGG		0.622	PITPNM2-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401342.1	NM_020845	Missense_Mutation	34	60	0	0	0	1	0	34	60					T	123472782	C	T	123472782	5	4	435	1	0	0	0	0	0	0	1	0	11951	666	23	2	1081	2	PITPNM2	12	123472782	Splice_Site	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	258606	123472782	10379113	5937	26862											
PITPNM2	57605	broad.mit.edu	37	chr12	123481945	123481945	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatggcaaggcggcccagggCgctggggtagtgcacgcgca	7	4	19	11	4	0	0	0	0	0	0	0	1	0	0	1	6	1	5	1	6	2	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:123481945C>T	ENST00000542749.1	-	9	1462	c.1399G>A	c.(1399-1401)Gcc>Acc	p.A467T	PITPNM2_ENST00000320201.4_Missense_Mutation_p.A467T|PITPNM2_ENST00000451868.2_5'Flank|PITPNM2_ENST00000280562.5_Missense_Mutation_p.A467T|PITPNM2_ENST00000392428.1_Missense_Mutation_p.A188T			Q9BZ72	PITM2_HUMAN	phosphatidylinositol transfer protein, membrane-associated 2	467					metabolic process (GO:0008152)|transport (GO:0006810)	integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)	calcium ion binding (GO:0005509)|lipid binding (GO:0008289)			NS(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	39	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.55e-05)|Epithelial(86;8.43e-05)|BRCA - Breast invasive adenocarcinoma(302;0.123)		CGGCCCAGGGCGCTGGGGTAG	0.657																																						ENST00000280562.5																			0				NS(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	39						c.(1399-1401)Gcc>Acc		phosphatidylinositol transfer protein, membrane-associated 2							96	92	93					12																	123481945		2203	4300	6503	SO:0001583	missense	57605				metabolic process|transport	endomembrane system|integral to membrane|intracellular membrane-bounded organelle	calcium ion binding|lipid binding	g.chr12:123481945C>T	AF334585	CCDS9242.1, CCDS73543.1	12q24.31	2008-02-05				ENSG00000090975			21044	protein-coding gene	gene with protein product		608920				10022914	Standard	XM_005253582		Approved	RDGBA2, RDGB2, NIR3	uc001uej.1	Q9BZ72		ENST00000542749.1:c.1399G>A	12.37:g.123481945C>T	ENSP00000437611:p.Ala467Thr					PITPNM2_ENST00000392428.1_Missense_Mutation_p.A188T|PITPNM2_ENST00000320201.4_Missense_Mutation_p.A467T|PITPNM2_ENST00000542749.1_Missense_Mutation_p.A467T	p.A467T			Q9BZ72	PITM2_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;2.55e-05)|Epithelial(86;8.43e-05)|BRCA - Breast invasive adenocarcinoma(302;0.123)	10	1604	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		467					Q9P271	Missense_Mutation	SNP	ENST00000542749.1	37	c.1399G>A	CCDS9242.1	.	.	.	.	.	.	.	.	.	.	c	19.44	3.827759	0.71143	.	.	ENSG00000090975	ENST00000280562;ENST00000320201;ENST00000392428;ENST00000542749	T;T;T;T	0.20463	2.07;2.07;2.07;2.07	4.83	3.95	0.45737	.	0.068580	0.64402	N	0.000019	T	0.26521	0.0648	M	0.77313	2.365	0.48632	D	0.999688	B;B	0.32543	0.375;0.04	B;B	0.33690	0.168;0.01	T	0.04140	-1.0974	10	0.21540	T	0.41	-27.8049	13.2926	0.60278	0.0:0.9234:0.0:0.0766	.	467;467	Q9BZ72-2;Q9BZ72	.;PITM2_HUMAN	T	467;467;188;467	ENSP00000280562:A467T;ENSP00000322218:A467T;ENSP00000376223:A188T;ENSP00000437611:A467T	ENSP00000280562:A467T	A	-	1	0	PITPNM2	122047898	0.998000	0.40836	1.000000	0.80357	0.922000	0.55478	3.967000	0.56802	1.051000	0.40369	-0.213000	0.12676	GCC		0.657	PITPNM2-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401342.1	NM_020845		31	44	0	0	0	1	0	31	44					T	123481945	C	T	123481945	3	4	435	1	0	0	0	0	1	0	0	0	11951	768	27	1	2714	1	PITPNM2	12	123481945	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	9163	123481945	10369950	5938	26863											
MPHOSPH9	10198	broad.mit.edu	37	chr12	123650019	123650019	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aatccttttccagaggtgaaCggtgccttaaacaataattt	13	13	7	8	1	0	2	0	1	0	1	2	2	2	2	3	2	3	0	3	2	6	5	rs201725214		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:123650019C>T	ENST00000606320.1	-	18	2803	c.2597G>A	c.(2596-2598)cGt>cAt	p.R866H	MPHOSPH9_ENST00000392425.3_Missense_Mutation_p.R714H|MPHOSPH9_ENST00000541076.2_Missense_Mutation_p.R836H|MPHOSPH9_ENST00000302349.5_Missense_Mutation_p.R714H			Q99550	MPP9_HUMAN	M-phase phosphoprotein 9	866						centriole (GO:0005814)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|plasma membrane (GO:0005886)				NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(18)|prostate(2)|skin(1)	33	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000182)|Epithelial(86;0.00046)|BRCA - Breast invasive adenocarcinoma(302;0.169)		CAGAGGTGAACGGTGCCTTAA	0.423																																						ENST00000606320.1																			0				NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(18)|prostate(2)|skin(1)	33						c.(2596-2598)cGt>cAt		M-phase phosphoprotein 9							92	89	90					12																	123650019		2203	4300	6503	SO:0001583	missense	10198				M phase of mitotic cell cycle	centriole|Golgi membrane		g.chr12:123650019C>T	X98258	CCDS9243.1, CCDS9243.2	12q24	2008-03-03			ENSG00000051825	ENSG00000051825			7215	protein-coding gene	gene with protein product		605501				8885239	Standard	NM_022782		Approved	MPP9	uc001uel.3	Q99550	OTTHUMG00000168849	ENST00000606320.1:c.2597G>A	12.37:g.123650019C>T	ENSP00000475489:p.Arg866His					MPHOSPH9_ENST00000392425.3_Missense_Mutation_p.R714H|MPHOSPH9_ENST00000302349.5_Missense_Mutation_p.R714H|MPHOSPH9_ENST00000541076.2_Missense_Mutation_p.R836H	p.R866H			Q99550	MPP9_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000182)|Epithelial(86;0.00046)|BRCA - Breast invasive adenocarcinoma(302;0.169)	18	2803	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		714					A1L486|A6NEE2|B3KR87|Q9H976|U3KQ28	Missense_Mutation	SNP	ENST00000606320.1	37	c.2597G>A		.	.	.	.	.	.	.	.	.	.	C	0.009	-1.808292	0.00606	.	.	ENSG00000051825	ENST00000302349;ENST00000541076	T;T	0.28454	1.61;1.62	5.95	-2.4	0.06583	.	0.782722	0.12413	N	0.471098	T	0.04048	0.0113	N	0.00128	-2.045	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.34129	-0.9841	10	0.05351	T	0.99	0.2431	3.8468	0.08937	0.2427:0.2816:0.0:0.4757	.	714	Q99550	MPP9_HUMAN	H	714	ENSP00000303597:R714H;ENSP00000445859:R714H	ENSP00000303597:R714H	R	-	2	0	MPHOSPH9	122215972	1.000000	0.71417	0.002000	0.10522	0.061000	0.15899	0.636000	0.24644	-0.673000	0.05259	-0.983000	0.02560	CGT		0.423	MPHOSPH9-030	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000471390.2			5	74	0	0	0	1	0	5	74					T	123650019	C	T	123650019	3	4	435	1	0	0	0	0	1	0	0	0	9728	536	19	1	982	1	MPHOSPH9	12	123650019	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	168074	123650019	10201876	5939	26864											
SBNO1	55206	broad.mit.edu	37	chr12	123782717	123782717	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcttttttgcaattgccgcGcctaagaaaaatgggaaaga	13	11	10	7	2	0	2	0	0	0	2	0	3	0	3	2	1	3	2	2	1	5	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:123782717G>A	ENST00000602398.1	-	31	3974	c.3847C>T	c.(3847-3849)Cgc>Tgc	p.R1283C	SBNO1_ENST00000267176.4_Splice_Site_p.R1282C|SBNO1_ENST00000420886.2_Splice_Site_p.R1283C|SBNO1_ENST00000602750.1_Splice_Site_p.R1282C			A3KN83	SBNO1_HUMAN	strawberry notch homolog 1 (Drosophila)	1283					regulation of transcription, DNA-templated (GO:0006355)					NS(2)|breast(6)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(11)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(2)	62	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197)		CAATTGCCGCGCCTAAGAAAA	0.378																																						ENST00000420886.2																			0				NS(2)|breast(6)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(11)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(2)	62						c.e30-1		strawberry notch homolog 1 (Drosophila)							60	56	57					12																	123782717		2203	4300	6503	SO:0001630	splice_region_variant	55206						ATP binding|DNA binding|hydrolase activity	g.chr12:123782717G>A	AK001563	CCDS9246.1, CCDS53844.1	12q24.31	2006-10-06	2006-10-06			ENSG00000139697			22973	protein-coding gene	gene with protein product		614274	"sno, strawberry notch homolog 1 (Drosophila)"				Standard	NM_018183		Approved	MOP3, FLJ10701, FLJ10833, Sno	uc010tap.2	A3KN83		ENST00000602398.1:c.3846-1C>T	12.37:g.123782717G>A						SBNO1_ENST00000267176.4_Splice_Site_p.R1282_splice|SBNO1_ENST00000602398.1_Splice_Site_p.R1283_splice|SBNO1_ENST00000602750.1_Splice_Site_p.R1282_splice	p.R1283_splice	NM_001167856.1	NP_001161328.1	A3KN83	SBNO1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197)	30	3846	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		1283					Q05C06|Q3ZTS3|Q9H3T8|Q9NVB2	Splice_Site	SNP	ENST00000602398.1	37	c.3845_splice	CCDS53844.1	.	.	.	.	.	.	.	.	.	.	G	16.19	3.052736	0.55218	.	.	ENSG00000139697	ENST00000420886;ENST00000267176	D;D	0.83075	-1.68;-1.68	5.73	4.79	0.61399	.	0.223447	0.34725	N	0.003723	D	0.87849	0.6281	L	0.46157	1.445	0.58432	D	0.999997	D;D	0.89917	1.0;1.0	D;D	0.79108	0.982;0.992	D	0.87296	0.2302	10	0.51188	T	0.08	-4.7158	15.8552	0.78972	0.0:0.0:0.8141:0.1858	.	1283;1282	A3KN83;A3KN83-2	SBNO1_HUMAN;.	C	1283;1282	ENSP00000387361:R1283C;ENSP00000267176:R1282C	ENSP00000267176:R1282C	R	-	1	0	SBNO1	122348670	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	3.851000	0.55926	2.880000	0.98712	0.650000	0.86243	CGC		0.378	SBNO1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000467684.1	NM_018183	Missense_Mutation	11	40	0	0	0	1	0	11	40					A	123782717	G	A	123782717	5	1	435	1	0	0	0	0	0	0	1	0	13862	1101	38	1	342	1	SBNO1	12	123782717	Splice_Site	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	132698	123782717	10069178	5940	26865											
SBNO1	55206	broad.mit.edu	37	chr12	123830009	123830009	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttagttaaagtgatggtttGcctgttggttgttacaggtg	7	17	13	4	0	0	1	0	1	0	0	0	1	0	1	1	3	2	5	1	3	4	6			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:123830009G>A	ENST00000602398.1	-	4	473	c.346C>T	c.(346-348)Caa>Taa	p.Q116*	SBNO1_ENST00000267176.4_Nonsense_Mutation_p.Q115*|SBNO1_ENST00000420886.2_Nonsense_Mutation_p.Q116*|SBNO1_ENST00000602750.1_Nonsense_Mutation_p.Q115*			A3KN83	SBNO1_HUMAN	strawberry notch homolog 1 (Drosophila)	116					regulation of transcription, DNA-templated (GO:0006355)					NS(2)|breast(6)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(11)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(2)	62	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197)		GTGATGGTTTGCCTGTTGGTT	0.423																																						ENST00000420886.2																			0				NS(2)|breast(6)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(11)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(2)	62						c.(346-348)Caa>Taa		strawberry notch homolog 1 (Drosophila)							289	247	261					12																	123830009		2203	4300	6503	SO:0001587	stop_gained	55206						ATP binding|DNA binding|hydrolase activity	g.chr12:123830009G>A	AK001563	CCDS9246.1, CCDS53844.1	12q24.31	2006-10-06	2006-10-06			ENSG00000139697			22973	protein-coding gene	gene with protein product		614274	"sno, strawberry notch homolog 1 (Drosophila)"				Standard	NM_018183		Approved	MOP3, FLJ10701, FLJ10833, Sno	uc010tap.2	A3KN83		ENST00000602398.1:c.346C>T	12.37:g.123830009G>A	ENSP00000473665:p.Gln116*					SBNO1_ENST00000267176.4_Nonsense_Mutation_p.Q115*|SBNO1_ENST00000602398.1_Nonsense_Mutation_p.Q116*|SBNO1_ENST00000602750.1_Nonsense_Mutation_p.Q115*	p.Q116*	NM_001167856.1	NP_001161328.1	A3KN83	SBNO1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197)	3	345	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		116					Q05C06|Q3ZTS3|Q9H3T8|Q9NVB2	Nonsense_Mutation	SNP	ENST00000602398.1	37	c.346C>T	CCDS53844.1	.	.	.	.	.	.	.	.	.	.	G	36	5.872802	0.97049	.	.	ENSG00000139697	ENST00000420886;ENST00000267176;ENST00000442601	.	.	.	5.74	5.74	0.90152	.	0.061068	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05721	T	0.95	-17.7745	18.1163	0.89556	0.0:0.0:1.0:0.0	.	.	.	.	X	116;115;115	.	ENSP00000267176:Q115X	Q	-	1	0	SBNO1	122395962	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	9.035000	0.93752	2.715000	0.92844	0.655000	0.94253	CAA		0.423	SBNO1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000467684.1	NM_018183		23	44	0	0	0	1	0	23	44					A	123830009	G	A	123830009	4	1	435	1	0	0	0	0	0	1	0	0	13862	1328	46	3	3951	3	SBNO1	12	123830009	Nonsense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	47292	123830009	10021886	5941	26866											
EIF2B1	1967	broad.mit.edu	37	chr12	124106308	124106308	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaagggctcacaggttacaGatagagcttgatgagctcat	13	9	12	7	0	2	4	2	2	0	2	2	5	2	4	0	2	3	4	0	2	3	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:124106308G>T	ENST00000424014.2	-	9	1121	c.913C>A	c.(913-915)Ctg>Atg	p.L305M	EIF2B1_ENST00000539951.1_3'UTR	NM_001414.3	NP_001405.1	Q14232	EI2BA_HUMAN	eukaryotic translation initiation factor 2B, subunit 1 alpha, 26kDa	305					cellular protein metabolic process (GO:0044267)|cellular response to stimulus (GO:0051716)|gene expression (GO:0010467)|negative regulation of translational initiation in response to stress (GO:0032057)|oligodendrocyte development (GO:0014003)|positive regulation of GTPase activity (GO:0043547)|regulation of translational initiation (GO:0006446)|response to glucose (GO:0009749)|response to heat (GO:0009408)|response to peptide hormone (GO:0043434)|translation (GO:0006412)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|eukaryotic translation initiation factor 2B complex (GO:0005851)|membrane (GO:0016020)|plasma membrane (GO:0005886)	enzyme regulator activity (GO:0030234)|GDP binding (GO:0019003)|GTP binding (GO:0005525)|translation initiation factor activity (GO:0003743)			breast(1)|kidney(3)|large_intestine(2)|lung(3)|urinary_tract(1)	10	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.67e-05)|Epithelial(86;0.000353)|all cancers(50;0.00489)		ACAGGTTACAGATAGAGCTTG	0.542																																						ENST00000424014.2																			0				breast(1)|kidney(3)|large_intestine(2)|lung(3)|urinary_tract(1)	10						c.(913-915)Ctg>Atg		eukaryotic translation initiation factor 2B, subunit 1 alpha, 26kDa							94	71	79					12																	124106308		2203	4300	6503	SO:0001583	missense	1967				cellular response to stimulus|oligodendrocyte development|regulation of translational initiation|response to glucose stimulus|response to heat|response to peptide hormone stimulus	cytosol|eukaryotic translation initiation factor 2B complex|membrane fraction|plasma membrane	protein binding|translation initiation factor activity	g.chr12:124106308G>T	X95648	CCDS31924.1	12q24.3	1998-10-16	2002-08-29		ENSG00000111361	ENSG00000111361			3257	protein-coding gene	gene with protein product		606686	"eukaryotic translation initiation factor 2B, subunit 1 (alpha, 26kD)"	EIF2B			Standard	NM_001414		Approved	EIF-2Balpha, EIF-2B, EIF2BA	uc001ufm.3	Q14232	OTTHUMG00000168696	ENST00000424014.2:c.913C>A	12.37:g.124106308G>T	ENSP00000416250:p.Leu305Met					EIF2B1_ENST00000539951.1_3'UTR	p.L305M	NM_001414.3	NP_001405.1	Q14232	EI2BA_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;6.67e-05)|Epithelial(86;0.000353)|all cancers(50;0.00489)	9	1121	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		305					A6NLY9|B4DGX0|Q3SXP4	Missense_Mutation	SNP	ENST00000424014.2	37	c.913C>A	CCDS31924.1	.	.	.	.	.	.	.	.	.	.	G	16.42	3.117508	0.56505	.	.	ENSG00000111361	ENST00000424014;ENST00000228958	D;D	0.91792	-2.89;-2.91	6.17	5.28	0.74379	.	0.000000	0.85682	D	0.000000	D	0.92011	0.7469	L	0.57536	1.79	0.80722	D	1	P	0.43094	0.799	P	0.47705	0.555	D	0.90024	0.4130	10	0.41790	T	0.15	.	12.5606	0.56279	0.1892:0.0:0.8108:0.0	.	305	Q14232	EI2BA_HUMAN	M	305;303	ENSP00000416250:L305M;ENSP00000228958:L303M	ENSP00000228958:L303M	L	-	1	2	EIF2B1	122672261	0.981000	0.34729	0.021000	0.16686	0.409000	0.31022	1.991000	0.40727	0.953000	0.37825	-0.797000	0.03246	CTG		0.542	EIF2B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400628.1	NM_001414		15	20	1	0	5.03518e-11	1	5.40566e-11	15	20					T	124106308	G	T	124106308	3	4	435	1	0	0	0	0	1	0	0	0	5000	933	33	5	8	5	EIF2B1	12	124106308	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	276299	124106308	9745587	5942	26867											
TCTN2	79867	broad.mit.edu	37	chr12	124191586	124191586	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agaaatgaggtgtgttggccGcagcttctatatccatggac	10	11	12	8	1	1	2	0	1	1	1	2	3	2	3	2	3	1	3	2	3	3	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:124191586G>A	ENST00000303372.5	+	17	2078	c.1950G>A	c.(1948-1950)ccG>ccA	p.P650P	TCTN2_ENST00000426174.2_Silent_p.P649P|RP11-338K17.8_ENST00000538837.1_lincRNA	NM_001143850.2|NM_024809.4	NP_001137322.1|NP_079085.2	Q96GX1	TECT2_HUMAN	tectonic family member 2	650					cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|smoothened signaling pathway (GO:0007224)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|TCTN-B9D complex (GO:0036038)				breast(2)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000163)|Epithelial(86;0.000502)|all cancers(50;0.00451)		TGTGTTGGCCGCAGCTTCTAT	0.328																																						ENST00000303372.5																			0				breast(2)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30						c.(1948-1950)ccG>ccA		tectonic family member 2							94	95	95					12																	124191586		2203	4300	6503	SO:0001819	synonymous_variant	79867				cilium assembly|smoothened signaling pathway	integral to membrane		g.chr12:124191586G>A	AK056924	CCDS9253.1, CCDS45007.1	12q24.31	2011-04-12	2007-08-20	2007-08-20	ENSG00000168778	ENSG00000168778		"Tectonic proteins"	25774	protein-coding gene	gene with protein product	"Meckel syndrome, type 8"	613846	"chromosome 12 open reading frame 38"	C12orf38		21462283	Standard	NM_024809		Approved	FLJ12975, TECT2, MKS8	uc001ufp.3	Q96GX1	OTTHUMG00000168700	ENST00000303372.5:c.1950G>A	12.37:g.124191586G>A						TCTN2_ENST00000426174.2_Silent_p.P649P	p.P650P	NM_001143850.2|NM_024809.4	NP_001137322.1|NP_079085.2	Q96GX1	TECT2_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000163)|Epithelial(86;0.000502)|all cancers(50;0.00451)	17	2078	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		650					A8K7Y8|B3KPW5|Q9H966	Silent	SNP	ENST00000303372.5	37	c.1950G>A	CCDS9253.1																																																																																				0.328	TCTN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000400652.1	NM_024809		21	25	0	0	0	1	0	21	25					A	124191586	G	A	124191586	2	1	435	1	0	0	0	0	0	0	0	1	15720	1074	38	1		1	TCTN2	12	124191586	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	85278	124191586	9660309	5943	26868											
ATP6V0A2	23545	broad.mit.edu	37	chr12	124241427	124241427	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgttgacaccacctatggcGtcttgctactgctcccggtt	5	12	10	14	3	1	1	0	1	1	0	2	1	2	1	3	2	3	4	3	2	2	5	rs374221951		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:124241427G>A	ENST00000330342.3	+	19	2607	c.2359G>A	c.(2359-2361)Gtc>Atc	p.V787I	ATP6V0A2_ENST00000544833.1_Missense_Mutation_p.V69I|ATP6V0A2_ENST00000543687.1_3'UTR	NM_012463.3	NP_036595.2	Q9Y487	VPP2_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit a2	787					ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|immune response (GO:0006955)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	acrosomal vesicle (GO:0001669)|cytoplasm (GO:0005737)|endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)|vacuolar proton-transporting V-type ATPase, V0 domain (GO:0000220)	hydrogen ion transmembrane transporter activity (GO:0015078)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|liver(1)|lung(10)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	26	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000224)|Epithelial(86;0.000625)|all cancers(50;0.00775)		CACCTATGGCGTCTTGCTACT	0.552																																						ENST00000330342.3																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|liver(1)|lung(10)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	26						c.(2359-2361)Gtc>Atc		ATPase, H+ transporting, lysosomal V0 subunit a2		G	ILE/VAL	1,4405	2.1+/-5.4	0,1,2202	230	177	195		2359	4.8	0.6	12		195	0,8600		0,0,4300	no	missense	ATP6V0A2	NM_012463.3	29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	possibly-damaging	787/857	124241427	1,13005	2203	4300	6503	SO:0001583	missense	23545				ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|immune response|insulin receptor signaling pathway|transferrin transport	endosome membrane|integral to membrane|plasma membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	hydrogen ion transmembrane transporter activity|protein binding	g.chr12:124241427G>A	AF112972	CCDS9254.1	12q24.31	2010-04-21	2006-01-20		ENSG00000185344	ENSG00000185344		"ATPases / V-type"	18481	protein-coding gene	gene with protein product	"infantile malignant osteopetrosis"	611716	"infantile malignant osteopetrosis", "ATPase, H+ transporting, lysosomal V0 subunit a isoform 2", "ATPase, H+ transporting, lysosomal V0 subunit A2"			2247090, 18157129	Standard	NM_012463		Approved	TJ6, a2, TJ6s, TJ6M, ATP6a2, J6B7, ATP6N1D, Vph1, Stv1	uc001ufr.3	Q9Y487	OTTHUMG00000168723	ENST00000330342.3:c.2359G>A	12.37:g.124241427G>A	ENSP00000332247:p.Val787Ile					ATP6V0A2_ENST00000543687.1_3'UTR|ATP6V0A2_ENST00000544833.1_Missense_Mutation_p.V69I	p.V787I	NM_012463.3	NP_036595.2	Q9Y487	VPP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000224)|Epithelial(86;0.000625)|all cancers(50;0.00775)	19	2607	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		787					A8K026|Q6NUM0	Missense_Mutation	SNP	ENST00000330342.3	37	c.2359G>A	CCDS9254.1	.	.	.	.	.	.	.	.	.	.	G	0.927	-0.714059	0.03206	2.27E-4	0.0	ENSG00000185344	ENST00000330342;ENST00000534943;ENST00000544833	D;D;D	0.87412	-2.25;-2.25;-2.25	5.71	4.82	0.62117	.	0.160189	0.56097	D	0.000031	T	0.77824	0.4188	N	0.25426	0.745	0.36556	D	0.872154	P	0.35959	0.53	B	0.34180	0.177	T	0.77824	-0.2444	10	0.21540	T	0.41	-31.9288	11.7064	0.51599	0.1411:0.0:0.8589:0.0	.	787	Q9Y487	VPP2_HUMAN	I	787;67;69	ENSP00000332247:V787I;ENSP00000443726:V67I;ENSP00000441143:V69I	ENSP00000332247:V787I	V	+	1	0	ATP6V0A2	122807380	0.988000	0.35896	0.580000	0.28601	0.011000	0.07611	1.943000	0.40253	1.419000	0.47118	-0.136000	0.14681	GTC		0.552	ATP6V0A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400765.2	NM_012463		42	51	0	0	0	1	0	42	51					A	124241427	G	A	124241427	3	1	435	1	0	0	0	0	1	0	0	0	1169	1145	40	1	2433	1	ATP6V0A2	12	124241427	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	49841	124241427	9610468	5944	26869											
DNAH10	196385	broad.mit.edu	37	chr12	124268552	124268552	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aagaaatgcaaccttaagtgCgctgcatgaacaaacaaagc	18	6	8	9	1	0	2	0	1	0	1	0	2	0	2	1	0	7	3	1	0	7	1	rs566391168		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:124268552C>T	ENST00000409039.3	+	8	900	c.875C>T	c.(874-876)gCg>gTg	p.A292V		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	292	Stem. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		ACCTTAAGTGCGCTGCATGAA	0.443																																						ENST00000409039.3																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52						c.(874-876)gCg>gTg		dynein, axonemal, heavy chain 10							110	99	103					12																	124268552		2203	4300	6503	SO:0001583	missense	196385				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr12:124268552C>T	AJ132089	CCDS9255.2	12q24	2008-02-05	2006-09-04		ENSG00000197653	ENSG00000197653		"Axonemal dyneins"	2941	protein-coding gene	gene with protein product		605884	"dynein, axonemal, heavy polypeptide 10"				Standard	NM_207437		Approved	FLJ43808	uc001uft.4	Q8IVF4	OTTHUMG00000154477	ENST00000409039.3:c.875C>T	12.37:g.124268552C>T	ENSP00000386770:p.Ala292Val						p.A292V	NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)	8	900	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		292			Stem (By similarity).		C9JMF5|O95495|Q6ZUC9|Q6ZUP6|Q8N761	Missense_Mutation	SNP	ENST00000409039.3	37	c.875C>T	CCDS9255.2	.	.	.	.	.	.	.	.	.	.	C	16.13	3.036896	0.54896	.	.	ENSG00000197653	ENST00000409039	T	0.56275	0.47	5.86	5.86	0.93980	Dynein heavy chain, domain-1 (1);	0.172567	0.40818	N	0.001002	T	0.66237	0.2769	M	0.83692	2.655	0.35032	D	0.758911	D	0.60160	0.987	P	0.52823	0.71	T	0.71537	-0.4563	10	0.18710	T	0.47	.	16.4809	0.84157	0.1314:0.8686:0.0:0.0	.	292	Q8IVF4	DYH10_HUMAN	V	292	ENSP00000386770:A292V	ENSP00000386770:A292V	A	+	2	0	DNAH10	122834505	0.998000	0.40836	0.456000	0.27044	0.147000	0.21601	3.752000	0.55172	2.781000	0.95711	0.650000	0.86243	GCG		0.443	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335420.3			18	27	0	0	0	1	0	18	27					T	124268552	C	T	124268552	3	4	435	1	0	0	0	0	1	0	0	0	4598	768	27	1	905	1	DNAH10	12	124268552	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	27125	124268552	9583343	5945	26870											
DNAH10	196385	broad.mit.edu	37	chr12	124285893	124285893	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cataggaacgttaaacgatgCggagtctgtgcttctcaaag	12	10	11	8	3	2	0	1	0	2	0	3	3	2	2	0	2	4	2	0	2	5	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:124285893C>T	ENST00000409039.3	+	15	2199	c.2174C>T	c.(2173-2175)gCg>gTg	p.A725V		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	725	Stem. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		TTAAACGATGCGGAGTCTGTG	0.458																																						ENST00000409039.3																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52						c.(2173-2175)gCg>gTg		dynein, axonemal, heavy chain 10							276	237	250					12																	124285893		2203	4300	6503	SO:0001583	missense	196385				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr12:124285893C>T	AJ132089	CCDS9255.2	12q24	2008-02-05	2006-09-04		ENSG00000197653	ENSG00000197653		"Axonemal dyneins"	2941	protein-coding gene	gene with protein product		605884	"dynein, axonemal, heavy polypeptide 10"				Standard	NM_207437		Approved	FLJ43808	uc001uft.4	Q8IVF4	OTTHUMG00000154477	ENST00000409039.3:c.2174C>T	12.37:g.124285893C>T	ENSP00000386770:p.Ala725Val						p.A725V	NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)	15	2199	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		725			Stem (By similarity).		C9JMF5|O95495|Q6ZUC9|Q6ZUP6|Q8N761	Missense_Mutation	SNP	ENST00000409039.3	37	c.2174C>T	CCDS9255.2	.	.	.	.	.	.	.	.	.	.	C	9.527	1.109896	0.20714	.	.	ENSG00000197653	ENST00000409039	T	0.51325	0.71	5.49	5.49	0.81192	Dynein heavy chain, domain-1 (1);	0.098152	0.38897	N	0.001540	T	0.41696	0.1170	L	0.45581	1.43	0.45837	D	0.998703	P;P;P	0.43662	0.595;0.814;0.647	B;B;B	0.40782	0.335;0.34;0.252	T	0.38067	-0.9678	10	0.02654	T	1	.	19.3792	0.94525	0.0:1.0:0.0:0.0	.	725;600;725	Q8IVF4-2;C4IXU6;Q8IVF4	.;.;DYH10_HUMAN	V	725	ENSP00000386770:A725V	ENSP00000386770:A725V	A	+	2	0	DNAH10	122851846	1.000000	0.71417	0.763000	0.31416	0.012000	0.07955	5.332000	0.65911	2.571000	0.86741	0.655000	0.94253	GCG		0.458	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335420.3			7	185	0	0	0	1	0	7	185					T	124285893	C	T	124285893	3	4	435	1	0	0	0	0	1	0	0	0	4598	768	27	1	2232	1	DNAH10	12	124285893	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	17341	124285893	9566002	5946	26871											
ZNF664	144348	broad.mit.edu	37	chr12	124497032	124497032	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agttcatacaggtgagaaacCgtatgtctgtagtgagtgtg	11	12	13	5	1	2	2	1	2	1	1	2	3	2	2	1	1	2	3	1	1	4	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:124497032C>T	ENST00000539644.1	+	6	2171	c.341C>T	c.(340-342)cCg>cTg	p.P114L	ZNF664_ENST00000337815.4_Missense_Mutation_p.P114L|FAM101A_ENST00000545615.1_Intron|ZNF664_ENST00000538932.2_Missense_Mutation_p.P114L|ZNF664_ENST00000392404.3_Missense_Mutation_p.P114L			Q8N3J9	ZN664_HUMAN	zinc finger protein 664	114					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|large_intestine(5)|lung(6)|skin(1)	13	all_neural(191;0.101)|Medulloblastoma(191;0.163)			Epithelial(86;0.000239)|OV - Ovarian serous cystadenocarcinoma(86;0.000247)|all cancers(50;0.00155)|BRCA - Breast invasive adenocarcinoma(302;0.249)		GGTGAGAAACCGTATGTCTGT	0.443																																						ENST00000539644.1																			0				breast(1)|large_intestine(5)|lung(6)|skin(1)	13						c.(340-342)cCg>cTg		zinc finger protein 664							72	84	80					12																	124497032		2203	4300	6503	SO:0001583	missense	144348				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr12:124497032C>T		CCDS9257.1	12q24.31	2013-05-10			ENSG00000179195	ENSG00000179195		"Zinc fingers, C2H2-type"	25406	protein-coding gene	gene with protein product			"zinc finger protein 176"	ZNF176		12477932	Standard	NM_001204298		Approved	ZFOC1, DKFZp761B128	uc001uga.3	Q8N3J9	OTTHUMG00000168596	ENST00000539644.1:c.341C>T	12.37:g.124497032C>T	ENSP00000441405:p.Pro114Leu					ZNF664_ENST00000337815.4_Missense_Mutation_p.P114L|ZNF664_ENST00000538932.2_Missense_Mutation_p.P114L|RP11-522N14.1_ENST00000540762.1_RNA|ZNF664_ENST00000392404.3_Missense_Mutation_p.P114L	p.P114L			Q8N3J9	ZN664_HUMAN		Epithelial(86;0.000239)|OV - Ovarian serous cystadenocarcinoma(86;0.000247)|all cancers(50;0.00155)|BRCA - Breast invasive adenocarcinoma(302;0.249)	6	2171	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		114					B3KP97|Q15914|Q3ZCQ7	Missense_Mutation	SNP	ENST00000539644.1	37	c.341C>T	CCDS9257.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.363251	0.82353	.	.	ENSG00000179195	ENST00000539644;ENST00000392404;ENST00000538932;ENST00000337815;ENST00000535937	T;T;T;T	0.17054	2.3;2.3;2.3;2.3	4.25	4.25	0.50352	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.40064	N	0.001186	T	0.37999	0.1024	M	0.76938	2.355	0.58432	D	0.999998	D	0.76494	0.999	P	0.58577	0.841	T	0.32188	-0.9916	10	0.87932	D	0	-28.972	14.9673	0.71204	0.0:1.0:0.0:0.0	.	114	Q8N3J9	ZN664_HUMAN	L	114;114;114;114;52	ENSP00000441405:P114L;ENSP00000376205:P114L;ENSP00000440645:P114L;ENSP00000337320:P114L	ENSP00000337320:P114L	P	+	2	0	ZNF664	123062985	0.997000	0.39634	0.993000	0.49108	0.910000	0.53928	3.778000	0.55371	2.651000	0.90000	0.655000	0.94253	CCG		0.443	ZNF664-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400365.1	NM_152437		21	85	0	0	0	1	0	21	85					T	124497032	C	T	124497032	3	4	435	1	0	0	0	0	1	0	0	0	18069	652	23	2	343	2	ZNF664	12	124497032	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	211139	124497032	9354863	5947	26872											
NCOR2	9612	broad.mit.edu	37	chr12	124827614	124827614	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggccagggggatgtggctgcGatacaggtccacgccactca	8	6	15	12	2	1	0	1	0	0	0	2	2	2	1	3	5	2	1	3	5	1	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:124827614G>A	ENST00000405201.1	-	33	4873	c.4873C>T	c.(4873-4875)Cgc>Tgc	p.R1625C	NCOR2_ENST00000429285.2_Missense_Mutation_p.R1615C|NCOR2_ENST00000404121.2_Missense_Mutation_p.R1186C|NCOR2_ENST00000356219.3_Missense_Mutation_p.R1632C|NCOR2_ENST00000404621.1_Missense_Mutation_p.R1615C|NCOR2_ENST00000397355.1_Missense_Mutation_p.R1616C			Q9Y618	NCOR2_HUMAN	nuclear receptor corepressor 2	1633					cellular lipid metabolic process (GO:0044255)|gene expression (GO:0010467)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|regulation of cellular ketone metabolic process by negative regulation of transcription from RNA polymerase II promoter (GO:0072365)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	membrane (GO:0016020)|nuclear body (GO:0016604)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone deacetylase binding (GO:0042826)|Notch binding (GO:0005112)|protein N-terminus binding (GO:0047485)|transcription corepressor activity (GO:0003714)			breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		ATGTGGCTGCGATACAGGTCC	0.672																																						ENST00000356219.3																			0				breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						c.(4894-4896)Cgc>Tgc		nuclear receptor corepressor 2							36	44	42					12																	124827614		2146	4228	6374	SO:0001583	missense	9612				cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity	g.chr12:124827614G>A	U37146	CCDS41857.1, CCDS41858.1, CCDS41857.2, CCDS41858.2, CCDS55892.1	12q24	2010-06-10	2010-06-10		ENSG00000196498	ENSG00000196498			7673	protein-coding gene	gene with protein product		600848	"nuclear receptor co-repressor 2"			7566127, 8813722	Standard	NM_001077261		Approved	SMRT, SMRTE, TRAC-1, CTG26, TNRC14	uc010tbb.2	Q9Y618	OTTHUMG00000150455	ENST00000405201.1:c.4873C>T	12.37:g.124827614G>A	ENSP00000384018:p.Arg1625Cys					NCOR2_ENST00000404621.1_Missense_Mutation_p.R1615C|NCOR2_ENST00000429285.2_Missense_Mutation_p.R1615C|NCOR2_ENST00000405201.1_Missense_Mutation_p.R1625C|NCOR2_ENST00000404121.2_Missense_Mutation_p.R1186C|NCOR2_ENST00000397355.1_Missense_Mutation_p.R1616C	p.R1632C	NM_006312.5	NP_006303.4	Q9Y618	NCOR2_HUMAN		Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)	34	5049	-	all_neural(191;0.0804)|Medulloblastoma(191;0.163)		1633					O00613|O15416|O15421|Q13354|Q56D06|Q59GM0|Q9Y5U0	Missense_Mutation	SNP	ENST00000405201.1	37	c.4894C>T	CCDS41858.2	.	.	.	.	.	.	.	.	.	.	G	11.12	1.545928	0.27652	.	.	ENSG00000196498	ENST00000405201;ENST00000404621;ENST00000356219;ENST00000397355;ENST00000447011;ENST00000404121;ENST00000429285	T;T;T;T;T;T	0.54675	0.56;0.56;0.56;0.56;0.56;0.56	5.27	3.2	0.36748	.	0.000000	0.85682	D	0.000000	T	0.71829	0.3386	M	0.78637	2.42	0.54753	D	0.999989	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.997;0.993;0.997	T	0.77294	-0.2641	10	0.87932	D	0	-30.763	14.5575	0.68113	0.0:0.0:0.6314:0.3686	.	1615;1616;1625	C9J0Q5;C9J239;C9JFD3	.;.;.	C	1625;1615;1632;1616;1624;1186;1615	ENSP00000384018:R1625C;ENSP00000384202:R1615C;ENSP00000348551:R1632C;ENSP00000380513:R1616C;ENSP00000385618:R1186C;ENSP00000400281:R1615C	ENSP00000348551:R1632C	R	-	1	0	NCOR2	123393567	1.000000	0.71417	0.997000	0.53966	0.270000	0.26580	3.810000	0.55613	1.181000	0.42912	-0.181000	0.13052	CGC		0.672	NCOR2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318173.2	NM_006312		8	17	0	0	0	1	0	8	17					A	124827614	G	A	124827614	3	1	435	1	0	0	0	0	1	0	0	0	10236	1058	37	2	2731	2	NCOR2	12	124827614	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	330582	124827614	9024281	5948	26873											
NCOR2	9612	broad.mit.edu	37	chr12	124831384	124831384	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	cctcctgtgcctccacgtagGaccgagggatccctgccggg	5	7	13	16	3	0	0	0	0	0	0	3	3	3	2	7	3	2	1	7	3	1	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:124831384G>A	ENST00000405201.1	-	31	4085	c.4085C>T	c.(4084-4086)tCc>tTc	p.S1362F	NCOR2_ENST00000429285.2_Missense_Mutation_p.S1352F|NCOR2_ENST00000404121.2_Missense_Mutation_p.S923F|NCOR2_ENST00000356219.3_Missense_Mutation_p.S1369F|NCOR2_ENST00000404621.1_Missense_Mutation_p.S1352F|NCOR2_ENST00000397355.1_Missense_Mutation_p.S1353F			Q9Y618	NCOR2_HUMAN	nuclear receptor corepressor 2	1370					cellular lipid metabolic process (GO:0044255)|gene expression (GO:0010467)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|regulation of cellular ketone metabolic process by negative regulation of transcription from RNA polymerase II promoter (GO:0072365)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	membrane (GO:0016020)|nuclear body (GO:0016604)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone deacetylase binding (GO:0042826)|Notch binding (GO:0005112)|protein N-terminus binding (GO:0047485)|transcription corepressor activity (GO:0003714)			breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		CTCCACGTAGGACCGAGGGAT	0.687																																						ENST00000356219.3																			0				breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						c.(4105-4107)tCc>tTc		nuclear receptor corepressor 2							8	10	9					12																	124831384		2032	4151	6183	SO:0001583	missense	9612				cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity	g.chr12:124831384G>A	U37146	CCDS41857.1, CCDS41858.1, CCDS41857.2, CCDS41858.2, CCDS55892.1	12q24	2010-06-10	2010-06-10		ENSG00000196498	ENSG00000196498			7673	protein-coding gene	gene with protein product		600848	"nuclear receptor co-repressor 2"			7566127, 8813722	Standard	NM_001077261		Approved	SMRT, SMRTE, TRAC-1, CTG26, TNRC14	uc010tbb.2	Q9Y618	OTTHUMG00000150455	ENST00000405201.1:c.4085C>T	12.37:g.124831384G>A	ENSP00000384018:p.Ser1362Phe					NCOR2_ENST00000404621.1_Missense_Mutation_p.S1352F|NCOR2_ENST00000429285.2_Missense_Mutation_p.S1352F|NCOR2_ENST00000405201.1_Missense_Mutation_p.S1362F|NCOR2_ENST00000404121.2_Missense_Mutation_p.S923F|NCOR2_ENST00000397355.1_Missense_Mutation_p.S1353F	p.S1369F	NM_006312.5	NP_006303.4	Q9Y618	NCOR2_HUMAN		Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)	32	4261	-	all_neural(191;0.0804)|Medulloblastoma(191;0.163)		1370					O00613|O15416|O15421|Q13354|Q56D06|Q59GM0|Q9Y5U0	Missense_Mutation	SNP	ENST00000405201.1	37	c.4106C>T	CCDS41858.2	.	.	.	.	.	.	.	.	.	.	G	14.39	2.520582	0.44866	.	.	ENSG00000196498	ENST00000405201;ENST00000404621;ENST00000356219;ENST00000397355;ENST00000447011;ENST00000404121;ENST00000429285;ENST00000458234	T;T;T;T;T;T;T	0.45276	0.9;0.9;0.9;0.9;0.9;0.9;1.37	5.2	5.2	0.72013	.	0.000000	0.53938	D	0.000046	T	0.61337	0.2339	L	0.51422	1.61	0.44085	D	0.996849	D;D;D	0.76494	0.999;0.998;0.999	D;D;D	0.85130	0.997;0.991;0.996	T	0.64101	-0.6486	10	0.87932	D	0	-32.5464	18.7282	0.91722	0.0:0.0:1.0:0.0	.	1352;1353;1362	C9J0Q5;C9J239;C9JFD3	.;.;.	F	1362;1352;1369;1353;1361;923;1352;1370	ENSP00000384018:S1362F;ENSP00000384202:S1352F;ENSP00000348551:S1369F;ENSP00000380513:S1353F;ENSP00000385618:S923F;ENSP00000400281:S1352F;ENSP00000402808:S1370F	ENSP00000348551:S1369F	S	-	2	0	NCOR2	123397337	1.000000	0.71417	0.974000	0.42286	0.340000	0.28889	7.190000	0.77755	2.433000	0.82419	0.491000	0.48974	TCC		0.687	NCOR2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318173.2	NM_006312		5	3	0	0	0	1	0	5	3					A	124831384	G	A	124831384	3	1	435	1	0	0	0	0	1	0	0	0	10236	1174	41	3	3527	3	NCOR2	12	124831384	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	3770	124831384	9020511	5949	26874											
NCOR2	9612	broad.mit.edu	37	chr12	124857101	124857101	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttctgccctgtgtccttggcGgcctcagtgtgaggagaggg	4	11	16	10	1	2	2	1	1	1	1	3	3	3	2	3	4	1	0	3	4	0	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:124857101G>A	ENST00000405201.1	-	20	2274	c.2274C>T	c.(2272-2274)gcC>gcT	p.A758A	NCOR2_ENST00000429285.2_Silent_p.A740A|NCOR2_ENST00000404121.2_Silent_p.A311A|NCOR2_ENST00000356219.3_Silent_p.A758A|NCOR2_ENST00000404621.1_Silent_p.A740A|NCOR2_ENST00000397355.1_Silent_p.A741A			Q9Y618	NCOR2_HUMAN	nuclear receptor corepressor 2	758					cellular lipid metabolic process (GO:0044255)|gene expression (GO:0010467)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|regulation of cellular ketone metabolic process by negative regulation of transcription from RNA polymerase II promoter (GO:0072365)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	membrane (GO:0016020)|nuclear body (GO:0016604)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone deacetylase binding (GO:0042826)|Notch binding (GO:0005112)|protein N-terminus binding (GO:0047485)|transcription corepressor activity (GO:0003714)			breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		TGTCCTTGGCGGCCTCAGTGT	0.687																																						ENST00000356219.3																			0				breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						c.(2272-2274)gcC>gcT		nuclear receptor corepressor 2							49	54	52					12																	124857101		2066	4201	6267	SO:0001819	synonymous_variant	9612				cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity	g.chr12:124857101G>A	U37146	CCDS41857.1, CCDS41858.1, CCDS41857.2, CCDS41858.2, CCDS55892.1	12q24	2010-06-10	2010-06-10		ENSG00000196498	ENSG00000196498			7673	protein-coding gene	gene with protein product		600848	"nuclear receptor co-repressor 2"			7566127, 8813722	Standard	NM_001077261		Approved	SMRT, SMRTE, TRAC-1, CTG26, TNRC14	uc010tbb.2	Q9Y618	OTTHUMG00000150455	ENST00000405201.1:c.2274C>T	12.37:g.124857101G>A						NCOR2_ENST00000404621.1_Silent_p.A740A|NCOR2_ENST00000429285.2_Silent_p.A740A|NCOR2_ENST00000405201.1_Silent_p.A758A|NCOR2_ENST00000404121.2_Silent_p.A311A|NCOR2_ENST00000397355.1_Silent_p.A741A	p.A758A	NM_006312.5	NP_006303.4	Q9Y618	NCOR2_HUMAN		Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)	21	2429	-	all_neural(191;0.0804)|Medulloblastoma(191;0.163)		758					O00613|O15416|O15421|Q13354|Q56D06|Q59GM0|Q9Y5U0	Silent	SNP	ENST00000405201.1	37	c.2274C>T	CCDS41858.2																																																																																				0.687	NCOR2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318173.2	NM_006312		28	35	0	0	0	1	0	28	35					A	124857101	G	A	124857101	2	1	435	1	0	0	0	0	0	0	0	1	10236	1103	39	2		2	NCOR2	12	124857101	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	25717	124857101	8994794	5950	26875											
SCARB1	949	broad.mit.edu	37	chr12	125267257	125267257	+	Intron	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ttgcttcctgcagcacagagCccttgggagctgatgtcatc	7	11	11	12	0	1	2	1	1	0	1	3	3	2	3	2	1	5	4	2	1	0	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:125267257C>T	ENST00000415380.2	-	11	1777				SCARB1_ENST00000546215.1_Missense_Mutation_p.G473D|SCARB1_ENST00000376788.1_Missense_Mutation_p.G401D|SCARB1_ENST00000261693.6_Missense_Mutation_p.G501D|SCARB1_ENST00000535005.1_5'UTR|SCARB1_ENST00000339570.5_Intron			Q8WTV0	SCRB1_HUMAN	scavenger receptor class B, member 1						adhesion of symbiont to host (GO:0044406)|androgen biosynthetic process (GO:0006702)|blood vessel endothelial cell migration (GO:0043534)|cell adhesion (GO:0007155)|cholesterol catabolic process (GO:0006707)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol import (GO:0070508)|detection of lipopolysaccharide (GO:0032497)|endothelial cell proliferation (GO:0001935)|high-density lipoprotein particle clearance (GO:0034384)|high-density lipoprotein particle remodeling (GO:0034375)|lipopolysaccharide transport (GO:0015920)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|lipoprotein metabolic process (GO:0042157)|low-density lipoprotein particle clearance (GO:0034383)|phospholipid transport (GO:0015914)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of triglyceride biosynthetic process (GO:0010867)|receptor-mediated endocytosis (GO:0006898)|recognition of apoptotic cell (GO:0043654)|regulation of phagocytosis (GO:0050764)|regulation of phosphatidylcholine catabolic process (GO:0010899)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)|triglyceride homeostasis (GO:0070328)|viral process (GO:0016032)|wound healing (GO:0042060)	caveola (GO:0005901)|cell surface (GO:0009986)|endocytic vesicle membrane (GO:0030666)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|microvillus membrane (GO:0031528)|plasma membrane (GO:0005886)	1-phosphatidylinositol binding (GO:0005545)|apolipoprotein A-I binding (GO:0034186)|apolipoprotein binding (GO:0034185)|high-density lipoprotein particle binding (GO:0008035)|high-density lipoprotein particle receptor activity (GO:0070506)|lipopolysaccharide binding (GO:0001530)|lipopolysaccharide receptor activity (GO:0001875)|low-density lipoprotein particle binding (GO:0030169)|phosphatidylserine binding (GO:0001786)|transporter activity (GO:0005215)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(7)|prostate(1)	17	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000116)|Epithelial(86;0.000415)|all cancers(50;0.00395)	Phosphatidylserine(DB00144)	CAGCACAGAGCCCTTGGGAGC	0.498																																						ENST00000261693.6																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(7)|prostate(1)	17						c.(1501-1503)gGc>gAc		scavenger receptor class B, member 1	Phosphatidylserine(DB00144)						111	106	108					12																	125267257		2203	4300	6503	SO:0001627	intron_variant	949				adhesion to symbiont|cell adhesion|cholesterol efflux|cholesterol homeostasis|cholesterol import|detection of lipopolysaccharide|high-density lipoprotein particle clearance|high-density lipoprotein particle remodeling|lipopolysaccharide transport|lipoprotein metabolic process|positive regulation of cholesterol storage|positive regulation of endothelial cell migration|positive regulation of nitric-oxide synthase activity|recognition of apoptotic cell|reverse cholesterol transport|triglyceride homeostasis|wound healing	caveola	1-phosphatidylinositol binding|apolipoprotein A-I binding|high-density lipoprotein particle receptor activity|lipopolysaccharide receptor activity|low-density lipoprotein particle binding|phosphatidylserine binding|transporter activity	g.chr12:125267257C>T	Z22555	CCDS9259.1, CCDS45008.1	12q24.32	2008-08-05	2002-09-06	2002-09-06	ENSG00000073060	ENSG00000073060			1664	protein-coding gene	gene with protein product		601040	"CD36 antigen (collagen type I receptor, thrombospondin receptor)-like 1"	CD36L1		7689561	Standard	NM_001082959		Approved	SRB1, CLA-1, CLA1, SR-BI	uc001ugm.4	Q8WTV0	OTTHUMG00000168544	ENST00000415380.2:c.1651+3395G>A	12.37:g.125267257C>T						SCARB1_ENST00000546215.1_Missense_Mutation_p.G473D|SCARB1_ENST00000535005.1_5'UTR|SCARB1_ENST00000415380.2_Intron|SCARB1_ENST00000376788.1_Missense_Mutation_p.G401D|SCARB1_ENST00000339570.5_Intron	p.G501D	NM_005505.4	NP_005496.4	Q8WTV0	SCRB1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000116)|Epithelial(86;0.000415)|all cancers(50;0.00395)	12	1628	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		0					F8W8N0|Q14016|Q52LZ5|Q6KFX4	Missense_Mutation	SNP	ENST00000415380.2	37	c.1502G>A		.	.	.	.	.	.	.	.	.	.	C	24.8	4.571524	0.86542	.	.	ENSG00000073060	ENST00000261693;ENST00000376788;ENST00000546215	T;T;T	0.67171	0.09;-0.15;-0.25	5.18	5.18	0.71444	.	2.631330	0.01667	N	0.025424	D	0.84365	0.5456	M	0.70595	2.14	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	T	0.66948	-0.5794	10	0.49607	T	0.09	-24.1698	15.6156	0.76764	0.0:1.0:0.0:0.0	.	473;501	B7ZKQ9;Q8WTV0-2	.;.	D	501;401;473	ENSP00000261693:G501D;ENSP00000365984:G401D;ENSP00000442862:G473D	ENSP00000261693:G501D	G	-	2	0	SCARB1	123833210	0.994000	0.37717	0.965000	0.40720	0.996000	0.88848	4.098000	0.57748	2.422000	0.82143	0.561000	0.74099	GGC		0.498	SCARB1-006	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000400165.1	NM_005505		17	28	0	0	0	1	0	17	28					T	125267257	C	T	125267257	1	4	435	0	1	0	0	0	0	0	0	0	13881	739	26	3		3	SCARB1	12	125267257	Intron	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	410156	125267257	8584638	5951	26876											
DHX37	57647	broad.mit.edu	37	chr12	125449047	125449047	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gatacgccagtgacgcggtcGtagtagcgtttcttgacctt	7	12	12	10	5	1	2	0	2	1	0	2	3	1	2	2	1	2	3	2	1	3	6	rs561296913		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:125449047G>A	ENST00000308736.2	-	15	2036	c.1938C>T	c.(1936-1938)taC>taT	p.Y646Y	DHX37_ENST00000544745.1_Silent_p.Y433Y	NM_032656.3	NP_116045.2	Q8IY37	DHX37_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 37	646	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.						ATP binding (GO:0005524)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)			breast(5)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|liver(1)|lung(27)|ovary(1)|prostate(2)|skin(3)	65	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;8.05e-05)|Epithelial(86;0.000486)|all cancers(50;0.00653)		TGACGCGGTCGTAGTAGCGTT	0.617													G|||	1	0.000199681	0	0	5008	,	,		19521	0.001		0	False		,,,				2504	0					ENST00000308736.2																			0				breast(5)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|liver(1)|lung(27)|ovary(1)|prostate(2)|skin(3)	65						c.(1936-1938)taC>taT		DEAH (Asp-Glu-Ala-His) box polypeptide 37							146	123	131					12																	125449047		2203	4300	6503	SO:0001819	synonymous_variant	57647						ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding	g.chr12:125449047G>A	AB040950	CCDS9261.1	12q24.31	2004-03-25	2003-06-13	2003-06-20		ENSG00000150990		"DEAH-boxes"	17210	protein-coding gene	gene with protein product			"DEAD/DEAH box helicase DDX37"	DDX37		10819331	Standard	NM_032656		Approved	KIAA1517, MGC4322, MGC2695	uc001ugy.3	Q8IY37		ENST00000308736.2:c.1938C>T	12.37:g.125449047G>A						DHX37_ENST00000544745.1_Silent_p.Y433Y	p.Y646Y	NM_032656.3	NP_116045.2	Q8IY37	DHX37_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;8.05e-05)|Epithelial(86;0.000486)|all cancers(50;0.00653)	15	2036	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		646			Helicase C-terminal.		Q9BUI7|Q9P211	Silent	SNP	ENST00000308736.2	37	c.1938C>T	CCDS9261.1	.	.	.	.	.	.	.	.	.	.	G	7.104	0.574609	0.13623	.	.	ENSG00000150990	ENST00000543962	.	.	.	5.17	-6.18	0.02085	.	.	.	.	.	T	0.72463	0.3463	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.78398	-0.2219	5	0.87932	D	0	-12.6372	17.802	0.88590	0.9028:0.0:0.0972:0.0	.	.	.	.	M	98	.	ENSP00000443661:T98M	T	-	2	0	DHX37	124015000	0.280000	0.24249	0.785000	0.31869	0.123000	0.20343	-0.357000	0.07651	-1.361000	0.02169	-0.448000	0.05591	ACG		0.617	DHX37-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_032656		17	22	0	0	0	1	0	17	22					A	125449047	G	A	125449047	2	1	435	1	0	0	0	0	0	0	0	1	4510	1140	40	1		1	DHX37	12	125449047	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	181790	125449047	8402848	5952	26877											
DHX37	57647	broad.mit.edu	37	chr12	125465071	125465071	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcggttcacggggatgaagaCggcgggcttagccagggccc	7	5	18	11	4	1	2	1	1	0	1	1	3	1	3	2	6	1	2	2	6	2	2	rs373907134		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:125465071C>T	ENST00000308736.2	-	4	801	c.703G>A	c.(703-705)Gtc>Atc	p.V235I	DHX37_ENST00000544745.1_Missense_Mutation_p.V22I	NM_032656.3	NP_116045.2	Q8IY37	DHX37_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 37	235							ATP binding (GO:0005524)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)			breast(5)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|liver(1)|lung(27)|ovary(1)|prostate(2)|skin(3)	65	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;8.05e-05)|Epithelial(86;0.000486)|all cancers(50;0.00653)		GGGATGAAGACGGCGGGCTTA	0.647													C|||	1	0.000199681	0	0	5008	,	,		17533	0		0	False		,,,				2504	0.001					ENST00000308736.2																			0				breast(5)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|liver(1)|lung(27)|ovary(1)|prostate(2)|skin(3)	65						c.(703-705)Gtc>Atc		DEAH (Asp-Glu-Ala-His) box polypeptide 37		C	ILE/VAL	0,4406		0,0,2203	47	50	49		703	1.4	0.3	12		49	1,8599	1.2+/-3.3	0,1,4299	no	missense	DHX37	NM_032656.3	29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	235/1158	125465071	1,13005	2203	4300	6503	SO:0001583	missense	57647						ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding	g.chr12:125465071C>T	AB040950	CCDS9261.1	12q24.31	2004-03-25	2003-06-13	2003-06-20		ENSG00000150990		"DEAH-boxes"	17210	protein-coding gene	gene with protein product			"DEAD/DEAH box helicase DDX37"	DDX37		10819331	Standard	NM_032656		Approved	KIAA1517, MGC4322, MGC2695	uc001ugy.3	Q8IY37		ENST00000308736.2:c.703G>A	12.37:g.125465071C>T	ENSP00000311135:p.Val235Ile					DHX37_ENST00000544745.1_Missense_Mutation_p.V22I	p.V235I	NM_032656.3	NP_116045.2	Q8IY37	DHX37_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;8.05e-05)|Epithelial(86;0.000486)|all cancers(50;0.00653)	4	801	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		235					Q9BUI7|Q9P211	Missense_Mutation	SNP	ENST00000308736.2	37	c.703G>A	CCDS9261.1	.	.	.	.	.	.	.	.	.	.	C	6.653	0.488899	0.12641	0.0	1.16E-4	ENSG00000150990	ENST00000308736;ENST00000544745	T;T	0.03272	4.08;3.99	5.37	1.36	0.22044	.	0.300139	0.36444	N	0.002598	T	0.02533	0.0077	N	0.20986	0.625	0.40999	D	0.984918	B	0.24768	0.111	B	0.17722	0.019	T	0.53322	-0.8455	10	0.30854	T	0.27	-18.5216	8.0916	0.30803	0.0:0.6499:0.0:0.3501	.	235	Q8IY37	DHX37_HUMAN	I	235;22	ENSP00000311135:V235I;ENSP00000439009:V22I	ENSP00000311135:V235I	V	-	1	0	DHX37	124031024	0.005000	0.15991	0.337000	0.25536	0.004000	0.04260	-0.012000	0.12699	0.585000	0.29608	0.655000	0.94253	GTC		0.647	DHX37-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_032656		25	50	0	0	0	1	0	25	50					T	125465071	C	T	125465071	3	4	435	1	0	0	0	0	1	0	0	0	4510	536	19	1	2866	1	DHX37	12	125465071	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	16024	125465071	8386824	5953	26878											
TMEM132B	114795	broad.mit.edu	37	chr12	126138923	126138923	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acactcccatcagaggagtgCacaaccatgatagacagggg	14	5	11	11	0	1	3	1	1	0	2	2	4	2	4	2	3	2	1	2	3	2	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:126138923C>T	ENST00000299308.3	+	9	2912	c.2904C>T	c.(2902-2904)tgC>tgT	p.C968C	TMEM132B_ENST00000535886.1_Silent_p.C480C	NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN	transmembrane protein 132B	968						integral component of membrane (GO:0016021)				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		CAGAGGAGTGCACAACCATGA	0.512																																						ENST00000299308.3																			0				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107						c.(2902-2904)tgC>tgT		transmembrane protein 132B							67	64	65					12																	126138923		1913	4123	6036	SO:0001819	synonymous_variant	114795					integral to membrane		g.chr12:126138923C>T	AB067493	CCDS41859.1, CCDS66501.1	12q24.31	2006-03-02							29397	protein-coding gene	gene with protein product						11572484	Standard	NM_001286219		Approved	KIAA1906, KIAA1786	uc001uhe.1	Q14DG7		ENST00000299308.3:c.2904C>T	12.37:g.126138923C>T						TMEM132B_ENST00000535886.1_Silent_p.C480C	p.C968C	NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)	9	2912	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		968					A2RRG8|Q8NA73|Q96JN9|Q96PY1	Silent	SNP	ENST00000299308.3	37	c.2904C>T	CCDS41859.1																																																																																				0.512	TMEM132B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000400043.1	NM_052907		13	21	0	0	0	1	0	13	21					T	126138923	C	T	126138923	2	4	435	1	0	0	0	0	0	0	0	1	16043	718	25	3		3	TMEM132B	12	126138923	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	673852	126138923	7712972	5954	26879											
SLC15A4	121260	broad.mit.edu	37	chr12	129293375	129293375	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacaaagaacatgcccacggCgatcctcttcagggaggatg	12	6	12	11	2	2	1	1	0	1	1	3	5	3	3	2	3	2	0	2	3	2	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:129293375C>T	ENST00000266771.5	-	5	1255	c.1216G>A	c.(1216-1218)Gcc>Acc	p.A406T	SLC15A4_ENST00000539703.1_5'Flank|SLC15A4_ENST00000544112.1_Missense_Mutation_p.A69T	NM_145648.3	NP_663623.1	Q8N697	S15A4_HUMAN	solute carrier family 15 (oligopeptide transporter), member 4	406					ion transport (GO:0006811)|oligopeptide transport (GO:0006857)|protein transport (GO:0015031)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	L-histidine transmembrane transporter activity (GO:0005290)|symporter activity (GO:0015293)			endometrium(4)|kidney(2)|large_intestine(4)|lung(11)|skin(1)	22	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.69e-06)|Epithelial(86;1.17e-05)|all cancers(50;5.07e-05)		ATGCCCACGGCGATCCTCTTC	0.552																																						ENST00000266771.5																			0				endometrium(4)|kidney(2)|large_intestine(4)|lung(11)|skin(1)	22						c.(1216-1218)Gcc>Acc		solute carrier family 15 (oligopeptide transporter), member 4							115	93	100					12																	129293375		2203	4300	6503	SO:0001583	missense	121260				oligopeptide transport|protein transport	integral to membrane|lysosomal membrane	peptide:hydrogen symporter activity	g.chr12:129293375C>T	AY038999	CCDS9264.1	12q24.32	2013-07-18	2013-07-18		ENSG00000139370	ENSG00000139370		"Solute carriers"	23090	protein-coding gene	gene with protein product		615806	"solute carrier family 15, member 4"			11741232	Standard	NM_145648		Approved	PHT1, PTR4	uc001uhu.2	Q8N697	OTTHUMG00000168415	ENST00000266771.5:c.1216G>A	12.37:g.129293375C>T	ENSP00000266771:p.Ala406Thr					SLC15A4_ENST00000544112.1_Missense_Mutation_p.A69T	p.A406T	NM_145648.3	NP_663623.1	Q8N697	S15A4_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;1.69e-06)|Epithelial(86;1.17e-05)|all cancers(50;5.07e-05)	5	1255	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		406					A6H8Y9|B3KTK1|Q71M34|Q7Z5F8|Q8TAH0	Missense_Mutation	SNP	ENST00000266771.5	37	c.1216G>A	CCDS9264.1	.	.	.	.	.	.	.	.	.	.	C	36	5.736589	0.96865	.	.	ENSG00000139370	ENST00000266771;ENST00000544112;ENST00000376740	T;T;T	0.59638	0.25;0.25;3.61	5.5	5.5	0.81552	Major facilitator superfamily domain, general substrate transporter (1);	0.046747	0.85682	D	0.000000	T	0.60025	0.2237	L	0.31207	0.915	0.80722	D	1	P	0.52061	0.95	P	0.51453	0.67	T	0.63363	-0.6654	10	0.72032	D	0.01	.	19.7421	0.96237	0.0:1.0:0.0:0.0	.	406	Q8N697	S15A4_HUMAN	T	406;69;106	ENSP00000266771:A406T;ENSP00000439946:A69T;ENSP00000365930:A106T	ENSP00000266771:A406T	A	-	1	0	SLC15A4	127859328	1.000000	0.71417	0.939000	0.37840	0.945000	0.59286	6.993000	0.76245	2.749000	0.94314	0.650000	0.86243	GCC		0.552	SLC15A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399663.1	NM_145648		16	23	0	0	0	1	0	16	23					T	129293375	C	T	129293375	3	4	435	1	0	0	0	0	1	0	0	0	14401	768	27	1	533	1	SLC15A4	12	129293375	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	3154452	129293375	4558520	5955	26880											
FZD10	11211	broad.mit.edu	37	chr12	130647904	130647904	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gactgccggaaactccccaaCaagaacgaccccaactacct	14	4	6	17	2	0	1	0	0	0	1	1	4	1	2	6	1	6	0	6	1	6	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:130647904C>T	ENST00000229030.4	+	1	901	c.417C>T	c.(415-417)aaC>aaT	p.N139N	FZD10-AS1_ENST00000505807.2_RNA|FZD10_ENST00000539839.1_Nonsense_Mutation_p.Q107*			Q9ULW2	FZD10_HUMAN	frizzled class receptor 10	139	FZ. {ECO:0000255|PROSITE- ProRule:PRU00090}.				brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|cellular response to retinoic acid (GO:0071300)|gonad development (GO:0008406)|negative regulation of Rho GTPase activity (GO:0034259)|neuron differentiation (GO:0030182)|non-canonical Wnt signaling pathway via JNK cascade (GO:0038031)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of Rac GTPase activity (GO:0032855)|regulation of actin cytoskeleton organization (GO:0032956)|vasculature development (GO:0001944)	cell projection (GO:0042995)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|pancreas(1)|prostate(3)|urinary_tract(1)	35	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.3e-06)|Epithelial(86;1.66e-05)|all cancers(50;5.18e-05)		AACTCCCCAACAAGAACGACC	0.662																																						ENST00000539839.1																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|pancreas(1)|prostate(3)|urinary_tract(1)	35						c.(319-321)Caa>Taa		frizzled family receptor 10							92	95	94					12																	130647904		2203	4300	6503	SO:0001819	synonymous_variant	11211				brain development|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|embryo development|gonad development|negative regulation of Rho GTPase activity|neuron differentiation|non-canonical Wnt receptor signaling pathway|positive regulation of JUN kinase activity|positive regulation of Rac GTPase activity|regulation of actin cytoskeleton organization|vasculature development	cell projection|cell surface|cytoplasm|integral to plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding	g.chr12:130647904C>T	AB027464	CCDS9267.1	12q24.33	2014-01-29	2014-01-29			ENSG00000111432		"GPCR / Class F : Frizzled receptors", "CD molecules"	4039	protein-coding gene	gene with protein product		606147	"frizzled (Drosophila) homolog 10", "frizzled homolog 10 (Drosophila)", "frizzled 10, seven transmembrane spanning receptor", "frizzled family receptor 10"			10448064	Standard	NM_007197		Approved	CD350	uc001uii.3	Q9ULW2		ENST00000229030.4:c.417C>T	12.37:g.130647904C>T						FZD10_ENST00000229030.4_Silent_p.N139N	p.Q107*	NM_007197.3	NP_009128.1	Q9ULW2	FZD10_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;1.3e-06)|Epithelial(86;1.66e-05)|all cancers(50;5.18e-05)	1	901	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		0			FZ.			Nonsense_Mutation	SNP	ENST00000229030.4	37	c.319C>T	CCDS9267.1	.	.	.	.	.	.	.	.	.	.	C	41	8.783492	0.98952	.	.	ENSG00000111432	ENST00000539839	.	.	.	4.81	4.81	0.61882	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	14.3619	0.66779	0.1486:0.8514:0.0:0.0	.	.	.	.	X	107	.	ENSP00000438460:Q107X	Q	+	1	0	FZD10	129213857	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	1.359000	0.34113	2.202000	0.70862	0.561000	0.74099	CAA		0.662	FZD10-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				29	55	0	0	0	1	0	29	55					T	130647904	C	T	130647904	2	4	435	1	0	0	0	0	0	0	0	1	6129	477	17	3		3	FZD10	12	130647904	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	1354529	130647904	3203991	5956	26881											
PIWIL1	9271	broad.mit.edu	37	chr12	130827193	130827193	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcccgcggtcaggagacagcGcagctggtgggctccactgc	6	5	16	14	3	1	1	1	0	0	1	2	2	2	1	2	4	3	3	2	4	0	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:130827193G>A	ENST00000245255.3	+	2	329	c.57G>A	c.(55-57)gcG>gcA	p.A19A		NM_001190971.1|NM_004764.4	NP_001177900.1|NP_004755.2	Q96J94	PIWL1_HUMAN	piwi-like RNA-mediated gene silencing 1	19					gene silencing by RNA (GO:0031047)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|piRNA metabolic process (GO:0034587)|regulation of translation (GO:0006417)|spermatid development (GO:0007286)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|mRNA cap binding complex (GO:0005845)|P granule (GO:0043186)|polysome (GO:0005844)	mRNA binding (GO:0003729)|piRNA binding (GO:0034584)|single-stranded RNA binding (GO:0003727)			breast(6)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(26)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	57	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;3.02e-06)|Epithelial(86;3.85e-05)|all cancers(50;4.65e-05)		AGGAGACAGCGCAGCTGGTGG	0.493																																						ENST00000245255.3																			0				breast(6)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(26)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	57						c.(55-57)gcG>gcA		piwi-like RNA-mediated gene silencing 1							33	43	40					12																	130827193		2203	4300	6503	SO:0001819	synonymous_variant	9271				gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatid development	chromatoid body|P granule	mRNA binding|piRNA binding|protein binding	g.chr12:130827193G>A	AF104260	CCDS9268.1	12q24.33	2014-01-21	2013-02-15		ENSG00000125207	ENSG00000125207		"Argonaute/PIWI family"	9007	protein-coding gene	gene with protein product		605571	"piwi (Drosophila)-like 1", "piwi-like 1 (Drosophila)"			9851978, 12906857	Standard	NM_004764		Approved	PIWI, HIWI, CT80.1	uc001uik.3	Q96J94	OTTHUMG00000168382	ENST00000245255.3:c.57G>A	12.37:g.130827193G>A							p.A19A	NM_001190971.1|NM_004764.4	NP_001177900.1|NP_004755.2	Q96J94	PIWL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.02e-06)|Epithelial(86;3.85e-05)|all cancers(50;4.65e-05)	2	329	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		19					A4F266|O95404|Q8NA60|Q8TBY5|Q96JD5	Silent	SNP	ENST00000245255.3	37	c.57G>A	CCDS9268.1																																																																																				0.493	PIWIL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399510.1			8	10	0	0	0	1	0	8	10					A	130827193	G	A	130827193	2	1	435	1	0	0	0	0	0	0	0	1	11957	1074	38	1		1	PIWIL1	12	130827193	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	179289	130827193	3024702	5957	26882											
GPR133	283383	broad.mit.edu	37	chr12	131602982	131602982	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcatttgccatggacagttaCggaacaagcaacaagtaagt	15	9	9	8	1	1	0	1	0	0	0	1	2	1	2	1	2	5	3	1	2	6	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:131602982C>T	ENST00000261654.5	+	19	2653	c.2094C>T	c.(2092-2094)taC>taT	p.Y698Y	GPR133_ENST00000535015.1_Silent_p.Y730Y|GPR133_ENST00000543617.1_Silent_p.Y217Y|GPR133_ENST00000376682.4_Silent_p.Y384Y	NM_198827.3	NP_942122.2	Q6QNK2	GP133_HUMAN	G protein-coupled receptor 133	698					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(2)|endometrium(6)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|pancreas(6)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	67	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)		TGGACAGTTACGGAACAAGCA	0.493																																						ENST00000261654.5																			0				NS(2)|breast(2)|endometrium(6)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|pancreas(6)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	67						c.(2092-2094)taC>taT		G protein-coupled receptor 133							261	237	245					12																	131602982		2203	4300	6503	SO:0001819	synonymous_variant	283383				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr12:131602982C>T	AY278561	CCDS9272.1	12q24.33	2014-08-08			ENSG00000111452	ENSG00000111452		"-", "GPCR / Class B : Orphans"	19893	protein-coding gene	gene with protein product		613639					Standard	NM_198827		Approved	DKFZp434B1272, PGR25	uc001uit.4	Q6QNK2	OTTHUMG00000168339	ENST00000261654.5:c.2094C>T	12.37:g.131602982C>T						GPR133_ENST00000543617.1_Silent_p.Y217Y|GPR133_ENST00000376682.4_Silent_p.Y384Y|GPR133_ENST00000535015.1_Silent_p.Y730Y	p.Y698Y	NM_198827.3	NP_942122.2	Q6QNK2	GP133_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)	19	2653	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)		698					B2CKK9|B7ZLF7|Q2M1L3|Q6ZMQ1|Q7Z7M2|Q86SM4	Silent	SNP	ENST00000261654.5	37	c.2094C>T	CCDS9272.1																																																																																				0.493	GPR133-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399356.1	NM_198827		7	148	0	0	0	1	0	7	148					T	131602982	C	T	131602982	2	4	435	1	0	0	0	0	0	0	0	1	6643	547	19	1		1	GPR133	12	131602982	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	775789	131602982	2248913	5958	26883											
SFRS8	6433	broad.mit.edu	37	chr12	132250710	132250710	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cagctgctgcccgggaaaagCtggcccaggcgtctaaggag	9	5	15	12	2	1	0	0	0	1	0	1	2	1	2	2	4	4	3	2	4	3	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:132250710C>T	ENST00000261674.4	+	13	2140	c.1999C>T	c.(1999-2001)Ctg>Ttg	p.L667L	SFSWAP_ENST00000541286.1_Silent_p.L667L	NM_004592.3	NP_004583.2	Q12872	SFSWA_HUMAN	splicing factor, suppressor of white-apricot family	667					mRNA processing (GO:0006397)|mRNA splice site selection (GO:0006376)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	RNA binding (GO:0003723)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(8)|ovary(1)|skin(2)	25						CCGGGAAAAGCTGGCCCAGGC	0.443																																						ENST00000261674.4																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(8)|ovary(1)|skin(2)	25						c.(1999-2001)Ctg>Ttg		splicing factor, suppressor of white-apricot homolog (Drosophila)							103	118	113					12																	132250710		2203	4300	6503	SO:0001819	synonymous_variant	6433				mRNA splice site selection|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding|RNA binding	g.chr12:132250710C>T	U08377	CCDS9273.1, CCDS58290.1	12q24.33	2014-04-14	2014-04-14	2010-09-15	ENSG00000061936	ENSG00000061936			10790	protein-coding gene	gene with protein product		601945	"splicing factor, arginine/serine-rich 8 (suppressor-of-white-apricot, Drosophila homolog)", "splicing factor, arginine/serine-rich 8 (suppressor-of-white-apricot homolog, Drosophila)", "splicing factor, suppressor of white-apricot homolog (Drosophila)"	SFRS8		8940107	Standard	NM_004592		Approved	SWAP	uc010tbn.2	Q12872	OTTHUMG00000168319	ENST00000261674.4:c.1999C>T	12.37:g.132250710C>T						SFSWAP_ENST00000541286.1_Silent_p.L667L	p.L667L	NM_004592.3	NP_004583.2	Q12872	SFSWA_HUMAN			13	2140	+			667					B2RN45|B7ZM97|F5H6B8|Q6PJF7	Silent	SNP	ENST00000261674.4	37	c.1999C>T	CCDS9273.1																																																																																				0.443	SFSWAP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399276.1	NM_004592		5	121	0	0	0	1	0	5	121					T	132250710	C	T	132250710	2	4	435	1	0	0	0	0	0	0	0	1	14183	796	28	3		3	SFRS8	12	132250710	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	647728	132250710	1601185	5959	26884											
MMP17	4326	broad.mit.edu	37	chr12	132334397	132334397	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acgtagaggaaggatacccgCgccccgtctccgacttcagc	9	6	11	15	5	2	1	1	0	1	1	3	4	2	3	4	2	2	1	4	2	3	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:132334397C>T	ENST00000360564.1	+	9	1357	c.1255C>T	c.(1255-1257)Cgc>Tgc	p.R419C	MMP17_ENST00000535291.1_Missense_Mutation_p.R335C|MMP17_ENST00000535004.1_Intron	NM_016155.4	NP_057239.4	Q9ULZ9	MMP17_HUMAN	matrix metallopeptidase 17 (membrane-inserted)	419					positive regulation of catalytic activity (GO:0043085)	anchored component of membrane (GO:0031225)|integral component of plasma membrane (GO:0005887)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|enzyme activator activity (GO:0008047)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(3)|lung(1)	5	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.82e-07)|Epithelial(86;1.51e-06)|all cancers(50;2.35e-05)	Marimastat(DB00786)	AGGATACCCGCGCCCCGTCTC	0.612																																						ENST00000360564.1																			0				endometrium(1)|large_intestine(3)|lung(1)	5						c.(1255-1257)Cgc>Tgc		matrix metallopeptidase 17 (membrane-inserted)							93	95	94					12																	132334397		2203	4300	6503	SO:0001583	missense	4326				proteolysis	anchored to membrane|integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding	g.chr12:132334397C>T	X89576	CCDS31927.1	12q24.3	2005-08-08	2005-08-08		ENSG00000198598	ENSG00000198598			7163	protein-coding gene	gene with protein product		602285	"matrix metalloproteinase 17 (membrane-inserted)"			9878265	Standard	NM_016155		Approved	MT4-MMP	uc001ujc.1	Q9ULZ9	OTTHUMG00000168050	ENST00000360564.1:c.1255C>T	12.37:g.132334397C>T	ENSP00000353767:p.Arg419Cys					MMP17_ENST00000535291.1_Missense_Mutation_p.R335C|MMP17_ENST00000535004.1_Intron	p.R419C	NM_016155.4	NP_057239.4	Q9ULZ9	MMP17_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;1.82e-07)|Epithelial(86;1.51e-06)|all cancers(50;2.35e-05)	9	1357	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)		419			Hemopexin-like 2.		Q14850	Missense_Mutation	SNP	ENST00000360564.1	37	c.1255C>T	CCDS31927.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.103237	0.76983	.	.	ENSG00000198598	ENST00000360564;ENST00000535291;ENST00000534865;ENST00000542648	T;T;T;T	0.03242	4.0;4.0;4.0;4.0	4.48	4.48	0.54585	Hemopexin/matrixin (2);	0.067667	0.64402	D	0.000016	T	0.24122	0.0584	M	0.93854	3.465	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	T	0.09509	-1.0671	10	0.87932	D	0	.	12.3093	0.54920	0.1693:0.8307:0.0:0.0	.	419	Q9ULZ9	MMP17_HUMAN	C	419;335;260;49	ENSP00000353767:R419C;ENSP00000441106:R335C;ENSP00000442104:R260C;ENSP00000439542:R49C	ENSP00000353767:R419C	R	+	1	0	MMP17	130900350	0.973000	0.33851	0.980000	0.43619	0.819000	0.46315	2.404000	0.44539	2.054000	0.61138	0.471000	0.43371	CGC		0.612	MMP17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397757.1	NM_016155		4	75	0	0	0	1	0	4	75					T	132334397	C	T	132334397	3	4	435	1	0	0	0	0	1	0	0	0	9656	768	27	1	1289	1	MMP17	12	132334397	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	83687	132334397	1517498	5960	26885											
ULK1	8408	broad.mit.edu	37	chr12	132403156	132403156	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cggctgcagctttgccgaccCcattactgcgaacctggagg	7	8	12	14	3	0	0	0	0	0	0	0	3	0	1	4	3	6	3	4	3	2	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:132403156C>T	ENST00000321867.4	+	23	2792	c.2441C>T	c.(2440-2442)cCc>cTc	p.P814L	ULK1_ENST00000540647.1_Missense_Mutation_p.P59L	NM_003565.2	NP_003556	O75385	ULK1_HUMAN	unc-51 like autophagy activating kinase 1	814					autophagic vacuole assembly (GO:0000045)|axon extension (GO:0048675)|cellular response to nutrient levels (GO:0031669)|cerebellar granule cell differentiation (GO:0021707)|negative regulation of collateral sprouting (GO:0048671)|neuron projection development (GO:0031175)|neuron projection regeneration (GO:0031102)|positive regulation of autophagy (GO:0010508)|positive regulation of macroautophagy (GO:0016239)|protein autophosphorylation (GO:0046777)|protein localization (GO:0008104)|protein phosphorylation (GO:0006468)|radial glia guided migration of cerebellar granule cell (GO:0021933)|Ras protein signal transduction (GO:0007265)|receptor internalization (GO:0031623)|regulation of autophagy (GO:0010506)|regulation of neurotrophin TRK receptor signaling pathway (GO:0051386)|response to starvation (GO:0042594)	ATG1/UKL1 signaling complex (GO:0034273)|autophagic vacuole (GO:0005776)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|extrinsic component of autophagic vacuole membrane (GO:0097635)|extrinsic component of omegasome membrane (GO:0097629)|extrinsic component of pre-autophagosomal structure membrane (GO:0097632)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|pre-autophagosomal structure membrane (GO:0034045)|ULK1-ATG13-FIP200 complex (GO:0070969)	ATP binding (GO:0005524)|protein complex binding (GO:0032403)|protein serine/threonine kinase activity (GO:0004674)|Rab GTPase binding (GO:0017137)			breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	29	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.07e-08)|Epithelial(86;2.56e-07)|all cancers(50;3.01e-07)		TTTGCCGACCCCATTACTGCG	0.667																																						ENST00000321867.4																			0				breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	29						c.(2440-2442)cCc>cTc		unc-51 like autophagy activating kinase 1							15	16	16					12																	132403156		2183	4274	6457	SO:0001583	missense	8408				autophagy|protein localization|regulation of autophagy	autophagic vacuole|cytosol|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex	ATP binding|protein complex binding|protein serine/threonine kinase activity	g.chr12:132403156C>T	AF045458	CCDS9274.1	12q24.3	2014-02-12	2013-07-02		ENSG00000177169	ENSG00000177169			12558	protein-coding gene	gene with protein product	"ATG1 autophagy related 1 homolog (S. cerevisiae)"	603168	"unc-51 (C. elegans)-like kinase 1", "unc-51-like kinase 1 (C. elegans)"			9693035	Standard	NM_003565		Approved	ATG1, ATG1A	uc001uje.3	O75385	OTTHUMG00000168052	ENST00000321867.4:c.2441C>T	12.37:g.132403156C>T	ENSP00000324560:p.Pro814Leu					ULK1_ENST00000540647.1_Missense_Mutation_p.P59L	p.P814L	NM_003565.2	NP_003556.1	O75385	ULK1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;2.07e-08)|Epithelial(86;2.56e-07)|all cancers(50;3.01e-07)	23	2792	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)		814					Q9UQ28	Missense_Mutation	SNP	ENST00000321867.4	37	c.2441C>T	CCDS9274.1	.	.	.	.	.	.	.	.	.	.	C	18.77	3.694394	0.68386	.	.	ENSG00000177169	ENST00000321867;ENST00000541761;ENST00000540647	T;T;T	0.47528	0.84;0.84;0.84	5.21	4.32	0.51571	.	0.130407	0.52532	N	0.000077	T	0.57519	0.2059	M	0.65975	2.015	0.80722	D	1	D	0.54964	0.969	P	0.52856	0.711	T	0.61088	-0.7133	10	0.52906	T	0.07	-22.9398	13.4926	0.61405	0.0:0.9244:0.0:0.0756	.	814	O75385	ULK1_HUMAN	L	814;162;59	ENSP00000324560:P814L;ENSP00000444298:P162L;ENSP00000441794:P59L	ENSP00000324560:P814L	P	+	2	0	ULK1	130969109	0.950000	0.32346	0.658000	0.29665	0.159000	0.22180	3.768000	0.55295	1.202000	0.43218	0.561000	0.74099	CCC		0.667	ULK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397769.3			5	6	0	0	0	1	0	5	6					T	132403156	C	T	132403156	3	4	435	1	0	0	0	0	1	0	0	0	16972	623	22	3	2531	3	ULK1	12	132403156	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	68759	132403156	1448739	5961	26886											
EP400	57634	broad.mit.edu	37	chr12	132446496	132446496	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaatctgaggttatcaatgaCgaggtaagaaacaggagtta	17	9	11	4	1	2	3	1	2	1	1	2	5	2	4	0	3	1	3	0	3	6	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:132446496C>T	ENST00000333577.4	+	2	1441	c.1332C>T	c.(1330-1332)gaC>gaT	p.D444D	EP400_ENST00000332482.4_Silent_p.D444D|EP400_ENST00000330386.6_Silent_p.D444D|EP400_ENST00000389561.2_Silent_p.D444D|EP400_ENST00000389562.2_Silent_p.D444D			Q96L91	EP400_HUMAN	E1A binding protein p400	444					chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		TTATCAATGACGAGGTAAGAA	0.378																																						ENST00000333577.4																			0				NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161						c.(1330-1332)gaC>gaT		E1A binding protein p400							29	29	29					12																	132446496		2201	4297	6498	SO:0001819	synonymous_variant	57634				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	g.chr12:132446496C>T	U80743	CCDS31929.1, CCDS31929.2	12q24.33	2008-02-01	2002-02-05	2002-02-08		ENSG00000183495			11958	protein-coding gene	gene with protein product		606265	"trinucleotide repeat containing 12"	TNRC12		9225980, 11509179	Standard	NM_015409		Approved	CAGH32, KIAA1498, P400, KIAA1818, DKFZP434I225	uc001ujn.3	Q96L91		ENST00000333577.4:c.1332C>T	12.37:g.132446496C>T						EP400_ENST00000332482.4_Silent_p.D444D|EP400_ENST00000389561.2_Silent_p.D444D|EP400_ENST00000389562.2_Silent_p.D444D|EP400_ENST00000330386.6_Silent_p.D444D	p.D444D			Q96L91	EP400_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)	2	1441	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)	444					O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	Silent	SNP	ENST00000333577.4	37	c.1332C>T																																																																																					0.378	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015409		7	15	0	0	0	1	0	7	15					T	132446496	C	T	132446496	2	4	435	1	0	0	0	0	0	0	0	1	5149	535	19	1		1	EP400	12	132446496	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	43340	132446496	1405399	5962	26887											
EP400	57634	broad.mit.edu	37	chr12	132474615	132474615	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gatagccgcctccacggcccGggagatagagtgcttttggt	7	9	14	11	3	0	2	0	0	0	2	1	4	1	2	4	3	2	1	4	3	2	4	rs77464971		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:132474615G>A	ENST00000333577.4	+	9	2733	c.2624G>A	c.(2623-2625)cGg>cAg	p.R875Q	EP400_ENST00000332482.4_Missense_Mutation_p.R802Q|EP400_ENST00000330386.6_Missense_Mutation_p.R839Q|EP400_ENST00000389561.2_Missense_Mutation_p.R839Q|EP400_ENST00000389562.2_Missense_Mutation_p.R838Q			Q96L91	EP400_HUMAN	E1A binding protein p400	875					chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)	p.R838Q(1)		NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		TCCACGGCCCGGGAGATAGAG	0.577													G|||	1	0.000199681	8e-04	0	5008	,	,		17994	0		0	False		,,,				2504	0					ENST00000333577.4																			1	Substitution - Missense(1)	p.R838Q(1)	endometrium(1)	NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161						c.(2623-2625)cGg>cAg		E1A binding protein p400							83	90	87					12																	132474615		2203	4300	6503	SO:0001583	missense	57634				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	g.chr12:132474615G>A	U80743	CCDS31929.1, CCDS31929.2	12q24.33	2008-02-01	2002-02-05	2002-02-08		ENSG00000183495			11958	protein-coding gene	gene with protein product		606265	"trinucleotide repeat containing 12"	TNRC12		9225980, 11509179	Standard	NM_015409		Approved	CAGH32, KIAA1498, P400, KIAA1818, DKFZP434I225	uc001ujn.3	Q96L91		ENST00000333577.4:c.2624G>A	12.37:g.132474615G>A	ENSP00000333602:p.Arg875Gln					EP400_ENST00000332482.4_Missense_Mutation_p.R802Q|EP400_ENST00000389561.2_Missense_Mutation_p.R839Q|EP400_ENST00000389562.2_Missense_Mutation_p.R838Q|EP400_ENST00000330386.6_Missense_Mutation_p.R839Q	p.R875Q			Q96L91	EP400_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)	9	2733	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)	875					O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	Missense_Mutation	SNP	ENST00000333577.4	37	c.2624G>A		1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	11.91	1.781029	0.31502	.	.	ENSG00000183495	ENST00000537902;ENST00000333577;ENST00000389561;ENST00000389562;ENST00000332482;ENST00000330386;ENST00000423130;ENST00000541296;ENST00000542457	D;D;D;D;D	0.90844	-2.74;-2.72;-2.72;-2.72;-2.72	5.11	5.11	0.69529	.	0.000000	0.85682	D	0.000000	D	0.95037	0.8393	M	0.70275	2.135	0.35337	D	0.786134	D;D;D;P;D	0.89917	1.0;1.0;1.0;0.927;1.0	D;D;D;P;D	0.85130	0.987;0.987;0.987;0.452;0.997	D	0.97323	0.9945	10	0.66056	D	0.02	.	18.9004	0.92440	0.0:0.0:1.0:0.0	.	839;839;838;875;802	Q96L91-2;Q96L91-4;Q96L91-5;F8WCN8;Q96L91-3	.;.;.;.;.	Q	802;875;839;838;802;839;875;839;839	ENSP00000333602:R875Q;ENSP00000374212:R839Q;ENSP00000374213:R838Q;ENSP00000331737:R802Q;ENSP00000330620:R839Q	ENSP00000330620:R839Q	R	+	2	0	EP400	131040568	0.984000	0.35163	0.078000	0.20375	0.044000	0.14063	6.225000	0.72271	2.539000	0.85634	0.603000	0.83216	CGG		0.577	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015409		8	65	0	0	0	1	0	8	65					A	132474615	G	A	132474615	3	1	435	1	0	0	0	0	1	0	0	0	5149	1116	39	2	2539	2	EP400	12	132474615	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	28119	132474615	1377280	5963	26888											
EP400	57634	broad.mit.edu	37	chr12	132502188	132502188	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcgagccccggcacccaggCtcttcctacgtggcggggcc	4	6	14	17	4	1	0	0	0	1	0	3	1	2	0	5	5	2	2	5	5	1	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:132502188C>T	ENST00000333577.4	+	21	4249	c.4140C>T	c.(4138-4140)ggC>ggT	p.G1380G	EP400_ENST00000332482.4_Silent_p.G1307G|EP400_ENST00000330386.6_Silent_p.G1344G|EP400_ENST00000389561.2_Silent_p.G1344G|EP400_ENST00000389562.2_Silent_p.G1343G			Q96L91	EP400_HUMAN	E1A binding protein p400	1380					chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		GGCACCCAGGCTCTTCCTACG	0.597																																						ENST00000333577.4																			0				NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161						c.(4138-4140)ggC>ggT		E1A binding protein p400							43	42	43					12																	132502188		2203	4300	6503	SO:0001819	synonymous_variant	57634				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	g.chr12:132502188C>T	U80743	CCDS31929.1, CCDS31929.2	12q24.33	2008-02-01	2002-02-05	2002-02-08		ENSG00000183495			11958	protein-coding gene	gene with protein product		606265	"trinucleotide repeat containing 12"	TNRC12		9225980, 11509179	Standard	NM_015409		Approved	CAGH32, KIAA1498, P400, KIAA1818, DKFZP434I225	uc001ujn.3	Q96L91		ENST00000333577.4:c.4140C>T	12.37:g.132502188C>T						EP400_ENST00000332482.4_Silent_p.G1307G|EP400_ENST00000389561.2_Silent_p.G1344G|EP400_ENST00000389562.2_Silent_p.G1343G|EP400_ENST00000330386.6_Silent_p.G1344G	p.G1380G			Q96L91	EP400_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)	21	4249	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)	1380					O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	Silent	SNP	ENST00000333577.4	37	c.4140C>T																																																																																					0.597	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015409		19	22	0	0	0	1	0	19	22					T	132502188	C	T	132502188	2	4	435	1	0	0	0	0	0	0	0	1	5149	784	28	3		3	EP400	12	132502188	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	27573	132502188	1349707	5964	26889											
POLE	5426	broad.mit.edu	37	chr12	133209374	133209374	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atgcagtggtacacggccacGatgtacgctgtggagaggca	10	7	15	9	3	0	1	0	0	0	1	0	3	0	1	1	4	3	5	1	4	2	2	rs147806951		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:133209374G>A	ENST00000320574.5	-	44	6055	c.6012C>T	c.(6010-6012)atC>atT	p.I2004I	POLE_ENST00000434528.3_5'Flank|POLE_ENST00000535270.1_Silent_p.I1977I	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit	2004					base-excision repair, gap-filling (GO:0006287)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA synthesis involved in DNA repair (GO:0000731)|G1/S transition of mitotic cell cycle (GO:0000082)|in utero embryonic development (GO:0001701)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	cytoplasm (GO:0005737)|epsilon DNA polymerase complex (GO:0008622)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	4 iron, 4 sulfur cluster binding (GO:0051539)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|nucleotide binding (GO:0000166)|zinc ion binding (GO:0008270)			NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)	Cladribine(DB00242)	ACACGGCCACGATGTACGCTG	0.652								DNA polymerases (catalytic subunits)																														ENST00000320574.5																			0				NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89						c.(6010-6012)atC>atT	DNA polymerases (catalytic subunits)	polymerase (DNA directed), epsilon, catalytic subunit		G		0,4406		0,0,2203	43	43	43		6012	-10.3	0.2	12	dbSNP_134	43	1,8595		0,1,4297	no	coding-synonymous	POLE	NM_006231.2		0,1,6500	AA,AG,GG		0.0116,0.0,0.0077		2004/2287	133209374	1,13001	2203	4298	6501	SO:0001819	synonymous_variant	5426				base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding	g.chr12:133209374G>A		CCDS9278.1	12q24.3	2014-09-17	2012-05-18		ENSG00000177084	ENSG00000177084		"DNA polymerases"	9177	protein-coding gene	gene with protein product	"DNA polymerase epsilon catalytic subunit A"	174762	"polymerase (DNA directed), epsilon"			8020968	Standard	NM_006231		Approved	POLE1	uc001uks.1	Q07864	OTTHUMG00000168045	ENST00000320574.5:c.6012C>T	12.37:g.133209374G>A						POLE_ENST00000535270.1_Silent_p.I1977I	p.I2004I	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)	44	6055	-	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)	2004					Q13533|Q86VH9	Silent	SNP	ENST00000320574.5	37	c.6012C>T	CCDS9278.1																																																																																				0.652	POLE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397689.2	NM_006231		16	19	0	0	0	1	0	16	19					A	133209374	G	A	133209374	2	1	435	1	0	0	0	0	0	0	0	1	12196	1048	37	2		2	POLE	12	133209374	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	707186	133209374	642521	5965	26890											
POLE	5426	broad.mit.edu	37	chr12	133219878	133219878	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cccgaagagcgctttgtgggCctgtgcgtggtggtacaggt	5	10	17	9	3	0	1	0	0	0	1	0	2	0	1	2	4	3	2	2	4	2	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:133219878C>T	ENST00000320574.5	-	35	4526	c.4483G>A	c.(4483-4485)Gcc>Acc	p.A1495T	POLE_ENST00000434528.3_5'Flank|POLE_ENST00000535270.1_Missense_Mutation_p.A1468T	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit	1495					base-excision repair, gap-filling (GO:0006287)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA synthesis involved in DNA repair (GO:0000731)|G1/S transition of mitotic cell cycle (GO:0000082)|in utero embryonic development (GO:0001701)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	cytoplasm (GO:0005737)|epsilon DNA polymerase complex (GO:0008622)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	4 iron, 4 sulfur cluster binding (GO:0051539)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|nucleotide binding (GO:0000166)|zinc ion binding (GO:0008270)			NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)	Cladribine(DB00242)	GCTTTGTGGGCCTGTGCGTGG	0.592								DNA polymerases (catalytic subunits)																														ENST00000320574.5																			0				NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89						c.(4483-4485)Gcc>Acc	DNA polymerases (catalytic subunits)	polymerase (DNA directed), epsilon, catalytic subunit							140	123	129					12																	133219878		2203	4300	6503	SO:0001583	missense	5426				base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding	g.chr12:133219878C>T		CCDS9278.1	12q24.3	2014-09-17	2012-05-18		ENSG00000177084	ENSG00000177084		"DNA polymerases"	9177	protein-coding gene	gene with protein product	"DNA polymerase epsilon catalytic subunit A"	174762	"polymerase (DNA directed), epsilon"			8020968	Standard	NM_006231		Approved	POLE1	uc001uks.1	Q07864	OTTHUMG00000168045	ENST00000320574.5:c.4483G>A	12.37:g.133219878C>T	ENSP00000322570:p.Ala1495Thr					POLE_ENST00000535270.1_Missense_Mutation_p.A1468T	p.A1495T	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)	35	4526	-	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)	1495					Q13533|Q86VH9	Missense_Mutation	SNP	ENST00000320574.5	37	c.4483G>A	CCDS9278.1	.	.	.	.	.	.	.	.	.	.	C	18.07	3.540694	0.65085	.	.	ENSG00000177084	ENST00000320574;ENST00000455752;ENST00000535270	T;T;T	0.02709	4.2;4.19;4.19	5.96	5.96	0.96718	.	0.086833	0.85682	D	0.000000	T	0.03095	0.0091	N	0.14661	0.345	0.41717	D	0.989485	B;B	0.02656	0.0;0.0	B;B	0.08055	0.003;0.001	T	0.59542	-0.7435	10	0.35671	T	0.21	.	20.3928	0.98949	0.0:1.0:0.0:0.0	.	1468;1495	F5H1D6;Q07864	.;DPOE1_HUMAN	T	1495;1506;1468	ENSP00000322570:A1495T;ENSP00000406383:A1506T;ENSP00000445753:A1468T	ENSP00000322570:A1495T	A	-	1	0	POLE	131729951	1.000000	0.71417	0.995000	0.50966	0.242000	0.25591	6.014000	0.70784	2.813000	0.96785	0.655000	0.94253	GCC		0.592	POLE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397689.2	NM_006231		13	27	0	0	0	1	0	13	27					T	133219878	C	T	133219878	3	4	435	1	0	0	0	0	1	0	0	0	12196	739	26	3	2437	3	POLE	12	133219878	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	10504	133219878	632017	5966	26891											
POLE	5426	broad.mit.edu	37	chr12	133244173	133244173	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gagttttcccgctggcagatGgtggtgagacgctcttccac	6	11	13	11	2	1	2	0	1	1	2	3	4	3	2	2	3	0	4	2	3	0	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:133244173G>T	ENST00000320574.5	-	20	2278	c.2235C>A	c.(2233-2235)acC>acA	p.T745T	POLE_ENST00000535270.1_Silent_p.T718T	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit	745					base-excision repair, gap-filling (GO:0006287)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA synthesis involved in DNA repair (GO:0000731)|G1/S transition of mitotic cell cycle (GO:0000082)|in utero embryonic development (GO:0001701)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	cytoplasm (GO:0005737)|epsilon DNA polymerase complex (GO:0008622)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	4 iron, 4 sulfur cluster binding (GO:0051539)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|nucleotide binding (GO:0000166)|zinc ion binding (GO:0008270)			NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)	Cladribine(DB00242)	GCTGGCAGATGGTGGTGAGAC	0.572								DNA polymerases (catalytic subunits)																														ENST00000320574.5																			0				NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89						c.(2233-2235)acC>acA	DNA polymerases (catalytic subunits)	polymerase (DNA directed), epsilon, catalytic subunit							328	277	295					12																	133244173		2203	4300	6503	SO:0001819	synonymous_variant	5426				base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding	g.chr12:133244173G>T		CCDS9278.1	12q24.3	2014-09-17	2012-05-18		ENSG00000177084	ENSG00000177084		"DNA polymerases"	9177	protein-coding gene	gene with protein product	"DNA polymerase epsilon catalytic subunit A"	174762	"polymerase (DNA directed), epsilon"			8020968	Standard	NM_006231		Approved	POLE1	uc001uks.1	Q07864	OTTHUMG00000168045	ENST00000320574.5:c.2235C>A	12.37:g.133244173G>T						POLE_ENST00000535270.1_Silent_p.T718T	p.T745T	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)	20	2278	-	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)	745					Q13533|Q86VH9	Silent	SNP	ENST00000320574.5	37	c.2235C>A	CCDS9278.1																																																																																				0.572	POLE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397689.2	NM_006231		63	113	1	0	1.15062e-32	1	1.29117e-32	63	113					T	133244173	G	T	133244173	2	4	435	1	0	0	0	0	0	0	0	1	12196	1335	47	5		5	POLE	12	133244173	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	24295	133244173	607722	5967	26892											
POLE	5426	broad.mit.edu	37	chr12	133249829	133249829	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tcatgtacaggtagtaagtgGcgacagcatctgacacagaa	14	8	11	8	1	2	2	1	1	1	1	2	3	2	2	0	2	2	4	0	2	4	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:133249829G>A	ENST00000320574.5	-	14	1437	c.1394C>T	c.(1393-1395)gCc>gTc	p.A465V	POLE_ENST00000535270.1_Missense_Mutation_p.A438V	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit	465					base-excision repair, gap-filling (GO:0006287)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA synthesis involved in DNA repair (GO:0000731)|G1/S transition of mitotic cell cycle (GO:0000082)|in utero embryonic development (GO:0001701)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	cytoplasm (GO:0005737)|epsilon DNA polymerase complex (GO:0008622)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	4 iron, 4 sulfur cluster binding (GO:0051539)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|nucleotide binding (GO:0000166)|zinc ion binding (GO:0008270)			NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)	Cladribine(DB00242)	GTAGTAAGTGGCGACAGCATC	0.517								DNA polymerases (catalytic subunits)																														ENST00000320574.5																			0				NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89						c.(1393-1395)gCc>gTc	DNA polymerases (catalytic subunits)	polymerase (DNA directed), epsilon, catalytic subunit							206	172	183					12																	133249829		2203	4300	6503	SO:0001583	missense	5426				base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding	g.chr12:133249829G>A		CCDS9278.1	12q24.3	2014-09-17	2012-05-18		ENSG00000177084	ENSG00000177084		"DNA polymerases"	9177	protein-coding gene	gene with protein product	"DNA polymerase epsilon catalytic subunit A"	174762	"polymerase (DNA directed), epsilon"			8020968	Standard	NM_006231		Approved	POLE1	uc001uks.1	Q07864	OTTHUMG00000168045	ENST00000320574.5:c.1394C>T	12.37:g.133249829G>A	ENSP00000322570:p.Ala465Val					POLE_ENST00000535270.1_Missense_Mutation_p.A438V	p.A465V	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)	14	1437	-	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)	465					Q13533|Q86VH9	Missense_Mutation	SNP	ENST00000320574.5	37	c.1394C>T	CCDS9278.1	.	.	.	.	.	.	.	.	.	.	G	34	5.340886	0.95783	.	.	ENSG00000177084	ENST00000320574;ENST00000455752;ENST00000535270;ENST00000539006;ENST00000376577;ENST00000535934	T;T;T;T	0.43688	4.8;4.8;4.8;0.94	5.37	5.37	0.77165	Ribonuclease H-like (1);	0.000000	0.85682	D	0.000000	T	0.73410	0.3583	M	0.90922	3.16	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.992	T	0.80141	-0.1506	10	0.87932	D	0	.	19.0945	0.93244	0.0:0.0:1.0:0.0	.	438;465	F5H1D6;Q07864	.;DPOE1_HUMAN	V	465;476;438;245;400;83	ENSP00000322570:A465V;ENSP00000406383:A476V;ENSP00000445753:A438V;ENSP00000442519:A245V	ENSP00000322570:A465V	A	-	2	0	POLE	131759902	1.000000	0.71417	0.993000	0.49108	0.781000	0.44180	9.807000	0.99171	2.524000	0.85096	0.313000	0.20887	GCC		0.517	POLE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397689.2	NM_006231		31	44	0	0	0	1	0	31	44					A	133249829	G	A	133249829	3	1	435	1	0	0	0	0	1	0	0	0	12196	1203	42	3	5610	3	POLE	12	133249829	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	5656	133249829	602066	5968	26893											
ANKLE2	23141	broad.mit.edu	37	chr12	133319805	133319805	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caaatggtgtgacgaaagcaCgttgactacatctgcatttc	12	11	9	9	2	1	2	0	2	1	0	2	3	1	2	0	1	3	3	0	1	3	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:133319805C>T	ENST00000357997.5	-	6	1377	c.1288G>A	c.(1288-1290)Gtg>Atg	p.V430M	ANKLE2_ENST00000337516.5_Missense_Mutation_p.V430M|ANKLE2_ENST00000539605.1_Missense_Mutation_p.V368M	NM_015114.1	NP_055929.1	Q86XL3	ANKL2_HUMAN	ankyrin repeat and LEM domain containing 2	430					mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope reassembly (GO:0007084)|negative regulation of phosphorylation (GO:0042326)|positive regulation of protein dephosphorylation (GO:0035307)|regulation of catalytic activity (GO:0050790)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)	protein phosphatase 2A binding (GO:0051721)|protein phosphatase type 2A regulator activity (GO:0008601)			NS(2)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|lung(20)|ovary(1)|urinary_tract(2)	45	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.3e-08)|Epithelial(86;1.56e-07)|all cancers(50;4.94e-06)		GACGAAAGCACGTTGACTACA	0.363																																						ENST00000539605.1																			0				NS(2)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|lung(20)|ovary(1)|urinary_tract(2)	45						c.(1102-1104)Gtg>Atg		ankyrin repeat and LEM domain containing 2							133	119	123					12																	133319805		1894	4110	6004	SO:0001583	missense	23141					cytoplasm|integral to membrane|nuclear envelope		g.chr12:133319805C>T	AB014592	CCDS41869.1	12q24.33	2013-01-11	2008-03-25	2008-03-25	ENSG00000176915	ENSG00000176915		"Ankyrin repeat domain containing"	29101	protein-coding gene	gene with protein product	"LEM domain containing 7"		"KIAA0692"	KIAA0692		9734811	Standard	XM_005266159		Approved	LEMD7, Lem4	uc001ukx.2	Q86XL3	OTTHUMG00000168046	ENST00000357997.5:c.1288G>A	12.37:g.133319805C>T	ENSP00000350686:p.Val430Met					ANKLE2_ENST00000337516.5_Missense_Mutation_p.V430M|ANKLE2_ENST00000357997.5_Missense_Mutation_p.V430M	p.V368M			Q86XL3	ANKL2_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;2.3e-08)|Epithelial(86;1.56e-07)|all cancers(50;4.94e-06)	5	7786	-	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)	430					A8KAG3|B3KN97|B3KSF8|O75176|Q6P6A5|Q8TAZ9|Q96DH4	Missense_Mutation	SNP	ENST00000357997.5	37	c.1102G>A	CCDS41869.1	.	.	.	.	.	.	.	.	.	.	c	13.86	2.362025	0.41902	.	.	ENSG00000176915	ENST00000539605;ENST00000357997;ENST00000337516;ENST00000545623	T;T;T;T	0.64991	0.95;0.95;-0.13;-0.13	4.71	4.71	0.59529	Ankyrin repeat-containing domain (2);	0.191690	0.44902	D	0.000418	T	0.71617	0.3361	L	0.46670	1.46	0.50813	D	0.999897	D;D	0.89917	0.998;1.0	P;D	0.81914	0.895;0.995	T	0.73408	-0.3992	10	0.59425	D	0.04	-16.4875	12.2392	0.54532	0.0:0.9169:0.0:0.0831	.	430;430	Q86XL3-2;Q86XL3	.;ANKL2_HUMAN	M	368;430;430;200	ENSP00000446268:V368M;ENSP00000350686:V430M;ENSP00000337651:V430M;ENSP00000438515:V200M	ENSP00000337651:V430M	V	-	1	0	ANKLE2	131829878	0.998000	0.40836	0.750000	0.31169	0.040000	0.13550	3.721000	0.54941	2.161000	0.67846	0.639000	0.83563	GTG		0.363	ANKLE2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397712.1			12	17	0	0	0	1	0	12	17					T	133319805	C	T	133319805	3	4	435	1	0	0	0	0	1	0	0	0	633	536	19	1	1560	1	ANKLE2	12	133319805	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	69976	133319805	532090	5969	26894											
ANKLE2	23141	broad.mit.edu	37	chr12	133324465	133324465	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtccaccacgtaacggatacGcttctgcagcatggcctcgt	8	9	10	14	4	1	0	0	0	1	0	3	1	2	1	3	2	4	4	3	2	2	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:133324465G>A	ENST00000357997.5	-	5	1272	c.1183C>T	c.(1183-1185)Cgt>Tgt	p.R395C	ANKLE2_ENST00000337516.5_Missense_Mutation_p.R395C|ANKLE2_ENST00000539605.1_Missense_Mutation_p.R333C	NM_015114.1	NP_055929.1	Q86XL3	ANKL2_HUMAN	ankyrin repeat and LEM domain containing 2	395					mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope reassembly (GO:0007084)|negative regulation of phosphorylation (GO:0042326)|positive regulation of protein dephosphorylation (GO:0035307)|regulation of catalytic activity (GO:0050790)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)	protein phosphatase 2A binding (GO:0051721)|protein phosphatase type 2A regulator activity (GO:0008601)			NS(2)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|lung(20)|ovary(1)|urinary_tract(2)	45	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.3e-08)|Epithelial(86;1.56e-07)|all cancers(50;4.94e-06)		TAACGGATACGCTTCTGCAGC	0.527																																						ENST00000539605.1																			0				NS(2)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|lung(20)|ovary(1)|urinary_tract(2)	45						c.(997-999)Cgt>Tgt		ankyrin repeat and LEM domain containing 2							126	135	132					12																	133324465		2183	4264	6447	SO:0001583	missense	23141					cytoplasm|integral to membrane|nuclear envelope		g.chr12:133324465G>A	AB014592	CCDS41869.1	12q24.33	2013-01-11	2008-03-25	2008-03-25	ENSG00000176915	ENSG00000176915		"Ankyrin repeat domain containing"	29101	protein-coding gene	gene with protein product	"LEM domain containing 7"		"KIAA0692"	KIAA0692		9734811	Standard	XM_005266159		Approved	LEMD7, Lem4	uc001ukx.2	Q86XL3	OTTHUMG00000168046	ENST00000357997.5:c.1183C>T	12.37:g.133324465G>A	ENSP00000350686:p.Arg395Cys					ANKLE2_ENST00000337516.5_Missense_Mutation_p.R395C|ANKLE2_ENST00000357997.5_Missense_Mutation_p.R395C	p.R333C			Q86XL3	ANKL2_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;2.3e-08)|Epithelial(86;1.56e-07)|all cancers(50;4.94e-06)	4	7681	-	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)	395					A8KAG3|B3KN97|B3KSF8|O75176|Q6P6A5|Q8TAZ9|Q96DH4	Missense_Mutation	SNP	ENST00000357997.5	37	c.997C>T	CCDS41869.1	.	.	.	.	.	.	.	.	.	.	g	15.79	2.938073	0.52972	.	.	ENSG00000176915	ENST00000539605;ENST00000357997;ENST00000337516;ENST00000545623;ENST00000546061	T;T;T;T;T	0.48201	0.82;0.82;0.82;0.82;0.82	5.55	5.55	0.83447	Ankyrin repeat-containing domain (2);	0.000000	0.85682	D	0.000000	T	0.71160	0.3307	M	0.78223	2.4	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.71027	-0.4711	10	0.45353	T	0.12	-22.0895	19.5037	0.95106	0.0:0.0:1.0:0.0	.	395;395	Q86XL3-2;Q86XL3	.;ANKL2_HUMAN	C	333;395;395;165;41	ENSP00000446268:R333C;ENSP00000350686:R395C;ENSP00000337651:R395C;ENSP00000438515:R165C;ENSP00000445718:R41C	ENSP00000337651:R395C	R	-	1	0	ANKLE2	131834538	1.000000	0.71417	0.713000	0.30519	0.010000	0.07245	7.398000	0.79919	2.596000	0.87737	0.655000	0.94253	CGT		0.527	ANKLE2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397712.1			11	34	0	0	0	1	0	11	34					A	133324465	G	A	133324465	3	1	435	1	0	0	0	0	1	0	0	0	633	1087	38	1	1669	1	ANKLE2	12	133324465	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	4660	133324465	527430	5970	26895											
ANKLE2	23141	broad.mit.edu	37	chr12	133331649	133331649	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	catttcaatccggctttgacGatttcttctctaaggtcatc	8	16	6	11	2	4	1	2	1	2	0	7	2	5	1	1	2	0	1	1	2	2	5	rs375031409		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:133331649G>A	ENST00000357997.5	-	2	341	c.252C>T	c.(250-252)atC>atT	p.I84I	ANKLE2_ENST00000337516.5_Silent_p.I84I|ANKLE2_ENST00000539605.1_Silent_p.I22I	NM_015114.1	NP_055929.1	Q86XL3	ANKL2_HUMAN	ankyrin repeat and LEM domain containing 2	84	LEM. {ECO:0000255|PROSITE- ProRule:PRU00313}.				mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope reassembly (GO:0007084)|negative regulation of phosphorylation (GO:0042326)|positive regulation of protein dephosphorylation (GO:0035307)|regulation of catalytic activity (GO:0050790)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)	protein phosphatase 2A binding (GO:0051721)|protein phosphatase type 2A regulator activity (GO:0008601)			NS(2)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|lung(20)|ovary(1)|urinary_tract(2)	45	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.3e-08)|Epithelial(86;1.56e-07)|all cancers(50;4.94e-06)		CGGCTTTGACGATTTCTTCTC	0.418																																						ENST00000539605.1																			0				NS(2)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|lung(20)|ovary(1)|urinary_tract(2)	45						c.(64-66)atC>atT		ankyrin repeat and LEM domain containing 2		G		1,3733		0,1,1866	94	89	91		252	-2.9	0.1	12		91	1,8221		0,1,4110	no	coding-synonymous	ANKLE2	NM_015114.1		0,2,5976	AA,AG,GG		0.0122,0.0268,0.0167		84/939	133331649	2,11954	1867	4111	5978	SO:0001819	synonymous_variant	23141					cytoplasm|integral to membrane|nuclear envelope		g.chr12:133331649G>A	AB014592	CCDS41869.1	12q24.33	2013-01-11	2008-03-25	2008-03-25	ENSG00000176915	ENSG00000176915		"Ankyrin repeat domain containing"	29101	protein-coding gene	gene with protein product	"LEM domain containing 7"		"KIAA0692"	KIAA0692		9734811	Standard	XM_005266159		Approved	LEMD7, Lem4	uc001ukx.2	Q86XL3	OTTHUMG00000168046	ENST00000357997.5:c.252C>T	12.37:g.133331649G>A						ANKLE2_ENST00000337516.5_Silent_p.I84I|ANKLE2_ENST00000357997.5_Silent_p.I84I	p.I22I			Q86XL3	ANKL2_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;2.3e-08)|Epithelial(86;1.56e-07)|all cancers(50;4.94e-06)	1	6750	-	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)	84					A8KAG3|B3KN97|B3KSF8|O75176|Q6P6A5|Q8TAZ9|Q96DH4	Silent	SNP	ENST00000357997.5	37	c.66C>T	CCDS41869.1																																																																																				0.418	ANKLE2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397712.1			40	65	0	0	0	1	0	40	65					A	133331649	G	A	133331649	2	1	435	1	0	0	0	0	0	0	0	1	633	1048	37	2		2	ANKLE2	12	133331649	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	7184	133331649	520246	5971	26896											
GOLGA3	2802	broad.mit.edu	37	chr12	133384773	133384773	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggtgttctccagacggtcGtcagtgtcgggggacaggct	6	9	17	9	3	2	1	1	0	1	1	5	3	2	2	1	5	0	2	1	5	0	1	rs143511800	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:133384773G>A	ENST00000450791.2	-	4	1065	c.882C>T	c.(880-882)gaC>gaT	p.D294D	GOLGA3_ENST00000537452.1_Silent_p.D294D|GOLGA3_ENST00000456883.2_Silent_p.D294D|GOLGA3_ENST00000204726.3_Silent_p.D294D|GOLGA3_ENST00000545875.1_Silent_p.D294D			Q08378	GOGA3_HUMAN	golgin A3	294					intra-Golgi vesicle-mediated transport (GO:0006891)	cytosol (GO:0005829)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extrinsic component of Golgi membrane (GO:0090498)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi transport complex (GO:0017119)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	transporter activity (GO:0005215)			breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06)		CCAGACGGTCGTCAGTGTCGG	0.597																																						ENST00000204726.3																			0				breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						c.(880-882)gaC>gaT		golgin A3		A	,	0,4406		0,0,2203	114	113	113		882,882	-10.6	0	12	dbSNP_134	113	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous,coding-synonymous	GOLGA3	NM_001172557.1,NM_005895.3	,	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	,	294/1135,294/1499	133384773	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	2802				intra-Golgi vesicle-mediated transport	Golgi cisterna membrane|Golgi transport complex	protein binding|transporter activity	g.chr12:133384773G>A	AF485338	CCDS9281.1, CCDS53846.1	12q24.33	2010-02-12	2010-02-12		ENSG00000090615	ENSG00000090615			4426	protein-coding gene	gene with protein product	"SY2/SY10 protein", "Golgi complex-associated protein of 170 kD"	602581	"golgi autoantigen, golgin subfamily a, 3"			8315394, 15829563	Standard	NM_001172557		Approved	golgin-160, GCP170, MEA-2	uc001ukz.1	Q08378	OTTHUMG00000168023	ENST00000450791.2:c.882C>T	12.37:g.133384773G>A						GOLGA3_ENST00000456883.2_Silent_p.D294D|GOLGA3_ENST00000450791.2_Silent_p.D294D|GOLGA3_ENST00000545875.1_Silent_p.D294D|GOLGA3_ENST00000537452.1_Silent_p.D294D	p.D294D	NM_005895.3	NP_005886.2	Q08378	GOGA3_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06)	5	1440	-	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)	294					A5PKX6|O43241|Q6P9C7|Q86XW3|Q8TDA9|Q8WZA3	Silent	SNP	ENST00000450791.2	37	c.882C>T	CCDS9281.1																																																																																				0.597	GOLGA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397569.2	NM_005895		39	52	0	0	0	1	0	39	52					A	133384773	G	A	133384773	2	1	435	1	0	0	0	0	0	0	0	1	6554	1136	40	1		1	GOLGA3	12	133384773	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	53124	133384773	467122	5972	26897											
TUBA3C	7278	broad.mit.edu	37	chr13	19751146	19751146	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cgatggccgcgttgacatctTtcgggaccacatcccccctg	6	9	10	16	4	1	1	0	1	1	0	3	3	2	2	5	2	0	1	5	2	0	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr13:19751146T>A	ENST00000400113.3	-	4	1081	c.977A>T	c.(976-978)aAa>aTa	p.K326I		NM_006001.2	NP_005992.1	Q13748	TBA3C_HUMAN	tubulin, alpha 3c	326					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|microtubule-based process (GO:0007017)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(4)|prostate(7)|skin(7)|urinary_tract(1)	72		all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108)		GTTGACATCTTTCGGGACCAC	0.542																																						ENST00000400113.3																			0				NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(4)|prostate(7)|skin(7)|urinary_tract(1)	72						c.(976-978)aAa>aTa		tubulin, alpha 3c							158	130	140					13																	19751146		2203	4300	6503	SO:0001583	missense	7278				'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity	g.chr13:19751146T>A	AF005392	CCDS9284.1	13q12.11	2007-06-20	2007-02-12	2007-02-12	ENSG00000198033	ENSG00000198033		"Tubulins"	12408	protein-coding gene	gene with protein product		602528	"tubulin, alpha 2"	TUBA2		9465305	Standard	NM_006001		Approved	bA408E5.3	uc009zzj.3	Q13748	OTTHUMG00000016481	ENST00000400113.3:c.977A>T	13.37:g.19751146T>A	ENSP00000382982:p.Lys326Ile						p.K326I	NM_006001.2	NP_005992.1	Q13748	TBA3C_HUMAN		all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108)	4	1081	-		all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162)	326					A6NJQ0|Q5W099|Q6PEY3|Q96F18	Missense_Mutation	SNP	ENST00000400113.3	37	c.977A>T	CCDS9284.1	.	.	.	.	.	.	.	.	.	.	t	12.47	1.946497	0.34377	.	.	ENSG00000198033	ENST00000400113;ENST00000360801	D	0.86030	-2.06	1.21	1.21	0.21127	.	0.000000	0.49916	U	0.000136	D	0.85856	0.5794	.	.	.	0.41481	D	0.988169	.	.	.	.	.	.	D	0.84424	0.0573	7	0.87932	D	0	.	6.5532	0.22446	0.0:0.0:0.0:1.0	.	.	.	.	I	326	ENSP00000382982:K326I	ENSP00000354037:K326I	K	-	2	0	TUBA3C	18649146	1.000000	0.71417	0.969000	0.41365	0.662000	0.39071	6.473000	0.73572	0.809000	0.34255	0.155000	0.16302	AAA		0.542	TUBA3C-002	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044007.2	NM_006001		18	71	0	0	0	1	0	18	71					A	19751146	T	A	19751146	3	1	435	1	0	0	0	0	1	0	0	0	16743	1841	64	5	383	5	TUBA3C	13	19751146	Missense_Mutation	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08		19751146	95418732	5973	26898											
TPTE2	93492	broad.mit.edu	37	chr13	20006632	20006632	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccacgaatcgaataaataatGaatctttttataaagagtat	18	13	5	5	2	1	2	0	1	1	1	2	4	1	2	1	0	0	1	1	0	10	7			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr13:20006632G>A	ENST00000400230.2	-	16	1247	c.1203C>T	c.(1201-1203)ttC>ttT	p.F401F	TPTE2_ENST00000457266.2_Silent_p.F290F|TPTE2_ENST00000382975.4_Silent_p.F361F|TPTE2_ENST00000255310.6_Silent_p.F324F|TPTE2_ENST00000382978.1_Silent_p.F361F|TPTE2_ENST00000390680.2_Silent_p.F324F|TPTE2_ENST00000382977.4_Silent_p.F401F|TPTE2_ENST00000400103.2_Silent_p.F290F			Q6XPS3	TPTE2_HUMAN	transmembrane phosphoinositide 3-phosphatase and tensin homolog 2	401	C2 tensin-type. {ECO:0000255|PROSITE- ProRule:PRU00589}.				phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	ion channel activity (GO:0005216)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)		AATAAATAATGAATCTTTTTA	0.393																																						ENST00000400230.2																			0				NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						c.(1201-1203)ttC>ttT		transmembrane phosphoinositide 3-phosphatase and tensin homolog 2							35	32	33					13																	20006632		2203	4295	6498	SO:0001819	synonymous_variant	93492					endoplasmic reticulum membrane|integral to membrane	ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr13:20006632G>A	AJ421032	CCDS9285.1, CCDS45013.1, CCDS45014.1	13q12.11	2012-12-10			ENSG00000132958	ENSG00000132958		"Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"	17299	protein-coding gene	gene with protein product		606791				11716755, 12717346, 15057823	Standard	NM_130785		Approved	TPIP	uc001umd.3	Q6XPS3	OTTHUMG00000016493	ENST00000400230.2:c.1203C>T	13.37:g.20006632G>A						TPTE2_ENST00000255310.6_Silent_p.F324F|TPTE2_ENST00000382978.1_Silent_p.F361F|TPTE2_ENST00000382975.4_Silent_p.F361F|TPTE2_ENST00000457266.2_Silent_p.F290F|TPTE2_ENST00000400103.2_Silent_p.F290F|TPTE2_ENST00000390680.2_Silent_p.F324F|TPTE2_ENST00000382977.4_Silent_p.F401F	p.F401F			Q6XPS3	TPTE2_HUMAN		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)	16	1247	-		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)	401			C2 tensin-type.		A1A4X0|A1A4X1|A8MX64|B1AQ16|B4DWZ2|Q5VUH2|Q8WWL4|Q8WWL5	Silent	SNP	ENST00000400230.2	37	c.1203C>T	CCDS45014.1																																																																																				0.393	TPTE2-205	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_199254		9	27	0	0	0	1	0	9	27					A	20006632	G	A	20006632	2	1	435	1	0	0	0	0	0	0	0	1	16428	1281	45	3		3	TPTE2	13	20006632	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	255486	20006632	95163246	5974	26899											
ZMYM5	9205	broad.mit.edu	37	chr13	20399047	20399047	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gttgtttaatattcaaaattCggggccacgtacctggatct	10	14	9	8	2	2	0	1	0	1	0	3	1	2	1	2	3	1	3	2	3	5	7	rs573943099	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr13:20399047C>T	ENST00000337963.4	-	8	1844	c.1580G>A	c.(1579-1581)cGa>cAa	p.R527Q		NM_001142684.1	NP_001136156.1	Q9UJ78	ZMYM5_HUMAN	zinc finger, MYM-type 5	527						nucleus (GO:0005634)	zinc ion binding (GO:0008270)			kidney(1)|large_intestine(5)|lung(9)	15		all_cancers(29;2.96e-22)|all_epithelial(30;3.76e-20)|all_lung(29;4.38e-20)|Lung NSC(5;5.8e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.61e-05)|Epithelial(112;4.89e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00171)|Lung(94;0.00942)|LUSC - Lung squamous cell carcinoma(192;0.0431)		attcaaaattcggggccacgt	0.388													C|||	2	0.000399361	0.0015	0	5008	,	,		17601	0		0	False		,,,				2504	0					ENST00000337963.4																			0				kidney(1)|large_intestine(5)|lung(9)	15						c.(1579-1581)cGa>cAa		zinc finger, MYM-type 5							37	34	35					13																	20399047		1568	3582	5150	SO:0001583	missense	9205					nucleus	zinc ion binding	g.chr13:20399047C>T	AF161535	CCDS31942.1, CCDS31943.1	13q12	2013-01-08	2005-09-12	2005-09-12	ENSG00000132950	ENSG00000132950		"Zinc fingers, MYM type"	13029	protein-coding gene	gene with protein product			"zinc finger protein 237"	ZNF237			Standard	NM_001039650		Approved	ZNF198L1, MYM	uc010tcn.1	Q9UJ78	OTTHUMG00000016504	ENST00000337963.4:c.1580G>A	13.37:g.20399047C>T	ENSP00000337034:p.Arg527Gln						p.R527Q	NM_001142684.1	NP_001136156.1	Q9UJ78	ZMYM5_HUMAN		all cancers(112;1.61e-05)|Epithelial(112;4.89e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00171)|Lung(94;0.00942)|LUSC - Lung squamous cell carcinoma(192;0.0431)	8	1844	-		all_cancers(29;2.96e-22)|all_epithelial(30;3.76e-20)|all_lung(29;4.38e-20)|Lung NSC(5;5.8e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)	527					B2R6V1|Q5T6E1|Q5T6E2|Q5T6E4|Q96IY6|Q9NZY5|Q9UBW0|Q9UJ77	Missense_Mutation	SNP	ENST00000337963.4	37	c.1580G>A		.	.	.	.	.	.	.	.	.	.	C	16.23	3.064131	0.55432	.	.	ENSG00000132950	ENST00000337963;ENST00000502168	T;T	0.17054	2.3;2.3	2.62	2.62	0.31277	.	0.064345	0.64402	U	0.000007	T	0.24431	0.0592	L	0.36672	1.1	0.23981	N	0.996279	D	0.76494	0.999	D	0.74023	0.982	T	0.05699	-1.0869	10	0.20519	T	0.43	.	8.8908	0.35432	0.0:1.0:0.0:0.0	.	527	Q9UJ78	ZMYM5_HUMAN	Q	527;517	ENSP00000337034:R527Q;ENSP00000445779:R517Q	ENSP00000337034:R527Q	R	-	2	0	ZMYM5	19297047	0.933000	0.31639	0.592000	0.28758	0.971000	0.66376	2.769000	0.47654	1.749000	0.51849	0.305000	0.20034	CGA		0.388	ZMYM5-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_014242		7	13	0	0	0	1	0	7	13					T	20399047	C	T	20399047	3	4	435	1	0	0	0	0	1	0	0	0	17700	884	31	2	433	2	ZMYM5	13	20399047	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	392415	20399047	94770831	5975	26900											
ZMYM5	9205	broad.mit.edu	37	chr13	20426312	20426312	+	Frame_Shift_Del	DEL	T	T	-																															tctaatcctcccactgaacaTttttccatgccaatgaacct																										TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr13:20426312delT	ENST00000337963.4	-	3	273	c.9delA	c.(7-9)aaafs	p.K3fs	ZMYM5_ENST00000382907.4_Frame_Shift_Del_p.K3fs|ZMYM5_ENST00000382905.4_Frame_Shift_Del_p.K3fs	NM_001142684.1	NP_001136156.1	Q9UJ78	ZMYM5_HUMAN	zinc finger, MYM-type 5	3						nucleus (GO:0005634)	zinc ion binding (GO:0008270)			kidney(1)|large_intestine(5)|lung(9)	15		all_cancers(29;2.96e-22)|all_epithelial(30;3.76e-20)|all_lung(29;4.38e-20)|Lung NSC(5;5.8e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.61e-05)|Epithelial(112;4.89e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00171)|Lung(94;0.00942)|LUSC - Lung squamous cell carcinoma(192;0.0431)		CCACTGAACATTTTTCCATGC	0.368																																						ENST00000337963.4																			0				kidney(1)|large_intestine(5)|lung(9)	15						c.(7-9)aafs		zinc finger, MYM-type 5							157	163	161					13																	20426312		2203	4300	6503	SO:0001589	frameshift_variant	9205					nucleus	zinc ion binding	g.chr13:20426312delT	AF161535	CCDS31942.1, CCDS31943.1	13q12	2013-01-08	2005-09-12	2005-09-12	ENSG00000132950	ENSG00000132950		"Zinc fingers, MYM type"	13029	protein-coding gene	gene with protein product			"zinc finger protein 237"	ZNF237			Standard	NM_001039650		Approved	ZNF198L1, MYM	uc010tcn.1	Q9UJ78	OTTHUMG00000016504	ENST00000337963.4:c.9delA	13.37:g.20426312delT	ENSP00000337034:p.Lys3fs					ZMYM5_ENST00000382907.4_Frame_Shift_Del_p.K3fs|ZMYM5_ENST00000382905.4_Frame_Shift_Del_p.K3fs	p.K3fs	NM_001142684.1	NP_001136156.1	Q9UJ78	ZMYM5_HUMAN		all cancers(112;1.61e-05)|Epithelial(112;4.89e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00171)|Lung(94;0.00942)|LUSC - Lung squamous cell carcinoma(192;0.0431)	3	273	-		all_cancers(29;2.96e-22)|all_epithelial(30;3.76e-20)|all_lung(29;4.38e-20)|Lung NSC(5;5.8e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)	3					B2R6V1|Q5T6E1|Q5T6E2|Q5T6E4|Q96IY6|Q9NZY5|Q9UBW0|Q9UJ77	Frame_Shift_Del	DEL	ENST00000337963.4	37	c.9delA																																																																																					0.368	ZMYM5-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_014242		8	261						8	261	---	---	---	---	-	20426312	T	-	20426312	7	5	435	1	0	1	0	1	0	0	0	0	17700	1490	52	0	2135	0	ZMYM5	13	20426312	Frame_Shift_Del	DEL	T	TCGA-XK-AAIW-01A-11D-A41K-08	27265	20426312	94743566	5976	26901											
GJB6	10804	broad.mit.edu	37	chr13	20797027	20797027	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcagcatgcaaatcacagacGcagaaatcataaaaatggta	19	6	8	8	1	2	2	2	0	0	2	2	2	2	2	0	1	2	5	0	1	6	2	rs200881320		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr13:20797027G>A	ENST00000356192.6	-	5	1213	c.593C>T	c.(592-594)gCg>gTg	p.A198V	GJB6_ENST00000241124.6_Missense_Mutation_p.A198V|GJB6_ENST00000400065.3_Missense_Mutation_p.A198V|GJB6_ENST00000400066.3_Missense_Mutation_p.A198V	NM_001110219.2	NP_001103689.1	O95452	CXB6_HUMAN	gap junction protein, beta 6, 30kDa	198					apoptotic process (GO:0006915)|cell communication (GO:0007154)|ear morphogenesis (GO:0042471)|inner ear development (GO:0048839)|negative regulation of cell proliferation (GO:0008285)|sensory perception of sound (GO:0007605)	apical plasma membrane (GO:0016324)|connexon complex (GO:0005922)|cytosol (GO:0005829)|integral component of membrane (GO:0016021)				biliary_tract(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)	9		all_cancers(29;2.04e-22)|all_epithelial(30;1.19e-19)|all_lung(29;2.27e-18)|Lung SC(185;0.0257)|Ovarian(182;0.0822)		all cancers(112;2.17e-05)|Epithelial(112;0.00075)|OV - Ovarian serous cystadenocarcinoma(117;0.00978)|Lung(94;0.0238)|GBM - Glioblastoma multiforme(144;0.0323)|LUSC - Lung squamous cell carcinoma(192;0.0744)		AATCACAGACGCAGAAATCAT	0.448													G|||	1	0.000199681	0	0	5008	,	,		20854	0.001		0	False		,,,				2504	0					ENST00000356192.6																			0				biliary_tract(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)	9						c.(592-594)gCg>gTg		gap junction protein, beta 6, 30kDa							92	80	84					13																	20797027		2203	4300	6503	SO:0001583	missense	0				cell communication|sensory perception of sound	connexon complex|integral to membrane|intracellular membrane-bounded organelle		g.chr13:20797027G>A	AJ005585	CCDS9291.1	13q12	2010-01-06	2007-11-06		ENSG00000121742	ENSG00000121742		"Ion channels / Gap junction proteins (connexins)"	4288	protein-coding gene	gene with protein product	"connexin 30"	604418	"ectodermal dysplasia 2, hidrotic (Clouston syndrome)", "gap junction protein, beta 6 (connexin 30)", "gap junction protein, beta 6"	DFNA3, ED2		10471490, 8845850	Standard	NM_006783		Approved	EDH, HED, CX30	uc001und.4	O95452	OTTHUMG00000016515	ENST00000356192.6:c.593C>T	13.37:g.20797027G>A	ENSP00000348521:p.Ala198Val					GJB6_ENST00000400066.3_Missense_Mutation_p.A198V|GJB6_ENST00000400065.3_Missense_Mutation_p.A198V|GJB6_ENST00000241124.6_Missense_Mutation_p.A198V	p.A198V	NM_001110219.2	NP_001103689.1	O95452	CXB6_HUMAN		all cancers(112;2.17e-05)|Epithelial(112;0.00075)|OV - Ovarian serous cystadenocarcinoma(117;0.00978)|Lung(94;0.0238)|GBM - Glioblastoma multiforme(144;0.0323)|LUSC - Lung squamous cell carcinoma(192;0.0744)	5	1213	-		all_cancers(29;2.04e-22)|all_epithelial(30;1.19e-19)|all_lung(29;2.27e-18)|Lung SC(185;0.0257)|Ovarian(182;0.0822)	198					B3KQN2|Q5Q1H9|Q5Q1I0|Q5Q1I1|Q5T5U0|Q8IUP0	Missense_Mutation	SNP	ENST00000356192.6	37	c.593C>T	CCDS9291.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	0.073	-1.198030	0.01594	.	.	ENSG00000121742	ENST00000241124;ENST00000400065;ENST00000400066;ENST00000356192	D;D;D;D	0.94497	-3.44;-3.44;-3.44;-3.44	5.45	5.45	0.79879	Gap junction protein, cysteine-rich domain (1);	0.103882	0.43110	D	0.000618	T	0.78972	0.4368	N	0.00811	-1.165	0.35421	D	0.793222	B	0.16166	0.016	B	0.15870	0.014	T	0.77485	-0.2570	10	0.02654	T	1	.	10.4386	0.44450	0.1197:0.0:0.8803:0.0	.	198	O95452	CXB6_HUMAN	V	198	ENSP00000241124:A198V;ENSP00000382938:A198V;ENSP00000382939:A198V;ENSP00000348521:A198V	ENSP00000241124:A198V	A	-	2	0	GJB6	19695027	0.972000	0.33761	0.705000	0.30386	0.016000	0.09150	3.227000	0.51262	2.547000	0.85894	0.655000	0.94253	GCG		0.448	GJB6-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000272906.1			19	28	0	0	0	1	0	19	28					A	20797027	G	A	20797027	3	1	435	1	0	0	0	0	1	0	0	0	6412	1087	38	1	196	1	GJB6	13	20797027	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	370715	20797027	94372851	5977	26902											
GJB6	10804	broad.mit.edu	37	chr13	20797512	20797512	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	acttcctgggcagccaccacGaggatcatgactcggaaaat	12	7	10	12	2	1	1	1	1	0	0	3	4	2	3	3	3	1	1	3	3	2	1	rs199700601		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr13:20797512G>A	ENST00000356192.6	-	5	728	c.108C>T	c.(106-108)ctC>ctT	p.L36L	GJB6_ENST00000241124.6_Silent_p.L36L|GJB6_ENST00000400065.3_Silent_p.L36L|GJB6_ENST00000400066.3_Silent_p.L36L	NM_001110219.2	NP_001103689.1	O95452	CXB6_HUMAN	gap junction protein, beta 6, 30kDa	36					apoptotic process (GO:0006915)|cell communication (GO:0007154)|ear morphogenesis (GO:0042471)|inner ear development (GO:0048839)|negative regulation of cell proliferation (GO:0008285)|sensory perception of sound (GO:0007605)	apical plasma membrane (GO:0016324)|connexon complex (GO:0005922)|cytosol (GO:0005829)|integral component of membrane (GO:0016021)				biliary_tract(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)	9		all_cancers(29;2.04e-22)|all_epithelial(30;1.19e-19)|all_lung(29;2.27e-18)|Lung SC(185;0.0257)|Ovarian(182;0.0822)		all cancers(112;2.17e-05)|Epithelial(112;0.00075)|OV - Ovarian serous cystadenocarcinoma(117;0.00978)|Lung(94;0.0238)|GBM - Glioblastoma multiforme(144;0.0323)|LUSC - Lung squamous cell carcinoma(192;0.0744)		CAGCCACCACGAGGATCATGA	0.532													G|||	1	0.000199681	0	0.0014	5008	,	,		19697	0		0	False		,,,				2504	0					ENST00000356192.6																			0				biliary_tract(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)	9						c.(106-108)ctC>ctT		gap junction protein, beta 6, 30kDa							123	107	112					13																	20797512		2203	4300	6503	SO:0001819	synonymous_variant	0				cell communication|sensory perception of sound	connexon complex|integral to membrane|intracellular membrane-bounded organelle		g.chr13:20797512G>A	AJ005585	CCDS9291.1	13q12	2010-01-06	2007-11-06		ENSG00000121742	ENSG00000121742		"Ion channels / Gap junction proteins (connexins)"	4288	protein-coding gene	gene with protein product	"connexin 30"	604418	"ectodermal dysplasia 2, hidrotic (Clouston syndrome)", "gap junction protein, beta 6 (connexin 30)", "gap junction protein, beta 6"	DFNA3, ED2		10471490, 8845850	Standard	NM_006783		Approved	EDH, HED, CX30	uc001und.4	O95452	OTTHUMG00000016515	ENST00000356192.6:c.108C>T	13.37:g.20797512G>A						GJB6_ENST00000400066.3_Silent_p.L36L|GJB6_ENST00000400065.3_Silent_p.L36L|GJB6_ENST00000241124.6_Silent_p.L36L	p.L36L	NM_001110219.2	NP_001103689.1	O95452	CXB6_HUMAN		all cancers(112;2.17e-05)|Epithelial(112;0.00075)|OV - Ovarian serous cystadenocarcinoma(117;0.00978)|Lung(94;0.0238)|GBM - Glioblastoma multiforme(144;0.0323)|LUSC - Lung squamous cell carcinoma(192;0.0744)	5	728	-		all_cancers(29;2.04e-22)|all_epithelial(30;1.19e-19)|all_lung(29;2.27e-18)|Lung SC(185;0.0257)|Ovarian(182;0.0822)	36					B3KQN2|Q5Q1H9|Q5Q1I0|Q5Q1I1|Q5T5U0|Q8IUP0	Silent	SNP	ENST00000356192.6	37	c.108C>T	CCDS9291.1																																																																																				0.532	GJB6-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000272906.1			39	56	0	0	0	1	0	39	56					A	20797512	G	A	20797512	2	1	435	1	0	0	0	0	0	0	0	1	6412	1045	37	2		2	GJB6	13	20797512	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	485	20797512	94372366	5978	26903											
CRYL1	51084	broad.mit.edu	37	chr13	20987517	20987517	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtccaggtcactaggagacaCgattccttcctacgtggaga	10	9	11	11	2	1	2	1	0	0	2	4	5	4	2	3	3	1	0	3	3	2	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr13:20987517C>T	ENST00000298248.7	-	6	705	c.643G>A	c.(643-645)Gtg>Atg	p.V215M	CRYL1_ENST00000382812.1_Missense_Mutation_p.V193M	NM_015974.2	NP_057058.2	Q9Y2S2	CRYL1_HUMAN	crystallin, lambda 1	215					fatty acid metabolic process (GO:0006631)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	3-hydroxyacyl-CoA dehydrogenase activity (GO:0003857)|L-gulonate 3-dehydrogenase activity (GO:0050104)|NAD+ binding (GO:0070403)|protein homodimerization activity (GO:0042803)			NS(1)|kidney(1)|large_intestine(5)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	14		all_cancers(29;2.27e-23)|all_epithelial(30;1.69e-19)|all_lung(29;8.29e-18)|Lung SC(185;0.0262)|Ovarian(182;0.0827)|Hepatocellular(188;0.244)		all cancers(112;6.6e-05)|Epithelial(112;0.00178)|OV - Ovarian serous cystadenocarcinoma(117;0.0169)|Lung(94;0.0215)|GBM - Glioblastoma multiforme(144;0.0402)|LUSC - Lung squamous cell carcinoma(192;0.061)		CTAGGAGACACGATTCCTTCC	0.463																																						ENST00000382812.1																			0				NS(1)|kidney(1)|large_intestine(5)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	14						c.(577-579)Gtg>Atg		crystallin, lambda 1							109	107	107					13																	20987517		1962	4148	6110	SO:0001583	missense	51084				fatty acid metabolic process	cytosol	3-hydroxyacyl-CoA dehydrogenase activity|L-gulonate 3-dehydrogenase activity|NAD+ binding|protein homodimerization activity	g.chr13:20987517C>T	AF077049	CCDS41871.1	13q11	2008-07-18			ENSG00000165475	ENSG00000165475			18246	protein-coding gene	gene with protein product	"crystallin, lamda 1", "L-gulonate 3-dehydrogenase", "lambda-crystallin homolog"	609877				12527201	Standard	NM_015974		Approved	GDH, lambda-CRY, MGC149525, MGC149526	uc001une.3	Q9Y2S2	OTTHUMG00000016516	ENST00000298248.7:c.643G>A	13.37:g.20987517C>T	ENSP00000298248:p.Val215Met					CRYL1_ENST00000298248.7_Missense_Mutation_p.V215M	p.V193M			Q9Y2S2	CRYL1_HUMAN		all cancers(112;6.6e-05)|Epithelial(112;0.00178)|OV - Ovarian serous cystadenocarcinoma(117;0.0169)|Lung(94;0.0215)|GBM - Glioblastoma multiforme(144;0.0402)|LUSC - Lung squamous cell carcinoma(192;0.061)	7	805	-		all_cancers(29;2.27e-23)|all_epithelial(30;1.69e-19)|all_lung(29;8.29e-18)|Lung SC(185;0.0262)|Ovarian(182;0.0827)|Hepatocellular(188;0.244)	215					A0PJ43|B3KN92|Q0VDI1|Q7Z4Z9|Q9P0G7	Missense_Mutation	SNP	ENST00000298248.7	37	c.577G>A	CCDS41871.1	.	.	.	.	.	.	.	.	.	.	C	8.258	0.810609	0.16537	.	.	ENSG00000165475	ENST00000298248;ENST00000382812	D;D	0.90385	-2.66;-2.66	5.11	4.26	0.50523	3-hydroxyacyl-CoA dehydrogenase, C-terminal (1);Dehydrogenase, multihelical (1);6-phosphogluconate dehydrogenase, C-terminal-like (1);	0.069570	0.64402	D	0.000013	D	0.88822	0.6541	M	0.68317	2.08	0.42202	D	0.991772	D	0.53745	0.962	P	0.46320	0.512	D	0.86872	0.2036	10	0.34782	T	0.22	-42.6232	7.7928	0.29129	0.0:0.7556:0.0:0.2444	.	215	Q9Y2S2	CRYL1_HUMAN	M	215;193	ENSP00000298248:V215M;ENSP00000372262:V193M	ENSP00000298248:V215M	V	-	1	0	CRYL1	19885517	0.216000	0.23585	0.937000	0.37676	0.090000	0.18270	0.577000	0.23758	2.371000	0.80710	0.561000	0.74099	GTG		0.463	CRYL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044071.1	NM_015974		5	13	0	0	0	1	0	5	13					T	20987517	C	T	20987517	3	4	435	1	0	0	0	0	1	0	0	0	3920	536	19	1	328	1	CRYL1	13	20987517	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	190005	20987517	94182361	5979	26904											
IFT88	8100	broad.mit.edu	37	chr13	21199953	21199953	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atgatctggaaataaacaaaGcagttacatacttgagacaa	19	9	7	6	0	1	2	0	2	1	1	1	4	1	3	0	1	4	2	0	1	7	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr13:21199953G>A	ENST00000319980.6	+	17	1618	c.1291G>A	c.(1291-1293)Gca>Aca	p.A431T	IFT88_ENST00000537103.1_Missense_Mutation_p.A403T|IFT88_ENST00000351808.5_Missense_Mutation_p.A422T|IFT88_ENST00000382778.4_Missense_Mutation_p.A431T|IFT88_ENST00000461115.1_3'UTR	NM_175605.3	NP_783195.2	Q13099	IFT88_HUMAN	intraflagellar transport 88	431					anterior/posterior pattern specification (GO:0009952)|cardiac muscle cell differentiation (GO:0055007)|cardiac septum morphogenesis (GO:0060411)|cilium morphogenesis (GO:0060271)|cochlea development (GO:0090102)|cytoplasmic microtubule organization (GO:0031122)|determination of left/right symmetry (GO:0007368)|embryonic digit morphogenesis (GO:0042733)|epidermal stem cell homeostasis (GO:0036334)|epidermis development (GO:0008544)|epithelial cell morphogenesis (GO:0003382)|eye development (GO:0001654)|forebrain morphogenesis (GO:0048853)|heart formation (GO:0060914)|inner ear receptor stereocilium organization (GO:0060122)|kidney development (GO:0001822)|liver development (GO:0001889)|lung vasculature development (GO:0060426)|negative regulation of epithelial cell proliferation (GO:0050680)|Notch signaling pathway (GO:0007219)|palate development (GO:0060021)|pancreas development (GO:0031016)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|protein localization (GO:0008104)|regulation of autophagic vacuole assembly (GO:2000785)|regulation of cilium assembly (GO:1902017)|regulation of fat cell differentiation (GO:0045598)|regulation of odontogenesis of dentin-containing tooth (GO:0042487)|regulation of protein processing (GO:0070613)|regulation of smoothened signaling pathway (GO:0008589)|response to fluid shear stress (GO:0034405)|smoothened signaling pathway (GO:0007224)|sperm axoneme assembly (GO:0007288)|spermatid nucleus elongation (GO:0007290)|spinal cord dorsal/ventral patterning (GO:0021513)|telencephalon development (GO:0021537)	acrosomal membrane (GO:0002080)|apical part of cell (GO:0045177)|axonemal basal plate (GO:0097541)|centriole (GO:0005814)|ciliary basal body (GO:0036064)|ciliary base (GO:0097546)|ciliary tip (GO:0097542)|cilium (GO:0005929)|intraciliary transport particle B (GO:0030992)|kinocilium (GO:0060091)|motile cilium (GO:0031514)|motile primary cilium (GO:0031512)|photoreceptor connecting cilium (GO:0032391)				breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	27		all_cancers(29;5.79e-25)|all_epithelial(30;2.57e-20)|all_lung(29;3.13e-16)|Lung SC(185;0.0262)|Ovarian(182;0.0825)|Hepatocellular(188;0.244)		all cancers(112;0.000667)|Epithelial(112;0.00119)|OV - Ovarian serous cystadenocarcinoma(117;0.0141)|Lung(94;0.0183)|LUSC - Lung squamous cell carcinoma(192;0.0528)		AATAAACAAAGCAGTTACATA	0.318																																						ENST00000382778.4																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	27						c.(1291-1293)Gca>Aca		intraflagellar transport 88 homolog (Chlamydomonas)							103	97	99					13																	21199953		2203	4300	6503	SO:0001583	missense	8100				cilium morphogenesis	centriole|intraflagellar transport particle B|microtubule basal body|microtubule-based flagellum	protein binding	g.chr13:21199953G>A	AK058172	CCDS31944.1, CCDS31945.1	13q12.1	2014-07-03	2014-07-03	2005-11-02	ENSG00000032742	ENSG00000032742		"Intraflagellar transport homologs", "Tetratricopeptide (TTC) repeat domain containing"	20606	protein-coding gene	gene with protein product	"polaris homolog"	600595	"tetratricopeptide repeat domain 10", "intraflagellar transport 88 homolog (Chlamydomonas)"	TTC10		7633404	Standard	XM_005266546		Approved	hTg737, Tg737, D13S1056E, MGC26259	uc001uni.3	Q13099	OTTHUMG00000016517	ENST00000319980.6:c.1291G>A	13.37:g.21199953G>A	ENSP00000323580:p.Ala431Thr					IFT88_ENST00000461115.1_3'UTR|IFT88_ENST00000319980.6_Missense_Mutation_p.A431T|IFT88_ENST00000351808.5_Missense_Mutation_p.A422T|IFT88_ENST00000537103.1_Missense_Mutation_p.A403T	p.A431T			Q13099	IFT88_HUMAN		all cancers(112;0.000667)|Epithelial(112;0.00119)|OV - Ovarian serous cystadenocarcinoma(117;0.0141)|Lung(94;0.0183)|LUSC - Lung squamous cell carcinoma(192;0.0528)	16	2409	+		all_cancers(29;5.79e-25)|all_epithelial(30;2.57e-20)|all_lung(29;3.13e-16)|Lung SC(185;0.0262)|Ovarian(182;0.0825)|Hepatocellular(188;0.244)	431					A2A491|B4DUS2|Q5SZJ6|Q8N719	Missense_Mutation	SNP	ENST00000319980.6	37	c.1291G>A	CCDS31944.1	.	.	.	.	.	.	.	.	.	.	G	29.5	5.009233	0.93346	.	.	ENSG00000032742	ENST00000382778;ENST00000389374;ENST00000351808;ENST00000319980;ENST00000537103	D;T;T;T	0.81499	-1.5;0.2;0.2;0.2	5.35	5.35	0.76521	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.055325	0.64402	D	0.000001	D	0.91523	0.7323	M	0.89353	3.025	0.80722	D	1	D;D;D;P	0.89917	1.0;1.0;0.999;0.919	D;D;D;B	0.76071	0.987;0.979;0.978;0.375	D	0.92611	0.6099	10	0.72032	D	0.01	-10.9596	19.0236	0.92923	0.0:0.0:1.0:0.0	.	403;431;229;431	F5H6C2;E7EW86;Q6MZX0;Q13099	.;.;.;IFT88_HUMAN	T	431;294;422;431;403	ENSP00000372228:A431T;ENSP00000261632:A422T;ENSP00000323580:A431T;ENSP00000437719:A403T	ENSP00000323580:A431T	A	+	1	0	IFT88	20097953	1.000000	0.71417	0.997000	0.53966	0.763000	0.43281	9.349000	0.97066	2.673000	0.90976	0.585000	0.79938	GCA		0.318	IFT88-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000044075.3	NM_006531		17	18	0	0	0	1	0	17	18					A	21199953	G	A	21199953	3	1	435	1	0	0	0	0	1	0	0	0	7566	971	34	3	1349	3	IFT88	13	21199953	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	212436	21199953	93969925	5980	26905											
XPO4	64328	broad.mit.edu	37	chr13	21396280	21396280	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agtatacctacccattgataGtattcagtaatccctcaatg	13	13	5	10	0	2	1	2	1	0	0	3	1	3	1	3	0	2	3	3	0	7	8			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr13:21396280G>T	ENST00000255305.6	-	8	1060	c.989C>A	c.(988-990)aCt>aAt	p.T330N	XPO4_ENST00000400602.2_Missense_Mutation_p.T330N			Q9C0E2	XPO4_HUMAN	exportin 4	330					positive regulation of protein export from nucleus (GO:0046827)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(1)|endometrium(10)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	41		all_cancers(29;5.05e-24)|all_epithelial(30;5.56e-20)|all_lung(29;2.38e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)		all cancers(112;0.000521)|Epithelial(112;0.000892)|OV - Ovarian serous cystadenocarcinoma(117;0.0148)|Lung(94;0.0189)|LUSC - Lung squamous cell carcinoma(192;0.0548)		CCCATTGATAGTATTCAGTAA	0.403																																						ENST00000400602.2																			0				breast(1)|endometrium(10)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	41						c.(988-990)aCt>aAt		exportin 4							109	103	105					13																	21396280		1883	4105	5988	SO:0001583	missense	64328				protein transport	cytoplasm|nucleus	protein binding	g.chr13:21396280G>T	AB051508	CCDS41872.1	13q11	2011-04-13			ENSG00000132953	ENSG00000132953		"Exportins"	17796	protein-coding gene	gene with protein product		611449				11214970, 10944119	Standard	NM_022459		Approved	FLJ13046, KIAA1721	uc001unq.4	Q9C0E2	OTTHUMG00000016528	ENST00000255305.6:c.989C>A	13.37:g.21396280G>T	ENSP00000255305:p.Thr330Asn					XPO4_ENST00000255305.6_Missense_Mutation_p.T330N	p.T330N	NM_022459.4	NP_071904.4	Q9C0E2	XPO4_HUMAN		all cancers(112;0.000521)|Epithelial(112;0.000892)|OV - Ovarian serous cystadenocarcinoma(117;0.0148)|Lung(94;0.0189)|LUSC - Lung squamous cell carcinoma(192;0.0548)	8	1024	-		all_cancers(29;5.05e-24)|all_epithelial(30;5.56e-20)|all_lung(29;2.38e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)	330					Q5VUZ5|Q8N3V6|Q9H934	Missense_Mutation	SNP	ENST00000255305.6	37	c.989C>A	CCDS41872.1	.	.	.	.	.	.	.	.	.	.	G	14.49	2.550126	0.45383	.	.	ENSG00000132953	ENST00000400602;ENST00000456108;ENST00000255305	T;T	0.66638	-0.22;-0.22	5.44	5.44	0.79542	Armadillo-type fold (1);	0.044796	0.85682	D	0.000000	T	0.47655	0.1457	N	0.08118	0	0.49687	D	0.999812	B	0.28971	0.229	B	0.19666	0.026	T	0.42327	-0.9458	10	0.23891	T	0.37	-17.4853	19.622	0.95660	0.0:0.0:1.0:0.0	.	330	Q9C0E2	XPO4_HUMAN	N	330;200;330	ENSP00000383444:T330N;ENSP00000255305:T330N	ENSP00000255305:T330N	T	-	2	0	XPO4	20294280	1.000000	0.71417	0.998000	0.56505	0.959000	0.62525	6.890000	0.75633	2.710000	0.92621	0.563000	0.77884	ACT		0.403	XPO4-001	KNOWN	non_canonical_conserved|non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000044096.1	NM_022459		28	31	1	0	5.77227e-19	1	6.37883e-19	28	31					T	21396280	G	T	21396280	3	4	435	1	0	0	0	0	1	0	0	0	17443	1029	36	5	2530	5	XPO4	13	21396280	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	196327	21396280	93773598	5981	26906											
LATS2	26524	broad.mit.edu	37	chr13	21562221	21562221	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atctgctttttatcctttccGcctttgtcccccttggcgct	2	18	6	15	2	1	0	0	0	1	0	4	0	4	0	5	1	1	2	5	1	1	6			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr13:21562221G>A	ENST00000382592.4	-	4	2103	c.1698C>T	c.(1696-1698)ggC>ggT	p.G566G	LATS2_ENST00000542899.1_Silent_p.G566G|LATS2_ENST00000472754.1_5'Flank	NM_014572.2	NP_055387.2			large tumor suppressor kinase 2											breast(4)|central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(2)	45		all_cancers(29;4.74e-22)|all_epithelial(30;1.45e-18)|all_lung(29;4.69e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)		all cancers(112;0.000781)|Epithelial(112;0.00144)|OV - Ovarian serous cystadenocarcinoma(117;0.0183)|Lung(94;0.0375)|LUSC - Lung squamous cell carcinoma(192;0.104)		TATCCTTTCCGCCTTTGTCCC	0.597																																						ENST00000382592.4																			0				breast(4)|central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(2)	45						c.(1696-1698)ggC>ggT		large tumor suppressor kinase 2							193	190	191					13																	21562221		2203	4300	6503	SO:0001819	synonymous_variant	26524				cell division|G1/S transition of mitotic cell cycle|hippo signaling cascade|hormone-mediated signaling pathway|intracellular protein kinase cascade|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity	microtubule organizing center|nucleus|spindle pole	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr13:21562221G>A	AB028019	CCDS9294.1	13q11-q12	2013-04-25	2013-04-25		ENSG00000150457	ENSG00000150457			6515	protein-coding gene	gene with protein product		604861	"LATS (large tumor suppressor, Drosophila) homolog 2", "LATS, large tumor suppressor, homolog 2 (Drosophila)"			10673337	Standard	NM_014572		Approved		uc001unr.4	Q9NRM7	OTTHUMG00000016531	ENST00000382592.4:c.1698C>T	13.37:g.21562221G>A						LATS2_ENST00000542899.1_Silent_p.G566G	p.G566G	NM_014572.2	NP_055387.2	Q9NRM7	LATS2_HUMAN		all cancers(112;0.000781)|Epithelial(112;0.00144)|OV - Ovarian serous cystadenocarcinoma(117;0.0183)|Lung(94;0.0375)|LUSC - Lung squamous cell carcinoma(192;0.104)	4	2103	-		all_cancers(29;4.74e-22)|all_epithelial(30;1.45e-18)|all_lung(29;4.69e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)	566						Silent	SNP	ENST00000382592.4	37	c.1698C>T	CCDS9294.1																																																																																				0.597	LATS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044102.1			5	117	0	0	0	1	0	5	117					A	21562221	G	A	21562221	2	1	435	1	0	0	0	0	0	0	0	1	8647	1074	38	1		1	LATS2	13	21562221	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	165941	21562221	93607657	5982	26907											
SKA3	221150	broad.mit.edu	37	chr13	21746495	21746495	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacctgaatttttcttgacaCgtggactatatccatacttc	11	15	5	10	1	1	2	0	2	1	0	3	3	2	3	2	1	2	0	2	1	5	7	rs192149072		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr13:21746495C>T	ENST00000314759.5	-	3	438	c.314G>A	c.(313-315)cGt>cAt	p.R105H	SKA3_ENST00000400018.3_Missense_Mutation_p.R105H	NM_145061.5	NP_659498.4	Q8IX90	SKA3_HUMAN	spindle and kinetochore associated complex subunit 3	105					chromosome segregation (GO:0007059)|mitotic nuclear division (GO:0007067)|regulation of microtubule polymerization or depolymerization (GO:0031110)	condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|spindle microtubule (GO:0005876)				breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19						TTTCTTGACACGTGGACTATA	0.313													C|||	1	0.000199681	0	0	5008	,	,		19379	0		0.001	False		,,,				2504	0					ENST00000314759.5																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19						c.(313-315)cGt>cAt		spindle and kinetochore associated complex subunit 3							75	84	81					13																	21746495		2202	4294	6496	SO:0001583	missense	221150				cell division|chromosome segregation|mitosis|regulation of microtubule polymerization or depolymerization	condensed chromosome outer kinetochore|cytoplasm|spindle microtubule	protein binding	g.chr13:21746495C>T	AF361358	CCDS31946.1, CCDS53856.1	13q11	2013-01-17	2009-08-19	2009-08-19	ENSG00000165480	ENSG00000165480			20262	protein-coding gene	gene with protein product			"chromosome 13 open reading frame 3"	C13orf3		19387489, 19289083, 19646878, 19360002	Standard	NM_145061		Approved	MGC4832, RAMA1	uc001unt.3	Q8IX90	OTTHUMG00000016539	ENST00000314759.5:c.314G>A	13.37:g.21746495C>T	ENSP00000319417:p.Arg105His					SKA3_ENST00000400018.3_Missense_Mutation_p.R105H	p.R105H	NM_145061.5	NP_659498.4	Q8IX90	SKA3_HUMAN			3	438	-			105					A2A330|A2A331|B2RBY2|Q5VZV5|Q86WR2|Q8NBG1|Q96D22	Missense_Mutation	SNP	ENST00000314759.5	37	c.314G>A	CCDS31946.1	2	9.157509157509158E-4	0	0.0	0	0.0	0	0.0	2	0.002638522427440633	C	14.71	2.616972	0.46736	.	.	ENSG00000165480	ENST00000314759;ENST00000400018	T;T	0.23754	1.89;1.89	5.52	2.08	0.27032	.	0.545016	0.21323	N	0.076425	T	0.15565	0.0375	L	0.48362	1.52	0.09310	N	1	P;P	0.41546	0.754;0.754	B;B	0.34242	0.178;0.178	T	0.10590	-1.0623	10	0.30854	T	0.27	-13.0736	4.2228	0.10567	0.0:0.4437:0.3009:0.2554	.	105;105	Q8IX90-3;Q8IX90	.;SKA3_HUMAN	H	105	ENSP00000319417:R105H;ENSP00000382896:R105H	ENSP00000319417:R105H	R	-	2	0	SKA3	20644495	0.031000	0.19500	0.824000	0.32777	0.930000	0.56654	-0.022000	0.12480	1.313000	0.45069	0.591000	0.81541	CGT		0.313	SKA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000272912.1	NM_145061		31	59	0	0	0	1	0	31	59					T	21746495	C	T	21746495	3	4	435	1	0	0	0	0	1	0	0	0	14354	536	19	1	999	1	SKA3	13	21746495	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	184274	21746495	93423383	5983	26908											
EFHA1	221154	broad.mit.edu	37	chr13	22069324	22069324	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aaacctcgatgcattctgttTtttaacaccccaagaaactc	13	12	4	12	1	1	1	0	0	1	1	3	2	1	1	3	0	4	2	3	0	4	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr13:22069324T>C	ENST00000382374.4	-	11	1241	c.1176A>G	c.(1174-1176)aaA>aaG	p.K392K	MICU2_ENST00000479790.1_5'UTR	NM_152726.2	NP_689939.1	Q8IYU8	MICU2_HUMAN	mitochondrial calcium uptake 2	392	EF-hand 4. {ECO:0000255|PROSITE- ProRule:PRU00448}.				mitochondrial calcium ion transport (GO:0006851)|negative regulation of mitochondrial calcium ion concentration (GO:0051562)|positive regulation of mitochondrial calcium ion concentration (GO:0051561)	calcium channel complex (GO:0034704)|mitochondrial intermembrane space (GO:0005758)|mitochondrion (GO:0005739)|uniplex complex (GO:1990246)	calcium ion binding (GO:0005509)|protein heterodimerization activity (GO:0046982)										GCATTCTGTTTTTTAACACCC	0.313																																						ENST00000382374.4																			0											c.(1174-1176)aaA>aaG		mitochondrial calcium uptake 2							91	85	87					13																	22069324		2203	4300	6503	SO:0001819	synonymous_variant	221154							g.chr13:22069324T>C	AK091907	CCDS9297.1	13q12.11	2013-03-13	2013-03-13	2013-03-13	ENSG00000165487	ENSG00000165487		"EF-hand domain containing"	31830	protein-coding gene	gene with protein product		610632	"EF hand domain family A1", "EF-hand domain family, member A1"	EFHA1		23409044	Standard	NM_152726		Approved		uc001uof.3	Q8IYU8	OTTHUMG00000067414	ENST00000382374.4:c.1176A>G	13.37:g.22069324T>C						MICU2_ENST00000479790.1_5'UTR	p.K392K	NM_152726.2	NP_689939.1					11	1241	-								Q8N0T6|Q8NAX8	Silent	SNP	ENST00000382374.4	37	c.1176A>G	CCDS9297.1																																																																																				0.313	MICU2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000144355.1	NM_152726		18	21	0	0	0	1	0	18	21					C	22069324	T	C	22069324	2	2	435	1	0	0	0	0	0	0	0	1	4943	1838	64	4		4	EFHA1	13	22069324	Silent	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	322829	22069324	93100554	5984	26909											
SACS	26278	broad.mit.edu	37	chr13	23929388	23929388	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tgggaggcctgtgctgctttCctcaccaggtggtaaaggaa	8	10	14	9	0	1	0	1	0	0	0	2	2	2	2	3	5	2	3	3	5	3	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr13:23929388C>T	ENST00000382292.3	-	7	1636	c.1363G>A	c.(1363-1365)Gaa>Aaa	p.E455K	SACS_ENST00000382298.3_Missense_Mutation_p.E455K|SACS_ENST00000476776.1_5'Flank|SACS_ENST00000402364.1_5'UTR			Q9NZJ4	SACS_HUMAN	sacsin molecular chaperone	455					cell death (GO:0008219)|negative regulation of inclusion body assembly (GO:0090084)|protein folding (GO:0006457)	axon (GO:0030424)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chaperone binding (GO:0051087)|Hsp70 protein binding (GO:0030544)|proteasome binding (GO:0070628)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		GTGCTGCTTTCCTCACCAGGT	0.478																																						ENST00000382298.3																			0				NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189						c.(1363-1365)Gaa>Aaa		spastic ataxia of Charlevoix-Saguenay (sacsin)							67	62	63					13																	23929388		2203	4300	6503	SO:0001583	missense	26278				cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding	g.chr13:23929388C>T	AF193556	CCDS9300.2	13q11	2014-06-13	2014-01-30		ENSG00000151835	ENSG00000151835		"Heat shock proteins / DNAJ (HSP40)"	10519	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 138"	604490	"spastic ataxia of Charlevoix-Saguenay (sacsin)"			10610707, 15057823, 21726565	Standard	NM_001278055		Approved	ARSACS, KIAA0730, DKFZp686B15167, DNAJC29, SPAX6, PPP1R138	uc001uon.3	Q9NZJ4	OTTHUMG00000016562	ENST00000382292.3:c.1363G>A	13.37:g.23929388C>T	ENSP00000371729:p.Glu455Lys					SACS_ENST00000402364.1_5'UTR|SACS_ENST00000382292.3_Missense_Mutation_p.E455K	p.E455K	NM_014363.4	NP_055178.3	Q9NZJ4	SACS_HUMAN		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)	8	1951	-		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)	455					O94835|Q5T9J5|Q5T9J7|Q5T9J8|Q68DF5|Q6MZR4|Q8NBF9	Missense_Mutation	SNP	ENST00000382292.3	37	c.1363G>A	CCDS9300.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	22.6|22.6	4.309292|4.309292	0.81247|0.81247	.|.	.|.	ENSG00000151835|ENSG00000151835	ENST00000382292;ENST00000382298;ENST00000423156|ENST00000455470	T;T;T|.	0.18657|.	2.2;2.2;2.2|.	5.72|5.72	5.72|5.72	0.89469|0.89469	.|.	0.051871|.	0.85682|.	D|.	0.000000|.	T|T	0.70290|0.70290	0.3207|0.3207	L|L	0.47016|0.47016	1.485|1.485	0.58432|0.58432	D|D	0.999998|0.999998	D;D;P|.	0.71674|.	0.998;0.972;0.904|.	D;P;P|.	0.71184|.	0.972;0.861;0.77|.	T|T	0.64296|0.64296	-0.6441|-0.6441	10|5	0.51188|.	T|.	0.08|.	.|.	20.2406|20.2406	0.98372|0.98372	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	354;242;455|.	B2REB1;E9PAL4;Q9NZJ4|.	.;.;SACS_HUMAN|.	K|E	455;455;79|354	ENSP00000371729:E455K;ENSP00000371735:E455K;ENSP00000390925:E79K|.	ENSP00000371729:E455K|.	E|G	-|-	1|2	0|0	SACS|SACS	22827388|22827388	1.000000|1.000000	0.71417|0.71417	0.981000|0.981000	0.43875|0.43875	0.248000|0.248000	0.25809|0.25809	7.764000|7.764000	0.85297|0.85297	2.857000|2.857000	0.98124|0.98124	0.650000|0.650000	0.86243|0.86243	GAA|GGA		0.478	SACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044148.3	NM_014363		20	29	0	0	0	1	0	20	29					T	23929388	C	T	23929388	3	4	435	1	0	0	0	0	1	0	0	0	13804	864	30	3	12388	3	SACS	13	23929388	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	1860064	23929388	91240490	5985	26910											
TNFRSF19	55504	broad.mit.edu	37	chr13	24242129	24242129	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttccctagggccggtgcgCttgctcccatccatgtgctg	3	12	11	15	2	1	0	0	0	1	0	4	0	4	0	4	2	3	3	4	2	1	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr13:24242129C>T	ENST00000382258.4	+	8	951	c.747C>T	c.(745-747)cgC>cgT	p.R249R	TNFRSF19_ENST00000248484.4_Silent_p.R249R|TNFRSF19_ENST00000382263.3_Silent_p.R249R|TNFRSF19_ENST00000403372.2_Silent_p.R117R	NM_018647.3	NP_061117.2	Q9NS68	TNR19_HUMAN	tumor necrosis factor receptor superfamily, member 19	249					apoptotic process (GO:0006915)|hair follicle development (GO:0001942)|JNK cascade (GO:0007254)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	integral component of membrane (GO:0016021)	tumor necrosis factor-activated receptor activity (GO:0005031)			breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|liver(2)|lung(5)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	22		all_cancers(29;3.4e-22)|all_epithelial(30;8.75e-19)|all_lung(29;5.09e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00193)|Epithelial(112;0.0137)|OV - Ovarian serous cystadenocarcinoma(117;0.0465)|GBM - Glioblastoma multiforme(144;0.184)|Lung(94;0.19)		GGCCGGTGCGCTTGCTCCCAT	0.552																																						ENST00000382263.3																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|liver(2)|lung(5)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	22						c.(745-747)cgC>cgT		tumor necrosis factor receptor superfamily, member 19							48	44	45					13																	24242129		2203	4300	6503	SO:0001819	synonymous_variant	55504				apoptosis|induction of apoptosis|JNK cascade	integral to membrane|mitochondrion	tumor necrosis factor receptor activity	g.chr13:24242129C>T	AB040434	CCDS9301.1, CCDS9302.1, CCDS55893.1	13q12.11-q12.3	2008-07-18			ENSG00000127863	ENSG00000127863		"Tumor necrosis factor receptor superfamily"	11915	protein-coding gene	gene with protein product	"toxicity and JNK inducer"	606122				10764796, 10809768	Standard	NM_018647		Approved	TAJ-alpha, TROY, TAJ, TRADE	uc001uov.2	Q9NS68	OTTHUMG00000016568	ENST00000382258.4:c.747C>T	13.37:g.24242129C>T						TNFRSF19_ENST00000403372.2_Silent_p.R117R|TNFRSF19_ENST00000248484.4_Silent_p.R249R|TNFRSF19_ENST00000382258.4_Silent_p.R249R	p.R249R	NM_001204458.1	NP_001191387.1	Q9NS68	TNR19_HUMAN		all cancers(112;0.00193)|Epithelial(112;0.0137)|OV - Ovarian serous cystadenocarcinoma(117;0.0465)|GBM - Glioblastoma multiforme(144;0.184)|Lung(94;0.19)	8	931	+		all_cancers(29;3.4e-22)|all_epithelial(30;8.75e-19)|all_lung(29;5.09e-18)|Lung SC(185;0.0225)|Breast(139;0.128)	249					A8KA09|A8KA26|B1AM40|B1AM41|B4E2I6|Q9BXZ9|Q9BY00|Q9NZV2	Silent	SNP	ENST00000382258.4	37	c.747C>T	CCDS9302.1																																																																																				0.552	TNFRSF19-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000044156.2	NM_018647		3	6	0	0	0	1	0	3	6					T	24242129	C	T	24242129	2	4	435	1	0	0	0	0	0	0	0	1	16289	784	28	3		3	TNFRSF19	13	24242129	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	312741	24242129	90927749	5986	26911											
C1QTNF9B	387911	broad.mit.edu	37	chr13	24465850	24465850	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tggcaagactagagtctcacCgattttccctttctctcctc	7	14	6	14	1	2	2	1	0	2	2	7	3	4	2	3	1	0	1	3	1	2	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr13:24465850C>T	ENST00000382140.2	-	5	640	c.580G>A	c.(580-582)Ggt>Agt	p.G194S	C1QTNF9B_ENST00000556521.1_Intron|C1QTNF9B-AS1_ENST00000435039.2_RNA|MIPEP_ENST00000382172.3_5'Flank|C1QTNF9B_ENST00000382145.1_Intron|C1QTNF9B_ENST00000382137.3_Missense_Mutation_p.G194S|C1QTNF9B-AS1_ENST00000417034.1_RNA|C1QTNF9B-AS1_ENST00000382133.4_RNA|MIPEP_ENST00000469167.1_5'Flank|C1QTNF9B_ENST00000382057.3_Intron			B2RNN3	C1T9B_HUMAN	C1q and tumor necrosis factor related protein 9B	194						collagen trimer (GO:0005581)|extracellular vesicular exosome (GO:0070062)				breast(1)|central_nervous_system(1)|large_intestine(3)|lung(1)	6						AGAGTCTCACCGATTTTCCCT	0.527																																						ENST00000382137.3																			0				breast(1)|central_nervous_system(1)|large_intestine(3)|lung(1)	6						c.(580-582)Ggt>Agt		C1q and tumor necrosis factor related protein 9B							56	60	59					13																	24465850		2203	4295	6498	SO:0001583	missense	387911					collagen		g.chr13:24465850C>T	BC110413	CCDS31947.1	13q12.12	2011-05-08			ENSG00000205863	ENSG00000205863			34072	protein-coding gene	gene with protein product		614148				17544811	Standard	NM_001007537		Approved	CTRP9B	uc010tcv.1	B2RNN3	OTTHUMG00000016570	ENST00000382140.2:c.580G>A	13.37:g.24465850C>T	ENSP00000371575:p.Gly194Ser					C1QTNF9B_ENST00000382145.1_Intron|C1QTNF9B-AS1_ENST00000382133.4_RNA|C1QTNF9B-AS1_ENST00000435039.2_RNA|C1QTNF9B_ENST00000556521.1_Intron|C1QTNF9B_ENST00000382057.3_Intron|C1QTNF9B_ENST00000382140.2_Missense_Mutation_p.G194S|C1QTNF9B-AS1_ENST00000417034.1_RNA	p.G194S	NM_001007537.1	NP_001007538.1	B2RNN3	C1T9B_HUMAN			3	648	-			194					A2A3T6|B9EH31|Q0VGC5|Q5VX65|Q5VX66|Q8IUU4	Missense_Mutation	SNP	ENST00000382140.2	37	c.580G>A	CCDS31947.1	.	.	.	.	.	.	.	.	.	.	c	14.30	2.493173	0.44352	.	.	ENSG00000205863	ENST00000382137;ENST00000382140	D;D	0.99418	-5.87;-5.87	4.26	3.42	0.39159	.	0.000000	0.85682	D	0.000000	D	0.97695	0.9244	L	0.46157	1.445	0.80722	D	1	D	0.56287	0.975	B	0.36845	0.234	D	0.95886	0.8903	10	0.66056	D	0.02	.	12.8389	0.57790	0.0:0.9185:0.0:0.0815	.	194	B2RNN3	C1T9B_HUMAN	S	194	ENSP00000371572:G194S;ENSP00000371575:G194S	ENSP00000371572:G194S	G	-	1	0	C1QTNF9B	23363850	1.000000	0.71417	0.938000	0.37757	0.481000	0.33189	5.511000	0.67024	0.778000	0.33520	-0.680000	0.03767	GGT		0.527	C1QTNF9B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044162.3	NM_001007537		4	44	0	0	0	1	0	4	44					T	24465850	C	T	24465850	3	4	435	1	0	0	0	0	1	0	0	0	1971	652	23	2	424	2	C1QTNF9B	13	24465850	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	223721	24465850	90704028	5987	26912											
SPATA13	221178	broad.mit.edu	37	chr13	24860352	24860352	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	accccactgtctcctttcagCtgatcagtgatggcaacgtg	8	11	9	13	1	3	2	2	2	1	0	4	2	3	2	3	1	2	2	3	1	1	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr13:24860352C>T	ENST00000382095.4	+	5	834	c.427C>T	c.(427-429)Ctg>Ttg	p.L143L	SPATA13_ENST00000424834.2_Splice_Site_p.L768L|SPATA13_ENST00000343003.6_Splice_Site_p.L87L|RP11-307N16.6_ENST00000382141.4_Splice_Site_p.L646L|SPATA13_ENST00000382108.3_Splice_Site_p.L768L|SPATA13_ENST00000409126.1_Splice_Site_p.L65L|SPATA13_ENST00000399949.2_Splice_Site_p.L65L	NM_153023.2	NP_694568.1	Q96N96	SPT13_HUMAN	spermatogenesis associated 13	143	ABR (APC-binding region) domain.				cell migration (GO:0016477)|filopodium assembly (GO:0046847)|lamellipodium assembly (GO:0030032)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Rac GTPase activity (GO:0032855)|regulation of cell migration (GO:0030334)	cytoplasm (GO:0005737)|filopodium (GO:0030175)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|ruffle membrane (GO:0032587)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)			breast(4)|endometrium(2)|large_intestine(9)|lung(4)|ovary(1)|prostate(1)|skin(2)	23		all_cancers(29;4.05e-15)|all_lung(29;2.77e-14)|all_epithelial(30;7.77e-13)|Lung SC(185;0.0279)		all cancers(112;0.00616)|Epithelial(112;0.0195)|OV - Ovarian serous cystadenocarcinoma(117;0.0705)|Lung(94;0.231)		CTCCTTTCAGCTGATCAGTGA	0.587																																						ENST00000424834.2																			0				breast(4)|endometrium(2)|large_intestine(9)|lung(4)|ovary(1)|prostate(1)|skin(2)	23						c.e8-1		spermatogenesis associated 13							126	116	120					13																	24860352		2203	4300	6503	SO:0001630	splice_region_variant	221178				cell migration|filopodium assembly|lamellipodium assembly|regulation of cell migration|regulation of Rho protein signal transduction	cytoplasm|filopodium|lamellipodium|ruffle membrane	protein binding|Rac guanyl-nucleotide exchange factor activity	g.chr13:24860352C>T	AK055770	CCDS9305.1, CCDS53857.1, CCDS66517.1, CCDS66518.1, CCDS73553.1	13q12.13	2013-01-10			ENSG00000182957	ENSG00000182957		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	23222	protein-coding gene	gene with protein product		613324					Standard	NM_001286795		Approved	FLJ31208, ARHGEF29	uc021rhg.1	Q96N96	OTTHUMG00000016578	ENST00000382095.4:c.427-1C>T	13.37:g.24860352C>T						SPATA13_ENST00000382108.3_Splice_Site_p.L768_splice|SPATA13_ENST00000399949.2_Splice_Site_p.L65_splice|SPATA13_ENST00000382095.4_Splice_Site_p.L143_splice|SPATA13_ENST00000409126.1_Splice_Site_p.L65_splice|SPATA13_ENST00000343003.6_Splice_Site_p.L87_splice	p.L768_splice			Q96N96	SPT13_HUMAN		all cancers(112;0.00616)|Epithelial(112;0.0195)|OV - Ovarian serous cystadenocarcinoma(117;0.0705)|Lung(94;0.231)	8	2775	+		all_cancers(29;4.05e-15)|all_lung(29;2.77e-14)|all_epithelial(30;7.77e-13)|Lung SC(185;0.0279)	143					A2VEA9|A6NF85|B4DQB1|B4DSZ0|B4DVM8|J3KPJ7|J3KQH2|Q5VX68|Q6ZML1|Q8N873|Q8TEK6	Splice_Site	SNP	ENST00000382095.4	37	c.2301_splice	CCDS9305.1	.	.	.	.	.	.	.	.	.	.	C	6.777	0.512311	0.12944	.	.	ENSG00000182957	ENST00000424834	.	.	.	5.25	5.25	0.73442	.	.	.	.	.	T	0.63343	0.2503	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.61681	-0.7013	4	.	.	.	.	11.3374	0.49511	0.0:0.9174:0.0:0.0826	.	.	.	.	V	805	.	.	A	+	2	0	SPATA13	23758352	1.000000	0.71417	0.996000	0.52242	0.071000	0.16799	2.349000	0.44054	2.462000	0.83206	0.655000	0.94253	GCT		0.587	SPATA13-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000044180.2	NM_153023	Silent	34	84	0	0	0	1	0	34	84					T	24860352	C	T	24860352	5	4	435	1	0	0	0	0	0	0	1	0	14999	811	28	3	2320	3	SPATA13	13	24860352	Splice_Site	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	394502	24860352	90309526	5988	26913											
C1QTNF9	338872	broad.mit.edu	37	chr13	24890279	24890279	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctggaagagatggacgagaCggagcgaagggtgacaaagg	14	3	18	6	3	0	3	0	1	0	2	0	9	0	6	1	5	1	0	1	5	3	0	rs374313886		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr13:24890279C>T	ENST00000382071.2	+	2	223	c.138C>T	c.(136-138)gaC>gaT	p.D46D	C1QTNF9_ENST00000332018.4_Silent_p.D46D|RP11-307N16.6_ENST00000382141.4_3'UTR|C1QTNF9-AS1_ENST00000449656.1_RNA			P0C862	C1T9A_HUMAN	C1q and tumor necrosis factor related protein 9	46	Collagen-like 1.					collagen trimer (GO:0005581)|extracellular region (GO:0005576)				endometrium(1)|kidney(2)|lung(6)	9		all_cancers(29;3.55e-20)|all_epithelial(30;4.25e-17)|all_lung(29;1.04e-16)|Lung SC(185;0.0225)|Breast(139;0.052)		all cancers(112;0.00565)|Epithelial(112;0.027)|OV - Ovarian serous cystadenocarcinoma(117;0.115)|Lung(94;0.159)		ATGGACGAGACGGAGCGAAGG	0.542																																						ENST00000382071.2																			0				endometrium(1)|kidney(2)|lung(6)	9						c.(136-138)gaC>gaT		C1q and tumor necrosis factor related protein 9		C		0,4406		0,0,2203	81	73	76		138	-7.7	0.8	13		76	1,8591	818.2+/-406.9	0,1,4295	no	coding-synonymous	C1QTNF9	NM_178540.3		0,1,6498	TT,TC,CC		0.0116,0.0,0.0077		46/334	24890279	1,12997	2203	4296	6499	SO:0001819	synonymous_variant	338872					collagen	hormone activity	g.chr13:24890279C>T	BC040438	CCDS9306.1	13q12.12	2010-08-18			ENSG00000240654	ENSG00000240654			28732	protein-coding gene	gene with protein product		614285				12975309, 18787108	Standard	NM_178540		Approved	MGC48915, CTRP9, C1QTNF9A, AQL1	uc001upj.3	P0C862	OTTHUMG00000016576	ENST00000382071.2:c.138C>T	13.37:g.24890279C>T						C1QTNF9_ENST00000332018.4_Silent_p.D46D|C1QTNF9-AS1_ENST00000449656.1_RNA	p.D46D			P0C862	C1T9A_HUMAN		all cancers(112;0.00565)|Epithelial(112;0.027)|OV - Ovarian serous cystadenocarcinoma(117;0.115)|Lung(94;0.159)	2	223	+		all_cancers(29;3.55e-20)|all_epithelial(30;4.25e-17)|all_lung(29;1.04e-16)|Lung SC(185;0.0225)|Breast(139;0.052)	46			Collagen-like 1.		A2A3T6|Q0VGC5|Q5VX65|Q5VX66|Q8IUU4	Silent	SNP	ENST00000382071.2	37	c.138C>T	CCDS9306.1																																																																																				0.542	C1QTNF9-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044177.1	NM_178540		24	21	0	0	0	1	0	24	21					T	24890279	C	T	24890279	2	4	435	1	0	0	0	0	0	0	0	1	1970	535	19	1		1	C1QTNF9	13	24890279	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	29927	24890279	90279599	5989	26914											
PARP4	143	broad.mit.edu	37	chr13	25026729	25026729	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttccccatggtaggtgtggcAgactggaggaaatgaagtga	11	9	15	6	0	0	3	0	2	0	1	1	5	1	5	2	5	0	2	2	5	3	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr13:25026729A>T	ENST00000381989.3	-	24	2934	c.2829T>A	c.(2827-2829)tcT>tcA	p.S943S		NM_006437.3	NP_006428.2	Q9UKK3	PARP4_HUMAN	poly (ADP-ribose) polymerase family, member 4	943	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell death (GO:0008219)|cellular protein modification process (GO:0006464)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|inflammatory response (GO:0006954)|protein ADP-ribosylation (GO:0006471)|response to drug (GO:0042493)|transport (GO:0006810)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|spindle microtubule (GO:0005876)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|NAD+ ADP-ribosyltransferase activity (GO:0003950)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(18)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63		all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052)		all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195)		TAGGTGTGGCAGACTGGAGGA	0.468																																						ENST00000381989.3																			0				autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(18)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63						c.(2827-2829)tcT>tcA		poly (ADP-ribose) polymerase family, member 4							109	108	109					13																	25026729		2203	4300	6503	SO:0001819	synonymous_variant	143				cell death|DNA repair|inflammatory response|protein ADP-ribosylation|response to drug|transport	cytoplasm|nucleus|ribonucleoprotein complex|spindle microtubule	DNA binding|enzyme binding|NAD+ ADP-ribosyltransferase activity	g.chr13:25026729A>T	AF057160	CCDS9307.1	13q11	2010-09-29	2004-08-20	2004-08-26	ENSG00000102699	ENSG00000102699		"Poly (ADP-ribose) polymerases"	271	protein-coding gene	gene with protein product	"von Willebrand factor A domain containing 5C"	607519	"ADP-ribosyltransferase (NAD+; poly (ADP-ribose) polymerase)-like 1"	ADPRTL1		10644454	Standard	NM_006437		Approved	VAULT3, p193, VPARP, VWA5C	uc001upl.3	Q9UKK3	OTTHUMG00000016582	ENST00000381989.3:c.2829T>A	13.37:g.25026729A>T							p.S943S	NM_006437.3	NP_006428.2	Q9UKK3	PARP4_HUMAN		all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195)	24	2934	-		all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052)	943			VWFA.		O75903|Q14682|Q5QNZ9|Q9H1M6	Silent	SNP	ENST00000381989.3	37	c.2829T>A	CCDS9307.1																																																																																				0.468	PARP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044189.1	NM_006437		18	65	0	0	0	1	0	18	65					T	25026729	A	T	25026729	2	4	435	1	0	0	0	0	0	0	0	1	11463	175	7	5		5	PARP4	13	25026729	Silent	SNP	A	TCGA-XK-AAIW-01A-11D-A41K-08	136450	25026729	90143149	5990	26915											
PARP4	143	broad.mit.edu	37	chr13	25051910	25051910	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatgatcactaggatgaaagTcctttatctgatctccaggc	11	13	8	9	0	3	3	1	3	2	0	5	4	4	4	2	2	0	0	2	2	4	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr13:25051910T>A	ENST00000381989.3	-	14	1823	c.1718A>T	c.(1717-1719)gAc>gTc	p.D573V		NM_006437.3	NP_006428.2	Q9UKK3	PARP4_HUMAN	poly (ADP-ribose) polymerase family, member 4	573	PARP catalytic. {ECO:0000255|PROSITE- ProRule:PRU00397}.				cell death (GO:0008219)|cellular protein modification process (GO:0006464)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|inflammatory response (GO:0006954)|protein ADP-ribosylation (GO:0006471)|response to drug (GO:0042493)|transport (GO:0006810)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|spindle microtubule (GO:0005876)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|NAD+ ADP-ribosyltransferase activity (GO:0003950)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(18)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63		all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052)		all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195)		AGGATGAAAGTCCTTTATCTG	0.313																																						ENST00000381989.3																			0				autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(18)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63						c.(1717-1719)gAc>gTc		poly (ADP-ribose) polymerase family, member 4							49	54	52					13																	25051910		2202	4290	6492	SO:0001583	missense	143				cell death|DNA repair|inflammatory response|protein ADP-ribosylation|response to drug|transport	cytoplasm|nucleus|ribonucleoprotein complex|spindle microtubule	DNA binding|enzyme binding|NAD+ ADP-ribosyltransferase activity	g.chr13:25051910T>A	AF057160	CCDS9307.1	13q11	2010-09-29	2004-08-20	2004-08-26	ENSG00000102699	ENSG00000102699		"Poly (ADP-ribose) polymerases"	271	protein-coding gene	gene with protein product	"von Willebrand factor A domain containing 5C"	607519	"ADP-ribosyltransferase (NAD+; poly (ADP-ribose) polymerase)-like 1"	ADPRTL1		10644454	Standard	NM_006437		Approved	VAULT3, p193, VPARP, VWA5C	uc001upl.3	Q9UKK3	OTTHUMG00000016582	ENST00000381989.3:c.1718A>T	13.37:g.25051910T>A	ENSP00000371419:p.Asp573Val						p.D573V	NM_006437.3	NP_006428.2	Q9UKK3	PARP4_HUMAN		all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195)	14	1823	-		all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052)	573			PARP catalytic.		O75903|Q14682|Q5QNZ9|Q9H1M6	Missense_Mutation	SNP	ENST00000381989.3	37	c.1718A>T	CCDS9307.1	.	.	.	.	.	.	.	.	.	.	T	15.27	2.783890	0.49891	.	.	ENSG00000102699	ENST00000381989	T	0.01963	4.53	3.98	2.78	0.32641	Poly(ADP-ribose) polymerase, catalytic domain (1);	0.745945	0.12547	N	0.459364	T	0.05364	0.0142	L	0.57536	1.79	0.45852	D	0.998715	P	0.52316	0.952	P	0.52267	0.694	T	0.44143	-0.9347	10	0.59425	D	0.04	-6.2286	5.9049	0.18992	0.0:0.1214:0.0:0.8786	.	573	Q9UKK3	PARP4_HUMAN	V	573	ENSP00000371419:D573V	ENSP00000371419:D573V	D	-	2	0	PARP4	23949910	0.771000	0.28555	0.963000	0.40424	0.941000	0.58515	0.662000	0.25038	0.591000	0.29711	0.524000	0.50904	GAC		0.313	PARP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044189.1	NM_006437		47	60	0	0	0	1	0	47	60					A	25051910	T	A	25051910	3	1	435	1	0	0	0	0	1	0	0	0	11463	1667	58	5	3540	5	PARP4	13	25051910	Missense_Mutation	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	25181	25051910	90117968	5991	26916											
CENPJ	55835	broad.mit.edu	37	chr13	25480619	25480619	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agtctgtctttaccttgtgtCttattccaccctgtgcagcc	5	16	7	13	0	3	0	0	0	3	0	4	0	4	0	4	0	3	1	4	0	2	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr13:25480619C>T	ENST00000381884.4	-	7	1742	c.1557G>A	c.(1555-1557)aaG>aaA	p.K519K	CENPJ_ENST00000545981.1_Silent_p.K519K	NM_018451.4	NP_060921.3	Q9HC77	CENPJ_HUMAN	centromere protein J	519					cell division (GO:0051301)|centriole replication (GO:0007099)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|microtubule polymerization (GO:0046785)|mitotic cell cycle (GO:0000278)|regulation of centriole replication (GO:0046599)	centriole (GO:0005814)|centrosome (GO:0005813)|cytosol (GO:0005829)|gamma-tubulin small complex (GO:0008275)|microtubule (GO:0005874)	protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)|tubulin binding (GO:0015631)			endometrium(5)|kidney(4)|large_intestine(14)|lung(13)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.00793)|Epithelial(112;0.0411)|OV - Ovarian serous cystadenocarcinoma(117;0.139)		TACCTTGTGTCTTATTCCACC	0.453																																						ENST00000381884.4																			0				endometrium(5)|kidney(4)|large_intestine(14)|lung(13)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						c.(1555-1557)aaG>aaA		centromere protein J							73	78	76					13																	25480619		2203	4299	6502	SO:0001819	synonymous_variant	55835				cell division|centriole replication|G2/M transition of mitotic cell cycle|microtubule nucleation|microtubule polymerization	centriole|cytosol|gamma-tubulin small complex|microtubule	protein domain specific binding|tubulin binding	g.chr13:25480619C>T	AF139625	CCDS9310.1	13q12.12	2013-11-05			ENSG00000151849	ENSG00000151849			17272	protein-coding gene	gene with protein product	"centrosomal P4.1-associated protein"	609279	"microcephaly, primary autosomal recessive 6"	MCPH6		11003675, 22699936	Standard	NM_018451		Approved	CPAP, BM032, LAP, LIP1, Sas-4, SASS4, SCKL4	uc001upt.5	Q9HC77	OTTHUMG00000016595	ENST00000381884.4:c.1557G>A	13.37:g.25480619C>T						CENPJ_ENST00000545981.1_Silent_p.K519K	p.K519K	NM_018451.4	NP_060921.3	Q9HC77	CENPJ_HUMAN		all cancers(112;0.00793)|Epithelial(112;0.0411)|OV - Ovarian serous cystadenocarcinoma(117;0.139)	7	1742	-		Lung SC(185;0.0225)|Breast(139;0.0602)	519					Q2KHM6|Q5JPD5|Q5T6R5|Q96KS5|Q9C067	Silent	SNP	ENST00000381884.4	37	c.1557G>A	CCDS9310.1																																																																																				0.453	CENPJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044209.1	NM_018451		28	62	0	0	0	1	0	28	62					T	25480619	C	T	25480619	2	4	435	1	0	0	0	0	0	0	0	1	3234	912	32	3		3	CENPJ	13	25480619	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	428709	25480619	89689259	5992	26917											
CENPJ	55835	broad.mit.edu	37	chr13	25486986	25486986	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgaagctatcagaaaaatGtgtgcctttaataggaaagc	15	10	10	6	0	1	2	1	1	0	1	1	3	1	3	1	1	3	2	1	1	7	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr13:25486986G>A	ENST00000381884.4	-	2	363	c.178C>T	c.(178-180)Cat>Tat	p.H60Y	CENPJ_ENST00000545981.1_Missense_Mutation_p.H60Y	NM_018451.4	NP_060921.3	Q9HC77	CENPJ_HUMAN	centromere protein J	60					cell division (GO:0051301)|centriole replication (GO:0007099)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|microtubule polymerization (GO:0046785)|mitotic cell cycle (GO:0000278)|regulation of centriole replication (GO:0046599)	centriole (GO:0005814)|centrosome (GO:0005813)|cytosol (GO:0005829)|gamma-tubulin small complex (GO:0008275)|microtubule (GO:0005874)	protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)|tubulin binding (GO:0015631)			endometrium(5)|kidney(4)|large_intestine(14)|lung(13)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.00793)|Epithelial(112;0.0411)|OV - Ovarian serous cystadenocarcinoma(117;0.139)		TCAGAAAAATGTGTGCCTTTA	0.393																																						ENST00000381884.4																			0				endometrium(5)|kidney(4)|large_intestine(14)|lung(13)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						c.(178-180)Cat>Tat		centromere protein J							114	116	115					13																	25486986		2203	4300	6503	SO:0001583	missense	55835				cell division|centriole replication|G2/M transition of mitotic cell cycle|microtubule nucleation|microtubule polymerization	centriole|cytosol|gamma-tubulin small complex|microtubule	protein domain specific binding|tubulin binding	g.chr13:25486986G>A	AF139625	CCDS9310.1	13q12.12	2013-11-05			ENSG00000151849	ENSG00000151849			17272	protein-coding gene	gene with protein product	"centrosomal P4.1-associated protein"	609279	"microcephaly, primary autosomal recessive 6"	MCPH6		11003675, 22699936	Standard	NM_018451		Approved	CPAP, BM032, LAP, LIP1, Sas-4, SASS4, SCKL4	uc001upt.5	Q9HC77	OTTHUMG00000016595	ENST00000381884.4:c.178C>T	13.37:g.25486986G>A	ENSP00000371308:p.His60Tyr					CENPJ_ENST00000545981.1_Missense_Mutation_p.H60Y	p.H60Y	NM_018451.4	NP_060921.3	Q9HC77	CENPJ_HUMAN		all cancers(112;0.00793)|Epithelial(112;0.0411)|OV - Ovarian serous cystadenocarcinoma(117;0.139)	2	363	-		Lung SC(185;0.0225)|Breast(139;0.0602)	60					Q2KHM6|Q5JPD5|Q5T6R5|Q96KS5|Q9C067	Missense_Mutation	SNP	ENST00000381884.4	37	c.178C>T	CCDS9310.1	.	.	.	.	.	.	.	.	.	.	G	5.241	0.229937	0.09969	.	.	ENSG00000151849	ENST00000381884;ENST00000545981;ENST00000445729	T;T	0.16897	2.31;2.31	5.28	-0.0798	0.13709	.	1.350010	0.04494	N	0.380152	T	0.20047	0.0482	M	0.64997	1.995	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.37526	-0.9702	10	0.66056	D	0.02	.	6.8348	0.23931	0.0742:0.3539:0.4627:0.1092	.	60	Q9HC77	CENPJ_HUMAN	Y	60	ENSP00000371308:H60Y;ENSP00000441090:H60Y	ENSP00000371308:H60Y	H	-	1	0	CENPJ	24384986	0.000000	0.05858	0.003000	0.11579	0.049000	0.14656	0.546000	0.23284	-0.014000	0.14175	0.655000	0.94253	CAT		0.393	CENPJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044209.1	NM_018451		29	55	0	0	0	1	0	29	55					A	25486986	G	A	25486986	3	1	435	1	0	0	0	0	1	0	0	0	3234	1377	48	3	3902	3	CENPJ	13	25486986	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	6367	25486986	89682892	5993	26918											
NUPL1	9818	broad.mit.edu	37	chr13	25881944	25881944	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tttttgtttctttaaataagCaacccttctgtggggctcaa	9	17	7	8	0	3	0	1	0	2	0	3	0	3	0	1	2	2	3	1	2	5	7			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr13:25881944C>A	ENST00000381736.3	+	2	358	c.108C>A	c.(106-108)agC>agA	p.S36R	NUPL1_ENST00000466694.1_3'UTR|NUPL1_ENST00000463407.1_Splice_Site_p.S36R|NUPL1_ENST00000381718.3_Splice_Site_p.S36R	NM_001008564.1|NM_014089.3	NP_001008564.1|NP_054808.1	Q9BVL2	NUPL1_HUMAN	nucleoporin like 1	36	14 X 2 AA repeats of F-G.				carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)	nucleocytoplasmic transporter activity (GO:0005487)			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|stomach(1)|urinary_tract(1)	16		Lung SC(185;0.0225)|Breast(139;0.0351)		all cancers(112;0.0092)|Epithelial(112;0.0477)|OV - Ovarian serous cystadenocarcinoma(117;0.165)|GBM - Glioblastoma multiforme(144;0.244)		TTTAAATAAGCAACCCTTCTG	0.363																																					Pancreas(166;1040 2004 4560 4728 37041)|GBM(109;1045 1520 7614 9308 19618)	ENST00000463407.1																			0				breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|stomach(1)|urinary_tract(1)	16						c.e2-1		nucleoporin like 1							51	56	55					13																	25881944		2203	4300	6503	SO:0001630	splice_region_variant	9818				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear membrane|nuclear pore		g.chr13:25881944C>A	AB007870	CCDS9314.1, CCDS31949.1	13q12.12	2011-04-12			ENSG00000139496	ENSG00000139496			20261	protein-coding gene	gene with protein product		607615				9455477	Standard	NM_014089		Approved	KIAA0410	uc001uqi.3	Q9BVL2	OTTHUMG00000016608	ENST00000381736.3:c.108-1C>A	13.37:g.25881944C>A						NUPL1_ENST00000381736.3_Splice_Site_p.S36_splice|NUPL1_ENST00000381718.3_Splice_Site_p.S36_splice|NUPL1_ENST00000466694.1_3'UTR	p.S36_splice			Q9BVL2	NUPL1_HUMAN		all cancers(112;0.0092)|Epithelial(112;0.0477)|OV - Ovarian serous cystadenocarcinoma(117;0.165)|GBM - Glioblastoma multiforme(144;0.244)	2	251	+		Lung SC(185;0.0225)|Breast(139;0.0351)	36			14 X 2 AA repeats of F-G.		A6NI12|B4DZJ1|O43160|Q5JRG2|Q5JRG5	Splice_Site	SNP	ENST00000381736.3	37	c.107_splice	CCDS9314.1	.	.	.	.	.	.	.	.	.	.	C	13.11	2.138408	0.37728	.	.	ENSG00000139496	ENST00000381736;ENST00000381745;ENST00000313619;ENST00000463407;ENST00000381718;ENST00000381747	T;T;T;T	0.39056	1.35;1.34;1.1;1.31	5.72	3.92	0.45320	.	0.171472	0.50627	D	0.000107	T	0.51839	0.1698	L	0.51422	1.61	0.50632	D	0.999885	D;D;D	0.64830	0.994;0.994;0.994	D;D;D	0.71870	0.975;0.975;0.975	T	0.46275	-0.9203	9	.	.	.	.	6.7078	0.23260	0.0:0.559:0.0:0.441	.	36;36;36	A6NI12;Q9BVL2;Q9BVL2-2	.;NUPL1_HUMAN;.	R	36;36;13;36;36;36	ENSP00000371155:S36R;ENSP00000418555:S36R;ENSP00000371137:S36R;ENSP00000371166:S36R	.	S	+	3	2	NUPL1	24779944	1.000000	0.71417	0.999000	0.59377	0.632000	0.37999	0.696000	0.25541	0.684000	0.31448	0.655000	0.94253	AGC		0.363	NUPL1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000044228.2		Missense_Mutation	29	38	1	0	7.11191e-15	1	7.77369e-15	29	38					A	25881944	C	A	25881944	5	1	435	1	0	0	0	0	0	0	1	0	10774	724	25	5	114	5	NUPL1	13	25881944	Splice_Site	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	394958	25881944	89287934	5994	26919											
NUPL1	9818	broad.mit.edu	37	chr13	25887831	25887831	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tcaacaggcctctctttaggGggagccttagctggtttggg	6	12	14	9	0	2	0	1	0	1	0	3	1	2	1	2	5	3	2	2	5	3	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr13:25887831G>A	ENST00000381736.3	+	5	766	c.516G>A	c.(514-516)ggG>ggA	p.G172G	NUPL1_ENST00000466694.1_3'UTR|NUPL1_ENST00000463407.1_Silent_p.G172G|NUPL1_ENST00000381718.3_Silent_p.G160G	NM_001008564.1|NM_014089.3	NP_001008564.1|NP_054808.1	Q9BVL2	NUPL1_HUMAN	nucleoporin like 1	172	14 X 2 AA repeats of F-G.				carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)	nucleocytoplasmic transporter activity (GO:0005487)			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|stomach(1)|urinary_tract(1)	16		Lung SC(185;0.0225)|Breast(139;0.0351)		all cancers(112;0.0092)|Epithelial(112;0.0477)|OV - Ovarian serous cystadenocarcinoma(117;0.165)|GBM - Glioblastoma multiforme(144;0.244)		TCTCTTTAGGGGGAGCCTTAG	0.388																																					Pancreas(166;1040 2004 4560 4728 37041)|GBM(109;1045 1520 7614 9308 19618)	ENST00000463407.1																			0				breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|stomach(1)|urinary_tract(1)	16						c.(514-516)ggG>ggA		nucleoporin like 1							91	89	90					13																	25887831		2203	4300	6503	SO:0001819	synonymous_variant	9818				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear membrane|nuclear pore		g.chr13:25887831G>A	AB007870	CCDS9314.1, CCDS31949.1	13q12.12	2011-04-12			ENSG00000139496	ENSG00000139496			20261	protein-coding gene	gene with protein product		607615				9455477	Standard	NM_014089		Approved	KIAA0410	uc001uqi.3	Q9BVL2	OTTHUMG00000016608	ENST00000381736.3:c.516G>A	13.37:g.25887831G>A						NUPL1_ENST00000381736.3_Silent_p.G172G|NUPL1_ENST00000381718.3_Silent_p.G160G|NUPL1_ENST00000466694.1_3'UTR	p.G172G			Q9BVL2	NUPL1_HUMAN		all cancers(112;0.0092)|Epithelial(112;0.0477)|OV - Ovarian serous cystadenocarcinoma(117;0.165)|GBM - Glioblastoma multiforme(144;0.244)	5	659	+		Lung SC(185;0.0225)|Breast(139;0.0351)	172			14 X 2 AA repeats of F-G.		A6NI12|B4DZJ1|O43160|Q5JRG2|Q5JRG5	Silent	SNP	ENST00000381736.3	37	c.516G>A	CCDS9314.1																																																																																				0.388	NUPL1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000044228.2			22	64	0	0	0	1	0	22	64					A	25887831	G	A	25887831	2	1	435	1	0	0	0	0	0	0	0	1	10774	1219	43	3		3	NUPL1	13	25887831	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	5887	25887831	89282047	5995	26920											
SHISA2	387914	broad.mit.edu	37	chr13	26620664	26620664	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctctcggttatacagtcaccGctgggtacatcttctgttca	7	14	8	12	2	5	0	2	0	3	0	6	0	5	0	1	2	2	4	1	2	3	5	rs376374452		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr13:26620664G>A	ENST00000319420.3	-	2	930	c.875C>T	c.(874-876)gCg>gTg	p.A292V		NM_001007538.1	NP_001007539.1	Q6UWI4	SHSA2_HUMAN	shisa family member 2	292					multicellular organismal development (GO:0007275)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(2)|skin(1)	17						TACAGTCACCGCTGGGTACAT	0.557																																						ENST00000319420.3																			0				central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(2)|skin(1)	17						c.(874-876)gCg>gTg		shisa family member 2		G	VAL/ALA	0,4406		0,0,2203	85	78	80		875	4.2	0.2	13		80	1,8599	1.2+/-3.3	0,1,4299	no	missense	SHISA2	NM_001007538.1	64	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging	292/296	26620664	1,13005	2203	4300	6503	SO:0001583	missense	387914				multicellular organismal development	endoplasmic reticulum membrane|integral to membrane		g.chr13:26620664G>A		CCDS31951.1	13q12.13	2013-07-31	2013-07-31	2008-04-01	ENSG00000180730	ENSG00000180730		"Shisa homologs"	20366	protein-coding gene	gene with protein product			"chromosome 13 open reading frame 13", "transmembrane protein 46", "shisa homolog 2 (Xenopus laevis)"	C13orf13, TMEM46			Standard	NM_001007538		Approved	bA398O19.2, PRO28631, WGAR9166, hShisa	uc001uqm.1	Q6UWI4	OTTHUMG00000016612	ENST00000319420.3:c.875C>T	13.37:g.26620664G>A	ENSP00000313079:p.Ala292Val						p.A292V	NM_001007538.1	NP_001007539.1	Q6UWI4	SHSA2_HUMAN			2	930	-			292					B9EH70|Q5W0G8	Missense_Mutation	SNP	ENST00000319420.3	37	c.875C>T	CCDS31951.1	.	.	.	.	.	.	.	.	.	.	G	17.51	3.408791	0.62399	0.0	1.16E-4	ENSG00000180730	ENST00000319420	T	0.53857	0.6	5.05	4.21	0.49690	.	0.249971	0.35207	N	0.003371	T	0.38931	0.1059	N	0.19112	0.55	0.53005	D	0.999963	B	0.11235	0.004	B	0.08055	0.003	T	0.26677	-1.0096	10	0.62326	D	0.03	-12.3738	13.825	0.63346	0.0742:0.0:0.9258:0.0	.	292	Q6UWI4	SHSA2_HUMAN	V	292	ENSP00000313079:A292V	ENSP00000313079:A292V	A	-	2	0	SHISA2	25518664	1.000000	0.71417	0.246000	0.24233	0.934000	0.57294	6.013000	0.70776	1.355000	0.45865	0.650000	0.86243	GCG		0.557	SHISA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044239.2	NM_001007538		25	28	0	0	0	1	0	25	28					A	26620664	G	A	26620664	3	1	435	1	0	0	0	0	1	0	0	0	14280	1087	38	1	16	1	SHISA2	13	26620664	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	732833	26620664	88549214	5996	26921											
SHISA2	387914	broad.mit.edu	37	chr13	26621051	26621051	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cactggggatcatggggatgGtctccatcaagcggttaccc	8	9	13	11	1	3	0	2	0	1	0	4	2	3	2	2	6	2	1	2	6	2	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr13:26621051G>A	ENST00000319420.3	-	2	543	c.488C>T	c.(487-489)aCc>aTc	p.T163I		NM_001007538.1	NP_001007539.1	Q6UWI4	SHSA2_HUMAN	shisa family member 2	163					multicellular organismal development (GO:0007275)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(2)|skin(1)	17						CATGGGGATGGTCTCCATCAA	0.662																																						ENST00000319420.3																			0				central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(2)|skin(1)	17						c.(487-489)aCc>aTc		shisa family member 2							41	44	43					13																	26621051		2203	4300	6503	SO:0001583	missense	387914				multicellular organismal development	endoplasmic reticulum membrane|integral to membrane		g.chr13:26621051G>A		CCDS31951.1	13q12.13	2013-07-31	2013-07-31	2008-04-01	ENSG00000180730	ENSG00000180730		"Shisa homologs"	20366	protein-coding gene	gene with protein product			"chromosome 13 open reading frame 13", "transmembrane protein 46", "shisa homolog 2 (Xenopus laevis)"	C13orf13, TMEM46			Standard	NM_001007538		Approved	bA398O19.2, PRO28631, WGAR9166, hShisa	uc001uqm.1	Q6UWI4	OTTHUMG00000016612	ENST00000319420.3:c.488C>T	13.37:g.26621051G>A	ENSP00000313079:p.Thr163Ile						p.T163I	NM_001007538.1	NP_001007539.1	Q6UWI4	SHSA2_HUMAN			2	543	-			163					B9EH70|Q5W0G8	Missense_Mutation	SNP	ENST00000319420.3	37	c.488C>T	CCDS31951.1	.	.	.	.	.	.	.	.	.	.	G	26.1	4.700247	0.88924	.	.	ENSG00000180730	ENST00000319420	T	0.45668	0.89	4.83	4.83	0.62350	.	0.000000	0.85682	D	0.000000	T	0.62295	0.2416	L	0.59436	1.845	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	T	0.64884	-0.6302	10	0.56958	D	0.05	-53.775	17.9632	0.89092	0.0:0.0:1.0:0.0	.	163	Q6UWI4	SHSA2_HUMAN	I	163	ENSP00000313079:T163I	ENSP00000313079:T163I	T	-	2	0	SHISA2	25519051	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.800000	0.99124	2.235000	0.73313	0.557000	0.71058	ACC		0.662	SHISA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044239.2	NM_001007538		15	26	0	0	0	1	0	15	26					A	26621051	G	A	26621051	3	1	435	1	0	0	0	0	1	0	0	0	14280	1261	44	3	403	3	SHISA2	13	26621051	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	387	26621051	88548827	5997	26922											
RNF6	6049	broad.mit.edu	37	chr13	26793670	26793670	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcattaataaactgataataGgcctcttctctgtggagacg	12	13	8	8	1	3	2	1	1	2	1	4	3	3	2	1	2	1	0	1	2	5	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr13:26793670G>T	ENST00000381588.4	-	3	869	c.117C>A	c.(115-117)gcC>gcA	p.A39A	RNF6_ENST00000381570.3_Silent_p.A39A|RNF6_ENST00000468480.1_5'UTR|RNF6_ENST00000346166.3_Silent_p.A39A|RNF6_ENST00000399762.2_5'UTR	NM_005977.3	NP_005968.1	Q9Y252	RNF6_HUMAN	ring finger protein (C3H2C3 type) 6	39					negative regulation of axon extension (GO:0030517)|positive regulation of transcription, DNA-templated (GO:0045893)|protein K27-linked ubiquitination (GO:0044314)|protein K48-linked ubiquitination (GO:0070936)|protein K6-linked ubiquitination (GO:0085020)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of transcription, DNA-templated (GO:0006355)|ubiquitin-dependent protein catabolic process (GO:0006511)	axon (GO:0030424)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|PML body (GO:0016605)	androgen receptor binding (GO:0050681)|DNA binding (GO:0003677)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|kidney(1)|large_intestine(9)|lung(3)|ovary(2)|prostate(2)|skin(2)	23	Colorectal(5;0.000442)	Lung SC(185;0.0156)|Breast(139;0.147)		all cancers(112;0.00893)|Epithelial(112;0.0481)|OV - Ovarian serous cystadenocarcinoma(117;0.148)|GBM - Glioblastoma multiforme(144;0.23)|Lung(94;0.245)		ACTGATAATAGGCCTCTTCTC	0.413																																						ENST00000381588.4																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(9)|lung(3)|ovary(2)|prostate(2)|skin(2)	23						c.(115-117)gcC>gcA		ring finger protein (C3H2C3 type) 6							164	155	158					13																	26793670		2203	4300	6503	SO:0001819	synonymous_variant	6049				negative regulation of axon extension|positive regulation of transcription, DNA-dependent|protein K27-linked ubiquitination|protein K48-linked ubiquitination|protein K6-linked ubiquitination|regulation of androgen receptor signaling pathway|ubiquitin-dependent protein catabolic process	axon|cytoplasm|PML body	androgen receptor binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr13:26793670G>T	AJ010346	CCDS9316.1	13q12.2	2013-01-09			ENSG00000127870	ENSG00000127870		"RING-type (C3HC4) zinc fingers"	10069	protein-coding gene	gene with protein product	"RING-H2 protein RNF-6"	604242				10331950	Standard	NM_005977		Approved	DKFZp686P0776	uc001uqq.3	Q9Y252	OTTHUMG00000016614	ENST00000381588.4:c.117C>A	13.37:g.26793670G>T						RNF6_ENST00000346166.3_Silent_p.A39A|RNF6_ENST00000399762.2_5'UTR|RNF6_ENST00000381570.3_Silent_p.A39A|RNF6_ENST00000468480.1_5'UTR	p.A39A	NM_005977.3	NP_005968.1	Q9Y252	RNF6_HUMAN		all cancers(112;0.00893)|Epithelial(112;0.0481)|OV - Ovarian serous cystadenocarcinoma(117;0.148)|GBM - Glioblastoma multiforme(144;0.23)|Lung(94;0.245)	3	869	-	Colorectal(5;0.000442)	Lung SC(185;0.0156)|Breast(139;0.147)	39					B4DDP0|Q5W0H0|Q9BZP5|Q9UF41	Silent	SNP	ENST00000381588.4	37	c.117C>A	CCDS9316.1																																																																																				0.413	RNF6-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044246.2	NM_005977		26	43	1	0	1.55469e-16	1	1.7083e-16	26	43					T	26793670	G	T	26793670	2	4	435	1	0	0	0	0	0	0	0	1	13498	987	35	5		5	RNF6	13	26793670	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	172619	26793670	88376208	5998	26923											
GPR12	2835	broad.mit.edu	37	chr13	27333935	27333935	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaataatcccgaggcagcccGcttaaattgaccttcaggtc	12	9	8	12	2	1	1	1	1	0	0	3	2	2	1	3	2	1	2	3	2	4	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr13:27333935G>A	ENST00000381436.2	-	1	492	c.30C>T	c.(28-30)agC>agT	p.S10S	GPR12_ENST00000405846.3_Silent_p.S10S			P47775	GPR12_HUMAN	G protein-coupled receptor 12	10					cellular calcium ion homeostasis (GO:0006874)|G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)|phosphatidylcholine binding (GO:0031210)			endometrium(7)|kidney(2)|large_intestine(6)|lung(14)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33	Colorectal(5;5.77e-05)	Breast(139;0.198)		Epithelial(112;9.37e-07)|OV - Ovarian serous cystadenocarcinoma(117;1.16e-06)|all cancers(112;8.31e-06)|GBM - Glioblastoma multiforme(144;0.00121)|Lung(94;0.111)|LUSC - Lung squamous cell carcinoma(192;0.184)		GAGGCAGCCCGCTTAAATTGA	0.502																																						ENST00000405846.3																			0				endometrium(7)|kidney(2)|large_intestine(6)|lung(14)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33						c.(28-30)agC>agT		G protein-coupled receptor 12							37	43	41					13																	27333935		2199	4300	6499	SO:0001819	synonymous_variant	0					integral to plasma membrane		g.chr13:27333935G>A	U18548	CCDS9319.1	13q12	2014-06-12			ENSG00000132975	ENSG00000132975		"GPCR / Class A : Orphans"	4466	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 84"	600752				8262253, 8530049	Standard	NM_005288		Approved	GPCR21, PPP1R84	uc010aal.3	P47775	OTTHUMG00000016620	ENST00000381436.2:c.30C>T	13.37:g.27333935G>A						GPR12_ENST00000381436.2_Silent_p.S10S	p.S10S	NM_005288.3	NP_005279.1	P47775	GPR12_HUMAN		Epithelial(112;9.37e-07)|OV - Ovarian serous cystadenocarcinoma(117;1.16e-06)|all cancers(112;8.31e-06)|GBM - Glioblastoma multiforme(144;0.00121)|Lung(94;0.111)|LUSC - Lung squamous cell carcinoma(192;0.184)	2	251	-	Colorectal(5;5.77e-05)	Breast(139;0.198)	10					Q5T8P3	Silent	SNP	ENST00000381436.2	37	c.30C>T	CCDS9319.1																																																																																				0.502	GPR12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044257.2			21	26	0	0	0	1	0	21	26					A	27333935	G	A	27333935	2	1	435	1	0	0	0	0	0	0	0	1	6635	1078	38	1		1	GPR12	13	27333935	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	540265	27333935	87835943	5999	26924											
USP12	219333	broad.mit.edu	37	chr13	27669938	27669938	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtaatttaagaattcatgggCatcttgttgcatgtagttgt	10	17	10	4	0	2	1	1	0	1	1	2	1	2	1	0	1	1	6	0	1	4	8			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr13:27669938C>T	ENST00000282344.6	-	4	629	c.373G>A	c.(373-375)Gcc>Acc	p.A125T		NM_182488.3	NP_872294.2	O75317	UBP12_HUMAN	ubiquitin specific peptidase 12	125	USP.				protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type endopeptidase activity (GO:0004197)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			breast(3)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Lung SC(185;0.0161)		all cancers(112;0.0508)|GBM - Glioblastoma multiforme(144;0.168)|Epithelial(112;0.244)|OV - Ovarian serous cystadenocarcinoma(117;0.246)		AATTCATGGGCATCTTGTTGC	0.264																																					Ovarian(37;808 911 7590 44442 44991)	ENST00000282344.6																			0				breast(3)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						c.(373-375)Gcc>Acc		ubiquitin specific peptidase 12							44	46	45					13																	27669938		2203	4296	6499	SO:0001583	missense	219333				protein deubiquitination|ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr13:27669938C>T	AL049221	CCDS31952.1	13q12.13	2010-05-12	2005-08-08	2003-10-08	ENSG00000152484	ENSG00000152484		"Ubiquitin-specific peptidases"	20485	protein-coding gene	gene with protein product			"ubiquitin specific protease 12 like 1", "ubiquitin specific protease 12"	USP12L1		12838346	Standard	NM_182488		Approved		uc001uqy.3	O75317	OTTHUMG00000016626	ENST00000282344.6:c.373G>A	13.37:g.27669938C>T	ENSP00000282344:p.Ala125Thr						p.A125T	NM_182488.3	NP_872294.2	O75317	UBP12_HUMAN		all cancers(112;0.0508)|GBM - Glioblastoma multiforme(144;0.168)|Epithelial(112;0.244)|OV - Ovarian serous cystadenocarcinoma(117;0.246)	4	629	-		Lung SC(185;0.0161)	125					A8K0X0|Q5VZV3|Q8TC49	Missense_Mutation	SNP	ENST00000282344.6	37	c.373G>A	CCDS31952.1	.	.	.	.	.	.	.	.	.	.	C	33	5.278315	0.95459	.	.	ENSG00000152484	ENST00000282344	T	0.11604	2.76	5.54	5.54	0.83059	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.046603	0.85682	D	0.000000	T	0.44644	0.1303	M	0.92738	3.34	0.80722	D	1	D	0.60575	0.988	D	0.67382	0.951	T	0.55121	-0.8190	10	0.72032	D	0.01	-7.9781	19.8379	0.96666	0.0:1.0:0.0:0.0	.	125	O75317	UBP12_HUMAN	T	125	ENSP00000282344:A125T	ENSP00000282344:A125T	A	-	1	0	USP12	26567938	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.689000	0.84165	2.765000	0.95021	0.655000	0.94253	GCC		0.264	USP12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044264.1	NM_182488		8	25	0	0	0	1	0	8	25					T	27669938	C	T	27669938	3	4	435	1	0	0	0	0	1	0	0	0	17040	710	25	3	763	3	USP12	13	27669938	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	336003	27669938	87499940	6000	26925											
GSX1	219409	broad.mit.edu	37	chr13	28367779	28367779	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acgcagctgctagagctggaGcgcgagttcgcttctaatat	9	10	12	10	4	1	1	0	0	1	1	2	3	1	2	0	1	4	6	0	1	3	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr13:28367779G>A	ENST00000302945.2	+	2	537	c.489G>A	c.(487-489)gaG>gaA	p.E163E		NM_145657.1	NP_663632.1	Q9H4S2	GSX1_HUMAN	GS homeobox 1	163					adenohypophysis development (GO:0021984)|hypothalamus development (GO:0021854)|neuron fate commitment (GO:0048663)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|spinal cord association neuron differentiation (GO:0021527)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)			endometrium(1)|large_intestine(1)|lung(1)|ovary(1)	4		Lung SC(185;0.0161)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	GBM - Glioblastoma multiforme(144;0.0402)|all cancers(112;0.0404)|OV - Ovarian serous cystadenocarcinoma(117;0.197)		TAGAGCTGGAGCGCGAGTTCG	0.572																																						ENST00000302945.2																			0				endometrium(1)|large_intestine(1)|lung(1)|ovary(1)	4						c.(487-489)gaG>gaA		GS homeobox 1							86	80	82					13																	28367779		2203	4300	6503	SO:0001819	synonymous_variant	219409				positive regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr13:28367779G>A	AB044157	CCDS9326.1	13q12.2	2012-03-09		2007-07-26	ENSG00000169840	ENSG00000169840		"Homeoboxes / ANTP class : HOXL subclass"	20374	protein-coding gene	gene with protein product				GSH1			Standard	NM_145657		Approved	Gsh-1	uc001urr.1	Q9H4S2	OTTHUMG00000016637	ENST00000302945.2:c.489G>A	13.37:g.28367779G>A							p.E163E	NM_145657.1	NP_663632.1	Q9H4S2	GSX1_HUMAN	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	GBM - Glioblastoma multiforme(144;0.0402)|all cancers(112;0.0404)|OV - Ovarian serous cystadenocarcinoma(117;0.197)	2	537	+		Lung SC(185;0.0161)	163					Q9UD62	Silent	SNP	ENST00000302945.2	37	c.489G>A	CCDS9326.1																																																																																				0.572	GSX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044309.2	NM_145657		18	34	0	0	0	1	0	18	34					A	28367779	G	A	28367779	2	1	435	1	0	0	0	0	0	0	0	1	6849	962	34	3		3	GSX1	13	28367779	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	697841	28367779	86802099	6001	26926											
FLT3	2322	broad.mit.edu	37	chr13	28601284	28601284	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaattgtgttccttgaaaatCtctgtccaagtcctgtgaaa	12	14	7	8	0	1	2	0	2	1	0	5	2	4	2	3	0	0	1	3	0	5	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr13:28601284C>T	ENST00000241453.7	-	17	2229	c.2148G>A	c.(2146-2148)gaG>gaA	p.E716E	FLT3_ENST00000537084.1_Silent_p.E716E|FLT3_ENST00000380982.4_Silent_p.E716E	NM_004119.2	NP_004110.2	P36888	FLT3_HUMAN	fms-related tyrosine kinase 3	716	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				B cell differentiation (GO:0030183)|cellular response to cytokine stimulus (GO:0071345)|common myeloid progenitor cell proliferation (GO:0035726)|cytokine-mediated signaling pathway (GO:0019221)|dendritic cell differentiation (GO:0097028)|hemopoiesis (GO:0030097)|leukocyte homeostasis (GO:0001776)|lymphocyte proliferation (GO:0046651)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of B cell differentiation (GO:0045578)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of tyrosine phosphorylation of STAT protein (GO:0042531)|pro-B cell differentiation (GO:0002328)|pro-T cell differentiation (GO:0002572)|protein autophosphorylation (GO:0046777)|regulation of apoptotic process (GO:0042981)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor signaling pathway (GO:0038084)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|cytokine receptor activity (GO:0004896)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(12329)|kidney(2)|large_intestine(8)|lung(30)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12390	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	Ponatinib(DB08901)|Sorafenib(DB00398)|Sunitinib(DB01268)	CCTTGAAAATCTCTGTCCAAG	0.363			"Mis, O"		"AML, ALL"																																	ENST00000380982.4				Dom	yes		13	13q12	2322	"Mis, O"	fms-related tyrosine kinase 3			L			"AML, ALL"		0				NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(12329)|kidney(2)|large_intestine(8)|lung(30)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12390						c.(2146-2148)gaG>gaA		fms-related tyrosine kinase 3	Sorafenib(DB00398)|Sunitinib(DB01268)						168	172	170					13																	28601284		2203	4300	6503	SO:0001819	synonymous_variant	2322				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|vascular endothelial growth factor receptor activity	g.chr13:28601284C>T	U02687	CCDS31953.1	13q12	2014-09-17			ENSG00000122025	ENSG00000122025	2.7.10.1	"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	3765	protein-coding gene	gene with protein product		136351				8394751	Standard	NM_004119		Approved	STK1, FLK2, CD135	uc001urw.3	P36888	OTTHUMG00000016646	ENST00000241453.7:c.2148G>A	13.37:g.28601284C>T						FLT3_ENST00000241453.7_Silent_p.E716E|FLT3_ENST00000537084.1_Silent_p.E716E	p.E716E			P36888	FLT3_HUMAN	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	17	2229	-	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	716			Protein kinase.		A0AVG9|B7ZLT7|B7ZLT8|F5H0A0|Q13414	Silent	SNP	ENST00000241453.7	37	c.2148G>A	CCDS31953.1																																																																																				0.363	FLT3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000044319.2			52	57	0	0	0	1	0	52	57					T	28601284	C	T	28601284	2	4	435	1	0	0	0	0	0	0	0	1	5942	912	32	3		3	FLT3	13	28601284	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	233505	28601284	86568594	6002	26927											
FLT1	2321	broad.mit.edu	37	chr13	29001909	29001909	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cattgacaattagagtggcaGtgaggtttttaaacacattt	13	14	9	5	0	0	3	0	2	0	1	0	3	0	3	0	2	1	2	0	2	4	6			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr13:29001909G>T	ENST00000282397.4	-	9	1507	c.1256C>A	c.(1255-1257)aCt>aAt	p.T419N	FLT1_ENST00000539099.1_Missense_Mutation_p.T419N|FLT1_ENST00000541932.1_Missense_Mutation_p.T419N	NM_002019.4	NP_002010.2	P17948	VGFR1_HUMAN	fms-related tyrosine kinase 1	419	Ig-like C2-type 4.				blood vessel morphogenesis (GO:0048514)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|embryonic morphogenesis (GO:0048598)|monocyte chemotaxis (GO:0002548)|patterning of blood vessels (GO:0001569)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein autophosphorylation (GO:0046777)|sprouting angiogenesis (GO:0002040)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor receptor-1 signaling pathway (GO:0036323)|vascular endothelial growth factor signaling pathway (GO:0038084)	endosome (GO:0005768)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|placental growth factor-activated receptor activity (GO:0036332)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)|VEGF-A-activated receptor activity (GO:0036326)|VEGF-B-activated receptor activity (GO:0036327)			NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Axitinib(DB06626)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	TAGAGTGGCAGTGAGGTTTTT	0.368																																						ENST00000282397.4																			0				NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115						c.(1255-1257)aCt>aAt		fms-related tyrosine kinase 1	Sunitinib(DB01268)						148	133	138					13																	29001909		2203	4300	6503	SO:0001583	missense	2321				cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway	extracellular space|Golgi apparatus|integral to plasma membrane|nucleus	ATP binding|growth factor binding|vascular endothelial growth factor receptor activity	g.chr13:29001909G>T	AF063657	CCDS9330.1, CCDS53860.1, CCDS53861.1, CCDS73556.1	13q12	2014-09-17	2012-11-19		ENSG00000102755	ENSG00000102755	2.7.10.1	"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	3763	protein-coding gene	gene with protein product	"vascular endothelial growth factor receptor 1", "vascular permeability factor receptor"	165070	"fms-related tyrosine kinase 1 (vascular endothelial growth factor/vascular permeability factor receptor)"	FLT		2158038	Standard	NM_001159920		Approved	VEGFR1	uc001usb.3	P17948	OTTHUMG00000016648	ENST00000282397.4:c.1256C>A	13.37:g.29001909G>T	ENSP00000282397:p.Thr419Asn					FLT1_ENST00000539099.1_Missense_Mutation_p.T419N|FLT1_ENST00000541932.1_Missense_Mutation_p.T419N	p.T419N	NM_002019.4	NP_002010.2	P17948	VGFR1_HUMAN	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	9	1507	-	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	419			Ig-like C2-type 4.		A3E342|A3E344|A8KA71|B0LPF1|B2BF46|B2BF47|B2BF48|B3FR89|B5A923|F5H5L6|O60722|P16057|Q12954	Missense_Mutation	SNP	ENST00000282397.4	37	c.1256C>A	CCDS9330.1	.	.	.	.	.	.	.	.	.	.	G	25.1	4.604642	0.87157	.	.	ENSG00000102755	ENST00000282397;ENST00000541932;ENST00000539099	T;T;T	0.78481	-1.18;-1.18;-1.18	5.73	5.73	0.89815	Immunoglobulin subtype (1);	0.052727	0.85682	D	0.000000	D	0.86297	0.5899	L	0.60455	1.87	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;0.999;0.999;1.0	T	0.82444	-0.0454	10	0.26408	T	0.33	.	19.9084	0.97016	0.0:0.0:1.0:0.0	.	419;419;419;419	P17948-4;P17948-3;P17948-2;P17948	.;.;.;VGFR1_HUMAN	N	419	ENSP00000282397:T419N;ENSP00000437631:T419N;ENSP00000442630:T419N	ENSP00000282397:T419N	T	-	2	0	FLT1	27899909	1.000000	0.71417	0.984000	0.44739	0.892000	0.51952	8.684000	0.91242	2.711000	0.92665	0.650000	0.86243	ACT		0.368	FLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044322.1			22	31	1	0	1.77063e-15	1	1.9385e-15	22	31					T	29001909	G	T	29001909	3	4	435	1	0	0	0	0	1	0	0	0	5941	1029	36	5	3111	5	FLT1	13	29001909	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	400625	29001909	86167969	6003	26928											
FLT1	2321	broad.mit.edu	37	chr13	29001983	29001983	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgcatcctcttcagttacGtccttgataattaacgagta	10	14	6	11	2	2	1	1	1	1	0	4	2	4	1	3	0	3	3	3	0	4	6			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr13:29001983G>A	ENST00000282397.4	-	9	1433	c.1182C>T	c.(1180-1182)gaC>gaT	p.D394D	FLT1_ENST00000539099.1_Silent_p.D394D|FLT1_ENST00000541932.1_Silent_p.D394D	NM_002019.4	NP_002010.2	P17948	VGFR1_HUMAN	fms-related tyrosine kinase 1	394	Ig-like C2-type 4.				blood vessel morphogenesis (GO:0048514)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|embryonic morphogenesis (GO:0048598)|monocyte chemotaxis (GO:0002548)|patterning of blood vessels (GO:0001569)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein autophosphorylation (GO:0046777)|sprouting angiogenesis (GO:0002040)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor receptor-1 signaling pathway (GO:0036323)|vascular endothelial growth factor signaling pathway (GO:0038084)	endosome (GO:0005768)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|placental growth factor-activated receptor activity (GO:0036332)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)|VEGF-A-activated receptor activity (GO:0036326)|VEGF-B-activated receptor activity (GO:0036327)			NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Axitinib(DB06626)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	CTTCAGTTACGTCCTTGATAA	0.388																																						ENST00000282397.4																			0				NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115						c.(1180-1182)gaC>gaT		fms-related tyrosine kinase 1	Sunitinib(DB01268)						141	126	131					13																	29001983		2203	4300	6503	SO:0001819	synonymous_variant	2321				cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway	extracellular space|Golgi apparatus|integral to plasma membrane|nucleus	ATP binding|growth factor binding|vascular endothelial growth factor receptor activity	g.chr13:29001983G>A	AF063657	CCDS9330.1, CCDS53860.1, CCDS53861.1, CCDS73556.1	13q12	2014-09-17	2012-11-19		ENSG00000102755	ENSG00000102755	2.7.10.1	"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	3763	protein-coding gene	gene with protein product	"vascular endothelial growth factor receptor 1", "vascular permeability factor receptor"	165070	"fms-related tyrosine kinase 1 (vascular endothelial growth factor/vascular permeability factor receptor)"	FLT		2158038	Standard	NM_001159920		Approved	VEGFR1	uc001usb.3	P17948	OTTHUMG00000016648	ENST00000282397.4:c.1182C>T	13.37:g.29001983G>A						FLT1_ENST00000539099.1_Silent_p.D394D|FLT1_ENST00000541932.1_Silent_p.D394D	p.D394D	NM_002019.4	NP_002010.2	P17948	VGFR1_HUMAN	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	9	1433	-	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	394			Ig-like C2-type 4.		A3E342|A3E344|A8KA71|B0LPF1|B2BF46|B2BF47|B2BF48|B3FR89|B5A923|F5H5L6|O60722|P16057|Q12954	Silent	SNP	ENST00000282397.4	37	c.1182C>T	CCDS9330.1																																																																																				0.388	FLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044322.1			29	48	0	0	0	1	0	29	48					A	29001983	G	A	29001983	2	1	435	1	0	0	0	0	0	0	0	1	5941	1136	40	1		1	FLT1	13	29001983	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	74	29001983	86167895	6004	26929											
SLC46A3	283537	broad.mit.edu	37	chr13	29287060	29287061	+	Frame_Shift_Ins	INS	-	-	A																															ggggcaatgccaattaccacINSaaaaaaataagtgattactg																										TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr13:29287060_29287061insA	ENST00000266943.6	-	3	1185_1186	c.816_817insT	c.(814-819)tttgtgfs	p.V273fs	SLC46A3_ENST00000380814.4_Frame_Shift_Ins_p.V273fs	NM_001135919.1|NM_181785.3	NP_001129391.1|NP_861450.1	Q7Z3Q1	S46A3_HUMAN	solute carrier family 46, member 3	273					transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(2)|prostate(1)|skin(1)	15		Lung SC(185;0.0367)		all cancers(112;0.159)		CCAATTACCACAAAAAAATAAG	0.342																																						ENST00000266943.6																			0				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(2)|prostate(1)|skin(1)	15						c.(814-819)tttggtfs		solute carrier family 46, member 3																																				SO:0001589	frameshift_variant	283537				transmembrane transport	integral to membrane		g.chr13:29287060_29287061insA		CCDS9332.1, CCDS45021.1	13q12.3	2013-05-22	2007-03-29		ENSG00000139508	ENSG00000139508		"Solute carriers"	27501	protein-coding gene	gene with protein product							Standard	NM_001135919		Approved	DKFZp686A1775, FLJ42613	uc001usj.3	Q7Z3Q1	OTTHUMG00000016650	ENST00000266943.6:c.817dupT	13.37:g.29287067_29287067dupA	ENSP00000266943:p.Val273fs					SLC46A3_ENST00000380814.4_Frame_Shift_Ins_p.G273fs	p.G273fs	NM_001135919.1|NM_181785.3	NP_001129391.1|NP_861450.1	Q7Z3Q1	S46A3_HUMAN		all cancers(112;0.159)	3	1185_1186	-		Lung SC(185;0.0367)	273					Q3ZCV8|Q6NUK5|Q6P9B3|Q6ZVG5|Q96QA1	Frame_Shift_Ins	INS	ENST00000266943.6	37	c.816_817insT	CCDS9332.1																																																																																				0.342	SLC46A3-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000276111.1	NM_181785		16	23						16	23	---	---	---	---	A	29287061	-	A	29287060	7	5	435	1	0	1	1	0	0	0	0	0	14646	478	17	0	598	0	SLC46A3	13	29287060	Frame_Shift_Ins	INS	-	TCGA-XK-AAIW-01A-11D-A41K-08	285077	29287060	85882818	6005	26930											
SLC46A3	283537	broad.mit.edu	37	chr13	29292061	29292061	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	attctccgataaacatattgCgttgtcagtggaccggtcaa	11	12	9	9	3	3	0	2	0	1	0	4	2	3	1	2	2	2	1	2	2	4	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr13:29292061C>T	ENST00000266943.6	-	2	444	c.75G>A	c.(73-75)acG>acA	p.T25T	SLC46A3_ENST00000380814.4_Silent_p.T25T	NM_001135919.1|NM_181785.3	NP_001129391.1|NP_861450.1	Q7Z3Q1	S46A3_HUMAN	solute carrier family 46, member 3	25					transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(2)|prostate(1)|skin(1)	15		Lung SC(185;0.0367)		all cancers(112;0.159)		AAACATATTGCGTTGTCAGTG	0.378																																						ENST00000266943.6																			0				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(2)|prostate(1)|skin(1)	15						c.(73-75)acG>acA		solute carrier family 46, member 3							131	132	132					13																	29292061		2203	4300	6503	SO:0001819	synonymous_variant	283537				transmembrane transport	integral to membrane		g.chr13:29292061C>T		CCDS9332.1, CCDS45021.1	13q12.3	2013-05-22	2007-03-29		ENSG00000139508	ENSG00000139508		"Solute carriers"	27501	protein-coding gene	gene with protein product							Standard	NM_001135919		Approved	DKFZp686A1775, FLJ42613	uc001usj.3	Q7Z3Q1	OTTHUMG00000016650	ENST00000266943.6:c.75G>A	13.37:g.29292061C>T						SLC46A3_ENST00000380814.4_Silent_p.T25T	p.T25T	NM_001135919.1|NM_181785.3	NP_001129391.1|NP_861450.1	Q7Z3Q1	S46A3_HUMAN		all cancers(112;0.159)	2	444	-		Lung SC(185;0.0367)	25					Q3ZCV8|Q6NUK5|Q6P9B3|Q6ZVG5|Q96QA1	Silent	SNP	ENST00000266943.6	37	c.75G>A	CCDS9332.1																																																																																				0.378	SLC46A3-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000276111.1	NM_181785		31	52	0	0	0	1	0	31	52					T	29292061	C	T	29292061	2	4	435	1	0	0	0	0	0	0	0	1	14646	755	27	1		1	SLC46A3	13	29292061	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	5001	29292061	85877817	6006	26931											
MTUS2	23281	broad.mit.edu	37	chr13	29598970	29598970	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caaatcatgttggaggtcagCtcctctcatgacgagtccaa	11	10	9	11	1	3	1	3	1	1	0	6	3	5	2	2	2	1	2	2	2	2	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr13:29598970C>T	ENST00000431530.3	+	1	223	c.165C>T	c.(163-165)agC>agT	p.S55S		NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN	microtubule associated tumor suppressor candidate 2	45						cytoplasm (GO:0005737)|microtubule (GO:0005874)	microtubule binding (GO:0008017)|protein homodimerization activity (GO:0042803)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						TGGAGGTCAGCTCCTCTCATG	0.418																																						ENST00000431530.3																			0				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						c.(163-165)agC>agT		microtubule associated tumor suppressor candidate 2							58	55	56					13																	29598970		1931	4131	6062	SO:0001819	synonymous_variant	23281					cytoplasm|microtubule	microtubule binding|protein homodimerization activity	g.chr13:29598970C>T	AB018317	CCDS41874.1, CCDS45022.1	13q12.3	2013-01-17	2009-10-20	2009-10-20	ENSG00000132938	ENSG00000132938			20595	protein-coding gene	gene with protein product	"+TIP of 150 kDa", "cardiac zipper protein"		"KIAA0774"	KIAA0774		19543227	Standard	NM_001033602		Approved	TIP150, CAZIP, ICIS	uc001usl.4	Q5JR59	OTTHUMG00000016657	ENST00000431530.3:c.165C>T	13.37:g.29598970C>T							p.S55S	NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN			1	223	+			45					A7E292|B4DF81|O94872|Q08E97|Q5JQR3|Q8N5E2	Silent	SNP	ENST00000431530.3	37	c.165C>T	CCDS45022.1																																																																																				0.418	MTUS2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000044336.3	XM_166270		8	21	0	0	0	1	0	8	21					T	29598970	C	T	29598970	2	4	435	1	0	0	0	0	0	0	0	1	9966	796	28	3		3	MTUS2	13	29598970	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	306909	29598970	85570908	6007	26932											
MTUS2	23281	broad.mit.edu	37	chr13	29599505	29599505	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agaagacattgccagaccacGctgtcccggcagctttccct	9	8	9	15	2	0	3	0	0	0	3	2	3	2	3	4	1	2	3	4	1	1	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr13:29599505G>A	ENST00000431530.3	+	1	758	c.700G>A	c.(700-702)Gct>Act	p.A234T		NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN	microtubule associated tumor suppressor candidate 2	224						cytoplasm (GO:0005737)|microtubule (GO:0005874)	microtubule binding (GO:0008017)|protein homodimerization activity (GO:0042803)	p.A234S(1)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						GCCAGACCACGCTGTCCCGGC	0.592																																						ENST00000431530.3																			1	Substitution - Missense(1)	p.A234S(1)	lung(1)	NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						c.(700-702)Gct>Act		microtubule associated tumor suppressor candidate 2							40	42	41					13																	29599505		2200	4300	6500	SO:0001583	missense	23281					cytoplasm|microtubule	microtubule binding|protein homodimerization activity	g.chr13:29599505G>A	AB018317	CCDS41874.1, CCDS45022.1	13q12.3	2013-01-17	2009-10-20	2009-10-20	ENSG00000132938	ENSG00000132938			20595	protein-coding gene	gene with protein product	"+TIP of 150 kDa", "cardiac zipper protein"		"KIAA0774"	KIAA0774		19543227	Standard	NM_001033602		Approved	TIP150, CAZIP, ICIS	uc001usl.4	Q5JR59	OTTHUMG00000016657	ENST00000431530.3:c.700G>A	13.37:g.29599505G>A	ENSP00000392057:p.Ala234Thr						p.A234T	NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN			1	758	+			224					A7E292|B4DF81|O94872|Q08E97|Q5JQR3|Q8N5E2	Missense_Mutation	SNP	ENST00000431530.3	37	c.700G>A	CCDS45022.1	.	.	.	.	.	.	.	.	.	.	g	9.010	0.982288	0.18889	.	.	ENSG00000132938	ENST00000431530	T	0.11604	2.76	5.48	1.7	0.24286	.	1.488280	0.04074	N	0.308505	T	0.08223	0.0205	L	0.29908	0.895	0.09310	N	1	B	0.12630	0.006	B	0.06405	0.002	T	0.36311	-0.9753	9	.	.	.	.	2.8439	0.05537	0.1366:0.1034:0.1515:0.6085	.	224	Q5JR59	MTUS2_HUMAN	T	234	ENSP00000392057:A234T	.	A	+	1	0	MTUS2	28497505	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.278000	0.18753	0.347000	0.23924	-0.410000	0.06199	GCT		0.592	MTUS2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000044336.3	XM_166270		16	11	0	0	0	1	0	16	11					A	29599505	G	A	29599505	3	1	435	1	0	0	0	0	1	0	0	0	9966	1087	38	1	702	1	MTUS2	13	29599505	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	535	29599505	85570373	6008	26933											
MTUS2	23281	broad.mit.edu	37	chr13	29600325	29600325	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aagtggccgctcagaagcacGggaaagcaaagaggtcacca	15	3	13	10	2	2	2	2	0	0	2	2	3	2	3	2	3	2	3	2	3	4	0	rs375213030		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr13:29600325G>A	ENST00000431530.3	+	1	1578	c.1520G>A	c.(1519-1521)cGg>cAg	p.R507Q		NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN	microtubule associated tumor suppressor candidate 2	497						cytoplasm (GO:0005737)|microtubule (GO:0005874)	microtubule binding (GO:0008017)|protein homodimerization activity (GO:0042803)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						TCAGAAGCACGGGAAAGCAAA	0.488																																						ENST00000431530.3																			0				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						c.(1519-1521)cGg>cAg		microtubule associated tumor suppressor candidate 2		G	GLN/ARG	0,3952		0,0,1976	85	89	88		1520	-3	0	13		88	2,8302		0,2,4150	no	missense	MTUS2	NM_001033602.2	43	0,2,6126	AA,AG,GG		0.0241,0.0,0.0163	benign	507/1380	29600325	2,12254	1976	4152	6128	SO:0001583	missense	23281					cytoplasm|microtubule	microtubule binding|protein homodimerization activity	g.chr13:29600325G>A	AB018317	CCDS41874.1, CCDS45022.1	13q12.3	2013-01-17	2009-10-20	2009-10-20	ENSG00000132938	ENSG00000132938			20595	protein-coding gene	gene with protein product	"+TIP of 150 kDa", "cardiac zipper protein"		"KIAA0774"	KIAA0774		19543227	Standard	NM_001033602		Approved	TIP150, CAZIP, ICIS	uc001usl.4	Q5JR59	OTTHUMG00000016657	ENST00000431530.3:c.1520G>A	13.37:g.29600325G>A	ENSP00000392057:p.Arg507Gln						p.R507Q	NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN			1	1578	+			497					A7E292|B4DF81|O94872|Q08E97|Q5JQR3|Q8N5E2	Missense_Mutation	SNP	ENST00000431530.3	37	c.1520G>A	CCDS45022.1	.	.	.	.	.	.	.	.	.	.	g	12.13	1.844707	0.32606	0.0	2.41E-4	ENSG00000132938	ENST00000431530	T	0.11604	2.76	5.92	-2.98	0.05513	.	1.146510	0.06458	N	0.728955	T	0.07052	0.0179	L	0.44542	1.39	0.09310	N	1	B	0.31879	0.344	B	0.22386	0.039	T	0.35699	-0.9778	9	.	.	.	.	2.5063	0.04645	0.422:0.0958:0.3442:0.138	.	497	Q5JR59	MTUS2_HUMAN	Q	507	ENSP00000392057:R507Q	.	R	+	2	0	MTUS2	28498325	0.000000	0.05858	0.000000	0.03702	0.027000	0.11550	-0.221000	0.09202	-0.449000	0.07117	0.655000	0.94253	CGG		0.488	MTUS2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000044336.3	XM_166270		8	17	0	0	0	1	0	8	17					A	29600325	G	A	29600325	3	1	435	1	0	0	0	0	1	0	0	0	9966	1116	39	2	1522	2	MTUS2	13	29600325	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	820	29600325	85569553	6009	26934											
SLC7A1	6541	broad.mit.edu	37	chr13	30091325	30091325	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcgggctgcctccagatgaCgcccgtgaccacggcacaga	8	5	12	16	4	0	4	0	2	0	2	2	4	1	4	4	2	1	2	4	2	0	0	rs548607156		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr13:30091325C>T	ENST00000380752.5	-	11	2019	c.1633G>A	c.(1633-1635)Gtc>Atc	p.V545I	SLC7A1_ENST00000473577.1_5'UTR	NM_003045.4	NP_003036.1	P30825	CTR1_HUMAN	solute carrier family 7 (cationic amino acid transporter, y+ system), member 1	545					amino acid transport (GO:0006865)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	arginine transmembrane transporter activity (GO:0015181)			endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)|stomach(1)|urinary_tract(2)	24		Lung SC(185;0.0257)|Breast(139;0.238)		all cancers(112;0.0148)|OV - Ovarian serous cystadenocarcinoma(117;0.0554)|Epithelial(112;0.0875)|GBM - Glioblastoma multiforme(144;0.179)	L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)	CTCCAGATGACGCCCGTGACC	0.612																																						ENST00000380752.5																			0				endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)|stomach(1)|urinary_tract(2)	24						c.(1633-1635)Gtc>Atc		solute carrier family 7 (cationic amino acid transporter, y+ system), member 1	L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)						37	36	36					13																	30091325		2203	4300	6503	SO:0001583	missense	6541				cellular nitrogen compound metabolic process|ion transport	integral to plasma membrane	receptor activity	g.chr13:30091325C>T	AF078107	CCDS9333.1	13q12.3	2013-05-22			ENSG00000139514	ENSG00000139514		"Solute carriers"	11057	protein-coding gene	gene with protein product	"ecotropic retroviral receptor", "amino acid transporter, cationic 1"	104615		ERR, ATRC1		1348489	Standard	NM_003045		Approved	CAT-1, HCAT1, REC1L	uc001uso.3	P30825	OTTHUMG00000016658	ENST00000380752.5:c.1633G>A	13.37:g.30091325C>T	ENSP00000370128:p.Val545Ile					SLC7A1_ENST00000473577.1_5'UTR	p.V545I	NM_003045.4	NP_003036.1	P30825	CTR1_HUMAN		all cancers(112;0.0148)|OV - Ovarian serous cystadenocarcinoma(117;0.0554)|Epithelial(112;0.0875)|GBM - Glioblastoma multiforme(144;0.179)	11	2019	-		Lung SC(185;0.0257)|Breast(139;0.238)	545					Q5JR50	Missense_Mutation	SNP	ENST00000380752.5	37	c.1633G>A	CCDS9333.1	.	.	.	.	.	.	.	.	.	.	C	2.559	-0.302199	0.05495	.	.	ENSG00000139514	ENST00000380752	D	0.85556	-2.0	4.6	-2.28	0.06826	.	0.382176	0.28996	N	0.013469	T	0.59293	0.2183	N	0.10733	0.035	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.53982	-0.8361	10	0.02654	T	1	.	6.5612	0.22487	0.0:0.4038:0.1361:0.4601	.	545	P30825	CTR1_HUMAN	I	545	ENSP00000370128:V545I	ENSP00000370128:V545I	V	-	1	0	SLC7A1	28989325	0.000000	0.05858	0.090000	0.20809	0.189000	0.23516	-0.741000	0.04855	-0.130000	0.11599	-0.291000	0.09656	GTC		0.612	SLC7A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044337.2	NM_003045		16	17	0	0	0	1	0	16	17					T	30091325	C	T	30091325	3	4	435	1	0	0	0	0	1	0	0	0	14692	536	19	1	268	1	SLC7A1	13	30091325	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	491000	30091325	85078553	6010	26935											
USPL1	10208	broad.mit.edu	37	chr13	31205109	31205110	+	Frame_Shift_Ins	INS	-	-	A																															cacttcttttagcaaattccINSaaaaagactagaaattatat																										TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr13:31205109_31205110insA	ENST00000255304.4	+	4	708_709	c.366_367insA	c.(367-369)aaafs	p.K123fs	USPL1_ENST00000465952.1_3'UTR	NM_005800.4	NP_005791.3	Q5W0Q7	USPL1_HUMAN	ubiquitin specific peptidase like 1	123					Cajal body organization (GO:0030576)|cell proliferation (GO:0008283)|protein desumoylation (GO:0016926)	Cajal body (GO:0015030)|extracellular space (GO:0005615)	SUMO binding (GO:0032183)|SUMO-specific isopeptidase activity (GO:0070140)			breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(15)|pancreas(3)|skin(3)	34		Lung SC(185;0.0257)|Breast(139;0.203)		all cancers(112;0.0306)|Epithelial(112;0.131)|OV - Ovarian serous cystadenocarcinoma(117;0.134)		TAGCAAATTCCAAAAAGACTAG	0.356																																					Ovarian(60;318 1180 1554 28110 31601)	ENST00000255304.4																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(15)|pancreas(3)|skin(3)	34						c.(364-369)tcaaaafs		ubiquitin specific peptidase like 1																																				SO:0001589	frameshift_variant	10208				ubiquitin-dependent protein catabolic process		ubiquitin thiolesterase activity	g.chr13:31205109_31205110insA	X59131	CCDS9336.1	13q12-q14	2012-11-14	2005-11-24	2005-11-24	ENSG00000132952	ENSG00000132952			20294	protein-coding gene	gene with protein product			"chromosome 13 open reading frame 22"	C13orf22		22878415	Standard	NM_005800		Approved	bA121O19.1, D13S106E	uc001utc.2	Q5W0Q7	OTTHUMG00000016675	ENST00000255304.4:c.371dupA	13.37:g.31205114_31205114dupA	ENSP00000255304:p.Lys123fs					USPL1_ENST00000465952.1_3'UTR	p.SK122fs	NM_005800.4	NP_005791.3	Q5W0Q7	USPL1_HUMAN		all cancers(112;0.0306)|Epithelial(112;0.131)|OV - Ovarian serous cystadenocarcinoma(117;0.134)	4	708_709	+		Lung SC(185;0.0257)|Breast(139;0.203)	122					Q14109|Q6AI45|Q8IY30|Q8IYE8	Frame_Shift_Ins	INS	ENST00000255304.4	37	c.366_367insA	CCDS9336.1																																																																																				0.356	USPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044369.1	NM_005800		18	36						18	36	---	---	---	---	A	31205110	-	A	31205109	7	5	435	1	0	1	1	0	0	0	0	0	17089	581	21	0	376	0	USPL1	13	31205109	Frame_Shift_Ins	INS	-	TCGA-XK-AAIW-01A-11D-A41K-08	1113784	31205109	83964769	6011	26936											
HSPH1	10808	broad.mit.edu	37	chr13	31724105	31724105	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aagtacctgtaatgcacatcCtctggctactgcttcatctg	9	13	7	12	0	3	0	1	0	2	0	4	0	4	0	2	1	4	5	2	1	4	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr13:31724105C>A	ENST00000320027.5	-	8	1467	c.1123G>T	c.(1123-1125)Gga>Tga	p.G375*	HSPH1_ENST00000380405.4_Nonsense_Mutation_p.G375*|HSPH1_ENST00000429785.2_Nonsense_Mutation_p.G194*|HSPH1_ENST00000380406.5_Nonsense_Mutation_p.G334*|HSPH1_ENST00000445273.2_Nonsense_Mutation_p.G377*	NM_006644.2	NP_006635.2	Q92598	HS105_HUMAN	heat shock 105kDa/110kDa protein 1	375					chaperone mediated protein folding requiring cofactor (GO:0051085)|positive regulation of MHC class I biosynthetic process (GO:0045345)|positive regulation of NK T cell activation (GO:0051135)|response to unfolded protein (GO:0006986)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle lumen (GO:0071682)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|nucleus (GO:0005634)	ATP binding (GO:0005524)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	27		Lung SC(185;0.0257)		all cancers(112;0.00385)|Epithelial(112;0.0328)|OV - Ovarian serous cystadenocarcinoma(117;0.0375)|GBM - Glioblastoma multiforme(144;0.125)		AATGCACATCCTCTGGCTACT	0.423																																						ENST00000320027.5																			0				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	27						c.(1123-1125)Gga>Tga		heat shock 105kDa/110kDa protein 1							109	104	106					13																	31724105		2203	4300	6503	SO:0001587	stop_gained	10808				positive regulation of MHC class I biosynthetic process|positive regulation of NK T cell activation|response to unfolded protein	cytoplasm|extracellular region	ATP binding	g.chr13:31724105C>A	AB003333	CCDS9340.1, CCDS66525.1, CCDS73559.1	13q12.2-q13.3	2011-09-02			ENSG00000120694	ENSG00000120694		"Heat shock proteins / HSP70"	16969	protein-coding gene	gene with protein product		610703				9610721, 9931472	Standard	XM_005266236		Approved	HSP105B, KIAA0201, HSP105A, NY-CO-25	uc001utj.3	Q92598	OTTHUMG00000016685	ENST00000320027.5:c.1123G>T	13.37:g.31724105C>A	ENSP00000318687:p.Gly375*					HSPH1_ENST00000380406.5_Nonsense_Mutation_p.G334*|HSPH1_ENST00000429785.2_Nonsense_Mutation_p.G194*|HSPH1_ENST00000380405.4_Nonsense_Mutation_p.G375*|HSPH1_ENST00000445273.2_Nonsense_Mutation_p.G377*	p.G375*	NM_006644.2	NP_006635.2	Q92598	HS105_HUMAN		all cancers(112;0.00385)|Epithelial(112;0.0328)|OV - Ovarian serous cystadenocarcinoma(117;0.0375)|GBM - Glioblastoma multiforme(144;0.125)	8	1467	-		Lung SC(185;0.0257)	375					B4DYH1|O95739|Q5TBM6|Q5TBM7|Q5TBM8|Q9UPC4	Nonsense_Mutation	SNP	ENST00000320027.5	37	c.1123G>T	CCDS9340.1	.	.	.	.	.	.	.	.	.	.	C	38	6.991064	0.97987	.	.	ENSG00000120694	ENST00000320027;ENST00000380405;ENST00000380406;ENST00000445273;ENST00000429785;ENST00000438061	.	.	.	5.68	5.68	0.88126	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-26.0178	19.7842	0.96430	0.0:1.0:0.0:0.0	.	.	.	.	X	375;375;334;377;194;426	.	ENSP00000318687:G375X	G	-	1	0	HSPH1	30622105	1.000000	0.71417	0.954000	0.39281	0.534000	0.34807	7.487000	0.81328	2.676000	0.91093	0.591000	0.81541	GGA		0.423	HSPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044384.1			27	47	1	0	8.24728e-16	1	9.04077e-16	27	47					A	31724105	C	A	31724105	4	1	435	1	0	0	0	0	0	1	0	0	7431	690	24	5	1497	5	HSPH1	13	31724105	Nonsense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	518996	31724105	83445773	6012	26937											
HSPH1	10808	broad.mit.edu	37	chr13	31724164	31724164	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tatcttttccaaagaatttgGcaattctttccttcacagct	10	17	4	10	0	3	1	1	0	2	1	5	1	5	1	2	1	1	2	2	1	4	7			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr13:31724164G>A	ENST00000320027.5	-	8	1408	c.1064C>T	c.(1063-1065)gCc>gTc	p.A355V	HSPH1_ENST00000380405.4_Missense_Mutation_p.A355V|HSPH1_ENST00000429785.2_Missense_Mutation_p.A174V|HSPH1_ENST00000380406.5_Missense_Mutation_p.A314V|HSPH1_ENST00000445273.2_Missense_Mutation_p.A357V	NM_006644.2	NP_006635.2	Q92598	HS105_HUMAN	heat shock 105kDa/110kDa protein 1	355					chaperone mediated protein folding requiring cofactor (GO:0051085)|positive regulation of MHC class I biosynthetic process (GO:0045345)|positive regulation of NK T cell activation (GO:0051135)|response to unfolded protein (GO:0006986)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle lumen (GO:0071682)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|nucleus (GO:0005634)	ATP binding (GO:0005524)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	27		Lung SC(185;0.0257)		all cancers(112;0.00385)|Epithelial(112;0.0328)|OV - Ovarian serous cystadenocarcinoma(117;0.0375)|GBM - Glioblastoma multiforme(144;0.125)		AAAGAATTTGGCAATTCTTTC	0.413																																						ENST00000320027.5																			0				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	27						c.(1063-1065)gCc>gTc		heat shock 105kDa/110kDa protein 1							129	127	128					13																	31724164		2203	4300	6503	SO:0001583	missense	10808				positive regulation of MHC class I biosynthetic process|positive regulation of NK T cell activation|response to unfolded protein	cytoplasm|extracellular region	ATP binding	g.chr13:31724164G>A	AB003333	CCDS9340.1, CCDS66525.1, CCDS73559.1	13q12.2-q13.3	2011-09-02			ENSG00000120694	ENSG00000120694		"Heat shock proteins / HSP70"	16969	protein-coding gene	gene with protein product		610703				9610721, 9931472	Standard	XM_005266236		Approved	HSP105B, KIAA0201, HSP105A, NY-CO-25	uc001utj.3	Q92598	OTTHUMG00000016685	ENST00000320027.5:c.1064C>T	13.37:g.31724164G>A	ENSP00000318687:p.Ala355Val					HSPH1_ENST00000380406.5_Missense_Mutation_p.A314V|HSPH1_ENST00000429785.2_Missense_Mutation_p.A174V|HSPH1_ENST00000380405.4_Missense_Mutation_p.A355V|HSPH1_ENST00000445273.2_Missense_Mutation_p.A357V	p.A355V	NM_006644.2	NP_006635.2	Q92598	HS105_HUMAN		all cancers(112;0.00385)|Epithelial(112;0.0328)|OV - Ovarian serous cystadenocarcinoma(117;0.0375)|GBM - Glioblastoma multiforme(144;0.125)	8	1408	-		Lung SC(185;0.0257)	355					B4DYH1|O95739|Q5TBM6|Q5TBM7|Q5TBM8|Q9UPC4	Missense_Mutation	SNP	ENST00000320027.5	37	c.1064C>T	CCDS9340.1	.	.	.	.	.	.	.	.	.	.	G	13.97	2.395060	0.42512	.	.	ENSG00000120694	ENST00000320027;ENST00000380405;ENST00000380406;ENST00000445273;ENST00000429785;ENST00000438061	T;T;T;T;T	0.01025	5.43;5.43;5.43;5.43;5.43	5.68	4.82	0.62117	.	0.130558	0.52532	D	0.000067	T	0.01730	0.0055	L	0.37750	1.13	0.41156	D	0.986064	B;B;P;B;P	0.37276	0.407;0.055;0.589;0.354;0.589	B;B;B;B;B	0.43018	0.405;0.061;0.405;0.205;0.405	T	0.68735	-0.5330	10	0.51188	T	0.08	-18.0246	15.6725	0.77289	0.0:0.2593:0.7407:0.0	.	174;314;357;355;355	B4DY72;Q92598-3;B4DYH1;Q92598-2;Q92598	.;.;.;.;HS105_HUMAN	V	355;355;314;357;174;406	ENSP00000318687:A355V;ENSP00000369768:A355V;ENSP00000369769:A314V;ENSP00000396090:A357V;ENSP00000388778:A174V	ENSP00000318687:A355V	A	-	2	0	HSPH1	30622164	1.000000	0.71417	0.991000	0.47740	0.045000	0.14185	2.201000	0.42734	1.374000	0.46228	-0.282000	0.10007	GCC		0.413	HSPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044384.1			41	47	0	0	0	1	0	41	47					A	31724164	G	A	31724164	3	1	435	1	0	0	0	0	1	0	0	0	7431	1203	42	3	1556	3	HSPH1	13	31724164	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	59	31724164	83445714	6013	26938											
FRY	10129	broad.mit.edu	37	chr13	32836467	32836467	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	acagatcatgactctctcccCctctgaagagacgaatccca	12	8	6	15	1	3	4	1	2	2	2	6	6	5	4	3	0	0	0	3	0	2	0	rs200222242		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr13:32836467C>T	ENST00000380250.3	+	53	8130	c.7634C>T	c.(7633-7635)cCc>cTc	p.P2545L	FRY_ENST00000542859.1_5'Flank	NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	2545						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		ACTCTCTCCCCCTCTGAAGAG	0.423																																						ENST00000380250.3																			0				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132						c.(7633-7635)cCc>cTc		furry homolog (Drosophila)							70	69	69					13																	32836467		1913	4151	6064	SO:0001583	missense	10129				regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane		g.chr13:32836467C>T	AL049784	CCDS41875.1	13q13.1	2008-02-05	2005-11-24	2005-11-24	ENSG00000073910	ENSG00000073910			20367	protein-coding gene	gene with protein product		614818	"chromosome 13 open reading frame 14"	C13orf14		14702039, 8812419	Standard	NM_023037		Approved	bA37E23.1, 13CDNA73, CG003	uc001utx.3	Q5TBA9	OTTHUMG00000016696	ENST00000380250.3:c.7634C>T	13.37:g.32836467C>T	ENSP00000369600:p.Pro2545Leu						p.P2545L	NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)	53	8130	+		Lung SC(185;0.0271)	2545					Q9Y3N6	Missense_Mutation	SNP	ENST00000380250.3	37	c.7634C>T	CCDS41875.1	.	.	.	.	.	.	.	.	.	.	C	17.57	3.421537	0.62622	.	.	ENSG00000073910	ENST00000380250;ENST00000380235	T	0.23147	1.92	6.03	6.03	0.97812	.	0.046990	0.85682	N	0.000000	T	0.52645	0.1747	M	0.65975	2.015	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.91635	0.999;0.986	T	0.34800	-0.9814	10	0.41790	T	0.15	.	20.5568	0.99304	0.0:1.0:0.0:0.0	.	326;2545	Q8NB82;Q5TBA9	.;FRY_HUMAN	L	2545;189	ENSP00000369600:P2545L	ENSP00000369567:P189L	P	+	2	0	FRY	31734467	1.000000	0.71417	1.000000	0.80357	0.652000	0.38707	5.376000	0.66178	2.861000	0.98227	0.655000	0.94253	CCC		0.423	FRY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044405.1	NM_023037		18	22	0	0	0	1	0	18	22					T	32836467	C	T	32836467	3	4	435	1	0	0	0	0	1	0	0	0	6063	623	22	3	7844	3	FRY	13	32836467	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	1112303	32836467	82333411	6014	26939											
BRCA2	675	broad.mit.edu	37	chr13	32915317	32915317	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attggaaaaagaagaggagaGccccttatcttagtgggtaa	15	9	12	5	0	1	3	0	0	1	3	1	5	1	4	2	3	1	1	2	3	6	4	rs276174880		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr13:32915317G>T	ENST00000380152.3	+	11	7058	c.6825G>T	c.(6823-6825)gaG>gaT	p.E2275D	BRCA2_ENST00000544455.1_Missense_Mutation_p.E2275D			P51587	BRCA2_HUMAN	breast cancer 2, early onset	2275			E -> G (in BC; unknown pathological significance). {ECO:0000269|PubMed:15026808}.		brain development (GO:0007420)|cell aging (GO:0007569)|centrosome duplication (GO:0051298)|cytokinesis (GO:0000910)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|female gonad development (GO:0008585)|hemopoiesis (GO:0030097)|histone H3 acetylation (GO:0043966)|histone H4 acetylation (GO:0043967)|inner cell mass cell proliferation (GO:0001833)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|male meiosis I (GO:0007141)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|nucleotide-excision repair (GO:0006289)|oocyte maturation (GO:0001556)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cytokinesis (GO:0032465)|replication fork protection (GO:0048478)|response to gamma radiation (GO:0010332)|response to UV-C (GO:0010225)|response to X-ray (GO:0010165)|spermatogenesis (GO:0007283)	BRCA2-MAGE-D1 complex (GO:0033593)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)|secretory granule (GO:0030141)	gamma-tubulin binding (GO:0043015)|H3 histone acetyltransferase activity (GO:0010484)|H4 histone acetyltransferase activity (GO:0010485)|protease binding (GO:0002020)|single-stranded DNA binding (GO:0003697)			NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		GAAGAGGAGAGCCCCTTATCT	0.353			"D, Mis, N, F, S"		"breast, ovarian, pancreatic"	"breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)																											Esophageal Squamous(138;838 1285 7957 30353 30468 36915 49332)	ENST00000544455.1			yes	Rec	yes	Hereditary breast/ovarian cancer	13	13q12	675	"D, Mis, N, F, S"	familial breast/ovarian cancer gene 2			"L, E"		"breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"	"breast, ovarian, pancreatic"		0				NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183						c.(6823-6825)gaG>gaT	Homologous recombination	breast cancer 2, early onset							101	108	106					13																	32915317		2201	4300	6501	SO:0001583	missense	675	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	Familial Cancer Database	incl.: Hereditary Pancreatic Adenocarcinoma, Insulin-Dependent Diabetes Mellitus - Exocrine Insufficiency - Familial Pancreatic Cancer, PNCA1;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;HPC; ;FANCD1;Pancytopenia Dysmelia, FA (several complementation groups)	cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding	g.chr13:32915317G>T	U43746	CCDS9344.1	13q12-q13	2014-09-17	2003-10-14		ENSG00000139618	ENSG00000139618		"Fanconi anemia, complementation groups"	1101	protein-coding gene	gene with protein product	"BRCA1/BRCA2-containing complex, subunit 2"	600185	"Fanconi anemia, complementation group D1"	FANCD1, FACD, FANCD		8091231, 7581463, 15057823	Standard	NM_000059		Approved	FAD, FAD1, BRCC2	uc001uub.1	P51587	OTTHUMG00000017411	ENST00000380152.3:c.6825G>T	13.37:g.32915317G>T	ENSP00000369497:p.Glu2275Asp	TCGA Ovarian(8;0.087)				BRCA2_ENST00000380152.3_Missense_Mutation_p.E2275D	p.E2275D	NM_000059.3	NP_000050.2	P51587	BRCA2_HUMAN		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)	11	7052	+		Lung SC(185;0.0262)	2275		E -> G (in BC; unknown pathological significance).			O00183|O15008|Q13879|Q5TBJ7	Missense_Mutation	SNP	ENST00000380152.3	37	c.6825G>T	CCDS9344.1	.	.	.	.	.	.	.	.	.	.	G	0.009	-1.815019	0.00600	.	.	ENSG00000139618	ENST00000380152;ENST00000544455	T;T	0.76968	-1.06;-1.06	5.71	-3.22	0.05125	.	0.926111	0.09226	N	0.831201	T	0.43344	0.1243	N	0.01705	-0.755	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.33828	-0.9853	10	0.15952	T	0.53	.	3.463	0.07540	0.186:0.0861:0.4644:0.2634	.	2275	P51587	BRCA2_HUMAN	D	2275	ENSP00000369497:E2275D;ENSP00000439902:E2275D	ENSP00000369497:E2275D	E	+	3	2	BRCA2	31813317	0.000000	0.05858	0.008000	0.14137	0.148000	0.21650	-0.342000	0.07801	-0.138000	0.11434	-0.262000	0.10625	GAG		0.353	BRCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046000.2	NM_000059		36	51	1	0	6.97489e-18	1	7.68957e-18	36	51					T	32915317	G	T	32915317	3	4	435	1	0	0	0	0	1	0	0	0	1499	962	34	5	6863	5	BRCA2	13	32915317	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	78850	32915317	82254561	6015	26940											
PDS5B	23047	broad.mit.edu	37	chr13	33261280	33261280	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttgtttttaagtggagagtaCgcaaagaagccatgatggga	13	11	13	4	1	0	3	0	1	0	2	0	5	0	4	1	2	2	3	1	2	4	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr13:33261280C>T	ENST00000315596.10	+	12	1399	c.1213C>T	c.(1213-1215)Cgc>Tgc	p.R405C		NM_015032.3	NP_055847.1	Q9NTI5	PDS5B_HUMAN	PDS5, regulator of cohesion maintenance, homolog B (S. cerevisiae)	405					cell proliferation (GO:0008283)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid cohesion (GO:0007064)|negative regulation of cell proliferation (GO:0008285)|regulation of cell proliferation (GO:0042127)	chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)	p.R405C(1)		NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|lung(14)|ovary(5)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	62		Lung SC(185;0.0367)		all cancers(112;5.55e-06)|Epithelial(112;2.7e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00303)|BRCA - Breast invasive adenocarcinoma(63;0.0204)		GTGGAGAGTACGCAAAGAAGC	0.333																																						ENST00000315596.10																			1	Substitution - Missense(1)	p.R405C(1)	prostate(1)	NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|lung(14)|ovary(5)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	62						c.(1213-1215)Cgc>Tgc		PDS5, regulator of cohesion maintenance, homolog B (S. cerevisiae)							118	121	120					13																	33261280		1811	4075	5886	SO:0001583	missense	23047				cell division|cell proliferation|mitotic sister chromatid cohesion|negative regulation of cell proliferation	chromatin|nucleus	ATP binding|DNA binding|identical protein binding	g.chr13:33261280C>T	AB023196	CCDS41878.1	13q12.3	2008-02-05	2007-07-18	2007-07-18	ENSG00000083642	ENSG00000083642			20418	protein-coding gene	gene with protein product		605333	"androgen-induced proliferation inhibitor"	APRIN		8812419, 10215036	Standard	NM_015032		Approved	AS3, KIAA0979, FLJ23236, CG008	uc010abf.3	Q9NTI5	OTTHUMG00000016704	ENST00000315596.10:c.1213C>T	13.37:g.33261280C>T	ENSP00000313851:p.Arg405Cys						p.R405C	NM_015032.3	NP_055847.1	Q9NTI5	PDS5B_HUMAN		all cancers(112;5.55e-06)|Epithelial(112;2.7e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00303)|BRCA - Breast invasive adenocarcinoma(63;0.0204)	12	1399	+		Lung SC(185;0.0367)	405					Q5R3S3|Q5W0K8|Q6NSC3|Q8IXT6|Q9H5N8|Q9Y2I5|Q9Y451	Missense_Mutation	SNP	ENST00000315596.10	37	c.1213C>T	CCDS41878.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.942189	0.73672	.	.	ENSG00000083642	ENST00000315596;ENST00000421084	T	0.80033	-1.33	5.55	3.56	0.40772	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.87180	0.6113	M	0.78456	2.415	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.86963	0.2093	10	0.87932	D	0	-6.186	6.8698	0.24115	0.3597:0.5504:0.0:0.0899	.	405;405	Q9NTI5;Q9NTI5-3	PDS5B_HUMAN;.	C	405	ENSP00000313851:R405C	ENSP00000313851:R405C	R	+	1	0	PDS5B	32159280	1.000000	0.71417	0.938000	0.37757	0.997000	0.91878	4.786000	0.62425	1.486000	0.48398	0.655000	0.94253	CGC		0.333	PDS5B-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044428.3	NM_015032		32	122	0	0	0	1	0	32	122					T	33261280	C	T	33261280	3	4	435	1	0	0	0	0	1	0	0	0	11692	536	19	1	1255	1	PDS5B	13	33261280	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	345963	33261280	81908598	6016	26941											
PDS5B	23047	broad.mit.edu	37	chr13	33344887	33344888	+	Frame_Shift_Ins	INS	-	-	A																															acgccatcaccatcacaaccINSaaaaaaaaatgtgtaagttg																										TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr13:33344887_33344888insA	ENST00000315596.10	+	33	4346_4347	c.4160_4161insA	c.(4159-4164)ccaaaafs	p.PK1387fs		NM_015032.3	NP_055847.1	Q9NTI5	PDS5B_HUMAN	PDS5, regulator of cohesion maintenance, homolog B (S. cerevisiae)	1387					cell proliferation (GO:0008283)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid cohesion (GO:0007064)|negative regulation of cell proliferation (GO:0008285)|regulation of cell proliferation (GO:0042127)	chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)	p.N1390fs*4(1)		NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|lung(14)|ovary(5)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	62		Lung SC(185;0.0367)		all cancers(112;5.55e-06)|Epithelial(112;2.7e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00303)|BRCA - Breast invasive adenocarcinoma(63;0.0204)		CCATCACAACCAAAAAAAAATG	0.337																																						ENST00000315596.10																			1	Deletion - Frameshift(1)	p.N1390fs*4(1)	ovary(1)	NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|lung(14)|ovary(5)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	62						c.(4159-4161)caafs		PDS5, regulator of cohesion maintenance, homolog B (S. cerevisiae)																																				SO:0001589	frameshift_variant	23047				cell division|cell proliferation|mitotic sister chromatid cohesion|negative regulation of cell proliferation	chromatin|nucleus	ATP binding|DNA binding|identical protein binding	g.chr13:33344887_33344888insA	AB023196	CCDS41878.1	13q12.3	2008-02-05	2007-07-18	2007-07-18	ENSG00000083642	ENSG00000083642			20418	protein-coding gene	gene with protein product		605333	"androgen-induced proliferation inhibitor"	APRIN		8812419, 10215036	Standard	NM_015032		Approved	AS3, KIAA0979, FLJ23236, CG008	uc010abf.3	Q9NTI5	OTTHUMG00000016704	ENST00000315596.10:c.4169dupA	13.37:g.33344896_33344896dupA	ENSP00000313851:p.Pro1387fs						p.Q1387fs	NM_015032.3	NP_055847.1	Q9NTI5	PDS5B_HUMAN		all cancers(112;5.55e-06)|Epithelial(112;2.7e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00303)|BRCA - Breast invasive adenocarcinoma(63;0.0204)	33	4346_4347	+		Lung SC(185;0.0367)	1387					Q5R3S3|Q5W0K8|Q6NSC3|Q8IXT6|Q9H5N8|Q9Y2I5|Q9Y451	Frame_Shift_Ins	INS	ENST00000315596.10	37	c.4160_4161insA	CCDS41878.1																																																																																				0.337	PDS5B-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044428.3	NM_015032		4	7						4	7	---	---	---	---	A	33344888	-	A	33344887	7	5	435	1	0	1	1	0	0	0	0	0	11692	594	21	0	4286	0	PDS5B	13	33344887	Frame_Shift_Ins	INS	-	TCGA-XK-AAIW-01A-11D-A41K-08	83607	33344887	81824991	6017	26942											
RFC3	5983	broad.mit.edu	37	chr13	34404122	34404122	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ctattcgtagtaggtgcttgGcggttcgtgtgcctgctccc	3	14	13	11	3	0	0	0	0	0	0	3	0	1	0	2	3	3	5	2	3	3	6			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr13:34404122G>A	ENST00000380071.3	+	5	671	c.541G>A	c.(541-543)Gcg>Acg	p.A181T	RFC3_ENST00000434425.1_Missense_Mutation_p.A181T|RNU5A-4P_ENST00000516588.1_RNA	NM_002915.3	NP_002906.1	P40938	RFC3_HUMAN	replication factor C (activator 1) 3, 38kDa	181					ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA synthesis involved in DNA repair (GO:0000731)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|response to organophosphorus (GO:0046683)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	DNA replication factor C complex (GO:0005663)|nucleoplasm (GO:0005654)	DNA clamp loader activity (GO:0003689)			lung(2)|skin(1)	3		Hepatocellular(188;0.0191)|Lung SC(185;0.0548)		all cancers(112;5.09e-06)|Epithelial(112;6.52e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00107)|OV - Ovarian serous cystadenocarcinoma(117;0.0285)|GBM - Glioblastoma multiforme(144;0.123)		TAGGTGCTTGGCGGTTCGTGT	0.403																																						ENST00000380071.3																			0				lung(2)|skin(1)	3						c.(541-543)Gcg>Acg		replication factor C (activator 1) 3, 38kDa							167	144	152					13																	34404122		2203	4300	6503	SO:0001583	missense	5983				cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA synthesis involved in DNA repair|nucleotide-excision repair, DNA gap filling|response to organophosphorus|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	DNA replication factor C complex|nucleoplasm	ATP binding|DNA clamp loader activity|protein binding	g.chr13:34404122G>A		CCDS9352.1, CCDS45025.1	13q13.2	2010-04-21	2002-08-29		ENSG00000133119	ENSG00000133119		"ATPases / AAA-type"	9971	protein-coding gene	gene with protein product	"RFC, 38 kD subunit", "A1 38 kDa subunit"	600405	"replication factor C (activator 1) 3 (38kD)"			7774928	Standard	NM_002915		Approved	RFC38, MGC5276	uc001uuz.3	P40938	OTTHUMG00000016715	ENST00000380071.3:c.541G>A	13.37:g.34404122G>A	ENSP00000369411:p.Ala181Thr					RFC3_ENST00000434425.1_Missense_Mutation_p.A181T	p.A181T	NM_002915.3	NP_002906.1	P40938	RFC3_HUMAN		all cancers(112;5.09e-06)|Epithelial(112;6.52e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00107)|OV - Ovarian serous cystadenocarcinoma(117;0.0285)|GBM - Glioblastoma multiforme(144;0.123)	5	671	+		Hepatocellular(188;0.0191)|Lung SC(185;0.0548)	181					C9JU95|O15252|Q5W0E8	Missense_Mutation	SNP	ENST00000380071.3	37	c.541G>A	CCDS9352.1	.	.	.	.	.	.	.	.	.	.	G	13.74	2.326338	0.41197	.	.	ENSG00000133119	ENST00000380071;ENST00000434425	T;T	0.40756	1.02;1.02	5.48	5.48	0.80851	ATPase, AAA+ type, core (1);	0.098186	0.64402	D	0.000001	T	0.31918	0.0812	L	0.35414	1.06	0.58432	D	0.999992	B;B;B	0.12630	0.006;0.002;0.001	B;B;B	0.17433	0.018;0.015;0.009	T	0.09079	-1.0691	10	0.16420	T	0.52	-9.0598	13.701	0.62608	0.0765:0.0:0.9235:0.0	.	181;181;181	B4DKE6;C9JU95;P40938	.;.;RFC3_HUMAN	T	181	ENSP00000369411:A181T;ENSP00000401001:A181T	ENSP00000369411:A181T	A	+	1	0	RFC3	33302122	1.000000	0.71417	1.000000	0.80357	0.913000	0.54294	7.398000	0.79919	2.567000	0.86603	0.650000	0.86243	GCG		0.403	RFC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044450.2	NM_002915		29	53	0	0	0	1	0	29	53					A	34404122	G	A	34404122	3	1	435	1	0	0	0	0	1	0	0	0	13246	1203	42	3	559	3	RFC3	13	34404122	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	1059235	34404122	80765756	6018	26943											
MAB21L1	4081	broad.mit.edu	37	chr13	36049680	36049680	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgccttgacctccgccaccCggttgggtcccggccagggg	3	6	14	18	4	0	1	0	1	0	0	2	1	2	1	8	5	0	1	8	5	0	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr13:36049680C>T	ENST00000379919.4	-	1	1152	c.596G>A	c.(595-597)cGg>cAg	p.R199Q	NBEA_ENST00000540320.1_Intron|NBEA_ENST00000537702.1_5'Flank|NBEA_ENST00000310336.4_Intron|NBEA_ENST00000379939.2_Intron|NBEA_ENST00000400445.3_Intron	NM_005584.4	NP_005575.1	Q13394	MB211_HUMAN	mab-21-like 1 (C. elegans)	199					anatomical structure morphogenesis (GO:0009653)|camera-type eye development (GO:0043010)|positive regulation of cell proliferation (GO:0008284)	nucleus (GO:0005634)				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	20		Breast(139;0.014)|Lung SC(185;0.051)|Prostate(109;0.202)		all cancers(112;9.63e-08)|Epithelial(112;1.37e-06)|BRCA - Breast invasive adenocarcinoma(63;0.000659)|OV - Ovarian serous cystadenocarcinoma(117;0.00372)|GBM - Glioblastoma multiforme(144;0.115)		CTCCGCCACCCGGTTGGGTCC	0.647																																						ENST00000379919.4																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	20						c.(595-597)cGg>cAg		mab-21-like 1 (C. elegans)							42	50	47					13																	36049680		2203	4299	6502	SO:0001583	missense	4081				anatomical structure morphogenesis	nucleus		g.chr13:36049680C>T	BC028170	CCDS9353.1	13q13.3	2008-02-05	2001-11-28		ENSG00000180660	ENSG00000180660			6757	protein-coding gene	gene with protein product		601280	"mab-21 (C. elegans)-like 1"			8733127	Standard	NM_005584		Approved	CAGR1		Q13394	OTTHUMG00000016723	ENST00000379919.4:c.596G>A	13.37:g.36049680C>T	ENSP00000369251:p.Arg199Gln					NBEA_ENST00000310336.4_Intron|NBEA_ENST00000379939.2_Intron|NBEA_ENST00000400445.3_Intron|NBEA_ENST00000540320.1_Intron	p.R199Q	NM_005584.4	NP_005575.1	Q13394	MB211_HUMAN		all cancers(112;9.63e-08)|Epithelial(112;1.37e-06)|BRCA - Breast invasive adenocarcinoma(63;0.000659)|OV - Ovarian serous cystadenocarcinoma(117;0.00372)|GBM - Glioblastoma multiforme(144;0.115)	1	1152	-		Breast(139;0.014)|Lung SC(185;0.051)|Prostate(109;0.202)	199					Q6I9T5	Missense_Mutation	SNP	ENST00000379919.4	37	c.596G>A	CCDS9353.1	.	.	.	.	.	.	.	.	.	.	C	19.10	3.761942	0.69763	.	.	ENSG00000180660	ENST00000379919	T	0.08193	3.12	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	T	0.10508	0.0257	L	0.29908	0.895	0.80722	D	1	P	0.51449	0.945	P	0.45310	0.476	T	0.23833	-1.0177	10	0.22706	T	0.39	-49.1114	19.9576	0.97228	0.0:1.0:0.0:0.0	.	199	Q13394	MB211_HUMAN	Q	199	ENSP00000369251:R199Q	ENSP00000369251:R199Q	R	-	2	0	MAB21L1	34947680	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.818000	0.86416	2.736000	0.93811	0.655000	0.94253	CGG		0.647	MAB21L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044459.3	NM_005584		20	45	0	0	0	1	0	20	45					T	36049680	C	T	36049680	3	4	435	1	0	0	0	0	1	0	0	0	9141	652	23	2	487	2	MAB21L1	13	36049680	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	1645558	36049680	79120198	6019	26944											
MAB21L1	4081	broad.mit.edu	37	chr13	36049744	36049744	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agcactcctcggccagatccCggtgcatttaaaggccggcg	8	7	12	14	4	0	1	0	0	0	1	3	1	2	1	4	4	2	2	4	4	2	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr13:36049744C>T	ENST00000379919.4	-	1	1088	c.532G>A	c.(532-534)Ggg>Agg	p.G178R	NBEA_ENST00000540320.1_Intron|NBEA_ENST00000537702.1_5'Flank|NBEA_ENST00000310336.4_Intron|NBEA_ENST00000379939.2_Intron|NBEA_ENST00000400445.3_Intron	NM_005584.4	NP_005575.1	Q13394	MB211_HUMAN	mab-21-like 1 (C. elegans)	178					anatomical structure morphogenesis (GO:0009653)|camera-type eye development (GO:0043010)|positive regulation of cell proliferation (GO:0008284)	nucleus (GO:0005634)				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	20		Breast(139;0.014)|Lung SC(185;0.051)|Prostate(109;0.202)		all cancers(112;9.63e-08)|Epithelial(112;1.37e-06)|BRCA - Breast invasive adenocarcinoma(63;0.000659)|OV - Ovarian serous cystadenocarcinoma(117;0.00372)|GBM - Glioblastoma multiforme(144;0.115)		GGCCAGATCCCGGTGCATTTA	0.592																																						ENST00000379919.4																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	20						c.(532-534)Ggg>Agg		mab-21-like 1 (C. elegans)							56	62	60					13																	36049744		2203	4300	6503	SO:0001583	missense	4081				anatomical structure morphogenesis	nucleus		g.chr13:36049744C>T	BC028170	CCDS9353.1	13q13.3	2008-02-05	2001-11-28		ENSG00000180660	ENSG00000180660			6757	protein-coding gene	gene with protein product		601280	"mab-21 (C. elegans)-like 1"			8733127	Standard	NM_005584		Approved	CAGR1		Q13394	OTTHUMG00000016723	ENST00000379919.4:c.532G>A	13.37:g.36049744C>T	ENSP00000369251:p.Gly178Arg					NBEA_ENST00000310336.4_Intron|NBEA_ENST00000379939.2_Intron|NBEA_ENST00000400445.3_Intron|NBEA_ENST00000540320.1_Intron	p.G178R	NM_005584.4	NP_005575.1	Q13394	MB211_HUMAN		all cancers(112;9.63e-08)|Epithelial(112;1.37e-06)|BRCA - Breast invasive adenocarcinoma(63;0.000659)|OV - Ovarian serous cystadenocarcinoma(117;0.00372)|GBM - Glioblastoma multiforme(144;0.115)	1	1088	-		Breast(139;0.014)|Lung SC(185;0.051)|Prostate(109;0.202)	178					Q6I9T5	Missense_Mutation	SNP	ENST00000379919.4	37	c.532G>A	CCDS9353.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.266331	0.80358	.	.	ENSG00000180660	ENST00000379919	T	0.07216	3.21	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	T	0.33556	0.0867	M	0.83852	2.665	0.80722	D	1	D	0.76494	0.999	D	0.66716	0.946	T	0.03483	-1.1032	10	0.54805	T	0.06	-45.6221	19.7375	0.96212	0.0:1.0:0.0:0.0	.	178	Q13394	MB211_HUMAN	R	178	ENSP00000369251:G178R	ENSP00000369251:G178R	G	-	1	0	MAB21L1	34947744	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.786000	0.85741	2.680000	0.91292	0.655000	0.94253	GGG		0.592	MAB21L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044459.3	NM_005584		11	48	0	0	0	1	0	11	48					T	36049744	C	T	36049744	3	4	435	1	0	0	0	0	1	0	0	0	9141	652	23	2	551	2	MAB21L1	13	36049744	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	64	36049744	79120134	6020	26945											
DCLK1	9201	broad.mit.edu	37	chr13	36700137	36700137	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcggagctgagcgtctgcagCgtgcgggtgcggtagaagct	6	8	18	9	5	1	2	0	1	1	1	2	3	1	3	0	3	7	4	0	3	2	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr13:36700137C>T	ENST00000360631.3	-	2	349	c.138G>A	c.(136-138)acG>acA	p.T46T	DCLK1_ENST00000379892.4_Silent_p.T46T|DCLK1_ENST00000255448.4_Silent_p.T46T			O15075	DCLK1_HUMAN	doublecortin-like kinase 1	46			T -> M (in a gastric adenocarcinoma sample; somatic mutation). {ECO:0000269|PubMed:17344846}.		axon extension (GO:0048675)|central nervous system development (GO:0007417)|central nervous system projection neuron axonogenesis (GO:0021952)|dendrite morphogenesis (GO:0048813)|endosomal transport (GO:0016197)|forebrain development (GO:0030900)|nervous system development (GO:0007399)|neuron migration (GO:0001764)|protein phosphorylation (GO:0006468)|response to virus (GO:0009615)	integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein activity (GO:0005057)			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(18)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(6)|urinary_tract(1)	64		Breast(139;0.0147)|Lung SC(185;0.0685)|Prostate(109;0.122)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.72e-06)|Epithelial(112;4.24e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00159)|OV - Ovarian serous cystadenocarcinoma(117;0.0158)|GBM - Glioblastoma multiforme(144;0.0638)		GCGTCTGCAGCGTGCGGGTGC	0.597																																						ENST00000255448.4																			0				breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(18)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(6)|urinary_tract(1)	64						c.(136-138)acG>acA		doublecortin-like kinase 1							74	69	71					13																	36700137		2203	4300	6503	SO:0001819	synonymous_variant	9201				cell differentiation|central nervous system development|endosome transport|intracellular signal transduction|response to virus	integral to plasma membrane	ATP binding|protein serine/threonine kinase activity|receptor signaling protein activity	g.chr13:36700137C>T	AB002367	CCDS9354.1, CCDS55895.1, CCDS73561.1	13q13.3	2008-02-05	2007-04-02	2007-04-02	ENSG00000133083	ENSG00000133083			2700	protein-coding gene	gene with protein product		604742	"doublecortin and CaM kinase-like 1"	DCAMKL1		9747029, 10036192	Standard	NM_004734		Approved	KIAA0369, DCLK, DCDC3A	uc001uvf.3	O15075	OTTHUMG00000016729	ENST00000360631.3:c.138G>A	13.37:g.36700137C>T						DCLK1_ENST00000360631.3_Silent_p.T46T|DCLK1_ENST00000379892.4_Silent_p.T46T	p.T46T	NM_004734.4	NP_004725.1	O15075	DCLK1_HUMAN	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.72e-06)|Epithelial(112;4.24e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00159)|OV - Ovarian serous cystadenocarcinoma(117;0.0158)|GBM - Glioblastoma multiforme(144;0.0638)	2	349	-		Breast(139;0.0147)|Lung SC(185;0.0685)|Prostate(109;0.122)	46		T -> M (in a gastric adenocarcinoma sample; somatic mutation).			B7Z3E9|Q5VZY8|Q5VZZ0|Q5VZZ1	Silent	SNP	ENST00000360631.3	37	c.138G>A																																																																																					0.597	DCLK1-010	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000044487.1	NM_004734		20	27	0	0	0	1	0	20	27					T	36700137	C	T	36700137	2	4	435	1	0	0	0	0	0	0	0	1	4291	755	27	1		1	DCLK1	13	36700137	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	650393	36700137	78469741	6021	26946											
POSTN	10631	broad.mit.edu	37	chr13	38154121	38154121	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgcagcttcaagtaggctgaGgaaggtgctaagtgggaaga	12	8	16	5	0	1	2	1	1	0	1	1	4	1	4	0	4	3	5	0	4	5	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr13:38154121G>T	ENST00000379747.4	-	12	1654	c.1537C>A	c.(1537-1539)Ctc>Atc	p.L513I	POSTN_ENST00000541179.1_Missense_Mutation_p.L513I|POSTN_ENST00000379742.4_Missense_Mutation_p.L513I|POSTN_ENST00000541481.1_Missense_Mutation_p.L513I|POSTN_ENST00000379749.4_Missense_Mutation_p.L513I|POSTN_ENST00000379743.4_Missense_Mutation_p.L513I	NM_006475.2	NP_006466.2	Q15063	POSTN_HUMAN	periostin, osteoblast specific factor	513	FAS1 4. {ECO:0000255|PROSITE- ProRule:PRU00082, ECO:0000305}.				cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|regulation of Notch signaling pathway (GO:0008593)|skeletal system development (GO:0001501)|tissue development (GO:0009888)	proteinaceous extracellular matrix (GO:0005578)|trans-Golgi network (GO:0005802)	heparin binding (GO:0008201)			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(16)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	59		Lung NSC(96;2.09e-05)|Prostate(109;0.0513)|Breast(139;0.0538)|Lung SC(185;0.0743)		all cancers(112;2.48e-08)|Epithelial(112;2.78e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000853)|BRCA - Breast invasive adenocarcinoma(63;0.013)|GBM - Glioblastoma multiforme(144;0.0154)		AGTAGGCTGAGGAAGGTGCTA	0.398																																						ENST00000379747.4																			0				cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(16)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	59						c.(1537-1539)Ctc>Atc		periostin, osteoblast specific factor							157	140	146					13																	38154121		2203	4300	6503	SO:0001583	missense	10631				cell adhesion|skeletal system development	proteinaceous extracellular matrix	heparin binding	g.chr13:38154121G>T	D13665	CCDS9364.1, CCDS45034.1, CCDS53864.1, CCDS66530.1, CCDS66531.1	13q13.3	2008-02-05			ENSG00000133110	ENSG00000133110			16953	protein-coding gene	gene with protein product		608777				8363580, 12235007	Standard	NM_006475		Approved	OSF-2, PN, periostin	uc001uwo.4	Q15063	OTTHUMG00000016751	ENST00000379747.4:c.1537C>A	13.37:g.38154121G>T	ENSP00000369071:p.Leu513Ile					POSTN_ENST00000379742.4_Missense_Mutation_p.L513I|POSTN_ENST00000541481.1_Missense_Mutation_p.L513I|POSTN_ENST00000379743.4_Missense_Mutation_p.L513I|POSTN_ENST00000379749.4_Missense_Mutation_p.L513I|POSTN_ENST00000541179.1_Missense_Mutation_p.L513I	p.L513I	NM_006475.2	NP_006466.2	Q15063	POSTN_HUMAN		all cancers(112;2.48e-08)|Epithelial(112;2.78e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000853)|BRCA - Breast invasive adenocarcinoma(63;0.013)|GBM - Glioblastoma multiforme(144;0.0154)	12	1654	-		Lung NSC(96;2.09e-05)|Prostate(109;0.0513)|Breast(139;0.0538)|Lung SC(185;0.0743)	513			FAS1 4.		B1ALD8|C0IMJ1|C0IMJ2|C0IMJ4|D2KRH7|F5H628|Q15064|Q29XZ0|Q3KPJ5|Q5VSY5|Q8IZF9	Missense_Mutation	SNP	ENST00000379747.4	37	c.1537C>A	CCDS9364.1	.	.	.	.	.	.	.	.	.	.	G	17.22	3.334653	0.60853	.	.	ENSG00000133110	ENST00000541179;ENST00000379749;ENST00000379747;ENST00000379743;ENST00000379742;ENST00000541481	D;D;D;D;D;D	0.91996	-2.95;-2.95;-2.95;-2.95;-2.95;-2.95	5.32	5.32	0.75619	FAS1 domain (4);	0.000000	0.85682	D	0.000000	D	0.95033	0.8392	L	0.52905	1.665	0.53688	D	0.999975	D;D;D;D;D;P;D	0.89917	0.999;0.998;1.0;0.999;0.992;0.537;1.0	D;D;D;D;D;B;D	0.91635	0.997;0.995;0.999;0.995;0.986;0.343;0.999	D	0.94016	0.7288	10	0.39692	T	0.17	-13.3697	19.3495	0.94378	0.0:0.0:1.0:0.0	.	513;513;513;513;513;513;513	C0IMJ4;F5H628;B1ALD8;Q15063-3;Q15063-4;Q15063-2;Q15063	.;.;.;.;.;.;POSTN_HUMAN	I	513	ENSP00000437959:L513I;ENSP00000369073:L513I;ENSP00000369071:L513I;ENSP00000369067:L513I;ENSP00000369066:L513I;ENSP00000437953:L513I	ENSP00000369066:L513I	L	-	1	0	POSTN	37052121	1.000000	0.71417	1.000000	0.80357	0.578000	0.36192	3.504000	0.53347	2.644000	0.89710	0.591000	0.81541	CTC		0.398	POSTN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000044566.2	NM_006475		34	48	1	0	8.16277e-20	1	9.0371e-20	34	48					T	38154121	G	T	38154121	3	4	435	1	0	0	0	0	1	0	0	0	12259	1000	35	5	1021	5	POSTN	13	38154121	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	1453984	38154121	77015757	6022	26947											
POSTN	10631	broad.mit.edu	37	chr13	38154776	38154776	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tctcgcggaatatgtgaatcGcaccgtttctcccttgctta	7	14	8	12	4	2	1	0	1	2	0	5	2	2	2	2	1	1	3	2	1	4	4	rs145787730		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr13:38154776G>A	ENST00000379747.4	-	11	1568	c.1451C>T	c.(1450-1452)gCg>gTg	p.A484V	POSTN_ENST00000541179.1_Missense_Mutation_p.A484V|POSTN_ENST00000379742.4_Missense_Mutation_p.A484V|POSTN_ENST00000541481.1_Missense_Mutation_p.A484V|POSTN_ENST00000379749.4_Missense_Mutation_p.A484V|POSTN_ENST00000379743.4_Missense_Mutation_p.A484V	NM_006475.2	NP_006466.2	Q15063	POSTN_HUMAN	periostin, osteoblast specific factor	484	FAS1 3. {ECO:0000255|PROSITE- ProRule:PRU00082, ECO:0000305}.				cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|regulation of Notch signaling pathway (GO:0008593)|skeletal system development (GO:0001501)|tissue development (GO:0009888)	proteinaceous extracellular matrix (GO:0005578)|trans-Golgi network (GO:0005802)	heparin binding (GO:0008201)			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(16)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	59		Lung NSC(96;2.09e-05)|Prostate(109;0.0513)|Breast(139;0.0538)|Lung SC(185;0.0743)		all cancers(112;2.48e-08)|Epithelial(112;2.78e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000853)|BRCA - Breast invasive adenocarcinoma(63;0.013)|GBM - Glioblastoma multiforme(144;0.0154)		TATGTGAATCGCACCGTTTCT	0.443													G|||	1	0.000199681	0	0	5008	,	,		17302	0		0.001	False		,,,				2504	0					ENST00000379747.4																			0				cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(16)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	59						c.(1450-1452)gCg>gTg		periostin, osteoblast specific factor		G	VAL/ALA,VAL/ALA,VAL/ALA,VAL/ALA	0,4406		0,0,2203	302	276	285		1451,1451,1451,1451	4.2	1	13	dbSNP_134	285	15,8585	11.2+/-40.8	0,15,4285	yes	missense,missense,missense,missense	POSTN	NM_001135934.1,NM_001135935.1,NM_001135936.1,NM_006475.2	64,64,64,64	0,15,6488	AA,AG,GG		0.1744,0.0,0.1153	probably-damaging,probably-damaging,probably-damaging,probably-damaging	484/780,484/782,484/752,484/837	38154776	15,12991	2203	4300	6503	SO:0001583	missense	10631				cell adhesion|skeletal system development	proteinaceous extracellular matrix	heparin binding	g.chr13:38154776G>A	D13665	CCDS9364.1, CCDS45034.1, CCDS53864.1, CCDS66530.1, CCDS66531.1	13q13.3	2008-02-05			ENSG00000133110	ENSG00000133110			16953	protein-coding gene	gene with protein product		608777				8363580, 12235007	Standard	NM_006475		Approved	OSF-2, PN, periostin	uc001uwo.4	Q15063	OTTHUMG00000016751	ENST00000379747.4:c.1451C>T	13.37:g.38154776G>A	ENSP00000369071:p.Ala484Val					POSTN_ENST00000379742.4_Missense_Mutation_p.A484V|POSTN_ENST00000541481.1_Missense_Mutation_p.A484V|POSTN_ENST00000379743.4_Missense_Mutation_p.A484V|POSTN_ENST00000379749.4_Missense_Mutation_p.A484V|POSTN_ENST00000541179.1_Missense_Mutation_p.A484V	p.A484V	NM_006475.2	NP_006466.2	Q15063	POSTN_HUMAN		all cancers(112;2.48e-08)|Epithelial(112;2.78e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000853)|BRCA - Breast invasive adenocarcinoma(63;0.013)|GBM - Glioblastoma multiforme(144;0.0154)	11	1568	-		Lung NSC(96;2.09e-05)|Prostate(109;0.0513)|Breast(139;0.0538)|Lung SC(185;0.0743)	484			FAS1 3.		B1ALD8|C0IMJ1|C0IMJ2|C0IMJ4|D2KRH7|F5H628|Q15064|Q29XZ0|Q3KPJ5|Q5VSY5|Q8IZF9	Missense_Mutation	SNP	ENST00000379747.4	37	c.1451C>T	CCDS9364.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	12.05	1.821520	0.32237	0.0	0.001744	ENSG00000133110	ENST00000541179;ENST00000379749;ENST00000379747;ENST00000379743;ENST00000379742;ENST00000541481	D;D;D;D;D;D	0.86432	-2.12;-2.12;-2.12;-2.12;-2.12;-2.12	5.03	4.18	0.49190	FAS1 domain (6);	0.102181	0.64402	D	0.000003	T	0.80854	0.4703	N	0.17474	0.49	0.41103	D	0.985681	D;D;D;D;D;B;D	0.60160	0.987;0.971;0.986;0.984;0.98;0.334;0.986	P;B;P;B;B;B;P	0.57057	0.535;0.399;0.812;0.399;0.32;0.092;0.812	T	0.77814	-0.2448	10	0.02654	T	1	-11.1047	8.6814	0.34212	0.2244:0.0:0.7756:0.0	.	484;484;484;484;484;484;484	C0IMJ4;F5H628;B1ALD8;Q15063-3;Q15063-4;Q15063-2;Q15063	.;.;.;.;.;.;POSTN_HUMAN	V	484	ENSP00000437959:A484V;ENSP00000369073:A484V;ENSP00000369071:A484V;ENSP00000369067:A484V;ENSP00000369066:A484V;ENSP00000437953:A484V	ENSP00000369066:A484V	A	-	2	0	POSTN	37052776	1.000000	0.71417	0.963000	0.40424	0.164000	0.22412	7.015000	0.76387	1.232000	0.43678	0.563000	0.77884	GCG		0.443	POSTN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000044566.2	NM_006475		25	121	0	0	0	1	0	25	121					A	38154776	G	A	38154776	3	1	435	1	0	0	0	0	1	0	0	0	12259	1087	38	1	1111	1	POSTN	13	38154776	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	655	38154776	77015102	6023	26948											
TRPC4	7223	broad.mit.edu	37	chr13	38211514	38211514	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctgaaccaccagggcagaGccattgcttatgttatgtct	9	12	9	11	0	1	2	0	1	1	1	2	2	2	2	4	1	3	3	4	1	3	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr13:38211514G>A	ENST00000379705.3	-	11	3317	c.2460C>T	c.(2458-2460)ggC>ggT	p.G820G	TRPC4_ENST00000379673.2_Intron|TRPC4_ENST00000379681.3_Silent_p.G825G|TRPC4_ENST00000358477.2_Intron|TRPC4_ENST00000447043.1_Intron|TRPC4_ENST00000338947.5_Silent_p.G647G|TRPC4_ENST00000426868.2_Intron|TRPC4_ENST00000355779.2_Intron|TRPC4_ENST00000379679.1_Silent_p.G647G			Q9UBN4	TRPC4_HUMAN	transient receptor potential cation channel, subfamily C, member 4	820	Binds to ITPR1, ITPR2 and ITPR3.				axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|gamma-aminobutyric acid secretion (GO:0014051)|ion transmembrane transport (GO:0034220)|oligodendrocyte differentiation (GO:0048709)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|calcium channel complex (GO:0034704)|caveola (GO:0005901)|cell surface (GO:0009986)|cortical cytoskeleton (GO:0030863)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|inositol 1,4,5 trisphosphate binding (GO:0070679)|store-operated calcium channel activity (GO:0015279)			NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	83				all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)		CCAGGGCAGAGCCATTGCTTA	0.428																																						ENST00000379705.3																			0				NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	83						c.(2458-2460)ggC>ggT		transient receptor potential cation channel, subfamily C, member 4							78	79	78					13																	38211514		2203	4300	6503	SO:0001819	synonymous_variant	7223				axon guidance|calcium ion import	basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton	beta-catenin binding|cadherin binding|store-operated calcium channel activity	g.chr13:38211514G>A	U40983	CCDS9365.1, CCDS45035.1, CCDS45036.1, CCDS45038.1, CCDS45039.1	13q13.3	2013-01-10			ENSG00000133107	ENSG00000133107		"Voltage-gated ion channels / Transient receptor potential cation channels", "Ankyrin repeat domain containing"	12336	protein-coding gene	gene with protein product		603651				8646775, 16382100	Standard	NM_016179		Approved	HTRP4, TRP4	uc010abx.3	Q9UBN4	OTTHUMG00000016752	ENST00000379705.3:c.2460C>T	13.37:g.38211514G>A						TRPC4_ENST00000355779.2_Intron|TRPC4_ENST00000379681.3_Silent_p.G825G|TRPC4_ENST00000358477.2_Intron|TRPC4_ENST00000447043.1_Intron|TRPC4_ENST00000379679.1_Silent_p.G647G|TRPC4_ENST00000338947.5_Silent_p.G647G|TRPC4_ENST00000379673.2_Intron|TRPC4_ENST00000426868.2_Intron	p.G820G			Q9UBN4	TRPC4_HUMAN		all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)	11	3317	-			820			Binds to ITPR1, ITPR2 and ITPR3.		B1ALE0|B1ALE1|B1ALE2|Q15721|Q3SWS6|Q96P03|Q96P04|Q96P05|Q9UIB0|Q9UIB1|Q9UIB2	Silent	SNP	ENST00000379705.3	37	c.2460C>T	CCDS9365.1																																																																																				0.428	TRPC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044574.2	NM_003306		22	43	0	0	0	1	0	22	43					A	38211514	G	A	38211514	2	1	435	1	0	0	0	0	0	0	0	1	16577	958	34	3		3	TRPC4	13	38211514	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	56738	38211514	76958364	6024	26949											
FREM2	341640	broad.mit.edu	37	chr13	39263301	39263301	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggagtcacccttcttaactaCggggcatctgcttctccgcc	6	11	9	15	2	4	0	1	0	3	0	5	1	4	1	3	3	3	2	3	3	2	4	rs115928688		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr13:39263301C>T	ENST00000280481.7	+	1	2036	c.1820C>T	c.(1819-1821)aCg>aTg	p.T607M		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	607					cell communication (GO:0007154)|homophilic cell adhesion (GO:0007156)|inner ear development (GO:0048839)|morphogenesis of an epithelium (GO:0002009)	basement membrane (GO:0005604)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		TTCTTAACTACGGGGCATCTG	0.527																																						ENST00000280481.7																			0				NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148						c.(1819-1821)aCg>aTg		FRAS1 related extracellular matrix protein 2							131	129	129					13																	39263301		2203	4300	6503	SO:0001583	missense	341640				cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr13:39263301C>T	BX538150	CCDS31960.1	13q13.3	2004-12-15			ENSG00000150893	ENSG00000150893			25396	protein-coding gene	gene with protein product		608945				15345741	Standard	NM_207361		Approved	DKFZp686J0811	uc001uwv.3	Q5SZK8	OTTHUMG00000016759	ENST00000280481.7:c.1820C>T	13.37:g.39263301C>T	ENSP00000280481:p.Thr607Met						p.T607M	NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)	1	2036	+		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)	607					Q4QQG1|Q5H9N8|Q5T6Q1|Q6N057|Q6ZSB4|Q7Z305|Q7Z341	Missense_Mutation	SNP	ENST00000280481.7	37	c.1820C>T	CCDS31960.1	.	.	.	.	.	.	.	.	.	.	C	0.008	-1.914939	0.00503	.	.	ENSG00000150893	ENST00000280481	T	0.18960	2.18	5.41	-0.661	0.11417	.	1.474090	0.03496	N	0.217332	T	0.15825	0.0381	N	0.19112	0.55	0.09310	N	1	B	0.17038	0.02	B	0.12156	0.007	T	0.33471	-0.9867	10	0.30854	T	0.27	.	11.3231	0.49435	0.0:0.4391:0.0:0.5609	.	607	Q5SZK8	FREM2_HUMAN	M	607	ENSP00000280481:T607M	ENSP00000280481:T607M	T	+	2	0	FREM2	38161301	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	0.647000	0.24812	-0.544000	0.06232	-0.997000	0.02515	ACG		0.527	FREM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044599.2	NM_207361		25	28	0	0	0	1	0	25	28					T	39263301	C	T	39263301	3	4	435	1	0	0	0	0	1	0	0	0	6045	536	19	1	1822	1	FREM2	13	39263301	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	1051787	39263301	75906577	6025	26950											
FREM2	341640	broad.mit.edu	37	chr13	39263574	39263574	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgtatccatcctgtggatcGcctccctccggagctgggca	5	10	11	15	3	0	0	0	0	0	0	6	2	4	2	5	3	1	3	5	3	1	1	rs201217034		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr13:39263574G>A	ENST00000280481.7	+	1	2309	c.2093G>A	c.(2092-2094)cGc>cAc	p.R698H		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	698					cell communication (GO:0007154)|homophilic cell adhesion (GO:0007156)|inner ear development (GO:0048839)|morphogenesis of an epithelium (GO:0002009)	basement membrane (GO:0005604)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		CCTGTGGATCGCCTCCCTCCG	0.557																																						ENST00000280481.7																			0				NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148						c.(2092-2094)cGc>cAc		FRAS1 related extracellular matrix protein 2							75	72	73					13																	39263574		2203	4300	6503	SO:0001583	missense	341640				cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr13:39263574G>A	BX538150	CCDS31960.1	13q13.3	2004-12-15			ENSG00000150893	ENSG00000150893			25396	protein-coding gene	gene with protein product		608945				15345741	Standard	NM_207361		Approved	DKFZp686J0811	uc001uwv.3	Q5SZK8	OTTHUMG00000016759	ENST00000280481.7:c.2093G>A	13.37:g.39263574G>A	ENSP00000280481:p.Arg698His						p.R698H	NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)	1	2309	+		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)	698					Q4QQG1|Q5H9N8|Q5T6Q1|Q6N057|Q6ZSB4|Q7Z305|Q7Z341	Missense_Mutation	SNP	ENST00000280481.7	37	c.2093G>A	CCDS31960.1	.	.	.	.	.	.	.	.	.	.	G	11.74	1.728599	0.30593	.	.	ENSG00000150893	ENST00000280481	T	0.29397	1.57	5.97	5.13	0.70059	.	0.240072	0.40728	N	0.001038	T	0.30230	0.0758	M	0.63428	1.95	0.42561	D	0.993144	B	0.09022	0.002	B	0.06405	0.002	T	0.10200	-1.0640	10	0.42905	T	0.14	.	9.2921	0.37793	0.2128:0.0:0.7872:0.0	.	698	Q5SZK8	FREM2_HUMAN	H	698	ENSP00000280481:R698H	ENSP00000280481:R698H	R	+	2	0	FREM2	38161574	1.000000	0.71417	0.999000	0.59377	0.938000	0.57974	4.503000	0.60407	1.541000	0.49316	0.655000	0.94253	CGC		0.557	FREM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044599.2	NM_207361		30	29	0	0	0	1	0	30	29					A	39263574	G	A	39263574	3	1	435	1	0	0	0	0	1	0	0	0	6045	1087	38	1	2095	1	FREM2	13	39263574	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	273	39263574	75906304	6026	26951											
FREM2	341640	broad.mit.edu	37	chr13	39265208	39265208	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcacatcatgaatcagctgAtaaatggcacggttttggtc	11	12	10	8	1	3	2	3	2	0	0	4	2	3	2	0	3	1	3	0	3	3	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr13:39265208A>G	ENST00000280481.7	+	1	3943	c.3727A>G	c.(3727-3729)Ata>Gta	p.I1243V		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	1243					cell communication (GO:0007154)|homophilic cell adhesion (GO:0007156)|inner ear development (GO:0048839)|morphogenesis of an epithelium (GO:0002009)	basement membrane (GO:0005604)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		GAATCAGCTGATAAATGGCAC	0.443																																						ENST00000280481.7																			0				NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148						c.(3727-3729)Ata>Gta		FRAS1 related extracellular matrix protein 2							222	215	217					13																	39265208		2203	4300	6503	SO:0001583	missense	341640				cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr13:39265208A>G	BX538150	CCDS31960.1	13q13.3	2004-12-15			ENSG00000150893	ENSG00000150893			25396	protein-coding gene	gene with protein product		608945				15345741	Standard	NM_207361		Approved	DKFZp686J0811	uc001uwv.3	Q5SZK8	OTTHUMG00000016759	ENST00000280481.7:c.3727A>G	13.37:g.39265208A>G	ENSP00000280481:p.Ile1243Val						p.I1243V	NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)	1	3943	+		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)	1243					Q4QQG1|Q5H9N8|Q5T6Q1|Q6N057|Q6ZSB4|Q7Z305|Q7Z341	Missense_Mutation	SNP	ENST00000280481.7	37	c.3727A>G	CCDS31960.1	.	.	.	.	.	.	.	.	.	.	A	0.014	-1.600536	0.00849	.	.	ENSG00000150893	ENST00000280481	T	0.50277	0.75	6.01	2.22	0.28083	Cadherin (1);	0.215082	0.49916	N	0.000132	T	0.30541	0.0768	L	0.35414	1.06	0.19300	N	0.999974	B	0.06786	0.001	B	0.08055	0.003	T	0.15636	-1.0430	10	0.25751	T	0.34	.	5.9765	0.19382	0.5754:0.233:0.1916:0.0	.	1243	Q5SZK8	FREM2_HUMAN	V	1243	ENSP00000280481:I1243V	ENSP00000280481:I1243V	I	+	1	0	FREM2	38163208	0.000000	0.05858	0.144000	0.22314	0.103000	0.19146	0.458000	0.21892	0.161000	0.19458	0.533000	0.62120	ATA		0.443	FREM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044599.2	NM_207361		72	74	0	0	0	1	0	72	74					G	39265208	A	G	39265208	3	3	435	1	0	0	0	0	1	0	0	0	6045	333	12	4	3729	4	FREM2	13	39265208	Missense_Mutation	SNP	A	TCGA-XK-AAIW-01A-11D-A41K-08	1634	39265208	75904670	6027	26952											
FREM2	341640	broad.mit.edu	37	chr13	39433688	39433688	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ccaatggggatgaaggcctgGagctcatgagccctattgta	10	9	13	9	0	1	2	1	2	0	0	1	4	1	4	3	4	2	2	3	4	4	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr13:39433688G>A	ENST00000280481.7	+	14	7696	c.7480G>A	c.(7480-7482)Gag>Aag	p.E2494K		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	2494					cell communication (GO:0007154)|homophilic cell adhesion (GO:0007156)|inner ear development (GO:0048839)|morphogenesis of an epithelium (GO:0002009)	basement membrane (GO:0005604)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		TGAAGGCCTGGAGCTCATGAG	0.493																																						ENST00000280481.7																			0				NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148						c.(7480-7482)Gag>Aag		FRAS1 related extracellular matrix protein 2							73	69	71					13																	39433688		2203	4300	6503	SO:0001583	missense	341640				cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr13:39433688G>A	BX538150	CCDS31960.1	13q13.3	2004-12-15			ENSG00000150893	ENSG00000150893			25396	protein-coding gene	gene with protein product		608945				15345741	Standard	NM_207361		Approved	DKFZp686J0811	uc001uwv.3	Q5SZK8	OTTHUMG00000016759	ENST00000280481.7:c.7480G>A	13.37:g.39433688G>A	ENSP00000280481:p.Glu2494Lys						p.E2494K	NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)	14	7696	+		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)	2494					Q4QQG1|Q5H9N8|Q5T6Q1|Q6N057|Q6ZSB4|Q7Z305|Q7Z341	Missense_Mutation	SNP	ENST00000280481.7	37	c.7480G>A	CCDS31960.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.315894	0.81469	.	.	ENSG00000150893	ENST00000280481	T	0.20332	2.08	6.16	6.16	0.99307	.	0.000000	0.85682	D	0.000000	T	0.56046	0.1959	M	0.87038	2.855	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.997	T	0.56475	-0.7973	10	0.54805	T	0.06	.	20.8598	0.99761	0.0:0.0:1.0:0.0	.	2494;2494	Q5SZK8-2;Q5SZK8	.;FREM2_HUMAN	K	2494	ENSP00000280481:E2494K	ENSP00000280481:E2494K	E	+	1	0	FREM2	38331688	1.000000	0.71417	0.998000	0.56505	0.066000	0.16364	9.758000	0.98927	2.937000	0.99478	0.650000	0.86243	GAG		0.493	FREM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044599.2	NM_207361		9	19	0	0	0	1	0	9	19					A	39433688	G	A	39433688	3	1	435	1	0	0	0	0	1	0	0	0	6045	1175	41	3	7534	3	FREM2	13	39433688	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	168480	39433688	75736190	6028	26953											
C13orf23	80209	broad.mit.edu	37	chr13	39586877	39586877	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attggaactgaatgctgaggCgaatcctgggaggactggag	11	8	16	6	1	0	2	0	2	0	0	1	7	1	6	1	5	2	1	1	5	3	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr13:39586877C>T	ENST00000352251.3	-	11	3345	c.2512G>A	c.(2512-2514)Gcc>Acc	p.A838T	PROSER1_ENST00000484434.3_Intron|PROSER1_ENST00000350125.3_Missense_Mutation_p.A816T	NM_025138.4	NP_079414.3	Q86XN7	PRSR1_HUMAN	proline and serine rich 1	838																	AATGCTGAGGCGAATCCTGGG	0.527																																						ENST00000352251.3																			0											c.(2512-2514)Gcc>Acc		proline and serine rich 1							57	69	65					13																	39586877		2203	4300	6503	SO:0001583	missense	80209							g.chr13:39586877C>T	AK022723	CCDS9368.2	13q13.2	2011-08-09	2011-08-09	2011-08-09	ENSG00000120685	ENSG00000120685			20291	protein-coding gene	gene with protein product			"chromosome 13 open reading frame 23"	C13orf23			Standard	NM_025138		Approved	bA50D16.2, FLJ12661	uc001uwy.4	Q86XN7	OTTHUMG00000016764	ENST00000352251.3:c.2512G>A	13.37:g.39586877C>T	ENSP00000332034:p.Ala838Thr					PROSER1_ENST00000484434.2_Intron|PROSER1_ENST00000350125.3_Missense_Mutation_p.A816T	p.A838T	NM_025138.3	NP_079414.3	Q86XN7	CM023_HUMAN			11	3345	-			838					A6NJ97|Q6P2S2|Q7Z3X5|Q8N3D2|Q8N3P1|Q9H9M1	Missense_Mutation	SNP	ENST00000352251.3	37	c.2512G>A	CCDS9368.2	.	.	.	.	.	.	.	.	.	.	C	28.6	4.930199	0.92389	.	.	ENSG00000120685	ENST00000352251;ENST00000350125	T;T	0.57907	0.37;0.37	5.47	4.63	0.57726	.	.	.	.	.	T	0.60753	0.2293	L	0.32530	0.975	0.58432	D	0.999997	D;D	0.89917	0.99;1.0	P;D	0.83275	0.602;0.996	T	0.58736	-0.7584	8	.	.	.	-22.0278	13.7605	0.62963	0.0:0.9255:0.0:0.0745	.	816;838	A6NJ97;Q86XN7	.;PRSR1_HUMAN	T	838;816	ENSP00000332034:A838T;ENSP00000339123:A816T	.	A	-	1	0	PROSER1	38484877	1.000000	0.71417	0.680000	0.29994	0.985000	0.73830	4.990000	0.63876	1.443000	0.47586	0.561000	0.74099	GCC		0.527	PROSER1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044607.5	NM_025138		11	24	0	0	0	1	0	11	24					T	39586877	C	T	39586877	3	4	435	1	0	0	0	0	1	0	0	0	1721	768	27	1	334	1	C13orf23	13	39586877	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	153189	39586877	75583001	6029	26954											
COG6	57511	broad.mit.edu	37	chr13	40263922	40263922	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagaaaatattcaagaagtTgttgggcatatcactgaagg	16	10	11	4	0	2	3	2	1	0	2	2	4	2	3	0	2	0	3	0	2	8	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr13:40263922T>C	ENST00000455146.3	+	11	1085	c.1035T>C	c.(1033-1035)gtT>gtC	p.V345V	COG6_ENST00000416691.1_Silent_p.V345V	NM_020751.2	NP_065802.1	Q9Y2V7	COG6_HUMAN	component of oligomeric golgi complex 6	345					glycosylation (GO:0070085)|intra-Golgi vesicle-mediated transport (GO:0006891)|protein transport (GO:0015031)	Golgi transport complex (GO:0017119)|membrane (GO:0016020)				NS(1)|kidney(2)|large_intestine(5)|lung(4)|skin(1)	13		Lung NSC(96;0.000124)|Breast(139;0.0199)|Prostate(109;0.0233)|Lung SC(185;0.0367)		all cancers(112;6.03e-09)|Epithelial(112;7e-07)|OV - Ovarian serous cystadenocarcinoma(117;0.00015)|BRCA - Breast invasive adenocarcinoma(63;0.00438)|GBM - Glioblastoma multiforme(144;0.0168)		TTCAAGAAGTTGTTGGGCATA	0.274																																						ENST00000416691.1																			0				NS(1)|kidney(2)|large_intestine(5)|lung(4)|skin(1)	13						c.(1033-1035)gtT>gtC		component of oligomeric golgi complex 6							78	76	76					13																	40263922		2202	4291	6493	SO:0001819	synonymous_variant	57511				protein transport	Golgi membrane|Golgi transport complex		g.chr13:40263922T>C	AK026638	CCDS9370.1, CCDS45042.1	13q13.2	2011-08-01			ENSG00000133103	ENSG00000133103		"Components of oligomeric golgi complex"	18621	protein-coding gene	gene with protein product		606977				11980916	Standard	NM_020751		Approved	COD2, KIAA1134	uc001uxh.2	Q9Y2V7	OTTHUMG00000016768	ENST00000455146.3:c.1035T>C	13.37:g.40263922T>C						COG6_ENST00000455146.3_Silent_p.V345V	p.V345V	NM_001145079.1	NP_001138551.1	Q9Y2V7	COG6_HUMAN		all cancers(112;6.03e-09)|Epithelial(112;7e-07)|OV - Ovarian serous cystadenocarcinoma(117;0.00015)|BRCA - Breast invasive adenocarcinoma(63;0.00438)|GBM - Glioblastoma multiforme(144;0.0168)	11	1135	+		Lung NSC(96;0.000124)|Breast(139;0.0199)|Prostate(109;0.0233)|Lung SC(185;0.0367)	345					Q5T0U1|Q6AI19|Q86V49|Q9ULT5	Silent	SNP	ENST00000455146.3	37	c.1035T>C	CCDS9370.1																																																																																				0.274	COG6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044622.3			15	21	0	0	0	1	0	15	21					C	40263922	T	C	40263922	2	2	435	1	0	0	0	0	0	0	0	1	3662	1799	63	4		4	COG6	13	40263922	Silent	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	677045	40263922	74905956	6030	26955											
FOXO1	2308	broad.mit.edu	37	chr13	41134687	41134687	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catttgagctagttcgagggCgaaatgtactccagttatca	11	12	10	8	2	1	1	1	1	0	0	3	3	2	1	1	1	2	4	1	1	4	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr13:41134687C>T	ENST00000379561.5	-	2	1325	c.941G>A	c.(940-942)cGc>cAc	p.R314H	FOXO1_ENST00000473775.1_5'Flank	NM_002015.3	NP_002006.2	Q12778	FOXO1_HUMAN	forkhead box O1	314	Sufficient for interaction with NLK. {ECO:0000250}.				apoptotic process (GO:0006915)|autophagy (GO:0006914)|blood vessel development (GO:0001568)|cellular glucose homeostasis (GO:0001678)|cellular response to cold (GO:0070417)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to hyperoxia (GO:0071455)|cellular response to insulin stimulus (GO:0032869)|cellular response to nitric oxide (GO:0071732)|cellular response to oxidative stress (GO:0034599)|cellular response to starvation (GO:0009267)|endocrine pancreas development (GO:0031018)|epidermal growth factor receptor signaling pathway (GO:0007173)|fat cell differentiation (GO:0045444)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|negative regulation of apoptotic process (GO:0043066)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of stress-activated MAPK cascade (GO:0032873)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of apoptotic process (GO:0043065)|positive regulation of autophagy (GO:0010508)|positive regulation of gluconeogenesis (GO:0045722)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein acetylation (GO:0006473)|regulation of cell proliferation (GO:0042127)|regulation of energy homeostasis (GO:2000505)|regulation of gluconeogenesis by regulation of transcription from RNA polymerase II promoter (GO:0035947)|temperature homeostasis (GO:0001659)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|protein phosphatase 2A binding (GO:0051721)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding (GO:0043565)|transcription factor binding transcription factor activity (GO:0000989)|ubiquitin protein ligase binding (GO:0031625)		PAX7/FOXO1(197)|PAX3/FOXO1(749)	central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(7)|kidney(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	20		Lung NSC(96;1.18e-05)|Breast(139;0.00394)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(188;0.194)		all cancers(112;7.32e-09)|Epithelial(112;2.87e-06)|OV - Ovarian serous cystadenocarcinoma(117;6.98e-05)|GBM - Glioblastoma multiforme(144;0.00394)|BRCA - Breast invasive adenocarcinoma(63;0.0815)		AGTTCGAGGGCGAAATGTACT	0.498																																						ENST00000379561.5																		PAX7/FOXO1(197)|PAX3/FOXO1(749)	0				central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(7)|kidney(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	20						c.(940-942)cGc>cAc		forkhead box O1							118	99	105					13																	41134687		2203	4300	6503	SO:0001583	missense	2308				anti-apoptosis|blood vessel development|embryo development|endocrine pancreas development|insulin receptor signaling pathway|negative regulation of stress-activated MAPK cascade|nerve growth factor receptor signaling pathway|pattern specification process|phosphatidylinositol-mediated signaling|positive regulation of transcription from RNA polymerase II promoter|regulation of cell proliferation|regulation of sequence-specific DNA binding transcription factor activity|response to DNA damage stimulus|tissue development	cytosol|transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein kinase binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding	g.chr13:41134687C>T		CCDS9371.1	13q14.1	2011-08-01	2007-05-02	2007-05-02	ENSG00000150907	ENSG00000150907		"Forkhead boxes"	3819	protein-coding gene	gene with protein product		136533	"forkhead homolog in rhabdomyosarcoma"	FKHR, FOXO1A		8275086, 15057823	Standard	NM_002015		Approved	FKH1	uc001uxl.4	Q12778	OTTHUMG00000016775	ENST00000379561.5:c.941G>A	13.37:g.41134687C>T	ENSP00000368880:p.Arg314His						p.R314H	NM_002015.3	NP_002006.2	Q12778	FOXO1_HUMAN		all cancers(112;7.32e-09)|Epithelial(112;2.87e-06)|OV - Ovarian serous cystadenocarcinoma(117;6.98e-05)|GBM - Glioblastoma multiforme(144;0.00394)|BRCA - Breast invasive adenocarcinoma(63;0.0815)	2	1325	-		Lung NSC(96;1.18e-05)|Breast(139;0.00394)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(188;0.194)	314					O43523|Q5VYC7|Q6NSK6	Missense_Mutation	SNP	ENST00000379561.5	37	c.941G>A	CCDS9371.1	.	.	.	.	.	.	.	.	.	.	C	25.8	4.675631	0.88445	.	.	ENSG00000150907	ENST00000379561	D	0.95622	-3.76	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	D	0.97480	0.9175	M	0.69823	2.125	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.997	D	0.97754	1.0216	10	0.62326	D	0.03	-21.7118	18.5619	0.91102	0.0:1.0:0.0:0.0	.	288;314	F8TAD1;Q12778	.;FOXO1_HUMAN	H	314	ENSP00000368880:R314H	ENSP00000368880:R314H	R	-	2	0	FOXO1	40032687	1.000000	0.71417	1.000000	0.80357	0.816000	0.46133	7.487000	0.81328	2.647000	0.89833	0.467000	0.42956	CGC		0.498	FOXO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044634.3	NM_002015		29	31	0	0	0	1	0	29	31					T	41134687	C	T	41134687	3	4	435	1	0	0	0	0	1	0	0	0	6023	768	27	1	1030	1	FOXO1	13	41134687	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	870765	41134687	74035191	6031	26956											
KBTBD6	89890	broad.mit.edu	37	chr13	41705280	41705280	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tggtttctcttaacattgtaGcattccacttccttcaactt	8	18	4	11	0	2	0	1	0	1	0	5	0	4	0	2	1	3	3	2	1	3	8			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr13:41705280G>A	ENST00000379485.1	-	1	1602	c.1368C>T	c.(1366-1368)tgC>tgT	p.C456C	KBTBD6_ENST00000499385.2_Silent_p.C390C	NM_152903.4	NP_690867.3	Q86V97	KBTB6_HUMAN	kelch repeat and BTB (POZ) domain containing 6	456										NS(1)|breast(1)|endometrium(8)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|skin(4)|urinary_tract(4)	43		Lung NSC(96;4.52e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)		all cancers(112;4.08e-09)|Epithelial(112;4.74e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000131)|GBM - Glioblastoma multiforme(144;0.000876)|BRCA - Breast invasive adenocarcinoma(63;0.0673)		TAACATTGTAGCATTCCACTT	0.448																																						ENST00000379485.1																			0				NS(1)|breast(1)|endometrium(8)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|skin(4)|urinary_tract(4)	43						c.(1366-1368)tgC>tgT		kelch repeat and BTB (POZ) domain containing 6							102	104	104					13																	41705280		2203	4300	6503	SO:0001819	synonymous_variant	89890						protein binding	g.chr13:41705280G>A	AK056633	CCDS9376.1	13q13.3	2013-01-08			ENSG00000165572	ENSG00000165572		"BTB/POZ domain containing"	25340	protein-coding gene	gene with protein product						12477932	Standard	NM_152903		Approved	DKFZp547E1912	uc001uxu.1	Q86V97	OTTHUMG00000016786	ENST00000379485.1:c.1368C>T	13.37:g.41705280G>A						KBTBD6_ENST00000499385.2_Silent_p.C390C	p.C456C	NM_152903.4	NP_690867.3	Q86V97	KBTB6_HUMAN		all cancers(112;4.08e-09)|Epithelial(112;4.74e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000131)|GBM - Glioblastoma multiforme(144;0.000876)|BRCA - Breast invasive adenocarcinoma(63;0.0673)	1	1602	-		Lung NSC(96;4.52e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)	456					Q5T6Y8|Q8N8L0|Q8NDM5|Q96MP6	Silent	SNP	ENST00000379485.1	37	c.1368C>T	CCDS9376.1																																																																																				0.448	KBTBD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044657.1	NM_152903		6	54	0	0	0	1	0	6	54					A	41705280	G	A	41705280	2	1	435	1	0	0	0	0	0	0	0	1	7997	963	34	3		3	KBTBD6	13	41705280	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	570593	41705280	73464598	6032	26957											
KBTBD7	84078	broad.mit.edu	37	chr13	41766371	41766371	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgctgatcctgtgcatttcGctgaggtgctacttgcaccc	5	13	10	13	1	0	2	0	2	0	0	2	2	1	2	2	1	5	5	2	1	1	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr13:41766371G>A	ENST00000379483.3	-	1	2331	c.2023C>T	c.(2023-2025)Cga>Tga	p.R675*		NM_032138.4	NP_115514.2	Q8WVZ9	KBTB7_HUMAN	kelch repeat and BTB (POZ) domain containing 7	675										central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(8)|ovary(4)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24		Lung NSC(96;0.000105)|Breast(139;0.00715)|Prostate(109;0.0233)|Lung SC(185;0.0367)		all cancers(112;6.21e-09)|Epithelial(112;6.99e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000196)|GBM - Glioblastoma multiforme(144;0.000857)|BRCA - Breast invasive adenocarcinoma(63;0.0669)		TGTGCATTTCGCTGAGGTGCT	0.398																																						ENST00000379483.3																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(8)|ovary(4)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24						c.(2023-2025)Cga>Tga		kelch repeat and BTB (POZ) domain containing 7							113	110	111					13																	41766371		2203	4300	6503	SO:0001587	stop_gained	84078						protein binding	g.chr13:41766371G>A	AL136782	CCDS9377.1	13q13.3	2013-01-08			ENSG00000120696	ENSG00000120696		"BTB/POZ domain containing"	25266	protein-coding gene	gene with protein product						11230166	Standard	NM_032138		Approved	DKFZP434E2318	uc001uxw.1	Q8WVZ9	OTTHUMG00000016789	ENST00000379483.3:c.2023C>T	13.37:g.41766371G>A	ENSP00000368797:p.Arg675*						p.R675*	NM_032138.4	NP_115514.2	Q8WVZ9	KBTB7_HUMAN		all cancers(112;6.21e-09)|Epithelial(112;6.99e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000196)|GBM - Glioblastoma multiforme(144;0.000857)|BRCA - Breast invasive adenocarcinoma(63;0.0669)	1	2331	-		Lung NSC(96;0.000105)|Breast(139;0.00715)|Prostate(109;0.0233)|Lung SC(185;0.0367)	675					B5TZ86|Q5T6Y7|Q8NB99|Q9H0I6	Nonsense_Mutation	SNP	ENST00000379483.3	37	c.2023C>T	CCDS9377.1	.	.	.	.	.	.	.	.	.	.	G	36	5.794762	0.96952	.	.	ENSG00000120696	ENST00000379483;ENST00000501885	.	.	.	5.06	1.18	0.20946	.	0.270963	0.19619	N	0.109957	.	.	.	.	.	.	0.50467	D	0.999874	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	7.1258	0.25471	0.1668:0.2805:0.5526:0.0	.	.	.	.	X	675;577	.	ENSP00000368797:R675X	R	-	1	2	KBTBD7	40664371	0.998000	0.40836	0.996000	0.52242	0.292000	0.27327	0.995000	0.29706	0.303000	0.22785	-0.262000	0.10625	CGA		0.398	KBTBD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044660.1	NM_032138		42	52	0	0	0	1	0	42	52					A	41766371	G	A	41766371	4	1	435	1	0	0	0	0	0	1	0	0	7998	1095	38	1	35	1	KBTBD7	13	41766371	Nonsense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	61091	41766371	73403507	6033	26958											
KBTBD7	84078	broad.mit.edu	37	chr13	41766626	41766626	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aatccactgatcttccctagTatcatactcatacactgtca	12	13	3	13	0	4	1	3	1	1	0	6	1	6	1	2	0	2	1	2	0	5	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr13:41766626T>C	ENST00000379483.3	-	1	2076	c.1768A>G	c.(1768-1770)Act>Gct	p.T590A		NM_032138.4	NP_115514.2	Q8WVZ9	KBTB7_HUMAN	kelch repeat and BTB (POZ) domain containing 7	590										central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(8)|ovary(4)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24		Lung NSC(96;0.000105)|Breast(139;0.00715)|Prostate(109;0.0233)|Lung SC(185;0.0367)		all cancers(112;6.21e-09)|Epithelial(112;6.99e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000196)|GBM - Glioblastoma multiforme(144;0.000857)|BRCA - Breast invasive adenocarcinoma(63;0.0669)		TCTTCCCTAGTATCATACTCA	0.418																																						ENST00000379483.3																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(8)|ovary(4)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24						c.(1768-1770)Act>Gct		kelch repeat and BTB (POZ) domain containing 7							172	164	166					13																	41766626		2203	4300	6503	SO:0001583	missense	84078						protein binding	g.chr13:41766626T>C	AL136782	CCDS9377.1	13q13.3	2013-01-08			ENSG00000120696	ENSG00000120696		"BTB/POZ domain containing"	25266	protein-coding gene	gene with protein product						11230166	Standard	NM_032138		Approved	DKFZP434E2318	uc001uxw.1	Q8WVZ9	OTTHUMG00000016789	ENST00000379483.3:c.1768A>G	13.37:g.41766626T>C	ENSP00000368797:p.Thr590Ala						p.T590A	NM_032138.4	NP_115514.2	Q8WVZ9	KBTB7_HUMAN		all cancers(112;6.21e-09)|Epithelial(112;6.99e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000196)|GBM - Glioblastoma multiforme(144;0.000857)|BRCA - Breast invasive adenocarcinoma(63;0.0669)	1	2076	-		Lung NSC(96;0.000105)|Breast(139;0.00715)|Prostate(109;0.0233)|Lung SC(185;0.0367)	590					B5TZ86|Q5T6Y7|Q8NB99|Q9H0I6	Missense_Mutation	SNP	ENST00000379483.3	37	c.1768A>G	CCDS9377.1	.	.	.	.	.	.	.	.	.	.	T	0.326	-0.958934	0.02267	.	.	ENSG00000120696	ENST00000379483;ENST00000501885	T	0.66638	-0.22	5.58	1.82	0.25136	Kelch-type beta propeller (1);	0.347812	0.27411	U	0.019496	T	0.33118	0.0852	N	0.02011	-0.69	0.29762	N	0.835474	B	0.02656	0.0	B	0.01281	0.0	T	0.19679	-1.0298	10	0.51188	T	0.08	.	4.0232	0.09675	0.0:0.2745:0.1958:0.5297	.	590	Q8WVZ9	KBTB7_HUMAN	A	590;492	ENSP00000368797:T590A	ENSP00000368797:T590A	T	-	1	0	KBTBD7	40664626	0.968000	0.33430	0.972000	0.41901	0.812000	0.45895	0.766000	0.26560	0.946000	0.37632	-0.385000	0.06624	ACT		0.418	KBTBD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044660.1	NM_032138		35	41	0	0	0	1	0	35	41					C	41766626	T	C	41766626	3	2	435	1	0	0	0	0	1	0	0	0	7998	1638	57	4	290	4	KBTBD7	13	41766626	Missense_Mutation	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	255	41766626	73403252	6034	26959											
KBTBD7	84078	broad.mit.edu	37	chr13	41768203	41768203	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaccacctcgatggtcacaTcacacagcagccgcgcgtcg	9	6	9	17	5	3	0	3	0	0	0	5	1	3	0	3	1	2	1	3	1	0	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr13:41768203T>A	ENST00000379483.3	-	1	499	c.191A>T	c.(190-192)gAt>gTt	p.D64V		NM_032138.4	NP_115514.2	Q8WVZ9	KBTB7_HUMAN	kelch repeat and BTB (POZ) domain containing 7	64	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.									central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(8)|ovary(4)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24		Lung NSC(96;0.000105)|Breast(139;0.00715)|Prostate(109;0.0233)|Lung SC(185;0.0367)		all cancers(112;6.21e-09)|Epithelial(112;6.99e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000196)|GBM - Glioblastoma multiforme(144;0.000857)|BRCA - Breast invasive adenocarcinoma(63;0.0669)		GATGGTCACATCACACAGCAG	0.607																																						ENST00000379483.3																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(8)|ovary(4)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24						c.(190-192)gAt>gTt		kelch repeat and BTB (POZ) domain containing 7							75	72	73					13																	41768203		2203	4300	6503	SO:0001583	missense	84078						protein binding	g.chr13:41768203T>A	AL136782	CCDS9377.1	13q13.3	2013-01-08			ENSG00000120696	ENSG00000120696		"BTB/POZ domain containing"	25266	protein-coding gene	gene with protein product						11230166	Standard	NM_032138		Approved	DKFZP434E2318	uc001uxw.1	Q8WVZ9	OTTHUMG00000016789	ENST00000379483.3:c.191A>T	13.37:g.41768203T>A	ENSP00000368797:p.Asp64Val						p.D64V	NM_032138.4	NP_115514.2	Q8WVZ9	KBTB7_HUMAN		all cancers(112;6.21e-09)|Epithelial(112;6.99e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000196)|GBM - Glioblastoma multiforme(144;0.000857)|BRCA - Breast invasive adenocarcinoma(63;0.0669)	1	499	-		Lung NSC(96;0.000105)|Breast(139;0.00715)|Prostate(109;0.0233)|Lung SC(185;0.0367)	64			BTB.		B5TZ86|Q5T6Y7|Q8NB99|Q9H0I6	Missense_Mutation	SNP	ENST00000379483.3	37	c.191A>T	CCDS9377.1	.	.	.	.	.	.	.	.	.	.	T	17.87	3.494805	0.64186	.	.	ENSG00000120696	ENST00000379483	D	0.91464	-2.85	4.82	4.82	0.62117	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.000000	0.85682	U	0.000000	D	0.97185	0.9080	H	0.98996	4.395	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97979	1.0348	10	0.87932	D	0	.	12.3118	0.54933	0.0:0.0:0.0:1.0	.	64	Q8WVZ9	KBTB7_HUMAN	V	64	ENSP00000368797:D64V	ENSP00000368797:D64V	D	-	2	0	KBTBD7	40666203	1.000000	0.71417	0.978000	0.43139	0.887000	0.51463	6.520000	0.73773	1.790000	0.52503	0.260000	0.18958	GAT		0.607	KBTBD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044660.1	NM_032138		13	34	0	0	0	1	0	13	34					A	41768203	T	A	41768203	3	1	435	1	0	0	0	0	1	0	0	0	7998	1435	50	5	1867	5	KBTBD7	13	41768203	Missense_Mutation	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	1577	41768203	73401675	6035	26960											
NAA16	79612	broad.mit.edu	37	chr13	41947883	41947883	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttaatgaggattttctgaaaCgtaacgctacctctcttcag	11	14	7	9	2	3	2	1	2	2	0	4	3	3	3	1	1	3	2	1	1	4	6			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr13:41947883C>T	ENST00000379406.3	+	18	2590	c.2266C>T	c.(2266-2268)Cgt>Tgt	p.R756C	NAA16_ENST00000497143.1_3'UTR	NM_024561.4	NP_078837.3	Q6N069	NAA16_HUMAN	N(alpha)-acetyltransferase 16, NatA auxiliary subunit	756					N-terminal protein amino acid acetylation (GO:0006474)|negative regulation of apoptotic process (GO:0043066)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|NatA complex (GO:0031415)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ribosome binding (GO:0043022)			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|urinary_tract(2)	31						TTTTCTGAAACGTAACGCTAC	0.363																																						ENST00000379406.3																			0				breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|urinary_tract(2)	31						c.(2266-2268)Cgt>Tgt		N(alpha)-acetyltransferase 16, NatA auxiliary subunit							115	121	119					13																	41947883		2203	4300	6503	SO:0001583	missense	79612				N-terminal protein amino acid acetylation|positive regulation of transcription, DNA-dependent	cytoplasm|transcription factor complex	binding	g.chr13:41947883C>T	AL833341	CCDS9379.1, CCDS45044.1	13q14.11	2013-01-10	2010-01-14	2010-01-14	ENSG00000172766	ENSG00000172766		"N(alpha)-acetyltransferase subunits", "Tetratricopeptide (TTC) repeat domain containing"	26164	protein-coding gene	gene with protein product			"NMDA receptor regulated 1-like"	NARG1L		11483580, 19660095	Standard	NM_024561		Approved	FLJ22054, MGC40612, PRO2435	uc001uyf.2	Q6N069	OTTHUMG00000016791	ENST00000379406.3:c.2266C>T	13.37:g.41947883C>T	ENSP00000368716:p.Arg756Cys					NAA16_ENST00000497143.1_3'UTR	p.R756C	NM_024561.4	NP_078837.3	Q6N069	NAA16_HUMAN			18	2590	+			756					B0QZ59|Q5VSP9|Q6P2D5|Q8N5J3|Q8N870	Missense_Mutation	SNP	ENST00000379406.3	37	c.2266C>T	CCDS9379.1	.	.	.	.	.	.	.	.	.	.	C	10.48	1.361861	0.24684	.	.	ENSG00000172766	ENST00000379406	T	0.46451	0.87	5.76	2.98	0.34508	.	0.372994	0.27941	N	0.017225	T	0.26159	0.0638	N	0.24115	0.695	0.09310	N	0.99999	P	0.52316	0.952	B	0.40741	0.339	T	0.09796	-1.0658	10	0.54805	T	0.06	-0.2123	7.7421	0.28848	0.1314:0.7243:0.0:0.1443	.	756	Q6N069	NAA16_HUMAN	C	756	ENSP00000368716:R756C	ENSP00000368716:R756C	R	+	1	0	NAA16	40845883	0.001000	0.12720	0.000000	0.03702	0.337000	0.28794	0.313000	0.19415	0.299000	0.22661	0.655000	0.94253	CGT		0.363	NAA16-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044672.2	NM_018527		34	56	0	0	0	1	0	34	56					T	41947883	C	T	41947883	3	4	435	1	0	0	0	0	1	0	0	0	10119	536	19	1	2369	1	NAA16	13	41947883	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	179680	41947883	73221995	6036	26961											
KIAA0564	23078	broad.mit.edu	37	chr13	42144707	42144707	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcaggatgtattccatatcGtgacagatttgcatcactca	12	12	8	9	1	2	2	2	1	0	1	4	3	3	3	1	1	2	3	1	1	2	4	rs201130705		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr13:42144707G>A	ENST00000379310.3	-	44	5574	c.5506C>T	c.(5506-5508)Cga>Tga	p.R1836*	MIR5006_ENST00000583027.1_RNA	NM_015058.1	NP_055873.1	A3KMH1	VWA8_HUMAN	von Willebrand factor A domain containing 8	1836	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.					extracellular region (GO:0005576)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)										ATTCCATATCGTGACAGATTT	0.408													G|||	1	0.000199681	0	0	5008	,	,		20602	0		0.001	False		,,,				2504	0					ENST00000379310.3																			0											c.(5506-5508)Cga>Tga		von Willebrand factor A domain containing 8							189	174	179					13																	42144707		1943	4122	6065	SO:0001587	stop_gained	23078							g.chr13:42144707G>A	AB011136	CCDS31963.1, CCDS41881.1	13q14.11	2013-11-18	2012-08-02	2012-08-02	ENSG00000102763	ENSG00000102763			29071	protein-coding gene	gene with protein product			"KIAA0564"	KIAA0564		9628581	Standard	NM_015058		Approved		uc001uyj.3	A3KMH1	OTTHUMG00000016799	ENST00000379310.3:c.5506C>T	13.37:g.42144707G>A	ENSP00000368612:p.Arg1836*						p.R1836*	NM_015058.1	NP_055873.1					44	5574	-								O60310|Q5JTP6|Q5VW08|Q7Z6I9|Q86YC9|Q8N3E4	Nonsense_Mutation	SNP	ENST00000379310.3	37	c.5506C>T	CCDS41881.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	46	12.890196	0.99704	.	.	ENSG00000102763	ENST00000251030;ENST00000379310	.	.	.	5.97	5.13	0.70059	.	0.065819	0.64402	D	0.000007	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.1654	0.72821	0.0672:0.0:0.9328:0.0	.	.	.	.	X	1740;1836	.	ENSP00000251030:R1740X	R	-	1	2	KIAA0564	41042707	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	5.228000	0.65310	1.544000	0.49359	0.655000	0.94253	CGA		0.408	VWA8-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354828.2	NM_015058		4	123	0	0	0	1	0	4	123					A	42144707	G	A	42144707	4	1	435	1	0	0	0	0	0	1	0	0	8185	1153	40	1	219	1	KIAA0564	13	42144707	Nonsense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	196824	42144707	73025171	6037	26962											
KIAA0564	23078	broad.mit.edu	37	chr13	42185773	42185773	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cttgacctcttcgggaactgCatctttctcagcctgagaga	8	12	9	12	1	3	3	1	2	3	1	5	5	3	4	2	1	3	1	2	1	1	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr13:42185773C>T	ENST00000379310.3	-	39	4884	c.4816G>A	c.(4816-4818)Gca>Aca	p.A1606T		NM_015058.1	NP_055873.1	A3KMH1	VWA8_HUMAN	von Willebrand factor A domain containing 8	1606						extracellular region (GO:0005576)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)										TCGGGAACTGCATCTTTCTCA	0.572																																						ENST00000379310.3																			0											c.(4816-4818)Gca>Aca		von Willebrand factor A domain containing 8							121	123	122					13																	42185773		2015	4181	6196	SO:0001583	missense	23078							g.chr13:42185773C>T	AB011136	CCDS31963.1, CCDS41881.1	13q14.11	2013-11-18	2012-08-02	2012-08-02	ENSG00000102763	ENSG00000102763			29071	protein-coding gene	gene with protein product			"KIAA0564"	KIAA0564		9628581	Standard	NM_015058		Approved		uc001uyj.3	A3KMH1	OTTHUMG00000016799	ENST00000379310.3:c.4816G>A	13.37:g.42185773C>T	ENSP00000368612:p.Ala1606Thr						p.A1606T	NM_015058.1	NP_055873.1					39	4884	-								O60310|Q5JTP6|Q5VW08|Q7Z6I9|Q86YC9|Q8N3E4	Missense_Mutation	SNP	ENST00000379310.3	37	c.4816G>A	CCDS41881.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.107936	0.77096	.	.	ENSG00000102763	ENST00000251030;ENST00000379310	T	0.10960	2.82	5.93	5.08	0.68730	.	0.179009	0.48286	D	0.000190	T	0.18800	0.0451	M	0.74258	2.255	0.80722	D	1	D	0.53151	0.958	B	0.44108	0.441	T	0.04796	-1.0926	10	0.32370	T	0.25	.	16.7483	0.85478	0.0:0.8705:0.1295:0.0	.	1606	A3KMH1	K0564_HUMAN	T	1510;1606	ENSP00000368612:A1606T	ENSP00000251030:A1510T	A	-	1	0	KIAA0564	41083773	1.000000	0.71417	0.055000	0.19348	0.683000	0.39861	4.311000	0.59147	1.499000	0.48617	0.563000	0.77884	GCA		0.572	VWA8-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354828.2	NM_015058		29	38	0	0	0	1	0	29	38					T	42185773	C	T	42185773	3	4	435	1	0	0	0	0	1	0	0	0	8185	710	25	3	929	3	KIAA0564	13	42185773	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	41066	42185773	72984105	6038	26963											
KIAA0564	23078	broad.mit.edu	37	chr13	42273290	42273290	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agggtgccaaacgccattggCtgttcttgggaagatatcaa	11	10	12	8	1	2	1	1	0	1	1	2	2	2	2	2	3	2	2	2	3	4	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr13:42273290C>T	ENST00000379310.3	-	29	3549	c.3481G>A	c.(3481-3483)Gcc>Acc	p.A1161T		NM_015058.1	NP_055873.1	A3KMH1	VWA8_HUMAN	von Willebrand factor A domain containing 8	1161						extracellular region (GO:0005576)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)										ACGCCATTGGCTGTTCTTGGG	0.473																																						ENST00000379310.3																			0											c.(3481-3483)Gcc>Acc		von Willebrand factor A domain containing 8							97	98	97					13																	42273290		1900	4111	6011	SO:0001583	missense	23078							g.chr13:42273290C>T	AB011136	CCDS31963.1, CCDS41881.1	13q14.11	2013-11-18	2012-08-02	2012-08-02	ENSG00000102763	ENSG00000102763			29071	protein-coding gene	gene with protein product			"KIAA0564"	KIAA0564		9628581	Standard	NM_015058		Approved		uc001uyj.3	A3KMH1	OTTHUMG00000016799	ENST00000379310.3:c.3481G>A	13.37:g.42273290C>T	ENSP00000368612:p.Ala1161Thr						p.A1161T	NM_015058.1	NP_055873.1					29	3549	-								O60310|Q5JTP6|Q5VW08|Q7Z6I9|Q86YC9|Q8N3E4	Missense_Mutation	SNP	ENST00000379310.3	37	c.3481G>A	CCDS41881.1	.	.	.	.	.	.	.	.	.	.	c	2.221	-0.378341	0.05000	.	.	ENSG00000102763	ENST00000251030;ENST00000379310	T	0.09817	2.94	5.66	0.561	0.17285	.	0.412532	0.26824	N	0.022310	T	0.07818	0.0196	L	0.47716	1.5	0.80722	D	1	B	0.06786	0.001	B	0.04013	0.001	T	0.30179	-0.9987	10	0.14252	T	0.57	.	6.5555	0.22458	0.2193:0.5946:0.0:0.1862	.	1161	A3KMH1	K0564_HUMAN	T	1065;1161	ENSP00000368612:A1161T	ENSP00000251030:A1065T	A	-	1	0	KIAA0564	41171290	0.741000	0.28217	0.145000	0.22337	0.054000	0.15201	1.149000	0.31626	0.116000	0.18110	-0.958000	0.02645	GCC		0.473	VWA8-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354828.2	NM_015058		32	44	0	0	0	1	0	32	44					T	42273290	C	T	42273290	3	4	435	1	0	0	0	0	1	0	0	0	8185	797	28	3	2304	3	KIAA0564	13	42273290	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	87517	42273290	72896588	6039	26964											
KIAA0564	23078	broad.mit.edu	37	chr13	42460072	42460072	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttaccaagatttgaaccgcaGctgctaaactatctaaagga	15	10	7	9	1	1	2	0	1	1	1	1	3	1	3	2	1	5	3	2	1	8	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr13:42460072G>A	ENST00000379310.3	-	8	1027	c.959C>T	c.(958-960)gCt>gTt	p.A320V	VWA8_ENST00000281496.6_Missense_Mutation_p.A320V	NM_015058.1	NP_055873.1	A3KMH1	VWA8_HUMAN	von Willebrand factor A domain containing 8	320						extracellular region (GO:0005576)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)										TTGAACCGCAGCTGCTAAACT	0.358																																						ENST00000379310.3																			0											c.(958-960)gCt>gTt		von Willebrand factor A domain containing 8							45	45	45					13																	42460072		2203	4300	6503	SO:0001583	missense	23078							g.chr13:42460072G>A	AB011136	CCDS31963.1, CCDS41881.1	13q14.11	2013-11-18	2012-08-02	2012-08-02	ENSG00000102763	ENSG00000102763			29071	protein-coding gene	gene with protein product			"KIAA0564"	KIAA0564		9628581	Standard	NM_015058		Approved		uc001uyj.3	A3KMH1	OTTHUMG00000016799	ENST00000379310.3:c.959C>T	13.37:g.42460072G>A	ENSP00000368612:p.Ala320Val					VWA8_ENST00000281496.6_Missense_Mutation_p.A320V	p.A320V	NM_015058.1	NP_055873.1					8	1027	-								O60310|Q5JTP6|Q5VW08|Q7Z6I9|Q86YC9|Q8N3E4	Missense_Mutation	SNP	ENST00000379310.3	37	c.959C>T	CCDS41881.1	.	.	.	.	.	.	.	.	.	.	G	12.60	1.987556	0.35036	.	.	ENSG00000102763	ENST00000251030;ENST00000379310;ENST00000281496;ENST00000398857	T;T	0.11712	2.94;2.75	5.38	1.03	0.20045	.	0.386356	0.23103	N	0.051887	T	0.09423	0.0232	L	0.44542	1.39	0.25763	N	0.984923	B	0.12013	0.005	B	0.14578	0.011	T	0.24693	-1.0153	10	0.34782	T	0.22	.	10.6349	0.45558	0.0:0.1181:0.4974:0.3845	.	320	A3KMH1	K0564_HUMAN	V	224;320;320;320	ENSP00000368612:A320V;ENSP00000281496:A320V	ENSP00000251030:A224V	A	-	2	0	KIAA0564	41358072	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	5.144000	0.64832	0.589000	0.29677	-0.169000	0.13324	GCT		0.358	VWA8-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354828.2	NM_015058		14	23	0	0	0	1	0	14	23					A	42460072	G	A	42460072	3	1	435	1	0	0	0	0	1	0	0	0	8185	971	34	3	4914	3	KIAA0564	13	42460072	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	186782	42460072	72709806	6040	26965											
DGKH	160851	broad.mit.edu	37	chr13	42761257	42761257	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gacaaaaccttggaaaatgcCgttgtagctgatgccgtggc	11	9	12	9	2	0	1	0	1	0	0	0	3	0	2	3	2	4	3	3	2	5	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr13:42761257C>T	ENST00000337343.4	+	14	1632	c.1611C>T	c.(1609-1611)gcC>gcT	p.A537A	DGKH_ENST00000536612.1_Silent_p.A401A|DGKH_ENST00000498255.2_3'UTR|DGKH_ENST00000540693.1_Silent_p.A537A|DGKH_ENST00000261491.5_Silent_p.A537A|DGKH_ENST00000379274.2_Silent_p.A401A|DGKH_ENST00000538674.1_Silent_p.A292A	NM_178009.3	NP_821077.1	Q86XP1	DGKH_HUMAN	diacylglycerol kinase, eta	537					blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein oligomerization (GO:0051259)	cytoplasm (GO:0005737)|endosome (GO:0005768)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)			breast(2)|endometrium(3)|kidney(5)|large_intestine(11)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43		Lung NSC(96;1.02e-05)|Prostate(109;0.0168)|Lung SC(185;0.0262)|Breast(139;0.0709)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;5.88e-05)|GBM - Glioblastoma multiforme(144;0.000935)|BRCA - Breast invasive adenocarcinoma(63;0.109)		TGGAAAATGCCGTTGTAGCTG	0.413																																						ENST00000379274.2																			0				breast(2)|endometrium(3)|kidney(5)|large_intestine(11)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						c.(1201-1203)gcC>gcT		diacylglycerol kinase, eta							122	134	130					13																	42761257		2203	4300	6503	SO:0001819	synonymous_variant	160851				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation|protein oligomerization	endosome|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding	g.chr13:42761257C>T	AB078967	CCDS9381.1, CCDS9382.1, CCDS55898.1	13q13.3	2013-01-10			ENSG00000102780	ENSG00000102780		"Sterile alpha motif (SAM) domain containing", "Pleckstrin homology (PH) domain containing"	2854	protein-coding gene	gene with protein product		604071				8702685	Standard	XM_005266271		Approved	DGKeta	uc001uyl.2	Q86XP1	OTTHUMG00000016804	ENST00000337343.4:c.1611C>T	13.37:g.42761257C>T						DGKH_ENST00000540693.1_Silent_p.A537A|DGKH_ENST00000498255.2_3'UTR|DGKH_ENST00000337343.4_Silent_p.A537A|DGKH_ENST00000538674.1_Silent_p.A292A|DGKH_ENST00000536612.1_Silent_p.A401A|DGKH_ENST00000261491.4_Silent_p.A537A	p.A401A			Q86XP1	DGKH_HUMAN		OV - Ovarian serous cystadenocarcinoma(117;5.88e-05)|GBM - Glioblastoma multiforme(144;0.000935)|BRCA - Breast invasive adenocarcinoma(63;0.109)	14	1632	+		Lung NSC(96;1.02e-05)|Prostate(109;0.0168)|Lung SC(185;0.0262)|Breast(139;0.0709)|Hepatocellular(98;0.114)	537			DAGKc.		A2A2W7|A6NFX7|B4DZ34|Q5VZW0|Q6PI56|Q86XP2|Q8N3N0|Q8N7J9	Silent	SNP	ENST00000337343.4	37	c.1203C>T	CCDS9381.1																																																																																				0.413	DGKH-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044699.2	NM_178009		25	43	0	0	0	1	0	25	43					T	42761257	C	T	42761257	2	4	435	1	0	0	0	0	0	0	0	1	4470	639	23	2		2	DGKH	13	42761257	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	301185	42761257	72408621	6041	26966											
DGKH	160851	broad.mit.edu	37	chr13	42793372	42793372	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ctgctggtaaatagcagctgGaatcgccacatgaagagcga	13	7	12	9	2	0	2	0	1	0	1	1	4	0	3	1	2	4	4	1	2	5	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr13:42793372G>A	ENST00000337343.4	+	27	3241	c.3220G>A	c.(3220-3222)Gaa>Aaa	p.E1074K	DGKH_ENST00000536612.1_Missense_Mutation_p.E938K|DGKH_ENST00000498255.2_3'UTR|DGKH_ENST00000540693.1_Missense_Mutation_p.E1074K|DGKH_ENST00000261491.5_Missense_Mutation_p.E1074K|DGKH_ENST00000379274.2_Missense_Mutation_p.E938K|DGKH_ENST00000538674.1_Missense_Mutation_p.E829K	NM_178009.3	NP_821077.1	Q86XP1	DGKH_HUMAN	diacylglycerol kinase, eta	1074					blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein oligomerization (GO:0051259)	cytoplasm (GO:0005737)|endosome (GO:0005768)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)			breast(2)|endometrium(3)|kidney(5)|large_intestine(11)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43		Lung NSC(96;1.02e-05)|Prostate(109;0.0168)|Lung SC(185;0.0262)|Breast(139;0.0709)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;5.88e-05)|GBM - Glioblastoma multiforme(144;0.000935)|BRCA - Breast invasive adenocarcinoma(63;0.109)		ATAGCAGCTGGAATCGCCACA	0.423																																						ENST00000379274.2																			0				breast(2)|endometrium(3)|kidney(5)|large_intestine(11)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						c.(2812-2814)Gaa>Aaa		diacylglycerol kinase, eta							162	170	167					13																	42793372		2203	4300	6503	SO:0001583	missense	160851				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation|protein oligomerization	endosome|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding	g.chr13:42793372G>A	AB078967	CCDS9381.1, CCDS9382.1, CCDS55898.1	13q13.3	2013-01-10			ENSG00000102780	ENSG00000102780		"Sterile alpha motif (SAM) domain containing", "Pleckstrin homology (PH) domain containing"	2854	protein-coding gene	gene with protein product		604071				8702685	Standard	XM_005266271		Approved	DGKeta	uc001uyl.2	Q86XP1	OTTHUMG00000016804	ENST00000337343.4:c.3220G>A	13.37:g.42793372G>A	ENSP00000337572:p.Glu1074Lys					DGKH_ENST00000540693.1_Missense_Mutation_p.E1074K|DGKH_ENST00000498255.2_3'UTR|DGKH_ENST00000337343.4_Missense_Mutation_p.E1074K|DGKH_ENST00000538674.1_Missense_Mutation_p.E829K|DGKH_ENST00000536612.1_Missense_Mutation_p.E938K|DGKH_ENST00000261491.4_Missense_Mutation_p.E1074K	p.E938K			Q86XP1	DGKH_HUMAN		OV - Ovarian serous cystadenocarcinoma(117;5.88e-05)|GBM - Glioblastoma multiforme(144;0.000935)|BRCA - Breast invasive adenocarcinoma(63;0.109)	27	3241	+		Lung NSC(96;1.02e-05)|Prostate(109;0.0168)|Lung SC(185;0.0262)|Breast(139;0.0709)|Hepatocellular(98;0.114)	1074					A2A2W7|A6NFX7|B4DZ34|Q5VZW0|Q6PI56|Q86XP2|Q8N3N0|Q8N7J9	Missense_Mutation	SNP	ENST00000337343.4	37	c.2812G>A	CCDS9381.1	.	.	.	.	.	.	.	.	.	.	G	16.78	3.217713	0.58560	.	.	ENSG00000102780	ENST00000540693;ENST00000337343;ENST00000261491;ENST00000379274;ENST00000536612;ENST00000538674	T;T;T;T;T;T	0.80123	-1.34;-1.15;-1.34;-1.32;-1.32;1.9	5.48	5.48	0.80851	.	0.048576	0.85682	D	0.000000	T	0.81460	0.4827	L	0.52364	1.645	0.58432	D	0.999997	P;P;P;B	0.36010	0.486;0.486;0.532;0.354	B;B;B;B	0.41412	0.333;0.356;0.356;0.138	T	0.81982	-0.0683	10	0.59425	D	0.04	.	19.365	0.94458	0.0:0.0:1.0:0.0	.	829;938;1074;1074	F5GYP2;Q86XP1-3;Q86XP1-2;Q86XP1	.;.;.;DGKH_HUMAN	K	1074;1074;1074;938;938;829	ENSP00000440823:E1074K;ENSP00000337572:E1074K;ENSP00000261491:E1074K;ENSP00000368576:E938K;ENSP00000445114:E938K;ENSP00000441308:E829K	ENSP00000261491:E1074K	E	+	1	0	DGKH	41691372	1.000000	0.71417	0.951000	0.38953	0.587000	0.36485	9.097000	0.94193	2.558000	0.86282	0.650000	0.86243	GAA		0.423	DGKH-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044699.2	NM_178009		57	97	0	0	0	1	0	57	97					A	42793372	G	A	42793372	3	1	435	1	0	0	0	0	1	0	0	0	4470	1175	41	3	3326	3	DGKH	13	42793372	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	32115	42793372	72376506	6042	26967											
ENOX1	55068	broad.mit.edu	37	chr13	43986126	43986126	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tggctgtagcccaggctgtgGgatctgtcacggacatgttg	6	11	15	9	1	2	0	1	0	1	0	2	2	2	2	1	4	1	4	1	4	1	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr13:43986126G>T	ENST00000261488.6	-	5	711	c.134C>A	c.(133-135)cCc>cAc	p.P45H	ENOX1_ENST00000412891.1_Missense_Mutation_p.P45H	NM_001242863.1|NM_017993.3	NP_001229792.1|NP_060463.2	Q8TC92	ENOX1_HUMAN	ecto-NOX disulfide-thiol exchanger 1	45					rhythmic process (GO:0048511)	extracellular region (GO:0005576)|plasma membrane (GO:0005886)	nucleic acid binding (GO:0003676)|nucleotide binding (GO:0000166)|oxidoreductase activity (GO:0016491)			breast(1)|endometrium(3)|large_intestine(7)|lung(18)|pancreas(2)|prostate(1)|skin(1)|urinary_tract(1)	34		Lung NSC(96;0.000518)|Prostate(109;0.0233)|Hepatocellular(98;0.0268)|Lung SC(185;0.0367)|Breast(139;0.0406)		GBM - Glioblastoma multiforme(144;0.00333)|BRCA - Breast invasive adenocarcinoma(63;0.172)		CCAGGCTGTGGGATCTGTCAC	0.522																																						ENST00000261488.6																			0				breast(1)|endometrium(3)|large_intestine(7)|lung(18)|pancreas(2)|prostate(1)|skin(1)|urinary_tract(1)	34						c.(133-135)cCc>cAc		ecto-NOX disulfide-thiol exchanger 1							136	116	123					13																	43986126		2203	4300	6503	SO:0001583	missense	55068				electron transport chain|rhythmic process|transport	extracellular space|plasma membrane	nucleic acid binding|nucleotide binding|oxidoreductase activity	g.chr13:43986126G>T	EF432052	CCDS9389.1	13q14.11	2013-02-12			ENSG00000120658	ENSG00000120658		"RNA binding motif (RRM) containing"	25474	protein-coding gene	gene with protein product		610914				11360993	Standard	NM_001127615		Approved	FLJ10094, PIG38, CNOX, cCNOX	uc001uza.4	Q8TC92	OTTHUMG00000016818	ENST00000261488.6:c.134C>A	13.37:g.43986126G>T	ENSP00000261488:p.Pro45His					ENOX1_ENST00000412891.1_Missense_Mutation_p.P45H	p.P45H	NM_001242863.1|NM_017993.3	NP_001229792.1|NP_060463.2	Q8TC92	ENOX1_HUMAN		GBM - Glioblastoma multiforme(144;0.00333)|BRCA - Breast invasive adenocarcinoma(63;0.172)	5	711	-		Lung NSC(96;0.000518)|Prostate(109;0.0233)|Hepatocellular(98;0.0268)|Lung SC(185;0.0367)|Breast(139;0.0406)	45					A4GU15|A6NMH9|B7Z5K1|Q2TU81|Q5VT11|Q9NWE0	Missense_Mutation	SNP	ENST00000261488.6	37	c.134C>A	CCDS9389.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.293191	0.80914	.	.	ENSG00000120658	ENST00000261488;ENST00000412891	T;T	0.47869	0.83;0.83	5.62	5.62	0.85841	.	0.117144	0.64402	D	0.000020	T	0.38639	0.1048	N	0.11427	0.14	0.80722	D	1	P	0.40230	0.708	B	0.43701	0.428	T	0.35475	-0.9787	10	0.48119	T	0.1	-15.3165	19.0063	0.92852	0.0:0.0:1.0:0.0	.	45	Q8TC92	ENOX1_HUMAN	H	45	ENSP00000261488:P45H;ENSP00000415054:P45H	ENSP00000261488:P45H	P	-	2	0	ENOX1	42884126	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	7.145000	0.77365	2.809000	0.96659	0.467000	0.42956	CCC		0.522	ENOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044717.2	NM_017993		26	21	1	0	7.38237e-10	1	7.86209e-10	26	21					T	43986126	G	T	43986126	3	4	435	1	0	0	0	0	1	0	0	0	5126	1232	43	5	1849	5	ENOX1	13	43986126	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	1192754	43986126	71183752	6043	26968											
TSC22D1	8848	broad.mit.edu	37	chr13	45148315	45148315	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgtgtagaaaccattggttgCtgttgtccatactgtaactg	9	15	10	7	0	0	1	0	0	0	1	1	1	1	1	2	1	4	5	2	1	4	6			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr13:45148315C>A	ENST00000458659.2	-	1	2386	c.1896G>T	c.(1894-1896)caG>caT	p.Q632H	TSC22D1_ENST00000501704.2_Intron|TSC22D1_ENST00000460842.1_5'Flank	NM_183422.3	NP_904358.2	Q15714	T22D1_HUMAN	TSC22 domain family, member 1	632	Gln-rich.				negative regulation of apoptotic process (GO:0043066)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell proliferation (GO:0008284)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_hematologic(4;8.74e-08)|Acute lymphoblastic leukemia(4;1.78e-07)|Lung NSC(96;2.21e-05)|Breast(139;0.000625)|Prostate(109;0.000947)|Hepatocellular(98;0.0202)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;0.000522)|BRCA - Breast invasive adenocarcinoma(63;0.118)		CCATTGGTTGCTGTTGTCCAT	0.507																																						ENST00000458659.2																			0				breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(1894-1896)caG>caT		TSC22 domain family, member 1							114	112	113					13																	45148315		2203	4300	6503	SO:0001583	missense	8848				transcription from RNA polymerase II promoter	cytoplasm|nucleus	protein binding|sequence-specific DNA binding transcription factor activity	g.chr13:45148315C>A	AJ222700	CCDS9392.1, CCDS31966.1, CCDS58291.1, CCDS73565.1	13q14	2008-02-05	2005-03-01	2005-03-03	ENSG00000102804	ENSG00000102804			16826	protein-coding gene	gene with protein product		607715	"transforming growth factor beta 1 induced transcript 4"	TGFB1I4		8651929, 9022669	Standard	NM_183422		Approved	TSC22, MGC17597	uc001uzn.4	Q15714	OTTHUMG00000016838	ENST00000458659.2:c.1896G>T	13.37:g.45148315C>A	ENSP00000397435:p.Gln632His					TSC22D1_ENST00000501704.2_Intron	p.Q632H	NM_183422.3	NP_904358.2	Q15714	T22D1_HUMAN		GBM - Glioblastoma multiforme(144;0.000522)|BRCA - Breast invasive adenocarcinoma(63;0.118)	1	2386	-		all_hematologic(4;8.74e-08)|Acute lymphoblastic leukemia(4;1.78e-07)|Lung NSC(96;2.21e-05)|Breast(139;0.000625)|Prostate(109;0.000947)|Hepatocellular(98;0.0202)|Lung SC(185;0.0262)	632			Gln-rich.		B3KRL7|B9EGI0|O00666|Q6AHX5|Q6IBU1|Q8NCN1|Q96JS5	Missense_Mutation	SNP	ENST00000458659.2	37	c.1896G>T	CCDS31966.1	.	.	.	.	.	.	.	.	.	.	C	3.504	-0.101292	0.06967	.	.	ENSG00000102804	ENST00000458659	T	0.32272	1.46	4.68	0.976	0.19727	.	0.238614	0.29653	N	0.011551	T	0.14787	0.0357	L	0.27053	0.805	0.30027	N	0.813779	B	0.06786	0.001	B	0.04013	0.001	T	0.09997	-1.0649	10	0.27785	T	0.31	.	0.7954	0.01065	0.1609:0.3426:0.1571:0.3394	.	632	Q15714	T22D1_HUMAN	H	632	ENSP00000397435:Q632H	ENSP00000397435:Q632H	Q	-	3	2	TSC22D1	44046315	0.987000	0.35691	0.038000	0.18304	0.664000	0.39144	0.414000	0.21164	-0.028000	0.13850	0.491000	0.48974	CAG		0.507	TSC22D1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000044743.2	NM_006022		27	45	1	0	1.75199e-13	1	1.90424e-13	27	45					A	45148315	C	A	45148315	3	1	435	1	0	0	0	0	1	0	0	0	16604	796	28	5	1466	5	TSC22D1	13	45148315	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	1162189	45148315	70021563	6044	26969											
TPT1	7178	broad.mit.edu	37	chr13	45913709	45913709	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aaaaggttttactctttctgGtctctgttcttcaagtttcc	7	19	6	9	0	5	0	1	0	4	0	7	0	6	0	1	2	1	3	1	2	4	6			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr13:45913709G>A	ENST00000530705.1	-	4	622	c.322C>T	c.(322-324)Cca>Tca	p.P108S	TPT1_ENST00000379056.1_Missense_Mutation_p.P74S|TPT1-AS1_ENST00000523506.1_RNA|TPT1_ENST00000379055.1_Missense_Mutation_p.P74S|TPT1_ENST00000529421.1_5'UTR|TPT1-AS1_ENST00000520310.1_RNA|TPT1-AS1_ENST00000412946.2_RNA|TPT1_ENST00000309246.5_Missense_Mutation_p.P108S|TPT1-AS1_ENST00000520622.1_RNA|RP11-290D2.6_ENST00000610057.1_RNA|TPT1-AS1_ENST00000517509.1_RNA|SNORA31_ENST00000362607.1_RNA|TPT1_ENST00000379060.4_Missense_Mutation_p.P96S|TPT1-AS1_ENST00000521336.1_RNA|TPT1-AS1_ENST00000520590.1_RNA			P13693	TCTP_HUMAN	tumor protein, translationally-controlled 1	108					calcium ion transport (GO:0006816)|cellular calcium ion homeostasis (GO:0006874)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ectoderm development (GO:2000384)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902230)|regulation of apoptotic process (GO:0042981)|response to virus (GO:0009615)|stem cell maintenance (GO:0019827)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|multivesicular body (GO:0005771)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			lung(1)	1		Lung NSC(96;0.00227)|Prostate(109;0.00578)|Breast(56;0.0192)|Lung SC(185;0.0367)|Hepatocellular(98;0.0556)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000232)		ACTCTTTCTGGTCTCTGTTCT	0.308																																						ENST00000379056.1																			0				lung(1)	1						c.(220-222)Cca>Tca		tumor protein, translationally-controlled 1							102	103	102					13																	45913709		2203	4299	6502	SO:0001583	missense	7178				anti-apoptosis|response to virus	extracellular space|multivesicular body	calcium ion binding|protein binding	g.chr13:45913709G>A	X16064	CCDS9397.1, CCDS66538.1, CCDS73566.1	13q14	2010-08-18			ENSG00000133112	ENSG00000133112			12022	protein-coding gene	gene with protein product		600763				2813067, 10343127	Standard	NM_001286273		Approved	TCTP, fortilin	uc001uzy.1	P13693	OTTHUMG00000016845	ENST00000530705.1:c.322C>T	13.37:g.45913709G>A	ENSP00000431872:p.Pro108Ser					TPT1_ENST00000530705.1_Missense_Mutation_p.P108S|TPT1_ENST00000379055.1_Missense_Mutation_p.P74S|TPT1_ENST00000379060.4_Missense_Mutation_p.P96S|TPT1_ENST00000529421.1_5'UTR|TPT1_ENST00000309246.5_Missense_Mutation_p.P108S	p.P74S			P13693	TCTP_HUMAN	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000232)	3	390	-		Lung NSC(96;0.00227)|Prostate(109;0.00578)|Breast(56;0.0192)|Lung SC(185;0.0367)|Hepatocellular(98;0.0556)	108					B2R7E5|Q6YLS2|Q7Z4J4|Q8TBK7|Q96EE2|Q9UC70	Missense_Mutation	SNP	ENST00000530705.1	37	c.220C>T	CCDS9397.1	.	.	.	.	.	.	.	.	.	.	.	20.6	4.024496	0.75390	.	.	ENSG00000133112	ENST00000379056;ENST00000530705;ENST00000379060;ENST00000379055;ENST00000309246;ENST00000527226	T;T;T;T;T;T	0.44881	0.91;0.91;0.91;0.91;0.91;0.91	4.79	4.79	0.61399	Mss4-like (1);Mss4/translationally controlled tumour-associated TCTP (1);	0.000000	0.85682	D	0.000000	T	0.58637	0.2136	M	0.84433	2.695	0.80722	D	1	P	0.34934	0.476	B	0.43701	0.428	T	0.65529	-0.6146	10	0.59425	D	0.04	.	17.2186	0.86951	0.0:0.0:1.0:0.0	.	108	P13693	TCTP_HUMAN	S	74;108;96;74;108;107	ENSP00000368345:P74S;ENSP00000431872:P108S;ENSP00000368350:P96S;ENSP00000368344:P74S;ENSP00000339051:P108S;ENSP00000433738:P107S	ENSP00000339051:P108S	P	-	1	0	TPT1	44811709	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.177000	0.94849	2.382000	0.81193	0.655000	0.94253	CCA		0.308	TPT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044758.3			25	96	0	0	0	1	0	25	96					A	45913709	G	A	45913709	3	1	435	1	0	0	0	0	1	0	0	0	16426	1261	44	3	208	3	TPT1	13	45913709	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	765394	45913709	69256169	6045	26970											
SIAH3	283514	broad.mit.edu	37	chr13	46357673	46357673	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cacgcactcaagaacagaccGgggcgtggcctcccacttga	10	5	11	15	3	1	3	1	1	0	2	2	3	2	3	3	3	1	1	3	3	2	1	rs370343302		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr13:46357673G>A	ENST00000400405.2	-	2	761	c.655C>T	c.(655-657)Cgg>Tgg	p.R219W		NM_198849.2	NP_942146.2	Q8IW03	SIAH3_HUMAN	siah E3 ubiquitin protein ligase family member 3	219					multicellular organismal development (GO:0007275)|ubiquitin-dependent protein catabolic process (GO:0006511)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			large_intestine(3)|lung(7)|ovary(1)|skin(1)	12						AGAACAGACCGGGGCGTGGCC	0.617																																						ENST00000400405.2																			0				large_intestine(3)|lung(7)|ovary(1)|skin(1)	12						c.(655-657)Cgg>Tgg		siah E3 ubiquitin protein ligase family member 3							50	56	54					13																	46357673		1998	4157	6155	SO:0001583	missense	283514				multicellular organismal development|ubiquitin-dependent protein catabolic process	nucleus	metal ion binding	g.chr13:46357673G>A		CCDS41883.1	13q14.12	2012-02-23	2012-02-23		ENSG00000215475	ENSG00000215475			30553	protein-coding gene	gene with protein product		615609	"seven in absentia homolog 3 (Drosophila)"			12477932	Standard	NM_198849		Approved	FLJ39203	uc001vap.3	Q8IW03	OTTHUMG00000016862	ENST00000400405.2:c.655C>T	13.37:g.46357673G>A	ENSP00000383256:p.Arg219Trp						p.R219W	NM_198849.2	NP_942146.2	Q8IW03	SIAH3_HUMAN			2	761	-			219					B7ZBP0|Q8N8M6	Missense_Mutation	SNP	ENST00000400405.2	37	c.655C>T	CCDS41883.1	.	.	.	.	.	.	.	.	.	.	G	14.39	2.520551	0.44866	.	.	ENSG00000215475	ENST00000400405	T	0.30981	1.51	5.07	-0.623	0.11556	TRAF-type (1);Seven-in-absentia protein, TRAF-like domain (1);TRAF-like (1);	0.000000	0.85682	U	0.000000	T	0.52821	0.1758	M	0.75615	2.305	0.32750	N	0.506461	D	0.89917	1.0	D	0.97110	1.0	T	0.67542	-0.5644	10	0.87932	D	0	-15.8518	15.5687	0.76317	0.0:0.0:0.4102:0.5898	.	219	Q8IW03	SIAH3_HUMAN	W	219	ENSP00000383256:R219W	ENSP00000383256:R219W	R	-	1	2	SIAH3	45255674	0.865000	0.29922	0.357000	0.25798	0.310000	0.27922	1.036000	0.30228	-0.026000	0.13895	0.561000	0.74099	CGG		0.617	SIAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044788.2	NM_198849		9	15	0	0	0	1	0	9	15					A	46357673	G	A	46357673	3	1	435	1	0	0	0	0	1	0	0	0	14301	1115	39	2	158	2	SIAH3	13	46357673	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	443964	46357673	68812205	6046	26971											
C13orf18	80183	broad.mit.edu	37	chr13	46937275	46937275	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ataacaaattcatcaacatcGcatttgcaaatctctttcac	15	13	2	11	1	4	0	3	0	1	0	6	0	4	0	0	0	3	2	0	0	4	4	rs552115280		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr13:46937275G>A	ENST00000429979.1	-	6	1504	c.900C>T	c.(898-900)tgC>tgT	p.C300C	KIAA0226L_ENST00000378784.4_Silent_p.C233C|KIAA0226L_ENST00000378797.2_Silent_p.C300C|KIAA0226L_ENST00000322896.6_Silent_p.C143C|KIAA0226L_ENST00000409879.2_Silent_p.C143C|KIAA0226L_ENST00000389908.3_Silent_p.C300C|KIAA0226L_ENST00000534925.1_Silent_p.C165C|KIAA0226L_ENST00000378781.3_Silent_p.C300C|KIAA0226L_ENST00000378787.3_Silent_p.C300C	NM_025113.2	NP_079389.2	Q9H714	K226L_HUMAN	KIAA0226-like	300										NS(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(7)|pancreas(1)	26						CATCAACATCGCATTTGCAAA	0.423																																						ENST00000429979.1																			0				NS(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(7)|pancreas(1)	26						c.(898-900)tgC>tgT		KIAA0226-like							163	137	145					13																	46937275		2203	4300	6503	SO:0001819	synonymous_variant	80183							g.chr13:46937275G>A	AK025215	CCDS31970.2, CCDS66543.1, CCDS66544.1, CCDS66545.1, CCDS73569.1	13q14.11	2011-08-09	2011-08-09	2011-08-09	ENSG00000102445	ENSG00000102445			20420	protein-coding gene	gene with protein product			"chromosome 13 open reading frame 18"	C13orf18			Standard	NM_001286766		Approved	FLJ21562	uc010acl.3	Q9H714	OTTHUMG00000016868	ENST00000429979.1:c.900C>T	13.37:g.46937275G>A						KIAA0226L_ENST00000389908.3_Silent_p.C300C|KIAA0226L_ENST00000378797.2_Silent_p.C300C|KIAA0226L_ENST00000378781.3_Silent_p.C300C|KIAA0226L_ENST00000409879.2_Silent_p.C143C|KIAA0226L_ENST00000322896.6_Silent_p.C143C|KIAA0226L_ENST00000378787.3_Silent_p.C300C|KIAA0226L_ENST00000534925.1_Silent_p.C165C|KIAA0226L_ENST00000378784.4_Silent_p.C233C	p.C300C	NM_025113.2	NP_079389.2	Q9H714	CM018_HUMAN			6	1504	-			300					A8KAG9|A8XR19|B3KS87|Q5W051|Q5W053|Q6PJ74|Q6PK94|Q86XH7|Q8N5J6	Silent	SNP	ENST00000429979.1	37	c.900C>T	CCDS31970.2																																																																																				0.423	KIAA0226L-204	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044809.2	NM_025113		11	15	0	0	0	1	0	11	15					A	46937275	G	A	46937275	2	1	435	1	0	0	0	0	0	0	0	1	1720	1079	38	1		1	C13orf18	13	46937275	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	579602	46937275	68232603	6047	26972											
C13orf18	80183	broad.mit.edu	37	chr13	46942206	46942206	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cactgtatgaagaagtagaaGacccagactcttgctttatg	13	11	9	8	0	1	5	0	1	1	4	1	5	1	5	1	0	1	3	1	0	6	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr13:46942206G>T	ENST00000429979.1	-	5	1401	c.797C>A	c.(796-798)tCt>tAt	p.S266Y	KIAA0226L_ENST00000378784.4_Missense_Mutation_p.S199Y|KIAA0226L_ENST00000378797.2_Missense_Mutation_p.S266Y|KIAA0226L_ENST00000322896.6_Missense_Mutation_p.S109Y|KIAA0226L_ENST00000409879.2_Missense_Mutation_p.S109Y|KIAA0226L_ENST00000389908.3_Missense_Mutation_p.S266Y|KIAA0226L_ENST00000534925.1_Missense_Mutation_p.S131Y|KIAA0226L_ENST00000378781.3_Missense_Mutation_p.S266Y|KIAA0226L_ENST00000378787.3_Missense_Mutation_p.S266Y	NM_025113.2	NP_079389.2	Q9H714	K226L_HUMAN	KIAA0226-like	266										NS(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(7)|pancreas(1)	26						AGAAGTAGAAGACCCAGACTC	0.408																																						ENST00000429979.1																			0				NS(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(7)|pancreas(1)	26						c.(796-798)tCt>tAt		KIAA0226-like							168	162	164					13																	46942206		2203	4300	6503	SO:0001583	missense	80183							g.chr13:46942206G>T	AK025215	CCDS31970.2, CCDS66543.1, CCDS66544.1, CCDS66545.1, CCDS73569.1	13q14.11	2011-08-09	2011-08-09	2011-08-09	ENSG00000102445	ENSG00000102445			20420	protein-coding gene	gene with protein product			"chromosome 13 open reading frame 18"	C13orf18			Standard	NM_001286766		Approved	FLJ21562	uc010acl.3	Q9H714	OTTHUMG00000016868	ENST00000429979.1:c.797C>A	13.37:g.46942206G>T	ENSP00000396935:p.Ser266Tyr					KIAA0226L_ENST00000389908.3_Missense_Mutation_p.S266Y|KIAA0226L_ENST00000378797.2_Missense_Mutation_p.S266Y|KIAA0226L_ENST00000378781.3_Missense_Mutation_p.S266Y|KIAA0226L_ENST00000409879.2_Missense_Mutation_p.S109Y|KIAA0226L_ENST00000322896.6_Missense_Mutation_p.S109Y|KIAA0226L_ENST00000378787.3_Missense_Mutation_p.S266Y|KIAA0226L_ENST00000534925.1_Missense_Mutation_p.S131Y|KIAA0226L_ENST00000378784.4_Missense_Mutation_p.S199Y	p.S266Y	NM_025113.2	NP_079389.2	Q9H714	CM018_HUMAN			5	1401	-			266					A8KAG9|A8XR19|B3KS87|Q5W051|Q5W053|Q6PJ74|Q6PK94|Q86XH7|Q8N5J6	Missense_Mutation	SNP	ENST00000429979.1	37	c.797C>A	CCDS31970.2	.	.	.	.	.	.	.	.	.	.	G	15.42	2.827424	0.50845	.	.	ENSG00000102445	ENST00000378781;ENST00000429979;ENST00000378797;ENST00000378784;ENST00000389908;ENST00000378787;ENST00000409879;ENST00000322896;ENST00000534925	T;T;T;T;T;T;T	0.57107	0.42;0.7;0.67;0.7;0.7;0.67;0.73	5.63	3.91	0.45181	.	0.275725	0.32161	N	0.006496	T	0.65964	0.2742	M	0.64997	1.995	0.35743	D	0.818866	D;D;D;D;D;D	0.76494	0.976;0.983;0.976;0.976;0.997;0.999	P;P;P;P;D;D	0.71870	0.624;0.862;0.675;0.675;0.955;0.975	T	0.73547	-0.3948	10	0.66056	D	0.02	-2.6413	9.9959	0.41898	0.1556:0.0:0.8444:0.0	.	109;266;109;266;199;266	B7ZBN5;Q9H714-1;B7Z6E4;Q9H714;Q9H714-3;Q9H714-4	.;.;.;K226L_HUMAN;.;.	Y	266;266;266;199;266;266;109;109;131	ENSP00000368057:S266Y;ENSP00000396935:S266Y;ENSP00000368074:S266Y;ENSP00000368061:S199Y;ENSP00000374558:S266Y;ENSP00000368064:S266Y;ENSP00000437501:S131Y	ENSP00000315633:S109Y	S	-	2	0	KIAA0226L	45840207	1.000000	0.71417	0.324000	0.25361	0.372000	0.29890	6.080000	0.71299	0.853000	0.35312	-0.136000	0.14681	TCT		0.408	KIAA0226L-204	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044809.2	NM_025113		58	97	1	0	6.20203e-27	1	6.93455e-27	58	97					T	46942206	G	T	46942206	3	4	435	1	0	0	0	0	1	0	0	0	1720	942	33	5	1235	5	C13orf18	13	46942206	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	4931	46942206	68227672	6048	26973											
LRCH1	23143	broad.mit.edu	37	chr13	47286659	47286659	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cctttccttccaacaccacaGattagagagaactcccctgc	11	9	5	16	0	0	3	0	0	0	3	3	4	3	3	6	0	3	0	6	0	3	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr13:47286659G>A	ENST00000389798.3	+	15	1778		c.e15-1		LRCH1_ENST00000389797.3_Splice_Site|LRCH1_ENST00000311191.6_Splice_Site	NM_015116.2	NP_055931	Q9Y2L9	LRCH1_HUMAN	leucine-rich repeats and calponin homology (CH) domain containing 1											breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26		all_lung(13;5.61e-07)|Lung NSC(96;0.000117)|Breast(56;0.000141)|Prostate(109;0.0029)|Lung SC(185;0.0367)|Myeloproliferative disorder(33;0.0505)|Hepatocellular(98;0.0556)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000123)		CAACACCACAGATTAGAGAGA	0.408																																						ENST00000311191.6																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26						c.e15-1		leucine-rich repeats and calponin homology (CH) domain containing 1							130	138	135					13																	47286659		2203	4300	6503	SO:0001630	splice_region_variant	23143							g.chr13:47286659G>A	AB023233	CCDS31972.1, CCDS53865.1, CCDS53866.1	13q14.11	2008-02-05	2004-05-27	2004-05-28	ENSG00000136141	ENSG00000136141			20309	protein-coding gene	gene with protein product		610368	"calponin homology (CH) domain containing 1"	CHDC1		10231032	Standard	NM_015116		Approved	KIAA1016	uc001vbk.3	Q9Y2L9	OTTHUMG00000016877	ENST00000389798.3:c.1582-1G>A	13.37:g.47286659G>A						LRCH1_ENST00000389798.3_Splice_Site|LRCH1_ENST00000389797.3_Splice_Site		NM_001164213.1	NP_001157685.1	Q9Y2L9	LRCH1_HUMAN	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000123)	15	1810	+		all_lung(13;5.61e-07)|Lung NSC(96;0.000117)|Breast(56;0.000141)|Prostate(109;0.0029)|Lung SC(185;0.0367)|Myeloproliferative disorder(33;0.0505)|Hepatocellular(98;0.0556)						B7ZLL5|F8W6F0|Q17R43|Q2KHR1|Q5TBU9|Q7Z5F6|Q7Z5F7	Splice_Site	SNP	ENST00000389798.3	37		CCDS31972.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.234967	0.79800	.	.	ENSG00000136141	ENST00000311191;ENST00000389798;ENST00000389797	.	.	.	5.88	5.88	0.94601	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.806	0.92037	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	LRCH1	46184660	1.000000	0.71417	0.827000	0.32855	0.413000	0.31143	4.689000	0.61723	2.778000	0.95560	0.655000	0.94253	.		0.408	LRCH1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000044824.2	NM_015116	Intron	43	59	0	0	0	1	0	43	59					A	47286659	G	A	47286659	5	1	435	1	0	0	0	0	0	0	1	0	8932	956	33	3	1639	3	LRCH1	13	47286659	Splice_Site	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	344453	47286659	67883219	6049	26974											
LRCH1	23143	broad.mit.edu	37	chr13	47315857	47315857	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gttgacactctgctggcactCggggagaaagccccaccacc	9	6	11	15	1	1	2	0	1	1	1	2	3	1	2	4	3	2	3	4	3	1	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr13:47315857C>T	ENST00000389798.3	+	19	2258	c.2061C>T	c.(2059-2061)ctC>ctT	p.L687L	LRCH1_ENST00000389797.3_Silent_p.L722L|LRCH1_ENST00000311191.6_Intron	NM_015116.2	NP_055931	Q9Y2L9	LRCH1_HUMAN	leucine-rich repeats and calponin homology (CH) domain containing 1	687	CH. {ECO:0000255|PROSITE- ProRule:PRU00044}.									breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26		all_lung(13;5.61e-07)|Lung NSC(96;0.000117)|Breast(56;0.000141)|Prostate(109;0.0029)|Lung SC(185;0.0367)|Myeloproliferative disorder(33;0.0505)|Hepatocellular(98;0.0556)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000123)		TGCTGGCACTCGGGGAGAAAG	0.512																																						ENST00000389798.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26						c.(2059-2061)ctC>ctT		leucine-rich repeats and calponin homology (CH) domain containing 1							315	322	320					13																	47315857		2203	4300	6503	SO:0001819	synonymous_variant	23143							g.chr13:47315857C>T	AB023233	CCDS31972.1, CCDS53865.1, CCDS53866.1	13q14.11	2008-02-05	2004-05-27	2004-05-28	ENSG00000136141	ENSG00000136141			20309	protein-coding gene	gene with protein product		610368	"calponin homology (CH) domain containing 1"	CHDC1		10231032	Standard	NM_015116		Approved	KIAA1016	uc001vbk.3	Q9Y2L9	OTTHUMG00000016877	ENST00000389798.3:c.2061C>T	13.37:g.47315857C>T						LRCH1_ENST00000389797.3_Silent_p.L722L|LRCH1_ENST00000311191.6_Intron	p.L687L	NM_015116.2	NP_055931.1	Q9Y2L9	LRCH1_HUMAN	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000123)	19	2258	+		all_lung(13;5.61e-07)|Lung NSC(96;0.000117)|Breast(56;0.000141)|Prostate(109;0.0029)|Lung SC(185;0.0367)|Myeloproliferative disorder(33;0.0505)|Hepatocellular(98;0.0556)	687			CH.		B7ZLL5|F8W6F0|Q17R43|Q2KHR1|Q5TBU9|Q7Z5F6|Q7Z5F7	Silent	SNP	ENST00000389798.3	37	c.2061C>T	CCDS31972.1																																																																																				0.512	LRCH1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000044824.2	NM_015116		110	155	0	0	0	1	0	110	155					T	47315857	C	T	47315857	2	4	435	1	0	0	0	0	0	0	0	1	8932	871	31	2		2	LRCH1	13	47315857	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	29198	47315857	67854021	6050	26975											
SUCLA2	8803	broad.mit.edu	37	chr13	48523739	48523739	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgaccagaatagccagtacCtatgaataaagtgttctgat	14	12	8	7	0	1	4	0	3	1	1	1	4	1	4	3	0	2	2	3	0	7	6			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr13:48523739C>T	ENST00000378654.3	-	9	1164		c.e9-1		SUCLA2_ENST00000543413.1_Splice_Site|SUCLA2_ENST00000544100.1_Splice_Site|SUCLA2_ENST00000534875.1_Splice_Site	NM_003850.2	NP_003841.1	Q9P2R7	SUCB1_HUMAN	succinate-CoA ligase, ADP-forming, beta subunit						cellular metabolic process (GO:0044237)|small molecule metabolic process (GO:0044281)|succinate metabolic process (GO:0006105)|succinyl-CoA metabolic process (GO:0006104)|succinyl-CoA pathway (GO:0006781)|tricarboxylic acid cycle (GO:0006099)	extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|succinate-CoA ligase (ADP-forming) activity (GO:0004775)			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(3)|skin(4)	15		all_cancers(8;1.13e-24)|all_epithelial(8;1.78e-13)|all_lung(13;2.85e-06)|Breast(56;0.000141)|Lung NSC(96;0.000226)|all_hematologic(8;0.000885)|Prostate(109;0.00132)|Acute lymphoblastic leukemia(8;0.0167)|Myeloproliferative disorder(33;0.039)|Hepatocellular(98;0.0556)|Lung SC(185;0.102)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(144;2.1e-06)	Succinic acid(DB00139)	TAGCCAGTACCTATGAATAAA	0.313																																						ENST00000378654.3																			0				central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(3)|skin(4)	15						c.e9-1		succinate-CoA ligase, ADP-forming, beta subunit	Succinic acid(DB00139)						59	57	58					13																	48523739		2203	4298	6501	SO:0001630	splice_region_variant	8803				succinyl-CoA pathway|tricarboxylic acid cycle	mitochondrial matrix	ATP binding|metal ion binding|protein binding|succinate-CoA ligase (ADP-forming) activity	g.chr13:48523739C>T	AF058953	CCDS9406.1	13q12.2-q13.3	2010-04-16			ENSG00000136143	ENSG00000136143	6.2.1.5		11448	protein-coding gene	gene with protein product		603921				9765291	Standard	NM_003850		Approved		uc001vbs.3	Q9P2R7	OTTHUMG00000016889	ENST00000378654.3:c.1108-1G>A	13.37:g.48523739C>T						SUCLA2_ENST00000543413.1_Splice_Site|SUCLA2_ENST00000544100.1_Splice_Site|SUCLA2_ENST00000534875.1_Splice_Site		NM_003850.2	NP_003841.1	Q9P2R7	SUCB1_HUMAN		GBM - Glioblastoma multiforme(144;2.1e-06)	9	1164	-		all_cancers(8;1.13e-24)|all_epithelial(8;1.78e-13)|all_lung(13;2.85e-06)|Breast(56;0.000141)|Lung NSC(96;0.000226)|all_hematologic(8;0.000885)|Prostate(109;0.00132)|Acute lymphoblastic leukemia(8;0.0167)|Myeloproliferative disorder(33;0.039)|Hepatocellular(98;0.0556)|Lung SC(185;0.102)|Glioma(44;0.236)						B2RDE7|O95194|Q5T9Q4|Q5T9Q6|Q9NV21|Q9NVP7	Splice_Site	SNP	ENST00000378654.3	37		CCDS9406.1	.	.	.	.	.	.	.	.	.	.	C	13.10	2.137427	0.37728	.	.	ENSG00000136143	ENST00000378654;ENST00000378645;ENST00000544100;ENST00000534875;ENST00000543413;ENST00000541732	.	.	.	4.74	4.74	0.60224	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.0867	0.86612	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SUCLA2	47421740	1.000000	0.71417	1.000000	0.80357	0.405000	0.30901	7.348000	0.79366	2.343000	0.79666	0.491000	0.48974	.		0.313	SUCLA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044852.1		Intron	11	50	0	0	0	1	0	11	50					T	48523739	C	T	48523739	5	4	435	1	0	0	0	0	0	0	1	0	15362	695	24	3	296	3	SUCLA2	13	48523739	Splice_Site	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	1207882	48523739	66646139	6051	26976											
FNDC3A	22862	broad.mit.edu	37	chr13	49772313	49772313	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttcggaaatccttgcctacAgcatagactttggagataaa	13	11	9	8	1	0	2	0	0	0	2	2	4	1	3	2	2	3	2	2	2	5	6			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr13:49772313A>G	ENST00000492622.2	+	22	2991	c.2686A>G	c.(2686-2688)Agc>Ggc	p.S896G	FNDC3A_ENST00000398316.3_Missense_Mutation_p.S840G|FNDC3A_ENST00000541916.1_Missense_Mutation_p.S896G	NM_001079673.1	NP_001073141.1	Q9Y2H6	FND3A_HUMAN	fibronectin type III domain containing 3A	896	Fibronectin type-III 7. {ECO:0000255|PROSITE-ProRule:PRU00316}.				fertilization (GO:0009566)|Sertoli cell development (GO:0060009)|single organismal cell-cell adhesion (GO:0016337)|spermatid development (GO:0007286)	acrosomal vesicle (GO:0001669)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|vesicle membrane (GO:0012506)	poly(A) RNA binding (GO:0044822)			endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|prostate(5)|skin(2)|urinary_tract(1)	41		all_lung(13;7.44e-08)|Lung NSC(96;4.08e-06)|Breast(56;0.000111)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;2.94e-09)		CCTTGCCTACAGCATAGACTT	0.388																																						ENST00000492622.2																			0				endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|prostate(5)|skin(2)|urinary_tract(1)	41						c.(2686-2688)Agc>Ggc		fibronectin type III domain containing 3A							134	128	130					13																	49772313		2203	4300	6503	SO:0001583	missense	22862					Golgi membrane|integral to membrane		g.chr13:49772313A>G	AB023187	CCDS9413.2, CCDS41886.1	13q14.12	2013-02-11	2005-01-20	2005-01-22	ENSG00000102531	ENSG00000102531		"Fibronectin type III domain containing"	20296	protein-coding gene	gene with protein product		615794	"fibronectin type III domain containing 3"	FNDC3			Standard	NM_001079673		Approved	bA203I16.5, KIAA0970	uc001vcm.3	Q9Y2H6	OTTHUMG00000016911	ENST00000492622.2:c.2686A>G	13.37:g.49772313A>G	ENSP00000417257:p.Ser896Gly					FNDC3A_ENST00000541916.1_Missense_Mutation_p.S896G|FNDC3A_ENST00000398316.3_Missense_Mutation_p.S840G	p.S896G	NM_001079673.1	NP_001073141.1	Q9Y2H6	FND3A_HUMAN	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;2.94e-09)	22	2991	+		all_lung(13;7.44e-08)|Lung NSC(96;4.08e-06)|Breast(56;0.000111)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|Lung SC(185;0.187)|all_neural(104;0.19)	896			Fibronectin type-III 7.		B4DYG1|Q5HYC9|Q5JVF8|Q5JVF9|Q6EVH3|Q6EVH4|Q6N020|Q6P9D5|Q6ZME4|Q9H1W1	Missense_Mutation	SNP	ENST00000492622.2	37	c.2686A>G	CCDS41886.1	.	.	.	.	.	.	.	.	.	.	A	12.45	1.942111	0.34283	.	.	ENSG00000102531	ENST00000492622;ENST00000337156;ENST00000541916;ENST00000398316	T;T;T	0.58797	0.31;0.31;0.31	5.74	4.54	0.55810	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.59004	0.2162	M	0.73962	2.25	0.39001	D	0.959356	B;B	0.33904	0.431;0.192	B;B	0.38880	0.284;0.065	T	0.57596	-0.7784	10	0.27082	T	0.32	-13.56	11.2449	0.48991	0.8556:0.0:0.0:0.1443	.	840;896	Q9Y2H6-2;Q9Y2H6	.;FND3A_HUMAN	G	896;832;896;840	ENSP00000417257:S896G;ENSP00000441831:S896G;ENSP00000381362:S840G	ENSP00000338579:S832G	S	+	1	0	FNDC3A	48670314	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.129000	0.57957	0.962000	0.38057	0.528000	0.53228	AGC		0.388	FNDC3A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354845.2	NM_014923		44	51	0	0	0	1	0	44	51					G	49772313	A	G	49772313	3	3	435	1	0	0	0	0	1	0	0	0	5969	188	7	4	2779	4	FNDC3A	13	49772313	Missense_Mutation	SNP	A	TCGA-XK-AAIW-01A-11D-A41K-08	1248574	49772313	65397565	6052	26977											
MLNR	2862	broad.mit.edu	37	chr13	49795147	49795147	+	Missense_Mutation	SNP	C	C	T																															gccgtcggggcccgagaccgCggaggccgcggcgctgttca																										TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr13:49795147C>T	ENST00000218721.1	+	1	674	c.674C>T	c.(673-675)gCg>gTg	p.A225V	MLNR_ENST00000398307.1_Missense_Mutation_p.A225V	NM_001507.1	NP_001498.1	O43193	MTLR_HUMAN	motilin receptor	225					digestion (GO:0007586)|G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|growth hormone-releasing hormone receptor activity (GO:0016520)			endometrium(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)	14		all_lung(13;8.31e-06)|Lung NSC(96;0.000251)|Breast(56;0.0008)|Prostate(109;0.00446)|Hepatocellular(98;0.0556)|Glioma(44;0.236)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;6.1e-09)		CCCGAGACCGCGGAGGCCGCG	0.751																																						ENST00000398307.1																			0				endometrium(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)	14						c.(673-675)gCg>gTg		motilin receptor							11	13	12					13																	49795147		2078	4047	6125	SO:0001583	missense	2862				digestion	integral to plasma membrane	growth hormone-releasing hormone receptor activity	g.chr13:49795147C>T	AF034632	CCDS9414.1	13q14-q21	2012-08-08	2004-05-27	2004-05-28	ENSG00000102539	ENSG00000102539		"GPCR / Class A : Motilin receptors"	4495	protein-coding gene	gene with protein product		602885	"G protein-coupled receptor 38"	GPR38		9441746	Standard	NM_001507		Approved		uc010tgj.2	O43193	OTTHUMG00000016909	ENST00000218721.1:c.674C>T	13.37:g.49795147C>T	ENSP00000218721:p.Ala225Val					MLNR_ENST00000218721.1_Missense_Mutation_p.A225V	p.A225V			O43193	MTLR_HUMAN	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;6.1e-09)	1	674	+		all_lung(13;8.31e-06)|Lung NSC(96;0.000251)|Breast(56;0.0008)|Prostate(109;0.00446)|Hepatocellular(98;0.0556)|Glioma(44;0.236)	225						Missense_Mutation	SNP	ENST00000218721.1	37	c.674C>T	CCDS9414.1	.	.	.	.	.	.	.	.	.	.	c	14.95	2.687861	0.48097	.	.	ENSG00000102539	ENST00000218721;ENST00000398307	T;T	0.69435	-0.4;-0.4	3.72	0.794	0.18638	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.40619	0.1124	L	0.29908	0.895	0.09310	N	1	P	0.38300	0.626	B	0.25987	0.065	T	0.20338	-1.0278	9	0.13108	T	0.6	-1.4869	3.9894	0.09530	0.1866:0.5916:0.0:0.2217	.	225	O43193	MTLR_HUMAN	V	225	ENSP00000218721:A225V;ENSP00000381352:A225V	ENSP00000218721:A225V	A	+	2	0	MLNR	48693148	0.001000	0.12720	0.000000	0.03702	0.023000	0.10783	-0.030000	0.12308	-0.218000	0.10018	0.457000	0.33378	GCG		0.751	MLNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044897.1	NM_001507		12	13	0	0	0	1	0	12	13					T	49795147	C	T	49795147	3	4	435	1	0	0	0	0	1	0	0	0	9632	768	27	1	676	1	MLNR	13	49795147	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	22834	49795147	65374731	6053	26978	125	2									
MLNR	2862	broad.mit.edu	37	chr13	49795157	49795157	+	Silent	SNP	G	G	A																															cccgagaccgcggaggccgcGgcgctgttcagccgcgaatg																										TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr13:49795157G>A	ENST00000218721.1	+	1	684	c.684G>A	c.(682-684)gcG>gcA	p.A228A	MLNR_ENST00000398307.1_Silent_p.A228A	NM_001507.1	NP_001498.1	O43193	MTLR_HUMAN	motilin receptor	228					digestion (GO:0007586)|G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|growth hormone-releasing hormone receptor activity (GO:0016520)			endometrium(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)	14		all_lung(13;8.31e-06)|Lung NSC(96;0.000251)|Breast(56;0.0008)|Prostate(109;0.00446)|Hepatocellular(98;0.0556)|Glioma(44;0.236)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;6.1e-09)		CGGAGGCCGCGGCGCTGTTCA	0.746																																						ENST00000398307.1																			0				endometrium(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)	14						c.(682-684)gcG>gcA		motilin receptor							16	18	17					13																	49795157		2131	4177	6308	SO:0001819	synonymous_variant	2862				digestion	integral to plasma membrane	growth hormone-releasing hormone receptor activity	g.chr13:49795157G>A	AF034632	CCDS9414.1	13q14-q21	2012-08-08	2004-05-27	2004-05-28	ENSG00000102539	ENSG00000102539		"GPCR / Class A : Motilin receptors"	4495	protein-coding gene	gene with protein product		602885	"G protein-coupled receptor 38"	GPR38		9441746	Standard	NM_001507		Approved		uc010tgj.2	O43193	OTTHUMG00000016909	ENST00000218721.1:c.684G>A	13.37:g.49795157G>A						MLNR_ENST00000218721.1_Silent_p.A228A	p.A228A			O43193	MTLR_HUMAN	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;6.1e-09)	1	684	+		all_lung(13;8.31e-06)|Lung NSC(96;0.000251)|Breast(56;0.0008)|Prostate(109;0.00446)|Hepatocellular(98;0.0556)|Glioma(44;0.236)	228						Silent	SNP	ENST00000218721.1	37	c.684G>A	CCDS9414.1																																																																																				0.746	MLNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044897.1	NM_001507		6	29	0	0	0	1	0	6	29					A	49795157	G	A	49795157	2	1	435	1	0	0	0	0	0	0	0	1	9632	1103	39	2		2	MLNR	13	49795157	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	10	49795157	65374721	6054	26979	125	2									
CAB39L	81617	broad.mit.edu	37	chr13	49956951	49956951	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttaccttgtctgtctttttGtcttgcttttccaaaatggc	5	20	6	10	0	3	0	0	0	3	0	4	0	4	0	2	1	2	1	2	1	3	7			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr13:49956951G>A	ENST00000355854.4	-	2	593	c.96C>T	c.(94-96)gaC>gaT	p.D32D	CAB39L_ENST00000410043.1_Silent_p.D32D|CAB39L_ENST00000476943.1_5'UTR|CAB39L_ENST00000347776.5_Silent_p.D32D|CAB39L_ENST00000409308.1_Silent_p.D32D	NM_030925.2	NP_112187.2	Q9H9S4	CB39L_HUMAN	calcium binding protein 39-like	32					cell cycle arrest (GO:0007050)|insulin receptor signaling pathway (GO:0008286)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)				breast(1)|endometrium(2)|large_intestine(4)|lung(3)|pancreas(1)|stomach(1)	12		Lung NSC(96;2.11e-05)|Breast(56;0.00017)|Prostate(109;0.00314)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;3.66e-09)|COAD - Colon adenocarcinoma(199;0.226)		CTGTCTTTTTGTCTTGCTTTT	0.318																																						ENST00000355854.4																			0				breast(1)|endometrium(2)|large_intestine(4)|lung(3)|pancreas(1)|stomach(1)	12						c.(94-96)gaC>gaT		calcium binding protein 39-like							165	152	156					13																	49956951		1855	4098	5953	SO:0001819	synonymous_variant	81617				cell cycle arrest|insulin receptor signaling pathway|regulation of fatty acid oxidation	cytosol	protein binding	g.chr13:49956951G>A	AK022639	CCDS9416.2	13q14.11	2008-02-05			ENSG00000102547	ENSG00000102547			20290	protein-coding gene	gene with protein product		612175					Standard	NM_030925		Approved	bA103J18.3, FLJ12577, MO2L	uc001vcw.3	Q9H9S4	OTTHUMG00000016914	ENST00000355854.4:c.96C>T	13.37:g.49956951G>A						CAB39L_ENST00000409308.1_Silent_p.D32D|CAB39L_ENST00000476943.1_5'UTR|CAB39L_ENST00000410043.1_Silent_p.D32D|CAB39L_ENST00000347776.5_Silent_p.D32D	p.D32D	NM_030925.2	NP_112187.2	Q9H9S4	CB39L_HUMAN	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;3.66e-09)|COAD - Colon adenocarcinoma(199;0.226)	2	593	-		Lung NSC(96;2.11e-05)|Breast(56;0.00017)|Prostate(109;0.00314)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)	32					Q5TAW6|Q6WG71|Q96FG1|Q9BZ33	Silent	SNP	ENST00000355854.4	37	c.96C>T	CCDS9416.2																																																																																				0.318	CAB39L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044908.3	NM_030925		12	24	0	0	0	1	0	12	24					A	49956951	G	A	49956951	2	1	435	1	0	0	0	0	0	0	0	1	2526	1368	48	3		3	CAB39L	13	49956951	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	161794	49956951	65212927	6055	26980											
ARL11	115761	broad.mit.edu	37	chr13	50204664	50204664	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gactcggcgggcaagaccacGctcctttacaagctgaaggg	10	6	13	12	3	0	2	0	1	0	1	2	3	1	2	2	3	2	3	2	3	4	2	rs557546186		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr13:50204664G>A	ENST00000282026.1	+	2	416	c.81G>A	c.(79-81)acG>acA	p.T27T	ARL11_ENST00000490932.1_Intron	NM_138450.5	NP_612459.1	Q969Q4	ARL11_HUMAN	ADP-ribosylation factor-like 11	27					hematopoietic progenitor cell differentiation (GO:0002244)|small GTPase mediated signal transduction (GO:0007264)	intracellular (GO:0005622)	GTP binding (GO:0005525)			kidney(1)|large_intestine(4)|ovary(1)	6		Lung NSC(96;2.1e-05)|Breast(56;0.00015)|Prostate(109;0.00174)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.119)|Kidney(9;0.169)	GBM - Glioblastoma multiforme(99;1.67e-09)		GCAAGACCACGCTCCTTTACA	0.592													G|||	1	0.000199681	0	0	5008	,	,		16133	0		0	False		,,,				2504	0.001					ENST00000282026.1																			0				kidney(1)|large_intestine(4)|ovary(1)	6						c.(79-81)acG>acA		ADP-ribosylation factor-like 11							64	66	65					13																	50204664		2203	4300	6503	SO:0001819	synonymous_variant	115761				small GTPase mediated signal transduction	intracellular	GTP binding|protein binding	g.chr13:50204664G>A	AF441378	CCDS9419.1	13q14.12	2014-05-09			ENSG00000152213	ENSG00000152213		"ADP-ribosylation factors-like", "ADP-ribosylation factors"	24046	protein-coding gene	gene with protein product		609351				12477932	Standard	NM_138450		Approved	ARLTS1, FLJ33930	uc001vdf.2	Q969Q4	OTTHUMG00000016919	ENST00000282026.1:c.81G>A	13.37:g.50204664G>A						ARL11_ENST00000490932.1_Intron	p.T27T	NM_138450.5	NP_612459.1	Q969Q4	ARL11_HUMAN	KIRC - Kidney renal clear cell carcinoma(9;0.119)|Kidney(9;0.169)	GBM - Glioblastoma multiforme(99;1.67e-09)	2	416	+		Lung NSC(96;2.1e-05)|Breast(56;0.00015)|Prostate(109;0.00174)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)	27						Silent	SNP	ENST00000282026.1	37	c.81G>A	CCDS9419.1																																																																																				0.592	ARL11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044929.2	NM_138450		24	25	0	0	0	1	0	24	25					A	50204664	G	A	50204664	2	1	435	1	0	0	0	0	0	0	0	1	927	1074	38	1		1	ARL11	13	50204664	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	247713	50204664	64965214	6056	26981											
FAM124A	220108	broad.mit.edu	37	chr13	51855375	51855375	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gccccggggataacgacatgGaggaattctacatctgaatg	12	8	12	9	2	2	1	0	1	2	0	2	5	2	4	2	4	2	0	2	4	4	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr13:51855375G>A	ENST00000322475.8	+	4	1759	c.1624G>A	c.(1624-1626)Gag>Aag	p.E542K	FAM124A_ENST00000280057.6_Missense_Mutation_p.E578K	NM_001242312.1	NP_001229241.1	Q86V42	F124A_HUMAN	family with sequence similarity 124A	542										breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|skin(1)	26		Acute lymphoblastic leukemia(7;0.000334)|Breast(56;0.00156)|Prostate(109;0.00538)|Lung NSC(96;0.0216)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;4.25e-07)		TAACGACATGGAGGAATTCTA	0.582																																						ENST00000322475.8																			0				breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|skin(1)	26						c.(1624-1626)Gag>Aag		family with sequence similarity 124A							40	41	41					13																	51855375		2203	4300	6503	SO:0001583	missense	220108							g.chr13:51855375G>A	AK096364	CCDS9427.1, CCDS55900.1	13q14.3	2006-08-11			ENSG00000150510	ENSG00000150510			26413	protein-coding gene	gene with protein product						12975309	Standard	NM_145019		Approved	FLJ30707	uc001vff.2	Q86V42	OTTHUMG00000016942	ENST00000322475.8:c.1624G>A	13.37:g.51855375G>A	ENSP00000324625:p.Glu542Lys					FAM124A_ENST00000280057.6_Missense_Mutation_p.E578K	p.E542K	NM_001242312.1	NP_001229241.1	Q86V42	F124A_HUMAN		GBM - Glioblastoma multiforme(99;4.25e-07)	4	1759	+		Acute lymphoblastic leukemia(7;0.000334)|Breast(56;0.00156)|Prostate(109;0.00538)|Lung NSC(96;0.0216)|Hepatocellular(98;0.152)|Glioma(44;0.236)	542					A2A324|Q8N8P9|Q8NE66|Q96NJ9	Missense_Mutation	SNP	ENST00000322475.8	37	c.1624G>A	CCDS55900.1	.	.	.	.	.	.	.	.	.	.	G	29.1	4.981652	0.93044	.	.	ENSG00000150510	ENST00000322475;ENST00000280057	T;T	0.55760	0.5;0.51	5.44	5.44	0.79542	.	0.000000	0.64402	D	0.000015	T	0.70378	0.3217	L	0.56769	1.78	0.39702	D	0.971192	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.73646	-0.3917	10	0.72032	D	0.01	-13.0513	17.8334	0.88689	0.0:0.0:1.0:0.0	.	542;578	Q86V42;Q86V42-2	F124A_HUMAN;.	K	542;578	ENSP00000324625:E542K;ENSP00000280057:E578K	ENSP00000280057:E578K	E	+	1	0	FAM124A	50753376	1.000000	0.71417	0.983000	0.44433	0.905000	0.53344	6.148000	0.71788	2.543000	0.85770	0.650000	0.86243	GAG		0.582	FAM124A-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045019.3	NM_145019		10	15	0	0	0	1	0	10	15					A	51855375	G	A	51855375	3	1	435	1	0	0	0	0	1	0	0	0	5425	1175	41	3	1750	3	FAM124A	13	51855375	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	1650711	51855375	63314503	6057	26982											
ATP7B	540	broad.mit.edu	37	chr13	52539084	52539084	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gggctttgctggtggcaaggGcaacggaggcataagtgatg	9	8	18	6	1	0	1	0	1	0	0	0	2	0	2	0	6	2	5	0	6	3	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr13:52539084G>A	ENST00000242839.4	-	5	1949	c.1793C>T	c.(1792-1794)gCc>gTc	p.A598V	ATP7B_ENST00000482841.1_5'UTR|ATP7B_ENST00000344297.5_Missense_Mutation_p.A598V|ATP7B_ENST00000448424.2_Missense_Mutation_p.A598V|ATP7B_ENST00000418097.2_Missense_Mutation_p.A598V|ATP7B_ENST00000400370.3_Intron|ATP7B_ENST00000542656.1_Intron|ATP7B_ENST00000400366.3_Missense_Mutation_p.A487V	NM_000053.3	NP_000044.2	P35670	ATP7B_HUMAN	ATPase, Cu++ transporting, beta polypeptide	598	HMA 6. {ECO:0000255|PROSITE- ProRule:PRU00280}.				cellular copper ion homeostasis (GO:0006878)|cellular zinc ion homeostasis (GO:0006882)|copper ion import (GO:0015677)|copper ion transport (GO:0006825)|intracellular copper ion transport (GO:0015680)|ion transmembrane transport (GO:0034220)|lactation (GO:0007595)|response to copper ion (GO:0046688)|sequestering of calcium ion (GO:0051208)|transmembrane transport (GO:0055085)	Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|membrane (GO:0016020)|mitochondrion (GO:0005739)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|copper ion binding (GO:0005507)|copper-exporting ATPase activity (GO:0004008)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(23)|ovary(1)|prostate(3)|skin(4)|stomach(2)	55		Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;5.25e-08)	Carboplatin(DB00958)|Cisplatin(DB00515)|Oxaliplatin(DB00526)	GGTGGCAAGGGCAACGGAGGC	0.448									Wilson disease																													ENST00000242839.4																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(23)|ovary(1)|prostate(3)|skin(4)|stomach(2)	55						c.(1792-1794)gCc>gTc		ATPase, Cu++ transporting, beta polypeptide							103	106	105					13																	52539084		2011	4190	6201	SO:0001583	missense	540	Wilson disease	Familial Cancer Database		ATP biosynthetic process|cellular copper ion homeostasis|copper ion import|response to copper ion|sequestering of calcium ion	Golgi membrane|integral to plasma membrane|late endosome|mitochondrion	ATP binding|copper ion binding|copper-exporting ATPase activity|protein binding	g.chr13:52539084G>A	U11700	CCDS41892.1, CCDS45049.1, CCDS58293.1	13q14.3	2012-10-22	2005-11-29		ENSG00000123191	ENSG00000123191	3.6.3.4	"ATPases / P-type"	870	protein-coding gene	gene with protein product	"Wilson disease", "copper pump 2", "copper-transporting ATPase 2"	606882	"ATPase, Cu++ transporting, beta polypeptide (Wilson disease)"	WND		8298641, 8298639	Standard	NM_000053		Approved		uc001vfw.2	P35670	OTTHUMG00000017406	ENST00000242839.4:c.1793C>T	13.37:g.52539084G>A	ENSP00000242839:p.Ala598Val					ATP7B_ENST00000482841.1_5'UTR|ATP7B_ENST00000418097.2_Missense_Mutation_p.A598V|ATP7B_ENST00000448424.2_Missense_Mutation_p.A598V|ATP7B_ENST00000542656.1_Intron|ATP7B_ENST00000344297.5_Missense_Mutation_p.A598V|ATP7B_ENST00000400370.3_Intron|ATP7B_ENST00000400366.3_Missense_Mutation_p.A487V	p.A598V	NM_000053.3	NP_000044.2	P35670	ATP7B_HUMAN		GBM - Glioblastoma multiforme(99;5.25e-08)	5	1949	-		Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19)	598			HMA 6.		Q16318|Q16319|Q4U3V3|Q59FJ9|Q5T7X7	Missense_Mutation	SNP	ENST00000242839.4	37	c.1793C>T	CCDS41892.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.383466	0.82792	.	.	ENSG00000123191	ENST00000242839;ENST00000400366;ENST00000344297;ENST00000448424;ENST00000418097	D;D;D;D;D	0.85773	-2.03;-2.03;-2.03;-2.03;-2.03	5.95	5.95	0.96441	Heavy metal-associated domain, HMA (3);Heavy metal-associated domain, copper ion-binding (1);Heavy-metal-associated, conserved site (1);	0.090319	0.85682	D	0.000000	D	0.88618	0.6485	M	0.81942	2.565	0.80722	D	1	P;D;D;D;D;D	0.76494	0.937;0.967;0.979;0.999;0.979;0.967	B;B;B;P;B;B	0.49276	0.186;0.242;0.368;0.605;0.397;0.214	D	0.89738	0.3931	10	0.66056	D	0.02	-30.6793	14.5295	0.67915	0.0694:0.0:0.9306:0.0	.	598;598;598;487;598;598	E7ET55;B7ZLR4;F5H748;P35670-3;P35670-2;P35670	.;.;.;.;.;ATP7B_HUMAN	V	598;487;598;598;598	ENSP00000242839:A598V;ENSP00000383217:A487V;ENSP00000342559:A598V;ENSP00000416738:A598V;ENSP00000393343:A598V	ENSP00000242839:A598V	A	-	2	0	ATP7B	51437085	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	6.297000	0.72757	2.824000	0.97209	0.655000	0.94253	GCC		0.448	ATP7B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045981.1	NM_000053		36	58	0	0	0	1	0	36	58					A	52539084	G	A	52539084	3	1	435	1	0	0	0	0	1	0	0	0	1191	1203	42	3	2672	3	ATP7B	13	52539084	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	683709	52539084	62630794	6058	26983											
ATP7B	540	broad.mit.edu	37	chr13	52548294	52548294	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gtggtactgcatgtgccctgGacctggtttctcggtgggga	4	12	16	9	1	1	0	0	0	1	0	2	2	1	2	2	6	3	3	2	6	1	2	rs371971772		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr13:52548294G>A	ENST00000242839.4	-	2	1218	c.1062C>T	c.(1060-1062)gtC>gtT	p.V354V	ATP7B_ENST00000482841.1_5'UTR|ATP7B_ENST00000344297.5_Silent_p.V354V|ATP7B_ENST00000448424.2_Silent_p.V354V|ATP7B_ENST00000418097.2_Silent_p.V354V|ATP7B_ENST00000400370.3_Silent_p.V354V|ATP7B_ENST00000542656.1_Silent_p.V322V|ATP7B_ENST00000400366.3_Intron	NM_000053.3	NP_000044.2	P35670	ATP7B_HUMAN	ATPase, Cu++ transporting, beta polypeptide	354					cellular copper ion homeostasis (GO:0006878)|cellular zinc ion homeostasis (GO:0006882)|copper ion import (GO:0015677)|copper ion transport (GO:0006825)|intracellular copper ion transport (GO:0015680)|ion transmembrane transport (GO:0034220)|lactation (GO:0007595)|response to copper ion (GO:0046688)|sequestering of calcium ion (GO:0051208)|transmembrane transport (GO:0055085)	Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|membrane (GO:0016020)|mitochondrion (GO:0005739)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|copper ion binding (GO:0005507)|copper-exporting ATPase activity (GO:0004008)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(23)|ovary(1)|prostate(3)|skin(4)|stomach(2)	55		Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;5.25e-08)	Carboplatin(DB00958)|Cisplatin(DB00515)|Oxaliplatin(DB00526)	ATGTGCCCTGGACCTGGTTTC	0.537									Wilson disease																													ENST00000242839.4																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(23)|ovary(1)|prostate(3)|skin(4)|stomach(2)	55						c.(1060-1062)gtC>gtT		ATPase, Cu++ transporting, beta polypeptide							94	92	93					13																	52548294		1983	4160	6143	SO:0001819	synonymous_variant	540	Wilson disease	Familial Cancer Database		ATP biosynthetic process|cellular copper ion homeostasis|copper ion import|response to copper ion|sequestering of calcium ion	Golgi membrane|integral to plasma membrane|late endosome|mitochondrion	ATP binding|copper ion binding|copper-exporting ATPase activity|protein binding	g.chr13:52548294G>A	U11700	CCDS41892.1, CCDS45049.1, CCDS58293.1	13q14.3	2012-10-22	2005-11-29		ENSG00000123191	ENSG00000123191	3.6.3.4	"ATPases / P-type"	870	protein-coding gene	gene with protein product	"Wilson disease", "copper pump 2", "copper-transporting ATPase 2"	606882	"ATPase, Cu++ transporting, beta polypeptide (Wilson disease)"	WND		8298641, 8298639	Standard	NM_000053		Approved		uc001vfw.2	P35670	OTTHUMG00000017406	ENST00000242839.4:c.1062C>T	13.37:g.52548294G>A						ATP7B_ENST00000482841.1_5'UTR|ATP7B_ENST00000418097.2_Silent_p.V354V|ATP7B_ENST00000448424.2_Silent_p.V354V|ATP7B_ENST00000542656.1_Silent_p.V322V|ATP7B_ENST00000344297.5_Silent_p.V354V|ATP7B_ENST00000400370.3_Silent_p.V354V|ATP7B_ENST00000400366.3_Intron	p.V354V	NM_000053.3	NP_000044.2	P35670	ATP7B_HUMAN		GBM - Glioblastoma multiforme(99;5.25e-08)	2	1218	-		Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19)	354					Q16318|Q16319|Q4U3V3|Q59FJ9|Q5T7X7	Silent	SNP	ENST00000242839.4	37	c.1062C>T	CCDS41892.1																																																																																				0.537	ATP7B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045981.1	NM_000053		8	56	0	0	0	1	0	8	56					A	52548294	G	A	52548294	2	1	435	1	0	0	0	0	0	0	0	1	1191	1161	41	3		3	ATP7B	13	52548294	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	9210	52548294	62621584	6059	26984											
THSD1	55901	broad.mit.edu	37	chr13	52971414	52971414	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcctttgcagaaaaatggCttctgcttgaaatgccaaag	12	11	8	10	0	1	2	0	1	1	1	2	2	2	2	3	1	3	3	3	1	4	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr13:52971414C>T	ENST00000258613.4	-	3	1152	c.974G>A	c.(973-975)aGc>aAc	p.S325N	RNY4P24_ENST00000362735.1_RNA|THSD1_ENST00000349258.4_Missense_Mutation_p.S325N|THSD1_ENST00000544466.1_Intron	NM_018676.3	NP_061146.1	Q9NS62	THSD1_HUMAN	thrombospondin, type I, domain containing 1	325					hematopoietic progenitor cell differentiation (GO:0002244)	cell periphery (GO:0071944)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)				breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		Breast(56;0.000207)|Lung NSC(96;0.00145)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.8e-08)		AGAAAAATGGCTTCTGCTTGA	0.368																																						ENST00000349258.4																			0				breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						c.(973-975)aGc>aAc		thrombospondin, type I, domain containing 1							56	58	58					13																	52971414		2203	4300	6503	SO:0001583	missense	55901					extracellular region|integral to membrane|intracellular membrane-bounded organelle		g.chr13:52971414C>T	AK096289	CCDS9432.1, CCDS9433.1	13q14.13	2010-04-20	2004-03-11		ENSG00000136114	ENSG00000136114			17754	protein-coding gene	gene with protein product			"thrombospondin, type I, domain 1"				Standard	NM_018676		Approved	TMTSP	uc001vgo.3	Q9NS62	OTTHUMG00000016963	ENST00000258613.4:c.974G>A	13.37:g.52971414C>T	ENSP00000258613:p.Ser325Asn					THSD1_ENST00000258613.4_Missense_Mutation_p.S325N|THSD1_ENST00000544466.1_Intron	p.S325N	NM_199263.2	NP_954872.1	Q9NS62	THSD1_HUMAN		GBM - Glioblastoma multiforme(99;2.8e-08)	3	1518	-		Breast(56;0.000207)|Lung NSC(96;0.00145)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)	325					A2A3J3|B2RCF5|Q6P3U1|Q6UXZ2	Missense_Mutation	SNP	ENST00000258613.4	37	c.974G>A	CCDS9432.1	.	.	.	.	.	.	.	.	.	.	C	17.35	3.367114	0.61513	.	.	ENSG00000136114	ENST00000349258;ENST00000258613;ENST00000378095	T;T	0.19105	2.17;2.29	5.57	4.73	0.59995	.	0.043699	0.85682	D	0.000000	T	0.19485	0.0468	L	0.43646	1.37	0.80722	D	1	P;P	0.46142	0.873;0.77	B;B	0.43445	0.42;0.193	T	0.01869	-1.1257	10	0.38643	T	0.18	-13.6015	8.5411	0.33393	0.1515:0.7716:0.0:0.0769	.	325;325	Q9NS62-2;Q9NS62	.;THSD1_HUMAN	N	325	ENSP00000340650:S325N;ENSP00000258613:S325N	ENSP00000258613:S325N	S	-	2	0	THSD1	51869415	1.000000	0.71417	0.632000	0.29296	0.972000	0.66771	3.641000	0.54360	1.359000	0.45940	0.561000	0.74099	AGC		0.368	THSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045058.3			10	43	0	0	0	1	0	10	43					T	52971414	C	T	52971414	3	4	435	1	0	0	0	0	1	0	0	0	15874	797	28	3	1596	3	THSD1	13	52971414	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	423120	52971414	62198464	6060	26985											
PCDH8	5100	broad.mit.edu	37	chr13	53420780	53420780	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtcgttctggtccagcacgcGcacttgcactagggcgctgc	5	9	13	14	4	1	0	0	0	1	0	3	0	2	0	1	2	3	5	1	2	1	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr13:53420780G>A	ENST00000377942.3	-	1	1995	c.1792C>T	c.(1792-1794)Cgc>Tgc	p.R598C	PCDH8_ENST00000338862.4_Missense_Mutation_p.R598C	NM_002590.3	NP_002581.2	O95206	PCDH8_HUMAN	protocadherin 8	598	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell-cell signaling (GO:0007267)|homophilic cell adhesion (GO:0007156)|morphogenesis of embryonic epithelium (GO:0016331)|somitogenesis (GO:0001756)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cell projection (GO:0042995)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(23)|ovary(1)|skin(1)|urinary_tract(1)	36		Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.19e-08)		TCCAGCACGCGCACTTGCACT	0.657																																					GBM(36;25 841 9273 49207)	ENST00000377942.3																			0				breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(23)|ovary(1)|skin(1)|urinary_tract(1)	36						c.(1792-1794)Cgc>Tgc		protocadherin 8							15	16	16					13																	53420780		2191	4292	6483	SO:0001583	missense	5100				cell-cell signaling|homophilic cell adhesion	cell junction|dendrite|integral to plasma membrane|postsynaptic membrane|presynaptic membrane	calcium ion binding	g.chr13:53420780G>A	AF061573	CCDS9438.1, CCDS9439.1	13q21.1	2010-02-22			ENSG00000136099	ENSG00000136099		"Cadherins / Protocadherins : Non-clustered"	8660	protein-coding gene	gene with protein product		603580				9787079, 9315676	Standard	NM_002590		Approved	PAPC, ARCADLIN	uc001vhi.3	O95206	OTTHUMG00000016979	ENST00000377942.3:c.1792C>T	13.37:g.53420780G>A	ENSP00000367177:p.Arg598Cys					PCDH8_ENST00000338862.4_Missense_Mutation_p.R598C	p.R598C	NM_002590.3	NP_002581.2	O95206	PCDH8_HUMAN		GBM - Glioblastoma multiforme(99;2.19e-08)	1	1995	-		Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)	598			Cadherin 5.		B4DMV7|Q5TAN1|Q5TAN2|Q8IYE9|Q96SF1	Missense_Mutation	SNP	ENST00000377942.3	37	c.1792C>T	CCDS9438.1	.	.	.	.	.	.	.	.	.	.	G	12.97	2.096714	0.36952	.	.	ENSG00000136099	ENST00000377942;ENST00000338862;ENST00000448969	T;T	0.52754	0.65;0.65	3.9	2.1	0.27182	Cadherin (5);Cadherin conserved site (1);Cadherin-like (1);	0.000000	0.38897	N	0.001522	T	0.58609	0.2134	L	0.46947	1.48	0.47476	D	0.999431	D;D	0.89917	1.0;1.0	D;D	0.75020	0.954;0.985	T	0.58725	-0.7586	10	0.72032	D	0.01	.	12.2791	0.54753	0.0:0.0:0.4233:0.5767	.	598;598	O95206-2;O95206	.;PCDH8_HUMAN	C	598;598;441	ENSP00000367177:R598C;ENSP00000341350:R598C	ENSP00000341350:R598C	R	-	1	0	PCDH8	52318781	0.889000	0.30405	0.989000	0.46669	0.883000	0.51084	1.021000	0.30040	0.293000	0.22520	-0.428000	0.05917	CGC		0.657	PCDH8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045108.2	NM_002590		9	9	0	0	0	1	0	9	9					A	53420780	G	A	53420780	3	1	435	1	0	0	0	0	1	0	0	0	11517	1087	38	1	1432	1	PCDH8	13	53420780	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	449366	53420780	61749098	6061	26986											
PCDH9	5101	broad.mit.edu	37	chr13	67800963	67800963	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cagttactgtaaaaatgaatCgttcttgttcttctctgtca	10	17	6	8	1	4	1	1	1	3	0	6	1	4	1	0	0	1	4	0	0	5	6			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr13:67800963C>T	ENST00000377865.2	-	1	1744	c.1610G>A	c.(1609-1611)cGa>cAa	p.R537Q	PCDH9_ENST00000456367.1_Missense_Mutation_p.R537Q|PCDH9_ENST00000377861.3_Missense_Mutation_p.R537Q|PCDH9_ENST00000544246.1_Missense_Mutation_p.R537Q|PCDH9_ENST00000328454.5_Missense_Mutation_p.R537Q			Q9HC56	PCDH9_HUMAN	protocadherin 9	537	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				forebrain development (GO:0030900)|homophilic cell adhesion (GO:0007156)	cell-cell contact zone (GO:0044291)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		AAAAATGAATCGTTCTTGTTC	0.463																																						ENST00000544246.1																			0				breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103						c.(1609-1611)cGa>cAa		protocadherin 9							87	89	88					13																	67800963		2203	4300	6503	SO:0001583	missense	5101				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr13:67800963C>T	AF169692	CCDS9443.1, CCDS9444.1	13q21.32	2010-02-22			ENSG00000184226	ENSG00000184226		"Cadherins / Protocadherins : Non-clustered"	8661	protein-coding gene	gene with protein product		603581				9787079	Standard	NM_020403		Approved		uc001vik.3	Q9HC56	OTTHUMG00000017040	ENST00000377865.2:c.1610G>A	13.37:g.67800963C>T	ENSP00000367096:p.Arg537Gln					PCDH9_ENST00000377861.3_Missense_Mutation_p.R537Q|PCDH9_ENST00000328454.5_Missense_Mutation_p.R537Q|PCDH9_ENST00000456367.1_Missense_Mutation_p.R537Q|PCDH9_ENST00000377865.2_Missense_Mutation_p.R537Q	p.R537Q	NM_203487.2	NP_982354.1	Q9HC56	PCDH9_HUMAN		GBM - Glioblastoma multiforme(99;0.00819)	2	2301	-		Hepatocellular(98;0.0906)|Breast(118;0.107)	537			Cadherin 5.		A2A6U1|Q5VT83|Q7Z3U0|Q8N3K7	Missense_Mutation	SNP	ENST00000377865.2	37	c.1610G>A	CCDS9444.1	.	.	.	.	.	.	.	.	.	.	C	17.09	3.299159	0.60195	.	.	ENSG00000184226	ENST00000544246;ENST00000377865;ENST00000456367;ENST00000328454;ENST00000377861	T;T;T;T;T	0.49432	0.78;0.78;0.78;0.78;0.78	6.08	6.08	0.98989	Cadherin (5);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.55768	0.1941	N	0.17838	0.53	0.58432	D	0.999994	D;D;D;D	0.65815	0.978;0.99;0.994;0.995	P;P;P;D	0.63283	0.821;0.806;0.859;0.913	T	0.57602	-0.7783	10	0.62326	D	0.03	.	20.6634	0.99662	0.0:1.0:0.0:0.0	.	537;537;537;537	B7ZM79;Q5VT82;Q9HC56-2;Q9HC56	.;.;.;PCDH9_HUMAN	Q	537	ENSP00000442186:R537Q;ENSP00000367096:R537Q;ENSP00000401699:R537Q;ENSP00000332060:R537Q;ENSP00000367092:R537Q	ENSP00000332060:R537Q	R	-	2	0	PCDH9	66698964	0.974000	0.33945	0.732000	0.30844	0.992000	0.81027	6.089000	0.71384	2.894000	0.99253	0.655000	0.94253	CGA		0.463	PCDH9-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276387.1	NM_203487		35	10	0	0	0	1	0	35	10					T	67800963	C	T	67800963	3	4	435	1	0	0	0	0	1	0	0	0	11518	884	31	2	2119	2	PCDH9	13	67800963	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	14380183	67800963	47368915	6062	26987											
PCDH9	5101	broad.mit.edu	37	chr13	67801545	67801545	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cggtgacattgatggtaaccGttgctcgagcaggagtggag	9	9	16	7	3	0	2	0	2	0	0	1	5	0	4	1	4	3	4	1	4	1	3	rs141436710		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr13:67801545G>A	ENST00000377865.2	-	1	1162	c.1028C>T	c.(1027-1029)aCg>aTg	p.T343M	PCDH9_ENST00000456367.1_Missense_Mutation_p.T343M|PCDH9_ENST00000377861.3_Missense_Mutation_p.T343M|PCDH9_ENST00000544246.1_Missense_Mutation_p.T343M|PCDH9_ENST00000328454.5_Missense_Mutation_p.T343M			Q9HC56	PCDH9_HUMAN	protocadherin 9	343	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				forebrain development (GO:0030900)|homophilic cell adhesion (GO:0007156)	cell-cell contact zone (GO:0044291)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		GATGGTAACCGTTGCTCGAGC	0.463																																						ENST00000544246.1																			0				breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103						c.(1027-1029)aCg>aTg		protocadherin 9		G	MET/THR,MET/THR	1,4405	2.1+/-5.4	0,1,2202	119	117	118		1028,1028	5.3	1	13	dbSNP_134	118	0,8600		0,0,4300	no	missense,missense	PCDH9	NM_020403.4,NM_203487.2	81,81	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	possibly-damaging,possibly-damaging	343/1204,343/1238	67801545	1,13005	2203	4300	6503	SO:0001583	missense	5101				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr13:67801545G>A	AF169692	CCDS9443.1, CCDS9444.1	13q21.32	2010-02-22			ENSG00000184226	ENSG00000184226		"Cadherins / Protocadherins : Non-clustered"	8661	protein-coding gene	gene with protein product		603581				9787079	Standard	NM_020403		Approved		uc001vik.3	Q9HC56	OTTHUMG00000017040	ENST00000377865.2:c.1028C>T	13.37:g.67801545G>A	ENSP00000367096:p.Thr343Met					PCDH9_ENST00000377861.3_Missense_Mutation_p.T343M|PCDH9_ENST00000328454.5_Missense_Mutation_p.T343M|PCDH9_ENST00000456367.1_Missense_Mutation_p.T343M|PCDH9_ENST00000377865.2_Missense_Mutation_p.T343M	p.T343M	NM_203487.2	NP_982354.1	Q9HC56	PCDH9_HUMAN		GBM - Glioblastoma multiforme(99;0.00819)	2	1719	-		Hepatocellular(98;0.0906)|Breast(118;0.107)	343			Cadherin 3.		A2A6U1|Q5VT83|Q7Z3U0|Q8N3K7	Missense_Mutation	SNP	ENST00000377865.2	37	c.1028C>T	CCDS9444.1	.	.	.	.	.	.	.	.	.	.	G	9.883	1.202046	0.22121	2.27E-4	0.0	ENSG00000184226	ENST00000544246;ENST00000377865;ENST00000456367;ENST00000328454;ENST00000377861	T;T;T;T;T	0.57107	0.42;0.42;0.42;0.42;0.42	6.17	5.33	0.75918	Cadherin (4);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.53498	0.1800	L	0.46567	1.45	0.80722	D	1	P;P;P;P	0.44946	0.846;0.533;0.649;0.698	P;B;B;B	0.47299	0.543;0.183;0.29;0.414	T	0.48779	-0.9005	10	0.25106	T	0.35	.	15.7894	0.78343	0.065:0.0:0.935:0.0	.	343;343;343;343	B7ZM79;Q5VT82;Q9HC56-2;Q9HC56	.;.;.;PCDH9_HUMAN	M	343	ENSP00000442186:T343M;ENSP00000367096:T343M;ENSP00000401699:T343M;ENSP00000332060:T343M;ENSP00000367092:T343M	ENSP00000332060:T343M	T	-	2	0	PCDH9	66699546	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.025000	0.88777	1.626000	0.50381	0.655000	0.94253	ACG		0.463	PCDH9-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276387.1	NM_203487		39	16	0	0	0	1	0	39	16					A	67801545	G	A	67801545	3	1	435	1	0	0	0	0	1	0	0	0	11518	1145	40	1	2701	1	PCDH9	13	67801545	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	582	67801545	47368333	6063	26988											
PCDH9	5101	broad.mit.edu	37	chr13	67802360	67802360	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	actttcaccaaaggggcatcCccagctttagaaaccagtct	12	9	7	13	0	2	1	1	0	1	1	3	1	3	1	4	2	2	2	4	2	3	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr13:67802360C>T	ENST00000377865.2	-	1	347	c.213G>A	c.(211-213)ggG>ggA	p.G71G	PCDH9_ENST00000456367.1_Silent_p.G71G|PCDH9_ENST00000377861.3_Silent_p.G71G|PCDH9_ENST00000544246.1_Silent_p.G71G|PCDH9_ENST00000328454.5_Silent_p.G71G			Q9HC56	PCDH9_HUMAN	protocadherin 9	71	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				forebrain development (GO:0030900)|homophilic cell adhesion (GO:0007156)	cell-cell contact zone (GO:0044291)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.G71G(1)		breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		AAGGGGCATCCCCAGCTTTAG	0.488																																						ENST00000544246.1																			1	Substitution - coding silent(1)	p.G71G(1)	lung(1)	breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103						c.(211-213)ggG>ggA		protocadherin 9							67	65	66					13																	67802360		2203	4300	6503	SO:0001819	synonymous_variant	5101				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr13:67802360C>T	AF169692	CCDS9443.1, CCDS9444.1	13q21.32	2010-02-22			ENSG00000184226	ENSG00000184226		"Cadherins / Protocadherins : Non-clustered"	8661	protein-coding gene	gene with protein product		603581				9787079	Standard	NM_020403		Approved		uc001vik.3	Q9HC56	OTTHUMG00000017040	ENST00000377865.2:c.213G>A	13.37:g.67802360C>T						PCDH9_ENST00000377861.3_Silent_p.G71G|PCDH9_ENST00000328454.5_Silent_p.G71G|PCDH9_ENST00000456367.1_Silent_p.G71G|PCDH9_ENST00000377865.2_Silent_p.G71G	p.G71G	NM_203487.2	NP_982354.1	Q9HC56	PCDH9_HUMAN		GBM - Glioblastoma multiforme(99;0.00819)	2	904	-		Hepatocellular(98;0.0906)|Breast(118;0.107)	71			Cadherin 1.		A2A6U1|Q5VT83|Q7Z3U0|Q8N3K7	Silent	SNP	ENST00000377865.2	37	c.213G>A	CCDS9444.1																																																																																				0.488	PCDH9-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276387.1	NM_203487		17	7	0	0	0	1	0	17	7					T	67802360	C	T	67802360	2	4	435	1	0	0	0	0	0	0	0	1	11518	610	22	3		3	PCDH9	13	67802360	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	815	67802360	47367518	6064	26989											
DIS3	22894	broad.mit.edu	37	chr13	73346001	73346001	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	caaggcatttcctggcctaaTaaaatggctcacatcagcaa	14	9	7	11	0	2	0	2	0	0	0	3	0	3	0	2	3	1	3	2	3	5	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr13:73346001T>C	ENST00000377767.4	-	11	1637	c.1537A>G	c.(1537-1539)Att>Gtt	p.I513V	DIS3_ENST00000377780.4_Missense_Mutation_p.I483V|DIS3_ENST00000545453.1_Missense_Mutation_p.I351V	NM_014953.3	NP_055768.3	Q9Y2L1	RRP44_HUMAN	DIS3 exosome endoribonuclease and 3'-5' exoribonuclease	513					CUT catabolic process (GO:0071034)|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|positive regulation of GTPase activity (GO:0043547)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|rRNA catabolic process (GO:0016075)|rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|exosome (RNase complex) (GO:0000178)|membrane (GO:0016020)|nuclear exosome (RNase complex) (GO:0000176)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	3'-5'-exoribonuclease activity (GO:0000175)|endonuclease activity (GO:0004519)|guanyl-nucleotide exchange factor activity (GO:0005085)|RNA binding (GO:0003723)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(7)|kidney(5)|large_intestine(10)|lung(6)|prostate(2)|skin(1)	35		Breast(118;0.0074)|Acute lymphoblastic leukemia(28;0.0195)		GBM - Glioblastoma multiforme(99;0.000181)		CCTGGCCTAATAAAATGGCTC	0.333										Multiple Myeloma(4;0.011)																												ENST00000377767.4																			0				central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(7)|kidney(5)|large_intestine(10)|lung(6)|prostate(2)|skin(1)	35						c.(1537-1539)Att>Gtt		DIS3 mitotic control homolog (S. cerevisiae)							95	95	95					13																	73346001		2203	4300	6503	SO:0001583	missense	22894				CUT catabolic process|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|rRNA catabolic process|rRNA processing	cytosol|exosome (RNase complex)|nucleolus|nucleoplasm	3'-5'-exoribonuclease activity|endonuclease activity|guanyl-nucleotide exchange factor activity|protein binding|RNA binding	g.chr13:73346001T>C	AB023225	CCDS9447.1, CCDS45057.1	13q21.32	2014-03-05	2014-03-05	2007-01-12	ENSG00000083520	ENSG00000083520			20604	protein-coding gene	gene with protein product	"exosome component 11"	607533	"KIAA1008", "DIS3 mitotic control homolog (S. cerevisiae)"	KIAA1008		11935316, 9562621	Standard	XM_005266294		Approved	dis3p, RRP44, EXOSC11	uc001vix.4	Q9Y2L1	OTTHUMG00000017070	ENST00000377767.4:c.1537A>G	13.37:g.73346001T>C	ENSP00000366997:p.Ile513Val	Multiple Myeloma(4;0.011)				DIS3_ENST00000377780.4_Missense_Mutation_p.I483V|DIS3_ENST00000545453.1_Missense_Mutation_p.I351V	p.I513V	NM_014953.3	NP_055768.3	Q9Y2L1	RRP44_HUMAN		GBM - Glioblastoma multiforme(99;0.000181)	11	1637	-		Breast(118;0.0074)|Acute lymphoblastic leukemia(28;0.0195)	513					A6NI21|B2RBL2|Q5W0P7|Q5W0P8|Q658Z7|Q7Z481|Q8WWI2|Q9UG36	Missense_Mutation	SNP	ENST00000377767.4	37	c.1537A>G	CCDS9447.1	.	.	.	.	.	.	.	.	.	.	T	11.99	1.803890	0.31869	.	.	ENSG00000083520	ENST00000377767;ENST00000377780;ENST00000545453	T;T;T	0.34667	1.35;1.35;1.35	5.76	5.76	0.90799	Ribonuclease II/R (2);	0.000000	0.85682	D	0.000000	T	0.16854	0.0405	N	0.00783	-1.19	0.80722	D	1	B;B	0.30889	0.254;0.299	B;B	0.41510	0.245;0.359	T	0.31530	-0.9940	10	0.02654	T	1	.	16.0785	0.80982	0.0:0.0:0.0:1.0	.	483;513	Q9Y2L1-2;Q9Y2L1	.;RRP44_HUMAN	V	513;483;351	ENSP00000366997:I513V;ENSP00000367011:I483V;ENSP00000440058:I351V	ENSP00000366997:I513V	I	-	1	0	DIS3	72244002	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.852000	0.86927	2.200000	0.70718	0.379000	0.24179	ATT		0.333	DIS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045250.2	NM_014953		5	70	0	0	0	1	0	5	70					C	73346001	T	C	73346001	3	2	435	1	0	0	0	0	1	0	0	0	4535	1406	49	4	1383	4	DIS3	13	73346001	Missense_Mutation	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	5543641	73346001	41823877	6065	26990											
PIBF1	10464	broad.mit.edu	37	chr13	73572995	73572995	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaacagattctcgttaagatGcatagtaaacattctgagaa	17	11	7	6	1	2	3	0	1	2	3	3	4	2	3	0	0	3	3	0	0	6	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr13:73572995G>A	ENST00000326291.6	+	17	2423	c.2085G>A	c.(2083-2085)atG>atA	p.M695I	PIBF1_ENST00000489922.1_3'UTR	NM_006346.2	NP_006337.2	Q8WXW3	PIBF1_HUMAN	progesterone immunomodulatory binding factor 1	695						centrosome (GO:0005813)				breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	24		Prostate(6;0.00191)|Breast(118;0.0736)|Acute lymphoblastic leukemia(28;0.0865)		GBM - Glioblastoma multiforme(99;0.000664)		TCGTTAAGATGCATAGTAAAC	0.343																																						ENST00000326291.6																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	24						c.(2083-2085)atG>atA		progesterone immunomodulatory binding factor 1							78	70	73					13																	73572995		2203	4299	6502	SO:0001583	missense	10464					centrosome		g.chr13:73572995G>A	AF330046	CCDS31991.1	13q21.33	2014-02-20	2007-10-17	2007-10-17	ENSG00000083535	ENSG00000083535			23352	protein-coding gene	gene with protein product	"progesterone-induced blocking factor 1"	607532	"chromosome 13 open reading frame 24"	C13orf24		11935316	Standard	NM_006346		Approved	CEP90	uc001vjc.3	Q8WXW3	OTTHUMG00000017071	ENST00000326291.6:c.2085G>A	13.37:g.73572995G>A	ENSP00000317144:p.Met695Ile					PIBF1_ENST00000489922.1_3'UTR	p.M695I	NM_006346.2	NP_006337.2	Q8WXW3	PIBF1_HUMAN		GBM - Glioblastoma multiforme(99;0.000664)	17	2423	+		Prostate(6;0.00191)|Breast(118;0.0736)|Acute lymphoblastic leukemia(28;0.0865)	695					O95664|Q6U9V2|Q6UG50|Q86V07|Q96SF4	Missense_Mutation	SNP	ENST00000326291.6	37	c.2085G>A	CCDS31991.1	.	.	.	.	.	.	.	.	.	.	G	14.03	2.414057	0.42817	.	.	ENSG00000083535	ENST00000326291;ENST00000326314	T	0.23147	1.92	5.64	3.76	0.43208	.	0.150694	0.53938	N	0.000044	T	0.19525	0.0469	L	0.46157	1.445	0.33589	D	0.600822	B	0.13594	0.008	B	0.14578	0.011	T	0.14309	-1.0477	10	0.40728	T	0.16	-5.3452	4.9315	0.13919	0.1399:0.0:0.3998:0.4602	.	695	Q8WXW3	PIBF1_HUMAN	I	695;154	ENSP00000317144:M695I	ENSP00000317144:M695I	M	+	3	0	PIBF1	72470996	1.000000	0.71417	0.995000	0.50966	0.899000	0.52679	0.819000	0.27308	1.338000	0.45544	0.650000	0.86243	ATG		0.343	PIBF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045255.1	NM_006346		20	10	0	0	0	1	0	20	10					A	73572995	G	A	73572995	3	1	435	1	0	0	0	0	1	0	0	0	11879	1319	46	3	2147	3	PIBF1	13	73572995	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	226994	73572995	41596883	6066	26991											
KLF12	11278	broad.mit.edu	37	chr13	74269699	74269699	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aagctgcgatcacagtccgcGcacttgaatggcttcactcc	9	9	9	14	3	2	1	2	1	0	0	4	2	4	1	2	1	2	3	2	1	2	2	rs149878794	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr13:74269699G>A	ENST00000377669.2	-	7	1163	c.1137C>T	c.(1135-1137)tgC>tgT	p.C379C	KLF12_ENST00000377666.4_Silent_p.C379C	NM_007249.4	NP_009180.3	Q9Y4X4	KLF12_HUMAN	Kruppel-like factor 12	379					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			central_nervous_system(1)|endometrium(5)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	16		Prostate(6;0.00217)|Breast(118;0.0838)		GBM - Glioblastoma multiforme(99;0.00677)		CACAGTCCGCGCACTTGAATG	0.542													G|||	11	0.00219649	0.0068	0.0029	5008	,	,		21089	0		0	False		,,,				2504	0					ENST00000377669.2																			0				central_nervous_system(1)|endometrium(5)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	16						c.(1135-1137)tgC>tgT		Kruppel-like factor 12		G		57,4349	55.5+/-91.7	0,57,2146	164	128	140		1137	-2.8	1	13	dbSNP_134	140	0,8600		0,0,4300	no	coding-synonymous	KLF12	NM_007249.4		0,57,6446	AA,AG,GG		0.0,1.2937,0.4383		379/403	74269699	57,12949	2203	4300	6503	SO:0001819	synonymous_variant	11278				negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding	g.chr13:74269699G>A	AJ243274	CCDS9449.1	13q22	2013-01-08			ENSG00000118922	ENSG00000118922		"Kruppel-like transcription factors", "Zinc fingers, C2H2-type"	6346	protein-coding gene	gene with protein product	"KLF12 zinc finger transcriptional repressor", "AP-2rep transcription factor", "AP-2 repressor"	607531				10704285	Standard	NM_007249		Approved	AP-2rep, HSPC122, AP2REP	uc001vjf.3	Q9Y4X4	OTTHUMG00000017078	ENST00000377669.2:c.1137C>T	13.37:g.74269699G>A						KLF12_ENST00000377666.4_Silent_p.C379C	p.C379C	NM_007249.4	NP_009180.3	Q9Y4X4	KLF12_HUMAN		GBM - Glioblastoma multiforme(99;0.00677)	7	1163	-		Prostate(6;0.00217)|Breast(118;0.0838)	379					A8K5T2|L0R3J4|Q5VZM7|Q9UHZ0	Silent	SNP	ENST00000377669.2	37	c.1137C>T	CCDS9449.1																																																																																				0.542	KLF12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045271.2	NM_007249		36	12	0	0	0	1	0	36	12					A	74269699	G	A	74269699	2	1	435	1	0	0	0	0	0	0	0	1	8340	1079	38	1		1	KLF12	13	74269699	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	696704	74269699	40900179	6067	26992											
MYCBP2	23077	broad.mit.edu	37	chr13	77629784	77629784	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcacaccaggagttgtgataGcttcactcttatgcagacct	10	12	8	11	0	3	2	2	1	1	1	3	3	3	3	2	1	2	3	2	1	2	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr13:77629784G>A	ENST00000544440.2	-	80	13459	c.13442C>T	c.(13441-13443)gCt>gTt	p.A4481V	MYCBP2_ENST00000357337.6_Missense_Mutation_p.A4481V|MYCBP2_ENST00000407578.2_Missense_Mutation_p.A4519V					MYC binding protein 2, E3 ubiquitin protein ligase											NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		AGTTGTGATAGCTTCACTCTT	0.373																																						ENST00000407578.2																			0				NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118						c.(13555-13557)gCt>gTt		MYC binding protein 2, E3 ubiquitin protein ligase							135	102	113					13																	77629784		2203	4300	6503	SO:0001583	missense	23077				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding	g.chr13:77629784G>A	AB020723		13q22	2012-02-23	2012-02-23		ENSG00000005810	ENSG00000005810			23386	protein-coding gene	gene with protein product		610392	"MYC binding protein 2"			9689053, 15057823	Standard	NM_015057		Approved	PAM, KIAA0916, FLJ10106	uc021rks.1	O75592	OTTHUMG00000017105	ENST00000544440.2:c.13442C>T	13.37:g.77629784G>A	ENSP00000444596:p.Ala4481Val					MYCBP2_ENST00000544440.2_Missense_Mutation_p.A4481V|MYCBP2_ENST00000357337.6_Missense_Mutation_p.A4481V	p.A4519V	NM_015057.4	NP_055872.4	O75592	MYCB2_HUMAN		GBM - Glioblastoma multiforme(99;0.109)	80	13822	-		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)	4481						Missense_Mutation	SNP	ENST00000544440.2	37	c.13556C>T		.	.	.	.	.	.	.	.	.	.	G	25.8	4.670273	0.88348	.	.	ENSG00000005810	ENST00000357337;ENST00000407578;ENST00000544440	T;T;T	0.32272	1.46;1.46;1.46	5.11	5.11	0.69529	.	0.000000	0.85682	D	0.000000	T	0.30665	0.0772	L	0.43152	1.355	0.80722	D	1	B	0.18013	0.025	B	0.19666	0.026	T	0.04029	-1.0983	10	0.33940	T	0.23	.	18.7211	0.91694	0.0:0.0:1.0:0.0	.	4481	O75592	MYCB2_HUMAN	V	4481;4519;4481	ENSP00000349892:A4481V;ENSP00000384288:A4519V;ENSP00000444596:A4481V	ENSP00000349892:A4481V	A	-	2	0	MYCBP2	76527785	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	9.255000	0.95524	2.637000	0.89404	0.655000	0.94253	GCT		0.373	MYCBP2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000045326.1	NM_015057		24	14	0	0	0	1	0	24	14					A	77629784	G	A	77629784	3	1	435	1	0	0	0	0	1	0	0	0	10018	971	34	3	496	3	MYCBP2	13	77629784	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	3360085	77629784	37540094	6068	26993											
MYCBP2	23077	broad.mit.edu	37	chr13	77671856	77671856	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttcattgtgttatgcatggAcatttcaaaagtggtctcgg	9	15	10	7	1	3	0	2	0	1	0	4	1	3	1	0	3	1	2	0	3	3	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr13:77671856A>G	ENST00000544440.2	-	56	9336	c.9319T>C	c.(9319-9321)Tcc>Ccc	p.S3107P	MYCBP2_ENST00000482517.1_5'Flank|MYCBP2_ENST00000357337.6_Missense_Mutation_p.S3107P|MYCBP2-AS1_ENST00000593933.1_RNA|MYCBP2_ENST00000407578.2_Missense_Mutation_p.S3145P					MYC binding protein 2, E3 ubiquitin protein ligase											NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		TTATGCATGGACATTTCAAAA	0.403																																						ENST00000407578.2																			0				NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118						c.(9433-9435)Tcc>Ccc		MYC binding protein 2, E3 ubiquitin protein ligase							129	112	118					13																	77671856		2203	4300	6503	SO:0001583	missense	23077				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding	g.chr13:77671856A>G	AB020723		13q22	2012-02-23	2012-02-23		ENSG00000005810	ENSG00000005810			23386	protein-coding gene	gene with protein product		610392	"MYC binding protein 2"			9689053, 15057823	Standard	NM_015057		Approved	PAM, KIAA0916, FLJ10106	uc021rks.1	O75592	OTTHUMG00000017105	ENST00000544440.2:c.9319T>C	13.37:g.77671856A>G	ENSP00000444596:p.Ser3107Pro					MYCBP2-AS1_ENST00000593933.1_RNA|MYCBP2_ENST00000544440.2_Missense_Mutation_p.S3107P|MYCBP2_ENST00000357337.6_Missense_Mutation_p.S3107P	p.S3145P	NM_015057.4	NP_055872.4	O75592	MYCB2_HUMAN		GBM - Glioblastoma multiforme(99;0.109)	56	9699	-		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)	3107						Missense_Mutation	SNP	ENST00000544440.2	37	c.9433T>C		.	.	.	.	.	.	.	.	.	.	A	10.65	1.409384	0.25378	.	.	ENSG00000005810	ENST00000357337;ENST00000407578;ENST00000544440	T;T;T	0.29142	1.58;1.58;1.58	5.57	4.37	0.52481	.	0.062205	0.64402	D	0.000003	T	0.14874	0.0359	N	0.08118	0	0.43164	D	0.994955	B;B;B	0.09022	0.002;0.0;0.0	B;B;B	0.11329	0.006;0.001;0.001	T	0.06570	-1.0819	10	0.35671	T	0.21	.	7.2937	0.26380	0.7809:0.1467:0.0724:0.0	.	493;3107;3107	Q9UG08;O75592-2;O75592	.;.;MYCB2_HUMAN	P	3107;3145;3107	ENSP00000349892:S3107P;ENSP00000384288:S3145P;ENSP00000444596:S3107P	ENSP00000349892:S3107P	S	-	1	0	MYCBP2	76569857	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.173000	0.58249	0.918000	0.36919	0.533000	0.62120	TCC		0.403	MYCBP2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000045326.1	NM_015057		24	11	0	0	0	1	0	24	11					G	77671856	A	G	77671856	3	3	435	1	0	0	0	0	1	0	0	0	10018	275	10	4	4715	4	MYCBP2	13	77671856	Missense_Mutation	SNP	A	TCGA-XK-AAIW-01A-11D-A41K-08	42072	77671856	37498022	6069	26994											
MYCBP2	23077	broad.mit.edu	37	chr13	77713379	77713379	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	agatgttgattaaaagagagGcaccaggcttcagtgtaacc	14	9	11	7	0	1	3	1	1	0	2	1	4	1	3	2	2	1	4	2	2	3	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr13:77713379G>A	ENST00000544440.2	-	52	7514	c.7497C>T	c.(7495-7497)tgC>tgT	p.C2499C	MYCBP2_ENST00000360084.5_5'UTR|MYCBP2_ENST00000357337.6_Silent_p.C2499C|MYCBP2_ENST00000407578.2_Silent_p.C2537C					MYC binding protein 2, E3 ubiquitin protein ligase											NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		TAAAAGAGAGGCACCAGGCTT	0.388																																						ENST00000407578.2																			0				NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118						c.(7609-7611)tgC>tgT		MYC binding protein 2, E3 ubiquitin protein ligase							189	165	174					13																	77713379		2203	4300	6503	SO:0001819	synonymous_variant	23077				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding	g.chr13:77713379G>A	AB020723		13q22	2012-02-23	2012-02-23		ENSG00000005810	ENSG00000005810			23386	protein-coding gene	gene with protein product		610392	"MYC binding protein 2"			9689053, 15057823	Standard	NM_015057		Approved	PAM, KIAA0916, FLJ10106	uc021rks.1	O75592	OTTHUMG00000017105	ENST00000544440.2:c.7497C>T	13.37:g.77713379G>A						MYCBP2_ENST00000360084.5_5'UTR|MYCBP2_ENST00000544440.2_Silent_p.C2499C|MYCBP2_ENST00000357337.6_Silent_p.C2499C	p.C2537C	NM_015057.4	NP_055872.4	O75592	MYCB2_HUMAN		GBM - Glioblastoma multiforme(99;0.109)	52	7877	-		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)	2499						Silent	SNP	ENST00000544440.2	37	c.7611C>T																																																																																					0.388	MYCBP2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000045326.1	NM_015057		49	21	0	0	0	1	0	49	21					A	77713379	G	A	77713379	2	1	435	1	0	0	0	0	0	0	0	1	10018	1195	42	3		3	MYCBP2	13	77713379	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	41523	77713379	37456499	6070	26995											
MYCBP2	23077	broad.mit.edu	37	chr13	77835490	77835490	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tgtttgattccaagactctgGtatttgccagtgtaatatat	10	17	8	6	0	1	2	0	1	1	1	2	2	2	2	2	1	1	3	2	1	5	7			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr13:77835490G>A	ENST00000544440.2	-	12	1571	c.1554C>T	c.(1552-1554)taC>taT	p.Y518Y	MYCBP2_ENST00000360084.5_5'UTR|MYCBP2_ENST00000357337.6_Silent_p.Y518Y|MYCBP2_ENST00000407578.2_Silent_p.Y556Y					MYC binding protein 2, E3 ubiquitin protein ligase											NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		CAAGACTCTGGTATTTGCCAG	0.358																																						ENST00000407578.2																			0				NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118						c.(1666-1668)taC>taT		MYC binding protein 2, E3 ubiquitin protein ligase							101	93	96					13																	77835490		2203	4300	6503	SO:0001819	synonymous_variant	23077				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding	g.chr13:77835490G>A	AB020723		13q22	2012-02-23	2012-02-23		ENSG00000005810	ENSG00000005810			23386	protein-coding gene	gene with protein product		610392	"MYC binding protein 2"			9689053, 15057823	Standard	NM_015057		Approved	PAM, KIAA0916, FLJ10106	uc021rks.1	O75592	OTTHUMG00000017105	ENST00000544440.2:c.1554C>T	13.37:g.77835490G>A						MYCBP2_ENST00000360084.5_5'UTR|MYCBP2_ENST00000544440.2_Silent_p.Y518Y|MYCBP2_ENST00000357337.6_Silent_p.Y518Y	p.Y556Y	NM_015057.4	NP_055872.4	O75592	MYCB2_HUMAN		GBM - Glioblastoma multiforme(99;0.109)	12	1934	-		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)	518						Silent	SNP	ENST00000544440.2	37	c.1668C>T																																																																																					0.358	MYCBP2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000045326.1	NM_015057		26	9	0	0	0	1	0	26	9					A	77835490	G	A	77835490	2	1	435	1	0	0	0	0	0	0	0	1	10018	1256	44	3		3	MYCBP2	13	77835490	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	122111	77835490	37334388	6071	26996											
SCEL	8796	broad.mit.edu	37	chr13	78216886	78216886	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aaaatctacaagcgggtgatAgtatttggatttatagacag	15	12	10	4	1	1	2	0	1	1	1	1	3	1	3	0	2	2	1	0	2	8	7			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr13:78216886A>G	ENST00000349847.3	+	32	2077	c.1993A>G	c.(1993-1995)Agt>Ggt	p.S665G	SCEL_ENST00000377246.3_Missense_Mutation_p.S645G|SCEL_ENST00000535157.1_Missense_Mutation_p.S623G	NM_144777.2	NP_659001.2	O95171	SCEL_HUMAN	sciellin	665	LIM zinc-binding. {ECO:0000255|PROSITE- ProRule:PRU00125}.				embryo development (GO:0009790)|epidermis development (GO:0008544)|keratinocyte differentiation (GO:0030216)	cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(18)|ovary(5)|prostate(1)|stomach(1)|urinary_tract(1)	40		Acute lymphoblastic leukemia(28;0.0282)|Breast(118;0.037)		GBM - Glioblastoma multiforme(99;0.0233)		AGCGGGTGATAGTATTTGGAT	0.308																																						ENST00000535157.1																			0				breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(18)|ovary(5)|prostate(1)|stomach(1)|urinary_tract(1)	40						c.(1867-1869)Agt>Ggt		sciellin							117	116	117					13																	78216886		2202	4299	6501	SO:0001583	missense	8796				embryo development|keratinocyte differentiation	cornified envelope|cytoplasm|membrane	protein binding|zinc ion binding	g.chr13:78216886A>G	AF045941	CCDS9458.1, CCDS9459.1, CCDS53877.1	13q22	2008-07-18			ENSG00000136155	ENSG00000136155			10573	protein-coding gene	gene with protein product		604112				9813070	Standard	NM_003843		Approved	FLJ21667, MGC22531	uc001vki.3	O95171	OTTHUMG00000017107	ENST00000349847.3:c.1993A>G	13.37:g.78216886A>G	ENSP00000302579:p.Ser665Gly					SCEL_ENST00000349847.3_Missense_Mutation_p.S665G|SCEL_ENST00000377246.3_Missense_Mutation_p.S645G	p.S623G	NM_001160706.1	NP_001154178.1	O95171	SCEL_HUMAN		GBM - Glioblastoma multiforme(99;0.0233)	30	2037	+		Acute lymphoblastic leukemia(28;0.0282)|Breast(118;0.037)	665			LIM zinc-binding.		B7Z797|F5H651|Q53H61|Q5W0S8|Q5W0S9|Q86X00	Missense_Mutation	SNP	ENST00000349847.3	37	c.1867A>G	CCDS9459.1	.	.	.	.	.	.	.	.	.	.	A	23.7	4.448687	0.84101	.	.	ENSG00000136155	ENST00000535157;ENST00000377246;ENST00000349847	D;D;D	0.81579	-1.51;-1.51;-1.51	5.81	5.81	0.92471	Zinc finger, LIM-type (3);	0.000000	0.64402	D	0.000002	D	0.86948	0.6056	L	0.51422	1.61	0.49213	D	0.999766	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.85130	0.996;0.995;0.997	D	0.87731	0.2579	10	0.62326	D	0.03	-24.1519	15.1388	0.72595	1.0:0.0:0.0:0.0	.	623;645;665	F5H651;O95171-2;O95171	.;.;SCEL_HUMAN	G	623;645;665	ENSP00000437895:S623G;ENSP00000366454:S645G;ENSP00000302579:S665G	ENSP00000302579:S665G	S	+	1	0	SCEL	77114887	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	7.086000	0.76885	2.210000	0.71456	0.533000	0.62120	AGT		0.308	SCEL-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045339.2	NM_144777		22	13	0	0	0	1	0	22	13					G	78216886	A	G	78216886	3	3	435	1	0	0	0	0	1	0	0	0	13888	420	15	4	2115	4	SCEL	13	78216886	Missense_Mutation	SNP	A	TCGA-XK-AAIW-01A-11D-A41K-08	381396	78216886	36952992	6072	26997											
POU4F1	5457	broad.mit.edu	37	chr13	79176630	79176630	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcgatgtccacggccgccagCgcctcggcccgcgccagcag	5	3	14	19	7	0	0	0	0	0	0	2	1	1	0	6	2	2	1	6	2	0	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr13:79176630C>T	ENST00000377208.5	-	2	391	c.180G>A	c.(178-180)gcG>gcA	p.A60A	RP11-52L5.6_ENST00000607269.1_RNA|RNF219-AS1_ENST00000607205.1_RNA|RNF219-AS1_ENST00000444769.3_RNA|RNF219-AS1_ENST00000606376.1_RNA|RNF219-AS1_ENST00000606124.1_RNA|RNF219-AS1_ENST00000607860.1_RNA|RNF219-AS1_ENST00000560209.2_RNA|RNF219-AS1_ENST00000606429.1_RNA|RNF219-AS1_ENST00000430549.2_RNA|RNF219-AS1_ENST00000560584.2_RNA|RNF219-AS1_ENST00000607220.1_RNA	NM_006237.3	NP_006228.3	Q01851	PO4F1_HUMAN	POU class 4 homeobox 1	60					axonogenesis (GO:0007409)|cell migration in hindbrain (GO:0021535)|central nervous system neuron differentiation (GO:0021953)|habenula development (GO:0021986)|innervation (GO:0060384)|mesoderm development (GO:0007498)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron fate specification (GO:0048665)|peripheral nervous system neuron development (GO:0048935)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proprioception involved in equilibrioception (GO:0051355)|regulation of neurogenesis (GO:0050767)|sensory system development (GO:0048880)|suckling behavior (GO:0001967)|synapse assembly (GO:0007416)|transcription from RNA polymerase II promoter (GO:0006366)|trigeminal nerve development (GO:0021559)|ventricular compact myocardium morphogenesis (GO:0003223)	neuron projection (GO:0043005)|nuclear chromatin (GO:0000790)	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)			central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(5)|ovary(1)	16		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.0848)		GBM - Glioblastoma multiforme(99;0.129)		CGGCCGCCAGCGCCTCGGCCC	0.612																																					Melanoma(109;347 2166 14574 42843)|Ovarian(81;1394 1854 22417 48351)	ENST00000377208.5																			0				central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(5)|ovary(1)	16						c.(178-180)gcG>gcA		POU class 4 homeobox 1							27	18	21					13																	79176630		2186	4286	6472	SO:0001819	synonymous_variant	5457				axonogenesis|regulation of transcription from RNA polymerase II promoter|synapse assembly	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr13:79176630C>T	X64624	CCDS31996.1	13q31.1	2011-06-20	2007-07-13		ENSG00000152192	ENSG00000152192		"Homeoboxes / POU class"	9218	protein-coding gene	gene with protein product		601632	"POU domain class 4, transcription factor 1"	BRN3A		1357630	Standard	NM_006237		Approved	RDC-1	uc001vkv.3	Q01851	OTTHUMG00000017119	ENST00000377208.5:c.180G>A	13.37:g.79176630C>T						RNF219-AS1_ENST00000560209.2_RNA|RNF219-AS1_ENST00000607860.1_RNA|RNF219-AS1_ENST00000430549.2_RNA|RNF219-AS1_ENST00000607220.1_RNA|RNF219-AS1_ENST00000606376.1_RNA|RNF219-AS1_ENST00000606124.1_RNA|RNF219-AS1_ENST00000444769.3_RNA|RNF219-AS1_ENST00000606429.1_RNA|RNF219-AS1_ENST00000607205.1_RNA|RNF219-AS1_ENST00000560584.2_RNA	p.A60A	NM_006237.3	NP_006228.3	Q01851	PO4F1_HUMAN		GBM - Glioblastoma multiforme(99;0.129)	2	391	-		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.0848)	60					Q14986|Q15318|Q5T227	Silent	SNP	ENST00000377208.5	37	c.180G>A	CCDS31996.1																																																																																				0.612	POU4F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045360.3			8	4	0	0	0	1	0	8	4					T	79176630	C	T	79176630	2	4	435	1	0	0	0	0	0	0	0	1	12278	755	27	1		1	POU4F1	13	79176630	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	959744	79176630	35993248	6073	26998											
SLITRK1	114798	broad.mit.edu	37	chr13	84453636	84453636	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccattgtgccagtaggaagaGtcacagactgtctgtaggga	11	9	13	8	0	2	2	1	0	1	2	2	4	2	4	2	2	1	2	2	2	3	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr13:84453636G>C	ENST00000377084.2	-	1	2892	c.2007C>G	c.(2005-2007)gaC>gaG	p.D669E		NM_001281503.1|NM_052910.1	NP_001268432.1|NP_443142.1	Q96PX8	SLIK1_HUMAN	SLIT and NTRK-like family, member 1	669					adult behavior (GO:0030534)|axonogenesis (GO:0007409)|homeostatic process (GO:0042592)|multicellular organism growth (GO:0035264)	integral component of membrane (GO:0016021)				NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	80	Medulloblastoma(90;0.18)	Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.07)		AGTAGGAAGAGTCACAGACTG	0.537																																						ENST00000377084.2																			0				NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	80						c.(2005-2007)gaC>gaG		SLIT and NTRK-like family, member 1							71	65	67					13																	84453636		2203	4300	6503	SO:0001583	missense	114798					integral to membrane		g.chr13:84453636G>C	AB067497	CCDS9464.1	13q31.1	2004-01-08	2004-01-08		ENSG00000178235	ENSG00000178235			20297	protein-coding gene	gene with protein product		609678	"leucine rich repeat containing 12"	LRRC12		14557068, 12975309	Standard	NM_001281503		Approved	KIAA1910	uc001vlk.3	Q96PX8	OTTHUMG00000017149	ENST00000377084.2:c.2007C>G	13.37:g.84453636G>C	ENSP00000366288:p.Asp669Glu						p.D669E	NM_052910.1	NP_443142.1	Q96PX8	SLIK1_HUMAN		GBM - Glioblastoma multiforme(99;0.07)	1	2892	-	Medulloblastoma(90;0.18)	Breast(118;0.212)	669					Q5U5I6|Q96SF9	Missense_Mutation	SNP	ENST00000377084.2	37	c.2007C>G	CCDS9464.1	.	.	.	.	.	.	.	.	.	.	G	17.16	3.319336	0.60524	.	.	ENSG00000178235	ENST00000377084	T	0.57107	0.42	4.98	4.13	0.48395	.	0.000000	0.85682	D	0.000000	T	0.28995	0.0720	N	0.08118	0	0.45239	D	0.998244	B	0.24882	0.113	B	0.22601	0.04	T	0.09862	-1.0655	10	0.31617	T	0.26	-18.3578	9.0373	0.36296	0.166:0.0:0.834:0.0	.	669	Q96PX8	SLIK1_HUMAN	E	669	ENSP00000366288:D669E	ENSP00000366288:D669E	D	-	3	2	SLITRK1	83351637	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	0.889000	0.28282	2.756000	0.94617	0.655000	0.94253	GAC		0.537	SLITRK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045396.1	NM_052910		4	11	0	0	0	1	0	4	11					C	84453636	G	C	84453636	3	2	435	1	0	0	0	0	1	0	0	0	14742	1020	36	5	87	5	SLITRK1	13	84453636	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	5277006	84453636	30716242	6074	26999											
SLITRK6	84189	broad.mit.edu	37	chr13	86368664	86368664	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgagtggttttatggccataCatgctgtactgaagatgcac	10	13	11	7	0	0	3	0	2	0	1	0	3	0	3	1	2	4	4	1	2	4	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr13:86368664C>A	ENST00000400286.2	-	2	2578	c.1980G>T	c.(1978-1980)atG>atT	p.M660I		NM_032229.2	NP_115605.2	Q9H5Y7	SLIK6_HUMAN	SLIT and NTRK-like family, member 6	660					adult locomotory behavior (GO:0008344)|auditory behavior (GO:0031223)|auditory receptor cell morphogenesis (GO:0002093)|axonogenesis (GO:0007409)|cochlea development (GO:0090102)|innervation (GO:0060384)|lens development in camera-type eye (GO:0002088)|linear vestibuloocular reflex (GO:0060007)|multicellular organism growth (GO:0035264)|sensory perception of sound (GO:0007605)|startle response (GO:0001964)|synapse assembly (GO:0007416)|vestibulocochlear nerve development (GO:0021562)|visual perception (GO:0007601)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(18)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_neural(89;0.117)|Medulloblastoma(90;0.163)			GBM - Glioblastoma multiforme(99;0.0456)		TATGGCCATACATGCTGTACT	0.443																																						ENST00000400286.2																			0				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(18)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						c.(1978-1980)atG>atT		SLIT and NTRK-like family, member 6							190	183	185					13																	86368664		2012	4173	6185	SO:0001583	missense	84189					integral to membrane		g.chr13:86368664C>A	AK026427	CCDS41903.1	13q31.1	2006-04-12			ENSG00000184564	ENSG00000184564			23503	protein-coding gene	gene with protein product		609681				14557068	Standard	NM_032229		Approved	FLJ22774	uc001vll.1	Q9H5Y7	OTTHUMG00000017157	ENST00000400286.2:c.1980G>T	13.37:g.86368664C>A	ENSP00000383143:p.Met660Ile						p.M660I	NM_032229.2	NP_115605.2	Q9H5Y7	SLIK6_HUMAN		GBM - Glioblastoma multiforme(99;0.0456)	2	2578	-	all_neural(89;0.117)|Medulloblastoma(90;0.163)		660					A8K9S8|Q495Q0|Q6AW93|Q9HAA8|Q9NT60	Missense_Mutation	SNP	ENST00000400286.2	37	c.1980G>T	CCDS41903.1	.	.	.	.	.	.	.	.	.	.	C	4.900	0.167319	0.09339	.	.	ENSG00000184564	ENST00000400286	T	0.55052	0.54	5.65	5.65	0.86999	.	0.000000	0.85682	U	0.000000	T	0.40094	0.1103	L	0.41236	1.265	0.50813	D	0.999897	P	0.43788	0.817	B	0.36666	0.23	T	0.41910	-0.9482	10	0.02654	T	1	-12.4395	18.2829	0.90104	0.0:1.0:0.0:0.0	.	660	Q9H5Y7	SLIK6_HUMAN	I	660	ENSP00000383143:M660I	ENSP00000383143:M660I	M	-	3	0	SLITRK6	85266665	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.785000	0.68998	2.656000	0.90262	0.655000	0.94253	ATG		0.443	SLITRK6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045404.2	NM_032229		3	55	1	0	1	1	1	3	55					A	86368664	C	A	86368664	3	1	435	1	0	0	0	0	1	0	0	0	14747	478	17	5	549	5	SLITRK6	13	86368664	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	1915028	86368664	28801214	6075	27000											
DNAJC3	5611	broad.mit.edu	37	chr13	96443194	96443194	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agccagcaaggaggcggcggCaaccctttccacagaagctg	11	4	13	13	2	0	1	0	0	0	1	1	2	1	2	3	4	4	3	3	4	3	1	rs3087338	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr13:96443194C>T	ENST00000602402.1	+	12	1542	c.1425C>T	c.(1423-1425)ggC>ggT	p.G475G	DNAJC3_ENST00000376795.6_Silent_p.G424G	NM_006260.4	NP_006251.1	Q13217	DNJC3_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 3	475					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|defense response to virus (GO:0051607)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of protein kinase activity (GO:0006469)|proteolysis involved in cellular protein catabolic process (GO:0051603)	cytoplasm (GO:0005737)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum Sec complex (GO:0031205)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|vesicle (GO:0031982)	protein kinase inhibitor activity (GO:0004860)			NS(1)|breast(1)|kidney(4)|large_intestine(1)|lung(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.126)			GAGGCGGCGGCAACCCTTTCC	0.438																																						ENST00000602402.1																			0				NS(1)|breast(1)|kidney(4)|large_intestine(1)|lung(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						c.(1423-1425)ggC>ggT		DnaJ (Hsp40) homolog, subfamily C, member 3							99	105	103					13																	96443194		2203	4300	6503	SO:0001819	synonymous_variant	5611				protein folding|response to unfolded protein|response to virus		heat shock protein binding|protein kinase inhibitor activity|unfolded protein binding	g.chr13:96443194C>T	U28424	CCDS9479.1	13q32	2013-01-10			ENSG00000102580	ENSG00000102580		"Heat shock proteins / DNAJ (HSP40)", "Tetratricopeptide (TTC) repeat domain containing"	9439	protein-coding gene	gene with protein product		601184		PRKRI		7511204, 8824806	Standard	NM_006260		Approved	P58, P58IPK, HP58	uc001vmq.3	Q13217	OTTHUMG00000017227	ENST00000602402.1:c.1425C>T	13.37:g.96443194C>T						DNAJC3_ENST00000376795.6_Silent_p.G424G	p.G475G	NM_006260.4	NP_006251.1	Q13217	DNJC3_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.126)		12	1542	+	all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163)		475					Q86WT9|Q8N4N2	Silent	SNP	ENST00000602402.1	37	c.1425C>T	CCDS9479.1																																																																																				0.438	DNAJC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045504.3			34	15	0	0	0	1	0	34	15					T	96443194	C	T	96443194	2	4	435	1	0	0	0	0	0	0	0	1	4647	697	25	3		3	DNAJC3	13	96443194	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	10074530	96443194	18726684	6076	27001											
IPO5	3843	broad.mit.edu	37	chr13	98645159	98645159	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tttctaggcggtaaatgactCgtgctaccagaatgatgatt	11	13	10	7	2	1	4	0	3	1	1	2	4	1	4	1	2	2	2	1	2	5	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr13:98645159C>T	ENST00000490680.1	+	7	748	c.683C>T	c.(682-684)tCg>tTg	p.S228L	IPO5_ENST00000261574.5_Missense_Mutation_p.S246L|IPO5_ENST00000539640.1_Missense_Mutation_p.S103L			O00410	IPO5_HUMAN	importin 5	228					cellular response to amino acid stimulus (GO:0071230)|negative regulation of catalytic activity (GO:0043086)|NLS-bearing protein import into nucleus (GO:0006607)|positive regulation of protein import into nucleus (GO:0042307)|ribosomal protein import into nucleus (GO:0006610)|viral process (GO:0016032)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	GTPase inhibitor activity (GO:0005095)|poly(A) RNA binding (GO:0044822)|protein transporter activity (GO:0008565)|Ran GTPase binding (GO:0008536)			breast(2)|endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	27						GTAAATGACTCGTGCTACCAG	0.408																																						ENST00000261574.5																			0				breast(2)|endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	27						c.(736-738)tCg>tTg		importin 5							139	129	133					13																	98645159		2203	4300	6503	SO:0001583	missense	3843				interspecies interaction between organisms|NLS-bearing substrate import into nucleus|ribosomal protein import into nucleus	cytoplasm|nuclear pore|nucleolus	GTPase inhibitor activity|protein transporter activity|Ran GTPase binding	g.chr13:98645159C>T	U72761	CCDS31999.1	13q32.2	2012-05-02	2008-04-15	2008-04-15	ENSG00000065150	ENSG00000065150		"Importins"	6402	protein-coding gene	gene with protein product		602008	"karyopherin (importin) beta 3", "RAN binding protein 5"	KPNB3, RANBP5		9114010, 9271386, 17005651	Standard	NM_002271		Approved	IMB3, MGC2068, Pse1	uc001vne.3	O00410	OTTHUMG00000017244	ENST00000490680.1:c.683C>T	13.37:g.98645159C>T	ENSP00000418393:p.Ser228Leu					IPO5_ENST00000539640.1_Missense_Mutation_p.S103L|IPO5_ENST00000490680.1_Missense_Mutation_p.S228L	p.S246L	NM_002271.4	NP_002262.3	O00410	IPO5_HUMAN			10	917	+			228					B4DZA0|O15257|Q5T578|Q86XC7	Missense_Mutation	SNP	ENST00000490680.1	37	c.737C>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	27.3|27.3	4.817787|4.817787	0.90790|0.90790	.|.	.|.	ENSG00000065150|ENSG00000065150	ENST00000469360|ENST00000261574;ENST00000357602;ENST00000490680;ENST00000539640	.|T;T;T;T	.|0.70045	.|-0.45;-0.45;-0.45;-0.45	6.17|6.17	5.33|5.33	0.75918|0.75918	.|Armadillo-like helical (1);Armadillo-type fold (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.72574|0.72574	0.3477|0.3477	L|L	0.37630|0.37630	1.12|1.12	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.69078	.|0.997;0.982;0.99	.|P;P;P	.|0.61275	.|0.886;0.656;0.814	T|T	0.75855|0.75855	-0.3170|-0.3170	5|10	.|0.72032	.|D	.|0.01	-26.6872|-26.6872	15.327|15.327	0.74172|0.74172	0.0:0.9337:0.0:0.0663|0.0:0.9337:0.0:0.0663	.|.	.|103;228;246	.|B4E0R6;O00410;O00410-3	.|.;IPO5_HUMAN;.	C|L	230|246;228;228;103	.|ENSP00000261574:S246L;ENSP00000350219:S228L;ENSP00000418393:S228L;ENSP00000445126:S103L	.|ENSP00000261574:S246L	R|S	+|+	1|2	0|0	IPO5|IPO5	97443160|97443160	1.000000|1.000000	0.71417|0.71417	0.899000|0.899000	0.35326|0.35326	0.992000|0.992000	0.81027|0.81027	7.248000|7.248000	0.78268|0.78268	1.620000|1.620000	0.50308|0.50308	0.655000|0.655000	0.94253|0.94253	CGT|TCG		0.408	IPO5-006	NOVEL	alternative_5_UTR|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000354655.1	NM_002271		32	54	0	0	0	1	0	32	54					T	98645159	C	T	98645159	3	4	435	1	0	0	0	0	1	0	0	0	7796	893	31	2	767	2	IPO5	13	98645159	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	2201965	98645159	16524719	6077	27002											
IPO5	3843	broad.mit.edu	37	chr13	98658505	98658505	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atttatgccatcactgaagcAcatcgttgagaatgcggttc	11	12	9	9	2	1	2	1	2	0	1	3	3	1	2	1	1	3	3	1	1	3	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr13:98658505A>G	ENST00000490680.1	+	14	1684	c.1619A>G	c.(1618-1620)cAc>cGc	p.H540R	IPO5_ENST00000261574.5_Missense_Mutation_p.H558R|IPO5_ENST00000493492.2_3'UTR|IPO5_ENST00000539640.1_Missense_Mutation_p.H415R			O00410	IPO5_HUMAN	importin 5	540					cellular response to amino acid stimulus (GO:0071230)|negative regulation of catalytic activity (GO:0043086)|NLS-bearing protein import into nucleus (GO:0006607)|positive regulation of protein import into nucleus (GO:0042307)|ribosomal protein import into nucleus (GO:0006610)|viral process (GO:0016032)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	GTPase inhibitor activity (GO:0005095)|poly(A) RNA binding (GO:0044822)|protein transporter activity (GO:0008565)|Ran GTPase binding (GO:0008536)			breast(2)|endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	27						TCACTGAAGCACATCGTTGAG	0.393																																						ENST00000261574.5																			0				breast(2)|endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	27						c.(1672-1674)cAc>cGc		importin 5							109	105	107					13																	98658505		2203	4300	6503	SO:0001583	missense	3843				interspecies interaction between organisms|NLS-bearing substrate import into nucleus|ribosomal protein import into nucleus	cytoplasm|nuclear pore|nucleolus	GTPase inhibitor activity|protein transporter activity|Ran GTPase binding	g.chr13:98658505A>G	U72761	CCDS31999.1	13q32.2	2012-05-02	2008-04-15	2008-04-15	ENSG00000065150	ENSG00000065150		"Importins"	6402	protein-coding gene	gene with protein product		602008	"karyopherin (importin) beta 3", "RAN binding protein 5"	KPNB3, RANBP5		9114010, 9271386, 17005651	Standard	NM_002271		Approved	IMB3, MGC2068, Pse1	uc001vne.3	O00410	OTTHUMG00000017244	ENST00000490680.1:c.1619A>G	13.37:g.98658505A>G	ENSP00000418393:p.His540Arg					IPO5_ENST00000539640.1_Missense_Mutation_p.H415R|IPO5_ENST00000490680.1_Missense_Mutation_p.H540R|IPO5_ENST00000493492.2_3'UTR	p.H558R	NM_002271.4	NP_002262.3	O00410	IPO5_HUMAN			17	1853	+			540					B4DZA0|O15257|Q5T578|Q86XC7	Missense_Mutation	SNP	ENST00000490680.1	37	c.1673A>G		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	25.1|25.1	4.600756|4.600756	0.87055|0.87055	.|.	.|.	ENSG00000065150|ENSG00000065150	ENST00000261574;ENST00000357602;ENST00000490680;ENST00000539640|ENST00000469360	T;T;T;T|.	0.67698|.	-0.28;-0.28;-0.28;-0.28|.	5.1|5.1	5.1|5.1	0.69264|0.69264	Armadillo-like helical (1);Armadillo-type fold (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.56426|0.56426	0.1984|0.1984	L|L	0.33485|0.33485	1.01|1.01	0.80722|0.80722	D|D	1|1	D;D;D|.	0.61080|.	0.967;0.982;0.989|.	P;P;P|.	0.59115|.	0.714;0.714;0.852|.	T|T	0.53358|0.53358	-0.8450|-0.8450	10|5	0.32370|.	T|.	0.25|.	-7.1365|-7.1365	15.1685|15.1685	0.72850|0.72850	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	415;540;558|.	B4E0R6;O00410;O00410-3|.	.;IPO5_HUMAN;.|.	R|A	558;540;540;415|542	ENSP00000261574:H558R;ENSP00000350219:H540R;ENSP00000418393:H540R;ENSP00000445126:H415R|.	ENSP00000261574:H558R|.	H|T	+|+	2|1	0|0	IPO5|IPO5	97456506|97456506	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.990000|0.990000	0.78478|0.78478	9.191000|9.191000	0.94940|0.94940	2.042000|2.042000	0.60477|0.60477	0.377000|0.377000	0.23210|0.23210	CAC|ACA		0.393	IPO5-006	NOVEL	alternative_5_UTR|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000354655.1	NM_002271		4	88	0	0	0	1	0	4	88					G	98658505	A	G	98658505	3	3	435	1	0	0	0	0	1	0	0	0	7796	159	6	4	1731	4	IPO5	13	98658505	Missense_Mutation	SNP	A	TCGA-XK-AAIW-01A-11D-A41K-08	13346	98658505	16511373	6078	27003											
IPO5	3843	broad.mit.edu	37	chr13	98660391	98660391	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	atgatatggaagatgatgatCctcaggtaagtggtcttaat	13	13	11	4	0	2	4	1	3	1	1	3	5	3	5	1	3	0	1	1	3	4	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr13:98660391C>T	ENST00000490680.1	+	15	1860	c.1795C>T	c.(1795-1797)Cct>Tct	p.P599S	IPO5_ENST00000261574.5_Missense_Mutation_p.P617S|IPO5_ENST00000539640.1_Missense_Mutation_p.P474S			O00410	IPO5_HUMAN	importin 5	599					cellular response to amino acid stimulus (GO:0071230)|negative regulation of catalytic activity (GO:0043086)|NLS-bearing protein import into nucleus (GO:0006607)|positive regulation of protein import into nucleus (GO:0042307)|ribosomal protein import into nucleus (GO:0006610)|viral process (GO:0016032)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	GTPase inhibitor activity (GO:0005095)|poly(A) RNA binding (GO:0044822)|protein transporter activity (GO:0008565)|Ran GTPase binding (GO:0008536)			breast(2)|endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	27						AGATGATGATCCTCAGGTAAG	0.383																																						ENST00000261574.5																			0				breast(2)|endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	27						c.(1849-1851)Cct>Tct		importin 5							170	156	161					13																	98660391		2203	4300	6503	SO:0001583	missense	3843				interspecies interaction between organisms|NLS-bearing substrate import into nucleus|ribosomal protein import into nucleus	cytoplasm|nuclear pore|nucleolus	GTPase inhibitor activity|protein transporter activity|Ran GTPase binding	g.chr13:98660391C>T	U72761	CCDS31999.1	13q32.2	2012-05-02	2008-04-15	2008-04-15	ENSG00000065150	ENSG00000065150		"Importins"	6402	protein-coding gene	gene with protein product		602008	"karyopherin (importin) beta 3", "RAN binding protein 5"	KPNB3, RANBP5		9114010, 9271386, 17005651	Standard	NM_002271		Approved	IMB3, MGC2068, Pse1	uc001vne.3	O00410	OTTHUMG00000017244	ENST00000490680.1:c.1795C>T	13.37:g.98660391C>T	ENSP00000418393:p.Pro599Ser					IPO5_ENST00000539640.1_Missense_Mutation_p.P474S|IPO5_ENST00000490680.1_Missense_Mutation_p.P599S	p.P617S	NM_002271.4	NP_002262.3	O00410	IPO5_HUMAN			18	2029	+			599					B4DZA0|O15257|Q5T578|Q86XC7	Missense_Mutation	SNP	ENST00000490680.1	37	c.1849C>T		.	.	.	.	.	.	.	.	.	.	C	28.0	4.877531	0.91664	.	.	ENSG00000065150	ENST00000261574;ENST00000357602;ENST00000490680;ENST00000539640	T;T;T;T	0.20332	2.08;2.08;2.08;2.08	5.24	5.24	0.73138	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.40932	0.1137	M	0.84433	2.695	0.80722	D	1	P;P;P	0.50443	0.935;0.468;0.846	P;B;B	0.47705	0.555;0.234;0.412	T	0.51012	-0.8759	10	0.72032	D	0.01	-16.8374	18.7784	0.91922	0.0:1.0:0.0:0.0	.	474;599;617	B4E0R6;O00410;O00410-3	.;IPO5_HUMAN;.	S	617;599;599;474	ENSP00000261574:P617S;ENSP00000350219:P599S;ENSP00000418393:P599S;ENSP00000445126:P474S	ENSP00000261574:P617S	P	+	1	0	IPO5	97458392	1.000000	0.71417	0.989000	0.46669	0.908000	0.53690	7.351000	0.79395	2.594000	0.87642	0.563000	0.77884	CCT		0.383	IPO5-006	NOVEL	alternative_5_UTR|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000354655.1	NM_002271		14	26	0	0	0	1	0	14	26					T	98660391	C	T	98660391	3	4	435	1	0	0	0	0	1	0	0	0	7796	855	30	3	1911	3	IPO5	13	98660391	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	1886	98660391	16509487	6079	27004											
FARP1	10160	broad.mit.edu	37	chr13	99091369	99091369	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgattcctccagttcaacgaCgtcctgctatacacgagccg	9	10	8	14	4	1	1	1	1	0	0	4	3	4	1	4	0	4	2	4	0	3	4	rs372343501		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr13:99091369C>T	ENST00000319562.6	+	21	2617	c.2352C>T	c.(2350-2352)gaC>gaT	p.D784D	FARP1_ENST00000376586.2_Silent_p.D815D|FARP1_ENST00000595437.1_Silent_p.D815D	NM_005766.2	NP_005757.1	Q9Y4F1	FARP1_HUMAN	FERM, RhoGEF (ARHGEF) and pleckstrin domain protein 1 (chondrocyte-derived)	784	PH 1. {ECO:0000255|PROSITE- ProRule:PRU00145}.				dendrite morphogenesis (GO:0048813)|negative regulation of phosphatase activity (GO:0010923)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|synapse assembly (GO:0007416)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite (GO:0030425)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|synapse (GO:0045202)	Rac guanyl-nucleotide exchange factor activity (GO:0030676)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(3)|endometrium(6)|kidney(6)|large_intestine(13)|lung(16)|ovary(1)|skin(3)|urinary_tract(1)	49	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.233)			AGTTCAACGACGTCCTGCTAT	0.572													C|||	1	0.000199681	0	0.0014	5008	,	,		18904	0		0	False		,,,				2504	0					ENST00000376586.2																			0				breast(3)|endometrium(6)|kidney(6)|large_intestine(13)|lung(16)|ovary(1)|skin(3)|urinary_tract(1)	49						c.(2443-2445)gaC>gaT		FERM, RhoGEF (ARHGEF) and pleckstrin domain protein 1 (chondrocyte-derived)		C		0,4406		0,0,2203	188	178	182		2352	1.2	1	13		182	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	FARP1	NM_005766.2		0,2,6501	TT,TC,CC		0.0233,0.0,0.0154		784/1046	99091369	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	10160				regulation of Rho protein signal transduction	cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr13:99091369C>T	AB008430	CCDS9487.1, CCDS32000.1, CCDS66572.1	13q32.2	2013-01-10			ENSG00000152767	ENSG00000152767		"Rho guanine nucleotide exchange factors", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "Pleckstrin homology (PH) domain containing"	3591	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 75"	602654				9425278	Standard	NM_005766		Approved	CDEP, PLEKHC2, MGC87400, PPP1R75	uc001vnj.3	Q9Y4F1	OTTHUMG00000017248	ENST00000319562.6:c.2352C>T	13.37:g.99091369C>T						FARP1_ENST00000319562.6_Silent_p.D784D|FARP1_ENST00000595437.1_Silent_p.D815D	p.D815D			Q9Y4F1	FARP1_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.233)		22	2781	+	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		784			PH 1.		Q5JVI9|Q6IQ29	Silent	SNP	ENST00000319562.6	37	c.2445C>T	CCDS9487.1																																																																																				0.572	FARP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045541.3	NM_005766		37	61	0	0	0	1	0	37	61					T	99091369	C	T	99091369	2	4	435	1	0	0	0	0	0	0	0	1	5676	535	19	1		1	FARP1	13	99091369	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	430978	99091369	16078509	6080	27005											
DOCK9	23348	broad.mit.edu	37	chr13	99481631	99481631	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acgtcttcctgagctcgggcGtgctggcataggatttggcc	5	11	14	11	3	1	1	0	1	1	0	3	2	2	2	2	4	2	3	2	4	1	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr13:99481631G>A	ENST00000376460.1	-	43	4906	c.4826C>T	c.(4825-4827)aCg>aTg	p.T1609M	DOCK9-AS1_ENST00000439367.1_RNA|DOCK9_ENST00000448493.2_3'UTR|DOCK9_ENST00000339416.2_Missense_Mutation_p.T1610M	NM_001130048.1|NM_015296.2	NP_001123520.1|NP_056111.1	Q9BZ29	DOCK9_HUMAN	dedicator of cytokinesis 9	1610	DHR-2.				blood coagulation (GO:0007596)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(18)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					GAGCTCGGGCGTGCTGGCATA	0.587																																						ENST00000376460.1																			0				breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(18)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	59						c.(4825-4827)aCg>aTg		dedicator of cytokinesis 9							72	72	72					13																	99481631		2079	4229	6308	SO:0001583	missense	23348				blood coagulation	cytosol|endomembrane system|membrane	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	g.chr13:99481631G>A	AF527605	CCDS45062.1	13q32.3	2013-01-10			ENSG00000088387	ENSG00000088387		"Pleckstrin homology (PH) domain containing"	14132	protein-coding gene	gene with protein product	"zizimin1"	607325				12172552, 12432077	Standard	NM_015296		Approved	KIAA1058, ZIZ1	uc001vnt.2	Q9BZ29	OTTHUMG00000017260	ENST00000376460.1:c.4826C>T	13.37:g.99481631G>A	ENSP00000365643:p.Thr1609Met					DOCK9_ENST00000339416.2_Missense_Mutation_p.T1610M|DOCK9_ENST00000448493.2_3'UTR	p.T1609M	NM_001130048.1|NM_015296.2	NP_001123520.1|NP_056111.1	Q9BZ29	DOCK9_HUMAN			43	4906	-	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		1610			DHR-2.		B3KX25|E9PFM9|Q5JUD4|Q5JUD6|Q5T2Q1|Q5TAN8|Q9BZ25|Q9BZ26|Q9BZ27|Q9BZ28|Q9UPU4	Missense_Mutation	SNP	ENST00000376460.1	37	c.4826C>T	CCDS45062.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	22.2|22.2	4.256892|4.256892	0.80246|0.80246	.|.	.|.	ENSG00000088387|ENSG00000088387	ENST00000419908|ENST00000376460;ENST00000357329;ENST00000376455;ENST00000400235;ENST00000428223;ENST00000400220;ENST00000339416;ENST00000376453;ENST00000340449	.|T;T;T	.|0.69435	.|2.24;2.32;-0.4	5.77|5.77	5.77|5.77	0.91146|0.91146	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.85792|0.85792	0.5779|0.5779	M|M	0.88031|0.88031	2.925|2.925	0.80722|0.80722	D|D	1|1	.|D;D;D;D;D;D;D;D	.|0.89917	.|1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	.|D;D;D;D;D;D;D;D	.|0.87578	.|0.998;0.996;0.987;0.994;0.984;0.973;0.99;0.994	D|D	0.87203|0.87203	0.2242|0.2242	5|10	.|0.87932	.|D	.|0	.|.	20.3626|20.3626	0.98863|0.98863	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|1610;329;253;1609;253;1610;302;252	.|A8MWZ5;B7Z6H5;B7Z2J2;Q9BZ29-5;Q5JUD8;Q9BZ29;B7Z6G9;F5H1Q4	.|.;.;.;.;.;DOCK9_HUMAN;.;.	C|M	27|1609;1610;1602;1610;1609;540;1610;252;253	.|ENSP00000365643:T1609M;ENSP00000341086:T1610M;ENSP00000344702:T253M	.|ENSP00000341086:T1610M	R|T	-|-	1|2	0|0	DOCK9|DOCK9	98279632|98279632	1.000000|1.000000	0.71417|0.71417	0.985000|0.985000	0.45067|0.45067	0.731000|0.731000	0.41821|0.41821	9.315000|9.315000	0.96313|0.96313	2.885000|2.885000	0.99019|0.99019	0.655000|0.655000	0.94253|0.94253	CGC|ACG		0.587	DOCK9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045566.1	NM_015296		8	10	0	0	0	1	0	8	10					A	99481631	G	A	99481631	3	1	435	1	0	0	0	0	1	0	0	0	4694	1145	40	1	1432	1	DOCK9	13	99481631	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	390262	99481631	15688247	6081	27006											
DOCK9	23348	broad.mit.edu	37	chr13	99481710	99481710	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcatgctccttcatctgggCggtggccattagcaccgtgc	5	11	11	14	2	3	0	2	0	1	0	4	0	4	0	3	3	3	2	3	3	1	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr13:99481710C>T	ENST00000376460.1	-	43	4827	c.4747G>A	c.(4747-4749)Gcc>Acc	p.A1583T	DOCK9-AS1_ENST00000439367.1_RNA|DOCK9_ENST00000448493.2_3'UTR|DOCK9_ENST00000339416.2_Missense_Mutation_p.A1584T	NM_001130048.1|NM_015296.2	NP_001123520.1|NP_056111.1	Q9BZ29	DOCK9_HUMAN	dedicator of cytokinesis 9	1584					blood coagulation (GO:0007596)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(18)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					TTCATCTGGGCGGTGGCCATT	0.547																																						ENST00000376460.1																			0				breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(18)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	59						c.(4747-4749)Gcc>Acc		dedicator of cytokinesis 9							85	83	83					13																	99481710		2098	4230	6328	SO:0001583	missense	23348				blood coagulation	cytosol|endomembrane system|membrane	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	g.chr13:99481710C>T	AF527605	CCDS45062.1	13q32.3	2013-01-10			ENSG00000088387	ENSG00000088387		"Pleckstrin homology (PH) domain containing"	14132	protein-coding gene	gene with protein product	"zizimin1"	607325				12172552, 12432077	Standard	NM_015296		Approved	KIAA1058, ZIZ1	uc001vnt.2	Q9BZ29	OTTHUMG00000017260	ENST00000376460.1:c.4747G>A	13.37:g.99481710C>T	ENSP00000365643:p.Ala1583Thr					DOCK9_ENST00000339416.2_Missense_Mutation_p.A1584T|DOCK9_ENST00000448493.2_3'UTR	p.A1583T	NM_001130048.1|NM_015296.2	NP_001123520.1|NP_056111.1	Q9BZ29	DOCK9_HUMAN			43	4827	-	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		1584			DHR-2.		B3KX25|E9PFM9|Q5JUD4|Q5JUD6|Q5T2Q1|Q5TAN8|Q9BZ25|Q9BZ26|Q9BZ27|Q9BZ28|Q9UPU4	Missense_Mutation	SNP	ENST00000376460.1	37	c.4747G>A	CCDS45062.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	34|34	5.373236|5.373236	0.95923|0.95923	.|.	.|.	ENSG00000088387|ENSG00000088387	ENST00000376460;ENST00000357329;ENST00000376455;ENST00000400235;ENST00000428223;ENST00000400220;ENST00000339416;ENST00000376453;ENST00000340449|ENST00000400228	T;T;T|.	0.69175|.	2.3;2.39;-0.38|.	5.77|5.77	5.77|5.77	0.91146|0.91146	.|.	0.052677|.	0.85682|.	D|.	0.000000|.	D|D	0.84624|0.84624	0.5513|0.5513	M|M	0.87547|0.87547	2.89|2.89	0.80722|0.80722	D|D	1|1	D;D;D;D;D;P;D;D|.	0.63880|.	0.991;0.962;0.967;0.984;0.993;0.782;0.967;0.98|.	P;P;P;P;P;B;P;P|.	0.59761|.	0.691;0.734;0.631;0.651;0.863;0.261;0.631;0.796|.	D|D	0.85147|0.85147	0.0984|0.0984	10|5	0.87932|.	D|.	0|.	.|.	20.3627|20.3627	0.98863|0.98863	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	1584;303;227;1583;227;1584;276;226|.	A8MWZ5;B7Z6H5;B7Z2J2;Q9BZ29-5;Q5JUD8;Q9BZ29;B7Z6G9;F5H1Q4|.	.;.;.;.;.;DOCK9_HUMAN;.;.|.	T|H	1583;1584;1576;1584;1583;514;1584;226;227|170	ENSP00000365643:A1583T;ENSP00000341086:A1584T;ENSP00000344702:A227T|.	ENSP00000341086:A1584T|.	A|R	-|-	1|2	0|0	DOCK9|DOCK9	98279711|98279711	1.000000|1.000000	0.71417|0.71417	0.977000|0.977000	0.42913|0.42913	0.996000|0.996000	0.88848|0.88848	5.667000|5.667000	0.68067|0.68067	2.885000|2.885000	0.99019|0.99019	0.655000|0.655000	0.94253|0.94253	GCC|CGC		0.547	DOCK9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045566.1	NM_015296		9	11	0	0	0	1	0	9	11					T	99481710	C	T	99481710	3	4	435	1	0	0	0	0	1	0	0	0	4694	768	27	1	1511	1	DOCK9	13	99481710	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	79	99481710	15688168	6082	27007											
DOCK9	23348	broad.mit.edu	37	chr13	99549847	99549847	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttttgtcaagatttccagatGcatccttaaacaatgtcctg	11	15	6	9	0	1	2	1	0	0	2	4	2	4	2	3	0	2	1	3	0	4	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr13:99549847G>A	ENST00000376460.1	-	15	1684	c.1604C>T	c.(1603-1605)gCa>gTa	p.A535V	DOCK9_ENST00000442173.1_Missense_Mutation_p.A535V|DOCK9_ENST00000448493.2_Missense_Mutation_p.A547V|DOCK9_ENST00000339416.2_Missense_Mutation_p.A536V	NM_001130048.1|NM_015296.2	NP_001123520.1|NP_056111.1	Q9BZ29	DOCK9_HUMAN	dedicator of cytokinesis 9	536					blood coagulation (GO:0007596)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(18)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					ATTTCCAGATGCATCCTTAAA	0.358																																						ENST00000376460.1																			0				breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(18)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	59						c.(1603-1605)gCa>gTa		dedicator of cytokinesis 9							180	174	176					13																	99549847		1864	4098	5962	SO:0001583	missense	23348				blood coagulation	cytosol|endomembrane system|membrane	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	g.chr13:99549847G>A	AF527605	CCDS45062.1	13q32.3	2013-01-10			ENSG00000088387	ENSG00000088387		"Pleckstrin homology (PH) domain containing"	14132	protein-coding gene	gene with protein product	"zizimin1"	607325				12172552, 12432077	Standard	NM_015296		Approved	KIAA1058, ZIZ1	uc001vnt.2	Q9BZ29	OTTHUMG00000017260	ENST00000376460.1:c.1604C>T	13.37:g.99549847G>A	ENSP00000365643:p.Ala535Val					DOCK9_ENST00000339416.2_Missense_Mutation_p.A536V|DOCK9_ENST00000448493.2_Missense_Mutation_p.A547V|DOCK9_ENST00000442173.1_Missense_Mutation_p.A535V	p.A535V	NM_001130048.1|NM_015296.2	NP_001123520.1|NP_056111.1	Q9BZ29	DOCK9_HUMAN			15	1684	-	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		536					B3KX25|E9PFM9|Q5JUD4|Q5JUD6|Q5T2Q1|Q5TAN8|Q9BZ25|Q9BZ26|Q9BZ27|Q9BZ28|Q9UPU4	Missense_Mutation	SNP	ENST00000376460.1	37	c.1604C>T	CCDS45062.1	.	.	.	.	.	.	.	.	.	.	G	14.08	2.428866	0.43122	.	.	ENSG00000088387	ENST00000376460;ENST00000357329;ENST00000376455;ENST00000400235;ENST00000428223;ENST00000339416;ENST00000448493;ENST00000442173	T;T;T;T	0.04194	3.68;3.68;3.68;3.68	5.25	4.41	0.53225	.	0.378338	0.29431	N	0.012171	T	0.06826	0.0174	L	0.54323	1.7	0.40181	D	0.977298	B;B;B;B;B	0.14805	0.002;0.011;0.001;0.004;0.001	B;B;B;B;B	0.14023	0.005;0.01;0.004;0.008;0.005	T	0.19418	-1.0306	9	.	.	.	.	13.8912	0.63740	0.0734:0.0:0.9266:0.0	.	536;535;535;535;536	A6H8Z6;E9PFM9;B3KX25;Q9BZ29-5;Q9BZ29	.;.;.;.;DOCK9_HUMAN	V	535;536;536;536;535;536;547;535	ENSP00000365643:A535V;ENSP00000341086:A536V;ENSP00000401958:A547V;ENSP00000406883:A535V	.	A	-	2	0	DOCK9	98347848	1.000000	0.71417	0.986000	0.45419	0.996000	0.88848	6.312000	0.72840	1.233000	0.43693	0.655000	0.94253	GCA		0.358	DOCK9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045566.1	NM_015296		31	61	0	0	0	1	0	31	61					A	99549847	G	A	99549847	3	1	435	1	0	0	0	0	1	0	0	0	4694	1319	46	3	4831	3	DOCK9	13	99549847	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	68137	99549847	15620031	6083	27008											
GPR18	2841	broad.mit.edu	37	chr13	99907245	99907245	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atgacactaatgactcgagcCtgaaattgttttgaaacgat	14	12	8	7	2	0	4	0	4	0	0	1	6	0	4	1	0	2	1	1	0	3	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr13:99907245C>A	ENST00000340807.3	-	3	1438	c.882G>T	c.(880-882)caG>caT	p.Q294H	UBAC2_ENST00000376440.2_Intron|UBAC2_ENST00000403766.3_Intron|GPR18_ENST00000397470.2_Missense_Mutation_p.Q294H|GPR18_ENST00000397473.2_Missense_Mutation_p.Q294H			Q14330	GPR18_HUMAN	G protein-coupled receptor 18	294					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			endometrium(2)|large_intestine(2)|lung(6)	10	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)				Glycine(DB00145)	TGACTCGAGCCTGAAATTGTT	0.433																																						ENST00000340807.3																			0				endometrium(2)|large_intestine(2)|lung(6)	10						c.(880-882)caG>caT		G protein-coupled receptor 18	Glycine(DB00145)						156	140	146					13																	99907245		2203	4300	6503	SO:0001583	missense	0					integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	g.chr13:99907245C>A	L42324	CCDS9491.1	13q32	2014-01-30			ENSG00000125245	ENSG00000125245		"GPCR / Class A : Orphans"	4472	protein-coding gene	gene with protein product		602042				9205118	Standard	NM_005292		Approved		uc010afv.3	Q14330	OTTHUMG00000017266	ENST00000340807.3:c.882G>T	13.37:g.99907245C>A	ENSP00000343428:p.Gln294His					GPR18_ENST00000397470.2_Missense_Mutation_p.Q294H|UBAC2_ENST00000403766.3_Intron|UBAC2_ENST00000376440.2_Intron|GPR18_ENST00000397473.2_Missense_Mutation_p.Q294H	p.Q294H			Q14330	GPR18_HUMAN			3	1438	-	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		294					Q6GTM3|Q96HI6|Q9H2L2	Missense_Mutation	SNP	ENST00000340807.3	37	c.882G>T	CCDS9491.1	.	.	.	.	.	.	.	.	.	.	C	17.86	3.493390	0.64186	.	.	ENSG00000125245	ENST00000397473;ENST00000397470;ENST00000340807	T;T;T	0.38077	1.16;1.16;1.16	5.97	1.84	0.25277	.	0.000000	0.85682	D	0.000000	T	0.40119	0.1104	N	0.24115	0.695	0.52099	D	0.999947	D	0.89917	1.0	D	0.83275	0.996	T	0.05533	-1.0879	9	.	.	.	-17.1652	9.6082	0.39645	0.0:0.5625:0.0:0.4375	.	294	Q14330	GPR18_HUMAN	H	294	ENSP00000380613:Q294H;ENSP00000380610:Q294H;ENSP00000343428:Q294H	.	Q	-	3	2	GPR18	98705246	1.000000	0.71417	0.999000	0.59377	0.999000	0.98932	3.012000	0.49575	0.086000	0.17137	0.655000	0.94253	CAG		0.433	GPR18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045585.1			24	39	1	0	2.89027e-11	1	3.10618e-11	24	39					A	99907245	C	A	99907245	3	1	435	1	0	0	0	0	1	0	0	0	6675	680	24	5	117	5	GPR18	13	99907245	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	357398	99907245	15262633	6084	27009											
TM9SF2	9375	broad.mit.edu	37	chr13	100206622	100206622	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctgaacagtcgttctacaCgaagcccttgcctggtatta	9	12	8	12	2	1	1	0	1	1	0	3	2	2	1	3	1	4	2	3	1	5	5	rs370181033		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr13:100206622C>T	ENST00000376387.4	+	14	1743	c.1553C>T	c.(1552-1554)aCg>aTg	p.T518M		NM_004800.1	NP_004791.1	Q99805	TM9S2_HUMAN	transmembrane 9 superfamily member 2	518					transport (GO:0006810)	endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)				endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(2)	17	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.218)					TCGTTCTACACGAAGCCCTTG	0.403																																						ENST00000376387.4																			0				endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(2)	17						c.(1552-1554)aCg>aTg		transmembrane 9 superfamily member 2		C	MET/THR	0,4406		0,0,2203	162	153	156		1553	5.9	1	13		156	1,8599	1.2+/-3.3	0,1,4299	no	missense	TM9SF2	NM_004800.1	81	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	518/664	100206622	1,13005	2203	4300	6503	SO:0001583	missense	9375				transport	endosome membrane|integral to plasma membrane		g.chr13:100206622C>T	U81006	CCDS9493.1	13q32.2	2011-03-28			ENSG00000125304	ENSG00000125304			11865	protein-coding gene	gene with protein product		604678				9729438	Standard	NM_004800		Approved	P76	uc001voj.2	Q99805	OTTHUMG00000017272	ENST00000376387.4:c.1553C>T	13.37:g.100206622C>T	ENSP00000365567:p.Thr518Met						p.T518M	NM_004800.1	NP_004791.1	Q99805	TM9S2_HUMAN			14	1743	+	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.218)		518					A8K399|Q2TAY5	Missense_Mutation	SNP	ENST00000376387.4	37	c.1553C>T	CCDS9493.1	.	.	.	.	.	.	.	.	.	.	C	10.24	1.296472	0.23650	0.0	1.16E-4	ENSG00000125304	ENST00000376387	T	0.41758	0.99	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	T	0.32224	0.0822	L	0.31120	0.905	0.80722	D	1	B;B	0.33777	0.425;0.129	B;B	0.33750	0.169;0.169	T	0.12116	-1.0560	10	0.02654	T	1	-14.6307	20.3539	0.98825	0.0:1.0:0.0:0.0	.	484;518	E9PHW5;Q99805	.;TM9S2_HUMAN	M	518	ENSP00000365567:T518M	ENSP00000365567:T518M	T	+	2	0	TM9SF2	99004623	1.000000	0.71417	1.000000	0.80357	0.934000	0.57294	7.619000	0.83057	2.826000	0.97356	0.655000	0.94253	ACG		0.403	TM9SF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045602.3			30	47	0	0	0	1	0	30	47					T	100206622	C	T	100206622	3	4	435	1	0	0	0	0	1	0	0	0	15975	536	19	1	1607	1	TM9SF2	13	100206622	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	299377	100206622	14963256	6085	27010											
PCCA	5095	broad.mit.edu	37	chr13	101077940	101077940	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcacgtggaacctggcttcGcccttattgtctgtcagcgt	6	12	11	12	3	2	0	1	0	1	0	3	1	2	1	2	2	3	2	2	2	2	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr13:101077940G>A	ENST00000376285.1	+	20	1838	c.1800G>A	c.(1798-1800)tcG>tcA	p.S600S	PCCA_ENST00000376279.3_Silent_p.S600S|PCCA_ENST00000376286.4_Silent_p.S574S	NM_000282.3	NP_000273.2	P05165	PCCA_HUMAN	propionyl CoA carboxylase, alpha polypeptide	600					biotin metabolic process (GO:0006768)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|short-chain fatty acid catabolic process (GO:0019626)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial matrix (GO:0005759)	ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin carboxylase activity (GO:0004075)|enzyme binding (GO:0019899)|metal ion binding (GO:0046872)|propionyl-CoA carboxylase activity (GO:0004658)	p.S600S(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(8)|prostate(1)|skin(2)	26	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)				Biotin(DB00121)	ACCTGGCTTCGCCCTTATTGT	0.473																																						ENST00000376285.1																			1	Substitution - coding silent(1)	p.S600S(1)	large_intestine(1)	breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(8)|prostate(1)|skin(2)	26						c.(1798-1800)tcG>tcA		propionyl CoA carboxylase, alpha polypeptide	Biotin(DB00121)						172	145	154					13																	101077940		2203	4300	6503	SO:0001819	synonymous_variant	5095				fatty acid beta-oxidation	mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|enzyme binding|metal ion binding|propionyl-CoA carboxylase activity	g.chr13:101077940G>A	X14608	CCDS9496.2, CCDS45065.1, CCDS53878.1	13q32	2011-01-14	2010-04-30		ENSG00000175198	ENSG00000175198	6.4.1.3		8653	protein-coding gene	gene with protein product		232000	"propionyl Coenzyme A carboxylase, alpha polypeptide"			1427880	Standard	NM_000282		Approved		uc001voo.3	P05165	OTTHUMG00000017284	ENST00000376285.1:c.1800G>A	13.37:g.101077940G>A						PCCA_ENST00000376279.3_Silent_p.S600S|PCCA_ENST00000376286.4_Silent_p.S574S	p.S600S	NM_000282.3	NP_000273.2	P05165	PCCA_HUMAN			20	1838	+	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		600					B4DKY8|B4DPF9|C9JPQ8|Q15979|Q8WXQ7	Silent	SNP	ENST00000376285.1	37	c.1800G>A	CCDS9496.2	.	.	.	.	.	.	.	.	.	.	A	3.163	-0.171672	0.06421	.	.	ENSG00000175198	ENST00000536640;ENST00000458283;ENST00000413170	.	.	.	5.7	-3.02	0.05446	.	.	.	.	.	T	0.50803	0.1637	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.45702	-0.9243	4	.	.	.	.	7.4592	0.27285	0.5451:0.1129:0.342:0.0	.	.	.	.	T	96;53;44	.	.	A	+	1	0	PCCA	99875941	0.939000	0.31865	0.143000	0.22291	0.467000	0.32768	0.072000	0.14617	-0.566000	0.06054	-0.127000	0.14921	GCC		0.473	PCCA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045627.2			6	31	0	0	0	1	0	6	31					A	101077940	G	A	101077940	2	1	435	1	0	0	0	0	0	0	0	1	11504	1074	38	1		1	PCCA	13	101077940	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	871318	101077940	14091938	6086	27011											
TMTC4	84899	broad.mit.edu	37	chr13	101287436	101287436	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gataacgagaaatcccaggcCcagagtaaggatcctggatg	14	6	12	9	1	0	2	0	0	0	2	2	6	2	4	3	3	1	1	3	3	3	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr13:101287436C>T	ENST00000376234.3	-	10	1348	c.1159G>A	c.(1159-1161)Ggc>Agc	p.G387S	TMTC4_ENST00000462211.1_5'UTR|TMTC4_ENST00000342624.5_Missense_Mutation_p.G406S|TMTC4_ENST00000328767.5_Missense_Mutation_p.G276S	NM_001079669.1	NP_001073137.1	Q5T4D3	TMTC4_HUMAN	transmembrane and tetratricopeptide repeat containing 4	387						integral component of membrane (GO:0016021)				breast(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					AATCCCAGGCCCAGAGTAAGG	0.458																																						ENST00000342624.5																			0				breast(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						c.(1216-1218)Ggc>Agc		transmembrane and tetratricopeptide repeat containing 4							31	29	30					13																	101287436		2203	4300	6503	SO:0001583	missense	84899					integral to membrane	binding	g.chr13:101287436C>T		CCDS9497.2, CCDS41904.1, CCDS66575.1	13q32.3	2013-01-10	2006-01-06		ENSG00000125247	ENSG00000125247		"Tetratricopeptide (TTC) repeat domain containing"	25904	protein-coding gene	gene with protein product							Standard	XM_005254082		Approved	FLJ14624, FLJ22153	uc001vot.3	Q5T4D3	OTTHUMG00000017289	ENST00000376234.3:c.1159G>A	13.37:g.101287436C>T	ENSP00000365408:p.Gly387Ser					TMTC4_ENST00000376234.3_Missense_Mutation_p.G387S|TMTC4_ENST00000462211.1_5'UTR|TMTC4_ENST00000328767.5_Missense_Mutation_p.G276S	p.G406S	NM_032813.2	NP_116202.2	Q5T4D3	TMTC4_HUMAN			11	1474	-	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		387					A6NLI7|B7Z666|Q5T4D4|Q5T4D5|Q5T4D6|Q8WV63|Q96SU8	Missense_Mutation	SNP	ENST00000376234.3	37	c.1216G>A	CCDS41904.1	.	.	.	.	.	.	.	.	.	.	C	18.97	3.735561	0.69189	.	.	ENSG00000125247	ENST00000376234;ENST00000342624;ENST00000328767	T;T;T	0.49432	0.78;0.78;0.78	5.4	5.4	0.78164	.	0.048228	0.85682	D	0.000000	T	0.45316	0.1336	L	0.35249	1.045	0.58432	D	0.999999	B;P;P;B	0.46656	0.403;0.882;0.602;0.433	B;P;B;B	0.46362	0.222;0.514;0.208;0.272	T	0.18681	-1.0329	10	0.20519	T	0.43	.	19.2049	0.93726	0.0:1.0:0.0:0.0	.	276;387;387;406	B7Z666;Q5T4D3-2;Q5T4D3;Q5T4D3-3	.;.;TMTC4_HUMAN;.	S	387;406;276	ENSP00000365408:G387S;ENSP00000343871:G406S;ENSP00000365409:G276S	ENSP00000365409:G276S	G	-	1	0	TMTC4	100085437	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	5.800000	0.69108	2.527000	0.85204	0.563000	0.77884	GGC		0.458	TMTC4-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045649.2	NM_032813		3	3	0	0	0	1	0	3	3					T	101287436	C	T	101287436	3	4	435	1	0	0	0	0	1	0	0	0	16260	623	22	3	1102	3	TMTC4	13	101287436	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	209496	101287436	13882442	6087	27012											
NALCN	259232	broad.mit.edu	37	chr13	101742291	101742291	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcatagcgtttcccacattgTcgaaattaaagttccgagga	12	11	9	9	3	0	0	0	0	0	0	3	3	2	1	2	1	1	3	2	1	4	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr13:101742291T>C	ENST00000251127.6	-	29	3377	c.3296A>G	c.(3295-3297)gAc>gGc	p.D1099G		NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	1099					calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|cell death (GO:0008219)|ion transmembrane transport (GO:0034220)|membrane depolarization during action potential (GO:0086010)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium channel activity (GO:0005272)|voltage-gated calcium channel activity (GO:0005245)			NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					TCCCACATTGTCGAAATTAAA	0.463																																						ENST00000251127.6																			0				NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177						c.(3295-3297)gAc>gGc		sodium leak channel, non-selective							229	237	235					13																	101742291		2203	4300	6503	SO:0001583	missense	259232					integral to membrane	sodium channel activity|voltage-gated ion channel activity	g.chr13:101742291T>C	AY141972	CCDS9498.1	13q32.3	2012-02-21	2007-04-26	2007-04-26	ENSG00000102452	ENSG00000102452		"Ion channels / Sodium leak channels, non-selective"	19082	protein-coding gene	gene with protein product		611549	"voltage gated channel like 1"	VGCNL1		17448995	Standard	XM_006719943		Approved	bA430M15.1, CanIon	uc001vox.1	Q8IZF0	OTTHUMG00000017295	ENST00000251127.6:c.3296A>G	13.37:g.101742291T>C	ENSP00000251127:p.Asp1099Gly						p.D1099G	NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN			29	3377	-	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		1099					Q6P2S6|Q6ZMI7|Q8IZZ1|Q8TAH1	Missense_Mutation	SNP	ENST00000251127.6	37	c.3296A>G	CCDS9498.1	.	.	.	.	.	.	.	.	.	.	T	22.5	4.301711	0.81136	.	.	ENSG00000102452	ENST00000251127	D	0.97480	-4.4	5.77	4.57	0.56435	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.98283	0.9431	M	0.82716	2.605	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98621	1.0667	10	0.87932	D	0	.	12.96	0.58453	0.0:0.0:0.1352:0.8648	.	1099	Q8IZF0	NALCN_HUMAN	G	1099	ENSP00000251127:D1099G	ENSP00000251127:D1099G	D	-	2	0	NALCN	100540292	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.606000	0.82863	0.979000	0.38497	0.533000	0.62120	GAC		0.463	NALCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045663.2	NM_052867		98	137	0	0	0	1	0	98	137					C	101742291	T	C	101742291	3	2	435	1	0	0	0	0	1	0	0	0	10148	1667	58	4	1984	4	NALCN	13	101742291	Missense_Mutation	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	454855	101742291	13427587	6088	27013											
KDELC1	79070	broad.mit.edu	37	chr13	103443702	103443702	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acaccaggaaaagatcggatGgatgtttgaattggatttct	13	12	11	5	1	1	2	0	1	1	1	2	6	1	6	1	4	0	1	1	4	3	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr13:103443702G>T	ENST00000376004.4	-	5	1087	c.751C>A	c.(751-753)Cat>Aat	p.H251N	KDELC1_ENST00000460338.1_5'UTR	NM_024089.2	NP_076994.2	Q6UW63	KDEL1_HUMAN	KDEL (Lys-Asp-Glu-Leu) containing 1	251						endoplasmic reticulum lumen (GO:0005788)				central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(1)	19	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					AAGATCGGATGGATGTTTGAA	0.443																																						ENST00000376004.4																			0				central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(1)	19						c.(751-753)Cat>Aat		KDEL (Lys-Asp-Glu-Leu) containing 1							244	257	253					13																	103443702		2203	4300	6503	SO:0001583	missense	79070					endoplasmic reticulum lumen		g.chr13:103443702G>T	BC001297	CCDS9504.1	13q33	2010-11-18			ENSG00000134901	ENSG00000134901			19350	protein-coding gene	gene with protein product		611613					Standard	NM_024089		Approved	MGC5302, EP58	uc001vpq.4	Q6UW63	OTTHUMG00000017307	ENST00000376004.4:c.751C>A	13.37:g.103443702G>T	ENSP00000365172:p.His251Asn					KDELC1_ENST00000460338.1_5'UTR	p.H251N	NM_024089.2	NP_076994.2	Q6UW63	KDEL1_HUMAN			5	1087	-	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)		251					Q53HL3|Q9BVD2	Missense_Mutation	SNP	ENST00000376004.4	37	c.751C>A	CCDS9504.1	.	.	.	.	.	.	.	.	.	.	G	12.82	2.051557	0.36181	.	.	ENSG00000134901	ENST00000376004	T	0.21361	2.01	5.87	5.02	0.67125	.	0.197889	0.53938	D	0.000048	T	0.21387	0.0515	L	0.51422	1.61	0.43103	D	0.994797	B	0.27316	0.175	B	0.24701	0.055	T	0.02743	-1.1116	10	0.27785	T	0.31	.	14.7142	0.69254	0.0687:0.0:0.9313:0.0	.	251	Q6UW63	KDEL1_HUMAN	N	251	ENSP00000365172:H251N	ENSP00000365172:H251N	H	-	1	0	KDELC1	102241703	1.000000	0.71417	1.000000	0.80357	0.883000	0.51084	6.524000	0.73791	1.499000	0.48617	0.650000	0.86243	CAT		0.443	KDELC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045699.1			26	211	1	0	3.73808e-20	1	4.14251e-20	26	211					T	103443702	G	T	103443702	3	4	435	1	0	0	0	0	1	0	0	0	8117	1348	47	5	781	5	KDELC1	13	103443702	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	1701411	103443702	11726176	6089	27014											
EFNB2	1948	broad.mit.edu	37	chr13	107145456	107145456	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gacgatgtacaccgggtgccCgtagtcgccgctgaccttct	6	9	12	14	5	1	1	0	1	1	0	2	3	1	1	4	1	2	3	4	1	2	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr13:107145456C>T	ENST00000245323.4	-	5	1083	c.934G>A	c.(934-936)Ggg>Agg	p.G312R		NM_004093.3	NP_004084.1	P52799	EFNB2_HUMAN	ephrin-B2	312					anatomical structure morphogenesis (GO:0009653)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cell migration involved in sprouting angiogenesis (GO:0002042)|cell-cell signaling (GO:0007267)|ephrin receptor signaling pathway (GO:0048013)|lymph vessel development (GO:0001945)|negative regulation of keratinocyte proliferation (GO:0010839)|organ morphogenesis (GO:0009887)|positive regulation of cardiac muscle cell differentiation (GO:2000727)|regulation of chemotaxis (GO:0050920)|viral process (GO:0016032)	focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ephrin receptor binding (GO:0046875)			haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(7)|ovary(1)|skin(1)	13	Lung NSC(43;0.015)|all_neural(89;0.0741)|Lung SC(71;0.14)|Medulloblastoma(90;0.169)					ACCGGGTGCCCGTAGTCGCCG	0.597																																						ENST00000245323.4																			0				haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(7)|ovary(1)|skin(1)	13						c.(934-936)Ggg>Agg		ephrin-B2							84	70	75					13																	107145456		2203	4300	6503	SO:0001583	missense	1948				cell differentiation|cell-cell signaling|interspecies interaction between organisms|nervous system development	integral to plasma membrane	ephrin receptor binding	g.chr13:107145456C>T	L38734	CCDS9507.1	13q33	2011-03-09			ENSG00000125266	ENSG00000125266		"Ephrins"	3227	protein-coding gene	gene with protein product	"HTK ligand", "ligand of eph-related kinase 5", "eph-related receptor tyrosine kinase ligand 5"	600527		EPLG5		7833926	Standard	NM_004093		Approved	LERK5, Htk-L, HTKL, MGC126226, MGC126227, MGC126228	uc001vqi.3	P52799	OTTHUMG00000017324	ENST00000245323.4:c.934G>A	13.37:g.107145456C>T	ENSP00000245323:p.Gly312Arg						p.G312R	NM_004093.3	NP_004084.1	P52799	EFNB2_HUMAN			5	1083	-	Lung NSC(43;0.015)|all_neural(89;0.0741)|Lung SC(71;0.14)|Medulloblastoma(90;0.169)		312					Q5JV56	Missense_Mutation	SNP	ENST00000245323.4	37	c.934G>A	CCDS9507.1	.	.	.	.	.	.	.	.	.	.	C	35	5.497064	0.96355	.	.	ENSG00000125266	ENST00000245323	D	0.95069	-3.6	5.81	5.81	0.92471	.	0.045275	0.85682	D	0.000000	D	0.97145	0.9067	M	0.71206	2.165	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.97249	0.9896	10	0.87932	D	0	.	20.0826	0.97783	0.0:1.0:0.0:0.0	.	312	P52799	EFNB2_HUMAN	R	312	ENSP00000245323:G312R	ENSP00000245323:G312R	G	-	1	0	EFNB2	105943457	1.000000	0.71417	0.998000	0.56505	0.978000	0.69477	7.755000	0.85180	2.746000	0.94184	0.655000	0.94253	GGG		0.597	EFNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045733.4	NM_004093		18	19	0	0	0	1	0	18	19					T	107145456	C	T	107145456	3	4	435	1	0	0	0	0	1	0	0	0	4956	652	23	2	71	2	EFNB2	13	107145456	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	3701754	107145456	8024422	6090	27015											
FAM155A	728215	broad.mit.edu	37	chr13	108518288	108518288	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caaaacgaaaggtaaaaatcCgacaagttccagagcggagt	18	5	10	8	3	0	1	0	0	0	1	2	4	2	2	2	2	2	2	2	2	7	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr13:108518288C>T	ENST00000375915.2	-	1	795	c.657G>A	c.(655-657)tcG>tcA	p.S219S		NM_001080396.2	NP_001073865.1	B1AL88	F155A_HUMAN	family with sequence similarity 155, member A	219						integral component of membrane (GO:0016021)				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						GGTAAAAATCCGACAAGTTCC	0.577																																						ENST00000375915.2																			0				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						c.(655-657)tcG>tcA		family with sequence similarity 155, member A							88	98	95					13																	108518288		2203	4300	6503	SO:0001819	synonymous_variant	728215					integral to membrane	binding	g.chr13:108518288C>T	L10374	CCDS32006.1	13q33.3	2008-04-15			ENSG00000204442	ENSG00000204442			33877	protein-coding gene	gene with protein product							Standard	NM_001080396		Approved		uc001vql.3	B1AL88	OTTHUMG00000017326	ENST00000375915.2:c.657G>A	13.37:g.108518288C>T							p.S219S	NM_001080396.2	NP_001073865.1	B1AL88	F155A_HUMAN			1	795	-			219					B2RUV1|B7Z334	Silent	SNP	ENST00000375915.2	37	c.657G>A	CCDS32006.1																																																																																				0.577	FAM155A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045736.2	NM_001080396		28	39	0	0	0	1	0	28	39					T	108518288	C	T	108518288	2	4	435	1	0	0	0	0	0	0	0	1	5465	639	23	2		2	FAM155A	13	108518288	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	1372832	108518288	6651590	6091	27016											
LIG4	3981	broad.mit.edu	37	chr13	108861786	108861786	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tatataaaggtgtttagatgCgagcttaccagatgccttcc	11	13	9	8	1	0	2	0	0	0	2	1	3	1	2	3	1	4	2	3	1	6	7	rs187323251		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr13:108861786C>T	ENST00000356922.4	-	2	2103	c.1831G>A	c.(1831-1833)Gca>Aca	p.A611T	LIG4_ENST00000405925.1_Missense_Mutation_p.A611T|LIG4_ENST00000442234.1_Missense_Mutation_p.A611T	NM_002312.3|NM_206937.1	NP_002303.2|NP_996820.1	P49917	DNLI4_HUMAN	ligase IV, DNA, ATP-dependent	611					cell cycle (GO:0007049)|cell division (GO:0051301)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|chromosome organization (GO:0051276)|DNA biosynthetic process (GO:0071897)|DNA ligation (GO:0006266)|DNA ligation involved in DNA recombination (GO:0051102)|DNA ligation involved in DNA repair (GO:0051103)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|establishment of integrated proviral latency (GO:0075713)|in utero embryonic development (GO:0001701)|isotype switching (GO:0045190)|lagging strand elongation (GO:0006273)|negative regulation of neuron apoptotic process (GO:0043524)|neuron apoptotic process (GO:0051402)|nucleotide-excision repair, DNA gap filling (GO:0006297)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of neurogenesis (GO:0050769)|pro-B cell differentiation (GO:0002328)|response to gamma radiation (GO:0010332)|response to X-ray (GO:0010165)|single strand break repair (GO:0000012)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)|T cell receptor V(D)J recombination (GO:0033153)|V(D)J recombination (GO:0033151)|viral process (GO:0016032)	condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|DNA ligase IV complex (GO:0032807)|DNA-dependent protein kinase-DNA ligase 4 complex (GO:0005958)|focal adhesion (GO:0005925)|nonhomologous end joining complex (GO:0070419)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA ligase (ATP) activity (GO:0003910)|DNA ligase activity (GO:0003909)|ligase activity (GO:0016874)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42	all_lung(23;0.000238)|all_neural(89;0.00256)|Lung NSC(43;0.0056)|Medulloblastoma(90;0.00596)|Lung SC(71;0.104)					TGTTTAGATGCGAGCTTACCA	0.423								Non-homologous end-joining					C|||	1	0.000199681	8e-04	0	5008	,	,		18243	0		0	False		,,,				2504	0					ENST00000356922.4																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						c.(1831-1833)Gca>Aca	Non-homologous end-joining	ligase IV, DNA, ATP-dependent							91	90	90					13																	108861786		2203	4300	6503	SO:0001583	missense	3981				cell cycle|cell division|cell proliferation|central nervous system development|chromosome organization|DNA ligation involved in DNA recombination|DNA ligation involved in DNA repair|DNA replication|double-strand break repair via nonhomologous end joining|in utero embryonic development|initiation of viral infection|isotype switching|negative regulation of neuron apoptosis|neuron apoptosis|nucleotide-excision repair, DNA gap filling|positive regulation of fibroblast proliferation|positive regulation of neurogenesis|pro-B cell differentiation|provirus integration|response to gamma radiation|response to X-ray|single strand break repair|somatic stem cell maintenance|T cell differentiation in thymus|T cell receptor V(D)J recombination	condensed chromosome|cytoplasm|DNA ligase IV complex|DNA-dependent protein kinase-DNA ligase 4 complex|focal adhesion|nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding|protein C-terminus binding	g.chr13:108861786C>T	X83441	CCDS9508.1	13q33-q34	2014-09-17			ENSG00000174405	ENSG00000174405	6.5.1.1		6601	protein-coding gene	gene with protein product	"polydeoxyribonucleotide synthase [ATP] 4", "polynucleotide ligase", "sealase", "DNA repair enzyme", "DNA joinase"	601837				7760816	Standard	NM_001098268		Approved		uc001vqo.3	P49917	OTTHUMG00000017328	ENST00000356922.4:c.1831G>A	13.37:g.108861786C>T	ENSP00000349393:p.Ala611Thr					LIG4_ENST00000405925.1_Missense_Mutation_p.A611T|LIG4_ENST00000442234.1_Missense_Mutation_p.A611T	p.A611T	NM_002312.3|NM_206937.1	NP_002303.2|NP_996820.1	P49917	DNLI4_HUMAN			2	2103	-	all_lung(23;0.000238)|all_neural(89;0.00256)|Lung NSC(43;0.0056)|Medulloblastoma(90;0.00596)|Lung SC(71;0.104)		611					Q8IY66|Q8TEU5	Missense_Mutation	SNP	ENST00000356922.4	37	c.1831G>A	CCDS9508.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	11.03	1.518032	0.27211	.	.	ENSG00000174405	ENST00000405925;ENST00000442234;ENST00000356922	T;T;T	0.62788	0.0;0.0;0.0	5.74	5.74	0.90152	.	0.000000	0.85682	D	0.000000	T	0.56187	0.1968	M	0.62723	1.935	0.80722	D	1	P	0.39352	0.669	B	0.30401	0.115	T	0.56745	-0.7928	10	0.13108	T	0.6	.	18.907	0.92466	0.0:1.0:0.0:0.0	.	611	P49917	DNLI4_HUMAN	T	611	ENSP00000385955:A611T;ENSP00000402030:A611T;ENSP00000349393:A611T	ENSP00000349393:A611T	A	-	1	0	LIG4	107659787	1.000000	0.71417	0.350000	0.25708	0.100000	0.18952	7.424000	0.80242	2.697000	0.92050	0.551000	0.68910	GCA		0.423	LIG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045738.4	NM_002312		28	40	0	0	0	1	0	28	40					T	108861786	C	T	108861786	3	4	435	1	0	0	0	0	1	0	0	0	8783	768	27	1	908	1	LIG4	13	108861786	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	343498	108861786	6308092	6092	27017											
LIG4	3981	broad.mit.edu	37	chr13	108862959	108862959	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cctacagactttttccagatCtgtagtgacattatgcaact	11	14	6	10	0	1	3	0	1	1	2	2	3	2	3	2	0	3	2	2	0	4	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr13:108862959C>T	ENST00000356922.4	-	2	930	c.658G>A	c.(658-660)Gat>Aat	p.D220N	LIG4_ENST00000405925.1_Missense_Mutation_p.D220N|LIG4_ENST00000442234.1_Missense_Mutation_p.D220N	NM_002312.3|NM_206937.1	NP_002303.2|NP_996820.1	P49917	DNLI4_HUMAN	ligase IV, DNA, ATP-dependent	220					cell cycle (GO:0007049)|cell division (GO:0051301)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|chromosome organization (GO:0051276)|DNA biosynthetic process (GO:0071897)|DNA ligation (GO:0006266)|DNA ligation involved in DNA recombination (GO:0051102)|DNA ligation involved in DNA repair (GO:0051103)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|establishment of integrated proviral latency (GO:0075713)|in utero embryonic development (GO:0001701)|isotype switching (GO:0045190)|lagging strand elongation (GO:0006273)|negative regulation of neuron apoptotic process (GO:0043524)|neuron apoptotic process (GO:0051402)|nucleotide-excision repair, DNA gap filling (GO:0006297)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of neurogenesis (GO:0050769)|pro-B cell differentiation (GO:0002328)|response to gamma radiation (GO:0010332)|response to X-ray (GO:0010165)|single strand break repair (GO:0000012)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)|T cell receptor V(D)J recombination (GO:0033153)|V(D)J recombination (GO:0033151)|viral process (GO:0016032)	condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|DNA ligase IV complex (GO:0032807)|DNA-dependent protein kinase-DNA ligase 4 complex (GO:0005958)|focal adhesion (GO:0005925)|nonhomologous end joining complex (GO:0070419)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA ligase (ATP) activity (GO:0003910)|DNA ligase activity (GO:0003909)|ligase activity (GO:0016874)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42	all_lung(23;0.000238)|all_neural(89;0.00256)|Lung NSC(43;0.0056)|Medulloblastoma(90;0.00596)|Lung SC(71;0.104)					TTTTCCAGATCTGTAGTGACA	0.358								Non-homologous end-joining																														ENST00000356922.4																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						c.(658-660)Gat>Aat	Non-homologous end-joining	ligase IV, DNA, ATP-dependent							56	54	55					13																	108862959		2203	4298	6501	SO:0001583	missense	3981				cell cycle|cell division|cell proliferation|central nervous system development|chromosome organization|DNA ligation involved in DNA recombination|DNA ligation involved in DNA repair|DNA replication|double-strand break repair via nonhomologous end joining|in utero embryonic development|initiation of viral infection|isotype switching|negative regulation of neuron apoptosis|neuron apoptosis|nucleotide-excision repair, DNA gap filling|positive regulation of fibroblast proliferation|positive regulation of neurogenesis|pro-B cell differentiation|provirus integration|response to gamma radiation|response to X-ray|single strand break repair|somatic stem cell maintenance|T cell differentiation in thymus|T cell receptor V(D)J recombination	condensed chromosome|cytoplasm|DNA ligase IV complex|DNA-dependent protein kinase-DNA ligase 4 complex|focal adhesion|nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding|protein C-terminus binding	g.chr13:108862959C>T	X83441	CCDS9508.1	13q33-q34	2014-09-17			ENSG00000174405	ENSG00000174405	6.5.1.1		6601	protein-coding gene	gene with protein product	"polydeoxyribonucleotide synthase [ATP] 4", "polynucleotide ligase", "sealase", "DNA repair enzyme", "DNA joinase"	601837				7760816	Standard	NM_001098268		Approved		uc001vqo.3	P49917	OTTHUMG00000017328	ENST00000356922.4:c.658G>A	13.37:g.108862959C>T	ENSP00000349393:p.Asp220Asn					LIG4_ENST00000405925.1_Missense_Mutation_p.D220N|LIG4_ENST00000442234.1_Missense_Mutation_p.D220N	p.D220N	NM_002312.3|NM_206937.1	NP_002303.2|NP_996820.1	P49917	DNLI4_HUMAN			2	930	-	all_lung(23;0.000238)|all_neural(89;0.00256)|Lung NSC(43;0.0056)|Medulloblastoma(90;0.00596)|Lung SC(71;0.104)		220					Q8IY66|Q8TEU5	Missense_Mutation	SNP	ENST00000356922.4	37	c.658G>A	CCDS9508.1	.	.	.	.	.	.	.	.	.	.	C	9.854	1.194593	0.22037	.	.	ENSG00000174405	ENST00000405925;ENST00000442234;ENST00000356922	D;D;D	0.85773	-2.03;-2.03;-2.03	5.68	4.84	0.62591	DNA ligase, ATP-dependent, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.82360	0.5020	L	0.45051	1.395	0.80722	D	1	P	0.40250	0.709	P	0.44897	0.463	T	0.78513	-0.2175	10	0.19590	T	0.45	.	13.6837	0.62502	0.0:0.9261:0.0:0.0739	.	220	P49917	DNLI4_HUMAN	N	220	ENSP00000385955:D220N;ENSP00000402030:D220N;ENSP00000349393:D220N	ENSP00000349393:D220N	D	-	1	0	LIG4	107660960	1.000000	0.71417	0.957000	0.39632	0.848000	0.48234	7.424000	0.80242	1.412000	0.46977	0.643000	0.83706	GAT		0.358	LIG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045738.4	NM_002312		26	51	0	0	0	1	0	26	51					T	108862959	C	T	108862959	3	4	435	1	0	0	0	0	1	0	0	0	8783	913	32	3	2081	3	LIG4	13	108862959	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	1173	108862959	6306919	6093	27018											
MYO16	23026	broad.mit.edu	37	chr13	109779684	109779684	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cccagctccatgtcagtctgCgcggccgtggatggcctggg	4	8	15	14	3	2	0	1	0	1	0	3	1	3	1	4	4	2	1	4	4	0	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr13:109779684C>T	ENST00000357550.2	+	30	3812	c.3771C>T	c.(3769-3771)tgC>tgT	p.C1257C	MYO16_ENST00000457511.2_Silent_p.C769C|MYO16_ENST00000356711.2_Silent_p.C1257C	NM_001198950.1	NP_001185879.1			myosin XVI											NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			TGTCAGTCTGCGCGGCCGTGG	0.607																																						ENST00000356711.2																			0				NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121						c.(3769-3771)tgC>tgT		myosin XVI							55	45	49					13																	109779684		2203	4300	6503	SO:0001819	synonymous_variant	23026				cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle	myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane	actin filament binding|ATP binding|motor activity	g.chr13:109779684C>T		CCDS32008.1, CCDS73598.1	13q33.3	2014-06-12			ENSG00000041515	ENSG00000041515		"Myosins / Myosin superfamily : Class XVI", "Ankyrin repeat domain containing"	29822	protein-coding gene	gene with protein product	"neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 3", "protein phosphatase 1, regulatory subunit 107"	615479				11588169, 17029291, 21946561	Standard	NM_001198950		Approved	MYR8, KIAA0865, Myo16b, NYAP3, PPP1R107	uc001vqt.1	Q9Y6X6	OTTHUMG00000017333	ENST00000357550.2:c.3771C>T	13.37:g.109779684C>T						MYO16_ENST00000357550.2_Silent_p.C1257C|MYO16_ENST00000457511.2_Silent_p.C769C	p.C1257C	NM_015011.1	NP_055826.1	Q9Y6X6	MYO16_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)		31	3897	+	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		1257						Silent	SNP	ENST00000357550.2	37	c.3771C>T	CCDS32008.1																																																																																				0.607	MYO16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045746.1	NM_015011		5	6	0	0	0	1	0	5	6					T	109779684	C	T	109779684	2	4	435	1	0	0	0	0	0	0	0	1	10064	776	27	1		1	MYO16	13	109779684	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	916725	109779684	5390194	6094	27019											
COL4A2	1284	broad.mit.edu	37	chr13	111080821	111080821	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctctttcccagggacaccCggggcaaggtgggcccaggg	6	6	15	14	1	1	0	0	0	1	0	3	1	2	1	3	6	0	1	3	6	1	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr13:111080821C>T	ENST00000360467.5	+	7	674	c.368C>T	c.(367-369)cCg>cTg	p.P123L		NM_001846.2	NP_001837.2	P08572	CO4A2_HUMAN	collagen, type IV, alpha 2	123					angiogenesis (GO:0001525)|axon guidance (GO:0007411)|cellular response to transforming growth factor beta stimulus (GO:0071560)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of angiogenesis (GO:0016525)|transcription, DNA-templated (GO:0006351)	collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)	extracellular matrix structural constituent (GO:0005201)			NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	80	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)			CAGGGACACCCGGGGCAAGGT	0.582																																						ENST00000360467.5																			0				NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						c.(367-369)cCg>cTg		collagen, type IV, alpha 2							40	47	45					13																	111080821		1903	4109	6012	SO:0001583	missense	1284				angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis	collagen type IV	extracellular matrix structural constituent|protein binding	g.chr13:111080821C>T	AK025912	CCDS41907.1	13q34	2013-09-05			ENSG00000134871	ENSG00000134871		"Collagens"	2203	protein-coding gene	gene with protein product	"canstatin", "collagen type IV alpha 2"	120090				2439508, 3025878	Standard	NM_001846		Approved	FLJ22259, DKFZp686I14213	uc001vqx.3	P08572	OTTHUMG00000017344	ENST00000360467.5:c.368C>T	13.37:g.111080821C>T	ENSP00000353654:p.Pro123Leu						p.P123L	NM_001846.2	NP_001837.2	P08572	CO4A2_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)		7	674	+	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	123					Q14052|Q548C3|Q5VZA9|Q66K23	Missense_Mutation	SNP	ENST00000360467.5	37	c.368C>T	CCDS41907.1	.	.	.	.	.	.	.	.	.	.	C	14.07	2.426704	0.43020	.	.	ENSG00000134871	ENST00000360467;ENST00000257309	D	0.96685	-4.09	4.99	4.99	0.66335	.	0.000000	0.50627	D	0.000113	D	0.98289	0.9433	M	0.86343	2.81	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	D	0.99004	1.0812	10	0.56958	D	0.05	.	18.3092	0.90193	0.0:1.0:0.0:0.0	.	123	P08572	CO4A2_HUMAN	L	123	ENSP00000353654:P123L	ENSP00000257309:P123L	P	+	2	0	COL4A2	109878822	1.000000	0.71417	0.731000	0.30826	0.146000	0.21551	5.837000	0.69381	2.304000	0.77564	0.655000	0.94253	CCG		0.582	COL4A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045761.2	NM_001846		13	34	0	0	0	1	0	13	34					T	111080821	C	T	111080821	3	4	435	1	0	0	0	0	1	0	0	0	3690	652	23	2	390	2	COL4A2	13	111080821	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	1301137	111080821	4089057	6095	27020											
CARKD	55739	broad.mit.edu	37	chr13	111279791	111279791	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctttccttctttagtgacaGccccaatgctgttcatgagg	7	14	8	12	0	2	2	1	2	1	0	3	2	3	2	4	1	2	2	4	1	2	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr13:111279791G>A	ENST00000309957.2	+	5	406	c.392G>A	c.(391-393)aGc>aAc	p.S131N	CARKD_ENST00000458711.2_Intron|CARKD_ENST00000424185.2_Missense_Mutation_p.S21N|CARKD_ENST00000397191.4_Missense_Mutation_p.S68N|CARKD_ENST00000470164.2_3'UTR	NM_001242881.1|NM_018210.3	NP_001229810.1|NP_060680.2			carbohydrate kinase domain containing											NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)	15						TTTAGTGACAGCCCCAATGCT	0.443																																						ENST00000309957.2																			0				NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)	15						c.(391-393)aGc>aAc		carbohydrate kinase domain containing							117	98	105					13																	111279791		2203	4300	6503	SO:0001583	missense	55739							g.chr13:111279791G>A	AF151071	CCDS9513.1, CCDS55903.1	13q34	2008-12-19			ENSG00000213995	ENSG00000213995			25576	protein-coding gene	gene with protein product		615910					Standard	NM_018210		Approved	LP3298, FLJ10769	uc001vrc.3	Q8IW45	OTTHUMG00000017345	ENST00000309957.2:c.392G>A	13.37:g.111279791G>A	ENSP00000311984:p.Ser131Asn					CARKD_ENST00000424185.2_Missense_Mutation_p.S21N|CARKD_ENST00000397191.4_Missense_Mutation_p.S68N|CARKD_ENST00000470164.2_3'UTR|CARKD_ENST00000458711.2_Intron	p.S131N	NM_001242881.1|NM_018210.3	NP_001229810.1|NP_060680.2	Q8IW45	CARKD_HUMAN			5	406	+			131			YjeF C-terminal.			Missense_Mutation	SNP	ENST00000309957.2	37	c.392G>A	CCDS9513.1	.	.	.	.	.	.	.	.	.	.	G	13.14	2.149173	0.37923	.	.	ENSG00000213995	ENST00000424185;ENST00000439607;ENST00000397191;ENST00000309957	T;T;T	0.23552	1.92;1.9;2.0	5.13	4.29	0.51040	Uncharacterised domain, carbohydrate kinase-related (3);	0.187213	0.56097	N	0.000029	T	0.37812	0.1017	M	0.62723	1.935	0.42411	D	0.9926	B;B;P;B;B	0.48998	0.099;0.202;0.918;0.257;0.129	B;B;P;B;B	0.54856	0.107;0.091;0.762;0.146;0.063	T	0.14420	-1.0473	10	0.49607	T	0.09	-25.8531	9.0633	0.36447	0.1711:0.0:0.8289:0.0	.	21;113;68;131;131	Q8IW45-4;B4DKX7;B7Z3Q0;Q8IW45-2;Q8IW45	.;.;.;.;CARKD_HUMAN	N	21;113;68;131	ENSP00000413191:S21N;ENSP00000380375:S68N;ENSP00000311984:S131N	ENSP00000311984:S131N	S	+	2	0	CARKD	110077792	1.000000	0.71417	0.914000	0.36105	0.027000	0.11550	4.977000	0.63792	1.150000	0.42419	-0.258000	0.10820	AGC		0.443	CARKD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045764.1	NM_018210		32	53	0	0	0	1	0	32	53					A	111279791	G	A	111279791	3	1	435	1	0	0	0	0	1	0	0	0	2654	971	34	3	410	3	CARKD	13	111279791	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	198970	111279791	3890087	6096	27021											
CARS2	79587	broad.mit.edu	37	chr13	111357885	111357885	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caccaagcatggccaaggtgCgcatgatcatatacagttgg	12	8	11	10	1	1	1	1	1	0	0	1	1	1	1	2	3	3	3	2	3	4	3	rs553318183		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr13:111357885C>T	ENST00000257347.4	-	2	321	c.258G>A	c.(256-258)gcG>gcA	p.A86A	CARS2_ENST00000535398.1_Intron	NM_024537.2	NP_078813.1	Q9HA77	SYCM_HUMAN	cysteinyl-tRNA synthetase 2, mitochondrial (putative)	86					cysteinyl-tRNA aminoacylation (GO:0006423)|gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|cysteine-tRNA ligase activity (GO:0004817)|metal ion binding (GO:0046872)			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(2)|prostate(4)|skin(1)	13	all_lung(23;3.61e-05)|Lung NSC(43;0.00144)|Lung SC(71;0.0753)|all_neural(89;0.077)|Medulloblastoma(90;0.148)		BRCA - Breast invasive adenocarcinoma(86;0.163)		L-Cysteine(DB00151)	GGCCAAGGTGCGCATGATCAT	0.368																																						ENST00000257347.4																			0				autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(2)|prostate(4)|skin(1)	13						c.(256-258)gcG>gcA		cysteinyl-tRNA synthetase 2, mitochondrial (putative)	L-Cysteine(DB00151)						90	83	85					13																	111357885		2203	4300	6503	SO:0001819	synonymous_variant	79587				cysteinyl-tRNA aminoacylation	cytosol|mitochondrial matrix	ATP binding|cysteine-tRNA ligase activity|metal ion binding	g.chr13:111357885C>T	BC007220	CCDS9514.1	13q34	2011-07-01	2007-02-22		ENSG00000134905	ENSG00000134905	6.1.1.16	"Aminoacyl tRNA synthetases / Class I"	25695	protein-coding gene	gene with protein product	"cysteine tRNA ligase 2, mitochondrial (putative)"	612800				15779907	Standard	NM_024537		Approved	FLJ12118	uc001vrd.2	Q9HA77	OTTHUMG00000017347	ENST00000257347.4:c.258G>A	13.37:g.111357885C>T						CARS2_ENST00000535398.1_Intron	p.A86A	NM_024537.2	NP_078813.1	Q9HA77	SYCM_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.163)		2	321	-	all_lung(23;3.61e-05)|Lung NSC(43;0.00144)|Lung SC(71;0.0753)|all_neural(89;0.077)|Medulloblastoma(90;0.148)		86					Q8NI84|Q96IV4	Silent	SNP	ENST00000257347.4	37	c.258G>A	CCDS9514.1																																																																																				0.368	CARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045772.3	NM_024537		18	35	0	0	0	1	0	18	35					T	111357885	C	T	111357885	2	4	435	1	0	0	0	0	0	0	0	1	2658	755	27	1		1	CARS2	13	111357885	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	78094	111357885	3811993	6097	27022											
ING1	3621	broad.mit.edu	37	chr13	111371749	111371749	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agctggtggagaaccgcacgCggcaggtggacagccacgtg	9	4	17	11	4	0	1	0	0	0	1	0	3	0	2	2	5	3	3	2	5	1	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr13:111371749C>T	ENST00000375774.3	+	2	1201	c.739C>T	c.(739-741)Cgg>Tgg	p.R247W	ING1_ENST00000333219.7_Missense_Mutation_p.R104W|ING1_ENST00000338450.7_Missense_Mutation_p.R60W|ING1_ENST00000464141.1_3'UTR|ING1_ENST00000375775.3_Missense_Mutation_p.R35W	NM_005537.4	NP_005528.3	Q9UK53	ING1_HUMAN	inhibitor of growth family, member 1	247					cell cycle (GO:0007049)|chromatin modification (GO:0016568)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|positive regulation of transcription, DNA-templated (GO:0045893)|protein import into nucleus (GO:0006606)|regulation of cell death (GO:0010941)	nucleus (GO:0005634)	methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)			endometrium(4)|large_intestine(6)|lung(1)|ovary(1)	12	all_lung(23;3.61e-05)|Lung NSC(43;0.00144)|Lung SC(71;0.0753)|all_neural(89;0.077)|Medulloblastoma(90;0.148)		BRCA - Breast invasive adenocarcinoma(86;0.188)			GAACCGCACGCGGCAGGTGGA	0.677																																						ENST00000375774.3																			0				endometrium(4)|large_intestine(6)|lung(1)|ovary(1)	12						c.(739-741)Cgg>Tgg		inhibitor of growth family, member 1							37	47	44					13																	111371749		2203	4299	6502	SO:0001583	missense	3621				cell cycle|negative regulation of cell growth|negative regulation of cell proliferation	nucleus	zinc ion binding	g.chr13:111371749C>T		CCDS9515.1, CCDS9516.1, CCDS9517.1, CCDS9518.1	13q34	2013-01-28			ENSG00000153487	ENSG00000153487		"Zinc fingers, PHD-type"	6062	protein-coding gene	gene with protein product	"inhibitor of growth 1", "tumor suppressor ING1", "growth inhibitor ING1", "growth inhibitory protein ING1"	601566				8944021, 9186514	Standard	NM_198219		Approved	p33ING1, p33ING1b, p24ING1c, p33, p47, p47ING1a	uc001vri.3	Q9UK53	OTTHUMG00000017346	ENST00000375774.3:c.739C>T	13.37:g.111371749C>T	ENSP00000364929:p.Arg247Trp					ING1_ENST00000333219.7_Missense_Mutation_p.R104W|ING1_ENST00000375775.3_Missense_Mutation_p.R35W|ING1_ENST00000464141.1_3'UTR|ING1_ENST00000338450.7_Missense_Mutation_p.R60W	p.R247W	NM_005537.4	NP_005528.3	Q9UK53	ING1_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.188)		2	1201	+	all_lung(23;3.61e-05)|Lung NSC(43;0.00144)|Lung SC(71;0.0753)|all_neural(89;0.077)|Medulloblastoma(90;0.148)		247					O00532|O43658|Q53ZR3|Q5T9G8|Q5T9G9|Q5T9H0|Q5T9H1|Q9H007|Q9HD98|Q9HD99|Q9NS83|Q9P0U6|Q9UBC6|Q9UIJ1|Q9UIJ2|Q9UIJ3|Q9UIJ4|Q9UK52	Missense_Mutation	SNP	ENST00000375774.3	37	c.739C>T	CCDS9517.1	.	.	.	.	.	.	.	.	.	.	C	13.17	2.156049	0.38021	.	.	ENSG00000153487	ENST00000338450;ENST00000333219;ENST00000375775;ENST00000375774	T;T;T	0.42513	0.97;0.97;0.97	5.46	-7.01	0.01594	Inhibitor of growth protein, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.61751	0.2372	M	0.80616	2.505	0.45822	D	0.998695	D;D;D	0.89917	1.0;0.999;1.0	D;P;D	0.83275	0.996;0.877;0.995	T	0.73151	-0.4073	10	0.72032	D	0.01	-41.9298	19.7422	0.96237	0.2624:0.7376:0.0:0.0	.	247;104;60	Q9UK53;Q5T9H0;Q9UK53-4	ING1_HUMAN;.;.	W	60;104;35;247	ENSP00000345202:R60W;ENSP00000328436:R104W;ENSP00000364929:R247W	ENSP00000328436:R104W	R	+	1	2	ING1	110169750	0.956000	0.32656	0.005000	0.12908	0.230000	0.25150	2.131000	0.42074	-1.017000	0.03367	-0.500000	0.04577	CGG		0.677	ING1-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000045770.2	NM_005537		22	25	0	0	0	1	0	22	25					T	111371749	C	T	111371749	3	4	435	1	0	0	0	0	1	0	0	0	7735	759	27	1	893	1	ING1	13	111371749	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	13864	111371749	3798129	6098	27023											
TUBGCP3	10426	broad.mit.edu	37	chr13	113208477	113208477	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctgactgctgtgtctctcAaagacctacttagatttgcc	8	13	8	12	0	2	3	1	1	1	2	3	3	2	3	3	0	3	1	3	0	3	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr13:113208477A>G	ENST00000261965.3	-	8	1046	c.860T>C	c.(859-861)tTg>tCg	p.L287S	TUBGCP3_ENST00000375669.3_Missense_Mutation_p.L287S	NM_006322.4	NP_006313.1	Q96CW5	GCP3_HUMAN	tubulin, gamma complex associated protein 3	287					G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)|single fertilization (GO:0007338)	centriole (GO:0005814)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|polar microtubule (GO:0005827)|spindle (GO:0005819)	gamma-tubulin binding (GO:0043015)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|urinary_tract(1)	25	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)					TGTGTCTCTCAAAGACCTACT	0.388																																						ENST00000261965.3																			0				central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|urinary_tract(1)	25						c.(859-861)tTg>tCg		tubulin, gamma complex associated protein 3							79	77	78					13																	113208477		2203	4300	6503	SO:0001583	missense	10426				G2/M transition of mitotic cell cycle|microtubule nucleation|single fertilization	centriole|cytosol|polar microtubule	gamma-tubulin binding|structural constituent of cytoskeleton	g.chr13:113208477A>G	AF042378	CCDS9525.1, CCDS66584.1, CCDS73599.1	13q34	2008-07-18			ENSG00000126216	ENSG00000126216			18598	protein-coding gene	gene with protein product	"spindle pole body protein"					9566967, 9566969	Standard	XM_005268293		Approved	GCP3, Spc98p, SPBC98	uc001vse.1	Q96CW5	OTTHUMG00000017367	ENST00000261965.3:c.860T>C	13.37:g.113208477A>G	ENSP00000261965:p.Leu287Ser					TUBGCP3_ENST00000375669.3_Missense_Mutation_p.L287S	p.L287S	NM_006322.4	NP_006313.1	Q96CW5	GCP3_HUMAN			8	1046	-	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)		287					O43631|O60852|O60853|Q5T8L2|Q7Z4K1|Q96I79	Missense_Mutation	SNP	ENST00000261965.3	37	c.860T>C	CCDS9525.1	.	.	.	.	.	.	.	.	.	.	A	8.575	0.881067	0.17467	.	.	ENSG00000126216	ENST00000261965;ENST00000375669	T;T	0.11930	2.73;2.73	5.0	5.0	0.66597	.	0.262591	0.32002	N	0.006721	T	0.13200	0.0320	N	0.20986	0.625	0.58432	D	0.999997	B;P;B;B	0.44659	0.274;0.84;0.232;0.274	B;P;B;B	0.44647	0.18;0.456;0.113;0.18	T	0.06232	-1.0838	10	0.39692	T	0.17	-16.1743	14.7722	0.69688	1.0:0.0:0.0:0.0	.	277;287;287;287	B4DYP7;Q96CW5-3;Q96CW5-2;Q96CW5	.;.;.;GCP3_HUMAN	S	287	ENSP00000261965:L287S;ENSP00000364821:L287S	ENSP00000261965:L287S	L	-	2	0	TUBGCP3	112256478	1.000000	0.71417	0.979000	0.43373	0.850000	0.48378	8.341000	0.90046	1.887000	0.54652	0.367000	0.22151	TTG		0.388	TUBGCP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045825.2	NM_006322		24	23	0	0	0	1	0	24	23					G	113208477	A	G	113208477	3	3	435	1	0	0	0	0	1	0	0	0	16764	131	5	4	1923	4	TUBGCP3	13	113208477	Missense_Mutation	SNP	A	TCGA-XK-AAIW-01A-11D-A41K-08	1836728	113208477	1961401	6099	27024											
ATP11A	23250	broad.mit.edu	37	chr13	113478730	113478730	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	aaaatctcagaagcgatctgCcgtggaaaagtaaggctgga	15	7	12	7	2	2	1	1	0	2	1	3	4	2	3	1	3	2	2	1	3	6	1	rs376242436		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr13:113478730C>T	ENST00000487903.1	+	10	951	c.863C>T	c.(862-864)gCc>gTc	p.A288V	ATP11A_ENST00000375630.2_Missense_Mutation_p.A288V|ATP11A_ENST00000283558.8_Missense_Mutation_p.A288V|ATP11A_ENST00000375645.3_Missense_Mutation_p.A288V			P98196	AT11A_HUMAN	ATPase, class VI, type 11A	288					phospholipid translocation (GO:0045332)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(12)|lung(17)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	51	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_lung(25;0.134)|all_epithelial(44;0.141)				AAGCGATCTGCCGTGGAAAAG	0.448																																						ENST00000487903.1																			0				NS(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(12)|lung(17)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	51						c.(862-864)gCc>gTc		ATPase, class VI, type 11A		C	VAL/ALA,VAL/ALA	1,4405	2.1+/-5.4	0,1,2202	91	89	90		863,863	4.8	1	13		90	0,8600		0,0,4300	no	missense,missense	ATP11A	NM_032189.3,NM_015205.2	64,64	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign,benign	288/1192,288/1135	113478730	1,13005	2203	4300	6503	SO:0001583	missense	23250				ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr13:113478730C>T	AB028944	CCDS32011.1	13q34	2010-04-20	2007-09-19		ENSG00000068650	ENSG00000068650	3.6.3.1	"ATPases / P-type"	13552	protein-coding gene	gene with protein product	"potential phospholipid-transporting ATPase IH", "phospholipid-translocating ATPase"	605868	"ATPase, Class VI, type 11A"			11015572	Standard	NM_032189		Approved	ATPIH, ATPIS, KIAA1021	uc001vsj.4	P98196	OTTHUMG00000017371	ENST00000487903.1:c.863C>T	13.37:g.113478730C>T	ENSP00000420387:p.Ala288Val					ATP11A_ENST00000375630.2_Missense_Mutation_p.A288V|ATP11A_ENST00000283558.8_Missense_Mutation_p.A288V|ATP11A_ENST00000375645.3_Missense_Mutation_p.A288V	p.A288V			P98196	AT11A_HUMAN			10	951	+	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_lung(25;0.134)|all_epithelial(44;0.141)	288					Q5VXT2	Missense_Mutation	SNP	ENST00000487903.1	37	c.863C>T	CCDS32011.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.49|15.49	2.849054|2.849054	0.51270|0.51270	2.27E-4|2.27E-4	0.0|0.0	ENSG00000068650|ENSG00000068650	ENST00000487903;ENST00000375630;ENST00000375645;ENST00000283558|ENST00000418678	D;D;D;D|.	0.88586|.	-2.4;-2.4;-2.4;-2.4|.	4.77|4.77	4.77|4.77	0.60923|0.60923	ATPase, P-type, ATPase-associated domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.72930|0.72930	0.3522|0.3522	M|M	0.63428|0.63428	1.95|1.95	0.80722|0.80722	D|D	1|1	B;B;B|.	0.21753|.	0.06;0.005;0.0|.	B;B;B|.	0.23574|.	0.047;0.033;0.02|.	T|T	0.72286|0.72286	-0.4338|-0.4338	10|5	0.51188|.	T|.	0.08|.	.|.	18.1714|18.1714	0.89746|0.89746	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	288;288;288|.	E9PCW5;E9PEJ6;P98196|.	.;.;AT11A_HUMAN|.	V|S	288|263	ENSP00000420387:A288V;ENSP00000364781:A288V;ENSP00000364796:A288V;ENSP00000283558:A288V|.	ENSP00000283558:A288V|.	A|P	+|+	2|1	0|0	ATP11A|ATP11A	112526731|112526731	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.207000|0.207000	0.24258|0.24258	5.706000|5.706000	0.68362|0.68362	2.349000|2.349000	0.79799|0.79799	0.455000|0.455000	0.32223|0.32223	GCC|CCG		0.448	ATP11A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000045834.3	NM_015205		27	28	0	0	0	1	0	27	28					T	113478730	C	T	113478730	3	4	435	1	0	0	0	0	1	0	0	0	1119	739	26	3	901	3	ATP11A	13	113478730	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	270253	113478730	1691148	6100	27025											
ATP11A	23250	broad.mit.edu	37	chr13	113479755	113479755	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttgttttagatcgatgaatgCgttcctcattgtgtatctct	7	19	8	7	2	2	2	1	1	1	1	5	3	3	2	1	0	1	3	1	0	3	6			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr13:113479755C>T	ENST00000487903.1	+	11	972	c.884C>T	c.(883-885)gCg>gTg	p.A295V	ATP11A_ENST00000375630.2_Missense_Mutation_p.A295V|ATP11A_ENST00000283558.8_Missense_Mutation_p.A295V|ATP11A_ENST00000375645.3_Missense_Mutation_p.A295V			P98196	AT11A_HUMAN	ATPase, class VI, type 11A	295					phospholipid translocation (GO:0045332)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(12)|lung(17)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	51	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_lung(25;0.134)|all_epithelial(44;0.141)				TCGATGAATGCGTTCCTCATT	0.473																																						ENST00000487903.1																			0				NS(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(12)|lung(17)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	51						c.(883-885)gCg>gTg		ATPase, class VI, type 11A							140	107	118					13																	113479755		2203	4300	6503	SO:0001583	missense	23250				ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr13:113479755C>T	AB028944	CCDS32011.1	13q34	2010-04-20	2007-09-19		ENSG00000068650	ENSG00000068650	3.6.3.1	"ATPases / P-type"	13552	protein-coding gene	gene with protein product	"potential phospholipid-transporting ATPase IH", "phospholipid-translocating ATPase"	605868	"ATPase, Class VI, type 11A"			11015572	Standard	NM_032189		Approved	ATPIH, ATPIS, KIAA1021	uc001vsj.4	P98196	OTTHUMG00000017371	ENST00000487903.1:c.884C>T	13.37:g.113479755C>T	ENSP00000420387:p.Ala295Val					ATP11A_ENST00000375630.2_Missense_Mutation_p.A295V|ATP11A_ENST00000283558.8_Missense_Mutation_p.A295V|ATP11A_ENST00000375645.3_Missense_Mutation_p.A295V	p.A295V			P98196	AT11A_HUMAN			11	972	+	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_lung(25;0.134)|all_epithelial(44;0.141)	295					Q5VXT2	Missense_Mutation	SNP	ENST00000487903.1	37	c.884C>T	CCDS32011.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	3.539|3.539	-0.094156|-0.094156	0.07053|0.07053	.|.	.|.	ENSG00000068650|ENSG00000068650	ENST00000487903;ENST00000375630;ENST00000375645;ENST00000283558|ENST00000418678	D;D;D;D|.	0.90620|.	-2.7;-2.7;-2.7;-2.7|.	5.2|5.2	-2.2|-2.2	0.06994|0.06994	ATPase, P-type, ATPase-associated domain (1);|.	0.426190|.	0.26959|.	N|.	0.021628|.	T|T	0.24198|0.24198	0.0586|0.0586	N|N	0.12182|0.12182	0.205|0.205	0.24690|0.24690	N|N	0.993312|0.993312	B;B;B|.	0.11235|.	0.004;0.002;0.0|.	B;B;B|.	0.16722|.	0.016;0.005;0.003|.	T|T	0.31138|0.31138	-0.9954|-0.9954	10|5	0.10111|.	T|.	0.7|.	.|.	11.4733|11.4733	0.50282|0.50282	0.0:0.5067:0.0:0.4933|0.0:0.5067:0.0:0.4933	.|.	295;295;295|.	E9PCW5;E9PEJ6;P98196|.	.;.;AT11A_HUMAN|.	V|C	295|270	ENSP00000420387:A295V;ENSP00000364781:A295V;ENSP00000364796:A295V;ENSP00000283558:A295V|.	ENSP00000283558:A295V|.	A|R	+|+	2|1	0|0	ATP11A|ATP11A	112527756|112527756	0.169000|0.169000	0.23002|0.23002	0.025000|0.025000	0.17156|0.17156	0.026000|0.026000	0.11368|0.11368	0.325000|0.325000	0.19628|0.19628	-0.072000|-0.072000	0.12864|0.12864	-0.459000|-0.459000	0.05422|0.05422	GCG|CGT		0.473	ATP11A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000045834.3	NM_015205		22	41	0	0	0	1	0	22	41					T	113479755	C	T	113479755	3	4	435	1	0	0	0	0	1	0	0	0	1119	768	27	1	926	1	ATP11A	13	113479755	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	1025	113479755	1690123	6101	27026											
ATP11A	23250	broad.mit.edu	37	chr13	113487330	113487330	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggtggcgctggtcgaaggtGtccagaggtacgtcgcgggc	6	7	19	9	5	0	1	0	0	0	1	3	2	1	1	1	6	1	2	1	6	2	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr13:113487330G>A	ENST00000487903.1	+	14	1640	c.1552G>A	c.(1552-1554)Gtc>Atc	p.V518I	ATP11A_ENST00000375630.2_Missense_Mutation_p.V518I|ATP11A_ENST00000283558.8_Missense_Mutation_p.V518I|ATP11A_ENST00000375645.3_Missense_Mutation_p.V518I			P98196	AT11A_HUMAN	ATPase, class VI, type 11A	518					phospholipid translocation (GO:0045332)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(12)|lung(17)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	51	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_lung(25;0.134)|all_epithelial(44;0.141)				GGTCGAAGGTGTCCAGAGGTA	0.627																																						ENST00000487903.1																			0				NS(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(12)|lung(17)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	51						c.(1552-1554)Gtc>Atc		ATPase, class VI, type 11A							104	112	109					13																	113487330		2203	4300	6503	SO:0001583	missense	23250				ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr13:113487330G>A	AB028944	CCDS32011.1	13q34	2010-04-20	2007-09-19		ENSG00000068650	ENSG00000068650	3.6.3.1	"ATPases / P-type"	13552	protein-coding gene	gene with protein product	"potential phospholipid-transporting ATPase IH", "phospholipid-translocating ATPase"	605868	"ATPase, Class VI, type 11A"			11015572	Standard	NM_032189		Approved	ATPIH, ATPIS, KIAA1021	uc001vsj.4	P98196	OTTHUMG00000017371	ENST00000487903.1:c.1552G>A	13.37:g.113487330G>A	ENSP00000420387:p.Val518Ile					ATP11A_ENST00000375630.2_Missense_Mutation_p.V518I|ATP11A_ENST00000283558.8_Missense_Mutation_p.V518I|ATP11A_ENST00000375645.3_Missense_Mutation_p.V518I	p.V518I			P98196	AT11A_HUMAN			14	1640	+	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_lung(25;0.134)|all_epithelial(44;0.141)	518					Q5VXT2	Missense_Mutation	SNP	ENST00000487903.1	37	c.1552G>A	CCDS32011.1	.	.	.	.	.	.	.	.	.	.	G	9.383	1.073491	0.20147	.	.	ENSG00000068650	ENST00000487903;ENST00000375630;ENST00000375645;ENST00000283558	T;T;T;T	0.62941	-0.01;-0.01;-0.01;-0.01	5.71	-7.82	0.01205	ATPase, cation-transporting, domain N (1);HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	0.521161	0.22235	N	0.062777	T	0.40743	0.1129	N	0.12746	0.255	0.20196	N	0.999922	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.10450	0.002;0.005;0.003	T	0.01684	-1.1296	10	0.59425	D	0.04	.	19.4759	0.94989	0.7785:0.0:0.2215:0.0	.	518;518;518	E9PCW5;E9PEJ6;P98196	.;.;AT11A_HUMAN	I	518	ENSP00000420387:V518I;ENSP00000364781:V518I;ENSP00000364796:V518I;ENSP00000283558:V518I	ENSP00000283558:V518I	V	+	1	0	ATP11A	112535331	0.001000	0.12720	0.000000	0.03702	0.117000	0.20001	0.052000	0.14163	-1.711000	0.01395	-0.997000	0.02515	GTC		0.627	ATP11A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000045834.3	NM_015205		36	63	0	0	0	1	0	36	63					A	113487330	G	A	113487330	3	1	435	1	0	0	0	0	1	0	0	0	1119	1377	48	3	1606	3	ATP11A	13	113487330	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	7575	113487330	1682548	6102	27027											
ATP11A	23250	broad.mit.edu	37	chr13	113512221	113512221	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtcagcatgattctggaagcGcacgtgggcataggtgagct	9	9	15	8	2	2	2	1	2	1	0	2	3	2	3	0	3	3	4	0	3	2	2	rs141765090		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr13:113512221G>A	ENST00000487903.1	+	21	2596	c.2508G>A	c.(2506-2508)gcG>gcA	p.A836A	ATP11A_ENST00000375630.2_Silent_p.A836A|ATP11A_ENST00000283558.8_Silent_p.A836A|ATP11A_ENST00000375645.3_Silent_p.A836A			P98196	AT11A_HUMAN	ATPase, class VI, type 11A	836					phospholipid translocation (GO:0045332)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(12)|lung(17)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	51	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_lung(25;0.134)|all_epithelial(44;0.141)				TTCTGGAAGCGCACGTGGGCA	0.493																																						ENST00000487903.1																			0				NS(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(12)|lung(17)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	51						c.(2506-2508)gcG>gcA		ATPase, class VI, type 11A		G	,	0,4406		0,0,2203	158	145	149		2508,2508	-1.9	0.7	13	dbSNP_134	149	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous,coding-synonymous	ATP11A	NM_015205.2,NM_032189.3	,	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	,	836/1135,836/1192	113512221	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	23250				ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr13:113512221G>A	AB028944	CCDS32011.1	13q34	2010-04-20	2007-09-19		ENSG00000068650	ENSG00000068650	3.6.3.1	"ATPases / P-type"	13552	protein-coding gene	gene with protein product	"potential phospholipid-transporting ATPase IH", "phospholipid-translocating ATPase"	605868	"ATPase, Class VI, type 11A"			11015572	Standard	NM_032189		Approved	ATPIH, ATPIS, KIAA1021	uc001vsj.4	P98196	OTTHUMG00000017371	ENST00000487903.1:c.2508G>A	13.37:g.113512221G>A						ATP11A_ENST00000375630.2_Silent_p.A836A|ATP11A_ENST00000283558.8_Silent_p.A836A|ATP11A_ENST00000375645.3_Silent_p.A836A	p.A836A			P98196	AT11A_HUMAN			21	2596	+	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_lung(25;0.134)|all_epithelial(44;0.141)	836					Q5VXT2	Silent	SNP	ENST00000487903.1	37	c.2508G>A	CCDS32011.1	.	.	.	.	.	.	.	.	.	.	G	10.81	1.455773	0.26161	0.0	2.33E-4	ENSG00000068650	ENST00000418678	.	.	.	5.32	-1.94	0.07571	.	.	.	.	.	T	0.53238	0.1784	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.46428	-0.9192	4	.	.	.	.	8.3323	0.32193	0.3271:0.3367:0.3362:0.0	.	.	.	.	H	811	.	.	R	+	2	0	ATP11A	112560222	0.549000	0.26481	0.665000	0.29768	0.990000	0.78478	-0.190000	0.09615	-0.529000	0.06358	-0.165000	0.13383	CGC		0.493	ATP11A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000045834.3	NM_015205		11	58	0	0	0	1	0	11	58					A	113512221	G	A	113512221	2	1	435	1	0	0	0	0	0	0	0	1	1119	1074	38	1		1	ATP11A	13	113512221	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	24891	113512221	1657657	6103	27028											
MCF2L	23263	broad.mit.edu	37	chr13	113741739	113741739	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tggggaggggtatgagaaagCtccctcctacagctacaagc	11	7	13	10	0	0	1	0	1	0	1	2	3	2	2	2	4	5	3	2	4	5	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr13:113741739C>A	ENST00000375608.3	+	23	2712	c.2654C>A	c.(2653-2655)gCt>gAt	p.A885D	MCF2L_ENST00000421756.1_Missense_Mutation_p.A859D|MCF2L_ENST00000434480.2_Missense_Mutation_p.A861D|MCF2L_ENST00000535094.2_Missense_Mutation_p.A855D|MCF2L_ENST00000375597.4_Missense_Mutation_p.A853D|MCF2L_ENST00000442652.2_Missense_Mutation_p.A885D|MCF2L_ENST00000375601.3_Missense_Mutation_p.A859D|MCF2L_ENST00000423482.2_Missense_Mutation_p.A853D|MCF2L_ENST00000375604.2_Missense_Mutation_p.A912D|MCF2L_ENST00000397030.1_Missense_Mutation_p.A888D			O15068	MCF2L_HUMAN	MCF.2 cell line derived transforming sequence-like	885	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|extracellular space (GO:0005615)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)	1-phosphatidylinositol binding (GO:0005545)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			kidney(1)|large_intestine(5)|ovary(1)|stomach(1)	8	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0368)|all_epithelial(44;0.0396)|Lung NSC(25;0.129)|Breast(118;0.188)				TATGAGAAAGCTCCCTCCTAC	0.592																																						ENST00000397030.1																			0				kidney(1)|large_intestine(5)|ovary(1)|stomach(1)	8						c.(2662-2664)gCt>gAt		MCF.2 cell line derived transforming sequence-like							53	44	47					13																	113741739		2203	4299	6502	SO:0001583	missense	23263				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	Rho guanyl-nucleotide exchange factor activity	g.chr13:113741739C>A	AB002360	CCDS9527.2, CCDS45070.1, CCDS9527.3, CCDS45070.2	13q34	2013-01-10			ENSG00000126217	ENSG00000126217		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	14576	protein-coding gene	gene with protein product		609499				9205841	Standard	NM_001112732		Approved	KIAA0362, DBS, OST, ARHGEF14	uc010tjr.2	O15068	OTTHUMG00000017377	ENST00000375608.3:c.2654C>A	13.37:g.113741739C>A	ENSP00000364758:p.Ala885Asp					MCF2L_ENST00000442652.2_Missense_Mutation_p.A885D|MCF2L_ENST00000421756.1_Missense_Mutation_p.A859D|MCF2L_ENST00000375597.4_Missense_Mutation_p.A853D|MCF2L_ENST00000375608.3_Missense_Mutation_p.A885D|MCF2L_ENST00000535094.2_Missense_Mutation_p.A855D|MCF2L_ENST00000434480.2_Missense_Mutation_p.A861D|MCF2L_ENST00000375604.2_Missense_Mutation_p.A912D|MCF2L_ENST00000375601.3_Missense_Mutation_p.A859D|MCF2L_ENST00000423482.2_Missense_Mutation_p.A853D	p.A888D			O15068	MCF2L_HUMAN			22	2700	+	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0368)|all_epithelial(44;0.0396)|Lung NSC(25;0.129)|Breast(118;0.188)	885			PH.		A2A2X1|A2A2X2|A2A3G6|A2A3G8|B4DHD6|B4DIL6|E9PDN8|Q5JU56|Q5VXT1|Q6ZWD4|Q765G8|Q765G9|Q8N679	Missense_Mutation	SNP	ENST00000375608.3	37	c.2663C>A		.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	C|C|C	16.32|16.32|16.32	3.091180|3.091180|3.091180	0.55968|0.55968|0.55968	.|.|.	.|.|.	ENSG00000126217|ENSG00000126217|ENSG00000126217	ENST00000375608;ENST00000442652;ENST00000375604;ENST00000397030;ENST00000535094;ENST00000421756;ENST00000375601;ENST00000434480;ENST00000423482;ENST00000375597;ENST00000440749|ENST00000413354;ENST00000261963|ENST00000397017;ENST00000453297	T;T;T;T;T;T;T;T;T;T|.|.	0.75367|.|.	2.28;2.28;2.28;2.28;2.28;2.28;2.28;2.28;2.28;-0.93|.|.	4.57|4.57|4.57	4.57|4.57|4.57	0.56435|0.56435|0.56435	Pleckstrin homology-type (1);Pleckstrin homology domain (3);|.|.	0.000000|.|.	0.85682|.|.	D|.|.	0.000000|.|.	T|T|T	0.72301|0.72301|0.72301	0.3443|0.3443|0.3443	L|L|L	0.61218|0.61218|0.61218	1.895|1.895|1.895	0.80722|0.80722|0.80722	D|D|D	1|1|1	D;D;D;D;D|.|.	0.89917|.|.	0.993;0.993;0.993;1.0;0.995|.|.	P;P;P;D;P|.|.	0.87578|.|.	0.752;0.752;0.811;0.998;0.84|.|.	T|T|T	0.71998|0.71998|0.71998	-0.4423|-0.4423|-0.4423	10|5|5	0.45353|.|.	T|.|.	0.12|.|.	.|.|.	17.729|17.729|17.729	0.88372|0.88372|0.88372	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.|.	853;855;912;853;885|.|.	E9PDN8;O15068-9;G5E9A1;O15068-4;O15068|.|.	.;.;.;.;MCF2L_HUMAN|.|.	D|I|R	885;885;912;888;855;859;859;861;853;853;696|85;26|515;9	ENSP00000364758:A885D;ENSP00000401422:A885D;ENSP00000364754:A912D;ENSP00000380225:A888D;ENSP00000440374:A855D;ENSP00000397285:A859D;ENSP00000364751:A859D;ENSP00000407722:A861D;ENSP00000405639:A853D;ENSP00000364747:A853D|.|.	ENSP00000364747:A853D|.|.	A|L|S	+|+|+	2|1|3	0|0|2	MCF2L|MCF2L|MCF2L	112789740|112789740|112789740	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	0.862000|0.862000|0.862000	0.33874|0.33874|0.33874	0.013000|0.013000|0.013000	0.08279|0.08279|0.08279	7.569000|7.569000|7.569000	0.82380|0.82380|0.82380	2.234000|2.234000|2.234000	0.73211|0.73211|0.73211	0.655000|0.655000|0.655000	0.94253|0.94253|0.94253	GCT|CTC|AGC		0.592	MCF2L-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000045849.4			7	8	1	0	0.00198382	1	0.0020125	7	8					A	113741739	C	A	113741739	3	1	435	1	0	0	0	0	1	0	0	0	9379	797	28	5	2916	5	MCF2L	13	113741739	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	229518	113741739	1428139	6104	27029											
MCF2L	23263	broad.mit.edu	37	chr13	113748834	113748834	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tctgtctctcttaggttggaGcaaaacgtcccactcactgg	8	12	9	12	1	4	0	1	0	3	0	6	1	5	1	1	3	2	2	1	3	3	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr13:113748834G>A	ENST00000375608.3	+	28	3108	c.3050G>A	c.(3049-3051)aGc>aAc	p.S1017N	MCF2L_ENST00000421756.1_Missense_Mutation_p.S991N|MCF2L_ENST00000434480.2_Missense_Mutation_p.S993N|MCF2L_ENST00000535094.2_Missense_Mutation_p.S987N|MCF2L_ENST00000442652.2_Missense_Mutation_p.S1017N|MCF2L_ENST00000375601.3_Missense_Mutation_p.S991N|MCF2L_ENST00000423482.2_Missense_Mutation_p.S985N|MCF2L_ENST00000375604.2_Missense_Mutation_p.S1044N|MCF2L_ENST00000397030.1_Missense_Mutation_p.S1020N			O15068	MCF2L_HUMAN	MCF.2 cell line derived transforming sequence-like	1017					apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|extracellular space (GO:0005615)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)	1-phosphatidylinositol binding (GO:0005545)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			kidney(1)|large_intestine(5)|ovary(1)|stomach(1)	8	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0368)|all_epithelial(44;0.0396)|Lung NSC(25;0.129)|Breast(118;0.188)				TTAGGTTGGAGCAAAACGTCC	0.617																																						ENST00000397030.1																			0				kidney(1)|large_intestine(5)|ovary(1)|stomach(1)	8						c.(3058-3060)aGc>aAc		MCF.2 cell line derived transforming sequence-like							36	39	38					13																	113748834		1562	3579	5141	SO:0001583	missense	23263				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	Rho guanyl-nucleotide exchange factor activity	g.chr13:113748834G>A	AB002360	CCDS9527.2, CCDS45070.1, CCDS9527.3, CCDS45070.2	13q34	2013-01-10			ENSG00000126217	ENSG00000126217		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	14576	protein-coding gene	gene with protein product		609499				9205841	Standard	NM_001112732		Approved	KIAA0362, DBS, OST, ARHGEF14	uc010tjr.2	O15068	OTTHUMG00000017377	ENST00000375608.3:c.3050G>A	13.37:g.113748834G>A	ENSP00000364758:p.Ser1017Asn					MCF2L_ENST00000442652.2_Missense_Mutation_p.S1017N|MCF2L_ENST00000421756.1_Missense_Mutation_p.S991N|MCF2L_ENST00000375608.3_Missense_Mutation_p.S1017N|MCF2L_ENST00000535094.2_Missense_Mutation_p.S987N|MCF2L_ENST00000434480.2_Missense_Mutation_p.S993N|MCF2L_ENST00000375604.2_Missense_Mutation_p.S1044N|MCF2L_ENST00000375601.3_Missense_Mutation_p.S991N|MCF2L_ENST00000423482.2_Missense_Mutation_p.S985N	p.S1020N			O15068	MCF2L_HUMAN			27	3096	+	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0368)|all_epithelial(44;0.0396)|Lung NSC(25;0.129)|Breast(118;0.188)	1017					A2A2X1|A2A2X2|A2A3G6|A2A3G8|B4DHD6|B4DIL6|E9PDN8|Q5JU56|Q5VXT1|Q6ZWD4|Q765G8|Q765G9|Q8N679	Missense_Mutation	SNP	ENST00000375608.3	37	c.3059G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	7.485|7.485	0.649422|0.649422	0.14516|0.14516	.|.	.|.	ENSG00000126217|ENSG00000126217	ENST00000413354;ENST00000261963;ENST00000420013|ENST00000375608;ENST00000442652;ENST00000375604;ENST00000397030;ENST00000535094;ENST00000421756;ENST00000375601;ENST00000434480;ENST00000423482;ENST00000440749	.|T;T;T;T;T;T;T;T;T	.|0.35973	.|1.33;1.33;1.28;1.33;1.3;1.33;1.29;1.34;1.3	4.66|4.66	2.86|2.86	0.33363|0.33363	.|.	.|0.229422	.|0.43110	.|N	.|0.000605	T|T	0.25158|0.25158	0.0611|0.0611	L|L	0.39898|0.39898	1.24|1.24	0.22562|0.22562	N|N	0.998981|0.998981	.|B;B;B;B	.|0.11235	.|0.004;0.002;0.003;0.004	.|B;B;B;B	.|0.17098	.|0.012;0.012;0.017;0.008	T|T	0.13124|0.13124	-1.0521|-1.0521	5|10	.|0.36615	.|T	.|0.2	.|.	5.1066|5.1066	0.14787|0.14787	0.2221:0.2829:0.495:0.0|0.2221:0.2829:0.495:0.0	.|.	.|985;987;1044;1017	.|E9PDN8;O15068-9;G5E9A1;O15068	.|.;.;.;MCF2L_HUMAN	T|N	270;158;59|1017;1017;1044;1020;987;991;991;993;985;828	.|ENSP00000364758:S1017N;ENSP00000401422:S1017N;ENSP00000364754:S1044N;ENSP00000380225:S1020N;ENSP00000440374:S987N;ENSP00000397285:S991N;ENSP00000364751:S991N;ENSP00000407722:S993N;ENSP00000405639:S985N	.|ENSP00000364751:S991N	A|S	+|+	1|2	0|0	MCF2L|MCF2L	112796835|112796835	0.995000|0.995000	0.38212|0.38212	1.000000|1.000000	0.80357|0.80357	0.068000|0.068000	0.16541|0.16541	0.826000|0.826000	0.27407|0.27407	0.959000|0.959000	0.37980|0.37980	-0.150000|-0.150000	0.13652|0.13652	GCA|AGC		0.617	MCF2L-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000045849.4			8	10	0	0	0	1	0	8	10					A	113748834	G	A	113748834	3	1	435	1	0	0	0	0	1	0	0	0	9379	971	34	3	3332	3	MCF2L	13	113748834	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	7095	113748834	1421044	6105	27030											
F7	2155	broad.mit.edu	37	chr13	113770092	113770092	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggtactctctgctggcagaCggggtgtcctgcacacccac	6	8	13	14	1	1	1	0	0	1	1	3	1	2	1	2	4	3	4	2	4	1	1	rs6040	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr13:113770092C>T	ENST00000375581.3	+	6	584	c.549C>T	c.(547-549)gaC>gaT	p.D183D	F7_ENST00000541084.1_Silent_p.D114D|F7_ENST00000346342.3_Silent_p.D161D	NM_000131.4	NP_000122.1	P08709	FA7_HUMAN	coagulation factor VII (serum prothrombin conversion accelerator)	183	EGF-like 2. {ECO:0000255|PROSITE- ProRule:PRU00076}.		D -> N (in FA7D). {ECO:0000269|PubMed:18976247}.		blood coagulation (GO:0007596)|blood coagulation, extrinsic pathway (GO:0007598)|cellular protein metabolic process (GO:0044267)|circadian rhythm (GO:0007623)|organ regeneration (GO:0031100)|peptidyl-glutamic acid carboxylation (GO:0017187)|positive regulation of blood coagulation (GO:0030194)|positive regulation of cell migration (GO:0030335)|positive regulation of leukocyte chemotaxis (GO:0002690)|positive regulation of platelet-derived growth factor receptor signaling pathway (GO:0010641)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of protein kinase B signaling (GO:0051897)|post-translational protein modification (GO:0043687)|proteolysis (GO:0006508)|response to estrogen (GO:0043627)|response to growth hormone (GO:0060416)|response to vitamin K (GO:0032571)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	calcium ion binding (GO:0005509)|glycoprotein binding (GO:0001948)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			large_intestine(4)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	16	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0364)|all_epithelial(44;0.0393)|Lung NSC(25;0.128)|Breast(118;0.188)	all cancers(43;0.0737)|Epithelial(84;0.213)|BRCA - Breast invasive adenocarcinoma(86;0.218)		Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Menadione(DB00170)	TGCTGGCAGACGGGGTGTCCT	0.592													C|||	28	0.00559105	0.0015	0.0014	5008	,	,		20131	0.0248		0	False		,,,				2504	0					ENST00000375581.3																			0				large_intestine(4)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	16						c.(547-549)gaC>gaT		coagulation factor VII (serum prothrombin conversion accelerator)	Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Menadione(DB00170)						64	55	58					13																	113770092		2203	4300	6503	SO:0001819	synonymous_variant	2155				anti-apoptosis|blood coagulation, extrinsic pathway|peptidyl-glutamic acid carboxylation|positive regulation of leukocyte chemotaxis|positive regulation of platelet-derived growth factor receptor signaling pathway|positive regulation of positive chemotaxis|positive regulation of protein kinase B signaling cascade|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|Golgi lumen|plasma membrane	calcium ion binding|glycoprotein binding|serine-type endopeptidase activity	g.chr13:113770092C>T		CCDS9528.1, CCDS9529.1, CCDS73602.1	13q34	2014-02-03			ENSG00000057593	ENSG00000057593	3.4.21.21		3544	protein-coding gene	gene with protein product	"eptacog alfa", "FVII coagulation protein", "factor VII"	613878				3264725, 2511201	Standard	NM_000131		Approved		uc001vsv.4	P08709	OTTHUMG00000017373	ENST00000375581.3:c.549C>T	13.37:g.113770092C>T						F7_ENST00000541084.1_Silent_p.D114D|F7_ENST00000346342.3_Silent_p.D161D	p.D183D	NM_000131.4	NP_000122.1	P08709	FA7_HUMAN	all cancers(43;0.0737)|Epithelial(84;0.213)|BRCA - Breast invasive adenocarcinoma(86;0.218)		6	584	+	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0364)|all_epithelial(44;0.0393)|Lung NSC(25;0.128)|Breast(118;0.188)	183		D -> N (in FA7D).	EGF-like 2.		B0YJC8|Q14339|Q5JVF1|Q5JVF2|Q9UD52|Q9UD53|Q9UD54	Silent	SNP	ENST00000375581.3	37	c.549C>T	CCDS9528.1																																																																																				0.592	F7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045838.4	NM_000131		8	15	0	0	0	1	0	8	15					T	113770092	C	T	113770092	2	4	435	1	0	0	0	0	0	0	0	1	5349	535	19	1		1	F7	13	113770092	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	21258	113770092	1399786	6106	27031											
F10	2159	broad.mit.edu	37	chr13	113803437	113803437	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacgctgatgacgcagaagaCggggattgtgagcggcttcg	9	7	16	9	5	0	5	0	3	0	2	1	6	0	6	0	3	1	3	0	3	1	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr13:113803437C>T	ENST00000375559.3	+	8	1111	c.1073C>T	c.(1072-1074)aCg>aTg	p.T358M	F10_ENST00000375551.3_3'UTR|F10_ENST00000409306.1_3'UTR	NM_000504.3	NP_000495.1	P00742	FA10_HUMAN	coagulation factor X	358	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.		T -> M (in FA10D; Roma). {ECO:0000269|PubMed:10746568}.		blood coagulation (GO:0007596)|blood coagulation, extrinsic pathway (GO:0007598)|blood coagulation, intrinsic pathway (GO:0007597)|cellular protein metabolic process (GO:0044267)|peptidyl-glutamic acid carboxylation (GO:0017187)|positive regulation of cell migration (GO:0030335)|positive regulation of protein kinase B signaling (GO:0051897)|post-translational protein modification (GO:0043687)|proteolysis (GO:0006508)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|intrinsic component of external side of plasma membrane (GO:0031233)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|phospholipid binding (GO:0005543)|serine-type endopeptidase activity (GO:0004252)			endometrium(2)|large_intestine(4)|lung(10)|pancreas(1)|stomach(1)	18	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.113)|all_lung(25;0.0364)|all_epithelial(44;0.0373)|Lung NSC(25;0.128)|Breast(118;0.188)	all cancers(43;0.0805)|Epithelial(84;0.231)		Antihemophilic Factor(DB00025)|Apixaban(DB06605)|Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Enoxaparin(DB01225)|Fondaparinux sodium(DB00569)|Heparin(DB01109)|Menadione(DB00170)|Rivaroxaban(DB06228)	ACGCAGAAGACGGGGATTGTG	0.662																																						ENST00000375559.3																			0				endometrium(2)|large_intestine(4)|lung(10)|pancreas(1)|stomach(1)	18	GRCh37	CM940381	F10	M		c.(1072-1074)aCg>aTg		coagulation factor X	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Enoxaparin(DB01225)|Heparin(DB01109)|Menadione(DB00170)|Reteplase(DB00015)|Tenecteplase(DB00031)						58	50	53					13																	113803437		2203	4299	6502	SO:0001583	missense	2159				blood coagulation, extrinsic pathway|blood coagulation, intrinsic pathway|peptidyl-glutamic acid carboxylation|positive regulation of cell migration|positive regulation of protein kinase B signaling cascade|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|extracellular region|Golgi lumen	calcium ion binding|phospholipid binding|protein binding|serine-type endopeptidase activity	g.chr13:113803437C>T		CCDS9530.1	13q34	2012-10-02			ENSG00000126218	ENSG00000126218	3.4.21.6		3528	protein-coding gene	gene with protein product		613872					Standard	XM_005268298		Approved		uc001vsx.3	P00742	OTTHUMG00000017374	ENST00000375559.3:c.1073C>T	13.37:g.113803437C>T	ENSP00000364709:p.Thr358Met					F10_ENST00000375551.3_3'UTR|F10_ENST00000409306.1_3'UTR	p.T358M	NM_000504.3	NP_000495.1	P00742	FA10_HUMAN	all cancers(43;0.0805)|Epithelial(84;0.231)		8	1111	+	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.113)|all_lung(25;0.0364)|all_epithelial(44;0.0373)|Lung NSC(25;0.128)|Breast(118;0.188)	358		T -> M (in FA10D; Roma).	Peptidase S1.		Q14340	Missense_Mutation	SNP	ENST00000375559.3	37	c.1073C>T	CCDS9530.1	.	.	.	.	.	.	.	.	.	.	C	10.55	1.380438	0.24944	.	.	ENSG00000126218	ENST00000375559	D	0.89810	-2.57	5.25	2.5	0.30297	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.811066	0.10910	N	0.620654	D	0.87904	0.6295	L	0.41906	1.305	0.09310	N	1	D	0.61697	0.99	P	0.59221	0.854	T	0.75858	-0.3169	10	0.40728	T	0.16	.	2.9041	0.05715	0.1238:0.5491:0.1205:0.2067	.	358	P00742	FA10_HUMAN	M	358	ENSP00000364709:T358M	ENSP00000364709:T358M	T	+	2	0	F10	112851438	0.000000	0.05858	0.043000	0.18650	0.038000	0.13279	0.311000	0.19380	0.576000	0.29452	-0.251000	0.11542	ACG		0.662	F10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045841.3			10	21	0	0	0	1	0	10	21					T	113803437	C	T	113803437	3	4	435	1	0	0	0	0	1	0	0	0	5336	536	19	1	1103	1	F10	13	113803437	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	33345	113803437	1366441	6107	27032											
CUL4A	8451	broad.mit.edu	37	chr13	113897425	113897425	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcaacctgatgaaggagtcCtttgagacgttcatcaacaa	13	10	9	9	1	3	3	3	3	0	1	4	5	4	4	2	1	2	1	2	1	4	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr13:113897425C>A	ENST00000375440.4	+	11	1263	c.1179C>A	c.(1177-1179)tcC>tcA	p.S393S	CUL4A_ENST00000375441.3_Silent_p.S293S|CUL4A_ENST00000326335.4_Silent_p.S293S|CUL4A_ENST00000451881.1_Silent_p.S293S	NM_001008895.1	NP_001008895.1	Q13619	CUL4A_HUMAN	cullin 4A	393					cell cycle arrest (GO:0007050)|DNA repair (GO:0006281)|G1/S transition of mitotic cell cycle (GO:0000082)|hemopoiesis (GO:0030097)|intrinsic apoptotic signaling pathway (GO:0097193)|negative regulation of cell proliferation (GO:0008285)|negative regulation of granulocyte differentiation (GO:0030853)|positive regulation of cell proliferation (GO:0008284)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination (GO:0016567)|regulation of DNA damage checkpoint (GO:2000001)|regulation of nucleotide-excision repair (GO:2000819)|regulation of protein metabolic process (GO:0051246)|somatic stem cell maintenance (GO:0035019)|viral process (GO:0016032)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|Cul4A-RING E3 ubiquitin ligase complex (GO:0031464)				NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|large_intestine(5)|lung(5)|skin(1)	17	Lung NSC(43;0.0161)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0482)|all_epithelial(44;0.0148)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188)	all cancers(43;0.112)			TGAAGGAGTCCTTTGAGACGT	0.448																																						ENST00000451881.1																			0				NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|large_intestine(5)|lung(5)|skin(1)	17						c.(877-879)tcC>tcA		cullin 4A							144	121	129					13																	113897425		2203	4300	6503	SO:0001819	synonymous_variant	8451				cell cycle arrest|DNA repair|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|ubiquitin-dependent protein catabolic process	Cul4A-RING ubiquitin ligase complex	ubiquitin protein ligase binding	g.chr13:113897425C>A	U58090	CCDS9533.1, CCDS41908.1, CCDS73604.1	13q34	2011-05-24			ENSG00000139842	ENSG00000139842			2554	protein-coding gene	gene with protein product		603137				8681378	Standard	NM_001008895		Approved		uc021rmv.1	Q13619	OTTHUMG00000017384	ENST00000375440.4:c.1179C>A	13.37:g.113897425C>A						CUL4A_ENST00000375440.4_Silent_p.S393S|CUL4A_ENST00000375441.3_Silent_p.S293S|CUL4A_ENST00000326335.4_Silent_p.S293S	p.S293S	NM_001278513.1|NM_003589.2	NP_001265442.1|NP_003580.1	Q13619	CUL4A_HUMAN	all cancers(43;0.112)		11	1128	+	Lung NSC(43;0.0161)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0482)|all_epithelial(44;0.0148)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188)	393					A2A2W2|O75834|Q589T6|Q5TC62|Q6UP08|Q9UP17	Silent	SNP	ENST00000375440.4	37	c.879C>A	CCDS41908.1																																																																																				0.448	CUL4A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045888.3	NM_003589		6	102	1	0	0.00116845	1	0.0011864	6	102					A	113897425	C	A	113897425	2	1	435	1	0	0	0	0	0	0	0	1	4057	668	24	5		5	CUL4A	13	113897425	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	93988	113897425	1272453	6108	27033											
LAMP1	3916	broad.mit.edu	37	chr13	113976601	113976601	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccgtctgtcttggcagtggaGgagtgtctgctggacgagaa	7	10	16	8	2	3	1	0	0	3	1	3	5	3	4	1	4	1	2	1	4	1	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr13:113976601G>T	ENST00000332556.4	+	9	1313	c.1119G>T	c.(1117-1119)gaG>gaT	p.E373D	LAMP1_ENST00000397181.3_Missense_Mutation_p.E320D|LAMP1_ENST00000471046.1_3'UTR	NM_005561.3	NP_005552.3	P11279	LAMP1_HUMAN	lysosomal-associated membrane protein 1	373	Second lumenal domain.				autophagic cell death (GO:0048102)|autophagy (GO:0006914)|establishment of protein localization to organelle (GO:0072594)|Golgi to lysosome transport (GO:0090160)|granzyme-mediated apoptotic signaling pathway (GO:0008626)|positive regulation of natural killer cell degranulation (GO:0043323)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|protein stabilization (GO:0050821)|regulation of organelle transport along microtubule (GO:1902513)	alveolar lamellar body (GO:0097208)|cytolytic granule (GO:0044194)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|lysosome (GO:0005764)|melanosome (GO:0042470)|membrane (GO:0016020)|multivesicular body (GO:0005771)|neuronal cell body (GO:0043025)|phagolysosome membrane (GO:0061474)|sarcolemma (GO:0042383)	enzyme binding (GO:0019899)			NS(1)|central_nervous_system(2)|endometrium(3)|large_intestine(4)|lung(2)|prostate(1)|skin(1)|stomach(2)	16	Lung NSC(43;0.0161)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0482)|all_epithelial(44;0.0148)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188)	all cancers(43;0.025)|GBM - Glioblastoma multiforme(44;0.206)|Epithelial(84;0.246)			TGGCAGTGGAGGAGTGTCTGC	0.627																																						ENST00000332556.4																			0				NS(1)|central_nervous_system(2)|endometrium(3)|large_intestine(4)|lung(2)|prostate(1)|skin(1)|stomach(2)	16						c.(1117-1119)gaG>gaT		lysosomal-associated membrane protein 1							75	89	85					13																	113976601		2132	4243	6375	SO:0001583	missense	3916					endosome membrane|integral to plasma membrane|lysosomal membrane|membrane fraction		g.chr13:113976601G>T	J03263	CCDS41909.1	13q34	2011-11-24			ENSG00000185896	ENSG00000185896		"CD molecules"	6499	protein-coding gene	gene with protein product		153330					Standard	NM_005561		Approved	CD107a	uc001vtm.1	P11279	OTTHUMG00000017380	ENST00000332556.4:c.1119G>T	13.37:g.113976601G>T	ENSP00000333298:p.Glu373Asp					LAMP1_ENST00000471046.1_3'UTR|LAMP1_ENST00000397181.3_Missense_Mutation_p.E320D	p.E373D	NM_005561.3	NP_005552.3	P11279	LAMP1_HUMAN	all cancers(43;0.025)|GBM - Glioblastoma multiforme(44;0.206)|Epithelial(84;0.246)		9	1313	+	Lung NSC(43;0.0161)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0482)|all_epithelial(44;0.0148)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188)	373			Second lumenal domain.		B4DWL3|Q8WU33|Q96I40|Q9BRD2|Q9NP13	Missense_Mutation	SNP	ENST00000332556.4	37	c.1119G>T	CCDS41909.1	.	.	.	.	.	.	.	.	.	.	G	19.03	3.748539	0.69533	.	.	ENSG00000185896	ENST00000332556;ENST00000397181	T;T	0.35048	1.33;1.33	5.12	-1.23	0.09465	.	0.155451	0.56097	D	0.000035	T	0.55226	0.1907	M	0.80028	2.48	0.51233	D	0.999914	D;D	0.89917	1.0;1.0	D;D	0.85130	0.992;0.997	T	0.53092	-0.8487	10	0.33940	T	0.23	-41.3934	11.6855	0.51483	0.7797:0.0:0.2203:0.0	.	320;373	B4DWL3;P11279	.;LAMP1_HUMAN	D	373;320	ENSP00000333298:E373D;ENSP00000415354:E320D	ENSP00000333298:E373D	E	+	3	2	LAMP1	113024602	1.000000	0.71417	0.988000	0.46212	0.890000	0.51754	0.953000	0.29162	-0.365000	0.08076	0.313000	0.20887	GAG		0.627	LAMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045876.2			18	26	1	0	5.35267e-07	1	5.59292e-07	18	26					T	113976601	G	T	113976601	3	4	435	1	0	0	0	0	1	0	0	0	8617	991	35	5	1153	5	LAMP1	13	113976601	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	79176	113976601	1193277	6109	27034											
GRTP1	79774	broad.mit.edu	37	chr13	114009752	114009752	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	actcagcaccatccagacgcGggcacggtgctccagcggga	9	4	13	15	4	1	1	1	0	0	1	3	2	3	2	3	3	3	3	3	3	0	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr13:114009752G>A	ENST00000375431.4	-	3	300	c.226C>T	c.(226-228)Cgc>Tgc	p.R76C	GRTP1-AS1_ENST00000423246.1_RNA|GRTP1_ENST00000375430.4_Missense_Mutation_p.R76C|GRTP1_ENST00000326039.3_5'Flank|GRTP1-AS1_ENST00000419199.1_RNA	NM_024719.2	NP_078995.2	Q5TC63	GRTP1_HUMAN	growth hormone regulated TBC protein 1	76	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.						Rab GTPase activator activity (GO:0005097)			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)	14	Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0314)|all_epithelial(44;0.011)|all_lung(25;0.0271)|Lung NSC(25;0.0978)|Breast(118;0.188)	all cancers(43;0.025)|GBM - Glioblastoma multiforme(44;0.206)|Epithelial(84;0.246)			ATCCAGACGCGGGCACGGTGC	0.662																																						ENST00000375430.4																			0				cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)	14						c.(226-228)Cgc>Tgc		growth hormone regulated TBC protein 1							49	46	47					13																	114009752		2203	4300	6503	SO:0001583	missense	79774					intracellular	Rab GTPase activator activity	g.chr13:114009752G>A	AK026127	CCDS9534.2, CCDS66591.1, CCDS73606.1	13q34	2011-11-30			ENSG00000139835	ENSG00000139835			20310	protein-coding gene	gene with protein product						11564724	Standard	NM_001286732		Approved	FLJ22474, TBC1D6	uc001vtn.3	Q5TC63	OTTHUMG00000017381	ENST00000375431.4:c.226C>T	13.37:g.114009752G>A	ENSP00000364580:p.Arg76Cys					GRTP1-AS1_ENST00000419199.1_RNA|GRTP1-AS1_ENST00000423246.1_RNA|GRTP1_ENST00000375431.4_Missense_Mutation_p.R76C	p.R76C			Q5TC63	GRTP1_HUMAN	all cancers(43;0.025)|GBM - Glioblastoma multiforme(44;0.206)|Epithelial(84;0.246)		3	272	-	Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0314)|all_epithelial(44;0.011)|all_lung(25;0.0271)|Lung NSC(25;0.0978)|Breast(118;0.188)	76			Rab-GAP TBC.		B9A6K2|Q2M232|Q5TC64|Q66K26|Q6P659|Q8N528|Q9H695	Missense_Mutation	SNP	ENST00000375431.4	37	c.226C>T	CCDS9534.2	.	.	.	.	.	.	.	.	.	.	G	18.34	3.601676	0.66445	.	.	ENSG00000139835	ENST00000375431;ENST00000375430	T;T	0.12255	2.7;2.7	4.5	3.56	0.40772	Rab-GAP/TBC domain (4);	0.885835	0.09589	U	0.781756	T	0.35068	0.0919	M	0.79475	2.455	0.09310	N	1	D;D	0.76494	0.999;0.999	P;P	0.61658	0.892;0.809	T	0.08371	-1.0725	10	0.56958	D	0.05	.	11.5796	0.50883	0.1032:0.0:0.8968:0.0	.	76;76	B9A6K2;Q5TC63	.;GRTP1_HUMAN	C	76	ENSP00000364580:R76C;ENSP00000364579:R76C	ENSP00000364579:R76C	R	-	1	0	GRTP1	113057753	0.175000	0.23083	0.960000	0.40013	0.988000	0.76386	1.423000	0.34837	2.332000	0.79248	0.591000	0.81541	CGC		0.662	GRTP1-002	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000045882.5	NM_024719		10	16	0	0	0	1	0	10	16					A	114009752	G	A	114009752	3	1	435	1	0	0	0	0	1	0	0	0	6810	1116	39	2	808	2	GRTP1	13	114009752	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	33151	114009752	1160126	6110	27035											
DCUN1D2	55208	broad.mit.edu	37	chr13	114112358	114112358	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgctgcctagaaaaggctgcGttttccacctgtgactactg	8	12	10	11	1	0	2	0	1	0	1	1	2	1	2	3	1	4	3	3	1	4	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr13:114112358G>A	ENST00000478244.1	-	7	1048	c.766C>T	c.(766-768)Cgc>Tgc	p.R256C	DCUN1D2_ENST00000332592.3_Missense_Mutation_p.R123C	NM_001014283.1	NP_001014305.1	Q6PH85	DCNL2_HUMAN	DCN1, defective in cullin neddylation 1, domain containing 2	256										breast(1)|endometrium(1)|large_intestine(1)|lung(3)|stomach(1)	7	Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0395)|all_epithelial(44;0.011)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188)	all cancers(43;0.029)|GBM - Glioblastoma multiforme(44;0.234)			AAAAGGCTGCGTTTTCCACCT	0.443											OREG0022535	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000332592.3																			0				breast(1)|endometrium(1)|large_intestine(1)|lung(3)|stomach(1)	7						c.(367-369)Cgc>Tgc		DCN1, defective in cullin neddylation 1, domain containing 2							233	239	237					13																	114112358		2203	4300	6503	SO:0001583	missense	55208							g.chr13:114112358G>A	AK001566	CCDS32013.1	13q34	2013-06-10	2013-06-10	2005-10-04	ENSG00000150401	ENSG00000150401			20328	protein-coding gene	gene with protein product			"chromosome 13 open reading frame 17", "DCN1, defective in cullin neddylation 1, domain containing 2 (S. cerevisiae)"	C13orf17		15988528	Standard	XM_005268320		Approved	FLJ10704, FLJ20092	uc001vtr.1	Q6PH85	OTTHUMG00000017390	ENST00000478244.1:c.766C>T	13.37:g.114112358G>A	ENSP00000417706:p.Arg256Cys		OREG0022535	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1455	DCUN1D2_ENST00000478244.1_Missense_Mutation_p.R256C	p.R123C			Q6PH85	DCNL2_HUMAN	all cancers(43;0.029)|GBM - Glioblastoma multiforme(44;0.234)		5	401	-	Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0395)|all_epithelial(44;0.011)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188)	256			DCUN1.		Q5JSA5|Q5JSA6|Q5JSA7|Q9NVJ1|Q9NXR6	Missense_Mutation	SNP	ENST00000478244.1	37	c.367C>T	CCDS32013.1	.	.	.	.	.	.	.	.	.	.	G	13.82	2.350226	0.41599	.	.	ENSG00000150401	ENST00000332592;ENST00000478244	.	.	.	4.79	2.07	0.26955	.	0.053400	0.85682	D	0.000000	T	0.16769	0.0403	N	0.08118	0	0.29081	N	0.882718	D	0.56287	0.975	P	0.46339	0.513	T	0.09250	-1.0683	9	0.59425	D	0.04	.	6.2333	0.20747	0.0737:0.1391:0.6531:0.1341	.	256	Q6PH85	DCNL2_HUMAN	C	123;256	.	ENSP00000330629:R123C	R	-	1	0	DCUN1D2	113160359	1.000000	0.71417	0.000000	0.03702	0.011000	0.07611	7.020000	0.76419	0.098000	0.17522	-0.181000	0.13052	CGC		0.443	DCUN1D2-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045938.4	NM_018185		32	242	0	0	0	1	0	32	242					A	114112358	G	A	114112358	3	1	435	1	0	0	0	0	1	0	0	0	4314	1145	40	1	17	1	DCUN1D2	13	114112358	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	102606	114112358	1057520	6111	27036											
TMCO3	55002	broad.mit.edu	37	chr13	114164673	114164673	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgtcttcatttccacgtgtCtgtccttgtcaagcacaccc	6	13	7	15	2	4	0	2	0	2	0	6	0	6	0	3	0	1	1	3	0	1	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr13:114164673C>A	ENST00000434316.2	+	7	1518	c.1159C>A	c.(1159-1161)Ctg>Atg	p.L387M	TMCO3_ENST00000474393.1_3'UTR|TMCO3_ENST00000375391.1_Missense_Mutation_p.L387M	NM_017905.4	NP_060375.4	Q6UWJ1	TMCO3_HUMAN	transmembrane and coiled-coil domains 3	387						integral component of membrane (GO:0016021)	solute:proton antiporter activity (GO:0015299)			NS(1)|endometrium(4)|large_intestine(9)|liver(1)|lung(8)|prostate(1)|stomach(1)	25	Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0145)|all_epithelial(44;0.00286)|all_lung(25;0.0273)|Breast(118;0.0411)|Lung NSC(25;0.0983)	all cancers(43;0.0317)			TTCCACGTGTCTGTCCTTGTC	0.532																																						ENST00000434316.2																			0				NS(1)|endometrium(4)|large_intestine(9)|liver(1)|lung(8)|prostate(1)|stomach(1)	25						c.(1159-1161)Ctg>Atg		transmembrane and coiled-coil domains 3							190	157	168					13																	114164673		2203	4300	6503	SO:0001583	missense	55002					integral to membrane	solute:hydrogen antiporter activity	g.chr13:114164673C>A	BC012564	CCDS9537.1	13q34	2008-02-05	2005-07-22	2005-07-22	ENSG00000150403	ENSG00000150403			20329	protein-coding gene	gene with protein product			"chromosome 13 open reading frame 11"	C13orf11			Standard	NM_017905		Approved	FLJ20623	uc001vtu.4	Q6UWJ1	OTTHUMG00000017389	ENST00000434316.2:c.1159C>A	13.37:g.114164673C>A	ENSP00000389399:p.Leu387Met					TMCO3_ENST00000474393.1_3'UTR|TMCO3_ENST00000375391.1_Missense_Mutation_p.L387M	p.L387M	NM_017905.4	NP_060375.4	Q6UWJ1	TMCO3_HUMAN	all cancers(43;0.0317)		7	1518	+	Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0145)|all_epithelial(44;0.00286)|all_lung(25;0.0273)|Breast(118;0.0411)|Lung NSC(25;0.0983)	387					Q5JSB1|Q6NUN1|Q8NG29|Q8TCI6|Q96EA6|Q9NWT2	Missense_Mutation	SNP	ENST00000434316.2	37	c.1159C>A	CCDS9537.1	.	.	.	.	.	.	.	.	.	.	C	11.87	1.766478	0.31228	.	.	ENSG00000150403	ENST00000434316;ENST00000375391	T;T	0.23348	1.91;1.91	4.99	-3.24	0.05094	Cation/H+ exchanger (1);	0.000000	0.64402	D	0.000001	T	0.51669	0.1688	M	0.88450	2.955	0.40712	D	0.982585	D;D	0.76494	0.999;0.998	D;D	0.72625	0.978;0.962	T	0.60172	-0.7315	10	0.72032	D	0.01	-18.7096	14.9293	0.70903	0.0:0.1188:0.0:0.8812	.	387;387	Q6UWJ1;Q6UWJ1-2	TMCO3_HUMAN;.	M	387	ENSP00000389399:L387M;ENSP00000364540:L387M	ENSP00000364540:L387M	L	+	1	2	TMCO3	113212674	0.822000	0.29219	0.010000	0.14722	0.009000	0.06853	0.080000	0.14802	-0.955000	0.03636	-0.293000	0.09583	CTG		0.532	TMCO3-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045931.3	NM_017905		41	50	1	0	2.00842e-17	1	2.21064e-17	41	50					A	114164673	C	A	114164673	3	1	435	1	0	0	0	0	1	0	0	0	15994	912	32	5	1181	5	TMCO3	13	114164673	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	52315	114164673	1005205	6112	27037											
TMCO3	55002	broad.mit.edu	37	chr13	114201677	114201677	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctggtgttcctcaccttgTcagtggtggtgatgaaggta	6	14	14	7	0	2	2	2	2	0	0	3	2	3	2	2	4	1	3	2	4	2	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr13:114201677T>C	ENST00000434316.2	+	11	2112	c.1753T>C	c.(1753-1755)Tca>Cca	p.S585P	TMCO3_ENST00000375391.1_Intron	NM_017905.4	NP_060375.4	Q6UWJ1	TMCO3_HUMAN	transmembrane and coiled-coil domains 3	585						integral component of membrane (GO:0016021)	solute:proton antiporter activity (GO:0015299)			NS(1)|endometrium(4)|large_intestine(9)|liver(1)|lung(8)|prostate(1)|stomach(1)	25	Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0145)|all_epithelial(44;0.00286)|all_lung(25;0.0273)|Breast(118;0.0411)|Lung NSC(25;0.0983)	all cancers(43;0.0317)			CCTCACCTTGTCAGTGGTGGT	0.612																																						ENST00000434316.2																			0				NS(1)|endometrium(4)|large_intestine(9)|liver(1)|lung(8)|prostate(1)|stomach(1)	25						c.(1753-1755)Tca>Cca		transmembrane and coiled-coil domains 3							254	171	199					13																	114201677		2203	4300	6503	SO:0001583	missense	55002					integral to membrane	solute:hydrogen antiporter activity	g.chr13:114201677T>C	BC012564	CCDS9537.1	13q34	2008-02-05	2005-07-22	2005-07-22	ENSG00000150403	ENSG00000150403			20329	protein-coding gene	gene with protein product			"chromosome 13 open reading frame 11"	C13orf11			Standard	NM_017905		Approved	FLJ20623	uc001vtu.4	Q6UWJ1	OTTHUMG00000017389	ENST00000434316.2:c.1753T>C	13.37:g.114201677T>C	ENSP00000389399:p.Ser585Pro					TMCO3_ENST00000375391.1_Intron	p.S585P	NM_017905.4	NP_060375.4	Q6UWJ1	TMCO3_HUMAN	all cancers(43;0.0317)		11	2112	+	Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0145)|all_epithelial(44;0.00286)|all_lung(25;0.0273)|Breast(118;0.0411)|Lung NSC(25;0.0983)	585					Q5JSB1|Q6NUN1|Q8NG29|Q8TCI6|Q96EA6|Q9NWT2	Missense_Mutation	SNP	ENST00000434316.2	37	c.1753T>C	CCDS9537.1	.	.	.	.	.	.	.	.	.	.	T	11.96	1.795107	0.31777	.	.	ENSG00000150403	ENST00000434316	T	0.16324	2.35	4.78	2.18	0.27775	Cation/H+ exchanger (1);	0.391381	0.26380	N	0.024712	T	0.17280	0.0415	L	0.48642	1.525	0.80722	D	1	B	0.33477	0.413	B	0.37989	0.262	T	0.03240	-1.1057	10	0.33940	T	0.23	-16.4321	11.35	0.49583	0.0:0.0:0.2895:0.7105	.	585	Q6UWJ1	TMCO3_HUMAN	P	585	ENSP00000389399:S585P	ENSP00000389399:S585P	S	+	1	0	TMCO3	113249678	1.000000	0.71417	0.150000	0.22450	0.647000	0.38526	4.010000	0.57117	0.168000	0.19655	0.374000	0.22700	TCA		0.612	TMCO3-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045931.3	NM_017905		26	35	0	0	0	1	0	26	35					C	114201677	T	C	114201677	3	2	435	1	0	0	0	0	1	0	0	0	15994	1667	58	4	1791	4	TMCO3	13	114201677	Missense_Mutation	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	37004	114201677	968201	6113	27038											
TFDP1	7027	broad.mit.edu	37	chr13	114288234	114288234	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagaaaaacataagacggcgCgtctacgatgccttaaacgt	15	7	9	10	5	1	2	0	0	1	2	1	3	1	2	1	1	4	0	1	1	6	3	rs374253994		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr13:114288234C>T	ENST00000375370.5	+	7	716	c.504C>T	c.(502-504)cgC>cgT	p.R168R	TFDP1_ENST00000538138.1_Silent_p.R73R|TFDP1_ENST00000465174.1_3'UTR|TFDP1_ENST00000544902.1_Silent_p.R73R	NM_007111.4	NP_009042.1	Q14186	TFDP1_HUMAN	transcription factor Dp-1	168					anoikis (GO:0043276)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|epidermis development (GO:0008544)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|intrinsic apoptotic signaling pathway (GO:0097193)|mitotic cell cycle (GO:0000278)|Notch signaling pathway (GO:0007219)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of DNA biosynthetic process (GO:2000278)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|protein domain specific binding (GO:0019904)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(10)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	26	Lung NSC(43;0.0113)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.132)|all_epithelial(44;0.0731)|all_lung(25;0.149)|Breast(118;0.153)	all cancers(43;0.0576)			TAAGACGGCGCGTCTACGATG	0.488										TSP Lung(29;0.18)																												ENST00000375370.5																			0				breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(10)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	26						c.(502-504)cgC>cgT		transcription factor Dp-1		C		0,4406		0,0,2203	113	107	109		504	-8.6	0.9	13		109	1,8599		0,1,4299	no	coding-synonymous	TFDP1	NM_007111.4		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		168/411	114288234	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	7027				cell proliferation|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|regulation of transcription from RNA polymerase II promoter	transcription factor complex	DNA binding|protein domain specific binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding	g.chr13:114288234C>T	BC011685	CCDS9538.1	13q34	2008-07-18			ENSG00000198176	ENSG00000198176			11749	protein-coding gene	gene with protein product		189902				8413592, 9027491	Standard	NM_007111		Approved	Dp-1, DRTF1, DP1	uc001vtw.3	Q14186	OTTHUMG00000017388	ENST00000375370.5:c.504C>T	13.37:g.114288234C>T		TSP Lung(29;0.18)				TFDP1_ENST00000544902.1_Silent_p.R73R|TFDP1_ENST00000465174.1_3'UTR|TFDP1_ENST00000538138.1_Silent_p.R73R	p.R168R	NM_007111.4	NP_009042.1	Q14186	TFDP1_HUMAN	all cancers(43;0.0576)		7	716	+	Lung NSC(43;0.0113)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.132)|all_epithelial(44;0.0731)|all_lung(25;0.149)|Breast(118;0.153)	168					B4DLQ9|Q5JSB4|Q8IZL5	Silent	SNP	ENST00000375370.5	37	c.504C>T	CCDS9538.1																																																																																				0.488	TFDP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045918.3	NM_007111		18	74	0	0	0	1	0	18	74					T	114288234	C	T	114288234	2	4	435	1	0	0	0	0	0	0	0	1	15794	755	27	1		1	TFDP1	13	114288234	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	86557	114288234	881644	6114	27039											
FAM70B	348013	broad.mit.edu	37	chr13	114469150	114469150	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtctctgctgctggtgtccGtcctcatagtcaccgtcggg	3	12	13	13	3	3	0	2	0	1	0	7	0	5	0	3	3	2	2	3	3	1	1	rs149974408		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr13:114469150G>A	ENST00000375353.3	+	2	136	c.109G>A	c.(109-111)Gtc>Atc	p.V37I		NM_182614.2	NP_872420.1	Q8WV15	T255B_HUMAN	transmembrane protein 255B	37						integral component of membrane (GO:0016021)											GCTGGTGTCCGTCCTCATAGT	0.632																																						ENST00000375353.3																			0											c.(109-111)Gtc>Atc		transmembrane protein 255B		G	ILE/VAL	0,4406		0,0,2203	140	104	116		109	-1.8	0	13	dbSNP_134	116	1,8599	1.2+/-3.3	0,1,4299	no	missense	FAM70B	NM_182614.2	29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	37/327	114469150	1,13005	2203	4300	6503	SO:0001583	missense	348013							g.chr13:114469150G>A	BC018995	CCDS45071.1	13q34	2012-11-30	2012-11-30	2012-11-30	ENSG00000184497	ENSG00000184497			28297	protein-coding gene	gene with protein product			"family with sequence similarity 70, member B"	FAM70B		12477932	Standard	NM_182614		Approved	MGC20579	uc001vuh.3	Q8WV15	OTTHUMG00000017398	ENST00000375353.3:c.109G>A	13.37:g.114469150G>A	ENSP00000364502:p.Val37Ile						p.V37I	NM_182614.2	NP_872420.1					2	136	+									Missense_Mutation	SNP	ENST00000375353.3	37	c.109G>A	CCDS45071.1	.	.	.	.	.	.	.	.	.	.	g	4.849	0.157786	0.09236	0.0	1.16E-4	ENSG00000184497	ENST00000375353	T	0.44482	0.92	4.42	-1.76	0.08006	.	.	.	.	.	T	0.28400	0.0702	L	0.41961	1.31	0.09310	N	1	B;B	0.22346	0.068;0.054	B;B	0.15870	0.014;0.007	T	0.22941	-1.0202	9	0.22706	T	0.39	-2.191	6.4874	0.22097	0.4882:0.1278:0.384:0.0	.	37;37	B4DIK8;Q8WV15	.;FA70B_HUMAN	I	37	ENSP00000364502:V37I	ENSP00000364502:V37I	V	+	1	0	FAM70B	113644793	0.000000	0.05858	0.000000	0.03702	0.045000	0.14185	-0.933000	0.03959	-0.329000	0.08527	0.313000	0.20887	GTC		0.632	TMEM255B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045953.4	NM_182614		8	51	0	0	0	1	0	8	51					A	114469150	G	A	114469150	3	1	435	1	0	0	0	0	1	0	0	0	5606	1145	40	1	115	1	FAM70B	13	114469150	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	180916	114469150	700728	6115	27040											
RASA3	22821	broad.mit.edu	37	chr13	114757965	114757965	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgccgggcagactcaccctgCatcttctccagcttgctcat	6	11	8	16	1	4	1	2	0	2	1	5	1	4	1	3	1	4	4	3	1	0	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr13:114757965C>T	ENST00000334062.7	-	22	2362	c.2241G>A	c.(2239-2241)atG>atA	p.M747I	RASA3_ENST00000389544.4_Missense_Mutation_p.M715I	NM_007368.2	NP_031394.2	Q14644	RASA3_HUMAN	RAS p21 protein activator 3	747					calcium ion transmembrane transport (GO:0070588)|intracellular signal transduction (GO:0035556)|negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	calcium-release channel activity (GO:0015278)|GTPase activator activity (GO:0005096)|metal ion binding (GO:0046872)|Ras GTPase activator activity (GO:0005099)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(20)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	47	Lung NSC(43;0.00814)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.016)|all_epithelial(44;0.00577)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.188)	BRCA - Breast invasive adenocarcinoma(86;0.128)			ACTCACCCTGCATCTTCTCCA	0.602																																						ENST00000334062.7																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(20)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	47						c.(2239-2241)atG>atA		RAS p21 protein activator 3							100	74	83					13																	114757965		2203	4297	6500	SO:0001583	missense	22821				intracellular signal transduction|negative regulation of Ras protein signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	calcium-release channel activity|metal ion binding|Ras GTPase activator activity	g.chr13:114757965C>T		CCDS32016.1	13q34	2013-01-10			ENSG00000185989	ENSG00000185989		"Pleckstrin homology (PH) domain containing"	20331	protein-coding gene	gene with protein product		605182				7637787, 9382842	Standard	NM_007368		Approved	GAP1IP4BP, GAPIII	uc001vui.3	Q14644	OTTHUMG00000017399	ENST00000334062.7:c.2241G>A	13.37:g.114757965C>T	ENSP00000335029:p.Met747Ile					RASA3_ENST00000389544.4_Missense_Mutation_p.M715I	p.M747I	NM_007368.2	NP_031394.2	Q14644	RASA3_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.128)		22	2362	-	Lung NSC(43;0.00814)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.016)|all_epithelial(44;0.00577)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.188)	747					A6NL15|F8W6X8|Q8IUY2	Missense_Mutation	SNP	ENST00000334062.7	37	c.2241G>A	CCDS32016.1	.	.	.	.	.	.	.	.	.	.	C	18.83	3.706372	0.68615	.	.	ENSG00000185989	ENST00000334062;ENST00000389544	D;D	0.85556	-1.9;-2.0	5.05	5.05	0.67936	.	0.000000	0.85682	D	0.000000	D	0.87200	0.6118	M	0.68952	2.095	0.80722	D	1	P	0.35124	0.485	B	0.42422	0.387	D	0.85756	0.1346	9	.	.	.	.	18.4236	0.90600	0.0:1.0:0.0:0.0	.	747	Q14644	RASA3_HUMAN	I	747;715	ENSP00000335029:M747I;ENSP00000374195:M715I	.	M	-	3	0	RASA3	113776067	1.000000	0.71417	1.000000	0.80357	0.881000	0.50899	6.879000	0.75572	2.353000	0.79882	0.655000	0.94253	ATG		0.602	RASA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045957.2	NM_007368		16	24	0	0	0	1	0	16	24					T	114757965	C	T	114757965	3	4	435	1	0	0	0	0	1	0	0	0	13062	710	25	3	275	3	RASA3	13	114757965	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	288815	114757965	411913	6116	27041											
OR4M1	441670	broad.mit.edu	37	chr14	20248781	20248781	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tttggtggatgcattgcacaGctcttcttcttacactttgt	6	18	8	9	0	3	0	0	0	3	0	3	1	3	1	0	2	4	3	0	2	1	6			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:20248781G>A	ENST00000315957.4	+	1	381	c.300G>A	c.(298-300)caG>caA	p.Q100Q		NM_001005500.1	NP_001005500.1	Q8NGD0	OR4M1_HUMAN	olfactory receptor, family 4, subfamily M, member 1	100						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(32)|prostate(1)|skin(2)	42	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		GCATTGCACAGCTCTTCTTCT	0.468																																						ENST00000315957.4																			0				NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(32)|prostate(1)|skin(2)	42						c.(298-300)caG>caA		olfactory receptor, family 4, subfamily M, member 1							245	264	257					14																	20248781		2203	4300	6503	SO:0001819	synonymous_variant	441670				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20248781G>A		CCDS32021.1	14q11.2	2013-09-23			ENSG00000176299	ENSG00000176299		"GPCR / Class A : Olfactory receptors"	14735	protein-coding gene	gene with protein product							Standard	NM_001005500		Approved		uc010tku.2	Q8NGD0	OTTHUMG00000170599	ENST00000315957.4:c.300G>A	14.37:g.20248781G>A							p.Q100Q	NM_001005500.1	NP_001005500.1	Q8NGD0	OR4M1_HUMAN	Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)	1	381	+	all_cancers(95;0.00108)		100					B9EH18|Q6IFA3	Silent	SNP	ENST00000315957.4	37	c.300G>A	CCDS32021.1																																																																																				0.468	OR4M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409770.1			63	111	0	0	0	1	0	63	111					A	20248781	G	A	20248781	2	1	435	1	0	0	0	0	0	0	0	1	11075	962	34	3		3	OR4M1	14	20248781	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08		20248781	87100759	6117	27042											
OR4K15	81127	broad.mit.edu	37	chr14	20444037	20444037	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aagactatttcttttgatgcCtgcctggcccagattttctt	7	17	7	10	0	2	3	0	1	2	2	2	3	2	3	3	1	2	0	3	1	2	7			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:20444037C>A	ENST00000305051.5	+	1	435	c.360C>A	c.(358-360)gcC>gcA	p.A120A		NM_001005486.1	NP_001005486.1	Q8NH41	OR4KF_HUMAN	olfactory receptor, family 4, subfamily K, member 15	120						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|ovary(1)|prostate(2)|skin(1)|stomach(1)	39	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;3.58e-06)	GBM - Glioblastoma multiforme(265;0.00327)		CTTTTGATGCCTGCCTGGCCC	0.433																																						ENST00000305051.5																			0				endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|ovary(1)|prostate(2)|skin(1)|stomach(1)	39						c.(358-360)gcC>gcA		olfactory receptor, family 4, subfamily K, member 15							140	140	140					14																	20444037		2203	4299	6502	SO:0001819	synonymous_variant	81127				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20444037C>A		CCDS32026.1	14q11.2	2013-09-23			ENSG00000169488	ENSG00000169488		"GPCR / Class A : Olfactory receptors"	15353	protein-coding gene	gene with protein product							Standard	NM_001005486		Approved	OR4K15Q	uc010tkx.2	Q8NH41	OTTHUMG00000170635	ENST00000305051.5:c.360C>A	14.37:g.20444037C>A							p.A120A	NM_001005486.1	NP_001005486.1	Q8NH41	OR4KF_HUMAN	Epithelial(56;9.96e-07)|all cancers(55;3.58e-06)	GBM - Glioblastoma multiforme(265;0.00327)	1	435	+	all_cancers(95;0.00108)		120					B9EIL3|Q6IEZ4	Silent	SNP	ENST00000305051.5	37	c.360C>A	CCDS32026.1																																																																																				0.433	OR4K15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409883.1			23	75	1	0	2.21704e-12	1	2.3975e-12	23	75					A	20444037	C	A	20444037	2	1	435	1	0	0	0	0	0	0	0	1	11070	668	24	5		5	OR4K15	14	20444037	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	195256	20444037	86905503	6118	27043											
OR4K15	81127	broad.mit.edu	37	chr14	20444660	20444660	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tatgtcaaaactgaagagtcGgtatctgaagcctagtcagg	13	10	11	7	1	3	3	2	2	1	1	4	3	3	3	1	2	2	1	1	2	7	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:20444660G>A	ENST00000305051.5	+	1	1058	c.983G>A	c.(982-984)cGg>cAg	p.R328Q		NM_001005486.1	NP_001005486.1	Q8NH41	OR4KF_HUMAN	olfactory receptor, family 4, subfamily K, member 15	328						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|ovary(1)|prostate(2)|skin(1)|stomach(1)	39	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;3.58e-06)	GBM - Glioblastoma multiforme(265;0.00327)		CTGAAGAGTCGGTATCTGAAG	0.388																																						ENST00000305051.5																			0				endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|ovary(1)|prostate(2)|skin(1)|stomach(1)	39						c.(982-984)cGg>cAg		olfactory receptor, family 4, subfamily K, member 15							60	63	62					14																	20444660		2201	4295	6496	SO:0001583	missense	81127				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20444660G>A		CCDS32026.1	14q11.2	2013-09-23			ENSG00000169488	ENSG00000169488		"GPCR / Class A : Olfactory receptors"	15353	protein-coding gene	gene with protein product							Standard	NM_001005486		Approved	OR4K15Q	uc010tkx.2	Q8NH41	OTTHUMG00000170635	ENST00000305051.5:c.983G>A	14.37:g.20444660G>A	ENSP00000304077:p.Arg328Gln						p.R328Q	NM_001005486.1	NP_001005486.1	Q8NH41	OR4KF_HUMAN	Epithelial(56;9.96e-07)|all cancers(55;3.58e-06)	GBM - Glioblastoma multiforme(265;0.00327)	1	1058	+	all_cancers(95;0.00108)		328					B9EIL3|Q6IEZ4	Missense_Mutation	SNP	ENST00000305051.5	37	c.983G>A	CCDS32026.1	.	.	.	.	.	.	.	.	.	.	.	0.515	-0.864917	0.02590	.	.	ENSG00000169488	ENST00000305051	T	0.39056	1.1	3.69	0.721	0.18219	.	0.750110	0.11490	N	0.558806	T	0.20780	0.0500	N	0.25380	0.74	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.30880	-0.9963	10	0.02654	T	1	.	3.6271	0.08117	0.3307:0.1907:0.4786:0.0	.	328	Q8NH41	OR4KF_HUMAN	Q	328	ENSP00000304077:R328Q	ENSP00000304077:R328Q	R	+	2	0	OR4K15	19514500	0.000000	0.05858	0.152000	0.22495	0.818000	0.46254	0.209000	0.17435	0.031000	0.15407	-0.218000	0.12543	CGG		0.388	OR4K15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409883.1			21	32	0	0	0	1	0	21	32					A	20444660	G	A	20444660	3	1	435	1	0	0	0	0	1	0	0	0	11070	1116	39	2	985	2	OR4K15	14	20444660	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	623	20444660	86904880	6119	27044											
OR4K14	122740	broad.mit.edu	37	chr14	20482668	20482668	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggatgtgctaccggcagcacGctgtctgatagcgaggagga	9	7	16	9	3	1	1	0	1	1	0	1	5	1	4	1	4	4	4	1	4	2	2	rs532165188		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:20482668G>A	ENST00000305045.2	-	1	684	c.685C>T	c.(685-687)Cgt>Tgt	p.R229C		NM_001004712.1	NP_001004712.1	Q8NGD5	OR4KE_HUMAN	olfactory receptor, family 4, subfamily K, member 14	229						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(20)|skin(6)	37	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2e-06)	GBM - Glioblastoma multiforme(265;0.00124)		CCGGCAGCACGCTGTCTGATA	0.498																																						ENST00000305045.2																			0				breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(20)|skin(6)	37						c.(685-687)Cgt>Tgt		olfactory receptor, family 4, subfamily K, member 14							93	76	82					14																	20482668		2203	4300	6503	SO:0001583	missense	122740				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20482668G>A		CCDS32027.1	14q11.2	2013-09-23			ENSG00000169484	ENSG00000169484		"GPCR / Class A : Olfactory receptors"	15352	protein-coding gene	gene with protein product							Standard	NM_001004712		Approved		uc010tky.2	Q8NGD5	OTTHUMG00000170780	ENST00000305045.2:c.685C>T	14.37:g.20482668G>A	ENSP00000305011:p.Arg229Cys						p.R229C	NM_001004712.1	NP_001004712.1	Q8NGD5	OR4KE_HUMAN	Epithelial(56;4.65e-07)|all cancers(55;2e-06)	GBM - Glioblastoma multiforme(265;0.00124)	1	684	-	all_cancers(95;0.00108)		229					Q6IEU1|Q96R71	Missense_Mutation	SNP	ENST00000305045.2	37	c.685C>T	CCDS32027.1	.	.	.	.	.	.	.	.	.	.	.	10.40	1.339712	0.24339	.	.	ENSG00000169484	ENST00000305045	T	0.00107	8.72	4.04	0.776	0.18532	GPCR, rhodopsin-like superfamily (1);	0.876756	0.09606	N	0.779598	T	0.00271	0.0008	L	0.41824	1.3	0.09310	N	1	D	0.69078	0.997	D	0.65140	0.932	T	0.56637	-0.7946	10	0.87932	D	0	.	8.2524	0.31735	0.0:0.1386:0.4371:0.4243	.	229	Q8NGD5	OR4KE_HUMAN	C	229	ENSP00000305011:R229C	ENSP00000305011:R229C	R	-	1	0	OR4K14	19552508	0.000000	0.05858	0.002000	0.10522	0.339000	0.28857	0.051000	0.14141	0.310000	0.22990	0.505000	0.49811	CGT		0.498	OR4K14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410343.1			5	16	0	0	0	1	0	5	16					A	20482668	G	A	20482668	3	1	435	1	0	0	0	0	1	0	0	0	11069	1087	38	1	250	1	OR4K14	14	20482668	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	38008	20482668	86866872	6120	27045											
OR4L1	122742	broad.mit.edu	37	chr14	20528812	20528812	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttatttgtcattgctgacagCgggctgctctctttcacctg	5	16	9	11	1	3	1	2	1	1	0	4	1	3	1	1	1	3	3	1	1	1	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:20528812C>T	ENST00000315683.1	+	1	609	c.609C>T	c.(607-609)agC>agT	p.S203S		NM_001004717.1	NP_001004717.1	Q8NH43	OR4L1_HUMAN	olfactory receptor, family 4, subfamily L, member 1	203						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(16)|ovary(2)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0064)		TTGCTGACAGCGGGCTGCTCT	0.433																																						ENST00000315683.1																			0				central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(16)|ovary(2)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						c.(607-609)agC>agT		olfactory receptor, family 4, subfamily L, member 1							236	217	223					14																	20528812		2203	4300	6503	SO:0001819	synonymous_variant	122742				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20528812C>T		CCDS32029.1	14q11.2	2013-09-23			ENSG00000176246	ENSG00000176246		"GPCR / Class A : Olfactory receptors"	15356	protein-coding gene	gene with protein product				OR4L2P			Standard	NM_001004717		Approved		uc001vwn.1	Q8NH43	OTTHUMG00000169492	ENST00000315683.1:c.609C>T	14.37:g.20528812C>T							p.S203S	NM_001004717.1	NP_001004717.1	Q8NH43	OR4L1_HUMAN	Epithelial(56;4.65e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0064)	1	609	+	all_cancers(95;0.00108)		203					Q6IEZ5	Silent	SNP	ENST00000315683.1	37	c.609C>T	CCDS32029.1																																																																																				0.433	OR4L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404381.1			43	68	0	0	0	1	0	43	68					T	20528812	C	T	20528812	2	4	435	1	0	0	0	0	0	0	0	1	11074	767	27	1		1	OR4L1	14	20528812	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	46144	20528812	86820728	6121	27046											
OR4K17	390436	broad.mit.edu	37	chr14	20586419	20586419	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gattctcttctttggcccatGcatctttatctacatttggc	6	18	6	11	0	4	0	0	0	4	0	5	1	4	0	1	2	2	1	1	2	2	7			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:20586419G>A	ENST00000315543.4	+	1	854	c.854G>A	c.(853-855)tGc>tAc	p.C285Y		NM_001004715.1	NP_001004715.1	Q8NGC6	OR4KH_HUMAN	olfactory receptor, family 4, subfamily K, member 17	257						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			kidney(1)|large_intestine(4)|lung(12)|pancreas(1)|skin(3)	21	all_cancers(95;0.00108)		Epithelial(56;7.58e-07)|all cancers(55;3.77e-06)	GBM - Glioblastoma multiforme(265;0.0144)		TTTGGCCCATGCATCTTTATC	0.423																																						ENST00000315543.4																			0				kidney(1)|large_intestine(4)|lung(12)|pancreas(1)|skin(3)	21						c.(853-855)tGc>tAc		olfactory receptor, family 4, subfamily K, member 17							122	110	114					14																	20586419		2203	4300	6503	SO:0001583	missense	390436				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20586419G>A		CCDS32030.1	14q11.2	2013-09-23			ENSG00000176230	ENSG00000176230		"GPCR / Class A : Olfactory receptors"	15355	protein-coding gene	gene with protein product							Standard	NM_001004715		Approved		uc001vwo.1	Q8NGC6	OTTHUMG00000170783	ENST00000315543.4:c.854G>A	14.37:g.20586419G>A	ENSP00000319197:p.Cys285Tyr						p.C285Y	NM_001004715.1	NP_001004715.1	Q8NGC6	OR4KH_HUMAN	Epithelial(56;7.58e-07)|all cancers(55;3.77e-06)	GBM - Glioblastoma multiforme(265;0.0144)	1	854	+	all_cancers(95;0.00108)		257					Q6IF12	Missense_Mutation	SNP	ENST00000315543.4	37	c.854G>A	CCDS32030.1	.	.	.	.	.	.	.	.	.	.	.	4.596	0.110743	0.08780	.	.	ENSG00000176230	ENST00000315543	T	0.00069	8.77	2.86	1.82	0.25136	GPCR, rhodopsin-like superfamily (1);	0.000000	0.37348	U	0.002132	T	0.00241	0.0007	M	0.87971	2.92	0.09310	N	1	P	0.37061	0.58	B	0.38500	0.275	T	0.13176	-1.0519	10	0.87932	D	0	.	10.263	0.43438	0.0:0.0:0.8025:0.1975	.	257	Q8NGC6	OR4KH_HUMAN	Y	285	ENSP00000319197:C285Y	ENSP00000319197:C285Y	C	+	2	0	OR4K17	19656259	0.000000	0.05858	0.562000	0.28370	0.175000	0.22909	0.002000	0.13061	1.579000	0.49836	0.404000	0.27445	TGC		0.423	OR4K17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410346.1			18	30	0	0	0	1	0	18	30					A	20586419	G	A	20586419	3	1	435	1	0	0	0	0	1	0	0	0	11071	1319	46	3	856	3	OR4K17	14	20586419	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	57607	20586419	86763121	6122	27047											
TEP1	7011	broad.mit.edu	37	chr14	20871916	20871916	+	Missense_Mutation	SNP	G	G	A																															gccggcgggggtgtctcttgGcccggtgcttccgagggttg																										TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:20871916G>A	ENST00000262715.5	-	6	1200	c.1160C>T	c.(1159-1161)gCc>gTc	p.A387V	TEP1_ENST00000556935.1_Intron	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	387	TROVE. {ECO:0000255|PROSITE- ProRule:PRU00343}.				RNA-dependent DNA replication (GO:0006278)|telomere maintenance via recombination (GO:0000722)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|ribonucleoprotein complex (GO:0030529)|telomerase holoenzyme complex (GO:0005697)	ATP binding (GO:0005524)|RNA binding (GO:0003723)			NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		GTGTCTCTTGGCCCGGTGCTT	0.637																																						ENST00000262715.5																			0				NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96						c.(1159-1161)gCc>gTc		telomerase-associated protein 1							73	83	79					14																	20871916		2203	4300	6503	SO:0001583	missense	7011				telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding	g.chr14:20871916G>A		CCDS9548.1	14q11.2	2013-01-10			ENSG00000129566	ENSG00000129566		"WD repeat domain containing"	11726	protein-coding gene	gene with protein product	"TROVE domain family, member 1"	601686				9403057	Standard	NM_007110		Approved	TP1, TLP1, VAULT2, p240, TROVE1	uc001vxe.3	Q99973	OTTHUMG00000029515	ENST00000262715.5:c.1160C>T	14.37:g.20871916G>A	ENSP00000262715:p.Ala387Val					TEP1_ENST00000556935.1_Intron	p.A387V	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)	6	1200	-	all_cancers(95;0.00123)	all_lung(585;0.235)	387			TROVE.		A0AUV9	Missense_Mutation	SNP	ENST00000262715.5	37	c.1160C>T	CCDS9548.1	.	.	.	.	.	.	.	.	.	.	G	23.9	4.473198	0.84640	.	.	ENSG00000129566	ENST00000262715;ENST00000359243	T	0.14766	2.48	5.54	5.54	0.83059	TROVE (2);	0.187674	0.45126	D	0.000392	T	0.31009	0.0783	M	0.68952	2.095	0.80722	D	1	D	0.58268	0.982	P	0.59825	0.864	T	0.00891	-1.1525	10	0.59425	D	0.04	-13.2582	13.1421	0.59440	0.0:0.2712:0.7288:0.0	.	387	Q99973	TEP1_HUMAN	V	387	ENSP00000262715:A387V	ENSP00000262715:A387V	A	-	2	0	TEP1	19941756	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	3.390000	0.52523	2.601000	0.87937	0.655000	0.94253	GCC		0.637	TEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073563.2	NM_007110		27	42	0	0	0	1	0	27	42					A	20871916	G	A	20871916	3	1	435	1	0	0	0	0	1	0	0	0	15756	1203	42	3	6923	3	TEP1	14	20871916	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	285497	20871916	86477624	6123	27048	126	2									
TEP1	7011	broad.mit.edu	37	chr14	20871919	20871919	+	Missense_Mutation	SNP	C	C	T																															ggcgggggtgtctcttggccCggtgcttccgagggttgtac																								rs145795987	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:20871919C>T	ENST00000262715.5	-	6	1197	c.1157G>A	c.(1156-1158)cGg>cAg	p.R386Q	TEP1_ENST00000556935.1_Intron	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	386	TROVE. {ECO:0000255|PROSITE- ProRule:PRU00343}.				RNA-dependent DNA replication (GO:0006278)|telomere maintenance via recombination (GO:0000722)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|ribonucleoprotein complex (GO:0030529)|telomerase holoenzyme complex (GO:0005697)	ATP binding (GO:0005524)|RNA binding (GO:0003723)			NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		TCTCTTGGCCCGGTGCTTCCG	0.637													C|||	5	0.000998403	0.0038	0	5008	,	,		16213	0		0	False		,,,				2504	0					ENST00000262715.5																			0				NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96						c.(1156-1158)cGg>cAg		telomerase-associated protein 1		C	GLN/ARG	15,4391	23.3+/-48.9	0,15,2188	74	84	81		1157	5.5	1	14	dbSNP_134	81	2,8598	2.2+/-6.3	0,2,4298	yes	missense	TEP1	NM_007110.4	43	0,17,6486	TT,TC,CC		0.0233,0.3404,0.1307	probably-damaging	386/2628	20871919	17,12989	2203	4300	6503	SO:0001583	missense	7011				telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding	g.chr14:20871919C>T		CCDS9548.1	14q11.2	2013-01-10			ENSG00000129566	ENSG00000129566		"WD repeat domain containing"	11726	protein-coding gene	gene with protein product	"TROVE domain family, member 1"	601686				9403057	Standard	NM_007110		Approved	TP1, TLP1, VAULT2, p240, TROVE1	uc001vxe.3	Q99973	OTTHUMG00000029515	ENST00000262715.5:c.1157G>A	14.37:g.20871919C>T	ENSP00000262715:p.Arg386Gln					TEP1_ENST00000556935.1_Intron	p.R386Q	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)	6	1197	-	all_cancers(95;0.00123)	all_lung(585;0.235)	386			TROVE.		A0AUV9	Missense_Mutation	SNP	ENST00000262715.5	37	c.1157G>A	CCDS9548.1	3	0.0013736263736263737	3	0.006097560975609756	0	0.0	0	0.0	0	0.0	C	35	5.434921	0.96150	0.003404	2.33E-4	ENSG00000129566	ENST00000262715;ENST00000359243	T	0.24908	1.83	5.54	5.54	0.83059	TROVE (2);	0.000000	0.85682	D	0.000000	T	0.46737	0.1408	M	0.79258	2.445	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.54316	-0.8312	10	0.66056	D	0.02	-27.9235	18.2635	0.90044	0.0:1.0:0.0:0.0	.	386	Q99973	TEP1_HUMAN	Q	386	ENSP00000262715:R386Q	ENSP00000262715:R386Q	R	-	2	0	TEP1	19941759	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	6.071000	0.71229	2.601000	0.87937	0.655000	0.94253	CGG		0.637	TEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073563.2	NM_007110		28	42	0	0	0	1	0	28	42					T	20871919	C	T	20871919	3	4	435	1	0	0	0	0	1	0	0	0	15756	652	23	2	6926	2	TEP1	14	20871919	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	3	20871919	86477621	6124	27049	126	2									
METT11D1	64745	broad.mit.edu	37	chr14	21464858	21464858	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcatgctgtgctcacagcccGccggcacggcaggtatgggg	6	6	16	13	3	1	0	1	0	0	0	1	0	1	0	2	5	3	6	2	5	1	1	rs139452603	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:21464858G>A	ENST00000339374.6	+	13	1486	c.1253G>A	c.(1252-1254)cGc>cAc	p.R418H	METTL17_ENST00000556670.2_Missense_Mutation_p.R418H|SLC39A2_ENST00000554422.1_5'Flank|SLC39A2_ENST00000298681.4_5'Flank|METTL17_ENST00000382985.4_Missense_Mutation_p.R418H|RP11-84C10.4_ENST00000557335.1_RNA	NM_001029991.1|NM_022734.2	NP_001025162.1|NP_073571.1	Q9H7H0	MET17_HUMAN	methyltransferase like 17	418					translation (GO:0006412)	mitochondrion (GO:0005739)|ribosome (GO:0005840)	copper ion binding (GO:0005507)|methyltransferase activity (GO:0008168)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|skin(2)	20						CTCACAGCCCGCCGGCACGGC	0.582													G|||	4	0.000798722	0	0.0029	5008	,	,		15629	0		0.002	False		,,,				2504	0					ENST00000339374.6																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|skin(2)	20						c.(1252-1254)cGc>cAc		methyltransferase like 17		G	HIS/ARG,HIS/ARG	0,4406		0,0,2203	87	83	84		1253,1253	3.5	0.9	14	dbSNP_134	84	9,8591	6.4+/-24.3	0,9,4291	yes	missense,missense	METTL17	NM_001029991.1,NM_022734.2	29,29	0,9,6494	AA,AG,GG		0.1047,0.0,0.0692	probably-damaging,probably-damaging	418/479,418/457	21464858	9,12997	2203	4300	6503	SO:0001583	missense	64745				translation	mitochondrion|ribosome	copper ion binding|methyltransferase activity	g.chr14:21464858G>A	AK024512	CCDS9562.1, CCDS41913.1	14q11.2	2011-03-03	2011-03-02	2011-03-02	ENSG00000165792	ENSG00000165792			19280	protein-coding gene	gene with protein product			"methyltransferase 11 domain containing 1"	METT11D1		11278769	Standard	XM_006720235		Approved	FLJ20859	uc001vyn.3	Q9H7H0	OTTHUMG00000029610	ENST00000339374.6:c.1253G>A	14.37:g.21464858G>A	ENSP00000343041:p.Arg418His					METTL17_ENST00000556670.2_Missense_Mutation_p.R418H|METTL17_ENST00000382985.4_Missense_Mutation_p.R418H|RP11-84C10.4_ENST00000557335.1_RNA	p.R418H	NM_001029991.1|NM_022734.2	NP_001025162.1|NP_073571.1	Q9H7H0	MET17_HUMAN			13	1486	+			418					Q9BSH1|Q9BZH2|Q9BZH3	Missense_Mutation	SNP	ENST00000339374.6	37	c.1253G>A	CCDS9562.1	2	9.157509157509158E-4	0	0.0	1	0.0027624309392265192	0	0.0	1	0.0013192612137203166	G	14.95	2.687585	0.48097	0.0	0.001047	ENSG00000165792	ENST00000339374;ENST00000382985	T;T	0.34859	1.4;1.34	5.34	3.5	0.40072	.	0.188949	0.46442	N	0.000285	T	0.38134	0.1029	M	0.83774	2.66	0.41569	D	0.988672	P;B;B	0.36048	0.534;0.302;0.257	B;B;B	0.30105	0.097;0.111;0.067	T	0.34204	-0.9838	10	0.56958	D	0.05	.	10.2603	0.43423	0.1649:0.0:0.8351:0.0	.	418;418;418	Q9H7H0-3;Q9H7H0;Q9H7H0-2	.;MET17_HUMAN;.	H	418	ENSP00000343041:R418H;ENSP00000372445:R418H	ENSP00000343041:R418H	R	+	2	0	METTL17	20534698	0.599000	0.26891	0.879000	0.34478	0.979000	0.70002	1.238000	0.32707	0.625000	0.30304	0.655000	0.94253	CGC		0.582	METTL17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073804.4	NM_022734		20	33	0	0	0	1	0	20	33					A	21464858	G	A	21464858	3	1	435	1	0	0	0	0	1	0	0	0	9491	1087	38	1	1303	1	METT11D1	14	21464858	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	592939	21464858	85884682	6125	27050											
FLJ10357	55701	broad.mit.edu	37	chr14	21541329	21541329	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagaggacttatcgggaggaCgcactgaggtacacgctgga	11	6	16	8	3	0	2	0	1	0	1	1	7	0	6	0	5	1	3	0	5	2	2	rs371983969		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:21541329C>T	ENST00000298694.4	+	2	256	c.129C>T	c.(127-129)gaC>gaT	p.D43D	NDRG2_ENST00000403829.3_5'Flank|ARHGEF40_ENST00000298693.3_Silent_p.D43D			Q8TER5	ARH40_HUMAN	Rho guanine nucleotide exchange factor (GEF) 40	43						cytoplasm (GO:0005737)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			large_intestine(4)|ovary(3)|upper_aerodigestive_tract(2)	9						ATCGGGAGGACGCACTGAGGT	0.607																																						ENST00000298694.4																			0				large_intestine(4)|ovary(3)|upper_aerodigestive_tract(2)	9						c.(127-129)gaC>gaT		Rho guanine nucleotide exchange factor (GEF) 40		C		0,4406		0,0,2203	94	73	80		129	0.8	1	14		80	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	ARHGEF40	NM_018071.3		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		43/1520	21541329	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	55701				regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity	g.chr14:21541329C>T		CCDS32041.1	14q11.2	2012-07-24			ENSG00000165801	ENSG00000165801		"Rho guanine nucleotide exchange factors"	25516	protein-coding gene	gene with protein product		610018				16143467	Standard	NM_001278529		Approved	solo, FLJ10357	uc001vzp.3	Q8TER5		ENST00000298694.4:c.129C>T	14.37:g.21541329C>T						ARHGEF40_ENST00000298693.3_Silent_p.D43D	p.D43D			Q8TER5	ARH40_HUMAN			2	256	+			43					A5PL07|Q9BWP5|Q9H7L6|Q9NTF9|Q9NW24	Silent	SNP	ENST00000298694.4	37	c.129C>T	CCDS32041.1																																																																																				0.607	ARHGEF40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413122.1			8	17	0	0	0	1	0	8	17					T	21541329	C	T	21541329	2	4	435	1	0	0	0	0	0	0	0	1	5926	535	19	1		1	FLJ10357	14	21541329	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	76471	21541329	85808211	6126	27051											
FLJ10357	55701	broad.mit.edu	37	chr14	21543039	21543039	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aaggaaacagaagaaagaagCgagctgcaggtcgaggggct	16	3	16	6	2	0	3	0	0	0	3	1	6	0	4	0	4	4	3	0	4	5	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:21543039C>T	ENST00000298694.4	+	3	1277	c.1150C>T	c.(1150-1152)Cga>Tga	p.R384*	ARHGEF40_ENST00000298693.3_Nonsense_Mutation_p.R384*			Q8TER5	ARH40_HUMAN	Rho guanine nucleotide exchange factor (GEF) 40	384	Gly-rich.					cytoplasm (GO:0005737)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			large_intestine(4)|ovary(3)|upper_aerodigestive_tract(2)	9						AAGAAAGAAGCGAGCTGCAGG	0.617																																						ENST00000298694.4																			0				large_intestine(4)|ovary(3)|upper_aerodigestive_tract(2)	9						c.(1150-1152)Cga>Tga		Rho guanine nucleotide exchange factor (GEF) 40							73	62	66					14																	21543039		2203	4300	6503	SO:0001587	stop_gained	55701				regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity	g.chr14:21543039C>T		CCDS32041.1	14q11.2	2012-07-24			ENSG00000165801	ENSG00000165801		"Rho guanine nucleotide exchange factors"	25516	protein-coding gene	gene with protein product		610018				16143467	Standard	NM_001278529		Approved	solo, FLJ10357	uc001vzp.3	Q8TER5		ENST00000298694.4:c.1150C>T	14.37:g.21543039C>T	ENSP00000298694:p.Arg384*					ARHGEF40_ENST00000298693.3_Nonsense_Mutation_p.R384*	p.R384*			Q8TER5	ARH40_HUMAN			3	1277	+			384			Gly-rich.		A5PL07|Q9BWP5|Q9H7L6|Q9NTF9|Q9NW24	Nonsense_Mutation	SNP	ENST00000298694.4	37	c.1150C>T	CCDS32041.1	.	.	.	.	.	.	.	.	.	.	C	36	5.625322	0.96671	.	.	ENSG00000165801	ENST00000298694;ENST00000555038;ENST00000298693	.	.	.	5.14	2.16	0.27623	.	0.000000	0.42821	D	0.000652	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	5.4771	0.16702	0.4067:0.4964:0.0:0.0969	.	.	.	.	X	384	.	ENSP00000298693:R384X	R	+	1	2	ARHGEF40	20612879	1.000000	0.71417	1.000000	0.80357	0.813000	0.45954	0.612000	0.24283	0.602000	0.29896	-0.521000	0.04368	CGA		0.617	ARHGEF40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413122.1			12	22	0	0	0	1	0	12	22					T	21543039	C	T	21543039	4	4	435	1	0	0	0	0	0	1	0	0	5926	760	27	1	1160	1	FLJ10357	14	21543039	Nonsense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	1710	21543039	85806501	6127	27052											
ZNF219	51222	broad.mit.edu	37	chr14	21561142	21561142	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggcgctcgggctggtgtgtgCgcaggtgcgagcgcagcaga	5	6	20	10	5	0	1	0	0	0	1	1	2	0	1	0	4	4	5	0	4	0	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:21561142C>T	ENST00000360947.3	-	3	725	c.314G>A	c.(313-315)cGc>cAc	p.R105H	ZNF219_ENST00000451119.2_Missense_Mutation_p.R105H|ZNF219_ENST00000421093.2_Missense_Mutation_p.R105H|RP11-998D10.7_ENST00000554733.2_lincRNA|ZNF219_ENST00000556101.1_5'Flank	NM_016423.2	NP_057507.2	Q9P2Y4	ZN219_HUMAN	zinc finger protein 219	105					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of neurotransmitter levels (GO:0001505)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histamine receptor activity (GO:0004969)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(1)|ovary(1)|prostate(2)	8	all_cancers(95;0.00185)		OV - Ovarian serous cystadenocarcinoma(11;9.86e-11)|Epithelial(56;1.27e-08)|all cancers(55;6.06e-08)	GBM - Glioblastoma multiforme(265;0.0191)		CTGGTGTGTGCGCAGGTGCGA	0.711											OREG0022565	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000360947.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(1)|ovary(1)|prostate(2)	8						c.(313-315)cGc>cAc		zinc finger protein 219							12	14	13					14																	21561142		2192	4271	6463	SO:0001583	missense	0				negative regulation of transcription, DNA-dependent	integral to membrane|nucleus	DNA binding|histamine receptor activity|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr14:21561142C>T	AB015427	CCDS9568.1	14q11	2013-01-08			ENSG00000165804	ENSG00000165804		"Zinc fingers, C2H2-type"	13011	protein-coding gene	gene with protein product		605036				10819330	Standard	NM_016423		Approved		uc001vzs.2	Q9P2Y4	OTTHUMG00000029647	ENST00000360947.3:c.314G>A	14.37:g.21561142C>T	ENSP00000354206:p.Arg105His		OREG0022565	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	749	ZNF219_ENST00000451119.2_Missense_Mutation_p.R105H|ZNF219_ENST00000421093.2_Missense_Mutation_p.R105H	p.R105H	NM_016423.2	NP_057507.2	Q9P2Y4	ZN219_HUMAN	OV - Ovarian serous cystadenocarcinoma(11;9.86e-11)|Epithelial(56;1.27e-08)|all cancers(55;6.06e-08)	GBM - Glioblastoma multiforme(265;0.0191)	3	725	-	all_cancers(95;0.00185)		105					D3DS16|Q53Y57|Q8IYC1|Q9BW28	Missense_Mutation	SNP	ENST00000360947.3	37	c.314G>A	CCDS9568.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.303530	0.81136	.	.	ENSG00000165804	ENST00000360947;ENST00000451119;ENST00000421093;ENST00000555270;ENST00000554478;ENST00000556174;ENST00000554923;ENST00000553296	T;T;T;T;T;T;T;T	0.58506	0.33;0.33;0.33;0.33;0.33;0.33;0.33;0.33	4.81	4.81	0.61882	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.085998	0.47093	D	0.000245	T	0.73466	0.3590	M	0.68593	2.085	0.39459	D	0.967533	D	0.89917	1.0	D	0.73380	0.98	T	0.77787	-0.2457	10	0.87932	D	0	-19.011	15.432	0.75108	0.0:1.0:0.0:0.0	.	105	Q9P2Y4	ZN219_HUMAN	H	105;105;105;105;151;105;142;105	ENSP00000354206:R105H;ENSP00000388558:R105H;ENSP00000392401:R105H;ENSP00000450803:R105H;ENSP00000451212:R151H;ENSP00000450609:R105H;ENSP00000451890:R142H;ENSP00000450900:R105H	ENSP00000354206:R105H	R	-	2	0	ZNF219	20630982	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.372000	0.52387	2.495000	0.84180	0.655000	0.94253	CGC		0.711	ZNF219-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073931.2			4	13	0	0	0	1	0	4	13					T	21561142	C	T	21561142	3	4	435	1	0	0	0	0	1	0	0	0	17770	768	27	1	1866	1	ZNF219	14	21561142	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	18103	21561142	85788398	6128	27053											
SUPT16H	11198	broad.mit.edu	37	chr14	21829364	21829364	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtgccttaatatttgatgctCggtatgtactgcagaaaagc	11	13	10	7	1	0	2	0	1	0	1	1	2	0	2	1	1	5	4	1	1	6	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:21829364C>T	ENST00000216297.2	-	16	2140	c.1802G>A	c.(1801-1803)cGa>cAa	p.R601Q		NM_007192.3	NP_009123.1	Q9Y5B9	SP16H_HUMAN	suppressor of Ty 16 homolog (S. cerevisiae)	601					DNA repair (GO:0006281)|DNA replication (GO:0006260)|gene expression (GO:0010467)|nucleosome disassembly (GO:0006337)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|positive regulation of viral transcription (GO:0050434)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_cancers(95;0.00115)		Epithelial(56;1.62e-06)|all cancers(55;1.49e-05)	GBM - Glioblastoma multiforme(265;0.0159)		ATTTGATGCTCGGTATGTACT	0.368																																						ENST00000216297.2																			0				breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27						c.(1801-1803)cGa>cAa		suppressor of Ty 16 homolog (S. cerevisiae)							101	101	101					14																	21829364		2203	4300	6503	SO:0001583	missense	11198				DNA repair|DNA replication|nucleosome disassembly|positive regulation of transcription elongation, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	chromosome|nucleoplasm	GTP binding	g.chr14:21829364C>T	AF152961	CCDS9569.1	14q11.1	2008-08-13	2001-11-28		ENSG00000092201	ENSG00000092201			11465	protein-coding gene	gene with protein product	"facilitates chromatin remodeling 140 kDa subunit"	605012	"suppressor of Ty (S.cerevisiae) 16 homolog"			9489704, 11239457	Standard	NM_007192		Approved	FACT, FACTP140, SPT16/CDC68, FLJ14010, FLJ10857, CDC68	uc001wao.2	Q9Y5B9	OTTHUMG00000029685	ENST00000216297.2:c.1802G>A	14.37:g.21829364C>T	ENSP00000216297:p.Arg601Gln						p.R601Q	NM_007192.3	NP_009123.1	Q9Y5B9	SP16H_HUMAN	Epithelial(56;1.62e-06)|all cancers(55;1.49e-05)	GBM - Glioblastoma multiforme(265;0.0159)	16	2140	-	all_cancers(95;0.00115)		601					Q6GMT8|Q6P2F1|Q6PJM1|Q9NRX0	Missense_Mutation	SNP	ENST00000216297.2	37	c.1802G>A	CCDS9569.1	.	.	.	.	.	.	.	.	.	.	C	34	5.339970	0.95783	.	.	ENSG00000092201	ENST00000216297	.	.	.	5.52	5.52	0.82312	FACT complex subunit Spt16p/Cdc68p (1);	0.000000	0.85682	D	0.000000	D	0.87297	0.6142	H	0.94620	3.56	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.90565	0.4518	9	0.87932	D	0	-4.7938	18.2076	0.89859	0.0:1.0:0.0:0.0	.	601	Q9Y5B9	SP16H_HUMAN	Q	601	.	ENSP00000216297:R601Q	R	-	2	0	SUPT16H	20899204	1.000000	0.71417	1.000000	0.80357	0.830000	0.47004	6.907000	0.75724	2.596000	0.87737	0.585000	0.79938	CGA		0.368	SUPT16H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000074025.2			35	67	0	0	0	1	0	35	67					T	21829364	C	T	21829364	3	4	435	1	0	0	0	0	1	0	0	0	15393	884	31	2	1385	2	SUPT16H	14	21829364	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	268222	21829364	85520176	6129	27054											
CHD8	57680	broad.mit.edu	37	chr14	21860888	21860888	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	attcctcctgttaccatttcCtggctcctacggctagaagg	7	13	8	13	1	0	1	0	0	0	1	4	1	4	1	5	3	2	3	5	3	4	5			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:21860888C>A	ENST00000557364.1	-	34	6812	c.6549G>T	c.(6547-6549)caG>caT	p.Q2183H	SNORD9_ENST00000362566.1_RNA|CHD8_ENST00000399982.2_Missense_Mutation_p.Q2183H|CHD8_ENST00000555962.1_5'Flank|CHD8_ENST00000430710.3_Missense_Mutation_p.Q1904H			Q9HCK8	CHD8_HUMAN	chromodomain helicase DNA binding protein 8	2183					ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|canonical Wnt signaling pathway (GO:0060070)|DNA duplex unwinding (GO:0032508)|in utero embryonic development (GO:0001701)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of Wnt signaling pathway (GO:0030178)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	MLL1 complex (GO:0071339)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|beta-catenin binding (GO:0008013)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA-dependent ATPase activity (GO:0008094)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|p53 binding (GO:0002039)			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)		TTACCATTTCCTGGCTCCTAC	0.522																																						ENST00000399982.2																			0				NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85						c.(6547-6549)caG>caT		chromodomain helicase DNA binding protein 8							136	137	137					14																	21860888		1983	4165	6148	SO:0001583	missense	57680				ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	MLL1 complex	ATP binding|beta-catenin binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|methylated histone residue binding|p53 binding	g.chr14:21860888C>A	AB046784	CCDS45081.1, CCDS53885.1	14q11.2	2008-02-05	2004-06-22	2004-06-23		ENSG00000100888			20153	protein-coding gene	gene with protein product		610528	"helicase with SNF2 domain 1"	HELSNF1		10997877	Standard	NM_020920		Approved	KIAA1564, DUPLIN	uc001war.2	Q9HCK8		ENST00000557364.1:c.6549G>T	14.37:g.21860888C>A	ENSP00000451601:p.Gln2183His					CHD8_ENST00000430710.3_Missense_Mutation_p.Q1904H|CHD8_ENST00000557364.1_Missense_Mutation_p.Q2183H	p.Q2183H	NM_001170629.1	NP_001164100.1	Q9HCK8	CHD8_HUMAN	Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)	33	6613	-	all_cancers(95;0.00121)		2183					Q4G0D8|Q68DQ0|Q6DKH9|Q6P440|Q6ZNL7|Q8N3Z9|Q8NCY4|Q8TBR9|Q96F26	Missense_Mutation	SNP	ENST00000557364.1	37	c.6549G>T	CCDS53885.1	.	.	.	.	.	.	.	.	.	.	C	7.304	0.613593	0.14066	.	.	ENSG00000100888	ENST00000430710;ENST00000399982;ENST00000262707;ENST00000557364;ENST00000553870	T;T;T;T	0.71698	-0.59;-0.59;-0.59;-0.59	5.21	3.25	0.37280	.	0.243627	0.36591	N	0.002502	T	0.41511	0.1162	N	0.03608	-0.345	0.28585	N	0.909933	B	0.12013	0.005	B	0.10450	0.005	T	0.23226	-1.0194	10	0.23302	T	0.38	-14.5299	6.4351	0.21819	0.0:0.6617:0.1561:0.1822	.	1904	Q9HCK8-2	.	H	1904;2183;1903;2183;20	ENSP00000406288:Q1904H;ENSP00000382863:Q2183H;ENSP00000451601:Q2183H;ENSP00000451071:Q20H	ENSP00000262707:Q1903H	Q	-	3	2	CHD8	20930728	.	.	1.000000	0.80357	0.882000	0.50991	.	.	1.423000	0.47198	0.561000	0.74099	CAG		0.522	CHD8-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410436.1	NM_020920		12	68	1	0	7.03913e-09	1	7.44699e-09	12	68					A	21860888	C	A	21860888	3	1	435	1	0	0	0	0	1	0	0	0	3331	680	24	5	1216	5	CHD8	14	21860888	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	31524	21860888	85488652	6130	27055											
CHD8	57680	broad.mit.edu	37	chr14	21861824	21861824	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agtatcagagggggatactcGcatctcatagtcttgtgggg	9	11	14	7	1	3	1	2	0	2	1	5	2	3	2	0	4	1	2	0	4	3	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:21861824G>A	ENST00000557364.1	-	32	6393	c.6130C>T	c.(6130-6132)Cga>Tga	p.R2044*	SNORD9_ENST00000362566.1_RNA|CHD8_ENST00000399982.2_Nonsense_Mutation_p.R2044*|CHD8_ENST00000555962.1_5'Flank|CHD8_ENST00000430710.3_Nonsense_Mutation_p.R1765*			Q9HCK8	CHD8_HUMAN	chromodomain helicase DNA binding protein 8	2044					ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|canonical Wnt signaling pathway (GO:0060070)|DNA duplex unwinding (GO:0032508)|in utero embryonic development (GO:0001701)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of Wnt signaling pathway (GO:0030178)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	MLL1 complex (GO:0071339)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|beta-catenin binding (GO:0008013)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA-dependent ATPase activity (GO:0008094)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|p53 binding (GO:0002039)			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)		GGGGATACTCGCATCTCATAG	0.552																																						ENST00000399982.2																			0				NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85						c.(6130-6132)Cga>Tga		chromodomain helicase DNA binding protein 8							60	62	61					14																	21861824		2013	4174	6187	SO:0001587	stop_gained	57680				ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	MLL1 complex	ATP binding|beta-catenin binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|methylated histone residue binding|p53 binding	g.chr14:21861824G>A	AB046784	CCDS45081.1, CCDS53885.1	14q11.2	2008-02-05	2004-06-22	2004-06-23		ENSG00000100888			20153	protein-coding gene	gene with protein product		610528	"helicase with SNF2 domain 1"	HELSNF1		10997877	Standard	NM_020920		Approved	KIAA1564, DUPLIN	uc001war.2	Q9HCK8		ENST00000557364.1:c.6130C>T	14.37:g.21861824G>A	ENSP00000451601:p.Arg2044*					CHD8_ENST00000430710.3_Nonsense_Mutation_p.R1765*|CHD8_ENST00000557364.1_Nonsense_Mutation_p.R2044*	p.R2044*	NM_001170629.1	NP_001164100.1	Q9HCK8	CHD8_HUMAN	Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)	31	6194	-	all_cancers(95;0.00121)		2044					Q4G0D8|Q68DQ0|Q6DKH9|Q6P440|Q6ZNL7|Q8N3Z9|Q8NCY4|Q8TBR9|Q96F26	Nonsense_Mutation	SNP	ENST00000557364.1	37	c.6130C>T	CCDS53885.1	.	.	.	.	.	.	.	.	.	.	G	45	11.796261	0.99604	.	.	ENSG00000100888	ENST00000430710;ENST00000399982;ENST00000262707;ENST00000557364	.	.	.	5.26	4.37	0.52481	.	0.190474	0.43416	D	0.000573	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.14252	T	0.57	-3.5066	8.9085	0.35539	0.0:0.1634:0.667:0.1696	.	.	.	.	X	1765;2044;1764;2044	.	ENSP00000262707:R1764X	R	-	1	2	CHD8	20931664	1.000000	0.71417	0.993000	0.49108	0.847000	0.48162	2.773000	0.47686	1.466000	0.48025	-0.223000	0.12442	CGA		0.552	CHD8-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410436.1	NM_020920		8	18	0	0	0	1	0	8	18					A	21861824	G	A	21861824	4	1	435	1	0	0	0	0	0	1	0	0	3331	1095	38	1	1643	1	CHD8	14	21861824	Nonsense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	936	21861824	85487716	6131	27056											
SALL2	6297	broad.mit.edu	37	chr14	21993240	21993240	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcctaaggagccaagcaacaGcacctgcctgcagatttgct	11	7	10	13	0	0	1	0	0	0	1	0	2	0	2	4	1	7	4	4	1	3	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:21993240G>T	ENST00000327430.3	-	2	916	c.622C>A	c.(622-624)Ctg>Atg	p.L208M	SALL2_ENST00000450879.2_Intron|SALL2_ENST00000538754.1_Intron|AE000658.22_ENST00000535893.1_RNA|SALL2_ENST00000317492.5_Intron	NM_005407.1	NP_005398.1	Q9Y467	SALL2_HUMAN	spalt-like transcription factor 2	208					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(6)|urinary_tract(2)	43	all_cancers(95;0.000662)			GBM - Glioblastoma multiforme(265;0.0151)		CCAAGCAACAGCACCTGCCTG	0.592																																						ENST00000327430.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(6)|urinary_tract(2)	43						c.(622-624)Ctg>Atg		spalt-like transcription factor 2							40	39	39					14																	21993240		2203	4300	6503	SO:0001583	missense	6297						DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr14:21993240G>T	AB002358	CCDS32045.1	14q11.1-q12.1	2013-10-17	2013-10-17		ENSG00000165821	ENSG00000165821		"Zinc fingers, C2H2-type"	10526	protein-coding gene	gene with protein product		602219	"sal (Drosophila)-like 2", "sal-like 2 (Drosophila)"			8975705	Standard	XM_005267983		Approved	KIAA0360, Hsal2, ZNF795	uc001wbe.3	Q9Y467	OTTHUMG00000168826	ENST00000327430.3:c.622C>A	14.37:g.21993240G>T	ENSP00000333537:p.Leu208Met					SALL2_ENST00000450879.2_Intron|SALL2_ENST00000317492.5_Intron|SALL2_ENST00000538754.1_Intron	p.L208M	NM_005407.1	NP_005398.1	Q9Y467	SALL2_HUMAN		GBM - Glioblastoma multiforme(265;0.0151)	2	916	-	all_cancers(95;0.000662)		208					B2RMX6|B9EGK8|Q8N656|Q9Y4G1	Missense_Mutation	SNP	ENST00000327430.3	37	c.622C>A	CCDS32045.1	.	.	.	.	.	.	.	.	.	.	G	15.01	2.706674	0.48412	.	.	ENSG00000165821	ENST00000327430;ENST00000541876	T	0.04654	3.58	4.46	3.57	0.40892	.	0.000000	0.31507	N	0.007528	T	0.12646	0.0307	L	0.43152	1.355	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.73380	0.98;0.98	T	0.01108	-1.1449	10	0.66056	D	0.02	-10.5944	9.7601	0.40526	0.1007:0.0:0.8993:0.0	.	206;208	B4DFD9;Q9Y467	.;SALL2_HUMAN	M	208	ENSP00000333537:L208M	ENSP00000333537:L208M	L	-	1	2	SALL2	21063080	0.026000	0.19158	1.000000	0.80357	0.989000	0.77384	0.617000	0.24359	1.110000	0.41699	0.655000	0.94253	CTG		0.592	SALL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401242.1	NM_005407		13	12	1	0	0.00010058	1	0.000103117	13	12					T	21993240	G	T	21993240	3	4	435	1	0	0	0	0	1	0	0	0	13811	962	34	5	2405	5	SALL2	14	21993240	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	131416	21993240	85356300	6132	27057											
SALL2	6297	broad.mit.edu	37	chr14	21993740	21993740	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagttgggtcagtgaattgtGcgcagcacttggcacagact	9	10	13	9	1	1	2	1	1	0	1	1	2	1	2	0	2	2	4	0	2	1	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:21993740G>A	ENST00000327430.3	-	2	416	c.122C>T	c.(121-123)gCa>gTa	p.A41V	SALL2_ENST00000450879.2_Missense_Mutation_p.A39V|SALL2_ENST00000538754.1_Missense_Mutation_p.A39V|AE000658.22_ENST00000535893.1_RNA|SALL2_ENST00000317492.5_Missense_Mutation_p.A41V	NM_005407.1	NP_005398.1	Q9Y467	SALL2_HUMAN	spalt-like transcription factor 2	41					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(6)|urinary_tract(2)	43	all_cancers(95;0.000662)			GBM - Glioblastoma multiforme(265;0.0151)		AGTGAATTGTGCGCAGCACTT	0.557																																						ENST00000327430.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(6)|urinary_tract(2)	43						c.(121-123)gCa>gTa		spalt-like transcription factor 2							106	89	95					14																	21993740		2203	4300	6503	SO:0001583	missense	6297						DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr14:21993740G>A	AB002358	CCDS32045.1	14q11.1-q12.1	2013-10-17	2013-10-17		ENSG00000165821	ENSG00000165821		"Zinc fingers, C2H2-type"	10526	protein-coding gene	gene with protein product		602219	"sal (Drosophila)-like 2", "sal-like 2 (Drosophila)"			8975705	Standard	XM_005267983		Approved	KIAA0360, Hsal2, ZNF795	uc001wbe.3	Q9Y467	OTTHUMG00000168826	ENST00000327430.3:c.122C>T	14.37:g.21993740G>A	ENSP00000333537:p.Ala41Val					SALL2_ENST00000450879.2_Missense_Mutation_p.A39V|SALL2_ENST00000317492.5_Missense_Mutation_p.A41V|SALL2_ENST00000538754.1_Missense_Mutation_p.A39V	p.A41V	NM_005407.1	NP_005398.1	Q9Y467	SALL2_HUMAN		GBM - Glioblastoma multiforme(265;0.0151)	2	416	-	all_cancers(95;0.000662)		41					B2RMX6|B9EGK8|Q8N656|Q9Y4G1	Missense_Mutation	SNP	ENST00000327430.3	37	c.122C>T	CCDS32045.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	29.3|29.3	4.992052|4.992052	0.93167|0.93167	.|.	.|.	ENSG00000165821|ENSG00000165821	ENST00000327430;ENST00000317492;ENST00000538754;ENST00000450879;ENST00000541876;ENST00000537235|ENST00000546363	T;T;T;T;T|.	0.55588|.	1.26;0.51;0.69;2.51;0.71|.	4.11|4.11	4.11|4.11	0.48088|0.48088	.|.	0.000000|.	0.38663|.	N|.	0.001602|.	T|T	0.70237|0.70237	0.3201|0.3201	M|M	0.78916|0.78916	2.43|2.43	0.33426|0.33426	D|D	0.580528|0.580528	D;D;D;D;D;D|.	0.89917|.	1.0;1.0;1.0;0.998;1.0;0.993|.	D;D;D;D;D;D|.	0.91635|.	0.994;0.994;0.992;0.994;0.999;0.978|.	T|T	0.79286|0.79286	-0.1866|-0.1866	10|5	0.87932|.	D|.	0|.	-25.1033|-25.1033	13.9407|13.9407	0.64052|0.64052	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	39;39;39;41;39;41|.	B4DK65;E7EW59;B4DFD9;F5GY43;Q8N656;Q9Y467|.	.;.;.;.;.;SALL2_HUMAN|.	V|Y	41;41;39;39;41;39|35	ENSP00000333537:A41V;ENSP00000320536:A41V;ENSP00000445916:A39V;ENSP00000396773:A39V;ENSP00000438493:A39V|.	ENSP00000320536:A41V|.	A|H	-|-	2|1	0|0	SALL2|SALL2	21063580|21063580	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.980000|0.980000	0.70556|0.70556	7.428000|7.428000	0.80296|0.80296	2.156000|2.156000	0.67533|0.67533	0.558000|0.558000	0.71614|0.71614	GCA|CAC		0.557	SALL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401242.1	NM_005407		20	36	0	0	0	1	0	20	36					A	21993740	G	A	21993740	3	1	435	1	0	0	0	0	1	0	0	0	13811	1319	46	3	2905	3	SALL2	14	21993740	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	500	21993740	85355800	6133	27058											
OR10G3	26533	broad.mit.edu	37	chr14	22038126	22038126	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcacagggcacatagtacacGgtgaccacggttacatgggc	11	6	13	11	2	0	1	0	1	0	0	0	1	0	1	1	4	2	4	1	4	3	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:22038126G>A	ENST00000303532.1	-	1	749	c.750C>T	c.(748-750)acC>acT	p.T250T		NM_001005465.1	NP_001005465.1	Q8NGC4	O10G3_HUMAN	olfactory receptor, family 10, subfamily G, member 3	250						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.T250T(1)		central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)	15	all_cancers(95;0.000987)			GBM - Glioblastoma multiforme(265;0.0139)		CATAGTACACGGTGACCACGG	0.572																																						ENST00000303532.1																			1	Substitution - coding silent(1)	p.T250T(1)	large_intestine(1)	central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)	15						c.(748-750)acC>acT		olfactory receptor, family 10, subfamily G, member 3							81	86	85					14																	22038126		2203	4300	6503	SO:0001819	synonymous_variant	26533				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:22038126G>A		CCDS32046.1	14q11.2	2013-09-24			ENSG00000169208	ENSG00000169208		"GPCR / Class A : Olfactory receptors"	8171	protein-coding gene	gene with protein product						8188290	Standard	NM_001005465		Approved		uc010tmb.2	Q8NGC4	OTTHUMG00000168886	ENST00000303532.1:c.750C>T	14.37:g.22038126G>A							p.T250T	NM_001005465.1	NP_001005465.1	Q8NGC4	O10G3_HUMAN		GBM - Glioblastoma multiforme(265;0.0139)	1	749	-	all_cancers(95;0.000987)		250					Q6IET7|Q96R77	Silent	SNP	ENST00000303532.1	37	c.750C>T	CCDS32046.1																																																																																				0.572	OR10G3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401521.1			24	47	0	0	0	1	0	24	47					A	22038126	G	A	22038126	2	1	435	1	0	0	0	0	0	0	0	1	10900	1103	39	2		2	OR10G3	14	22038126	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	44386	22038126	85311414	6134	27059											
OR10G2	26534	broad.mit.edu	37	chr14	22102883	22102883	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tccccagctgagtgaggatgTaaatgatgaagaagaccagg	14	7	13	7	0	0	6	0	4	0	2	1	7	1	7	3	2	1	2	3	2	4	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:22102883T>C	ENST00000542433.1	-	1	213	c.116A>G	c.(115-117)tAc>tGc	p.Y39C		NM_001005466.1	NP_001005466.1	Q8NGC3	O10G2_HUMAN	olfactory receptor, family 10, subfamily G, member 2	39						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|prostate(1)|skin(2)|stomach(2)	22	all_cancers(95;0.00113)	Acute lymphoblastic leukemia(2;0.0279)		GBM - Glioblastoma multiforme(265;0.0142)		AGTGAGGATGTAAATGATGAA	0.517																																						ENST00000542433.1																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|prostate(1)|skin(2)|stomach(2)	22						c.(115-117)tAc>tGc		olfactory receptor, family 10, subfamily G, member 2							79	77	78					14																	22102883		2203	4300	6503	SO:0001583	missense	26534				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:22102883T>C		CCDS32047.1	14q11.2	2013-09-24			ENSG00000255582	ENSG00000255582		"GPCR / Class A : Olfactory receptors"	8170	protein-coding gene	gene with protein product						8188290	Standard	NM_001005466		Approved		uc010tmc.2	Q8NGC3	OTTHUMG00000168890	ENST00000542433.1:c.116A>G	14.37:g.22102883T>C	ENSP00000445383:p.Tyr39Cys						p.Y39C	NM_001005466.1	NP_001005466.1	Q8NGC3	O10G2_HUMAN		GBM - Glioblastoma multiforme(265;0.0142)	1	213	-	all_cancers(95;0.00113)	Acute lymphoblastic leukemia(2;0.0279)	39					B2RPD0	Missense_Mutation	SNP	ENST00000542433.1	37	c.116A>G	CCDS32047.1	.	.	.	.	.	.	.	.	.	.	T	12.34	1.909258	0.33721	.	.	ENSG00000255582	ENST00000542433	T	0.04706	3.57	3.79	3.79	0.43588	.	0.000000	0.39544	N	0.001334	T	0.24431	0.0592	M	0.92880	3.355	0.31243	N	0.694928	D	0.76494	0.999	D	0.65443	0.935	T	0.37244	-0.9714	10	0.72032	D	0.01	-9.9043	10.5228	0.44929	0.0:0.0:0.0:1.0	.	39	Q8NGC3	O10G2_HUMAN	C	39	ENSP00000445383:Y39C	ENSP00000445383:Y39C	Y	-	2	0	OR10G2	21172723	1.000000	0.71417	0.997000	0.53966	0.459000	0.32528	5.676000	0.68131	1.580000	0.49851	0.460000	0.39030	TAC		0.517	OR10G2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401525.1			19	20	0	0	0	1	0	19	20					C	22102883	T	C	22102883	3	2	435	1	0	0	0	0	1	0	0	0	10899	1638	57	4	819	4	OR10G2	14	22102883	Missense_Mutation	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	64757	22102883	85246657	6135	27060											
SLC7A7	9056	broad.mit.edu	37	chr14	23282294	23282294	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	caaaggcctccaggatatagGcatagctggccccagatttc	11	8	10	12	0	0	1	0	0	0	1	2	2	1	2	4	4	1	2	4	4	4	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:23282294G>A	ENST00000397532.3	-	2	839	c.314C>T	c.(313-315)gCc>gTc	p.A105V	SLC7A7_ENST00000397529.2_Missense_Mutation_p.A105V|SLC7A7_ENST00000555702.1_Missense_Mutation_p.A105V|SLC7A7_ENST00000397528.4_Missense_Mutation_p.A105V|SLC7A7_ENST00000554517.1_Intron|SLC7A7_ENST00000285850.7_Missense_Mutation_p.A105V			Q9UM01	YLAT1_HUMAN	solute carrier family 7 (amino acid transporter light chain, y+L system), member 7	105					amino acid transport (GO:0006865)|blood coagulation (GO:0007596)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|leukocyte migration (GO:0050900)|protein complex assembly (GO:0006461)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	amino acid transmembrane transporter activity (GO:0015171)			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(2)	20	all_cancers(95;8.44e-05)			GBM - Glioblastoma multiforme(265;0.00741)		CAGGATATAGGCATAGCTGGC	0.557																																						ENST00000397532.3																			0				breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(2)	20						c.(313-315)gCc>gTc		solute carrier family 7 (amino acid transporter light chain, y+L system), member 7							120	125	124					14																	23282294		2203	4300	6503	SO:0001583	missense	9056				blood coagulation|cellular amino acid metabolic process|ion transport|leukocyte migration|protein complex assembly	basolateral plasma membrane|integral to plasma membrane	amino acid transmembrane transporter activity	g.chr14:23282294G>A	AF092032	CCDS9574.1	14q11.2	2014-09-17	2011-07-12		ENSG00000155465	ENSG00000155465		"Solute carriers"	11065	protein-coding gene	gene with protein product		603593		LPI		9829974	Standard	NM_001126106		Approved	y+LAT-1	uc001wgs.4	Q9UM01	OTTHUMG00000028692	ENST00000397532.3:c.314C>T	14.37:g.23282294G>A	ENSP00000380666:p.Ala105Val					SLC7A7_ENST00000397528.4_Missense_Mutation_p.A105V|SLC7A7_ENST00000554517.1_Intron|SLC7A7_ENST00000555702.1_Missense_Mutation_p.A105V|SLC7A7_ENST00000285850.7_Missense_Mutation_p.A105V|SLC7A7_ENST00000397529.2_Missense_Mutation_p.A105V	p.A105V			Q9UM01	YLAT1_HUMAN		GBM - Glioblastoma multiforme(265;0.00741)	2	839	-	all_cancers(95;8.44e-05)		105					B2RAU0|D3DS26|O95984|Q53XC1|Q86U07|Q9P2V5	Missense_Mutation	SNP	ENST00000397532.3	37	c.314C>T	CCDS9574.1	.	.	.	.	.	.	.	.	.	.	G	32	5.123914	0.94429	.	.	ENSG00000155465	ENST00000285850;ENST00000555702;ENST00000397532;ENST00000404278;ENST00000397529;ENST00000397528;ENST00000554758;ENST00000488800;ENST00000555251;ENST00000557629;ENST00000555911;ENST00000557129	D;D;D;D;D;D;D;D;D;D;D	0.87650	-2.28;-2.28;-2.28;-2.28;-2.28;-2.28;-2.28;-2.28;-2.28;-2.28;-2.28	5.41	5.41	0.78517	Amino acid permease domain (1);	0.050723	0.85682	D	0.000000	D	0.91119	0.7204	L	0.52126	1.63	0.80722	D	1	D	0.65815	0.995	D	0.63283	0.913	D	0.91897	0.5528	10	0.87932	D	0	.	17.9666	0.89101	0.0:0.0:1.0:0.0	.	105	Q9UM01	YLAT1_HUMAN	V	105;105;105;78;105;105;105;105;105;105;105;105	ENSP00000285850:A105V;ENSP00000451881:A105V;ENSP00000380666:A105V;ENSP00000380663:A105V;ENSP00000380662:A105V;ENSP00000450671:A105V;ENSP00000421554:A105V;ENSP00000451983:A105V;ENSP00000450495:A105V;ENSP00000452551:A105V;ENSP00000450729:A105V	ENSP00000285850:A105V	A	-	2	0	SLC7A7	22352134	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.869000	0.99810	2.552000	0.86080	0.591000	0.81541	GCC		0.557	SLC7A7-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071636.3			24	43	0	0	0	1	0	24	43					A	23282294	G	A	23282294	3	1	435	1	0	0	0	0	1	0	0	0	14703	1203	42	3	1257	3	SLC7A7	14	23282294	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	1179411	23282294	84067246	6136	27061											
PRMT5	10419	broad.mit.edu	37	chr14	23396015	23396015	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtgccaccaagggtacccgCatccagaactgcacatgaac	12	5	10	14	1	0	2	0	1	0	1	1	2	1	2	4	2	5	3	4	2	4	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:23396015C>T	ENST00000324366.8	-	5	682	c.459G>A	c.(457-459)atG>atA	p.M153I	PRMT5-AS1_ENST00000595662.1_RNA|PRMT5-AS1_ENST00000587245.2_RNA|PRMT5_ENST00000397441.2_Missense_Mutation_p.M136I|PRMT5-AS1_ENST00000599580.2_RNA|PRMT5_ENST00000553897.1_Missense_Mutation_p.M109I|RP11-298I3.1_ENST00000548322.1_RNA|PRMT5_ENST00000553641.1_5'UTR|PRMT5-AS1_ENST00000590290.1_RNA|PRMT5_ENST00000216350.8_Missense_Mutation_p.M92I|PRMT5_ENST00000397440.4_Intron|PRMT5_ENST00000538452.1_Missense_Mutation_p.M47I|RP11-298I3.1_ENST00000548819.1_RNA	NM_006109.3	NP_006100.2	O14744	ANM5_HUMAN	protein arginine methyltransferase 5	153	TIM barrel. {ECO:0000269|PubMed:23071334}.				cell proliferation (GO:0008283)|circadian regulation of gene expression (GO:0032922)|endothelial cell activation (GO:0042118)|gene expression (GO:0010467)|histone H4-R3 methylation (GO:0043985)|ncRNA metabolic process (GO:0034660)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|peptidyl-arginine methylation (GO:0018216)|peptidyl-arginine methylation, to symmetrical-dimethyl arginine (GO:0019918)|peptidyl-arginine N-methylation (GO:0035246)|regulation of mitosis (GO:0007088)|regulation of transcription, DNA-templated (GO:0006355)|RNA metabolic process (GO:0016070)|spliceosomal snRNP assembly (GO:0000387)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|methylosome (GO:0034709)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|core promoter sequence-specific DNA binding (GO:0001046)|histone-arginine N-methyltransferase activity (GO:0008469)|methyltransferase activity (GO:0008168)|protein-arginine omega-N symmetric methyltransferase activity (GO:0035243)|ribonucleoprotein complex binding (GO:0043021)|transcription corepressor activity (GO:0003714)			endometrium(4)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	25	all_cancers(95;2.76e-05)			GBM - Glioblastoma multiforme(265;0.0126)		AGGGTACCCGCATCCAGAACT	0.458																																						ENST00000324366.8																			0				endometrium(4)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	25						c.(457-459)atG>atA		protein arginine methyltransferase 5							153	127	136					14																	23396015		2203	4300	6503	SO:0001583	missense	10419				cell proliferation|histone H4-R3 methylation|ncRNA metabolic process|regulation of mitosis|spliceosomal snRNP assembly|transcription, DNA-dependent	cytosol|nucleus	histone-arginine N-methyltransferase activity|protein binding|protein-arginine omega-N symmetric methyltransferase activity|ribonucleoprotein binding	g.chr14:23396015C>T	AF015913	CCDS9579.1, CCDS41922.1, CCDS61394.1, CCDS61395.1, CCDS61396.1	14q11.2	2014-06-12	2006-02-16	2006-02-16	ENSG00000100462	ENSG00000100462	2.1.1.125	"Protein arginine methyltransferases"	10894	protein-coding gene	gene with protein product		604045	"skb1 (S. pombe) homolog", "SKB1 homolog (S. pombe)"	HRMT1L5, SKB1		9843966	Standard	NM_001282955		Approved	SKB1Hs	uc001whm.1	O14744	OTTHUMG00000028709	ENST00000324366.8:c.459G>A	14.37:g.23396015C>T	ENSP00000319169:p.Met153Ile					PRMT5_ENST00000553897.1_Missense_Mutation_p.M109I|PRMT5-AS1_ENST00000599580.1_RNA|PRMT5-AS1_ENST00000587245.2_RNA|PRMT5_ENST00000397441.2_Missense_Mutation_p.M136I|PRMT5_ENST00000216350.8_Missense_Mutation_p.M92I|PRMT5_ENST00000538452.1_Missense_Mutation_p.M47I|PRMT5_ENST00000553641.1_5'UTR|PRMT5-AS1_ENST00000590290.1_RNA|PRMT5_ENST00000397440.4_Intron	p.M153I	NM_006109.3	NP_006100.2	O14744	ANM5_HUMAN		GBM - Glioblastoma multiforme(265;0.0126)	5	682	-	all_cancers(95;2.76e-05)		153					A8MTP3|A8MZ91|B4DX49|B4DY30|B5BU10|D3DS33|E2QRE7|Q6IBR1|Q9UKH1	Missense_Mutation	SNP	ENST00000324366.8	37	c.459G>A	CCDS9579.1	.	.	.	.	.	.	.	.	.	.	C	5.902	0.350586	0.11182	.	.	ENSG00000100462	ENST00000324366;ENST00000397441;ENST00000216350;ENST00000538452;ENST00000553897;ENST00000555530;ENST00000554867;ENST00000556616;ENST00000554910;ENST00000421938	.	.	.	5.39	4.49	0.54785	.	0.208574	0.56097	D	0.000028	T	0.22437	0.0541	N	0.01686	-0.76	0.38607	D	0.950816	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.04013	0.001;0.0;0.0;0.001	T	0.25502	-1.0130	9	0.02654	T	1	-20.6412	13.4953	0.61421	0.0:0.9221:0.0:0.0779	.	109;92;153;136	G3V5W5;B4DX49;O14744;A8MZ91	.;.;ANM5_HUMAN;.	I	153;136;92;47;109;54;108;115;111;163	.	ENSP00000216350:M92I	M	-	3	0	PRMT5	22465855	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	0.685000	0.25378	2.537000	0.85549	0.655000	0.94253	ATG		0.458	PRMT5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071674.3			30	32	0	0	0	1	0	30	32					T	23396015	C	T	23396015	3	4	435	1	0	0	0	0	1	0	0	0	12539	710	25	3	1506	3	PRMT5	14	23396015	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	113721	23396015	83953525	6137	27062											
JUB	84962	broad.mit.edu	37	chr14	23444069	23444069	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tcagaggggaggatgggttgGccacaggctgcacacttagg	9	7	17	8	0	1	1	1	0	0	1	1	3	1	3	1	7	1	3	1	7	1	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:23444069G>A	ENST00000262713.2	-	6	1776	c.1401C>T	c.(1399-1401)ggC>ggT	p.G467G	AJUBA_ENST00000397388.3_Silent_p.G50G|RP11-298I3.5_ENST00000555074.1_Intron|AJUBA_ENST00000361265.4_Silent_p.G467G	NM_032876.4	NP_116265.1	Q96IF1	AJUBA_HUMAN	ajuba LIM protein	467	LIM zinc-binding 3. {ECO:0000255|PROSITE- ProRule:PRU00125}.				calcium-dependent cell-cell adhesion (GO:0016339)|cellular protein localization (GO:0034613)|focal adhesion assembly (GO:0048041)|G2/M transition of mitotic cell cycle (GO:0000086)|gene silencing by miRNA (GO:0035195)|glycerophospholipid biosynthetic process (GO:0046474)|lamellipodium assembly (GO:0030032)|mitotic cell cycle (GO:0000278)|negative regulation of hippo signaling (GO:0035331)|negative regulation of kinase activity (GO:0033673)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cellular biosynthetic process (GO:0031328)|positive regulation of gene silencing by miRNA (GO:2000637)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein complex assembly (GO:0031334)|regulation of cell migration (GO:0030334)|regulation of cellular response to hypoxia (GO:1900037)|regulation of GTPase activity (GO:0043087)|response to hypoxia (GO:0001666)|transcription, DNA-templated (GO:0006351)|wound healing, spreading of epidermal cells (GO:0035313)	cell-cell junction (GO:0005911)|cytoplasmic mRNA processing body (GO:0000932)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|transcription factor complex (GO:0005667)	alpha-catenin binding (GO:0045294)|chromatin binding (GO:0003682)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)										GGATGGGTTGGCCACAGGCTG	0.572																																						ENST00000262713.2																			0											c.(1399-1401)ggC>ggT		ajuba LIM protein							101	90	94					14																	23444069		2203	4300	6503	SO:0001819	synonymous_variant	84962				cell cycle|gene silencing by miRNA|positive regulation of protein complex assembly	cell-cell junction|cytoplasmic mRNA processing body|microtubule organizing center	alpha-catenin binding|zinc ion binding	g.chr14:23444069G>A	AK025567	CCDS9581.1, CCDS9582.1	14q11.2	2011-11-10	2011-11-10	2011-11-10	ENSG00000129474	ENSG00000129474			20250	protein-coding gene	gene with protein product		609066	"jub, ajuba homolog (Xenopus laevis)"	JUB		10330178	Standard	NM_032876		Approved	MGC15563	uc001whz.3	Q96IF1	OTTHUMG00000028711	ENST00000262713.2:c.1401C>T	14.37:g.23444069G>A						RP11-298I3.5_ENST00000555074.1_Intron|AJUBA_ENST00000397388.3_Silent_p.G50G|AJUBA_ENST00000361265.4_Silent_p.G467G	p.G467G	NM_032876.4	NP_116265.1	Q96IF1	JUB_HUMAN			6	1776	-			467			LIM zinc-binding 3.		A8MX18|D3DS37	Silent	SNP	ENST00000262713.2	37	c.1401C>T	CCDS9581.1																																																																																				0.572	AJUBA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071685.2			15	17	0	0	0	1	0	15	17					A	23444069	G	A	23444069	2	1	435	1	0	0	0	0	0	0	0	1	7968	1190	42	3		3	JUB	14	23444069	Silent	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	48054	23444069	83905471	6138	27063											
C14orf93	60686	broad.mit.edu	37	chr14	23465326	23465326	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cattgagcatgtcctcagggCggggtggtggcagcttggtt	5	11	17	8	1	1	1	1	1	0	0	2	1	2	1	1	6	2	4	1	6	0	3	rs201600502		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:23465326C>T	ENST00000299088.6	-	3	1178	c.749G>A	c.(748-750)cGc>cAc	p.R250H	C14orf93_ENST00000397379.3_Missense_Mutation_p.R250H|C14orf93_ENST00000341470.4_Missense_Mutation_p.R250H|C14orf93_ENST00000397377.1_Missense_Mutation_p.R70H|RP11-298I3.4_ENST00000555294.1_RNA|C14orf93_ENST00000397382.4_Missense_Mutation_p.R250H|C14orf93_ENST00000557513.1_5'Flank|RP11-298I3.4_ENST00000556503.1_RNA|C14orf93_ENST00000406429.2_Missense_Mutation_p.R250H|RP11-298I3.4_ENST00000557615.1_RNA	NM_001130708.1|NM_021944.2	NP_001124180.1|NP_068763.2	Q9H972	CN093_HUMAN	chromosome 14 open reading frame 93	250						extracellular region (GO:0005576)	poly(A) RNA binding (GO:0044822)			kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(2)|urinary_tract(1)	17	all_cancers(95;3.3e-05)			GBM - Glioblastoma multiforme(265;0.0127)		GTCCTCAGGGCGGGGTGGTGG	0.607																																						ENST00000299088.6																			0				kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(2)|urinary_tract(1)	17						c.(748-750)cGc>cAc		chromosome 14 open reading frame 93							118	97	104					14																	23465326		2203	4300	6503	SO:0001583	missense	60686					extracellular region		g.chr14:23465326C>T	AK023026	CCDS9583.1, CCDS61399.1, CCDS61400.1	14q11.1	2012-09-25			ENSG00000100802	ENSG00000100802			20162	protein-coding gene	gene with protein product							Standard	XM_005267971		Approved	FLJ12154	uc001wih.3	Q9H972	OTTHUMG00000028712	ENST00000299088.6:c.749G>A	14.37:g.23465326C>T	ENSP00000299088:p.Arg250His					RP11-298I3.4_ENST00000555294.1_RNA|C14orf93_ENST00000397377.1_Missense_Mutation_p.R70H|C14orf93_ENST00000406429.2_Missense_Mutation_p.R250H|RP11-298I3.4_ENST00000556503.1_RNA|C14orf93_ENST00000341470.4_Missense_Mutation_p.R250H|C14orf93_ENST00000397379.3_Missense_Mutation_p.R250H|C14orf93_ENST00000397382.4_Missense_Mutation_p.R250H	p.R250H	NM_001130708.1|NM_021944.2	NP_001124180.1|NP_068763.2	Q9H972	CN093_HUMAN		GBM - Glioblastoma multiforme(265;0.0127)	3	1178	-	all_cancers(95;3.3e-05)		250					B7WP03|D3DS38|D3DS39|Q86SE6|Q96CF7|Q9HA68	Missense_Mutation	SNP	ENST00000299088.6	37	c.749G>A	CCDS9583.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.183647	0.78677	.	.	ENSG00000100802	ENST00000299088;ENST00000341470;ENST00000397379;ENST00000397382;ENST00000397377;ENST00000406429;ENST00000397376	T;T;T;T;T;T;T	0.47528	0.84;0.84;0.84;0.84;0.84;0.84;0.84	5.71	3.89	0.44902	.	0.106375	0.44285	D	0.000476	T	0.33352	0.0860	L	0.27053	0.805	0.29746	N	0.836763	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.28427	-1.0044	10	0.62326	D	0.03	-7.4386	9.188	0.37182	0.0:0.7724:0.0:0.2276	.	250;250	Q9H972;Q9H972-2	CN093_HUMAN;.	H	250;250;250;250;70;250;70	ENSP00000299088:R250H;ENSP00000341353:R250H;ENSP00000380535:R250H;ENSP00000380538:R250H;ENSP00000380533:R70H;ENSP00000384768:R250H;ENSP00000380532:R70H	ENSP00000299088:R250H	R	-	2	0	C14orf93	22535166	0.159000	0.22864	0.827000	0.32855	0.963000	0.63663	0.004000	0.13106	0.773000	0.33404	0.655000	0.94253	CGC		0.607	C14orf93-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071688.5	NM_021944		27	43	0	0	0	1	0	27	43					T	23465326	C	T	23465326	3	4	435	1	0	0	0	0	1	0	0	0	1782	768	27	1	887	1	C14orf93	14	23465326	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	21257	23465326	83884214	6139	27064											
PSMB5	5693	broad.mit.edu	37	chr14	23503907	23503907	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccacaccttgaaggccagggTggttgttccatgaagcattt	9	11	11	10	0	0	2	0	2	0	0	1	2	1	2	4	3	1	3	4	3	2	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:23503907T>C	ENST00000361611.6	-	1	447	c.184A>G	c.(184-186)Acc>Gcc	p.T62A	AL132780.1_ENST00000385031.1_RNA|PSMB5_ENST00000425762.2_Intron|PSMB5_ENST00000493471.2_Missense_Mutation_p.T62A|PSMB5_ENST00000460922.2_Missense_Mutation_p.T62A	NM_002797.3	NP_002788.1	P28074	PSB5_HUMAN	proteasome (prosome, macropain) subunit, beta type, 5	62					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|response to oxidative stress (GO:0006979)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome complex (GO:0000502)|proteasome core complex (GO:0005839)	threonine-type endopeptidase activity (GO:0004298)			kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)	7	all_cancers(95;3.3e-05)			GBM - Glioblastoma multiforme(265;0.0121)	Bortezomib(DB00188)|Carfilzomib(DB08889)	AAGGCCAGGGTGGTTGTTCCA	0.632																																						ENST00000361611.6																			0				kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)	7						c.(184-186)Acc>Gcc		proteasome (prosome, macropain) subunit, beta type, 5	Bortezomib(DB00188)						41	37	38					14																	23503907		2203	4300	6503	SO:0001583	missense	5693				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus	protein binding|threonine-type endopeptidase activity	g.chr14:23503907T>C	D29011	CCDS9584.1, CCDS45083.1, CCDS45084.1	14q11.2	2008-08-29			ENSG00000100804	ENSG00000100804		"Proteasome (prosome, macropain) subunits"	9542	protein-coding gene	gene with protein product		600306				8066462, 8811196	Standard	NM_001130725		Approved	X, MB1	uc001wii.3	P28074	OTTHUMG00000028713	ENST00000361611.6:c.184A>G	14.37:g.23503907T>C	ENSP00000355325:p.Thr62Ala					PSMB5_ENST00000493471.2_Missense_Mutation_p.T62A|PSMB5_ENST00000425762.2_Intron|PSMB5_ENST00000460922.2_Missense_Mutation_p.T62A	p.T62A	NM_002797.3	NP_002788.1	P28074	PSB5_HUMAN		GBM - Glioblastoma multiforme(265;0.0121)	1	447	-	all_cancers(95;3.3e-05)		62					B2R4N9|B4DUM9|D3DS43|E9PAV2|Q16242|Q6PEW2|Q7Z3B5|Q86T01|Q9TNN9	Missense_Mutation	SNP	ENST00000361611.6	37	c.184A>G	CCDS9584.1	.	.	.	.	.	.	.	.	.	.	T	27.0	4.789494	0.90367	.	.	ENSG00000100804	ENST00000361611;ENST00000493471;ENST00000460922	T;T;T	0.50277	0.75;0.75;0.75	5.28	5.28	0.74379	.	0.000000	0.85682	D	0.000000	T	0.72985	0.3529	M	0.91300	3.195	0.80722	D	1	P;D	0.69078	0.933;0.997	P;D	0.65140	0.656;0.932	T	0.80348	-0.1420	10	0.87932	D	0	-15.0683	14.2155	0.65790	0.0:0.0:0.0:1.0	.	62;62	P28074-2;P28074	.;PSB5_HUMAN	A	62	ENSP00000355325:T62A;ENSP00000452424:T62A;ENSP00000451286:T62A	ENSP00000334973:T62A	T	-	1	0	PSMB5	22573747	1.000000	0.71417	0.999000	0.59377	0.991000	0.79684	4.645000	0.61404	1.995000	0.58328	0.454000	0.30748	ACC		0.632	PSMB5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071695.4	NM_002797		3	10	0	0	0	1	0	3	10					C	23503907	T	C	23503907	3	2	435	1	0	0	0	0	1	0	0	0	12680	1696	59	4	708	4	PSMB5	14	23503907	Missense_Mutation	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	38581	23503907	83845633	6140	27065											
PSMB11	122706	broad.mit.edu	37	chr14	23512147	23512147	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tggatgggagcatgtgtcacGcagtgatgcctgtgtgctgt	6	12	16	7	1	1	1	1	1	0	0	1	3	1	3	1	2	3	3	1	2	0	0	rs181637075	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:23512147G>A	ENST00000408907.2	+	1	772	c.713G>A	c.(712-714)cGc>cAc	p.R238H		NM_001099780.1	NP_001093250.1	A5LHX3	PSB11_HUMAN	proteasome (prosome, macropain) subunit, beta type, 11	238					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleus (GO:0005634)|proteasome core complex (GO:0005839)	threonine-type endopeptidase activity (GO:0004298)			endometrium(1)|kidney(2)|lung(4)	7	all_cancers(95;3.3e-05)			GBM - Glioblastoma multiforme(265;0.00643)		CATGTGTCACGCAGTGATGCC	0.632													G|||	6	0.00119808	0.0038	0.0014	5008	,	,		18973	0		0	False		,,,				2504	0					ENST00000408907.2																			0				endometrium(1)|kidney(2)|lung(4)	7						c.(712-714)cGc>cAc		proteasome (prosome, macropain) subunit, beta type, 11		G	HIS/ARG	5,4359		0,5,2177	40	44	43		713	4.7	0.8	14		43	0,8574		0,0,4287	yes	missense	PSMB11	NM_001099780.1	29	0,5,6464	AA,AG,GG		0.0,0.1146,0.0386	probably-damaging	238/301	23512147	5,12933	2182	4287	6469	SO:0001583	missense	122706				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|mRNA metabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome core complex	threonine-type endopeptidase activity	g.chr14:23512147G>A		CCDS41923.1	14q11.2	2008-01-31				ENSG00000222028			31963	protein-coding gene	gene with protein product		611137				17540904	Standard	NM_001099780		Approved	beta5t	uc010ake.1	A5LHX3		ENST00000408907.2:c.713G>A	14.37:g.23512147G>A	ENSP00000386212:p.Arg238His						p.R238H	NM_001099780.1	NP_001093250.1	A5LHX3	PSB11_HUMAN		GBM - Glioblastoma multiforme(265;0.00643)	1	772	+	all_cancers(95;3.3e-05)		238						Missense_Mutation	SNP	ENST00000408907.2	37	c.713G>A	CCDS41923.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	14.32	2.499555	0.44455	0.001146	0.0	ENSG00000222028	ENST00000408907	T	0.34275	1.37	4.74	4.74	0.60224	.	0.000000	0.85682	D	0.000000	T	0.43722	0.1260	N	0.19112	0.55	0.26648	N	0.972153	D	0.89917	1.0	D	0.71656	0.974	T	0.34725	-0.9817	10	0.49607	T	0.09	-23.2184	14.6691	0.68932	0.0:0.0:1.0:0.0	.	238	A5LHX3	PSB11_HUMAN	H	238	ENSP00000386212:R238H	ENSP00000386212:R238H	R	+	2	0	PSMB11	22581987	0.003000	0.15002	0.803000	0.32268	0.324000	0.28378	1.345000	0.33953	2.189000	0.69895	0.561000	0.74099	CGC		0.632	PSMB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408294.1	NM_001099780		20	16	0	0	0	1	0	20	16					A	23512147	G	A	23512147	3	1	435	1	0	0	0	0	1	0	0	0	12676	1087	38	1	715	1	PSMB11	14	23512147	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	8240	23512147	83837393	6141	27066											
ACIN1	22985	broad.mit.edu	37	chr14	23528662	23528662	+	Missense_Mutation	SNP	G	G	A																															ctccttggcccgttcggcccGctctgcctctttctgaacga																								rs553152810		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:23528662G>A	ENST00000262710.1	-	19	4048	c.3721C>T	c.(3721-3723)Cgg>Tgg	p.R1241W	ACIN1_ENST00000397341.3_Missense_Mutation_p.R483W|ACIN1_ENST00000605057.1_Missense_Mutation_p.R1183W|CDH24_ENST00000397359.3_5'Flank|CDH24_ENST00000487137.2_5'Flank|ACIN1_ENST00000338631.6_Missense_Mutation_p.R514W|ACIN1_ENST00000555053.1_Missense_Mutation_p.R1228W|ACIN1_ENST00000357481.2_Missense_Mutation_p.R483W|ACIN1_ENST00000557515.1_Missense_Mutation_p.R482W|ACIN1_ENST00000457657.1_Missense_Mutation_p.R1201W	NM_001164814.1|NM_014977.3	NP_001158286.1|NP_055792	Q9UKV3	ACINU_HUMAN	apoptotic chromatin condensation inducer 1	1241	Arg/Asp/Glu/Lys-rich.				apoptotic chromosome condensation (GO:0030263)|apoptotic process (GO:0006915)|ATP catabolic process (GO:0006200)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|erythrocyte differentiation (GO:0030218)|mRNA processing (GO:0006397)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|positive regulation of apoptotic process (GO:0043065)|positive regulation of monocyte differentiation (GO:0045657)|RNA splicing (GO:0008380)	ASAP complex (GO:0061574)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATPase activity (GO:0016887)|enzyme binding (GO:0019899)|nucleic acid binding (GO:0003676)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(6)|kidney(4)|large_intestine(9)|lung(10)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	37	all_cancers(95;1.36e-05)			GBM - Glioblastoma multiforme(265;0.00816)		CGTTCGGCCCGCTCTGCCTCT	0.592																																						ENST00000262710.1																			0				breast(1)|endometrium(6)|kidney(4)|large_intestine(9)|lung(10)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	37						c.(3721-3723)Cgg>Tgg		apoptotic chromatin condensation inducer 1							83	74	77					14																	23528662		2203	4300	6503	SO:0001583	missense	22985				apoptotic chromosome condensation|erythrocyte differentiation|positive regulation of monocyte differentiation	cytosol	ATPase activity|enzyme binding|nucleic acid binding|nucleotide binding	g.chr14:23528662G>A	AB014570	CCDS9587.1, CCDS53887.1, CCDS53888.1, CCDS53889.1, CCDS55905.1	14q11.2	2008-11-25	2004-03-31	2004-04-01	ENSG00000100813	ENSG00000100813			17066	protein-coding gene	gene with protein product	"functional spliceosome-associated protein 152"	604562	"apoptotic chromatin condensation inducer in the nucleus"	ACINUS		9734811, 10490026	Standard	NM_014977		Approved	KIAA0670, fSAP152	uc001wit.4	Q9UKV3	OTTHUMG00000028716	ENST00000262710.1:c.3721C>T	14.37:g.23528662G>A	ENSP00000262710:p.Arg1241Trp					ACIN1_ENST00000338631.6_Missense_Mutation_p.R514W|ACIN1_ENST00000397341.3_Missense_Mutation_p.R483W|ACIN1_ENST00000557515.1_Missense_Mutation_p.R482W|ACIN1_ENST00000605057.1_Missense_Mutation_p.R1183W|ACIN1_ENST00000457657.1_Missense_Mutation_p.R1201W|ACIN1_ENST00000357481.2_Missense_Mutation_p.R483W|ACIN1_ENST00000555053.1_Missense_Mutation_p.R1228W	p.R1241W	NM_001164814.1|NM_014977.3	NP_001158286.1|NP_055792.1	Q9UKV3	ACINU_HUMAN		GBM - Glioblastoma multiforme(265;0.00816)	19	4048	-	all_cancers(95;1.36e-05)		1241			Arg/Asp/Glu/Lys-rich.		B2RTT4|D3DS45|O75158|Q9UG91|Q9UKV1|Q9UKV2	Missense_Mutation	SNP	ENST00000262710.1	37	c.3721C>T	CCDS9587.1	.	.	.	.	.	.	.	.	.	.	G	13.53	2.265492	0.40095	.	.	ENSG00000100813	ENST00000557515;ENST00000338631;ENST00000357481;ENST00000262710;ENST00000457657;ENST00000397341;ENST00000555053	T;T;T;T;T;T;T	0.46063	0.88;0.88;0.88;0.88;0.88;0.88;0.88	4.18	3.26	0.37387	.	0.667620	0.12407	N	0.471607	T	0.55081	0.1898	L	0.49126	1.545	0.48571	D	0.999671	D;D;D;D;D	0.76494	0.997;0.995;0.995;0.999;0.999	P;B;P;D;D	0.66196	0.616;0.412;0.535;0.942;0.942	T	0.53251	-0.8465	10	0.87932	D	0	-4.5308	10.1473	0.42771	0.0:0.0:0.5082:0.4917	.	1228;1241;1201;514;483	G3V3M7;Q9UKV3;E7EQT4;Q9UKV3-2;Q9UKV3-3	.;ACINU_HUMAN;.;.;.	W	482;514;483;1241;1201;483;1228	ENSP00000451138:R482W;ENSP00000345541:R514W;ENSP00000350073:R483W;ENSP00000262710:R1241W;ENSP00000405677:R1201W;ENSP00000380502:R483W;ENSP00000451328:R1228W	ENSP00000262710:R1241W	R	-	1	2	ACIN1	22598502	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	0.941000	0.29005	1.071000	0.40834	0.462000	0.41574	CGG		0.592	ACIN1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000071707.3	NM_014977		24	29	0	0	0	1	0	24	29					A	23528662	G	A	23528662	3	1	435	1	0	0	0	0	1	0	0	0	142	1086	38	1	308	1	ACIN1	14	23528662	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	16515	23528662	83820878	6142	27067	127	2									
ACIN1	22985	broad.mit.edu	37	chr14	23528663	23528663	+	Silent	SNP	C	C	T																															tccttggcccgttcggcccgCtctgcctctttctgaacgat																										TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:23528663C>T	ENST00000262710.1	-	19	4047	c.3720G>A	c.(3718-3720)gaG>gaA	p.E1240E	ACIN1_ENST00000397341.3_Silent_p.E482E|ACIN1_ENST00000605057.1_Silent_p.E1182E|CDH24_ENST00000397359.3_5'Flank|CDH24_ENST00000487137.2_5'Flank|ACIN1_ENST00000338631.6_Silent_p.E513E|ACIN1_ENST00000555053.1_Silent_p.E1227E|ACIN1_ENST00000357481.2_Silent_p.E482E|ACIN1_ENST00000557515.1_Silent_p.E481E|ACIN1_ENST00000457657.1_Silent_p.E1200E	NM_001164814.1|NM_014977.3	NP_001158286.1|NP_055792	Q9UKV3	ACINU_HUMAN	apoptotic chromatin condensation inducer 1	1240	Arg/Asp/Glu/Lys-rich.				apoptotic chromosome condensation (GO:0030263)|apoptotic process (GO:0006915)|ATP catabolic process (GO:0006200)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|erythrocyte differentiation (GO:0030218)|mRNA processing (GO:0006397)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|positive regulation of apoptotic process (GO:0043065)|positive regulation of monocyte differentiation (GO:0045657)|RNA splicing (GO:0008380)	ASAP complex (GO:0061574)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATPase activity (GO:0016887)|enzyme binding (GO:0019899)|nucleic acid binding (GO:0003676)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(6)|kidney(4)|large_intestine(9)|lung(10)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	37	all_cancers(95;1.36e-05)			GBM - Glioblastoma multiforme(265;0.00816)		GTTCGGCCCGCTCTGCCTCTT	0.592																																						ENST00000262710.1																			0				breast(1)|endometrium(6)|kidney(4)|large_intestine(9)|lung(10)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	37						c.(3718-3720)gaG>gaA		apoptotic chromatin condensation inducer 1							82	74	77					14																	23528663		2203	4300	6503	SO:0001819	synonymous_variant	22985				apoptotic chromosome condensation|erythrocyte differentiation|positive regulation of monocyte differentiation	cytosol	ATPase activity|enzyme binding|nucleic acid binding|nucleotide binding	g.chr14:23528663C>T	AB014570	CCDS9587.1, CCDS53887.1, CCDS53888.1, CCDS53889.1, CCDS55905.1	14q11.2	2008-11-25	2004-03-31	2004-04-01	ENSG00000100813	ENSG00000100813			17066	protein-coding gene	gene with protein product	"functional spliceosome-associated protein 152"	604562	"apoptotic chromatin condensation inducer in the nucleus"	ACINUS		9734811, 10490026	Standard	NM_014977		Approved	KIAA0670, fSAP152	uc001wit.4	Q9UKV3	OTTHUMG00000028716	ENST00000262710.1:c.3720G>A	14.37:g.23528663C>T						ACIN1_ENST00000338631.6_Silent_p.E513E|ACIN1_ENST00000397341.3_Silent_p.E482E|ACIN1_ENST00000557515.1_Silent_p.E481E|ACIN1_ENST00000605057.1_Silent_p.E1182E|ACIN1_ENST00000457657.1_Silent_p.E1200E|ACIN1_ENST00000357481.2_Silent_p.E482E|ACIN1_ENST00000555053.1_Silent_p.E1227E	p.E1240E	NM_001164814.1|NM_014977.3	NP_001158286.1|NP_055792.1	Q9UKV3	ACINU_HUMAN		GBM - Glioblastoma multiforme(265;0.00816)	19	4047	-	all_cancers(95;1.36e-05)		1240			Arg/Asp/Glu/Lys-rich.		B2RTT4|D3DS45|O75158|Q9UG91|Q9UKV1|Q9UKV2	Silent	SNP	ENST00000262710.1	37	c.3720G>A	CCDS9587.1																																																																																				0.592	ACIN1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000071707.3	NM_014977		19	34	0	0	0	1	0	19	34					T	23528663	C	T	23528663	2	4	435	1	0	0	0	0	0	0	0	1	142	796	28	3		3	ACIN1	14	23528663	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	1	23528663	83820877	6143	27068	127	2									
ACIN1	22985	broad.mit.edu	37	chr14	23530582	23530582	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acgggaccttgatcgggaacGgggcccttctcgaactttgt	7	10	13	11	4	1	1	0	1	1	0	3	4	1	3	2	4	2	0	2	4	2	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:23530582G>A	ENST00000262710.1	-	17	3850	c.3523C>T	c.(3523-3525)Cgt>Tgt	p.R1175C	ACIN1_ENST00000397341.3_Missense_Mutation_p.R417C|ACIN1_ENST00000605057.1_Missense_Mutation_p.R1117C|ACIN1_ENST00000338631.6_Missense_Mutation_p.R448C|ACIN1_ENST00000555053.1_Missense_Mutation_p.R1162C|ACIN1_ENST00000357481.2_Missense_Mutation_p.R417C|ACIN1_ENST00000557515.1_Missense_Mutation_p.R416C|ACIN1_ENST00000457657.1_Missense_Mutation_p.R1135C	NM_001164814.1|NM_014977.3	NP_001158286.1|NP_055792	Q9UKV3	ACINU_HUMAN	apoptotic chromatin condensation inducer 1	1175	Arg/Asp/Glu/Lys-rich.				apoptotic chromosome condensation (GO:0030263)|apoptotic process (GO:0006915)|ATP catabolic process (GO:0006200)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|erythrocyte differentiation (GO:0030218)|mRNA processing (GO:0006397)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|positive regulation of apoptotic process (GO:0043065)|positive regulation of monocyte differentiation (GO:0045657)|RNA splicing (GO:0008380)	ASAP complex (GO:0061574)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATPase activity (GO:0016887)|enzyme binding (GO:0019899)|nucleic acid binding (GO:0003676)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(6)|kidney(4)|large_intestine(9)|lung(10)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	37	all_cancers(95;1.36e-05)			GBM - Glioblastoma multiforme(265;0.00816)		GATCGGGAACGGGGCCCTTCT	0.577																																						ENST00000262710.1																			0				breast(1)|endometrium(6)|kidney(4)|large_intestine(9)|lung(10)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	37						c.(3523-3525)Cgt>Tgt		apoptotic chromatin condensation inducer 1							120	125	123					14																	23530582		2203	4300	6503	SO:0001583	missense	22985				apoptotic chromosome condensation|erythrocyte differentiation|positive regulation of monocyte differentiation	cytosol	ATPase activity|enzyme binding|nucleic acid binding|nucleotide binding	g.chr14:23530582G>A	AB014570	CCDS9587.1, CCDS53887.1, CCDS53888.1, CCDS53889.1, CCDS55905.1	14q11.2	2008-11-25	2004-03-31	2004-04-01	ENSG00000100813	ENSG00000100813			17066	protein-coding gene	gene with protein product	"functional spliceosome-associated protein 152"	604562	"apoptotic chromatin condensation inducer in the nucleus"	ACINUS		9734811, 10490026	Standard	NM_014977		Approved	KIAA0670, fSAP152	uc001wit.4	Q9UKV3	OTTHUMG00000028716	ENST00000262710.1:c.3523C>T	14.37:g.23530582G>A	ENSP00000262710:p.Arg1175Cys					ACIN1_ENST00000338631.6_Missense_Mutation_p.R448C|ACIN1_ENST00000397341.3_Missense_Mutation_p.R417C|ACIN1_ENST00000557515.1_Missense_Mutation_p.R416C|ACIN1_ENST00000605057.1_Missense_Mutation_p.R1117C|ACIN1_ENST00000457657.1_Missense_Mutation_p.R1135C|ACIN1_ENST00000357481.2_Missense_Mutation_p.R417C|ACIN1_ENST00000555053.1_Missense_Mutation_p.R1162C	p.R1175C	NM_001164814.1|NM_014977.3	NP_001158286.1|NP_055792.1	Q9UKV3	ACINU_HUMAN		GBM - Glioblastoma multiforme(265;0.00816)	17	3850	-	all_cancers(95;1.36e-05)		1175			Arg/Asp/Glu/Lys-rich.		B2RTT4|D3DS45|O75158|Q9UG91|Q9UKV1|Q9UKV2	Missense_Mutation	SNP	ENST00000262710.1	37	c.3523C>T	CCDS9587.1	.	.	.	.	.	.	.	.	.	.	G	18.15	3.559571	0.65538	.	.	ENSG00000100813	ENST00000557515;ENST00000338631;ENST00000357481;ENST00000262710;ENST00000457657;ENST00000397341;ENST00000555053	T;T;T;T;T;T;T	0.21543	2.0;2.0;2.0;2.0;2.0;2.0;2.0	4.69	4.69	0.59074	.	0.000000	0.39834	N	0.001246	T	0.37128	0.0992	L	0.39898	1.24	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.76575	0.984;0.965;0.988;0.965;0.965	T	0.06826	-1.0805	10	0.59425	D	0.04	-6.1398	14.9883	0.71365	0.0:0.0:1.0:0.0	.	1162;1175;1135;448;417	G3V3M7;Q9UKV3;E7EQT4;Q9UKV3-2;Q9UKV3-3	.;ACINU_HUMAN;.;.;.	C	416;448;417;1175;1135;417;1162	ENSP00000451138:R416C;ENSP00000345541:R448C;ENSP00000350073:R417C;ENSP00000262710:R1175C;ENSP00000405677:R1135C;ENSP00000380502:R417C;ENSP00000451328:R1162C	ENSP00000262710:R1175C	R	-	1	0	ACIN1	22600422	0.989000	0.36119	0.984000	0.44739	0.862000	0.49288	1.654000	0.37334	2.579000	0.87056	0.563000	0.77884	CGT		0.577	ACIN1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000071707.3	NM_014977		29	50	0	0	0	1	0	29	50					A	23530582	G	A	23530582	3	1	435	1	0	0	0	0	1	0	0	0	142	1116	39	2	514	2	ACIN1	14	23530582	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	1919	23530582	83818958	6144	27069											
ACIN1	22985	broad.mit.edu	37	chr14	23530642	23530642	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgatcgagtccgctcccgccGctccatttcccgttcccgtt	3	12	8	18	6	0	1	0	1	0	0	6	2	5	1	6	0	0	4	6	0	0	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:23530642G>A	ENST00000262710.1	-	17	3790	c.3463C>T	c.(3463-3465)Cgg>Tgg	p.R1155W	ACIN1_ENST00000397341.3_Missense_Mutation_p.R397W|ACIN1_ENST00000605057.1_Missense_Mutation_p.R1097W|ACIN1_ENST00000338631.6_Missense_Mutation_p.R428W|ACIN1_ENST00000555053.1_Missense_Mutation_p.R1142W|ACIN1_ENST00000357481.2_Missense_Mutation_p.R397W|ACIN1_ENST00000557515.1_Missense_Mutation_p.R396W|ACIN1_ENST00000457657.1_Missense_Mutation_p.R1115W	NM_001164814.1|NM_014977.3	NP_001158286.1|NP_055792	Q9UKV3	ACINU_HUMAN	apoptotic chromatin condensation inducer 1	1155	Arg/Asp/Glu/Lys-rich.				apoptotic chromosome condensation (GO:0030263)|apoptotic process (GO:0006915)|ATP catabolic process (GO:0006200)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|erythrocyte differentiation (GO:0030218)|mRNA processing (GO:0006397)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|positive regulation of apoptotic process (GO:0043065)|positive regulation of monocyte differentiation (GO:0045657)|RNA splicing (GO:0008380)	ASAP complex (GO:0061574)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATPase activity (GO:0016887)|enzyme binding (GO:0019899)|nucleic acid binding (GO:0003676)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.R1155W(1)		breast(1)|endometrium(6)|kidney(4)|large_intestine(9)|lung(10)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	37	all_cancers(95;1.36e-05)			GBM - Glioblastoma multiforme(265;0.00816)		CGCTCCCGCCGCTCCATTTCC	0.677																																						ENST00000262710.1																			1	Substitution - Missense(1)	p.R1155W(1)	large_intestine(1)	breast(1)|endometrium(6)|kidney(4)|large_intestine(9)|lung(10)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	37						c.(3463-3465)Cgg>Tgg		apoptotic chromatin condensation inducer 1							61	65	64					14																	23530642		2203	4300	6503	SO:0001583	missense	22985				apoptotic chromosome condensation|erythrocyte differentiation|positive regulation of monocyte differentiation	cytosol	ATPase activity|enzyme binding|nucleic acid binding|nucleotide binding	g.chr14:23530642G>A	AB014570	CCDS9587.1, CCDS53887.1, CCDS53888.1, CCDS53889.1, CCDS55905.1	14q11.2	2008-11-25	2004-03-31	2004-04-01	ENSG00000100813	ENSG00000100813			17066	protein-coding gene	gene with protein product	"functional spliceosome-associated protein 152"	604562	"apoptotic chromatin condensation inducer in the nucleus"	ACINUS		9734811, 10490026	Standard	NM_014977		Approved	KIAA0670, fSAP152	uc001wit.4	Q9UKV3	OTTHUMG00000028716	ENST00000262710.1:c.3463C>T	14.37:g.23530642G>A	ENSP00000262710:p.Arg1155Trp					ACIN1_ENST00000338631.6_Missense_Mutation_p.R428W|ACIN1_ENST00000397341.3_Missense_Mutation_p.R397W|ACIN1_ENST00000557515.1_Missense_Mutation_p.R396W|ACIN1_ENST00000605057.1_Missense_Mutation_p.R1097W|ACIN1_ENST00000457657.1_Missense_Mutation_p.R1115W|ACIN1_ENST00000357481.2_Missense_Mutation_p.R397W|ACIN1_ENST00000555053.1_Missense_Mutation_p.R1142W	p.R1155W	NM_001164814.1|NM_014977.3	NP_001158286.1|NP_055792.1	Q9UKV3	ACINU_HUMAN		GBM - Glioblastoma multiforme(265;0.00816)	17	3790	-	all_cancers(95;1.36e-05)		1155			Arg/Asp/Glu/Lys-rich.		B2RTT4|D3DS45|O75158|Q9UG91|Q9UKV1|Q9UKV2	Missense_Mutation	SNP	ENST00000262710.1	37	c.3463C>T	CCDS9587.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.083561	0.76642	.	.	ENSG00000100813	ENST00000557515;ENST00000338631;ENST00000357481;ENST00000262710;ENST00000457657;ENST00000397341;ENST00000555053	T;T;T;T;T;T;T	0.19669	2.13;2.13;2.13;2.13;2.13;2.13;2.13	4.79	3.89	0.44902	.	0.000000	0.36234	N	0.002717	T	0.14874	0.0359	L	0.42245	1.32	0.58432	D	0.999993	P;P;B;B;B	0.37233	0.588;0.453;0.225;0.045;0.045	B;B;B;B;B	0.29524	0.103;0.048;0.028;0.006;0.006	T	0.04607	-1.0939	10	0.87932	D	0	-8.9866	7.7062	0.28650	0.0853:0.0:0.7536:0.1611	.	1142;1155;1115;428;397	G3V3M7;Q9UKV3;E7EQT4;Q9UKV3-2;Q9UKV3-3	.;ACINU_HUMAN;.;.;.	W	396;428;397;1155;1115;397;1142	ENSP00000451138:R396W;ENSP00000345541:R428W;ENSP00000350073:R397W;ENSP00000262710:R1155W;ENSP00000405677:R1115W;ENSP00000380502:R397W;ENSP00000451328:R1142W	ENSP00000262710:R1155W	R	-	1	2	ACIN1	22600482	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.505000	0.53356	1.358000	0.45922	0.563000	0.77884	CGG		0.677	ACIN1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000071707.3	NM_014977		6	55	0	0	0	1	0	6	55					A	23530642	G	A	23530642	3	1	435	1	0	0	0	0	1	0	0	0	142	1086	38	1	574	1	ACIN1	14	23530642	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	60	23530642	83818898	6145	27070											
C14orf119	55017	broad.mit.edu	37	chr14	23566895	23566895	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tggagtcatcctcttcaatgCcactatccttcccatctctc	7	14	4	16	0	4	0	2	0	2	0	9	1	7	1	4	1	1	0	4	1	2	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:23566895C>T	ENST00000319074.4	+	2	884	c.28C>T	c.(28-30)Cca>Tca	p.P10S	ACIN1_ENST00000605057.1_5'Flank|ACIN1_ENST00000555053.1_5'Flank|ACIN1_ENST00000262710.1_5'Flank|C14orf119_ENST00000554203.1_Missense_Mutation_p.P10S|ACIN1_ENST00000457657.1_5'Flank	NM_017924.3	NP_060394.1	Q9NWQ9	CN119_HUMAN	chromosome 14 open reading frame 119	10						mitochondrion (GO:0005739)				central_nervous_system(1)|endometrium(1)|lung(1)	3	all_cancers(95;4.6e-05)			GBM - Glioblastoma multiforme(265;0.00649)		CTCTTCAATGCCACTATCCTT	0.443																																						ENST00000319074.4																			0				central_nervous_system(1)|endometrium(1)|lung(1)	3						c.(28-30)Cca>Tca		chromosome 14 open reading frame 119							277	244	255					14																	23566895		2203	4300	6503	SO:0001583	missense	55017							g.chr14:23566895C>T		CCDS9588.1	14q11.2	2012-09-25			ENSG00000179933	ENSG00000179933			20270	protein-coding gene	gene with protein product							Standard	NM_017924		Approved	FLJ20671	uc001wiu.3	Q9NWQ9	OTTHUMG00000028717	ENST00000319074.4:c.28C>T	14.37:g.23566895C>T	ENSP00000322238:p.Pro10Ser					C14orf119_ENST00000554203.1_Missense_Mutation_p.P10S	p.P10S	NM_017924.3	NP_060394.1	Q9NWQ9	CN119_HUMAN		GBM - Glioblastoma multiforme(265;0.00649)	2	884	+	all_cancers(95;4.6e-05)		10					Q6IAA7	Missense_Mutation	SNP	ENST00000319074.4	37	c.28C>T	CCDS9588.1	.	.	.	.	.	.	.	.	.	.	C	13.35	2.211129	0.39102	.	.	ENSG00000179933	ENST00000319074;ENST00000554203	T;T	0.55052	0.54;0.54	4.94	2.74	0.32292	.	0.296103	0.31323	N	0.007855	T	0.45558	0.1348	L	0.54323	1.7	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.48736	-0.9009	10	0.87932	D	0	-3.1809	9.7239	0.40320	0.0:0.795:0.0:0.205	.	10	Q9NWQ9	CN119_HUMAN	S	10	ENSP00000322238:P10S;ENSP00000450861:P10S	ENSP00000322238:P10S	P	+	1	0	C14orf119	22636735	0.005000	0.15991	0.012000	0.15200	0.181000	0.23173	0.960000	0.29253	1.069000	0.40788	0.561000	0.74099	CCA		0.443	C14orf119-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071713.3	NM_017924		4	106	0	0	0	1	0	4	106					T	23566895	C	T	23566895	3	4	435	1	0	0	0	0	1	0	0	0	1742	739	26	3	30	3	C14orf119	14	23566895	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	36253	23566895	83782645	6146	27071											
CEBPE	1053	broad.mit.edu	37	chr14	23586748	23586748	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggccgcctcaggaatctggCggaagaggttgcggagggtg	7	7	19	8	3	2	1	1	0	1	1	2	4	2	4	2	7	1	1	2	7	2	1	rs199967428		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:23586748C>T	ENST00000206513.5	-	2	1318	c.794G>A	c.(793-795)cGc>cAc	p.R265H		NM_001805.3	NP_001796.2	Q15744	CEBPE_HUMAN	CCAAT/enhancer binding protein (C/EBP), epsilon	265	bZIP. {ECO:0000255|PROSITE- ProRule:PRU00978}.				cellular response to lipopolysaccharide (GO:0071222)|cytokine biosynthetic process (GO:0042089)|defense response (GO:0006952)|defense response to bacterium (GO:0042742)|macrophage differentiation (GO:0030225)|phagocytosis (GO:0006909)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(1)	9	all_cancers(95;4.6e-05)			GBM - Glioblastoma multiforme(265;0.0064)		AGGAATCTGGCGGAAGAGGTT	0.647													C|||	1	0.000199681	0	0	5008	,	,		15887	0		0.001	False		,,,				2504	0				NSCLC(63;1230 1818 14565 22565)	ENST00000206513.5																			0				large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(1)	9						c.(793-795)cGc>cAc		CCAAT/enhancer binding protein (C/EBP), epsilon							50	39	43					14																	23586748		2203	4300	6503	SO:0001583	missense	1053					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr14:23586748C>T		CCDS9589.1	14q11.2	2014-09-17			ENSG00000092067	ENSG00000092067		"basic leucine zipper proteins"	1836	protein-coding gene	gene with protein product		600749				8661101	Standard	NM_001805		Approved	CRP1	uc001wiv.2	Q15744	OTTHUMG00000028719	ENST00000206513.5:c.794G>A	14.37:g.23586748C>T	ENSP00000206513:p.Arg265His						p.R265H	NM_001805.3	NP_001796.2	Q15744	CEBPE_HUMAN		GBM - Glioblastoma multiforme(265;0.0064)	2	1318	-	all_cancers(95;4.6e-05)		265			Leucine-zipper.		Q15745|Q8IYI2|Q99803	Missense_Mutation	SNP	ENST00000206513.5	37	c.794G>A	CCDS9589.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	25.0	4.589588	0.86851	.	.	ENSG00000092067	ENST00000206513	T	0.42900	0.96	5.49	5.49	0.81192	Basic-leucine zipper (bZIP) transcription factor (2);	0.000000	0.85682	D	0.000000	T	0.58018	0.2093	L	0.46157	1.445	0.45567	D	0.998518	D	0.76494	0.999	D	0.64506	0.926	T	0.59332	-0.7474	10	0.72032	D	0.01	-23.6527	18.1405	0.89638	0.0:1.0:0.0:0.0	.	265	Q15744	CEBPE_HUMAN	H	265	ENSP00000206513:R265H	ENSP00000206513:R265H	R	-	2	0	CEBPE	22656588	0.981000	0.34729	1.000000	0.80357	0.998000	0.95712	1.635000	0.37134	2.578000	0.87016	0.655000	0.94253	CGC		0.647	CEBPE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071716.2	NM_001805		7	10	0	0	0	1	0	7	10					T	23586748	C	T	23586748	3	4	435	1	0	0	0	0	1	0	0	0	3202	768	27	1	55	1	CEBPE	14	23586748	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	19853	23586748	83762792	6147	27072											
HOMEZ	57594	broad.mit.edu	37	chr14	23745118	23745118	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgttcaaggagcgggttgatGgtggtggtgtaggaattgct	7	12	18	4	2	1	1	1	1	0	0	1	3	1	3	0	6	2	4	0	6	3	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:23745118G>T	ENST00000357460.5	-	2	1483	c.1319C>A	c.(1318-1320)cCa>cAa	p.P440Q	HOMEZ_ENST00000561013.1_Missense_Mutation_p.P442Q|HOMEZ_ENST00000431326.2_Missense_Mutation_p.P442Q	NM_020834.2	NP_065885.2	Q8IX15	HOMEZ_HUMAN	homeobox and leucine zipper encoding	440	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(5)|lung(7)	12	all_cancers(95;5.54e-06)			GBM - Glioblastoma multiforme(265;0.00643)		GCGGGTTGATGGTGGTGGTGT	0.567																																						ENST00000357460.5																			0				endometrium(5)|lung(7)	12						c.(1318-1320)cCa>cAa		homeobox and leucine zipper encoding							121	117	119					14																	23745118		2054	4202	6256	SO:0001583	missense	57594					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr14:23745118G>T	AB037864	CCDS45085.1	14q11.2	2011-06-20	2007-02-15	2007-02-15		ENSG00000215271		"Homeoboxes / ZF class"	20164	protein-coding gene	gene with protein product		608119	"KIAA1443"	KIAA1443		12925734	Standard	NM_020834		Approved		uc001wja.2	Q8IX15		ENST00000357460.5:c.1319C>A	14.37:g.23745118G>T	ENSP00000350049:p.Pro440Gln					HOMEZ_ENST00000431326.2_Missense_Mutation_p.P442Q|HOMEZ_ENST00000561013.1_Missense_Mutation_p.P442Q	p.P440Q	NM_020834.2	NP_065885.2	Q8IX15	HOMEZ_HUMAN		GBM - Glioblastoma multiforme(265;0.00643)	2	1483	-	all_cancers(95;5.54e-06)		440			Pro-rich.		A1L445|B4DZ80|F8WCA3|Q6P049|Q86XB6|Q9P2A5	Missense_Mutation	SNP	ENST00000357460.5	37	c.1319C>A	CCDS45085.1	.	.	.	.	.	.	.	.	.	.	G	13.26	2.183568	0.38609	.	.	ENSG00000215271	ENST00000357460;ENST00000431326	T;T	0.25250	1.86;1.81	4.78	4.78	0.61160	.	1.248410	0.06015	U	0.650247	T	0.26919	0.0659	L	0.29908	0.895	0.36642	D	0.876909	D;P	0.53151	0.958;0.93	P;B	0.45506	0.483;0.289	T	0.13282	-1.0515	10	0.20046	T	0.44	-14.6222	15.1114	0.72359	0.0:0.0:1.0:0.0	.	442;440	F8WCA3;Q8IX15	.;HOMEZ_HUMAN	Q	440;442	ENSP00000350049:P440Q;ENSP00000406579:P442Q	ENSP00000350049:P440Q	P	-	2	0	HOMEZ	22814958	0.996000	0.38824	0.983000	0.44433	0.847000	0.48162	4.497000	0.60367	2.369000	0.80426	0.655000	0.94253	CCA		0.567	HOMEZ-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000416939.2	NM_020834		6	10	1	0	0.0215528	1	0.0217053	6	10					T	23745118	G	T	23745118	3	4	435	1	0	0	0	0	1	0	0	0	7281	1348	47	5	337	5	HOMEZ	14	23745118	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	158370	23745118	83604422	6148	27073											
HOMEZ	57594	broad.mit.edu	37	chr14	23745398	23745398	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atctggggaaaggtactctgTggggccaactctacctggta	9	10	13	9	0	3	0	0	0	3	0	3	1	3	1	2	6	3	2	2	6	5	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:23745398T>G	ENST00000357460.5	-	2	1203	c.1039A>C	c.(1039-1041)Aca>Cca	p.T347P	HOMEZ_ENST00000561013.1_Missense_Mutation_p.T349P|HOMEZ_ENST00000431326.2_Missense_Mutation_p.T349P	NM_020834.2	NP_065885.2	Q8IX15	HOMEZ_HUMAN	homeobox and leucine zipper encoding	347					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(5)|lung(7)	12	all_cancers(95;5.54e-06)			GBM - Glioblastoma multiforme(265;0.00643)		AGGTACTCTGTGGGGCCAACT	0.522																																						ENST00000357460.5																			0				endometrium(5)|lung(7)	12						c.(1039-1041)Aca>Cca		homeobox and leucine zipper encoding							165	165	165					14																	23745398		1975	4143	6118	SO:0001583	missense	57594					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr14:23745398T>G	AB037864	CCDS45085.1	14q11.2	2011-06-20	2007-02-15	2007-02-15		ENSG00000215271		"Homeoboxes / ZF class"	20164	protein-coding gene	gene with protein product		608119	"KIAA1443"	KIAA1443		12925734	Standard	NM_020834		Approved		uc001wja.2	Q8IX15		ENST00000357460.5:c.1039A>C	14.37:g.23745398T>G	ENSP00000350049:p.Thr347Pro					HOMEZ_ENST00000431326.2_Missense_Mutation_p.T349P|HOMEZ_ENST00000561013.1_Missense_Mutation_p.T349P	p.T347P	NM_020834.2	NP_065885.2	Q8IX15	HOMEZ_HUMAN		GBM - Glioblastoma multiforme(265;0.00643)	2	1203	-	all_cancers(95;5.54e-06)		347					A1L445|B4DZ80|F8WCA3|Q6P049|Q86XB6|Q9P2A5	Missense_Mutation	SNP	ENST00000357460.5	37	c.1039A>C	CCDS45085.1	.	.	.	.	.	.	.	.	.	.	T	2.734	-0.263840	0.05754	.	.	ENSG00000215271	ENST00000357460;ENST00000431326	T;T	0.25749	1.78;1.79	5.87	0.856	0.19019	.	0.644234	0.13093	N	0.414382	T	0.11965	0.0291	N	0.19112	0.55	0.09310	N	1	P;B	0.37864	0.61;0.337	B;B	0.35413	0.202;0.1	T	0.21348	-1.0248	10	0.18276	T	0.48	-1.5572	4.0219	0.09670	0.2809:0.4755:0.0:0.2436	.	349;347	F8WCA3;Q8IX15	.;HOMEZ_HUMAN	P	347;349	ENSP00000350049:T347P;ENSP00000406579:T349P	ENSP00000350049:T347P	T	-	1	0	HOMEZ	22815238	0.830000	0.29337	0.002000	0.10522	0.155000	0.21991	0.143000	0.16115	-0.061000	0.13110	-0.408000	0.06270	ACA		0.522	HOMEZ-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000416939.2	NM_020834		4	87	0	0	0	1	0	4	87					G	23745398	T	G	23745398	3	3	435	1	0	0	0	0	1	0	0	0	7281	1696	59	5	617	5	HOMEZ	14	23745398	Missense_Mutation	SNP	T	TCGA-XK-AAIW-01A-11D-A41K-08	280	23745398	83604142	6149	27074											
SLC22A17	51310	broad.mit.edu	37	chr14	23816920	23816920	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccacaggctggtagcagtggCgaatggcatgggcaatgaag	11	6	16	8	1	0	1	0	1	0	0	0	2	0	1	1	5	1	5	1	5	4	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:23816920C>T	ENST00000206544.8	-	7	1301	c.965G>A	c.(964-966)cGc>cAc	p.R322H	SLC22A17_ENST00000397267.1_Missense_Mutation_p.R322H|SLC22A17_ENST00000397260.3_Missense_Mutation_p.R211H|SLC22A17_ENST00000474057.1_5'UTR|SLC22A17_ENST00000354772.3_Missense_Mutation_p.R322H	NM_020372.2	NP_065105.2	Q8WUG5	S22AH_HUMAN	solute carrier family 22, member 17	322					ion transport (GO:0006811)|iron ion homeostasis (GO:0055072)|siderophore transport (GO:0015891)	integral component of organelle membrane (GO:0031301)|integral component of plasma membrane (GO:0005887)|vacuole (GO:0005773)	transmembrane signaling receptor activity (GO:0004888)|transmembrane transporter activity (GO:0022857)			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	15	all_cancers(95;7.12e-06)			GBM - Glioblastoma multiforme(265;0.00643)		GTAGCAGTGGCGAATGGCATG	0.622																																						ENST00000354772.3																			0				breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	15						c.(964-966)cGc>cAc		solute carrier family 22, member 17							59	66	64					14																	23816920		2203	4300	6503	SO:0001583	missense	51310				siderophore transport	integral to organelle membrane|integral to plasma membrane|vacuolar membrane	transmembrane receptor activity|transmembrane transporter activity	g.chr14:23816920C>T	AJ243653	CCDS9593.1, CCDS9594.2	14q11.2	2013-05-22	2008-01-11		ENSG00000092096	ENSG00000092096		"Solute carriers"	23095	protein-coding gene	gene with protein product	"neutrophil gelatinase-associated lipocalin receptor"	611461				16377569	Standard	NM_016609		Approved	BOCT, BOIT, NGALR	uc001wjl.3	Q8WUG5	OTTHUMG00000028740	ENST00000206544.8:c.965G>A	14.37:g.23816920C>T	ENSP00000206544:p.Arg322His					SLC22A17_ENST00000397267.1_Missense_Mutation_p.R322H|SLC22A17_ENST00000206544.8_Missense_Mutation_p.R322H|SLC22A17_ENST00000474057.1_5'UTR|SLC22A17_ENST00000397260.3_Missense_Mutation_p.R211H	p.R322H	NM_016609.3	NP_057693.3	Q8WUG5	S22AH_HUMAN		GBM - Glioblastoma multiforme(265;0.00643)	8	1468	-	all_cancers(95;7.12e-06)		322					A4UA13|A8MUT0|Q2TAB0|Q5BKY8|Q86U04|Q9H1D3|Q9NQD5	Missense_Mutation	SNP	ENST00000206544.8	37	c.965G>A	CCDS9593.1	.	.	.	.	.	.	.	.	.	.	C	10.40	1.339401	0.24339	.	.	ENSG00000092096	ENST00000354772;ENST00000397260;ENST00000206544;ENST00000397267	T;T;T;T	0.74002	-0.8;-0.8;-0.8;-0.8	5.04	4.13	0.48395	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.488080	0.20336	N	0.094339	T	0.70894	0.3276	N	0.17278	0.47	0.32503	N	0.538628	D;B	0.76494	0.999;0.341	P;B	0.62435	0.902;0.036	T	0.70139	-0.4954	10	0.15499	T	0.54	-4.1979	12.6025	0.56504	0.0:0.8327:0.1673:0.0	.	322;322	Q8WUG5-2;Q8WUG5	.;S22AH_HUMAN	H	322;211;322;322	ENSP00000346824:R322H;ENSP00000380430:R211H;ENSP00000206544:R322H;ENSP00000380437:R322H	ENSP00000206544:R322H	R	-	2	0	SLC22A17	22886760	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.288000	0.33296	1.321000	0.45227	0.655000	0.94253	CGC		0.622	SLC22A17-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000157223.3	NM_020372		24	24	0	0	0	1	0	24	24					T	23816920	C	T	23816920	3	4	435	1	0	0	0	0	1	0	0	0	14448	768	27	1	663	1	SLC22A17	14	23816920	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	71522	23816920	83532620	6150	27075											
MYH6	4624	broad.mit.edu	37	chr14	23853677	23853677	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggtgagctccttgatgcgccGctcgctcttcctcatgccct	3	12	10	16	3	2	2	1	2	1	0	5	2	4	2	4	1	3	3	4	1	0	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:23853677G>A	ENST00000356287.3	-	35	5568	c.5539C>T	c.(5539-5541)Cgg>Tgg	p.R1847W	MYH6_ENST00000405093.3_Missense_Mutation_p.R1847W			P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	1847					adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|atrial cardiac muscle tissue morphogenesis (GO:0055009)|BMP signaling pathway (GO:0030509)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle fiber development (GO:0048739)|in utero embryonic development (GO:0001701)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|myofibril assembly (GO:0030239)|regulation of ATPase activity (GO:0043462)|regulation of blood pressure (GO:0008217)|regulation of heart contraction (GO:0008016)|regulation of heart growth (GO:0060420)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|sarcomere organization (GO:0045214)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visceral muscle development (GO:0007522)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin complex (GO:0016459)|myosin filament (GO:0032982)|nucleus (GO:0005634)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|protein kinase binding (GO:0019901)			breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		TTGATGCGCCGCTCGCTCTTC	0.652																																						ENST00000405093.3																			0				breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119						c.(5539-5541)Cgg>Tgg		myosin, heavy chain 6, cardiac muscle, alpha							122	122	122					14																	23853677		2203	4300	6503	SO:0001583	missense	4624				adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle	g.chr14:23853677G>A	D00943	CCDS9600.1	14q11.2-q13	2014-09-17	2008-08-01		ENSG00000197616	ENSG00000197616		"Myosins / Myosin superfamily : Class II"	7576	protein-coding gene	gene with protein product	"cardiomyopathy, hypertrophic 1"	160710	"myosin, heavy polypeptide 6, cardiac muscle, alpha (cardiomyopathy, hypertrophic 1)"			2144212	Standard	NM_002471		Approved		uc001wjv.3	P13533	OTTHUMG00000028753	ENST00000356287.3:c.5539C>T	14.37:g.23853677G>A	ENSP00000348634:p.Arg1847Trp					MYH6_ENST00000356287.3_Missense_Mutation_p.R1847W	p.R1847W	NM_002471.3	NP_002462.2	P13533	MYH6_HUMAN		GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)	36	5609	-	all_cancers(95;2.54e-05)		1847					A2RTX1|D9YZU2|Q13943|Q14906|Q14907	Missense_Mutation	SNP	ENST00000356287.3	37	c.5539C>T	CCDS9600.1	.	.	.	.	.	.	.	.	.	.	g	18.45	3.627555	0.66901	.	.	ENSG00000197616	ENST00000405093;ENST00000356287	D;D	0.83914	-1.78;-1.78	4.3	3.33	0.38152	Myosin tail (1);	.	.	.	.	D	0.93575	0.7949	H	0.97265	3.97	0.50813	D	0.999895	D	0.89917	1.0	D	0.97110	1.0	D	0.94643	0.7832	9	0.87932	D	0	.	12.1652	0.54125	0.0:0.0:0.7026:0.2974	.	1847	P13533	MYH6_HUMAN	W	1847	ENSP00000386041:R1847W;ENSP00000348634:R1847W	ENSP00000348634:R1847W	R	-	1	2	MYH6	22923517	0.911000	0.30947	1.000000	0.80357	0.998000	0.95712	-0.020000	0.12525	2.395000	0.81488	0.561000	0.74099	CGG		0.652	MYH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071796.3			50	85	0	0	0	1	0	50	85					A	23853677	G	A	23853677	3	1	435	1	0	0	0	0	1	0	0	0	10038	1086	38	1	296	1	MYH6	14	23853677	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	36757	23853677	83495863	6151	27076											
MYH6	4624	broad.mit.edu	37	chr14	23853760	23853760	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cctccagctcccgcacccgcGcttccagcttctgcagctgc	4	8	8	21	3	1	0	0	0	1	0	4	0	4	0	5	0	5	6	5	0	0	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:23853760G>A	ENST00000356287.3	-	35	5485	c.5456C>T	c.(5455-5457)gCg>gTg	p.A1819V	MYH6_ENST00000405093.3_Missense_Mutation_p.A1819V			P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	1819					adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|atrial cardiac muscle tissue morphogenesis (GO:0055009)|BMP signaling pathway (GO:0030509)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle fiber development (GO:0048739)|in utero embryonic development (GO:0001701)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|myofibril assembly (GO:0030239)|regulation of ATPase activity (GO:0043462)|regulation of blood pressure (GO:0008217)|regulation of heart contraction (GO:0008016)|regulation of heart growth (GO:0060420)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|sarcomere organization (GO:0045214)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visceral muscle development (GO:0007522)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin complex (GO:0016459)|myosin filament (GO:0032982)|nucleus (GO:0005634)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|protein kinase binding (GO:0019901)			breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		CCGCACCCGCGCTTCCAGCTT	0.632																																						ENST00000405093.3																			0				breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119						c.(5455-5457)gCg>gTg		myosin, heavy chain 6, cardiac muscle, alpha							79	79	79					14																	23853760		2203	4300	6503	SO:0001583	missense	4624				adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle	g.chr14:23853760G>A	D00943	CCDS9600.1	14q11.2-q13	2014-09-17	2008-08-01		ENSG00000197616	ENSG00000197616		"Myosins / Myosin superfamily : Class II"	7576	protein-coding gene	gene with protein product	"cardiomyopathy, hypertrophic 1"	160710	"myosin, heavy polypeptide 6, cardiac muscle, alpha (cardiomyopathy, hypertrophic 1)"			2144212	Standard	NM_002471		Approved		uc001wjv.3	P13533	OTTHUMG00000028753	ENST00000356287.3:c.5456C>T	14.37:g.23853760G>A	ENSP00000348634:p.Ala1819Val					MYH6_ENST00000356287.3_Missense_Mutation_p.A1819V	p.A1819V	NM_002471.3	NP_002462.2	P13533	MYH6_HUMAN		GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)	36	5526	-	all_cancers(95;2.54e-05)		1819					A2RTX1|D9YZU2|Q13943|Q14906|Q14907	Missense_Mutation	SNP	ENST00000356287.3	37	c.5456C>T	CCDS9600.1	.	.	.	.	.	.	.	.	.	.	g	14.27	2.484119	0.44147	.	.	ENSG00000197616	ENST00000405093;ENST00000356287	T;T	0.78126	-1.15;-1.15	4.82	4.82	0.62117	Myosin tail (1);	.	.	.	.	T	0.80042	0.4551	M	0.83692	2.655	0.46396	D	0.999023	B	0.19200	0.034	B	0.24848	0.056	T	0.79050	-0.1962	9	0.52906	T	0.07	.	13.9727	0.64252	0.0:0.1517:0.8482:0.0	.	1819	P13533	MYH6_HUMAN	V	1819	ENSP00000386041:A1819V;ENSP00000348634:A1819V	ENSP00000348634:A1819V	A	-	2	0	MYH6	22923600	1.000000	0.71417	0.979000	0.43373	0.368000	0.29767	6.554000	0.73923	2.395000	0.81488	0.561000	0.74099	GCG		0.632	MYH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071796.3			19	71	0	0	0	1	0	19	71					A	23853760	G	A	23853760	3	1	435	1	0	0	0	0	1	0	0	0	10038	1087	38	1	379	1	MYH6	14	23853760	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	83	23853760	83495780	6152	27077											
MYH6	4624	broad.mit.edu	37	chr14	23855661	23855661	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggacctcgttgcggctgcGtgtctctgcatccagggagg	5	9	15	12	3	1	0	0	0	1	0	4	2	2	2	2	4	3	3	2	4	0	1	rs201683868		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:23855661G>A	ENST00000356287.3	-	32	4851	c.4822C>T	c.(4822-4824)Cgc>Tgc	p.R1608C	MYH6_ENST00000405093.3_Missense_Mutation_p.R1608C|MIR208A_ENST00000362287.1_RNA			P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	1608					adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|atrial cardiac muscle tissue morphogenesis (GO:0055009)|BMP signaling pathway (GO:0030509)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle fiber development (GO:0048739)|in utero embryonic development (GO:0001701)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|myofibril assembly (GO:0030239)|regulation of ATPase activity (GO:0043462)|regulation of blood pressure (GO:0008217)|regulation of heart contraction (GO:0008016)|regulation of heart growth (GO:0060420)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|sarcomere organization (GO:0045214)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visceral muscle development (GO:0007522)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin complex (GO:0016459)|myosin filament (GO:0032982)|nucleus (GO:0005634)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|protein kinase binding (GO:0019901)			breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		TTGCGGCTGCGTGTCTCTGCA	0.617																																						ENST00000405093.3																			0				breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119						c.(4822-4824)Cgc>Tgc		myosin, heavy chain 6, cardiac muscle, alpha		G	CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	167	155	159		4822	3.6	0.9	14		159	0,8600		0,0,4300	no	missense	MYH6	NM_002471.3	180	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	1608/1940	23855661	1,13005	2203	4300	6503	SO:0001583	missense	4624				adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle	g.chr14:23855661G>A	D00943	CCDS9600.1	14q11.2-q13	2014-09-17	2008-08-01		ENSG00000197616	ENSG00000197616		"Myosins / Myosin superfamily : Class II"	7576	protein-coding gene	gene with protein product	"cardiomyopathy, hypertrophic 1"	160710	"myosin, heavy polypeptide 6, cardiac muscle, alpha (cardiomyopathy, hypertrophic 1)"			2144212	Standard	NM_002471		Approved		uc001wjv.3	P13533	OTTHUMG00000028753	ENST00000356287.3:c.4822C>T	14.37:g.23855661G>A	ENSP00000348634:p.Arg1608Cys					MYH6_ENST00000356287.3_Missense_Mutation_p.R1608C	p.R1608C	NM_002471.3	NP_002462.2	P13533	MYH6_HUMAN		GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)	33	4892	-	all_cancers(95;2.54e-05)		1608					A2RTX1|D9YZU2|Q13943|Q14906|Q14907	Missense_Mutation	SNP	ENST00000356287.3	37	c.4822C>T	CCDS9600.1	.	.	.	.	.	.	.	.	.	.	g	17.09	3.301434	0.60195	2.27E-4	0.0	ENSG00000197616	ENST00000405093;ENST00000356287	D;D	0.82344	-1.6;-1.6	4.5	3.6	0.41247	Myosin tail (1);	.	.	.	.	D	0.92506	0.7620	M	0.93678	3.445	0.51482	D	0.999923	D	0.89917	1.0	D	0.76575	0.988	D	0.93522	0.6862	9	0.87932	D	0	.	12.4588	0.55721	0.0:0.0:0.57:0.43	.	1608	P13533	MYH6_HUMAN	C	1608	ENSP00000386041:R1608C;ENSP00000348634:R1608C	ENSP00000348634:R1608C	R	-	1	0	MYH6	22925501	0.742000	0.28228	0.897000	0.35233	0.891000	0.51852	1.019000	0.30014	0.990000	0.38787	0.561000	0.74099	CGC		0.617	MYH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071796.3			4	110	0	0	0	1	0	4	110					A	23855661	G	A	23855661	3	1	435	1	0	0	0	0	1	0	0	0	10038	1145	40	1	1025	1	MYH6	14	23855661	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	1901	23855661	83493879	6153	27078											
MYH6	4624	broad.mit.edu	37	chr14	23858175	23858175	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aggacgcgctgcagctcggcCttggcctctgtctcctcctc	3	10	11	17	3	2	0	0	0	2	0	6	1	3	1	4	3	2	3	4	3	0	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:23858175C>T	ENST00000356287.3	-	28	4097	c.4068G>A	c.(4066-4068)aaG>aaA	p.K1356K	MYH6_ENST00000405093.3_Silent_p.K1356K|MIR208A_ENST00000362287.1_RNA			P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	1356					adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|atrial cardiac muscle tissue morphogenesis (GO:0055009)|BMP signaling pathway (GO:0030509)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle fiber development (GO:0048739)|in utero embryonic development (GO:0001701)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|myofibril assembly (GO:0030239)|regulation of ATPase activity (GO:0043462)|regulation of blood pressure (GO:0008217)|regulation of heart contraction (GO:0008016)|regulation of heart growth (GO:0060420)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|sarcomere organization (GO:0045214)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visceral muscle development (GO:0007522)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin complex (GO:0016459)|myosin filament (GO:0032982)|nucleus (GO:0005634)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|protein kinase binding (GO:0019901)			breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		GCAGCTCGGCCTTGGCCTCTG	0.662																																						ENST00000405093.3																			0				breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119						c.(4066-4068)aaG>aaA		myosin, heavy chain 6, cardiac muscle, alpha							65	58	61					14																	23858175		2203	4300	6503	SO:0001819	synonymous_variant	4624				adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle	g.chr14:23858175C>T	D00943	CCDS9600.1	14q11.2-q13	2014-09-17	2008-08-01		ENSG00000197616	ENSG00000197616		"Myosins / Myosin superfamily : Class II"	7576	protein-coding gene	gene with protein product	"cardiomyopathy, hypertrophic 1"	160710	"myosin, heavy polypeptide 6, cardiac muscle, alpha (cardiomyopathy, hypertrophic 1)"			2144212	Standard	NM_002471		Approved		uc001wjv.3	P13533	OTTHUMG00000028753	ENST00000356287.3:c.4068G>A	14.37:g.23858175C>T						MYH6_ENST00000356287.3_Silent_p.K1356K	p.K1356K	NM_002471.3	NP_002462.2	P13533	MYH6_HUMAN		GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)	29	4138	-	all_cancers(95;2.54e-05)		1356					A2RTX1|D9YZU2|Q13943|Q14906|Q14907	Silent	SNP	ENST00000356287.3	37	c.4068G>A	CCDS9600.1																																																																																				0.662	MYH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071796.3			13	36	0	0	0	1	0	13	36					T	23858175	C	T	23858175	2	4	435	1	0	0	0	0	0	0	0	1	10038	680	24	3		3	MYH6	14	23858175	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	2514	23858175	83491365	6154	27079											
MYH7	4625	broad.mit.edu	37	chr14	23888705	23888705	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggctcaccattctcggtttgCaacttggcccgctggctggt	4	12	12	13	2	2	0	1	0	1	0	3	0	2	0	2	5	2	5	2	5	1	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:23888705C>T	ENST00000355349.3	-	28	4002	c.3840G>A	c.(3838-3840)ttG>ttA	p.L1280L	MIR208B_ENST00000401172.1_RNA	NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	1280					adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|myosin complex (GO:0016459)|myosin filament (GO:0032982)|nucleus (GO:0005634)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		TCTCGGTTTGCAACTTGGCCC	0.602																																						ENST00000355349.3																			0				NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137						c.(3838-3840)ttG>ttA		myosin, heavy chain 7, cardiac muscle, beta							103	92	96					14																	23888705		2203	4300	6503	SO:0001819	synonymous_variant	4625				adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr14:23888705C>T	M58018	CCDS9601.1	14q11.2-q13	2014-09-17	2006-09-29		ENSG00000092054	ENSG00000092054		"Myosins / Myosin superfamily : Class II"	7577	protein-coding gene	gene with protein product		160760	"myopathy, distal 1", "myosin, heavy polypeptide 7, cardiac muscle, beta"	CMH1, MPD1		2494889, 8483915, 15322983	Standard	XM_005267696		Approved	CMD1S	uc001wjx.3	P12883	OTTHUMG00000028755	ENST00000355349.3:c.3840G>A	14.37:g.23888705C>T							p.L1280L	NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN		GBM - Glioblastoma multiforme(265;0.00725)	28	4002	-	all_cancers(95;2.54e-05)		1280					A2TDB6|B6D424|Q14836|Q14837|Q14904|Q16579|Q2M1Y6|Q92679|Q9H1D5|Q9UDA2|Q9UMM8	Silent	SNP	ENST00000355349.3	37	c.3840G>A	CCDS9601.1																																																																																				0.602	MYH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071798.3	NM_000257		28	73	0	0	0	1	0	28	73					T	23888705	C	T	23888705	2	4	435	1	0	0	0	0	0	0	0	1	10039	709	25	3		3	MYH7	14	23888705	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	30530	23888705	83460835	6155	27080											
MYH7	4625	broad.mit.edu	37	chr14	23894603	23894603	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cctcatttcctccagcagccCcagcagcccggccttgaaga	8	7	8	18	1	1	2	1	1	0	1	3	2	3	2	7	1	4	2	7	1	1	2			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:23894603C>A	ENST00000355349.3	-	21	2473	c.2311G>T	c.(2311-2313)Ggg>Tgg	p.G771W		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	771	Actin-binding.|Myosin motor.				adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|myosin complex (GO:0016459)|myosin filament (GO:0032982)|nucleus (GO:0005634)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		TCCAGCAGCCCCAGCAGCCCG	0.582																																						ENST00000355349.3																			0				NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137						c.(2311-2313)Ggg>Tgg		myosin, heavy chain 7, cardiac muscle, beta							57	54	55					14																	23894603		2203	4300	6503	SO:0001583	missense	4625				adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr14:23894603C>A	M58018	CCDS9601.1	14q11.2-q13	2014-09-17	2006-09-29		ENSG00000092054	ENSG00000092054		"Myosins / Myosin superfamily : Class II"	7577	protein-coding gene	gene with protein product		160760	"myopathy, distal 1", "myosin, heavy polypeptide 7, cardiac muscle, beta"	CMH1, MPD1		2494889, 8483915, 15322983	Standard	XM_005267696		Approved	CMD1S	uc001wjx.3	P12883	OTTHUMG00000028755	ENST00000355349.3:c.2311G>T	14.37:g.23894603C>A	ENSP00000347507:p.Gly771Trp						p.G771W	NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN		GBM - Glioblastoma multiforme(265;0.00725)	21	2473	-	all_cancers(95;2.54e-05)		771			Actin-binding.|Myosin head-like.		A2TDB6|B6D424|Q14836|Q14837|Q14904|Q16579|Q2M1Y6|Q92679|Q9H1D5|Q9UDA2|Q9UMM8	Missense_Mutation	SNP	ENST00000355349.3	37	c.2311G>T	CCDS9601.1	.	.	.	.	.	.	.	.	.	.	C	26.2	4.715621	0.89112	.	.	ENSG00000092054	ENST00000355349;ENST00000544444	D	0.95238	-3.65	4.6	4.6	0.57074	Myosin head, motor domain (1);	.	.	.	.	D	0.98295	0.9435	H	0.97077	3.935	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99593	1.0976	9	0.87932	D	0	.	17.9586	0.89078	0.0:1.0:0.0:0.0	.	771	P12883	MYH7_HUMAN	W	771	ENSP00000347507:G771W	ENSP00000347507:G771W	G	-	1	0	MYH7	22964443	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.210000	0.77924	2.543000	0.85770	0.563000	0.77884	GGG		0.582	MYH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071798.3	NM_000257		8	24	1	0	1.76689e-08	1	1.86465e-08	8	24					A	23894603	C	A	23894603	3	1	435	1	0	0	0	0	1	0	0	0	10039	623	22	5	3576	5	MYH7	14	23894603	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	5898	23894603	83454937	6156	27081											
AP1G2	8906	broad.mit.edu	37	chr14	24033829	24033829	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtactgtctcaaacaggaccGcatttccggcatttcggctg	8	11	10	12	3	1	0	1	0	1	0	4	1	2	1	2	3	2	4	2	3	2	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:24033829G>A	ENST00000308724.5	-	8	1618	c.863C>T	c.(862-864)gCg>gTg	p.A288V	RP11-66N24.3_ENST00000555968.1_RNA|AP1G2_ENST00000397120.3_Missense_Mutation_p.A288V|AP1G2_ENST00000556277.1_5'UTR	NM_003917.2	NP_003908.1	O75843	AP1G2_HUMAN	adaptor-related protein complex 1, gamma 2 subunit	288					intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)|viral process (GO:0016032)	AP-1 adaptor complex (GO:0030121)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|Golgi-associated vesicle (GO:0005798)|membrane (GO:0016020)|transport vesicle (GO:0030133)	protein transporter activity (GO:0008565)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(10)|lung(4)|ovary(1)|pancreas(1)|stomach(1)	28	all_cancers(95;0.000251)			GBM - Glioblastoma multiforme(265;0.00672)		AAACAGGACCGCATTTCCGGC	0.562																																						ENST00000308724.5																			0				breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(10)|lung(4)|ovary(1)|pancreas(1)|stomach(1)	28						c.(862-864)gCg>gTg		adaptor-related protein complex 1, gamma 2 subunit							136	98	111					14																	24033829		2203	4300	6503	SO:0001583	missense	8906				interspecies interaction between organisms|intracellular protein transport|vesicle-mediated transport	AP-1 adaptor complex|endosome membrane	protein binding|protein transporter activity	g.chr14:24033829G>A	AB015318	CCDS9602.1	14q11.2	2008-07-03			ENSG00000213983	ENSG00000213983			556	protein-coding gene	gene with protein product		603534				9733768, 9762922	Standard	XM_005268167		Approved	G2AD	uc001wkl.2	O75843	OTTHUMG00000028760	ENST00000308724.5:c.863C>T	14.37:g.24033829G>A	ENSP00000312442:p.Ala288Val					AP1G2_ENST00000556277.1_5'UTR|AP1G2_ENST00000397120.3_Missense_Mutation_p.A288V|RP11-66N24.3_ENST00000555968.1_RNA	p.A288V	NM_003917.2	NP_003908.1	O75843	AP1G2_HUMAN		GBM - Glioblastoma multiforme(265;0.00672)	8	1618	-	all_cancers(95;0.000251)		288					D3DS51|O75504	Missense_Mutation	SNP	ENST00000308724.5	37	c.863C>T	CCDS9602.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.199200	0.79015	.	.	ENSG00000213983	ENST00000308724;ENST00000397120;ENST00000535852	T;T	0.30714	1.52;1.52	3.98	3.98	0.46160	Clathrin/coatomer adaptor, adaptin-like, N-terminal (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.204155	0.41823	D	0.000814	T	0.61009	0.2313	M	0.89534	3.04	0.53688	D	0.999971	D;D	0.89917	1.0;1.0	D;D	0.77004	0.985;0.989	T	0.70392	-0.4884	10	0.66056	D	0.02	-9.1326	13.6153	0.62103	0.0:0.0:1.0:0.0	.	288;143	O75843;Q86V28	AP1G2_HUMAN;.	V	288;288;143	ENSP00000312442:A288V;ENSP00000380309:A288V	ENSP00000312442:A288V	A	-	2	0	AP1G2	23103669	1.000000	0.71417	0.178000	0.23040	0.501000	0.33797	8.615000	0.90920	2.056000	0.61249	0.313000	0.20887	GCG		0.562	AP1G2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071812.4	NM_003917		26	29	0	0	0	1	0	26	29					A	24033829	G	A	24033829	3	1	435	1	0	0	0	0	1	0	0	0	733	1087	38	1	1550	1	AP1G2	14	24033829	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	139226	24033829	83315711	6157	27082											
DHRS4L2	317749	broad.mit.edu	37	chr14	24459436	24459436	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttggcccaggacagggcccaCgtggtcgtcagcagccggaa	8	5	15	13	3	1	0	1	0	0	0	2	2	1	2	3	5	2	1	3	5	1	1	rs11556286		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:24459436C>T	ENST00000335125.6	+	2	300	c.174C>T	c.(172-174)caC>caT	p.H58H	DHRS4L2_ENST00000397071.1_Silent_p.H58H|DHRS4L2_ENST00000543805.1_5'UTR|DHRS4L2_ENST00000537912.1_Silent_p.H58H|DHRS4L2_ENST00000558753.1_Silent_p.H58H|DHRS4L2_ENST00000545240.1_Silent_p.H58H|DHRS4L2_ENST00000534993.1_5'UTR|DHRS4L2_ENST00000382755.4_Silent_p.H56H	NM_198083.3	NP_932349.2	Q6PKH6	DR4L2_HUMAN	dehydrogenase/reductase (SDR family) member 4 like 2	56						extracellular region (GO:0005576)	oxidoreductase activity (GO:0016491)			breast(1)|endometrium(2)|kidney(1)|lung(2)|ovary(1)|skin(2)|stomach(1)	10				GBM - Glioblastoma multiforme(265;0.00962)		ACAGGGCCCACGTGGTCGTCA	0.652																																						ENST00000335125.6																			0				breast(1)|endometrium(2)|kidney(1)|lung(2)|ovary(1)|skin(2)|stomach(1)	10						c.(172-174)caC>caT		dehydrogenase/reductase (SDR family) member 4 like 2							54	57	56					14																	24459436		2202	4298	6500	SO:0001819	synonymous_variant	317749						binding|oxidoreductase activity	g.chr14:24459436C>T		CCDS9606.2, CCDS73621.1	14q11.2	2011-09-14			ENSG00000187630	ENSG00000187630	1.1.-.-	"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"	19731	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 25C, member 3"	615196					Standard	NM_001193635		Approved	SDR25C3	uc001wlf.3	Q6PKH6	OTTHUMG00000028778	ENST00000335125.6:c.174C>T	14.37:g.24459436C>T						DHRS4L2_ENST00000558753.1_Silent_p.H58H|DHRS4L2_ENST00000545240.1_Silent_p.H58H|DHRS4L2_ENST00000543805.1_5'UTR|DHRS4L2_ENST00000537912.1_Silent_p.H58H|DHRS4L2_ENST00000534993.1_5'UTR|DHRS4L2_ENST00000382755.4_Silent_p.H56H|DHRS4L2_ENST00000397071.1_Silent_p.H58H	p.H58H	NM_198083.3	NP_932349.2	D5KJA1	D5KJA1_HUMAN		GBM - Glioblastoma multiforme(265;0.00962)	2	300	+			30					Q3YLD4	Silent	SNP	ENST00000335125.6	37	c.174C>T	CCDS9606.2																																																																																				0.652	DHRS4L2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000071858.4			24	43	0	0	0	1	0	24	43					T	24459436	C	T	24459436	2	4	435	1	0	0	0	0	0	0	0	1	4494	535	19	1		1	DHRS4L2	14	24459436	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	425607	24459436	82890104	6158	27083											
DHRS4L2	317749	broad.mit.edu	37	chr14	24470245	24470245	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctcttctttttccagaggCggctcagtggtgatcgtgtc	4	15	11	11	2	3	2	1	1	2	1	7	2	4	2	1	3	0	1	1	3	0	3	rs375756199		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:24470245C>T	ENST00000335125.6	+	5	609	c.483C>T	c.(481-483)ggC>ggT	p.G161G	DHRS4L2_ENST00000397071.1_Intron|DHRS4L2_ENST00000543805.1_Intron|DHRS4L2_ENST00000537912.1_Intron|DHRS4L2_ENST00000558753.1_Intron|DHRS4L2_ENST00000545240.1_Intron|DHRS4L2_ENST00000534993.1_Intron|DHRS4L2_ENST00000382755.4_Silent_p.G159G	NM_198083.3	NP_932349.2	Q6PKH6	DR4L2_HUMAN	dehydrogenase/reductase (SDR family) member 4 like 2	159						extracellular region (GO:0005576)	oxidoreductase activity (GO:0016491)			breast(1)|endometrium(2)|kidney(1)|lung(2)|ovary(1)|skin(2)|stomach(1)	10				GBM - Glioblastoma multiforme(265;0.00962)		TTTCCAGAGGCGGCTCAGTGG	0.552													c|||	1	0.000199681	8e-04	0	5008	,	,		20234	0		0	False		,,,				2504	0					ENST00000335125.6																			0				breast(1)|endometrium(2)|kidney(1)|lung(2)|ovary(1)|skin(2)|stomach(1)	10						c.(481-483)ggC>ggT		dehydrogenase/reductase (SDR family) member 4 like 2		T	,,,	3,4403		0,3,2200	164	162	163		297,180,,483	-7.9	0	14		163	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,intron,coding-synonymous	DHRS4L2	NM_001193635.1,NM_001193636.1,NM_001193637.1,NM_198083.3	,,,	0,3,6500	TT,TC,CC		0.0,0.0681,0.0231	,,,	99/171,60/132,,161/233	24470245	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	317749						binding|oxidoreductase activity	g.chr14:24470245C>T		CCDS9606.2, CCDS73621.1	14q11.2	2011-09-14			ENSG00000187630	ENSG00000187630	1.1.-.-	"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"	19731	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 25C, member 3"	615196					Standard	NM_001193635		Approved	SDR25C3	uc001wlf.3	Q6PKH6	OTTHUMG00000028778	ENST00000335125.6:c.483C>T	14.37:g.24470245C>T						DHRS4L2_ENST00000558753.1_Intron|DHRS4L2_ENST00000545240.1_Intron|DHRS4L2_ENST00000543805.1_Intron|DHRS4L2_ENST00000537912.1_Intron|DHRS4L2_ENST00000534993.1_Intron|DHRS4L2_ENST00000382755.4_Silent_p.G159G|DHRS4L2_ENST00000397071.1_Intron	p.G161G	NM_198083.3	NP_932349.2	D5KJA1	D5KJA1_HUMAN		GBM - Glioblastoma multiforme(265;0.00962)	5	609	+			99					Q3YLD4	Silent	SNP	ENST00000335125.6	37	c.483C>T	CCDS9606.2																																																																																				0.552	DHRS4L2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000071858.4			21	66	0	0	0	1	0	21	66					T	24470245	C	T	24470245	2	4	435	1	0	0	0	0	0	0	0	1	4494	755	27	1		1	DHRS4L2	14	24470245	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	10809	24470245	82879295	6159	27084											
LRRC16B	90668	broad.mit.edu	37	chr14	24524777	24524777	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tggccctaatggtagcagccCtggcctacaaccagtggttc	8	9	11	13	0	0	0	0	0	0	0	1	0	0	0	4	4	4	3	4	4	4	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:24524777C>T	ENST00000342740.5	+	9	785	c.631C>T	c.(631-633)Ctg>Ttg	p.L211L	LRRC16B_ENST00000334420.7_5'UTR	NM_138360.3	NP_612369.3	Q8ND23	LR16B_HUMAN	leucine rich repeat containing 16B	211						cytoplasm (GO:0005737)				breast(3)|central_nervous_system(2)|cervix(3)|endometrium(7)|kidney(1)|large_intestine(9)|liver(1)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	52				GBM - Glioblastoma multiforme(265;0.019)		GGTAGCAGCCCTGGCCTACAA	0.572																																						ENST00000342740.5																			0				breast(3)|central_nervous_system(2)|cervix(3)|endometrium(7)|kidney(1)|large_intestine(9)|liver(1)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	52						c.(631-633)Ctg>Ttg		leucine rich repeat containing 16B							101	97	98					14																	24524777		2203	4300	6503	SO:0001819	synonymous_variant	90668							g.chr14:24524777C>T	AI017934	CCDS32054.1	14q11.2-q12	2010-09-10	2008-02-12	2008-02-12					20272	protein-coding gene	gene with protein product		614716	"chromosome 14 open reading frame 121"	C14orf121		19846667	Standard	NM_138360		Approved	BC008134, crml-1, CARMIL3	uc001wlj.2	Q8ND23		ENST00000342740.5:c.631C>T	14.37:g.24524777C>T						LRRC16B_ENST00000334420.7_5'UTR	p.L211L	NM_138360.3	NP_612369.3	Q8ND23	LR16B_HUMAN		GBM - Glioblastoma multiforme(265;0.019)	9	785	+			211					Q8TEF7|Q96HS9	Silent	SNP	ENST00000342740.5	37	c.631C>T	CCDS32054.1																																																																																				0.572	LRRC16B-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416527.1	NM_138360		32	32	0	0	0	1	0	32	32					T	24524777	C	T	24524777	2	4	435	1	0	0	0	0	0	0	0	1	8972	680	24	3		3	LRRC16B	14	24524777	Silent	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	54532	24524777	82824763	6160	27085											
LRRC16B	90668	broad.mit.edu	37	chr14	24532006	24532006	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtcctcccggggccgaggccGgaaccatgaccatgaggaga	9	4	15	13	3	0	3	0	2	0	1	2	6	2	4	6	5	1	0	6	5	1	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:24532006G>A	ENST00000342740.5	+	29	2811	c.2657G>A	c.(2656-2658)cGg>cAg	p.R886Q	LRRC16B_ENST00000334420.7_5'UTR	NM_138360.3	NP_612369.3	Q8ND23	LR16B_HUMAN	leucine rich repeat containing 16B	886						cytoplasm (GO:0005737)				breast(3)|central_nervous_system(2)|cervix(3)|endometrium(7)|kidney(1)|large_intestine(9)|liver(1)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	52				GBM - Glioblastoma multiforme(265;0.019)		GGCCGAGGCCGGAACCATGAC	0.632																																						ENST00000342740.5																			0				breast(3)|central_nervous_system(2)|cervix(3)|endometrium(7)|kidney(1)|large_intestine(9)|liver(1)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	52						c.(2656-2658)cGg>cAg		leucine rich repeat containing 16B							104	114	111					14																	24532006		2203	4300	6503	SO:0001583	missense	90668							g.chr14:24532006G>A	AI017934	CCDS32054.1	14q11.2-q12	2010-09-10	2008-02-12	2008-02-12					20272	protein-coding gene	gene with protein product		614716	"chromosome 14 open reading frame 121"	C14orf121		19846667	Standard	NM_138360		Approved	BC008134, crml-1, CARMIL3	uc001wlj.2	Q8ND23		ENST00000342740.5:c.2657G>A	14.37:g.24532006G>A	ENSP00000340467:p.Arg886Gln					LRRC16B_ENST00000334420.7_5'UTR	p.R886Q	NM_138360.3	NP_612369.3	Q8ND23	LR16B_HUMAN		GBM - Glioblastoma multiforme(265;0.019)	29	2811	+			886					Q8TEF7|Q96HS9	Missense_Mutation	SNP	ENST00000342740.5	37	c.2657G>A	CCDS32054.1	.	.	.	.	.	.	.	.	.	.	G	18.52	3.641376	0.67244	.	.	ENSG00000186648	ENST00000342740	T	0.16196	2.36	5.37	4.48	0.54585	.	0.000000	0.43110	D	0.000611	T	0.11110	0.0271	L	0.40543	1.245	0.80722	D	1	P	0.44006	0.824	B	0.30029	0.11	T	0.09596	-1.0667	10	0.38643	T	0.18	-14.0294	10.1367	0.42710	0.0927:0.0:0.9073:0.0	.	886	Q8ND23	LR16B_HUMAN	Q	886	ENSP00000340467:R886Q	ENSP00000340467:R886Q	R	+	2	0	LRRC16B	23601846	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.728000	0.54991	1.260000	0.44134	0.561000	0.74099	CGG		0.632	LRRC16B-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416527.1	NM_138360		18	20	0	0	0	1	0	18	20					A	24532006	G	A	24532006	3	1	435	1	0	0	0	0	1	0	0	0	8972	1116	39	2	2771	2	LRRC16B	14	24532006	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	7229	24532006	82817534	6161	27086											
LRRC16B	90668	broad.mit.edu	37	chr14	24532702	24532702	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaaacacaagggaggccccGcccccccaggaccacacctc	11	2	8	20	1	1	0	1	0	0	0	2	2	1	2	7	3	1	0	7	3	2	0			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:24532702G>A	ENST00000342740.5	+	31	3093	c.2939G>A	c.(2938-2940)cGc>cAc	p.R980H	LRRC16B_ENST00000334420.7_Missense_Mutation_p.R76H	NM_138360.3	NP_612369.3	Q8ND23	LR16B_HUMAN	leucine rich repeat containing 16B	980						cytoplasm (GO:0005737)				breast(3)|central_nervous_system(2)|cervix(3)|endometrium(7)|kidney(1)|large_intestine(9)|liver(1)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	52				GBM - Glioblastoma multiforme(265;0.019)		GGGAGGCCCCGCCCCCCCAGG	0.597																																						ENST00000342740.5																			0				breast(3)|central_nervous_system(2)|cervix(3)|endometrium(7)|kidney(1)|large_intestine(9)|liver(1)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	52						c.(2938-2940)cGc>cAc		leucine rich repeat containing 16B							40	49	46					14																	24532702		2203	4300	6503	SO:0001583	missense	90668							g.chr14:24532702G>A	AI017934	CCDS32054.1	14q11.2-q12	2010-09-10	2008-02-12	2008-02-12					20272	protein-coding gene	gene with protein product		614716	"chromosome 14 open reading frame 121"	C14orf121		19846667	Standard	NM_138360		Approved	BC008134, crml-1, CARMIL3	uc001wlj.2	Q8ND23		ENST00000342740.5:c.2939G>A	14.37:g.24532702G>A	ENSP00000340467:p.Arg980His					LRRC16B_ENST00000334420.7_Missense_Mutation_p.R76H	p.R980H	NM_138360.3	NP_612369.3	Q8ND23	LR16B_HUMAN		GBM - Glioblastoma multiforme(265;0.019)	31	3093	+			980					Q8TEF7|Q96HS9	Missense_Mutation	SNP	ENST00000342740.5	37	c.2939G>A	CCDS32054.1	.	.	.	.	.	.	.	.	.	.	G	19.70	3.876944	0.72180	.	.	ENSG00000186648	ENST00000342740;ENST00000334420	T;T	0.52295	0.67;0.67	5.11	5.11	0.69529	.	0.000000	0.43919	D	0.000513	T	0.64483	0.2602	L	0.57536	1.79	0.47778	D	0.999519	D;D	0.76494	0.999;0.999	D;D	0.80764	0.994;0.98	T	0.66960	-0.5791	10	0.87932	D	0	-18.9537	14.3985	0.67027	0.0:0.0:1.0:0.0	.	76;980	Q8ND23-2;Q8ND23	.;LR16B_HUMAN	H	980;76	ENSP00000340467:R980H;ENSP00000334701:R76H	ENSP00000334701:R76H	R	+	2	0	LRRC16B	23602542	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	5.144000	0.64832	2.534000	0.85438	0.555000	0.69702	CGC		0.597	LRRC16B-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416527.1	NM_138360		5	21	0	0	0	1	0	5	21					A	24532702	G	A	24532702	3	1	435	1	0	0	0	0	1	0	0	0	8972	1087	38	1	3061	1	LRRC16B	14	24532702	Missense_Mutation	SNP	G	TCGA-XK-AAIW-01A-11D-A41K-08	696	24532702	82816838	6162	27087											
DCAF11	80344	broad.mit.edu	37	chr14	24588974	24588974	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctttgctgatataagctccCaaatcctgttctctggggga	8	13	9	11	0	1	1	0	1	1	0	4	2	3	2	3	2	2	3	3	2	3	4			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:24588974C>T	ENST00000446197.3	+	11	1688	c.961C>T	c.(961-963)Caa>Taa	p.Q321*	DCAF11_ENST00000396936.1_Nonsense_Mutation_p.Q221*|DCAF11_ENST00000396941.4_Nonsense_Mutation_p.Q295*|DCAF11_ENST00000559115.1_Nonsense_Mutation_p.Q321*|RP11-468E2.6_ENST00000558325.1_5'Flank	NM_025230.4	NP_079506.3	Q8TEB1	DCA11_HUMAN	DDB1 and CUL4 associated factor 11	321					protein ubiquitination (GO:0016567)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)											TATAAGCTCCCAAATCCTGTT	0.522																																						ENST00000446197.3																			0											c.(961-963)Caa>Taa		DDB1 and CUL4 associated factor 11							103	92	95					14																	24588974		2203	4300	6503	SO:0001587	stop_gained	0					CUL4 RING ubiquitin ligase complex	protein binding	g.chr14:24588974C>T	AF130070	CCDS9610.1, CCDS41929.1	14q11.2	2013-01-09	2009-07-17	2009-07-17	ENSG00000100897	ENSG00000100897		"WD repeat domain containing", "DDB1 and CUL4 associated factors"	20258	protein-coding gene	gene with protein product		613317	"WD repeat domain 23"	WDR23			Standard	NM_025230		Approved	PRO2389, GL014	uc001wlv.3	Q8TEB1	OTTHUMG00000028793	ENST00000446197.3:c.961C>T	14.37:g.24588974C>T	ENSP00000415556:p.Gln321*					DCAF11_ENST00000396941.4_Nonsense_Mutation_p.Q295*|DCAF11_ENST00000559115.1_Nonsense_Mutation_p.Q321*|DCAF11_ENST00000396936.1_Nonsense_Mutation_p.Q221*	p.Q321*	NM_025230.4	NP_079506.3	Q8TEB1	DCA11_HUMAN			11	1688	+			321					B3KQ83|D3DS56|Q5D039|Q86U00|Q86U39|Q8NDN2|Q9H2J0|Q9H3A3|Q9H5C9	Nonsense_Mutation	SNP	ENST00000446197.3	37	c.961C>T	CCDS9610.1	.	.	.	.	.	.	.	.	.	.	c	41	8.922172	0.99004	.	.	ENSG00000100897	ENST00000326009;ENST00000446197;ENST00000396936;ENST00000396941	.	.	.	5.97	5.97	0.96955	.	0.107189	0.64402	D	0.000004	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.23302	T	0.38	-0.4935	17.9218	0.88969	0.0:1.0:0.0:0.0	.	.	.	.	X	321;295;221;295	.	ENSP00000323680:Q321X	Q	+	1	0	DCAF11	23658814	1.000000	0.71417	0.990000	0.47175	0.992000	0.81027	6.609000	0.74173	2.837000	0.97791	0.655000	0.94253	CAA		0.522	DCAF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071907.4			18	24	0	0	0	1	0	18	24					T	24588974	C	T	24588974	4	4	435	1	0	0	0	0	0	1	0	0	4262	595	21	3	999	3	DCAF11	14	24588974	Nonsense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	56272	24588974	82760566	6163	27088											
DCAF11	80344	broad.mit.edu	37	chr14	24589002	24589002	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gttctctgggggagatgatgCcatctgcaaagtgtgggatc	8	11	15	7	0	2	2	0	1	2	1	4	4	2	3	1	3	2	2	1	3	1	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:24589002C>T	ENST00000446197.3	+	11	1716	c.989C>T	c.(988-990)gCc>gTc	p.A330V	DCAF11_ENST00000396936.1_Missense_Mutation_p.A230V|DCAF11_ENST00000396941.4_Missense_Mutation_p.A304V|DCAF11_ENST00000559115.1_Missense_Mutation_p.A330V|RP11-468E2.6_ENST00000558325.1_5'Flank	NM_025230.4	NP_079506.3	Q8TEB1	DCA11_HUMAN	DDB1 and CUL4 associated factor 11	330					protein ubiquitination (GO:0016567)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)											GGAGATGATGCCATCTGCAAA	0.547																																						ENST00000446197.3																			0											c.(988-990)gCc>gTc		DDB1 and CUL4 associated factor 11							103	88	93					14																	24589002		2203	4300	6503	SO:0001583	missense	0					CUL4 RING ubiquitin ligase complex	protein binding	g.chr14:24589002C>T	AF130070	CCDS9610.1, CCDS41929.1	14q11.2	2013-01-09	2009-07-17	2009-07-17	ENSG00000100897	ENSG00000100897		"WD repeat domain containing", "DDB1 and CUL4 associated factors"	20258	protein-coding gene	gene with protein product		613317	"WD repeat domain 23"	WDR23			Standard	NM_025230		Approved	PRO2389, GL014	uc001wlv.3	Q8TEB1	OTTHUMG00000028793	ENST00000446197.3:c.989C>T	14.37:g.24589002C>T	ENSP00000415556:p.Ala330Val					DCAF11_ENST00000396941.4_Missense_Mutation_p.A304V|DCAF11_ENST00000559115.1_Missense_Mutation_p.A330V|DCAF11_ENST00000396936.1_Missense_Mutation_p.A230V	p.A330V	NM_025230.4	NP_079506.3	Q8TEB1	DCA11_HUMAN			11	1716	+			330					B3KQ83|D3DS56|Q5D039|Q86U00|Q86U39|Q8NDN2|Q9H2J0|Q9H3A3|Q9H5C9	Missense_Mutation	SNP	ENST00000446197.3	37	c.989C>T	CCDS9610.1	.	.	.	.	.	.	.	.	.	.	c	36	5.753143	0.96890	.	.	ENSG00000100897	ENST00000326009;ENST00000446197;ENST00000396936;ENST00000396941	T;T	0.01323	5.01;5.01	5.97	5.97	0.96955	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.09468	0.0233	M	0.81942	2.565	0.80722	D	1	D;D;P;D;D	0.76494	0.999;0.996;0.935;0.97;0.997	D;P;P;P;D	0.70016	0.967;0.889;0.723;0.818;0.932	T	0.00254	-1.1874	10	0.51188	T	0.08	-18.6316	17.9218	0.88969	0.0:1.0:0.0:0.0	.	253;304;230;330;330	Q59GN6;Q8TEB1-2;Q8TEB1-3;A8K9T2;Q8TEB1	.;.;.;.;DCA11_HUMAN	V	330;304;230;304	ENSP00000380142:A230V;ENSP00000380146:A304V	ENSP00000323680:A330V	A	+	2	0	DCAF11	23658842	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.609000	0.74173	2.837000	0.97791	0.655000	0.94253	GCC		0.547	DCAF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071907.4			10	18	0	0	0	1	0	10	18					T	24589002	C	T	24589002	3	4	435	1	0	0	0	0	1	0	0	0	4262	739	26	3	1027	3	DCAF11	14	24589002	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	28	24589002	82760538	6164	27089											
RNF31	55072	broad.mit.edu	37	chr14	24626800	24626800	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	actttcactgtacccagtgcCgccaccagttctgcagcggc	7	9	9	16	2	2	0	1	0	1	0	2	0	2	0	4	1	4	3	4	1	1	3			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:24626800C>T	ENST00000324103.6	+	16	3000	c.2680C>T	c.(2680-2682)Cgc>Tgc	p.R894C	RNF31_ENST00000559275.1_Missense_Mutation_p.R743C|RNF31_ENST00000382687.3_Missense_Mutation_p.R743C|RP11-468E2.4_ENST00000558468.1_Missense_Mutation_p.R369C|RNA5SP383_ENST00000362934.1_RNA	NM_017999.4	NP_060469.4	Q96EP0	RNF31_HUMAN	ring finger protein 31	894					CD40 signaling pathway (GO:0023035)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein linear polyubiquitination (GO:0097039)|protein polyubiquitination (GO:0000209)|T cell receptor signaling pathway (GO:0050852)	CD40 receptor complex (GO:0035631)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|LUBAC complex (GO:0071797)	ligase activity (GO:0016874)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|prostate(4)|skin(2)|soft_tissue(1)	39				GBM - Glioblastoma multiforme(265;0.00861)		TACCCAGTGCCGCCACCAGTT	0.587																																						ENST00000558468.1																			0											c.(1105-1107)Cgc>Tgc									103	111	109					14																	24626800		2068	4213	6281	SO:0001583	missense	0							g.chr14:24626800C>T	AK000973	CCDS41931.1	14q11.2	2012-09-20			ENSG00000092098	ENSG00000092098		"RING-type (C3HC4) zinc fingers"	16031	protein-coding gene	gene with protein product	"HOIL-1-interacting protein"	612487				10422847	Standard	NM_017999		Approved	ZIBRA, FLJ10111, FLJ23501, HOIP	uc001wmn.1	Q96EP0	OTTHUMG00000028798	ENST00000324103.6:c.2680C>T	14.37:g.24626800C>T	ENSP00000315112:p.Arg894Cys					RNF31_ENST00000324103.6_Missense_Mutation_p.R894C|RNF31_ENST00000559275.1_Missense_Mutation_p.R743C|RNF31_ENST00000382687.3_Missense_Mutation_p.R743C	p.R369C							8	1105	+								A0A962|Q86VI2|Q8TEI0|Q96GB4|Q96NF1|Q9H5F1|Q9NWD2	Missense_Mutation	SNP	ENST00000324103.6	37	c.1105C>T	CCDS41931.1	.	.	.	.	.	.	.	.	.	.	C	19.64	3.865660	0.71949	.	.	ENSG00000092098	ENST00000382682;ENST00000324103;ENST00000382687	T;T	0.78246	-1.16;-1.16	5.36	5.36	0.76844	Zinc finger, C6HC-type (1);Zinc finger, RING-type, conserved site (1);Zinc finger, RING-type (1);	0.000000	0.85682	D	0.000000	D	0.88183	0.6368	M	0.83774	2.66	0.58432	D	0.999999	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.996;0.949;0.996;0.998	D	0.89176	0.3540	10	0.87932	D	0	-21.7758	13.5398	0.61668	0.1564:0.8436:0.0:0.0	.	894;653;894;743	A0A962;B3KV71;Q96EP0;Q96EP0-3	.;.;RNF31_HUMAN;.	C	327;894;743	ENSP00000315112:R894C;ENSP00000372134:R743C	ENSP00000315112:R894C	R	+	1	0	RNF31	23696640	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.319000	0.43788	2.788000	0.95919	0.650000	0.86243	CGC		0.587	RNF31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071921.3	NM_017999		49	66	0	0	0	1	0	49	66					T	24626800	C	T	24626800	3	4	435	1	0	0	0	0	1	0	0	0	13487	652	23	2	2742	2	RNF31	14	24626800	Missense_Mutation	SNP	C	TCGA-XK-AAIW-01A-11D-A41K-08	37798	24626800	82722740	6165	27090											
IRF9	10379	broad.mit.edu	37	chr14	24633987	24633987	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tggagcccacgcagcgcctgCtgagccagcttgagaggggc	7	5	16	13	2	0	2	0	2	0	1	0	4	0	3	3	3	5	3	3	3	0	1			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:24633987C>T	ENST00000396864.3	+	7	1101	c.814C>T	c.(814-816)Ctg>Ttg	p.L272L	IRF9_ENST00000557894.1_Silent_p.L170L|RP11-468E2.4_ENST00000558468.1_3'UTR	NM_006084.4	NP_006075.3	Q00978	IRF9_HUMAN	interferon regulatory factor 9	272					cell surface receptor signaling pathway (GO:0007166